Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_Position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
RNF207	388591	genome.wustl.edu	37	chr1	6269994	6269994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcccaggacaggctggCagagaggaaagcgctgctgc	9	6	14	12	1	1	1	0	0	1	1	3	4	2	3	1	4	3	4	1	4	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:6269994C>T	ENST00000377939.4	+	8	891	c.764C>T	c.(763-765)gCa>gTa	p.A255V	RNF207_ENST00000377948.2_Missense_Mutation_p.A28V	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	255						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GACAGGCTGGCAGAGAGGAAA	0.662																																																	0													51	55	54					1																	6269994		2203	4300	6503	SO:0001583	missense	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.764C>T	1.37:g.6269994C>T	ENSP00000367173:p.Ala255Val		A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Missense_Mutation	SNP	NULL	p.A28V	ENST00000377939.4	37	c.83	CCDS59.2	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699532	0.48307	.	.	ENSG00000158286	ENST00000377948;ENST00000377939	T	0.18960	2.18	4.52	4.52	0.55395	.	0.536654	0.14131	U	0.339388	T	0.24122	0.0584	L	0.53249	1.67	0.41615	D	0.988935	B	0.24426	0.103	B	0.21360	0.034	T	0.05616	-1.0874	10	0.28530	T	0.3	-9.6805	17.2241	0.86964	0.0:1.0:0.0:0.0	.	255	Q6ZRF8	RN207_HUMAN	V	28;255	ENSP00000367173:A255V	ENSP00000367173:A255V	A	+	2	0	RNF207	6192581	0.981000	0.34729	0.580000	0.28601	0.280000	0.26924	2.550000	0.45811	2.233000	0.73108	0.650000	0.86243	GCA	RNF207	-	NULL	ENSG00000158286		0.662	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	-	0	44	0	C	NM_207396		6269994	1	tier1	-	no_errors	ENST00000377948	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.995	T	T	6269994	C	T	6269994	3	4	1	1	0	0	0	0	1	0	0	0	13519	710	25	3	790	3	RNF207	1	6269994	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		6269994	242980627	1	1											
ARID1A	8289	genome.wustl.edu	37	chr1	27057972	27057972	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacaggctcagtctccttaCcagcagcagcaacctcagca	11	6	7	17	0	3	0	2	0	1	0	4	0	3	0	4	1	6	5	4	1	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:27057972C>A	ENST00000324856.7	+	3	2051	c.1680C>A	c.(1678-1680)taC>taA	p.Y560*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y560*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y177*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	560					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Y560*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTCTCCTTACCAGCAGCAGC	0.637			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	ovary(1)											166	170	168					1																	27057972		2203	4300	6503	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1680C>A	1.37:g.27057972C>A	ENSP00000320485:p.Tyr560*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y560*	ENST00000324856.7	37	c.1680	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983189	0.93044	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	4.52	0.55395	.	0.362332	0.29995	N	0.010667	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3077	13.444	0.61129	0.2853:0.7147:0.0:0.0	.	.	.	.	X	560;560;177	.	ENSP00000320485:Y560X	Y	+	3	2	ARID1A	26930559	0.998000	0.40836	1.000000	0.80357	0.889000	0.51656	1.034000	0.30204	1.505000	0.48720	-0.182000	0.12963	TAC	ARID1A	-	NULL	ENSG00000117713		0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	77	0	C	NM_139135		27057972	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	20.75	42	11	SNP	1.000	A	A	27057972	C	A	27057972	4	1	1	1	0	0	0	0	0	1	0	0	913	518	18	3	1690	3	ARID1A	1	27057972	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	20787978	27057972	222192649	2	2											
C1orf94	84970	genome.wustl.edu	37	chr1	34643651	34643651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccctggacctccatggaGcagctctctgtccctgtggt	5	10	11	15	0	1	0	0	0	1	0	4	2	3	2	4	3	3	2	4	3	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:34643651G>T	ENST00000488417.1	+	1	381	c.261G>T	c.(259-261)gaG>gaT	p.E87D	C1orf94_ENST00000373374.3_Intron|AC115286.1_ENST00000408126.1_RNA	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	87										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCTCCATGGAGCAGCTCTCTG	0.547																																																	0													85	84	84					1																	34643651		692	1591	2283	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.261G>T	1.37:g.34643651G>T	ENSP00000435634:p.Glu87Asp		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.E87D	ENST00000488417.1	37	c.261	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149800	0.57151	.	.	ENSG00000142698	ENST00000488417	T	0.52295	0.67	5.74	0.819	0.18785	.	.	.	.	.	T	0.33147	0.0853	L	0.44542	1.39	0.24613	N	0.993715	B	0.13594	0.008	B	0.13407	0.009	T	0.20273	-1.0280	9	0.22109	T	0.4	-26.7958	4.4633	0.11676	0.2747:0.2327:0.4926:0.0	.	87	Q6P1W5	CA094_HUMAN	D	87	ENSP00000435634:E87D	ENSP00000435634:E87D	E	+	3	2	C1orf94	34416238	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	1.099000	0.31013	0.782000	0.33613	-0.136000	0.14681	GAG	C1orf94	-	NULL	ENSG00000142698		0.547	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2		0	42	0	G	NM_032884		34643651	1			no_errors	ENST00000488417	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.992	T	T	34643651	G	T	34643651	3	4	1	1	0	0	0	0	1	0	0	0	2078	962	34	3	263	3	C1orf94	1	34643651	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	7585679	34643651	214606970	3	3											
C1orf94	84970	genome.wustl.edu	37	chr1	34663145	34663145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagacattctgtgtgccGccgaggtcaagagcagcaag	11	7	12	11	2	3	2	2	0	1	2	3	3	3	2	2	1	3	2	2	1	2	1	rs202207825		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:34663145G>A	ENST00000488417.1	+	2	760	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	C1orf94_ENST00000373374.3_Missense_Mutation_p.A24T	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	214										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTGTGCCGCCGAGGTCAA	0.562																																																	0													81	72	75					1																	34663145		2203	4300	6503	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.640G>A	1.37:g.34663145G>A	ENSP00000435634:p.Ala214Thr		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.A214T	ENST00000488417.1	37	c.640	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	6.827	0.521702	0.13005	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.39406	1.08;1.08	4.98	3.11	0.35812	.	0.228743	0.30869	N	0.008713	T	0.27900	0.0687	L	0.31752	0.955	0.29099	N	0.881603	B	0.18013	0.025	B	0.15052	0.012	T	0.14671	-1.0464	10	0.38643	T	0.18	-11.7857	7.8188	0.29276	0.1947:0.0:0.8053:0.0	.	214	Q6P1W5	CA094_HUMAN	T	24;214	ENSP00000362472:A24T;ENSP00000435634:A214T	ENSP00000362472:A24T	A	+	1	0	C1orf94	34435732	0.788000	0.28762	0.675000	0.29917	0.025000	0.11179	1.389000	0.34453	0.508000	0.28173	-0.244000	0.11960	GCC	C1orf94	-	NULL	ENSG00000142698		0.562	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0	25	0	G	NM_032884		34663145	1	tier1	rs202207825	no_errors	ENST00000488417	ensembl	human	known	74_37	missense	55.00	9	11	SNP	0.713	A	A	34663145	G	A	34663145	3	1	1	1	0	0	0	0	1	0	0	0	2078	1087	38	1	646	1	C1orf94	1	34663145	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	19494	34663145	214587476	4	4											
SFPQ	6421	genome.wustl.edu	37	chr1	35657099	35657099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagttttctctccaggcCtcctcaagagagacaaattg	11	12	8	10	0	2	2	1	0	1	2	5	3	4	2	3	1	0	2	3	1	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:35657099C>T	ENST00000357214.5	-	2	958	c.860G>A	c.(859-861)aGg>aAg	p.R287K		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	287					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCTCCAGGCCTCCTCAAGAG	0.398			T	TFE3	papillary renal cell																																			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													75	76	76					1																	35657099		2203	4300	6503	SO:0001583	missense	0			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"RNA binding motif (RRM) containing"	10774	protein-coding gene	gene with protein product	"polypyrimidine tract binding protein associated", "protein phosphatase 1, regulatory subunit 140"	605199	"splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.860G>A	1.37:g.35657099C>T	ENSP00000349748:p.Arg287Lys		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.R287K	ENST00000357214.5	37	c.860	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481763	0.26598	.	.	ENSG00000116560	ENST00000357214	T	0.20738	2.05	5.26	4.35	0.52113	.	0.045912	0.85682	D	0.000000	T	0.12050	0.0293	N	0.16368	0.405	0.41648	D	0.989111	B	0.24963	0.115	B	0.15870	0.014	T	0.07908	-1.0748	10	0.10902	T	0.67	-16.868	14.0412	0.64676	0.0:0.927:0.0:0.073	.	287	P23246	SFPQ_HUMAN	K	287	ENSP00000349748:R287K	ENSP00000349748:R287K	R	-	2	0	SFPQ	35429686	0.991000	0.36638	0.998000	0.56505	0.998000	0.95712	2.701000	0.47094	1.201000	0.43203	0.563000	0.77884	AGG	SFPQ	-	NULL	ENSG00000116560		0.398	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	-	0	50	0	C	NM_005066		35657099	-1	tier1	-	no_errors	ENST00000357214	ensembl	human	known	74_37	missense	19.61	40	10	SNP	1.000	T	T	35657099	C	T	35657099	3	4	1	1	0	0	0	0	1	0	0	0	14205	681	24	3	1299	3	SFPQ	1	35657099	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	993954	35657099	213593522	5	5											
EIF2C4	192670	genome.wustl.edu	37	chr1	36291296	36291296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtacaccccagtgggcCgttcctttttctcacccccg	5	11	8	17	2	2	0	2	0	1	0	4	0	3	0	6	2	1	2	6	2	1	4	rs370159437		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:36291296C>T	ENST00000373210.3	+	5	750	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	169					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)	p.R169C(1)									CCCAGTGGGCCGTTCCTTTTT	0.493																																																	1	Substitution - Missense(1)	urinary_tract(1)						C	CYS/ARG	0,4406		0,0,2203	109	113	111		505	4.6	1	1		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	EIF2C4	NM_017629.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	169/862	36291296	1,13005	2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.505C>T	1.37:g.36291296C>T	ENSP00000362306:p.Arg169Cys		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R169C	ENST00000373210.3	37	c.505	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379038	0.82682	0.0	1.16E-4	ENSG00000134698	ENST00000373210	T	0.20069	2.1	5.53	4.62	0.57501	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.56426	0.1984	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69577	-0.5108	10	0.87932	D	0	-12.6709	14.271	0.66152	0.0:0.9285:0.0:0.0715	.	169	Q9HCK5	AGO4_HUMAN	C	169	ENSP00000362306:R169C	ENSP00000362306:R169C	R	+	1	0	EIF2C4	36063883	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.747000	0.85070	1.348000	0.45733	0.655000	0.94253	CGT	AGO4	-	pfam_DUF1785,superfamily_PAZ_dom	ENSG00000134698		0.493	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3	-	0	40	0	C	NM_017629		36291296	1	tier1	-	no_errors	ENST00000373210	ensembl	human	known	74_37	missense	27.87	43	17	SNP	1.000	T	T	36291296	C	T	36291296	3	4	1	1	0	0	0	0	1	0	0	0	5022	652	23	1	523	1	EIF2C4	1	36291296	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	634197	36291296	212959325	6	6											
RLF	6018	genome.wustl.edu	37	chr1	40697233	40697233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaaagaagaattgaccCttctttagatacttttttgg	12	15	7	7	0	1	4	0	1	1	3	1	4	1	4	1	1	2	1	1	1	5	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:40697233C>A	ENST00000372771.4	+	7	1019	c.992C>A	c.(991-993)cCt>cAt	p.P331H		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	331					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGAATTGACCCTTCTTTAGAT	0.363																																																	0													109	108	108					1																	40697233		2203	4300	6503	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.992C>A	1.37:g.40697233C>A	ENSP00000361857:p.Pro331His		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P331H	ENST00000372771.4	37	c.992	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502224	0.85176	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.41065	1.01	5.89	5.89	0.94794	.	0.267345	0.44483	D	0.000443	T	0.67050	0.2852	M	0.71581	2.175	0.43766	D	0.996289	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.831	T	0.67783	-0.5581	10	0.87932	D	0	-6.0911	20.2576	0.98430	0.0:1.0:0.0:0.0	.	24;331	F5H2M5;Q13129	.;RLF_HUMAN	H	331;24	ENSP00000361857:P331H	ENSP00000361857:P331H	P	+	2	0	RLF	40469820	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.618000	0.61211	2.783000	0.95769	0.655000	0.94253	CCT	RLF	-	NULL	ENSG00000117000		0.363	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1		0	54	0	C	NM_012421		40697233	1			no_errors	ENST00000372771	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	A	A	40697233	C	A	40697233	3	1	1	1	0	0	0	0	1	0	0	0	13434	681	24	3	1018	3	RLF	1	40697233	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4405937	40697233	208553388	7	7											
CCDC30	728621	genome.wustl.edu	37	chr1	43110423	43110423	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagtcttcgtctcacacAgcagattggcttcttagagc	11	12	8	10	1	3	2	1	0	3	2	5	2	3	2	0	1	2	2	0	1	3	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:43110423A>T	ENST00000340612.4	+	12	1835	c.1835A>T	c.(1834-1836)cAg>cTg	p.Q612L	CCDC30_ENST00000428554.2_Missense_Mutation_p.Q612L|CCDC30_ENST00000507855.1_Missense_Mutation_p.Q401L|CCDC30_ENST00000390640.4_Missense_Mutation_p.Q401L|CCDC30_ENST00000342022.4_Missense_Mutation_p.Q612L			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	612						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						CGTCTCACACAGCAGATTGGC	0.398																																																	0													130	115	120					1																	43110423		2203	4300	6503	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1835A>T	1.37:g.43110423A>T	ENSP00000340378:p.Gln612Leu		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.Q612L	ENST00000340612.4	37	c.1835	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	A	16.64	3.180363	0.57800	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.5	5.5	0.81552	.	0.744756	0.13210	N	0.405236	T	0.57504	0.2058	L	0.54323	1.7	0.30697	N	0.750707	D;D	0.67145	0.995;0.996	D;D	0.63877	0.919;0.918	T	0.59010	-0.7534	10	0.59425	D	0.04	.	12.2949	0.54840	1.0:0.0:0.0:0.0	.	612;401	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	L	612;401;612;612;401	ENSP00000397035:Q612L;ENSP00000426711:Q401L;ENSP00000340378:Q612L;ENSP00000339280:Q612L;ENSP00000375051:Q401L	ENSP00000340378:Q612L	Q	+	2	0	CCDC30	42883010	0.266000	0.24112	0.072000	0.20136	0.506000	0.33950	2.372000	0.44257	2.216000	0.71823	0.533000	0.62120	CAG	CCDC30	-	NULL	ENSG00000186409		0.398	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	-	0	67	0	A	NM_025030		43110423	1	tier1	-	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.819	T	T	43110423	A	T	43110423	3	4	1	1	0	0	0	0	1	0	0	0	2812	188	7	5	1881	5	CCDC30	1	43110423	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	2413190	43110423	206140198	8	8											
KDM4A	9682	genome.wustl.edu	37	chr1	44137514	44137514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaagaaaggaagcgccGctagaagtttcagtgagcgg	13	5	16	7	4	1	3	1	1	0	2	1	6	1	5	1	3	2	2	1	3	5	2	rs368052422		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:44137514G>A	ENST00000372396.3	+	11	1836	c.1702G>A	c.(1702-1704)Gct>Act	p.A568T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	568					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A568T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGGAAGCGCCGCTAGAAGTTT	0.612																																																	1	Substitution - Missense(1)	lung(1)											70	79	76					1																	44137514		2203	4300	6503	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1702G>A	1.37:g.44137514G>A	ENSP00000361473:p.Ala568Thr		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A568T	ENST00000372396.3	37	c.1702	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854711	0.17106	.	.	ENSG00000066135	ENST00000372396	T	0.49432	0.78	5.17	-2.95	0.05564	.	1.055890	0.07341	N	0.880754	T	0.19046	0.0457	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24835	-1.0149	10	0.10111	T	0.7	-0.2975	6.6872	0.23152	0.4572:0.2595:0.2832:0.0	.	568	O75164	KDM4A_HUMAN	T	568	ENSP00000361473:A568T	ENSP00000361473:A568T	A	+	1	0	KDM4A	43910101	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.166000	0.09954	-0.629000	0.05575	0.650000	0.86243	GCT	KDM4A	-	NULL	ENSG00000066135		0.612	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0	28	0	G	NM_014663		44137514	1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	26.92	18	7	SNP	0.000	A	A	44137514	G	A	44137514	3	1	1	1	0	0	0	0	1	0	0	0	8155	1087	38	1	1740	1	KDM4A	1	44137514	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1027091	44137514	205113107	9	9											
AGBL4	84871	genome.wustl.edu	37	chr1	49052820	49052820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctttcacagcgtcccGgttaaaggatgtgctggact	7	12	11	11	2	1	0	1	0	0	0	3	2	3	2	2	3	3	3	2	3	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:49052820G>A	ENST00000371839.1	-	11	1239	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	AGBL4_ENST00000334103.7_Missense_Mutation_p.R108W	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	375					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		ACAGCGTCCCGGTTAAAGGAT	0.522																																																	0													27	29	29					1																	49052820		1983	4137	6120	SO:0001583	missense	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.1123C>T	1.37:g.49052820G>A	ENSP00000360905:p.Arg375Trp		B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.R375W	ENST00000371839.1	37	c.1123	CCDS44137.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.78|19.78	3.890869|3.890869	0.72524|0.72524	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000432500|ENST00000371839;ENST00000411952;ENST00000334103	.|T;T	.|0.09255	.|3.0;3.0	5.9|5.9	2.93|2.93	0.34026|0.34026	.|Peptidase M14, carboxypeptidase A (1);	.|0.112845	.|0.64402	.|D	.|0.000008	T|T	0.32704|0.32704	0.0838|0.0838	M|M	0.77103|0.77103	2.36|2.36	0.40313|0.40313	D|D	0.978736|0.978736	.|D;D;D;D;D	.|0.89917	.|0.999;0.998;1.0;0.999;0.999	.|P;P;D;D;D	.|0.74348	.|0.88;0.9;0.983;0.957;0.957	T|T	0.09509|0.09509	-1.0671|-1.0671	5|9	.|.	.|.	.|.	-6.5959|-6.5959	15.3332|15.3332	0.74231|0.74231	0.0:0.0:0.4107:0.5893|0.0:0.0:0.4107:0.5893	.|.	.|190;387;108;220;375	.|A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.|.;.;.;.;CBPC6_HUMAN	L|W	103|375;369;108	.|ENSP00000360905:R375W;ENSP00000335516:R108W	.|.	P|R	-|-	2|1	0|2	AGBL4|AGBL4	48825407|48825407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.648000|3.648000	0.54410|0.54410	0.358000|0.358000	0.24211|0.24211	0.549000|0.549000	0.68633|0.68633	CCG|CGG	AGBL4	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000186094		0.522	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	-	0	35	0	G	NM_032785		49052820	-1	tier1	-	no_errors	ENST00000371839	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	A	A	49052820	G	A	49052820	3	1	1	1	0	0	0	0	1	0	0	0	377	1115	39	1	404	1	AGBL4	1	49052820	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4915306	49052820	200197801	10	10											
OSBPL9	114883	genome.wustl.edu	37	chr1	52211208	52211208	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaaattctctttctctagGgtttggattcaggatttgtt	7	19	9	6	0	3	0	1	0	2	0	5	2	3	2	0	3	1	3	0	3	2	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:52211208G>T	ENST00000428468.1	+	5	321	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	OSBPL9_ENST00000531828.1_5'UTR|OSBPL9_ENST00000462759.1_5'UTR|OSBPL9_ENST00000435686.2_5'UTR|OSBPL9_ENST00000371710.3_Splice_Site_p.G125C|OSBPL9_ENST00000530544.1_Splice_Site_p.G39C|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000337809.4_Splice_Site_p.G125C|OSBPL9_ENST00000371714.1_Splice_Site_p.G107C|OSBPL9_ENST00000361556.5_Splice_Site_p.G10C|OSBPL9_ENST00000453295.1_Splice_Site_p.G90C|OSBPL9_ENST00000486942.1_Intron|OSBPL9_ENST00000447887.1_Splice_Site_p.G130C			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	107					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CTTTCTCTAGGGTTTGGATTC	0.318																																																	0													107	104	105					1																	52211208		2201	4299	6500	SO:0001630	splice_region_variant	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.319-1G>T	1.37:g.52211208G>T			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G125C	ENST00000428468.1	37	c.373	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909651	0.52439	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000361556	T;T;T;T;T	0.15139	2.46;2.68;2.68;2.48;2.45	4.89	3.97	0.46021	.	0.106978	0.64402	D	0.000004	T	0.32912	0.0845	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.996;0.996;0.983	D;D;P;P;P	0.91635	0.998;0.999;0.838;0.77;0.711	T	0.04128	-1.0975	10	0.56958	D	0.05	.	13.5398	0.61668	0.0:0.0:0.8426:0.1574	.	90;10;136;107;125	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	C	107;125;125;130;107;90;39;10	ENSP00000360779:G107C;ENSP00000360775:G125C;ENSP00000337265:G125C;ENSP00000412733:G130C;ENSP00000407168:G107C	ENSP00000337265:G125C	G	+	1	0	OSBPL9	51983796	1.000000	0.71417	1.000000	0.80357	0.432000	0.31715	7.983000	0.88140	1.271000	0.44313	-0.188000	0.12872	GGT	OSBPL9	-	NULL	ENSG00000117859		0.318	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	-	0	76	0	G		Missense_Mutation	52211208	1	tier1	-	no_errors	ENST00000371710	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T	T	52211208	G	T	52211208	5	4	1	1	0	0	0	0	0	0	1	0	11323	1246	43	3	441	3	OSBPL9	1	52211208	Splice_Site	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3158388	52211208	197039413	11	11											
HOOK1	51361	genome.wustl.edu	37	chr1	60328544	60328544	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaggttccaagtctgaaggcGaaagtgtaagtaacttagaa	16	9	11	5	1	1	2	0	1	1	1	2	3	2	2	1	2	1	3	1	2	8	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:60328544G>C	ENST00000371208.3	+	16	1878	c.1621G>C	c.(1621-1623)Gaa>Caa	p.E541Q	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E499Q	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	541	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GTCTGAAGGCGAAAGTGTAAG	0.368																																																	0													79	83	82					1																	60328544		2203	4300	6503	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1621G>C	1.37:g.60328544G>C	ENSP00000360252:p.Glu541Gln		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin	p.E541Q	ENST00000371208.3	37	c.1621	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529663	0.64860	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.33438	1.8;1.41	5.64	5.64	0.86602	.	0.060019	0.64402	D	0.000005	T	0.27027	0.0662	L	0.28274	0.84	0.44643	D	0.997626	D	0.54397	0.966	B	0.43575	0.424	T	0.01397	-1.1365	10	0.21540	T	0.41	.	20.0534	0.97636	0.0:0.0:1.0:0.0	.	541	Q9UJC3	HOOK1_HUMAN	Q	541;499	ENSP00000360252:E541Q;ENSP00000378928:E499Q	ENSP00000360252:E541Q	E	+	1	0	HOOK1	60101132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.564000	0.90726	2.807000	0.96579	0.650000	0.86243	GAA	HOOK1	-	pfam_Hook-related_fam	ENSG00000134709		0.368	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1		0	37	0	G	NM_015888		60328544	1			no_errors	ENST00000371208	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	C	C	60328544	G	C	60328544	3	2	1	1	0	0	0	0	1	0	0	0	7309	1059	37	5	1683	5	HOOK1	1	60328544	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	8117336	60328544	188922077	12	12											
KANK4	163782	genome.wustl.edu	37	chr1	62703983	62703983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgccctgctccgcgtggGctctcagaagcccagcaatt	7	8	10	16	2	1	1	1	0	1	1	3	1	2	1	4	1	4	3	4	1	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:62703983G>T	ENST00000371153.4	-	10	3332	c.2954C>A	c.(2953-2955)gCc>gAc	p.A985D	KANK4_ENST00000371150.1_Missense_Mutation_p.A341D|KANK4_ENST00000354381.3_Missense_Mutation_p.A357D|KANK4_ENST00000317477.4_Missense_Mutation_p.A123D	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	985						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCCGCGTGGGCTCTCAGAAG	0.562																																																	0													41	44	43					1																	62703983		2203	4300	6503	SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2954C>A	1.37:g.62703983G>T	ENSP00000360195:p.Ala985Asp		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A985D	ENST00000371153.4	37	c.2954	CCDS620.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934681	0.92458	.	.	ENSG00000132854	ENST00000371153;ENST00000317477;ENST00000354381;ENST00000371150	T;T;T;T	0.50813	0.73;1.44;0.73;0.73	5.15	5.15	0.70609	Ankyrin repeat-containing domain (2);	0.000000	0.39210	N	0.001429	T	0.69142	0.3078	M	0.74546	2.27	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.71656	0.974;0.937	T	0.71076	-0.4697	10	0.56958	D	0.05	-21.1658	18.435	0.90642	0.0:0.0:1.0:0.0	.	357;985	Q5T7N3-2;Q5T7N3	.;KANK4_HUMAN	D	985;123;357;341	ENSP00000360195:A985D;ENSP00000321161:A123D;ENSP00000346352:A357D;ENSP00000360192:A341D	ENSP00000321161:A123D	A	-	2	0	KANK4	62476571	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.861000	0.87004	2.687000	0.91594	0.455000	0.32223	GCC	KANK4	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000132854		0.562	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	-	0	34	0	G	NM_181712		62703983	-1	tier1	-	no_errors	ENST00000371153	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	62703983	G	T	62703983	3	4	1	1	0	0	0	0	1	0	0	0	8006	1203	42	3	37	3	KANK4	1	62703983	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2375439	62703983	186546638	13	13											
DEPDC1	55635	genome.wustl.edu	37	chr1	68943645	68943645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaatagtccatctccaGgattttcaatctgtagtgat	12	13	8	8	0	3	1	1	1	2	0	5	3	4	2	2	1	1	2	2	1	4	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:68943645G>T	ENST00000456315.2	-	11	2237	c.2123C>A	c.(2122-2124)cCt>cAt	p.P708H	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.P424H	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	708					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TCCATCTCCAGGATTTTCAAT	0.358																																																	0													102	107	105					1																	68943645		2203	4298	6501	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.2123C>A	1.37:g.68943645G>T	ENSP00000412292:p.Pro708His		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.P708H	ENST00000456315.2	37	c.2123	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681914	0.29872	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.92858	-3.12;-3.12	5.7	4.77	0.60923	.	.	.	.	.	T	0.78000	0.4215	L	0.34521	1.04	0.20563	N	0.99989	B;B	0.12630	0.006;0.003	B;B	0.18263	0.021;0.004	T	0.69499	-0.5129	9	0.42905	T	0.14	-0.5592	7.8184	0.29274	0.0754:0.0:0.6262:0.2984	.	708;424	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	H	708;424	ENSP00000412292:P708H;ENSP00000360005:P424H	ENSP00000360005:P424H	P	-	2	0	DEPDC1	68716233	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	2.852000	0.48310	1.349000	0.45751	0.650000	0.86243	CCT	DEPDC1	-	NULL	ENSG00000024526		0.358	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2		0	50	0	G	NM_017779		68943645	-1			no_errors	ENST00000456315	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.590	T	T	68943645	G	T	68943645	3	4	1	1	0	0	0	0	1	0	0	0	4453	1000	35	3	320	3	DEPDC1	1	68943645	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	6239662	68943645	180306976	14	14											
FUBP1	8880	genome.wustl.edu	37	chr1	78429758	78429760	+	In_Frame_Del	DEL	GAA	GAA	-																															ctatcaaacctgaacacttcGaagaaggtctgtaataattt																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:78429758_78429760delGAA	ENST00000370768.2	-	12	1109_1111	c.1028_1030delTTC	c.(1027-1032)cttcga>cga	p.L343del	FUBP1_ENST00000436586.2_In_Frame_Del_p.L364del|FUBP1_ENST00000370767.1_In_Frame_Del_p.L343del	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	343					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGAACACTTCGAAGAAGGTCTGT	0.36			"F, N"		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0																																										SO:0001651	inframe_deletion	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1028_1030delTTC	1.37:g.78429761_78429763delGAA	ENSP00000359804:p.Leu343del		Q12828	In_Frame_Del	DEL	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.L364in_frame_del	ENST00000370768.2	37	c.1093_1091	CCDS683.1	1																																																																																			FUBP1	-	smart_KH_dom	ENSG00000162613		0.36	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3		0	24	0	GAA	NM_003902		78429760	-1	tier1		no_errors	ENST00000436586	ensembl	human	known	74_37	in_frame_del	31.58	13	6	DEL	1.000:0.996:1.000	-	-	78429760	GAA	-	78429758	7	5	1	1	0	1	0	1	0	0	0	0	6116	1066	37	0	940	0	FUBP1	1	78429758	In_Frame_Del	DEL	GAA	TCGA-2H-A9GF-01A-11D-A37C-09	9486113	78429758	170820863	15	15											
LPHN2	23266	genome.wustl.edu	37	chr1	82456740	82456740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagcaggggcaatagtGatggttatataatccccatt	13	11	10	7	0	1	2	1	1	0	1	2	2	2	2	2	3	1	3	2	3	5	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:82456740G>T	ENST00000370728.1	+	25	4936	c.4291G>T	c.(4291-4293)Gat>Tat	p.D1431Y	LPHN2_ENST00000359929.3_Missense_Mutation_p.D1375Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Missense_Mutation_p.D1375Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.D1433Y|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370725.1_Missense_Mutation_p.D1446Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.D1403Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.D1388Y|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000394879.1_Missense_Mutation_p.D1433Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.D1446Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.D1356Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.D1388Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.D1403Y			O95490	LPHN2_HUMAN	latrophilin 2	1431					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gggcaatagtgatggttatat	0.423																																																	0													33	34	34					1																	82456740		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4291G>T	1.37:g.82456740G>T	ENSP00000359763:p.Asp1431Tyr		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.D1446Y	ENST00000370728.1	37	c.4336		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.178487|3.178487	0.57692|0.57692	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.	0.75367|.	-0.85;-0.89;-0.93;-0.87;-0.81;-0.76;-0.87;-0.87;-0.81;-0.76;-0.87;-0.93|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.66858|.	0.2832|.	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.996;0.997|.	D;D|.	0.68621|.	0.959;0.954|.	T|.	0.62737|.	-0.6791|.	10|.	0.87932|.	D|.	0|.	.|.	19.7629|19.7629	0.96329|0.96329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1375;355|.	O95490-2;B3KVU1|.	.;.|.	Y|L	1356;1431;1388;1403;1446;1433;1375;1375;1446;1433;1403;1388|442	ENSP00000359756:D1356Y;ENSP00000359763:D1431Y;ENSP00000359765:D1388Y;ENSP00000359762:D1403Y;ENSP00000359760:D1446Y;ENSP00000359758:D1433Y;ENSP00000353006:D1375Y;ENSP00000322270:D1375Y;ENSP00000359752:D1446Y;ENSP00000378344:D1433Y;ENSP00000271029:D1403Y;ENSP00000337306:D1388Y|.	ENSP00000271029:D1403Y|.	D|X	+|+	1|2	0|2	LPHN2|LPHN2	82229328|82229328	1.000000|1.000000	0.71417|0.71417	0.845000|0.845000	0.33349|0.33349	0.937000|0.937000	0.57800|0.57800	9.230000|9.230000	0.95299|0.95299	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	GAT|TGA	LPHN2	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000117114		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	30	0	G	NM_012302		82456740	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	62.16	14	23	SNP	1.000	T	T	82456740	G	T	82456740	3	4	1	1	0	0	0	0	1	0	0	0	8951	1290	45	3	4197	3	LPHN2	1	82456740	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4026982	82456740	166793881	16	16											
HFM1	164045	genome.wustl.edu	37	chr1	91781372	91781372	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagaaatttcacacttacGtaatcttgtgcagataaact	15	13	5	8	1	3	2	2	0	1	2	3	2	3	2	0	0	3	2	0	0	5	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:91781372G>A	ENST00000370425.3	-	28	3238	c.3140C>T	c.(3139-3141)aCg>aTg	p.T1047M	HFM1_ENST00000294696.5_Splice_Site_p.T279M|HFM1_ENST00000370424.3_Splice_Site_p.T726M|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1047	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.T1047M(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCACACTTACGTAATCTTGTG	0.313																																																	1	Substitution - Missense(1)	large_intestine(1)											66	64	64					1																	91781372		2201	4299	6500	SO:0001630	splice_region_variant	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3140+1C>T	1.37:g.91781372G>A			B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1047M	ENST00000370425.3	37	c.3140	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.133|5.133	0.210150|0.210150	0.09757|0.09757	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000430465|ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	.|T;T;T	.|0.62232	.|0.04;0.04;0.04	5.25|5.25	4.12|4.12	0.48240|0.48240	.|Sec63 domain (2);	.|0.765588	.|0.12875	.|N	.|0.431977	T|T	0.11281|0.11281	0.0275|0.0275	N|N	0.00855|0.00855	-1.145|-1.145	0.25714|0.25714	N|N	0.985443|0.985443	.|B;B;B	.|0.14012	.|0.009;0.0;0.005	.|B;B;B	.|0.09377	.|0.001;0.002;0.004	T|T	0.31971|0.31971	-0.9924|-0.9924	5|9	.|.	.|.	.|.	.|.	11.1879|11.1879	0.48669|0.48669	0.9269:0.0:0.0731:0.0|0.9269:0.0:0.0731:0.0	.|.	.|726;258;1047	.|A6NGI5;B1B0B5;A2PYH4	.|.;.;HFM1_HUMAN	W|M	259|1047;279;726;731	.|ENSP00000359454:T1047M;ENSP00000294696:T279M;ENSP00000359453:T726M	.|.	R|T	-|-	1|2	2|0	HFM1|HFM1	91553960|91553960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.100000|0.100000	0.18952|0.18952	3.507000|3.507000	0.53371|0.53371	0.832000|0.832000	0.34804|0.34804	-0.606000|-0.606000	0.04082|0.04082	CGG|ACG	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000162669		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0	41	0	G	NM_001017975	Missense_Mutation	91781372	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	A	A	91781372	G	A	91781372	5	1	1	1	0	0	0	0	0	0	1	0	7110	1159	40	1	1215	1	HFM1	1	91781372	Splice_Site	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	9324632	91781372	157469249	17	17											
GPR88	54112	genome.wustl.edu	37	chr1	101004651	101004651	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattcgggcctggccatCgggggcacgctggccaacgg	5	7	16	13	4	0	0	0	0	0	0	2	0	0	0	3	6	1	3	3	6	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:101004651C>A	ENST00000315033.4	+	2	568	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	43					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GCCTGGCCATCGGGGGCACGC	0.667																																																	0													41	35	37					1																	101004651		2201	4300	6501	SO:0001819	synonymous_variant	0			AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"GPCR / Class A : Orphans"	4539	protein-coding gene	gene with protein product		607468	"G-protein coupled receptor 88", "G protein coupled receptor 88"				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.129C>A	1.37:g.101004651C>A			Q29S24|Q6VN48	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I43	ENST00000315033.4	37	c.129	CCDS772.1	1																																																																																			GPR88	-	prints_GPCR_Rhodpsn	ENSG00000181656		0.667	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR88	HGNC	protein_coding	OTTHUMT00000030212.1	-	0	32	0	C	NM_022049		101004651	1	tier1	-	no_errors	ENST00000315033	ensembl	human	known	74_37	silent	16.67	25	5	SNP	1.000	A	A	101004651	C	A	101004651	2	1	1	1	0	0	0	0	0	0	0	1	6743	874	31	2		2	GPR88	1	101004651	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	9223279	101004651	148245970	18	18											
FMO5	2330	genome.wustl.edu	37	chr1	146672739	146672739	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcatggtcacttacctttaAatacctgagtggcccagcgt	9	12	9	11	1	1	1	1	1	0	0	1	1	1	1	3	2	4	1	3	2	4	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:146672739A>G	ENST00000254090.4	-	7	1566	c.1178T>C	c.(1177-1179)tTt>tCt	p.F393S	FMO5_ENST00000441068.2_Missense_Mutation_p.F393S|FMO5_ENST00000369272.3_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	393						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					CTTACCTTTAAATACCTGAGT	0.413																																																	0													72	69	70					1																	146672739		2203	4300	6503	SO:0001583	missense	0			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1178T>C	1.37:g.146672739A>G	ENSP00000254090:p.Phe393Ser		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.F393S	ENST00000254090.4	37	c.1178	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	21.6	4.180443	0.78677	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.56444	0.46;0.46	6.08	4.94	0.65067	.	0.104155	0.64402	D	0.000002	T	0.72708	0.3494	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.989	T	0.80139	-0.1507	10	0.72032	D	0.01	-7.2333	10.9198	0.47158	0.8594:0.0:0.0:0.1406	.	393;393	P49326;C9JJD1	FMO5_HUMAN;.	S	393	ENSP00000416011:F393S;ENSP00000254090:F393S	ENSP00000254090:F393S	F	-	2	0	FMO5	145139363	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.320000	0.96346	1.095000	0.41419	0.482000	0.46254	TTT	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000131781		0.413	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2		0	42	0	A	NM_001461		146672739	-1			no_errors	ENST00000254090	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	G	G	146672739	A	G	146672739	3	3	1	1	0	0	0	0	1	0	0	0	5980	14	1	4	578	4	FMO5	1	146672739	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	45668088	146672739	102577882	19	19											
RPRD2	23248	genome.wustl.edu	37	chr1	150429812	150429812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaatttaaagaagaagttgGatcaattgaagtcaaccctt	17	11	7	6	0	2	3	2	1	0	2	2	4	2	4	1	1	1	1	1	1	8	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:150429812G>T	ENST00000369068.4	+	8	923	c.919G>T	c.(919-921)Gat>Tat	p.D307Y	RPRD2_ENST00000539519.1_Missense_Mutation_p.D281Y|RPRD2_ENST00000401000.4_Missense_Mutation_p.D281Y|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	307						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.D307H(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAAGAAGTTGGATCAATTGAA	0.423																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											101	97	98					1																	150429812		1872	4110	5982	SO:0001583	missense	0			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.919G>T	1.37:g.150429812G>T	ENSP00000358064:p.Asp307Tyr		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom	p.D307Y	ENST00000369068.4	37	c.919	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501985	0.85176	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.54675	0.6;0.56;0.6	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68054	0.2959	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.69702	-0.5074	10	0.87932	D	0	-11.906	19.241	0.93883	0.0:0.0:1.0:0.0	.	281;307;281	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	Y	281;281;307	ENSP00000383785:D281Y;ENSP00000445482:D281Y;ENSP00000358064:D307Y	ENSP00000358064:D307Y	D	+	1	0	RPRD2	148696436	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.992000	0.93519	2.841000	0.97950	0.637000	0.83480	GAT	RPRD2	-	NULL	ENSG00000163125		0.423	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1		0	28	0	G	NM_015203		150429812	1			no_errors	ENST00000369068	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	150429812	G	T	150429812	3	4	1	1	0	0	0	0	1	0	0	0	13662	1174	41	3	949	3	RPRD2	1	150429812	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3757073	150429812	98820809	20	20											
TCHH	7062	genome.wustl.edu	37	chr1	152084220	152084220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcgcctctcctcctcctcGagcttcagccaacgttcgcg	4	10	8	19	6	2	0	1	0	1	0	8	1	4	0	5	0	3	2	5	0	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:152084220G>A	ENST00000368804.1	-	2	1472	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	491	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L491L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCTCGAGCTTCAGCC	0.672																																																	1	Substitution - coding silent(1)	lung(1)											63	70	68					1																	152084220		2105	4220	6325	SO:0001819	synonymous_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1473C>T	1.37:g.152084220G>A			Q5VUI3	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.L491	ENST00000368804.1	37	c.1473	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.672	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	158	0	G	NM_007113		152084220	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	silent	19.67	147	36	SNP	0.000	A	A	152084220	G	A	152084220	2	1	1	1	0	0	0	0	0	0	0	1	15747	1045	37	1		1	TCHH	1	152084220	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1654408	152084220	97166401	21	21											
SEMA4A	64218	genome.wustl.edu	37	chr1	156130754	156130754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtctacttcttcttcgaGgagacagccagcgagtttga	8	12	11	10	3	3	2	0	1	3	1	5	5	3	2	1	1	3	1	1	1	1	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:156130754G>T	ENST00000368285.3	+	8	1011	c.744G>T	c.(742-744)gaG>gaT	p.E248D	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E116D|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E116D|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E248D|SEMA4A_ENST00000368282.1_Missense_Mutation_p.E248D	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	248	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTTCTTCGAGGAGACAGCCA	0.637																																																	0													112	121	118					1																	156130754		2203	4300	6503	SO:0001583	missense	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.744G>T	1.37:g.156130754G>T	ENSP00000357268:p.Glu248Asp		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.E248D	ENST00000368285.3	37	c.744	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036069	0.54896	.	.	ENSG00000196189	ENST00000435124;ENST00000414683;ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000438830;ENST00000368282	T;T;T;T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81;2.81;2.81;2.81	5.65	4.74	0.60224	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.856952	0.10392	N	0.680243	T	0.03827	0.0108	L	0.38838	1.175	0.35066	D	0.762032	B;B	0.16166	0.016;0.009	B;B	0.18263	0.021;0.021	T	0.22277	-1.0221	10	0.36615	T	0.2	.	8.9756	0.35932	0.0791:0.1487:0.7722:0.0	.	116;248	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	D	248;149;248;248;116;210;210;116;215;248	ENSP00000401391:E248D;ENSP00000399230:E149D;ENSP00000347117:E248D;ENSP00000357268:E248D;ENSP00000357267:E116D;ENSP00000357269:E116D;ENSP00000392865:E215D;ENSP00000357265:E248D	ENSP00000347117:E248D	E	+	3	2	SEMA4A	154397378	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.718000	0.38001	1.392000	0.46585	0.455000	0.32223	GAG	SEMA4A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196189		0.637	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	-	0	34	0	G	NM_022367		156130754	1	tier1	-	no_errors	ENST00000355014	ensembl	human	known	74_37	missense	23.21	43	13	SNP	1.000	T	T	156130754	G	T	156130754	3	4	1	1	0	0	0	0	1	0	0	0	14076	991	35	3	770	3	SEMA4A	1	156130754	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4046534	156130754	93119867	22	22											
CD1E	913	genome.wustl.edu	37	chr1	158324252	158324252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctcctttgccaaccaCagctgggcacacagtgaggg	9	8	10	14	0	0	1	0	1	0	0	2	1	2	1	4	2	3	2	4	2	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:158324252C>G	ENST00000368167.3	+	2	383	c.144C>G	c.(142-144)caC>caG	p.H48Q	CD1E_ENST00000368160.3_Missense_Mutation_p.H48Q|CD1E_ENST00000368156.1_Missense_Mutation_p.H48Q|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.H48Q|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.H48Q|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.H48Q|CD1E_ENST00000434258.1_Missense_Mutation_p.H46Q|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.H48Q	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	48					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTGCCAACCACAGCTGGGCAC	0.582																																																	0													92	96	94					1																	158324252		2183	4297	6480	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.144C>G	1.37:g.158324252C>G	ENSP00000357149:p.His48Gln		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.H48Q	ENST00000368167.3	37	c.144	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224031	0.22457	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.06528	3.29;3.29;3.47;3.29;3.29;3.29;3.67;3.64	3.62	1.68	0.24146	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.861189	0.09688	N	0.768830	T	0.01092	0.0036	L	0.27053	0.805	0.58432	D	0.999999	B;B;P;B;B;B;B;B	0.37955	0.006;0.244;0.612;0.018;0.006;0.297;0.1;0.049	B;B;B;B;B;B;B;B	0.30716	0.004;0.056;0.119;0.01;0.004;0.05;0.033;0.032	T	0.52873	-0.8517	10	0.10902	T	0.67	-3.2355	4.6416	0.12552	0.213:0.6706:0.0:0.1164	.	46;48;48;48;48;48;48;48	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	Q	46;48;48;48;48;48;48;48	ENSP00000401957:H46Q;ENSP00000357149:H48Q;ENSP00000357147:H48Q;ENSP00000357145:H48Q;ENSP00000357142:H48Q;ENSP00000357143:H48Q;ENSP00000357138:H48Q;ENSP00000357137:H48Q	ENSP00000357137:H48Q	H	+	3	2	CD1E	156590876	0.079000	0.21365	0.953000	0.39169	0.946000	0.59487	0.031000	0.13710	0.485000	0.27652	0.563000	0.77884	CAC	CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.582	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	29	0	C	NM_030893		158324252	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.966	G	G	158324252	C	G	158324252	3	3	1	1	0	0	0	0	1	0	0	0	2985	477	17	5	150	5	CD1E	1	158324252	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	2193498	158324252	90926369	23	23											
CADM3	57863	genome.wustl.edu	37	chr1	159162426	159162426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacgagctcagcatcagCatcagcaatgtggccctggc	9	6	10	16	1	3	0	3	0	0	0	3	1	3	0	3	2	4	4	3	2	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:159162426C>T	ENST00000368125.4	+	3	445	c.288C>T	c.(286-288)agC>agT	p.S96S	CADM3_ENST00000368124.4_Silent_p.S130S	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	96	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCAGCATCAGCATCAGCAATG	0.527																																																	0													165	132	143					1																	159162426		2203	4300	6503	SO:0001819	synonymous_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.288C>T	1.37:g.159162426C>T			Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.S130	ENST00000368125.4	37	c.390	CCDS44251.1	1																																																																																			CADM3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000162706		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	-	0	39	0	C	NM_021189		159162426	1	tier1	-	no_errors	ENST00000368124	ensembl	human	known	74_37	silent	42.22	26	19	SNP	1.000	T	T	159162426	C	T	159162426	2	4	1	1	0	0	0	0	0	0	0	1	2575	709	25	3		3	CADM3	1	159162426	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	838174	159162426	90088195	24	24											
METTL13	51603	genome.wustl.edu	37	chr1	171753185	171753185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgtcctgcaggtgggCggtcgctatctctgcatctc	3	11	14	13	3	2	0	0	0	2	0	6	0	3	0	2	4	2	3	2	4	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:171753185C>T	ENST00000361735.3	+	2	725	c.459C>T	c.(457-459)ggC>ggT	p.G153G	METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Silent_p.G67G|METTL13_ENST00000458517.1_Silent_p.G152G	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	153							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGCAGGTGGGCGGTCGCTATC	0.597																																																	0													99	81	87					1																	171753185		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.459C>T	1.37:g.171753185C>T			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.G153	ENST00000361735.3	37	c.459	CCDS1299.1	1																																																																																			METTL13	-	pfam_Methyltransf_11	ENSG00000010165		0.597	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0	57	0	C	NM_014955		171753185	1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	T	T	171753185	C	T	171753185	2	4	1	1	0	0	0	0	0	0	0	1	9535	755	27	1		1	METTL13	1	171753185	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	12590759	171753185	77497436	25	25											
RC3H1	149041	genome.wustl.edu	37	chr1	173933253	173933253	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcattggaggcagatcTgctggcccccttggaggtat	8	9	14	10	0	1	1	0	0	1	1	1	3	1	3	2	6	1	4	2	6	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:173933253T>A	ENST00000367696.2	-	11	2040	c.1689A>T	c.(1687-1689)gcA>gcT	p.A563A	RC3H1_ENST00000258349.4_Silent_p.A563A|RC3H1_ENST00000367694.2_Silent_p.A563A			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	563	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAGGCAGATCTGCTGGCCCCC	0.438																																																	0													117	114	115					1																	173933253		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1689A>T	1.37:g.173933253T>A			B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.A563	ENST00000367696.2	37	c.1689	CCDS30940.1	1																																																																																			RC3H1	-	NULL	ENSG00000135870		0.438	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2	-	0	93	0	T	NM_172071		173933253	-1	tier1	-	no_errors	ENST00000258349	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	A	A	173933253	T	A	173933253	2	1	1	1	0	0	0	0	0	0	0	1	13211	1567	55	5		5	RC3H1	1	173933253	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	2180068	173933253	75317368	26	26											
TNR	7143	genome.wustl.edu	37	chr1	175375752	175375752	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttctgtggtgacctcCagctgacactctgaaggctt	7	12	9	13	0	2	3	0	3	2	0	3	3	3	3	3	2	1	2	3	2	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:175375752C>A	ENST00000367674.2	-	3	807	c.99G>T	c.(97-99)ctG>ctT	p.L33L	TNR_ENST00000263525.2_Silent_p.L33L			Q92752	TENR_HUMAN	tenascin R	33					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGTGACCTCCAGCTGACACT	0.537																																																	0													208	181	190					1																	175375752		2203	4300	6503	SO:0001819	synonymous_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.99G>T	1.37:g.175375752C>A			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.L33	ENST00000367674.2	37	c.99	CCDS1318.1	1																																																																																			TNR	-	NULL	ENSG00000116147		0.537	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	69	0	C	NM_003285		175375752	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	24.44	34	11	SNP	1.000	A	A	175375752	C	A	175375752	2	1	1	1	0	0	0	0	0	0	0	1	16385	581	21	3		3	TNR	1	175375752	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1442499	175375752	73874869	27	27											
RALGPS2	55103	genome.wustl.edu	37	chr1	178855160	178855160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcaacgtttccaaatgcagGaccaagacatctgttagatg	13	10	9	9	1	1	2	0	0	1	2	2	3	2	3	2	1	3	4	2	1	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:178855160G>A	ENST00000367635.3	+	13	1435	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	RALGPS2_ENST00000367634.2_Missense_Mutation_p.G366E|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	366					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCAAATGCAGGACCAAGACAT	0.378																																																	0													81	83	82					1																	178855160		2203	4300	6503	SO:0001583	missense	0			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"Pleckstrin homology (PH) domain containing"	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1097G>A	1.37:g.178855160G>A	ENSP00000356607:p.Gly366Glu		B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.G366E	ENST00000367635.3	37	c.1097	CCDS1325.1	1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216686	0.58452	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.48836	0.8;0.8;0.8	5.55	5.55	0.83447	.	0.180517	0.47852	D	0.000214	T	0.44350	0.1289	L	0.56769	1.78	0.80722	D	1	P;P	0.39376	0.67;0.67	B;B	0.33521	0.165;0.13	T	0.36480	-0.9746	10	0.19590	T	0.45	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	366;366	B7Z7B1;Q86X27	.;RGPS2_HUMAN	E	366;366;331;15	ENSP00000356607:G366E;ENSP00000356606:G366E;ENSP00000313613:G331E	ENSP00000313613:G331E	G	+	2	0	RALGPS2	177121783	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	9.255000	0.95524	2.623000	0.88846	0.655000	0.94253	GGA	RALGPS2	-	NULL	ENSG00000116191		0.378	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS2	HGNC	protein_coding	OTTHUMT00000084926.2	-	0	43	0	G	NM_152663		178855160	1	tier1	-	no_errors	ENST00000367635	ensembl	human	known	74_37	missense	24.00	38	12	SNP	1.000	A	A	178855160	G	A	178855160	3	1	1	1	0	0	0	0	1	0	0	0	13063	1174	41	3	1143	3	RALGPS2	1	178855160	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3479408	178855160	70395461	28	28											
TPR	7175	genome.wustl.edu	37	chr1	186331970	186331972	+	Splice_Site	DEL	TCT	TCT	-																															cacaattttactaacttaccTcttcttttttattttcaaga																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:186331970_186331972delTCT	ENST00000367478.4	-	6	989_991	c.693_695delAGA	c.(691-696)gaagag>gag	p.231_232EE>E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	231					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTAACTTACCTCTTCTTTTTTAT	0.296			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0																																										SO:0001630	splice_region_variant	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.696+1AGA>-	1.37:g.186331973_186331975delTCT			Q15655|Q5SWY0|Q99968	In_Frame_Del	DEL	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E232in_frame_del	ENST00000367478.4	37	c.695_693	CCDS41446.1	1																																																																																			TPR	-	NULL	ENSG00000047410		0.296	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2		0	34	0	TCT	NM_003292	In_Frame_Del	186331972	-1	tier1		no_errors	ENST00000367478	ensembl	human	known	74_37	in_frame_del	20.69	23	6	DEL	1.000:1.000:0.914	-	-	186331972	TCT	-	186331970	8	5	1	1	0	1	0	1	0	0	1	0	16464	1565	54	0	6580	0	TPR	1	186331970	Splice_Site	DEL	TCT	TCGA-2H-A9GF-01A-11D-A37C-09	7476810	186331970	62918651	29	29											
F13B	2165	genome.wustl.edu	37	chr1	197008522	197008522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatttctatgttcttaaggGttcttgataagacagagtgc	10	16	9	6	0	4	3	1	1	3	2	4	3	4	3	0	1	1	2	0	1	3	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:197008522G>T	ENST00000367412.1	-	12	2015	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	658					blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTTCTTAAGGGTTCTTGATAA	0.303																																																	0													149	168	161					1																	197008522		2203	4298	6501	SO:0001583	missense	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1972C>A	1.37:g.197008522G>T	ENSP00000356382:p.Pro658Thr		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P658T	ENST00000367412.1	37	c.1972	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.800552	0.00611	.	.	ENSG00000143278	ENST00000367412	D	0.82433	-1.61	4.29	0.088	0.14452	Complement control module (1);	.	.	.	.	T	0.69904	0.3163	L	0.29908	0.895	0.09310	N	0.999999	B	0.16802	0.019	B	0.14578	0.011	T	0.58244	-0.7670	9	0.62326	D	0.03	.	4.0954	0.09988	0.3129:0.1823:0.5049:0.0	.	658	P05160	F13B_HUMAN	T	658	ENSP00000356382:P658T	ENSP00000356382:P658T	P	-	1	0	F13B	195275145	0.146000	0.22672	0.067000	0.19924	0.007000	0.05969	0.156000	0.16382	-0.066000	0.12998	-0.444000	0.05651	CCC	F13B	-	superfamily_Sushi_SCR_CCP	ENSG00000143278		0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2		0	43	0	G	NM_001994		197008522	-1			no_errors	ENST00000367412	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.109	T	T	197008522	G	T	197008522	3	4	1	1	0	0	0	0	1	0	0	0	5357	1261	44	3	17	3	F13B	1	197008522	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	10676552	197008522	52242099	30	30											
CAPN2	824	genome.wustl.edu	37	chr1	223958169	223958169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttaccgagaaatcgaCgttgacaggtctggtaccat	14	10	9	8	3	1	2	0	1	1	1	2	4	1	2	2	2	2	2	2	2	5	4	rs369952708		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:223958169C>T	ENST00000295006.5	+	18	2154	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.D537D	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	615	Domain IV.|EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GAGAAATCGACGTTGACAGGT	0.418																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	84	77	79		1611,1845	-3.6	0.1	1		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CAPN2	NM_001146068.1,NM_001748.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	537/623,615/701	223958169	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1845C>T	1.37:g.223958169C>T			A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D615	ENST00000295006.5	37	c.1845	CCDS31035.1	1																																																																																			CAPN2	-	pfscan_EF_hand_dom	ENSG00000162909		0.418	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	-	0	51	0	C	NM_001748		223958169	1	tier1	-	no_errors	ENST00000295006	ensembl	human	known	74_37	silent	16.39	51	10	SNP	0.151	T	T	223958169	C	T	223958169	2	4	1	1	0	0	0	0	0	0	0	1	2634	535	19	1		1	CAPN2	1	223958169	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	26949647	223958169	25292452	31	31											
OR2T2	401992	genome.wustl.edu	37	chr1	248616437	248616437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgattggaggggaattCttcctgctgggtctcatggc	6	12	13	10	0	2	1	1	1	2	0	4	3	3	3	2	5	1	1	2	5	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:248616437C>A	ENST00000342927.3	+	1	361	c.339C>A	c.(337-339)ttC>ttA	p.F113L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGGGAATTCTTCCTGCTGG	0.542																																																	0													167	187	180					1																	248616437		2203	4300	6503	SO:0001583	missense	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.339C>A	1.37:g.248616437C>A	ENSP00000343062:p.Phe113Leu		B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F113L	ENST00000342927.3	37	c.339	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	c	9.175	1.022172	0.19433	.	.	ENSG00000196240	ENST00000342927	T	0.01172	5.23	3.59	0.0583	0.14327	GPCR, rhodopsin-like superfamily (1);	0.274190	0.26297	N	0.025193	T	0.00936	0.0031	L	0.33485	1.01	0.09310	N	1	P	0.39535	0.677	B	0.32677	0.15	T	0.53070	-0.8490	10	0.49607	T	0.09	.	7.5367	0.27714	0.0:0.4051:0.0:0.5949	.	113	Q6IF00	OR2T2_HUMAN	L	113	ENSP00000343062:F113L	ENSP00000343062:F113L	F	+	3	2	OR2T2	246683060	0.000000	0.05858	0.952000	0.39060	0.153000	0.21895	0.105000	0.15333	0.098000	0.17522	0.298000	0.19748	TTC	OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	-	0	127	0	C	NM_001004136		248616437	1	tier1	-	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	9.66	159	17	SNP	0.000	A	A	248616437	C	A	248616437	3	1	1	1	0	0	0	0	1	0	0	0	11059	912	32	3	341	3	OR2T2	1	248616437	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	24658268	248616437	634184	32	32											
OR2T34	127068	genome.wustl.edu	37	chr1	248737812	248737812	+	Frame_Shift_Del	DEL	C	C	-																															gcccacaagcatcttgggcaCagtcacgcataggtacatga																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr1:248737812delC	ENST00000328782.2	-	1	268	c.247delG	c.(247-249)gtgfs	p.V83fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTTGGGCACAGTCACGCAT	0.572																																																	0													34	28	30					1																	248737812		2106	4238	6344	SO:0001589	frameshift_variant	0			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.247delG	1.37:g.248737812delC	ENSP00000330904:p.Val83fs		B2RNJ8|Q6IEY5|Q96R31	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V83fs	ENST00000328782.2	37	c.247	CCDS31120.1	1																																																																																			OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183310		0.572	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1		0	65	0	C	NM_001001821		248737812	-1	tier1		no_errors	ENST00000328782	ensembl	human	known	74_37	frame_shift_del	12.68	62	9	DEL	0.035	-	-	248737812	C	-	248737812	7	5	1	1	0	1	0	1	0	0	0	0	11064	478	17	0	713	0	OR2T34	1	248737812	Frame_Shift_Del	DEL	C	TCGA-2H-A9GF-01A-11D-A37C-09	121375	248737812	512809	33	33											
SOX11	6664	genome.wustl.edu	37	chr2	5833012	5833012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacatcaagcggccgatGaacgcgttcatggtatggtc	9	8	13	11	4	2	1	2	1	0	0	3	2	2	1	2	4	2	2	2	4	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:5833012G>T	ENST00000322002.3	+	1	214	c.159G>T	c.(157-159)atG>atT	p.M53I	AC108025.2_ENST00000453678.1_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	53					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCGGCCGATGAACGCGTTCA	0.612																																																	0													67	58	61					2																	5833012		2203	4300	6503	SO:0001583	missense	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.159G>T	2.37:g.5833012G>T	ENSP00000322568:p.Met53Ile		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.M53I	ENST00000322002.3	37	c.159	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586175	0.86851	.	.	ENSG00000176887	ENST00000322002	D	0.94280	-3.39	3.12	3.12	0.35913	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	U	0.000000	D	0.97087	0.9048	M	0.91920	3.255	0.80722	D	1	D	0.57899	0.981	D	0.77004	0.989	D	0.98063	1.0394	10	0.87932	D	0	.	14.593	0.68383	0.0:0.0:1.0:0.0	.	53	P35716	SOX11_HUMAN	I	53	ENSP00000322568:M53I	ENSP00000322568:M53I	M	+	3	0	SOX11	5750463	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.351000	0.97073	1.449000	0.47699	0.472000	0.43445	ATG	SOX11	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	ENSG00000176887		0.612	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1		0	65	0	G	NM_003108		5833012	1			no_errors	ENST00000322002	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	5833012	G	T	5833012	3	4	1	1	0	0	0	0	1	0	0	0	14987	1290	45	3	161	3	SOX11	2	5833012	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		5833012	237366361	34	34											
NTSR2	23620	genome.wustl.edu	37	chr2	11798797	11798797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagctgagctgacgtaGaaaagtgtgttggtcaccat	11	10	12	8	1	2	3	2	2	0	1	2	3	2	3	1	1	2	4	1	1	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:11798797G>T	ENST00000306928.5	-	4	1075	c.1041C>A	c.(1039-1041)ttC>ttA	p.F347L		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	347					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	AGCTGACGTAGAAAAGTGTGT	0.532																																																	0													108	106	107					2																	11798797		2203	4300	6503	SO:0001583	missense	0			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1041C>A	2.37:g.11798797G>T	ENSP00000303686:p.Phe347Leu		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT2_rcpt,prints_NT_rcpt,prints_GPCR_Rhodpsn	p.F347L	ENST00000306928.5	37	c.1041	CCDS1681.1	2	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734101	0.48939	.	.	ENSG00000169006	ENST00000306928	T	0.35789	1.29	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.218004	0.31976	N	0.006768	T	0.45597	0.1350	M	0.71920	2.185	0.36536	D	0.871015	P	0.47484	0.896	P	0.47470	0.548	T	0.57636	-0.7777	10	0.39692	T	0.17	-32.6876	15.0657	0.71992	0.0:0.0:1.0:0.0	.	347	O95665	NTR2_HUMAN	L	347	ENSP00000303686:F347L	ENSP00000303686:F347L	F	-	3	2	NTSR2	11716248	1.000000	0.71417	0.336000	0.25522	0.166000	0.22503	3.570000	0.53834	2.324000	0.78689	0.650000	0.86243	TTC	NTSR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169006		0.532	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	HGNC	protein_coding	OTTHUMT00000239297.1		0	27	0	G			11798797	-1			no_errors	ENST00000306928	ensembl	human	known	74_37	missense	7.14	25	2	SNP	1.000	T	T	11798797	G	T	11798797	3	4	1	1	0	0	0	0	1	0	0	0	10750	933	33	3	195	3	NTSR2	2	11798797	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5965785	11798797	231400576	35	35											
APOB	338	genome.wustl.edu	37	chr2	21234673	21234673	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcattgtgttccctgaaGcggccatttgttgttaattt	6	19	9	7	1	0	1	0	1	0	0	1	1	1	1	2	1	2	4	2	1	2	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:21234673G>T	ENST00000233242.1	-	26	5194	c.5067C>A	c.(5065-5067)cgC>cgA	p.R1689R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1689					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCCCTGAAGCGGCCATTTG	0.498																																																	0													99	91	94					2																	21234673		2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5067C>A	2.37:g.21234673G>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R1689	ENST00000233242.1	37	c.5067	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	35	0	G			21234673	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.995	T	T	21234673	G	T	21234673	2	4	1	1	0	0	0	0	0	0	0	1	785	958	34	3		3	APOB	2	21234673	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	9435876	21234673	221964700	36	36											
CAD	790	genome.wustl.edu	37	chr2	27454356	27454356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtcatgggcattgggCgttcatttgaggaggccttc	7	12	15	7	1	2	2	2	2	0	0	3	3	2	3	1	4	0	2	1	4	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:27454356C>T	ENST00000403525.1	+	15	2263	c.2119C>T	c.(2119-2121)Cgt>Tgt	p.R707C	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Missense_Mutation_p.R770C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCATTGGGCGTTCATTTGA	0.512																																																	0													146	123	131					2																	27454356		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2119C>T	2.37:g.27454356C>T	ENSP00000384510:p.Arg707Cys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.R770C	ENST00000403525.1	37	c.2308		2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409476	0.83340	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95821	-3.82;-3.82	5.46	5.46	0.80206	ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	H	0.99900	4.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.98336	1.0536	10	0.87932	D	0	-2.2227	12.0939	0.53744	0.2653:0.7347:0.0:0.0	.	707;770	F8VPD4;P27708	.;PYR1_HUMAN	C	770;707	ENSP00000264705:R770C;ENSP00000384510:R707C	ENSP00000264705:R770C	R	+	1	0	CAD	27307860	0.996000	0.38824	0.997000	0.53966	0.999000	0.98932	3.464000	0.53057	2.733000	0.93635	0.655000	0.94253	CGT	CAD	-	prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.512	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0	69	0	C			27454356	1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	T	T	27454356	C	T	27454356	3	4	1	1	0	0	0	0	1	0	0	0	2572	768	27	1	2370	1	CAD	2	27454356	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6219683	27454356	215745017	37	37											
C2orf16	84226	genome.wustl.edu	37	chr2	27802662	27802662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaaattatctttcccagGccaagactgacttctcagaa	13	10	6	12	0	2	3	1	1	2	2	4	3	3	3	3	1	1	0	3	1	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:27802662G>A	ENST00000408964.2	+	1	3274	c.3223G>A	c.(3223-3225)Gcc>Acc	p.A1075T	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1075						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TCTTTCCCAGGCCAAGACTGA	0.458																																																	0													121	120	120					2																	27802662		1902	4130	6032	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3223G>A	2.37:g.27802662G>A	ENSP00000386190:p.Ala1075Thr		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.A1075T	ENST00000408964.2	37	c.3223	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722751	0.30503	.	.	ENSG00000221843	ENST00000408964	T	0.08370	3.1	4.22	-0.117	0.13551	.	.	.	.	.	T	0.04137	0.0115	N	0.24115	0.695	0.22591	N	0.99895	P	0.37038	0.579	B	0.29353	0.101	T	0.37337	-0.9710	9	0.72032	D	0.01	.	1.9313	0.03328	0.1063:0.1768:0.3552:0.3617	.	1075	Q68DN1	CB016_HUMAN	T	1075	ENSP00000386190:A1075T	ENSP00000386190:A1075T	A	+	1	0	C2orf16	27656166	0.233000	0.23772	0.761000	0.31378	0.039000	0.13416	0.262000	0.18460	0.089000	0.17243	0.195000	0.17529	GCC	C2orf16	-	NULL	ENSG00000221843		0.458	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1		0	34	0	G	NM_032266		27802662	1			no_errors	ENST00000408964	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.543	A	A	27802662	G	A	27802662	3	1	1	1	0	0	0	0	1	0	0	0	2164	1203	42	3	3225	3	C2orf16	2	27802662	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	348306	27802662	215396711	38	38											
BIRC6	57448	genome.wustl.edu	37	chr2	32740345	32740345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttcctcttctcaatcTcctgaagctattaaacaatt	10	16	3	12	0	3	1	1	1	3	0	6	1	4	1	2	0	3	2	2	0	6	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:32740345T>C	ENST00000421745.2	+	55	10991	c.10857T>C	c.(10855-10857)tcT>tcC	p.S3619S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3619					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTTCTCAATCTCCTGAAGCTA	0.408																																					Pancreas(94;175 1509 16028 18060 45422)												0													112	111	112					2																	32740345		2203	4300	6503	SO:0001819	synonymous_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10857T>C	2.37:g.32740345T>C			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S3619	ENST00000421745.2	37	c.10857	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.408	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	50	0	T	NM_016252		32740345	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.998	C	C	32740345	T	C	32740345	2	2	1	1	0	0	0	0	0	0	0	1	1440	1538	54	4		4	BIRC6	2	32740345	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	4937683	32740345	210459028	39	39											
SLC8A1	6546	genome.wustl.edu	37	chr2	40656990	40656990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatctcaggagcagaaGatcccagggccatcaaggtc	13	5	13	10	0	2	3	2	0	1	3	5	5	3	4	2	4	1	1	2	4	3	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:40656990G>T	ENST00000403092.1	-	2	464	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	SLC8A1_ENST00000408028.2_Missense_Mutation_p.S144Y|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S144Y|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S144Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S144Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S144Y|SLC8A1_ENST00000406785.2_Missense_Mutation_p.S144Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	144					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGGAGCAGAAGATCCCAGGGC	0.468																																																	0													141	130	133					2																	40656990		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.431C>A	2.37:g.40656990G>T	ENSP00000384763:p.Ser144Tyr		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.S144Y	ENST00000403092.1	37	c.431	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134667	0.56828	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.59	4.72	0.59763	Sodium/calcium exchanger membrane region (1);	0.053398	0.85682	D	0.000000	D	0.84070	0.5391	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;1.0;1.0	D	0.87974	0.2738	10	0.87932	D	0	.	12.2609	0.54649	0.0821:0.0:0.9179:0.0	.	144;144;144;144;144	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	Y	144	ENSP00000383886:S144Y;ENSP00000440727:S144Y;ENSP00000384763:S144Y;ENSP00000385678:S144Y;ENSP00000385188:S144Y;ENSP00000385535:S144Y;ENSP00000332931:S144Y;ENSP00000384908:S144Y;ENSP00000385811:S144Y;ENSP00000443515:S144Y	ENSP00000332931:S144Y	S	-	2	0	SLC8A1	40510494	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	9.669000	0.98622	1.384000	0.46424	0.563000	0.77884	TCT	SLC8A1	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000183023		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0	25	0	G	NM_021097		40656990	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T	T	40656990	G	T	40656990	3	4	1	1	0	0	0	0	1	0	0	0	14751	942	33	3	2638	3	SLC8A1	2	40656990	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	7916645	40656990	202542383	40	40											
EML4	27436	genome.wustl.edu	37	chr2	42508091	42508091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaacggaactgcctcctGagaagctcaaactggagtgg	12	7	12	10	1	2	2	2	1	0	2	3	5	3	4	2	3	5	1	2	3	4	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:42508091G>C	ENST00000318522.5	+	7	1031	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	EML4_ENST00000402711.2_Missense_Mutation_p.E199Q|EML4_ENST00000401738.3_Missense_Mutation_p.E268Q	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	257					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACTGCCTCCTGAGAAGCTCAA	0.408			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													96	84	88					2																	42508091		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.769G>C	2.37:g.42508091G>C	ENSP00000320663:p.Glu257Gln		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E257Q	ENST00000318522.5	37	c.769	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644544	0.87859	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.31247	1.5;1.5;1.5	5.24	5.24	0.73138	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.151725	0.64402	D	0.000018	T	0.47985	0.1475	L	0.40543	1.245	0.80722	D	1	P;D	0.89917	0.594;1.0	B;D	0.91635	0.261;0.999	T	0.21314	-1.0249	10	0.28530	T	0.3	-6.9654	19.1885	0.93654	0.0:0.0:1.0:0.0	.	199;257	B5MCW9;Q9HC35	.;EMAL4_HUMAN	Q	257;199;268	ENSP00000320663:E257Q;ENSP00000385059:E199Q;ENSP00000384939:E268Q	ENSP00000320663:E257Q	E	+	1	0	EML4	42361595	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.775000	0.98995	2.580000	0.87095	0.650000	0.86243	GAG	EML4	-	pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam	ENSG00000143924		0.408	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	41	0	G	NM_019063		42508091	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	C	C	42508091	G	C	42508091	3	2	1	1	0	0	0	0	1	0	0	0	5115	1291	45	5	795	5	EML4	2	42508091	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1851101	42508091	200691282	41	41											
MTIF2	4528	genome.wustl.edu	37	chr2	55471307	55471307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtacttttgcccaacattttCcagcaaccagaacagagcct	12	10	6	13	0	0	2	0	0	0	2	1	2	1	2	4	0	7	2	4	0	4	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:55471307C>G	ENST00000263629.4	-	11	1484	c.1169G>C	c.(1168-1170)gGa>gCa	p.G390A	MTIF2_ENST00000394600.3_Missense_Mutation_p.G390A|MTIF2_ENST00000403721.1_Missense_Mutation_p.G390A	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	390					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCAACATTTTCCAGCAACCAG	0.358																																																	0													79	75	76					2																	55471307		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1169G>C	2.37:g.55471307C>G	ENSP00000263629:p.Gly390Ala		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.G390A	ENST00000263629.4	37	c.1169	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592418	0.86953	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.66815	-0.08;-0.08;-0.08;-0.23	5.88	5.88	0.94601	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.88610	0.6483	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91307	0.5071	10	0.87932	D	0	-24.6123	20.2381	0.98363	0.0:1.0:0.0:0.0	.	390	P46199	IF2M_HUMAN	A	390;390;390;110;390	ENSP00000384481:G390A;ENSP00000263629:G390A;ENSP00000378099:G390A;ENSP00000403492:G110A	ENSP00000263629:G390A	G	-	2	0	MTIF2	55324811	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.625000	0.83145	2.779000	0.95612	0.650000	0.86243	GGA	MTIF2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000085760		0.358	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0	104	0	C	NM_002453		55471307	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	missense	52.94	40	45	SNP	1.000	G	G	55471307	C	G	55471307	3	3	1	1	0	0	0	0	1	0	0	0	9972	855	30	5	1038	5	MTIF2	2	55471307	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	12963216	55471307	187728066	42	42											
PNPT1	87178	genome.wustl.edu	37	chr2	55912086	55912086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaatatcttacctattattCgacttgttagaatttcttta	11	21	3	6	1	2	1	0	0	2	1	3	2	2	1	1	0	1	1	1	0	8	11			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:55912086C>T	ENST00000447944.2	-	4	481	c.395G>A	c.(394-396)cGa>cAa	p.R132Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	132					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTATTATTCGACTTGTTAG	0.378																																																	0													103	89	94					2																	55912086		2202	4300	6502	SO:0001583	missense	0			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"polynucleotide phosphorylase", "3'-5' RNA exonuclease"	610316	"deafness, autosomal recessive 70"	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.395G>A	2.37:g.55912086C>T	ENSP00000400646:p.Arg132Gln		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.R132Q	ENST00000447944.2	37	c.395	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.448782	0.96205	.	.	ENSG00000138035	ENST00000447944	T	0.53423	0.62	5.55	5.55	0.83447	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89739	0.3932	10	0.87932	D	0	-11.7345	19.0931	0.93235	0.0:1.0:0.0:0.0	.	132	Q8TCS8	PNPT1_HUMAN	Q	132	ENSP00000400646:R132Q	ENSP00000260604:R132Q	R	-	2	0	PNPT1	55765590	1.000000	0.71417	0.993000	0.49108	0.915000	0.54546	7.431000	0.80335	2.611000	0.88343	0.563000	0.77884	CGA	PNPT1	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase	ENSG00000138035		0.378	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	-	0	29	0	C	NM_033109		55912086	-1	tier1	-	no_errors	ENST00000415374	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	T	T	55912086	C	T	55912086	3	4	1	1	0	0	0	0	1	0	0	0	12212	884	31	1	2056	1	PNPT1	2	55912086	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	440779	55912086	187287287	43	43											
ETAA1	54465	genome.wustl.edu	37	chr2	67632365	67632365	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgataccaaaattacaCagggtgtggagaaaaagaaa	18	8	10	5	0	1	3	0	1	1	2	1	4	1	3	1	2	2	0	1	2	7	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:67632365C>T	ENST00000272342.5	+	5	2681	c.2551C>T	c.(2551-2553)Cag>Tag	p.Q851*	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	851						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CAAAATTACACAGGGTGTGGA	0.333																																																	0													38	39	39					2																	67632365		2199	4292	6491	SO:0001587	stop_gained	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2551C>T	2.37:g.67632365C>T	ENSP00000272342:p.Gln851*		Q05BT7|Q53SC4	Nonsense_Mutation	SNP	NULL	p.Q851*	ENST00000272342.5	37	c.2551	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.727106	0.97792	.	.	ENSG00000143971	ENST00000272342	.	.	.	5.37	3.52	0.40303	.	0.284166	0.30329	N	0.009869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-1.0764	15.3737	0.74587	0.0:0.7373:0.2627:0.0	.	.	.	.	X	851	.	ENSP00000272342:Q851X	Q	+	1	0	ETAA1	67485869	0.044000	0.20184	0.026000	0.17262	0.810000	0.45777	1.394000	0.34509	0.691000	0.31592	0.655000	0.94253	CAG	ETAA1	-	NULL	ENSG00000143971		0.333	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	47	0	C	NM_019002		67632365	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.144	T	T	67632365	C	T	67632365	4	4	1	1	0	0	0	0	0	1	0	0	5283	479	17	3	2569	3	ETAA1	2	67632365	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	11720279	67632365	175567008	44	44											
TET3	200424	genome.wustl.edu	37	chr2	74275330	74275330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatcaagattgagtcttcGggggctgtgactgtgctctc	8	12	12	9	1	3	3	1	2	2	1	5	3	3	3	0	2	1	2	0	2	2	2	rs566225972		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:74275330G>A	ENST00000409262.3	+	1	1881	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	627					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGAGTCTTCGGGGGCTGTGA	0.587																																																	0													34	42	39					2																	74275330		1956	4155	6111	SO:0001819	synonymous_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1881G>A	2.37:g.74275330G>A			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.S627	ENST00000409262.3	37	c.1881	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.587	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0	54	0	G			74275330	1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	silent	24.00	38	12	SNP	0.150	A	A	74275330	G	A	74275330	2	1	1	1	0	0	0	0	0	0	0	1	15818	1103	39	1		1	TET3	2	74275330	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	6642965	74275330	168924043	45	45											
TACR1	6869	genome.wustl.edu	37	chr2	75425905	75425905	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaagatgatccacatcacTaccacgttgcccaccacaga	13	7	6	15	1	1	3	1	1	0	2	2	3	2	3	4	0	2	2	4	0	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:75425905T>C	ENST00000305249.5	-	1	921	c.156A>G	c.(154-156)gtA>gtG	p.V52V	TACR1_ENST00000409848.3_Silent_p.V52V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	52					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TCCACATCACTACCACGTTGC	0.527																																					Pancreas(64;62 1268 3653 14826 43765)												0													156	132	140					2																	75425905		2203	4300	6503	SO:0001819	synonymous_variant	0			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.156A>G	2.37:g.75425905T>C			A8K150	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.V52	ENST00000305249.5	37	c.156	CCDS1958.1	2																																																																																			TACR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000115353		0.527	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	-	0	40	0	T	NM_001058		75425905	-1	tier1	-	no_errors	ENST00000305249	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	C	C	75425905	T	C	75425905	2	2	1	1	0	0	0	0	0	0	0	1	15552	1509	53	4		4	TACR1	2	75425905	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	1150575	75425905	167773468	46	46											
C2orf51	200523	genome.wustl.edu	37	chr2	88828813	88828813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgcacctggcccagggtGaccccaaccaggtcctccag	8	6	10	17	0	1	1	0	1	1	0	3	1	3	1	7	3	2	1	7	3	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:88828813G>A	ENST00000303254.3	+	4	506	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_152670.2	NP_689883.1	Q96LM6	TEX37_HUMAN	testis expressed 37	122						nucleus (GO:0005634)											GGCCCAGGGTGACCCCAACCA	0.592																																																	0													121	110	113					2																	88828813		2203	4300	6503	SO:0001583	missense	0			AK058098	CCDS2003.1	2p11.2	2014-01-28	2012-09-14	2012-09-14	ENSG00000172073	ENSG00000172073			26341	protein-coding gene	gene with protein product	"Testis-Specific Conserved gene 21kDa"		"chromosome 2 open reading frame 51"	C2orf51		17091336	Standard	NM_152670		Approved	FLJ25369, TSC21	uc002stb.2	Q96LM6	OTTHUMG00000130332	ENST00000303254.3:c.364G>A	2.37:g.88828813G>A	ENSP00000307142:p.Asp122Asn			Missense_Mutation	SNP	NULL	p.D122N	ENST00000303254.3	37	c.364	CCDS2003.1	2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041802	0.35989	.	.	ENSG00000172073	ENST00000303254	T	0.57907	0.37	3.98	0.0185	0.14117	.	0.412228	0.20693	N	0.087439	T	0.34135	0.0887	L	0.34521	1.04	0.09310	N	1	B	0.22909	0.077	B	0.19391	0.025	T	0.16928	-1.0386	10	0.51188	T	0.08	-2.8584	4.4571	0.11649	0.2093:0.3624:0.4283:0.0	.	122	Q96LM6	TSC21_HUMAN	N	122	ENSP00000307142:D122N	ENSP00000307142:D122N	D	+	1	0	C2orf51	88609928	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.120000	0.10660	-0.009000	0.14296	0.462000	0.41574	GAC	TEX37	-	NULL	ENSG00000172073		0.592	TEX37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX37	HGNC	protein_coding	OTTHUMT00000252682.1	-	0	43	0	G	NM_152670		88828813	1	tier1	-	no_errors	ENST00000303254	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.000	A	A	88828813	G	A	88828813	3	1	1	1	0	0	0	0	1	0	0	0	2180	1290	45	3	374	3	C2orf51	2	88828813	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	13402908	88828813	154370560	47	47											
MRPS5	64969	genome.wustl.edu	37	chr2	95770416	95770416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgttccccacagccacCaagacacggatcgatttctt	9	11	6	15	3	1	1	0	0	1	1	4	3	3	2	5	1	1	1	5	1	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:95770416C>T	ENST00000272418.2	-	7	940	c.732G>A	c.(730-732)ttG>ttA	p.L244L		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	244	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CCACAGCCACCAAGACACGGA	0.488																																																	0													178	151	160					2																	95770416		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.732G>A	2.37:g.95770416C>T			Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.L244	ENST00000272418.2	37	c.732	CCDS2010.1	2																																																																																			MRPS5	-	pfam_Ribosomal_S5_N,pfscan_Ribosomal_S5_N	ENSG00000144029		0.488	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	-	0	43	0	C	NM_031902		95770416	-1	tier1	-	no_errors	ENST00000272418	ensembl	human	known	74_37	silent	26.92	38	14	SNP	1.000	T	T	95770416	C	T	95770416	2	4	1	1	0	0	0	0	0	0	0	1	9884	593	21	3		3	MRPS5	2	95770416	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6941603	95770416	147428957	48	48											
REV1	51455	genome.wustl.edu	37	chr2	100046332	100046332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactacaagatgcaatttcaGcccttgacaaaacagaatca	18	8	5	10	0	2	3	2	1	0	2	2	3	2	3	1	0	5	1	1	0	7	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:100046332G>A	ENST00000258428.3	-	9	1745	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	REV1_ENST00000393445.3_Missense_Mutation_p.A505V|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	506	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCAATTTCAGCCCTTGACAA	0.299								Direct reversal of damage																																									0													84	79	81					2																	100046332		2203	4300	6503	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1517C>T	2.37:g.100046332G>A	ENSP00000258428:p.Ala506Val		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.A506V	ENST00000258428.3	37	c.1517	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.133522	0.94517	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	T;T;T	0.71461	-0.57;-0.57;-0.57	5.52	5.52	0.82312	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.049656	0.85682	D	0.000000	D	0.84306	0.5443	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85391	0.1125	10	0.72032	D	0.01	.	19.4462	0.94847	0.0:0.0:1.0:0.0	.	506;505	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	V	505;506;143	ENSP00000377091:A505V;ENSP00000258428:A506V;ENSP00000414875:A143V	ENSP00000258428:A506V	A	-	2	0	REV1	99412764	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.872000	0.92352	2.583000	0.87209	0.650000	0.86243	GCT	REV1	-	pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N	ENSG00000135945		0.299	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	-	0	28	0	G	NM_016316		100046332	-1	tier1	-	no_errors	ENST00000258428	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	100046332	G	A	100046332	3	1	1	1	0	0	0	0	1	0	0	0	13284	971	34	3	2298	3	REV1	2	100046332	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4275916	100046332	143153041	49	49											
ZC3H6	376940	genome.wustl.edu	37	chr2	113089797	113089797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccacaaaaacccagtcCaaacgtgggagtcactcttg	12	8	7	14	1	2	0	1	0	1	0	4	1	4	1	4	1	2	0	4	1	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:113089797C>A	ENST00000409871.1	+	12	3703	c.3302C>A	c.(3301-3303)cCa>cAa	p.P1101Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P1101Q|AC115115.2_ENST00000607612.1_RNA	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1101							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAACCCAGTCCAAACGTGGGA	0.507																																																	0													44	45	45					2																	113089797		1912	4138	6050	SO:0001583	missense	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3302C>A	2.37:g.113089797C>A	ENSP00000386764:p.Pro1101Gln		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P1101Q	ENST00000409871.1	37	c.3302	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	C	0.123	-1.122840	0.01785	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.14266	2.52;2.52	5.43	4.55	0.56014	.	1.057020	0.07313	N	0.876272	T	0.16557	0.0398	L	0.43152	1.355	0.09310	N	1	P	0.37864	0.61	B	0.35607	0.206	T	0.31081	-0.9956	10	0.54805	T	0.06	-0.4332	14.021	0.64555	0.0:0.9269:0.0:0.0731	.	1101	P61129	ZC3H6_HUMAN	Q	1101	ENSP00000386764:P1101Q;ENSP00000340298:P1101Q	ENSP00000340298:P1101Q	P	+	2	0	ZC3H6	112806268	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	0.929000	0.28844	1.258000	0.44101	0.655000	0.94253	CCA	ZC3H6	-	NULL	ENSG00000188177		0.507	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	-	0	34	0	C	NM_198581		113089797	1	tier1	-	no_errors	ENST00000343936	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.017	A	A	113089797	C	A	113089797	3	1	1	1	0	0	0	0	1	0	0	0	17619	594	21	3	3348	3	ZC3H6	2	113089797	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	13043465	113089797	130109576	50	50											
ZRANB3	84083	genome.wustl.edu	37	chr2	136033263	136033264	+	Frame_Shift_Ins	INS	-	-	C																															tgcttaaatggtgagcaaaaINSaccagaaatttaagcgaatc																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:136033263_136033264insC	ENST00000264159.6	-	9	1144_1145	c.1028_1029insG	c.(1027-1029)gttfs	p.V343fs	ZRANB3_ENST00000536680.1_Frame_Shift_Ins_p.V343fs|ZRANB3_ENST00000401392.1_Frame_Shift_Ins_p.V343fs	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	343	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGTGAGCAAAAACCAGAAATTT	0.317																																																	0																																										SO:0001589	frameshift_variant	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1028_1029insG	2.37:g.136033263_136033264insC	ENSP00000264159:p.Val343fs		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A345fs	ENST00000264159.6	37	c.1029_1028	CCDS46419.1	2																																																																																			ZRANB3	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000121988		0.317	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1		0	40	0	-	NM_032143		136033264	-1	tier1		no_errors	ENST00000264159	ensembl	human	known	74_37	frame_shift_ins	16.28	36	7	INS	0.998:1.000	C	C	136033264	-	C	136033263	7	5	1	1	0	1	1	0	0	0	0	0	18272	1	1	0	2262	0	ZRANB3	2	136033263	Frame_Shift_Ins	INS	-	TCGA-2H-A9GF-01A-11D-A37C-09	22943466	136033263	107166110	51	51											
LRP1B	53353	genome.wustl.edu	37	chr2	141272290	141272290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacaaatccaatgcttaGaaatacatttttgtgcggaa	15	12	6	8	1	1	1	1	0	0	1	2	2	2	2	1	1	3	1	1	1	6	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:141272290G>A	ENST00000389484.3	-	51	9172	c.8201C>T	c.(8200-8202)tCt>tTt	p.S2734F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2734	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAATGCTTAGAAATACATTT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													116	109	112					2																	141272290		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8201C>T	2.37:g.141272290G>A	ENSP00000374135:p.Ser2734Phe		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S2734F	ENST00000389484.3	37	c.8201	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.113718	0.94339	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95918	-3.85	5.53	5.53	0.82687	.	0.074436	0.53938	U	0.000041	D	0.95875	0.8657	L	0.35593	1.075	0.47584	D	0.999465	D	0.61080	0.989	P	0.61070	0.883	D	0.95951	0.8954	10	0.56958	D	0.05	.	19.8158	0.96568	0.0:0.0:1.0:0.0	.	2734	Q9NZR2	LRP1B_HUMAN	F	2734;2672	ENSP00000374135:S2734F	ENSP00000374135:S2734F	S	-	2	0	LRP1B	140988760	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.359000	0.97115	2.749000	0.94314	0.655000	0.94253	TCT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	43	0	G	NM_018557		141272290	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	A	A	141272290	G	A	141272290	3	1	1	1	0	0	0	0	1	0	0	0	8990	942	33	3	5762	3	LRP1B	2	141272290	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5239027	141272290	101927083	52	52											
LRP1B	53353	genome.wustl.edu	37	chr2	141747211	141747211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttaaactgatcatcaGgacagctatgattgactggg	12	11	11	7	0	2	3	2	3	0	0	2	4	2	4	0	3	2	2	0	3	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:141747211G>A	ENST00000389484.3	-	17	3631	c.2660C>T	c.(2659-2661)cCt>cTt	p.P887L	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGATCATCAGGACAGCTATG	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													116	108	110					2																	141747211		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2660C>T	2.37:g.141747211G>A	ENSP00000374135:p.Pro887Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P887L	ENST00000389484.3	37	c.2660	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989837	0.74589	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.69	4.8	0.61643	.	0.000000	0.85682	U	0.000000	D	0.93367	0.7885	L	0.46819	1.47	0.80722	D	1	P	0.34955	0.477	B	0.41946	0.371	D	0.91998	0.5608	10	0.33940	T	0.23	.	16.9901	0.86351	0.0:0.1276:0.8724:0.0	.	887	Q9NZR2	LRP1B_HUMAN	L	887;825	ENSP00000374135:P887L	ENSP00000374135:P887L	P	-	2	0	LRP1B	141463681	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.948000	0.87774	1.522000	0.49001	-0.175000	0.13238	CCT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	51	0	G	NM_018557		141747211	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	A	A	141747211	G	A	141747211	3	1	1	1	0	0	0	0	1	0	0	0	8990	1000	35	3	11439	3	LRP1B	2	141747211	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	474921	141747211	101452162	53	53											
KIF5C	3800	genome.wustl.edu	37	chr2	149829945	149829945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatagacaatattgctcctGttgttgctggcatctctaca	9	15	7	10	0	2	1	1	0	1	1	4	1	3	1	1	1	3	5	1	1	4	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:149829945G>A	ENST00000435030.1	+	12	1581	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIF5C_ENST00000397413.1_Missense_Mutation_p.V173I|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.V310I			O60282	KIF5C_HUMAN	kinesin family member 5C	405					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TATTGCTCCTGTTGTTGCTGG	0.488																																																	0													111	116	115					2																	149829945		1952	4149	6101	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1213G>A	2.37:g.149829945G>A	ENSP00000393379:p.Val405Ile		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.V405I	ENST00000435030.1	37	c.1213		2	.	.	.	.	.	.	.	.	.	.	G	8.163	0.790005	0.16258	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.75704	-0.96;-0.96;-0.96	5.95	5.95	0.96441	.	0.282320	0.33217	N	0.005152	T	0.63367	0.2505	.	.	.	0.29469	N	0.857189	B	0.02656	0.0	B	0.04013	0.001	T	0.48186	-0.9057	9	0.14252	T	0.57	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	405	O60282	KIF5C_HUMAN	I	405;310;308;173	ENSP00000393379:V405I;ENSP00000410115:V310I;ENSP00000380560:V173I	ENSP00000334176:V308I	V	+	1	0	KIF5C	149538191	0.985000	0.35326	0.754000	0.31244	0.949000	0.60115	6.722000	0.74735	2.824000	0.97209	0.655000	0.94253	GTT	KIF5C	-	superfamily_P-loop_NTPase	ENSG00000168280		0.488	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	-	0	44	0	G	NM_004522		149829945	1	tier1	-	no_errors	ENST00000435030	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.900	A	A	149829945	G	A	149829945	3	1	1	1	0	0	0	0	1	0	0	0	8334	1377	48	3	1181	3	KIF5C	2	149829945	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	8082734	149829945	93369428	54	54											
NEB	4703	genome.wustl.edu	37	chr2	152492780	152492780	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccttggccgccacgatGgggatggcgtcgcttcgcaa	6	7	16	12	5	0	0	0	0	0	0	2	3	0	1	3	5	0	2	3	5	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:152492780G>T	ENST00000172853.10	-	62	9037				NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Silent_p.P3021P|NEB_ENST00000397345.3_Silent_p.P3021P|NEB_ENST00000427231.2_Silent_p.P3021P|NEB_ENST00000603639.1_Silent_p.P3021P			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGCCACGATGGGGATGGCGT	0.443																																																	0													115	115	115					2																	152492780		692	1591	2283	SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8889+3590C>A	2.37:g.152492780G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.P3021	ENST00000172853.10	37	c.9063		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.443	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	54	0	G	NM_004543		152492780	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.571	T	T	152492780	G	T	152492780	1	4	1	0	1	0	0	0	0	0	0	0	10341	1335	47	3		3	NEB	2	152492780	Intron	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2662835	152492780	90706593	55	55											
TANC1	85461	genome.wustl.edu	37	chr2	160032893	160032893	+	Frame_Shift_Del	DEL	T	T	-																															tcctgaagaagaatacattaTtttgatagatggcttaaatg																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:160032893delT	ENST00000263635.6	+	13	2003	c.1766delT	c.(1765-1767)attfs	p.I589fs	TANC1_ENST00000454300.1_Frame_Shift_Del_p.I483fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	589					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAATACATTATTTTGATAGAT	0.299																																																	0													71	68	69					2																	160032893		1795	4054	5849	SO:0001589	frameshift_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1766delT	2.37:g.160032893delT	ENSP00000263635:p.Ile589fs		C9JD88|Q49AI8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.L590fs	ENST00000263635.6	37	c.1766	CCDS42766.1	2																																																																																			TANC1	-	NULL	ENSG00000115183		0.299	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0	62	0	T			160032893	1	tier1		no_errors	ENST00000263635	ensembl	human	known	74_37	frame_shift_del	48.94	24	23	DEL	1.000	-	-	160032893	T	-	160032893	7	5	1	1	0	1	0	1	0	0	0	0	15591	1493	52	0	1808	0	TANC1	2	160032893	Frame_Shift_Del	DEL	T	TCGA-2H-A9GF-01A-11D-A37C-09	7540113	160032893	83166480	56	56											
FIGN	55137	genome.wustl.edu	37	chr2	164466996	164466996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggttggatgaggtagctGcacggagtccagggccttgc	7	9	17	8	1	0	1	0	1	0	0	1	3	1	3	2	5	3	4	2	5	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:164466996G>T	ENST00000333129.3	-	3	1660	c.1346C>A	c.(1345-1347)gCa>gAa	p.A449E	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	449					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGAGGTAGCTGCACGGAGTCC	0.532																																																	0													106	109	108					2																	164466996		2149	4248	6397	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1346C>A	2.37:g.164466996G>T	ENSP00000333836:p.Ala449Glu		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A449E	ENST00000333129.3	37	c.1346	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609140	0.28623	.	.	ENSG00000182263	ENST00000333129	D	0.92048	-2.96	5.9	5.9	0.94986	.	0.252645	0.41605	D	0.000847	D	0.84410	0.5466	N	0.08118	0	0.58432	D	0.999998	B	0.12630	0.006	B	0.06405	0.002	T	0.78168	-0.2309	10	0.18710	T	0.47	-9.8151	20.2723	0.98479	0.0:0.0:1.0:0.0	.	449	Q5HY92	FIGN_HUMAN	E	449	ENSP00000333836:A449E	ENSP00000333836:A449E	A	-	2	0	FIGN	164175242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	GCA	FIGN	-	NULL	ENSG00000182263		0.532	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	55	0	G	NM_018086		164466996	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	T	T	164466996	G	T	164466996	3	4	1	1	0	0	0	0	1	0	0	0	5913	1319	46	3	937	3	FIGN	2	164466996	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4434103	164466996	78732377	57	57											
SCN2A	6326	genome.wustl.edu	37	chr2	166198961	166198961	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggaaggattgtcagtTctccgatcattccggctggt	8	13	12	8	2	3	0	2	0	1	0	5	3	4	2	2	4	0	2	2	4	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:166198961T>G	ENST00000375437.2	+	15	2834	c.2544T>G	c.(2542-2544)gtT>gtG	p.V848V	SCN2A_ENST00000283256.6_Silent_p.V848V|SCN2A_ENST00000375427.2_Silent_p.V848V|SCN2A_ENST00000357398.3_Silent_p.V848V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	848					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATTGTCAGTTCTCCGATCAT	0.338																																																	0													149	154	153					2																	166198961		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2544T>G	2.37:g.166198961T>G			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V848	ENST00000375437.2	37	c.2544	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.338	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	81	0	T	NM_021007		166198961	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	22.81	44	13	SNP	0.998	G	G	166198961	T	G	166198961	2	3	1	1	0	0	0	0	0	0	0	1	13961	1770	62	4		4	SCN2A	2	166198961	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	1731965	166198961	77000412	58	58											
SCN2A	6326	genome.wustl.edu	37	chr2	166231459	166231459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacgtaggacttggatatCtgtctctacttcaagtagta	12	14	8	7	1	3	0	1	0	2	0	4	2	3	2	0	2	2	3	0	2	7	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:166231459C>A	ENST00000375437.2	+	22	4527	c.4237C>A	c.(4237-4239)Ctg>Atg	p.L1413M	SCN2A_ENST00000283256.6_Missense_Mutation_p.L1413M|SCN2A_ENST00000375427.2_Missense_Mutation_p.L1413M|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1413M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1413					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACTTGGATATCTGTCTCTACT	0.348																																																	0													46	45	45					2																	166231459		2203	4299	6502	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4237C>A	2.37:g.166231459C>A	ENSP00000364586:p.Leu1413Met		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L1413M	ENST00000375437.2	37	c.4237	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428890	0.43122	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47	4.67	4.67	0.58626	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.98704	0.9565	M	0.90595	3.13	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99827	1.1051	10	0.87932	D	0	.	17.9467	0.89040	0.0:1.0:0.0:0.0	.	1413;1413	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1413	ENSP00000364586:L1413M;ENSP00000349973:L1413M;ENSP00000283256:L1413M;ENSP00000364576:L1413M	ENSP00000283256:L1413M	L	+	1	2	SCN2A	165939705	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	7.776000	0.85560	2.291000	0.77112	0.655000	0.94253	CTG	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	37	0	C	NM_021007		166231459	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A	A	166231459	C	A	166231459	3	1	1	1	0	0	0	0	1	0	0	0	13961	912	32	3	4415	3	SCN2A	2	166231459	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	32498	166231459	76967914	59	59											
TTN	7273	genome.wustl.edu	37	chr2	179469737	179469737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacttcaacgtgaacatttCggaacactgagccaaggcga	14	8	9	10	3	1	2	1	2	0	0	2	4	1	3	1	2	5	0	1	2	5	3	rs376932266		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:179469737C>T	ENST00000591111.1	-	230	49468	c.49244G>A	c.(49243-49245)cGa>cAa	p.R16415Q	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9116Q|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18056Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8991Q|TTN_ENST00000342992.6_Missense_Mutation_p.R15488Q|TTN_ENST00000342175.6_Missense_Mutation_p.R9183Q			Q8WZ42	TITIN_HUMAN	titin	16415	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGAACATTTCGGAACACTGA	0.438																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3884		0,0,1942	259	241	247		26972,46463,27347,27548	5.1	1	2		247	1,8263		0,1,4131	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	43,43,43,43	0,1,6073	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	8991/26927,15488/33424,9116/27052,9183/27119	179469737	1,12147	1942	4132	6074	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49244G>A	2.37:g.179469737C>T	ENSP00000465570:p.Arg16415Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R15488Q	ENST00000591111.1	37	c.46463		2	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563247	0.45694	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.95	5.07	0.68467	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53126	0.1777	L	0.31476	0.935	0.44652	D	0.997631	P;P;P;P	0.46142	0.873;0.873;0.873;0.774	B;B;B;B	0.35655	0.207;0.207;0.207;0.207	T	0.60959	-0.7159	9	0.87932	D	0	.	15.0246	0.71659	0.0:0.9319:0.0:0.0681	.	8991;9116;9183;16415	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15488;8991;9183;9116;8991	ENSP00000343764:R15488Q;ENSP00000434586:R8991Q;ENSP00000340554:R9183Q;ENSP00000352154:R9116Q	ENSP00000340554:R9183Q	R	-	2	0	TTN	179177982	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.754000	0.55189	1.517000	0.48917	0.563000	0.77884	CGA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	32	0	C	NM_133378		179469737	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	T	T	179469737	C	T	179469737	3	4	1	1	0	0	0	0	1	0	0	0	16784	884	31	1	53858	1	TTN	2	179469737	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	13238278	179469737	63729636	60	60											
FSIP2	401024	genome.wustl.edu	37	chr2	186665372	186665372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgataaagggtctgtttCagaggaaacatcagcagaag	14	9	11	7	0	3	3	2	1	1	2	4	4	4	4	1	2	2	2	1	2	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:186665372C>T	ENST00000424728.1	+	17	11339	c.11339C>T	c.(11338-11340)tCa>tTa	p.S3780L	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.S3869L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3780										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGGTCTGTTTCAGAGGAAACA	0.358																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11339C>T	2.37:g.186665372C>T	ENSP00000401306:p.Ser3780Leu		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.S3869L	ENST00000424728.1	37	c.11606		2	.	.	.	.	.	.	.	.	.	.	C	0.868	-0.732865	0.03135	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.53423	0.62;0.63	5.1	3.97	0.46021	.	.	.	.	.	T	0.23210	0.0561	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.24870	-1.0148	7	0.02654	T	1	.	7.1247	0.25465	0.0:0.8387:0.0:0.1613	.	.	.	.	L	3869;3780	ENSP00000344403:S3869L;ENSP00000401306:S3780L	ENSP00000344403:S3869L	S	+	2	0	FSIP2	186373617	0.032000	0.19561	0.003000	0.11579	0.030000	0.12068	0.741000	0.26202	1.033000	0.39918	0.460000	0.39030	TCA	FSIP2	-	NULL	ENSG00000188738		0.358	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	48	0	C	NM_173651		186665372	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.009	T	T	186665372	C	T	186665372	3	4	1	1	0	0	0	0	1	0	0	0	6099	838	29	3	11672	3	FSIP2	2	186665372	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7195635	186665372	56534001	61	61											
FAM171B	165215	genome.wustl.edu	37	chr2	187559095	187559095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggaggctgaggaggaGaggacagaggtgcctggggc	9	4	22	6	0	0	3	0	1	0	2	0	8	0	7	1	9	1	1	1	9	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:187559095G>T	ENST00000304698.5	+	1	398	c.195G>T	c.(193-195)gaG>gaT	p.E65D	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	65						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGAGGAGGAGAGGACAGAGG	0.617																																																	0													34	36	36					2																	187559095		2203	4299	6502	SO:0001583	missense	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.195G>T	2.37:g.187559095G>T	ENSP00000304108:p.Glu65Asp		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E65D	ENST00000304698.5	37	c.195	CCDS33347.1	2	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082616	0.20309	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.43688	0.94	3.8	-2.11	0.07187	.	1.045680	0.07563	N	0.917322	T	0.21145	0.0509	N	0.19112	0.55	0.20489	N	0.999899	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20338	-1.0278	10	0.25751	T	0.34	-0.0354	1.2836	0.02046	0.1978:0.3223:0.3158:0.1641	.	65;66	Q6P995;A8K122	F171B_HUMAN;.	D	65	ENSP00000304108:E65D	ENSP00000272804:E65D	E	+	3	2	FAM171B	187267340	1.000000	0.71417	0.361000	0.25849	0.359000	0.29487	1.186000	0.32078	-0.199000	0.10317	-0.195000	0.12781	GAG	FAM171B	-	NULL	ENSG00000144369		0.617	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	-	0	59	0	G	NM_177454		187559095	1	tier1	-	no_errors	ENST00000304698	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.675	T	T	187559095	G	T	187559095	3	4	1	1	0	0	0	0	1	0	0	0	5510	933	33	3	197	3	FAM171B	2	187559095	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	893723	187559095	55640278	62	62											
MYO1B	4430	genome.wustl.edu	37	chr2	192160886	192160886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taacccataccggtctttacCcatttattcaccagagaaag	13	11	5	12	1	2	1	1	0	1	1	2	2	2	1	4	1	3	0	4	1	5	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:192160886C>A	ENST00000392318.3	+	3	432	c.185C>A	c.(184-186)cCc>cAc	p.P62H	MYO1B_ENST00000339514.4_Missense_Mutation_p.P62H|MYO1B_ENST00000304164.4_Missense_Mutation_p.P62H|MYO1B_ENST00000392316.1_Missense_Mutation_p.P62H	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	62	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CGGTCTTTACCCATTTATTCA	0.348																																																	0													138	125	130					2																	192160886		2203	4300	6503	SO:0001583	missense	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.185C>A	2.37:g.192160886C>A	ENSP00000376132:p.Pro62His		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P62H	ENST00000392318.3	37	c.185	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076396	0.76415	.	.	ENSG00000128641	ENST00000418908;ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000438652;ENST00000451437;ENST00000420448;ENST00000392316	T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.27	5.27	0.74061	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.68943	0.958;0.961	D	0.88757	0.3254	10	0.72032	D	0.01	.	19.2374	0.93866	0.0:1.0:0.0:0.0	.	62;62	O43795;O43795-2	MYO1B_HUMAN;.	H	62	ENSP00000401324:P62H;ENSP00000341903:P62H;ENSP00000376132:P62H;ENSP00000306382:P62H;ENSP00000399459:P62H;ENSP00000388140:P62H;ENSP00000387610:P62H;ENSP00000376130:P62H	ENSP00000306382:P62H	P	+	2	0	MYO1B	191869131	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.580000	0.82523	2.625000	0.88918	0.579000	0.79373	CCC	MYO1B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000128641		0.348	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	-	0	75	0	C	NM_012223		192160886	1	tier1	-	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	192160886	C	A	192160886	3	1	1	1	0	0	0	0	1	0	0	0	10107	623	22	3	191	3	MYO1B	2	192160886	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4601791	192160886	51038487	63	63											
PLCL1	5334	genome.wustl.edu	37	chr2	198949685	198949685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaataaatttgcctttgttGcttctgaatacccactcatt	11	17	4	9	0	2	1	1	1	1	0	2	1	2	1	2	0	3	2	2	0	6	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:198949685G>T	ENST00000428675.1	+	2	1842	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S	PLCL1_ENST00000437704.2_Missense_Mutation_p.A384S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	482	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGCCTTTGTTGCTTCTGAATA	0.388																																																	0													71	70	70					2																	198949685		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1444G>T	2.37:g.198949685G>T	ENSP00000402861:p.Ala482Ser		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.A482S	ENST00000428675.1	37	c.1444	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	4.205	0.036707	0.08148	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.63417	-0.04;-0.04	5.94	5.07	0.68467	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000003	T	0.46698	0.1406	L	0.31804	0.96	0.44345	D	0.997231	B;B	0.23128	0.08;0.044	B;B	0.24006	0.05;0.034	T	0.36768	-0.9734	9	.	.	.	.	8.6284	0.33904	0.0694:0.0:0.67:0.2606	.	482;408	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	482;384	ENSP00000402861:A482S;ENSP00000414138:A384S	.	A	+	1	0	PLCL1	198657930	1.000000	0.71417	0.947000	0.38551	0.806000	0.45545	3.865000	0.56033	1.533000	0.49186	0.561000	0.74099	GCT	PLCL1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000115896		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	18	0	G	NM_006226		198949685	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.993	T	T	198949685	G	T	198949685	3	4	1	1	0	0	0	0	1	0	0	0	12078	1319	46	3	1450	3	PLCL1	2	198949685	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	6788799	198949685	44249688	64	64											
NBEAL1	65065	genome.wustl.edu	37	chr2	204048019	204048019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaatttaacttgggtcgtCtacagatttccaaagaatta	14	14	7	6	1	1	3	0	0	1	3	3	3	2	3	1	1	2	0	1	1	7	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:204048019C>G	ENST00000449802.1	+	43	6859	c.6526C>G	c.(6526-6528)Cta>Gta	p.L2176V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2176	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTGGGTCGTCTACAGATTTC	0.313																																																	0													84	82	83					2																	204048019		1790	4055	5845	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6526C>G	2.37:g.204048019C>G	ENSP00000399903:p.Leu2176Val		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2176V	ENST00000449802.1	37	c.6526	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264226	0.59431	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.77098	-1.07;-1.07	5.93	3.12	0.35913	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.82517	2.595	0.47341	D	0.999399	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.998	D	0.86476	0.1788	10	0.52906	T	0.07	.	10.6552	0.45671	0.0:0.7857:0.0:0.2143	.	2176;2165	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	2176;2176;191	ENSP00000399903:L2176V;ENSP00000388466:L191V	ENSP00000344985:L2176V	L	+	1	2	NBEAL1	203756264	0.564000	0.26602	0.627000	0.29227	0.957000	0.61999	1.097000	0.30988	0.816000	0.34421	0.585000	0.79938	CTA	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000144426		0.313	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0	55	0	C			204048019	1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	50.00	28	28	SNP	0.577	G	G	204048019	C	G	204048019	3	3	1	1	0	0	0	0	1	0	0	0	10226	912	32	5	6692	5	NBEAL1	2	204048019	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	5098334	204048019	39151354	65	65											
ADAM23	8745	genome.wustl.edu	37	chr2	207437884	207437884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgctgtgaacgagtgtGatattactgaatattgtact	11	14	12	4	1	0	3	0	3	0	0	0	5	0	4	0	1	4	2	0	1	6	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:207437884G>T	ENST00000264377.3	+	18	2030	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	ADAM23_ENST00000374416.1_Missense_Mutation_p.D568Y|ADAM23_ENST00000374415.3_Missense_Mutation_p.D568Y	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	568	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.|May bind the integrin receptor.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GAACGAGTGTGATATTACTGA	0.378																																					Melanoma(194;1127 2130 19620 24042 27855)												0													272	241	251					2																	207437884		2203	4300	6503	SO:0001583	missense	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1702G>T	2.37:g.207437884G>T	ENSP00000264377:p.Asp568Tyr		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.D568Y	ENST00000264377.3	37	c.1702	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534043	0.85812	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.15487	2.42;2.42;2.42	5.81	5.81	0.92471	Blood coagulation inhibitor, Disintegrin (5);	0.000000	0.64402	D	0.000007	T	0.60508	0.2274	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74962	-0.3485	10	0.87932	D	0	.	18.9069	0.92466	0.0:0.0:1.0:0.0	.	568	O75077	ADA23_HUMAN	Y	568;568;462;568	ENSP00000264377:D568Y;ENSP00000363537:D568Y;ENSP00000363536:D568Y	ENSP00000264377:D568Y	D	+	1	0	ADAM23	207146129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.216000	0.89764	2.755000	0.94549	0.650000	0.86243	GAT	ADAM23	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000114948		0.378	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	-	0	98	0	G	NM_003812		207437884	1	tier1	-	no_errors	ENST00000264377	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	207437884	G	T	207437884	3	4	1	1	0	0	0	0	1	0	0	0	245	1290	45	3	1772	3	ADAM23	2	207437884	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3389865	207437884	35761489	66	66											
ABCB6	10058	genome.wustl.edu	37	chr2	220078017	220078017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatacggcccttctgaaagCgaaggggccctgctccagga	10	6	12	13	2	1	1	0	1	1	0	2	3	2	2	3	4	3	1	3	4	4	2	rs145498806	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:220078017C>T	ENST00000265316.3	-	12	2067	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	ABCB6_ENST00000439002.2_Missense_Mutation_p.R538H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	584					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCTGAAAGCGAAGGGGCCC	0.522																																																	0								C	HIS/ARG	0,4406		0,0,2203	97	101	100		1751	-7.6	0	2	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCB6	NM_005689.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	584/843	220078017	1,13005	2203	4300	6503	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1751G>A	2.37:g.220078017C>T	ENSP00000265316:p.Arg584His		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R584H	ENST00000265316.3	37	c.1751	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.03|11.03	1.520142|1.520142	0.27211|0.27211	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115657|ENSG00000115657	ENST00000295750|ENST00000265316;ENST00000439002	.|D;D	.|0.90504	.|-2.68;-2.68	4.7|4.7	-7.61|-7.61	0.01299|0.01299	.|.	.|1.339170	.|0.04236	.|N	.|0.336082	D|D	0.83843|0.83843	0.5342|0.5342	L|L	0.35854|0.35854	1.095|1.095	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.70124|0.70124	-0.4958|-0.4958	5|10	.|0.44086	.|T	.|0.13	-1.7478|-1.7478	9.751|9.751	0.40475|0.40475	0.1034:0.6236:0.1051:0.1679|0.1034:0.6236:0.1051:0.1679	.|.	.|538;584	.|Q9NP58-4;Q9NP58	.|.;ABCB6_HUMAN	T|H	432|584;538	.|ENSP00000265316:R584H;ENSP00000394333:R538H	.|ENSP00000265316:R584H	A|R	-|-	1|2	0|0	ABCB6|ABCB6	219786261|219786261	0.001000|0.001000	0.12720|0.12720	0.012000|0.012000	0.15200|0.15200	0.989000|0.989000	0.77384|0.77384	-0.871000|-0.871000	0.04223|0.04223	-1.866000|-1.866000	0.01145|0.01145	-0.320000|-0.320000	0.08662|0.08662	GCT|CGC	ABCB6	-	superfamily_P-loop_NTPase	ENSG00000115657		0.522	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	-	0	42	0	C	NM_005689		220078017	-1	tier1	rs145498806	no_errors	ENST00000265316	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.001	T	T	220078017	C	T	220078017	3	4	1	1	0	0	0	0	1	0	0	0	45	768	27	1	809	1	ABCB6	2	220078017	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	12640133	220078017	23121356	67	67											
ECEL1	9427	genome.wustl.edu	37	chr2	233347591	233347591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacctcctgccgaatcttcTtaactgagagctggatgctg	8	11	9	13	1	2	1	0	1	2	1	3	4	3	2	4	1	4	2	4	1	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:233347591T>G	ENST00000304546.1	-	10	1865	c.1655A>C	c.(1654-1656)aAg>aCg	p.K552T	ECEL1_ENST00000409941.1_Missense_Mutation_p.K552T	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	552					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGAATCTTCTTAACTGAGAG	0.572																																																	0													163	163	163					2																	233347591		2203	4300	6503	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1655A>C	2.37:g.233347591T>G	ENSP00000302051:p.Lys552Thr		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.K552T	ENST00000304546.1	37	c.1655	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058870	0.55325	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.82619	-1.63;-1.63	5.25	5.25	0.73442	.	0.053197	0.64402	D	0.000001	D	0.82949	0.5148	L	0.57536	1.79	0.58432	D	0.999997	P;D	0.57899	0.89;0.981	P;P	0.49637	0.466;0.617	D	0.83803	0.0237	10	0.54805	T	0.06	-0.149	9.6616	0.39958	0.0:0.078:0.0:0.922	.	552;552	O95672-2;O95672	.;ECEL1_HUMAN	T	552	ENSP00000302051:K552T;ENSP00000386333:K552T	ENSP00000302051:K552T	K	-	2	0	ECEL1	233055835	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.434000	0.52841	1.981000	0.57761	0.533000	0.62120	AAG	ECEL1	-	NULL	ENSG00000171551		0.572	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0	50	0	T	NM_004826		233347591	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	G	G	233347591	T	G	233347591	3	3	1	1	0	0	0	0	1	0	0	0	4905	1609	56	4	708	4	ECEL1	2	233347591	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	13269574	233347591	9851782	68	68											
COL6A3	1293	genome.wustl.edu	37	chr2	238280852	238280852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactggatgacagccacccGggtggtgtcaaagcccacgt	10	6	13	12	2	1	1	1	1	0	0	1	3	1	2	3	3	3	0	3	3	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr2:238280852G>A	ENST00000295550.4	-	9	4260	c.3808C>T	c.(3808-3810)Cgg>Tgg	p.R1270W	COL6A3_ENST00000472056.1_Missense_Mutation_p.R663W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1070W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1069W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1064W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1064W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1064W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R863W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1270	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACAGCCACCCGGGTGGTGTCA	0.592																																																	0													49	45	46					2																	238280852		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3808C>T	2.37:g.238280852G>A	ENSP00000295550:p.Arg1270Trp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1270W	ENST00000295550.4	37	c.3808	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808642	0.70797	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	5.73	4.84	0.62591	von Willebrand factor, type A (3);	0.000000	0.49916	D	0.000134	T	0.80460	0.4627	H	0.95224	3.64	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.86389	0.1734	10	0.66056	D	0.02	.	14.9917	0.71393	0.0:0.0:0.7409:0.2591	.	663;863;1064;1064;1270	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	W	1270;1069;1064;663;1064;1070;1064;863	ENSP00000295550:R1270W;ENSP00000315609:R1069W;ENSP00000315873:R1064W;ENSP00000418285:R663W;ENSP00000386844:R1064W;ENSP00000295546:R1070W;ENSP00000375861:R1064W;ENSP00000375860:R863W	ENSP00000295550:R1270W	R	-	1	2	COL6A3	237945591	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	1.058000	0.30504	1.390000	0.46547	0.655000	0.94253	CGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	59	0	G	NM_004369		238280852	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	A	A	238280852	G	A	238280852	3	1	1	1	0	0	0	0	1	0	0	0	3708	1115	39	1	5916	1	COL6A3	2	238280852	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4933261	238280852	4918521	69	69											
CNTN4	152330	genome.wustl.edu	37	chr3	3084090	3084090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagaagaatagaggacGaatacaaggttatgaggtag	17	7	14	3	1	0	4	0	1	0	3	0	7	0	5	0	4	1	2	0	4	8	4	rs183942017	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:3084090G>T	ENST00000397461.1	+	20	2879	c.2495G>T	c.(2494-2496)cGa>cTa	p.R832L	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.R832L|CNTN4_ENST00000397459.2_Missense_Mutation_p.R504L|CNTN4_ENST00000358480.3_Missense_Mutation_p.R613L|CNTN4_ENST00000448906.2_Missense_Mutation_p.R504L|CNTN4_ENST00000427331.1_Missense_Mutation_p.R832L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	832	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATAGAGGACGAATACAAGGT	0.463																																																	0													90	87	88					3																	3084090		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2495G>T	3.37:g.3084090G>T	ENSP00000380602:p.Arg832Leu		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R832L	ENST00000397461.1	37	c.2495	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900378	0.92035	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.61	5.61	0.85477	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.52011	1.625	0.80722	D	1	P;D	0.76494	0.934;0.999	P;D	0.70935	0.834;0.971	T	0.66019	-0.6027	10	0.46703	T	0.11	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	831;832	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	L	832;832;832;613;504;504	ENSP00000396010:R832L;ENSP00000380602:R832L;ENSP00000413642:R832L;ENSP00000351267:R613L;ENSP00000380600:R504L;ENSP00000392077:R504L	ENSP00000351267:R613L	R	+	2	0	CNTN4	3059090	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.578000	0.90777	2.793000	0.96121	0.655000	0.94253	CGA	CNTN4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.463	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0	44	0	G			3084090	1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	T	T	3084090	G	T	3084090	3	4	1	1	0	0	0	0	1	0	0	0	3650	1058	37	2	2565	2	CNTN4	3	3084090	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		3084090	194938340	70	70											
IL5RA	3568	genome.wustl.edu	37	chr3	3137074	3137074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttctcccattggataGagagacgagttccttcaatc	9	13	9	10	1	2	2	1	0	1	2	5	5	3	3	2	2	0	2	2	2	2	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:3137074G>T	ENST00000446632.2	-	8	1338	c.764C>A	c.(763-765)tCt>tAt	p.S255Y	IL5RA_ENST00000456302.1_Missense_Mutation_p.S255Y|IL5RA_ENST00000430514.2_Missense_Mutation_p.S255Y|IL5RA_ENST00000311981.8_Missense_Mutation_p.S255Y|IL5RA_ENST00000418488.2_Intron|IL5RA_ENST00000438560.1_Missense_Mutation_p.S255Y|IL5RA_ENST00000383846.1_Missense_Mutation_p.S255Y|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000256452.3_Missense_Mutation_p.S255Y	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	255	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCATTGGATAGAGAGACGAGT	0.353																																					GBM(169;430 2801 24955 28528)												0													102	100	100					3																	3137074		2203	4300	6503	SO:0001583	missense	0			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.764C>A	3.37:g.3137074G>T	ENSP00000412209:p.Ser255Tyr		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.S255Y	ENST00000446632.2	37	c.764	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.593624	0.00864	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.0	-3.65	0.04502	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.980516	0.08360	N	0.957829	T	0.66694	0.2815	L	0.33245	0.995	0.09310	N	1	B;B;B;B	0.09022	0.002;0.001;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.56117	-0.8032	10	0.02654	T	1	-4.411	0.6665	0.00851	0.2819:0.1096:0.26:0.3484	.	255;255;255;255	B4E2G0;Q01344-3;Q01344-2;Q01344	.;.;.;IL5RA_HUMAN	Y	255	ENSP00000412209:S255Y;ENSP00000390753:S255Y;ENSP00000256452:S255Y;ENSP00000373358:S255Y;ENSP00000309196:S255Y;ENSP00000400400:S255Y;ENSP00000392059:S255Y	ENSP00000256452:S255Y	S	-	2	0	IL5RA	3112074	0.002000	0.14202	0.001000	0.08648	0.693000	0.40251	0.183000	0.16919	-0.430000	0.07318	-0.137000	0.14449	TCT	IL5RA	-	superfamily_Fibronectin_type3	ENSG00000091181		0.353	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	-	0	55	0	G			3137074	-1	tier1	-	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	3137074	G	T	3137074	3	4	1	1	0	0	0	0	1	0	0	0	7727	942	33	3	544	3	IL5RA	3	3137074	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	52984	3137074	194885356	71	71											
ITPR1	3708	genome.wustl.edu	37	chr3	4744601	4744601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagccaaaaagcctccGtggagagctgtattcgggtg	10	8	13	10	2	0	1	0	0	0	1	2	2	1	1	4	2	4	2	4	2	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:4744601G>A	ENST00000443694.2	+	33	4579	c.4579G>A	c.(4579-4581)Gtg>Atg	p.V1527M	ITPR1_ENST00000423119.2_Missense_Mutation_p.V1533M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V1542M|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1527M|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1533M|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1518M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1542					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAAAGCCTCCGTGGAGAGCTG	0.483																																																	0													79	83	82					3																	4744601		1900	4124	6024	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4579G>A	3.37:g.4744601G>A	ENSP00000401671:p.Val1527Met		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.V1527M	ENST00000443694.2	37	c.4579	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887893	0.91814	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	M	0.88842	2.985	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.66351	0.741;0.943	D	0.87634	0.2518	10	0.72032	D	0.01	.	18.4579	0.90728	0.0:0.0:1.0:0.0	.	1542;1533	Q14643;G5E9P1	ITPR1_HUMAN;.	M	1542;1527;1542;1533;1533;1518;1527	ENSP00000306253:V1527M;ENSP00000346595:V1542M;ENSP00000405934:V1533M;ENSP00000349597:V1533M;ENSP00000397885:V1518M;ENSP00000401671:V1527M	ENSP00000306253:V1527M	V	+	1	0	ITPR1	4719601	1.000000	0.71417	0.936000	0.37596	0.977000	0.68977	9.768000	0.98965	2.341000	0.79615	0.563000	0.77884	GTG	ITPR1	-	NULL	ENSG00000150995		0.483	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0	37	0	G	NM_002222		4744601	1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	A	A	4744601	G	A	4744601	3	1	1	1	0	0	0	0	1	0	0	0	7947	1145	40	1	4758	1	ITPR1	3	4744601	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1607527	4744601	193277829	72	72											
STAC	6769	genome.wustl.edu	37	chr3	36526484	36526484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccaaaggggtttcggCgttactacagctcccccttg	7	10	10	14	2	0	0	0	0	0	0	3	0	2	0	4	3	4	3	4	3	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:36526484C>T	ENST00000273183.3	+	4	805	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	169					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GGGGTTTCGGCGTTACTACAG	0.453																																																	0													167	146	153					3																	36526484		2203	4300	6503	SO:0001583	missense	0			D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"src homology three (SH3) and cysteine rich domain"			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.505C>T	3.37:g.36526484C>T	ENSP00000273183:p.Arg169Cys		B2R8S8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R169C	ENST00000273183.3	37	c.505	CCDS2662.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467529	0.84533	.	.	ENSG00000144681	ENST00000273183;ENST00000544687	D	0.82619	-1.63	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90635	0.7063	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90835	0.4719	10	0.87932	D	0	.	18.9159	0.92506	0.0:1.0:0.0:0.0	.	169	Q99469	STAC_HUMAN	C	169;101	ENSP00000273183:R169C	ENSP00000273183:R169C	R	+	1	0	STAC	36501488	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.259000	0.58828	2.840000	0.97914	0.655000	0.94253	CGT	STAC	-	NULL	ENSG00000144681		0.453	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC	HGNC	protein_coding	OTTHUMT00000253338.2	-	0	73	0	C	NM_003149		36526484	1	tier1	-	no_errors	ENST00000273183	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	T	T	36526484	C	T	36526484	3	4	1	1	0	0	0	0	1	0	0	0	15286	768	27	1	519	1	STAC	3	36526484	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	31781883	36526484	161495946	73	73											
TRANK1	9881	genome.wustl.edu	37	chr3	36898232	36898232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcctccacatagcagCgaggtatacgcttttgaatt	9	13	9	10	2	0	1	0	1	0	0	2	2	2	1	2	1	3	3	2	1	4	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:36898232C>T	ENST00000429976.2	-	12	3096	c.2849G>A	c.(2848-2850)cGc>cAc	p.R950H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R400H|TRANK1_ENST00000301807.6_Missense_Mutation_p.R400H	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	950							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACATAGCAGCGAGGTATACG	0.502																																																	0													199	196	197					3																	36898232		2069	4216	6285	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.2849G>A	3.37:g.36898232C>T	ENSP00000416168:p.Arg950His		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R950H	ENST00000429976.2	37	c.2849	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591933	0.66219	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35973	1.28;1.7;1.28	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000005	T	0.48040	0.1478	L	0.32530	0.975	0.48632	D	0.999681	D	0.89917	1.0	D	0.68621	0.959	T	0.41910	-0.9482	10	0.59425	D	0.04	.	14.5815	0.68295	0.1461:0.8539:0.0:0.0	.	950	O15050	TRNK1_HUMAN	H	400;950;400	ENSP00000416826:R400H;ENSP00000416168:R950H;ENSP00000301807:R400H	ENSP00000301807:R400H	R	-	2	0	TRANK1	36873236	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.098000	0.41757	2.759000	0.94783	0.549000	0.68633	CGC	TRANK1	-	NULL	ENSG00000168016		0.502	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	31	0	C	NM_014831		36898232	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T	T	36898232	C	T	36898232	3	4	1	1	0	0	0	0	1	0	0	0	16502	768	27	1	5976	1	TRANK1	3	36898232	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	371748	36898232	161124198	74	74											
PLXNB1	5364	genome.wustl.edu	37	chr3	48465462	48465462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggcggccacagggcccGggttgtgatgggtggaatgc	5	7	20	9	3	0	1	0	1	0	0	1	2	0	2	2	6	1	1	2	6	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:48465462G>A	ENST00000358536.4	-	3	828	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	PLXNB1_ENST00000456774.1_Missense_Mutation_p.R187W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R187W|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R187W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	187	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGGGCCCGGGTTGTGATG	0.672																																																	0													10	13	12					3																	48465462		2197	4287	6484	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.559C>T	3.37:g.48465462G>A	ENSP00000351338:p.Arg187Trp		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R187W	ENST00000358536.4	37	c.559	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723760	0.68959	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.26	4.26	0.50523	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	7.973270	0.00986	N	0.003447	D	0.83986	0.5373	M	0.90542	3.125	0.80722	D	1	D;B	0.89917	1.0;0.077	D;B	0.91635	0.999;0.014	T	0.68473	-0.5399	10	0.87932	D	0	.	15.6685	0.77255	0.0:0.0:1.0:0.0	.	187;187	O43157;O43157-2	PLXB1_HUMAN;.	W	187	ENSP00000296440:R187W;ENSP00000351242:R187W;ENSP00000351338:R187W;ENSP00000414199:R187W	ENSP00000296440:R187W	R	-	1	2	PLXNB1	48440466	1.000000	0.71417	0.984000	0.44739	0.777000	0.43975	7.934000	0.87649	1.916000	0.55485	0.591000	0.81541	CGG	PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.672	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0	27	0	G	NM_002673		48465462	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	65.00	7	13	SNP	1.000	A	A	48465462	G	A	48465462	3	1	1	1	0	0	0	0	1	0	0	0	12162	1115	39	1	5992	1	PLXNB1	3	48465462	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	11567230	48465462	149556968	75	75											
USP4	7375	genome.wustl.edu	37	chr3	49331951	49331951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcggaggaagtgcttgatGgcctggacttcctctccctg	6	11	13	11	1	1	1	0	1	1	0	3	4	2	4	3	4	2	1	3	4	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:49331951G>T	ENST00000265560.4	-	14	1818	c.1772C>A	c.(1771-1773)cCa>cAa	p.P591Q	USP4_ENST00000351842.4_Missense_Mutation_p.P544Q	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	591	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTGCTTGATGGCCTGGACTT	0.527																																																	0													159	126	137					3																	49331951		2203	4300	6503	SO:0001583	missense	0			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"Ubiquitin-specific peptidases"	12627	protein-coding gene	gene with protein product		603486	"ubiquitin specific protease 4 (proto-oncogene)"	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.1772C>A	3.37:g.49331951G>T	ENSP00000265560:p.Pro591Gln		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.P591Q	ENST00000265560.4	37	c.1772	CCDS2793.1	3	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485493	0.26686	.	.	ENSG00000114316	ENST00000351842;ENST00000265560	T;T	0.20332	2.08;2.21	5.73	4.78	0.61160	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.310592	0.39985	N	0.001208	T	0.04770	0.0129	N	0.00289	-1.7	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.002;0.004;0.004	T	0.39057	-0.9632	10	0.11794	T	0.64	-7.5739	10.9148	0.47129	0.0:0.0:0.6551:0.3449	.	544;591;591	Q13107-2;Q13107;Q08AK7	.;UBP4_HUMAN;.	Q	544;591	ENSP00000341028:P544Q;ENSP00000265560:P591Q	ENSP00000265560:P591Q	P	-	2	0	USP4	49306955	1.000000	0.71417	0.842000	0.33263	0.752000	0.42762	3.542000	0.53625	2.710000	0.92621	0.650000	0.86243	CCA	USP4	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000114316		0.527	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	-	0	61	0	G	NM_199443		49331951	-1	tier1	-	no_errors	ENST00000265560	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.958	T	T	49331951	G	T	49331951	3	4	1	1	0	0	0	0	1	0	0	0	17120	1348	47	3	1155	3	USP4	3	49331951	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	866489	49331951	148690479	76	76											
DOCK3	1795	genome.wustl.edu	37	chr3	51395429	51395429	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggctagcagttcatgagaAgtttgtgcacccagaaatgc	11	10	12	8	0	1	2	1	1	0	2	1	3	1	2	1	1	3	5	1	1	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:51395429A>C	ENST00000266037.9	+	46	4828	c.4805A>C	c.(4804-4806)aAg>aCg	p.K1602T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1602	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTTCATGAGAAGTTTGTGCAC	0.493																																																	0													167	169	168					3																	51395429		2016	4166	6182	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4805A>C	3.37:g.51395429A>C	ENSP00000266037:p.Lys1602Thr		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.K1602T	ENST00000266037.9	37	c.4805	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912750	0.72983	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.18960	2.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.45352	1.415	0.49213	D	0.999764	D	0.64830	0.994	D	0.66979	0.948	T	0.03374	-1.1043	10	0.30854	T	0.27	.	10.0285	0.42085	0.9249:0.0:0.0751:0.0	.	1602	Q8IZD9	DOCK3_HUMAN	T	1602;398	ENSP00000266037:K1602T	ENSP00000266037:K1602T	K	+	2	0	DOCK3	51370469	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.425000	0.73370	2.091000	0.63221	0.454000	0.30748	AAG	DOCK3	-	pfam_DOCK_C	ENSG00000088538		0.493	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	64	0	A	NM_004947		51395429	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	C	C	51395429	A	C	51395429	3	2	1	1	0	0	0	0	1	0	0	0	4702	72	3	4	4987	4	DOCK3	3	51395429	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	2063478	51395429	146627001	77	77											
PXK	54899	genome.wustl.edu	37	chr3	58385044	58385044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggccgtgttggagtctaCgctgtcttgtgaagcctgta	6	13	14	8	2	2	1	0	1	2	0	2	2	2	2	2	2	2	3	2	2	3	4	rs375086738		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:58385044C>T	ENST00000356151.2	+	12	1230	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	PXK_ENST00000302779.5_Missense_Mutation_p.T357M|PXK_ENST00000484288.1_Missense_Mutation_p.T374M|PXK_ENST00000536660.1_Missense_Mutation_p.T237M|PXK_ENST00000463280.1_Missense_Mutation_p.T341M|PXK_ENST00000479241.1_Missense_Mutation_p.T357M|PXK_ENST00000383716.3_Missense_Mutation_p.T341M|PXK_ENST00000383715.4_Missense_Mutation_p.T357M	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TTGGAGTCTACGCTGTCTTGT	0.428																																																	0								C	MET/THR	0,4406		0,0,2203	197	165	176		1121	4.8	1	3		176	1,8599	1.2+/-3.3	0,1,4299	no	missense	PXK	NM_017771.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	374/579	58385044	1,13005	2203	4300	6503	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1121C>T	3.37:g.58385044C>T	ENSP00000348472:p.Thr374Met			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom	p.T374M	ENST00000356151.2	37	c.1121	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.998723|3.998723	0.74818|0.74818	0.0|0.0	1.16E-4|1.16E-4	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.30981	.|2.28;2.27;2.27;1.53;1.53;1.53;1.51;2.27	5.87|5.87	4.78|4.78	0.61160|0.61160	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.129865	.|0.64402	.|D	.|0.000003	T|T	0.19644|0.19644	0.0472|0.0472	N|N	0.08118|0.08118	0|0	0.36692|0.36692	D|D	0.879648|0.879648	.|D;P;D;P;P;P	.|0.56746	.|0.96;0.895;0.977;0.932;0.895;0.938	.|B;B;P;P;B;B	.|0.50270	.|0.438;0.216;0.636;0.517;0.308;0.308	T|T	0.06285|0.06285	-1.0835|-1.0835	5|10	.|0.72032	.|D	.|0.01	-14.2952|-14.2952	4.4051|4.4051	0.11406|0.11406	0.0:0.7087:0.0:0.2913|0.0:0.7087:0.0:0.2913	.|.	.|341;341;341;374;357;374	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	C|M	129|374;357;341;341;357;374;357;237;237	.|ENSP00000348472:T374M;ENSP00000305045:T357M;ENSP00000373222:T341M;ENSP00000417903:T341M;ENSP00000373221:T357M;ENSP00000417915:T374M;ENSP00000419049:T357M;ENSP00000438356:T237M	.|ENSP00000305045:T357M	R|T	+|+	1|2	0|0	PXK|PXK	58360084|58360084	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.821000|4.821000	0.62679|0.62679	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGC|ACG	PXK	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000168297		0.428	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	-	0	86	0	C	NM_017771		58385044	1	tier1	-	no_errors	ENST00000356151	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	58385044	C	T	58385044	3	4	1	1	0	0	0	0	1	0	0	0	12894	536	19	1	1167	1	PXK	3	58385044	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6989615	58385044	139637386	78	78											
CNTN3	5067	genome.wustl.edu	37	chr3	74411155	74411155	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacctgcacctgaaccaacTtcttcattggattctttgaa	10	13	5	13	0	3	2	1	2	2	0	3	3	3	3	4	1	3	1	4	1	3	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:74411155T>G	ENST00000263665.6	-	10	1277	c.1250A>C	c.(1249-1251)aAg>aCg	p.K417T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	417	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGAACCAACTTCTTCATTGG	0.473																																																	0													64	69	67					3																	74411155		2203	4300	6503	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1250A>C	3.37:g.74411155T>G	ENSP00000263665:p.Lys417Thr		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K417T	ENST00000263665.6	37	c.1250	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678446	0.47886	.	.	ENSG00000113805	ENST00000263665	T	0.69561	-0.41	5.71	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.239916	0.42964	D	0.000635	T	0.56062	0.1960	L	0.41961	1.31	0.29403	N	0.861774	B	0.14438	0.01	B	0.22152	0.038	T	0.51419	-0.8708	10	0.33141	T	0.24	.	9.0758	0.36519	0.0:0.1443:0.0:0.8557	.	417	Q9P232	CNTN3_HUMAN	T	417	ENSP00000263665:K417T	ENSP00000263665:K417T	K	-	2	0	CNTN3	74493845	0.893000	0.30496	0.817000	0.32601	0.989000	0.77384	1.790000	0.38734	2.178000	0.69098	0.482000	0.46254	AAG	CNTN3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000113805		0.473	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	37	0	T	NM_020872		74411155	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.703	G	G	74411155	T	G	74411155	3	3	1	1	0	0	0	0	1	0	0	0	3649	1609	56	4	1888	4	CNTN3	3	74411155	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	16026111	74411155	123611275	79	79											
ROBO2	6092	genome.wustl.edu	37	chr3	77595601	77595601	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagctgttttttggcagaaAgaaggcagccaggtgagtgt	10	10	14	7	0	0	3	0	1	0	2	0	3	0	3	2	3	2	4	2	3	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:77595601A>G	ENST00000461745.1	+	7	1947	c.1047A>G	c.(1045-1047)aaA>aaG	p.K349K	ROBO2_ENST00000332191.8_Silent_p.K349K|ROBO2_ENST00000487694.3_Silent_p.K365K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	349	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTTGGCAGAAAGAAGGCAGCC	0.473																																																	0													184	181	182					3																	77595601		1896	4139	6035	SO:0001819	synonymous_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1047A>G	3.37:g.77595601A>G			O43608|Q19AB4|Q19AB5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K349	ENST00000461745.1	37	c.1047	CCDS43109.1	3																																																																																			ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000185008		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	64	0	A	XM_031246		77595601	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	silent	17.02	39	8	SNP	1.000	G	G	77595601	A	G	77595601	2	3	1	1	0	0	0	0	0	0	0	1	13559	69	3	4		4	ROBO2	3	77595601	Silent	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	3184446	77595601	120426829	80	80											
ROBO1	6091	genome.wustl.edu	37	chr3	78680429	78680429	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggtaccttgggtgttcTtgcccctttcttgtgcccct	1	19	9	12	0	2	0	0	0	2	0	2	0	2	0	5	2	3	2	5	2	1	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:78680429T>A	ENST00000464233.1	-	25	3621	c.3508A>T	c.(3508-3510)Aga>Tga	p.R1170*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.R1070*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.R1125*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.R1131*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1170					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGGGTGTTCTTGCCCCTTTC	0.463																																																	0													161	159	160					3																	78680429		2056	4190	6246	SO:0001587	stop_gained	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3508A>T	3.37:g.78680429T>A	ENSP00000420321:p.Arg1170*		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1170*	ENST00000464233.1	37	c.3508	CCDS54611.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	43|43	10.002625|10.002625	0.99314|0.99314	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000472273|ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.|.	.|.	.|.	5.37|5.37	1.18|1.18	0.20946|0.20946	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.65059|.	0.2655|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.69862|.	-0.5030|.	3|.	.|.	.|.	.|.	.|.	16.2368|16.2368	0.82380|0.82380	0.0:0.0:0.3839:0.6161|0.0:0.0:0.3839:0.6161	.|.	.|.	.|.	.|.	H|X	96|1131;1125;1170;1125;1070;1174	.|.	.|.	Q|R	-|-	3|1	2|2	ROBO1|ROBO1	78763119|78763119	1.000000|1.000000	0.71417|0.71417	0.772000|0.772000	0.31596|0.31596	0.928000|0.928000	0.56348|0.56348	1.832000|1.832000	0.39151|0.39151	-0.011000|-0.011000	0.14247|0.14247	-0.219000|-0.219000	0.12488|0.12488	CAA|AGA	ROBO1	-	NULL	ENSG00000169855		0.463	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	110	0	T	NM_002941		78680429	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	nonsense	19.05	68	16	SNP	0.963	A	A	78680429	T	A	78680429	4	1	1	1	0	0	0	0	0	1	0	0	13558	1617	56	5	1475	5	ROBO1	3	78680429	Nonsense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	1084828	78680429	119342001	81	81											
FSTL1	11167	genome.wustl.edu	37	chr3	120121725	120121725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttacagtccacctcggtCtcagctccatctgcatacgt	7	11	8	15	3	2	0	1	0	2	0	6	0	4	0	3	2	4	3	3	2	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:120121725C>A	ENST00000295633.3	-	9	1091	c.735G>T	c.(733-735)gaG>gaT	p.E245D	FSTL1_ENST00000424703.2_Missense_Mutation_p.E210D	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	245	VWFC.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CCACCTCGGTCTCAGCTCCAT	0.522																																																	0													203	167	180					3																	120121725		2203	4300	6503	SO:0001583	missense	0			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.735G>T	3.37:g.120121725C>A	ENSP00000295633:p.Glu245Asp		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.E245D	ENST00000295633.3	37	c.735	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128892	0.77549	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.65732	-0.17;-0.17	5.67	4.81	0.61882	.	0.043525	0.85682	D	0.000000	T	0.73102	0.3544	M	0.72894	2.215	0.58432	D	0.999995	D;P	0.54772	0.968;0.929	P;P	0.56278	0.795;0.684	T	0.75645	-0.3246	10	0.51188	T	0.08	-26.1169	14.2691	0.66140	0.0:0.9285:0.0:0.0715	.	210;245	B4DTT5;Q12841	.;FSTL1_HUMAN	D	245;188;210	ENSP00000295633:E245D;ENSP00000394355:E210D	ENSP00000295633:E245D	E	-	3	2	FSTL1	121604415	1.000000	0.71417	0.997000	0.53966	0.543000	0.35085	3.682000	0.54656	1.543000	0.49345	-0.137000	0.14449	GAG	FSTL1	-	NULL	ENSG00000163430		0.522	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	-	0	52	0	C	NM_007085		120121725	-1	tier1	-	no_errors	ENST00000295633	ensembl	human	known	74_37	missense	25.00	42	14	SNP	1.000	A	A	120121725	C	A	120121725	3	1	1	1	0	0	0	0	1	0	0	0	6101	912	32	3	203	3	FSTL1	3	120121725	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	41441296	120121725	77900705	82	82											
PARP9	83666	genome.wustl.edu	37	chr3	122259595	122259595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggattctttggatccatgCgtgggcctcatacatctctt	7	14	9	11	1	3	0	1	0	2	0	5	2	4	2	2	3	2	0	2	3	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:122259595C>T	ENST00000360356.2	-	8	1821	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	PARP9_ENST00000462315.1_Missense_Mutation_p.A497T|PARP9_ENST00000471785.1_Missense_Mutation_p.A497T|PARP9_ENST00000492382.1_Missense_Mutation_p.A77T|PARP9_ENST00000477522.2_Missense_Mutation_p.A497T	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	532					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A532T(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TGGATCCATGCGTGGGCCTCA	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											145	144	145					3																	122259595		2203	4300	6503	SO:0001583	missense	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1594G>A	3.37:g.122259595C>T	ENSP00000353512:p.Ala532Thr		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.A532T	ENST00000360356.2	37	c.1594	CCDS3014.1	3	.	.	.	.	.	.	.	.	.	.	C	6.757	0.508467	0.12883	.	.	ENSG00000138496	ENST00000360356;ENST00000492382;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T;T	0.17370	3.28;2.95;3.14;3.14;2.28	4.83	2.84	0.33178	.	1.026890	0.07743	N	0.947175	T	0.14356	0.0347	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.25235	0.012;0.021;0.121;0.01	B;B;B;B	0.16722	0.004;0.004;0.016;0.004	T	0.35051	-0.9804	10	0.17369	T	0.5	.	5.0882	0.14694	0.0:0.6659:0.2174:0.1167	.	497;532;77;497	E9PFM7;Q8IXQ6;G5E9U8;Q8IXQ6-2	.;PARP9_HUMAN;.;.	T	532;77;497;497;455;497	ENSP00000353512:A532T;ENSP00000417664:A77T;ENSP00000419506:A497T;ENSP00000419001:A497T;ENSP00000418894:A497T	ENSP00000353512:A532T	A	-	1	0	PARP9	123742285	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.109000	0.15417	1.231000	0.43661	0.650000	0.86243	GCA	PARP9	-	NULL	ENSG00000138496		0.448	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1		0	22	0	C	NM_031458		122259595	-1			no_errors	ENST00000360356	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.001	T	T	122259595	C	T	122259595	3	4	1	1	0	0	0	0	1	0	0	0	11505	768	27	1	1039	1	PARP9	3	122259595	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	2137870	122259595	75762835	83	83											
AMOTL2	51421	genome.wustl.edu	37	chr3	134079102	134079102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaactgcctcatggcacGttcctccaaatacttctgct	9	11	7	14	1	2	0	1	0	1	0	4	0	4	0	3	2	4	4	3	2	3	3	rs145301642		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134079102G>A	ENST00000422605.2	-	7	1895	c.1729C>T	c.(1729-1731)Cgt>Tgt	p.R577C	AMOTL2_ENST00000513145.1_Missense_Mutation_p.R575C|AMOTL2_ENST00000514516.1_Missense_Mutation_p.R635C|AMOTL2_ENST00000249883.5_Missense_Mutation_p.R577C			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	577					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CTCATGGCACGTTCCTCCAAA	0.612																																																	0													134	94	107					3																	134079102		2203	4300	6503	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1729C>T	3.37:g.134079102G>A	ENSP00000409999:p.Arg577Cys		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R577C	ENST00000422605.2	37	c.1729		3	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482490	0.44147	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.17213	2.29;2.29;2.29;2.3	5.23	4.23	0.50019	.	0.150494	0.64402	D	0.000011	T	0.06962	0.0177	N	0.03115	-0.41	0.58432	D	0.999999	B;B;B	0.19583	0.011;0.011;0.037	B;B;B	0.17979	0.007;0.007;0.02	T	0.17623	-1.0363	10	0.46703	T	0.11	-11.2662	6.2102	0.20626	0.2265:0.0:0.7735:0.0	.	575;577;635	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	C	577;577;635;575	ENSP00000249883:R577C;ENSP00000409999:R577C;ENSP00000424765:R635C;ENSP00000425475:R575C	ENSP00000249883:R577C	R	-	1	0	AMOTL2	135561792	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	3.407000	0.52644	2.417000	0.82017	0.561000	0.74099	CGT	AMOTL2	-	pfam_Angiomotin_C	ENSG00000114019		0.612	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	-	0	71	0	G	NM_016201		134079102	-1	tier1	-	no_errors	ENST00000249883	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	A	A	134079102	G	A	134079102	3	1	1	1	0	0	0	0	1	0	0	0	584	1145	40	1	629	1	AMOTL2	3	134079102	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	11819507	134079102	63943328	84	84											
KY	339855	genome.wustl.edu	37	chr3	134322603	134322603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggactttggcaataccatGcagcttcaatttgaatggga	12	11	10	8	0	1	1	1	1	0	0	1	3	1	3	1	3	3	3	1	3	4	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134322603G>A	ENST00000423778.2	-	11	1865	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	KY_ENST00000508956.1_Missense_Mutation_p.H581Y|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	0					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCAATACCATGCAGCTTCAAT	0.577																																																	0													64	62	63					3																	134322603		1987	4168	6155	SO:0001583	missense	0			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1804C>T	3.37:g.134322603G>A	ENSP00000397598:p.His602Tyr		B7Z1S4|Q6ZT15	Missense_Mutation	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.H602Y	ENST00000423778.2	37	c.1804	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155902	0.57259	.	.	ENSG00000174611	ENST00000508956;ENST00000423778	T;T	0.25085	1.82;1.82	5.84	4.95	0.65309	.	.	.	.	.	T	0.38878	0.1057	.	.	.	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.52957	0.714;0.714	T	0.18745	-1.0327	8	0.45353	T	0.12	.	13.8769	0.63657	0.0:0.0:0.7226:0.2774	.	581;602	Q8NBH2-3;Q8NBH2-4	.;.	Y	581;602	ENSP00000421297:H581Y;ENSP00000397598:H602Y	ENSP00000397598:H602Y	H	-	1	0	KY	135805293	0.998000	0.40836	0.981000	0.43875	0.970000	0.65996	5.302000	0.65733	1.435000	0.47434	0.561000	0.74099	CAT	KY	-	NULL	ENSG00000174611		0.577	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	-	0	58	0	G	NM_178554		134322603	-1	tier1	-	no_errors	ENST00000423778	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.843	A	A	134322603	G	A	134322603	3	1	1	1	0	0	0	0	1	0	0	0	8614	1319	46	3	185	3	KY	3	134322603	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	243501	134322603	63699827	85	85											
EPHB1	2047	genome.wustl.edu	37	chr3	134825426	134825426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgagcggactttgacccTccagaagtggcatgcactag	10	8	11	12	2	0	2	0	1	0	1	1	4	1	3	3	2	3	2	3	2	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134825426T>C	ENST00000398015.3	+	4	1312	c.942T>C	c.(940-942)ccT>ccC	p.P314P	EPHB1_ENST00000493838.1_5'UTR|EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	314	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACTTTGACCCTCCAGAAGTGG	0.587																																																	0													50	51	51					3																	134825426		1935	4145	6080	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.942T>C	3.37:g.134825426T>C			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P314	ENST00000398015.3	37	c.942	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000154928		0.587	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	49	0	T	NM_004441		134825426	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	28.57	35	14	SNP	0.006	C	C	134825426	T	C	134825426	2	2	1	1	0	0	0	0	0	0	0	1	5190	1538	54	4		4	EPHB1	3	134825426	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	502823	134825426	63197004	86	86											
EPHB1	2047	genome.wustl.edu	37	chr3	134851749	134851749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtgcccaggcagctgggCctgacggagtgccgcgtctc	4	9	15	13	3	1	1	0	1	1	0	2	2	1	2	3	3	3	2	3	3	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:134851749C>T	ENST00000398015.3	+	5	1525	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	385	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGCTGGGCCTGACGGAGT	0.597																																																	0													42	48	46					3																	134851749		2198	4295	6493	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1155C>T	3.37:g.134851749C>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G385	ENST00000398015.3	37	c.1155	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.597	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	29	0	C	NM_004441		134851749	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	56.67	13	17	SNP	0.997	T	T	134851749	C	T	134851749	2	4	1	1	0	0	0	0	0	0	0	1	5190	726	26	3		3	EPHB1	3	134851749	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	26323	134851749	63170681	87	87											
PPP2R3A	5523	genome.wustl.edu	37	chr3	135721110	135721110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacaatgcataaagaaaaAatcagggagtagcatcagtg	21	6	9	5	0	2	1	2	0	0	1	2	2	2	2	0	1	3	3	0	1	9	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:135721110A>G	ENST00000264977.3	+	2	1387	c.770A>G	c.(769-771)aAa>aGa	p.K257R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	257					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATAAAGAAAAAATCAGGGAGT	0.358																																																	0													57	59	58					3																	135721110		2203	4299	6502	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.770A>G	3.37:g.135721110A>G	ENSP00000264977:p.Lys257Arg		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.K257R	ENST00000264977.3	37	c.770	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	A	11.60	1.686509	0.29962	.	.	ENSG00000073711	ENST00000264977	T	0.16597	2.33	5.34	5.34	0.76211	.	0.051627	0.85682	D	0.000000	T	0.13329	0.0323	L	0.41710	1.295	0.80722	D	1	P	0.42409	0.779	B	0.37480	0.251	T	0.04991	-1.0913	10	0.35671	T	0.21	.	9.0822	0.36558	0.9182:0.0:0.0818:0.0	.	257	Q06190	P2R3A_HUMAN	R	257	ENSP00000264977:K257R	ENSP00000264977:K257R	K	+	2	0	PPP2R3A	137203800	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.214000	0.77958	2.010000	0.58986	0.533000	0.62120	AAA	PPP2R3A	-	NULL	ENSG00000073711		0.358	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	-	0	21	0	A	NM_002718		135721110	1	tier1	-	no_errors	ENST00000264977	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	G	G	135721110	A	G	135721110	3	3	1	1	0	0	0	0	1	0	0	0	12430	14	1	4	772	4	PPP2R3A	3	135721110	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	869361	135721110	62301320	88	88											
SOX14	8403	genome.wustl.edu	37	chr3	137484171	137484171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcggcagcctcagctGccccagccagcacacgcaca	8	4	9	20	3	1	0	1	0	0	0	2	0	1	0	5	1	5	4	5	1	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:137484171G>T	ENST00000306087.1	+	1	593	c.545G>T	c.(544-546)tGc>tTc	p.C182F		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	182					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						AGCCTCAGCTGCCCCAGCCAG	0.682																																																	0													15	13	14					3																	137484171		2190	4279	6469	SO:0001583	missense	0			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.545G>T	3.37:g.137484171G>T	ENSP00000305343:p.Cys182Phe		B2RAC0|Q3KPH7	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.C182F	ENST00000306087.1	37	c.545	CCDS3094.1	3	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913617	0.33815	.	.	ENSG00000168875	ENST00000306087	D	0.96168	-3.93	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	L	0.36672	1.1	0.80722	D	1	P	0.39424	0.673	B	0.38458	0.274	D	0.90359	0.4372	10	0.10377	T	0.69	.	17.8201	0.88648	0.0:0.0:1.0:0.0	.	182	O95416	SOX14_HUMAN	F	182	ENSP00000305343:C182F	ENSP00000305343:C182F	C	+	2	0	SOX14	138966861	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	6.341000	0.72977	2.449000	0.82847	0.511000	0.50034	TGC	SOX14	-	NULL	ENSG00000168875		0.682	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	HGNC	protein_coding	OTTHUMT00000357182.1		0	21	0	G	NM_004189		137484171	1			no_errors	ENST00000306087	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T	T	137484171	G	T	137484171	3	4	1	1	0	0	0	0	1	0	0	0	14990	1319	46	3	547	3	SOX14	3	137484171	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1763061	137484171	60538259	89	89											
TXNDC6	25852	genome.wustl.edu	37	chr3	137981408	137981408	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtcagtgatcttcaaccTtggctgtgtactggactcac	8	13	10	10	0	4	1	3	1	1	0	4	2	4	2	1	3	2	2	1	3	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:137981408T>C	ENST00000469044.1	+	13	1405				ARMC8_ENST00000461822.1_Intron|ARMC8_ENST00000491704.1_Intron|ARMC8_ENST00000393058.3_Intron|ARMC8_ENST00000538260.1_Intron|ARMC8_ENST00000485396.1_Intron|NME9_ENST00000484930.1_Missense_Mutation_p.R254G|NME9_ENST00000341790.5_Missense_Mutation_p.R254G|NME9_ENST00000317876.4_Missense_Mutation_p.R256G|NME9_ENST00000383180.2_Missense_Mutation_p.R256G|NME9_ENST00000536478.1_Missense_Mutation_p.R256G|ARMC8_ENST00000481646.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8											endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						atcttcaaccttggctgtgta	0.403																																																	0													111	102	105					3																	137981408		2203	4300	6503	SO:0001627	intron_variant	0				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1135-1173T>C	3.37:g.137981408T>C			A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase	p.R256G	ENST00000469044.1	37	c.766		3	.	.	.	.	.	.	.	.	.	.	T	8.291	0.817755	0.16607	.	.	ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	3.07	0.535	0.17133	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.09310	N	1	B;B	0.22146	0.065;0.065	B;B	0.22152	0.038;0.038	T	0.26950	-1.0088	8	0.52906	T	0.07	.	5.7181	0.17972	0.4426:0.0:0.0:0.5574	.	254;256	Q86XW9-3;Q86XW9-2	.;.	G	256;256;254;254;256	ENSP00000372667:R256G;ENSP00000321929:R256G;ENSP00000419882:R254G;ENSP00000341084:R254G;ENSP00000440143:R256G	ENSP00000321929:R256G	R	-	1	2	TXNDC6	139464098	0.002000	0.14202	0.001000	0.08648	0.383000	0.30230	0.332000	0.19751	0.100000	0.17581	0.528000	0.53228	AGG	NME9	-	NULL	ENSG00000181322		0.403	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	NME9	HGNC	protein_coding	OTTHUMT00000357560.1	-	0	61	0	T	NM_015396		137981408	-1	tier1	-	no_errors	ENST00000317876	ensembl	human	known	74_37	missense	54.55	20	24	SNP	0.001	C	C	137981408	T	C	137981408	1	2	1	0	1	0	0	0	0	0	0	0	16849	1608	56	4		4	TXNDC6	3	137981408	Intron	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	497237	137981408	60041022	90	90											
HPS3	84343	genome.wustl.edu	37	chr3	148876470	148876470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggcttgactcccagcattCtcatctcaccttgccatact	8	13	5	15	0	2	1	2	1	2	0	5	1	3	1	3	1	3	2	3	1	2	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:148876470C>T	ENST00000296051.2	+	10	1849	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	HPS3_ENST00000460120.1_Missense_Mutation_p.S405F	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	570					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCCCAGCATTCTCATCTCACC	0.438									Hermansky-Pudlak syndrome																																								0													125	130	129					3																	148876470		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1709C>T	3.37:g.148876470C>T	ENSP00000296051:p.Ser570Phe		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_HPS3	p.S570F	ENST00000296051.2	37	c.1709	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	C	6.461	0.453226	0.12283	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.64085	-0.08;-0.08	5.4	5.4	0.78164	.	0.272597	0.43919	D	0.000520	T	0.53190	0.1781	M	0.62723	1.935	0.25237	N	0.989782	B;B	0.19445	0.036;0.004	B;B	0.19666	0.026;0.017	T	0.43065	-0.9414	10	0.07990	T	0.79	-4.3683	9.3625	0.38203	0.1547:0.7691:0.0:0.0762	.	405;570	G5E9V4;Q969F9	.;HPS3_HUMAN	F	570;405	ENSP00000296051:S570F;ENSP00000418230:S405F	ENSP00000296051:S570F	S	+	2	0	HPS3	150359160	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.339000	0.33885	2.719000	0.93026	0.650000	0.86243	TCT	HPS3	-	pirsf_HPS3	ENSG00000163755		0.438	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	-	0	59	0	C	NM_032383		148876470	1	tier1	-	no_errors	ENST00000296051	ensembl	human	known	74_37	missense	29.82	40	17	SNP	1.000	T	T	148876470	C	T	148876470	3	4	1	1	0	0	0	0	1	0	0	0	7367	913	32	3	1747	3	HPS3	3	148876470	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	10895062	148876470	49145960	91	91											
SLITRK3	22865	genome.wustl.edu	37	chr3	164905923	164905923	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccatagagacagtccacaAatcccactgtgcagggggca	12	7	10	12	0	0	1	0	0	0	1	3	2	3	1	3	2	1	2	3	2	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:164905923A>T	ENST00000475390.1	-	2	3139	c.2696T>A	c.(2695-2697)tTt>tAt	p.F899Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.F899Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	899					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ACAGTCCACAAATCCCACTGT	0.552										HNSCC(40;0.11)																																							0													68	67	67					3																	164905923		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2696T>A	3.37:g.164905923A>T	ENSP00000420091:p.Phe899Tyr		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F899Y	ENST00000475390.1	37	c.2696	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020184	0.54576	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.56776	0.44;0.44	5.75	5.75	0.90469	.	0.000000	0.35436	N	0.003202	T	0.41880	0.1178	N	0.24115	0.695	0.48040	D	0.999572	B	0.26445	0.149	B	0.25884	0.064	T	0.31998	-0.9923	10	0.51188	T	0.08	-14.7009	15.7357	0.77842	1.0:0.0:0.0:0.0	.	899	O94933	SLIK3_HUMAN	Y	899	ENSP00000420091:F899Y;ENSP00000241274:F899Y	ENSP00000241274:F899Y	F	-	2	0	SLITRK3	166388617	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.530000	0.67141	2.195000	0.70347	0.533000	0.62120	TTT	SLITRK3	-	NULL	ENSG00000121871		0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	56	0	A	NM_014926		164905923	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T	T	164905923	A	T	164905923	3	4	1	1	0	0	0	0	1	0	0	0	14789	14	1	5	241	5	SLITRK3	3	164905923	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	16029453	164905923	33116507	92	92											
NAALADL2	254827	genome.wustl.edu	37	chr3	175520935	175520935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagcattaattcagctcagGtttacttcaaagcaggactt	13	12	7	9	0	3	0	3	0	0	0	3	1	3	1	0	2	4	4	0	2	3	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:175520935G>T	ENST00000454872.1	+	14	2460	c.2332G>T	c.(2332-2334)Gtt>Ttt	p.V778F		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	778						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTCAGCTCAGGTTTACTTCAA	0.403																																																	0													104	98	100					3																	175520935		1831	4088	5919	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2332G>T	3.37:g.175520935G>T	ENSP00000404705:p.Val778Phe		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.V778F	ENST00000454872.1	37	c.2332	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	4.394	0.072688	0.08436	.	.	ENSG00000177694	ENST00000454872	T	0.29397	1.57	5.6	3.78	0.43462	Transferrin receptor-like, dimerisation domain (1);	1.056540	0.07450	N	0.898814	T	0.20007	0.0481	L	0.27053	0.805	0.26389	N	0.976617	P	0.50272	0.933	B	0.39876	0.312	T	0.02553	-1.1142	10	0.09084	T	0.74	-11.4544	9.2155	0.37344	0.0741:0.2771:0.6488:0.0	.	778	Q58DX5	NADL2_HUMAN	F	778	ENSP00000404705:V778F	ENSP00000404705:V778F	V	+	1	0	NAALADL2	177003629	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	2.967000	0.49216	0.696000	0.31696	0.573000	0.79308	GTT	NAALADL2	-	superfamily_TFR-like_dimer_dom	ENSG00000177694		0.403	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2		0	52	0	G	NM_207015		175520935	1			no_errors	ENST00000454872	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	175520935	G	T	175520935	3	4	1	1	0	0	0	0	1	0	0	0	10168	1261	44	3	2386	3	NAALADL2	3	175520935	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	10615012	175520935	22501495	93	93											
PEX5L	51555	genome.wustl.edu	37	chr3	179605521	179605521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtttcacagagaaagtCatcgatggagggactcagga	12	10	13	6	1	3	1	3	0	0	1	4	6	3	4	0	4	0	1	0	4	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:179605521C>A	ENST00000467460.1	-	4	580	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	PEX5L_ENST00000465751.1_Missense_Mutation_p.D60Y|PEX5L_ENST00000472994.1_Missense_Mutation_p.D25Y|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.D41Y|PEX5L_ENST00000476138.1_Missense_Mutation_p.D41Y|PEX5L_ENST00000485199.1_Missense_Mutation_p.D49Y|PEX5L_ENST00000263962.8_Missense_Mutation_p.D82Y|PEX5L_ENST00000464614.1_Missense_Mutation_p.D41Y	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	84					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGAGAAAGTCATCGATGGAG	0.438																																																	0													224	221	222					3																	179605521		2203	4300	6503	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.250G>T	3.37:g.179605521C>A	ENSP00000419975:p.Asp84Tyr		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D84Y	ENST00000467460.1	37	c.250	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562714	0.86335	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000469198;ENST00000463761	D;D;D;D;D;D;D;D	0.95724	-3.31;-3.32;-3.18;-3.79;-3.23;-3.24;-3.79;-3.26	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96426	0.8834	L	0.32530	0.975	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.993;0.999;0.999;0.998	D	0.97158	0.9836	10	0.87932	D	0	-24.2979	19.6685	0.95901	0.0:1.0:0.0:0.0	.	25;60;41;82;49;84	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	Y	84;82;49;82;41;41;37;25;41;60;73;108	ENSP00000419975:D84Y;ENSP00000263962:D82Y;ENSP00000418440:D49Y;ENSP00000376420:D41Y;ENSP00000420555:D41Y;ENSP00000418054:D25Y;ENSP00000417270:D41Y;ENSP00000419348:D60Y	ENSP00000263962:D82Y	D	-	1	0	PEX5L	181088215	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.639000	0.89480	0.655000	0.94253	GAC	PEX5L	-	NULL	ENSG00000114757		0.438	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0	62	0	C	NM_016559		179605521	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	A	A	179605521	C	A	179605521	3	1	1	1	0	0	0	0	1	0	0	0	11788	826	29	3	1678	3	PEX5L	3	179605521	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4084586	179605521	18416909	94	94											
CCDC50	152137	genome.wustl.edu	37	chr3	191093190	191093190	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagattaaccatcagactcGaaattgggaaaaacagtctc	17	9	7	8	1	2	2	1	0	1	2	4	4	2	3	1	1	2	0	1	1	5	3	rs534593003		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr3:191093190G>A	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Missense_Mutation_p.R263Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		CATCAGACTCGAAATTGGGAA	0.488																																																	0													97	88	91					3																	191093190		2203	4300	6503	SO:0001627	intron_variant	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4758G>A	3.37:g.191093190G>A			Q86VH7	Missense_Mutation	SNP	NULL	p.R263Q	ENST00000392455.3	37	c.788	CCDS33913.1	3	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540445	0.27563	.	.	ENSG00000152492	ENST00000392456	T	0.32515	1.45	5.78	1.82	0.25136	.	0.446213	0.19208	N	0.120016	T	0.20007	0.0481	.	.	.	0.09310	N	1	B	0.20988	0.05	B	0.13407	0.009	T	0.16424	-1.0403	9	0.33141	T	0.24	.	9.4196	0.38544	0.0769:0.4073:0.5158:0.0	.	263	Q8IVM0-2	.	Q	263	ENSP00000376250:R263Q	ENSP00000376250:R263Q	R	+	2	0	CCDC50	192575884	0.000000	0.05858	0.053000	0.19242	0.042000	0.13812	-0.355000	0.07671	0.350000	0.24002	0.655000	0.94253	CGA	CCDC50	-	NULL	ENSG00000152492		0.488	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1		0	36	0	G	NM_174908		191093190	1			no_errors	ENST00000392456	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.007	A	A	191093190	G	A	191093190	1	1	1	0	1	0	0	0	0	0	0	0	2827	1058	37	1		1	CCDC50	3	191093190	Intron	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	11487669	191093190	6929240	95	95											
WHSC1	7468	genome.wustl.edu	37	chr4	1932412	1932412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctgctcaggtcacaGtggagtctgctgagtgagaa	11	8	15	7	0	3	3	2	2	1	2	3	6	3	4	0	2	3	3	0	2	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:1932412G>T	ENST00000382895.3	+	8	1901	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	WHSC1_ENST00000382891.5_Missense_Mutation_p.Q490H|WHSC1_ENST00000508803.1_Missense_Mutation_p.Q490H|WHSC1_ENST00000382892.2_Missense_Mutation_p.Q490H|WHSC1_ENST00000503128.1_Missense_Mutation_p.Q490H|WHSC1_ENST00000420906.2_Missense_Mutation_p.Q490H|WHSC1_ENST00000514045.1_Missense_Mutation_p.Q490H|WHSC1_ENST00000398261.1_Missense_Mutation_p.Q490H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	490					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCAGGTCACAGTGGAGTCTGC	0.522			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													111	100	104					4																	1932412		2203	4300	6503	SO:0001583	missense	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1470G>T	4.37:g.1932412G>T	ENSP00000372351:p.Gln490His		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.Q490H	ENST00000382895.3	37	c.1470	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381548	0.61845	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;D;D;D;D;D;D;D	0.98012	-3.62;-4.66;-3.62;-3.62;-4.66;-3.62;-4.66;-4.66	5.85	4.13	0.48395	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.56097	D	0.000037	D	0.98327	0.9445	M	0.74647	2.275	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.998;0.961;0.998	D	0.98100	1.0414	10	0.51188	T	0.08	.	12.8218	0.57698	0.1332:0.0:0.8668:0.0	.	490;490;490	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	H	490	ENSP00000423972:Q490H;ENSP00000421681:Q490H;ENSP00000372347:Q490H;ENSP00000372348:Q490H;ENSP00000399251:Q490H;ENSP00000372351:Q490H;ENSP00000425761:Q490H;ENSP00000381311:Q490H	ENSP00000308780:Q490H	Q	+	3	2	WHSC1	1902210	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.150000	0.50662	0.816000	0.34421	0.555000	0.69702	CAG	WHSC1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000109685		0.522	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	-	0	74	0	G	NM_133330		1932412	1	tier1	-	no_errors	ENST00000382891	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	1932412	G	T	1932412	3	4	1	1	0	0	0	0	1	0	0	0	17411	1020	36	3	1488	3	WHSC1	4	1932412	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		1932412	189221864	96	96											
CPEB2	132864	genome.wustl.edu	37	chr4	15004737	15004739	+	5'Flank	DEL	CCT	CCT	-																															caaaccgagtctgcaccaccCctcctcctcctccgcctcct																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:15004737_15004739delCCT	ENST00000507071.1	+	0	0				CPEB2_ENST00000259997.5_5'Flank|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000345451.3_5'Flank|CPEB2_ENST00000442003.2_In_Frame_Del_p.S151del|CPEB2_ENST00000382401.3_5'Flank|CPEB2_ENST00000541112.1_In_Frame_Del_p.S151del|CPEB2_ENST00000538197.1_In_Frame_Del_p.S151del|CPEB2_ENST00000382395.3_5'Flank			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2						cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CTGCACCACCcctcctcctcctc	0.67																																																	0																																										SO:0001631	upstream_gene_variant	0			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669		4.37:g.15004746_15004748delCCT	Exception_encountered		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S151in_frame_del	ENST00000507071.1	37	c.440_442		4																																																																																			CPEB2	-	NULL	ENSG00000137449		0.67	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2		0	21	0	CCT	XM_059607		15004739	1	tier1		no_errors	ENST00000538197	ensembl	human	known	74_37	in_frame_del	25.00	6	2	DEL	1.000:1.000:0.998	-	-	15004739	CCT	-	15004737	6	5	1	0	1	1	0	1	0	0	0	0	3808	623	22	0		0	CPEB2	4	15004737	5'Flank	DEL	CCT	TCGA-2H-A9GF-01A-11D-A37C-09	13072325	15004737	176149539	97	97											
TBC1D19	55296	genome.wustl.edu	37	chr4	26750061	26750061	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatttaagtggatggttCgagctttctctggatactta	9	17	9	6	1	2	0	1	0	1	0	4	3	2	2	0	3	2	2	0	3	4	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:26750061C>A	ENST00000264866.4	+	19	1626	c.1348C>A	c.(1348-1350)Cga>Aga	p.R450R	TBC1D19_ENST00000511789.1_Silent_p.R385R	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	450	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GTGGATGGTTCGAGCTTTCTC	0.343																																																	0													143	143	143					4																	26750061		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1348C>A	4.37:g.26750061C>A			B9A6M0|Q9NUX1	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R450	ENST00000264866.4	37	c.1348	CCDS3439.1	4																																																																																			TBC1D19	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109680		0.343	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	-	0	48	0	C	NM_018317		26750061	1	tier1	-	no_errors	ENST00000264866	ensembl	human	known	74_37	silent	33.33	12	6	SNP	0.996	A	A	26750061	C	A	26750061	2	1	1	1	0	0	0	0	0	0	0	1	15654	876	31	2		2	TBC1D19	4	26750061	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	11745324	26750061	164404215	98	98											
ATP10D	57205	genome.wustl.edu	37	chr4	47525147	47525147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcttttccactgatccaGatggaatctgtcacattgag	10	14	7	10	0	3	3	1	2	2	1	5	4	5	4	2	1	1	0	2	1	2	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:47525147G>T	ENST00000273859.3	+	4	873	c.604G>T	c.(604-606)Gat>Tat	p.D202Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.D202Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	202					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D202N(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACTGATCCAGATGGAATCTG	0.468																																																	1	Substitution - Missense(1)	skin(1)											129	112	118					4																	47525147		2203	4300	6503	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.604G>T	4.37:g.47525147G>T	ENSP00000273859:p.Asp202Tyr		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D202Y	ENST00000273859.3	37	c.604	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788393	0.70337	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.74842	-0.88;-0.88	5.74	5.74	0.90152	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.128879	0.53938	D	0.000043	D	0.87229	0.6125	M	0.81942	2.565	0.32610	N	0.524681	D;P	0.64830	0.994;0.537	D;P	0.72982	0.979;0.653	D	0.89583	0.3822	10	0.66056	D	0.02	-23.1985	18.8998	0.92437	0.0:0.0:1.0:0.0	.	202;202	Q9P241;Q6PEW3	AT10D_HUMAN;.	Y	202	ENSP00000273859:D202Y;ENSP00000420909:D202Y	ENSP00000273859:D202Y	D	+	1	0	ATP10D	47219904	0.999000	0.42202	0.996000	0.52242	0.993000	0.82548	2.882000	0.48546	2.716000	0.92895	0.484000	0.47621	GAT	ATP10D	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1		0	62	0	G	NM_020453		47525147	1			no_errors	ENST00000273859	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.970	T	T	47525147	G	T	47525147	3	4	1	1	0	0	0	0	1	0	0	0	1119	942	33	3	614	3	ATP10D	4	47525147	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	20775086	47525147	143629129	99	99											
UGT2B4	7363	genome.wustl.edu	37	chr4	70361097	70361097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggtattttaagtaactcGgccagcagctcaccaaaggg	13	8	11	9	1	1	0	1	0	0	0	2	0	1	0	2	3	3	4	2	3	5	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:70361097G>A	ENST00000305107.6	-	1	529	c.483C>T	c.(481-483)gcC>gcT	p.A161A	UGT2B4_ENST00000381096.3_Silent_p.A25A|UGT2B4_ENST00000512583.1_Silent_p.A161A|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	161					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TAAGTAACTCGGCCAGCAGCT	0.433																																																	0													50	51	51					4																	70361097		2172	4298	6470	SO:0001819	synonymous_variant	0			BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"UDP glucuronosyltransferases"	12553	protein-coding gene	gene with protein product		600067	"UDP glycosyltransferase 2 family, polypeptide B4"			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.483C>T	4.37:g.70361097G>A			A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.A161	ENST00000305107.6	37	c.483	CCDS43234.1	4																																																																																			UGT2B4	-	pfam_UDP_glucos_trans	ENSG00000156096		0.433	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B4	HGNC	protein_coding	OTTHUMT00000365526.1	-	0	65	0	G	NM_021139		70361097	-1	tier1	-	no_errors	ENST00000305107	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.181	A	A	70361097	G	A	70361097	2	1	1	1	0	0	0	0	0	0	0	1	17010	1103	39	1		1	UGT2B4	4	70361097	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	22835950	70361097	120793179	100	100											
RUFY3	22902	genome.wustl.edu	37	chr4	71655255	71655255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagtgaactaaacagtcGcttggaagagaagactaatc	18	7	10	6	1	0	3	0	1	0	2	2	6	0	4	0	1	2	1	0	1	8	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:71655255G>T	ENST00000226328.4	+	12	1846	c.1283G>T	c.(1282-1284)cGc>cTc	p.R428L	RUFY3_ENST00000536664.1_Missense_Mutation_p.R412L|RUFY3_ENST00000417478.2_Missense_Mutation_p.R488L|RUFY3_ENST00000502653.1_Missense_Mutation_p.R375L|RUFY3_ENST00000381006.3_Missense_Mutation_p.R428L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	428					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CTAAACAGTCGCTTGGAAGAG	0.343																																																	0													124	127	126					4																	71655255		2203	4300	6503	SO:0001583	missense	0			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.1283G>T	4.37:g.71655255G>T	ENSP00000226328:p.Arg428Leu		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.R488L	ENST00000226328.4	37	c.1463	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.110707	0.94292	.	.	ENSG00000018189	ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000502653	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	M	0.65975	2.015	0.80722	D	1	P;D;B;P	0.53151	0.802;0.958;0.451;0.668	P;P;B;B	0.47299	0.483;0.543;0.088;0.343	T	0.01767	-1.1278	10	0.72032	D	0.01	-4.0092	19.3098	0.94182	0.0:0.0:1.0:0.0	.	412;428;428;488	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	L	488;428;428;412;375	ENSP00000399771:R488L;ENSP00000370394:R428L;ENSP00000226328:R428L;ENSP00000443652:R412L;ENSP00000425400:R375L	ENSP00000226328:R428L	R	+	2	0	RUFY3	71874119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.118000	0.94355	2.565000	0.86533	0.655000	0.94253	CGC	RUFY3	-	NULL	ENSG00000018189		0.343	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2		0	76	0	G	NM_014961		71655255	1			no_errors	ENST00000417478	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	71655255	G	T	71655255	3	4	1	1	0	0	0	0	1	0	0	0	13785	1087	38	2	1691	2	RUFY3	4	71655255	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1294158	71655255	119499021	101	101											
PRKG2	5593	genome.wustl.edu	37	chr4	82074836	82074836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaaggtacttccttcctCgccctctctaatgatgtaat	11	13	6	11	1	1	1	0	1	1	0	5	2	3	1	3	1	1	2	3	1	5	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:82074836C>T	ENST00000395578.1	-	7	1068	c.952G>A	c.(952-954)Gag>Aag	p.E318K	PRKG2_ENST00000418486.2_Missense_Mutation_p.E318K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.E318K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	318					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTTCCTTCCTCGCCCTCTCTA	0.348																																																	0													98	93	95					4																	82074836		2203	4300	6503	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.952G>A	4.37:g.82074836C>T	ENSP00000378945:p.Glu318Lys		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.E318K	ENST00000395578.1	37	c.952	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922585	0.92319	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	T;T;T	0.35605	1.3;1.3;1.3	6.08	6.08	0.98989	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.094100	0.64402	D	0.000001	T	0.65417	0.2689	M	0.88512	2.96	0.80722	D	1	D;D	0.69078	0.99;0.997	P;P	0.61132	0.833;0.884	T	0.68405	-0.5417	10	0.52906	T	0.07	-31.7037	19.4436	0.94836	0.0:1.0:0.0:0.0	.	318;318	E7EPE6;Q13237	.;KGP2_HUMAN	K	318	ENSP00000378945:E318K;ENSP00000264399:E318K;ENSP00000389038:E318K	ENSP00000264399:E318K	E	-	1	0	PRKG2	82293860	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	6.498000	0.73679	2.894000	0.99253	0.591000	0.81541	GAG	PRKG2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom	ENSG00000138669		0.348	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0	47	0	C	NM_006259		82074836	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.998	T	T	82074836	C	T	82074836	3	4	1	1	0	0	0	0	1	0	0	0	12565	893	31	1	1388	1	PRKG2	4	82074836	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	10419581	82074836	109079440	102	102											
AGXT2L1	64850	genome.wustl.edu	37	chr4	109674133	109674133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagtctgcatggtcttctCtatattttcctctgtaagta	7	18	7	9	0	4	1	0	1	4	0	6	1	5	1	1	1	1	3	1	1	4	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:109674133C>G	ENST00000296486.3	-	6	690	c.536G>C	c.(535-537)aGa>aCa	p.R179T	ETNPPL_ENST00000510706.1_Missense_Mutation_p.R139T|ETNPPL_ENST00000411864.2_Missense_Mutation_p.R173T|ETNPPL_ENST00000512646.1_Missense_Mutation_p.R121T	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	179						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										ATGGTCTTCTCTATATTTTCC	0.368																																																	0													151	141	144					4																	109674133		2203	4300	6503	SO:0001583	missense	0			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.536G>C	4.37:g.109674133C>G	ENSP00000296486:p.Arg179Thr		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.R179T	ENST00000296486.3	37	c.536	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847966	0.91277	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.46	5.46	0.80206	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.43923	1.385	0.80722	D	1	B;B;P	0.50443	0.443;0.389;0.935	B;B;P	0.53760	0.3;0.274;0.734	T	0.38200	-0.9672	9	.	.	.	-32.733	19.3072	0.94167	0.0:1.0:0.0:0.0	.	121;173;179	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	T	179;173;121;139	ENSP00000296486:R179T;ENSP00000392269:R173T;ENSP00000427065:R121T;ENSP00000423240:R139T	.	R	-	2	0	AGXT2L1	109893582	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.082000	0.71318	2.555000	0.86185	0.655000	0.94253	AGA	ETNPPL	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	ENSG00000164089		0.368	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETNPPL	HGNC	protein_coding	OTTHUMT00000363508.1	-	0	53	0	C	NM_031279		109674133	-1	tier1	-	no_errors	ENST00000296486	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	G	G	109674133	C	G	109674133	3	3	1	1	0	0	0	0	1	0	0	0	406	913	32	5	995	5	AGXT2L1	4	109674133	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	27599297	109674133	81480143	103	103											
LARP7	51574	genome.wustl.edu	37	chr4	113567590	113567590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattgccagagcattgagaAgttcagctgttgtagaggta	12	12	12	5	0	1	3	1	1	0	3	1	4	1	3	1	1	3	6	1	1	4	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:113567590A>G	ENST00000344442.5	+	3	564	c.286A>G	c.(286-288)Agt>Ggt	p.S96G	MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.S103G|LARP7_ENST00000324052.6_Missense_Mutation_p.S96G|MIR302B_ENST00000505215.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR367_ENST00000362299.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	96	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGCATTGAGAAGTTCAGCTGT	0.254																																																	0													86	75	78					4																	113567590		1804	4078	5882	SO:0001583	missense	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	24912	protein-coding gene	gene with protein product	"P-TEFb-interaction protein for 7SK stability"	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.286A>G	4.37:g.113567590A>G	ENSP00000344950:p.Ser96Gly		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.S96G	ENST00000344442.5	37	c.286	CCDS3701.2	4	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294822	0.23564	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000508577;ENST00000505034;ENST00000324052;ENST00000507443	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.29	4.1	0.47936	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.044760	0.85682	D	0.000000	T	0.39091	0.1065	N	0.20574	0.59	0.41003	D	0.984948	B;D	0.54397	0.157;0.966	B;P	0.50934	0.065;0.654	T	0.11131	-1.0600	10	0.22706	T	0.39	-15.5156	10.8308	0.46659	0.9253:0.0:0.0747:0.0	.	96;96	D6RFF0;Q4G0J3	.;LARP7_HUMAN	G	96;103;96;96;96;96	ENSP00000344950:S96G;ENSP00000422626:S103G;ENSP00000426646:S96G;ENSP00000421541:S96G;ENSP00000314311:S96G;ENSP00000421963:S96G	ENSP00000314311:S96G	S	+	1	0	LARP7	113787039	1.000000	0.71417	0.326000	0.25389	0.078000	0.17371	8.616000	0.90924	0.834000	0.34852	0.482000	0.46254	AGT	LARP7	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	ENSG00000174720		0.254	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	-	0	76	0	A	NM_016648		113567590	1	tier1	-	no_errors	ENST00000324052	ensembl	human	known	74_37	missense	34.29	46	24	SNP	1.000	G	G	113567590	A	G	113567590	3	3	1	1	0	0	0	0	1	0	0	0	8661	72	3	4	292	4	LARP7	4	113567590	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	3893457	113567590	77586686	104	104											
ANK2	287	genome.wustl.edu	37	chr4	114158193	114158193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaggacacaaccaggcGgtggccatcctcttggagaa	12	5	12	12	1	1	1	0	0	1	1	2	3	2	2	3	5	2	1	3	5	3	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:114158193G>A	ENST00000357077.4	+	6	587	c.534G>A	c.(532-534)gcG>gcA	p.A178A	ANK2_ENST00000394537.3_Silent_p.A178A|ANK2_ENST00000506722.1_Silent_p.A157A|ANK2_ENST00000264366.6_Silent_p.A178A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	178					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAACCAGGCGGTGGCCATCC	0.498																																																	0													147	141	143					4																	114158193		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.534G>A	4.37:g.114158193G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.A178	ENST00000357077.4	37	c.534	CCDS3702.1	4																																																																																			ANK2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	27	0	G	NM_001148		114158193	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.136	A	A	114158193	G	A	114158193	2	1	1	1	0	0	0	0	0	0	0	1	621	1103	39	1		1	ANK2	4	114158193	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	590603	114158193	76996083	105	105											
ANK2	287	genome.wustl.edu	37	chr4	114199051	114199051	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcctggatgtggcaaaacTtctcttgcaacgccgtgctg	9	10	11	11	2	1	0	0	0	1	0	2	1	1	1	2	2	5	3	2	2	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:114199051T>G	ENST00000357077.4	+	16	1795	c.1742T>G	c.(1741-1743)cTt>cGt	p.L581R	ANK2_ENST00000394537.3_Missense_Mutation_p.L581R|ANK2_ENST00000506722.1_Missense_Mutation_p.L560R|ANK2_ENST00000264366.6_Missense_Mutation_p.L581R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	581					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGGCAAAACTTCTCTTGCAA	0.408																																																	0													74	76	75					4																	114199051		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1742T>G	4.37:g.114199051T>G	ENSP00000349588:p.Leu581Arg		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L581R	ENST00000357077.4	37	c.1742	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	T	25.4	4.638809	0.87760	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.46	5.46	0.80206	Ankyrin repeat-containing domain (3);	0.000000	0.46758	D	0.000267	D	0.82426	0.5034	M	0.80508	2.5	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.997;0.998	D;D;D;D;D	0.91635	0.98;0.999;0.999;0.944;0.949	D	0.85204	0.1017	10	0.87932	D	0	.	15.1945	0.73075	0.0:0.0:0.0:1.0	.	581;581;581;560;560	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	R	560;560;560;596;581;581;581;560	ENSP00000423799:L560R;ENSP00000421011:L560R;ENSP00000421067:L560R;ENSP00000424722:L596R;ENSP00000378044:L581R;ENSP00000349588:L581R;ENSP00000264366:L581R	ENSP00000264366:L581R	L	+	2	0	ANK2	114418500	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.921000	0.87530	2.047000	0.60756	0.455000	0.32223	CTT	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.408	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	42	0	T	NM_001148		114199051	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	G	G	114199051	T	G	114199051	3	3	1	1	0	0	0	0	1	0	0	0	621	1609	56	4	1829	4	ANK2	4	114199051	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	40858	114199051	76955225	106	106											
TRAM1L1	133022	genome.wustl.edu	37	chr4	118005607	118005607	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaagccagagagtaattaAgttccatgttacgtaggctt	12	12	10	7	1	0	2	0	1	0	1	1	3	1	2	2	1	2	5	2	1	5	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:118005607A>C	ENST00000310754.4	-	1	1129	c.943T>G	c.(943-945)Tta>Gta	p.L315V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	315	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTAATTAAGTTCCATGTT	0.408																																																	0													138	135	136					4																	118005607		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.943T>G	4.37:g.118005607A>C	ENSP00000309402:p.Leu315Val		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.L315V	ENST00000310754.4	37	c.943	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	6.876	0.531108	0.13127	.	.	ENSG00000174599	ENST00000310754	T	0.44482	0.92	3.59	2.4	0.29515	TRAM/LAG1/CLN8 homology domain (2);	0.228556	0.44902	D	0.000401	T	0.35248	0.0925	L	0.33485	1.01	0.09310	N	0.999999	B	0.32862	0.387	B	0.42959	0.403	T	0.27157	-1.0082	10	0.62326	D	0.03	-24.3027	5.7828	0.18316	0.8779:0.0:0.1221:0.0	.	315	Q8N609	TR1L1_HUMAN	V	315	ENSP00000309402:L315V	ENSP00000309402:L315V	L	-	1	2	TRAM1L1	118225055	1.000000	0.71417	0.338000	0.25549	0.057000	0.15508	1.721000	0.38032	0.732000	0.32470	-0.297000	0.09499	TTA	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.408	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0	62	0	A	NM_152402		118005607	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.297	C	C	118005607	A	C	118005607	3	2	1	1	0	0	0	0	1	0	0	0	16500	69	3	4	170	4	TRAM1L1	4	118005607	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	3806556	118005607	73148669	107	107											
NDST3	9348	genome.wustl.edu	37	chr4	119026255	119026255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcagggaaattttaccAtacaggtaagaaaaagggat	17	11	9	4	0	1	1	1	0	0	1	1	3	1	3	1	3	2	1	1	3	6	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:119026255A>G	ENST00000296499.5	+	3	1467	c.1064A>G	c.(1063-1065)cAt>cGt	p.H355R	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	355	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAATTTTACCATACAGGTAAG	0.368																																																	0													99	109	106					4																	119026255		2203	4298	6501	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1064A>G	4.37:g.119026255A>G	ENSP00000296499:p.His355Arg		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.H355R	ENST00000296499.5	37	c.1064	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046819	0.75846	.	.	ENSG00000164100	ENST00000296499	T	0.36699	1.24	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.53270	0.1786	L	0.57536	1.79	0.80722	D	1	P	0.45126	0.851	P	0.60173	0.87	T	0.46569	-0.9182	10	0.31617	T	0.26	.	15.359	0.74453	1.0:0.0:0.0:0.0	.	355	O95803	NDST3_HUMAN	R	355	ENSP00000296499:H355R	ENSP00000296499:H355R	H	+	2	0	NDST3	119245703	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.105000	0.94246	2.026000	0.59711	0.455000	0.32223	CAT	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.368	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0	65	0	A	NM_004784		119026255	1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	G	G	119026255	A	G	119026255	3	3	1	1	0	0	0	0	1	0	0	0	10296	217	8	4	1070	4	NDST3	4	119026255	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	1020648	119026255	72128021	108	108											
FAT4	79633	genome.wustl.edu	37	chr4	126328257	126328257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacacccaaattttccagaCccgtgtactcttttgacatt	11	14	4	12	1	1	2	0	1	1	1	2	2	2	2	3	0	2	1	3	0	3	7	rs76963800	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:126328257C>A	ENST00000394329.3	+	3	5543	c.5530C>A	c.(5530-5532)Ccc>Acc	p.P1844T	FAT4_ENST00000335110.5_Missense_Mutation_p.P142T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1844	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTTCCAGACCCGTGTACTC	0.413																																																	0													136	131	133					4																	126328257		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5530C>A	4.37:g.126328257C>A	ENSP00000377862:p.Pro1844Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P1844T	ENST00000394329.3	37	c.5530	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.672063	0.00758	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.03035	4.07;4.07	5.41	5.41	0.78517	Cadherin (2);Cadherin-like (1);	0.000000	0.34314	U	0.004061	T	0.02455	0.0075	N	0.15975	0.35	0.18873	N	0.999981	B;B	0.28900	0.042;0.227	B;B	0.28465	0.037;0.09	T	0.50136	-0.8863	10	0.15499	T	0.54	.	9.5299	0.39187	0.0:0.7812:0.1438:0.075	.	142;1844	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	1844;142	ENSP00000377862:P1844T;ENSP00000335169:P142T	ENSP00000335169:P142T	P	+	1	0	FAT4	126547707	0.011000	0.17503	0.955000	0.39395	0.329000	0.28539	1.391000	0.34475	2.684000	0.91462	0.650000	0.86243	CCC	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	46	0	C	NM_024582		126328257	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.178	A	A	126328257	C	A	126328257	3	1	1	1	0	0	0	0	1	0	0	0	5714	507	18	3	5540	3	FAT4	4	126328257	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7302002	126328257	64826019	109	109											
PCDH18	54510	genome.wustl.edu	37	chr4	138449720	138449720	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctcgccccaaatcataAtcactgtctcctgcctcact	10	11	4	16	1	5	0	3	0	2	0	7	1	5	0	4	0	1	0	4	0	3	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:138449720A>C	ENST00000344876.4	-	3	3038	c.2652T>G	c.(2650-2652)gaT>gaG	p.D884E	PCDH18_ENST00000510305.1_Missense_Mutation_p.D95E|PCDH18_ENST00000507846.1_Missense_Mutation_p.D663E|PCDH18_ENST00000412923.2_Missense_Mutation_p.D883E|PCDH18_ENST00000511115.1_Missense_Mutation_p.D64E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	884					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCAAATCATAATCACTGTCTC	0.443																																																	0													209	224	219					4																	138449720		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2652T>G	4.37:g.138449720A>C	ENSP00000355082:p.Asp884Glu		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D884E	ENST00000344876.4	37	c.2652	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641959	0.67244	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.58797	0.36;0.39;0.31;1.14;1.16	5.56	-2.51	0.06365	.	0.000000	0.44688	D	0.000424	T	0.38295	0.1035	L	0.39397	1.21	0.46701	D	0.999167	P;B;P;B	0.43231	0.629;0.214;0.801;0.441	B;B;B;B	0.40256	0.126;0.091;0.324;0.091	T	0.25117	-1.0141	10	0.19147	T	0.46	.	6.7033	0.23236	0.5507:0.12:0.3293:0.0	.	64;663;883;884	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	E	884;883;663;95;64	ENSP00000355082:D884E;ENSP00000390688:D883E;ENSP00000425903:D663E;ENSP00000424269:D95E;ENSP00000425647:D64E	ENSP00000355082:D884E	D	-	3	2	PCDH18	138669170	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	1.599000	0.36751	-0.413000	0.07507	-0.250000	0.11733	GAT	PCDH18	-	NULL	ENSG00000189184		0.443	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	66	0	A	NM_019035		138449720	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.996	C	C	138449720	A	C	138449720	3	2	1	1	0	0	0	0	1	0	0	0	11552	98	4	4	763	4	PCDH18	4	138449720	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	12121463	138449720	52704556	110	110											
RNF175	285533	genome.wustl.edu	37	chr4	154669910	154669910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggaatcgtggccccggtGcatcttgtacatcctctcct	6	12	9	14	2	2	0	0	0	2	0	5	1	3	1	4	3	2	2	4	3	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:154669910G>A	ENST00000347063.4	-	3	505	c.133C>T	c.(133-135)Cac>Tac	p.H45Y	RNF175_ENST00000506505.1_5'UTR|RNF175_ENST00000274068.4_5'UTR	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	45						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGGCCCCGGTGCATCTTGTAC	0.488																																																	0													61	65	64					4																	154669910		2044	4199	6243	SO:0001583	missense	0			BC034385	CCDS47149.1	4q31.3	2008-02-05			ENSG00000145428	ENSG00000145428		"RING-type (C3HC4) zinc fingers"	27735	protein-coding gene	gene with protein product							Standard	NM_173662		Approved	FLJ34190	uc003int.3	Q8N4F7	OTTHUMG00000161557	ENST00000347063.4:c.133C>T	4.37:g.154669910G>A	ENSP00000340979:p.His45Tyr		C9JL66|Q8NB61	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.H45Y	ENST00000347063.4	37	c.133	CCDS47149.1	4	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910506	0.72983	.	.	ENSG00000145428	ENST00000347063	T	0.47528	0.84	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.71324	0.3326	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.77395	-0.2604	10	0.87932	D	0	-19.1737	14.5512	0.68068	0.0:0.0:1.0:0.0	.	45	Q8N4F7	RN175_HUMAN	Y	45	ENSP00000340979:H45Y	ENSP00000340979:H45Y	H	-	1	0	RNF175	154889360	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	8.371000	0.90123	2.557000	0.86248	0.655000	0.94253	CAC	RNF175	-	NULL	ENSG00000145428		0.488	RNF175-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	RNF175	HGNC	protein_coding	OTTHUMT00000365286.1		0	49	0	G	NM_173662		154669910	-1			no_errors	ENST00000347063	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	154669910	G	A	154669910	3	1	1	1	0	0	0	0	1	0	0	0	13508	1319	46	3	881	3	RNF175	4	154669910	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	16220190	154669910	36484366	111	111											
GUCY1A3	2982	genome.wustl.edu	37	chr4	156632138	156632138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagcaaaccccagtcctCgctggtgattcccacatcgc	8	7	7	19	2	0	1	0	1	0	0	4	1	2	1	6	1	2	2	6	1	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:156632138C>T	ENST00000296518.7	+	6	1030	c.821C>T	c.(820-822)tCg>tTg	p.S274L	GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S274L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S274L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S16L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	274					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CCCCAGTCCTCGCTGGTGATT	0.458																																																	0													110	105	107					4																	156632138		2203	4300	6503	SO:0001583	missense	0				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.821C>T	4.37:g.156632138C>T	ENSP00000296518:p.Ser274Leu		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S274L	ENST00000296518.7	37	c.821	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827491	0.71143	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.76	5.76	0.90799	Haem NO binding associated (1);	0.104953	0.42964	D	0.000633	D	0.85898	0.5804	L	0.36672	1.1	0.40892	D	0.984083	P;P;P	0.48230	0.907;0.907;0.907	P;P;P	0.44561	0.453;0.453;0.453	D	0.86687	0.1920	10	0.49607	T	0.09	.	15.086	0.72155	0.1417:0.8583:0.0:0.0	.	274;274;274	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	L	274;274;274;274;16;274;274	ENSP00000424361:S274L;ENSP00000421493:S274L;ENSP00000426968:S274L;ENSP00000412201:S274L;ENSP00000377418:S16L;ENSP00000296518:S274L;ENSP00000426040:S274L	ENSP00000296518:S274L	S	+	2	0	GUCY1A3	156851588	0.983000	0.35010	0.994000	0.49952	0.965000	0.64279	1.740000	0.38228	2.876000	0.98609	0.643000	0.83706	TCG	GUCY1A3	-	pfam_Haem_no_assoc-bd	ENSG00000164116		0.458	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	-	0	43	0	C			156632138	1	tier1	-	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	34.78	30	16	SNP	0.864	T	T	156632138	C	T	156632138	3	4	1	1	0	0	0	0	1	0	0	0	6921	893	31	1	835	1	GUCY1A3	4	156632138	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1962228	156632138	34522138	112	112											
GLRB	2743	genome.wustl.edu	37	chr4	158064985	158064985	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacatgcgtggaagtcatcTtcaccctgaggaggcaggtc	10	8	12	11	1	3	1	2	1	1	0	4	3	3	3	1	4	1	1	1	4	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:158064985T>G	ENST00000264428.4	+	8	1048	c.778T>G	c.(778-780)Ttc>Gtc	p.F260V	GLRB_ENST00000509282.1_Missense_Mutation_p.F260V|GLRB_ENST00000541722.1_Missense_Mutation_p.F260V|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	260					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GGAAGTCATCTTCACCCTGAG	0.502																																																	0													157	116	130					4																	158064985		2203	4300	6503	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.778T>G	4.37:g.158064985T>G	ENSP00000264428:p.Phe260Val		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F260V	ENST00000264428.4	37	c.778	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039470	0.93630	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79454	-1.27;-1.27;-1.27	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91092	0.7196	M	0.93898	3.47	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	D	0.93190	0.6582	10	0.87932	D	0	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	260	P48167	GLRB_HUMAN	V	260	ENSP00000264428:F260V;ENSP00000441873:F260V;ENSP00000427186:F260V	ENSP00000264428:F260V	F	+	1	0	GLRB	158284435	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.982000	0.88131	2.271000	0.75665	0.533000	0.62120	TTC	GLRB	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000109738		0.502	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0	34	0	T	NM_000824		158064985	1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G	G	158064985	T	G	158064985	3	3	1	1	0	0	0	0	1	0	0	0	6484	1609	56	4	804	4	GLRB	4	158064985	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	1432847	158064985	33089291	113	113											
VEGFC	7424	genome.wustl.edu	37	chr4	177608398	177608398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatttctgtggactttctGtacattcacaggcacatttt	9	16	7	9	0	3	0	1	0	2	0	3	1	3	1	0	2	2	3	0	2	1	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:177608398G>T	ENST00000280193.2	-	6	1503	c.1088C>A	c.(1087-1089)aCa>aAa	p.T363K	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	363					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGGACTTTCTGTACATTCACA	0.388																																																	0													257	232	240					4																	177608398		1851	4096	5947	SO:0001583	missense	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1088C>A	4.37:g.177608398G>T	ENSP00000280193:p.Thr363Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.T363K	ENST00000280193.2	37	c.1088	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	G	9.739	1.164238	0.21538	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.62	5.62	0.85841	.	0.123969	0.56097	D	0.000028	T	0.53238	0.1784	L	0.55481	1.735	0.46631	D	0.999135	P	0.38922	0.651	B	0.40901	0.343	T	0.50499	-0.8821	9	0.29301	T	0.29	-17.5201	10.717	0.46019	0.115:0.0:0.885:0.0	.	363	P49767	VEGFC_HUMAN	K	363	.	ENSP00000280193:T363K	T	-	2	0	VEGFC	177845392	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	2.633000	0.89246	0.655000	0.94253	ACA	VEGFC	-	NULL	ENSG00000150630		0.388	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	-	0	95	0	G	NM_005429		177608398	-1	tier1	-	no_errors	ENST00000280193	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	T	T	177608398	G	T	177608398	3	4	1	1	0	0	0	0	1	0	0	0	17201	1377	48	3	182	3	VEGFC	4	177608398	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	19543413	177608398	13545878	114	114											
ZFP42	132625	genome.wustl.edu	37	chr4	188924613	188924613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggtccccgagaccacGtctgtgcggaatgtgggaaa	9	9	13	10	3	2	1	1	0	1	1	3	4	3	3	3	3	1	0	3	3	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr4:188924613G>A	ENST00000326866.4	+	4	1060	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V218I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	218					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCGAGACCACGTCTGTGCGGA	0.502																																																	0													121	125	124					4																	188924613		2203	4300	6503	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.652G>A	4.37:g.188924613G>A	ENSP00000317686:p.Val218Ile		D3DP65|Q8WXE2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V218I	ENST00000326866.4	37	c.652	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690703	0.29962	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.35973	1.28;1.28	4.39	1.73	0.24493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.072938	0.53938	N	0.000047	T	0.16257	0.0391	N	0.04669	-0.19	0.27171	N	0.960902	B	0.21147	0.052	B	0.12837	0.008	T	0.15607	-1.0431	10	0.33141	T	0.24	.	10.7908	0.46432	0.2467:0.0:0.7533:0.0	.	218	Q96MM3	ZFP42_HUMAN	I	218	ENSP00000317686:V218I;ENSP00000424662:V218I	ENSP00000317686:V218I	V	+	1	0	ZFP42	189161607	1.000000	0.71417	0.004000	0.12327	0.009000	0.06853	6.369000	0.73109	0.106000	0.17784	-0.797000	0.03246	GTC	ZFP42	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179059		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0	24	0	G	NM_174900		188924613	1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.900	A	A	188924613	G	A	188924613	3	1	1	1	0	0	0	0	1	0	0	0	17698	1145	40	1	654	1	ZFP42	4	188924613	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	11316215	188924613	2229663	115	115											
SLC6A3	6531	genome.wustl.edu	37	chr5	1403039	1403039	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtccaaatacccacctCtcgaaaggacccaggcaggc	11	4	8	18	2	1	0	0	0	1	0	3	2	2	1	6	3	1	1	6	3	3	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:1403039C>A	ENST00000270349.9	-	13	1892	c.1765G>T	c.(1765-1767)Gag>Tag	p.E589*	SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.E589*	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	589	Interaction with TGFB1I1.				adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATACCCACCTCTCGAAAGGAC	0.637																																																	0													53	49	50					5																	1403039		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1765G>T	5.37:g.1403039C>A	ENSP00000270349:p.Glu589*		A2RUN4|Q14996	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.E589*	ENST00000270349.9	37	c.1765	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	c	37	6.597993	0.97692	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	.	.	.	4.18	3.3	0.37823	.	0.308515	0.27420	U	0.019458	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	10.2028	0.43094	0.0:0.8952:0.0:0.1048	.	.	.	.	X	589	.	ENSP00000270349:E589X	E	-	1	0	SLC6A3	1456039	1.000000	0.71417	0.985000	0.45067	0.841000	0.47740	2.529000	0.45632	1.905000	0.55150	0.298000	0.19748	GAG	SLC6A3	-	NULL	ENSG00000142319		0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0	50	0	C	NM_001044		1403039	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	A	A	1403039	C	A	1403039	4	1	1	1	0	0	0	0	0	1	0	0	14730	922	32	3	109	3	SLC6A3	5	1403039	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		1403039	179512221	116	116											
CCT5	22948	genome.wustl.edu	37	chr5	10263283	10263283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatgccatgagagcgtttgCcgacgcactggaggtcatcc	8	9	13	11	3	1	1	1	1	0	1	2	4	2	2	3	2	3	3	3	2	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:10263283C>T	ENST00000280326.4	+	10	1775	c.1355C>T	c.(1354-1356)gCc>gTc	p.A452V	CTD-2256P15.4_ENST00000606194.1_RNA|CCT5_ENST00000515676.1_Missense_Mutation_p.A414V|CCT5_ENST00000506600.1_Missense_Mutation_p.A359V|CCT5_ENST00000503026.1_Missense_Mutation_p.A431V|CCT5_ENST00000515390.1_Missense_Mutation_p.A397V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	452					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGAGCGTTTGCCGACGCACTG	0.542																																																	0													112	99	104					5																	10263283		2203	4300	6503	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.1355C>T	5.37:g.10263283C>T	ENSP00000280326:p.Ala452Val		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.A452V	ENST00000280326.4	37	c.1355	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181512	0.78677	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.93782	0.8012	H	0.98542	4.26	0.80722	D	1	P;P;B;B	0.50272	0.931;0.933;0.114;0.114	P;P;B;B	0.62184	0.899;0.527;0.256;0.256	D	0.95743	0.8785	10	0.87932	D	0	-25.2908	18.7471	0.91797	0.0:1.0:0.0:0.0	.	359;397;452;452	B4DYD8;E7ENZ3;A8K2X8;P48643	.;.;.;TCPE_HUMAN	V	452;431;397;425;414;359	ENSP00000280326:A452V;ENSP00000423318:A431V;ENSP00000426923:A397V;ENSP00000427297:A414V;ENSP00000423052:A359V	ENSP00000280326:A452V	A	+	2	0	CCT5	10316283	1.000000	0.71417	0.210000	0.23637	0.084000	0.17831	7.329000	0.79170	2.663000	0.90544	0.558000	0.71614	GCC	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.542	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	-	0	40	0	C			10263283	1	tier1	-	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	10263283	C	T	10263283	3	4	1	1	0	0	0	0	1	0	0	0	2963	739	26	3	1393	3	CCT5	5	10263283	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	8860244	10263283	170651977	117	117											
MARCH6	10299	genome.wustl.edu	37	chr5	10405769	10405769	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatatataggcatctcCgaagatttattttgtcagtg	11	15	8	7	1	2	1	1	0	1	1	3	2	2	1	2	1	1	1	2	1	6	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:10405769C>A	ENST00000274140.5	+	16	1564	c.1432C>A	c.(1432-1434)Cga>Aga	p.R478R	MARCH6_ENST00000503788.1_Silent_p.R373R|MARCH6_ENST00000510792.1_Silent_p.R176R|MARCH6_ENST00000449913.2_Silent_p.R430R	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	478					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R478*(1)|p.R478R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TAGGCATCTCCGAAGATTTAT	0.338																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(2)											111	110	110					5																	10405769		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1432C>A	5.37:g.10405769C>A			A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R478	ENST00000274140.5	37	c.1432	CCDS34135.1	5																																																																																			MARCH6	-	NULL	ENSG00000145495		0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2		0	19	0	C	NM_005885		10405769	1			no_errors	ENST00000274140	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	A	A	10405769	C	A	10405769	2	1	1	1	0	0	0	0	0	0	0	1	9343	644	23	2		2	MARCH6	5	10405769	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	142486	10405769	170509491	118	118											
PRKAA1	5562	genome.wustl.edu	37	chr5	40764855	40764855	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgttatttctttcttaccTtccattcataatccaattgt	10	20	2	9	0	3	0	1	0	2	0	5	0	5	0	3	0	1	1	3	0	5	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:40764855T>G	ENST00000397128.2	-	7	1315	c.1307A>C	c.(1306-1308)aAg>aCg	p.K436T	PRKAA1_ENST00000354209.3_Splice_Site_p.K451T	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	436					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CTTTCTTACCTTCCATTCATA	0.294																																																	0													94	85	88					5																	40764855		1827	4096	5923	SO:0001630	splice_region_variant	0				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1308+1A>C	5.37:g.40764855T>G			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K451T	ENST00000397128.2	37	c.1352	CCDS3932.2	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408239	0.83340	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.75821	-0.88;-0.97	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90618	0.4557	10	0.62326	D	0.03	-18.1641	16.2826	0.82703	0.0:0.0:0.0:1.0	.	436;451	Q13131;Q13131-2	AAPK1_HUMAN;.	T	436;451	ENSP00000380317:K436T;ENSP00000346148:K451T	ENSP00000346148:K451T	K	-	2	0	AC008810.1	40800612	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.655000	0.83696	2.307000	0.77673	0.528000	0.53228	AAG	PRKAA1	-	superfamily_KA1/Ssp2_C	ENSG00000132356		0.294	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	-	0	61	0	T	NM_006251	Missense_Mutation	40764855	-1	tier1	-	no_errors	ENST00000354209	ensembl	human	known	74_37	missense	31.25	33	15	SNP	1.000	G	G	40764855	T	G	40764855	5	3	1	1	0	0	0	0	0	0	1	0	12535	1623	56	4	384	4	PRKAA1	5	40764855	Splice_Site	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	30359086	40764855	140150405	119	119											
C5orf34	375444	genome.wustl.edu	37	chr5	43494614	43494614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgggaagaacttacctTgttgcctgtttaattagaga	12	14	10	5	0	0	3	0	1	0	2	0	5	0	4	2	1	3	2	2	1	6	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:43494614T>C	ENST00000306862.2	-	7	1617	c.1242A>G	c.(1240-1242)acA>acG	p.T414T	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	414										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GAACTTACCTTGTTGCCTGTT	0.363																																																	0													88	86	86					5																	43494614		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1242A>G	5.37:g.43494614T>C				Silent	SNP	NULL	p.T414	ENST00000306862.2	37	c.1242	CCDS3946.1	5																																																																																			C5orf34	-	NULL	ENSG00000172244		0.363	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	-	0	51	0	T	NM_198566		43494614	-1	tier1	-	no_errors	ENST00000306862	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.912	C	C	43494614	T	C	43494614	2	2	1	1	0	0	0	0	0	0	0	1	2300	1799	63	4		4	C5orf34	5	43494614	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	2729759	43494614	137420646	120	120											
HTR1A	3350	genome.wustl.edu	37	chr5	63256866	63256866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctttttgaccgtcttGcggatgcggaagcgcgcagc	6	10	12	13	5	1	1	0	1	1	0	2	3	2	3	3	2	4	1	3	2	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:63256866G>A	ENST00000323865.3	-	1	914	c.681C>T	c.(679-681)cgC>cgT	p.R227R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	227					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGACCGTCTTGCGGATGCGGA	0.582																																																	0													68	76	73					5																	63256866		2203	4299	6502	SO:0001819	synonymous_variant	0			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.681C>T	5.37:g.63256866G>A			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.R227	ENST00000323865.3	37	c.681	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt	ENSG00000178394		0.582	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1		0	27	0	G	NM_000524		63256866	-1			no_errors	ENST00000323865	ensembl	human	known	74_37	silent	28.57	15	6	SNP	1.000	A	A	63256866	G	A	63256866	2	1	1	1	0	0	0	0	0	0	0	1	7463	1306	46	3		3	HTR1A	5	63256866	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	19762252	63256866	117658394	121	121											
SGTB	54557	genome.wustl.edu	37	chr5	64981212	64981212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccattctcccataggcCttgctgtactttgaatcaat	9	14	5	13	0	2	1	1	1	1	0	3	1	2	1	4	1	3	2	4	1	5	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:64981212C>T	ENST00000381007.4	-	6	697	c.462G>A	c.(460-462)aaG>aaA	p.K154K		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	154										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		TCCCATAGGCCTTGCTGTACT	0.423																																																	0													252	216	228					5																	64981212		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"Tetratricopeptide (TTC) repeat domain containing"	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.462G>A	5.37:g.64981212C>T				Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K154	ENST00000381007.4	37	c.462	CCDS3988.1	5																																																																																			SGTB	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000197860		0.423	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTB	HGNC	protein_coding	OTTHUMT00000215057.2	-	0	65	0	C	NM_019072		64981212	-1	tier1	-	no_errors	ENST00000381007	ensembl	human	known	74_37	silent	36.21	37	21	SNP	1.000	T	T	64981212	C	T	64981212	2	4	1	1	0	0	0	0	0	0	0	1	14271	680	24	3		3	SGTB	5	64981212	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1724346	64981212	115934048	122	122											
BDP1	55814	genome.wustl.edu	37	chr5	70808097	70808097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaagtactgtcgatgatGcatacacctgtagaagaaaa	16	9	10	6	1	0	4	0	2	0	2	1	5	0	4	1	0	3	3	1	0	7	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:70808097G>T	ENST00000358731.4	+	18	4352	c.4089G>T	c.(4087-4089)atG>atT	p.M1363I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1363					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTCGATGATGCATACACCTG	0.303																																																	0													84	83	83					5																	70808097		1815	4077	5892	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.4089G>T	5.37:g.70808097G>T	ENSP00000351575:p.Met1363Ile		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.M1363I	ENST00000358731.4	37	c.4089	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536144	0.27475	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.08546	3.08	4.25	-3.7	0.04437	.	0.478743	0.17563	N	0.169749	T	0.03095	0.0091	N	0.19112	0.55	0.21020	N	0.999802	B;B	0.13145	0.003;0.007	B;B	0.14023	0.001;0.01	T	0.41627	-0.9498	10	0.12430	T	0.62	.	1.4304	0.02332	0.1746:0.1251:0.3207:0.3795	.	1363;1363	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	I	1363;943	ENSP00000351575:M1363I	ENSP00000351575:M1363I	M	+	3	0	BDP1	70843853	0.000000	0.05858	0.000000	0.03702	0.443000	0.32047	-0.422000	0.07043	-0.615000	0.05679	0.655000	0.94253	ATG	BDP1	-	NULL	ENSG00000145734		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0	76	0	G	NM_018429		70808097	1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	70808097	G	T	70808097	3	4	1	1	0	0	0	0	1	0	0	0	1396	1319	46	3	4159	3	BDP1	5	70808097	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5826885	70808097	110107163	123	123											
BDP1	55814	genome.wustl.edu	37	chr5	70860608	70860608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatcagcccttactgaaaGaaggatataaaagtgcccaa	16	8	9	8	0	1	3	1	2	0	1	1	4	1	4	2	1	3	0	2	1	7	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:70860608G>A	ENST00000358731.4	+	39	8034	c.7771G>A	c.(7771-7773)Gaa>Aaa	p.E2591K	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2591					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CTTACTGAAAGAAGGATATAA	0.333																																																	0													97	96	96					5																	70860608		1784	4061	5845	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7771G>A	5.37:g.70860608G>A	ENSP00000351575:p.Glu2591Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E2591K	ENST00000358731.4	37	c.7771	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628837	0.46944	.	.	ENSG00000145734	ENST00000358731	T	0.10192	2.9	5.58	4.72	0.59763	.	0.215475	0.32785	N	0.005647	T	0.12433	0.0302	L	0.53249	1.67	0.80722	D	1	P	0.40731	0.728	B	0.40256	0.324	T	0.04781	-1.0927	10	0.36615	T	0.2	.	10.4142	0.44311	0.0896:0.0:0.9104:0.0	.	2591	A6H8Y1	BDP1_HUMAN	K	2591	ENSP00000351575:E2591K	ENSP00000351575:E2591K	E	+	1	0	BDP1	70896364	1.000000	0.71417	0.617000	0.29091	0.113000	0.19764	3.263000	0.51546	1.372000	0.46190	-0.192000	0.12808	GAA	BDP1	-	NULL	ENSG00000145734		0.333	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0	63	0	G	NM_018429		70860608	1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	23.08	29	9	SNP	0.858	A	A	70860608	G	A	70860608	3	1	1	1	0	0	0	0	1	0	0	0	1396	943	33	3	7925	3	BDP1	5	70860608	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	52511	70860608	110054652	124	124											
ANKRD34B	340120	genome.wustl.edu	37	chr5	79854965	79854965	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaatgctttggtgcctagTgatgaaccgcttggaaagtg	10	12	12	7	1	1	2	1	2	0	0	1	3	1	3	2	2	3	2	2	2	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:79854965T>C	ENST00000338682.3	-	5	1546	c.874A>G	c.(874-876)Act>Gct	p.T292A		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	292						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TGGTGCCTAGTGATGAACCGC	0.433																																																	0													83	82	82					5																	79854965		2203	4300	6503	SO:0001583	missense	0				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.874A>G	5.37:g.79854965T>C	ENSP00000339802:p.Thr292Ala		B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T292A	ENST00000338682.3	37	c.874	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	T	14.44	2.534892	0.45073	.	.	ENSG00000189127	ENST00000338682	T	0.19806	2.12	5.96	5.96	0.96718	.	0.080339	0.49916	D	0.000135	T	0.18800	0.0451	L	0.50919	1.6	0.43729	D	0.996219	P	0.39748	0.686	B	0.28305	0.088	T	0.02275	-1.1184	10	0.41790	T	0.15	-17.1769	15.2834	0.73806	0.0:0.0:0.0:1.0	.	292	A5PLL1	AN34B_HUMAN	A	292	ENSP00000339802:T292A	ENSP00000339802:T292A	T	-	1	0	ANKRD34B	79890721	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	4.017000	0.57167	2.285000	0.76669	0.533000	0.62120	ACT	ANKRD34B	-	NULL	ENSG00000189127		0.433	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1		0	30	0	T	NM_001004441		79854965	-1			no_errors	ENST00000338682	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	C	C	79854965	T	C	79854965	3	2	1	1	0	0	0	0	1	0	0	0	663	1696	59	4	674	4	ANKRD34B	5	79854965	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	8994357	79854965	101060295	125	125											
EDIL3	10085	genome.wustl.edu	37	chr5	83356228	83356228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacatgtccatgttgagcGttctgaagatgctggaggca	10	11	13	7	1	1	4	0	3	1	1	2	5	2	5	1	2	3	4	1	2	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:83356228G>A	ENST00000296591.5	-	9	1446	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	EDIL3_ENST00000380138.3_Missense_Mutation_p.T333M|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	343	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.T343M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CATGTTGAGCGTTCTGAAGAT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											146	131	136					5																	83356228		2203	4300	6503	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1028C>T	5.37:g.83356228G>A	ENSP00000296591:p.Thr343Met		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T343M	ENST00000296591.5	37	c.1028	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216198	0.79352	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98264	-4.83;-4.83	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.998	P;D;D	0.87578	0.715;0.998;0.962	D	0.99814	1.1043	10	0.87932	D	0	-23.5323	20.422	0.99049	0.0:0.0:1.0:0.0	.	120;333;343	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	M	343;333	ENSP00000296591:T343M;ENSP00000369483:T333M	ENSP00000296591:T343M	T	-	2	0	EDIL3	83391984	1.000000	0.71417	0.961000	0.40146	0.547000	0.35210	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	ACG	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0	69	0	G	NM_005711		83356228	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	A	A	83356228	G	A	83356228	3	1	1	1	0	0	0	0	1	0	0	0	4929	1145	40	1	426	1	EDIL3	5	83356228	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3501263	83356228	97559032	126	126											
C5orf36	285600	genome.wustl.edu	37	chr5	93856418	93856418	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcactaagaagcgtcGaagatgcagtcttatatcat	12	13	8	8	2	3	2	2	0	1	2	4	3	3	2	0	0	3	2	0	0	5	4	rs368289292		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:93856418G>T	ENST00000329378.7	-	5	754	c.505C>A	c.(505-507)Cga>Aga	p.R169R	KIAA0825_ENST00000312498.7_Silent_p.R169R|KIAA0825_ENST00000513200.3_Silent_p.R169R|KIAA0825_ENST00000427991.2_Silent_p.R169R	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	169								p.R169*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAGAAGCGTCGAAGATGCAGT	0.348																																																	2	Substitution - Nonsense(2)	large_intestine(2)											86	85	86					5																	93856418		2203	4299	6502	SO:0001819	synonymous_variant	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.505C>A	5.37:g.93856418G>T			O94914|Q6ZNN2	Silent	SNP	NULL	p.R169	ENST00000329378.7	37	c.505	CCDS4070.1	5																																																																																			KIAA0825	-	NULL	ENSG00000185261		0.348	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2		0	30	0	G	NM_173665		93856418	-1			no_errors	ENST00000427991	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T	T	93856418	G	T	93856418	2	4	1	1	0	0	0	0	0	0	0	1	2302	1066	37	2		2	C5orf36	5	93856418	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	10500190	93856418	87058842	127	127											
WDR36	134430	genome.wustl.edu	37	chr5	110459844	110459844	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttttggctcaaaaatcAgatttctgcttgaaacttga	12	14	9	6	0	3	3	2	2	1	1	3	4	3	4	0	2	2	3	0	2	3	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:110459844A>C	ENST00000513710.2	+	21	2479	c.2475A>C	c.(2473-2475)tcA>tcC	p.S825S	WDR36_ENST00000506538.2_Silent_p.S825S			Q8NI36	WDR36_HUMAN	WD repeat domain 36	825					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTCAAAAATCAGATTTCTGCT	0.254																																																	0													70	77	74					5																	110459844		2200	4290	6490	SO:0001819	synonymous_variant	0			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2475A>C	5.37:g.110459844A>C			A2RUS4|Q68E02|Q8N1Q2	Silent	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S825	ENST00000513710.2	37	c.2475	CCDS4102.1	5																																																																																			WDR36	-	pfam_SSU_processome_Utp21	ENSG00000134987		0.254	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	-	0	76	0	A	NM_139281		110459844	1	tier1	-	no_errors	ENST00000506538	ensembl	human	known	74_37	silent	17.28	67	14	SNP	1.000	C	C	110459844	A	C	110459844	2	2	1	1	0	0	0	0	0	0	0	1	17339	175	7	4		4	WDR36	5	110459844	Silent	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	16603426	110459844	70455416	128	128											
HSD17B4	3295	genome.wustl.edu	37	chr5	118824941	118824941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttgtcctttggctttGtcacgagagttgtgaggaga	7	14	12	8	1	2	3	1	1	1	2	3	5	3	3	2	2	0	2	2	2	0	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:118824941G>A	ENST00000256216.6	+	9	810	c.677G>A	c.(676-678)tGt>tAt	p.C226Y	HSD17B4_ENST00000414835.2_Missense_Mutation_p.C86Y|HSD17B4_ENST00000510025.1_Missense_Mutation_p.C202Y|HSD17B4_ENST00000504811.1_Missense_Mutation_p.C251Y|HSD17B4_ENST00000515320.1_Missense_Mutation_p.C208Y|HSD17B4_ENST00000513628.1_Missense_Mutation_p.C89Y|HSD17B4_ENST00000509514.1_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	226	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		CTTTGGCTTTGTCACGAGAGT	0.378																																					Colon(35;490 801 34689 41394 43344)												0													222	215	218					5																	118824941		2202	4300	6502	SO:0001583	missense	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.677G>A	5.37:g.118824941G>A	ENSP00000256216:p.Cys226Tyr		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.C226Y	ENST00000256216.6	37	c.677	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906273	0.72868	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96670	0.8913	H	0.96777	3.88	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.997;1.0	D;D;P;D	0.69142	0.962;0.927;0.905;0.927	D	0.97309	0.9936	10	0.87932	D	0	-14.3036	20.0189	0.97489	0.0:0.0:1.0:0.0	.	251;208;202;226	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	Y	226;208;202;251;86;89	ENSP00000256216:C226Y;ENSP00000424613:C208Y;ENSP00000424940:C202Y;ENSP00000420914:C251Y;ENSP00000411960:C86Y;ENSP00000425993:C89Y	ENSP00000256216:C226Y	C	+	2	0	HSD17B4	118852840	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	9.643000	0.98464	2.834000	0.97654	0.650000	0.86243	TGT	HSD17B4	-	prints_Glc/ribitol_DH	ENSG00000133835		0.378	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	-	0	90	0	G	NM_000414		118824941	1	tier1	-	no_errors	ENST00000256216	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	A	A	118824941	G	A	118824941	3	1	1	1	0	0	0	0	1	0	0	0	7413	1377	48	3	711	3	HSD17B4	5	118824941	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	8365097	118824941	62090319	129	129											
FBN2	2201	genome.wustl.edu	37	chr5	127654614	127654614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaattcataaccatcatcGcagatgcaatgaaacattcc	15	10	4	12	1	2	2	2	1	0	1	5	2	4	2	3	0	3	2	3	0	4	3	rs144018137		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:127654614G>A	ENST00000508053.1	-	41	5525	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	FBN2_ENST00000262464.4_Silent_p.C1517C			P35556	FBN2_HUMAN	fibrillin 2	1517	EGF-like 25; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C1517C(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACCATCATCGCAGATGCAAT	0.373																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	113	106	108		4551	-5.1	1	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN2	NM_001999.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1517/2913	127654614	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4551C>T	5.37:g.127654614G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C1517	ENST00000508053.1	37	c.4551	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.373	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	42	0	G	NM_001999		127654614	-1	tier1	rs144018137	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	45.71	19	16	SNP	0.907	A	A	127654614	G	A	127654614	2	1	1	1	0	0	0	0	0	0	0	1	5725	1079	38	1		1	FBN2	5	127654614	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	8829673	127654614	53260646	130	130											
FSTL4	23105	genome.wustl.edu	37	chr5	132534840	132534840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctttatacctgacacctCacaccgcagcgtgttttgtc	7	12	6	16	2	1	1	1	1	0	0	2	1	1	1	5	0	2	2	5	0	2	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:132534840C>T	ENST00000265342.7	-	16	2725	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	826						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTGACACCTCACACCGCAGC	0.577																																																	0													68	65	66					5																	132534840		2203	4300	6503	SO:0001583	missense	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2476G>A	5.37:g.132534840C>T	ENSP00000265342:p.Glu826Lys		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.E826K	ENST00000265342.7	37	c.2476	CCDS34238.1	5	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387036	0.61956	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.62105	0.05	5.24	5.24	0.73138	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.82323	2.585	0.80722	D	1	P;D	0.58970	0.926;0.984	P;P	0.51487	0.526;0.671	T	0.80480	-0.1364	10	0.87932	D	0	-33.8418	17.4006	0.87459	0.0:1.0:0.0:0.0	.	826;475	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	K	826;657	ENSP00000265342:E826K	ENSP00000265342:E826K	E	-	1	0	FSTL4	132562739	1.000000	0.71417	0.975000	0.42487	0.211000	0.24417	5.774000	0.68906	2.446000	0.82766	0.650000	0.86243	GAG	FSTL4	-	pfscan_Ig-like_dom	ENSG00000053108		0.577	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	-	0	52	0	C	XM_048786		132534840	-1	tier1	-	no_errors	ENST00000265342	ensembl	human	known	74_37	missense	64.86	13	24	SNP	1.000	T	T	132534840	C	T	132534840	3	4	1	1	0	0	0	0	1	0	0	0	6103	835	29	3	56	3	FSTL4	5	132534840	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4880226	132534840	48380420	131	131											
KDM3B	51780	genome.wustl.edu	37	chr5	137727488	137727488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctgccatggggaatGgccgctccagctcgcccacc	5	7	11	18	2	1	0	0	0	1	0	4	1	2	1	6	3	2	2	6	3	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:137727488G>A	ENST00000314358.5	+	8	2367	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	KDM3B_ENST00000394866.1_Missense_Mutation_p.G379S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	723	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CATGGGGAATGGCCGCTCCAG	0.597																																																	0													47	55	52					5																	137727488		2198	4299	6497	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2167G>A	5.37:g.137727488G>A	ENSP00000326563:p.Gly723Ser		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G723S	ENST00000314358.5	37	c.2167	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646027	0.67358	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.70869	0.11;-0.52	5.42	5.42	0.78866	.	0.061246	0.64402	D	0.000005	T	0.72590	0.3479	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.68739	-0.5329	10	0.18276	T	0.48	-14.1307	19.1662	0.93559	0.0:0.0:1.0:0.0	.	379;723	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	723;513;379	ENSP00000326563:G723S;ENSP00000378335:G379S	ENSP00000326563:G723S	G	+	1	0	KDM3B	137755387	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.523000	0.81856	2.694000	0.91930	0.655000	0.94253	GGC	KDM3B	-	NULL	ENSG00000120733		0.597	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	27	0	G	NM_016604		137727488	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	71.43	10	25	SNP	1.000	A	A	137727488	G	A	137727488	3	1	1	1	0	0	0	0	1	0	0	0	8154	1348	47	3	2197	3	KDM3B	5	137727488	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5192648	137727488	43187772	132	132											
ZMAT2	153527	genome.wustl.edu	37	chr5	140080056	140080056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctgtgaagatggcgtcggGcagcggggtaggtgttgtgt	5	10	20	6	4	0	2	0	1	0	1	1	2	0	2	0	5	1	4	0	5	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140080056G>T	ENST00000274712.3	+	1	138	c.11G>T	c.(10-12)gGc>gTc	p.G4V		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	4						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGCGTCGGGCAGCGGGGTA	0.547																																																	0													140	146	144					5																	140080056		2203	4300	6503	SO:0001583	missense	0			AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"Zinc fingers, matrin-type"	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.11G>T	5.37:g.140080056G>T	ENSP00000274712:p.Gly4Val			Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,pfam_Znf_U1-C,smart_Znf_U1	p.G4V	ENST00000274712.3	37	c.11	CCDS4239.1	5	.	.	.	.	.	.	.	.	.	.	g	20.8	4.057076	0.76074	.	.	ENSG00000146007	ENST00000274712	.	.	.	5.43	5.43	0.79202	.	0.233910	0.44902	D	0.000414	T	0.51669	0.1688	N	0.22421	0.69	0.80722	D	1	B	0.18013	0.025	B	0.18561	0.022	T	0.45991	-0.9223	9	0.49607	T	0.09	-5.7252	17.9788	0.89134	0.0:0.0:1.0:0.0	.	4	Q96NC0	ZMAT2_HUMAN	V	4	.	ENSP00000274712:G4V	G	+	2	0	ZMAT2	140060240	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.919000	0.87513	2.827000	0.97445	0.650000	0.86243	GGC	ZMAT2	-	NULL	ENSG00000146007		0.547	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT2	HGNC	protein_coding	OTTHUMT00000468143.1	-	0	66	0	G	NM_144723		140080056	1	tier1	-	no_errors	ENST00000274712	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	140080056	G	T	140080056	3	4	1	1	0	0	0	0	1	0	0	0	17740	1203	42	3	13	3	ZMAT2	5	140080056	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2352568	140080056	40835204	133	133											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140740924	140740924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacaaactagtgacagacGgcgctctggaccgggaggag	12	6	14	9	3	1	2	0	1	1	1	1	5	1	5	1	4	2	1	1	4	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140740924G>A	ENST00000522605.1	+	1	1222	c.1222G>A	c.(1222-1224)Ggc>Agc	p.G408S	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGACAGACGGCGCTCTGGA	0.493																																																	0													73	81	78					5																	140740924		1981	4144	6125	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1222G>A	5.37:g.140740924G>A	ENSP00000429018:p.Gly408Ser		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G408S	ENST00000522605.1	37	c.1222	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	3.181	-0.167800	0.06461	.	.	ENSG00000253910	ENST00000522605	T	0.50813	0.73	5.3	-10.4	0.00318	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31136	0.0787	L	0.38531	1.155	0.09310	N	1	P;P	0.40197	0.508;0.706	B;B	0.40066	0.213;0.318	T	0.24083	-1.0170	9	0.26408	T	0.33	.	10.7179	0.46023	0.7064:0.1306:0.163:0.0	.	408;408	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	S	408	ENSP00000429018:G408S	ENSP00000429018:G408S	G	+	1	0	PCDHGB2	140721108	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.041000	0.03542	-2.040000	0.00916	-0.302000	0.09304	GGC	PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253910		0.493	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	-	0	24	0	G	NM_018923		140740924	1	tier1	-	no_errors	ENST00000522605	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.000	A	A	140740924	G	A	140740924	3	1	1	1	0	0	0	0	1	0	0	0	11602	1116	39	1	1224	1	PCDHGB2	5	140740924	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	660868	140740924	40174336	134	134											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741818	140741818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtgctcttcttcctcGcggtgattctggcaatctcc	4	15	8	14	2	5	1	1	1	5	0	9	1	6	1	2	2	1	2	2	2	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140741818G>T	ENST00000522605.1	+	1	2116	c.2116G>T	c.(2116-2118)Gcg>Tcg	p.A706S	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	706					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTCCTCGCGGTGATTCT	0.597																																																	0													93	96	95					5																	140741818		2040	4191	6231	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2116G>T	5.37:g.140741818G>T	ENSP00000429018:p.Ala706Ser		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A706S	ENST00000522605.1	37	c.2116	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	7.921	0.738617	0.15642	.	.	ENSG00000253910	ENST00000522605	T	0.10860	2.83	4.96	1.58	0.23477	.	.	.	.	.	T	0.04770	0.0129	N	0.16743	0.435	0.09310	N	1	B;B	0.31655	0.149;0.334	B;B	0.27500	0.08;0.056	T	0.39901	-0.9591	9	0.18276	T	0.48	.	2.2254	0.03982	0.3973:0.0:0.3741:0.2285	.	706;706	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	S	706	ENSP00000429018:A706S	ENSP00000429018:A706S	A	+	1	0	PCDHGB2	140722002	0.000000	0.05858	0.018000	0.16275	0.403000	0.30841	-0.221000	0.09202	0.586000	0.29626	0.461000	0.40582	GCG	PCDHGB2	-	NULL	ENSG00000253910		0.597	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1		0	49	0	G	NM_018923		140741818	1			no_errors	ENST00000522605	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.025	T	T	140741818	G	T	140741818	3	4	1	1	0	0	0	0	1	0	0	0	11602	1087	38	2	2118	2	PCDHGB2	5	140741818	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	894	140741818	40173442	135	135											
PCDHGA12	26025	genome.wustl.edu	37	chr5	140812168	140812168	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaaggccagcgagccGggactcttctcggtgggtct	5	9	14	13	3	4	0	1	0	3	0	5	2	4	1	2	4	3	1	2	4	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:140812168G>T	ENST00000252085.3	+	1	1984	c.1842G>T	c.(1840-1842)ccG>ccT	p.P614P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	614	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCGAGCCGGGACTCTTCT	0.687																																																	0													30	37	35					5																	140812168		2194	4277	6471	SO:0001819	synonymous_variant	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1842G>T	5.37:g.140812168G>T			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P614	ENST00000252085.3	37	c.1842	CCDS4260.1	5																																																																																			PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253159		0.687	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	-	0	149	0	G	NM_003735		140812168	1	tier1	-	no_errors	ENST00000252085	ensembl	human	known	74_37	silent	22.58	120	35	SNP	0.019	T	T	140812168	G	T	140812168	2	4	1	1	0	0	0	0	0	0	0	1	11592	1103	39	2		2	PCDHGA12	5	140812168	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	70350	140812168	40103092	136	136											
RBM27	54439	genome.wustl.edu	37	chr5	145608578	145608578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctagtccccagaagactCgttcagaatctagtgaacga	13	9	8	11	2	2	4	1	1	1	3	5	5	4	4	3	0	1	1	3	0	5	3	rs199578137		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:145608578C>T	ENST00000265271.5	+	4	539	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	RBM27_ENST00000506502.1_Missense_Mutation_p.R125C	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	125					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGAAGACTCGTTCAGAATC	0.368																																																	0								C	CYS/ARG	0,3136		0,0,1568	147	144	145		373	4.6	1	5		145	1,7163		0,1,3581	no	missense	RBM27	NM_018989.1	180	0,1,5149	TT,TC,CC		0.014,0.0,0.0097	probably-damaging	125/1061	145608578	1,10299	1568	3582	5150	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.373C>T	5.37:g.145608578C>T	ENSP00000265271:p.Arg125Cys		Q8IYW9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R125C	ENST00000265271.5	37	c.373	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146650	0.77888	0.0	1.4E-4	ENSG00000091009	ENST00000265271	T	0.54479	0.57	5.56	4.63	0.57726	.	0.245457	0.35772	N	0.002990	T	0.50905	0.1643	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.69078	0.997;0.995	P;P	0.47162	0.535;0.54	T	0.56998	-0.7886	10	0.66056	D	0.02	-5.5519	15.8759	0.79162	0.0:0.8644:0.1356:0.0	.	125;125	Q9P2N5;B3KY61	RBM27_HUMAN;.	C	125	ENSP00000265271:R125C	ENSP00000265271:R125C	R	+	1	0	RBM27	145588771	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.099000	0.57755	2.609000	0.88269	0.591000	0.81541	CGT	RBM27	-	NULL	ENSG00000091009		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0	42	0	C	XM_291128		145608578	1	tier1	rs199578137	no_errors	ENST00000265271	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	145608578	C	T	145608578	3	4	1	1	0	0	0	0	1	0	0	0	13172	884	31	1	387	1	RBM27	5	145608578	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4796410	145608578	35306682	137	137											
PDE6A	5145	genome.wustl.edu	37	chr5	149323840	149323840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgtccaaagggaagaCgatctcttggtcgggcatca	10	8	12	11	2	2	1	1	0	1	1	5	3	3	2	2	3	0	1	2	3	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:149323840C>T	ENST00000255266.5	-	1	516	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	133	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.V133I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AAAGGGAAGACGATCTCTTGG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											143	124	131					5																	149323840		2203	4300	6503	SO:0001583	missense	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.397G>A	5.37:g.149323840C>T	ENSP00000255266:p.Val133Ile		Q0P638	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.V133I	ENST00000255266.5	37	c.397	CCDS4299.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588398	0.86851	.	.	ENSG00000132915	ENST00000255266	T	0.69806	-0.43	5.26	5.26	0.73747	GAF (2);	0.000000	0.85682	D	0.000000	T	0.80869	0.4706	M	0.74546	2.27	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.78290	-0.2261	10	0.30078	T	0.28	.	16.7244	0.85417	0.0:1.0:0.0:0.0	.	133	P16499	PDE6A_HUMAN	I	133	ENSP00000255266:V133I	ENSP00000255266:V133I	V	-	1	0	PDE6A	149304033	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.772000	0.85439	2.616000	0.88540	0.561000	0.74099	GTC	PDE6A	-	pfam_GAF,smart_GAF	ENSG00000132915		0.567	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	-	0	34	0	C			149323840	-1	tier1	-	no_errors	ENST00000255266	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T	T	149323840	C	T	149323840	3	4	1	1	0	0	0	0	1	0	0	0	11684	536	19	1	2273	1	PDE6A	5	149323840	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	3715262	149323840	31591420	138	138											
SLC36A3	285641	genome.wustl.edu	37	chr5	150672926	150672926	+	Splice_Site	DEL	T	T	-																															caacatctgtgactactaccTtccccacactgcatgggccc																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:150672926delT	ENST00000335230.3	-	4	814	c.403delA	c.(403-405)agg>gg	p.R135fs	SLC36A3_ENST00000377713.3_Splice_Site_p.R135fs	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	135						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACTACTACCTTCCCCACACT	0.428																																																	0													94	78	83					5																	150672926		2203	4300	6503	SO:0001630	splice_region_variant	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.404+1A>-	5.37:g.150672926delT			Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Frame_Shift_Del	DEL	pfam_AA_transpt_TM	p.R135fs	ENST00000335230.3	37	c.403	CCDS4314.1	5																																																																																			SLC36A3	-	pfam_AA_transpt_TM	ENSG00000186334		0.428	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1		0	26	0	T	NM_181774	Frame_Shift_Del	150672926	-1	tier1		no_errors	ENST00000377713	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000	-	-	150672926	T	-	150672926	8	5	1	1	0	1	0	1	0	0	1	0	14640	1623	56	0	1164	0	SLC36A3	5	150672926	Splice_Site	DEL	T	TCGA-2H-A9GF-01A-11D-A37C-09	1349086	150672926	30242334	139	139											
ITK	3702	genome.wustl.edu	37	chr5	156649893	156649893	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaccactttgggaacctgaAgaaactgtggtcattgcctt	10	11	10	10	1	1	2	1	1	0	1	1	4	1	3	3	2	3	0	3	2	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:156649893A>C	ENST00000422843.3	+	6	668	c.516A>C	c.(514-516)gaA>gaC	p.E172D	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	172	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.			PE -> GS (in Ref. 6; AA sequence). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	GGGAACCTGAAGAAACTGTGG	0.488			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													92	88	89					5																	156649893		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.516A>C	5.37:g.156649893A>C	ENSP00000398655:p.Glu172Asp		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E172D	ENST00000422843.3	37	c.516	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819595	0.32145	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;T	0.90261	-2.64;-0.99	5.81	2.01	0.26516	Src homology-3 domain (1);	0.481200	0.23234	N	0.050424	D	0.82277	0.5002	L	0.39566	1.225	0.43076	D	0.994721	B	0.06786	0.001	B	0.06405	0.002	T	0.68708	-0.5337	10	0.28530	T	0.3	.	3.6473	0.08189	0.6467:0.0:0.1949:0.1584	.	172	Q08881	ITK_HUMAN	D	47;172	ENSP00000430327:E47D;ENSP00000398655:E172D	ENSP00000398655:E172D	E	+	3	2	ITK	156582471	0.972000	0.33761	0.892000	0.35008	0.462000	0.32619	-0.002000	0.12924	0.100000	0.17581	0.482000	0.46254	GAA	ITK	-	pfscan_SH3_domain	ENSG00000113263		0.488	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	46	0	A			156649893	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.999	C	C	156649893	A	C	156649893	3	2	1	1	0	0	0	0	1	0	0	0	7936	69	3	4	538	4	ITK	5	156649893	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	5976967	156649893	24265367	140	140											
RNF145	153830	genome.wustl.edu	37	chr5	158634791	158634791	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacataaactactagcaattCtgtggtttctcatcatctcc	11	14	4	12	0	4	0	2	0	3	0	6	0	4	0	1	1	3	2	1	1	5	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:158634791C>T	ENST00000424310.2	-	1	321				RNF145_ENST00000521606.2_Intron|RNF145_ENST00000519865.1_Intron|RNF145_ENST00000520638.1_5'Flank|CTB-11I22.1_ENST00000521204.1_RNA|RNF145_ENST00000518802.1_Intron|RNF145_ENST00000274542.2_Missense_Mutation_p.R6K	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTAGCAATTCTGTGGTTTCT	0.423																																																	0													297	294	295					5																	158634791		2203	4300	6503	SO:0001627	intron_variant	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.38+1447G>A	5.37:g.158634791C>T			B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.R6K	ENST00000424310.2	37	c.17	CCDS56390.1	5	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547170	0.45383	.	.	ENSG00000145860	ENST00000274542	T	0.77229	-1.08	3.87	2.99	0.34606	.	.	.	.	.	T	0.67069	0.2854	.	.	.	0.23969	N	0.996317	B	0.09022	0.002	B	0.04013	0.001	T	0.59931	-0.7361	8	0.87932	D	0	0.2167	7.347	0.26668	0.0:0.8784:0.0:0.1216	.	6	Q96MT1-2	.	K	6	ENSP00000274542:R6K	ENSP00000274542:R6K	R	-	2	0	RNF145	158567369	0.035000	0.19736	0.012000	0.15200	0.959000	0.62525	1.652000	0.37313	0.964000	0.38108	0.561000	0.74099	AGA	RNF145	-	NULL	ENSG00000145860		0.423	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	-	0	81	0	C	NM_144726		158634791	-1	tier1	-	no_errors	ENST00000274542	ensembl	human	known	74_37	missense	49.12	29	28	SNP	0.193	T	T	158634791	C	T	158634791	1	4	1	0	1	0	0	0	0	0	0	0	13492	913	32	3		3	RNF145	5	158634791	Intron	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1984898	158634791	22280469	141	141											
C5orf54	63920	genome.wustl.edu	37	chr5	159821727	159821727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatctcttttttcacgtaGgcaacaaactcggaattttc	10	15	7	9	2	2	0	1	0	1	0	5	1	2	1	0	3	2	3	0	3	5	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:159821727G>T	ENST00000408953.3	-	2	1278	c.771C>A	c.(769-771)gcC>gcA	p.A257A	C5orf54_ENST00000523213.1_Silent_p.A257A	NM_022090.3	NP_071373.2														breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ttttcacgtaggcaacaaact	0.403																																																	0													137	130	133					5																	159821727		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000408953.3:c.771C>A	5.37:g.159821727G>T				Silent	SNP	superfamily_RNaseH-like_dom	p.A257	ENST00000408953.3	37	c.771	CCDS34283.1	5																																																																																			C5orf54	-	superfamily_RNaseH-like_dom	ENSG00000221886		0.403	C5orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf54	HGNC	protein_coding	OTTHUMT00000374143.1		0	33	0	G			159821727	-1			no_errors	ENST00000408953	ensembl	human	known	74_37	silent	8.33	22	2	SNP	0.981	T	T	159821727	G	T	159821727	2	4	1	1	0	0	0	0	0	0	0	1	2317	987	35	3		3	C5orf54	5	159821727	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1186936	159821727	21093533	142	142											
HMMR	3161	genome.wustl.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A																															aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																																	0																																										SO:0001589	frameshift_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	NULL	p.Q667fs	ENST00000358715.3	37	c.1992_1993	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1		0	46	0	-	NM_012484		162917426	1	tier1		no_errors	ENST00000393915	ensembl	human	known	74_37	frame_shift_ins	10.64	42	5	INS	0.976:1.000	A	A	162917426	-	A	162917425	7	5	1	1	0	1	1	0	0	0	0	0	7269	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-2H-A9GF-01A-11D-A37C-09	3095698	162917425	17997835	143	143											
SLIT3	6586	genome.wustl.edu	37	chr5	168201289	168201289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccccttgctgatggtctGcagcttgttgtcatacaggg	6	12	13	10	0	2	1	1	1	1	0	2	2	2	1	2	2	5	4	2	2	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:168201289G>T	ENST00000519560.1	-	13	1665	c.1246C>A	c.(1246-1248)Cag>Aag	p.Q416K	SLIT3_ENST00000404867.3_Missense_Mutation_p.Q416K|SLIT3_ENST00000332966.8_Missense_Mutation_p.Q416K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	416					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGATGGTCTGCAGCTTGTTG	0.577																																					Ovarian(29;311 847 10864 17279 24903)												0													224	212	216					5																	168201289		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1246C>A	5.37:g.168201289G>T	ENSP00000430333:p.Gln416Lys		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q416K	ENST00000519560.1	37	c.1246	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.122387	0.94429	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.23552	1.9;1.9;1.9	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.37812	0.1017	N	0.16790	0.44	0.80722	D	1	D;D;D	0.65815	0.99;0.987;0.995	D;P;D	0.91635	0.973;0.886;0.999	T	0.24835	-1.0149	10	0.42905	T	0.14	.	19.4314	0.94768	0.0:0.0:1.0:0.0	.	416;416;416	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	K	416	ENSP00000430333:Q416K;ENSP00000332164:Q416K;ENSP00000384890:Q416K	ENSP00000332164:Q416K	Q	-	1	0	SLIT3	168133867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.588000	0.87417	0.650000	0.86243	CAG	SLIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184347		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	60	0	G	NM_003062		168201289	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	168201289	G	T	168201289	3	4	1	1	0	0	0	0	1	0	0	0	14786	1328	46	3	3421	3	SLIT3	5	168201289	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5283864	168201289	12713971	144	144											
HRH2	3274	genome.wustl.edu	37	chr5	175111043	175111043	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgccatcaatgaggtgttAgaagccatcgttctgtggct	9	12	12	8	1	2	2	1	1	1	1	3	3	2	2	2	2	2	3	2	2	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:175111043A>C	ENST00000231683.2	+	1	2580	c.807A>C	c.(805-807)ttA>ttC	p.L269F	HRH2_ENST00000377291.2_Missense_Mutation_p.L269F	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	269					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	ATGAGGTGTTAGAAGCCATCG	0.572																																																	0													133	106	115					5																	175111043		2203	4300	6503	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.807A>C	5.37:g.175111043A>C	ENSP00000231683:p.Leu269Phe		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.L269F	ENST00000231683.2	37	c.807	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	A	3.043	-0.197028	0.06259	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	T;T	0.39229	1.09;1.09	5.06	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	1.268340	0.05100	N	0.486916	T	0.29028	0.0721	L	0.43152	1.355	0.09310	N	1	B;B	0.15141	0.003;0.012	B;B	0.23852	0.049;0.049	T	0.13335	-1.0513	10	0.29301	T	0.29	.	6.7715	0.23596	0.0841:0.4842:0.2445:0.1871	.	269;269	P25021;Q7Z5R9	HRH2_HUMAN;.	F	269	ENSP00000366506:L269F;ENSP00000231683:L269F	ENSP00000231683:L269F	L	+	3	2	HRH2	175043649	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-2.310000	0.01129	-3.274000	0.00199	-0.542000	0.04241	TTA	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt	ENSG00000113749		0.572	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	-	0	36	0	A			175111043	1	tier1	-	no_errors	ENST00000377291	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.000	C	C	175111043	A	C	175111043	3	2	1	1	0	0	0	0	1	0	0	0	7383	417	15	4	809	4	HRH2	5	175111043	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	6909754	175111043	5804217	145	145											
FAF2	23197	genome.wustl.edu	37	chr5	175906212	175906212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactggcatcgaatctatGgatcagtgtcgccatacctt	9	12	8	12	2	3	0	2	0	1	0	5	2	3	1	2	2	1	1	2	2	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:175906212G>T	ENST00000261942.6	+	2	140	c.87G>T	c.(85-87)atG>atT	p.M29I	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	29	UBA.				lipid particle organization (GO:0034389)|negative regulation of catalytic activity (GO:0043086)|response to unfolded protein (GO:0006986)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	lipase binding (GO:0035473)|lipase inhibitor activity (GO:0055102)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCGAATCTATGGATCAGTGTC	0.383																																																	0													202	179	187					5																	175906212		2203	4300	6503	SO:0001583	missense	0			BC015791	CCDS34296.1	5q35.2	2011-06-28	2008-07-25	2008-07-25	ENSG00000113194	ENSG00000113194		"UBX domain containing"	24666	protein-coding gene	gene with protein product	"expressed in T cells and eosinophils in atopic dermatitis", "UBX domain protein 3B"		"UBX domain containing 8"	UBXD8		10048485, 12372427	Standard	NM_014613		Approved	ETEA, KIAA0887, UBXN3B	uc003mej.4	Q96CS3	OTTHUMG00000163228	ENST00000261942.6:c.87G>T	5.37:g.175906212G>T	ENSP00000261942:p.Met29Ile		O94963|Q8IUF2|Q9BRP2|Q9BVM7	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,pfscan_UBX	p.M29I	ENST00000261942.6	37	c.87	CCDS34296.1	5	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208823	0.58343	.	.	ENSG00000113194	ENST00000510730;ENST00000261942;ENST00000540174	.	.	.	5.11	5.11	0.69529	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40213	-0.9575	9	0.28530	T	0.3	-20.4751	18.9221	0.92529	0.0:0.0:1.0:0.0	.	29	Q96CS3	FAF2_HUMAN	I	9;29;29	.	ENSP00000261942:M29I	M	+	3	0	FAF2	175838818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.958000	0.93099	2.520000	0.84964	0.650000	0.86243	ATG	FAF2	-	superfamily_UBA-like	ENSG00000113194		0.383	FAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF2	HGNC	protein_coding	OTTHUMT00000372194.1	-	0	90	0	G	NM_014613		175906212	1	tier1	-	no_errors	ENST00000261942	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	T	T	175906212	G	T	175906212	3	4	1	1	0	0	0	0	1	0	0	0	5389	1348	47	3	93	3	FAF2	5	175906212	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	795169	175906212	5009048	146	146											
UNC5A	90249	genome.wustl.edu	37	chr5	176295959	176295959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctccgctgctgtcatcGtctacggtgggccccgggac	3	8	14	16	5	2	0	1	0	1	0	4	1	3	1	4	3	2	2	4	3	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:176295959G>A	ENST00000329542.4	+	5	989	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	UNC5A_ENST00000261961.3_Missense_Mutation_p.V199I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	239					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGTCATCGTCTACGGTGG	0.677																																																	0													38	33	35					5																	176295959		2199	4296	6495	SO:0001583	missense	0			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.715G>A	5.37:g.176295959G>A	ENSP00000332737:p.Val239Ile		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.V239I	ENST00000329542.4	37	c.715	CCDS34299.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.390720|4.390720	0.82902|0.82902	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000509580|ENST00000329542;ENST00000261961	.|T;T	.|0.60299	.|0.2;0.2	4.52|4.52	3.63|3.63	0.41609|0.41609	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.078901	.|0.50627	.|D	.|0.000107	T|T	0.72028|0.72028	0.3410|0.3410	M|M	0.64676|0.64676	1.99|1.99	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.994	T|T	0.74284|0.74284	-0.3715|-0.3715	5|10	.|0.66056	.|D	.|0.02	-38.834|-38.834	13.685|13.685	0.62511|0.62511	0.0:0.0:0.8443:0.1557|0.0:0.0:0.8443:0.1557	.|.	.|199;239;239	.|Q6ZN44-3;Q6ZN44;Q6ZN44-2	.|.;UNC5A_HUMAN;.	H|I	204|239;199	.|ENSP00000332737:V239I;ENSP00000261961:V199I	.|ENSP00000261961:V199I	R|V	+|+	2|1	0|0	UNC5A|UNC5A	176228565|176228565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.753000|0.753000	0.42808|0.42808	9.869000|9.869000	0.99810|0.99810	0.870000|0.870000	0.35726|0.35726	0.561000|0.561000	0.74099|0.74099	CGT|GTC	UNC5A	-	superfamily_Thrombospondin_1_rpt,smart_Ig_sub	ENSG00000113763		0.677	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	HGNC	protein_coding	OTTHUMT00000372166.1	-	0	29	0	G	XM_030300		176295959	1	tier1	-	no_errors	ENST00000329542	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A	A	176295959	G	A	176295959	3	1	1	1	0	0	0	0	1	0	0	0	17040	1145	40	1	733	1	UNC5A	5	176295959	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	389747	176295959	4619301	147	147											
ZNF346	23567	genome.wustl.edu	37	chr5	176449767	176449767	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccgcgccggccacggtgCaggccgcggacggcggagcg	5	2	18	16	9	0	0	0	0	0	0	1	2	1	2	4	6	2	1	4	6	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:176449767C>T	ENST00000358149.3	+	1	71	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	ZNF346_ENST00000261948.4_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000511834.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000503425.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000503039.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000506693.1_Nonsense_Mutation_p.Q10*|ZNF346_ENST00000512315.1_Nonsense_Mutation_p.Q10*	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	10					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCACGGTGCAGGCCGCGGA	0.692																																																	0													4	6	5					5																	176449767		2027	4138	6165	SO:0001587	stop_gained	0			AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.28C>T	5.37:g.176449767C>T	ENSP00000350869:p.Gln10*		B7Z367|Q68CV9|Q6ZMW1	Nonsense_Mutation	SNP	smart_Znf_U1,smart_Znf_C2H2-like	p.Q10*	ENST00000358149.3	37	c.28	CCDS4409.1	5	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549518	0.45383	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000512315;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	.	.	.	3.27	2.4	0.29515	.	0.598488	0.13940	N	0.352260	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.5612	0.33511	0.0:0.2414:0.7586:0.0	.	.	.	.	X	10	.	ENSP00000261948:Q10X	Q	+	1	0	ZNF346	176382373	0.476000	0.25901	0.013000	0.15412	0.028000	0.11728	0.427000	0.21379	0.944000	0.37579	-0.234000	0.12200	CAG	ZNF346	-	NULL	ENSG00000113761		0.692	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF346	HGNC	protein_coding	OTTHUMT00000253415.2		0	82	0	C	NM_012279		176449767	1			no_errors	ENST00000261948	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.015	T	T	176449767	C	T	176449767	4	4	1	1	0	0	0	0	0	1	0	0	17908	711	25	3	30	3	ZNF346	5	176449767	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	153808	176449767	4465493	148	148											
MAML1	9794	genome.wustl.edu	37	chr5	179192383	179192383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacttcccctcagaatggCgatcaacagaatggctacgg	11	7	10	13	2	2	2	2	0	0	2	3	3	3	2	3	3	2	1	3	3	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr5:179192383C>T	ENST00000292599.3	+	2	635	c.372C>T	c.(370-372)ggC>ggT	p.G124G	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCAGAATGGCGATCAACAGA	0.478																																																	0													75	79	78					5																	179192383		2203	4300	6503	SO:0001819	synonymous_variant	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.372C>T	5.37:g.179192383C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.G124	ENST00000292599.3	37	c.372	CCDS34315.1	5																																																																																			MAML1	-	NULL	ENSG00000161021		0.478	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2		0	47	0	C	NM_014757		179192383	1			no_errors	ENST00000292599	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.001	T	T	179192383	C	T	179192383	2	4	1	1	0	0	0	0	0	0	0	1	9243	755	27	1		1	MAML1	5	179192383	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	2742616	179192383	1722877	149	149											
WRNIP1	56897	genome.wustl.edu	37	chr6	2784625	2784625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtcattttataggcatGcctgaatgtgaggtaaagta	11	13	12	5	0	1	2	1	2	0	0	1	2	1	2	1	3	1	4	1	3	6	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:2784625G>A	ENST00000380773.4	+	6	1919	c.1710G>A	c.(1708-1710)atG>atA	p.M570I	WRNIP1_ENST00000380771.4_Missense_Mutation_p.M545I|WRNIP1_ENST00000380764.1_Missense_Mutation_p.M186I|WRNIP1_ENST00000380769.4_Missense_Mutation_p.M350I	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TTATAGGCATGCCTGAATGTG	0.458																																																	0													109	89	95					6																	2784625		2203	4300	6503	SO:0001583	missense	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1710G>A	6.37:g.2784625G>A	ENSP00000370150:p.Met570Ile			Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.M570I	ENST00000380773.4	37	c.1710	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.198599	0.94997	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.51574	0.7;0.76;0.8	5.57	5.57	0.84162	MgsA AAA+ ATPase C-terminal (1);	0.070711	0.85682	D	0.000000	T	0.69691	0.3139	M	0.92268	3.29	0.80722	D	1	D;D	0.56287	0.973;0.975	P;P	0.60541	0.73;0.876	T	0.75107	-0.3434	10	0.48119	T	0.1	-8.4412	18.5466	0.91048	0.0:0.0:1.0:0.0	.	545;570	Q96S55-2;Q96S55	.;WRIP1_HUMAN	I	570;545;350;186	ENSP00000370150:M570I;ENSP00000370148:M545I;ENSP00000370146:M350I	ENSP00000370141:M186I	M	+	3	0	WRNIP1	2729624	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.252000	0.95491	2.610000	0.88304	0.563000	0.77884	ATG	WRNIP1	-	pfam_MgsA_C	ENSG00000124535		0.458	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	-	0	49	0	G	NM_130395		2784625	1	tier1	-	no_errors	ENST00000380773	ensembl	human	known	74_37	missense	54.90	23	28	SNP	1.000	A	A	2784625	G	A	2784625	3	1	1	1	0	0	0	0	1	0	0	0	17452	1319	46	3	1732	3	WRNIP1	6	2784625	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		2784625	168330442	150	150											
PRPF4B	8899	genome.wustl.edu	37	chr6	4044110	4044110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccaagcagcccccagAgcagtacgagaacacgatca	15	3	9	14	2	1	3	1	1	0	2	1	5	1	3	3	0	6	3	3	0	4	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:4044110A>G	ENST00000337659.6	+	6	1814	c.1714A>G	c.(1714-1716)Agc>Ggc	p.S572G	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S558G	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	572					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CAGCCCCCAGAGCAGTACGAG	0.403																																																	0													91	85	87					6																	4044110		2203	4300	6503	SO:0001583	missense	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1714A>G	6.37:g.4044110A>G	ENSP00000337194:p.Ser572Gly		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S572G	ENST00000337659.6	37	c.1714	CCDS4488.1	6	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989906	0.74589	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70516	-0.48;-0.49	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.64404	1.975	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.76900	-0.2788	10	0.46703	T	0.11	.	15.6454	0.77046	1.0:0.0:0.0:0.0	.	572	Q13523	PRP4B_HUMAN	G	572;558	ENSP00000337194:S572G;ENSP00000439331:S558G	ENSP00000337194:S572G	S	+	1	0	PRPF4B	3989109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.788000	0.91834	2.157000	0.67596	0.528000	0.53228	AGC	PRPF4B	-	NULL	ENSG00000112739		0.403	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2	-	0	47	0	A			4044110	1	tier1	-	no_errors	ENST00000337659	ensembl	human	known	74_37	missense	6.35	58	4	SNP	1.000	G	G	4044110	A	G	4044110	3	3	1	1	0	0	0	0	1	0	0	0	12615	304	11	4	1736	4	PRPF4B	6	4044110	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	1259485	4044110	167070957	151	151											
TXNDC5	81567	genome.wustl.edu	37	chr6	7899873	7899873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagtcccgaggacccTggtacttcacagcttcttgg	7	11	11	12	1	3	0	1	0	2	0	4	3	4	2	2	4	2	2	2	4	2	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:7899873T>C	ENST00000379757.4	-	3	492	c.455A>G	c.(454-456)cAg>cGg	p.Q152R	TXNDC5_ENST00000473453.1_Missense_Mutation_p.Q44R|TXNDC5_ENST00000539054.1_Missense_Mutation_p.Q80R|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	152	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CCGAGGACCCTGGTACTTCAC	0.493																																					Ovarian(119;1430 1625 3928 26125 34589)												0													95	91	92					6																	7899873		2203	4300	6503	SO:0001583	missense	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.455A>G	6.37:g.7899873T>C	ENSP00000369081:p.Gln152Arg		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.Q152R	ENST00000379757.4	37	c.455	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	.	12.86	2.064956	0.36470	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03330	3.97;3.97;3.97	5.5	5.5	0.81552	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.03520	0.0101	N	0.20328	0.56	0.80722	D	1	B;D	0.76494	0.043;0.999	B;D	0.85130	0.071;0.997	T	0.54516	-0.8282	10	0.07482	T	0.82	.	15.9091	0.79456	0.0:0.0:0.0:1.0	.	80;152	Q86UY0;Q8NBS9	.;TXND5_HUMAN	R	80;152;44	ENSP00000442453:Q80R;ENSP00000369081:Q152R;ENSP00000420784:Q44R	ENSP00000442453:Q80R	Q	-	2	0	TXNDC5	7844872	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.993000	0.70616	2.209000	0.71365	0.533000	0.62120	CAG	TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000239264		0.493	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	-	0	68	0	T	NM_030810		7899873	-1	tier1	-	no_errors	ENST00000379757	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	C	C	7899873	T	C	7899873	3	2	1	1	0	0	0	0	1	0	0	0	16848	1580	55	4	875	4	TXNDC5	6	7899873	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	3855763	7899873	163215194	152	152											
HDGFL1	154150	genome.wustl.edu	37	chr6	22570420	22570420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggtggagaacggcagcGcccctagcgagccgggcctg	6	4	18	13	5	0	1	0	0	0	1	0	3	0	1	4	5	4	1	4	5	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:22570420G>A	ENST00000230012.3	+	1	743	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	HDGFL1_ENST00000510882.2_Missense_Mutation_p.A206T	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	206	Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GAACGGCAGCGCCCCTAGCGA	0.746																																																	0													3	6	5					6																	22570420		1836	3821	5657	SO:0001583	missense	0			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.616G>A	6.37:g.22570420G>A	ENSP00000230012:p.Ala206Thr		Q96MJ6	Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.A206T	ENST00000230012.3	37	c.616	CCDS34347.1	6	.	.	.	.	.	.	.	.	.	.	G	4.980	0.181971	0.09495	.	.	ENSG00000112273	ENST00000230012;ENST00000510882	T;T	0.32023	1.47;1.47	2.39	0.165	0.14995	.	2.866800	0.01865	N	0.036887	T	0.03348	0.0097	N	0.12182	0.205	0.09310	N	1	B	0.29301	0.241	B	0.17979	0.02	T	0.10382	-1.0632	10	0.05436	T	0.98	-10.1787	4.6392	0.12540	0.3949:0.0:0.6051:0.0	.	206	Q5TGJ6	HDGL1_HUMAN	T	206	ENSP00000230012:A206T;ENSP00000442129:A206T	ENSP00000230012:A206T	A	+	1	0	HDGFL1	22678399	0.000000	0.05858	0.011000	0.14972	0.057000	0.15508	-1.369000	0.02578	0.004000	0.14682	0.555000	0.69702	GCC	HDGFL1	-	NULL	ENSG00000112273		0.746	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	HGNC	protein_coding	OTTHUMT00000043500.1	-	0	15	0	G	NM_138574		22570420	1	tier1	-	no_errors	ENST00000230012	ensembl	human	known	74_37	missense	44.44	9	8	SNP	0.043	A	A	22570420	G	A	22570420	3	1	1	1	0	0	0	0	1	0	0	0	7046	1087	38	1	618	1	HDGFL1	6	22570420	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	14670547	22570420	148544647	153	153											
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056205	26056205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcggtgttttcttaGcgctcttcttcggagttgcg	2	19	10	10	4	4	0	0	0	4	0	6	1	4	1	0	2	2	3	0	2	1	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:26056205G>T	ENST00000343677.2	-	1	494	c.452C>A	c.(451-453)gCt>gAt	p.A151D		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	151					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TGTTTTCTTAGCGCTCTTCTT	0.562																																																	0													73	86	82					6																	26056205		2202	4298	6500	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.452C>A	6.37:g.26056205G>T	ENSP00000339566:p.Ala151Asp		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.A151D	ENST00000343677.2	37	c.452	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	G	7.082	0.570519	0.13560	.	.	ENSG00000187837	ENST00000343677	T	0.19250	2.16	5.47	2.22	0.28083	.	0.066851	0.56097	D	0.000024	T	0.03564	0.0102	N	0.14661	0.345	0.39833	D	0.97299	B	0.06786	0.001	B	0.06405	0.002	T	0.33650	-0.9860	10	0.18276	T	0.48	-7.9972	8.613	0.33815	0.329:0.0:0.671:0.0	.	151	P16403	H12_HUMAN	D	151	ENSP00000339566:A151D	ENSP00000339566:A151D	A	-	2	0	HIST1H1C	26164184	0.101000	0.21875	0.584000	0.28653	0.044000	0.14063	2.021000	0.41020	0.309000	0.22966	0.650000	0.86243	GCT	HIST1H1C	-	NULL	ENSG00000187837		0.562	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1		0	27	0	G	NM_005319		26056205	-1			no_errors	ENST00000343677	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.939	T	T	26056205	G	T	26056205	3	4	1	1	0	0	0	0	1	0	0	0	7151	971	34	3	193	3	HIST1H1C	6	26056205	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3485785	26056205	145058862	154	154											
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056594	26056594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctttttggccgccttcttCtttacaggggccttctccgc	2	15	9	15	2	3	0	0	0	3	0	4	0	3	0	5	3	1	0	5	3	1	7	rs370362598		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:26056594C>G	ENST00000343677.2	-	1	105	c.63G>C	c.(61-63)aaG>aaC	p.K21N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	21					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CCGCCTTCTTCTTTACAGGGG	0.607																																																	0													33	40	37					6																	26056594		2202	4298	6500	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.63G>C	6.37:g.26056594C>G	ENSP00000339566:p.Lys21Asn		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K21N	ENST00000343677.2	37	c.63	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181886	0.38511	.	.	ENSG00000187837	ENST00000343677	T	0.12774	2.65	5.73	3.93	0.45458	.	0.204891	0.40222	N	0.001152	T	0.09818	0.0241	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.25257	-1.0137	10	0.72032	D	0.01	-6.2303	12.1154	0.53861	0.0:0.8596:0.0:0.1404	.	21	P16403	H12_HUMAN	N	21	ENSP00000339566:K21N	ENSP00000339566:K21N	K	-	3	2	HIST1H1C	26164573	1.000000	0.71417	0.998000	0.56505	0.096000	0.18686	2.547000	0.45786	0.866000	0.35629	0.655000	0.94253	AAG	HIST1H1C	-	NULL	ENSG00000187837		0.607	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	-	0	75	0	C	NM_005319		26056594	-1	tier1	-	no_errors	ENST00000343677	ensembl	human	known	74_37	missense	13.40	84	13	SNP	1.000	G	G	26056594	C	G	26056594	3	3	1	1	0	0	0	0	1	0	0	0	7151	912	32	5	582	5	HIST1H1C	6	26056594	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	389	26056594	145058473	155	155											
BTN3A1	11119	genome.wustl.edu	37	chr6	26413495	26413495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagccccaggatctgccaGacaaccctgagagatttaat	13	7	10	11	0	1	3	0	1	1	2	1	6	1	5	4	2	3	0	4	2	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:26413495G>A	ENST00000289361.6	+	10	1485	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N	BTN3A1_ENST00000414912.2_Missense_Mutation_p.D321N	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	373	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGATCTGCCAGACAACCCTGA	0.512																																																	0													144	158	153					6																	26413495		2203	4300	6503	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1117G>A	6.37:g.26413495G>A	ENSP00000289361:p.Asp373Asn		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.D373N	ENST00000289361.6	37	c.1117	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	12.49	1.952897	0.34471	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.15256	2.44;2.44	2.96	1.04	0.20106	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.10637	0.0260	L	0.48935	1.535	0.09310	N	1	P;D	0.57257	0.476;0.979	B;P	0.54759	0.285;0.76	T	0.10474	-1.0628	9	0.56958	D	0.05	.	4.7268	0.12945	0.138:0.4516:0.4104:0.0	.	321;373	E9PGB4;O00481	.;BT3A1_HUMAN	N	373;321	ENSP00000289361:D373N;ENSP00000406667:D321N	ENSP00000289361:D373N	D	+	1	0	BTN3A1	26521474	0.012000	0.17670	0.007000	0.13788	0.118000	0.20060	0.241000	0.18065	0.492000	0.27815	0.609000	0.83330	GAC	BTN3A1	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY	ENSG00000026950		0.512	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0	92	0	G			26413495	1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	missense	22.08	60	17	SNP	0.027	A	A	26413495	G	A	26413495	3	1	1	1	0	0	0	0	1	0	0	0	1566	942	33	3	1319	3	BTN3A1	6	26413495	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	356901	26413495	144701572	156	156											
ZSCAN23	222696	genome.wustl.edu	37	chr6	28403283	28403283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaaattatacccaagttgCtcttccaaggtttggaattg	11	13	8	9	1	1	0	0	0	1	0	2	1	2	1	2	2	2	4	2	2	6	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:28403283C>T	ENST00000289788.4	-	3	655	c.510G>A	c.(508-510)gaG>gaA	p.E170E	ZSCAN23_ENST00000486481.1_5'UTR	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	170					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ACCCAAGTTGCTCTTCCAAGG	0.458																																																	0													85	74	77					6																	28403283		692	1591	2283	SO:0001819	synonymous_variant	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.510G>A	6.37:g.28403283C>T			Q96KV9	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E170	ENST00000289788.4	37	c.510	CCDS47393.1	6																																																																																			ZSCAN23	-	NULL	ENSG00000187987		0.458	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	-	0	30	0	C	XM_167147		28403283	-1	tier1	-	no_errors	ENST00000289788	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.841	T	T	28403283	C	T	28403283	2	4	1	1	0	0	0	0	0	0	0	1	18283	796	28	3		3	ZSCAN23	6	28403283	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1989788	28403283	142711784	157	157											
PPP1R10	5514	genome.wustl.edu	37	chr6	30570393	30570393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcccgggccatcccagaagGgatcacctccccggggaggg	7	3	15	16	3	1	1	1	0	0	1	3	3	3	3	6	5	0	0	6	5	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:30570393G>A	ENST00000376511.2	-	19	2585	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	678	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ATCCCAGAAGGGATCACCTCC	0.667																																																	0													8	12	11					6																	30570393		1407	2576	3983	SO:0001583	missense	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2033C>T	6.37:g.30570393G>A	ENSP00000365694:p.Pro678Leu		O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.P678L	ENST00000376511.2	37	c.2033	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386581	0.25031	.	.	ENSG00000204569	ENST00000376511	T	0.43688	0.94	4.48	3.61	0.41365	.	0.432027	0.24841	N	0.035171	T	0.09379	0.0231	N	0.08118	0	0.34091	D	0.660732	B	0.02656	0.0	B	0.04013	0.001	T	0.04915	-1.0918	10	0.59425	D	0.04	-1.1166	6.458	0.21940	0.0993:0.1841:0.7166:0.0	.	678	Q96QC0	PP1RA_HUMAN	L	678	ENSP00000365694:P678L	ENSP00000365694:P678L	P	-	2	0	PPP1R10	30678372	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.743000	0.47442	1.255000	0.44051	0.485000	0.47835	CCC	PPP1R10	-	NULL	ENSG00000204569		0.667	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2	-	0	55	0	G	NM_002714		30570393	-1	tier1	-	no_errors	ENST00000376511	ensembl	human	known	74_37	missense	26.87	48	18	SNP	0.993	A	A	30570393	G	A	30570393	3	1	1	1	0	0	0	0	1	0	0	0	12394	1232	43	3	797	3	PPP1R10	6	30570393	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2167110	30570393	140544674	158	158											
SLC26A8	116369	genome.wustl.edu	37	chr6	35911951	35911951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcaggctccagctccCgatccaggtctaggtccaga	8	9	9	15	1	2	1	1	0	1	1	6	2	6	1	5	3	1	2	5	3	1	2	rs138910476		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:35911951C>T	ENST00000490799.1	-	20	2992	c.2639G>A	c.(2638-2640)cGg>cAg	p.R880Q	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R880Q|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R775Q	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.R880L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTCCAGCTCCCGATCCAGGTC	0.572													C|||	1	0.000199681	8e-04	0	5008	,	,		14505	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	112	110	110		2639,2639,2324	-11.7	0	6	dbSNP_134	110	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	43,43,43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign,benign	880/971,880/971,775/866	35911951	4,13002	2203	4300	6503	SO:0001583	missense	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2639G>A	6.37:g.35911951C>T	ENSP00000417638:p.Arg880Gln			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R880Q	ENST00000490799.1	37	c.2639	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803403	0.16397	0.0	4.65E-4	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	T;T;T	0.44482	0.92;0.92;0.92	5.87	-11.7	0.00046	.	4.195330	0.00589	N	0.000351	T	0.04770	0.0129	N	0.12182	0.205	0.09310	N	1	B;B;B	0.13594	0.005;0.008;0.003	B;B;B	0.04013	0.0;0.001;0.001	T	0.16600	-1.0397	10	0.22706	T	0.39	.	6.9411	0.24492	0.3268:0.4603:0.1434:0.0694	.	880;775;462	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	Q	880;775;880	ENSP00000417638:R880Q;ENSP00000378100:R775Q;ENSP00000347778:R880Q	ENSP00000347778:R880Q	R	-	2	0	SLC26A8	36019929	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-4.101000	0.00295	-5.796000	0.00009	-2.629000	0.00154	CGG	SLC26A8	-	NULL	ENSG00000112053		0.572	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0	46	0	C			35911951	-1	tier1	rs138910476	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	60.87	18	28	SNP	0.000	T	T	35911951	C	T	35911951	3	4	1	1	0	0	0	0	1	0	0	0	14568	652	23	1	277	1	SLC26A8	6	35911951	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	5341558	35911951	135203116	159	159											
ZFAND3	60685	genome.wustl.edu	37	chr6	38029503	38029503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactcttagtcccagccagCagccgcttccgacagaactg	10	7	8	16	2	1	1	0	0	1	1	3	2	3	1	4	0	5	2	4	0	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:38029503C>T	ENST00000287218.4	+	3	694	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	ZFAND3_ENST00000373391.2_Nonsense_Mutation_p.Q83*	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	83							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						TCCCAGCCAGCAGCCGCTTCC	0.473																																																	0													79	70	73					6																	38029503		2203	4300	6503	SO:0001587	stop_gained	0			AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"Zinc fingers, AN1-type domain containing"	18019	protein-coding gene	gene with protein product		607455	"testis expressed sequence 27"	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.247C>T	6.37:g.38029503C>T	ENSP00000287218:p.Gln83*		Q5SZZ0|Q5SZZ1	Nonsense_Mutation	SNP	pfam_Znf_AN1,pfam_Znf_A20,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1	p.Q83*	ENST00000287218.4	37	c.247	CCDS4836.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.388994|5.388994	0.95988|0.95988	.|.	.|.	ENSG00000156639|ENSG00000156639	ENST00000373389|ENST00000287218;ENST00000373391;ENST00000474522	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.432577	.|0.27567	.|N	.|0.018781	T|.	0.35098|.	0.0920|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30909|.	-0.9962|.	3|.	.|0.06099	.|T	.|0.92	-7.9907|-7.9907	19.6167|19.6167	0.95636|0.95636	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	59|83;83;114	.|.	.|ENSP00000287218:Q83X	A|Q	+|+	2|1	0|0	ZFAND3|ZFAND3	38137481|38137481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.317000|5.317000	0.65822|0.65822	2.708000|2.708000	0.92522|0.92522	0.467000|0.467000	0.42956|0.42956	GCA|CAG	ZFAND3	-	NULL	ENSG00000156639		0.473	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND3	HGNC	protein_coding	OTTHUMT00000040424.3		0	51	0	C	NM_021943		38029503	1			no_errors	ENST00000287218	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T	T	38029503	C	T	38029503	4	4	1	1	0	0	0	0	0	1	0	0	17677	711	25	3	257	3	ZFAND3	6	38029503	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	2117552	38029503	133085564	160	160											
APOBEC2	10930	genome.wustl.edu	37	chr6	41029167	41029167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctatgtggttgaagcacagGgcaaggggggccaagtgcag	10	6	18	7	0	0	1	0	1	0	0	0	1	0	1	1	5	2	5	1	5	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:41029167G>T	ENST00000244669.2	+	2	276	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	78					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G78S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGCACAGGGCAAGGGGGG	0.547																																					Ovarian(118;1320 2185 8096 29684)												1	Substitution - Missense(1)	skin(1)											78	76	76					6																	41029167		2203	4300	6503	SO:0001583	missense	0			AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"Apolipoprotein B mRNA editing enzymes"	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.232G>T	6.37:g.41029167G>T	ENSP00000244669:p.Gly78Cys		B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.G78C	ENST00000244669.2	37	c.232	CCDS4848.1	6	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838947	0.16891	.	.	ENSG00000124701	ENST00000244669	T	0.66280	-0.2	5.69	-2.95	0.05564	APOBEC-like, N-terminal (1);	0.947459	0.09045	N	0.856729	T	0.42063	0.1186	M	0.72894	2.215	0.47476	D	0.999437	B	0.09022	0.002	B	0.09377	0.004	T	0.47995	-0.9073	10	0.62326	D	0.03	.	11.3279	0.49458	0.6053:0.0:0.3947:0.0	.	78	Q9Y235	ABEC2_HUMAN	C	78	ENSP00000244669:G78C	ENSP00000244669:G78C	G	+	1	0	APOBEC2	41137145	0.997000	0.39634	0.019000	0.16419	0.513000	0.34164	0.672000	0.25187	-1.110000	0.02992	-0.793000	0.03317	GGC	APOBEC2	-	pfam_APOBEC_N	ENSG00000124701		0.547	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC2	HGNC	protein_coding	OTTHUMT00000040498.1		0	49	0	G	NM_006789		41029167	1			no_errors	ENST00000244669	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.589	T	T	41029167	G	T	41029167	3	4	1	1	0	0	0	0	1	0	0	0	788	1232	43	3	238	3	APOBEC2	6	41029167	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2999664	41029167	130085900	161	161											
TTBK1	84630	genome.wustl.edu	37	chr6	43251696	43251696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagccctcaggctcacTgtcggccaaagagcggtgga	8	6	14	13	3	2	1	2	0	0	1	4	3	2	3	2	5	2	1	2	5	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:43251696T>A	ENST00000259750.4	+	14	3301	c.3218T>A	c.(3217-3219)cTg>cAg	p.L1073Q		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1073					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TCAGGCTCACTGTCGGCCAAA	0.687																																																	0													18	18	18					6																	43251696		2183	4237	6420	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3218T>A	6.37:g.43251696T>A	ENSP00000259750:p.Leu1073Gln		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L1073Q	ENST00000259750.4	37	c.3218	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	T	14.60	2.585150	0.46110	.	.	ENSG00000146216	ENST00000259750	T	0.56275	0.47	5.02	5.02	0.67125	.	0.348022	0.23768	N	0.044741	T	0.30135	0.0755	L	0.46157	1.445	0.80722	D	1	P	0.37015	0.578	B	0.36186	0.219	T	0.38802	-0.9644	10	0.72032	D	0.01	.	8.102	0.30863	0.2912:0.0:0.0:0.7087	.	1073	Q5TCY1	TTBK1_HUMAN	Q	1073	ENSP00000259750:L1073Q	ENSP00000259750:L1073Q	L	+	2	0	TTBK1	43359674	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.837000	0.55820	1.885000	0.54596	0.374000	0.22700	CTG	TTBK1	-	NULL	ENSG00000146216		0.687	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0	26	0	T			43251696	1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.995	A	A	43251696	T	A	43251696	3	1	1	1	0	0	0	0	1	0	0	0	16725	1580	55	5	3268	5	TTBK1	6	43251696	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	2222529	43251696	127863371	162	162											
CDC5L	988	genome.wustl.edu	37	chr6	44387254	44387254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggacttaataccccattGcatgagagtgacttctcagg	10	11	11	9	0	1	2	1	2	1	1	2	4	1	3	2	3	2	1	2	3	2	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:44387254G>T	ENST00000371477.3	+	9	1460	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	387	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATACCCCATTGCATGAGAGTG	0.443																																																	0													157	137	144					6																	44387254		2203	4300	6503	SO:0001583	missense	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"CDC5 (cell division cycle 5, S. pombe, homolog)-like", "CDC5 cell division cycle 5-like (S. pombe)"			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1161G>T	6.37:g.44387254G>T	ENSP00000360532:p.Leu387Phe		Q76N46|Q99974	Missense_Mutation	SNP	pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L387F	ENST00000371477.3	37	c.1161	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871287	0.72065	.	.	ENSG00000096401	ENST00000371477	T	0.59224	0.28	5.57	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.90977	3.165	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.77851	-0.2434	10	0.87932	D	0	-6.2165	8.3126	0.32080	0.0723:0.0:0.6623:0.2654	.	387	Q99459	CDC5L_HUMAN	F	387	ENSP00000360532:L387F	ENSP00000360532:L387F	L	+	3	2	CDC5L	44495232	1.000000	0.71417	0.992000	0.48379	0.986000	0.74619	1.837000	0.39201	1.319000	0.45190	0.563000	0.77884	TTG	CDC5L	-	pfam_DUF3351	ENSG00000096401		0.443	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	-	0	42	0	G			44387254	1	tier1	-	no_errors	ENST00000371477	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	44387254	G	T	44387254	3	4	1	1	0	0	0	0	1	0	0	0	3089	1310	46	3	1195	3	CDC5L	6	44387254	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1135558	44387254	126727813	163	163											
LRRC1	55227	genome.wustl.edu	37	chr6	53747766	53747766	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacagtctctacctgaaaaTattggcaagtaagttttttt	12	16	6	7	0	1	1	0	1	1	0	2	1	1	1	1	1	2	3	1	1	7	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:53747766T>C	ENST00000370888.1	+	4	715	c.438T>C	c.(436-438)aaT>aaC	p.N146N	LRRC1_ENST00000370882.1_Silent_p.N146N	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	146						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TACCTGAAAATATTGGCAAGT	0.368																																																	0													111	109	110					6																	53747766		2202	4298	6500	SO:0001819	synonymous_variant	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.438T>C	6.37:g.53747766T>C			Q5TGN3|Q9HAC0|Q9NVF1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N146	ENST00000370888.1	37	c.438	CCDS4953.2	6																																																																																			LRRC1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137269		0.368	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	-	0	47	0	T	NM_025168		53747766	1	tier1	-	no_errors	ENST00000370888	ensembl	human	known	74_37	silent	23.21	43	13	SNP	1.000	C	C	53747766	T	C	53747766	2	2	1	1	0	0	0	0	0	0	0	1	9001	1403	49	4		4	LRRC1	6	53747766	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	9360512	53747766	117367301	164	164											
PRIM2	5558	genome.wustl.edu	37	chr6	57512588	57512588	+	3'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccaaccagaaactcctcaAcccaaaccaagtgtccagaa	17	5	4	15	0	1	2	1	0	0	2	4	2	4	2	6	0	4	0	6	0	6	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:57512588A>C	ENST00000389488.2	+	0	1503				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAACTCCTCAACCCAAACCAA	0.388																																																	0													386	363	370					6																	57512588		1962	4156	6118	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1500A>C	6.37:g.57512588A>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.388	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0	104	0	A	NM_000947		57512588	1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	12.94	74	11	SNP	0.052	C	C	57512588	A	C	57512588	1	2	1	0	1	0	0	0	0	0	0	0	12533	40	2	4		4	PRIM2	6	57512588	3'UTR	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	3764822	57512588	113602479	165	165											
EYS	346007	genome.wustl.edu	37	chr6	65301179	65301179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagcctcagtaatagcCtgatattcactgggattgaa	12	12	9	8	0	2	3	2	3	0	0	2	4	2	4	2	1	2	1	2	1	5	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:65301179C>T	ENST00000370621.3	-	26	5107	c.4581G>A	c.(4579-4581)caG>caA	p.Q1527Q	EYS_ENST00000370616.2_Silent_p.Q1527Q|EYS_ENST00000503581.1_Silent_p.Q1527Q			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1527					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAGTAATAGCCTGATATTCAC	0.393																																																	0													50	42	44					6																	65301179		692	1590	2282	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4581G>A	6.37:g.65301179C>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Q1527	ENST00000370621.3	37	c.4581		6																																																																																			EYS	-	NULL	ENSG00000188107		0.393	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	35	0	C	XM_294050		65301179	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.004	T	T	65301179	C	T	65301179	2	4	1	1	0	0	0	0	0	0	0	1	5348	680	24	3		3	EYS	6	65301179	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7788591	65301179	105813888	166	166											
EYS	346007	genome.wustl.edu	37	chr6	65301203	65301203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcactgggattgaaggcTtttgtactgaaccggtgcag	9	13	12	7	1	1	2	1	2	0	0	1	3	1	3	1	3	3	3	1	3	4	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:65301203T>G	ENST00000370621.3	-	26	5083	c.4557A>C	c.(4555-4557)aaA>aaC	p.K1519N	EYS_ENST00000370616.2_Missense_Mutation_p.K1519N|EYS_ENST00000503581.1_Missense_Mutation_p.K1519N			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1519					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATTGAAGGCTTTTGTACTGA	0.418																																																	0													50	42	44					6																	65301203		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4557A>C	6.37:g.65301203T>G	ENSP00000359655:p.Lys1519Asn		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1519N	ENST00000370621.3	37	c.4557		6	.	.	.	.	.	.	.	.	.	.	T	6.588	0.476899	0.12521	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84516	-1.86;-1.84;-1.84	5.7	3.34	0.38264	.	.	.	.	.	T	0.48314	0.1493	N	0.08118	0	0.09310	N	0.999994	B;B	0.29805	0.257;0.167	B;B	0.26864	0.074;0.034	T	0.38023	-0.9680	9	0.24483	T	0.36	.	8.4075	0.32622	0.0:0.1538:0.0:0.8462	.	1519;1519	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	N	1519	ENSP00000424243:K1519N;ENSP00000359655:K1519N;ENSP00000359650:K1519N	ENSP00000359650:K1519N	K	-	3	2	EYS	65357924	0.291000	0.24352	0.001000	0.08648	0.078000	0.17371	2.439000	0.44846	0.454000	0.26884	0.482000	0.46254	AAA	EYS	-	NULL	ENSG00000188107		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	34	0	T	XM_294050		65301203	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	26.42	39	14	SNP	0.022	G	G	65301203	T	G	65301203	3	3	1	1	0	0	0	0	1	0	0	0	5348	1606	56	4	4794	4	EYS	6	65301203	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	24	65301203	105813864	167	167											
EYS	346007	genome.wustl.edu	37	chr6	66205147	66205147	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccagcaatctctgtagaAgtccaagcagatgttttctg	13	11	8	9	0	2	2	0	0	2	2	4	2	3	2	2	0	3	4	2	0	5	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:66205147A>C	ENST00000370621.3	-	4	683	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	EYS_ENST00000370618.3_Missense_Mutation_p.F53V|EYS_ENST00000370616.2_Missense_Mutation_p.F53V|EYS_ENST00000342421.5_Missense_Mutation_p.F53V|EYS_ENST00000393380.2_Missense_Mutation_p.F53V|EYS_ENST00000503581.1_Missense_Mutation_p.F53V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	53					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCTCTGTAGAAGTCCAAGCAG	0.398																																																	0													108	108	108					6																	66205147		2203	4300	6503	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.157T>G	6.37:g.66205147A>C	ENSP00000359655:p.Phe53Val		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F53V	ENST00000370621.3	37	c.157		6	.	.	.	.	.	.	.	.	.	.	A	7.746	0.702237	0.15172	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.89196	-1.44;-1.43;-1.43;-2.48;-2.44;-2.44	5.13	2.68	0.31781	.	.	.	.	.	T	0.59569	0.2203	N	0.08118	0	0.09310	N	1	B;B;B	0.27351	0.176;0.025;0.014	B;B;B	0.24541	0.054;0.017;0.013	T	0.55127	-0.8189	9	0.72032	D	0.01	.	6.0225	0.19636	0.7495:0.1647:0.0858:0.0	.	53;53;53	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	53	ENSP00000424243:F53V;ENSP00000359655:F53V;ENSP00000359650:F53V;ENSP00000377042:F53V;ENSP00000341818:F53V;ENSP00000359652:F53V	ENSP00000341818:F53V	F	-	1	0	EYS	66261868	0.000000	0.05858	0.000000	0.03702	0.671000	0.39405	0.707000	0.25704	0.339000	0.23719	0.482000	0.46254	TTC	EYS	-	NULL	ENSG00000188107		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	42	0	A	XM_294050		66205147	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.001	C	C	66205147	A	C	66205147	3	2	1	1	0	0	0	0	1	0	0	0	5348	72	3	4	9399	4	EYS	6	66205147	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	903944	66205147	104909920	168	168											
RIMS1	22999	genome.wustl.edu	37	chr6	72889338	72889338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaccaaatctggggcaTggttctttggaagtggccct	8	13	11	9	0	3	0	0	0	3	0	3	1	3	1	2	5	1	2	2	5	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:72889338T>C	ENST00000521978.1	+	5	532	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R	RIMS1_ENST00000348717.5_Missense_Mutation_p.W178R|RIMS1_ENST00000264839.7_Missense_Mutation_p.W178R|RIMS1_ENST00000491071.2_Missense_Mutation_p.W178R|RIMS1_ENST00000517960.1_Missense_Mutation_p.W178R|RIMS1_ENST00000522291.1_Missense_Mutation_p.W178R|RIMS1_ENST00000518273.1_Missense_Mutation_p.W178R|RIMS1_ENST00000520567.1_Missense_Mutation_p.W178R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	178	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTGGGGCATGGTTCTTTGG	0.423																																																	0													45	47	47					6																	72889338		1923	4121	6044	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.532T>C	6.37:g.72889338T>C	ENSP00000428417:p.Trp178Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.W178R	ENST00000521978.1	37	c.532	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322715	0.81580	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	D;T;D;D;D;D;D;D	0.88975	-2.45;-1.23;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000009	D	0.94588	0.8256	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.95570	0.8637	10	0.87932	D	0	-11.6177	15.8848	0.79238	0.0:0.0:0.0:1.0	.	178	Q86UR5	RIMS1_HUMAN	R	178	ENSP00000430101:W178R;ENSP00000275037:W178R;ENSP00000264839:W178R;ENSP00000429959:W178R;ENSP00000430408:W178R;ENSP00000430502:W178R;ENSP00000430932:W178R;ENSP00000428417:W178R	ENSP00000264839:W178R	W	+	1	0	RIMS1	72946059	1.000000	0.71417	0.964000	0.40570	0.975000	0.68041	8.040000	0.89188	2.156000	0.67533	0.533000	0.62120	TGG	RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000079841		0.423	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	46	0	T			72889338	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.999	C	C	72889338	T	C	72889338	3	2	1	1	0	0	0	0	1	0	0	0	13412	1464	51	4	550	4	RIMS1	6	72889338	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	6684191	72889338	98225729	169	169											
RIMS1	22999	genome.wustl.edu	37	chr6	72889607	72889607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtctagaagtgaaccTcctagagagaggtaatagtt	13	10	11	7	0	1	4	0	1	1	3	3	5	3	4	3	2	1	2	3	2	6	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:72889607T>C	ENST00000521978.1	+	5	801	c.801T>C	c.(799-801)ccT>ccC	p.P267P	RIMS1_ENST00000348717.5_Silent_p.P267P|RIMS1_ENST00000264839.7_Silent_p.P267P|RIMS1_ENST00000491071.2_Silent_p.P267P|RIMS1_ENST00000517960.1_Silent_p.P267P|RIMS1_ENST00000522291.1_Silent_p.P267P|RIMS1_ENST00000518273.1_Silent_p.P267P|RIMS1_ENST00000520567.1_Silent_p.P267P	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	267					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGTGAACCTCCTAGAGAGA	0.498																																																	0													25	26	26					6																	72889607		1971	4153	6124	SO:0001819	synonymous_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.801T>C	6.37:g.72889607T>C			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.P267	ENST00000521978.1	37	c.801	CCDS47449.1	6																																																																																			RIMS1	-	NULL	ENSG00000079841		0.498	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	44	0	T			72889607	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.999	C	C	72889607	T	C	72889607	2	2	1	1	0	0	0	0	0	0	0	1	13412	1538	54	4		4	RIMS1	6	72889607	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	269	72889607	98225460	170	170											
RIMS1	22999	genome.wustl.edu	37	chr6	72922921	72922921	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagctcgacgagcagtTgctggtaagcaatagataat	14	10	11	6	2	0	2	0	1	0	1	1	4	0	2	0	1	4	6	0	1	5	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:72922921T>G	ENST00000521978.1	+	7	1678				RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000401910.3_Silent_p.V32V|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000523963.1_Silent_p.V32V	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GACGAGCAGTTGCTGGTAAGC	0.423																																																	0													194	169	177					6																	72922921		692	1591	2283	SO:0001627	intron_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1679-20555T>G	6.37:g.72922921T>G			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V32	ENST00000521978.1	37	c.96	CCDS47449.1	6																																																																																			RIMS1	-	NULL	ENSG00000079841		0.423	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	22	0	T			72922921	1	tier1	-	no_errors	ENST00000401910	ensembl	human	putative	74_37	silent	45.45	12	10	SNP	0.448	G	G	72922921	T	G	72922921	1	3	1	0	1	0	0	0	0	0	0	0	13412	1799	63	4		4	RIMS1	6	72922921	Intron	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	33314	72922921	98192146	171	171											
RIMS1	22999	genome.wustl.edu	37	chr6	73043483	73043483	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatccagccttagtgccaaAgtggttgccatagtgtctcg	9	11	11	10	1	1	1	0	0	1	1	3	1	2	1	4	1	3	1	4	1	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:73043483A>C	ENST00000521978.1	+	29	4311	c.4311A>C	c.(4309-4311)aaA>aaC	p.K1437N	RIMS1_ENST00000348717.5_Missense_Mutation_p.K1220N|RIMS1_ENST00000538414.1_Missense_Mutation_p.K243N|RIMS1_ENST00000264839.7_Missense_Mutation_p.K1286N|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.K757N|RIMS1_ENST00000491071.2_Missense_Mutation_p.K1260N|RIMS1_ENST00000517960.1_Missense_Mutation_p.K1220N|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1437					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTAGTGCCAAAGTGGTTGCCA	0.468																																																	0													77	81	79					6																	73043483		2032	4192	6224	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4311A>C	6.37:g.73043483A>C	ENSP00000428417:p.Lys1437Asn		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1437N	ENST00000521978.1	37	c.4311	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.14|18.14|18.14	3.557994|3.557994|3.557994	0.65538|0.65538|0.65538	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000522211|ENST00000517433	T;T;T;T;T;T;T;T;T|T|.	0.22945|0.24723|.	2.18;2.31;2.29;2.18;2.27;2.36;2.04;1.93;1.93|1.84|.	5.57|5.57|5.57	-2.58|-2.58|-2.58	0.06228|0.06228|0.06228	.|.|.	0.077507|0.077507|.	0.52532|0.52532|.	D|D|.	0.000064|0.000064|.	T|T|T	0.42585|0.42585|0.42585	0.1209|0.1209|0.1209	L|L|L	0.52905|0.52905|0.52905	1.665|1.665|1.665	0.38934|0.38934|0.38934	D|D|D	0.958001|0.958001|0.958001	P;D;P;B;D;P;D|.|.	0.64830|.|.	0.928;0.994;0.928;0.048;0.979;0.799;0.993|.|.	P;D;P;B;P;B;D|.|.	0.74348|.|.	0.597;0.983;0.515;0.043;0.702;0.202;0.977|.|.	T|T|T	0.49643|0.49643|0.49643	-0.8918|-0.8918|-0.8918	10|8|5	0.51188|0.87932|.	T|D|.	0.08|0|.	-21.5539|-21.5539|-21.5539	11.3213|11.3213|11.3213	0.49424|0.49424|0.49424	0.6603:0.0:0.3397:0.0|0.6603:0.0:0.3397:0.0|0.6603:0.0:0.3397:0.0	.|.|.	243;1286;757;1220;513;1260;1437|.|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.|.	.;.;.;.;.;.;RIMS1_HUMAN|.|.	N|T|R	1260;1286;1260;1220;1286;1220;1437;757;602;485;243|355|783	ENSP00000430101:K1260N;ENSP00000275037:K1220N;ENSP00000264839:K1286N;ENSP00000429959:K1220N;ENSP00000428417:K1437N;ENSP00000385649:K757N;ENSP00000389503:K602N;ENSP00000359448:K485N;ENSP00000439730:K243N|ENSP00000429338:K355T|.	ENSP00000264839:K1286N|ENSP00000429338:K355T|.	K|K|S	+|+|+	3|2|1	2|0|0	RIMS1|RIMS1|RIMS1	73100204|73100204|73100204	0.778000|0.778000|0.778000	0.28640|0.28640|0.28640	0.973000|0.973000|0.973000	0.42090|0.42090|0.42090	0.785000|0.785000|0.785000	0.44390|0.44390|0.44390	0.071000|0.071000|0.071000	0.14594|0.14594|0.14594	-0.604000|-0.604000|-0.604000	0.05760|0.05760|0.05760	-0.361000|-0.361000|-0.361000	0.07541|0.07541|0.07541	AAA|AAG|AGT	RIMS1	-	NULL	ENSG00000079841		0.468	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	30	0	A			73043483	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	54.17	11	13	SNP	0.995	C	C	73043483	A	C	73043483	3	2	1	1	0	0	0	0	1	0	0	0	13412	69	3	4	4588	4	RIMS1	6	73043483	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	120562	73043483	98071584	172	172											
REV3L	5980	genome.wustl.edu	37	chr6	111628686	111628686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttaggtcatcacacaCaggacagtgtaaggtagtaa	14	9	11	7	0	2	1	2	1	0	0	2	2	2	2	0	3	0	4	0	3	4	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:111628686C>T	ENST00000358835.3	-	32	9584	c.9130G>A	c.(9130-9132)Gtg>Atg	p.V3044M	REV3L_ENST00000368802.3_Missense_Mutation_p.V3044M|REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.V3044M|REV3L_ENST00000435970.1_Missense_Mutation_p.V2966M			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3044					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCATCACACACAGGACAGTGT	0.458								DNA polymerases (catalytic subunits)																																									0													199	166	177					6																	111628686		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.9130G>A	6.37:g.111628686C>T	ENSP00000351697:p.Val3044Met		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.V3044M	ENST00000358835.3	37	c.9130	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	33	5.276423	0.95459	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.71	5.71	0.89125	.	0.963722	0.08540	N	0.930700	T	0.68632	0.3022	M	0.79123	2.44	0.49299	D	0.999776	D	0.69078	0.997	D	0.72625	0.978	T	0.64575	-0.6375	10	0.62326	D	0.03	-3.8807	19.8505	0.96738	0.0:1.0:0.0:0.0	.	3044	O60673	DPOLZ_HUMAN	M	3044;3044;3044;2966	ENSP00000357792:V3044M;ENSP00000357795:V3044M;ENSP00000351697:V3044M;ENSP00000402003:V2966M	ENSP00000351697:V3044M	V	-	1	0	REV3L	111735379	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.599000	0.82757	2.688000	0.91661	0.655000	0.94253	GTG	REV3L	-	NULL	ENSG00000009413		0.458	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1		0	66	0	C	NM_002912		111628686	-1			no_errors	ENST00000358835	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	111628686	C	T	111628686	3	4	1	1	0	0	0	0	1	0	0	0	13285	478	17	3	270	3	REV3L	6	111628686	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	38585203	111628686	59486381	173	173											
NUS1	116150	genome.wustl.edu	37	chr6	118024775	118024775	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatttccaaggttcaaaTggttgtcctgatcctgattt	9	18	7	7	0	1	2	1	2	0	0	4	2	4	2	3	2	0	2	3	2	3	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:118024775T>C	ENST00000368494.3	+	4	868	c.699T>C	c.(697-699)aaT>aaC	p.N233N		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	233					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|intracellular cholesterol transport (GO:0032367)|protein glycosylation (GO:0006486)|sterol homeostasis (GO:0055092)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAGGTTCAAATGGTTGTCCTG	0.398																																																	0													148	133	138					6																	118024775		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013026	CCDS5118.1	6q22.1	2012-12-13	2006-11-24	2006-11-24	ENSG00000153989	ENSG00000153989			21042	protein-coding gene	gene with protein product	"Nogo-B receptor", "transport and golgi organization 14 homolog (Drosophila)"	610463	"chromosome 6 open reading frame 68"	C6orf68			Standard	NM_138459		Approved	MGC7199, NgBR, TANGO14	uc003pxw.3	Q96E22	OTTHUMG00000015458	ENST00000368494.3:c.699T>C	6.37:g.118024775T>C			B2RWQ4|O00251	Silent	SNP	pfam_UPP_synth-like,superfamily_UPP_synth-like	p.N233	ENST00000368494.3	37	c.699	CCDS5118.1	6																																																																																			NUS1	-	pfam_UPP_synth-like,superfamily_UPP_synth-like	ENSG00000153989		0.398	NUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUS1	HGNC	protein_coding	OTTHUMT00000041989.1	-	0	27	0	T	NM_138459		118024775	1	tier1	-	no_errors	ENST00000368494	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.979	C	C	118024775	T	C	118024775	2	2	1	1	0	0	0	0	0	0	0	1	10816	1461	51	4		4	NUS1	6	118024775	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	6396089	118024775	53090292	174	174											
ASF1A	25842	genome.wustl.edu	37	chr6	119228739	119228739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtccacatcagaaaactCactaaatgtcatgttagaat	16	11	6	8	0	3	2	3	0	0	2	4	2	4	2	1	1	1	1	1	1	6	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:119228739C>T	ENST00000229595.5	+	4	769	c.575C>T	c.(574-576)tCa>tTa	p.S192L	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	192	Required for interaction with HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCAGAAAACTCACTAAATGTC	0.393																																																	0													113	104	107					6																	119228739		1895	4115	6010	SO:0001583	missense	0			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.575C>T	6.37:g.119228739C>T	ENSP00000229595:p.Ser192Leu		Q6IA08|Q9P014	Missense_Mutation	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.S192L	ENST00000229595.5	37	c.575	CCDS47469.1	6	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716652	0.48622	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000015	T	0.28797	0.0714	N	0.08118	0	0.80722	D	1	B	0.28026	0.198	B	0.29862	0.108	T	0.15292	-1.0442	9	0.28530	T	0.3	-13.743	20.5211	0.99222	0.0:1.0:0.0:0.0	.	192	Q9Y294	ASF1A_HUMAN	L	192	.	ENSP00000229595:S192L	S	+	2	0	ASF1A	119270438	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.359000	0.66074	2.861000	0.98227	0.650000	0.86243	TCA	ASF1A	-	NULL	ENSG00000111875		0.393	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1A	HGNC	protein_coding	OTTHUMT00000361910.1	-	0	57	0	C	NM_014034		119228739	1	tier1	-	no_errors	ENST00000229595	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T	T	119228739	C	T	119228739	3	4	1	1	0	0	0	0	1	0	0	0	1038	838	29	3	476	3	ASF1A	6	119228739	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1203964	119228739	51886328	175	175											
THEMIS	387357	genome.wustl.edu	37	chr6	128134235	128134238	+	Frame_Shift_Del	DEL	ACTA	ACTA	-																															tctgcatccctagagaaattActaactaactgaacagtcat																								rs150659844		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	ACTA	ACTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:128134235_128134238delACTA	ENST00000368248.2	-	4	1696_1699	c.1548_1551delTAGT	c.(1546-1551)gttagtfs	p.VS516fs	THEMIS_ENST00000543064.1_Frame_Shift_Del_p.VS516fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.VS481fs|THEMIS_ENST00000368250.1_Frame_Shift_Del_p.VS437fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	516	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAGAGAAATTACTAACTAACTGAA	0.441																																																	0																																										SO:0001589	frameshift_variant	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1548_1551delTAGT	6.37:g.128134239_128134242delACTA	ENSP00000357231:p.Val516fs		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Del	DEL	NULL	p.S517fs	ENST00000368248.2	37	c.1551_1548	CCDS34534.1	6																																																																																			THEMIS	-	NULL	ENSG00000172673		0.441	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding			0	55	0	ACTA	NM_001010923		128134238	-1	tier1		no_errors	ENST00000543064	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	0.000:0.015:0.015:0.017	-	-	128134238	ACTA	-	128134235	7	5	1	1	0	1	0	1	0	0	0	0	15907	388	14	0	507	0	THEMIS	6	128134235	Frame_Shift_Del	DEL	ACTA	TCGA-2H-A9GF-01A-11D-A37C-09	8905496	128134235	42980832	176	176											
MED23	9439	genome.wustl.edu	37	chr6	131946009	131946009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacccattaaacgtacctggGtggaaggagaccagtctcaa	13	8	10	10	1	1	1	1	0	1	1	2	3	1	2	3	3	3	1	3	3	6	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:131946009G>T	ENST00000368068.3	-	4	459	c.280C>A	c.(280-282)Ccc>Acc	p.P94T	MED23_ENST00000368058.1_Missense_Mutation_p.P94T|MED23_ENST00000368060.3_Missense_Mutation_p.P94T|MED23_ENST00000540546.1_Missense_Mutation_p.P94T|MED23_ENST00000539158.1_Missense_Mutation_p.P94T|MED23_ENST00000368053.4_Missense_Mutation_p.P94T|MED23_ENST00000354577.4_Missense_Mutation_p.P94T|MED23_ENST00000403834.3_Missense_Mutation_p.P94T	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	94					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ACGTACCTGGGTGGAAGGAGA	0.368																																																	0													84	83	84					6																	131946009		2203	4300	6503	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.280C>A	6.37:g.131946009G>T	ENSP00000357047:p.Pro94Thr		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.P94T	ENST00000368068.3	37	c.280	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028265	0.75390	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000539158	T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	L	0.29908	0.895	0.80722	D	1	D;P;P	0.76494	0.999;0.858;0.829	D;B;B	0.78314	0.991;0.388;0.269	T	0.71351	-0.4619	10	0.18276	T	0.48	.	20.3138	0.98647	0.0:0.0:1.0:0.0	.	94;94;94	Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	T	94	ENSP00000346588:P94T;ENSP00000357047:P94T;ENSP00000384536:P94T;ENSP00000357039:P94T;ENSP00000357037:P94T;ENSP00000357032:P94T;ENSP00000437818:P94T;ENSP00000445072:P94T	ENSP00000346588:P94T	P	-	1	0	MED23	131987702	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.814000	0.96858	0.585000	0.79938	CCC	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.368	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	-	0	45	0	G			131946009	-1	tier1	-	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	131946009	G	T	131946009	3	4	1	1	0	0	0	0	1	0	0	0	9479	1261	44	3	3959	3	MED23	6	131946009	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3811774	131946009	39169058	177	177											
GRM1	2911	genome.wustl.edu	37	chr6	146755848	146755848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagctcccccgtgtcCgagtcggtgctctgcacccc	3	8	11	19	3	1	0	0	0	1	0	4	1	3	0	6	1	4	3	6	1	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:146755848C>T	ENST00000282753.1	+	8	3736	c.3501C>T	c.(3499-3501)tcC>tcT	p.S1167S	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Silent_p.S1167S|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1167	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCCCGTGTCCGAGTCGGTGC	0.642																																																	0													40	42	41					6																	146755848		2200	4299	6499	SO:0001819	synonymous_variant	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3501C>T	6.37:g.146755848C>T			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.S1167	ENST00000282753.1	37	c.3501	CCDS5209.1	6																																																																																			GRM1	-	pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5	ENSG00000152822		0.642	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	38	0	C	NM_000838		146755848	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.929	T	T	146755848	C	T	146755848	2	4	1	1	0	0	0	0	0	0	0	1	6823	639	23	1		1	GRM1	6	146755848	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	14809839	146755848	24359219	178	178											
SYNE1	23345	genome.wustl.edu	37	chr6	152469273	152469273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggacattgcagactccaGgtcccgactgaggtcatagt	9	10	11	11	1	2	2	1	1	1	1	4	4	4	3	2	3	1	1	2	3	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:152469273G>T	ENST00000367255.5	-	137	25484	c.24883C>A	c.(24883-24885)Ctg>Atg	p.L8295M	SYNE1_ENST00000539504.1_Missense_Mutation_p.L450M|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2819M|SYNE1_ENST00000354674.4_Missense_Mutation_p.L450M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8224M|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8224M|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7907M|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8295M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8295					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGACTCCAGGTCCCGACTG	0.587										HNSCC(10;0.0054)																																							0													61	59	59					6																	152469273		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24883C>A	6.37:g.152469273G>T	ENSP00000356224:p.Leu8295Met		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L8295M	ENST00000367255.5	37	c.24883	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517262	0.64634	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.60171	0.45;4.55;1.36;0.21;0.36;0.21;0.59;2.46;1.12;4.13	5.26	4.38	0.52667	.	0.000000	0.42821	D	0.000644	T	0.64136	0.2571	M	0.66939	2.045	0.47698	D	0.99949	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.995	D;D;D;D;P	0.91635	0.999;0.999;0.991;0.979;0.862	T	0.64525	-0.6387	10	0.33940	T	0.23	.	13.5612	0.61790	0.0754:0.0:0.9246:0.0	.	8295;8295;8224;8224;497	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	M	8295;450;941;8224;8295;8224;7907;2819;457;452;1217;450	ENSP00000356224:L8295M;ENSP00000441052:L450M;ENSP00000356226:L941M;ENSP00000396024:L8224M;ENSP00000265368:L8295M;ENSP00000390975:L8224M;ENSP00000341887:L7907M;ENSP00000349276:L2819M;ENSP00000356220:L1217M;ENSP00000346701:L450M	ENSP00000265368:L8295M	L	-	1	2	SYNE1	152510966	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.163000	0.42377	1.219000	0.43474	0.563000	0.77884	CTG	SYNE1	-	NULL	ENSG00000131018		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	36	0	G	NM_182961		152469273	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	T	T	152469273	G	T	152469273	3	4	1	1	0	0	0	0	1	0	0	0	15492	991	35	3	1623	3	SYNE1	6	152469273	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5713425	152469273	18645794	179	179											
FNDC1	84624	genome.wustl.edu	37	chr6	159659685	159659685	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaactaggaggagatggtCgaaccattgtaggtaaggga	14	9	14	4	1	0	1	0	0	0	1	1	5	0	3	1	5	2	2	1	5	6	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr6:159659685C>T	ENST00000297267.9	+	13	4368	c.4168C>T	c.(4168-4170)Cga>Tga	p.R1390*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.R1327*|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1390					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGGAGATGGTCGAACCATTGT	0.408																																																	0													82	71	75					6																	159659685		1847	4097	5944	SO:0001587	stop_gained	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4168C>T	6.37:g.159659685C>T	ENSP00000297267:p.Arg1390*		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R1390*	ENST00000297267.9	37	c.4168	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.978899|11.978899	0.99623|0.99623	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	.|.	.|.	.|.	6.03|6.03	5.14|5.14	0.70334|0.70334	.|.	0.067516|.	0.64402|.	D|.	0.000012|.	.|T	.|0.64371	.|0.2592	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66135	.|-0.5999	.|3	0.02654|.	T|.	1|.	-2.9057|-2.9057	16.4709|16.4709	0.84112|0.84112	0.1322:0.8678:0.0:0.0|0.1322:0.8678:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1390;1327|1285	.|.	ENSP00000297267:R1390X|.	R|S	+|+	1|2	2|0	FNDC1|FNDC1	159579675|159579675	0.960000|0.960000	0.32886|0.32886	0.695000|0.695000	0.30226|0.30226	0.947000|0.947000	0.59692|0.59692	2.276000|2.276000	0.43408|0.43408	1.514000|1.514000	0.48869|0.48869	0.655000|0.655000	0.94253|0.94253	CGA|TCG	FNDC1	-	NULL	ENSG00000164694		0.408	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0	50	0	C	NM_032532		159659685	1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	nonsense	41.38	17	12	SNP	0.902	T	T	159659685	C	T	159659685	4	4	1	1	0	0	0	0	0	1	0	0	5990	876	31	1	4218	1	FNDC1	6	159659685	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7190412	159659685	11455382	180	180											
TTYH3	80727	genome.wustl.edu	37	chr7	2695802	2695802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccgccctggtggactGccgcagcctgcatctggtga	5	8	12	16	2	2	1	1	1	1	0	2	2	2	2	5	3	3	2	5	3	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:2695802G>A	ENST00000258796.7	+	10	1302	c.1097G>A	c.(1096-1098)tGc>tAc	p.C366Y	TTYH3_ENST00000403167.1_Missense_Mutation_p.C195Y|TTYH3_ENST00000407643.1_Missense_Mutation_p.C334Y	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	366					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CTGGTGGACTGCCGCAGCCTG	0.682																																																	0													17	15	16					7																	2695802		2185	4276	6461	SO:0001583	missense	0				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1097G>A	7.37:g.2695802G>A	ENSP00000258796:p.Cys366Tyr		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	pfam_Tweety	p.C366Y	ENST00000258796.7	37	c.1097	CCDS34588.1	7	.	.	.	.	.	.	.	.	.	.	G	16.12	3.031867	0.54790	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167;ENST00000429448	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.45	3.56	0.40772	.	0.000000	0.85682	U	0.000000	T	0.45498	0.1345	M	0.87381	2.88	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.52305	-0.8593	10	0.87932	D	0	-4.5698	12.2774	0.54744	0.0842:0.0:0.9158:0.0	.	195;366	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	Y	366;334;195;26	ENSP00000258796:C366Y;ENSP00000385316:C334Y;ENSP00000385015:C195Y;ENSP00000413757:C26Y	ENSP00000258796:C366Y	C	+	2	0	TTYH3	2662328	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.495000	0.66912	0.876000	0.35872	-0.381000	0.06696	TGC	TTYH3	-	pfam_Tweety	ENSG00000136295		0.682	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTYH3	HGNC	protein_coding	OTTHUMT00000325082.2	-	0	59	0	G	XM_166523		2695802	1	tier1	-	no_errors	ENST00000258796	ensembl	human	known	74_37	missense	7.25	63	5	SNP	1.000	A	A	2695802	G	A	2695802	3	1	1	1	0	0	0	0	1	0	0	0	16790	1319	46	3	1135	3	TTYH3	7	2695802	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		2695802	156442861	181	181											
SDK1	221935	genome.wustl.edu	37	chr7	4153770	4153770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcagtggcccaagtcgtCagtgaccggctggagagaga	10	6	15	10	2	2	3	2	1	0	2	3	5	2	3	2	3	1	2	2	3	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:4153770C>T	ENST00000404826.2	+	25	3826	c.3687C>T	c.(3685-3687)gtC>gtT	p.V1229V	SDK1_ENST00000389531.3_Silent_p.V1229V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1229	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAAGTCGTCAGTGACCGGC	0.607																																																	0													62	62	62					7																	4153770		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3687C>T	7.37:g.4153770C>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1229	ENST00000404826.2	37	c.3687	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	53	0	C	NM_152744		4153770	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	11.39	70	9	SNP	0.002	T	T	4153770	C	T	4153770	2	4	1	1	0	0	0	0	0	0	0	1	14013	813	29	3		3	SDK1	7	4153770	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1457968	4153770	154984893	182	182											
THSD7A	221981	genome.wustl.edu	37	chr7	11485918	11485918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caatcaggggatacaaatggGaatttttacatttttccttc	12	15	7	7	0	1	0	1	0	0	0	3	2	2	2	1	3	2	0	1	3	5	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:11485918G>A	ENST00000423059.4	-	13	3085	c.2834C>T	c.(2833-2835)tCc>tTc	p.S945F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	945	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATACAAATGGGAATTTTTACA	0.358										HNSCC(18;0.044)																																							0													158	151	153					7																	11485918		1818	4083	5901	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2834C>T	7.37:g.11485918G>A	ENSP00000406482:p.Ser945Phe			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S945F	ENST00000423059.4	37	c.2834	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978448	0.74360	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61510	0.1	5.74	5.74	0.90152	.	0.263382	0.42964	D	0.000629	T	0.61912	0.2385	L	0.43152	1.355	0.35780	D	0.8216	P	0.40250	0.709	P	0.46510	0.519	T	0.67421	-0.5675	10	0.48119	T	0.1	.	19.9317	0.97122	0.0:0.0:1.0:0.0	.	945	Q9UPZ6	THS7A_HUMAN	F	945	ENSP00000406482:S945F	ENSP00000262042:S945F	S	-	2	0	THSD7A	11452443	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	3.132000	0.50523	2.716000	0.92895	0.591000	0.81541	TCC	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.358	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	-	0	42	0	G	XM_928187.2		11485918	-1	tier1	-	no_errors	ENST00000423059	ensembl	human	known	74_37	missense	28.33	43	17	SNP	0.849	A	A	11485918	G	A	11485918	3	1	1	1	0	0	0	0	1	0	0	0	15926	1174	41	3	2199	3	THSD7A	7	11485918	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	7332148	11485918	147652745	183	183											
FERD3L	222894	genome.wustl.edu	37	chr7	19184648	19184648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttgaggttgaacatcCgcttcctttcgcggatgttg	5	14	11	11	4	0	2	0	2	0	0	4	3	2	3	3	2	1	4	3	2	1	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:19184648C>T	ENST00000275461.3	-	1	396	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	113	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GTTGAACATCCGCTTCCTTTC	0.617																																																	0													99	80	87					7																	19184648		2203	4300	6503	SO:0001583	missense	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.338G>A	7.37:g.19184648C>T	ENSP00000275461:p.Arg113Gln		Q495K0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R113Q	ENST00000275461.3	37	c.338	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.581450	0.96565	.	.	ENSG00000146618	ENST00000275461	D	0.99722	-6.53	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96451	0.9334	10	0.87932	D	0	-21.6828	19.751	0.96268	0.0:1.0:0.0:0.0	.	113	Q96RJ6	FER3L_HUMAN	Q	113	ENSP00000275461:R113Q	ENSP00000275461:R113Q	R	-	2	0	FERD3L	19151173	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	7.818000	0.86416	2.693000	0.91896	0.650000	0.86243	CGG	FERD3L	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000146618		0.617	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	-	0	34	0	C			19184648	-1	tier1	-	no_errors	ENST00000275461	ensembl	human	known	74_37	missense	38.10	39	24	SNP	1.000	T	T	19184648	C	T	19184648	3	4	1	1	0	0	0	0	1	0	0	0	5838	652	23	1	166	1	FERD3L	7	19184648	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7698730	19184648	139954015	184	184											
DNAH11	8701	genome.wustl.edu	37	chr7	21583015	21583015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggccaggagagcgcGgagtttcgcccaagacgcgc	7	3	18	13	7	0	2	0	0	0	2	1	4	0	3	2	5	1	1	2	5	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:21583015G>A	ENST00000409508.3	+	1	183	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.R51Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	51	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAGCGCGGAGTTTCGCC	0.677									Kartagener syndrome																																								0													16	20	19					7																	21583015		1945	4015	5960	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.152G>A	7.37:g.21583015G>A	ENSP00000475939:p.Arg51Gln		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R51Q	ENST00000409508.3	37	c.152		7	.	.	.	.	.	.	.	.	.	.	G	9.140	1.013647	0.19277	.	.	ENSG00000105877	ENST00000328843	T	0.23348	1.91	3.99	-0.0544	0.13813	.	2.754390	0.01620	N	0.022944	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15292	-1.0442	10	0.15499	T	0.54	.	2.663	0.05032	0.3465:0.0:0.443:0.2104	.	51	Q96DT5	DYH11_HUMAN	Q	51	ENSP00000330671:R51Q	ENSP00000330671:R51Q	R	+	2	0	DNAH11	21549540	0.380000	0.25131	0.928000	0.36995	0.881000	0.50899	-0.057000	0.11768	0.182000	0.20032	-0.244000	0.11960	CGG	DNAH11	-	NULL	ENSG00000105877		0.677	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	34	0	G	NM_003777		21583015	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	10.98	73	9	SNP	0.119	A	A	21583015	G	A	21583015	3	1	1	1	0	0	0	0	1	0	0	0	4613	1116	39	1	154	1	DNAH11	7	21583015	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2398367	21583015	137555648	185	185											
DNAH11	8701	genome.wustl.edu	37	chr7	21598459	21598459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataagaacaaccataagTcctggtcctgttttacttca	13	13	5	10	0	1	1	1	0	0	1	3	1	3	1	3	1	3	1	3	1	6	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:21598459T>C	ENST00000409508.3	+	3	566	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	DNAH11_ENST00000328843.6_Missense_Mutation_p.S179P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	179	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAACCATAAGTCCTGGTCCTG	0.313									Kartagener syndrome																																								0													42	40	41					7																	21598459		1805	4073	5878	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.535T>C	7.37:g.21598459T>C	ENSP00000475939:p.Ser179Pro		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S179P	ENST00000409508.3	37	c.535		7	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219299	0.39201	.	.	ENSG00000105877	ENST00000328843	T	0.24538	1.85	6.02	1.94	0.25998	.	0.564156	0.17937	N	0.156964	T	0.18341	0.0440	L	0.43152	1.355	0.09310	N	1	B	0.27068	0.167	B	0.28011	0.085	T	0.14008	-1.0488	10	0.41790	T	0.15	.	4.0476	0.09779	0.1491:0.0711:0.119:0.6608	.	179	Q96DT5	DYH11_HUMAN	P	179	ENSP00000330671:S179P	ENSP00000330671:S179P	S	+	1	0	DNAH11	21564984	0.006000	0.16342	0.997000	0.53966	0.906000	0.53458	0.757000	0.26433	0.967000	0.38186	0.528000	0.53228	TCC	DNAH11	-	NULL	ENSG00000105877		0.313	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	46	0	T	NM_003777		21598459	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	23.91	70	22	SNP	0.007	C	C	21598459	T	C	21598459	3	2	1	1	0	0	0	0	1	0	0	0	4613	1667	58	4	545	4	DNAH11	7	21598459	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	15444	21598459	137540204	186	186											
FAM188B	84182	genome.wustl.edu	37	chr7	30915161	30915161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgtccaacgttttcaacGatgtggttgagctggattct	7	15	11	8	2	2	1	1	1	1	0	3	3	3	2	1	2	3	3	1	2	2	4	rs375320849		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:30915161G>A	ENST00000265299.6	+	15	1938	c.1861G>A	c.(1861-1863)Gat>Aat	p.D621N	AQP1_ENST00000434909.2_De_novo_Start_OutOfFrame|AQP1_ENST00000509504.1_Missense_Mutation_p.D84N|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	621										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTTTCAACGATGTGGTTGA	0.458																																																	0								G	ASN/ASP	0,4042		0,0,2021	273	273	273		1861	4.8	0.7	7		273	1,8357		0,1,4178	no	missense	FAM188B	NM_032222.2	23	0,1,6199	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	621/758	30915161	1,12399	2021	4179	6200	SO:0001583	missense	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1861G>A	7.37:g.30915161G>A	ENSP00000265299:p.Asp621Asn		Q71AZ7|Q9H6D2	Missense_Mutation	SNP	NULL	p.D621N	ENST00000265299.6	37	c.1861	CCDS43565.1	7	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671744	0.47781	0.0	1.2E-4	ENSG00000106125;ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000409881;ENST00000509504	T;T	0.34667	1.35;1.35	5.67	4.8	0.61643	.	0.102425	0.64402	D	0.000005	T	0.22781	0.0550	N	0.12663	0.25	0.80722	D	1	P;P	0.51449	0.673;0.945	B;B	0.41236	0.122;0.351	T	0.08269	-1.0730	10	0.87932	D	0	-19.7788	12.49	0.55895	0.0809:0.0:0.9191:0.0	.	141;621	B8ZZX1;Q4G0A6	.;F188B_HUMAN	N	621;141;84	ENSP00000265299:D621N;ENSP00000421315:D84N	ENSP00000265299:D621N	D	+	1	0	RP5-877J2.1;FAM188B	30881686	0.996000	0.38824	0.733000	0.30861	0.272000	0.26649	2.373000	0.44266	1.428000	0.47296	0.650000	0.86243	GAT	FAM188B	-	NULL	ENSG00000106125		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1	-	0	57	0	G	NM_032222		30915161	1	tier1	-	no_errors	ENST00000265299	ensembl	human	known	74_37	missense	23.46	62	19	SNP	0.994	A	A	30915161	G	A	30915161	3	1	1	1	0	0	0	0	1	0	0	0	5534	1058	37	1	1919	1	FAM188B	7	30915161	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	9316702	30915161	128223502	187	187											
GLI3	2737	genome.wustl.edu	37	chr7	42004322	42004322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgtgtcttgctgactgAagcccacggtttggtcatag	6	14	11	10	2	2	2	1	2	1	0	3	2	2	2	1	2	2	2	1	2	2	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:42004322A>G	ENST00000395925.3	-	15	4433	c.4349T>C	c.(4348-4350)tTc>tCc	p.F1450S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1450					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTGCTGACTGAAGCCCACGGT	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													61	61	61					7																	42004322		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4349T>C	7.37:g.42004322A>G	ENSP00000379258:p.Phe1450Ser		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F1450S	ENST00000395925.3	37	c.4349	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295104	0.60086	.	.	ENSG00000106571	ENST00000395925	T	0.14640	2.49	5.62	4.45	0.53987	.	0.270254	0.43260	D	0.000593	T	0.10380	0.0254	L	0.29908	0.895	0.80722	D	1	B	0.23442	0.085	B	0.17979	0.02	T	0.10989	-1.0606	10	0.40728	T	0.16	.	10.12	0.42614	0.7329:0.0:0.0:0.2671	.	1450	P10071	GLI3_HUMAN	S	1450	ENSP00000379258:F1450S	ENSP00000379258:F1450S	F	-	2	0	GLI3	41970847	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	6.270000	0.72563	0.930000	0.37217	-0.327000	0.08410	TTC	GLI3	-	NULL	ENSG00000106571		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	51	0	A	NM_000168		42004322	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	G	G	42004322	A	G	42004322	3	3	1	1	0	0	0	0	1	0	0	0	6465	246	9	4	397	4	GLI3	7	42004322	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	11089161	42004322	117134341	188	188											
ABCA13	154664	genome.wustl.edu	37	chr7	48321028	48321028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaagatgatggtcgtaCgtgtgctcaccatcgttgca	10	11	12	8	3	1	3	1	2	0	1	3	3	1	3	1	1	3	4	1	1	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:48321028C>T	ENST00000435803.1	+	19	8839	c.8815C>T	c.(8815-8817)Cgt>Tgt	p.R2939C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2939					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGGTCGTACGTGTGCTCAC	0.463																																																	0													113	113	113					7																	48321028		2028	4203	6231	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8815C>T	7.37:g.48321028C>T	ENSP00000411096:p.Arg2939Cys		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2939C	ENST00000435803.1	37	c.8815	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125141	0.56721	.	.	ENSG00000179869	ENST00000435803	D	0.87887	-2.31	4.81	3.79	0.43588	.	1.103590	0.06934	N	0.811540	D	0.87176	0.6112	L	0.29908	0.895	0.19945	N	0.99994	D;D	0.76494	0.999;0.999	P;P	0.56474	0.764;0.799	T	0.76658	-0.2878	10	0.87932	D	0	.	9.035	0.36282	0.276:0.724:0.0:0.0	.	641;2939	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	C	2939	ENSP00000411096:R2939C	ENSP00000411096:R2939C	R	+	1	0	ABCA13	48291574	0.023000	0.18921	0.004000	0.12327	0.003000	0.03518	2.501000	0.45389	2.358000	0.79984	0.650000	0.86243	CGT	ABCA13	-	NULL	ENSG00000179869		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	37	0	C	NM_152701		48321028	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	59.09	9	13	SNP	0.003	T	T	48321028	C	T	48321028	3	4	1	1	0	0	0	0	1	0	0	0	31	536	19	1	8718	1	ABCA13	7	48321028	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6316706	48321028	110817635	189	189											
PCLO	27445	genome.wustl.edu	37	chr7	82544559	82544559	+	Frame_Shift_Del	DEL	T	T	-																															atttttgttggtctgtaataTtttttctgaggccaaaagtg																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:82544559delT	ENST00000333891.9	-	7	13080	c.12743delA	c.(12742-12744)aatfs	p.N4248fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.N4248fs|PCLO_ENST00000437081.1_Frame_Shift_Del_p.N968fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTGTAATATTTTTTCTGAG	0.428																																																	0													34	34	34					7																	82544559		1838	4101	5939	SO:0001589	frameshift_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12743delA	7.37:g.82544559delT	ENSP00000334319:p.Asn4248fs			Frame_Shift_Del	DEL	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.N4248fs	ENST00000333891.9	37	c.12743	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0	67	0	T	NM_014510		82544559	-1	tier1		no_errors	ENST00000333891	ensembl	human	known	74_37	frame_shift_del	37.50	25	15	DEL	1.000	-	-	82544559	T	-	82544559	7	5	1	1	0	1	0	1	0	0	0	0	11622	1493	52	0	2778	0	PCLO	7	82544559	Frame_Shift_Del	DEL	T	TCGA-2H-A9GF-01A-11D-A37C-09	34223531	82544559	76594104	190	190											
CLDN12	9069	genome.wustl.edu	37	chr7	90042487	90042487	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgaacaagaagtttgAgccagtcttttcatttgact	11	14	7	9	0	3	4	1	3	2	1	3	4	3	4	2	0	2	1	2	0	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:90042487A>G	ENST00000287916.4	+	3	784	c.497A>G	c.(496-498)gAg>gGg	p.E166G	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.E166G|CLDN12_ENST00000535571.1_Missense_Mutation_p.E166G	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	166					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						AAGAAGTTTGAGCCAGTCTTT	0.438																																																	0													191	182	185					7																	90042487		2203	4300	6503	SO:0001583	missense	0			AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"Claudins"	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.497A>G	7.37:g.90042487A>G	ENSP00000287916:p.Glu166Gly		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	prints_Claudin12	p.E166G	ENST00000287916.4	37	c.497	CCDS5618.1	7	.	.	.	.	.	.	.	.	.	.	A	11.77	1.736534	0.30774	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T;T	0.75938	-0.81;-0.98;-0.98;-0.98;-0.72;-0.98	5.45	4.27	0.50696	.	0.148106	0.64402	D	0.000011	T	0.51890	0.1701	N	0.08118	0	0.45718	D	0.998622	B	0.09022	0.002	B	0.04013	0.001	T	0.46582	-0.9181	10	0.51188	T	0.08	-10.4959	7.1112	0.25390	0.7774:0.1493:0.0733:0.0	.	166	P56749	CLD12_HUMAN	G	166	ENSP00000411399:E166G;ENSP00000419053:E166G;ENSP00000287916:E166G;ENSP00000443476:E166G;ENSP00000378102:E166G;ENSP00000378103:E166G	ENSP00000287916:E166G	E	+	2	0	CLDN12	89880423	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.780000	0.55386	1.035000	0.39972	0.533000	0.62120	GAG	CLDN12	-	NULL	ENSG00000157224		0.438	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN12	HGNC	protein_coding	OTTHUMT00000059221.1	-	0	33	0	A	NM_012129		90042487	1	tier1	-	no_errors	ENST00000287916	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	G	G	90042487	A	G	90042487	3	3	1	1	0	0	0	0	1	0	0	0	3481	304	11	4	499	4	CLDN12	7	90042487	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	7497928	90042487	69096176	191	191											
COL1A2	1278	genome.wustl.edu	37	chr7	94052362	94052362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagttggccgaactggaGaagtaggtgcagttggtccc	8	9	15	9	1	0	1	0	0	0	1	2	3	2	1	3	4	2	4	3	4	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:94052362G>A	ENST00000297268.6	+	40	2968	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	833			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCGAACTGGAGAAGTAGGTGC	0.562										HNSCC(75;0.22)																																							0													154	143	147					7																	94052362		2203	4300	6503	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2497G>A	7.37:g.94052362G>A	ENSP00000297268:p.Glu833Lys		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.E833K	ENST00000297268.6	37	c.2497	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.300266	0.95574	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.94184	-3.37	5.23	5.23	0.72850	.	0.054577	0.64402	D	0.000001	D	0.91452	0.7302	L	0.48642	1.525	0.80722	D	1	B	0.29136	0.234	B	0.29524	0.103	D	0.89484	0.3752	10	0.51188	T	0.08	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	833	P08123	CO1A2_HUMAN	K	833;834	ENSP00000297268:E833K	ENSP00000297268:E833K	E	+	1	0	COL1A2	93890298	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	8.011000	0.88624	2.614000	0.88457	0.563000	0.77884	GAA	COL1A2	-	NULL	ENSG00000164692		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	-	0	61	0	G	NM_000089		94052362	1	tier1	-	no_errors	ENST00000297268	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	A	A	94052362	G	A	94052362	3	1	1	1	0	0	0	0	1	0	0	0	3685	943	33	3	2655	3	COL1A2	7	94052362	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4009875	94052362	65086301	192	192											
IMMP2L	83943	genome.wustl.edu	37	chr7	110303712	110303712	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggaagaacagattccaaTttctgccagcgctctggggg	10	8	14	9	1	2	2	0	0	2	2	3	4	3	4	2	4	3	1	2	4	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:110303712T>C	ENST00000405709.2	-	6	916	c.474A>G	c.(472-474)aaA>aaG	p.K158K	IMMP2L_ENST00000331762.3_Silent_p.K158K|IMMP2L_ENST00000415362.1_Silent_p.K158K|IMMP2L_ENST00000452895.1_Silent_p.K158K|IMMP2L_ENST00000450877.1_Silent_p.K140K|IMMP2L_ENST00000489381.1_5'UTR	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	158					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CAGATTCCAATTTCTGCCAGC	0.483																																																	0													76	76	76					7																	110303712		2203	4300	6503	SO:0001819	synonymous_variant	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)", "IMMP2L intronic transcript 1 (non-protein coding)"	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.474A>G	7.37:g.110303712T>C			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.K158	ENST00000405709.2	37	c.474	CCDS5753.1	7																																																																																			IMMP2L	-	superfamily_Peptidase_S24_S26A/B/C	ENSG00000184903		0.483	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	-	0	39	0	T	NM_032549		110303712	-1	tier1	-	no_errors	ENST00000331762	ensembl	human	known	74_37	silent	23.68	29	9	SNP	0.040	C	C	110303712	T	C	110303712	2	2	1	1	0	0	0	0	0	0	0	1	7744	1490	52	4		4	IMMP2L	7	110303712	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	16251350	110303712	48834951	193	193											
ASZ1	136991	genome.wustl.edu	37	chr7	117003691	117003691	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcaaatgaaaagaagaaAaccgaatccgcatatggtaa	19	7	8	7	2	0	3	0	1	0	2	1	4	1	3	2	1	2	3	2	1	9	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:117003691A>T	ENST00000284629.2	-	13	1449	c.1387T>A	c.(1387-1389)Ttt>Att	p.F463I		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AAAAGAAGAAAACCGAATCCG	0.318																																																	0													110	110	110					7																	117003691		2203	4299	6502	SO:0001583	missense	0			AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	1350	protein-coding gene	gene with protein product		605797	"ankyrin-like 1"	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.1387T>A	7.37:g.117003691A>T	ENSP00000284629:p.Phe463Ile			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F463I	ENST00000284629.2	37	c.1387	CCDS5772.1	7	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096343	0.36952	.	.	ENSG00000154438	ENST00000284629	T	0.65549	-0.16	5.23	2.97	0.34412	.	0.305652	0.36519	N	0.002556	T	0.38852	0.1056	N	0.17082	0.46	0.26395	N	0.976517	B;B	0.12013	0.002;0.005	B;B	0.06405	0.002;0.002	T	0.13845	-1.0494	10	0.33141	T	0.24	1.818	4.585	0.12279	0.6784:0.0:0.3216:0.0	.	454;463	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	I	463	ENSP00000284629:F463I	ENSP00000284629:F463I	F	-	1	0	ASZ1	116790927	0.050000	0.20438	0.997000	0.53966	0.687000	0.40016	-0.150000	0.10189	0.896000	0.36366	0.482000	0.46254	TTT	ASZ1	-	NULL	ENSG00000154438		0.318	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASZ1	HGNC	protein_coding	OTTHUMT00000138907.7	-	0	84	0	A	NM_130768		117003691	-1	tier1	-	no_errors	ENST00000284629	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.999	T	T	117003691	A	T	117003691	3	4	1	1	0	0	0	0	1	0	0	0	1070	14	1	5	44	5	ASZ1	7	117003691	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	6699979	117003691	42134972	194	194											
AASS	10157	genome.wustl.edu	37	chr7	121753715	121753715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctctattgttgtacacTcagtcataaactctatagac	12	14	6	9	0	4	1	2	0	2	1	4	2	4	1	0	0	3	3	0	0	6	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:121753715T>A	ENST00000393376.1	-	9	1198	c.1103A>T	c.(1102-1104)gAg>gTg	p.E368V	AASS_ENST00000417368.2_Missense_Mutation_p.E368V|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	368	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TGTTGTACACTCAGTCATAAA	0.378																																																	0													147	124	131					7																	121753715		2203	4300	6503	SO:0001583	missense	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1103A>T	7.37:g.121753715T>A	ENSP00000377040:p.Glu368Val		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E368V	ENST00000393376.1	37	c.1103	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683005	0.88542	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.83755	-1.76;-1.76	4.92	4.92	0.64577	Alanine dehydrogenase/PNT, C-terminal (1);	0.143948	0.64402	D	0.000008	D	0.86226	0.5882	M	0.69823	2.125	0.80722	D	1	P	0.48911	0.917	P	0.50754	0.649	D	0.86406	0.1745	10	0.41790	T	0.15	-16.5948	14.9993	0.71459	0.0:0.0:0.0:1.0	.	368	Q9UDR5	AASS_HUMAN	V	368	ENSP00000377040:E368V;ENSP00000403768:E368V	ENSP00000351834:E368V	E	-	2	0	AASS	121540951	1.000000	0.71417	0.879000	0.34478	0.878000	0.50629	7.785000	0.85724	2.190000	0.69967	0.533000	0.62120	GAG	AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.378	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	-	0	18	0	T	NM_005763		121753715	-1	tier1	-	no_errors	ENST00000393376	ensembl	human	known	74_37	missense	68.75	5	11	SNP	1.000	A	A	121753715	T	A	121753715	3	1	1	1	0	0	0	0	1	0	0	0	24	1551	54	5	1737	5	AASS	7	121753715	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	4750024	121753715	37384948	195	195											
AASS	10157	genome.wustl.edu	37	chr7	121756943	121756943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcccttacctccagtttgGgaaacttcttttaattcatg	8	17	6	10	0	2	0	1	0	1	0	4	1	4	1	3	1	2	1	3	1	3	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:121756943G>A	ENST00000393376.1	-	6	851	c.756C>T	c.(754-756)tcC>tcT	p.S252S	AASS_ENST00000417368.2_Silent_p.S252S|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	252	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CTCCAGTTTGGGAAACTTCTT	0.328																																																	0													78	86	84					7																	121756943		2203	4299	6502	SO:0001819	synonymous_variant	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.756C>T	7.37:g.121756943G>A			O95462	Silent	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.S252	ENST00000393376.1	37	c.756	CCDS5783.1	7																																																																																			AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.328	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1		0	53	0	G	NM_005763		121756943	-1			no_errors	ENST00000393376	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.155	A	A	121756943	G	A	121756943	2	1	1	1	0	0	0	0	0	0	0	1	24	1219	43	3		3	AASS	7	121756943	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3228	121756943	37381720	196	196											
IRF5	3663	genome.wustl.edu	37	chr7	128582203	128582203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaagccctggctggtggCccaggtgaacagctgccagt	7	7	15	12	0	0	2	0	2	0	0	0	2	0	2	3	4	4	3	3	4	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:128582203C>T	ENST00000402030.2	+	2	140	c.68C>T	c.(67-69)gCc>gTc	p.A23V	IRF5_ENST00000249375.4_Missense_Mutation_p.A23V|IRF5_ENST00000477535.1_Missense_Mutation_p.A23V|IRF5_ENST00000357234.5_Missense_Mutation_p.A23V|IRF5_ENST00000473745.1_Missense_Mutation_p.A23V	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	23					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGGCTGGTGGCCCAGGTGAAC	0.627																																																	0													35	41	39					7																	128582203		2203	4300	6503	SO:0001583	missense	0				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.68C>T	7.37:g.128582203C>T	ENSP00000385352:p.Ala23Val		A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.A23V	ENST00000402030.2	37	c.68	CCDS5808.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021647	0.93462	.	.	ENSG00000128604	ENST00000489702;ENST00000357234;ENST00000477535;ENST00000430204;ENST00000479582;ENST00000464557;ENST00000402030;ENST00000249375;ENST00000453794;ENST00000467002;ENST00000473745;ENST00000412326	D;D;D;D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.42	4.53	0.55603	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.56097	D	0.000029	D	0.98479	0.9493	M	0.82517	2.595	0.58432	D	0.999997	D;D;D;D;D;D;B;D	0.76494	0.997;0.986;0.997;0.999;0.999;0.986;0.235;0.999	D;D;D;D;D;D;B;D	0.81914	0.977;0.909;0.961;0.991;0.983;0.909;0.166;0.995	D	0.98395	1.0565	10	0.56958	D	0.05	-5.1845	12.4223	0.55527	0.0:0.9156:0.0:0.0844	.	23;23;23;23;23;23;23;23	B4DLN8;B7Z1M2;F5H3H8;E7EW54;E9PC81;Q1A7B4;Q13568;Q13568-2	.;.;.;.;.;.;IRF5_HUMAN;.	V	23	ENSP00000418037:A23V;ENSP00000349770:A23V;ENSP00000419950:A23V;ENSP00000417770:A23V;ENSP00000419056:A23V;ENSP00000385352:A23V;ENSP00000249375:A23V;ENSP00000417454:A23V;ENSP00000419149:A23V	ENSP00000249375:A23V	A	+	2	0	IRF5	128369439	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.741000	0.68638	2.543000	0.85770	0.561000	0.74099	GCC	IRF5	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	ENSG00000128604		0.627	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	HGNC	protein_coding	OTTHUMT00000350934.1	-	0	18	0	C	NM_001098627		128582203	1	tier1	-	no_errors	ENST00000357234	ensembl	human	known	74_37	missense	36.00	16	9	SNP	1.000	T	T	128582203	C	T	128582203	3	4	1	1	0	0	0	0	1	0	0	0	7860	739	26	3	70	3	IRF5	7	128582203	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6825260	128582203	30556460	197	197											
SLC4A2	6522	genome.wustl.edu	37	chr7	150767428	150767428	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacccggctggaggtggagCgagaggtgaggggagaacca	11	3	20	7	2	0	4	0	1	0	3	0	8	0	6	2	7	2	1	2	7	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr7:150767428C>T	ENST00000485713.1	+	10	2484	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	SLC4A2_ENST00000461735.1_Nonsense_Mutation_p.R468*|SLC4A2_ENST00000413384.2_Nonsense_Mutation_p.R482*|SLC4A2_ENST00000310317.5_Nonsense_Mutation_p.R400*|SLC4A2_ENST00000392826.2_Nonsense_Mutation_p.R473*	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	482					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.R482*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGTGGAGCGAGAGGTGAG	0.682																																																	1	Substitution - Nonsense(1)	endometrium(1)											32	36	35					7																	150767428		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1444C>T	7.37:g.150767428C>T	ENSP00000419412:p.Arg482*		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Nonsense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.R482*	ENST00000485713.1	37	c.1444	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	c	48	14.101286	0.99779	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	.	.	.	5.07	2.86	0.33363	.	0.000000	0.30989	N	0.008468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	11.4337	0.50056	0.3965:0.6035:0.0:0.0	.	.	.	.	X	482;482;400;473;468	.	ENSP00000311402:R400X	R	+	1	2	SLC4A2	150398361	0.711000	0.27906	0.946000	0.38457	0.969000	0.65631	0.077000	0.14738	1.213000	0.43380	0.550000	0.68814	CGA	SLC4A2	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.682	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1		0	70	0	C	NM_003040		150767428	1			no_errors	ENST00000413384	ensembl	human	known	74_37	nonsense	6.67	42	3	SNP	0.752	T	T	150767428	C	T	150767428	4	4	1	1	0	0	0	0	0	1	0	0	14699	760	27	1	1478	1	SLC4A2	7	150767428	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	22185225	150767428	8371235	198	198											
MCPH1	79648	genome.wustl.edu	37	chr8	6293568	6293568	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgttctttttgcacaGcgtaaatgtatgcagcccaa	9	16	8	8	1	1	0	0	0	1	0	1	0	1	0	1	0	4	5	1	0	4	7	rs201721894		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:6293568G>T	ENST00000344683.5	+	5	397		c.e5-1		MCPH1_ENST00000519480.1_Splice_Site|MCPH1_ENST00000522905.1_Splice_Site	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1						cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TTTTTGCACAGCGTAAATGTA	0.343																																					Colon(95;1448 1467 8277 34473 35819)												0													53	50	51					8																	6293568		1827	4086	5913	SO:0001630	splice_region_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.322-1G>T	8.37:g.6293568G>T			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Splice_Site	SNP	-	e5-1	ENST00000344683.5	37	c.322-1	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071204	0.55646	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9079	0.86133	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCPH1	6280976	1.000000	0.71417	0.876000	0.34364	0.649000	0.38597	5.793000	0.69060	2.664000	0.90586	0.655000	0.94253	.	MCPH1	-	-	ENSG00000147316		0.343	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	-	0	53	0	G	NM_024596	Intron	6293568	1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	splice_site	6.85	68	5	SNP	0.980	T	T	6293568	G	T	6293568	5	4	1	1	0	0	0	0	0	0	1	0	9436	985	34	3	339	3	MCPH1	8	6293568	Splice_Site	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		6293568	140070454	199	199											
EXTL3	2137	genome.wustl.edu	37	chr8	28574637	28574637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagattgagtctctgaGgtctagccttcaggaggccc	9	9	13	10	1	3	4	1	2	2	2	4	6	3	5	2	3	1	0	2	3	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:28574637G>A	ENST00000220562.4	+	3	1963	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	354					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GAGTCTCTGAGGTCTAGCCTT	0.577																																																	0													70	63	65					8																	28574637		2203	4300	6503	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.1061G>A	8.37:g.28574637G>A	ENSP00000220562:p.Arg354Lys		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R354K	ENST00000220562.4	37	c.1061	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	G	4.452	0.083694	0.08533	.	.	ENSG00000012232	ENST00000220562	D	0.97303	-4.33	5.41	4.51	0.55191	.	0.045668	0.85682	D	0.000000	D	0.93916	0.8053	L	0.36672	1.1	0.33678	D	0.611705	B	0.02656	0.0	B	0.06405	0.002	D	0.92940	0.6371	9	.	.	.	-12.2243	15.4076	0.74890	0.0:0.0:0.86:0.14	.	354	O43909	EXTL3_HUMAN	K	354	ENSP00000220562:R354K	.	R	+	2	0	EXTL3	28630556	0.956000	0.32656	0.205000	0.23548	0.570000	0.35934	5.236000	0.65354	1.454000	0.47793	0.561000	0.74099	AGG	EXTL3	-	pfam_Exostosin	ENSG00000012232		0.577	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	-	0	13	0	G	NM_001440		28574637	1	tier1	-	no_errors	ENST00000220562	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.630	A	A	28574637	G	A	28574637	3	1	1	1	0	0	0	0	1	0	0	0	5343	1000	35	3	1063	3	EXTL3	8	28574637	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	22281069	28574637	117789385	200	200											
TEX15	56154	genome.wustl.edu	37	chr8	30694695	30694695	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtatggatatgaagttccAaataaatgctcagaagaatt	17	11	9	4	0	1	3	1	1	0	2	2	5	2	4	1	1	1	3	1	1	8	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:30694695A>G	ENST00000256246.2	-	3	8030	c.7956T>C	c.(7954-7956)ttT>ttC	p.F2652F		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2652					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGAAGTTCCAAATAAATGCT	0.383																																																	0													139	140	140					8																	30694695		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7956T>C	8.37:g.30694695A>G				Silent	SNP	NULL	p.F2652	ENST00000256246.2	37	c.7956	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.383	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0	45	0	A			30694695	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.055	G	G	30694695	A	G	30694695	2	3	1	1	0	0	0	0	0	0	0	1	15826	127	5	4		4	TEX15	8	30694695	Silent	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	2120058	30694695	115669327	201	201											
PRKDC	5591	genome.wustl.edu	37	chr8	48773481	48773481	+	Missense_Mutation	SNP	C	C	T																															tgaatccccatttgctgcttCtctggcttctttcctaattt																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:48773481C>T	ENST00000314191.2	-	46	6090	c.6034G>A	c.(6034-6036)Gaa>Aaa	p.E2012K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2012K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2013					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTTGCTGCTTCTCTGGCTTCT	0.313								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													111	104	106					8																	48773481		1815	4072	5887	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6034G>A	8.37:g.48773481C>T	ENSP00000313420:p.Glu2012Lys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2012K	ENST00000314191.2	37	c.6034		8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330615	0.81690	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.35236	1.32;1.32	6.02	5.12	0.69794	NUC194 (1);Armadillo-type fold (1);	0.305411	0.34603	N	0.003839	T	0.45915	0.1366	L	0.59436	1.845	0.33954	D	0.644772	P;B	0.42161	0.772;0.171	P;B	0.46940	0.532;0.337	T	0.60632	-0.7225	10	0.44086	T	0.13	.	17.1117	0.86676	0.0:0.8733:0.1267:0.0	.	2012;2013	E7EUY0;P78527	.;PRKDC_HUMAN	K	2012	ENSP00000313420:E2012K;ENSP00000345182:E2012K	ENSP00000313420:E2012K	E	-	1	0	PRKDC	48936034	0.966000	0.33281	0.581000	0.28614	0.565000	0.35776	3.566000	0.53805	1.513000	0.48852	0.650000	0.86243	GAA	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.313	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	51	0	C	NM_001081640		48773481	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.979	T	T	48773481	C	T	48773481	3	4	1	1	0	0	0	0	1	0	0	0	12563	922	32	3	6517	3	PRKDC	8	48773481	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	18078786	48773481	97590541	202	202	1	2									
PRKDC	5591	genome.wustl.edu	37	chr8	48773490	48773490	+	Missense_Mutation	SNP	C	C	G																															atttgctgcttctctggcttCtttcctaatttcaatgtact																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:48773490C>G	ENST00000314191.2	-	46	6081	c.6025G>C	c.(6025-6027)Gaa>Caa	p.E2009Q	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2009Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2010					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCTCTGGCTTCTTTCCTAATT	0.303								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													108	101	103					8																	48773490		1815	4072	5887	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6025G>C	8.37:g.48773490C>G	ENSP00000313420:p.Glu2009Gln		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2009Q	ENST00000314191.2	37	c.6025		8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603003	0.87157	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.35421	1.31;1.31	6.02	6.02	0.97574	NUC194 (1);Armadillo-type fold (1);	0.055418	0.64402	D	0.000001	T	0.52484	0.1737	M	0.64404	1.975	0.58432	D	0.999999	P;P	0.46277	0.875;0.875	P;P	0.51895	0.683;0.683	T	0.41610	-0.9499	10	0.46703	T	0.11	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	2009;2010	E7EUY0;P78527	.;PRKDC_HUMAN	Q	2009	ENSP00000313420:E2009Q;ENSP00000345182:E2009Q	ENSP00000313420:E2009Q	E	-	1	0	PRKDC	48936043	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	6.231000	0.72307	2.857000	0.98124	0.650000	0.86243	GAA	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.303	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	42	0	C	NM_001081640		48773490	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	35.48	19	11	SNP	1.000	G	G	48773490	C	G	48773490	3	3	1	1	0	0	0	0	1	0	0	0	12563	922	32	5	6526	5	PRKDC	8	48773490	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	9	48773490	97590532	203	203	1	2									
PDE7A	5150	genome.wustl.edu	37	chr8	66639418	66639418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaaccttgtataaagttGccaagtaatggttagtttta	13	15	7	6	0	0	0	0	0	0	0	0	0	0	0	2	1	2	5	2	1	8	9			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:66639418G>A	ENST00000401827.3	-	8	1258	c.815C>T	c.(814-816)gCa>gTa	p.A272V	PDE7A_ENST00000396642.3_Missense_Mutation_p.A272V|PDE7A_ENST00000518667.1_5'UTR|PDE7A_ENST00000379419.4_Missense_Mutation_p.A246V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	272	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GTATAAAGTTGCCAAGTAATG	0.313																																																	0													51	51	51					8																	66639418		2203	4300	6503	SO:0001583	missense	0			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.815C>T	8.37:g.66639418G>A	ENSP00000385632:p.Ala272Val		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A272V	ENST00000401827.3	37	c.815	CCDS56538.1	8	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922572	0.92319	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	D;D;D	0.87412	-1.92;-1.92;-2.25	5.31	5.31	0.75309	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95896	0.8664	H	0.96142	3.775	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.81914	0.995;0.915;0.995	D	0.97187	0.9855	10	0.87932	D	0	.	18.9808	0.92755	0.0:0.0:1.0:0.0	.	272;272;246	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	V	272;246;272	ENSP00000385632:A272V;ENSP00000368730:A246V;ENSP00000379881:A272V	ENSP00000368730:A246V	A	-	2	0	PDE7A	66801972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.750000	0.98875	2.467000	0.83353	0.467000	0.42956	GCA	PDE7A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000205268		0.313	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7A	HGNC	protein_coding	OTTHUMT00000378905.1		0	40	0	G			66639418	-1			no_errors	ENST00000401827	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	66639418	G	A	66639418	3	1	1	1	0	0	0	0	1	0	0	0	11690	1319	46	3	689	3	PDE7A	8	66639418	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	17865928	66639418	79724604	204	204											
TERF1	7013	genome.wustl.edu	37	chr8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-																															aggtgcaggtgggggcccccGaggaggaggaggaggaggag																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																																	0																																										SO:0001651	inframe_deletion	0			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.E58in_frame_del	ENST00000276603.5	37	c.163_165	CCDS6211.1	8																																																																																			TERF1	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000147601		0.65	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1		0	34	0	GAG	NM_017489		73921286	1	tier1		no_errors	ENST00000276603	ensembl	human	known	74_37	in_frame_del	9.09	20	2	DEL	0.121:0.130:0.144	-	-	73921286	GAG	-	73921284	7	5	1	1	0	1	0	1	0	0	0	0	15808	1059	37	0	165	0	TERF1	8	73921284	In_Frame_Del	DEL	GAG	TCGA-2H-A9GF-01A-11D-A37C-09	7281866	73921284	72442738	205	205											
SLC10A5	347051	genome.wustl.edu	37	chr8	82606447	82606447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcctactgtatatataaGaattgacaggcatcatgatc	15	13	6	7	0	1	3	1	2	0	1	3	3	2	3	1	1	1	2	1	1	7	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:82606447G>T	ENST00000518568.1	-	1	1962	c.761C>A	c.(760-762)tCt>tAt	p.S254Y		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	254						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)	p.S254Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTATATATAAGAATTGACAGG	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											73	76	75					8																	82606447		2203	4300	6503	SO:0001583	missense	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.761C>A	8.37:g.82606447G>T	ENSP00000428612:p.Ser254Tyr		B2RN26	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.S254Y	ENST00000518568.1	37	c.761	CCDS34915.1	8	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190542	0.58017	.	.	ENSG00000253598	ENST00000518568	T	0.12147	2.71	6.01	5.12	0.69794	.	0.123130	0.37261	N	0.002173	T	0.36908	0.0984	M	0.70275	2.135	0.41973	D	0.990769	D	0.89917	1.0	D	0.76071	0.987	T	0.17961	-1.0352	10	0.56958	D	0.05	-12.2582	15.0279	0.71682	0.0:0.143:0.857:0.0	.	254	Q5PT55	NTCP5_HUMAN	Y	254	ENSP00000428612:S254Y	ENSP00000428612:S254Y	S	-	2	0	SLC10A5	82769002	1.000000	0.71417	0.938000	0.37757	0.441000	0.31987	3.847000	0.55895	1.530000	0.49136	0.585000	0.79938	TCT	SLC10A5	-	pfam_BilAc/Na_symport	ENSG00000253598		0.373	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1		0	25	0	G	XM_294493		82606447	-1			no_errors	ENST00000518568	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.999	T	T	82606447	G	T	82606447	3	4	1	1	0	0	0	0	1	0	0	0	14422	942	33	3	557	3	SLC10A5	8	82606447	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	8685163	82606447	63757575	206	206											
SLC26A7	115111	genome.wustl.edu	37	chr8	92378943	92378943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacttgatgatatcagcAaggtaggatcaatggtttga	13	11	11	6	0	2	3	2	3	0	0	2	4	2	4	1	3	2	3	1	3	4	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:92378943A>G	ENST00000276609.3	+	14	1863	c.1624A>G	c.(1624-1626)Aag>Gag	p.K542E	SLC26A7_ENST00000309536.2_Missense_Mutation_p.K542E|SLC26A7_ENST00000523719.1_Missense_Mutation_p.K542E|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TGATATCAGCAAGGTAGGATC	0.323																																																	0													95	99	98					8																	92378943		2203	4300	6503	SO:0001583	missense	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1624A>G	8.37:g.92378943A>G	ENSP00000276609:p.Lys542Glu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K542E	ENST00000276609.3	37	c.1624	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	A	19.91	3.914291	0.72983	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.93019	-3.15;-3.15;-3.15	5.33	5.33	0.75918	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.211991	0.34700	N	0.003744	D	0.95711	0.8605	M	0.70595	2.14	0.27784	N	0.943047	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.91115	0.4925	10	0.30854	T	0.27	.	12.8205	0.57690	1.0:0.0:0.0:0.0	.	542;542	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	E	542	ENSP00000428849:K542E;ENSP00000276609:K542E;ENSP00000309504:K542E	ENSP00000276609:K542E	K	+	1	0	SLC26A7	92448119	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.217000	0.65252	2.025000	0.59659	0.533000	0.62120	AAG	SLC26A7	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	ENSG00000147606		0.323	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	-	0	33	0	A			92378943	1	tier1	-	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	G	G	92378943	A	G	92378943	3	3	1	1	0	0	0	0	1	0	0	0	14567	131	5	4	1674	4	SLC26A7	8	92378943	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	9772496	92378943	53985079	207	207											
ZFPM2	23414	genome.wustl.edu	37	chr8	106814592	106814592	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggttcagcagagatttcTtgacgtagccaacctcaata	12	11	8	10	1	3	2	2	1	1	1	3	3	3	2	2	1	3	3	2	1	4	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:106814592T>C	ENST00000407775.2	+	8	2532	c.2282T>C	c.(2281-2283)cTt>cCt	p.L761P	ZFPM2_ENST00000378472.4_Missense_Mutation_p.L492P|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L629P|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L629P|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	761					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGAGATTTCTTGACGTAGCC	0.498																																																	0													54	55	54					8																	106814592		2003	4174	6177	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2282T>C	8.37:g.106814592T>C	ENSP00000384179:p.Leu761Pro		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L761P	ENST00000407775.2	37	c.2282	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358084	0.41801	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.33865	1.39;1.9;1.9;3.1	5.58	5.58	0.84498	.	0.057851	0.64402	D	0.000002	T	0.56615	0.1997	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52290	-0.8595	10	0.27785	T	0.31	.	15.7379	0.77859	0.0:0.0:0.0:1.0	.	761	Q8WW38	FOG2_HUMAN	P	761;629;629;492	ENSP00000384179:L761P;ENSP00000430757:L629P;ENSP00000428720:L629P;ENSP00000367733:L492P	ENSP00000367733:L492P	L	+	2	0	ZFPM2	106883768	1.000000	0.71417	0.772000	0.31596	0.462000	0.32619	6.194000	0.72082	2.123000	0.65237	0.459000	0.35465	CTT	ZFPM2	-	NULL	ENSG00000169946		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	21	0	T			106814592	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.995	C	C	106814592	T	C	106814592	3	2	1	1	0	0	0	0	1	0	0	0	17706	1609	56	4	2312	4	ZFPM2	8	106814592	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	14435649	106814592	39549430	208	208											
CSMD3	114788	genome.wustl.edu	37	chr8	113249507	113249507	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaactgttaaggtcatGggttgtttccttcctttgaa	8	17	9	7	0	1	1	1	1	0	0	3	1	3	1	2	2	1	4	2	2	4	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:113249507G>T	ENST00000297405.5	-	67	10783	c.10539C>A	c.(10537-10539)ccC>ccA	p.P3513P	CSMD3_ENST00000455883.2_Silent_p.P3344P|CSMD3_ENST00000352409.3_Silent_p.P3443P|CSMD3_ENST00000343508.3_Silent_p.P3473P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3513						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAAGGTCATGGGTTGTTTCC	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													202	183	189					8																	113249507		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10539C>A	8.37:g.113249507G>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P3513	ENST00000297405.5	37	c.10539	CCDS6315.1	8																																																																																			CSMD3	-	NULL	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	52	0	G	NM_052900		113249507	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	10.29	61	7	SNP	0.755	T	T	113249507	G	T	113249507	2	4	1	1	0	0	0	0	0	0	0	1	3955	1335	47	3		3	CSMD3	8	113249507	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	6434915	113249507	33114515	209	209											
CSMD3	114788	genome.wustl.edu	37	chr8	114111053	114111053	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttccatttgaaaatcagtAaatatgagtgaaattgtgtc	14	15	7	5	0	2	3	1	3	1	0	4	3	3	3	1	0	0	1	1	0	6	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:114111053A>C	ENST00000297405.5	-	5	1093	c.849T>G	c.(847-849)ttT>ttG	p.F283L	CSMD3_ENST00000455883.2_Missense_Mutation_p.F283L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F283L|CSMD3_ENST00000343508.3_Missense_Mutation_p.F243L|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	283	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAAATCAGTAAATATGAGTG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													99	95	96					8																	114111053		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.849T>G	8.37:g.114111053A>C	ENSP00000297405:p.Phe283Leu		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F283L	ENST00000297405.5	37	c.849	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241481	0.58995	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.4	5.4	0.78164	CUB (5);	0.000000	0.64402	D	0.000001	T	0.67720	0.2923	M	0.90252	3.1	0.30553	N	0.765312	B;D;D;D	0.69078	0.152;0.996;0.997;0.995	B;D;D;D	0.80764	0.08;0.98;0.994;0.986	T	0.72994	-0.4122	10	0.54805	T	0.06	.	10.1376	0.42717	0.925:0.0:0.075:0.0	.	283;283;283;243	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	L	243;283;283;283	ENSP00000345799:F243L;ENSP00000297405:F283L;ENSP00000412263:F283L;ENSP00000343124:F283L	ENSP00000297405:F283L	F	-	3	2	CSMD3	114180229	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.966000	0.49208	2.182000	0.69389	0.528000	0.53228	TTT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	58	0	A	NM_052900		114111053	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	C	C	114111053	A	C	114111053	3	2	1	1	0	0	0	0	1	0	0	0	3955	359	13	4	10542	4	CSMD3	8	114111053	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	861546	114111053	32252969	210	210											
SNTB1	6641	genome.wustl.edu	37	chr8	121561073	121561073	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttgtccagtgggagAggtccctgctggtctctgct	3	13	13	12	0	1	1	0	0	1	1	5	2	4	1	3	3	3	3	3	3	0	1	rs373208447		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:121561073A>T	ENST00000395601.3	-	6	1676	c.1262T>A	c.(1261-1263)cTc>cAc	p.L421H	SNTB1_ENST00000517992.1_Missense_Mutation_p.L421H	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	421	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCAGTGGGAGAGGTCCCTGCT	0.527																																																	0													220	168	186					8																	121561073		2203	4300	6503	SO:0001583	missense	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.1262T>A	8.37:g.121561073A>T	ENSP00000378965:p.Leu421His		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.L421H	ENST00000395601.3	37	c.1262	CCDS6334.1	8	.	.	.	.	.	.	.	.	.	.	A	21.0	4.079362	0.76528	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.77489	-1.1;-1.1	5.68	5.68	0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88786	0.6531	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.90427	0.4421	10	0.87932	D	0	.	15.9389	0.79739	1.0:0.0:0.0:0.0	.	421	Q13884	SNTB1_HUMAN	H	421	ENSP00000378965:L421H;ENSP00000431124:L421H	ENSP00000378965:L421H	L	-	2	0	SNTB1	121630254	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	9.339000	0.96797	2.160000	0.67779	0.533000	0.62120	CTC	SNTB1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000172164		0.527	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	-	0	72	0	A	NM_021021		121561073	-1	tier1	-	no_errors	ENST00000395601	ensembl	human	known	74_37	missense	16.13	78	15	SNP	1.000	T	T	121561073	A	T	121561073	3	4	1	1	0	0	0	0	1	0	0	0	14917	304	11	5	366	5	SNTB1	8	121561073	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	7450020	121561073	24802949	211	211											
MYC	4609	genome.wustl.edu	37	chr8	128751156	128751156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcaagactccagcgccttCtctccgtcctcggattctct	5	12	7	17	4	2	1	0	0	2	1	9	2	5	2	4	1	1	1	4	1	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:128751156C>T	ENST00000259523.6	+	2	1853	c.648C>T	c.(646-648)ttC>ttT	p.F216F	MYC_ENST00000524013.1_Silent_p.F230F|MYC_ENST00000377970.2_Silent_p.F231F			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	216					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.F216F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CCAGCGCCTTCTCTCCGTCCT	0.672		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"																																			Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	1	Substitution - coding silent(1)	ovary(1)											39	36	37					8																	128751156		2066	4118	6184	SO:0001819	synonymous_variant	0				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.648C>T	8.37:g.128751156C>T			A8WFE7|P01107|Q14026	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.F231	ENST00000259523.6	37	c.693		8																																																																																			MYC	-	pfam_Tscrpt_reg_Myc_N	ENSG00000136997		0.672	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	HGNC	protein_coding	OTTHUMT00000250278.1	-	0	29	0	C			128751156	1	tier1	-	no_errors	ENST00000377970	ensembl	human	known	74_37	silent	51.61	15	16	SNP	1.000	T	T	128751156	C	T	128751156	2	4	1	1	0	0	0	0	0	0	0	1	10054	912	32	3		3	MYC	8	128751156	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7190083	128751156	17612866	212	212											
C8orf73	642475	genome.wustl.edu	37	chr8	144652708	144652708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcatgtcgggggagcaCgggctgcgggccagcttgtg	4	8	20	9	3	0	0	0	0	0	0	1	1	0	1	1	5	3	4	1	5	0	2	rs201505046		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:144652708C>T	ENST00000398882.3	-	5	1096	c.840G>A	c.(838-840)ccG>ccA	p.P280P	MROH6_ENST00000524906.1_5'Flank|MROH6_ENST00000533679.1_5'Flank|MROH6_ENST00000534459.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000532704.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	280																	CGGGGGAGCACGGGCTGCGGG	0.642																																																	0								C		0,4182		0,0,2091	53	60	58		840	-9.6	0	8		58	3,8427		0,3,4212	no	coding-synonymous	C8orf73	NM_001100878.1		0,3,6303	TT,TC,CC		0.0356,0.0,0.0238		280/720	144652708	3,12609	2091	4215	6306	SO:0001819	synonymous_variant	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.840G>A	8.37:g.144652708C>T			A8MWB1	Silent	SNP	superfamily_ARM-type_fold	p.P280	ENST00000398882.3	37	c.840	CCDS47928.1	8																																																																																			MROH6	-	NULL	ENSG00000204839		0.642	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH6	HGNC	protein_coding	OTTHUMT00000382330.3	-	0	25	0	C	NM_001100878		144652708	-1	tier1	rs201505046	no_errors	ENST00000398882	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.000	T	T	144652708	C	T	144652708	2	4	1	1	0	0	0	0	0	0	0	1	2442	523	19	1		1	C8orf73	8	144652708	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	15901552	144652708	1711314	213	213											
GPT	2875	genome.wustl.edu	37	chr8	145730842	145730843	+	Frame_Shift_Del	DEL	CT	CT	-																															accactgccgccctcgtgcgCtctgtgtcatcaaccctggc																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr8:145730842_145730843delCT	ENST00000528431.1	+	6	866_867	c.709_710delCT	c.(709-711)ctcfs	p.L237fs	GPT_ENST00000394955.2_Frame_Shift_Del_p.L237fs			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	237					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	CCCTCGTGCGCTCTGTGTCATC	0.733																																																	0																																										SO:0001589	frameshift_variant	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.709_710delCT	8.37:g.145730844_145730845delCT	ENSP00000433586:p.Leu237fs		B0YJ18|D3DWM7|P78398|Q93076	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.V239fs	ENST00000528431.1	37	c.709_710	CCDS6430.1	8																																																																																			GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.733	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1		0	13	0	CT			145730843	1	tier1		no_errors	ENST00000394955	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	0.996:0.997	-	-	145730843	CT	-	145730842	7	5	1	1	0	1	0	1	0	0	0	0	6764	797	28	0	727	0	GPT	8	145730842	Frame_Shift_Del	DEL	CT	TCGA-2H-A9GF-01A-11D-A37C-09	1078134	145730842	633180	214	214											
DMRT1	1761	genome.wustl.edu	37	chr9	847138	847138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtccccaccactgcagCttcaggtaatctggaggggc	8	8	12	13	0	2	0	1	0	1	0	3	1	3	1	3	4	2	3	3	4	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:847138C>T	ENST00000382276.3	+	2	682	c.533C>T	c.(532-534)gCt>gTt	p.A178V	DMRT1_ENST00000569227.1_Missense_Mutation_p.A20V	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	178					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		ACCACTGCAGCTTCAGGTAAT	0.597																																																	0													30	30	30					9																	847138		2203	4299	6502	SO:0001583	missense	0			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"DM domain expressed in testis 1"	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.533C>T	9.37:g.847138C>T	ENSP00000371711:p.Ala178Val		B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.A178V	ENST00000382276.3	37	c.533	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	7.168	0.587011	0.13749	.	.	ENSG00000137090	ENST00000382276	T	0.19394	2.15	4.12	2.23	0.28157	.	0.806015	0.11521	N	0.555707	T	0.10208	0.0250	N	0.13098	0.295	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.17098	0.017;0.01	T	0.41484	-0.9506	10	0.11182	T	0.66	.	5.5918	0.17305	0.0:0.6503:0.1624:0.1873	.	178;178	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	V	178	ENSP00000371711:A178V	ENSP00000371711:A178V	A	+	2	0	DMRT1	837138	0.076000	0.21285	0.111000	0.21465	0.747000	0.42532	1.413000	0.34725	0.382000	0.24878	0.655000	0.94253	GCT	DMRT1	-	pfam_DMRT1-like	ENSG00000137090		0.597	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	-	0	78	0	C	NM_021951		847138	1	tier1	-	no_errors	ENST00000382276	ensembl	human	known	74_37	missense	30.00	49	21	SNP	0.037	T	T	847138	C	T	847138	3	4	1	1	0	0	0	0	1	0	0	0	4599	797	28	3	539	3	DMRT1	9	847138	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		847138	140366293	215	215											
PTPRD	5789	genome.wustl.edu	37	chr9	8341195	8341195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcataatattaacaaggCgatttttgaatttattacat	15	16	6	4	1	0	1	0	1	0	0	0	2	0	1	0	2	2	1	0	2	7	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:8341195C>T	ENST00000381196.4	-	38	5564	c.5021G>A	c.(5020-5022)cGc>cAc	p.R1674H	PTPRD_ENST00000537002.1_Missense_Mutation_p.R1264H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1661H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1652H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1268H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1267H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1267H|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1674H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1674H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1267H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1264H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1674	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATTAACAAGGCGATTTTTGAA	0.388										TSP Lung(15;0.13)																																							0													192	205	201					9																	8341195		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5021G>A	9.37:g.8341195C>T	ENSP00000370593:p.Arg1674His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R1674H	ENST00000381196.4	37	c.5021	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842492	0.91197	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.048867	0.85682	D	0.000000	T	0.80808	0.4694	H	0.99847	4.84	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.85130	0.984;0.984;0.984;0.984;0.997;0.972;0.997;0.948;0.994	D	0.89092	0.3483	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1267;1258;1267;1268;1264;1264;1661;1674;1674	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	H	1674;1674;1661;1652;1268;1267;1264;1264;1145;1674;1267;1267	ENSP00000370593:R1674H;ENSP00000348812:R1674H;ENSP00000353187:R1661H;ENSP00000351293:R1652H;ENSP00000347373:R1268H;ENSP00000380741:R1267H;ENSP00000380735:R1264H;ENSP00000440515:R1264H;ENSP00000438164:R1674H;ENSP00000417093:R1267H;ENSP00000380731:R1267H	.	R	-	2	0	PTPRD	8331195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	CGC	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153707		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	47	0	C			8341195	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	64.71	6	11	SNP	1.000	T	T	8341195	C	T	8341195	3	4	1	1	0	0	0	0	1	0	0	0	12844	768	27	1	741	1	PTPRD	9	8341195	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7494057	8341195	132872236	216	216											
SLC24A2	25769	genome.wustl.edu	37	chr9	19516401	19516401	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagggcagtgggagcCtgtgcagaagtgaagcaggg	10	4	20	7	0	0	2	0	1	0	1	0	4	0	4	2	4	4	3	2	4	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:19516401C>T	ENST00000341998.2	-	10	1798		c.e10-1		SLC24A2_ENST00000286344.3_Splice_Site	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2						cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CAGTGGGAGCCTGTGCAGAAG	0.517																																																	0													37	39	38					9																	19516401		2203	4300	6503	SO:0001630	splice_region_variant	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1737-1G>A	9.37:g.19516401C>T			B7ZLL8|Q9NTN5|Q9NZQ4	Splice_Site	SNP	-	e10-1	ENST00000341998.2	37	c.1737-1	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165581	0.78339	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4603	0.90736	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC24A2	19506401	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	7.771000	0.85420	2.351000	0.79841	0.655000	0.94253	.	SLC24A2	-	-	ENSG00000155886		0.517	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	-	0	39	0	C	NM_020344	Intron	19516401	-1	tier1	-	no_errors	ENST00000341998	ensembl	human	known	74_37	splice_site	40.00	6	4	SNP	1.000	T	T	19516401	C	T	19516401	5	4	1	1	0	0	0	0	0	0	1	0	14511	695	24	3	253	3	SLC24A2	9	19516401	Splice_Site	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	11175206	19516401	121697030	217	217											
IFT74	80173	genome.wustl.edu	37	chr9	26984298	26984298	+	Frame_Shift_Del	DEL	A	A	-																															ctgaagttaataaacttcagAagggaatagaaatgtacaat																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:26984298delA	ENST00000443698.1	+	5	520	c.349delA	c.(349-351)aagfs	p.K117fs	IFT74_ENST00000429045.2_Frame_Shift_Del_p.K117fs|IFT74_ENST00000380062.5_Frame_Shift_Del_p.K117fs|IFT74_ENST00000433700.1_Frame_Shift_Del_p.K117fs	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74	117					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|keratinocyte development (GO:0003334)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|nucleus (GO:0005634)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAACTTCAGAAGGGAATAGA	0.269																																																	0													37	39	38					9																	26984298		1786	4020	5806	SO:0001589	frameshift_variant	0			AK023707	CCDS43793.1, CCDS47955.1	9p21.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000096872	ENSG00000096872		"Intraflagellar transport homologs"	21424	protein-coding gene	gene with protein product	"capillary morphogenesis protein 1"	608040	"coiled-coil domain containing 2", "intraflagellar transport 74 homolog (Chlamydomonas)"	CCDC2		11683410	Standard	NM_001099223		Approved	CMG1, CMG-1, FLJ22621	uc003zqg.4	Q96LB3	OTTHUMG00000021028	ENST00000443698.1:c.349delA	9.37:g.26984298delA	ENSP00000404122:p.Lys117fs		Q3B789|Q5VY34|Q6PGQ8|Q9H643|Q9H8G7	Frame_Shift_Del	DEL	NULL	p.K117fs	ENST00000443698.1	37	c.349	CCDS43793.1	9																																																																																			IFT74	-	NULL	ENSG00000096872		0.269	IFT74-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT74	HGNC	protein_coding	OTTHUMT00000055476.2		0	54	0	A	NM_025103		26984298	1	tier1		no_errors	ENST00000380062	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	1.000	-	-	26984298	A	-	26984298	7	5	1	1	0	1	0	1	0	0	0	0	7590	247	9	0	363	0	IFT74	9	26984298	Frame_Shift_Del	DEL	A	TCGA-2H-A9GF-01A-11D-A37C-09	7467897	26984298	114229133	218	218											
TAF1L	138474	genome.wustl.edu	37	chr9	32631536	32631536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgcacattctcaattaGctgtttcccgaagacaattt	11	14	5	11	1	2	1	2	0	1	1	4	2	3	1	1	0	2	3	1	0	4	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:32631536G>T	ENST00000242310.4	-	1	4131	c.4042C>A	c.(4042-4044)Cta>Ata	p.L1348I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1348					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCAATTAGCTGTTTCCCG	0.428																																																	0													241	240	241					9																	32631536		2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4042C>A	9.37:g.32631536G>T	ENSP00000418379:p.Leu1348Ile		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L1348I	ENST00000242310.4	37	c.4042	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625084	0.66901	.	.	ENSG00000122728	ENST00000242310	T	0.08896	3.04	1.56	1.56	0.23342	.	0.000000	0.85682	D	0.000000	T	0.10981	0.0268	L	0.47016	1.485	0.47659	D	0.999489	P	0.45283	0.855	P	0.48334	0.574	T	0.06607	-1.0817	10	0.46703	T	0.11	.	8.618	0.33845	0.0:0.0:1.0:0.0	.	1348	Q8IZX4	TAF1L_HUMAN	I	1348	ENSP00000418379:L1348I	ENSP00000418379:L1348I	L	-	1	2	TAF1L	32621536	1.000000	0.71417	0.974000	0.42286	0.609000	0.37215	4.690000	0.61731	0.507000	0.28148	0.195000	0.17529	CTA	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0	82	0	G			32631536	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	60.24	33	50	SNP	1.000	T	T	32631536	G	T	32631536	3	4	1	1	0	0	0	0	1	0	0	0	15570	962	34	3	1442	3	TAF1L	9	32631536	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5647238	32631536	108581895	219	219											
TPM2	7169	genome.wustl.edu	37	chr9	35689162	35689162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcagtggccttcttctcgGcctgctccagtttctcctgg	3	14	9	15	1	4	0	1	0	3	0	7	0	5	0	4	3	1	2	4	3	0	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:35689162G>T	ENST00000360958.2	-	2	325	c.221C>A	c.(220-222)gCc>gAc	p.A74D	TPM2_ENST00000378300.5_Missense_Mutation_p.A74D|TPM2_ENST00000378292.3_Missense_Mutation_p.A74D|TPM2_ENST00000329305.2_Missense_Mutation_p.A74D	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	74					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTCTTCTCGGCCTGCTCCAG	0.577																																																	0													172	169	170					9																	35689162		2203	4300	6503	SO:0001583	missense	0				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"Tropomyosins"	12011	protein-coding gene	gene with protein product	"nemaline myopathy type 4"	190990	"arthrogryposis multiplex congenital, distal, type 1"	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.221C>A	9.37:g.35689162G>T	ENSP00000354219:p.Ala74Asp		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.A74D	ENST00000360958.2	37	c.221	CCDS6587.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.441633	0.96187	.	.	ENSG00000198467	ENST00000378300;ENST00000378292;ENST00000329305;ENST00000360958	T;D;D;D	0.97598	1.18;-4.45;-4.45;-4.45	4.94	4.94	0.65067	.	.	.	.	.	D	0.98927	0.9636	H	0.95437	3.67	0.80722	D	1	P;P;D;P;P	0.64830	0.801;0.554;0.994;0.896;0.868	D;P;D;P;P	0.74674	0.925;0.761;0.984;0.867;0.878	D	0.99357	1.0916	9	0.62326	D	0.03	-3.5491	17.9425	0.89029	0.0:0.0:1.0:0.0	.	74;74;74;74;74	B4DGC2;A7XZE4;P07951;Q5TCU8;P07951-2	.;.;TPM2_HUMAN;.;.	D	74	ENSP00000367550:A74D;ENSP00000367542:A74D;ENSP00000367541:A74D;ENSP00000354219:A74D	ENSP00000367541:A74D	A	-	2	0	TPM2	35679162	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.644000	0.98468	2.559000	0.86315	0.561000	0.74099	GCC	TPM2	-	pfam_Tropomyosin	ENSG00000198467		0.577	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1		0	55	0	G	NM_003289		35689162	-1			no_errors	ENST00000360958	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	35689162	G	T	35689162	3	4	1	1	0	0	0	0	1	0	0	0	16454	1203	42	3	832	3	TPM2	9	35689162	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3057626	35689162	105524269	220	220											
TRPM3	80036	genome.wustl.edu	37	chr9	73399029	73399029	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagttacctacccgccttcTtctgagtatttatgcccaaa	11	13	5	12	1	2	1	0	1	2	0	2	1	2	1	4	0	3	2	4	0	6	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:73399029T>C	ENST00000377111.2	-	7	1383	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	TRPM3_ENST00000357533.2_Silent_p.E382E|TRPM3_ENST00000396285.1_Silent_p.E227E|TRPM3_ENST00000423814.3_Silent_p.E407E|TRPM3_ENST00000360823.2_Silent_p.E252E|TRPM3_ENST00000361823.5_Silent_p.E227E|TRPM3_ENST00000377110.3_Silent_p.E380E|TRPM3_ENST00000396292.4_Silent_p.E252E|TRPM3_ENST00000396283.1_Silent_p.E252E|TRPM3_ENST00000377105.1_Silent_p.E227E|TRPM3_ENST00000377101.1_Silent_p.E227E|TRPM3_ENST00000408909.2_Silent_p.E227E|TRPM3_ENST00000377106.1_Silent_p.E252E|TRPM3_ENST00000358082.3_Silent_p.E252E|TRPM3_ENST00000396280.5_Silent_p.E227E	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	405					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCCGCCTTCTTCTGAGTATT	0.512																																																	0													91	86	88					9																	73399029		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1140A>G	9.37:g.73399029T>C			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.E407	ENST00000377111.2	37	c.1221		9	.	.	.	.	.	.	.	.	.	.	T	9.693	1.152467	0.21371	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.61	4.47	0.54385	.	.	.	.	.	T	0.63022	0.2476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60429	-0.7265	4	.	.	.	-21.643	11.6881	0.51499	0.0:0.0691:0.0:0.9309	.	.	.	.	G	227	.	.	R	-	1	2	TRPM3	72588849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.136000	0.42121	1.062000	0.40625	0.533000	0.62120	AGA	TRPM3	-	NULL	ENSG00000083067		0.512	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	78	0	T	NM_206945		73399029	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	34.15	27	14	SNP	1.000	C	C	73399029	T	C	73399029	2	2	1	1	0	0	0	0	0	0	0	1	16635	1606	56	4		4	TRPM3	9	73399029	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	37709867	73399029	67814402	221	221											
OSTF1	26578	genome.wustl.edu	37	chr9	77748217	77748217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattctttcaggcaacttGagctggttgagagagtgttt	11	14	11	5	0	2	3	1	2	1	1	2	4	2	3	0	2	2	4	0	2	3	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:77748217G>T	ENST00000346234.6	+	6	408	c.258G>T	c.(256-258)ttG>ttT	p.L86F		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	86					ossification (GO:0001503)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)				endometrium(1)|skin(1)	2						CAGGCAACTTGAGCTGGTTGA	0.393																																																	0													110	110	110					9																	77748217		2203	4300	6503	SO:0001583	missense	0			U63717	CCDS6651.1	9q13-q21.2	2013-01-10			ENSG00000134996	ENSG00000134996		"Ankyrin repeat domain containing"	8510	protein-coding gene	gene with protein product		610180				10092216	Standard	NM_012383		Approved	SH3P2, OSF, bA235O14.1	uc004ajv.4	Q92882	OTTHUMG00000020033	ENST00000346234.6:c.258G>T	9.37:g.77748217G>T	ENSP00000340836:p.Leu86Phe		Q5W126|Q96IJ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt	p.L86F	ENST00000346234.6	37	c.258	CCDS6651.1	9	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776598	0.70107	.	.	ENSG00000134996	ENST00000346234	T	0.68479	-0.33	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.065552	0.64402	D	0.000008	T	0.75250	0.3824	M	0.68317	2.08	0.80722	D	1	D;D	0.64830	0.994;0.987	P;P	0.55303	0.773;0.602	T	0.75797	-0.3191	10	0.52906	T	0.07	-11.4523	14.2896	0.66268	0.0:0.0:0.8512:0.1488	.	86;86	A8K646;Q92882	.;OSTF1_HUMAN	F	86	ENSP00000340836:L86F	ENSP00000340836:L86F	L	+	3	2	OSTF1	76938037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.974000	0.56852	2.885000	0.99019	0.655000	0.94253	TTG	OSTF1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134996		0.393	OSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTF1	HGNC	protein_coding	OTTHUMT00000052704.1	-	0	92	0	G	NM_012383		77748217	1	tier1	-	no_errors	ENST00000346234	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	77748217	G	T	77748217	3	4	1	1	0	0	0	0	1	0	0	0	11336	1281	45	3	280	3	OSTF1	9	77748217	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4349188	77748217	63465214	222	222											
SEMA4D	10507	genome.wustl.edu	37	chr9	91994331	91994331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcttaaccctctcctctGacaggcactggtacacccca	8	11	6	16	0	3	1	0	1	3	0	4	1	3	1	4	2	2	3	4	2	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:91994331G>A	ENST00000450295.1	-	16	2653	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S626L|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S626L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S626L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	626	Ig-like C2-type.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCTCCTCTGACAGGCACTG	0.532																																																	0													230	233	232					9																	91994331		2203	4300	6503	SO:0001583	missense	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1877C>T	9.37:g.91994331G>A	ENSP00000416523:p.Ser626Leu		B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S626L	ENST00000450295.1	37	c.1877	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365039	0.82463	.	.	ENSG00000187764	ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.9	3.99	0.46301	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.268582	0.38058	N	0.001830	T	0.26774	0.0655	M	0.77103	2.36	0.47621	D	0.999474	P	0.35844	0.524	P	0.54060	0.741	T	0.01829	-1.1265	10	0.66056	D	0.02	.	13.5785	0.61888	0.0755:0.0:0.9245:0.0	.	626	Q92854	SEM4D_HUMAN	L	626	ENSP00000416523:S626L;ENSP00000405102:S626L;ENSP00000348822:S626L;ENSP00000388768:S626L	ENSP00000348822:S626L	S	-	2	0	SEMA4D	91184151	1.000000	0.71417	0.755000	0.31263	0.892000	0.51952	4.638000	0.61353	1.271000	0.44313	0.561000	0.74099	TCA	SEMA4D	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000187764		0.532	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	-	0	53	0	G	NM_006378		91994331	-1	tier1	-	no_errors	ENST00000356444	ensembl	human	known	74_37	missense	36.36	21	12	SNP	0.985	A	A	91994331	G	A	91994331	3	1	1	1	0	0	0	0	1	0	0	0	14079	1294	45	3	1285	3	SEMA4D	9	91994331	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	14246114	91994331	49219100	223	223											
OR13C9	286362	genome.wustl.edu	37	chr9	107379982	107379982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgacattcttcctgcaGaaaggcaattgtactacaaa	14	12	7	8	0	1	3	0	2	1	1	2	3	2	3	1	1	3	3	1	1	5	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:107379982G>A	ENST00000259362.1	-	1	503	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TCTTCCTGCAGAAAGGCAATT	0.443																																																	0													123	104	110					9																	107379982		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.504C>T	9.37:g.107379982G>A			Q6IFL2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F168	ENST00000259362.1	37	c.504	CCDS35093.1	9																																																																																			OR13C9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000136839		0.443	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	-	0	64	0	G			107379982	-1	tier1	-	no_errors	ENST00000259362	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.982	A	A	107379982	G	A	107379982	2	1	1	1	0	0	0	0	0	0	0	1	10978	933	33	3		3	OR13C9	9	107379982	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	15385651	107379982	33833449	224	224											
ROD1	9991	genome.wustl.edu	37	chr9	115024805	115024805	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtaggactgtgccttcAttggaaggacctccagaaag	11	8	12	10	0	1	1	1	0	0	1	2	4	2	4	4	4	1	1	4	4	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:115024805A>G	ENST00000374255.2	-	6	657	c.510T>C	c.(508-510)aaT>aaC	p.N170N	PTBP3_ENST00000374257.1_Silent_p.N142N|PTBP3_ENST00000343327.2_Silent_p.N75N|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000458258.1_Silent_p.N176N|PTBP3_ENST00000334318.6_Silent_p.N173N			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	170					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTGTGCCTTCATTGGAAGGAC	0.502																																																	0													70	68	69					9																	115024805		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.510T>C	9.37:g.115024805A>G			B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.N176	ENST00000374255.2	37	c.528	CCDS6784.1	9																																																																																			PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.502	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	54	0	A			115024805	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.838	G	G	115024805	A	G	115024805	2	3	1	1	0	0	0	0	0	0	0	1	13564	214	8	4		4	ROD1	9	115024805	Silent	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	7644823	115024805	26188626	225	225											
FAM129B	64855	genome.wustl.edu	37	chr9	130287350	130287350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttacctggtaaggagttGccaatgagctccaggtattg	9	12	11	9	0	0	1	0	1	0	0	1	2	1	2	4	3	3	4	4	3	4	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:130287350G>T	ENST00000373312.3	-	4	621	c.408C>A	c.(406-408)ggC>ggA	p.G136G	FAM129B_ENST00000373314.3_Silent_p.G123G|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	136	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTAAGGAGTTGCCAATGAGCT	0.597																																																	0													128	106	113					9																	130287350		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.408C>A	9.37:g.130287350G>T			Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	pfscan_Pleckstrin_homology	p.G136	ENST00000373312.3	37	c.408	CCDS35145.1	9																																																																																			FAM129B	-	pfscan_Pleckstrin_homology	ENSG00000136830		0.597	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1	-	0	35	0	G	NM_022833		130287350	-1	tier1	-	no_errors	ENST00000373312	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.976	T	T	130287350	G	T	130287350	2	4	1	1	0	0	0	0	0	0	0	1	5456	1306	46	3		3	FAM129B	9	130287350	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	15262545	130287350	10926081	226	226											
RPL7A	6130	genome.wustl.edu	37	chr9	136218133	136218133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagatccgccgtcactgggGtggcaatgtcctgggtccta	6	10	13	12	2	2	1	2	0	0	1	5	1	5	1	4	4	0	1	4	4	2	1	rs199861563		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:136218133G>A	ENST00000323345.6	+	8	743	c.713G>A	c.(712-714)gGt>gAt	p.G238D	SNORD24_ENST00000383884.1_RNA|SNORD36A_ENST00000362874.1_RNA|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000315731.4_Missense_Mutation_p.G123D|SNORD36C_ENST00000516733.1_RNA|RPL7A_ENST00000463740.1_3'UTR|SURF1_ENST00000495952.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	238					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CGTCACTGGGGTGGCAATGTC	0.448																																																	0													77	74	75					9																	136218133		2203	4300	6503	SO:0001583	missense	0			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.713G>A	9.37:g.136218133G>A	ENSP00000361076:p.Gly238Asp		P11518|Q5T8U4	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.G238D	ENST00000323345.6	37	c.713	CCDS6965.1	9	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	18.72	3.684851	0.68157	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.74315	-0.51;-0.83	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	H	0.97564	4.03	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	D	0.94302	0.7538	10	0.87932	D	0	.	17.9044	0.88914	0.0:0.0:1.0:0.0	.	238	P62424	RL7A_HUMAN	D	238;123	ENSP00000361076:G238D;ENSP00000361071:G123D	ENSP00000361071:G123D	G	+	2	0	RPL7A	135207954	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	9.081000	0.94049	2.481000	0.83766	0.561000	0.74099	GGT	RPL7A	-	prints_Ribosomal_L7A/L8	ENSG00000148303		0.448	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1		0	95	0	G	NM_000972		136218133	1			no_errors	ENST00000323345	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	136218133	G	A	136218133	3	1	1	1	0	0	0	0	1	0	0	0	13645	1261	44	3	743	3	RPL7A	9	136218133	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5930783	136218133	4995298	227	227											
EHMT1	79813	genome.wustl.edu	37	chr9	140728899	140728899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgcccgtgcgcgtgttCatggcccaccaggacctgcg	4	8	14	15	4	1	0	1	0	0	0	1	1	1	1	4	3	3	1	4	3	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr9:140728899C>T	ENST00000460843.1	+	26	3666	c.3639C>T	c.(3637-3639)ttC>ttT	p.F1213F		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1213	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCGCGTGTTCATGGCCCACC	0.682																																																	0													70	64	66					9																	140728899		2202	4300	6502	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3639C>T	9.37:g.140728899C>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.F1213	ENST00000460843.1	37	c.3639	CCDS7050.2	9																																																																																			EHMT1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000181090		0.682	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0	89	0	C	NM_024757		140728899	1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	silent	28.99	48	20	SNP	1.000	T	T	140728899	C	T	140728899	2	4	1	1	0	0	0	0	0	0	0	1	4997	825	29	3		3	EHMT1	9	140728899	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4510766	140728899	484532	228	228											
MASTL	84930	genome.wustl.edu	37	chr10	27459837	27459837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaacgttagcctctaaaaGaaatgctgttgcttttcgaa	14	12	8	7	2	1	1	0	0	1	1	2	3	1	1	1	0	4	4	1	0	7	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:27459837G>C	ENST00000375940.4	+	8	2006	c.1949G>C	c.(1948-1950)aGa>aCa	p.R650T	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.R650T|MASTL_ENST00000375946.4_Missense_Mutation_p.R650T			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	650	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCTCTAAAAGAAATGCTGTT	0.388																																																	0													87	87	87					10																	27459837		2203	4300	6503	SO:0001583	missense	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1949G>C	10.37:g.27459837G>C	ENSP00000365107:p.Arg650Thr		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R650T	ENST00000375940.4	37	c.1949	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528791	0.27387	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22743	1.94;1.94;1.94	5.28	0.0194	0.14120	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.400107	0.29185	N	0.012894	T	0.11879	0.0289	L	0.33485	1.01	0.28055	N	0.933208	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.14578	0.011;0.004;0.007	T	0.12041	-1.0563	10	0.45353	T	0.12	-7.2766	2.5328	0.04707	0.3017:0.1244:0.448:0.1259	.	650;650;650	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	T	650	ENSP00000365113:R650T;ENSP00000343446:R650T;ENSP00000365107:R650T	ENSP00000343446:R650T	R	+	2	0	MASTL	27499843	1.000000	0.71417	0.452000	0.26994	0.931000	0.56810	1.023000	0.30065	0.033000	0.15463	0.591000	0.81541	AGA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.388	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	-	0	43	0	G	NM_032844		27459837	1	tier1	-	no_errors	ENST00000375940	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.990	C	C	27459837	G	C	27459837	3	2	1	1	0	0	0	0	1	0	0	0	9366	942	33	5	1979	5	MASTL	10	27459837	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		27459837	108074910	229	229											
C10orf71	118461	genome.wustl.edu	37	chr10	50530731	50530731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctccgaggacacatcCttccatgactcctatctggc	8	11	7	15	1	2	1	0	1	2	0	6	3	5	2	4	2	1	1	4	2	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:50530731C>T	ENST00000374144.3	+	3	429	c.141C>T	c.(139-141)tcC>tcT	p.S47S	C10orf71_ENST00000323868.4_Silent_p.S47S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	47										endometrium(1)	1						AGGACACATCCTTCCATGACT	0.562																																																	0													47	51	50					10																	50530731		2105	4217	6322	SO:0001819	synonymous_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.141C>T	10.37:g.50530731C>T			A0AVL8	Silent	SNP	NULL	p.S47	ENST00000374144.3	37	c.141	CCDS44387.1	10																																																																																			C10orf71	-	NULL	ENSG00000177354		0.562	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0	44	0	C	NM_199459		50530731	1	tier1	-	no_errors	ENST00000374144	ensembl	human	known	74_37	silent	33.33	30	15	SNP	0.947	T	T	50530731	C	T	50530731	2	4	1	1	0	0	0	0	0	0	0	1	1619	668	24	3		3	C10orf71	10	50530731	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	23070894	50530731	85004016	230	230											
HKDC1	80201	genome.wustl.edu	37	chr10	71026453	71026453	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaagatggcagtggaaaAggggcagcactgatcactgc	13	6	14	8	0	2	3	2	1	0	2	2	4	2	4	0	4	2	3	0	4	3	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:71026453A>G	ENST00000354624.5	+	18	2827	c.2694A>G	c.(2692-2694)aaA>aaG	p.K898K	RP11-227H15.5_ENST00000413220.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	898	Hexokinase type-2 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.K898K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCAGTGGAAAAGGGGCAGCAC	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											156	136	142					10																	71026453		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.2694A>G	10.37:g.71026453A>G			B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.K898	ENST00000354624.5	37	c.2694	CCDS7288.1	10																																																																																			HKDC1	-	pfam_Hexokinase_C,prints_Hexokinase	ENSG00000156510		0.478	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	HGNC	protein_coding	OTTHUMT00000048389.1		0	50	0	A	NM_025130		71026453	1			no_errors	ENST00000354624	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	G	G	71026453	A	G	71026453	2	3	1	1	0	0	0	0	0	0	0	1	7220	69	3	4		4	HKDC1	10	71026453	Silent	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	20495722	71026453	64508294	231	231											
VCL	7414	genome.wustl.edu	37	chr10	75867026	75867026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactcaggatatcggatcCtgggagctgtggccaaggtc	8	9	15	9	1	1	0	1	0	0	0	4	4	2	4	2	6	1	1	2	6	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:75867026C>T	ENST00000211998.4	+	17	2567	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	VCL_ENST00000417648.2_Intron|VCL_ENST00000372755.3_Silent_p.L825L	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	825	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATATCGGATCCTGGGAGCTGT	0.542																																																	0													102	82	88					10																	75867026		2203	4300	6503	SO:0001819	synonymous_variant	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2473C>T	10.37:g.75867026C>T			Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.L825	ENST00000211998.4	37	c.2473	CCDS7341.1	10																																																																																			VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.542	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0	55	0	C	NM_003373, NM_014000		75867026	1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	silent	25.64	29	10	SNP	1.000	T	T	75867026	C	T	75867026	2	4	1	1	0	0	0	0	0	0	0	1	17188	680	24	3		3	VCL	10	75867026	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4840573	75867026	59667721	232	232											
POLR3A	11128	genome.wustl.edu	37	chr10	79782097	79782097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaggaacatcttcagctgGgattcgtttaaataaattca	14	13	8	6	1	3	1	2	0	1	1	4	3	3	3	0	2	2	2	0	2	6	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:79782097G>T	ENST00000372371.3	-	6	828	c.691C>A	c.(691-693)Cca>Aca	p.P231T	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	231					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.P231S(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCTTCAGCTGGGATTCGTTTA	0.408																																																	1	Substitution - Missense(1)	skin(1)											53	53	53					10																	79782097		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.691C>A	10.37:g.79782097G>T	ENSP00000361446:p.Pro231Thr		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.P231T	ENST00000372371.3	37	c.691	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	9.108	1.005765	0.19199	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.66638	-0.22	5.06	5.06	0.68205	RNA polymerase Rpb1, domain 1 (1);	0.105288	0.64402	D	0.000003	T	0.65883	0.2734	L	0.48877	1.53	0.54753	D	0.999988	B	0.28584	0.216	B	0.37198	0.243	T	0.61758	-0.6997	9	.	.	.	-10.8613	18.4459	0.90683	0.0:0.0:1.0:0.0	.	231	O14802	RPC1_HUMAN	T	231	ENSP00000361446:P231T	.	P	-	1	0	POLR3A	79452103	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.315000	0.65810	2.359000	0.80004	0.650000	0.86243	CCA	POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.408	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1		0	59	0	G	NM_007055		79782097	-1			no_errors	ENST00000372371	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	79782097	G	T	79782097	3	4	1	1	0	0	0	0	1	0	0	0	12267	1232	43	3	3585	3	POLR3A	10	79782097	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3915071	79782097	55752650	233	233											
ZCCHC24	219654	genome.wustl.edu	37	chr10	81154069	81154069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgatgtggcacttgatgCactcctgccccatgttggcc	5	12	11	13	1	0	2	0	2	0	0	1	2	1	2	4	2	2	4	4	2	0	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:81154069C>T	ENST00000372336.3	-	3	761	c.575G>A	c.(574-576)tGc>tAc	p.C192Y	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Silent_p.V132V	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	192							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GCACTTGATGCACTCCTGCCC	0.582																																																	0													183	142	156					10																	81154069		2203	4300	6503	SO:0001583	missense	0			AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"Zinc fingers, CCHC domain containing"	26911	protein-coding gene	gene with protein product	"zinc finger, 3CxxC-type 8"		"chromosome 10 open reading frame 56"	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.575G>A	10.37:g.81154069C>T	ENSP00000361411:p.Cys192Tyr		Q5U5T9|Q8TAG0	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.C192Y	ENST00000372336.3	37	c.575	CCDS7359.1	10	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812407	0.90707	.	.	ENSG00000165424	ENST00000372336	T	0.73363	-0.74	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.87006	0.6070	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.88940	0.3379	10	0.87932	D	0	-18.4514	18.0121	0.89227	0.0:1.0:0.0:0.0	.	192	Q8N2G6	ZCH24_HUMAN	Y	192	ENSP00000361411:C192Y	ENSP00000361411:C192Y	C	-	2	0	ZCCHC24	80824075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.307000	0.78920	2.479000	0.83701	0.514000	0.50259	TGC	ZCCHC24	-	NULL	ENSG00000165424		0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC24	HGNC	protein_coding	OTTHUMT00000048947.1	-	0	44	0	C	NM_153367		81154069	-1	tier1	-	no_errors	ENST00000372336	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	81154069	C	T	81154069	3	4	1	1	0	0	0	0	1	0	0	0	17636	710	25	3	158	3	ZCCHC24	10	81154069	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1371972	81154069	54380678	234	234											
PAPSS2	9060	genome.wustl.edu	37	chr10	89419750	89419750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagccagcatgtcggggatCaagaagcaaaagacggtagg	14	4	14	9	2	1	2	1	0	0	2	2	3	1	3	2	4	3	3	2	4	5	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:89419750C>T	ENST00000361175.4	+	1	381	c.12C>T	c.(10-12)atC>atT	p.I4I	PAPSS2_ENST00000456849.1_Silent_p.I4I|PAPSS2_ENST00000427144.2_5'Flank|RP11-57C13.3_ENST00000354527.2_RNA|RP11-57C13.6_ENST00000438082.1_lincRNA	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	4					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTCGGGGATCAAGAAGCAAA	0.721																																																	0													16	21	19					10																	89419750		2194	4286	6480	SO:0001819	synonymous_variant	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.12C>T	10.37:g.89419750C>T			Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Silent	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.I4	ENST00000361175.4	37	c.12	CCDS7385.1	10																																																																																			PAPSS2	-	NULL	ENSG00000198682		0.721	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	-	0	38	0	C			89419750	1	tier1	-	no_errors	ENST00000456849	ensembl	human	known	74_37	silent	43.75	18	14	SNP	0.965	T	T	89419750	C	T	89419750	2	4	1	1	0	0	0	0	0	0	0	1	11474	816	29	3		3	PAPSS2	10	89419750	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	8265681	89419750	46114997	235	235											
MYOF	26509	genome.wustl.edu	37	chr10	95163809	95163809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccatcagacaatctgcccGcagagagtgagaattataaa	15	7	8	11	1	2	3	1	1	1	3	2	5	2	3	3	0	1	1	3	0	5	2	rs12262721	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:95163809G>A	ENST00000359263.4	-	9	813	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	MYOF_ENST00000371502.4_Missense_Mutation_p.R272W|MYOF_ENST00000358334.5_Missense_Mutation_p.R272W|MYOF_ENST00000371489.1_Missense_Mutation_p.R272W|MYOF_ENST00000371501.4_Missense_Mutation_p.R272W	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	272	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAATCTGCCCGCAGAGAGTGA	0.423																																																	0													119	109	113					10																	95163809		1889	4123	6012	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.814C>T	10.37:g.95163809G>A	ENSP00000352208:p.Arg272Trp		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R272W	ENST00000359263.4	37	c.814	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837370	0.71373	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	6.08	-0.0607	0.13788	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.90662	0.7071	M	0.89904	3.07	0.09310	P	0.99999948992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.92676	0.6154	9	0.56958	D	0.05	-17.5056	17.6887	0.88263	0.0:0.0:0.4703:0.5297	.	254;272;272	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	W	272	ENSP00000351094:R272W;ENSP00000352208:R272W;ENSP00000360556:R272W;ENSP00000360557:R272W;ENSP00000360544:R272W	ENSP00000351094:R272W	R	-	1	2	MYOF	95153799	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	1.699000	0.37804	0.085000	0.17107	-0.152000	0.13540	CGG	MYOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000138119		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	-	0	45	0	G	NM_013451		95163809	-1	tier1	-	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.994	A	A	95163809	G	A	95163809	3	1	1	1	0	0	0	0	1	0	0	0	10127	1086	38	1	5555	1	MYOF	10	95163809	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5744059	95163809	40370938	236	236											
HPSE2	60495	genome.wustl.edu	37	chr10	100992245	100992245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgaaagtccccgggccaggGtcaccaagcgcttggagctg	8	5	15	13	3	1	0	1	0	0	0	2	2	2	1	4	3	2	2	4	3	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:100992245G>T	ENST00000370552.3	-	2	367	c.308C>A	c.(307-309)aCc>aAc	p.T103N	HPSE2_ENST00000370549.1_Missense_Mutation_p.T103N|HPSE2_ENST00000370546.1_Missense_Mutation_p.T103N|HPSE2_ENST00000404542.1_Missense_Mutation_p.T103N	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	103					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGGGCCAGGGTCACCAAGCG	0.627																																																	0													9	9	9					10																	100992245		2154	4209	6363	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.308C>A	10.37:g.100992245G>T	ENSP00000359583:p.Thr103Asn		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.T103N	ENST00000370552.3	37	c.308	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487497	0.63962	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.27	5.27	0.74061	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.43923	1.385	0.38949	D	0.958303	D;P;P;P	0.76494	0.999;0.95;0.873;0.856	D;P;B;B	0.80764	0.994;0.648;0.295;0.353	T	0.26395	-1.0104	10	0.15066	T	0.55	-5.8025	18.4822	0.90817	0.0:0.0:1.0:0.0	.	103;103;103;103	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	N	103	ENSP00000359583:T103N;ENSP00000359580:T103N;ENSP00000359577:T103N;ENSP00000384384:T103N	ENSP00000359577:T103N	T	-	2	0	HPSE2	100982235	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.571000	0.90752	2.470000	0.83445	0.655000	0.94253	ACC	HPSE2	-	superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.627	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	-	0	185	0	G	NM_021828		100992245	-1	tier1	-	no_errors	ENST00000370552	ensembl	human	known	74_37	missense	31.03	80	36	SNP	1.000	T	T	100992245	G	T	100992245	3	4	1	1	0	0	0	0	1	0	0	0	7372	1261	44	3	1552	3	HPSE2	10	100992245	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5828436	100992245	34542502	237	237											
SORCS3	22986	genome.wustl.edu	37	chr10	106976760	106976760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctgtgtcctacgcaaacTtcagccccatcgaggacggc	8	9	10	14	3	1	0	1	0	0	0	3	2	2	1	3	2	4	2	3	2	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:106976760T>C	ENST00000369701.3	+	19	2841	c.2614T>C	c.(2614-2616)Ttc>Ctc	p.F872L	SORCS3_ENST00000369699.4_Missense_Mutation_p.F158L	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	872	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACGCAAACTTCAGCCCCAT	0.512																																					NSCLC(116;1497 1690 7108 13108 14106)												0													164	124	137					10																	106976760		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2614T>C	10.37:g.106976760T>C	ENSP00000358715:p.Phe872Leu		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.F872L	ENST00000369701.3	37	c.2614	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	8.155	0.788297	0.16258	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.59083	0.29;0.29	5.87	5.87	0.94306	PKD domain (4);	0.058143	0.64402	D	0.000001	T	0.30572	0.0769	N	0.01482	-0.84	0.48901	D	0.999723	B	0.09022	0.002	B	0.09377	0.004	T	0.28839	-1.0031	9	.	.	.	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	872	Q9UPU3	SORC3_HUMAN	L	872;158	ENSP00000358715:F872L;ENSP00000358713:F158L	.	F	+	1	0	SORCS3	106966750	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.669000	0.46825	2.371000	0.80710	0.533000	0.62120	TTC	SORCS3	-	pfam_PKD_dom,superfamily_PKD_dom,pfscan_PKD_dom	ENSG00000156395		0.512	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	63	0	T	NM_014978		106976760	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	C	C	106976760	T	C	106976760	3	2	1	1	0	0	0	0	1	0	0	0	14977	1609	56	4	2688	4	SORCS3	10	106976760	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	5984515	106976760	28557987	238	238											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111643831	111643831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaacactcacatgatcGtctctagtcctatgattgcg	10	11	9	11	2	2	2	1	2	1	0	5	2	3	2	1	1	2	1	1	1	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:111643831G>A	ENST00000502935.1	-	9	943	c.824C>T	c.(823-825)aCg>aTg	p.T275M	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.T232M|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.T161M|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.T275M					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCACATGATCGTCTCTAGTCC	0.488											OREG0020527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													186	185	186					10																	111643831		2203	4300	6503	SO:0001583	missense	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.824C>T	10.37:g.111643831G>A	ENSP00000421566:p.Thr275Met	1436		Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.T275M	ENST00000502935.1	37	c.824	CCDS7560.2	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973164	0.74246	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.31	4.4	0.53042	.	0.218311	0.47093	D	0.000245	T	0.73241	0.3562	M	0.78456	2.415	0.38540	D	0.949191	D;D;D	0.67145	0.996;0.996;0.993	P;P;P	0.54140	0.599;0.743;0.488	T	0.79754	-0.1670	9	0.59425	D	0.04	-6.4753	14.8437	0.70243	0.0:0.1431:0.8569:0.0	.	275;275;232	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	M	275;161;275;232;232;200	.	ENSP00000324011:T275M	T	-	2	0	XPNPEP1	111633821	0.995000	0.38212	0.932000	0.37286	0.961000	0.63080	2.374000	0.44274	1.352000	0.45808	0.655000	0.94253	ACG	XPNPEP1	-	NULL	ENSG00000108039		0.488	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2	-	0	52	0	G			111643831	-1	tier1	-	no_errors	ENST00000502935	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.973	A	A	111643831	G	A	111643831	3	1	1	1	0	0	0	0	1	0	0	0	17491	1145	40	1	1228	1	XPNPEP1	10	111643831	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4667071	111643831	23890916	239	239											
SEC23IP	11196	genome.wustl.edu	37	chr10	121674307	121674307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggacctgtgtgtgacttaCgctttaggagcattattgag	8	15	12	6	1	0	2	0	2	0	0	0	4	0	4	1	2	2	2	1	2	3	6	rs575485372	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:121674307C>T	ENST00000369075.3	+	7	1450	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	SEC23IP_ENST00000543134.1_Missense_Mutation_p.R249C	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	460					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GTGTGACTTACGCTTTAGGAG	0.373													C|||	7	0.00139776	0	0	5008	,	,		21410	0		0	False		,,,				2504	0.0072																0													458	413	428					10																	121674307		2203	4300	6503	SO:0001583	missense	0			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"Sterile alpha motif (SAM) domain containing"	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1378C>T	10.37:g.121674307C>T	ENSP00000358071:p.Arg460Cys		D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.R460C	ENST00000369075.3	37	c.1378	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850105	0.71603	.	.	ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561	T;T;T	0.52526	0.66;0.66;1.15	5.45	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82174	-0.0588	10	0.87932	D	0	-13.5825	14.7854	0.69800	0.2153:0.7847:0.0:0.0	.	249;460	F5H0L8;Q9Y6Y8	.;S23IP_HUMAN	C	460;249;164	ENSP00000358071:R460C;ENSP00000438773:R249C;ENSP00000396906:R164C	ENSP00000358071:R460C	R	+	1	0	SEC23IP	121664297	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.177000	0.31969	2.712000	0.92718	0.591000	0.81541	CGC	SEC23IP	-	NULL	ENSG00000107651		0.373	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	-	0	88	0	C			121674307	1	tier1	-	no_errors	ENST00000369075	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	T	T	121674307	C	T	121674307	3	4	1	1	0	0	0	0	1	0	0	0	14038	536	19	1	1404	1	SEC23IP	10	121674307	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	10030476	121674307	13860440	240	240											
SYCE1	93426	genome.wustl.edu	37	chr10	135373623	135373623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttttgcaccatttccatCaagtcttcaattttctgtga	9	17	5	10	0	4	1	2	1	2	0	5	1	5	1	2	0	2	2	2	0	2	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr10:135373623C>A	ENST00000343131.5	-	2	212	c.108G>T	c.(106-108)ttG>ttT	p.L36F	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_5'UTR|SYCE1_ENST00000368517.3_5'UTR	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	36					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCATTTCCATCAAGTCTTCAA	0.522																																																	0													183	129	148					10																	135373623		2203	4300	6503	SO:0001583	missense	0			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.108G>T	10.37:g.135373623C>A	ENSP00000341282:p.Leu36Phe		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	NULL	p.L36F	ENST00000343131.5	37	c.108	CCDS44501.1	10	.	.	.	.	.	.	.	.	.	.	.	16.80	3.223737	0.58668	.	.	ENSG00000171772	ENST00000303903;ENST00000343131	T;T	0.50813	0.73;1.12	4.42	1.55	0.23275	.	.	.	.	.	T	0.58192	0.2105	L	0.55990	1.75	0.29822	N	0.830721	D	0.89917	1.0	D	0.87578	0.998	T	0.52968	-0.8504	9	0.72032	D	0.01	-3.1538	5.9249	0.19104	0.0:0.6669:0.0:0.3331	.	36	Q8N0S2	SYCE1_HUMAN	F	36	ENSP00000303978:L36F;ENSP00000341282:L36F	ENSP00000303978:L36F	L	-	3	2	SYCE1	135223613	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	0.534000	0.23098	0.371000	0.24564	-0.253000	0.11424	TTG	SYCE1	-	NULL	ENSG00000171772		0.522	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYCE1	HGNC	protein_coding		-	0	90	0	C	NM_201564		135373623	-1	tier1	-	no_errors	ENST00000343131	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.995	A	A	135373623	C	A	135373623	3	1	1	1	0	0	0	0	1	0	0	0	15475	825	29	3	1038	3	SYCE1	10	135373623	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	13699316	135373623	161124	241	241											
MUC6	4588	genome.wustl.edu	37	chr11	1024951	1024951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctgtcacgaagctcaCgtccccgcacagcgggctct	6	7	13	15	4	4	0	2	0	2	0	5	1	5	0	2	3	2	3	2	3	1	0	rs573979427		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:1024951C>T	ENST00000421673.2	-	24	3168	c.3118G>A	c.(3118-3120)Gtg>Atg	p.V1040M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1040	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAAGCTCACGTCCCCGCAC	0.627																																																	0													41	49	46					11																	1024951		2127	4236	6363	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3118G>A	11.37:g.1024951C>T	ENSP00000406861:p.Val1040Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.V1040M	ENST00000421673.2	37	c.3118	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238265	0.39598	.	.	ENSG00000184956	ENST00000421673	T	0.19669	2.13	3.88	-1.3	0.09259	von Willebrand factor, type D domain (1);	1.009810	0.08009	U	0.990077	T	0.19248	0.0462	M	0.73598	2.24	0.09310	N	0.999997	P	0.45569	0.861	B	0.29353	0.101	T	0.31138	-0.9954	10	0.66056	D	0.02	.	9.5472	0.39288	0.0:0.6001:0.0:0.3999	.	1040	Q6W4X9	MUC6_HUMAN	M	1040	ENSP00000406861:V1040M	ENSP00000406861:V1040M	V	-	1	0	MUC6	1014951	0.004000	0.15560	0.001000	0.08648	0.634000	0.38068	0.395000	0.20850	-0.121000	0.11787	0.561000	0.74099	GTG	MUC6	-	NULL	ENSG00000184956		0.627	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	51	0	C	XM_290540		1024951	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.516	T	T	1024951	C	T	1024951	3	4	1	1	0	0	0	0	1	0	0	0	10018	536	19	1	4241	1	MUC6	11	1024951	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		1024951	133981565	242	242											
MUC2	4583	genome.wustl.edu	37	chr11	1085959	1085959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagctgaagttggaagaCaagcaccgtgtggtgatcca	12	7	14	8	2	0	3	0	2	0	1	1	5	1	5	2	3	2	3	2	3	3	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:1085959C>T	ENST00000441003.2	+	22	2826	c.2799C>T	c.(2797-2799)gaC>gaT	p.D933D	MUC2_ENST00000359061.5_Silent_p.D933D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	933	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGTTGGAAGACAAGCACCGTG	0.662																																																	0													54	61	58					11																	1085959		2123	4220	6343	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2799C>T	11.37:g.1085959C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.D933	ENST00000441003.2	37	c.2799		11																																																																																			MUC2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000198788		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	32	0	C	NM_002457		1085959	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	36.84	12	7	SNP	0.018	T	T	1085959	C	T	1085959	2	4	1	1	0	0	0	0	0	0	0	1	10013	477	17	3		3	MUC2	11	1085959	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	61008	1085959	133920557	243	243											
OR56A1	120796	genome.wustl.edu	37	chr11	6048564	6048564	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataacggtcataggccatgAccataaacgtgcaggactcc	13	7	9	12	2	1	1	1	1	0	0	2	2	2	2	3	3	3	1	3	3	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6048564A>C	ENST00000316650.5	-	1	407	c.371T>G	c.(370-372)gTc>gGc	p.V124G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGGCCATGACCATAAACGT	0.493																																																	0													120	100	107					11																	6048564		2201	4296	6497	SO:0001583	missense	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.371T>G	11.37:g.6048564A>C	ENSP00000321246:p.Val124Gly		B2RNI2|Q6IFL0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V124G	ENST00000316650.5	37	c.371	CCDS31405.1	11	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637638	0.29157	.	.	ENSG00000180934	ENST00000316650	T	0.05925	3.37	4.16	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.477822	0.15538	N	0.257139	T	0.14399	0.0348	M	0.87900	2.915	0.40573	D	0.98132	P	0.48089	0.905	P	0.49597	0.616	T	0.03335	-1.1047	10	0.62326	D	0.03	.	2.7223	0.05204	0.5167:0.0:0.2905:0.1928	.	124	Q8NGH5	O56A1_HUMAN	G	124	ENSP00000321246:V124G	ENSP00000321246:V124G	V	-	2	0	OR56A1	6005140	0.001000	0.12720	0.709000	0.30452	0.261000	0.26267	1.537000	0.36083	0.225000	0.20959	-0.250000	0.11733	GTC	OR56A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180934		0.493	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	-	0	67	0	A	NM_001001917		6048564	-1	tier1	-	no_errors	ENST00000316650	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.856	C	C	6048564	A	C	6048564	3	2	1	1	0	0	0	0	1	0	0	0	11172	275	10	4	589	4	OR56A1	11	6048564	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	4962605	6048564	128957952	244	244											
TRIM3	10612	genome.wustl.edu	37	chr11	6478611	6478611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgctccaggtcctcgaacGctgcactgatctgggccagg	6	9	12	14	2	1	1	0	1	1	0	4	2	3	1	3	3	3	3	3	3	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6478611G>A	ENST00000525074.1	-	5	1005	c.611C>T	c.(610-612)gCg>gTg	p.A204V	TRIM3_ENST00000536344.1_Missense_Mutation_p.A85V|TRIM3_ENST00000359518.3_Missense_Mutation_p.A204V|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Missense_Mutation_p.A204V|TRIM3_ENST00000345851.3_Missense_Mutation_p.A204V	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	204					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCCTCGAACGCTGCACTGAT	0.607																																					Melanoma(6;5 510 1540 25169 29084)												0													104	94	97					11																	6478611		2201	4296	6497	SO:0001583	missense	0			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.611C>T	11.37:g.6478611G>A	ENSP00000433102:p.Ala204Val		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.A204V	ENST00000525074.1	37	c.611	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350767	0.41599	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;T;D;T	0.83837	-0.68;-0.68;-0.87;-0.68;-1.77;0.91	5.15	4.24	0.50183	B-box, C-terminal (1);	0.151951	0.64402	N	0.000014	T	0.70954	0.3283	L	0.34521	1.04	0.41623	D	0.988977	B;B;B	0.17667	0.006;0.023;0.001	B;B;B	0.10450	0.005;0.004;0.002	T	0.61836	-0.6981	10	0.13470	T	0.59	-10.1111	9.177	0.37118	0.0826:0.147:0.7705:0.0	.	85;85;204	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	V	204;204;204;204;193;204;204;85;204	ENSP00000433102:A204V;ENSP00000340797:A204V;ENSP00000441091:A204V;ENSP00000352508:A204V;ENSP00000445460:A85V;ENSP00000433070:A204V	ENSP00000337094:A193V	A	-	2	0	TRIM3	6435187	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.859000	0.69539	1.169000	0.42739	0.462000	0.41574	GCG	TRIM3	-	smart_Bbox_C	ENSG00000110171		0.607	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	-	0	24	0	G	NM_006458		6478611	-1	tier1	-	no_errors	ENST00000345851	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	A	A	6478611	G	A	6478611	3	1	1	1	0	0	0	0	1	0	0	0	16552	1087	38	1	1655	1	TRIM3	11	6478611	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	430047	6478611	128527905	245	245											
DNHD1	144132	genome.wustl.edu	37	chr11	6578477	6578477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctttggttgcatgaggCacagagaaccttttgcgacc	8	11	12	10	2	1	2	0	1	1	1	1	4	1	2	2	2	3	3	2	2	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6578477C>T	ENST00000527990.2	+	23	7952	c.7952C>T	c.(7951-7953)gCa>gTa	p.A2651V	DNHD1_ENST00000254579.6_Missense_Mutation_p.A2651V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2651					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCATGAGGCACAGAGAACC	0.582																																																	0													84	79	81					11																	6578477		692	1591	2283	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.7952C>T	11.37:g.6578477C>T	ENSP00000436180:p.Ala2651Val		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.A2651V	ENST00000527990.2	37	c.7952	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701845	0.48307	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.28895	1.59;1.59	5.28	5.28	0.74379	.	.	.	.	.	T	0.29684	0.0741	N	0.08118	0	0.32725	N	0.509746	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	T	0.02144	-1.1206	9	0.02654	T	1	.	14.1394	0.65311	0.0:0.8488:0.1512:0.0	.	2651;398	Q96M86;E9PHZ7	DNHD1_HUMAN;.	V	2651;2651;398	ENSP00000254579:A2651V;ENSP00000436180:A2651V	ENSP00000254579:A2651V	A	+	2	0	DNHD1	6535053	0.987000	0.35691	1.000000	0.80357	0.975000	0.68041	2.107000	0.41844	2.755000	0.94549	0.650000	0.86243	GCA	DNHD1	-	NULL	ENSG00000179532		0.582	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	39	0	C	NM_144666		6578477	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	43.59	22	17	SNP	1.000	T	T	6578477	C	T	6578477	3	4	1	1	0	0	0	0	1	0	0	0	4682	710	25	3	8051	3	DNHD1	11	6578477	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	99866	6578477	128428039	246	246											
TAF10	6881	genome.wustl.edu	37	chr11	6632681	6632681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaccagtcactgcatctggGatctgagaaatcaattaaga	15	10	8	8	0	4	2	2	1	2	2	4	4	4	3	1	1	2	1	1	1	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:6632681G>A	ENST00000299424.4	-	3	867	c.390C>T	c.(388-390)atC>atT	p.I130I	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	130					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGCATCTGGGATCTGAGAAA	0.512																																																	0													63	59	60					11																	6632681		2201	4296	6497	SO:0001819	synonymous_variant	0			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.390C>T	11.37:g.6632681G>A			O00703|Q13175|Q6FH13	Silent	SNP	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	p.I130	ENST00000299424.4	37	c.390	CCDS7769.1	11																																																																																			TAF10	-	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	ENSG00000166337		0.512	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF10	HGNC	protein_coding	OTTHUMT00000257259.2	-	0	19	0	G	NM_006284		6632681	-1	tier1	-	no_errors	ENST00000299424	ensembl	human	known	74_37	silent	61.11	6	11	SNP	1.000	A	A	6632681	G	A	6632681	2	1	1	1	0	0	0	0	0	0	0	1	15561	1164	41	3		3	TAF10	11	6632681	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	54204	6632681	128373835	247	247											
C11orf41	25758	genome.wustl.edu	37	chr11	33565593	33565593	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccacaactcgacattcCgtgtctcatcctcagctaca	10	10	4	17	2	3	0	3	0	1	0	7	1	5	0	3	0	3	1	3	0	2	2	rs2235944	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:33565593C>A	ENST00000321505.4	+	1	1773	c.1593C>A	c.(1591-1593)tcC>tcA	p.S531S	KIAA1549L_ENST00000389726.3_Silent_p.S531S|KIAA1549L_ENST00000265654.5_Silent_p.S531S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	531						integral component of membrane (GO:0016021)											CTCGACATTCCGTGTCTCATC	0.478																																																	0													162	164	163					11																	33565593		2047	4212	6259	SO:0001819	synonymous_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1593C>A	11.37:g.33565593C>A			B0QYU0	Silent	SNP	NULL	p.S531	ENST00000321505.4	37	c.1593	CCDS44565.2	11																																																																																			KIAA1549L	-	NULL	ENSG00000110427		0.478	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0	64	0	C	NM_012194		33565593	1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	silent	13.64	37	6	SNP	0.000	A	A	33565593	C	A	33565593	2	1	1	1	0	0	0	0	0	0	0	1	1645	639	23	2		2	C11orf41	11	33565593	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	26932912	33565593	101440923	248	248											
ELF5	2001	genome.wustl.edu	37	chr11	34502402	34502402	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgccagggcttccgatttAaccacccgaaaaattccttg	10	12	7	12	2	0	0	0	0	0	0	2	2	2	0	5	1	2	1	5	1	3	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:34502402A>G	ENST00000312319.2	-	6	847	c.618T>C	c.(616-618)gtT>gtC	p.V206V	ELF5_ENST00000528709.1_5'Flank|ELF5_ENST00000257832.2_Silent_p.V196V|ELF5_ENST00000429939.2_Silent_p.V101V	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	206					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTTCCGATTTAACCACCCGAA	0.423																																					Melanoma(61;202 1660 4348 21594)												0													147	144	145					11																	34502402		2202	4298	6500	SO:0001819	synonymous_variant	0			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.618T>C	11.37:g.34502402A>G			A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.V206	ENST00000312319.2	37	c.618	CCDS7892.1	11																																																																																			ELF5	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000135374		0.423	ELF5-002	KNOWN	basic|CCDS	protein_coding	ELF5	HGNC	protein_coding	OTTHUMT00000389845.1	-	0	62	0	A	NM_198381		34502402	-1	tier1	-	no_errors	ENST00000312319	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.536	G	G	34502402	A	G	34502402	2	3	1	1	0	0	0	0	0	0	0	1	5073	349	13	4		4	ELF5	11	34502402	Silent	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	936809	34502402	100504114	249	249											
OR5D13	390142	genome.wustl.edu	37	chr11	55541046	55541046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcactgtagtggggaacTtgggcatgataataatcatc	12	11	11	7	0	2	1	2	1	0	0	3	2	2	2	0	3	1	2	0	3	4	4	rs112091941	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55541046T>G	ENST00000361760.1	+	1	133	c.133T>G	c.(133-135)Ttg>Gtg	p.L45V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGTGGGGAACTTGGGCATGAT	0.398																																																	0													162	151	155					11																	55541046		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.133T>G	11.37:g.55541046T>G	ENSP00000354800:p.Leu45Val		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L45V	ENST00000361760.1	37	c.133	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	T	3.763	-0.049291	0.07407	.	.	ENSG00000198877	ENST00000361760	T	0.00428	7.44	3.52	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27464	U	0.019251	T	0.00356	0.0011	M	0.64170	1.965	0.09310	N	1	B	0.27679	0.185	B	0.29942	0.109	T	0.39860	-0.9593	10	0.42905	T	0.14	-6.8477	11.2759	0.49165	0.0969:0.6551:0.0978:0.1502	.	45	Q8NGL4	OR5DD_HUMAN	V	45	ENSP00000354800:L45V	ENSP00000354800:L45V	L	+	1	2	OR5D13	55297622	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-10.618000	0.00005	-3.857000	0.00098	-1.484000	0.00983	TTG	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198877		0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0	59	0	T	NM_001001967		55541046	1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	62.86	13	22	SNP	0.000	G	G	55541046	T	G	55541046	3	3	1	1	0	0	0	0	1	0	0	0	11193	1606	56	4	135	4	OR5D13	11	55541046	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	21038644	55541046	79465470	250	250											
OR5D16	390144	genome.wustl.edu	37	chr11	55606456	55606456	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggatttctgctattccTccatcattgctcccatgatg	6	17	7	11	0	2	1	1	1	1	0	5	2	5	2	3	1	2	2	3	1	1	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55606456T>G	ENST00000378396.1	+	1	229	c.229T>G	c.(229-231)Tcc>Gcc	p.S77A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGCTATTCCTCCATCATTGC	0.398																																																	0													206	202	204					11																	55606456		2201	4296	6497	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.229T>G	11.37:g.55606456T>G	ENSP00000367649:p.Ser77Ala		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S77A	ENST00000378396.1	37	c.229	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	14.20	2.463933	0.43736	.	.	ENSG00000205029	ENST00000378396	T	0.00392	7.58	4.05	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.87180	2.865	0.24883	N	0.992214	P	0.36183	0.542	B	0.43950	0.437	T	0.20338	-1.0278	9	0.87932	D	0	-27.5944	6.6192	0.22794	0.44:0.0:0.0:0.56	.	77	Q8NGK9	OR5DG_HUMAN	A	77	ENSP00000367649:S77A	ENSP00000367649:S77A	S	+	1	0	OR5D16	55363032	0.000000	0.05858	0.984000	0.44739	0.974000	0.67602	-0.472000	0.06623	1.644000	0.50603	0.433000	0.28618	TCC	OR5D16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205029		0.398	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	-	0	80	0	T	NM_001005496		55606456	1	tier1	-	no_errors	ENST00000378396	ensembl	human	known	74_37	missense	54.93	32	39	SNP	0.727	G	G	55606456	T	G	55606456	3	3	1	1	0	0	0	0	1	0	0	0	11195	1551	54	4	231	4	OR5D16	11	55606456	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	65410	55606456	79400060	251	251											
OR5W2	390148	genome.wustl.edu	37	chr11	55681968	55681968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatataaacagccaagaAtacagcaaatagggtcactt	19	8	7	7	0	1	2	1	1	0	1	1	2	1	2	1	1	4	1	1	1	9	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55681968A>G	ENST00000344514.1	-	1	90	c.91T>C	c.(91-93)Ttc>Ctc	p.F31L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAGCCAAGAATACAGCAAAT	0.353																																					Melanoma(48;171 1190 15239 43886 49348)												0													66	68	67					11																	55681968		2201	4296	6497	SO:0001583	missense	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.91T>C	11.37:g.55681968A>G	ENSP00000342448:p.Phe31Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31L	ENST00000344514.1	37	c.91	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	A	12.62	1.992866	0.35131	.	.	ENSG00000187612	ENST00000344514	T	0.04454	3.62	5.01	2.59	0.31030	.	0.403557	0.18348	N	0.143971	T	0.06005	0.0156	L	0.60067	1.865	0.09310	N	1	B	0.15141	0.012	B	0.21151	0.033	T	0.33292	-0.9874	10	0.62326	D	0.03	.	4.7954	0.13270	0.7293:0.0:0.0983:0.1723	.	31	Q8NH69	OR5W2_HUMAN	L	31	ENSP00000342448:F31L	ENSP00000342448:F31L	F	-	1	0	OR5W2	55438544	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	0.482000	0.22276	0.216000	0.20781	0.448000	0.29417	TTC	OR5W2	-	prints_GPCR_Rhodpsn	ENSG00000187612		0.353	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	-	0	41	0	A	NM_001001960		55681968	-1	tier1	-	no_errors	ENST00000344514	ensembl	human	known	74_37	missense	58.33	20	28	SNP	0.008	G	G	55681968	A	G	55681968	3	3	1	1	0	0	0	0	1	0	0	0	11224	101	4	4	843	4	OR5W2	11	55681968	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	75512	55681968	79324548	252	252											
OR5T2	219464	genome.wustl.edu	37	chr11	55999758	55999758	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccgaagcatagctggaacTtggtctcacatacatgaaga	13	9	10	9	1	1	2	1	1	1	1	3	4	2	3	1	2	4	2	1	2	5	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:55999758T>G	ENST00000313264.4	-	1	979	c.904A>C	c.(904-906)Agt>Cgt	p.S302R		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S302G(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TAGCTGGAACTTGGTCTCACA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											199	176	184					11																	55999758		2201	4296	6497	SO:0001583	missense	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.904A>C	11.37:g.55999758T>G	ENSP00000323688:p.Ser302Arg		B9EGX5|Q6IFC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S302R	ENST00000313264.4	37	c.904	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594844	0.46318	.	.	ENSG00000181718	ENST00000313264	T	0.00137	8.68	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.138912	0.32301	U	0.006300	T	0.00241	0.0007	L	0.57130	1.785	0.09310	N	1	B	0.31383	0.321	B	0.43728	0.429	T	0.18272	-1.0342	10	0.72032	D	0.01	.	8.4534	0.32884	0.2707:0.0:0.0:0.7293	.	302	Q8NGG2	OR5T2_HUMAN	R	302	ENSP00000323688:S302R	ENSP00000323688:S302R	S	-	1	0	OR5T2	55756334	0.000000	0.05858	0.810000	0.32431	0.803000	0.45373	0.358000	0.20216	2.041000	0.60428	0.391000	0.25812	AGT	OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181718		0.428	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0	46	0	T	NM_001004746		55999758	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.001	G	G	55999758	T	G	55999758	3	3	1	1	0	0	0	0	1	0	0	0	11221	1609	56	4	174	4	OR5T2	11	55999758	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	317790	55999758	79006758	253	253											
AHNAK	79026	genome.wustl.edu	37	chr11	62284501	62284501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaaactccagcgtcccCgtcggggtggaaggtccaga	8	7	12	14	3	1	1	1	0	0	1	5	2	4	2	5	4	2	0	5	4	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:62284501C>T	ENST00000378024.4	-	5	17662	c.17388G>A	c.(17386-17388)acG>acA	p.T5796T	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5796					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCAGCGTCCCCGTCGGGGTGG	0.493																																																	0													84	88	87					11																	62284501		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17388G>A	11.37:g.62284501C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T5796	ENST00000378024.4	37	c.17388	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	40	0	C	NM_024060		62284501	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	26.32	28	10	SNP	0.012	T	T	62284501	C	T	62284501	2	4	1	1	0	0	0	0	0	0	0	1	414	639	23	1		1	AHNAK	11	62284501	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6284743	62284501	72722015	254	254											
AHNAK	79026	genome.wustl.edu	37	chr11	62299944	62299944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctttgggtagagtcatatGaacatctggaccttcccctt	8	14	8	11	0	2	2	1	1	1	1	4	3	4	3	4	2	1	1	4	2	3	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:62299944G>A	ENST00000378024.4	-	5	2219	c.1945C>T	c.(1945-1947)Cat>Tat	p.H649Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	649					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAGTCATATGAACATCTGGA	0.502																																																	0													128	125	126					11																	62299944		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1945C>T	11.37:g.62299944G>A	ENSP00000367263:p.His649Tyr		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H649Y	ENST00000378024.4	37	c.1945	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	7.542	0.660794	0.14645	.	.	ENSG00000124942	ENST00000378024	T	0.00678	5.87	5.39	-4.55	0.03441	.	.	.	.	.	T	0.00815	0.0027	N	0.14661	0.345	0.09310	N	1	P	0.46784	0.884	P	0.49561	0.615	T	0.46162	-0.9211	9	0.72032	D	0.01	-0.1252	7.5119	0.27579	0.0:0.2383:0.4276:0.3341	.	649	Q09666	AHNK_HUMAN	Y	649	ENSP00000367263:H649Y	ENSP00000367263:H649Y	H	-	1	0	AHNAK	62056520	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.035000	0.13797	-0.953000	0.03645	0.305000	0.20034	CAT	AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	87	0	G	NM_024060		62299944	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	27.96	67	26	SNP	0.000	A	A	62299944	G	A	62299944	3	1	1	1	0	0	0	0	1	0	0	0	414	1290	45	3	15847	3	AHNAK	11	62299944	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	15443	62299944	72706572	255	255											
MARK2	2011	genome.wustl.edu	37	chr11	63670599	63670599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttggagcgggccagcctcGgccaggcctccatccagaat	7	8	12	14	2	0	1	0	0	0	1	3	2	2	2	6	4	2	0	6	4	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:63670599G>A	ENST00000509502.2	+	14	1844	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	MARK2_ENST00000377810.3_Missense_Mutation_p.G461S|MARK2_ENST00000513765.2_Missense_Mutation_p.G462S|MARK2_ENST00000425897.2_Missense_Mutation_p.G461S|MARK2_ENST00000377809.4_Missense_Mutation_p.G495S|MARK2_ENST00000502399.3_Missense_Mutation_p.G494S|MARK2_ENST00000508192.1_Missense_Mutation_p.G494S|MARK2_ENST00000315032.8_Missense_Mutation_p.G495S|MARK2_ENST00000402010.2_Missense_Mutation_p.G495S|MARK2_ENST00000361128.5_Missense_Mutation_p.G495S|MARK2_ENST00000350490.7_Missense_Mutation_p.G494S|MARK2_ENST00000408948.3_Missense_Mutation_p.G461S|MARK2_ENST00000413835.2_Missense_Mutation_p.G495S	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCCAGCCTCGGCCAGGCCTC	0.577																																																	0													100	102	101					11																	63670599		2201	4297	6498	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1381G>A	11.37:g.63670599G>A	ENSP00000423974:p.Gly461Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G495S	ENST00000509502.2	37	c.1483	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	g	8.689	0.907087	0.17833	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.48;-0.48;-0.48;-0.42;-0.44;-0.43;-0.44;-0.42;-0.5;-0.48;-0.44;-0.47	4.7	3.79	0.43588	.	0.272209	0.34386	N	0.004008	T	0.45256	0.1333	N	0.19112	0.55	0.44282	D	0.997144	B;B;B;P;B;B	0.35700	0.001;0.035;0.0;0.516;0.079;0.007	B;B;B;B;B;B	0.28709	0.001;0.016;0.002;0.093;0.009;0.01	T	0.40831	-0.9542	10	0.07482	T	0.82	.	8.3947	0.32550	0.1813:0.0:0.8187:0.0	.	461;461;494;495;495;494	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	S	495;495;495;495;461;494;495;494;494;461;462;461;461	ENSP00000385751:G495S;ENSP00000326632:G495S;ENSP00000367040:G495S;ENSP00000389184:G495S;ENSP00000367041:G461S;ENSP00000425765:G494S;ENSP00000355091:G495S;ENSP00000294247:G494S;ENSP00000423974:G461S;ENSP00000421075:G462S;ENSP00000386128:G461S;ENSP00000415494:G461S	ENSP00000326632:G495S	G	+	1	0	MARK2	63427175	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.995000	0.88328	1.200000	0.43188	0.556000	0.70494	GGC	MARK2	-	NULL	ENSG00000072518		0.577	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	-	0	48	0	G	NM_017490		63670599	1	tier1	-	no_errors	ENST00000402010	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.984	A	A	63670599	G	A	63670599	3	1	1	1	0	0	0	0	1	0	0	0	9351	1116	39	1	1537	1	MARK2	11	63670599	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1370655	63670599	71335917	256	256											
PDE2A	5138	genome.wustl.edu	37	chr11	72292512	72292512	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtagcccttcttcaccAtcaaacagaacctgggggag	10	7	10	14	1	3	1	2	0	1	1	3	2	3	2	4	3	3	1	4	3	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:72292512A>T	ENST00000334456.5	-	23	2179	c.1934T>A	c.(1933-1935)aTg>aAg	p.M645K	PDE2A_ENST00000418754.2_Missense_Mutation_p.M530K|PDE2A_ENST00000444035.2_Missense_Mutation_p.M636K|PDE2A_ENST00000376450.3_Missense_Mutation_p.M389K|PDE2A_ENST00000540345.1_Missense_Mutation_p.M636K|PDE2A_ENST00000544570.1_Missense_Mutation_p.M638K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	645	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CTTCTTCACCATCAAACAGAA	0.582																																																	0													31	32	32					11																	72292512		2200	4293	6493	SO:0001583	missense	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1934T>A	11.37:g.72292512A>T	ENSP00000334910:p.Met645Lys		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.M645K	ENST00000334456.5	37	c.1934	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837304	0.71373	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	T;T;T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.89	5.89	0.94794	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.85427	0.5694	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.992;0.999;1.0;0.996;1.0	D;P;D;D;P;D	0.91635	0.999;0.845;0.953;0.997;0.845;0.937	D	0.85349	0.1100	10	0.42905	T	0.14	.	15.1261	0.72483	1.0:0.0:0.0:0.0	.	530;645;636;638;645;389	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	K	645;389;636;714;638;530;636;24;186;76	ENSP00000334910:M645K;ENSP00000365633:M389K;ENSP00000411657:M636K;ENSP00000442256:M638K;ENSP00000410310:M530K;ENSP00000446399:M636K;ENSP00000388997:M24K;ENSP00000392457:M186K;ENSP00000440834:M76K	ENSP00000334910:M645K	M	-	2	0	PDE2A	71970160	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.345000	0.79337	2.251000	0.74343	0.482000	0.46254	ATG	PDE2A	-	NULL	ENSG00000186642		0.582	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0	67	0	A	NM_002599		72292512	-1	tier1	-	no_errors	ENST00000334456	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	72292512	A	T	72292512	3	4	1	1	0	0	0	0	1	0	0	0	11675	217	8	5	927	5	PDE2A	11	72292512	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	8621913	72292512	62714004	257	257											
PRCP	5547	genome.wustl.edu	37	chr11	82561066	82561066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcataaatacaccacaaGgtactaaatcctcaaactgc	16	10	3	12	0	3	0	2	0	1	0	4	0	4	0	2	1	4	1	2	1	8	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:82561066G>T	ENST00000313010.3	-	5	835	c.641C>A	c.(640-642)cCt>cAt	p.P214H	PRCP_ENST00000393399.2_Missense_Mutation_p.P235H|PRCP_ENST00000535099.1_Missense_Mutation_p.P109H	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	214	SKS domain.				angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TACACCACAAGGTACTAAATC	0.383																																																	0													45	45	45					11																	82561066		2203	4300	6503	SO:0001583	missense	0			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.641C>A	11.37:g.82561066G>T	ENSP00000317362:p.Pro214His		A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.P235H	ENST00000313010.3	37	c.704	CCDS8262.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080400	0.76528	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099;ENST00000531801;ENST00000534631;ENST00000527444;ENST00000531128;ENST00000534396	D;D;D;D;D;D;T;T	0.92348	-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;1.5;1.5	5.34	4.42	0.53409	.	0.211115	0.51477	D	0.000100	D	0.96756	0.8941	M	0.93854	3.465	0.80722	D	1	D;D	0.67145	0.996;0.991	D;D	0.67231	0.912;0.95	D	0.97660	1.0160	9	.	.	.	-7.2141	14.6975	0.69132	0.0712:0.0:0.9287:0.0	.	214;235	P42785;A8MU24	PCP_HUMAN;.	H	214;235;109;109;109;109;109;109	ENSP00000317362:P214H;ENSP00000377055:P235H;ENSP00000442077:P109H;ENSP00000432004:P109H;ENSP00000431559:P109H;ENSP00000436141:P109H;ENSP00000431435:P109H;ENSP00000432506:P109H	.	P	-	2	0	PRCP	82238714	1.000000	0.71417	0.927000	0.36925	0.939000	0.58152	5.289000	0.65656	1.355000	0.45865	0.650000	0.86243	CCT	PRCP	-	pfam_Peptidase_S28	ENSG00000137509		0.383	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	-	0	70	0	G	NM_005040		82561066	-1	tier1	-	no_errors	ENST00000393399	ensembl	human	known	74_37	missense	6.33	73	5	SNP	0.998	T	T	82561066	G	T	82561066	3	4	1	1	0	0	0	0	1	0	0	0	12491	1000	35	3	869	3	PRCP	11	82561066	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	10268554	82561066	52445450	258	258											
ANKRD42	338699	genome.wustl.edu	37	chr11	82935967	82935967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagaatgagcagtgcgacGcaagttttaaaagctttcaa	15	10	10	6	2	1	2	1	1	0	1	1	3	1	2	0	0	3	5	0	0	6	4	rs145591736		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:82935967G>A	ENST00000393392.2	+	6	735	c.573G>A	c.(571-573)acG>acA	p.T191T	ANKRD42_ENST00000533342.1_Silent_p.T219T|ANKRD42_ENST00000260047.6_Silent_p.T218T|ANKRD42_ENST00000531895.1_Silent_p.T219T	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	191					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T191T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGTGCGACGCAAGTTTTAA	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		14204	0		0	False		,,,				2504	0																2	Substitution - coding silent(2)	large_intestine(1)|lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	94	96	96		573	0.5	0.6	11	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	ANKRD42	NM_182603.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		191/390	82935967	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.573G>A	11.37:g.82935967G>A			Q49A49	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T191	ENST00000393392.2	37	c.573	CCDS8265.1	11																																																																																			ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.393	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	-	0	100	0	G	NM_182603		82935967	1	tier1	rs145591736	no_errors	ENST00000393392	ensembl	human	known	74_37	silent	18.39	71	16	SNP	0.074	A	A	82935967	G	A	82935967	2	1	1	1	0	0	0	0	0	0	0	1	670	1074	38	1		1	ANKRD42	11	82935967	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	374901	82935967	52070549	259	259											
DLG2	1740	genome.wustl.edu	37	chr11	83641482	83641482	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcctgggagaagcaggcTtatcacatagtttgttcaca	11	11	11	8	0	2	1	2	0	0	1	2	2	2	1	1	2	2	4	1	2	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:83641482T>C	ENST00000532653.1	-	10	1372	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398309.2_Missense_Mutation_p.K357R|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.K396R|DLG2_ENST00000398301.2_Missense_Mutation_p.K396R|DLG2_ENST00000376104.2_Missense_Mutation_p.K462R|DLG2_ENST00000330014.6_Missense_Mutation_p.K296R|DLG2_ENST00000537455.1_Missense_Mutation_p.K111R|DLG2_ENST00000543673.1_Missense_Mutation_p.K462R|DLG2_ENST00000524982.1_Missense_Mutation_p.K357R|DLG2_ENST00000531015.1_Missense_Mutation_p.K324R			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.K357M(1)|p.K462M(1)|p.K396M(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGAAGCAGGCTTATCACATAG	0.488																																																	3	Substitution - Missense(3)	lung(3)											167	171	170					11																	83641482		2009	4193	6202	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1070A>G	11.37:g.83641482T>C	ENSP00000435849:p.Lys357Arg		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.K462R	ENST00000532653.1	37	c.1385		11	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171392	0.57584	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T	0.19806	2.65;2.64;2.64;2.6;2.56;2.42;2.65;2.6;2.46;2.12	5.99	5.99	0.97316	.	0.182212	0.34268	N	0.004118	T	0.15262	0.0368	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B;B	0.19817	0.005;0.003;0.003;0.005;0.039;0.008;0.003	B;B;B;B;B;B;B	0.13407	0.004;0.003;0.003;0.003;0.005;0.009;0.003	T	0.10405	-1.0631	9	.	.	.	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	324;357;357;296;396;462;357	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700	.;.;.;.;.;.;DLG2_HUMAN	R	357;462;462;396;296;111;357;357;462;324;396	ENSP00000381355:K357R;ENSP00000365272:K462R;ENSP00000441994:K462R;ENSP00000280241:K396R;ENSP00000381353:K296R;ENSP00000443248:K111R;ENSP00000432894:K357R;ENSP00000435849:K357R;ENSP00000433848:K324R;ENSP00000381346:K396R	.	K	-	2	0	DLG2	83319130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.571000	0.67404	2.291000	0.77112	0.533000	0.62120	AAG	DLG2	-	pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.488	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	51	0	T	NM_001364		83641482	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	53.33	21	24	SNP	1.000	C	C	83641482	T	C	83641482	3	2	1	1	0	0	0	0	1	0	0	0	4569	1609	56	4	1648	4	DLG2	11	83641482	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	705515	83641482	51365034	260	260											
FAT3	120114	genome.wustl.edu	37	chr11	92565079	92565079	+	Frame_Shift_Del	DEL	T	T	-																															tggcacccaagtccttgctgTttttgccaccagcaaagata																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:92565079delT	ENST00000298047.6	+	13	9790	c.9773delT	c.(9772-9774)gttfs	p.V3258fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.V3258fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.V3108fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3258	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTCCTTGCTGTTTTTGCCACC	0.507										TCGA Ovarian(4;0.039)																																							0													52	54	53					11																	92565079		1942	4156	6098	SO:0001589	frameshift_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9773delT	11.37:g.92565079delT	ENSP00000298047:p.Val3258fs		B5MDB0|Q96AU6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F3259fs	ENST00000298047.6	37	c.9773		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.507	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0	28	0	T	NM_001008781		92565079	1	tier1		no_errors	ENST00000298047	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	92565079	T	-	92565079	7	5	1	1	0	1	0	1	0	0	0	0	5713	1725	60	0	9823	0	FAT3	11	92565079	Frame_Shift_Del	DEL	T	TCGA-2H-A9GF-01A-11D-A37C-09	8923597	92565079	42441437	261	261											
PGR	5241	genome.wustl.edu	37	chr11	100962609	100962610	+	Splice_Site	INS	-	-	A																															ataagtagttgtgctgccctINSaaaaaaacaaaatgagtcaa																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:100962609_100962610insA	ENST00000325455.5	-	3	3243		c.e3-2		PGR_ENST00000263463.5_Splice_Site|PGR_ENST00000534013.1_Splice_Site	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor						cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGTGCTGCCCTAAAAAAACAAA	0.381																																					Pancreas(124;2271 2354 21954 22882)												0																																										SO:0001630	splice_region_variant	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1790-2->T	11.37:g.100962616_100962616dupA			A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Splice_Site	INS	-	e3-2	ENST00000325455.5	37	c.1790-3_1790-2	CCDS8310.1	11																																																																																			PGR	-	-	ENSG00000082175		0.381	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1		0	26	0	-		Intron	100962610	-1	tier1		no_errors	ENST00000325455	ensembl	human	known	74_37	splice_site_ins	28.57	20	8	INS	1.000:0.845	A	A	100962610	-	A	100962609	8	5	1	1	0	1	1	0	0	0	1	0	11844	1536	53	0	1037	0	PGR	11	100962609	Splice_Site	INS	-	TCGA-2H-A9GF-01A-11D-A37C-09	8397530	100962609	34043907	262	262											
PGR	5241	genome.wustl.edu	37	chr11	100996845	100996845	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatcttctgaggtaatGactcgaagctgtattgtggg	12	12	11	6	1	2	2	0	2	2	0	3	3	2	2	0	2	2	3	0	2	5	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:100996845G>T	ENST00000325455.5	-	2	3135	c.1682C>A	c.(1681-1683)tCa>tAa	p.S561*	PGR_ENST00000263463.5_Nonsense_Mutation_p.S561*|PGR_ENST00000534013.1_5'UTR	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	561	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTGAGGTAATGACTCGAAGCT	0.433																																					Pancreas(124;2271 2354 21954 22882)												0													83	71	75					11																	100996845		2203	4300	6503	SO:0001587	stop_gained	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1682C>A	11.37:g.100996845G>T	ENSP00000325120:p.Ser561*		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S561*	ENST00000325455.5	37	c.1682	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.358211	0.95854	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	.	.	.	5.55	4.63	0.57726	.	0.412825	0.24074	N	0.041787	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.554	0.68086	0.0703:0.0:0.9297:0.0	.	.	.	.	X	561	.	ENSP00000263463:S561X	S	-	2	0	PGR	100502055	1.000000	0.71417	0.564000	0.28396	0.068000	0.16541	4.635000	0.61332	1.330000	0.45394	-0.157000	0.13467	TCA	PGR	-	pfam_Progest_rcpt,prints_Progest_rcpt	ENSG00000082175		0.433	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0	52	0	G			100996845	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	nonsense	52.78	34	38	SNP	0.973	T	T	100996845	G	T	100996845	4	4	1	1	0	0	0	0	0	1	0	0	11844	1294	45	3	1147	3	PGR	11	100996845	Nonsense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	34236	100996845	34009671	263	263											
ANGPTL5	253935	genome.wustl.edu	37	chr11	101773359	101773359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacgggaaatacctcaaatGggtagctagatccttctggg	12	10	11	8	1	2	1	1	0	1	1	3	2	3	2	2	3	3	2	2	3	6	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:101773359G>T	ENST00000334289.3	-	6	1128	c.533C>A	c.(532-534)cCa>cAa	p.P178Q		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	178	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TACCTCAAATGGGTAGCTAGA	0.333																																																	0													114	118	117					11																	101773359		2203	4299	6502	SO:0001583	missense	0			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"Fibrinogen C domain containing"	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.533C>A	11.37:g.101773359G>T	ENSP00000335255:p.Pro178Gln		A8K658|Q86VR9	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.P178Q	ENST00000334289.3	37	c.533	CCDS8312.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130458	0.77549	.	.	ENSG00000187151	ENST00000334289	D	0.83591	-1.74	5.05	4.14	0.48551	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.169277	0.53938	D	0.000047	D	0.89431	0.6713	M	0.77406	2.37	0.40323	D	0.978843	D	0.71674	0.998	D	0.67231	0.95	D	0.88884	0.3341	10	0.36615	T	0.2	.	13.0671	0.59041	0.0773:0.0:0.9227:0.0	.	178	Q86XS5	ANGL5_HUMAN	Q	178	ENSP00000335255:P178Q	ENSP00000335255:P178Q	P	-	2	0	ANGPTL5	101278569	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.122000	0.64697	1.118000	0.41863	0.591000	0.81541	CCA	ANGPTL5	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000187151		0.333	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL5	HGNC	protein_coding	OTTHUMT00000394138.1	-	0	58	0	G	NM_178127		101773359	-1	tier1	-	no_errors	ENST00000334289	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	101773359	G	T	101773359	3	4	1	1	0	0	0	0	1	0	0	0	617	1348	47	3	649	3	ANGPTL5	11	101773359	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	776514	101773359	33233157	264	264											
GUCY1A2	2977	genome.wustl.edu	37	chr11	106558447	106558447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcttcacgagaccgcGgaatgaatgtgaaactttct	12	10	10	9	3	3	3	1	2	2	1	3	6	3	4	1	1	2	1	1	1	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:106558447G>A	ENST00000526355.2	-	8	2495	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	676					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.P676L(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	ACGAGACCGCGGAATGAATGT	0.418																																																	2	Substitution - Missense(2)	prostate(2)											95	98	97					11																	106558447		2201	4298	6499	SO:0001583	missense	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2027C>T	11.37:g.106558447G>A	ENSP00000431245:p.Pro676Leu		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P707L	ENST00000526355.2	37	c.2120	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375737	0.82682	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.80566	-1.39;-1.39;-1.39	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.44902	U	0.000403	D	0.87807	0.6270	L	0.60845	1.875	0.80722	D	1	D;P;D	0.89917	1.0;0.867;1.0	D;B;D	0.97110	1.0;0.329;1.0	D	0.84572	0.0656	10	0.27785	T	0.31	.	18.7903	0.91971	0.0:0.0:1.0:0.0	.	697;707;676	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	L	676;707;697	ENSP00000431245:P676L;ENSP00000282249:P707L;ENSP00000344874:P697L	ENSP00000282249:P707L	P	-	2	0	GUCY1A2	106063657	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.340000	0.97038	2.762000	0.94881	0.467000	0.42956	CCG	GUCY1A2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000152402		0.418	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	-	0	46	0	G			106558447	-1	tier1	-	no_errors	ENST00000282249	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A	A	106558447	G	A	106558447	3	1	1	1	0	0	0	0	1	0	0	0	6920	1116	39	1	175	1	GUCY1A2	11	106558447	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4785088	106558447	28448069	265	265											
DIXDC1	85458	genome.wustl.edu	37	chr11	111851550	111851550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagattttgtgattattcccGctgaaggaatagagaacaga	14	11	10	6	1	0	5	0	2	0	3	1	7	1	6	1	1	1	1	1	1	5	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:111851550G>A	ENST00000440460.2	+	6	1042	c.745G>A	c.(745-747)Gct>Act	p.A249T	DIXDC1_ENST00000315253.5_Missense_Mutation_p.A38T|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	249	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		GATTATTCCCGCTGAAGGAAT	0.468																																																	0													103	97	99					11																	111851550		1910	4112	6022	SO:0001583	missense	0			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.745G>A	11.37:g.111851550G>A	ENSP00000394352:p.Ala249Thr		A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX	p.A249T	ENST00000440460.2	37	c.745		11	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543868	0.65198	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.69561	-0.41;1.01	5.71	3.39	0.38822	.	0.514735	0.19974	N	0.101918	T	0.35393	0.0930	N	0.03608	-0.345	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.15723	-1.0427	10	0.23891	T	0.37	-12.1654	2.7443	0.05263	0.2606:0.0699:0.1226:0.5468	.	38;249	E7EQ17;Q155Q3	.;DIXC1_HUMAN	T	249;38	ENSP00000394352:A249T;ENSP00000314068:A38T	ENSP00000314068:A38T	A	+	1	0	DIXDC1	111356760	0.148000	0.22702	0.994000	0.49952	0.987000	0.75469	0.390000	0.20768	0.110000	0.17919	-0.256000	0.11100	GCT	DIXDC1	-	NULL	ENSG00000150764		0.468	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	DIXDC1	HGNC	protein_coding		-	0	42	0	G	NM_001037954		111851550	1	tier1	-	no_errors	ENST00000440460	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.933	A	A	111851550	G	A	111851550	3	1	1	1	0	0	0	0	1	0	0	0	4555	1087	38	1	794	1	DIXDC1	11	111851550	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5293103	111851550	23154966	266	266											
BUD13	84811	genome.wustl.edu	37	chr11	116631632	116631632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactttgtttatgccgtggaGaagaaaggtctgaatcagtt	11	13	12	5	1	2	3	1	1	1	2	2	5	2	3	1	2	1	2	1	2	4	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:116631632G>A	ENST00000260210.4	-	5	1096	c.1073C>T	c.(1072-1074)tCt>tTt	p.S358F	BUD13_ENST00000375445.3_Missense_Mutation_p.S224F	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	358					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGCCGTGGAGAAGAAAGGTC	0.473																																																	0													135	123	128					11																	116631632		2201	4296	6497	SO:0001583	missense	0			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 71"		"BUD13 homolog (yeast)"			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1073C>T	11.37:g.116631632G>A	ENSP00000260210:p.Ser358Phe		A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.S358F	ENST00000260210.4	37	c.1073	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645102	0.47258	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.19532	2.14;2.15	6.11	3.88	0.44766	.	0.293199	0.37530	N	0.002052	T	0.30854	0.0778	L	0.50333	1.59	0.31607	N	0.652037	P;P;P	0.49783	0.579;0.928;0.579	B;P;B	0.53102	0.223;0.718;0.223	T	0.37291	-0.9712	10	0.87932	D	0	-10.2442	11.9482	0.52940	0.0728:0.0:0.8021:0.1251	.	358;224;358	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	F	224;358	ENSP00000364594:S224F;ENSP00000260210:S358F	ENSP00000260210:S358F	S	-	2	0	BUD13	116136842	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.372000	0.66156	1.552000	0.49463	0.655000	0.94253	TCT	BUD13	-	NULL	ENSG00000137656		0.473	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	-	0	98	0	G	NM_032725		116631632	-1	tier1	-	no_errors	ENST00000260210	ensembl	human	known	74_37	missense	26.60	68	25	SNP	1.000	A	A	116631632	G	A	116631632	3	1	1	1	0	0	0	0	1	0	0	0	1577	942	33	3	810	3	BUD13	11	116631632	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4780082	116631632	18374884	267	267											
DSCAML1	57453	genome.wustl.edu	37	chr11	117651360	117651360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacgtgccggatgtgcGgcacgtcgtagatgtcgtcc	5	9	16	11	7	0	1	0	0	0	1	3	3	1	3	2	3	2	2	2	3	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:117651360G>A	ENST00000321322.6	-	2	393	c.392C>T	c.(391-393)cCg>cTg	p.P131L	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	71	Ig-like C2-type 2.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGGATGTGCGGCACGTCGTA	0.662																																																	0													117	119	118					11																	117651360		2200	4296	6496	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.392C>T	11.37:g.117651360G>A	ENSP00000315465:p.Pro131Leu		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P131L	ENST00000321322.6	37	c.392	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176950	0.78564	.	.	ENSG00000177103	ENST00000321322	T	0.40476	1.03	5.1	5.1	0.69264	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60353	0.2262	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57057	-0.7876	9	0.39692	T	0.17	.	18.9124	0.92491	0.0:0.0:1.0:0.0	.	71	Q8TD84	DSCL1_HUMAN	L	131	ENSP00000315465:P131L	ENSP00000315465:P131L	P	-	2	0	DSCAML1	117156570	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.009000	0.88606	2.536000	0.85505	0.563000	0.77884	CCG	DSCAML1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.662	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	30	0	G	NM_020693		117651360	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	A	A	117651360	G	A	117651360	3	1	1	1	0	0	0	0	1	0	0	0	4783	1116	39	1	6077	1	DSCAML1	11	117651360	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1019728	117651360	17355156	268	268											
B3GAT1	27087	genome.wustl.edu	37	chr11	134253580	134253580	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccctccctcacctcttcGaagagctccaggctgtaggt	6	9	11	15	1	2	1	1	0	1	1	5	2	4	1	4	3	1	3	4	3	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr11:134253580G>A	ENST00000524765.1	-	3	5159	c.615C>T	c.(613-615)ttC>ttT	p.F205F	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Silent_p.F205F|B3GAT1_ENST00000392580.1_Silent_p.F205F|B3GAT1_ENST00000537389.1_Silent_p.F218F			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	205					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TCACCTCTTCGAAGAGCTCCA	0.697																																																	0													26	20	22					11																	134253580		2201	4296	6497	SO:0001819	synonymous_variant	0			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.615C>T	11.37:g.134253580G>A			Q96FS7	Silent	SNP	pfam_Glyco_trans_43	p.F218	ENST00000524765.1	37	c.654	CCDS8500.1	11																																																																																			B3GAT1	-	pfam_Glyco_trans_43	ENSG00000109956		0.697	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	-	0	46	0	G	NM_018644		134253580	-1	tier1	-	no_errors	ENST00000537389	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.987	A	A	134253580	G	A	134253580	2	1	1	1	0	0	0	0	0	0	0	1	1254	1049	37	1		1	B3GAT1	11	134253580	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	16602220	134253580	752936	269	269											
KCNA6	3742	genome.wustl.edu	37	chr12	4919747	4919747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcatcgccatcgtctcCgtgttggtcattctcatctc	5	13	10	13	3	4	0	2	0	3	0	9	0	4	0	2	3	0	2	2	3	0	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:4919747C>T	ENST00000280684.3	+	1	1406	c.540C>T	c.(538-540)tcC>tcT	p.S180S	KCNA6_ENST00000433855.1_Silent_p.S180S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	180					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CCATCGTCTCCGTGTTGGTCA	0.587										HNSCC(72;0.22)																																							0													70	62	64					12																	4919747		2203	4300	6503	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.540C>T	12.37:g.4919747C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S180	ENST00000280684.3	37	c.540	CCDS8534.1	12																																																																																			KCNA6	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.587	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0	49	0	C	NM_002235		4919747	1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	silent	55.26	17	21	SNP	0.021	T	T	4919747	C	T	4919747	2	4	1	1	0	0	0	0	0	0	0	1	8034	639	23	1		1	KCNA6	12	4919747	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		4919747	128932148	270	270											
ZNF384	171017	genome.wustl.edu	37	chr12	6787531	6787531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgagccagggggaagagCtgagacaatcatgggagccg	11	6	17	7	1	1	3	1	2	0	2	1	6	1	5	2	3	3	1	2	3	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:6787531C>T	ENST00000396801.3	-	6	655	c.448G>A	c.(448-450)Gct>Act	p.A150T	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396795.1_Missense_Mutation_p.A150T|ZNF384_ENST00000319770.3_Missense_Mutation_p.A134T|ZNF384_ENST00000361959.3_Missense_Mutation_p.A150T|ZNF384_ENST00000396799.2_Missense_Mutation_p.A150T	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	150					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGGGAAGAGCTGAGACAATC	0.587			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													45	43	44					12																	6787531		2203	4300	6503	SO:0001583	missense	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.448G>A	12.37:g.6787531C>T	ENSP00000380019:p.Ala150Thr		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A150T	ENST00000396801.3	37	c.448	CCDS44817.1	12	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507653	0.44558	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T	0.09723	3.06;2.97;2.95;2.95;2.97;3.44	5.47	4.58	0.56647	.	0.260548	0.37623	N	0.002012	T	0.09774	0.0240	L	0.47716	1.5	0.51012	D	0.999904	B;B;B;B	0.31968	0.349;0.095;0.046;0.046	B;B;B;B	0.25140	0.038;0.058;0.015;0.023	T	0.16600	-1.0397	10	0.21014	T	0.42	-3.1872	12.4018	0.55418	0.0:0.9222:0.0:0.0778	.	150;150;134;150	Q8TF68;E9PHB3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	T	134;150;150;150;150;150;134;134;150;134	ENSP00000321650:A134T;ENSP00000380013:A150T;ENSP00000380019:A150T;ENSP00000354592:A150T;ENSP00000380017:A150T;ENSP00000412911:A134T	ENSP00000321650:A134T	A	-	1	0	ZNF384	6657792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.718000	0.47236	1.308000	0.44962	0.591000	0.81541	GCT	ZNF384	-	NULL	ENSG00000126746		0.587	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	-	0	42	0	C			6787531	-1	tier1	-	no_errors	ENST00000361959	ensembl	human	known	74_37	missense	70.59	5	12	SNP	1.000	T	T	6787531	C	T	6787531	3	4	1	1	0	0	0	0	1	0	0	0	17923	797	28	3	1309	3	ZNF384	12	6787531	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1867784	6787531	127064364	271	271											
MLF2	8079	genome.wustl.edu	37	chr12	6858118	6858118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcgggaggtctcccgcCgccactcgtcatcaaacgct	8	7	11	15	5	3	0	2	0	1	0	6	2	3	2	3	3	1	1	3	3	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:6858118C>T	ENST00000203630.5	-	8	1234	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000542154.1_Missense_Mutation_p.R197Q|MLF2_ENST00000539187.1_Missense_Mutation_p.R197Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R197Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	197					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						GGTCTCCCGCCGCCACTCGTC	0.697																																																	0													15	14	14					12																	6858118		2192	4279	6471	SO:0001583	missense	0			U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.590G>A	12.37:g.6858118C>T	ENSP00000203630:p.Arg197Gln			Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.R197Q	ENST00000203630.5	37	c.590	CCDS8559.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.400|7.400	0.632577|0.632577	0.14322|0.14322	.|.	.|.	ENSG00000089693|ENSG00000089693	ENST00000537126|ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.|.	.|.	.|.	5.21|5.21	4.33|4.33	0.51752|0.51752	.|.	.|0.046101	.|0.85682	.|D	.|0.000000	T|T	0.36220|0.36220	0.0959|0.0959	N|N	0.16307|0.16307	0.4|0.4	0.44469|0.44469	D|D	0.997407|0.997407	.|B	.|0.25743	.|0.133	.|B	.|0.22601	.|0.04	T|T	0.23726|0.23726	-1.0180|-1.0180	6|9	0.87932|0.02654	D|T	0|1	.|.	13.658|13.658	0.62349|0.62349	0.0:0.9256:0.0:0.0743|0.0:0.9256:0.0:0.0743	.|.	.|197	.|Q15773	.|MLF2_HUMAN	S|Q	208|197	.|.	ENSP00000439789:G208S|ENSP00000203630:R197Q	G|R	-|-	1|2	0|0	MLF2|MLF2	6728379|6728379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.024000|0.024000	0.10985|0.10985	6.612000|6.612000	0.74187|0.74187	1.206000|1.206000	0.43276|0.43276	-0.218000|-0.218000	0.12543|0.12543	GGC|CGG	MLF2	-	pfam_Myeloid_leukemia_factor	ENSG00000089693		0.697	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF2	HGNC	protein_coding	OTTHUMT00000400733.2	-	0	100	0	C			6858118	-1	tier1	-	no_errors	ENST00000203630	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	T	T	6858118	C	T	6858118	3	4	1	1	0	0	0	0	1	0	0	0	9654	652	23	1	160	1	MLF2	12	6858118	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	70587	6858118	126993777	272	272											
CD4	920	genome.wustl.edu	37	chr12	6926358	6926358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcccctaagctgatgCtgagtttgaaactggagaac	11	9	9	12	0	0	4	0	3	0	1	1	5	1	4	4	1	4	3	4	1	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:6926358C>T	ENST00000011653.4	+	7	1276	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	340	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	TAAGCTGATGCTGAGTTTGAA	0.567																																																	0													84	65	71					12																	6926358		2203	4300	6503	SO:0001819	synonymous_variant	0			M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1678	protein-coding gene	gene with protein product		186940	"CD4 antigen (p55)", "T-cell surface glycoprotein CD4"				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.1018C>T	12.37:g.6926358C>T			B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Silent	SNP	pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4	p.L340	ENST00000011653.4	37	c.1018	CCDS8562.1	12																																																																																			CD4	-	pfam_Ig_C2-set	ENSG00000010610		0.567	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD4	HGNC	protein_coding	OTTHUMT00000399978.1	-	0	73	0	C	NM_000616		6926358	1	tier1	-	no_errors	ENST00000011653	ensembl	human	known	74_37	silent	42.86	28	21	SNP	0.955	T	T	6926358	C	T	6926358	2	4	1	1	0	0	0	0	0	0	0	1	3021	796	28	3		3	CD4	12	6926358	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	68240	6926358	126925537	273	273											
PZP	5858	genome.wustl.edu	37	chr12	9303324	9303324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaccatgaaggaaaaacTtagcgtctgatttgtcacct	14	10	8	9	1	2	3	1	2	1	1	2	4	2	4	2	1	3	0	2	1	5	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:9303324T>G	ENST00000261336.2	-	34	4328	c.4300A>C	c.(4300-4302)Agt>Cgt	p.S1434R	PZP_ENST00000381997.2_Missense_Mutation_p.S1220R	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1434					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAGGAAAAACTTAGCGTCTGA	0.383																																					Melanoma(125;1402 1695 4685 34487 38571)												0													110	106	108					12																	9303324		2203	4300	6503	SO:0001583	missense	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4300A>C	12.37:g.9303324T>G	ENSP00000261336:p.Ser1434Arg		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S1434R	ENST00000261336.2	37	c.4300	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	T	5.687	0.311262	0.10789	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.22134	1.97;1.97	3.95	2.72	0.32119	Alpha-macroglobulin, receptor-binding (3);	1.354810	0.05109	U	0.488557	T	0.46521	0.1397	M	0.82132	2.575	0.09310	N	1	P;D	0.69078	0.817;0.997	B;D	0.68765	0.258;0.96	T	0.03597	-1.1021	10	0.62326	D	0.03	.	5.3898	0.16237	0.1753:0.0:0.1816:0.6431	.	1220;1434	P20742-2;P20742	.;PZP_HUMAN	R	1434;1220	ENSP00000261336:S1434R;ENSP00000371427:S1220R	ENSP00000261336:S1434R	S	-	1	0	PZP	9194591	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.879000	0.28146	0.571000	0.29365	0.460000	0.39030	AGT	PZP	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd	ENSG00000126838		0.383	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	-	0	50	0	T	NM_002864		9303324	-1	tier1	-	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	60.00	12	18	SNP	0.019	G	G	9303324	T	G	9303324	3	3	1	1	0	0	0	0	1	0	0	0	12914	1609	56	4	160	4	PZP	12	9303324	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	2376966	9303324	124548571	274	274											
ERP27	121506	genome.wustl.edu	37	chr12	15067707	15067707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtctttccttctgattcacGattttctttctggaaaacat	9	18	5	9	1	5	1	1	1	4	0	6	3	6	2	1	1	1	0	1	1	2	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:15067707G>A	ENST00000266397.2	-	7	1357	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	ERP27_ENST00000544881.1_5'Flank|ERP27_ENST00000540097.1_Missense_Mutation_p.R161C	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	262						endoplasmic reticulum (GO:0005783)		p.R262C(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TCTGATTCACGATTTTCTTTC	0.348																																																	1	Substitution - Missense(1)	skin(1)											159	138	145					12																	15067707		2203	4300	6503	SO:0001583	missense	0			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.784C>T	12.37:g.15067707G>A	ENSP00000266397:p.Arg262Cys			Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.R262C	ENST00000266397.2	37	c.784	CCDS8670.1	12	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203794	0.09704	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.46063	1.87;0.88	4.54	1.28	0.21552	Thioredoxin-like fold (1);	1.387170	0.04034	N	0.302047	T	0.26991	0.0661	N	0.14661	0.345	0.31138	N	0.707009	B	0.33904	0.431	B	0.29942	0.109	T	0.31833	-0.9929	10	0.62326	D	0.03	-1.7958	6.8799	0.24166	0.0:0.1617:0.4087:0.4296	.	262	Q96DN0	ERP27_HUMAN	C	262;161	ENSP00000266397:R262C;ENSP00000440573:R161C	ENSP00000266397:R262C	R	-	1	0	ERP27	14958974	0.017000	0.18338	0.157000	0.22605	0.122000	0.20287	0.514000	0.22786	0.246000	0.21394	0.655000	0.94253	CGT	ERP27	-	superfamily_Thioredoxin-like_fold	ENSG00000139055		0.348	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	-	0	37	0	G	NM_152321		15067707	-1	tier1	-	no_errors	ENST00000266397	ensembl	human	known	74_37	missense	50.00	14	14	SNP	0.178	A	A	15067707	G	A	15067707	3	1	1	1	0	0	0	0	1	0	0	0	5257	1058	37	1	41	1	ERP27	12	15067707	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5764383	15067707	118784188	275	275											
LRRK2	120892	genome.wustl.edu	37	chr12	40646757	40646757	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctccatgctgatgcattcTtcatcaaaggaagttttcca	10	14	6	11	0	4	1	2	1	2	0	6	2	5	2	2	1	2	3	2	1	2	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:40646757T>G	ENST00000298910.7	+	11	1285	c.1227T>G	c.(1225-1227)tcT>tcG	p.S409S	LRRK2_ENST00000343742.2_Silent_p.S409S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	409					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGATGCATTCTTCATCAAAGG	0.363																																																	0													89	86	87					12																	40646757		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1227T>G	12.37:g.40646757T>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.S409	ENST00000298910.7	37	c.1227	CCDS31774.1	12																																																																																			LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	47	0	T	XM_058513		40646757	1			no_errors	ENST00000298910	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.974	G	G	40646757	T	G	40646757	2	3	1	1	0	0	0	0	0	0	0	1	9068	1596	56	4		4	LRRK2	12	40646757	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	25579050	40646757	93205138	276	276											
NELL2	4753	genome.wustl.edu	37	chr12	45269600	45269600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctctgcggccactcacctGctccgagaccgaagatcaaa	11	6	9	15	3	3	2	2	0	1	2	4	4	4	2	4	1	3	2	4	1	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:45269600G>T	ENST00000429094.2	-	1	557	c.53C>A	c.(52-54)gCa>gAa	p.A18E	NELL2_ENST00000395487.2_5'Flank|NELL2_ENST00000333837.4_Missense_Mutation_p.A41E|NELL2_ENST00000437801.2_Missense_Mutation_p.A68E|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000548826.1_Missense_Mutation_p.A18E|NELL2_ENST00000452445.2_Missense_Mutation_p.A18E	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	18						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCACTCACCTGCTCCGAGACC	0.567																																																	0													82	89	87					12																	45269600		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.53C>A	12.37:g.45269600G>T	ENSP00000390680:p.Ala18Glu		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.A68E	ENST00000429094.2	37	c.203	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616560	0.66672	.	.	ENSG00000184613	ENST00000429094;ENST00000452445;ENST00000333837;ENST00000437801;ENST00000552993;ENST00000548826;ENST00000551949	T;T;T;D;T;T;T	0.82167	-1.48;-1.48;-1.46;-1.58;2.73;1.51;-1.02	4.95	4.95	0.65309	.	0.146846	0.43747	D	0.000539	T	0.77405	0.4125	L	0.48642	1.525	0.80722	D	1	B;B;P;B	0.37525	0.141;0.002;0.598;0.0	B;B;B;B	0.29176	0.063;0.002;0.099;0.001	T	0.80919	-0.1167	10	0.66056	D	0.02	-7.6534	17.3194	0.87232	0.0:0.0:1.0:0.0	.	41;68;18;18	B7Z2U7;B7Z9U3;B3KTI3;Q99435	.;.;.;NELL2_HUMAN	E	18;18;41;68;18;18;18	ENSP00000390680:A18E;ENSP00000394612:A18E;ENSP00000327988:A41E;ENSP00000416341:A68E;ENSP00000447085:A18E;ENSP00000448635:A18E;ENSP00000446961:A18E	ENSP00000327988:A41E	A	-	2	0	NELL2	43555867	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	2.442000	0.82660	0.650000	0.86243	GCA	NELL2	-	NULL	ENSG00000184613		0.567	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	80	0	G	NM_006159		45269600	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	55.22	30	37	SNP	1.000	T	T	45269600	G	T	45269600	3	4	1	1	0	0	0	0	1	0	0	0	10373	1319	46	3	2533	3	NELL2	12	45269600	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4622843	45269600	88582295	277	277											
KRT18	3875	genome.wustl.edu	37	chr12	53346032	53346033	+	Frame_Shift_Ins	INS	-	-	C																															ggcagagggacagcgccaggINScccaggagtatgaggccctg																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:53346032_53346033insC	ENST00000388835.3	+	6	1288_1289	c.1078_1079insC	c.(1078-1080)gccfs	p.A360fs	KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Frame_Shift_Ins_p.A360fs|KRT8_ENST00000549198.1_5'Flank|KRT18_ENST00000388837.2_Frame_Shift_Ins_p.A360fs	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	360	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACAGCGCCAGGCCCAGGAGTAT	0.624																																																	0																																										SO:0001589	frameshift_variant	0				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"-", "Intermediate filaments type I, keratins (acidic)"	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1081dupC	12.37:g.53346035_53346035dupC	ENSP00000373487:p.Ala360fs		Q53G38|Q5U0N8|Q9BW26	Frame_Shift_Ins	INS	pfam_IF,prints_Keratin_I	p.Q361fs	ENST00000388835.3	37	c.1078_1079	CCDS31809.1	12																																																																																			KRT18	-	pfam_IF	ENSG00000111057		0.624	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1		0	24	0	-	NM_199187		53346033	1	tier1		no_errors	ENST00000388835	ensembl	human	known	74_37	frame_shift_ins	46.88	17	15	INS	0.961:0.971	C	C	53346033	-	C	53346032	7	5	1	1	0	1	1	0	0	0	0	0	8482	1203	42	0	1100	0	KRT18	12	53346032	Frame_Shift_Ins	INS	-	TCGA-2H-A9GF-01A-11D-A37C-09	8076432	53346032	80505863	278	278											
LACRT	90070	genome.wustl.edu	37	chr12	55028588	55028588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatagaccagggcccctGctacagctgccaagaagagg	12	4	12	13	0	0	3	0	0	0	3	0	3	0	3	4	2	5	3	4	2	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:55028588G>A	ENST00000257867.4	-	1	91	c.38C>T	c.(37-39)gCa>gTa	p.A13V	LACRT_ENST00000547511.1_Missense_Mutation_p.A13V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	13					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CAGGGCCCCTGCTACAGCTGC	0.542																																																	0													122	115	117					12																	55028588		2203	4300	6503	SO:0001583	missense	0			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.38C>T	12.37:g.55028588G>A	ENSP00000257867:p.Ala13Val			Missense_Mutation	SNP	NULL	p.A13V	ENST00000257867.4	37	c.38	CCDS8883.1	12	.	.	.	.	.	.	.	.	.	.	G	8.397	0.841112	0.16891	.	.	ENSG00000135413	ENST00000547511;ENST00000257867	.	.	.	3.84	0.916	0.19373	.	0.842328	0.09672	N	0.770983	T	0.25005	0.0607	N	0.19112	0.55	0.09310	N	1	P	0.50943	0.94	P	0.51016	0.656	T	0.14035	-1.0487	9	0.87932	D	0	.	3.0703	0.06229	0.231:0.0:0.5558:0.2132	.	13	Q9GZZ8	LACRT_HUMAN	V	13	.	ENSP00000257867:A13V	A	-	2	0	LACRT	53314855	0.023000	0.18921	0.113000	0.21522	0.013000	0.08279	0.115000	0.15540	0.202000	0.20498	0.563000	0.77884	GCA	LACRT	-	NULL	ENSG00000135413		0.542	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACRT	HGNC	protein_coding	OTTHUMT00000406615.1	-	0	85	0	G	NM_033277		55028588	-1	tier1	-	no_errors	ENST00000257867	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.112	A	A	55028588	G	A	55028588	3	1	1	1	0	0	0	0	1	0	0	0	8624	1319	46	3	398	3	LACRT	12	55028588	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1682556	55028588	78823307	279	279											
ITGA7	3679	genome.wustl.edu	37	chr12	56086693	56086693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacatgctgggctcctgccGctcaccaggctcctgctgct	4	9	12	16	1	1	0	1	0	0	0	3	1	3	1	4	3	4	6	4	3	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:56086693G>A	ENST00000555728.1	-	22	2939	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	ITGA7_ENST00000257880.7_Missense_Mutation_p.R971W|ITGA7_ENST00000553804.1_Missense_Mutation_p.R931W|ITGA7_ENST00000347027.6_Missense_Mutation_p.R921W|ITGA7_ENST00000394230.2_Missense_Mutation_p.R931W|ITGA7_ENST00000452168.2_Missense_Mutation_p.R834W|ITGA7_ENST00000257879.6_Missense_Mutation_p.R927W|ITGA7_ENST00000394229.2_Missense_Mutation_p.R927W			Q13683	ITA7_HUMAN	integrin, alpha 7	971					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCTCCTGCCGCTCACCAGGC	0.627																																																	0													41	39	40					12																	56086693		2203	4300	6503	SO:0001583	missense	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2911C>T	12.37:g.56086693G>A	ENSP00000452387:p.Arg971Trp		B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R971W	ENST00000555728.1	37	c.2911		12	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288934	0.40494	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	4.85	2.95	0.34219	Integrin alpha-2 (1);	1.157270	0.06229	N	0.688347	T	0.49115	0.1538	L	0.32530	0.975	0.21105	N	0.99978	D;P;P;P	0.59357	0.985;0.754;0.71;0.917	P;P;B;P	0.54815	0.761;0.533;0.398;0.72	T	0.38607	-0.9653	10	0.87932	D	0	.	5.237	0.15452	0.1036:0.0:0.683:0.2135	.	834;971;931;990	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	W	931;927;921;834;971;931;927;800;971	ENSP00000452120:R931W;ENSP00000257879:R927W;ENSP00000343009:R921W;ENSP00000393844:R834W;ENSP00000257880:R971W;ENSP00000377777:R931W;ENSP00000377776:R927W;ENSP00000452387:R971W	ENSP00000257879:R927W	R	-	1	2	ITGA7	54372960	0.996000	0.38824	0.540000	0.28089	0.255000	0.26057	2.564000	0.45931	1.363000	0.46019	0.585000	0.79938	CGG	ITGA7	-	pfam_Integrin_alpha-2	ENSG00000135424		0.627	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	-	0	38	0	G	NM_002206		56086693	-1	tier1	-	no_errors	ENST00000555728	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.475	A	A	56086693	G	A	56086693	3	1	1	1	0	0	0	0	1	0	0	0	7908	1086	38	1	654	1	ITGA7	12	56086693	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1058105	56086693	77765202	280	280											
STAC3	246329	genome.wustl.edu	37	chr12	57643391	57643391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggaaggagggcttaGgggactccagcacctccttt	7	9	14	11	0	0	0	0	0	0	0	2	3	2	3	3	5	2	3	3	5	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:57643391G>T	ENST00000332782.2	-	2	230	c.29C>A	c.(28-30)cCt>cAt	p.P10H	R3HDM2_ENST00000413953.2_Intron|STAC3_ENST00000554578.1_Intron|STAC3_ENST00000546246.2_Intron|RP11-123K3.4_ENST00000548184.1_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	10					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGAGGGCTTAGGGGACTCCAG	0.547																																																	0													67	64	65					12																	57643391		2203	4300	6503	SO:0001583	missense	0			AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.29C>A	12.37:g.57643391G>T	ENSP00000329200:p.Pro10His		B4DUK9|Q96HU5	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.P10H	ENST00000332782.2	37	c.29	CCDS8936.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030502	0.75504	.	.	ENSG00000185482	ENST00000332782;ENST00000553489	T;D	0.94687	-1.48;-3.49	4.92	4.02	0.46733	.	0.186018	0.26704	N	0.022929	D	0.86994	0.6067	N	0.08118	0	0.80722	D	1	B	0.24576	0.106	B	0.27170	0.077	T	0.82594	-0.0380	10	0.34782	T	0.22	-10.4763	12.0929	0.53737	0.0:0.0:0.8272:0.1728	.	10	Q96MF2	STAC3_HUMAN	H	10	ENSP00000329200:P10H;ENSP00000452299:P10H	ENSP00000329200:P10H	P	-	2	0	STAC3	55929658	0.994000	0.37717	1.000000	0.80357	0.995000	0.86356	3.800000	0.55537	1.209000	0.43321	0.650000	0.86243	CCT	STAC3	-	NULL	ENSG00000185482		0.547	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC3	HGNC	protein_coding	OTTHUMT00000412724.2	-	0	74	0	G	NM_145064		57643391	-1	tier1	-	no_errors	ENST00000332782	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	57643391	G	T	57643391	3	4	1	1	0	0	0	0	1	0	0	0	15288	1000	35	3	1109	3	STAC3	12	57643391	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1556698	57643391	76208504	281	281											
HELB	92797	genome.wustl.edu	37	chr12	66696520	66696520	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttcatcgacgccgaggAgctctgcagtgggggcgtaa	7	8	16	10	5	2	0	1	0	1	0	3	3	2	1	1	3	2	4	1	3	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:66696520A>T	ENST00000247815.4	+	1	196	c.137A>T	c.(136-138)gAg>gTg	p.E46V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	46					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GACGCCGAGGAGCTCTGCAGT	0.652																																																	0													47	41	43					12																	66696520		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.137A>T	12.37:g.66696520A>T	ENSP00000247815:p.Glu46Val		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.E46V	ENST00000247815.4	37	c.137	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191260	0.78902	.	.	ENSG00000127311	ENST00000247815	T	0.17213	2.29	5.71	5.71	0.89125	.	0.122741	0.52532	D	0.000073	T	0.38878	0.1057	M	0.65498	2.005	0.44295	D	0.997161	D	0.89917	1.0	D	0.83275	0.996	T	0.10019	-1.0648	9	.	.	.	-29.3007	12.3742	0.55271	1.0:0.0:0.0:0.0	.	46	Q8NG08	HELB_HUMAN	V	46	ENSP00000247815:E46V	.	E	+	2	0	HELB	64982787	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	4.188000	0.58351	2.185000	0.69588	0.459000	0.35465	GAG	HELB	-	NULL	ENSG00000127311		0.652	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	-	0	36	0	A			66696520	1	tier1	-	no_errors	ENST00000247815	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	T	T	66696520	A	T	66696520	3	4	1	1	0	0	0	0	1	0	0	0	7072	304	11	5	139	5	HELB	12	66696520	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	9053129	66696520	67155375	282	282											
OSBPL8	114882	genome.wustl.edu	37	chr12	76786438	76786438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgctatctgatgaaacGctcaggtcatgttcctttcc	7	15	9	10	1	3	2	2	2	1	0	5	2	5	2	2	1	2	3	2	1	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:76786438G>A	ENST00000261183.3	-	10	1331	c.852C>T	c.(850-852)agC>agT	p.S284S	OSBPL8_ENST00000393250.4_Silent_p.S242S|OSBPL8_ENST00000393249.2_Silent_p.S242S	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	284					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CTGATGAAACGCTCAGGTCAT	0.423																																																	0													270	207	229					12																	76786438		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.852C>T	12.37:g.76786438G>A			A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S284	ENST00000261183.3	37	c.852	CCDS31862.1	12																																																																																			OSBPL8	-	NULL	ENSG00000091039		0.423	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	-	0	68	0	G	NM_020841		76786438	-1	tier1	-	no_errors	ENST00000261183	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.999	A	A	76786438	G	A	76786438	2	1	1	1	0	0	0	0	0	0	0	1	11322	1078	38	1		1	OSBPL8	12	76786438	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	10089918	76786438	57065457	283	283											
MYBPC1	4604	genome.wustl.edu	37	chr12	102041837	102041837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactagagcctccaattatgGtgaccaaacagctggaagat	14	9	9	9	0	0	3	0	1	0	2	1	4	1	4	3	2	4	1	3	2	6	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:102041837G>C	ENST00000550270.1	+	12	1030	c.1030G>C	c.(1030-1032)Gtg>Ctg	p.V344L	MYBPC1_ENST00000360610.2_Missense_Mutation_p.V344L|MYBPC1_ENST00000361685.2_Missense_Mutation_p.V369L|MYBPC1_ENST00000547405.1_Missense_Mutation_p.V318L|MYBPC1_ENST00000361466.2_Missense_Mutation_p.V369L|MYBPC1_ENST00000553190.1_Missense_Mutation_p.V344L|MYBPC1_ENST00000547509.1_Missense_Mutation_p.V330L|MYBPC1_ENST00000452455.2_Missense_Mutation_p.V344L|MYBPC1_ENST00000392934.3_Missense_Mutation_p.V331L|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000549145.1_Missense_Mutation_p.V357L|MYBPC1_ENST00000441232.1_Missense_Mutation_p.V344L|MYBPC1_ENST00000545503.2_Missense_Mutation_p.V344L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.V325L|MYBPC1_ENST00000541119.1_Missense_Mutation_p.V332L|MYBPC1_ENST00000551300.1_Missense_Mutation_p.V245L|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	344	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCCAATTATGGTGACCAAACA	0.393																																																	0													147	136	140					12																	102041837		2203	4300	6503	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.1030G>C	12.37:g.102041837G>C	ENSP00000449702:p.Val344Leu		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V369L	ENST00000550270.1	37	c.1105	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237870	0.79800	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.96	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000283	T	0.69433	0.3110	L	0.33093	0.98	0.41747	D	0.989647	P;P;B;P;P;P;P;P;B;P;P	0.46859	0.885;0.832;0.256;0.885;0.73;0.603;0.684;0.885;0.086;0.861;0.861	P;B;B;B;P;P;B;P;B;B;P	0.53760	0.734;0.422;0.145;0.422;0.491;0.513;0.297;0.491;0.131;0.297;0.495	T	0.73748	-0.3885	10	0.72032	D	0.01	.	16.6211	0.84930	0.0:0.0:0.8688:0.1312	.	325;332;344;344;331;318;344;344;369;369;357	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	L	318;344;344;344;331;330;369;357;344;369;344;325;332;369;245;344	ENSP00000448175:V318L;ENSP00000400908:V344L;ENSP00000388989:V344L;ENSP00000353822:V344L;ENSP00000376665:V331L;ENSP00000447362:V330L;ENSP00000354845:V369L;ENSP00000447660:V357L;ENSP00000447900:V344L;ENSP00000440034:V344L;ENSP00000446128:V325L;ENSP00000442847:V332L;ENSP00000354849:V369L;ENSP00000447116:V245L;ENSP00000449702:V344L	ENSP00000353822:V344L	V	+	1	0	MYBPC1	100565968	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.759000	0.68785	1.519000	0.48950	0.655000	0.94253	GTG	MYBPC1	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000196091		0.393	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	-	0	44	0	G			102041837	1	tier1	-	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	102041837	G	C	102041837	3	2	1	1	0	0	0	0	1	0	0	0	10049	1261	44	5	1159	5	MYBPC1	12	102041837	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	25255399	102041837	31810058	284	284											
STAB2	55576	genome.wustl.edu	37	chr12	104131498	104131498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctacggcattgactgTctgctgattgatcccaccct	6	12	10	13	1	1	3	0	3	1	0	2	3	2	3	3	2	2	2	3	2	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:104131498T>C	ENST00000388887.2	+	53	5841	c.5637T>C	c.(5635-5637)tgT>tgC	p.C1879C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCATTGACTGTCTGCTGATTG	0.498																																																	0													113	107	109					12																	104131498		2203	4300	6503	SO:0001819	synonymous_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5637T>C	12.37:g.104131498T>C				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1879	ENST00000388887.2	37	c.5637	CCDS31888.1	12																																																																																			STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	97	0	T			104131498	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	silent	15.58	129	24	SNP	0.999	C	C	104131498	T	C	104131498	2	2	1	1	0	0	0	0	0	0	0	1	15285	1673	58	4		4	STAB2	12	104131498	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	2089661	104131498	29720397	285	285											
CMKLR1	1240	genome.wustl.edu	37	chr12	108686358	108686358	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgatgatggtcagcaggaAgacgctggtgaacatgttgt	10	10	15	6	1	1	4	1	3	0	1	1	5	1	5	0	3	2	4	0	3	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:108686358A>C	ENST00000312143.7	-	3	745	c.382T>G	c.(382-384)Ttc>Gtc	p.F128V	CMKLR1_ENST00000552995.1_Missense_Mutation_p.F126V|CMKLR1_ENST00000412676.1_Missense_Mutation_p.F128V|CMKLR1_ENST00000550402.1_Missense_Mutation_p.F128V|CMKLR1_ENST00000397688.2_Missense_Mutation_p.F126V	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	128					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTCAGCAGGAAGACGCTGGTG	0.557																																																	0													99	104	102					12																	108686358		2164	4278	6442	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.382T>G	12.37:g.108686358A>C	ENSP00000311733:p.Phe128Val		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.F128V	ENST00000312143.7	37	c.382	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	a	16.83	3.231819	0.58777	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402;ENST00000550573;ENST00000549466	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.23	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.176474	0.51477	D	0.000099	T	0.67097	0.2857	M	0.92412	3.305	0.46701	D	0.999167	D	0.63046	0.992	D	0.66351	0.943	T	0.70517	-0.4850	10	0.87932	D	0	.	8.0674	0.30669	0.8306:0.0:0.1694:0.0	.	128	Q99788	CML1_HUMAN	V	128;128;126;126;128;128;128	ENSP00000311733:F128V;ENSP00000401293:F128V;ENSP00000380803:F126V;ENSP00000447579:F126V;ENSP00000449716:F128V;ENSP00000448925:F128V;ENSP00000448362:F128V	ENSP00000311733:F128V	F	-	1	0	CMKLR1	107210488	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.378000	0.59568	0.829000	0.34733	0.398000	0.26397	TTC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_ATII_rcpt	ENSG00000174600		0.557	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	-	0	39	0	A			108686358	-1	tier1	-	no_errors	ENST00000312143	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	C	C	108686358	A	C	108686358	3	2	1	1	0	0	0	0	1	0	0	0	3586	72	3	4	743	4	CMKLR1	12	108686358	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	4554860	108686358	25165537	286	286											
UBE3B	89910	genome.wustl.edu	37	chr12	109959339	109959339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtttgtggggaagatgctgGggaaggctgtgtatgaggta	9	11	19	2	0	0	2	0	1	0	1	0	4	0	4	0	6	1	5	0	6	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:109959339G>C	ENST00000342494.3	+	21	2942	c.2347G>C	c.(2347-2349)Ggg>Cgg	p.G783R	UBE3B_ENST00000434735.2_Missense_Mutation_p.G783R	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	783	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAAGATGCTGGGGAAGGCTGT	0.463																																																	0													96	86	89					12																	109959339		2203	4300	6503	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.2347G>C	12.37:g.109959339G>C	ENSP00000340596:p.Gly783Arg		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.G783R	ENST00000342494.3	37	c.2347	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.073706	0.94000	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.60920	0.15;0.15;0.15	5.18	5.18	0.71444	HECT (4);	0.000000	0.85682	D	0.000000	D	0.86707	0.5997	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92209	0.5774	10	0.87932	D	0	-11.1155	17.86	0.88778	0.0:0.0:1.0:0.0	.	783	Q7Z3V4	UBE3B_HUMAN	R	783;783;783;210;78	ENSP00000391529:G783R;ENSP00000443131:G783R;ENSP00000340596:G783R	ENSP00000340596:G783R	G	+	1	0	UBE3B	108443722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.172000	0.94808	2.684000	0.91462	0.655000	0.94253	GGG	UBE3B	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000151148		0.463	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	-	0	60	0	G	NM_183415		109959339	1	tier1	-	no_errors	ENST00000342494	ensembl	human	known	74_37	missense	7.29	89	7	SNP	1.000	C	C	109959339	G	C	109959339	3	2	1	1	0	0	0	0	1	0	0	0	16929	1232	43	5	2421	5	UBE3B	12	109959339	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1272981	109959339	23892556	287	287											
CUX2	23316	genome.wustl.edu	37	chr12	111776207	111776207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcgggagccttttgtccGcatgcagctgtggctcaatg	5	10	16	10	2	1	0	1	0	0	0	2	1	2	1	2	4	3	4	2	4	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:111776207G>A	ENST00000261726.6	+	20	3468	c.3314G>A	c.(3313-3315)cGc>cAc	p.R1105H	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1105					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTTTTGTCCGCATGCAGCTG	0.587																																																	0													53	61	58					12																	111776207		2011	4205	6216	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3314G>A	12.37:g.111776207G>A	ENSP00000261726:p.Arg1105His		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R1105H	ENST00000261726.6	37	c.3314	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.418749	0.96092	.	.	ENSG00000111249	ENST00000261726	T	0.70869	-0.52	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.87641	0.6228	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90029	0.4133	10	0.87932	D	0	-19.9088	19.0362	0.92980	0.0:0.0:1.0:0.0	.	1105	O14529	CUX2_HUMAN	H	1105	ENSP00000261726:R1105H	ENSP00000261726:R1105H	R	+	2	0	CUX2	110260590	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.869000	0.99810	2.495000	0.84180	0.655000	0.94253	CGC	CUX2	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000111249		0.587	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1		0	39	0	G	NM_015267		111776207	1			no_errors	ENST00000261726	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	A	A	111776207	G	A	111776207	3	1	1	1	0	0	0	0	1	0	0	0	4074	1087	38	1	3392	1	CUX2	12	111776207	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1816868	111776207	22075688	288	288											
C12orf51	283450	genome.wustl.edu	37	chr12	112704775	112704775	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcacctgggtacaagataTttaaaccagagctgaaatga	15	11	8	7	0	1	4	1	2	0	2	1	4	1	4	2	1	3	2	2	1	6	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:112704775T>A	ENST00000430131.2	-	13	2182	c.1037A>T	c.(1036-1038)aAt>aTt	p.N346I	HECTD4_ENST00000550722.1_Missense_Mutation_p.N634I|RN7SKP71_ENST00000364558.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.N596I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	346					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTACAAGATATTTAAACCAGA	0.274																																																	0													37	37	37					12																	112704775		2175	4240	6415	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1037A>T	12.37:g.112704775T>A	ENSP00000404379:p.Asn346Ile		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.N596I	ENST00000430131.2	37	c.1787		12	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794997	0.31777	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000550724	T;T;T	0.49139	0.79;0.79;0.79	6.03	4.84	0.62591	.	0.051894	0.85682	D	0.000000	T	0.37705	0.1013	N	0.14661	0.345	0.40088	D	0.976229	P;P;P	0.48016	0.904;0.622;0.904	B;B;P	0.45829	0.408;0.169;0.494	T	0.46317	-0.9200	10	0.87932	D	0	.	14.6523	0.68805	0.0:0.0:0.1286:0.8714	.	346;346;346	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	I	596;346;634;24	ENSP00000366783:N596I;ENSP00000404379:N346I;ENSP00000449784:N634I	ENSP00000366783:N596I	N	-	2	0	C12orf51	111189158	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.196000	0.58407	2.302000	0.77476	0.533000	0.62120	AAT	HECTD4	-	NULL	ENSG00000173064		0.274	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	32	0	T	NM_173813		112704775	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A	A	112704775	T	A	112704775	3	1	1	1	0	0	0	0	1	0	0	0	1701	1493	52	5	11205	5	C12orf51	12	112704775	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	928568	112704775	21147120	289	289											
TBX5	6910	genome.wustl.edu	37	chr12	114793830	114793830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgtggatagctagagCggtagaaggaatcttcttca	10	11	13	7	1	3	2	1	0	2	2	3	4	3	4	0	3	3	4	0	3	5	5	rs145784562		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:114793830C>A	ENST00000310346.4	-	9	1730	c.1064G>T	c.(1063-1065)cGc>cTc	p.R355L	TBX5_ENST00000405440.2_Missense_Mutation_p.R355L|TBX5_ENST00000349716.5_Missense_Mutation_p.R305L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	355					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		ATAGCTAGAGCGGTAGAAGGA	0.562																																					NSCLC(152;1358 1980 4050 23898 40356)												0													121	111	114					12																	114793830		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1064G>T	12.37:g.114793830C>A	ENSP00000309913:p.Arg355Leu		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R355L	ENST00000310346.4	37	c.1064	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881885	0.91740	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.53423	0.62;0.62;0.62	5.27	5.27	0.74061	.	0.281915	0.33895	N	0.004457	T	0.62672	0.2447	M	0.79475	2.455	0.80722	D	1	D	0.58620	0.983	P	0.51806	0.68	T	0.65894	-0.6057	10	0.45353	T	0.12	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	355	Q99593	TBX5_HUMAN	L	305;355;252;355	ENSP00000337723:R305L;ENSP00000309913:R355L;ENSP00000384152:R355L	ENSP00000309913:R355L	R	-	2	0	TBX5	113278213	1.000000	0.71417	0.949000	0.38748	0.831000	0.47069	7.487000	0.81328	2.463000	0.83235	0.655000	0.94253	CGC	TBX5	-	NULL	ENSG00000089225		0.562	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0	35	0	C	NM_080717		114793830	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	A	A	114793830	C	A	114793830	3	1	1	1	0	0	0	0	1	0	0	0	15708	768	27	2	496	2	TBX5	12	114793830	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	2089055	114793830	19058065	290	290											
OGFOD2	79676	genome.wustl.edu	37	chr12	123463398	123463398	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtaccctgactgtggCgggggccggctcgacagcca	5	7	15	14	3	0	1	0	1	0	0	1	2	0	1	3	4	3	3	3	4	1	1	rs565765262	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:123463398C>T	ENST00000228922.7	+	6	662	c.630C>T	c.(628-630)ggC>ggT	p.G210G	OGFOD2_ENST00000545612.1_Silent_p.G46G|ARL6IP4_ENST00000454885.2_5'Flank|ARL6IP4_ENST00000357866.4_5'Flank|OGFOD2_ENST00000542117.1_3'UTR|ARL6IP4_ENST00000315580.5_5'Flank|ARL6IP4_ENST00000412505.2_5'Flank|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000453766.2_5'Flank|ARL6IP4_ENST00000543566.1_5'Flank|ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000538755.1_Silent_p.G46G|OGFOD2_ENST00000397389.2_Silent_p.G150G|ARL6IP4_ENST00000392435.2_5'Flank|OGFOD2_ENST00000536150.1_Silent_p.G46G|OGFOD2_ENST00000545317.1_Silent_p.G46G|OGFOD2_ENST00000454694.2_Silent_p.G46G|OGFOD2_ENST00000538628.1_Silent_p.G46G|ARL6IP4_ENST00000426960.2_5'Flank|ARL6IP4_ENST00000439686.2_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	210							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CTGACTGTGGCGGGGGCCGGC	0.662													C|||	5	0.000998403	0	0	5008	,	,		16253	0.001		0	False		,,,				2504	0.0041																0													13	18	17					12																	123463398		2068	4205	6273	SO:0001819	synonymous_variant	0			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.630C>T	12.37:g.123463398C>T			B3KT24|Q4KN13|Q6N023|Q9H8K6	Silent	SNP	smart_Pro_4_hyd_alph	p.G210	ENST00000228922.7	37	c.630		12																																																																																			OGFOD2	-	smart_Pro_4_hyd_alph	ENSG00000111325		0.662	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1	-	0	95	0	C	NM_024623		123463398	1	tier1	-	no_errors	ENST00000228922	ensembl	human	known	74_37	silent	31.71	84	39	SNP	0.001	T	T	123463398	C	T	123463398	2	4	1	1	0	0	0	0	0	0	0	1	10881	755	27	1		1	OGFOD2	12	123463398	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	8669568	123463398	10388497	291	291											
DDX55	57696	genome.wustl.edu	37	chr12	124104544	124104546	+	In_Frame_Del	DEL	CTT	CTT	-																															aagatgaggacatggaagaaCttcttaatgacacaagactc																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:124104544_124104546delCTT	ENST00000238146.4	+	14	1710_1712	c.1660_1662delCTT	c.(1660-1662)cttdel	p.L555del	DDX55_ENST00000538744.1_In_Frame_Del_p.L524del|DDX55_ENST00000421670.3_In_Frame_Del_p.L162del	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	555	Lys-rich.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CATGGAAGAACTTCTTAATGACA	0.35																																																	0																																										SO:0001651	inframe_deletion	0			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1660_1662delCTT	12.37:g.124104547_124104549delCTT	ENSP00000238146:p.Leu555del		Q658L6|Q8IYH0|Q9HCH7	In_Frame_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L555in_frame_del	ENST00000238146.4	37	c.1660_1662	CCDS9251.1	12																																																																																			DDX55	-	NULL	ENSG00000111364		0.35	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX55	HGNC	protein_coding	OTTHUMT00000400616.2		0	35	0	CTT			124104546	1	tier1		no_errors	ENST00000238146	ensembl	human	known	74_37	in_frame_del	18.60	35	8	DEL	1.000:1.000:0.978	-	-	124104546	CTT	-	124104544	7	5	1	1	0	1	0	1	0	0	0	0	4382	565	20	0	1714	0	DDX55	12	124104544	In_Frame_Del	DEL	CTT	TCGA-2H-A9GF-01A-11D-A37C-09	641146	124104544	9747351	292	292											
RIMBP2	23504	genome.wustl.edu	37	chr12	130884319	130884319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaggcacttcttccaagaAgtttgagggcacaaggcctt	11	10	10	10	0	2	2	1	1	1	1	3	2	3	2	2	3	0	3	2	3	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr12:130884319A>C	ENST00000261655.4	-	18	3200	c.3037T>G	c.(3037-3039)Ttc>Gtc	p.F1013V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1013	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTTCCAAGAAGTTTGAGGGC	0.463																																																	0													114	103	106					12																	130884319		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.3037T>G	12.37:g.130884319A>C	ENSP00000261655:p.Phe1013Val		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.F1013V	ENST00000261655.4	37	c.3037	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800618	0.90538	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.53857	0.6;0.6	5.32	5.32	0.75619	Src homology-3 domain (4);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.78489	-0.2184	10	0.87932	D	0	-33.4778	15.3201	0.74115	1.0:0.0:0.0:0.0	.	1013	O15034	RIMB2_HUMAN	V	1013;150	ENSP00000261655:F1013V;ENSP00000439030:F150V	ENSP00000261655:F1013V	F	-	1	0	RIMBP2	129450272	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.898000	0.92538	2.028000	0.59812	0.392000	0.25879	TTC	RIMBP2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000060709		0.463	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	45	0	A	NM_015347		130884319	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	C	C	130884319	A	C	130884319	3	2	1	1	0	0	0	0	1	0	0	0	13408	72	3	4	129	4	RIMBP2	12	130884319	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	6779775	130884319	2967576	293	293											
NBEA	26960	genome.wustl.edu	37	chr13	36245077	36245077	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttctggtagcattgtagcTtttaatatagattttaatcg	10	18	8	5	1	1	1	0	0	1	1	2	1	1	1	0	1	2	5	0	1	6	10			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:36245077T>C	ENST00000400445.3	+	58	9324	c.8790T>C	c.(8788-8790)gcT>gcC	p.A2930A	NBEA_ENST00000310336.4_Silent_p.A2930A|NBEA_ENST00000379922.3_Silent_p.A508A|NBEA_ENST00000540320.1_Silent_p.A2930A|NBEA_ENST00000379939.2_Silent_p.A2927A|NBEA_ENST00000537702.1_Silent_p.A723A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2930					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCATTGTAGCTTTTAATATAG	0.378																																																	0													82	73	76					13																	36245077		1860	4113	5973	SO:0001819	synonymous_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8790T>C	13.37:g.36245077T>C			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A2930	ENST00000400445.3	37	c.8790	CCDS45026.1	13																																																																																			NBEA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000172915		0.378	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	36	0	T	NM_015678		36245077	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	57.14	3	4	SNP	1.000	C	C	36245077	T	C	36245077	2	2	1	1	0	0	0	0	0	0	0	1	10225	1596	56	4		4	NBEA	13	36245077	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09		36245077	78924801	294	294											
PCDH9	5101	genome.wustl.edu	37	chr13	66879019	66879019	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccattctttctggggtgcaAaggttgagagaggagatttg	9	12	14	6	0	2	3	0	1	2	2	2	5	2	3	1	4	1	2	1	4	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:66879019A>C	ENST00000377865.2	-	4	3616	c.3482T>G	c.(3481-3483)tTt>tGt	p.F1161C	PCDH9_ENST00000328454.5_Missense_Mutation_p.F1127C|PCDH9_ENST00000544246.1_Missense_Mutation_p.F1161C|PCDH9_ENST00000456367.1_Missense_Mutation_p.F1127C|PCDH9-AS1_ENST00000430861.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1161					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGGGGTGCAAAGGTTGAGAG	0.498																																																	0													158	133	141					13																	66879019		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3482T>G	13.37:g.66879019A>C	ENSP00000367096:p.Phe1161Cys		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F1161C	ENST00000377865.2	37	c.3482	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	A	15.01	2.707096	0.48412	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.75821	-0.95;-0.95;-0.97;-0.97	6.05	4.88	0.63580	.	0.314437	0.27856	N	0.017574	T	0.80964	0.4725	L	0.56199	1.76	0.40882	D	0.984008	D;D;D	0.65815	0.991;0.995;0.991	P;P;P	0.61940	0.79;0.896;0.79	T	0.82606	-0.0374	10	0.87932	D	0	.	12.0856	0.53695	0.9333:0.0:0.0667:0.0	.	1119;1127;1161	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	C	1161;1161;1127;1127	ENSP00000442186:F1161C;ENSP00000367096:F1161C;ENSP00000401699:F1127C;ENSP00000332060:F1127C	ENSP00000332060:F1127C	F	-	2	0	PCDH9	65777020	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.000000	0.76290	1.118000	0.41863	0.528000	0.53228	TTT	PCDH9	-	NULL	ENSG00000184226		0.498	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	54	0	A	NM_203487		66879019	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	C	C	66879019	A	C	66879019	3	2	1	1	0	0	0	0	1	0	0	0	11557	14	1	4	235	4	PCDH9	13	66879019	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	30633942	66879019	48290859	295	295											
PCCA	5095	genome.wustl.edu	37	chr13	100861648	100861648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcaagccatgggcgacaaGattgaaagcaaattattagc	16	9	9	7	1	1	2	1	1	0	1	1	3	1	2	1	1	3	1	1	1	6	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr13:100861648G>A	ENST00000376285.1	+	7	569	c.531G>A	c.(529-531)aaG>aaA	p.K177K	PCCA_ENST00000376279.3_Silent_p.K177K|PCCA_ENST00000376286.4_Silent_p.K151K	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	177	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGGGCGACAAGATTGAAAGCA	0.373																																																	0													145	136	140					13																	100861648		2203	4300	6503	SO:0001819	synonymous_variant	0			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.531G>A	13.37:g.100861648G>A			B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.K177	ENST00000376285.1	37	c.531	CCDS9496.2	13																																																																																			PCCA	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfscan_Biotin_carboxylation_dom	ENSG00000175198		0.373	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	-	0	65	0	G			100861648	1	tier1	-	no_errors	ENST00000376285	ensembl	human	known	74_37	silent	43.90	23	18	SNP	1.000	A	A	100861648	G	A	100861648	2	1	1	1	0	0	0	0	0	0	0	1	11543	933	33	3		3	PCCA	13	100861648	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	33982629	100861648	14308230	296	296											
NOVA1	4857	genome.wustl.edu	37	chr14	26917799	26917799	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactgctggaaaggctgcaAcgccagcaaggttagcatgt	13	7	12	9	1	0	0	0	0	0	0	0	1	0	1	1	3	6	6	1	3	5	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:26917799A>C	ENST00000539517.2	-	5	1207	c.890T>G	c.(889-891)gTt>gGt	p.V297G	NOVA1_ENST00000465357.2_Missense_Mutation_p.V273G|NOVA1_ENST00000267422.7_Missense_Mutation_p.V175G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	300	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAAGGCTGCAACGCCAGCAAG	0.478																																																	0													73	68	70					14																	26917799		2203	4300	6503	SO:0001583	missense	0			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.890T>G	14.37:g.26917799A>C	ENSP00000438875:p.Val297Gly		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.V297G	ENST00000539517.2	37	c.890	CCDS32061.1	14	.	.	.	.	.	.	.	.	.	.	A	13.65	2.299103	0.40694	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.34667	1.42;1.4;1.37;1.35	5.93	5.93	0.95920	.	0.079485	0.52532	D	0.000071	T	0.42017	0.1184	L	0.43152	1.355	0.80722	D	1	D;P;P	0.60575	0.988;0.629;0.844	P;B;P	0.52343	0.696;0.193;0.528	T	0.11991	-1.0565	10	0.15952	T	0.53	-17.9544	16.3756	0.83387	1.0:0.0:0.0:0.0	.	300;273;297	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	G	273;297;175;256	ENSP00000447391:V273G;ENSP00000438875:V297G;ENSP00000267422:V175G;ENSP00000408914:V256G	ENSP00000267422:V175G	V	-	2	0	NOVA1	25987639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.297000	0.96120	2.270000	0.75569	0.460000	0.39030	GTT	NOVA1	-	NULL	ENSG00000139910		0.478	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000073261.3	-	0	61	0	A	NM_006491		26917799	-1	tier1	-	no_errors	ENST00000539517	ensembl	human	known	74_37	missense	25.42	44	15	SNP	1.000	C	C	26917799	A	C	26917799	3	2	1	1	0	0	0	0	1	0	0	0	10593	43	2	4	637	4	NOVA1	14	26917799	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09		26917799	80431741	297	297											
PRKD1	5587	genome.wustl.edu	37	chr14	30100001	30100001	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgggaatgacgggcataAgggcatgctggatggctatc	9	9	15	8	1	0	1	0	1	0	0	1	3	0	3	1	5	1	4	1	5	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:30100001A>C	ENST00000331968.5	-	10	1848	c.1619T>G	c.(1618-1620)cTt>cGt	p.L540R	PRKD1_ENST00000415220.2_Missense_Mutation_p.L548R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	540	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACGGGCATAAGGGCATGCTG	0.537																																																	0													179	139	153					14																	30100001		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1619T>G	14.37:g.30100001A>C	ENSP00000333568:p.Leu540Arg		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L540R	ENST00000331968.5	37	c.1619	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	A	19.84	3.901886	0.72754	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000546371	T;T;T	0.29397	1.57;1.57;1.57	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000002	T	0.60676	0.2287	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.69206	-0.5206	10	0.87932	D	0	-18.8933	14.8411	0.70226	1.0:0.0:0.0:0.0	.	540	Q15139	KPCD1_HUMAN	R	540;548;121	ENSP00000333568:L540R;ENSP00000390535:L548R;ENSP00000447333:L121R	ENSP00000333568:L540R	L	-	2	0	PRKD1	29169752	1.000000	0.71417	0.993000	0.49108	0.618000	0.37518	9.199000	0.95003	1.968000	0.57251	0.533000	0.62120	CTT	PRKD1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184304		0.537	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0	57	0	A	NM_002742		30100001	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	C	C	30100001	A	C	30100001	3	2	1	1	0	0	0	0	1	0	0	0	12560	72	3	4	1155	4	PRKD1	14	30100001	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	3182202	30100001	77249539	298	298											
LRFN5	145581	genome.wustl.edu	37	chr14	42357119	42357119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaagctacatcatcaacgGcactacttaaatttaatttt	15	13	4	9	1	2	1	2	0	0	1	2	1	2	1	0	1	4	2	0	1	7	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:42357119G>C	ENST00000298119.4	+	3	2480	c.1291G>C	c.(1291-1293)Gca>Cca	p.A431P	LRFN5_ENST00000554120.1_Missense_Mutation_p.A431P|LRFN5_ENST00000554171.1_Missense_Mutation_p.A431P	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	431	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATCATCAACGGCACTACTTAA	0.353										HNSCC(30;0.082)																																							0													60	57	58					14																	42357119		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1291G>C	14.37:g.42357119G>C	ENSP00000298119:p.Ala431Pro		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A431P	ENST00000298119.4	37	c.1291	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312227	0.60414	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.69806	-0.43;0.51;0.51	5.4	5.4	0.78164	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000029	T	0.80778	0.4688	M	0.75085	2.285	0.53688	D	0.99997	P;D	0.55800	0.956;0.973	D;P	0.65573	0.936;0.836	T	0.80529	-0.1342	10	0.46703	T	0.11	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	431;431	G3V364;Q96NI6	.;LRFN5_HUMAN	P	431	ENSP00000298119:A431P;ENSP00000451897:A431P;ENSP00000451067:A431P	ENSP00000298119:A431P	A	+	1	0	LRFN5	41426869	1.000000	0.71417	0.967000	0.41034	0.924000	0.55760	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GCA	LRFN5	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165379		0.353	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	48	0	G	NM_152447		42357119	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.998	C	C	42357119	G	C	42357119	3	2	1	1	0	0	0	0	1	0	0	0	8976	1203	42	5	1293	5	LRFN5	14	42357119	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	12257118	42357119	64992421	299	299											
SDCCAG1	9147	genome.wustl.edu	37	chr14	50267199	50267199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatttaatgtctcttcccCttcatccttcatttcaccaa	10	17	1	13	0	4	0	3	0	1	0	7	0	6	0	4	0	0	0	4	0	3	7			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:50267199C>A	ENST00000298310.5	-	23	2760	c.2311G>T	c.(2311-2313)Ggg>Tgg	p.G771W	NEMF_ENST00000546046.1_Missense_Mutation_p.G750W|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Missense_Mutation_p.G729W			O60524	NEMF_HUMAN	nuclear export mediator factor	771					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTCTCTTCCCCTTCATCCTTC	0.353																																																	0													144	128	134					14																	50267199		2203	4300	6503	SO:0001583	missense	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2311G>T	14.37:g.50267199C>A	ENSP00000298310:p.Gly771Trp		A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.G771W	ENST00000298310.5	37	c.2311	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486582	0.44249	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.45276	0.92;0.91;0.9;0.9	5.37	3.35	0.38373	.	0.446922	0.23554	N	0.046935	T	0.40347	0.1113	N	0.22421	0.69	0.80722	D	1	P;P;P;P	0.51653	0.912;0.891;0.947;0.857	B;P;P;B	0.54856	0.35;0.588;0.762;0.191	T	0.33059	-0.9883	10	0.66056	D	0.02	-1.1336	9.9372	0.41559	0.1779:0.7383:0.0:0.0838	.	750;746;729;771	O60524-3;O60524-5;O60524-4;O60524	.;.;.;NEMF_HUMAN	W	771;729;750;543;729	ENSP00000298310:G771W;ENSP00000438309:G729W;ENSP00000441016:G750W;ENSP00000452540:G729W	ENSP00000298310:G771W	G	-	1	0	NEMF	49336949	0.905000	0.30787	0.996000	0.52242	0.928000	0.56348	2.305000	0.43664	1.286000	0.44565	0.460000	0.39030	GGG	NEMF	-	NULL	ENSG00000165525		0.353	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	-	0	70	0	C	NM_004713		50267199	-1	tier1	-	no_errors	ENST00000298310	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.958	A	A	50267199	C	A	50267199	3	1	1	1	0	0	0	0	1	0	0	0	14002	681	24	3	963	3	SDCCAG1	14	50267199	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7910080	50267199	57082341	300	300											
MAP4K5	11183	genome.wustl.edu	37	chr14	50941819	50941819	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggggtgccaatgaaagatTttcgttttgcaatggtagct	11	13	12	5	1	0	2	0	1	0	1	1	2	0	2	1	3	3	4	1	3	5	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:50941819T>G	ENST00000013125.4	-	9	836	c.518A>C	c.(517-519)aAa>aCa	p.K173T	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AATGAAAGATTTTCGTTTTGC	0.353																																																	0													114	112	113					14																	50941819		1843	4088	5931	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.518A>C	14.37:g.50941819T>G	ENSP00000013125:p.Lys173Thr		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.K173T	ENST00000013125.4	37	c.518		14	.	.	.	.	.	.	.	.	.	.	T	19.44	3.828869	0.71258	.	.	ENSG00000012983	ENST00000013125;ENST00000555216	T;T	0.77620	-0.08;-1.11	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.099910	0.64402	D	0.000002	T	0.79417	0.4442	N	0.16602	0.42	0.80722	D	1	D;D	0.89917	0.973;1.0	D;D	0.87578	0.926;0.998	T	0.82510	-0.0421	10	0.62326	D	0.03	.	14.2379	0.65938	0.0:0.0:0.0:1.0	.	173;173	B2R928;Q9Y4K4	.;M4K5_HUMAN	T	173;106	ENSP00000013125:K173T;ENSP00000452289:K106T	ENSP00000013125:K173T	K	-	2	0	MAP4K5	50011569	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.064000	0.71169	2.061000	0.61500	0.459000	0.35465	AAA	MAP4K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000012983		0.353	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0	63	0	T	NM_006575		50941819	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	G	G	50941819	T	G	50941819	3	3	1	1	0	0	0	0	1	0	0	0	9301	1841	64	4	2118	4	MAP4K5	14	50941819	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	674620	50941819	56407721	301	301											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72055443	72055443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaaccactcaagcgacGttcaaaatctgaaactggag	17	6	9	9	2	3	1	2	1	1	0	3	4	3	3	1	2	3	1	1	2	6	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:72055443G>C	ENST00000555818.1	+	2	1202	c.854G>C	c.(853-855)cGt>cCt	p.R285P	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R285P|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R285P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	285					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCAAGCGACGTTCAAAATCT	0.428																																																	0													68	73	71					14																	72055443		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.854G>C	14.37:g.72055443G>C	ENSP00000450832:p.Arg285Pro		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R285P	ENST00000555818.1	37	c.854	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993743	0.54041	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.46451	0.87;0.87;0.87	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	0.987;1.0;0.998	P;D;D	0.81914	0.82;0.995;0.992	T	0.59225	-0.7494	10	0.66056	D	0.02	-16.7012	20.6593	0.99626	0.0:0.0:1.0:0.0	.	285;285;285	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	P	285	ENSP00000370630:R285P;ENSP00000450832:R285P;ENSP00000351352:R285P	ENSP00000351352:R285P	R	+	2	0	SIPA1L1	71125196	1.000000	0.71417	0.353000	0.25747	0.298000	0.27526	9.624000	0.98398	2.885000	0.99019	0.655000	0.94253	CGT	SIPA1L1	-	NULL	ENSG00000197555		0.428	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0	27	0	G	NM_015556		72055443	1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	18.18	26	6	SNP	1.000	C	C	72055443	G	C	72055443	3	2	1	1	0	0	0	0	1	0	0	0	14374	1145	40	5	856	5	SIPA1L1	14	72055443	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	21113624	72055443	35294097	302	302											
RTL1	388015	genome.wustl.edu	37	chr14	101349575	101349575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcggcctttgatccaGtcgacttcgggggcgtggac	5	9	16	11	4	0	1	0	1	0	0	3	3	1	2	2	4	2	1	2	4	0	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:101349575G>A	ENST00000534062.1	-	1	1609	c.1551C>T	c.(1549-1551)gaC>gaT	p.D517D	MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	517					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTTGATCCAGTCGACTTCGG	0.602																																																	0													36	40	39					14																	101349575		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1551C>T	14.37:g.101349575G>A			E9PKS8	Silent	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.D517	ENST00000534062.1	37	c.1551	CCDS53910.1	14																																																																																			RTL1	-	superfamily_Peptidase_aspartic_dom	ENSG00000254656		0.602	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0	51	0	G	NM_001134888		101349575	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	silent	17.65	56	12	SNP	1.000	A	A	101349575	G	A	101349575	2	1	1	1	0	0	0	0	0	0	0	1	13769	1020	36	3		3	RTL1	14	101349575	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	29294132	101349575	5999965	303	303											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102467317	102467317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaatttggatgccctcctGaaccagctgaaaagcttccc	12	9	7	13	0	0	2	0	2	0	0	2	3	2	3	4	1	4	2	4	1	5	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr14:102467317G>A	ENST00000360184.4	+	19	4265	c.4101G>A	c.(4099-4101)ctG>ctA	p.L1367L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1367	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGCCCTCCTGAACCAGCTGA	0.418																																																	0													129	135	133					14																	102467317		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4101G>A	14.37:g.102467317G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L1367	ENST00000360184.4	37	c.4101	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-2	ENSG00000197102		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	69	0	G	NM_001376		102467317	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	30.00	56	24	SNP	1.000	A	A	102467317	G	A	102467317	2	1	1	1	0	0	0	0	0	0	0	1	4855	1277	45	3		3	DYNC1H1	14	102467317	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1117742	102467317	4882223	304	304											
MKRN3	7681	genome.wustl.edu	37	chr15	23812089	23812089	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggaagagaagcagaaacTtattcagcaatacaaggagg	18	5	13	5	0	1	2	1	0	0	2	1	6	1	5	0	4	4	2	0	4	7	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:23812089T>G	ENST00000314520.3	+	1	1636	c.1160T>G	c.(1159-1161)cTt>cGt	p.L387R	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.L147R	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	387					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAGCAGAAACTTATTCAGCAA	0.498																																																	0													98	98	98					15																	23812089		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1160T>G	15.37:g.23812089T>G	ENSP00000313881:p.Leu387Arg			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.L387R	ENST00000314520.3	37	c.1160	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839795	0.51057	.	.	ENSG00000179455	ENST00000314520	T	0.39787	1.06	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71600	-0.4544	10	0.87932	D	0	.	11.5517	0.50725	0.0:0.0:0.0:1.0	.	387	Q13064	MKRN3_HUMAN	R	387	ENSP00000313881:L387R	ENSP00000313881:L387R	L	+	2	0	MKRN3	21363182	1.000000	0.71417	0.576000	0.28549	0.428000	0.31595	7.306000	0.78905	2.049000	0.60858	0.533000	0.62120	CTT	MKRN3	-	NULL	ENSG00000179455		0.498	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0	27	0	T	NM_005664		23812089	1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.996	G	G	23812089	T	G	23812089	3	3	1	1	0	0	0	0	1	0	0	0	9646	1609	56	4	1162	4	MKRN3	15	23812089	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09		23812089	78719303	305	305											
C15orf2	23742	genome.wustl.edu	37	chr15	24921692	24921692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatgagtgagaaggcccaGgcgtctccagcgagctcctg	9	6	14	12	2	1	2	0	2	1	1	3	4	2	2	3	2	3	2	3	2	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:24921692G>C	ENST00000329468.2	+	1	1152	c.678G>C	c.(676-678)caG>caC	p.Q226H		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	226					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											AGAAGGCCCAGGCGTCTCCAG	0.607																																																	0													33	35	34					15																	24921692		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.678G>C	15.37:g.24921692G>C	ENSP00000333735:p.Gln226His			Missense_Mutation	SNP	NULL	p.Q226H	ENST00000329468.2	37	c.678	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	11.53	1.667495	0.29604	.	.	ENSG00000185823	ENST00000329468	T	0.14266	2.52	2.22	0.0811	0.14423	.	1.251110	0.06140	N	0.672156	T	0.22898	0.0553	L	0.39898	1.24	0.09310	N	1	D	0.64830	0.994	D	0.69479	0.964	T	0.17806	-1.0357	10	0.62326	D	0.03	.	2.5321	0.04705	0.1775:0.0:0.5355:0.287	.	226	Q9NZP6	CO002_HUMAN	H	226	ENSP00000333735:Q226H	ENSP00000333735:Q226H	Q	+	3	2	C15orf2	22472785	0.017000	0.18338	0.000000	0.03702	0.006000	0.05464	1.782000	0.38654	0.028000	0.15324	0.436000	0.28706	CAG	NPAP1	-	NULL	ENSG00000185823		0.607	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0	35	0	G	NM_018958		24921692	1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.000	C	C	24921692	G	C	24921692	3	2	1	1	0	0	0	0	1	0	0	0	1789	991	35	5	680	5	C15orf2	15	24921692	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1109603	24921692	77609700	306	306											
SNRPN	6638	genome.wustl.edu	37	chr15	25223032	25223032	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggacggggcactccgccCccacccgtcggcagagcaac	8	2	12	19	4	0	1	0	0	0	1	2	2	1	2	5	4	2	3	5	4	1	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:25223032C>A	ENST00000400100.1	+	11	1418	c.528C>A	c.(526-528)ccC>ccA	p.P176P	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Silent_p.P180P|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000577565.1_Silent_p.P176P|SNRPN_ENST00000400098.1_Silent_p.P176P|SNRPN_ENST00000390687.4_Silent_p.P176P|SNRPN_ENST00000346403.6_Silent_p.P176P|SNRPN_ENST00000400097.1_Silent_p.P176P|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000554227.2_Silent_p.P180P	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	176	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCACTCCGCCCCCACCCGTCG	0.567									Prader-Willi syndrome																																								0													27	29	29					15																	25223032		1931	4141	6072	SO:0001819	synonymous_variant	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.528C>A	15.37:g.25223032C>A			B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.P180	ENST00000400100.1	37	c.540	CCDS10017.1	15																																																																																			SNRPN	-	pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.567	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0	35	0	C	NM_003097		25223032	1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.144	A	A	25223032	C	A	25223032	2	1	1	1	0	0	0	0	0	0	0	1	14915	610	22	3		3	SNRPN	15	25223032	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	301340	25223032	77308360	307	307											
HERC2	8924	genome.wustl.edu	37	chr15	28493812	28493812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctttcacgactgtgttgctCaaagtccagacatgatgaaa	12	12	8	9	1	3	3	2	2	1	1	4	4	4	3	1	0	1	2	1	0	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:28493812C>G	ENST00000261609.7	-	21	3229	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTGTTGCTCAAAGTCCAGA	0.388																																																	0													96	87	90					15																	28493812		2203	4300	6503	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3121G>C	15.37:g.28493812C>G	ENSP00000261609:p.Glu1041Gln			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.E1041Q	ENST00000261609.7	37	c.3121	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898527	0.52227	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	L	0.40543	1.245	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.40590	-0.9555	10	0.18710	T	0.47	.	18.8404	0.92182	0.0:1.0:0.0:0.0	.	1041	O95714	HERC2_HUMAN	Q	1041	ENSP00000261609:E1041Q	ENSP00000261609:E1041Q	E	-	1	0	HERC2	26167407	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.432000	0.80349	2.524000	0.85096	0.467000	0.42956	GAG	HERC2	-	NULL	ENSG00000128731		0.388	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	42	0	C	NM_004667		28493812	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	G	G	28493812	C	G	28493812	3	3	1	1	0	0	0	0	1	0	0	0	7085	835	29	5	11675	5	HERC2	15	28493812	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	3270780	28493812	74037580	308	308											
CHRFAM7A	89832	genome.wustl.edu	37	chr15	30659629	30659629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaggaacgtacccacttggGcatcttgcccccgtcggggt	6	8	14	13	3	1	0	0	0	1	0	2	2	1	2	3	5	3	2	3	5	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:30659629G>T	ENST00000299847.2	-	9	1165	c.712C>A	c.(712-714)Ccc>Acc	p.P238T	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.P147T|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.P147T	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	238						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		ACCCACTTGGGCATCTTGCCC	0.582																																																	0													46	47	47					15																	30659629		2191	4280	6471	SO:0001583	missense	0			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.712C>A	15.37:g.30659629G>T	ENSP00000299847:p.Pro238Thr		A8KAB9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	p.P238T	ENST00000299847.2	37	c.712	CCDS32184.1	15	.	.	.	.	.	.	.	.	.	.	.	17.31	3.356640	0.61293	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	D;D;D	0.86497	-2.13;-2.13;-2.13	3.09	3.09	0.35607	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.048689	0.85682	D	0.000000	D	0.93478	0.7919	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94190	0.7440	10	0.87932	D	0	.	12.0452	0.53475	0.0:0.0:1.0:0.0	.	238	Q494W8	CRFM7_HUMAN	T	238;147;147	ENSP00000299847:P238T;ENSP00000380927:P147T;ENSP00000385389:P147T	ENSP00000299847:P238T	P	-	1	0	CHRFAM7A	28446921	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	9.105000	0.94246	1.461000	0.47929	0.184000	0.17185	CCC	CHRFAM7A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000166664		0.582	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRFAM7A	HGNC	protein_coding	OTTHUMT00000430700.1	-	0	41	0	G	NM_148911		30659629	-1	tier1	-	no_errors	ENST00000299847	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	30659629	G	T	30659629	3	4	1	1	0	0	0	0	1	0	0	0	3382	1203	42	3	534	3	CHRFAM7A	15	30659629	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2165817	30659629	71871763	309	309											
VPS18	57617	genome.wustl.edu	37	chr15	41195145	41195145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggagctgcggggccGctacggcactgtggagcccc	5	5	16	15	3	0	0	0	0	0	0	0	2	0	2	4	5	5	4	4	5	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:41195145G>A	ENST00000220509.5	+	5	2867	c.2528G>A	c.(2527-2529)cGc>cAc	p.R843H		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	843					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGCGGGGCCGCTACGGCACT	0.617																																																	0													95	93	94					15																	41195145		2203	4300	6503	SO:0001583	missense	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2528G>A	15.37:g.41195145G>A	ENSP00000220509:p.Arg843His		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.R843H	ENST00000220509.5	37	c.2528	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861999	0.91433	.	.	ENSG00000104142	ENST00000220509	T	0.54675	0.56	5.76	5.76	0.90799	.	0.168429	0.51477	D	0.000085	T	0.44871	0.1314	L	0.49126	1.545	0.80722	D	1	D	0.55172	0.97	B	0.42625	0.393	T	0.44757	-0.9307	10	0.44086	T	0.13	-32.8836	7.5399	0.27731	0.1954:0.0:0.8046:0.0	.	843	Q9P253	VPS18_HUMAN	H	843	ENSP00000220509:R843H	ENSP00000220509:R843H	R	+	2	0	VPS18	38982437	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.595000	0.82710	2.724000	0.93272	0.561000	0.74099	CGC	VPS18	-	NULL	ENSG00000104142		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	-	0	60	0	G			41195145	1	tier1	-	no_errors	ENST00000220509	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	41195145	G	A	41195145	3	1	1	1	0	0	0	0	1	0	0	0	17243	1087	38	1	2546	1	VPS18	15	41195145	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	10535516	41195145	61336247	310	310											
SEMA6D	80031	genome.wustl.edu	37	chr15	48054432	48054432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccacagtggctgacttcTtggccagcgatgccgttatt	6	12	11	12	2	1	1	0	1	1	0	1	2	1	1	3	2	3	2	3	2	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:48054432T>G	ENST00000316364.5	+	8	1013	c.574T>G	c.(574-576)Ttg>Gtg	p.L192V	SEMA6D_ENST00000389428.3_Missense_Mutation_p.L192V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L192V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.L192V|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L192V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L192V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L192V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L192V|SEMA6D_ENST00000558816.1_Missense_Mutation_p.L192V|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L192V|SEMA6D_ENST00000355997.3_Missense_Mutation_p.L192V|SEMA6D_ENST00000389425.3_Missense_Mutation_p.L192V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	192	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GGCTGACTTCTTGGCCAGCGA	0.418																																																	0													116	106	109					15																	48054432		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.574T>G	15.37:g.48054432T>G	ENSP00000324857:p.Leu192Val		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L192V	ENST00000316364.5	37	c.574	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	T	18.39	3.613170	0.66672	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79;2.79	6.17	-3.38	0.04883	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.125929	0.53938	D	0.000048	T	0.27134	0.0665	M	0.78801	2.425	0.43512	D	0.995775	P;B;B;P;P	0.38335	0.501;0.121;0.21;0.627;0.501	B;B;B;P;B	0.54706	0.251;0.11;0.185;0.759;0.251	T	0.25882	-1.0119	10	0.62326	D	0.03	.	16.2204	0.82255	0.0:0.7816:0.0:0.2184	.	192;192;192;192;192	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	V	192	ENSP00000442040:L192V;ENSP00000446152:L192V;ENSP00000324857:L192V;ENSP00000374084:L192V;ENSP00000374083:L192V;ENSP00000346786:L192V;ENSP00000350770:L192V;ENSP00000374079:L192V;ENSP00000348276:L192V;ENSP00000374076:L192V	ENSP00000324857:L192V	L	+	1	2	SEMA6D	45841724	0.990000	0.36364	0.979000	0.43373	0.998000	0.95712	0.303000	0.19210	-0.513000	0.06496	0.533000	0.62120	TTG	SEMA6D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000137872		0.418	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	44	0	T	NM_024966		48054432	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	65.79	13	25	SNP	1.000	G	G	48054432	T	G	48054432	3	3	1	1	0	0	0	0	1	0	0	0	14087	1606	56	4	600	4	SEMA6D	15	48054432	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	6859287	48054432	54476960	311	311											
FBN1	2200	genome.wustl.edu	37	chr15	48779552	48779552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagctgatggccaggcggGcattcacagcggtaacttcc	9	7	13	12	2	1	1	1	1	0	0	2	2	2	1	2	4	3	3	2	4	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:48779552G>A	ENST00000316623.5	-	28	3875	c.3420C>T	c.(3418-3420)tgC>tgT	p.C1140C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1140	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCCAGGCGGGCATTCACAGC	0.478																																																	0			GRCh37	CM074851	FBN1	M							130	126	127					15																	48779552		2198	4296	6494	SO:0001819	synonymous_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3420C>T	15.37:g.48779552G>A			B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C1140	ENST00000316623.5	37	c.3420	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.478	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	68	0	G			48779552	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.993	A	A	48779552	G	A	48779552	2	1	1	1	0	0	0	0	0	0	0	1	5724	1195	42	3		3	FBN1	15	48779552	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	725120	48779552	53751840	312	312											
UNC13C	440279	genome.wustl.edu	37	chr15	54685372	54685372	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcctacacacctgtcCtgaatcagtaagtacaatgt	14	10	6	11	0	1	1	1	1	0	0	2	1	2	1	3	0	4	2	3	0	6	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:54685372C>A	ENST00000260323.11	+	17	4840	c.4840C>A	c.(4840-4842)Ctg>Atg	p.L1614M	UNC13C_ENST00000537900.1_Missense_Mutation_p.L1612M|UNC13C_ENST00000545554.1_Missense_Mutation_p.L1614M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1614					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACACCTGTCCTGAATCAGTA	0.343																																																	0													70	66	68					15																	54685372		1823	4073	5896	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4840C>A	15.37:g.54685372C>A	ENSP00000260323:p.Leu1614Met		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1614M	ENST00000260323.11	37	c.4840	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879085	0.51801	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.82255	-1.58;-1.59;-1.58	5.4	2.52	0.30459	Calcium-dependent secretion activator (1);	0.354249	0.27375	N	0.019651	D	0.88078	0.6340	M	0.75615	2.305	0.33909	D	0.639504	D;D	0.71674	0.998;0.997	D;D	0.76575	0.988;0.939	D	0.88690	0.3208	10	0.66056	D	0.02	.	6.3823	0.21542	0.0:0.5815:0.0:0.4185	.	1614;1614	F5H090;Q8NB66	.;UN13C_HUMAN	M	1614;1614;1612	ENSP00000260323:L1614M;ENSP00000438156:L1614M;ENSP00000442569:L1612M	ENSP00000260323:L1614M	L	+	1	2	UNC13C	52472664	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.470000	0.35354	0.677000	0.31305	-0.145000	0.13849	CTG	UNC13C	-	pfam_Ca-dep_secretion_activator	ENSG00000137766		0.343	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	53	0	C	NM_173166		54685372	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	A	A	54685372	C	A	54685372	3	1	1	1	0	0	0	0	1	0	0	0	17035	680	24	3	4902	3	UNC13C	15	54685372	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	5905820	54685372	47846020	313	313											
ZNF280D	54816	genome.wustl.edu	37	chr15	56974614	56974614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagttgtgtttttatttactGtacttgaaaattctgtttta	9	23	6	3	0	1	1	0	1	1	0	1	1	1	1	0	0	2	4	0	0	7	12			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:56974614G>T	ENST00000267807.7	-	10	1058	c.842C>A	c.(841-843)aCa>aAa	p.T281K	ZNF280D_ENST00000559000.1_Missense_Mutation_p.T268K|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559237.1_Missense_Mutation_p.T268K	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTATTTACTGTACTTGAAAA	0.294																																																	0													65	65	65					15																	56974614		2190	4287	6477	SO:0001583	missense	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.842C>A	15.37:g.56974614G>T	ENSP00000267807:p.Thr281Lys		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T281K	ENST00000267807.7	37	c.842	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	G	3.215	-0.160871	0.06502	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000260435	T	0.02974	4.09	4.87	2.97	0.34412	.	1.994610	0.02782	N	0.120994	T	0.03220	0.0094	N	0.22421	0.69	0.80722	D	1	B;B	0.29936	0.262;0.262	B;B	0.32533	0.147;0.147	T	0.48875	-0.8996	10	0.09084	T	0.74	-2.2873	10.1612	0.42853	0.1638:0.0:0.8362:0.0	.	344;281	B4DHL1;Q6N043	.;Z280D_HUMAN	K	281;268;117	ENSP00000267807:T281K	ENSP00000260435:T117K	T	-	2	0	ZNF280D	54761906	1.000000	0.71417	0.967000	0.41034	0.938000	0.57974	6.107000	0.71517	0.558000	0.29135	0.484000	0.47621	ACA	ZNF280D	-	NULL	ENSG00000137871		0.294	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	-	0	39	0	G	XM_370867		56974614	-1	tier1	-	no_errors	ENST00000267807	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.856	T	T	56974614	G	T	56974614	3	4	1	1	0	0	0	0	1	0	0	0	17865	1377	48	3	2149	3	ZNF280D	15	56974614	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2289242	56974614	45556778	314	314											
GOLGA6B	55889	genome.wustl.edu	37	chr15	72953682	72953682	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgctgctgaacgcacaCgtgacacaggtgaggctttg	8	7	15	11	4	0	3	0	3	0	0	0	3	0	3	0	3	2	4	0	3	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:72953682C>T	ENST00000421285.3	+	8	642	c.642C>T	c.(640-642)caC>caT	p.H214H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	214						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TGAACGCACACGTGACACAGG	0.587																																																	0													36	45	42					15																	72953682		1403	2502	3905	SO:0001819	synonymous_variant	0				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.642C>T	15.37:g.72953682C>T			A8MYY7	Silent	SNP	NULL	p.H214	ENST00000421285.3	37	c.642	CCDS10245.2	15																																																																																			GOLGA6B	-	NULL	ENSG00000215186		0.587	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6B	HGNC	protein_coding	OTTHUMT00000257474.4	-	0	227	0	C	NM_018652		72953682	1	tier1	-	no_errors	ENST00000421285	ensembl	human	known	74_37	silent	5.60	219	13	SNP	0.706	T	T	72953682	C	T	72953682	2	4	1	1	0	0	0	0	0	0	0	1	6584	535	19	1		1	GOLGA6B	15	72953682	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	15979068	72953682	29577710	315	315											
NEO1	4756	genome.wustl.edu	37	chr15	73547143	73547143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgagaccttggtaagcGggacacagctgtctcagctg	9	9	12	11	1	2	1	2	1	1	1	3	3	2	2	1	2	3	3	1	2	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:73547143G>T	ENST00000339362.5	+	14	2512	c.2065G>T	c.(2065-2067)Ggg>Tgg	p.G689W	NEO1_ENST00000261908.6_Missense_Mutation_p.G689W|RP11-272D12.2_ENST00000560337.1_RNA|NEO1_ENST00000558964.1_Missense_Mutation_p.G689W|NEO1_ENST00000560262.1_Missense_Mutation_p.G689W			Q92859	NEO1_HUMAN	neogenin 1	689	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTTGGTAAGCGGGACACAGCT	0.483																																																	0													119	111	114					15																	73547143		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2065G>T	15.37:g.73547143G>T	ENSP00000341198:p.Gly689Trp		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G689W	ENST00000339362.5	37	c.2065	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	g	26.7	4.761240	0.89932	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.59364	0.27;0.27	5.23	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.098604	0.64402	D	0.000001	D	0.83335	0.5232	H	0.94847	3.59	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.96;1.0	D;D;D;D	0.97110	0.996;1.0;0.994;0.998	D	0.88007	0.2760	10	0.66056	D	0.02	-6.2985	18.8282	0.92127	0.0:0.0:1.0:0.0	.	689;689;427;689	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	W	689;427;689	ENSP00000341198:G689W;ENSP00000261908:G689W	ENSP00000261908:G689W	G	+	1	0	NEO1	71334196	1.000000	0.71417	0.487000	0.27428	0.989000	0.77384	7.865000	0.87049	2.438000	0.82558	0.655000	0.94253	GGG	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000067141		0.483	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0	46	0	G	NM_002499		73547143	1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.999	T	T	73547143	G	T	73547143	3	4	1	1	0	0	0	0	1	0	0	0	10375	1116	39	2	2115	2	NEO1	15	73547143	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	593461	73547143	28984249	316	316											
STOML1	9399	genome.wustl.edu	37	chr15	74281474	74281474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggagggacgttgaaggctCgtgtcctcagatccaccctc	8	8	13	12	2	1	2	1	1	0	1	5	4	3	4	3	3	0	2	3	3	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:74281474C>T	ENST00000316900.5	-	3	489	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	STOML1_ENST00000541638.1_Missense_Mutation_p.R80Q|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000359750.4_Missense_Mutation_p.R122Q|STOML1_ENST00000561656.1_Missense_Mutation_p.R35Q|STOML1_ENST00000316911.6_Intron	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	122						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GTTGAAGGCTCGTGTCCTCAG	0.602																																																	0													60	55	57					15																	74281474		2198	4297	6495	SO:0001583	missense	0			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.365G>A	15.37:g.74281474C>T	ENSP00000319323:p.Arg122Gln		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.R122Q	ENST00000316900.5	37	c.365	CCDS10254.1	15	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822847	0.50739	.	.	ENSG00000067221	ENST00000316900;ENST00000541638;ENST00000359750	D;D;D	0.93426	-3.22;-3.22;-3.22	4.97	4.97	0.65823	.	0.055837	0.64402	D	0.000004	D	0.93638	0.7968	L	0.33293	1	0.48087	D	0.999585	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.986;0.969;0.989;0.989	D	0.93359	0.6725	10	0.56958	D	0.05	-2.2598	10.4688	0.44624	0.0:0.9101:0.0:0.0899	.	80;122;122;122	B4DUU5;E7ESC0;Q53HB6;Q9UBI4	.;.;.;STML1_HUMAN	Q	122;80;122	ENSP00000319323:R122Q;ENSP00000442478:R80Q;ENSP00000352788:R122Q	ENSP00000319323:R122Q	R	-	2	0	STOML1	72068527	1.000000	0.71417	0.675000	0.29917	0.002000	0.02628	5.544000	0.67231	2.287000	0.76781	0.467000	0.42956	CGA	STOML1	-	pfam_Band_7,smart_Band_7	ENSG00000067221		0.602	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1		0	27	0	C	NM_004809		74281474	-1			no_errors	ENST00000316900	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.962	T	T	74281474	C	T	74281474	3	4	1	1	0	0	0	0	1	0	0	0	15360	884	31	1	851	1	STOML1	15	74281474	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	734331	74281474	28249918	317	317											
GOLGA6C	653641	genome.wustl.edu	37	chr15	75558543	75558543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtggaaggtctggaGggaaagctccagtcccaggt	10	6	17	8	0	1	0	0	0	1	0	3	4	3	4	2	7	1	1	2	7	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:75558543G>T	ENST00000300576.5	+	11	945	c.945G>T	c.(943-945)gaG>gaT	p.E315D	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	315						Golgi apparatus (GO:0005794)				ovary(1)	1						AAGGTCTGGAGGGAAAGCTCC	0.577																																																	0													1	1	1					15																	75558543		315	746	1061	SO:0001583	missense	0				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.945G>T	15.37:g.75558543G>T	ENSP00000300576:p.Glu315Asp			Missense_Mutation	SNP	NULL	p.E315D	ENST00000300576.5	37	c.945	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524793	0.27299	.	.	ENSG00000167195	ENST00000300576	T	0.22539	1.95	.	.	.	.	.	.	.	.	T	0.32194	0.0821	M	0.65498	2.005	0.18873	N	0.999985	P	0.49696	0.927	P	0.56563	0.801	T	0.12243	-1.0555	8	0.40728	T	0.16	.	5.9503	0.19242	6.0E-4:0.0:0.9994:0.0	.	315	A6NDK9	GOG6C_HUMAN	D	315	ENSP00000300576:E315D	ENSP00000300576:E315D	E	+	3	2	GOLGA6C	73345596	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-1.638000	0.02013	0.159000	0.19401	0.162000	0.16502	GAG	GOLGA6C	-	NULL	ENSG00000167195		0.577	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	-	0	22	0	G	NM_001164404		75558543	1	tier1	-	no_errors	ENST00000300576	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.993	T	T	75558543	G	T	75558543	3	4	1	1	0	0	0	0	1	0	0	0	6585	991	35	3	987	3	GOLGA6C	15	75558543	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1277069	75558543	26972849	318	318											
AP3B2	8120	genome.wustl.edu	37	chr15	83349264	83349264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcgccttggcgatgaCgcccacttccgccttgggcg	5	7	12	17	5	0	1	0	1	0	0	1	2	1	1	5	2	1	0	5	2	0	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:83349264C>T	ENST00000261722.3	-	8	1222	c.1015G>A	c.(1015-1017)Gtc>Atc	p.V339I	AP3B2_ENST00000535348.1_Missense_Mutation_p.V307I|AP3B2_ENST00000535359.1_Missense_Mutation_p.V339I|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	339				APKAEVGVIAKALVR -> GPRRKWRHRQGAGA (in Ref. 1; AAC50219). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TTGGCGATGACGCCCACTTCC	0.746																																																	0													2	3	3					15																	83349264		1512	3408	4920	SO:0001583	missense	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.1015G>A	15.37:g.83349264C>T	ENSP00000261722:p.Val339Ile		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.V339I	ENST00000261722.3	37	c.1015	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221353	0.22457	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.25912	1.77;1.77;1.77	4.65	3.74	0.42951	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.05914	0.0154	N	0.00611	-1.325	0.80722	D	1	B;B;B	0.28971	0.202;0.229;0.125	B;B;B	0.25140	0.027;0.058;0.058	T	0.29822	-0.9999	10	0.05436	T	0.98	-38.147	9.3291	0.38010	0.1433:0.7793:0.0:0.0774	.	307;339;339	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	I	339;307;339	ENSP00000261722:V339I;ENSP00000438721:V307I;ENSP00000440984:V339I	ENSP00000261722:V339I	V	-	1	0	AP3B2	81146318	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.706000	0.61845	1.175000	0.42826	0.561000	0.74099	GTC	AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000103723		0.746	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0	9	0	C			83349264	-1			no_errors	ENST00000261722	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	T	T	83349264	C	T	83349264	3	4	1	1	0	0	0	0	1	0	0	0	745	536	19	1	2233	1	AP3B2	15	83349264	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7790721	83349264	19182128	319	319											
SH3GL3	6457	genome.wustl.edu	37	chr15	84245418	84245418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagataccagacgaagaagtCagacaagcggtagaaaaatt	20	5	10	6	2	1	5	1	0	0	5	1	6	1	5	1	1	2	1	1	1	8	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:84245418C>T	ENST00000427482.2	+	6	855	c.549C>T	c.(547-549)gtC>gtT	p.V183V	SH3GL3_ENST00000535412.1_Silent_p.V183V|SH3GL3_ENST00000434347.1_Silent_p.V191V|SH3GL3_ENST00000324537.5_Silent_p.V191V	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	183	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACGAAGAAGTCAGACAAGCGG	0.373																																																	0													58	61	60					15																	84245418		2203	4300	6503	SO:0001819	synonymous_variant	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.549C>T	15.37:g.84245418C>T			O43553|O43554	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain	p.V191	ENST00000427482.2	37	c.573	CCDS10325.2	15																																																																																			SH3GL3	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000140600		0.373	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	HGNC	protein_coding	OTTHUMT00000347797.1	-	0	57	0	C	NM_003027		84245418	1	tier1	-	no_errors	ENST00000324537	ensembl	human	known	74_37	silent	42.37	33	25	SNP	1.000	T	T	84245418	C	T	84245418	2	4	1	1	0	0	0	0	0	0	0	1	14297	813	29	3		3	SH3GL3	15	84245418	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	896154	84245418	18285974	320	320											
PLIN1	5346	genome.wustl.edu	37	chr15	90208853	90208853	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtaatgcgtgcggccCaggatgggctccatgacgct	6	9	15	11	3	0	1	0	1	0	0	1	2	1	2	2	4	2	4	2	4	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr15:90208853C>G	ENST00000300055.5	-	9	1695	c.1530G>C	c.(1528-1530)ctG>ctC	p.L510L	PLIN1_ENST00000430628.2_Silent_p.L510L	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	510				L -> V (in Ref. 1; BAA25420). {ECO:0000305}.	lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GCGTGCGGCCCAGGATGGGCT	0.692																																																	0													3	2	2					15																	90208853		1538	3008	4546	SO:0001819	synonymous_variant	0			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"Perilipins"	9076	protein-coding gene	gene with protein product		170290	"perilipin"	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1530G>C	15.37:g.90208853C>G			Q8N5Y6	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.L510	ENST00000300055.5	37	c.1530	CCDS10353.1	15																																																																																			PLIN1	-	NULL	ENSG00000166819		0.692	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN1	HGNC	protein_coding	OTTHUMT00000313424.2	-	0	9	0	C	NM_002666		90208853	-1	tier1	-	no_errors	ENST00000300055	ensembl	human	known	74_37	silent	68.42	6	13	SNP	1.000	G	G	90208853	C	G	90208853	2	3	1	1	0	0	0	0	0	0	0	1	12128	581	21	5		5	PLIN1	15	90208853	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	5963435	90208853	12322539	321	321											
TPSG1	8912	genome.wustl.edu	37	chr16	1272740	1272740	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgggaggcagacgggcagGatccggctggagagggtcac	8	4	19	10	3	1	2	1	0	0	2	3	5	3	4	2	7	0	3	2	7	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:1272740G>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Silent_p.I141I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGACGGGCAGGATCCGGCTGG	0.692																																																	0													43	49	47					16																	1272740		2199	4300	6499	SO:0001628	intergenic_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1272740G>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I141	ENST00000348261.5	37	c.423	CCDS45375.1	16																																																																																			TPSG1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000116176		0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	68	0	G	NM_001005407		1272740	-1	tier1	-	no_errors	ENST00000234798	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.316	T	T	1272740	G	T	1272740	1	4	1	0	1	0	0	0	0	0	0	0	16474	1164	41	3		3	TPSG1	16	1272740	IGR	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		1272740	89082013	322	322											
SRRM2	23524	genome.wustl.edu	37	chr16	2813939	2813939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctcctgagcagagcaGgttccagtctgactcttctt	8	13	9	11	0	4	3	0	2	4	1	6	3	5	3	2	1	2	3	2	1	1	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:2813939G>A	ENST00000301740.8	+	11	3959	c.3410G>A	c.(3409-3411)aGg>aAg	p.R1137K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1137	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R1137M(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCAGAGCAGGTTCCAGTCT	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											86	90	89					16																	2813939		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3410G>A	16.37:g.2813939G>A	ENSP00000301740:p.Arg1137Lys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1137K	ENST00000301740.8	37	c.3410	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	3.165	-0.171162	0.06421	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	D	0.92397	-3.03	5.71	2.52	0.30459	.	0.323721	0.30649	N	0.009179	T	0.77465	0.4134	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60490	-0.7253	10	0.06236	T	0.91	-0.9172	1.8531	0.03173	0.1863:0.1578:0.4935:0.1623	.	1137	Q9UQ35	SRRM2_HUMAN	K	1137;1137;389	ENSP00000301740:R1137K	ENSP00000301740:R1137K	R	+	2	0	SRRM2	2753940	0.477000	0.25909	0.300000	0.25030	0.949000	0.60115	0.427000	0.21379	0.265000	0.21872	0.655000	0.94253	AGG	SRRM2	-	NULL	ENSG00000167978		0.463	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	22	0	G			2813939	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.283	A	A	2813939	G	A	2813939	3	1	1	1	0	0	0	0	1	0	0	0	15216	1000	35	3	3448	3	SRRM2	16	2813939	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1541199	2813939	87540814	323	323											
ANKS3	124401	genome.wustl.edu	37	chr16	4747105	4747105	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactaagcacagtgcttgcCctgaggaatgatgaccttga	11	10	10	10	0	1	4	1	4	0	0	1	5	1	5	2	1	3	2	2	1	2	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:4747105C>T	ENST00000304283.4	-	17	2189	c.1895G>A	c.(1894-1896)gGg>gAg	p.G632E	ANKS3_ENST00000446014.2_Splice_Site_p.G503E|ANKS3_ENST00000585773.1_Splice_Site_p.G559E	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	632										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CAGTGCTTGCCCTGAGGAATG	0.652																																																	0													73	59	64					16																	4747105		2197	4299	6496	SO:0001630	splice_region_variant	0			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1895-1G>A	16.37:g.4747105C>T			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G632E	ENST00000304283.4	37	c.1895	CCDS10520.1	16	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519735	0.85495	.	.	ENSG00000168096	ENST00000304283;ENST00000446014	T;T	0.38722	1.12;2.84	5.49	4.54	0.55810	.	0.060382	0.64402	D	0.000006	T	0.63838	0.2545	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68432	-0.5410	10	0.87932	D	0	.	13.4857	0.61364	0.0:0.9248:0.0:0.0752	.	632	Q6ZW76	ANKS3_HUMAN	E	632;503	ENSP00000304586:G632E;ENSP00000406796:G503E	ENSP00000304586:G632E	G	-	2	0	ANKS3	4687106	0.979000	0.34478	0.979000	0.43373	0.181000	0.23173	2.531000	0.45650	1.316000	0.45131	0.655000	0.94253	GGG	ANKS3	-	NULL	ENSG00000168096		0.652	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0	64	0	C	NM_133450	Missense_Mutation	4747105	-1	tier1	-	no_errors	ENST00000304283	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.997	T	T	4747105	C	T	4747105	5	4	1	1	0	0	0	0	0	0	1	0	690	637	22	3	79	3	ANKS3	16	4747105	Splice_Site	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1933166	4747105	85607648	324	324											
CIITA	4261	genome.wustl.edu	37	chr16	11000762	11000762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaggatctgctcttctcCctgggcccacagccactcgt	5	10	9	17	1	3	0	0	0	3	0	5	1	3	1	3	2	3	2	3	2	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:11000762C>T	ENST00000324288.8	+	11	1546	c.1413C>T	c.(1411-1413)tcC>tcT	p.S471S	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	471	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCTCTTCTCCCTGGGCCCAC	0.602			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													66	66	66					16																	11000762		2197	4300	6497	SO:0001819	synonymous_variant	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.1413C>T	16.37:g.11000762C>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.S471	ENST00000324288.8	37	c.1413	CCDS10544.1	16																																																																																			CIITA	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000179583		0.602	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	-	0	35	0	C	NM_000246		11000762	1	tier1	-	no_errors	ENST00000324288	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.001	T	T	11000762	C	T	11000762	2	4	1	1	0	0	0	0	0	0	0	1	3435	610	22	3		3	CIITA	16	11000762	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6253657	11000762	79353991	325	325											
PDILT	204474	genome.wustl.edu	37	chr16	20371903	20371903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttacctcatcctcatccTcaatcttagttttgatgtgg	7	16	5	13	0	4	1	3	1	1	0	6	1	6	1	4	1	1	1	4	1	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:20371903T>C	ENST00000302451.4	-	11	1741	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	498					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.E498G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATCCTCATCCTCAATCTTAGT	0.453																																																	1	Substitution - Missense(1)	lung(1)											243	219	227					16																	20371903		2203	4300	6503	SO:0001583	missense	0				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"Protein disulfide isomerases"	27338	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 7", "protein disulfide isomerase-like protein of the testis"					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1493A>G	16.37:g.20371903T>C	ENSP00000305465:p.Glu498Gly		Q8IVQ5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E498G	ENST00000302451.4	37	c.1493	CCDS10584.1	16	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630420	0.46944	.	.	ENSG00000169340	ENST00000302451	T	0.15603	2.41	4.58	3.45	0.39498	Thioredoxin-like fold (1);	0.464041	0.23865	N	0.043803	T	0.23806	0.0576	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.03503	-1.1030	10	0.35671	T	0.21	.	7.5045	0.27536	0.1907:0.0:0.0:0.8093	.	498	Q8N807	PDILT_HUMAN	G	498	ENSP00000305465:E498G	ENSP00000305465:E498G	E	-	2	0	PDILT	20279404	0.053000	0.20554	0.013000	0.15412	0.415000	0.31203	2.050000	0.41297	1.033000	0.39918	0.528000	0.53228	GAG	PDILT	-	superfamily_Thioredoxin-like_fold	ENSG00000169340		0.453	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	-	0	55	0	T	NM_174924		20371903	-1	tier1	-	no_errors	ENST00000302451	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.016	C	C	20371903	T	C	20371903	3	2	1	1	0	0	0	0	1	0	0	0	11713	1551	54	4	269	4	PDILT	16	20371903	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	9371141	20371903	69982850	326	326											
SRCAP	10847	genome.wustl.edu	37	chr16	30731618	30731618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctactgctcctgaccccccaCcccggcccaagccagtcaag	8	5	7	21	1	1	1	1	1	0	0	2	1	2	1	8	1	3	1	8	1	3	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:30731618C>T	ENST00000262518.4	+	19	3338	c.2953C>T	c.(2953-2955)Ccc>Tcc	p.P985S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P985S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P985S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	985	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGACCCCCCACCCCGGCCCAA	0.577																																																	0													89	99	96					16																	30731618		2197	4300	6497	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2953C>T	16.37:g.30731618C>T	ENSP00000262518:p.Pro985Ser		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P985S	ENST00000262518.4	37	c.2953	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149389	0.78001	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92647	-3.08;-2.91;-2.81	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000118	D	0.95178	0.8437	L	0.58101	1.795	0.49582	D	0.999803	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.94836	0.8000	10	0.49607	T	0.09	-11.4183	18.0431	0.89324	0.0:1.0:0.0:0.0	.	985;985;985	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	S	985	ENSP00000262518:P985S;ENSP00000378499:P985S;ENSP00000343042:P985S	ENSP00000262518:P985S	P	+	1	0	SRCAP	30639119	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.206000	0.77891	2.550000	0.86006	0.585000	0.79938	CCC	SRCAP	-	NULL	ENSG00000080603		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0	44	0	C	NM_006662		30731618	1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T	T	30731618	C	T	30731618	3	4	1	1	0	0	0	0	1	0	0	0	15182	507	18	3	3019	3	SRCAP	16	30731618	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	10359715	30731618	59623135	327	327											
NOD2	64127	genome.wustl.edu	37	chr16	50745331	50745331	+	Frame_Shift_Del	DEL	G	G	-																															caggaactgttgctgcaggaGggggggtccccaaagaccac																								rs104895434		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:50745331delG	ENST00000300589.2	+	4	1614	c.1509delG	c.(1507-1509)gagfs	p.E503fs	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	503	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGCTGCAGGAGGGGGGGTCCC	0.577																																																	0										5,4259		0,5,2127	63	65	64			0.5	0	16		64	7,8245		0,7,4119	no	frameshift	NOD2	NM_022162.1		0,12,6246	A1A1,A1R,RR		0.0848,0.1173,0.0959			50745331	12,12504	2198	4300	6498	SO:0001589	frameshift_variant	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1509delG	16.37:g.50745331delG	ENSP00000300589:p.Glu503fs		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Frame_Shift_Del	DEL	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.S506fs	ENST00000300589.2	37	c.1509	CCDS10746.1	16																																																																																			NOD2	-	NULL	ENSG00000167207		0.577	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2		0	16	0	G	NM_022162		50745331	1	tier1		no_errors	ENST00000300589	ensembl	human	known	74_37	frame_shift_del	27.27	8	3	DEL	0.001	-	-	50745331	G	-	50745331	7	5	1	1	0	1	0	1	0	0	0	0	10556	991	35	0	1523	0	NOD2	16	50745331	Frame_Shift_Del	DEL	G	TCGA-2H-A9GF-01A-11D-A37C-09	20013713	50745331	39609422	328	328											
CHD9	80205	genome.wustl.edu	37	chr16	53272290	53272290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagatgaaatgggtcttgGcaaaactattcaatcaatta	16	11	8	6	0	3	2	2	1	1	1	3	2	3	2	0	2	2	2	0	2	7	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:53272290G>A	ENST00000398510.3	+	11	2756	c.2669G>A	c.(2668-2670)gGc>gAc	p.G890D	CHD9_ENST00000447540.1_Missense_Mutation_p.G890D|CHD9_ENST00000564845.1_Missense_Mutation_p.G890D|CHD9_ENST00000566029.1_Missense_Mutation_p.G890D			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	890	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGGGTCTTGGCAAAACTATT	0.333																																																	0													82	76	78					16																	53272290		1830	4083	5913	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2669G>A	16.37:g.53272290G>A	ENSP00000381522:p.Gly890Asp		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G890D	ENST00000398510.3	37	c.2669		16	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928182	0.92389	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.99940	-8.38;-8.38	5.18	5.18	0.71444	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000012	D	0.99964	0.9986	H	0.99874	4.875	0.80722	D	1	D;D;D;D	0.89917	0.994;0.999;1.0;1.0	D;D;D;D	0.97110	0.989;0.991;1.0;0.999	D	0.96285	0.9209	10	0.87932	D	0	-7.4671	18.7082	0.91646	0.0:0.0:1.0:0.0	.	416;890;890;890	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	D	890;890;416	ENSP00000396345:G890D;ENSP00000381522:G890D	ENSP00000219084:G416D	G	+	2	0	CHD9	51829791	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.807000	0.99171	2.420000	0.82092	0.585000	0.79938	GGC	CHD9	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000177200		0.333	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	-	0	58	0	G	NM_025134		53272290	1	tier1	-	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A	A	53272290	G	A	53272290	3	1	1	1	0	0	0	0	1	0	0	0	3339	1203	42	3	2711	3	CHD9	16	53272290	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2526959	53272290	37082463	329	329											
CENPT	80152	genome.wustl.edu	37	chr16	67866432	67866432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggggaagccgtttcaaGcagggctctccgggctctgt	5	9	15	12	2	3	0	1	0	2	0	4	1	3	1	3	4	2	4	3	4	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:67866432G>A	ENST00000562787.1	-	5	675	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000564817.1_Missense_Mutation_p.L43F|CENPT_ENST00000219172.3_Missense_Mutation_p.L43F|CENPT_ENST00000440851.2_Missense_Mutation_p.L43F|CENPT_ENST00000445712.2_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	43					chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCCGTTTCAAGCAGGGCTCTC	0.547																																																	0													58	61	60					16																	67866432		1946	4120	6066	SO:0001583	missense	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.127C>T	16.37:g.67866432G>A	ENSP00000457810:p.Leu43Phe		Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	superfamily_Histone-fold	p.L43F	ENST00000562787.1	37	c.127	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321860	0.41096	.	.	ENSG00000102901	ENST00000440851;ENST00000219172	T;T	0.51574	0.7;0.7	4.41	2.45	0.29901	.	0.644635	0.14396	N	0.322223	T	0.45337	0.1337	M	0.68317	2.08	0.09310	N	0.999991	P;P	0.44044	0.825;0.825	B;B	0.43103	0.408;0.289	T	0.33189	-0.9878	10	0.46703	T	0.11	-1.4467	6.1785	0.20457	0.2276:0.0:0.7724:0.0	.	43;43	Q96BT3;B3KPB2	CENPT_HUMAN;.	F	43	ENSP00000400140:L43F;ENSP00000219172:L43F	ENSP00000219172:L43F	L	-	1	0	CENPT	66423933	0.152000	0.22762	0.007000	0.13788	0.323000	0.28346	0.611000	0.24268	0.788000	0.33755	0.655000	0.94253	CTT	CENPT	-	NULL	ENSG00000102901		0.547	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1	-	0	54	0	G	NM_025082		67866432	-1	tier1	-	no_errors	ENST00000219172	ensembl	human	known	74_37	missense	48.89	23	22	SNP	0.010	A	A	67866432	G	A	67866432	3	1	1	1	0	0	0	0	1	0	0	0	3249	971	34	3	1606	3	CENPT	16	67866432	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	14594142	67866432	22488321	330	330											
PSKH1	5681	genome.wustl.edu	37	chr16	67961376	67961376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccatgaagaacctgcaccGctccatatcccagaacctcc	12	7	5	17	1	0	3	0	1	0	2	4	3	4	3	7	0	3	2	7	0	4	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:67961376G>T	ENST00000291041.5	+	3	1276	c.1106G>T	c.(1105-1107)cGc>cTc	p.R369L		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	369						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AACCTGCACCGCTCCATATCC	0.607																																																	0													99	86	91					16																	67961376		2198	4300	6498	SO:0001583	missense	0			M14504	CCDS10851.1	16q22.1	2008-02-05			ENSG00000159792	ENSG00000159792			9529	protein-coding gene	gene with protein product		177015				8268911	Standard	NM_006742		Approved		uc002euv.3	P11801	OTTHUMG00000137548	ENST00000291041.5:c.1106G>T	16.37:g.67961376G>T	ENSP00000291041:p.Arg369Leu		Q9NY19	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R369L	ENST00000291041.5	37	c.1106	CCDS10851.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.428751	0.96131	.	.	ENSG00000159792	ENST00000291041	T	0.37915	1.17	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47948	0.1473	M	0.70275	2.135	0.80722	D	1	P	0.46621	0.881	P	0.46685	0.524	T	0.48843	-0.8999	10	0.44086	T	0.13	-11.2996	18.688	0.91573	0.0:0.0:1.0:0.0	.	369	P11801	KPSH1_HUMAN	L	369	ENSP00000291041:R369L	ENSP00000291041:R369L	R	+	2	0	PSKH1	66518877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.578000	0.87016	0.655000	0.94253	CGC	PSKH1	-	superfamily_Kinase-like_dom	ENSG00000159792		0.607	PSKH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH1	HGNC	protein_coding	OTTHUMT00000268882.3	-	0	53	0	G	NM_006742		67961376	1	tier1	-	no_errors	ENST00000291041	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	67961376	G	T	67961376	3	4	1	1	0	0	0	0	1	0	0	0	12706	1087	38	2	1112	2	PSKH1	16	67961376	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	94944	67961376	22393377	331	331											
DPEP3	64180	genome.wustl.edu	37	chr16	68014007	68014007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacatacccgtccacgaGtgggaaactccgcatcaggg	11	6	10	14	3	1	0	1	0	0	0	3	2	3	1	4	2	3	1	4	2	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:68014007G>A	ENST00000268793.4	-	1	725	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	93					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCGTCCACGAGTGGGAAACTC	0.632																																																	0													46	44	45					16																	68014007		2198	4300	6498	SO:0001583	missense	0			AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.352C>T	16.37:g.68014007G>A	ENSP00000268793:p.Leu118Phe		B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	pfam_Peptidase_M19	p.L118F	ENST00000268793.4	37	c.352	CCDS10856.1	16	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113624	0.56398	.	.	ENSG00000141096	ENST00000268793	T	0.24350	1.86	3.96	3.01	0.34805	.	0.091048	0.42172	D	0.000744	T	0.43942	0.1270	M	0.85542	2.76	0.20196	N	0.999925	P	0.51057	0.941	P	0.55391	0.775	T	0.32402	-0.9908	10	0.72032	D	0.01	.	7.6635	0.28417	0.1169:0.0:0.8831:0.0	.	93	Q9H4B8	DPEP3_HUMAN	F	118	ENSP00000268793:L118F	ENSP00000268793:L118F	L	-	1	0	DPEP3	66571508	0.163000	0.22920	0.039000	0.18376	0.006000	0.05464	1.186000	0.32078	1.033000	0.39918	-0.258000	0.10820	CTC	DPEP3	-	pfam_Peptidase_M19	ENSG00000141096		0.632	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPEP3	HGNC	protein_coding	OTTHUMT00000268875.3	-	0	85	0	G	NM_022357		68014007	-1	tier1	-	no_errors	ENST00000268793	ensembl	human	known	74_37	missense	29.27	58	24	SNP	0.038	A	A	68014007	G	A	68014007	3	1	1	1	0	0	0	0	1	0	0	0	4729	1029	36	3	1229	3	DPEP3	16	68014007	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	52631	68014007	22340746	332	332											
AP1G1	164	genome.wustl.edu	37	chr16	71790060	71790060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaactcaattccattgcaCgccttgcagaagggaaaaat	16	8	7	10	1	1	1	1	0	0	1	2	2	2	2	2	1	3	2	2	1	6	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:71790060C>G	ENST00000299980.4	-	12	1532	c.1091G>C	c.(1090-1092)cGt>cCt	p.R364P	SNORD71_ENST00000411292.1_RNA|AP1G1_ENST00000393512.3_Missense_Mutation_p.R367P|AP1G1_ENST00000423132.2_Missense_Mutation_p.R367P|AP1G1_ENST00000433195.2_Missense_Mutation_p.R387P|AP1G1_ENST00000569748.1_Missense_Mutation_p.R364P	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	364					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTCCATTGCACGCCTTGCAGA	0.373																																																	0													51	52	51					16																	71790060		2198	4300	6498	SO:0001583	missense	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1091G>C	16.37:g.71790060C>G	ENSP00000299980:p.Arg364Pro		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.R387P	ENST00000299980.4	37	c.1160	CCDS32480.1	16	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839704	0.91117	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.25	5.25	0.73442	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.993	T	0.82289	-0.0531	10	0.87932	D	0	-8.2758	18.8517	0.92235	0.0:1.0:0.0:0.0	.	364;387;367	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	P	364;367;367;387;235;449	ENSP00000299980:R364P;ENSP00000377148:R367P;ENSP00000409153:R367P;ENSP00000403259:R387P	ENSP00000299980:R364P	R	-	2	0	AP1G1	70347561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.466000	0.80914	2.465000	0.83290	0.543000	0.68304	CGT	AP1G1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000166747		0.373	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1	-	0	49	0	C			71790060	-1	tier1	-	no_errors	ENST00000433195	ensembl	human	known	74_37	missense	20.75	42	11	SNP	1.000	G	G	71790060	C	G	71790060	3	3	1	1	0	0	0	0	1	0	0	0	732	536	19	5	1425	5	AP1G1	16	71790060	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	3776053	71790060	18564693	333	333											
VAT1L	57687	genome.wustl.edu	37	chr16	78005824	78005824	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagaaaagaccccaacTccactggtgagtgaaaagca	16	6	10	9	0	0	4	0	2	0	2	1	5	1	4	3	1	2	2	3	1	6	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:78005824T>A	ENST00000302536.2	+	8	1308	c.1155T>A	c.(1153-1155)acT>acA	p.T385T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	385							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGACCCCAACTCCACTGGTGA	0.527											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													158	161	160					16																	78005824		2198	4300	6498	SO:0001819	synonymous_variant	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1155T>A	16.37:g.78005824T>A		1180	Q8IYW8	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.T385	ENST00000302536.2	37	c.1155	CCDS32492.1	16																																																																																			VAT1L	-	NULL	ENSG00000171724		0.527	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0	29	0	T	NM_020927		78005824	1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.997	A	A	78005824	T	A	78005824	2	1	1	1	0	0	0	0	0	0	0	1	17179	1538	54	5		5	VAT1L	16	78005824	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	6215764	78005824	12348929	334	334											
BCMO1	53630	genome.wustl.edu	37	chr16	81293400	81293401	+	Frame_Shift_Del	DEL	AT	AT	-																															atccggacccctgcaaaaacAtattttccaagtaactgcct																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:81293400_81293401delAT	ENST00000258168.2	+	3	774_775	c.313_314delAT	c.(313-315)atafs	p.I105fs	BCMO1_ENST00000425577.2_Intron|BCMO1_ENST00000564552.1_Frame_Shift_Del_p.I105fs	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CTGCAAAAACATATTTTCCAAG	0.406																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000258168.2:c.313_314delAT	16.37:g.81293402_81293403delAT	ENSP00000258168:p.Ile105fs			Frame_Shift_Del	DEL	pfam_Carotenoid_Oase	p.S107fs	ENST00000258168.2	37	c.313_314	CCDS10934.1	16																																																																																			BCMO1	-	pfam_Carotenoid_Oase	ENSG00000135697		0.406	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1		0	79	0	AT			81293401	1	tier1		no_errors	ENST00000258168	ensembl	human	known	74_37	frame_shift_del	20.34	47	12	DEL	1.000:1.000	-	-	81293401	AT	-	81293400	7	5	1	1	0	1	0	1	0	0	0	0	1385	217	8	0	323	0	BCMO1	16	81293400	Frame_Shift_Del	DEL	AT	TCGA-2H-A9GF-01A-11D-A37C-09	3287576	81293400	9061353	335	335											
CDH13	1012	genome.wustl.edu	37	chr16	83250962	83250962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgactaggtagtcgatagtGacaggccagaaaggtccaag	13	7	13	8	1	0	3	0	2	0	1	2	4	1	3	2	3	0	1	2	3	5	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:83250962G>A	ENST00000566620.1	+	5	786	c.496G>A	c.(496-498)Gac>Aac	p.D166N	CDH13_ENST00000428848.3_Missense_Mutation_p.D127N|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.D213N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	166	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGTCGATAGTGACAGGCCAGA	0.448																																																	0													91	87	88					16																	83250962		1876	4105	5981	SO:0001583	missense	0			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.496G>A	16.37:g.83250962G>A	ENSP00000454435:p.Asp166Asn		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D166N	ENST00000566620.1	37	c.496	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620903	0.87460	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143	T	0.74002	-0.8	5.77	5.77	0.91146	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81555	0.4847	M	0.62209	1.925	0.80722	D	1	D;P;B	0.56521	0.976;0.622;0.439	P;B;B	0.54664	0.758;0.306;0.275	T	0.82995	-0.0180	9	0.72032	D	0.01	.	17.4882	0.87694	0.0:0.0:1.0:0.0	.	127;213;166	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	N	213;166;127	ENSP00000268613:D213N	ENSP00000268613:D213N	D	+	1	0	CDH13	81808463	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	6.540000	0.73861	2.720000	0.93068	0.557000	0.71058	GAC	CDH13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140945		0.448	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	-	0	74	0	G	NM_001257		83250962	1	tier1	-	no_errors	ENST00000566620	ensembl	human	known	74_37	missense	52.11	34	37	SNP	1.000	A	A	83250962	G	A	83250962	3	1	1	1	0	0	0	0	1	0	0	0	3106	1290	45	3	514	3	CDH13	16	83250962	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1957562	83250962	7103791	336	336											
ZCCHC14	23174	genome.wustl.edu	37	chr16	87445479	87445479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacggacggaccggagaacgGgtgctggaagtagttggcgt	9	6	18	8	5	0	1	0	0	0	1	0	5	0	4	1	6	2	3	1	6	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:87445479G>A	ENST00000268616.4	-	12	2654	c.2437C>T	c.(2437-2439)Ccg>Tcg	p.P813S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	813							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CCGGAGAACGGGTGCTGGAAG	0.662																																																	0													18	17	17					16																	87445479		2193	4298	6491	SO:0001583	missense	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2437C>T	16.37:g.87445479G>A	ENSP00000268616:p.Pro813Ser		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P813S	ENST00000268616.4	37	c.2437	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376822	0.61735	.	.	ENSG00000140948	ENST00000268616	T	0.30714	1.52	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	L	0.32530	0.975	0.45403	D	0.998382	D;D	0.76494	0.999;0.998	D;P	0.66351	0.943;0.878	T	0.41752	-0.9491	10	0.72032	D	0.01	-27.6598	19.694	0.96016	0.0:0.0:1.0:0.0	.	813;813	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	S	813	ENSP00000268616:P813S	ENSP00000268616:P813S	P	-	1	0	ZCCHC14	86002980	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.881000	0.75584	2.649000	0.89929	0.643000	0.83706	CCG	ZCCHC14	-	NULL	ENSG00000140948		0.662	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	-	0	170	0	G	NM_015144		87445479	-1	tier1	-	no_errors	ENST00000268616	ensembl	human	known	74_37	missense	22.54	110	32	SNP	1.000	A	A	87445479	G	A	87445479	3	1	1	1	0	0	0	0	1	0	0	0	17631	1232	43	3	420	3	ZCCHC14	16	87445479	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4194517	87445479	2909274	337	337											
APRT	353	genome.wustl.edu	37	chr16	88876151	88876151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggtacaggtgccagcttCtccctgcccttaagcgaggt	8	9	12	12	1	1	0	0	0	1	0	2	1	1	0	3	3	5	2	3	3	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr16:88876151C>T	ENST00000378364.3	-	5	542	c.498G>A	c.(496-498)gaG>gaA	p.E166E	APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Silent_p.E139E	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	166					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTGCCAGCTTCTCCCTGCCCT	0.607																																																	0													92	85	88					16																	88876151		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.498G>A	16.37:g.88876151C>T			G5E9J2|Q3KP55|Q68DF9	Silent	SNP	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.E166	ENST00000378364.3	37	c.498	CCDS32511.1	16																																																																																			APRT	-	tigrfam_Ade_phspho_trans	ENSG00000198931		0.607	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	HGNC	protein_coding	OTTHUMT00000430000.2	-	0	32	0	C	NM_000485		88876151	-1	tier1	-	no_errors	ENST00000378364	ensembl	human	known	74_37	silent	25.81	23	8	SNP	1.000	T	T	88876151	C	T	88876151	2	4	1	1	0	0	0	0	0	0	0	1	819	912	32	3		3	APRT	16	88876151	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1430672	88876151	1478602	338	338											
ALOX12	239	genome.wustl.edu	37	chr17	6899505	6899505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcgtacaaccgcgtgcaGctttggctggtcgggacgcg	5	8	17	11	6	0	0	0	0	0	0	2	1	0	1	1	4	4	4	1	4	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:6899505G>A	ENST00000251535.6	+	1	122	c.69G>A	c.(67-69)caG>caA	p.Q23Q	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.5_ENST00000573222.1_lincRNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	23	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ACCGCGTGCAGCTTTGGCTGG	0.756																																																	0													4	4	4					17																	6899505		1694	3255	4949	SO:0001819	synonymous_variant	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.69G>A	17.37:g.6899505G>A			O95569|Q6ISF8|Q9UQM4	Silent	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.Q23	ENST00000251535.6	37	c.69	CCDS11084.1	17																																																																																			ALOX12	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml	ENSG00000108839		0.756	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	-	0	25	0	G			6899505	1	tier1	-	no_errors	ENST00000251535	ensembl	human	known	74_37	silent	50.00	7	7	SNP	1.000	A	A	6899505	G	A	6899505	2	1	1	1	0	0	0	0	0	0	0	1	536	962	34	3		3	ALOX12	17	6899505	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09		6899505	74295705	339	339											
RCVRN	5957	genome.wustl.edu	37	chr17	9808302	9808302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggaacacatgctgggCgtaggccttggggtcggtgt	5	9	18	9	3	0	0	0	0	0	0	1	1	0	1	1	6	3	3	1	6	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:9808302C>T	ENST00000226193.5	-	1	636	c.196G>A	c.(196-198)Gcc>Acc	p.A66T		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	66	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						ACATGCTGGGCGTAGGCCTTG	0.612																																																	0													152	116	128					17																	9808302		2203	4300	6503	SO:0001583	missense	0			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.196G>A	17.37:g.9808302C>T	ENSP00000226193:p.Ala66Thr		Q53XL0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.A66T	ENST00000226193.5	37	c.196	CCDS11151.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.334273	0.95758	.	.	ENSG00000109047	ENST00000226193	T	0.79653	-1.29	4.67	4.67	0.58626	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90202	0.6937	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	D	0.92095	0.5683	10	0.87932	D	0	.	15.4139	0.74948	0.0:1.0:0.0:0.0	.	66	P35243	RECO_HUMAN	T	66	ENSP00000226193:A66T	ENSP00000226193:A66T	A	-	1	0	RCVRN	9749027	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.712000	0.84684	2.302000	0.77476	0.655000	0.94253	GCC	RCVRN	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000109047		0.612	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2	-	0	56	0	C	NM_002903		9808302	-1	tier1	-	no_errors	ENST00000226193	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T	T	9808302	C	T	9808302	3	4	1	1	0	0	0	0	1	0	0	0	13231	768	27	1	418	1	RCVRN	17	9808302	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	2908797	9808302	71386908	340	340											
MYH13	8735	genome.wustl.edu	37	chr17	10204947	10204947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggactcagcgatgtccGccctctccgcggcctcctct	3	9	10	19	4	3	0	1	0	2	0	6	2	5	1	6	2	1	0	6	2	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:10204947G>T	ENST00000418404.3	-	39	5904	c.5741C>A	c.(5740-5742)gCg>gAg	p.A1914E	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1914E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1914					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCGATGTCCGCCCTCTCCGC	0.612																																																	0													83	89	87					17																	10204947		2203	4300	6503	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5741C>A	17.37:g.10204947G>T	ENSP00000404570:p.Ala1914Glu		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1914E	ENST00000418404.3	37	c.5741	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491758	0.64074	.	.	ENSG00000006788	ENST00000252172	D	0.82167	-1.58	3.76	3.76	0.43208	Myosin tail (1);	.	.	.	.	D	0.94387	0.8195	H	0.98218	4.175	0.50039	D	0.999846	D	0.89917	1.0	D	0.85130	0.997	D	0.96712	0.9526	9	0.87932	D	0	.	16.1271	0.81402	0.0:0.0:1.0:0.0	.	1914	Q9UKX3	MYH13_HUMAN	E	1914	ENSP00000252172:A1914E	ENSP00000252172:A1914E	A	-	2	0	MYH13	10145672	1.000000	0.71417	0.549000	0.28204	0.168000	0.22595	9.544000	0.98092	2.097000	0.63578	0.484000	0.47621	GCG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.612	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	73	0	G	NM_003802		10204947	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	69.05	12	29	SNP	0.999	T	T	10204947	G	T	10204947	3	4	1	1	0	0	0	0	1	0	0	0	10070	1087	38	2	83	2	MYH13	17	10204947	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	396645	10204947	70990263	341	341											
MYH1	4619	genome.wustl.edu	37	chr17	10398269	10398269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctccagtttctggatCtgcttcttcccacccttcag	4	14	7	16	0	4	0	1	0	3	0	6	1	6	1	4	2	1	2	4	2	0	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:10398269C>A	ENST00000226207.5	-	37	5539	c.5445G>T	c.(5443-5445)caG>caT	p.Q1815H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1815					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTTCTGGATCTGCTTCTTCC	0.512																																																	0													134	133	133					17																	10398269		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5445G>T	17.37:g.10398269C>A	ENSP00000226207:p.Gln1815His		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1815H	ENST00000226207.5	37	c.5445	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145309	0.77888	.	.	ENSG00000109061	ENST00000226207	T	0.78816	-1.21	5.26	4.28	0.50868	Myosin tail (1);	0.000000	0.40908	U	0.000982	D	0.82518	0.5054	M	0.91510	3.215	0.48341	D	0.999638	B	0.23990	0.095	B	0.30105	0.111	D	0.83467	0.0057	10	0.56958	D	0.05	.	13.3575	0.60635	0.0:0.8699:0.0:0.1301	.	1815	P12882	MYH1_HUMAN	H	1815	ENSP00000226207:Q1815H	ENSP00000226207:Q1815H	Q	-	3	2	MYH1	10338994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.578000	0.36525	2.616000	0.88540	0.561000	0.74099	CAG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.512	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	95	0	C	NM_005963		10398269	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	A	A	10398269	C	A	10398269	3	1	1	1	0	0	0	0	1	0	0	0	10067	912	32	3	390	3	MYH1	17	10398269	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	193322	10398269	70796941	342	342											
C17orf48	56985	genome.wustl.edu	37	chr17	10609815	10609815	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccaagaacagctaaactGgttgaatgaagtgctaacat	16	8	9	8	0	0	3	0	2	0	1	0	3	0	3	1	1	6	3	1	1	7	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:10609815G>A	ENST00000379774.4	+	3	753	c.662G>A	c.(661-663)tGg>tAg	p.W221*	ADPRM_ENST00000609540.1_Nonsense_Mutation_p.W221*	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	221							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CAGCTAAACTGGTTGAATGAA	0.368																																																	0													126	114	118					17																	10609815		2203	4300	6503	SO:0001587	stop_gained	0			BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 48"	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.662G>A	17.37:g.10609815G>A	ENSP00000369099:p.Trp221*		A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Nonsense_Mutation	SNP	pfam_PEstase_dom	p.W221*	ENST00000379774.4	37	c.662	CCDS11159.2	17	.	.	.	.	.	.	.	.	.	.	G	35	5.526160	0.96431	.	.	ENSG00000170222	ENST00000379774	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0423	18.7377	0.91761	0.0:0.0:1.0:0.0	.	.	.	.	X	221	.	ENSP00000369099:W221X	W	+	2	0	C17orf48	10550540	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.037000	0.93765	2.753000	0.94483	0.467000	0.42956	TGG	ADPRM	-	pfam_PEstase_dom	ENSG00000170222		0.368	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRM	HGNC	protein_coding	OTTHUMT00000252732.2	-	0	61	0	G	NM_020233		10609815	1	tier1	-	no_errors	ENST00000379774	ensembl	human	known	74_37	nonsense	69.23	12	27	SNP	1.000	A	A	10609815	G	A	10609815	4	1	1	1	0	0	0	0	0	1	0	0	1865	1357	47	3	668	3	C17orf48	17	10609815	Nonsense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	211546	10609815	70585395	343	343											
ALDOC	230	genome.wustl.edu	37	chr17	26900790	26900790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcctcagtggcagccccaGcattgtcccgttgccctcgc	5	9	9	18	2	1	0	1	0	0	0	4	0	3	0	5	1	3	3	5	1	0	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:26900790G>A	ENST00000226253.4	-	8	1437	c.962C>T	c.(961-963)gCt>gTt	p.A321V	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Missense_Mutation_p.A321V|PIGS_ENST00000308360.7_5'Flank|ALDOC_ENST00000395319.3_Missense_Mutation_p.A293V|PIGS_ENST00000395346.2_5'Flank|PIGS_ENST00000543734.1_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	321					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GGCAGCCCCAGCATTGTCCCG	0.652																																																	0													75	78	77					17																	26900790		2203	4299	6502	SO:0001583	missense	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.962C>T	17.37:g.26900790G>A	ENSP00000226253:p.Ala321Val		B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.A321V	ENST00000226253.4	37	c.962	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	G	4.256	0.046542	0.08243	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.84070	-1.8;-1.8;-1.8	5.46	4.44	0.53790	Aldolase-type TIM barrel (1);	0.104762	0.64402	D	0.000004	T	0.48502	0.1503	N	0.00387	-1.565	0.36226	D	0.852347	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.59568	-0.7430	10	0.02654	T	1	-9.5166	10.5235	0.44934	0.0:0.0:0.6262:0.3738	.	293;321	A8MVZ9;P09972	.;ALDOC_HUMAN	V	293;321;321	ENSP00000378729:A293V;ENSP00000226253:A321V;ENSP00000378731:A321V	ENSP00000226253:A321V	A	-	2	0	ALDOC	23924917	0.568000	0.26635	1.000000	0.80357	0.982000	0.71751	2.296000	0.43584	2.573000	0.86826	0.462000	0.41574	GCT	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.652	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0	54	0	G			26900790	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	26900790	G	A	26900790	3	1	1	1	0	0	0	0	1	0	0	0	509	971	34	3	140	3	ALDOC	17	26900790	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	16290975	26900790	54294420	344	344											
SSH2	85464	genome.wustl.edu	37	chr17	27959030	27959030	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgctctccgctcttcTcactggtggctatttcactc	3	15	7	16	1	4	0	2	0	3	0	7	0	4	0	2	2	1	3	2	2	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:27959030T>G	ENST00000269033.3	-	15	3252	c.3101A>C	c.(3100-3102)gAg>gCg	p.E1034A	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E1061A	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1034					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCTCTTCTCACTGGTGGC	0.488																																																	0													133	121	125					17																	27959030		2203	4300	6503	SO:0001583	missense	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3101A>C	17.37:g.27959030T>G	ENSP00000269033:p.Glu1034Ala		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E1034A	ENST00000269033.3	37	c.3101	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	T	2.508	-0.313700	0.05422	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.10960	2.82;2.82	5.97	4.89	0.63831	.	0.815284	0.11284	N	0.580039	T	0.08447	0.0210	N	0.21448	0.665	0.23325	N	0.997901	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.002	T	0.31586	-0.9938	10	0.41790	T	0.15	-0.0491	8.4063	0.32616	0.0:0.0681:0.1324:0.7995	.	1061;1034	F5H527;Q76I76	.;SSH2_HUMAN	A	1034;1061	ENSP00000269033:E1034A;ENSP00000444743:E1061A	ENSP00000269033:E1034A	E	-	2	0	SSH2	24983156	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	0.488000	0.22371	1.080000	0.41073	0.533000	0.62120	GAG	SSH2	-	NULL	ENSG00000141298		0.488	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0	67	0	T	NM_033389		27959030	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	45.35	46	39	SNP	0.009	G	G	27959030	T	G	27959030	3	3	1	1	0	0	0	0	1	0	0	0	15232	1551	54	4	1174	4	SSH2	17	27959030	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	1058240	27959030	53236180	345	345											
MYO1D	4642	genome.wustl.edu	37	chr17	31091907	31091907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcaccttggcaaaggCgtctctgccgtagctggcct	6	10	10	15	2	2	0	1	0	2	0	4	0	2	0	3	3	2	3	3	3	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:31091907C>T	ENST00000318217.5	-	8	1328	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	MYO1D_ENST00000394649.4_Missense_Mutation_p.A254T|MYO1D_ENST00000583621.1_Missense_Mutation_p.A342T|MYO1D_ENST00000579584.1_Missense_Mutation_p.A342T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	342	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGGCAAAGGCGTCTCTGCCG	0.493																																																	0													196	162	173					17																	31091907		2203	4300	6503	SO:0001583	missense	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1024G>A	17.37:g.31091907C>T	ENSP00000324527:p.Ala342Thr		A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A342T	ENST00000318217.5	37	c.1024	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036327	0.93630	.	.	ENSG00000176658	ENST00000318217	D	0.89875	-2.58	5.93	5.93	0.95920	Myosin head, motor domain (2);	0.000000	0.39274	U	0.001415	D	0.95806	0.8635	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.96171	0.9123	10	0.87932	D	0	.	17.8445	0.88725	0.0:1.0:0.0:0.0	.	253;342	Q7Z3N6;O94832	.;MYO1D_HUMAN	T	342	ENSP00000324527:A342T	ENSP00000324527:A342T	A	-	1	0	MYO1D	28116020	1.000000	0.71417	0.982000	0.44146	0.685000	0.39939	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	GCC	MYO1D	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000176658		0.493	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	-	0	53	0	C			31091907	-1	tier1	-	no_errors	ENST00000318217	ensembl	human	known	74_37	missense	32.81	43	21	SNP	1.000	T	T	31091907	C	T	31091907	3	4	1	1	0	0	0	0	1	0	0	0	10109	768	27	1	2056	1	MYO1D	17	31091907	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	3132877	31091907	50103303	346	346											
ACCN1	40	genome.wustl.edu	37	chr17	31619013	31619013	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgctcgccgcctctgcCgcccccgggctgcccggcag	1	4	13	23	7	1	0	0	0	1	0	2	0	1	0	7	2	2	3	7	2	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:31619013C>T	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Missense_Mutation_p.G41S|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CCGCCTCTGCCGCCCCCGGGC	0.806																																																	0													1	1	1					17																	31619013		252	784	1036	SO:0001627	intron_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179928G>A	17.37:g.31619013C>T			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.G41S	ENST00000359872.6	37	c.121	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	C	2.697	-0.271772	0.05716	.	.	ENSG00000108684	ENST00000225823	T	0.61980	0.06	3.71	1.62	0.23740	.	626.404000	0.00166	N	0.000005	T	0.41488	0.1161	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21109	-1.0255	10	0.14252	T	0.57	.	6.4209	0.21742	0.0:0.7038:0.1866:0.1096	.	41	E9PBX2	.	S	41	ENSP00000225823:G41S	ENSP00000225823:G41S	G	-	1	0	ACCN1	28643126	0.009000	0.17119	0.009000	0.14445	0.755000	0.42902	0.745000	0.26259	-0.334000	0.08463	0.289000	0.19496	GGC	ASIC2	-	NULL	ENSG00000108684		0.806	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	-	0	17	0	C	NM_183377, NM_001094		31619013	-1	tier1	-	no_errors	ENST00000225823	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.679	T	T	31619013	C	T	31619013	1	4	1	0	1	0	0	0	0	0	0	0	128	652	23	1		1	ACCN1	17	31619013	Intron	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	527106	31619013	49576197	347	347											
LHX1	3975	genome.wustl.edu	37	chr17	35300239	35300239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaggcgcagcggtttacCgacatcctggcgcacccacc	8	5	12	16	5	0	0	0	0	0	0	1	2	1	0	4	3	3	3	4	3	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:35300239C>T	ENST00000254457.5	+	5	2443	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	344					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGCGGTTTACCGACATCCTGG	0.741																																																	0													9	12	11					17																	35300239		2181	4263	6444	SO:0001819	synonymous_variant	0			U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"Homeoboxes / LIM class"	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.1032C>T	17.37:g.35300239C>T			Q3MIW0	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.T344	ENST00000254457.5	37	c.1032	CCDS11316.1	17																																																																																			LHX1	-	NULL	ENSG00000132130		0.741	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LHX1	HGNC	protein_coding	OTTHUMT00000256704.3	-	0	12	0	C	NM_005568		35300239	1	tier1	-	no_errors	ENST00000254457	ensembl	human	known	74_37	silent	29.41	12	5	SNP	1.000	T	T	35300239	C	T	35300239	2	4	1	1	0	0	0	0	0	0	0	1	8799	639	23	1		1	LHX1	17	35300239	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	3681226	35300239	45894971	348	348											
BRCA1	672	genome.wustl.edu	37	chr17	41276051	41276051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccagatgggacactctaaGattttctgcatagcattaat	13	13	7	8	0	2	2	0	0	2	2	2	3	2	3	1	1	3	2	1	1	4	6	rs397509303		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:41276051G>A	ENST00000357654.3	-	2	181	c.63C>T	c.(61-63)atC>atT	p.I21I	BRCA1_ENST00000346315.3_Silent_p.I21I|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Silent_p.I21I|BRCA1_ENST00000586385.1_Intron|NBR2_ENST00000460115.1_RNA|BRCA1_ENST00000354071.3_Silent_p.I21I|BRCA1_ENST00000352993.3_Silent_p.I21I|BRCA1_ENST00000491747.2_Silent_p.I21I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000471181.2_Silent_p.I21I|BRCA1_ENST00000351666.3_Silent_p.I21I|BRCA1_ENST00000309486.4_5'UTR	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	21			I -> V (unclassified).		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACACTCTAAGATTTTCTGCA	0.343			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			GRCh37	CI023718	BRCA1	I							108	94	99					17																	41276051		2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.63C>T	17.37:g.41276051G>A			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.I21	ENST00000357654.3	37	c.63	CCDS11453.1	17																																																																																			BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.343	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0	27	0	G	NM_007294		41276051	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	silent	17.65	42	9	SNP	1.000	A	A	41276051	G	A	41276051	2	1	1	1	0	0	0	0	0	0	0	1	1502	932	33	3		3	BRCA1	17	41276051	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5975812	41276051	39919159	349	349											
TOM1L1	10040	genome.wustl.edu	37	chr17	53016302	53016302	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatttcagccttccaagtTctgatgtaacaaacaactta	14	13	5	9	0	2	2	1	1	1	1	3	2	3	2	2	0	4	2	2	0	6	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:53016302T>G	ENST00000575882.1	+	11	1404	c.1051T>G	c.(1051-1053)Tct>Gct	p.S351A	TOM1L1_ENST00000445275.2_Missense_Mutation_p.S351A|TOM1L1_ENST00000572158.1_Missense_Mutation_p.S344A|TOM1L1_ENST00000540336.1_Missense_Mutation_p.S239A|TOM1L1_ENST00000348161.4_Missense_Mutation_p.S274A|TOM1L1_ENST00000536554.1_Missense_Mutation_p.S274A	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	351					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CCTTCCAAGTTCTGATGTAAC	0.363																																																	0													94	86	89					17																	53016302		2203	4300	6503	SO:0001583	missense	0			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1051T>G	17.37:g.53016302T>G	ENSP00000460823:p.Ser351Ala		Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.S351A	ENST00000575882.1	37	c.1051	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	T	2.045	-0.419093	0.04766	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.21932	2.0;1.98;1.98;1.98	5.1	0.708	0.18144	.	2.465520	0.01695	N	0.026854	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.22695	-1.0209	10	0.13108	T	0.6	-0.0393	3.3564	0.07171	0.1801:0.5225:0.0:0.2974	.	239;344;274;351	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	A	351;239;274;274	ENSP00000408958:S351A;ENSP00000441242:S239A;ENSP00000343901:S274A;ENSP00000443099:S274A	ENSP00000343901:S274A	S	+	1	0	TOM1L1	50371301	0.004000	0.15560	0.007000	0.13788	0.588000	0.36517	0.341000	0.19909	0.714000	0.32081	-0.479000	0.04858	TCT	TOM1L1	-	pirsf_TOM1	ENSG00000141198		0.363	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	-	0	71	0	T	NM_005486		53016302	1	tier1	-	no_errors	ENST00000575882	ensembl	human	known	74_37	missense	19.72	57	14	SNP	0.000	G	G	53016302	T	G	53016302	3	3	1	1	0	0	0	0	1	0	0	0	16399	1783	62	4	1093	4	TOM1L1	17	53016302	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	11740251	53016302	28178908	350	350											
TBX4	9496	genome.wustl.edu	37	chr17	59533902	59533902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggccttccgggccccGggcccagcgctcggagaggc	5	3	18	15	4	0	1	0	0	0	1	2	4	1	2	5	6	1	1	5	6	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:59533902G>A	ENST00000240335.1	+	1	96	c.51G>A	c.(49-51)ccG>ccA	p.P17P	TBX4_ENST00000393853.4_Silent_p.P17P	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	17					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCGGGCCCCGGGCCCAGCGC	0.746																																																	0													8	7	8					17																	59533902		2123	4194	6317	SO:0001819	synonymous_variant	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"T-boxes"	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.51G>A	17.37:g.59533902G>A			A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P17	ENST00000240335.1	37	c.51	CCDS11629.1	17																																																																																			TBX4	-	NULL	ENSG00000121075		0.746	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	-	0	40	0	G	NM_018488		59533902	1	tier1	-	no_errors	ENST00000393853	ensembl	human	known	74_37	silent	38.89	22	14	SNP	0.996	A	A	59533902	G	A	59533902	2	1	1	1	0	0	0	0	0	0	0	1	15707	1103	39	1		1	TBX4	17	59533902	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	6517600	59533902	21661308	351	351											
TLK2	11011	genome.wustl.edu	37	chr17	60673967	60673967	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcatgtagggaataccgGattcataaagagctggatca	14	9	11	7	1	2	1	2	0	0	1	2	4	2	4	1	3	3	3	1	3	5	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:60673967G>T	ENST00000326270.9	+	18	1816	c.1548G>T	c.(1546-1548)cgG>cgT	p.R516R	TLK2_ENST00000542523.1_Silent_p.R462R|TLK2_ENST00000346027.5_Silent_p.R494R|TLK2_ENST00000343388.7_Silent_p.R462R|TLK2_ENST00000582809.1_Silent_p.R345R	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	516	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GGGAATACCGGATTCATAAAG	0.378																																																	0													205	178	187					17																	60673967		2203	4300	6503	SO:0001819	synonymous_variant	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1548G>T	17.37:g.60673967G>T			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R516	ENST00000326270.9	37	c.1548		17																																																																																			TLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000146872		0.378	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	-	0	58	0	G	NM_006852		60673967	1	tier1	-	no_errors	ENST00000326270	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T	T	60673967	G	T	60673967	2	4	1	1	0	0	0	0	0	0	0	1	15991	1161	41	3		3	TLK2	17	60673967	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1140065	60673967	20521243	352	352											
ABCA6	23460	genome.wustl.edu	37	chr17	67094077	67094077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccttgtaatcactgatgCtgcccatggtgatataagga	11	13	9	8	0	1	2	1	2	0	0	1	3	1	3	2	2	3	2	2	2	4	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:67094077C>T	ENST00000284425.2	-	23	3278	c.3104G>A	c.(3103-3105)aGc>aAc	p.S1035N	MIR4524B_ENST00000581569.1_RNA|ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1035					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCACTGATGCTGCCCATGGT	0.363																																																	0													58	53	55					17																	67094077		2203	4300	6503	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3104G>A	17.37:g.67094077C>T	ENSP00000284425:p.Ser1035Asn		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S1035N	ENST00000284425.2	37	c.3104	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879495	0.51801	.	.	ENSG00000154262	ENST00000284425	D	0.87029	-2.2	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000007	D	0.89901	0.6849	M	0.76838	2.35	0.80722	D	1	P	0.45474	0.859	P	0.51777	0.679	D	0.87089	0.2171	10	0.21014	T	0.42	.	13.8152	0.63287	0.0:1.0:0.0:0.0	.	1035	Q8N139	ABCA6_HUMAN	N	1035	ENSP00000284425:S1035N	ENSP00000284425:S1035N	S	-	2	0	ABCA6	64605672	0.988000	0.35896	0.995000	0.50966	0.823000	0.46562	3.587000	0.53957	2.717000	0.92951	0.557000	0.71058	AGC	ABCA6	-	NULL	ENSG00000154262		0.363	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0	71	0	C	NM_080284		67094077	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.990	T	T	67094077	C	T	67094077	3	4	1	1	0	0	0	0	1	0	0	0	36	797	28	3	1817	3	ABCA6	17	67094077	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6420110	67094077	14101133	353	353											
RPL38	6169	genome.wustl.edu	37	chr17	72200319	72200319	+	Frame_Shift_Del	DEL	G	G	-																															ctgctcacagcccgacgaaaGgatgccaaatgtaagtggtt																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:72200319delG	ENST00000311111.6	+	3	185	c.54delG	c.(52-54)aagfs	p.K18fs	RPL38_ENST00000584577.1_Frame_Shift_Del_p.K18fs|RPL38_ENST00000439590.2_Frame_Shift_Del_p.K18fs|RPL38_ENST00000534490.1_Frame_Shift_Del_p.K18fs|RPL38_ENST00000533498.1_Frame_Shift_Del_p.K18fs			P63173	RL38_HUMAN	ribosomal protein L38	18					90S preribosome assembly (GO:0034463)|axial mesoderm development (GO:0048318)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|middle ear morphogenesis (GO:0042474)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ossification (GO:0001503)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|eukaryotic 80S initiation complex (GO:0033291)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|pancreas(1)	2						CCCGACGAAAGGATGCCAAAT	0.562											OREG0024710	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													81	75	77					17																	72200319		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007185	CCDS11696.1	17q25.1	2013-06-19			ENSG00000172809	ENSG00000172809		"L ribosomal proteins"	10349	protein-coding gene	gene with protein product		604182				9582194	Standard	NM_000999		Approved	L38	uc002jka.3	P63173	OTTHUMG00000166016	ENST00000311111.6:c.54delG	17.37:g.72200319delG	ENSP00000309830:p.Lys18fs	1135	B2R5A8|P23411	Frame_Shift_Del	DEL	pfam_Ribosomal_L38e	p.D19fs	ENST00000311111.6	37	c.54	CCDS11696.1	17																																																																																			RPL38	-	pfam_Ribosomal_L38e	ENSG00000172809		0.562	RPL38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL38	HGNC	protein_coding	OTTHUMT00000387450.2		0	35	0	G	NM_000999		72200319	1	tier1		no_errors	ENST00000311111	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	72200319	G	-	72200319	7	5	1	1	0	1	0	1	0	0	0	0	13636	991	35	0	60	0	RPL38	17	72200319	Frame_Shift_Del	DEL	G	TCGA-2H-A9GF-01A-11D-A37C-09	5106242	72200319	8994891	354	354											
ST6GALNAC1	55808	genome.wustl.edu	37	chr17	74625767	74625767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggactgtagagaccttTctttaatgttctctgtgcgt	7	15	10	9	1	2	1	0	0	2	1	3	3	2	2	2	1	1	2	2	1	2	5	rs553287484		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:74625767T>A	ENST00000156626.7	-	2	357	c.158A>T	c.(157-159)gAa>gTa	p.E53V	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	53					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TAGAGACCTTTCTTTAATGTT	0.478																																																	0													120	112	115					17																	74625767		2203	4300	6503	SO:0001583	missense	0			Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"Sialyltransferases"	23614	protein-coding gene	gene with protein product		610138	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.158A>T	17.37:g.74625767T>A	ENSP00000156626:p.Glu53Val		Q6UW90|Q9NSC6	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.E53V	ENST00000156626.7	37	c.158	CCDS11748.1	17	.	.	.	.	.	.	.	.	.	.	T	9.797	1.179547	0.21787	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	T;T	0.31769	1.5;1.48	4.35	-6.26	0.02033	.	2.902000	0.02150	N	0.057941	T	0.15046	0.0363	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10451	-1.0629	10	0.46703	T	0.11	1.5227	0.7715	0.01024	0.391:0.2683:0.134:0.2067	.	53	Q9NSC7	SIA7A_HUMAN	V	53	ENSP00000156626:E53V;ENSP00000351991:E53V	ENSP00000156626:E53V	E	-	2	0	ST6GALNAC1	72137362	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.929000	0.01558	-1.254000	0.02485	-0.892000	0.02923	GAA	ST6GALNAC1	-	NULL	ENSG00000070526		0.478	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC1	HGNC	protein_coding	OTTHUMT00000450974.1	-	0	27	0	T	NM_018414		74625767	-1	tier1	-	no_errors	ENST00000156626	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.000	A	A	74625767	T	A	74625767	3	1	1	1	0	0	0	0	1	0	0	0	15270	1783	62	5	1676	5	ST6GALNAC1	17	74625767	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	2425448	74625767	6569443	355	355											
C17orf56	146705	genome.wustl.edu	37	chr17	79207238	79207238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccccactcacccgtgcGgccgtgttccttgctgtagc	3	10	9	19	3	1	0	1	0	0	0	3	0	3	0	6	1	3	3	6	1	1	3	rs566719497		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:79207238G>A	ENST00000300714.3	-	7	577	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	ENTHD2_ENST00000374769.2_Missense_Mutation_p.R22C|AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	174						cytoplasmic vesicle (GO:0031410)											TCACCCGTGCGGCCGTGTTCC	0.682													A|||	1	0.000199681	0	0	5008	,	,		16197	0		0.001	False		,,,				2504	0																0													45	42	43					17																	79207238		2203	4300	6503	SO:0001583	missense	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.520C>T	17.37:g.79207238G>A	ENSP00000300714:p.Arg174Cys		Q6ZQU0|Q6ZSQ9	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.R174C	ENST00000300714.3	37	c.520	CCDS11779.1	17	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375918	0.42105	.	.	ENSG00000167302	ENST00000300714;ENST00000374769	T	0.25579	1.79	4.88	0.301	0.15781	.	1.014140	0.07874	N	0.968342	T	0.20455	0.0492	N	0.22421	0.69	0.09310	N	1	B;D	0.67145	0.025;0.996	B;P	0.50708	0.003;0.648	T	0.12785	-1.0534	10	0.52906	T	0.07	-1.7669	1.5835	0.02639	0.201:0.1158:0.473:0.2102	.	174;22	Q96N21;Q96N21-2	CQ056_HUMAN;.	C	174;22	ENSP00000300714:R174C	ENSP00000300714:R174C	R	-	1	0	C17orf56	76821833	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.453000	0.21811	0.144000	0.18951	-2.806000	0.00112	CGC	ENTHD2	-	NULL	ENSG00000167302		0.682	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	-	0	101	0	G	NM_144679		79207238	-1	tier1	-	no_errors	ENST00000300714	ensembl	human	known	74_37	missense	28.85	74	30	SNP	0.000	A	A	79207238	G	A	79207238	3	1	1	1	0	0	0	0	1	0	0	0	1870	1116	39	1	1081	1	C17orf56	17	79207238	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	4581471	79207238	1987972	356	356											
BAHCC1	57597	genome.wustl.edu	37	chr17	79412612	79412612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactttaaatgtctgccctgCcagcagccccgggcctggct	6	9	10	16	1	1	0	0	0	1	0	1	0	1	0	5	2	4	2	5	2	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr17:79412612C>T	ENST00000307745.7	+	14	3068	c.3068C>T	c.(3067-3069)gCc>gTc	p.A1023V																								GTCTGCCCTGCCAGCAGCCCC	0.687																																																	0													8	11	10					17																	79412612		1722	3792	5514	SO:0001583	missense	0																														ENST00000307745.7:c.3068C>T	17.37:g.79412612C>T	ENSP00000303486:p.Ala1023Val			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.A1023V	ENST00000307745.7	37	c.3068		17	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277593	0.23307	.	.	ENSG00000171282	ENST00000307745	T	0.12774	2.65	4.39	2.28	0.28536	.	1.376050	0.05125	N	0.491424	T	0.10294	0.0252	N	0.19112	0.55	0.09310	N	1	B;B	0.29646	0.099;0.253	B;B	0.28232	0.04;0.087	T	0.38993	-0.9635	10	0.30078	T	0.28	.	8.5307	0.33333	0.1633:0.5194:0.3173:0.0	.	1023;1023	Q9P281;F8WBW8	BAHC1_HUMAN;.	V	1023	ENSP00000303486:A1023V	ENSP00000303486:A1023V	A	+	2	0	AC110285.1	77027207	0.000000	0.05858	0.000000	0.03702	0.362000	0.29581	0.982000	0.29539	0.426000	0.26116	0.491000	0.48974	GCC	RP11-1055B8.7	-	NULL	ENSG00000171282		0.687	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding		-	0	58	0	C			79412612	1	tier1	-	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.002	T	T	79412612	C	T	79412612	3	4	1	1	0	0	0	0	1	0	0	0	1297	739	26	3	2937	3	BAHCC1	17	79412612	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	205374	79412612	1782598	357	357											
EPB41L3	23136	genome.wustl.edu	37	chr18	5445237	5445237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcacttgtcctctggAgcgtttctacagaaaacaga	14	9	8	10	1	2	2	0	0	2	2	3	3	3	3	1	1	5	2	1	1	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:5445237A>G	ENST00000341928.2	-	4	728	c.388T>C	c.(388-390)Tcc>Ccc	p.S130P	EPB41L3_ENST00000400111.3_Missense_Mutation_p.S130P|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S130P|EPB41L3_ENST00000540638.2_Missense_Mutation_p.S130P|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S130P|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	130	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTCCTCTGGAGCGTTTCTAC	0.378																																																	0													120	99	106					18																	5445237		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.388T>C	18.37:g.5445237A>G	ENSP00000343158:p.Ser130Pro		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.S130P	ENST00000341928.2	37	c.388	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994957	0.74703	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.82	4.63	0.57726	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.178676	0.49916	D	0.000124	D	0.87869	0.6286	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.986;0.994;0.992;0.999	D;P;P;P;D	0.83275	0.996;0.84;0.874;0.8;0.984	D	0.88530	0.3102	10	0.72032	D	0.01	.	12.082	0.53675	0.8558:0.1442:0.0:0.0	.	130;130;21;130;130	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	P	130;21;130;21;130;130;211	ENSP00000343158:S130P;ENSP00000441174:S130P;ENSP00000341138:S130P;ENSP00000382981:S130P	ENSP00000343158:S130P	S	-	1	0	EPB41L3	5435237	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.824000	0.48088	0.995000	0.38917	0.383000	0.25322	TCC	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000082397		0.378	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	51	0	A	NM_012307		5445237	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	G	G	5445237	A	G	5445237	3	3	1	1	0	0	0	0	1	0	0	0	5170	304	11	4	2951	4	EPB41L3	18	5445237	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09		5445237	72632011	358	358											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6215771	6215771	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttaaaaactttggcaggaActgcattggtttgagtagct	11	15	10	5	0	0	1	0	1	0	0	0	2	0	2	0	3	4	5	0	3	5	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:6215771A>C	ENST00000284898.6	-	11	1048	c.848T>G	c.(847-849)gTt>gGt	p.V283G	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.V96G|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.V283G|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.V283G|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.V283G	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	283					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTGGCAGGAACTGCATTGGT	0.338																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													61	62	62					18																	6215771		2203	4300	6503	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.848T>G	18.37:g.6215771A>C	ENSP00000284898:p.Val283Gly		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.V283G	ENST00000284898.6	37	c.848	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437199	0.62955	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.3	4.14	0.48551	.	0.389496	0.22789	N	0.055640	T	0.56702	0.2003	M	0.62723	1.935	0.58432	D	0.999993	B;P	0.45827	0.231;0.867	P;D	0.63597	0.473;0.916	T	0.56733	-0.7930	10	0.87932	D	0	.	7.8954	0.29704	0.9054:0.0:0.0946:0.0	.	283;283	Q8NA19;F8W9S8	LMBL4_HUMAN;.	G	283;283;283;96;283	ENSP00000382976:V283G;ENSP00000318543:V283G;ENSP00000284898:V283G;ENSP00000444774:V96G;ENSP00000382975:V283G	ENSP00000284898:V283G	V	-	2	0	L3MBTL4	6205771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.743000	0.47442	0.965000	0.38133	0.533000	0.62120	GTT	L3MBTL4	-	smart_Mbt,pfscan_Mbt	ENSG00000154655		0.338	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	55	0	A	NM_173464		6215771	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	38.98	36	23	SNP	1.000	C	C	6215771	A	C	6215771	3	2	1	1	0	0	0	0	1	0	0	0	8622	43	2	4	1063	4	L3MBTL4	18	6215771	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	770534	6215771	71861477	359	359											
LAMA1	284217	genome.wustl.edu	37	chr18	6950864	6950864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaacatgaagtggaggcGgcccccgtgcagctggagca	10	5	15	11	2	1	1	1	1	0	0	1	3	1	3	2	4	4	3	2	4	2	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:6950864G>A	ENST00000389658.3	-	58	8407	c.8314C>T	c.(8314-8316)Cgc>Tgc	p.R2772C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2772	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AAGTGGAGGCGGCCCCCGTGC	0.572																																																	0													101	86	91					18																	6950864		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8314C>T	18.37:g.6950864G>A	ENSP00000374309:p.Arg2772Cys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2772C	ENST00000389658.3	37	c.8314	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085148	0.36758	.	.	ENSG00000101680	ENST00000389658	T	0.78595	-1.19	5.5	2.78	0.32641	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.905258	0.09542	N	0.788108	D	0.83312	0.5227	M	0.79475	2.455	0.32165	N	0.582398	D;D	0.76494	0.995;0.999	P;P	0.58391	0.719;0.838	T	0.76961	-0.2765	10	0.48119	T	0.1	.	4.4783	0.11755	0.2157:0.0:0.5252:0.2591	.	2772;102	P25391;B3KSD8	LAMA1_HUMAN;.	C	2772	ENSP00000374309:R2772C	ENSP00000374309:R2772C	R	-	1	0	LAMA1	6940864	0.984000	0.35163	0.180000	0.23079	0.501000	0.33797	1.921000	0.40035	0.303000	0.22785	0.561000	0.74099	CGC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.572	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	41	0	G	NM_005559		6950864	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.542	A	A	6950864	G	A	6950864	3	1	1	1	0	0	0	0	1	0	0	0	8633	1116	39	1	937	1	LAMA1	18	6950864	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	735093	6950864	71126384	360	360											
AFG3L2	10939	genome.wustl.edu	37	chr18	12356720	12356720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccacaccaacgaacatCtccaaaaactcagatccact	15	5	5	16	1	2	1	1	0	1	1	4	2	3	1	4	1	3	0	4	1	4	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:12356720C>T	ENST00000269143.3	-	9	1368	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	379					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CAACGAACATCTCCAAAAACT	0.542																																																	0													209	158	175					18																	12356720		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1137G>A	18.37:g.12356720C>T			Q6P1L0	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.E379	ENST00000269143.3	37	c.1137	CCDS11859.1	18																																																																																			AFG3L2	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	ENSG00000141385		0.542	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0	51	0	C	NM_006796		12356720	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	silent	43.86	32	25	SNP	1.000	T	T	12356720	C	T	12356720	2	4	1	1	0	0	0	0	0	0	0	1	360	912	32	3		3	AFG3L2	18	12356720	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	5405856	12356720	65720528	361	361											
KIAA1468	57614	genome.wustl.edu	37	chr18	59941278	59941278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctgctttcattatctcaTgctcctcttgatagcctgaa	8	15	6	12	1	3	2	2	2	2	0	5	2	4	2	2	0	3	3	2	0	3	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:59941278T>A	ENST00000398130.2	+	21	3058	c.2826T>A	c.(2824-2826)caT>caA	p.H942Q	KIAA1468_ENST00000256858.6_Missense_Mutation_p.H976Q	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	942										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CATTATCTCATGCTCCTCTTG	0.348																																																	0													131	127	128					18																	59941278		2203	4300	6503	SO:0001583	missense	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2826T>A	18.37:g.59941278T>A	ENSP00000381198:p.His942Gln			Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.H976Q	ENST00000398130.2	37	c.2928	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625399	0.66901	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.69040	-0.37;-0.37	6.17	5.01	0.66863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	L	0.42245	1.32	0.58432	D	0.999996	P;D;D	0.89917	0.935;0.979;1.0	P;P;D	0.83275	0.785;0.723;0.996	T	0.71718	-0.4508	9	.	.	.	-16.5443	10.981	0.47494	0.0:0.1286:0.0:0.8714	.	976;942;586	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	Q	942;976	ENSP00000381198:H942Q;ENSP00000256858:H976Q	.	H	+	3	2	KIAA1468	58092258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.766000	0.38491	1.147000	0.42369	0.533000	0.62120	CAT	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.348	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	-	0	66	0	T	NM_020854		59941278	1	tier1	-	no_errors	ENST00000256858	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	59941278	T	A	59941278	3	1	1	1	0	0	0	0	1	0	0	0	8263	1461	51	5	2908	5	KIAA1468	18	59941278	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	47584558	59941278	18135970	362	362											
NFATC1	4772	genome.wustl.edu	37	chr18	77170490	77170490	+	Frame_Shift_Del	DEL	T	T	-																															gccggccccgtgccacaaccTtcagacctccacaccgggca																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr18:77170490delT	ENST00000427363.2	+	2	215	c.215delT	c.(214-216)cttfs	p.L72fs	NFATC1_ENST00000318065.5_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000586434.1_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000592223.1_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Frame_Shift_Del_p.L72fs|NFATC1_ENST00000542384.1_Frame_Shift_Del_p.L72fs|NFATC1_ENST00000591814.1_Frame_Shift_Del_p.L72fs|NFATC1_ENST00000329101.4_Frame_Shift_Del_p.L59fs|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Frame_Shift_Del_p.L72fs			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	72					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TGCCACAACCTTCAGACCTCC	0.667																																					GBM(151;1210 2593 28719 45011)												0													56	63	61					18																	77170490		2203	4299	6502	SO:0001589	frameshift_variant	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.215delT	18.37:g.77170490delT	ENSP00000389377:p.Leu72fs		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Frame_Shift_Del	DEL	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Q73fs	ENST00000427363.2	37	c.215		18																																																																																			NFATC1	-	NULL	ENSG00000131196		0.667	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1		0	50	0	T	NM_172390		77170490	1	tier1		no_errors	ENST00000427363	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.993	-	-	77170490	T	-	77170490	7	5	1	1	0	1	0	1	0	0	0	0	10400	1609	56	0	313	0	NFATC1	18	77170490	Frame_Shift_Del	DEL	T	TCGA-2H-A9GF-01A-11D-A37C-09	17229212	77170490	906758	363	363											
ZNF554	115196	genome.wustl.edu	37	chr19	2833992	2833992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgagttagatattacaagCttggcatccgattcagtctt	11	13	9	8	2	2	1	1	0	1	1	3	3	3	1	1	1	3	3	1	1	4	6			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:2833992C>T	ENST00000317243.5	+	5	957	c.759C>T	c.(757-759)agC>agT	p.S253S	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATATTACAAGCTTGGCATCCG	0.463																																																	0													102	101	101					19																	2833992		1922	4126	6048	SO:0001819	synonymous_variant	0			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.759C>T	19.37:g.2833992C>T			Q8NAT3|Q9BWN3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S253	ENST00000317243.5	37	c.759	CCDS42462.1	19																																																																																			ZNF554	-	NULL	ENSG00000172006		0.463	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF554	HGNC	protein_coding	OTTHUMT00000451598.3	-	0	31	0	C	NM_152303		2833992	1	tier1	-	no_errors	ENST00000317243	ensembl	human	known	74_37	silent	45.16	17	14	SNP	0.034	T	T	2833992	C	T	2833992	2	4	1	1	0	0	0	0	0	0	0	1	18033	796	28	3		3	ZNF554	19	2833992	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		2833992	56294991	364	364											
C19orf29	58509	genome.wustl.edu	37	chr19	3624063	3624063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgactgctcctctcctgagtCcgactgagaggacccatctc	7	10	9	15	1	2	3	0	3	2	1	6	6	4	4	4	1	1	1	4	1	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:3624063C>T	ENST00000429344.2	-	2	317	c.265G>A	c.(265-267)Gac>Aac	p.D89N	CACTIN_ENST00000221899.3_Missense_Mutation_p.D21N|CACTIN_ENST00000248420.5_Missense_Mutation_p.D89N	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	89					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCTCCTGAGTCCGACTGAGAG	0.677																																																	0													47	56	53					19																	3624063		1992	4132	6124	SO:0001583	missense	0			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.265G>A	19.37:g.3624063C>T	ENSP00000415078:p.Asp89Asn		A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.D21N	ENST00000429344.2	37	c.61	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045765	0.36085	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	4.81	4.81	0.61882	.	0.532999	0.16263	U	0.222149	T	0.28200	0.0696	L	0.44542	1.39	0.23138	N	0.998233	P	0.37781	0.608	B	0.32980	0.156	T	0.28522	-1.0041	9	0.66056	D	0.02	.	8.5455	0.33419	0.0:0.8888:0.0:0.1112	.	89	Q8WUQ7	CS029_HUMAN	N	89;89;21	.	ENSP00000221899:D21N	D	-	1	0	C19orf29	3575063	0.090000	0.21635	0.891000	0.34965	0.015000	0.08874	0.402000	0.20965	2.227000	0.72691	0.561000	0.74099	GAC	CACTIN	-	NULL	ENSG00000105298		0.677	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	-	0	54	0	C			3624063	-1	tier1	-	no_errors	ENST00000221899	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.553	T	T	3624063	C	T	3624063	3	4	1	1	0	0	0	0	1	0	0	0	1925	855	30	3	2047	3	C19orf29	19	3624063	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	790071	3624063	55504920	365	365											
INSR	3643	genome.wustl.edu	37	chr19	7125392	7125392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaccgtcttcaccgccaCgcgggtctctgcctcaccct	4	10	9	18	4	4	1	2	1	2	0	5	1	4	1	5	1	1	1	5	1	0	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:7125392C>T	ENST00000302850.5	-	17	3302	c.3160G>A	c.(3160-3162)Gtg>Atg	p.V1054M	INSR_ENST00000341500.5_Missense_Mutation_p.V1042M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1054	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TTCACCGCCACGCGGGTCTCT	0.592																																																	0													151	116	128					19																	7125392		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3160G>A	19.37:g.7125392C>T	ENSP00000303830:p.Val1054Met		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.V1054M	ENST00000302850.5	37	c.3160	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378025	0.82682	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.89939	-2.59;-2.59	5.06	5.06	0.68205	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41500	D	0.000879	D	0.95840	0.8646	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96667	0.9493	10	0.87932	D	0	.	15.9578	0.79898	0.0:1.0:0.0:0.0	.	1042;1054	P06213-2;P06213	.;INSR_HUMAN	M	1054;1042	ENSP00000303830:V1054M;ENSP00000342838:V1042M	ENSP00000303830:V1054M	V	-	1	0	INSR	7076392	1.000000	0.71417	0.957000	0.39632	0.733000	0.41908	7.320000	0.79064	2.638000	0.89438	0.655000	0.94253	GTG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171105		0.592	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	-	0	32	0	C			7125392	-1	tier1	-	no_errors	ENST00000302850	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.999	T	T	7125392	C	T	7125392	3	4	1	1	0	0	0	0	1	0	0	0	7800	536	19	1	1012	1	INSR	19	7125392	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	3501329	7125392	52003591	366	366											
MUC16	94025	genome.wustl.edu	37	chr19	9066597	9066597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctctctcagtccaggaGtcaaggaatatgttgactct	9	13	10	9	0	4	1	2	1	3	0	7	3	5	3	1	3	0	1	1	3	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:9066597G>T	ENST00000397910.4	-	3	21052	c.20849C>A	c.(20848-20850)aCt>aAt	p.T6950N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6952	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCCAGGAGTCAAGGAATA	0.448																																																	0													169	162	165					19																	9066597		1934	4150	6084	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20849C>A	19.37:g.9066597G>T	ENSP00000381008:p.Thr6950Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T6950N	ENST00000397910.4	37	c.20849	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.190	0.033946	0.08101	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	2.77	-5.31	0.02730	.	.	.	.	.	T	0.03136	0.0092	L	0.50333	1.59	.	.	.	P	0.44344	0.833	B	0.42030	0.373	T	0.18147	-1.0346	8	0.87932	D	0	.	5.4976	0.16811	0.2335:0.4956:0.2708:0.0	.	6950	B5ME49	.	N	6950	ENSP00000381008:T6950N	ENSP00000381008:T6950N	T	-	2	0	MUC16	8927597	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.607000	0.02070	-0.892000	0.03935	-0.693000	0.03709	ACT	MUC16	-	NULL	ENSG00000181143		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	67	0	G	NM_024690		9066597	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.000	T	T	9066597	G	T	9066597	3	4	1	1	0	0	0	0	1	0	0	0	10011	1029	36	3	23002	3	MUC16	19	9066597	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1941205	9066597	50062386	367	367											
MUC16	94025	genome.wustl.edu	37	chr19	9076366	9076366	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtactactgggagtccaacTtgtacttaaaatgtcaggaa	13	12	9	7	0	1	0	1	0	0	0	2	2	2	2	1	2	4	2	1	2	7	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:9076366T>G	ENST00000397910.4	-	3	11283	c.11080A>C	c.(11080-11082)Agt>Cgt	p.S3694R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3695	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTCCAACTTGTACTTAAA	0.443																																																	0													98	94	95					19																	9076366		1955	4152	6107	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11080A>C	19.37:g.9076366T>G	ENSP00000381008:p.Ser3694Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S3694R	ENST00000397910.4	37	c.11080	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	5.307	0.242014	0.10077	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.03	2.03	0.26663	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	.	.	.	P	0.35208	0.49	B	0.43728	0.429	T	0.33599	-0.9862	8	0.87932	D	0	.	6.0601	0.19832	0.0:0.0:0.0:1.0	.	3694	B5ME49	.	R	3694	ENSP00000381008:S3694R	ENSP00000381008:S3694R	S	-	1	0	MUC16	8937366	0.016000	0.18221	0.016000	0.15963	0.085000	0.17905	1.839000	0.39220	1.173000	0.42796	0.260000	0.18958	AGT	MUC16	-	NULL	ENSG00000181143		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	56	0	T	NM_024690		9076366	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.026	G	G	9076366	T	G	9076366	3	3	1	1	0	0	0	0	1	0	0	0	10011	1609	56	4	32771	4	MUC16	19	9076366	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	9769	9076366	50052617	368	368											
MUC16	94025	genome.wustl.edu	37	chr19	9082408	9082408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctggagaactctttcttCtggctgtgggttctgtggga	4	17	13	7	0	5	1	0	0	5	1	5	3	5	2	0	4	1	2	0	4	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:9082408C>T	ENST00000397910.4	-	1	9610	c.9407G>A	c.(9406-9408)aGa>aAa	p.R3136K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3137	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCTTTCTTCTGGCTGTGGG	0.493																																																	0													182	185	184					19																	9082408		1911	4133	6044	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.9407G>A	19.37:g.9082408C>T	ENSP00000381008:p.Arg3136Lys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.R3136K	ENST00000397910.4	37	c.9407	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.281	-0.146972	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	0.541	-1.08	0.09936	.	.	.	.	.	T	0.01627	0.0052	N	0.08118	0	.	.	.	B	0.14438	0.01	B	0.11329	0.006	T	0.43147	-0.9409	7	0.87932	D	0	.	.	.	.	.	3136	B5ME49	.	K	3136	ENSP00000381008:R3136K	ENSP00000381008:R3136K	R	-	2	0	MUC16	8943408	0.002000	0.14202	0.000000	0.03702	0.055000	0.15305	-0.330000	0.07925	-0.450000	0.07107	0.313000	0.20887	AGA	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	87	0	C	NM_024690		9082408	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.000	T	T	9082408	C	T	9082408	3	4	1	1	0	0	0	0	1	0	0	0	10011	913	32	3	34452	3	MUC16	19	9082408	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	6042	9082408	50046575	369	369											
ICAM5	7087	genome.wustl.edu	37	chr19	10400795	10400795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctggggctcttcggcCtctcaggtaagagccccgct	4	9	14	14	2	2	1	1	0	2	1	4	1	2	1	4	5	1	3	4	5	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:10400795C>T	ENST00000221980.4	+	1	139	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	26					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCTCTTCGGCCTCTCAGGTAA	0.721																																																	0													6	7	7					19																	10400795		1883	3602	5485	SO:0001583	missense	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.76C>T	19.37:g.10400795C>T	ENSP00000221980:p.Leu26Phe		Q9Y6F3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.L26F	ENST00000221980.4	37	c.76	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252796	0.39797	.	.	ENSG00000105376	ENST00000221980	T	0.41758	0.99	4.09	1.87	0.25490	.	1.295080	0.05064	N	0.480408	T	0.28797	0.0714	L	0.27053	0.805	0.22639	N	0.998902	P	0.50443	0.935	B	0.41764	0.366	T	0.14531	-1.0469	10	0.21540	T	0.41	-6.331	4.5069	0.11893	0.228:0.6541:0.0:0.1179	.	26	Q9UMF0	ICAM5_HUMAN	F	26	ENSP00000221980:L26F	ENSP00000221980:L26F	L	+	1	0	ICAM5	10261795	0.204000	0.23447	0.805000	0.32314	0.816000	0.46133	0.361000	0.20267	0.341000	0.23771	0.442000	0.29010	CTC	ICAM5	-	pfam_ICAM_N	ENSG00000105376		0.721	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0	19	0	C	NM_003259		10400795	1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.627	T	T	10400795	C	T	10400795	3	4	1	1	0	0	0	0	1	0	0	0	7510	681	24	3	78	3	ICAM5	19	10400795	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1318387	10400795	48728188	370	370											
ICAM3	3385	genome.wustl.edu	37	chr19	10445426	10445426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacccctcatgggcggtggGctcgctgaggttcacaatgg	6	8	16	11	2	2	1	2	1	0	0	3	2	2	2	2	6	0	3	2	6	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:10445426G>A	ENST00000160262.5	-	5	1178	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.P247S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	324					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TGGGCGGTGGGCTCGCTGAGG	0.657																																																	0													35	39	38					19																	10445426		2203	4300	6503	SO:0001583	missense	0				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.970C>T	19.37:g.10445426G>A	ENSP00000160262:p.Pro324Ser		Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.P324S	ENST00000160262.5	37	c.970	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541648	0.45280	.	.	ENSG00000076662	ENST00000160262	T	0.11169	2.8	5.14	-10.3	0.00346	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.956652	0.08606	N	0.920690	T	0.05914	0.0154	L	0.41124	1.26	0.09310	N	1	B	0.31100	0.308	B	0.29785	0.107	T	0.12426	-1.0548	10	0.49607	T	0.09	-2.0873	2.4918	0.04612	0.2708:0.4081:0.1774:0.1437	.	324	P32942	ICAM3_HUMAN	S	324	ENSP00000160262:P324S	ENSP00000160262:P324S	P	-	1	0	ICAM3	10306426	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.270000	0.08584	-2.671000	0.00414	-0.379000	0.06801	CCC	ICAM3	-	smart_Ig_sub	ENSG00000076662		0.657	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	-	0	33	0	G			10445426	-1	tier1	-	no_errors	ENST00000160262	ensembl	human	known	74_37	missense	15.38	21	4	SNP	0.000	A	A	10445426	G	A	10445426	3	1	1	1	0	0	0	0	1	0	0	0	7508	1203	42	3	685	3	ICAM3	19	10445426	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	44631	10445426	48683557	371	371											
TMED1	11018	genome.wustl.edu	37	chr19	10943821	10943821	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttgcggtcacgtgcctcGaaggcccgcagtagcgtgag	7	7	16	11	5	1	1	1	1	0	0	2	2	1	1	2	3	3	3	2	3	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:10943821G>A	ENST00000214869.2	-	4	632	c.534C>T	c.(532-534)ttC>ttT	p.F178F	TMED1_ENST00000591695.1_Missense_Mutation_p.S117L|TMED1_ENST00000588289.1_Silent_p.F33F	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	178					cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						CACGTGCCTCGAAGGCCCGCA	0.647																																																	0													63	58	60					19																	10943821		2203	4300	6503	SO:0001819	synonymous_variant	0			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"transmembrane emp24 domain containing 1"			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.534C>T	19.37:g.10943821G>A				Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD	p.S117L	ENST00000214869.2	37	c.350	CCDS12249.1	19																																																																																			TMED1	-	NULL	ENSG00000099203		0.647	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED1	HGNC	protein_coding	OTTHUMT00000452614.1	-	0	56	0	G	NM_006858		10943821	-1	tier1	-	no_errors	ENST00000591695	ensembl	human	putative	74_37	missense	45.45	18	15	SNP	0.099	A	A	10943821	G	A	10943821	2	1	1	1	0	0	0	0	0	0	0	1	16049	1049	37	1		1	TMED1	19	10943821	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	498395	10943821	48185162	372	372											
MAST1	1777	genome.wustl.edu	37	chr19	12984812	12984812	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcggacaagaagggcGcgctgcgcaaacacagcctc	11	4	14	12	4	0	2	0	1	0	1	1	3	0	3	1	2	4	2	1	2	3	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:12984812G>A	ENST00000222219.3	-	0	1955				MAST1_ENST00000251472.4_Missense_Mutation_p.A1281T|AC020934.1_ENST00000578125.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAAGAAGGGCGCGCTGCGCAA	0.677																																																	0													16	17	17					19																	12984812		2202	4300	6502	SO:0001628	intergenic_variant	0			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984812G>A			B2RD06|B7Z4K6|O43910	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A1281T	ENST00000222219.3	37	c.3841	CCDS12284.1	19	.	.	.	.	.	.	.	.	.	.	g	10.89	1.477043	0.26511	.	.	ENSG00000105613	ENST00000251472	T	0.67865	-0.29	4.83	4.83	0.62350	.	0.078589	0.51477	D	0.000082	T	0.51753	0.1693	L	0.29908	0.895	0.09310	N	0.999998	B	0.23650	0.089	B	0.17722	0.019	T	0.28427	-1.0044	10	0.15499	T	0.54	-15.5049	13.8083	0.63248	0.0:0.0:1.0:0.0	.	1281	Q9Y2H9	MAST1_HUMAN	T	1281	ENSP00000251472:A1281T	ENSP00000251472:A1281T	A	+	1	0	MAST1	12845812	0.001000	0.12720	0.760000	0.31359	0.925000	0.55904	0.821000	0.27338	2.402000	0.81655	0.552000	0.68991	GCG	MAST1	-	NULL	ENSG00000105613		0.677	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451790.1	-	0	66	0	G			12984812	1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	32.08	36	17	SNP	0.263	A	A	12984812	G	A	12984812	1	1	1	0	1	0	0	0	0	0	0	0	9362	1087	38	1		1	MAST1	19	12984812	IGR	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2040991	12984812	46144171	373	373											
CRTC1	23373	genome.wustl.edu	37	chr19	18885765	18885765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactatgagcagcagatggCggccaggcaggccaatgctc	10	6	14	11	1	0	2	0	1	0	1	1	2	0	2	2	4	4	5	2	4	3	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:18885765C>T	ENST00000321949.8	+	12	1507	c.1481C>T	c.(1480-1482)gCg>gTg	p.A494V	CRTC1_ENST00000594658.1_Missense_Mutation_p.A453V|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000338797.6_Missense_Mutation_p.A510V	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CAGCAGATGGCGGCCAGGCAG	0.672																																																	0													93	77	82					19																	18885765		2203	4300	6503	SO:0001583	missense	0			AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"transducer of regulated cAMP response element-binding protein"	607536	"mucoepidermoid carcinoma translocated 1"	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1481C>T	19.37:g.18885765C>T	ENSP00000323332:p.Ala494Val			Missense_Mutation	SNP	NULL	p.A510V	ENST00000321949.8	37	c.1529	CCDS32963.1	19	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666433	0.47677	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.16324	2.35;2.35	3.28	3.28	0.37604	.	0.733878	0.12779	N	0.439837	T	0.09158	0.0226	N	0.14661	0.345	0.31737	N	0.636345	P;B	0.41450	0.75;0.303	B;B	0.33521	0.165;0.079	T	0.07868	-1.0750	10	0.18276	T	0.48	-2.3381	13.6832	0.62499	0.0:1.0:0.0:0.0	.	510;494	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	V	510;494	ENSP00000345001:A510V;ENSP00000323332:A494V	ENSP00000323332:A494V	A	+	2	0	CRTC1	18746765	1.000000	0.71417	0.976000	0.42696	0.966000	0.64601	6.956000	0.76013	1.679000	0.50963	0.313000	0.20887	GCG	CRTC1	-	NULL	ENSG00000105662		0.672	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CRTC1	HGNC	protein_coding	OTTHUMT00000465151.3	-	0	53	0	C	NM_025021		18885765	1	tier1	-	no_errors	ENST00000338797	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.995	T	T	18885765	C	T	18885765	3	4	1	1	0	0	0	0	1	0	0	0	3906	768	27	1	1579	1	CRTC1	19	18885765	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	5900953	18885765	40243218	374	374											
GATAD2A	54815	genome.wustl.edu	37	chr19	19609470	19609470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcccagcgccgccaaCaacgagttcatctacctggt	8	9	8	16	3	2	0	1	0	1	0	3	1	3	0	5	1	5	1	5	1	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:19609470C>G	ENST00000360315.3	+	8	1455	c.1143C>G	c.(1141-1143)aaC>aaG	p.N381K	GATAD2A_ENST00000537887.1_Missense_Mutation_p.N9K|GATAD2A_ENST00000358713.3_Missense_Mutation_p.N381K|GATAD2A_ENST00000252577.5_Missense_Mutation_p.N381K|GATAD2A_ENST00000429563.2_Missense_Mutation_p.N208K|GATAD2A_ENST00000404158.1_Missense_Mutation_p.N381K	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	381	CR2; histone tail-binding.				anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GCGCCGCCAACAACGAGTTCA	0.637																																																	0													52	48	50					19																	19609470		2203	4300	6503	SO:0001583	missense	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1143C>G	19.37:g.19609470C>G	ENSP00000353463:p.Asn381Lys		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.N381K	ENST00000360315.3	37	c.1143	CCDS12402.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.077859|4.077859	0.76528|0.76528	.|.	.|.	ENSG00000167491|ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563|ENST00000418032	T;T;T;T|.	0.55760|.	0.94;0.97;0.94;0.5|.	5.65|5.65	-0.804|-0.804	0.10882|0.10882	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68238|0.68238	0.2979|0.2979	M|M	0.76574|0.76574	2.34|2.34	0.49798|0.49798	D|D	0.999827|0.999827	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.998;0.997|.	T|T	0.66693|0.66693	-0.5859|-0.5859	10|5	0.72032|.	D|.	0.01|.	-13.9611|-13.9611	10.0604|10.0604	0.42270|0.42270	0.0:0.5485:0.0:0.4515|0.0:0.5485:0.0:0.4515	.|.	208;400;381|.	B4DKZ7;B5MC40;Q86YP4|.	.;.;P66A_HUMAN|.	K|E	381;381;9;400;381;208|7	ENSP00000353463:N381K;ENSP00000252577:N381K;ENSP00000351552:N381K;ENSP00000388416:N208K|.	ENSP00000252577:N381K|.	N|Q	+|+	3|1	2|0	GATAD2A|GATAD2A	19470470|19470470	0.984000|0.984000	0.35163|0.35163	0.974000|0.974000	0.42286|0.42286	0.953000|0.953000	0.61014|0.61014	0.275000|0.275000	0.18698|0.18698	-0.009000|-0.009000	0.14296|0.14296	0.650000|0.650000	0.86243|0.86243	AAC|CAA	GATAD2A	-	NULL	ENSG00000167491		0.637	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	-	0	58	0	C	NM_017660		19609470	1	tier1	-	no_errors	ENST00000358713	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.998	G	G	19609470	C	G	19609470	3	3	1	1	0	0	0	0	1	0	0	0	6285	477	17	5	1169	5	GATAD2A	19	19609470	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	723705	19609470	39519513	375	375											
ZNF208	7757	genome.wustl.edu	37	chr19	22155989	22155989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagaccttactaaaggttTtgccacattcttcacatttg	10	16	6	9	0	2	1	1	1	1	1	2	2	2	1	2	1	2	1	2	1	3	8			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:22155989T>C	ENST00000397126.4	-	4	1995	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.368																																																	0													69	74	72					19																	22155989		2117	4243	6360	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1847A>G	19.37:g.22155989T>C	ENSP00000380315:p.Lys616Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K616R	ENST00000397126.4	37	c.1847	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	10.66	1.411402	0.25465	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26223	1.75	2.8	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40448	0.1117	.	.	.	0.27109	N	0.962417	D	0.67145	0.996	D	0.65010	0.931	T	0.17107	-1.0380	8	0.51188	T	0.08	.	6.417	0.21721	0.0:0.132:0.0:0.868	.	516	O43345	ZN208_HUMAN	R	616;516	ENSP00000380315:K616R	ENSP00000380315:K616R	K	-	2	0	ZNF208	21947829	0.997000	0.39634	0.173000	0.22940	0.100000	0.18952	3.103000	0.50298	0.069000	0.16605	0.254000	0.18369	AAA	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	108	0	T	NM_007153		22155989	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	30.26	53	23	SNP	0.997	C	C	22155989	T	C	22155989	3	2	1	1	0	0	0	0	1	0	0	0	17814	1841	64	4	1999	4	ZNF208	19	22155989	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	2546519	22155989	36972994	376	376											
GRAMD1A	57655	genome.wustl.edu	37	chr19	35512627	35512627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaggctgagaagctgtctCtggaggaaggcgggaaggat	11	6	17	7	1	1	1	0	1	1	1	2	6	1	5	1	6	1	2	1	6	4	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:35512627C>G	ENST00000317991.5	+	15	1804	c.1612C>G	c.(1612-1614)Ctg>Gtg	p.L538V	CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.L625V|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.L531V|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.L304V	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	538						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAAGCTGTCTCTGGAGGAAGG	0.697																																																	0													37	42	41					19																	35512627		1911	4116	6027	SO:0001583	missense	0			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.1612C>G	19.37:g.35512627C>G	ENSP00000441032:p.Leu538Val		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.L538V	ENST00000317991.5	37	c.1612	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392092	0.42410	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.21543	2.0;2.0;2.0	4.52	3.48	0.39840	.	0.641330	0.13860	N	0.357722	T	0.20455	0.0492	L	0.31065	0.9	0.28880	N	0.894435	P;P;P;P	0.51933	0.949;0.915;0.949;0.949	P;B;P;P	0.50570	0.549;0.347;0.644;0.549	T	0.04467	-1.0949	10	0.29301	T	0.29	.	8.079	0.30733	0.0:0.8887:0.0:0.1113	.	538;538;304;531	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	V	624;304;538;531	ENSP00000423728:L304V;ENSP00000441032:L538V;ENSP00000439267:L531V	ENSP00000441032:L538V	L	+	1	2	GRAMD1A	40204467	0.879000	0.30193	0.995000	0.50966	0.437000	0.31866	1.546000	0.36179	1.128000	0.42052	0.491000	0.48974	CTG	GRAMD1A	-	NULL	ENSG00000089351		0.697	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	-	0	53	0	C	NM_020895		35512627	1	tier1	-	no_errors	ENST00000317991	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	G	G	35512627	C	G	35512627	3	3	1	1	0	0	0	0	1	0	0	0	6774	912	32	5	1670	5	GRAMD1A	19	35512627	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	13356638	35512627	23616356	377	377											
ZNF585A	199704	genome.wustl.edu	37	chr19	37643680	37643680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctctccagtgtgaattCtctgatgaataatcaactct	10	16	6	9	0	4	3	1	3	3	0	7	3	5	3	1	0	1	1	1	0	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:37643680C>A	ENST00000356958.4	-	5	1379	c.1121G>T	c.(1120-1122)aGa>aTa	p.R374I	ZNF585A_ENST00000292841.5_Missense_Mutation_p.R319I|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R319I|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGTGAATTCTCTGATGAAT	0.418																																																	0													86	83	84					19																	37643680		2203	4298	6501	SO:0001583	missense	0			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1121G>T	19.37:g.37643680C>A	ENSP00000349440:p.Arg374Ile		Q8TE95|Q96MV3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R374I	ENST00000356958.4	37	c.1121		19	.	.	.	.	.	.	.	.	.	.	C	16.25	3.071060	0.55646	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.24908	1.83;1.83;1.83	2.83	1.74	0.24563	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40818	N	0.001006	T	0.29716	0.0742	L	0.37507	1.11	0.80722	D	1	D	0.61080	0.989	P	0.56563	0.801	T	0.02533	-1.1145	10	0.59425	D	0.04	.	8.793	0.34863	0.2271:0.7729:0.0:0.0	.	374	Q6P3V2	Z585A_HUMAN	I	374;319;319	ENSP00000349440:R374I;ENSP00000292841:R319I;ENSP00000375998:R319I	ENSP00000292841:R319I	R	-	2	0	ZNF585A	42335520	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.121000	0.15667	0.497000	0.27926	0.561000	0.74099	AGA	ZNF585A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196967		0.418	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	-	0	73	0	C	NM_152655		37643680	-1	tier1	-	no_errors	ENST00000356958	ensembl	human	known	74_37	missense	35.19	35	19	SNP	1.000	A	A	37643680	C	A	37643680	3	1	1	1	0	0	0	0	1	0	0	0	18065	913	32	3	1192	3	ZNF585A	19	37643680	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	2131053	37643680	21485303	378	378											
ZNF570	148268	genome.wustl.edu	37	chr19	37975066	37975066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccactgctttgtacacaaaAgataatccccaaagaggaga	16	7	7	11	0	0	3	0	0	0	3	1	4	1	3	3	1	2	2	3	1	5	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:37975066A>G	ENST00000330173.1	+	5	1071	c.542A>G	c.(541-543)aAg>aGg	p.K181R	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.K237R	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTACACAAAAGATAATCCCC	0.363																																																	0													107	120	116					19																	37975066		2202	4300	6502	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.542A>G	19.37:g.37975066A>G	ENSP00000331540:p.Lys181Arg		A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K181R	ENST00000330173.1	37	c.542	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	A	4.303	0.055569	0.08291	.	.	ENSG00000171827	ENST00000330173	T	0.04502	3.61	4.74	1.45	0.22620	.	3.155360	0.01121	N	0.005781	T	0.05227	0.0139	L	0.28556	0.865	0.58432	D	0.999999	B	0.12630	0.006	B	0.14023	0.01	T	0.27123	-1.0083	10	0.54805	T	0.06	.	4.2554	0.10715	0.5654:0.1677:0.2669:0.0	.	181	Q96NI8	ZN570_HUMAN	R	181	ENSP00000331540:K181R	ENSP00000331540:K181R	K	+	2	0	ZNF570	42666906	0.005000	0.15991	0.980000	0.43619	0.188000	0.23474	0.922000	0.28734	0.063000	0.16370	-0.370000	0.07254	AAG	ZNF570	-	NULL	ENSG00000171827		0.363	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0	30	0	A	NM_144694		37975066	1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.842	G	G	37975066	A	G	37975066	3	3	1	1	0	0	0	0	1	0	0	0	18050	72	3	4	556	4	ZNF570	19	37975066	Missense_Mutation	SNP	A	TCGA-2H-A9GF-01A-11D-A37C-09	331386	37975066	21153917	379	379											
AKT2	208	genome.wustl.edu	37	chr19	40761157	40761157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgggtcgcggcctctcGgtcttcatcagctggcattc	3	13	13	12	3	4	0	2	0	2	0	7	0	4	0	1	4	1	3	1	4	0	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:40761157G>A	ENST00000392038.2	-	4	493	c.195C>T	c.(193-195)acC>acT	p.T65T	AKT2_ENST00000579047.1_Silent_p.T3T|AKT2_ENST00000424901.1_Silent_p.T65T|AKT2_ENST00000311278.6_Silent_p.T65T	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	65	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GCGGCCTCTCGGTCTTCATCA	0.607			A		"ovarian, pancreatic "																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													111	108	109					19																	40761157		2203	4300	6503	SO:0001819	synonymous_variant	0			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.195C>T	19.37:g.40761157G>A			B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Nonsense_Mutation	SNP	NULL	p.R7*	ENST00000392038.2	37	c.19	CCDS12552.1	19																																																																																			AKT2	-	NULL	ENSG00000105221		0.607	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	-	0	37	0	G	NM_001626		40761157	-1	tier1	-	no_errors	ENST00000391844	ensembl	human	known	74_37	nonsense	27.59	21	8	SNP	0.029	A	A	40761157	G	A	40761157	2	1	1	1	0	0	0	0	0	0	0	1	480	1103	39	1		1	AKT2	19	40761157	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2786091	40761157	18367826	380	380											
SPTBN4	57731	genome.wustl.edu	37	chr19	41021258	41021258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaacagcctgatgggcCgcgttctggacgtgaaccac	10	7	13	11	3	1	4	0	3	1	1	1	5	1	5	3	2	3	1	3	2	2	1	rs373335509		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:41021258C>T	ENST00000352632.3	+	15	2892	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R936C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R936C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R936C|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R936C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	936					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGATGGGCCGCGTTCTGGA	0.567																																																	0								C	CYS/ARG	0,4406		0,0,2203	54	40	45		2806	4.3	1	19		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPTBN4	NM_020971.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	936/2565	41021258	1,13005	2203	4300	6503	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2806C>T	19.37:g.41021258C>T	ENSP00000263373:p.Arg936Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R936C	ENST00000352632.3	37	c.2806	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671695	0.67928	0.0	1.16E-4	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.55588	0.51;0.51;0.51	4.34	4.34	0.51931	.	0.365309	0.21082	N	0.080475	T	0.73016	0.3533	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.973;0.998	T	0.77584	-0.2533	10	0.87932	D	0	.	15.7914	0.78367	0.0:1.0:0.0:0.0	.	936;936	Q9H254;Q71S06	SPTN4_HUMAN;.	C	936	ENSP00000263373:R936C;ENSP00000340345:R936C;ENSP00000340741:R936C	ENSP00000340345:R936C	R	+	1	0	SPTBN4	45713098	0.023000	0.18921	0.998000	0.56505	0.972000	0.66771	0.230000	0.17852	2.256000	0.74724	0.491000	0.48974	CGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.567	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	65	0	C			41021258	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	T	T	41021258	C	T	41021258	3	4	1	1	0	0	0	0	1	0	0	0	15168	652	23	1	2860	1	SPTBN4	19	41021258	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	260101	41021258	18107725	381	381											
SPTBN4	57731	genome.wustl.edu	37	chr19	41060159	41060159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaggcagtgcgccGgggcctggagcagctgcaga	8	3	20	10	2	0	2	0	0	0	2	0	4	0	4	2	6	4	5	2	6	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:41060159G>A	ENST00000352632.3	+	23	4867	c.4781G>A	c.(4780-4782)cGg>cAg	p.R1594Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1594Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1594Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R270Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R337Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1594Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1594					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAGTGCGCCGGGGCCTGGAG	0.756																																																	0													4	4	4					19																	41060159		1936	3727	5663	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4781G>A	19.37:g.41060159G>A	ENSP00000263373:p.Arg1594Gln		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1594Q	ENST00000352632.3	37	c.4781	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280077	0.23392	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.0	2.9	0.33743	.	0.581435	0.16200	N	0.224985	T	0.08980	0.0222	N	0.02842	-0.48	0.24741	N	0.993036	B;B;B;B;P	0.35628	0.015;0.015;0.012;0.217;0.513	B;B;B;B;B	0.30179	0.005;0.007;0.002;0.019;0.112	T	0.12578	-1.0542	10	0.15066	T	0.55	.	3.911	0.09204	0.1255:0.0:0.4904:0.3841	.	337;337;270;1594;1594	Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;SPTN4_HUMAN;.	Q	1594;1594;1594;337;270	ENSP00000263373:R1594Q;ENSP00000340345:R1594Q;ENSP00000375879:R337Q;ENSP00000375877:R270Q	ENSP00000340345:R1594Q	R	+	2	0	SPTBN4	45751999	0.000000	0.05858	0.976000	0.42696	0.654000	0.38779	-0.994000	0.03716	2.057000	0.61298	0.484000	0.47621	CGG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.756	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0	11	0	G			41060159	1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	50.00	4	4	SNP	0.576	A	A	41060159	G	A	41060159	3	1	1	1	0	0	0	0	1	0	0	0	15168	1116	39	1	4867	1	SPTBN4	19	41060159	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	38901	41060159	18068824	382	382											
RPS11	6205	genome.wustl.edu	37	chr19	50002780	50002781	+	Frame_Shift_Ins	INS	-	-	CG																															ctccacagggacgtccagatINScggtgacatcgtcacagtgg																								rs145559297		TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:50002780_50002781insCG	ENST00000270625.2	+	5	448_449	c.365_366insCG	c.(364-369)atcggtfs	p.G123fs	RPS11_ENST00000599561.1_Frame_Shift_Ins_p.R88fs|SNORD35B_ENST00000363660.1_RNA|MIR150_ENST00000385048.1_RNA|hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000594493.1_Frame_Shift_Ins_p.G44fs	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	123					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GACGTCCAGATCGGTGACATCG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"S ribosomal proteins"	10384	protein-coding gene	gene with protein product	"40S ribosomal protein S11"	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.366_367dupCG	19.37:g.50002781_50002782dupCG	ENSP00000270625:p.Gly123fs		B2R4F5|P04643|Q498Y6|Q6IRY0	Frame_Shift_Ins	INS	pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ	p.G123fs	ENST00000270625.2	37	c.365_366	CCDS12769.1	19																																																																																			RPS11	-	pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ	ENSG00000142534		0.639	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS11	HGNC	protein_coding	OTTHUMT00000465288.1		0	45	0	-	NM_001015		50002781	1	tier1		no_errors	ENST00000270625	ensembl	human	known	74_37	frame_shift_ins	26.47	25	9	INS	1.000:0.883	CG	CG	50002781	-	CG	50002780	7	5	1	1	0	1	1	0	0	0	0	0	13666	1435	50	0	383	0	RPS11	19	50002780	Frame_Shift_Ins	INS	-	TCGA-2H-A9GF-01A-11D-A37C-09	8942621	50002780	9126203	383	383											
PRKCG	5582	genome.wustl.edu	37	chr19	54409689	54409689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaacgattggagatccCgcctcctttcagaccccgcc	7	8	10	16	3	1	2	1	0	0	2	3	5	3	3	6	2	1	1	6	2	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:54409689C>T	ENST00000263431.3	+	17	2165	c.1883C>T	c.(1882-1884)cCg>cTg	p.P628L	CACNG7_ENST00000391767.1_5'Flank|PRKCG_ENST00000542049.1_Missense_Mutation_p.P479L|PRKCG_ENST00000540413.1_Missense_Mutation_p.P628L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	628	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TTGGAGATCCCGCCTCCTTTC	0.607											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42	31	35					19																	54409689		2196	4285	6481	SO:0001583	missense	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1883C>T	19.37:g.54409689C>T	ENSP00000263431:p.Pro628Leu	1000	B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P628L	ENST00000263431.3	37	c.1883	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434029	0.43224	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.51325	0.71;0.71;1.88	3.89	3.89	0.44902	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.43765	0.1262	L	0.46157	1.445	0.30355	N	0.784414	B;B;B	0.26672	0.043;0.156;0.028	B;B;B	0.25987	0.008;0.065;0.018	T	0.52525	-0.8564	9	0.87932	D	0	.	13.7717	0.63029	0.0:1.0:0.0:0.0	.	479;628;628	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	L	628;628;479	ENSP00000443493:P628L;ENSP00000263431:P628L;ENSP00000438090:P479L	ENSP00000263431:P628L	P	+	2	0	PRKCG	59101501	0.000000	0.05858	0.953000	0.39169	0.921000	0.55340	0.640000	0.24705	2.187000	0.69744	0.555000	0.69702	CCG	PRKCG	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g	ENSG00000126583		0.607	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	-	0	32	0	C	NM_002739		54409689	1	tier1	-	no_errors	ENST00000540413	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.703	T	T	54409689	C	T	54409689	3	4	1	1	0	0	0	0	1	0	0	0	12554	652	23	1	1949	1	PRKCG	19	54409689	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	4406909	54409689	4719294	384	384											
ZNF419	79744	genome.wustl.edu	37	chr19	58005060	58005060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcagcgactgtgggaaaTtttttacccaatgctcaagc	11	11	10	9	1	1	0	1	0	0	0	1	2	1	1	1	1	5	2	1	1	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:58005060T>G	ENST00000221735.7	+	5	1321	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	ZNF419_ENST00000442920.2_Missense_Mutation_p.F366V|ZNF419_ENST00000424930.2_Missense_Mutation_p.F380V|ZNF419_ENST00000347466.6_Missense_Mutation_p.F347V|ZNF419_ENST00000354197.4_Missense_Mutation_p.F367V|ZNF419_ENST00000415379.2_Missense_Mutation_p.F333V|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000426954.2_Missense_Mutation_p.F367V			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CTGTGGGAAATTTTTTACCCA	0.408																																																	0													81	85	84					19																	58005060		2200	4297	6497	SO:0001583	missense	0			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"Zinc fingers, C2H2-type", "-"	20648	protein-coding gene	gene with protein product			"zinc finger protein 419A"	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1135T>G	19.37:g.58005060T>G	ENSP00000221735:p.Phe379Val		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F380V	ENST00000221735.7	37	c.1138	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	T	10.63	1.405079	0.25378	.	.	ENSG00000105136	ENST00000284020;ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000517598;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.16743	3.25;3.25;3.25;3.25;3.25;2.32;3.25	2.26	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14614	0.0353	N	0.02539	-0.55	0.23454	N	0.997643	D;D;D;D;B;D;B	0.69078	0.985;0.991;0.997;0.991;0.292;0.996;0.292	D;D;D;D;B;D;B	0.79108	0.966;0.982;0.992;0.988;0.071;0.986;0.071	T	0.25222	-1.0138	9	0.38643	T	0.18	.	7.3178	0.26511	0.0:0.0:0.2246:0.7754	.	333;333;366;367;380;347;379	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	V	354;380;367;367;366;380;347;333;379	ENSP00000388864:F380V;ENSP00000390916:F367V;ENSP00000346136:F367V;ENSP00000414709:F366V;ENSP00000299860:F347V;ENSP00000392129:F333V;ENSP00000221735:F379V	ENSP00000221735:F379V	F	+	1	0	ZNF419	62696872	0.000000	0.05858	0.044000	0.18714	0.111000	0.19643	-1.253000	0.02877	0.101000	0.17610	0.260000	0.18958	TTT	ZNF419	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105136		0.408	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	-	0	92	0	T	NM_024691		58005060	1	tier1	-	no_errors	ENST00000424930	ensembl	human	known	74_37	missense	27.63	55	21	SNP	0.743	G	G	58005060	T	G	58005060	3	3	1	1	0	0	0	0	1	0	0	0	17944	1493	52	4	1156	4	ZNF419	19	58005060	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	3595371	58005060	1123923	385	385											
ZSCAN18	65982	genome.wustl.edu	37	chr19	58596076	58596076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgcctctgggggtgcGgggggagcctcgccctccac	2	7	16	16	3	2	0	0	0	2	0	4	1	3	1	4	5	3	0	4	5	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:58596076G>A	ENST00000240727.6	-	7	1908	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	ZSCAN18_ENST00000600404.1_Silent_p.P559P|ZSCAN18_ENST00000601144.1_Silent_p.P503P|ZSCAN18_ENST00000421612.2_Silent_p.P367P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	503					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGGGGGTGCGGGGGGAGCCT	0.756																																																	0													5	6	5					19																	58596076		1843	3898	5741	SO:0001819	synonymous_variant	0			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1509C>T	19.37:g.58596076G>A			B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P559	ENST00000240727.6	37	c.1677	CCDS12971.1	19																																																																																			ZSCAN18	-	NULL	ENSG00000121413		0.756	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1		0	15	0	G	NM_023926		58596076	-1			no_errors	ENST00000600404	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.041	A	A	58596076	G	A	58596076	2	1	1	1	0	0	0	0	0	0	0	1	18278	1103	39	1		1	ZSCAN18	19	58596076	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	591016	58596076	532907	386	386											
ZNF446	55663	genome.wustl.edu	37	chr19	58989057	58989057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcccagaagacagaGgaaccacttgggagccccca	12	3	11	15	0	0	3	0	0	0	3	0	5	0	5	5	2	4	1	5	2	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr19:58989057G>T	ENST00000594369.1	+	3	777	c.396G>T	c.(394-396)gaG>gaT	p.E132D	CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000335841.4_Missense_Mutation_p.E132D|ZNF446_ENST00000596341.1_Missense_Mutation_p.E132D	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	132					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGAAGACAGAGGAACCACTTG	0.607																																																	0													51	55	54					19																	58989057		2203	4300	6503	SO:0001583	missense	0				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.396G>T	19.37:g.58989057G>T	ENSP00000472802:p.Glu132Asp			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E132D	ENST00000594369.1	37	c.396	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756575	0.31137	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000539679	T	0.05447	3.44	4.52	2.19	0.27852	Transcription regulator SCAN (1);	0.636872	0.12464	N	0.466599	T	0.08223	0.0205	N	0.24115	0.695	0.27756	N	0.944005	D;D;D	0.69078	0.997;0.996;0.985	P;P;P	0.59012	0.85;0.82;0.637	T	0.31641	-0.9936	10	0.22109	T	0.4	-28.4434	5.4696	0.16662	0.1105:0.2053:0.6843:0.0	.	132;132;132	F5H201;Q96AF5;Q9NWS9	.;.;ZN446_HUMAN	D	132	ENSP00000336565:E132D	ENSP00000336565:E132D	E	+	3	2	ZNF446	63680869	0.130000	0.22417	0.705000	0.30386	0.074000	0.17049	0.229000	0.17833	1.209000	0.43321	0.491000	0.48974	GAG	ZNF446	-	smart_Tscrpt_reg_SCAN	ENSG00000083838		0.607	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	-	0	51	0	G	NM_017908		58989057	1	tier1	-	no_errors	ENST00000594369	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.206	T	T	58989057	G	T	58989057	3	4	1	1	0	0	0	0	1	0	0	0	17967	991	35	3	402	3	ZNF446	19	58989057	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	392981	58989057	139926	387	387											
SNPH	9751	genome.wustl.edu	37	chr20	1285832	1285832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggtgggtcccctgccCgctccctcacccgcagctcc	3	6	10	22	3	1	0	1	0	0	0	4	0	4	0	7	2	3	3	7	2	0	0	rs151237144	byFrequency	TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:1285832C>T	ENST00000381873.3	+	6	855	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	SNPH_ENST00000381867.1_Missense_Mutation_p.R251C	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	207					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCCCCTGCCCGCTCCCTCAC	0.657													C|||	3	0.000599042	8e-04	0.0014	5008	,	,		17719	0		0.001	False		,,,				2504	0																0								C	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	41	36	38		619	4.8	1	20	dbSNP_134	38	0,8600		0,0,4300	yes	missense	SNPH	NM_014723.2	180	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	207/495	1285832	1,13003	2202	4300	6502	SO:0001583	missense	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.619C>T	20.37:g.1285832C>T	ENSP00000371297:p.Arg207Cys		Q8IYI3	Missense_Mutation	SNP	NULL	p.R251C	ENST00000381873.3	37	c.751	CCDS13012.1	20	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553920	0.65425	2.27E-4	0.0	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	4.75	0.60458	.	0.070004	0.56097	D	0.000021	T	0.67618	0.2912	L	0.43152	1.355	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74023	0.966;0.982	T	0.70226	-0.4930	9	0.87932	D	0	-27.2168	13.3165	0.60409	0.0:0.8411:0.1589:0.0	.	251;207	O15079-2;O15079	.;SNPH_HUMAN	C	207;251	.	ENSP00000371291:R251C	R	+	1	0	SNPH	1233832	0.962000	0.33011	1.000000	0.80357	0.936000	0.57629	2.271000	0.43364	2.479000	0.83701	0.561000	0.74099	CGC	SNPH	-	NULL	ENSG00000101298		0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2	-	0	19	0	C	NM_014723		1285832	1	tier1	rs151237144	no_errors	ENST00000381867	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T	T	1285832	C	T	1285832	3	4	1	1	0	0	0	0	1	0	0	0	14895	652	23	1	633	1	SNPH	20	1285832	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		1285832	61739688	388	388											
ADRA1D	146	genome.wustl.edu	37	chr20	4202294	4202294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgagcgctgggcgcacGctgcctctgcgcgctgcgcg	2	7	15	17	7	2	1	0	1	2	0	2	1	2	1	2	1	4	4	2	1	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:4202294G>A	ENST00000379453.4	-	2	1711	c.1595C>T	c.(1594-1596)gCg>gTg	p.A532V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	532				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTGGGCGCACGCTGCCTCTGC	0.711																																																	0													19	22	21					20																	4202294		2193	4276	6469	SO:0001583	missense	0			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1595C>T	20.37:g.4202294G>A	ENSP00000368766:p.Ala532Val		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM	p.A532V	ENST00000379453.4	37	c.1595	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124683	0.37533	.	.	ENSG00000171873	ENST00000379453	T	0.63096	-0.02	3.23	2.27	0.28462	.	11.930200	0.00541	U	0.000227	T	0.51210	0.1661	L	0.36672	1.1	0.09310	N	1	P	0.36768	0.569	B	0.26202	0.067	T	0.48151	-0.9060	10	0.54805	T	0.06	.	8.4031	0.32599	0.1235:0.0:0.8765:0.0	.	532	P25100	ADA1D_HUMAN	V	532	ENSP00000368766:A532V	ENSP00000368766:A532V	A	-	2	0	ADRA1D	4150294	0.010000	0.17322	0.001000	0.08648	0.494000	0.33585	1.696000	0.37773	0.662000	0.31006	0.305000	0.20034	GCG	ADRA1D	-	prints_ADRA1D_rcpt	ENSG00000171873		0.711	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2	-	0	37	0	G	NM_000678		4202294	-1	tier1	-	no_errors	ENST00000379453	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.006	A	A	4202294	G	A	4202294	3	1	1	1	0	0	0	0	1	0	0	0	336	1087	38	1	127	1	ADRA1D	20	4202294	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2916462	4202294	58823226	389	389											
FLRT3	23767	genome.wustl.edu	37	chr20	14306834	14306834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatggcccagtttaagcCagctgagtctcaaagcagtc	10	9	11	11	0	1	1	1	1	1	0	3	1	1	1	2	2	3	4	2	2	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:14306834C>A	ENST00000378053.3	-	2	1575	c.1319G>T	c.(1318-1320)tGg>tTg	p.W440L	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Missense_Mutation_p.W440L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	440	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTTTAAGCCAGCTGAGTCT	0.438																																																	0													81	81	81					20																	14306834		2203	4300	6503	SO:0001583	missense	0			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1319G>T	20.37:g.14306834C>A	ENSP00000367292:p.Trp440Leu		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.W440L	ENST00000378053.3	37	c.1319	CCDS13121.1	20	.	.	.	.	.	.	.	.	.	.	C	16.12	3.031754	0.54790	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.39997	1.05;1.05	5.96	5.96	0.96718	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63042	-0.6725	10	0.56958	D	0.05	-5.0883	20.4043	0.99006	0.0:1.0:0.0:0.0	.	440	Q9NZU0	FLRT3_HUMAN	L	440	ENSP00000367292:W440L;ENSP00000339912:W440L	ENSP00000339912:W440L	W	-	2	0	FLRT3	14254834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.920000	0.70017	2.823000	0.97156	0.650000	0.86243	TGG	FLRT3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000125848		0.438	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	HGNC	protein_coding	OTTHUMT00000078075.1	-	0	21	0	C	NM_013281		14306834	-1	tier1	-	no_errors	ENST00000341420	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	A	A	14306834	C	A	14306834	3	1	1	1	0	0	0	0	1	0	0	0	5962	595	21	3	634	3	FLRT3	20	14306834	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	10104540	14306834	48718686	390	390											
XRN2	22803	genome.wustl.edu	37	chr20	21367540	21367540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctgctcccatggaacCggatgctgcaaacccagaat	12	7	8	14	1	1	1	0	0	1	1	2	3	2	3	4	2	6	3	4	2	4	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:21367540C>T	ENST00000377191.3	+	29	2778	c.2683C>T	c.(2683-2685)Cgg>Tgg	p.R895W	XRN2_ENST00000539513.1_Missense_Mutation_p.R841W|XRN2_ENST00000430571.2_Missense_Mutation_p.R819W	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	895					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCCATGGAACCGGATGCTGCA	0.532																																																	0													118	116	117					20																	21367540		2203	4300	6503	SO:0001583	missense	0			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2683C>T	20.37:g.21367540C>T	ENSP00000366396:p.Arg895Trp		Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.R895W	ENST00000377191.3	37	c.2683	CCDS13144.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982240	0.74474	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.33438	1.42;1.42;1.41	6.17	4.18	0.49190	.	0.125415	0.51477	D	0.000091	T	0.41465	0.1160	L	0.27053	0.805	0.45452	D	0.998424	D	0.89917	1.0	D	0.71414	0.973	T	0.34104	-0.9842	10	0.66056	D	0.02	-15.5136	14.1117	0.65126	0.274:0.726:0.0:0.0	.	895	Q9H0D6	XRN2_HUMAN	W	895;819;841	ENSP00000366396:R895W;ENSP00000413548:R819W;ENSP00000441113:R841W	ENSP00000366396:R895W	R	+	1	2	XRN2	21315540	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.830000	0.55768	0.873000	0.35799	-0.181000	0.13052	CGG	XRN2	-	pirsf_5_3_exoribonuclease_2	ENSG00000088930		0.532	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2		0	50	0	C	NM_012255		21367540	1			no_errors	ENST00000377191	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	21367540	C	T	21367540	3	4	1	1	0	0	0	0	1	0	0	0	17509	643	23	1	2797	1	XRN2	20	21367540	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7060706	21367540	41657980	391	391											
TMEM90B	79953	genome.wustl.edu	37	chr20	24523764	24523764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattgaacagaagagcatgCtggtgcacagtaaaatcagt	15	9	10	7	0	2	3	2	1	0	2	2	3	2	3	0	1	4	4	0	1	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:24523764C>T	ENST00000376862.3	+	2	664	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	11					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GAAGAGCATGCTGGTGCACAG	0.512																																																	0													93	89	90					20																	24523764		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.31C>T	20.37:g.24523764C>T			Q6IA30|Q9H514	Silent	SNP	pfam_CD225/Dispanin_fam	p.L11	ENST00000376862.3	37	c.31	CCDS13164.1	20																																																																																			SYNDIG1	-	NULL	ENSG00000101463		0.512	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0	52	0	C	NM_024893		24523764	1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.724	T	T	24523764	C	T	24523764	2	4	1	1	0	0	0	0	0	0	0	1	16266	796	28	3		3	TMEM90B	20	24523764	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	3156224	24523764	38501756	392	392											
ZNF341	84905	genome.wustl.edu	37	chr20	32346608	32346608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctgcagcagcacatcCgaaggtacacatgcgtggtg	10	8	12	11	2	0	1	0	1	0	0	1	2	1	1	2	2	5	4	2	2	2	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:32346608C>T	ENST00000375200.1	+	7	1389	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.R335*	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCAGCACATCCGAAGGTACAC	0.552																																																	0													78	63	68					20																	32346608		2203	4300	6503	SO:0001587	stop_gained	0			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"Zinc fingers, C2H2-type"	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1024C>T	20.37:g.32346608C>T	ENSP00000364346:p.Arg342*		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R342*	ENST00000375200.1	37	c.1024		20	.	.	.	.	.	.	.	.	.	.	C	41	8.792194	0.98956	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	.	.	.	5.62	4.67	0.58626	.	0.064020	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8475	13.2142	0.59849	0.4317:0.5683:0.0:0.0	.	.	.	.	X	335;342	.	ENSP00000344308:R335X	R	+	1	2	ZNF341	31810269	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.347000	0.52200	1.503000	0.48686	0.561000	0.74099	CGA	ZNF341	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131061		0.552	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		-	0	29	0	C			32346608	1	tier1	-	no_errors	ENST00000375200	ensembl	human	known	74_37	nonsense	18.18	27	6	SNP	1.000	T	T	32346608	C	T	32346608	4	4	1	1	0	0	0	0	0	1	0	0	17905	644	23	1	1029	1	ZNF341	20	32346608	Nonsense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	7822844	32346608	30678912	393	393											
ZNF217	7764	genome.wustl.edu	37	chr20	52193535	52193535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgctggtgagaggacagCgctgcccagaacattctgaa	10	8	14	9	1	1	3	0	2	1	2	1	5	1	4	1	2	4	2	1	2	2	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:52193535C>T	ENST00000371471.2	-	4	2193	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.A590T			O75362	ZN217_HUMAN	zinc finger protein 217	590					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A590T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGAGGACAGCGCTGCCCAGA	0.433																																																	2	Substitution - Missense(2)	lung(2)											127	119	122					20																	52193535		2203	4300	6503	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1768G>A	20.37:g.52193535C>T	ENSP00000360526:p.Ala590Thr		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A590T	ENST00000371471.2	37	c.1768	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	3.390	-0.124428	0.06795	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.07688	3.17;3.17	5.03	-6.71	0.01760	.	1.939460	0.01953	N	0.042778	T	0.02342	0.0072	N	0.02736	-0.51	0.09310	N	1	B	0.18166	0.026	B	0.06405	0.002	T	0.35400	-0.9790	10	0.02654	T	1	-0.1005	3.1965	0.06635	0.0991:0.212:0.1966:0.4924	.	590	O75362	ZN217_HUMAN	T	590	ENSP00000360526:A590T;ENSP00000304308:A590T	ENSP00000304308:A590T	A	-	1	0	ZNF217	51626942	0.000000	0.05858	0.011000	0.14972	0.983000	0.72400	-1.585000	0.02112	-1.407000	0.02043	0.555000	0.69702	GCT	ZNF217	-	NULL	ENSG00000171940		0.433	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	-	0	70	0	C	NM_006526		52193535	-1	tier1	-	no_errors	ENST00000302342	ensembl	human	known	74_37	missense	25.53	70	24	SNP	0.000	T	T	52193535	C	T	52193535	3	4	1	1	0	0	0	0	1	0	0	0	17820	768	27	1	1386	1	ZNF217	20	52193535	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	19846927	52193535	10831985	394	394											
CASS4	57091	genome.wustl.edu	37	chr20	55027468	55027468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctagcatcgtttcctcGtgctccaccacatccaccga	9	9	7	16	3	0	1	0	0	0	1	5	2	3	1	5	0	3	4	5	0	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:55027468G>A	ENST00000360314.3	+	6	1461	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	CASS4_ENST00000371336.3_Silent_p.S412S|CASS4_ENST00000434344.1_Intron	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	412	Ser-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCGTTTCCTCGTGCTCCACCA	0.542																																																	0													55	45	48					20																	55027468		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1236G>A	20.37:g.55027468G>A			E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S412	ENST00000360314.3	37	c.1236	CCDS33492.1	20																																																																																			CASS4	-	NULL	ENSG00000087589		0.542	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	-	0	13	0	G	NM_020356		55027468	1	tier1	-	no_errors	ENST00000360314	ensembl	human	known	74_37	silent	55.56	8	10	SNP	0.000	A	A	55027468	G	A	55027468	2	1	1	1	0	0	0	0	0	0	0	1	2690	1132	40	1		1	CASS4	20	55027468	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	2833933	55027468	7998052	395	395											
PMEPA1	56937	genome.wustl.edu	37	chr20	56227338	56227338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacgtggcgctgatgcccGagttactgctgggggggcag	6	7	18	10	3	0	1	0	1	0	0	0	2	0	1	1	4	4	5	1	4	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:56227338G>A	ENST00000341744.3	-	4	954	c.635C>T	c.(634-636)tCg>tTg	p.S212L	PMEPA1_ENST00000395814.1_Missense_Mutation_p.S162L|PMEPA1_ENST00000347215.4_Missense_Mutation_p.S177L|PMEPA1_ENST00000265626.4_Missense_Mutation_p.S162L|PMEPA1_ENST00000395816.3_Missense_Mutation_p.S162L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	212					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GCTGATGCCCGAGTTACTGCT	0.687																																																	0													26	30	28					20																	56227338		2202	4298	6500	SO:0001583	missense	0			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"solid tumor-associated 1"	606564	"transmembrane, prostate androgen induced RNA"	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.635C>T	20.37:g.56227338G>A	ENSP00000345826:p.Ser212Leu		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	NULL	p.S212L	ENST00000341744.3	37	c.635	CCDS13463.1	20	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043705	0.93685	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037	T;T;T;T;T;T	0.59502	0.26;0.33;0.33;0.33;0.33;0.4	5.53	4.57	0.56435	.	0.148152	0.46442	D	0.000281	T	0.75700	0.3885	M	0.77313	2.365	0.54753	D	0.999988	D;D	0.89917	1.0;0.997	D;P	0.67900	0.954;0.886	T	0.80238	-0.1465	10	0.87932	D	0	-19.0115	16.4181	0.83750	0.0:0.1317:0.8683:0.0	.	177;212	Q5JY37;Q969W9	.;PMEPA_HUMAN	L	212;177;162;162;162;184	ENSP00000345826:S212L;ENSP00000344014:S177L;ENSP00000379161:S162L;ENSP00000265626:S162L;ENSP00000379159:S162L;ENSP00000401506:S184L	ENSP00000265626:S162L	S	-	2	0	PMEPA1	55660744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.394000	0.79862	1.311000	0.45024	0.650000	0.86243	TCG	PMEPA1	-	NULL	ENSG00000124225		0.687	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2	-	0	39	0	G	NM_020182		56227338	-1	tier1	-	no_errors	ENST00000341744	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	A	A	56227338	G	A	56227338	3	1	1	1	0	0	0	0	1	0	0	0	12171	1059	37	1	232	1	PMEPA1	20	56227338	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1199870	56227338	6798182	396	396											
APCDD1L	164284	genome.wustl.edu	37	chr20	57036333	57036333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaccctggtggatggcGtgcccctggtgtagcggccg	3	7	18	13	5	0	0	0	0	0	0	0	2	0	2	4	6	2	1	4	6	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:57036333G>A	ENST00000371149.3	-	4	1249	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.T351M	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	340						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GGTGGATGGCGTGCCCCTGGT	0.662																																																	0													31	31	31					20																	57036333		2201	4299	6500	SO:0001583	missense	0			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.1019C>T	20.37:g.57036333G>A	ENSP00000360191:p.Thr340Met			Missense_Mutation	SNP	NULL	p.T351M	ENST00000371149.3	37	c.1052	CCDS13467.1	20	.	.	.	.	.	.	.	.	.	.	G	9.834	1.189173	0.21954	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17691	2.26;2.26	4.36	-2.54	0.06307	.	0.824143	0.11405	N	0.567434	T	0.29588	0.0738	M	0.72118	2.19	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.60949	0.881;0.784	T	0.11916	-1.0568	10	0.45353	T	0.12	-7.3152	6.8235	0.23870	0.463:0.1192:0.4179:0.0	.	351;340	F5H6V6;Q8NCL9	.;APCDL_HUMAN	M	340;351	ENSP00000360191:T340M;ENSP00000413261:T351M	ENSP00000360191:T340M	T	-	2	0	APCDD1L	56469739	0.001000	0.12720	0.031000	0.17742	0.028000	0.11728	-0.201000	0.09464	-0.571000	0.06014	-0.986000	0.02555	ACG	APCDD1L	-	NULL	ENSG00000198768		0.662	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APCDD1L	HGNC	protein_coding	OTTHUMT00000079881.2	-	0	72	0	G	NM_153360		57036333	-1	tier1	-	no_errors	ENST00000439429	ensembl	human	known	74_37	missense	41.98	47	34	SNP	0.011	A	A	57036333	G	A	57036333	3	1	1	1	0	0	0	0	1	0	0	0	766	1145	40	1	490	1	APCDD1L	20	57036333	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	808995	57036333	5989187	397	397											
LAMA5	3911	genome.wustl.edu	37	chr20	60892800	60892800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcagagtggcctgcaggGtggcattgtcccgggacagc	7	7	16	11	1	0	1	0	0	0	1	1	2	1	2	2	4	3	3	2	4	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:60892800G>T	ENST00000252999.3	-	54	7340	c.7274C>A	c.(7273-7275)aCc>aAc	p.T2425N		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2425	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCTGCAGGGTGGCATTGTC	0.587																																																	0													41	38	39					20																	60892800		2185	4278	6463	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7274C>A	20.37:g.60892800G>T	ENSP00000252999:p.Thr2425Asn		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T2425N	ENST00000252999.3	37	c.7274	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	10.53	1.375541	0.24857	.	.	ENSG00000130702	ENST00000252999	T	0.09911	2.93	3.68	3.68	0.42216	Laminin I (1);	0.392430	0.25369	U	0.031172	T	0.18341	0.0440	L	0.50333	1.59	0.19575	N	0.999965	D	0.71674	0.998	D	0.63113	0.911	T	0.08046	-1.0741	10	0.17832	T	0.49	.	7.2758	0.26283	0.1279:0.0:0.8721:0.0	.	2425	O15230	LAMA5_HUMAN	N	2425	ENSP00000252999:T2425N	ENSP00000252999:T2425N	T	-	2	0	LAMA5	60326195	0.364000	0.24997	0.712000	0.30502	0.211000	0.24417	3.001000	0.49488	1.615000	0.50252	0.436000	0.28706	ACC	LAMA5	-	pfam_Laminin_I	ENSG00000130702		0.587	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	66	0	G	NM_005560		60892800	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.015	T	T	60892800	G	T	60892800	3	4	1	1	0	0	0	0	1	0	0	0	8637	1261	44	3	3921	3	LAMA5	20	60892800	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3856467	60892800	2132720	398	398											
NPBWR2	2832	genome.wustl.edu	37	chr20	62737688	62737688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagccagacacacaggctgGcgaccttcgccccccggtag	8	4	11	18	3	0	1	0	0	0	1	1	2	0	1	6	3	1	2	6	3	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr20:62737688G>A	ENST00000369768.1	-	1	836	c.497C>T	c.(496-498)gCc>gTc	p.A166V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ACACAGGCTGGCGACCTTCGC	0.647																																																	0													23	25	24					20																	62737688		2195	4287	6482	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.497C>T	20.37:g.62737688G>A	ENSP00000358783:p.Ala166Val		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.A166V	ENST00000369768.1	37	c.497	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.725266	0.00694	.	.	ENSG00000125522	ENST00000369768	T	0.35421	1.31	3.9	0.68	0.17980	GPCR, rhodopsin-like superfamily (1);	0.391333	0.22884	U	0.054467	T	0.09642	0.0237	N	0.01431	-0.87	0.19775	N	0.999956	B	0.02656	0.0	B	0.06405	0.002	T	0.35992	-0.9766	10	0.05721	T	0.95	.	6.4791	0.22053	0.5694:0.0:0.4306:0.0	.	166	P48146	NPBW2_HUMAN	V	166	ENSP00000358783:A166V	ENSP00000358783:A166V	A	-	2	0	NPBWR2	62208132	0.999000	0.42202	0.055000	0.19348	0.007000	0.05969	3.839000	0.55835	0.116000	0.18110	-0.424000	0.05967	GCC	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn	ENSG00000125522		0.647	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0	42	0	G	NM_005286		62737688	-1	tier1	-	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.801	A	A	62737688	G	A	62737688	3	1	1	1	0	0	0	0	1	0	0	0	10608	1203	42	3	507	3	NPBWR2	20	62737688	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1844888	62737688	287832	399	399											
UMODL1	89766	genome.wustl.edu	37	chr21	43524107	43524107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgtgcaggaccccgggtttCccatgggcatctccacgctg	5	8	12	16	3	1	0	0	0	1	0	3	1	2	1	5	3	1	4	5	3	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr21:43524107C>T	ENST00000408910.2	+	9	1429	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	UMODL1_ENST00000408989.2_Missense_Mutation_p.P477S|C21orf128_ENST00000329015.2_Silent_p.G42G|UMODL1_ENST00000400427.1_Missense_Mutation_p.P405S|UMODL1_ENST00000400424.2_Missense_Mutation_p.P405S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	477	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCGGGTTTCCCATGGGCAT	0.607																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													126	123	124					21																	43524107		2203	4300	6503	SO:0001583	missense	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1429C>T	21.37:g.43524107C>T	ENSP00000386147:p.Pro477Ser		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.P477S	ENST00000408910.2	37	c.1429	CCDS42936.1	21	.	.	.	.	.	.	.	.	.	.	C	9.627	1.135482	0.21123	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.37058	1.22;1.22;1.22;1.22	3.49	1.62	0.23740	SEA (1);	0.301359	0.23243	N	0.050323	T	0.34600	0.0903	L	0.41824	1.3	0.09310	N	0.999996	P;P;B	0.48764	0.915;0.754;0.234	P;P;B	0.51193	0.662;0.621;0.3	T	0.09930	-1.0652	10	0.38643	T	0.18	-4.4818	7.716	0.28704	0.0:0.786:0.0:0.214	.	405;477;477	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	S	405;405;477;477	ENSP00000383279:P405S;ENSP00000383276:P405S;ENSP00000386126:P477S;ENSP00000386147:P477S	ENSP00000383276:P405S	P	+	1	0	UMODL1	42397176	0.057000	0.20700	0.001000	0.08648	0.006000	0.05464	1.483000	0.35497	0.442000	0.26555	0.655000	0.94253	CCC	UMODL1	-	pfam_SEA_dom	ENSG00000177398		0.607	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	-	0	37	0	C			43524107	1	tier1	-	no_errors	ENST00000408989	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.005	T	T	43524107	C	T	43524107	3	4	1	1	0	0	0	0	1	0	0	0	17029	855	30	3	1463	3	UMODL1	21	43524107	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		43524107	4605788	400	400											
WDR4	10785	genome.wustl.edu	37	chr21	44283655	44283655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgtcggccaccaagacCttctcctccgaggctatgaa	9	9	9	14	2	1	2	0	1	1	1	4	4	2	2	5	2	0	1	5	2	3	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr21:44283655C>T	ENST00000398208.2	-	4	407	c.348G>A	c.(346-348)aaG>aaA	p.K116K	WDR4_ENST00000330317.2_Silent_p.K116K|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCACCAAGACCTTCTCCTCCG	0.587																																																	0													131	113	119					21																	44283655		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.348G>A	21.37:g.44283655C>T				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K116	ENST00000398208.2	37	c.348	CCDS13691.1	21																																																																																			WDR4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000160193		0.587	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	-	0	41	0	C			44283655	-1	tier1	-	no_errors	ENST00000330317	ensembl	human	known	74_37	silent	23.26	33	10	SNP	0.997	T	T	44283655	C	T	44283655	2	4	1	1	0	0	0	0	0	0	0	1	17342	680	24	3		3	WDR4	21	44283655	Silent	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	759548	44283655	3846240	401	401											
DGCR14	8220	genome.wustl.edu	37	chr22	19121854	19121854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcccactggccggggtcTtgaggtgggtggagcgtgct	4	8	19	10	2	1	1	0	1	1	0	1	2	1	2	2	6	3	2	2	6	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:19121854T>C	ENST00000252137.6	-	10	1329	c.1286A>G	c.(1285-1287)aAg>aGg	p.K429R		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	429					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GGCCGGGGTCTTGAGGTGGGT	0.682																																																	0													71	65	67					22																	19121854		2203	4300	6503	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1286A>G	22.37:g.19121854T>C	ENSP00000252137:p.Lys429Arg		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.K429R	ENST00000252137.6	37	c.1286	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921330	0.52653	.	.	ENSG00000100056	ENST00000252137	T	0.23950	1.88	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.43152	1.355	0.58432	D	0.99999	P	0.43094	0.799	B	0.39258	0.295	T	0.03483	-1.1032	10	0.10902	T	0.67	-35.5676	13.5076	0.61493	0.0:0.0:0.0:1.0	.	429	Q96DF8	DGC14_HUMAN	R	429	ENSP00000252137:K429R	ENSP00000252137:K429R	K	-	2	0	DGCR14	17501854	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.525000	0.81892	1.865000	0.54081	0.397000	0.26171	AAG	DGCR14	-	NULL	ENSG00000100056		0.682	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	-	0	99	0	T			19121854	-1	tier1	-	no_errors	ENST00000252137	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	C	C	19121854	T	C	19121854	3	2	1	1	0	0	0	0	1	0	0	0	4474	1609	56	4	148	4	DGCR14	22	19121854	Missense_Mutation	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09		19121854	32182712	402	402											
ZNF74	7625	genome.wustl.edu	37	chr22	20759771	20759771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcggcggggcgcaggcgtggGggcgccaggcaggtgctctg	3	5	22	11	5	1	0	0	0	1	0	2	0	1	0	1	8	1	3	1	8	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:20759771G>C	ENST00000400451.2	+	5	962	c.448G>C	c.(448-450)Ggg>Cgg	p.G150R	ZNF74_ENST00000356671.5_Missense_Mutation_p.G150R|ZNF74_ENST00000357502.5_Missense_Mutation_p.G155A|ZNF74_ENST00000405993.1_Missense_Mutation_p.G118R|ZNF74_ENST00000403682.3_Missense_Mutation_p.G121A	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	150					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGCGTGGGGGCGCCAGGC	0.687																																																	0													28	32	30					22																	20759771		1883	4079	5962	SO:0001583	missense	0			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"Zinc fingers, C2H2-type", "-"	13144	protein-coding gene	gene with protein product		194548	"zinc finger protein 74 (Cos52)"			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.448G>C	22.37:g.20759771G>C	ENSP00000383301:p.Gly150Arg		B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G150R	ENST00000400451.2	37	c.448	CCDS42982.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.42|11.42	1.634808|1.634808	0.29068|0.29068	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000403682;ENST00000357502|ENST00000400451;ENST00000420626;ENST00000356671;ENST00000405993	.|T;T;T;T	.|0.69175	.|3.51;-0.38;3.51;3.39	3.85|3.85	3.85|3.85	0.44370|0.44370	.|.	2.084070|2.084070	0.02602|0.02602	N|N	0.101165|0.101165	T|T	0.50820|0.50820	0.1638|0.1638	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|P	.|0.35982	.|0.531	.|B	.|0.33690	.|0.168	T|T	0.48410|0.48410	-0.9038|-0.9038	7|10	0.87932|0.22109	D|T	0|0.4	-3.5862|-3.5862	14.0771|14.0771	0.64897|0.64897	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|150	.|Q16587	.|ZNF74_HUMAN	A|R	121;155|150;47;150;118	.|ENSP00000383301:G150R;ENSP00000397011:G47R;ENSP00000349098:G150R;ENSP00000385855:G118R	ENSP00000350101:G155A|ENSP00000349098:G150R	G|G	+|+	2|1	0|0	ZNF74|ZNF74	19089771|19089771	0.000000|0.000000	0.05858|0.05858	0.006000|0.006000	0.13384|0.13384	0.004000|0.004000	0.04260|0.04260	-0.170000|-0.170000	0.09897|0.09897	2.429000|2.429000	0.82318|0.82318	0.655000|0.655000	0.94253|0.94253	GGG|GGG	ZNF74	-	NULL	ENSG00000185252		0.687	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF74	HGNC	protein_coding	OTTHUMT00000319648.2	-	0	35	0	G	NM_003426		20759771	1	tier1	-	no_errors	ENST00000356671	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.023	C	C	20759771	G	C	20759771	3	2	1	1	0	0	0	0	1	0	0	0	18175	1232	43	5	466	5	ZNF74	22	20759771	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	1637917	20759771	30544795	403	403											
SSTR3	6753	genome.wustl.edu	37	chr22	37603090	37603090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgcgtgaccctgcgttcGgagcgccgccgccgctggca	4	6	15	16	8	0	1	0	1	0	0	1	2	0	2	4	2	3	3	4	2	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:37603090G>A	ENST00000328544.3	-	2	1286	c.753C>T	c.(751-753)tcC>tcT	p.S251S	SSTR3_ENST00000402501.1_Silent_p.S251S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	251			S -> F (in dbSNP:rs6413537).		cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CCCTGCGTTCGGAGCGCCGCC	0.672																																																	0													37	34	35					22																	37603090		2201	4293	6494	SO:0001819	synonymous_variant	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.753C>T	22.37:g.37603090G>A			A8K550|Q53ZR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.S251	ENST00000328544.3	37	c.753	CCDS13944.1	22																																																																																			SSTR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt	ENSG00000183473		0.672	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0	39	0	G			37603090	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	silent	57.14	9	12	SNP	0.000	A	A	37603090	G	A	37603090	2	1	1	1	0	0	0	0	0	0	0	1	15246	1103	39	1		1	SSTR3	22	37603090	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	16843319	37603090	13701476	404	404											
ADSL	158	genome.wustl.edu	37	chr22	40761047	40761047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcttctttcactggtcGtgcctcccagcaggtaagct	5	14	8	14	1	3	0	1	0	2	0	6	0	5	0	3	2	3	3	3	2	1	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:40761047G>T	ENST00000216194.7	+	12	1411	c.1355G>T	c.(1354-1356)cGt>cTt	p.R452L	ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.R466L	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	452			R -> P (in ADSL deficiency; severe). {ECO:0000269|PubMed:12368987}.		'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TTCACTGGTCGTGCCTCCCAG	0.488																																					Colon(4;65 130 1097 1516)												0													159	127	138					22																	40761047		2203	4300	6503	SO:0001583	missense	0			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1355G>T	22.37:g.40761047G>T	ENSP00000216194:p.Arg452Leu		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase	p.R466L	ENST00000216194.7	37	c.1397	CCDS14001.1	22	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732720	0.89482	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028	D;D	0.95821	-3.82;-3.82	5.35	5.35	0.76521	Adenylosuccinate lyase C-terminal metazoa/fungi (1);L-Aspartase-like (1);	0.052401	0.85682	D	0.000000	D	0.98457	0.9486	H	0.95151	3.63	0.80722	D	1	D;D;D	0.55800	0.973;0.968;0.968	D;D;D	0.66084	0.941;0.933;0.933	D	0.99194	1.0871	10	0.72032	D	0.01	-6.9125	19.444	0.94840	0.0:0.0:1.0:0.0	.	466;452;452	E7ERF4;Q71UA4;P30566	.;.;PUR8_HUMAN	L	452;466;272	ENSP00000216194:R452L;ENSP00000390107:R466L	ENSP00000216194:R452L	R	+	2	0	ADSL	39090993	1.000000	0.71417	0.641000	0.29422	0.923000	0.55619	8.693000	0.91288	2.687000	0.91594	0.563000	0.77884	CGT	ADSL	-	pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,tigrfam_Pur_lyase	ENSG00000239900		0.488	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	-	0	59	0	G	NM_000026		40761047	1	tier1	-	no_errors	ENST00000454266	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	T	T	40761047	G	T	40761047	3	4	1	1	0	0	0	0	1	0	0	0	346	1145	40	2	1401	2	ADSL	22	40761047	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	3157957	40761047	10543519	405	405											
EP300	2033	genome.wustl.edu	37	chr22	41547895	41547895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcctccatctactagtaGcacagaagtgaattctcagg	14	10	7	10	0	2	2	1	1	2	1	5	2	4	2	2	1	2	2	2	1	6	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:41547895G>A	ENST00000263253.7	+	15	4095	c.2876G>A	c.(2875-2877)aGc>aAc	p.S959N		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	959					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTACTAGTAGCACAGAAGTG	0.483			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													115	115	115					22																	41547895		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2876G>A	22.37:g.41547895G>A	ENSP00000263253:p.Ser959Asn		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S959N	ENST00000263253.7	37	c.2876	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352872	0.82132	.	.	ENSG00000100393	ENST00000263253	D	0.84589	-1.87	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000019	D	0.86326	0.5906	M	0.69823	2.125	0.41268	D	0.986822	P	0.47762	0.9	B	0.42214	0.38	D	0.88177	0.2868	10	0.59425	D	0.04	-11.2353	19.4296	0.94759	0.0:0.0:1.0:0.0	.	959	Q09472	EP300_HUMAN	N	959	ENSP00000263253:S959N	ENSP00000263253:S959N	S	+	2	0	EP300	39877841	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.132000	0.77251	2.587000	0.87381	0.557000	0.71058	AGC	EP300	-	NULL	ENSG00000100393		0.483	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	41	0	G	NM_001429		41547895	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	A	A	41547895	G	A	41547895	3	1	1	1	0	0	0	0	1	0	0	0	5164	971	34	3	2934	3	EP300	22	41547895	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	786848	41547895	9756671	406	406											
TUBGCP6	85378	genome.wustl.edu	37	chr22	50657243	50657244	+	Frame_Shift_Ins	INS	-	-	A																															cgtgcggggtgtccccatgcINSaggctgcactgcagggcctt																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chr22:50657243_50657244insA	ENST00000248846.5	-	21	4813_4814	c.4709_4710insT	c.(4708-4710)ctgfs	p.L1570fs	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1570					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGTCCCCATGCAGGCTGCACTG	0.649																																																	0																																										SO:0001589	frameshift_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4710dupT	22.37:g.50657244_50657244dupA	ENSP00000248846:p.Leu1570fs		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Frame_Shift_Ins	INS	pfam_TUBGCP	p.H1571fs	ENST00000248846.5	37	c.4710_4709	CCDS14087.1	22																																																																																			TUBGCP6	-	pfam_TUBGCP	ENSG00000128159		0.649	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3		0	49	0	-	NM_020461		50657244	-1	tier1		no_errors	ENST00000248846	ensembl	human	known	74_37	frame_shift_ins	15.38	11	2	INS	0.997:1.000	A	A	50657244	-	A	50657243	7	5	1	1	0	1	1	0	0	0	0	0	16819	697	25	0	769	0	TUBGCP6	22	50657243	Frame_Shift_Ins	INS	-	TCGA-2H-A9GF-01A-11D-A37C-09	9109348	50657243	647323	407	407											
FAM47A	158724	genome.wustl.edu	37	chrX	34149725	34149725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcaggaggctccgggCggagactggacaccggagtc	8	5	16	12	3	1	1	1	0	1	1	4	5	2	4	2	6	0	1	2	6	0	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:34149725C>T	ENST00000346193.3	-	1	722	c.671G>A	c.(670-672)cGc>cAc	p.R224H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	224	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCGGGCGGAGACTGGA	0.662																																																	0													30	33	32					X																	34149725		2201	4297	6498	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.671G>A	X.37:g.34149725C>T	ENSP00000345029:p.Arg224His		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R224H	ENST00000346193.3	37	c.671	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.580154	0.00879	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	0.235	-0.47	0.12131	.	.	.	.	.	T	0.08537	0.0212	N	0.11201	0.11	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.36383	-0.9750	8	0.22109	T	0.4	.	.	.	.	.	224	Q5JRC9	FA47A_HUMAN	H	224	ENSP00000345029:R224H	ENSP00000345029:R224H	R	-	2	0	FAM47A	34059646	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.631000	0.02026	-0.724000	0.04908	-0.713000	0.03633	CGC	FAM47A	-	NULL	ENSG00000185448		0.662	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0	99	0	C	NM_203408		34149725	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	81.33	27	122	SNP	0.001	T	T	34149725	C	T	34149725	3	4	1	1	0	0	0	0	1	0	0	0	5591	768	27	1	1708	1	FAM47A	23	34149725	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09		34149725	121120835	408	408											
BCOR	54880	genome.wustl.edu	37	chrX	39934109	39934110	+	Frame_Shift_Ins	INS	-	-	T																															ctgtccaagcccagcgcttcINStgctgtggctacagcacttt																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:39934109_39934110insT	ENST00000378444.4	-	4	717_718	c.489_490insA	c.(487-492)gcagaafs	p.E164fs	BCOR_ENST00000342274.4_Frame_Shift_Ins_p.E164fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.E164fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.E164fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	164					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCCAGCGCTTCTGCTGTGGCTA	0.525			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0																																										SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.490dupA	X.37:g.39934110_39934110dupT	ENSP00000367705:p.Glu164fs		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E163fs	ENST00000378444.4	37	c.490_489	CCDS48093.1	X																																																																																			BCOR	-	NULL	ENSG00000183337		0.525	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2		0	35	0	-	NM_017745		39934110	-1	tier1		no_errors	ENST00000378444	ensembl	human	known	74_37	frame_shift_ins	82.35	9	42	INS	0.997:0.639	T	T	39934110	-	T	39934109	7	5	1	1	0	1	1	0	0	0	0	0	1387	922	32	0	4825	0	BCOR	23	39934109	Frame_Shift_Ins	INS	-	TCGA-2H-A9GF-01A-11D-A37C-09	5784384	39934109	115336451	409	409											
CASK	8573	genome.wustl.edu	37	chrX	41519766	41519766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcatcagcatgcgacgtaCtaggtctttggcactttcag	9	11	10	11	2	3	0	2	0	1	0	3	1	3	0	0	2	4	4	0	2	2	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:41519766C>T	ENST00000378163.1	-	8	1231	c.757G>A	c.(757-759)Gta>Ata	p.V253I	CASK_ENST00000421587.2_Missense_Mutation_p.V253I|CASK_ENST00000442742.2_Missense_Mutation_p.V253I|CASK_ENST00000378158.1_Missense_Mutation_p.V253I|CASK_ENST00000378166.4_Missense_Mutation_p.V253I|CASK_ENST00000318588.9_Missense_Mutation_p.V253I|CASK_ENST00000361962.4_Missense_Mutation_p.V253I|CASK_ENST00000378154.1_Missense_Mutation_p.V253I			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATGCGACGTACTAGGTCTTTG	0.443																																					NSCLC(42;104 1086 3090 27189 35040)												0													200	136	158					X																	41519766		2203	4300	6503	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.757G>A	X.37:g.41519766C>T	ENSP00000367405:p.Val253Ile		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like	p.V253I	ENST00000378163.1	37	c.757		X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060443	0.76074	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000248	T	0.46964	0.1420	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.33280	0.006;0.405;0.038;0.023	B;B;B;B	0.39840	0.002;0.311;0.017;0.021	T	0.52155	-0.8613	10	0.34782	T	0.22	.	18.391	0.90483	0.0:1.0:0.0:0.0	.	253;253;253;253	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	I	253	ENSP00000400526:V253I;ENSP00000322727:V253I;ENSP00000354641:V253I;ENSP00000367405:V253I;ENSP00000367400:V253I;ENSP00000367408:V253I;ENSP00000398007:V253I;ENSP00000367396:V253I	ENSP00000322727:V253I	V	-	1	0	CASK	41404710	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.487000	0.81328	2.283000	0.76528	0.594000	0.82650	GTA	CASK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000147044		0.443	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	-	0	37	0	C	NM_003688		41519766	-1	tier1	-	no_errors	ENST00000378163	ensembl	human	known	74_37	missense	75.51	12	37	SNP	1.000	T	T	41519766	C	T	41519766	3	4	1	1	0	0	0	0	1	0	0	0	2672	565	20	3	2103	3	CASK	23	41519766	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	1585657	41519766	113750794	410	410											
HUWE1	10075	genome.wustl.edu	37	chrX	53562355	53562355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcccctacctgtcattctCatctggcataccaggtgtac	7	14	6	14	0	3	0	2	0	2	0	5	0	4	0	4	2	3	2	4	2	3	5			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:53562355C>T	ENST00000342160.3	-	80	13096	c.12639G>A	c.(12637-12639)atG>atA	p.M4213I	HUWE1_ENST00000262854.6_Missense_Mutation_p.M4213I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4213	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGTCATTCTCATCTGGCATA	0.438																																																	0													233	173	194					X																	53562355		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12639G>A	X.37:g.53562355C>T	ENSP00000340648:p.Met4213Ile		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.M4213I	ENST00000342160.3	37	c.12639	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.056942|3.056942	0.55325|0.55325	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.56941	.|0.43;0.43	5.39|5.39	5.39|5.39	0.77823|0.77823	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72244|0.72244	0.3436|0.3436	M|M	0.80746|0.80746	2.51|2.51	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28820	.|0.224;0.187	.|P;P	.|0.51055	.|0.657;0.526	T|T	0.68481|0.68481	-0.5397|-0.5397	5|10	.|0.26408	.|T	.|0.33	.|.	17.1547|17.1547	0.86788|0.86788	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|4213;4197	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	K|I	3247;1036|4213	.|ENSP00000340648:M4213I;ENSP00000262854:M4213I	.|ENSP00000262854:M4213I	E|M	-|-	1|3	0|0	HUWE1|HUWE1	53579080|53579080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.295000|7.295000	0.78780|0.78780	2.403000|2.403000	0.81681|0.81681	0.600000|0.600000	0.82982|0.82982	GAG|ATG	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	41	0	C	XM_497119		53562355	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	82.22	8	37	SNP	1.000	T	T	53562355	C	T	53562355	3	4	1	1	0	0	0	0	1	0	0	0	7488	826	29	3	501	3	HUWE1	23	53562355	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	12042589	53562355	101708205	411	411											
MED12	9968	genome.wustl.edu	37	chrX	70342374	70342374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtccgtgcaaagttgcGggagatcgagcagcagatca	11	6	15	9	3	1	2	1	0	0	2	3	4	2	2	1	2	4	5	1	2	1	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:70342374G>T	ENST00000374080.3	+	9	1297	c.1265G>T	c.(1264-1266)cGg>cTg	p.R422L	MED12_ENST00000333646.6_Missense_Mutation_p.R422L|MED12_ENST00000374102.1_Missense_Mutation_p.R422L			Q93074	MED12_HUMAN	mediator complex subunit 12	422					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCAAAGTTGCGGGAGATCGAG	0.493			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													59	56	57					X																	70342374		1954	4128	6082	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1265G>T	X.37:g.70342374G>T	ENSP00000363193:p.Arg422Leu		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.R422L	ENST00000374080.3	37	c.1265	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	14.80	2.644732	0.47258	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.0	5.0	0.66597	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.50154	0.1599	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.59357	0.564;0.985;0.943;0.766	B;P;P;P	0.61874	0.17;0.895;0.771;0.484	T	0.48091	-0.9065	10	0.48119	T	0.1	-19.2746	17.5196	0.87783	0.0:0.0:1.0:0.0	.	422;269;422;422	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	422;422;422;422;390	ENSP00000333125:R422L;ENSP00000363215:R422L;ENSP00000363193:R422L;ENSP00000414203:R390L	ENSP00000333125:R422L	R	+	2	0	MED12	70259099	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.168000	0.77570	2.321000	0.78463	0.502000	0.49764	CGG	MED12	-	pfam_Mediator_Med12_LCEWAV	ENSG00000184634		0.493	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1		0	24	0	G	NM_005120		70342374	1			no_errors	ENST00000333646	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	70342374	G	T	70342374	3	4	1	1	0	0	0	0	1	0	0	0	9466	1116	39	2	1299	2	MED12	23	70342374	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	16780019	70342374	84928186	412	412											
CPXCR1	53336	genome.wustl.edu	37	chrX	88008520	88008520	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacatagagtctccatcTgctgatcccaatatgatcta	13	11	6	11	0	3	4	0	2	3	2	5	4	4	4	2	0	1	1	2	0	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:88008520T>C	ENST00000276127.4	+	3	364	c.105T>C	c.(103-105)tcT>tcC	p.S35S	CPXCR1_ENST00000373111.1_Silent_p.S35S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	35							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGTCTCCATCTGCTGATCCCA	0.433																																																	0													43	38	40					X																	88008520		2203	4300	6503	SO:0001819	synonymous_variant	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.105T>C	X.37:g.88008520T>C			B2R9F9|D3DTE7|Q96RS3	Silent	SNP	pfscan_Znf_C2H2	p.S35	ENST00000276127.4	37	c.105	CCDS14458.1	X																																																																																			CPXCR1	-	NULL	ENSG00000147183		0.433	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	-	0	44	0	T	NM_033048		88008520	1	tier1	-	no_errors	ENST00000276127	ensembl	human	known	74_37	silent	85.37	6	35	SNP	0.000	C	C	88008520	T	C	88008520	2	2	1	1	0	0	0	0	0	0	0	1	3843	1567	55	4		4	CPXCR1	23	88008520	Silent	SNP	T	TCGA-2H-A9GF-01A-11D-A37C-09	17666146	88008520	67262040	413	413											
DIAPH2	1730	genome.wustl.edu	37	chrX	96354739	96354739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagatactcaacgaattagCagagcttaagaatgaatatg	18	9	9	5	1	1	4	1	1	0	3	1	6	1	4	0	0	4	2	0	0	9	4			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:96354739C>T	ENST00000324765.8	+	20	2641	c.2294C>T	c.(2293-2295)gCa>gTa	p.A765V	DIAPH2_ENST00000355827.4_Missense_Mutation_p.A765V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A761V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A765V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A765V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	765	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AACGAATTAGCAGAGCTTAAG	0.348																																																	0													115	94	101					X																	96354739		2203	4300	6503	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2294C>T	X.37:g.96354739C>T	ENSP00000321348:p.Ala765Val		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.A765V	ENST00000324765.8	37	c.2294	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811160	0.50527	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.21	4.34	0.51931	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.244482	0.31347	N	0.007802	T	0.22399	0.0540	L	0.41236	1.265	0.46954	D	0.999261	B;B	0.31752	0.338;0.29	B;B	0.37015	0.239;0.154	T	0.02975	-1.1087	10	0.59425	D	0.04	.	13.7076	0.62648	0.0:0.8477:0.1523:0.0	.	765;765	O60879;O60879-2	DIAP2_HUMAN;.	V	765;761;765;765;765;772	ENSP00000362152:A765V;ENSP00000362145:A761V;ENSP00000348082:A765V;ENSP00000362140:A765V;ENSP00000321348:A765V	ENSP00000321348:A765V	A	+	2	0	DIAPH2	96241395	1.000000	0.71417	0.730000	0.30809	0.207000	0.24258	5.010000	0.64004	0.942000	0.37525	-0.229000	0.12294	GCA	DIAPH2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000147202		0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0	18	0	C	NM_006729, NM_007309		96354739	1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	86.67	4	26	SNP	1.000	T	T	96354739	C	T	96354739	3	4	1	1	0	0	0	0	1	0	0	0	4533	710	25	3	2372	3	DIAPH2	23	96354739	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	8346219	96354739	58915821	414	414											
GPRASP1	9737	genome.wustl.edu	37	chrX	101909622	101909622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatgagtctgttaagacaCcctggttctgggccagagat	10	10	13	8	0	2	3	0	1	2	2	2	5	2	4	2	3	0	2	2	3	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:101909622C>G	ENST00000361600.5	+	5	1582	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A	GPRASP1_ENST00000537097.1_Missense_Mutation_p.P261A|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P261A|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P261A|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	261					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTTAAGACACCCTGGTTCTG	0.468																																																	0													123	124	123					X																	101909622		2203	4300	6503	SO:0001583	missense	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.781C>G	X.37:g.101909622C>G	ENSP00000355146:p.Pro261Ala		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.P261A	ENST00000361600.5	37	c.781	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	C	1.666	-0.510108	0.04231	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08282	3.11;3.11;3.11;3.11	1.95	-2.54	0.06307	.	.	.	.	.	T	0.06508	0.0167	L	0.55481	1.735	0.09310	N	1	B	0.21753	0.06	B	0.25987	0.065	T	0.48364	-0.9042	9	0.07175	T	0.84	0.6619	4.2019	0.10471	0.0:0.4725:0.2119:0.3156	.	261	Q5JY77	GASP1_HUMAN	A	261	ENSP00000393691:P261A;ENSP00000409420:P261A;ENSP00000355146:P261A;ENSP00000445683:P261A	ENSP00000355146:P261A	P	+	1	0	GPRASP1	101796278	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.175000	0.09825	-0.709000	0.05008	-0.757000	0.03467	CCC	GPRASP1	-	NULL	ENSG00000198932		0.468	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	-	0	38	0	C	NM_014710		101909622	1	tier1	-	no_errors	ENST00000361600	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.000	G	G	101909622	C	G	101909622	3	3	1	1	0	0	0	0	1	0	0	0	6749	507	18	5	783	5	GPRASP1	23	101909622	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	5554883	101909622	53360938	415	415											
CAPN6	827	genome.wustl.edu	37	chrX	110496350	110496350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaatcaccacttcagtcCattctccaaaatgccagaaa	15	9	3	14	0	4	1	3	0	1	1	6	1	5	1	4	0	1	0	4	0	4	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:110496350C>G	ENST00000324068.1	-	4	559	c.392G>C	c.(391-393)tGg>tCg	p.W131S	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	131	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CACTTCAGTCCATTCTCCAAA	0.423																																																	0													146	127	133					X																	110496350		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.392G>C	X.37:g.110496350C>G	ENSP00000317214:p.Trp131Ser		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.W131S	ENST00000324068.1	37	c.392	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637918	0.87760	.	.	ENSG00000077274	ENST00000324068	D	0.93488	-3.23	5.97	5.97	0.96955	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99208	1.0875	10	0.87932	D	0	.	19.371	0.94484	0.0:1.0:0.0:0.0	.	131	Q9Y6Q1	CAN6_HUMAN	S	131	ENSP00000317214:W131S	ENSP00000317214:W131S	W	-	2	0	CAPN6	110383006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.527000	0.85204	0.600000	0.82982	TGG	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000077274		0.423	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0	43	0	C			110496350	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	G	G	110496350	C	G	110496350	3	3	1	1	0	0	0	0	1	0	0	0	2637	595	21	5	1573	5	CAPN6	23	110496350	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	8586728	110496350	44774210	416	416											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299490	125299490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctgggccagcccggcctCcttgtcccgcatgaggggga	4	6	16	15	2	0	1	0	1	0	0	2	2	2	2	6	5	1	1	6	5	0	1			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:125299490C>T	ENST00000360028.2	-	1	444	c.418G>A	c.(418-420)Gag>Aag	p.E140K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.E140K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	140										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCCCGGCCTCCTTGTCCCGC	0.647																																																	0													84	82	82					X																	125299490		2203	4300	6503	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.418G>A	X.37:g.125299490C>T	ENSP00000353128:p.Glu140Lys		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E140K	ENST00000360028.2	37	c.418	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	c	0.895	-0.724121	0.03158	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35236	1.32;1.32	3.89	1.15	0.20763	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.20941	0.0504	L	0.31926	0.97	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	9	0.08599	T	0.76	.	5.4665	0.16646	0.0:0.6189:0.0:0.3811	.	140	Q5VW00	DC122_HUMAN	K	140	ENSP00000441489:E140K;ENSP00000353128:E140K	ENSP00000353128:E140K	E	-	1	0	DCAF12L2	125127171	0.069000	0.21087	0.000000	0.03702	0.007000	0.05969	2.286000	0.43496	0.108000	0.17862	0.540000	0.68198	GAG	DCAF12L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198354		0.647	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	61	0	C	NM_001013628		125299490	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	45.24	23	19	SNP	0.009	T	T	125299490	C	T	125299490	3	4	1	1	0	0	0	0	1	0	0	0	4274	864	30	3	977	3	DCAF12L2	23	125299490	Missense_Mutation	SNP	C	TCGA-2H-A9GF-01A-11D-A37C-09	14803140	125299490	29971070	417	417											
FMR1NB	158521	genome.wustl.edu	37	chrX	147084798	147084798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggccaatctctggaagaaGattccgcattggaagctttg	11	11	11	8	1	1	2	0	0	1	2	3	4	2	4	2	3	1	2	2	3	4	3			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:147084798G>A	ENST00000370467.3	+	2	429	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	119						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGAAGAAGATTCCGCATT	0.353																																																	0													121	112	115					X																	147084798		2203	4300	6503	SO:0001583	missense	0				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.355G>A	X.37:g.147084798G>A	ENSP00000359498:p.Asp119Asn		D3DWT3	Missense_Mutation	SNP	superfamily_P_trefoil	p.D119N	ENST00000370467.3	37	c.355	CCDS14683.1	X	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697142	0.48202	.	.	ENSG00000176988	ENST00000370467	T	0.48201	0.82	4.94	-7.26	0.01466	.	5.383350	0.00166	N	0.000019	T	0.19765	0.0475	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.18840	-1.0324	10	0.08381	T	0.77	6.007	3.4516	0.07501	0.3133:0.4453:0.1295:0.112	.	119	Q8N0W7	FMR1N_HUMAN	N	119	ENSP00000359498:D119N	ENSP00000359498:D119N	D	+	1	0	FMR1NB	146892490	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.508000	0.02266	-1.062000	0.03181	-0.237000	0.12165	GAT	FMR1NB	-	NULL	ENSG00000176988		0.353	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1NB	HGNC	protein_coding	OTTHUMT00000058667.1	-	0	47	0	G	NM_152578		147084798	1	tier1	-	no_errors	ENST00000370467	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.000	A	A	147084798	G	A	147084798	3	1	1	1	0	0	0	0	1	0	0	0	5983	942	33	3	361	3	FMR1NB	23	147084798	Missense_Mutation	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	21785308	147084798	8185762	418	418											
AFF2	2334	genome.wustl.edu	37	chrX	148037969	148037969	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagatcatgagaacctGaaaaacctctgggtgaagat	14	8	11	8	1	2	5	1	3	1	3	2	7	2	5	2	1	3	0	2	1	4	0			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:148037969G>T	ENST00000370460.2	+	11	2873	c.2394G>T	c.(2392-2394)ctG>ctT	p.L798L	AFF2_ENST00000342251.3_Silent_p.L765L|AFF2_ENST00000370457.5_Silent_p.L765L|AFF2_ENST00000286437.5_Silent_p.L439L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	798					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGAACCTGAAAAACCTCT	0.478																																																	0													119	109	113					X																	148037969		2203	4300	6503	SO:0001819	synonymous_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2394G>T	X.37:g.148037969G>T			A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	pfam_TF_AF4/FMR2	p.L798	ENST00000370460.2	37	c.2394	CCDS14684.1	X																																																																																			AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	46	0	G	NM_002025		148037969	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	silent	51.52	16	17	SNP	0.025	T	T	148037969	G	T	148037969	2	4	1	1	0	0	0	0	0	0	0	1	357	1277	45	3		3	AFF2	23	148037969	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	953171	148037969	7232591	419	419											
OPN1LW	5956	genome.wustl.edu	37	chrX	153421840	153421840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacgcgcatggtggtggtGatgatctttgcgtactgcgt	5	13	16	7	4	1	3	0	3	1	0	1	3	1	3	0	3	3	2	0	3	1	2			TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:153421840G>A	ENST00000369951.4	+	5	876	c.816G>A	c.(814-816)gtG>gtA	p.V272V	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	272					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGTGGTGATGATCTTTG	0.567																																																	0													445	350	382					X																	153421840		2195	4271	6466	SO:0001819	synonymous_variant	0			Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"GPCR / Class A : Opsin receptors"	9936	protein-coding gene	gene with protein product	"cone dystrophy 5 (X-linked)"	300822	"color blindness, protan", "red cone photoreceptor pigment"	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.816G>A	X.37:g.153421840G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin	p.V272	ENST00000369951.4	37	c.816	CCDS14742.1	X																																																																																			OPN1LW	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102076		0.567	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1LW	HGNC	protein_coding	OTTHUMT00000082839.2	-	0	75	0	G	NM_020061		153421840	1	tier1	-	no_errors	ENST00000369951	ensembl	human	known	74_37	silent	48.31	46	43	SNP	1.000	A	A	153421840	G	A	153421840	2	1	1	1	0	0	0	0	0	0	0	1	10916	1277	45	3		3	OPN1LW	23	153421840	Silent	SNP	G	TCGA-2H-A9GF-01A-11D-A37C-09	5383871	153421840	1848720	420	420											
F8	2157	genome.wustl.edu	37	chrX	154158885	154158885	+	Frame_Shift_Del	DEL	T	T	-																															tcatgaatcaaaggtgtcacTtttttaaactcagtgtcact																										TCGA-2H-A9GF-01A-11D-A37C-09	TCGA-2H-A9GF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5fc5cabe-ac15-457f-ba77-e14eb0a22f73	49823a1d-4dc9-476a-a958-d0b86155a286	g.chrX:154158885delT	ENST00000360256.4	-	14	3380	c.3180delA	c.(3178-3180)aaafs	p.K1060fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1060	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGGTGTCACTTTTTTAAACT	0.328																																																	0													110	101	104					X																	154158885		2203	4300	6503	SO:0001589	frameshift_variant	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3180delA	X.37:g.154158885delT	ENSP00000353393:p.Lys1060fs		Q14286|Q5HY69	Frame_Shift_Del	DEL	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.V1061fs	ENST00000360256.4	37	c.3180	CCDS35457.1	X																																																																																			F8	-	NULL	ENSG00000185010		0.328	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4		0	24	0	T			154158885	-1	tier1		no_errors	ENST00000360256	ensembl	human	known	74_37	frame_shift_del	42.50	23	17	DEL	0.119	-	-	154158885	T	-	154158885	7	5	1	1	0	1	0	1	0	0	0	0	5366	1606	56	0	3955	0	F8	23	154158885	Frame_Shift_Del	DEL	T	TCGA-2H-A9GF-01A-11D-A37C-09	737045	154158885	1111675	421	421											
CROCC	9696	genome.wustl.edu	37	chr1	17256962	17256962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatgccatgctccgagAacagctggaccaggcaggct	10	6	14	11	1	0	2	0	1	0	1	1	4	1	3	3	4	4	4	3	4	2	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:17256962A>G	ENST00000375541.5	+	7	791	c.722A>G	c.(721-723)gAa>gGa	p.E241G	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ATGCTCCGAGAACAGCTGGAC	0.652																																																	0													42	37	39					1																	17256962		2199	4287	6486	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.722A>G	1.37:g.17256962A>G	ENSP00000364691:p.Glu241Gly			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.E241G	ENST00000375541.5	37	c.722	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826291	0.71143	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.16597	2.33	5.21	5.21	0.72293	.	.	.	.	.	T	0.39937	0.1097	M	0.75615	2.305	0.54753	D	0.99998	P;D	0.69078	0.89;0.997	P;D	0.65443	0.817;0.935	T	0.23619	-1.0183	9	0.49607	T	0.09	.	13.8857	0.63706	1.0:0.0:0.0:0.0	.	104;241	A1L0S8;Q5TZA2	.;CROCC_HUMAN	G	241;122	ENSP00000364691:E241G	ENSP00000364691:E241G	E	+	2	0	CROCC	17129549	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.895000	0.92512	1.959000	0.56917	0.454000	0.30748	GAA	CROCC	-	NULL	ENSG00000058453		0.652	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0	110	0	A	NM_014675		17256962	1	tier1	-	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	15.23	127	23	SNP	1.000	G	G	17256962	A	G	17256962	3	3	2	1	0	0	0	0	1	0	0	0	3900	246	9	4	748	4	CROCC	1	17256962	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09		17256962	231993659	1	422											
STX12	23673	genome.wustl.edu	37	chr1	28138753	28138754	+	Frame_Shift_Del	DEL	AG	AG	-																															atttggaacttattaaagaaAgagaaacggcaattcggcag																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:28138753_28138754delAG	ENST00000373943.4	+	6	675_676	c.550_551delAG	c.(550-552)agafs	p.R184fs		NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	184	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TATTAAAGAAAGAGAAACGGCA	0.48																																					Ovarian(5;5 342 2097 9488 34083)												0																																										SO:0001589	frameshift_variant	0			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.550_551delAG	1.37:g.28138755_28138756delAG	ENSP00000363054:p.Arg184fs		B1AJQ7|O95564	Frame_Shift_Del	DEL	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E185fs	ENST00000373943.4	37	c.550_551	CCDS310.1	1																																																																																			STX12	-	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000117758		0.48	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX12	HGNC	protein_coding	OTTHUMT00000010519.1		0	22	0	AG	NM_177424		28138754	1	tier1		no_errors	ENST00000373943	ensembl	human	known	74_37	frame_shift_del	22.58	24	7	DEL	1.000:1.000	-	-	28138754	AG	-	28138753	7	5	2	1	0	1	0	1	0	0	0	0	15385	64	3	0	572	0	STX12	1	28138753	Frame_Shift_Del	DEL	AG	TCGA-2H-A9GG-01A-11D-A37C-09	10881791	28138753	221111868	2	423											
CSMD2	84970	genome.wustl.edu	37	chr1	34631391	34631391	+	5'Flank	DEL	G	G	-																															tgaacttgccatctagggccGggggcgatgcttatgagcct																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:34631391delG	ENST00000373374.3	+	0	0				CSMD2_ENST00000373381.4_5'Flank	NM_032884.3	NP_116273.2	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94											central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ATCTAGGGCCGGGGGCGATGC	0.557																																																	0													158	122	134					1																	34631391		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012		1.37:g.34631391delG	Exception_encountered		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G9fs	ENST00000373374.3	37	c.24	CCDS381.1	1																																																																																			CSMD2	-	NULL	ENSG00000121904		0.557	C1orf94-001	KNOWN	basic|CCDS	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000011463.2		0	56	0	G	NM_032884		34631391	-1	tier1		no_errors	ENST00000241312	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.021	-	-	34631391	G	-	34631391	6	5	2	0	1	1	0	1	0	0	0	0	3954	1103	39	0		0	CSMD2	1	34631391	5'Flank	DEL	G	TCGA-2H-A9GG-01A-11D-A37C-09	6492638	34631391	214619230	3	424											
PTCH2	8643	genome.wustl.edu	37	chr1	45292197	45292197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggttgaggagcagcagaGcacagacgaggaaagtgcac	14	3	17	7	1	0	3	0	1	0	2	0	6	0	5	0	4	4	5	0	4	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:45292197G>A	ENST00000372192.3	-	18	3069	c.2939C>T	c.(2938-2940)gCt>gTt	p.A980V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A980V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	980					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCAGAGCACAGACGAG	0.632									Basal Cell Nevus syndrome																																								0													37	36	37					1																	45292197		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2939C>T	1.37:g.45292197G>A	ENSP00000361266:p.Ala980Val		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.A980V	ENST00000372192.3	37	c.2939	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157701	0.78114	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.84944	-1.92;-1.92	4.17	4.17	0.49024	.	0.000000	0.50627	D	0.000119	D	0.90577	0.7046	M	0.64997	1.995	0.58432	D	0.999995	P;D	0.57899	0.846;0.981	P;D	0.66084	0.637;0.941	D	0.91094	0.4909	10	0.56958	D	0.05	-4.8842	17.7983	0.88579	0.0:0.0:1.0:0.0	.	980;980	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	980	ENSP00000389703:A980V;ENSP00000361266:A980V	ENSP00000361266:A980V	A	-	2	0	PTCH2	45064784	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.265000	0.78442	2.608000	0.88229	0.655000	0.94253	GCT	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000117425		0.632	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	-	0	40	0	G	NM_003738		45292197	-1	tier1	-	no_errors	ENST00000372192	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A	A	45292197	G	A	45292197	3	1	2	1	0	0	0	0	1	0	0	0	12773	971	34	3	712	3	PTCH2	1	45292197	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	10660806	45292197	203958424	4	425											
DOCK7	85440	genome.wustl.edu	37	chr1	62971450	62971450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcacttttagcactccaCcaagaatgctctctttggat	10	13	7	11	0	1	1	0	0	1	1	3	2	2	2	2	1	3	4	2	1	4	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:62971450C>A	ENST00000340370.5	-	35	4438	c.4421G>T	c.(4420-4422)gGt>gTt	p.G1474V	DOCK7_ENST00000251157.5_Missense_Mutation_p.G1496V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1505					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TAGCACTCCACCAAGAATGCT	0.373																																																	0													143	115	124					1																	62971450		2203	4300	6503	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4421G>T	1.37:g.62971450C>A	ENSP00000340742:p.Gly1474Val		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.G1496V	ENST00000340370.5	37	c.4487	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.2|25.2	4.618666|4.618666	0.87460|0.87460	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.54071|.	0.59;0.59|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.994;0.995;0.997;0.997;1.0;0.996|.	D;P;D;D;D;D|.	0.70487|.	0.959;0.905;0.946;0.909;0.969;0.958|.	T|T	0.78181|0.78181	-0.2304|-0.2304	10|5	0.62326|.	D|.	0.03|.	.|.	18.4148|18.4148	0.90565|0.90565	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1505;1496;1474;1465;1465;1496|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	V|C	1505;1496;1474;235|667	ENSP00000251157:G1496V;ENSP00000340742:G1474V|.	ENSP00000251157:G1496V|.	G|W	-|-	2|3	0|0	DOCK7|DOCK7	62744038|62744038	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.951000|0.951000	0.60555|0.60555	7.818000|7.818000	0.86416|0.86416	2.339000|2.339000	0.79563|0.79563	0.591000|0.591000	0.81541|0.81541	GGT|TGG	DOCK7	-	superfamily_ARM-type_fold	ENSG00000116641		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	-	0	66	0	C	NM_033407		62971450	-1	tier1	-	no_errors	ENST00000251157	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	62971450	C	A	62971450	3	1	2	1	0	0	0	0	1	0	0	0	4706	507	18	3	1968	3	DOCK7	1	62971450	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	17679253	62971450	186279171	5	426											
LRRC8B	23507	genome.wustl.edu	37	chr1	90050026	90050026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccacattccattttcaGcctgaataatttgcatgagt	11	14	5	11	0	1	2	1	2	0	0	3	2	3	2	3	0	2	1	3	0	2	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:90050026G>A	ENST00000330947.2	+	5	2177	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S606N|LRRC8B_ENST00000439853.1_Missense_Mutation_p.S606N	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	606					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TCCATTTTCAGCCTGAATAAT	0.393																																																	0													70	72	71					1																	90050026		2203	4300	6503	SO:0001583	missense	0			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1817G>A	1.37:g.90050026G>A	ENSP00000332674:p.Ser606Asn		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S606N	ENST00000330947.2	37	c.1817	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720965	0.68959	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.58060	0.36;0.36;0.36	5.31	5.31	0.75309	.	0.058857	0.64402	D	0.000002	T	0.27900	0.0687	N	0.13098	0.295	0.45354	D	0.998349	P	0.45348	0.856	P	0.44897	0.463	T	0.05451	-1.0884	9	.	.	.	.	15.9014	0.79380	0.0:0.1446:0.8554:0.0	.	606	Q6P9F7	LRC8B_HUMAN	N	606	ENSP00000332674:S606N;ENSP00000350933:S606N;ENSP00000400704:S606N	.	S	+	2	0	LRRC8B	89822614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.633000	0.89246	0.655000	0.94253	AGC	LRRC8B	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000197147		0.393	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	-	0	44	0	G	NM_015350		90050026	1	tier1	-	no_errors	ENST00000330947	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	A	A	90050026	G	A	90050026	3	1	2	1	0	0	0	0	1	0	0	0	9057	971	34	3	1819	3	LRRC8B	1	90050026	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	27078576	90050026	159200595	6	427											
TGFBR3	7049	genome.wustl.edu	37	chr1	92185688	92185688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttggccttcccctcccCggatgggcgggttctgcagg	3	11	13	14	2	1	0	0	0	1	0	3	1	3	1	5	5	1	2	5	5	0	4	rs373979895		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:92185688C>A	ENST00000525962.1	-	8	1236	c.1175G>T	c.(1174-1176)cGg>cTg	p.R392L	TGFBR3_ENST00000212355.4_Missense_Mutation_p.R392L|TGFBR3_ENST00000370399.2_Missense_Mutation_p.R391L			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	392					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTCCCCTCCCCGGATGGGCGG	0.587																																																	0													34	36	36					1																	92185688		2203	4300	6503	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1175G>T	1.37:g.92185688C>A	ENSP00000436127:p.Arg392Leu		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R392L	ENST00000525962.1	37	c.1175	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	C	5.053	0.195432	0.09599	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.62	-4.28	0.03732	.	0.630018	0.14244	N	0.331896	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	B;B;B	0.28400	0.006;0.21;0.133	B;B;B	0.26094	0.004;0.066;0.03	T	0.26360	-1.0105	10	0.41790	T	0.15	-0.0112	2.7981	0.05407	0.0954:0.3906:0.1878:0.3262	.	392;391;392	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	L	392;391;392;391	ENSP00000212355:R392L;ENSP00000359426:R391L;ENSP00000436127:R392L;ENSP00000432638:R391L	ENSP00000212355:R392L	R	-	2	0	TGFBR3	91958276	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-1.077000	0.03416	-0.950000	0.03659	-0.797000	0.03246	CGG	TGFBR3	-	NULL	ENSG00000069702		0.587	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	-	0	21	0	C	NM_003243		92185688	-1	tier1	-	no_errors	ENST00000212355	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.001	A	A	92185688	C	A	92185688	3	1	2	1	0	0	0	0	1	0	0	0	15870	652	23	2	1416	2	TGFBR3	1	92185688	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	2135662	92185688	157064933	7	428											
DR1	1810	genome.wustl.edu	37	chr1	93826185	93826185	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaggatgaagaagatgatGatgatatctgaaattcacca	16	10	9	6	0	3	7	2	5	1	2	3	8	3	8	1	1	0	0	1	1	4	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:93826185G>C	ENST00000370272.4	+	3	1278	c.520G>C	c.(520-522)Gat>Cat	p.D174H	DR1_ENST00000481583.1_3'UTR|DR1_ENST00000370267.1_Missense_Mutation_p.D174H	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	174					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		AGAAGATGATGATGATATCTG	0.413																																																	0													67	66	67					1																	93826185		2203	4300	6503	SO:0001583	missense	0			M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.520G>C	1.37:g.93826185G>C	ENSP00000359295:p.Asp174His			Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.D174H	ENST00000370272.4	37	c.520	CCDS744.1	1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911856	0.52439	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.38077	1.16;1.16	5.5	5.5	0.81552	.	0.088762	0.85682	D	0.000000	T	0.14184	0.0343	N	0.08118	0	0.80722	D	1	B	0.27450	0.179	B	0.26094	0.066	T	0.10776	-1.0615	10	0.87932	D	0	-16.0889	19.372	0.94492	0.0:0.0:1.0:0.0	.	174	Q01658	NC2B_HUMAN	H	174	ENSP00000359295:D174H;ENSP00000359290:D174H	ENSP00000359290:D174H	D	+	1	0	DR1	93598773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.882000	0.92420	2.582000	0.87167	0.585000	0.79938	GAT	DR1	-	NULL	ENSG00000117505		0.413	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DR1	HGNC	protein_coding	OTTHUMT00000029976.2	-	0	44	0	G	NM_001938		93826185	1	tier1	-	no_errors	ENST00000370267	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	93826185	G	C	93826185	3	2	2	1	0	0	0	0	1	0	0	0	4766	1290	45	5	530	5	DR1	1	93826185	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	1640497	93826185	155424436	8	429											
AMPD1	270	genome.wustl.edu	37	chr1	115231339	115231339	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaaacactttttcagcaaAgttgcgcattgcatcatcaa	13	11	7	10	1	3	0	3	0	0	0	3	0	3	0	0	1	4	5	0	1	3	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:115231339A>C	ENST00000520113.2	-	3	172	c.157T>G	c.(157-159)Ttt>Gtt	p.F53V	AMPD1_ENST00000369538.3_Missense_Mutation_p.F49V|AMPD1_ENST00000353928.6_Missense_Mutation_p.F20V			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	53					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTTTCAGCAAAGTTGCGCATT	0.413																																																	0													134	131	132					1																	115231339		2203	4300	6503	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.157T>G	1.37:g.115231339A>C	ENSP00000430075:p.Phe53Val		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.F53V	ENST00000520113.2	37	c.157	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854877	0.32791	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.39406	1.08;1.08;1.08	5.5	5.5	0.81552	.	0.267888	0.42964	D	0.000640	T	0.17023	0.0409	L	0.32530	0.975	0.37818	D	0.928299	B;B	0.31581	0.329;0.107	B;B	0.26517	0.07;0.039	T	0.09143	-1.0688	10	0.48119	T	0.1	-11.9912	10.2957	0.43623	0.9263:0.0:0.0737:0.0	.	49;20	Q5TF02;P23109	.;AMPD1_HUMAN	V	53;49;20	ENSP00000430075:F53V;ENSP00000358551:F49V;ENSP00000316520:F20V	ENSP00000316520:F20V	F	-	1	0	AMPD1	115032862	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	3.779000	0.55379	2.216000	0.71823	0.533000	0.62120	TTT	AMPD1	-	pirsf_AMP_deaminase	ENSG00000116748		0.413	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	-	0	76	0	A			115231339	-1	tier1	-	no_errors	ENST00000520113	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	C	C	115231339	A	C	115231339	3	2	2	1	0	0	0	0	1	0	0	0	585	72	3	4	2241	4	AMPD1	1	115231339	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	21405154	115231339	134019282	9	430											
TBX15	6913	genome.wustl.edu	37	chr1	119427568	119427568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggcgctcagtttttcCgggcttgcagctagcctagg	6	11	14	10	2	1	1	1	1	0	1	2	2	2	1	2	3	3	5	2	3	2	5	rs574411651		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:119427568C>T	ENST00000369429.3	-	8	1605	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	TBX15_ENST00000207157.3_Silent_p.P426P			Q96SF7	TBX15_HUMAN	T-box 15	532					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCAGTTTTTCCGGGCTTGCAG	0.537													C|||	1	0.000199681	0	0	5008	,	,		20436	0		0.001	False		,,,				2504	0																0													92	85	88					1																	119427568		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1596G>A	1.37:g.119427568C>T			Q08E76|Q5JT54|Q5T9S7	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P426	ENST00000369429.3	37	c.1278		1																																																																																			TBX15	-	NULL	ENSG00000092607		0.537	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	-	0	17	0	C	NM_152380		119427568	-1	tier1	-	no_errors	ENST00000207157	ensembl	human	known	74_37	silent	40.00	6	4	SNP	0.934	T	T	119427568	C	T	119427568	2	4	2	1	0	0	0	0	0	0	0	1	15699	639	23	1		1	TBX15	1	119427568	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	4196229	119427568	129823053	10	431											
VPS72	6944	genome.wustl.edu	37	chr1	151156882	151156882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcacagtggggcccctttCgccgtcttgactggccctgc	3	10	12	16	2	2	1	1	1	1	0	3	1	2	1	4	3	1	1	4	3	0	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:151156882C>T	ENST00000354473.4	-	4	509	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	158					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGCCCCTTTCGCCGTCTTGA	0.562																																					Pancreas(109;1131 2287 3209 24201)												0													95	99	97					1																	151156882		2203	4300	6503	SO:0001583	missense	0			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.473G>A	1.37:g.151156882C>T	ENSP00000346464:p.Arg158Gln		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	pfam_YL1,pfam_YL1_C	p.R158Q	ENST00000354473.4	37	c.473	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	.	17.56	3.421167	0.62622	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	6.16	5.25	0.73442	.	0.063404	0.64402	D	0.000012	T	0.29491	0.0735	L	0.53671	1.685	0.52501	D	0.99995	B	0.30511	0.282	B	0.16289	0.015	T	0.32268	-0.9913	9	0.40728	T	0.16	-0.3238	6.0739	0.19905	0.0:0.6726:0.1656:0.1619	.	158	Q15906	VPS72_HUMAN	Q	158	.	ENSP00000346464:R158Q	R	-	2	0	VPS72	149423506	0.999000	0.42202	0.967000	0.41034	0.716000	0.41182	4.068000	0.57534	1.612000	0.50221	0.650000	0.86243	CGA	VPS72	-	pfam_YL1	ENSG00000163159		0.562	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	-	0	45	0	C	NM_005997		151156882	-1	tier1	-	no_errors	ENST00000368892	ensembl	human	known	74_37	missense	39.19	44	29	SNP	0.988	T	T	151156882	C	T	151156882	3	4	2	1	0	0	0	0	1	0	0	0	17266	884	31	1	633	1	VPS72	1	151156882	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	31729314	151156882	98093739	11	432											
FLG	2312	genome.wustl.edu	37	chr1	152276167	152276167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcgggatccttgtcttcctCcagtactgggcccagcccgt	4	10	12	15	2	1	0	0	0	1	0	4	1	4	1	5	3	2	1	5	3	1	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:152276167C>G	ENST00000368799.1	-	3	11230	c.11195G>C	c.(11194-11196)gGa>gCa	p.G3732A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3732	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCCTCCAGTACTGGG	0.612									Ichthyosis																																								0													224	229	227					1																	152276167		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11195G>C	1.37:g.152276167C>G	ENSP00000357789:p.Gly3732Ala		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G3732A	ENST00000368799.1	37	c.11195	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	4.938	0.174300	0.09391	.	.	ENSG00000143631	ENST00000368799	T	0.01629	4.72	3.76	1.83	0.25207	.	.	.	.	.	T	0.00468	0.0015	L	0.38838	1.175	0.09310	N	1	B	0.27656	0.184	B	0.29267	0.1	T	0.43540	-0.9385	9	0.08599	T	0.76	.	5.1646	0.15079	0.0:0.6692:0.2124:0.1184	.	3732	P20930	FILA_HUMAN	A	3732	ENSP00000357789:G3732A	ENSP00000357789:G3732A	G	-	2	0	FLG	150542791	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-2.146000	0.01294	0.377000	0.24735	0.552000	0.68991	GGA	FLG	-	NULL	ENSG00000143631		0.612	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	165	0	C	NM_002016		152276167	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	47.10	82	73	SNP	0.002	G	G	152276167	C	G	152276167	3	3	2	1	0	0	0	0	1	0	0	0	5944	855	30	5	994	5	FLG	1	152276167	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	1119285	152276167	96974454	12	433											
PBXIP1	57326	genome.wustl.edu	37	chr1	154924334	154924334	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggggctgtgaggggcctGcagggctctctcagattctg	5	9	18	9	0	3	2	1	1	2	1	4	3	3	3	1	6	1	3	1	6	0	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:154924334G>A	ENST00000368463.3	-	3	186	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Nonsense_Mutation_p.Q39*|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_Nonsense_Mutation_p.Q10*	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	39					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.Q39*(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAGGGGCCTGCAGGGCTCTC	0.587																																																	1	Substitution - Nonsense(1)	large_intestine(1)											115	121	119					1																	154924334		2203	4300	6503	SO:0001587	stop_gained	0			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"pre-B-cell leukemia transcription factor interacting protein 1"			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.115C>T	1.37:g.154924334G>A	ENSP00000357448:p.Gln39*		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Nonsense_Mutation	SNP	NULL	p.Q39*	ENST00000368463.3	37	c.115	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042308	0.35989	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000368460	.	.	.	4.67	1.74	0.24563	.	1.095830	0.07120	N	0.843794	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-2.3962	3.9578	0.09398	0.1993:0.0:0.6132:0.1875	.	.	.	.	X	10;39;39;39	.	ENSP00000295523:Q39X	Q	-	1	0	PBXIP1	153190958	0.004000	0.15560	0.000000	0.03702	0.017000	0.09413	1.417000	0.34770	0.191000	0.20236	-0.324000	0.08512	CAG	PBXIP1	-	NULL	ENSG00000163346		0.587	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	-	0	46	0	G	NM_020524		154924334	-1	tier1	-	no_errors	ENST00000490230	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.001	A	A	154924334	G	A	154924334	4	1	2	1	0	0	0	0	0	1	0	0	11535	1328	46	3	2116	3	PBXIP1	1	154924334	Nonsense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	2648167	154924334	94326287	13	434											
GON4L	54856	genome.wustl.edu	37	chr1	155735241	155735241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatcacaaatatcacgCtcaggggatccactgatttc	12	11	7	11	1	4	1	4	1	0	0	6	2	5	2	1	2	0	1	1	2	2	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:155735241C>T	ENST00000368331.1	-	21	4071	c.4023G>A	c.(4021-4023)gaG>gaA	p.E1341E	GON4L_ENST00000437809.1_Silent_p.E1341E|GON4L_ENST00000271883.5_Silent_p.E1341E|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Silent_p.E1341E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1341					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAATATCACGCTCAGGGGATC	0.483																																																	0													113	108	110					1																	155735241		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4023G>A	1.37:g.155735241C>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1341	ENST00000368331.1	37	c.4023		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	47	0	C	NM_032292		155735241	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	silent	12.50	56	8	SNP	0.025	T	T	155735241	C	T	155735241	2	4	2	1	0	0	0	0	0	0	0	1	6598	796	28	3		3	GON4L	1	155735241	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	810907	155735241	93515380	14	435											
PYHIN1	149628	genome.wustl.edu	37	chr1	158911856	158911856	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggtactaaatgcaacAaaagtatttaaatatgaatc	18	11	7	5	1	0	1	0	1	0	0	1	2	0	1	0	1	3	3	0	1	11	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:158911856A>C	ENST00000368140.1	+	5	914	c.669A>C	c.(667-669)acA>acC	p.T223T	PYHIN1_ENST00000368138.3_Silent_p.T214T|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Silent_p.T214T|PYHIN1_ENST00000392254.2_Silent_p.T223T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	223	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TAAATGCAACAAAAGTATTTA	0.393																																																	0													69	70	70					1																	158911856		2203	4300	6503	SO:0001819	synonymous_variant	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.669A>C	1.37:g.158911856A>C			Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.T223	ENST00000368140.1	37	c.669	CCDS1178.1	1																																																																																			PYHIN1	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163564		0.393	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	-	0	49	0	A	NM_152501		158911856	1	tier1	-	no_errors	ENST00000368140	ensembl	human	known	74_37	silent	57.41	23	31	SNP	0.001	C	C	158911856	A	C	158911856	2	2	2	1	0	0	0	0	0	0	0	1	12910	117	5	4		4	PYHIN1	1	158911856	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	3176615	158911856	90338765	15	436											
SELE	6401	genome.wustl.edu	37	chr1	169702096	169702096	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcataagtcatagcttccgtGgaggtgttgtaagaccaggc	10	11	12	8	1	2	1	2	0	0	1	3	2	3	2	2	3	1	3	2	3	3	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:169702096G>T	ENST00000333360.7	-	3	220	c.81C>A	c.(79-81)tcC>tcA	p.S27S	SELE_ENST00000367779.4_Silent_p.S27S|SELE_ENST00000367782.4_Silent_p.S27S|SELE_ENST00000367775.1_Silent_p.S27S|SELE_ENST00000367777.1_Silent_p.S27S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Silent_p.S27S|SELE_ENST00000367781.4_Silent_p.S27S|SELE_ENST00000367780.4_Silent_p.S27S|SELE_ENST00000367776.1_Silent_p.S27S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	27	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TAGCTTCCGTGGAGGTGTTGT	0.413																																																	0													111	104	107					1																	169702096		2203	4300	6503	SO:0001819	synonymous_variant	0			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.81C>A	1.37:g.169702096G>T			A2RRD6|P16111	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.S27	ENST00000333360.7	37	c.81	CCDS1283.1	1																																																																																			SELE	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000007908		0.413	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1	-	0	31	0	G	NM_000450		169702096	-1	tier1	-	no_errors	ENST00000333360	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.001	T	T	169702096	G	T	169702096	2	4	2	1	0	0	0	0	0	0	0	1	14058	1335	47	3		3	SELE	1	169702096	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	10790240	169702096	79548525	16	437											
CACNA1E	777	genome.wustl.edu	37	chr1	181752856	181752856	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagctgaggacatgacGgtccacttcacctccacact	10	8	8	15	1	1	2	1	2	0	0	3	3	3	3	4	2	1	2	4	2	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:181752856G>C	ENST00000367573.2	+	40	5406	c.5406G>C	c.(5404-5406)acG>acC	p.T1802T	CACNA1E_ENST00000360108.3_Silent_p.T1783T|CACNA1E_ENST00000357570.5_Silent_p.T1753T|CACNA1E_ENST00000367570.1_Silent_p.T1802T|CACNA1E_ENST00000526775.1_Silent_p.T1783T|CACNA1E_ENST00000358338.5_Silent_p.T1734T|CACNA1E_ENST00000367567.4_Silent_p.T1409T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1802					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGACATGACGGTCCACTTCA	0.448																																																	0													105	102	103					1																	181752856		1997	4170	6167	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5406G>C	1.37:g.181752856G>C			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.T1802	ENST00000367573.2	37	c.5406	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.448	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	89	0	G	NM_000721		181752856	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	6.09	108	7	SNP	0.014	C	C	181752856	G	C	181752856	2	2	2	1	0	0	0	0	0	0	0	1	2549	1103	39	5		5	CACNA1E	1	181752856	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	12050760	181752856	67497765	17	438											
C1orf74	148304	genome.wustl.edu	37	chr1	209956263	209956263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcgggttctgaggtccttCtcccaggtgtttagaatgtc	7	14	11	9	1	2	2	0	1	2	1	6	2	3	2	2	3	0	2	2	3	3	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:209956263C>T	ENST00000294811.1	-	2	973	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	239										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		TGAGGTCCTTCTCCCAGGTGT	0.502																																																	0													86	93	91					1																	209956263		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.717G>A	1.37:g.209956263C>T				Silent	SNP	NULL	p.E239	ENST00000294811.1	37	c.717	CCDS1491.1	1																																																																																			C1orf74	-	NULL	ENSG00000162757		0.502	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf74	HGNC	protein_coding	OTTHUMT00000088745.1	-	0	36	0	C	NM_152485		209956263	-1	tier1	-	no_errors	ENST00000294811	ensembl	human	known	74_37	silent	42.59	31	23	SNP	0.225	T	T	209956263	C	T	209956263	2	4	2	1	0	0	0	0	0	0	0	1	2065	912	32	3		3	C1orf74	1	209956263	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	28203407	209956263	39294358	18	439											
SLC35F3	148641	genome.wustl.edu	37	chr1	234040847	234040847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggattcgagagtttcccagCggcgcacccaggggcaagag	9	5	16	11	3	0	2	0	0	0	2	2	4	1	3	2	4	1	3	2	4	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:234040847C>A	ENST00000366618.3	+	1	169	c.24C>A	c.(22-24)agC>agA	p.S8R		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTTTCCCAGCGGCGCACCCA	0.716																																																	0													21	22	22					1																	234040847		2179	4246	6425	SO:0001583	missense	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.24C>A	1.37:g.234040847C>A	ENSP00000355577:p.Ser8Arg		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6	p.S8R	ENST00000366618.3	37	c.24	CCDS1600.1	1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.547875	0.27652	.	.	ENSG00000183780	ENST00000366618	T	0.47528	0.84	4.3	1.16	0.20824	.	1.966020	0.03099	U	0.160892	T	0.44435	0.1293	.	.	.	0.80722	D	1	B	0.20368	0.044	B	0.20184	0.028	T	0.14559	-1.0468	9	0.66056	D	0.02	-1.1785	10.731	0.46096	0.4991:0.5009:0.0:0.0	.	8	Q8IY50-2	.	R	8	ENSP00000355577:S8R	ENSP00000355577:S8R	S	+	3	2	SLC35F3	232107470	0.999000	0.42202	0.999000	0.59377	0.500000	0.33767	0.257000	0.18369	0.052000	0.16007	-0.537000	0.04273	AGC	SLC35F3	-	NULL	ENSG00000183780		0.716	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000092579.2	-	0	29	0	C	NM_173508		234040847	1	tier1	-	no_errors	ENST00000366618	ensembl	human	novel	74_37	missense	10.87	41	5	SNP	1.000	A	A	234040847	C	A	234040847	3	1	2	1	0	0	0	0	1	0	0	0	14635	767	27	2	26	2	SLC35F3	1	234040847	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	24084584	234040847	15209774	19	440											
CHML	1122	genome.wustl.edu	37	chr1	241797460	241797460	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcttcctcgtttatttCtgtttcagtatacggagtga	8	18	8	7	2	3	1	1	1	2	0	5	2	4	2	1	1	1	4	1	1	4	8			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:241797460C>A	ENST00000366553.1	-	1	1772	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	537					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCGTTTATTTCTGTTTCAGTA	0.383																																																	0													70	68	69					1																	241797460		2202	4298	6500	SO:0001587	stop_gained	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1609G>T	1.37:g.241797460C>A	ENSP00000355511:p.Glu537*		B2RAB9|Q17RE0|Q9H1Y4	Nonsense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.E537*	ENST00000366553.1	37	c.1609	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.126216	0.94429	.	.	ENSG00000203668	ENST00000366553	.	.	.	4.55	3.64	0.41730	.	0.841216	0.10485	U	0.669091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-6.6236	7.0648	0.25145	0.0:0.8055:0.0:0.1945	.	.	.	.	X	537	.	ENSP00000355511:E537X	E	-	1	0	CHML	239864083	0.977000	0.34250	0.482000	0.27366	0.419000	0.31324	2.412000	0.44609	1.536000	0.49237	0.655000	0.94253	GAA	CHML	-	pirsf_Rab_geranylTrfase_A_euk	ENSG00000203668		0.383	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1	-	0	54	0	C	NM_001821		241797460	-1	tier1	-	no_errors	ENST00000366553	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.791	A	A	241797460	C	A	241797460	4	1	2	1	0	0	0	0	0	1	0	0	3358	922	32	3	365	3	CHML	1	241797460	Nonsense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	7756613	241797460	7453161	20	441											
EXO1	9156	genome.wustl.edu	37	chr1	242016687	242016687	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccaatcttcttaagggAaagcaacttcttcgtgaggg	12	10	10	9	1	3	1	0	1	3	0	4	2	3	2	1	2	3	1	1	2	5	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:242016687A>G	ENST00000366548.3	+	6	902	c.309A>G	c.(307-309)ggA>ggG	p.G103G	EXO1_ENST00000348581.5_Silent_p.G103G|EXO1_ENST00000518483.1_Silent_p.G103G|EXO1_ENST00000493702.1_3'UTR	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	103					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTCTTAAGGGAAAGCAACTTC	0.398								Editing and processing nucleases																																									0													84	90	88					1																	242016687		2203	4300	6503	SO:0001819	synonymous_variant	0			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.309A>G	1.37:g.242016687A>G			O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.G103	ENST00000366548.3	37	c.309	CCDS1620.1	1																																																																																			EXO1	-	NULL	ENSG00000174371		0.398	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXO1	HGNC	protein_coding	OTTHUMT00000096405.1	-	0	35	0	A	NM_006027		242016687	1	tier1	-	no_errors	ENST00000348581	ensembl	human	known	74_37	silent	29.41	36	15	SNP	1.000	G	G	242016687	A	G	242016687	2	3	2	1	0	0	0	0	0	0	0	1	5316	233	9	4		4	EXO1	1	242016687	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	219227	242016687	7233934	21	442											
OR2T34	127068	genome.wustl.edu	37	chr1	248737683	248737683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaacagcagcatatcggtCataggccatggcagccagga	13	5	12	11	1	1	0	1	0	0	0	2	1	1	1	2	4	4	4	2	4	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr1:248737683C>T	ENST00000328782.2	-	1	397	c.376G>A	c.(376-378)Gac>Aac	p.D126N		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCATATCGGTCATAGGCCATG	0.557																																																	0													29	31	30					1																	248737683		2135	4235	6370	SO:0001583	missense	0			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.376G>A	1.37:g.248737683C>T	ENSP00000330904:p.Asp126Asn		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D126N	ENST00000328782.2	37	c.376	CCDS31120.1	1	.	.	.	.	.	.	.	.	.	.	.	18.49	3.634287	0.67130	.	.	ENSG00000183310	ENST00000328782	T	0.18016	2.24	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42517	0.1206	H	0.95780	3.72	0.31239	N	0.69545	P	0.51653	0.947	P	0.51324	0.666	T	0.60393	-0.7272	9	0.72032	D	0.01	.	11.5675	0.50813	0.0:1.0:0.0:0.0	.	126	Q8NGX1	O2T34_HUMAN	N	126	ENSP00000330904:D126N	ENSP00000330904:D126N	D	-	1	0	OR2T34	246804306	1.000000	0.71417	0.520000	0.27837	0.156000	0.22039	5.936000	0.70153	1.154000	0.42482	0.389000	0.25775	GAC	OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183310		0.557	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	-	0	58	0	C	NM_001001821		248737683	-1	tier1	-	no_errors	ENST00000328782	ensembl	human	known	74_37	missense	11.11	96	12	SNP	1.000	T	T	248737683	C	T	248737683	3	4	2	1	0	0	0	0	1	0	0	0	11064	826	29	3	584	3	OR2T34	1	248737683	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	6720996	248737683	512938	22	443											
SOX11	6664	genome.wustl.edu	37	chr2	5833176	5833176	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggagcggctgcggctcaAgcacatggccgactaccccg	7	4	15	15	5	1	0	1	0	0	0	1	2	1	1	3	5	4	3	3	5	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:5833176A>C	ENST00000322002.3	+	1	378	c.323A>C	c.(322-324)aAg>aCg	p.K108T	AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	108					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTGCGGCTCAAGCACATGGCC	0.627																																																	0													29	35	33					2																	5833176		2203	4300	6503	SO:0001583	missense	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.323A>C	2.37:g.5833176A>C	ENSP00000322568:p.Lys108Thr		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.K108T	ENST00000322002.3	37	c.323	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293062	0.80914	.	.	ENSG00000176887	ENST00000322002	D	0.98164	-4.76	2.82	2.82	0.32997	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000001	D	0.98460	0.9487	M	0.79011	2.435	0.58432	D	0.999998	D	0.57571	0.98	D	0.67548	0.952	D	0.98160	1.0446	10	0.49607	T	0.09	.	11.2381	0.48953	1.0:0.0:0.0:0.0	.	108	P35716	SOX11_HUMAN	T	108	ENSP00000322568:K108T	ENSP00000322568:K108T	K	+	2	0	SOX11	5750627	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.691000	0.91279	1.271000	0.44313	0.391000	0.25812	AAG	SOX11	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	ENSG00000176887		0.627	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	-	0	42	0	A	NM_003108		5833176	1	tier1	-	no_errors	ENST00000322002	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	C	C	5833176	A	C	5833176	3	2	2	1	0	0	0	0	1	0	0	0	14987	72	3	4	325	4	SOX11	2	5833176	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09		5833176	237366197	23	444											
IFT172	26160	genome.wustl.edu	37	chr2	27669161	27669161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcatagaaggctttgTctacaggtagtagctgggtg	8	13	13	7	0	2	1	1	0	1	1	2	1	2	1	0	3	3	5	0	3	5	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:27669161T>C	ENST00000260570.3	-	43	4824	c.4721A>G	c.(4720-4722)gAc>gGc	p.D1574G	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1574					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.D1574G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GAAGGCTTTGTCTACAGGTAG	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)											92	84	87					2																	27669161		2203	4300	6503	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4721A>G	2.37:g.27669161T>C	ENSP00000260570:p.Asp1574Gly		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.D1574G	ENST00000260570.3	37	c.4721	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428223	0.83667	.	.	ENSG00000138002	ENST00000260570	T	0.72167	-0.63	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87584	0.2486	10	0.87932	D	0	-20.7145	12.422	0.55525	0.0:0.0:0.0:1.0	.	1574	Q9UG01	IF172_HUMAN	G	1574	ENSP00000260570:D1574G	ENSP00000260570:D1574G	D	-	2	0	IFT172	27522665	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.122000	0.77169	1.974000	0.57490	0.459000	0.35465	GAC	IFT172	-	NULL	ENSG00000138002		0.473	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	-	0	44	0	T	NM_015662		27669161	-1	tier1	-	no_errors	ENST00000260570	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	C	C	27669161	T	C	27669161	3	2	2	1	0	0	0	0	1	0	0	0	7584	1667	58	4	552	4	IFT172	2	27669161	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	21835985	27669161	215530212	24	445											
BIRC6	57448	genome.wustl.edu	37	chr2	32693120	32693120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagaatctgcaaaccaGccagaaattgaccagcattt	15	7	10	9	0	1	3	0	1	1	2	1	5	1	3	3	1	4	2	3	1	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:32693120G>C	ENST00000421745.2	+	28	5855	c.5721G>C	c.(5719-5721)caG>caC	p.Q1907H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1907					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGCAAACCAGCCAGAAATTG	0.393																																					Pancreas(94;175 1509 16028 18060 45422)												0													61	61	61					2																	32693120		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5721G>C	2.37:g.32693120G>C	ENSP00000393596:p.Gln1907His		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.Q1907H	ENST00000421745.2	37	c.5721	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153417	0.57259	.	.	ENSG00000115760	ENST00000421745	T	0.76709	-1.04	5.9	1.31	0.21738	.	0.063428	0.64402	D	0.000004	D	0.83885	0.5351	L	0.58101	1.795	0.48762	D	0.9997	D	0.61697	0.99	D	0.72982	0.979	D	0.83929	0.0305	10	0.66056	D	0.02	.	13.2389	0.59985	0.2417:0.0:0.7583:0.0	.	1907	Q9NR09	BIRC6_HUMAN	H	1907	ENSP00000393596:Q1907H	ENSP00000393596:Q1907H	Q	+	3	2	BIRC6	32546624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.777000	0.47717	0.333000	0.23563	-0.156000	0.13503	CAG	BIRC6	-	NULL	ENSG00000115760		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	55	0	G	NM_016252		32693120	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	C	C	32693120	G	C	32693120	3	2	2	1	0	0	0	0	1	0	0	0	1440	962	34	5	5831	5	BIRC6	2	32693120	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	5023959	32693120	210506253	25	446											
EML4	27436	genome.wustl.edu	37	chr2	42490326	42490326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttccttctagcataaaacGaccatcaccagctgaaaagt	14	10	6	11	1	2	1	1	1	1	0	3	2	3	1	3	0	3	3	3	0	5	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:42490326G>A	ENST00000318522.5	+	5	783	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	EML4_ENST00000401738.3_Missense_Mutation_p.R174Q|EML4_ENST00000402711.2_Missense_Mutation_p.R116Q	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	174					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGCATAAAACGACCATCACCA	0.318			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													64	63	64					2																	42490326		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.521G>A	2.37:g.42490326G>A	ENSP00000320663:p.Arg174Gln		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R174Q	ENST00000318522.5	37	c.521	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905442	0.52333	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;D	0.97752	0.97;1.04;-4.52	5.36	4.46	0.54185	.	0.291939	0.23107	N	0.051849	D	0.95834	0.8644	L	0.57536	1.79	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.007	D	0.93547	0.6883	10	0.49607	T	0.09	-0.2523	11.2706	0.49136	0.1568:0.0:0.8432:0.0	.	116;174	B5MCW9;Q9HC35	.;EMAL4_HUMAN	Q	174;116;174	ENSP00000320663:R174Q;ENSP00000385059:R116Q;ENSP00000384939:R174Q	ENSP00000320663:R174Q	R	+	2	0	EML4	42343830	1.000000	0.71417	0.980000	0.43619	0.895000	0.52256	2.425000	0.44723	1.219000	0.43474	0.558000	0.71614	CGA	EML4	-	NULL	ENSG00000143924		0.318	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	56	0	G	NM_019063		42490326	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.997	A	A	42490326	G	A	42490326	3	1	2	1	0	0	0	0	1	0	0	0	5115	1058	37	1	539	1	EML4	2	42490326	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	9797206	42490326	200709047	26	447											
C2orf86	51057	genome.wustl.edu	37	chr2	63631537	63631537	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtttcataaagaattaGcgaagaatcttcacagccca	15	10	8	8	1	3	3	2	1	1	2	3	4	3	3	1	0	2	1	1	0	6	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:63631537G>C	ENST00000272321.7	-	10	1608	c.1081C>G	c.(1081-1083)Cta>Gta	p.L361V	WDPCP_ENST00000398544.3_Missense_Mutation_p.L202V|WDPCP_ENST00000409562.3_Missense_Mutation_p.L361V|WDPCP_ENST00000409120.1_Missense_Mutation_p.L169V|WDPCP_ENST00000409199.1_Missense_Mutation_p.L169V|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	361					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TAAAGAATTAGCGAAGAATCT	0.443																																																	0													118	112	114					2																	63631537		1925	4146	6071	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1081C>G	2.37:g.63631537G>C	ENSP00000272321:p.Leu361Val		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.L361V	ENST00000272321.7	37	c.1081	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.063954	0.00386	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.4	-0.99	0.10238	WD40/YVTN repeat-like-containing domain (1);	0.662303	0.14866	N	0.293831	T	0.13072	0.0317	N	0.02916	-0.46	0.09310	N	0.999999	B;B;B;B	0.13145	0.004;0.0;0.007;0.003	B;B;B;B	0.21708	0.016;0.001;0.036;0.007	T	0.27020	-1.0086	10	0.08381	T	0.77	-0.0876	2.7886	0.05381	0.0966:0.3333:0.3021:0.2679	.	169;361;361;202	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	V	361;169;169;202;361	ENSP00000272321:L361V;ENSP00000386592:L169V;ENSP00000386769:L169V;ENSP00000381552:L202V;ENSP00000387222:L361V	ENSP00000272321:L361V	L	-	1	2	WDPCP	63485041	0.000000	0.05858	0.963000	0.40424	0.417000	0.31264	-2.689000	0.00832	-0.154000	0.11118	-0.340000	0.08031	CTA	WDPCP	-	pfam_DUF3312,superfamily_WD40_repeat_dom	ENSG00000143951		0.443	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	-	0	53	0	G	NM_015910		63631537	-1	tier1	-	no_errors	ENST00000272321	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.046	C	C	63631537	G	C	63631537	3	2	2	1	0	0	0	0	1	0	0	0	2208	962	34	5	1195	5	C2orf86	2	63631537	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	21141211	63631537	179567836	27	448											
ACTR2	10097	genome.wustl.edu	37	chr2	65467072	65467072	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattatcagatcaaccacCaaagtgggaaacattgaaat	17	9	6	9	0	2	2	2	1	0	1	2	3	2	3	3	1	2	0	3	1	6	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:65467072C>G	ENST00000260641.5	+	2	292	c.135C>G	c.(133-135)acC>acG	p.T45T	ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Silent_p.T45T	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	45					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GATCAACCACCAAAGTGGGAA	0.343																																																	0													73	71	72					2																	65467072		2203	4300	6503	SO:0001819	synonymous_variant	0			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"ARP2 (actin-related protein 2, yeast) homolog"			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.135C>G	2.37:g.65467072C>G			B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.T45	ENST00000260641.5	37	c.135	CCDS1881.1	2																																																																																			ACTR2	-	pfam_Actin-related,smart_Actin-related	ENSG00000138071		0.343	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	-	0	69	0	C	NM_001005386		65467072	1	tier1	-	no_errors	ENST00000377982	ensembl	human	known	74_37	silent	11.69	68	9	SNP	1.000	G	G	65467072	C	G	65467072	2	3	2	1	0	0	0	0	0	0	0	1	211	581	21	5		5	ACTR2	2	65467072	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	1835535	65467072	177732301	28	449											
WDR92	116143	genome.wustl.edu	37	chr2	68384441	68384441	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatctcgtacagctgaatGacgccggtgccccgtgcgaa	8	8	13	12	5	1	2	0	2	1	0	2	4	1	3	3	2	4	2	3	2	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:68384441G>T	ENST00000295121.6	-	1	251	c.135C>A	c.(133-135)gtC>gtA	p.V45V	WDR92_ENST00000492039.2_Intron|WDR92_ENST00000409164.1_Silent_p.V45V|WDR92_ENST00000406245.2_Intron|RP11-474G23.1_ENST00000406334.3_3'UTR|PNO1_ENST00000263657.2_5'Flank	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	45					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ACAGCTGAATGACGCCGGTGC	0.607																																																	0													69	67	68					2																	68384441		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"WD repeat domain containing"	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.135C>A	2.37:g.68384441G>T			Q96CR6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V45	ENST00000295121.6	37	c.135	CCDS1884.1	2																																																																																			WDR92	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom	ENSG00000243667		0.607	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR92	HGNC	protein_coding	OTTHUMT00000251754.2	-	0	48	0	G	NM_138458		68384441	-1	tier1	-	no_errors	ENST00000295121	ensembl	human	known	74_37	silent	11.36	39	5	SNP	1.000	T	T	68384441	G	T	68384441	2	4	2	1	0	0	0	0	0	0	0	1	17388	1277	45	3		3	WDR92	2	68384441	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	2917369	68384441	174814932	29	450											
DNAH6	1768	genome.wustl.edu	37	chr2	84806758	84806758	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttccaactactaccacAgaatatgttcatagcttatt	12	16	4	9	0	1	1	1	0	0	1	2	1	2	1	2	0	4	3	2	0	7	9			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:84806758A>T	ENST00000237449.6	+	13	2192	c.2184A>T	c.(2182-2184)acA>acT	p.T728T	DNAH6_ENST00000398278.2_Silent_p.T728T|DNAH6_ENST00000389394.3_Silent_p.T728T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	728	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTACTACCACAGAATATGTTC	0.348																																																	0													111	105	107					2																	84806758		2203	4300	6503	SO:0001819	synonymous_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.2184A>T	2.37:g.84806758A>T			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T728	ENST00000237449.6	37	c.2184	CCDS46348.1	2																																																																																			DNAH6	-	NULL	ENSG00000115423		0.348	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	52	0	A	NM_001370		84806758	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	68.00	16	34	SNP	1.000	T	T	84806758	A	T	84806758	2	4	2	1	0	0	0	0	0	0	0	1	4619	175	7	5		5	DNAH6	2	84806758	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	16422317	84806758	158392615	30	451											
SAP130	79595	genome.wustl.edu	37	chr2	128699639	128699639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtcccgttcttgttaaGcagcttcaggacacggtctt	8	12	10	11	2	3	0	1	0	2	0	4	2	4	1	1	2	2	4	1	2	1	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:128699639G>T	ENST00000259235.3	-	20	3217	c.3088C>A	c.(3088-3090)Ctt>Att	p.L1030I	SAP130_ENST00000259234.6_Missense_Mutation_p.L1038I|SAP130_ENST00000357702.5_Missense_Mutation_p.L1065I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1030	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTCTTGTTAAGCAGCTTCAGG	0.403																																																	0													176	157	164					2																	128699639		2203	4300	6503	SO:0001583	missense	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3088C>A	2.37:g.128699639G>T	ENSP00000259235:p.Leu1030Ile		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.L1065I	ENST00000259235.3	37	c.3193	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	.	15.86	2.957090	0.53293	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	6.17	6.17	0.99709	.	0.061993	0.64402	D	0.000003	T	0.58177	0.2104	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.53619	0.961;0.961;0.961;0.961	P;P;P;P	0.52066	0.6;0.689;0.689;0.689	T	0.51787	-0.8661	9	0.31617	T	0.26	-17.7116	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1065;1030;595;667	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	I	1065;1030;1038	.	ENSP00000259234:L1038I	L	-	1	0	SAP130	128416109	1.000000	0.71417	0.215000	0.23724	0.001000	0.01503	5.230000	0.65321	2.941000	0.99782	0.655000	0.94253	CTT	SAP130	-	NULL	ENSG00000136715		0.403	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	-	0	37	0	G	NM_024545		128699639	-1	tier1	-	no_errors	ENST00000357702	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	128699639	G	T	128699639	3	4	2	1	0	0	0	0	1	0	0	0	13876	971	34	3	62	3	SAP130	2	128699639	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	43892881	128699639	114499734	31	452											
UBR3	130507	genome.wustl.edu	37	chr2	170735085	170735085	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtggattcttcagatgagGtgagatttaaagttcaaaac	15	12	10	4	0	3	3	2	2	1	2	3	5	3	4	0	2	1	1	0	2	5	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:170735085G>T	ENST00000272793.5	+	5	1088		c.e5+1		UBR3_ENST00000418381.1_Splice_Site			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)						embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTCAGATGAGGTGAGATTTAA	0.303																																																	0													100	84	89					2																	170735085		692	1591	2283	SO:0001630	splice_region_variant	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.1038+1G>T	2.37:g.170735085G>T			B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Splice_Site	SNP	-	e5+1	ENST00000272793.5	37	c.1038+1		2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090167	0.76756	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5035	0.95105	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UBR3	170443331	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.355000	0.73041	2.674000	0.91012	0.655000	0.94253	.	UBR3	-	-	ENSG00000144357		0.303	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	-	0	81	0	G	NM_172070	Intron	170735085	1	tier1	-	no_errors	ENST00000272793	ensembl	human	known	74_37	splice_site	6.52	86	6	SNP	1.000	T	T	170735085	G	T	170735085	5	4	2	1	0	0	0	0	0	0	1	0	16952	1275	44	3	1057	3	UBR3	2	170735085	Splice_Site	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	42035446	170735085	72464288	32	453											
TTN	7273	genome.wustl.edu	37	chr2	179427214	179427214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctggtttctcccacttaAttgtagctgtattacgggtc	6	18	8	9	1	2	0	0	0	2	0	4	0	2	0	1	2	2	4	1	2	4	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:179427214A>G	ENST00000591111.1	-	276	78946	c.78722T>C	c.(78721-78723)aTt>aCt	p.I26241T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I18942T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I18817T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I27882T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I19009T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I25314T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26241	Fibronectin type-III 91. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCCACTTAATTGTAGCTGT	0.458																																																	0													66	65	66					2																	179427214		1901	4133	6034	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78722T>C	2.37:g.179427214A>G	ENSP00000465570:p.Ile26241Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I25314T	ENST00000591111.1	37	c.75941		2	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066633	0.36470	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.7	5.7	0.88788	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52025	0.1709	M	0.63843	1.955	0.46678	D	0.999152	P;P;P;P	0.36354	0.549;0.549;0.549;0.549	B;B;B;B	0.34038	0.174;0.174;0.174;0.174	T	0.58418	-0.7640	9	0.87932	D	0	.	15.9431	0.79773	1.0:0.0:0.0:0.0	.	18817;18942;19009;26241	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	25314;18817;19009;18942;18815	ENSP00000343764:I25314T;ENSP00000434586:I18817T;ENSP00000340554:I19009T;ENSP00000352154:I18942T	ENSP00000340554:I19009T	I	-	2	0	TTN	179135460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.167000	0.68274	0.533000	0.62120	ATT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	80	0	A	NM_133378		179427214	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	10.99	81	10	SNP	1.000	G	G	179427214	A	G	179427214	3	3	2	1	0	0	0	0	1	0	0	0	16784	101	4	4	24482	4	TTN	2	179427214	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	8692129	179427214	63772159	33	454											
TTN	7273	genome.wustl.edu	37	chr2	179535885	179535885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggagggatgattttctcaGatatctcaggcccttcaaag	10	13	10	8	0	3	2	3	1	2	1	5	4	3	4	1	3	0	0	1	3	2	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:179535885G>A	ENST00000591111.1	-	152	34342	c.34118C>T	c.(34117-34119)tCt>tTt	p.S11373F	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S11747F|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S10446F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11373	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTTTCTCAGATATCTCAGG	0.373																																																	0													109	94	99					2																	179535885		1792	4064	5856	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34118C>T	2.37:g.179535885G>A	ENSP00000465570:p.Ser11373Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S10446F	ENST00000591111.1	37	c.31337		2	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755425	0.49362	.	.	ENSG00000155657	ENST00000342992;ENST00000541862	T	0.63913	-0.07	5.93	5.93	0.95920	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49338	0.1551	N	0.22421	0.69	0.58432	D	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.45934	-0.9227	9	0.87932	D	0	.	12.8079	0.57624	0.0772:0.0:0.9228:0.0	.	11373	Q8WZ42	TITIN_HUMAN	F	10446;49	ENSP00000343764:S10446F	ENSP00000343764:S10446F	S	-	2	0	TTN	179244130	0.001000	0.12720	0.947000	0.38551	0.979000	0.70002	0.902000	0.28459	2.814000	0.96858	0.563000	0.77884	TCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	85	0	G	NM_133378		179535885	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	16.88	62	13	SNP	0.540	A	A	179535885	G	A	179535885	3	1	2	1	0	0	0	0	1	0	0	0	16784	942	33	3	69296	3	TTN	2	179535885	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	108671	179535885	63663488	34	455											
TTN	7273	genome.wustl.edu	37	chr2	179549103	179549103	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagttacagcaacaagaacTttttcttcctgggtaatttg	11	16	7	7	0	1	1	0	0	1	1	2	1	2	1	1	1	4	3	1	1	6	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:179549103T>A	ENST00000591111.1	-	130	31949	c.31725A>T	c.(31723-31725)aaA>aaT	p.K10575N	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K10892N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9648N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAAGAACTTTTTCTTCCT	0.388																																																	0													112	103	106					2																	179549103		1826	4076	5902	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31725A>T	2.37:g.179549103T>A	ENSP00000465570:p.Lys10575Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K9648N	ENST00000591111.1	37	c.28944		2	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261925	0.39995	.	.	ENSG00000155657	ENST00000342992	T	0.70282	-0.47	5.65	3.22	0.36961	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.57784	0.2077	N	0.19112	0.55	0.80722	D	1	P	0.35468	0.503	B	0.39299	0.296	T	0.57130	-0.7864	9	0.87932	D	0	.	9.9028	0.41357	0.0:0.2012:0.0:0.7988	.	10575	Q8WZ42	TITIN_HUMAN	N	9648	ENSP00000343764:K9648N	ENSP00000343764:K9648N	K	-	3	2	TTN	179257348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.490000	0.35573	0.404000	0.25506	-0.314000	0.08810	AAA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	51	0	T	NM_133378		179549103	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	13.95	74	12	SNP	1.000	A	A	179549103	T	A	179549103	3	1	2	1	0	0	0	0	1	0	0	0	16784	1606	56	5	71777	5	TTN	2	179549103	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	13218	179549103	63650270	35	456											
ITGA4	3676	genome.wustl.edu	37	chr2	182400231	182400231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacagttggagttatatcAacagtaaaagcaatgatgat	17	10	10	4	0	1	3	1	2	0	1	1	5	1	4	0	1	2	4	0	1	6	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:182400231A>G	ENST00000397033.2	+	28	3506	c.3076A>G	c.(3076-3078)Aac>Gac	p.N1026D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	1026					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAGTTATATCAACAGTAAAAG	0.318																																																	0													138	138	138					2																	182400231		1824	4080	5904	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.3076A>G	2.37:g.182400231A>G	ENSP00000380227:p.Asn1026Asp		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.N1026D	ENST00000397033.2	37	c.3076	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887331	0.33348	.	.	ENSG00000115232	ENST00000397033	T	0.64438	-0.1	5.24	4.09	0.47781	.	0.233745	0.51477	D	0.000100	T	0.38374	0.1038	N	0.08118	0	0.30186	N	0.799913	B	0.06786	0.001	B	0.08055	0.003	T	0.28744	-1.0034	10	0.25106	T	0.35	.	10.4156	0.44320	0.9233:0.0:0.0767:0.0	.	1026	P13612	ITA4_HUMAN	D	1026	ENSP00000380227:N1026D	ENSP00000380227:N1026D	N	+	1	0	ITGA4	182108476	1.000000	0.71417	0.888000	0.34837	0.419000	0.31324	3.403000	0.52615	1.966000	0.57179	0.460000	0.39030	AAC	ITGA4	-	NULL	ENSG00000115232		0.318	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	-	0	37	0	A			182400231	1	tier1	-	no_errors	ENST00000397033	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.964	G	G	182400231	A	G	182400231	3	3	2	1	0	0	0	0	1	0	0	0	7905	130	5	4	3186	4	ITGA4	2	182400231	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	2851128	182400231	60799142	36	457											
COL3A1	1281	genome.wustl.edu	37	chr2	189859455	189859456	+	Missense_Mutation	DNP	GG	GG	TT																															ttttttttttttcagggtgaGgctggtattccaggtgttcc																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:189859455_189859456GG>TT	ENST00000304636.3	+	20	1523_1524	c.1353_1354GG>TT	c.(1351-1356)gaGGct>gaTTct	p.451_452EA>DS	COL3A1_ENST00000317840.5_Missense_Mutation_p.451_452EA>DS	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	451	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TTCAGGGTGAGGCTGGTATTCC	0.396																																																	0																																										SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	Exception_encountered	2.37:g.189859455_189859456delinsTT	ENSP00000304408:p.E451_A452delinsDS		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E451D|p.A452S	ENST00000304636.3	37	c.1353|c.1354	CCDS2297.1	2																																																																																			COL3A1	-	NULL	ENSG00000168542		0.396	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0	26	0	G	NM_000090		189859455|189859456	1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	missense	62.86	13	22	SNP	1.000	T	TT	189859456	GG	TT	189859455	3	4	2	1	0	0	0	0	1	0	0	0	3695	991	35	3	1431	3	COL3A1	2	189859455	Missense_Mutation	DNP	GG	TCGA-2H-A9GG-01A-11D-A37C-09	7459224	189859455	53339918	37	458											
CPS1	1373	genome.wustl.edu	37	chr2	211521345	211521345	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaaaccatcagccaagggGccattgaaaaggtcatcatt	15	7	8	11	0	3	1	3	1	0	0	3	1	3	1	3	3	2	0	3	3	4	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:211521345G>C	ENST00000233072.5	+	30	3851	c.3655G>C	c.(3655-3657)Gcc>Ccc	p.A1219P	CPS1_ENST00000430249.2_Missense_Mutation_p.A1225P|CPS1_ENST00000451903.2_Missense_Mutation_p.A768P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1219	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAGCCAAGGGGCCATTGAAAA	0.418																																																	0													64	64	64					2																	211521345		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3655G>C	2.37:g.211521345G>C	ENSP00000233072:p.Ala1219Pro		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.A1225P	ENST00000233072.5	37	c.3673	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357977	0.82243	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97186	-4.28;-4.28;-4.28	6.08	6.08	0.98989	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	M	0.79475	2.455	0.80722	D	1	P;B	0.40107	0.703;0.395	B;B	0.43990	0.438;0.438	D	0.97470	1.0040	10	0.87932	D	0	-3.8303	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1229;1219	Q59HF8;P31327	.;CPSM_HUMAN	P	1225;1227;1219;768	ENSP00000402608:A1225P;ENSP00000233072:A1219P;ENSP00000406136:A768P	ENSP00000233072:A1219P	A	+	1	0	CPS1	211229590	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.281000	0.95811	2.894000	0.99253	0.655000	0.94253	GCC	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	70	0	G			211521345	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	23.81	64	20	SNP	1.000	C	C	211521345	G	C	211521345	3	2	2	1	0	0	0	0	1	0	0	0	3830	1203	42	5	3795	5	CPS1	2	211521345	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	21661890	211521345	31678028	38	459											
FN1	2335	genome.wustl.edu	37	chr2	216284107	216284107	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctctgaatcctggcattgGtctaaaatacatggaaggaa	13	11	10	7	0	2	1	0	1	2	0	4	3	3	3	1	4	1	1	1	4	6	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:216284107G>A	ENST00000359671.1	-	12	1942	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	FN1_ENST00000432072.2_Splice_Site_p.D559D|FN1_ENST00000357009.2_Splice_Site_p.D559D|FN1_ENST00000354785.4_Splice_Site_p.D559D|FN1_ENST00000323926.6_Splice_Site_p.D559D|FN1_ENST00000356005.4_Splice_Site_p.D559D|FN1_ENST00000446046.1_Splice_Site_p.D559D|FN1_ENST00000421182.1_Splice_Site_p.D559D|FN1_ENST00000346544.3_Splice_Site_p.D559D|FN1_ENST00000345488.5_Splice_Site_p.D559D|FN1_ENST00000336916.4_Splice_Site_p.D559D|FN1_ENST00000443816.1_Splice_Site_p.D559D|FN1_ENST00000426059.1_Splice_Site_p.D559D|FN1_ENST00000357867.4_Splice_Site_p.D559D			P02751	FINC_HUMAN	fibronectin 1	559	Collagen-binding.|Fibronectin type-I 9. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CCTGGCATTGGTCTAAAATAC	0.388																																																	0													87	82	84					2																	216284107		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1676-1C>T	2.37:g.216284107G>A			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.D559	ENST00000359671.1	37	c.1677		2																																																																																			FN1	-	smart_Fibronectin_type1,pfscan_Fibronectin_type1	ENSG00000115414		0.388	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	51	0	G	NM_212476	Silent	216284107	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.998	A	A	216284107	G	A	216284107	5	1	2	1	0	0	0	0	0	0	1	0	5984	1275	44	3	5929	3	FN1	2	216284107	Splice_Site	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	4762762	216284107	26915266	39	460											
MFF	56947	genome.wustl.edu	37	chr2	228205046	228205046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaagagagcggtctatGagtgaaaatgctgttcgcca	14	9	11	7	2	1	3	0	2	1	1	2	4	1	3	1	1	2	2	1	1	6	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr2:228205046G>T	ENST00000353339.3	+	6	909	c.468G>T	c.(466-468)atG>atT	p.M156I	MFF_ENST00000524634.1_Start_Codon_SNP_p.M1I|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000337110.7_Missense_Mutation_p.M130I|MFF_ENST00000409616.1_Missense_Mutation_p.M130I|MFF_ENST00000354503.6_Missense_Mutation_p.M130I|MFF_ENST00000409565.1_Missense_Mutation_p.M130I|MFF_ENST00000349901.7_Missense_Mutation_p.M130I|MFF_ENST00000304593.9_Missense_Mutation_p.M130I|MFF_ENST00000392059.1_Missense_Mutation_p.M156I	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	156					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGCGGTCTATGAGTGAAAATG	0.408																																																	0													88	82	84					2																	228205046		2203	4300	6503	SO:0001583	missense	0			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.468G>T	2.37:g.228205046G>T	ENSP00000302037:p.Met156Ile		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.M156I	ENST00000353339.3	37	c.468	CCDS2465.1	2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304972	0.60305	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000530359;ENST00000531278;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000534203;ENST00000524634;ENST00000349901;ENST00000392059;ENST00000456345	T;T	0.30448	1.53;1.53	5.95	5.95	0.96441	.	0.133303	0.64402	D	0.000001	T	0.37652	0.1011	L	0.47716	1.5	0.37751	D	0.925974	B;P;B;B;B;P	0.45348	0.274;0.57;0.07;0.27;0.366;0.856	B;B;B;B;B;P	0.49887	0.079;0.169;0.033;0.136;0.071;0.625	T	0.07481	-1.0770	10	0.21540	T	0.41	-12.4608	15.8273	0.78725	0.0:0.135:0.865:0.0	.	130;130;130;130;130;156	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	I	130;156;130;1;1;130;130;130;130;1;1;130;156;13	ENSP00000302037:M156I;ENSP00000375912:M156I	ENSP00000304898:M130I	M	+	3	0	MFF	227913290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.806000	0.62569	2.824000	0.97209	0.655000	0.94253	ATG	MFF	-	pfam_FATE/Miff/Tango-11	ENSG00000168958		0.408	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2	-	0	72	0	G	NM_020194		228205046	1	tier1	-	no_errors	ENST00000353339	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	228205046	G	T	228205046	3	4	2	1	0	0	0	0	1	0	0	0	9557	1290	45	3	482	3	MFF	2	228205046	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	11920939	228205046	14994327	40	461											
RAF1	5894	genome.wustl.edu	37	chr3	12653482	12653482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtctgaacactgcaCagcactctggttgcaggccc	10	7	12	12	0	2	2	0	1	2	1	2	3	2	2	1	3	4	4	1	3	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:12653482C>A	ENST00000251849.4	-	3	726	c.287G>T	c.(286-288)tGt>tTt	p.C96F	RAF1_ENST00000542177.1_Intron|RAF1_ENST00000442415.2_Missense_Mutation_p.C96F|RAF1_ENST00000534997.1_5'Flank	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	96	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	GAACACTGCACAGCACTCTGG	0.448			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																															Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													176	169	172					3																	12653482		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.287G>T	3.37:g.12653482C>A	ENSP00000251849:p.Cys96Phe		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.C96F	ENST00000251849.4	37	c.287	CCDS2612.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786259	0.90282	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427	D;D;T	0.85013	-1.85;-1.93;-1.22	5.77	5.77	0.91146	Raf-like Ras-binding (3);	0.000000	0.85682	D	0.000000	D	0.93334	0.7875	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93551	0.6886	10	0.87932	D	0	.	19.9922	0.97370	0.0:1.0:0.0:0.0	.	96	P04049	RAF1_HUMAN	F	96;96;8	ENSP00000251849:C96F;ENSP00000401888:C96F;ENSP00000398591:C8F	ENSP00000251849:C96F	C	-	2	0	RAF1	12628482	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.810000	0.86072	2.740000	0.93945	0.557000	0.71058	TGT	RAF1	-	pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd	ENSG00000132155		0.448	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAF1	HGNC	protein_coding	OTTHUMT00000252015.2	-	0	35	0	C	NM_002880		12653482	-1	tier1	-	no_errors	ENST00000442415	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A	A	12653482	C	A	12653482	3	1	2	1	0	0	0	0	1	0	0	0	13047	478	17	3	1719	3	RAF1	3	12653482	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		12653482	185368948	41	462											
PLCL2	23228	genome.wustl.edu	37	chr3	17051594	17051594	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggtacctaatttcttaTggaaaacatacacttgatat	13	14	6	8	1	1	1	0	1	1	0	1	2	1	2	1	2	4	1	1	2	7	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:17051594T>G	ENST00000418129.2	+	2	843	c.378T>G	c.(376-378)taT>taG	p.Y126*	PLCL2_ENST00000396755.2_Nonsense_Mutation_p.Y126*|PLCL2_ENST00000432376.1_Nonsense_Mutation_p.Y126*|PLCL2_ENST00000460467.1_Intron	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	252					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TAATTTCTTATGGAAAACATA	0.393																																																	0													101	103	103					3																	17051594		2203	4300	6503	SO:0001587	stop_gained	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.378T>G	3.37:g.17051594T>G	ENSP00000409637:p.Tyr126*		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.Y126*	ENST00000418129.2	37	c.378	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	T	38	7.179519	0.98118	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.513	0.44872	0.0:0.0759:0.0:0.9241	.	.	.	.	X	126;253;126;126	.	.	Y	+	3	2	PLCL2	17026598	0.973000	0.33851	1.000000	0.80357	0.986000	0.74619	0.101000	0.15251	2.028000	0.59812	0.459000	0.35465	TAT	PLCL2	-	smart_Pleckstrin_homology	ENSG00000154822		0.393	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	-	0	31	0	T			17051594	1	tier1	-	no_errors	ENST00000418129	ensembl	human	known	74_37	nonsense	10.87	41	5	SNP	1.000	G	G	17051594	T	G	17051594	4	3	2	1	0	0	0	0	0	1	0	0	12079	1471	51	4	756	4	PLCL2	3	17051594	Nonsense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	4398112	17051594	180970836	42	463											
TBC1D5	9779	genome.wustl.edu	37	chr3	17447964	17447964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcccattaatccccttCtgccttattgttgccaagta	8	14	6	13	0	1	0	0	0	1	0	2	0	2	0	5	0	4	3	5	0	4	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:17447964C>T	ENST00000253692.7	-	5	1886	c.222G>A	c.(220-222)caG>caA	p.Q74Q	TBC1D5_ENST00000446818.2_Silent_p.Q74Q|TBC1D5_ENST00000429924.2_Silent_p.Q26Q|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Silent_p.Q74Q	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	74						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TAATCCCCTTCTGCCTTATTG	0.363																																																	0													192	183	186					3																	17447964		2203	4300	6503	SO:0001819	synonymous_variant	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.222G>A	3.37:g.17447964C>T			A6NP25|C9JP52	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q74	ENST00000253692.7	37	c.222	CCDS33714.1	3																																																																																			TBC1D5	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000131374		0.363	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	-	0	68	0	C	NM_014744		17447964	-1	tier1	-	no_errors	ENST00000253692	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	T	T	17447964	C	T	17447964	2	4	2	1	0	0	0	0	0	0	0	1	15670	912	32	3		3	TBC1D5	3	17447964	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	396370	17447964	180574466	43	464											
KIF15	56992	genome.wustl.edu	37	chr3	44847376	44847376	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatcagagcttcagtctttGcaaaaagcgaaccttaatct	14	11	7	9	1	4	1	2	0	2	1	4	3	4	1	1	0	4	2	1	0	5	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:44847376G>A	ENST00000326047.4	+	16	2018	c.1869G>A	c.(1867-1869)ttG>ttA	p.L623L	KIF15_ENST00000425755.1_Silent_p.L258L	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	623					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TTCAGTCTTTGCAAAAAGCGA	0.348																																																	0													106	122	117					3																	44847376		2203	4300	6503	SO:0001819	synonymous_variant	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1869G>A	3.37:g.44847376G>A			Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L623	ENST00000326047.4	37	c.1869	CCDS33744.1	3																																																																																			KIF15	-	NULL	ENSG00000163808		0.348	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0	65	0	G			44847376	1	tier1	-	no_errors	ENST00000326047	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.996	A	A	44847376	G	A	44847376	2	1	2	1	0	0	0	0	0	0	0	1	8304	1310	46	3		3	KIF15	3	44847376	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	27399412	44847376	153175054	44	465											
PBRM1	55193	genome.wustl.edu	37	chr3	52663017	52663017	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatcacactccaaatgatCtaaagtttcatattcttgat	14	14	4	9	0	4	3	2	2	2	1	5	3	5	3	1	0	0	1	1	0	4	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:52663017C>G	ENST00000296302.7	-	12	1337	c.1336G>C	c.(1336-1338)Gat>Cat	p.D446H	PBRM1_ENST00000394830.3_Missense_Mutation_p.D446H|PBRM1_ENST00000409057.1_Missense_Mutation_p.D446H|PBRM1_ENST00000410007.1_Missense_Mutation_p.D446H|PBRM1_ENST00000409767.1_Missense_Mutation_p.D446H|PBRM1_ENST00000337303.4_Missense_Mutation_p.D446H|PBRM1_ENST00000409114.3_Missense_Mutation_p.D446H|PBRM1_ENST00000356770.4_Missense_Mutation_p.D414H			Q86U86	PB1_HUMAN	polybromo 1	446	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCAAATGATCTAAAGTTTCA	0.328			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													82	75	77					3																	52663017		2203	4300	6503	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1336G>C	3.37:g.52663017C>G	ENSP00000296302:p.Asp446His		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.D446H	ENST00000296302.7	37	c.1336		3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436873	0.83885	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.38	5.38	0.77491	Bromodomain (6);Bromodomain, conserved site (1);	0.052468	0.85682	D	0.000000	T	0.44074	0.1276	L	0.31845	0.965	0.80722	D	1	B;D;D;B;P;D;D;D;D	0.71674	0.05;0.981;0.991;0.318;0.94;0.991;0.998;0.976;0.976	B;P;P;B;P;P;P;P;P	0.61132	0.015;0.623;0.686;0.046;0.596;0.825;0.884;0.686;0.686	T	0.34700	-0.9818	10	0.59425	D	0.04	-8.5918	19.1293	0.93399	0.0:1.0:0.0:0.0	.	446;446;446;446;446;446;446;414;446	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	H	414;446;446;446;446;446;446;446;446;390	ENSP00000349213:D414H;ENSP00000378307:D446H;ENSP00000296302:D446H;ENSP00000338302:D446H;ENSP00000386593:D446H;ENSP00000386529:D446H;ENSP00000386643:D446H;ENSP00000386601:D446H;ENSP00000387775:D446H;ENSP00000397662:D390H	ENSP00000296302:D446H	D	-	1	0	PBRM1	52638057	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.532000	0.85374	0.467000	0.42956	GAT	PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000163939		0.328	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0	48	0	C	NM_018165		52663017	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	G	G	52663017	C	G	52663017	3	3	2	1	0	0	0	0	1	0	0	0	11530	913	32	5	3640	5	PBRM1	3	52663017	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	7815641	52663017	145359413	45	466											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64587823	64587823	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcactccgatcgatcaCgtggtcactgtagttgacac	10	10	8	13	3	3	1	3	1	0	0	5	3	4	1	1	1	0	2	1	1	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:64587823C>G	ENST00000498707.1	-	26	4156	c.3814G>C	c.(3814-3816)Gtg>Ctg	p.V1272L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1244L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1272	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V1272M(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGATCGATCACGTGGTCACTG	0.517																																																	2	Substitution - Missense(2)	ovary(1)|endometrium(1)											178	151	160					3																	64587823		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3814G>C	3.37:g.64587823C>G	ENSP00000418735:p.Val1272Leu		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1272L	ENST00000498707.1	37	c.3814	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680716	0.29872	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.51325	0.71;0.71	5.55	4.68	0.58851	.	0.219427	0.38837	N	0.001549	T	0.26484	0.0647	N	0.17248	0.465	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.14023	0.004;0.01;0.009	T	0.10200	-1.0640	10	0.19147	T	0.46	.	5.3157	0.15854	0.0:0.6111:0.162:0.2269	.	1244;1272;1272	B7ZVX9;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	L	1244;1272	ENSP00000295903:V1244L;ENSP00000418735:V1272L	ENSP00000295903:V1244L	V	-	1	0	ADAMTS9	64562863	0.746000	0.28272	0.525000	0.27900	0.812000	0.45895	1.898000	0.39809	1.586000	0.49944	0.591000	0.81541	GTG	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.517	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	33	0	C			64587823	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.977	G	G	64587823	C	G	64587823	3	3	2	1	0	0	0	0	1	0	0	0	273	536	19	5	2049	5	ADAMTS9	3	64587823	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	11924806	64587823	133434607	46	467											
OR5K3	403277	genome.wustl.edu	37	chr3	98109982	98109982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaacctgcatcccatgaTtgaagtagagtttctgttga	10	13	10	8	0	1	4	0	3	1	1	2	4	2	4	2	1	2	5	2	1	3	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:98109982T>C	ENST00000383695.1	+	1	473	c.473T>C	c.(472-474)aTt>aCt	p.I158T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CATCCCATGATTGAAGTAGAG	0.423																																																	0													158	151	153					3																	98109982		2203	4300	6503	SO:0001583	missense	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.473T>C	3.37:g.98109982T>C	ENSP00000373194:p.Ile158Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158T	ENST00000383695.1	37	c.473	CCDS33803.1	3	.	.	.	.	.	.	.	.	.	.	T	2.737	-0.263096	0.05754	.	.	ENSG00000206536	ENST00000383695	T	0.38077	1.16	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.151633	0.30791	N	0.008879	T	0.31544	0.0800	L	0.45228	1.405	0.09310	N	1	B	0.22983	0.078	B	0.24006	0.05	T	0.21690	-1.0238	10	0.45353	T	0.12	-39.748	11.6377	0.51213	0.0:0.0:0.0:1.0	.	158	A6NET4	OR5K3_HUMAN	T	158	ENSP00000373194:I158T	ENSP00000373194:I158T	I	+	2	0	OR5K3	99592672	0.002000	0.14202	0.010000	0.14722	0.059000	0.15707	1.277000	0.33167	2.043000	0.60533	0.491000	0.48974	ATT	OR5K3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000206536		0.423	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	HGNC	protein_coding	OTTHUMT00000359110.1	-	0	39	0	T			98109982	1	tier1	-	no_errors	ENST00000383695	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.004	C	C	98109982	T	C	98109982	3	2	2	1	0	0	0	0	1	0	0	0	11207	1493	52	4	475	4	OR5K3	3	98109982	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	33522159	98109982	99912448	47	468											
GOLGB1	2804	genome.wustl.edu	37	chr3	121415546	121415546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtgtgatgctgttctgtgGctttgaataaaggttcttct	7	17	12	5	0	3	2	0	2	3	0	3	3	3	2	0	2	1	4	0	2	3	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:121415546G>T	ENST00000340645.5	-	13	3934	c.3809C>A	c.(3808-3810)gCc>gAc	p.A1270D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A1275D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1270					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGTTCTGTGGCTTTGAATAA	0.478																																																	0													165	151	156					3																	121415546		2203	4300	6503	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.3809C>A	3.37:g.121415546G>T	ENSP00000341848:p.Ala1270Asp		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.A1270D	ENST00000340645.5	37	c.3809	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	7.494	0.651203	0.14516	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.24350	2.48;2.46;1.86	5.88	3.88	0.44766	.	0.644287	0.14477	N	0.317211	T	0.20740	0.0499	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.21606	0.058;0.058;0.015;0.015;0.001	B;B;B;B;B	0.25884	0.064;0.064;0.013;0.013;0.003	T	0.29458	-1.0011	10	0.14252	T	0.57	.	10.6072	0.45400	0.0:0.2173:0.6451:0.1376	.	1195;1234;1275;1275;1270	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	D	1270;1275;1234	ENSP00000341848:A1270D;ENSP00000377275:A1275D;ENSP00000418231:A1234D	ENSP00000341848:A1270D	A	-	2	0	GOLGB1	122898236	0.023000	0.18921	0.307000	0.25127	0.837000	0.47467	1.186000	0.32078	0.614000	0.30107	0.655000	0.94253	GCC	GOLGB1	-	NULL	ENSG00000173230		0.478	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	44	0	G	NM_004487		121415546	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.067	T	T	121415546	G	T	121415546	3	4	2	1	0	0	0	0	1	0	0	0	6591	1203	42	3	6010	3	GOLGB1	3	121415546	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	23305564	121415546	76606884	48	469											
PPP2R3A	5523	genome.wustl.edu	37	chr3	135742018	135742018	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttcacggtttaagaagcGgctgaagtcatttcagcaga	11	10	10	10	2	3	3	3	1	0	2	3	3	3	3	1	2	2	3	1	2	3	4	rs374006910		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:135742018G>A	ENST00000264977.3	+	3	2612				PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.R36Q	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha						eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTTAAGAAGCGGCTGAAGTCA	0.388																																																	0								G	,,GLN/ARG	0,4406		0,0,2203	117	120	119		,,107	6.1	1	3		119	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense	PPP2R3A	NM_001190447.1,NM_002718.4,NM_181897.2	,,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,,36/530	135742018	1,13005	2203	4300	6503	SO:0001627	intron_variant	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1996-3656G>A	3.37:g.135742018G>A			A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.R36Q	ENST00000264977.3	37	c.107	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023515	0.93462	0.0	1.16E-4	ENSG00000073711	ENST00000334546	T	0.16073	2.37	6.07	6.07	0.98685	.	.	.	.	.	T	0.36386	0.0965	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.01133	-1.1441	9	0.14656	T	0.56	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	36	Q06190-2	.	Q	36	ENSP00000334748:R36Q	ENSP00000334748:R36Q	R	+	2	0	PPP2R3A	137224708	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.885000	0.99019	0.655000	0.94253	CGG	PPP2R3A	-	NULL	ENSG00000073711		0.388	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	-	0	43	0	G	NM_002718		135742018	1	tier1	-	no_errors	ENST00000334546	ensembl	human	known	74_37	missense	53.33	21	24	SNP	1.000	A	A	135742018	G	A	135742018	1	1	2	0	1	0	0	0	0	0	0	0	12430	1116	39	1		1	PPP2R3A	3	135742018	Intron	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	14326472	135742018	62280412	49	470											
CLRN1	7401	genome.wustl.edu	37	chr3	150690475	150690475	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggccatgcaaaaaatgatTttcttctgttggcttggcat	9	14	9	9	1	2	1	0	1	2	0	2	1	2	1	2	3	1	4	2	3	3	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:150690475T>G	ENST00000327047.1	-	1	311	c.21A>C	c.(19-21)aaA>aaC	p.K7N	CLRN1-AS1_ENST00000465576.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.K7N|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	7			K -> I (in dbSNP:rs3796241).		actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AAAAAATGATTTTCTTCTGTT	0.502																																																	0													78	75	76					3																	150690475		2203	4300	6503	SO:0001583	missense	0			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.21A>C	3.37:g.150690475T>G	ENSP00000322280:p.Lys7Asn		D3DNJ3|E1ACU9|Q8N6A9	Missense_Mutation	SNP	NULL	p.K7N	ENST00000327047.1	37	c.21	CCDS3153.1	3	.	.	.	.	.	.	.	.	.	.	T	16.60	3.169185	0.57584	.	.	ENSG00000163646	ENST00000327047;ENST00000328863	T;T	0.78924	-1.22;-1.22	5.55	0.106	0.14540	.	0.100721	0.64402	D	0.000002	T	0.73179	0.3554	M	0.71581	2.175	0.43292	D	0.995273	P	0.44734	0.842	B	0.40165	0.321	T	0.72947	-0.4137	10	0.54805	T	0.06	1.6611	11.4763	0.50300	0.0:0.3562:0.0:0.6438	.	7	P58418	CLRN1_HUMAN	N	7	ENSP00000322280:K7N;ENSP00000329158:K7N	ENSP00000322280:K7N	K	-	3	2	CLRN1	152173165	0.463000	0.25799	0.999000	0.59377	0.994000	0.84299	0.526000	0.22971	0.096000	0.17463	0.533000	0.62120	AAA	CLRN1	-	NULL	ENSG00000163646		0.502	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN1	HGNC	protein_coding	OTTHUMT00000277060.1	-	0	27	0	T			150690475	-1	tier1	-	no_errors	ENST00000328863	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.946	G	G	150690475	T	G	150690475	3	3	2	1	0	0	0	0	1	0	0	0	3564	1838	64	4	743	4	CLRN1	3	150690475	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	14948457	150690475	47331955	50	471											
GPR149	344758	genome.wustl.edu	37	chr3	154146552	154146554	+	Missense_Mutation	TNP	CCC	CCC	AAG																															ctcacgcctgcaggcttcagCcccagcggcagcgggcgcac																								rs200348882		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:154146552_154146554CCC>AAG	ENST00000389740.2	-	1	950_952	c.851_853GGG>CTT	c.(850-855)gGGGct>gCTTct	p.284_285GA>AS		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	284					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAGGCTTCAGCCCCAGCGGCAGC	0.665																																																	0																																										SO:0001583	missense	0			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.851_853GGG>CTT	3.37:g.154146552CCC>AAG	ENSP00000374390:p.G284_A285delinsAS			Missense_Mutation|Silent|Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A285S|p.G284|p.G284A	ENST00000389740.2	37	c.853|c.852|c.851	CCDS43162.1	3																																																																																			GPR149	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174948		0.665	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	-	0	40|40|39	0	C	XM_293580		154146552|154146553|154146554	-1	tier1	-	no_errors	ENST00000389740	ensembl	human	known	74_37	missense|silent|missense	39.39	20	13	SNP	0.885|0.890|0.048	A|A|G	AAG	154146554	CCC	AAG	154146552	3	1	2	1	0	0	0	0	1	0	0	0	6680	739	26	3	1358	3	GPR149	3	154146552	Missense_Mutation	TNP	CCC	TCGA-2H-A9GG-01A-11D-A37C-09	3456077	154146552	43875878	51	472											
ZBBX	79740	genome.wustl.edu	37	chr3	166958584	166958584	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatgaacaaataatctttaAgtactctttgaccacggtag	15	13	6	7	1	2	2	0	2	2	0	2	2	2	2	1	1	2	2	1	1	7	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:166958584A>C	ENST00000392766.2	-	21	2740	c.2400T>G	c.(2398-2400)acT>acG	p.T800T	ZBBX_ENST00000392764.1_Silent_p.T771T|ZBBX_ENST00000392767.2_Silent_p.T800T|ZBBX_ENST00000307529.5_Silent_p.T839T|ZBBX_ENST00000455345.2_Silent_p.T839T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	800						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATAATCTTTAAGTACTCTTTG	0.388																																																	0													162	153	156					3																	166958584		1881	4105	5986	SO:0001819	synonymous_variant	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2400T>G	3.37:g.166958584A>C			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.T839	ENST00000392766.2	37	c.2517	CCDS3199.2	3																																																																																			ZBBX	-	NULL	ENSG00000169064		0.388	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	-	0	71	0	A	NM_024687		166958584	-1	tier1	-	no_errors	ENST00000307529	ensembl	human	known	74_37	silent	41.86	25	18	SNP	0.001	C	C	166958584	A	C	166958584	2	2	2	1	0	0	0	0	0	0	0	1	17565	59	3	4		4	ZBBX	3	166958584	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	12812032	166958584	31063846	52	473											
MECOM	2122	genome.wustl.edu	37	chr3	168833396	168833396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttggaggggactggaGtcaagggcttctcatccttt	7	11	15	8	0	2	0	2	0	1	0	4	4	3	3	1	6	0	2	1	6	1	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr3:168833396G>A	ENST00000464456.1	-	7	2900	c.1700C>T	c.(1699-1701)aCt>aTt	p.T567I	MECOM_ENST00000460814.1_Missense_Mutation_p.T567I|MECOM_ENST00000494292.1_Missense_Mutation_p.T755I|MECOM_ENST00000472280.1_Missense_Mutation_p.T568I|MECOM_ENST00000392736.3_Missense_Mutation_p.T567I|MECOM_ENST00000433243.2_Missense_Mutation_p.T568I|MECOM_ENST00000264674.3_Missense_Mutation_p.T632I|MECOM_ENST00000468789.1_Missense_Mutation_p.T567I	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGGGACTGGAGTCAAGGGCTT	0.542																																																	0													180	166	171					3																	168833396		2203	4300	6503	SO:0001583	missense	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1700C>T	3.37:g.168833396G>A	ENSP00000419770:p.Thr567Ile		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.T755I	ENST00000464456.1	37	c.2264	CCDS54669.1	3	.	.	.	.	.	.	.	.	.	.	G	7.141	0.581867	0.13749	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.07800	3.41;3.41;3.41;3.51;3.42;3.41;3.41;3.51;3.16	5.61	5.61	0.85477	.	0.651166	0.14119	N	0.340152	T	0.16811	0.0404	L	0.50333	1.59	0.58432	D	0.999998	P;P;P;P;P	0.50943	0.94;0.731;0.722;0.731;0.771	P;B;B;B;B	0.47528	0.549;0.369;0.243;0.369;0.261	T	0.01096	-1.1453	10	0.52906	T	0.07	-12.9398	19.6299	0.95698	0.0:0.0:1.0:0.0	.	755;568;755;632;567	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	I	632;567;567;568;755;567;567;568;218	ENSP00000264674:T632I;ENSP00000376493:T567I;ENSP00000419770:T567I;ENSP00000420048:T568I;ENSP00000417899:T755I;ENSP00000419995:T567I;ENSP00000420466:T567I;ENSP00000394302:T568I;ENSP00000417506:T218I	ENSP00000264674:T632I	T	-	2	0	MECOM	170316090	1.000000	0.71417	0.994000	0.49952	0.009000	0.06853	7.561000	0.82288	2.639000	0.89480	0.655000	0.94253	ACT	MECOM	-	NULL	ENSG00000085276		0.542	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	-	0	56	0	G	NM_005241, NM_004991		168833396	-1	tier1	-	no_errors	ENST00000494292	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A	A	168833396	G	A	168833396	3	1	2	1	0	0	0	0	1	0	0	0	9460	1029	36	3	1495	3	MECOM	3	168833396	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	1874812	168833396	29189034	53	474											
HTT	3064	genome.wustl.edu	37	chr4	3225799	3225799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaaagagagagaatattgCcacccatcatttatatcagg	15	11	7	8	0	3	2	3	0	0	2	3	4	3	2	2	1	1	0	2	1	5	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:3225799C>T	ENST00000355072.5	+	56	7851	c.7706C>T	c.(7705-7707)gCc>gTc	p.A2569V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2569					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.A2569V(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGAATATTGCCACCCATCAT	0.478																																																	1	Substitution - Missense(1)	skin(1)											137	147	144					4																	3225799		2115	4244	6359	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7706C>T	4.37:g.3225799C>T	ENSP00000347184:p.Ala2569Val		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.A2569V	ENST00000355072.5	37	c.7706	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063993	0.55432	.	.	ENSG00000197386	ENST00000355072	T	0.05925	3.37	5.53	5.53	0.82687	.	0.275956	0.35013	N	0.003510	T	0.09949	0.0244	L	0.44542	1.39	0.49299	D	0.999774	B	0.33583	0.418	B	0.36134	0.218	T	0.11372	-1.0590	10	0.42905	T	0.14	.	19.4679	0.94950	0.0:1.0:0.0:0.0	.	2569	P42858	HD_HUMAN	V	2569	ENSP00000347184:A2569V	ENSP00000347184:A2569V	A	+	2	0	HTT	3195597	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	4.420000	0.59841	2.611000	0.88343	0.650000	0.86243	GCC	HTT	-	NULL	ENSG00000197386		0.478	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	61	0	C	NM_002111		3225799	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	3225799	C	T	3225799	3	4	2	1	0	0	0	0	1	0	0	0	7484	739	26	3	7928	3	HTT	4	3225799	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		3225799	187928477	54	475											
CPEB2	132864	genome.wustl.edu	37	chr4	15063712	15063712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttttcaagtggaacttgCtatgatcatggaccggctgt	8	14	10	9	1	2	1	2	1	0	0	3	3	3	3	2	3	2	2	2	3	3	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:15063712C>T	ENST00000507071.1	+	10	1457	c.1370C>T	c.(1369-1371)gCt>gTt	p.A457V	CPEB2_ENST00000442003.2_Missense_Mutation_p.A875V|CPEB2_ENST00000382395.3_Missense_Mutation_p.A435V|CPEB2_ENST00000538197.1_Missense_Mutation_p.A902V|CPEB2_ENST00000345451.3_Missense_Mutation_p.A427V|CPEB2_ENST00000382401.3_Missense_Mutation_p.A430V|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000541112.1_Missense_Mutation_p.A894V|CPEB2_ENST00000259997.5_Missense_Mutation_p.A465V			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	457	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GTGGAACTTGCTATGATCATG	0.378																																																	0													134	130	132					4																	15063712		2203	4300	6503	SO:0001583	missense	0			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1370C>T	4.37:g.15063712C>T	ENSP00000424084:p.Ala457Val		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A902V	ENST00000507071.1	37	c.2705		4	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963710	0.92791	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85;1.85	4.99	4.99	0.66335	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.91635	0.987;0.997;0.987;0.996;0.999;0.986	T	0.60964	-0.7158	10	0.87932	D	0	-15.5662	18.269	0.90062	0.0:1.0:0.0:0.0	.	430;435;875;902;427;457	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	V	902;894;875;457;427;435;430;465;444;110	ENSP00000443985:A902V;ENSP00000437884:A894V;ENSP00000414270:A875V;ENSP00000424084:A457V;ENSP00000334058:A427V;ENSP00000371832:A435V;ENSP00000371838:A430V;ENSP00000259997:A465V;ENSP00000423890:A110V	ENSP00000259997:A465V	A	+	2	0	CPEB2	14672810	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.304000	0.77564	0.655000	0.94253	GCT	CPEB2	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000137449		0.378	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	-	0	55	0	C	XM_059607		15063712	1	tier1	-	no_errors	ENST00000538197	ensembl	human	known	74_37	missense	35.00	39	21	SNP	1.000	T	T	15063712	C	T	15063712	3	4	2	1	0	0	0	0	1	0	0	0	3808	797	28	3	2756	3	CPEB2	4	15063712	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	11837913	15063712	176090564	55	476											
TXK	7294	genome.wustl.edu	37	chr4	48114415	48114415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaggctaaattacagggttCtctgggcagaaaatcataaa	16	10	9	6	0	2	1	1	0	1	1	3	1	2	1	0	3	1	3	0	3	8	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:48114415C>T	ENST00000264316.4	-	4	374	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	RNU6-868P_ENST00000517241.1_RNA|TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	97	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTACAGGGTTCTCTGGGCAGA	0.488																																																	0													174	178	177					4																	48114415		2203	4300	6503	SO:0001583	missense	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.289G>A	4.37:g.48114415C>T	ENSP00000264316:p.Glu97Lys		Q14220	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E97K	ENST00000264316.4	37	c.289	CCDS3480.1	4	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265897	0.59540	.	.	ENSG00000074966	ENST00000264316;ENST00000506073	T;T	0.51071	0.72;0.72	5.12	5.12	0.69794	Src homology-3 domain (4);	0.075490	0.51477	D	0.000091	T	0.65964	0.2742	M	0.69523	2.12	0.80722	D	1	D;P	0.76494	0.999;0.624	D;B	0.79108	0.992;0.199	T	0.64433	-0.6409	10	0.40728	T	0.16	.	13.9414	0.64057	0.0:1.0:0.0:0.0	.	97;97	E7EQN8;P42681	.;TXK_HUMAN	K	97	ENSP00000264316:E97K;ENSP00000422798:E97K	ENSP00000264316:E97K	E	-	1	0	TXK	47809172	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	4.316000	0.59178	2.681000	0.91329	0.563000	0.77884	GAA	TXK	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000074966		0.488	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	-	0	56	0	C	NM_003328		48114415	-1	tier1	-	no_errors	ENST00000264316	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	48114415	C	T	48114415	3	4	2	1	0	0	0	0	1	0	0	0	16835	922	32	3	1342	3	TXK	4	48114415	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	33050703	48114415	143039861	56	477											
DCUN1D4	23142	genome.wustl.edu	37	chr4	52777318	52777318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatctggcccctttttcCagtttttcaccaattcttag	10	16	4	11	0	3	0	1	0	2	0	4	0	4	0	4	1	0	1	4	1	4	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:52777318C>T	ENST00000334635.5	+	9	878	c.698C>T	c.(697-699)cCa>cTa	p.P233L	DCUN1D4_ENST00000451288.2_Missense_Mutation_p.P277L|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.P173L|DCUN1D4_ENST00000381441.3_Intron	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	233	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			CCCCTTTTTCCAGTTTTTCAC	0.373																																																	0													114	111	112					4																	52777318		2203	4300	6503	SO:0001583	missense	0			D87466	CCDS3487.2, CCDS33982.1, CCDS75123.1	4q11	2013-06-10	2013-06-10		ENSG00000109184	ENSG00000109184			28998	protein-coding gene	gene with protein product		612977	"DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae)"			15988528	Standard	XM_005265731		Approved	KIAA0276	uc003gze.3	Q92564	OTTHUMG00000128700	ENST00000334635.5:c.698C>T	4.37:g.52777318C>T	ENSP00000334625:p.Pro233Leu		B4DH25|Q7Z3F3|Q7Z6B8	Missense_Mutation	SNP	pfam_PONY_dom	p.P277L	ENST00000334635.5	37	c.830	CCDS33982.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.100932	0.94245	.	.	ENSG00000109184	ENST00000334635;ENST00000381437;ENST00000451288;ENST00000510808	T;T;T	0.66815	-0.23;-0.23;-0.23	5.97	5.97	0.96955	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.77103	2.36	0.80722	D	1	P;P	0.51240	0.943;0.891	P;P	0.57009	0.811;0.628	T	0.81417	-0.0942	10	0.66056	D	0.02	-14.0658	19.4269	0.94746	0.0:1.0:0.0:0.0	.	277;233	B4DH25;Q92564	.;DCNL4_HUMAN	L	233;173;277;43	ENSP00000334625:P233L;ENSP00000370846:P173L;ENSP00000389900:P277L	ENSP00000334625:P233L	P	+	2	0	DCUN1D4	52472075	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	CCA	DCUN1D4	-	pfam_PONY_dom	ENSG00000109184		0.373	DCUN1D4-001	KNOWN	basic|CCDS	protein_coding	DCUN1D4	HGNC	protein_coding	OTTHUMT00000250599.2	-	0	99	0	C	NM_015115		52777318	1	tier1	-	no_errors	ENST00000451288	ensembl	human	known	74_37	missense	29.73	52	22	SNP	1.000	T	T	52777318	C	T	52777318	3	4	2	1	0	0	0	0	1	0	0	0	4325	594	21	3	732	3	DCUN1D4	4	52777318	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	4662903	52777318	138376958	57	478											
CENPE	1062	genome.wustl.edu	37	chr4	104080029	104080029	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttttctcctgaagttcttgGgtcttgtaagaaagctttaa	9	17	9	6	0	3	2	0	1	3	1	4	2	3	2	1	1	1	4	1	1	4	8	rs145323573		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:104080029G>T	ENST00000265148.3	-	23	2705	c.2616C>A	c.(2614-2616)acC>acA	p.T872T	CENPE_ENST00000380026.3_Silent_p.T847T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	872					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAAGTTCTTGGGTCTTGTAAG	0.373																																																	0													48	47	47					4																	104080029		2203	4298	6501	SO:0001819	synonymous_variant	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2616C>A	4.37:g.104080029G>T			A6NKY9|A8K2U7|Q4LE75	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T872	ENST00000265148.3	37	c.2616	CCDS34042.1	4																																																																																			CENPE	-	NULL	ENSG00000138778		0.373	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0	68	0	G			104080029	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.040	T	T	104080029	G	T	104080029	2	4	2	1	0	0	0	0	0	0	0	1	3237	1219	43	3		3	CENPE	4	104080029	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	51302711	104080029	87074247	58	479											
TET2	54790	genome.wustl.edu	37	chr4	106157775	106157775	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagcagaagtcacaacaAgcttcagttctacagggata	15	7	10	9	0	3	1	2	0	1	1	3	3	3	3	0	2	4	3	0	2	5	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:106157775A>G	ENST00000540549.1	+	3	3536	c.2676A>G	c.(2674-2676)caA>caG	p.Q892Q	TET2_ENST00000513237.1_Silent_p.Q913Q|TET2_ENST00000380013.4_Silent_p.Q892Q|TET2_ENST00000305737.2_Silent_p.Q892Q|TET2_ENST00000545826.1_Silent_p.Q892Q|TET2_ENST00000394764.1_Silent_p.Q892Q|TET2_ENST00000413648.2_Silent_p.Q892Q			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	892	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTCACAACAAGCTTCAGTTC	0.398			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													54	53	53					4																	106157775		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2676A>G	4.37:g.106157775A>G			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Silent	SNP	NULL	p.Q892	ENST00000540549.1	37	c.2676	CCDS47120.1	4																																																																																			TET2	-	NULL	ENSG00000168769		0.398	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0	32	0	A	NM_017628		106157775	1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	silent	20.83	19	5	SNP	0.429	G	G	106157775	A	G	106157775	2	3	2	1	0	0	0	0	0	0	0	1	15817	69	3	4		4	TET2	4	106157775	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	2077746	106157775	84996501	59	480											
LRBA	987	genome.wustl.edu	37	chr4	151935672	151935672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcattctgatgcccctGatggggagccctggtttcag	7	13	11	10	0	3	2	2	2	1	0	3	3	3	3	3	3	2	1	3	3	1	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:151935672G>A	ENST00000357115.3	-	2	366	c.123C>T	c.(121-123)atC>atT	p.I41I	LRBA_ENST00000510413.1_Silent_p.I41I|LRBA_ENST00000507224.1_Silent_p.I41I|LRBA_ENST00000535741.1_Silent_p.I41I	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	41						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGATGCCCCTGATGGGGAGCC	0.512																																																	0													60	55	56					4																	151935672		2203	4300	6503	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.123C>T	4.37:g.151935672G>A			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.I41	ENST00000357115.3	37	c.123	CCDS3773.1	4																																																																																			LRBA	-	NULL	ENSG00000198589		0.512	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	27	0	G			151935672	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	silent	29.03	22	9	SNP	1.000	A	A	151935672	G	A	151935672	2	1	2	1	0	0	0	0	0	0	0	1	8966	1280	45	3		3	LRBA	4	151935672	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	45777897	151935672	39218604	60	481											
TLR3	7098	genome.wustl.edu	37	chr4	186997831	186997831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttttgccctttgggatgCtgtgtgcatcctccaccacc	4	13	9	15	0	0	0	0	0	0	0	2	1	2	1	6	1	3	2	6	1	0	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr4:186997831C>A	ENST00000296795.3	+	2	162	c.58C>A	c.(58-60)Ctg>Atg	p.L20M		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	20					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTTTGGGATGCTGTGTGCATC	0.463																																																	0													112	102	105					4																	186997831		2203	4300	6503	SO:0001583	missense	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"CD molecules"	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.58C>A	4.37:g.186997831C>A	ENSP00000296795:p.Leu20Met		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L20M	ENST00000296795.3	37	c.58	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595874	0.46318	.	.	ENSG00000164342	ENST00000296795;ENST00000513189;ENST00000542020	T;T	0.36699	1.35;1.24	5.68	3.84	0.44239	.	0.729810	0.13234	N	0.403433	T	0.31420	0.0796	L	0.50333	1.59	0.09310	N	1	B	0.22683	0.073	B	0.26614	0.071	T	0.18999	-1.0319	10	0.38643	T	0.18	.	6.4916	0.22119	0.109:0.6256:0.1883:0.0771	.	20	O15455	TLR3_HUMAN	M	20	ENSP00000296795:L20M;ENSP00000423386:L20M	ENSP00000296795:L20M	L	+	1	2	TLR3	187234825	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	0.644000	0.24766	1.542000	0.49330	0.591000	0.81541	CTG	TLR3	-	NULL	ENSG00000164342		0.463	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	-	0	40	0	C			186997831	1	tier1	-	no_errors	ENST00000296795	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.000	A	A	186997831	C	A	186997831	3	1	2	1	0	0	0	0	1	0	0	0	15999	796	28	3	60	3	TLR3	4	186997831	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	35062159	186997831	4156445	61	482											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41045948	41045948	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcttccataaggattctTtgagcaactgttgtaggaag	11	14	10	6	0	2	2	0	2	2	0	3	4	3	4	1	2	2	3	1	2	4	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:41045948T>A	ENST00000399564.4	-	18	2186	c.1736A>T	c.(1735-1737)aAa>aTa	p.K579I	MROH2B_ENST00000506092.2_Missense_Mutation_p.K134I	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	579																	TAAGGATTCTTTGAGCAACTG	0.378																																																	0													187	177	180					5																	41045948		1943	4145	6088	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1736A>T	5.37:g.41045948T>A	ENSP00000382476:p.Lys579Ile		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K579I	ENST00000399564.4	37	c.1736	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	19.70	3.875813	0.72180	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.08896	3.04;3.04	5.51	2.97	0.34412	Armadillo-type fold (1);	0.125947	0.35903	N	0.002913	T	0.11965	0.0291	L	0.44542	1.39	0.32673	N	0.51659	D	0.58268	0.982	P	0.55545	0.778	T	0.05241	-1.0897	10	0.62326	D	0.03	.	4.1056	0.10035	0.0:0.1096:0.214:0.6764	.	579	Q7Z745	HTRB2_HUMAN	I	134;284;579	ENSP00000441504:K134I;ENSP00000382476:K579I	ENSP00000296803:K284I	K	-	2	0	HEATR7B2	41081705	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.444000	0.35068	2.085000	0.62840	0.477000	0.44152	AAA	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.378	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	69	0	T	NM_173489		41045948	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	13.25	72	11	SNP	1.000	A	A	41045948	T	A	41045948	3	1	2	1	0	0	0	0	1	0	0	0	7062	1841	64	5	3121	5	HEATR7B2	5	41045948	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09		41045948	139869312	62	483											
HCN1	348980	genome.wustl.edu	37	chr5	45262095	45262095	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggaagattctcttggAagagcagctgctggtggagg	10	9	16	6	0	1	3	0	1	1	2	2	6	1	6	0	5	3	3	0	5	2	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:45262095A>T	ENST00000303230.4	-	8	2658	c.2601T>A	c.(2599-2601)ctT>ctA	p.L867L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	867					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTCTCTTGGAAGAGCAGCTG	0.547																																																	0													72	86	81					5																	45262095		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2601T>A	5.37:g.45262095A>T				Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.L867	ENST00000303230.4	37	c.2601	CCDS3952.1	5																																																																																			HCN1	-	NULL	ENSG00000164588		0.547	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	70	0	A	NM_021072		45262095	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	62.61	43	72	SNP	0.577	T	T	45262095	A	T	45262095	2	4	2	1	0	0	0	0	0	0	0	1	7023	233	9	5		5	HCN1	5	45262095	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	4216147	45262095	135653165	63	484											
HTR1A	3350	genome.wustl.edu	37	chr5	63256806	63256806	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acactcttcttgggctgcggGgcgggagatgctccatggcg	5	9	16	11	3	2	1	0	0	2	1	3	2	3	1	1	5	2	2	1	5	0	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:63256806G>T	ENST00000323865.3	-	1	974	c.741C>A	c.(739-741)gcC>gcA	p.A247A	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	247					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGGGCTGCGGGGCGGGAGATG	0.642																																																	0													56	58	57					5																	63256806		2203	4300	6503	SO:0001819	synonymous_variant	0			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.741C>A	5.37:g.63256806G>T			Q6LAE7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.A247	ENST00000323865.3	37	c.741	CCDS34168.1	5																																																																																			HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000178394		0.642	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	-	0	55	0	G	NM_000524		63256806	-1	tier1	-	no_errors	ENST00000323865	ensembl	human	known	74_37	silent	44.90	27	22	SNP	0.012	T	T	63256806	G	T	63256806	2	4	2	1	0	0	0	0	0	0	0	1	7463	1219	43	3		3	HTR1A	5	63256806	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	17994711	63256806	117658454	64	485											
CARTPT	9607	genome.wustl.edu	37	chr5	71016354	71016354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgacgccggtgagcagtGtgcagtgaggaaaggggcaa	10	6	19	6	2	0	3	0	3	0	0	0	4	0	4	1	4	2	3	1	4	2	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:71016354G>A	ENST00000296777.4	+	3	394	c.263G>A	c.(262-264)tGt>tAt	p.C88Y	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	88					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	GGTGAGCAGTGTGCAGTGAGG	0.522																																																	0													173	139	151					5																	71016354		2203	4300	6503	SO:0001583	missense	0			U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"cocaine and amphetamine regulated transcript"	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.263G>A	5.37:g.71016354G>A	ENSP00000296777:p.Cys88Tyr		Q6FG92	Missense_Mutation	SNP	pfam_CART,superfamily_CART	p.C88Y	ENST00000296777.4	37	c.263	CCDS4011.1	5	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666352	0.67814	.	.	ENSG00000164326	ENST00000296777	T	0.71698	-0.59	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84906	0.0845	10	0.87932	D	0	.	18.0889	0.89468	0.0:0.0:1.0:0.0	.	88	Q16568	CART_HUMAN	Y	88	ENSP00000296777:C88Y	ENSP00000296777:C88Y	C	+	2	0	CARTPT	71052110	1.000000	0.71417	0.957000	0.39632	0.540000	0.34992	9.011000	0.93618	2.560000	0.86352	0.655000	0.94253	TGT	CARTPT	-	pfam_CART,superfamily_CART	ENSG00000164326		0.522	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARTPT	HGNC	protein_coding	OTTHUMT00000254029.2	-	0	44	0	G	NM_004291		71016354	1	tier1	-	no_errors	ENST00000296777	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	A	A	71016354	G	A	71016354	3	1	2	1	0	0	0	0	1	0	0	0	2666	1377	48	3	273	3	CARTPT	5	71016354	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	7759548	71016354	109898906	65	486											
ARSB	411	genome.wustl.edu	37	chr5	78135194	78135194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacggtgaagagtccaCgaagttcgggtcaatattat	12	10	10	9	3	2	2	2	1	0	1	4	3	3	2	1	2	0	1	1	2	5	3	rs570630772		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:78135194C>T	ENST00000264914.4	-	6	1734	c.1198G>A	c.(1198-1200)Gtg>Atg	p.V400M	ARSB_ENST00000565165.1_Missense_Mutation_p.V400M|ARSB_ENST00000396151.3_Missense_Mutation_p.V400M	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	400					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GAAGAGTCCACGAAGTTCGGG	0.428																																					Melanoma(169;563 1968 25780 26156 52266)												0													132	130	131					5																	78135194		2203	4300	6503	SO:0001583	missense	0			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1198G>A	5.37:g.78135194C>T	ENSP00000264914:p.Val400Met		B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.V400M	ENST00000264914.4	37	c.1198	CCDS4043.1	5	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426700	0.43020	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.97553	-4.02;-4.43	5.78	3.95	0.45737	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.073260	0.07200	N	0.857291	D	0.94765	0.8310	L	0.28649	0.875	0.22531	N	0.999013	P;P	0.50443	0.935;0.866	B;P	0.46419	0.377;0.516	D	0.87335	0.2327	10	0.36615	T	0.2	.	8.6129	0.33813	0.1572:0.7622:0.0:0.0806	.	400;400	Q8N322;P15848	.;ARSB_HUMAN	M	400	ENSP00000264914:V400M;ENSP00000379455:V400M	ENSP00000264914:V400M	V	-	1	0	ARSB	78170950	0.999000	0.42202	0.019000	0.16419	0.025000	0.11179	1.777000	0.38604	0.735000	0.32537	0.561000	0.74099	GTG	ARSB	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000113273		0.428	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSB	HGNC	protein_coding	OTTHUMT00000226932.2	-	0	47	0	C	NM_000046		78135194	-1	tier1	-	no_errors	ENST00000264914	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.661	T	T	78135194	C	T	78135194	3	4	2	1	0	0	0	0	1	0	0	0	989	536	19	1	448	1	ARSB	5	78135194	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	7118840	78135194	102780066	66	487											
APC	324	genome.wustl.edu	37	chr5	112178800	112178800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctgttcaggctggtggAtggcgaaaactcccacctaa	9	10	11	11	2	2	0	1	0	1	0	4	2	3	1	2	4	1	2	2	4	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:112178800A>G	ENST00000457016.1	+	16	7889	c.7509A>G	c.(7507-7509)ggA>ggG	p.G2503G	APC_ENST00000508376.2_Silent_p.G2503G|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.G2503G			P25054	APC_HUMAN	adenomatous polyposis coli	2503	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGGCTGGTGGATGGCGAAAAC	0.478		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)											105	87	93					5																	112178800		2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7509A>G	5.37:g.112178800A>G			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G2503	ENST00000457016.1	37	c.7509	CCDS4107.1	5																																																																																			APC	-	pfam_APC_basic_dom	ENSG00000134982		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0	34	0	A	NM_000038		112178800	1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	silent	59.26	11	16	SNP	0.091	G	G	112178800	A	G	112178800	2	3	2	1	0	0	0	0	0	0	0	1	763	320	12	4		4	APC	5	112178800	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	34043606	112178800	68736460	67	488											
PHAX	51808	genome.wustl.edu	37	chr5	125936740	125936740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccagcgacaggccgcTgcaattgccagtgagtgtga	9	6	13	13	3	0	2	0	2	0	0	0	3	0	2	3	1	3	3	3	1	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:125936740T>A	ENST00000297540.4	+	1	781	c.86T>A	c.(85-87)cTg>cAg	p.L29Q	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	29	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GACAGGCCGCTGCAATTGCCA	0.677																																																	0													40	33	36					5																	125936740		2203	4300	6503	SO:0001583	missense	0			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.86T>A	5.37:g.125936740T>A	ENSP00000297540:p.Leu29Gln		Q9H8W1	Missense_Mutation	SNP	pfam_PHAX_RNA-binding_domain	p.L29Q	ENST00000297540.4	37	c.86	CCDS4138.1	5	.	.	.	.	.	.	.	.	.	.	T	7.973	0.749579	0.15778	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.41758	0.99	4.61	2.27	0.28462	.	0.295747	0.22654	U	0.057282	T	0.22859	0.0552	L	0.28274	0.84	0.24896	N	0.992134	B	0.11235	0.004	B	0.06405	0.002	T	0.11012	-1.0605	10	0.13470	T	0.59	-31.9546	5.8099	0.18460	0.0:0.1909:0.0:0.8091	.	29	Q9H814	PHAX_HUMAN	Q	29	ENSP00000297540:L29Q	ENSP00000297540:L29Q	L	+	2	0	PHAX	125964639	0.027000	0.19231	0.996000	0.52242	0.531000	0.34715	-0.446000	0.06837	1.687000	0.51057	0.460000	0.39030	CTG	PHAX	-	NULL	ENSG00000164902		0.677	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHAX	HGNC	protein_coding	OTTHUMT00000250924.1	-	0	41	0	T	NM_032177		125936740	1	tier1	-	no_errors	ENST00000297540	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.747	A	A	125936740	T	A	125936740	3	1	2	1	0	0	0	0	1	0	0	0	11852	1580	55	5	88	5	PHAX	5	125936740	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	13757940	125936740	54978520	68	489											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221555	140221555	+	Frame_Shift_Del	DEL	G	G	-																															tattcctgacagccacagatGggggcaaacctgagctcaca																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:140221555delG	ENST00000531613.1	+	1	649	c.649delG	c.(649-651)gggfs	p.G218fs	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Frame_Shift_Del_p.G218fs|PCDHA3_ENST00000522353.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	218	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCACAGATGGGGGCAAACC	0.478																																																	0													53	54	54					5																	140221555		2203	4299	6502	SO:0001589	frameshift_variant	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.649delG	5.37:g.140221555delG	ENSP00000434655:p.Gly218fs		B9EGT7|O75281	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G218fs	ENST00000531613.1	37	c.649	CCDS54919.1	5																																																																																			PCDHA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.478	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2		0	15	0	G	NM_018911		140221555	1	tier1		no_errors	ENST00000531613	ensembl	human	known	74_37	frame_shift_del	76.67	7	23	DEL	1.000	-	-	140221555	G	-	140221555	7	5	2	1	0	1	0	1	0	0	0	0	11569	1348	47	0	651	0	PCDHA8	5	140221555	Frame_Shift_Del	DEL	G	TCGA-2H-A9GG-01A-11D-A37C-09	14284815	140221555	40693705	69	490											
PCDHA10	56139	genome.wustl.edu	37	chr5	140237609	140237609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcgagccgtcgctgaCggccacggccactgtgcttg	5	7	14	15	5	0	1	0	1	0	0	1	2	0	1	4	3	2	2	4	3	0	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:140237609C>T	ENST00000307360.5	+	1	1976	c.1976C>T	c.(1975-1977)aCg>aTg	p.T659M	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCGCTGACGGCCACGGCC	0.682																																																	0													15	20	18					5																	140237609		1319	2285	3604	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1976C>T	5.37:g.140237609C>T	ENSP00000304234:p.Thr659Met		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T659M	ENST00000307360.5	37	c.1976	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144710	0.21288	.	.	ENSG00000250120	ENST00000307360	T	0.54675	0.56	3.49	1.62	0.23740	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.44829	0.1312	M	0.68317	2.08	0.23720	N	0.99702	P;P	0.51147	0.942;0.637	B;B	0.36378	0.197;0.223	T	0.37126	-0.9719	9	0.72032	D	0.01	.	8.5147	0.33239	0.0:0.8021:0.0:0.1979	.	659;659	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	M	659	ENSP00000304234:T659M	ENSP00000304234:T659M	T	+	2	0	PCDHA10	140217793	0.072000	0.21174	0.948000	0.38648	0.416000	0.31233	1.728000	0.38105	0.259000	0.21709	0.491000	0.48974	ACG	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.682	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	83	0	C	NM_018901		140237609	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	28.33	42	17	SNP	0.990	T	T	140237609	C	T	140237609	3	4	2	1	0	0	0	0	1	0	0	0	11559	536	19	1	1978	1	PCDHA10	5	140237609	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	16054	140237609	40677651	70	491											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140798971	140798971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagagcggggtggtgttCgcgcagcgcgccttcgacca	5	6	17	13	7	0	1	0	0	0	1	2	2	0	1	2	3	2	3	2	3	0	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:140798971C>T	ENST00000398594.2	+	1	1545	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	515	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTGTTCGCGCAGCGCG	0.682																																																	0													55	61	59					5																	140798971		2121	4226	6347	SO:0001819	synonymous_variant	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1545C>T	5.37:g.140798971C>T			Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F515	ENST00000398594.2	37	c.1545	CCDS47293.1	5																																																																																			PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000254122		0.682	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	42	0	C	NM_018927		140798971	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	silent	32.14	19	9	SNP	1.000	T	T	140798971	C	T	140798971	2	4	2	1	0	0	0	0	0	0	0	1	11607	883	31	1		1	PCDHGB7	5	140798971	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	561362	140798971	40116289	71	492											
ARAP3	64411	genome.wustl.edu	37	chr5	141041788	141041788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggctgcgggcacgagcGccccctttccggtatacacc	6	7	11	17	4	1	0	1	0	0	0	2	1	2	0	4	3	3	3	4	3	2	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:141041788G>A	ENST00000239440.4	-	20	2900	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	ARAP3_ENST00000513878.1_Silent_p.G607G|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Intron	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	945	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCACGAGCGCCCCCTTTCC	0.642																																																	0													64	68	67					5																	141041788		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	24097	protein-coding gene	gene with protein product		606647	"centaurin, delta 3"	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2835C>T	5.37:g.141041788G>A			B4DIT1|D3DQE3	Silent	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.G945	ENST00000239440.4	37	c.2835	CCDS4266.1	5																																																																																			ARAP3	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000120318		0.642	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	-	0	22	0	G	NM_022481		141041788	-1	tier1	-	no_errors	ENST00000239440	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.007	A	A	141041788	G	A	141041788	2	1	2	1	0	0	0	0	0	0	0	1	840	1074	38	1		1	ARAP3	5	141041788	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	242817	141041788	39873472	72	493											
DCTN4	51164	genome.wustl.edu	37	chr5	150095148	150095148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcgtcctgaaagtctTgaggttctgccaactcatcg	9	11	10	11	2	3	2	1	2	2	0	6	3	4	3	2	2	2	1	2	2	2	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:150095148T>C	ENST00000447998.2	-	12	1263	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	DCTN4_ENST00000446090.2_Missense_Mutation_p.Q390R|DCTN4_ENST00000424236.1_Missense_Mutation_p.Q326R	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	383					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAAGTCTTGAGGTTCTGC	0.483																																																	0													150	122	131					5																	150095148		2203	4300	6503	SO:0001583	missense	0			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1148A>G	5.37:g.150095148T>C	ENSP00000416968:p.Gln383Arg		B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	pfam_Dynactin_p62	p.Q390R	ENST00000447998.2	37	c.1169	CCDS4310.1	5	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314200	0.40996	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.22336	1.96;1.96;1.96	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	L	0.39020	1.185	0.80722	D	1	B;P	0.35468	0.447;0.503	B;B	0.37833	0.168;0.259	T	0.04178	-1.0971	10	0.15499	T	0.54	-11.4695	16.5602	0.84551	0.0:0.0:0.0:1.0	.	390;383	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	R	383;326;390	ENSP00000416968:Q383R;ENSP00000411251:Q326R;ENSP00000414906:Q390R	ENSP00000411251:Q326R	Q	-	2	0	DCTN4	150075341	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	5.721000	0.68477	2.367000	0.80283	0.528000	0.53228	CAA	DCTN4	-	pfam_Dynactin_p62	ENSG00000132912		0.483	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCTN4	HGNC	protein_coding	OTTHUMT00000252372.1	-	0	40	0	T			150095148	-1	tier1	-	no_errors	ENST00000446090	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C	C	150095148	T	C	150095148	3	2	2	1	0	0	0	0	1	0	0	0	4318	1812	63	4	242	4	DCTN4	5	150095148	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	9053360	150095148	30820112	73	494											
ODZ2	57451	genome.wustl.edu	37	chr5	166712001	166712001	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctatgaccatgacagCaggatgcactatggaaaccg	14	6	11	10	1	0	2	0	2	0	0	0	4	0	4	3	3	3	2	3	3	4	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:166712001C>T	ENST00000518659.1	+	1	198	c.159C>T	c.(157-159)agC>agT	p.S53S	TENM2_ENST00000545108.1_Silent_p.S53S|CTB-180C19.1_ENST00000521697.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	53	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCATGACAGCAGGATGCACT	0.532																																																	0													90	87	88					5																	166712001		692	1591	2283	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.159C>T	5.37:g.166712001C>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S53	ENST00000518659.1	37	c.159		5																																																																																			TENM2	-	pfam_Ten_N	ENSG00000145934		0.532	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0	22	0	C	NM_001122679		166712001	1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	29.41	12	5	SNP	1.000	T	T	166712001	C	T	166712001	2	4	2	1	0	0	0	0	0	0	0	1	10874	709	25	3		3	ODZ2	5	166712001	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	16616853	166712001	14203259	74	495											
RGS14	10636	genome.wustl.edu	37	chr5	176794472	176794472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaagtccccgctgtacCgcgagtgcctgctagccgaa	7	8	11	15	5	1	0	1	0	0	0	3	2	2	0	5	0	4	3	5	0	4	2	rs572106520		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr5:176794472C>T	ENST00000408923.3	+	6	729	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	181	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGCTGTACCGCGAGTGCCT	0.677																																					NSCLC(47;353 1896 28036)												0													22	24	23					5																	176794472		1997	4168	6165	SO:0001583	missense	0			AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"Regulators of G-protein signaling"	9996	protein-coding gene	gene with protein product		602513	"regulator of G-protein signalling 14"				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.541C>T	5.37:g.176794472C>T	ENSP00000386229:p.Arg181Cys		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R181C	ENST00000408923.3	37	c.541	CCDS43405.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.922858	0.97110	.	.	ENSG00000169220	ENST00000408923	T	0.01998	4.51	4.5	4.5	0.54988	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.156527	0.45606	D	0.000346	T	0.10380	0.0254	M	0.71581	2.175	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.993	P;P;P	0.60068	0.736;0.502;0.868	T	0.01212	-1.1417	10	0.87932	D	0	-13.3491	17.3879	0.87422	0.0:1.0:0.0:0.0	.	28;28;181	O43566-5;O43566-4;O43566	.;.;RGS14_HUMAN	C	181	ENSP00000386229:R181C	ENSP00000386229:R181C	R	+	1	0	RGS14	176727078	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.731000	0.84895	2.344000	0.79699	0.313000	0.20887	CGC	RGS14	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000169220		0.677	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS14	HGNC	protein_coding	OTTHUMT00000372676.1	-	0	31	0	C	NM_006480		176794472	1	tier1	-	no_errors	ENST00000408923	ensembl	human	known	74_37	missense	6.74	83	6	SNP	1.000	T	T	176794472	C	T	176794472	3	4	2	1	0	0	0	0	1	0	0	0	13342	652	23	1	563	1	RGS14	5	176794472	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	10082471	176794472	4120788	75	496											
GMPR	2766	genome.wustl.edu	37	chr6	16247147	16247147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccatcatcgtggccaaCatggacactgtgggcacgtt	9	10	10	12	2	1	0	1	0	0	0	3	1	2	1	2	3	1	2	2	3	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr6:16247147C>T	ENST00000259727.4	+	2	276	c.162C>T	c.(160-162)aaC>aaT	p.N54N		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	54					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TCGTGGCCAACATGGACACTG	0.483																																																	0													131	119	123					6																	16247147		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.162C>T	6.37:g.16247147C>T			Q96HQ6	Silent	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.N54	ENST00000259727.4	37	c.162	CCDS4537.1	6																																																																																			GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	ENSG00000137198		0.483	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	-	0	54	0	C			16247147	1	tier1	-	no_errors	ENST00000259727	ensembl	human	known	74_37	silent	21.79	60	17	SNP	1.000	T	T	16247147	C	T	16247147	2	4	2	1	0	0	0	0	0	0	0	1	6522	477	17	3		3	GMPR	6	16247147	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		16247147	154867920	76	497											
HIST1H3D	8351	genome.wustl.edu	37	chr6	26197330	26197330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtagcggcggatctcgCgcagagccaccgtgccgggc	5	6	16	14	6	2	1	0	0	2	1	3	2	2	2	3	4	3	2	3	4	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr6:26197330C>A	ENST00000356476.2	-	1	148	c.149G>T	c.(148-150)cGc>cTc	p.R50L	HIST1H3D_ENST00000377831.5_Missense_Mutation_p.R50L|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	50					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCGGATCTCGCGCAGAGCCAC	0.637																																					GBM(108;3816 4467)												0													46	50	49					6																	26197330		2203	4300	6503	SO:0001583	missense	0			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.149G>T	6.37:g.26197330C>A	ENSP00000366999:p.Arg50Leu		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R50L	ENST00000356476.2	37	c.149	CCDS4590.1	6	.	.	.	.	.	.	.	.	.	.	.	14.46	2.542014	0.45280	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.49139	0.79;0.79	4.29	3.4	0.38934	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.34610	D	0.7175	.	.	.	.	.	.	T	0.55897	-0.8068	6	0.87932	D	0	.	13.3994	0.60874	0.0:0.8408:0.1592:0.0	.	.	.	.	L	50	ENSP00000366999:R50L;ENSP00000367062:R50L	ENSP00000366999:R50L	R	-	2	0	HIST1H3D	26305309	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	4.519000	0.60517	0.890000	0.36211	-0.176000	0.13171	CGC	HIST1H3D	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000197409		0.637	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	HGNC	protein_coding	OTTHUMT00000040096.1	-	0	108	0	C	NM_003530		26197330	-1	tier1	-	no_errors	ENST00000356476	ensembl	human	known	74_37	missense	29.93	96	41	SNP	1.000	A	A	26197330	C	A	26197330	3	1	2	1	0	0	0	0	1	0	0	0	7185	768	27	2	265	2	HIST1H3D	6	26197330	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	9950183	26197330	144917737	77	498											
MRPS18B	28973	genome.wustl.edu	37	chr6	30585679	30585679	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacaccgtgctgaggcggCttcctatgctatctctcttc	7	13	8	13	2	2	1	0	1	2	0	5	1	3	1	2	2	3	3	2	2	4	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr6:30585679C>G	ENST00000259873.4	+	1	194	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	AL662800.1_ENST00000410962.1_RNA|MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Missense_Mutation_p.L13V|PPP1R10_ENST00000376511.2_5'Flank|PPP1R10_ENST00000484449.1_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	13					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GCTGAGGCGGCTTCCTATGCT	0.493																																																	0													195	167	176					6																	30585679		2203	4300	6503	SO:0001583	missense	0			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.37C>G	6.37:g.30585679C>G	ENSP00000259873:p.Leu13Val		A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.L13V	ENST00000259873.4	37	c.37	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	C	8.448	0.852412	0.17106	.	.	ENSG00000204568	ENST00000259873;ENST00000506373;ENST00000376508	T	0.46063	0.88	5.35	-1.6	0.08426	.	1.193380	0.05808	N	0.613496	T	0.09069	0.0224	L	0.36672	1.1	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.11329	0.006;0.004;0.003	T	0.18650	-1.0330	10	0.07482	T	0.82	.	5.3573	0.16067	0.0:0.2421:0.4453:0.3126	.	13;13;13	B4DFG6;Q5STN0;Q9Y676	.;.;RT18B_HUMAN	V	13	ENSP00000259873:L13V	ENSP00000259873:L13V	L	+	1	0	MRPS18B	30693658	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	-1.627000	0.02033	-0.528000	0.06366	0.655000	0.94253	CTT	MRPS18B	-	NULL	ENSG00000204568		0.493	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	-	0	29	0	C			30585679	1	tier1	-	no_errors	ENST00000259873	ensembl	human	known	74_37	missense	66.67	26	52	SNP	0.002	G	G	30585679	C	G	30585679	3	3	2	1	0	0	0	0	1	0	0	0	9867	797	28	5	39	5	MRPS18B	6	30585679	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	4388349	30585679	140529388	78	499											
DST	667	genome.wustl.edu	37	chr6	56365903	56365903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttggcaagttcaatttcaAtggctttagggtctcctcca	8	14	9	10	0	3	0	2	0	1	0	5	0	4	0	2	3	0	4	2	3	4	5	rs575226488		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr6:56365903A>G	ENST00000361203.3	-	75	18918	c.18911T>C	c.(18910-18912)aTt>aCt	p.I6304T	DST_ENST00000370754.5_Missense_Mutation_p.I6593T|DST_ENST00000370788.2_Missense_Mutation_p.I4218T|DST_ENST00000244364.6_Missense_Mutation_p.I4001T|DST_ENST00000370769.4_Missense_Mutation_p.I6415T|DST_ENST00000446842.2_Missense_Mutation_p.I6089T|DST_ENST00000421834.2_Missense_Mutation_p.I4327T|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6303					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCAATTTCAATGGCTTTAGG	0.453													A|||	1	0.000199681	0	0	5008	,	,		16812	0		0.001	False		,,,				2504	0																0													114	110	111					6																	56365903		1959	4143	6102	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18911T>C	6.37:g.56365903A>G	ENSP00000354508:p.Ile6304Thr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.I6593T	ENST00000361203.3	37	c.19778		6	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863597	0.71949	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.88	5.88	0.94601	.	0.000000	0.53938	D	0.000049	T	0.66117	0.2757	M	0.83012	2.62	0.33464	D	0.585359	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.978;0.993	D;D;D;P;D	0.85130	0.997;0.992;0.949;0.871;0.975	T	0.71203	-0.4662	9	0.56958	D	0.05	.	16.2744	0.82636	1.0:0.0:0.0:0.0	.	4327;6415;6593;6413;4001	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	4001;6593;6415;4327;6089;4218;6304	ENSP00000244364:I4001T;ENSP00000359790:I6593T;ENSP00000359805:I6415T;ENSP00000400883:I4327T;ENSP00000393645:I6089T;ENSP00000359824:I4218T;ENSP00000354508:I6304T	ENSP00000244364:I4001T	I	-	2	0	DST	56473862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.336000	0.96533	2.237000	0.73441	0.482000	0.46254	ATT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.453	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	62	0	A	NM_001723		56365903	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	7.32	76	6	SNP	1.000	G	G	56365903	A	G	56365903	3	3	2	1	0	0	0	0	1	0	0	0	4797	101	4	4	3609	4	DST	6	56365903	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	25780224	56365903	114749164	79	500											
PHF3	23469	genome.wustl.edu	37	chr6	64421949	64421949	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggcccagtcagtgatgGaacaaaacactgttaaagaa	17	6	9	9	0	1	2	1	1	0	1	1	3	1	3	2	2	2	1	2	2	6	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr6:64421949G>T	ENST00000262043.3	+	16	4805	c.4465G>T	c.(4465-4467)Gaa>Taa	p.E1489*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.E1489*			Q92576	PHF3_HUMAN	PHD finger protein 3	1489					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTCAGTGATGGAACAAAACAC	0.378																																					GBM(135;136 1820 29512 34071 46235)												0													53	56	55					6																	64421949		2203	4300	6503	SO:0001587	stop_gained	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4465G>T	6.37:g.64421949G>T	ENSP00000262043:p.Glu1489*		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Nonsense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E1489*	ENST00000262043.3	37	c.4465	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.224351	0.99106	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	.	.	.	5.96	5.96	0.96718	.	0.000000	0.40728	N	0.001031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.26	15.521	0.75866	0.0677:0.0:0.9323:0.0	.	.	.	.	X	758;1489;1489	.	ENSP00000262043:E1489X	E	+	1	0	PHF3	64479908	0.996000	0.38824	0.940000	0.37924	0.891000	0.51852	2.668000	0.46816	2.813000	0.96785	0.655000	0.94253	GAA	PHF3	-	NULL	ENSG00000118482		0.378	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	-	0	27	0	G			64421949	1	tier1	-	no_errors	ENST00000262043	ensembl	human	known	74_37	nonsense	75.86	7	22	SNP	0.913	T	T	64421949	G	T	64421949	4	4	2	1	0	0	0	0	0	1	0	0	11875	1175	41	3	4523	3	PHF3	6	64421949	Nonsense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	8056046	64421949	106693118	80	501											
CD109	135228	genome.wustl.edu	37	chr6	74497077	74497077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatggggcaactgttcttTttcccatcaggccaacacat	10	11	9	11	0	2	0	1	0	1	0	3	1	3	1	2	4	2	2	2	4	2	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr6:74497077T>C	ENST00000287097.5	+	21	2570	c.2458T>C	c.(2458-2460)Ttt>Ctt	p.F820L	CD109_ENST00000422508.2_Missense_Mutation_p.F743L|CD109_ENST00000437994.2_Missense_Mutation_p.F820L			Q6YHK3	CD109_HUMAN	CD109 molecule	820					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACTGTTCTTTTTCCCATCAG	0.443																																																	0													107	105	106					6																	74497077		2203	4300	6503	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2458T>C	6.37:g.74497077T>C	ENSP00000287097:p.Phe820Leu		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.F820L	ENST00000287097.5	37	c.2458	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563414	0.65651	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.30448	1.53;1.77;1.54	5.45	5.45	0.79879	.	0.102871	0.64402	D	0.000002	T	0.48943	0.1528	M	0.81239	2.535	0.47214	D	0.99935	D;P;D	0.67145	0.996;0.944;0.989	P;D;P	0.65443	0.904;0.935;0.688	T	0.55560	-0.8122	10	0.66056	D	0.02	.	15.6958	0.77494	0.0:0.0:0.0:1.0	.	743;820;820	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	L	820;743;820	ENSP00000388062:F820L;ENSP00000404475:F743L;ENSP00000287097:F820L	ENSP00000287097:F820L	F	+	1	0	CD109	74553798	1.000000	0.71417	0.976000	0.42696	0.288000	0.27193	2.885000	0.48570	2.288000	0.76882	0.528000	0.53228	TTT	CD109	-	NULL	ENSG00000156535		0.443	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0	44	0	T	NM_133493		74497077	1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.976	C	C	74497077	T	C	74497077	3	2	2	1	0	0	0	0	1	0	0	0	2970	1841	64	4	2540	4	CD109	6	74497077	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	10075128	74497077	96617990	81	502											
PREP	5550	genome.wustl.edu	37	chr6	105825334	105825334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctctctttgtataaacCtctgatgggacactgctcaa	10	14	6	11	0	4	1	1	1	3	0	5	2	4	2	1	1	2	2	1	1	4	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr6:105825334C>T	ENST00000369110.3	-	3	373	c.181G>A	c.(181-183)Ggt>Agt	p.G61S		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	61					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTGTATAAACCTCTGATGGGA	0.378																																																	0													119	116	117					6																	105825334		2203	4300	6503	SO:0001583	missense	0				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.181G>A	6.37:g.105825334C>T	ENSP00000358106:p.Gly61Ser		Q8N6D4	Missense_Mutation	SNP	pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A	p.G61S	ENST00000369110.3	37	c.181	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049375	0.55218	.	.	ENSG00000085377	ENST00000369110	T	0.43688	0.94	5.76	5.76	0.90799	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (2);	0.203351	0.51477	D	0.000085	T	0.15132	0.0365	N	0.12471	0.22	0.49798	D	0.999826	B	0.06786	0.001	B	0.10450	0.005	T	0.03969	-1.0988	10	0.33940	T	0.23	-12.0161	15.4512	0.75274	0.0:0.8618:0.1382:0.0	.	61	P48147	PPCE_HUMAN	S	61	ENSP00000358106:G61S	ENSP00000358106:G61S	G	-	1	0	PREP	105932027	1.000000	0.71417	0.278000	0.24718	0.992000	0.81027	4.509000	0.60448	2.700000	0.92200	0.650000	0.86243	GGT	PREP	-	pfam_Pept_S9A_N	ENSG00000085377		0.378	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	-	0	77	0	C			105825334	-1	tier1	-	no_errors	ENST00000369110	ensembl	human	known	74_37	missense	11.36	78	10	SNP	1.000	T	T	105825334	C	T	105825334	3	4	2	1	0	0	0	0	1	0	0	0	12516	681	24	3	2003	3	PREP	6	105825334	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	31328257	105825334	65289733	82	503											
IQCE	23288	genome.wustl.edu	37	chr7	2623316	2623316	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaacctggaagagatgcgGatcgccatggagacatacta	14	6	11	10	2	0	2	0	0	0	2	1	6	0	4	3	3	3	0	3	3	4	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:2623316G>T	ENST00000402050.2	+	10	931	c.747G>T	c.(745-747)cgG>cgT	p.R249R	IQCE_ENST00000497572.1_3'UTR|IQCE_ENST00000404984.1_Silent_p.R198R|IQCE_ENST00000438376.2_Silent_p.R233R|IQCE_ENST00000325979.7_Silent_p.R184R	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	249						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		AAGAGATGCGGATCGCCATGG	0.637																																																	0													63	67	66					7																	2623316		2064	4201	6265	SO:0001819	synonymous_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.747G>T	7.37:g.2623316G>T			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R249	ENST00000402050.2	37	c.747	CCDS43542.1	7																																																																																			IQCE	-	NULL	ENSG00000106012		0.637	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0	33	0	G	NM_152558		2623316	1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	silent	32.79	41	20	SNP	0.913	T	T	2623316	G	T	2623316	2	4	2	1	0	0	0	0	0	0	0	1	7833	1161	41	3		3	IQCE	7	2623316	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09		2623316	156515347	83	504											
SP4	6671	genome.wustl.edu	37	chr7	21468977	21468977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggactcctggtgaaaatcAagcaactggacaacaacaaa	18	5	9	9	0	1	1	1	1	0	0	2	3	2	3	1	3	4	1	1	3	7	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:21468977A>G	ENST00000222584.3	+	3	412	c.194A>G	c.(193-195)cAa>cGa	p.Q65R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	65					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGTGAAAATCAAGCAACTGGA	0.453																																																	0													57	57	57					7																	21468977		2203	4300	6503	SO:0001583	missense	0				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.194A>G	7.37:g.21468977A>G	ENSP00000222584:p.Gln65Arg		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q65R	ENST00000222584.3	37	c.194	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095345	0.56075	.	.	ENSG00000105866	ENST00000222584;ENST00000446800	T	0.08896	3.04	4.33	4.33	0.51752	.	0.181870	0.49305	D	0.000146	T	0.19327	0.0464	L	0.50333	1.59	0.52501	D	0.999957	D	0.54601	0.967	P	0.62382	0.901	T	0.01305	-1.1390	10	0.31617	T	0.26	.	13.6935	0.62562	1.0:0.0:0.0:0.0	.	65	Q02446	SP4_HUMAN	R	65	ENSP00000222584:Q65R	ENSP00000222584:Q65R	Q	+	2	0	SP4	21435502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.761000	0.91691	1.817000	0.53016	0.460000	0.39030	CAA	SP4	-	NULL	ENSG00000105866		0.453	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	-	0	65	0	A	NM_003112		21468977	1	tier1	-	no_errors	ENST00000222584	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	G	G	21468977	A	G	21468977	3	3	2	1	0	0	0	0	1	0	0	0	15011	130	5	4	204	4	SP4	7	21468977	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	18845661	21468977	137669686	84	505											
AVL9	23080	genome.wustl.edu	37	chr7	32623449	32623449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgcaaagacagctatgtCttcatggctttccactttca	10	13	7	11	0	3	1	2	0	1	1	4	1	4	1	1	1	2	3	1	1	2	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:32623449C>G	ENST00000318709.4	+	16	2098	c.1877C>G	c.(1876-1878)tCt>tGt	p.S626C	AVL9_ENST00000409301.1_Missense_Mutation_p.S608C|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	626					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAGCTATGTCTTCATGGCTT	0.468																																																	0													110	98	102					7																	32623449		2203	4300	6503	SO:0001583	missense	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1877C>G	7.37:g.32623449C>G	ENSP00000315568:p.Ser626Cys		Q92573	Missense_Mutation	SNP	pfam_ABL9/DENND6_dom	p.S626C	ENST00000318709.4	37	c.1877	CCDS34613.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.389825|4.389825	0.82902|0.82902	.|.	.|.	ENSG00000105778|ENSG00000105778	ENST00000446718|ENST00000318709;ENST00000409301;ENST00000329714	T|T;T	0.51325|0.57107	0.71|0.55;0.42	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73257|0.73257	0.3564|0.3564	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.79784	.|0.993	T|T	0.75368|0.75368	-0.3342|-0.3342	7|10	0.02654|0.87932	T|D	1|0	-21.5513|-21.5513	19.1914|19.1914	0.93667|0.93667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|626	.|Q8NBF6	.|AVL9_HUMAN	V|C	500|626;608;568	ENSP00000395134:L500V|ENSP00000315568:S626C;ENSP00000387011:S608C	ENSP00000395134:L500V|ENSP00000315568:S626C	L|S	+|+	1|2	0|0	AVL9|AVL9	32589974|32589974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	5.939000|5.939000	0.70179|0.70179	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	CTT|TCT	AVL9	-	NULL	ENSG00000105778		0.468	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	AVL9	HGNC	protein_coding	OTTHUMT00000328643.1	-	0	34	0	C	NM_015060		32623449	1	tier1	-	no_errors	ENST00000318709	ensembl	human	novel	74_37	missense	26.19	31	11	SNP	1.000	G	G	32623449	C	G	32623449	3	3	2	1	0	0	0	0	1	0	0	0	1229	913	32	5	1939	5	AVL9	7	32623449	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	11154472	32623449	126515214	85	506											
VSTM2A	222008	genome.wustl.edu	37	chr7	54617688	54617688	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcaatgccaacagccaTgcccgcagaatgcaggcctt	13	6	9	13	1	1	1	1	0	0	1	1	1	1	1	4	1	5	2	4	1	4	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:54617688T>A	ENST00000407838.3	+	4	865	c.459T>A	c.(457-459)caT>caA	p.H153Q	VSTM2A_ENST00000402613.3_Missense_Mutation_p.H153Q|VSTM2A_ENST00000302287.3_Missense_Mutation_p.H153Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.H153Q|VSTM2A_ENST00000402026.2_Missense_Mutation_p.H152Q|VSTM2A_ENST00000498834.1_3'UTR	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	153						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			CCAACAGCCATGCCCGCAGAA	0.572																																																	0													58	56	57					7																	54617688		2203	4300	6503	SO:0001583	missense	0			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.459T>A	7.37:g.54617688T>A	ENSP00000384967:p.His153Gln		A4D2E9|B5MC94	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.H152Q	ENST00000407838.3	37	c.456	CCDS5512.2	7	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084119	0.55861	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.44083	0.93;0.95;0.93;0.93;0.94	5.06	-8.27	0.01017	.	0.111137	0.64402	D	0.000008	T	0.49795	0.1578	M	0.64997	1.995	0.20638	N	0.999876	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.83275	0.991;0.996;0.986	T	0.56673	-0.7940	10	0.14656	T	0.56	-28.5341	15.0006	0.71469	0.0:0.7338:0.1055:0.1607	.	153;153;153	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	Q	153;153;153;152;153	ENSP00000303108:H153Q;ENSP00000384967:H153Q;ENSP00000384701:H153Q;ENSP00000385933:H152Q;ENSP00000384103:H153Q	ENSP00000303108:H153Q	H	+	3	2	VSTM2A	54585182	0.194000	0.23325	0.023000	0.16930	0.981000	0.71138	-0.295000	0.08298	-1.827000	0.01204	-0.408000	0.06270	CAT	VSTM2A	-	NULL	ENSG00000170419		0.572	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1	-	0	56	0	T	NM_182546		54617688	1	tier1	-	no_errors	ENST00000402026	ensembl	human	known	74_37	missense	13.41	71	11	SNP	0.180	A	A	54617688	T	A	54617688	3	1	2	1	0	0	0	0	1	0	0	0	17278	1461	51	5	473	5	VSTM2A	7	54617688	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	21994239	54617688	104520975	86	507											
ZNF804B	219578	genome.wustl.edu	37	chr7	88965050	88965050	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaacactgcagaaggAgagaggacccctctaacagc	16	4	10	11	0	2	2	1	0	1	2	2	6	2	4	2	2	4	1	2	2	4	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:88965050A>G	ENST00000333190.4	+	4	3363	c.2754A>G	c.(2752-2754)ggA>ggG	p.G918G		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	918							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCAGAAGGAGAGAGGACCC	0.423										HNSCC(36;0.09)																																							0													99	105	103					7																	88965050		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2754A>G	7.37:g.88965050A>G			B2RTV2|Q7Z714|Q96MN7	Silent	SNP	pfam_Znf_C2H2_jaz	p.G918	ENST00000333190.4	37	c.2754	CCDS5613.1	7																																																																																			ZNF804B	-	NULL	ENSG00000182348		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	54	0	A	NM_181646		88965050	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	silent	33.33	22	11	SNP	0.003	G	G	88965050	A	G	88965050	2	3	2	1	0	0	0	0	0	0	0	1	18219	291	11	4		4	ZNF804B	7	88965050	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	34347362	88965050	70173613	87	508											
COL1A2	1278	genome.wustl.edu	37	chr7	94054949	94054949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaacgatggtcccccaGgtcgcgatggtcaacccgga	8	6	14	13	4	1	0	1	0	0	0	3	4	2	2	3	5	2	0	3	5	2	0	rs72659309		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:94054949G>T	ENST00000297268.6	+	43	3280	c.2809G>T	c.(2809-2811)Ggt>Tgt	p.G937C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	937					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCCCAGGTCGCGATGG	0.478										HNSCC(75;0.22)																																							1	Substitution - Missense(1)	ovary(1)	GRCh37	CM070783	COL1A2	M	rs72659309						105	95	98					7																	94054949		2203	4300	6503	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"Collagens"	2198	protein-coding gene	gene with protein product	"alpha 2(I)-collagen", "alpha-2 collagen type I", "type I procollagen", "collagen I, alpha-2 polypeptide", "collagen of skin, tendon and bone, alpha-2 chain"	120160	"osteogenesis imperfecta type IV"	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2809G>T	7.37:g.94054949G>T	ENSP00000297268:p.Gly937Cys		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	p.G937C	ENST00000297268.6	37	c.2809	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246330	0.80024	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99186	-5.53	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97849	1.0273	10	0.87932	D	0	.	19.5787	0.95455	0.0:0.0:1.0:0.0	.	937	P08123	CO1A2_HUMAN	C	937;938	ENSP00000297268:G937C	ENSP00000297268:G937C	G	+	1	0	COL1A2	93892885	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GGT	COL1A2	-	NULL	ENSG00000164692		0.478	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	-	0	50	0	G	NM_000089		94054949	1	tier1	rs72659309	no_errors	ENST00000297268	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	T	T	94054949	G	T	94054949	3	4	2	1	0	0	0	0	1	0	0	0	3685	1000	35	3	2979	3	COL1A2	7	94054949	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	5089899	94054949	65083714	88	509											
LMOD2	442721	genome.wustl.edu	37	chr7	123296217	123296217	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggacattcagcagagAggcactgatggcctattggg	11	7	14	9	0	1	2	1	1	0	1	1	4	1	3	1	4	1	2	1	4	1	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:123296217A>G	ENST00000458573.2	+	1	357	c.200A>G	c.(199-201)gAg>gGg	p.E67G	LMOD2_ENST00000456238.2_Missense_Mutation_p.E67G	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	67	Glu-rich.					cytoskeleton (GO:0005856)											TTCAGCAGAGAGGCACTGATG	0.532																																																	0													43	48	47					7																	123296217		1870	4094	5964	SO:0001583	missense	0			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.200A>G	7.37:g.123296217A>G	ENSP00000411932:p.Glu67Gly		A4D0W9|A4D0Y2|Q8WVJ8	Missense_Mutation	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.E67G	ENST00000458573.2	37	c.200	CCDS47693.1	7	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867203	0.72065	.	.	ENSG00000170807	ENST00000458573;ENST00000444702;ENST00000332074;ENST00000456238	T;T	0.34667	1.35;1.35	5.67	5.67	0.87782	.	0.000000	0.37178	N	0.002209	T	0.56529	0.1991	M	0.73217	2.22	0.47862	D	0.999533	P	0.48162	0.906	P	0.57720	0.826	T	0.60403	-0.7270	10	0.87932	D	0	-14.3688	15.909	0.79456	1.0:0.0:0.0:0.0	.	67	Q6P5Q4	LMOD2_HUMAN	G	67	ENSP00000411932:E67G;ENSP00000398975:E67G	ENSP00000405123:E67G	E	+	2	0	LMOD2	123083453	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.217000	0.72218	2.155000	0.67459	0.459000	0.35465	GAG	LMOD2	-	pfam_Tropomodulin	ENSG00000170807		0.532	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	-	0	55	0	A			123296217	1	tier1	-	no_errors	ENST00000458573	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G	G	123296217	A	G	123296217	3	3	2	1	0	0	0	0	1	0	0	0	8887	304	11	4	202	4	LMOD2	7	123296217	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	29241268	123296217	35842446	89	510											
SMO	6608	genome.wustl.edu	37	chr7	128850312	128850312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatcaacctgtttgccatGtttggaactggcatcgccat	10	12	9	10	1	1	1	1	0	0	1	2	2	1	2	3	2	3	3	3	2	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:128850312G>T	ENST00000249373.3	+	9	1855	c.1575G>T	c.(1573-1575)atG>atT	p.M525I	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	525					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	TGTTTGCCATGTTTGGAACTG	0.602			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													147	126	133					7																	128850312		2203	4300	6503	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1575G>T	7.37:g.128850312G>T	ENSP00000249373:p.Met525Ile	1568	A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.M525I	ENST00000249373.3	37	c.1575	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835472	0.50951	.	.	ENSG00000128602	ENST00000249373	T	0.81415	-1.49	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.78534	0.4298	L	0.45698	1.435	0.80722	D	1	P;P	0.39535	0.677;0.677	B;B	0.40199	0.322;0.322	T	0.77027	-0.2740	10	0.36615	T	0.2	.	18.8931	0.92413	0.0:0.0:1.0:0.0	.	525;525	A4D1K5;Q99835	.;SMO_HUMAN	I	525	ENSP00000249373:M525I	ENSP00000249373:M525I	M	+	3	0	SMO	128637548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.547000	0.82146	2.723000	0.93209	0.511000	0.50034	ATG	SMO	-	pfam_Frizzled,prints_Frizzled	ENSG00000128602		0.602	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	-	0	50	0	G	NM_005631		128850312	1	tier1	-	no_errors	ENST00000249373	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T	T	128850312	G	T	128850312	3	4	2	1	0	0	0	0	1	0	0	0	14845	1377	48	3	1609	3	SMO	7	128850312	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	5554095	128850312	30288351	90	511											
NUP205	23165	genome.wustl.edu	37	chr7	135279313	135279313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagtgaaaatgctcgcttgGcactctgtgaacaccctcag	11	9	10	11	1	2	3	1	2	1	1	3	3	2	3	1	1	2	3	1	1	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:135279313G>A	ENST00000285968.6	+	13	1875	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	617					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGCTCGCTTGGCACTCTGTGA	0.413																																																	0													98	99	99					7																	135279313		2203	4300	6503	SO:0001583	missense	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.1849G>A	7.37:g.135279313G>A	ENSP00000285968:p.Ala617Thr		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_Nup186/Nup192/Nup205	p.A617T	ENST00000285968.6	37	c.1849	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509262	0.64522	.	.	ENSG00000155561	ENST00000285968	T	0.34072	1.38	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	L	0.56769	1.78	0.80722	D	1	P	0.43788	0.817	P	0.47744	0.556	T	0.19160	-1.0314	10	0.22109	T	0.4	-0.0567	14.2415	0.65959	0.0722:0.0:0.9278:0.0	.	617	Q92621	NU205_HUMAN	T	617	ENSP00000285968:A617T	ENSP00000285968:A617T	A	+	1	0	NUP205	134929853	1.000000	0.71417	0.753000	0.31225	0.526000	0.34562	6.584000	0.74057	1.240000	0.43803	-0.137000	0.14449	GCA	NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.413	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	-	0	47	0	G			135279313	1	tier1	-	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	135279313	G	A	135279313	3	1	2	1	0	0	0	0	1	0	0	0	10798	1203	42	3	1899	3	NUP205	7	135279313	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	6429001	135279313	23859350	91	512											
SSPO	23145	genome.wustl.edu	37	chr7	149516491	149516491	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcccgcagctgcggagtggGccagcagcgccgcctgcggg	4	4	17	16	5	0	0	0	0	0	0	1	1	1	1	4	3	5	3	4	3	0	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:149516491G>A	ENST00000378016.2	+	0	11894							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCGGAGTGGGCCAGCAGCGC	0.701																																																	0													15	20	18					7																	149516491		1962	4133	6095			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516491G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.701	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	18	0	G			149516491	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	57.89	8	11	SNP	1.000	A	A	149516491	G	A	149516491	1	1	2	0	1	0	0	0	0	0	0	0	15236	1203	42	3		3	SSPO	7	149516491	RNA	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	14237178	149516491	9622172	92	513											
SSPO	23145	genome.wustl.edu	37	chr7	149525763	149525763	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcctgtgagagctgcCtctgcctcagtgggaggcct	6	8	16	11	0	2	1	1	1	1	1	2	4	2	3	4	4	3	1	4	4	0	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:149525763C>G	ENST00000378016.2	+	0	15022							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGAGAGCTGCCTCTGCCTCAG	0.602																																																	0													19	25	23					7																	149525763		2084	4213	6297			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149525763C>G			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.602	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	30	0	C			149525763	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	13.79	25	4	SNP	0.990	G	G	149525763	C	G	149525763	1	3	2	0	1	0	0	0	0	0	0	0	15236	681	24	5		5	SSPO	7	149525763	RNA	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	9272	149525763	9612900	93	514											
NCAPG2	54892	genome.wustl.edu	37	chr7	158483335	158483335	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttccttggcaggcaggccTttctcccaccaggtaacaca	8	10	8	15	0	2	0	0	0	2	0	4	0	3	0	4	4	1	3	4	4	1	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr7:158483335T>A	ENST00000409423.1	-	6	634	c.462A>T	c.(460-462)aaA>aaT	p.K154N	NCAPG2_ENST00000449727.2_Missense_Mutation_p.K154N|NCAPG2_ENST00000479022.1_5'Flank|NCAPG2_ENST00000409339.3_Missense_Mutation_p.K154N|NCAPG2_ENST00000275830.10_5'Flank|NCAPG2_ENST00000356309.3_Missense_Mutation_p.K154N	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	154					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CAGGCAGGCCTTTCTCCCACC	0.393																																																	0													129	124	126					7																	158483335		1915	4119	6034	SO:0001583	missense	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.462A>T	7.37:g.158483335T>A	ENSP00000386569:p.Lys154Asn		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.K154N	ENST00000409423.1	37	c.462	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	T	17.30	3.353906	0.61293	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.12	1.62	0.23740	Armadillo-type fold (1);	0.196730	0.52532	D	0.000070	T	0.40743	0.1129	L	0.46157	1.445	0.37075	D	0.898715	D;D	0.57257	0.979;0.964	P;P	0.56700	0.804;0.642	T	0.34179	-0.9839	10	0.41790	T	0.15	-14.1474	8.0013	0.30299	0.0:0.4415:0.0:0.5585	.	154;154	Q86XI2-2;Q86XI2	.;CNDG2_HUMAN	N	154	ENSP00000348657:K154N;ENSP00000386569:K154N;ENSP00000387007:K154N;ENSP00000388326:K154N	ENSP00000348657:K154N	K	-	3	2	NCAPG2	158176096	1.000000	0.71417	0.924000	0.36721	0.979000	0.70002	1.217000	0.32455	0.105000	0.17753	-0.361000	0.07541	AAA	NCAPG2	-	superfamily_ARM-type_fold	ENSG00000146918		0.393	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	-	0	68	0	T	NM_017760		158483335	-1	tier1	-	no_errors	ENST00000409339	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.988	A	A	158483335	T	A	158483335	3	1	2	1	0	0	0	0	1	0	0	0	10247	1606	56	5	3065	5	NCAPG2	7	158483335	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	8957572	158483335	655328	94	515											
TNFRSF10B	8795	genome.wustl.edu	37	chr8	22886020	22886020	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctcctccacagctgggActtccccactgtgctttgta	5	12	8	16	1	1	0	0	0	1	0	4	1	3	1	5	1	2	3	5	1	1	3	rs13265018	byFrequency	TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:22886020A>T	ENST00000276431.4	-	5	856	c.572T>A	c.(571-573)gTc>gAc	p.V191D	TNFRSF10B_ENST00000519910.1_5'Flank|TNFRSF10B_ENST00000347739.3_Intron|TNFRSF10B_ENST00000542226.1_Intron	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	191			V -> A (in dbSNP:rs13265018). {ECO:0000269|PubMed:10072170, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9285725, ECO:0000269|PubMed:9311998, ECO:0000269|PubMed:9373179}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to endoplasmic reticulum stress (GO:0034976)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|TRAIL binding (GO:0045569)			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CACAGCTGGGACTTCCCCACT	0.562																																					GBM(94;1064 1342 1839 21060 42553)												0													153	138	143					8																	22886020		2203	4300	6503	SO:0001583	missense	0			AF012628	CCDS6035.1, CCDS6036.1	8p22-p21	2006-02-22			ENSG00000120889	ENSG00000120889		"Tumor necrosis factor receptor superfamily", "CD molecules"	11905	protein-coding gene	gene with protein product		603612				9285725, 9311998	Standard	NM_003842		Approved	DR5, KILLER, TRICK2A, TRAIL-R2, TRICKB, CD262	uc003xcu.2	O14763	OTTHUMG00000097826	ENST00000276431.4:c.572T>A	8.37:g.22886020A>T	ENSP00000276431:p.Val191Asp		O14720|O15508|O15517|O15531|Q6UXM8|Q7Z360|Q9BVE0	Missense_Mutation	SNP	pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.V191D	ENST00000276431.4	37	c.572	CCDS6035.1	8	.	.	.	.	.	.	.	.	.	.	N	9.260	1.042977	0.19748	.	.	ENSG00000120889	ENST00000276431	D	0.84146	-1.81	3.09	0.0155	0.14104	.	.	.	.	.	T	0.68044	0.2958	N	0.22421	0.69	0.80722	P	0.0	P	0.37500	0.597	B	0.27887	0.084	T	0.60821	-0.7187	8	0.46703	T	0.11	.	4.9773	0.14148	0.3353:0.1591:0.5056:0.0	.	191	O14763	TR10B_HUMAN	D	191	ENSP00000276431:V191D	ENSP00000276431:V191D	V	-	2	0	TNFRSF10B	22941965	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.086000	0.14935	-0.485000	0.06754	-2.318000	0.00253	GTC	TNFRSF10B	-	pirsf_TNFR_10	ENSG00000120889		0.562	TNFRSF10B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF10B	HGNC	protein_coding	OTTHUMT00000215099.2	-	0	34	0	A	NM_147187		22886020	-1	tier1	-	no_errors	ENST00000276431	ensembl	human	known	74_37	missense	69.57	5	32	SNP	0.000	T	T	22886020	A	T	22886020	3	4	2	1	0	0	0	0	1	0	0	0	16328	275	10	5	770	5	TNFRSF10B	8	22886020	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09		22886020	123478002	95	516											
XKR4	114786	genome.wustl.edu	37	chr8	56436615	56436615	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggattgaagaatcagtCattaaaattgacttgttcag	14	12	8	7	1	3	3	3	2	0	1	3	4	3	4	1	1	0	1	1	1	4	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:56436615C>A	ENST00000327381.6	+	3	1882	c.1782C>A	c.(1780-1782)gtC>gtA	p.V594V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	594						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AAGAATCAGTCATTAAAATTG	0.488																																																	0													105	102	103					8																	56436615		2203	4300	6503	SO:0001819	synonymous_variant	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1782C>A	8.37:g.56436615C>A			Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.V594	ENST00000327381.6	37	c.1782	CCDS34893.1	8																																																																																			XKR4	-	NULL	ENSG00000206579		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	59	0	C	NM_052898		56436615	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	silent	48.72	20	19	SNP	1.000	A	A	56436615	C	A	56436615	2	1	2	1	0	0	0	0	0	0	0	1	17482	813	29	3		3	XKR4	8	56436615	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	33550595	56436615	89927407	96	517											
COPS5	10987	genome.wustl.edu	37	chr8	67971526	67971526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtttcagtgccctccaCaggcaaagcaaaactgtcca	11	8	9	13	1	1	0	1	0	0	0	4	0	3	0	3	2	3	3	3	2	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:67971526C>T	ENST00000357849.4	-	2	618	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	COPS5_ENST00000517736.1_Missense_Mutation_p.V36M|AC109335.1_ENST00000578628.1_RNA|COPS5_ENST00000519963.1_5'Flank|PPP1R42_ENST00000517834.1_5'Flank	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	100	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GTGCCCTCCACAGGCAAAGCA	0.443																																																	0													162	128	140					8																	67971526		2203	4300	6503	SO:0001583	missense	0			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.298G>A	8.37:g.67971526C>T	ENSP00000350512:p.Val100Met		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.V100M	ENST00000357849.4	37	c.298	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.146288	0.94603	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	T;T;T	0.62941	-0.01;-0.01;-0.01	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87378	0.6162	H	0.97415	4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91559	0.5263	10	0.87932	D	0	-0.0265	19.4952	0.95069	0.0:1.0:0.0:0.0	.	69;36;100	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	M	100;36;36	ENSP00000350512:V100M;ENSP00000429774:V36M;ENSP00000428586:V36M	ENSP00000350512:V100M	V	-	1	0	COPS5	68134080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.771000	0.85420	2.675000	0.91044	0.655000	0.94253	GTG	COPS5	-	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	ENSG00000121022		0.443	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS5	HGNC	protein_coding	OTTHUMT00000379245.2	-	0	43	0	C			67971526	-1	tier1	-	no_errors	ENST00000357849	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	67971526	C	T	67971526	3	4	2	1	0	0	0	0	1	0	0	0	3743	478	17	3	734	3	COPS5	8	67971526	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	11534911	67971526	78392496	97	518											
ZFHX4	79776	genome.wustl.edu	37	chr8	77763904	77763904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagtcctgtcccacaaGaaaccaacagcaacacagat	15	5	5	16	0	0	2	0	0	0	2	3	2	3	2	5	0	4	1	5	0	4	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:77763904G>A	ENST00000521891.2	+	10	5195	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1538K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1557K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1538K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTCCCACAAGAAACCAACAG	0.428										HNSCC(33;0.089)																																							0													50	47	48					8																	77763904		1939	4170	6109	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4747G>A	8.37:g.77763904G>A	ENSP00000430497:p.Glu1583Lys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E1583K	ENST00000521891.2	37	c.4747	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849593	0.51270	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.76;0.81;0.78;0.77	4.39	4.39	0.52855	.	0.000000	0.45606	U	0.000344	T	0.41766	0.1173	L	0.52573	1.65	0.80722	D	1	B;B;B	0.29301	0.155;0.241;0.241	B;B;B	0.29942	0.051;0.109;0.109	T	0.30679	-0.9970	10	0.08599	T	0.76	.	17.4993	0.87727	0.0:0.0:1.0:0.0	.	1538;1538;1583	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	1583;1583;1538;1538;1557	ENSP00000430497:E1583K;ENSP00000399605:E1538K;ENSP00000050961:E1538K;ENSP00000430848:E1557K	ENSP00000050961:E1538K	E	+	1	0	ZFHX4	77926459	1.000000	0.71417	0.996000	0.52242	0.827000	0.46813	9.601000	0.98297	2.438000	0.82558	0.555000	0.69702	GAA	ZFHX4	-	NULL	ENSG00000091656		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	23	0	G	NM_024721		77763904	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	68.18	7	15	SNP	1.000	A	A	77763904	G	A	77763904	3	1	2	1	0	0	0	0	1	0	0	0	17683	943	33	3	4781	3	ZFHX4	8	77763904	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	9792378	77763904	68600118	98	519											
PTDSS1	9791	genome.wustl.edu	37	chr8	97316374	97316374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaatcttcttttcagagaGtagctggagtgtaccttttc	9	15	8	9	0	3	1	1	0	2	1	4	3	3	2	2	1	2	3	2	1	3	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:97316374G>C	ENST00000517309.1	+	7	1185	c.859G>C	c.(859-861)Gta>Cta	p.V287L	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V84L|PTDSS1_ENST00000455950.2_Missense_Mutation_p.V141L	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	287					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TTTTCAGAGAGTAGCTGGAGT	0.418																																																	0													193	191	192					8																	97316374		2203	4300	6503	SO:0001583	missense	0			D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.859G>C	8.37:g.97316374G>C	ENSP00000430548:p.Val287Leu		E5RFC5|Q9BUQ5	Missense_Mutation	SNP	pfam_PSS	p.V287L	ENST00000517309.1	37	c.859	CCDS6271.1	8	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471333	0.43942	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.43688	1.0;0.99;0.94	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	N	0.05124	-0.11	0.58432	D	0.999995	B	0.06786	0.001	B	0.11329	0.006	T	0.05699	-1.0869	10	0.36615	T	0.2	-17.9526	18.2631	0.90043	0.0:0.0:1.0:0.0	.	287	P48651	PTSS1_HUMAN	L	287;141;84	ENSP00000430548:V287L;ENSP00000401248:V141L;ENSP00000430928:V84L	ENSP00000401248:V141L	V	+	1	0	PTDSS1	97385550	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.177000	0.65032	2.746000	0.94184	0.655000	0.94253	GTA	PTDSS1	-	pfam_PSS	ENSG00000156471		0.418	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS1	HGNC	protein_coding	OTTHUMT00000379743.2	-	0	38	0	G			97316374	1	tier1	-	no_errors	ENST00000517309	ensembl	human	known	74_37	missense	5.30	125	7	SNP	1.000	C	C	97316374	G	C	97316374	3	2	2	1	0	0	0	0	1	0	0	0	12778	1029	36	5	885	5	PTDSS1	8	97316374	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	19552470	97316374	49047648	99	520											
FBXO43	286151	genome.wustl.edu	37	chr8	101149869	101149869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttgaacaacaatttcaCgccaatttctgcttactttc	11	16	3	11	1	3	1	1	1	2	0	4	1	3	1	1	0	4	1	1	0	6	6	rs376141364	byFrequency	TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:101149869C>T	ENST00000428847.2	-	3	1914	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	533	F-box.				meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AACAATTTCACGCCAATTTCT	0.303													C|||	2	0.000399361	0	0	5008	,	,		18003	0		0	False		,,,				2504	0.002																0								C	HIS/ARG	0,3636		0,0,1818	114	105	108		1598	5.8	1	8		108	1,8141		0,1,4070	no	missense	FBXO43	NM_001029860.3	29	0,1,5888	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	533/709	101149869	1,11777	1818	4071	5889	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1598G>A	8.37:g.101149869C>T	ENSP00000403293:p.Arg533His			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.R533H	ENST00000428847.2	37	c.1598	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701514	0.88924	0.0	1.23E-4	ENSG00000156509	ENST00000428847	T	0.59772	0.24	5.77	5.77	0.91146	.	0.105066	0.64402	D	0.000004	T	0.77824	0.4188	M	0.76002	2.32	0.50313	D	0.999868	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.78513	-0.2175	10	0.87932	D	0	-16.4866	20.3627	0.98863	0.0:1.0:0.0:0.0	.	499;533	C9J908;Q4G163	.;FBX43_HUMAN	H	533	ENSP00000403293:R533H	ENSP00000403293:R533H	R	-	2	0	FBXO43	101219045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.015000	0.49599	2.885000	0.99019	0.655000	0.94253	CGT	FBXO43	-	superfamily_F-box_dom	ENSG00000156509		0.303	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	-	0	84	0	C	XM_209918		101149869	-1	tier1	-	no_errors	ENST00000428847	ensembl	human	known	74_37	missense	15.35	193	35	SNP	1.000	T	T	101149869	C	T	101149869	3	4	2	1	0	0	0	0	1	0	0	0	5774	536	19	1	540	1	FBXO43	8	101149869	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	3833495	101149869	45214153	100	521											
RNF19A	25897	genome.wustl.edu	37	chr8	101276403	101276403	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgccatagacataagctaAcataataggaacaccgatac	18	7	6	10	2	0	1	0	0	0	1	0	3	0	2	2	1	5	1	2	1	8	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:101276403A>C	ENST00000519449.1	-	8	1643	c.1327T>G	c.(1327-1329)Tta>Gta	p.L443V	RNF19A_ENST00000341084.2_Missense_Mutation_p.L443V|RNF19A_ENST00000523255.1_Intron	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	443					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ACATAAGCTAACATAATAGGA	0.363																																																	0													74	70	71					8																	101276403		2203	4300	6503	SO:0001583	missense	0			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1327T>G	8.37:g.101276403A>C	ENSP00000428968:p.Leu443Val		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.L443V	ENST00000519449.1	37	c.1327	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740597	0.69304	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.88431	-2.38;-2.38	5.5	3.05	0.35203	.	0.137971	0.49916	D	0.000133	D	0.93249	0.7849	M	0.80616	2.505	0.58432	D	0.999997	D	0.69078	0.997	D	0.78314	0.991	D	0.91942	0.5564	10	0.66056	D	0.02	.	9.3	0.37840	0.7846:0.0:0.2154:0.0	.	443	Q9NV58	RN19A_HUMAN	V	443	ENSP00000428968:L443V;ENSP00000342667:L443V	ENSP00000342667:L443V	L	-	1	2	RNF19A	101345579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.688000	0.37690	0.434000	0.26340	0.460000	0.39030	TTA	RNF19A	-	NULL	ENSG00000034677		0.363	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	-	0	50	0	A	NM_015435		101276403	-1	tier1	-	no_errors	ENST00000341084	ensembl	human	known	74_37	missense	7.27	102	8	SNP	1.000	C	C	101276403	A	C	101276403	3	2	2	1	0	0	0	0	1	0	0	0	13515	40	2	4	1205	4	RNF19A	8	101276403	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	126534	101276403	45087619	101	522											
DPYS	1807	genome.wustl.edu	37	chr8	105456530	105456530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttgctcatcacatgcaCaatgtagagaggacagttca	14	9	9	9	0	3	2	3	0	0	2	3	4	3	3	0	1	2	4	0	1	2	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:105456530C>A	ENST00000351513.2	-	4	871	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	247					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATCACATGCACAATGTAGAGA	0.542																																																	0													121	98	105					8																	105456530		2203	4300	6503	SO:0001583	missense	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.739G>T	8.37:g.105456530C>A	ENSP00000276651:p.Val247Leu			Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.V247L	ENST00000351513.2	37	c.739	CCDS6302.1	8	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567260	0.86439	.	.	ENSG00000147647	ENST00000351513	D	0.90004	-2.6	5.89	5.89	0.94794	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.85299	2.745	0.80722	D	1	P	0.35155	0.487	P	0.47102	0.537	D	0.93379	0.6742	10	0.87932	D	0	-27.2866	20.2576	0.98430	0.0:1.0:0.0:0.0	.	247	Q14117	DPYS_HUMAN	L	247	ENSP00000276651:V247L	ENSP00000276651:V247L	V	-	1	0	DPYS	105525706	1.000000	0.71417	0.966000	0.40874	0.605000	0.37080	7.337000	0.79256	2.783000	0.95769	0.655000	0.94253	GTG	DPYS	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.542	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	-	0	47	0	C	NM_001385		105456530	-1	tier1	-	no_errors	ENST00000351513	ensembl	human	known	74_37	missense	9.64	75	8	SNP	1.000	A	A	105456530	C	A	105456530	3	1	2	1	0	0	0	0	1	0	0	0	4760	478	17	3	844	3	DPYS	8	105456530	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	4180127	105456530	40907492	102	523											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110477101	110477101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggtgaataactatgaGgctggaattgagactaagag	14	10	14	3	0	0	5	0	4	0	2	0	7	0	6	0	3	1	1	0	3	5	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:110477101G>C	ENST00000378402.5	+	49	8144	c.8040G>C	c.(8038-8040)gaG>gaC	p.E2680D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2680					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATAACTATGAGGCTGGAATTG	0.433										HNSCC(38;0.096)																																							0													94	94	94					8																	110477101		1860	4120	5980	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8040G>C	8.37:g.110477101G>C	ENSP00000367655:p.Glu2680Asp		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.E2680D	ENST00000378402.5	37	c.8040	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	7.061	0.566345	0.13560	.	.	ENSG00000205038	ENST00000378402	T	0.80566	-1.39	5.78	2.78	0.32641	.	0.123943	0.53938	D	0.000044	T	0.54743	0.1877	N	0.08118	0	0.24350	N	0.994922	B	0.06786	0.001	B	0.08055	0.003	T	0.33497	-0.9866	10	0.12103	T	0.63	.	4.5212	0.11960	0.1835:0.0:0.5378:0.2787	.	2680	Q86WI1	PKHL1_HUMAN	D	2680	ENSP00000367655:E2680D	ENSP00000367655:E2680D	E	+	3	2	PKHD1L1	110546277	0.999000	0.42202	0.999000	0.59377	0.982000	0.71751	0.505000	0.22642	0.807000	0.34208	-0.119000	0.15052	GAG	PKHD1L1	-	smart_PbH1	ENSG00000205038		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	32	0	G	NM_177531		110477101	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	29.11	56	23	SNP	1.000	C	C	110477101	G	C	110477101	3	2	2	1	0	0	0	0	1	0	0	0	12011	991	35	5	8234	5	PKHD1L1	8	110477101	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	5020571	110477101	35886921	103	524											
OC90	729330	genome.wustl.edu	37	chr8	133053334	133053334	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattgacctctgtgctaagTttggcggggtcttggagaca	8	12	13	8	1	2	2	0	1	2	1	2	3	2	2	1	4	1	2	1	4	2	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:133053334T>A	ENST00000443356.2	-	6	500	c.414A>T	c.(412-414)aaA>aaT	p.K138N	OC90_ENST00000262283.5_Missense_Mutation_p.K334N|OC90_ENST00000603859.1_Missense_Mutation_p.K138N|OC90_ENST00000254627.3_Missense_Mutation_p.K138N			Q02509	OC90_HUMAN	otoconin 90	138	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTGTGCTAAGTTTGGCGGGGT	0.582																																																	0													129	128	128					8																	133053334		1989	4163	6152	SO:0001583	missense	0			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.414A>T	8.37:g.133053334T>A	ENSP00000390050:p.Lys138Asn		B4DNG8	Missense_Mutation	SNP	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.K138N	ENST00000443356.2	37	c.414		8	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320886	0.41096	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26660	1.72;1.72;1.72	5.61	1.27	0.21489	Phospholipase A2 (3);	0.497863	0.19903	N	0.103479	T	0.41994	0.1183	M	0.71581	2.175	0.30891	N	0.730344	D;D	0.60575	0.985;0.988	P;D	0.65140	0.888;0.932	T	0.43032	-0.9416	10	0.27082	T	0.32	-28.82	10.279	0.43528	0.0:0.5658:0.0:0.4342	.	138;138	Q02509-2;Q02509	.;OC90_HUMAN	N	138;138;334	ENSP00000254627:K138N;ENSP00000390050:K138N;ENSP00000262283:K334N	ENSP00000254627:K138N	K	-	3	2	RP11-240B13.2;OC90	133122516	1.000000	0.71417	0.754000	0.31244	0.148000	0.21650	0.877000	0.28106	0.334000	0.23590	-0.229000	0.12294	AAA	OC90	-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom	ENSG00000258417		0.582	OC90-201	KNOWN	basic	protein_coding	OC90	Uniprot_gn	protein_coding		-	0	32	0	T	NM_001080399		133053334	-1	tier1	-	no_errors	ENST00000443356	ensembl	human	known	74_37	missense	34.48	38	20	SNP	0.887	A	A	133053334	T	A	133053334	3	1	2	1	0	0	0	0	1	0	0	0	10853	1722	60	5	1055	5	OC90	8	133053334	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	22576233	133053334	13310688	104	525											
PLEC	5339	genome.wustl.edu	37	chr8	144996861	144996863	+	In_Frame_Del	DEL	CTC	CTC	-																															cggtgcagcttctcaccgatCtcctccgcctgcttccggaa																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr8:144996861_144996863delCTC	ENST00000322810.4	-	31	7814_7816	c.7645_7647delGAG	c.(7645-7647)gagdel	p.E2549del	PLEC_ENST00000345136.3_In_Frame_Del_p.E2412del|PLEC_ENST00000357649.2_In_Frame_Del_p.E2416del|PLEC_ENST00000356346.3_In_Frame_Del_p.E2398del|PLEC_ENST00000398774.2_In_Frame_Del_p.E2380del|PLEC_ENST00000436759.2_In_Frame_Del_p.E2439del|PLEC_ENST00000354589.3_In_Frame_Del_p.E2412del|PLEC_ENST00000527096.1_In_Frame_Del_p.E2435del|PLEC_ENST00000354958.2_In_Frame_Del_p.E2390del	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2549	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCACCGATCTCCTCCGCCTGC	0.67																																																	0																																										SO:0001651	inframe_deletion	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7645_7647delGAG	8.37:g.144996864_144996866delCTC	ENSP00000323856:p.Glu2549del		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	In_Frame_Del	DEL	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2549in_frame_del	ENST00000322810.4	37	c.7647_7645	CCDS43772.1	8																																																																																			PLEC	-	NULL	ENSG00000178209		0.67	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0	38	0	CTC	NM_000445		144996863	-1	tier1		no_errors	ENST00000322810	ensembl	human	known	74_37	in_frame_del	50.00	7	7	DEL	1.000:1.000:1.000	-	-	144996863	CTC	-	144996861	7	5	2	1	0	1	0	1	0	0	0	0	12091	912	32	0	6415	0	PLEC	8	144996861	In_Frame_Del	DEL	CTC	TCGA-2H-A9GG-01A-11D-A37C-09	11943527	144996861	1367161	105	526											
IARS	3376	genome.wustl.edu	37	chr9	95004464	95004464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgaataaggactttaTccgatggagaaactggatat	13	14	9	5	1	1	2	0	1	1	1	2	6	2	4	1	3	1	0	1	3	5	6	rs376036840		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:95004464T>C	ENST00000375643.3	-	29	3415	c.3149A>G	c.(3148-3150)gAt>gGt	p.D1050G	IARS_ENST00000375627.1_Missense_Mutation_p.D103G|IARS_ENST00000375629.3_Missense_Mutation_p.D103G|IARS_ENST00000443024.2_Missense_Mutation_p.D1050G|IARS_ENST00000447699.2_Missense_Mutation_p.D940G|IARS_ENST00000474340.1_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1050					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAGGACTTTATCCGATGGAGA	0.388																																																	0													148	146	146					9																	95004464		2203	4300	6503	SO:0001583	missense	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.3149A>G	9.37:g.95004464T>C	ENSP00000364794:p.Asp1050Gly		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.D1050G	ENST00000375643.3	37	c.3149	CCDS6694.1	9	.	.	.	.	.	.	.	.	.	.	T	8.952	0.968416	0.18659	.	.	ENSG00000196305	ENST00000375643;ENST00000375629;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000375627	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.05	4.93	0.64822	.	0.416196	0.31531	N	0.007496	T	0.24122	0.0584	N	0.13168	0.305	0.34625	D	0.718959	B;B;B	0.13594	0.008;0.0;0.0	B;B;B	0.15052	0.012;0.001;0.001	T	0.24512	-1.0158	10	0.29301	T	0.29	-15.9675	8.6557	0.34062	0.0:0.143:0.0:0.857	.	560;1050;895	F5H1M4;P41252;Q6P0M4	.;SYIC_HUMAN;.	G	1050;103;1050;940;1050;103	ENSP00000364794:D1050G;ENSP00000364780:D103G;ENSP00000406448:D1050G;ENSP00000415020:D940G;ENSP00000364778:D103G	ENSP00000364778:D103G	D	-	2	0	IARS	94044285	1.000000	0.71417	0.960000	0.40013	0.109000	0.19521	1.668000	0.37481	2.311000	0.77944	0.528000	0.53228	GAT	IARS	-	NULL	ENSG00000196305		0.388	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	-	0	60	0	T	NM_002161		95004464	-1	tier1	-	no_errors	ENST00000375643	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.998	C	C	95004464	T	C	95004464	3	2	2	1	0	0	0	0	1	0	0	0	7500	1435	50	4	663	4	IARS	9	95004464	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09		95004464	46208967	106	527											
IPPK	64768	genome.wustl.edu	37	chr9	95400468	95400468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccactggccaggccgttgGaagggaagaagaacggcttc	10	5	15	11	2	0	2	0	0	0	2	1	4	0	4	3	5	1	2	3	5	4	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:95400468G>T	ENST00000287996.3	-	9	1007	c.731C>A	c.(730-732)tCc>tAc	p.S244Y	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	244					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CAGGCCGTTGGAAGGGAAGAA	0.622																																																	0													63	63	63					9																	95400468		2203	4300	6503	SO:0001583	missense	0			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.731C>A	9.37:g.95400468G>T	ENSP00000287996:p.Ser244Tyr		Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.S244Y	ENST00000287996.3	37	c.731	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213670	0.58452	.	.	ENSG00000127080	ENST00000287996	T	0.32753	1.44	5.24	4.35	0.52113	.	0.235720	0.44483	D	0.000453	T	0.33206	0.0855	L	0.34521	1.04	0.80722	D	1	D	0.61080	0.989	P	0.58077	0.832	T	0.08391	-1.0724	10	0.02654	T	1	-14.8032	14.1794	0.65564	0.0725:0.0:0.9275:0.0	.	244	Q9H8X2	IPPK_HUMAN	Y	244	ENSP00000287996:S244Y	ENSP00000287996:S244Y	S	-	2	0	IPPK	94440289	1.000000	0.71417	0.316000	0.25252	0.342000	0.28953	4.346000	0.59367	1.357000	0.45904	-0.258000	0.10820	TCC	IPPK	-	pfam_Ins_P5_2-kin	ENSG00000127080		0.622	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	-	0	55	0	G	NM_022755		95400468	-1	tier1	-	no_errors	ENST00000287996	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.964	T	T	95400468	G	T	95400468	3	4	2	1	0	0	0	0	1	0	0	0	7828	1174	41	3	764	3	IPPK	9	95400468	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	396004	95400468	45812963	107	528											
OR13C2	392376	genome.wustl.edu	37	chr9	107367644	107367644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaagggaaatggtctttcTttctgaaaggaagctcacta	14	11	10	6	0	4	2	1	1	3	1	4	4	4	4	0	3	1	1	0	3	5	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:107367644T>C	ENST00000542196.1	-	1	307	c.265A>G	c.(265-267)Aga>Gga	p.R89G		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATGGTCTTTCTTTCTGAAAGG	0.522																																																	0													62	63	63					9																	107367644		2203	4297	6500	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.265A>G	9.37:g.107367644T>C	ENSP00000438815:p.Arg89Gly		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R89G	ENST00000542196.1	37	c.265	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	T	5.328	0.245891	0.10077	.	.	ENSG00000257019	ENST00000542196	T	0.01335	5.0	3.39	0.896	0.19253	GPCR, rhodopsin-like superfamily (1);	0.179567	0.26518	U	0.023929	T	0.01353	0.0044	L	0.39633	1.23	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.45056	-0.9287	10	0.62326	D	0.03	.	4.3644	0.11218	0.0:0.122:0.2047:0.6733	.	89	Q8NGS9	O13C2_HUMAN	G	89	ENSP00000438815:R89G	ENSP00000438815:R89G	R	-	1	2	OR13C2	106407465	0.000000	0.05858	0.120000	0.21714	0.363000	0.29612	-0.088000	0.11198	1.409000	0.46915	0.379000	0.24179	AGA	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000257019		0.522	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	-	0	47	0	T	NM_001004481		107367644	-1	tier1	-	no_errors	ENST00000542196	ensembl	human	known	74_37	missense	25.45	41	14	SNP	0.000	C	C	107367644	T	C	107367644	3	2	2	1	0	0	0	0	1	0	0	0	10973	1617	56	4	694	4	OR13C2	9	107367644	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	11967176	107367644	33845787	108	529											
EPB41L4B	54566	genome.wustl.edu	37	chr9	112017826	112017826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccagcctgataaagtcGgatctattggatttgctgtt	9	13	11	8	1	1	1	0	1	1	0	2	4	1	3	2	2	3	2	2	2	3	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:112017826G>A	ENST00000374566.3	-	11	1651	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	EPB41L4B_ENST00000374557.4_Silent_p.S378S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	378					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGATAAAGTCGGATCTATTGG	0.507																																																	0													102	97	99					9																	112017826		1943	4143	6086	SO:0001819	synonymous_variant	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1134C>T	9.37:g.112017826G>A			Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Silent	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.S378	ENST00000374566.3	37	c.1134	CCDS43859.1	9																																																																																			EPB41L4B	-	NULL	ENSG00000095203		0.507	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	-	0	38	0	G	NM_018424		112017826	-1	tier1	-	no_errors	ENST00000374566	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.000	A	A	112017826	G	A	112017826	2	1	2	1	0	0	0	0	0	0	0	1	5172	1103	39	1		1	EPB41L4B	9	112017826	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	4650182	112017826	29195605	109	530											
WDR31	114987	genome.wustl.edu	37	chr9	116082779	116082779	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgactgtcccataatCtgaaagagattagggcagga	12	7	11	11	1	1	2	0	1	1	1	2	5	2	3	3	2	0	1	3	2	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:116082779C>A	ENST00000374193.4	-	9	885		c.e9-1		WDR31_ENST00000374195.3_Splice_Site|WDR31_ENST00000461942.1_Splice_Site|WDR31_ENST00000341761.4_Splice_Site	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTCCCATAATCTGAAAGAGAT	0.458																																																	0													66	61	63					9																	116082779		2203	4300	6503	SO:0001630	splice_region_variant	0			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.639-1G>T	9.37:g.116082779C>A			Q5W0T9|Q96EG8	Splice_Site	SNP	-	e7-1	ENST00000374193.4	37	c.639-1	CCDS35110.1	9	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669665	0.88348	.	.	ENSG00000148225	ENST00000374193;ENST00000374195;ENST00000341761	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1813	0.93625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR31	115122600	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.843000	0.75384	2.771000	0.95319	0.563000	0.77884	.	WDR31	-	-	ENSG00000148225		0.458	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	-	0	50	0	C	NM_145241	Intron	116082779	-1	tier1	-	no_errors	ENST00000374193	ensembl	human	known	74_37	splice_site	38.24	21	13	SNP	1.000	A	A	116082779	C	A	116082779	5	1	2	1	0	0	0	0	0	0	1	0	17335	927	32	3	477	3	WDR31	9	116082779	Splice_Site	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	4064953	116082779	25130652	110	531											
PTGES2	80142	genome.wustl.edu	37	chr9	130887621	130887621	+	Frame_Shift_Del	DEL	A	A	-																															gttcacctccaccacctggtAgggcagggcatggaagtcga																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:130887621delA	ENST00000338961.6	-	2	1123	c.379delT	c.(379-381)tacfs	p.Y127fs	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_5'UTR|AL590708.2_ENST00000443493.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	127	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						ACCACCTGGTAGGGCAGGGCA	0.607																																																	0													82	70	74					9																	130887621		2203	4300	6503	SO:0001589	frameshift_variant	0			AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"chromosome 9 open reading frame 15"	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.379delT	9.37:g.130887621delA	ENSP00000345341:p.Tyr127fs		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Frame_Shift_Del	DEL	pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.Y127fs	ENST00000338961.6	37	c.379	CCDS6891.1	9																																																																																			PTGES2	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000148334		0.607	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES2	HGNC	protein_coding	OTTHUMT00000054339.1		0	55	0	A			130887621	-1	tier1		no_errors	ENST00000338961	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	130887621	A	-	130887621	7	5	2	1	0	1	0	1	0	0	0	0	12790	420	15	0	778	0	PTGES2	9	130887621	Frame_Shift_Del	DEL	A	TCGA-2H-A9GG-01A-11D-A37C-09	14804842	130887621	10325810	111	532											
LAMC3	10319	genome.wustl.edu	37	chr9	133967161	133967161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcctgcccgagaactgtgCcagctggcagtgagggctgc	7	6	15	13	1	0	2	0	1	0	1	0	3	0	2	3	2	6	3	3	2	1	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:133967161C>T	ENST00000361069.4	+	28	4848	c.4715C>T	c.(4714-4716)gCc>gTc	p.A1572V	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1572	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGAACTGTGCCAGCTGGCAG	0.632																																																	0													37	37	37					9																	133967161		2203	4300	6503	SO:0001583	missense	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4715C>T	9.37:g.133967161C>T	ENSP00000354360:p.Ala1572Val		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.A1572V	ENST00000361069.4	37	c.4715	CCDS6938.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.20|16.20	3.055293|3.055293	0.55325|0.55325	.|.	.|.	ENSG00000050555|ENSG00000050555	ENST00000361069;ENST00000355048|ENST00000320021;ENST00000355452	T|.	0.27104|.	1.69|.	5.23|5.23	4.32|4.32	0.51571|0.51571	.|.	0.286819|.	0.28296|.	N|.	0.015880|.	T|T	0.53722|0.53722	0.1814|0.1814	M|M	0.67953|0.67953	2.075|2.075	0.27248|0.27248	N|N	0.958969|0.958969	D;P|.	0.57257|.	0.979;0.915|.	P;B|.	0.56563|.	0.801;0.321|.	T|T	0.45977|0.45977	-0.9224|-0.9224	10|6	0.44086|0.31617	T|T	0.13|0.26	.|.	11.1752|11.1752	0.48595|0.48595	0.1841:0.8159:0.0:0.0|0.1841:0.8159:0.0:0.0	.|.	253;1572|.	Q9UF61;Q9Y6N6|.	.;LAMC3_HUMAN|.	V|S	1572;1584|510;254	ENSP00000354360:A1572V|.	ENSP00000347156:A1584V|ENSP00000325873:P510S	A|P	+|+	2|1	0|0	LAMC3|LAMC3	132956982|132956982	0.997000|0.997000	0.39634|0.39634	0.989000|0.989000	0.46669|0.46669	0.073000|0.073000	0.16967|0.16967	4.235000|4.235000	0.58666|0.58666	1.188000|1.188000	0.43014|0.43014	-0.182000|-0.182000	0.12963|0.12963	GCC|CCA	LAMC3	-	NULL	ENSG00000050555		0.632	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	-	0	91	0	C	NM_006059		133967161	1	tier1	-	no_errors	ENST00000361069	ensembl	human	known	74_37	missense	16.24	98	19	SNP	1.000	T	T	133967161	C	T	133967161	3	4	2	1	0	0	0	0	1	0	0	0	8644	739	26	3	4825	3	LAMC3	9	133967161	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	3079540	133967161	7246270	112	533											
SETX	23064	genome.wustl.edu	37	chr9	135205006	135205006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttctatagtgttatctGctttgatcaatacactgtct	9	17	5	10	0	4	1	1	1	3	0	4	1	4	1	1	0	2	2	1	0	5	6	rs882709	byFrequency	TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:135205006G>T	ENST00000224140.5	-	10	2161	c.1979C>A	c.(1978-1980)gCa>gAa	p.A660E	SETX_ENST00000393220.1_Missense_Mutation_p.A660E|SETX_ENST00000372169.2_Missense_Mutation_p.A660E	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	660			A -> G (in dbSNP:rs882709).		cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTGTTATCTGCTTTGATCAA	0.378																																																	0													97	93	95					9																	135205006		2203	4299	6502	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1979C>A	9.37:g.135205006G>T	ENSP00000224140:p.Ala660Glu		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.A660E	ENST00000224140.5	37	c.1979	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784900	0.31593	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87029	-2.12;-2.2;-1.82	5.37	2.12	0.27331	.	1.813340	0.03700	U	0.248429	D	0.84683	0.5526	L	0.32530	0.975	0.80722	P	0.0	P;B;P	0.48016	0.904;0.421;0.904	P;B;P	0.48227	0.571;0.157;0.571	T	0.73927	-0.3828	9	0.35671	T	0.21	.	6.9477	0.24528	0.1947:0.1851:0.6202:0.0	.	660;660;660	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	E	660	ENSP00000224140:A660E;ENSP00000361242:A660E;ENSP00000376913:A660E	ENSP00000224140:A660E	A	-	2	0	SETX	134194827	0.001000	0.12720	0.003000	0.11579	0.048000	0.14542	0.949000	0.29109	0.575000	0.29434	0.555000	0.69702	GCA	SETX	-	NULL	ENSG00000107290		0.378	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0	37	0	G	NM_015046		135205006	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.000	T	T	135205006	G	T	135205006	3	4	2	1	0	0	0	0	1	0	0	0	14186	1319	46	3	6122	3	SETX	9	135205006	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	1237845	135205006	6008425	113	534											
TTF1	7270	genome.wustl.edu	37	chr9	135277918	135277918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaacacctgcttcctcGtccacctccaaagcactata	11	10	4	16	1	0	0	0	0	0	0	4	0	3	0	5	0	3	3	5	0	4	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:135277918G>A	ENST00000334270.2	-	2	330	c.291C>T	c.(289-291)gaC>gaT	p.D97D		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	97	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D97D(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTGCTTCCTCGTCCACCTCCA	0.373																																																	1	Substitution - coding silent(1)	endometrium(1)											146	139	142					9																	135277918		2203	4300	6503	SO:0001819	synonymous_variant	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.291C>T	9.37:g.135277918G>A			A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D97	ENST00000334270.2	37	c.291	CCDS6948.1	9																																																																																			TTF1	-	NULL	ENSG00000125482		0.373	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	-	0	43	0	G	NM_007344		135277918	-1	tier1	-	no_errors	ENST00000334270	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.000	A	A	135277918	G	A	135277918	2	1	2	1	0	0	0	0	0	0	0	1	16767	1136	40	1		1	TTF1	9	135277918	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	72912	135277918	5935513	114	535											
SOHLH1	402381	genome.wustl.edu	37	chr9	138589389	138589389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtcccagggtctggcaCacctgcttgaatctgactcg	6	10	10	15	2	2	2	0	2	2	0	5	2	4	2	3	2	1	2	3	2	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr9:138589389C>G	ENST00000298466.5	-	4	490	c.430G>C	c.(430-432)Gtg>Ctg	p.V144L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V144L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	144					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGGTCTGGCACACCTGCTTGA	0.557																																																	0													72	61	65					9																	138589389		2202	4300	6502	SO:0001583	missense	0			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.430G>C	9.37:g.138589389C>G	ENSP00000298466:p.Val144Leu		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V144L	ENST00000298466.5	37	c.430	CCDS35174.1	9	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342852	0.41498	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.32515	1.45;1.48	4.24	-4.12	0.03916	.	1.589900	0.04446	N	0.371756	T	0.19685	0.0473	L	0.36672	1.1	0.09310	N	1	B;B	0.18741	0.03;0.018	B;B	0.20384	0.029;0.009	T	0.22556	-1.0213	10	0.34782	T	0.22	-0.2206	1.577	0.02626	0.153:0.1923:0.1515:0.5031	.	144;144	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	144	ENSP00000298466:V144L;ENSP00000404438:V144L	ENSP00000298466:V144L	V	-	1	0	SOHLH1	137729210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.173000	0.03108	-0.437000	0.07243	-0.291000	0.09656	GTG	SOHLH1	-	NULL	ENSG00000165643		0.557	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	HGNC	protein_coding	OTTHUMT00000055018.2	-	0	47	0	C	NM_001012415		138589389	-1	tier1	-	no_errors	ENST00000425225	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.000	G	G	138589389	C	G	138589389	3	3	2	1	0	0	0	0	1	0	0	0	14968	478	17	5	794	5	SOHLH1	9	138589389	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	3311471	138589389	2624042	115	536											
GTPBP4	23560	genome.wustl.edu	37	chr10	1053056	1053056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacctggctatcccaaccagGagggacgataaggtaagacg	13	5	12	11	2	0	1	0	0	0	1	1	4	1	3	3	4	1	2	3	4	4	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:1053056G>A	ENST00000360803.4	+	10	1183	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000545048.1_Silent_p.R320R|GTPBP4_ENST00000538293.1_Silent_p.R251R	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	367					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCCCAACCAGGAGGGACGATA	0.537																																																	0													92	78	83					10																	1053056		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1101G>A	10.37:g.1053056G>A			B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.R367	ENST00000360803.4	37	c.1101	CCDS31132.1	10																																																																																			GTPBP4	-	NULL	ENSG00000107937		0.537	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	-	0	56	0	G	NM_012341		1053056	1	tier1	-	no_errors	ENST00000360803	ensembl	human	known	74_37	silent	24.66	55	18	SNP	0.999	A	A	1053056	G	A	1053056	2	1	2	1	0	0	0	0	0	0	0	1	6909	1165	41	3		3	GTPBP4	10	1053056	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09		1053056	134481691	116	537											
SEPHS1	22929	genome.wustl.edu	37	chr10	13371703	13371703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtggtttactcacgatatCcagccactggtgcacagcca	10	9	9	13	1	1	0	1	0	0	0	2	1	2	0	3	2	4	2	3	2	2	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:13371703C>G	ENST00000327347.5	-	6	1021	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SEPHS1_ENST00000545675.1_Missense_Mutation_p.D216H|SEPHS1_ENST00000378614.4_Missense_Mutation_p.D216H|SEPHS1_ENST00000537130.1_Missense_Mutation_p.D149H	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	216					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CTCACGATATCCAGCCACTGG	0.502																																																	0													56	40	45					10																	13371703		2203	4298	6501	SO:0001583	missense	0			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.646G>C	10.37:g.13371703C>G	ENSP00000367893:p.Asp216His		B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.D216H	ENST00000327347.5	37	c.646	CCDS7098.1	10	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659614	0.67586	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000537130	T;T;T;T	0.41758	2.24;0.99;2.24;2.24	5.37	5.37	0.77165	AIR synthase-related protein, C-terminal (2);	0.042264	0.85682	D	0.000000	T	0.44350	0.1289	L	0.60845	1.875	0.80722	D	1	B;B;B;B;B;B	0.20887	0.049;0.033;0.02;0.02;0.02;0.005	B;B;B;B;B;B	0.15870	0.014;0.011;0.014;0.014;0.014;0.009	T	0.35325	-0.9793	10	0.52906	T	0.07	-18.3659	19.1025	0.93279	0.0:1.0:0.0:0.0	.	168;216;216;216;216;149	B4DLS1;Q5T5U9;P49903;D6PSQ9;D3DRS9;B4DWK0	.;.;SPS1_HUMAN;.;.;.	H	216;216;216;216;149	ENSP00000367893:D216H;ENSP00000367877:D216H;ENSP00000441119:D216H;ENSP00000442768:D149H	ENSP00000367887:D216H	D	-	1	0	SEPHS1	13411709	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.805000	0.86005	2.507000	0.84556	0.561000	0.74099	GAT	SEPHS1	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD	ENSG00000086475		0.502	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	HGNC	protein_coding	OTTHUMT00000046856.1	-	0	44	0	C	NM_012247		13371703	-1	tier1	-	no_errors	ENST00000327347	ensembl	human	known	74_37	missense	12.77	41	6	SNP	1.000	G	G	13371703	C	G	13371703	3	3	2	1	0	0	0	0	1	0	0	0	14099	855	30	5	548	5	SEPHS1	10	13371703	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	12318647	13371703	122163044	117	538											
PRKG1	5592	genome.wustl.edu	37	chr10	53822320	53822320	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcactcgtgaagactcAccgagtgaagacccagtctt	12	9	9	11	2	3	4	2	2	1	2	4	5	3	4	2	0	0	0	2	0	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:53822320A>G	ENST00000401604.2	+	7	1013	c.819A>G	c.(817-819)tcA>tcG	p.S273S	PRKG1_ENST00000373980.4_Silent_p.S288S|PRKG1_ENST00000373985.1_Silent_p.S261S|PRKG1_ENST00000373975.2_5'UTR			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	273	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTGAAGACTCACCGAGTGAAG	0.398																																																	0													67	66	66					10																	53822320		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.819A>G	10.37:g.53822320A>G			A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.S288	ENST00000401604.2	37	c.864	CCDS44399.1	10																																																																																			PRKG1	-	pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000185532		0.398	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		-	0	66	0	A			53822320	1	tier1	-	no_errors	ENST00000373980	ensembl	human	known	74_37	silent	16.05	68	13	SNP	1.000	G	G	53822320	A	G	53822320	2	3	2	1	0	0	0	0	0	0	0	1	12564	146	6	4		4	PRKG1	10	53822320	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	40450617	53822320	81712427	118	539											
MYST4	23522	genome.wustl.edu	37	chr10	76729794	76729794	+	Frame_Shift_Del	DEL	G	G	-																															acaggataatatgcttttttGtgattcctgtgatagaggat																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:76729794delG	ENST00000287239.4	+	6	1352	c.863delG	c.(862-864)tgtfs	p.C288fs	KAT6B_ENST00000372711.1_Frame_Shift_Del_p.C288fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.C288fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.C288fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.C288fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	288					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ATGCTTTTTTGTGATTCCTGT	0.318																																																	0													63	61	61					10																	76729794		2203	4300	6503	SO:0001589	frameshift_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.863delG	10.37:g.76729794delG	ENSP00000287239:p.Cys288fs		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C288fs	ENST00000287239.4	37	c.863	CCDS7345.1	10																																																																																			KAT6B	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000156650		0.318	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1		0	72	0	G	NM_012330		76729794	1	tier1		no_errors	ENST00000287239	ensembl	human	known	74_37	frame_shift_del	18.75	39	9	DEL	1.000	-	-	76729794	G	-	76729794	7	5	2	1	0	1	0	1	0	0	0	0	10143	1377	48	0	877	0	MYST4	10	76729794	Frame_Shift_Del	DEL	G	TCGA-2H-A9GG-01A-11D-A37C-09	22907474	76729794	58804953	119	540											
SFTPD	6441	genome.wustl.edu	37	chr10	81701225	81701225	+	Frame_Shift_Del	DEL	C	C	-																															cccccttcaatcccgggggtCccctggcacctggacttccc																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:81701225delC	ENST00000372292.3	-	6	636	c.596delG	c.(595-597)ggafs	p.G199fs		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	199	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCCGGGGGTCCCCTGGCACC	0.537																																																	0													88	77	81					10																	81701225		2203	4300	6503	SO:0001589	frameshift_variant	0			L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"Collectins"	10803	protein-coding gene	gene with protein product		178635	"surfactant, pulmonary-associated protein D"	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.596delG	10.37:g.81701225delC	ENSP00000361366:p.Gly199fs		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Frame_Shift_Del	DEL	pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G199fs	ENST00000372292.3	37	c.596	CCDS7362.1	10																																																																																			SFTPD	-	pfam_Collagen	ENSG00000133661		0.537	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPD	HGNC	protein_coding	OTTHUMT00000049011.1		0	50	0	C			81701225	-1	tier1		no_errors	ENST00000372292	ensembl	human	known	74_37	frame_shift_del	7.14	39	3	DEL	0.996	-	-	81701225	C	-	81701225	7	5	2	1	0	1	0	1	0	0	0	0	14238	855	30	0	543	0	SFTPD	10	81701225	Frame_Shift_Del	DEL	C	TCGA-2H-A9GG-01A-11D-A37C-09	4971431	81701225	53833522	120	541											
RPP30	10556	genome.wustl.edu	37	chr10	92638872	92638872	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgttgcagtttttccaaAgacagaaaagctttttcatg	11	16	8	6	0	1	2	1	0	0	2	2	2	2	2	1	0	2	5	1	0	3	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:92638872A>C	ENST00000371703.3	+	5	594	c.323A>C	c.(322-324)aAg>aCg	p.K108T	RPP30_ENST00000413330.1_Missense_Mutation_p.K108T|Y_RNA_ENST00000410373.1_RNA	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	108					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GTTTTTCCAAAGACAGAAAAG	0.338																																																	0													89	93	91					10																	92638872		2203	4299	6502	SO:0001583	missense	0			BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.323A>C	10.37:g.92638872A>C	ENSP00000360768:p.Lys108Thr		B2R799|E9PB02	Missense_Mutation	SNP	pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like	p.K108T	ENST00000371703.3	37	c.323	CCDS7411.1	10	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334865	0.24253	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.38240	1.21;1.18;1.15	5.64	5.64	0.86602	Polymerase/histidinol phosphatase-like (1);	0.049615	0.85682	D	0.000000	T	0.22322	0.0538	N	0.04508	-0.205	0.58432	D	0.999997	B;B;B	0.31519	0.327;0.263;0.139	B;B;B	0.37346	0.191;0.247;0.127	T	0.18713	-1.0328	10	0.22109	T	0.4	-10.8045	14.8407	0.70220	1.0:0.0:0.0:0.0	.	108;108;108	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	T	108;108;108;130;62	ENSP00000360768:K108T;ENSP00000389182:K108T;ENSP00000277882:K130T	ENSP00000277882:K130T	K	+	2	0	RPP30	92628852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.108000	0.71522	2.152000	0.67230	0.528000	0.53228	AAG	RPP30	-	pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like	ENSG00000148688		0.338	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP30	HGNC	protein_coding	OTTHUMT00000049347.1	-	0	98	0	A	NM_006413		92638872	1	tier1	-	no_errors	ENST00000413330	ensembl	human	known	74_37	missense	22.73	51	15	SNP	1.000	C	C	92638872	A	C	92638872	3	2	2	1	0	0	0	0	1	0	0	0	13657	72	3	4	341	4	RPP30	10	92638872	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	10937647	92638872	42895875	121	542											
HECTD2	143279	genome.wustl.edu	37	chr10	93257887	93257887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcccatggattaagtgAactcttatcacatgaaggca	12	11	10	8	0	2	2	1	2	1	0	2	3	2	3	1	3	1	2	1	3	4	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:93257887A>G	ENST00000298068.5	+	16	1797	c.1703A>G	c.(1702-1704)gAa>gGa	p.E568G	HECTD2_ENST00000371667.1_Missense_Mutation_p.E218G|HECTD2_ENST00000536715.1_Missense_Mutation_p.E157G|HECTD2_ENST00000446394.1_Missense_Mutation_p.E572G	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	568	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGATTAAGTGAACTCTTATCA	0.308																																					NSCLC(12;376 469 1699 39910 41417)												0													84	86	85					10																	93257887		2203	4294	6497	SO:0001583	missense	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1703A>G	10.37:g.93257887A>G	ENSP00000298068:p.Glu568Gly		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.E572G	ENST00000298068.5	37	c.1715	CCDS7414.1	10	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509745	0.64522	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.47	5.47	0.80525	HECT (4);	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	M	0.65975	2.015	0.58432	D	0.999997	B;D	0.76494	0.27;0.999	B;D	0.72982	0.179;0.979	T	0.76900	-0.2788	10	0.72032	D	0.01	.	15.225	0.73345	1.0:0.0:0.0:0.0	.	572;568	E7ERR3;Q5U5R9	.;HECD2_HUMAN	G	572;568;157;218	ENSP00000401023:E572G;ENSP00000298068:E568G;ENSP00000439687:E157G;ENSP00000360731:E218G	ENSP00000298068:E568G	E	+	2	0	HECTD2	93247867	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.944000	0.87722	2.080000	0.62538	0.454000	0.30748	GAA	HECTD2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000165338		0.308	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	-	0	43	0	A			93257887	1	tier1	-	no_errors	ENST00000446394	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	G	G	93257887	A	G	93257887	3	3	2	1	0	0	0	0	1	0	0	0	7067	246	9	4	1789	4	HECTD2	10	93257887	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	619015	93257887	42276860	122	543											
CPXM2	119587	genome.wustl.edu	37	chr10	125516830	125516830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacgtagatggacagttCgaagcagtttgtatgaaggt	11	10	13	7	2	0	2	0	1	0	1	1	4	0	3	1	2	1	5	1	2	4	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:125516830C>T	ENST00000241305.3	-	12	1970	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	606					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATGGACAGTTCGAAGCAGTTT	0.493																																																	0																																										SO:0001583	missense	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1816G>A	10.37:g.125516830C>T	ENSP00000241305:p.Glu606Lys		B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.E606K	ENST00000241305.3	37	c.1816	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965252	0.92855	.	.	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.11930	2.73	4.71	3.81	0.43845	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	H	0.97131	3.945	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.67201	-0.5730	10	0.87932	D	0	-14.8374	12.9185	0.58218	0.0:0.9219:0.0:0.0781	.	606	Q8N436	CPXM2_HUMAN	K	102;606;439;581	ENSP00000241305:E606K	ENSP00000241305:E606K	E	-	1	0	CPXM2	125506820	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.515000	0.81761	1.204000	0.43247	-0.142000	0.14014	GAA	CPXM2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000121898		0.493	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	-	0	38	0	C	NM_198148		125516830	-1	tier1	-	no_errors	ENST00000241305	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	125516830	C	T	125516830	3	4	2	1	0	0	0	0	1	0	0	0	3845	893	31	1	466	1	CPXM2	10	125516830	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	32258943	125516830	10017917	123	544											
FAM175B	23172	genome.wustl.edu	37	chr10	126490414	126490414	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatggcggcgtccattTcgggctacaccttcagtgct	6	11	10	14	3	2	0	2	0	0	0	4	0	3	0	3	3	2	2	3	3	1	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:126490414T>G	ENST00000298492.5	+	1	61	c.16T>G	c.(16-18)Tcg>Gcg	p.S6A		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	6	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						GGCGTCCATTTCGGGCTACAC	0.662																																																	0													96	106	103					10																	126490414		1961	4138	6099	SO:0001583	missense	0			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.16T>G	10.37:g.126490414T>G	ENSP00000298492:p.Ser6Ala		B4DKR2|Q96H11	Missense_Mutation	SNP	prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175	p.S6A	ENST00000298492.5	37	c.16	CCDS31308.2	10	.	.	.	.	.	.	.	.	.	.	T	29.1	4.975206	0.92919	.	.	ENSG00000165660	ENST00000298492	T	0.49139	0.79	4.51	4.51	0.55191	.	0.090008	0.46758	D	0.000264	T	0.66790	0.2825	M	0.74647	2.275	0.48975	D	0.999736	D	0.56035	0.974	D	0.70487	0.969	T	0.71170	-0.4671	10	0.72032	D	0.01	-21.4627	13.2226	0.59896	0.0:0.0:0.0:1.0	.	6	Q15018	F175B_HUMAN	A	6	ENSP00000298492:S6A	ENSP00000298492:S6A	S	+	1	0	FAM175B	126480404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.659000	0.74412	2.008000	0.58898	0.460000	0.39030	TCG	FAM175B	-	prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175	ENSG00000165660		0.662	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175B	HGNC	protein_coding	OTTHUMT00000050891.2	-	0	37	0	T	NM_032182		126490414	1	tier1	-	no_errors	ENST00000298492	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	G	G	126490414	T	G	126490414	3	3	2	1	0	0	0	0	1	0	0	0	5517	1783	62	4	18	4	FAM175B	10	126490414	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	973584	126490414	9044333	124	545											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135097440	135097440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttccatcacttcaaacatCatgtagtattgaatattctg	12	15	6	8	0	4	1	3	1	1	0	5	1	5	1	1	1	1	3	1	1	5	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr10:135097440C>G	ENST00000252936.3	-	13	2130	c.2091G>C	c.(2089-2091)atG>atC	p.M697I	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.M290I|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.M725I|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.M567I|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.M697I			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	697					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTTCAAACATCATGTAGTATT	0.478																																																	0													143	130	135					10																	135097440		2203	4300	6503	SO:0001583	missense	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2091G>C	10.37:g.135097440C>G	ENSP00000252936:p.Met697Ile		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	pfam_TUBGCP,superfamily_Ocr	p.M725I	ENST00000252936.3	37	c.2175	CCDS7676.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.098836	0.94197	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.45228	1.405	0.80722	D	1	D;P;D	0.56746	0.959;0.927;0.977	P;P;P	0.61722	0.835;0.842;0.893	T	0.03364	-1.1044	10	0.02654	T	1	-52.143	17.1769	0.86844	0.0:1.0:0.0:0.0	.	725;725;697	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	I	697;567;697;290;725	ENSP00000252936:M697I;ENSP00000395666:M567I;ENSP00000357551:M697I;ENSP00000357550:M290I;ENSP00000446093:M725I	ENSP00000252936:M697I	M	-	3	0	TUBGCP2	134947430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.373000	0.79623	2.468000	0.83385	0.655000	0.94253	ATG	TUBGCP2	-	pfam_TUBGCP	ENSG00000130640		0.478	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0	68	0	C			135097440	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	missense	45.83	26	22	SNP	1.000	G	G	135097440	C	G	135097440	3	3	2	1	0	0	0	0	1	0	0	0	16815	826	29	5	637	5	TUBGCP2	10	135097440	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	8607026	135097440	437307	125	546											
CD81	975	genome.wustl.edu	37	chr11	2418077	2418077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtgctgtggcatccGgaacagctccgtgtactgag	6	10	15	10	2	0	1	0	1	0	0	2	2	2	2	2	3	5	5	2	3	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:2418077G>T	ENST00000263645.5	+	8	948	c.692G>T	c.(691-693)cGg>cTg	p.R231L	CD81_ENST00000381036.3_Missense_Mutation_p.R269L|CD81_ENST00000481687.1_Missense_Mutation_p.R237L|CD81_ENST00000492627.1_Missense_Mutation_p.R160L|CD81_ENST00000526072.1_Missense_Mutation_p.R160L	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	231					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGTGGCATCCGGAACAGCTCC	0.667																																																	0													50	45	47					11																	2418077		2202	4298	6500	SO:0001583	missense	0				CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"CD molecules", "Tetraspanins"	1701	protein-coding gene	gene with protein product		186845	"CD81 antigen (target of antiproliferative antibody 1)"	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.692G>T	11.37:g.2418077G>T	ENSP00000263645:p.Arg231Leu		P18582|Q5U0J6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.R231L	ENST00000263645.5	37	c.692	CCDS7734.1	11	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612786	0.87258	.	.	ENSG00000110651	ENST00000263645;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000526072;ENST00000481687	T;T;T;T;T;T	0.63744	0.38;0.04;0.17;0.1;0.04;-0.06	3.34	3.34	0.38264	.	0.839956	0.09455	U	0.799843	T	0.80481	0.4631	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.78211	-0.2292	10	0.59425	D	0.04	.	12.5687	0.56323	0.0:0.0:1.0:0.0	.	269;231	A6NMH8;P60033	.;CD81_HUMAN	L	231;160;220;269;160;237	ENSP00000263645:R231L;ENSP00000437242:R160L;ENSP00000433767:R220L;ENSP00000370424:R269L;ENSP00000431780:R160L;ENSP00000432033:R237L	ENSP00000263645:R231L	R	+	2	0	CD81	2374653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.668000	0.74457	1.885000	0.54596	0.561000	0.74099	CGG	CD81	-	NULL	ENSG00000110651		0.667	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD81	HGNC	protein_coding	OTTHUMT00000027357.4	-	0	63	0	G	NM_004356		2418077	1	tier1	-	no_errors	ENST00000263645	ensembl	human	known	74_37	missense	55.56	24	30	SNP	1.000	T	T	2418077	G	T	2418077	3	4	2	1	0	0	0	0	1	0	0	0	3046	1116	39	2	722	2	CD81	11	2418077	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09		2418077	132588439	126	547											
CCKBR	887	genome.wustl.edu	37	chr11	6281230	6281230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttccctgtgccgcccGggggcgcctctcctcaacag	3	7	14	17	3	2	0	1	0	1	0	4	0	3	0	5	4	2	1	5	4	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:6281230G>A	ENST00000334619.2	+	1	265	c.72G>A	c.(70-72)ccG>ccA	p.P24P	CCKBR_ENST00000532715.1_Silent_p.P24P|CCKBR_ENST00000525014.1_Silent_p.P24P|CCKBR_ENST00000525462.1_Silent_p.P24P|CCKBR_ENST00000531712.1_Silent_p.P24P	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	24					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGTGCCGCCCGGGGGCGCCTC	0.721																																																	0													10	14	13					11																	6281230		2173	4261	6434	SO:0001819	synonymous_variant	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.72G>A	11.37:g.6281230G>A			A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P24	ENST00000334619.2	37	c.72	CCDS7761.1	11																																																																																			CCKBR	-	prints_Gastrin_rcpt	ENSG00000110148		0.721	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	-	0	41	0	G	NM_176875		6281230	1	tier1	-	no_errors	ENST00000525462	ensembl	human	known	74_37	silent	20.83	36	10	SNP	0.570	A	A	6281230	G	A	6281230	2	1	2	1	0	0	0	0	0	0	0	1	2888	1103	39	1		1	CCKBR	11	6281230	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	3863153	6281230	128725286	127	548											
ACCS	84680	genome.wustl.edu	37	chr11	44097101	44097101	+	Missense_Mutation	SNP	C	C	T																															tgtcctgaatggtggtgcctCgctcttctctgctctggcca																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:44097101C>T	ENST00000263776.8	+	6	949	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ACCS_ENST00000432284.2_Silent_p.L148L|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	172					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGTGGTGCCTCGCTCTTCTCT	0.607																																					Esophageal Squamous(158;148 1889 8077 23160 41213)												0													283	194	224					11																	44097101		2203	4300	6503	SO:0001583	missense	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.515C>T	11.37:g.44097101C>T	ENSP00000263776:p.Ser172Leu		B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.S172L	ENST00000263776.8	37	c.515	CCDS7907.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939667	0.92526	.	.	ENSG00000110455	ENST00000263776	D	0.91124	-2.79	4.82	4.82	0.62117	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.977	D	0.97429	1.0014	10	0.72032	D	0.01	-13.9251	16.0536	0.80779	0.0:1.0:0.0:0.0	.	99;172	B4DYM9;Q96QU6	.;1A1L1_HUMAN	L	172	ENSP00000263776:S172L	ENSP00000263776:S172L	S	+	2	0	ACCS	44053677	1.000000	0.71417	0.989000	0.46669	0.925000	0.55904	5.919000	0.70005	2.384000	0.81235	0.650000	0.86243	TCG	ACCS	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000110455		0.607	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	-	0	45	0	C	NM_032592		44097101	1	tier1	-	no_errors	ENST00000263776	ensembl	human	known	74_37	missense	14.04	48	8	SNP	1.000	T	T	44097101	C	T	44097101	3	4	2	1	0	0	0	0	1	0	0	0	133	893	31	1	533	1	ACCS	11	44097101	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	37815871	44097101	90909415	128	549	2	2									
ACCS	84680	genome.wustl.edu	37	chr11	44097110	44097110	+	Missense_Mutation	SNP	C	C	G																															tggtggtgcctcgctcttctCtgctctggccacggtgctgt																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:44097110C>G	ENST00000263776.8	+	6	958	c.524C>G	c.(523-525)tCt>tGt	p.S175C	ACCS_ENST00000432284.2_Silent_p.L151L|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	175					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCGCTCTTCTCTGCTCTGGCC	0.602																																					Esophageal Squamous(158;148 1889 8077 23160 41213)												0													258	179	206					11																	44097110		2203	4300	6503	SO:0001583	missense	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.524C>G	11.37:g.44097110C>G	ENSP00000263776:p.Ser175Cys		B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.S175C	ENST00000263776.8	37	c.524	CCDS7907.1	11	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666669	0.67814	.	.	ENSG00000110455	ENST00000263776	T	0.23552	1.9	4.82	3.89	0.44902	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	M	0.87827	2.91	0.80722	D	1	D;B	0.89917	1.0;0.413	D;P	0.91635	0.999;0.462	T	0.62238	-0.6896	10	0.56958	D	0.05	-12.1943	13.3172	0.60413	0.0:0.8412:0.1588:0.0	.	102;175	B4DYM9;Q96QU6	.;1A1L1_HUMAN	C	175	ENSP00000263776:S175C	ENSP00000263776:S175C	S	+	2	0	ACCS	44053686	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	4.223000	0.58587	1.131000	0.42111	0.650000	0.86243	TCT	ACCS	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000110455		0.602	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	-	0	44	0	C	NM_032592		44097110	1	tier1	-	no_errors	ENST00000263776	ensembl	human	known	74_37	missense	13.33	52	8	SNP	1.000	G	G	44097110	C	G	44097110	3	3	2	1	0	0	0	0	1	0	0	0	133	913	32	5	542	5	ACCS	11	44097110	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	9	44097110	90909406	129	550	2	2									
MYBPC3	4607	genome.wustl.edu	37	chr11	47372892	47372892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgcactgtcagcgtatGccgtgtgccctctgtggcca	4	11	11	15	3	2	0	1	0	1	0	3	0	3	0	4	1	3	2	4	1	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:47372892G>T	ENST00000545968.1	-	2	244	c.190C>A	c.(190-192)Cat>Aat	p.H64N	MYBPC3_ENST00000399249.2_Missense_Mutation_p.H64N|MYBPC3_ENST00000256993.4_Missense_Mutation_p.H64N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	64					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCAGCGTATGCCGTGTGCCC	0.632																																																	0			GRCh37	CD043683	MYBPC3	D							40	44	43					11																	47372892		2194	4287	6481	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.190C>A	11.37:g.47372892G>T	ENSP00000442795:p.His64Asn		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.H64N	ENST00000545968.1	37	c.190	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124961	0.56613	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.42900	0.96;0.96;0.96	4.27	4.27	0.50696	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66925	0.2839	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.68059	-0.5509	9	0.19590	T	0.45	.	16.8841	0.86071	0.0:0.0:1.0:0.0	.	64	Q14896	MYPC3_HUMAN	N	64	ENSP00000442795:H64N;ENSP00000382193:H64N;ENSP00000256993:H64N	ENSP00000256993:H64N	H	-	1	0	MYBPC3	47329468	1.000000	0.71417	0.937000	0.37676	0.010000	0.07245	7.449000	0.80643	2.218000	0.71995	0.467000	0.42956	CAT	MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000134571		0.632	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	48	0	G			47372892	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	47372892	G	T	47372892	3	4	2	1	0	0	0	0	1	0	0	0	10051	1319	46	3	3759	3	MYBPC3	11	47372892	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	3275782	47372892	87633624	130	551											
PTPRJ	5795	genome.wustl.edu	37	chr11	48157714	48157714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcatagagtccaagcatgGctctaaccacacaagcacgt	14	7	8	12	1	2	1	1	0	1	1	3	1	3	1	2	1	3	3	2	1	4	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:48157714G>A	ENST00000418331.2	+	9	2091	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	580	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCCAAGCATGGCTCTAACCAC	0.522																																																	0													141	123	129					11																	48157714		2201	4298	6499	SO:0001583	missense	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1739G>A	11.37:g.48157714G>A	ENSP00000400010:p.Gly580Asp		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G580D	ENST00000418331.2	37	c.1739	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331109	0.24167	.	.	ENSG00000149177	ENST00000418331	T	0.59772	0.24	5.31	2.22	0.28083	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50701	0.1631	L	0.50333	1.59	0.20563	N	0.999889	P	0.45768	0.866	P	0.46208	0.507	T	0.33292	-0.9874	9	0.28530	T	0.3	.	4.5544	0.12130	0.0875:0.1513:0.6056:0.1556	.	580	Q12913	PTPRJ_HUMAN	D	580	ENSP00000400010:G580D	ENSP00000400010:G580D	G	+	2	0	PTPRJ	48114290	0.000000	0.05858	0.068000	0.19968	0.087000	0.18053	-0.094000	0.11094	0.733000	0.32492	0.650000	0.86243	GGC	PTPRJ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149177		0.522	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	-	0	39	0	G			48157714	1	tier1	-	no_errors	ENST00000418331	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.014	A	A	48157714	G	A	48157714	3	1	2	1	0	0	0	0	1	0	0	0	12849	1203	42	3	1782	3	PTPRJ	11	48157714	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	784822	48157714	86848802	131	552											
CNTF	1270	genome.wustl.edu	37	chr11	58391895	58391895	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggagctttcacagtGgacagtaaggtccatccatg	10	9	12	10	0	1	0	1	0	0	0	3	2	3	2	2	3	2	4	2	3	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:58391895G>A	ENST00000361987.4	+	2	583	c.503G>A	c.(502-504)tGg>tAg	p.W168*	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	168					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|growth (GO:0040007)|muscle organ morphogenesis (GO:0048644)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of photoreceptor cell differentiation (GO:0046533)|neuron development (GO:0048666)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of retinal cell programmed cell death (GO:0046668)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTTTCACAGTGGACAGTAAGG	0.483																																																	0													109	109	109					11																	58391895		2201	4295	6496	SO:0001587	stop_gained	0			BC068030	CCDS31554.1	11q12	2011-07-21			ENSG00000242689	ENSG00000242689			2169	protein-coding gene	gene with protein product		118945				1840538, 1714745	Standard	NM_000614		Approved	HCNTF	uc001nna.4	P26441	OTTHUMG00000137476	ENST00000361987.4:c.503G>A	11.37:g.58391895G>A	ENSP00000355370:p.Trp168*		B2RAB2	Nonsense_Mutation	SNP	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.W168*	ENST00000361987.4	37	c.503	CCDS31554.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361238	0.82353	.	.	ENSG00000242689	ENST00000361987	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.8411	16.2686	0.82603	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	.	W	+	2	0	CNTF	58148471	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.201000	0.72124	2.575000	0.86900	0.650000	0.86243	TGG	CNTF	-	pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	ENSG00000242689		0.483	CNTF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTF	HGNC	protein_coding	OTTHUMT00000268673.1	-	0	28	0	G	NM_000614		58391895	1	tier1	-	no_errors	ENST00000361987	ensembl	human	known	74_37	nonsense	12.77	40	6	SNP	1.000	A	A	58391895	G	A	58391895	4	1	2	1	0	0	0	0	0	1	0	0	3644	1357	47	3	509	3	CNTF	11	58391895	Nonsense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	10234181	58391895	76614621	132	553											
AHNAK	79026	genome.wustl.edu	37	chr11	62293932	62293932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccatctgggccctctcCtttgaagccaggcatgctga	7	10	9	15	0	2	2	0	2	2	0	4	2	3	2	5	2	2	2	5	2	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:62293932C>G	ENST00000378024.4	-	5	8231	c.7957G>C	c.(7957-7959)Gga>Cga	p.G2653R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2653					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCCTCTCCTTTGAAGCCA	0.517																																																	0													182	184	183					11																	62293932		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7957G>C	11.37:g.62293932C>G	ENSP00000367263:p.Gly2653Arg		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G2653R	ENST00000378024.4	37	c.7957	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	c	15.24	2.775780	0.49786	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.08193	3.12	4.31	3.38	0.38709	.	.	.	.	.	T	0.36963	0.0986	M	0.92833	3.35	0.26289	N	0.978156	D	0.89917	1.0	D	0.91635	0.999	T	0.31447	-0.9943	9	0.59425	D	0.04	-7.0E-4	13.0569	0.58986	0.1627:0.8373:0.0:0.0	.	2653	Q09666	AHNK_HUMAN	R	742;2653	ENSP00000367263:G2653R	ENSP00000244934:G742R	G	-	1	0	AHNAK	62050508	.	.	0.966000	0.40874	0.784000	0.44337	.	.	0.787000	0.33731	0.479000	0.44913	GGA	AHNAK	-	NULL	ENSG00000124942		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	174	0	C	NM_024060		62293932	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	19.18	118	28	SNP	0.941	G	G	62293932	C	G	62293932	3	3	2	1	0	0	0	0	1	0	0	0	414	690	24	5	9835	5	AHNAK	11	62293932	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	3902037	62293932	72712584	133	554											
ANO1	55107	genome.wustl.edu	37	chr11	70007297	70007297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgccatcgtcctcggcGtcatcatctacagaatctcc	7	12	7	15	4	4	1	2	0	2	1	8	1	5	1	3	1	2	1	3	1	2	2	rs377208404		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:70007297G>A	ENST00000355303.5	+	17	1914	c.1609G>A	c.(1609-1611)Gtc>Atc	p.V537I	ANO1_ENST00000538023.1_Missense_Mutation_p.V537I|ANO1_ENST00000531349.1_Missense_Mutation_p.V246I|ANO1_ENST00000530676.1_Missense_Mutation_p.V391I|ANO1_ENST00000398543.2_Missense_Mutation_p.V391I|ANO1_ENST00000316296.5_Missense_Mutation_p.V479I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	537					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CGTCCTCGGCGTCATCATCTA	0.627																																																	0								G	ILE/VAL	0,4240		0,0,2120	62	64	63		1609	5.3	1	11		63	1,8409		0,1,4204	no	missense	ANO1	NM_018043.5	29	0,1,6324	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging	537/987	70007297	1,12649	2120	4205	6325	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1609G>A	11.37:g.70007297G>A	ENSP00000347454:p.Val537Ile		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.V537I	ENST00000355303.5	37	c.1609	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274599	0.80580	0.0	1.19E-4	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.73923	0.3649	L	0.48877	1.53	0.58432	D	0.999998	D;D;D	0.76494	0.971;0.999;0.994	P;D;D	0.70016	0.612;0.967;0.954	T	0.71899	-0.4453	9	.	.	.	.	18.9454	0.92620	0.0:0.0:1.0:0.0	.	246;479;537	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	I	537;537;391;295;479;391;246;88	ENSP00000347454:V537I;ENSP00000444689:V537I;ENSP00000381551:V391I;ENSP00000319477:V479I;ENSP00000435797:V391I;ENSP00000432843:V246I;ENSP00000435868:V88I	.	V	+	1	0	ANO1	69684945	1.000000	0.71417	0.982000	0.44146	0.993000	0.82548	7.760000	0.85248	2.460000	0.83146	0.655000	0.94253	GTC	ANO1	-	pfam_Anoctamin	ENSG00000131620		0.627	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	-	0	18	0	G	NM_018043		70007297	1	tier1	-	no_errors	ENST00000355303	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	A	A	70007297	G	A	70007297	3	1	2	1	0	0	0	0	1	0	0	0	695	1145	40	1	1675	1	ANO1	11	70007297	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	7713365	70007297	64999219	134	555											
CNTN5	53942	genome.wustl.edu	37	chr11	99931943	99931943	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttgttccctatcgtaGccccgttccaacaatcacat	9	15	4	13	2	1	0	1	0	0	0	4	0	3	0	4	0	2	3	4	0	5	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:99931943G>T	ENST00000524871.1	+	10	1270		c.e10-1		CNTN5_ENST00000279463.3_Splice_Site|CNTN5_ENST00000418526.2_Splice_Site|CNTN5_ENST00000528682.1_Splice_Site|CNTN5_ENST00000527185.1_Splice_Site	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5						cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCCTATCGTAGCCCCGTTCCA	0.408																																																	0													168	155	159					11																	99931943		1908	4138	6046	SO:0001630	splice_region_variant	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.981-1G>T	11.37:g.99931943G>T			A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Splice_Site	SNP	-	e8-1	ENST00000524871.1	37	c.981-1	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599801	0.66332	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3608	0.90374	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN5	99437153	1.000000	0.71417	0.997000	0.53966	0.564000	0.35744	9.813000	0.99286	2.649000	0.89929	0.585000	0.79938	.	CNTN5	-	-	ENSG00000149972		0.408	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	60	0	G	NM_014361	Intron	99931943	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	splice_site	15.79	32	6	SNP	1.000	T	T	99931943	G	T	99931943	5	4	2	1	0	0	0	0	0	0	1	0	3651	985	34	3	1010	3	CNTN5	11	99931943	Splice_Site	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	29924646	99931943	35074573	135	556											
BTG4	54766	genome.wustl.edu	37	chr11	111365944	111365947	+	Frame_Shift_Del	DEL	GTAA	GTAA	-																															ggatgcttctgcgagccatgGtaagtgtttcccaggaggcc																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:111365944_111365947delGTAA	ENST00000356018.2	-	5	802_805	c.603_606delTTAC	c.(601-606)acttacfs	p.TY201fs		NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	201					cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|neuron differentiation (GO:0030182)					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		GCGAGCCATGGTAAGTGTTTCCCA	0.529																																																	0																																										SO:0001589	frameshift_variant	0			AJ271351	CCDS8346.1	11q23	2008-05-27				ENSG00000137707			13862	protein-coding gene	gene with protein product		605673				10995567	Standard	NM_017589		Approved	PC3B	uc001plj.3	Q9NY30		ENST00000356018.2:c.603_606delTTAC	11.37:g.111365944_111365947delGTAA	ENSP00000348300:p.Thr201fs		Q8NEH7	Frame_Shift_Del	DEL	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.Y202fs	ENST00000356018.2	37	c.606_603	CCDS8346.1	11																																																																																			BTG4	-	NULL	ENSG00000137707		0.529	BTG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG4	HGNC	protein_coding	OTTHUMT00000391177.1		0	47	0	GTAA			111365947	-1	tier1		no_errors	ENST00000356018	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	0.000:0.000:0.000:0.000	-	-	111365947	GTAA	-	111365944	7	5	2	1	0	1	0	1	0	0	0	0	1560	1256	44	0	73	0	BTG4	11	111365944	Frame_Shift_Del	DEL	GTAA	TCGA-2H-A9GG-01A-11D-A37C-09	11434001	111365944	23640572	136	557											
FDXACB1	91893	genome.wustl.edu	37	chr11	111749828	111749828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaggagaaattcccctccCcaaccaacaggaggcgccga	13	3	10	15	3	0	1	0	0	0	1	2	5	2	2	6	3	2	0	6	3	4	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr11:111749828C>A	ENST00000260257.4	-	1	76	c.29G>T	c.(28-30)gGg>gTg	p.G10V	C11orf1_ENST00000530214.1_5'Flank|ALG9_ENST00000524880.1_Missense_Mutation_p.G10V|C11orf1_ENST00000260276.3_5'Flank|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000542429.1_5'Flank|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000529270.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	10					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ATTCCCCTCCCCAACCAACAG	0.642											OREG0010943|OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model																																					0													29	39	36					11																	111749828		1985	4160	6145	SO:0001583	missense	0				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.29G>T	11.37:g.111749828C>A	ENSP00000260257:p.Gly10Val	1437	A0PJW7|B4DUU2	Missense_Mutation	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.G10V	ENST00000260257.4	37	c.29	CCDS44729.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.194740	0.94960	.	.	ENSG00000086848;ENSG00000255561	ENST00000428306;ENST00000260257	T	0.80566	-1.39	6.17	6.17	0.99709	Domain of unknown function DUF2431 (1);	0.047639	0.85682	D	0.000000	D	0.92404	0.7589	H	0.95079	3.62	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.93828	0.7125	10	0.87932	D	0	.	16.2235	0.82274	0.1331:0.8669:0.0:0.0	.	10	Q9BRP7	FDXA1_HUMAN	V	10	ENSP00000260257:G10V	ENSP00000387627:G10V	G	-	2	0	FDXACB1;ALG9	111255038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.276000	0.72601	2.941000	0.99782	0.655000	0.94253	GGG	FDXACB1	-	pfam_DUF2431	ENSG00000255561		0.642	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	-	0	94	0	C	NM_138378		111749828	-1	tier1	-	no_errors	ENST00000260257	ensembl	human	known	74_37	missense	23.29	56	17	SNP	1.000	A	A	111749828	C	A	111749828	3	1	2	1	0	0	0	0	1	0	0	0	5828	623	22	3	1865	3	FDXACB1	11	111749828	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	383884	111749828	23256688	137	558											
PLEKHA9	51054	genome.wustl.edu	37	chr12	45567893	45567893	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaattggtataataggatGtttcatcttgctggacttga	11	16	10	4	0	2	2	1	2	1	0	2	4	2	4	0	3	1	3	0	3	4	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:45567893G>A	ENST00000256692.5	-	0	792					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATAATAGGATGTTTCATCTTG	0.423																																																	0													147	136	140					12																	45567893		2203	4300	6503			0			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567893G>A				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-	ENSG00000134297		0.423	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1	-	0	82	0	G	NR_037144		45567893	-1	tier1	-	no_errors	ENST00000256692	ensembl	human	known	74_37	rna	38.71	38	24	SNP	0.824	A	A	45567893	G	A	45567893	1	1	2	0	1	0	0	0	0	0	0	0	12102	1377	48	3		3	PLEKHA9	12	45567893	RNA	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09		45567893	88284002	138	559											
RACGAP1	29127	genome.wustl.edu	37	chr12	50388107	50388107	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccagagatcctatacagGcctgtctattatcaagatga	13	10	8	10	0	2	3	1	1	1	2	3	4	3	3	3	1	2	0	3	1	5	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:50388107G>T	ENST00000427314.2	-	14	1369	c.1146C>A	c.(1144-1146)ggC>ggA	p.G382G	RACGAP1_ENST00000454520.2_Silent_p.G382G|RACGAP1_ENST00000312377.5_Silent_p.G382G|RACGAP1_ENST00000551016.1_Silent_p.G382G|RACGAP1_ENST00000547905.1_Silent_p.G382G|RACGAP1_ENST00000548961.1_5'Flank|RACGAP1_ENST00000434422.1_Silent_p.G382G|RACGAP1_ENST00000547061.1_5'Flank	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCCTATACAGGCCTGTCTATT	0.403																																																	0													99	104	102					12																	50388107		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1146C>A	12.37:g.50388107G>T				Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.G382	ENST00000427314.2	37	c.1146	CCDS8795.1	12																																																																																			RACGAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000161800		0.403	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	-	0	34	0	G	NM_013277		50388107	-1	tier1	-	no_errors	ENST00000312377	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.805	T	T	50388107	G	T	50388107	2	4	2	1	0	0	0	0	0	0	0	1	13022	1190	42	3		3	RACGAP1	12	50388107	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	4820214	50388107	83463788	139	560											
KRT80	144501	genome.wustl.edu	37	chr12	52585450	52585450	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttctcctggttcttCagctgctgaacagcggggtc	4	13	10	14	1	3	1	1	1	2	0	7	1	5	1	3	3	4	3	3	3	1	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:52585450C>A	ENST00000394815.2	-	1	334	c.237G>T	c.(235-237)ctG>ctT	p.L79L	KRT80_ENST00000313234.5_Silent_p.L79L	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	79	Head.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CCTGGTTCTTCAGCTGCTGAA	0.562																																					GBM(178;2309 2916 15678 35873)												0													70	77	74					12																	52585450		1975	4166	6141	SO:0001819	synonymous_variant	0			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"-", "Intermediate filaments type II, keratins (basic)"	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.237G>T	12.37:g.52585450C>A			Q6P1A5|Q7Z3Q0	Silent	SNP	pfam_IF,prints_Keratin_II,prints_Keratin_I	p.L79	ENST00000394815.2	37	c.237	CCDS8821.2	12																																																																																			KRT80	-	NULL	ENSG00000167767		0.562	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT80	HGNC	protein_coding	OTTHUMT00000316757.1	-	0	54	0	C	NM_182507		52585450	-1	tier1	-	no_errors	ENST00000394815	ensembl	human	known	74_37	silent	15.91	37	7	SNP	1.000	A	A	52585450	C	A	52585450	2	1	2	1	0	0	0	0	0	0	0	1	8521	813	29	3		3	KRT80	12	52585450	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	2197343	52585450	81266445	140	561											
KRT7	3855	genome.wustl.edu	37	chr12	52635270	52635270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggagttgacagagctGcagtcccagatctccgacac	11	7	10	13	1	1	3	0	1	1	2	3	5	2	4	2	1	3	3	2	1	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:52635270G>A	ENST00000331817.5	+	5	891	c.708G>A	c.(706-708)ctG>ctA	p.L236L		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	236	Coil 1B.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	TGACAGAGCTGCAGTCCCAGA	0.582																																																	0													85	73	77					12																	52635270		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"-", "Intermediate filaments type II, keratins (basic)"	6445	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 7", "cytokeratin 7", "sarcolectin", "keratin, 55K type II cytoskeletal"	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.708G>A	12.37:g.52635270G>A			Q92676|Q9BUD8|Q9Y3R7	Silent	SNP	pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II	p.L236	ENST00000331817.5	37	c.708	CCDS8822.1	12																																																																																			KRT7	-	pfam_IF,superfamily_Prefoldin	ENSG00000135480		0.582	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT7	HGNC	protein_coding	OTTHUMT00000404897.1	-	0	73	0	G	NM_005556		52635270	1	tier1	-	no_errors	ENST00000331817	ensembl	human	known	74_37	silent	9.26	49	5	SNP	1.000	A	A	52635270	G	A	52635270	2	1	2	1	0	0	0	0	0	0	0	1	8510	1306	46	3		3	KRT7	12	52635270	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	49820	52635270	81216625	141	562											
CD63	967	genome.wustl.edu	37	chr12	56119600	56119600	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggttatctcttacctcGacaaaagcaattccaagggc	12	10	8	11	1	2	0	1	0	1	0	5	1	3	0	2	2	2	2	2	2	6	3	rs373117647		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:56119600G>T	ENST00000549117.1	-	7	1084	c.648C>A	c.(646-648)gtC>gtA	p.V216V	CD63_ENST00000548898.1_Silent_p.V123V|CD63_ENST00000257857.4_Silent_p.V216V|CD63_ENST00000552692.1_Silent_p.V216V|CD63_ENST00000546939.1_Silent_p.V134V|CD63_ENST00000552067.1_Silent_p.V123V|CD63_ENST00000552754.1_Silent_p.V193V|CD63_ENST00000420846.3_Intron|CD63_ENST00000548160.1_Silent_p.V123V|CD63_ENST00000550776.1_Silent_p.V134V	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	216					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CTCTTACCTCGACAAAAGCAA	0.587																																					Pancreas(123;1459 1747 6717 18841 37380)												0													54	50	51					12																	56119600		2203	4300	6503	SO:0001819	synonymous_variant	0			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.648C>A	12.37:g.56119600G>T			F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V216	ENST00000549117.1	37	c.648	CCDS8890.1	12																																																																																			CD63	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000135404		0.587	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1	-	0	42	0	G			56119600	-1	tier1	-	no_errors	ENST00000257857	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.904	T	T	56119600	G	T	56119600	2	4	2	1	0	0	0	0	0	0	0	1	3036	1045	37	2		2	CD63	12	56119600	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	3484330	56119600	77732295	142	563											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58022903	58022903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgcggatagtgaaagcagCctcatgtccctcggtggaga	10	9	13	9	2	1	2	1	1	0	1	3	4	2	3	2	3	3	1	2	3	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:58022903C>T	ENST00000341156.4	-	7	1323	c.739G>A	c.(739-741)Gct>Act	p.A247T	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A192T|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	247					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGAAAGCAGCCTCATGTCCC	0.537																																																	0													75	68	71					12																	58022903		2203	4300	6503	SO:0001583	missense	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.739G>A	12.37:g.58022903C>T	ENSP00000341562:p.Ala247Thr		B4DE26|Q8N636	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A247T	ENST00000341156.4	37	c.739	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	19.44	3.827746	0.71143	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.21932	1.98;2.04	5.34	4.39	0.52855	.	0.179518	0.48286	D	0.000196	T	0.23532	0.0569	L	0.60067	1.865	0.80722	D	1	P;P	0.40909	0.476;0.732	B;B	0.40199	0.185;0.322	T	0.02625	-1.1132	10	0.59425	D	0.04	.	12.0415	0.53456	0.1724:0.8276:0.0:0.0	.	192;247	B4DE26;Q00973	.;B4GN1_HUMAN	T	247;192	ENSP00000341562:A247T;ENSP00000401601:A192T	ENSP00000341562:A247T	A	-	1	0	B4GALNT1	56309170	0.273000	0.24181	0.097000	0.21041	0.811000	0.45836	2.370000	0.44240	2.522000	0.85027	0.655000	0.94253	GCT	B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.537	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0	48	0	C	NM_001478		58022903	-1	tier1	-	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	38.89	33	21	SNP	0.363	T	T	58022903	C	T	58022903	3	4	2	1	0	0	0	0	1	0	0	0	1267	739	26	3	882	3	B4GALNT1	12	58022903	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	1903303	58022903	75828992	143	564											
MON2	23041	genome.wustl.edu	37	chr12	62931429	62931429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggactttacttaacttggcGcattgccatggggctgttct	7	14	11	9	1	1	0	0	0	1	0	1	1	1	1	1	4	3	3	1	4	2	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:62931429G>A	ENST00000393632.2	+	16	2452	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	MON2_ENST00000552738.1_Silent_p.A664A|MON2_ENST00000552115.1_Silent_p.A687A|MON2_ENST00000393630.3_Silent_p.A687A|MON2_ENST00000546600.1_Silent_p.A687A|MON2_ENST00000393629.2_Silent_p.A687A|MON2_ENST00000280379.6_Silent_p.A687A	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	687					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTAACTTGGCGCATTGCCATG	0.338																																																	0													127	123	124					12																	62931429		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.2061G>A	12.37:g.62931429G>A			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.A687	ENST00000393632.2	37	c.2061	CCDS31849.1	12																																																																																			MON2	-	NULL	ENSG00000061987		0.338	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0	40	0	G	NM_015026		62931429	1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.762	A	A	62931429	G	A	62931429	2	1	2	1	0	0	0	0	0	0	0	1	9738	1074	38	1		1	MON2	12	62931429	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	4908526	62931429	70920466	144	565											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85450311	85450311	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatcaaagataatcagcaGaaaaagatacaaaaagtaga	25	6	6	4	0	2	4	2	0	0	4	2	4	2	4	0	0	2	2	0	0	9	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:85450311G>A	ENST00000393217.2	+	8	1801	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	580										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATAATCAGCAGAAAAAGATAC	0.294																																																	0													31	32	32					12																	85450311		2188	4267	6455	SO:0001819	synonymous_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1740G>A	12.37:g.85450311G>A			Q567P4|Q9BS17|Q9HA36	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.Q580	ENST00000393217.2	37	c.1740	CCDS41816.1	12																																																																																			LRRIQ1	-	NULL	ENSG00000133640		0.294	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	30	0	G	NM_032165		85450311	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.003	A	A	85450311	G	A	85450311	2	1	2	1	0	0	0	0	0	0	0	1	9064	933	33	3		3	LRRIQ1	12	85450311	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	22518882	85450311	48401584	145	566											
ELK3	2004	genome.wustl.edu	37	chr12	96641176	96641176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtccgtctcggccaagatCtcctctttaatgttgccaaa	8	13	7	13	3	3	1	0	0	3	1	7	1	4	1	4	1	1	1	4	1	3	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:96641176C>G	ENST00000228741.3	+	3	992	c.666C>G	c.(664-666)atC>atG	p.I222M	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	222					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CGGCCAAGATCTCCTCTTTAA	0.617																																																	0													67	75	72					12																	96641176		2203	4300	6503	SO:0001583	missense	0			BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.666C>G	12.37:g.96641176C>G	ENSP00000228741:p.Ile222Met		B2R6S6|Q6FG57|Q6GU29|Q9UD17	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.I222M	ENST00000228741.3	37	c.666	CCDS9060.1	12	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309595	0.23821	.	.	ENSG00000111145	ENST00000228741	T	0.30714	1.52	5.55	3.57	0.40892	.	0.475010	0.24204	N	0.040593	T	0.22003	0.0530	L	0.44542	1.39	0.80722	D	1	B	0.29716	0.255	B	0.29440	0.102	T	0.06232	-1.0838	10	0.34782	T	0.22	.	5.0445	0.14477	0.2563:0.5545:0.1134:0.0758	.	222	P41970	ELK3_HUMAN	M	222	ENSP00000228741:I222M	ENSP00000228741:I222M	I	+	3	3	ELK3	95165307	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.038000	0.30254	1.306000	0.44926	0.462000	0.41574	ATC	ELK3	-	NULL	ENSG00000111145		0.617	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK3	HGNC	protein_coding	OTTHUMT00000408694.1	-	0	64	0	C	NM_005230		96641176	1	tier1	-	no_errors	ENST00000228741	ensembl	human	known	74_37	missense	52.11	34	37	SNP	1.000	G	G	96641176	C	G	96641176	3	3	2	1	0	0	0	0	1	0	0	0	5076	903	32	5	672	5	ELK3	12	96641176	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	11190865	96641176	37210719	146	567											
C12orf51	283450	genome.wustl.edu	37	chr12	112717041	112717041	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcacttactttttaaagAtgacaaaccacttgttccac	14	14	3	10	0	1	2	1	1	0	1	2	2	2	2	2	0	2	1	2	0	5	7			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:112717041A>G	ENST00000430131.2	-	9	1641	c.496T>C	c.(496-498)Tct>Cct	p.S166P	HECTD4_ENST00000550722.1_Missense_Mutation_p.S416P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	166					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.S416P(1)|p.S166P(1)									CTTTTTAAAGATGACAAACCA	0.398																																																	2	Substitution - Missense(2)	prostate(2)											72	71	71					12																	112717041		1846	4085	5931	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.496T>C	12.37:g.112717041A>G	ENSP00000404379:p.Ser166Pro		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S416P	ENST00000430131.2	37	c.1246		12	.	.	.	.	.	.	.	.	.	.	A	19.50	3.840147	0.71488	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52295	0.73;0.72;0.67	5.54	5.54	0.83059	.	.	.	.	.	T	0.51805	0.1696	N	0.14661	0.345	0.48632	D	0.999686	D	0.54601	0.967	D	0.65874	0.939	T	0.60094	-0.7330	9	0.87932	D	0	.	15.6803	0.77364	1.0:0.0:0.0:0.0	.	166	Q9Y4D8	K0614_HUMAN	P	416;166;416	ENSP00000366783:S416P;ENSP00000404379:S166P;ENSP00000449784:S416P	ENSP00000366783:S416P	S	-	1	0	C12orf51	111201424	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.879000	0.92398	2.115000	0.64714	0.482000	0.46254	TCT	HECTD4	-	NULL	ENSG00000173064		0.398	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	57	0	A	NM_173813		112717041	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	14.29	54	9	SNP	1.000	G	G	112717041	A	G	112717041	3	3	2	1	0	0	0	0	1	0	0	0	1701	333	12	4	11762	4	C12orf51	12	112717041	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	16075865	112717041	21134854	147	568											
TESC	54997	genome.wustl.edu	37	chr12	117484456	117484456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtgagggtttcccgacaGcagctcctcgaccacctgcc	7	8	11	15	2	0	1	0	1	0	0	3	4	2	1	5	1	3	3	5	1	0	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:117484456G>T	ENST00000335209.7	-	6	613	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	TESC_ENST00000541210.1_Missense_Mutation_p.L116M|TESC_ENST00000392545.4_Missense_Mutation_p.L196M|TESC_ENST00000535198.1_5'UTR			Q96BS2	CHP3_HUMAN	tescalcin	143	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TTTCCCGACAGCAGCTCCTCG	0.677																																																	0													23	21	22					12																	117484456		2149	4172	6321	SO:0001583	missense	0			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.427C>A	12.37:g.117484456G>T	ENSP00000334785:p.Leu143Met		F5H1Y5|Q9NWT9	Nonsense_Mutation	SNP	pfscan_EF_hand_dom	p.C144*	ENST00000335209.7	37	c.432	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538052	0.65085	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210;ENST00000549210	T;T;T	0.63580	0.35;0.35;-0.05	5.0	4.12	0.48240	EF-hand-like domain (1);	0.096735	0.41605	U	0.000841	T	0.50343	0.1610	L	0.33093	0.98	0.51012	D	0.999906	P	0.41673	0.759	B	0.43225	0.412	T	0.51841	-0.8654	10	0.56958	D	0.05	-41.1465	5.8264	0.18556	0.1629:0.0:0.6808:0.1564	.	143	Q96BS2	TESC_HUMAN	M	143;196;116;26	ENSP00000334785:L143M;ENSP00000376328:L196M;ENSP00000445689:L116M	ENSP00000334785:L143M	L	-	1	2	TESC	115968839	1.000000	0.71417	0.952000	0.39060	0.013000	0.08279	4.907000	0.63300	1.338000	0.45544	-0.136000	0.14681	CTG	TESC	-	NULL	ENSG00000088992		0.677	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	-	0	60	0	G	NM_017899		117484456	-1	tier1	-	no_errors	ENST00000470612	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.997	T	T	117484456	G	T	117484456	3	4	2	1	0	0	0	0	1	0	0	0	15813	962	34	3	229	3	TESC	12	117484456	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	4767415	117484456	16367439	148	569											
TMEM132D	121256	genome.wustl.edu	37	chr12	129822245	129822245	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttggacactcccaagtcAgacgtgatctctccggggta	9	10	10	12	2	3	2	1	1	2	1	6	3	5	3	2	3	0	1	2	3	2	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr12:129822245A>T	ENST00000422113.2	-	4	1559	c.1233T>A	c.(1231-1233)tcT>tcA	p.S411S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	411					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTCCCAAGTCAGACGTGATCT	0.572																																																	0													164	142	150					12																	129822245		2203	4300	6503	SO:0001819	synonymous_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1233T>A	12.37:g.129822245A>T			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.S411	ENST00000422113.2	37	c.1233	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0	28	0	A	NM_133448		129822245	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	silent	45.16	17	14	SNP	0.002	T	T	129822245	A	T	129822245	2	4	2	1	0	0	0	0	0	0	0	1	16094	175	7	5		5	TMEM132D	12	129822245	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	12337789	129822245	4029650	149	570											
POSTN	10631	genome.wustl.edu	37	chr13	38154738	38154738	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacttttcatggagggattTctctgctggcttgatgatct	7	17	10	7	0	3	2	1	2	2	0	4	4	3	4	0	3	2	2	0	3	1	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr13:38154738T>A	ENST00000379747.4	-	11	1606	c.1489A>T	c.(1489-1491)Aaa>Taa	p.K497*	POSTN_ENST00000379742.4_Nonsense_Mutation_p.K497*|POSTN_ENST00000379743.4_Nonsense_Mutation_p.K497*|POSTN_ENST00000541179.1_Nonsense_Mutation_p.K497*|POSTN_ENST00000379749.4_Nonsense_Mutation_p.K497*|POSTN_ENST00000541481.1_Nonsense_Mutation_p.K497*	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	497	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGAGGGATTTCTCTGCTGGC	0.428																																																	0													312	294	300					13																	38154738		2203	4300	6503	SO:0001587	stop_gained	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1489A>T	13.37:g.38154738T>A	ENSP00000369071:p.Lys497*		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Nonsense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.K497*	ENST00000379747.4	37	c.1489	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	39	7.876223	0.98539	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.02	5.02	0.67125	.	0.101860	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9629	15.0317	0.71713	0.0:0.0:0.0:1.0	.	.	.	.	X	497	.	ENSP00000369066:K497X	K	-	1	0	POSTN	37052738	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.688000	0.68227	2.000000	0.58554	0.455000	0.32223	AAA	POSTN	-	superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.428	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	95	0	T	NM_006475		38154738	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	nonsense	20.30	105	27	SNP	1.000	A	A	38154738	T	A	38154738	4	1	2	1	0	0	0	0	0	1	0	0	12298	1792	62	5	1073	5	POSTN	13	38154738	Nonsense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09		38154738	77015140	150	571											
DNAJC15	29103	genome.wustl.edu	37	chr13	43643083	43643083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtcgctacgcatttcggAtctggaaacctctagaacaa	12	10	9	10	3	2	1	0	0	2	1	4	3	2	3	1	3	3	2	1	3	6	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr13:43643083A>T	ENST00000379221.2	+	3	602	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	60					cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CGCATTTCGGATCTGGAAACC	0.333																																																	0													102	97	99					13																	43643083		2203	4300	6503	SO:0001583	missense	0			AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"Heat shock proteins / DNAJ (HSP40)"	20325	protein-coding gene	gene with protein product		615339	"DnaJ (Hsp40) homolog, subfamily D, member 1"	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.178A>T	13.37:g.43643083A>T	ENSP00000368523:p.Ile60Phe		B2R4L0|Q5T219|Q6X963	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	p.I60F	ENST00000379221.2	37	c.178	CCDS9388.1	13	.	.	.	.	.	.	.	.	.	.	A	6.697	0.497193	0.12762	.	.	ENSG00000120675	ENST00000379221	T	0.44881	0.91	5.05	1.27	0.21489	.	0.265778	0.36268	N	0.002683	T	0.24005	0.0581	L	0.42245	1.32	0.38679	D	0.952481	B	0.09022	0.002	B	0.06405	0.002	T	0.10730	-1.0617	10	0.10111	T	0.7	-11.2009	1.4314	0.02334	0.3549:0.2849:0.2407:0.1195	.	60	Q9Y5T4	DJC15_HUMAN	F	60	ENSP00000368523:I60F	ENSP00000368523:I60F	I	+	1	0	DNAJC15	42541083	0.963000	0.33076	0.999000	0.59377	0.982000	0.71751	0.707000	0.25704	0.076000	0.16826	0.528000	0.53228	ATC	DNAJC15	-	NULL	ENSG00000120675		0.333	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC15	HGNC	protein_coding	OTTHUMT00000044709.2	-	0	40	0	A	NM_013238		43643083	1	tier1	-	no_errors	ENST00000379221	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.964	T	T	43643083	A	T	43643083	3	4	2	1	0	0	0	0	1	0	0	0	4648	333	12	5	188	5	DNAJC15	13	43643083	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	5488345	43643083	71526795	151	572											
HTR2A	3356	genome.wustl.edu	37	chr13	47466612	47466612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgggattctggatggCgacgtagcggtccagcgaga	8	8	18	7	4	1	1	0	0	1	1	2	6	2	4	1	5	2	1	1	5	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr13:47466612C>T	ENST00000378688.4	-	2	657	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	HTR2A_ENST00000542664.1_Missense_Mutation_p.A176T|HTR2A_ENST00000543956.1_Missense_Mutation_p.A92T			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	176					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A176T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTCTGGATGGCGACGTAGCGG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											247	238	241					13																	47466612		2203	4300	6503	SO:0001583	missense	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.526G>A	13.37:g.47466612C>T	ENSP00000367959:p.Ala176Thr		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.A176T	ENST00000378688.4	37	c.526	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	C	36	5.860701	0.97036	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.53423	0.62;0.62;0.62	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.056380	0.64402	D	0.000001	T	0.80894	0.4711	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.964;0.994	D	0.86003	0.1496	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	92;176	F5GWE8;P28223	.;5HT2A_HUMAN	T	176;92;176	ENSP00000367959:A176T;ENSP00000441861:A92T;ENSP00000437737:A176T	ENSP00000367959:A176T	A	-	1	0	HTR2A	46364613	1.000000	0.71417	0.971000	0.41717	0.959000	0.62525	7.736000	0.84948	2.937000	0.99478	0.650000	0.86243	GCC	HTR2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102468		0.527	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	-	0	50	0	C	NM_000621		47466612	-1	tier1	-	no_errors	ENST00000378688	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T	T	47466612	C	T	47466612	3	4	2	1	0	0	0	0	1	0	0	0	7468	768	27	1	897	1	HTR2A	13	47466612	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	3823529	47466612	67703266	152	573											
GPC5	2262	genome.wustl.edu	37	chr13	92797095	92797095	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaattagttgttacagggtAgatcacccaaacctgacaag	15	9	8	9	0	1	2	1	1	0	1	1	2	1	2	2	1	2	3	2	1	6	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr13:92797095A>T	ENST00000377067.3	+	7	1786	c.1414A>T	c.(1414-1416)Aga>Tga	p.R472*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	472					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTTACAGGGTAGATCACCCAA	0.388																																																	0													140	134	136					13																	92797095		2203	4300	6503	SO:0001587	stop_gained	0			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"Proteoglycans / Cell Surface : Glypicans"	4453	protein-coding gene	gene with protein product	"glypican proteoglycan 5"	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1414A>T	13.37:g.92797095A>T	ENSP00000366267:p.Arg472*		B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	pfam_Glypican	p.R472*	ENST00000377067.3	37	c.1414	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	A	40	8.387584	0.98789	.	.	ENSG00000179399	ENST00000377067	.	.	.	5.67	-0.0369	0.13886	.	0.795939	0.11244	N	0.584369	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.3047	8.1072	0.30892	0.4588:0.41:0.0:0.1312	.	.	.	.	X	472	.	ENSP00000366267:R472X	R	+	1	2	GPC5	91595096	0.986000	0.35501	0.214000	0.23707	0.770000	0.43624	2.993000	0.49425	-0.198000	0.10333	-0.472000	0.04984	AGA	GPC5	-	pfam_Glypican	ENSG00000179399		0.388	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	HGNC	protein_coding	OTTHUMT00000045454.1	-	0	79	0	A	NM_004466		92797095	1	tier1	-	no_errors	ENST00000377067	ensembl	human	known	74_37	nonsense	43.33	51	39	SNP	0.440	T	T	92797095	A	T	92797095	4	4	2	1	0	0	0	0	0	1	0	0	6627	412	15	5	1440	5	GPC5	13	92797095	Nonsense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	45330483	92797095	22372783	153	574											
MYH6	4624	genome.wustl.edu	37	chr14	23869922	23869922	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcccaactcacgtcgAagatctcgaagccagcgatg	11	6	12	12	4	2	1	1	0	1	1	5	4	3	1	2	2	3	0	2	2	3	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr14:23869922A>T	ENST00000356287.3	-	12	1435	c.1406T>A	c.(1405-1407)tTc>tAc	p.F469Y	MYH6_ENST00000405093.3_Missense_Mutation_p.F469Y			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	469	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTCACGTCGAAGATCTCGAA	0.557																																																	0													85	75	78					14																	23869922		2203	4300	6503	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1406T>A	14.37:g.23869922A>T	ENSP00000348634:p.Phe469Tyr		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F469Y	ENST00000356287.3	37	c.1406	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	19.39	3.818241	0.71028	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90324	-2.65;-2.65	4.03	4.03	0.46877	Myosin head, motor domain (3);	.	.	.	.	D	0.96803	0.8956	H	0.98314	4.2	0.58432	D	0.999992	P;P	0.38729	0.644;0.644	P;P	0.56278	0.795;0.795	D	0.97607	1.0127	9	0.87932	D	0	.	12.5034	0.55968	1.0:0.0:0.0:0.0	.	469;469	D9YZU2;P13533	.;MYH6_HUMAN	Y	469	ENSP00000386041:F469Y;ENSP00000348634:F469Y	ENSP00000348634:F469Y	F	-	2	0	MYH6	22939762	1.000000	0.71417	0.871000	0.34182	0.335000	0.28730	5.571000	0.67404	1.610000	0.50200	0.473000	0.43528	TTC	MYH6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000197616		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	43	0	A			23869922	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	T	T	23869922	A	T	23869922	3	4	2	1	0	0	0	0	1	0	0	0	10076	246	9	5	4521	5	MYH6	14	23869922	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09		23869922	83479618	154	575											
DHRS4L1	728635	genome.wustl.edu	37	chr14	24507011	24507011	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacgtggtagtcagccGccggaagcagcagaatgtgg	9	5	16	11	3	1	1	1	0	0	1	1	2	1	2	3	4	3	3	3	4	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr14:24507011G>T	ENST00000558293.1	+	0	176					NR_102693.1																						GTAGTCAGCCGCCGGAAGCAG	0.642																																																	0													34	35	34					14																	24507011		2203	4300	6503			0																															14.37:g.24507011G>T				RNA	SNP	-	NULL	ENST00000558293.1	37	NULL		14	.	.	.	.	.	.	.	.	.	.	-	7.686	0.689971	0.15039	.	.	ENSG00000225766	ENST00000397065	.	.	.	3.32	3.32	0.38043	NAD(P)-binding domain (1);	.	.	.	.	T	0.35566	0.0936	N	0.11870	0.19	.	.	.	B	0.12630	0.006	B	0.13407	0.009	T	0.49513	-0.8932	7	0.72032	D	0.01	.	12.5473	0.56208	0.0:0.0:1.0:0.0	.	63	P0CG22	DR4L1_HUMAN	L	63	.	ENSP00000380255:R63L	R	+	2	0	AL136295.1	23576851	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	7.937000	0.87672	1.864000	0.54056	0.400000	0.26472	CGC	RP11-468E2.9	-	-	ENSG00000225766		0.642	RP11-468E2.9-005	KNOWN	basic	processed_transcript	DHRS4L1	Clone_based_vega_gene	pseudogene	OTTHUMT00000417272.1	-	0	62	0	G			24507011	1	tier1	-	no_errors	ENST00000558682	ensembl	human	known	74_37	rna	29.73	26	11	SNP	1.000	T	T	24507011	G	T	24507011	1	4	2	0	1	0	0	0	0	0	0	0	4507	1087	38	2		2	DHRS4L1	14	24507011	RNA	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	637089	24507011	82842529	155	576											
AKAP6	9472	genome.wustl.edu	37	chr14	33291546	33291546	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattttgataaaaaatcatgCaaatctaaacatcagactac	19	12	3	7	0	3	2	2	1	1	1	3	2	3	2	0	0	3	1	0	0	8	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr14:33291546C>A	ENST00000280979.4	+	13	4697	c.4527C>A	c.(4525-4527)tgC>tgA	p.C1509*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1509					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAAATCATGCAAATCTAAAC	0.368																																					Melanoma(49;821 1200 7288 13647 42351)												0													72	72	72					14																	33291546		2203	4299	6502	SO:0001587	stop_gained	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4527C>A	14.37:g.33291546C>A	ENSP00000280979:p.Cys1509*		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.C1509*	ENST00000280979.4	37	c.4527	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.337938	0.99142	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.79	3.01	0.34805	.	0.152323	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4754	3.546	0.07828	0.1695:0.5096:0.0:0.321	.	.	.	.	X	1509	.	ENSP00000280979:C1509X	C	+	3	2	AKAP6	32361297	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.183000	0.32041	0.804000	0.34136	0.655000	0.94253	TGC	AKAP6	-	NULL	ENSG00000151320		0.368	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0	46	0	C	NM_004274		33291546	1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	nonsense	32.14	19	9	SNP	1.000	A	A	33291546	C	A	33291546	4	1	2	1	0	0	0	0	0	1	0	0	455	718	25	3	4573	3	AKAP6	14	33291546	Nonsense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	8784535	33291546	74057994	156	577											
GPHN	10243	genome.wustl.edu	37	chr14	67346678	67346678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaaagaagtaatagaaCgggaagcaccagggatggcc	17	3	12	9	1	0	2	0	0	0	2	0	4	0	4	3	3	2	2	3	3	7	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr14:67346678C>T	ENST00000315266.5	+	5	1437	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	GPHN_ENST00000305960.9_Missense_Mutation_p.R75W|GPHN_ENST00000543237.1_Missense_Mutation_p.R119W|GPHN_ENST00000459628.1_Missense_Mutation_p.R88W|GPHN_ENST00000478722.1_Missense_Mutation_p.R106W|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	106	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.R106W(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGTAATAGAACGGGAAGCACC	0.408			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	1	Substitution - Missense(1)	large_intestine(1)											88	82	84					14																	67346678		2203	4300	6503	SO:0001583	missense	0			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.316C>T	14.37:g.67346678C>T	ENSP00000312771:p.Arg106Trp		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	p.R106W	ENST00000315266.5	37	c.316	CCDS32103.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.169766	0.94768	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.93	4.93	0.64822	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.91050	0.7184	M	0.92367	3.3	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.992;1.0;0.999;0.95;0.99	D	0.93249	0.6633	10	0.87932	D	0	-4.4638	18.4954	0.90863	0.0:1.0:0.0:0.0	.	75;119;106;106;88	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	W	106;106;88;119;75;39	ENSP00000312771:R106W;ENSP00000417901:R106W;ENSP00000452220:R88W;ENSP00000438404:R119W;ENSP00000303019:R75W;ENSP00000450706:R39W	ENSP00000303019:R75W	R	+	1	2	GPHN	66416431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.839000	0.55835	2.440000	0.82611	0.655000	0.94253	CGG	GPHN	-	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	ENSG00000171723		0.408	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2	-	0	38	0	C	NM_020806		67346678	1	tier1	-	no_errors	ENST00000478722	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	T	T	67346678	C	T	67346678	3	4	2	1	0	0	0	0	1	0	0	0	6636	527	19	1	334	1	GPHN	14	67346678	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	34055132	67346678	40002862	157	578											
KCNK10	54207	genome.wustl.edu	37	chr14	88693816	88693816	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccaaagagtggaattccaAagatggcatataaaatacaa	21	7	7	6	0	0	2	0	0	0	2	1	3	1	3	2	2	2	1	2	2	9	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr14:88693816A>T	ENST00000340700.5	-	4	1020	c.569T>A	c.(568-570)tTt>tAt	p.F190Y	KCNK10_ENST00000319231.5_Missense_Mutation_p.F195Y|KCNK10_ENST00000312350.5_Missense_Mutation_p.F195Y	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	190					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGAATTCCAAAGATGGCATA	0.428																																																	0													121	125	124					14																	88693816		2203	4300	6503	SO:0001583	missense	0			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6273	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 97"	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.569T>A	14.37:g.88693816A>T	ENSP00000343104:p.Phe190Tyr		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.F195Y	ENST00000340700.5	37	c.584	CCDS9880.1	14	.	.	.	.	.	.	.	.	.	.	A	34	5.396220	0.96009	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	T;T;T	0.32272	1.46;1.46;1.46	6.17	6.17	0.99709	Ion transport 2 (1);	0.044338	0.85682	D	0.000000	T	0.57140	0.2033	M	0.75085	2.285	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.99	D;D;P	0.71870	0.953;0.975;0.845	T	0.60311	-0.7288	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	190;195;195	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	Y	190;195;195	ENSP00000343104:F190Y;ENSP00000310568:F195Y;ENSP00000312811:F195Y	ENSP00000310568:F195Y	F	-	2	0	KCNK10	87763569	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TTT	KCNK10	-	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl	ENSG00000100433		0.428	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK10	HGNC	protein_coding	OTTHUMT00000410167.1	-	0	43	0	A	NM_021161		88693816	-1	tier1	-	no_errors	ENST00000312350	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	88693816	A	T	88693816	3	4	2	1	0	0	0	0	1	0	0	0	8086	14	1	5	1063	5	KCNK10	14	88693816	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	21347138	88693816	18655724	158	579											
RNF111	54778	genome.wustl.edu	37	chr15	59344540	59344540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgttgtggtgatagaagcttCctccactccccaggttactg	7	13	10	11	0	0	2	0	1	0	1	3	2	3	2	4	2	2	3	4	2	3	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr15:59344540C>G	ENST00000557998.1	+	3	1204	c.917C>G	c.(916-918)tCc>tGc	p.S306C	RNF111_ENST00000559209.1_Missense_Mutation_p.S306C|RNF111_ENST00000348370.4_Missense_Mutation_p.S306C|RNF111_ENST00000434298.1_Missense_Mutation_p.S306C|RNF111_ENST00000561186.1_Missense_Mutation_p.S306C	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	306	Interaction with AXIN1.|Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATAGAAGCTTCCTCCACTCCC	0.388																																					NSCLC(72;983 1365 10746 34387 47081)												0													153	144	147					15																	59344540		2192	4291	6483	SO:0001583	missense	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.917C>G	15.37:g.59344540C>G	ENSP00000452732:p.Ser306Cys		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S306C	ENST00000557998.1	37	c.917	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098024	0.76870	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.17370	2.28;2.28	5.47	4.55	0.56014	.	0.056504	0.64402	D	0.000001	T	0.29652	0.0740	L	0.36672	1.1	0.46028	D	0.998828	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.63192	0.912;0.818;0.912	T	0.03403	-1.1040	10	0.87932	D	0	-5.6075	14.4293	0.67238	0.0:0.9286:0.0:0.0714	.	306;306;306	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	C	306	ENSP00000288199:S306C;ENSP00000393641:S306C	ENSP00000288199:S306C	S	+	2	0	RNF111	57131832	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.984000	0.76186	1.296000	0.44742	0.514000	0.50259	TCC	RNF111	-	NULL	ENSG00000157450		0.388	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0	82	0	C	NM_017610		59344540	1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	G	G	59344540	C	G	59344540	3	3	2	1	0	0	0	0	1	0	0	0	13470	855	30	5	923	5	RNF111	15	59344540	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		59344540	43186852	159	580											
USP3	9960	genome.wustl.edu	37	chr15	63866317	63866317	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttaactgcctcatatgTgggacagaatctagaaagtt	13	11	11	6	0	2	2	1	0	1	2	2	4	2	3	1	2	2	2	1	2	5	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr15:63866317T>A	ENST00000380324.3	+	10	1110	c.981T>A	c.(979-981)tgT>tgA	p.C327*	USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Nonsense_Mutation_p.C310*|USP3_ENST00000268049.7_Nonsense_Mutation_p.C305*|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000559711.1_Nonsense_Mutation_p.C238*|USP3_ENST00000539772.1_Nonsense_Mutation_p.C78*|USP3_ENST00000540797.1_Nonsense_Mutation_p.C283*	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	327	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		GCCTCATATGTGGGACAGAAT	0.333																																																	0													102	99	100					15																	63866317		2203	4300	6503	SO:0001587	stop_gained	0			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"Ubiquitin-specific peptidases"	12626	protein-coding gene	gene with protein product		604728	"ubiquitin specific protease 3"			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.981T>A	15.37:g.63866317T>A	ENSP00000369681:p.Cys327*		B4DVU5|F5H1A6|Q8WVD0	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.C327*	ENST00000380324.3	37	c.981	CCDS32265.1	15	.	.	.	.	.	.	.	.	.	.	T	28.2	4.903411	0.92035	.	.	ENSG00000140455	ENST00000540797;ENST00000380324;ENST00000268049;ENST00000539772;ENST00000536848;ENST00000538686	.	.	.	6.07	3.8	0.43715	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2174	0.37355	0.0:0.2016:0.0:0.7984	.	.	.	.	X	283;327;305;78;242;158	.	ENSP00000268049:C305X	C	+	3	2	USP3	61653370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.851000	0.48302	0.552000	0.29026	0.533000	0.62120	TGT	USP3	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000140455		0.333	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	-	0	62	0	T			63866317	1	tier1	-	no_errors	ENST00000380324	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	A	A	63866317	T	A	63866317	4	1	2	1	0	0	0	0	0	1	0	0	17109	1702	59	5	1019	5	USP3	15	63866317	Nonsense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	4521777	63866317	38665075	160	581											
NEO1	4756	genome.wustl.edu	37	chr15	73547071	73547071	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccacacaaaatgggCagattactggctacaagatt	14	8	8	11	0	0	2	0	0	0	2	1	2	1	2	2	2	3	2	2	2	5	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr15:73547071C>T	ENST00000339362.5	+	14	2440	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*	NEO1_ENST00000261908.6_Nonsense_Mutation_p.Q665*|RP11-272D12.2_ENST00000560337.1_RNA|NEO1_ENST00000558964.1_Nonsense_Mutation_p.Q665*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.Q665*			Q92859	NEO1_HUMAN	neogenin 1	665	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACAAAATGGGCAGATTACTGG	0.468																																																	0													141	141	141					15																	73547071		2198	4297	6495	SO:0001587	stop_gained	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1993C>T	15.37:g.73547071C>T	ENSP00000341198:p.Gln665*		B7ZKM9|B7ZKN0|O00340|Q17RX1	Nonsense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q665*	ENST00000339362.5	37	c.1993	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	c	41	8.600544	0.98879	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.23	2.22	0.28083	.	0.422707	0.27253	N	0.020220	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	0.0786	16.3946	0.83586	0.0:0.6613:0.3387:0.0	.	.	.	.	X	665;403;665	.	ENSP00000261908:Q665X	Q	+	1	0	NEO1	71334124	0.953000	0.32496	0.864000	0.33941	0.911000	0.54048	1.855000	0.39378	0.184000	0.20083	0.655000	0.94253	CAG	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000067141		0.468	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0	59	0	C	NM_002499		73547071	1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	0.954	T	T	73547071	C	T	73547071	4	4	2	1	0	0	0	0	0	1	0	0	10375	711	25	3	2043	3	NEO1	15	73547071	Nonsense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	9680754	73547071	28984321	161	582											
HCN4	10021	genome.wustl.edu	37	chr15	73635767	73635767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaatgaggcgggagaggcGtaacaggcgtaagaggctga	12	5	18	6	4	0	4	0	2	0	2	1	6	0	4	0	5	1	3	0	5	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr15:73635767G>A	ENST00000261917.3	-	2	2161	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	RP11-272D12.1_ENST00000557981.1_RNA|RP11-272D12.1_ENST00000558742.1_RNA	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	390					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R390C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGAGGCGTAACAGGCGT	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											76	60	65					15																	73635767		2198	4297	6495	SO:0001583	missense	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1168C>T	15.37:g.73635767G>A	ENSP00000261917:p.Arg390Cys		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.R390C	ENST00000261917.3	37	c.1168	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975976	0.53720	.	.	ENSG00000138622	ENST00000261917	D	0.98849	-5.18	5.34	4.41	0.53225	Ion transport (1);	.	.	.	.	D	0.99324	0.9763	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	9	0.87932	D	0	.	13.62	0.62132	0.0:0.0:0.7195:0.2805	.	390	Q9Y3Q4	HCN4_HUMAN	C	390	ENSP00000261917:R390C	ENSP00000261917:R390C	R	-	1	0	HCN4	71422820	1.000000	0.71417	0.973000	0.42090	0.796000	0.44982	4.527000	0.60573	1.355000	0.45865	0.655000	0.94253	CGC	HCN4	-	pfam_Ion_trans_dom	ENSG00000138622		0.572	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	-	0	31	0	G	NM_005477		73635767	-1	tier1	-	no_errors	ENST00000261917	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	73635767	G	A	73635767	3	1	2	1	0	0	0	0	1	0	0	0	7026	1145	40	1	2471	1	HCN4	15	73635767	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	88696	73635767	28895625	162	583											
LMAN1L	79748	genome.wustl.edu	37	chr15	75112434	75112434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagcctgagtgagcccagCccagaggtgatgccagccct	8	7	12	14	0	1	4	1	3	0	1	1	4	1	4	5	1	5	0	5	1	0	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr15:75112434C>T	ENST00000309664.5	+	7	907	c.768C>T	c.(766-768)agC>agT	p.S256S	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Intron	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	256						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGAGCCCAGCCCAGAGGTGA	0.602																																																	0													182	131	148					15																	75112434		2197	4296	6493	SO:0001819	synonymous_variant	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.768C>T	15.37:g.75112434C>T			Q6UWN2	Silent	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.S256	ENST00000309664.5	37	c.768	CCDS10270.1	15																																																																																			LMAN1L	-	superfamily_ConA-like_lec_gl_sf	ENSG00000140506		0.602	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	-	0	46	0	C			75112434	1	tier1	-	no_errors	ENST00000309664	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.069	T	T	75112434	C	T	75112434	2	4	2	1	0	0	0	0	0	0	0	1	8867	738	26	3		3	LMAN1L	15	75112434	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	1476667	75112434	27418958	163	584											
AGBL1	123624	genome.wustl.edu	37	chr15	86822975	86822975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagtgaggatgtctgctaCctggcctaccactatcccta	9	10	8	14	0	1	1	0	1	1	0	2	2	2	2	4	2	3	1	4	2	4	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr15:86822975C>T	ENST00000441037.2	+	15	2138	c.2043C>T	c.(2041-2043)taC>taT	p.Y681Y	AGBL1_ENST00000421325.2_Silent_p.Y681Y|AGBL1_ENST00000389298.3_Silent_p.Y412Y	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	681					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGTCTGCTACCTGGCCTACC	0.517																																																	0													291	284	286					15																	86822975		2072	4211	6283	SO:0001819	synonymous_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2043C>T	15.37:g.86822975C>T			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.Y681	ENST00000441037.2	37	c.2043	CCDS58398.1	15																																																																																			AGBL1	-	NULL	ENSG00000166748		0.517	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	30	0	C	NM_152336		86822975	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T	T	86822975	C	T	86822975	2	4	2	1	0	0	0	0	0	0	0	1	375	518	18	3		3	AGBL1	15	86822975	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	11710541	86822975	15708417	164	585											
IFT140	9742	genome.wustl.edu	37	chr16	1576005	1576005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagggcctcctgccacCggcccgcagcctggtagaac	6	5	13	17	2	0	1	0	0	0	1	1	2	1	2	7	4	3	2	7	4	2	1	rs150498538	byFrequency	TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:1576005C>T	ENST00000426508.2	-	21	3014	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	IFT140_ENST00000361339.5_Missense_Mutation_p.R78Q|TMEM204_ENST00000253934.5_5'Flank	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	884					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CTCCTGCCACCGGCCCGCAGC	0.667																																																	0								C	GLN/ARG	0,4390		0,0,2195	38	36	37		2651	3.9	1	16	dbSNP_134	37	3,8591		0,3,4294	yes	missense	IFT140	NM_014714.3	43	0,3,6489	TT,TC,CC		0.0349,0.0,0.0231	benign	884/1463	1576005	3,12981	2195	4297	6492	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2651G>A	16.37:g.1576005C>T	ENSP00000406012:p.Arg884Gln		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R884Q	ENST00000426508.2	37	c.2651	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	2.044	-0.419267	0.04766	0.0	3.49E-4	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.55588	0.51;0.51	5.03	3.93	0.45458	.	0.067424	0.64402	N	0.000010	T	0.16385	0.0394	N	0.00510	-1.415	0.27314	N	0.957232	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.26710	-1.0095	10	0.06099	T	0.92	.	9.5058	0.39046	0.0:0.0814:0.0:0.9186	.	884;571	Q96RY7;B4DR58	IF140_HUMAN;.	Q	884;78;884	ENSP00000354895:R78Q;ENSP00000406012:R884Q	ENSP00000354895:R78Q	R	-	2	0	IFT140	1516006	1.000000	0.71417	0.987000	0.45799	0.022000	0.10575	4.102000	0.57776	0.886000	0.36113	-0.340000	0.08031	CGG	IFT140	-	NULL	ENSG00000187535		0.667	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	60	0	C	NM_014714		1576005	-1	tier1	rs150498538	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T	T	1576005	C	T	1576005	3	4	2	1	0	0	0	0	1	0	0	0	7583	652	23	1	1781	1	IFT140	16	1576005	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		1576005	88778748	165	586											
SRRM2	23524	genome.wustl.edu	37	chr16	2816429	2816429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggactccaccagtaaccaGgaggcgatctcgaagcagaa	14	4	11	12	2	1	1	0	0	1	1	3	5	2	3	3	3	2	2	3	3	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:2816429G>T	ENST00000301740.8	+	11	6449	c.5900G>T	c.(5899-5901)aGg>aTg	p.R1967M		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1967	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAGTAACCAGGAGGCGATCT	0.552																																																	0													64	65	64					16																	2816429		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5900G>T	16.37:g.2816429G>T	ENSP00000301740:p.Arg1967Met		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1967M	ENST00000301740.8	37	c.5900	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	10.10	1.256492	0.22965	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26957	1.7	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000009	T	0.31199	0.0789	N	0.08118	0	0.32604	N	0.525576	D	0.65815	0.995	D	0.69142	0.962	T	0.46721	-0.9171	10	0.66056	D	0.02	-9.695	16.3084	0.82859	0.0:0.0:1.0:0.0	.	1967	Q9UQ35	SRRM2_HUMAN	M	1967;1967;1219	ENSP00000301740:R1967M	ENSP00000301740:R1967M	R	+	2	0	SRRM2	2756430	0.460000	0.25776	0.997000	0.53966	0.969000	0.65631	3.806000	0.55583	2.454000	0.82982	0.650000	0.86243	AGG	SRRM2	-	NULL	ENSG00000167978		0.552	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	35	0	G			2816429	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.881	T	T	2816429	G	T	2816429	3	4	2	1	0	0	0	0	1	0	0	0	15216	1000	35	3	5938	3	SRRM2	16	2816429	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	1240424	2816429	87538324	166	587											
DNASE1	1773	genome.wustl.edu	37	chr16	3706656	3706656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcctgaccaggtgtctgCggtggacagctactactacg	8	8	13	12	2	1	1	0	1	1	0	1	2	1	2	2	4	5	1	2	4	3	3	rs199986334		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:3706656C>T	ENST00000246949.5	+	5	3547	c.338C>T	c.(337-339)gCg>gTg	p.A113V	DNASE1_ENST00000407479.1_Missense_Mutation_p.A113V|DNASE1_ENST00000414110.2_Missense_Mutation_p.R34W	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	113					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		CAGGTGTCTGCGGTGGACAGC	0.647																																																	0													44	39	41					16																	3706656		2196	4300	6496	SO:0001583	missense	0				CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.338C>T	16.37:g.3706656C>T	ENSP00000246949:p.Ala113Val		B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I	p.A113V	ENST00000246949.5	37	c.338	CCDS10507.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.007|0.007	-1.950326|-1.950326	0.00475|0.00475	.|.	.|.	ENSG00000213918|ENSG00000213918	ENST00000407479;ENST00000246949|ENST00000414110	T;T|T	0.37058|0.52295	1.22;1.22|0.67	5.49|5.49	1.99|1.99	0.26369|0.26369	Endonuclease/exonuclease/phosphatase (2);|.	0.449068|.	0.23307|.	N|.	0.049611|.	T|T	0.11110|0.11110	0.0271|0.0271	N|N	0.00044|0.00044	-2.46|-2.46	0.20975|0.20975	N|N	0.999811|0.999811	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.30995|0.30995	-0.9959|-0.9959	10|7	0.02654|0.62326	T|D	1|0.03	-0.4948|-0.4948	8.1685|8.1685	0.31241|0.31241	0.0:0.2279:0.0:0.7721|0.0:0.2279:0.0:0.7721	.|.	113|.	P24855|.	DNAS1_HUMAN|.	V|W	113|34	ENSP00000385905:A113V;ENSP00000246949:A113V|ENSP00000416699:R34W	ENSP00000246949:A113V|ENSP00000416699:R34W	A|R	+|+	2|1	0|2	DNASE1|DNASE1	3646657|3646657	0.918000|0.918000	0.31147|0.31147	0.004000|0.004000	0.12327|0.12327	0.050000|0.050000	0.14768|0.14768	1.578000|1.578000	0.36525|0.36525	0.064000|0.064000	0.16427|0.16427	-1.456000|-1.456000	0.01031|0.01031	GCG|CGG	DNASE1	-	pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I	ENSG00000213918		0.647	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1	HGNC	protein_coding	OTTHUMT00000251585.2	-	0	29	0	C			3706656	1	tier1	rs199986334	no_errors	ENST00000246949	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.071	T	T	3706656	C	T	3706656	3	4	2	1	0	0	0	0	1	0	0	0	4674	768	27	1	352	1	DNASE1	16	3706656	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	890227	3706656	86648097	167	588											
HS3ST4	9951	genome.wustl.edu	37	chr16	26147420	26147420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcagtgccccgaggTgcttaggcaagagcaaaggt	13	5	14	9	1	0	2	0	0	0	2	0	3	0	2	2	3	4	4	2	3	4	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:26147420T>C	ENST00000331351.5	+	2	1614	c.1222T>C	c.(1222-1224)Tgc>Cgc	p.C408R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	408					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TGCCCCGAGGTGCTTAGGCAA	0.473																																																	0													54	50	51					16																	26147420		1568	3582	5150	SO:0001583	missense	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1222T>C	16.37:g.26147420T>C	ENSP00000330606:p.Cys408Arg		Q5QI42|Q8NDC2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.C408R	ENST00000331351.5	37	c.1222	CCDS53995.1	16	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123229	0.77436	.	.	ENSG00000182601	ENST00000331351	D	0.82893	-1.66	5.56	5.56	0.83823	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	D	0.93880	0.8042	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95619	0.8679	10	0.87932	D	0	.	14.8801	0.70525	0.0:0.0:0.0:1.0	.	408	Q9Y661	HS3S4_HUMAN	R	408	ENSP00000330606:C408R	ENSP00000330606:C408R	C	+	1	0	HS3ST4	26054921	1.000000	0.71417	0.850000	0.33497	0.995000	0.86356	8.004000	0.88535	2.102000	0.63906	0.533000	0.62120	TGC	HS3ST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182601		0.473	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	-	0	47	0	T	NM_006040		26147420	1	tier1	-	no_errors	ENST00000331351	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	C	C	26147420	T	C	26147420	3	2	2	1	0	0	0	0	1	0	0	0	7394	1696	59	4	1228	4	HS3ST4	16	26147420	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	22440764	26147420	64207333	168	589											
ATXN2L	11273	genome.wustl.edu	37	chr16	28844774	28844774	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacagacaagtaaagaaatCaacgttgaaccctaatgcta	18	8	6	9	1	2	3	2	1	0	2	2	3	2	3	1	0	3	3	1	0	8	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:28844774C>G	ENST00000336783.4	+	15	2137	c.1970C>G	c.(1969-1971)tCa>tGa	p.S657*	ATXN2L_ENST00000340394.8_Nonsense_Mutation_p.S657*|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Nonsense_Mutation_p.S657*|ATXN2L_ENST00000564304.1_Nonsense_Mutation_p.S663*|ATXN2L_ENST00000382686.4_Nonsense_Mutation_p.S657*|ATXN2L_ENST00000570200.1_Nonsense_Mutation_p.S657*|ATXN2L_ENST00000325215.6_Nonsense_Mutation_p.S657*|ATXN2L_ENST00000565845.1_3'UTR	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	657					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTAAAGAAATCAACGTTGAAC	0.507																																																	0													118	92	101					16																	28844774		2197	4300	6497	SO:0001587	stop_gained	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1970C>G	16.37:g.28844774C>G	ENSP00000338718:p.Ser657*		A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Nonsense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S657*	ENST00000336783.4	37	c.1970	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	42	9.241986	0.99111	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.0927	18.3894	0.90477	0.0:1.0:0.0:0.0	.	.	.	.	X	657	.	ENSP00000315650:S657X	S	+	2	0	ATXN2L	28752275	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.242000	0.78210	2.653000	0.90120	0.563000	0.77884	TCA	ATXN2L	-	pfam_Ataxin-2_C	ENSG00000168488		0.507	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	-	0	28	0	C	NM_007245		28844774	1	tier1	-	no_errors	ENST00000395547	ensembl	human	known	74_37	nonsense	34.09	29	15	SNP	1.000	G	G	28844774	C	G	28844774	4	3	2	1	0	0	0	0	0	1	0	0	1213	838	29	5	2028	5	ATXN2L	16	28844774	Nonsense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	2697354	28844774	61509979	169	590											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29899040	29899040	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccctcagctgcttcaaTgacccaacggcaggtgaggt	8	7	12	14	2	2	2	2	2	0	0	2	2	2	2	3	3	3	3	3	3	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:29899040T>A	ENST00000308713.5	-	7	1665	c.1138A>T	c.(1138-1140)Att>Ttt	p.I380F	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.I310F|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.I336F|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.I266F|SEZ6L2_ENST00000562159.1_5'Flank	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	380	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTGCTTCAATGACCCAACGG	0.627																																																	0													65	60	62					16																	29899040		2197	4300	6497	SO:0001583	missense	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1138A>T	16.37:g.29899040T>A	ENSP00000312550:p.Ile380Phe		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I380F	ENST00000308713.5	37	c.1138	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	T	26.7	4.761136	0.89932	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.72	5.72	0.89469	CUB (4);	0.000000	0.56097	D	0.000025	T	0.77785	0.4182	M	0.82716	2.605	0.51482	D	0.999921	P;D;D;D;D;D	0.60160	0.93;0.987;0.987;0.985;0.987;0.985	P;P;P;P;P;P	0.58520	0.84;0.67;0.67;0.823;0.67;0.823	T	0.81801	-0.0766	10	0.87932	D	0	.	15.0362	0.71748	0.0:0.0:0.0:1.0	.	336;380;266;310;380;310	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	F	310;380;266;336	ENSP00000310206:I310F;ENSP00000312550:I380F;ENSP00000319215:I266F;ENSP00000439412:I336F	ENSP00000312550:I380F	I	-	1	0	SEZ6L2	29806541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.854000	0.39368	2.196000	0.70406	0.454000	0.30748	ATT	SEZ6L2	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000174938		0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	-	0	60	0	T	NM_012410		29899040	-1	tier1	-	no_errors	ENST00000308713	ensembl	human	known	74_37	missense	8.70	41	4	SNP	1.000	A	A	29899040	T	A	29899040	3	1	2	1	0	0	0	0	1	0	0	0	14189	1464	51	5	1681	5	SEZ6L2	16	29899040	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	1054266	29899040	60455713	170	591											
TBC1D10B	26000	genome.wustl.edu	37	chr16	30370588	30370588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccgtcatgtagagcacaGggtcaatgcgctgccgccgc	8	7	12	14	4	2	1	2	0	0	1	3	1	3	1	3	1	3	3	3	1	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:30370588G>C	ENST00000409939.3	-	7	1627	c.1547C>G	c.(1546-1548)cCt>cGt	p.P516R	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	516	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GTAGAGCACAGGGTCAATGCG	0.627																																																	0													27	26	26					16																	30370588		2197	4294	6491	SO:0001583	missense	0			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1547C>G	16.37:g.30370588G>C	ENSP00000386538:p.Pro516Arg		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P516R	ENST00000409939.3	37	c.1547	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214702	0.79352	.	.	ENSG00000169221	ENST00000409939	T	0.26660	1.72	4.79	4.79	0.61399	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75235	-0.3389	10	0.87932	D	0	.	16.7512	0.85487	0.0:0.0:1.0:0.0	.	516	Q4KMP7	TB10B_HUMAN	R	516	ENSP00000386538:P516R	ENSP00000386538:P516R	P	-	2	0	TBC1D10B	30278089	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	9.657000	0.98554	2.507000	0.84556	0.462000	0.41574	CCT	TBC1D10B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000169221		0.627	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	-	0	45	0	G	NM_015527		30370588	-1	tier1	-	no_errors	ENST00000409939	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	C	C	30370588	G	C	30370588	3	2	2	1	0	0	0	0	1	0	0	0	15646	1000	35	5	891	5	TBC1D10B	16	30370588	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	471548	30370588	59984165	171	592											
ITGAL	3683	genome.wustl.edu	37	chr16	30506164	30506164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgtttatctaccagaGaagacaggtggggccaggat	10	8	15	8	1	1	2	0	0	1	2	1	4	1	3	3	5	1	1	3	5	3	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:30506164G>T	ENST00000356798.6	+	13	1676	c.1496G>T	c.(1495-1497)aGa>aTa	p.R499I	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R416I|ITGAL_ENST00000568012.1_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	499					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ATCTACCAGAGAAGACAGGTG	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)												0													67	68	68					16																	30506164		2197	4300	6497	SO:0001583	missense	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1496G>T	16.37:g.30506164G>T	ENSP00000349252:p.Arg499Ile		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.R499I	ENST00000356798.6	37	c.1496	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910861	0.52439	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.11063	2.81;2.81	5.71	1.62	0.23740	.	0.325943	0.26489	N	0.024083	T	0.11239	0.0274	L	0.31804	0.96	0.09310	N	0.999997	P;B	0.52577	0.954;0.415	P;B	0.50617	0.646;0.147	T	0.11372	-1.0590	10	0.51188	T	0.08	.	7.6787	0.28500	0.3358:0.0:0.6642:0.0	.	416;499	Q96HB1;P20701	.;ITAL_HUMAN	I	499;416	ENSP00000349252:R499I;ENSP00000350886:R416I	ENSP00000349252:R499I	R	+	2	0	ITGAL	30413665	0.000000	0.05858	0.247000	0.24249	0.461000	0.32589	0.025000	0.13577	0.091000	0.17302	0.655000	0.94253	AGA	ITGAL	-	smart_Int_alpha_beta-p	ENSG00000005844		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0	71	0	G			30506164	1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.049	T	T	30506164	G	T	30506164	3	4	2	1	0	0	0	0	1	0	0	0	7913	942	33	3	1546	3	ITGAL	16	30506164	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	135576	30506164	59848589	172	593											
ELMO3	1874	genome.wustl.edu	37	chr16	67233891	67233891	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcagcatcctgtgccTcagcacggccccagtaatgc	9	7	11	14	1	1	0	1	0	0	0	2	1	2	0	4	2	4	4	4	2	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:67233891T>C	ENST00000379378.3	+	0	2096				ELMO3_ENST00000393997.2_Missense_Mutation_p.L130P|ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000360833.1_Intron|MIR328_ENST00000385213.1_RNA	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		ATCCTGTGCCTCAGCACGGCC	0.677																																																	0													45	47	46					16																	67233891		2008	4157	6165	SO:0001628	intergenic_variant	0			BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67233891T>C			A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L130P	ENST00000379378.3	37	c.389	CCDS32464.1	16	.	.	.	.	.	.	.	.	.	.	T	25.2	4.611985	0.87258	.	.	ENSG00000102890	ENST00000393997	T	0.40756	1.02	5.16	5.16	0.70880	.	0.000000	0.64402	U	0.000002	T	0.66025	0.2748	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71517	-0.4569	10	0.87932	D	0	-18.7993	13.8876	0.63717	0.0:0.0:0.0:1.0	.	130	Q96BJ8-3	.	P	130	ENSP00000377566:L130P	ENSP00000377566:L130P	L	+	2	0	ELMO3	65791392	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.122000	0.64697	1.968000	0.57251	0.374000	0.22700	CTC	ELMO3	-	NULL	ENSG00000102890		0.677	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000421565.1	-	0	75	0	T	NM_001950		67233891	1	tier1	-	no_errors	ENST00000393997	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	C	C	67233891	T	C	67233891	1	2	2	0	1	0	0	0	0	0	0	0	5083	1551	54	4		4	ELMO3	16	67233891	IGR	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	36727727	67233891	23120862	173	594											
FAM65A	79567	genome.wustl.edu	37	chr16	67574524	67574524	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctggaaactacggggcCgaattgagggtagtggaaag	12	6	17	6	3	0	1	0	1	0	0	0	4	0	3	1	5	3	2	1	5	5	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:67574524C>T	ENST00000379312.3	+	10	851	c.730C>T	c.(730-732)Cga>Tga	p.R244*	CTD-2012K14.4_ENST00000564717.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R260*|FAM65A_ENST00000566522.1_3'UTR|FAM65A_ENST00000540839.3_Nonsense_Mutation_p.R260*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R240*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R254*|CTD-2012K14.2_ENST00000567122.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	244						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ACTACGGGGCCGAATTGAGGG	0.537																																																	0													197	177	184					16																	67574524		2198	4300	6498	SO:0001587	stop_gained	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.730C>T	16.37:g.67574524C>T	ENSP00000368614:p.Arg244*		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.R260*	ENST00000379312.3	37	c.778	CCDS54028.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.086332|5.086332	0.94100|0.94100	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.056764	.|0.64402	.|D	.|0.000001	T|.	0.52757|.	0.1754|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42275|.	-0.9461|.	3|.	.|0.07175	.|T	.|0.84	-14.5104|-14.5104	19.2134|19.2134	0.93766|0.93766	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	234|244;240;260;254	.|.	.|ENSP00000042381:R240X	P|R	+|+	2|1	0|2	FAM65A|FAM65A	66132025|66132025	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.630000|2.630000	0.46494|0.46494	2.553000|2.553000	0.86117|0.86117	0.555000|0.555000	0.69702|0.69702	CCG|CGA	FAM65A	-	NULL	ENSG00000039523		0.537	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	-	0	52	0	C	NM_024519		67574524	1	tier1	-	no_errors	ENST00000422602	ensembl	human	known	74_37	nonsense	43.33	17	13	SNP	1.000	T	T	67574524	C	T	67574524	4	4	2	1	0	0	0	0	0	1	0	0	5621	644	23	1	752	1	FAM65A	16	67574524	Nonsense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	340633	67574524	22780229	174	595											
TSNAXIP1	55815	genome.wustl.edu	37	chr16	67857617	67857617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatgcgtatgaggggaTgctgggtaagaatgcacctc	12	8	14	7	1	0	3	0	1	0	2	1	4	0	4	1	3	3	4	1	3	5	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:67857617T>C	ENST00000388833.3	+	5	691	c.314T>C	c.(313-315)aTg>aCg	p.M105T	TSNAXIP1_ENST00000415766.3_Intron|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.M159T	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TATGAGGGGATGCTGGGTAAG	0.493																																																	0													86	82	84					16																	67857617		1963	4170	6133	SO:0001583	missense	0			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.314T>C	16.37:g.67857617T>C	ENSP00000373485:p.Met105Thr			Missense_Mutation	SNP	NULL	p.M105T	ENST00000388833.3	37	c.314	CCDS10846.2	16	.	.	.	.	.	.	.	.	.	.	T	1.338	-0.594819	0.03771	.	.	ENSG00000102904	ENST00000388833	T	0.00940	5.52	5.05	1.24	0.21308	.	0.071658	0.52532	D	0.000061	T	0.00666	0.0022	L	0.27053	0.805	0.18873	N	0.999989	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.48917	-0.8992	10	0.17832	T	0.49	-27.3798	2.1471	0.03790	0.2359:0.3242:0.0:0.44	.	159;105	B4DXD0;Q2TAA8	.;TXIP1_HUMAN	T	105	ENSP00000373485:M105T	ENSP00000373485:M105T	M	+	2	0	TSNAXIP1	66415118	0.654000	0.27367	0.906000	0.35671	0.081000	0.17604	1.110000	0.31147	0.775000	0.33450	0.533000	0.62120	ATG	TSNAXIP1	-	NULL	ENSG00000102904		0.493	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000268876.2	-	0	45	0	T	NM_018430		67857617	1	tier1	-	no_errors	ENST00000388833	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.342	C	C	67857617	T	C	67857617	3	2	2	1	0	0	0	0	1	0	0	0	16680	1464	51	4	324	4	TSNAXIP1	16	67857617	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	283093	67857617	22497136	175	596											
MTSS1L	92154	genome.wustl.edu	37	chr16	70698625	70698625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggccccgcgtcagcacCatggccaggtcactggcggc	6	5	13	17	3	3	0	3	0	0	0	3	0	3	0	4	5	1	1	4	5	0	0	rs139508787		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:70698625C>G	ENST00000338779.6	-	14	1621	c.1347G>C	c.(1345-1347)atG>atC	p.M449I	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	449					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GCGTCAGCACCATGGCCAGGT	0.667																																																	0													37	32	34					16																	70698625		2198	4300	6498	SO:0001583	missense	0				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1347G>C	16.37:g.70698625C>G	ENSP00000341171:p.Met449Ile		A6NJI7|Q9BUA8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD	p.M449I	ENST00000338779.6	37	c.1347	CCDS32476.1	16	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727870	0.48833	.	.	ENSG00000132613	ENST00000338779	T	0.31247	1.5	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	M	0.63428	1.95	0.53005	D	0.999963	B	0.22909	0.077	B	0.23150	0.044	T	0.12218	-1.0556	10	0.21014	T	0.42	-30.4334	17.6541	0.88173	0.0:1.0:0.0:0.0	.	449	Q765P7	MTSSL_HUMAN	I	449	ENSP00000341171:M449I	ENSP00000341171:M449I	M	-	3	0	MTSS1L	69256126	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	6.061000	0.71148	2.245000	0.73994	0.462000	0.41574	ATG	MTSS1L	-	NULL	ENSG00000132613		0.667	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1L	HGNC	protein_coding	OTTHUMT00000434927.3	-	0	39	0	C	NM_138383		70698625	-1	tier1	-	no_errors	ENST00000338779	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	G	G	70698625	C	G	70698625	3	3	2	1	0	0	0	0	1	0	0	0	10001	594	21	5	904	5	MTSS1L	16	70698625	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	2841008	70698625	19656128	176	597											
HYDIN	54768	genome.wustl.edu	37	chr16	70902609	70902609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagcttgcacctgatcCgcatattctttaggttgatg	8	14	11	8	1	1	3	0	2	1	1	2	4	2	3	2	2	2	4	2	2	2	6	rs543925506		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr16:70902609C>T	ENST00000393567.2	-	66	11324	c.11174G>A	c.(11173-11175)cGg>cAg	p.R3725Q	SNORD112_ENST00000515891.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3725					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCACCTGATCCGCATATTCTT	0.547																																																	0													48	46	47					16																	70902609		1940	4138	6078	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11174G>A	16.37:g.70902609C>T	ENSP00000377197:p.Arg3725Gln		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.R3725Q	ENST00000393567.2	37	c.11174	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	7.379	0.628404	0.14257	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00882	5.58	5.03	0.405	0.16361	.	1.822540	0.04312	U	0.349221	T	0.00666	0.0022	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48969	-0.8987	10	0.13470	T	0.59	.	0.1882	0.00131	0.2306:0.2777:0.2156:0.276	.	3724	F8WD23	.	Q	3725;3724	ENSP00000377197:R3725Q	ENSP00000313052:R3724Q	R	-	2	0	HYDIN	69460110	0.000000	0.05858	0.082000	0.20525	0.719000	0.41307	-0.181000	0.09740	0.169000	0.19679	0.511000	0.50034	CGG	HYDIN	-	NULL	ENSG00000157423		0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	48	0	C			70902609	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	44.12	19	15	SNP	0.000	T	T	70902609	C	T	70902609	3	4	2	1	0	0	0	0	1	0	0	0	7494	652	23	1	4275	1	HYDIN	16	70902609	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	203984	70902609	19452144	177	598											
SLC43A2	124935	genome.wustl.edu	37	chr17	1494657	1494657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgctccttggcactcctCatggagctgcccacactcag	7	9	8	17	0	2	0	2	0	0	0	4	1	4	1	4	2	3	3	4	2	0	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:1494657C>T	ENST00000301335.5	-	8	925	c.837G>A	c.(835-837)atG>atA	p.M279I	SLC43A2_ENST00000382147.4_Missense_Mutation_p.M279I|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000571650.1_Missense_Mutation_p.M279I|SLC43A2_ENST00000412517.3_Missense_Mutation_p.M142I	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	279					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGCACTCCTCATGGAGCTGC	0.632																																																	0													75	69	71					17																	1494657		2203	4300	6503	SO:0001583	missense	0			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"Solute carriers"	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.837G>A	17.37:g.1494657C>T	ENSP00000301335:p.Met279Ile		B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.M279I	ENST00000301335.5	37	c.837	CCDS11006.1	17	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769413	0.69992	.	.	ENSG00000167703	ENST00000301335;ENST00000382147;ENST00000412517	T;T;T	0.29397	2.0;2.01;1.57	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.071421	0.85682	D	0.000000	T	0.30262	0.0759	L	0.44542	1.39	0.80722	D	1	P;B;B;B	0.34587	0.458;0.023;0.002;0.001	B;B;B;B	0.31191	0.125;0.012;0.006;0.004	T	0.01951	-1.1241	10	0.33141	T	0.24	-3.5744	20.6439	0.99570	0.0:1.0:0.0:0.0	.	142;279;279;279	B7Z6X9;Q8N370-2;Q8N370;Q8N370-3	.;.;LAT4_HUMAN;.	I	279;279;142	ENSP00000301335:M279I;ENSP00000371582:M279I;ENSP00000408284:M142I	ENSP00000301335:M279I	M	-	3	0	SLC43A2	1441407	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	4.622000	0.61240	2.884000	0.98904	0.655000	0.94253	ATG	SLC43A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000167703		0.632	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	SLC43A2	HGNC	protein_coding	OTTHUMT00000206717.4	-	0	61	0	C	NM_152346		1494657	-1	tier1	-	no_errors	ENST00000382147	ensembl	human	known	74_37	missense	41.51	31	22	SNP	1.000	T	T	1494657	C	T	1494657	3	4	2	1	0	0	0	0	1	0	0	0	14678	826	29	3	900	3	SLC43A2	17	1494657	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		1494657	79700553	178	599											
RTN4RL1	146760	genome.wustl.edu	37	chr17	1840653	1840653	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtggttgtcctgcaggtAgaggtactgcaggctgtgca	7	11	16	7	0	0	1	0	0	0	1	1	2	1	1	1	4	4	7	1	4	2	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:1840653A>T	ENST00000331238.6	-	2	942	c.463T>A	c.(463-465)Tac>Aac	p.Y155N		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCTGCAGGTAGAGGTACTGC	0.607																																					GBM(68;949 1139 14865 32798 38342)												0													41	47	45					17																	1840653		2153	4252	6405	SO:0001583	missense	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.463T>A	17.37:g.1840653A>T	ENSP00000330631:p.Tyr155Asn			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Y155N	ENST00000331238.6	37	c.463	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320151	0.60634	.	.	ENSG00000185924	ENST00000331238	T	0.53206	0.63	5.52	5.52	0.82312	.	0.000000	0.35739	N	0.003018	T	0.47173	0.1431	N	0.16233	0.39	0.52501	D	0.999952	P	0.51351	0.944	P	0.55871	0.786	T	0.42865	-0.9426	10	0.31617	T	0.26	.	15.6931	0.77469	1.0:0.0:0.0:0.0	.	155	Q86UN2	R4RL1_HUMAN	N	155	ENSP00000330631:Y155N	ENSP00000330631:Y155N	Y	-	1	0	RTN4RL1	1787403	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.572000	0.82409	2.110000	0.64415	0.524000	0.50904	TAC	RTN4RL1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000185924		0.607	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0	35	0	A	NM_178568		1840653	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	missense	84.38	5	27	SNP	1.000	T	T	1840653	A	T	1840653	3	4	2	1	0	0	0	0	1	0	0	0	13776	420	15	5	866	5	RTN4RL1	17	1840653	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	345996	1840653	79354557	179	600											
OR1D2	4991	genome.wustl.edu	37	chr17	2995688	2995688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagatgaagcagcctgtGgcaatcagcactgtgtgatt	12	9	13	7	0	1	3	1	2	0	1	1	4	1	4	1	2	3	3	1	2	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:2995688G>A	ENST00000331459.1	-	1	602	c.603C>T	c.(601-603)gcC>gcT	p.A201A		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	201					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AGCAGCCTGTGGCAATCAGCA	0.428																																																	0													117	107	110					17																	2995688		2203	4300	6503	SO:0001819	synonymous_variant	0			U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"GPCR / Class A : Olfactory receptors"	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.603C>T	17.37:g.2995688G>A			Q6IFL8|Q96RA4|Q9UM78	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A201	ENST00000331459.1	37	c.603	CCDS11019.1	17																																																																																			OR1D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184166		0.428	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1D2	HGNC	protein_coding	OTTHUMT00000207207.1	-	0	58	0	G	NM_002548		2995688	-1	tier1	-	no_errors	ENST00000331459	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.000	A	A	2995688	G	A	2995688	2	1	2	1	0	0	0	0	0	0	0	1	10992	1335	47	3		3	OR1D2	17	2995688	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	1155035	2995688	78199522	180	601											
OR1G1	8390	genome.wustl.edu	37	chr17	3030711	3030711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtaatgatgactagaatGatgaggaggttgcctgccac	12	10	12	7	0	1	5	1	4	0	1	1	6	1	6	2	2	2	2	2	2	3	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:3030711G>A	ENST00000328890.2	-	1	164	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	45					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TGACTAGAATGATGAGGAGGT	0.527																																					Colon(127;1481 1654 8243 19426 50557)												0													113	102	106					17																	3030711		2203	4300	6503	SO:0001819	synonymous_variant	0			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.135C>T	17.37:g.3030711G>A			Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I45	ENST00000328890.2	37	c.135	CCDS11020.1	17																																																																																			OR1G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183024		0.527	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1G1	HGNC	protein_coding	OTTHUMT00000207206.2	-	0	35	0	G			3030711	-1	tier1	-	no_errors	ENST00000328890	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.187	A	A	3030711	G	A	3030711	2	1	2	1	0	0	0	0	0	0	0	1	10996	1280	45	3		3	OR1G1	17	3030711	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	35023	3030711	78164499	181	602											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	51	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	78.38	8	29	SNP	1.000	A	A	7577539	G	A	7577539	3	1	2	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	4546828	7577539	73617671	182	603											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319344	21319344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggcccatgtgcgcgcGcagctcatcaagccgcgggt	6	6	16	13	5	2	0	2	0	0	0	2	1	2	1	2	3	3	2	2	3	1	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:21319344G>A	ENST00000583088.1	+	3	1585	c.690G>A	c.(688-690)gcG>gcA	p.A230A	KCNJ12_ENST00000331718.5_Silent_p.A230A	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	230					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ATGTGCGCGCGCAGCTCATCA	0.642										Prostate(3;0.18)																																							0													88	69	76					17																	21319344		2203	4300	6503	SO:0001819	synonymous_variant	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.690G>A	17.37:g.21319344G>A			O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.A230	ENST00000583088.1	37	c.690	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	91	0	G	NM_021012		21319344	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	silent	13.89	62	10	SNP	0.992	A	A	21319344	G	A	21319344	2	1	2	1	0	0	0	0	0	0	0	1	8073	1074	38	1		1	KCNJ12	17	21319344	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	13741805	21319344	59875866	183	604											
PIGS	94005	genome.wustl.edu	37	chr17	26887182	26887182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgggacttggggtctgggTtgagtaaactgaaggtgatc	9	11	16	5	0	1	3	0	3	1	0	2	4	1	4	0	5	1	2	0	5	3	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:26887182T>A	ENST00000308360.7	-	7	1079	c.704A>T	c.(703-705)aAc>aTc	p.N235I	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.N174I|PIGS_ENST00000395346.2_Missense_Mutation_p.N227I	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	235					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGGGTCTGGGTTGAGTAAACT	0.547																																																	0													83	72	76					17																	26887182		2203	4300	6503	SO:0001583	missense	0				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.704A>T	17.37:g.26887182T>A	ENSP00000309430:p.Asn235Ile		Q6UVX6	Missense_Mutation	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.N235I	ENST00000308360.7	37	c.704	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	T	29.5	5.009090	0.93346	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.53640	0.61;0.61;0.61	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.86953	2.85	0.80722	D	1	D;D	0.57899	0.981;0.976	P;P	0.56343	0.796;0.693	T	0.73341	-0.4013	10	0.49607	T	0.09	-28.6257	16.4323	0.83853	0.0:0.0:0.0:1.0	.	235;227	Q96S52;Q96S52-2	PIGS_HUMAN;.	I	227;235;174	ENSP00000378755:N227I;ENSP00000309430:N235I;ENSP00000438447:N174I	ENSP00000309430:N235I	N	-	2	0	PIGS	23911309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.719000	0.68462	2.281000	0.76405	0.528000	0.53228	AAC	PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.547	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3	-	0	22	0	T	NM_033198		26887182	-1	tier1	-	no_errors	ENST00000308360	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	A	A	26887182	T	A	26887182	3	1	2	1	0	0	0	0	1	0	0	0	11937	1725	60	5	987	5	PIGS	17	26887182	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	5567838	26887182	54308028	184	605											
DDX42	11325	genome.wustl.edu	37	chr17	61887894	61887894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaccaagttcgatccatagCaagtcatgttcgtcctgaca	11	11	8	11	2	1	1	1	1	0	0	5	2	3	1	3	0	2	4	3	0	4	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:61887894C>G	ENST00000578681.1	+	13	1875	c.1274C>G	c.(1273-1275)gCa>gGa	p.A425G	DDX42_ENST00000583590.1_Missense_Mutation_p.A425G|DDX42_ENST00000359353.5_Missense_Mutation_p.A306G|DDX42_ENST00000389924.2_Missense_Mutation_p.A425G|DDX42_ENST00000457800.2_Missense_Mutation_p.A425G	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	425	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CGATCCATAGCAAGTCATGTT	0.353																																																	0													115	107	110					17																	61887894		2203	4300	6503	SO:0001583	missense	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1274C>G	17.37:g.61887894C>G	ENSP00000464050:p.Ala425Gly		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A425G	ENST00000578681.1	37	c.1274	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768336	0.90020	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.15487	2.42;2.42	5.79	5.79	0.91817	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	L	0.48935	1.535	0.80722	D	1	D	0.60160	0.987	D	0.63192	0.912	T	0.01452	-1.1351	10	0.72032	D	0.01	-12.4862	19.0293	0.92948	0.0:1.0:0.0:0.0	.	425	Q86XP3	DDX42_HUMAN	G	425;425;161	ENSP00000374574:A425G;ENSP00000390121:A425G	ENSP00000352308:A161G	A	+	2	0	DDX42	59241626	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.702000	0.84576	2.739000	0.93911	0.655000	0.94253	GCA	DDX42	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000198231		0.353	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	-	0	46	0	C	NM_007372		61887894	1	tier1	-	no_errors	ENST00000389924	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	G	G	61887894	C	G	61887894	3	3	2	1	0	0	0	0	1	0	0	0	4371	710	25	5	1316	5	DDX42	17	61887894	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	35000712	61887894	19307316	185	606											
CACNG5	27091	genome.wustl.edu	37	chr17	64880731	64880731	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacctacttcaactacaagTatgggtggtcgtttgccttc	9	13	9	10	1	1	1	1	0	0	1	3	1	1	1	2	2	4	2	2	2	5	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:64880731T>G	ENST00000533854.1	+	5	760	c.523T>G	c.(523-525)Tat>Gat	p.Y175D	CACNG5_ENST00000307139.3_Missense_Mutation_p.Y175D|CACNG5_ENST00000169565.3_Missense_Mutation_p.Y175D			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	175					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAACTACAAGTATGGGTGGTC	0.552																																																	0													123	109	114					17																	64880731		2203	4300	6503	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.523T>G	17.37:g.64880731T>G	ENSP00000436836:p.Tyr175Asp		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.Y175D	ENST00000533854.1	37	c.523	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887033	0.72410	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.91180	-2.8;-2.8;-2.8	3.86	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.95326	0.8483	M	0.86651	2.83	0.58432	D	0.999996	D	0.76494	0.999	D	0.87578	0.998	D	0.95832	0.8859	10	0.87932	D	0	-26.6016	12.858	0.57897	0.0:0.0:0.0:1.0	.	175	Q9UF02	CCG5_HUMAN	D	175	ENSP00000436836:Y175D;ENSP00000303092:Y175D;ENSP00000169565:Y175D	ENSP00000169565:Y175D	Y	+	1	0	CACNG5	62311193	1.000000	0.71417	0.997000	0.53966	0.908000	0.53690	7.364000	0.79526	1.996000	0.58369	0.496000	0.49642	TAT	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	ENSG00000075429		0.552	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0	47	0	T	NM_014404, NM_145811		64880731	1	tier1	-	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	G	G	64880731	T	G	64880731	3	3	2	1	0	0	0	0	1	0	0	0	2567	1638	57	4	537	4	CACNG5	17	64880731	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	2992837	64880731	16314479	186	607											
MAP2K6	5608	genome.wustl.edu	37	chr17	67515468	67515468	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagcggatccgagccacAgtaaatagccaggaacagaa	16	5	10	10	2	1	1	1	0	0	1	2	4	2	3	3	2	4	1	3	2	5	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:67515468A>G	ENST00000590474.1	+	5	548	c.261A>G	c.(259-261)acA>acG	p.T87T	MAP2K6_ENST00000589647.1_Silent_p.T31T	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TCCGAGCCACAGTAAATAGCC	0.473																																																	0													131	122	125					17																	67515468		2203	4300	6503	SO:0001819	synonymous_variant	0			U39064	CCDS11686.1	17q	2011-06-09						"Mitogen-activated protein kinase cascade / Kinase kinases"	6846	protein-coding gene	gene with protein product	"protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.261A>G	17.37:g.67515468A>G				Missense_Mutation	SNP	NULL	p.S67G	ENST00000590474.1	37	c.199	CCDS11686.1	17																																																																																			MAP2K6	-	NULL	ENSG00000108984		0.473	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K6	HGNC	protein_coding	OTTHUMT00000450689.1	-	0	67	0	A	NM_002758		67515468	1	tier1	-	no_errors	ENST00000359094	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.200	G	G	67515468	A	G	67515468	2	3	2	1	0	0	0	0	0	0	0	1	9279	175	7	4		4	MAP2K6	17	67515468	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	2634737	67515468	13679742	187	608											
FDXR	2232	genome.wustl.edu	37	chr17	72862650	72862650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgccccagaaggcacagCggccagaatgggccgtctgg	8	5	15	13	3	1	2	0	0	1	2	1	2	1	2	4	4	2	2	4	4	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:72862650C>T	ENST00000293195.5	-	4	389	c.311G>A	c.(310-312)cGc>cAc	p.R104H	FDXR_ENST00000583917.1_Missense_Mutation_p.R105H|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000442102.2_Missense_Mutation_p.R147H|FDXR_ENST00000582944.1_Missense_Mutation_p.R96H|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000413947.2_Missense_Mutation_p.R135H|FDXR_ENST00000544854.1_Missense_Mutation_p.R52H|FDXR_ENST00000581530.1_Missense_Mutation_p.R104H|FDXR_ENST00000455107.2_Missense_Mutation_p.R60H	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	104					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GAAGGCACAGCGGCCAGAATG	0.642																																																	0													41	34	37					17																	72862650		2203	4299	6502	SO:0001583	missense	0			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.311G>A	17.37:g.72862650C>T	ENSP00000293195:p.Arg104His		B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.R104H	ENST00000293195.5	37	c.311	CCDS58593.1	17	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519524	0.64634	.	.	ENSG00000161513	ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;0.997;0.994;1.0;0.994;0.999	D;D;D;P;P;P;D;P;P	0.91635	0.997;0.999;0.998;0.786;0.878;0.666;0.998;0.666;0.871	T	0.65800	-0.6080	10	0.72032	D	0.01	-8.6728	18.0275	0.89273	0.0:1.0:0.0:0.0	.	147;135;102;52;135;104;96;104;104	B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;ADRO_HUMAN;.	H	52;104;60;147;135	ENSP00000445432:R52H;ENSP00000293195:R104H;ENSP00000390875:R60H;ENSP00000416515:R147H;ENSP00000408595:R135H	ENSP00000293195:R104H	R	-	2	0	FDXR	70374245	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.779000	0.68948	2.362000	0.80069	0.561000	0.74099	CGC	FDXR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000161513		0.642	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FDXR	HGNC	protein_coding	OTTHUMT00000444449.1	-	0	31	0	C	NM_004110		72862650	-1	tier1	-	no_errors	ENST00000581530	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	T	T	72862650	C	T	72862650	3	4	2	1	0	0	0	0	1	0	0	0	5829	768	27	1	1218	1	FDXR	17	72862650	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	5347182	72862650	8332560	188	609											
TMC6	11322	genome.wustl.edu	37	chr17	76120698	76120700	+	In_Frame_Del	DEL	CAG	CAG	-																															gggcccatgatgaaggccacCagcagcagcagcaggagggc																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:76120698_76120700delCAG	ENST00000590602.1	-	8	955_957	c.796_798delCTG	c.(796-798)ctgdel	p.L266del	TMC6_ENST00000322914.3_In_Frame_Del_p.L266del|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000392467.3_In_Frame_Del_p.L266del|TMC6_ENST00000589553.1_In_Frame_Del_p.L39del|TMC6_ENST00000306591.7_In_Frame_Del_p.L266del|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	266				L -> P (in Ref. 2; AAP69874). {ECO:0000305}.	ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGAAGGCCACCAGCAGCAGCAGC	0.67																																																	0																																										SO:0001651	inframe_deletion	0			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.796_798delCTG	17.37:g.76120707_76120709delCAG	ENSP00000465261:p.Leu266del		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	In_Frame_Del	DEL	pfam_TMC	p.L266in_frame_del	ENST00000590602.1	37	c.798_796	CCDS32748.1	17																																																																																			TMC6	-	NULL	ENSG00000141524		0.67	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1		0	14	0	CAG			76120700	-1	tier1		no_errors	ENST00000322914	ensembl	human	known	74_37	in_frame_del	28.57	10	4	DEL	0.377:0.372:0.237	-	-	76120700	CAG	-	76120698	7	5	2	1	0	1	0	1	0	0	0	0	16036	581	21	0	1671	0	TMC6	17	76120698	In_Frame_Del	DEL	CAG	TCGA-2H-A9GG-01A-11D-A37C-09	3258048	76120698	5074512	189	610											
RNF213	57674	genome.wustl.edu	37	chr17	78321682	78321682	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacggtgctggagaaaTggcagaagagcatcgtggag	13	6	15	7	2	1	3	1	0	0	3	2	5	1	4	0	4	3	3	0	4	3	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr17:78321682T>A	ENST00000582970.1	+	29	9690	c.9547T>A	c.(9547-9549)Tgg>Agg	p.W3183R	RNF213_ENST00000508628.2_Missense_Mutation_p.W3232R|RNF213_ENST00000336301.6_Missense_Mutation_p.W1256R	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3183					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTGGAGAAATGGCAGAAGAG	0.488																																																	0													75	75	75					17																	78321682		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9547T>A	17.37:g.78321682T>A	ENSP00000464087:p.Trp3183Arg		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.W3183R	ENST00000582970.1	37	c.9547	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	T	7.137	0.580971	0.13686	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.15952	2.38	5.41	1.91	0.25777	.	0.408163	0.25820	N	0.028093	T	0.10508	0.0257	L	0.49350	1.555	0.22424	N	0.999117	B	0.16166	0.016	B	0.15052	0.012	T	0.31420	-0.9944	10	0.10377	T	0.69	.	0.8282	0.01125	0.24:0.1494:0.139:0.4716	.	1256	Q63HN8	RN213_HUMAN	R	3183;3232;1256	ENSP00000338218:W1256R	ENSP00000338218:W1256R	W	+	1	0	RNF213	75936277	0.985000	0.35326	0.481000	0.27354	0.401000	0.30781	1.874000	0.39568	0.414000	0.25790	0.460000	0.39030	TGG	RNF213	-	superfamily_P-loop_NTPase	ENSG00000173821		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	42	0	T	NM_020914		78321682	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.397	A	A	78321682	T	A	78321682	3	1	2	1	0	0	0	0	1	0	0	0	13522	1464	51	5	9976	5	RNF213	17	78321682	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	2200984	78321682	2873528	190	611											
SYT4	6860	genome.wustl.edu	37	chr18	40850584	40850585	+	Missense_Mutation	DNP	CA	CA	TT																															cttggagattctctttttggCatggtacaggttcactttga																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr18:40850584_40850585CA>TT	ENST00000255224.3	-	4	1367_1368	c.999_1000TG>AA	c.(997-1002)caTGcc>caAAcc	p.333_334HA>QT	SYT4_ENST00000590752.1_Missense_Mutation_p.315_316HA>QT|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	333	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCTTTTTGGCATGGTACAGGT	0.446																																					NSCLC(85;81 1419 2855 22820 35912)												0																																										SO:0001583	missense	0			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"Synaptotagmins"	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.999_1000delinsTT	18.37:g.40850584_40850585delinsTT	ENSP00000255224:p.H333_A334delinsQT		B4DEU3|Q9P2K4	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.A334T|p.H333Q	ENST00000255224.3	37	c.1000|c.999	CCDS11922.1	18																																																																																			SYT4	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000132872		0.446	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	-	0	62|63	0	C|A	NM_020783		40850584|40850585	-1	tier1	-	no_errors	ENST00000255224	ensembl	human	known	74_37	missense	34.00|33.33	33|34	17	SNP	1.000|0.999	T	TT	40850585	CA	TT	40850584	3	4	2	1	0	0	0	0	1	0	0	0	15523	710	25	3	281	3	SYT4	18	40850584	Missense_Mutation	DNP	CA	TCGA-2H-A9GG-01A-11D-A37C-09		40850584	37226664	191	612											
PIAS4	51588	genome.wustl.edu	37	chr19	4013274	4013274	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttgcccgccaagaccctCaagccagaagtccgcctggt	8	6	11	16	3	1	2	1	0	0	2	2	2	2	2	6	2	2	1	6	2	3	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:4013274C>G	ENST00000262971.2	+	2	496	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	127	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAAGACCCTCAAGCCAGAAG	0.592																																																	0													50	49	49					19																	4013274		2203	4299	6502	SO:0001819	synonymous_variant	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.381C>G	19.37:g.4013274C>G			O75926|Q96G19|Q9UN16	Silent	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.L127	ENST00000262971.2	37	c.381	CCDS12118.1	19																																																																																			PIAS4	-	NULL	ENSG00000105229		0.592	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	HGNC	protein_coding	OTTHUMT00000457496.1	-	0	102	0	C	NM_015897		4013274	1	tier1	-	no_errors	ENST00000262971	ensembl	human	known	74_37	silent	6.96	107	8	SNP	0.790	G	G	4013274	C	G	4013274	2	3	2	1	0	0	0	0	0	0	0	1	11917	813	29	5		5	PIAS4	19	4013274	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		4013274	55115709	192	613											
C19orf53	28974	genome.wustl.edu	37	chr19	13888981	13888981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaagaagaaaggggcagCtgccgccacctcctccaaga	13	3	11	14	1	0	3	0	0	0	3	2	3	2	3	6	2	3	2	6	2	4	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:13888981C>T	ENST00000588234.1	+	3	579	c.269C>T	c.(268-270)gCt>gTt	p.A90V	C19orf53_ENST00000593274.1_Missense_Mutation_p.A47V	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	90										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAAGGGGCAGCTGCCGCCACC	0.597																																																	0													45	42	43					19																	13888981		2203	4300	6503	SO:0001583	missense	0			AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"leydig cell tumor 10 kDa protein homolog"					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.269C>T	19.37:g.13888981C>T	ENSP00000465432:p.Ala90Val		B2R4J9	Missense_Mutation	SNP	pfam_UPF0390	p.A90V	ENST00000588234.1	37	c.269	CCDS12298.1	19	.	.	.	.	.	.	.	.	.	.	C	9.594	1.127004	0.20959	.	.	ENSG00000104979	ENST00000221576	.	.	.	0.99	-1.56	0.08532	.	1.446920	0.04433	N	0.369631	T	0.14313	0.0346	.	.	.	0.09310	N	1	P	0.47604	0.898	B	0.28784	0.094	T	0.33033	-0.9884	8	0.36615	T	0.2	.	5.788	0.18345	0.0:0.6641:0.3359:0.0	.	90	Q9UNZ5	L10K_HUMAN	V	90	.	ENSP00000221576:A90V	A	+	2	0	C19orf53	13749981	0.001000	0.12720	0.007000	0.13788	0.052000	0.14988	0.229000	0.17833	0.300000	0.22699	0.306000	0.20318	GCT	C19orf53	-	NULL	ENSG00000104979		0.597	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf53	HGNC	protein_coding	OTTHUMT00000453621.1	-	0	50	0	C	NM_014047		13888981	1	tier1	-	no_errors	ENST00000588234	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.010	T	T	13888981	C	T	13888981	3	4	2	1	0	0	0	0	1	0	0	0	1942	797	28	3	279	3	C19orf53	19	13888981	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	9875707	13888981	45240002	193	614											
MYO9B	4650	genome.wustl.edu	37	chr19	17294679	17294680	+	Splice_Site	INS	-	-	A																															aagcagatcattccaaaggtINSaaaaaaaaaaacacaccccg																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:17294679_17294680insA	ENST00000594824.1	+	16	2520		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411																																																	2	Unknown(2)	soft_tissue(2)																																								SO:0001630	splice_region_variant	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2373+2->A	19.37:g.17294690_17294690dupA			O75314|Q9NUJ2|Q9UHN0	Splice_Site	INS	-	e15+2	ENST00000594824.1	37	c.2373+2_2373+1		19																																																																																			MYO9B	-	-	ENSG00000099331		0.411	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0	47	0	-		Intron	17294680	1	tier1		no_errors	ENST00000594824	ensembl	human	known	74_37	splice_site_ins	9.68	28	3	INS	1.000:1.000	A	A	17294680	-	A	17294679	8	5	2	1	0	1	1	0	0	0	1	0	10123	1652	57	0	2433	0	MYO9B	19	17294679	Splice_Site	INS	-	TCGA-2H-A9GG-01A-11D-A37C-09	3405698	17294679	41834304	194	615											
ANKLE1	126549	genome.wustl.edu	37	chr19	17394145	17394145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggctgacccaggaccccCcagcctccctgttccccttg	5	7	10	19	0	0	1	0	1	0	0	2	3	2	3	8	3	1	2	8	3	0	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:17394145C>G	ENST00000394458.3	+	5	848	c.572C>G	c.(571-573)cCc>cGc	p.P191R	ANKLE1_ENST00000594072.1_Missense_Mutation_p.P180R|ANKLE1_ENST00000433424.2_Missense_Mutation_p.P245R|ANKLE1_ENST00000598347.1_Missense_Mutation_p.P191R|ANKLE1_ENST00000404085.1_Missense_Mutation_p.P213R	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	191										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCAGGACCCCCCAGCCTCCCT	0.592																																																	0													67	77	74					19																	17394145		2202	4300	6502	SO:0001583	missense	0			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"Ankyrin repeat domain containing"	26812	protein-coding gene	gene with protein product	"LEM domain containing 6"		"ankyrin repeat domain 41"	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.572C>G	19.37:g.17394145C>G	ENSP00000377971:p.Pro191Arg		A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom	p.P191R	ENST00000394458.3	37	c.572	CCDS12354.2	19	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039548	0.35989	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.72725	-0.57;-0.68;-0.65	4.1	3.04	0.35103	.	2.490280	0.01718	N	0.028145	T	0.66396	0.2785	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.48230	0.907;0.815;0.906;0.845	B;B;P;B	0.49752	0.425;0.295;0.621;0.368	T	0.59080	-0.7521	10	0.23302	T	0.38	-11.331	8.2915	0.31960	0.0:0.8789:0.0:0.1211	.	191;177;191;180	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	R	191;245;213;180;191	ENSP00000384753:P191R;ENSP00000394460:P245R;ENSP00000384008:P213R	ENSP00000377971:P180R	P	+	2	0	ANKLE1	17255145	0.008000	0.16893	0.099000	0.21106	0.115000	0.19883	0.662000	0.25038	2.000000	0.58554	0.313000	0.20887	CCC	ANKLE1	-	NULL	ENSG00000160117		0.592	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	-	0	37	0	C	NM_152363		17394145	1	tier1	-	no_errors	ENST00000394458	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.210	G	G	17394145	C	G	17394145	3	3	2	1	0	0	0	0	1	0	0	0	632	623	22	5	590	5	ANKLE1	19	17394145	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	99466	17394145	41734838	195	616											
NCAN	1463	genome.wustl.edu	37	chr19	19338672	19338672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagactgccactgagccaaCgggcctcaggggtatcccgg	8	6	14	13	2	1	2	1	2	0	1	2	3	2	2	4	4	3	1	4	4	2	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:19338672C>T	ENST00000252575.6	+	8	2342	c.2243C>T	c.(2242-2244)aCg>aTg	p.T748M	NCAN_ENST00000538881.1_Missense_Mutation_p.T199M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	748					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	ACTGAGCCAACGGGCCTCAGG	0.587																																																	0													64	69	67					19																	19338672		2203	4300	6503	SO:0001583	missense	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2243C>T	19.37:g.19338672C>T	ENSP00000252575:p.Thr748Met		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.T748M	ENST00000252575.6	37	c.2243	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	6.790	0.514698	0.12944	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.86297	-1.84;-2.1	3.23	-2.85	0.05734	.	0.862963	0.09498	N	0.794019	T	0.70263	0.3204	N	0.08118	0	0.09310	N	1	B;B	0.24258	0.1;0.008	B;B	0.10450	0.005;0.002	T	0.56347	-0.7994	10	0.46703	T	0.11	.	7.7279	0.28771	0.0:0.3614:0.0:0.6386	.	762;748	Q4LE67;O14594	.;NCAN_HUMAN	M	762;748;199	ENSP00000252575:T748M;ENSP00000442202:T199M	ENSP00000252575:T748M	T	+	2	0	NCAN	19199672	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.442000	0.06871	-0.498000	0.06632	-1.090000	0.02178	ACG	NCAN	-	NULL	ENSG00000130287		0.587	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	-	0	38	0	C	NM_004386		19338672	1	tier1	-	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.000	T	T	19338672	C	T	19338672	3	4	2	1	0	0	0	0	1	0	0	0	10243	536	19	1	2269	1	NCAN	19	19338672	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	1944527	19338672	39790311	196	617											
ZNF101	94039	genome.wustl.edu	37	chr19	19790986	19790986	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaaaaaccctttgattgTaaacagtgtggtaaagtctt	14	12	10	5	0	1	2	0	1	1	1	1	3	1	2	1	2	2	2	1	2	6	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:19790986T>G	ENST00000592502.1	+	4	1298	c.1188T>G	c.(1186-1188)tgT>tgG	p.C396W	ZNF101_ENST00000415784.2_Missense_Mutation_p.C276W			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CCTTTGATTGTAAACAGTGTG	0.448																																																	0													75	71	72					19																	19790986		2203	4300	6503	SO:0001583	missense	0			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1188T>G	19.37:g.19790986T>G	ENSP00000468049:p.Cys396Trp		C9JU83|Q0VDG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C396W	ENST00000592502.1	37	c.1188	CCDS32971.1	19	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252924	0.22965	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	D;D	0.85258	-1.96;-1.96	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94994	0.8380	H	0.99789	4.78	0.19775	N	0.99996	D	0.89917	1.0	D	0.97110	1.0	D	0.84440	0.0582	8	.	.	.	.	4.8392	0.13481	0.0:2.0E-4:0.0:0.9998	.	396	Q8IZC7	ZN101_HUMAN	W	396;396;276	ENSP00000319716:C396W;ENSP00000400952:C276W	.	C	+	3	2	ZNF101	19651986	0.000000	0.05858	0.190000	0.23270	0.190000	0.23558	-0.340000	0.07821	0.263000	0.21812	0.260000	0.18958	TGT	ZNF101	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181896		0.448	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	-	0	44	0	T	NM_033204		19790986	1	tier1	-	no_errors	ENST00000318110	ensembl	human	known	74_37	missense	71.05	11	27	SNP	0.034	G	G	19790986	T	G	19790986	3	3	2	1	0	0	0	0	1	0	0	0	17762	1644	57	4	1202	4	ZNF101	19	19790986	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	452314	19790986	39337997	197	618											
ZNF85	7639	genome.wustl.edu	37	chr19	21132975	21132975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctttaaccagtcctcaaAccttactaaacataagagaa	17	9	4	11	0	1	1	1	0	0	1	2	2	2	1	4	0	5	0	4	0	7	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:21132975A>T	ENST00000328178.8	+	4	1768	c.1655A>T	c.(1654-1656)aAc>aTc	p.N552I	ZNF85_ENST00000601023.1_Missense_Mutation_p.N493I|ZNF85_ENST00000345030.6_Missense_Mutation_p.N519I	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	552					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAGTCCTCAAACCTTACTAAA	0.348																																																	0													31	34	33					19																	21132975		2188	4290	6478	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1655A>T	19.37:g.21132975A>T	ENSP00000329793:p.Asn552Ile		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N552I	ENST00000328178.8	37	c.1655	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.043088	0.00398	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.07567	3.18;3.18	1.34	-2.68	0.06041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	L	0.42632	1.34	0.09310	N	1	B;B;B	0.28439	0.212;0.122;0.115	B;B;B	0.33196	0.067;0.016;0.159	T	0.42916	-0.9423	9	0.18276	T	0.48	.	8.2402	0.31656	0.7324:0.2676:0.0:0.0	.	519;493;552	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	I	552;519;427	ENSP00000329793:N552I;ENSP00000342340:N519I	ENSP00000329793:N552I	N	+	2	0	ZNF85	20924815	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-5.530000	0.00115	-1.304000	0.02329	-0.691000	0.03719	AAC	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.348	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0	52	0	A	NM_003429		21132975	1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	47.50	21	19	SNP	0.001	T	T	21132975	A	T	21132975	3	4	2	1	0	0	0	0	1	0	0	0	18241	43	2	5	1669	5	ZNF85	19	21132975	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	1341989	21132975	37996008	198	619											
ZNF492	57615	genome.wustl.edu	37	chr19	22836737	22836737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaggtattgctgcctctaAgccagacctgatcacctgtc	10	10	8	13	0	2	2	1	1	1	1	3	2	2	2	4	1	4	2	4	1	3	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:22836737A>G	ENST00000456783.2	+	3	294	c.50A>G	c.(49-51)aAg>aGg	p.K17R		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCTGCCTCTAAGCCAGACCTG	0.403																																																	0													52	63	59					19																	22836737		2188	4276	6464	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.50A>G	19.37:g.22836737A>G	ENSP00000413660:p.Lys17Arg		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K17R	ENST00000456783.2	37	c.50	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	13.91	2.377066	0.42105	.	.	ENSG00000229676	ENST00000456783	T	0.00902	5.56	0.458	0.458	0.16670	Krueppel-associated box (3);	.	.	.	.	T	0.02970	0.0088	M	0.83118	2.625	0.09310	N	1	D	0.58268	0.982	P	0.52909	0.713	T	0.33497	-0.9866	8	0.66056	D	0.02	.	.	.	.	.	17	Q9P255	ZN492_HUMAN	R	17	ENSP00000413660:K17R	ENSP00000413660:K17R	K	+	2	0	ZNF492	22628577	0.971000	0.33674	0.381000	0.26106	0.364000	0.29643	1.268000	0.33062	0.407000	0.25591	0.397000	0.26171	AAG	ZNF492	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000229676		0.403	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	-	0	116	0	A	NM_020855		22836737	1	tier1	-	no_errors	ENST00000456783	ensembl	human	known	74_37	missense	25.40	47	16	SNP	0.455	G	G	22836737	A	G	22836737	3	3	2	1	0	0	0	0	1	0	0	0	17991	72	3	4	56	4	ZNF492	19	22836737	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	1703762	22836737	36292246	199	620											
TSHZ3	57616	genome.wustl.edu	37	chr19	31768323	31768323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcactcttcccttttgtCaagtctatgggctggtcgtt	4	18	9	10	1	4	0	2	0	2	0	6	0	5	0	1	2	0	2	1	2	2	6			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:31768323C>T	ENST00000240587.4	-	2	2703	c.2376G>A	c.(2374-2376)ttG>ttA	p.L792L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	792					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCCTTTTGTCAAGTCTATGG	0.587																																																	0													96	81	86					19																	31768323		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2376G>A	19.37:g.31768323C>T			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L792	ENST00000240587.4	37	c.2376	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	46	0	C	NM_020856		31768323	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	32.08	36	17	SNP	1.000	T	T	31768323	C	T	31768323	2	4	2	1	0	0	0	0	0	0	0	1	16673	825	29	3		3	TSHZ3	19	31768323	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	8931586	31768323	27360660	200	621											
ZNF599	148103	genome.wustl.edu	37	chr19	35250120	35250120	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggtttttctccagtgTggatcctattatgccgaaca	11	13	8	9	1	1	0	0	0	1	0	3	2	2	1	3	2	2	1	3	2	5	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:35250120T>A	ENST00000329285.8	-	4	1959	c.1586A>T	c.(1585-1587)cAc>cTc	p.H529L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TTCTCCAGTGTGGATCCTATT	0.428																																																	0													106	107	106					19																	35250120		2203	4300	6503	SO:0001583	missense	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1586A>T	19.37:g.35250120T>A	ENSP00000333802:p.His529Leu		Q569K0|Q5PRG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H529L	ENST00000329285.8	37	c.1586	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182403	0.38511	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.67345	-0.26	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84857	0.5565	H	0.96208	3.785	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.86618	0.1877	9	0.87932	D	0	.	8.9704	0.35903	0.0:0.0:0.0:1.0	.	529	Q96NL3	ZN599_HUMAN	L	528;529;303	ENSP00000333802:H529L	ENSP00000333802:H529L	H	-	2	0	ZNF599	39941960	1.000000	0.71417	0.935000	0.37517	0.123000	0.20343	3.437000	0.52863	1.415000	0.47037	0.482000	0.46254	CAC	ZNF599	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153896		0.428	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	-	0	93	0	T	XM_086046		35250120	-1	tier1	-	no_errors	ENST00000329285	ensembl	human	known	74_37	missense	21.69	129	36	SNP	1.000	A	A	35250120	T	A	35250120	3	1	2	1	0	0	0	0	1	0	0	0	18077	1696	59	5	184	5	ZNF599	19	35250120	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	3481797	35250120	23878863	201	622											
ZNF345	25850	genome.wustl.edu	37	chr19	37368711	37368711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagcctttagaagtggtTcaaaacttattcagcatcaa	16	11	7	7	0	3	2	3	0	0	2	3	2	3	2	1	1	3	2	1	1	7	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:37368711T>G	ENST00000529555.1	+	2	1767	c.979T>G	c.(979-981)Tca>Gca	p.S327A	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.S327A|ZNF345_ENST00000589046.1_Missense_Mutation_p.S327A|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	327					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGAAGTGGTTCAAAACTTAT	0.408																																																	0													75	81	79					19																	37368711		2203	4300	6503	SO:0001583	missense	0			X78933	CCDS12497.1	19q13.12	2013-01-08			ENSG00000251247	ENSG00000251247		"Zinc fingers, C2H2-type"	16367	protein-coding gene	gene with protein product						7865130	Standard	NM_003419		Approved	HZF10	uc002oey.4	Q14585	OTTHUMG00000048162	ENST00000529555.1:c.979T>G	19.37:g.37368711T>G	ENSP00000431202:p.Ser327Ala			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S327A	ENST00000529555.1	37	c.979	CCDS12497.1	19	.	.	.	.	.	.	.	.	.	.	T	8.434	0.849260	0.17034	.	.	ENSG00000251247	ENST00000420450;ENST00000529555;ENST00000344705	T;T	0.01560	4.77;4.77	3.8	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	L	0.48642	1.525	0.09310	N	1	B	0.18741	0.03	B	0.12837	0.008	T	0.38373	-0.9664	9	0.42905	T	0.14	.	5.8793	0.18846	0.2345:0.0:0.0:0.7655	.	327	Q14585	ZN345_HUMAN	A	327;327;91	ENSP00000431216:S327A;ENSP00000431202:S327A	ENSP00000442320:S91A	S	+	1	0	ZNF345	42060551	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.112000	0.10791	1.699000	0.51192	0.379000	0.24179	TCA	ZNF345	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000251247		0.408	ZNF345-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000388258.1	-	0	44	0	T			37368711	1	tier1	-	no_errors	ENST00000420450	ensembl	human	known	74_37	missense	15.49	60	11	SNP	0.071	G	G	37368711	T	G	37368711	3	3	2	1	0	0	0	0	1	0	0	0	17907	1783	62	4	981	4	ZNF345	19	37368711	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	2118591	37368711	21760272	202	623											
PSMC4	5704	genome.wustl.edu	37	chr19	40485723	40485723	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgtcatcctgtcatcaGctgcattcatccgggtcgtg	5	14	10	12	2	4	0	4	0	0	0	7	0	6	0	2	1	2	3	2	1	0	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:40485723G>T	ENST00000157812.2	+	7	871		c.e7-1		PSMC4_ENST00000455878.2_Splice_Site	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CCTGTCATCAGCTGCATTCAT	0.547																																					Colon(105;1478 1543 4034 6132 38638)												0													91	97	95					19																	40485723		2203	4300	6503	SO:0001630	splice_region_variant	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.674-1G>T	19.37:g.40485723G>T			Q96FV5|Q9UBM3|Q9UEX3	Splice_Site	SNP	-	e7-1	ENST00000157812.2	37	c.674-1	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111809	0.37242	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0951	0.89487	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC4	45177563	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.902000	0.87389	2.878000	0.98634	0.650000	0.86243	.	PSMC4	-	-	ENSG00000013275		0.547	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	-	0	56	0	G	NM_006503	Intron	40485723	1	tier1	-	no_errors	ENST00000157812	ensembl	human	known	74_37	splice_site	7.02	53	4	SNP	1.000	T	T	40485723	G	T	40485723	5	4	2	1	0	0	0	0	0	0	1	0	12731	985	34	3	699	3	PSMC4	19	40485723	Splice_Site	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	3117012	40485723	18643260	203	624											
LIG1	3978	genome.wustl.edu	37	chr19	48647140	48647140	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaagggagaaacctcacTtctggcccggtttccagcag	11	8	11	11	1	2	2	1	1	1	1	3	3	3	2	3	3	2	2	3	3	3	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:48647140T>A	ENST00000263274.7	-	10	1276	c.857A>T	c.(856-858)aAg>aTg	p.K286M	LIG1_ENST00000427526.2_Splice_Site_p.K255M|CTC-453G23.4_ENST00000594589.1_RNA|LIG1_ENST00000536218.1_Splice_Site_p.K218M	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	286					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GAAACCTCACTTCTGGCCCGG	0.547								Nucleotide excision repair (NER)																																									0													126	131	129					19																	48647140		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.857+1A>T	19.37:g.48647140T>A			B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.K286M	ENST00000263274.7	37	c.857	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	T	18.11	3.550511	0.65311	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218;ENST00000542460	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.88	2.77	0.32553	DNA ligase, ATP-dependent, N-terminal (2);	0.278062	0.39210	N	0.001426	T	0.27559	0.0677	L	0.53249	1.67	0.47153	D	0.999336	B;P;P	0.41102	0.35;0.738;0.479	B;P;B	0.51055	0.26;0.657;0.26	T	0.01874	-1.1256	9	.	.	.	-24.8221	6.9085	0.24323	0.0:0.2024:0.0:0.7976	.	255;218;286	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	M	286;317;255;218;254	ENSP00000263274:K286M;ENSP00000442841:K255M;ENSP00000441531:K218M;ENSP00000445928:K254M	.	K	-	2	0	LIG1	53338952	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.930000	0.28858	0.950000	0.37743	0.533000	0.62120	AAG	LIG1	-	superfamily_DNA_ligase_ATP-dep_N	ENSG00000105486		0.547	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	-	0	55	0	T	NM_000234	Missense_Mutation	48647140	-1	tier1	-	no_errors	ENST00000263274	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	48647140	T	A	48647140	5	1	2	1	0	0	0	0	0	0	1	0	8810	1623	56	5	1978	5	LIG1	19	48647140	Splice_Site	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	8161417	48647140	10481843	204	625											
ZNF320	162967	genome.wustl.edu	37	chr19	53384008	53384008	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatggattctctgatgcctAataaggtgtgaaggtgaatt	11	14	12	4	0	1	3	0	3	1	0	2	4	1	4	1	3	1	1	1	3	5	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:53384008A>T	ENST00000595635.1	-	8	1872	c.1371T>A	c.(1369-1371)atT>atA	p.I457I	ZNF320_ENST00000391781.2_Silent_p.I457I|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGATGCCTAATAAGGTGTG	0.413																																																	0													84	73	76					19																	53384008		2203	4300	6503	SO:0001819	synonymous_variant	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1371T>A	19.37:g.53384008A>T			Q8NDR6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I457	ENST00000595635.1	37	c.1371	CCDS33095.1	19																																																																																			ZNF320	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182986		0.413	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	-	0	73	0	A	NM_207333		53384008	-1	tier1	-	no_errors	ENST00000391781	ensembl	human	known	74_37	silent	67.61	23	48	SNP	0.000	T	T	53384008	A	T	53384008	2	4	2	1	0	0	0	0	0	0	0	1	17887	358	13	5		5	ZNF320	19	53384008	Silent	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	4736868	53384008	5744975	205	626											
ZNF415	55786	genome.wustl.edu	37	chr19	53611982	53611982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactcattacacttgtaaGgtttctctccagtatgaact	11	14	5	11	0	2	1	1	1	1	0	4	1	3	1	1	1	2	3	1	1	4	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:53611982G>A	ENST00000500065.4	-	4	1649	c.1316C>T	c.(1315-1317)cCt>cTt	p.P439L	ZNF415_ENST00000455735.2_Missense_Mutation_p.P487L|ZNF415_ENST00000448501.1_Missense_Mutation_p.P487L|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.P451L|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.P439L|ZNF415_ENST00000440291.1_Missense_Mutation_p.P426L|ZNF415_ENST00000601493.1_Missense_Mutation_p.P209L	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ACACTTGTAAGGTTTCTCTCC	0.408																																																	0													151	141	144					19																	53611982		2203	4300	6503	SO:0001583	missense	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1316C>T	19.37:g.53611982G>A	ENSP00000439435:p.Pro439Leu		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.P487L	ENST00000500065.4	37	c.1460	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661844	0.67700	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	2.61	1.52	0.23074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36054	0.0953	M	0.72479	2.2	0.36141	D	0.846778	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.978;0.996;0.993;0.978;0.988;0.997	T	0.39231	-0.9624	9	0.66056	D	0.02	.	8.6958	0.34296	0.0:0.0:0.5969:0.4031	.	439;487;487;439;426;451	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	L	439;439;487;451;487;426	ENSP00000243643:P439L;ENSP00000439435:P439L;ENSP00000396492:P487L;ENSP00000395055:P451L;ENSP00000388787:P487L;ENSP00000414601:P426L	ENSP00000243643:P439L	P	-	2	0	ZNF415	58303794	0.989000	0.36119	0.001000	0.08648	0.679000	0.39708	3.367000	0.52350	0.418000	0.25898	0.313000	0.20887	CCT	ZNF415	-	pfscan_Znf_C2H2	ENSG00000170954		0.408	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	-	0	64	0	G	NM_018355		53611982	-1	tier1	-	no_errors	ENST00000448501	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.938	A	A	53611982	G	A	53611982	3	1	2	1	0	0	0	0	1	0	0	0	17940	1000	35	3	355	3	ZNF415	19	53611982	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	227974	53611982	5517001	206	627											
NLRP2	55655	genome.wustl.edu	37	chr19	55494867	55494867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggacattcaacggtgacaGacctgcaggagctcctcggc	9	7	13	12	2	1	2	1	1	0	1	3	4	2	4	2	4	3	2	2	4	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:55494867G>C	ENST00000543010.1	+	6	1944	c.1801G>C	c.(1801-1803)Gac>Cac	p.D601H	NLRP2_ENST00000448584.2_Missense_Mutation_p.D601H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D579H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D577H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D598H|NLRP2_ENST00000538819.1_Missense_Mutation_p.D577H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D578H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D579H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	601					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AACGGTGACAGACCTGCAGGA	0.527																																																	0													104	89	94					19																	55494867		2203	4300	6503	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1801G>C	19.37:g.55494867G>C	ENSP00000445135:p.Asp601His		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D601H	ENST00000543010.1	37	c.1801	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709695	0.30322	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75154	-0.86;-0.82;-0.81;-0.86;-0.81;-0.91;-0.82;-0.86	1.94	1.94	0.25998	.	1.002550	0.08048	N	0.996147	T	0.81987	0.4939	M	0.65975	2.015	0.09310	N	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.74674	0.938;0.984;0.965;0.984;0.965	T	0.66480	-0.5913	10	0.30078	T	0.28	.	7.4225	0.27079	0.0:0.0:1.0:0.0	.	578;579;598;577;601	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	H	601;577;579;601;579;578;577;598	ENSP00000445135:D601H;ENSP00000375601:D577H;ENSP00000344074:D579H;ENSP00000409370:D601H;ENSP00000440601:D579H;ENSP00000402474:D578H;ENSP00000441133:D577H;ENSP00000263437:D598H	ENSP00000263437:D598H	D	+	1	0	NLRP2	60186679	.	.	0.001000	0.08648	0.003000	0.03518	.	.	1.412000	0.46977	0.561000	0.74099	GAC	NLRP2	-	NULL	ENSG00000022556		0.527	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0	60	0	G	NM_017852		55494867	1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.001	C	C	55494867	G	C	55494867	3	2	2	1	0	0	0	0	1	0	0	0	10516	942	33	5	1819	5	NLRP2	19	55494867	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	1882885	55494867	3634116	207	628											
ZNF17	7565	genome.wustl.edu	37	chr19	57932734	57932734	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagatacaactccagccTcattaaacatcggagaattc	14	11	5	11	1	1	2	1	0	0	2	4	3	2	2	2	1	4	0	2	1	6	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:57932734T>G	ENST00000601808.1	+	3	2087	c.1874T>G	c.(1873-1875)cTc>cGc	p.L625R	ZNF17_ENST00000307658.7_Missense_Mutation_p.L627R|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AACTCCAGCCTCATTAAACAT	0.418																																					Melanoma(149;1637 1853 29914 42869 44988)												0													51	55	53					19																	57932734		2196	4299	6495	SO:0001583	missense	0			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"Zinc fingers, C2H2-type", "-"	12958	protein-coding gene	gene with protein product			"zinc finger protein 17 (HPF3, KOX 10)"			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1874T>G	19.37:g.57932734T>G	ENSP00000471905:p.Leu625Arg		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L625R	ENST00000601808.1	37	c.1874	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	T	13.29	2.194267	0.38806	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.57	0.339	0.15979	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68979	0.3060	M	0.92219	3.285	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.56288	-0.8004	8	0.87932	D	0	.	3.2203	0.06713	0.1793:0.2148:0.0:0.6059	.	627;625	P17021-2;P17021	.;ZNF17_HUMAN	R	625	.	ENSP00000302455:L625R	L	+	2	0	ZNF17	62624546	0.000000	0.05858	0.001000	0.08648	0.197000	0.23852	0.171000	0.16685	-0.125000	0.11703	0.460000	0.39030	CTC	ZNF17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186272		0.418	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	-	0	83	0	T	NM_006959		57932734	1	tier1	-	no_errors	ENST00000601808	ensembl	human	known	74_37	missense	8.70	62	6	SNP	0.033	G	G	57932734	T	G	57932734	3	3	2	1	0	0	0	0	1	0	0	0	17791	1551	54	4	1884	4	ZNF17	19	57932734	Missense_Mutation	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	2437867	57932734	1196249	208	629											
ZNF544	27300	genome.wustl.edu	37	chr19	58773550	58773550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatgagtgcaacctgtgtggGaaatccttctcccagagttc	9	12	10	10	0	1	2	0	1	1	1	4	3	2	3	3	1	2	2	3	1	3	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:58773550G>A	ENST00000596652.1	+	6	1812	c.1578G>A	c.(1576-1578)ggG>ggA	p.G526G	ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_Silent_p.G498G|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000415203.2_Silent_p.G498G|ZNF544_ENST00000269829.4_Silent_p.G526G|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599953.1_Silent_p.G384G|ZNF544_ENST00000600220.1_Silent_p.G498G|ZNF544_ENST00000596825.1_3'UTR			Q6NX49	ZN544_HUMAN	zinc finger protein 544	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACCTGTGTGGGAAATCCTTCT	0.443																																																	0													84	87	86					19																	58773550		2203	4300	6503	SO:0001819	synonymous_variant	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1578G>A	19.37:g.58773550G>A			A8K6J1|Q9UEX4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G526	ENST00000596652.1	37	c.1578	CCDS12973.1	19																																																																																			ZNF544	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198131		0.443	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	-	0	42	0	G	NM_014480		58773550	1	tier1	-	no_errors	ENST00000269829	ensembl	human	known	74_37	silent	18.00	41	9	SNP	0.630	A	A	58773550	G	A	58773550	2	1	2	1	0	0	0	0	0	0	0	1	18025	1161	41	3		3	ZNF544	19	58773550	Silent	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	840816	58773550	355433	209	630											
RPS5	6193	genome.wustl.edu	37	chr19	58904798	58904798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccacacgcattgggcgcGccgggactgtgagacgacag	9	5	14	13	5	0	1	0	1	0	1	1	4	1	2	2	2	0	1	2	2	0	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr19:58904798G>A	ENST00000596046.1	+	3	1240	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	RPS5_ENST00000601521.1_Missense_Mutation_p.A131T|RPS5_ENST00000598495.1_Missense_Mutation_p.A152T|RPS5_ENST00000196551.3_Missense_Mutation_p.A131T|AC012313.1_ENST00000601382.1_5'Flank|RPS5_ENST00000598098.1_Missense_Mutation_p.A61T			P46782	RS5_HUMAN	ribosomal protein S5	131					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CATTGGGCGCGCCGGGACTGT	0.632																																																	0													76	66	69					19																	58904798		2203	4300	6503	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"S ribosomal proteins"	10426	protein-coding gene	gene with protein product	"40S ribosomal protein S5"	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.391G>A	19.37:g.58904798G>A	ENSP00000472985:p.Ala131Thr		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.A131T	ENST00000596046.1	37	c.391	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760810	0.69763	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.78	4.78	0.61160	Ribosomal protein S7 domain (3);	0.055638	0.64402	D	0.000001	D	0.85336	0.5673	H	0.96080	3.765	0.80722	D	1	D	0.69078	0.997	P	0.59221	0.854	D	0.90368	0.4378	9	0.87932	D	0	-14.3151	15.6905	0.77446	0.0:0.0:1.0:0.0	.	131	P46782	RS5_HUMAN	T	131	.	ENSP00000196551:A131T	A	+	1	0	RPS5	63596610	1.000000	0.71417	0.982000	0.44146	0.639000	0.38242	8.383000	0.90157	2.389000	0.81357	0.655000	0.94253	GCC	RPS5	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.632	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	-	0	51	0	G	NM_001009		58904798	1	tier1	-	no_errors	ENST00000196551	ensembl	human	known	74_37	missense	48.68	39	37	SNP	1.000	A	A	58904798	G	A	58904798	3	1	2	1	0	0	0	0	1	0	0	0	13693	1087	38	1	401	1	RPS5	19	58904798	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	131248	58904798	224185	210	631											
ADAM33	80332	genome.wustl.edu	37	chr20	3652088	3652088	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctgtggcaggcagtcAggcagcgctgaagctcctgg	6	7	17	11	2	1	1	1	1	0	0	2	1	2	1	1	5	2	6	1	5	1	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr20:3652088A>T	ENST00000356518.2	-	17	2202	c.1961T>A	c.(1960-1962)cTg>cAg	p.L654Q	ADAM33_ENST00000379861.4_Missense_Mutation_p.L654Q|ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000350009.2_Intron	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	654	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCAGGCAGTCAGGCAGCGCTG	0.637																																																	0													66	67	66					20																	3652088		2203	4300	6503	SO:0001583	missense	0			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"ADAM metallopeptidase domain containing"	15478	protein-coding gene	gene with protein product		607114	"a disintegrin and metalloproteinase domain 33", "chromosome 20 open reading frame 153"	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1961T>A	20.37:g.3652088A>T	ENSP00000348912:p.Leu654Gln		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L654Q	ENST00000356518.2	37	c.1961	CCDS13058.1	20	.	.	.	.	.	.	.	.	.	.	A	7.119	0.577551	0.13686	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000439201	T;T	0.01446	4.88;4.89	5.46	3.01	0.34805	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.02688	0.0081	L	0.28556	0.865	0.09310	N	1	D;D	0.55800	0.973;0.973	P;P	0.57468	0.821;0.807	T	0.42666	-0.9438	9	0.11182	T	0.66	.	5.0191	0.14352	0.6814:0.1558:0.1627:0.0	.	654;654	Q9BZ11;A2A2L3	ADA33_HUMAN;.	Q	654;654;534	ENSP00000348912:L654Q;ENSP00000369190:L654Q	ENSP00000348912:L654Q	L	-	2	0	ADAM33	3600088	0.000000	0.05858	0.822000	0.32727	0.016000	0.09150	0.168000	0.16622	0.864000	0.35578	0.459000	0.35465	CTG	ADAM33	-	pfscan_EG-like_dom	ENSG00000149451		0.637	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	HGNC	protein_coding	OTTHUMT00000077763.2	-	0	54	0	A	NM_025220		3652088	-1	tier1	-	no_errors	ENST00000356518	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.004	T	T	3652088	A	T	3652088	3	4	2	1	0	0	0	0	1	0	0	0	250	188	7	5	504	5	ADAM33	20	3652088	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09		3652088	59373432	211	632											
CST2	1470	genome.wustl.edu	37	chr20	23804666	23804666	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacagatccctaggcttcTtgacacctggaattcaccag	10	9	9	13	0	2	2	1	1	1	1	3	3	3	3	3	3	0	2	3	3	2	4			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr20:23804666T>C	ENST00000304725.2	-	3	487	c.417A>G	c.(415-417)caA>caG	p.Q139Q		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	139					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CCTAGGCTTCTTGACACCTGG	0.567																																					Pancreas(193;496 3017 22514 29918)												0													125	104	111					20																	23804666		2203	4300	6503	SO:0001819	synonymous_variant	0			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"cystatin 2"	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.417A>G	20.37:g.23804666T>C			Q9UCQ7	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.Q139	ENST00000304725.2	37	c.417	CCDS13161.1	20																																																																																			CST2	-	smart_Prot_inh_cystat	ENSG00000170369		0.567	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST2	HGNC	protein_coding	OTTHUMT00000078352.2	-	0	75	0	T			23804666	-1	tier1	-	no_errors	ENST00000304725	ensembl	human	known	74_37	silent	5.36	106	6	SNP	0.000	C	C	23804666	T	C	23804666	2	2	2	1	0	0	0	0	0	0	0	1	3981	1606	56	4		4	CST2	20	23804666	Silent	SNP	T	TCGA-2H-A9GG-01A-11D-A37C-09	20152578	23804666	39220854	212	633											
TOP1	7150	genome.wustl.edu	37	chr20	39750349	39750349	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctagattgatgccaagaAggaacagctagcagatgccc	13	6	10	12	0	0	4	0	1	0	3	0	5	0	5	4	1	5	2	4	1	5	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr20:39750349A>T	ENST00000361337.2	+	19	2214	c.1964A>T	c.(1963-1965)aAg>aTg	p.K655M	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	655					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GATGCCAAGAAGGAACAGCTA	0.458			T	NUP98	AML*																																			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													209	219	216					20																	39750349		2203	4300	6503	SO:0001583	missense	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1964A>T	20.37:g.39750349A>T	ENSP00000354522:p.Lys655Met		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.K655M	ENST00000361337.2	37	c.1964	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	A	26.3	4.723671	0.89298	.	.	ENSG00000198900	ENST00000361337	T	0.52754	0.65	5.91	5.91	0.95273	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);	0.169262	0.64402	D	0.000008	T	0.71779	0.3380	M	0.92459	3.31	0.80722	D	1	P	0.51791	0.948	P	0.55055	0.767	T	0.79831	-0.1637	10	0.87932	D	0	-18.8624	16.3483	0.83171	1.0:0.0:0.0:0.0	.	655	P11387	TOP1_HUMAN	M	655	ENSP00000354522:K655M	ENSP00000354522:K655M	K	+	2	0	TOP1	39183763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.079000	0.71291	2.254000	0.74563	0.533000	0.62120	AAG	TOP1	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk	ENSG00000198900		0.458	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2	-	0	69	0	A			39750349	1	tier1	-	no_errors	ENST00000361337	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	39750349	A	T	39750349	3	4	2	1	0	0	0	0	1	0	0	0	16411	72	3	5	2038	5	TOP1	20	39750349	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	15945683	39750349	23275171	213	634											
CSE1L	1434	genome.wustl.edu	37	chr20	47701869	47701869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagattctgctaacaaacCttttcaaagctctcacactt	12	14	4	11	0	3	1	2	1	2	1	4	2	3	1	1	0	4	2	1	0	3	6	rs35437801		TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr20:47701869C>G	ENST00000262982.2	+	16	1792	c.1669C>G	c.(1669-1671)Ctt>Gtt	p.L557V	CSE1L_ENST00000396192.3_Missense_Mutation_p.L501V|CSE1L_ENST00000542325.1_Missense_Mutation_p.L340V	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	557					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GCTAACAAACCTTTTCAAAGC	0.413																																																	0													111	104	106					20																	47701869		2203	4300	6503	SO:0001583	missense	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1669C>G	20.37:g.47701869C>G	ENSP00000262982:p.Leu557Val		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L557V	ENST00000262982.2	37	c.1669	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830626	0.71258	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.77098	-1.07;-1.07;-1.07	5.56	4.62	0.57501	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.057058	0.64402	D	0.000001	D	0.86339	0.5909	M	0.76002	2.32	0.80722	D	1	D;D;D;D;D	0.76494	0.994;0.999;0.996;0.995;0.999	P;D;D;P;D	0.66497	0.821;0.944;0.941;0.858;0.944	D	0.87570	0.2477	10	0.56958	D	0.05	-23.1316	14.492	0.67657	0.0:0.9295:0.0:0.0705	.	246;340;501;501;557	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	V	155;557;340;501	ENSP00000262982:L557V;ENSP00000446477:L340V;ENSP00000379495:L501V	ENSP00000262982:L557V	L	+	1	0	CSE1L	47135276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.670000	0.54569	1.488000	0.48433	0.655000	0.94253	CTT	CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold	ENSG00000124207		0.413	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	-	0	34	0	C	NM_001316		47701869	1	tier1	-	no_errors	ENST00000262982	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	G	G	47701869	C	G	47701869	3	3	2	1	0	0	0	0	1	0	0	0	3939	681	24	5	1727	5	CSE1L	20	47701869	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	7951520	47701869	15323651	214	635											
RTEL1	51750	genome.wustl.edu	37	chr20	62322217	62322217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtatgagcaggagccaGttcctgcccggcagaggccc	8	6	15	12	1	0	2	0	1	0	1	1	4	1	4	4	4	3	4	4	4	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr20:62322217G>A	ENST00000360203.5	+	27	2798	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	RTEL1_ENST00000370003.1_Missense_Mutation_p.V70I|RTEL1_ENST00000370018.3_Missense_Mutation_p.V825I|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V825I|RTEL1_ENST00000318100.4_Missense_Mutation_p.V825I|RTEL1_ENST00000508582.2_Missense_Mutation_p.V849I					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCAGGAGCCAGTTCCTGCCCG	0.711																																																	0													21	26	24					20																	62322217		2177	4280	6457	SO:0001583	missense	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2473G>A	20.37:g.62322217G>A	ENSP00000353332:p.Val825Ile			Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.V825I	ENST00000360203.5	37	c.2473		20	.	.	.	.	.	.	.	.	.	.	G	7.991	0.753400	0.15778	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000425905;ENST00000370003	T;T;T;T;D;T	0.91577	2.97;2.97;2.97;2.97;-2.87;2.97	4.77	0.333	0.15943	.	1.771590	0.02575	N	0.098177	D	0.83700	0.5311	L	0.44542	1.39	0.09310	N	1	B;P;B;B	0.35272	0.001;0.493;0.0;0.0	B;B;B;B	0.30495	0.004;0.116;0.001;0.006	T	0.69277	-0.5187	10	0.30854	T	0.27	-0.5181	0.4612	0.00516	0.2396:0.1445:0.3189:0.297	.	849;70;825;825	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	I	825;825;849;825;218;70	ENSP00000359035:V825I;ENSP00000322287:V825I;ENSP00000424307:V849I;ENSP00000353332:V825I;ENSP00000388063:V218I;ENSP00000359020:V70I	ENSP00000353332:V825I	V	+	1	0	AL353715.1	61792661	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.084000	0.11268	0.047000	0.15862	-0.222000	0.12452	GTT	RTEL1	-	NULL	ENSG00000258366		0.711	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	-	0	66	0	G	NM_032957		62322217	1	tier1	-	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	12.50	70	10	SNP	0.000	A	A	62322217	G	A	62322217	3	1	2	1	0	0	0	0	1	0	0	0	13765	1029	36	3	2575	3	RTEL1	20	62322217	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	14620348	62322217	703303	215	636											
PRDM15	63977	genome.wustl.edu	37	chr21	43259951	43259951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggcttgttctaagtggcCcaacagatgttctgcaaaga	10	13	10	8	0	2	2	0	0	2	2	2	2	2	2	1	2	2	4	1	2	3	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr21:43259951C>A	ENST00000269844.3	-	14	1860	c.1750G>T	c.(1750-1752)Ggc>Tgc	p.G584C	PRDM15_ENST00000422911.1_Missense_Mutation_p.G255C|PRDM15_ENST00000398548.1_Missense_Mutation_p.G255C|PRDM15_ENST00000447207.2_Missense_Mutation_p.G218C|PRDM15_ENST00000538201.1_Missense_Mutation_p.G218C	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCTAAGTGGCCCAACAGATGT	0.587																																																	0													77	77	77					21																	43259951		2203	4300	6503	SO:0001583	missense	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1750G>T	21.37:g.43259951C>A	ENSP00000269844:p.Gly584Cys		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G584C	ENST00000269844.3	37	c.1750	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809563	0.31961	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	4.76	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.67458	0.2895	L	0.38838	1.175	0.33155	D	0.546239	D;B;B	0.71674	0.998;0.004;0.001	P;B;B	0.60173	0.87;0.002;0.002	T	0.68428	-0.5411	9	0.38643	T	0.18	2.1383	2.4876	0.04602	0.214:0.4075:0.0:0.3785	.	584;255;255	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	C	255;255;218;218;584;218	ENSP00000408592:G255C;ENSP00000381556:G255C;ENSP00000444044:G218C;ENSP00000390245:G218C;ENSP00000269844:G584C	ENSP00000269844:G584C	G	-	1	0	PRDM15	42133020	1.000000	0.71417	0.079000	0.20413	0.802000	0.45316	1.372000	0.34261	0.530000	0.28619	0.655000	0.94253	GGC	PRDM15	-	smart_Znf_C2H2-like	ENSG00000141956		0.587	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0	37	0	C	NM_022115		43259951	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.981	A	A	43259951	C	A	43259951	3	1	2	1	0	0	0	0	1	0	0	0	12498	623	22	3	2845	3	PRDM15	21	43259951	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		43259951	4869944	216	637											
PPM1F	9647	genome.wustl.edu	37	chr22	22277676	22277676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcgacacggagcccgCtgccctgctgcctggtcagg	4	6	14	17	4	1	0	1	0	0	0	2	2	1	1	4	4	4	2	4	4	0	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr22:22277676C>A	ENST00000263212.5	-	8	1259	c.1154G>T	c.(1153-1155)aGc>aTc	p.S385I	PPM1F_ENST00000407142.1_Missense_Mutation_p.S217I|PPM1F_ENST00000538191.1_Missense_Mutation_p.S281I	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	385					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		ACGGAGCCCGCTGCCCTGCTG	0.652																																																	0													40	44	42					22																	22277676		2203	4300	6503	SO:0001583	missense	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1154G>T	22.37:g.22277676C>A	ENSP00000263212:p.Ser385Ile		A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.S385I	ENST00000263212.5	37	c.1154	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364203	0.41902	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.11495	2.77;2.77;2.77	5.3	1.56	0.23342	Protein phosphatase 2C-like (5);	0.694304	0.15577	N	0.255147	T	0.10981	0.0268	L	0.41632	1.29	0.09310	N	1	P;P	0.34562	0.457;0.457	B;B	0.41917	0.258;0.37	T	0.24119	-1.0169	10	0.62326	D	0.03	-28.2011	4.8009	0.13296	0.1495:0.4404:0.0:0.4102	.	281;385	B7Z2C3;P49593	.;PPM1F_HUMAN	I	385;217;217;281	ENSP00000263212:S385I;ENSP00000384930:S217I;ENSP00000439915:S281I	ENSP00000263212:S385I	S	-	2	0	PPM1F	20607676	0.000000	0.05858	0.221000	0.23827	0.521000	0.34408	0.676000	0.25247	0.185000	0.20105	0.655000	0.94253	AGC	PPM1F	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000100034		0.652	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	-	0	73	0	C	NM_014634		22277676	-1	tier1	-	no_errors	ENST00000263212	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.000	A	A	22277676	C	A	22277676	3	1	2	1	0	0	0	0	1	0	0	0	12381	797	28	3	214	3	PPM1F	22	22277676	Missense_Mutation	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09		22277676	29026890	217	638											
SGSM1	129049	genome.wustl.edu	37	chr22	25294486	25294486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtgactacttctgccaAcgaggtgtcccctgtgtctt	5	13	11	12	1	2	1	0	1	2	0	3	2	3	1	3	2	3	1	3	2	2	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr22:25294486A>G	ENST00000400359.4	+	20	2742	c.2735A>G	c.(2734-2736)aAc>aGc	p.N912S	SGSM1_ENST00000400358.4_Missense_Mutation_p.N857S|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	912	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTTCTGCCAACGAGGTGTCC	0.572																																																	0													75	81	79					22																	25294486		2057	4194	6251	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"Small G protein signaling modulators"	29410	protein-coding gene	gene with protein product		611417	"RUN and TBC1 domain containing 2"	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2735A>G	22.37:g.25294486A>G	ENSP00000383212:p.Asn912Ser		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.N912S	ENST00000400359.4	37	c.2735	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	A	4.899	0.167119	0.09339	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06371	3.32;3.31	5.09	-3.87	0.04218	Rab-GAP/TBC domain (3);	0.516771	0.19521	U	0.112278	T	0.02571	0.0078	N	0.11560	0.145	0.19300	N	0.999979	B;B;B;B	0.28880	0.045;0.226;0.007;0.017	B;B;B;B	0.26969	0.026;0.075;0.009;0.009	T	0.47100	-0.9143	10	0.12430	T	0.62	-15.0922	10.5075	0.44842	0.2215:0.1677:0.6108:0.0	.	857;912;929;912	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	912;857;912	ENSP00000383211:N857S;ENSP00000383212:N912S	ENSP00000383211:N857S	N	+	2	0	SGSM1	23624486	0.744000	0.28250	0.470000	0.27216	0.977000	0.68977	0.947000	0.29082	-0.461000	0.06993	0.482000	0.46254	AAC	SGSM1	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167037		0.572	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	-	0	25	0	A	XM_059318		25294486	1	tier1	-	no_errors	ENST00000400359	ensembl	human	known	74_37	missense	77.27	5	17	SNP	0.289	G	G	25294486	A	G	25294486	3	3	2	1	0	0	0	0	1	0	0	0	14267	43	2	4	2813	4	SGSM1	22	25294486	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	3016810	25294486	26010080	218	639											
BRD1	23774	genome.wustl.edu	37	chr22	50217191	50217191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgactgcaggcagtggcGgcagagccactggccctcgg	6	4	16	15	4	0	1	0	0	0	1	1	2	0	1	3	5	2	3	3	5	0	0			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chr22:50217191G>A	ENST00000216267.8	-	1	1261	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.R259C|BRD1_ENST00000404034.1_Missense_Mutation_p.R259C|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.R259C|BRD1_ENST00000342989.5_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	259					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCAGTGGCGGCAGAGCCAC	0.642																																																	0													22	23	23					22																	50217191		2200	4294	6494	SO:0001583	missense	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.775C>T	22.37:g.50217191G>A	ENSP00000216267:p.Arg259Cys		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.R259C	ENST00000216267.8	37	c.775	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047639	0.55110	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.0	3.98	0.46160	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93562	0.7945	M	0.87900	2.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.93803	0.7103	9	.	.	.	.	12.8237	0.57708	0.0:0.0:0.5776:0.4224	.	259;259;259	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	C	259	ENSP00000216267:R259C;ENSP00000384076:R259C;ENSP00000385858:R259C;ENSP00000410042:R259C	.	R	-	1	0	BRD1	48603195	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	1.389000	0.34453	1.094000	0.41399	0.467000	0.42956	CGC	BRD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000100425		0.642	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	-	0	27	0	G	NM_014577		50217191	-1	tier1	-	no_errors	ENST00000216267	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	A	A	50217191	G	A	50217191	3	1	2	1	0	0	0	0	1	0	0	0	1505	1116	39	1	2449	1	BRD1	22	50217191	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	24922705	50217191	1087375	219	640											
DMD	1756	genome.wustl.edu	37	chrX	31187701	31187701	+	Frame_Shift_Del	DEL	A	A	-																															tttggcagtaatgctggattAacaaatgttcatcatctctg																										TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chrX:31187701delA	ENST00000357033.4	-	74	10618	c.10412delT	c.(10411-10413)ttafs	p.L3471fs	DMD_ENST00000474231.1_Frame_Shift_Del_p.L1011fs|DMD_ENST00000359836.1_Frame_Shift_Del_p.L998fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.L403fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.L3467fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.L390fs|DMD_ENST00000378680.2_Intron|DMD_ENST00000378707.3_Frame_Shift_Del_p.L1011fs|DMD_ENST00000541735.1_Intron|DMD_ENST00000343523.2_Intron|DMD_ENST00000378723.3_Frame_Shift_Del_p.L403fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3471	Binds to SNTB1.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGCTGGATTAACAAATGTTC	0.443																																																	0			GRCh37	CM054661	DMD	M							42	37	39					X																	31187701		2202	4300	6502	SO:0001589	frameshift_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10412delT	X.37:g.31187701delA	ENSP00000354923:p.Leu3471fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L3471fs	ENST00000357033.4	37	c.10412	CCDS14233.1	X																																																																																			DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.443	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0	39	0	A	NM_004006		31187701	-1	tier1		no_errors	ENST00000357033	ensembl	human	known	74_37	frame_shift_del	12.82	68	10	DEL	1.000	-	-	31187701	A	-	31187701	7	5	2	1	0	1	0	1	0	0	0	0	4594	372	13	0	755	0	DMD	23	31187701	Frame_Shift_Del	DEL	A	TCGA-2H-A9GG-01A-11D-A37C-09		31187701	124082859	220	641											
SATL1	340562	genome.wustl.edu	37	chrX	84363284	84363284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatgattggctagtgtctgGttgccttatgcctggttggc	5	15	13	8	0	1	1	0	1	1	0	1	1	1	1	2	4	2	3	2	4	2	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chrX:84363284G>T	ENST00000395409.3	-	1	690	c.130C>A	c.(130-132)Cca>Aca	p.P44T	SATL1_ENST00000509231.1_Missense_Mutation_p.P231T|SATL1_ENST00000332921.5_Missense_Mutation_p.P44T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	44	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTAGTGTCTGGTTGCCTTATG	0.507																																																	0													282	201	228					X																	84363284		2203	4300	6503	SO:0001583	missense	0			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.130C>A	X.37:g.84363284G>T	ENSP00000378804:p.Pro44Thr		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.P231T	ENST00000395409.3	37	c.691		X	.	.	.	.	.	.	.	.	.	.	-	7.167	0.586787	0.13749	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40225	1.04;1.04;1.04	2.8	-3.52	0.04682	.	1.615890	0.04341	N	0.354001	T	0.30727	0.0774	L	0.39898	1.24	0.09310	N	1	P;P	0.39094	0.528;0.659	B;B	0.44224	0.258;0.444	T	0.15407	-1.0438	10	0.07482	T	0.82	-4.9042	1.871	0.03208	0.1095:0.2918:0.3006:0.2981	.	44;231	Q86VE3;E9PB72	SATL1_HUMAN;.	T	44;44;231	ENSP00000378804:P44T;ENSP00000329115:P44T;ENSP00000425421:P231T	ENSP00000329115:P44T	P	-	1	0	SATL1	84249940	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.518000	0.06267	-1.118000	0.02961	0.436000	0.28706	CCA	SATL1	-	NULL	ENSG00000184788		0.507	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		-	0	44	0	G	XM_291339		84363284	-1	tier1	-	no_errors	ENST00000509231	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.001	T	T	84363284	G	T	84363284	3	4	2	1	0	0	0	0	1	0	0	0	13900	1261	44	3	1227	3	SATL1	23	84363284	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	53175583	84363284	70907276	221	642											
HTATSF1	27336	genome.wustl.edu	37	chrX	135585059	135585059	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcctcaaagaagaagaaGaagtgcaaagactataagaa	21	5	10	5	0	1	6	1	0	0	6	1	7	1	6	1	0	2	1	1	0	9	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chrX:135585059G>C	ENST00000218364.4	+	5	867	c.693G>C	c.(691-693)aaG>aaC	p.K231N	HTATSF1_ENST00000535601.1_Missense_Mutation_p.K231N	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	231	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGAAGAAGAAGAAGTGCAAAG	0.323																																																	0													98	102	101					X																	135585059		2203	4299	6502	SO:0001583	missense	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.693G>C	X.37:g.135585059G>C	ENSP00000218364:p.Lys231Asn		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K231N	ENST00000218364.4	37	c.693	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808286	0.50421	.	.	ENSG00000102241	ENST00000535601;ENST00000448450;ENST00000218364;ENST00000415377	T;T	0.26518	1.73;1.73	5.5	2.82	0.32997	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	M	0.64997	1.995	0.58432	D	0.999996	D	0.76494	0.999	D	0.67548	0.952	T	0.11108	-1.0601	10	0.49607	T	0.09	-14.4967	10.3388	0.43864	0.2189:0.0:0.7811:0.0	.	231	O43719	HTSF1_HUMAN	N	231	ENSP00000442699:K231N;ENSP00000218364:K231N	ENSP00000218364:K231N	K	+	3	2	HTATSF1	135412725	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.230000	0.58632	0.175000	0.19841	0.468000	0.43344	AAG	HTATSF1	-	NULL	ENSG00000102241		0.323	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	-	0	59	0	G	NM_014500		135585059	1	tier1	-	no_errors	ENST00000218364	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	C	C	135585059	G	C	135585059	3	2	2	1	0	0	0	0	1	0	0	0	7460	933	33	5	711	5	HTATSF1	23	135585059	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	51221775	135585059	19685501	222	643											
UBE2NL	389898	genome.wustl.edu	37	chrX	142967287	142967287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcaaagcagaaccagatGaaagcaacgcccgttatttt	15	8	8	10	2	1	3	1	1	0	2	1	3	1	3	2	0	4	4	2	0	5	3			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chrX:142967287G>A	ENST00000370494.1	+	1	115	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	29						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGAACCAGATGAAAGCAACGC	0.502																																																	0													81	79	80					X																	142967287		2203	4300	6503	SO:0001583	missense	0					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"Ubiquitin-conjugating enzymes E2"	31710	protein-coding gene	gene with protein product			"ubiquitin-conjugating enzyme E2N-like"			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.85G>A	X.37:g.142967287G>A	ENSP00000359525:p.Glu29Lys		E9KL27	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E29K	ENST00000370494.1	37	c.85	CCDS35420.1	X	.	.	.	.	.	.	.	.	.	.	G	8.377	0.836752	0.16891	.	.	ENSG00000102069	ENST00000370494	T	0.73469	-0.75	1.1	1.1	0.20463	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.44097	U	0.000500	T	0.69214	0.3086	M	0.64170	1.965	0.80722	D	1	B	0.18610	0.029	B	0.30572	0.117	T	0.67027	-0.5774	10	0.54805	T	0.06	0.8666	7.8005	0.29172	0.0:0.0:1.0:0.0	.	29	Q5JXB2	UE2NL_HUMAN	K	29	ENSP00000359525:E29K	ENSP00000359525:E29K	E	+	1	0	UBE2NL	142794953	1.000000	0.71417	0.317000	0.25265	0.005000	0.04900	6.641000	0.74324	0.849000	0.35215	0.190000	0.17370	GAA	UBE2NL	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000102069		0.502	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2NL	HGNC	protein_coding	OTTHUMT00000058624.1	-	0	38	0	G	NM_001012989		142967287	1	tier1	-	no_errors	ENST00000370494	ensembl	human	known	74_37	missense	45.00	22	18	SNP	1.000	A	A	142967287	G	A	142967287	3	1	2	1	0	0	0	0	1	0	0	0	16916	1291	45	3	87	3	UBE2NL	23	142967287	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	7382228	142967287	12303273	223	644											
MAGEA11	4110	genome.wustl.edu	37	chrX	148797718	148797718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggatgccatctttgggaGcctatctgatgagggctctg	7	12	13	9	0	3	2	0	2	3	0	3	4	3	4	2	3	2	1	2	3	1	2			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chrX:148797718G>T	ENST00000355220.5	+	5	674	c.572G>T	c.(571-573)aGc>aTc	p.S191I	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S162I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	191			S -> R (in dbSNP:rs2233049).			cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCTTTGGGAGCCTATCTGAT	0.547																																																	0													70	63	65					X																	148797718		2203	4300	6503	SO:0001583	missense	0				CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"MAGE-11 antigen", "melanoma-associated antigen 11", "cancer/testis antigen family 1, member 11"	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.572G>T	X.37:g.148797718G>T	ENSP00000347358:p.Ser191Ile		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S191I	ENST00000355220.5	37	c.572	CCDS48180.1	X	.	.	.	.	.	.	.	.	.	.	N	10.09	1.255208	0.22965	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.05580	3.42;3.42;3.42	0.871	-0.0826	0.13697	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.12860	0.0312	L	0.61036	1.89	0.09310	N	1	P;P	0.46859	0.866;0.885	P;P	0.53722	0.461;0.733	T	0.13737	-1.0498	8	0.72032	D	0.01	.	.	.	.	.	162;191	G5E962;P43364	.;MAGAB_HUMAN	I	162;162;191	ENSP00000391496:S162I;ENSP00000328177:S162I;ENSP00000347358:S191I	ENSP00000328177:S162I	S	+	2	0	MAGEA11	148576687	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.211000	0.09332	-0.102000	0.12197	-0.435000	0.05868	AGC	MAGEA11	-	pfam_Melanoma_ass_antigen_N	ENSG00000185247		0.547	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEA11	HGNC	protein_coding	OTTHUMT00000058725.4	-	0	32	0	G	NM_005366		148797718	1	tier1	-	no_errors	ENST00000355220	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.002	T	T	148797718	G	T	148797718	3	4	2	1	0	0	0	0	1	0	0	0	9201	971	34	3	599	3	MAGEA11	23	148797718	Missense_Mutation	SNP	G	TCGA-2H-A9GG-01A-11D-A37C-09	5830431	148797718	6472842	224	645											
ZNF185	7739	genome.wustl.edu	37	chrX	152087569	152087569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctacatcaggggacacCgaggaggaggaggaggagga	13	3	18	7	1	2	0	1	0	1	0	2	8	2	7	1	8	2	1	1	8	1	1			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chrX:152087569C>T	ENST00000370268.4	+	7	511	c.474C>T	c.(472-474)acC>acT	p.T158T	ZNF185_ENST00000535861.1_Silent_p.T158T|ZNF185_ENST00000324823.6_Silent_p.T23T|ZNF185_ENST00000318529.8_Silent_p.T23T|ZNF185_ENST00000539731.1_Silent_p.T158T|ZNF185_ENST00000318504.7_Silent_p.T158T|ZNF185_ENST00000370270.2_Silent_p.T158T|ZNF185_ENST00000449285.2_Silent_p.T158T			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	158						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGGACACCgaggaggagg	0.592													C|||	1	0.000264901	0	0	3775	,	,		13310	0.001		0	False		,,,				2504	0																0													55	53	54					X																	152087569		2032	4155	6187	SO:0001819	synonymous_variant	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.474C>T	X.37:g.152087569C>T			A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.T158	ENST00000370268.4	37	c.474	CCDS48184.1	X	.	.	.	.	.	.	.	.	.	.	C	6.682	0.494419	0.12702	.	.	ENSG00000147394	ENST00000426821	.	.	.	4.83	-6.96	0.01622	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.243	1.1914	0.01865	0.2175:0.35:0.2613:0.1711	.	.	.	.	X	9	.	.	R	+	1	2	ZNF185	151838225	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-2.463000	0.00996	-1.259000	0.02468	-0.395000	0.06472	CGA	ZNF185	-	NULL	ENSG00000147394		0.592	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	-	0	19	0	C	NM_007150		152087569	1	tier1	-	no_errors	ENST00000370270	ensembl	human	known	74_37	silent	64.71	5	11	SNP	0.000	T	T	152087569	C	T	152087569	2	4	2	1	0	0	0	0	0	0	0	1	17800	639	23	1		1	ZNF185	23	152087569	Silent	SNP	C	TCGA-2H-A9GG-01A-11D-A37C-09	3289851	152087569	3182991	225	646											
F8	2157	genome.wustl.edu	37	chrX	154227789	154227789	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcttagcgatgttgaaaAggtgatccgtgaattctaca	11	13	11	6	2	1	3	0	3	1	0	2	4	2	3	1	2	2	2	1	2	5	5			TCGA-2H-A9GG-01A-11D-A37C-09	TCGA-2H-A9GG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1e30cc78-6391-4fa7-9a12-e8811ec6b088	c2f3cff6-6730-4b99-9e89-aaead9912e18	g.chrX:154227789A>T	ENST00000360256.4	-	2	430	c.230T>A	c.(229-231)cTt>cAt	p.L77H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	77	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GATGTTGAAAAGGTGATCCGT	0.398																																																	0			GRCh37	CM053251	F8	M							169	150	156					X																	154227789		2203	4300	6503	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.230T>A	X.37:g.154227789A>T	ENSP00000353393:p.Leu77His		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L77H	ENST00000360256.4	37	c.230	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238163	0.22711	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.98937	-5.25;-5.25;-5.25	5.0	2.41	0.29592	Cupredoxin (2);	0.283910	0.33834	N	0.004519	D	0.97929	0.9319	L	0.50333	1.59	0.09310	N	1	B;D	0.89917	0.024;1.0	B;D	0.70487	0.009;0.969	D	0.93296	0.6672	10	0.31617	T	0.26	-7.0293	5.1093	0.14800	0.6339:0.1848:0.0:0.1813	.	42;77	B1B0G8;P00451	.;FA8_HUMAN	H	77;42;71	ENSP00000353393:L77H;ENSP00000409446:L42H;ENSP00000389153:L71H	ENSP00000353393:L77H	L	-	2	0	F8	153880983	0.999000	0.42202	0.951000	0.38953	0.631000	0.37964	1.329000	0.33770	0.563000	0.29222	0.235000	0.17854	CTT	F8	-	superfamily_Cupredoxin	ENSG00000185010		0.398	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-	0	50	0	A			154227789	-1	tier1	-	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.172	T	T	154227789	A	T	154227789	3	4	2	1	0	0	0	0	1	0	0	0	5366	72	3	5	6953	5	F8	23	154227789	Missense_Mutation	SNP	A	TCGA-2H-A9GG-01A-11D-A37C-09	2140220	154227789	1042771	226	647											
HSPB7	27129	genome.wustl.edu	37	chr1	16343677	16343677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggcgtctcctagggtcttGatgttgcctgccccaccggg	4	11	13	13	2	2	1	0	1	2	0	3	1	2	1	5	3	2	1	5	3	2	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:16343677G>C	ENST00000311890.9	-	2	1051	c.225C>G	c.(223-225)atC>atG	p.I75M	HSPB7_ENST00000411503.1_Missense_Mutation_p.I75M|HSPB7_ENST00000375718.4_Missense_Mutation_p.I150M|HSPB7_ENST00000487046.1_Missense_Mutation_p.I80M|HSPB7_ENST00000406363.2_Missense_Mutation_p.I79M	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	75					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGGGTCTTGATGTTGCCTG	0.602																																																	0													135	135	135					1																	16343677		2203	4300	6503	SO:0001583	missense	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.225C>G	1.37:g.16343677G>C	ENSP00000310111:p.Ile75Met		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.I80M	ENST00000311890.9	37	c.240	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653280	0.29425	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	5.23	4.32	0.51571	Heat shock protein Hsp20 (1);HSP20-like chaperone (1);	0.140633	0.47093	D	0.000243	D	0.95322	0.8482	M	0.86502	2.82	0.80722	D	1	P;P;P;D;D	0.71674	0.828;0.939;0.939;0.998;0.988	P;P;P;D;P	0.68483	0.639;0.622;0.622;0.958;0.855	D	0.94012	0.7285	10	0.39692	T	0.17	-25.5025	8.1819	0.31315	0.0847:0.2553:0.6599:0.0	.	150;101;101;163;75	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	M	75;75;150;168;34;80;79	ENSP00000391578:I75M;ENSP00000310111:I75M;ENSP00000364870:I150M;ENSP00000417966:I34M;ENSP00000419477:I80M;ENSP00000385472:I79M	ENSP00000310111:I75M	I	-	3	3	HSPB7	16216264	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	0.988000	0.29616	1.202000	0.43218	0.313000	0.20887	ATC	HSPB7	-	superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000173641		0.602	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	-	0	45	0	G	NM_014424		16343677	-1	tier1	-	no_errors	ENST00000487046	ensembl	human	known	74_37	missense	12.90	26	4	SNP	0.999	C	C	16343677	G	C	16343677	3	2	3	1	0	0	0	0	1	0	0	0	7449	1280	45	5	295	5	HSPB7	1	16343677	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		16343677	232906944	1	648											
ZNF436	80818	genome.wustl.edu	37	chr1	23689057	23689057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcataaggtttctcacccGtgtgggtcctctggtgctga	6	14	11	10	1	3	1	2	1	2	0	5	1	4	1	2	3	1	2	2	3	1	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:23689057G>A	ENST00000314011.4	-	4	954	c.818C>T	c.(817-819)aCg>aTg	p.T273M	ZNF436_ENST00000374608.3_Missense_Mutation_p.T273M	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTTCTCACCCGTGTGGGTCCT	0.532																																																	0													105	109	107					1																	23689057		2203	4300	6503	SO:0001583	missense	0			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.818C>T	1.37:g.23689057G>A	ENSP00000313582:p.Thr273Met		Q658I9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T273M	ENST00000314011.4	37	c.818	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471717	0.63737	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.26373	1.74;1.74;1.74	5.79	5.79	0.91817	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000011	T	0.53514	0.1801	M	0.74467	2.265	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.54503	-0.8284	10	0.87932	D	0	-19.2469	17.535	0.87827	0.0:0.0:1.0:0.0	.	273	Q9C0F3	ZN436_HUMAN	M	273	ENSP00000313582:T273M;ENSP00000363737:T273M;ENSP00000363736:T273M	ENSP00000313582:T273M	T	-	2	0	ZNF436	23561644	1.000000	0.71417	0.964000	0.40570	0.616000	0.37450	7.992000	0.88273	2.739000	0.93911	0.655000	0.94253	ACG	ZNF436	-	pfscan_Znf_C2H2	ENSG00000125945		0.532	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	-	0	40	0	G	NM_030634		23689057	-1	tier1	-	no_errors	ENST00000314011	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	A	A	23689057	G	A	23689057	3	1	3	1	0	0	0	0	1	0	0	0	17957	1145	40	1	598	1	ZNF436	1	23689057	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7345380	23689057	225561564	2	649											
HIVEP3	59269	genome.wustl.edu	37	chr1	42050347	42050347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcttgggtggcagctgtgCcgctgcctgggtatgggacg	3	11	17	10	2	1	0	0	0	1	0	2	1	1	1	2	4	3	4	2	4	1	2	rs150613288		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:42050347C>T	ENST00000372583.1	-	4	1007	c.122G>A	c.(121-123)gGc>gAc	p.G41D	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G41D|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G41D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G41D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	41					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGCAGCTGTGCCGCTGCCTGG	0.617																																																	0													90	107	101					1																	42050347		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.122G>A	1.37:g.42050347C>T	ENSP00000361664:p.Gly41Asp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G41D	ENST00000372583.1	37	c.122	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	2.733	-0.264044	0.05754	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06608	3.29;3.28;3.28;3.29	4.48	2.5	0.30297	.	1.426900	0.04335	N	0.353082	T	0.05318	0.0141	N	0.08118	0	0.09310	N	0.999999	B;B	0.25609	0.13;0.079	B;B	0.24701	0.055;0.051	T	0.47812	-0.9088	10	0.25751	T	0.34	-17.8939	14.1532	0.65401	0.0:0.6766:0.3234:0.0	.	41;41	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	41	ENSP00000361665:G41D;ENSP00000361664:G41D;ENSP00000247584:G41D;ENSP00000410828:G41D	ENSP00000247584:G41D	G	-	2	0	HIVEP3	41822934	0.033000	0.19621	0.004000	0.12327	0.115000	0.19883	0.038000	0.13862	0.549000	0.28973	0.514000	0.50259	GGC	HIVEP3	-	NULL	ENSG00000127124		0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	46	0	C	NM_024503		42050347	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.093	T	T	42050347	C	T	42050347	3	4	3	1	0	0	0	0	1	0	0	0	7215	739	26	3	7122	3	HIVEP3	1	42050347	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	18361290	42050347	207200274	3	650											
CYP4A22	284541	genome.wustl.edu	37	chr1	47610628	47610628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaccttccctgatgggcGctccttgcccaaaggtatga	7	10	10	14	2	1	2	1	2	0	0	3	2	3	2	4	2	1	2	4	2	2	3	rs375392496		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:47610628G>A	ENST00000371891.3	+	9	1239	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.R403H|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R305H|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	403						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGATGGGCGCTCCTTGCCC	0.572																																					Pancreas(88;1240 1470 2099 14214 37557)												0								G	HIS/ARG	0,4406		0,0,2203	99	88	92		1208	1.8	0.9	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP4A22	NM_001010969.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	403/520	47610628	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1208G>A	1.37:g.47610628G>A	ENSP00000360958:p.Arg403His		Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.R403H	ENST00000371891.3	37	c.1208	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.398655	0.42512	0.0	1.16E-4	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.68765	-0.35;-0.35;-0.35	1.83	1.83	0.25207	.	0.097903	0.64402	D	0.000002	T	0.58424	0.2121	L	0.33792	1.035	0.38310	D	0.943231	P;P	0.43231	0.801;0.624	P;B	0.47827	0.558;0.167	T	0.61768	-0.6995	10	0.59425	D	0.04	.	7.5674	0.27887	0.1399:0.0:0.8601:0.0	.	305;403	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	H	305;403;403	ENSP00000360957:R305H;ENSP00000360958:R403H;ENSP00000294337:R403H	ENSP00000294337:R403H	R	+	2	0	CYP4A22	47383215	0.677000	0.27577	0.894000	0.35097	0.382000	0.30200	3.223000	0.51231	1.024000	0.39682	0.194000	0.17425	CGC	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000162365		0.572	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	-	0	48	0	G	XM_208213		47610628	1	tier1	-	no_errors	ENST00000371891	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.844	A	A	47610628	G	A	47610628	3	1	3	1	0	0	0	0	1	0	0	0	4193	1087	38	1	1242	1	CYP4A22	1	47610628	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	5560281	47610628	201639993	4	651											
TTC39A	22996	genome.wustl.edu	37	chr1	51768201	51768201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtaccggttcaggtaggGcttcaagagcttctcggcct	7	10	14	10	2	3	1	2	0	1	1	4	1	3	1	2	5	2	5	2	5	3	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:51768201G>T	ENST00000447632.2	-	10	964	c.916C>A	c.(916-918)Ccc>Acc	p.P306T	TTC39A_ENST00000413473.2_Missense_Mutation_p.P274T|TTC39A_ENST00000371750.5_Missense_Mutation_p.P271T|TTC39A_ENST00000451380.1_Missense_Mutation_p.P270T|TTC39A_ENST00000262675.7_Missense_Mutation_p.P243T|TTC39A_ENST00000371747.3_Missense_Mutation_p.P305T|TTC39A_ENST00000262676.5_Missense_Mutation_p.P302T			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	306								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCAGGTAGGGCTTCAAGAGC	0.597																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											90	98	95					1																	51768201		2073	4193	6266	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.916C>A	1.37:g.51768201G>T	ENSP00000393952:p.Pro306Thr		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.P306T	ENST00000447632.2	37	c.916		1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338692	0.81911	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482	T;T;T;T;T;T;T;T;T	0.61859	0.75;0.75;0.75;0.75;0.75;0.07;0.98;0.98;0.98	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.71871	2.18	0.80722	D	1	B;B;D;D;D;B;D	0.89917	0.09;0.11;0.992;1.0;0.996;0.261;0.99	B;B;D;D;D;B;D	0.74348	0.124;0.196;0.938;0.983;0.978;0.292;0.947	T	0.67593	-0.5631	10	0.14656	T	0.56	-15.0694	18.1595	0.89704	0.0:0.0:1.0:0.0	.	274;270;243;302;270;306;271	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	T	306;274;243;270;271;305;302;243;270	ENSP00000393952:P306T;ENSP00000406144:P274T;ENSP00000262675:P243T;ENSP00000397207:P270T;ENSP00000360815:P271T;ENSP00000360812:P305T;ENSP00000262676:P302T;ENSP00000408532:P243T;ENSP00000405803:P270T	ENSP00000262675:P243T	P	-	1	0	TTC39A	51540789	1.000000	0.71417	0.993000	0.49108	0.759000	0.43091	9.164000	0.94755	2.606000	0.88127	0.655000	0.94253	CCC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.597	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2		0	67	0	G			51768201	-1			no_errors	ENST00000447632	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T	T	51768201	G	T	51768201	3	4	3	1	0	0	0	0	1	0	0	0	16756	1203	42	3	961	3	TTC39A	1	51768201	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	4157573	51768201	197482420	5	652											
USP24	23358	genome.wustl.edu	37	chr1	55569688	55569688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcggctattcgctgtaCtacacctagaaacaaaagac	15	8	6	12	2	0	2	0	0	0	2	2	2	0	2	2	1	3	3	2	1	8	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:55569688C>G	ENST00000294383.6	-	42	4885	c.4886G>C	c.(4885-4887)aGt>aCt	p.S1629T	USP24_ENST00000407756.1_Missense_Mutation_p.S1469T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1629					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATTCGCTGTACTACACCTAGA	0.333																																																	0													43	40	41					1																	55569688		1865	4094	5959	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4886G>C	1.37:g.55569688C>G	ENSP00000294383:p.Ser1629Thr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.S1469T	ENST00000294383.6	37	c.4406	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684279	0.47991	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02345	4.33;4.34	6.05	6.05	0.98169	.	0.084787	0.85682	N	0.000000	T	0.03915	0.0110	L	0.31926	0.97	0.40034	D	0.975569	B	0.15141	0.012	B	0.14023	0.01	T	0.54450	-0.8292	10	0.28530	T	0.3	.	18.7818	0.91937	0.0:1.0:0.0:0.0	.	1469	B7WPF4	.	T	1629;1469	ENSP00000294383:S1629T;ENSP00000385700:S1469T	ENSP00000294383:S1629T	S	-	2	0	USP24	55342276	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.682000	0.68182	2.878000	0.98634	0.650000	0.86243	AGT	USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.333	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2		0	18	0	C			55569688	-1			no_errors	ENST00000407756	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	G	G	55569688	C	G	55569688	3	3	3	1	0	0	0	0	1	0	0	0	17104	565	20	5	3084	5	USP24	1	55569688	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	3801487	55569688	193680933	6	653											
C1orf87	127795	genome.wustl.edu	37	chr1	60506694	60506694	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgcctctcaccatcTgttccaaggaccagtctcta	9	10	7	15	0	3	1	1	0	3	1	6	2	4	2	4	1	2	2	4	1	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:60506694T>A	ENST00000371201.3	-	4	559	c.452A>T	c.(451-453)cAg>cTg	p.Q151L	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	151			Q -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTCACCATCTGTTCCAAGGA	0.468																																					NSCLC(75;811 1386 4923 13371 51772)												0													148	133	138					1																	60506694		2203	4300	6503	SO:0001583	missense	0			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.452A>T	1.37:g.60506694T>A	ENSP00000360244:p.Gln151Leu		Q6ZU07|Q8IVS0	Missense_Mutation	SNP	NULL	p.Q151L	ENST00000371201.3	37	c.452	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594128	0.28445	.	.	ENSG00000162598	ENST00000371201	T	0.19250	2.16	5.02	1.28	0.21552	.	0.827837	0.10655	N	0.649426	T	0.16896	0.0406	L	0.47716	1.5	0.29857	N	0.827982	B	0.13145	0.007	B	0.15052	0.012	T	0.22906	-1.0203	10	0.42905	T	0.14	0.6689	4.5673	0.12193	0.2964:0.0826:0.0:0.621	.	151	Q8N0U7	CA087_HUMAN	L	151	ENSP00000360244:Q151L	ENSP00000360244:Q151L	Q	-	2	0	C1orf87	60279282	0.997000	0.39634	0.784000	0.31847	0.677000	0.39632	2.607000	0.46300	0.048000	0.15891	0.254000	0.18369	CAG	C1orf87	-	NULL	ENSG00000162598		0.468	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1		0	17	0	T	NM_152377		60506694	-1			no_errors	ENST00000371201	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.566	A	A	60506694	T	A	60506694	3	1	3	1	0	0	0	0	1	0	0	0	2071	1580	55	5	1224	5	C1orf87	1	60506694	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	4937006	60506694	188743927	7	654											
AK3L1	205	genome.wustl.edu	37	chr1	65690447	65690447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtattgatgacGtcactggtgaaccgttagtc	9	14	12	6	2	1	3	1	3	0	0	2	3	1	3	1	2	1	3	1	2	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:65690447G>A	ENST00000327299.7	+	4	656	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	AK4_ENST00000545314.1_Missense_Mutation_p.V151I|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000546702.1_Missense_Mutation_p.V99I|AK4_ENST00000395334.2_Missense_Mutation_p.V151I	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TATTGATGACGTCACTGGTGA	0.408																																																	0													138	133	135					1																	65690447		2203	4300	6503	SO:0001583	missense	0			AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"Adenylate kinases"	363	protein-coding gene	gene with protein product		103030	"adenylate kinase 3", "adenylate kinase 3-like 1"	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.451G>A	1.37:g.65690447G>A	ENSP00000322175:p.Val151Ile			Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.V151I	ENST00000327299.7	37	c.451	CCDS629.1	1	.	.	.	.	.	.	.	.	.	.	G	5.280	0.237135	0.10023	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.15	-9.24	0.00669	Adenylate kinase, active site lid domain (2);	0.527545	0.20670	N	0.087857	T	0.34716	0.0907	N	0.21583	0.68	0.31538	N	0.660328	B	0.02656	0.0	B	0.01281	0.0	T	0.03898	-1.0994	10	0.22109	T	0.4	-9.8744	12.3198	0.54979	0.2372:0.1721:0.5907:0.0	.	151	P27144	KAD4_HUMAN	I	151;99;151;151	ENSP00000445912:V151I;ENSP00000448458:V99I;ENSP00000378743:V151I;ENSP00000322175:V151I	ENSP00000322175:V151I	V	+	1	0	AK4	65463035	0.020000	0.18652	0.272000	0.24630	0.366000	0.29705	-0.209000	0.09358	-1.926000	0.01061	-0.219000	0.12488	GTC	AK4	-	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,tigrfam_Adenyl_kin_sub	ENSG00000162433		0.408	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK4	HGNC	protein_coding	OTTHUMT00000025040.2	-	0	64	0	G	NM_013410		65690447	1	tier1	-	no_errors	ENST00000327299	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.431	A	A	65690447	G	A	65690447	3	1	3	1	0	0	0	0	1	0	0	0	442	1145	40	1	465	1	AK3L1	1	65690447	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	5183753	65690447	183560174	8	655											
LEPR	3953	genome.wustl.edu	37	chr1	66102029	66102029	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaactgtggtctctctactTtcaacaacagatcttgaaaa	14	12	5	10	0	4	2	1	1	3	1	5	2	4	2	0	1	4	0	0	1	6	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:66102029T>A	ENST00000349533.6	+	20	3014	c.2829T>A	c.(2827-2829)ctT>ctA	p.L943L	LEPR_ENST00000406510.3_Silent_p.L10L	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCTCTCTACTTTCAACAACAG	0.398																																																	0													148	142	144					1																	66102029		2203	4300	6503	SO:0001819	synonymous_variant	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2829T>A	1.37:g.66102029T>A			Q6FHL5	Silent	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L943	ENST00000349533.6	37	c.2829	CCDS631.1	1																																																																																			LEPR	-	NULL	ENSG00000116678		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1		0	71	0	T	NM_002303		66102029	1			no_errors	ENST00000349533	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.000	A	A	66102029	T	A	66102029	2	1	3	1	0	0	0	0	0	0	0	1	8756	1828	64	5		5	LEPR	1	66102029	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	411582	66102029	183148592	9	656											
EPHX4	253152	genome.wustl.edu	37	chr1	92495767	92495767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaacttttgtggagcctcgGcaaggggccggcgcagacct	8	7	14	12	3	0	1	0	0	0	1	1	2	0	2	3	5	2	2	3	5	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:92495767G>A	ENST00000370383.4	+	1	229	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	44						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGAGCCTCGGCAAGGGGCCG	0.677																																					GBM(140;473 1857 5172 22066 49719)												0													20	17	18					1																	92495767		2202	4299	6501	SO:0001583	missense	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.131G>A	1.37:g.92495767G>A	ENSP00000359410:p.Gly44Asp		Q8NCC6	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.G44D	ENST00000370383.4	37	c.131	CCDS736.1	1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.703280	0.30232	.	.	ENSG00000172031	ENST00000370383	T	0.59364	0.27	3.63	3.63	0.41609	.	0.523471	0.20597	N	0.089235	T	0.31389	0.0795	L	0.44542	1.39	0.34346	D	0.689347	B	0.16396	0.017	B	0.21360	0.034	T	0.20207	-1.0282	10	0.35671	T	0.21	.	10.4819	0.44698	0.0:0.0:0.8054:0.1946	.	44	Q8IUS5	EPHX4_HUMAN	D	44	ENSP00000359410:G44D	ENSP00000359410:G44D	G	+	2	0	EPHX4	92268355	1.000000	0.71417	0.986000	0.45419	0.816000	0.46133	4.534000	0.60622	1.826000	0.53198	0.313000	0.20887	GGC	EPHX4	-	NULL	ENSG00000172031		0.677	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1		0	68	0	G	NM_173567		92495767	1			no_errors	ENST00000370383	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.981	A	A	92495767	G	A	92495767	3	1	3	1	0	0	0	0	1	0	0	0	5198	1203	42	3	133	3	EPHX4	1	92495767	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	26393738	92495767	156754854	10	657											
CCDC76	54482	genome.wustl.edu	37	chr1	100606486	100606486	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgagtttggagcgggaaagGgaaaattatctcattgggtt	11	13	14	3	1	1	1	1	1	1	0	2	4	1	4	0	4	1	2	0	4	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:100606486G>T	ENST00000370141.2	+	7	586	c.580G>T	c.(580-582)Gga>Tga	p.G194*		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	194					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.G194R(1)									AGCGGGAAAGGGAAAATTATC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											132	127	129					1																	100606486		2203	4300	6503	SO:0001587	stop_gained	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.580G>T	1.37:g.100606486G>T	ENSP00000359160:p.Gly194*		Q5VVL0|Q9NW65	Nonsense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.G194*	ENST00000370141.2	37	c.580	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486804	0.84854	.	.	ENSG00000122435	ENST00000370141	.	.	.	5.62	5.62	0.85841	.	0.047815	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.352	19.6541	0.95830	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000359160:G194X	G	+	1	0	CCDC76	100379074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.638000	0.89438	0.563000	0.77884	GGA	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.358	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1		0	57	0	G	NM_019083		100606486	1			no_errors	ENST00000370141	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	100606486	G	T	100606486	4	4	3	1	0	0	0	0	0	1	0	0	2857	1233	43	3	606	3	CCDC76	1	100606486	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	8110719	100606486	148644135	11	658											
FLG	2312	genome.wustl.edu	37	chr1	152280800	152280800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgtttttctgcttgcacTtctggatcctgactgcccac	6	16	7	12	0	2	1	0	1	2	0	3	2	3	2	2	1	3	3	2	1	1	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:152280800T>C	ENST00000368799.1	-	3	6597	c.6562A>G	c.(6562-6564)Agt>Ggt	p.S2188G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2188	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.532									Ichthyosis																																								0													469	398	422					1																	152280800		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6562A>G	1.37:g.152280800T>C	ENSP00000357789:p.Ser2188Gly		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S2188G	ENST00000368799.1	37	c.6562	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	t	5.857	0.342342	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.03689	3.84	2.62	-0.852	0.10713	.	.	.	.	.	T	0.01287	0.0042	M	0.73962	2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46247	-0.9205	9	0.20519	T	0.43	.	1.7917	0.03053	0.2907:0.4033:0.0:0.306	.	2188	P20930	FILA_HUMAN	G	2188	ENSP00000357789:S2188G	ENSP00000357789:S2188G	S	-	1	0	FLG	150547424	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.177000	0.09796	0.161000	0.19458	0.397000	0.26171	AGT	FLG	-	NULL	ENSG00000143631		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	145	0	T	NM_002016		152280800	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	27.52	77	30	SNP	0.000	C	C	152280800	T	C	152280800	3	2	3	1	0	0	0	0	1	0	0	0	5944	1609	56	4	5627	4	FLG	1	152280800	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	51674314	152280800	96969821	12	659											
FCRL5	83416	genome.wustl.edu	37	chr1	157514222	157514222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgaagaagcggaacCggagcgggacatctgacctc	11	6	12	12	3	2	3	0	2	2	1	4	6	2	6	2	3	3	0	2	3	3	0	rs138632023		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:157514222C>T	ENST00000361835.3	-	5	831	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_ENST00000356953.4_Missense_Mutation_p.R225Q|FCRL5_ENST00000368190.3_Missense_Mutation_p.R225Q|FCRL5_ENST00000368191.3_Missense_Mutation_p.R140Q|FCRL5_ENST00000368189.3_Missense_Mutation_p.R225Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	225	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGCGGAACCGGAGCGGGAC	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		19554	0		0	False		,,,				2504	0																0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	106	112	110		674,674	-3.4	0	1	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FCRL5	NM_001195388.1,NM_031281.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	225/999,225/978	157514222	1,13005	2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.674G>A	1.37:g.157514222C>T	ENSP00000354691:p.Arg225Gln		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R225Q	ENST00000361835.3	37	c.674	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598003	0.03771	0.0	1.16E-4	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.11	-3.42	0.04825	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.411730	0.01206	N	0.007709	T	0.00524	0.0017	N	0.00471	-1.455	0.09310	N	0.999999	B;B;B;B;B	0.17667	0.02;0.018;0.022;0.023;0.022	B;B;B;B;B	0.11329	0.003;0.002;0.006;0.003;0.006	T	0.38802	-0.9644	10	0.02654	T	1	.	3.2017	0.06652	0.2813:0.2646:0.0:0.4541	.	140;225;225;225;225	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	Q	225;225;225;140;225	ENSP00000354691:R225Q;ENSP00000349434:R225Q;ENSP00000357173:R225Q;ENSP00000357174:R140Q;ENSP00000357172:R225Q	ENSP00000349434:R225Q	R	-	2	0	FCRL5	155780846	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	-0.450000	0.06803	-0.872000	0.04037	-0.624000	0.04008	CGG	FCRL5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143297		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0	44	0	C	NM_031281		157514222	-1	tier1	rs138632023	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	41.94	36	26	SNP	0.072	T	T	157514222	C	T	157514222	3	4	3	1	0	0	0	0	1	0	0	0	5820	652	23	1	2311	1	FCRL5	1	157514222	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5233422	157514222	91736399	13	660											
OR10X1	128367	genome.wustl.edu	37	chr1	158549447	158549447	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctcagagaaggagagTgcactaaggaagagatacat	16	6	13	6	0	1	3	1	0	1	3	2	7	1	4	0	3	2	1	0	3	4	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:158549447T>G	ENST00000368150.1	-	1	242	c.243A>C	c.(241-243)gcA>gcC	p.A81A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	81			A -> S (in dbSNP:rs950164).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAAGGAGAGTGCACTAAGGA	0.498																																																	0													121	113	116					1																	158549447		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.243A>C	1.37:g.158549447T>G			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A81	ENST00000368150.1	37	c.243	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186400		0.498	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0	47	0	T	NM_001004477		158549447	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	42.62	35	26	SNP	0.988	G	G	158549447	T	G	158549447	2	3	3	1	0	0	0	0	0	0	0	1	10961	1683	59	4		4	OR10X1	1	158549447	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	1035225	158549447	90701174	14	661											
ADCY10	55811	genome.wustl.edu	37	chr1	167815044	167815044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatcgaatcctgtggcactCgatcacctcattctccagtt	9	12	7	13	2	3	0	2	0	1	0	7	3	4	0	3	1	0	2	3	1	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:167815044C>T	ENST00000367851.4	-	21	2948	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	ADCY10_ENST00000367848.1_Missense_Mutation_p.E830K|ADCY10_ENST00000545172.1_Missense_Mutation_p.E769K	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	922					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTGTGGCACTCGATCACCTCA	0.512																																																	0													114	103	107					1																	167815044		2203	4300	6503	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2764G>A	1.37:g.167815044C>T	ENSP00000356825:p.Glu922Lys		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.E922K	ENST00000367851.4	37	c.2764	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	5.305	0.241628	0.10077	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.29655	1.56;1.56;1.56	5.96	0.185	0.15096	.	0.308537	0.28021	N	0.016912	T	0.07548	0.0190	L	0.31294	0.92	0.32029	N	0.599757	B;B;B	0.27971	0.196;0.196;0.07	B;B;B	0.15052	0.012;0.012;0.005	T	0.22068	-1.0227	9	0.27785	T	0.31	-10.9562	11.6569	0.51324	0.0:0.4322:0.4932:0.0746	.	769;830;922	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	K	769;922;830	ENSP00000441992:E769K;ENSP00000356825:E922K;ENSP00000356822:E830K	ENSP00000356822:E830K	E	-	1	0	ADCY10	166081668	0.118000	0.22208	0.210000	0.23637	0.008000	0.06430	0.228000	0.17814	0.105000	0.17753	-0.137000	0.14449	GAG	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.512	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0	22	0	C	NM_018417		167815044	-1	tier1	-	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.035	T	T	167815044	C	T	167815044	3	4	3	1	0	0	0	0	1	0	0	0	293	893	31	1	2120	1	ADCY10	1	167815044	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	9265597	167815044	81435577	15	662											
LAMC1	3915	genome.wustl.edu	37	chr1	183087275	183087275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacgtgggacatacagtGagagaagtaagttatgatat	16	10	12	3	1	0	4	0	2	0	2	0	6	0	5	0	1	2	2	0	1	6	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:183087275G>T	ENST00000258341.4	+	11	2241	c.1984G>T	c.(1984-1986)Gag>Tag	p.E662*		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	662	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GACATACAGTGAGAGAAGTAA	0.348																																																	0													85	90	88					1																	183087275		2203	4300	6503	SO:0001587	stop_gained	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1984G>T	1.37:g.183087275G>T	ENSP00000258341:p.Glu662*		Q5VYE7	Nonsense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E662*	ENST00000258341.4	37	c.1984	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	41	9.141579	0.99078	.	.	ENSG00000135862	ENST00000258341	.	.	.	5.0	5.0	0.66597	.	0.051313	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	18.3307	0.90268	0.0:0.0:1.0:0.0	.	.	.	.	X	662	.	ENSP00000258341:E662X	E	+	1	0	LAMC1	181353898	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	7.204000	0.77872	2.317000	0.78254	0.650000	0.86243	GAG	LAMC1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000135862		0.348	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	-	0	67	0	G	NM_002293		183087275	1	tier1	-	no_errors	ENST00000258341	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T	T	183087275	G	T	183087275	4	4	3	1	0	0	0	0	0	1	0	0	8642	1291	45	3	2026	3	LAMC1	1	183087275	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	15272231	183087275	66163346	16	663											
HMCN1	83872	genome.wustl.edu	37	chr1	186151369	186151369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctttggaagttatcagtGcatctgcccacctggctatc	8	13	8	12	0	2	0	1	0	1	0	3	1	2	1	3	2	3	3	3	2	4	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:186151369G>A	ENST00000271588.4	+	105	16593	c.16364G>A	c.(16363-16365)tGc>tAc	p.C5455Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5338Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5455	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.C5455Y(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTTATCAGTGCATCTGCCCA	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											140	131	134					1																	186151369		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16364G>A	1.37:g.186151369G>A	ENSP00000271588:p.Cys5455Tyr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.C5455Y	ENST00000271588.4	37	c.16364	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629812	0.87660	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.99999	-13.64;-13.64;-13.64	5.42	5.42	0.78866	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99999	1.0000	H	0.99444	4.57	0.80722	D	1	D	0.67145	0.996	D	0.83275	0.996	D	0.99998	1.6824	10	0.87932	D	0	.	19.2127	0.93763	0.0:0.0:1.0:0.0	.	5455	Q96RW7	HMCN1_HUMAN	Y	5455;5338;130	ENSP00000271588:C5455Y;ENSP00000356462:C5338Y;ENSP00000406205:C130Y	ENSP00000271588:C5455Y	C	+	2	0	HMCN1	184417992	1.000000	0.71417	0.946000	0.38457	0.981000	0.71138	9.562000	0.98145	2.528000	0.85240	0.563000	0.77884	TGC	HMCN1	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	36	0	G	NM_031935		186151369	1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	186151369	G	A	186151369	3	1	3	1	0	0	0	0	1	0	0	0	7247	1319	46	3	16782	3	HMCN1	1	186151369	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	3064094	186151369	63099252	17	664											
CFH	3075	genome.wustl.edu	37	chr1	196659305	196659305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggctacgctcttccaaaAgcgcagaccacagttacatg	11	8	8	14	2	1	1	0	0	1	1	2	1	2	1	3	1	3	4	3	1	4	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:196659305A>G	ENST00000359637.2	+	8	1142	c.1080A>G	c.(1078-1080)aaA>aaG	p.K360K	CFH_ENST00000439155.2_Silent_p.K424K|CFH_ENST00000367429.4_Silent_p.K424K			P08603	CFAH_HUMAN	complement factor H	424	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTCTTCCAAAAGCGCAGACCA	0.428																																																	0													107	90	96					1																	196659305		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1080A>G	1.37:g.196659305A>G			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K424	ENST00000359637.2	37	c.1272		1																																																																																			CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.428	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	-	0	69	0	A	NM_000186		196659305	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	silent	58.14	18	25	SNP	0.002	G	G	196659305	A	G	196659305	2	3	3	1	0	0	0	0	0	0	0	1	3290	69	3	4		4	CFH	1	196659305	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	10507936	196659305	52591316	18	665											
USH2A	7399	genome.wustl.edu	37	chr1	216373262	216373262	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggaccagattgatttGagagtgttgtccaggtaagt	10	13	13	5	0	0	3	0	2	0	2	1	5	1	4	2	2	0	2	2	2	2	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:216373262G>T	ENST00000307340.3	-	17	3904	c.3518C>A	c.(3517-3519)tCa>tAa	p.S1173*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.S1173*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.S1173*|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATTGATTTGAGAGTGTTGT	0.448										HNSCC(13;0.011)																																							0													109	112	111					1																	216373262		2203	4300	6503	SO:0001587	stop_gained	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3518C>A	1.37:g.216373262G>T	ENSP00000305941:p.Ser1173*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1173*	ENST00000307340.3	37	c.3518	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.966764	0.99496	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	6.02	4.93	0.64822	.	0.200050	0.24417	N	0.038719	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1759	0.81851	0.0734:0.0:0.9266:0.0	.	.	.	.	X	1173	.	ENSP00000305941:S1173X	S	-	2	0	USH2A	214439885	0.863000	0.29885	0.534000	0.28014	0.713000	0.41058	3.117000	0.50407	2.865000	0.98341	0.655000	0.94253	TCA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	44	0	G	NM_007123		216373262	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.818	T	T	216373262	G	T	216373262	4	4	3	1	0	0	0	0	0	1	0	0	17085	1294	45	3	12328	3	USH2A	1	216373262	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	19713957	216373262	32877359	19	666											
URB2	9816	genome.wustl.edu	37	chr1	229771578	229771578	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcacaagcacccataccGgcctggttccgctgtctgaa	9	8	9	15	2	1	1	0	1	1	0	2	1	2	1	4	2	3	4	4	2	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:229771578G>A	ENST00000258243.2	+	4	1354	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	406						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACCCATACCGGCCTGGTTCC	0.537																																																	0													67	70	69					1																	229771578		2203	4300	6503	SO:0001819	synonymous_variant	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1218G>A	1.37:g.229771578G>A			Q5VYC9	Silent	SNP	pfam_Urb2/Npa2_C	p.P406	ENST00000258243.2	37	c.1218	CCDS31052.1	1																																																																																			URB2	-	NULL	ENSG00000135763		0.537	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	-	0	30	0	G	NM_014777		229771578	1	tier1	-	no_errors	ENST00000258243	ensembl	human	known	74_37	silent	28.57	25	10	SNP	0.016	A	A	229771578	G	A	229771578	2	1	3	1	0	0	0	0	0	0	0	1	17074	1103	39	1		1	URB2	1	229771578	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	13398316	229771578	19479043	20	667											
KCNK1	3775	genome.wustl.edu	37	chr1	233749941	233749941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagtccctggccggcagCtcgtgcgtgcgcctggtgga	3	8	16	14	4	0	0	0	0	0	0	2	1	1	1	3	4	4	3	3	4	0	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:233749941C>T	ENST00000366621.3	+	1	192	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	8					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	TGGCCGGCAGCTCGTGCGTGC	0.721																																																	0													23	22	22					1																	233749941		2198	4297	6495	SO:0001819	synonymous_variant	0			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.24C>T	1.37:g.233749941C>T			Q13307|Q5T5E8	Silent	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.S8	ENST00000366621.3	37	c.24	CCDS1599.1	1																																																																																			KCNK1	-	pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1	ENSG00000135750		0.721	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1		0	15	0	C	NM_002245		233749941	1			no_errors	ENST00000366621	ensembl	human	known	74_37	silent	26.92	18	7	SNP	1.000	T	T	233749941	C	T	233749941	2	4	3	1	0	0	0	0	0	0	0	1	8085	796	28	3		3	KCNK1	1	233749941	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	3978363	233749941	15500680	21	668											
CNST	163882	genome.wustl.edu	37	chr1	246810502	246810502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacatacagtggagcccctGgggagcagtccctgctgtca	9	7	12	13	0	1	0	1	0	0	0	2	2	2	2	3	3	5	2	3	3	2	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr1:246810502G>A	ENST00000366513.4	+	9	1268	c.999G>A	c.(997-999)ctG>ctA	p.L333L	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.L333L	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	333					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TGGAGCCCCTGGGGAGCAGTC	0.463											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	82	80					1																	246810502		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26486	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 64"	613439	"chromosome 1 open reading frame 71"	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.999G>A	1.37:g.246810502G>A		2468	Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	NULL	p.L333	ENST00000366513.4	37	c.999	CCDS1628.1	1																																																																																			CNST	-	NULL	ENSG00000162852		0.463	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	-	0	55	0	G	NM_152609		246810502	1	tier1	-	no_errors	ENST00000366513	ensembl	human	known	74_37	silent	46.94	25	23	SNP	0.001	A	A	246810502	G	A	246810502	2	1	3	1	0	0	0	0	0	0	0	1	3641	1335	47	3		3	CNST	1	246810502	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	13060561	246810502	2440119	22	669											
DNMT3A	1788	genome.wustl.edu	37	chr2	25463510	25463510	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacaggatggtacctaccGtagaggcccttgcgagcagg	9	6	16	10	2	0	1	0	0	0	1	0	4	0	3	3	5	4	3	3	5	3	4	rs559412770		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:25463510G>A	ENST00000264709.3	-	18	2509	c.2172C>T	c.(2170-2172)taC>taT	p.Y724Y	DNMT3A_ENST00000380746.4_Splice_Site_p.Y535Y|DNMT3A_ENST00000321117.5_Splice_Site_p.Y724Y|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Splice_Site_p.Y501Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	724	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTACCTACCGTAGAGGCCCT	0.577			"Mis, F, N, S"		AML								G|||	1	0.000199681	0	0.0014	5008	,	,		19878	0		0	False		,,,				2504	0							Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													136	113	121					2																	25463510		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2173+1C>T	2.37:g.25463510G>A			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.Y724	ENST00000264709.3	37	c.2172	CCDS33157.1	2																																																																																			DNMT3A	-	pfam_C5_MeTfrase	ENSG00000119772		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	-	0	62	0	G	NM_022552	Silent	25463510	-1	tier1	-	no_errors	ENST00000264709	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.776	A	A	25463510	G	A	25463510	5	1	3	1	0	0	0	0	0	0	1	0	4690	1159	40	1	590	1	DNMT3A	2	25463510	Splice_Site	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		25463510	217735863	23	670											
MTA3	57504	genome.wustl.edu	37	chr2	42909546	42909546	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgtttctttagtttcaCgctatggatacattgtatag	9	20	7	5	1	2	0	1	0	1	0	2	1	2	1	0	1	1	4	0	1	5	11	rs187836014	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:42909546C>G	ENST00000405094.1	+	9	708	c.708C>G	c.(706-708)caC>caG	p.H236Q	MTA3_ENST00000406652.1_Missense_Mutation_p.H180Q|MTA3_ENST00000407270.3_Missense_Mutation_p.H236Q|MTA3_ENST00000406911.1_Missense_Mutation_p.H236Q|MTA3_ENST00000405592.1_Missense_Mutation_p.H180Q			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	236	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.					intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						TTTAGTTTCACGCTATGGATA	0.338																																																	0													88	83	85					2																	42909546		1874	4094	5968	SO:0001583	missense	0			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.708C>G	2.37:g.42909546C>G	ENSP00000385823:p.His236Gln		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.H236Q	ENST00000405094.1	37	c.708		2	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836742	0.50951	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.48522	0.81;0.81;0.83;0.83;0.82	5.14	-1.48E-4	0.14039	.	0.052996	0.85682	D	0.000000	T	0.60366	0.2263	M	0.73962	2.25	0.50813	D	0.999893	P;P;D	0.56521	0.611;0.73;0.976	B;B;P	0.60789	0.241;0.421;0.879	T	0.61598	-0.7030	10	0.62326	D	0.03	-8.8256	10.9483	0.47315	0.0:0.2703:0.0:0.7297	.	236;236;180	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	Q	180;180;236;236;236;236	ENSP00000383973:H180Q;ENSP00000384249:H180Q;ENSP00000385045:H236Q;ENSP00000385241:H236Q;ENSP00000385823:H236Q	ENSP00000282366:H236Q	H	+	3	2	MTA3	42763050	0.996000	0.38824	0.997000	0.53966	0.952000	0.60782	0.309000	0.19332	-0.104000	0.12154	-1.405000	0.01134	CAC	MTA3	-	pfscan_ELM2_dom	ENSG00000057935		0.338	MTA3-017	KNOWN	basic	protein_coding	MTA3	HGNC	protein_coding	OTTHUMT00000318159.1	-	0	49	0	C	NM_020744		42909546	1	tier1	-	no_errors	ENST00000405094	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	G	G	42909546	C	G	42909546	3	3	3	1	0	0	0	0	1	0	0	0	9948	535	19	5	742	5	MTA3	2	42909546	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	17446036	42909546	200289827	24	671											
STON1	11037	genome.wustl.edu	37	chr2	48809570	48809570	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagctaaaatgaaccgcCgagcatgtctggggagttta	13	9	12	7	2	1	2	0	2	1	0	1	4	1	3	2	2	3	3	2	2	5	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:48809570C>T	ENST00000406226.1	+	3	1993	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	STON1_ENST00000309835.3_Nonsense_Mutation_p.R600*|STON1_ENST00000404752.1_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.R600*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.R600*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	600	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATGAACCGCCGAGCATGTCT	0.483																																																	0													68	70	69					2																	48809570		2203	4300	6503	SO:0001587	stop_gained	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1798C>T	2.37:g.48809570C>T	ENSP00000384615:p.Arg600*		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.R600*	ENST00000406226.1	37	c.1798	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.646426	0.97730	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.65	2.61	0.31194	.	0.192185	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	15.421	0.75011	0.7349:0.2651:0.0:0.0	.	.	.	.	X	600	.	ENSP00000310969:R600X	R	+	1	2	STON1-GTF2A1L;STON1	48663074	1.000000	0.71417	0.822000	0.32727	0.712000	0.41017	2.948000	0.49066	0.328000	0.23435	0.655000	0.94253	CGA	STON1-GTF2A1L	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000068781		0.483	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	-	0	60	0	C	NM_006873		48809570	1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	nonsense	51.16	21	22	SNP	0.998	T	T	48809570	C	T	48809570	4	4	3	1	0	0	0	0	0	1	0	0	15363	644	23	1	1800	1	STON1	2	48809570	Nonsense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5900024	48809570	194389803	25	672											
VRK2	7444	genome.wustl.edu	37	chr2	58275980	58275980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgatgccaccaaaaaGaaatgaaaaatacaaacttc	22	6	6	7	0	0	4	0	2	0	2	1	4	0	4	2	0	3	0	2	0	8	2	rs149155455		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:58275980G>T	ENST00000435505.2	+	5	759	c.14G>T	c.(13-15)aGa>aTa	p.R5I	VRK2_ENST00000340157.4_Missense_Mutation_p.R5I|VRK2_ENST00000412104.2_Missense_Mutation_p.R5I|VRK2_ENST00000440705.2_Intron|VRK2_ENST00000417641.2_Missense_Mutation_p.R5I			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	5					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CCACCAAAAAGAAATGAAAAA	0.388																																																	0													68	72	70					2																	58275980		2202	4300	6502	SO:0001583	missense	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.14G>T	2.37:g.58275980G>T	ENSP00000408002:p.Arg5Ile		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R5I	ENST00000435505.2	37	c.14	CCDS1859.1	2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574884	0.65878	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000428021	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.96	1.77	0.24775	.	0.358133	0.29002	N	0.013443	T	0.48095	0.1481	L	0.48642	1.525	0.40587	D	0.981456	P;P;D	0.54047	0.874;0.941;0.964	P;P;P	0.51806	0.667;0.648;0.68	T	0.48502	-0.9030	10	0.72032	D	0.01	-13.2121	9.4853	0.38926	0.3876:0.0:0.6124:0.0	.	5;5;5	Q86Y07-2;Q86Y07-5;Q86Y07	.;.;VRK2_HUMAN	I	5;5;5;5;5;5;10	ENSP00000408002:R5I;ENSP00000402375:R5I;ENSP00000404156:R5I;ENSP00000342381:R5I;ENSP00000404961:R10I	ENSP00000342381:R5I	R	+	2	0	VRK2	58129484	0.879000	0.30193	0.996000	0.52242	0.997000	0.91878	0.628000	0.24522	0.291000	0.22468	0.655000	0.94253	AGA	VRK2	-	NULL	ENSG00000028116		0.388	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2		0	31	0	G	NM_006296		58275980	1			no_errors	ENST00000340157	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.692	T	T	58275980	G	T	58275980	3	4	3	1	0	0	0	0	1	0	0	0	17269	942	33	3	16	3	VRK2	2	58275980	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	9466410	58275980	184923393	26	673											
NAGK	55577	genome.wustl.edu	37	chr2	71302688	71302688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccctttctcctctcaggtgCcagatcggctagggatactc	6	11	10	14	1	2	1	1	0	2	1	6	2	2	2	3	3	2	1	3	3	2	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:71302688C>T	ENST00000244204.6	+	7	645	c.583C>T	c.(583-585)Cca>Tca	p.P195S	NAGK_ENST00000443872.2_Missense_Mutation_p.P47S|NAGK_ENST00000455662.2_Missense_Mutation_p.P241S|NAGK_ENST00000443938.2_Missense_Mutation_p.P195S|NAGK_ENST00000418807.3_Missense_Mutation_p.P144S			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	195					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTCTCAGGTGCCAGATCGGCT	0.493																																																	0													85	80	82					2																	71302688		2203	4300	6503	SO:0001583	missense	0			AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.583C>T	2.37:g.71302688C>T	ENSP00000244204:p.Pro195Ser		B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	pfam_ATPase_BadF	p.P144S	ENST00000244204.6	37	c.430		2	.	.	.	.	.	.	.	.	.	.	C	7.362	0.624950	0.14257	.	.	ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000531934;ENST00000418807;ENST00000529236	T;T;T	0.41400	1.58;1.55;1.0	5.35	3.42	0.39159	ATPase, BadF/BadG/BcrA/BcrD type (1);	0.066216	0.64402	D	0.000006	T	0.06917	0.0176	N	0.00092	-2.175	0.33988	D	0.648736	B	0.06786	0.001	B	0.04013	0.001	T	0.38045	-0.9679	10	0.07813	T	0.8	-10.9501	3.9615	0.09413	0.204:0.6226:0.0:0.1734	.	195	Q9UJ70	NAGK_HUMAN	S	195;241;47;144;89	ENSP00000244204:P195S;ENSP00000389087:P241S;ENSP00000396070:P144S	ENSP00000244204:P195S	P	+	1	0	NAGK	71156196	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.116000	0.31221	2.668000	0.90789	0.655000	0.94253	CCA	NAGK	-	pfam_ATPase_BadF	ENSG00000124357		0.493	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	NAGK	HGNC	protein_coding	OTTHUMT00000471889.1	-	0	74	0	C			71302688	1	tier1	-	no_errors	ENST00000418807	ensembl	human	putative	74_37	missense	7.02	52	4	SNP	1.000	T	T	71302688	C	T	71302688	3	4	3	1	0	0	0	0	1	0	0	0	10180	739	26	3	747	3	NAGK	2	71302688	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	13026708	71302688	171896685	27	674											
ALMS1	7840	genome.wustl.edu	37	chr2	73646442	73646442	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctcttctgttctccactGctaggtaatgcctgtttatt	6	18	7	10	0	3	0	0	0	3	0	5	1	3	0	2	1	2	4	2	1	3	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:73646442G>T	ENST00000264448.6	+	3	753	c.642G>T	c.(640-642)ctG>ctT	p.L214L	ALMS1_ENST00000409009.1_Silent_p.L172L|ALMS1_ENST00000377715.1_Silent_p.L214L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	214					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.L214L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTTCTCCACTGCTAGGTAATG	0.413																																																	1	Substitution - coding silent(1)	ovary(1)											125	122	123					2																	73646442		1836	4095	5931	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.642G>T	2.37:g.73646442G>T			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.L214	ENST00000264448.6	37	c.642	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.413	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1		0	24	0	G	NM_015120		73646442	1			no_errors	ENST00000264448	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	73646442	G	T	73646442	2	4	3	1	0	0	0	0	0	0	0	1	535	1306	46	3		3	ALMS1	2	73646442	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2343754	73646442	169552931	28	675											
DNAH6	1768	genome.wustl.edu	37	chr2	84897535	84897535	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaatttttctgctcaaacTtcatctgcaaggacacaaga	14	12	5	10	0	4	1	2	0	2	1	4	2	4	2	0	1	3	2	0	1	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:84897535T>C	ENST00000237449.6	+	38	6398	c.6390T>C	c.(6388-6390)acT>acC	p.T2130T	DNAH6_ENST00000602588.1_Silent_p.T151T|DNAH6_ENST00000389394.3_Silent_p.T2130T|DNAH6_ENST00000398278.2_Silent_p.T2130T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2130	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTGCTCAAACTTCATCTGCAA	0.308																																																	0													91	83	86					2																	84897535		692	1588	2280	SO:0001819	synonymous_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.6390T>C	2.37:g.84897535T>C			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T2130	ENST00000237449.6	37	c.6390	CCDS46348.1	2																																																																																			DNAH6	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000115423		0.308	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	36	0	T	NM_001370		84897535	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.945	C	C	84897535	T	C	84897535	2	2	3	1	0	0	0	0	0	0	0	1	4619	1596	56	4		4	DNAH6	2	84897535	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	11251093	84897535	158301838	29	676											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125285014	125285014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgatttacacattgatCtgtgtagcatcaaagacagg	13	13	9	6	0	2	3	1	2	1	1	2	3	2	3	0	1	2	2	0	1	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:125285014C>A	ENST00000431078.1	+	10	1991	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	543	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACACATTGATCTGTGTAGCAT	0.413																																																	0													137	134	135					2																	125285014		1887	4103	5990	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1627C>A	2.37:g.125285014C>A	ENSP00000399013:p.Leu543Met		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L543M	ENST00000431078.1	37	c.1627	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284873	0.23392	.	.	ENSG00000155052	ENST00000431078	D	0.87650	-2.28	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.35067	N	0.003463	D	0.86830	0.6027	N	0.20685	0.6	0.35757	D	0.819893	D	0.89917	1.0	D	0.74023	0.982	D	0.85598	0.1250	10	0.18276	T	0.48	.	13.5145	0.61533	0.1558:0.8442:0.0:0.0	.	543	Q8WYK1	CNTP5_HUMAN	M	543	ENSP00000399013:L543M	ENSP00000399013:L543M	L	+	1	2	CNTNAP5	125001484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.052000	0.41316	2.629000	0.89072	0.650000	0.86243	CTG	CNTNAP5	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000155052		0.413	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	80	0	C			125285014	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	A	A	125285014	C	A	125285014	3	1	3	1	0	0	0	0	1	0	0	0	3657	912	32	3	1665	3	CNTNAP5	2	125285014	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	40387479	125285014	117914359	30	677											
KIAA1715	80856	genome.wustl.edu	37	chr2	176804340	176804340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatccaaagcacctcgttctCgggggagaataggtcttgct	9	11	11	10	2	2	1	0	0	2	1	5	2	3	1	2	3	2	3	2	3	4	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:176804340C>T	ENST00000272748.4	-	10	999	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	KIAA1715_ENST00000544803.1_Missense_Mutation_p.R282Q|KIAA1715_ENST00000535310.1_Missense_Mutation_p.R176Q	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	251					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ACCTCGTTCTCGGGGGAGAAT	0.328																																																	0													87	86	87					2																	176804340		2203	4300	6503	SO:0001583	missense	0			AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"lunapark", "limb and neural patterns"	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.752G>A	2.37:g.176804340C>T	ENSP00000272748:p.Arg251Gln		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	pfam_DUF2296	p.R282Q	ENST00000272748.4	37	c.845	CCDS33332.1	2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986422	0.93044	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.32	5.32	0.75619	.	0.056651	0.64402	D	0.000002	T	0.72153	0.3425	M	0.79475	2.455	0.80722	D	1	D;P;P;P	0.53462	0.96;0.939;0.559;0.895	P;P;B;B	0.48166	0.569;0.498;0.095;0.367	T	0.77608	-0.2524	9	0.87932	D	0	-7.7837	19.3572	0.94420	0.0:1.0:0.0:0.0	.	253;282;248;251	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	Q	251;253;128;282;176	.	ENSP00000272748:R251Q	R	-	2	0	KIAA1715	176512586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.176000	0.77643	2.653000	0.90120	0.467000	0.42956	CGA	KIAA1715	-	NULL	ENSG00000144320		0.328	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1715	HGNC	protein_coding	OTTHUMT00000333949.3		0	48	0	C	XM_042834		176804340	-1			no_errors	ENST00000544803	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	176804340	C	T	176804340	3	4	3	1	0	0	0	0	1	0	0	0	8281	884	31	1	550	1	KIAA1715	2	176804340	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	51519326	176804340	66395033	31	678											
DNAJC10	54431	genome.wustl.edu	37	chr2	183621088	183621088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacacccaccaccttcaaCgaactagttacacaaagaaa	17	7	3	14	1	1	1	1	0	0	1	1	2	1	1	3	0	4	1	3	0	7	4	rs150626904	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:183621088C>T	ENST00000264065.7	+	18	2116	c.1701C>T	c.(1699-1701)aaC>aaT	p.N567N		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	567	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CCACCTTCAACGAACTAGTTA	0.388													C|||	2	0.000399361	0.0015	0	5008	,	,		15728	0		0	False		,,,				2504	0				Pancreas(56;860 1183 25669 35822 48585)												0								C		5,4401	9.9+/-24.2	0,5,2198	129	119	122		1701	-2	1	2	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	DNAJC10	NM_018981.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		567/794	183621088	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"Heat shock proteins / DNAJ (HSP40)", "Protein disulfide isomerases"	24637	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 19"	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.1701C>T	2.37:g.183621088C>T			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin	p.N567	ENST00000264065.7	37	c.1701	CCDS33345.1	2																																																																																			DNAJC10	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C	ENSG00000077232		0.388	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	-	0	51	0	C	NM_018981		183621088	1	tier1	rs150626904	no_errors	ENST00000264065	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.959	T	T	183621088	C	T	183621088	2	4	3	1	0	0	0	0	0	0	0	1	4643	535	19	1		1	DNAJC10	2	183621088	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	6816748	183621088	59578285	32	679											
BZW1	9689	genome.wustl.edu	37	chr2	201680407	201680407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagccccaggtggtacactgGcagatgacatgatgcgtaca	11	8	12	10	1	0	3	0	2	0	1	0	3	0	3	2	3	4	3	2	3	3	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:201680407G>T	ENST00000409600.1	+	4	714	c.259G>T	c.(259-261)Gca>Tca	p.A87S	BZW1_ENST00000452790.2_Missense_Mutation_p.A119S|BZW1_ENST00000409226.1_Missense_Mutation_p.A91S	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TGGTACACTGGCAGATGACAT	0.383																																																	0													87	80	82					2																	201680407		1932	4146	6078	SO:0001583	missense	0			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.259G>T	2.37:g.201680407G>T	ENSP00000386474:p.Ala87Ser		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.A87S	ENST00000409600.1	37	c.259	CCDS56156.1	2	.	.	.	.	.	.	.	.	.	.	G	9.961	1.222899	0.22457	.	.	ENSG00000082153	ENST00000450637;ENST00000452206;ENST00000410110;ENST00000409600;ENST00000409226;ENST00000452790;ENST00000447069;ENST00000419090	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.56	5.56	0.83823	.	0.051222	0.85682	D	0.000000	T	0.16811	0.0404	N	0.04355	-0.22	0.49798	D	0.999828	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.12156	0.007;0.001;0.004	T	0.13388	-1.0511	10	0.09084	T	0.74	-5.8681	19.8856	0.96911	0.0:0.0:1.0:0.0	.	91;119;87	B4DWF7;B4DLZ8;Q7L1Q6	.;.;BZW1_HUMAN	S	87;87;87;87;91;119;91;87	ENSP00000412072:A87S;ENSP00000390766:A87S;ENSP00000387086:A87S;ENSP00000386474:A87S;ENSP00000386837:A91S;ENSP00000394316:A119S;ENSP00000393587:A91S;ENSP00000407268:A87S	ENSP00000386837:A91S	A	+	1	0	BZW1	201388652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.795000	0.62489	2.771000	0.95319	0.650000	0.86243	GCA	BZW1	-	NULL	ENSG00000082153		0.383	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1	-	0	87	0	G	NM_014670		201680407	1	tier1	-	no_errors	ENST00000409600	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	201680407	G	T	201680407	3	4	3	1	0	0	0	0	1	0	0	0	1582	1203	42	3	269	3	BZW1	2	201680407	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	18059319	201680407	41518966	33	680											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209190824	209190824	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaataaagaattcaaaGaaatggagaacaggaggaag	20	6	10	5	0	2	3	2	0	0	3	3	6	3	5	1	3	1	0	1	3	8	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:209190824G>T	ENST00000264380.4	+	20	3447	c.3289G>T	c.(3289-3291)Gaa>Taa	p.E1097*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1097					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGAATTCAAAGAAATGGAGAA	0.438																																																	0													59	65	63					2																	209190824		2203	4300	6503	SO:0001587	stop_gained	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3289G>T	2.37:g.209190824G>T	ENSP00000264380:p.Glu1097*		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Nonsense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.E1097*	ENST00000264380.4	37	c.3289	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	38	7.286709	0.98189	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.6597	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1097;673;1041	.	ENSP00000264380:E1097X	E	+	1	0	PIKFYVE	208899069	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	9.756000	0.98918	2.941000	0.99782	0.655000	0.94253	GAA	PIKFYVE	-	NULL	ENSG00000115020		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0	35	0	G	NM_015040		209190824	1			no_errors	ENST00000264380	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	209190824	G	T	209190824	4	4	3	1	0	0	0	0	0	1	0	0	11963	943	33	3	3374	3	PIKFYVE	2	209190824	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7510417	209190824	34008549	34	681											
ANKZF1	55139	genome.wustl.edu	37	chr2	220099605	220099605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggagctagtggagttgaCtgtggggactctggatcttt	6	14	16	5	0	2	1	0	1	2	0	2	5	2	5	0	5	1	3	0	5	1	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:220099605C>T	ENST00000323348.5	+	10	1436	c.1262C>T	c.(1261-1263)aCt>aTt	p.T421I	ANKZF1_ENST00000410034.3_Missense_Mutation_p.T421I|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.T211I	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	421						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGAGTTGACTGTGGGGACT	0.507																																																	0													64	73	70					2																	220099605		2164	4271	6435	SO:0001583	missense	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1262C>T	2.37:g.220099605C>T	ENSP00000321617:p.Thr421Ile		Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T421I	ENST00000323348.5	37	c.1262	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684072	0.47991	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.35973	1.28;1.51;1.28	5.5	5.5	0.81552	.	0.044865	0.85682	D	0.000000	T	0.54919	0.1888	M	0.71581	2.175	0.58432	D	0.999996	D	0.56035	0.974	P	0.57425	0.82	T	0.52215	-0.8605	10	0.46703	T	0.11	-8.0875	16.7108	0.85385	0.0:1.0:0.0:0.0	.	421	Q9H8Y5	ANKZ1_HUMAN	I	421;211;421	ENSP00000321617:T421I;ENSP00000386815:T211I;ENSP00000386337:T421I	ENSP00000321617:T421I	T	+	2	0	ANKZF1	219807849	1.000000	0.71417	0.358000	0.25811	0.051000	0.14879	5.682000	0.68182	2.861000	0.98227	0.655000	0.94253	ACT	ANKZF1	-	NULL	ENSG00000163516		0.507	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	-	0	85	0	C	NM_018089		220099605	1	tier1	-	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	T	T	220099605	C	T	220099605	3	4	3	1	0	0	0	0	1	0	0	0	693	565	20	3	1296	3	ANKZF1	2	220099605	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	10908781	220099605	23099768	35	682											
COL4A4	1286	genome.wustl.edu	37	chr2	227872864	227872864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcggctgacataggggCggatcgcctcttcagagagt	9	7	14	11	3	2	2	1	1	1	1	3	4	2	3	1	4	1	1	1	4	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:227872864C>T	ENST00000396625.3	-	47	4886	c.4679G>A	c.(4678-4680)cGc>cAc	p.R1560H	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1557H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1560	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACATAGGGGCGGATCGCCTC	0.662																																																	0													31	38	36					2																	227872864		2049	4182	6231	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4679G>A	2.37:g.227872864C>T	ENSP00000379866:p.Arg1560His		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R1560H	ENST00000396625.3	37	c.4679	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013331	0.35511	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94650	-3.48;-3.48	5.91	4.93	0.64822	C-type lectin fold (1);	.	.	.	.	D	0.92241	0.7539	L	0.54863	1.705	0.09310	N	1	D	0.61697	0.99	P	0.45377	0.478	D	0.86863	0.2031	9	0.66056	D	0.02	.	6.6429	0.22919	0.0:0.7279:0.0:0.2721	.	1560	P53420	CO4A4_HUMAN	H	1560;1557	ENSP00000379866:R1560H;ENSP00000328553:R1557H	ENSP00000328553:R1557H	R	-	2	0	COL4A4	227581108	0.012000	0.17670	1.000000	0.80357	0.195000	0.23768	0.846000	0.27682	2.793000	0.96121	0.655000	0.94253	CGC	COL4A4	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000081052		0.662	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0	75	0	C	NM_000092		227872864	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.096	T	T	227872864	C	T	227872864	3	4	3	1	0	0	0	0	1	0	0	0	3700	768	27	1	401	1	COL4A4	2	227872864	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	7773259	227872864	15326509	36	683											
WDR69	164781	genome.wustl.edu	37	chr2	228750092	228750092	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttggaatatgaaaaacaTggagaattaaagactaagtc	19	10	9	3	0	0	3	0	1	0	2	1	5	0	4	0	2	1	1	0	2	8	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:228750092T>C	ENST00000309931.2	+	2	149	c.66T>C	c.(64-66)caT>caC	p.H22H	DAW1_ENST00000545118.1_Silent_p.H7H|SNORA25_ENST00000607153.1_RNA|DAW1_ENST00000373666.2_Silent_p.H22H	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	22						cilium (GO:0005929)											ATGAAAAACATGGAGAATTAA	0.348																																																	0													106	115	112					2																	228750092		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"WD repeat domain containing"	26383	protein-coding gene	gene with protein product	"outer row dynein assembly 16 homolog (Chlamydomonas)"		"WD repeat domain 69"	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.66T>C	2.37:g.228750092T>C			Q6ZRY1|Q8N776	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H22	ENST00000309931.2	37	c.66	CCDS2470.1	2																																																																																			DAW1	-	NULL	ENSG00000123977		0.348	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAW1	HGNC	protein_coding	OTTHUMT00000331745.1	-	0	78	0	T	NM_178821		228750092	1	tier1	-	no_errors	ENST00000309931	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.084	C	C	228750092	T	C	228750092	2	2	3	1	0	0	0	0	0	0	0	1	17368	1461	51	4		4	WDR69	2	228750092	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	877228	228750092	14449281	37	684											
NCL	4691	genome.wustl.edu	37	chr2	232319942	232319944	+	In_Frame_Del	DEL	CCT	CCT	-																															ttccttgtggcttgtggtcaCctcctcctcctctgcctcct																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:232319942_232319944delCCT	ENST00000322723.4	-	14	2331_2333	c.2091_2093delAGG	c.(2089-2094)ggaggt>ggt	p.697_698GG>G	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	697	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTTGTGGTCACCTCCTCCTCCTC	0.498																																																	0																																										SO:0001651	inframe_deletion	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.2091_2093delAGG	2.37:g.232319951_232319953delCCT	ENSP00000318195:p.Gly698del		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.G698in_frame_del	ENST00000322723.4	37	c.2093_2091	CCDS33397.1	2																																																																																			NCL	-	NULL	ENSG00000115053		0.498	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0	49	0	CCT	NM_005381		232319944	-1	tier1		no_errors	ENST00000322723	ensembl	human	known	74_37	in_frame_del	8.82	31	3	DEL	1.000:0.999:0.061	-	-	232319944	CCT	-	232319942	7	5	3	1	0	1	0	1	0	0	0	0	10265	507	18	0	43	0	NCL	2	232319942	In_Frame_Del	DEL	CCT	TCGA-2H-A9GH-01A-11D-A37C-09	3569850	232319942	10879431	38	685											
UGT1A4	54657	genome.wustl.edu	37	chr2	234627801	234627801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttctgaagagatattctaGaagtatggcaattatgaaca	15	13	8	5	0	3	4	0	2	3	2	3	5	3	4	0	1	1	2	0	1	8	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr2:234627801G>C	ENST00000373409.3	+	1	378	c.335G>C	c.(334-336)aGa>aCa	p.R112T	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	112					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	AGATATTCTAGAAGTATGGCA	0.453																																					Melanoma(99;1011 1962 13201 26492)												0													168	168	168					2																	234627801		2203	4300	6503	SO:0001583	missense	0			M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"UDP glucuronosyltransferases"	12536	other	complex locus constituent		606429	"UDP glycosyltransferase 1 family, polypeptide A4"			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.335G>C	2.37:g.234627801G>C	ENSP00000362508:p.Arg112Thr		B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R112T	ENST00000373409.3	37	c.335	CCDS33405.1	2	.	.	.	.	.	.	.	.	.	.	G	1.978	-0.434760	0.04669	.	.	ENSG00000244474	ENST00000373409	T	0.61274	0.12	4.16	-1.53	0.08611	.	.	.	.	.	T	0.32556	0.0833	N	0.08118	0	0.09310	N	1	B;B	0.28470	0.213;0.0	B;B	0.37198	0.243;0.005	T	0.35375	-0.9791	9	0.10636	T	0.68	.	5.2578	0.15555	0.5076:0.1493:0.3432:0.0	.	112;112	B8K288;P22310	.;UD14_HUMAN	T	112	ENSP00000362508:R112T	ENSP00000362508:R112T	R	+	2	0	UGT1A4	234292540	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.764000	0.04735	-0.668000	0.05296	-0.339000	0.08088	AGA	UGT1A4	-	pfam_UDP_glucos_trans	ENSG00000244474		0.453	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A4	HGNC	protein_coding	OTTHUMT00000130984.1	-	0	54	0	G	NM_007120		234627801	1	tier1	-	no_errors	ENST00000373409	ensembl	human	known	74_37	missense	18.75	37	9	SNP	0.000	C	C	234627801	G	C	234627801	3	2	3	1	0	0	0	0	1	0	0	0	16996	942	33	5	337	5	UGT1A4	2	234627801	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2307859	234627801	8571572	39	686											
IL17RC	84818	genome.wustl.edu	37	chr3	9971729	9971729	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactccctggggcctctcAaagacgatgtgctactgttg	8	10	11	12	1	1	2	1	0	1	2	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:9971729A>T	ENST00000295981.3	+	14	1605	c.1387A>T	c.(1387-1389)Aaa>Taa	p.K463*	IL17RC_ENST00000383812.4_Nonsense_Mutation_p.K377*|IL17RC_ENST00000455057.1_Nonsense_Mutation_p.K360*|IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000403601.3_Nonsense_Mutation_p.K392*|IL17RC_ENST00000413608.1_Nonsense_Mutation_p.K392*|IL17RC_ENST00000416074.2_Nonsense_Mutation_p.K231*	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	463					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGGCCTCTCAAAGACGATGT	0.592																																																	0													63	65	65					3																	9971729		2203	4300	6503	SO:0001587	stop_gained	0			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1387A>T	3.37:g.9971729A>T	ENSP00000295981:p.Lys463*		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Nonsense_Mutation	SNP	pfam_SEFIR	p.K463*	ENST00000295981.3	37	c.1387	CCDS2590.1	3	.	.	.	.	.	.	.	.	.	.	A	29.7	5.024928	0.93518	.	.	ENSG00000163702	ENST00000383812;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	.	.	.	5.84	4.61	0.57282	.	0.208574	0.32287	N	0.006314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.429	9.3636	0.38210	0.82:0.18:0.0:0.0	.	.	.	.	X	377;463;367;392;231;360;392	.	ENSP00000295981:K463X	K	+	1	0	IL17RC	9946729	0.834000	0.29399	0.999000	0.59377	0.199000	0.23934	2.676000	0.46883	2.234000	0.73211	0.459000	0.35465	AAA	IL17RC	-	NULL	ENSG00000163702		0.592	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	-	0	33	0	A	NM_032732		9971729	1	tier1	-	no_errors	ENST00000295981	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	0.999	T	T	9971729	A	T	9971729	4	4	3	1	0	0	0	0	0	1	0	0	7668	131	5	5	1441	5	IL17RC	3	9971729	Nonsense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09		9971729	188050701	40	687											
SLC22A14	9389	genome.wustl.edu	37	chr3	38357957	38357957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccctctcctccctgCtgccggaaacgcgagatcag	6	10	8	17	3	2	1	1	0	1	1	5	3	4	2	5	1	3	1	5	1	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:38357957C>T	ENST00000273173.4	+	9	1766	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	SLC22A14_ENST00000448498.1_Silent_p.L559L	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	559					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTCCTCCCTGCTGCCGGAAAC	0.612																																																	0													103	80	88					3																	38357957		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1675C>T	3.37:g.38357957C>T			A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L559	ENST00000273173.4	37	c.1675	CCDS2677.1	3																																																																																			SLC22A14	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000144671		0.612	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3	-	0	58	0	C	NM_004803		38357957	1	tier1	-	no_errors	ENST00000273173	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.000	T	T	38357957	C	T	38357957	2	4	3	1	0	0	0	0	0	0	0	1	14490	796	28	3		3	SLC22A14	3	38357957	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	28386228	38357957	159664473	41	688											
CCR1	1230	genome.wustl.edu	37	chr3	46245367	46245367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgacaccaaaagtgacGgtccgtgcccgcaaggcaaa	13	5	12	11	3	0	3	0	3	0	0	1	3	1	3	3	2	1	2	3	2	4	0	rs146268408		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:46245367G>A	ENST00000296140.3	-	2	563	c.438C>T	c.(436-438)acC>acT	p.T146T	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	146					calcium ion transport (GO:0006816)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|exocytosis (GO:0006887)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of osteoclast differentiation (GO:0045672)|response to wounding (GO:0009611)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine (C-C motif) ligand 7 binding (GO:0035717)|chemokine receptor activity (GO:0004950)|phosphatidylinositol phospholipase C activity (GO:0004435)			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAAAAGTGACGGTCCGTGCCC	0.517													G|||	1	0.000199681	0	0	5008	,	,		20906	0		0.001	False		,,,				2504	0																0								G		2,4404	4.2+/-10.8	0,2,2201	77	73	74		438	-9.7	0	3	dbSNP_134	74	11,8589	7.7+/-29.5	0,11,4289	no	coding-synonymous	CCR1	NM_001295.2		0,13,6490	AA,AG,GG		0.1279,0.0454,0.1		146/356	46245367	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2737.1	3p21	2012-08-08			ENSG00000163823	ENSG00000163823		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1602	protein-coding gene	gene with protein product		601159		SCYAR1, CMKBR1		7679328	Standard	NM_001295		Approved	CKR-1, MIP1aR, CD191	uc003cph.1	P32246	OTTHUMG00000133451	ENST00000296140.3:c.438C>T	3.37:g.46245367G>A			Q86VA9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR5,prints_NPY_rcpt,prints_ATII_rcpt	p.T146	ENST00000296140.3	37	c.438	CCDS2737.1	3																																																																																			CCR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt	ENSG00000163823		0.517	CCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR1	HGNC	protein_coding	OTTHUMT00000257325.2		0	21	0	G	NM_001295		46245367	-1			no_errors	ENST00000296140	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.000	A	A	46245367	G	A	46245367	2	1	3	1	0	0	0	0	0	0	0	1	2946	1103	39	1		1	CCR1	3	46245367	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7887410	46245367	151777063	42	689											
CSPG5	10675	genome.wustl.edu	37	chr3	47618986	47618986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctgccccccaggttcAgccaaacctccaaggggctc	7	7	11	16	0	1	0	1	0	0	0	3	0	2	0	6	3	4	3	6	3	2	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:47618986A>T	ENST00000383738.2	-	2	2628	c.530T>A	c.(529-531)cTg>cAg	p.L177Q	CSPG5_ENST00000456150.1_Missense_Mutation_p.L39Q|CSPG5_ENST00000264723.4_Missense_Mutation_p.L177Q|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	177					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCCCAGGTTCAGCCAAACCTC	0.637																																																	0													31	37	35					3																	47618986		2202	4300	6502	SO:0001583	missense	0			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.530T>A	3.37:g.47618986A>T	ENSP00000373244:p.Leu177Gln		Q71M39|Q71M40	Missense_Mutation	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.L177Q	ENST00000383738.2	37	c.530	CCDS56253.1	3	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750547	0.69533	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.61392	0.11;0.11;0.11	4.02	4.02	0.46733	Chondroitin sulphate attachment (1);	0.272209	0.23803	N	0.044405	T	0.59418	0.2192	L	0.27053	0.805	0.31433	N	0.672903	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62955	-0.6744	10	0.87932	D	0	-9.1175	6.2039	0.20591	0.8859:0.0:0.1141:0.0	.	177;177	O95196;O95196-2	CSPG5_HUMAN;.	Q	39;177;177	ENSP00000392096:L39Q;ENSP00000373244:L177Q;ENSP00000264723:L177Q	ENSP00000264723:L177Q	L	-	2	0	CSPG5	47593990	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.149000	0.50655	1.815000	0.52974	0.523000	0.50628	CTG	CSPG5	-	pfam_Chon_Sulph_att	ENSG00000114646		0.637	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	-	0	45	0	A	NM_006574		47618986	-1	tier1	-	no_errors	ENST00000383738	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	T	T	47618986	A	T	47618986	3	4	3	1	0	0	0	0	1	0	0	0	3970	188	7	5	1105	5	CSPG5	3	47618986	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	1373619	47618986	150403444	43	690											
CCDC51	79714	genome.wustl.edu	37	chr3	48474404	48474404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcacataggtggagccaGccacaccaatcagggccccc	10	5	11	15	0	2	0	2	0	0	0	2	1	2	1	5	4	2	1	5	4	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:48474404G>T	ENST00000395694.2	-	4	735	c.650C>A	c.(649-651)gCt>gAt	p.A217D	CCDC51_ENST00000395696.1_Missense_Mutation_p.A217D|CCDC51_ENST00000442740.1_Missense_Mutation_p.A108D|PLXNB1_ENST00000448774.2_5'Flank|CCDC51_ENST00000412398.2_Missense_Mutation_p.A108D|CCDC51_ENST00000447018.1_Missense_Mutation_p.A108D|PLXNB1_ENST00000296440.6_5'Flank	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	217						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGTGGAGCCAGCCACACCAAT	0.587																																																	0													83	89	87					3																	48474404		2010	4178	6188	SO:0001583	missense	0			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.650C>A	3.37:g.48474404G>T	ENSP00000379047:p.Ala217Asp		Q9HA01	Missense_Mutation	SNP	NULL	p.A217D	ENST00000395694.2	37	c.650	CCDS2766.2	3	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008170	0.75046	.	.	ENSG00000164051	ENST00000447018;ENST00000395694;ENST00000412398;ENST00000395696;ENST00000442740	T;T;T;T;T	0.50277	0.81;0.75;0.81;0.75;0.81	5.75	3.93	0.45458	.	0.342930	0.35495	N	0.003164	T	0.54515	0.1863	M	0.65975	2.015	0.39810	D	0.972693	D	0.64830	0.994	P	0.56751	0.805	T	0.57568	-0.7789	10	0.66056	D	0.02	-16.7393	3.9782	0.09484	0.2464:0.0:0.5801:0.1735	.	217	Q96ER9	CCD51_HUMAN	D	108;217;108;217;108	ENSP00000412300:A108D;ENSP00000379047:A217D;ENSP00000401194:A108D;ENSP00000379049:A217D;ENSP00000392898:A108D	ENSP00000379047:A217D	A	-	2	0	CCDC51	48449408	1.000000	0.71417	0.706000	0.30403	0.993000	0.82548	6.006000	0.70724	0.737000	0.32582	0.655000	0.94253	GCT	CCDC51	-	NULL	ENSG00000164051		0.587	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC51	HGNC	protein_coding	OTTHUMT00000344599.2	-	0	40	0	G	NM_024661		48474404	-1	tier1	-	no_errors	ENST00000395694	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.950	T	T	48474404	G	T	48474404	3	4	3	1	0	0	0	0	1	0	0	0	2828	971	34	3	589	3	CCDC51	3	48474404	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	855418	48474404	149548026	44	691											
TEX264	51368	genome.wustl.edu	37	chr3	51718507	51718507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccctcccctgagctcatcGacctctaccagaaatttggc	8	9	7	17	2	2	2	1	1	1	1	4	3	3	2	5	1	2	1	5	1	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:51718507G>A	ENST00000415259.1	+	3	1418	c.337G>A	c.(337-339)Gac>Aac	p.D113N	TEX264_ENST00000395057.1_Missense_Mutation_p.D113N|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000457573.1_Missense_Mutation_p.D113N|TEX264_ENST00000416589.1_Missense_Mutation_p.D113N|TEX264_ENST00000341333.5_Missense_Mutation_p.D113N			Q9Y6I9	TX264_HUMAN	testis expressed 264	113						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGAGCTCATCGACCTCTACCA	0.582																																																	0													71	58	63					3																	51718507		2203	4300	6503	SO:0001583	missense	0			AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"testis expressed gene 264", "testis expressed sequence 264"			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.337G>A	3.37:g.51718507G>A	ENSP00000396628:p.Asp113Asn		B3KN87|Q9UKD7	Missense_Mutation	SNP	superfamily_Reg_factor_effector_dom	p.D113N	ENST00000415259.1	37	c.337	CCDS2833.1	3	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543614	0.27563	.	.	ENSG00000164081	ENST00000457573;ENST00000341333;ENST00000412249;ENST00000425781;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T;T;T	0.02369	4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32;4.32	4.45	2.61	0.31194	Regulatory factor, effector, bacterial (1);	1.191870	0.05851	N	0.621161	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.21688	0.059;0.024	B;B	0.20184	0.028;0.017	T	0.48031	-0.9070	10	0.27785	T	0.31	-11.2531	2.2693	0.04086	0.3125:0.4238:0.1613:0.1024	.	113;113	Q53GI2;Q9Y6I9	.;TX264_HUMAN	N	113	ENSP00000408186:D113N;ENSP00000340969:D113N;ENSP00000393736:D113N;ENSP00000405783:D113N;ENSP00000396628:D113N;ENSP00000378497:D113N;ENSP00000398802:D113N;ENSP00000407151:D113N;ENSP00000415957:D113N	ENSP00000340969:D113N	D	+	1	0	TEX264	51693547	0.515000	0.26210	0.963000	0.40424	0.741000	0.42261	1.076000	0.30729	0.831000	0.34780	0.305000	0.20034	GAC	TEX264	-	superfamily_Reg_factor_effector_dom	ENSG00000164081		0.582	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TEX264	HGNC	protein_coding	OTTHUMT00000346530.1		0	36	0	G	NM_015926		51718507	1			no_errors	ENST00000341333	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.483	A	A	51718507	G	A	51718507	3	1	3	1	0	0	0	0	1	0	0	0	15830	1058	37	1	343	1	TEX264	3	51718507	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	3244103	51718507	146303923	45	692											
DNAH1	25981	genome.wustl.edu	37	chr3	52433140	52433140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggattcttcttcccccagGctttcttaacaggcactctg	6	14	8	13	0	4	0	0	0	4	0	5	1	5	1	2	3	1	2	2	3	1	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:52433140G>A	ENST00000420323.2	+	76	12625	c.12364G>A	c.(12364-12366)Gct>Act	p.A4122T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4187					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTTCCCCCAGGCTTTCTTAAC	0.527																																																	0													309	309	309					3																	52433140		1914	4121	6035	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12364G>A	3.37:g.52433140G>A	ENSP00000401514:p.Ala4122Thr		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.A4122T	ENST00000420323.2	37	c.12364	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738809	0.89573	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.11169	2.8	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000005	T	0.37919	0.1021	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;0.986	D;P	0.91635	0.999;0.843	T	0.38887	-0.9640	10	0.87932	D	0	.	17.746	0.88421	0.0:0.0:1.0:0.0	.	4122;4187	C9JXH6;Q9P2D7-2	.;.	T	4122;875	ENSP00000401514:A4122T	ENSP00000273600:A875T	A	+	1	0	DNAH1	52408180	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.411000	0.73298	2.506000	0.84524	0.655000	0.94253	GCT	DNAH1	-	pfam_Dynein_heavy_dom	ENSG00000114841		0.527	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	66	0	G	NM_015512		52433140	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	52433140	G	A	52433140	3	1	3	1	0	0	0	0	1	0	0	0	4611	1203	42	3	12662	3	DNAH1	3	52433140	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	714633	52433140	145589290	46	693											
FLNB	2317	genome.wustl.edu	37	chr3	58108914	58108914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggtactggaggtctggGcttaacggtggaaggtccgt	7	10	17	7	2	1	0	0	0	1	0	2	2	2	2	1	7	3	3	1	7	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:58108914G>T	ENST00000295956.4	+	21	3386	c.3221G>T	c.(3220-3222)gGc>gTc	p.G1074V	FLNB_ENST00000419752.2_Missense_Mutation_p.G905V|FLNB_ENST00000358537.3_Missense_Mutation_p.G1074V|FLNB_ENST00000357272.4_Missense_Mutation_p.G1074V|FLNB_ENST00000348383.5_Missense_Mutation_p.G1074V|FLNB_ENST00000490882.1_Missense_Mutation_p.G1074V|FLNB_ENST00000493452.1_Missense_Mutation_p.G905V|FLNB_ENST00000429972.2_Missense_Mutation_p.G1074V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1074					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGGTCTGGGCTTAACGGTG	0.587																																																	0													155	140	145					3																	58108914		2203	4300	6503	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3221G>T	3.37:g.58108914G>T	ENSP00000295956:p.Gly1074Val		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1074V	ENST00000295956.4	37	c.3221	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.127038	0.94429	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.66	5.66	0.87406	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;1.0;0.999;1.0;1.0	D	0.93148	0.6547	10	0.62326	D	0.03	.	20.1156	0.97930	0.0:0.0:1.0:0.0	.	1074;1074;905;905;1074;1074	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1074;1074;1074;1074;1074;1074;905;905	ENSP00000295956:G1074V;ENSP00000420213:G1074V;ENSP00000351339:G1074V;ENSP00000415599:G1074V;ENSP00000232447:G1074V;ENSP00000349819:G1074V;ENSP00000418510:G905V;ENSP00000414532:G905V	ENSP00000295956:G1074V	G	+	2	0	FLNB	58083954	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.809000	0.99208	2.824000	0.97209	0.655000	0.94253	GGC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	-	0	66	0	G	NM_001457		58108914	1	tier1	-	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	51.67	29	31	SNP	1.000	T	T	58108914	G	T	58108914	3	4	3	1	0	0	0	0	1	0	0	0	5956	1203	42	3	3303	3	FLNB	3	58108914	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	5675774	58108914	139913516	47	694											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64589620	64589620	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccagtccaaggccttcCattgcccacagggtgtcaca	9	8	9	15	0	1	0	1	0	0	0	4	0	4	0	5	2	2	1	5	2	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:64589620C>T	ENST00000498707.1	-	25	4067	c.3725G>A	c.(3724-3726)tGg>tAg	p.W1242*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.W1214*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1242	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAGGCCTTCCATTGCCCACA	0.557																																																	0													122	125	124					3																	64589620		2203	4300	6503	SO:0001587	stop_gained	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3725G>A	3.37:g.64589620C>T	ENSP00000418735:p.Trp1242*		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.W1242*	ENST00000498707.1	37	c.3725	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.576722|6.576722	0.97676|0.97676	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.47192|.	0.1432|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34477|.	-0.9827|.	4|.	.|0.02654	.|T	.|1	.|.	18.9748|18.9748	0.92731|0.92731	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	R|X	298|1214;1242	.|.	.|ENSP00000295903:W1214X	G|W	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64564660|64564660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.320000|7.320000	0.79064|0.79064	2.721000|2.721000	0.93114|0.93114	0.650000|0.650000	0.86243|0.86243	GGA|TGG	ADAMTS9	-	smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.557	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1		0	55	0	C			64589620	-1			no_errors	ENST00000498707	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	64589620	C	T	64589620	4	4	3	1	0	0	0	0	0	1	0	0	273	595	21	3	2142	3	ADAMTS9	3	64589620	Nonsense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	6480706	64589620	133432810	48	695											
HTR1F	3355	genome.wustl.edu	37	chr3	88039959	88039959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaactgttaaacagaatGccatccaaaattctggtgtc	14	10	9	8	0	1	1	0	0	1	1	3	3	2	2	2	2	3	1	2	2	6	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:88039959G>T	ENST00000319595.4	+	1	114	c.60G>T	c.(58-60)atG>atT	p.M20I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	20					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TAAACAGAATGCCATCCAAAA	0.388																																																	0													126	125	125					3																	88039959		2203	4300	6503	SO:0001583	missense	0			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.60G>T	3.37:g.88039959G>T	ENSP00000322924:p.Met20Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.M20I	ENST00000319595.4	37	c.60	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	G	7.716	0.696160	0.15106	.	.	ENSG00000179097	ENST00000319595	T	0.35048	1.33	5.74	4.87	0.63330	.	0.216774	0.48767	D	0.000166	T	0.17238	0.0414	N	0.08118	0	0.28842	N	0.896534	B	0.02656	0.0	B	0.01281	0.0	T	0.12941	-1.0528	10	0.22706	T	0.39	.	7.7844	0.29083	0.082:0.0:0.7581:0.1599	.	20	P30939	5HT1F_HUMAN	I	20	ENSP00000322924:M20I	ENSP00000322924:M20I	M	+	3	0	HTR1F	88122649	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	0.706000	0.25690	1.437000	0.47472	-0.224000	0.12420	ATG	HTR1F	-	prints_5HT1F_rcpt	ENSG00000179097		0.388	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	-	0	62	0	G	NM_000866		88039959	1	tier1	-	no_errors	ENST00000319595	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T	T	88039959	G	T	88039959	3	4	3	1	0	0	0	0	1	0	0	0	7467	1319	46	3	62	3	HTR1F	3	88039959	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	23450339	88039959	109982471	49	696											
EPHA3	2042	genome.wustl.edu	37	chr3	89448604	89448604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgggacgaacagccgcaAgtttgagtttgaaactagtc	13	10	11	7	2	0	2	0	2	0	0	1	4	0	3	1	1	3	3	1	1	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:89448604A>G	ENST00000336596.2	+	7	1793	c.1568A>G	c.(1567-1569)aAg>aGg	p.K523R	EPHA3_ENST00000494014.1_Missense_Mutation_p.K523R|EPHA3_ENST00000452448.2_Missense_Mutation_p.K523R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	523	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AACAGCCGCAAGTTTGAGTTT	0.458										TSP Lung(6;0.00050)																																							0													106	99	101					3																	89448604		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1568A>G	3.37:g.89448604A>G	ENSP00000337451:p.Lys523Arg		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K523R	ENST00000336596.2	37	c.1568	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562784	0.27915	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.53423	0.62;0.62;0.62	5.53	5.53	0.82687	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.151132	0.64402	D	0.000010	T	0.33498	0.0865	N	0.14661	0.345	0.44181	D	0.996997	P;B	0.35433	0.501;0.356	B;B	0.36922	0.081;0.236	T	0.14811	-1.0459	9	.	.	.	.	15.6643	0.77213	1.0:0.0:0.0:0.0	.	523;523	P29320;P29320-2	EPHA3_HUMAN;.	R	523	ENSP00000337451:K523R;ENSP00000399926:K523R;ENSP00000419190:K523R	.	K	+	2	0	EPHA3	89531294	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.023000	0.57211	2.107000	0.64212	0.460000	0.39030	AAG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1		0	31	0	A	NM_005233		89448604	1			no_errors	ENST00000336596	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	G	G	89448604	A	G	89448604	3	3	3	1	0	0	0	0	1	0	0	0	5184	72	3	4	1594	4	EPHA3	3	89448604	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	1408645	89448604	108573826	50	697											
TAGLN3	29114	genome.wustl.edu	37	chr3	111719776	111719776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaccgacatctttcagaCggtggatctatgggaaggta	12	9	11	9	2	3	1	1	0	2	1	3	4	3	3	2	4	1	1	2	4	4	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:111719776C>T	ENST00000393917.2	+	3	890	c.338C>T	c.(337-339)aCg>aTg	p.T113M	TAGLN3_ENST00000455401.2_Missense_Mutation_p.T113M|TAGLN3_ENST00000273368.4_Missense_Mutation_p.T113M|TAGLN3_ENST00000486460.1_Missense_Mutation_p.T29M|TAGLN3_ENST00000478951.1_Missense_Mutation_p.T113M	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	113	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						ATCTTTCAGACGGTGGATCTA	0.473																																																	0													125	128	127					3																	111719776		2203	4300	6503	SO:0001583	missense	0			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.338C>T	3.37:g.111719776C>T	ENSP00000377494:p.Thr113Met		D3DN64|Q96A74	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat	p.T113M	ENST00000393917.2	37	c.338	CCDS33816.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664767	0.88251	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460;ENST00000469385	T;T;T;T;T;D	0.95307	0.03;0.03;0.03;0.03;0.75;-3.67	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99383	1.0923	10	0.87932	D	0	-3.5105	18.9384	0.92595	0.0:1.0:0.0:0.0	.	113	Q9UI15	TAGL3_HUMAN	M	113;113;113;113;113;29;53	ENSP00000419105:T113M;ENSP00000377494:T113M;ENSP00000273368:T113M;ENSP00000391160:T113M;ENSP00000417904:T29M;ENSP00000420346:T53M	ENSP00000273368:T113M	T	+	2	0	TAGLN3	113202466	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.770000	0.95276	0.650000	0.86243	ACG	TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain	ENSG00000144834		0.473	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	-	0	78	0	C	NM_013259		111719776	1	tier1	-	no_errors	ENST00000273368	ensembl	human	known	74_37	missense	23.40	72	22	SNP	1.000	T	T	111719776	C	T	111719776	3	4	3	1	0	0	0	0	1	0	0	0	15587	536	19	1	344	1	TAGLN3	3	111719776	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	22271172	111719776	86302654	51	698											
DIRC2	84925	genome.wustl.edu	37	chr3	122564698	122564698	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttctggacttaattttaAcaccagcgcatgtcagccaa	12	11	8	10	1	2	0	1	0	1	0	2	2	2	1	2	1	3	2	2	1	3	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:122564698A>T	ENST00000261038.5	+	5	1320	c.922A>T	c.(922-924)Aca>Tca	p.T308S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	308					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTTAATTTTAACACCAGCGCA	0.338																																																	0													102	90	94					3																	122564698		2203	4300	6503	SO:0001583	missense	0			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"Solute carriers"	16628	protein-coding gene	gene with protein product	"renal cell carcinoma 4", "disrupted in renal cancer protein 2"	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.922A>T	3.37:g.122564698A>T	ENSP00000261038:p.Thr308Ser		A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.T308S	ENST00000261038.5	37	c.922	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	A	12.12	1.841621	0.32513	.	.	ENSG00000138463	ENST00000261038	T	0.58797	0.31	5.38	5.38	0.77491	Major facilitator superfamily domain, general substrate transporter (1);	0.093036	0.85682	D	0.000000	T	0.41419	0.1158	N	0.25485	0.75	0.58432	D	0.999992	B	0.22346	0.068	B	0.22753	0.041	T	0.27971	-1.0058	10	0.08381	T	0.77	.	12.7561	0.57336	1.0:0.0:0.0:0.0	.	308	Q96SL1	DIRC2_HUMAN	S	308	ENSP00000261038:T308S	ENSP00000261038:T308S	T	+	1	0	DIRC2	124047388	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.529000	0.81952	2.035000	0.60131	0.528000	0.53228	ACA	DIRC2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138463		0.338	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	-	0	59	0	A	NM_032839		122564698	1	tier1	-	no_errors	ENST00000261038	ensembl	human	known	74_37	missense	37.10	39	23	SNP	1.000	T	T	122564698	A	T	122564698	3	4	3	1	0	0	0	0	1	0	0	0	4548	43	2	5	940	5	DIRC2	3	122564698	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	10844922	122564698	75457732	52	699											
MUC13	56667	genome.wustl.edu	37	chr3	124646709	124646709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagtagctgttgggaaagGtgtatttgctgtggtgctag	8	14	16	3	0	0	1	0	1	0	0	0	2	0	2	0	3	3	6	0	3	5	5	rs75727765		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:124646709G>A	ENST00000311075.3	-	2	219	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	61	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTTGGGAAAGGTGTATTTGCT	0.458																																																	0													211	210	211					3																	124646709		2203	4300	6503	SO:0001583	missense	0			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.181C>T	3.37:g.124646709G>A	ENSP00000312235:p.Pro61Ser		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P61S	ENST00000311075.3	37	c.181		3	.	.	.	.	.	.	.	.	.	.	g	2.803	-0.248730	0.05867	.	.	ENSG00000173702	ENST00000311075	T	0.13089	2.62	2.04	-4.08	0.03963	.	1.726750	0.03707	N	0.249513	T	0.05593	0.0147	N	0.08118	0	0.09310	N	1	B	0.32409	0.37	B	0.30646	0.118	T	0.25502	-1.0130	10	0.08837	T	0.75	-1.1529	6.1417	0.20263	0.0:0.1432:0.6122:0.2446	.	61	Q9H3R2	MUC13_HUMAN	S	61	ENSP00000312235:P61S	ENSP00000312235:P61S	P	-	1	0	MUC13	126129399	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.112000	0.10791	-1.159000	0.02807	-0.283000	0.09986	CCT	MUC13	-	NULL	ENSG00000173702		0.458	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1		0	64	0	G	NM_033049		124646709	-1			no_errors	ENST00000311075	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	A	A	124646709	G	A	124646709	3	1	3	1	0	0	0	0	1	0	0	0	10009	1261	44	3	1394	3	MUC13	3	124646709	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2082011	124646709	73375721	53	700											
COL6A5	256076	genome.wustl.edu	37	chr3	130113738	130113738	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctattgcagtctgtCatcttcaggaagctgacgtg	7	17	9	8	1	5	1	2	1	3	0	5	2	5	2	0	1	2	2	0	1	2	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:130113738C>A	ENST00000432398.2	+	8	3492	c.2998C>A	c.(2998-3000)Cat>Aat	p.H1000N	COL6A5_ENST00000265379.6_Missense_Mutation_p.H1000N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1000	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGCAGTCTGTCATCTTCAGGA	0.328																																																	0													64	51	55					3																	130113738		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2998C>A	3.37:g.130113738C>A	ENSP00000390895:p.His1000Asn		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.H1000N	ENST00000432398.2	37	c.2998		3	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147259	0.06627	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.76968	-1.06;-1.06	5.53	-4.9	0.03094	.	.	.	.	.	T	0.48624	0.1510	N	0.02960	-0.455	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35699	-0.9778	9	0.22109	T	0.4	.	9.2557	0.37581	0.4108:0.1135:0.4757:0.0	.	1000	A8TX70-2	.	N	1000	ENSP00000390895:H1000N;ENSP00000265379:H1000N	ENSP00000265379:H1000N	H	+	1	0	COL6A5	131596428	0.030000	0.19436	0.002000	0.10522	0.380000	0.30137	0.119000	0.15626	-0.771000	0.04608	-0.494000	0.04653	CAT	COL6A5	-	NULL	ENSG00000172752		0.328	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0	26	0	C	NM_153264		130113738	1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.001	A	A	130113738	C	A	130113738	3	1	3	1	0	0	0	0	1	0	0	0	3709	826	29	3	3024	3	COL6A5	3	130113738	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5467029	130113738	67908692	54	701											
DNAJC13	23317	genome.wustl.edu	37	chr3	132244576	132244576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccaggcaatgaatcatagGaacaatgccattcctaagag	16	8	8	9	0	1	2	1	1	0	1	3	3	3	3	3	2	2	1	3	2	6	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:132244576G>T	ENST00000260818.6	+	52	6431	c.6183G>T	c.(6181-6183)agG>agT	p.R2061S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2061					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGAATCATAGGAACAATGCCA	0.448																																																	0													127	123	124					3																	132244576		2203	4300	6503	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6183G>T	3.37:g.132244576G>T	ENSP00000260818:p.Arg2061Ser		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.R2061S	ENST00000260818.6	37	c.6183	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284416	0.23392	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.45276	0.9	5.98	0.553	0.17235	Armadillo-like helical (1);Armadillo-type fold (1);	0.104671	0.64402	D	0.000004	T	0.17831	0.0428	N	0.08118	0	0.38589	D	0.95037	B	0.14012	0.009	B	0.14578	0.011	T	0.22417	-1.0217	10	0.07482	T	0.82	.	10.0221	0.42048	0.3708:0.0:0.6292:0.0	.	2061	O75165	DJC13_HUMAN	S	2061;708	ENSP00000260818:R2061S	ENSP00000260818:R2061S	R	+	3	2	DNAJC13	133727266	1.000000	0.71417	0.983000	0.44433	0.695000	0.40330	1.464000	0.35288	-0.182000	0.10602	-0.194000	0.12790	AGG	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.448	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2		0	53	0	G	NM_015268		132244576	1			no_errors	ENST00000260818	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	132244576	G	T	132244576	3	4	3	1	0	0	0	0	1	0	0	0	4646	1165	41	3	6385	3	DNAJC13	3	132244576	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2130838	132244576	65777854	55	702											
TF	7018	genome.wustl.edu	37	chr3	133485131	133485131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttgtagggtattttgCtatagcagtggtgaagaaat	10	16	11	4	0	1	2	0	1	1	1	1	2	1	2	0	2	2	4	0	2	6	8			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:133485131C>T	ENST00000402696.3	+	12	1825	c.1340C>T	c.(1339-1341)gCt>gTt	p.A447V	TF_ENST00000264998.3_Missense_Mutation_p.A320V	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	447	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GGGTATTTTGCTATAGCAGTG	0.478																																																	0													226	218	220					3																	133485131		2203	4300	6503	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1340C>T	3.37:g.133485131C>T	ENSP00000385834:p.Ala447Val		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.A447V	ENST00000402696.3	37	c.1340	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335664	0.41398	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.51574	0.7;0.7	4.87	3.03	0.35002	.	0.134573	0.64402	N	0.000002	T	0.42086	0.1187	L	0.37850	1.14	0.80722	D	1	P	0.42337	0.776	P	0.46110	0.504	T	0.24977	-1.0145	10	0.49607	T	0.09	-7.6507	9.6006	0.39601	0.0:0.7772:0.1428:0.08	.	447	P02787	TRFE_HUMAN	V	447;320	ENSP00000385834:A447V;ENSP00000264998:A320V	ENSP00000264998:A320V	A	+	2	0	TF	134967821	0.999000	0.42202	0.582000	0.28627	0.095000	0.18619	2.616000	0.46376	0.732000	0.32470	0.462000	0.41574	GCT	TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000091513		0.478	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	-	0	56	0	C	NM_001063		133485131	1	tier1	-	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	133485131	C	T	133485131	3	4	3	1	0	0	0	0	1	0	0	0	15832	797	28	3	1386	3	TF	3	133485131	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	1240555	133485131	64537299	56	703											
CLRN1	7401	genome.wustl.edu	37	chr3	150690295	150690295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcctcacaccctctccGtggaaaagcccgtactgcat	9	8	7	17	2	2	0	1	0	1	0	3	1	2	1	4	1	4	2	4	1	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:150690295G>A	ENST00000327047.1	-	1	491	c.201C>T	c.(199-201)caC>caT	p.H67H	CLRN1_ENST00000328863.4_Silent_p.H67H|CLRN1-AS1_ENST00000465576.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	67					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACCCTCTCCGTGGAAAAGCC	0.502																																																	0													95	83	87					3																	150690295		2203	4300	6503	SO:0001819	synonymous_variant	0			AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"Usher syndrome 3A"	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.201C>T	3.37:g.150690295G>A			D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	NULL	p.H67	ENST00000327047.1	37	c.201	CCDS3153.1	3																																																																																			CLRN1	-	NULL	ENSG00000163646		0.502	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN1	HGNC	protein_coding	OTTHUMT00000277060.1		0	49	0	G			150690295	-1			no_errors	ENST00000328863	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.981	A	A	150690295	G	A	150690295	2	1	3	1	0	0	0	0	0	0	0	1	3564	1136	40	1		1	CLRN1	3	150690295	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	17205164	150690295	47332135	57	704											
SI	6476	genome.wustl.edu	37	chr3	164735454	164735454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctggcatgactggatggCcaattacctttaaaaaaaat	16	10	8	7	0	0	1	0	1	0	0	0	2	0	2	2	3	2	2	2	3	7	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:164735454C>T	ENST00000264382.3	-	31	3703	c.3641G>A	c.(3640-3642)gGc>gAc	p.G1214D		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1214	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GACTGGATGGCCAATTACCTT	0.318										HNSCC(35;0.089)																																							0													49	46	47					3																	164735454		2203	4298	6501	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3641G>A	3.37:g.164735454C>T	ENSP00000264382:p.Gly1214Asp		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G1214D	ENST00000264382.3	37	c.3641	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436028	0.83885	.	.	ENSG00000090402	ENST00000264382	D	0.97066	-4.23	5.04	5.04	0.67666	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98834	1.0752	10	0.87932	D	0	.	18.5834	0.91180	0.0:1.0:0.0:0.0	.	1214	P14410	SUIS_HUMAN	D	1214	ENSP00000264382:G1214D	ENSP00000264382:G1214D	G	-	2	0	SI	166218148	1.000000	0.71417	0.986000	0.45419	0.936000	0.57629	6.834000	0.75339	2.609000	0.88269	0.591000	0.81541	GGC	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0	48	0	C	NM_001041		164735454	-1			no_errors	ENST00000264382	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	164735454	C	T	164735454	3	4	3	1	0	0	0	0	1	0	0	0	14342	739	26	3	1914	3	SI	3	164735454	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	14045159	164735454	33286976	58	705											
TNIK	23043	genome.wustl.edu	37	chr3	170875251	170875251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccgagcaggtcctcacctCctccagccgccgcctctgct	4	7	9	21	3	2	0	1	0	1	0	5	1	5	0	8	1	3	2	8	1	0	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:170875251C>T	ENST00000436636.2	-	12	1563	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	TNIK_ENST00000470834.1_Missense_Mutation_p.E407K|TNIK_ENST00000538048.1_Missense_Mutation_p.E407K|TNIK_ENST00000357327.5_Missense_Mutation_p.E407K|TNIK_ENST00000341852.6_Missense_Mutation_p.E407K|TNIK_ENST00000460047.1_Missense_Mutation_p.E407K|TNIK_ENST00000488470.1_Missense_Mutation_p.E407K|TNIK_ENST00000284483.8_Missense_Mutation_p.E407K|TNIK_ENST00000369326.5_Missense_Mutation_p.E407K|TNIK_ENST00000475336.1_Missense_Mutation_p.E407K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	407	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTCCTCACCTCCTCCAgccgc	0.642																																																	0													10	14	13					3																	170875251		2017	4130	6147	SO:0001583	missense	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1219G>A	3.37:g.170875251C>T	ENSP00000399511:p.Glu407Lys		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.E407K	ENST00000436636.2	37	c.1219	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.419156	0.96092	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.45276	3.66;0.98;1.05;0.9;4.3;0.9;0.98;3.72;3.72;0.98	5.61	5.61	0.85477	.	0.111683	0.64402	D	0.000010	T	0.68421	0.2999	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D;D;P	0.56035	0.974;0.974;0.974;0.974;0.974;0.974;0.974;0.956	D;D;D;D;D;D;D;D	0.70487	0.969;0.969;0.969;0.969;0.969;0.969;0.969;0.931	T	0.70691	-0.4802	10	0.62326	D	0.03	.	19.625	0.95674	0.0:1.0:0.0:0.0	.	407;407;407;407;407;407;407;407	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	K	407	ENSP00000399511:E407K;ENSP00000358332:E407K;ENSP00000443278:E407K;ENSP00000345352:E407K;ENSP00000284483:E407K;ENSP00000418156:E407K;ENSP00000349880:E407K;ENSP00000418916:E407K;ENSP00000418378:E407K;ENSP00000419990:E407K	ENSP00000284483:E407K	E	-	1	0	TNIK	172357945	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.818000	0.86416	2.646000	0.89796	0.555000	0.69702	GAG	TNIK	-	NULL	ENSG00000154310		0.642	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	-	0	61	0	C	XM_039796		170875251	-1	tier1	-	no_errors	ENST00000436636	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	T	T	170875251	C	T	170875251	3	4	3	1	0	0	0	0	1	0	0	0	16360	864	30	3	2951	3	TNIK	3	170875251	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	6139797	170875251	27147179	59	706											
ATP13A4	84239	genome.wustl.edu	37	chr3	193156843	193156843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctccatcaccacacataCctacaaagtaactaagaggg	15	7	7	12	0	1	1	1	0	0	1	2	1	2	1	3	2	3	2	3	2	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr3:193156843C>A	ENST00000342695.4	-	22	2853	c.2531G>T	c.(2530-2532)gGt>gTt	p.G844V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G825V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	844						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ACCACACATACCTACAAAGTA	0.373																																																	0													217	185	196					3																	193156843		2203	4300	6503	SO:0001583	missense	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2531G>T	3.37:g.193156843C>A	ENSP00000339182:p.Gly844Val		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.G844V	ENST00000342695.4	37	c.2531	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889884	0.91889	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.64618	-0.11;-0.11	5.96	5.96	0.96718	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.82396	-0.0478	10	0.59425	D	0.04	-15.2304	18.9858	0.92769	0.0:1.0:0.0:0.0	.	844	Q4VNC1	AT134_HUMAN	V	825;844	ENSP00000376238:G825V;ENSP00000339182:G844V	ENSP00000339182:G844V	G	-	2	0	ATP13A4	194639537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.433000	0.80362	2.832000	0.97577	0.655000	0.94253	GGT	ATP13A4	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000127249		0.373	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	-	0	56	0	C	NM_032279		193156843	-1	tier1	-	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	A	A	193156843	C	A	193156843	3	1	3	1	0	0	0	0	1	0	0	0	1127	507	18	3	1095	3	ATP13A4	3	193156843	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	22281592	193156843	4865587	60	707											
TAPT1	202018	genome.wustl.edu	37	chr4	16164964	16164964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacaaattgtgaacctGtctatctctaacaaatcttt	12	16	3	10	0	3	1	0	1	3	0	5	1	4	1	2	0	2	0	2	0	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:16164964G>A	ENST00000405303.2	-	14	1754	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	TAPT1_ENST00000399920.3_Silent_p.D446D|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	557					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTGTGAACCTGTCTATCTCTA	0.433																																																	0													176	172	173					4																	16164964		1883	4118	6001	SO:0001819	synonymous_variant	0			AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1671C>T	4.37:g.16164964G>A			Q8N2S3|Q9NZK9	Silent	SNP	pfam_Membrane_Tatp1/CMV_rcpt	p.D557	ENST00000405303.2	37	c.1671	CCDS47030.1	4																																																																																			TAPT1	-	NULL	ENSG00000169762		0.433	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	HGNC	protein_coding	OTTHUMT00000359568.1	-	0	50	0	G	NM_153365		16164964	-1	tier1	-	no_errors	ENST00000405303	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	A	A	16164964	G	A	16164964	2	1	3	1	0	0	0	0	0	0	0	1	15601	1368	48	3		3	TAPT1	4	16164964	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		16164964	174989312	61	708											
FAM114A1	92689	genome.wustl.edu	37	chr4	38910270	38910270	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatcggcaagaaaaccAtgaatgtccttgcagaaagt	16	9	8	8	1	1	3	1	1	0	2	3	3	2	3	2	1	2	2	2	1	6	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:38910270A>T	ENST00000358869.2	+	7	891	c.715A>T	c.(715-717)Atg>Ttg	p.M239L	FAM114A1_ENST00000515037.1_Missense_Mutation_p.M32L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	239						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAAGAAAACCATGAATGTCCT	0.438																																																	0													107	98	101					4																	38910270		2203	4300	6503	SO:0001583	missense	0				CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.715A>T	4.37:g.38910270A>T	ENSP00000351740:p.Met239Leu		A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	pfam_DUF719	p.M239L	ENST00000358869.2	37	c.715	CCDS3447.1	4	.	.	.	.	.	.	.	.	.	.	A	35	5.522655	0.96431	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.54866	0.55;0.55	6.17	6.17	0.99709	.	0.100079	0.85682	D	0.000000	T	0.75170	0.3813	M	0.84219	2.685	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.76945	-0.2771	10	0.49607	T	0.09	-23.4546	16.8222	0.85835	1.0:0.0:0.0:0.0	.	239	Q8IWE2	NXP20_HUMAN	L	32;239;32	ENSP00000424115:M32L;ENSP00000351740:M239L	ENSP00000347569:M32L	M	+	1	0	FAM114A1	38586665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	ATG	FAM114A1	-	pfam_DUF719	ENSG00000197712		0.438	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A1	HGNC	protein_coding	OTTHUMT00000250436.1	-	0	51	0	A	NM_138389		38910270	1	tier1	-	no_errors	ENST00000358869	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	T	T	38910270	A	T	38910270	3	4	3	1	0	0	0	0	1	0	0	0	5422	217	8	5	733	5	FAM114A1	4	38910270	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	22745306	38910270	152244006	62	709											
GABRG1	2565	genome.wustl.edu	37	chr4	46043213	46043213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccataatcatcttcttgcGgcacagaaatattattcatt	13	14	4	10	1	4	1	2	0	2	1	4	1	4	1	1	1	1	1	1	1	4	7	rs371875912		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:46043213G>T	ENST00000295452.4	-	9	1357	c.1190C>A	c.(1189-1191)cCg>cAg	p.P397Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	397					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCTTCTTGCGGCACAGAAAT	0.413																																																	0													80	82	81					4																	46043213		2203	4300	6503	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1190C>A	4.37:g.46043213G>T	ENSP00000295452:p.Pro397Gln		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P397Q	ENST00000295452.4	37	c.1190	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	5.295	0.239895	0.10023	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83755	-1.76	5.46	5.46	0.80206	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.234953	0.20750	U	0.086373	T	0.57621	0.2066	N	0.00841	-1.15	0.37111	D	0.90037	P	0.36330	0.548	B	0.34301	0.179	T	0.68179	-0.5477	10	0.28530	T	0.3	.	13.2924	0.60278	0.0:0.0:0.8418:0.1582	.	397	Q8N1C3	GBRG1_HUMAN	Q	397	ENSP00000295452:P397Q	ENSP00000295452:P397Q	P	-	2	0	GABRG1	45737970	0.974000	0.33945	0.886000	0.34754	0.024000	0.10985	1.951000	0.40333	2.553000	0.86117	0.585000	0.79938	CCG	GABRG1	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAg1_rcpt	ENSG00000163285		0.413	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1		0	52	0	G	NM_173536		46043213	-1			no_errors	ENST00000295452	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.979	T	T	46043213	G	T	46043213	3	4	3	1	0	0	0	0	1	0	0	0	6195	1116	39	2	211	2	GABRG1	4	46043213	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7132943	46043213	145111063	63	710											
ATP10D	57205	genome.wustl.edu	37	chr4	47548682	47548682	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctgtctctgaagatGaagattttatagacacagtc	14	11	10	6	0	1	5	0	2	1	3	3	6	1	6	0	1	1	1	0	1	5	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:47548682G>T	ENST00000273859.3	+	10	1707	c.1438G>T	c.(1438-1440)Gaa>Taa	p.E480*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E465*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	480					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E480Q(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTCTGAAGATGAAGATTTTAT	0.468																																																	1	Substitution - Missense(1)	lung(1)											112	113	113					4																	47548682		2203	4300	6503	SO:0001587	stop_gained	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1438G>T	4.37:g.47548682G>T	ENSP00000273859:p.Glu480*		A2RRC8|D6REN2|Q8NC70|Q96SR3	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E480*	ENST00000273859.3	37	c.1438	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426030	0.83667	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	.	.	.	4.78	4.78	0.61160	.	0.217391	0.31601	N	0.007377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-4.6253	16.9659	0.86285	0.0:0.0:1.0:0.0	.	.	.	.	X	480;465	.	ENSP00000273859:E480X	E	+	1	0	ATP10D	47243439	1.000000	0.71417	0.979000	0.43373	0.929000	0.56500	6.454000	0.73493	2.499000	0.84300	0.491000	0.48974	GAA	ATP10D	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.468	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1		0	56	0	G	NM_020453		47548682	1			no_errors	ENST00000273859	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	1.000	T	T	47548682	G	T	47548682	4	4	3	1	0	0	0	0	0	1	0	0	1119	1291	45	3	1472	3	ATP10D	4	47548682	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	1505469	47548682	143605594	64	711											
PDGFRA	5156	genome.wustl.edu	37	chr4	55139789	55139789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccgagacaggagtaccGtggagggccgtgtgactttc	8	8	14	11	3	0	2	0	1	0	1	2	5	1	4	3	3	1	1	3	3	1	2	rs149031291	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:55139789G>A	ENST00000257290.5	+	10	1781	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	484	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CAGGAGTACCGTGGAGGGCCG	0.507			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	0								G	MET/VAL	0,4406		0,0,2203	93	90	91		1450	2.8	0.7	4	dbSNP_134	91	3,8597	3.0+/-9.4	0,3,4297	no	missense	PDGFRA	NM_006206.4	21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	484/1090	55139789	3,13003	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1450G>A	4.37:g.55139789G>A	ENSP00000257290:p.Val484Met		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V484M	ENST00000257290.5	37	c.1450	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	7.914	0.737211	0.15574	0.0	3.49E-4	ENSG00000134853	ENST00000257290	T	0.78246	-1.16	5.48	2.81	0.32909	Immunoglobulin-like fold (1);	0.000000	0.29522	U	0.011906	T	0.64316	0.2587	N	0.16833	0.445	0.80722	D	1	D;P	0.53151	0.958;0.532	P;B	0.45794	0.493;0.032	T	0.65187	-0.6229	10	0.62326	D	0.03	.	8.7508	0.34613	0.287:0.0:0.713:0.0	.	484;484	P16234-3;P16234	.;PGFRA_HUMAN	M	484	ENSP00000257290:V484M	ENSP00000257290:V484M	V	+	1	0	PDGFRA	54834546	0.998000	0.40836	0.687000	0.30102	0.013000	0.08279	3.120000	0.50430	0.792000	0.33850	0.650000	0.86243	GTG	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000134853		0.507	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	-	0	28	0	G	NM_006206		55139789	1	tier1	rs149031291	no_errors	ENST00000257290	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.998	A	A	55139789	G	A	55139789	3	1	3	1	0	0	0	0	1	0	0	0	11700	1145	40	1	1484	1	PDGFRA	4	55139789	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7591107	55139789	136014487	65	712											
WDFY3	23001	genome.wustl.edu	37	chr4	85696071	85696071	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagacatatctcgaagAgtcaggagcagctttgggat	14	9	12	6	1	2	2	1	0	1	2	3	6	2	4	0	2	2	2	0	2	4	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:85696071A>C	ENST00000295888.4	-	29	5063	c.4656T>G	c.(4654-4656)acT>acG	p.T1552T	WDFY3_ENST00000322366.6_Silent_p.T1552T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1552					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TATCTCGAAGAGTCAGGAGCA	0.393																																																	0													128	136	133					4																	85696071		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4656T>G	4.37:g.85696071A>C			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1552	ENST00000295888.4	37	c.4656	CCDS3609.1	4																																																																																			WDFY3	-	NULL	ENSG00000163625		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	57	0	A	NM_014991		85696071	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	58.33	15	21	SNP	0.978	C	C	85696071	A	C	85696071	2	2	3	1	0	0	0	0	0	0	0	1	17319	291	11	4		4	WDFY3	4	85696071	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	30556282	85696071	105458205	66	713											
ADH1B	125	genome.wustl.edu	37	chr4	100232043	100232043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaagttttgggatacCttctttactcttaaagcctg	10	14	7	10	0	2	0	0	0	2	0	2	1	2	1	3	1	4	1	3	1	5	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:100232043C>T	ENST00000305046.8	-	8	1049	c.982G>A	c.(982-984)Ggt>Agt	p.G328S	ADH1B_ENST00000394887.3_Missense_Mutation_p.G288S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	328					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTGGGATACCTTCTTTACTC	0.333																																																	0													119	122	121					4																	100232043		2203	4299	6502	SO:0001583	missense	0			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"Alcohol dehydrogenases"	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.982G>A	4.37:g.100232043C>T	ENSP00000306606:p.Gly328Ser		A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.G328S	ENST00000305046.8	37	c.982	CCDS34033.1	4	.	.	.	.	.	.	.	.	.	.	C	0	-2.618416	0.00118	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.05025	3.51;3.51	3.66	-1.05	0.10036	GroES-like (1);Alcohol dehydrogenase, C-terminal (1);	1.119760	0.06588	N	0.751566	T	0.01730	0.0055	N	0.00335	-1.625	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.42327	-0.9458	10	0.02654	T	1	-0.1345	13.7798	0.63077	0.377:0.623:0.0:0.0	.	315;288;328	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	S	328;288;315	ENSP00000306606:G328S;ENSP00000378351:G288S	ENSP00000306606:G328S	G	-	1	0	ADH1B	100451066	0.000000	0.05858	0.111000	0.21465	0.012000	0.07955	-0.321000	0.08018	-0.014000	0.14175	-0.397000	0.06425	GGT	ADH1B	-	pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	ENSG00000196616		0.333	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1B	HGNC	protein_coding	OTTHUMT00000364853.1	-	0	73	0	C	NM_000668		100232043	-1	tier1	-	no_errors	ENST00000305046	ensembl	human	known	74_37	missense	56.67	13	17	SNP	0.001	T	T	100232043	C	T	100232043	3	4	3	1	0	0	0	0	1	0	0	0	308	681	24	3	153	3	ADH1B	4	100232043	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	14535972	100232043	90922233	67	714											
GLRB	2743	genome.wustl.edu	37	chr4	158041783	158041783	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaacaggttattggtcagTtatgatcccaggataagacc	12	12	10	7	0	1	3	1	2	0	1	2	4	2	4	2	3	1	2	2	3	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:158041783T>G	ENST00000264428.4	+	3	468	c.198T>G	c.(196-198)agT>agG	p.S66R	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Missense_Mutation_p.S66R|GLRB_ENST00000509282.1_Missense_Mutation_p.S66R	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	66					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TATTGGTCAGTTATGATCCCA	0.363																																																	0													109	113	111					4																	158041783		2203	4300	6503	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.198T>G	4.37:g.158041783T>G	ENSP00000264428:p.Ser66Arg		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S66R	ENST00000264428.4	37	c.198	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786411	0.49997	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.77489	-1.1;-1.1;-1.1	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.130278	0.64402	D	0.000002	T	0.66015	0.2747	N	0.17594	0.5	0.45621	D	0.998556	B	0.31413	0.322	B	0.36608	0.229	T	0.68941	-0.5276	10	0.87932	D	0	.	10.2886	0.43581	0.0:0.0845:0.0:0.9155	.	66	P48167	GLRB_HUMAN	R	66	ENSP00000264428:S66R;ENSP00000441873:S66R;ENSP00000427186:S66R	ENSP00000264428:S66R	S	+	3	2	GLRB	158261233	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	0.760000	0.26475	2.126000	0.65437	0.254000	0.18369	AGT	GLRB	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_B,tigrfam_Neur_channel	ENSG00000109738		0.363	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0	73	0	T	NM_000824		158041783	1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G	G	158041783	T	G	158041783	3	3	3	1	0	0	0	0	1	0	0	0	6484	1722	60	4	204	4	GLRB	4	158041783	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	57809740	158041783	33112493	68	715											
ANXA10	11199	genome.wustl.edu	37	chr4	169086462	169086462	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggacacttcagagatactctCatgaacttggtccaggtatg	11	11	10	9	0	2	2	2	1	1	1	4	4	3	3	1	3	2	1	1	3	3	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:169086462C>G	ENST00000359299.3	+	6	651	c.465C>G	c.(463-465)ctC>ctG	p.L155L		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	155						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GAGATACTCTCATGAACTTGG	0.313																																																	0													74	77	76					4																	169086462		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.465C>G	4.37:g.169086462C>G			Q96IQ5|Q9UJV4	Silent	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX	p.L155	ENST00000359299.3	37	c.465	CCDS34096.1	4																																																																																			ANXA10	-	pfam_Annexin_repeat,smart_Annexin_repeat	ENSG00000109511		0.313	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA10	HGNC	protein_coding	OTTHUMT00000364348.2	-	0	56	0	C	NM_007193		169086462	1	tier1	-	no_errors	ENST00000359299	ensembl	human	known	74_37	silent	75.47	13	40	SNP	0.986	G	G	169086462	C	G	169086462	2	3	3	1	0	0	0	0	0	0	0	1	715	813	29	5		5	ANXA10	4	169086462	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	11044679	169086462	22067814	69	716											
HMGB2	3148	genome.wustl.edu	37	chr4	174253279	174253279	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatcttcttcttcCtcctcctcctcctcatcttc	3	19	0	19	0	8	0	3	0	5	0	14	0	13	0	5	0	0	0	5	0	0	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:174253279C>T	ENST00000296503.5	-	5	1455	c.582G>A	c.(580-582)gaG>gaA	p.E194E	HMGB2_ENST00000438704.2_Silent_p.E194E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000446922.2_Silent_p.E194E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cttcttcttcctcctcctcct	0.473																																																	1	Substitution - coding silent(1)	endometrium(1)											302	253	269					4																	174253279		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582G>A	4.37:g.174253279C>T			B2R4K8|D3DP37|Q5U072	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E194	ENST00000296503.5	37	c.582	CCDS3816.1	4																																																																																			HMGB2	-	NULL	ENSG00000164104		0.473	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1		0	43	0	C	NM_001130688		174253279	-1			no_errors	ENST00000296503	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.850	T	T	174253279	C	T	174253279	2	4	3	1	0	0	0	0	0	0	0	1	7253	680	24	3		3	HMGB2	4	174253279	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5166817	174253279	16900997	70	717											
VEGFC	7424	genome.wustl.edu	37	chr4	177608420	177608420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcacaggcacattttcCaggatttaggggttgatttc	10	14	9	8	0	1	1	1	1	0	0	3	2	2	2	1	4	0	2	1	4	1	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr4:177608420C>T	ENST00000280193.2	-	6	1481	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	356	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GCACATTTTCCAGGATTTAGG	0.438																																																	0													254	228	236					4																	177608420		1843	4094	5937	SO:0001583	missense	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1066G>A	4.37:g.177608420C>T	ENSP00000280193:p.Gly356Arg		B2R9Q8	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.G356R	ENST00000280193.2	37	c.1066	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680386	0.29872	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.62	3.85	0.44370	.	0.430212	0.24735	N	0.036037	T	0.34571	0.0902	L	0.36672	1.1	0.30781	N	0.741941	B	0.31125	0.309	B	0.29267	0.1	T	0.33137	-0.9880	9	0.27785	T	0.31	-3.1576	10.0588	0.42261	0.1387:0.7906:0.0:0.0707	.	356	P49767	VEGFC_HUMAN	R	356	.	ENSP00000280193:G356R	G	-	1	0	VEGFC	177845414	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	2.879000	0.48522	1.322000	0.45245	0.655000	0.94253	GGA	VEGFC	-	NULL	ENSG00000150630		0.438	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	-	0	89	0	C	NM_005429		177608420	-1	tier1	-	no_errors	ENST00000280193	ensembl	human	known	74_37	missense	71.23	21	52	SNP	0.987	T	T	177608420	C	T	177608420	3	4	3	1	0	0	0	0	1	0	0	0	17201	603	21	3	204	3	VEGFC	4	177608420	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	3355141	177608420	13545856	71	718											
AHRR	57491	genome.wustl.edu	37	chr5	434629	434629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcacctggggcacggcgtgCggggggctcagccccatggg	4	4	19	14	4	1	0	1	0	0	0	1	0	1	0	3	7	2	3	3	7	0	0	rs370481942		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:434629C>T	ENST00000505113.1	+	11	1830	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	AHRR_ENST00000512529.1_Missense_Mutation_p.R442W|AHRR_ENST00000506456.1_Missense_Mutation_p.R452W|AHRR_ENST00000316418.5_Missense_Mutation_p.R614W	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	596	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCACGGCGTGCGGGGGGCTCA	0.662																																																	0								C	TRP/ARG,TRP/ARG	0,4178		0,0,2089	21	25	24		1786,1840	0.6	0	5		24	1,8425		0,1,4212	no	missense,missense	AHRR	NM_001242412.1,NM_020731.4	101,101	0,1,6301	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging,probably-damaging	596/702,614/720	434629	1,12603	2089	4213	6302	SO:0001583	missense	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1786C>T	5.37:g.434629C>T	ENSP00000424601:p.Arg596Trp		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.R614W	ENST00000505113.1	37	c.1840	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695604	0.30052	0.0	1.19E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.22743	2.27;2.26;1.94;1.94	4.03	0.645	0.17782	.	1.348380	0.04746	N	0.423775	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	D;P;D	0.60575	0.988;0.937;0.963	B;B;P	0.46975	0.436;0.332;0.533	T	0.13737	-1.0498	10	0.72032	D	0.01	.	4.0979	0.10000	0.0:0.4318:0.2304:0.3377	.	452;596;614	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	W	596;614;442;452	ENSP00000424601:R596W;ENSP00000323816:R614W;ENSP00000424880:R442W;ENSP00000426932:R452W	ENSP00000323816:R614W	R	+	1	2	AHRR	487629	0.000000	0.05858	0.031000	0.17742	0.004000	0.04260	0.197000	0.17197	0.286000	0.22352	-0.680000	0.03767	CGG	AHRR	-	NULL	ENSG00000063438		0.662	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1		0	25	0	C	NM_020731		434629	1			no_errors	ENST00000316418	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.002	T	T	434629	C	T	434629	3	4	3	1	0	0	0	0	1	0	0	0	417	759	27	1	1886	1	AHRR	5	434629	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09		434629	180480631	72	719											
IRX2	153572	genome.wustl.edu	37	chr5	2749614	2749614	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtttctcggggcccaGgtcatcttgttctccttctt	2	19	8	12	1	5	0	1	0	4	0	7	0	5	0	2	3	0	2	2	3	0	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:2749614G>T	ENST00000382611.6	-	2	785	c.537C>A	c.(535-537)acC>acA	p.T179T	C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000302057.5_Silent_p.T179T|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	179					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T179>I(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCGGGGCCCAGGTCATCTTGT	0.597																																																	1	Complex - compound substitution(1)	skin(1)											139	132	134					5																	2749614		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"Homeoboxes / TALE class"	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.537C>A	5.37:g.2749614G>T			Q68A19|Q7Z2I7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.T179	ENST00000382611.6	37	c.537	CCDS3868.1	5																																																																																			IRX2	-	smart_Homeobox_dom	ENSG00000170561		0.597	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX2	HGNC	protein_coding	OTTHUMT00000206749.2		0	83	0	G			2749614	-1			no_errors	ENST00000302057	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.259	T	T	2749614	G	T	2749614	2	4	3	1	0	0	0	0	0	0	0	1	7871	987	35	3		3	IRX2	5	2749614	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2314985	2749614	178165646	73	720											
SEMA5A	9037	genome.wustl.edu	37	chr5	9108359	9108359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggaccccagcctgtccAgaacatgtgtgggggacata	11	6	12	12	0	0	1	0	0	0	1	1	3	1	3	5	3	2	0	5	3	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:9108359A>T	ENST00000382496.5	-	16	2631	c.1966T>A	c.(1966-1968)Tgg>Agg	p.W656R		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	656	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGCCTGTCCAGAACATGTGT	0.522																																																	0													73	69	70					5																	9108359		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1966T>A	5.37:g.9108359A>T	ENSP00000371936:p.Trp656Arg		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.W656R	ENST00000382496.5	37	c.1966	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	A	24.1	4.491618	0.84962	.	.	ENSG00000112902	ENST00000382496	T	0.62639	0.01	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86772	0.6013	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.91202	0.4992	10	0.87932	D	0	.	13.214	0.59844	1.0:0.0:0.0:0.0	.	656	Q13591	SEM5A_HUMAN	R	656	ENSP00000371936:W656R	ENSP00000371936:W656R	W	-	1	0	SEMA5A	9161359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.190000	0.89714	2.371000	0.80710	0.533000	0.62120	TGG	SEMA5A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112902		0.522	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2		0	56	0	A			9108359	-1			no_errors	ENST00000382496	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	9108359	A	T	9108359	3	4	3	1	0	0	0	0	1	0	0	0	14082	188	7	5	1290	5	SEMA5A	5	9108359	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	6358745	9108359	171806901	74	721											
PTGER4	5734	genome.wustl.edu	37	chr5	40691994	40691994	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccccatcctagacccctgGatatatatcctcctgagaaa	13	9	5	14	0	0	2	0	1	0	2	3	4	3	3	7	1	1	0	7	1	6	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:40691994G>A	ENST00000302472.3	+	3	2005	c.981G>A	c.(979-981)tgG>tgA	p.W327*		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	327					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TAGACCCCTGGATATATATCC	0.498																																																	0													96	102	100					5																	40691994		2203	4300	6503	SO:0001587	stop_gained	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.981G>A	5.37:g.40691994G>A	ENSP00000302846:p.Trp327*		Q3MJ87	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.W327*	ENST00000302472.3	37	c.981	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	G	45	11.529066	0.99572	.	.	ENSG00000171522	ENST00000302472	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-13.2645	19.5183	0.95174	0.0:0.0:1.0:0.0	.	.	.	.	X	327	.	ENSP00000302846:W327X	W	+	3	0	PTGER4	40727751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.613000	0.88420	0.467000	0.42956	TGG	PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171522		0.498	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	-	0	35	0	G	NM_000958		40691994	1	tier1	-	no_errors	ENST00000302472	ensembl	human	known	74_37	nonsense	26.42	39	14	SNP	1.000	A	A	40691994	G	A	40691994	4	1	3	1	0	0	0	0	0	1	0	0	12788	1183	41	3	987	3	PTGER4	5	40691994	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	31583635	40691994	140223266	75	722											
CARD6	84674	genome.wustl.edu	37	chr5	40853005	40853005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaaacccctttttccAaaagcctgttgctctggcta	12	11	7	11	0	1	0	0	0	1	0	2	1	2	1	4	2	3	3	4	2	6	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:40853005A>G	ENST00000254691.5	+	3	1770	c.1571A>G	c.(1570-1572)cAa>cGa	p.Q524R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	524					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCCTTTTTCCAAAAGCCTGTT	0.423																																																	0													74	79	78					5																	40853005		2203	4300	6503	SO:0001583	missense	0			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1571A>G	5.37:g.40853005A>G	ENSP00000254691:p.Gln524Arg		Q52LR2	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD	p.Q524R	ENST00000254691.5	37	c.1571	CCDS3935.1	5	.	.	.	.	.	.	.	.	.	.	A	15.52	2.857775	0.51376	.	.	ENSG00000132357	ENST00000254691	T	0.12774	2.65	5.48	4.32	0.51571	.	0.476460	0.20015	N	0.101037	T	0.25717	0.0626	M	0.67953	2.075	0.80722	D	1	D	0.64830	0.994	P	0.56278	0.795	T	0.02167	-1.1202	10	0.24483	T	0.36	-3.1903	10.0462	0.42188	0.5894:0.4106:0.0:0.0	.	524	Q9BX69	CARD6_HUMAN	R	524	ENSP00000254691:Q524R	ENSP00000254691:Q524R	Q	+	2	0	CARD6	40888762	0.858000	0.29795	0.972000	0.41901	0.805000	0.45488	0.390000	0.20768	1.037000	0.40024	0.528000	0.53228	CAA	CARD6	-	NULL	ENSG00000132357		0.423	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD6	HGNC	protein_coding	OTTHUMT00000211584.3	-	0	68	0	A			40853005	1	tier1	-	no_errors	ENST00000254691	ensembl	human	known	74_37	missense	15.62	54	10	SNP	0.916	G	G	40853005	A	G	40853005	3	3	3	1	0	0	0	0	1	0	0	0	2657	130	5	4	1581	4	CARD6	5	40853005	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	161011	40853005	140062255	76	723											
OCLN	100506658	genome.wustl.edu	37	chr5	68805284	68805284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctatggctatggctatGgttatggctatggctacgga	7	13	15	6	1	0	0	0	0	0	0	0	1	0	1	0	7	1	6	0	7	6	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:68805284G>A	ENST00000355237.2	+	3	803	c.367G>A	c.(367-369)Ggt>Agt	p.G123S	OCLN_ENST00000396442.2_Missense_Mutation_p.G123S|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.G123S	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	123	Gly/Tyr-rich.|MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ctatggctatggttatggcta	0.507																																																	0													125	101	110					5																	68805284		2203	4300	6503	SO:0001583	missense	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.367G>A	5.37:g.68805284G>A	ENSP00000347379:p.Gly123Ser		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin	p.G123S	ENST00000355237.2	37	c.367	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410513	0.42715	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766	D;D;D	0.86366	-2.11;-2.11;-2.11	5.96	5.96	0.96718	Marvel (1);MARVEL-like domain (1);	0.347474	0.36101	N	0.002794	D	0.93419	0.7901	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90450	0.4438	10	0.19590	T	0.45	-24.1818	19.1934	0.93677	0.0:0.0:1.0:0.0	.	123	Q16625	OCLN_HUMAN	S	123	ENSP00000347379:G123S;ENSP00000379719:G123S;ENSP00000370143:G123S	ENSP00000347379:G123S	G	+	1	0	OCLN	68841040	0.751000	0.28327	0.991000	0.47740	0.361000	0.29550	2.362000	0.44169	2.832000	0.97577	0.655000	0.94253	GGT	OCLN	-	pfam_Marvel,pirsf_Occludin	ENSG00000197822		0.507	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0	90	0	G	NM_002538		68805284	1	tier1	-	no_errors	ENST00000355237	ensembl	human	known	74_37	missense	42.25	41	30	SNP	1.000	A	A	68805284	G	A	68805284	3	1	3	1	0	0	0	0	1	0	0	0	10859	1348	47	3	373	3	OCLN	5	68805284	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	27952279	68805284	112109976	77	724											
MCC	4163	genome.wustl.edu	37	chr5	112399790	112399790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgagcagggccttggcagCgttctcagctgtcttccggc	5	10	13	13	2	2	1	1	1	2	0	4	1	3	1	2	3	3	4	2	3	0	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:112399790C>A	ENST00000302475.4	-	12	2097	c.1534G>T	c.(1534-1536)Gct>Tct	p.A512S	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.A449S|MCC_ENST00000408903.3_Missense_Mutation_p.A702S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	512					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTTGGCAGCGTTCTCAGCT	0.602																																																	0													69	66	67					5																	112399790		2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1534G>T	5.37:g.112399790C>A	ENSP00000305617:p.Ala512Ser		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.A512S	ENST00000302475.4	37	c.1534	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336402	0.81801	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.35973	2.45;2.45;1.28	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.41766	0.1173	N	0.14661	0.345	0.80722	D	1	D;D;D	0.71674	0.993;0.998;0.993	D;D;D	0.81914	0.964;0.995;0.964	T	0.16394	-1.0404	10	0.08837	T	0.75	-12.6854	19.3534	0.94401	0.0:1.0:0.0:0.0	.	512;702;512	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	S	512;449;702	ENSP00000305617:A512S;ENSP00000421615:A449S;ENSP00000386227:A702S	ENSP00000305617:A512S	A	-	1	0	MCC	112427689	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	6.147000	0.71783	2.557000	0.86248	0.563000	0.77884	GCT	MCC	-	NULL	ENSG00000171444		0.602	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0	30	0	C	NM_001085377		112399790	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	A	A	112399790	C	A	112399790	3	1	3	1	0	0	0	0	1	0	0	0	9411	768	27	2	979	2	MCC	5	112399790	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	43594506	112399790	68515470	78	725											
DMXL1	1657	genome.wustl.edu	37	chr5	118506593	118506595	+	In_Frame_Del	DEL	TTC	TTC	-																															atttagagcatgtttaaagaTtctcacagtagaacttcgta																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:118506593_118506595delTTC	ENST00000311085.8	+	24	6187_6189	c.6107_6109delTTC	c.(6106-6111)attctc>atc	p.L2037del	DMXL1_ENST00000539542.1_In_Frame_Del_p.L2037del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2037										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGTTTAAAGATTCTCACAGTAGA	0.345																																																	0																																										SO:0001651	inframe_deletion	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6107_6109delTTC	5.37:g.118506593_118506595delTTC	ENSP00000309690:p.Leu2037del			In_Frame_Del	DEL	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2037in_frame_del	ENST00000311085.8	37	c.6107_6109	CCDS4125.1	5																																																																																			DMXL1	-	NULL	ENSG00000172869		0.345	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1		0	49	0	TTC	NM_005509		118506595	1	tier1		no_errors	ENST00000539542	ensembl	human	known	74_37	in_frame_del	16.07	47	9	DEL	1.000:1.000:1.000	-	-	118506595	TTC	-	118506593	7	5	3	1	0	1	0	1	0	0	0	0	4608	1493	52	0	6201	0	DMXL1	5	118506593	In_Frame_Del	DEL	TTC	TCGA-2H-A9GH-01A-11D-A37C-09	6106803	118506593	62408667	79	726											
ZNF474	133923	genome.wustl.edu	37	chr5	121487982	121487982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattccgggtatgctatatCtgtggccgagaatttgggtc	7	13	14	7	2	1	1	0	0	1	1	3	3	2	2	2	4	1	2	2	4	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:121487982C>T	ENST00000296600.4	+	2	680	c.297C>T	c.(295-297)atC>atT	p.I99I	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA|CTC-441N14.1_ENST00000505209.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	99							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TATGCTATATCTGTGGCCGAG	0.488																																																	0													75	80	78					5																	121487982		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057483	CCDS4130.1	5q23.2	2008-02-05			ENSG00000164185	ENSG00000164185		"Zinc fingers, C2H2-type"	23245	protein-coding gene	gene with protein product							Standard	NM_207317		Approved	4933409D10Rik, FLJ32921	uc003ksv.3	Q6S9Z5	OTTHUMG00000128911	ENST00000296600.4:c.297C>T	5.37:g.121487982C>T			A8K4M0|Q96M07	Silent	SNP	pfscan_Znf_C2H2	p.I99	ENST00000296600.4	37	c.297	CCDS4130.1	5																																																																																			ZNF474	-	NULL	ENSG00000164185		0.488	ZNF474-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF474	HGNC	protein_coding	OTTHUMT00000250883.2	-	0	26	0	C	NM_207317		121487982	1	tier1	-	no_errors	ENST00000296600	ensembl	human	known	74_37	silent	20.00	12	3	SNP	1.000	T	T	121487982	C	T	121487982	2	4	3	1	0	0	0	0	0	0	0	1	17980	903	32	3		3	ZNF474	5	121487982	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	2981389	121487982	59427278	80	727											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221088	140221088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggcggagctggtgcCgcgcctgttccgggtggcgt	2	8	20	11	5	0	0	0	0	0	0	1	2	1	2	3	6	3	3	3	6	0	1	rs376513525	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:140221088C>T	ENST00000531613.1	+	1	182	c.182C>T	c.(181-183)cCg>cTg	p.P61L	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P61L|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGCGCCTGTTC	0.637																																																	0													38	50	46					5																	140221088		2203	4296	6499	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.182C>T	5.37:g.140221088C>T	ENSP00000434655:p.Pro61Leu		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P61L	ENST00000531613.1	37	c.182	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880274	0.72294	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.26660	1.72;1.72	3.95	3.95	0.45737	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.226637	0.22037	U	0.065506	T	0.30759	0.0775	M	0.72118	2.19	0.19775	N	0.999956	P;D	0.59357	0.938;0.985	B;B	0.40506	0.239;0.331	T	0.39583	-0.9607	10	0.87932	D	0	.	16.3451	0.83120	0.0:1.0:0.0:0.0	.	61;61	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	L	61	ENSP00000434655:P61L;ENSP00000367363:P61L	ENSP00000367363:P61L	P	+	2	0	PCDHA8	140201272	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	-0.108000	0.10857	1.905000	0.55150	0.557000	0.71058	CCG	PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204962		0.637	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0	126	0	C	NM_018911		140221088	1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	48.98	50	48	SNP	0.295	T	T	140221088	C	T	140221088	3	4	3	1	0	0	0	0	1	0	0	0	11569	652	23	1	184	1	PCDHA8	5	140221088	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	18733106	140221088	40694172	81	728											
PCDHA12	56137	genome.wustl.edu	37	chr5	140257282	140257282	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagcccacgctggtgtgctCcagcgccgtggggagttggt	5	8	16	12	3	0	0	0	0	0	0	1	1	1	1	3	4	3	3	3	4	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:140257282C>G	ENST00000398631.2	+	1	2225	c.2225C>G	c.(2224-2226)tCc>tGc	p.S742C	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	742	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTGCTCCAGCGCCGTG	0.682																																					Pancreas(113;759 1672 13322 24104 50104)												0													30	30	30					5																	140257282		2203	4300	6503	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2225C>G	5.37:g.140257282C>G	ENSP00000381628:p.Ser742Cys		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S742C	ENST00000398631.2	37	c.2225	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621284	0.28889	.	.	ENSG00000251664	ENST00000398631	T	0.18960	2.18	4.88	3.08	0.35506	.	.	.	.	.	T	0.40886	0.1135	H	0.94771	3.58	0.23406	N	0.997741	B;B	0.33583	0.302;0.418	B;B	0.39068	0.289;0.198	T	0.35500	-0.9786	9	0.52906	T	0.07	.	11.0964	0.48147	0.0:0.8484:0.0:0.1516	.	742;742	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	C	742	ENSP00000381628:S742C	ENSP00000381628:S742C	S	+	2	0	PCDHA12	140237466	0.279000	0.24239	0.984000	0.44739	0.110000	0.19582	-0.022000	0.12480	0.455000	0.26910	0.655000	0.94253	TCC	PCDHA12	-	NULL	ENSG00000251664		0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	72	0	C	NM_018903		140257282	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	42.86	32	24	SNP	0.999	G	G	140257282	C	G	140257282	3	3	3	1	0	0	0	0	1	0	0	0	11561	855	30	5	2227	5	PCDHA12	5	140257282	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	36194	140257282	40657978	82	729											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741034	140741034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccctgcacatctccgaCgtcaacgataatgccccagt	10	8	7	16	3	3	0	2	0	1	0	4	2	3	0	4	0	3	1	4	0	2	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:140741034C>T	ENST00000522605.1	+	1	1332	c.1332C>T	c.(1330-1332)gaC>gaT	p.D444D	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTCCGACGTCAACGATA	0.552																																																	0													105	109	108					5																	140741034		2069	4208	6277	SO:0001819	synonymous_variant	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1332C>T	5.37:g.140741034C>T			Q3MIJ3|Q9UN65	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D444	ENST00000522605.1	37	c.1332	CCDS54924.1	5																																																																																			PCDHGB2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253910		0.552	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	-	0	41	0	C	NM_018923		140741034	1	tier1	-	no_errors	ENST00000522605	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.760	T	T	140741034	C	T	140741034	2	4	3	1	0	0	0	0	0	0	0	1	11602	535	19	1		1	PCDHGB2	5	140741034	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	483752	140741034	40174226	83	730											
GABRA1	2554	genome.wustl.edu	37	chr5	161300175	161300175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaaggatgaaaggttaaAatttaaaggacctatgacag	17	9	11	4	0	0	2	0	2	0	0	0	5	0	5	1	4	0	1	1	4	7	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr5:161300175A>G	ENST00000428797.2	+	6	663	c.308A>G	c.(307-309)aAa>aGa	p.K103R	GABRA1_ENST00000023897.6_Missense_Mutation_p.K103R|GABRA1_ENST00000444819.1_Missense_Mutation_p.K103R|GABRA1_ENST00000420560.1_Missense_Mutation_p.K103R|GABRA1_ENST00000393943.4_Missense_Mutation_p.K103R|GABRA1_ENST00000437025.2_Missense_Mutation_p.K103R	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	103					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAAAGGTTAAAATTTAAAGGA	0.383																																																	0													90	95	93					5																	161300175		2203	4300	6503	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.308A>G	5.37:g.161300175A>G	ENSP00000393097:p.Lys103Arg		D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K103R	ENST00000428797.2	37	c.308	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807080	0.50421	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	N	0.16862	0.45	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.78861	-0.2037	10	0.30078	T	0.28	.	16.0549	0.80794	1.0:0.0:0.0:0.0	.	103	P14867	GBRA1_HUMAN	R	103	ENSP00000023897:K103R;ENSP00000393097:K103R;ENSP00000377517:K103R;ENSP00000415441:K103R;ENSP00000408041:K103R;ENSP00000414232:K103R;ENSP00000430435:K103R	ENSP00000023897:K103R	K	+	2	0	GABRA1	161232753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.294000	0.78760	2.193000	0.70182	0.477000	0.44152	AAA	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000022355		0.383	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2		0	59	0	A	NM_000806.5		161300175	1			no_errors	ENST00000023897	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G	G	161300175	A	G	161300175	3	3	3	1	0	0	0	0	1	0	0	0	6184	14	1	4	322	4	GABRA1	5	161300175	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	20559141	161300175	19615085	84	731											
ABCF1	23	genome.wustl.edu	37	chr6	30545853	30545854	+	Splice_Site	INS	-	-	A																															gttcttttgctctcagcagcINSaaaaaaaaaagcgagatacc																								rs555740367		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:30545853_30545854insA	ENST00000326195.8	+	4	329_330	c.217_218insA	c.(217-219)caa>cAaa	p.Q73fs	ABCF1_ENST00000376545.3_Splice_Site_p.Q73fs|ABCF1_ENST00000396515.4_Splice_Site_p.Q73fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTCTCAGCAGCAAAAAAAAAAG	0.495																																																	0																																										SO:0001630	splice_region_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.217-1->A	6.37:g.30545863_30545863dupA			A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K77fs	ENST00000326195.8	37	c.217_218	CCDS34380.1	6																																																																																			ABCF1	-	NULL	ENSG00000204574		0.495	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3		0	23	0	-		Frame_Shift_Ins	30545854	1	tier1		no_errors	ENST00000326195	ensembl	human	known	74_37	frame_shift_ins	11.54	23	3	INS	1.000:1.000	A	A	30545854	-	A	30545853	8	5	3	1	0	1	1	0	0	0	1	0	65	724	25	0	231	0	ABCF1	6	30545853	Splice_Site	INS	-	TCGA-2H-A9GH-01A-11D-A37C-09		30545853	140569214	85	732											
BAT2	7916	genome.wustl.edu	37	chr6	31599781	31599781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcagaaacaggcagcGagacccatgagagtgatctg	12	5	15	9	1	2	4	1	2	1	3	2	6	2	4	1	3	2	2	1	3	1	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:31599781G>T	ENST00000376033.2	+	16	3565	c.3331G>T	c.(3331-3333)Gag>Tag	p.E1111*	PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.E1111*	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1111	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AACAGGCAGCGAGACCCATGA	0.647																																																	0													41	55	50					6																	31599781		1507	2708	4215	SO:0001587	stop_gained	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3331G>T	6.37:g.31599781G>T	ENSP00000365201:p.Glu1111*		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Nonsense_Mutation	SNP	pfam_BAT2_N	p.E1111*	ENST00000376033.2	37	c.3331	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.774661	0.99465	.	.	ENSG00000204469	ENST00000376007;ENST00000376033;ENST00000376010	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.1364	17.8644	0.88792	0.0:0.0:1.0:0.0	.	.	.	.	X	1111;1111;336	.	ENSP00000365175:E1111X	E	+	1	0	PRRC2A	31707760	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	8.855000	0.92236	2.761000	0.94854	0.655000	0.94253	GAG	PRRC2A	-	NULL	ENSG00000204469		0.647	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1		0	42	0	G	NM_080686		31599781	1			no_errors	ENST00000376007	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T	T	31599781	G	T	31599781	4	4	3	1	0	0	0	0	0	1	0	0	1320	1059	37	2	3389	2	BAT2	6	31599781	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	1053928	31599781	139515286	86	733											
TNXB	7148	genome.wustl.edu	37	chr6	32011608	32011608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctcatagcgagcgcctggGatcagcccctggagtttctg	7	9	12	13	2	3	0	2	0	1	0	3	3	3	2	4	2	3	1	4	2	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:32011608G>A	ENST00000375244.3	-	35	11649	c.11448C>T	c.(11446-11448)atC>atT	p.I3816I	TNXB_ENST00000375247.2_Silent_p.I3814I|TNXB_ENST00000451343.1_Silent_p.I245I			P22105	TENX_HUMAN	tenascin XB	3861	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.I245I(1)|p.I3881I(1)|p.I3816I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGCGCCTGGGATCAGCCCCT	0.627																																																	3	Substitution - coding silent(3)	lung(3)											82	101	94					6																	32011608		1511	2709	4220	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.11448C>T	6.37:g.32011608G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.I3814	ENST00000375244.3	37	c.11442		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.627	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0	64	0	G	NM_019105		32011608	-1			no_errors	ENST00000375247	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.038	A	A	32011608	G	A	32011608	2	1	3	1	0	0	0	0	0	0	0	1	16393	1164	41	3		3	TNXB	6	32011608	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	411827	32011608	139103459	87	734											
SLC35B2	347734	genome.wustl.edu	37	chr6	44224423	44224423	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctttcttcacacaccGgtctccaggtagttcttccg	5	12	7	17	3	4	0	1	0	3	0	6	0	5	0	5	2	0	2	5	2	1	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:44224423G>T	ENST00000393812.3	-	2	347	c.204C>A	c.(202-204)acC>acA	p.T68T	SLC35B2_ENST00000538577.1_Splice_Site_p.P27Q|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Splice_Site_p.T68T|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	68					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCACACACCGGTCTCCAGGT	0.557																																																	0													123	133	129					6																	44224423		2203	4300	6503	SO:0001630	splice_region_variant	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.205+1C>A	6.37:g.44224423G>T			B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.P27Q	ENST00000393812.3	37	c.80	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	g	10.27	1.302549	0.23736	.	.	ENSG00000157593	ENST00000538577	T	0.27557	1.66	4.23	1.77	0.24775	.	.	.	.	.	T	0.03608	0.0103	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42816	-0.9429	8	0.02654	T	1	-19.715	6.7664	0.23568	0.1424:0.0:0.3103:0.5473	.	27	F5H7Y9	.	Q	27	ENSP00000443845:P27Q	ENSP00000443845:P27Q	P	-	2	0	SLC35B2	44332401	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.951000	0.40333	0.192000	0.20272	-1.608000	0.00805	CCG	SLC35B2	-	NULL	ENSG00000157593		0.557	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	-	0	68	0	G		Silent	44224423	-1	tier1	-	no_errors	ENST00000538577	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	44224423	G	T	44224423	5	4	3	1	0	0	0	0	0	0	1	0	14621	1130	39	2	1106	2	SLC35B2	6	44224423	Splice_Site	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	12212815	44224423	126890644	88	735											
TDRD6	221400	genome.wustl.edu	37	chr6	46656366	46656366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagggcaaggaggtgcaCgggtgcgtcctggacgtgct	6	8	17	10	3	1	0	1	0	0	0	2	2	2	2	1	5	3	3	1	5	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:46656366C>T	ENST00000316081.6	+	1	501	c.501C>T	c.(499-501)caC>caT	p.H167H	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Silent_p.H167H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	167					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGGAGGTGCACGGGTGCGTCC	0.701																																																	0													34	35	34					6																	46656366		2201	4298	6499	SO:0001819	synonymous_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.501C>T	6.37:g.46656366C>T			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.H167	ENST00000316081.6	37	c.501	CCDS34470.1	6																																																																																			TDRD6	-	NULL	ENSG00000180113		0.701	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0	44	0	C	XM_166443		46656366	1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	silent	66.67	9	18	SNP	0.634	T	T	46656366	C	T	46656366	2	4	3	1	0	0	0	0	0	0	0	1	15781	535	19	1		1	TDRD6	6	46656366	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	2431943	46656366	124458701	89	736											
OGFRL1	79627	genome.wustl.edu	37	chr6	72011406	72011406	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctctcgcctccagtcataAcagtcaaacttctatgcaca	11	10	4	16	1	4	0	2	0	2	0	6	0	5	0	3	0	3	1	3	0	3	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:72011406A>C	ENST00000370435.4	+	7	1144	c.1010A>C	c.(1009-1011)aAc>aCc	p.N337T	RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000423255.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	337						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TCCAGTCATAACAGTCAAACT	0.453																																																	0													45	50	48					6																	72011406		2203	4300	6503	SO:0001583	missense	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1010A>C	6.37:g.72011406A>C	ENSP00000359464:p.Asn337Thr		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.N337T	ENST00000370435.4	37	c.1010	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	A	6.039	0.375539	0.11409	.	.	ENSG00000119900	ENST00000370435	T	0.44482	0.92	6.04	-4.37	0.03633	.	0.660669	0.15468	N	0.260745	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.33343	-0.9872	10	0.20519	T	0.43	-4.4748	5.7963	0.18389	0.3614:0.0954:0.4445:0.0987	.	337	Q5TC84	OGRL1_HUMAN	T	337	ENSP00000359464:N337T	ENSP00000359464:N337T	N	+	2	0	OGFRL1	72068127	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.054000	0.14205	-1.080000	0.03109	-0.468000	0.05107	AAC	OGFRL1	-	NULL	ENSG00000119900		0.453	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	-	0	19	0	A	NM_024576		72011406	1	tier1	-	no_errors	ENST00000370435	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.000	C	C	72011406	A	C	72011406	3	2	3	1	0	0	0	0	1	0	0	0	10883	43	2	4	1036	4	OGFRL1	6	72011406	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	25355040	72011406	99103661	90	737											
KIAA0776	23376	genome.wustl.edu	37	chr6	96997405	96997405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcaagaagaagtttcaaaCctgtacaataacattaggtt	16	12	7	6	0	1	2	1	0	0	2	1	2	1	2	1	1	4	4	1	1	8	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:96997405C>G	ENST00000369278.4	+	14	1704	c.1638C>G	c.(1636-1638)aaC>aaG	p.N546K		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	546					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										AAGTTTCAAACCTGTACAATA	0.353																																																	0													65	63	64					6																	96997405		2203	4298	6501	SO:0001583	missense	0			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"novel LZAP-binding protein", "Regulator of CDK5RAP3 and DDRGK1"	613372	"KIAA0776"	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1638C>G	6.37:g.96997405C>G	ENSP00000358283:p.Asn546Lys		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	pfam_E3_UFM1_ligase_1	p.N546K	ENST00000369278.4	37	c.1638	CCDS5034.1	6	.	.	.	.	.	.	.	.	.	.	C	6.439	0.449158	0.12223	.	.	ENSG00000014123	ENST00000369278	T	0.42131	0.98	5.73	1.42	0.22433	.	0.040366	0.85682	D	0.000000	T	0.15739	0.0379	M	0.73598	2.24	0.39909	D	0.974004	P	0.38922	0.651	B	0.27887	0.084	T	0.22312	-1.0220	10	0.09590	T	0.72	-19.3817	10.2456	0.43339	0.0:0.6279:0.0:0.372	.	546	O94874	UFL1_HUMAN	K	546	ENSP00000358283:N546K	ENSP00000358283:N546K	N	+	3	2	KIAA0776	97104126	0.997000	0.39634	0.841000	0.33234	0.958000	0.62258	0.620000	0.24403	0.341000	0.23771	-0.145000	0.13849	AAC	UFL1	-	NULL	ENSG00000014123		0.353	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFL1	HGNC	protein_coding	OTTHUMT00000041557.1	-	0	60	0	C	NM_015323		96997405	1	tier1	-	no_errors	ENST00000369278	ensembl	human	known	74_37	missense	44.64	29	25	SNP	0.957	G	G	96997405	C	G	96997405	3	3	3	1	0	0	0	0	1	0	0	0	8220	506	18	5	1692	5	KIAA0776	6	96997405	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	24985999	96997405	74117662	91	738											
MED23	9439	genome.wustl.edu	37	chr6	131915385	131915385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcagagagccaatgatcGcatggacgagttttcgtttg	9	12	11	9	3	1	2	1	1	0	1	3	5	1	3	2	1	1	3	2	1	1	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:131915385G>A	ENST00000368068.3	-	23	3265	c.3086C>T	c.(3085-3087)gCg>gTg	p.A1029V	MED23_ENST00000545957.1_Missense_Mutation_p.A670V|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Missense_Mutation_p.A1029V|MED23_ENST00000368058.1_Missense_Mutation_p.A1035V|MED23_ENST00000354577.4_Missense_Mutation_p.A1035V|MED23_ENST00000403834.3_Missense_Mutation_p.A1035V	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1029					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCCAATGATCGCATGGACGAG	0.463																																																	0													116	97	103					6																	131915385		2203	4300	6503	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3086C>T	6.37:g.131915385G>A	ENSP00000357047:p.Ala1029Val		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.A1035V	ENST00000368068.3	37	c.3104	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672821	0.88445	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	L	0.43923	1.385	0.80722	D	1	B;D;D	0.59767	0.157;0.986;0.982	B;P;P	0.54100	0.047;0.742;0.625	T	0.74842	-0.3527	10	0.41790	T	0.15	-16.9564	20.8794	0.99867	0.0:0.0:1.0:0.0	.	670;1029;1035	B4E3G4;Q9ULK4;Q9ULK4-3	.;MED23_HUMAN;.	V	1035;1029;1035;1029;1035;670	ENSP00000346588:A1035V;ENSP00000357047:A1029V;ENSP00000384536:A1035V;ENSP00000357039:A1029V;ENSP00000357037:A1035V;ENSP00000439977:A670V	ENSP00000346588:A1035V	A	-	2	0	MED23	131957078	1.000000	0.71417	0.968000	0.41197	0.930000	0.56654	9.553000	0.98118	2.941000	0.99782	0.655000	0.94253	GCG	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.463	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	-	0	34	0	G			131915385	-1	tier1	-	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	131915385	G	A	131915385	3	1	3	1	0	0	0	0	1	0	0	0	9479	1087	38	1	1055	1	MED23	6	131915385	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	34917980	131915385	39199682	92	739											
ENPP3	5169	genome.wustl.edu	37	chr6	132004266	132004266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaagcagcggaatttgCacaactgtgtcaatatcatc	12	10	9	10	1	2	1	2	1	0	0	3	2	2	2	1	1	4	2	1	1	5	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:132004266C>T	ENST00000414305.1	+	13	1412	c.1084C>T	c.(1084-1086)Cac>Tac	p.H362Y	ENPP3_ENST00000357639.3_Missense_Mutation_p.H362Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.H362Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	362	Phosphodiesterase.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCGGAATTTGCACAACTGTGT	0.343																																																	0													209	194	199					6																	132004266		2203	4300	6503	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1084C>T	6.37:g.132004266C>T	ENSP00000406261:p.His362Tyr		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.H362Y	ENST00000414305.1	37	c.1084	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043195	0.75732	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.71934	-0.61;-0.61;-0.61	5.7	3.9	0.45041	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.329726	0.28865	N	0.013884	T	0.68375	0.2994	L	0.39397	1.21	0.80722	D	1	P	0.50272	0.933	P	0.57009	0.811	T	0.73212	-0.4054	10	0.66056	D	0.02	-0.9384	17.7126	0.88326	0.0:0.8555:0.1445:0.0	.	362	O14638	ENPP3_HUMAN	Y	362	ENSP00000406261:H362Y;ENSP00000350265:H362Y;ENSP00000350964:H362Y	ENSP00000350265:H362Y	H	+	1	0	ENPP3	132045959	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.653000	0.54446	0.724000	0.32296	0.650000	0.86243	CAC	ENPP3	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000154269		0.343	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2		0	56	0	C			132004266	1			no_errors	ENST00000357639	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T	T	132004266	C	T	132004266	3	4	3	1	0	0	0	0	1	0	0	0	5147	710	25	3	1130	3	ENPP3	6	132004266	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	88881	132004266	39110801	93	740											
MAS1	4142	genome.wustl.edu	37	chr6	160328869	160328869	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagagattcaaggagtcCttaaaagttgttctgaccag	15	10	10	6	0	2	3	1	1	1	2	3	5	3	4	2	1	0	2	2	1	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr6:160328869C>A	ENST00000252660.4	+	1	896	c.882C>A	c.(880-882)tcC>tcA	p.S294S		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	294					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCAAGGAGTCCTTAAAAGTTG	0.438																																																	0													90	93	92					6																	160328869		2203	4300	6503	SO:0001819	synonymous_variant	0			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.882C>A	6.37:g.160328869C>A			E1P5B3|Q2TBC9|Q6FG47	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn	p.S294	ENST00000252660.4	37	c.882	CCDS5272.1	6																																																																																			MAS1	-	prints_Proto-oncogene_Mas	ENSG00000130368		0.438	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1	HGNC	protein_coding	OTTHUMT00000042930.2	-	0	31	0	C	NM_002377		160328869	1	tier1	-	no_errors	ENST00000252660	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.986	A	A	160328869	C	A	160328869	2	1	3	1	0	0	0	0	0	0	0	1	9358	668	24	3		3	MAS1	6	160328869	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	28324603	160328869	10786198	94	741											
SDK1	221935	genome.wustl.edu	37	chr7	4119167	4119167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccacccttcagttccggcCaggctatgacgggaaaacgt	9	7	11	14	4	1	1	1	1	0	0	2	2	2	2	4	3	1	2	4	3	3	3	rs148455510	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:4119167C>T	ENST00000404826.2	+	22	3414	c.3275C>T	c.(3274-3276)cCa>cTa	p.P1092L	SDK1_ENST00000389531.3_Missense_Mutation_p.P1092L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1092	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGTTCCGGCCAGGCTATGAC	0.577																																																	0													153	137	142					7																	4119167		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3275C>T	7.37:g.4119167C>T	ENSP00000385899:p.Pro1092Leu		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1092L	ENST00000404826.2	37	c.3275	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691065	0.88735	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.61510	0.1;0.1	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.74450	0.3718	M	0.92970	3.365	0.80722	D	1	P;B	0.38300	0.626;0.153	P;B	0.44561	0.453;0.146	T	0.81291	-0.0999	10	0.72032	D	0.01	.	18.4917	0.90851	0.0:1.0:0.0:0.0	.	1092;1092	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	L	1092	ENSP00000385899:P1092L;ENSP00000374182:P1092L	ENSP00000374182:P1092L	P	+	2	0	SDK1	4085693	1.000000	0.71417	0.326000	0.25389	0.973000	0.67179	7.592000	0.82676	2.359000	0.80004	0.655000	0.94253	CCA	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	105	0	C	NM_152744		4119167	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.989	T	T	4119167	C	T	4119167	3	4	3	1	0	0	0	0	1	0	0	0	14013	594	21	3	3361	3	SDK1	7	4119167	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09		4119167	155019496	95	742											
THSD7A	221981	genome.wustl.edu	37	chr7	11501765	11501765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgcttcctgatactggAgtcccctgcaatgaagcagt	10	10	10	11	0	0	3	0	2	0	1	2	4	2	4	3	1	4	3	3	1	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:11501765A>G	ENST00000423059.4	-	10	2625	c.2374T>C	c.(2374-2376)Tcc>Ccc	p.S792P	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	792	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGATACTGGAGTCCCCTGCA	0.478										HNSCC(18;0.044)																																							0													79	79	79					7																	11501765		1934	4126	6060	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2374T>C	7.37:g.11501765A>G	ENSP00000406482:p.Ser792Pro			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S792P	ENST00000423059.4	37	c.2374	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090735	0.36855	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59772	0.24	5.34	-0.142	0.13448	.	1.094480	0.06619	N	0.756999	T	0.49745	0.1575	L	0.44542	1.39	0.09310	N	1	B	0.31599	0.33	B	0.37480	0.251	T	0.44636	-0.9315	10	0.30078	T	0.28	.	6.2806	0.21005	0.2798:0.3933:0.0:0.3269	.	792	Q9UPZ6	THS7A_HUMAN	P	792	ENSP00000406482:S792P	ENSP00000262042:S792P	S	-	1	0	THSD7A	11468290	0.000000	0.05858	0.007000	0.13788	0.926000	0.56050	0.593000	0.23999	0.169000	0.19679	0.528000	0.53228	TCC	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.478	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4		0	20	0	A	XM_928187.2		11501765	-1			no_errors	ENST00000423059	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.001	G	G	11501765	A	G	11501765	3	3	3	1	0	0	0	0	1	0	0	0	15926	304	11	4	2671	4	THSD7A	7	11501765	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	7382598	11501765	147636898	96	743											
DFNA5	1687	genome.wustl.edu	37	chr7	24789377	24789377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctctaagaaaattcctgGttgctttggcaaacattttg	10	16	7	8	0	1	1	0	0	1	1	3	1	2	1	1	2	2	3	1	2	4	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:24789377G>A	ENST00000342947.3	-	2	442	c.17C>T	c.(16-18)aCc>aTc	p.T6I	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.T6I|DFNA5_ENST00000419307.1_Intron|DFNA5_ENST00000409970.1_Intron	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	6					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAAATTCCTGGTTGCTTTGGC	0.338																																					GBM(78;184 1250 20134 20900 23600)												0													92	98	96					7																	24789377		2203	4300	6503	SO:0001583	missense	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.17C>T	7.37:g.24789377G>A	ENSP00000339587:p.Thr6Ile		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	pfam_Gasdermin	p.T6I	ENST00000342947.3	37	c.17	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531593	0.85706	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.33216	1.42;1.42	5.54	5.54	0.83059	.	0.089523	0.85682	D	0.000000	T	0.61073	0.2318	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65142	-0.6240	10	0.87932	D	0	-15.4332	19.4795	0.95003	0.0:0.0:1.0:0.0	.	6;6	A4FTY0;O60443	.;DFNA5_HUMAN	I	6	ENSP00000339587:T6I;ENSP00000386670:T6I	ENSP00000339587:T6I	T	-	2	0	DFNA5	24755902	1.000000	0.71417	0.992000	0.48379	0.900000	0.52787	8.335000	0.90031	2.606000	0.88127	0.655000	0.94253	ACC	DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.338	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2	-	0	33	0	G	NM_004403		24789377	-1	tier1	-	no_errors	ENST00000342947	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	A	A	24789377	G	A	24789377	3	1	3	1	0	0	0	0	1	0	0	0	4468	1261	44	3	1509	3	DFNA5	7	24789377	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	13287612	24789377	134349286	97	744											
VWC2	375567	genome.wustl.edu	37	chr7	49815551	49815551	+	Frame_Shift_Del	DEL	T	T	-																															agaagttcgcgccgggccccTcggcctgcccgtgcctgtgc																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:49815551delT	ENST00000340652.4	+	2	1076	c.520delT	c.(520-522)tcgfs	p.S174fs		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	174	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GCCGGGCCCCTCGGCCTGCCC	0.716																																																	0													9	10	10					7																	49815551		2150	4214	6364	SO:0001589	frameshift_variant	0			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.520delT	7.37:g.49815551delT	ENSP00000341819:p.Ser174fs		Q6UXE2	Frame_Shift_Del	DEL	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.S174fs	ENST00000340652.4	37	c.520	CCDS5508.1	7																																																																																			VWC2	-	smart_VWF_C	ENSG00000188730		0.716	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2	HGNC	protein_coding	OTTHUMT00000251375.2		0	8	0	T	NM_198570		49815551	1			no_errors	ENST00000340652	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	0	-	49815551	T	-	49815551	7	5	3	1	0	1	0	1	0	0	0	0	17292	1551	54	0	522	0	VWC2	7	49815551	Frame_Shift_Del	DEL	T	TCGA-2H-A9GH-01A-11D-A37C-09	25026174	49815551	109323112	98	745											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86547820	86547820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaaatgttattcttcCtagttcagaacccgtggctc	12	12	7	10	1	2	2	1	0	1	2	4	2	3	2	2	1	1	3	2	1	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:86547820C>T	ENST00000450689.2	-	12	1716	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G271R|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G344R|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G511R	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	511						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GTTATTCTTCCTAGTTCAGAA	0.383																																																	0													132	112	119					7																	86547820		2203	4300	6503	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1531G>A	7.37:g.86547820C>T	ENSP00000413445:p.Gly511Arg		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.G511R	ENST00000450689.2	37	c.1531	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.798508|4.798508	0.90538|0.90538	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78246|0.78246	0.4253|0.4253	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.991;1.0;1.0|.	T|T	0.77109|0.77109	-0.2709|-0.2709	10|5	0.87932|.	D|.	0|.	.|.	19.1274|19.1274	0.93391|0.93391	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	511;271;344|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	R|K	511;271;511;344|471	ENSP00000413445:G511R;ENSP00000297222:G271R;ENSP00000397377:G511R;ENSP00000402390:G344R|.	ENSP00000297222:G271R|.	G|R	-|-	1|2	0|0	KIAA1324L|KIAA1324L	86385756|86385756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.910000|5.910000	0.69931|0.69931	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	GGA|AGG	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.383	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	67	0	C	NM_152748		86547820	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	24.59	46	15	SNP	1.000	T	T	86547820	C	T	86547820	3	4	3	1	0	0	0	0	1	0	0	0	8251	690	24	3	1602	3	KIAA1324L	7	86547820	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	36732269	86547820	72590843	99	746											
SAMD9L	219285	genome.wustl.edu	37	chr7	92762366	92762366	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatattctgcaacttctgtTtttattagaagtgtagaata	12	17	6	6	0	2	2	0	0	2	2	2	2	2	2	1	0	2	3	1	0	8	9			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:92762366T>G	ENST00000318238.4	-	5	4135	c.2919A>C	c.(2917-2919)aaA>aaC	p.K973N	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K973N|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K973N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	973					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACTTCTGTTTTTATTAGAA	0.398																																																	0													86	82	84					7																	92762366		2203	4300	6503	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2919A>C	7.37:g.92762366T>G	ENSP00000326247:p.Lys973Asn		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.K973N	ENST00000318238.4	37	c.2919	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	T	2.943	-0.218557	0.06101	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.23147	1.92;1.92;1.92	5.22	-8.24	0.01029	.	1.554220	0.03614	N	0.235360	T	0.08268	0.0206	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20140	-1.0284	10	0.19590	T	0.45	-0.0769	3.9454	0.09346	0.2419:0.063:0.4905:0.2046	.	973	Q8IVG5	SAM9L_HUMAN	N	973	ENSP00000326247:K973N;ENSP00000405760:K973N;ENSP00000408796:K973N	ENSP00000326247:K973N	K	-	3	2	SAMD9L	92600302	0.000000	0.05858	0.720000	0.30636	0.033000	0.12548	-2.034000	0.01424	-0.968000	0.03578	-0.644000	0.03951	AAA	SAMD9L	-	NULL	ENSG00000177409		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	41	0	T	NM_152703		92762366	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	14.81	69	12	SNP	0.000	G	G	92762366	T	G	92762366	3	3	3	1	0	0	0	0	1	0	0	0	13872	1838	64	4	1839	4	SAMD9L	7	92762366	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	6214546	92762366	66376297	100	747											
STAG3	10734	genome.wustl.edu	37	chr7	99801705	99801705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagagcaaggcagattgaccGaagtcattgttcccgaatcc	12	9	10	10	2	1	3	1	1	0	2	3	5	3	3	3	1	1	3	3	1	4	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:99801705G>A	ENST00000426455.1	+	26	3169	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q	STAG3_ENST00000317296.5_Missense_Mutation_p.R921Q|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Missense_Mutation_p.R863Q|GATS_ENST00000436886.2_Intron|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	921					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.R921Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGATTGACCGAAGTCATTGT	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											166	135	145					7																	99801705		2203	4300	6503	SO:0001583	missense	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2762G>A	7.37:g.99801705G>A	ENSP00000400359:p.Arg921Gln		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R921Q	ENST00000426455.1	37	c.2762	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	.	18.41	3.618467	0.66787	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.22743	1.94;1.94;1.94	5.71	4.83	0.62350	.	0.174834	0.26944	N	0.021716	T	0.26159	0.0638	L	0.46614	1.455	0.80722	D	1	B;D;P	0.63046	0.243;0.992;0.676	B;P;B	0.50570	0.09;0.644;0.139	T	0.02238	-1.1190	10	0.87932	D	0	-7.404	8.9533	0.35803	0.167:0.0:0.833:0.0	.	863;921;921	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	Q	921;863;921	ENSP00000400359:R921Q;ENSP00000377586:R863Q;ENSP00000319318:R921Q	ENSP00000319318:R921Q	R	+	2	0	STAG3	99639641	0.992000	0.36948	0.884000	0.34674	0.911000	0.54048	2.625000	0.46452	1.428000	0.47296	0.655000	0.94253	CGA	STAG3	-	NULL	ENSG00000066923		0.507	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	-	0	32	0	G	NM_012447		99801705	1	tier1	-	no_errors	ENST00000317296	ensembl	human	known	74_37	missense	19.48	62	15	SNP	0.960	A	A	99801705	G	A	99801705	3	1	3	1	0	0	0	0	1	0	0	0	15291	1058	37	1	2860	1	STAG3	7	99801705	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7039339	99801705	59336958	101	748											
LRCH4	4034	genome.wustl.edu	37	chr7	100173586	100173586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccccactggccagagcctCggccaggtcctcaggcaggg	7	4	14	16	1	1	1	1	0	0	1	3	2	2	1	6	5	1	1	6	5	0	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:100173586C>T	ENST00000310300.6	-	16	1736	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	LRCH4_ENST00000497245.1_Missense_Mutation_p.E110K|SAP25_ENST00000538735.1_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	562	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGAGCCTCGGCCAGGTCC	0.667																																																	0													13	15	14					7																	100173586		2197	4293	6490	SO:0001583	missense	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.1684G>A	7.37:g.100173586C>T	ENSP00000309689:p.Glu562Lys		A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.E562K	ENST00000310300.6	37	c.1684	CCDS34706.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.376644|4.376644	0.82682|0.82682	.|.	.|.	ENSG00000077454|ENSG00000077454	ENST00000422462|ENST00000310300;ENST00000497245	.|D;D	.|0.94723	.|-3.5;-3.5	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Calponin homology domain (5);	.|0.119823	.|0.56097	.|D	.|0.000037	.|D	.|0.95198	.|0.8443	L|L	0.59912|0.59912	1.85|1.85	0.47214|0.47214	D|D	0.999353|0.999353	.|D;D	.|0.67145	.|0.996;0.98	.|P;B	.|0.58130	.|0.833;0.43	.|D	.|0.95090	.|0.8221	.|10	.|0.66056	.|D	.|0.02	.|-22.4403	12.724|12.724	0.57159|0.57159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|110;562	.|C9JYK0;O75427	.|.;LRCH4_HUMAN	.|K	-1|562;110	.|ENSP00000309689:E562K;ENSP00000419870:E110K	.|ENSP00000309689:E562K	.|E	-|-	.|1	.|0	LRCH4|LRCH4	100011522|100011522	0.405000|0.405000	0.25336|0.25336	0.904000|0.904000	0.35570|0.35570	0.975000|0.975000	0.68041|0.68041	5.346000|5.346000	0.65992|0.65992	2.463000|2.463000	0.83235|0.83235	0.555000|0.555000	0.69702|0.69702	.|GAG	LRCH4	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000077454		0.667	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	-	0	61	0	C	NM_002319		100173586	-1	tier1	-	no_errors	ENST00000310300	ensembl	human	known	74_37	missense	21.43	77	21	SNP	0.967	T	T	100173586	C	T	100173586	3	4	3	1	0	0	0	0	1	0	0	0	8970	893	31	1	379	1	LRCH4	7	100173586	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	371881	100173586	58965077	102	749											
THAP5	168451	genome.wustl.edu	37	chr7	108205425	108205425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgatggggcacatctGtgttaactatatttttcttt	8	19	9	5	0	2	1	0	1	2	0	2	2	2	1	0	2	1	3	0	2	3	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:108205425G>C	ENST00000415914.3	-	3	551	c.398C>G	c.(397-399)aCa>aGa	p.T133R	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Missense_Mutation_p.T91R|THAP5_ENST00000438865.1_3'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	133					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						GGGCACATCTGTGTTAACTAT	0.358																																																	0													235	179	196					7																	108205425		692	1590	2282	SO:0001583	missense	0			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.398C>G	7.37:g.108205425G>C	ENSP00000400500:p.Thr133Arg			Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.T133R	ENST00000415914.3	37	c.398	CCDS47687.1	7	.	.	.	.	.	.	.	.	.	.	G	0.994	-0.693049	0.03303	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96651	-4.08;-2.59	4.17	-1.22	0.09494	.	.	.	.	.	D	0.90061	0.6896	L	0.27053	0.805	0.09310	N	0.999999	B	0.24186	0.099	B	0.24701	0.055	T	0.79764	-0.1666	8	.	.	.	.	4.3827	0.11302	0.2275:0.0:0.4911:0.2814	.	133	Q7Z6K1	THAP5_HUMAN	R	133;91	ENSP00000400500:T133R;ENSP00000322440:T91R	.	T	-	2	0	THAP5	107992661	0.084000	0.21492	0.000000	0.03702	0.002000	0.02628	1.154000	0.31688	-0.377000	0.07930	-0.808000	0.03180	ACA	THAP5	-	NULL	ENSG00000177683		0.358	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	HGNC	protein_coding	OTTHUMT00000337777.2	-	0	94	0	G	NM_182529		108205425	-1	tier1	-	no_errors	ENST00000415914	ensembl	human	known	74_37	missense	13.92	136	22	SNP	0.001	C	C	108205425	G	C	108205425	3	2	3	1	0	0	0	0	1	0	0	0	15894	1377	48	5	793	5	THAP5	7	108205425	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	8031839	108205425	50933238	103	750											
CFTR	1080	genome.wustl.edu	37	chr7	117180247	117180247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtggtgtttttatcTgtgcttccctatgcactaat	5	21	7	8	0	2	0	0	0	2	0	3	0	3	0	1	1	2	3	1	1	3	8			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:117180247T>C	ENST00000003084.6	+	8	1095	c.963T>C	c.(961-963)tcT>tcC	p.S321S	CFTR_ENST00000454343.1_Silent_p.S321S	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	321	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGTTTTTATCTGTGCTTCCCT	0.438									Cystic Fibrosis																																								0													173	155	161					7																	117180247		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.963T>C	7.37:g.117180247T>C			Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.S321	ENST00000003084.6	37	c.963	CCDS5773.1	7																																																																																			CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel	ENSG00000001626		0.438	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0	75	0	T	NM_000492		117180247	1			no_errors	ENST00000003084	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.991	C	C	117180247	T	C	117180247	2	2	3	1	0	0	0	0	0	0	0	1	3301	1567	55	4		4	CFTR	7	117180247	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	8974822	117180247	41958416	104	751											
HIPK2	28996	genome.wustl.edu	37	chr7	139268762	139268762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggagtagggggagtcGtggactgtgacacagctgat	9	8	18	6	2	0	2	0	2	0	0	2	6	0	5	0	4	1	2	0	4	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:139268762G>A	ENST00000406875.3	-	13	2860	c.2766C>T	c.(2764-2766)caC>caT	p.H922H	HIPK2_ENST00000428878.2_Silent_p.H895H|HIPK2_ENST00000342645.6_Silent_p.H822H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	922	Interaction with TP53 and TP73.|Required for localization to nuclear speckles. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGGGGAGTCGTGGACTGTGA	0.562																																																	0													126	135	132					7																	139268762		2120	4223	6343	SO:0001819	synonymous_variant	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2766C>T	7.37:g.139268762G>A			Q75MR7|Q8WWI4|Q9H2Y1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H922	ENST00000406875.3	37	c.2766		7																																																																																			HIPK2	-	NULL	ENSG00000064393		0.562	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3		0	39	0	G	NM_022740		139268762	-1			no_errors	ENST00000406875	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.991	A	A	139268762	G	A	139268762	2	1	3	1	0	0	0	0	0	0	0	1	7144	1136	40	1		1	HIPK2	7	139268762	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	22088515	139268762	19869901	105	752											
KEL	3792	genome.wustl.edu	37	chr7	142639567	142639567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggctgaggtccaggCtgggcaggacagtctcccca	6	6	17	12	0	1	1	0	1	1	0	3	2	2	2	3	6	0	4	3	6	0	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:142639567C>T	ENST00000355265.2	-	18	2465	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	664					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGGTCCAGGCTGGGCAGGAC	0.592																																																	0													56	39	45					7																	142639567		2203	4300	6503	SO:0001583	missense	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1991G>A	7.37:g.142639567C>T	ENSP00000347409:p.Ser664Asn		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.S664N	ENST00000355265.2	37	c.1991	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	C	0.190	-1.054477	0.01965	.	.	ENSG00000197993	ENST00000355265	D	0.90069	-2.61	4.34	-2.34	0.06704	Peptidase M13, neprilysin, C-terminal (1);	0.658227	0.13943	N	0.352063	T	0.69663	0.3136	N	0.02357	-0.585	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59069	-0.7523	10	0.37606	T	0.19	-6.2289	9.0078	0.36122	0.0:0.5504:0.0:0.4496	.	664	P23276	KELL_HUMAN	N	664	ENSP00000347409:S664N	ENSP00000347409:S664N	S	-	2	0	KEL	142349689	0.000000	0.05858	0.002000	0.10522	0.273000	0.26683	-1.533000	0.02215	-0.335000	0.08451	-0.137000	0.14449	AGC	KEL	-	pfam_Peptidase_M13_C	ENSG00000197993		0.592	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2		0	55	0	C	NM_000420		142639567	-1			no_errors	ENST00000355265	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.003	T	T	142639567	C	T	142639567	3	4	3	1	0	0	0	0	1	0	0	0	8169	797	28	3	215	3	KEL	7	142639567	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	3370805	142639567	16499096	106	753											
NUB1	51667	genome.wustl.edu	37	chr7	151074157	151074157	+	Frame_Shift_Del	DEL	A	A	-																															ctctagtgcctcaacagacgAagacatggagacagaggccg																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:151074157delA	ENST00000355851.4	+	15	1771	c.1694delA	c.(1693-1695)gaafs	p.E565fs	NUB1_ENST00000568733.1_Frame_Shift_Del_p.E589fs|WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000413040.2_Frame_Shift_Del_p.E575fs|NUB1_ENST00000566856.1_Frame_Shift_Del_p.E551fs	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	565	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCAACAGACGAAGACATGGAG	0.443																																																	0													58	57	58					7																	151074157		1903	4121	6024	SO:0001589	frameshift_variant	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1694delA	7.37:g.151074157delA	ENSP00000348110:p.Glu565fs		O95422|Q75MR9|Q8IX22|Q9BXR2	Frame_Shift_Del	DEL	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.D590fs	ENST00000355851.4	37	c.1766		7																																																																																			NUB1	-	NULL	ENSG00000013374		0.443	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding			0	52	0	A	NM_016118		151074157	1	tier1		no_errors	ENST00000568733	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	1.000	-	-	151074157	A	-	151074157	7	5	3	1	0	1	0	1	0	0	0	0	10753	246	9	0	1706	0	NUB1	7	151074157	Frame_Shift_Del	DEL	A	TCGA-2H-A9GH-01A-11D-A37C-09	8434590	151074157	8064506	107	754											
MLL3	58508	genome.wustl.edu	37	chr7	151935808	151935808	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccactttgatgctccaaAtggcactgccaggaagctgc	10	10	9	12	0	0	1	0	1	0	0	1	2	1	2	3	2	5	3	3	2	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr7:151935808A>C	ENST00000262189.6	-	15	2854	c.2636T>G	c.(2635-2637)aTt>aGt	p.I879S	KMT2C_ENST00000355193.2_Missense_Mutation_p.I879S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	879					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATGCTCCAAATGGCACTGCC	0.403																																																	0													30	32	31					7																	151935808		2166	4269	6435	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2636T>G	7.37:g.151935808A>C	ENSP00000262189:p.Ile879Ser		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.I879S	ENST00000262189.6	37	c.2636	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	A	14.34	2.505936	0.44558	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83250	-1.7;-1.7	5.53	5.53	0.82687	.	0.000000	0.44688	D	0.000431	T	0.72606	0.3481	N	0.22421	0.69	0.80722	D	1	P	0.48764	0.915	B	0.42062	0.374	T	0.74624	-0.3603	10	0.44086	T	0.13	.	11.0954	0.48141	0.8619:0.0:0.0:0.1381	.	879	Q8NEZ4	MLL3_HUMAN	S	879	ENSP00000262189:I879S;ENSP00000347325:I879S	ENSP00000262189:I879S	I	-	2	0	MLL3	151566741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.343000	0.65976	2.219000	0.72066	0.528000	0.53228	ATT	KMT2C	-	NULL	ENSG00000055609		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3		0	192	0	A			151935808	-1			no_errors	ENST00000355193	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	C	C	151935808	A	C	151935808	3	2	3	1	0	0	0	0	1	0	0	0	9660	101	4	4	12279	4	MLL3	7	151935808	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	861651	151935808	7202855	108	755											
DLC1	10395	genome.wustl.edu	37	chr8	13357027	13357027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcttttacttatagagTcagtaacttttctctcccca	9	15	5	12	0	2	1	1	0	1	1	4	1	3	1	3	1	2	2	3	1	4	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:13357027T>A	ENST00000276297.4	-	2	963	c.554A>T	c.(553-555)gAc>gTc	p.D185V	DLC1_ENST00000316609.5_Missense_Mutation_p.D185V|DLC1_ENST00000511869.1_Missense_Mutation_p.D185V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	185					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACTTATAGAGTCAGTAACTTT	0.378																																																	0													118	123	121					8																	13357027		2203	4299	6502	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.554A>T	8.37:g.13357027T>A	ENSP00000276297:p.Asp185Val		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.D185V	ENST00000276297.4	37	c.554	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	T	8.625	0.892379	0.17613	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.28895	1.59;1.59;1.59	5.12	1.51	0.23008	.	0.454923	0.18635	N	0.135479	T	0.37732	0.1014	L	0.43923	1.385	0.22896	N	0.998593	P;D;P	0.63880	0.853;0.993;0.664	P;P;B	0.59424	0.628;0.857;0.216	T	0.10245	-1.0638	10	0.72032	D	0.01	.	7.768	0.28991	0.0:0.4008:0.0:0.5992	.	185;185;185	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	V	185	ENSP00000276297:D185V;ENSP00000321034:D185V;ENSP00000425878:D185V	ENSP00000276297:D185V	D	-	2	0	DLC1	13401398	0.068000	0.21057	0.033000	0.17914	0.027000	0.11550	0.934000	0.28910	0.493000	0.27837	-0.264000	0.10439	GAC	DLC1	-	NULL	ENSG00000164741		0.378	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0	33	0	T	NM_182643, NM_006094		13357027	-1			no_errors	ENST00000276297	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.042	A	A	13357027	T	A	13357027	3	1	3	1	0	0	0	0	1	0	0	0	4564	1667	58	5	4185	5	DLC1	8	13357027	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09		13357027	133006995	109	756											
ADAM7	8756	genome.wustl.edu	37	chr8	24348310	24348310	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttgtggttattgccAggagtgtactaatccttgct	6	18	9	8	0	1	0	0	0	1	0	3	1	2	1	2	2	3	3	2	2	3	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:24348310A>G	ENST00000175238.6	+	13	1349		c.e13-1		RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GGTTATTGCCAGGAGTGTACT	0.398																																																	0													210	198	202					8																	24348310		2203	4300	6503	SO:0001630	splice_region_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1267-1A>G	8.37:g.24348310A>G			A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	-	e13-2	ENST00000175238.6	37	c.1267-2	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	A	19.39	3.817997	0.71028	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1241	0.65208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24404200	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	7.320000	0.79064	2.279000	0.76181	0.533000	0.62120	.	ADAM7	-	-	ENSG00000069206		0.398	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1		0	66	0	A	NM_003817	Intron	24348310	1			no_errors	ENST00000175238	ensembl	human	known	74_37	splice_site	7.14	26	2	SNP	0.999	G	G	24348310	A	G	24348310	5	3	3	1	0	0	0	0	0	0	1	0	251	202	7	4	1315	4	ADAM7	8	24348310	Splice_Site	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	10991283	24348310	122015712	110	757											
EBF2	64641	genome.wustl.edu	37	chr8	25715895	25715895	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgaacctggaacacccaAgttggccatggggacattgc	10	8	13	10	0	0	1	0	1	0	0	0	3	0	3	3	5	3	1	3	5	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:25715895A>C	ENST00000520164.1	-	14	2005	c.1468T>G	c.(1468-1470)Ttg>Gtg	p.L490V	EBF2_ENST00000408929.3_Missense_Mutation_p.L342V|EBF2_ENST00000535548.1_Missense_Mutation_p.L221V	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	490	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GGAACACCCAAGTTGGCCATG	0.507																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													145	146	146					8																	25715895		1998	4164	6162	SO:0001583	missense	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1468T>G	8.37:g.25715895A>C	ENSP00000430241:p.Leu490Val		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.L490V	ENST00000520164.1	37	c.1468	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329936	0.41297	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.51325	0.71;0.71;0.71	5.43	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.70595	2.14	0.51233	D	0.999916	D	0.59357	0.985	P	0.57244	0.816	T	0.58509	-0.7624	10	0.41790	T	0.15	-7.2081	11.3962	0.49843	0.1476:0.0:0.8524:0.0	.	490	Q9HAK2	COE2_HUMAN	V	490;342;221	ENSP00000430241:L490V;ENSP00000386178:L342V;ENSP00000437909:L221V	ENSP00000386178:L342V	L	-	1	2	EBF2	25771812	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	4.945000	0.63568	0.664000	0.31047	-0.797000	0.03246	TTG	EBF2	-	NULL	ENSG00000221818		0.507	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	-	0	74	0	A	NM_022659		25715895	-1	tier1	-	no_errors	ENST00000520164	ensembl	human	known	74_37	missense	55.00	18	22	SNP	1.000	C	C	25715895	A	C	25715895	3	2	3	1	0	0	0	0	1	0	0	0	4895	69	3	4	271	4	EBF2	8	25715895	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	1367585	25715895	120648127	111	758											
PI15	51050	genome.wustl.edu	37	chr8	75757681	75757681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaaaacatgaatgtttGgggatctgtgtggcgacgtg	9	12	14	6	2	1	1	0	1	1	0	1	3	1	2	1	3	2	1	1	3	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:75757681G>T	ENST00000260113.2	+	5	769	c.590G>T	c.(589-591)tGg>tTg	p.W197L	PI15_ENST00000523773.1_Missense_Mutation_p.W197L|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	197	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ATGAATGTTTGGGGATCTGTG	0.413																																																	0													166	146	153					8																	75757681		2203	4300	6503	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.590G>T	8.37:g.75757681G>T	ENSP00000260113:p.Trp197Leu		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.W197L	ENST00000260113.2	37	c.590	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458943	0.84317	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08282	3.11;3.11	5.41	5.41	0.78517	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.28532	0.0706	M	0.66560	2.04	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.00106	-1.2055	10	0.44086	T	0.13	.	19.39	0.94576	0.0:0.0:1.0:0.0	.	197	O43692	PI15_HUMAN	L	197	ENSP00000260113:W197L;ENSP00000428567:W197L	ENSP00000260113:W197L	W	+	2	0	PI15	75920236	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	9.188000	0.94921	2.812000	0.96745	0.557000	0.71058	TGG	PI15	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000137558		0.413	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1	-	0	63	0	G	NM_015886		75757681	1	tier1	-	no_errors	ENST00000260113	ensembl	human	known	74_37	missense	49.06	27	26	SNP	1.000	T	T	75757681	G	T	75757681	3	4	3	1	0	0	0	0	1	0	0	0	11907	1357	47	3	604	3	PI15	8	75757681	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	50041786	75757681	70606341	112	759											
MMP16	4325	genome.wustl.edu	37	chr8	89131076	89131076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcatggactgctacaaGaaataagtcatttcctgtgt	12	13	8	8	0	2	1	2	0	0	1	3	2	3	2	1	1	2	2	1	1	4	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:89131076G>T	ENST00000286614.6	-	5	1005	c.724C>A	c.(724-726)Ctt>Att	p.L242I	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	242					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ACTGCTACAAGAAATAAGTCA	0.368																																																	0													90	84	86					8																	89131076		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.724C>A	8.37:g.89131076G>T	ENSP00000286614:p.Leu242Ile		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.L242I	ENST00000286614.6	37	c.724	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950690	0.73787	.	.	ENSG00000156103	ENST00000286614	T	0.24151	1.87	5.34	5.34	0.76211	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.71206	2.165	0.58432	D	0.999999	P;D	0.61080	0.928;0.989	P;D	0.71414	0.878;0.973	T	0.51513	-0.8696	10	0.52906	T	0.07	.	19.0451	0.93016	0.0:0.0:1.0:0.0	.	242;242	P51512-2;P51512	.;MMP16_HUMAN	I	242	ENSP00000286614:L242I	ENSP00000286614:L242I	L	-	1	0	MMP16	89200192	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	6.347000	0.73004	2.489000	0.83994	0.557000	0.71058	CTT	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000156103		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	40	0	G	NM_005941		89131076	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	89131076	G	T	89131076	3	4	3	1	0	0	0	0	1	0	0	0	9693	942	33	3	1279	3	MMP16	8	89131076	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	13373395	89131076	57232946	113	760											
PGCP	10404	genome.wustl.edu	37	chr8	97797325	97797325	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagatcctatgagcgatTggcacttctggttgatactg	10	12	11	8	1	1	3	0	2	1	1	2	5	2	3	1	2	3	2	1	2	3	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:97797325T>A	ENST00000220763.5	+	2	410	c.200T>A	c.(199-201)tTg>tAg	p.L67*		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	67					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										TATGAGCGATTGGCACTTCTG	0.438																																																	0													121	113	116					8																	97797325		2203	4300	6503	SO:0001587	stop_gained	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.200T>A	8.37:g.97797325T>A	ENSP00000220763:p.Leu67*		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Nonsense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.L67*	ENST00000220763.5	37	c.200	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680642	0.88542	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2148	15.2124	0.73235	0.0:0.0:0.0:1.0	.	.	.	.	X	67	.	ENSP00000220763:L67X	L	+	2	0	AC010859.1	97866501	1.000000	0.71417	0.903000	0.35520	0.718000	0.41266	7.458000	0.80787	2.009000	0.58944	0.460000	0.39030	TTG	CPQ	-	NULL	ENSG00000104324		0.438	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2		0	32	0	T	NM_016134		97797325	1			no_errors	ENST00000220763	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	0.997	A	A	97797325	T	A	97797325	4	1	3	1	0	0	0	0	0	1	0	0	11825	1821	63	5	202	5	PGCP	8	97797325	Nonsense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	8666249	97797325	48566697	114	761											
ANGPT1	284	genome.wustl.edu	37	chr8	108509537	108509537	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacatgttccagatgttGaagtttctgggaagagaaat	13	12	10	6	0	2	3	1	1	1	2	3	5	3	4	1	1	0	3	1	1	3	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:108509537G>A								ANGPT1 (160787 upstream) : RNA5SP275 (387184 downstream)																							TCCAGATGTTGAAGTTTCTGG	0.448																																																	0													155	143	147					8																	108509537		2203	4300	6503	SO:0001628	intergenic_variant	0																															8.37:g.108509537G>A				Nonsense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q84*		37	c.250		8	.	.	.	.	.	.	.	.	.	.	G	43	9.855863	0.99280	.	.	ENSG00000154188	ENST00000517746;ENST00000297450	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000297450:Q84X	Q	-	1	0	ANGPT1	108578713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.136000	0.94489	2.880000	0.98712	0.650000	0.86243	CAA	ANGPT1	-	NULL	ENSG00000154188	0	0.448					ANGPT1	HGNC				0	27	0	G			108509537	-1			no_errors	ENST00000517746	ensembl	human	known	74_37	nonsense	17.86	23	5	SNP	1.000	A	A	108509537	G	A	108509537	1	1	3	0	1	0	0	0	0	0	0	0	610	1299	45	3		3	ANGPT1	8	108509537	IGR	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	10712212	108509537	37854485	115	762											
CSMD3	114788	genome.wustl.edu	37	chr8	113347645	113347645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaagtactgtagactgattCcaaagcggtattgccactga	12	11	10	8	1	0	4	0	3	0	1	1	4	1	4	2	1	3	3	2	1	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:113347645C>G	ENST00000297405.5	-	45	7322	c.7078G>C	c.(7078-7080)Gaa>Caa	p.E2360Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.E2256Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2320Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2290Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2360	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGACTGATTCCAAAGCGGTA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													131	119	123					8																	113347645		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7078G>C	8.37:g.113347645C>G	ENSP00000297405:p.Glu2360Gln		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E2360Q	ENST00000297405.5	37	c.7078	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485407	0.84854	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	4.78	4.78	0.61160	CUB (5);	0.000000	0.64402	D	0.000001	T	0.35941	0.0949	L	0.38649	1.16	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.974;0.984	D;P;D	0.72338	0.977;0.884;0.933	T	0.02109	-1.1212	10	0.23891	T	0.37	.	18.3494	0.90333	0.0:1.0:0.0:0.0	.	2256;2360;2320	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2320;2360;1630;2256;2290	ENSP00000345799:E2320Q;ENSP00000297405:E2360Q;ENSP00000341558:E1630Q;ENSP00000412263:E2256Q;ENSP00000343124:E2290Q	ENSP00000297405:E2360Q	E	-	1	0	CSMD3	113416821	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.649000	0.89929	0.585000	0.79938	GAA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	48	0	C	NM_052900		113347645	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	15.52	49	9	SNP	1.000	G	G	113347645	C	G	113347645	3	3	3	1	0	0	0	0	1	0	0	0	3955	864	30	5	4153	5	CSMD3	8	113347645	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	4838108	113347645	33016377	116	763											
KIAA0196	9897	genome.wustl.edu	37	chr8	126085478	126085478	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttgggatattgtccAgaaccatctcctcccttaaa	11	12	7	11	0	1	1	0	0	1	1	4	3	3	2	4	1	2	1	4	1	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:126085478A>T	ENST00000318410.7	-	9	1416	c.1067T>A	c.(1066-1068)cTg>cAg	p.L356Q	KIAA0196_ENST00000517845.1_Missense_Mutation_p.L208Q	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	356					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GATATTGTCCAGAACCATCTC	0.443																																																	0													138	116	123					8																	126085478		2203	4300	6503	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1067T>A	8.37:g.126085478A>T	ENSP00000318016:p.Leu356Gln		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.L356Q	ENST00000318410.7	37	c.1067	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	A	29.3	4.992673	0.93167	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	D;D	0.92099	-2.97;-2.97	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.96451	0.8842	M	0.85859	2.78	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96933	0.9682	10	0.87932	D	0	-13.5196	16.6154	0.84909	1.0:0.0:0.0:0.0	.	356	Q12768	STRUM_HUMAN	Q	356;208	ENSP00000318016:L356Q;ENSP00000429676:L208Q	ENSP00000318016:L356Q	L	-	2	0	KIAA0196	126154660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.315000	0.78130	0.533000	0.62120	CTG	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.443	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0	78	0	A	NM_014846		126085478	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	126085478	A	T	126085478	3	4	3	1	0	0	0	0	1	0	0	0	8188	188	7	5	2496	5	KIAA0196	8	126085478	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	12737833	126085478	20278544	117	764											
RHPN1	114822	genome.wustl.edu	37	chr8	144462879	144462879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctcccagacgctgcagcGctcactggccaagtatgcgg	8	7	12	14	3	2	1	1	0	1	1	3	2	2	1	2	2	3	4	2	2	2	1	rs374426571		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr8:144462879G>A	ENST00000289013.6	+	11	1438	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	471	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACGCTGCAGCGCTCACTGGCC	0.687																																																	0								G	HIS/ARG	0,4256		0,0,2128	20	25	24		1337	3.5	0.8	8		24	2,8480		0,2,4239	no	missense	RHPN1	NM_052924.2	29	0,2,6367	AA,AG,GG		0.0236,0.0,0.0157	probably-damaging	446/671	144462879	2,12736	2128	4241	6369	SO:0001583	missense	0			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1337G>A	8.37:g.144462879G>A	ENSP00000289013:p.Arg446His		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.R446H	ENST00000289013.6	37	c.1337	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531167	0.27387	0.0	2.36E-4	ENSG00000158106	ENST00000289013	T	0.19669	2.13	4.34	3.46	0.39613	.	0.125811	0.53938	N	0.000059	T	0.24547	0.0595	M	0.83384	2.64	0.38524	D	0.948794	B	0.30361	0.277	B	0.21708	0.036	T	0.11012	-1.0605	10	0.66056	D	0.02	-13.7618	7.8011	0.29174	0.1922:0.0:0.8078:0.0	.	446	Q8TCX5-2	.	H	446	ENSP00000289013:R446H	ENSP00000289013:R446H	R	+	2	0	RHPN1	144534022	0.919000	0.31177	0.761000	0.31378	0.018000	0.09664	2.990000	0.49401	0.814000	0.34374	0.313000	0.20887	CGC	RHPN1	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000158106		0.687	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	-	0	54	0	G			144462879	1	tier1	-	no_errors	ENST00000289013	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.999	A	A	144462879	G	A	144462879	3	1	3	1	0	0	0	0	1	0	0	0	13395	1087	38	1	1379	1	RHPN1	8	144462879	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	18377401	144462879	1901143	118	765											
LINGO2	158038	genome.wustl.edu	37	chr9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T																															ttcttttcacggattttgggINSttttttgcaggtaaagtaaa																								rs199551773|rs377599950		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaacccfs	p.P410fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.P410fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49																																																	2	Substitution - Missense(2)	prostate(2)																																								SO:0001589	frameshift_variant	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1228dupA	9.37:g.27949448_27949448dupT	ENSP00000369328:p.Pro410fs		A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P409fs	ENST00000379992.2	37	c.1228_1227	CCDS6524.1	9																																																																																			LINGO2	-	NULL	ENSG00000174482		0.49	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2		0	69	0	-	NM_152570		27949443	-1	tier1		no_errors	ENST00000308675	ensembl	human	known	74_37	frame_shift_ins	9.38	29	3	INS	1.000:1.000	T	T	27949443	-	T	27949442	7	5	3	1	0	1	1	0	0	0	0	0	8845	1261	44	0	596	0	LINGO2	9	27949442	Frame_Shift_Ins	INS	-	TCGA-2H-A9GH-01A-11D-A37C-09		27949442	113263989	119	766											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88967671	88967671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagtcgtcttacagttctGcagcctcttgtgtcttgcca	7	14	8	12	1	4	0	0	0	4	0	5	0	4	0	2	0	5	2	2	0	2	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:88967671G>A	ENST00000375963.3	-	2	616	c.444C>T	c.(442-444)tgC>tgT	p.C148C	ZCCHC6_ENST00000375947.1_5'Flank|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Silent_p.C148C|ZCCHC6_ENST00000375961.2_Silent_p.C148C	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	148					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTACAGTTCTGCAGCCTCTTG	0.403																																																	0													194	192	193					9																	88967671		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.444C>T	9.37:g.88967671G>A			Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.C148	ENST00000375963.3	37	c.444	CCDS35057.1	9																																																																																			ZCCHC6	-	NULL	ENSG00000083223		0.403	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1		0	53	0	G	NM_024617		88967671	-1			no_errors	ENST00000375963	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	A	A	88967671	G	A	88967671	2	1	3	1	0	0	0	0	0	0	0	1	17640	1311	46	3		3	ZCCHC6	9	88967671	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	61018229	88967671	52245760	120	767											
NFIL3	4783	genome.wustl.edu	37	chr9	94171973	94171973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggtgaggaaagtttttgCgtggcctcaaattcattatc	11	14	10	6	1	2	1	2	1	0	0	3	2	2	2	1	3	1	1	1	3	4	5	rs141662610		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:94171973C>T	ENST00000297689.3	-	2	1438	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	348	Necessary for transcriptional repression and sufficient for interaction with DR1.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGTTTTTGCGTGGCCTCAA	0.423													C|||	1	0.000199681	0	0	5008	,	,		21053	0.001		0	False		,,,				2504	0				Esophageal Squamous(152;732 1832 10053 26981 51762)												0								C		1,4405	2.1+/-5.4	0,1,2202	128	123	125		1044	-7.3	0	9	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	NFIL3	NM_005384.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		348/463	94171973	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.1044G>A	9.37:g.94171973C>T			B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Silent	SNP	pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.T348	ENST00000297689.3	37	c.1044	CCDS6690.1	9																																																																																			NFIL3	-	pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4	ENSG00000165030		0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	HGNC	protein_coding	OTTHUMT00000053038.2		0	35	0	C	NM_005384		94171973	-1			no_errors	ENST00000297689	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.000	T	T	94171973	C	T	94171973	2	4	3	1	0	0	0	0	0	0	0	1	10412	755	27	1		1	NFIL3	9	94171973	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5204302	94171973	47041458	121	768											
IPPK	64768	genome.wustl.edu	37	chr9	95397512	95397512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccttcgatgtccagcAggtccaacatctgcacctgg	9	8	11	13	1	1	1	0	0	1	1	4	2	3	1	4	3	3	2	4	3	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:95397512A>G	ENST00000287996.3	-	10	1271	c.995T>C	c.(994-996)cTg>cCg	p.L332P	IPPK_ENST00000375522.1_Missense_Mutation_p.L4P	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	332					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GATGTCCAGCAGGTCCAACAT	0.577											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													117	104	108					9																	95397512		2203	4300	6503	SO:0001583	missense	0			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.995T>C	9.37:g.95397512A>G	ENSP00000287996:p.Leu332Pro	1312	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.L332P	ENST00000287996.3	37	c.995	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	A	11.16	1.555966	0.27827	.	.	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.45668	1.54;0.89	4.54	3.24	0.37175	.	0.392684	0.27691	N	0.018254	T	0.27349	0.0671	N	0.08118	0	0.51233	D	0.999915	B;B	0.32425	0.295;0.371	B;B	0.41332	0.354;0.27	T	0.07597	-1.0764	10	0.29301	T	0.29	-7.5533	10.1761	0.42939	0.8108:0.0:0.0:0.1892	.	332;31	Q9H8X2;B3KVX7	IPPK_HUMAN;.	P	332;4	ENSP00000287996:L332P;ENSP00000364672:L4P	ENSP00000287996:L332P	L	-	2	0	IPPK	94437333	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	2.470000	0.45119	0.658000	0.30925	0.459000	0.35465	CTG	IPPK	-	pfam_Ins_P5_2-kin	ENSG00000127080		0.577	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	-	0	63	0	A	NM_022755		95397512	-1	tier1	-	no_errors	ENST00000287996	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.995	G	G	95397512	A	G	95397512	3	3	3	1	0	0	0	0	1	0	0	0	7828	188	7	4	496	4	IPPK	9	95397512	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	1225539	95397512	45815919	122	769											
OR13C2	392376	genome.wustl.edu	37	chr9	107367631	107367631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgcacagccagaaaggGaaatggtctttctttctgaa	12	10	10	9	0	3	2	0	1	3	1	3	3	3	3	1	2	2	2	1	2	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:107367631G>T	ENST00000542196.1	-	1	320	c.278C>A	c.(277-279)tCc>tAc	p.S93Y		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAGAAAGGGAAATGGTCTT	0.517																																																	0													89	87	88					9																	107367631		2202	4299	6501	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.278C>A	9.37:g.107367631G>T	ENSP00000438815:p.Ser93Tyr		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S93Y	ENST00000542196.1	37	c.278	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910903	0.52439	.	.	ENSG00000257019	ENST00000542196	T	0.00745	5.75	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35838	U	0.002946	T	0.06096	0.0158	H	0.95679	3.705	0.37974	D	0.933371	D	0.65815	0.995	D	0.63381	0.914	T	0.03795	-1.1003	10	0.87932	D	0	.	12.6245	0.56622	0.0:0.0:1.0:0.0	.	93	Q8NGS9	O13C2_HUMAN	Y	93	ENSP00000438815:S93Y	ENSP00000438815:S93Y	S	-	2	0	OR13C2	106407452	1.000000	0.71417	0.325000	0.25375	0.548000	0.35241	5.064000	0.64338	1.807000	0.52817	0.462000	0.41574	TCC	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000257019		0.517	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2		0	53	0	G	NM_001004481		107367631	-1			no_errors	ENST00000542196	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.946	T	T	107367631	G	T	107367631	3	4	3	1	0	0	0	0	1	0	0	0	10973	1174	41	3	681	3	OR13C2	9	107367631	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	11970119	107367631	33845800	123	770											
GSN	2934	genome.wustl.edu	37	chr9	124091567	124091567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacctggcaacggatgacGtcatgcttctggacacctgg	10	8	12	11	2	2	2	1	1	1	1	2	4	2	4	2	4	2	2	2	4	2	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:124091567G>C	ENST00000373818.4	+	15	2161	c.2092G>C	c.(2092-2094)Gtc>Ctc	p.V698L	GSN_ENST00000373823.3_Missense_Mutation_p.V647L|GSN_ENST00000545652.1_Missense_Mutation_p.V655L|GSN_ENST00000394353.2_Missense_Mutation_p.V658L|GSN_ENST00000449733.1_Missense_Mutation_p.V647L|GSN_ENST00000412819.1_Missense_Mutation_p.V647L|GSN_ENST00000373806.1_Missense_Mutation_p.V123L|GSN_ENST00000373807.1_Missense_Mutation_p.V429L|GSN_ENST00000373808.2_Missense_Mutation_p.V647L|GSN_ENST00000436847.1_Missense_Mutation_p.V658L|GSN_ENST00000341272.2_Missense_Mutation_p.V647L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	698	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AACGGATGACGTCATGCTTCT	0.547																																																	0													124	102	109					9																	124091567		2203	4300	6503	SO:0001583	missense	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2092G>C	9.37:g.124091567G>C	ENSP00000362924:p.Val698Leu		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.V698L	ENST00000373818.4	37	c.2092	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872187	0.91587	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806;ENST00000373805	T;T;T;T;T;T;T;T;T;T;T	0.57752	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;0.38;1.59	5.62	5.62	0.85841	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	M	0.94142	3.5	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;P;D;D;D	0.87578	0.994;0.883;0.989;0.994;0.998	D	0.86287	0.1671	10	0.87932	D	0	-43.6659	18.6513	0.91431	0.0:0.0:1.0:0.0	.	671;655;658;429;698	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	L	647;658;658;647;647;647;647;631;621;655;698;429;123;123	ENSP00000362929:V647L;ENSP00000411293:V658L;ENSP00000377882:V658L;ENSP00000409358:V647L;ENSP00000416586:V647L;ENSP00000340888:V647L;ENSP00000362914:V647L;ENSP00000445823:V655L;ENSP00000362924:V698L;ENSP00000362913:V429L;ENSP00000362912:V123L	ENSP00000340888:V647L	V	+	1	0	GSN	123131388	1.000000	0.71417	0.989000	0.46669	0.649000	0.38597	9.414000	0.97362	2.625000	0.88918	0.655000	0.94253	GTC	GSN	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	ENSG00000148180		0.547	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	-	0	30	0	G	NM_000177		124091567	1	tier1	-	no_errors	ENST00000373818	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	C	C	124091567	G	C	124091567	3	2	3	1	0	0	0	0	1	0	0	0	6852	1145	40	5	2178	5	GSN	9	124091567	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	16723936	124091567	17121864	124	771											
LMX1B	4010	genome.wustl.edu	37	chr9	129453201	129453201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagtgcgtgtaccaccTgggctgcttctgctgctgcg	3	11	15	12	2	1	0	0	0	1	0	1	1	1	1	2	2	6	6	2	2	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:129453201T>C	ENST00000373474.4	+	3	420	c.413T>C	c.(412-414)cTg>cCg	p.L138P	LMX1B_ENST00000355497.5_Missense_Mutation_p.L138P|LMX1B_ENST00000561065.1_Missense_Mutation_p.L115P|LMX1B_ENST00000425646.2_Missense_Mutation_p.L115P|LMX1B_ENST00000526117.1_Missense_Mutation_p.L138P			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	138	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GTGTACCACCTGGGCTGCTTC	0.627									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													81	65	70					9																	129453201		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.413T>C	9.37:g.129453201T>C	ENSP00000362573:p.Leu138Pro		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.L138P	ENST00000373474.4	37	c.413	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785579	0.90282	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.0	5.0	0.66597	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.91126	0.7206	L	0.49699	1.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.994	D	0.92047	0.5645	10	0.87932	D	0	.	13.8887	0.63724	0.0:0.0:0.0:1.0	.	115;115;138	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	P	138;138;138;115	ENSP00000436930:L138P;ENSP00000362573:L138P;ENSP00000347684:L138P;ENSP00000390923:L115P	ENSP00000347684:L138P	L	+	2	0	LMX1B	128493022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.030000	0.88816	1.857000	0.53885	0.402000	0.26972	CTG	LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136944		0.627	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	-	0	76	0	T			129453201	1	tier1	-	no_errors	ENST00000355497	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	C	C	129453201	T	C	129453201	3	2	3	1	0	0	0	0	1	0	0	0	8892	1580	55	4	423	4	LMX1B	9	129453201	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	5361634	129453201	11760230	125	772											
GARNL3	84253	genome.wustl.edu	37	chr9	130155496	130155496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccccttccagctcaCggctttctccgatgaagaca	9	8	8	16	2	2	2	1	1	1	1	4	3	3	2	4	1	3	3	4	1	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:130155496C>T	ENST00000373387.4	+	28	3357	c.3005C>T	c.(3004-3006)aCg>aTg	p.T1002M	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.T980M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1002					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTCCAGCTCACGGCTTTCTCC	0.507																																																	0													65	74	71					9																	130155496		2203	4300	6503	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3005C>T	9.37:g.130155496C>T	ENSP00000362485:p.Thr1002Met		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.T1002M	ENST00000373387.4	37	c.3005	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	C	8.350	0.830662	0.16820	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87491	-2.25;-2.26	5.73	2.06	0.26882	.	0.916443	0.09497	N	0.794217	T	0.78071	0.4226	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.59209	-0.7497	9	.	.	.	.	10.6023	0.45373	0.0:0.7736:0.0:0.2264	.	1002;980	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	M	980;1002	ENSP00000396205:T980M;ENSP00000362485:T1002M	.	T	+	2	0	GARNL3	129195317	0.001000	0.12720	0.001000	0.08648	0.480000	0.33159	0.821000	0.27338	0.181000	0.19994	0.655000	0.94253	ACG	GARNL3	-	NULL	ENSG00000136895		0.507	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3		0	30	0	C	NM_032293		130155496	1			no_errors	ENST00000373387	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.006	T	T	130155496	C	T	130155496	3	4	3	1	0	0	0	0	1	0	0	0	6266	536	19	1	3115	1	GARNL3	9	130155496	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	702295	130155496	11057935	126	773											
C9orf117	286207	genome.wustl.edu	37	chr9	130472879	130472879	+	Splice_Site	DEL	G	G	-																															cttgtgcgctgtggcggccaGgggggaagctggcagccctg																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:130472879delG	ENST00000373295.2	+	3	473		c.e3-1		C9orf117_ENST00000373293.5_5'Flank	NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117											breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTGGCGGCCAGGGGGGAAGCT	0.617																																																	0													13	16	15					9																	130472879		2007	4152	6159	SO:0001630	splice_region_variant	0			AK094948	CCDS43878.1	9q34.11	2012-04-02			ENSG00000160401	ENSG00000160401			27843	protein-coding gene	gene with protein product							Standard	NM_001012502		Approved		uc004brn.1	Q5JU67	OTTHUMG00000020709	ENST00000373295.2:c.434-1G>-	9.37:g.130472879delG			A5D8T9	Splice_Site	DEL	-	e3-1	ENST00000373295.2	37	c.434-1	CCDS43878.1	9																																																																																			C9orf117	-	-	ENSG00000160401		0.617	C9orf117-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C9orf117	HGNC	protein_coding	OTTHUMT00000054215.2		0	43	0	G	NM_001012502	Intron	130472879	1	tier1		no_errors	ENST00000373295	ensembl	human	known	74_37	splice_site_del	6.90	27	2	DEL	1.000	-	-	130472879	G	-	130472879	8	5	3	1	0	1	0	1	0	0	1	0	2458	1014	35	0	443	0	C9orf117	9	130472879	Splice_Site	DEL	G	TCGA-2H-A9GH-01A-11D-A37C-09	317383	130472879	10740552	127	774											
TOR1A	1861	genome.wustl.edu	37	chr9	132580868	132580868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgatgtcttccctctGctttccactcctccagaaat	7	14	6	14	0	2	2	0	1	2	1	6	3	6	2	4	0	2	2	4	0	1	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr9:132580868G>T	ENST00000351698.4	-	4	727	c.679C>A	c.(679-681)Cag>Aag	p.Q227K	TOR1A_ENST00000473084.1_5'Flank	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	227	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TCTTCCCTCTGCTTTCCACTC	0.493																																																	0													178	166	170					9																	132580868		2203	4300	6503	SO:0001583	missense	0			AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"dystonia 1, torsion (autosomal dominant; torsin A)"	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.679C>A	9.37:g.132580868G>T	ENSP00000345719:p.Gln227Lys		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.Q227K	ENST00000351698.4	37	c.679	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	G	4.199	0.035620	0.08148	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.37915	1.17	6.17	3.08	0.35506	.	0.457236	0.26757	N	0.022658	T	0.09555	0.0235	N	0.00783	-1.19	0.25992	N	0.982234	B	0.02656	0.0	B	0.01281	0.0	T	0.34900	-0.9810	10	0.02654	T	1	-30.1219	9.185	0.37165	0.0:0.199:0.3256:0.4754	.	227	O14656	TOR1A_HUMAN	K	196;227	ENSP00000345719:Q227K	ENSP00000345719:Q227K	Q	-	1	0	TOR1A	131620689	0.001000	0.12720	0.896000	0.35187	0.986000	0.74619	0.173000	0.16724	0.854000	0.35336	0.655000	0.94253	CAG	TOR1A	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr	ENSG00000136827		0.493	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1		0	65	0	G	NM_000113		132580868	-1			no_errors	ENST00000351698	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.799	T	T	132580868	G	T	132580868	3	4	3	1	0	0	0	0	1	0	0	0	16419	1328	46	3	327	3	TOR1A	9	132580868	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2107989	132580868	8632563	128	775											
PRKCQ	5588	genome.wustl.edu	37	chr10	6520982	6520982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtacaaaacatgtgcGtcagaaacggatgctcccag	14	7	11	9	2	1	1	1	0	0	1	2	3	2	3	1	2	5	2	1	2	5	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:6520982G>A	ENST00000263125.5	-	12	1424	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	PRKCQ_ENST00000539722.1_Missense_Mutation_p.T317M|PRKCQ_ENST00000397176.2_Missense_Mutation_p.T442M	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AAACATGTGCGTCAGAAACGG	0.498																																					Ovarian(50;572 1126 10530 25349 30594)												0													229	192	205					10																	6520982		2203	4300	6503	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1325C>T	10.37:g.6520982G>A	ENSP00000263125:p.Thr442Met		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T442M	ENST00000263125.5	37	c.1325	CCDS7079.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.54|15.54	2.864771|2.864771	0.51482|0.51482	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.65364	.|-0.15;-0.15;-0.15	4.76|4.76	3.86|3.86	0.44501|0.44501	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.047773	.|0.85682	.|D	.|0.000000	T|T	0.64757|0.64757	0.2627|0.2627	N|N	0.17248|0.17248	0.465|0.465	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.996;0.994;0.996;0.985	T|T	0.69606|0.69606	-0.5100|-0.5100	5|10	.|0.87932	.|D	.|0	.|.	12.8711|12.8711	0.57965|0.57965	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	.|317;214;442;442	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	C|M	215|442;442;317	.|ENSP00000263125:T442M;ENSP00000380361:T442M;ENSP00000441752:T317M	.|ENSP00000263125:T442M	R|T	-|-	1|2	0|0	PRKCQ|PRKCQ	6560988|6560988	1.000000|1.000000	0.71417|0.71417	0.467000|0.467000	0.27180|0.27180	0.311000|0.311000	0.27955|0.27955	9.671000|9.671000	0.98627|0.98627	1.134000|1.134000	0.42165|0.42165	-0.229000|-0.229000	0.12294|0.12294	CGC|ACG	PRKCQ	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom	ENSG00000065675		0.498	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	-	0	46	0	G	NM_006257		6520982	-1	tier1	-	no_errors	ENST00000263125	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.996	A	A	6520982	G	A	6520982	3	1	3	1	0	0	0	0	1	0	0	0	12557	1145	40	1	823	1	PRKCQ	10	6520982	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		6520982	129013765	129	776											
MCM10	55388	genome.wustl.edu	37	chr10	13206206	13206206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgtcctcttgacagcatgGatggtaagacctggcagttt	9	12	11	9	0	1	2	0	1	1	1	2	3	2	3	2	3	1	4	2	3	1	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:13206206G>A	ENST00000484800.2	+	2	107	c.4G>A	c.(4-6)Gat>Aat	p.D2N	MCM10_ENST00000378714.3_Missense_Mutation_p.D2N|MCM10_ENST00000378694.1_Missense_Mutation_p.D2N			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	2	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGACAGCATGGATGGTAAGAC	0.408																																																	0													140	120	127					10																	13206206		2203	4300	6503	SO:0001583	missense	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.4G>A	10.37:g.13206206G>A	ENSP00000418268:p.Asp2Asn		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.D2N	ENST00000484800.2	37	c.4	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754746	0.49362	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.15952	2.39;2.39;2.38	4.5	4.5	0.54988	.	1.802070	0.02818	N	0.125193	T	0.29588	0.0738	N	0.16478	0.41	0.34465	D	0.702208	D;D;D	0.71674	0.997;0.998;0.997	P;D;P	0.66979	0.888;0.948;0.888	T	0.12863	-1.0531	10	0.38643	T	0.18	-0.3493	12.9299	0.58280	0.0:0.0:1.0:0.0	.	2;2;2	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	N	2	ENSP00000367986:D2N;ENSP00000418268:D2N;ENSP00000367966:D2N	ENSP00000354945:D2N	D	+	1	0	MCM10	13246212	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	0.956000	0.29202	2.498000	0.84270	0.655000	0.94253	GAT	MCM10	-	NULL	ENSG00000065328		0.408	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	-	0	69	0	G	NM_182751		13206206	1	tier1	-	no_errors	ENST00000484800	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	13206206	G	A	13206206	3	1	3	1	0	0	0	0	1	0	0	0	9423	1174	41	3	6	3	MCM10	10	13206206	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	6685224	13206206	122328541	130	777											
MPP7	143098	genome.wustl.edu	37	chr10	28378763	28378763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaagacgaaaactttttctAaaaccagctgcaaatattaa	18	11	4	8	1	1	1	0	0	1	1	1	2	1	1	1	0	4	2	1	0	8	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:28378763A>G	ENST00000375732.1	-	12	1219	c.960T>C	c.(958-960)ttT>ttC	p.F320F	MPP7_ENST00000445954.2_Silent_p.F195F|MPP7_ENST00000337532.5_Silent_p.F320F|MPP7_ENST00000540098.1_Silent_p.F320F|MPP7_ENST00000375719.3_Silent_p.F320F			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	320					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AACTTTTTCTAAAACCAGCTG	0.308																																																	0													84	74	77					10																	28378763		2203	4300	6503	SO:0001819	synonymous_variant	0			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.960T>C	10.37:g.28378763A>G			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain	p.F320	ENST00000375732.1	37	c.960	CCDS7158.1	10																																																																																			MPP7	-	superfamily_SH3_domain	ENSG00000150054		0.308	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	-	0	46	0	A	NM_173496		28378763	-1	tier1	-	no_errors	ENST00000337532	ensembl	human	known	74_37	silent	12.00	22	3	SNP	1.000	G	G	28378763	A	G	28378763	2	3	3	1	0	0	0	0	0	0	0	1	9777	359	13	4		4	MPP7	10	28378763	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	15172557	28378763	107155984	131	778											
ANK3	288	genome.wustl.edu	37	chr10	61833950	61833950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttaaaacccgattgTggtcatcttcttcactactg	8	16	6	11	1	4	0	2	0	2	0	4	1	4	0	1	1	3	1	1	1	3	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:61833950T>C	ENST00000280772.2	-	37	6880	c.6689A>G	c.(6688-6690)cAc>cGc	p.H2230R	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2230					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACCCGATTGTGGTCATCTTC	0.418																																																	0													217	201	206					10																	61833950		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6689A>G	10.37:g.61833950T>C	ENSP00000280772:p.His2230Arg		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.H2230R	ENST00000280772.2	37	c.6689	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.150855	0.00328	.	.	ENSG00000151150	ENST00000280772	T	0.61392	0.11	6.05	0.361	0.16107	.	0.159168	0.29653	N	0.011554	T	0.31734	0.0806	N	0.16478	0.41	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30650	-0.9971	10	0.02654	T	1	.	10.1002	0.42499	0.0:0.0656:0.4293:0.5051	.	2230	Q12955	ANK3_HUMAN	R	2230	ENSP00000280772:H2230R	ENSP00000280772:H2230R	H	-	2	0	ANK3	61503956	1.000000	0.71417	0.991000	0.47740	0.769000	0.43574	2.635000	0.46537	0.129000	0.18514	-0.329000	0.08387	CAC	ANK3	-	NULL	ENSG00000151150		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	57	0	T	NM_020987		61833950	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	45.95	20	17	SNP	0.956	C	C	61833950	T	C	61833950	3	2	3	1	0	0	0	0	1	0	0	0	622	1696	59	4	6785	4	ANK3	10	61833950	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	33455187	61833950	73700797	132	779											
KIF20B	9585	genome.wustl.edu	37	chr10	91528501	91528501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtttattaggttgccAtacgtccatcatctaagaaa	11	16	7	7	1	2	1	1	0	1	1	3	1	3	1	2	1	2	3	2	1	5	8			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:91528501A>G	ENST00000371728.3	+	31	5163	c.5098A>G	c.(5098-5100)Ata>Gta	p.I1700V	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.I1730V|KIF20B_ENST00000260753.4_Missense_Mutation_p.I1660V	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1700	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTAGGTTGCCATACGTCCATC	0.363																																																	0													80	76	78					10																	91528501		2203	4300	6503	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5098A>G	10.37:g.91528501A>G	ENSP00000360793:p.Ile1700Val		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1730V	ENST00000371728.3	37	c.5188		10	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.445945	0.00178	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.65732	-0.17;-0.17;-0.17	5.7	0.787	0.18596	.	1.270120	0.05485	N	0.555577	T	0.39279	0.1072	N	0.12182	0.205	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15636	-1.0430	10	0.16420	T	0.52	4.064	4.1002	0.10010	0.6265:0.0:0.2317:0.1418	.	1700;1660	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	1660;1730;1700	ENSP00000260753:I1660V;ENSP00000411545:I1730V;ENSP00000360793:I1700V	ENSP00000260753:I1660V	I	+	1	0	KIF20B	91518481	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	0.013000	0.13310	-0.105000	0.12132	0.454000	0.30748	ATA	KIF20B	-	NULL	ENSG00000138182		0.363	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	47	0	A	NM_016195		91528501	1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.108	G	G	91528501	A	G	91528501	3	3	3	1	0	0	0	0	1	0	0	0	8314	217	8	4	5096	4	KIF20B	10	91528501	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	29694551	91528501	44006246	133	780											
LGI1	9211	genome.wustl.edu	37	chr10	95552621	95552621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccccagaatacaagaagCgcaaaatcaatagtctctcc	15	6	6	14	1	2	2	1	0	1	2	4	2	3	2	4	0	2	1	4	0	8	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:95552621C>T	ENST00000371418.4	+	6	885	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	LGI1_ENST00000371413.3_Missense_Mutation_p.R209C|LGI1_ENST00000542308.1_Missense_Mutation_p.R161C	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	209	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATACAAGAAGCGCAAAATCAA	0.408																																																	0													128	130	129					10																	95552621		2203	4300	6503	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.625C>T	10.37:g.95552621C>T	ENSP00000360472:p.Arg209Cys		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R209C	ENST00000371418.4	37	c.625	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906082	0.72868	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;T;T	0.78707	-1.2;-0.27;-0.19	5.19	5.19	0.71726	Cysteine-rich flanking region, C-terminal (1);	0.101115	0.64402	D	0.000005	D	0.87450	0.6180	M	0.87269	2.87	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.61800	0.878;0.894;0.676	D	0.87943	0.2718	10	0.46703	T	0.11	-6.3446	13.8285	0.63366	0.1527:0.8473:0.0:0.0	.	161;209;209	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	C	161;209;209	ENSP00000440763:R161C;ENSP00000360472:R209C;ENSP00000360467:R209C	ENSP00000360467:R209C	R	+	1	0	LGI1	95542611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.560000	0.60802	2.686000	0.91538	0.650000	0.86243	CGC	LGI1	-	smart_Cys-rich_flank_reg_C	ENSG00000108231		0.408	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	-	0	76	0	C	NM_005097		95552621	1	tier1	-	no_errors	ENST00000371418	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	T	T	95552621	C	T	95552621	3	4	3	1	0	0	0	0	1	0	0	0	8780	768	27	1	647	1	LGI1	10	95552621	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	4024120	95552621	39982126	134	781											
PDLIM1	9124	genome.wustl.edu	37	chr10	96998406	96998406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccactttagtgacaggagctTtaacacttctgaatcctgag	11	12	8	10	0	1	3	0	3	1	0	2	4	2	4	2	1	2	1	2	1	3	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:96998406T>C	ENST00000329399.6	-	6	830	c.722A>G	c.(721-723)aAa>aGa	p.K241R	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	241					regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GACAGGAGCTTTAACACTTCT	0.478																																																	0													97	86	90					10																	96998406		2203	4300	6503	SO:0001583	missense	0			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.722A>G	10.37:g.96998406T>C	ENSP00000360305:p.Lys241Arg		B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.K241R	ENST00000329399.6	37	c.722	CCDS7441.1	10	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812712	0.32053	.	.	ENSG00000107438	ENST00000329399	T	0.21361	2.01	5.23	5.23	0.72850	.	0.042455	0.85682	D	0.000000	T	0.12732	0.0309	N	0.21142	0.635	0.52501	D	0.999956	B	0.19200	0.034	B	0.16289	0.015	T	0.14839	-1.0458	10	0.17832	T	0.49	-14.6782	8.918	0.35594	0.0:0.0835:0.0:0.9165	.	241	O00151	PDLI1_HUMAN	R	241	ENSP00000360305:K241R	ENSP00000360305:K241R	K	-	2	0	PDLIM1	96988396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.463000	0.53050	1.978000	0.57642	0.454000	0.30748	AAA	PDLIM1	-	NULL	ENSG00000107438		0.478	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM1	HGNC	protein_coding	OTTHUMT00000049508.1	-	0	92	0	T			96998406	-1	tier1	-	no_errors	ENST00000329399	ensembl	human	known	74_37	missense	43.94	37	29	SNP	1.000	C	C	96998406	T	C	96998406	3	2	3	1	0	0	0	0	1	0	0	0	11718	1841	64	4	275	4	PDLIM1	10	96998406	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	1445785	96998406	38536341	135	782											
SORBS1	10580	genome.wustl.edu	37	chr10	97165894	97165894	+	Frame_Shift_Del	DEL	T	T	-																															cctgaaaggctactgagtcgTttttgctgttctgtgataaa																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:97165894delT	ENST00000361941.3	-	9	992	c.966delA	c.(964-966)aaafs	p.K322fs	SORBS1_ENST00000371246.2_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000277982.5_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000371249.2_Frame_Shift_Del_p.K290fs|SORBS1_ENST00000371239.1_Frame_Shift_Del_p.K167fs|SORBS1_ENST00000371247.2_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Frame_Shift_Del_p.K253fs|SORBS1_ENST00000393949.1_Frame_Shift_Del_p.K313fs|SORBS1_ENST00000354106.3_Frame_Shift_Del_p.K313fs|SORBS1_ENST00000371241.1_Frame_Shift_Del_p.K158fs|SORBS1_ENST00000371227.4_Frame_Shift_Del_p.K322fs|SORBS1_ENST00000347291.4_Frame_Shift_Del_p.K190fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Frame_Shift_Del_p.K199fs|SORBS1_ENST00000353505.5_Frame_Shift_Del_p.K253fs	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TACTGAGTCGTTTTTGCTGTT	0.413																																																	0													104	94	97					10																	97165894		2203	4299	6502	SO:0001589	frameshift_variant	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.966delA	10.37:g.97165894delT	ENSP00000355136:p.Lys322fs			Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.K322fs	ENST00000361941.3	37	c.966	CCDS31255.1	10																																																																																			SORBS1	-	NULL	ENSG00000095637		0.413	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1		0	52	0	T			97165894	-1	tier1		no_errors	ENST00000361941	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.990	-	-	97165894	T	-	97165894	7	5	3	1	0	1	0	1	0	0	0	0	14972	1722	60	0	3201	0	SORBS1	10	97165894	Frame_Shift_Del	DEL	T	TCGA-2H-A9GH-01A-11D-A37C-09	167488	97165894	38368853	136	783											
ADRA2A	150	genome.wustl.edu	37	chr10	112838072	112838072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcatccctttctcgctGgccaacgaggtcatgggcta	6	11	10	14	3	3	0	2	0	1	0	6	1	4	0	2	3	1	2	2	3	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:112838072G>A	ENST00000280155.2	+	1	1283	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	91					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTTCTCGCTGGCCAACGAGG	0.622																																					Esophageal Squamous(173;605 2658 7278 49362)												0													84	70	75					10																	112838072		2203	4300	6503	SO:0001819	synonymous_variant	0			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.318G>A	10.37:g.112838072G>A			B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt	p.L106	ENST00000280155.2	37	c.318	CCDS7569.2	10																																																																																			ADRA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam	ENSG00000150594		0.622	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	-	0	45	0	G	NM_000681		112838072	1	tier1	-	no_errors	ENST00000280155	ensembl	human	known	74_37	silent	59.57	19	28	SNP	1.000	A	A	112838072	G	A	112838072	2	1	3	1	0	0	0	0	0	0	0	1	337	1335	47	3		3	ADRA2A	10	112838072	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	15672178	112838072	22696675	137	784											
PPP2R2D	55844	genome.wustl.edu	37	chr10	133761171	133761171	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaaggtgtgggacctcAacatggagagcaggccggtg	9	6	18	8	2	1	2	1	1	0	1	1	4	1	3	2	6	2	1	2	6	2	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:133761171A>G	ENST00000422256.2	+	6	760	c.275A>G	c.(274-276)cAa>cGa	p.Q92R	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	319					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GTGGGACCTCAACATGGAGAG	0.498																																																	0													78	80	80					10																	133761171		2030	4203	6233	SO:0001583	missense	0			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.275A>G	10.37:g.133761171A>G	ENSP00000406501:p.Gln92Arg		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.N289D	ENST00000422256.2	37	c.865		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.37|15.37	2.814095|2.814095	0.50527|0.50527	.|.	.|.	ENSG00000175470|ENSG00000175470	ENST00000455566|ENST00000422256	T|.	0.28069|.	1.63|.	2.98|2.98	1.83|1.83	0.25207|0.25207	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43322|0.43322	0.1242|0.1242	.|.	.|.	.|.	0.23192|0.23192	N|N	0.998146|0.998146	B|.	0.09022|.	0.002|.	B|.	0.16289|.	0.015|.	T|T	0.37337|0.37337	-0.9710|-0.9710	9|5	0.87932|0.87932	D|D	0|0	-8.5713|-8.5713	8.259|8.259	0.31773|0.31773	0.8982:0.0:0.1018:0.0|0.8982:0.0:0.1018:0.0	.|.	320|.	Q66LE6|.	2ABD_HUMAN|.	D|R	289|92	ENSP00000399970:N289D|.	ENSP00000399970:N289D|ENSP00000406501:Q92R	N|Q	+|+	1|2	0|0	PPP2R2D|PPP2R2D	133611161|133611161	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.467000|6.467000	0.73547|0.73547	0.546000|0.546000	0.28920|0.28920	0.533000|0.533000	0.62120|0.62120	AAC|CAA	PPP2R2D	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000175470		0.498	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		-	0	75	0	A	NM_018461		133761171	1	tier1	-	no_errors	ENST00000455566	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G	G	133761171	A	G	133761171	3	3	3	1	0	0	0	0	1	0	0	0	12429	130	5	4	882	4	PPP2R2D	10	133761171	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	20923099	133761171	1773576	138	785											
PPP2R2D	55844	genome.wustl.edu	37	chr10	133769418	133769418	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccgtggacaatgtcattgCcgtggctgccaccaataact	9	9	9	14	2	1	0	1	0	0	0	1	1	1	1	5	2	3	1	5	2	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:133769418C>T	ENST00000422256.2	+	0	1113							Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		AATGTCATTGCCGTGGCTGCC	0.507																																																	0													42	47	45					10																	133769418		2201	4299	6500	SO:0001624	3_prime_UTR_variant	0			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.*220C>T	10.37:g.133769418C>T			A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.A407V	ENST00000422256.2	37	c.1220		10	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303803	0.60305	.	.	ENSG00000175470	ENST00000455566	T	0.32023	1.47	3.9	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.64381	-0.6421	9	0.72032	D	0.01	-20.0878	16.4735	0.84125	0.0:1.0:0.0:0.0	.	438	Q66LE6	2ABD_HUMAN	V	407	ENSP00000399970:A407V	ENSP00000399970:A407V	A	+	2	0	PPP2R2D	133619408	1.000000	0.71417	0.098000	0.21074	0.033000	0.12548	4.943000	0.63554	2.184000	0.69523	0.650000	0.86243	GCC	PPP2R2D	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000175470		0.507	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		-	0	55	0	C	NM_018461		133769418	1	tier1	-	no_errors	ENST00000455566	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.999	T	T	133769418	C	T	133769418	1	4	3	0	1	0	0	0	0	0	0	0	12429	739	26	3		3	PPP2R2D	10	133769418	3'UTR	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	8247	133769418	1765329	139	786											
PRAP1	118471	genome.wustl.edu	37	chr10	135165925	135165925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggaggaagaccaagaccAcatctaccacccccagtagg	14	3	9	15	1	1	2	0	0	1	2	1	4	1	4	6	3	1	1	6	3	4	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr10:135165925A>G	ENST00000433452.2	+	5	709	c.437A>G	c.(436-438)cAc>cGc	p.H146R	PRAP1_ENST00000463201.1_3'UTR|FUOM_ENST00000465384.1_5'Flank|RP11-122K13.7_ENST00000452591.1_RNA|PRAP1_ENST00000423766.1_Missense_Mutation_p.H147R|ZNF511_ENST00000368554.4_Missense_Mutation_p.H305R|PRAP1_ENST00000458230.1_Missense_Mutation_p.H137R			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	146						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GACCAAGACCACATCTACCAC	0.672																																																	0													81	77	78					10																	135165925		2203	4300	6503	SO:0001583	missense	0			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.437A>G	10.37:g.135165925A>G	ENSP00000416126:p.His146Arg		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.H305R	ENST00000433452.2	37	c.914	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184942	0.38609	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230	T;T;T;T	0.52295	0.67;1.35;1.35;1.37	3.37	3.37	0.38596	.	0.000000	0.38326	N	0.001722	T	0.59224	0.2178	L	0.54323	1.7	0.23769	N	0.996894	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.46512	-0.9186	10	0.87932	D	0	-26.9187	8.4934	0.33115	1.0:0.0:0.0:0.0	.	137;147;146	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	R	305;146;147;137	ENSP00000357542:H305R;ENSP00000416126:H146R;ENSP00000409495:H147R;ENSP00000402700:H137R	ENSP00000409495:H147R	H	+	2	0	ZNF511;PRAP1	135015915	0.569000	0.26643	0.991000	0.47740	0.062000	0.15995	1.189000	0.32114	1.785000	0.52413	0.523000	0.50628	CAC	ZNF511	-	NULL	ENSG00000198546		0.672	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	-	0	34	0	A	NM_145202		135165925	1	tier1	-	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	56.25	6	9	SNP	1.000	G	G	135165925	A	G	135165925	3	3	3	1	0	0	0	0	1	0	0	0	12483	159	6	4	455	4	PRAP1	10	135165925	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	1396507	135165925	368822	140	787											
MUC6	4588	genome.wustl.edu	37	chr11	1025814	1025814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggctgctcacccccaggaaGatcttgatggcccgtgagca	8	7	12	14	2	2	3	1	2	1	1	2	4	2	4	3	3	2	3	3	3	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:1025814G>A	ENST00000421673.2	-	22	2840	c.2790C>T	c.(2788-2790)atC>atT	p.I930I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	930	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCAGGAAGATCTTGATGG	0.637																																																	0													40	44	43					11																	1025814		2076	4174	6250	SO:0001819	synonymous_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2790C>T	11.37:g.1025814G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I930	ENST00000421673.2	37	c.2790	CCDS44513.1	11																																																																																			MUC6	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000184956		0.637	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	50	0	G	XM_290540		1025814	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	silent	34.09	29	15	SNP	0.057	A	A	1025814	G	A	1025814	2	1	3	1	0	0	0	0	0	0	0	1	10018	932	33	3		3	MUC6	11	1025814	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		1025814	133980702	141	788											
OR52A5	390054	genome.wustl.edu	37	chr11	5153614	5153614	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctggcaaatgaaaccagaAgatgcctaacattttgggaa	15	9	9	8	0	1	3	0	1	1	2	1	4	1	4	2	2	3	1	2	2	5	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:5153614A>C	ENST00000307388.1	-	1	258	c.259T>G	c.(259-261)Ttc>Gtc	p.F87V		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	87					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAACCAGAAGATGCCTAAC	0.413																																																	0													62	59	60					11																	5153614		2201	4298	6499	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.259T>G	11.37:g.5153614A>C	ENSP00000303469:p.Phe87Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F87V	ENST00000307388.1	37	c.259	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649390	0.67358	.	.	ENSG00000171944	ENST00000307388	T	0.00940	5.52	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000158	T	0.07818	0.0196	M	0.91090	3.175	0.36866	D	0.888643	D	0.89917	1.0	D	0.91635	0.999	T	0.01884	-1.1254	10	0.87932	D	0	.	14.0725	0.64868	1.0:0.0:0.0:0.0	.	87	Q9H2C5	O52A5_HUMAN	V	87	ENSP00000303469:F87V	ENSP00000303469:F87V	F	-	1	0	OR52A5	5110190	0.852000	0.29690	1.000000	0.80357	0.892000	0.51952	3.745000	0.55119	2.186000	0.69663	0.533000	0.62120	TTC	OR52A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171944		0.413	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	-	0	38	0	A	NM_001005160		5153614	-1	tier1	-	no_errors	ENST00000307388	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.894	C	C	5153614	A	C	5153614	3	2	3	1	0	0	0	0	1	0	0	0	11149	72	3	4	694	4	OR52A5	11	5153614	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	4127800	5153614	129852902	142	789											
PAX6	5080	genome.wustl.edu	37	chr11	31824329	31824329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctgccgggtggagtccgGcagtggccgcccgttgacaa	5	8	15	13	4	1	1	0	1	1	0	2	2	2	2	4	4	1	2	4	4	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:31824329G>A	ENST00000379132.3	-	4	344	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S	PAX6_ENST00000241001.8_Missense_Mutation_p.P22S|PAX6_ENST00000379115.4_Missense_Mutation_p.P22S|PAX6_ENST00000379111.2_Missense_Mutation_p.P22S|PAX6_ENST00000419022.1_Missense_Mutation_p.P22S|PAX6_ENST00000379107.2_Missense_Mutation_p.P22S|PAX6_ENST00000379123.5_Missense_Mutation_p.P22S|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379129.2_Missense_Mutation_p.P22S			P26367	PAX6_HUMAN	paired box 6	22	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.		Missing (in AN). {ECO:0000269|PubMed:12634864, ECO:0000269|PubMed:9281415}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTGGAGTCCGGCAGTGGCCGC	0.612									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																								0													26	29	28					11																	31824329		2202	4299	6501	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.64C>T	11.37:g.31824329G>A	ENSP00000368427:p.Pro22Ser		Q6N006|Q99413	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.P22S	ENST00000379132.3	37	c.64	CCDS31451.1	11	.	.	.	.	.	.	.	.	.	.	g	25.7	4.663614	0.88251	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000379107;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000379109;ENST00000455099;ENST00000524853;ENST00000423822;ENST00000438681	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45	4.48	4.48	0.54585	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.054294	0.85682	D	0.000000	D	0.99661	0.9874	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97515	1.0069	10	0.87932	D	0	.	17.3631	0.87356	0.0:0.0:1.0:0.0	.	22;22	F1T0F8;P26367	.;PAX6_HUMAN	S	22	ENSP00000404100:P22S;ENSP00000368427:P22S;ENSP00000368424:P22S;ENSP00000368401:P22S;ENSP00000241001:P22S;ENSP00000368410:P22S;ENSP00000368406:P22S;ENSP00000368418:P22S;ENSP00000368403:P22S;ENSP00000397384:P22S;ENSP00000431585:P22S;ENSP00000388132:P22S;ENSP00000404356:P22S	ENSP00000241001:P22S	P	-	1	0	PAX6	31780905	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.402000	0.97298	2.322000	0.78497	0.450000	0.29827	CCG	PAX6	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,prints_Paired_dom,pfscan_Paired_dom	ENSG00000007372		0.612	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4		0	80	0	G	NM_001604		31824329	-1			no_errors	ENST00000379107	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A	A	31824329	G	A	31824329	3	1	3	1	0	0	0	0	1	0	0	0	11522	1203	42	3	1286	3	PAX6	11	31824329	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	26670715	31824329	103182187	143	790											
OR8H1	219469	genome.wustl.edu	37	chr11	56058355	56058355	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgacaagtgagtaaggaAaaaatacatgggagtgtgaa	20	7	12	2	0	0	3	0	3	0	0	0	5	0	5	0	2	1	1	0	2	8	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:56058355A>C	ENST00000313022.2	-	1	211	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGAGTAAGGAAAAAATACATG	0.398																																																	0													250	239	243					11																	56058355		2201	4296	6497	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.184T>G	11.37:g.56058355A>C	ENSP00000323595:p.Phe62Val		B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F62V	ENST00000313022.2	37	c.184	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675645	0.29783	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.14391	2.51	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.46367	0.1389	H	0.95884	3.735	0.28889	N	0.893932	D	0.89917	1.0	D	0.97110	1.0	T	0.53690	-0.8403	10	0.87932	D	0	.	8.4823	0.33049	0.9012:0.0:0.0988:0.0	.	62	Q8NGG4	OR8H1_HUMAN	V	62;58	ENSP00000323595:F62V	ENSP00000323595:F62V	F	-	1	0	OR8H1	55814931	0.825000	0.29262	0.995000	0.50966	0.030000	0.12068	1.650000	0.37292	1.636000	0.50526	0.240000	0.17902	TTC	OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181693		0.398	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	-	0	96	0	A	NM_001005199		56058355	-1	tier1	-	no_errors	ENST00000313022	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.988	C	C	56058355	A	C	56058355	3	2	3	1	0	0	0	0	1	0	0	0	11276	14	1	4	753	4	OR8H1	11	56058355	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	24234026	56058355	78948161	144	791											
OR5AR1	219493	genome.wustl.edu	37	chr11	56431942	56431942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatgtttatgtacctgAggccaacatccagctactcc	10	11	7	13	0	1	1	1	1	0	0	3	1	3	1	4	1	4	3	4	1	4	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:56431942A>G	ENST00000302969.2	+	1	805	c.781A>G	c.(781-783)Agg>Ggg	p.R261G		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TATGTACCTGAGGCCAACATC	0.507																																																	0													119	106	110					11																	56431942		2201	4296	6497	SO:0001583	missense	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.781A>G	11.37:g.56431942A>G	ENSP00000302639:p.Arg261Gly		Q6IF61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R261G	ENST00000302969.2	37	c.781	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372860	0.61624	.	.	ENSG00000172459	ENST00000302969	T	0.35973	1.28	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000084	T	0.52354	0.1729	M	0.79011	2.435	0.26675	N	0.971649	P	0.51791	0.948	P	0.59761	0.863	T	0.54523	-0.8281	10	0.87932	D	0	.	6.2546	0.20867	0.7554:0.1621:0.0825:0.0	.	261	Q8NGP9	O5AR1_HUMAN	G	261	ENSP00000302639:R261G	ENSP00000302639:R261G	R	+	1	2	OR5AR1	56188518	0.330000	0.24705	1.000000	0.80357	0.993000	0.82548	0.082000	0.14847	2.128000	0.65567	0.467000	0.42956	AGG	OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172459		0.507	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	-	0	49	0	A	NM_001004730		56431942	1	tier1	-	no_errors	ENST00000302969	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.998	G	G	56431942	A	G	56431942	3	3	3	1	0	0	0	0	1	0	0	0	11184	295	11	4	783	4	OR5AR1	11	56431942	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	373587	56431942	78574574	145	792											
SERPING1	710	genome.wustl.edu	37	chr11	57382017	57382017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcagcacaagttccCtgtcttcatggggcgagtat	9	9	12	11	1	2	0	1	0	1	0	3	2	3	1	2	3	2	4	2	3	2	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:57382017C>A	ENST00000278407.4	+	8	1693	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H	SERPING1_ENST00000378324.2_Missense_Mutation_p.P437H|SERPING1_ENST00000403558.1_Missense_Mutation_p.P532H|SERPING1_ENST00000378323.4_Missense_Mutation_p.P494H|SERPING1_ENST00000340687.6_Missense_Mutation_p.P452H	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	489			P -> R (in HAE; phenotype consistent with hereditary angioedema type 2). {ECO:0000269|PubMed:7814636}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CACAAGTTCCCTGTCTTCATG	0.622																																																	0			GRCh37	CM950183	SERPING1	M							36	36	36					11																	57382017		2201	4296	6497	SO:0001583	missense	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.1466C>A	11.37:g.57382017C>A	ENSP00000278407:p.Pro489His		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.P489H	ENST00000278407.4	37	c.1466	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224226	0.79576	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93	4.92	4.92	0.64577	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.93103	0.7804	M	0.86953	2.85	0.51767	D	0.999939	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.83275	0.927;0.996;0.996	D	0.94065	0.7330	10	0.66056	D	0.02	.	16.2539	0.82501	0.0:1.0:0.0:0.0	.	494;489;489	B4E1F0;E9KL26;P05155	.;.;IC1_HUMAN	H	489;452;494;437;532	ENSP00000278407:P489H;ENSP00000341861:P452H;ENSP00000367574:P494H;ENSP00000367575:P437H;ENSP00000384420:P532H	ENSP00000278407:P489H	P	+	2	0	SERPING1	57138593	0.997000	0.39634	0.993000	0.49108	0.964000	0.63967	4.653000	0.61462	2.434000	0.82447	0.561000	0.74099	CCT	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000149131		0.622	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	-	0	55	0	C	NM_000062		57382017	1	tier1	-	no_errors	ENST00000278407	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.995	A	A	57382017	C	A	57382017	3	1	3	1	0	0	0	0	1	0	0	0	14161	681	24	3	1492	3	SERPING1	11	57382017	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	950075	57382017	77624499	146	793											
ZDHHC5	25921	genome.wustl.edu	37	chr11	57464282	57464282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacctaccatgtacaaGtatcggccgggttacagtag	11	8	10	12	3	0	0	0	0	0	0	1	1	0	0	4	2	3	4	4	2	6	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:57464282G>T	ENST00000287169.3	+	10	2421	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.K300N	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	353					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCATGTACAAGTATCGGCCGG	0.512																																																	0													97	86	90					11																	57464282		2201	4296	6497	SO:0001583	missense	0			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1059G>T	11.37:g.57464282G>T	ENSP00000287169:p.Lys353Asn		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.K353N	ENST00000287169.3	37	c.1059	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	g	23.5	4.421265	0.83559	.	.	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.87334	-0.05;0.94;-2.24	5.47	2.48	0.30137	.	0.100642	0.64402	D	0.000002	D	0.84492	0.5484	L	0.56199	1.76	0.50813	D	0.999898	P	0.46512	0.879	P	0.48089	0.566	T	0.81309	-0.0991	10	0.48119	T	0.1	-19.037	5.7695	0.18245	0.2138:0.0:0.6493:0.1369	.	353	Q9C0B5	ZDHC5_HUMAN	N	300;353;187	ENSP00000432202:K300N;ENSP00000287169:K353N;ENSP00000435722:K187N	ENSP00000287169:K353N	K	+	3	2	ZDHHC5	57220858	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.768000	0.38511	0.844000	0.35094	0.645000	0.84053	AAG	ZDHHC5	-	NULL	ENSG00000156599		0.512	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	-	0	41	0	G	NM_015457		57464282	1	tier1	-	no_errors	ENST00000287169	ensembl	human	known	74_37	missense	48.15	14	13	SNP	1.000	T	T	57464282	G	T	57464282	3	4	3	1	0	0	0	0	1	0	0	0	17666	1020	36	3	1093	3	ZDHHC5	11	57464282	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	82265	57464282	77542234	147	794											
WDR74	54663	genome.wustl.edu	37	chr11	62606983	62606983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagcctgccacccacctttCaagatcccagtctcggtgcc	7	8	8	18	2	2	1	1	0	1	1	4	2	3	1	6	1	3	0	6	1	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:62606983C>T	ENST00000525239.1	-	2	597	c.60G>A	c.(58-60)ttG>ttA	p.L20L	RNU2-2P_ENST00000410396.1_RNA|WDR74_ENST00000278856.4_Silent_p.L20L|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Silent_p.L20L|WDR74_ENST00000311713.7_Silent_p.L20L|WDR74_ENST00000525752.1_Intron			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	20					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						ACCCACCTTTCAAGATCCCAG	0.632																																																	0													39	45	43					11																	62606983		2086	4226	6312	SO:0001819	synonymous_variant	0				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"WD repeat domain containing"	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.60G>A	11.37:g.62606983C>T			A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L20	ENST00000525239.1	37	c.60	CCDS44630.1	11	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576438	0.28092	.	.	ENSG00000133316	ENST00000535048	.	.	.	4.28	1.21	0.21127	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40021	-0.9585	4	.	.	.	-8.5329	5.8248	0.18548	0.0:0.6468:0.161:0.1922	.	.	.	.	K	12	.	.	E	-	1	0	WDR74	62363559	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.056000	0.30480	0.415000	0.25817	0.655000	0.94253	GAA	WDR74	-	NULL	ENSG00000133316		0.632	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR74	HGNC	protein_coding	OTTHUMT00000395678.1	-	0	64	0	C	NM_018093		62606983	-1	tier1	-	no_errors	ENST00000278856	ensembl	human	known	74_37	silent	31.03	40	18	SNP	1.000	T	T	62606983	C	T	62606983	2	4	3	1	0	0	0	0	0	0	0	1	17373	825	29	3		3	WDR74	11	62606983	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5142701	62606983	72399533	148	795											
POLD3	10714	genome.wustl.edu	37	chr11	74315814	74315814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttacctacttggtgtctgGcagtctcattcagaatggac	8	14	10	9	0	3	1	2	0	2	1	4	2	3	2	1	3	2	2	1	3	3	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:74315814G>A	ENST00000263681.2	+	3	323	c.194G>A	c.(193-195)gGc>gAc	p.G65D	POLD3_ENST00000527458.1_Missense_Mutation_p.G26D|POLD3_ENST00000532497.1_Intron	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	65					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TTGGTGTCTGGCAGTCTCATT	0.398																																																	0													207	177	187					11																	74315814		2200	4293	6493	SO:0001583	missense	0			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.194G>A	11.37:g.74315814G>A	ENSP00000263681:p.Gly65Asp		B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.G65D	ENST00000263681.2	37	c.194	CCDS8233.1	11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500093	0.85176	.	.	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.81331	0.4800	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84668	0.0710	9	0.87932	D	0	-10.1184	13.4106	0.60940	0.0:0.0:1.0:0.0	.	65	Q15054	DPOD3_HUMAN	D	26;65;26;65;26;26	.	ENSP00000263681:G65D	G	+	2	0	POLD3	73993462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.367000	0.90113	2.537000	0.85549	0.467000	0.42956	GGC	POLD3	-	pfam_DNA_polymerase_subunit_Cdc27	ENSG00000077514		0.398	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	-	0	76	0	G	NM_006591		74315814	1	tier1	-	no_errors	ENST00000263681	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	74315814	G	A	74315814	3	1	3	1	0	0	0	0	1	0	0	0	12231	1203	42	3	204	3	POLD3	11	74315814	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	11708831	74315814	60690702	149	796											
CNTN5	53942	genome.wustl.edu	37	chr11	99690322	99690322	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacttcatatgctgctttgTtaagaattaagaagagttca	13	14	7	7	0	2	3	2	0	0	3	2	3	2	3	1	0	2	4	1	0	5	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:99690322T>A	ENST00000524871.1	+	4	393	c.103T>A	c.(103-105)Tta>Ata	p.L35I	CNTN5_ENST00000528682.1_Missense_Mutation_p.L35I|CNTN5_ENST00000279463.3_Missense_Mutation_p.L35I|CNTN5_ENST00000527185.1_Missense_Mutation_p.L35I|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	35					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGCTGCTTTGTTAAGAATTAA	0.363																																																	0													129	127	127					11																	99690322		1871	4114	5985	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.103T>A	11.37:g.99690322T>A	ENSP00000435637:p.Leu35Ile		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L35I	ENST00000524871.1	37	c.103	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768877	0.49680	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56444	0.46;0.53;0.53;0.53	5.06	-0.0656	0.13768	.	0.532665	0.16693	N	0.203452	T	0.28995	0.0720	N	0.14661	0.345	0.39436	D	0.967168	B;B	0.14438	0.01;0.01	B;B	0.15052	0.012;0.012	T	0.04360	-1.0957	10	0.39692	T	0.17	.	5.2743	0.15641	0.0:0.4637:0.1401:0.3962	.	35;35	E9PKE8;O94779	.;CNTN5_HUMAN	I	35	ENSP00000433575:L35I;ENSP00000436185:L35I;ENSP00000435637:L35I;ENSP00000279463:L35I	ENSP00000279463:L35I	L	+	1	2	CNTN5	99195532	0.932000	0.31603	0.931000	0.37212	0.446000	0.32137	0.031000	0.13710	0.085000	0.17107	-0.248000	0.11899	TTA	CNTN5	-	NULL	ENSG00000149972		0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	51	0	T	NM_014361		99690322	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.875	A	A	99690322	T	A	99690322	3	1	3	1	0	0	0	0	1	0	0	0	3651	1722	60	5	109	5	CNTN5	11	99690322	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	25374508	99690322	35316194	150	797											
DDI1	414301	genome.wustl.edu	37	chr11	103908168	103908168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacacagccgacccactGgatcgggaagctcaggccaa	11	5	10	15	2	2	0	1	0	1	0	3	3	2	2	3	3	3	1	3	3	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:103908168G>T	ENST00000302259.3	+	1	861	c.618G>T	c.(616-618)ctG>ctT	p.L206L	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	206							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCGACCCACTGGATCGGGAAG	0.507																																																	0													69	78	75					11																	103908168		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.618G>T	11.37:g.103908168G>T			Q7Z4U6|Q8WTS3	Silent	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.L206	ENST00000302259.3	37	c.618	CCDS31660.1	11																																																																																			DDI1	-	NULL	ENSG00000170967		0.507	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	-	0	31	0	G	NM_001001711		103908168	1	tier1	-	no_errors	ENST00000302259	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.992	T	T	103908168	G	T	103908168	2	4	3	1	0	0	0	0	0	0	0	1	4337	1335	47	3		3	DDI1	11	103908168	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	4217846	103908168	31098348	151	798											
GRIA4	2893	genome.wustl.edu	37	chr11	105483060	105483060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttttcgattagcaatttTtcttcataacaccagcccca	10	15	4	12	1	2	0	1	0	1	0	3	1	2	0	3	0	4	2	3	0	3	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:105483060T>G	ENST00000530497.1	+	2	146	c.146T>G	c.(145-147)tTt>tGt	p.F49C	GRIA4_ENST00000525187.1_Missense_Mutation_p.F49C|GRIA4_ENST00000393125.2_Missense_Mutation_p.F49C|GRIA4_ENST00000282499.5_Missense_Mutation_p.F49C|GRIA4_ENST00000527669.1_Missense_Mutation_p.F49C|GRIA4_ENST00000428631.2_Missense_Mutation_p.F49C|GRIA4_ENST00000393127.2_Missense_Mutation_p.F49C			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	49					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTAGCAATTTTTCTTCATAAC	0.423																																																	0													144	125	131					11																	105483060		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.146T>G	11.37:g.105483060T>G	ENSP00000435775:p.Phe49Cys		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F49C	ENST00000530497.1	37	c.146	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	T	18.65	3.670137	0.67814	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.91	5.91	0.95273	Extracellular ligand-binding receptor (1);	0.165316	0.42548	D	0.000697	T	0.27629	0.0679	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.76494	0.973;0.998;0.998;0.99;0.999	P;D;D;D;D	0.76071	0.886;0.917;0.95;0.91;0.987	T	0.30707	-0.9969	10	0.40728	T	0.16	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	49;49;79;49;49	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	C	49	ENSP00000376833:F49C;ENSP00000282499:F49C;ENSP00000376835:F49C;ENSP00000415551:F49C;ENSP00000432443:F49C;ENSP00000435775:F49C;ENSP00000432180:F49C	ENSP00000282499:F49C	F	+	2	0	GRIA4	104988270	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	TTT	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.423	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0	62	0	T			105483060	1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	G	G	105483060	T	G	105483060	3	3	3	1	0	0	0	0	1	0	0	0	6797	1841	64	4	152	4	GRIA4	11	105483060	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	1574892	105483060	29523456	152	799											
ACAT1	38	genome.wustl.edu	37	chr11	108018099	108018099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaggtgcttctgccatGctaattcagaagctgtagac	10	10	13	8	0	2	2	1	0	1	2	2	4	2	4	1	3	4	4	1	3	3	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:108018099G>A	ENST00000265838.4	+	12	1357	c.1266G>A	c.(1264-1266)atG>atA	p.M422I		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	422					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CTTCTGCCATGCTAATTCAGA	0.473																																																	0													139	123	129					11																	108018099		2201	4298	6499	SO:0001583	missense	0			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1266G>A	11.37:g.108018099G>A	ENSP00000265838:p.Met422Ile		B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.M422I	ENST00000265838.4	37	c.1266	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	G	1.974	-0.435863	0.04636	.	.	ENSG00000075239	ENST00000265838	D	0.92149	-2.98	5.57	-0.9	0.10544	Thiolase-like, subgroup (1);Thiolase-like (1);Thiolase, C-terminal (1);	0.921636	0.09563	N	0.785245	T	0.70988	0.3287	N	0.02420	-0.555	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.66654	-0.5869	10	0.02654	T	1	-12.2986	0.2342	0.00184	0.3389:0.2294:0.2017:0.23	.	422	P24752	THIL_HUMAN	I	422	ENSP00000265838:M422I	ENSP00000265838:M422I	M	+	3	0	ACAT1	107523309	0.358000	0.24947	0.323000	0.25347	0.914000	0.54420	-0.282000	0.08445	-0.106000	0.12110	0.655000	0.94253	ATG	ACAT1	-	pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000075239		0.473	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1		0	47	0	G	NM_000019		108018099	1			no_errors	ENST00000265838	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.592	A	A	108018099	G	A	108018099	3	1	3	1	0	0	0	0	1	0	0	0	121	1319	46	3	1312	3	ACAT1	11	108018099	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2535039	108018099	26988417	153	800											
PCSK7	9159	genome.wustl.edu	37	chr11	117100474	117100474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacccagggaaccagtaaGaagagcccggctaattccag	14	5	11	11	1	0	3	0	1	0	2	1	4	1	4	4	2	2	2	4	2	4	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:117100474G>A	ENST00000320934.3	-	3	717	c.87C>T	c.(85-87)ttC>ttT	p.F29F	RNF214_ENST00000531287.1_5'Flank|RNF214_ENST00000531452.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	29					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GAACCAGTAAGAAGAGCCCGG	0.652			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													18	21	20					11																	117100474		2196	4295	6491	SO:0001819	synonymous_variant	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.87C>T	11.37:g.117100474G>A			B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.F29	ENST00000320934.3	37	c.87	CCDS8382.1	11																																																																																			PCSK7	-	NULL	ENSG00000160613		0.652	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	-	0	38	0	G	NM_004716		117100474	-1	tier1	-	no_errors	ENST00000320934	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.813	A	A	117100474	G	A	117100474	2	1	3	1	0	0	0	0	0	0	0	1	11644	933	33	3		3	PCSK7	11	117100474	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	9082375	117100474	17906042	154	801											
GRIK4	2900	genome.wustl.edu	37	chr11	120690618	120690618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccgcctgcctcatctgtgCcaaagcagaatgtaagtttc	10	10	8	13	1	2	1	1	0	1	1	3	1	2	1	4	0	3	3	4	0	3	2	rs41297895	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:120690618C>T	ENST00000527524.2	+	6	787	c.500C>T	c.(499-501)gCc>gTc	p.A167V	GRIK4_ENST00000438375.2_Missense_Mutation_p.A167V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	167					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CTCATCTGTGCCAAAGCAGAA	0.562																																																	0													151	143	146					11																	120690618		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.500C>T	11.37:g.120690618C>T	ENSP00000435648:p.Ala167Val		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A167V	ENST00000527524.2	37	c.500	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687423	0.88639	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.83335	-1.71;-1.71	4.71	4.71	0.59529	Extracellular ligand-binding receptor (1);	0.049277	0.85682	D	0.000000	D	0.88735	0.6517	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.60473	0.875;0.875	D	0.90045	0.4145	10	0.72032	D	0.01	.	17.8548	0.88759	0.0:1.0:0.0:0.0	.	167;167	A6H8K8;Q16099	.;GRIK4_HUMAN	V	167	ENSP00000435648:A167V;ENSP00000404063:A167V	ENSP00000404063:A167V	A	+	2	0	GRIK4	120195828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.282000	0.78630	2.435000	0.82474	0.561000	0.74099	GCC	GRIK4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000149403		0.562	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	28	0	C	NM_014619		120690618	1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	120690618	C	T	120690618	3	4	3	1	0	0	0	0	1	0	0	0	6803	739	26	3	514	3	GRIK4	11	120690618	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	3590144	120690618	14315898	155	802											
GRIK4	2900	genome.wustl.edu	37	chr11	120776104	120776104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggcagagatcctcCgattcaactacaagatccgc	12	7	10	12	2	1	2	1	0	0	2	4	5	4	3	3	2	3	2	3	2	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:120776104C>G	ENST00000527524.2	+	13	1665	c.1378C>G	c.(1378-1380)Cga>Gga	p.R460G	GRIK4_ENST00000438375.2_Missense_Mutation_p.R460G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	460					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AGAGATCCTCCGATTCAACTA	0.582																																																	0													164	161	162					11																	120776104		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1378C>G	11.37:g.120776104C>G	ENSP00000435648:p.Arg460Gly		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R460G	ENST00000527524.2	37	c.1378	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	C	6.774	0.511746	0.12944	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.06142	3.34;3.34	5.47	4.55	0.56014	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.059773	0.64402	D	0.000003	T	0.02848	0.0085	N	0.00890	-1.11	0.24712	N	0.993193	B;P	0.35575	0.223;0.51	B;B	0.42827	0.399;0.399	T	0.47100	-0.9143	10	0.02654	T	1	.	15.6054	0.76664	0.1388:0.8612:0.0:0.0	.	460;460	A6H8K8;Q16099	.;GRIK4_HUMAN	G	460	ENSP00000435648:R460G;ENSP00000404063:R460G	ENSP00000404063:R460G	R	+	1	2	GRIK4	120281314	0.998000	0.40836	0.377000	0.26055	0.936000	0.57629	4.133000	0.57983	1.281000	0.44480	-0.182000	0.12963	CGA	GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000149403		0.582	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0	44	0	C	NM_014619		120776104	1			no_errors	ENST00000527524	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.375	G	G	120776104	C	G	120776104	3	3	3	1	0	0	0	0	1	0	0	0	6803	644	23	5	1420	5	GRIK4	11	120776104	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	85486	120776104	14230412	156	803											
TECTA	7007	genome.wustl.edu	37	chr11	121028656	121028656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtcagacgaggagtgtgCgctgcgcaacggggtgcgcg	8	5	18	10	6	1	1	1	0	0	1	1	3	1	2	0	3	4	2	0	3	2	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:121028656C>T	ENST00000392793.1	+	14	4683	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V	TECTA_ENST00000264037.2_Missense_Mutation_p.A1471V			O75443	TECTA_HUMAN	tectorin alpha	1471					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGAGTGTGCGCTGCGCAAC	0.667																																																	0													42	40	41					11																	121028656		2203	4298	6501	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4412C>T	11.37:g.121028656C>T	ENSP00000376543:p.Ala1471Val			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.A1471V	ENST00000392793.1	37	c.4412	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949295	0.53186	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04862	3.54;3.54	5.55	4.58	0.56647	VWC out (1);	0.132425	0.50627	D	0.000116	T	0.03871	0.0109	N	0.11255	0.115	0.35126	D	0.767478	B	0.29862	0.259	B	0.19946	0.027	T	0.49214	-0.8963	10	0.23302	T	0.38	.	15.7864	0.78306	0.0:0.7558:0.2441:0.0	.	1471	O75443	TECTA_HUMAN	V	1471	ENSP00000376543:A1471V;ENSP00000264037:A1471V	ENSP00000264037:A1471V	A	+	2	0	TECTA	120533866	0.813000	0.29090	0.999000	0.59377	0.959000	0.62525	1.558000	0.36309	2.600000	0.87896	0.462000	0.41574	GCG	TECTA	-	smart_VWC_out	ENSG00000109927		0.667	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1		0	29	0	C	NM_005422		121028656	1			no_errors	ENST00000264037	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.995	T	T	121028656	C	T	121028656	3	4	3	1	0	0	0	0	1	0	0	0	15794	768	27	1	4462	1	TECTA	11	121028656	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	252552	121028656	13977860	157	804											
NCAPD3	23310	genome.wustl.edu	37	chr11	134073622	134073622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagtgtgcaaagctggaCagtgccttgctgcggacagt	10	8	14	9	1	0	1	0	0	0	1	0	3	0	3	1	2	5	3	1	2	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr11:134073622C>T	ENST00000534548.2	-	11	1459	c.1395G>A	c.(1393-1395)ctG>ctA	p.L465L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	465					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CAAAGCTGGACAGTGCCTTGC	0.488																																																	0													66	64	65					11																	134073622		2201	4297	6498	SO:0001819	synonymous_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1395G>A	11.37:g.134073622C>T			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L465	ENST00000534548.2	37	c.1395	CCDS31723.1	11																																																																																			NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0	55	0	C	NM_015261		134073622	-1			no_errors	ENST00000534548	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.110	T	T	134073622	C	T	134073622	2	4	3	1	0	0	0	0	0	0	0	1	10245	465	17	3		3	NCAPD3	11	134073622	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	13044966	134073622	932894	158	805											
MFAP5	8076	genome.wustl.edu	37	chr12	8800754	8800754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggaagtaattggagcgaCggagtctcctagggggcaga	10	7	17	7	3	1	1	0	0	1	1	3	5	1	4	1	5	1	2	1	5	3	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:8800754C>T	ENST00000359478.2	-	10	642	c.455G>A	c.(454-456)cGt>cAt	p.R152H	MFAP5_ENST00000396549.2_Missense_Mutation_p.R142H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R130H|MFAP5_ENST00000433590.2_Missense_Mutation_p.R127H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R142H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R88H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	152					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATTGGAGCGACGGAGTCTCCT	0.453																																																	0													78	76	77					12																	8800754		2203	4300	6503	SO:0001583	missense	0			AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.455G>A	12.37:g.8800754C>T	ENSP00000352455:p.Arg152His		B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	pfam_MAGP	p.R152H	ENST00000359478.2	37	c.455	CCDS8595.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.36|19.36	3.813113|3.813113	0.70912|0.70912	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000535336;ENST00000540087|ENST00000535411	.|.	.|.	.|.	4.79|4.79	1.98|1.98	0.26296|0.26296	.|.	0.151689|.	0.41001|.	N|.	0.000979|.	T|T	0.30634|0.30634	0.0771|0.0771	L|L	0.29908|0.29908	0.895|0.895	0.28041|0.28041	N|N	0.933734|0.933734	D;D;D|.	0.64830|.	0.994;0.994;0.994|.	P;P;P|.	0.51016|.	0.656;0.656;0.656|.	T|T	0.22765|0.22765	-1.0207|-1.0207	9|5	0.87932|.	D|.	0|.	-12.7388|-12.7388	6.2914|6.2914	0.21061|0.21061	0.0:0.6967:0.0:0.3033|0.0:0.6967:0.0:0.3033	.|.	127;152;142|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	H|I	58;152;127;142;130;88;142|142	.|.	ENSP00000352455:R152H|.	R|V	-|-	2|1	0|0	MFAP5|MFAP5	8692021|8692021	0.879000|0.879000	0.30193|0.30193	0.649000|0.649000	0.29536|0.29536	0.964000|0.964000	0.63967|0.63967	1.443000|1.443000	0.35057|0.35057	0.739000|0.739000	0.32628|0.32628	0.563000|0.563000	0.77884|0.77884	CGT|GTC	MFAP5	-	NULL	ENSG00000197614		0.453	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP5	HGNC	protein_coding	OTTHUMT00000400656.2	-	0	26	0	C	NM_003480		8800754	-1	tier1	-	no_errors	ENST00000359478	ensembl	human	known	74_37	missense	48.39	16	15	SNP	0.442	T	T	8800754	C	T	8800754	3	4	3	1	0	0	0	0	1	0	0	0	9556	536	19	1	70	1	MFAP5	12	8800754	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09		8800754	125051141	159	806											
TMEM117	84216	genome.wustl.edu	37	chr12	44782403	44782403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgaacgaatctactagtgCaacagaagctgatcaagacc	15	8	9	9	1	2	4	1	2	1	2	2	5	2	4	1	0	5	3	1	0	7	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:44782403C>T	ENST00000266534.3	+	8	1620	c.1493C>T	c.(1492-1494)gCa>gTa	p.A498V	TMEM117_ENST00000536799.1_Missense_Mutation_p.A394V|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	498						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCTACTAGTGCAACAGAAGCT	0.428																																																	0													155	148	150					12																	44782403		2203	4300	6503	SO:0001583	missense	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1493C>T	12.37:g.44782403C>T	ENSP00000266534:p.Ala498Val			Missense_Mutation	SNP	NULL	p.A498V	ENST00000266534.3	37	c.1493	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	4.547	0.101501	0.08731	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T	0.44482	0.92	5.73	-1.83	0.07833	.	1.774080	0.02519	N	0.092365	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08391	-1.0724	10	0.36615	T	0.2	3.1507	2.9646	0.05903	0.1065:0.4894:0.1033:0.3008	.	394;498	F5H3Q2;Q9H0C3	.;TM117_HUMAN	V	498;394;246	ENSP00000266534:A498V	ENSP00000266534:A498V	A	+	2	0	TMEM117	43068670	0.000000	0.05858	0.000000	0.03702	0.569000	0.35902	-0.268000	0.08607	-0.732000	0.04856	0.650000	0.86243	GCA	TMEM117	-	NULL	ENSG00000139173		0.428	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1		0	16	0	C	NM_032256		44782403	1			no_errors	ENST00000266534	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.000	T	T	44782403	C	T	44782403	3	4	3	1	0	0	0	0	1	0	0	0	16078	710	25	3	1519	3	TMEM117	12	44782403	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	35981649	44782403	89069492	160	807											
NELL2	4753	genome.wustl.edu	37	chr12	44915837	44915837	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtcaccactgttatacaaAgtttccccattttgatggag	10	14	8	9	0	1	1	1	1	0	0	2	2	2	2	3	1	1	2	3	1	3	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:44915837A>C	ENST00000429094.2	-	18	2625	c.2121T>G	c.(2119-2121)acT>acG	p.T707T	NELL2_ENST00000549027.1_Silent_p.T706T|NELL2_ENST00000452445.2_Silent_p.T707T|NELL2_ENST00000437801.2_Silent_p.T757T|NELL2_ENST00000395487.2_Silent_p.T706T|NELL2_ENST00000551601.1_Silent_p.T659T|NELL2_ENST00000333837.4_Silent_p.T730T	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	707	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGTTATACAAAGTTTCCCCAT	0.453																																																	0													136	123	127					12																	44915837		2203	4300	6503	SO:0001819	synonymous_variant	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2121T>G	12.37:g.44915837A>C			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.T757	ENST00000429094.2	37	c.2271	CCDS8746.1	12																																																																																			NELL2	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000184613		0.453	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	54	0	A	NM_006159		44915837	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.001	C	C	44915837	A	C	44915837	2	2	3	1	0	0	0	0	0	0	0	1	10373	59	3	4		4	NELL2	12	44915837	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	133434	44915837	88936058	161	808											
TMEM106C	79022	genome.wustl.edu	37	chr12	48360478	48360478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttcaggtgaattttaccGggaaggccgagatgggagga	11	10	15	5	2	1	2	1	1	0	1	1	6	1	5	2	5	1	0	2	5	3	4	rs142283364		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:48360478G>T	ENST00000429772.2	+	6	678	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	TMEM106C_ENST00000552546.1_Missense_Mutation_p.G118W|TMEM106C_ENST00000552561.1_Missense_Mutation_p.G189W|TMEM106C_ENST00000256686.6_Missense_Mutation_p.G170W|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000449758.2_Missense_Mutation_p.G170W|TMEM106C_ENST00000550552.1_Missense_Mutation_p.G170W	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	189						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GAATTTTACCGGGAAGGCCGA	0.453																																																	0								G	TRP/GLY,TRP/GLY,TRP/GLY,TRP/GLY	0,4406		0,0,2203	166	157	160		508,565,508,565	2.1	0	12	dbSNP_134	160	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	TMEM106C	NM_001143841.1,NM_001143842.1,NM_001143843.1,NM_024056.3	184,184,184,184	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	170/232,189/251,170/232,189/251	48360478	2,13004	2203	4300	6503	SO:0001583	missense	0			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.565G>T	12.37:g.48360478G>T	ENSP00000400471:p.Gly189Trp		B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.G189W	ENST00000429772.2	37	c.565	CCDS8758.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.61|12.61	1.989257|1.989257	0.35131|0.35131	0.0|0.0	2.33E-4|2.33E-4	ENSG00000134291|ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000546749;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640|ENST00000547682	T;T;T;T;T;T;T;T|.	0.21734|.	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99|.	4.2|4.2	2.07|2.07	0.26955|0.26955	.|.	0.313725|.	0.28653|.	N|.	0.014589|.	T|T	0.21267|0.21267	0.0512|0.0512	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	D;P|.	0.56968|.	0.978;0.499|.	P;B|.	0.55260|.	0.772;0.061|.	T|T	0.24261|0.24261	-1.0165|-1.0165	10|5	0.49607|.	T|.	0.09|.	0.5637|0.5637	8.2344|8.2344	0.31616|0.31616	0.2363:0.0:0.7637:0.0|0.2363:0.0:0.7637:0.0	.|.	189;170|.	Q9BVX2;Q9BVX2-2|.	T106C_HUMAN;.|.	W|L	170;189;53;118;170;189;170;99|56	ENSP00000256686:G170W;ENSP00000446657:G189W;ENSP00000446622:G53W;ENSP00000448268:G118W;ENSP00000449737:G170W;ENSP00000400471:G189W;ENSP00000402705:G170W;ENSP00000447254:G99W|.	ENSP00000256686:G170W|.	G|R	+|+	1|2	0|0	TMEM106C|TMEM106C	46646745|46646745	0.658000|0.658000	0.27402|0.27402	0.002000|0.002000	0.10522|0.10522	0.996000|0.996000	0.88848|0.88848	3.915000|3.915000	0.56409|0.56409	0.549000|0.549000	0.28973|0.28973	0.655000|0.655000	0.94253|0.94253	GGG|CGG	TMEM106C	-	pfam_DUF1356_TMEM106	ENSG00000134291		0.453	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106C	HGNC	protein_coding	OTTHUMT00000406452.1		0	63	0	G	NM_024056		48360478	1			no_errors	ENST00000429772	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.031	T	T	48360478	G	T	48360478	3	4	3	1	0	0	0	0	1	0	0	0	16069	1116	39	2	583	2	TMEM106C	12	48360478	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	3444641	48360478	85491417	162	809											
STAB2	55576	genome.wustl.edu	37	chr12	104014254	104014254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgattccctagagtgcccaGgtggagcggggtcaccctgc	6	9	14	12	1	1	2	1	1	0	1	2	3	2	3	3	4	3	0	3	4	1	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:104014254G>T	ENST00000388887.2	+	4	544	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C		NM_017564.9	NP_060034.9			stabilin 2									p.G114C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAGTGCCCAGGTGGAGCGGG	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											89	76	80					12																	104014254		2202	4296	6498	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.340G>T	12.37:g.104014254G>T	ENSP00000373539:p.Gly114Cys			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G114C	ENST00000388887.2	37	c.340	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600875	0.66332	.	.	ENSG00000136011	ENST00000388887	D	0.87809	-2.3	4.98	4.98	0.66077	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.205963	0.41294	D	0.000903	D	0.94571	0.8251	M	0.93594	3.435	0.47441	D	0.999427	D	0.89917	1.0	D	0.68943	0.961	D	0.95186	0.8304	10	0.54805	T	0.06	.	14.1125	0.65132	0.0:0.0:1.0:0.0	.	114	Q8WWQ8	STAB2_HUMAN	C	114	ENSP00000373539:G114C	ENSP00000373539:G114C	G	+	1	0	STAB2	102538384	1.000000	0.71417	0.993000	0.49108	0.741000	0.42261	4.980000	0.63812	2.464000	0.83262	0.549000	0.68633	GGT	STAB2	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000136011		0.488	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1		0	58	0	G			104014254	1			no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.995	T	T	104014254	G	T	104014254	3	4	3	1	0	0	0	0	1	0	0	0	15285	1000	35	3	354	3	STAB2	12	104014254	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	55653776	104014254	29837641	163	810											
BTBD11	121551	genome.wustl.edu	37	chr12	108045467	108045467	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagcttctgtctgctgctaAgtttttccagctggaggctt	5	17	10	9	0	2	0	0	0	2	0	3	1	3	1	1	2	4	6	1	2	2	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:108045467A>C	ENST00000280758.5	+	16	3536	c.3008A>C	c.(3007-3009)aAg>aCg	p.K1003T	BTBD11_ENST00000357167.4_Missense_Mutation_p.K540T|BTBD11_ENST00000420571.2_Missense_Mutation_p.K884T|BTBD11_ENST00000494235.2_Missense_Mutation_p.K82T|Y_RNA_ENST00000410228.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1003						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCTGCTAAGTTTTTCCAG	0.438																																																	0													100	97	98					12																	108045467		2203	4300	6503	SO:0001583	missense	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3008A>C	12.37:g.108045467A>C	ENSP00000280758:p.Lys1003Thr		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.K1003T	ENST00000280758.5	37	c.3008	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883579	0.72410	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.14	5.14	0.70334	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.41573	1.285	0.58432	D	0.999999	D;D	0.64830	0.991;0.994	D;D	0.76575	0.988;0.946	T	0.04781	-1.0927	10	0.38643	T	0.18	.	15.235	0.73422	1.0:0.0:0.0:0.0	.	540;1003	E9PHS4;A6QL63	.;BTBDB_HUMAN	T	1003;884;540;82	ENSP00000280758:K1003T;ENSP00000413889:K884T;ENSP00000349690:K540T;ENSP00000448322:K82T	ENSP00000280758:K1003T	K	+	2	0	BTBD11	106569597	1.000000	0.71417	0.978000	0.43139	0.941000	0.58515	8.757000	0.91657	2.050000	0.60909	0.533000	0.62120	AAG	BTBD11	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000151136		0.438	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	-	0	55	0	A	NM_152322		108045467	1	tier1	-	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	67.50	13	27	SNP	1.000	C	C	108045467	A	C	108045467	3	2	3	1	0	0	0	0	1	0	0	0	1543	72	3	4	3175	4	BTBD11	12	108045467	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	4031213	108045467	25806428	164	811											
RPLP0	6175	genome.wustl.edu	37	chr12	120636490	120636490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagcatgttcagcagcGtggcttcgctggctcccact	5	12	12	12	2	1	1	1	1	0	0	3	1	2	1	1	2	3	7	1	2	0	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:120636490G>T	ENST00000551150.1	-	5	833	c.518C>A	c.(517-519)aCg>aAg	p.T173K	PXN-AS1_ENST00000542314.1_RNA|RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000313104.5_Intron|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000546989.1_Intron|RPLP0_ENST00000228306.4_Missense_Mutation_p.T173K|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.T173K			P05388	RLA0_HUMAN	ribosomal protein, large, P0	173					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTCAGCAGCGTGGCTTCGCT	0.517																																																	0													79	75	76					12																	120636490		2203	4297	6500	SO:0001583	missense	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"L ribosomal proteins"	10371	protein-coding gene	gene with protein product	"acidic ribosomal phosphoprotein P0"	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.518C>A	12.37:g.120636490G>T	ENSP00000449328:p.Thr173Lys		Q3B7A4|Q9BVK4	Missense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12	p.T173K	ENST00000551150.1	37	c.518	CCDS9193.1	12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390778	0.82902	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	U	0.000000	T	0.81059	0.4744	M	0.93420	3.415	0.80722	D	1	B	0.21520	0.057	B	0.24701	0.055	T	0.81276	-0.1006	9	0.87932	D	0	.	19.4178	0.94709	0.0:0.0:1.0:0.0	.	173	P05388	RLA0_HUMAN	K	173;173;173;124;153;173	.	ENSP00000339027:T173K	T	-	2	0	RPLP0	119120873	1.000000	0.71417	0.954000	0.39281	0.987000	0.75469	9.707000	0.98725	2.601000	0.87937	0.655000	0.94253	ACG	RPLP0	-	NULL	ENSG00000089157		0.517	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	-	0	89	0	G	NM_053275		120636490	-1	tier1	-	no_errors	ENST00000228306	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	120636490	G	T	120636490	3	4	3	1	0	0	0	0	1	0	0	0	13649	1145	40	2	447	2	RPLP0	12	120636490	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	12591023	120636490	13215405	165	812											
WDR66	144406	genome.wustl.edu	37	chr12	122359577	122359577	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccagtcaatcacatcAggaattttcccagtaagtag	13	11	7	10	0	3	0	3	0	0	0	5	2	5	1	2	1	0	2	2	1	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:122359577A>G	ENST00000288912.4	+	2	1220	c.366A>G	c.(364-366)tcA>tcG	p.S122S	WDR66_ENST00000397454.2_Silent_p.S122S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	122							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAATCACATCAGGAATTTTCC	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)												0													104	98	100					12																	122359577		1915	4139	6054	SO:0001819	synonymous_variant	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.366A>G	12.37:g.122359577A>G			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S122	ENST00000288912.4	37	c.366	CCDS41853.1	12																																																																																			WDR66	-	NULL	ENSG00000158023		0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0	46	0	A	NM_144668		122359577	1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.000	G	G	122359577	A	G	122359577	2	3	3	1	0	0	0	0	0	0	0	1	17366	175	7	4		4	WDR66	12	122359577	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	1723087	122359577	11492318	166	813											
TMEM132D	121256	genome.wustl.edu	37	chr12	129566470	129566470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccccagggccggccgccTcagccacaaactgcgtcagg	7	4	12	18	3	2	0	2	0	0	0	3	0	3	0	6	3	3	0	6	3	1	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr12:129566470T>C	ENST00000422113.2	-	7	2083	c.1757A>G	c.(1756-1758)gAg>gGg	p.E586G	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E124G	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	586					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCGGCCGCCTCAGCCACAAA	0.652																																																	0													39	42	41					12																	129566470		2203	4299	6502	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1757A>G	12.37:g.129566470T>C	ENSP00000408581:p.Glu586Gly		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.E586G	ENST00000422113.2	37	c.1757	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710523	0.68730	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13420	2.59;2.59	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	T	0.42177	0.1191	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.89917	1.0;0.986	D;D	0.76575	0.988;0.921	T	0.49113	-0.8973	9	.	.	.	-46.3619	14.1971	0.65679	0.0:0.0:0.0:1.0	.	586;124	Q14C87;Q14C87-2	T132D_HUMAN;.	G	124;586	ENSP00000374092:E124G;ENSP00000408581:E586G	.	E	-	2	0	TMEM132D	128132423	1.000000	0.71417	0.402000	0.26371	0.624000	0.37722	5.998000	0.70653	1.745000	0.51790	0.459000	0.35465	GAG	TMEM132D	-	NULL	ENSG00000151952		0.652	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0	77	0	T	NM_133448		129566470	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	13.79	50	8	SNP	0.974	C	C	129566470	T	C	129566470	3	2	3	1	0	0	0	0	1	0	0	0	16094	1551	54	4	1554	4	TMEM132D	12	129566470	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	7206893	129566470	4285425	167	814											
ZMYM2	7750	genome.wustl.edu	37	chr13	20633622	20633622	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatatgttccagtgcctAtccctgtgcctgtgtatatc	8	14	8	11	0	0	1	0	0	0	1	3	1	2	1	4	0	2	2	4	0	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:20633622A>T	ENST00000382874.2	+	17	2849	c.2659A>T	c.(2659-2661)Atc>Ttc	p.I887F	ZMYM2_ENST00000382883.3_3'UTR|ZMYM2_ENST00000382869.3_Missense_Mutation_p.I887F|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I887F	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	887					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TCCAGTGCCTATCCCTGTGCC	0.378																																																	0													237	208	217					13																	20633622		1923	4137	6060	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2659A>T	13.37:g.20633622A>T	ENSP00000372327:p.Ile887Phe		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.I887F	ENST00000382874.2	37	c.2659	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	A	18.43	3.623034	0.66901	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.27890	1.64	5.32	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.73598	2.24	0.80722	D	1	B	0.32968	0.392	B	0.34346	0.18	T	0.19386	-1.0307	10	0.62326	D	0.03	-4.8301	11.0736	0.48019	0.9271:0.0:0.0729:0.0	.	887	Q9UBW7	ZMYM2_HUMAN	F	887;887;885;885;265	ENSP00000372322:I887F	ENSP00000372322:I887F	I	+	1	0	ZMYM2	19531622	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	3.164000	0.50770	0.874000	0.35823	0.460000	0.39030	ATC	ZMYM2	-	NULL	ENSG00000121741		0.378	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	-	0	83	0	A	NM_003453		20633622	1	tier1	-	no_errors	ENST00000382869	ensembl	human	known	74_37	missense	66.25	27	53	SNP	1.000	T	T	20633622	A	T	20633622	3	4	3	1	0	0	0	0	1	0	0	0	17748	449	16	5	2713	5	ZMYM2	13	20633622	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09		20633622	94536256	168	815											
CRYL1	51084	genome.wustl.edu	37	chr13	20978792	20978792	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggttaaccttctcagcAgtggccctggaaaactctgg	9	10	10	12	0	2	0	1	0	2	0	3	1	2	1	3	4	3	2	3	4	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:20978792A>T	ENST00000298248.7	-	7	890	c.828T>A	c.(826-828)acT>acA	p.T276T	CRYL1_ENST00000382812.1_Silent_p.T254T	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	276					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCTTCTCAGCAGTGGCCCTGG	0.493																																																	0													159	167	164					13																	20978792		1932	4135	6067	SO:0001819	synonymous_variant	0			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.828T>A	13.37:g.20978792A>T			A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Silent	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.T276	ENST00000298248.7	37	c.828	CCDS41871.1	13																																																																																			CRYL1	-	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	ENSG00000165475		0.493	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1		0	61	0	A	NM_015974		20978792	-1			no_errors	ENST00000298248	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	T	T	20978792	A	T	20978792	2	4	3	1	0	0	0	0	0	0	0	1	3927	175	7	5		5	CRYL1	13	20978792	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	345170	20978792	94191086	169	816											
DCLK1	9201	genome.wustl.edu	37	chr13	36362405	36362405	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaccctgatctcttgatGgtaaacccgtggtccagctg	10	10	10	11	1	1	3	0	2	1	1	3	3	2	3	3	2	2	2	3	2	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:36362405G>A	ENST00000360631.3	-	16	2270				DCLK1_ENST00000255448.4_Silent_p.T692T|DCLK1_ENST00000379893.1_Intron			O15075	DCLK1_HUMAN	doublecortin-like kinase 1						axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCTCTTGATGGTAAACCCGT	0.468																																																	0													244	200	215					13																	36362405		2203	4300	6503	SO:0001627	intron_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2058+5097C>T	13.37:g.36362405G>A			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.T692	ENST00000360631.3	37	c.2076		13																																																																																			DCLK1	-	superfamily_Kinase-like_dom	ENSG00000133083		0.468	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0	55	0	G	NM_004734		36362405	-1	tier1	-	no_errors	ENST00000255448	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	A	A	36362405	G	A	36362405	1	1	3	0	1	0	0	0	0	0	0	0	4300	1335	47	3		3	DCLK1	13	36362405	Intron	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	15383613	36362405	78807473	170	817											
SOHLH2	54937	genome.wustl.edu	37	chr13	36748633	36748633	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtgccatgacagtgccTgggagagacagctcaatggg	9	7	15	10	1	1	2	1	1	0	1	1	4	1	3	2	2	3	2	2	2	1	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:36748633T>A	ENST00000379881.3	-	8	949	c.861A>T	c.(859-861)ccA>ccT	p.P287P	SOHLH2_ENST00000554962.1_Silent_p.P364P|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.P364P	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	287					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGACAGTGCCTGGGAGAGACA	0.393																																																	0													184	182	183					13																	36748633		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.861A>T	13.37:g.36748633T>A			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P364	ENST00000379881.3	37	c.1092	CCDS9355.1	13																																																																																			CCDC169-SOHLH2	-	superfamily_bHLH_dom	ENSG00000250709		0.393	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	-	0	71	0	T	NM_017826		36748633	-1	tier1	-	no_errors	ENST00000511166	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.534	A	A	36748633	T	A	36748633	2	1	3	1	0	0	0	0	0	0	0	1	14969	1567	55	5		5	SOHLH2	13	36748633	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	386228	36748633	78421245	171	818											
C13orf23	80209	genome.wustl.edu	37	chr13	39587469	39587469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgttgaagtatatgcacgGcccaatgtccctgacaaacc	12	9	9	11	1	0	2	0	2	0	0	1	3	1	2	3	1	2	3	3	1	5	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:39587469G>A	ENST00000352251.3	-	11	2753	c.1920C>T	c.(1918-1920)ggC>ggT	p.G640G	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Silent_p.G618G	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	640	Ser-rich.							p.G640G(1)									TATATGCACGGCCCAATGTCC	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)											144	140	141					13																	39587469		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1920C>T	13.37:g.39587469G>A			A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	NULL	p.G640	ENST00000352251.3	37	c.1920	CCDS9368.2	13																																																																																			PROSER1	-	NULL	ENSG00000120685		0.478	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0	38	0	G	NM_025138		39587469	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	silent	64.29	10	18	SNP	0.978	A	A	39587469	G	A	39587469	2	1	3	1	0	0	0	0	0	0	0	1	1726	1190	42	3		3	C13orf23	13	39587469	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2838836	39587469	75582409	172	819											
HTR2A	3356	genome.wustl.edu	37	chr13	47409525	47409525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttttctgaagacaaaGaactctgagggaggaagctg	14	8	13	6	0	2	5	0	2	2	3	2	7	2	7	0	2	3	2	0	2	4	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:47409525G>T	ENST00000378688.4	-	3	994	c.863C>A	c.(862-864)tCt>tAt	p.S288Y	HTR2A_ENST00000543956.1_Missense_Mutation_p.S204Y|HTR2A_ENST00000542664.1_Missense_Mutation_p.S288Y			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	288					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGAAGACAAAGAACTCTGAGG	0.478																																																	0													79	73	75					13																	47409525		2203	4300	6503	SO:0001583	missense	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.863C>A	13.37:g.47409525G>T	ENSP00000367959:p.Ser288Tyr		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.S288Y	ENST00000378688.4	37	c.863	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166440	0.78339	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.63913	0.29;-0.07;0.29	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.78801	2.425	0.80722	D	1	P;P	0.37548	0.544;0.599	B;P	0.45167	0.341;0.472	T	0.74380	-0.3684	10	0.62326	D	0.03	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	204;288	F5GWE8;P28223	.;5HT2A_HUMAN	Y	288;204;288	ENSP00000367959:S288Y;ENSP00000441861:S204Y;ENSP00000437737:S288Y	ENSP00000367959:S288Y	S	-	2	0	HTR2A	46307526	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.434000	0.97515	2.894000	0.99253	0.591000	0.81541	TCT	HTR2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000102468		0.478	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3		0	38	0	G	NM_000621		47409525	-1			no_errors	ENST00000378688	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	47409525	G	T	47409525	3	4	3	1	0	0	0	0	1	0	0	0	7468	942	33	3	556	3	HTR2A	13	47409525	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7822056	47409525	67760353	173	820											
CDADC1	81602	genome.wustl.edu	37	chr13	49833555	49833555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctagtgaagatttacAtgccgggcagattgctctta	9	14	10	8	1	2	3	0	1	2	2	2	3	2	3	1	1	3	3	1	1	4	6	rs561981629		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:49833555A>G	ENST00000251108.6	+	4	439	c.326A>G	c.(325-327)cAt>cGt	p.H109R	CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_Missense_Mutation_p.H109R	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	109							hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		GAAGATTTACATGCCGGGCAG	0.348													A|||	0	0	0	0	5008	,	,		17064	0		0	False		,,,				2504	0																0													125	123	124					13																	49833555		2203	4300	6503	SO:0001583	missense	0			AY027525	CCDS9415.1	13q14.11	2008-02-05			ENSG00000102543	ENSG00000102543			20299	protein-coding gene	gene with protein product							Standard	NM_001193478		Approved	NYD-SP15	uc001vcu.3	Q9BWV3	OTTHUMG00000016913	ENST00000251108.6:c.326A>G	13.37:g.49833555A>G	ENSP00000251108:p.His109Arg		Q49A08|Q4G119|Q5TAW9|Q7Z764|Q9NT36	Missense_Mutation	SNP	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	p.H109R	ENST00000251108.6	37	c.326	CCDS9415.1	13	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331233	0.81690	.	.	ENSG00000102543	ENST00000538056;ENST00000251108	T;T	0.70045	-0.45;-0.45	5.77	5.77	0.91146	Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89229	0.3576	10	0.87932	D	0	-17.112	15.5697	0.76323	1.0:0.0:0.0:0.0	.	109	Q9BWV3	CDAC1_HUMAN	R	109	ENSP00000442779:H109R;ENSP00000251108:H109R	ENSP00000251108:H109R	H	+	2	0	CDADC1	48731556	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.047000	0.89440	2.330000	0.79161	0.477000	0.44152	CAT	CDADC1	-	pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like	ENSG00000102543		0.348	CDADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDADC1	HGNC	protein_coding	OTTHUMT00000044902.2	-	0	61	0	A	NM_030911		49833555	1	tier1	-	no_errors	ENST00000251108	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G	G	49833555	A	G	49833555	3	3	3	1	0	0	0	0	1	0	0	0	3060	217	8	4	340	4	CDADC1	13	49833555	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	2424030	49833555	65336323	174	821											
ATP11A	23250	genome.wustl.edu	37	chr13	113496688	113496688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccagagtggagcgtaacGcagtggtgagagccgggctg	9	5	19	8	3	0	2	0	1	0	2	0	5	0	3	2	3	4	3	2	3	1	1	rs139662421		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:113496688G>T	ENST00000487903.1	+	17	1892	c.1804G>T	c.(1804-1806)Gca>Tca	p.A602S	ATP11A_ENST00000283558.8_Missense_Mutation_p.A602S|ATP11A_ENST00000375645.3_Missense_Mutation_p.A602S|ATP11A_ENST00000375630.2_Missense_Mutation_p.A602S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	602					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGAGCGTAACGCAGTGGTGAG	0.547																																																	0													53	45	48					13																	113496688		2201	4297	6498	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1804G>T	13.37:g.113496688G>T	ENSP00000420387:p.Ala602Ser		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A602S	ENST00000487903.1	37	c.1804	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175368	0.57692	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	4.9	4.9	0.64082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.108509	0.64402	D	0.000006	D	0.88880	0.6557	L	0.46947	1.48	0.80722	D	1	P;B;P	0.50819	0.939;0.4;0.731	P;P;P	0.58266	0.836;0.734;0.669	D	0.89898	0.4042	10	0.66056	D	0.02	.	18.4568	0.90724	0.0:0.0:1.0:0.0	.	602;602;602	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	S	602;602;602;602;43	ENSP00000420387:A602S;ENSP00000364781:A602S;ENSP00000364796:A602S;ENSP00000283558:A602S	ENSP00000283558:A602S	A	+	1	0	ATP11A	112544689	1.000000	0.71417	0.400000	0.26346	0.030000	0.12068	8.963000	0.93385	2.421000	0.82119	0.563000	0.77884	GCA	ATP11A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000068650		0.547	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3		0	50	0	G	NM_015205		113496688	1			no_errors	ENST00000375630	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	113496688	G	T	113496688	3	4	3	1	0	0	0	0	1	0	0	0	1120	1087	38	2	1870	2	ATP11A	13	113496688	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	63663133	113496688	1673190	175	822											
F10	2159	genome.wustl.edu	37	chr13	113803524	113803524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtgccctacgtggaccGcaacagctgcaagctgtcca	9	6	13	13	2	0	0	0	0	0	0	1	2	1	2	3	3	6	4	3	3	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr13:113803524G>A	ENST00000375559.3	+	8	1198	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	387	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.R387H(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TACGTGGACCGCAACAGCTGC	0.627																																																	1	Substitution - Missense(1)	pancreas(1)	GRCh37	CM054665	F10	M							47	50	49					13																	113803524		2203	4300	6503	SO:0001583	missense	0				CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1160G>A	13.37:g.113803524G>A	ENSP00000364709:p.Arg387His		Q14340	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.R387H	ENST00000375559.3	37	c.1160	CCDS9530.1	13	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923031	0.52653	.	.	ENSG00000126218	ENST00000375559	D	0.89415	-2.51	5.37	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.132116	0.46442	D	0.000289	D	0.87196	0.6117	N	0.05619	-0.005	0.45366	D	0.998358	D	0.89917	1.0	D	0.91635	0.999	D	0.88134	0.2840	10	0.54805	T	0.06	.	11.2084	0.48784	0.0707:0.1283:0.801:0.0	.	387	P00742	FA10_HUMAN	H	387	ENSP00000364709:R387H	ENSP00000364709:R387H	R	+	2	0	F10	112851525	0.998000	0.40836	0.834000	0.33040	0.121000	0.20230	5.573000	0.67417	1.220000	0.43490	0.650000	0.86243	CGC	F10	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000126218		0.627	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F10	HGNC	protein_coding	OTTHUMT00000045841.3	-	0	37	0	G			113803524	1	tier1	-	no_errors	ENST00000375559	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.825	A	A	113803524	G	A	113803524	3	1	3	1	0	0	0	0	1	0	0	0	5352	1087	38	1	1190	1	F10	13	113803524	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	306836	113803524	1366354	176	823											
OR4N2	390429	genome.wustl.edu	37	chr14	20296200	20296200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgtggtggagcttcTgatggtcttcaacagtggcc	7	13	12	9	0	3	1	1	1	2	0	3	2	3	2	1	4	2	1	1	4	1	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:20296200T>C	ENST00000315947.1	+	1	593	c.593T>C	c.(592-594)cTg>cCg	p.L198P	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGAGCTTCTGATGGTCTTC	0.527																																																	0													146	145	145					14																	20296200		2203	4300	6503	SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.593T>C	14.37:g.20296200T>C	ENSP00000319601:p.Leu198Pro		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L198P	ENST00000315947.1	37	c.593	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	14.11	2.438010	0.43326	.	.	ENSG00000176294	ENST00000315947	T	0.39787	1.06	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001405	T	0.71143	0.3305	M	0.93638	3.44	0.09310	N	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.67719	-0.5598	10	0.87932	D	0	-8.2003	12.081	0.53671	0.0:0.0:0.0:1.0	.	198	Q8NGD1	OR4N2_HUMAN	P	198	ENSP00000319601:L198P	ENSP00000319601:L198P	L	+	2	0	OR4N2	19366040	0.006000	0.16342	0.622000	0.29159	0.868000	0.49771	1.680000	0.37607	2.008000	0.58898	0.477000	0.44152	CTG	OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176294		0.527	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0	123	0	T			20296200	1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	6.90	81	6	SNP	0.003	C	C	20296200	T	C	20296200	3	2	3	1	0	0	0	0	1	0	0	0	11116	1580	55	4	595	4	OR4N2	14	20296200	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09		20296200	87053340	177	824											
OR4K1	79544	genome.wustl.edu	37	chr14	20404047	20404047	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattgatatctgtcagtcTaactttgccacccccaagat	10	14	5	12	0	4	2	2	1	2	1	4	2	4	2	3	0	2	0	3	0	3	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:20404047T>C	ENST00000285600.4	+	1	281	c.222T>C	c.(220-222)tcT>tcC	p.S74S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTGTCAGTCTAACTTTGCCA	0.383																																																	0													222	234	230					14																	20404047		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.222T>C	14.37:g.20404047T>C			B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74	ENST00000285600.4	37	c.222	CCDS32025.1	14																																																																																			OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000155249		0.383	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0	89	0	T			20404047	1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	silent	48.28	30	28	SNP	0.053	C	C	20404047	T	C	20404047	2	2	3	1	0	0	0	0	0	0	0	1	11106	1509	53	4		4	OR4K1	14	20404047	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	107847	20404047	86945493	178	825											
RNASE13	440163	genome.wustl.edu	37	chr14	21502315	21502315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagccccggaaaccctttgGgtagttaaccctgggatagt	10	10	11	10	1	0	0	0	0	0	0	0	2	0	2	4	3	3	2	4	3	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:21502315G>T	ENST00000382951.3	-	2	270	c.133C>A	c.(133-135)Cca>Aca	p.P45T	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	45						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		AAACCCTTTGGGTAGTTAACC	0.468																																																	0													102	93	96					14																	21502315		2203	4300	6503	SO:0001583	missense	0			AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"Ribonucleases, RNase A"	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.133C>A	14.37:g.21502315G>T	ENSP00000372410:p.Pro45Thr			Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.P45T	ENST00000382951.3	37	c.133	CCDS32039.1	14	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330943	0.24167	.	.	ENSG00000206150	ENST00000382951	T	0.73152	-0.72	5.12	-8.69	0.00855	Ribonuclease A, domain (2);	1.455990	0.04021	N	0.299823	T	0.53965	0.1829	L	0.27053	0.805	0.09310	N	1	B	0.34181	0.44	B	0.38378	0.272	T	0.55995	-0.8052	10	0.62326	D	0.03	2.8347	5.1111	0.14809	0.286:0.4882:0.1316:0.0942	.	45	Q5GAN3	RNS13_HUMAN	T	45	ENSP00000372410:P45T	ENSP00000372410:P45T	P	-	1	0	RNASE13	20572155	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.821000	0.01713	-1.399000	0.02063	-0.142000	0.14014	CCA	RNASE13	-	superfamily_RNaseA_domain	ENSG00000206150		0.468	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE13	HGNC	protein_coding	OTTHUMT00000411744.1	-	0	67	0	G			21502315	-1	tier1	-	no_errors	ENST00000382951	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T	T	21502315	G	T	21502315	3	4	3	1	0	0	0	0	1	0	0	0	13448	1232	43	3	341	3	RNASE13	14	21502315	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	1098268	21502315	85847225	179	826											
LRRC16B	90668	genome.wustl.edu	37	chr14	24524824	24524824	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctactgcaaggacttgcgGctggtaggaactgggagggg	8	8	17	8	1	1	0	0	0	1	0	1	3	1	3	0	7	4	3	0	7	4	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:24524824G>T	ENST00000342740.5	+	9	832	c.678G>T	c.(676-678)cgG>cgT	p.R226R	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	226						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AGGACTTGCGGCTGGTAGGAA	0.587																																																	0													103	105	104					14																	24524824		2203	4300	6503	SO:0001819	synonymous_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.678G>T	14.37:g.24524824G>T			Q8TEF7|Q96HS9	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R226	ENST00000342740.5	37	c.678	CCDS32054.1	14																																																																																			LRRC16B	-	NULL	ENSG00000186648		0.587	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	-	0	107	0	G	NM_138360		24524824	1	tier1	-	no_errors	ENST00000342740	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.628	T	T	24524824	G	T	24524824	2	4	3	1	0	0	0	0	0	0	0	1	9007	1190	42	3		3	LRRC16B	14	24524824	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	3022509	24524824	82824716	180	827											
GMPR2	51292	genome.wustl.edu	37	chr14	24702536	24702536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacgcagtacccttaagtCtcgaagtgaggtgagcaagc	13	7	11	10	2	1	2	0	2	1	0	2	3	1	2	1	1	4	3	1	1	5	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:24702536C>T	ENST00000355299.4	+	2	538	c.77C>T	c.(76-78)tCt>tTt	p.S26F	GMPR2_ENST00000456667.3_Missense_Mutation_p.S26F|GMPR2_ENST00000399440.2_Missense_Mutation_p.S26F|NEDD8-MDP1_ENST00000604306.1_5'Flank|GMPR2_ENST00000559104.1_Missense_Mutation_p.S44F|GMPR2_ENST00000420554.2_Missense_Mutation_p.S44F|GMPR2_ENST00000559910.1_Missense_Mutation_p.S26F|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000557854.1_Missense_Mutation_p.S44F|NEDD8_ENST00000524927.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_5'Flank|GMPR2_ENST00000559836.1_Missense_Mutation_p.S26F|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000348719.7_Missense_Mutation_p.S26F	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	26					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACCCTTAAGTCTCGAAGTGAG	0.512																																																	0													189	181	184					14																	24702536		1971	4151	6122	SO:0001583	missense	0				CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.77C>T	14.37:g.24702536C>T	ENSP00000347449:p.Ser26Phe		D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1	p.S26F	ENST00000355299.4	37	c.77	CCDS41935.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.367217	0.95900	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.65	5.65	0.86999	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.051516	0.85682	D	0.000000	D	0.94328	0.8177	H	0.99104	4.43	0.80722	D	1	D;D;D;D;D	0.64830	0.977;0.994;0.978;0.983;0.983	P;D;P;P;P	0.66084	0.893;0.941;0.746;0.835;0.75	D	0.96309	0.9227	10	0.87932	D	0	-2.7975	18.8485	0.92217	0.0:1.0:0.0:0.0	.	26;26;44;26;26	Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;GMPR2_HUMAN	F	26;26;44;26;26;26	ENSP00000347449:S26F;ENSP00000392859:S44F;ENSP00000382369:S26F;ENSP00000334409:S26F;ENSP00000405743:S26F	ENSP00000334409:S26F	S	+	2	0	GMPR2	23772376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.826000	0.48104	2.817000	0.96982	0.563000	0.77884	TCT	GMPR2	-	pfam_IMP_DH_GMPRt,tigrfam_GMP_reduct1	ENSG00000100938		0.512	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GMPR2	HGNC	protein_coding	OTTHUMT00000415821.2	-	0	28	0	C	NM_016576		24702536	1	tier1	-	no_errors	ENST00000348719	ensembl	human	known	74_37	missense	27.78	25	10	SNP	1.000	T	T	24702536	C	T	24702536	3	4	3	1	0	0	0	0	1	0	0	0	6523	913	32	3	133	3	GMPR2	14	24702536	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	177712	24702536	82647004	181	828											
FANCM	57697	genome.wustl.edu	37	chr14	45642264	45642264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaaataattaaggctcaaGaatcaaccactggaattcat	17	12	5	7	0	3	1	3	0	0	1	3	2	3	2	1	2	1	1	1	2	8	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:45642264G>A	ENST00000267430.5	+	13	2252	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	FANCM_ENST00000542564.2_Missense_Mutation_p.E697K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	723					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAAGGCTCAAGAATCAACCAC	0.333								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													83	80	81					14																	45642264		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2167G>A	14.37:g.45642264G>A	ENSP00000267430:p.Glu723Lys		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E723K	ENST00000267430.5	37	c.2167	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	G	8.092	0.774832	0.16051	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18502	2.79;2.79;2.21	5.27	4.38	0.52667	.	5.780290	0.00166	N	0.000000	T	0.22475	0.0542	L	0.50919	1.6	0.21325	N	0.999723	B;B	0.24533	0.105;0.085	B;B	0.16289	0.015;0.01	T	0.40365	-0.9567	10	0.27785	T	0.31	.	13.5263	0.61597	0.0755:0.0:0.9245:0.0	.	697;723	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	K	723;697;239	ENSP00000267430:E723K;ENSP00000442493:E697K;ENSP00000452033:E239K	ENSP00000267430:E723K	E	+	1	0	FANCM	44712014	1.000000	0.71417	0.730000	0.30809	0.030000	0.12068	4.127000	0.57944	1.459000	0.47892	0.561000	0.74099	GAA	FANCM	-	NULL	ENSG00000187790		0.333	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	34	0	G	XM_048128		45642264	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.506	A	A	45642264	G	A	45642264	3	1	3	1	0	0	0	0	1	0	0	0	5693	943	33	3	2217	3	FANCM	14	45642264	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	20939728	45642264	61707276	182	829											
SFRS5	6430	genome.wustl.edu	37	chr14	70238180	70238180	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgacagtggcaattaaaCtgtaaataacttgccctggg	13	11	10	7	0	0	1	0	1	0	0	0	1	0	1	1	2	3	3	1	2	6	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:70238180C>T	ENST00000553521.1	+	0	2274				SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_3'UTR|SRSF5_ENST00000394366.2_3'UTR|SRSF5_ENST00000557154.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						GGCAATTAAACTGTAAATAAC	0.418																																																	0													80	88	85					14																	70238180		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10787	protein-coding gene	gene with protein product	"SR splicing factor 5"	600914	"splicing factor, arginine/serine-rich 5"	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.*2C>T	14.37:g.70238180C>T			O14797|Q16662|Q49AD6|Q6FGE0	RNA	SNP	-	NULL	ENST00000553521.1	37	NULL	CCDS32109.1	14																																																																																			SRSF5	-	-	ENSG00000100650		0.418	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	-	0	41	0	C	NM_001039465		70238180	1	tier1	-	no_errors	ENST00000556587	ensembl	human	known	74_37	rna	18.52	22	5	SNP	1.000	T	T	70238180	C	T	70238180	1	4	3	0	1	0	0	0	0	0	0	0	14225	580	20	3		3	SFRS5	14	70238180	3'UTR	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	24595916	70238180	37111360	183	830											
PSEN1	5663	genome.wustl.edu	37	chr14	73664779	73664779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaaggtccacttcgtatGctggttgaaacagctcagga	11	9	11	10	2	1	1	1	1	0	0	3	3	2	2	2	3	3	4	2	3	3	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:73664779G>T	ENST00000324501.5	+	8	1082	c.810G>T	c.(808-810)atG>atT	p.M270I	PSEN1_ENST00000394164.1_Missense_Mutation_p.M266I|PSEN1_ENST00000406768.1_Missense_Mutation_p.M178I|PSEN1_ENST00000557511.1_Missense_Mutation_p.M270I|PSEN1_ENST00000357710.4_Missense_Mutation_p.M266I|PSEN1_ENST00000261970.3_Missense_Mutation_p.M270I|PSEN1_ENST00000344094.3_Missense_Mutation_p.M270I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	270					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CACTTCGTATGCTGGTTGAAA	0.353																																																	0													68	65	66					14																	73664779		2203	4299	6502	SO:0001583	missense	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.810G>T	14.37:g.73664779G>T	ENSP00000326366:p.Met270Ile		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.M270I	ENST00000324501.5	37	c.810	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429549	0.25726	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99499	-6.02;-6.02;-6.02;-6.02;-6.02;-6.02;-6.02	5.82	5.82	0.92795	.	0.081162	0.85682	D	0.000000	D	0.97592	0.9211	N	0.25647	0.755	0.54753	D	0.999986	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	D	0.96972	0.9709	10	0.07175	T	0.84	-16.1787	20.099	0.97865	0.0:0.0:1.0:0.0	.	266;270	P49768-2;P49768	.;PSN1_HUMAN	I	270;266;270;270;266;270;178	ENSP00000326366:M270I;ENSP00000350342:M266I;ENSP00000261970:M270I;ENSP00000339523:M270I;ENSP00000377719:M266I;ENSP00000451429:M270I;ENSP00000385948:M178I	ENSP00000261970:M270I	M	+	3	0	PSEN1	72734532	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.192000	0.58378	2.752000	0.94435	0.655000	0.94253	ATG	PSEN1	-	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Peptidase_A22A	ENSG00000080815		0.353	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2		0	62	0	G			73664779	1			no_errors	ENST00000324501	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	73664779	G	T	73664779	3	4	3	1	0	0	0	0	1	0	0	0	12692	1319	46	3	832	3	PSEN1	14	73664779	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	3426599	73664779	33684761	184	831											
HEATR4	399671	genome.wustl.edu	37	chr14	73974888	73974888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataagactgttcctcagtgtCctcattcttctttgtaaaca	10	16	5	10	0	4	1	2	0	2	1	6	1	6	1	2	0	1	2	2	0	3	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:73974888C>T	ENST00000553558.1	-	9	2152	c.1831G>A	c.(1831-1833)Gac>Aac	p.D611N	HEATR4_ENST00000334988.2_Missense_Mutation_p.D611N|HEATR4_ENST00000560393.1_Missense_Mutation_p.D564N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	611										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCCTCAGTGTCCTCATTCTTC	0.483																																																	0													159	148	152					14																	73974888		2203	4300	6503	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1831G>A	14.37:g.73974888C>T	ENSP00000450444:p.Asp611Asn		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D611N	ENST00000553558.1	37	c.1831	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463178	0.26248	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.12672	2.66	5.63	3.81	0.43845	Armadillo-like helical (1);Armadillo-type fold (1);	0.326181	0.26485	N	0.024112	T	0.10423	0.0255	L	0.36672	1.1	0.23126	N	0.998257	B	0.16166	0.016	B	0.12156	0.007	T	0.33548	-0.9864	10	0.13470	T	0.59	-9.5828	11.0476	0.47867	0.0:0.8473:0.0:0.1527	.	611	Q86WZ0	HEAT4_HUMAN	N	611;564	ENSP00000450444:D611N	ENSP00000335447:D564N	D	-	1	0	HEATR4	73044641	0.862000	0.29867	0.908000	0.35775	0.199000	0.23934	2.391000	0.44424	0.737000	0.32582	0.563000	0.77884	GAC	HEATR4	-	superfamily_ARM-type_fold	ENSG00000187105		0.483	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	-	0	51	0	C	NM_203309		73974888	-1	tier1	-	no_errors	ENST00000334988	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.971	T	T	73974888	C	T	73974888	3	4	3	1	0	0	0	0	1	0	0	0	7057	855	30	3	1289	3	HEATR4	14	73974888	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	310109	73974888	33374652	185	832											
ENTPD5	957	genome.wustl.edu	37	chr14	74439665	74439665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctggacctcctctggctGgtgaagttttcctcgtacca	5	14	9	13	1	2	1	0	1	2	0	6	2	4	2	4	3	1	3	4	3	2	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:74439665G>T	ENST00000334696.6	-	13	1268	c.949C>A	c.(949-951)Cag>Aag	p.Q317K	ENTPD5_ENST00000557325.1_Missense_Mutation_p.Q317K	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	317					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TCCTCTGGCTGGTGAAGTTTT	0.537																																																	0													204	202	203					14																	74439665		2203	4300	6503	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.949C>A	14.37:g.74439665G>T	ENSP00000335246:p.Gln317Lys		A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.Q317K	ENST00000334696.6	37	c.949	CCDS9825.1	14	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578068	0.65878	.	.	ENSG00000187097	ENST00000557325;ENST00000334696	T;T	0.11169	2.8;2.8	4.95	4.95	0.65309	.	0.189355	0.47455	D	0.000240	T	0.21590	0.0520	L	0.33293	1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	T	0.03840	-1.0999	10	0.10377	T	0.69	-4.1041	18.7465	0.91795	0.0:0.0:1.0:0.0	.	317;317	O75356;G3V4I0	ENTP5_HUMAN;.	K	317	ENSP00000451810:Q317K;ENSP00000335246:Q317K	ENSP00000335246:Q317K	Q	-	1	0	ENTPD5	73509418	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.119000	0.77145	2.744000	0.94065	0.563000	0.77884	CAG	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.537	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1	-	0	35	0	G	NM_001249		74439665	-1	tier1	-	no_errors	ENST00000334696	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	74439665	G	T	74439665	3	4	3	1	0	0	0	0	1	0	0	0	5158	1357	47	3	353	3	ENTPD5	14	74439665	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	464777	74439665	32909875	186	833											
C14orf148	122945	genome.wustl.edu	37	chr14	77873849	77873849	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaagctgtacacaatgctGgccttctcaaggctggtgta	11	10	10	10	0	1	0	1	0	1	0	2	0	1	0	1	3	3	5	1	3	5	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:77873849G>T	ENST00000380835.2	-	3	655	c.489C>A	c.(487-489)gcC>gcA	p.A163A	NOXRED1_ENST00000298358.3_Silent_p.A163A	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	163					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACACAATGCTGGCCTTCTCAA	0.498																																																	0													141	130	134					14																	77873849		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.489C>A	14.37:g.77873849G>T			B3KQ47|O95435	Silent	SNP	NULL	p.A163	ENST00000380835.2	37	c.489	CCDS45142.1	14																																																																																			NOXRED1	-	NULL	ENSG00000165555		0.498	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	-	0	77	0	G	NM_138791		77873849	-1	tier1	-	no_errors	ENST00000380835	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.464	T	T	77873849	G	T	77873849	2	4	3	1	0	0	0	0	0	0	0	1	1756	1335	47	3		3	C14orf148	14	77873849	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	3434184	77873849	29475691	187	834											
KIAA1409	57578	genome.wustl.edu	37	chr14	94008860	94008860	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctacagaaagcttggccCggctggtggccatggtgttt	6	10	14	11	2	0	1	0	0	0	1	0	1	0	1	3	5	2	3	3	5	2	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:94008860C>A	ENST00000393151.2	+	14	1573	c.1573C>A	c.(1573-1575)Cgg>Agg	p.R525R	UNC79_ENST00000555664.1_Silent_p.R525R|UNC79_ENST00000553484.1_Silent_p.R525R|UNC79_ENST00000256339.4_Silent_p.R348R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	525					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCTTGGCCCGGCTGGTGGC	0.493																																																	0													108	85	93					14																	94008860		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1573C>A	14.37:g.94008860C>A			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.R525	ENST00000393151.2	37	c.1573		14																																																																																			UNC79	-	NULL	ENSG00000133958		0.493	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0	46	0	C	XM_028395		94008860	1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	59.38	13	19	SNP	1.000	A	A	94008860	C	A	94008860	2	1	3	1	0	0	0	0	0	0	0	1	8257	643	23	2		2	KIAA1409	14	94008860	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	16135011	94008860	13340680	188	835											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102461351	102461351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtgaacttgaaatatgActcttggcataaggaggttc	13	12	11	5	0	1	3	0	3	1	0	2	4	1	4	0	4	1	2	0	4	5	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr14:102461351A>G	ENST00000360184.4	+	14	3526	c.3362A>G	c.(3361-3363)gAc>gGc	p.D1121G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1121	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGAAATATGACTCTTGGCAT	0.418																																																	0													109	98	102					14																	102461351		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3362A>G	14.37:g.102461351A>G	ENSP00000348965:p.Asp1121Gly		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.D1121G	ENST00000360184.4	37	c.3362	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	29.3	4.992987	0.93167	.	.	ENSG00000197102	ENST00000360184	T	0.81247	-1.47	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.93256	0.6639	10	0.66056	D	0.02	.	16.2109	0.82158	1.0:0.0:0.0:0.0	.	1121	Q14204	DYHC1_HUMAN	G	1121	ENSP00000348965:D1121G	ENSP00000348965:D1121G	D	+	2	0	DYNC1H1	101531104	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	9.332000	0.96446	2.230000	0.72887	0.455000	0.32223	GAC	DYNC1H1	-	NULL	ENSG00000197102		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	43	0	A	NM_001376		102461351	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	7.55	47	4	SNP	1.000	G	G	102461351	A	G	102461351	3	3	3	1	0	0	0	0	1	0	0	0	4855	275	10	4	3416	4	DYNC1H1	14	102461351	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	8452491	102461351	4888189	189	836											
MGA	23269	genome.wustl.edu	37	chr15	41961511	41961511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgttataagtggaatggtcGttggtgggaacctagtggga	9	12	16	4	2	0	0	0	0	0	0	2	3	0	3	1	5	1	2	1	5	5	4	rs528733174	byFrequency	TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:41961511G>A	ENST00000570161.1	+	1	419	c.419G>A	c.(418-420)cGt>cAt	p.R140H	MGA_ENST00000566586.1_Missense_Mutation_p.R140H|MGA_ENST00000389936.4_Missense_Mutation_p.R140H|MGA_ENST00000219905.7_Missense_Mutation_p.R140H|MGA_ENST00000568630.1_Intron|MGA_ENST00000545763.1_Missense_Mutation_p.R140H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.R140H(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGAATGGTCGTTGGTGGGAA	0.408													G|||	2	0.000399361	8e-04	0	5008	,	,		22021	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)											285	283	283					15																	41961511		1885	4097	5982	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.419G>A	15.37:g.41961511G>A	ENSP00000457035:p.Arg140His		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.R140H	ENST00000570161.1	37	c.419	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405443	0.62288	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89617	-2.54;-2.54;-2.54	5.52	5.52	0.82312	.	0.331625	0.28555	N	0.014933	D	0.89090	0.6616	N	0.21282	0.65	0.36725	D	0.881382	D;D	0.89917	0.999;1.0	D;D	0.71414	0.929;0.973	D	0.90710	0.4627	10	0.87932	D	0	.	10.2891	0.43586	0.1466:0.0:0.8534:0.0	.	140;140	F5H7K2;E7ENI0	.;.	H	140	ENSP00000219905:R140H;ENSP00000374586:R140H;ENSP00000442467:R140H	ENSP00000219905:R140H	R	+	2	0	MGA	39748803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.293000	0.51779	2.767000	0.95098	0.655000	0.94253	CGT	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000174197		0.408	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	77	0	G	NM_001164273.1		41961511	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.998	A	A	41961511	G	A	41961511	3	1	3	1	0	0	0	0	1	0	0	0	9578	1145	40	1	421	1	MGA	15	41961511	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		41961511	60569881	190	837											
FBN1	2200	genome.wustl.edu	37	chr15	48734034	48734034	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggctcttcgacacacTcatcaatatctaaaagaatc	13	13	4	11	1	5	1	2	0	3	1	7	2	5	1	0	1	0	1	0	1	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:48734034T>C	ENST00000316623.5	-	50	6502	c.6047A>G	c.(6046-6048)gAg>gGg	p.E2016G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2016	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCGACACACTCATCAATATC	0.443																																																	0													113	112	112					15																	48734034		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6047A>G	15.37:g.48734034T>C	ENSP00000325527:p.Glu2016Gly		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.E2016G	ENST00000316623.5	37	c.6047	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	T	31	5.081387	0.94050	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.98849	-5.18	5.94	5.94	0.96194	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	H	0.96777	3.88	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	D	0.98252	1.0494	10	0.87932	D	0	.	16.0478	0.80731	0.0:0.0:0.0:1.0	.	2016	P35555	FBN1_HUMAN	G	2016;584;906	ENSP00000325527:E2016G	ENSP00000325527:E2016G	E	-	2	0	FBN1	46521326	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.842000	0.86851	2.264000	0.75181	0.528000	0.53228	GAG	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.443	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	27	0	T			48734034	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	C	C	48734034	T	C	48734034	3	2	3	1	0	0	0	0	1	0	0	0	5724	1551	54	4	2636	4	FBN1	15	48734034	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	6772523	48734034	53797358	191	838											
FBN1	2200	genome.wustl.edu	37	chr15	48777601	48777601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctggtcaggcattagtgCaaatcccggctgacagctac	9	10	10	12	1	2	1	1	1	1	0	4	1	3	1	1	3	3	4	1	3	3	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:48777601C>T	ENST00000316623.5	-	30	4137	c.3682G>A	c.(3682-3684)Gca>Aca	p.A1228T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1228	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCATTAGTGCAAATCCCGGC	0.453																																																	0													121	108	112					15																	48777601		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3682G>A	15.37:g.48777601C>T	ENSP00000325527:p.Ala1228Thr		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.A1228T	ENST00000316623.5	37	c.3682	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.595445	0.96602	.	.	ENSG00000166147	ENST00000316623	D	0.86627	-2.15	6.05	6.05	0.98169	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	N	0.05467	-0.045	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.85206	0.1018	10	0.21540	T	0.41	.	20.2037	0.98272	0.0:1.0:0.0:0.0	.	1228	P35555	FBN1_HUMAN	T	1228	ENSP00000325527:A1228T	ENSP00000325527:A1228T	A	-	1	0	FBN1	46564893	1.000000	0.71417	0.954000	0.39281	0.988000	0.76386	7.814000	0.86154	2.866000	0.98385	0.650000	0.86243	GCA	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000166147		0.453	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	45	0	C			48777601	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	48777601	C	T	48777601	3	4	3	1	0	0	0	0	1	0	0	0	5724	710	25	3	5081	3	FBN1	15	48777601	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	43567	48777601	53753791	192	839											
ATP8B4	79895	genome.wustl.edu	37	chr15	50152608	50152608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttcttgagcttgacctgCgggtccgaggccttcggcta	5	11	12	13	3	1	2	0	2	1	0	3	3	2	2	4	3	2	2	4	3	1	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:50152608C>A	ENST00000284509.6	-	28	3503	c.3362G>T	c.(3361-3363)cGc>cTc	p.R1121L	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R1121L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1121						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTTGACCTGCGGGTCCGAGG	0.512																																																	0													89	83	85					15																	50152608		2196	4295	6491	SO:0001583	missense	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3362G>T	15.37:g.50152608C>A	ENSP00000284509:p.Arg1121Leu		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R1121L	ENST00000284509.6	37	c.3362	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157911	0.57368	.	.	ENSG00000104043	ENST00000284509	T	0.40225	1.04	5.48	5.48	0.80851	.	0.123056	0.56097	D	0.000039	T	0.43831	0.1265	M	0.67397	2.05	0.41605	D	0.988874	P;B	0.45902	0.868;0.052	P;B	0.46718	0.525;0.023	T	0.30621	-0.9972	10	0.11794	T	0.64	.	10.3045	0.43672	0.0:0.9103:0.0:0.0896	.	199;1121	Q6PG43;Q8TF62	.;AT8B4_HUMAN	L	1121	ENSP00000284509:R1121L	ENSP00000284509:R1121L	R	-	2	0	ATP8B4	47939900	0.998000	0.40836	0.999000	0.59377	0.973000	0.67179	2.424000	0.44714	2.574000	0.86865	0.455000	0.32223	CGC	ATP8B4	-	NULL	ENSG00000104043		0.512	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	-	0	47	0	C	NM_024837		50152608	-1	tier1	-	no_errors	ENST00000284509	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	A	A	50152608	C	A	50152608	3	1	3	1	0	0	0	0	1	0	0	0	1198	768	27	2	220	2	ATP8B4	15	50152608	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	1375007	50152608	52378784	193	840											
AP4E1	23431	genome.wustl.edu	37	chr15	51240354	51240354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatagcagagctggctgaGaaatatccttttatttcgac	14	12	8	7	1	0	2	0	1	0	2	2	4	1	2	1	1	2	3	1	1	6	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:51240354G>A	ENST00000261842.5	+	11	1420	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	AP4E1_ENST00000560508.1_Silent_p.E363E	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	438					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGCTGGCTGAGAAATATCCTT	0.353																																																	0													90	87	88					15																	51240354		2196	4294	6490	SO:0001819	synonymous_variant	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1314G>A	15.37:g.51240354G>A			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.E438	ENST00000261842.5	37	c.1314	CCDS32240.1	15																																																																																			AP4E1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.353	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1		0	53	0	G			51240354	1			no_errors	ENST00000261842	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	A	A	51240354	G	A	51240354	2	1	3	1	0	0	0	0	0	0	0	1	752	933	33	3		3	AP4E1	15	51240354	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	1087746	51240354	51291038	194	841											
UNC13C	440279	genome.wustl.edu	37	chr15	54586259	54586259	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatggatgtctggtacaacTtaggtgatttttttttttat	10	20	8	3	0	1	1	0	1	1	0	1	2	1	2	0	3	2	1	0	3	5	8			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:54586259T>G	ENST00000260323.11	+	10	3985	c.3985T>G	c.(3985-3987)Tta>Gta	p.L1329V	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1329V|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1327V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1329					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGGTACAACTTAGGTGATTT	0.348																																																	0													185	187	187					15																	54586259		1841	4077	5918	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3985T>G	15.37:g.54586259T>G	ENSP00000260323:p.Leu1329Val		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L1329V	ENST00000260323.11	37	c.3985	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571407	0.65765	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81078	-1.45;-1.45;-1.45	5.91	-4.09	0.03951	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	D	0.88093	0.6344	M	0.84511	2.7	0.40223	D	0.97776	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.988	D	0.88085	0.2809	10	0.87932	D	0	.	14.0127	0.64507	0.0:0.463:0.0:0.537	.	1329;1329	F5H090;Q8NB66	.;UN13C_HUMAN	V	1329;1329;1327	ENSP00000260323:L1329V;ENSP00000438156:L1329V;ENSP00000442569:L1327V	ENSP00000260323:L1329V	L	+	1	2	UNC13C	52373551	0.980000	0.34600	0.934000	0.37439	0.856000	0.48823	0.714000	0.25808	-0.631000	0.05560	-0.263000	0.10527	TTA	UNC13C	-	superfamily_C2_dom	ENSG00000137766		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3		0	41	0	T	NM_173166		54586259	1			no_errors	ENST00000260323	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.973	G	G	54586259	T	G	54586259	3	3	3	1	0	0	0	0	1	0	0	0	17035	1606	56	4	4019	4	UNC13C	15	54586259	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	3345905	54586259	47945133	195	842											
CYP1A2	1544	genome.wustl.edu	37	chr15	75042256	75042256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgctgaccctggggaaGaacccgcacctggcactgtc	8	7	12	14	1	0	2	0	1	0	1	1	3	0	3	3	3	2	3	3	3	2	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:75042256G>T	ENST00000343932.4	+	2	240	c.177G>T	c.(175-177)aaG>aaT	p.K59N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	59					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"	CCCTGGGGAAGAACCCGCACC	0.652																																																	0													69	68	69					15																	75042256		2197	4296	6493	SO:0001583	missense	0			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"Cytochrome P450s"	2596	protein-coding gene	gene with protein product		124060	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.177G>T	15.37:g.75042256G>T	ENSP00000342007:p.Lys59Asn		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.K59N	ENST00000343932.4	37	c.177	CCDS32293.1	15	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104452	0.56291	.	.	ENSG00000140505	ENST00000343932	T	0.68765	-0.35	4.96	4.96	0.65561	.	0.148010	0.64402	D	0.000009	T	0.78123	0.4234	M	0.73319	2.225	0.37162	D	0.902645	D	0.57899	0.981	D	0.68621	0.959	T	0.78954	-0.2000	10	0.31617	T	0.26	.	12.7764	0.57451	0.0788:0.0:0.9212:0.0	.	59	P05177-2	.	N	59	ENSP00000342007:K59N	ENSP00000342007:K59N	K	+	3	2	CYP1A2	72829309	0.996000	0.38824	1.000000	0.80357	0.963000	0.63663	1.201000	0.32259	2.573000	0.86826	0.655000	0.94253	AAG	CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000140505		0.652	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	-	0	54	0	G	NM_000761		75042256	1	tier1	-	no_errors	ENST00000343932	ensembl	human	known	74_37	missense	8.20	55	5	SNP	1.000	T	T	75042256	G	T	75042256	3	4	3	1	0	0	0	0	1	0	0	0	4159	933	33	3	179	3	CYP1A2	15	75042256	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	20455997	75042256	27489136	196	843											
KIAA1024	23251	genome.wustl.edu	37	chr15	79749775	79749775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattctccccattgcttatgCggcaaaacaaaatgggctca	13	10	7	11	1	2	0	1	0	1	0	3	0	2	0	2	2	3	3	2	2	6	3	rs371873445		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr15:79749775C>A	ENST00000305428.3	+	2	1361	c.1286C>A	c.(1285-1287)gCg>gAg	p.A429E		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	429						integral component of membrane (GO:0016021)		p.A429E(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATTGCTTATGCGGCAAAACAA	0.473																																																	1	Substitution - Missense(1)	lung(1)											65	68	67					15																	79749775		2196	4293	6489	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1286C>A	15.37:g.79749775C>A	ENSP00000307461:p.Ala429Glu		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.A429E	ENST00000305428.3	37	c.1286	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	C	4.175	0.031119	0.08101	.	.	ENSG00000169330	ENST00000305428	T	0.36520	1.25	5.14	-0.00273	0.14028	.	0.561913	0.20695	N	0.087391	T	0.26521	0.0648	L	0.51422	1.61	0.09310	N	1	B	0.24186	0.099	B	0.24974	0.057	T	0.17471	-1.0368	9	.	.	.	.	5.8821	0.18862	0.0:0.5409:0.1222:0.3369	.	429	Q9UPX6	K1024_HUMAN	E	429	ENSP00000307461:A429E	.	A	+	2	0	KIAA1024	77536830	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	0.920000	0.28705	-0.270000	0.09285	-0.333000	0.08304	GCG	KIAA1024	-	NULL	ENSG00000169330		0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1		0	39	0	C	NM_015206		79749775	1			no_errors	ENST00000305428	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.001	A	A	79749775	C	A	79749775	3	1	3	1	0	0	0	0	1	0	0	0	8232	768	27	2	1288	2	KIAA1024	15	79749775	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	4707519	79749775	22781617	197	844											
IFT140	9742	genome.wustl.edu	37	chr16	1621534	1621534	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggagttgtttgacagtcCcctgaggaaaaggaacaaga	14	7	14	6	0	0	3	0	2	0	1	1	7	1	7	2	4	1	2	2	4	4	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:1621534C>A	ENST00000426508.2	-	14	1889	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	509					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTTGACAGTCCCCTGAGGAAA	0.423																																																	0													64	59	61					16																	1621534		2199	4300	6499	SO:0001630	splice_region_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1525-1G>T	16.37:g.1621534C>A			A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G509V	ENST00000426508.2	37	c.1526	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563748	0.65651	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.79352	-1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89567	0.6752	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90128	0.4204	10	0.72032	D	0.01	.	19.5778	0.95452	0.0:1.0:0.0:0.0	.	509;234	Q96RY7;B4DR58	IF140_HUMAN;.	V	509	ENSP00000406012:G509V	ENSP00000380562:G509V	G	-	2	0	IFT140	1561535	1.000000	0.71417	0.985000	0.45067	0.812000	0.45895	6.788000	0.75105	2.728000	0.93425	0.655000	0.94253	GGG	IFT140	-	NULL	ENSG00000187535		0.423	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	70	0	C	NM_014714	Missense_Mutation	1621534	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	1621534	C	A	1621534	5	1	3	1	0	0	0	0	0	0	1	0	7583	637	22	3	2934	3	IFT140	16	1621534	Splice_Site	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09		1621534	88733219	198	845											
PRSS33	260429	genome.wustl.edu	37	chr16	2834785	2834785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagactgcaggcaggtcaGaggtcccccagaatcaccct	10	5	10	16	0	2	3	2	0	0	3	3	3	3	3	4	3	1	2	4	3	1	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:2834785G>T	ENST00000293851.5	-	6	862	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRSS33_ENST00000570702.1_Missense_Mutation_p.L235M|PRSS33_ENST00000576886.1_3'UTR	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	235	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						AGGCAGGTCAGAGGTCCCCCA	0.642																																					NSCLC(194;489 2153 16702 19171 27758)												0													22	26	24					16																	2834785		2024	4197	6221	SO:0001583	missense	0			AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"Serine peptidases / Serine peptidases"	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.703C>A	16.37:g.2834785G>T	ENSP00000293851:p.Leu235Met		A6NNQ3|Q8N171	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L235M	ENST00000293851.5	37	c.703	CCDS42110.1	16	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132781	0.56828	.	.	ENSG00000103355	ENST00000293851	D	0.91843	-2.92	4.72	4.72	0.59763	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43747	D	0.000540	D	0.95947	0.8680	M	0.82193	2.58	0.46586	D	0.999117	D	0.76494	0.999	D	0.80764	0.994	D	0.96154	0.9110	10	0.54805	T	0.06	.	15.2028	0.73153	0.0:0.0:1.0:0.0	.	235	Q8NF86	PRS33_HUMAN	M	235	ENSP00000293851:L235M	ENSP00000293851:L235M	L	-	1	2	PRSS33	2774786	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.620000	0.36976	2.174000	0.68829	0.556000	0.70494	CTG	PRSS33	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000103355		0.642	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS33	HGNC	protein_coding	OTTHUMT00000436446.1	-	0	71	0	G	NM_152891		2834785	-1	tier1	-	no_errors	ENST00000293851	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	2834785	G	T	2834785	3	4	3	1	0	0	0	0	1	0	0	0	12665	933	33	3	143	3	PRSS33	16	2834785	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	1213251	2834785	87519968	199	846											
ZC3H7A	29066	genome.wustl.edu	37	chr16	11855856	11855856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgggcgcacacaaactttAtcttcatattaagaaatcca	15	11	5	10	1	2	1	1	0	1	1	3	1	3	1	1	1	1	1	1	1	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:11855856A>G	ENST00000396516.2	-	17	2320	c.2123T>C	c.(2122-2124)aTa>aCa	p.I708T	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.I708T|ZC3H7A_ENST00000575984.1_5'Flank			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	708						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						CACAAACTTTATCTTCATATT	0.328																																																	0													97	86	90					16																	11855856		2196	4300	6496	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.2123T>C	16.37:g.11855856A>G	ENSP00000379773:p.Ile708Thr		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.I708T	ENST00000396516.2	37	c.2123	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688551	0.68271	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.11277	2.79;2.79	5.52	5.52	0.82312	.	0.080826	0.85682	D	0.000000	T	0.16128	0.0388	L	0.44542	1.39	0.80722	D	1	B;B	0.31705	0.336;0.227	B;B	0.40565	0.333;0.179	T	0.02352	-1.1172	10	0.87932	D	0	.	14.8175	0.70045	1.0:0.0:0.0:0.0	.	429;708	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	T	708	ENSP00000347999:I708T;ENSP00000379773:I708T	ENSP00000347999:I708T	I	-	2	0	ZC3H7A	11763357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.108000	0.94275	2.089000	0.63090	0.482000	0.46254	ATA	ZC3H7A	-	NULL	ENSG00000122299		0.328	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	-	0	65	0	A	NM_014153		11855856	-1	tier1	-	no_errors	ENST00000355758	ensembl	human	known	74_37	missense	54.55	15	18	SNP	1.000	G	G	11855856	A	G	11855856	3	3	3	1	0	0	0	0	1	0	0	0	17620	449	16	4	816	4	ZC3H7A	16	11855856	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	9021071	11855856	78498897	200	847											
NDE1	54820	genome.wustl.edu	37	chr16	15771674	15771674	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaagtttgaagtgcAgcactctgaaggctaccggc	11	8	13	9	1	2	3	1	2	1	1	2	4	2	3	1	3	3	4	1	3	4	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:15771674A>G	ENST00000396353.2	+	5	1080	c.254A>G	c.(253-255)cAg>cGg	p.Q85R	NDE1_ENST00000396355.1_Missense_Mutation_p.Q85R|NDE1_ENST00000342673.5_Missense_Mutation_p.Q85R|NDE1_ENST00000396354.1_Missense_Mutation_p.Q85R			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	85	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTTGAAGTGCAGCACTCTGAA	0.493																																																	0													99	87	91					16																	15771674		2197	4300	6497	SO:0001583	missense	0			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.254A>G	16.37:g.15771674A>G	ENSP00000379641:p.Gln85Arg		Q49AQ2	Missense_Mutation	SNP	pfam_NUDE_C	p.Q85R	ENST00000396353.2	37	c.254		16	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301817	0.81136	.	.	ENSG00000072864	ENST00000396355;ENST00000396353;ENST00000396354;ENST00000342673	.	.	.	5.12	5.12	0.69794	.	0.055385	0.85682	D	0.000000	T	0.76976	0.4063	M	0.73962	2.25	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.988	T	0.75065	-0.3449	9	0.25106	T	0.35	-26.1894	14.4205	0.67180	1.0:0.0:0.0:0.0	.	85;85	Q9NXR1;Q9NXR1-2	NDE1_HUMAN;.	R	85	.	ENSP00000345892:Q85R	Q	+	2	0	NDE1	15679175	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.403000	0.79983	2.053000	0.61076	0.533000	0.62120	CAG	NDE1	-	NULL	ENSG00000072864		0.493	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		-	0	33	0	A	NM_017668		15771674	1	tier1	-	no_errors	ENST00000396353	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	G	G	15771674	A	G	15771674	3	3	3	1	0	0	0	0	1	0	0	0	10282	188	7	4	264	4	NDE1	16	15771674	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	3915818	15771674	74583079	201	848											
ACSM1	116285	genome.wustl.edu	37	chr16	20682982	20682982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttaacacaggtgtgttctGgggatgctgatctgcaaagg	10	11	13	7	0	2	1	0	1	2	0	2	2	2	2	0	4	3	3	0	4	2	2	rs146437386		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:20682982G>A	ENST00000307493.4	-	4	690	c.623C>T	c.(622-624)cCa>cTa	p.P208L	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.P208L	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	208					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.P208Q(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGTGTGTTCTGGGGATGCTGA	0.468																																																	1	Substitution - Missense(1)	skin(1)											126	110	116					16																	20682982		2201	4300	6501	SO:0001583	missense	0			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"Acyl-CoA synthetase family"	18049	protein-coding gene	gene with protein product		614357	"butyryl Coenzyme A synthetase 1"	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.623C>T	16.37:g.20682982G>A	ENSP00000301956:p.Pro208Leu		Q08AH2|Q96A20	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P208L	ENST00000307493.4	37	c.623	CCDS10587.1	16	.	.	.	.	.	.	.	.	.	.	G	3.904	-0.021369	0.07634	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.39787	1.06;1.06	5.19	2.0	0.26442	AMP-dependent synthetase/ligase (1);	0.178051	0.27640	N	0.018465	T	0.37376	0.1001	L	0.59436	1.845	0.09310	N	0.999993	P	0.42518	0.782	B	0.39503	0.301	T	0.22661	-1.0210	10	0.29301	T	0.29	.	12.8316	0.57748	0.0:0.0:0.5808:0.4192	.	208	Q08AH1	ACSM1_HUMAN	L	208	ENSP00000301956:P208L;ENSP00000428047:P208L	ENSP00000301956:P208L	P	-	2	0	ACSM1	20590483	0.867000	0.29959	0.070000	0.20053	0.086000	0.17979	2.302000	0.43637	0.748000	0.32831	-0.182000	0.12963	CCA	ACSM1	-	pfam_AMP-dep_Synth/Lig	ENSG00000166743		0.468	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1		0	45	0	G	NM_052956		20682982	-1			no_errors	ENST00000307493	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.010	A	A	20682982	G	A	20682982	3	1	3	1	0	0	0	0	1	0	0	0	182	1348	47	3	1150	3	ACSM1	16	20682982	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	4911308	20682982	69671771	202	849											
SRCAP	10847	genome.wustl.edu	37	chr16	30734421	30734421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcttccagctgtgttgaatCcacgccccacgttaacccct	7	10	8	16	2	0	1	0	1	0	0	2	1	2	1	6	1	2	4	6	1	2	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:30734421C>G	ENST00000262518.4	+	24	4415	c.4030C>G	c.(4030-4032)Cca>Gca	p.P1344A	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1186A|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1282A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1344	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTGTTGAATCCACGCCCCAC	0.622																																																	0													83	83	83					16																	30734421		2197	4300	6497	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4030C>G	16.37:g.30734421C>G	ENSP00000262518:p.Pro1344Ala		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P1344A	ENST00000262518.4	37	c.4030	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123736	0.37436	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92965	-3.14;-2.91;-2.83	5.83	2.79	0.32731	.	0.236521	0.30401	N	0.009714	T	0.80939	0.4720	N	0.14661	0.345	0.25180	N	0.990218	B;B;B	0.18310	0.011;0.027;0.004	B;B;B	0.13407	0.009;0.009;0.004	T	0.68435	-0.5409	10	0.44086	T	0.13	-0.9197	3.1598	0.06516	0.1439:0.5652:0.139:0.152	.	1186;1282;1344	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	A	1344;1282;1186	ENSP00000262518:P1344A;ENSP00000378499:P1282A;ENSP00000343042:P1186A	ENSP00000262518:P1344A	P	+	1	0	SRCAP	30641922	0.997000	0.39634	0.999000	0.59377	0.988000	0.76386	1.355000	0.34068	0.373000	0.24621	0.655000	0.94253	CCA	SRCAP	-	NULL	ENSG00000080603		0.622	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0	58	0	C	NM_006662		30734421	1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	G	G	30734421	C	G	30734421	3	3	3	1	0	0	0	0	1	0	0	0	15182	855	30	5	4116	5	SRCAP	16	30734421	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	10051439	30734421	59620332	203	850											
C16orf93	90835	genome.wustl.edu	37	chr16	30771670	30771670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgtctgctccagtgagaagCcctgctggcggcagaaaatg	10	7	13	11	2	1	2	0	1	1	2	2	3	2	2	2	2	3	3	2	2	3	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr16:30771670C>T	ENST00000543610.1	-	4	1365	c.404G>A	c.(403-405)gGc>gAc	p.G135D	PHKG2_ENST00000563588.1_3'UTR|RNF40_ENST00000357890.5_5'Flank|RNF40_ENST00000402121.3_5'Flank|RNF40_ENST00000563683.1_5'Flank|PHKG2_ENST00000424889.3_3'UTR|RNF40_ENST00000324685.6_5'Flank|C16orf93_ENST00000545825.1_Missense_Mutation_p.G135D|C16orf93_ENST00000541260.1_Missense_Mutation_p.G135D	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	135										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CAGTGAGAAGCCCTGCTGGCG	0.617																																																	0													68	75	72					16																	30771670		2197	4300	6497	SO:0001583	missense	0			BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.404G>A	16.37:g.30771670C>T	ENSP00000437532:p.Gly135Asp		A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	NULL	p.G135D	ENST00000543610.1	37	c.404	CCDS32434.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257847|4.257847	0.80246|0.80246	.|.	.|.	ENSG00000196118|ENSG00000196118	ENST00000535476|ENST00000354963;ENST00000543610;ENST00000545825	.|.	.|.	.|.	4.76|4.76	3.79|3.79	0.43588|0.43588	.|.	.|0.276251	.|0.30901	.|N	.|0.008643	T|T	0.54431|0.54431	0.1858|0.1858	L|L	0.53249|0.53249	1.67|1.67	0.33635|0.33635	D|D	0.606515|0.606515	.|D;P;P	.|0.57571	.|0.98;0.573;0.944	.|P;B;P	.|0.51135	.|0.66;0.343;0.563	T|T	0.63937|0.63937	-0.6524|-0.6524	5|9	.|0.30854	.|T	.|0.27	-22.7576|-22.7576	12.3455|12.3455	0.55118|0.55118	0.0:0.914:0.0:0.0859|0.0:0.914:0.0:0.0859	.|.	.|135;98;135	.|F5GX13;A1A4V9-2;A1A4V9	.|.;.;CP093_HUMAN	T|D	32|98;135;135	.|.	.|ENSP00000347050:G98D	A|G	-|-	1|2	0|0	C16orf93|C16orf93	30679171|30679171	0.940000|0.940000	0.31905|0.31905	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	0.858000|0.858000	0.27845|0.27845	2.474000|2.474000	0.83562|0.83562	0.462000|0.462000	0.41574|0.41574	GCT|GGC	C16orf93	-	NULL	ENSG00000196118		0.617	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf93	HGNC	protein_coding	OTTHUMT00000397089.1	-	0	33	0	C	NM_001014979		30771670	-1	tier1	-	no_errors	ENST00000543610	ensembl	human	known	74_37	missense	23.53	12	4	SNP	1.000	T	T	30771670	C	T	30771670	3	4	3	1	0	0	0	0	1	0	0	0	1851	739	26	3	615	3	C16orf93	16	30771670	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	37249	30771670	59583083	204	851											
CAMTA2	23125	genome.wustl.edu	37	chr17	4872598	4872598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttgctctggatcaggAtggccgcctgggtcatcttc	6	11	13	11	1	4	0	2	0	2	0	5	3	4	3	2	5	2	1	2	5	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:4872598A>G	ENST00000348066.3	-	21	3440	c.3317T>C	c.(3316-3318)aTc>aCc	p.I1106T	CAMTA2_ENST00000381311.5_Missense_Mutation_p.I1101T|SPAG7_ENST00000575142.1_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000414043.3_Missense_Mutation_p.I1129T|CAMTA2_ENST00000361571.5_Missense_Mutation_p.I1105T|SPAG7_ENST00000206020.3_5'Flank|CAMTA2_ENST00000572543.1_Missense_Mutation_p.I1111T|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.I1099T|SPAG7_ENST00000573366.1_5'Flank	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1106	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTGGATCAGGATGGCCGCCTG	0.587																																																	0													73	80	77					17																	4872598		2202	4300	6502	SO:0001583	missense	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3317T>C	17.37:g.4872598A>G	ENSP00000321813:p.Ile1106Thr		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.I1129T	ENST00000348066.3	37	c.3386	CCDS11063.1	17	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545554	0.65198	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	4.21	4.21	0.49690	.	0.138100	0.46442	D	0.000294	T	0.75917	0.3915	L	0.41710	1.295	0.43095	D	0.994777	D;D;D;D	0.76494	0.993;0.96;0.968;0.999	D;D;D;D	0.80764	0.977;0.948;0.969;0.994	T	0.76296	-0.3011	10	0.46703	T	0.11	-13.5584	11.309	0.49353	1.0:0.0:0.0:0.0	.	1129;1101;1106;1105	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	T	1129;1101;1105;1099;1106	ENSP00000412886:I1129T;ENSP00000370712:I1101T;ENSP00000354828:I1105T;ENSP00000350910:I1099T;ENSP00000321813:I1106T	ENSP00000321813:I1106T	I	-	2	0	CAMTA2	4813322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.072000	0.93986	1.778000	0.52293	0.460000	0.39030	ATC	CAMTA2	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	ENSG00000108509		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	-	0	92	0	A	NM_015099		4872598	-1	tier1	-	no_errors	ENST00000414043	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	G	G	4872598	A	G	4872598	3	3	3	1	0	0	0	0	1	0	0	0	2621	333	12	4	353	4	CAMTA2	17	4872598	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09		4872598	76322612	205	852											
TMEM102	284114	genome.wustl.edu	37	chr17	7339829	7339829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgattcgatccaccgaacGgagagcgaagaaagttccaa	14	6	11	10	5	0	3	0	1	0	2	3	7	2	3	3	1	2	1	3	1	4	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:7339829G>A	ENST00000323206.1	+	3	804	c.531G>A	c.(529-531)acG>acA	p.T177T	RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000293829.4_5'Flank|TMEM102_ENST00000396568.1_Silent_p.T177T|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	177					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCACCGAACGGAGAGCGAAG	0.582																																																	0													79	75	76					17																	7339829		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.531G>A	17.37:g.7339829G>A			D3DTP8	Silent	SNP	NULL	p.T177	ENST00000323206.1	37	c.531	CCDS11104.1	17																																																																																			TMEM102	-	NULL	ENSG00000181284		0.582	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM102	HGNC	protein_coding	OTTHUMT00000256405.1	-	0	55	0	G	NM_178518		7339829	1	tier1	-	no_errors	ENST00000323206	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.000	A	A	7339829	G	A	7339829	2	1	3	1	0	0	0	0	0	0	0	1	16064	1103	39	1		1	TMEM102	17	7339829	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2467231	7339829	73855381	206	853											
TP53	7157	genome.wustl.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs397516436		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	70	0	G	NM_000546		7578212	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	74.36	10	29	SNP	0.893	A	A	7578212	G	A	7578212	4	1	3	1	0	0	0	0	0	1	0	0	16429	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	238383	7578212	73616998	207	854											
GLP2R	9340	genome.wustl.edu	37	chr17	9791263	9791263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggggttcctggtggcCttgcagtatggttttgccaa	5	15	13	8	0	1	0	1	0	0	0	2	0	2	0	3	5	2	4	3	5	2	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:9791263C>T	ENST00000262441.5	+	12	1812	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A	GLP2R_ENST00000574745.1_Silent_p.A253A	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	433					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCCTGGTGGCCTTGCAGTATG	0.507																																																	0													334	283	300					17																	9791263		2203	4300	6503	SO:0001819	synonymous_variant	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1299C>T	17.37:g.9791263C>T			Q4VAT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A433	ENST00000262441.5	37	c.1299	CCDS11150.1	17																																																																																			GLP2R	-	pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000065325		0.507	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	-	0	78	0	C			9791263	1	tier1	-	no_errors	ENST00000262441	ensembl	human	known	74_37	silent	9.23	59	6	SNP	1.000	T	T	9791263	C	T	9791263	2	4	3	1	0	0	0	0	0	0	0	1	6479	668	24	3		3	GLP2R	17	9791263	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	2213051	9791263	71403947	208	855											
ERBB2	2064	genome.wustl.edu	37	chr17	37881000	37881000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatacgtgatggctggtGtgggctccccatatgtctcc	7	11	12	11	1	1	1	0	1	1	0	3	1	2	1	3	3	2	3	3	3	3	2	rs121913471		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:37881000G>T	ENST00000269571.5	+	20	2488	c.2329G>T	c.(2329-2331)Gtg>Ttg	p.V777L	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91	90	90					17																	37881000		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>T	17.37:g.37881000G>T	ENSP00000269571:p.Val777Leu		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V777L	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186331	0.57909	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.19485	0.0468	N	0.00165	-1.945	0.80722	D	1	B;B;B	0.13594	0.003;0.001;0.008	B;B;B	0.15484	0.013;0.002;0.013	T	0.30475	-0.9977	9	0.18710	T	0.47	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	L	747;762;501;777;747	ENSP00000385185:V747L;ENSP00000446466:V762L;ENSP00000404047:V501L;ENSP00000269571:V777L;ENSP00000443562:V747L	ENSP00000269571:V777L	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	45	0	G			37881000	1	tier1	rs121913471	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	76.74	10	33	SNP	1.000	T	T	37881000	G	T	37881000	3	4	3	1	0	0	0	0	1	0	0	0	5222	1377	48	3	2407	3	ERBB2	17	37881000	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	28089737	37881000	43314210	209	856											
KRT24	192666	genome.wustl.edu	37	chr17	38854886	38854886	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttctaccaccaaattCtgcaaaactagaaccactgg	14	10	6	11	0	2	2	0	1	2	1	2	2	2	2	3	1	4	2	3	1	6	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:38854886C>A	ENST00000264651.2	-	7	1434	c.1378G>T	c.(1378-1380)Gaa>Taa	p.E460*		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	460	Tail.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCACCAAATTCTGCAAAACTA	0.458																																					GBM(61;380 1051 14702 23642 31441)												0													100	109	106					17																	38854886		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1378G>T	17.37:g.38854886C>A	ENSP00000264651:p.Glu460*		Q9NXG7	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.E460*	ENST00000264651.2	37	c.1378	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839775	0.51057	.	.	ENSG00000167916	ENST00000264651	.	.	.	4.18	0.196	0.15159	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9512	0.19248	0.0:0.5423:0.0:0.4577	.	.	.	.	X	460	.	ENSP00000264651:E460X	E	-	1	0	KRT24	36108412	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.039000	0.13884	-0.091000	0.12440	0.591000	0.81541	GAA	KRT24	-	NULL	ENSG00000167916		0.458	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	-	0	44	0	C	NM_019016		38854886	-1	tier1	-	no_errors	ENST00000264651	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.000	A	A	38854886	C	A	38854886	4	1	3	1	0	0	0	0	0	1	0	0	8488	922	32	3	207	3	KRT24	17	38854886	Nonsense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	973886	38854886	42340324	210	857											
KRTAP4-7	100132476	genome.wustl.edu	37	chr17	39240822	39240822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcccctgctgctgcctgCgtccagtctgtggccgagtc	2	9	13	17	3	1	0	0	0	1	0	3	1	2	0	6	1	4	2	6	1	0	0	rs142279857		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:39240822C>T	ENST00000391417.4	+	1	364	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	177	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgctgcCTGCGTCCAGTCTG	0.657																																																	0																																										SO:0001583	missense	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.364C>T	17.37:g.39240822C>T	ENSP00000375236:p.Arg122Cys		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.R122C	ENST00000391417.4	37	c.364	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	17.40	3.379466	0.61845	.	.	ENSG00000240871	ENST00000391417	T	0.00611	6.23	3.69	-0.0403	0.13872	.	.	.	.	.	T	0.00496	0.0016	.	.	.	0.09310	N	0.999999	B	0.19200	0.034	B	0.16289	0.015	T	0.45026	-0.9289	8	0.72032	D	0.01	.	4.9853	0.14187	0.3749:0.5078:0.0:0.1172	.	177	Q9BYR0	KRA47_HUMAN	C	122	ENSP00000375236:R122C	ENSP00000375236:R122C	R	+	1	0	KRTAP4-7	36494348	0.209000	0.23505	0.818000	0.32626	0.789000	0.44602	-0.442000	0.06871	0.563000	0.29222	0.305000	0.20034	CGT	KRTAP4-7	-	NULL	ENSG00000240871		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	-	0	50	0	C			39240822	1	tier1	rs142279857	no_errors	ENST00000391417	ensembl	human	known	74_37	missense	88.89	5	40	SNP	0.039	T	T	39240822	C	T	39240822	3	4	3	1	0	0	0	0	1	0	0	0	8583	768	27	1	366	1	KRTAP4-7	17	39240822	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	385936	39240822	41954388	211	858											
ATP6V0A1	535	genome.wustl.edu	37	chr17	40642555	40642555	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaacaggatgcagacaaaCcagactcccccaacctataa	16	6	6	13	0	0	3	0	1	0	2	1	4	1	4	4	1	4	1	4	1	5	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:40642555C>T	ENST00000343619.4	+	11	1197	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N	ATP6V0A1_ENST00000544137.1_Silent_p.N4N|ATP6V0A1_ENST00000393829.2_Silent_p.N358N|ATP6V0A1_ENST00000585525.1_Silent_p.N315N|ATP6V0A1_ENST00000264649.6_Silent_p.N365N|ATP6V0A1_ENST00000537728.1_Silent_p.N315N|ATP6V0A1_ENST00000546249.1_Silent_p.N358N	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	358					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGCAGACAAACCAGACTCCCC	0.393																																																	0													127	123	124					17																	40642555		2203	4300	6503	SO:0001819	synonymous_variant	0			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"ATPases / V-type"	865	protein-coding gene	gene with protein product		192130	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 1", "ATPase, H+ transporting, lysosomal V0 subunit A1"	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1074C>T	17.37:g.40642555C>T			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	pfam_V-ATPase_116kDa_su	p.N365	ENST00000343619.4	37	c.1095	CCDS45684.1	17																																																																																			ATP6V0A1	-	pfam_V-ATPase_116kDa_su	ENSG00000033627		0.393	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	-	0	46	0	C	NM_001130020		40642555	1	tier1	-	no_errors	ENST00000264649	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.986	T	T	40642555	C	T	40642555	2	4	3	1	0	0	0	0	0	0	0	1	1169	506	18	3		3	ATP6V0A1	17	40642555	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	1401733	40642555	40552655	212	859											
HEXIM1	10614	genome.wustl.edu	37	chr17	43226787	43226787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctcccttgcagacccAggcctgtccagaatctagct	9	8	7	17	0	1	2	0	0	1	2	3	2	3	2	6	1	2	2	6	1	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:43226787A>G	ENST00000332499.2	+	1	2104	c.230A>G	c.(229-231)cAg>cGg	p.Q77R	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	77					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGCAGACCCAGGCCTGTCCA	0.662											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22	24	23					17																	43226787		2203	4299	6502	SO:0001583	missense	0			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.230A>G	17.37:g.43226787A>G	ENSP00000328773:p.Gln77Arg	914	B2R8Y5	Missense_Mutation	SNP	NULL	p.Q77R	ENST00000332499.2	37	c.230	CCDS11495.1	17	.	.	.	.	.	.	.	.	.	.	A	0.139	-1.104034	0.01828	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.13	1.66	0.24008	.	1.632230	0.03787	N	0.262291	T	0.19005	0.0456	N	0.08118	0	0.19575	N	0.999962	B	0.18310	0.027	B	0.14023	0.01	T	0.17745	-1.0359	9	0.25751	T	0.34	-1.2797	3.9356	0.09304	0.564:0.2055:0.0:0.2305	.	77	O94992	HEXI1_HUMAN	R	77	.	ENSP00000328773:Q77R	Q	+	2	0	HEXIM1	40582570	0.266000	0.24112	0.351000	0.25721	0.123000	0.20343	0.011000	0.13264	0.627000	0.30340	0.459000	0.35465	CAG	HEXIM1	-	NULL	ENSG00000186834		0.662	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM1	HGNC	protein_coding	OTTHUMT00000449821.2	-	0	52	0	A	NM_006460		43226787	1	tier1	-	no_errors	ENST00000332499	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.893	G	G	43226787	A	G	43226787	3	3	3	1	0	0	0	0	1	0	0	0	7103	188	7	4	232	4	HEXIM1	17	43226787	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	2584232	43226787	37968423	213	860											
TRIM37	4591	genome.wustl.edu	37	chr17	57079002	57079002	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accatgaaggagtcgtgaaaCccgcccacactggtatgctc	11	7	10	13	2	0	2	0	2	0	0	2	3	0	3	3	2	2	2	3	2	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:57079002C>A	ENST00000262294.7	-	23	3028	c.2769G>T	c.(2767-2769)ggG>ggT	p.G923G	TRIM37_ENST00000393065.2_Silent_p.G889G|TRIM37_ENST00000376149.3_Intron|TRIM37_ENST00000393066.3_Silent_p.G923G	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	923					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTCGTGAAACCCGCCCACAC	0.498									Mulibrey Nanism																																								0													164	131	142					17																	57079002		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2769G>T	17.37:g.57079002C>A			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.G923	ENST00000262294.7	37	c.2769	CCDS32694.1	17																																																																																			TRIM37	-	NULL	ENSG00000108395		0.498	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	-	0	38	0	C	NM_015294		57079002	-1	tier1	-	no_errors	ENST00000262294	ensembl	human	known	74_37	silent	75.68	9	28	SNP	0.010	A	A	57079002	C	A	57079002	2	1	3	1	0	0	0	0	0	0	0	1	16559	494	18	3		3	TRIM37	17	57079002	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	13852215	57079002	24116208	214	861											
ERN1	2081	genome.wustl.edu	37	chr17	62130146	62130146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctattactcacagggttCtccttacagtcttcgctcag	8	13	7	13	1	4	0	2	0	2	0	6	0	4	0	2	1	3	2	2	1	3	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:62130146C>T	ENST00000433197.3	-	17	2342	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACAGGGTTCTCCTTACAGT	0.527																																																	0													61	58	59					17																	62130146		1932	4137	6069	SO:0001819	synonymous_variant	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.2247G>A	17.37:g.62130146C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.E749	ENST00000433197.3	37	c.2247	CCDS45762.1	17																																																																																			ERN1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178607		0.527	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2	-	0	21	0	C	NM_001433		62130146	-1	tier1	-	no_errors	ENST00000433197	ensembl	human	known	74_37	silent	70.83	7	17	SNP	0.996	T	T	62130146	C	T	62130146	2	4	3	1	0	0	0	0	0	0	0	1	5253	912	32	3		3	ERN1	17	62130146	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5051144	62130146	19065064	215	862											
EVPL	2125	genome.wustl.edu	37	chr17	74004779	74004779	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacgtcaatctggacctGcaggttcttgcactcccgat	8	10	11	12	2	3	0	1	0	2	0	4	4	4	2	2	3	2	3	2	3	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr17:74004779G>A	ENST00000301607.3	-	22	4760	c.4507C>T	c.(4507-4509)Cag>Tag	p.Q1503*	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q1525*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1503	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						ATCTGGACCTGCAGGTTCTTG	0.587																																																	0													188	156	167					17																	74004779		2203	4300	6503	SO:0001587	stop_gained	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4507C>T	17.37:g.74004779G>A	ENSP00000301607:p.Gln1503*		A0AUV5	Nonsense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q1503*	ENST00000301607.3	37	c.4507	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.009261	0.98607	.	.	ENSG00000167880	ENST00000301607	.	.	.	4.88	3.91	0.45181	.	0.294729	0.32987	N	0.005406	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-41.9387	14.6851	0.69044	0.0:0.0:0.8534:0.1466	.	.	.	.	X	1503	.	ENSP00000301607:Q1503X	Q	-	1	0	EVPL	71516374	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	3.974000	0.56852	1.068000	0.40764	-0.219000	0.12488	CAG	EVPL	-	NULL	ENSG00000167880		0.587	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1		0	73	0	G	NM_001988		74004779	-1			no_errors	ENST00000301607	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	0.994	A	A	74004779	G	A	74004779	4	1	3	1	0	0	0	0	0	1	0	0	5308	1328	46	3	1598	3	EVPL	17	74004779	Nonsense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	11874633	74004779	7190431	216	863											
KIAA0802	23255	genome.wustl.edu	37	chr18	8784425	8784425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccatcggaggccagcgagCcatgccccacggagctcctg	8	4	13	16	3	0	0	0	0	0	0	2	3	1	2	6	3	5	1	6	3	0	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:8784425C>G	ENST00000306329.11	+	5	2395	c.2395C>G	c.(2395-2397)Cca>Gca	p.P799A	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Missense_Mutation_p.P439A|SOGA2_ENST00000517570.1_Missense_Mutation_p.P439A|SOGA2_ENST00000400050.3_Missense_Mutation_p.P439A																							GGCCAGCGAGCCATGCCCCAC	0.647																																																	0													55	70	65					18																	8784425		2203	4300	6503	SO:0001583	missense	0																														ENST00000306329.11:c.2395C>G	18.37:g.8784425C>G	ENSP00000305027:p.Pro799Ala			Missense_Mutation	SNP	pfam_SOGA	p.P439A	ENST00000306329.11	37	c.1315		18	.	.	.	.	.	.	.	.	.	.	C	2.667	-0.278399	0.05679	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.29655	1.56;1.56;1.56	5.13	2.09	0.27110	.	1.338180	0.05076	N	0.482544	T	0.24470	0.0593	L	0.50333	1.59	0.80722	D	1	B;B	0.24533	0.105;0.102	B;B	0.27500	0.037;0.08	T	0.46400	-0.9194	10	0.05525	T	0.97	-1.0467	4.1071	0.10041	0.1343:0.5942:0.1304:0.1411	.	460;439	A8MQ54;Q9Y4B5-3	.;.	A	460;439;439;439	ENSP00000429556:P439A;ENSP00000352927:P439A;ENSP00000382924:P439A	ENSP00000305027:P460A	P	+	1	0	CCDC165	8774425	0.300000	0.24435	0.734000	0.30879	0.108000	0.19459	1.379000	0.34340	1.108000	0.41662	0.591000	0.81541	CCA	SOGA2	-	NULL	ENSG00000168502		0.647	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0	100	0	C			8784425	1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	28.71	72	29	SNP	0.922	G	G	8784425	C	G	8784425	3	3	3	1	0	0	0	0	1	0	0	0	8221	739	26	5	1329	5	KIAA0802	18	8784425	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09		8784425	69292823	217	864											
FAM38B	63895	genome.wustl.edu	37	chr18	10671605	10671605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttggcatagagatcttcTtctagctccagttctcctgt	8	16	7	10	0	4	1	0	0	4	1	6	2	5	1	2	1	1	3	2	1	3	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:10671605T>C	ENST00000503781.3	-	52	8177	c.8178A>G	c.(8176-8178)gaA>gaG	p.E2726E	PIEZO2_ENST00000580640.1_Silent_p.E2751E|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000538948.1_Silent_p.E683E|PIEZO2_ENST00000302079.6_Silent_p.E2663E|PIEZO2_ENST00000285141.4_Silent_p.E518E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2726					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AGAGATCTTCTTCTAGCTCCA	0.373																																																	0													102	96	98					18																	10671605		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8178A>G	18.37:g.10671605T>C			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	pfam_Piezo	p.E683	ENST00000503781.3	37	c.2049		18																																																																																			PIEZO2	-	pfam_Piezo	ENSG00000154864		0.373	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	49	0	T	NM_022068		10671605	-1	tier1	-	no_errors	ENST00000538948	ensembl	human	known	74_37	silent	51.28	19	20	SNP	1.000	C	C	10671605	T	C	10671605	2	2	3	1	0	0	0	0	0	0	0	1	5577	1606	56	4		4	FAM38B	18	10671605	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	1887180	10671605	67405643	218	865											
ZNF521	25925	genome.wustl.edu	37	chr18	22806877	22806877	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtgattgcatgactcCggttgctggtgactgtccat	5	15	12	9	1	0	3	0	3	0	0	2	3	2	3	2	2	3	4	2	2	0	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:22806877C>A	ENST00000361524.3	-	4	1153	c.1005G>T	c.(1003-1005)ccG>ccT	p.P335P	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.P115P|ZNF521_ENST00000538137.2_Silent_p.P335P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.P335P(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCATGACTCCGGTTGCTGGT	0.527			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - coding silent(1)	large_intestine(1)											103	92	95					18																	22806877		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1005G>T	18.37:g.22806877C>A			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P335	ENST00000361524.3	37	c.1005	CCDS32806.1	18																																																																																			ZNF521	-	pfscan_Znf_C2H2	ENSG00000198795		0.527	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2		0	38	0	C	NM_015461		22806877	-1			no_errors	ENST00000361524	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.000	A	A	22806877	C	A	22806877	2	1	3	1	0	0	0	0	0	0	0	1	18013	639	23	2		2	ZNF521	18	22806877	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	12135272	22806877	55270371	219	866											
ASXL3	80816	genome.wustl.edu	37	chr18	31319073	31319073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactgcagtagagaccagtAcccccaaaataaaaacaggg	19	4	8	10	0	0	1	0	0	0	1	0	2	0	1	3	1	4	3	3	1	8	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:31319073A>G	ENST00000269197.5	+	11	1705	c.1705A>G	c.(1705-1707)Acc>Gcc	p.T569A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAGACCAGTACCCCCAAAAT	0.423																																																	0													66	63	64					18																	31319073		1898	4127	6025	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1705A>G	18.37:g.31319073A>G	ENSP00000269197:p.Thr569Ala		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.T569A	ENST00000269197.5	37	c.1705	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.289890	0.01387	.	.	ENSG00000141431	ENST00000269197	T	0.13420	2.59	5.47	-1.22	0.09494	.	1.305430	0.04941	N	0.458687	T	0.03783	0.0107	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.05721	T	0.95	.	1.4787	0.02432	0.3442:0.2505:0.283:0.1223	.	569	Q9C0F0	ASXL3_HUMAN	A	569	ENSP00000269197:T569A	ENSP00000269197:T569A	T	+	1	0	ASXL3	29573071	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.158000	0.10070	-0.127000	0.11661	0.383000	0.25322	ACC	ASXL3	-	NULL	ENSG00000141431		0.423	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	44	0	A			31319073	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.000	G	G	31319073	A	G	31319073	3	3	3	1	0	0	0	0	1	0	0	0	1069	391	14	4	1747	4	ASXL3	18	31319073	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	8512196	31319073	46758175	220	867											
TCEB3C	162699	genome.wustl.edu	37	chr18	44555352	44555352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggaggtcatggcctcaaAagcggacagcagatcgtagt	11	7	14	9	2	2	1	2	0	0	1	3	3	2	3	1	4	2	2	1	4	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:44555352A>G	ENST00000330682.2	-	1	1097	c.862T>C	c.(862-864)Ttt>Ctt	p.F288L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						ATGGCCTCAAAAGCGGACAGC	0.617																																																	0													121	128	126					18																	44555352		1792	3436	5228	SO:0001583	missense	0			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"elongin A3"					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.862T>C	18.37:g.44555352A>G	ENSP00000328232:p.Phe288Leu			Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.F288L	ENST00000330682.2	37	c.862	CCDS11931.1	18	.	.	.	.	.	.	.	.	.	.	a	0.022	-1.409181	0.01155	.	.	ENSG00000183791	ENST00000330682	T	0.09817	2.94	1.34	-1.64	0.08318	.	4.697510	0.01331	N	0.011242	T	0.05273	0.0140	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	10	0.10111	T	0.7	.	4.5973	0.12336	0.4161:0.0:0.5839:0.0	.	288	Q8NG57	ELOA3_HUMAN	L	288	ENSP00000328232:F288L	ENSP00000328232:F288L	F	-	1	0	TCEB3C	42809350	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.541000	0.06099	-0.419000	0.07439	-0.425000	0.05940	TTT	TCEB3C	-	NULL	ENSG00000183791		0.617	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3C	HGNC	protein_coding	OTTHUMT00000255902.1	-	0	406	0	A	NM_145653		44555352	-1	tier1	-	no_errors	ENST00000330682	ensembl	human	known	74_37	missense	6.90	243	18	SNP	0.000	G	G	44555352	A	G	44555352	3	3	3	1	0	0	0	0	1	0	0	0	15730	14	1	4	2425	4	TCEB3C	18	44555352	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	13236279	44555352	33521896	221	868											
TCEB3B	51224	genome.wustl.edu	37	chr18	44561163	44561163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatcagctggggctattctgGggcactttctctcagctctg	6	13	11	11	0	5	0	2	0	3	0	6	0	5	0	0	4	2	4	0	4	2	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:44561163G>C	ENST00000332567.4	-	1	825	c.473C>G	c.(472-474)cCc>cGc	p.P158R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	158					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCTATTCTGGGGCACTTTCT	0.672																																																	0													48	56	53					18																	44561163		2202	4299	6501	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.473C>G	18.37:g.44561163G>C	ENSP00000331302:p.Pro158Arg		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P158R	ENST00000332567.4	37	c.473	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	G	2.571	-0.299599	0.05532	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.33	-4.65	0.03339	.	367.945000	0.00166	N	0.000011	T	0.03915	0.0110	N	0.12182	0.205	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.33214	-0.9877	10	0.15499	T	0.54	-4.9274	1.9285	0.03322	0.2406:0.4256:0.18:0.1538	.	158	Q8IYF1	ELOA2_HUMAN	R	158	ENSP00000331302:P158R	ENSP00000331302:P158R	P	-	2	0	TCEB3B	42815161	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.481000	0.02323	-1.889000	0.01112	-0.443000	0.05667	CCC	TCEB3B	-	NULL	ENSG00000206181		0.672	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0	123	0	G	NM_016427		44561163	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	missense	58.06	13	18	SNP	0.000	C	C	44561163	G	C	44561163	3	2	3	1	0	0	0	0	1	0	0	0	15729	1232	43	5	1792	5	TCEB3B	18	44561163	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	5811	44561163	33516085	222	869											
WDR7	23335	genome.wustl.edu	37	chr18	54358513	54358513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggacagacatggaccGggggggactttgtctcatca	12	8	13	8	1	2	1	2	0	1	1	3	4	2	4	1	5	0	0	1	5	2	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:54358513G>T	ENST00000254442.3	+	8	995	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W	WDR7_ENST00000357574.3_Missense_Mutation_p.G262W|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	262					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GACATGGACCGGGGGGGACTT	0.418																																																	0													93	101	98					18																	54358513		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.784G>T	18.37:g.54358513G>T	ENSP00000254442:p.Gly262Trp		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G262W	ENST00000254442.3	37	c.784	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	25.4	4.635009	0.87760	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.55760	0.5;0.5	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.76069	-0.3094	10	0.72032	D	0.01	.	19.2552	0.93943	0.0:0.0:1.0:0.0	.	262;262	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	W	262	ENSP00000254442:G262W;ENSP00000350187:G262W	ENSP00000254442:G262W	G	+	1	0	WDR7	52509511	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.663000	0.98605	2.729000	0.93468	0.460000	0.39030	GGG	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000091157		0.418	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1		0	54	0	G			54358513	1			no_errors	ENST00000254442	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	54358513	G	T	54358513	3	4	3	1	0	0	0	0	1	0	0	0	17369	1116	39	2	810	2	WDR7	18	54358513	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	9797350	54358513	23718735	223	870											
SERPINB4	6318	genome.wustl.edu	37	chr18	61309035	61309035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgaagagcttgttggCgatcttcagctcatatgcat	8	14	9	10	2	4	1	2	0	2	1	5	3	4	1	1	1	3	4	1	1	2	5	rs201045585		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:61309035C>T	ENST00000341074.5	-	4	425	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A104T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	104					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A104T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AGCTTGTTGGCGATCTTCAGC	0.408																																																	1	Substitution - Missense(1)	ovary(1)						C	THR/ALA	0,4406		0,0,2203	213	196	202		310	2	0.4	18		202	2,8598	2.2+/-6.3	0,2,4298	no	missense	SERPINB4	NM_002974.2	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		104/391	61309035	2,13004	2203	4300	6503	SO:0001583	missense	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.310G>A	18.37:g.61309035C>T	ENSP00000343445:p.Ala104Thr		A8K847	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A104T	ENST00000341074.5	37	c.310	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263904	0.39995	0.0	2.33E-4	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.87179	-2.22;-2.22	3.76	1.97	0.26223	Serpin domain (3);	0.519560	0.16085	N	0.230317	D	0.87613	0.6221	M	0.88775	2.98	0.34048	D	0.655763	B;B	0.29531	0.183;0.247	B;B	0.30251	0.101;0.113	D	0.86997	0.2114	10	0.54805	T	0.06	.	8.955	0.35812	0.0:0.8113:0.0:0.1887	.	104;104	P48594;Q9BYF7	SPB4_HUMAN;.	T	104	ENSP00000343445:A104T;ENSP00000348795:A104T	ENSP00000343445:A104T	A	-	1	0	SERPINB4	59460015	0.984000	0.35163	0.425000	0.26659	0.060000	0.15804	2.658000	0.46733	0.390000	0.25115	-0.894000	0.02916	GCC	SERPINB4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206073		0.408	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	HGNC	protein_coding	OTTHUMT00000133794.2		0	90	0	C	NM_175041		61309035	-1			no_errors	ENST00000341074	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.974	T	T	61309035	C	T	61309035	3	4	3	1	0	0	0	0	1	0	0	0	14148	768	27	1	882	1	SERPINB4	18	61309035	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	6950522	61309035	16768213	224	871											
CCDC102B	79839	genome.wustl.edu	37	chr18	66678251	66678251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaactgactcatgcaaaCaaccgagtggatcaaaatga	17	6	9	9	1	2	3	2	2	0	1	2	5	2	4	1	1	4	2	1	1	5	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr18:66678251C>G	ENST00000360242.5	+	7	1461	c.1344C>G	c.(1342-1344)aaC>aaG	p.N448K	CCDC102B_ENST00000584156.1_Missense_Mutation_p.N448K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.N448K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	448										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CTCATGCAAACAACCGAGTGG	0.358																																																	0													107	100	103					18																	66678251		2203	4300	6503	SO:0001583	missense	0			AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 14", "aminoacylase 1-like"	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1344C>G	18.37:g.66678251C>G	ENSP00000353377:p.Asn448Lys		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	NULL	p.N448K	ENST00000360242.5	37	c.1344	CCDS11996.2	18	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466586	0.04476	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.12255	2.7;2.7	5.41	2.65	0.31530	.	0.349136	0.24623	N	0.036943	T	0.12561	0.0305	L	0.58810	1.83	0.53688	D	0.999979	B	0.27140	0.169	B	0.32583	0.148	T	0.09952	-1.0651	10	0.12103	T	0.63	-6.2251	5.6799	0.17769	0.0:0.6635:0.1607:0.1758	.	448	Q68D86	C102B_HUMAN	K	448	ENSP00000316237:N448K;ENSP00000353377:N448K	ENSP00000316237:N448K	N	+	3	2	CCDC102B	64829231	0.993000	0.37304	0.001000	0.08648	0.002000	0.02628	3.186000	0.50942	0.264000	0.21851	-0.882000	0.02950	AAC	CCDC102B	-	NULL	ENSG00000150636		0.358	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102B	HGNC	protein_coding	OTTHUMT00000256225.2	-	0	44	0	C	NM_024781		66678251	1	tier1	-	no_errors	ENST00000319445	ensembl	human	known	74_37	missense	60.00	10	15	SNP	0.687	G	G	66678251	C	G	66678251	3	3	3	1	0	0	0	0	1	0	0	0	2744	477	17	5	1366	5	CCDC102B	18	66678251	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	5369216	66678251	11398997	225	872											
ACTL9	284382	genome.wustl.edu	37	chr19	8808742	8808742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcagctctgggagcaCgcgggctgcctcgccgatga	6	6	15	14	5	2	1	1	1	1	0	3	3	2	2	2	2	4	3	2	2	0	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:8808742C>T	ENST00000324436.3	-	1	430	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	104						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCTGGGAGCACGCGGGCTGCC	0.697																																																	0													18	21	20					19																	8808742		2199	4298	6497	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.310G>A	19.37:g.8808742C>T	ENSP00000316674:p.Val104Met		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V104M	ENST00000324436.3	37	c.310	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	C	1.334	-0.595942	0.03771	.	.	ENSG00000181786	ENST00000324436	D	0.94576	-3.46	3.47	-6.94	0.01633	.	14.077800	0.00166	U	0.000003	D	0.84960	0.5588	N	0.12637	0.245	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.73248	-0.4043	10	0.87932	D	0	.	0.7649	0.01013	0.3308:0.303:0.1053:0.2609	.	104	Q8TC94	ACTL9_HUMAN	M	104	ENSP00000316674:V104M	ENSP00000316674:V104M	V	-	1	0	ACTL9	8669742	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.125000	0.10579	-1.720000	0.01380	-0.448000	0.05591	GTG	ACTL9	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000181786		0.697	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	-	0	29	0	C	NM_178525		8808742	-1	tier1	-	no_errors	ENST00000324436	ensembl	human	known	74_37	missense	75.00	7	21	SNP	0.000	T	T	8808742	C	T	8808742	3	4	3	1	0	0	0	0	1	0	0	0	203	536	19	1	944	1	ACTL9	19	8808742	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09		8808742	50320241	226	873											
MUC16	94025	genome.wustl.edu	37	chr19	9083708	9083708	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctcctatctgggttacTtactgtcttaagaaccagtg	9	14	9	9	0	2	1	0	0	2	1	3	2	3	1	2	1	4	2	2	1	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:9083708T>G	ENST00000397910.4	-	1	8310	c.8107A>C	c.(8107-8109)Agt>Cgt	p.S2703R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2703	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGGGTTACTTACTGTCTTA	0.483																																																	0													119	111	114					19																	9083708		1920	4138	6058	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8107A>C	19.37:g.9083708T>G	ENSP00000381008:p.Ser2703Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S2703R	ENST00000397910.4	37	c.8107	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	9.289	1.050103	0.19827	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.235	0.235	0.15431	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	.	.	.	D	0.58970	0.984	P	0.61070	0.883	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	2703	B5ME49	.	R	2703	ENSP00000381008:S2703R	ENSP00000381008:S2703R	S	-	1	0	MUC16	8944708	0.671000	0.27521	0.745000	0.31077	0.748000	0.42578	0.310000	0.19356	0.263000	0.21812	0.260000	0.18958	AGT	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	52	0	T	NM_024690		9083708	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	35.71	18	10	SNP	0.825	G	G	9083708	T	G	9083708	3	3	3	1	0	0	0	0	1	0	0	0	10011	1609	56	4	35752	4	MUC16	19	9083708	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	274966	9083708	50045275	227	874											
MUC16	94025	genome.wustl.edu	37	chr19	9086902	9086902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtgactccactactactgCtccctgttgttgtgttgtcc	4	15	10	12	0	0	1	0	1	0	0	3	1	3	1	3	1	3	4	3	1	2	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:9086902C>T	ENST00000397910.4	-	1	5116	c.4913G>A	c.(4912-4914)aGc>aAc	p.S1638N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1638	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTACTACTGCTCCCTGTTGT	0.493																																																	0													202	195	198					19																	9086902		2032	4190	6222	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4913G>A	19.37:g.9086902C>T	ENSP00000381008:p.Ser1638Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S1638N	ENST00000397910.4	37	c.4913	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.604	-0.080946	0.07141	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.33	0.251	0.15540	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	.	.	.	P	0.40282	0.711	B	0.32724	0.151	T	0.46119	-0.9214	8	0.87932	D	0	.	3.5139	0.07718	0.0:0.7293:0.0:0.2707	.	1638	B5ME49	.	N	1638	ENSP00000381008:S1638N	ENSP00000381008:S1638N	S	-	2	0	MUC16	8947902	0.000000	0.05858	0.001000	0.08648	0.144000	0.21451	-0.492000	0.06467	0.109000	0.17891	0.313000	0.20887	AGC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	83	0	C	NM_024690		9086902	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.001	T	T	9086902	C	T	9086902	3	4	3	1	0	0	0	0	1	0	0	0	10011	797	28	3	38946	3	MUC16	19	9086902	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	3194	9086902	50042081	228	875											
ARMC6	93436	genome.wustl.edu	37	chr19	19162794	19162794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaacagaatcggcaaGacctggtgaaagctggcgtg	14	6	13	8	2	0	4	0	2	0	2	1	4	0	4	1	3	3	2	1	3	5	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:19162794G>T	ENST00000535612.1	+	5	1075	c.643G>T	c.(643-645)Gac>Tac	p.D215Y	ARMC6_ENST00000546344.1_Missense_Mutation_p.D122Y|ARMC6_ENST00000269932.6_Missense_Mutation_p.D190Y|ARMC6_ENST00000392335.2_Missense_Mutation_p.D190Y|ARMC6_ENST00000392336.3_Missense_Mutation_p.D215Y	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	215					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GAATCGGCAAGACCTGGTGAA	0.602																																																	0													89	59	69					19																	19162794		2203	4300	6503	SO:0001583	missense	0			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.643G>T	19.37:g.19162794G>T	ENSP00000444156:p.Asp215Tyr		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D215Y	ENST00000535612.1	37	c.643	CCDS56089.1	19	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485106	0.26598	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.19	2.5	0.30297	Armadillo-like helical (1);Armadillo-type fold (1);	0.550786	0.19867	N	0.104297	T	0.70343	0.3213	L	0.51422	1.61	0.51482	D	0.999923	D	0.58620	0.983	P	0.57776	0.827	T	0.70414	-0.4878	10	0.56958	D	0.05	-6.7993	9.8387	0.40985	0.2234:0.0:0.7765:0.0	.	215	Q6NXE6	ARMC6_HUMAN	Y	190;215;190;190;122;190;122;126;126;215	ENSP00000376147:D190Y;ENSP00000444156:D215Y;ENSP00000441948:D190Y;ENSP00000269932:D190Y;ENSP00000444341:D122Y;ENSP00000446037:D190Y;ENSP00000437580:D122Y;ENSP00000376148:D215Y	ENSP00000269932:D190Y	D	+	1	0	ARMC6	19023794	1.000000	0.71417	0.946000	0.38457	0.278000	0.26855	3.714000	0.54889	0.986000	0.38683	0.462000	0.41574	GAC	ARMC6	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000105676		0.602	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	-	0	36	0	G	NM_033415		19162794	1	tier1	-	no_errors	ENST00000392336	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.998	T	T	19162794	G	T	19162794	3	4	3	1	0	0	0	0	1	0	0	0	956	942	33	3	578	3	ARMC6	19	19162794	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	10075892	19162794	39966189	229	876											
ZNF492	57615	genome.wustl.edu	37	chr19	22847875	22847875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacaccttactacacataaGatgattcatactggagagaa	16	10	6	9	0	2	3	2	1	0	2	2	5	2	4	1	1	3	0	1	1	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:22847875G>C	ENST00000456783.2	+	4	1648	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTACACATAAGATGATTCATA	0.378																																																	0													33	47	43					19																	22847875		2047	4256	6303	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1404G>C	19.37:g.22847875G>C	ENSP00000413660:p.Lys468Asn		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K468N	ENST00000456783.2	37	c.1404	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	8.998	0.979502	0.18812	.	.	ENSG00000229676	ENST00000456783	T	0.07567	3.18	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	L	0.54323	1.7	0.09310	N	1	B	0.26512	0.151	B	0.36766	0.232	T	0.38134	-0.9675	9	0.66056	D	0.02	.	4.1816	0.10378	0.0:0.0:0.6018:0.3982	.	468	Q9P255	ZN492_HUMAN	N	468	ENSP00000413660:K468N	ENSP00000413660:K468N	K	+	3	2	ZNF492	22639715	0.000000	0.05858	0.025000	0.17156	0.025000	0.11179	-0.211000	0.09332	0.269000	0.21961	0.274000	0.19336	AAG	ZNF492	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1		0	82	0	G	NM_020855		22847875	1			no_errors	ENST00000456783	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.003	C	C	22847875	G	C	22847875	3	2	3	1	0	0	0	0	1	0	0	0	17991	933	33	5	1414	5	ZNF492	19	22847875	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	3685081	22847875	36281108	230	877											
SPTBN4	57731	genome.wustl.edu	37	chr19	41008781	41008781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactactggcacagaggtttGaccacaaggtggctatgagg	12	8	13	8	0	0	3	0	2	0	1	0	3	0	3	1	5	2	3	1	5	4	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:41008781G>C	ENST00000352632.3	+	11	1389	c.1303G>C	c.(1303-1305)Gac>Cac	p.D435H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D435H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D435H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D435H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D435H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	435					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACAGAGGTTTGACCACAAGGT	0.597																																																	0													99	101	100					19																	41008781		2203	4300	6503	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.1303G>C	19.37:g.41008781G>C	ENSP00000263373:p.Asp435His		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D435H	ENST00000352632.3	37	c.1303	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357250	0.82243	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.49720	0.77;0.77;0.77	4.35	4.35	0.52113	.	0.000000	0.64402	U	0.000006	T	0.64011	0.2560	L	0.56396	1.775	0.80722	D	1	D;P	0.76494	0.999;0.949	D;P	0.87578	0.998;0.744	T	0.62831	-0.6771	10	0.36615	T	0.2	.	15.7894	0.78343	0.0:0.0:1.0:0.0	.	435;435	Q9H254;Q71S06	SPTN4_HUMAN;.	H	435	ENSP00000263373:D435H;ENSP00000340345:D435H;ENSP00000340741:D435H	ENSP00000340345:D435H	D	+	1	0	SPTBN4	45700621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.602000	0.98312	2.250000	0.74265	0.563000	0.77884	GAC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.597	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	16	0	G			41008781	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	C	C	41008781	G	C	41008781	3	2	3	1	0	0	0	0	1	0	0	0	15168	1290	45	5	1341	5	SPTBN4	19	41008781	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	18160906	41008781	18120202	231	878											
NUP62	23636	genome.wustl.edu	37	chr19	50412739	50412739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaagccgctggggtttGccatggctggggtggcagct	5	8	17	11	1	0	0	0	0	0	0	0	0	0	0	3	6	3	5	3	6	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:50412739G>T	ENST00000596217.1	-	2	2213	c.326C>A	c.(325-327)gCa>gAa	p.A109E	NUP62_ENST00000597723.1_Missense_Mutation_p.A109E|NUP62_ENST00000597029.1_Missense_Mutation_p.A109E|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000413454.1_Missense_Mutation_p.A109E|NUP62_ENST00000422090.2_Missense_Mutation_p.A109E|IL4I1_ENST00000341114.3_Intron|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.A109E			P37198	NUP62_HUMAN	nucleoporin 62kDa	109	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTGGGGTTTGCCATGGCTGG	0.572																																																	0													74	78	76					19																	50412739		2203	4300	6503	SO:0001583	missense	0			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.326C>A	19.37:g.50412739G>T	ENSP00000471191:p.Ala109Glu		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.A109E	ENST00000596217.1	37	c.326	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210300	0.22289	.	.	ENSG00000213024	ENST00000319225;ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.38560	1.13;1.13;1.13	5.2	-0.31	0.12765	Nucleoporin, NSP1-like, C-terminal (1);	0.342996	0.26096	U	0.026372	T	0.35740	0.0942	M	0.69823	2.125	0.09310	N	1	B;B	0.18610	0.029;0.017	B;B	0.18561	0.022;0.01	T	0.35126	-0.9801	10	0.66056	D	0.02	-2.1986	5.0861	0.14682	0.2088:0.3161:0.4751:0.0	.	109;109	Q8WYU3;P37198	.;NUP62_HUMAN	E	109	ENSP00000305503:A109E;ENSP00000407331:A109E;ENSP00000387991:A109E	ENSP00000321866:A109E	A	-	2	0	NUP62	55104551	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	0.378000	0.20569	0.079000	0.16929	0.655000	0.94253	GCA	NUP62	-	NULL	ENSG00000213024		0.572	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	-	0	95	0	G	NM_153719		50412739	-1	tier1	-	no_errors	ENST00000352066	ensembl	human	known	74_37	missense	53.73	31	36	SNP	0.000	T	T	50412739	G	T	50412739	3	4	3	1	0	0	0	0	1	0	0	0	10807	1319	46	3	1246	3	NUP62	19	50412739	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	9403958	50412739	8716244	232	879											
ZNF582	147948	genome.wustl.edu	37	chr19	56896146	56896146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattctcatgttgaattaGtcgtgagccatatttaaagg	13	15	8	5	1	1	2	1	2	1	0	3	2	1	2	1	1	1	1	1	1	7	7			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:56896146G>T	ENST00000301310.4	-	5	798	c.640C>A	c.(640-642)Cta>Ata	p.L214I	ZNF582_ENST00000586929.1_Missense_Mutation_p.L214I|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTTGAATTAGTCGTGAGCCA	0.343																																					Ovarian(183;1887 2032 4349 30507 51343)												0													67	69	69					19																	56896146		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.640C>A	19.37:g.56896146G>T	ENSP00000301310:p.Leu214Ile		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L214I	ENST00000301310.4	37	c.640	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463055	0.43736	.	.	ENSG00000018869	ENST00000301310	T	0.14640	2.49	4.78	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28895	N	0.013791	T	0.22205	0.0535	M	0.83692	2.655	0.09310	N	1	P;P	0.39520	0.676;0.63	B;B	0.43251	0.34;0.413	T	0.09207	-1.0685	10	0.87932	D	0	.	9.1667	0.37056	0.2443:0.0:0.7557:0.0	.	214;245	Q96NG8;B4DQZ9	ZN582_HUMAN;.	I	214	ENSP00000301310:L214I	ENSP00000301310:L214I	L	-	1	2	ZNF582	61587958	0.864000	0.29904	0.002000	0.10522	0.002000	0.02628	1.180000	0.32005	0.328000	0.23435	-0.218000	0.12543	CTA	ZNF582	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.343	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2		0	61	0	G	NM_144690		56896146	-1			no_errors	ENST00000301310	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.009	T	T	56896146	G	T	56896146	3	4	3	1	0	0	0	0	1	0	0	0	18062	1020	36	3	917	3	ZNF582	19	56896146	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	6483407	56896146	2232837	233	880											
ZNF584	201514	genome.wustl.edu	37	chr19	58928627	58928627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttaagtgtagtgactgtGgtaaaaccttcaaccgcaaa	13	12	8	8	1	1	1	1	1	0	0	1	1	1	1	2	1	2	3	2	1	6	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr19:58928627G>T	ENST00000306910.4	+	4	1265	c.742G>T	c.(742-744)Ggt>Tgt	p.G248C	CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Missense_Mutation_p.G203C|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TAGTGACTGTGGTAAAACCTT	0.453																																																	0													86	76	79					19																	58928627		2203	4300	6503	SO:0001583	missense	0			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"Zinc fingers, C2H2-type", "-"	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.742G>T	19.37:g.58928627G>T	ENSP00000306756:p.Gly248Cys		A8K203	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G248C	ENST00000306910.4	37	c.742	CCDS12979.1	19	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121155	0.56613	.	.	ENSG00000171574	ENST00000306910;ENST00000354635	T	0.66638	-0.22	3.78	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.81983	0.4938	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81464	-0.0921	9	0.87932	D	0	.	6.5454	0.22402	0.1129:0.1869:0.7002:0.0	.	248	Q8IVC4	ZN584_HUMAN	C	248;107	ENSP00000306756:G248C	ENSP00000306756:G248C	G	+	1	0	ZNF584	63620439	1.000000	0.71417	0.992000	0.48379	0.913000	0.54294	2.643000	0.46604	0.936000	0.37367	0.555000	0.69702	GGT	ZNF584	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171574		0.453	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF584	HGNC	protein_coding	OTTHUMT00000467022.1	-	0	50	0	G	NM_173548		58928627	1	tier1	-	no_errors	ENST00000306910	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	58928627	G	T	58928627	3	4	3	1	0	0	0	0	1	0	0	0	18064	1348	47	3	756	3	ZNF584	19	58928627	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2032481	58928627	200356	234	881											
TGM6	343641	genome.wustl.edu	37	chr20	2384435	2384435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgggcagtgactcccgCgtggacatcactgacctcta	7	8	13	13	3	2	2	1	2	1	0	3	3	3	3	2	3	0	1	2	3	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:2384435C>T	ENST00000202625.2	+	9	1363	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R	TGM6_ENST00000381423.1_Silent_p.R434R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	434					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTGACTCCCGCGTGGACATCA	0.587																																																	0													120	116	117					20																	2384435		2203	4300	6503	SO:0001819	synonymous_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1302C>T	20.37:g.2384435C>T			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.R434	ENST00000202625.2	37	c.1302	CCDS13025.1	20																																																																																			TGM6	-	NULL	ENSG00000166948		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0	19	0	C	NM_198994		2384435	1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	silent	27.03	27	10	SNP	0.138	T	T	2384435	C	T	2384435	2	4	3	1	0	0	0	0	0	0	0	1	15881	755	27	1		1	TGM6	20	2384435	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09		2384435	60641085	235	882											
GPCPD1	56261	genome.wustl.edu	37	chr20	5545710	5545710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctgaaaaggaattttcctCctgaaccacagattctgaaa	14	12	6	9	0	2	4	0	3	2	1	4	5	4	5	3	1	1	0	3	1	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:5545710C>T	ENST00000379019.4	-	15	1494	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	428	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GAATTTTCCTCCTGAACCACA	0.328																																																	0													110	112	111					20																	5545710		2203	4300	6503	SO:0001583	missense	0				CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1282G>A	20.37:g.5545710C>T	ENSP00000368305:p.Glu428Lys		D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20	p.E428K	ENST00000379019.4	37	c.1282	CCDS13090.1	20	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107465	0.56291	.	.	ENSG00000125772	ENST00000379019;ENST00000418646	T	0.11385	2.78	5.41	5.41	0.78517	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.217643	0.47093	D	0.000256	T	0.09949	0.0244	L	0.41906	1.305	0.53005	D	0.99996	P	0.37914	0.611	B	0.34536	0.185	T	0.11324	-1.0592	10	0.07175	T	0.84	-10.8455	19.1488	0.93479	0.0:1.0:0.0:0.0	.	428	Q9NPB8	GPCP1_HUMAN	K	428;87	ENSP00000368305:E428K	ENSP00000368305:E428K	E	-	1	0	GPCPD1	5493710	0.994000	0.37717	0.239000	0.24122	0.673000	0.39480	4.882000	0.63121	2.688000	0.91661	0.655000	0.94253	GAG	GPCPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000125772		0.328	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPCPD1	HGNC	protein_coding	OTTHUMT00000077869.1		0	28	0	C	NM_019593		5545710	-1			no_errors	ENST00000379019	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.958	T	T	5545710	C	T	5545710	3	4	3	1	0	0	0	0	1	0	0	0	6629	864	30	3	760	3	GPCPD1	20	5545710	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	3161275	5545710	57479810	236	883											
SSTR4	6754	genome.wustl.edu	37	chr20	23016449	23016449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgtcggccgccctgcGccactggcccttcggctccg	1	7	13	20	6	0	0	0	0	0	0	4	0	1	0	6	4	1	1	6	4	0	1	rs377034050		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:23016449G>T	ENST00000255008.3	+	1	393	c.329G>T	c.(328-330)cGc>cTc	p.R110L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	110					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCGCCCTGCGCCACTGGCCC	0.642																																					Esophageal Squamous(15;850 1104 16640)												0													86	86	86					20																	23016449		2201	4297	6498	SO:0001583	missense	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.329G>T	20.37:g.23016449G>T	ENSP00000255008:p.Arg110Leu		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.R110L	ENST00000255008.3	37	c.329	CCDS42856.1	20	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758349	0.49468	.	.	ENSG00000132671	ENST00000255008	T	0.19938	2.11	3.73	0.58	0.17402	GPCR, rhodopsin-like superfamily (1);	0.181706	0.36854	U	0.002378	T	0.12689	0.0308	L	0.47190	1.495	0.29424	N	0.860326	B	0.14805	0.011	B	0.17433	0.018	T	0.16660	-1.0395	10	0.21540	T	0.41	.	0.5274	0.00623	0.2938:0.1786:0.3453:0.1823	.	110	P31391	SSR4_HUMAN	L	110	ENSP00000255008:R110L	ENSP00000255008:R110L	R	+	2	0	SSTR4	22964449	0.014000	0.17966	0.963000	0.40424	0.967000	0.64934	-0.186000	0.09670	-0.034000	0.13713	0.561000	0.74099	CGC	SSTR4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000132671		0.642	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1		0	28	0	G			23016449	1			no_errors	ENST00000255008	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.992	T	T	23016449	G	T	23016449	3	4	3	1	0	0	0	0	1	0	0	0	15247	1087	38	2	331	2	SSTR4	20	23016449	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	17470739	23016449	40009071	237	884											
TMEM90B	79953	genome.wustl.edu	37	chr20	24523982	24523982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccctgcagcagtcagtGgagtcccgctaccggcccaa	10	5	10	16	2	1	0	1	0	0	0	2	1	2	1	4	2	4	3	4	2	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:24523982G>A	ENST00000376862.3	+	2	882	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	83					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AGCAGTCAGTGGAGTCCCGCT	0.677																																																	0													45	44	44					20																	24523982		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.249G>A	20.37:g.24523982G>A			Q6IA30|Q9H514	Silent	SNP	pfam_CD225/Dispanin_fam	p.V83	ENST00000376862.3	37	c.249	CCDS13164.1	20																																																																																			SYNDIG1	-	NULL	ENSG00000101463		0.677	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1		0	43	0	G	NM_024893		24523982	1			no_errors	ENST00000376862	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.964	A	A	24523982	G	A	24523982	2	1	3	1	0	0	0	0	0	0	0	1	16266	1335	47	3		3	TMEM90B	20	24523982	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	1507533	24523982	38501538	238	885											
MYLK2	85366	genome.wustl.edu	37	chr20	30409338	30409338	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccacggatcccaggccAgccaaggcagaagaaggaaa	15	1	12	13	1	0	2	0	0	0	2	1	4	1	4	5	4	2	1	5	4	4	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:30409338A>G	ENST00000375994.2	+	3	843	c.570A>G	c.(568-570)ccA>ccG	p.P190P	MYLK2_ENST00000375985.4_Silent_p.P190P			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	190					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCCCAGGCCAGCCAAGGCAG	0.592																																																	0													55	56	56					20																	30409338		2203	4300	6503	SO:0001819	synonymous_variant	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.570A>G	20.37:g.30409338A>G			Q569L1|Q96I84	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P190	ENST00000375994.2	37	c.570	CCDS13191.1	20																																																																																			MYLK2	-	NULL	ENSG00000101306		0.592	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2		0	34	0	A	NM_033118		30409338	1			no_errors	ENST00000375985	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.954	G	G	30409338	A	G	30409338	2	3	3	1	0	0	0	0	0	0	0	1	10095	175	7	4		4	MYLK2	20	30409338	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	5885356	30409338	32616182	239	886											
TTLL9	164395	genome.wustl.edu	37	chr20	30512818	30512818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttgcctgacaggccgcaAgtttgacctgcgtgtctatg	6	12	11	12	2	1	2	0	2	1	0	2	2	2	2	4	1	2	2	4	1	2	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:30512818A>G	ENST00000375938.4	+	9	924	c.671A>G	c.(670-672)aAg>aGg	p.K224R	TTLL9_ENST00000375921.2_Missense_Mutation_p.K151R|TTLL9_ENST00000310998.4_Missense_Mutation_p.K174R|TTLL9_ENST00000535842.1_Missense_Mutation_p.K224R|TTLL9_ENST00000375934.4_Missense_Mutation_p.K206R|TTLL9_ENST00000375922.4_Missense_Mutation_p.K151R			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	224	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAGGCCGCAAGTTTGACCTG	0.498																																																	0													66	66	66					20																	30512818		1943	4123	6066	SO:0001583	missense	0			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.671A>G	20.37:g.30512818A>G	ENSP00000365105:p.Lys224Arg		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.K224R	ENST00000375938.4	37	c.671	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181449	0.78677	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	H	0.98111	4.15	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.83346	-0.0005	10	0.87932	D	0	.	11.2437	0.48985	1.0:0.0:0.0:0.0	.	224;111	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	R	224;224;174;151;169;206;151	ENSP00000365105:K224R;ENSP00000442515:K224R;ENSP00000308980:K174R;ENSP00000365086:K151R;ENSP00000365100:K206R;ENSP00000365088:K151R	ENSP00000308980:K174R	K	+	2	0	TTLL9	29976479	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.246000	0.78247	1.895000	0.54865	0.454000	0.30748	AAG	TTLL9	-	pfam_TTL/TTLL_fam	ENSG00000131044		0.498	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		-	0	41	0	A	NM_001008409		30512818	1	tier1	-	no_errors	ENST00000375938	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	G	G	30512818	A	G	30512818	3	3	3	1	0	0	0	0	1	0	0	0	16783	72	3	4	701	4	TTLL9	20	30512818	Missense_Mutation	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	103480	30512818	32512702	240	887											
C20orf186	149954	genome.wustl.edu	37	chr20	31671358	31671358	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcatcagggacctcCgaaacagtggctatcgcagt	12	6	13	10	2	1	0	1	0	0	0	3	3	2	2	2	3	2	3	2	3	3	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:31671358C>T	ENST00000375483.3	+	3	355	c.355C>T	c.(355-357)Cga>Tga	p.R119*		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	119						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CAGGGACCTCCGAAACAGTGG	0.587																																																	0													73	67	69					20																	31671358		2203	4300	6503	SO:0001587	stop_gained	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"BPI fold containing"	16179	protein-coding gene	gene with protein product		615718	"chromosome 20 open reading frame 186"	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.355C>T	20.37:g.31671358C>T	ENSP00000364632:p.Arg119*		Q5TDX6	Nonsense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.R119*	ENST00000375483.3	37	c.355	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	C	9.908	1.208715	0.22205	.	.	ENSG00000186191	ENST00000375483	.	.	.	3.28	1.2	0.21068	.	1.013370	0.07936	N	0.978416	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5271	5.8243	0.18544	0.2231:0.5604:0.2165:0.0	.	.	.	.	X	119	.	ENSP00000364632:R119X	R	+	1	2	BPIFB4	31135019	0.746000	0.28272	0.035000	0.18076	0.037000	0.13140	2.038000	0.41184	0.190000	0.20209	-0.502000	0.04539	CGA	BPIFB4	-	NULL	ENSG00000186191		0.587	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	-	0	37	0	C	NM_182519		31671358	1	tier1	-	no_errors	ENST00000375483	ensembl	human	known	74_37	nonsense	26.09	34	12	SNP	0.035	T	T	31671358	C	T	31671358	4	4	3	1	0	0	0	0	0	1	0	0	2105	644	23	1	365	1	C20orf186	20	31671358	Nonsense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	1158540	31671358	31354162	241	888											
EDEM2	55741	genome.wustl.edu	37	chr20	33719456	33719456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttttacctaggaacatgGccatgagcttcttatcctga	10	14	7	10	0	1	2	0	2	1	0	2	3	2	3	3	2	3	1	3	2	4	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:33719456G>A	ENST00000374492.3	-	7	938	c.833C>T	c.(832-834)gCc>gTc	p.A278V	EDEM2_ENST00000374491.3_Missense_Mutation_p.A241V|EDEM2_ENST00000541621.1_Missense_Mutation_p.A57V|EDEM2_ENST00000542871.1_Missense_Mutation_p.A2V|EDEM2_ENST00000540582.1_Missense_Mutation_p.A237V	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	278					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TAGGAACATGGCCATGAGCTT	0.468																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													168	186	180					20																	33719456		2203	4300	6503	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.833C>T	20.37:g.33719456G>A	ENSP00000363616:p.Ala278Val		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.A278V	ENST00000374492.3	37	c.833	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199371	0.58126	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	6.01	6.01	0.97437	.	0.239229	0.50627	D	0.000116	T	0.45836	0.1362	L	0.52905	1.665	0.35830	D	0.82527	B;B;B;B	0.16166	0.016;0.008;0.005;0.007	B;B;B;B	0.25884	0.064;0.012;0.012;0.02	T	0.44997	-0.9291	10	0.39692	T	0.17	-17.1251	20.5211	0.99222	0.0:0.0:1.0:0.0	.	237;57;241;278	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	V	241;278;57;2;237	ENSP00000363615:A241V;ENSP00000363616:A278V;ENSP00000443528:A57V;ENSP00000441642:A2V;ENSP00000441548:A237V	ENSP00000363615:A241V	A	-	2	0	EDEM2	33183117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.332000	0.59279	2.861000	0.98227	0.650000	0.86243	GCC	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.468	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	-	0	56	0	G	NM_018217		33719456	-1	tier1	-	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	33719456	G	A	33719456	3	1	3	1	0	0	0	0	1	0	0	0	4926	1203	42	3	923	3	EDEM2	20	33719456	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	2048098	33719456	29306064	242	889											
KIAA1755	85449	genome.wustl.edu	37	chr20	36869132	36869132	+	Frame_Shift_Del	DEL	G	G	-																															gagaatttgagcccaggagtGgggggctcaggggaggaggt																								rs141704693		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:36869132delG	ENST00000279024.4	-	3	1672	c.1401delC	c.(1399-1401)cccfs	p.P467fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	467										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCCCAGGAGTGGGGGGCTCAG	0.557																																																	0													57	61	60					20																	36869132		2203	4300	6503	SO:0001589	frameshift_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1401delC	20.37:g.36869132delG	ENSP00000279024:p.Pro467fs		Q9C0A8	Frame_Shift_Del	DEL	superfamily_CRAL-TRIO_dom	p.T468fs	ENST00000279024.4	37	c.1401	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.557	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3		0	80	0	G	NM_001029864		36869132	-1	tier1		no_errors	ENST00000279024	ensembl	human	known	74_37	frame_shift_del	31.94	49	23	DEL	0.000	-	-	36869132	G	-	36869132	7	5	3	1	0	1	0	1	0	0	0	0	8284	1335	47	0	2249	0	KIAA1755	20	36869132	Frame_Shift_Del	DEL	G	TCGA-2H-A9GH-01A-11D-A37C-09	3149676	36869132	26156388	243	890											
PIGT	51604	genome.wustl.edu	37	chr20	44047496	44047496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtctctatccagtgtgGataaatcttggaaggagctc	9	14	11	7	0	2	0	0	0	2	0	5	3	3	3	1	3	1	1	1	3	4	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:44047496G>T	ENST00000279036.6	+	3	450	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	PIGT_ENST00000543458.2_Intron|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Missense_Mutation_p.D124Y|PIGT_ENST00000535404.1_Missense_Mutation_p.W2C	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	124					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				ATCCAGTGTGGATAAATCTTG	0.512																																																	0													153	134	141					20																	44047496		2203	4300	6503	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.370G>T	20.37:g.44047496G>T	ENSP00000279036:p.Asp124Tyr		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_PIG-T	p.D124Y	ENST00000279036.6	37	c.370	CCDS13353.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.28|16.28	3.078717|3.078717	0.55753|0.55753	.|.	.|.	ENSG00000124155|ENSG00000124155	ENST00000372689;ENST00000279036|ENST00000535404	T;T|T	0.47869|0.45668	0.83;0.83|0.89	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.102974|.	0.64402|.	D|.	0.000004|.	T|T	0.63651|0.63651	0.2529|0.2529	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D|D	0.55385|0.89917	0.971|1.0	P|D	0.57244|0.85130	0.816|0.997	T|T	0.66188|0.66188	-0.5986|-0.5986	10|9	0.40728|0.87932	T|D	0.16|0	-7.7919|-7.7919	12.4366|12.4366	0.55602|0.55602	0.0758:0.0:0.9242:0.0|0.0758:0.0:0.9242:0.0	.|.	124|64	Q969N2|Q969N2-2	PIGT_HUMAN|.	Y|C	124|2	ENSP00000361774:D124Y;ENSP00000279036:D124Y|ENSP00000440528:W2C	ENSP00000279036:D124Y|ENSP00000440528:W2C	D|W	+|+	1|3	0|0	PIGT|PIGT	43480910|43480910	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	6.459000|6.459000	0.73513|0.73513	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	GAT|TGG	PIGT	-	pfam_PIG-T	ENSG00000124155		0.512	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	-	0	54	0	G	NM_015937		44047496	1	tier1	-	no_errors	ENST00000279036	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	T	T	44047496	G	T	44047496	3	4	3	1	0	0	0	0	1	0	0	0	11938	1174	41	3	380	3	PIGT	20	44047496	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	7178364	44047496	18978024	244	891											
LAMA5	3911	genome.wustl.edu	37	chr20	60903938	60903938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtatccggtggcacagCgggagcagtcacggccaatg	9	5	14	13	3	1	0	1	0	0	0	2	1	2	1	3	4	2	3	3	4	2	1	rs200572038		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:60903938C>T	ENST00000252999.3	-	34	4475	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1470	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGTGGCACAGCGGGAGCAGTC	0.657																																																	0													43	47	45					20																	60903938		2203	4296	6499	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4409G>A	20.37:g.60903938C>T	ENSP00000252999:p.Arg1470His		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R1470H	ENST00000252999.3	37	c.4409	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862453	0.32884	.	.	ENSG00000130702	ENST00000252999	T	0.64260	-0.09	4.34	4.34	0.51931	EGF-like, laminin (4);	0.208574	0.44097	U	0.000499	T	0.60521	0.2275	M	0.79926	2.475	0.80722	D	1	P	0.42584	0.784	B	0.35971	0.215	T	0.68250	-0.5458	10	0.56958	D	0.05	.	11.4868	0.50358	0.0:0.9107:0.0:0.0893	.	1470	O15230	LAMA5_HUMAN	H	1470	ENSP00000252999:R1470H	ENSP00000252999:R1470H	R	-	2	0	LAMA5	60337333	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	1.341000	0.33907	1.935000	0.56089	0.305000	0.20034	CGC	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000130702		0.657	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	87	0	C	NM_005560		60903938	-1	tier1	rs200572038	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	60903938	C	T	60903938	3	4	3	1	0	0	0	0	1	0	0	0	8637	768	27	1	6866	1	LAMA5	20	60903938	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	16856442	60903938	2121582	245	892											
KCNQ2	3785	genome.wustl.edu	37	chr20	62038490	62038490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcggacactggacaGggggcgcggccgggggcgcc	5	2	23	11	5	0	0	0	0	0	0	0	3	0	3	2	9	0	0	2	9	0	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr20:62038490G>T	ENST00000359125.2	-	17	2300	c.2126C>A	c.(2125-2127)cCt>cAt	p.P709H	KCNQ2_ENST00000360480.3_Missense_Mutation_p.P681H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P691H|KCNQ2_ENST00000344462.4_Missense_Mutation_p.P678H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P717H|KCNQ2_ENST00000354587.3_Missense_Mutation_p.P717H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P709H	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	709					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACACTGGACAgggggcgcggc	0.716																																																	0													4	5	5					20																	62038490		1997	4044	6041	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2126C>A	20.37:g.62038490G>T	ENSP00000352035:p.Pro709His		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P717H	ENST00000359125.2	37	c.2150	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	G	8.879	0.951114	0.18431	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99098	-5.26;-5.41;-5.42;-5.18;-5.41;-5.26;-5.25;-5.34;-5.19	4.82	4.82	0.62117	.	0.811209	0.10919	N	0.619671	D	0.95881	0.8659	N	0.14661	0.345	0.09310	N	1	P;B;B;P	0.37708	0.606;0.429;0.25;0.472	B;B;B;B	0.37692	0.164;0.256;0.186;0.203	D	0.91496	0.5215	10	0.16420	T	0.52	-26.2921	11.0907	0.48115	0.0:0.137:0.7217:0.1413	.	681;691;678;709	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	H	691;709;679;717;709;678;681;705;717	ENSP00000349789:P691H;ENSP00000352035:P709H;ENSP00000359246:P679H;ENSP00000346601:P717H;ENSP00000352718:P709H;ENSP00000399612:P678H;ENSP00000353668:P681H;ENSP00000339611:P705H;ENSP00000359244:P717H	ENSP00000339611:P705H	P	-	2	0	KCNQ2	61508934	0.002000	0.14202	0.161000	0.22692	0.205000	0.24178	0.858000	0.27845	2.241000	0.73720	0.491000	0.48974	CCT	KCNQ2	-	NULL	ENSG00000075043		0.716	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0	59	0	G	NM_172109		62038490	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.050	T	T	62038490	G	T	62038490	3	4	3	1	0	0	0	0	1	0	0	0	8110	1000	35	3	496	3	KCNQ2	20	62038490	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	1134552	62038490	987030	246	893											
ADAMTS1	9510	genome.wustl.edu	37	chr21	28210407	28210407	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggagccgctgtacctcaAgacaacacctttgtacataa	14	8	8	11	1	1	2	1	0	0	2	1	3	1	3	3	1	4	3	3	1	5	4	rs148288841		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:28210407A>G	ENST00000284984.3	-	9	2849	c.2395T>C	c.(2395-2397)Ttg>Ctg	p.L799L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	799	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTGTACCTCAAGACAACACCT	0.473																																																	0								A		1,4405	2.1+/-5.4	0,1,2202	71	62	65		2395	-0.9	0.3	21	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous	ADAMTS1	NM_006988.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		799/968	28210407	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2395T>C	21.37:g.28210407A>G			D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.L799	ENST00000284984.3	37	c.2395	CCDS33524.1	21																																																																																			ADAMTS1	-	pfam_ADAM_spacer1	ENSG00000154734		0.473	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	-	0	37	0	A			28210407	-1	tier1	rs148288841	no_errors	ENST00000284984	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.904	G	G	28210407	A	G	28210407	2	3	3	1	0	0	0	0	0	0	0	1	255	69	3	4		4	ADAMTS1	21	28210407	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09		28210407	19919488	247	894											
TTC3	7267	genome.wustl.edu	37	chr21	38537906	38537906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacatgagtaacaagatGttctctgcagaatatgagtt	13	13	10	5	0	1	4	0	2	1	2	2	5	1	5	0	1	2	4	0	1	4	5	rs373912303		TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:38537906G>T	ENST00000399017.2	+	33	6137	c.3390G>T	c.(3388-3390)atG>atT	p.M1130I	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.M1130I|TTC3_ENST00000355666.1_Missense_Mutation_p.M1130I	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1130					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTAACAAGATGTTCTCTGCAG	0.373																																					Ovarian(38;194 1649 35661)												0								G	ILE/MET,ILE/MET	0,4406		0,0,2203	128	140	136		3390,3390	1.1	1	21		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TTC3	NM_001001894.1,NM_003316.3	10,10	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign	1130/2026,1130/2026	38537906	1,13005	2203	4300	6503	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3390G>T	21.37:g.38537906G>T	ENSP00000381981:p.Met1130Ile		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.M1130I	ENST00000399017.2	37	c.3390	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.348913|1.348913	0.24426|0.24426	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182670|ENSG00000182670	ENST00000411496|ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	.|T;T;T;T;T	.|0.09350	.|3.0;2.99;3.37;3.37;3.37	4.75|4.75	1.09|1.09	0.20402|0.20402	.|.	.|0.582196	.|0.16312	.|N	.|0.219946	T|T	0.09512|0.09512	0.0234|0.0234	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B;B	.|0.15473	.|0.008;0.013	.|B;B	.|0.11329	.|0.006;0.002	T|T	0.16453|0.16453	-1.0402|-1.0402	5|10	.|0.25751	.|T	.|0.34	-5.681|-5.681	9.0271|9.0271	0.36236|0.36236	0.4948:0.0:0.5052:0.0|0.4948:0.0:0.5052:0.0	.|.	.|188;1130	.|Q5GIT6;P53804	.|.;TTC3_HUMAN	F|I	286|1130;1112;1130;1130;1130	.|ENSP00000403943:M1130I;ENSP00000391891:M1112I;ENSP00000347889:M1130I;ENSP00000381981:M1130I;ENSP00000346791:M1130I	.|ENSP00000346791:M1130I	C|M	+|+	2|3	0|0	TTC3|TTC3	37459776|37459776	0.997000|0.997000	0.39634|0.39634	0.991000|0.991000	0.47740|0.47740	0.958000|0.958000	0.62258|0.62258	0.189000|0.189000	0.17037|0.17037	0.119000|0.119000	0.18210|0.18210	0.591000|0.591000	0.81541|0.81541	TGT|ATG	TTC3	-	NULL	ENSG00000182670		0.373	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0	107	0	G			38537906	1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.961	T	T	38537906	G	T	38537906	3	4	3	1	0	0	0	0	1	0	0	0	16746	1377	48	3	3516	3	TTC3	21	38537906	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	10327499	38537906	9591989	248	895											
TTC3	7267	genome.wustl.edu	37	chr21	38537977	38537977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcaggaggtttaaaacCttttctcttgggatgccctc	11	12	9	9	0	1	0	0	0	1	0	3	2	1	2	2	3	3	2	2	3	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:38537977C>A	ENST00000399017.2	+	33	6208	c.3461C>A	c.(3460-3462)cCt>cAt	p.P1154H	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.P1154H|TTC3_ENST00000355666.1_Missense_Mutation_p.P1154H	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1154			P -> S (in dbSNP:rs1053840).		negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGTTTAAAACCTTTTCTCTTG	0.398																																					Ovarian(38;194 1649 35661)												0													156	171	166					21																	38537977		2203	4300	6503	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3461C>A	21.37:g.38537977C>A	ENSP00000381981:p.Pro1154His		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.P1154H	ENST00000399017.2	37	c.3461	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377119	0.42105	.	.	ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749	T;T;T;T;T	0.12672	2.66;2.67;2.99;2.99;2.99	4.75	3.82	0.43975	.	0.620047	0.15266	N	0.271529	T	0.10208	0.0250	N	0.08118	0	0.80722	D	1	P;B	0.36315	0.547;0.412	B;B	0.41036	0.346;0.121	T	0.28004	-1.0057	10	0.72032	D	0.01	-0.0118	12.4396	0.55617	0.1878:0.8122:0.0:0.0	.	212;1154	Q5GIT6;P53804	.;TTC3_HUMAN	H	1154;1136;1154;1154;1154	ENSP00000403943:P1154H;ENSP00000391891:P1136H;ENSP00000347889:P1154H;ENSP00000381981:P1154H;ENSP00000346791:P1154H	ENSP00000346791:P1154H	P	+	2	0	TTC3	37459847	0.108000	0.22018	0.381000	0.26106	0.858000	0.48976	3.303000	0.51858	1.051000	0.40369	0.591000	0.81541	CCT	TTC3	-	NULL	ENSG00000182670		0.398	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0	52	0	C			38537977	1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	28.85	37	15	SNP	0.937	A	A	38537977	C	A	38537977	3	1	3	1	0	0	0	0	1	0	0	0	16746	681	24	3	3587	3	TTC3	21	38537977	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	71	38537977	9591918	249	896											
COL6A1	1291	genome.wustl.edu	37	chr21	47406477	47406477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaataagtacctgattgtgGtgaccgacgggcaccccctg	10	8	12	11	2	0	3	0	2	0	1	0	4	0	3	4	2	1	2	4	2	3	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:47406477G>T	ENST00000361866.3	+	4	580	c.466G>T	c.(466-468)Gtg>Ttg	p.V156L		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	156	N-terminal globular domain.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGATTGTGGTGACCGACGG	0.617																																																	0													32	33	32					21																	47406477		2176	4279	6455	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.466G>T	21.37:g.47406477G>T	ENSP00000355180:p.Val156Leu		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V156L	ENST00000361866.3	37	c.466	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669103	0.67814	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	T	0.80033	-1.33	3.74	3.74	0.42951	von Willebrand factor, type A (3);	0.083332	0.48767	D	0.000168	D	0.83170	0.5196	L	0.37750	1.13	0.58432	D	0.999996	D	0.69078	0.997	D	0.79108	0.992	T	0.79502	-0.1777	10	0.16896	T	0.51	-5.2279	15.56	0.76237	0.0:0.0:1.0:0.0	.	156	P12109	CO6A1_HUMAN	L	156	ENSP00000355180:V156L	ENSP00000355180:V156L	V	+	1	0	COL6A1	46230905	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	6.041000	0.70988	1.648000	0.50643	0.297000	0.19635	GTG	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.617	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	116	0	G	NM_001848		47406477	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	26.74	63	23	SNP	1.000	T	T	47406477	G	T	47406477	3	4	3	1	0	0	0	0	1	0	0	0	3706	1261	44	3	480	3	COL6A1	21	47406477	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09	8868500	47406477	723418	250	897											
LSS	4047	genome.wustl.edu	37	chr21	47635094	47635094	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcaggggcactgacCgggccgatgctgatgctctt	5	7	17	12	3	1	2	0	2	1	0	1	3	1	2	3	5	2	4	3	5	0	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr21:47635094C>G	ENST00000397728.3	-	9	1089	c.1011G>C	c.(1009-1011)ccG>ccC	p.P337P	LSS_ENST00000356396.4_Splice_Site_p.P337P|LSS_ENST00000457828.2_Splice_Site_p.P257P|LSS_ENST00000464357.1_5'Flank|LSS_ENST00000522411.1_Splice_Site_p.P326P	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	337					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGCACTGACCGGGCCGATGC	0.642																																					Pancreas(114;955 2313 34923 50507)												0													58	59	59					21																	47635094		2203	4300	6503	SO:0001630	splice_region_variant	0			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1011+1G>C	21.37:g.47635094C>G			B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.P337	ENST00000397728.3	37	c.1011	CCDS13733.1	21																																																																																			LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	ENSG00000160285		0.642	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	-	0	61	0	C		Silent	47635094	-1	tier1	-	no_errors	ENST00000356396	ensembl	human	known	74_37	silent	54.17	22	26	SNP	1.000	G	G	47635094	C	G	47635094	5	3	3	1	0	0	0	0	0	0	1	0	9100	666	23	5	1243	5	LSS	21	47635094	Splice_Site	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	228617	47635094	494801	251	898											
MN1	4330	genome.wustl.edu	37	chr22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcccagcgcgctcataGcaggatccacagggccaggg	8	5	14	14	3	1	0	1	0	0	0	3	1	2	1	3	3	2	3	3	3	1	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													55	62	60					22																	28196380		1912	4117	6029	SO:0001583	missense	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.152C>T	22.37:g.28196380G>A	ENSP00000304956:p.Ala51Val		A9Z1V9	Missense_Mutation	SNP	NULL	p.A51V	ENST00000302326.4	37	c.152	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830427	0.50845	.	.	ENSG00000169184	ENST00000302326	T	0.72505	-0.66	4.74	3.69	0.42338	.	0.134339	0.49916	D	0.000132	T	0.56352	0.1979	N	0.19112	0.55	0.30923	N	0.727811	B	0.22414	0.069	B	0.21360	0.034	T	0.60255	-0.7299	10	0.59425	D	0.04	-8.1729	13.6175	0.62118	0.0:0.1574:0.8426:0.0	.	51	Q10571	MN1_HUMAN	V	51	ENSP00000304956:A51V	ENSP00000304956:A51V	A	-	2	0	MN1	26526380	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	3.083000	0.50136	1.057000	0.40506	0.462000	0.41574	GCT	MN1	-	NULL	ENSG00000169184		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1		0	31	0	G	NM_002430		28196380	-1			no_errors	ENST00000302326	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A	A	28196380	G	A	28196380	3	1	3	1	0	0	0	0	1	0	0	0	9711	971	34	3	3818	3	MN1	22	28196380	Missense_Mutation	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		28196380	23108186	252	899											
TCF20	6942	genome.wustl.edu	37	chr22	42606752	42606752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcttgcttcggtgaaatCgtcactgtatcgttctcctt	5	16	7	13	3	3	1	1	1	2	0	7	1	3	1	2	1	1	3	2	1	2	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:42606752C>T	ENST00000359486.3	-	1	4696	c.4560G>A	c.(4558-4560)acG>acA	p.T1520T	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Silent_p.T1520T	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCGGTGAAATCGTCACTGTAT	0.473																																																	0													106	92	97					22																	42606752		2203	4300	6503	SO:0001819	synonymous_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4560G>A	22.37:g.42606752C>T			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Silent	SNP	smart_Znf_PHD	p.T1520	ENST00000359486.3	37	c.4560	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.473	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	-	0	66	0	C	NM_181492		42606752	-1	tier1	-	no_errors	ENST00000359486	ensembl	human	known	74_37	silent	28.26	33	13	SNP	0.001	T	T	42606752	C	T	42606752	2	4	3	1	0	0	0	0	0	0	0	1	15737	871	31	1		1	TCF20	22	42606752	Silent	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	14410372	42606752	8697814	253	900											
PLXNB2	23654	genome.wustl.edu	37	chr22	50726368	50726371	+	Frame_Shift_Del	DEL	TCCC	TCCC	-																															gccaccccaggcactcaccgTccctcgacgacgcaccagcc																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	TCCC	TCCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:50726368_50726371delTCCC	ENST00000449103.1	-	6	1616_1619	c.1476_1479delGGGA	c.(1474-1479)gagggafs	p.EG492fs	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.EG492fs			O15031	PLXB2_HUMAN	plexin B2	492					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACTCACCGTCCCTCGACGACGC	0.706																																																	0																																										SO:0001589	frameshift_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.1476_1479delGGGA	22.37:g.50726368_50726371delTCCC	ENSP00000409171:p.Glu492fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E492fs	ENST00000449103.1	37	c.1479_1476	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000196576		0.706	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	31	0	TCCC	NM_012401		50726371	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	21.05	15	4	DEL	0.611:1.000:1.000:1.000	-	-	50726371	TCCC	-	50726368	7	5	3	1	0	1	0	1	0	0	0	0	12163	1654	58	0	4165	0	PLXNB2	22	50726368	Frame_Shift_Del	DEL	TCCC	TCGA-2H-A9GH-01A-11D-A37C-09	8119616	50726368	578198	254	901											
SBF1	6305	genome.wustl.edu	37	chr22	50898076	50898076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggacactctggggcaCgatcagcagccctgggtagc	7	7	14	13	1	2	0	1	0	1	0	3	2	3	1	2	4	3	3	2	4	1	1			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chr22:50898076C>T	ENST00000390679.3	-	27	3695	c.3511G>A	c.(3511-3513)Gtg>Atg	p.V1171M	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.V1172M|SBF1_ENST00000380817.3_Missense_Mutation_p.V1171M			O95248	MTMR5_HUMAN	SET binding factor 1	1171	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTGGGGCACGATCAGCAGC	0.701																																																	0													14	17	16					22																	50898076		2162	4239	6401	SO:0001583	missense	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3511G>A	22.37:g.50898076C>T	ENSP00000375097:p.Val1171Met		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.V1171M	ENST00000390679.3	37	c.3511		22	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694271	0.88735	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.95171	-3.63;-3.63;-3.63	4.68	4.68	0.58851	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.98693	1.0697	10	0.87932	D	0	.	17.3562	0.87336	0.0:1.0:0.0:0.0	.	1171;1171	O95248;O95248-4	MTMR5_HUMAN;.	M	1171;1172;1181;1171	ENSP00000370196:V1171M;ENSP00000252027:V1172M;ENSP00000375097:V1171M	ENSP00000336522:V1181M	V	-	1	0	SBF1	49244942	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	5.662000	0.68032	2.429000	0.82318	0.561000	0.74099	GTG	SBF1	-	pfam_Myotubularin-like_Pase_dom	ENSG00000100241		0.701	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding			0	44	0	C			50898076	-1			no_errors	ENST00000380817	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	50898076	C	T	50898076	3	4	3	1	0	0	0	0	1	0	0	0	13903	536	19	1	2230	1	SBF1	22	50898076	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	171708	50898076	406490	255	902											
ZBED1	9189	genome.wustl.edu	37	chrX	2406811	2406811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctgccccactccgggcGttctcatacagaaacacctg	8	8	8	17	2	2	1	1	0	2	1	4	1	3	1	5	1	3	1	5	1	2	2			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:2406811G>A	ENST00000381223.4	-	2	2153	c.1950C>T	c.(1948-1950)aaC>aaT	p.N650N	ZBED1_ENST00000381218.3_Silent_p.N650N|ZBED1_ENST00000515319.1_Intron|ZBED1_ENST00000381222.2_Silent_p.N650N|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	650					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACTCCGGGCGTTCTCATACA	0.682													G|||	0	0	0	0	5008	,	,		15092	0		0	False		,,,				2504	0																0													103	109	107					X																	2406811		2203	4296	6499	SO:0001819	synonymous_variant	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1950C>T	X.37:g.2406811G>A			Q96BY4	Silent	SNP	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.N650	ENST00000381223.4	37	c.1950	CCDS14118.1	X																																																																																			ZBED1	-	pfam_HATC_dom_C,superfamily_RNaseH-like_dom	ENSG00000214717		0.682	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	-	0	120	0	G	NM_004729		2406811	-1	tier1	-	no_errors	ENST00000381218	ensembl	human	known	74_37	silent	75.32	19	58	SNP	0.611	A	A	2406811	G	A	2406811	2	1	3	1	0	0	0	0	0	0	0	1	17566	1136	40	1		1	ZBED1	23	2406811	Silent	SNP	G	TCGA-2H-A9GH-01A-11D-A37C-09		2406811	152863749	256	903											
ARSF	416	genome.wustl.edu	37	chrX	3002339	3002339	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaccagtgccaccatccAtataattatgggtttgacta	12	12	8	9	0	0	2	0	2	0	0	1	2	1	2	4	1	1	1	4	1	4	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:3002339A>T	ENST00000381127.1	+	6	683	c.462A>T	c.(460-462)ccA>ccT	p.P154P	ARSF_ENST00000537104.1_Silent_p.P154P|ARSF_ENST00000359361.2_Silent_p.P154P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	154					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCACCATCCATATAATTATG	0.483																																																	0													142	112	122					X																	3002339		2203	4300	6503	SO:0001819	synonymous_variant	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.462A>T	X.37:g.3002339A>T			Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.P154	ENST00000381127.1	37	c.462	CCDS14123.1	X																																																																																			ARSF	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.483	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0	23	0	A			3002339	1	tier1	-	no_errors	ENST00000359361	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.000	T	T	3002339	A	T	3002339	2	4	3	1	0	0	0	0	0	0	0	1	992	204	8	5		5	ARSF	23	3002339	Silent	SNP	A	TCGA-2H-A9GH-01A-11D-A37C-09	595528	3002339	152268221	257	904											
TXLNG	55787	genome.wustl.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-																															agaagctgatgaaaaacatcAgagagagagagagtttgtaa																										TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs		Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	pfam_Taxilin_fam	p.R326fs	ENST00000380122.5	37	c.968_969	CCDS14178.1	X																																																																																			TXLNG	-	pfam_Taxilin_fam	ENSG00000086712		0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1		0	30	0	AG	NM_018360		16850850	1	tier1		no_errors	ENST00000380122	ensembl	human	known	74_37	frame_shift_del	8.82	31	3	DEL	1.000:1.000	-	-	16850850	AG	-	16850849	7	5	3	1	0	1	0	1	0	0	0	0	16838	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-2H-A9GH-01A-11D-A37C-09	13848510	16850849	138419711	258	905											
ALAS2	212	genome.wustl.edu	37	chrX	55041310	55041310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctcccttgagcagcCgcacagattctagagctcca	8	9	7	17	1	2	3	0	1	2	2	5	3	4	3	5	0	3	3	5	0	1	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:55041310C>T	ENST00000330807.5	-	9	1444	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000396198.3_Missense_Mutation_p.R423Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.R399Q	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	436					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTGAGCAGCCGCACAGATTC	0.597																																																	0													36	29	31					X																	55041310		2202	4298	6500	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1307G>A	X.37:g.55041310C>T	ENSP00000332369:p.Arg436Gln		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.R436Q	ENST00000330807.5	37	c.1307	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344938	0.24426	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.95205	-3.64;-3.64;-3.64	5.64	2.9	0.33743	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.339032	0.31834	N	0.006998	D	0.88164	0.6363	N	0.25060	0.705	0.42109	D	0.991372	B;B;B	0.23937	0.083;0.083;0.094	B;B;B	0.24394	0.036;0.036;0.053	T	0.81874	-0.0732	10	0.36615	T	0.2	-6.0401	9.3295	0.38012	0.0:0.7526:0.0:0.2474	.	399;423;436	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	436;423;399	ENSP00000332369:R436Q;ENSP00000379501:R423Q;ENSP00000337131:R399Q	ENSP00000332369:R436Q	R	-	2	0	ALAS2	55058035	0.555000	0.26530	0.954000	0.39281	0.039000	0.13416	1.223000	0.32527	0.659000	0.30945	0.600000	0.82982	CGG	ALAS2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.597	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	-	0	24	0	C	NM_000032		55041310	-1	tier1	-	no_errors	ENST00000330807	ensembl	human	known	74_37	missense	67.65	11	23	SNP	0.994	T	T	55041310	C	T	55041310	3	4	3	1	0	0	0	0	1	0	0	0	485	652	23	1	468	1	ALAS2	23	55041310	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	38190461	55041310	100229250	259	906											
CYLC1	1538	genome.wustl.edu	37	chrX	83128496	83128496	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgatgatgaatccataaaTtttgatgcatggttaaggaa	14	14	9	4	0	1	4	0	4	1	0	2	5	2	5	1	2	1	2	1	2	5	4			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:83128496T>G	ENST00000329312.4	+	4	817	c.780T>G	c.(778-780)aaT>aaG	p.N260K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	260					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCCATAAATTTTGATGCAT	0.308																																																	0													39	37	38					X																	83128496		2194	4293	6487	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.780T>G	X.37:g.83128496T>G	ENSP00000331556:p.Asn260Lys		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.N260K	ENST00000329312.4	37	c.780	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	t	6.894	0.534380	0.13188	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.21361	2.01	4.78	2.27	0.28462	.	.	.	.	.	T	0.09555	0.0235	N	0.11427	0.14	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40701	-0.9549	9	0.14656	T	0.56	0.0035	6.6245	0.22823	0.475:0.0:0.0:0.525	.	260;260	P35663;F5H4V5	CYLC1_HUMAN;.	K	260	ENSP00000331556:N260K	ENSP00000331556:N260K	N	+	3	2	CYLC1	83015152	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.001000	0.12947	0.229000	0.21039	0.430000	0.28490	AAT	CYLC1	-	NULL	ENSG00000183035		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	28	0	T	NM_021118		83128496	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.000	G	G	83128496	T	G	83128496	3	3	3	1	0	0	0	0	1	0	0	0	4150	1490	52	4	794	4	CYLC1	23	83128496	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	28087186	83128496	72142064	260	907											
ZMAT1	84460	genome.wustl.edu	37	chrX	101152886	101152886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatgcctgatcatgttcctCcattaattgcttcagttttt	8	18	6	9	0	2	2	2	1	0	1	4	2	4	2	3	0	2	3	3	0	1	6			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:101152886C>T	ENST00000372782.3	-	5	507	c.460G>A	c.(460-462)Gag>Aag	p.E154K	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.E154K	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	154						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCATGTTCCTCCATTAATTGC	0.408																																																	0													141	107	118					X																	101152886		2203	4300	6503	SO:0001583	missense	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.460G>A	X.37:g.101152886C>T	ENSP00000361868:p.Glu154Lys		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.E154K	ENST00000372782.3	37	c.460	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	C	1.358	-0.589437	0.03799	.	.	ENSG00000166432	ENST00000372782;ENST00000540921	T;T	0.40756	1.02;1.02	4.59	2.8	0.32819	.	0.201474	0.24611	N	0.037060	T	0.34919	0.0914	M	0.65498	2.005	0.09310	N	0.999991	B	0.21071	0.051	B	0.16722	0.016	T	0.29549	-1.0008	10	0.11794	T	0.64	-2.612	8.0305	0.30461	0.0:0.7931:0.0:0.2069	.	154	Q5H9K5	ZMAT1_HUMAN	K	154	ENSP00000361868:E154K;ENSP00000437529:E154K	ENSP00000361868:E154K	E	-	1	0	ZMAT1	101039542	0.007000	0.16637	0.001000	0.08648	0.130000	0.20726	0.919000	0.28692	0.498000	0.27948	0.502000	0.49764	GAG	ZMAT1	-	NULL	ENSG00000166432		0.408	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	-	0	35	0	C			101152886	-1	tier1	-	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.003	T	T	101152886	C	T	101152886	3	4	3	1	0	0	0	0	1	0	0	0	17739	864	30	3	1468	3	ZMAT1	23	101152886	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	18024390	101152886	54117674	261	908											
LONRF3	79836	genome.wustl.edu	37	chrX	118148249	118148249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattgtggtttcattcgcTcaaattatccctaaagaatc	12	15	5	9	1	3	1	3	0	0	1	6	1	4	1	1	1	0	2	1	1	5	5			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:118148249T>C	ENST00000371628.3	+	10	2085	c.2054T>C	c.(2053-2055)cTc>cCc	p.L685P	LONRF3_ENST00000304778.7_Missense_Mutation_p.L644P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.L429P	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	685	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TTTCATTCGCTCAAATTATCC	0.423																																																	0													269	221	237					X																	118148249		2203	4300	6503	SO:0001583	missense	0			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"RING-type (C3HC4) zinc fingers"	21152	protein-coding gene	gene with protein product			"ring finger protein 127"	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.2054T>C	X.37:g.118148249T>C	ENSP00000360690:p.Leu685Pro		Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L685P	ENST00000371628.3	37	c.2054	CCDS35374.1	X	.	.	.	.	.	.	.	.	.	.	T	19.92	3.917088	0.73098	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	D;D;D;D	0.87029	-1.75;-1.75;-1.56;-2.2	5.7	5.7	0.88788	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.64402	D	0.000001	D	0.93989	0.8075	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.94764	0.7939	10	0.72032	D	0.01	-38.8377	13.99	0.64359	0.0:0.0:0.0:1.0	.	429;644;685	B3KUN7;Q496Y0-2;Q496Y0	.;.;LONF3_HUMAN	P	644;644;685;429	ENSP00000360691:L644P;ENSP00000307732:L644P;ENSP00000360690:L685P;ENSP00000408894:L429P	ENSP00000307732:L644P	L	+	2	0	LONRF3	118032277	1.000000	0.71417	0.491000	0.27477	0.658000	0.38924	8.040000	0.89188	1.901000	0.55032	0.486000	0.48141	CTC	LONRF3	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	ENSG00000175556		0.423	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	-	0	27	0	T	NM_024778		118148249	1	tier1	-	no_errors	ENST00000371628	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	C	C	118148249	T	C	118148249	3	2	3	1	0	0	0	0	1	0	0	0	8931	1551	54	4	2092	4	LONRF3	23	118148249	Missense_Mutation	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	16995363	118148249	37122311	262	909											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298805	125298805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagagcagggaaccatggCcggtgcccacagtgatgatg	12	5	15	9	1	0	4	0	2	0	2	0	5	0	5	3	3	3	1	3	3	2	0			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:125298805C>A	ENST00000360028.2	-	1	1129	c.1103G>T	c.(1102-1104)gGc>gTc	p.G368V	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G368V			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	368										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGAACCATGGCCGGTGCCCAC	0.652																																																	0													55	60	59					X																	125298805		2203	4300	6503	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1103G>T	X.37:g.125298805C>A	ENSP00000353128:p.Gly368Val		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G368V	ENST00000360028.2	37	c.1103	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212731	0.58452	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64260	-0.09;-0.09	4.05	3.16	0.36331	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36778	N	0.002412	T	0.75474	0.3854	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	P	0.62435	0.902	T	0.77003	-0.2749	10	0.54805	T	0.06	.	10.1414	0.42738	0.2006:0.7994:0.0:0.0	.	368	Q5VW00	DC122_HUMAN	V	368	ENSP00000441489:G368V;ENSP00000353128:G368V	ENSP00000353128:G368V	G	-	2	0	DCAF12L2	125126486	1.000000	0.71417	0.858000	0.33744	0.943000	0.58893	6.257000	0.72480	1.022000	0.39626	0.544000	0.68410	GGC	DCAF12L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198354		0.652	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	36	0	C	NM_001013628		125298805	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	87.50	3	21	SNP	1.000	A	A	125298805	C	A	125298805	3	1	3	1	0	0	0	0	1	0	0	0	4274	739	26	3	292	3	DCAF12L2	23	125298805	Missense_Mutation	SNP	C	TCGA-2H-A9GH-01A-11D-A37C-09	7150556	125298805	29971755	263	910											
CCDC160	347475	genome.wustl.edu	37	chrX	133378941	133378941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctgaacaaacgacTgcagatagcagcaagggaat	14	9	9	9	1	3	2	0	1	3	1	3	4	3	3	0	1	5	3	0	1	5	3			TCGA-2H-A9GH-01A-11D-A37C-09	TCGA-2H-A9GH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	210a2cc2-09cb-4b7a-8224-bede07eaa095	649ea019-02b4-46a5-8468-a38e572e7595	g.chrX:133378941T>C	ENST00000517294.1	+	3	494	c.111T>C	c.(109-111)acT>acC	p.T37T	CCDC160_ENST00000370809.4_Silent_p.T37T			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	37										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AACAAACGACTGCAGATAGCA	0.338																																																	0													25	24	24					X																	133378941		1807	4074	5881	SO:0001819	synonymous_variant	0			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.111T>C	X.37:g.133378941T>C				Silent	SNP	NULL	p.T37	ENST00000517294.1	37	c.111	CCDS48171.1	X																																																																																			CCDC160	-	NULL	ENSG00000203952		0.338	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC160	HGNC	protein_coding	OTTHUMT00000377679.1	-	0	66	0	T	NM_001101357		133378941	1	tier1	-	no_errors	ENST00000370809	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.000	C	C	133378941	T	C	133378941	2	2	3	1	0	0	0	0	0	0	0	1	2799	1567	55	4		4	CCDC160	23	133378941	Silent	SNP	T	TCGA-2H-A9GH-01A-11D-A37C-09	8080136	133378941	21891619	264	911											
WASF2	10163	genome.wustl.edu	37	chr1	27736419	27736419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtcagctgctggtggtGgaggaggaggtggaggggca	7	7	23	4	0	1	0	1	0	0	0	1	4	1	4	0	10	2	4	0	10	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:27736419G>T	ENST00000430629.2	-	8	1321	c.1106C>A	c.(1105-1107)cCa>cAa	p.P369Q	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	369	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGCTGGTGGTGGAGGAGGAGG	0.652																																																	0													81	83	83					1																	27736419		2203	4300	6503	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1106C>A	1.37:g.27736419G>T	ENSP00000396211:p.Pro369Gln		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P369Q	ENST00000430629.2	37	c.1106	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282335	0.40394	.	.	ENSG00000158195	ENST00000430629	T	0.54279	0.58	4.58	4.58	0.56647	.	0.511880	0.18937	N	0.127047	T	0.68476	0.3005	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.63871	-0.6539	10	0.18710	T	0.47	-4.1412	16.9582	0.86265	0.0:0.0:1.0:0.0	.	369	Q9Y6W5	WASF2_HUMAN	Q	369	ENSP00000396211:P369Q	ENSP00000396211:P369Q	P	-	2	0	WASF2	27609006	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.747000	0.62141	2.095000	0.63458	0.551000	0.68910	CCA	WASF2	-	NULL	ENSG00000158195		0.652	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1		0	101	0	G	NM_006990		27736419	-1			no_errors	ENST00000430629	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	27736419	G	T	27736419	3	4	4	1	0	0	0	0	1	0	0	0	17302	1348	47	3	398	3	WASF2	1	27736419	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		27736419	221514202	1	912											
KIAA0754	643314	genome.wustl.edu	37	chr1	39878348	39878348	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggagagattcagattCattcctaaatatttttccag	14	13	8	6	0	2	2	2	0	0	2	4	5	4	4	2	2	0	0	2	2	4	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:39878348C>A	ENST00000530275.1	+	1	2198	c.2003C>A	c.(2002-2004)tCa>tAa	p.S668*	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	668										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATTCAGATTCATTCCTAAAT	0.443																																																	0													57	58	58					1																	39878348		1890	4113	6003	SO:0001587	stop_gained	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2003C>A	1.37:g.39878348C>A	ENSP00000431179:p.Ser668*		E9PMC2|Q6ZSB2	Nonsense_Mutation	SNP	NULL	p.S668*	ENST00000530275.1	37	c.2003		1	.	.	.	.	.	.	.	.	.	.	C	37	6.129935	0.97310	.	.	ENSG00000255103	ENST00000530275	.	.	.	5.18	2.24	0.28232	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6678	0.28441	0.0:0.7227:0.0:0.2773	.	.	.	.	X	668	.	ENSP00000431179:S668X	S	+	2	0	RP4-562N20.1	39650935	0.001000	0.12720	0.002000	0.10522	0.182000	0.23217	0.559000	0.23485	0.587000	0.29643	0.561000	0.74099	TCA	KIAA0754	-	NULL	ENSG00000255103		0.443	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1		0	33	0	C	NM_015038		39878348	1			no_errors	ENST00000530275	ensembl	human	known	74_37	nonsense	15.38	11	2	SNP	0.001	A	A	39878348	C	A	39878348	4	1	4	1	0	0	0	0	0	1	0	0	8219	838	29	3	2413	3	KIAA0754	1	39878348	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	12141929	39878348	209372273	2	913											
KDM4A	9682	genome.wustl.edu	37	chr1	44137265	44137265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaacaagcagcagctGccttggatctttctgtgaat	12	10	11	8	0	2	2	0	1	2	1	2	4	2	4	1	2	5	3	1	2	4	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:44137265G>A	ENST00000372396.3	+	11	1587	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	485					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGCAGCAGCTGCCTTGGATCT	0.463																																																	0													97	97	97					1																	44137265		2203	4300	6503	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1453G>A	1.37:g.44137265G>A	ENSP00000361473:p.Ala485Thr		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.A485T	ENST00000372396.3	37	c.1453	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512954	0.44660	.	.	ENSG00000066135	ENST00000372396	T	0.15372	2.43	5.48	5.48	0.80851	.	0.864020	0.10439	N	0.674499	T	0.19087	0.0458	L	0.36672	1.1	0.34360	D	0.690812	B	0.20261	0.043	B	0.24974	0.057	T	0.17349	-1.0372	10	0.23302	T	0.38	-6.1841	17.9039	0.88913	0.0:0.0:1.0:0.0	.	485	O75164	KDM4A_HUMAN	T	485	ENSP00000361473:A485T	ENSP00000361473:A485T	A	+	1	0	KDM4A	43909852	0.897000	0.30589	0.742000	0.31022	0.770000	0.43624	6.743000	0.74848	2.729000	0.93468	0.650000	0.86243	GCC	KDM4A	-	NULL	ENSG00000066135		0.463	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0	62	0	G	NM_014663		44137265	1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	51.61	15	16	SNP	0.824	A	A	44137265	G	A	44137265	3	1	4	1	0	0	0	0	1	0	0	0	8155	1319	46	3	1491	3	KDM4A	1	44137265	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4258917	44137265	205113356	3	914											
DMAP1	55929	genome.wustl.edu	37	chr1	44680454	44680454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgggctccaagaaggtgCggccttggaagtggatgcca	9	8	16	8	1	0	1	0	0	0	1	1	3	1	3	3	5	2	2	3	5	3	2	rs34697342	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:44680454C>T	ENST00000372289.2	+	3	540	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	DMAP1_ENST00000361745.6_Missense_Mutation_p.R93W|DMAP1_ENST00000315913.5_Missense_Mutation_p.R93W	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	93					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)	p.R93W(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CAAGAAGGTGCGGCCTTGGAA	0.612																																																	1	Substitution - Missense(1)	prostate(1)											91	80	84					1																	44680454		2203	4300	6503	SO:0001583	missense	0			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.277C>T	1.37:g.44680454C>T	ENSP00000361363:p.Arg93Trp		A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.R93W	ENST00000372289.2	37	c.277	CCDS509.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643884	0.87859	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.46	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.89785	3.06	0.80722	D	1	D;D;D;D;P;D	0.64830	0.994;0.983;0.986;0.961;0.932;0.989	P;P;P;B;B;P	0.56163	0.793;0.724;0.534;0.411;0.44;0.793	T	0.62501	-0.6841	10	0.72032	D	0.01	-13.1551	13.9599	0.64172	0.3292:0.6708:0.0:0.0	.	93;93;93;93;119;93	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	W	93;93;119;93;119;119;93;93;64	ENSP00000354697:R93W;ENSP00000409200:R93W;ENSP00000401099:R93W;ENSP00000400269:R119W;ENSP00000402494:R119W;ENSP00000312697:R93W;ENSP00000361363:R93W;ENSP00000361364:R64W	ENSP00000312697:R93W	R	+	1	2	DMAP1	44453041	0.999000	0.42202	0.996000	0.52242	0.999000	0.98932	3.756000	0.55205	0.545000	0.28902	0.655000	0.94253	CGG	DMAP1	-	NULL	ENSG00000178028		0.612	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3		0	59	0	C	NM_019100		44680454	1			no_errors	ENST00000315913	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.999	T	T	44680454	C	T	44680454	3	4	4	1	0	0	0	0	1	0	0	0	4590	759	27	1	287	1	DMAP1	1	44680454	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	543189	44680454	204570167	4	915											
IPP	3652	genome.wustl.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-																															aaagcatagatagccccataAcacacacacactcctaagcc																								rs144663569		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs		A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C388fs	ENST00000396478.3	37	c.1164_1163	CCDS30702.1	1																																																																																			IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3		0	41	0	AC	NM_005897		46184898	-1	tier1		no_errors	ENST00000396478	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000:1.000	-	-	46184898	AC	-	46184897	7	5	4	1	0	1	0	1	0	0	0	0	7827	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-2H-A9GI-01A-11D-A37C-09	1504443	46184897	203065724	5	916											
FGGY	55277	genome.wustl.edu	37	chr1	59787277	59787277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgtggacgttggaaCaggcagtgtccgtgcagctc	6	10	17	8	2	0	0	0	0	0	0	2	2	1	2	1	4	3	4	1	4	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:59787277C>T	ENST00000303721.7	+	2	230	c.56C>T	c.(55-57)aCa>aTa	p.T19I	FGGY_ENST00000371218.4_Missense_Mutation_p.T19I|FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Missense_Mutation_p.T19I	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	19					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GACGTTGGAACAGGCAGTGTC	0.502																																																	0													88	83	85					1																	59787277		1568	3582	5150	SO:0001583	missense	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.56C>T	1.37:g.59787277C>T	ENSP00000305922:p.Thr19Ile		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.T19I	ENST00000303721.7	37	c.56	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797236	0.90538	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.2	5.2	0.72013	Carbohydrate kinase, FGGY, N-terminal (1);	0.139715	0.46442	D	0.000298	D	0.92172	0.7518	H	0.96460	3.825	0.80722	D	1	D;D;D;D	0.89917	0.999;0.991;1.0;1.0	D;P;D;D	0.79784	0.988;0.898;0.991;0.993	D	0.94302	0.7538	9	.	.	.	-15.4734	18.9316	0.92568	0.0:1.0:0.0:0.0	.	19;19;19;19	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	I	19	ENSP00000406607:T19I;ENSP00000360262:T19I;ENSP00000305922:T19I;ENSP00000360256:T19I	.	T	+	2	0	FGGY	59559865	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	5.169000	0.64984	2.691000	0.91804	0.655000	0.94253	ACA	FGGY	-	pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.502	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	-	0	65	0	C	NM_001113411		59787277	1	tier1	-	no_errors	ENST00000303721	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	59787277	C	T	59787277	3	4	4	1	0	0	0	0	1	0	0	0	5893	478	17	3	58	3	FGGY	1	59787277	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	13602380	59787277	189463344	6	917											
DNTTIP2	30836	genome.wustl.edu	37	chr1	94343366	94343366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagcagtagttcgggcaTcagatccagtactactttct	10	13	8	10	1	3	1	2	0	1	1	5	1	4	1	1	1	3	5	1	1	3	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:94343366T>C	ENST00000436063.2	-	2	182	c.125A>G	c.(124-126)gAt>gGt	p.D42G	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AGTTCGGGCATCAGATCCAGT	0.448																																																	0													60	56	57					1																	94343366		1885	4117	6002	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.125A>G	1.37:g.94343366T>C	ENSP00000411010:p.Asp42Gly		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.D42G	ENST00000436063.2	37	c.125	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.433221	0.43224	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.25579	1.79	4.93	1.31	0.21738	.	3.379890	0.00870	N	0.002010	T	0.04815	0.0130	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.17048	-1.0382	10	0.11485	T	0.65	.	4.0523	0.09801	0.1646:0.1537:0.0:0.6817	.	42	Q5QJE6	TDIF2_HUMAN	G	42;49	ENSP00000411010:D42G	ENSP00000352137:D42G	D	-	2	0	DNTTIP2	94115954	0.001000	0.12720	0.000000	0.03702	0.060000	0.15804	0.644000	0.24766	0.119000	0.18210	0.524000	0.50904	GAT	DNTTIP2	-	NULL	ENSG00000067334		0.448	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2	-	0	44	0	T	NM_014597		94343366	-1	tier1	-	no_errors	ENST00000436063	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	C	C	94343366	T	C	94343366	3	2	4	1	0	0	0	0	1	0	0	0	4696	1435	50	4	2169	4	DNTTIP2	1	94343366	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	34556089	94343366	154907255	7	918											
AMPD1	270	genome.wustl.edu	37	chr1	115229428	115229428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcacggtctggtaggttgGagatgaggaaatgtattcat	11	11	15	4	1	2	2	1	1	1	1	2	4	2	3	0	6	0	4	0	6	3	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:115229428G>T	ENST00000520113.2	-	4	433	c.418C>A	c.(418-420)Cca>Aca	p.P140T	AMPD1_ENST00000369538.3_Missense_Mutation_p.P136T|AMPD1_ENST00000353928.6_Missense_Mutation_p.P107T			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	140					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGTAGGTTGGAGATGAGGAA	0.463																																																	0													207	187	194					1																	115229428		2203	4300	6503	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.418C>A	1.37:g.115229428G>T	ENSP00000430075:p.Pro140Thr		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.P140T	ENST00000520113.2	37	c.418	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749172	0.49257	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.37752	1.18;1.18;1.18	5.32	4.38	0.52667	.	0.165143	0.56097	D	0.000040	T	0.25082	0.0609	M	0.80183	2.485	0.58432	D	0.999993	B;B	0.18968	0.032;0.001	B;B	0.17433	0.018;0.008	T	0.11275	-1.0594	10	0.37606	T	0.19	-3.3769	11.5027	0.50448	0.0:0.1358:0.7231:0.1411	.	136;107	Q5TF02;P23109	.;AMPD1_HUMAN	T	140;136;107	ENSP00000430075:P140T;ENSP00000358551:P136T;ENSP00000316520:P107T	ENSP00000316520:P107T	P	-	1	0	AMPD1	115030951	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.991000	0.49409	1.206000	0.43276	0.563000	0.77884	CCA	AMPD1	-	pirsf_AMP_deaminase	ENSG00000116748		0.463	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4		0	90	0	G			115229428	-1			no_errors	ENST00000520113	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	115229428	G	T	115229428	3	4	4	1	0	0	0	0	1	0	0	0	585	1174	41	3	1976	3	AMPD1	1	115229428	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	20886062	115229428	134021193	8	919											
ATP1A1	476	genome.wustl.edu	37	chr1	116944182	116944182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttgattttaggaacaaGatcttgatatttggcctctt	10	18	7	6	0	2	3	0	2	2	1	2	4	2	4	1	2	2	0	1	2	5	8			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:116944182G>T	ENST00000295598.5	+	21	3108	c.2856G>T	c.(2854-2856)aaG>aaT	p.K952N	ATP1A1_ENST00000537345.1_Missense_Mutation_p.K952N|ATP1A1_ENST00000369496.4_Missense_Mutation_p.K921N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	952					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTAGGAACAAGATCTTGATAT	0.393																																																	0													274	285	282					1																	116944182		2203	4300	6503	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2856G>T	1.37:g.116944182G>T	ENSP00000295598:p.Lys952Asn		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K952N	ENST00000295598.5	37	c.2856	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766515	0.49574	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.62	4.71	0.59529	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89280	0.6670	L	0.39085	1.19	0.80722	D	1	B;B	0.13594	0.003;0.008	B;B	0.17433	0.01;0.018	D	0.86832	0.2011	10	0.45353	T	0.12	.	10.3216	0.43769	0.1519:0.0:0.8481:0.0	.	952;952	F5H3A1;P05023	.;AT1A1_HUMAN	N	952;121;952;921;119	ENSP00000295598:K952N;ENSP00000445306:K952N;ENSP00000358508:K921N;ENSP00000396236:K119N	ENSP00000295598:K952N	K	+	3	2	ATP1A1	116745705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.314000	0.43743	1.359000	0.45940	0.591000	0.81541	AAG	ATP1A1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000163399		0.393	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0	77	0	G	NM_001160233		116944182	1			no_errors	ENST00000295598	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	116944182	G	T	116944182	3	4	4	1	0	0	0	0	1	0	0	0	1129	933	33	3	2954	3	ATP1A1	1	116944182	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	1714754	116944182	132306439	9	920											
ZBTB7B	51043	genome.wustl.edu	37	chr1	154987712	154987712	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccacctccgccaccGccacctcggcctgttgcccg	4	6	7	24	4	0	0	0	0	0	0	3	0	2	0	10	1	1	1	10	1	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:154987712G>T	ENST00000368426.3	+	3	713	c.576G>T	c.(574-576)ccG>ccT	p.P192P	ZBTB7B_ENST00000535420.1_Silent_p.P192P|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Silent_p.P226P|ZBTB7B_ENST00000292176.2_Silent_p.P192P	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	192	Pro-rich.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P192P(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCGCCACCGCCACCTCGGC	0.657																																																	1	Substitution - coding silent(1)	lung(1)											33	36	35					1																	154987712		2200	4295	6495	SO:0001819	synonymous_variant	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.576G>T	1.37:g.154987712G>T			B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P226	ENST00000368426.3	37	c.678	CCDS1081.1	1																																																																																			ZBTB7B	-	NULL	ENSG00000160685		0.657	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1		0	49	0	G	NM_015872		154987712	1			no_errors	ENST00000417934	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.046	T	T	154987712	G	T	154987712	2	4	4	1	0	0	0	0	0	0	0	1	17602	1074	38	2		2	ZBTB7B	1	154987712	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	38043530	154987712	94262909	10	921											
GON4L	54856	genome.wustl.edu	37	chr1	155734857	155734857	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttcatcttcctcatcttgGgtgaggtcatcaaagtcctc	8	15	7	11	0	6	1	4	1	2	0	9	1	8	1	2	2	0	0	2	2	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:155734857G>T	ENST00000368331.1	-	21	4455	c.4407C>A	c.(4405-4407)acC>acA	p.T1469T	GON4L_ENST00000361040.5_Silent_p.T1469T|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.T1469T|GON4L_ENST00000271883.5_Silent_p.T1469T	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1469	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCTCATCTTGGGTGAGGTCAT	0.483																																																	0													98	94	95					1																	155734857		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4407C>A	1.37:g.155734857G>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.T1469	ENST00000368331.1	37	c.4407		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	82	0	G	NM_032292		155734857	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	155734857	G	T	155734857	2	4	4	1	0	0	0	0	0	0	0	1	6598	1219	43	3		3	GON4L	1	155734857	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	747145	155734857	93515764	11	922											
OR10J1	26476	genome.wustl.edu	37	chr1	159409982	159409982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccccctgagatacatggTtattatgaacaagaggctgc	13	9	9	10	0	0	3	0	2	0	2	0	4	0	3	2	2	4	2	2	2	6	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:159409982T>G	ENST00000423932.3	+	1	471	c.434T>G	c.(433-435)gTt>gGt	p.V145G	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	145					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGATACATGGTTATTATGAAC	0.473																																																	0													119	113	115					1																	159409982		2203	4300	6503	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.434T>G	1.37:g.159409982T>G	ENSP00000399078:p.Val145Gly		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V145G	ENST00000423932.3	37	c.434	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	T	7.084	0.570773	0.13560	.	.	ENSG00000196184	ENST00000423932	T	0.01397	4.94	4.58	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.683858	0.11949	N	0.513849	T	0.01489	0.0048	M	0.81942	2.565	0.09310	N	0.999999	B	0.34214	0.442	B	0.42462	0.388	T	0.44967	-0.9293	10	0.87932	D	0	.	6.2512	0.20848	0.0:0.1953:0.0:0.8047	.	145	P30954	O10J1_HUMAN	G	145	ENSP00000399078:V145G	ENSP00000399078:V145G	V	+	2	0	OR10J1	157676606	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.034000	0.12225	0.869000	0.35703	-0.274000	0.10170	GTT	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196184		0.473	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0	80	0	T	NM_012351		159409982	1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	missense	22.89	64	19	SNP	0.000	G	G	159409982	T	G	159409982	3	3	4	1	0	0	0	0	1	0	0	0	10949	1725	60	4	436	4	OR10J1	1	159409982	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	3675125	159409982	89840639	12	923											
ILDR2	387597	genome.wustl.edu	37	chr1	166908781	166908781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccacagcaaaactgggcaAgagatcagcaagcagccctg	14	4	10	13	0	1	1	1	0	0	1	2	2	2	1	2	1	5	4	2	1	4	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:166908781A>T	ENST00000271417.3	-	4	581	c.526T>A	c.(526-528)Ttg>Atg	p.L176M	ILDR2_ENST00000528703.1_Missense_Mutation_p.L176M|ILDR2_ENST00000526687.1_Missense_Mutation_p.L176M|ILDR2_ENST00000529071.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.L176M	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	176					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAACTGGGCAAGAGATCAGCA	0.438																																																	0													107	92	97					1																	166908781		2203	4300	6503	SO:0001583	missense	0			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.526T>A	1.37:g.166908781A>T	ENSP00000271417:p.Leu176Met			Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.L176M	ENST00000271417.3	37	c.526	CCDS1256.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.469963	0.84533	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000526687;ENST00000528703	T;T;D;T	0.85861	-0.29;-0.13;-2.04;-0.62	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	D	0.89966	0.6868	M	0.62723	1.935	0.44085	D	0.996845	D	0.89917	1.0	D	0.87578	0.998	D	0.91154	0.4955	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	176	Q71H61	ILDR2_HUMAN	M	176	ENSP00000271417:L176M;ENSP00000437008:L176M;ENSP00000434273:L176M;ENSP00000432750:L176M	ENSP00000271417:L176M	L	-	1	2	ILDR2	165175405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.424000	0.73366	2.326000	0.78906	0.533000	0.62120	TTG	ILDR2	-	NULL	ENSG00000143195		0.438	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILDR2	HGNC	protein_coding	OTTHUMT00000082880.2	-	0	62	0	A	NM_199351		166908781	-1	tier1	-	no_errors	ENST00000271417	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	166908781	A	T	166908781	3	4	4	1	0	0	0	0	1	0	0	0	7737	69	3	5	1421	5	ILDR2	1	166908781	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	7498799	166908781	82341840	13	924											
POU2F1	5451	genome.wustl.edu	37	chr1	167343365	167343365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttactttgacgcctgcccaGcaacagttactactccagca	10	10	6	15	1	0	1	0	1	0	0	1	1	1	1	3	0	7	3	3	0	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:167343365G>T	ENST00000541643.3	+	7	516	c.354G>T	c.(352-354)caG>caT	p.Q118H	POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000367862.5_Missense_Mutation_p.Q130H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.Q141H|POU2F1_ENST00000452019.1_Missense_Mutation_p.Q118H|POU2F1_ENST00000420254.3_Missense_Mutation_p.Q118H			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	118					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CGCCTGCCCAGCAACAGTTAC	0.522																																																	0													62	56	58					1																	167343365		2203	4300	6503	SO:0001583	missense	0			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.354G>T	1.37:g.167343365G>T	ENSP00000441285:p.Gln118His		B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.Q141H	ENST00000541643.3	37	c.423		1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403953	0.25291	.	.	ENSG00000143190	ENST00000367866;ENST00000452019;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.81	3.95	0.45737	.	0.959185	0.08731	N	0.902089	T	0.73806	0.3634	L	0.57536	1.79	0.53005	D	0.999967	P;D;D;P	0.55605	0.924;0.972;0.972;0.875	P;P;P;B	0.52217	0.46;0.46;0.693;0.271	T	0.69844	-0.5035	10	0.87932	D	0	.	9.8314	0.40944	0.2083:0.0:0.7917:0.0	.	118;130;116;118	P14859-4;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	H	141;118;116;118;118;130;26	ENSP00000356840:Q141H;ENSP00000391523:Q118H;ENSP00000356839:Q116H;ENSP00000414660:Q118H;ENSP00000441285:Q118H;ENSP00000356836:Q130H;ENSP00000415993:Q26H	ENSP00000356836:Q130H	Q	+	3	2	POU2F1	165609989	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	3.816000	0.55658	0.805000	0.34159	-0.140000	0.14226	CAG	POU2F1	-	NULL	ENSG00000143190		0.522	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding			0	70	0	G	NM_002697		167343365	1			no_errors	ENST00000367866	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	167343365	G	T	167343365	3	4	4	1	0	0	0	0	1	0	0	0	12310	962	34	3	372	3	POU2F1	1	167343365	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	434584	167343365	81907256	14	925											
NME7	29922	genome.wustl.edu	37	chr1	169199982	169199982	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtccacaaaattctcGaaatgtctttgtagcattat	13	13	7	8	1	2	0	0	0	2	0	4	1	3	0	1	1	2	3	1	1	5	4	rs138530600		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:169199982G>T	ENST00000367811.3	-	10	1220	c.964C>A	c.(964-966)Cga>Aga	p.R322R	NME7_ENST00000472647.1_Silent_p.R286R	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	322					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					CAAAATTCTCGAAATGTCTTT	0.313																																																	0													81	75	77					1																	169199982		2203	4299	6502	SO:0001819	synonymous_variant	0			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.964C>A	1.37:g.169199982G>T			A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Silent	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.R322	ENST00000367811.3	37	c.964	CCDS1277.1	1																																																																																			NME7	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7	ENSG00000143156		0.313	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1		0	38	0	G	NM_013330		169199982	-1			no_errors	ENST00000367811	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.999	T	T	169199982	G	T	169199982	2	4	4	1	0	0	0	0	0	0	0	1	10535	1066	37	2		2	NME7	1	169199982	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	1856617	169199982	80050639	15	926											
FMO4	2329	genome.wustl.edu	37	chr1	171303708	171303708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgtgatcttcactacagGatatacattttcttttccat	9	19	5	8	0	3	1	1	1	2	0	4	2	4	2	1	1	2	1	1	1	3	9			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:171303708G>T	ENST00000367749.3	+	8	1316	c.986G>T	c.(985-987)gGa>gTa	p.G329V		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	329					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTCACTACAGGATATACATTT	0.353																																					Pancreas(24;816 862 7754 7993 32832)												0													94	97	96					1																	171303708		2203	4300	6503	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.986G>T	1.37:g.171303708G>T	ENSP00000356723:p.Gly329Val		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.G329V	ENST00000367749.3	37	c.986	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691831	0.88735	.	.	ENSG00000076258	ENST00000367749	D	0.85955	-2.05	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96658	0.9487	10	0.87932	D	0	-17.5435	19.2618	0.93971	0.0:0.0:1.0:0.0	.	329	P31512	FMO4_HUMAN	V	329	ENSP00000356723:G329V	ENSP00000356723:G329V	G	+	2	0	FMO4	169570332	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.683000	0.98657	2.632000	0.89209	0.650000	0.86243	GGA	FMO4	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000076258		0.353	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1		0	79	0	G	NM_002022		171303708	1			no_errors	ENST00000367749	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	171303708	G	T	171303708	3	4	4	1	0	0	0	0	1	0	0	0	5979	1174	41	3	1008	3	FMO4	1	171303708	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	2103726	171303708	77946913	16	927											
KIF21B	23046	genome.wustl.edu	37	chr1	200946364	200946364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagctcccagatgcggacgGcattgcccgaggcggcgtac	8	6	14	13	5	0	1	0	0	0	1	1	3	1	2	2	4	4	3	2	4	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:200946364G>A	ENST00000422435.2	-	31	4617	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	KIF21B_ENST00000332129.2_Missense_Mutation_p.A1421V|KIF21B_ENST00000360529.5_Missense_Mutation_p.A1421V|KIF21B_ENST00000461742.2_Missense_Mutation_p.A1434V	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1434					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1421V(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GATGCGGACGGCATTGCCCGA	0.632																																																	1	Substitution - Missense(1)	lung(1)											123	114	117					1																	200946364		2203	4300	6503	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4301C>T	1.37:g.200946364G>A	ENSP00000411831:p.Ala1434Val		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.A1434V	ENST00000422435.2	37	c.4301	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027513	0.35797	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	4.88	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.198864	0.43579	D	0.000543	T	0.08044	0.0201	L	0.44542	1.39	0.29008	N	0.887052	B;B;B;B	0.31459	0.193;0.193;0.324;0.161	B;B;B;B	0.27715	0.082;0.082;0.082;0.049	T	0.07271	-1.0781	10	0.37606	T	0.19	.	18.0342	0.89294	0.0:0.0:1.0:0.0	.	1421;1434;1434;1421	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	V	1421;1421;1434;1434;1434	ENSP00000328494:A1421V;ENSP00000353724:A1421V;ENSP00000433808:A1434V;ENSP00000411831:A1434V	ENSP00000328494:A1421V	A	-	2	0	KIF21B	199212987	0.998000	0.40836	0.965000	0.40720	0.006000	0.05464	5.027000	0.64109	2.249000	0.74217	0.561000	0.74099	GCC	KIF21B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000116852		0.632	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1		0	44	0	G	XM_371332		200946364	-1			no_errors	ENST00000422435	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.986	A	A	200946364	G	A	200946364	3	1	4	1	0	0	0	0	1	0	0	0	8316	1203	42	3	632	3	KIF21B	1	200946364	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	29642656	200946364	48304257	17	928											
CENPF	1063	genome.wustl.edu	37	chr1	214803990	214803990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatgcacaacgtcctgcaGgctgaactggataaagtagg	14	8	11	8	1	0	1	0	1	0	0	1	2	1	2	1	3	4	4	1	3	7	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:214803990G>T	ENST00000366955.3	+	9	1476	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACGTCCTGCAGGCTGAACTGG	0.478																																					Colon(80;575 1284 11000 14801 43496)												0													145	133	137					1																	214803990		2203	4300	6503	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1308G>T	1.37:g.214803990G>T	ENSP00000355922:p.Gln436His		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.Q436H	ENST00000366955.3	37	c.1308	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376884	0.61735	.	.	ENSG00000117724	ENST00000366955	T	0.79749	-1.3	5.18	4.25	0.50352	.	0.000000	0.36134	N	0.002771	D	0.87063	0.6084	.	.	.	0.40427	D	0.979905	D	0.89917	1.0	D	0.70487	0.969	D	0.87668	0.2539	9	0.66056	D	0.02	.	9.4897	0.38951	0.2107:0.0:0.7893:0.0	.	436	P49454	CENPF_HUMAN	H	436	ENSP00000355922:Q436H	ENSP00000355922:Q436H	Q	+	3	2	CENPF	212870613	1.000000	0.71417	0.965000	0.40720	0.921000	0.55340	3.451000	0.52964	2.572000	0.86782	0.655000	0.94253	CAG	CENPF	-	NULL	ENSG00000117724		0.478	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1		0	32	0	G	NM_016343		214803990	1			no_errors	ENST00000366955	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.999	T	T	214803990	G	T	214803990	3	4	4	1	0	0	0	0	1	0	0	0	3238	991	35	3	1338	3	CENPF	1	214803990	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	13857626	214803990	34446631	18	929											
FMN2	56776	genome.wustl.edu	37	chr1	240601495	240601495	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaagaaagagaacaaacTtcttctacaagagaggtagg	17	7	11	6	0	2	3	0	0	2	3	2	6	2	4	0	3	3	1	0	3	7	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:240601495T>G	ENST00000319653.9	+	16	5275	c.5045T>G	c.(5044-5046)cTt>cGt	p.L1682R	FMN2_ENST00000545751.1_Missense_Mutation_p.L278R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1682	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGAACAAACTTCTTCTACAA	0.408																																																	0													108	107	107					1																	240601495		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5045T>G	1.37:g.240601495T>G	ENSP00000318884:p.Leu1682Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.L1682R	ENST00000319653.9	37	c.5045	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.781531	0.31502	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.39592	1.07;1.07	5.91	4.76	0.60689	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.000000	0.53938	D	0.000042	T	0.41558	0.1164	N	0.16478	0.41	0.80722	D	1	P;D;B	0.69078	0.93;0.997;0.128	P;D;B	0.63597	0.564;0.916;0.049	T	0.15694	-1.0428	10	0.12430	T	0.62	.	12.3508	0.55146	0.1266:0.0:0.0:0.8734	.	278;311;1682	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	R	1682;278;309;158	ENSP00000318884:L1682R;ENSP00000437918:L278R	ENSP00000318884:L1682R	L	+	2	0	FMN2	238668118	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.374000	0.44274	1.026000	0.39733	0.472000	0.43445	CTT	FMN2	-	smart_FH2_Formin	ENSG00000155816		0.408	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	50	0	T	XM_371352		240601495	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	45.31	35	29	SNP	1.000	G	G	240601495	T	G	240601495	3	3	4	1	0	0	0	0	1	0	0	0	5972	1609	56	4	5107	4	FMN2	1	240601495	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	25797505	240601495	8649126	19	930											
OR6F1	343169	genome.wustl.edu	37	chr1	247875936	247875936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatcaagatagccacattaCcactaactgtgaggatgtac	15	9	7	10	0	1	2	1	1	0	1	1	3	1	3	2	1	4	1	2	1	5	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:247875936C>T	ENST00000302084.2	-	1	169	c.122G>A	c.(121-123)gGt>gAt	p.G41D	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCCACATTACCACTAACTGT	0.468																																																	0													146	142	144					1																	247875936		2203	4300	6503	SO:0001583	missense	0			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.122G>A	1.37:g.247875936C>T	ENSP00000305640:p.Gly41Asp		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41D	ENST00000302084.2	37	c.122	CCDS31095.1	1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254754	0.39896	.	.	ENSG00000169214	ENST00000302084	T	0.04360	3.64	3.99	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000430	T	0.27832	0.0685	H	0.94264	3.515	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.16571	-1.0398	10	0.87932	D	0	-22.0627	10.7886	0.46419	0.0:0.904:0.0:0.096	.	41	Q8NGZ6	OR6F1_HUMAN	D	41	ENSP00000305640:G41D	ENSP00000305640:G41D	G	-	2	0	OR6F1	245942559	0.001000	0.12720	0.012000	0.15200	0.010000	0.07245	0.630000	0.24553	1.013000	0.39391	0.591000	0.81541	GGT	OR6F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169214		0.468	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	-	0	37	0	C	NM_001005286		247875936	-1	tier1	-	no_errors	ENST00000302084	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.002	T	T	247875936	C	T	247875936	3	4	4	1	0	0	0	0	1	0	0	0	11240	507	18	3	808	3	OR6F1	1	247875936	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	7274441	247875936	1374685	20	931											
OR2T12	127064	genome.wustl.edu	37	chr1	248458213	248458213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtagagcgcatgagcagaAcagcagcgaggatgagacca	14	4	14	9	2	0	4	0	2	0	3	0	7	0	5	1	1	5	4	1	1	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr1:248458213A>C	ENST00000317996.1	-	1	667	c.668T>G	c.(667-669)gTt>gGt	p.V223G		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V223A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CATGAGCAGAACAGCAGCGAG	0.517																																																	1	Substitution - Missense(1)	endometrium(1)											133	117	122					1																	248458213		2203	4300	6503	SO:0001583	missense	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.668T>G	1.37:g.248458213A>C	ENSP00000324583:p.Val223Gly			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V223G	ENST00000317996.1	37	c.668	CCDS31110.1	1	.	.	.	.	.	.	.	.	.	.	a	11.81	1.748900	0.30955	.	.	ENSG00000177201	ENST00000317996	T	0.00327	8.09	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32068	U	0.006621	T	0.01222	0.0040	H	0.97829	4.085	0.22240	N	0.999265	D	0.76494	0.999	D	0.79108	0.992	T	0.25433	-1.0132	10	0.87932	D	0	.	8.3975	0.32566	1.0:0.0:0.0:0.0	.	223	Q8NG77	O2T12_HUMAN	G	223	ENSP00000324583:V223G	ENSP00000324583:V223G	V	-	2	0	OR2T12	246524836	0.000000	0.05858	0.023000	0.16930	0.143000	0.21401	0.392000	0.20801	0.540000	0.28808	0.147000	0.16070	GTT	OR2T12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177201		0.517	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	-	0	133	0	A	NM_001004692		248458213	-1	tier1	-	no_errors	ENST00000317996	ensembl	human	known	74_37	missense	29.09	78	32	SNP	0.064	C	C	248458213	A	C	248458213	3	2	4	1	0	0	0	0	1	0	0	0	11058	43	2	4	297	4	OR2T12	1	248458213	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	582277	248458213	792408	21	932											
SNTG2	54221	genome.wustl.edu	37	chr2	1271173	1271173	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgctggttgcaagcaaacTtgtatctgggtcttcaagat	10	13	10	8	0	3	1	1	0	2	1	3	1	3	1	0	2	4	5	0	2	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:1271173T>C	ENST00000308624.5	+	14	1243	c.1114T>C	c.(1114-1116)Ttg>Ctg	p.L372L	SNTG2_ENST00000407292.1_Silent_p.L245L	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	372	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCAAGCAAACTTGTATCTGGG	0.522																																																	0													60	58	58					2																	1271173		1941	4147	6088	SO:0001819	synonymous_variant	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1114T>C	2.37:g.1271173T>C			Q05AH5	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L372	ENST00000308624.5	37	c.1114	CCDS46220.1	2																																																																																			SNTG2	-	NULL	ENSG00000172554		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	77	0	T	NM_018968		1271173	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.938	C	C	1271173	T	C	1271173	2	2	4	1	0	0	0	0	0	0	0	1	14920	1606	56	4		4	SNTG2	2	1271173	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09		1271173	241928200	22	933											
CPSF3	51692	genome.wustl.edu	37	chr2	9583646	9583646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttattttccacagcaCatcatgtctgaacctgaaga	11	15	5	10	0	3	3	1	2	2	1	4	3	4	3	2	0	2	1	2	0	3	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:9583646C>G	ENST00000238112.3	+	10	1304	c.1098C>G	c.(1096-1098)caC>caG	p.H366Q	CPSF3_ENST00000460593.1_Missense_Mutation_p.H329Q	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	366					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTCCACAGCACATCATGTCTG	0.328																																					Colon(194;1259 2048 3845 5218 19985)												0													123	124	124					2																	9583646		2203	4300	6503	SO:0001583	missense	0			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"cleavage and polyadenylation specific factor 3, 73kD subunit"			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1098C>G	2.37:g.9583646C>G	ENSP00000238112:p.His366Gln		O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	pfam_CPSF73-100_C,pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.H366Q	ENST00000238112.3	37	c.1098	CCDS1664.1	2	.	.	.	.	.	.	.	.	.	.	C	2.729	-0.264943	0.05754	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	T;T	0.38887	1.11;1.11	5.18	-4.6	0.03390	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	N	0.11201	0.11	0.58432	D	0.999998	B	0.02656	0.0	B	0.10450	0.005	T	0.18587	-1.0332	10	0.11485	T	0.65	-12.7937	15.6873	0.77421	0.0:0.6655:0.0:0.3345	.	366	Q9UKF6	CPSF3_HUMAN	Q	366;88;329	ENSP00000238112:H366Q;ENSP00000418957:H329Q	ENSP00000238112:H366Q	H	+	3	2	CPSF3	9501097	0.998000	0.40836	0.960000	0.40013	0.784000	0.44337	0.555000	0.23422	-0.913000	0.03832	-0.377000	0.06932	CAC	CPSF3	-	pfam_Beta_Casp	ENSG00000119203		0.328	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	HGNC	protein_coding	OTTHUMT00000206843.1	-	0	68	0	C	NM_016207		9583646	1	tier1	-	no_errors	ENST00000238112	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.987	G	G	9583646	C	G	9583646	3	3	4	1	0	0	0	0	1	0	0	0	3833	477	17	5	1136	5	CPSF3	2	9583646	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	8312473	9583646	233615727	23	934											
NBAS	51594	genome.wustl.edu	37	chr2	15358907	15358907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcccttacctgtctctggGgccaggaggctttgagaatg	7	11	12	11	0	1	1	0	1	1	1	3	3	2	2	3	4	1	1	3	4	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:15358907G>A	ENST00000281513.5	-	48	6447	c.6422C>T	c.(6421-6423)cCc>cTc	p.P2141L	NBAS_ENST00000441750.1_Missense_Mutation_p.P2021L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2141					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGTCTCTGGGGCCAGGAGGC	0.493																																																	0													72	78	76					2																	15358907		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6422C>T	2.37:g.15358907G>A	ENSP00000281513:p.Pro2141Leu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.P2141L	ENST00000281513.5	37	c.6422	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.41|16.41	3.116293|3.116293	0.56505|0.56505	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|T	0.11930|0.20200	2.73;2.92|2.09	5.63|5.63	4.75|4.75	0.60458|0.60458	.|.	0.101195|0.101195	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.35998|0.35998	0.0951|0.0951	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;P|.	0.80764|.	0.994;0.907|.	T|T	0.05099|0.05099	-1.0906|-1.0906	10|8	0.87932|0.36615	D|T	0|0.2	.|.	14.9907|14.9907	0.71387|0.71387	0.0:0.0:0.8564:0.1436|0.0:0.0:0.8564:0.1436	.|.	2021;2141|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	L|S	2021;2141|1189	ENSP00000413201:P2021L;ENSP00000281513:P2141L|ENSP00000398411:P1189S	ENSP00000281513:P2141L|ENSP00000398411:P1189S	P|P	-|-	2|1	0|0	NBAS|NBAS	15276358|15276358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.356000|0.356000	0.29392|0.29392	5.877000|5.877000	0.69675|0.69675	1.354000|1.354000	0.45846|0.45846	-0.282000|-0.282000	0.10007|0.10007	CCC|CCC	NBAS	-	NULL	ENSG00000151779		0.493	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0	78	0	G	NM_015909		15358907	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	A	A	15358907	G	A	15358907	3	1	4	1	0	0	0	0	1	0	0	0	10224	1232	43	3	713	3	NBAS	2	15358907	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	5775261	15358907	227840466	24	935											
OSR1	130497	genome.wustl.edu	37	chr2	19552116	19552117	+	Frame_Shift_Ins	INS	-	-	GAAT																															gcgagagtcctggactggcaINSgaatcctttcccacactctt																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:19552116_19552117insGAAT	ENST00000272223.2	-	3	1064_1065	c.720_721insATTC	c.(718-723)ttctgcfs	p.C241fs	OSR1_ENST00000536433.1_Frame_Shift_Ins_p.C241fs	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	241					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTGGACTGGCAGAATCCTTTCC	0.46																																																	0																																										SO:0001589	frameshift_variant	0			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"Zinc fingers, C2H2-type"	8111	protein-coding gene	gene with protein product		608891	"odd-skipped (Drosophila) homolog", "odd-skipped related 1 (Drosophila)"	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.717_720dupATTC	2.37:g.19552117_19552120dupGAAT	ENSP00000272223:p.Cys241fs		B3KV97|D6W521	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C240fs	ENST00000272223.2	37	c.721_720	CCDS1694.1	2																																																																																			OSR1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143867		0.46	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2		0	31	0	-	NM_145260		19552117	-1	tier1		no_errors	ENST00000272223	ensembl	human	known	74_37	frame_shift_ins	12.20	36	5	INS	1.000:1.000	GAAT	GAAT	19552117	-	GAAT	19552116	7	5	4	1	0	1	1	0	0	0	0	0	11332	188	7	0	83	0	OSR1	2	19552116	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	4193209	19552116	223647257	25	936											
HADHB	3032	genome.wustl.edu	37	chr2	26502881	26502881	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaaagatacagttaccaaAgataatggcatccgtccttc	15	9	8	9	1	0	2	0	0	0	2	3	3	2	3	3	2	2	2	3	2	6	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:26502881A>G	ENST00000317799.5	+	10	935	c.831A>G	c.(829-831)aaA>aaG	p.K277K	HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Silent_p.K154K|HADHB_ENST00000545822.1_Silent_p.K255K|HADHB_ENST00000537713.1_Silent_p.K262K	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	277			K -> R (in dbSNP:rs57969630).		cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrial envelope (GO:0005740)|mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acyltransferase activity (GO:0003988)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTTACCAAAGATAATGGCA	0.368																																																	0													95	87	90					2																	26502881		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1722.1, CCDS62871.1, CCDS62872.1	2p23	2010-04-30	2010-04-30		ENSG00000138029	ENSG00000138029	2.3.1.16		4803	protein-coding gene	gene with protein product	"mitochondrial trifunctional protein, beta subunit"	143450	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit"			9605857	Standard	NM_000183		Approved	MTPB	uc002rgz.3	P55084	OTTHUMG00000096978	ENST00000317799.5:c.831A>G	2.37:g.26502881A>G			B2RB16|B4E2W0|O14969|Q53TA6|Q96C77|Q9H3F5|Q9T2V8	Silent	SNP	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase	p.K277	ENST00000317799.5	37	c.831	CCDS1722.1	2																																																																																			HADHB	-	pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase	ENSG00000138029		0.368	HADHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHB	HGNC	protein_coding	OTTHUMT00000214050.2	-	0	40	0	A	NM_000183		26502881	1	tier1	-	no_errors	ENST00000317799	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	G	G	26502881	A	G	26502881	2	3	4	1	0	0	0	0	0	0	0	1	6971	69	3	4		4	HADHB	2	26502881	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	6950765	26502881	216696492	26	937											
ALK	238	genome.wustl.edu	37	chr2	29420535	29420535	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcccatagcagcactcCaaaggacctgggcatgggac	11	7	11	12	0	0	0	0	0	0	0	2	3	2	2	3	3	2	3	3	3	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:29420535C>A	ENST00000389048.3	-	27	4852	c.3946G>T	c.(3946-3948)Gga>Tga	p.G1316*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGCAGCACTCCAAAGGACCTG	0.493			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													78	84	82					2																	29420535		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3946G>T	2.37:g.29420535C>A	ENSP00000373700:p.Gly1316*		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G1316*	ENST00000389048.3	37	c.3946	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	48	14.166717	0.99782	.	.	ENSG00000171094	ENST00000389048	.	.	.	5.8	5.8	0.92144	.	0.000000	0.46145	U	0.000315	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0464	0.97608	0.0:1.0:0.0:0.0	.	.	.	.	X	1316	.	.	G	-	1	0	ALK	29274039	1.000000	0.71417	0.994000	0.49952	0.149000	0.21700	7.818000	0.86416	2.729000	0.93468	0.561000	0.74099	GGA	ALK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000171094		0.493	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1		0	32	0	C	NM_004304		29420535	-1			no_errors	ENST00000389048	ensembl	human	known	74_37	nonsense	11.90	37	5	SNP	1.000	A	A	29420535	C	A	29420535	4	1	4	1	0	0	0	0	0	1	0	0	525	603	21	3	928	3	ALK	2	29420535	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	2917654	29420535	213778838	27	938											
ALK	238	genome.wustl.edu	37	chr2	29451833	29451833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtctcccacccccacttcTtcatggcctgggggcaggaa	6	10	10	15	0	3	0	1	0	2	0	4	1	3	1	4	4	0	1	4	4	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:29451833T>C	ENST00000389048.3	-	16	3638	c.2732A>G	c.(2731-2733)aAg>aGg	p.K911R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	911	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCCCCACTTCTTCATGGCCTG	0.587			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													29	29	29					2																	29451833		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2732A>G	2.37:g.29451833T>C	ENSP00000373700:p.Lys911Arg		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K911R	ENST00000389048.3	37	c.2732	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941436	0.53079	.	.	ENSG00000171094	ENST00000389048	T	0.46063	0.88	5.36	5.36	0.76844	.	0.000000	0.50627	D	0.000116	T	0.40619	0.1124	L	0.50333	1.59	0.80722	D	1	B	0.22276	0.067	B	0.28638	0.092	T	0.20140	-1.0284	9	.	.	.	.	15.3672	0.74531	0.0:0.0:0.0:1.0	.	911	Q9UM73	ALK_HUMAN	R	911	ENSP00000373700:K911R	.	K	-	2	0	ALK	29305337	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.588000	0.60999	2.030000	0.59900	0.459000	0.35465	AAG	ALK	-	NULL	ENSG00000171094		0.587	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0	107	0	T	NM_004304		29451833	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	22.78	61	18	SNP	1.000	C	C	29451833	T	C	29451833	3	2	4	1	0	0	0	0	1	0	0	0	525	1609	56	4	2186	4	ALK	2	29451833	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	31298	29451833	213747540	28	939											
EHD3	30845	genome.wustl.edu	37	chr2	31457626	31457626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcttccacgagttccacTcgcccgccctggaggatgcc	6	7	10	18	4	0	0	0	0	0	0	3	3	2	2	6	2	1	2	6	2	0	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:31457626T>C	ENST00000322054.5	+	1	424	c.139T>C	c.(139-141)Tcg>Ccg	p.S47P	EHD3_ENST00000541626.1_Missense_Mutation_p.S47P	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	47					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGAGTTCCACTCGCCCGCCCT	0.597																																																	0													107	101	103					2																	31457626		2203	4300	6503	SO:0001583	missense	0			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.139T>C	2.37:g.31457626T>C	ENSP00000327116:p.Ser47Pro		B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.S47P	ENST00000322054.5	37	c.139	CCDS1774.1	2	.	.	.	.	.	.	.	.	.	.	T	31	5.087142	0.94100	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	T;T	0.35236	1.32;2.03	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80984	-0.1138	10	0.87932	D	0	-9.8206	14.8641	0.70401	0.0:0.0:0.0:1.0	.	47;47	B4DFR5;Q9NZN3	.;EHD3_HUMAN	P	47	ENSP00000440685:S47P;ENSP00000327116:S47P	ENSP00000327116:S47P	S	+	1	0	EHD3	31311130	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.387000	0.79785	2.102000	0.63906	0.459000	0.35465	TCG	EHD3	-	superfamily_P-loop_NTPase	ENSG00000013016		0.597	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0	110	0	T	NM_014600		31457626	1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	C	C	31457626	T	C	31457626	3	2	4	1	0	0	0	0	1	0	0	0	4993	1551	54	4	141	4	EHD3	2	31457626	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	2005793	31457626	211741747	29	940											
XDH	7498	genome.wustl.edu	37	chr2	31598302	31598302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaggtagaacttgaagaAgaagctgagggtgagggtgc	12	8	17	4	0	1	6	1	3	0	3	1	6	1	6	0	3	3	2	0	3	5	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:31598302A>C	ENST00000379416.3	-	15	1594	c.1546T>G	c.(1546-1548)Ttc>Gtc	p.F516V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	516				FFF -> LLL (in Ref. 3; AAA75287). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AACTTGAAGAAGAAGCTGAGG	0.597																																					Colon(66;682 1445 30109 40147)												0													98	97	98					2																	31598302		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1546T>G	2.37:g.31598302A>C	ENSP00000368727:p.Phe516Val		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.F516V	ENST00000379416.3	37	c.1546	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	A	28.5	4.926717	0.92319	.	.	ENSG00000158125	ENST00000379416	T	0.28666	1.6	5.32	5.32	0.75619	Xanthine dehydrogenase, small subunit (1);CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69258	-0.5192	10	0.87932	D	0	.	14.9579	0.71131	1.0:0.0:0.0:0.0	.	516	P47989	XDH_HUMAN	V	516	ENSP00000368727:F516V	ENSP00000368727:F516V	F	-	1	0	XDH	31451806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.440000	0.80464	2.017000	0.59298	0.533000	0.62120	TTC	XDH	-	pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.597	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	47	0	A	NM_000379		31598302	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	C	C	31598302	A	C	31598302	3	2	4	1	0	0	0	0	1	0	0	0	17475	72	3	4	2543	4	XDH	2	31598302	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	140676	31598302	211601071	30	941											
PLEK	5341	genome.wustl.edu	37	chr2	68607874	68607874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgtgtttaagatcactaCgaccaaacagcaggaccact	13	10	8	10	1	1	1	1	0	0	1	1	3	1	2	2	1	3	3	2	1	3	4	rs200352669		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:68607874C>T	ENST00000234313.7	+	3	397	c.218C>T	c.(217-219)aCg>aTg	p.T73M		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	73	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AAGATCACTACGACCAAACAG	0.483																																																	0													126	125	125					2																	68607874		2203	4300	6503	SO:0001583	missense	0			X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"Pleckstrin homology (PH) domain containing"	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.218C>T	2.37:g.68607874C>T	ENSP00000234313:p.Thr73Met		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology	p.T73M	ENST00000234313.7	37	c.218	CCDS1887.1	2	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600473	0.66332	.	.	ENSG00000115956	ENST00000234313	T	0.16597	2.33	5.79	3.95	0.45737	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.181365	0.64402	D	0.000015	T	0.26484	0.0647	M	0.88377	2.95	0.50467	D	0.999875	P;B	0.35050	0.482;0.138	B;B	0.35353	0.201;0.175	T	0.11131	-1.0600	10	0.66056	D	0.02	.	9.2401	0.37491	0.0:0.7473:0.1251:0.1276	.	91;73	Q59GZ2;P08567	.;PLEK_HUMAN	M	73	ENSP00000234313:T73M	ENSP00000234313:T73M	T	+	2	0	PLEK	68461378	0.992000	0.36948	0.776000	0.31678	0.964000	0.63967	3.103000	0.50298	1.418000	0.47098	0.650000	0.86243	ACG	PLEK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115956		0.483	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEK	HGNC	protein_coding	OTTHUMT00000251755.1	-	0	43	0	C	NM_002664		68607874	1	tier1	rs200352669	no_errors	ENST00000234313	ensembl	human	known	74_37	missense	20.93	34	9	SNP	0.719	T	T	68607874	C	T	68607874	3	4	4	1	0	0	0	0	1	0	0	0	12092	536	19	1	228	1	PLEK	2	68607874	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	37009572	68607874	174591499	31	942											
CTNNA2	1496	genome.wustl.edu	37	chr2	80646693	80646693	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtgaaagaatatgcccaAgttttccgtgagcatgccaa	14	9	10	8	1	0	3	0	2	0	1	1	4	1	3	3	0	3	2	3	0	6	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:80646693A>G	ENST00000402739.4	+	8	1262	c.1257A>G	c.(1255-1257)caA>caG	p.Q419Q	CTNNA2_ENST00000343114.3_Silent_p.Q98Q|CTNNA2_ENST00000496558.1_Silent_p.Q419Q|CTNNA2_ENST00000541047.1_Silent_p.Q419Q|CTNNA2_ENST00000540488.1_Silent_p.Q419Q|CTNNA2_ENST00000466387.1_Silent_p.Q419Q|CTNNA2_ENST00000361291.4_Silent_p.Q453Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	419					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATATGCCCAAGTTTTCCGTG	0.443																																																	0													108	107	107					2																	80646693		2036	4230	6266	SO:0001819	synonymous_variant	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1257A>G	2.37:g.80646693A>G			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q453	ENST00000402739.4	37	c.1359		2																																																																																			CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.443	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0	62	0	A	NM_004389		80646693	1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	silent	26.32	42	15	SNP	0.997	G	G	80646693	A	G	80646693	2	3	4	1	0	0	0	0	0	0	0	1	4022	69	3	4		4	CTNNA2	2	80646693	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	12038819	80646693	162552680	32	943											
TGOLN2	10618	genome.wustl.edu	37	chr2	85553696	85553696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcagtcaccagatatgCaaagaagtggctgctctccg	10	8	12	11	1	2	2	1	0	1	2	3	2	2	2	2	2	3	5	2	2	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:85553696C>A	ENST00000409232.3	-	2	1220	c.1159G>T	c.(1159-1161)Gca>Tca	p.A387S	TGOLN2_ENST00000409015.1_Missense_Mutation_p.A387S|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A387S|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A329S|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A231S|TGOLN2_ENST00000377386.3_Missense_Mutation_p.A387S			O43493	TGON2_HUMAN	trans-golgi network protein 2	387						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											ACCAGATATGCAAAGAAGTGG	0.552																																																	0													77	79	78					2																	85553696		1935	4141	6076	SO:0001583	missense	0			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1159G>T	2.37:g.85553696C>A	ENSP00000386443:p.Ala387Ser		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	NULL	p.A387S	ENST00000409232.3	37	c.1159	CCDS56126.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.535374	0.96460	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.15718	2.53;2.53;2.4;2.55;2.52;2.52	4.68	4.68	0.58851	.	.	.	.	.	T	0.37019	0.0988	L	0.59436	1.845	0.44275	D	0.997136	D;D;D;D	0.89917	0.992;0.999;1.0;1.0	D;D;D;D	0.91635	0.936;0.997;0.996;0.999	T	0.02654	-1.1128	9	0.34782	T	0.22	-22.5733	15.1379	0.72583	0.0:1.0:0.0:0.0	.	387;387;329;387	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	S	387;231;329;387;387;387	ENSP00000366603:A387S;ENSP00000282120:A231S;ENSP00000381312:A329S;ENSP00000386443:A387S;ENSP00000387035:A387S;ENSP00000391190:A387S	ENSP00000282120:A231S	A	-	1	0	TGOLN2	85407207	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.802000	0.75175	2.430000	0.82344	0.655000	0.94253	GCA	TGOLN2	-	NULL	ENSG00000152291		0.552	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	-	0	41	0	C	NM_006464		85553696	-1	tier1	-	no_errors	ENST00000377386	ensembl	human	known	74_37	missense	42.11	11	8	SNP	1.000	A	A	85553696	C	A	85553696	3	1	4	1	0	0	0	0	1	0	0	0	15883	710	25	3	166	3	TGOLN2	2	85553696	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	4907003	85553696	157645677	33	944											
TBC1D8	11138	genome.wustl.edu	37	chr2	101654942	101654942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgtcatcatccgcagagGtgtcgtagtgcacggggtgg	7	9	15	10	3	2	1	2	0	0	1	4	1	3	1	2	4	1	3	2	4	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:101654942G>T	ENST00000376840.4	-	7	1210	c.1211C>A	c.(1210-1212)aCc>aAc	p.T404N	TBC1D8_ENST00000409318.1_Missense_Mutation_p.T419N			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	404					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						ATCCGCAGAGGTGTCGTAGTG	0.597																																																	0													165	169	168					2																	101654942		2141	4246	6387	SO:0001583	missense	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1211C>A	2.37:g.101654942G>T	ENSP00000366036:p.Thr404Asn		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T419N	ENST00000376840.4	37	c.1256	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	G	3.810	-0.039839	0.07497	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03094	4.05;4.05	5.03	1.71	0.24356	.	0.595751	0.15679	N	0.250015	T	0.02571	0.0078	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.45026	-0.9289	10	0.25751	T	0.34	-10.3837	8.2118	0.31488	0.0:0.3485:0.4089:0.2425	.	419;404	B7Z6L4;O95759	.;TBCD8_HUMAN	N	404;419	ENSP00000366036:T404N;ENSP00000386856:T419N	ENSP00000366036:T404N	T	-	2	0	TBC1D8	101021374	1.000000	0.71417	0.008000	0.14137	0.065000	0.16274	1.579000	0.36536	1.063000	0.40649	0.655000	0.94253	ACC	TBC1D8	-	NULL	ENSG00000204634		0.597	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	-	0	37	0	G	NM_007063		101654942	-1	tier1	-	no_errors	ENST00000409318	ensembl	human	known	74_37	missense	56.25	14	18	SNP	0.000	T	T	101654942	G	T	101654942	3	4	4	1	0	0	0	0	1	0	0	0	15672	1261	44	3	2267	3	TBC1D8	2	101654942	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	16101246	101654942	141544431	34	945											
SLC9A4	389015	genome.wustl.edu	37	chr2	103148843	103148843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcagcgcatgctctcGgatagggtcacttcagaagc	9	9	11	12	3	4	1	3	0	1	1	5	2	4	2	0	2	3	3	0	2	2	3	rs549137706	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:103148843G>T	ENST00000295269.4	+	12	2550	c.2093G>T	c.(2092-2094)cGg>cTg	p.R698L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	698					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATGCTCTCGGATAGGGTCA	0.448																																																	0													97	96	96					2																	103148843		2203	4300	6503	SO:0001583	missense	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2093G>T	2.37:g.103148843G>T	ENSP00000295269:p.Arg698Leu		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.R698L	ENST00000295269.4	37	c.2093	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885733	0.33255	.	.	ENSG00000180251	ENST00000295269	T	0.50001	0.76	4.9	-3.11	0.05299	.	1.117350	0.06971	N	0.818078	T	0.30198	0.0757	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21518	-1.0243	10	0.52906	T	0.07	.	1.3763	0.02221	0.383:0.2411:0.2502:0.1257	.	698	Q6AI14	SL9A4_HUMAN	L	698	ENSP00000295269:R698L	ENSP00000295269:R698L	R	+	2	0	SLC9A4	102515275	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.603000	0.05674	-1.006000	0.03412	-0.140000	0.14226	CGG	SLC9A4	-	NULL	ENSG00000180251		0.448	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1		0	67	0	G	NM_001011552.3		103148843	1			no_errors	ENST00000295269	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	T	T	103148843	G	T	103148843	3	4	4	1	0	0	0	0	1	0	0	0	14761	1116	39	2	2139	2	SLC9A4	2	103148843	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	1493901	103148843	140050530	35	946											
SLC9A2	6549	genome.wustl.edu	37	chr2	103321112	103321112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagcattaggaaggacaGcagcttgaatcgagaacaca	18	5	11	7	1	0	3	0	1	0	2	1	6	0	5	0	2	4	3	0	2	5	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:103321112G>T	ENST00000233969.2	+	10	2097	c.1955G>T	c.(1954-1956)aGc>aTc	p.S652I		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	652					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGAAGGACAGCAGCTTGAAT	0.512																																																	0													106	90	95					2																	103321112		2203	4300	6503	SO:0001583	missense	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1955G>T	2.37:g.103321112G>T	ENSP00000233969:p.Ser652Ile		B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S652I	ENST00000233969.2	37	c.1955	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326083	0.41197	.	.	ENSG00000115616	ENST00000233969	T	0.57273	0.41	5.25	-1.3	0.09259	.	0.606220	0.18206	N	0.148354	T	0.36166	0.0957	L	0.29908	0.895	0.26334	N	0.977475	B	0.23735	0.09	B	0.25759	0.063	T	0.26985	-1.0087	10	0.39692	T	0.17	.	10.0843	0.42408	0.5479:0.0:0.4521:0.0	.	652	Q9UBY0	SL9A2_HUMAN	I	652	ENSP00000233969:S652I	ENSP00000233969:S652I	S	+	2	0	SLC9A2	102687544	0.066000	0.20996	0.998000	0.56505	0.937000	0.57800	-0.232000	0.09055	-0.066000	0.12998	-0.302000	0.09304	AGC	SLC9A2	-	NULL	ENSG00000115616		0.512	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	-	0	52	0	G			103321112	1	tier1	-	no_errors	ENST00000233969	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.997	T	T	103321112	G	T	103321112	3	4	4	1	0	0	0	0	1	0	0	0	14757	971	34	3	1993	3	SLC9A2	2	103321112	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	172269	103321112	139878261	36	947											
RGPD3	653489	genome.wustl.edu	37	chr2	107040934	107040934	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccgctggcattcctcaaaTttctgcttgaattcttcagc	8	14	7	12	1	4	1	2	1	2	0	5	1	5	1	2	1	3	3	2	1	2	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:107040934T>G	ENST00000409886.3	-	20	3576	c.3489A>C	c.(3487-3489)aaA>aaC	p.K1163N	RGPD3_ENST00000304514.7_Missense_Mutation_p.K1163N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1163	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ATTCCTCAAATTTCTGCTTGA	0.448																																																	0													2	2	2					2																	107040934		411	1014	1425	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3489A>C	2.37:g.107040934T>G	ENSP00000386588:p.Lys1163Asn		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1163N	ENST00000409886.3	37	c.3489	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	9.918	1.211364	0.22289	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.49139	0.79;0.79	2.35	-2.12	0.07165	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.56543	0.1992	L	0.56769	1.78	0.26904	N	0.967053	D	0.64830	0.994	D	0.71184	0.972	T	0.50742	-0.8792	9	0.37606	T	0.19	-30.7503	7.4329	0.27139	0.0:0.4844:0.0:0.5156	.	1163	A6NKT7	RGPD3_HUMAN	N	1163;921;1163	ENSP00000386588:K1163N;ENSP00000303659:K1163N	ENSP00000303659:K1163N	K	-	3	2	RGPD3	106407366	1.000000	0.71417	0.992000	0.48379	0.488000	0.33401	0.748000	0.26305	-0.783000	0.04534	-1.181000	0.01715	AAA	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.448	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0	151	0	T	XM_929931		107040934	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	19.08	106	25	SNP	1.000	G	G	107040934	T	G	107040934	3	3	4	1	0	0	0	0	1	0	0	0	13332	1490	52	4	1803	4	RGPD3	2	107040934	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	3719822	107040934	136158439	37	948											
WDR33	55339	genome.wustl.edu	37	chr2	128477228	128477228	+	Frame_Shift_Del	DEL	G	G	-																															agcaggaccctggttctcccGggggcctggaggcccctgca																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:128477228delG	ENST00000322313.4	-	16	2529	c.2371delC	c.(2371-2373)cggfs	p.R791fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	791					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGTTCTCCCGGGGGCCTGGA	0.617																																																	0													24	29	27					2																	128477228		2202	4297	6499	SO:0001589	frameshift_variant	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2371delC	2.37:g.128477228delG	ENSP00000325377:p.Arg791fs		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R791fs	ENST00000322313.4	37	c.2371	CCDS2150.1	2																																																																																			WDR33	-	NULL	ENSG00000136709		0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2		0	41	0	G	NM_018383		128477228	-1	tier1		no_errors	ENST00000322313	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	1.000	-	-	128477228	G	-	128477228	7	5	4	1	0	1	0	1	0	0	0	0	17336	1115	39	0	1667	0	WDR33	2	128477228	Frame_Shift_Del	DEL	G	TCGA-2H-A9GI-01A-11D-A37C-09	21436294	128477228	114722145	38	949											
SAP130	79595	genome.wustl.edu	37	chr2	128757709	128757709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccactggcgtgccagtactGaagattgttttctgtgaggg	7	12	14	8	1	1	3	0	2	1	1	1	3	1	3	2	2	2	2	2	2	2	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:128757709G>A	ENST00000259235.3	-	9	1236	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	SAP130_ENST00000357702.5_Silent_p.F369F|SAP130_ENST00000259234.6_Silent_p.F343F	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	369					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGCCAGTACTGAAGATTGTTT	0.507																																																	0													104	105	105					2																	128757709		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1107C>T	2.37:g.128757709G>A			B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	NULL	p.F369	ENST00000259235.3	37	c.1107	CCDS2153.1	2																																																																																			SAP130	-	NULL	ENSG00000136715		0.507	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3		0	25	0	G	NM_024545		128757709	-1			no_errors	ENST00000357702	ensembl	human	known	74_37	silent	11.11	16	2	SNP	0.997	A	A	128757709	G	A	128757709	2	1	4	1	0	0	0	0	0	0	0	1	13876	1281	45	3		3	SAP130	2	128757709	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	280481	128757709	114441664	39	950											
LCT	3938	genome.wustl.edu	37	chr2	136567304	136567304	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggcacctcagatggaaaAgtgaaggctctgactttgga	12	8	14	7	0	2	3	1	2	1	1	2	6	2	5	1	4	0	2	1	4	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:136567304A>C	ENST00000264162.2	-	8	2623	c.2613T>G	c.(2611-2613)acT>acG	p.T871T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	871	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CAGATGGAAAAGTGAAGGCTC	0.483																																																	0													181	183	182					2																	136567304		2203	4300	6503	SO:0001819	synonymous_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2613T>G	2.37:g.136567304A>C			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T871	ENST00000264162.2	37	c.2613	CCDS2178.1	2																																																																																			LCT	-	NULL	ENSG00000115850		0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	63	0	A	NM_002299		136567304	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	14.89	40	7	SNP	0.000	C	C	136567304	A	C	136567304	2	2	4	1	0	0	0	0	0	0	0	1	8721	59	3	4		4	LCT	2	136567304	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	7809595	136567304	106632069	40	951											
LRP1B	53353	genome.wustl.edu	37	chr2	141092037	141092037	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catacctgtgggtctctgtaAgttcttttgtactaaaatcc	9	16	7	9	0	2	0	0	0	2	0	4	0	3	0	2	1	2	3	2	1	5	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:141092037A>C	ENST00000389484.3	-	79	13179	c.12208T>G	c.(12208-12210)Tta>Gta	p.L4070V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4070					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTCTCTGTAAGTTCTTTTGT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													168	155	160					2																	141092037		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12208T>G	2.37:g.141092037A>C	ENSP00000374135:p.Leu4070Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L4070V	ENST00000389484.3	37	c.12208	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931168	0.52866	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97959	-4.63	6.08	1.16	0.20824	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.214881	0.28465	N	0.015254	D	0.94368	0.8189	L	0.47078	1.49	0.29658	N	0.84346	P	0.47604	0.898	P	0.45167	0.472	D	0.89612	0.3842	10	0.21014	T	0.42	.	4.0925	0.09976	0.5158:0.0:0.2536:0.2306	.	4070	Q9NZR2	LRP1B_HUMAN	V	4070;4008	ENSP00000374135:L4070V	ENSP00000374135:L4070V	L	-	1	2	LRP1B	140808507	0.997000	0.39634	0.976000	0.42696	0.949000	0.60115	1.476000	0.35420	0.180000	0.19960	-0.403000	0.06358	TTA	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	88	0	A	NM_018557		141092037	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	18.46	53	12	SNP	0.732	C	C	141092037	A	C	141092037	3	2	4	1	0	0	0	0	1	0	0	0	8990	69	3	4	1643	4	LRP1B	2	141092037	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	4524733	141092037	102107336	41	952											
LRP1B	53353	genome.wustl.edu	37	chr2	141232707	141232707	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatgttactggaccaacCtttgtgtctatgagatccat	10	16	7	8	0	1	1	0	1	1	1	2	3	2	2	3	1	2	1	3	1	4	5	rs77794732		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:141232707C>T	ENST00000389484.3	-	60	10596	c.9625G>A	c.(9625-9627)Gtc>Atc	p.V3209I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.V3209F(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGACCAACCTTTGTGTCTA	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												2	Substitution - Missense(2)	lung(2)											77	73	74					2																	141232707		2203	4299	6502	SO:0001630	splice_region_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9625+1G>A	2.37:g.141232707C>T			Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V3209I	ENST00000389484.3	37	c.9625	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762279	0.69763	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	5.72	5.72	0.89469	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.93099	0.7803	L	0.39633	1.23	0.58432	D	0.999997	D	0.58970	0.984	D	0.68192	0.956	D	0.91614	0.5305	9	.	.	.	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	I	3209;3147	ENSP00000374135:V3209I	.	V	-	1	0	LRP1B	140949177	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.771000	0.85420	2.704000	0.92352	0.650000	0.86243	GTC	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	38	0	C	NM_018557	Missense_Mutation	141232707	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T	T	141232707	C	T	141232707	5	4	4	1	0	0	0	0	0	0	1	0	8990	695	24	3	4302	3	LRP1B	2	141232707	Splice_Site	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	140670	141232707	101966666	42	953											
LRP1B	53353	genome.wustl.edu	37	chr2	141250214	141250214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttggagccatcagtgctaAttttccttatctcatgatga	10	15	8	8	0	2	2	2	2	1	0	4	3	3	3	2	1	2	2	2	1	2	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:141250214A>C	ENST00000389484.3	-	57	10054	c.9083T>G	c.(9082-9084)aTt>aGt	p.I3028S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3028					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.I3028S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCAGTGCTAATTTTCCTTAT	0.358										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	large_intestine(1)											216	190	199					2																	141250214		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9083T>G	2.37:g.141250214A>C	ENSP00000374135:p.Ile3028Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I3028S	ENST00000389484.3	37	c.9083	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788774	0.70337	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91996	-2.95	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.086137	0.48767	D	0.000169	D	0.91195	0.7226	M	0.74389	2.26	0.41910	D	0.990468	B	0.33073	0.396	B	0.29785	0.107	D	0.91553	0.5258	10	0.87932	D	0	.	15.1304	0.72517	1.0:0.0:0.0:0.0	.	3028	Q9NZR2	LRP1B_HUMAN	S	3028;2966	ENSP00000374135:I3028S	ENSP00000374135:I3028S	I	-	2	0	LRP1B	140966684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.246000	0.95438	1.985000	0.57927	0.377000	0.23210	ATT	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.358	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	105	0	A	NM_018557		141250214	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	19.78	73	18	SNP	1.000	C	C	141250214	A	C	141250214	3	2	4	1	0	0	0	0	1	0	0	0	8990	101	4	4	4856	4	LRP1B	2	141250214	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	17507	141250214	101949159	43	954											
NEB	4703	genome.wustl.edu	37	chr2	152362681	152362681	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattcactgtgtctttaccGagctaatgtggtcctgtgtt	6	16	10	9	1	2	0	1	0	1	0	3	1	3	0	2	1	2	3	2	1	2	5	rs202191938	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:152362681G>A	ENST00000172853.10	-	136	18692	c.18545C>T	c.(18544-18546)tCg>tTg	p.S6182L	NEB_ENST00000397336.2_5'Flank|NEB_ENST00000427231.2_Splice_Site_p.S7883L|NEB_ENST00000509223.2_Splice_Site_p.S13L|NEB_ENST00000409198.1_Splice_Site_p.S6182L|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000604864.1_Splice_Site_p.S7883L|NEB_ENST00000603639.1_Splice_Site_p.S7883L|NEB_ENST00000397345.3_Splice_Site_p.S7883L			P20929	NEBU_HUMAN	nebulin	6182					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTCTTTACCGAGCTAATGTG	0.428													G|||	3	0.000599042	0	0.0029	5008	,	,		21529	0		0.001	False		,,,				2504	0																0													325	311	315					2																	152362681		1940	4152	6092	SO:0001630	splice_region_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18546+1C>T	2.37:g.152362681G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.S7883L	ENST00000172853.10	37	c.23648		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413110|3.413110	0.62511|0.62511	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000509223;ENST00000424585	.|T;T;T;T;T;T;T	.|0.46819	.|0.86;0.86;0.86;0.86;0.86;4.17;0.86	6.11|6.11	6.11|6.11	0.99139|0.99139	.|.	.|0.453854	.|0.23918	.|N	.|0.043275	T|T	0.66973|0.66973	0.2844|0.2844	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|P;B;P;P;D	.|0.76494	.|0.915;0.031;0.471;0.718;0.999	.|P;B;B;B;D	.|0.65684	.|0.468;0.003;0.228;0.294;0.937	T|T	0.64202|0.64202	-0.6463|-0.6463	5|10	.|0.56958	.|D	.|0.05	.|.	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|13;13;6182;7883;2613	.|B7Z6B9;B7Z6P9;P20929;F8WCP0;Q14215	.|.;.;NEBU_HUMAN;.;.	W|L	79;434|6182;7883;7883;2231;2613;6182;13;110	.|ENSP00000386259:S6182L;ENSP00000380505:S7883L;ENSP00000416578:S7883L;ENSP00000410961:S2613L;ENSP00000172853:S6182L;ENSP00000427083:S13L;ENSP00000404876:S110L	.|ENSP00000172853:S6182L	R|S	-|-	1|2	2|0	NEB|NEB	152070927|152070927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.351000|0.351000	0.29236|0.29236	7.531000|7.531000	0.81973|0.81973	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	CGG|TCG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif	ENSG00000183091		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	90	0	G	NM_004543	Missense_Mutation	152362681	-1	tier1	rs202191938	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	24.32	56	18	SNP	1.000	A	A	152362681	G	A	152362681	5	1	4	1	0	0	0	0	0	0	1	0	10341	1072	37	1	2005	1	NEB	2	152362681	Splice_Site	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	11112467	152362681	90836692	44	955											
ABCB11	8647	genome.wustl.edu	37	chr2	169842731	169842731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacacgaatccagtaaaGaatcccatcactattccttt	14	10	3	14	1	1	1	1	0	0	1	4	2	4	1	4	0	0	1	4	0	5	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:169842731G>T	ENST00000263817.6	-	10	1096	c.972C>A	c.(970-972)ttC>ttA	p.F324L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	324	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATCCAGTAAAGAATCCCATCA	0.438																																																	0													156	148	151					2																	169842731		1914	4125	6039	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.972C>A	2.37:g.169842731G>T	ENSP00000263817:p.Phe324Leu		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F324L	ENST00000263817.6	37	c.972	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	7.813	0.716159	0.15306	.	.	ENSG00000073734	ENST00000263817	D	0.87729	-2.29	5.52	2.46	0.29980	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.141663	0.64402	N	0.000005	T	0.69744	0.3145	N	0.08118	0	0.48901	D	0.999726	B	0.06786	0.001	B	0.15870	0.014	T	0.56980	-0.7889	10	0.18276	T	0.48	.	7.4027	0.26973	0.1407:0.0:0.5359:0.3234	.	324	O95342	ABCBB_HUMAN	L	324	ENSP00000263817:F324L	ENSP00000263817:F324L	F	-	3	2	ABCB11	169550977	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	0.506000	0.22658	0.740000	0.32651	0.557000	0.71058	TTC	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.438	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2		0	59	0	G	NM_003742		169842731	-1			no_errors	ENST00000263817	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.998	T	T	169842731	G	T	169842731	3	4	4	1	0	0	0	0	1	0	0	0	42	933	33	3	3069	3	ABCB11	2	169842731	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	17480050	169842731	73356642	45	956											
ITGA6	3655	genome.wustl.edu	37	chr2	173352291	173352291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggagaaacagttgagttGtgttgccaaccagaatggct	13	9	12	7	0	0	3	0	1	0	2	0	4	0	3	2	2	3	4	2	2	3	3	rs142894108		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:173352291G>A	ENST00000264106.6	+	17	2497	c.2294G>A	c.(2293-2295)tGt>tAt	p.C765Y	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.C721Y|ITGA6_ENST00000375221.2_Missense_Mutation_p.C765Y|ITGA6_ENST00000409080.1_Missense_Mutation_p.C726Y|ITGA6_ENST00000264107.7_Missense_Mutation_p.C726Y|ITGA6_ENST00000409532.1_Missense_Mutation_p.C607Y			P23229	ITA6_HUMAN	integrin, alpha 6	765					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CAGTTGAGTTGTGTTGCCAAC	0.418																																																	0								G	TYR/CYS,TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	67	69	68		2177,2177	5.6	1	2	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	ITGA6	NM_000210.2,NM_001079818.1	194,194	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	726/1074,726/1092	173352291	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2294G>A	2.37:g.173352291G>A	ENSP00000264106:p.Cys765Tyr		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.C765Y	ENST00000264106.6	37	c.2294		2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506772	0.85282	2.27E-4	0.0	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	D;D;D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	D	0.92698	0.6172	10	0.44086	T	0.13	.	19.6457	0.95776	0.0:0.0:1.0:0.0	.	721;765;726;726	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	Y	607;726;765;765;721;726;765;721	ENSP00000386614:C607Y;ENSP00000264107:C726Y;ENSP00000264106:C765Y;ENSP00000364369:C765Y;ENSP00000341078:C721Y;ENSP00000386896:C726Y;ENSP00000406694:C765Y;ENSP00000394169:C721Y	ENSP00000264106:C765Y	C	+	2	0	ITGA6	173060537	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.050000	0.93843	2.620000	0.88729	0.655000	0.94253	TGT	ITGA6	-	pfam_Integrin_alpha-2	ENSG00000091409		0.418	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding		-	0	63	0	G			173352291	1	tier1	rs142894108	no_errors	ENST00000264106	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	173352291	G	A	173352291	3	1	4	1	0	0	0	0	1	0	0	0	7907	1377	48	3	2239	3	ITGA6	2	173352291	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	3509560	173352291	69847082	46	957											
TTN	7273	genome.wustl.edu	37	chr2	179402367	179402367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactgcggtgttgcttgcagGagaagcttactactggtttc	8	13	12	8	1	0	1	0	0	0	1	1	2	0	1	0	3	7	5	0	3	4	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179402367G>A	ENST00000591111.1	-	305	94868	c.94644C>T	c.(94642-94644)ctC>ctT	p.L31548L	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.L24316L|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.L24249L|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Silent_p.L33189L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.L30621L|TTN_ENST00000460472.2_Silent_p.L24124L|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31548	Ig-like 140.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTTGCAGGAGAAGCTTAC	0.448																																																	0													83	85	84					2																	179402367		1933	4143	6076	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94644C>T	2.37:g.179402367G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L30621	ENST00000591111.1	37	c.91863		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	93	0	G	NM_133378		179402367	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	28.57	65	26	SNP	0.973	A	A	179402367	G	A	179402367	2	1	4	1	0	0	0	0	0	0	0	1	16784	1161	41	3		3	TTN	2	179402367	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	6050076	179402367	63797006	47	958											
TTN	7273	genome.wustl.edu	37	chr2	179412266	179412266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttgagtgcgcttgaCactggaattgacaagctgcc	10	13	10	8	1	0	3	0	3	0	0	0	4	0	4	1	1	3	2	1	1	3	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179412266C>T	ENST00000591111.1	-	289	89388	c.89164G>A	c.(89164-89166)Gtc>Atc	p.V29722I	TTN_ENST00000342175.6_Missense_Mutation_p.V22490I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22423I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V31363I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V28795I|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22298I|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29722	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCGCTTGACACTGGAATTG	0.413																																																	0													79	78	78					2																	179412266		1899	4113	6012	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89164G>A	2.37:g.179412266C>T	ENSP00000465570:p.Val29722Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V28795I	ENST00000591111.1	37	c.86383		2	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200812	0.38905	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.92	4.07	0.47477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45518	0.1346	L	0.45228	1.405	0.51767	D	0.999932	B;B;B;B	0.15719	0.002;0.002;0.002;0.014	B;B;B;B	0.17098	0.005;0.005;0.01;0.017	T	0.39210	-0.9625	9	0.87932	D	0	.	11.4504	0.50149	0.0:0.849:0.0:0.151	.	22298;22423;22490;29722	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	28795;22298;22490;22423;22295	ENSP00000343764:V28795I;ENSP00000434586:V22298I;ENSP00000340554:V22490I;ENSP00000352154:V22423I	ENSP00000340554:V22490I	V	-	1	0	TTN	179120512	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.059000	0.71133	0.779000	0.33543	-0.136000	0.14681	GTC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	38	0	C	NM_133378		179412266	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	T	T	179412266	C	T	179412266	3	4	4	1	0	0	0	0	1	0	0	0	16784	478	17	3	13988	3	TTN	2	179412266	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	9899	179412266	63787107	48	959											
TTN	7273	genome.wustl.edu	37	chr2	179429645	179429645	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccaggtggtccaggttCtttaaatggatattgtacaa	11	14	10	6	0	1	0	0	0	1	0	3	1	3	1	2	4	1	3	2	4	5	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179429645C>A	ENST00000591111.1	-	276	76515	c.76291G>T	c.(76291-76293)Gaa>Taa	p.E25431*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E18199*|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E18132*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E27072*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E24504*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E18007*|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25431					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCCAGGTTCTTTAAATGGA	0.413																																																	0													100	96	98					2																	179429645		1866	4102	5968	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76291G>T	2.37:g.179429645C>A	ENSP00000465570:p.Glu25431*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E24504*	ENST00000591111.1	37	c.73510		2	.	.	.	.	.	.	.	.	.	.	C	64	82.429846	0.99994	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.02	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.1273	0.86717	0.0:0.7633:0.2366:0.0	.	.	.	.	X	24504;18007;18199;18132;18005	.	ENSP00000340554:E18199X	E	-	1	0	TTN	179137891	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.065000	0.57513	1.529000	0.49120	0.650000	0.86243	GAA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	59	0	C	NM_133378		179429645	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	20.00	32	8	SNP	0.966	A	A	179429645	C	A	179429645	4	1	4	1	0	0	0	0	0	1	0	0	16784	922	32	3	26913	3	TTN	2	179429645	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	17379	179429645	63769728	49	960											
TTN	7273	genome.wustl.edu	37	chr2	179472775	179472775	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatagttgtagagcttgtgTcagtgactcttgggataggt	9	14	13	5	0	2	2	1	1	1	1	2	3	2	3	0	2	1	3	0	2	4	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179472775T>G	ENST00000591111.1	-	226	48040	c.47816A>C	c.(47815-47817)gAc>gCc	p.D15939A	TTN_ENST00000342175.6_Missense_Mutation_p.D8707A|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8640A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D17580A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15012A|TTN_ENST00000460472.2_Missense_Mutation_p.D8515A			Q8WZ42	TITIN_HUMAN	titin	15939	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGCTTGTGTCAGTGACTCT	0.423																																																	0													80	79	80					2																	179472775		1870	4101	5971	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47816A>C	2.37:g.179472775T>G	ENSP00000465570:p.Asp15939Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D15012A	ENST00000591111.1	37	c.45035		2	.	.	.	.	.	.	.	.	.	.	T	10.07	1.250790	0.22880	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46054	0.1373	L	0.31804	0.96	0.51233	D	0.999911	B;B;B;B	0.33171	0.248;0.248;0.248;0.4	B;B;B;B	0.34180	0.103;0.103;0.103;0.177	T	0.48305	-0.9047	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	8515;8640;8707;15939	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	15012;8515;8707;8640;8515	ENSP00000343764:D15012A;ENSP00000434586:D8515A;ENSP00000340554:D8707A;ENSP00000352154:D8640A	ENSP00000340554:D8707A	D	-	2	0	TTN	179181020	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.291000	0.51764	2.371000	0.80710	0.533000	0.62120	GAC	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	36	0	T	NM_133378		179472775	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	G	G	179472775	T	G	179472775	3	3	4	1	0	0	0	0	1	0	0	0	16784	1667	58	4	55302	4	TTN	2	179472775	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	43130	179472775	63726598	50	961											
TTN	7273	genome.wustl.edu	37	chr2	179548772	179548772	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggtttgagtttcagaacTttttcttctgggacagctct	7	18	9	7	0	4	2	1	1	3	1	4	3	4	3	0	2	2	3	0	2	2	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179548772T>G	ENST00000591111.1	-	131	32033	c.31809A>C	c.(31807-31809)aaA>aaC	p.K10603N	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K10920N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K9676N|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCAGAACTTTTTCTTCTG	0.368																																																	0													84	82	83					2																	179548772		1801	4070	5871	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31809A>C	2.37:g.179548772T>G	ENSP00000465570:p.Lys10603Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K9676N	ENST00000591111.1	37	c.29028		2	.	.	.	.	.	.	.	.	.	.	T	6.066	0.380518	0.11466	.	.	ENSG00000155657	ENST00000342992	T	0.70516	-0.49	5.06	0.0133	0.14095	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.68787	0.3039	L	0.48362	1.52	0.19300	N	0.999974	B	0.33299	0.407	B	0.43950	0.437	T	0.63928	-0.6526	9	0.87932	D	0	.	9.0768	0.36527	0.0:0.428:0.0:0.572	.	10603	Q8WZ42	TITIN_HUMAN	N	9676	ENSP00000343764:K9676N	ENSP00000343764:K9676N	K	-	3	2	TTN	179257017	0.038000	0.19896	0.051000	0.19133	0.314000	0.28054	0.091000	0.15046	-0.133000	0.11537	-0.400000	0.06385	AAA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	108	0	T	NM_133378		179548772	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	20.91	87	23	SNP	0.093	G	G	179548772	T	G	179548772	3	3	4	1	0	0	0	0	1	0	0	0	16784	1606	56	4	71689	4	TTN	2	179548772	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	75997	179548772	63650601	51	962											
TTN	7273	genome.wustl.edu	37	chr2	179614061	179614061	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcccttcagcctgacattGtatgaattcagccctgatgg	8	14	8	11	0	2	3	2	3	0	0	3	3	3	3	3	1	2	1	3	1	2	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:179614061G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Missense_Mutation_p.Q4356K|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTGACATTGTATGAATTCA	0.418																																																	0													88	94	92					2																	179614061		2203	4298	6501	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3789C>A	2.37:g.179614061G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q4356K	ENST00000591111.1	37	c.13066		2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608721	0.46527	.	.	ENSG00000155657	ENST00000360870	T	0.57273	0.41	6.08	5.2	0.72013	.	.	.	.	.	T	0.40067	0.1102	N	0.19112	0.55	0.54753	D	0.99998	B	0.12013	0.005	B	0.12837	0.008	T	0.14420	-1.0473	9	0.36615	T	0.2	.	15.7516	0.77989	0.0:0.0:0.8622:0.1378	.	4356	Q8WZ42-6	.	K	4356	ENSP00000354117:Q4356K	ENSP00000354117:Q4356K	Q	-	1	0	TTN	179322306	0.294000	0.24380	0.008000	0.14137	0.004000	0.04260	2.171000	0.42453	1.565000	0.49641	0.655000	0.94253	CAA	TTN	-	NULL	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	48	0	G	NM_133378		179614061	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.060	T	T	179614061	G	T	179614061	1	4	4	0	1	0	0	0	0	0	0	0	16784	1386	48	3		3	TTN	2	179614061	Intron	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	65289	179614061	63585312	52	963											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202352531	202352531	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggttatggatatcatctGagctttttcctaaaagcctt	10	16	7	8	0	2	1	1	1	1	0	3	2	3	2	2	2	2	2	2	2	4	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:202352531G>T	ENST00000286195.3	-	15	1720	c.1676C>A	c.(1675-1677)tCa>tAa	p.S559*	ALS2CR11_ENST00000482942.1_5'UTR|ALS2CR11_ENST00000439140.1_Nonsense_Mutation_p.S1756*|ALS2CR11_ENST00000439802.1_3'UTR	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	559										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GATATCATCTGAGCTTTTTCC	0.373																																																	0													265	254	258					2																	202352531		2203	4300	6503	SO:0001587	stop_gained	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1676C>A	2.37:g.202352531G>T	ENSP00000286195:p.Ser559*		C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Nonsense_Mutation	SNP	superfamily_C2_dom	p.S559*	ENST00000286195.3	37	c.1676	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.520160	0.97633	.	.	ENSG00000155754	ENST00000286195;ENST00000439140	.	.	.	4.92	4.92	0.64577	.	0.702625	0.12435	N	0.469185	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	13.4802	0.61332	0.0:0.0:1.0:0.0	.	.	.	.	X	559;1756	.	ENSP00000286195:S559X	S	-	2	0	ALS2CR11	202060776	0.224000	0.23674	0.104000	0.21259	0.097000	0.18754	4.638000	0.61353	2.542000	0.85734	0.650000	0.86243	TCA	ALS2CR11	-	NULL	ENSG00000155754		0.373	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	-	0	87	0	G	NM_152525		202352531	-1	tier1	-	no_errors	ENST00000286195	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.126	T	T	202352531	G	T	202352531	4	4	4	1	0	0	0	0	0	1	0	0	552	1294	45	3	199	3	ALS2CR11	2	202352531	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	22738470	202352531	40846842	53	964											
RAPH1	65059	genome.wustl.edu	37	chr2	204306090	204306090	+	Frame_Shift_Del	DEL	G	G	-																															tcttaggttgcggggataaaGggggcacaagtgaagtgtag																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:204306090delG	ENST00000319170.5	-	14	2122	c.1823delC	c.(1822-1824)cctfs	p.P608fs	RAPH1_ENST00000374493.3_Frame_Shift_Del_p.P660fs|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	608					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGGGATAAAGGGGGCACAAG	0.522																																																	0													32	35	34					2																	204306090		1762	3453	5215	SO:0001589	frameshift_variant	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1823delC	2.37:g.204306090delG	ENSP00000316543:p.Pro608fs		Q96Q37|Q9C0I2	Frame_Shift_Del	DEL	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.P660fs	ENST00000319170.5	37	c.1979	CCDS2359.1	2																																																																																			RAPH1	-	superfamily_Kinase-like_dom	ENSG00000173166		0.522	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2		0	24	0	G	NM_025252		204306090	-1	tier1		no_errors	ENST00000374493	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.975	-	-	204306090	G	-	204306090	7	5	4	1	0	1	0	1	0	0	0	0	13095	1000	35	0	1933	0	RAPH1	2	204306090	Frame_Shift_Del	DEL	G	TCGA-2H-A9GI-01A-11D-A37C-09	1953559	204306090	38893283	54	965											
NRP2	8828	genome.wustl.edu	37	chr2	206641091	206641091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgctggtctccgtcgcGctggccctggtgctccacta	2	11	13	15	3	1	0	0	0	1	0	4	0	2	0	3	4	2	3	3	4	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:206641091G>A	ENST00000357118.4	+	16	2578	c.2547G>A	c.(2545-2547)gcG>gcA	p.A849A	NRP2_ENST00000357785.5_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000272849.3_Silent_p.A854A|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000540178.1_Intron	NM_201267.1	NP_957719	Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCTCCGTCGCGCTGGCCCTGG	0.647											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													76	65	69					2																	206641091		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357118.4:c.2547G>A	2.37:g.206641091G>A		2161	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_Neuropilin1_C,pfam_MAM_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.A854	ENST00000357118.4	37	c.2562	CCDS46498.1	2																																																																																			NRP2	-	pirsf_Neuropilin,pfam_Neuropilin1_C	ENSG00000118257		0.647	NRP2-003	KNOWN	basic|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336465.1		0	47	0	G			206641091	1			no_errors	ENST00000272849	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.891	A	A	206641091	G	A	206641091	2	1	4	1	0	0	0	0	0	0	0	1	10700	1074	38	1		1	NRP2	2	206641091	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	2335001	206641091	36558282	55	966											
TNS1	7145	genome.wustl.edu	37	chr2	218678420	218678420	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggttaccttttttattctGctgcatgatggttggaggtg	6	17	13	5	0	1	1	0	1	1	0	1	3	1	2	1	4	3	4	1	4	2	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:218678420G>A	ENST00000171887.4	-	26	4989	c.4537C>T	c.(4537-4539)Cag>Tag	p.Q1513*	TNS1_ENST00000419504.1_Nonsense_Mutation_p.Q1500*|TNS1_ENST00000430930.1_Nonsense_Mutation_p.Q1492*	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1513	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TTTTTATTCTGCTGCATGATG	0.592																																																	0													136	136	136					2																	218678420		2203	4300	6503	SO:0001587	stop_gained	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4537C>T	2.37:g.218678420G>A	ENSP00000171887:p.Gln1513*		Q4ZG71|Q6IPI5	Nonsense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q1513*	ENST00000171887.4	37	c.4537	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	48	13.929793	0.99770	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	.	.	.	5.15	4.27	0.50696	.	0.070369	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	13.834	0.63398	0.0732:0.0:0.9268:0.0	.	.	.	.	X	1513;651;1500;1492	.	ENSP00000171887:Q1513X	Q	-	1	0	TNS1	218386665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	1.410000	0.46936	0.561000	0.74099	CAG	TNS1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000079308		0.592	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2		0	55	0	G	NM_022648		218678420	-1			no_errors	ENST00000171887	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	A	A	218678420	G	A	218678420	4	1	4	1	0	0	0	0	0	1	0	0	16390	1328	46	3	702	3	TNS1	2	218678420	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	12037329	218678420	24520953	56	967											
C2orf62	375307	genome.wustl.edu	37	chr2	219227598	219227598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcctgaccttggacacCgagggcaaactctgctattt	8	11	9	13	2	1	1	0	1	1	0	2	3	2	2	3	2	2	3	3	2	2	4	rs200618385		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:219227598C>T	ENST00000289388.3	+	6	632	c.603C>T	c.(601-603)acC>acT	p.T201T	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		201					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTGGACACCGAGGGCAAAC	0.587																																																	0								C		0,4406		0,0,2203	53	49	50		603	-9.4	0	2		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C2orf62	NM_198559.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		201/388	219227598	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000289388.3:c.603C>T	2.37:g.219227598C>T				Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.T201	ENST00000289388.3	37	c.603	CCDS2414.1	2																																																																																			C2orf62	-	NULL	ENSG00000158428		0.587	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	-	0	62	0	C			219227598	1	tier1	rs200618385	no_errors	ENST00000289388	ensembl	human	known	74_37	silent	20.00	48	12	SNP	0.008	T	T	219227598	C	T	219227598	2	4	4	1	0	0	0	0	0	0	0	1	2188	639	23	1		1	C2orf62	2	219227598	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	549178	219227598	23971775	57	968											
ABCB6	10058	genome.wustl.edu	37	chr2	220077768	220077768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatcacagtgaaagacaCgtcctgcagagtctcccgcc	11	6	10	14	2	2	3	1	1	1	2	4	3	3	3	3	1	1	2	3	1	1	0	rs374541848		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:220077768C>T	ENST00000265316.3	-	13	2141	c.1825G>A	c.(1825-1827)Gtg>Atg	p.V609M	ABCB6_ENST00000439002.2_Missense_Mutation_p.V563M	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	609	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.V609L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAAAGACACGTCCTGCAGA	0.612																																																	1	Substitution - Missense(1)	lung(1)						C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	66	59	61		1825	2.7	1	2		61	0,8600		0,0,4300	no	missense	ABCB6	NM_005689.2	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	609/843	220077768	1,13005	2203	4300	6503	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.1825G>A	2.37:g.220077768C>T	ENSP00000265316:p.Val609Met		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V609M	ENST00000265316.3	37	c.1825	CCDS2436.1	2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462198	0.43736	2.27E-4	0.0	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.95103	-3.61;-3.61	4.69	2.72	0.32119	ABC transporter-like (1);	0.275149	0.35096	N	0.003460	D	0.96765	0.8944	M	0.88570	2.965	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.913	D	0.96132	0.9093	10	0.72032	D	0.01	-13.9337	8.5064	0.33190	0.0:0.7262:0.0:0.2738	.	563;609	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	M	609;563	ENSP00000265316:V609M;ENSP00000394333:V563M	ENSP00000265316:V609M	V	-	1	0	ABCB6	219786012	0.191000	0.23288	0.993000	0.49108	0.873000	0.50193	0.584000	0.23864	1.184000	0.42957	0.655000	0.94253	GTG	ABCB6	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000115657		0.612	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2		0	45	0	C	NM_005689		220077768	-1			no_errors	ENST00000265316	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.716	T	T	220077768	C	T	220077768	3	4	4	1	0	0	0	0	1	0	0	0	45	536	19	1	731	1	ABCB6	2	220077768	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	850170	220077768	23121605	58	969											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883123	228883123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcgggcactctgtgactaCgtgataattgtgactgcagc	10	11	11	9	2	1	3	0	3	1	0	2	3	1	3	0	1	3	2	0	1	3	3	rs201425414		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:228883123C>T	ENST00000392056.3	-	7	2493	c.2447G>A	c.(2446-2448)cGt>cAt	p.R816H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R816H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	816						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGTGACTACGTGATAATTG	0.458																																																	0													622	588	600					2																	228883123		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2447G>A	2.37:g.228883123C>T	ENSP00000375909:p.Arg816His		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.R816H	ENST00000392056.3	37	c.2447	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	0.040	-1.286994	0.01387	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11495	2.77;2.77	5.97	-0.0112	0.13993	.	0.912315	0.09679	N	0.769986	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B;P	0.39782	0.408;0.688	B;B	0.32805	0.037;0.153	T	0.37009	-0.9724	10	0.15066	T	0.55	.	3.8035	0.08767	0.2036:0.5084:0.0915:0.1966	.	816;816	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	816	ENSP00000375909:R816H;ENSP00000339886:R816H	ENSP00000339886:R816H	R	-	2	0	SPHKAP	228591367	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.262000	0.08682	-0.116000	0.11893	-0.797000	0.03246	CGT	SPHKAP	-	NULL	ENSG00000153820		0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	69	0	C	NM_030623		228883123	-1	tier1	rs201425414	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	T	T	228883123	C	T	228883123	3	4	4	1	0	0	0	0	1	0	0	0	15095	536	19	1	2679	1	SPHKAP	2	228883123	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	8805355	228883123	14316250	59	970											
CHRNG	1146	genome.wustl.edu	37	chr2	233404837	233404837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaccctcaccaacctcatctCcctggtaagccgcaggacgg	10	6	8	17	2	3	0	2	0	1	0	4	1	3	1	5	3	3	2	5	3	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:233404837C>T	ENST00000389494.3	+	2	212	c.191C>T	c.(190-192)tCc>tTc	p.S64F	CHRNG_ENST00000389492.3_Missense_Mutation_p.S64F	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	64					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	AACCTCATCTCCCTGGTAAGC	0.632																																																	0													61	65	64					2																	233404837		2203	4300	6503	SO:0001583	missense	0			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.191C>T	2.37:g.233404837C>T	ENSP00000374145:p.Ser64Phe		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.S64F	ENST00000389494.3	37	c.191	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330366	0.81690	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	T;T	0.80033	-1.33;-1.33	4.03	4.03	0.46877	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000001	D	0.91216	0.7232	M	0.90542	3.125	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	D	0.93461	0.6810	10	0.87932	D	0	.	16.3399	0.83079	0.0:1.0:0.0:0.0	.	64;64	Q14DU4;P07510	.;ACHG_HUMAN	F	64	ENSP00000374145:S64F;ENSP00000374143:S64F	ENSP00000374143:S64F	S	+	2	0	CHRNG	233113081	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.786000	0.69006	2.073000	0.62155	0.462000	0.41574	TCC	CHRNG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt	ENSG00000196811		0.632	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	-	0	65	0	C	NM_005199		233404837	1	tier1	-	no_errors	ENST00000389494	ensembl	human	known	74_37	missense	29.17	51	21	SNP	1.000	T	T	233404837	C	T	233404837	3	4	4	1	0	0	0	0	1	0	0	0	3403	855	30	3	197	3	CHRNG	2	233404837	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	4521714	233404837	9794536	60	971											
SEPT2	4735	genome.wustl.edu	37	chr2	242277134	242277134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggcaatacacaacaagGtgaatattgtgcctgtcatt	14	11	9	7	0	1	2	1	2	0	0	1	2	1	2	1	2	3	1	1	2	7	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:242277134G>T	ENST00000391973.2	+	7	1051	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	SEPT2_ENST00000391971.2_Missense_Mutation_p.V175L|SEPT2_ENST00000360051.3_Missense_Mutation_p.V175L|SEPT2_ENST00000402092.2_Missense_Mutation_p.V175L|SEPT2_ENST00000401990.1_Missense_Mutation_p.V185L|SEPT2_ENST00000407971.1_Missense_Mutation_p.V135L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	175	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		ACACAACAAGGTGAATATTGT	0.418																																																	0													97	92	94					2																	242277134		2203	4300	6503	SO:0001583	missense	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.523G>T	2.37:g.242277134G>T	ENSP00000375834:p.Val175Leu		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2	p.V175L	ENST00000391973.2	37	c.523	CCDS2548.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.456157|5.456157	0.96223|0.96223	.|.	.|.	ENSG00000168385|ENSG00000168385	ENST00000457874|ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	.|T;T;T;T;T;T;T;T	.|0.59083	.|0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80314|0.80314	0.4600|0.4600	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.89917	.|1.0;0.942;0.817	.|D;P;P	.|0.66351	.|0.943;0.643;0.521	D|D	0.85159|0.85159	0.0991|0.0991	5|10	.|0.87932	.|D	.|0	.|.	18.4845|18.4845	0.90824|0.90824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|210;135;175	.|Q15019-2;B5MCX3;Q15019	.|.;.;SEPT2_HUMAN	S|L	146|175;135;175;175;185;135;175;210;30	.|ENSP00000375834:V175L;ENSP00000397195:V135L;ENSP00000353157:V175L;ENSP00000375832:V175L;ENSP00000385109:V185L;ENSP00000384525:V135L;ENSP00000385172:V175L;ENSP00000408296:V30L	.|ENSP00000353157:V175L	R|V	+|+	3|1	2|0	SEPT2|SEPT2	241925807|241925807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.625000|9.625000	0.98406|0.98406	2.366000|2.366000	0.80165|0.80165	0.655000|0.655000	0.94253|0.94253	AGG|GTG	SEPT2	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000168385		0.418	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	0	48	0	G	NM_006155		242277134	1	tier1	-	no_errors	ENST00000360051	ensembl	human	known	74_37	missense	9.43	47	5	SNP	1.000	T	T	242277134	G	T	242277134	3	4	4	1	0	0	0	0	1	0	0	0	14109	1261	44	3	545	3	SEPT2	2	242277134	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	8872297	242277134	922239	61	972											
STK25	10494	genome.wustl.edu	37	chr2	242441080	242441080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacgagcccttgccaatgCggtcgagcttggtgaagagc	10	7	13	11	3	0	2	0	1	0	1	1	4	0	2	2	2	6	1	2	2	3	2	rs200593123		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr2:242441080C>T	ENST00000316586.4	-	3	423	c.74G>A	c.(73-75)cGc>cAc	p.R25H	STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000478403.1_5'Flank|STK25_ENST00000401869.1_Missense_Mutation_p.R25H|STK25_ENST00000405883.3_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.R25H|STK25_ENST00000405585.1_Intron	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	25	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTGCCAATGCGGTCGAGCTT	0.622																																					NSCLC(99;1100 1566 7679 28647 48345)												0													152	120	131					2																	242441080		2203	4300	6503	SO:0001583	missense	0			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.74G>A	2.37:g.242441080C>T	ENSP00000325748:p.Arg25His		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R25H	ENST00000316586.4	37	c.74	CCDS2549.1	2	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570453	0.28003	.	.	ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000436402;ENST00000426941;ENST00000420551	T;T;T;T;T;T	0.39997	1.81;1.81;1.81;1.05;1.05;1.05	3.78	1.95	0.26073	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067963	0.64402	D	0.000014	T	0.31513	0.0799	L	0.45698	1.435	0.80722	D	1	P;P	0.37573	0.6;0.563	B;B	0.32149	0.141;0.048	T	0.10800	-1.0614	10	0.62326	D	0.03	.	9.9645	0.41717	0.0:0.8268:0.0:0.1732	.	25;25	B4DZ52;O00506	.;STK25_HUMAN	H	25;25;25;25;25;40	ENSP00000325748:R25H;ENSP00000384162:R25H;ENSP00000385687:R25H;ENSP00000412617:R25H;ENSP00000414191:R25H;ENSP00000404552:R40H	ENSP00000325748:R25H	R	-	2	0	STK25	242089753	1.000000	0.71417	0.573000	0.28510	0.003000	0.03518	7.541000	0.82084	0.341000	0.23771	-0.253000	0.11424	CGC	STK25	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000115694		0.622	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK25	HGNC	protein_coding	OTTHUMT00000257265.4		0	50	0	C	NM_006374		242441080	-1			no_errors	ENST00000316586	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	242441080	C	T	242441080	3	4	4	1	0	0	0	0	1	0	0	0	15341	768	27	1	1246	1	STK25	2	242441080	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	163946	242441080	758293	62	973											
FANCD2	2177	genome.wustl.edu	37	chr3	10127509	10127509	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttaggagtggattttctCaacctgaaaatcagaattta	13	14	7	7	0	2	2	2	1	1	1	4	4	3	4	2	2	1	0	2	2	6	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:10127509C>G	ENST00000419585.1	+	33	3399	c.3238C>G	c.(3238-3240)Caa>Gaa	p.Q1080E	FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.Q1080E|FANCD2_ENST00000383806.1_Missense_Mutation_p.Q1080E|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000287647.3_Missense_Mutation_p.Q1080E			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1080					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGATTTTCTCAACCTGAAAA	0.453			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													158	154	155					3																	10127509		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3238C>G	3.37:g.10127509C>G	ENSP00000398754:p.Gln1080Glu		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1080E	ENST00000419585.1	37	c.3238	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	1.634	-0.518329	0.04171	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.56	0.338	0.15974	.	0.615082	0.18279	N	0.146072	T	0.39655	0.1086	M	0.61703	1.905	0.09310	N	0.999999	B;B	0.18310	0.027;0.012	B;B	0.15484	0.009;0.013	T	0.31779	-0.9931	10	0.18710	T	0.47	.	10.2283	0.43238	0.2263:0.3939:0.3799:0.0	.	1080;1080	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	E	1080	ENSP00000287647:Q1080E;ENSP00000373318:Q1080E;ENSP00000373317:Q1080E;ENSP00000398754:Q1080E	ENSP00000287647:Q1080E	Q	+	1	0	FANCD2	10102509	0.284000	0.24287	0.000000	0.03702	0.015000	0.08874	1.107000	0.31110	-0.221000	0.09973	-0.171000	0.13296	CAA	FANCD2	-	NULL	ENSG00000144554		0.453	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	-	0	62	0	C			10127509	1	tier1	-	no_errors	ENST00000287647	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.002	G	G	10127509	C	G	10127509	3	3	4	1	0	0	0	0	1	0	0	0	5687	827	29	5	3364	5	FANCD2	3	10127509	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09		10127509	187894921	63	974											
NUP210	23225	genome.wustl.edu	37	chr3	13429848	13429848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgagcttggagctcccGgtcttcatcccagacaccag	7	9	10	15	1	2	2	1	1	1	1	4	3	4	3	4	2	2	2	4	2	0	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:13429848G>A	ENST00000254508.5	-	5	721	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	213					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGAGCTCCCGGTCTTCATCC	0.582																																																	0													90	85	87					3																	13429848		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.639C>T	3.37:g.13429848G>A			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.T213	ENST00000254508.5	37	c.639	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	38	0	G	NM_024923		13429848	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	silent	38.46	16	10	SNP	0.000	A	A	13429848	G	A	13429848	2	1	4	1	0	0	0	0	0	0	0	1	10799	1103	39	1		1	NUP210	3	13429848	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	3302339	13429848	184592582	64	975											
XPC	7508	genome.wustl.edu	37	chr3	14187441	14187441	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctagtgggcgctcagcTcacagctgctcaaatgggaa	9	8	11	13	1	4	0	3	0	1	0	4	1	4	1	1	2	3	4	1	2	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:14187441T>C	ENST00000285021.7	-	16	3037	c.2823A>G	c.(2821-2823)tgA>tgG	p.*941W	AC093495.4_ENST00000420253.1_RNA|XPC_ENST00000449060.2_Nonstop_Mutation_p.*904W|RP11-434D12.1_ENST00000608606.1_Intron|RP11-434D12.1_ENST00000601399.1_Intron|AC093495.4_ENST00000428681.3_RNA	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	0					DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGCGCTCAGCTCACAGCTGCT	0.597			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"xeroderma pigmentosum, complementation group C"		E	0													61	68	66					3																	14187441		1906	4118	6024	SO:0001578	stop_lost	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"xeroderma pigmentosum group C protein"	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2823A>G	3.37:g.14187441T>C	ENSP00000285021:p.*941Cysext*40		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Nonstop_Mutation	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.*941W	ENST00000285021.7	37	c.2823	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694595	0.68386	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	.	.	.	5.09	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.21416	N	0.999696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0385	0.47816	0.1391:0.0:0.0:0.8609	.	.	.	.	W	941;904	.	.	X	-	3	0	XPC	14162442	1.000000	0.71417	0.987000	0.45799	0.622000	0.37654	4.339000	0.59322	2.037000	0.60232	0.377000	0.23210	TGA	XPC	-	NULL	ENSG00000154767		0.597	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	-	0	41	0	T	NM_004628		14187441	-1	tier1	-	no_errors	ENST00000285021	ensembl	human	known	74_37	nonstop	12.90	27	4	SNP	0.998	C	C	14187441	T	C	14187441	4	2	4	1	0	0	0	0	0	0	0	0	17490	1564	54	4	3	4	XPC	3	14187441	Nonstop_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	757593	14187441	183834989	65	976											
ANKRD28	23243	genome.wustl.edu	37	chr3	15765924	15765924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggtacttgactacgcTgatcattccactagaggctg	11	11	10	9	1	1	4	1	2	0	2	2	4	2	4	1	2	2	3	1	2	5	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:15765924T>C	ENST00000399451.2	-	7	1025	c.658A>G	c.(658-660)Agc>Ggc	p.S220G	ANKRD28_ENST00000383777.1_Missense_Mutation_p.S253G|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	220						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTGACTACGCTGATCATTCCA	0.363																																																	0													55	52	53					3																	15765924		1941	4137	6078	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.658A>G	3.37:g.15765924T>C	ENSP00000382379:p.Ser220Gly		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S253G	ENST00000399451.2	37	c.757	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	T	17.87	3.494915	0.64186	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.65178	-0.14;-0.14;-0.14	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.044918	0.85682	D	0.000000	T	0.49372	0.1553	N	0.16233	0.39	0.58432	D	0.999997	P;B;P	0.42692	0.787;0.289;0.617	B;B;B	0.39876	0.312;0.037;0.309	T	0.57464	-0.7807	10	0.66056	D	0.02	.	15.9399	0.79745	0.0:0.0:0.0:1.0	.	253;250;220	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	G	220;253;220	ENSP00000382379:S220G;ENSP00000373287:S253G;ENSP00000397341:S220G	ENSP00000373287:S253G	S	-	1	0	ANKRD28	15740928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.147000	0.58078	2.164000	0.68074	0.528000	0.53228	AGC	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	-	0	58	0	T	NM_015199		15765924	-1	tier1	-	no_errors	ENST00000383777	ensembl	human	known	74_37	missense	37.04	17	10	SNP	1.000	C	C	15765924	T	C	15765924	3	2	4	1	0	0	0	0	1	0	0	0	656	1580	55	4	2591	4	ANKRD28	3	15765924	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	1578483	15765924	182256506	66	977											
RFTN1	23180	genome.wustl.edu	37	chr3	16419421	16419421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagccggagcactgcaCacatccccagtccccggttt	7	7	8	19	2	0	0	0	0	0	0	3	1	3	1	6	2	3	3	6	2	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:16419421C>T	ENST00000334133.4	-	5	902	c.630G>A	c.(628-630)gtG>gtA	p.V210V	RFTN1_ENST00000432519.1_Silent_p.V174V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	210					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GAGCACTGCACACATCCCCAG	0.632																																																	0													74	75	75					3																	16419421		2203	4300	6503	SO:0001819	synonymous_variant	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.630G>A	3.37:g.16419421C>T			Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	NULL	p.V210	ENST00000334133.4	37	c.630	CCDS33712.1	3																																																																																			RFTN1	-	NULL	ENSG00000131378		0.632	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	-	0	83	0	C	NM_015150		16419421	-1	tier1	-	no_errors	ENST00000334133	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.000	T	T	16419421	C	T	16419421	2	4	4	1	0	0	0	0	0	0	0	1	13303	465	17	3		3	RFTN1	3	16419421	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	653497	16419421	181603009	67	978											
AZI2	64343	genome.wustl.edu	37	chr3	28380096	28380096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttgtttcttcttcaaatCgagctattagctaacggtat	11	16	6	8	2	3	0	1	0	2	0	4	1	3	0	0	1	4	4	0	1	6	8			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:28380096C>T	ENST00000479665.1	-	3	758	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	AZI2_ENST00000457172.1_Missense_Mutation_p.R76Q|AZI2_ENST00000420543.2_Missense_Mutation_p.R76Q|AZI2_ENST00000334100.6_Missense_Mutation_p.R76Q|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	76	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTCTTCAAATCGAGCTATTAG	0.353																																																	0													93	84	87					3																	28380096		2202	4300	6502	SO:0001583	missense	0			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.227G>A	3.37:g.28380096C>T	ENSP00000419371:p.Arg76Gln		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	NULL	p.R76Q	ENST00000479665.1	37	c.227	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563838	0.27915	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	5.79	3.98	0.46160	.	0.226600	0.30890	N	0.008668	T	0.27798	0.0684	L	0.41236	1.265	0.23806	N	0.996791	B;B;B;B;B	0.25809	0.135;0.055;0.004;0.032;0.095	B;B;B;B;B	0.18871	0.016;0.014;0.003;0.008;0.023	T	0.20538	-1.0272	9	0.41790	T	0.15	-8.3168	3.1638	0.06529	0.1373:0.5622:0.1495:0.151	.	76;76;76;76;76	Q9H6S1-3;C9JB40;C9JGA2;C9JVK8;Q9H6S1	.;.;.;.;AZI2_HUMAN	Q	76	.	ENSP00000335609:R76Q	R	-	2	0	AZI2	28355100	0.782000	0.28689	0.858000	0.33744	0.967000	0.64934	0.963000	0.29293	0.779000	0.33543	0.655000	0.94253	CGA	AZI2	-	NULL	ENSG00000163512		0.353	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	-	0	106	0	C	NM_203326		28380096	-1	tier1	-	no_errors	ENST00000479665	ensembl	human	known	74_37	missense	24.00	38	12	SNP	0.446	T	T	28380096	C	T	28380096	3	4	4	1	0	0	0	0	1	0	0	0	1242	884	31	1	1064	1	AZI2	3	28380096	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	11960675	28380096	169642334	68	979											
SCN10A	6336	genome.wustl.edu	37	chr3	38783782	38783782	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaccagccagagcactcacGatgttgcctatctggagcat	10	9	10	12	1	2	1	1	0	1	1	2	3	2	2	3	1	5	4	3	1	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:38783782G>A	ENST00000449082.2	-	13	2105	c.2106C>T	c.(2104-2106)atC>atT	p.I702I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	702					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAGCACTCACGATGTTGCCTA	0.602																																																	0													87	65	73					3																	38783782		2203	4300	6503	SO:0001630	splice_region_variant	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2106+1C>T	3.37:g.38783782G>A			A6NDQ1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.I702	ENST00000449082.2	37	c.2106	CCDS33736.1	3																																																																																			SCN10A	-	pfam_Ion_trans_dom	ENSG00000185313		0.602	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	-	0	24	0	G	NM_006514	Silent	38783782	-1	tier1	-	no_errors	ENST00000449082	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.998	A	A	38783782	G	A	38783782	5	1	4	1	0	0	0	0	0	0	1	0	13957	1072	37	1	3824	1	SCN10A	3	38783782	Splice_Site	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10403686	38783782	159238648	69	980											
XIRP1	165904	genome.wustl.edu	37	chr3	39229334	39229334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgccgggtgatgccccGcaccacgtcgatggtactgg	5	9	13	14	4	0	1	0	1	0	0	2	2	1	1	5	3	3	2	5	3	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:39229334G>A	ENST00000340369.3	-	2	1831	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	XIRP1_ENST00000396251.1_Missense_Mutation_p.R535W|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	535	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGATGCCCCGCACCACGTCG	0.617																																																	0													64	62	63					3																	39229334		2203	4300	6503	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1603C>T	3.37:g.39229334G>A	ENSP00000343140:p.Arg535Trp		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R535W	ENST00000340369.3	37	c.1603	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594110	0.66219	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.07327	3.2;3.57	5.17	4.28	0.50868	.	0.063724	0.64402	D	0.000009	T	0.24812	0.0602	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.927	T	0.01030	-1.1475	10	0.87932	D	0	.	13.0329	0.58854	0.0:0.0:0.8377:0.1623	.	535;535	Q702N8;Q702N8-2	XIRP1_HUMAN;.	W	535	ENSP00000379550:R535W;ENSP00000343140:R535W	ENSP00000343140:R535W	R	-	1	2	XIRP1	39204338	0.987000	0.35691	0.979000	0.43373	0.983000	0.72400	2.087000	0.41653	1.278000	0.44430	0.655000	0.94253	CGG	XIRP1	-	NULL	ENSG00000168334		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	-	0	68	0	G	XM_093522		39229334	-1	tier1	-	no_errors	ENST00000340369	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.994	A	A	39229334	G	A	39229334	3	1	4	1	0	0	0	0	1	0	0	0	17478	1086	38	1	3932	1	XIRP1	3	39229334	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	445552	39229334	158793096	70	981											
MYL3	4634	genome.wustl.edu	37	chr3	46904790	46904790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactcgacctccttagggcGctcaggctcagggggaggtg	8	7	15	11	2	2	0	2	0	0	0	4	2	3	1	2	5	1	2	2	5	2	1	rs377026344		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:46904790G>A	ENST00000395869.1	-	1	142	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYL3_ENST00000292327.4_Missense_Mutation_p.R31C			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	31					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCCTTAGGGCGCTCAGGCTCA	0.602																																					Melanoma(166;130 1949 2249 18977 46142)												0									CYS/ARG	0,4406		0,0,2203	105	110	108		91	3.8	0.1	3		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYL3	NM_000258.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	31/196	46904790	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"Myosins / Light chain", "EF-hand domain containing"	7584	protein-coding gene	gene with protein product		160790	"myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.91C>T	3.37:g.46904790G>A	ENSP00000379210:p.Arg31Cys		B2R534|Q9NRS8	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.R31C	ENST00000395869.1	37	c.91	CCDS2746.1	3	.	.	.	.	.	.	.	.	.	.	G	8.233	0.805000	0.16467	0.0	1.16E-4	ENSG00000160808	ENST00000395869;ENST00000292327;ENST00000431168	D;D	0.84660	-1.88;-1.88	4.68	3.78	0.43462	.	0.633837	0.14361	N	0.324444	T	0.76521	0.3999	L	0.36672	1.1	0.33259	D	0.559466	P	0.44044	0.825	B	0.33890	0.172	T	0.81493	-0.0908	10	0.56958	D	0.05	-1.2058	12.7183	0.57127	0.0:0.167:0.8329:0.0	.	31	P08590	MYL3_HUMAN	C	31	ENSP00000379210:R31C;ENSP00000292327:R31C	ENSP00000292327:R31C	R	-	1	0	MYL3	46879794	0.157000	0.22836	0.100000	0.21137	0.075000	0.17131	0.822000	0.27352	1.275000	0.44379	0.561000	0.74099	CGC	MYL3	-	NULL	ENSG00000160808		0.602	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL3	HGNC	protein_coding	OTTHUMT00000259165.2	-	0	65	0	G	NM_000258		46904790	-1	tier1	-	no_errors	ENST00000292327	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.684	A	A	46904790	G	A	46904790	3	1	4	1	0	0	0	0	1	0	0	0	10086	1087	38	1	520	1	MYL3	3	46904790	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	7675456	46904790	151117640	71	982											
CELSR3	1951	genome.wustl.edu	37	chr3	48690521	48690521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaactccagccgcagatCgtgccaccggccatcactga	9	6	9	17	3	1	2	1	1	0	1	3	2	2	2	5	1	4	2	5	1	1	0	rs146491964		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:48690521C>T	ENST00000164024.4	-	10	5828	c.5548G>A	c.(5548-5550)Gat>Aat	p.D1850N	CELSR3_ENST00000544264.1_Missense_Mutation_p.D1850N	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1850	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCCGCAGATCGTGCCACCGG	0.617																																																	0								C	ASN/ASP	0,4406		0,0,2203	57	56	56		5548	5.3	1	3	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1850/3313	48690521	1,13005	2203	4300	6503	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5548G>A	3.37:g.48690521C>T	ENSP00000164024:p.Asp1850Asn		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.D1850N	ENST00000164024.4	37	c.5548	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491663	0.84962	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.77098	-1.07;-1.07	5.33	5.33	0.75918	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.85570	0.5727	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.79784	0.913;0.993	T	0.81716	-0.0806	9	0.20519	T	0.43	.	19.037	0.92983	0.0:1.0:0.0:0.0	.	1850;1920	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	N	1850	ENSP00000164024:D1850N;ENSP00000445694:D1850N	ENSP00000164024:D1850N	D	-	1	0	CELSR3	48665525	1.000000	0.71417	0.999000	0.59377	0.579000	0.36224	3.573000	0.53856	2.504000	0.84457	0.563000	0.77884	GAT	CELSR3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000008300		0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	-	0	72	0	C	NM_001407		48690521	-1	tier1	rs146491964	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	T	T	48690521	C	T	48690521	3	4	4	1	0	0	0	0	1	0	0	0	3230	884	31	1	4494	1	CELSR3	3	48690521	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1785731	48690521	149331909	72	983											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64599178	64599178	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcccttttccacaggtgAccaagcactgtaatgaaaag	13	10	8	10	0	0	2	0	2	0	0	1	2	1	2	3	1	2	2	3	1	5	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:64599178A>C	ENST00000498707.1	-	22	3539	c.3197T>G	c.(3196-3198)gTc>gGc	p.V1066G	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1038G	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1066	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCACAGGTGACCAAGCACTG	0.458																																																	0													64	60	61					3																	64599178		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3197T>G	3.37:g.64599178A>C	ENSP00000418735:p.Val1066Gly		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1066G	ENST00000498707.1	37	c.3197	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.087436|4.087436	0.76642|0.76642	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.64991	.|-0.13;-0.13	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82148|0.82148	0.4974|0.4974	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.91635	.|0.997;0.999;0.995	D|D	0.85269|0.85269	0.1055|0.1055	5|10	.|0.72032	.|D	.|0.01	.|.	16.3043|16.3043	0.82842|0.82842	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1038;1066;1066	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	A|G	122|1038;1066	.|ENSP00000295903:V1038G;ENSP00000418735:V1066G	.|ENSP00000295903:V1038G	S|V	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64574218|64574218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.849000|0.849000	0.48306|0.48306	8.957000|8.957000	0.93082|0.93082	2.231000|2.231000	0.72958|0.72958	0.533000|0.533000	0.62120|0.62120	TCA|GTC	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.458	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	77	0	A			64599178	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	C	C	64599178	A	C	64599178	3	2	4	1	0	0	0	0	1	0	0	0	273	275	10	4	2682	4	ADAMTS9	3	64599178	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	15908657	64599178	133423252	73	984											
PDZRN3	23024	genome.wustl.edu	37	chr3	73673769	73673769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggataaggcgcttgagcgGcaggacgtggttgagctctt	8	9	17	7	3	1	2	0	2	1	0	1	5	1	4	0	5	2	4	0	5	1	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:73673769G>A	ENST00000263666.4	-	1	322	c.208C>T	c.(208-210)Ccg>Tcg	p.P70S	PDZRN3_ENST00000308537.4_Missense_Mutation_p.P70S|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	70					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGCTTGAGCGGCAGGACGTGG	0.701																																																	0													10	9	9					3																	73673769		2172	4226	6398	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.208C>T	3.37:g.73673769G>A	ENSP00000263666:p.Pro70Ser		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.P70S	ENST00000263666.4	37	c.208	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899059	0.72754	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.16324	2.35;2.35	4.66	3.76	0.43208	Zinc finger, RING/FYVE/PHD-type (1);	0.066029	0.64402	D	0.000009	T	0.39989	0.1099	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.27606	-1.0069	10	0.62326	D	0.03	.	13.675	0.62449	0.0:0.1562:0.8438:0.0	.	70	Q9UPQ7	PZRN3_HUMAN	S	70	ENSP00000263666:P70S;ENSP00000308831:P70S	ENSP00000263666:P70S	P	-	1	0	PDZRN3	73756459	1.000000	0.71417	0.987000	0.45799	0.571000	0.35966	6.890000	0.75633	0.879000	0.35944	0.313000	0.20887	CCG	PDZRN3	-	NULL	ENSG00000121440		0.701	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1		0	85	0	G	XM_041363		73673769	-1			no_errors	ENST00000263666	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	73673769	G	A	73673769	3	1	4	1	0	0	0	0	1	0	0	0	11748	1203	42	3	3032	3	PDZRN3	3	73673769	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	9074591	73673769	124348661	74	985											
TBC1D23	55773	genome.wustl.edu	37	chr3	100039744	100039744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaattacatccaaaaaaaaAcatcctgaactcattacctt	20	10	1	10	0	1	1	1	1	0	0	3	1	3	1	3	0	4	0	3	0	9	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:100039744A>C	ENST00000394144.4	+	18	1954	c.1947A>C	c.(1945-1947)aaA>aaC	p.K649N	TBC1D23_ENST00000344949.5_Missense_Mutation_p.K634N|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.K512N	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	649					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CCAAAAAAAAACATCCTGAAC	0.338																																																	2	Unknown(2)	skin(2)											73	74	74					3																	100039744		2203	4300	6503	SO:0001583	missense	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1947A>C	3.37:g.100039744A>C	ENSP00000377700:p.Lys649Asn		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.K649N	ENST00000394144.4	37	c.1947	CCDS56265.1	3	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216137	0.58452	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.34859	1.34;1.34;1.37	5.25	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	L	0.47716	1.5	0.58432	D	0.999999	D;D	0.67145	0.994;0.996	P;D	0.63793	0.829;0.918	T	0.20840	-1.0263	9	.	.	.	.	10.0527	0.42225	0.7244:0.0:0.2756:0.0	.	649;634	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	N	634;649;512	ENSP00000340693:K634N;ENSP00000377700:K649N;ENSP00000418059:K512N	.	K	+	3	2	TBC1D23	101522434	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.817000	0.27281	0.408000	0.25621	0.533000	0.62120	AAA	TBC1D23	-	NULL	ENSG00000036054		0.338	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	-	0	41	0	A	NM_018309		100039744	1	tier1	-	no_errors	ENST00000394144	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.999	C	C	100039744	A	C	100039744	3	2	4	1	0	0	0	0	1	0	0	0	15660	40	2	4	1968	4	TBC1D23	3	100039744	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	26365975	100039744	97982686	75	986											
KIAA2018	205717	genome.wustl.edu	37	chr3	113377481	113377482	+	Frame_Shift_Ins	INS	-	-	T																															aaagagatgatttctgagggINStttttttttttagcaagatc																								rs78597857		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:113377481_113377482insT	ENST00000478658.1	-	5	3064_3065	c.3047_3048insA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.N1016fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTTCTGAGGGTTTTTTTTTTT	0.366																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)																																								SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3048dupA	3.37:g.113377492_113377492dupT	ENSP00000420721:p.Asn1016fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3048_3047	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.366	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	23	0	-	NM_001009899		113377482	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_ins	14.81	23	4	INS	0.174:0.827	T	T	113377482	-	T	113377481	7	5	4	1	0	1	1	0	0	0	0	0	8295	1252	44	0	3693	0	KIAA2018	3	113377481	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	13337737	113377481	84644949	76	987											
ZBTB20	26137	genome.wustl.edu	37	chr3	114057910	114057910	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgctcgatttggtcaaacTttgctgggcagacggagcag	9	10	13	9	2	1	1	1	0	0	1	2	3	1	2	0	3	4	4	0	3	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:114057910T>G	ENST00000474710.1	-	5	2346	c.2168A>C	c.(2167-2169)aAg>aCg	p.K723T	ZBTB20_ENST00000357258.3_Missense_Mutation_p.K650T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K650T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K650T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K650T|ZBTB20_ENST00000462705.1_Missense_Mutation_p.K650T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.K650T	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	723						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTGGTCAAACTTTGCTGGGCA	0.557																																					NSCLC(69;748 1344 9802 11203 30933)												0													78	76	77					3																	114057910		2203	4300	6503	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2168A>C	3.37:g.114057910T>G	ENSP00000419153:p.Lys723Thr		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K723T	ENST00000474710.1	37	c.2168	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126356	0.56721	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.09911	2.95;2.95;2.95;2.95;2.93;2.95;2.95	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.100067	0.64402	D	0.000002	T	0.16685	0.0401	N	0.10972	0.075	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.34204	-0.9838	10	0.28530	T	0.3	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	723	Q9HC78	ZBT20_HUMAN	T	650;650;650;650;723;650;650	ENSP00000420324:K650T;ENSP00000377375:K650T;ENSP00000418092:K650T;ENSP00000419902:K650T;ENSP00000419153:K723T;ENSP00000349803:K650T;ENSP00000417307:K650T	ENSP00000349803:K650T	K	-	2	0	ZBTB20	115540600	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.103000	0.64578	2.371000	0.80710	0.533000	0.62120	AAG	ZBTB20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181722		0.557	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0	41	0	T	NM_015642		114057910	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	G	G	114057910	T	G	114057910	3	3	4	1	0	0	0	0	1	0	0	0	17577	1609	56	4	61	4	ZBTB20	3	114057910	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	680429	114057910	83964520	77	988											
MUC13	56667	genome.wustl.edu	37	chr3	124632422	124632423	+	Frame_Shift_Ins	INS	-	-	CTCT																															acttaccaacgcagaaagggINSctctgtgggttaggcctttg																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:124632422_124632423insCTCT	ENST00000311075.3	-	7	1105_1106	c.1067_1068insAGAG	c.(1066-1068)agcfs	p.S356fs		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	357	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CGCAGAAAGGGCTCTGTGGGTT	0.421																																																	0																																										SO:0001589	frameshift_variant	0			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1064_1067dupAGAG	3.37:g.124632423_124632426dupCTCT	ENSP00000312235:p.Ser356fs		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.S356fs	ENST00000311075.3	37	c.1068_1067		3																																																																																			MUC13	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom	ENSG00000173702		0.421	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1		0	63	0	-	NM_033049		124632423	-1	tier1		no_errors	ENST00000311075	ensembl	human	known	74_37	frame_shift_ins	16.67	45	9	INS	0.000:0.000	CTCT	CTCT	124632423	-	CTCT	124632422	7	5	4	1	0	1	1	0	0	0	0	0	10009	1194	42	0	487	0	MUC13	3	124632422	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	10574512	124632422	73390008	78	989											
STAG1	10274	genome.wustl.edu	37	chr3	136240195	136240195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggactccaataaattcaCaaaagtttgaacgaaatttt	17	12	5	7	1	2	1	2	1	0	0	3	3	3	2	1	1	1	1	1	1	7	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:136240195C>T	ENST00000383202.2	-	7	792	c.536G>A	c.(535-537)tGt>tAt	p.C179Y	STAG1_ENST00000236698.5_Missense_Mutation_p.C179Y|STAG1_ENST00000480733.1_Missense_Mutation_p.C179Y|STAG1_ENST00000434713.2_De_novo_Start_OutOfFrame	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	179					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AATAAATTCACAAAAGTTTGA	0.368																																																	0													88	89	89					3																	136240195		2203	4300	6503	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.536G>A	3.37:g.136240195C>T	ENSP00000372689:p.Cys179Tyr		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.C179Y	ENST00000383202.2	37	c.536	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700328	0.88924	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000480733	T;T;T	0.43294	1.59;1.59;0.95	5.78	5.78	0.91487	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.77004	0.989;0.979;0.985;0.983	T	0.72693	-0.4216	10	0.35671	T	0.21	.	20.0024	0.97423	0.0:1.0:0.0:0.0	.	196;179;179;179	Q4LE48;C9JJQ0;Q6P275;Q8WVM7	.;.;.;STAG1_HUMAN	Y	179	ENSP00000372689:C179Y;ENSP00000236698:C179Y;ENSP00000420789:C179Y	ENSP00000236698:C179Y	C	-	2	0	STAG1	137722885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.722000	0.93159	0.467000	0.42956	TGT	STAG1	-	pfam_STAG,superfamily_ARM-type_fold	ENSG00000118007		0.368	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	-	0	64	0	C	NM_005862		136240195	-1	tier1	-	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	136240195	C	T	136240195	3	4	4	1	0	0	0	0	1	0	0	0	15289	478	17	3	3352	3	STAG1	3	136240195	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	11607773	136240195	61782235	79	990											
P2RY1	5028	genome.wustl.edu	37	chr3	152553640	152553640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggccggtccgggttcGtcctgggggaacagcacggt	4	9	16	12	4	0	0	0	0	0	0	4	1	3	1	4	6	2	2	4	6	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:152553640G>A	ENST00000305097.3	+	1	905	c.69G>A	c.(67-69)tcG>tcA	p.S23S		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	23					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GTCCGGGTTCGTCCTGGGGGA	0.657																																																	0													34	34	34					3																	152553640		2203	4300	6503	SO:0001819	synonymous_variant	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.69G>A	3.37:g.152553640G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn	p.S23	ENST00000305097.3	37	c.69	CCDS3169.1	3																																																																																			P2RY1	-	NULL	ENSG00000169860		0.657	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	-	0	154	0	G	NM_002563		152553640	1	tier1	-	no_errors	ENST00000305097	ensembl	human	known	74_37	silent	63.41	30	52	SNP	0.001	A	A	152553640	G	A	152553640	2	1	4	1	0	0	0	0	0	0	0	1	11385	1132	40	1		1	P2RY1	3	152553640	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	16313445	152553640	45468790	80	991											
ATP11B	23200	genome.wustl.edu	37	chr3	182584151	182584151	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcactggtgatggtccctgGcaatccaacctggcaccatc	8	9	10	14	0	0	1	0	1	0	0	3	1	2	1	4	4	2	3	4	4	2	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:182584151G>A	ENST00000323116.5	+	14	1799	c.1539G>A	c.(1537-1539)tgG>tgA	p.W513*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	513					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATGGTCCCTGGCAATCCAACC	0.433																																																	0													111	105	107					3																	182584151		2203	4300	6503	SO:0001587	stop_gained	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1539G>A	3.37:g.182584151G>A	ENSP00000321195:p.Trp513*		Q96FN1|Q9UKK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.W513*	ENST00000323116.5	37	c.1539	CCDS33896.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.574084|8.574084	0.98868|0.98868	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.478199	.|0.25264	.|N	.|0.031922	T|.	0.74076|.	0.3669|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.75695|.	-0.3228|.	4|.	.|0.62326	.|D	.|0.03	.|.	14.5144|14.5144	0.67809|0.67809	0.0:0.0:0.8533:0.1467|0.0:0.0:0.8533:0.1467	.|.	.|.	.|.	.|.	D|X	314|513	.|.	.|ENSP00000321195:W513X	G|W	+|+	2|3	0|0	ATP11B|ATP11B	184066845|184066845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	3.112000|3.112000	0.50368|0.50368	2.712000|2.712000	0.92718|0.92718	0.585000|0.585000	0.79938|0.79938	GGC|TGG	ATP11B	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000058063		0.433	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	-	0	58	0	G	NM_014616		182584151	1	tier1	-	no_errors	ENST00000323116	ensembl	human	known	74_37	nonsense	65.91	15	29	SNP	1.000	A	A	182584151	G	A	182584151	4	1	4	1	0	0	0	0	0	1	0	0	1121	1212	42	3	1593	3	ATP11B	3	182584151	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	30030511	182584151	15438279	81	992											
DVL3	1857	genome.wustl.edu	37	chr3	183887840	183887840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatggctccagtggcgcCtctgaccaggacacactggc	8	6	12	15	2	1	1	0	1	1	0	2	3	2	2	3	4	0	1	3	4	0	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:183887840C>T	ENST00000313143.3	+	14	1793	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	DVL3_ENST00000431765.1_Silent_p.A498A|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	515					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCAGTGGCGCCTCTGACCAGG	0.657																																																	0													73	64	67					3																	183887840		2203	4300	6503	SO:0001819	synonymous_variant	0			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1545C>T	3.37:g.183887840C>T			B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3	p.A515	ENST00000313143.3	37	c.1545	CCDS3253.1	3																																																																																			DVL3	-	pfam_Dishevelled_C-dom	ENSG00000161202		0.657	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DVL3	HGNC	protein_coding	OTTHUMT00000346184.1		0	48	0	C	NM_004423		183887840	1			no_errors	ENST00000313143	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.996	T	T	183887840	C	T	183887840	2	4	4	1	0	0	0	0	0	0	0	1	4851	668	24	3		3	DVL3	3	183887840	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1303689	183887840	14134590	82	993											
ECE2	9718	genome.wustl.edu	37	chr3	184005669	184005669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctccaacacggatgaCgcccttggctttgctttggg	6	12	11	12	2	1	1	0	1	1	0	2	2	1	2	2	3	3	3	2	3	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:184005669C>T	ENST00000402825.3	+	11	1662	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	ECE2_ENST00000359140.4_Silent_p.D407D|ECE2_ENST00000357474.5_Silent_p.D482D|ECE2_ENST00000404464.3_Silent_p.D436D|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	554	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACACGGATGACGCCCTTGGCT	0.527																																																	0													136	117	123					3																	184005669		2203	4300	6503	SO:0001819	synonymous_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1662C>T	3.37:g.184005669C>T			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.D554	ENST00000402825.3	37	c.1662	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.527	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0	52	0	C	NM_014693		184005669	1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	silent	32.61	31	15	SNP	0.972	T	T	184005669	C	T	184005669	2	4	4	1	0	0	0	0	0	0	0	1	4904	535	19	1		1	ECE2	3	184005669	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	117829	184005669	14016761	83	994											
C3orf70	285382	genome.wustl.edu	37	chr3	184870467	184870467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgaagcacttgccatGgctgtgcgtggcacagatag	9	9	13	10	1	0	2	0	1	0	1	0	2	0	2	1	2	4	4	1	2	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr3:184870467G>T	ENST00000335012.2	-	1	335	c.145C>A	c.(145-147)Cat>Aat	p.H49N		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	49										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CACTTGCCATGGCTGTGCGTG	0.657																																																	0													34	29	31					3																	184870467		2202	4298	6500	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.145C>A	3.37:g.184870467G>T	ENSP00000334974:p.His49Asn		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.H49N	ENST00000335012.2	37	c.145	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883202	0.91740	.	.	ENSG00000187068	ENST00000335012	.	.	.	3.74	3.74	0.42951	.	0.132195	0.53938	D	0.000057	T	0.63733	0.2536	L	0.27053	0.805	0.80722	D	1	D	0.61080	0.989	D	0.70487	0.969	T	0.69855	-0.5032	9	0.87932	D	0	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	49	A6NLC5	CC070_HUMAN	N	49	.	ENSP00000334974:H49N	H	-	1	0	C3orf70	186353161	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.776000	0.75023	1.916000	0.55485	0.400000	0.26472	CAT	C3orf70	-	NULL	ENSG00000187068		0.657	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	-	0	63	0	G	NM_001025266		184870467	-1	tier1	-	no_errors	ENST00000335012	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	184870467	G	T	184870467	3	4	4	1	0	0	0	0	1	0	0	0	2249	1348	47	3	615	3	C3orf70	3	184870467	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	864798	184870467	13151963	84	995											
RGS12	6002	genome.wustl.edu	37	chr4	3418674	3418674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtttgatagctacactcGctttctgaagtccccgctgt	8	13	9	11	2	1	2	0	2	1	0	3	3	2	2	2	0	2	4	2	0	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:3418674G>A	ENST00000344733.5	+	8	3366	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	RGS12_ENST00000338806.4_Missense_Mutation_p.R173H|RGS12_ENST00000538395.1_Missense_Mutation_p.R163H|RGS12_ENST00000336727.3_Missense_Mutation_p.R821H|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.R219H|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R821H	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	821	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCTACACTCGCTTTCTGAAG	0.592																																																	0													80	82	82					4																	3418674		2203	4300	6503	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2462G>A	4.37:g.3418674G>A	ENSP00000339381:p.Arg821His		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R821H	ENST00000344733.5	37	c.2462	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761895	0.89932	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.02197	4.4;4.4;4.4;4.4;4.4;4.4	4.5	4.5	0.54988	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.998;0.998	D;D;D;D;D;D;D;D;D	0.97110	0.966;0.977;1.0;0.977;0.964;0.984;0.977;0.95;0.916	T	0.41752	-0.9491	10	0.87932	D	0	-30.2359	16.5515	0.84473	0.0:0.0:1.0:0.0	.	163;20;163;20;163;173;219;821;821	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	H	821;821;821;219;173;163	ENSP00000339381:R821H;ENSP00000338509:R821H;ENSP00000372238:R821H;ENSP00000304459:R219H;ENSP00000342133:R173H;ENSP00000438888:R163H	ENSP00000304459:R219H	R	+	2	0	RGS12	3388472	1.000000	0.71417	0.632000	0.29296	0.773000	0.43773	9.378000	0.97191	2.219000	0.72066	0.609000	0.83330	CGC	RGS12	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000159788		0.592	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0	55	0	G	NM_002926		3418674	1	tier1	-	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A	A	3418674	G	A	3418674	3	1	4	1	0	0	0	0	1	0	0	0	13340	1087	38	1	2546	1	RGS12	4	3418674	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		3418674	187735602	85	996											
SLIT2	9353	genome.wustl.edu	37	chr4	20569203	20569203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgtaaacatggaggaacTtgccacttaaaggaaggaga	16	7	11	7	0	0	1	0	0	0	1	0	5	0	4	2	4	3	1	2	4	6	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:20569203T>C	ENST00000504154.1	+	28	3165	c.2913T>C	c.(2911-2913)acT>acC	p.T971T	SLIT2_ENST00000273739.5_Silent_p.T975T|SLIT2_ENST00000503823.1_Silent_p.T963T|SLIT2_ENST00000503837.1_Silent_p.T967T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	971	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGGAGGAACTTGCCACTTAA	0.443																																																	0													150	138	142					4																	20569203		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2913T>C	4.37:g.20569203T>C			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.T971	ENST00000504154.1	37	c.2913	CCDS3426.1	4																																																																																			SLIT2	-	pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000145147		0.443	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	65	0	T			20569203	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.984	C	C	20569203	T	C	20569203	2	2	4	1	0	0	0	0	0	0	0	1	14785	1596	56	4		4	SLIT2	4	20569203	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	17150529	20569203	170585073	86	997											
GABRG1	2565	genome.wustl.edu	37	chr4	46043126	46043126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccttccttccctccaaGatcctgttctgcagtcttca	6	15	5	15	0	3	1	1	0	2	1	8	1	8	1	5	0	1	3	5	0	2	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:46043126G>T	ENST00000295452.4	-	9	1444	c.1277C>A	c.(1276-1278)tCt>tAt	p.S426Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	426					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCCTCCAAGATCCTGTTCT	0.418																																																	0													127	128	128					4																	46043126		2203	4300	6503	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1277C>A	4.37:g.46043126G>T	ENSP00000295452:p.Ser426Tyr		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S426Y	ENST00000295452.4	37	c.1277	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963924	0.74131	.	.	ENSG00000163285	ENST00000295452	D	0.83914	-1.78	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.056249	0.64402	D	0.000001	T	0.81365	0.4807	L	0.39245	1.2	0.53688	D	0.999976	B	0.29188	0.236	B	0.35607	0.206	T	0.80540	-0.1337	10	0.72032	D	0.01	.	18.356	0.90357	0.0:0.0:1.0:0.0	.	426	Q8N1C3	GBRG1_HUMAN	Y	426	ENSP00000295452:S426Y	ENSP00000295452:S426Y	S	-	2	0	GABRG1	45737883	1.000000	0.71417	0.657000	0.29651	0.997000	0.91878	9.767000	0.98960	2.580000	0.87095	0.585000	0.79938	TCT	GABRG1	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000163285		0.418	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	-	0	51	0	G	NM_173536		46043126	-1	tier1	-	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.994	T	T	46043126	G	T	46043126	3	4	4	1	0	0	0	0	1	0	0	0	6195	942	33	3	124	3	GABRG1	4	46043126	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	25473923	46043126	145111150	87	998											
EXOC1	55763	genome.wustl.edu	37	chr4	56756523	56756523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtctgcctctgatctcGatgttgctgacaggaccaaa	10	11	9	11	1	3	2	0	2	3	0	4	4	3	3	2	1	2	2	2	1	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:56756523G>T	ENST00000381295.2	+	12	1858	c.1510G>T	c.(1510-1512)Gat>Tat	p.D504Y	EXOC1_ENST00000346134.7_Missense_Mutation_p.D504Y|EXOC1_ENST00000349598.6_Missense_Mutation_p.D489Y	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	504					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					CTCTGATCTCGATGTTGCTGA	0.378																																																	0													136	120	126					4																	56756523		2203	4300	6503	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1510G>T	4.37:g.56756523G>T	ENSP00000370695:p.Asp504Tyr		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1/SEC3	p.D504Y	ENST00000381295.2	37	c.1510	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724310	0.89298	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.99;0.993	T	0.79562	-0.1752	9	0.72032	D	0.01	.	19.2843	0.94065	0.0:0.0:1.0:0.0	.	489;504	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	Y	504;504;489	.	ENSP00000326514:D504Y	D	+	1	0	EXOC1	56451280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.580000	0.87095	0.655000	0.94253	GAT	EXOC1	-	pfam_Exocyst_Exoc1/SEC3	ENSG00000090989		0.378	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1	-	0	72	0	G	NM_018261		56756523	1	tier1	-	no_errors	ENST00000346134	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	56756523	G	T	56756523	3	4	4	1	0	0	0	0	1	0	0	0	5317	1058	37	2	1552	2	EXOC1	4	56756523	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10713397	56756523	134397753	88	999											
TMPRSS11B	132724	genome.wustl.edu	37	chr4	69100186	69100186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagtcaaatacccatgAgtttaatggaagcaggaact	18	9	8	6	0	1	1	1	1	0	0	1	3	1	3	1	2	3	2	1	2	7	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:69100186A>G	ENST00000332644.5	-	5	625	c.464T>C	c.(463-465)cTc>cCc	p.L155P		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	155	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATACCCATGAGTTTAATGGA	0.313																																																	0													95	94	94					4																	69100186		2203	4300	6503	SO:0001583	missense	0			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.464T>C	4.37:g.69100186A>G	ENSP00000330475:p.Leu155Pro		A8K4D9	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L155P	ENST00000332644.5	37	c.464	CCDS3521.1	4	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986215	0.53934	.	.	ENSG00000185873	ENST00000332644	T	0.38722	1.12	5.16	5.16	0.70880	.	0.436398	0.16942	N	0.193226	T	0.58293	0.2112	L	0.61218	1.895	0.24550	N	0.994029	D	0.71674	0.998	D	0.63488	0.915	T	0.53315	-0.8456	10	0.72032	D	0.01	.	11.65	0.51284	1.0:0.0:0.0:0.0	.	155	Q86T26	TM11B_HUMAN	P	155	ENSP00000330475:L155P	ENSP00000330475:L155P	L	-	2	0	TMPRSS11B	68782781	0.010000	0.17322	0.012000	0.15200	0.091000	0.18340	2.640000	0.46579	2.075000	0.62263	0.533000	0.62120	CTC	TMPRSS11B	-	pirsf_Pept_S1A_HAT/DESC1	ENSG00000185873		0.313	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	HGNC	protein_coding	OTTHUMT00000251431.2	-	0	68	0	A	NM_182502		69100186	-1	tier1	-	no_errors	ENST00000332644	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.020	G	G	69100186	A	G	69100186	3	3	4	1	0	0	0	0	1	0	0	0	16287	304	11	4	810	4	TMPRSS11B	4	69100186	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	12343663	69100186	122054090	89	1000											
MTHFD2L	441024	genome.wustl.edu	37	chr4	75065639	75065639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgccactgccagtgctGtttgggaaataataaaaaga	14	10	9	8	0	0	1	0	0	0	1	0	2	0	2	3	1	4	2	3	1	6	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:75065639G>T	ENST00000395759.2	+	4	607	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	MTHFD2L_ENST00000433372.1_Missense_Mutation_p.V59F|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.V136F|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.V136F	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	194					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGCCAGTGCTGTTTGGGAAAT	0.433																																																	0													86	91	89					4																	75065639		2203	4300	6503	SO:0001583	missense	0			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.580G>T	4.37:g.75065639G>T	ENSP00000379108:p.Val194Phe		Q6P079|Q8N560	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.V194F	ENST00000395759.2	37	c.580	CCDS47075.1	4	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521303	0.85600	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.2	5.2	0.72013	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87196	0.6117	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.987;0.993	D	0.91805	0.5455	10	0.87932	D	0	.	16.2793	0.82664	0.0:0.0:1.0:0.0	.	194;136	Q9H903;Q9H903-3	MTD2L_HUMAN;.	F	59;194;136;136;136	ENSP00000405692:V59F;ENSP00000379108:V194F;ENSP00000330982:V136F;ENSP00000352012:V136F;ENSP00000321984:V136F	ENSP00000321984:V136F	V	+	1	0	MTHFD2L	75284503	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	8.998000	0.93550	2.699000	0.92147	0.655000	0.94253	GTT	MTHFD2L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom	ENSG00000163738		0.433	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		-	0	87	0	G	NM_001004346		75065639	1	tier1	-	no_errors	ENST00000395759	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	75065639	G	T	75065639	3	4	4	1	0	0	0	0	1	0	0	0	9968	1377	48	3	594	3	MTHFD2L	4	75065639	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	5965453	75065639	116088637	90	1001											
NAA11	84779	genome.wustl.edu	37	chr4	80246474	80246474	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggcctcttcagaatcAgaaagtgtgctgccctgggt	9	10	12	10	0	3	3	2	1	1	2	3	3	3	3	2	2	2	1	2	2	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:80246474A>C	ENST00000286794.4	-	1	730	c.558T>G	c.(556-558)tcT>tcG	p.S186S	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	186					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CTTCAGAATCAGAAAGTGTGC	0.552																																																	0													51	52	52					4																	80246474		1951	4151	6102	SO:0001819	synonymous_variant	0				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.558T>G	4.37:g.80246474A>C			Q66K19|Q6P479	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S186	ENST00000286794.4	37	c.558	CCDS47084.1	4																																																																																			NAA11	-	NULL	ENSG00000156269		0.552	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	-	0	75	0	A			80246474	-1	tier1	-	no_errors	ENST00000286794	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.000	C	C	80246474	A	C	80246474	2	2	4	1	0	0	0	0	0	0	0	1	10155	175	7	4		4	NAA11	4	80246474	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	5180835	80246474	110907802	91	1002											
ANTXR2	118429	genome.wustl.edu	37	chr4	80905107	80905107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggccactttttagtaggCaaaggttcttcttcctcctg	6	16	9	10	0	2	0	0	0	2	0	4	0	4	0	3	3	0	4	3	3	3	8			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:80905107C>A	ENST00000307333.7	-	14	1106	c.1104G>T	c.(1102-1104)ttG>ttT	p.L368F	ANTXR2_ENST00000346652.6_Missense_Mutation_p.L265F|ANTXR2_ENST00000404191.1_Missense_Mutation_p.L291F|ANTXR2_ENST00000403729.2_Missense_Mutation_p.L368F	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	368					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTTTAGTAGGCAAAGGTTCTT	0.323									Juvenile Hyaline Fibromatosis																																								0													79	71	73					4																	80905107		1800	4072	5872	SO:0001583	missense	0	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"capillary morphogenesis protein 2"	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1104G>T	4.37:g.80905107C>A	ENSP00000306185:p.Leu368Phe		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A	p.L368F	ENST00000307333.7	37	c.1104	CCDS47086.1	4	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471077	0.43942	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000346652;ENST00000307333	T;T;T;T	0.49720	2.33;0.77;2.29;2.33	5.8	1.51	0.23008	.	0.317702	0.29293	N	0.012573	T	0.62097	0.2400	M	0.76328	2.33	0.80722	D	1	P;D;D	0.89917	0.573;0.999;1.0	B;D;D	0.72338	0.278;0.93;0.977	T	0.58284	-0.7663	10	0.56958	D	0.05	-2.9794	7.6002	0.28071	0.0:0.6123:0.1134:0.2743	.	265;368;368	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	F	368;291;265;368	ENSP00000385575:L368F;ENSP00000384028:L291F;ENSP00000314883:L265F;ENSP00000306185:L368F	ENSP00000306185:L368F	L	-	3	2	ANTXR2	81124131	0.061000	0.20836	0.329000	0.25429	0.768000	0.43524	-0.062000	0.11674	-0.038000	0.13624	0.467000	0.42956	TTG	ANTXR2	-	pirsf_Anthrax_toxin_rcpt	ENSG00000163297		0.323	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	ANTXR2	HGNC	protein_coding	OTTHUMT00000324663.1		0	95	0	C	NM_058172		80905107	-1			no_errors	ENST00000307333	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.375	A	A	80905107	C	A	80905107	3	1	4	1	0	0	0	0	1	0	0	0	712	709	25	3	420	3	ANTXR2	4	80905107	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	658633	80905107	110249169	92	1003											
ADH7	131	genome.wustl.edu	37	chr4	100349749	100349749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaccattgttccttttatCacatggtcatctgtgcgaca	9	14	7	11	1	3	0	2	0	1	0	4	2	4	0	2	1	1	1	2	1	1	4	rs140030816		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:100349749C>T	ENST00000209665.4	-	3	435	c.195G>A	c.(193-195)gtG>gtA	p.V65V	ADH7_ENST00000437033.2_Silent_p.V53V|ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Silent_p.V73V	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	65					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.V65V(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TTCCTTTTATCACATGGTCAT	0.433																																																	1	Substitution - coding silent(1)	skin(1)											232	189	203					4																	100349749		2203	4300	6503	SO:0001819	synonymous_variant	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.195G>A	4.37:g.100349749C>T			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.V65	ENST00000209665.4	37	c.195	CCDS34034.1	4																																																																																			ADH7	-	pfam_ADH_GroES-like,superfamily_GroES-like	ENSG00000196344		0.433	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding			0	52	0	C	NM_000673		100349749	-1			no_errors	ENST00000209665	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.004	T	T	100349749	C	T	100349749	2	4	4	1	0	0	0	0	0	0	0	1	313	813	29	3		3	ADH7	4	100349749	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	19444642	100349749	90804527	93	1004											
NDST3	9348	genome.wustl.edu	37	chr4	118975271	118975271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggaagtgaaagcaatgaAgctttttgatgcctcaagga	15	10	11	5	0	1	3	1	3	0	0	1	5	1	5	1	2	3	2	1	2	6	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:118975271A>G	ENST00000296499.5	+	2	609	c.206A>G	c.(205-207)aAg>aGg	p.K69R	NDST3_ENST00000433996.2_Missense_Mutation_p.K69R	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	69	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAAGCAATGAAGCTTTTTGAT	0.433																																																	0													110	108	109					4																	118975271		2203	4300	6503	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.206A>G	4.37:g.118975271A>G	ENSP00000296499:p.Lys69Arg		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.K69R	ENST00000296499.5	37	c.206	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	A	11.75	1.730654	0.30684	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.45276	1.23;0.9	5.53	1.59	0.23543	.	0.208574	0.39341	N	0.001394	T	0.26629	0.0651	L	0.43554	1.36	0.09310	N	0.999992	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.13407	0.002;0.007;0.009	T	0.19778	-1.0295	10	0.14656	T	0.56	.	4.0749	0.09899	0.6722:0.1285:0.0693:0.13	.	69;69;69	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	R	69	ENSP00000296499:K69R;ENSP00000396625:K69R	ENSP00000296499:K69R	K	+	2	0	NDST3	119194719	0.964000	0.33143	0.003000	0.11579	0.980000	0.70556	1.905000	0.39878	0.038000	0.15604	0.528000	0.53228	AAG	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.433	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0	30	0	A	NM_004784		118975271	1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.433	G	G	118975271	A	G	118975271	3	3	4	1	0	0	0	0	1	0	0	0	10296	72	3	4	208	4	NDST3	4	118975271	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	18625522	118975271	72179005	94	1005											
FAT4	79633	genome.wustl.edu	37	chr4	126411358	126411358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcgcacacgggaaggAcctgtgagatggtggtggcc	9	6	16	10	2	0	2	0	1	0	2	1	5	0	4	2	5	0	1	2	5	1	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:126411358A>G	ENST00000394329.3	+	17	13394	c.13381A>G	c.(13381-13383)Acc>Gcc	p.T4461A	FAT4_ENST00000335110.5_Missense_Mutation_p.T2702A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4461	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACGGGAAGGACCTGTGAGAT	0.627																																																	0													79	72	74					4																	126411358		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13381A>G	4.37:g.126411358A>G	ENSP00000377862:p.Thr4461Ala		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T4461A	ENST00000394329.3	37	c.13381	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	8.727	0.915812	0.17907	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.85861	-2.04;-2.04	5.17	5.17	0.71159	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.299368	0.18146	U	0.150245	T	0.77491	0.4138	L	0.37750	1.13	0.24522	N	0.994156	B;B;B	0.24368	0.058;0.083;0.102	B;B;B	0.24701	0.025;0.024;0.055	T	0.63314	-0.6665	10	0.20519	T	0.43	.	10.3864	0.44143	0.8359:0.1641:0.0:0.0	.	2702;4461;4460	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	4461;2702	ENSP00000377862:T4461A;ENSP00000335169:T2702A	ENSP00000335169:T2702A	T	+	1	0	FAT4	126630808	0.984000	0.35163	0.999000	0.59377	0.352000	0.29268	3.871000	0.56077	1.941000	0.56285	0.459000	0.35465	ACC	FAT4	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000196159		0.627	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	54	0	A	NM_024582		126411358	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.737	G	G	126411358	A	G	126411358	3	3	4	1	0	0	0	0	1	0	0	0	5714	275	10	4	13447	4	FAT4	4	126411358	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	7436087	126411358	64742918	95	1006											
RNF150	57484	genome.wustl.edu	37	chr4	141888806	141888806	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccctggcatttgcatatcGaaacctctggatgtaataaa	13	12	7	9	1	1	0	0	0	1	0	3	2	2	1	2	2	2	3	2	2	5	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:141888806G>A	ENST00000515673.2	-	2	739	c.706C>T	c.(706-708)Cga>Tga	p.R236*	RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000420921.2_Nonsense_Mutation_p.R95*|RNF150_ENST00000507500.1_Nonsense_Mutation_p.R236*|RNF150_ENST00000306799.3_Intron|RNF150_ENST00000379512.2_Nonsense_Mutation_p.R95*			Q9ULK6	RN150_HUMAN	ring finger protein 150	236						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TTTGCATATCGAAACCTCTGG	0.378																																																	0													78	76	76					4																	141888806		2203	4300	6503	SO:0001587	stop_gained	0			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.706C>T	4.37:g.141888806G>A	ENSP00000425840:p.Arg236*		Q3T1D0|Q6ZNW6	Nonsense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R236*	ENST00000515673.2	37	c.706	CCDS34065.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.342044	0.97489	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000515673;ENST00000507500;ENST00000506101	.	.	.	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1327	0.65266	0.0:0.0:0.6354:0.3646	.	.	.	.	X	95;95;236;236;67	.	ENSP00000368827:R95X	R	-	1	2	RNF150	142108256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.467000	0.45093	2.890000	0.99128	0.650000	0.86243	CGA	RNF150	-	NULL	ENSG00000170153		0.378	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	HGNC	protein_coding	OTTHUMT00000364739.2		0	56	0	G	XM_291090		141888806	-1			no_errors	ENST00000515673	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	1.000	A	A	141888806	G	A	141888806	4	1	4	1	0	0	0	0	0	1	0	0	13496	1066	37	1	634	1	RNF150	4	141888806	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	15477448	141888806	49265470	96	1007											
WDR17	116966	genome.wustl.edu	37	chr4	177095823	177095823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgcattactggctatcAgaagacagtaccaaagcatt	13	11	9	8	0	1	2	1	0	0	2	1	2	1	2	1	2	4	4	1	2	5	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:177095823A>G	ENST00000280190.4	+	28	3676	c.3520A>G	c.(3520-3522)Aga>Gga	p.R1174G	WDR17_ENST00000507824.2_Missense_Mutation_p.R1149G|WDR17_ENST00000393643.2_Missense_Mutation_p.R1150G|WDR17_ENST00000508596.1_Missense_Mutation_p.R1135G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1174										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ACTGGCTATCAGAAGACAGTA	0.343																																																	0													138	128	131					4																	177095823		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3520A>G	4.37:g.177095823A>G	ENSP00000280190:p.Arg1174Gly		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R1174G	ENST00000280190.4	37	c.3520	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.26|12.26	1.886009|1.886009	0.33348|0.33348	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.52057	.|0.68;0.68;0.68	5.14|5.14	-1.67|-1.67	0.08238|0.08238	.|.	.|0.119515	.|0.56097	.|N	.|0.000032	T|T	0.31136|0.31136	0.0787|0.0787	L|L	0.39566|0.39566	1.225|1.225	0.38945|0.38945	D|D	0.958239|0.958239	.|B;B;B	.|0.09022	.|0.002;0.0;0.001	.|B;B;B	.|0.06405	.|0.002;0.001;0.002	T|T	0.04128|0.04128	-1.0975|-1.0975	5|10	.|0.52906	.|T	.|0.07	-1.6333|-1.6333	5.6532|5.6532	0.17629|0.17629	0.5244:0.2674:0.2083:0.0|0.5244:0.2674:0.2083:0.0	.|.	.|1150;1135;1174	.|E7EP77;E7EQX0;Q8IZU2	.|.;.;WDR17_HUMAN	R|G	408|1135;1150;1174;1150	.|ENSP00000422763:R1135G;ENSP00000377258:R1150G;ENSP00000280190:R1174G	.|ENSP00000280190:R1174G	Q|R	+|+	2|1	0|2	WDR17|WDR17	177332817|177332817	1.000000|1.000000	0.71417|0.71417	0.525000|0.525000	0.27900|0.27900	0.745000|0.745000	0.42441|0.42441	2.165000|2.165000	0.42396|0.42396	-0.181000|-0.181000	0.10619|0.10619	0.482000|0.482000	0.46254|0.46254	CAG|AGA	WDR17	-	NULL	ENSG00000150627		0.343	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	119	0	A			177095823	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.980	G	G	177095823	A	G	177095823	3	3	4	1	0	0	0	0	1	0	0	0	17326	180	7	4	3626	4	WDR17	4	177095823	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	35207017	177095823	14058453	97	1008											
ACSL1	2180	genome.wustl.edu	37	chr4	185683562	185683562	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaggcggcaacttactGgtaaccattttccaatgtcc	10	11	10	10	1	0	1	0	1	0	0	2	2	2	2	3	4	3	2	3	4	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr4:185683562G>T	ENST00000515030.1	-	17	1962	c.1637C>A	c.(1636-1638)cCa>cAa	p.P546Q	ACSL1_ENST00000513317.1_Splice_Site_p.P546Q|ACSL1_ENST00000437665.3_Splice_Site_p.P375Q|ACSL1_ENST00000507295.1_Splice_Site_p.P512Q|ACSL1_ENST00000454703.2_Splice_Site_p.P375Q|ACSL1_ENST00000281455.2_Splice_Site_p.P546Q|ACSL1_ENST00000504342.1_Splice_Site_p.P546Q			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	546					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCAACTTACTGGTAACCATTT	0.498																																																	0													174	147	156					4																	185683562		2203	4300	6503	SO:0001630	splice_region_variant	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1638+1C>A	4.37:g.185683562G>T			B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P546Q	ENST00000515030.1	37	c.1637	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663720	0.88251	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	T;T;T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68;2.68;2.68	5.45	5.45	0.79879	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.77820	2.39	0.80722	D	1	P;P;P;P	0.50369	0.784;0.934;0.832;0.799	P;P;P;P	0.54889	0.763;0.612;0.612;0.477	T	0.07028	-1.0794	10	0.56958	D	0.05	-11.3029	19.2917	0.94102	0.0:0.0:1.0:0.0	.	512;546;546;536	E7EPM6;B7Z452;P33121;P33121-2	.;.;ACSL1_HUMAN;.	Q	375;546;142;546;512;375;546;546	ENSP00000407165:P375Q;ENSP00000422607:P546Q;ENSP00000425098:P142Q;ENSP00000281455:P546Q;ENSP00000426244:P512Q;ENSP00000405687:P375Q;ENSP00000425006:P546Q;ENSP00000426150:P546Q	ENSP00000281455:P546Q	P	-	2	0	ACSL1	185920556	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.695000	0.98691	2.549000	0.85964	0.655000	0.94253	CCA	ACSL1	-	pfam_AMP-dep_Synth/Lig	ENSG00000151726		0.498	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2		0	67	0	G	NM_001995	Missense_Mutation	185683562	-1			no_errors	ENST00000281455	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	185683562	G	T	185683562	5	4	4	1	0	0	0	0	0	0	1	0	177	1362	47	3	479	3	ACSL1	4	185683562	Splice_Site	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	8587739	185683562	5470714	98	1009											
IRX1	79192	genome.wustl.edu	37	chr5	3600784	3600784	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtcgcccttccagccGgtacgcgacaagtgagtgct	9	9	11	12	4	0	1	0	1	0	0	2	2	1	1	3	1	3	2	3	1	4	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:3600784G>T	ENST00000302006.3	+	3	1426	c.1374G>T	c.(1372-1374)ccG>ccT	p.P458P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	458					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTTCCAGCCGGTACGCGACA	0.632																																																	0													47	51	50					5																	3600784		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1374G>T	5.37:g.3600784G>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.P458	ENST00000302006.3	37	c.1374	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0	80	0	G	NM_024337		3600784	1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	48.05	40	37	SNP	0.956	T	T	3600784	G	T	3600784	2	4	4	1	0	0	0	0	0	0	0	1	7870	1103	39	2		2	IRX1	5	3600784	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		3600784	177314476	99	1010											
CDH18	1016	genome.wustl.edu	37	chr5	19721575	19721575	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacctgtagaacagaggtaCctgtgcattcaggaaaacaa	15	8	9	9	0	2	2	2	0	0	2	2	3	2	3	2	2	4	3	2	2	6	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:19721575C>T	ENST00000507958.1	-	7	1514	c.524G>A	c.(523-525)gGt>gAt	p.G175D	CDH18_ENST00000502796.1_Splice_Site_p.G175D|CDH18_ENST00000506372.1_Splice_Site_p.G175D|CDH18_ENST00000274170.4_Splice_Site_p.G175D|CDH18_ENST00000511273.1_Splice_Site_p.G175D|CDH18_ENST00000382275.1_Splice_Site_p.G175D			Q13634	CAD18_HUMAN	cadherin 18, type 2	175	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACAGAGGTACCTGTGCATTC	0.428																																																	0													122	112	115					5																	19721575		2203	4300	6503	SO:0001630	splice_region_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.524-1G>A	5.37:g.19721575C>T			A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G175D	ENST00000507958.1	37	c.524	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.225626	0.95173	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.82433	2.59	0.80722	D	1	P;D	0.71674	0.92;0.998	P;D	0.71184	0.7;0.972	D	0.84133	0.0413	9	.	.	.	.	17.9639	0.89094	0.0:1.0:0.0:0.0	.	175;175	B4DHG6;Q13634	.;CAD18_HUMAN	D	175;175;175;175;175;175;121;175	ENSP00000371710:G175D;ENSP00000425093:G175D;ENSP00000274170:G175D;ENSP00000424931:G175D;ENSP00000422138:G175D;ENSP00000427383:G121D;ENSP00000425854:G175D	.	G	-	2	0	CDH18	19757332	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.571000	0.86741	0.650000	0.86243	GGT	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000145526		0.428	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0	43	0	C	NM_004934	Missense_Mutation	19721575	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	T	T	19721575	C	T	19721575	5	4	4	1	0	0	0	0	0	0	1	0	3110	521	18	3	1884	3	CDH18	5	19721575	Splice_Site	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	16120791	19721575	161193685	100	1011											
C5orf42	65250	genome.wustl.edu	37	chr5	37176061	37176061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgattgaggagtggtatgCccaggatgtgaaaaggcttc	11	11	14	5	0	0	3	0	3	0	0	1	5	0	5	1	4	1	2	1	4	3	4	rs34161326	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:37176061C>T	ENST00000508244.1	-	30	6021	c.5928G>A	c.(5926-5928)ggG>ggA	p.G1976G	C5orf42_ENST00000425232.2_Silent_p.G1976G|C5orf42_ENST00000274258.7_Silent_p.G856G			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1976						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GAGTGGTATGCCCAGGATGTG	0.328													C|||	2	0.000399361	0	0	5008	,	,		19635	0		0.002	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	206	219	214		5928	2.1	0.4	5	dbSNP_126	214	15,8585	13.3+/-46.6	0,15,4285	no	coding-synonymous	C5orf42	NM_023073.3		0,16,6487	TT,TC,CC		0.1744,0.0227,0.123		1976/3198	37176061	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5928G>A	5.37:g.37176061C>T			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.G1976	ENST00000508244.1	37	c.5928	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0	84	0	C	NM_023073		37176061	-1			no_errors	ENST00000425232	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.212	T	T	37176061	C	T	37176061	2	4	4	1	0	0	0	0	0	0	0	1	2308	726	26	3		3	C5orf42	5	37176061	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	17454486	37176061	143739199	101	1012											
GPR98	84059	genome.wustl.edu	37	chr5	90041004	90041004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccttaattcaagcaagaAtttaatagctctagtgggag	13	12	9	7	0	2	1	1	0	1	1	3	2	3	2	1	1	2	2	1	1	7	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:90041004A>C	ENST00000405460.2	+	51	10787	c.10691A>C	c.(10690-10692)aAt>aCt	p.N3564T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3564	Calx-beta 23. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAGCAAGAATTTAATAGCT	0.383																																																	0													201	191	194					5																	90041004		1832	4084	5916	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10691A>C	5.37:g.90041004A>C	ENSP00000384582:p.Asn3564Thr		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.N3564T	ENST00000405460.2	37	c.10691	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.972|0.972	-0.699704|-0.699704	0.03279|0.03279	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.25085	.|1.82	5.48|5.48	-0.92|-0.92	0.10475|0.10475	.|.	.|0.629040	.|0.18244	.|N	.|0.147142	T|T	0.09202|0.09202	0.0227|0.0227	N|N	0.12182|0.12182	0.205|0.205	0.52099|0.52099	D|D	0.999947|0.999947	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.39781|0.39781	-0.9597|-0.9597	5|10	.|0.02654	.|T	.|1	.|.	6.4257|6.4257	0.21768|0.21768	0.2512:0.3148:0.434:0.0|0.2512:0.3148:0.434:0.0	.|.	.|3564;3564	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	L|T	1130|3564	.|ENSP00000384582:N3564T	.|ENSP00000296619:N3564T	I|N	+|+	1|2	0|0	GPR98|GPR98	90076760|90076760	0.024000|0.024000	0.19004|0.19004	0.892000|0.892000	0.35008|0.35008	0.775000|0.775000	0.43874|0.43874	0.220000|0.220000	0.17660|0.17660	-0.146000|-0.146000	0.11274|0.11274	-0.256000|-0.256000	0.11100|0.11100	ATT|AAT	GPR98	-	NULL	ENSG00000164199		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	53	0	A	NM_032119		90041004	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.642	C	C	90041004	A	C	90041004	3	2	4	1	0	0	0	0	1	0	0	0	6748	101	4	4	10893	4	GPR98	5	90041004	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	52864943	90041004	90874256	102	1013											
C5orf36	285600	genome.wustl.edu	37	chr5	93800647	93800647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtagactcaaagatttctCcagcacttccactagaatct	13	11	5	12	0	3	3	1	0	2	3	5	3	4	3	2	0	1	2	2	0	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:93800647C>T	ENST00000513200.3	-	10	2062	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K	KIAA0825_ENST00000312498.7_Missense_Mutation_p.E664K|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E664K	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	664										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAAGATTTCTCCAGCACTTCC	0.473																																																	0													49	43	44					5																	93800647		692	1591	2283	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.1990G>A	5.37:g.93800647C>T	ENSP00000424618:p.Glu664Lys		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.E664K	ENST00000513200.3	37	c.1990		5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521405	0.85600	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.47177	0.86;0.86;0.85	5.77	5.77	0.91146	.	0.342218	0.27415	N	0.019469	T	0.68439	0.3001	M	0.66939	2.045	0.37325	D	0.909705	D	0.89917	1.0	D	0.71414	0.973	T	0.69741	-0.5063	10	0.46703	T	0.11	.	19.9928	0.97374	0.0:1.0:0.0:0.0	.	664	Q8IV33	K0825_HUMAN	K	664	ENSP00000424618:E664K;ENSP00000400288:E664K;ENSP00000312205:E664K	ENSP00000312205:E664K	E	-	1	0	KIAA0825	93826403	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.420000	0.34804	2.745000	0.94114	0.650000	0.86243	GAG	KIAA0825	-	NULL	ENSG00000185261		0.473	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	-	0	113	0	C	NM_173665		93800647	-1	tier1	-	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	T	T	93800647	C	T	93800647	3	4	4	1	0	0	0	0	1	0	0	0	2302	864	30	3	1881	3	C5orf36	5	93800647	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	3759643	93800647	87114613	103	1014											
CCDC112	153733	genome.wustl.edu	37	chr5	114632127	114632127	+	5'Flank	DEL	T	T	-																															ggttctcccggatttacctgTtgaggcgctggcgtcgctcc																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:114632127delT	ENST00000512261.1	-	0	0				CCDC112_ENST00000506442.1_5'UTR|CCDC112_ENST00000395557.4_5'Flank|CCDC112_ENST00000379611.5_Frame_Shift_Del_p.Q39fs|CCDC112_ENST00000503027.1_5'UTR			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112											endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		GATTTACCTGTTGAGGCGCTG	0.751																																																	0													9	10	10					5																	114632127		2115	4172	6287	SO:0001631	upstream_gene_variant	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894		5.37:g.114632127delT	Exception_encountered		Q6A334	Frame_Shift_Del	DEL	superfamily_Homeodomain-like	p.Q38fs	ENST00000512261.1	37	c.114	CCDS4117.1	5																																																																																			CCDC112	-	NULL	ENSG00000164221		0.751	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1		0	23	0	T	NM_152549		114632127	-1	tier1		no_errors	ENST00000379611	ensembl	human	known	74_37	frame_shift_del	25.00	6	2	DEL	1.000	-	-	114632127	T	-	114632127	6	5	4	0	1	1	0	1	0	0	0	0	2756	1722	60	0		0	CCDC112	5	114632127	5'Flank	DEL	T	TCGA-2H-A9GI-01A-11D-A37C-09	20831480	114632127	66283133	104	1015											
FNIP1	96459	genome.wustl.edu	37	chr5	131034664	131034664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccaaacttctctgactgGcatcagctgatctccggctc	8	11	8	14	1	3	2	1	2	2	0	6	2	3	2	2	2	3	3	2	2	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:131034664G>A	ENST00000510461.1	-	11	1243	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V	FNIP1_ENST00000307968.7_Missense_Mutation_p.A355V|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	383					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.A383V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTCTGACTGGCATCAGCTGA	0.353																																																	1	Substitution - Missense(1)	prostate(1)											145	137	140					5																	131034664		2203	4300	6503	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1148C>T	5.37:g.131034664G>A	ENSP00000421985:p.Ala383Val		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.A383V	ENST00000510461.1	37	c.1148	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384746	0.82792	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.27	5.27	0.74061	.	.	.	.	.	T	0.30792	0.0776	L	0.29908	0.895	0.58432	D	0.999999	B;P;B;B	0.39480	0.29;0.675;0.29;0.234	B;B;B;B	0.41813	0.185;0.367;0.185;0.197	T	0.05099	-1.0906	9	0.49607	T	0.09	-0.4063	19.2391	0.93875	0.0:0.0:1.0:0.0	.	383;383;355;383	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	V	355;338;143;383;383	ENSP00000309266:A355V;ENSP00000310453:A338V;ENSP00000421985:A383V;ENSP00000425619:A383V	ENSP00000310453:A338V	A	-	2	0	FNIP1	131062563	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.091000	0.71406	2.602000	0.87976	0.650000	0.86243	GCC	FNIP1	-	NULL	ENSG00000217128		0.353	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1		0	55	0	G	NM_133372		131034664	-1			no_errors	ENST00000510461	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	131034664	G	A	131034664	3	1	4	1	0	0	0	0	1	0	0	0	5997	1203	42	3	2384	3	FNIP1	5	131034664	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	16402537	131034664	49880596	105	1016											
NRG2	9542	genome.wustl.edu	37	chr5	139422014	139422015	+	Frame_Shift_Ins	INS	-	-	G																															atttttgccgttggtatcgaINSggggggcaaaggccgtctta																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:139422014_139422015insG	ENST00000361474.1	-	1	864_865	c.640_641insC	c.(640-642)ctcfs	p.L214fs	NRG2_ENST00000289409.4_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000545385.1_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000394770.1_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000358522.3_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000541337.1_Frame_Shift_Ins_p.L214fs|NRG2_ENST00000289422.7_Frame_Shift_Ins_p.L214fs	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	214					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTATCGAGGGGGGCAAAG	0.584																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.641dupC	5.37:g.139422020_139422020dupG	ENSP00000354910:p.Leu214fs			Frame_Shift_Ins	INS	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom	p.L214fs	ENST00000361474.1	37	c.641_640	CCDS4217.1	5																																																																																			NRG2	-	NULL	ENSG00000158458		0.584	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1		0	110	0	-	NM_013982		139422015	-1	tier1		no_errors	ENST00000545385	ensembl	human	known	74_37	frame_shift_ins	43.08	37	28	INS	1.000:1.000	G	G	139422015	-	G	139422014	7	5	4	1	0	1	1	0	0	0	0	0	10687	304	11	0	2042	0	NRG2	5	139422014	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	8387350	139422014	41493246	106	1017											
ITK	3702	genome.wustl.edu	37	chr5	156608060	156608060	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaagaacttctccctcGaactttaaagtccgcttctt	12	12	6	11	2	2	2	0	0	2	2	5	4	3	2	2	0	2	1	2	0	6	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:156608060G>T	ENST00000422843.3	+	1	224	c.72G>T	c.(70-72)tcG>tcT	p.S24S		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	24	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.S24S(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTTCTCCCTCGAACTTTAAAG	0.423			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	large_intestine(1)											115	107	110					5																	156608060		2203	4300	6503	SO:0001819	synonymous_variant	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.72G>T	5.37:g.156608060G>T			B2R752|Q32ML7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S24	ENST00000422843.3	37	c.72	CCDS4336.1	5																																																																																			ITK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113263		0.423	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	50	0	G			156608060	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.020	T	T	156608060	G	T	156608060	2	4	4	1	0	0	0	0	0	0	0	1	7936	1045	37	2		2	ITK	5	156608060	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	17186046	156608060	24307200	107	1018											
GABRA6	2559	genome.wustl.edu	37	chr5	161117260	161117260	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaaggaagatgggctacTtcatgatacagatatacact	15	10	9	7	0	1	3	1	1	0	2	1	4	1	4	0	2	4	2	0	2	6	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:161117260T>G	ENST00000274545.5	+	7	1160	c.727T>G	c.(727-729)Ttc>Gtc	p.F243V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.F233V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	243					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F243I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATGGGCTACTTCATGATACA	0.403										TCGA Ovarian(5;0.080)																																							1	Substitution - Missense(1)	lung(1)											170	151	157					5																	161117260		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.727T>G	5.37:g.161117260T>G	ENSP00000274545:p.Phe243Val		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.F243V	ENST00000274545.5	37	c.727	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.417147	0.83449	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000523691	D;D;D	0.86097	-2.07;-2.07;-2.07	5.31	5.31	0.75309	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.047153	0.85682	D	0.000000	D	0.90817	0.7116	M	0.82823	2.61	0.58432	D	0.999999	D	0.56287	0.975	P	0.55161	0.77	D	0.92339	0.5880	10	0.87932	D	0	.	15.2733	0.73723	0.0:0.0:0.0:1.0	.	243	Q16445	GBRA6_HUMAN	V	243;233;163	ENSP00000274545:F243V;ENSP00000430527:F233V;ENSP00000427989:F163V	ENSP00000274545:F243V	F	+	1	0	GABRA6	161049838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.946000	0.87746	2.016000	0.59253	0.533000	0.62120	TTC	GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000145863		0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0	88	0	T			161117260	1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	35.29	33	18	SNP	1.000	G	G	161117260	T	G	161117260	3	3	4	1	0	0	0	0	1	0	0	0	6189	1609	56	4	753	4	GABRA6	5	161117260	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	4509200	161117260	19798000	108	1019											
LCP2	3937	genome.wustl.edu	37	chr5	169695469	169695470	+	Frame_Shift_Ins	INS	-	-	C																															ggaggctgctggggggttttINScccagaggggggccggtctg																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr5:169695469_169695470insC	ENST00000046794.5	-	8	1155_1156	c.540_541insG	c.(538-543)gggaaafs	p.K181fs	LCP2_ENST00000521416.1_5'Flank	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	181					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TGGGGGGTTTTCCCAGAGGGGG	0.639											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.541dupG	5.37:g.169695472_169695472dupC	ENSP00000046794:p.Lys181fs	1879	A8KA25|Q53XV4	Frame_Shift_Ins	INS	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.K180fs	ENST00000046794.5	37	c.541_540	CCDS47339.1	5																																																																																			LCP2	-	NULL	ENSG00000043462		0.639	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1		0	57	0	0	NM_005565		169695470	-1			no_errors	ENST00000046794	ensembl	human	known	74_37	frame_shift_ins	10.34	52	6	INS	0.099:0.088	C	C	169695470	-	C	169695469	7	5	4	1	0	1	1	0	0	0	0	0	8720	1792	62	0	1116	0	LCP2	5	169695469	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	8578209	169695469	11219791	109	1020											
SERPINB9	5272	genome.wustl.edu	37	chr6	2890645	2890645	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacaagtcagccttgccctGttggaaggcatcaacaattc	11	9	9	12	1	2	0	2	0	0	0	3	2	2	1	2	2	3	2	2	2	4	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:2890645G>A	ENST00000380698.4	-	7	972	c.883C>T	c.(883-885)Cag>Tag	p.Q295*		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	295					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCCTTGCCCTGTTGGAAGGCA	0.468																																																	0													117	111	113					6																	2890645		2203	4300	6503	SO:0001587	stop_gained	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.883C>T	6.37:g.2890645G>A	ENSP00000370074:p.Gln295*		B2RBW3|Q5TD03	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.Q295*	ENST00000380698.4	37	c.883	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541022	0.65085	.	.	ENSG00000170542	ENST00000380698	.	.	.	4.53	-0.587	0.11690	.	1.320840	0.04879	N	0.447338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	7.2122	0.25939	0.0747:0.4689:0.3509:0.1054	.	.	.	.	X	295	.	ENSP00000370074:Q295X	Q	-	1	0	SERPINB9	2835644	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.070000	0.03440	0.043000	0.15746	0.563000	0.77884	CAG	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	ENSG00000170542		0.468	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	-	0	71	0	G			2890645	-1	tier1	-	no_errors	ENST00000380698	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.000	A	A	2890645	G	A	2890645	4	1	4	1	0	0	0	0	0	1	0	0	14153	1386	48	3	251	3	SERPINB9	6	2890645	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		2890645	168224422	110	1021											
RIPK1	8737	genome.wustl.edu	37	chr6	3078089	3078089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtgaagctcctgggcGtcatcatagaggaagggaag	10	7	18	6	1	2	2	2	1	0	1	3	4	3	4	1	5	1	1	1	5	4	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:3078089G>A	ENST00000259808.4	+	3	539	c.241G>A	c.(241-243)Gtc>Atc	p.V81I	RIPK1_ENST00000541791.1_Missense_Mutation_p.V81I|RIPK1_ENST00000380409.2_Missense_Mutation_p.V81I|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	81	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> I (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.V81I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCTCCTGGGCGTCATCATAGA	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											94	78	83					6																	3078089		2203	4300	6503	SO:0001583	missense	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.241G>A	6.37:g.3078089G>A	ENSP00000259808:p.Val81Ile		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V81I	ENST00000259808.4	37	c.241	CCDS4482.1	6	.	.	.	.	.	.	.	.	.	.	G	14.44	2.537501	0.45176	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;D;T	0.83992	-0.15;-1.79;-0.15	5.61	-11.2	0.00127	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.736920	0.13963	N	0.350701	T	0.31888	0.0811	N	0.05351	-0.065	0.25169	N	0.990299	B;P	0.35307	0.108;0.494	B;B	0.26416	0.009;0.069	T	0.40496	-0.9560	10	0.23302	T	0.38	-4.775	9.7305	0.40359	0.1186:0.0806:0.6089:0.1919	.	81;81	Q13546-2;Q13546	.;RIPK1_HUMAN	I	81	ENSP00000259808:V81I;ENSP00000442294:V81I;ENSP00000369773:V81I	ENSP00000259808:V81I	V	+	1	0	RIPK1	3023088	0.000000	0.05858	0.227000	0.23927	0.865000	0.49528	-0.450000	0.06803	-1.560000	0.01686	-0.302000	0.09304	GTC	RIPK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000137275		0.582	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2		0	53	0	G	NM_003804		3078089	1			no_errors	ENST00000259808	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.058	A	A	3078089	G	A	3078089	3	1	4	1	0	0	0	0	1	0	0	0	13425	1145	40	1	247	1	RIPK1	6	3078089	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	187444	3078089	168036978	111	1022											
DSP	1832	genome.wustl.edu	37	chr6	7585192	7585192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgatctccttgaaaaatgGtgtcggcaccagcagcagca	12	8	10	11	1	1	2	0	2	1	0	3	2	1	2	2	2	3	4	2	2	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:7585192G>A	ENST00000379802.3	+	24	8038	c.7697G>A	c.(7696-7698)gGt>gAt	p.G2566D	DSP_ENST00000418664.2_Missense_Mutation_p.G1967D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2566	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGAAAAATGGTGTCGGCACC	0.493																																																	0													97	94	95					6																	7585192		2203	4300	6503	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7697G>A	6.37:g.7585192G>A	ENSP00000369129:p.Gly2566Asp		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.G2566D	ENST00000379802.3	37	c.7697	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104347	0.56291	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74209	-0.51;-0.82	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000004	T	0.56171	0.1967	L	0.36672	1.1	0.26331	N	0.977515	D;B	0.60575	0.988;0.141	P;B	0.46940	0.532;0.019	T	0.54443	-0.8293	10	0.18276	T	0.48	.	15.5827	0.76459	0.0:0.0:1.0:0.0	.	2014;2566	Q4LE79;P15924	.;DESP_HUMAN	D	2566;1967	ENSP00000369129:G2566D;ENSP00000396591:G1967D	ENSP00000369129:G2566D	G	+	2	0	DSP	7530191	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	3.401000	0.52601	2.746000	0.94184	0.655000	0.94253	GGT	DSP	-	NULL	ENSG00000096696		0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	-	0	58	0	G	NM_004415		7585192	1	tier1	-	no_errors	ENST00000379802	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.998	A	A	7585192	G	A	7585192	3	1	4	1	0	0	0	0	1	0	0	0	4795	1261	44	3	7791	3	DSP	6	7585192	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4507103	7585192	163529875	112	1023											
MYLIP	29116	genome.wustl.edu	37	chr6	16146915	16146915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccgtctgcaggtcgcGtgtggagcatgtccagcacg	6	9	14	12	4	1	0	0	0	1	0	4	1	3	1	2	2	3	3	2	2	0	0	rs199758517		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:16146915G>A	ENST00000356840.3	+	7	1469	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	U3_ENST00000515984.1_RNA|MYLIP_ENST00000349606.4_Missense_Mutation_p.R243H	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGCAGGTCGCGTGTGGAGCAT	0.527																																																	0													185	140	155					6																	16146915		2203	4300	6503	SO:0001583	missense	0			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1271G>A	6.37:g.16146915G>A	ENSP00000349298:p.Arg424His		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R424H	ENST00000356840.3	37	c.1271	CCDS4536.1	6	.	.	.	.	.	.	.	.	.	.	G	4.178	0.031525	0.08101	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	T;T	0.78707	-1.2;-1.2	5.5	-3.77	0.04346	Zinc finger, RING/FYVE/PHD-type (1);	0.620548	0.18313	N	0.145028	T	0.32615	0.0835	N	0.11724	0.165	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23762	-1.0179	10	0.44086	T	0.13	.	8.1665	0.31230	0.2807:0.243:0.4763:0.0	.	424	Q8WY64	MYLIP_HUMAN	H	424;243	ENSP00000349298:R424H;ENSP00000008686:R243H	ENSP00000008686:R243H	R	+	2	0	MYLIP	16254894	0.004000	0.15560	0.000000	0.03702	0.110000	0.19582	0.749000	0.26320	-1.324000	0.02272	-2.964000	0.00082	CGT	MYLIP	-	NULL	ENSG00000007944		0.527	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLIP	HGNC	protein_coding	OTTHUMT00000043864.1	-	0	76	0	G	NM_013262		16146915	1	tier1	rs199758517	no_errors	ENST00000356840	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	A	A	16146915	G	A	16146915	3	1	4	1	0	0	0	0	1	0	0	0	10093	1145	40	1	1297	1	MYLIP	6	16146915	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	8561723	16146915	154968152	113	1024											
FAM8A1	51439	genome.wustl.edu	37	chr6	17606169	17606169	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggggcttcgagttgTgacatgtgatacatcagtgc	7	12	13	9	1	1	2	1	2	0	0	2	3	1	2	1	2	3	3	1	2	1	3	rs141659233		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:17606169T>A	ENST00000259963.3	+	4	1077	c.1022T>A	c.(1021-1023)gTg>gAg	p.V341E		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	341	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CTTCGAGTTGTGACATGTGAT	0.423																																																	0													145	128	134					6																	17606169		2203	4300	6503	SO:0001583	missense	0			AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1022T>A	6.37:g.17606169T>A	ENSP00000259963:p.Val341Glu		B2R725	Missense_Mutation	SNP	pfam_RDD	p.V341E	ENST00000259963.3	37	c.1022	CCDS4540.1	6	.	.	.	.	.	.	.	.	.	.	T	29.6	5.021705	0.93462	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.75	5.75	0.90469	RDD (1);	0.061431	0.64402	D	0.000005	T	0.77096	0.4080	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81556	-0.0879	9	0.87932	D	0	-16.8719	16.0563	0.80809	0.0:0.0:0.0:1.0	.	341	Q9UBU6	FA8A1_HUMAN	E	91;341	.	ENSP00000259963:V341E	V	+	2	0	FAM8A1	17714148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.644000	0.83416	2.183000	0.69458	0.528000	0.53228	GTG	FAM8A1	-	pfam_RDD	ENSG00000137414		0.423	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM8A1	HGNC	protein_coding	OTTHUMT00000039950.1		0	66	0	T			17606169	1			no_errors	ENST00000259963	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	17606169	T	A	17606169	3	1	4	1	0	0	0	0	1	0	0	0	5671	1696	59	5	1036	5	FAM8A1	6	17606169	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	1459254	17606169	153508898	114	1025											
PRL	5617	genome.wustl.edu	37	chr6	22287671	22287671	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattcggcacttcaggagcTtgagataattgtcgatttta	10	15	10	6	2	1	2	1	2	0	1	3	5	1	3	0	2	1	2	0	2	2	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:22287671T>C	ENST00000306482.1	-	5	1162	c.644A>G	c.(643-645)aAg>aGg	p.K215R	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	215					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTTCAGGAGCTTGAGATAATT	0.453																																																	0													283	249	260					6																	22287671		2203	4300	6503	SO:0001583	missense	0			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.644A>G	6.37:g.22287671T>C	ENSP00000302150:p.Lys215Arg		Q15199|Q92996	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.K215R	ENST00000306482.1	37	c.644	CCDS4548.1	6	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994454	0.74703	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.89939	-2.59	5.66	5.66	0.87406	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.040904	0.85682	D	0.000000	D	0.92485	0.7614	M	0.72118	2.19	0.80722	D	1	B;D	0.71674	0.015;0.998	B;D	0.77004	0.241;0.989	D	0.91783	0.5437	10	0.39692	T	0.17	-19.7393	16.2026	0.82095	0.0:0.0:0.0:1.0	.	215;216	P01236;Q5I0G2	PRL_HUMAN;.	R	215;184	ENSP00000302150:K215R	ENSP00000302150:K215R	K	-	2	0	PRL	22395650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.461000	0.66699	2.285000	0.76669	0.533000	0.62120	AAG	PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000172179		0.453	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	-	0	49	0	T	NM_000948		22287671	-1	tier1	-	no_errors	ENST00000306482	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	C	C	22287671	T	C	22287671	3	2	4	1	0	0	0	0	1	0	0	0	12570	1609	56	4	43	4	PRL	6	22287671	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	4681502	22287671	148827396	115	1026											
GPLD1	2822	genome.wustl.edu	37	chr6	24433598	24433598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatacttacttcaggaGaaatcaatacatattgggcc	15	10	9	7	0	2	1	2	0	0	1	2	3	2	2	1	3	3	0	1	3	7	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:24433598G>T	ENST00000230036.1	-	23	2488	c.2378C>A	c.(2377-2379)tCt>tAt	p.S793Y		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	793					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TACTTCAGGAGAAATCAATAC	0.303																																																	0													91	101	98					6																	24433598		2203	4300	6503	SO:0001583	missense	0			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.2378C>A	6.37:g.24433598G>T	ENSP00000230036:p.Ser793Tyr		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.S793Y	ENST00000230036.1	37	c.2378	CCDS4553.1	6	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767480	0.69878	.	.	ENSG00000112293	ENST00000230036	T	0.73258	-0.73	4.7	4.7	0.59300	.	0.081162	0.52532	D	0.000061	T	0.77758	0.4178	M	0.73962	2.25	0.80722	D	1	D	0.57257	0.979	P	0.57371	0.819	T	0.79690	-0.1698	10	0.56958	D	0.05	-18.2452	17.7732	0.88499	0.0:0.0:1.0:0.0	.	793	P80108	PHLD_HUMAN	Y	793	ENSP00000230036:S793Y	ENSP00000230036:S793Y	S	-	2	0	GPLD1	24541577	1.000000	0.71417	0.968000	0.41197	0.968000	0.65278	5.856000	0.69518	2.596000	0.87737	0.655000	0.94253	TCT	GPLD1	-	prints_Gprt_PLipase_D	ENSG00000112293		0.303	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	-	0	116	0	G	NM_001503		24433598	-1	tier1	-	no_errors	ENST00000230036	ensembl	human	known	74_37	missense	55.56	52	65	SNP	1.000	T	T	24433598	G	T	24433598	3	4	4	1	0	0	0	0	1	0	0	0	6640	942	33	3	156	3	GPLD1	6	24433598	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	2145927	24433598	146681469	116	1027											
GMNN	51053	genome.wustl.edu	37	chr6	24780905	24780905	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagaatagttctgtcccAagaagaactctgaagatgat	14	13	8	6	0	2	6	0	2	2	4	3	6	3	6	1	0	1	1	1	0	7	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:24780905A>G	ENST00000230056.3	+	3	398	c.66A>G	c.(64-66)ccA>ccG	p.P22P	GMNN_ENST00000356509.3_Silent_p.P22P	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	22					mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						GTTCTGTCCCAAGAAGAACTC	0.368																																																	0													112	107	108					6																	24780905		2203	4300	6503	SO:0001819	synonymous_variant	0			AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.66A>G	6.37:g.24780905A>G			B3KMM8|Q9H1Z1	Silent	SNP	pfam_Geminin_fam	p.P22	ENST00000230056.3	37	c.66	CCDS4560.1	6																																																																																			GMNN	-	pfam_Geminin_fam	ENSG00000112312		0.368	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMNN	HGNC	protein_coding	OTTHUMT00000040021.2	-	0	50	0	A	NM_015895		24780905	1	tier1	-	no_errors	ENST00000230056	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.999	G	G	24780905	A	G	24780905	2	3	4	1	0	0	0	0	0	0	0	1	6519	117	5	4		4	GMNN	6	24780905	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	347307	24780905	146334162	117	1028											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834947	27834947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgccttcttggctttggGcttggcttccccggaggccg	1	12	14	14	2	1	0	0	0	1	0	2	1	2	1	5	5	1	3	5	5	0	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:27834947G>A	ENST00000331442.3	-	1	412	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	121					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGCTTTGGGCTTGGCTTCC	0.597																																																	0													83	98	93					6																	27834947		2203	4300	6503	SO:0001583	missense	0			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.361C>T	6.37:g.27834947G>A	ENSP00000330074:p.Pro121Ser		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.P121S	ENST00000331442.3	37	c.361	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421635	0.25639	.	.	ENSG00000184357	ENST00000331442	T	0.14266	2.52	5.43	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.274773	0.25019	N	0.033766	T	0.08447	0.0210	M	0.63843	1.955	0.43814	D	0.996373	B	0.34103	0.437	B	0.32090	0.14	T	0.09357	-1.0678	10	0.22706	T	0.39	-22.4595	16.1014	0.81175	0.0:0.186:0.814:0.0	.	121	P16401	H15_HUMAN	S	121	ENSP00000330074:P121S	ENSP00000330074:P121S	P	-	1	0	HIST1H1B	27942926	1.000000	0.71417	0.972000	0.41901	0.147000	0.21601	2.633000	0.46519	2.716000	0.92895	0.655000	0.94253	CCC	HIST1H1B	-	NULL	ENSG00000184357		0.597	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	-	0	67	0	G	NM_005322		27834947	-1	tier1	-	no_errors	ENST00000331442	ensembl	human	known	74_37	missense	20.00	60	15	SNP	1.000	A	A	27834947	G	A	27834947	3	1	4	1	0	0	0	0	1	0	0	0	7150	1203	42	3	323	3	HIST1H1B	6	27834947	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	3054042	27834947	143280120	118	1029											
OR2B3	442184	genome.wustl.edu	37	chr6	29054257	29054257	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtggttgaagatacatatAaatggctgttccataaaaga	16	11	10	4	0	0	3	0	1	0	2	1	3	1	3	1	3	1	3	1	3	7	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:29054257A>C	ENST00000377173.2	-	1	833	c.769T>G	c.(769-771)Tat>Gat	p.Y257D		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATACATATAAATGGCTGTT	0.438																																																	0													95	78	83					6																	29054257		2203	4300	6503	SO:0001583	missense	0				CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"GPCR / Class A : Olfactory receptors"	8238	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 3 pseudogene"	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.769T>G	6.37:g.29054257A>C	ENSP00000366378:p.Tyr257Asp		B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y257D	ENST00000377173.2	37	c.769	CCDS34358.1	6	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607921	0.46527	.	.	ENSG00000204703	ENST00000377173	T	0.00123	8.7	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36854	U	0.002380	T	0.00144	0.0004	M	0.83223	2.63	0.09310	N	0.999993	P	0.45634	0.863	P	0.52514	0.701	T	0.02774	-1.1112	10	0.66056	D	0.02	.	8.0721	0.30695	0.819:0.0:0.0:0.181	.	257	O76000	OR2B3_HUMAN	D	257	ENSP00000366378:Y257D	ENSP00000366378:Y257D	Y	-	1	0	OR2B3	29162236	0.002000	0.14202	0.846000	0.33378	0.894000	0.52154	1.698000	0.37794	1.381000	0.46364	0.467000	0.42956	TAT	OR2B3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204703		0.438	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B3	HGNC	protein_coding	OTTHUMT00000076469.2	-	0	30	0	A			29054257	-1	tier1	-	no_errors	ENST00000377173	ensembl	human	known	74_37	missense	53.33	14	16	SNP	0.397	C	C	29054257	A	C	29054257	3	2	4	1	0	0	0	0	1	0	0	0	11029	362	13	4	176	4	OR2B3	6	29054257	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	1219310	29054257	142060810	119	1030											
PHF1	5252	genome.wustl.edu	37	chr6	33380096	33380097	+	Frame_Shift_Ins	INS	-	-	T																															tcctcactttgggacccagcINSttctcctgctcccacctctg																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:33380096_33380097insT	ENST00000374516.3	+	2	327_328	c.56_57insT	c.(55-60)gcttctfs	p.S20fs	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Frame_Shift_Ins_p.S20fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	20					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TGGGACCCAGCTTCTCCTGCTC	0.614																																																	0																																										SO:0001589	frameshift_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.58dupT	6.37:g.33380098_33380098dupT	ENSP00000363640:p.Ser20fs		B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S20fs	ENST00000374516.3	37	c.56_57	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.614	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3		0	67	0	-			33380097	1	tier1		no_errors	ENST00000374516	ensembl	human	known	74_37	frame_shift_ins	15.66	70	13	INS	0.147:0.340	T	T	33380097	-	T	33380096	7	5	4	1	0	1	1	0	0	0	0	0	11859	797	28	0	58	0	PHF1	6	33380096	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	4325839	33380096	137734971	120	1031											
IP6K3	117283	genome.wustl.edu	37	chr6	33694507	33694507	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagggggatggcaaggataCgatgccgcttgttctctggg	7	10	17	7	2	1	1	0	1	1	0	2	4	1	3	1	5	2	3	1	5	2	3	rs565789067		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:33694507C>T	ENST00000293756.4	-	4	916		c.e4+1		IP6K3_ENST00000451316.1_Splice_Site	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3						inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GGCAAGGATACGATGCCGCTT	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		19167	0		0	False		,,,				2504	0																0													83	75	77					6																	33694507		2203	4300	6503	SO:0001630	splice_region_variant	0			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.589+1G>A	6.37:g.33694507C>T			Q96MQ9	Splice_Site	SNP	-	e3+1	ENST00000293756.4	37	c.589+1	CCDS34435.1	6	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391504	0.42410	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	.	.	.	5.24	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7983	0.63184	0.0:0.9255:0.0:0.0745	.	.	.	.	.	-1	.	.	.	-	.	.	IP6K3	33802485	1.000000	0.71417	0.999000	0.59377	0.212000	0.24457	5.636000	0.67848	1.218000	0.43458	0.462000	0.41574	.	IP6K3	-	-	ENSG00000161896		0.617	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1	-	0	91	0	C	NM_054111	Intron	33694507	-1	tier1	-	no_errors	ENST00000293756	ensembl	human	known	74_37	splice_site	6.31	104	7	SNP	1.000	T	T	33694507	C	T	33694507	5	4	4	1	0	0	0	0	0	0	1	0	7817	550	19	1	654	1	IP6K3	6	33694507	Splice_Site	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	314411	33694507	137420560	121	1032											
GRM4	2914	genome.wustl.edu	37	chr6	34003813	34003813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcggggctgatgaagcGtggggcactgaccgagcgct	7	6	19	9	4	0	4	0	4	0	0	0	5	0	4	1	5	2	3	1	5	1	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:34003813G>A	ENST00000538487.2	-	9	2517	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C	GRM4_ENST00000455714.2_Missense_Mutation_p.R552C|GRM4_ENST00000374181.4_Missense_Mutation_p.R692C|GRM4_ENST00000609222.1_Missense_Mutation_p.R559C|GRM4_ENST00000544773.2_Missense_Mutation_p.R523C|GRM4_ENST00000535756.1_Missense_Mutation_p.R559C|GRM4_ENST00000374177.3_Missense_Mutation_p.R576C|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	692					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGATGAAGCGTGGGGCACTG	0.617																																																	0													122	131	128					6																	34003813		2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2074C>T	6.37:g.34003813G>A	ENSP00000440556:p.Arg692Cys		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.R692C	ENST00000538487.2	37	c.2074	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842614	0.71488	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	4.89	4.02	0.46733	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	M	0.83774	2.66	0.80722	D	1	B;B;D;D;B	0.89917	0.389;0.167;1.0;0.999;0.133	B;B;P;P;B	0.62014	0.083;0.053;0.897;0.828;0.052	D	0.93668	0.6987	10	0.87932	D	0	.	14.7465	0.69492	0.0:0.0:0.8544:0.1456	.	645;523;552;692;559	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	692;576;384;559;523;692;552	ENSP00000363296:R692C;ENSP00000363292:R576C;ENSP00000445533:R384C;ENSP00000437925:R559C;ENSP00000437730:R523C;ENSP00000440556:R692C;ENSP00000398456:R552C	ENSP00000363292:R576C	R	-	1	0	GRM4	34111791	0.864000	0.29904	0.998000	0.56505	0.944000	0.59088	2.825000	0.48096	1.272000	0.44329	0.462000	0.41574	CGC	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000124493		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0	39	0	G			34003813	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	37.21	27	16	SNP	0.978	A	A	34003813	G	A	34003813	3	1	4	1	0	0	0	0	1	0	0	0	6826	1145	40	1	676	1	GRM4	6	34003813	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	309306	34003813	137111254	122	1033											
KLHL31	401265	genome.wustl.edu	37	chr6	53516583	53516583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttctcgccctcgttcCagccccccaccaggtaggcg	5	9	8	19	3	2	0	0	0	2	0	5	0	3	0	6	2	1	2	6	2	1	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:53516583C>T	ENST00000407079.1	-	2	1717	c.1718G>A	c.(1717-1719)tGg>tAg	p.W573*	KLHL31_ENST00000370905.3_Nonsense_Mutation_p.W573*			Q9H511	KLH31_HUMAN	kelch-like family member 31	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GCCCTCGTTCCAGCCCCCCAC	0.687																																																	0													66	60	62					6																	53516583		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"Kelch-like", "BTB/POZ domain containing"	21353	protein-coding gene	gene with protein product		610749	"kelch repeat and BTB (POZ) domain containing 1", "kelch-like 31 (Drosophila)"	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.1718G>A	6.37:g.53516583C>T	ENSP00000384644:p.Trp573*		A6N9J2|B2RP49	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W573*	ENST00000407079.1	37	c.1718	CCDS34478.1	6	.	.	.	.	.	.	.	.	.	.	C	38	6.754681	0.97813	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	.	.	.	X	573	.	ENSP00000359942:W573X	W	-	2	0	KLHL31	53624542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.078000	0.71282	2.884000	0.98904	0.655000	0.94253	TGG	KLHL31	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000124743		0.687	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL31	HGNC	protein_coding	OTTHUMT00000040965.1	-	0	56	0	C	NM_001003760		53516583	-1	tier1	-	no_errors	ENST00000370905	ensembl	human	known	74_37	nonsense	67.27	18	37	SNP	1.000	T	T	53516583	C	T	53516583	4	4	4	1	0	0	0	0	0	1	0	0	8412	595	21	3	190	3	KLHL31	6	53516583	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	19512770	53516583	117598484	123	1034											
PRSS35	167681	genome.wustl.edu	37	chr6	84233305	84233305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccatctcaccagccccGcatttgaggcagatgctaag	9	10	8	14	1	1	2	1	1	1	1	3	2	2	2	4	1	2	3	4	1	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:84233305G>A	ENST00000369700.3	+	2	322	c.145G>A	c.(145-147)Gca>Aca	p.A49T	PRSS35_ENST00000536636.1_Missense_Mutation_p.A49T	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	49						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CACCAGCCCCGCATTTGAGGC	0.463																																																	0													134	132	133					6																	84233305		2203	4300	6503	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.145G>A	6.37:g.84233305G>A	ENSP00000358714:p.Ala49Thr		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.A49T	ENST00000369700.3	37	c.145	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.483468	0.01027	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.42131	0.98;0.98	5.33	-3.81	0.04294	.	1.003210	0.08029	N	0.993230	T	0.03011	0.0089	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34725	-0.9817	10	0.10902	T	0.67	-5.1424	4.7476	0.13045	0.4513:0.0:0.3262:0.2225	.	49	Q8N3Z0	PRS35_HUMAN	T	49	ENSP00000440870:A49T;ENSP00000358714:A49T	ENSP00000358714:A49T	A	+	1	0	PRSS35	84290024	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	0.024000	0.13555	-0.979000	0.03529	-1.456000	0.01031	GCA	PRSS35	-	NULL	ENSG00000146250		0.463	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	-	0	68	0	G	NM_153362		84233305	1	tier1	-	no_errors	ENST00000369700	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	A	A	84233305	G	A	84233305	3	1	4	1	0	0	0	0	1	0	0	0	12666	1087	38	1	147	1	PRSS35	6	84233305	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	30716722	84233305	86881762	124	1035											
SNAP91	9892	genome.wustl.edu	37	chr6	84265929	84265929	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgctggaggtttcttGggactctgactggcaggtgt	4	15	14	8	0	2	1	0	1	2	0	3	3	3	3	1	5	1	3	1	5	0	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:84265929G>T	ENST00000439399.2	-	29	2983	c.2667C>A	c.(2665-2667)ccC>ccA	p.P889P	SNAP91_ENST00000520302.1_Silent_p.P859P|SNAP91_ENST00000437520.1_Silent_p.P582P|SNAP91_ENST00000520213.1_Silent_p.P582P|SNAP91_ENST00000428679.2_Silent_p.P889P|SNAP91_ENST00000369694.2_Silent_p.P889P|SNAP91_ENST00000195649.6_Silent_p.P884P|SNAP91_ENST00000521485.1_Silent_p.P884P|SNAP91_ENST00000521743.1_Silent_p.P889P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	889	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAGGTTTCTTGGGACTCTGAC	0.448																																																	0													76	71	73					6																	84265929		1869	4108	5977	SO:0001819	synonymous_variant	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2667C>A	6.37:g.84265929G>T			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P889	ENST00000439399.2	37	c.2667	CCDS47455.1	6																																																																																			SNAP91	-	NULL	ENSG00000065609		0.448	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1		0	51	0	G			84265929	-1			no_errors	ENST00000369694	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	84265929	G	T	84265929	2	4	4	1	0	0	0	0	0	0	0	1	14878	1335	47	3		3	SNAP91	6	84265929	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	32624	84265929	86849138	125	1036											
GRIK2	2898	genome.wustl.edu	37	chr6	102134068	102134068	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcaggacctctttgctcTtgatgttgagccctaccgat	6	15	8	12	1	3	2	1	2	2	0	3	4	3	3	3	1	3	2	3	1	1	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:102134068T>G	ENST00000421544.1	+	6	1281	c.791T>G	c.(790-792)cTt>cGt	p.L264R	GRIK2_ENST00000369138.1_Missense_Mutation_p.L264R|GRIK2_ENST00000369137.3_Missense_Mutation_p.L264R|GRIK2_ENST00000358361.3_Missense_Mutation_p.L264R|GRIK2_ENST00000413795.1_Missense_Mutation_p.L264R|GRIK2_ENST00000369134.4_Missense_Mutation_p.L215R|GRIK2_ENST00000318991.6_Missense_Mutation_p.L264R	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	264					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CTCTTTGCTCTTGATGTTGAG	0.368																																																	0													80	74	76					6																	102134068		2203	4300	6503	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.791T>G	6.37:g.102134068T>G	ENSP00000397026:p.Leu264Arg		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L264R	ENST00000421544.1	37	c.791	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433824	0.83776	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076	T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	T	0.48277	0.1491	M	0.83774	2.66	0.51012	D	0.999905	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.993	T	0.56329	-0.7997	10	0.87932	D	0	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	264;264;264	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	R	264;264;264;264;264;264;264;215;226	ENSP00000397026:L264R;ENSP00000405596:L264R;ENSP00000358134:L264R;ENSP00000351128:L264R;ENSP00000358133:L264R;ENSP00000313276:L264R;ENSP00000358130:L215R	ENSP00000313276:L264R	L	+	2	0	GRIK2	102240761	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.697000	0.84279	2.228000	0.72767	0.533000	0.62120	CTT	GRIK2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000164418		0.368	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0	50	0	T			102134068	1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	G	G	102134068	T	G	102134068	3	3	4	1	0	0	0	0	1	0	0	0	6801	1609	56	4	813	4	GRIK2	6	102134068	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	17868139	102134068	68980999	126	1037											
ROS1	6098	genome.wustl.edu	37	chr6	117632255	117632255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacaggtctacaaggtcaAccaaggtgagtaaaggacca	16	5	10	10	0	2	1	1	1	1	0	2	2	2	2	2	4	2	1	2	4	6	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:117632255A>C	ENST00000368508.3	-	39	6359	c.6161T>G	c.(6160-6162)gTt>gGt	p.V2054G	ROS1_ENST00000368507.3_Missense_Mutation_p.V2048G	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2054	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TACAAGGTCAACCAAGGTGAG	0.343			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													120	113	115					6																	117632255		2203	4300	6503	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6161T>G	6.37:g.117632255A>C	ENSP00000357494:p.Val2054Gly		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V2054G	ENST00000368508.3	37	c.6161	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427701	0.43122	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.82433	-1.61;-1.61	5.85	-1.95	0.07548	.	0.853339	0.10304	N	0.690845	T	0.45357	0.1338	N	0.05280	-0.08	0.38950	D	0.95833	B	0.27013	0.166	B	0.28916	0.096	T	0.12319	-1.0552	10	0.35671	T	0.21	.	7.0405	0.25017	0.5246:0.0:0.361:0.1144	.	2054	P08922	ROS1_HUMAN	G	2054;2048	ENSP00000357494:V2054G;ENSP00000357493:V2048G	ENSP00000357493:V2048G	V	-	2	0	ROS1	117738948	0.982000	0.34865	0.996000	0.52242	0.974000	0.67602	0.259000	0.18405	-0.101000	0.12219	-0.263000	0.10527	GTT	ROS1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000047936		0.343	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1		0	40	0	A			117632255	-1			no_errors	ENST00000368508	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.753	C	C	117632255	A	C	117632255	3	2	4	1	0	0	0	0	1	0	0	0	13576	43	2	4	902	4	ROS1	6	117632255	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	15498187	117632255	53482812	127	1038											
ECHDC1	55862	genome.wustl.edu	37	chr6	127652116	127652116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaagtgacaatcctgtttGatgtagcaattttgtccttc	11	16	7	7	0	0	2	0	2	0	0	3	2	2	2	2	0	1	3	2	0	5	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:127652116G>C	ENST00000531967.1	-	2	579	c.76C>G	c.(76-78)Caa>Gaa	p.Q26E	ECHDC1_ENST00000430841.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000368291.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000309620.9_Missense_Mutation_p.Q20E|ECHDC1_ENST00000368289.2_Missense_Mutation_p.Q20E|ECHDC1_ENST00000454859.3_Missense_Mutation_p.Q20E|ECHDC1_ENST00000474289.2_Missense_Mutation_p.Q20E	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	26						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AATCCTGTTTGATGTAGCAAT	0.383																																																	0													79	77	78					6																	127652116		2203	4300	6503	SO:0001583	missense	0			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"enoyl Coenzyme A hydratase domain containing 1"			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.76C>G	6.37:g.127652116G>C	ENSP00000436585:p.Gln26Glu		A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.Q26E	ENST00000531967.1	37	c.76	CCDS47471.1	6	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437381	0.25900	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368290;ENST00000474289;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582	T;T;T;T;T;T	0.63096	-0.01;-0.02;-0.01;0.84;-0.01;0.91	5.96	5.07	0.68467	.	0.512237	0.22338	N	0.061368	T	0.44030	0.1274	L	0.60455	1.87	0.09310	N	1	P;B	0.35612	0.512;0.129	B;B	0.32677	0.15;0.058	T	0.46456	-0.9190	10	0.56958	D	0.05	-11.8541	16.1255	0.81392	0.0:0.0:0.8615:0.1385	.	20;26	Q5TEF6;Q9NTX5	.;ECHD1_HUMAN	E	20;26;20;20;20;20;20;20;20;20;20	ENSP00000401751:Q20E;ENSP00000436585:Q26E;ENSP00000434908:Q20E;ENSP00000311115:Q20E;ENSP00000402492:Q20E;ENSP00000435502:Q20E	ENSP00000311115:Q20E	Q	-	1	0	ECHDC1	127693809	0.531000	0.26338	0.004000	0.12327	0.560000	0.35617	2.452000	0.44961	1.463000	0.47967	0.650000	0.86243	CAA	ECHDC1	-	NULL	ENSG00000093144		0.383	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	-	0	41	0	G			127652116	-1	tier1	-	no_errors	ENST00000531967	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.042	C	C	127652116	G	C	127652116	3	2	4	1	0	0	0	0	1	0	0	0	4907	1299	45	5	867	5	ECHDC1	6	127652116	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10019861	127652116	43462951	128	1039											
PTPRK	5796	genome.wustl.edu	37	chr6	128298110	128298110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcacaatggaggtacaGccataatcatacactaatct	17	9	5	10	0	3	0	2	0	1	0	3	1	3	1	1	2	4	1	1	2	6	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:128298110G>A	ENST00000368215.3	-	26	3797	c.3798C>T	c.(3796-3798)ggC>ggT	p.G1266G	PTPRK_ENST00000368227.3_Silent_p.G1284G|PTPRK_ENST00000368210.3_Silent_p.G1285G|PTPRK_ENST00000368213.5_Silent_p.G1273G|PTPRK_ENST00000368207.3_Silent_p.G1299G|PTPRK_ENST00000532331.1_Silent_p.G1289G|PTPRK_ENST00000368226.4_Silent_p.G1267G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1266	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGAGGTACAGCCATAATCAT	0.393																																																	0													140	129	133					6																	128298110		2203	4300	6503	SO:0001819	synonymous_variant	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3798C>T	6.37:g.128298110G>A			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G1284	ENST00000368215.3	37	c.3852		6																																																																																			PTPRK	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152894		0.393	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0	64	0	G			128298110	-1	tier1	-	no_errors	ENST00000368227	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	A	A	128298110	G	A	128298110	2	1	4	1	0	0	0	0	0	0	0	1	12850	958	34	3		3	PTPRK	6	128298110	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	645994	128298110	42816957	129	1040											
PHACTR2	9749	genome.wustl.edu	37	chr6	144033170	144033170	+	Frame_Shift_Del	DEL	G	G	-																															cagttgacggactggacaaaGcttctatagcaaactcagat																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:144033170delG	ENST00000427704.2	+	2	161	c.31delG	c.(31-33)gctfs	p.A11fs	PHACTR2_ENST00000440869.2_Frame_Shift_Del_p.A22fs|PHACTR2_ENST00000397980.3_Frame_Shift_Del_p.A22fs|PHACTR2_ENST00000367582.3_Frame_Shift_Del_p.A22fs|PHACTR2_ENST00000367584.4_Frame_Shift_Del_p.A79fs|PHACTR2_ENST00000305766.6_Frame_Shift_Del_p.A11fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	11							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACTGGACAAAGCTTCTATAGC	0.413																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0													149	147	148					6																	144033170		1859	4098	5957	SO:0001589	frameshift_variant	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.31delG	6.37:g.144033170delG	ENSP00000391763:p.Ala11fs		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Frame_Shift_Del	DEL	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.A22fs	ENST00000427704.2	37	c.64	CCDS47492.1	6																																																																																			PHACTR2	-	NULL	ENSG00000112419		0.413	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2		0	86	0	G	NM_014721		144033170	1	tier1		no_errors	ENST00000440869	ensembl	human	known	74_37	frame_shift_del	16.67	60	12	DEL	1.000	-	-	144033170	G	-	144033170	7	5	4	1	0	1	0	1	0	0	0	0	11849	971	34	0	87	0	PHACTR2	6	144033170	Frame_Shift_Del	DEL	G	TCGA-2H-A9GI-01A-11D-A37C-09	15735060	144033170	27081897	130	1041											
GRM1	2911	genome.wustl.edu	37	chr6	146720714	146720714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcctgagaggaatgtcCgcagtgccttcaccacctct	9	8	9	15	1	2	1	1	1	1	1	3	3	3	2	6	1	2	1	6	1	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:146720714C>T	ENST00000282753.1	+	7	2774	c.2539C>T	c.(2539-2541)Cgc>Tgc	p.R847C	GRM1_ENST00000492807.2_Missense_Mutation_p.R847C|GRM1_ENST00000392299.2_Missense_Mutation_p.R847C|GRM1_ENST00000355289.4_Missense_Mutation_p.R847C|GRM1_ENST00000507907.1_Missense_Mutation_p.R847C|GRM1_ENST00000361719.2_Missense_Mutation_p.R847C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	847					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GAGGAATGTCCGCAGTGCCTT	0.512																																																	0													106	87	93					6																	146720714		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2539C>T	6.37:g.146720714C>T	ENSP00000282753:p.Arg847Cys		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.R847C	ENST00000282753.1	37	c.2539	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130361	0.77549	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89617	-2.51;-2.54;-2.54;-2.51;-2.54;-2.54	5.68	5.68	0.88126	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.94389	0.7612	10	0.72032	D	0.01	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	847;847;847	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	C	847	ENSP00000354896:R847C;ENSP00000376119:R847C;ENSP00000424095:R847C;ENSP00000282753:R847C;ENSP00000347437:R847C;ENSP00000425599:R847C	ENSP00000282753:R847C	R	+	1	0	GRM1	146762407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.686000	0.91538	0.585000	0.79938	CGC	GRM1	-	pfscan_GPCR_3_C	ENSG00000152822		0.512	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	54	0	C	NM_000838		146720714	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	22.67	58	17	SNP	1.000	T	T	146720714	C	T	146720714	3	4	4	1	0	0	0	0	1	0	0	0	6823	652	23	1	2565	1	GRM1	6	146720714	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	2687544	146720714	24394353	131	1042											
SYNE1	23345	genome.wustl.edu	37	chr6	152765647	152765647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagccagaaattaattcttCgagagaatttttgactattt	14	15	7	5	1	1	4	0	1	1	3	2	6	1	4	1	0	1	0	1	0	4	7	rs138915528	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr6:152765647C>T	ENST00000367255.5	-	30	4337	c.3736G>A	c.(3736-3738)Gaa>Aaa	p.E1246K	SYNE1_ENST00000367253.4_Missense_Mutation_p.E1246K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1236K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1312K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1246K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1253K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1253K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1246K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1246					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTAATTCTTCGAGAGAATTT	0.348										HNSCC(10;0.0054)			C|||	2	0.000399361	8e-04	0	5008	,	,		17824	0.001		0	False		,,,				2504	0																0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	81	81	81		3757,3736	5.1	1	6	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_033071.3,NM_182961.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1253/8750,1246/8798	152765647	1,13005	2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3736G>A	6.37:g.152765647C>T	ENSP00000356224:p.Glu1246Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1246K	ENST00000367255.5	37	c.3736	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269292	0.59540	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.88277	0.6;0.59;0.5;0.59;0.67;-2.21;-2.36;-2.36	5.96	5.09	0.68999	.	0.091297	0.47093	N	0.000245	T	0.79736	0.4497	M	0.66939	2.045	0.80722	D	1	B;P;B;B;P;P	0.50943	0.137;0.9;0.117;0.092;0.9;0.94	B;B;B;B;B;B	0.42062	0.028;0.13;0.025;0.033;0.13;0.374	T	0.78866	-0.2035	10	0.13853	T	0.58	.	11.2371	0.48946	0.0:0.8606:0.0:0.1394	.	1229;1246;1236;1246;1246;1253	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1246;1253;1246;1253;1312;1246;1236;1246	ENSP00000356224:E1246K;ENSP00000396024:E1253K;ENSP00000265368:E1246K;ENSP00000390975:E1253K;ENSP00000341887:E1312K;ENSP00000356222:E1246K;ENSP00000356217:E1236K;ENSP00000414510:E1246K	ENSP00000265368:E1246K	E	-	1	0	SYNE1	152807340	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	3.589000	0.53972	1.528000	0.49103	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	97	0	C	NM_182961		152765647	-1	tier1	rs138915528	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	35.00	52	28	SNP	1.000	T	T	152765647	C	T	152765647	3	4	4	1	0	0	0	0	1	0	0	0	15492	893	31	1	23198	1	SYNE1	6	152765647	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	6044933	152765647	18349420	132	1043											
USP42	84132	genome.wustl.edu	37	chr7	6196639	6196639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaacgaaacacttacGgatggaaagcagggatgaca	18	5	12	6	2	0	2	0	2	0	1	0	7	0	5	0	3	4	1	0	3	5	1	rs368427289		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:6196639G>A	ENST00000306177.5	+	16	4054	c.3896G>A	c.(3895-3897)cGg>cAg	p.R1299Q		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1299					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AAACACTTACGGATGGAAAGC	0.502																																																	0								G	GLN/ARG	0,3832		0,0,1916	36	37	37		3896	4.9	0.3	7		37	1,8237		0,1,4118	no	missense	USP42	NM_032172.2	43	0,1,6034	AA,AG,GG		0.0121,0.0,0.0083	benign	1299/1317	6196639	1,12069	1916	4119	6035	SO:0001583	missense	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3896G>A	7.37:g.6196639G>A	ENSP00000301962:p.Arg1299Gln		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R1299Q	ENST00000306177.5	37	c.3896	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169615	0.38315	0.0	1.21E-4	ENSG00000106346	ENST00000306177	T	0.19938	2.11	5.78	4.91	0.64330	.	0.108687	0.38164	N	0.001800	T	0.14917	0.0360	L	0.27053	0.805	0.09310	N	1	B;B;B	0.20164	0.042;0.015;0.009	B;B;B	0.17098	0.017;0.011;0.005	T	0.15925	-1.0420	10	0.52906	T	0.07	.	9.138	0.36886	0.1646:0.0:0.8354:0.0	.	1195;1299;1299	A4D2N7;Q9H9J4-2;Q9H9J4	.;.;UBP42_HUMAN	Q	1299	ENSP00000301962:R1299Q	ENSP00000301962:R1299Q	R	+	2	0	USP42	6163164	0.974000	0.33945	0.254000	0.24359	0.586000	0.36452	2.410000	0.44592	1.469000	0.48083	-0.137000	0.14449	CGG	USP42	-	NULL	ENSG00000106346		0.502	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	-	0	58	0	G	XM_166526		6196639	1	tier1	-	no_errors	ENST00000306177	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.199	A	A	6196639	G	A	6196639	3	1	4	1	0	0	0	0	1	0	0	0	17122	1116	39	1	2510	1	USP42	7	6196639	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		6196639	152942024	133	1044											
IGF2BP3	10643	genome.wustl.edu	37	chr7	23391117	23391117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctcggggctgctgcaaggGgttttgctgggcggccattt	4	11	16	10	2	0	0	0	0	0	0	1	0	0	0	2	6	3	5	2	6	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:23391117G>T	ENST00000258729.3	-	6	846	c.490C>A	c.(490-492)Ccc>Acc	p.P164T	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	164					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TGCTGCAAGGGGTTTTGCTGG	0.527																																																	0													37	42	40					7																	23391117		2203	4300	6503	SO:0001583	missense	0			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.490C>A	7.37:g.23391117G>T	ENSP00000258729:p.Pro164Thr		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.P164T	ENST00000258729.3	37	c.490	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254815	0.22965	.	.	ENSG00000136231	ENST00000258729	T	0.14391	2.51	5.55	-2.22	0.06952	.	0.344032	0.38492	N	0.001673	T	0.07369	0.0186	L	0.36672	1.1	0.28154	N	0.929263	B	0.23540	0.087	B	0.23716	0.048	T	0.16305	-1.0407	10	0.41790	T	0.15	-23.0552	0.8303	0.01129	0.253:0.3063:0.2345:0.2062	.	164	O00425	IF2B3_HUMAN	T	164	ENSP00000258729:P164T	ENSP00000258729:P164T	P	-	1	0	IGF2BP3	23357642	0.621000	0.27077	0.016000	0.15963	0.603000	0.37013	0.286000	0.18902	-0.369000	0.08028	0.555000	0.69702	CCC	IGF2BP3	-	NULL	ENSG00000136231		0.527	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2		0	47	0	G	NM_006547		23391117	-1			no_errors	ENST00000258729	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.038	T	T	23391117	G	T	23391117	3	4	4	1	0	0	0	0	1	0	0	0	7602	1232	43	3	1289	3	IGF2BP3	7	23391117	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	17194478	23391117	135747546	134	1045											
TBX20	57057	genome.wustl.edu	37	chr7	35244122	35244122	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcatcccccaagacatcTtcttctcctccgtaggtacg	7	12	5	17	2	4	1	1	0	4	1	8	1	6	1	4	1	1	2	4	1	3	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:35244122T>G	ENST00000408931.3	-	7	1489	c.963A>C	c.(961-963)gaA>gaC	p.E321D		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	321					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCAAGACATCTTCTTCTCCTC	0.498																																																	0													80	76	77					7																	35244122		1941	4143	6084	SO:0001583	missense	0			AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"T-boxes"	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.963A>C	7.37:g.35244122T>G	ENSP00000386170:p.Glu321Asp		A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E321D	ENST00000408931.3	37	c.963	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846406	0.32606	.	.	ENSG00000164532	ENST00000408931	D	0.88201	-2.35	5.51	-2.26	0.06867	.	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	N	0.24115	0.695	0.40941	D	0.984469	B	0.02656	0.0	B	0.04013	0.001	T	0.51332	-0.8719	10	0.11485	T	0.65	.	1.2405	0.01962	0.2462:0.3357:0.092:0.3262	.	321	Q9UMR3	TBX20_HUMAN	D	321	ENSP00000386170:E321D	ENSP00000386170:E321D	E	-	3	2	TBX20	35210647	0.995000	0.38212	0.859000	0.33776	0.994000	0.84299	0.432000	0.21461	-0.802000	0.04421	-0.285000	0.09966	GAA	TBX20	-	NULL	ENSG00000164532		0.498	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	HGNC	protein_coding	OTTHUMT00000216870.2	-	0	71	0	T	NM_020417		35244122	-1	tier1	-	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	51.85	26	28	SNP	0.981	G	G	35244122	T	G	35244122	3	3	4	1	0	0	0	0	1	0	0	0	15703	1606	56	4	387	4	TBX20	7	35244122	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	11853005	35244122	123894541	135	1046											
TXNDC3	51314	genome.wustl.edu	37	chr7	37924817	37924817	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaacaattactgggaccaAgaactgttgaagaagccatt	16	8	10	7	0	0	3	0	1	0	2	0	5	0	5	2	2	4	1	2	2	7	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:37924817A>C	ENST00000199447.4	+	14	1582	c.1210A>C	c.(1210-1212)Aga>Cga	p.R404R	NME8_ENST00000440017.1_Silent_p.R404R|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	404	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACTGGGACCAAGAACTGTTGA	0.383																																																	0													90	81	84					7																	37924817		2203	4300	6503	SO:0001819	synonymous_variant	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1210A>C	7.37:g.37924817A>C			Q9NZH1	Silent	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.R404	ENST00000199447.4	37	c.1210	CCDS5452.1	7																																																																																			NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.383	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	81	0	A	NM_016616		37924817	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	silent	22.06	53	15	SNP	0.898	C	C	37924817	A	C	37924817	2	2	4	1	0	0	0	0	0	0	0	1	16847	64	3	4		4	TXNDC3	7	37924817	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	2680695	37924817	121213846	136	1047											
GLI3	2737	genome.wustl.edu	37	chr7	42004239	42004239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacctggggaaagtaactCagagtttttggcgctggtcc	9	10	13	9	1	1	1	1	0	0	1	2	2	2	2	2	4	2	4	2	4	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:42004239C>T	ENST00000395925.3	-	15	4516	c.4432G>A	c.(4432-4434)Gag>Aag	p.E1478K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1478					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GAAAGTAACTCAGAGTTTTTG	0.522									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													75	69	71					7																	42004239		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4432G>A	7.37:g.42004239C>T	ENSP00000379258:p.Glu1478Lys		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1478K	ENST00000395925.3	37	c.4432	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132658	0.37630	.	.	ENSG00000106571	ENST00000395925	T	0.13420	2.59	5.88	5.88	0.94601	.	0.157963	0.56097	D	0.000025	T	0.09730	0.0239	N	0.22421	0.69	0.80722	D	1	B	0.18863	0.031	B	0.12156	0.007	T	0.14117	-1.0484	10	0.07990	T	0.79	.	15.6948	0.77488	0.0:0.8639:0.1361:0.0	.	1478	P10071	GLI3_HUMAN	K	1478	ENSP00000379258:E1478K	ENSP00000379258:E1478K	E	-	1	0	GLI3	41970764	1.000000	0.71417	0.974000	0.42286	0.870000	0.49936	4.185000	0.58330	2.774000	0.95407	0.655000	0.94253	GAG	GLI3	-	NULL	ENSG00000106571		0.522	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	42	0	C	NM_000168		42004239	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	40.48	25	17	SNP	0.998	T	T	42004239	C	T	42004239	3	4	4	1	0	0	0	0	1	0	0	0	6465	835	29	3	314	3	GLI3	7	42004239	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	4079422	42004239	117134424	137	1048											
GLI3	2737	genome.wustl.edu	37	chr7	42079837	42079837	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctggagaatctggtGcctgttatataaacaaaaaa	14	10	11	6	0	1	1	0	0	1	1	1	2	1	1	1	4	2	2	1	4	8	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:42079837G>T	ENST00000395925.3	-	7	912	c.828C>A	c.(826-828)agC>agA	p.S276R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	276					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGAATCTGGTGCCTGTTATAT	0.458									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													95	92	93					7																	42079837		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.827-1C>A	7.37:g.42079837G>T			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S276R	ENST00000395925.3	37	c.828	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177576	0.57692	.	.	ENSG00000106571	ENST00000395925	T	0.70749	-0.51	5.96	5.09	0.68999	.	0.117593	0.85682	D	0.000000	T	0.70605	0.3243	L	0.50333	1.59	0.80722	D	1	P	0.48016	0.904	P	0.46362	0.514	T	0.73078	-0.4096	10	0.52906	T	0.07	.	15.2226	0.73324	0.0671:0.0:0.9329:0.0	.	276	P10071	GLI3_HUMAN	R	276	ENSP00000379258:S276R	ENSP00000379258:S276R	S	-	3	2	GLI3	42046362	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.845000	0.27668	1.538000	0.49270	-0.140000	0.14226	AGC	GLI3	-	NULL	ENSG00000106571		0.458	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3		0	40	0	G	NM_000168	Missense_Mutation	42079837	-1			no_errors	ENST00000395925	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	42079837	G	T	42079837	5	4	4	1	0	0	0	0	0	0	1	0	6465	1333	46	3	3950	3	GLI3	7	42079837	Splice_Site	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	75598	42079837	117058826	138	1049											
ZP3	7784	genome.wustl.edu	37	chr7	76069838	76069838	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgtcaatgctgtaacAaaggtgactgtggcactcca	12	10	9	10	0	2	1	1	1	1	0	3	1	3	1	1	2	2	3	1	2	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:76069838A>T	ENST00000394857.3	+	7	1028	c.970A>T	c.(970-972)Aaa>Taa	p.K324*	ZP3_ENST00000336517.4_Nonsense_Mutation_p.K273*|ZP3_ENST00000416245.1_Nonsense_Mutation_p.K148*|ZP3_ENST00000467555.1_3'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	324					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGCTGTAACAAAGGTGACTG	0.527																																																	0													97	101	99					7																	76069838		2203	4300	6503	SO:0001587	stop_gained	0			M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"Zona pellucida glycoproteins"	13189	protein-coding gene	gene with protein product		182889	"zona pellucida glycoprotein 3A (sperm receptor)"	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.970A>T	7.37:g.76069838A>T	ENSP00000378326:p.Lys324*		Q06633|Q29RW0	Nonsense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.K324*	ENST00000394857.3	37	c.970	CCDS47618.1	7	.	.	.	.	.	.	.	.	.	.	a	18.09	3.545854	0.65198	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121;ENST00000416245	.	.	.	4.96	-2.17	0.07059	.	0.317042	0.32357	U	0.006208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.2314	1.0105	0.01496	0.4377:0.1526:0.2621:0.1475	.	.	.	.	X	273;324;324;148	.	ENSP00000337310:K273X	K	+	1	0	ZP3	75907774	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.336000	0.19823	-0.554000	0.06150	0.459000	0.35465	AAA	ZP3	-	NULL	ENSG00000188372		0.527	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP3	HGNC	protein_coding	OTTHUMT00000253004.1	-	0	88	0	A			76069838	1	tier1	-	no_errors	ENST00000394857	ensembl	human	known	74_37	nonsense	16.00	63	12	SNP	0.000	T	T	76069838	A	T	76069838	4	4	4	1	0	0	0	0	0	1	0	0	18265	131	5	5	996	5	ZP3	7	76069838	Nonsense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	33990001	76069838	83068825	139	1050											
POMZP3	22932	genome.wustl.edu	37	chr7	76240862	76240862	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgccacagtcaccttTgttacagcattgacagatgt	10	12	10	9	0	1	2	1	1	0	1	1	3	1	3	2	1	3	2	2	1	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:76240862T>A	ENST00000310842.4	-	6	1168	c.484A>T	c.(484-486)Aaa>Taa	p.K162*	UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	162										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CAGTCACCTTTGTTACAGCAT	0.532																																																	0													78	80	79					7																	76240862		2202	4291	6493	SO:0001587	stop_gained	0			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"POM-ZP3 fusion protein", "POM121/ZP3 fusion protein"	600587	"POM (POM121 rat homolog) and ZP3 fusion", "POM (POM121 homolog, rat) and ZP3 fusion"			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.484A>T	7.37:g.76240862T>A	ENSP00000309233:p.Lys162*		F6STJ3|Q12903|Q9BWB4	Nonsense_Mutation	SNP	pfam_ZP_dom	p.K162*	ENST00000310842.4	37	c.484	CCDS43606.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	16.86|16.86	3.239718|3.239718	0.58995|0.58995	.|.	.|.	ENSG00000146707|ENSG00000146707	ENST00000310842|ENST00000441393	.|.	.|.	.|.	0.786|0.786	-1.57|-1.57	0.08506|0.08506	.|.	0.865604|.	0.10039|.	U|.	0.723659|.	.|T	.|0.26738	.|0.0654	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33189	.|-0.9878	.|3	0.06365|.	T|.	0.9|.	.|.	3.461|3.461	0.07532|0.07532	0.0:0.0:0.4259:0.5741|0.0:0.0:0.4259:0.5741	.|.	.|.	.|.	.|.	X|L	162|98	.|.	ENSP00000309233:K162X|.	K|Q	-|-	1|2	0|0	POMZP3|POMZP3	76078798|76078798	0.866000|0.866000	0.29940|0.29940	0.879000|0.879000	0.34478|0.34478	0.815000|0.815000	0.46073|0.46073	1.919000|1.919000	0.40015|0.40015	-0.299000|-0.299000	0.08909|0.08909	0.305000|0.305000	0.20034|0.20034	AAA|CAA	POMZP3	-	NULL	ENSG00000146707		0.532	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1	-	0	27	0	T	NM_012230		76240862	-1	tier1	-	no_errors	ENST00000310842	ensembl	human	known	74_37	nonsense	30.77	18	8	SNP	0.952	A	A	76240862	T	A	76240862	4	1	4	1	0	0	0	0	0	1	0	0	12286	1821	63	5	90	5	POMZP3	7	76240862	Nonsense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	171024	76240862	82897801	140	1051											
PCLO	27445	genome.wustl.edu	37	chr7	82584392	82584392	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtacgtgtcttctactaaAgattcataaatataatcctc	13	16	4	8	1	3	1	1	0	2	1	5	1	4	1	1	0	2	1	1	0	8	9			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:82584392A>C	ENST00000333891.9	-	5	6214	c.5877T>G	c.(5875-5877)tcT>tcG	p.S1959S	PCLO_ENST00000423517.2_Silent_p.S1959S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTACTAAAGATTCATAAA	0.378																																																	0													86	86	86					7																	82584392		1844	4094	5938	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5877T>G	7.37:g.82584392A>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S1959	ENST00000333891.9	37	c.5877	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	81	0	A	NM_014510		82584392	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	37.93	36	22	SNP	0.980	C	C	82584392	A	C	82584392	2	2	4	1	0	0	0	0	0	0	0	1	11622	59	3	4		4	PCLO	7	82584392	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	6343530	82584392	76554271	141	1052											
SAMD9L	219285	genome.wustl.edu	37	chr7	92763467	92763467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaaagtggaaatactgtgGtttgttagttcatcttccat	10	18	8	5	0	2	0	1	0	1	0	3	1	3	1	1	2	1	3	1	2	5	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:92763467G>T	ENST00000318238.4	-	5	3034	c.1818C>A	c.(1816-1818)aaC>aaA	p.N606K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	606					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATACTGTGGTTTGTTAGTT	0.363																																																	0													100	99	99					7																	92763467		2203	4299	6502	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1818C>A	7.37:g.92763467G>T	ENSP00000326247:p.Asn606Lys		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.N606K	ENST00000318238.4	37	c.1818	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.141300	0.01728	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.20738	2.05;2.05;2.05	4.86	2.89	0.33648	.	0.475155	0.21183	N	0.078782	T	0.08802	0.0218	N	0.08118	0	0.24268	N	0.995252	B	0.14438	0.01	B	0.13407	0.009	T	0.37686	-0.9695	10	0.13853	T	0.58	-5.5217	7.0064	0.24838	0.0815:0.0:0.5407:0.3778	.	606	Q8IVG5	SAM9L_HUMAN	K	606	ENSP00000326247:N606K;ENSP00000405760:N606K;ENSP00000408796:N606K	ENSP00000326247:N606K	N	-	3	2	SAMD9L	92601403	0.000000	0.05858	0.979000	0.43373	0.716000	0.41182	0.078000	0.14761	0.499000	0.27970	0.467000	0.42956	AAC	SAMD9L	-	NULL	ENSG00000177409		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	79	0	G	NM_152703		92763467	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.694	T	T	92763467	G	T	92763467	3	4	4	1	0	0	0	0	1	0	0	0	13872	1252	44	3	2940	3	SAMD9L	7	92763467	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10179075	92763467	66375196	142	1053											
ASNS	440	genome.wustl.edu	37	chr7	97493682	97493682	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttattggcagtatccaGtaaaacaaatgcaaacacac	16	11	5	9	0	1	0	0	0	1	0	2	0	2	0	1	1	3	4	1	1	6	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:97493682G>C	ENST00000394309.3	-	4	847	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	ASNS_ENST00000394308.3_Missense_Mutation_p.L126V|ASNS_ENST00000175506.4_Missense_Mutation_p.L126V|ASNS_ENST00000437628.1_Missense_Mutation_p.L43V|ASNS_ENST00000444334.1_Missense_Mutation_p.L105V|ASNS_ENST00000422745.1_Missense_Mutation_p.L105V|ASNS_ENST00000455086.1_Missense_Mutation_p.L43V	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	126	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCAGTATCCAGTAAAACAAAT	0.383																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													65	58	60					7																	97493682		2203	4299	6502	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.376C>G	7.37:g.97493682G>C	ENSP00000377846:p.Leu126Val		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.L126V	ENST00000394309.3	37	c.376	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278325	0.23307	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334;ENST00000442734;ENST00000437657	T;T;T;T;T;T;T;T	0.42900	1.0;1.0;0.99;1.0;1.0;0.99;1.0;0.96	4.19	4.19	0.49359	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.64402	D	0.000002	T	0.31888	0.0811	L	0.35288	1.05	0.53688	D	0.999979	B	0.23854	0.092	B	0.30316	0.114	T	0.17410	-1.0370	10	0.49607	T	0.09	-11.4343	8.0834	0.30758	0.1093:0.0:0.8907:0.0	.	126	P08243	ASNS_HUMAN	V	126;126;43;126;105;43;105;126;126	ENSP00000175506:L126V;ENSP00000377846:L126V;ENSP00000414379:L43V;ENSP00000377845:L126V;ENSP00000414901:L105V;ENSP00000408472:L43V;ENSP00000406994:L105V;ENSP00000400422:L126V	ENSP00000175506:L126V	L	-	1	2	ASNS	97331618	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	2.718000	0.47236	2.348000	0.79779	0.555000	0.69702	CTG	ASNS	-	pfam_GATase_dom,tigrfam_Asn_synth_AEB	ENSG00000070669		0.383	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	-	0	52	0	G	NM_001673, NM_183356		97493682	-1	tier1	-	no_errors	ENST00000175506	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	C	C	97493682	G	C	97493682	3	2	4	1	0	0	0	0	1	0	0	0	1049	1020	36	5	1349	5	ASNS	7	97493682	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4730215	97493682	61644981	143	1054											
PLOD3	8985	genome.wustl.edu	37	chr7	100850972	100850972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgtggatgtccacggtggGcacattctcgtagcctccag	7	10	12	12	2	1	0	0	0	1	0	4	1	3	1	3	3	1	2	3	3	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:100850972G>A	ENST00000223127.3	-	17	2220	c.1822C>T	c.(1822-1824)Ccc>Tcc	p.P608S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	608					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCACGGTGGGCACATTCTCG	0.672																																																	0													119	90	100					7																	100850972		2203	4300	6503	SO:0001583	missense	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1822C>T	7.37:g.100850972G>A	ENSP00000223127:p.Pro608Ser		B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.P608S	ENST00000223127.3	37	c.1822	CCDS5715.1	7	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865598	0.91511	.	.	ENSG00000106397	ENST00000223127	D	0.85013	-1.93	4.3	4.3	0.51218	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;0.974	D;P	0.91635	0.999;0.742	D	0.93039	0.6455	10	0.66056	D	0.02	-27.1462	14.6321	0.68663	0.0:0.0:1.0:0.0	.	235;608	Q9UG85;O60568	.;PLOD3_HUMAN	S	608	ENSP00000223127:P608S	ENSP00000223127:P608S	P	-	1	0	PLOD3	100637692	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.366000	0.97143	2.117000	0.64856	0.462000	0.41574	CCC	PLOD3	-	smart_Pro_4_hyd_alph	ENSG00000106397		0.672	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1		0	126	0	G			100850972	-1			no_errors	ENST00000223127	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	100850972	G	A	100850972	3	1	4	1	0	0	0	0	1	0	0	0	12142	1203	42	3	406	3	PLOD3	7	100850972	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	3357290	100850972	58287691	144	1055											
CTTNBP2	83992	genome.wustl.edu	37	chr7	117358157	117358157	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaacatccttaaatcaTccctggaatcagcaatctag	15	11	4	11	0	4	0	3	0	1	0	6	1	6	1	2	1	2	1	2	1	7	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:117358157T>C	ENST00000160373.3	-	22	4752	c.4661A>G	c.(4660-4662)gAt>gGt	p.D1554G		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1554					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTTAAATCATCCCTGGAATC	0.413																																																	0													86	78	80					7																	117358157		2203	4300	6503	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4661A>G	7.37:g.117358157T>C	ENSP00000160373:p.Asp1554Gly		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1554G	ENST00000160373.3	37	c.4661	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089622	0.55968	.	.	ENSG00000077063	ENST00000160373	T	0.72051	-0.62	5.61	4.44	0.53790	.	0.373135	0.32301	N	0.006297	T	0.63260	0.2496	L	0.54323	1.7	0.41002	D	0.984937	P	0.41420	0.749	B	0.37144	0.242	T	0.70342	-0.4898	10	0.87932	D	0	-18.5987	10.5164	0.44892	0.0:0.0753:0.0:0.9247	.	1554	Q8WZ74	CTTB2_HUMAN	G	1554	ENSP00000160373:D1554G	ENSP00000160373:D1554G	D	-	2	0	CTTNBP2	117145393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.375000	0.52410	2.127000	0.65507	0.460000	0.39030	GAT	CTTNBP2	-	NULL	ENSG00000077063		0.413	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	-	0	49	0	T	NM_033427		117358157	-1	tier1	-	no_errors	ENST00000160373	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	C	C	117358157	T	C	117358157	3	2	4	1	0	0	0	0	1	0	0	0	4054	1435	50	4	338	4	CTTNBP2	7	117358157	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	16507185	117358157	41780506	145	1056											
TAS2R60	338398	genome.wustl.edu	37	chr7	143140667	143140667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggcttcatcactgctgCtctgggcgtggagtgggtgc	5	11	15	10	1	3	0	2	0	1	0	3	1	3	1	0	4	3	3	0	4	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:143140667C>T	ENST00000332690.1	+	1	122	c.122C>T	c.(121-123)gCt>gTt	p.A41V	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	41					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ATCACTGCTGCTCTGGGCGTG	0.498																																																	0													240	216	224					7																	143140667		2203	4300	6503	SO:0001583	missense	0			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.122C>T	7.37:g.143140667C>T	ENSP00000327724:p.Ala41Val		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.A41V	ENST00000332690.1	37	c.122	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.587120	0.00872	.	.	ENSG00000185899	ENST00000332690	T	0.33216	1.42	5.68	-1.28	0.09318	.	1.093040	0.07163	N	0.851052	T	0.09024	0.0223	N	0.03324	-0.35	0.09310	N	1	P	0.35551	0.509	B	0.31290	0.127	T	0.13335	-1.0513	10	0.02654	T	1	.	4.0512	0.09796	0.1608:0.4119:0.0:0.4273	.	41	P59551	T2R60_HUMAN	V	41	ENSP00000327724:A41V	ENSP00000327724:A41V	A	+	2	0	TAS2R60	142850789	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.459000	0.06728	-0.042000	0.13535	-0.290000	0.09829	GCT	TAS2R60	-	pfam_TAS2_rcpt	ENSG00000185899		0.498	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1	-	0	76	0	C			143140667	1	tier1	-	no_errors	ENST00000332690	ensembl	human	known	74_37	missense	43.40	29	23	SNP	0.000	T	T	143140667	C	T	143140667	3	4	4	1	0	0	0	0	1	0	0	0	15632	797	28	3	124	3	TAS2R60	7	143140667	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	25782510	143140667	15997996	146	1057											
ZNF746	155061	genome.wustl.edu	37	chr7	149190005	149190005	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccagggcggcgccagttGcagggctccttcccttgttc	3	9	15	14	2	0	0	0	0	0	0	3	0	2	0	4	4	1	4	4	4	0	4	rs534376643		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr7:149190005G>T	ENST00000340622.3	-	4	745	c.465C>A	c.(463-465)tgC>tgA	p.C155*	ZNF746_ENST00000458143.2_Nonsense_Mutation_p.C155*|ZNF746_ENST00000461958.2_Nonsense_Mutation_p.C155*			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	155	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCGCCAGTTGCAGGGCTCCT	0.577																																																	0													77	67	70					7																	149190005		2203	4300	6503	SO:0001587	stop_gained	0			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.465C>A	7.37:g.149190005G>T	ENSP00000345140:p.Cys155*		A8K6Z9|Q6ZRF9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C155*	ENST00000340622.3	37	c.465	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	.	37	6.392824	0.97529	.	.	ENSG00000181220	ENST00000340622;ENST00000458143;ENST00000461958	.	.	.	5.33	2.08	0.27032	.	0.000000	0.49916	D	0.000125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-20.4897	9.3459	0.38109	0.2854:0.0:0.7146:0.0	.	.	.	.	X	155;155;142	.	ENSP00000345140:C155X	C	-	3	2	ZNF746	148820938	0.000000	0.05858	0.962000	0.40283	0.944000	0.59088	-0.889000	0.04144	0.638000	0.30545	0.609000	0.83330	TGC	ZNF746	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000181220		0.577	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	-	0	132	0	G	NM_152557		149190005	-1	tier1	-	no_errors	ENST00000458143	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.891	T	T	149190005	G	T	149190005	4	4	4	1	0	0	0	0	0	1	0	0	18177	1311	46	3	1488	3	ZNF746	7	149190005	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	6049338	149190005	9948658	147	1058											
MYOM2	9172	genome.wustl.edu	37	chr8	2046716	2046716	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacggaaggctcactctaCgagttcaaaatcgccgccgt	10	9	10	12	5	3	1	2	1	1	0	4	3	3	2	2	2	1	2	2	2	4	3	rs141326692		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:2046716C>A	ENST00000262113.4	+	19	2484	c.2343C>A	c.(2341-2343)taC>taA	p.Y781*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.Y206*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	781	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCTCACTCTACGAGTTCAAAA	0.547																																																	0													39	37	38					8																	2046716		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2343C>A	8.37:g.2046716C>A	ENSP00000262113:p.Tyr781*		Q7Z3Y2	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y781*	ENST00000262113.4	37	c.2343	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602035	0.87055	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.5	-0.925	0.10458	.	0.126644	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7721	0.40595	0.0:0.3569:0.0:0.6431	.	.	.	.	X	781;206	.	ENSP00000262113:Y781X	Y	+	3	2	MYOM2	2034123	0.980000	0.34600	0.741000	0.31004	0.102000	0.19082	0.097000	0.15168	-0.405000	0.07599	-0.367000	0.07326	TAC	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000036448		0.547	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	122	0	C	NM_003970		2046716	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	nonsense	50.54	46	47	SNP	0.997	A	A	2046716	C	A	2046716	4	1	4	1	0	0	0	0	0	1	0	0	10130	547	19	2	2413	2	MYOM2	8	2046716	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09		2046716	144317306	148	1059											
CSMD1	64478	genome.wustl.edu	37	chr8	2813255	2813255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgatggctctcacatccgCgtgtgccggggtttctggct	4	12	13	12	4	2	0	1	0	2	0	5	1	3	0	2	4	1	3	2	4	0	1	rs566623371		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:2813255C>T	ENST00000520002.1	-	65	10408	c.9853G>A	c.(9853-9855)Gcg>Acg	p.A3285T	CSMD1_ENST00000602557.1_Missense_Mutation_p.A3285T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A3284T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A3108T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A3107T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A3108T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3285	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTCACATCCGCGTGTGCCGGG	0.483													C|||	1	0.000199681	0	0	5008	,	,		18146	0.001		0	False		,,,				2504	0																0													131	130	130					8																	2813255		1965	4162	6127	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9853G>A	8.37:g.2813255C>T	ENSP00000430733:p.Ala3285Thr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3285T	ENST00000520002.1	37	c.9853		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.01|13.01	2.109010|2.109010	0.37242|0.37242	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.46819|.	0.86;0.86;0.86;0.86|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Complement control module (2);Sushi/SCR/CCP (3);|.	0.088045|.	0.48767|.	D|.	0.000178|.	T|T	0.72104|0.72104	0.3419|0.3419	M|M	0.65677|0.65677	2.01|2.01	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.687;0.492|.	D;P;B|.	0.81914|.	0.995;0.487;0.3|.	T|T	0.70737|0.70737	-0.4790|-0.4790	10|5	0.56958|.	D|.	0.05|.	.|.	14.5429|14.5429	0.68008|0.68008	0.1463:0.8537:0.0:0.0|0.1463:0.8537:0.0:0.0	.|.	3285;3285;3107|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|H	3108;3285;3146;3284;3107|2701	ENSP00000383047:A3108T;ENSP00000430733:A3285T;ENSP00000441462:A3284T;ENSP00000446243:A3107T|.	ENSP00000320445:A3146T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	2800662|2800662	0.916000|0.916000	0.31088|0.31088	0.157000|0.157000	0.22605|0.22605	0.009000|0.009000	0.06853|0.06853	3.003000|3.003000	0.49505|0.49505	2.656000|2.656000	0.90262|0.90262	0.460000|0.460000	0.39030|0.39030	GCG|CGC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	62	0	C	NM_033225		2813255	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	26.87	49	18	SNP	0.686	T	T	2813255	C	T	2813255	3	4	4	1	0	0	0	0	1	0	0	0	3953	768	27	1	872	1	CSMD1	8	2813255	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	766539	2813255	143550767	149	1060											
DLC1	10395	genome.wustl.edu	37	chr8	12957567	12957567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgaggctccgggtcctcGtaacagggctgggcgtgctg	5	8	16	12	3	0	1	0	1	0	0	3	1	2	1	2	4	2	4	2	4	1	1	rs144923726		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:12957567G>A	ENST00000276297.4	-	9	2688	c.2279C>T	c.(2278-2280)aCg>aTg	p.T760M	DLC1_ENST00000520226.1_Missense_Mutation_p.T249M|DLC1_ENST00000512044.2_Missense_Mutation_p.T357M|DLC1_ENST00000358919.2_Missense_Mutation_p.T323M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	760	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCGGGTCCTCGTAACAGGGCT	0.587																																																	0								G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	57	51	53		746,968,2279	3.3	0.9	8	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	81,81,81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	249/1018,323/1092,760/1529	12957567	2,13004	2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2279C>T	8.37:g.12957567G>A	ENSP00000276297:p.Thr760Met		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.T760M	ENST00000276297.4	37	c.2279	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101330	0.56183	2.27E-4	1.16E-4	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06687	3.52;3.28;3.27;3.27	4.23	3.34	0.38264	.	0.163195	0.53938	D	0.000051	T	0.25791	0.0628	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.69824	0.964;0.856;0.966	T	0.02047	-1.1223	10	0.56958	D	0.05	.	13.7054	0.62636	0.0:0.0:0.8446:0.1554	.	760;357;323	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	M	760;323;357;249	ENSP00000276297:T760M;ENSP00000351797:T323M;ENSP00000422595:T357M;ENSP00000428028:T249M	ENSP00000276297:T760M	T	-	2	0	DLC1	13001938	1.000000	0.71417	0.916000	0.36221	0.818000	0.46254	9.263000	0.95617	1.117000	0.41842	-0.314000	0.08810	ACG	DLC1	-	NULL	ENSG00000164741		0.587	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	35	0	G	NM_182643, NM_006094		12957567	-1	tier1	rs144923726	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.984	A	A	12957567	G	A	12957567	3	1	4	1	0	0	0	0	1	0	0	0	4564	1145	40	1	2347	1	DLC1	8	12957567	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10144312	12957567	133406455	150	1061											
LOXL2	4017	genome.wustl.edu	37	chr8	23155563	23155563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaggcttctttactgcGgggacagctggttgtttaag	7	12	13	9	2	1	0	0	0	1	0	1	1	1	1	0	4	3	5	0	4	2	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:23155563G>T	ENST00000389131.3	-	14	2687	c.2318C>A	c.(2317-2319)cCg>cAg	p.P773Q		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	773					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCTTTACTGCGGGGACAGCTG	0.532																																																	0													73	70	71					8																	23155563		2203	4300	6503	SO:0001583	missense	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2318C>A	8.37:g.23155563G>T	ENSP00000373783:p.Pro773Gln		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.P773Q	ENST00000389131.3	37	c.2318	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080623	0.36758	.	.	ENSG00000134013	ENST00000389131	T	0.01178	5.22	5.43	2.56	0.30785	.	1.047670	0.07450	N	0.898815	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.24768	0.111	B	0.20184	0.028	T	0.50329	-0.8841	10	0.25751	T	0.34	.	7.0745	0.25197	0.0837:0.0:0.6112:0.3051	.	773	Q9Y4K0	LOXL2_HUMAN	Q	773	ENSP00000373783:P773Q	ENSP00000373783:P773Q	P	-	2	0	LOXL2	23211508	0.003000	0.15002	0.000000	0.03702	0.286000	0.27126	1.311000	0.33562	0.238000	0.21222	0.549000	0.68633	CCG	LOXL2	-	NULL	ENSG00000134013		0.532	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1		0	37	0	G			23155563	-1			no_errors	ENST00000389131	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.001	T	T	23155563	G	T	23155563	3	4	4	1	0	0	0	0	1	0	0	0	8935	1116	39	2	10	2	LOXL2	8	23155563	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10197996	23155563	123208459	151	1062											
NRG1	3084	genome.wustl.edu	37	chr8	32617883	32617883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctcaggcatgccagAgaaacccctgattcctaccg	10	8	8	15	1	1	2	1	1	0	1	3	3	3	2	6	1	4	2	6	1	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:32617883A>G	ENST00000405005.3	+	11	1227	c.1227A>G	c.(1225-1227)agA>agG	p.R409R	NRG1_ENST00000356819.4_Silent_p.R414R|NRG1_ENST00000338921.4_Silent_p.R417R|NRG1_ENST00000519301.1_Silent_p.R359R|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000539990.1_Silent_p.R252R|NRG1_ENST00000287845.5_Silent_p.R380R|NRG1_ENST00000521670.1_Silent_p.R409R|NRG1_ENST00000287842.3_Silent_p.R406R|NRG1_ENST00000523079.1_Silent_p.R406R			Q02297	NRG1_HUMAN	neuregulin 1	409					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGCATGCCAGAGAAACCCCTG	0.522																																																	0													128	133	131					8																	32617883		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1227A>G	8.37:g.32617883A>G			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.R417	ENST00000405005.3	37	c.1251	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.522	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	34	0	A			32617883	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	silent	46.51	23	20	SNP	1.000	G	G	32617883	A	G	32617883	2	3	4	1	0	0	0	0	0	0	0	1	10686	301	11	4		4	NRG1	8	32617883	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	9462320	32617883	113746139	152	1063											
WHSC1L1	54904	genome.wustl.edu	37	chr8	38187059	38187059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggatttccttgctgccGcagttttccaggctatttta	7	16	9	9	1	0	0	0	0	0	0	2	1	2	1	3	2	2	5	3	2	3	8			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:38187059G>T	ENST00000317025.8	-	6	1935	c.1418C>A	c.(1417-1419)gCg>gAg	p.A473E	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A473E|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A473E|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A473E	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	473					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.A473V(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCTTGCTGCCGCAGTTTTCCA	0.483			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	2	Substitution - Missense(2)	kidney(2)											101	100	100					8																	38187059		2203	4300	6503	SO:0001583	missense	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1418C>A	8.37:g.38187059G>T	ENSP00000313983:p.Ala473Glu		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.A473E	ENST00000317025.8	37	c.1418	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040090	0.93630	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;T	0.96856	-4.15;-4.08;-4.08;-0.96	5.76	5.76	0.90799	.	0.000000	0.47852	U	0.000202	D	0.97136	0.9064	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;1.0;0.998	P;D;D;P	0.79784	0.87;0.917;0.993;0.87	D	0.95008	0.8149	10	0.13108	T	0.6	.	19.9719	0.97287	0.0:0.0:1.0:0.0	.	473;473;473;473	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	E	473;473;410;473;473	ENSP00000393284:A473E;ENSP00000313983:A473E;ENSP00000434730:A473E;ENSP00000313410:A473E	ENSP00000313410:A473E	A	-	2	0	WHSC1L1	38306216	1.000000	0.71417	0.848000	0.33437	0.984000	0.73092	6.868000	0.75516	2.718000	0.92993	0.650000	0.86243	GCG	WHSC1L1	-	NULL	ENSG00000147548		0.483	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0	100	0	G	NM_023034		38187059	-1	tier1	-	no_errors	ENST00000317025	ensembl	human	known	74_37	missense	6.19	91	6	SNP	1.000	T	T	38187059	G	T	38187059	3	4	4	1	0	0	0	0	1	0	0	0	17412	1087	38	2	3058	2	WHSC1L1	8	38187059	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	5569176	38187059	108176963	153	1064											
SDR16C5	195814	genome.wustl.edu	37	chr8	57224771	57224771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccataagctcatctggaCagtcaaggaactttttgcct	10	14	7	10	0	3	0	2	0	1	0	4	2	4	2	2	2	3	1	2	2	3	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:57224771C>G	ENST00000303749.3	-	3	1047	c.410G>C	c.(409-411)tGt>tCt	p.C137S	SDR16C5_ENST00000522671.1_Missense_Mutation_p.C137S|SDR16C5_ENST00000396721.2_Intron	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	137					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CTCATCTGGACAGTCAAGGAA	0.353																																																	0													108	100	103					8																	57224771		2203	4300	6503	SO:0001583	missense	0				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.410G>C	8.37:g.57224771C>G	ENSP00000307607:p.Cys137Ser		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.C137S	ENST00000303749.3	37	c.410	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532590	0.45073	.	.	ENSG00000170786	ENST00000303749;ENST00000522671;ENST00000538514	D;D	0.86956	-2.19;-2.19	5.4	3.45	0.39498	NAD(P)-binding domain (1);	0.371433	0.31685	N	0.007233	T	0.65154	0.2664	N	0.02876	-0.465	0.37275	D	0.907573	B;B	0.28208	0.203;0.002	B;B	0.25506	0.061;0.017	T	0.65034	-0.6266	10	0.09843	T	0.71	.	8.321	0.32130	0.1374:0.4851:0.3775:0.0	.	137;137	G3V145;Q8N3Y7	.;RDHE2_HUMAN	S	137	ENSP00000307607:C137S;ENSP00000431010:C137S	ENSP00000307607:C137S	C	-	2	0	SDR16C5	57387325	0.020000	0.18652	0.990000	0.47175	0.988000	0.76386	0.870000	0.28010	2.541000	0.85698	0.650000	0.86243	TGT	SDR16C5	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000170786		0.353	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	-	0	77	0	C	NM_138969		57224771	-1	tier1	-	no_errors	ENST00000303749	ensembl	human	known	74_37	missense	59.02	25	36	SNP	0.842	G	G	57224771	C	G	57224771	3	3	4	1	0	0	0	0	1	0	0	0	14016	478	17	5	539	5	SDR16C5	8	57224771	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	19037712	57224771	89139251	154	1065											
PREX2	80243	genome.wustl.edu	37	chr8	68930087	68930087	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtttcatgcaggcattcTtacacagaatgaaccagtgt	11	13	8	9	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	3	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:68930087T>C	ENST00000288368.4	+	2	425	c.148T>C	c.(148-150)Tta>Cta	p.L50L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	50	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L50V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGGCATTCTTACACAGAAT	0.378																																																	2	Substitution - Missense(2)	large_intestine(2)											125	105	112					8																	68930087		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.148T>C	8.37:g.68930087T>C			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L50	ENST00000288368.4	37	c.148	CCDS6201.1	8																																																																																			PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.378	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	37	0	T	NM_025170		68930087	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	25.64	29	10	SNP	1.000	C	C	68930087	T	C	68930087	2	2	4	1	0	0	0	0	0	0	0	1	12519	1606	56	4		4	PREX2	8	68930087	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	11705316	68930087	77433935	155	1066											
ZFHX4	79776	genome.wustl.edu	37	chr8	77617713	77617713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggggagtgccctgtcaaaAgtgaacccactgaaccggga	12	5	13	11	2	1	2	1	2	0	0	1	4	1	4	3	3	3	0	3	3	4	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:77617713A>G	ENST00000521891.2	+	2	1838	c.1390A>G	c.(1390-1392)Agt>Ggt	p.S464G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S464G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S464G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S464G|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTGTCAAAAGTGAACCCAC	0.453										HNSCC(33;0.089)																																							0													71	72	71					8																	77617713		2002	4177	6179	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1390A>G	8.37:g.77617713A>G	ENSP00000430497:p.Ser464Gly		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S464G	ENST00000521891.2	37	c.1390	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	2.408	-0.335969	0.05278	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51071	0.72;0.77;0.73;0.73	5.65	4.48	0.54585	.	0.000000	0.52532	U	0.000071	T	0.32285	0.0824	N	0.24115	0.695	0.49915	D	0.999837	P;P;P;P	0.40794	0.61;0.729;0.729;0.572	B;B;B;B	0.35770	0.104;0.21;0.21;0.106	T	0.08432	-1.0722	10	0.39692	T	0.17	.	13.0106	0.58729	0.8653:0.1347:0.0:0.0	.	464;464;464;464	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	G	464	ENSP00000430497:S464G;ENSP00000399605:S464G;ENSP00000050961:S464G;ENSP00000430848:S464G	ENSP00000050961:S464G	S	+	1	0	ZFHX4	77780268	1.000000	0.71417	0.977000	0.42913	0.432000	0.31715	3.532000	0.53553	1.124000	0.41980	0.533000	0.62120	AGT	ZFHX4	-	NULL	ENSG00000091656		0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0	16	0	A	NM_024721		77617713	1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	G	G	77617713	A	G	77617713	3	3	4	1	0	0	0	0	1	0	0	0	17683	72	3	4	1392	4	ZFHX4	8	77617713	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	8687626	77617713	68746309	156	1067											
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885764	88885764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatctgcaagtcccacgaAgcacagcagaaggtgggaat	14	6	12	9	1	1	1	0	0	1	1	2	3	2	2	1	2	3	4	1	2	5	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:88885764A>G	ENST00000319675.3	-	1	532	c.436T>C	c.(436-438)Ttc>Ctc	p.F146L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	146										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGTCCCACGAAGCACAGCAGA	0.557																																																	0													96	90	92					8																	88885764		2203	4300	6503	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.436T>C	8.37:g.88885764A>G	ENSP00000316496:p.Phe146Leu			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F146L	ENST00000319675.3	37	c.436	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	A	3.291	-0.145020	0.06627	.	.	ENSG00000176566	ENST00000319675	T	0.67345	-0.26	1.68	0.683	0.17998	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.117163	0.64402	N	0.000017	T	0.26304	0.0642	N	0.01624	-0.795	0.20489	N	0.999893	B	0.02656	0.0	B	0.04013	0.001	T	0.31251	-0.9950	10	0.02654	T	1	.	3.8503	0.08953	0.2801:0.0:0.7199:0.0	.	146	Q8NA75	DC4L2_HUMAN	L	146	ENSP00000316496:F146L	ENSP00000316496:F146L	F	-	1	0	DCAF4L2	88954880	1.000000	0.71417	0.037000	0.18230	0.085000	0.17905	2.692000	0.47018	0.011000	0.14865	-0.456000	0.05471	TTC	DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	-	0	33	0	A	NM_152418		88885764	-1	tier1	-	no_errors	ENST00000319675	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.811	G	G	88885764	A	G	88885764	3	3	4	1	0	0	0	0	1	0	0	0	4281	72	3	4	755	4	DCAF4L2	8	88885764	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	11268051	88885764	57478258	157	1068											
RIMS2	9699	genome.wustl.edu	37	chr8	104924382	104924382	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtacctcgagattcaggAgcaatgcttggcttgaaggt	10	11	13	7	1	1	2	1	1	0	1	2	4	1	3	1	3	3	4	1	3	3	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:104924382A>G	ENST00000436393.2	+	4	1369	c.1128A>G	c.(1126-1128)ggA>ggG	p.G376G	RIMS2_ENST00000406091.3_Silent_p.G598G|RIMS2_ENST00000507740.1_Silent_p.G406G|RIMS2_ENST00000262231.10_Silent_p.G453G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	676					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATTCAGGAGCAATGCTTG	0.373										HNSCC(12;0.0054)																																							0													108	106	106					8																	104924382		1849	4093	5942	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1128A>G	8.37:g.104924382A>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.G598	ENST00000436393.2	37	c.1794		8																																																																																			RIMS2	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000176406		0.373	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	55	0	A	NM_001100117		104924382	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	34.00	33	17	SNP	1.000	G	G	104924382	A	G	104924382	2	3	4	1	0	0	0	0	0	0	0	1	13413	291	11	4		4	RIMS2	8	104924382	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	16038618	104924382	41439640	158	1069											
ZFPM2	23414	genome.wustl.edu	37	chr8	106813335	106813335	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgcaccgtctgtagctAcactgctgattccgtgatca	11	11	8	11	2	2	2	1	2	1	0	3	2	3	2	2	0	4	4	2	0	4	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:106813335A>C	ENST00000407775.2	+	8	1275	c.1025A>C	c.(1024-1026)tAc>tCc	p.Y342S	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Y73S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Y210S|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Y210S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	342					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GTCTGTAGCTACACTGCTGAT	0.458																																																	0													199	192	194					8																	106813335		2012	4195	6207	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1025A>C	8.37:g.106813335A>C	ENSP00000384179:p.Tyr342Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y342S	ENST00000407775.2	37	c.1025	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	14.85	2.659897	0.47572	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);	0.057548	0.64402	D	0.000001	T	0.43500	0.1250	L	0.52206	1.635	0.58432	D	0.999999	D	0.76494	0.999	P	0.56343	0.796	T	0.12863	-1.0531	10	0.27785	T	0.31	.	16.1988	0.82053	1.0:0.0:0.0:0.0	.	342	Q8WW38	FOG2_HUMAN	S	342;210;210;73	ENSP00000384179:Y342S;ENSP00000430757:Y210S;ENSP00000428720:Y210S;ENSP00000367733:Y73S	ENSP00000367733:Y73S	Y	+	2	0	ZFPM2	106882511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.947000	0.75959	2.284000	0.76573	0.528000	0.53228	TAC	ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	66	0	A			106813335	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	C	C	106813335	A	C	106813335	3	2	4	1	0	0	0	0	1	0	0	0	17706	391	14	4	1055	4	ZFPM2	8	106813335	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	1888953	106813335	39550687	159	1070											
TRPS1	7227	genome.wustl.edu	37	chr8	116426999	116426999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgaatgtgcaaaggtTgcatccttttgtgaatatcc	10	16	8	7	0	1	2	0	2	1	0	3	2	3	2	2	1	2	3	2	1	5	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:116426999T>G	ENST00000220888.5	-	6	3257	c.3098A>C	c.(3097-3099)cAa>cCa	p.Q1033P	TRPS1_ENST00000519076.1_Missense_Mutation_p.Q787P|TRPS1_ENST00000395715.3_Missense_Mutation_p.Q1046P|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q1037P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1033	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTGCAAAGGTTGCATCCTTTT	0.448									Langer-Giedion syndrome																																								0													144	136	138					8																	116426999		1902	4120	6022	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3098A>C	8.37:g.116426999T>G	ENSP00000220888:p.Gln1033Pro		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.Q1046P	ENST00000220888.5	37	c.3137		8	.	.	.	.	.	.	.	.	.	.	T	6.727	0.502915	0.12822	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.98419	-4.92;-4.89;-4.87;-4.89	5.62	5.62	0.85841	.	0.061993	0.64402	D	0.000002	D	0.93713	0.7991	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	D	0.90387	0.4392	10	0.37606	T	0.19	.	15.8115	0.78568	0.0:0.0:0.0:1.0	.	1037;1033;1046	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	P	1046;1033;787;1037	ENSP00000379065:Q1046P;ENSP00000220888:Q1033P;ENSP00000428910:Q787P;ENSP00000428680:Q1037P	ENSP00000220888:Q1033P	Q	-	2	0	TRPS1	116496175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.241000	0.72369	2.131000	0.65755	0.533000	0.62120	CAA	TRPS1	-	NULL	ENSG00000104447		0.448	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	71	0	T	NM_014112		116426999	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	G	G	116426999	T	G	116426999	3	3	4	1	0	0	0	0	1	0	0	0	16641	1812	63	4	751	4	TRPS1	8	116426999	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	9613664	116426999	29937023	160	1071											
KHDRBS3	10656	genome.wustl.edu	37	chr8	136619224	136619224	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgatggatatggcactgcTtatgatgaacagagttatga	13	12	12	4	0	0	5	0	4	0	1	0	7	0	6	0	2	2	3	0	2	4	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:136619224T>C	ENST00000355849.5	+	7	1244	c.834T>C	c.(832-834)gcT>gcC	p.A278A	KHDRBS3_ENST00000520981.1_Silent_p.A51A	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	278	Tyr-rich.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGGCACTGCTTATGATGAAC	0.383																																																	0													228	212	218					8																	136619224		2203	4300	6503	SO:0001819	synonymous_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.834T>C	8.37:g.136619224T>C			Q6NUL8|Q9UPA8	Silent	SNP	smart_KH_dom	p.A278	ENST00000355849.5	37	c.834	CCDS6374.1	8																																																																																			KHDRBS3	-	NULL	ENSG00000131773		0.383	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	-	0	74	0	T			136619224	1	tier1	-	no_errors	ENST00000355849	ensembl	human	known	74_37	silent	44.26	34	27	SNP	0.994	C	C	136619224	T	C	136619224	2	2	4	1	0	0	0	0	0	0	0	1	8175	1596	56	4		4	KHDRBS3	8	136619224	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	20192225	136619224	9744798	161	1072											
EPPK1	83481	genome.wustl.edu	37	chr8	144945735	144945735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcacggtgtccctcaGcccagaaaaggtgaccctgg	8	8	13	12	1	2	2	2	1	0	1	3	2	3	2	3	4	1	0	3	4	2	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:144945735G>T	ENST00000525985.1	-	2	1758	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M				P58107	EPIPL_HUMAN	epiplakin 1	563						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L563M(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGTCCCTCAGCCCAGAAAAG	0.627																																																	1	Substitution - Missense(1)	autonomic_ganglia(1)											27	33	31					8																	144945735		2158	4266	6424	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1687C>A	8.37:g.144945735G>T	ENSP00000436337:p.Leu563Met		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L563M	ENST00000525985.1	37	c.1687		8	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717063	0.30413	.	.	ENSG00000227184	ENST00000525985	T	0.70282	-0.47	5.06	1.27	0.21489	.	.	.	.	.	T	0.78272	0.4257	M	0.64997	1.995	0.09310	N	0.999997	D	0.89917	1.0	D	0.74023	0.982	T	0.64639	-0.6360	9	0.51188	T	0.08	.	7.3732	0.26813	0.463:0.0:0.537:0.0	.	563	E9PPU0	.	M	563	ENSP00000436337:L563M	ENSP00000436337:L563M	L	-	1	2	EPPK1	145017723	0.879000	0.30193	0.658000	0.29665	0.411000	0.31082	1.182000	0.32029	0.044000	0.15775	-0.793000	0.03317	CTG	EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1		0	48	0	G	NM_031308		144945735	-1			no_errors	ENST00000525985	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.147	T	T	144945735	G	T	144945735	3	4	4	1	0	0	0	0	1	0	0	0	5206	962	34	3	5579	3	EPPK1	8	144945735	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	8326511	144945735	1418287	162	1073											
ZNF251	90987	genome.wustl.edu	37	chr8	145979173	145979174	+	Frame_Shift_Ins	INS	-	-	A																															atcaactccggcttagggacINSagggaatcctgttgaggatg																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr8:145979173_145979174insA	ENST00000292562.7	-	4	446_447	c.171_172insT	c.(169-174)cctgtcfs	p.V58fs	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGCTTAGGGACAGGGAATCCTG	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.172dupT	8.37:g.145979174_145979174dupA	ENSP00000292562:p.Val58fs		Q2M219	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V57fs	ENST00000292562.7	37	c.172_171	CCDS47944.1	8																																																																																			ZNF251	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198169		0.574	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1		0	28	0	-	NM_138367		145979174	-1	tier1		no_errors	ENST00000292562	ensembl	human	known	74_37	frame_shift_ins	17.86	23	5	INS	0.159:0.156	A	A	145979174	-	A	145979173	7	5	4	1	0	1	1	0	0	0	0	0	17844	478	17	0	1851	0	ZNF251	8	145979173	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	1033438	145979173	384849	163	1074											
KIAA1432	57589	genome.wustl.edu	37	chr9	5742916	5742916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgatgagatggtctcctGacaatagtgttgtaatagtg	12	14	11	4	0	1	3	0	3	1	1	2	4	1	3	1	1	0	2	1	1	5	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:5742916G>A	ENST00000414202.2	+	9	1140	c.949G>A	c.(949-951)Gac>Aac	p.D317N	KIAA1432_ENST00000251879.6_Missense_Mutation_p.D317N|KIAA1432_ENST00000381532.2_Missense_Mutation_p.D238N|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D238N|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D238N	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATGGTCTCCTGACAATAGTGT	0.373																																																	0													152	154	153					9																	5742916		2203	4300	6503	SO:0001583	missense	0																														ENST00000414202.2:c.949G>A	9.37:g.5742916G>A	ENSP00000416696:p.Asp317Asn			Missense_Mutation	SNP	pfam_Ribosome_control_1,superfamily_WD40_repeat_dom	p.D238N	ENST00000414202.2	37	c.712	CCDS34982.2	9	.	.	.	.	.	.	.	.	.	.	G	35	5.477427	0.96291	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	T;T;T;T;T	0.73575	1.3;1.3;-0.76;-0.76;-0.76	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87160	0.6108	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.974	D	0.86646	0.1895	10	0.66056	D	0.02	-22.4839	20.6721	0.99693	0.0:0.0:1.0:0.0	.	238;317;317	B7ZM67;Q4ADV7;G5E932	.;RIC1_HUMAN;.	N	317;317;238;238;238	ENSP00000251879:D317N;ENSP00000416696:D317N;ENSP00000370943:D238N;ENSP00000402240:D238N;ENSP00000398823:D238N	ENSP00000251879:D317N	D	+	1	0	KIAA1432	5732916	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.398000	0.97281	2.894000	0.99253	0.591000	0.81541	GAC	KIAA1432	-	superfamily_WD40_repeat_dom	ENSG00000107036		0.373	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1432	HGNC	protein_coding	OTTHUMT00000051636.3	-	0	120	0	G			5742916	1	tier1	-	no_errors	ENST00000418622	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	5742916	G	A	5742916	3	1	4	1	0	0	0	0	1	0	0	0	8260	1290	45	3	742	3	KIAA1432	9	5742916	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		5742916	135470515	164	1075											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39171488	39171488	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgaaaagcaaatgtcctGctctgttccacgttcgaaat	11	10	8	12	4	1	0	0	0	1	0	4	2	3	0	3	0	2	4	3	0	4	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:39171488G>C	ENST00000297668.6	-	8	1284	c.1211C>G	c.(1210-1212)gCa>gGa	p.A404G	CNTNAP3_ENST00000323947.7_Missense_Mutation_p.A404G|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.A404G|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.A404G|CNTNAP3_ENST00000377653.2_5'Flank|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.A316G	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	404	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAAATGTCCTGCTCTGTTCCA	0.507																																																	0													53	45	48					9																	39171488		2203	4300	6503	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1211C>G	9.37:g.39171488G>C	ENSP00000297668:p.Ala404Gly		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A404G	ENST00000297668.6	37	c.1211	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	9.400	1.077822	0.20227	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	3.28	0.286	0.15710	Concanavalin A-like lectin/glucanase (2);Concanavalin A-like lectin/glucanase, subgroup (2);Laminin G domain (4);Laminin G, subdomain 2 (2);	.	.	.	.	D	0.82435	0.5036	M	0.79475	2.455	0.24066	N	0.995994	D;B;B;P;B	0.56746	0.977;0.046;0.016;0.766;0.051	D;B;B;P;B	0.62955	0.909;0.097;0.029;0.674;0.155	T	0.68322	-0.5439	9	0.38643	T	0.18	.	3.393	0.07295	0.2216:0.0:0.2966:0.4818	.	404;404;404;404;404	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	G	404;404;316;404;404	ENSP00000297668:A404G;ENSP00000366884:A404G;ENSP00000350863:A316G;ENSP00000320728:A404G;ENSP00000366887:A404G	ENSP00000297668:A404G	A	-	2	0	CNTNAP3	39161488	0.008000	0.16893	0.794000	0.32065	0.714000	0.41099	0.194000	0.17135	0.191000	0.20236	-0.311000	0.09066	GCA	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.507	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0	176	0	G	NM_033655		39171488	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	15.08	167	30	SNP	0.950	C	C	39171488	G	C	39171488	3	2	4	1	0	0	0	0	1	0	0	0	3655	1319	46	5	2723	5	CNTNAP3	9	39171488	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	33428572	39171488	102041943	165	1076											
FANCC	2176	genome.wustl.edu	37	chr9	98011548	98011548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaactgataatcacaaGaaagatctactgaatcttga	18	10	5	8	0	3	5	1	3	2	2	4	5	4	5	1	0	2	0	1	0	7	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:98011548G>T	ENST00000289081.3	-	2	280	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	FANCC_ENST00000375305.1_Missense_Mutation_p.S9Y	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	9					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				ATAATCACAAGAAAGATCTAC	0.468			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0													81	74	76					9																	98011548		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.26C>A	9.37:g.98011548G>T	ENSP00000289081:p.Ser9Tyr		B1ALR8	Missense_Mutation	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.S9Y	ENST00000289081.3	37	c.26	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414159	0.42817	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.50813	0.73;0.73;0.73	5.13	3.27	0.37495	.	0.942920	0.09050	N	0.855895	T	0.41949	0.1181	L	0.43152	1.355	0.09310	N	1	P;P	0.41673	0.759;0.759	P;B	0.44597	0.454;0.272	T	0.39981	-0.9587	10	0.62326	D	0.03	-0.7905	2.2287	0.03991	0.1612:0.1274:0.5139:0.1975	.	9;9	B1ALR7;Q00597	.;FANCC_HUMAN	Y	9	ENSP00000289081:S9Y;ENSP00000364454:S9Y;ENSP00000406908:S9Y	ENSP00000289081:S9Y	S	-	2	0	FANCC	97051369	0.506000	0.26139	0.581000	0.28614	0.981000	0.71138	0.607000	0.24209	0.845000	0.35118	-0.182000	0.12963	TCT	FANCC	-	pfam_Fanconi,pirsf_Fanconi	ENSG00000158169		0.468	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	-	0	25	0	G	NM_000136		98011548	-1	tier1	-	no_errors	ENST00000289081	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.062	T	T	98011548	G	T	98011548	3	4	4	1	0	0	0	0	1	0	0	0	5686	942	33	3	1706	3	FANCC	9	98011548	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	58840060	98011548	43201883	166	1077											
STX17	55014	genome.wustl.edu	37	chr9	102691114	102691114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatatcaatgcaggaCgtacagttcaggtaaggcta	15	8	11	7	1	2	1	2	0	0	1	2	2	2	2	0	3	3	6	0	3	6	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:102691114C>T	ENST00000259400.6	+	3	314	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	STX17_ENST00000534052.1_Missense_Mutation_p.R60C|STX17_ENST00000525640.1_Missense_Mutation_p.R60C|RP11-60I3.4_ENST00000524512.1_RNA	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	60					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAATGCAGGACGTACAGTTCA	0.338																																																	0													85	89	88					9																	102691114		2203	4300	6503	SO:0001583	missense	0			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.178C>T	9.37:g.102691114C>T	ENSP00000259400:p.Arg60Cys		Q4VXC2	Missense_Mutation	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R60C	ENST00000259400.6	37	c.178	CCDS6745.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182595	0.78677	.	.	ENSG00000136874	ENST00000259400;ENST00000525640;ENST00000534052	T;T;T	0.24538	1.85;1.85;1.85	4.86	4.86	0.63082	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.976;0.994	T	0.45833	-0.9234	10	0.87932	D	0	-8.3548	15.1636	0.72803	0.0:1.0:0.0:0.0	.	60;60	P56962;B4DJ69	STX17_HUMAN;.	C	60	ENSP00000259400:R60C;ENSP00000435981:R60C;ENSP00000433484:R60C	ENSP00000259400:R60C	R	+	1	0	STX17	101730935	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	4.475000	0.60210	2.240000	0.73641	0.460000	0.39030	CGT	STX17	-	superfamily_t-SNARE	ENSG00000136874		0.338	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	STX17	HGNC	protein_coding	OTTHUMT00000053398.3	-	0	55	0	C	NM_017919		102691114	1	tier1	-	no_errors	ENST00000259400	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	T	T	102691114	C	T	102691114	3	4	4	1	0	0	0	0	1	0	0	0	15387	536	19	1	184	1	STX17	9	102691114	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	4679566	102691114	38522317	167	1078											
INVS	27130	genome.wustl.edu	37	chr9	103035315	103035315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgagacaggaaaaatCtcctcatgaagcatgaacag	15	7	8	11	1	2	3	1	2	1	1	4	5	3	4	3	1	2	1	3	1	4	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:103035315C>A	ENST00000262457.2	+	12	1926	c.1741C>A	c.(1741-1743)Ctc>Atc	p.L581I	INVS_ENST00000541287.1_Missense_Mutation_p.L485I|INVS_ENST00000262456.2_Missense_Mutation_p.L581I	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	581	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CAGGAAAAATCTCCTCATGAA	0.493																																																	0													135	129	131					9																	103035315		2203	4300	6503	SO:0001583	missense	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1741C>A	9.37:g.103035315C>A	ENSP00000262457:p.Leu581Ile		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.L581I	ENST00000262457.2	37	c.1741	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655411	0.88056	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.47528	0.84;0.85;0.99	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	L	0.51422	1.61	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.85130	0.992;0.997;0.928	T	0.58956	-0.7544	10	0.32370	T	0.25	.	19.2664	0.93988	0.0:1.0:0.0:0.0	.	485;581;581	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	I	581;485;581	ENSP00000262457:L581I;ENSP00000444454:L485I;ENSP00000262456:L581I	ENSP00000262456:L581I	L	+	1	0	INVS	102075136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.050000	0.71063	2.628000	0.89032	0.491000	0.48974	CTC	INVS	-	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	ENSG00000119509		0.493	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	-	0	75	0	C	NM_014425		103035315	1	tier1	-	no_errors	ENST00000262457	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	A	A	103035315	C	A	103035315	3	1	4	1	0	0	0	0	1	0	0	0	7814	913	32	3	1783	3	INVS	9	103035315	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	344201	103035315	38178116	168	1079											
TNC	3371	genome.wustl.edu	37	chr9	117826297	117826297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagttgagtttgagggCatcccagcccacctcggcca	8	8	11	14	1	0	2	0	2	0	0	3	2	2	2	5	2	1	3	5	2	0	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:117826297C>A	ENST00000350763.4	-	12	3949	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	TNC_ENST00000341037.4_Missense_Mutation_p.A1180S|TNC_ENST00000340094.3_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1180S|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1180	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGTTTGAGGGCATCCCAGCCC	0.522																																																	0													112	117	115					9																	117826297		2203	4300	6503	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3538G>T	9.37:g.117826297C>A	ENSP00000265131:p.Ala1180Ser		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A1180S	ENST00000350763.4	37	c.3538	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	3.228	-0.158046	0.06544	.	.	ENSG00000041982	ENST00000350763;ENST00000341037;ENST00000423613	T;T;T	0.47177	0.85;0.85;0.85	5.78	3.78	0.43462	Fibronectin, type III (4);	0.374296	0.25663	N	0.029133	T	0.26882	0.0658	N	0.16708	0.43	0.80722	D	1	B;B	0.19331	0.035;0.006	B;B	0.26864	0.074;0.026	T	0.08953	-1.0697	10	0.02654	T	1	.	9.9727	0.41763	0.2119:0.7122:0.0:0.0759	.	1180;1180	E9PC84;P24821	.;TENA_HUMAN	S	1180	ENSP00000265131:A1180S;ENSP00000339553:A1180S;ENSP00000411406:A1180S	ENSP00000339553:A1180S	A	-	1	0	TNC	116866118	0.673000	0.27539	1.000000	0.80357	0.968000	0.65278	0.362000	0.20284	1.443000	0.47586	0.655000	0.94253	GCC	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.522	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	33	0	C	NM_002160		117826297	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.999	A	A	117826297	C	A	117826297	3	1	4	1	0	0	0	0	1	0	0	0	16317	710	25	3	3135	3	TNC	9	117826297	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	14790982	117826297	23387134	169	1080											
DEC1	50514	genome.wustl.edu	37	chr9	118163485	118163485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctttaggtttttactgatgCcctgcacagagagaggtctg	8	14	11	8	0	2	3	0	1	2	2	2	4	2	3	1	2	3	2	1	2	2	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:118163485C>T	ENST00000374016.1	+	7	620	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	34					negative regulation of cell proliferation (GO:0008285)					kidney(1)|large_intestine(1)|ovary(1)	3						TTTACTGATGCCCTGCACAGA	0.478																																																	0													122	124	123					9																	118163485		2203	4300	6503	SO:0001583	missense	0			AB022761	CCDS6812.1	9q32	2008-02-05			ENSG00000173077	ENSG00000173077			23658	protein-coding gene	gene with protein product		604767				8603412, 10612805	Standard	NM_017418		Approved	CTS9	uc004bjk.1	Q9P2X7	OTTHUMG00000020549	ENST00000374016.1:c.101C>T	9.37:g.118163485C>T	ENSP00000363128:p.Ala34Val			Missense_Mutation	SNP	NULL	p.A34V	ENST00000374016.1	37	c.101	CCDS6812.1	9	.	.	.	.	.	.	.	.	.	.	C	8.018	0.759029	0.15846	.	.	ENSG00000173077	ENST00000374016	T	0.57273	0.41	3.37	-0.185	0.13276	.	.	.	.	.	T	0.34395	0.0896	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.17722	0.019	T	0.36890	-0.9729	8	0.87932	D	0	.	0.2334	0.00183	0.2301:0.1561:0.2358:0.378	.	34	Q9P2X7	DEC1_HUMAN	V	34	ENSP00000363128:A34V	ENSP00000363128:A34V	A	+	2	0	DEC1	117203306	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-0.157000	0.10085	-0.042000	0.13535	0.655000	0.94253	GCC	DEC1	-	NULL	ENSG00000173077		0.478	DEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEC1	HGNC	protein_coding	OTTHUMT00000053791.1	-	0	45	0	C	NM_017418		118163485	1	tier1	-	no_errors	ENST00000374016	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T	T	118163485	C	T	118163485	3	4	4	1	0	0	0	0	1	0	0	0	4390	739	26	3	111	3	DEC1	9	118163485	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	337188	118163485	23049946	170	1081											
DBC1	1620	genome.wustl.edu	37	chr9	121930039	121930039	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgatcaccatgtggatgaAgtccatgcggttcttgttgc	7	12	12	10	2	2	1	1	1	1	0	3	3	3	2	3	2	2	2	3	2	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:121930039A>C	ENST00000265922.3	-	8	2070	c.1609T>G	c.(1609-1611)Ttc>Gtc	p.F537V	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	537					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											ATGTGGATGAAGTCCATGCGG	0.557																																																	0																																										SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1609T>G	9.37:g.121930039A>C	ENSP00000265922:p.Phe537Val		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F537V	ENST00000265922.3	37	c.1609	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	A	12.22	1.871771	0.33069	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.13089	2.62	5.59	5.59	0.84812	.	0.049003	0.85682	D	0.000000	T	0.11196	0.0273	N	0.22421	0.69	0.58432	D	0.999998	B	0.27498	0.18	B	0.24701	0.055	T	0.13548	-1.0505	10	0.33940	T	0.23	-22.7916	15.7644	0.78114	1.0:0.0:0.0:0.0	.	537	O60477	DBC1_HUMAN	V	537	ENSP00000265922:F537V	ENSP00000265922:F537V	F	-	1	0	DBC1	120969860	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.204000	0.95041	2.110000	0.64415	0.533000	0.62120	TTC	BRINP1	-	NULL	ENSG00000078725		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	34	0	A	NM_014618		121930039	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	121930039	A	C	121930039	3	2	4	1	0	0	0	0	1	0	0	0	4256	72	3	4	680	4	DBC1	9	121930039	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	3766554	121930039	19283392	171	1082											
DBC1	1620	genome.wustl.edu	37	chr9	121930218	121930218	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagtccaggtcagtctcaAagctgatgaactgctcgctc	10	9	11	11	1	2	2	2	2	1	0	6	3	3	3	1	2	3	3	1	2	3	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:121930218A>C	ENST00000265922.3	-	8	1891	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	477					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GTCAGTCTCAAAGCTGATGAA	0.567																																																	0													194	148	164					9																	121930218		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1430T>G	9.37:g.121930218A>C	ENSP00000265922:p.Phe477Cys		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F477C	ENST00000265922.3	37	c.1430	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595866	0.46318	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.53857	0.6	5.55	5.55	0.83447	.	0.092150	0.85682	D	0.000000	T	0.51363	0.1670	L	0.47190	1.495	0.80722	D	1	P	0.51653	0.947	B	0.44044	0.439	T	0.58047	-0.7705	10	0.87932	D	0	-22.6345	15.6977	0.77512	1.0:0.0:0.0:0.0	.	477	O60477	DBC1_HUMAN	C	477	ENSP00000265922:F477C	ENSP00000265922:F477C	F	-	2	0	DBC1	120970039	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.248000	0.95456	2.101000	0.63845	0.533000	0.62120	TTT	BRINP1	-	NULL	ENSG00000078725		0.567	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	22	0	A	NM_014618		121930218	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	52.38	10	11	SNP	1.000	C	C	121930218	A	C	121930218	3	2	4	1	0	0	0	0	1	0	0	0	4256	14	1	4	859	4	DBC1	9	121930218	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	179	121930218	19283213	172	1083											
LMX1B	4010	genome.wustl.edu	37	chr9	129453223	129453223	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttctgctgctgcgtGtgtgaacggcagctacgcaa	6	10	14	11	3	1	1	0	1	1	0	1	1	1	1	0	2	7	7	0	2	3	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:129453223G>T	ENST00000373474.4	+	3	442	c.435G>T	c.(433-435)gtG>gtT	p.V145V	LMX1B_ENST00000526117.1_Silent_p.V145V|LMX1B_ENST00000355497.5_Silent_p.V145V|LMX1B_ENST00000561065.1_Silent_p.V122V|LMX1B_ENST00000425646.2_Silent_p.V122V			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	145	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCTGCTGCGTGTGTGAACGGC	0.632									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													85	66	72					9																	129453223		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.435G>T	9.37:g.129453223G>T			F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.V145	ENST00000373474.4	37	c.435	CCDS55342.1	9																																																																																			LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136944		0.632	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	-	0	88	0	G			129453223	1	tier1	-	no_errors	ENST00000355497	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	129453223	G	T	129453223	2	4	4	1	0	0	0	0	0	0	0	1	8892	1364	48	3		3	LMX1B	9	129453223	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	7523005	129453223	11760208	173	1084											
ANGPTL2	23452	genome.wustl.edu	37	chr9	129870853	129870853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgaaggtgtaggtgcacTtgtcctgggactcgcccgcc	7	9	13	12	2	0	1	0	1	0	0	2	2	1	2	3	3	1	2	3	3	3	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:129870853T>A	ENST00000373425.3	-	2	775	c.158A>T	c.(157-159)aAg>aTg	p.K53M	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	53					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GTAGGTGCACTTGTCCTGGGA	0.587																																																	0													78	61	67					9																	129870853		2203	4300	6503	SO:0001583	missense	0			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.158A>T	9.37:g.129870853T>A	ENSP00000362524:p.Lys53Met		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.K53M	ENST00000373425.3	37	c.158	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439927	0.83885	.	.	ENSG00000136859	ENST00000373425	T	0.59906	0.23	5.11	5.11	0.69529	.	0.214552	0.47455	D	0.000223	T	0.74099	0.3672	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.77928	-0.2404	10	0.87932	D	0	.	14.922	0.70847	0.0:0.0:0.0:1.0	.	53	Q9UKU9	ANGL2_HUMAN	M	53	ENSP00000362524:K53M	ENSP00000362524:K53M	K	-	2	0	ANGPTL2	128910674	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	1.927000	0.55829	0.533000	0.62120	AAG	ANGPTL2	-	NULL	ENSG00000136859		0.587	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	-	0	46	0	T	NM_012098		129870853	-1	tier1	-	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A	A	129870853	T	A	129870853	3	1	4	1	0	0	0	0	1	0	0	0	614	1609	56	5	1339	5	ANGPTL2	9	129870853	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	417630	129870853	11342578	174	1085											
CACNA1B	774	genome.wustl.edu	37	chr9	140773593	140773593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgatggggacaaaacGcccatgtccgagcggctggt	8	7	13	13	3	0	1	0	1	0	0	2	3	2	2	3	4	2	1	3	4	2	0	rs199609079		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr9:140773593G>A	ENST00000371372.1	+	2	517	c.372G>A	c.(370-372)acG>acA	p.T124T	CACNA1B_ENST00000371357.1_Silent_p.T124T|CACNA1B_ENST00000371355.4_Silent_p.T124T|CACNA1B_ENST00000277551.2_Silent_p.T124T|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.T124T|RP11-188C12.3_ENST00000371390.1_RNA	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	124					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGACAAAACGCCCATGTCCG	0.607																																																	0													42	48	46					9																	140773593		2139	4256	6395	SO:0001819	synonymous_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.372G>A	9.37:g.140773593G>A			B1AQK5	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.T124	ENST00000371372.1	37	c.372	CCDS59522.1	9																																																																																			CACNA1B	-	NULL	ENSG00000148408		0.607	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	-	0	65	0	G	NM_000718		140773593	1	tier1	-	no_errors	ENST00000371355	ensembl	human	known	74_37	silent	25.45	40	14	SNP	0.754	A	A	140773593	G	A	140773593	2	1	4	1	0	0	0	0	0	0	0	1	2546	1074	38	1		1	CACNA1B	9	140773593	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10902740	140773593	439838	175	1086											
DIP2C	22982	genome.wustl.edu	37	chr10	390977	390979	+	In_Frame_Del	DEL	GCC	GCC	-																															gccacgtcctgacgtccacaGccgccgccgcctccctggac																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:390977_390979delGCC	ENST00000280886.6	-	27	3390_3392	c.3303_3305delGGC	c.(3301-3306)gcggct>gct	p.1101_1102AA>A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1101						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A1102delA(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACGTCCACAGCCGCCGCCGCCT	0.596																																																	1	Deletion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3303_3305delGGC	10.37:g.390986_390988delGCC	ENSP00000280886:p.Ala1102del		B4DPI5|Q5SS78	In_Frame_Del	DEL	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A1102in_frame_del	ENST00000280886.6	37	c.3305_3303	CCDS7054.1	10																																																																																			DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.596	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1		0	52	0	GCC	NM_014974		390979	-1	tier1		no_errors	ENST00000280886	ensembl	human	known	74_37	in_frame_del	9.68	28	3	DEL	0.979:0.971:0.194	-	-	390979	GCC	-	390977	7	5	4	1	0	1	0	1	0	0	0	0	4543	971	34	0	1409	0	DIP2C	10	390977	In_Frame_Del	DEL	GCC	TCGA-2H-A9GI-01A-11D-A37C-09		390977	135143770	176	1087											
MYO3A	53904	genome.wustl.edu	37	chr10	26455097	26455097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcgataactgggctcttgGaaaaacaaaagtaatgtttt	14	13	8	6	1	2	0	0	0	2	0	3	2	2	1	0	2	2	3	0	2	6	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:26455097G>T	ENST00000265944.5	+	27	3267	c.3101G>T	c.(3100-3102)gGa>gTa	p.G1034V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1034	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGGCTCTTGGAAAAACAAAA	0.398																																																	0													82	88	86					10																	26455097		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3101G>T	10.37:g.26455097G>T	ENSP00000265944:p.Gly1034Val		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.G1034V	ENST00000265944.5	37	c.3101	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937700	0.92458	.	.	ENSG00000095777	ENST00000265944	D	0.98684	-5.07	6.16	6.16	0.99307	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99641	0.9868	H	0.99415	4.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97479	1.0046	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1034	Q8NEV4	MYO3A_HUMAN	V	1034	ENSP00000265944:G1034V	ENSP00000265944:G1034V	G	+	2	0	MYO3A	26495103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.208000	0.95075	2.937000	0.99478	0.650000	0.86243	GGA	MYO3A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000095777		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0	67	0	G	NM_017433		26455097	1			no_errors	ENST00000265944	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	26455097	G	T	26455097	3	4	4	1	0	0	0	0	1	0	0	0	10114	1174	41	3	3199	3	MYO3A	10	26455097	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	26064120	26455097	109079650	177	1088											
ERCC6	2074	genome.wustl.edu	37	chr10	50681583	50681583	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtggtaccatccatcttGagataggtatacttttgggc	9	14	11	7	0	1	1	0	1	1	1	2	2	2	1	2	3	2	3	2	3	5	8			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:50681583G>T	ENST00000355832.5	-	14	2727	c.2649C>A	c.(2647-2649)ctC>ctA	p.L883L	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.L253L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	883	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATCCATCTTGAGATAGGTAT	0.433								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													351	279	304					10																	50681583		2203	4300	6503	SO:0001819	synonymous_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2649C>A	10.37:g.50681583G>T			D3DX94|Q5W0L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L883	ENST00000355832.5	37	c.2649	CCDS7229.1	10																																																																																			ERCC6	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000225830		0.433	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0	64	0	G	NM_000124		50681583	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T	T	50681583	G	T	50681583	2	4	4	1	0	0	0	0	0	0	0	1	5233	1277	45	3		3	ERCC6	10	50681583	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	24226486	50681583	84853164	178	1089											
LCOR	84458	genome.wustl.edu	37	chr10	98715673	98715673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgcaaatgaatcaaaaaaCgagtaggaatactgtagagt	19	8	10	4	1	1	2	1	1	0	1	1	4	1	3	0	1	3	3	0	1	9	3	rs200510779		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:98715673C>A	ENST00000371097.4	+	8	1842	c.1296C>A	c.(1294-1296)aaC>aaA	p.N432K	LCOR_ENST00000540664.1_Intron|LCOR_ENST00000371103.3_Missense_Mutation_p.N432K|LCOR_ENST00000356016.3_Missense_Mutation_p.N432K|LCOR_ENST00000498444.1_Intron			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	432					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		AATCAAAAAACGAGTAGGAAT	0.403																																																	0													34	33	33					10																	98715673		2203	4299	6502	SO:0001583	missense	0				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.1296C>A	10.37:g.98715673C>A	ENSP00000360138:p.Asn432Lys		D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.N432K	ENST00000371097.4	37	c.1296	CCDS7451.1	10	.	.	.	.	.	.	.	.	.	.	C	9.695	1.153017	0.21371	.	.	ENSG00000196233	ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.52	-5.99	0.02213	.	0.314809	0.38272	N	0.001756	T	0.30696	0.0773	N	0.08118	0	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.01401	-1.1364	9	0.36615	T	0.2	0.0015	14.4024	0.67056	0.0:0.2572:0.0:0.7428	.	432	Q96JN0	LCOR_HUMAN	K	432	.	ENSP00000348298:N432K	N	+	3	2	LCOR	98705663	0.797000	0.28877	0.774000	0.31636	0.993000	0.82548	-0.362000	0.07602	-1.293000	0.02362	-0.266000	0.10368	AAC	LCOR	-	NULL	ENSG00000196233		0.403	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LCOR	HGNC	protein_coding	OTTHUMT00000049628.2		0	43	0	C			98715673	1			no_errors	ENST00000356016	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.964	A	A	98715673	C	A	98715673	3	1	4	1	0	0	0	0	1	0	0	0	8717	535	19	2	1306	2	LCOR	10	98715673	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	48034090	98715673	36819074	179	1090											
C10orf12	26148	genome.wustl.edu	37	chr10	98744778	98744778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagagtagtggaaagactCgggccagaccctcaacgaaa	15	4	12	10	2	1	3	1	0	0	3	2	5	1	4	2	2	2	2	2	2	4	1	rs140878269		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:98744778C>T	ENST00000286067.2	+	1	3738	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1211								p.R1211W(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TGGAAAGACTCGGGCCAGACC	0.547																																																	1	Substitution - Missense(1)	skin(1)											49	53	51					10																	98744778		2203	4300	6503	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3631C>T	10.37:g.98744778C>T	ENSP00000286067:p.Arg1211Trp		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.R1211W	ENST00000286067.2	37	c.3631	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841393	0.32513	.	.	ENSG00000155640	ENST00000286067	T	0.08008	3.14	5.31	0.725	0.18242	.	0.839573	0.09655	U	0.773135	T	0.10423	0.0255	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.62298	0.9	T	0.32295	-0.9912	10	0.66056	D	0.02	-5.859	4.7926	0.13256	0.222:0.5488:0.0986:0.1306	.	1211	Q8N655	CJ012_HUMAN	W	1211	ENSP00000286067:R1211W	ENSP00000286067:R1211W	R	+	1	2	C10orf12	98734768	0.004000	0.15560	0.003000	0.11579	0.733000	0.41908	1.101000	0.31037	0.229000	0.21039	-0.310000	0.09108	CGG	C10orf12	-	NULL	ENSG00000155640		0.547	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1		0	38	0	C	NM_015652		98744778	1			no_errors	ENST00000286067	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.000	T	T	98744778	C	T	98744778	3	4	4	1	0	0	0	0	1	0	0	0	1594	875	31	1	3633	1	C10orf12	10	98744778	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	29105	98744778	36789969	180	1091											
SEC31B	25956	genome.wustl.edu	37	chr10	102248621	102248621	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcagacttactaagtcAgttgcagacagggagcagcg	12	8	13	8	1	2	2	2	0	0	2	2	3	2	3	0	2	4	4	0	2	2	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:102248621A>G	ENST00000370345.3	-	24	3379	c.3282T>C	c.(3280-3282)acT>acC	p.T1094T		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1094					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TTACTAAGTCAGTTGCAGACA	0.567																																																	0													99	96	97					10																	102248621		2203	4300	6503	SO:0001819	synonymous_variant	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3282T>C	10.37:g.102248621A>G			B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1094	ENST00000370345.3	37	c.3282	CCDS7495.1	10																																																																																			SEC31B	-	NULL	ENSG00000075826		0.567	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1		0	55	0	A	NM_015490		102248621	-1			no_errors	ENST00000370345	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.077	G	G	102248621	A	G	102248621	2	3	4	1	0	0	0	0	0	0	0	1	14044	175	7	4		4	SEC31B	10	102248621	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	3503843	102248621	33286126	181	1092											
SORCS3	22986	genome.wustl.edu	37	chr10	106907421	106907421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaagtatttgctgcggTccaagaatggaaccagaacg	14	7	11	9	2	0	2	0	0	0	2	1	4	1	3	3	2	5	2	3	2	7	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:106907421T>C	ENST00000369701.3	+	9	1576	c.1349T>C	c.(1348-1350)gTc>gCc	p.V450A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	450					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTTGCTGCGGTCCAAGAATGG	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)												0													237	189	205					10																	106907421		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1349T>C	10.37:g.106907421T>C	ENSP00000358715:p.Val450Ala		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V450A	ENST00000369701.3	37	c.1349	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	24.2	4.509389	0.85282	.	.	ENSG00000156395	ENST00000369701	T	0.38887	1.11	5.27	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.82323	2.585	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.71414	-0.4600	10	0.56958	D	0.05	.	15.4904	0.75602	0.0:0.0:0.0:1.0	.	450	Q9UPU3	SORC3_HUMAN	A	450	ENSP00000358715:V450A	ENSP00000358715:V450A	V	+	2	0	SORCS3	106897411	1.000000	0.71417	0.931000	0.37212	0.836000	0.47400	6.249000	0.72427	2.133000	0.65898	0.528000	0.53228	GTC	SORCS3	-	smart_VPS10	ENSG00000156395		0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	74	0	T	NM_014978		106907421	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	C	C	106907421	T	C	106907421	3	2	4	1	0	0	0	0	1	0	0	0	14977	1667	58	4	1383	4	SORCS3	10	106907421	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	4658800	106907421	28627326	182	1093											
ATRNL1	26033	genome.wustl.edu	37	chr10	117059700	117059700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagggctgcagtggcaggcTtaaaagctaatccttgtaca	13	9	11	8	0	0	0	0	0	0	0	1	0	1	0	1	3	3	6	1	3	5	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:117059700T>C	ENST00000355044.3	+	16	2698	c.2572T>C	c.(2572-2574)Tta>Cta	p.L858L	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	858	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGTGGCAGGCTTAAAAGCTAA	0.418																																																	0													82	80	81					10																	117059700		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2572T>C	10.37:g.117059700T>C			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.L858	ENST00000355044.3	37	c.2572	CCDS7592.1	10																																																																																			ATRNL1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000107518		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	73	0	T	XM_049349		117059700	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	28.57	35	14	SNP	0.845	C	C	117059700	T	C	117059700	2	2	4	1	0	0	0	0	0	0	0	1	1208	1606	56	4		4	ATRNL1	10	117059700	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	10152279	117059700	18475047	183	1094											
DMBT1	1755	genome.wustl.edu	37	chr10	124358439	124358439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctgcaggcaactgggcTgtggctgggccatgtcagcc	5	9	15	12	1	2	0	1	0	1	0	3	0	2	0	2	4	3	4	2	4	1	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:124358439T>C	ENST00000338354.3	+	26	3212	c.3106T>C	c.(3106-3108)Tgt>Cgt	p.C1036R	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.C537R|DMBT1_ENST00000368909.3_Missense_Mutation_p.C1036R|DMBT1_ENST00000368955.3_Missense_Mutation_p.C1026R|DMBT1_ENST00000344338.3_Missense_Mutation_p.C1026R|DMBT1_ENST00000330163.4_Missense_Mutation_p.C537R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1036	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAACTGGGCTGTGGCTGGGC	0.602																																					Ovarian(182;93 2026 18125 22222 38972)												0													221	221	221					10																	124358439		2019	4199	6218	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3106T>C	10.37:g.124358439T>C	ENSP00000342210:p.Cys1036Arg		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.C1036R	ENST00000338354.3	37	c.3106		10	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508242	0.64410	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	3.57	3.57	0.40892	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.809051	0.10510	U	0.666262	T	0.73737	0.3625	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.91635	0.849;0.998;0.999;0.999	T	0.75906	-0.3152	10	0.72032	D	0.01	.	12.5079	0.55991	0.0:0.0:0.0:1.0	.	1036;537;1026;1036	Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	R	1036;1036;1036;1036;1036;1036;537;1026;537;537;1036;1026;537	ENSP00000342210:C1036R;ENSP00000343175:C1026R;ENSP00000327747:C537R;ENSP00000357905:C1036R;ENSP00000357951:C1026R;ENSP00000357952:C537R	ENSP00000331522:C537R	C	+	1	0	DMBT1	124348429	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.446000	0.80609	1.402000	0.46780	0.456000	0.33151	TGT	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.602	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0	224	0	T	NM_004406		124358439	1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	38.80	112	71	SNP	1.000	C	C	124358439	T	C	124358439	3	2	4	1	0	0	0	0	1	0	0	0	4591	1580	55	4	3208	4	DMBT1	10	124358439	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	7298739	124358439	11176308	184	1095											
GPR26	2849	genome.wustl.edu	37	chr10	125426536	125426536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccgcttccattgcaagCgcatcgacgtgatcaccatg	8	9	10	14	4	1	1	1	1	0	0	3	2	2	1	3	1	2	3	3	1	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr10:125426536C>A	ENST00000284674.1	+	1	666	c.613C>A	c.(613-615)Cgc>Agc	p.R205S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	205					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R205S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCATTGCAAGCGCATCGACGT	0.632																																																	1	Substitution - Missense(1)	lung(1)											29	21	24					10																	125426536		2203	4300	6503	SO:0001583	missense	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.613C>A	10.37:g.125426536C>A	ENSP00000284674:p.Arg205Ser		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R205S	ENST00000284674.1	37	c.613	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840928	0.71488	.	.	ENSG00000154478	ENST00000284674	T	0.71934	-0.61	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.071404	0.52532	D	0.000074	D	0.83857	0.5345	M	0.88979	2.995	0.58432	D	0.999995	D	0.69078	0.997	D	0.67103	0.949	D	0.86276	0.1664	10	0.72032	D	0.01	-20.6647	10.6801	0.45809	0.3298:0.6702:0.0:0.0	.	205	Q8NDV2	GPR26_HUMAN	S	205	ENSP00000284674:R205S	ENSP00000284674:R205S	R	+	1	0	GPR26	125416526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.248000	0.32827	2.067000	0.61834	0.655000	0.94253	CGC	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM	ENSG00000154478		0.632	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1		0	40	0	C			125426536	1			no_errors	ENST00000284674	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	A	A	125426536	C	A	125426536	3	1	4	1	0	0	0	0	1	0	0	0	6710	768	27	2	615	2	GPR26	10	125426536	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1068097	125426536	10108211	185	1096											
OR51F1	256892	genome.wustl.edu	37	chr11	4790663	4790663	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaggcttaaggagcaaaAgtagtggcaatattagtact	16	9	12	4	0	0	1	0	0	0	1	0	3	0	2	0	3	2	5	0	3	8	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:4790663A>C	ENST00000380383.1	-	1	505	c.506T>G	c.(505-507)cTt>cGt	p.L169R	OR51F1_ENST00000343430.3_Missense_Mutation_p.L162R|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L162R(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAGCAAAAGTAGTGGCAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											119	118	119					11																	4790663		2201	4298	6499	SO:0001583	missense	0			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.506T>G	11.37:g.4790663A>C	ENSP00000369744:p.Leu169Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L169R	ENST00000380383.1	37	c.506		11	.	.	.	.	.	.	.	.	.	.	A	8.756	0.922562	0.18056	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00169	8.63;8.63	5.03	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.270315	0.26654	N	0.023197	T	0.00608	0.0020	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27434	-1.0074	10	0.62326	D	0.03	.	10.171	0.42911	0.8506:0.0:0.0:0.1494	.	169	A6NGY5	O51F1_HUMAN	R	162;169	ENSP00000345163:L162R;ENSP00000369744:L169R	ENSP00000345163:L162R	L	-	2	0	OR51F1	4747239	0.001000	0.12720	0.044000	0.18714	0.003000	0.03518	0.788000	0.26872	0.916000	0.36871	0.533000	0.62120	CTT	OR51F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188069		0.398	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding		-	0	53	0	A	NM_001004752		4790663	-1	tier1	-	no_errors	ENST00000380383	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.102	C	C	4790663	A	C	4790663	3	2	4	1	0	0	0	0	1	0	0	0	11135	72	3	4	456	4	OR51F1	11	4790663	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09		4790663	130215853	186	1097											
TRIM6	117854	genome.wustl.edu	37	chr11	5626645	5626645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctagacagagtggagcaaCgggagctgaaaaagctggaa	15	5	14	7	1	0	3	0	1	0	2	1	6	1	6	1	3	4	3	1	3	5	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:5626645C>T	ENST00000278302.5	+	4	738	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000515022.1_Missense_Mutation_p.R25W|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R228W|TRIM6_ENST00000445329.1_Missense_Mutation_p.R25W|TRIM6_ENST00000380097.3_Missense_Mutation_p.R228W|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.R25W|TRIM6_ENST00000380107.1_Missense_Mutation_p.R174W|TRIM6_ENST00000506134.1_Missense_Mutation_p.R25W	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	200					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGTGGAGCAACGGGAGCTGAA	0.488											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													91	94	93					11																	5626645		2201	4297	6498	SO:0001583	missense	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.598C>T	11.37:g.5626645C>T	ENSP00000278302:p.Arg200Trp	627	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R228W	ENST00000278302.5	37	c.682	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379592	0.61845	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.30448	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;1.53	4.87	3.96	0.45880	.	.	.	.	.	T	0.57373	0.2049	M	0.86028	2.79	0.23150	N	0.998211	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.917;0.949;0.999;0.998	T	0.49031	-0.8981	9	0.87932	D	0	.	9.7352	0.40384	0.0:0.9015:0.0:0.0985	.	25;174;228;228;200	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	W	200;25;25;174;228;25;107;25;25;228;228	ENSP00000278302:R200W;ENSP00000414108:R25W;ENSP00000427704:R25W;ENSP00000369450:R174W;ENSP00000369440:R228W;ENSP00000399215:R25W;ENSP00000421802:R25W;ENSP00000421079:R25W;ENSP00000346916:R228W	ENSP00000278302:R200W	R	+	1	2	TRIM34;TRIM6;TRIM6-TRIM34	5583221	0.022000	0.18835	0.986000	0.45419	0.775000	0.43874	0.218000	0.17622	1.380000	0.46344	0.655000	0.94253	CGG	TRIM6-TRIM34	-	NULL	ENSG00000258588		0.488	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	-	0	60	0	C	NM_001003818		5626645	1	tier1	-	no_errors	ENST00000354852	ensembl	human	known	74_37	missense	60.53	15	23	SNP	0.987	T	T	5626645	C	T	5626645	3	4	4	1	0	0	0	0	1	0	0	0	16581	527	19	1	696	1	TRIM6	11	5626645	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	835982	5626645	129379871	187	1098											
LMO1	4004	genome.wustl.edu	37	chr11	8248574	8248574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgatacacgttgtcccGggcccgcatcaccatctcga	8	8	11	14	4	2	1	1	1	1	0	4	3	3	1	3	2	1	2	3	2	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:8248574G>A	ENST00000335790.3	-	3	808	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	LMO1_ENST00000534484.1_Missense_Mutation_p.R94W|LMO1_ENST00000428101.2_Missense_Mutation_p.R104W	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	105	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACGTTGTCCCGGGCCCGCATC	0.632			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma																																	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	0													55	63	61					11																	8248574		2110	4239	6349	SO:0001583	missense	0			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.313C>T	11.37:g.8248574G>A	ENSP00000338207:p.Arg105Trp		E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R105W	ENST00000335790.3	37	c.313	CCDS44534.1	11	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102316	0.76983	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	T;T;T	0.46451	0.87;0.87;0.87	5.58	3.58	0.41010	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.89840	3.065	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.72982	0.968;0.979	T	0.76987	-0.2755	10	0.87932	D	0	.	13.6124	0.62088	0.0:0.0:0.6119:0.3881	.	104;105	E9PSF5;P25800	.;RBTN1_HUMAN	W	105;104;94	ENSP00000338207:R105W;ENSP00000404538:R104W;ENSP00000435456:R94W	ENSP00000338207:R105W	R	-	1	2	LMO1	8205150	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.600000	0.67599	1.331000	0.45412	0.655000	0.94253	CGG	LMO1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000166407		0.632	LMO1-001	KNOWN	basic|CCDS	protein_coding	LMO1	HGNC	protein_coding	OTTHUMT00000386503.2	-	0	62	0	G	NM_002315		8248574	-1	tier1	-	no_errors	ENST00000335790	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	A	A	8248574	G	A	8248574	3	1	4	1	0	0	0	0	1	0	0	0	8881	1115	39	1	165	1	LMO1	11	8248574	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	2621929	8248574	126757942	188	1099											
NELL1	4745	genome.wustl.edu	37	chr11	21592442	21592442	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtcacaagctgtatcgaAgtggagacaattggacccat	13	9	11	8	1	1	1	1	0	0	1	2	4	1	2	1	3	1	2	1	3	4	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:21592442A>G	ENST00000357134.5	+	18	2265	c.2113A>G	c.(2113-2115)Agt>Ggt	p.S705G	NELL1_ENST00000298925.5_Missense_Mutation_p.S733G|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.S658G|NELL1_ENST00000325319.5_Missense_Mutation_p.S648G	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	705	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCTGTATCGAAGTGGAGACAA	0.443																																																	0													197	184	189					11																	21592442		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2113A>G	11.37:g.21592442A>G	ENSP00000349654:p.Ser705Gly		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.S705G	ENST00000357134.5	37	c.2113	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167880	0.78339	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.16	6.16	0.99307	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.84683	2.71	0.54753	D	0.999986	D;D;D;D;D	0.69078	0.99;0.977;0.996;0.997;0.977	P;P;D;D;P	0.68765	0.825;0.891;0.936;0.96;0.891	T	0.79361	-0.1835	10	0.29301	T	0.29	-26.5406	16.8061	0.85666	1.0:0.0:0.0:0.0	.	648;733;250;658;705	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	G	733;705;648;658	ENSP00000298925:S733G;ENSP00000349654:S705G;ENSP00000317837:S648G;ENSP00000437170:S658G	ENSP00000298925:S733G	S	+	1	0	NELL1	21549018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.935000	0.92923	2.367000	0.80283	0.528000	0.53228	AGT	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.443	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0	96	0	A	NM_006157		21592442	1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	22.73	32	10	SNP	1.000	G	G	21592442	A	G	21592442	3	3	4	1	0	0	0	0	1	0	0	0	10372	72	3	4	2183	4	NELL1	11	21592442	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	13343868	21592442	113414074	189	1100											
MPPED2	744	genome.wustl.edu	37	chr11	30439101	30439101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcatgagtatgtcaatgcCctcagggatgaggttccact	9	12	11	9	0	3	2	3	2	0	0	4	3	4	3	2	2	1	2	2	2	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:30439101C>T	ENST00000358117.5	-	4	738	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Missense_Mutation_p.G206S	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	206					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						ATGTCAATGCCCTCAGGGATG	0.473																																																	0													124	106	113					11																	30439101		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.616G>A	11.37:g.30439101C>T	ENSP00000350833:p.Gly206Ser		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.G206S	ENST00000358117.5	37	c.616	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.533810	0.96460	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	T;T	0.40476	1.03;1.03	5.78	5.78	0.91487	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.52905	1.665	0.80722	D	1	B;B	0.28400	0.041;0.21	B;B	0.25884	0.061;0.064	T	0.18116	-1.0347	10	0.31617	T	0.26	-11.4349	20.0022	0.97423	0.0:1.0:0.0:0.0	.	206;206	Q15777;E9PB10	MPPD2_HUMAN;.	S	206	ENSP00000388258:G206S;ENSP00000350833:G206S	ENSP00000350833:G206S	G	-	1	0	MPPED2	30395677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.738000	0.93877	0.655000	0.94253	GGC	MPPED2	-	pfam_PEstase_dom	ENSG00000066382		0.473	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0	51	0	C	NM_001584		30439101	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T	T	30439101	C	T	30439101	3	4	4	1	0	0	0	0	1	0	0	0	9780	623	22	3	352	3	MPPED2	11	30439101	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	8846659	30439101	104567415	190	1101											
OR4C3	256144	genome.wustl.edu	37	chr11	48346846	48346846	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaggggagaaccatctcTtatgagtgctgcatggctca	10	11	12	8	0	2	3	1	2	1	1	3	4	2	3	1	3	3	3	1	3	3	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:48346846T>C	ENST00000319856.4	+	1	375	c.354T>C	c.(352-354)tcT>tcC	p.S118S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAACCATCTCTTATGAGTGCT	0.438																																																	0													256	243	247					11																	48346846		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.354T>C	11.37:g.48346846T>C			B2RNF2|Q6IFB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S118	ENST00000319856.4	37	c.354	CCDS31489.1	11																																																																																			OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176547		0.438	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	-	0	111	0	T	NM_001004702		48346846	1	tier1	-	no_errors	ENST00000319856	ensembl	human	known	74_37	silent	20.31	51	13	SNP	0.020	C	C	48346846	T	C	48346846	2	2	4	1	0	0	0	0	0	0	0	1	11089	1596	56	4		4	OR4C3	11	48346846	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	17907745	48346846	86659670	191	1102											
FOLH1	2346	genome.wustl.edu	37	chr11	49168407	49168407	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggccttggaagggtccacTttgctttcaatatcaaacag	11	11	9	10	0	2	0	2	0	0	0	3	1	3	1	2	3	2	1	2	3	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:49168407T>G	ENST00000256999.2	-	19	2414	c.2154A>C	c.(2152-2154)aaA>aaC	p.K718N	FOLH1_ENST00000343844.4_Missense_Mutation_p.K410N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K672N|FOLH1_ENST00000340334.7_Missense_Mutation_p.K703N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K687N	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	718					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AAGGGTCCACTTTGCTTTCAA	0.468																																																	0													132	127	128					11																	49168407		2201	4298	6499	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.2154A>C	11.37:g.49168407T>G	ENSP00000256999:p.Lys718Asn		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.K718N	ENST00000256999.2	37	c.2154	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	9.145	1.014767	0.19355	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	3.4	2.25	0.28309	Transferrin receptor-like, dimerisation domain (3);	0.562819	0.16994	N	0.191188	T	0.40067	0.1102	L	0.41961	1.31	0.23132	N	0.998243	B;B;B;B	0.25312	0.123;0.066;0.024;0.003	B;B;B;B	0.24701	0.055;0.018;0.025;0.009	T	0.22906	-1.0203	10	0.30854	T	0.27	.	6.6989	0.23215	0.0:0.1222:0.0:0.8778	.	672;703;687;718	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	N	718;687;703;410;672	ENSP00000256999:K718N;ENSP00000349129:K687N;ENSP00000344131:K703N;ENSP00000344086:K410N;ENSP00000431463:K672N	ENSP00000256999:K718N	K	-	3	2	FOLH1	49124983	0.009000	0.17119	0.012000	0.15200	0.893000	0.52053	0.019000	0.13444	0.491000	0.27793	0.496000	0.49642	AAA	FOLH1	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000086205		0.468	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	112	0	T	NM_004476		49168407	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	23.19	53	16	SNP	0.317	G	G	49168407	T	G	49168407	3	3	4	1	0	0	0	0	1	0	0	0	6001	1606	56	4	102	4	FOLH1	11	49168407	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	821561	49168407	85838109	192	1103											
OR4C15	81309	genome.wustl.edu	37	chr11	55322171	55322171	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgcttctcatctgtcaTcaccccaaagatgattgtag	9	13	8	11	1	4	2	3	1	2	1	5	2	4	2	2	0	2	2	2	0	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55322171T>G	ENST00000314644.2	+	1	389	c.389T>G	c.(388-390)aTc>aGc	p.I130S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCATCTGTCATCACCCCAAAG	0.473										HNSCC(20;0.049)																																							0													186	155	166					11																	55322171		2201	4296	6497	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.389T>G	11.37:g.55322171T>G	ENSP00000324958:p.Ile130Ser		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I130S	ENST00000314644.2	37	c.389	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767590	0.31320	.	.	ENSG00000181939	ENST00000314644	T	0.01152	5.26	5.12	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02119	0.0066	L	0.48877	1.53	0.09310	N	1	P	0.45044	0.849	P	0.47346	0.544	T	0.50048	-0.8873	9	0.39692	T	0.17	.	8.9884	0.36008	0.0:0.0879:0.0:0.9121	.	76	Q8NGM1	OR4CF_HUMAN	S	130	ENSP00000324958:I130S	ENSP00000324958:I130S	I	+	2	0	OR4C15	55078747	0.000000	0.05858	0.006000	0.13384	0.692000	0.40212	-0.402000	0.07223	0.974000	0.38366	0.317000	0.21355	ATC	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181939		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	-	0	65	0	T	NM_001001920		55322171	1	tier1	-	no_errors	ENST00000314644	ensembl	human	known	74_37	missense	20.63	50	13	SNP	0.002	G	G	55322171	T	G	55322171	3	3	4	1	0	0	0	0	1	0	0	0	11087	1435	50	4	391	4	OR4C15	11	55322171	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	6153764	55322171	79684345	193	1104											
OR4P4	81300	genome.wustl.edu	37	chr11	55406320	55406320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagtttcttctcaccatcTttgtaccattttgtggccca	6	17	6	12	0	4	0	2	0	3	0	5	0	4	0	3	1	1	2	3	1	1	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55406320T>C	ENST00000314612.2	+	1	487	c.487T>C	c.(487-489)Ttt>Ctt	p.F163L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCTCACCATCTTTGTACCATT	0.383																																																	0													86	74	78					11																	55406320		2182	4006	6188	SO:0001583	missense	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.487T>C	11.37:g.55406320T>C	ENSP00000324831:p.Phe163Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F163L	ENST00000314612.2	37	c.487	CCDS31504.1	11	.	.	.	.	.	.	.	.	.	.	T	0.203	-1.043042	0.01997	.	.	ENSG00000181927	ENST00000314612	T	0.00002	9.86	5.37	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	0.775582	0.10939	N	0.617533	T	0.00039	0.0001	N	0.04746	-0.17	0.09310	N	1	B	0.10296	0.003	B	0.15484	0.013	T	0.00857	-1.1538	10	0.23302	T	0.38	-12.2047	2.3601	0.04305	0.3668:0.2587:0.0:0.3745	.	163	Q8NGL7	OR4P4_HUMAN	L	163	ENSP00000324831:F163L	ENSP00000324831:F163L	F	+	1	0	OR4P4	55162896	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-2.920000	0.00694	0.858000	0.35431	-0.312000	0.09012	TTT	OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181927		0.383	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1	-	0	59	0	T	NM_001004124		55406320	1	tier1	-	no_errors	ENST00000314612	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.000	C	C	55406320	T	C	55406320	3	2	4	1	0	0	0	0	1	0	0	0	11119	1609	56	4	489	4	OR4P4	11	55406320	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	84149	55406320	79600196	194	1105											
OR4S2	219431	genome.wustl.edu	37	chr11	55418427	55418427	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattttctggggtctttcTcagagcccagagattgagaa	9	14	10	8	0	4	3	2	1	3	3	5	5	4	3	1	2	1	0	1	2	1	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55418427T>C	ENST00000312422.2	+	1	48	c.48T>C	c.(46-48)tcT>tcC	p.S16S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGTCTTTCTCAGAGCCCAG	0.358																																																	0													73	66	68					11																	55418427		2178	4007	6185	SO:0001819	synonymous_variant	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.48T>C	11.37:g.55418427T>C			Q6IF72	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S16	ENST00000312422.2	37	c.48	CCDS31505.1	11																																																																																			OR4S2	-	NULL	ENSG00000174982		0.358	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0	56	0	T	NM_001004059		55418427	1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	silent	74.67	19	56	SNP	0.042	C	C	55418427	T	C	55418427	2	2	4	1	0	0	0	0	0	0	0	1	11122	1538	54	4		4	OR4S2	11	55418427	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	12107	55418427	79588089	195	1106											
OR5L2	26338	genome.wustl.edu	37	chr11	55595355	55595355	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcacctcctacctgctaAttctcaccactatcctgaag	9	12	3	17	0	2	1	2	1	1	0	6	1	5	1	6	0	2	1	6	0	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55595355A>C	ENST00000378397.1	+	1	661	c.661A>C	c.(661-663)Att>Ctt	p.I221L		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTACCTGCTAATTCTCACCAC	0.502										HNSCC(27;0.073)																																							0													202	167	179					11																	55595355		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.661A>C	11.37:g.55595355A>C	ENSP00000367650:p.Ile221Leu		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I221L	ENST00000378397.1	37	c.661	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	15.78	2.933570	0.52866	.	.	ENSG00000205030	ENST00000378397	T	0.00392	7.58	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.01320	0.0043	H	0.94734	3.575	0.33047	D	0.532274	P	0.50272	0.933	P	0.59288	0.855	T	0.01998	-1.1232	10	0.87932	D	0	-37.4186	14.3209	0.66487	1.0:0.0:0.0:0.0	.	221	Q8NGL0	OR5L2_HUMAN	L	221	ENSP00000367650:I221L	ENSP00000367650:I221L	I	+	1	0	OR5L2	55351931	1.000000	0.71417	0.549000	0.28204	0.040000	0.13550	6.775000	0.75018	2.115000	0.64714	0.514000	0.50259	ATT	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205030		0.502	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	71	0	A	NM_001004739		55595355	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	20.00	43	11	SNP	0.882	C	C	55595355	A	C	55595355	3	2	4	1	0	0	0	0	1	0	0	0	11210	101	4	4	663	4	OR5L2	11	55595355	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	176928	55595355	79411161	196	1107											
OR5I1	10798	genome.wustl.edu	37	chr11	55703776	55703776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattatagcatacaatgtcAgaaacatgaggaacaggaca	19	7	9	6	0	1	2	1	1	0	1	1	5	1	4	0	2	4	1	0	2	7	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55703776A>G	ENST00000301532.3	-	1	100	c.101T>C	c.(100-102)cTg>cCg	p.L34P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	34					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATACAATGTCAGAAACATGAG	0.393																																																	0													66	64	64					11																	55703776		2200	4295	6495	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.101T>C	11.37:g.55703776A>G	ENSP00000301532:p.Leu34Pro		Q6IEU4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L34P	ENST00000301532.3	37	c.101	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	A	13.04	2.119395	0.37436	.	.	ENSG00000167825	ENST00000301532	T	0.01981	4.52	5.05	3.78	0.43462	.	0.000000	0.37623	N	0.002006	T	0.15089	0.0364	M	0.92784	3.345	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.00159	-1.1974	10	0.87932	D	0	.	8.9655	0.35874	0.9012:0.0:0.0988:0.0	.	34	Q13606	OR5I1_HUMAN	P	34	ENSP00000301532:L34P	ENSP00000301532:L34P	L	-	2	0	OR5I1	55460352	0.000000	0.05858	0.516000	0.27786	0.061000	0.15899	1.335000	0.33839	0.743000	0.32719	0.519000	0.50382	CTG	OR5I1	-	prints_GPCR_Rhodpsn	ENSG00000167825		0.393	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	-	0	50	0	A	NM_006637		55703776	-1	tier1	-	no_errors	ENST00000301532	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.980	G	G	55703776	A	G	55703776	3	3	4	1	0	0	0	0	1	0	0	0	11203	188	7	4	846	4	OR5I1	11	55703776	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	108421	55703776	79302740	197	1108											
OR8J3	81168	genome.wustl.edu	37	chr11	55905031	55905031	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagtacatggggttttgaAgtcgagagtcaacactggtg	13	10	13	5	1	1	2	1	1	0	1	2	3	1	2	0	3	2	2	0	3	5	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55905031A>C	ENST00000301529.1	-	1	163	c.164T>G	c.(163-165)cTt>cGt	p.L55R		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GGGGTTTTGAAGTCGAGAGTC	0.468																																																	0													148	143	145					11																	55905031		2201	4296	6497	SO:0001583	missense	0				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.164T>G	11.37:g.55905031A>C	ENSP00000301529:p.Leu55Arg		Q6IFB6|Q96RC2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L55R	ENST00000301529.1	37	c.164	CCDS31520.1	11	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214321	0.39102	.	.	ENSG00000167822	ENST00000301529	T	0.14766	2.48	3.26	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000047	T	0.50377	0.1612	H	0.98802	4.335	0.33258	D	0.559339	D	0.89917	1.0	D	0.91635	0.999	T	0.66594	-0.5884	10	0.87932	D	0	.	8.1806	0.31309	0.897:0.0:0.103:0.0	.	55	Q8NGG0	OR8J3_HUMAN	R	55	ENSP00000301529:L55R	ENSP00000301529:L55R	L	-	2	0	OR8J3	55661607	1.000000	0.71417	0.014000	0.15608	0.289000	0.27227	7.657000	0.83745	0.280000	0.22209	0.240000	0.17902	CTT	OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167822		0.468	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	-	0	96	0	A	NM_001004064		55905031	-1	tier1	-	no_errors	ENST00000301529	ensembl	human	known	74_37	missense	26.15	48	17	SNP	0.930	C	C	55905031	A	C	55905031	3	2	4	1	0	0	0	0	1	0	0	0	11281	72	3	4	785	4	OR8J3	11	55905031	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	201255	55905031	79101485	198	1109											
OR5T2	219464	genome.wustl.edu	37	chr11	55999981	55999981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtgtgagtgtcagaataAgaaatagcaaggagaggagg	15	9	15	2	0	1	4	1	1	0	3	1	6	1	5	0	3	1	1	0	3	5	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:55999981A>G	ENST00000313264.4	-	1	756	c.681T>C	c.(679-681)tcT>tcC	p.S227S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423																																																	0													140	130	133					11																	55999981		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.681T>C	11.37:g.55999981A>G			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S227	ENST00000313264.4	37	c.681	CCDS31523.1	11																																																																																			OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181718		0.423	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0	96	0	A	NM_001004746		55999981	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	39.44	43	28	SNP	0.001	G	G	55999981	A	G	55999981	2	3	4	1	0	0	0	0	0	0	0	1	11221	59	3	4		4	OR5T2	11	55999981	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	94950	55999981	79006535	199	1110											
OR5T3	390154	genome.wustl.edu	37	chr11	56020014	56020014	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactccaaaaatgttggtCaatttcctggcaaaaaataa	16	11	6	8	0	2	0	2	0	0	0	4	0	4	0	2	2	0	2	2	2	7	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:56020014C>A	ENST00000303059.3	+	1	339	c.339C>A	c.(337-339)gtC>gtA	p.V113V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAATGTTGGTCAATTTCCTGG	0.363																																																	0													131	131	131					11																	56020014		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.339C>A	11.37:g.56020014C>A			Q6IFC7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V113	ENST00000303059.3	37	c.339	CCDS31524.1	11																																																																																			OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172489		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	-	0	106	0	C	NM_001004747		56020014	1	tier1	-	no_errors	ENST00000303059	ensembl	human	known	74_37	silent	24.19	47	15	SNP	0.000	A	A	56020014	C	A	56020014	2	1	4	1	0	0	0	0	0	0	0	1	11222	813	29	3		3	OR5T3	11	56020014	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	20033	56020014	78986502	200	1111											
RTN3	10313	genome.wustl.edu	37	chr11	63487976	63487976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagataaaggaatagtaGatagtgaaagaaatgctttt	18	10	10	3	0	0	4	0	1	0	3	0	6	0	5	1	1	1	2	1	1	8	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:63487976G>T	ENST00000377819.5	+	3	2156	c.2002G>T	c.(2002-2004)Gat>Tat	p.D668Y	RTN3_ENST00000339997.4_Missense_Mutation_p.D649Y|RTN3_ENST00000540798.1_Missense_Mutation_p.D556Y|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	668					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGGAATAGTAGATAGTGAAAG	0.373																																																	0													46	48	47					11																	63487976		2201	4297	6498	SO:0001583	missense	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2002G>T	11.37:g.63487976G>T	ENSP00000367050:p.Asp668Tyr		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D668Y	ENST00000377819.5	37	c.2002	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	3.840	-0.034049	0.07543	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.26660	1.72;1.72;1.73	5.59	1.55	0.23275	.	2.897090	0.01208	N	0.007765	T	0.17109	0.0411	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24483	0.104;0.063;0.104	B;B;B	0.20955	0.032;0.014;0.032	T	0.14952	-1.0454	10	0.34782	T	0.22	0.0161	3.4237	0.07402	0.1266:0.1394:0.5901:0.1438	.	556;668;649	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Y	668;649;556	ENSP00000367050:D668Y;ENSP00000344106:D649Y;ENSP00000442733:D556Y	ENSP00000344106:D649Y	D	+	1	0	RTN3	63244552	0.001000	0.12720	0.000000	0.03702	0.045000	0.14185	0.735000	0.26115	0.101000	0.17610	0.655000	0.94253	GAT	RTN3	-	NULL	ENSG00000133318		0.373	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	-	0	43	0	G	NM_006054		63487976	1	tier1	-	no_errors	ENST00000377819	ensembl	human	known	74_37	missense	9.09	29	3	SNP	0.000	T	T	63487976	G	T	63487976	3	4	4	1	0	0	0	0	1	0	0	0	13772	942	33	3	2012	3	RTN3	11	63487976	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	7467962	63487976	71518540	201	1112											
FLRT1	28992	genome.wustl.edu	37	chr11	63885044	63885044	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatggccacgggtgatggCgccaagaccctggccatcca	8	5	12	16	2	0	2	0	1	0	1	1	2	1	2	6	4	0	0	6	4	1	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:63885044C>T	ENST00000255681.6	-	3	584				FLRT1_ENST00000246841.3_Silent_p.G435G|RP11-21A7A.3_ENST00000543817.1_RNA	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CGGGTGATGGCGCCAAGACCC	0.652																																																	0													32	31	31					11																	63885044		2201	4296	6497	SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33666G>A	11.37:g.63885044C>T			Q9UH96	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.G435	ENST00000255681.6	37	c.1305	CCDS8056.1	11																																																																																			FLRT1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000126500		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1	-	0	25	0	C	NM_014067		63885044	1	tier1	-	no_errors	ENST00000246841	ensembl	human	known	74_37	silent	85.71	3	18	SNP	0.000	T	T	63885044	C	T	63885044	1	4	4	0	1	0	0	0	0	0	0	0	5960	755	27	1		1	FLRT1	11	63885044	Intron	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	397068	63885044	71121472	202	1113											
NRXN2	9379	genome.wustl.edu	37	chr11	64415728	64415728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccataggaagtcatggtGcagtcgcaggtgaagccatc	10	8	12	11	1	1	1	1	1	0	0	4	2	2	2	3	3	2	2	3	3	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:64415728G>A	ENST00000377551.1	-	16	3577	c.3366C>T	c.(3364-3366)tgC>tgT	p.C1122C	NRXN2_ENST00000265459.6_Silent_p.C1122C|NRXN2_ENST00000409571.1_Silent_p.C1115C|NRXN2_ENST00000377559.3_Silent_p.C1082C|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1122	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AAGTCATGGTGCAGTCGCAGG	0.622																																																	0													106	93	97					11																	64415728		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3366C>T	11.37:g.64415728G>A			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.C1122	ENST00000377551.1	37	c.3366	CCDS8077.1	11																																																																																			NRXN2	-	superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000110076		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0	54	0	G	NM_015080		64415728	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	silent	25.00	27	9	SNP	1.000	A	A	64415728	G	A	64415728	2	1	4	1	0	0	0	0	0	0	0	1	10705	1311	46	3		3	NRXN2	11	64415728	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	530684	64415728	70590788	203	1114											
NRXN2	9379	genome.wustl.edu	37	chr11	64434791	64434791	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccttgcggctggatgcccGcagcttgatgcccccagatc	6	8	12	15	2	0	2	0	1	0	1	1	4	0	3	4	2	4	3	4	2	0	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:64434791G>T	ENST00000377551.1	-	8	1940	c.1729C>A	c.(1729-1731)Cgg>Agg	p.R577R	NRXN2_ENST00000265459.6_Silent_p.R577R|NRXN2_ENST00000409571.1_Silent_p.R570R|NRXN2_ENST00000377559.3_Silent_p.R546R			Q9P2S2	NRX2A_HUMAN	neurexin 2	577	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTGGATGCCCGCAGCTTGATG	0.602																																																	0													94	85	88					11																	64434791		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1729C>A	11.37:g.64434791G>T			A7E2C1|Q9Y2D6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R577	ENST00000377551.1	37	c.1729	CCDS8077.1	11																																																																																			NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.602	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3		0	85	0	G	NM_015080		64434791	-1			no_errors	ENST00000265459	ensembl	human	known	74_37	silent	5.26	35	2	SNP	1.000	T	T	64434791	G	T	64434791	2	4	4	1	0	0	0	0	0	0	0	1	10705	1086	38	2		2	NRXN2	11	64434791	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	19063	64434791	70571725	204	1115											
PCNXL3	399909	genome.wustl.edu	37	chr11	65389815	65389815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgctatgagcggcttGccctgctggctctgctggac	3	11	14	13	2	1	1	0	1	1	0	1	2	1	2	1	3	5	5	1	3	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:65389815G>A	ENST00000355703.3	+	11	2874	c.2335G>A	c.(2335-2337)Gcc>Acc	p.A779T		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	779						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGAGCGGCTTGCCCTGCTGGC	0.627																																																	0													19	23	21					11																	65389815		2062	4185	6247	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2335G>A	11.37:g.65389815G>A	ENSP00000347931:p.Ala779Thr		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.A779T	ENST00000355703.3	37	c.2335	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778297	0.31502	.	.	ENSG00000197136	ENST00000355703	T	0.51071	0.72	4.36	3.37	0.38596	.	.	.	.	.	T	0.25754	0.0627	N	0.11284	0.12	0.36660	D	0.877894	D	0.58268	0.982	P	0.48627	0.584	T	0.38972	-0.9636	9	0.02654	T	1	.	5.3664	0.16115	0.1113:0.2097:0.679:0.0	.	779	Q9H6A9	PCX3_HUMAN	T	779	ENSP00000347931:A779T	ENSP00000347931:A779T	A	+	1	0	PCNXL3	65146391	1.000000	0.71417	0.977000	0.42913	0.894000	0.52154	3.398000	0.52579	1.986000	0.57962	0.561000	0.74099	GCC	PCNXL3	-	NULL	ENSG00000197136		0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	101	0	G	NM_032223		65389815	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	32.35	45	22	SNP	0.963	A	A	65389815	G	A	65389815	3	1	4	1	0	0	0	0	1	0	0	0	11632	1319	46	3	2377	3	PCNXL3	11	65389815	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	955024	65389815	69616701	205	1116											
CCDC87	55231	genome.wustl.edu	37	chr11	66360163	66360163	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcttccgcagcttctggttGtttttgtggctcagactaag	5	15	11	10	2	2	1	1	0	1	1	3	1	3	1	1	2	1	6	1	2	1	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:66360163G>A	ENST00000333861.3	-	1	391	c.324C>T	c.(322-324)aaC>aaT	p.N108N	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	108					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCTTCTGGTTGTTTTTGTGGC	0.612											OREG0021111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													46	50	49					11																	66360163		2200	4295	6495	SO:0001819	synonymous_variant	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.324C>T	11.37:g.66360163G>A		1091	Q8NE76	Silent	SNP	pfam_MAP65_Ase1_PRC1	p.N108	ENST00000333861.3	37	c.324	CCDS8145.1	11																																																																																			CCDC87	-	NULL	ENSG00000182791		0.612	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1		0	56	0	G	NM_018219		66360163	-1			no_errors	ENST00000333861	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.853	A	A	66360163	G	A	66360163	2	1	4	1	0	0	0	0	0	0	0	1	2869	1368	48	3		3	CCDC87	11	66360163	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	970348	66360163	68646353	206	1117											
NUMA1	4926	genome.wustl.edu	37	chr11	71725098	71725098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggaggcccgctcagcctCgaggctgcgttccaggctgt	4	7	15	15	4	1	0	1	0	0	0	3	2	2	1	4	4	2	4	4	4	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:71725098C>T	ENST00000393695.3	-	15	3782	c.3451G>A	c.(3451-3453)Gag>Aag	p.E1151K	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1151K|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CGCTCAGCCTCGAGGCTGCGT	0.647			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													50	51	51					11																	71725098		2200	4293	6493	SO:0001583	missense	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3451G>A	11.37:g.71725098C>T	ENSP00000377298:p.Glu1151Lys			Missense_Mutation	SNP	superfamily_Prefoldin	p.E1151K	ENST00000393695.3	37	c.3451	CCDS31633.1	11	.	.	.	.	.	.	.	.	.	.	C	2.117	-0.402468	0.04865	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.14266	2.52;2.53	4.55	1.63	0.23807	.	0.258630	0.27613	N	0.018594	T	0.08403	0.0209	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.21452	0.025;0.003;0.056;0.007	B;B;B;B	0.15052	0.006;0.004;0.012;0.006	T	0.35450	-0.9788	9	.	.	.	.	9.3922	0.38381	0.0:0.756:0.0:0.244	.	1157;635;1151;1151	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	K	1151;1151;714;120	ENSP00000351851:E1151K;ENSP00000377298:E1151K	.	E	-	1	0	NUMA1	71402746	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.150000	0.16263	0.172000	0.19760	-0.812000	0.03155	GAG	NUMA1	-	NULL	ENSG00000137497		0.647	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1		0	67	0	C			71725098	-1			no_errors	ENST00000393695	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.041	T	T	71725098	C	T	71725098	3	4	4	1	0	0	0	0	1	0	0	0	10789	893	31	1	2948	1	NUMA1	11	71725098	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	5364935	71725098	63281418	207	1118											
LRTOMT	55004	genome.wustl.edu	37	chr11	71817232	71817232	+	5'Flank	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcagccgctgcgagtacTtgagccacatggggcctgtc	7	7	15	12	2	0	1	0	1	0	0	1	3	0	2	3	3	5	3	3	3	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:71817232T>G	ENST00000278671.5	-	0	0				LAMTOR1_ENST00000535107.1_5'Flank|LRTOMT_ENST00000435085.1_Missense_Mutation_p.L112V|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000545249.1_5'Flank|LRTOMT_ENST00000307198.7_Missense_Mutation_p.L112V|snoU13_ENST00000459046.1_RNA|LAMTOR1_ENST00000538404.1_5'Flank|LRTOMT_ENST00000419228.1_Missense_Mutation_p.L72V	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1						cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						CTGCGAGTACTTGAGCCACAT	0.587																																																	0													30	34	33					11																	71817232		692	1591	2283	SO:0001631	upstream_gene_variant	0			AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"p27kip1 releasing factor from RhoA", "protein associated with DRMs and endosomes"	613510	"chromosome 11 open reading frame 59"	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869		11.37:g.71817232T>G	Exception_encountered		Q8WZ09|Q9NWT0	Missense_Mutation	SNP	pfam_O-MeTrfase_3	p.L112V	ENST00000278671.5	37	c.334	CCDS8209.1	11	.	.	.	.	.	.	.	.	.	.	T	9.033	0.987786	0.18966	.	.	ENSG00000184154	ENST00000419228;ENST00000435085;ENST00000307198	T;T;T	0.70986	-0.53;-0.53;-0.53	4.59	3.67	0.42095	.	.	.	.	.	T	0.69993	0.3173	L	0.43757	1.38	0.80722	D	1	P;D	0.56521	0.948;0.976	P;P	0.54499	0.754;0.741	T	0.65290	-0.6204	9	0.20519	T	0.43	-3.7682	11.942	0.52907	0.0:0.9118:0.0:0.0881	.	112;72	Q8WZ04;Q8WZ04-2	TOMT_HUMAN;.	V	72;112;112	ENSP00000392233:L72V;ENSP00000409789:L112V;ENSP00000305742:L112V	ENSP00000305742:L72V	L	+	1	2	LRTOMT	71494880	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.198000	0.42705	1.253000	0.44018	-0.464000	0.05259	TTG	LRTOMT	-	NULL	ENSG00000184154		0.587	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTOMT	HGNC	protein_coding	OTTHUMT00000396733.1	-	0	62	0	T	NM_017907		71817232	1	tier1	-	no_errors	ENST00000307198	ensembl	human	known	74_37	missense	37.93	18	11	SNP	1.000	G	G	71817232	T	G	71817232	1	3	4	0	1	0	0	0	0	0	0	0	9081	1606	56	4		4	LRTOMT	11	71817232	5'Flank	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	92134	71817232	63189284	208	1119											
PDE2A	5138	genome.wustl.edu	37	chr11	72288494	72288494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatccagatcaggcacctcGtactcctcatccaggaagtc	10	8	7	16	1	2	1	2	0	0	1	7	2	5	2	5	2	1	2	5	2	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:72288494G>A	ENST00000334456.5	-	31	3005	c.2760C>T	c.(2758-2760)taC>taT	p.Y920Y	PDE2A_ENST00000418754.2_Silent_p.Y805Y|PDE2A_ENST00000376450.3_Silent_p.Y664Y|PDE2A_ENST00000444035.2_Silent_p.Y911Y|PDE2A_ENST00000540345.1_Silent_p.Y911Y|PDE2A_ENST00000544570.1_Silent_p.Y913Y	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	920					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CAGGCACCTCGTACTCCTCAT	0.612																																																	0													123	98	107					11																	72288494		2200	4293	6493	SO:0001819	synonymous_variant	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2760C>T	11.37:g.72288494G>A			B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.Y920	ENST00000334456.5	37	c.2760	CCDS8216.1	11																																																																																			PDE2A	-	NULL	ENSG00000186642		0.612	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0	79	0	G	NM_002599		72288494	-1	tier1	-	no_errors	ENST00000334456	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.086	A	A	72288494	G	A	72288494	2	1	4	1	0	0	0	0	0	0	0	1	11675	1140	40	1		1	PDE2A	11	72288494	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	471262	72288494	62718022	209	1120											
CAPN5	726	genome.wustl.edu	37	chr11	76834840	76834840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccacctccgggaccgaaAtagccggcagcccagcaacc	10	3	9	19	3	0	0	0	0	0	0	2	2	2	1	8	2	4	2	8	2	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:76834840A>G	ENST00000278559.3	+	13	2036	c.1847A>G	c.(1846-1848)aAt>aGt	p.N616S	CAPN5_ENST00000456580.2_Missense_Mutation_p.N656S|CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000529629.1_Missense_Mutation_p.N616S	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	616	C2.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGGGACCGAAATAGCCGGCAG	0.617																																																	0													97	87	90					11																	76834840		2200	4292	6492	SO:0001583	missense	0				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1847A>G	11.37:g.76834840A>G	ENSP00000278559:p.Asn616Ser		O00263	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.N616S	ENST00000278559.3	37	c.1847	CCDS8248.1	11	.	.	.	.	.	.	.	.	.	.	A	4.667	0.124096	0.08931	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	T;T;T	0.70516	-0.49;-0.49;-0.49	5.87	-3.49	0.04724	C2 calcium-dependent membrane targeting (1);	0.619850	0.19260	N	0.118691	T	0.42017	0.1184	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.14699	-1.0463	10	0.34782	T	0.22	.	12.0984	0.53769	0.5279:0.0:0.4721:0.0	.	654;656;656;616	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	S	616;656;616;656	ENSP00000278559:N616S;ENSP00000432332:N616S;ENSP00000409996:N656S	ENSP00000278559:N616S	N	+	2	0	CAPN5	76512488	0.030000	0.19436	0.000000	0.03702	0.056000	0.15407	0.431000	0.21444	-1.095000	0.03050	-0.912000	0.02778	AAT	CAPN5	-	smart_C2_dom	ENSG00000149260		0.617	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	HGNC	protein_coding	OTTHUMT00000382564.2	-	0	34	0	A	NM_004055		76834840	1	tier1	-	no_errors	ENST00000278559	ensembl	human	known	74_37	missense	43.75	9	7	SNP	0.163	G	G	76834840	A	G	76834840	3	3	4	1	0	0	0	0	1	0	0	0	2636	101	4	4	1893	4	CAPN5	11	76834840	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	4546346	76834840	58171676	210	1121											
FAT3	120114	genome.wustl.edu	37	chr11	92531706	92531706	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccaacctggaccatgaaAccattgcccatttccatttt	10	13	5	13	0	0	1	0	1	0	0	1	2	1	2	6	1	4	0	6	1	2	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:92531706A>T	ENST00000298047.6	+	9	5544	c.5527A>T	c.(5527-5529)Acc>Tcc	p.T1843S	FAT3_ENST00000525166.1_Missense_Mutation_p.T1693S|FAT3_ENST00000409404.2_Missense_Mutation_p.T1843S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1843	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGACCATGAAACCATTGCCCA	0.463										TCGA Ovarian(4;0.039)																																							0													72	68	69					11																	92531706		1982	4169	6151	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5527A>T	11.37:g.92531706A>T	ENSP00000298047:p.Thr1843Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T1843S	ENST00000298047.6	37	c.5527		11	.	.	.	.	.	.	.	.	.	.	A	4.626	0.116384	0.08881	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.03242	4.0;4.0;4.0	5.82	2.28	0.28536	.	.	.	.	.	T	0.02970	0.0088	L	0.31845	0.965	0.80722	D	1	P	0.36010	0.532	B	0.34779	0.189	T	0.55964	-0.8057	9	0.13108	T	0.6	.	8.9663	0.35879	0.7863:0.0:0.2137:0.0	.	1843	Q8TDW7-3	.	S	1843;1843;1693	ENSP00000298047:T1843S;ENSP00000387040:T1843S;ENSP00000432586:T1693S	ENSP00000298047:T1843S	T	+	1	0	FAT3	92171354	1.000000	0.71417	0.453000	0.27007	0.935000	0.57460	4.466000	0.60148	0.148000	0.19059	0.482000	0.46254	ACC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.463	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	47	0	A	NM_001008781		92531706	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	28.00	36	14	SNP	0.996	T	T	92531706	A	T	92531706	3	4	4	1	0	0	0	0	1	0	0	0	5713	43	2	5	5561	5	FAT3	11	92531706	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	15696866	92531706	42474810	211	1122											
FAT3	120114	genome.wustl.edu	37	chr11	92600351	92600351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtgccagcacgggggcAgctgcactggcctgccatcg	5	5	15	16	3	0	0	0	0	0	0	1	0	0	0	4	3	5	4	4	3	0	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:92600351A>G	ENST00000298047.6	+	21	12120	c.12103A>G	c.(12103-12105)Agc>Ggc	p.S4035G	FAT3_ENST00000525166.1_Missense_Mutation_p.S3885G|FAT3_ENST00000533797.1_Missense_Mutation_p.S370G|FAT3_ENST00000409404.2_Missense_Mutation_p.S4035G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4035	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCACGGGGGCAGCTGCACTGG	0.687										TCGA Ovarian(4;0.039)																																							0													6	7	7					11																	92600351		1961	4069	6030	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12103A>G	11.37:g.92600351A>G	ENSP00000298047:p.Ser4035Gly		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4035G	ENST00000298047.6	37	c.12103		11	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791304	0.50102	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27	5.94	5.94	0.96194	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.82967	0.5152	L	0.48218	1.51	0.80722	D	1	B;B	0.31625	0.332;0.003	B;B	0.26094	0.066;0.011	T	0.80360	-0.1415	9	0.30078	T	0.28	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	4035;4035	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	G	4035;4035;3885;370	ENSP00000298047:S4035G;ENSP00000387040:S4035G;ENSP00000432586:S3885G;ENSP00000436399:S370G	ENSP00000298047:S4035G	S	+	1	0	FAT3	92239999	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.033000	0.76504	2.279000	0.76181	0.459000	0.35465	AGC	FAT3	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000165323		0.687	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	27	0	A	NM_001008781		92600351	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	G	G	92600351	A	G	92600351	3	3	4	1	0	0	0	0	1	0	0	0	5713	188	7	4	12185	4	FAT3	11	92600351	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	68645	92600351	42406165	212	1123											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103092764	103092764	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctttaattttagtttccTtgcaaaaagaggtgtaagag	13	15	9	4	0	0	2	0	0	0	2	1	2	1	2	1	1	2	4	1	1	5	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:103092764T>G	ENST00000375735.2	+	58	9257	c.9113T>G	c.(9112-9114)cTt>cGt	p.L3038R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3038R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3038	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTAGTTTCCTTGCAAAAAGA	0.284																																																	0													71	71	71					11																	103092764		1800	4056	5856	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9113T>G	11.37:g.103092764T>G	ENSP00000364887:p.Leu3038Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3038R	ENST00000375735.2	37	c.9113	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491307	0.84962	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.76578	-1.03;-1.03	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.64402	D	0.000001	D	0.90428	0.7003	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92354	0.5892	10	0.87932	D	0	.	15.5573	0.76208	0.0:0.0:0.0:1.0	.	3038;3038	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	3038	ENSP00000364887:L3038R;ENSP00000381167:L3038R	ENSP00000364887:L3038R	L	+	2	0	DYNC2H1	102597974	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.622000	0.83099	2.371000	0.80710	0.533000	0.62120	CTT	DYNC2H1	-	NULL	ENSG00000187240		0.284	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	116	0	T	XM_370652		103092764	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	43.18	49	38	SNP	1.000	G	G	103092764	T	G	103092764	3	3	4	1	0	0	0	0	1	0	0	0	4860	1609	56	4	9343	4	DYNC2H1	11	103092764	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	10492413	103092764	31913752	213	1124											
KDELC2	143888	genome.wustl.edu	37	chr11	108352842	108352842	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcttgaatccagagaGccacaccatgaaatgatagg	15	8	8	10	0	1	4	0	3	1	1	3	5	2	4	3	1	1	0	3	1	3	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:108352842G>T	ENST00000323468.5	-	4	857	c.792C>A	c.(790-792)ggC>ggA	p.G264G	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000434945.2_Silent_p.G208G|KDELC2_ENST00000375648.1_Silent_p.G208G	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	264						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		AATCCAGAGAGCCACACCATG	0.453																																																	0													152	156	155					11																	108352842		1942	4135	6077	SO:0001819	synonymous_variant	0			AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.792C>A	11.37:g.108352842G>T			Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Silent	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.G264	ENST00000323468.5	37	c.792	CCDS41711.1	11																																																																																			KDELC2	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000178202		0.453	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC2	HGNC	protein_coding	OTTHUMT00000390273.1	-	0	62	0	G	NM_153705		108352842	-1	tier1	-	no_errors	ENST00000323468	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	108352842	G	T	108352842	2	4	4	1	0	0	0	0	0	0	0	1	8145	958	34	3		3	KDELC2	11	108352842	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	5260078	108352842	26653674	214	1125											
LAYN	143903	genome.wustl.edu	37	chr11	111414699	111414699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgttataaagtcatttActtccatgatacttctcgaa	11	16	5	9	1	2	1	1	1	1	0	4	2	3	1	2	0	2	1	2	0	6	8			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:111414699A>G	ENST00000375615.3	+	3	346	c.161A>G	c.(160-162)tAc>tGc	p.Y54C	LAYN_ENST00000375614.2_Missense_Mutation_p.Y46C|LAYN_ENST00000533265.1_Missense_Mutation_p.Y46C|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000436913.2_5'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.Y54C	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	54	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	AAAGTCATTTACTTCCATGAT	0.473																																					Ovarian(17;551 586 12136 22082 22900)												0													68	70	69					11																	111414699		2201	4297	6498	SO:0001583	missense	0				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.161A>G	11.37:g.111414699A>G	ENSP00000364765:p.Tyr54Cys		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Y54C	ENST00000375615.3	37	c.161	CCDS58178.1	11	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004114	0.74932	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000533265;ENST00000541011	T;T;T;T	0.29655	3.6;1.56;1.56;3.81	4.5	4.5	0.54988	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.997	T	0.59478	-0.7447	10	0.51188	T	0.08	-14.7368	13.6499	0.62304	1.0:0.0:0.0:0.0	.	46;54;54;46	E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;LAYN_HUMAN;.;.	C	46;54;54;46;46	ENSP00000364764:Y46C;ENSP00000364765:Y54C;ENSP00000434328:Y54C;ENSP00000434972:Y46C	ENSP00000364764:Y46C	Y	+	2	0	LAYN	110919909	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.761000	0.91691	1.882000	0.54519	0.379000	0.24179	TAC	LAYN	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000204381		0.473	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAYN	HGNC	protein_coding	OTTHUMT00000391187.1	-	0	46	0	A	NM_178834		111414699	1	tier1	-	no_errors	ENST00000375615	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	G	G	111414699	A	G	111414699	3	3	4	1	0	0	0	0	1	0	0	0	8677	391	14	4	143	4	LAYN	11	111414699	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	3061857	111414699	23591817	215	1126											
PUS3	83480	genome.wustl.edu	37	chr11	125763901	125763901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaggggcttatatgtgcGcatcttcactccttctacaa	9	13	8	11	1	3	1	1	1	2	0	4	1	4	1	1	2	2	2	1	2	4	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr11:125763901G>A	ENST00000530811.1	-	3	1270	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.R409C			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	409					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTATATGTGCGCATCTTCACT	0.473																																																	0													201	190	194					11																	125763901		2201	4299	6500	SO:0001583	missense	0			BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.1225C>T	11.37:g.125763901G>A	ENSP00000432386:p.Arg409Cys		B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA	p.R409C	ENST00000530811.1	37	c.1225	CCDS8466.1	11	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748221	0.69533	.	.	ENSG00000110060	ENST00000227474;ENST00000530811	T;T	0.35973	1.28;1.28	5.41	3.54	0.40534	.	0.107907	0.64402	D	0.000013	T	0.57242	0.2040	M	0.75777	2.31	0.53688	D	0.999979	D	0.89917	1.0	D	0.78314	0.991	T	0.59037	-0.7529	10	0.72032	D	0.01	-1.381	11.1437	0.48417	0.1414:0.0:0.8586:0.0	.	409	Q9BZE2	PUS3_HUMAN	C	409	ENSP00000227474:R409C;ENSP00000432386:R409C	ENSP00000227474:R409C	R	-	1	0	PUS3	125269111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.886000	0.56190	0.657000	0.30906	0.591000	0.81541	CGC	PUS3	-	NULL	ENSG00000110060		0.473	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS3	HGNC	protein_coding	OTTHUMT00000386783.1		0	92	0	G	NM_031307		125763901	-1			no_errors	ENST00000227474	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.988	A	A	125763901	G	A	125763901	3	1	4	1	0	0	0	0	1	0	0	0	12877	1087	38	1	224	1	PUS3	11	125763901	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	14349202	125763901	9242615	216	1127											
PRB3	5544	genome.wustl.edu	37	chr12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:11420581G>A	ENST00000279573.7	-	3	737	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.P201L|PRB3_ENST00000538488.1_Missense_Mutation_p.P180L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632																																																	0													83	114	104					12																	11420581		1628	3653	5281	SO:0001583	missense	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.602C>T	12.37:g.11420581G>A	ENSP00000279573:p.Pro201Leu		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.P201L	ENST00000279573.7	37	c.602		12	.	.	.	.	.	.	.	.	.	.	.	7.574	0.667426	0.14710	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.06608	3.34;3.28	0.894	0.894	0.19242	.	0.000000	0.26109	U	0.026296	T	0.13072	0.0317	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.63877	0.919	T	0.04320	-1.0960	9	0.49607	T	0.09	.	4.1826	0.10383	0.0:0.0:0.6006:0.3994	.	201	Q04118	PRB3_HUMAN	L	201;180	ENSP00000371264:P201L;ENSP00000442626:P180L	ENSP00000279573:P201L	P	-	2	0	PRB3	11311848	0.099000	0.21834	0.002000	0.10522	0.018000	0.09664	2.322000	0.43814	0.809000	0.34255	0.134000	0.15878	CCG	PRB3	-	NULL	ENSG00000197870		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	-	0	130	0	G	NM_006249		11420581	-1	tier1	-	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	5.26	162	9	SNP	0.023	A	A	11420581	G	A	11420581	3	1	4	1	0	0	0	0	1	0	0	0	12486	1116	39	1	335	1	PRB3	12	11420581	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		11420581	122431314	217	1128											
DDX11	1663	genome.wustl.edu	37	chr12	31242027	31242027	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcccagtttgtgcatgAggtgaagaagagcccctttg	8	10	14	9	0	0	4	0	2	0	2	0	4	0	4	3	2	2	3	3	2	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:31242027A>T	ENST00000407793.2	+	7	985	c.734A>T	c.(733-735)gAg>gTg	p.E245V	DDX11_ENST00000542838.1_Missense_Mutation_p.E245V|DDX11_ENST00000228264.6_Missense_Mutation_p.E219V|DDX11_ENST00000350437.4_Missense_Mutation_p.E245V|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.E245V	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	245	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTTGTGCATGAGGTGAAGAAG	0.527										Multiple Myeloma(12;0.14)																																							0													97	98	98					12																	31242027		2203	4298	6501	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.734A>T	12.37:g.31242027A>T	ENSP00000384703:p.Glu245Val		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E245V	ENST00000407793.2	37	c.734	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784617	0.31593	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-0.75;-1.22;-1.22	3.64	2.47	0.30058	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.052407	0.85682	D	0.000000	D	0.89441	0.6716	H	0.95470	3.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.87739	0.2584	10	0.87932	D	0	.	7.0978	0.25319	0.8861:0.0:0.1139:0.0	.	245;245;245;245	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	V	245;245;219;216;219;245;245	ENSP00000443426:E245V;ENSP00000384703:E245V;ENSP00000228264:E219V;ENSP00000407646:E216V;ENSP00000406457:E219V;ENSP00000440402:E245V;ENSP00000309965:E245V	ENSP00000228264:E219V	E	+	2	0	DDX11	31133294	1.000000	0.71417	0.043000	0.18650	0.048000	0.14542	8.156000	0.89645	0.464000	0.27142	-0.573000	0.04149	GAG	DDX11	-	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.527	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	-	0	203	0	A	NM_030653		31242027	1	tier1	-	no_errors	ENST00000407793	ensembl	human	known	74_37	missense	23.90	121	38	SNP	1.000	T	T	31242027	A	T	31242027	3	4	4	1	0	0	0	0	1	0	0	0	4352	304	11	5	756	5	DDX11	12	31242027	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	19821446	31242027	102609868	218	1129											
LRRK2	120892	genome.wustl.edu	37	chr12	40645048	40645048	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaagctgagactattttcTtaaatcaagatttagaggaa	15	14	7	5	0	3	3	2	1	1	3	3	5	3	4	0	1	1	1	0	1	7	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:40645048T>G	ENST00000298910.7	+	9	1031	c.973T>G	c.(973-975)Tta>Gta	p.L325V	LRRK2_ENST00000343742.2_Missense_Mutation_p.L325V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	325					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACTATTTTCTTAAATCAAGA	0.284											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													28	29	29					12																	40645048		2197	4298	6495	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.973T>G	12.37:g.40645048T>G	ENSP00000298910:p.Leu325Val	895	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.L325V	ENST00000298910.7	37	c.973	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	T	14.36	2.510749	0.44660	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.71698	2.2;-0.59	5.51	4.37	0.52481	Armadillo-type fold (1);	0.211078	0.31519	N	0.007518	T	0.59238	0.2179	L	0.54323	1.7	0.26406	N	0.976341	P	0.50156	0.932	B	0.36244	0.22	T	0.55068	-0.8198	10	0.37606	T	0.19	.	9.3868	0.38347	0.0:0.0828:0.0:0.9172	.	325	Q5S007	LRRK2_HUMAN	V	325	ENSP00000341930:L325V;ENSP00000298910:L325V	ENSP00000298910:L325V	L	+	1	2	LRRK2	38931315	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.128000	0.31369	0.930000	0.37217	-0.264000	0.10439	TTA	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.284	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	54	0	T	XM_058513		40645048	1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	G	G	40645048	T	G	40645048	3	3	4	1	0	0	0	0	1	0	0	0	9068	1606	56	4	1007	4	LRRK2	12	40645048	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	9403021	40645048	93206847	219	1130											
ADCY6	112	genome.wustl.edu	37	chr12	49176989	49176989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctccttgcccttgcCtgggccgcccctccggatga	3	8	10	20	2	0	1	0	1	0	0	2	2	2	2	9	2	3	1	9	2	0	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:49176989C>T	ENST00000307885.4	-	1	923	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	ADCY6_ENST00000550422.1_Missense_Mutation_p.G77S|ADCY6_ENST00000357869.3_Missense_Mutation_p.G77S	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	77					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTGCCCTTGCCTGGGCCGCCC	0.726																																																	0													24	28	27					12																	49176989		2186	4261	6447	SO:0001583	missense	0				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.229G>A	12.37:g.49176989C>T	ENSP00000311405:p.Gly77Ser		Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G77S	ENST00000307885.4	37	c.229	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772254	0.31411	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.78707	-1.18;-1.18;-1.2	5.13	4.24	0.50183	.	0.312597	0.28273	N	0.015960	T	0.67230	0.2871	L	0.50333	1.59	0.37964	D	0.933066	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.60378	-0.7275	10	0.09338	T	0.73	.	9.6029	0.39615	0.0:0.8322:0.0:0.1678	.	77;77	O43306-2;O43306	.;ADCY6_HUMAN	S	77	ENSP00000350536:G77S;ENSP00000446730:G77S;ENSP00000311405:G77S	ENSP00000311405:G77S	G	-	1	0	ADCY6	47463256	0.515000	0.26210	0.921000	0.36526	0.490000	0.33462	3.388000	0.52509	1.392000	0.46585	0.561000	0.74099	GGC	ADCY6	-	NULL	ENSG00000174233		0.726	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	-	0	35	0	C	NM_020983		49176989	-1	tier1	-	no_errors	ENST00000307885	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.678	T	T	49176989	C	T	49176989	3	4	4	1	0	0	0	0	1	0	0	0	298	681	24	3	3361	3	ADCY6	12	49176989	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	8531941	49176989	84674906	220	1131											
GALNT6	11226	genome.wustl.edu	37	chr12	51748202	51748202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggggtcactgggattGcagggggccatggctggctt	5	10	19	7	0	1	1	1	1	0	0	1	2	1	2	1	7	1	3	1	7	0	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:51748202G>A	ENST00000543196.2	-	11	2035	c.1830C>T	c.(1828-1830)tgC>tgT	p.C610C	GALNT6_ENST00000356317.3_Silent_p.C610C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	610	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACTGGGATTGCAGGGGGCCA	0.527																																																	0													76	73	74					12																	51748202		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"Glycosyltransferase family 2 domain containing"	4128	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 6"	605148	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1830C>T	12.37:g.51748202G>A			Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.C610	ENST00000543196.2	37	c.1830	CCDS8813.1	12																																																																																			GALNT6	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000139629		0.527	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT6	HGNC	protein_coding	OTTHUMT00000469735.1	-	0	75	0	G	NM_007210		51748202	-1	tier1	-	no_errors	ENST00000356317	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.995	A	A	51748202	G	A	51748202	2	1	4	1	0	0	0	0	0	0	0	1	6242	1311	46	3		3	GALNT6	12	51748202	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	2571213	51748202	82103693	221	1132											
ZC3H10	84872	genome.wustl.edu	37	chr12	56515093	56515093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgccatgctcaggaaGcgggtagaggagttaaagaa	15	6	15	5	1	1	3	1	0	0	3	1	6	1	5	1	3	3	3	1	3	6	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:56515093G>T	ENST00000257940.2	+	3	1023	c.747G>T	c.(745-747)aaG>aaT	p.K249N	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	249							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TGCTCAGGAAGCGGGTAGAGG	0.517																																																	0													73	73	73					12																	56515093		2203	4300	6503	SO:0001583	missense	0			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.747G>T	12.37:g.56515093G>T	ENSP00000257940:p.Lys249Asn			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K249N	ENST00000257940.2	37	c.747	CCDS8903.1	12	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693760	0.30052	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.13	3.27	0.37495	.	0.063153	0.64402	D	0.000010	T	0.36524	0.0970	N	0.19112	0.55	0.80722	D	1	D	0.60575	0.988	P	0.49140	0.601	T	0.19160	-1.0314	9	0.72032	D	0.01	-13.3228	6.9254	0.24412	0.3627:0.0:0.6373:0.0	.	249	Q96K80	ZC3HA_HUMAN	N	249	.	ENSP00000257940:K249N	K	+	3	2	ZC3H10	54801360	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.235000	0.43044	0.656000	0.30886	0.655000	0.94253	AAG	ZC3H10	-	NULL	ENSG00000135482		0.517	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	-	0	47	0	G	NM_032786		56515093	1	tier1	-	no_errors	ENST00000257940	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	56515093	G	T	56515093	3	4	4	1	0	0	0	0	1	0	0	0	17607	962	34	3	749	3	ZC3H10	12	56515093	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4766891	56515093	77336802	222	1133											
SMARCC2	6601	genome.wustl.edu	37	chr12	56557548	56557551	+	Splice_Site	DEL	GTCT	GTCT	-																															ggaggcaggggggtgcctggGtctgtggagaaaaggaagat																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	GTCT	GTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:56557548_56557551delGTCT	ENST00000267064.4	-	28	3655_3656	c.3569_3570delAGAC	c.(3568-3570)gag>g	p.E1190fs	SMARCC2_ENST00000550164.1_Splice_Site_p.E1221fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Splice_Site_p.E1128fs|SMARCC2_ENST00000347471.4_Splice_Site_p.E1106fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1190	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTGCCTGGGTCTGTGGAGAAAA	0.623																																																	0																																										SO:0001630	splice_region_variant	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3569-1AGAC>-	12.37:g.56557548_56557551delGTCT			F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.D1190fs	ENST00000267064.4	37	c.3570_3569	CCDS8907.1	12																																																																																			SMARCC2	-	NULL	ENSG00000139613		0.623	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1		0	84	0	GTCT		Frame_Shift_Del	56557551	-1	tier1		no_errors	ENST00000267064	ensembl	human	known	74_37	frame_shift_del	32.53	56	27	DEL	1.000:1.000	-	-	56557551	GTCT	-	56557548	8	5	4	1	0	1	0	1	0	0	1	0	14821	1275	44	0	78	0	SMARCC2	12	56557548	Splice_Site	DEL	GTCT	TCGA-2H-A9GI-01A-11D-A37C-09	42455	56557548	77294347	223	1134											
TIMELESS	8914	genome.wustl.edu	37	chr12	56817448	56817448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcctcctcctcCtcttcttcttcctctgcccc	0	17	1	23	0	5	0	0	0	5	0	12	0	12	0	9	0	1	0	9	0	0	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:56817448C>T	ENST00000553532.1	-	17	2160	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	TIMELESS_ENST00000229201.4_Silent_p.E669E|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock									p.E670E(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						cctcctcctcctcttcttctt	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											51	49	50					12																	56817448		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2010G>A	12.37:g.56817448C>T				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.E670	ENST00000553532.1	37	c.2010	CCDS8918.1	12																																																																																			TIMELESS	-	NULL	ENSG00000111602		0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0	28	0	C	NM_003920		56817448	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.863	T	T	56817448	C	T	56817448	2	4	4	1	0	0	0	0	0	0	0	1	15951	680	24	3		3	TIMELESS	12	56817448	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	259900	56817448	77034447	224	1135											
LRP1	4035	genome.wustl.edu	37	chr12	57587720	57587720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagttccgctgccgggacGggacctgcatcgggaactcc	6	6	15	14	5	0	0	0	0	0	0	3	4	2	3	4	3	3	3	4	3	1	1	rs372493625		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:57587720G>A	ENST00000243077.3	+	48	8309	c.7843G>A	c.(7843-7845)Ggg>Agg	p.G2615R	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2615	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCCGGGACGGGACCTGCAT	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		18359	0		0	False		,,,				2504	0																0								G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	101	92	95		7843	5.1	1	12		95	0,8600		0,0,4300	no	missense	LRP1	NM_002332.2	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2615/4545	57587720	1,13005	2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7843G>A	12.37:g.57587720G>A	ENSP00000243077:p.Gly2615Arg		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2615R	ENST00000243077.3	37	c.7843	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991279	0.74703	2.27E-4	0.0	ENSG00000123384	ENST00000243077	D	0.92805	-3.11	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000001	D	0.95959	0.8684	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96114	0.9079	10	0.66056	D	0.02	.	17.4961	0.87718	0.0:0.0:1.0:0.0	.	2615	Q07954	LRP1_HUMAN	R	2615	ENSP00000243077:G2615R	ENSP00000243077:G2615R	G	+	1	0	LRP1	55873987	1.000000	0.71417	0.976000	0.42696	0.530000	0.34684	9.593000	0.98250	2.651000	0.90000	0.650000	0.86243	GGG	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0	129	0	G	NM_002332		57587720	1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	28.74	62	25	SNP	1.000	A	A	57587720	G	A	57587720	3	1	4	1	0	0	0	0	1	0	0	0	8986	1116	39	1	8033	1	LRP1	12	57587720	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	770272	57587720	76264175	225	1136											
CYP27B1	1594	genome.wustl.edu	37	chr12	58160778	58160778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccaactcgggcgcccagCggacgcgatggaacactctg	8	4	13	16	6	1	0	0	0	1	0	2	3	1	2	2	3	3	0	2	3	2	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:58160778C>T	ENST00000228606.4	-	1	256	c.47G>A	c.(46-48)cGc>cAc	p.R16H	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	16					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	GGGCGCCCAGCGGACGCGATG	0.617																																																	0													81	97	92					12																	58160778		2203	4300	6503	SO:0001583	missense	0			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"Cytochrome P450s"	2606	protein-coding gene	gene with protein product	"VDDR I", "1alpha(OH)ase", "25-Hydroxyvitamin D3 1alpha-hydroxylase"	609506	"cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.47G>A	12.37:g.58160778C>T	ENSP00000228606:p.Arg16His		B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R16H	ENST00000228606.4	37	c.47	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487600	0.44249	.	.	ENSG00000111012	ENST00000228606	T	0.77229	-1.08	5.26	-2.42	0.06542	.	0.255560	0.35235	N	0.003359	T	0.49898	0.1584	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30179	-0.9987	10	0.49607	T	0.09	.	4.1659	0.10306	0.3473:0.3885:0.0:0.2642	.	16	O15528	CP27B_HUMAN	H	16	ENSP00000228606:R16H	ENSP00000228606:R16H	R	-	2	0	CYP27B1	56447045	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.647000	0.05397	-0.700000	0.05070	0.655000	0.94253	CGC	CYP27B1	-	NULL	ENSG00000111012		0.617	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1		0	82	0	C	NM_000785		58160778	-1			no_errors	ENST00000228606	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.000	T	T	58160778	C	T	58160778	3	4	4	1	0	0	0	0	1	0	0	0	4168	768	27	1	1515	1	CYP27B1	12	58160778	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	573058	58160778	75691117	226	1137											
TPH2	121278	genome.wustl.edu	37	chr12	72366400	72366400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcccactcatgcttgccGagagtatttgaaaaacttcc	11	12	6	12	1	1	2	1	1	0	1	3	3	3	2	3	0	3	2	3	0	4	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:72366400G>T	ENST00000333850.3	+	6	851	c.710G>T	c.(709-711)cGa>cTa	p.R237L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	237					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.R237L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CATGCTTGCCGAGAGTATTTG	0.463																																																	1	Substitution - Missense(1)	lung(1)											288	295	293					12																	72366400		2203	4300	6503	SO:0001583	missense	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.710G>T	12.37:g.72366400G>T	ENSP00000329093:p.Arg237Leu		A6NGA4|Q14CB0	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.R237L	ENST00000333850.3	37	c.710	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875850	0.72180	.	.	ENSG00000139287	ENST00000333850	D	0.99567	-6.18	5.48	3.67	0.42095	Aromatic amino acid hydroxylase, C-terminal (3);	0.166435	0.52532	D	0.000078	D	0.99208	0.9725	M	0.86343	2.81	0.53688	D	0.999971	B	0.29805	0.257	B	0.40038	0.317	D	0.99643	1.0989	10	0.62326	D	0.03	-7.8066	9.1108	0.36725	0.2214:0.0:0.7786:0.0	.	237	Q8IWU9	TPH2_HUMAN	L	237	ENSP00000329093:R237L	ENSP00000329093:R237L	R	+	2	0	TPH2	70652667	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	2.980000	0.49321	0.691000	0.31592	0.462000	0.41574	CGA	TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.463	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	-	0	69	0	G	NM_173353		72366400	1	tier1	-	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.965	T	T	72366400	G	T	72366400	3	4	4	1	0	0	0	0	1	0	0	0	16450	1058	37	2	732	2	TPH2	12	72366400	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	14205622	72366400	61485495	227	1138											
TPH2	121278	genome.wustl.edu	37	chr12	72388269	72388269	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccactacttgcggatcctaAgtttgctcagttttcacaag	9	14	7	11	1	2	0	2	0	0	0	4	1	4	1	2	1	3	3	2	1	3	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:72388269A>C	ENST00000333850.3	+	8	1133	c.992A>C	c.(991-993)aAg>aCg	p.K331T		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	331					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.K331M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCGGATCCTAAGTTTGCTCAG	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											153	148	150					12																	72388269		2203	4300	6503	SO:0001583	missense	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.992A>C	12.37:g.72388269A>C	ENSP00000329093:p.Lys331Thr		A6NGA4|Q14CB0	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.K331T	ENST00000333850.3	37	c.992	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252871	0.39797	.	.	ENSG00000139287	ENST00000333850	D	0.99454	-5.92	5.91	5.91	0.95273	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	N	0.11064	0.09	0.80722	D	1	B	0.06786	0.001	B	0.14023	0.01	D	0.95911	0.8923	10	0.22706	T	0.39	-19.856	16.3483	0.83171	1.0:0.0:0.0:0.0	.	331	Q8IWU9	TPH2_HUMAN	T	331	ENSP00000329093:K331T	ENSP00000329093:K331T	K	+	2	0	TPH2	70674536	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.572000	0.60886	2.254000	0.74563	0.533000	0.62120	AAG	TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.398	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	-	0	104	0	A	NM_173353		72388269	1	tier1	-	no_errors	ENST00000333850	ensembl	human	known	74_37	missense	35.94	41	23	SNP	1.000	C	C	72388269	A	C	72388269	3	2	4	1	0	0	0	0	1	0	0	0	16450	72	3	4	1022	4	TPH2	12	72388269	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	21869	72388269	61463626	228	1139											
GLIPR1	11010	genome.wustl.edu	37	chr12	75875698	75875698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacggctgaagccacccCacaagctgcacccaaacttc	13	5	6	17	1	0	1	0	1	0	0	1	1	0	1	4	1	5	3	4	1	4	2	rs148893348		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:75875698C>A	ENST00000266659.3	+	2	460	c.259C>A	c.(259-261)Cac>Aac	p.H87N	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	87	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.H87fs*33(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GAAGCCACCCCACAAGCTGCA	0.483																																																	1	Insertion - Frameshift(1)	large_intestine(1)						C	ASN/HIS	0,4406		0,0,2203	120	108	112		259	-8.5	0	12	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLIPR1	NM_006851.2	68	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	87/267	75875698	1,13005	2203	4300	6503	SO:0001583	missense	0			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.259C>A	12.37:g.75875698C>A	ENSP00000266659:p.His87Asn		A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.H87N	ENST00000266659.3	37	c.259	CCDS9011.1	12	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675917	0.29783	0.0	1.16E-4	ENSG00000139278	ENST00000266659;ENST00000456650	T;T	0.48201	0.82;0.82	4.69	-8.5	0.00927	CAP domain (3);	2.924510	0.01105	N	0.005467	T	0.17704	0.0425	N	0.02708	-0.52	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.22753	0.041;0.007	T	0.12451	-1.0547	10	0.16896	T	0.51	.	2.8757	0.05630	0.1279:0.3307:0.1373:0.4041	.	87;87	F6VVE8;P48060	.;GLIP1_HUMAN	N	87	ENSP00000266659:H87N;ENSP00000391144:H87N	ENSP00000266659:H87N	H	+	1	0	GLIPR1	74161965	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-3.213000	0.00555	-1.275000	0.02417	-2.157000	0.00329	CAC	GLIPR1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000139278		0.483	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1		0	73	0	C	NM_006851		75875698	1			no_errors	ENST00000266659	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.000	A	A	75875698	C	A	75875698	3	1	4	1	0	0	0	0	1	0	0	0	6467	594	21	3	265	3	GLIPR1	12	75875698	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	3487429	75875698	57976197	229	1140											
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100466569	100466569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcttttgggggaagaaCgacattgttccgctgtagag	9	12	13	7	2	1	2	1	0	0	2	2	4	2	3	1	2	2	4	1	2	3	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:100466569C>A	ENST00000279907.7	-	12	1642	c.1430G>T	c.(1429-1431)cGt>cTt	p.R477L	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R127L|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.R477L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	477										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGGGGAAGAACGACATTGTTC	0.343																																																	0													81	87	85					12																	100466569		2203	4300	6503	SO:0001583	missense	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1430G>T	12.37:g.100466569C>A	ENSP00000279907:p.Arg477Leu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.R477L	ENST00000279907.7	37	c.1430	CCDS31882.1	12	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781021	0.90282	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000548045;ENST00000551973;ENST00000550544	T;T;T;T	0.39592	2.82;2.78;1.46;1.07	5.76	4.88	0.63580	.	0.051315	0.85682	D	0.000000	T	0.55016	0.1894	M	0.69823	2.125	0.80722	D	1	P;P	0.51537	0.946;0.505	P;B	0.52109	0.69;0.157	T	0.61272	-0.7096	10	0.72032	D	0.01	-8.6684	14.578	0.68265	0.0:0.9301:0.0:0.0699	.	477;477	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	L	477;127;477;66;127;66	ENSP00000279907:R477L;ENSP00000444824:R127L;ENSP00000349285:R477L;ENSP00000448226:R127L	ENSP00000279907:R477L	R	-	2	0	UHRF1BP1L	98990700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.904000	0.63279	1.442000	0.47568	0.591000	0.81541	CGT	UHRF1BP1L	-	NULL	ENSG00000111647		0.343	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1		0	79	0	C	NM_001006947		100466569	-1			no_errors	ENST00000279907	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	100466569	C	A	100466569	3	1	4	1	0	0	0	0	1	0	0	0	17018	536	19	2	3028	2	UHRF1BP1L	12	100466569	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	24590871	100466569	33385326	230	1141											
PAH	5053	genome.wustl.edu	37	chr12	103288680	103288680	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagattcaatgtgggtcAggtttacatcattctcctag	9	15	9	8	0	5	1	3	0	2	1	6	1	5	1	1	2	1	1	1	2	4	6	rs199475570		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:103288680A>C	ENST00000553106.1	-	3	657	c.185T>G	c.(184-186)cTg>cGg	p.L62R	PAH_ENST00000307000.2_Missense_Mutation_p.L57R|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	62	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.		L -> P (in PKU). {ECO:0000269|PubMed:22513348}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.L62Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AATGTGGGTCAGGTTTACATC	0.438																																																	1	Substitution - Missense(1)	kidney(1)											109	103	105					12																	103288680		2203	4300	6503	SO:0001583	missense	0			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.185T>G	12.37:g.103288680A>C	ENSP00000448059:p.Leu62Arg		Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.L62R	ENST00000553106.1	37	c.185	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676511	0.88445	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99239	-5.61;-5.61;-5.61;-5.61	6.17	6.17	0.99709	Amino acid-binding ACT (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.974	D	0.97270	0.9910	10	0.87932	D	0	-11.9671	16.8222	0.85835	1.0:0.0:0.0:0.0	.	62;62	B4DPN2;P00439	.;PH4H_HUMAN	R	62;57;62;62	ENSP00000448059:L62R;ENSP00000303500:L57R;ENSP00000447620:L62R;ENSP00000446658:L62R	ENSP00000303500:L57R	L	-	2	0	PAH	101812810	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.400000	0.90200	2.371000	0.80710	0.533000	0.62120	CTG	PAH	-	pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra	ENSG00000171759		0.438	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1		0	44	0	A			103288680	-1			no_errors	ENST00000553106	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	C	C	103288680	A	C	103288680	3	2	4	1	0	0	0	0	1	0	0	0	11433	188	7	4	1217	4	PAH	12	103288680	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	2822111	103288680	30563215	231	1142											
GCN1L1	10985	genome.wustl.edu	37	chr12	120589038	120589038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcgagaggatgcccaggCccttcaccaggcccgccagg	8	4	13	16	2	2	1	2	0	0	1	2	3	2	2	5	4	2	0	5	4	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:120589038C>A	ENST00000300648.6	-	34	4232	c.4220G>T	c.(4219-4221)gGc>gTc	p.G1407V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1407					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATGCCCAGGCCCTTCACCAG	0.602																																																	0													52	58	56					12																	120589038		2147	4241	6388	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4220G>T	12.37:g.120589038C>A	ENSP00000300648:p.Gly1407Val		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G1407V	ENST00000300648.6	37	c.4220	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731122	0.89390	.	.	ENSG00000089154	ENST00000300648	T	0.63913	-0.07	5.28	5.28	0.74379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90770	0.4671	10	0.87932	D	0	-19.2162	18.9124	0.92491	0.0:1.0:0.0:0.0	.	1407	Q92616	GCN1L_HUMAN	V	1407	ENSP00000300648:G1407V	ENSP00000300648:G1407V	G	-	2	0	GCN1L1	119073421	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.583000	0.82559	2.490000	0.84030	0.561000	0.74099	GGC	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	-	0	30	0	C			120589038	-1	tier1	-	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	A	A	120589038	C	A	120589038	3	1	4	1	0	0	0	0	1	0	0	0	6324	739	26	3	3895	3	GCN1L1	12	120589038	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	17300358	120589038	13262857	232	1143											
RIMBP2	23504	genome.wustl.edu	37	chr12	130929802	130929802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttctcgttcggtccatcGaaggggttgtaactgcagag	7	11	15	8	3	1	1	0	0	1	1	5	2	2	1	1	4	2	5	1	4	2	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:130929802G>T	ENST00000261655.4	-	7	706	c.543C>A	c.(541-543)ttC>ttA	p.F181L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.F89L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.F89L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	181	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCGGTCCATCGAAGGGGTTGT	0.562																																																	0													130	110	117					12																	130929802		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.543C>A	12.37:g.130929802G>T	ENSP00000261655:p.Phe181Leu		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.F181L	ENST00000261655.4	37	c.543	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307666	0.60305	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.57907	0.37;0.37;0.37	3.38	-3.43	0.04810	Src homology-3 domain (3);	0.131711	0.53938	D	0.000060	T	0.42988	0.1227	N	0.05050	-0.12	0.32486	N	0.540797	B;D	0.71674	0.388;0.998	B;D	0.85130	0.19;0.997	T	0.53308	-0.8457	10	0.27082	T	0.32	-21.8991	10.7649	0.46288	0.6592:0.0:0.3408:0.0	.	89;181	O15034-2;O15034	.;RIMB2_HUMAN	L	181;89;89;89	ENSP00000261655:F181L;ENSP00000440347:F89L;ENSP00000439159:F89L	ENSP00000261655:F181L	F	-	3	2	RIMBP2	129495755	0.309000	0.24518	0.977000	0.42913	0.599000	0.36880	-0.193000	0.09573	-0.624000	0.05611	0.561000	0.74099	TTC	RIMBP2	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.562	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1		0	54	0	G	NM_015347		130929802	-1			no_errors	ENST00000261655	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.953	T	T	130929802	G	T	130929802	3	4	4	1	0	0	0	0	1	0	0	0	13408	1049	37	2	2667	2	RIMBP2	12	130929802	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	10340764	130929802	2922093	233	1144											
DDX51	317781	genome.wustl.edu	37	chr12	132624261	132624261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcttgctggagagctcgtgCcgctgcaactcaggtgcccc	6	8	13	14	2	1	1	1	0	0	1	2	2	1	1	3	2	7	5	3	2	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr12:132624261C>T	ENST00000397333.3	-	14	1931	c.1893G>A	c.(1891-1893)cgG>cgA	p.R631R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	631	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AGAGCTCGTGCCGCTGCAACT	0.612																																																	0													48	54	52					12																	132624261		2013	4162	6175	SO:0001819	synonymous_variant	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1893G>A	12.37:g.132624261C>T			A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R631	ENST00000397333.3	37	c.1893	CCDS41865.1	12																																																																																			DDX51	-	pfscan_Helicase_C	ENSG00000185163		0.612	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1	-	0	44	0	C	NM_175066		132624261	-1	tier1	-	no_errors	ENST00000397333	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.985	T	T	132624261	C	T	132624261	2	4	4	1	0	0	0	0	0	0	0	1	4378	726	26	3		3	DDX51	12	132624261	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1694459	132624261	1227634	234	1145											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751310	19751310	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagatgaccggggcgtaGgtggccagggggaagtggat	8	6	21	6	2	0	2	0	2	0	1	0	5	0	4	2	7	0	2	2	7	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:19751310G>T	ENST00000400113.3	-	4	917	c.813C>A	c.(811-813)acC>acA	p.T271T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	271					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCGGGGCGTAGGTGGCCAGGG	0.607																																																	0													126	116	119					13																	19751310		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.813C>A	13.37:g.19751310G>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.T271	ENST00000400113.3	37	c.813	CCDS9284.1	13																																																																																			TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom	ENSG00000198033		0.607	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	94	0	G	NM_006001		19751310	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	silent	65.14	38	71	SNP	1.000	T	T	19751310	G	T	19751310	2	4	4	1	0	0	0	0	0	0	0	1	16795	987	35	3		3	TUBA3C	13	19751310	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		19751310	95418568	235	1146											
SACS	26278	genome.wustl.edu	37	chr13	23912160	23912160	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacagaaaaatcatcatgaActaaatcaggatcgggccat	17	9	7	8	1	3	2	3	1	0	1	4	3	3	3	1	2	2	0	1	2	6	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:23912160A>C	ENST00000382292.3	-	9	6128	c.5855T>G	c.(5854-5856)gTt>gGt	p.V1952G	SACS_ENST00000382298.3_Missense_Mutation_p.V1952G|SACS_ENST00000402364.1_Missense_Mutation_p.V1202G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1952					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATCATCATGAACTAAATCAGG	0.408																																																	0													81	79	80					13																	23912160		2203	4299	6502	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5855T>G	13.37:g.23912160A>C	ENSP00000371729:p.Val1952Gly		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.V1952G	ENST00000382292.3	37	c.5855	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	16.43	3.121847	0.56613	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90133	-2.38;-2.62;-2.38	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	M	0.66939	2.045	0.80722	D	1	B	0.24721	0.11	B	0.24974	0.057	D	0.87301	0.2305	10	0.48119	T	0.1	.	16.0591	0.80826	1.0:0.0:0.0:0.0	.	1952	Q9NZJ4	SACS_HUMAN	G	1952;1202;1952	ENSP00000371729:V1952G;ENSP00000385844:V1202G;ENSP00000371735:V1952G	ENSP00000371729:V1952G	V	-	2	0	SACS	22810160	1.000000	0.71417	0.445000	0.26908	0.394000	0.30568	8.962000	0.93254	2.190000	0.69967	0.482000	0.46254	GTT	SACS	-	NULL	ENSG00000151835		0.408	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	32	0	A	NM_014363		23912160	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	59.57	19	28	SNP	0.998	C	C	23912160	A	C	23912160	3	2	4	1	0	0	0	0	1	0	0	0	13849	43	2	4	7888	4	SACS	13	23912160	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	4160850	23912160	91257718	236	1147											
C13orf23	80209	genome.wustl.edu	37	chr13	39585557	39585557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaatggtgttcctggcGctgaaggataactaggaaac	15	8	12	6	1	0	2	0	1	0	1	1	4	1	4	1	4	2	2	1	4	7	3	rs201222446		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:39585557G>T	ENST00000352251.3	-	13	3613	c.2780C>A	c.(2779-2781)gCg>gAg	p.A927E	PROSER1_ENST00000350125.3_Missense_Mutation_p.A905E|PROSER1_ENST00000484434.3_5'UTR	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	927																	TGTTCCTGGCGCTGAAGGATA	0.478																																																	0													88	84	86					13																	39585557		2203	4300	6503	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2780C>A	13.37:g.39585557G>T	ENSP00000332034:p.Ala927Glu		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.A927E	ENST00000352251.3	37	c.2780	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955965	0.34471	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.35789	1.29;1.29	5.98	5.98	0.97165	.	.	.	.	.	T	0.25644	0.0624	N	0.14661	0.345	0.09310	N	1	P;P	0.36438	0.493;0.553	B;B	0.37091	0.241;0.24	T	0.16217	-1.0410	8	.	.	.	-5.5433	14.9653	0.71188	0.0:0.1421:0.8579:0.0	.	905;927	A6NJ97;Q86XN7	.;PRSR1_HUMAN	E	927;905	ENSP00000332034:A927E;ENSP00000339123:A905E	.	A	-	2	0	PROSER1	38483557	0.984000	0.35163	0.060000	0.19600	0.352000	0.29268	4.733000	0.62036	2.837000	0.97791	0.591000	0.81541	GCG	PROSER1	-	NULL	ENSG00000120685		0.478	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0	58	0	G	NM_025138		39585557	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.328	T	T	39585557	G	T	39585557	3	4	4	1	0	0	0	0	1	0	0	0	1726	1087	38	2	58	2	C13orf23	13	39585557	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	15673397	39585557	75584321	237	1148											
SETDB2	83852	genome.wustl.edu	37	chr13	50042008	50042008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttttgtgtagatcctatgCctgtgactcagaaggaacag	10	14	10	7	0	1	3	1	1	0	2	2	4	2	4	2	1	2	1	2	1	4	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:50042008C>T	ENST00000317257.8	+	6	1078	c.253C>T	c.(253-255)Cct>Tct	p.P85S	SETDB2_ENST00000354234.4_Missense_Mutation_p.P73S|SETDB2_ENST00000258672.5_Missense_Mutation_p.P73S	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	85					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGATCCTATGCCTGTGACTCA	0.343																																																	0													95	88	91					13																	50042008		2203	4299	6502	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.253C>T	13.37:g.50042008C>T	ENSP00000326477:p.Pro85Ser		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.P85S	ENST00000317257.8	37	c.253	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	C	2.948	-0.217315	0.06101	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.85556	-1.91;-2.0;1.4	4.96	0.534	0.17127	.	0.703769	0.14235	N	0.332454	T	0.56804	0.2010	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.19445	0.036;0.006;0.007	B;B;B	0.20184	0.028;0.007;0.004	T	0.46830	-0.9163	10	0.09843	T	0.71	.	0.2358	0.00186	0.2114:0.29:0.2093:0.2894	.	85;73;85	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	S	73;85;73	ENSP00000346175:P73S;ENSP00000326477:P85S;ENSP00000258672:P73S	ENSP00000258672:P73S	P	+	1	0	SETDB2	48940009	0.061000	0.20836	0.088000	0.20740	0.580000	0.36256	0.074000	0.14662	0.255000	0.21593	0.655000	0.94253	CCT	SETDB2	-	NULL	ENSG00000136169		0.343	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0	52	0	C	NM_031915		50042008	1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.029	T	T	50042008	C	T	50042008	3	4	4	1	0	0	0	0	1	0	0	0	14184	739	26	3	271	3	SETDB2	13	50042008	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	10456451	50042008	65127870	238	1149											
PCDH9	5101	genome.wustl.edu	37	chr13	67799672	67799672	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaaaggtgttgtccaaaggGagttcctgaatcacgtggtg	11	10	13	7	1	1	1	1	1	0	0	3	2	3	2	2	3	0	2	2	3	3	2	rs530659661		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:67799672G>C	ENST00000377865.2	-	1	3035	c.2901C>G	c.(2899-2901)ctC>ctG	p.L967L	PCDH9_ENST00000328454.5_Silent_p.L967L|PCDH9_ENST00000456367.1_Silent_p.L967L|PCDH9_ENST00000377861.3_Silent_p.L967L|PCDH9_ENST00000544246.1_Silent_p.L967L			Q9HC56	PCDH9_HUMAN	protocadherin 9	967					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTCCAAAGGGAGTTCCTGAA	0.493													G|||	1	0.000199681	0	0	5008	,	,		18687	0.001		0	False		,,,				2504	0																0													151	149	150					13																	67799672		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2901C>G	13.37:g.67799672G>C			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L967	ENST00000377865.2	37	c.2901	CCDS9444.1	13																																																																																			PCDH9	-	pfam_Protocadherin	ENSG00000184226		0.493	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	39	0	G	NM_203487		67799672	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	silent	15.56	38	7	SNP	1.000	C	C	67799672	G	C	67799672	2	2	4	1	0	0	0	0	0	0	0	1	11557	1161	41	5		5	PCDH9	13	67799672	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	17757664	67799672	47370206	239	1150											
LMO7	4008	genome.wustl.edu	37	chr13	76195835	76195835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattacaactgctatgaaGaaaattaggatatgccatat	16	14	6	5	0	0	2	0	1	0	1	0	3	0	3	1	1	4	1	1	1	10	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:76195835G>T	ENST00000341547.4	+	1	1266	c.6G>T	c.(4-6)aaG>aaT	p.K2N	RP11-29G8.3_ENST00000563635.1_RNA|RP11-173B14.5_ENST00000568302.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.K2N|RP11-173B14.5_ENST00000568735.1_RNA|LMO7_ENST00000377534.3_Missense_Mutation_p.K2N	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	2					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K2N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTGCTATGAAGAAAATTAGGA	0.363																																																	2	Substitution - Missense(2)	large_intestine(2)											41	39	40					13																	76195835		2203	4300	6503	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.6G>T	13.37:g.76195835G>T	ENSP00000342112:p.Lys2Asn		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.K2N	ENST00000341547.4	37	c.6	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632418	0.46944	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534	T;T;T	0.35789	1.29;1.35;1.4	5.22	2.09	0.27110	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.59424	0.857	T	0.28004	-1.0057	8	0.87932	D	0	.	5.2303	0.15418	0.4114:0.0:0.5886:0.0	.	2	Q8WWI1-3	.	N	2	ENSP00000342112:K2N;ENSP00000349571:K2N;ENSP00000366757:K2N	ENSP00000342112:K2N	K	+	3	2	LMO7	75093836	1.000000	0.71417	0.223000	0.23860	0.323000	0.28346	1.140000	0.31516	0.603000	0.29913	0.561000	0.74099	AAG	LMO7	-	NULL	ENSG00000136153		0.363	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1		0	40	0	G	NM_005358		76195835	1			no_errors	ENST00000357063	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.007	T	T	76195835	G	T	76195835	3	4	4	1	0	0	0	0	1	0	0	0	8885	933	33	3	8	3	LMO7	13	76195835	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	8396163	76195835	38974043	240	1151											
IRS2	8660	genome.wustl.edu	37	chr13	110436549	110436549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccttgggagaggacgCggggcaggacgggcagaggc	8	2	21	10	3	0	2	0	0	0	2	0	5	0	4	2	8	0	2	2	8	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:110436549C>T	ENST00000375856.3	-	1	2366	c.1852G>A	c.(1852-1854)Gcg>Acg	p.A618T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	618					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGAGAGGACGCGGGGCAGGAC	0.692																																					Melanoma(100;613 2409 40847)												0													15	18	17					13																	110436549		2183	4292	6475	SO:0001583	missense	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1852G>A	13.37:g.110436549C>T	ENSP00000365016:p.Ala618Thr		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A618T	ENST00000375856.3	37	c.1852	CCDS9510.1	13	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151651	0.06585	.	.	ENSG00000185950	ENST00000375856	T	0.20598	2.06	3.19	3.19	0.36642	.	0.347136	0.30177	U	0.010222	T	0.36908	0.0984	L	0.56769	1.78	0.31520	N	0.66251	D	0.89917	1.0	D	0.73708	0.981	T	0.25398	-1.0133	10	0.19147	T	0.46	-15.2542	12.6661	0.56844	0.0:1.0:0.0:0.0	.	618	Q9Y4H2	IRS2_HUMAN	T	618	ENSP00000365016:A618T	ENSP00000365016:A618T	A	-	1	0	IRS2	109234550	0.104000	0.21937	0.357000	0.25798	0.775000	0.43874	0.252000	0.18278	2.072000	0.62099	0.549000	0.68633	GCG	IRS2	-	NULL	ENSG00000185950		0.692	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	-	0	21	0	C	NM_003749		110436549	-1	tier1	-	no_errors	ENST00000375856	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.886	T	T	110436549	C	T	110436549	3	4	4	1	0	0	0	0	1	0	0	0	7868	768	27	1	2172	1	IRS2	13	110436549	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	34240714	110436549	4733329	241	1152											
UPF3A	65110	genome.wustl.edu	37	chr13	115067491	115067491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacccagaaaagagcgactGgcaaacaaggtttttattaa	16	8	9	8	1	0	2	0	0	0	2	0	3	0	2	1	2	2	3	1	2	6	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr13:115067491G>A	ENST00000375299.3	+	9	1349	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	UPF3A_ENST00000351487.5_Silent_p.L398L|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	431	Required for association with EIF4A3 and ECJ core components CASC3, MAGOH and RBM8A.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		AAGAGCGACTGGCAAACAAGG	0.552																																																	0													22	29	26					13																	115067491		2162	4276	6438	SO:0001819	synonymous_variant	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.1293G>A	13.37:g.115067491G>A			A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	pfam_Nonsense_mediated_decay_UPF3	p.L431	ENST00000375299.3	37	c.1293	CCDS9543.1	13																																																																																			UPF3A	-	NULL	ENSG00000169062		0.552	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2	-	0	44	0	G			115067491	1	tier1	-	no_errors	ENST00000375299	ensembl	human	known	74_37	silent	16.28	36	7	SNP	0.521	A	A	115067491	G	A	115067491	2	1	4	1	0	0	0	0	0	0	0	1	17054	1335	47	3		3	UPF3A	13	115067491	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4630942	115067491	102387	242	1153											
OR11H12	440153	genome.wustl.edu	37	chr14	19378218	19378218	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggattgtgtttctgccccaAgaatccaactgttttgctac	8	15	8	10	0	1	1	0	0	1	1	2	2	2	2	3	1	4	3	3	1	4	5	rs201735699	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:19378218A>T	ENST00000550708.1	+	1	697	c.625A>T	c.(625-627)Aga>Tga	p.R209*		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTGCCCCAAGAATCCAACT	0.428																																																	0													1	1	1					14																	19378218		512	1129	1641	SO:0001587	stop_gained	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.625A>T	14.37:g.19378218A>T	ENSP00000449002:p.Arg209*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R209*	ENST00000550708.1	37	c.625	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	a	14.06	2.421873	0.43020	.	.	ENSG00000257115	ENST00000550708	.	.	.	0.585	0.585	0.17428	.	1.638080	0.03996	N	0.295714	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	.	.	.	.	.	.	.	X	209	.	ENSP00000449002:R209X	R	+	1	2	CR383656.1	18448218	0.000000	0.05858	0.457000	0.27056	0.201000	0.24016	-3.969000	0.00323	0.518000	0.28383	0.055000	0.15244	AGA	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000257115		0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	-	0	42	0	A	NM_001013354		19378218	1	tier1	-	no_errors	ENST00000550708	ensembl	human	known	74_37	nonsense	25.00	18	6	SNP	0.065	T	T	19378218	A	T	19378218	4	4	4	1	0	0	0	0	0	1	0	0	10966	64	3	5	627	5	OR11H12	14	19378218	Nonsense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09		19378218	87971322	243	1154											
MYH6	4624	genome.wustl.edu	37	chr14	23863430	23863430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctccttctccgtctctgcGctcttcagcagcggcttgat	4	14	8	15	3	5	1	1	1	4	0	8	1	5	1	2	1	3	3	2	1	0	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:23863430G>A	ENST00000356287.3	-	20	2561	c.2532C>T	c.(2530-2532)agC>agT	p.S844S	MYH6_ENST00000405093.3_Silent_p.S844S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	844					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGTCTCTGCGCTCTTCAGCA	0.567																																																	0													115	106	109					14																	23863430		2203	4300	6503	SO:0001819	synonymous_variant	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2532C>T	14.37:g.23863430G>A			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S844	ENST00000356287.3	37	c.2532	CCDS9600.1	14																																																																																			MYH6	-	NULL	ENSG00000197616		0.567	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	46	0	G			23863430	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.904	A	A	23863430	G	A	23863430	2	1	4	1	0	0	0	0	0	0	0	1	10076	1078	38	1		1	MYH6	14	23863430	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4485212	23863430	83486110	244	1155											
MYH7	4625	genome.wustl.edu	37	chr14	23890230	23890230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcatcctcaatccttgcGttgagagcattcagctcaaa	10	13	7	11	1	4	1	4	1	0	1	6	2	6	1	2	0	3	4	2	0	2	4	rs200664031		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:23890230G>A	ENST00000355349.3	-	26	3435	c.3273C>T	c.(3271-3273)aaC>aaT	p.N1091N	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1091					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.N1091N(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAATCCTTGCGTTGAGAGCAT	0.567																																																	1	Substitution - coding silent(1)	endometrium(1)											92	85	87					14																	23890230		2203	4300	6503	SO:0001819	synonymous_variant	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3273C>T	14.37:g.23890230G>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N1091	ENST00000355349.3	37	c.3273	CCDS9601.1	14																																																																																			MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.567	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	51	0	G	NM_000257		23890230	-1	tier1	rs200664031	no_errors	ENST00000355349	ensembl	human	known	74_37	silent	55.56	12	15	SNP	0.023	A	A	23890230	G	A	23890230	2	1	4	1	0	0	0	0	0	0	0	1	10077	1136	40	1		1	MYH7	14	23890230	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	26800	23890230	83459310	245	1156											
FANCM	57697	genome.wustl.edu	37	chr14	45665547	45665547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtaatttcttccctaaGagcaattcatgggttgcaag	13	12	9	7	0	2	2	1	0	1	2	3	2	3	2	1	1	2	4	1	1	5	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:45665547G>T	ENST00000267430.5	+	21	5598	c.5513G>T	c.(5512-5514)aGa>aTa	p.R1838I	FANCM_ENST00000542564.2_Missense_Mutation_p.R1812I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1838	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCTTCCCTAAGAGCAATTCAT	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													133	123	126					14																	45665547		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5513G>T	14.37:g.45665547G>T	ENSP00000267430:p.Arg1838Ile		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1838I	ENST00000267430.5	37	c.5513	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.91|19.91	3.914689|3.914689	0.72983|0.72983	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.21191	.|2.66;2.63;2.02	5.27|5.27	4.38|4.38	0.52667|0.52667	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (1);	.|1.590150	.|0.05018	.|N	.|0.472212	T|T	0.44329|0.44329	0.1288|0.1288	M|M	0.71581|0.71581	2.175|2.175	0.43313|0.43313	D|D	0.995328|0.995328	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.69307	.|0.942;0.963	T|T	0.46569|0.46569	-0.9182|-0.9182	5|10	.|0.87932	.|D	.|0	.|.	5.3144|5.3144	0.15847|0.15847	0.2849:0.0:0.7151:0.0|0.2849:0.0:0.7151:0.0	.|.	.|1812;1838	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	N|I	805|1838;1812;1354	.|ENSP00000267430:R1838I;ENSP00000442493:R1812I;ENSP00000452033:R1354I	.|ENSP00000267430:R1838I	K|R	+|+	3|2	2|0	FANCM|FANCM	44735297|44735297	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.997000|0.997000	0.91878|0.91878	3.275000|3.275000	0.51639|0.51639	2.468000|2.468000	0.83385|0.83385	0.563000|0.563000	0.77884|0.77884	AAG|AGA	FANCM	-	superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain	ENSG00000187790		0.418	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	90	0	G	XM_048128		45665547	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.957	T	T	45665547	G	T	45665547	3	4	4	1	0	0	0	0	1	0	0	0	5693	942	33	3	5595	3	FANCM	14	45665547	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	21775317	45665547	61683993	246	1157											
C14orf118	55668	genome.wustl.edu	37	chr14	76620929	76620929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctggatgaggccactaagGactgtcgagaagtggctccg	9	8	15	9	2	1	2	0	1	1	1	3	5	2	4	2	4	0	1	2	4	2	1	rs140112317		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr14:76620929G>T	ENST00000261530.7	+	2	289	c.223G>T	c.(223-225)Gac>Tac	p.D75Y	GPATCH2L_ENST00000556663.1_Missense_Mutation_p.D75Y|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.D75Y|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.D75Y	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	75								p.D75Y(2)									GGCCACTAAGGACTGTCGAGA	0.532																																																	2	Substitution - Missense(2)	lung(2)						G	TYR/ASP,TYR/ASP	1,4405	2.1+/-5.4	0,1,2202	76	69	71		223,223	5.4	1	14	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense	C14orf118	NM_017926.2,NM_017972.2	160,160	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	75/483,75/478	76620929	1,13005	2203	4300	6503	SO:0001583	missense	0			AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 118"	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.223G>T	14.37:g.76620929G>T	ENSP00000261530:p.Asp75Tyr		B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	NULL	p.D75Y	ENST00000261530.7	37	c.223	CCDS9848.1	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527341	0.85706	2.27E-4	0.0	ENSG00000089916	ENST00000336993;ENST00000557542;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.58940	0.36;0.54;0.3;0.36	5.37	5.37	0.77165	.	0.315484	0.29940	N	0.010802	T	0.74527	0.3728	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.85130	0.98;0.997;0.935	T	0.76550	-0.2918	10	0.87932	D	0	-39.1381	19.1142	0.93331	0.0:0.0:1.0:0.0	.	75;75;75	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	Y	75	ENSP00000451587:D75Y;ENSP00000323775:D75Y;ENSP00000261530:D75Y;ENSP00000450657:D75Y	ENSP00000261530:D75Y	D	+	1	0	C14orf118	75690682	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.101000	0.94219	2.516000	0.84829	0.655000	0.94253	GAC	GPATCH2L	-	NULL	ENSG00000089916		0.532	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	GPATCH2L	HGNC	protein_coding	OTTHUMT00000413698.2		0	33	0	G	NM_017926		76620929	1			no_errors	ENST00000261530	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	76620929	G	T	76620929	3	4	4	1	0	0	0	0	1	0	0	0	1746	1174	41	3	225	3	C14orf118	14	76620929	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	30955382	76620929	30728611	247	1158											
ATP10A	57194	genome.wustl.edu	37	chr15	25959376	25959376	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccggggacttcagctcaaAcctcaccctcacctgcaaga	11	6	7	17	1	4	1	4	0	0	1	4	2	4	2	4	2	3	2	4	2	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:25959376A>C	ENST00000356865.6	-	10	1900	c.1789T>G	c.(1789-1791)Ttt>Gtt	p.F597V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	597					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCAGCTCAAACCTCACCCTC	0.612																																																	0													31	36	34					15																	25959376		2191	4288	6479	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1789T>G	15.37:g.25959376A>C	ENSP00000349325:p.Phe597Val		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.F597V	ENST00000356865.6	37	c.1789	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	A	13.05	2.120678	0.37436	.	.	ENSG00000206190	ENST00000356865	T	0.09911	2.93	4.62	3.5	0.40072	HAD-like domain (1);	0.437967	0.28360	N	0.015637	T	0.10637	0.0260	L	0.55481	1.735	0.41301	D	0.987042	B	0.16802	0.019	B	0.16722	0.016	T	0.10382	-1.0632	10	0.17369	T	0.5	-9.208	9.9491	0.41628	0.92:0.0:0.08:0.0	.	597	O60312	AT10A_HUMAN	V	597	ENSP00000349325:F597V	ENSP00000349325:F597V	F	-	1	0	ATP10A	23510469	1.000000	0.71417	0.224000	0.23877	0.935000	0.57460	5.407000	0.66363	0.825000	0.34637	0.533000	0.62120	TTT	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.612	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	82	0	A	NM_024490		25959376	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	22.41	45	13	SNP	0.997	C	C	25959376	A	C	25959376	3	2	4	1	0	0	0	0	1	0	0	0	1117	43	2	4	2758	4	ATP10A	15	25959376	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09		25959376	76572016	248	1159											
RYR3	6263	genome.wustl.edu	37	chr15	33895328	33895328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtttactttcagtatcCggccaaacatcttcctggga	9	13	7	12	1	2	0	1	0	1	0	4	1	4	1	4	2	2	2	4	2	3	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:33895328C>T	ENST00000389232.4	+	18	1997	c.1927C>T	c.(1927-1929)Cgg>Tgg	p.R643W	RYR3_ENST00000415757.3_Missense_Mutation_p.R643W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	643	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTTCAGTATCCGGCCAAACAT	0.512																																																	0													75	79	78					15																	33895328		2019	4174	6193	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1927C>T	15.37:g.33895328C>T	ENSP00000373884:p.Arg643Trp		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R643W	ENST00000389232.4	37	c.1927	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473956	0.63737	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97186	-4.28;-4.28	5.35	4.42	0.53409	B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	D	0.98501	0.9500	M	0.89601	3.045	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99301	1.0901	10	0.87932	D	0	.	12.1659	0.54129	0.4728:0.5272:0.0:0.0	.	643;643	Q15413-2;Q15413	.;RYR3_HUMAN	W	643	ENSP00000373884:R643W;ENSP00000399610:R643W	ENSP00000354735:R643W	R	+	1	2	RYR3	31682620	1.000000	0.71417	0.989000	0.46669	0.635000	0.38103	4.255000	0.58804	1.453000	0.47775	0.644000	0.83932	CGG	RYR3	-	pfscan_B30.2/SPRY	ENSG00000198838		0.512	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	38	0	C			33895328	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	T	T	33895328	C	T	33895328	3	4	4	1	0	0	0	0	1	0	0	0	13815	643	23	1	1997	1	RYR3	15	33895328	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	7935952	33895328	68636064	249	1160											
PGBD4	161779	genome.wustl.edu	37	chr15	34396476	34396476	+	Frame_Shift_Del	DEL	A	A	-																															gctttgaaatttaccacacgAaaaaaaattattaaataccg																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:34396476delA	ENST00000397766.2	+	1	2203	c.1744delA	c.(1744-1746)aaafs	p.K583fs	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	583										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTACCACACGAAAAAAAATTA	0.408																																																	0													85	75	79					15																	34396476		2201	4298	6499	SO:0001589	frameshift_variant	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1744delA	15.37:g.34396476delA	ENSP00000380872:p.Lys583fs		A1L487|A8K0C6|Q8N9E8	Frame_Shift_Del	DEL	NULL	p.N584fs	ENST00000397766.2	37	c.1744	CCDS10033.1	15																																																																																			PGBD4	-	NULL	ENSG00000182405		0.408	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1		0	25	0	A			34396476	1	tier1		no_errors	ENST00000397766	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.177	-	-	34396476	A	-	34396476	7	5	4	1	0	1	0	1	0	0	0	0	11822	247	9	0	1746	0	PGBD4	15	34396476	Frame_Shift_Del	DEL	A	TCGA-2H-A9GI-01A-11D-A37C-09	501148	34396476	68134916	250	1161											
MGA	23269	genome.wustl.edu	37	chr15	42042674	42042674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagcaagagaagaagggtgGgagaagcagtgctgacttca	16	5	15	5	0	1	4	1	1	0	3	1	6	1	4	0	2	3	3	0	2	5	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:42042674G>C	ENST00000570161.1	+	16	6869	c.6869G>C	c.(6868-6870)gGg>gCg	p.G2290A	MGA_ENST00000219905.7_Missense_Mutation_p.G2290A|MGA_ENST00000566586.1_Missense_Mutation_p.G2081A|MGA_ENST00000545763.1_Missense_Mutation_p.G2081A|MGA_ENST00000389936.4_Missense_Mutation_p.G2251A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAGAAGGGTGGGAGAAGCAGT	0.418																																																	0													99	93	95					15																	42042674		1925	4133	6058	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6869G>C	15.37:g.42042674G>C	ENSP00000457035:p.Gly2290Ala		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.G2290A	ENST00000570161.1	37	c.6869	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	8.793	0.930961	0.18131	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.83755	-1.74;-1.76;-1.76	5.11	5.11	0.69529	.	1.120150	0.06779	N	0.784991	T	0.75406	0.3845	N	0.24115	0.695	0.21256	N	0.999746	B;B;B;B	0.28055	0.147;0.143;0.199;0.189	B;B;B;B	0.32289	0.068;0.143;0.097;0.058	T	0.63808	-0.6553	10	0.66056	D	0.02	.	7.2535	0.26162	0.0887:0.1716:0.7396:0.0	.	906;2081;2290;2251	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	A	2290;2251;2081	ENSP00000219905:G2290A;ENSP00000374586:G2251A;ENSP00000442467:G2081A	ENSP00000219905:G2290A	G	+	2	0	MGA	39829966	0.598000	0.26882	0.997000	0.53966	0.542000	0.35054	1.182000	0.32029	2.651000	0.90000	0.591000	0.81541	GGG	MGA	-	NULL	ENSG00000174197		0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0	30	0	G	NM_001164273.1		42042674	1			no_errors	ENST00000219905	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.925	C	C	42042674	G	C	42042674	3	2	4	1	0	0	0	0	1	0	0	0	9578	1232	43	5	6931	5	MGA	15	42042674	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	7646198	42042674	60488718	251	1162											
EHD4	30844	genome.wustl.edu	37	chr15	42192879	42192879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggacttcctgtgcgagggGggcacgaggtgggggggcag	6	5	23	7	2	0	0	0	0	0	0	1	3	1	1	1	8	1	2	1	8	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:42192879G>A	ENST00000220325.4	-	6	1673	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	530	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TGTGCGAGGGGGGCACGAGGT	0.667																																																	0													20	20	20					15																	42192879		2200	4293	6493	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1590C>T	15.37:g.42192879G>A			Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.P530	ENST00000220325.4	37	c.1590	CCDS10081.1	15																																																																																			EHD4	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000103966		0.667	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	-	0	59	0	G	NM_139265		42192879	-1	tier1	-	no_errors	ENST00000220325	ensembl	human	known	74_37	silent	54.72	24	29	SNP	0.886	A	A	42192879	G	A	42192879	2	1	4	1	0	0	0	0	0	0	0	1	4994	1219	43	3		3	EHD4	15	42192879	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	150205	42192879	60338513	252	1163											
PLA2G4D	283748	genome.wustl.edu	37	chr15	42377325	42377325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtgatgaggttttctGggcgatctgacctggaaaaa	9	13	14	5	1	2	3	0	3	2	0	2	5	2	4	1	4	0	2	1	4	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:42377325G>T	ENST00000290472.3	-	6	534	c.440C>A	c.(439-441)cCa>cAa	p.P147Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	147					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GAGGTTTTCTGGGCGATCTGA	0.587																																																	0													132	121	125					15																	42377325		2203	4299	6502	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.440C>A	15.37:g.42377325G>T	ENSP00000290472:p.Pro147Gln		Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.P147Q	ENST00000290472.3	37	c.440	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232210	0.79688	.	.	ENSG00000159337	ENST00000290472	T	0.01246	5.11	4.9	4.9	0.64082	.	0.121669	0.37437	N	0.002096	T	0.08223	0.0205	M	0.79258	2.445	0.38979	D	0.958916	D	0.76494	0.999	D	0.70227	0.968	T	0.01858	-1.1259	10	0.66056	D	0.02	-5.4134	14.8061	0.69956	0.0:0.0:1.0:0.0	.	147	Q86XP0	PA24D_HUMAN	Q	147	ENSP00000290472:P147Q	ENSP00000290472:P147Q	P	-	2	0	PLA2G4D	40164617	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	5.365000	0.66116	2.274000	0.75844	0.561000	0.74099	CCA	PLA2G4D	-	NULL	ENSG00000159337		0.587	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1		0	35	0	G	NM_178034		42377325	-1			no_errors	ENST00000290472	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.976	T	T	42377325	G	T	42377325	3	4	4	1	0	0	0	0	1	0	0	0	12043	1348	47	3	2076	3	PLA2G4D	15	42377325	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	184446	42377325	60154067	253	1164											
PIAS1	8554	genome.wustl.edu	37	chr15	68434296	68434296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttagcatcagacaacaGtcagcgctttcgagaaacct	12	11	7	11	2	3	2	2	0	1	2	4	3	3	2	1	0	4	2	1	0	3	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:68434296G>T	ENST00000249636.6	+	3	630	c.482G>T	c.(481-483)aGt>aTt	p.S161I	PIAS1_ENST00000545237.1_Missense_Mutation_p.S163I	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	161	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TCAGACAACAGTCAGCGCTTT	0.358																																																	0													64	60	62					15																	68434296		1877	4116	5993	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.482G>T	15.37:g.68434296G>T	ENSP00000249636:p.Ser161Ile		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.S161I	ENST00000249636.6	37	c.482	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725230	0.48833	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.44083	0.93;0.93	5.63	5.63	0.86233	PINIT domain (1);	0.036438	0.85682	D	0.000000	T	0.52058	0.1711	L	0.38531	1.155	0.80722	D	1	D;P	0.55605	0.972;0.594	P;B	0.59825	0.864;0.261	T	0.31916	-0.9926	10	0.23891	T	0.37	-12.0775	19.679	0.95950	0.0:0.0:1.0:0.0	.	161;161	C5J4B4;O75925	.;PIAS1_HUMAN	I	161;163	ENSP00000249636:S161I;ENSP00000438574:S163I	ENSP00000249636:S161I	S	+	2	0	PIAS1	66221350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.243000	0.72384	2.641000	0.89580	0.585000	0.79938	AGT	PIAS1	-	NULL	ENSG00000033800		0.358	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2	-	0	59	0	G			68434296	1	tier1	-	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	68434296	G	T	68434296	3	4	4	1	0	0	0	0	1	0	0	0	11914	1029	36	3	492	3	PIAS1	15	68434296	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	26056971	68434296	34097096	254	1165											
ANP32A	8125	genome.wustl.edu	37	chr15	69080148	69080148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtaagtttgcgattgaGgtgaggcctacgttgattgt	7	16	14	4	2	0	3	0	3	0	0	0	4	0	3	1	3	2	3	1	3	2	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:69080148G>A	ENST00000465139.2	-	2	308	c.165C>T	c.(163-165)acC>acT	p.T55T	ANP32A_ENST00000560303.1_Silent_p.T55T|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	55					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TTGCGATTGAGGTGAGGCCTA	0.458																																																	0													140	141	140					15																	69080148		2200	4298	6498	SO:0001819	synonymous_variant	0			AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"ANP32 acidic nuclear phosphoproteins"	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.165C>T	15.37:g.69080148G>A			B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Silent	SNP	pfam_Leu-rich_rpt,smart_U2A'_phosphoprotein32A_C	p.T55	ENST00000465139.2	37	c.165	CCDS45292.1	15																																																																																			ANP32A	-	NULL	ENSG00000140350		0.458	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32A	HGNC	protein_coding	OTTHUMT00000335525.2	-	0	81	0	G			69080148	-1	tier1	-	no_errors	ENST00000465139	ensembl	human	known	74_37	silent	16.67	65	13	SNP	1.000	A	A	69080148	G	A	69080148	2	1	4	1	0	0	0	0	0	0	0	1	705	987	35	3		3	ANP32A	15	69080148	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	645852	69080148	33451244	255	1166											
ULK3	25989	genome.wustl.edu	37	chr15	75134697	75134697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgtgaggaggttctccAccgatgccttgttcagactt	6	13	10	12	2	3	2	1	1	2	1	5	4	3	3	4	2	1	2	4	2	0	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:75134697A>G	ENST00000440863.2	-	2	258	c.167T>C	c.(166-168)gTg>gCg	p.V56A	ULK3_ENST00000568667.1_Missense_Mutation_p.V67A|ULK3_ENST00000569437.1_Missense_Mutation_p.V56A	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						GAGGTTCTCCACCGATGCCTT	0.542																																																	0													207	206	206					15																	75134697		2017	4170	6187	SO:0001583	missense	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.167T>C	15.37:g.75134697A>G	ENSP00000400312:p.Val56Ala		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom	p.V56A	ENST00000440863.2	37	c.167	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833116	0.50951	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.63580	-0.05	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.125415	0.53938	D	0.000041	T	0.47078	0.1426	N	0.20483	0.58	0.40923	D	0.984324	B;B;B	0.29232	0.238;0.03;0.228	B;B;B	0.27380	0.079;0.038;0.078	T	0.45745	-0.9240	10	0.29301	T	0.29	-14.4488	14.4989	0.67707	1.0:0.0:0.0:0.0	.	67;56;56	B4DFT0;Q6PHR2;Q6PHR2-3	.;ULK3_HUMAN;.	A	56;67	ENSP00000400312:V56A	ENSP00000393658:V67A	V	-	2	0	ULK3	72921750	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.075000	0.64407	2.020000	0.59435	0.533000	0.62120	GTG	ULK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140474		0.542	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4	-	0	47	0	A	NM_015518		75134697	-1	tier1	-	no_errors	ENST00000440863	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	G	G	75134697	A	G	75134697	3	3	4	1	0	0	0	0	1	0	0	0	17026	159	6	4	1311	4	ULK3	15	75134697	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	6054549	75134697	27396695	256	1167											
SIN3A	25942	genome.wustl.edu	37	chr15	75705182	75705182	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgaaggctgggaaggAtgttggggtggtggttgagg	6	10	23	2	0	0	2	0	2	0	0	0	4	0	4	0	9	0	4	0	9	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:75705182A>G	ENST00000394947.3	-	5	992	c.678T>C	c.(676-678)caT>caC	p.H226H	SIN3A_ENST00000394949.4_Silent_p.H226H|SIN3A_ENST00000360439.4_Silent_p.H226H	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						gctgggaaggatgttggggtg	0.572																																																	0													149	122	131					15																	75705182		2197	4294	6491	SO:0001819	synonymous_variant	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.678T>C	15.37:g.75705182A>G				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.H226	ENST00000394947.3	37	c.678	CCDS10279.1	15																																																																																			SIN3A	-	NULL	ENSG00000169375		0.572	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	-	0	59	0	A	NM_015477		75705182	-1	tier1	-	no_errors	ENST00000360439	ensembl	human	known	74_37	silent	17.50	66	14	SNP	1.000	G	G	75705182	A	G	75705182	2	3	4	1	0	0	0	0	0	0	0	1	14370	330	12	4		4	SIN3A	15	75705182	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	570485	75705182	26826210	257	1168											
SNX33	257364	genome.wustl.edu	37	chr15	75942122	75942122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccccagtggaaggccaatCcccacccatttgcctgctct	7	8	8	18	0	1	0	0	0	1	0	2	1	2	1	7	2	2	1	7	2	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:75942122C>T	ENST00000308527.5	+	1	1876	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	IMP3_ENST00000565349.1_5'Flank|IMP3_ENST00000314852.2_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	227					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GAAGGCCAATCCCCACCCATT	0.552																																																	0													120	111	114					15																	75942122		2197	4294	6491	SO:0001583	missense	0			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.679C>T	15.37:g.75942122C>T	ENSP00000311427:p.Pro227Ser		B1NM17	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.P227S	ENST00000308527.5	37	c.679	CCDS10283.1	15	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116207	0.37339	.	.	ENSG00000173548	ENST00000308527	T	0.27720	1.65	4.88	4.88	0.63580	Phox homologous domain (3);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.22421	0.69	0.80722	D	1	P	0.45474	0.859	P	0.55667	0.781	T	0.06570	-1.0819	10	0.36615	T	0.2	-8.8081	16.7787	0.85558	0.0:1.0:0.0:0.0	.	227	Q8WV41	SNX33_HUMAN	S	227	ENSP00000311427:P227S	ENSP00000311427:P227S	P	+	1	0	SNX33	73729177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.650000	0.83521	2.538000	0.85594	0.555000	0.69702	CCC	SNX33	-	superfamily_Phox,smart_Phox,pirsf_Snx9	ENSG00000173548		0.552	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX33	HGNC	protein_coding	OTTHUMT00000286471.1	-	0	68	0	C	NM_153271		75942122	1	tier1	-	no_errors	ENST00000308527	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	T	T	75942122	C	T	75942122	3	4	4	1	0	0	0	0	1	0	0	0	14948	855	30	3	681	3	SNX33	15	75942122	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	236940	75942122	26589270	258	1169											
IREB2	3658	genome.wustl.edu	37	chr15	78783102	78783102	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtatttgacaaacagaGggtatgtgtacatggcttta	13	13	10	5	0	0	2	0	1	0	1	0	2	0	2	0	2	2	4	0	2	6	7	rs372294150		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:78783102G>T	ENST00000258886.8	+	18	2472	c.2323G>T	c.(2323-2325)Ggc>Tgc	p.G775C		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	775					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GACAAACAGAGGGTATGTGTA	0.373																																					NSCLC(200;764 2208 35157 49871 50830)												0													203	209	207					15																	78783102		2196	4293	6489	SO:0001630	splice_region_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2324+1G>T	15.37:g.78783102G>T			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.G775C	ENST00000258886.8	37	c.2323	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995454	0.74703	.	.	ENSG00000136381	ENST00000258886	T	0.23552	1.9	6.07	6.07	0.98685	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.138028	0.64402	D	0.000002	T	0.56485	0.1988	H	0.94385	3.53	0.80722	D	1	D	0.61080	0.989	P	0.56563	0.801	T	0.67883	-0.5555	10	0.87932	D	0	.	13.7973	0.63180	0.0697:0.0:0.9303:0.0	.	775	P48200	IREB2_HUMAN	C	775	ENSP00000258886:G775C	ENSP00000258886:G775C	G	+	1	0	IREB2	76570157	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.440000	0.59975	2.885000	0.99019	0.650000	0.86243	GGC	IREB2	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.373	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0	48	0	G	NM_004136	Missense_Mutation	78783102	1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	78783102	G	T	78783102	5	4	4	1	0	0	0	0	0	0	1	0	7853	1014	35	3	2393	3	IREB2	15	78783102	Splice_Site	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	2840980	78783102	23748290	259	1170											
FAH	2184	genome.wustl.edu	37	chr15	80464492	80464493	+	Splice_Site	INS	-	-	T																															aactctcccccatgtaaggcINStttttttgtaggccctggaa																								rs76497285		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:80464492_80464493insT	ENST00000407106.1	+	9	763_764	c.608_609insT	c.(607-612)gctttt>gcTtttt	p.AF203fs	FAH_ENST00000539156.1_Splice_Site_p.AF133fs|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Splice_Site_p.AF203fs|FAH_ENST00000261755.5_Splice_Site_p.AF203fs			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	203					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGTAAGGCTTTTTTTGTAG	0.495									Tyrosinemia, type 1																																								0																																										SO:0001630	splice_region_variant	0	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.607-1->T	15.37:g.80464499_80464499dupT			B2R9X1|D3DW95|Q53XA7	Frame_Shift_Ins	INS	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.V206fs	ENST00000407106.1	37	c.608_609	CCDS10314.1	15																																																																																			FAH	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase	ENSG00000103876		0.495	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2		0	59	0	-		Frame_Shift_Ins	80464493	1	tier1		no_errors	ENST00000261755	ensembl	human	known	74_37	frame_shift_ins	29.79	33	14	INS	1.000:1.000	T	T	80464493	-	T	80464492	8	5	4	1	0	1	1	0	0	0	1	0	5390	811	28	0	638	0	FAH	15	80464492	Splice_Site	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	1681390	80464492	22066900	260	1171											
ALPK3	57538	genome.wustl.edu	37	chr15	85401174	85401174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcctggtcccagctccCtcactgtccctgccattgtg	3	11	11	16	0	1	0	1	0	0	0	5	0	5	0	5	3	2	1	5	3	0	1	rs569892880		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:85401174C>T	ENST00000258888.5	+	6	3978	c.3811C>T	c.(3811-3813)Ctc>Ttc	p.L1271F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1271					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCCCAGCTCCCTCACTGTCCC	0.687																																																	0													17	14	15					15																	85401174		2196	4282	6478	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3811C>T	15.37:g.85401174C>T	ENSP00000258888:p.Leu1271Phe		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.L1271F	ENST00000258888.5	37	c.3811	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216802	0.39201	.	.	ENSG00000136383	ENST00000258888	T	0.70282	-0.47	5.42	4.48	0.54585	.	0.437381	0.20579	N	0.089574	T	0.74772	0.3760	L	0.36672	1.1	0.25494	N	0.987616	D	0.76494	0.999	D	0.63597	0.916	T	0.67067	-0.5764	10	0.62326	D	0.03	-7.6528	12.0347	0.53418	0.0:0.826:0.174:0.0	.	1271	Q96L96	ALPK3_HUMAN	F	1271	ENSP00000258888:L1271F	ENSP00000258888:L1271F	L	+	1	0	ALPK3	83202178	0.793000	0.28825	0.557000	0.28306	0.097000	0.18754	3.341000	0.52151	1.243000	0.43853	0.563000	0.77884	CTC	ALPK3	-	NULL	ENSG00000136383		0.687	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	104	0	C	NM_020778		85401174	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	13.33	65	10	SNP	0.677	T	T	85401174	C	T	85401174	3	4	4	1	0	0	0	0	1	0	0	0	546	681	24	3	3833	3	ALPK3	15	85401174	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	4936682	85401174	17130218	261	1172											
MFGE8	4240	genome.wustl.edu	37	chr15	89442676	89442676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcggttgtgccaggctaCaggcaggatgcgcacatagc	9	7	15	10	2	0	0	0	0	0	0	0	2	0	1	1	4	5	4	1	4	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:89442676C>T	ENST00000566497.1	-	8	1175	c.1114G>A	c.(1114-1116)Gta>Ata	p.V372I	MFGE8_ENST00000542878.1_Missense_Mutation_p.V328I|MFGE8_ENST00000268150.8_Missense_Mutation_p.V372I|MFGE8_ENST00000539437.1_Missense_Mutation_p.V364I|MFGE8_ENST00000268151.7_Missense_Mutation_p.V320I			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	372	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					TGCCAGGCTACAGGCAGGATG	0.617																																																	0													168	147	154					15																	89442676		2200	4299	6499	SO:0001583	missense	0			U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"sperm surface protein hP47"	602281	"sperm associated antigen 10"	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.1114G>A	15.37:g.89442676C>T	ENSP00000456281:p.Val372Ile		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.V372I	ENST00000566497.1	37	c.1114	CCDS10347.1	15	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332675	0.24167	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437;ENST00000542878	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	5.03	3.11	0.35812	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.642064	0.17056	N	0.188745	D	0.95859	0.8652	L	0.51422	1.61	0.09310	N	1	B;P;P;P;P	0.42203	0.216;0.769;0.773;0.637;0.585	B;B;B;B;B	0.42188	0.122;0.379;0.263;0.255;0.35	D	0.90249	0.4292	10	0.20519	T	0.43	-10.1989	7.9176	0.29827	0.0:0.6053:0.3097:0.085	.	364;328;364;320;372	B3KTQ2;F5GZN3;F5H7N9;Q08431-3;Q08431	.;.;.;.;MFGM_HUMAN	I	372;320;364;328	ENSP00000268150:V372I;ENSP00000268151:V320I;ENSP00000442386:V364I;ENSP00000444332:V328I	ENSP00000268150:V372I	V	-	1	0	MFGE8	87243680	0.178000	0.23122	0.316000	0.25252	0.083000	0.17756	2.297000	0.43593	1.109000	0.41680	0.555000	0.69702	GTA	MFGE8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000140545		0.617	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	MFGE8	HGNC	protein_coding	OTTHUMT00000432804.1		0	77	0	C	NM_005928		89442676	-1			no_errors	ENST00000268150	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.172	T	T	89442676	C	T	89442676	3	4	4	1	0	0	0	0	1	0	0	0	9558	478	17	3	53	3	MFGE8	15	89442676	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	4041502	89442676	13088716	262	1173											
IQGAP1	8826	genome.wustl.edu	37	chr15	91019911	91019911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggatgtggtttcccacaGtaaaaaacttaccaaaaaaa	19	9	6	7	0	0	0	0	0	0	0	1	1	1	1	2	2	2	2	2	2	8	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:91019911G>A	ENST00000268182.5	+	24	2925	c.2801G>A	c.(2800-2802)aGt>aAt	p.S934N	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S362N	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	934					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTTCCCACAGTAAAAAACTT	0.373																																																	0													90	104	99					15																	91019911		2197	4298	6495	SO:0001583	missense	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2801G>A	15.37:g.91019911G>A	ENSP00000268182:p.Ser934Asn		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.S934N	ENST00000268182.5	37	c.2801	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422252	0.25639	.	.	ENSG00000140575	ENST00000268182	T	0.02197	4.4	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.01765	0.0056	N	0.05259	-0.085	0.80722	D	1	B	0.14805	0.011	B	0.15484	0.013	T	0.62950	-0.6745	10	0.15066	T	0.55	-19.9186	18.6103	0.91283	0.0:0.0:1.0:0.0	.	934	P46940	IQGA1_HUMAN	N	934	ENSP00000268182:S934N	ENSP00000268182:S934N	S	+	2	0	IQGAP1	88820915	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.725000	0.98778	2.639000	0.89480	0.655000	0.94253	AGT	IQGAP1	-	NULL	ENSG00000140575		0.373	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1		0	104	0	G	NM_003870		91019911	1			no_errors	ENST00000268182	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	A	A	91019911	G	A	91019911	3	1	4	1	0	0	0	0	1	0	0	0	7841	1029	36	3	2895	3	IQGAP1	15	91019911	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	1577235	91019911	11511481	263	1174											
LASS3	204219	genome.wustl.edu	37	chr15	100996237	100996237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacataggcaagatcagcGtgcaatataaaatcctgaaa	18	8	8	7	1	1	2	1	1	0	1	2	3	2	2	1	1	3	2	1	1	8	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr15:100996237G>A	ENST00000394113.1	-	13	1550	c.860C>T	c.(859-861)aCg>aTg	p.T287M	CERS3_ENST00000538112.2_Missense_Mutation_p.T287M|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000284382.4_Missense_Mutation_p.T287M			Q8IU89	CERS3_HUMAN	ceramide synthase 3	287	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)	p.T287M(1)									CAAGATCAGCGTGCAATATAA	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											82	76	78					15																	100996237		2203	4300	6503	SO:0001583	missense	0				CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"Homeoboxes / CERS class"	23752	protein-coding gene	gene with protein product		615276	"LAG1 longevity assurance homolog 3 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 3"	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.860C>T	15.37:g.100996237G>A	ENSP00000377672:p.Thr287Met		Q8NE64|Q8NEN6	Missense_Mutation	SNP	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom	p.T287M	ENST00000394113.1	37	c.860	CCDS10384.1	15	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667684	0.47677	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	D;D	0.85258	-1.96;-1.96	5.66	5.66	0.87406	TRAM/LAG1/CLN8 homology domain (3);	0.223476	0.45126	D	0.000389	D	0.93713	0.7991	M	0.91920	3.255	0.58432	D	0.999997	D	0.89917	1.0	D	0.75484	0.986	D	0.94651	0.7839	10	0.87932	D	0	-16.0042	15.244	0.73493	0.0:0.0:1.0:0.0	.	287	Q8IU89	CERS3_HUMAN	M	287;298;287	ENSP00000284382:T287M;ENSP00000437640:T287M	ENSP00000284382:T287M	T	-	2	0	CERS3	98813760	1.000000	0.71417	0.945000	0.38365	0.076000	0.17211	5.442000	0.66575	2.669000	0.90835	0.655000	0.94253	ACG	CERS3	-	pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000154227		0.368	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	CERS3	HGNC	protein_coding	OTTHUMT00000313594.4		0	42	0	G	NM_178842		100996237	-1			no_errors	ENST00000284382	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.992	A	A	100996237	G	A	100996237	3	1	4	1	0	0	0	0	1	0	0	0	8668	1145	40	1	299	1	LASS3	15	100996237	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	9976326	100996237	1535155	264	1175											
IGFALS	3483	genome.wustl.edu	37	chr16	1841564	1841564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccagcagaccggggaaCgtgtcctccaggaggccagc	9	3	15	14	2	0	1	0	0	0	1	2	3	2	3	5	5	3	1	5	5	1	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:1841564C>T	ENST00000215539.3	-	2	965	c.855G>A	c.(853-855)acG>acA	p.T285T	IGFALS_ENST00000415638.3_Silent_p.T323T			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	285					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						GACCGGGGAACGTGTCCTCCA	0.701																																																	0																																										SO:0001819	synonymous_variant	0			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.855G>A	16.37:g.1841564C>T			B4DZY8|E9PGU3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T323	ENST00000215539.3	37	c.969	CCDS10446.1	16																																																																																			IGFALS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000099769		0.701	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	HGNC	protein_coding	OTTHUMT00000250509.2		0	52	0	C			1841564	-1			no_errors	ENST00000415638	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T	T	1841564	C	T	1841564	2	4	4	1	0	0	0	0	0	0	0	1	7604	523	19	1		1	IGFALS	16	1841564	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09		1841564	88513189	265	1176											
NOXO1	124056	genome.wustl.edu	37	chr16	2031151	2031151	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaccagggctgccccttgCactgaaactgggtatcgggg	7	8	14	12	1	0	1	0	1	0	0	1	1	0	1	3	4	4	4	3	4	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:2031151C>A	ENST00000397280.4	-	1	33	c.30G>T	c.(28-30)gtG>gtT	p.V10V	NOXO1_ENST00000354249.4_Silent_p.V10V|NOXO1_ENST00000566005.1_Silent_p.V10V|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000356120.4_Silent_p.V10V|TBL3_ENST00000568546.1_3'UTR			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	10	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CTGCCCCTTGCACTGAAACTG	0.622																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0													65	70	69					16																	2031151		2198	4300	6498	SO:0001819	synonymous_variant	0			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.30G>T	16.37:g.2031151C>A			Q86YM1|Q8NFA3|Q96B73	Silent	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.V10	ENST00000397280.4	37	c.30	CCDS42101.1	16																																																																																			NOXO1	-	superfamily_Phox,pfscan_Phox	ENSG00000196408		0.622	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	-	0	115	0	C			2031151	-1	tier1	-	no_errors	ENST00000397280	ensembl	human	known	74_37	silent	19.32	71	17	SNP	0.003	A	A	2031151	C	A	2031151	2	1	4	1	0	0	0	0	0	0	0	1	10600	697	25	3		3	NOXO1	16	2031151	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	189587	2031151	88323602	266	1177											
ABCA3	21	genome.wustl.edu	37	chr16	2336799	2336799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttgaacagaaggttGtccacgacggccagggcagt	11	6	14	10	2	0	2	0	1	0	1	1	3	1	2	2	3	3	4	2	3	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:2336799G>A	ENST00000301732.5	-	22	3874	c.3174C>T	c.(3172-3174)gaC>gaT	p.D1058D	ABCA3_ENST00000382381.3_Silent_p.D1000D	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1058					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ACAGAAGGTTGTCCACGACGG	0.622																																																	0													125	125	125					16																	2336799		2198	4300	6498	SO:0001819	synonymous_variant	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3174C>T	16.37:g.2336799G>A			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D1058	ENST00000301732.5	37	c.3174	CCDS10466.1	16																																																																																			ABCA3	-	NULL	ENSG00000167972		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2		0	69	0	G	NM_001089		2336799	-1			no_errors	ENST00000301732	ensembl	human	known	74_37	silent	5.26	71	4	SNP	1.000	A	A	2336799	G	A	2336799	2	1	4	1	0	0	0	0	0	0	0	1	33	1368	48	3		3	ABCA3	16	2336799	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	305648	2336799	88017954	267	1178											
BFAR	51283	genome.wustl.edu	37	chr16	14738314	14738314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaattttcttgccactgctgCtacgacatcctggttaaccc	8	13	7	13	1	1	0	0	0	1	0	2	2	2	0	3	1	5	3	3	1	3	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:14738314C>T	ENST00000261658.2	+	2	388	c.111C>T	c.(109-111)tgC>tgT	p.C37C	BFAR_ENST00000563971.1_Silent_p.C37C|BFAR_ENST00000426842.2_5'UTR|RNU7-125P_ENST00000458760.1_RNA	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	37					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						GCCACTGCTGCTACGACATCC	0.478																																																	0													156	148	151					16																	14738314		2197	4300	6497	SO:0001819	synonymous_variant	0			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"RING-type (C3HC4) zinc fingers", "Sterile alpha motif (SAM) domain containing"	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.111C>T	16.37:g.14738314C>T			A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.C37	ENST00000261658.2	37	c.111	CCDS10554.1	16																																																																																			BFAR	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000103429		0.478	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	-	0	72	0	C	NM_016561		14738314	1	tier1	-	no_errors	ENST00000261658	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T	T	14738314	C	T	14738314	2	4	4	1	0	0	0	0	0	0	0	1	1416	805	28	3		3	BFAR	16	14738314	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	12401515	14738314	75616439	268	1179											
SYT17	51760	genome.wustl.edu	37	chr16	19195254	19195254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaactcaaagcagaccGgggtcaaacgcaagacccag	17	2	11	11	2	2	4	2	0	0	4	2	4	2	4	2	2	3	2	2	2	5	0	rs144009523	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:19195254G>T	ENST00000355377.2	+	5	1134	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W	SYT17_ENST00000568115.1_Missense_Mutation_p.G185W|SYT17_ENST00000562711.2_Missense_Mutation_p.G242W|SYT17_ENST00000562034.1_Missense_Mutation_p.G185W	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	246	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AAAGCAGACCGGGGTCAAACG	0.607																																																	0													122	113	117					16																	19195254		2197	4300	6497	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.736G>T	16.37:g.19195254G>T	ENSP00000347538:p.Gly246Trp		O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.G246W	ENST00000355377.2	37	c.736	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	g	19.45	3.829487	0.71258	.	.	ENSG00000103528	ENST00000355377	T	0.69306	-0.39	5.65	5.65	0.86999	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000007	T	0.80999	0.4732	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.81951	-0.0698	10	0.87932	D	0	.	19.7405	0.96228	0.0:0.0:1.0:0.0	.	246;185	Q9BSW7;B4DJB2	SYT17_HUMAN;.	W	246	ENSP00000347538:G246W	ENSP00000347538:G246W	G	+	1	0	SYT17	19102755	0.999000	0.42202	0.283000	0.24790	0.752000	0.42762	3.768000	0.55295	2.661000	0.90470	0.558000	0.71614	GGG	SYT17	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000103528		0.607	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2		0	58	0	G	NM_016524		19195254	1			no_errors	ENST00000355377	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.650	T	T	19195254	G	T	19195254	3	4	4	1	0	0	0	0	1	0	0	0	15520	1116	39	2	754	2	SYT17	16	19195254	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4456940	19195254	71159499	269	1180											
CHP2	63928	genome.wustl.edu	37	chr16	23767039	23767039	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggcactggacaggaataAgaagggctacctgaggtgag	12	5	16	8	1	0	3	0	2	0	1	0	5	0	5	2	5	1	2	2	5	4	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:23767039A>C	ENST00000300113.2	+	2	548	c.125A>C	c.(124-126)aAg>aCg	p.K42T		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GACAGGAATAAGAAGGGCTAC	0.627																																																	0													58	64	62					16																	23767039		2197	4300	6497	SO:0001583	missense	0				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.125A>C	16.37:g.23767039A>C	ENSP00000300113:p.Lys42Thr		A8K2I8	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K42T	ENST00000300113.2	37	c.125	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	A	6.465	0.454010	0.12283	.	.	ENSG00000166869	ENST00000300113	T	0.70986	-0.53	4.48	3.39	0.38822	EF-hand-like domain (1);	0.621973	0.15245	N	0.272641	T	0.59514	0.2199	L	0.42245	1.32	0.09310	N	0.999999	B	0.09022	0.002	B	0.13407	0.009	T	0.50398	-0.8833	10	0.40728	T	0.16	-10.1216	6.821	0.23857	0.8934:0.0:0.1066:0.0	.	42	O43745	CHP2_HUMAN	T	42	ENSP00000300113:K42T	ENSP00000300113:K42T	K	+	2	0	AC130454.2	23674540	0.018000	0.18449	0.719000	0.30619	0.469000	0.32828	2.272000	0.43373	0.856000	0.35383	0.383000	0.25322	AAG	CHP2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000166869		0.627	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1	-	0	118	0	A	NM_022097		23767039	1	tier1	-	no_errors	ENST00000300113	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.306	C	C	23767039	A	C	23767039	3	2	4	1	0	0	0	0	1	0	0	0	3374	72	3	4	131	4	CHP2	16	23767039	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	4571785	23767039	66587714	270	1181											
ITGAD	3681	genome.wustl.edu	37	chr16	31408920	31408920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtctgcccttgcagtccGccctgaggccgtgaacatgt	5	10	12	14	3	1	2	0	2	1	0	2	2	2	2	4	1	3	1	4	1	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:31408920G>A	ENST00000389202.2	+	4	294	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	82					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R82H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTTGCAGTCCGCCCTGAGGCC	0.657																																																	1	Substitution - Missense(1)	lung(1)											47	39	42					16																	31408920		2197	4300	6497	SO:0001583	missense	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.245G>A	16.37:g.31408920G>A	ENSP00000373854:p.Arg82His		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R82H	ENST00000389202.2	37	c.245	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442436	0.25987	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.71461	-0.57	4.26	2.25	0.28309	.	.	.	.	.	T	0.47691	0.1459	N	0.03608	-0.345	0.09310	N	1	B;D;D	0.56968	0.144;0.978;0.96	B;B;B	0.43194	0.01;0.411;0.411	T	0.40590	-0.9555	9	0.72032	D	0.01	.	9.0258	0.36230	0.1558:0.5434:0.3007:0.0	.	82;98;82	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	H	98;82	ENSP00000373854:R82H	ENSP00000373854:R82H	R	+	2	0	ITGAD	31316421	0.002000	0.14202	0.014000	0.15608	0.002000	0.02628	1.197000	0.32211	0.183000	0.20059	-1.966000	0.00469	CGC	ITGAD	-	NULL	ENSG00000156886		0.657	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	-	0	102	0	G	NM_005353		31408920	1	tier1	-	no_errors	ENST00000389202	ensembl	human	known	74_37	missense	26.53	72	26	SNP	0.277	A	A	31408920	G	A	31408920	3	1	4	1	0	0	0	0	1	0	0	0	7911	1087	38	1	259	1	ITGAD	16	31408920	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	7641881	31408920	58945833	271	1182											
PHKB	5257	genome.wustl.edu	37	chr16	47730372	47730372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttgggaaatattgaccaGccacagtacagacagatcgt	14	8	10	9	2	0	3	0	1	0	2	1	4	0	4	2	1	2	2	2	1	3	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:47730372G>T	ENST00000323584.5	+	29	3000	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H	PHKB_ENST00000566044.1_Missense_Mutation_p.Q985H|PHKB_ENST00000299167.8_Missense_Mutation_p.Q992H|PHKB_ENST00000455779.1_Missense_Mutation_p.Q985H	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	992					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATATTGACCAGCCACAGTACA	0.403																																																	0													120	107	111					16																	47730372		2201	4300	6501	SO:0001583	missense	0				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2976G>T	16.37:g.47730372G>T	ENSP00000313504:p.Gln992His		Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Q992H	ENST00000323584.5	37	c.2976	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	9.331	1.060639	0.19987	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	T;T	0.69806	-0.43;-0.43	5.55	4.6	0.57074	.	0.275907	0.37095	N	0.002247	T	0.70631	0.3246	L	0.58669	1.825	0.51767	D	0.999936	B;B;P	0.37708	0.008;0.001;0.606	B;B;P	0.47528	0.01;0.011;0.549	T	0.68187	-0.5475	10	0.30854	T	0.27	-16.1073	14.3567	0.66742	0.071:0.0:0.929:0.0	.	233;992;985	B3KVX5;Q93100;Q93100-4	.;KPBB_HUMAN;.	H	985;985;992	ENSP00000414345:Q985H;ENSP00000313504:Q992H	ENSP00000299167:Q985H	Q	+	3	2	PHKB	46287873	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.222000	0.42926	1.368000	0.46115	-0.142000	0.14014	CAG	PHKB	-	NULL	ENSG00000102893		0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	-	0	48	0	G			47730372	1	tier1	-	no_errors	ENST00000299167	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	47730372	G	T	47730372	3	4	4	1	0	0	0	0	1	0	0	0	11884	962	34	3	3244	3	PHKB	16	47730372	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	16321452	47730372	42624381	272	1183											
SLC6A2	6530	genome.wustl.edu	37	chr16	55733505	55733505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacatccagcagatgatggGgttcaggccgggtctatact	9	9	13	10	2	2	2	1	1	1	1	3	3	3	2	2	4	2	2	2	4	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:55733505G>A	ENST00000379906.2	+	11	1784	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	SLC6A2_ENST00000568943.1_Missense_Mutation_p.G510E|SLC6A2_ENST00000219833.8_Missense_Mutation_p.G510E|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G405E|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G510E|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G465E|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G510E	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	510					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGATGATGGGGTTCAGGCCG	0.592																																																	0													219	157	178					16																	55733505		2198	4300	6498	SO:0001583	missense	0				CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"Solute carriers"	11048	protein-coding gene	gene with protein product	"norepinephrine transporter"	163970	"solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1529G>A	16.37:g.55733505G>A	ENSP00000369237:p.Gly510Glu		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline	p.G510E	ENST00000379906.2	37	c.1529	CCDS10754.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.123172	0.94429	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.80653	-1.4;-1.4;-1.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.999	D	0.91685	0.5361	10	0.87932	D	0	.	18.2862	0.90114	0.0:0.0:1.0:0.0	.	510;224;405;510	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	E	510;224;510;510	ENSP00000394956:G510E;ENSP00000369237:G510E;ENSP00000219833:G510E	ENSP00000219833:G510E	G	+	2	0	SLC6A2	54291006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.315000	0.96313	2.596000	0.87737	0.650000	0.86243	GGG	SLC6A2	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000103546		0.592	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A2	HGNC	protein_coding	OTTHUMT00000256922.2	-	0	92	0	G			55733505	1	tier1	-	no_errors	ENST00000219833	ensembl	human	known	74_37	missense	23.29	56	17	SNP	1.000	A	A	55733505	G	A	55733505	3	1	4	1	0	0	0	0	1	0	0	0	14728	1232	43	3	1662	3	SLC6A2	16	55733505	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	8003133	55733505	34621248	273	1184											
CES1	1066	genome.wustl.edu	37	chr16	55860155	55860155	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaatgttctcctttcGgtttgtaaatagctctgaga	10	14	11	6	1	2	2	0	1	2	2	4	5	2	3	1	2	1	4	1	2	4	5	rs5023780	byFrequency	TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:55860155G>A	ENST00000361503.4	-	3	440	c.310C>T	c.(310-312)Cga>Tga	p.R104*	CES1_ENST00000422046.2_Nonsense_Mutation_p.R104*|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Nonsense_Mutation_p.R105*			P23141	EST1_HUMAN	carboxylesterase 1	104					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TTCTCCTTTCGGTTTGTAAAT	0.488																																					NSCLC(162;1801 2756 42904 52896)												0								G	stop/ARG,stop/ARG,stop/ARG	0,4396		0,0,2198	137	160	152		310,313,310	-0.6	0	16	dbSNP_113	152	2,8598		0,2,4298	yes	stop-gained,stop-gained,stop-gained	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	,,	104/568,105/569,104/567	55860155	2,12994	2198	4300	6498	SO:0001587	stop_gained	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.310C>T	16.37:g.55860155G>A	ENSP00000355193:p.Arg104*		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R105*	ENST00000361503.4	37	c.313	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	18.48	3.632849	0.67015	0.0	2.33E-4	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	.	.	.	4.7	-0.61	0.11604	.	1.181780	0.06388	N	0.716421	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4125	0.11439	0.0:0.2167:0.3971:0.3862	rs5023780;rs5023780	.	.	.	X	105;104;104	.	ENSP00000353720:R105X	R	-	1	2	CES1	54417656	.	.	0.035000	0.18076	0.017000	0.09413	.	.	0.196000	0.20367	-0.755000	0.03482	CGA	CES1	-	pfam_CarbesteraseB	ENSG00000198848		0.488	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0	196	0	G	NM_001266		55860155	-1	tier1	rs5023780	no_errors	ENST00000360526	ensembl	human	known	74_37	nonsense	16.75	159	32	SNP	0.000	A	A	55860155	G	A	55860155	4	1	4	1	0	0	0	0	0	1	0	0	3276	1124	39	1	1441	1	CES1	16	55860155	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	126650	55860155	34494598	274	1185											
DYNC1LI2	1783	genome.wustl.edu	37	chr16	66761667	66761667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctggccctccccgaccCtgggtccttggagagccaga	5	7	13	16	1	0	2	0	0	0	2	2	4	2	2	6	4	1	1	6	4	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:66761667C>A	ENST00000258198.2	-	11	1391	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000570201.1_5'Flank|DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.Q318H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	395					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CTCCCCGACCCTGGGTCCTTG	0.493																																																	0													67	69	68					16																	66761667		2201	4300	6501	SO:0001583	missense	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1185G>T	16.37:g.66761667C>A	ENSP00000258198:p.Gln395His		A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.Q395H	ENST00000258198.2	37	c.1185	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	C	11.46	1.644494	0.29246	.	.	ENSG00000135720	ENST00000258198;ENST00000443351	T;T	0.18016	2.24;2.24	5.39	4.43	0.53597	.	0.226576	0.45361	D	0.000368	T	0.18215	0.0437	N	0.19112	0.55	0.80722	D	1	D;P	0.64830	0.994;0.913	P;P	0.57152	0.814;0.637	T	0.02844	-1.1103	10	0.66056	D	0.02	-22.8695	6.3071	0.21145	0.1503:0.6868:0.0:0.1629	.	318;395	B4DZP4;O43237	.;DC1L2_HUMAN	H	395;318	ENSP00000258198:Q395H;ENSP00000394289:Q318H	ENSP00000258198:Q395H	Q	-	3	2	DYNC1LI2	65319168	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	0.352000	0.20113	1.488000	0.48433	0.655000	0.94253	CAG	DYNC1LI2	-	pfam_Dynein_light_int_chain	ENSG00000135720		0.493	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	-	0	97	0	C	NM_006141		66761667	-1	tier1	-	no_errors	ENST00000258198	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	66761667	C	A	66761667	3	1	4	1	0	0	0	0	1	0	0	0	4859	680	24	3	305	3	DYNC1LI2	16	66761667	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	10901512	66761667	23593086	275	1186											
DUS2L	54920	genome.wustl.edu	37	chr16	68104087	68104087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctgtgaagtcatcaaagCcattgctgataccctctcca	11	10	7	13	0	3	2	2	2	1	0	4	2	3	2	3	0	4	2	3	0	3	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:68104087C>G	ENST00000565263.1	+	11	1099	c.605C>G	c.(604-606)gCc>gGc	p.A202G	DUS2_ENST00000358896.6_Missense_Mutation_p.A202G|DUS2_ENST00000432752.1_Missense_Mutation_p.A167G	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	202					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										GTCATCAAAGCCATTGCTGAT	0.532																																																	0													262	195	218					16																	68104087		2198	4300	6498	SO:0001583	missense	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.605C>G	16.37:g.68104087C>G	ENSP00000455229:p.Ala202Gly		A8K3G3|Q4H4D9	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	p.A202G	ENST00000565263.1	37	c.605	CCDS10859.1	16	.	.	.	.	.	.	.	.	.	.	C	30	5.055112	0.93793	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.32272	1.46;1.46	5.51	5.51	0.81932	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.84156	2.68	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.60012	0.867;0.811	T	0.54153	-0.8336	10	0.38643	T	0.18	-3.4561	17.3853	0.87414	0.0:1.0:0.0:0.0	.	167;202	E7EUN9;Q9NX74	.;DUS2L_HUMAN	G	202;167	ENSP00000351769:A202G;ENSP00000409498:A167G	ENSP00000351769:A202G	A	+	2	0	DUS2L	66661588	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.806000	0.75195	2.873000	0.98535	0.561000	0.74099	GCC	DUS2	-	pfam_tRNA_hU_synthase	ENSG00000167264		0.532	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2	HGNC	protein_coding	OTTHUMT00000268869.2	-	0	80	0	C	NM_017803		68104087	1	tier1	-	no_errors	ENST00000358896	ensembl	human	known	74_37	missense	15.62	54	10	SNP	1.000	G	G	68104087	C	G	68104087	3	3	4	1	0	0	0	0	1	0	0	0	4820	739	26	5	639	5	DUS2L	16	68104087	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1342420	68104087	22250666	276	1187											
SMPD3	55512	genome.wustl.edu	37	chr16	68405587	68405587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcgatgtaaattttgatCtggggccgggcggccccatt	7	11	14	9	3	1	1	0	1	1	0	2	3	1	1	3	4	0	1	3	4	2	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:68405587C>T	ENST00000219334.5	-	3	1101	c.498G>A	c.(496-498)caG>caA	p.Q166Q	SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Silent_p.Q166Q|SMPD3_ENST00000563226.1_Silent_p.Q166Q	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	166					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AAATTTTGATCTGGGGCCGGG	0.632																																																	0													33	40	38					16																	68405587		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.498G>A	16.37:g.68405587C>T			B7ZL82|Q2M1S8	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.Q166	ENST00000219334.5	37	c.498	CCDS10867.1	16																																																																																			SMPD3	-	NULL	ENSG00000103056		0.632	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3		0	53	0	C	NM_018667		68405587	-1			no_errors	ENST00000219334	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T	T	68405587	C	T	68405587	2	4	4	1	0	0	0	0	0	0	0	1	14851	912	32	3		3	SMPD3	16	68405587	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	301500	68405587	21949166	277	1188											
VAT1L	57687	genome.wustl.edu	37	chr16	77918635	77918635	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggagtggtggaaaaacTcatagggctctacaaccaga	13	7	13	8	1	2	1	1	0	1	1	3	3	2	3	1	5	3	1	1	5	5	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:77918635T>G	ENST00000302536.2	+	7	1166	c.1013T>G	c.(1012-1014)cTc>cGc	p.L338R		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	338							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTGGAAAAACTCATAGGGCTC	0.493																																																	0													48	50	49					16																	77918635		2198	4300	6498	SO:0001583	missense	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1013T>G	16.37:g.77918635T>G	ENSP00000303129:p.Leu338Arg		Q8IYW8	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.L338R	ENST00000302536.2	37	c.1013	CCDS32492.1	16	.	.	.	.	.	.	.	.	.	.	T	25.7	4.667981	0.88348	.	.	ENSG00000171724	ENST00000302536	T	0.11712	2.75	5.92	5.92	0.95590	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.66297	2.02	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.01757	-1.1280	10	0.87932	D	0	-3.0E-4	16.0209	0.80493	0.0:0.0:0.0:1.0	.	338	Q9HCJ6	VAT1L_HUMAN	R	338	ENSP00000303129:L338R	ENSP00000303129:L338R	L	+	2	0	VAT1L	76476136	1.000000	0.71417	0.951000	0.38953	0.968000	0.65278	7.698000	0.84413	2.266000	0.75297	0.455000	0.32223	CTC	VAT1L	-	smart_PKS_ER	ENSG00000171724		0.493	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0	80	0	T	NM_020927		77918635	1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	G	G	77918635	T	G	77918635	3	3	4	1	0	0	0	0	1	0	0	0	17179	1551	54	4	1039	4	VAT1L	16	77918635	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	9513048	77918635	12436118	278	1189											
CBFA2T3	863	genome.wustl.edu	37	chr16	88945691	88945691	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctacctcgctggagtccTcctgctggttgatgaccgtc	4	11	11	15	2	0	2	0	2	0	0	4	3	2	3	5	2	2	3	5	2	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr16:88945691T>G	ENST00000268679.4	-	11	2045	c.1649A>C	c.(1648-1650)gAg>gCg	p.E550A	RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E464A|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E512A|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E474A|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E464A|RP11-830F9.5_ENST00000569249.1_RNA	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	550					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTGGAGTCCTCCTGCTGGTT	0.697			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0													62	68	66					16																	88945691		2197	4299	6496	SO:0001583	missense	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1649A>C	16.37:g.88945691T>G	ENSP00000268679:p.Glu550Ala		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.E550A	ENST00000268679.4	37	c.1649	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	T	26.7	4.766921	0.90020	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.998;0.968	D;P	0.77004	0.989;0.888	T	0.72411	-0.4302	10	0.66056	D	0.02	-1.1553	14.1699	0.65503	0.0:0.0:0.0:1.0	.	550;464	O75081;O75081-2	MTG16_HUMAN;.	A	464;550;512;474;464	ENSP00000332122:E464A;ENSP00000268679:E550A;ENSP00000395739:E512A;ENSP00000401254:E474A;ENSP00000353449:E464A	ENSP00000268679:E550A	E	-	2	0	CBFA2T3	87473192	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.660000	0.83776	1.743000	0.51761	0.379000	0.24179	GAG	CBFA2T3	-	NULL	ENSG00000129993		0.697	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0	152	0	T	NM_005187		88945691	-1	tier1	-	no_errors	ENST00000268679	ensembl	human	known	74_37	missense	15.23	128	23	SNP	1.000	G	G	88945691	T	G	88945691	3	3	4	1	0	0	0	0	1	0	0	0	2705	1551	54	4	320	4	CBFA2T3	16	88945691	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	11027056	88945691	1409062	279	1190											
GEMIN4	50628	genome.wustl.edu	37	chr17	649797	649797	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatacctgcaaggactttatTtttacctggcagggagaggt	10	12	12	7	0	0	1	0	0	0	1	0	4	0	2	2	4	3	2	2	4	4	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:649797T>G	ENST00000319004.5	-	2	1604	c.1486A>C	c.(1486-1488)Aat>Cat	p.N496H	GEMIN4_ENST00000576778.1_Missense_Mutation_p.N485H	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	496					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGGACTTTATTTTTACCTGGC	0.527																																																	0													32	34	33					17																	649797		1918	4132	6050	SO:0001583	missense	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1486A>C	17.37:g.649797T>G	ENSP00000321706:p.Asn496His		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.N496H	ENST00000319004.5	37	c.1486	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	T	16.70	3.194734	0.58017	.	.	ENSG00000179409	ENST00000319004	T	0.15834	2.39	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.25676	-1.0125	10	0.87932	D	0	-16.4683	15.5859	0.76482	0.0:0.0:0.0:1.0	.	496	P57678	GEMI4_HUMAN	H	496	ENSP00000321706:N496H	ENSP00000321706:N496H	N	-	1	0	GEMIN4	596547	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	7.633000	0.83260	2.333000	0.79357	0.482000	0.46254	AAT	GEMIN4	-	NULL	ENSG00000179409		0.527	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1	-	0	55	0	T	NM_015721		649797	-1	tier1	-	no_errors	ENST00000319004	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	G	G	649797	T	G	649797	3	3	4	1	0	0	0	0	1	0	0	0	6356	1841	64	4	1694	4	GEMIN4	17	649797	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09		649797	80545413	280	1191											
MYBBP1A	10514	genome.wustl.edu	37	chr17	4457381	4457382	+	Frame_Shift_Ins	INS	-	-	TGAG																															tgcaaagagagcaggtctcaINSgcattgcctagaaaaggatt																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:4457381_4457382insTGAG	ENST00000254718.4	-	4	691_692	c.385_386insCTCA	c.(385-387)ctgfs	p.L129fs	MYBBP1A_ENST00000381556.2_Frame_Shift_Ins_p.L129fs			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	129	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGCAGGTCTCAGCATTGCCTAG	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"p53-activated protein-2"	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.385_386insCTCA	17.37:g.4457381_4457382insTGAG	ENSP00000254718:p.Leu129fs		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Frame_Shift_Ins	INS	pfam_DNA_pol_V,superfamily_ARM-type_fold	p.L129fs	ENST00000254718.4	37	c.386_385	CCDS11046.1	17																																																																																			MYBBP1A	-	pfam_DNA_pol_V,superfamily_ARM-type_fold	ENSG00000132382		0.594	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBBP1A	HGNC	protein_coding	OTTHUMT00000207488.2		0	40	0	-	NM_014520		4457382	-1	tier1		no_errors	ENST00000381556	ensembl	human	known	74_37	frame_shift_ins	8.70	21	2	INS	0.888:0.000	TGAG	TGAG	4457382	-	TGAG	4457381	7	5	4	1	0	1	1	0	0	0	0	0	10046	188	7	0	3732	0	MYBBP1A	17	4457381	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	3807584	4457381	76737829	281	1192											
DERL2	51009	genome.wustl.edu	37	chr17	5389414	5389414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcggtggtgaggacgcagGcagtggtgtaggcgcggctg	5	6	22	8	5	0	1	0	1	0	0	0	2	0	2	0	8	0	4	0	8	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:5389414G>C	ENST00000158771.4	-	1	123	c.68C>G	c.(67-69)gCc>gGc	p.A23G	DERL2_ENST00000571968.1_Intron|MIS12_ENST00000381165.3_5'Flank|DERL2_ENST00000572834.1_Missense_Mutation_p.A23G|DERL2_ENST00000570848.1_Missense_Mutation_p.A23G|MIS12_ENST00000573759.1_5'Flank	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	23					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|retrograde protein transport, ER to cytosol (GO:0030970)|suckling behavior (GO:0001967)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|late endosome (GO:0005770)|membrane (GO:0016020)				large_intestine(3)	3						GAGGACGCAGGCAGTGGTGTA	0.647																																																	0													47	43	44					17																	5389414		2196	4294	6490	SO:0001583	missense	0			BC010890	CCDS11073.1	17p13.2	2012-02-01	2012-02-01		ENSG00000072849	ENSG00000072849			17943	protein-coding gene	gene with protein product		610304	"Der1-like domain family, member 2"			10810093, 11500051	Standard	NM_016041		Approved	F-LAN-1, FLANa, F-LANa, CGI-101, derlin-2	uc002gcc.1	Q9GZP9	OTTHUMG00000102040	ENST00000158771.4:c.68C>G	17.37:g.5389414G>C	ENSP00000158771:p.Ala23Gly		Q9Y3A7	Missense_Mutation	SNP	pfam_DER1	p.A23G	ENST00000158771.4	37	c.68	CCDS11073.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.535956	0.96460	.	.	ENSG00000072849	ENST00000158771	T	0.12879	2.64	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.54863	1.705	0.80722	D	1	P	0.35944	0.529	B	0.44163	0.443	T	0.00237	-1.1890	10	0.32370	T	0.25	-0.0276	19.8676	0.96824	0.0:0.0:1.0:0.0	.	23	Q9GZP9	DERL2_HUMAN	G	23	ENSP00000158771:A23G	ENSP00000158771:A23G	A	-	2	0	DERL2	5330138	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.087000	0.94110	2.941000	0.99782	0.655000	0.94253	GCC	DERL2	-	pfam_DER1	ENSG00000072849		0.647	DERL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL2	HGNC	protein_coding	OTTHUMT00000219825.1	-	0	27	0	G	NM_016041		5389414	-1	tier1	-	no_errors	ENST00000158771	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	C	C	5389414	G	C	5389414	3	2	4	1	0	0	0	0	1	0	0	0	4461	1203	42	5	679	5	DERL2	17	5389414	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	932033	5389414	75805796	282	1193											
MYO15A	51168	genome.wustl.edu	37	chr17	18082098	18082098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagggactggaactgtgtCgtgtggtggccgtgcacgtg	5	10	18	8	3	0	0	0	0	0	0	1	2	0	2	1	4	3	2	1	4	1	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:18082098C>T	ENST00000205890.5	+	66	10845	c.10507C>T	c.(10507-10509)Cgt>Tgt	p.R3503C	MYO15A_ENST00000418233.3_Missense_Mutation_p.S784L|RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000451725.2_3'UTR|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3503	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAACTGTGTCGTGTGGTGGC	0.612																																																	0													126	140	135					17																	18082098		2157	4264	6421	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10507C>T	17.37:g.18082098C>T	ENSP00000205890:p.Arg3503Cys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R3503C	ENST00000205890.5	37	c.10507	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513221	0.44660	.	.	ENSG00000091536	ENST00000205890	D	0.89123	-2.47	5.58	5.58	0.84498	FERM domain (1);	.	.	.	.	D	0.94019	0.8084	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94267	0.7507	9	0.72032	D	0.01	.	14.0792	0.64909	0.1507:0.8493:0.0:0.0	.	3503	Q9UKN7	MYO15_HUMAN	C	3503	ENSP00000205890:R3503C	ENSP00000205890:R3503C	R	+	1	0	MYO15A	18022823	1.000000	0.71417	0.917000	0.36280	0.495000	0.33615	5.724000	0.68500	2.637000	0.89404	0.555000	0.69702	CGT	MYO15A	-	pfscan_FERM_domain	ENSG00000091536		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	42	0	C	NM_016239		18082098	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	18082098	C	T	18082098	3	4	4	1	0	0	0	0	1	0	0	0	10101	884	31	1	10761	1	MYO15A	17	18082098	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	12692684	18082098	63113112	283	1194											
MAPK7	5598	genome.wustl.edu	37	chr17	19283228	19283228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccatcaaggacatcctgagGcccaccgtgccctatggcga	9	6	11	15	2	1	1	1	1	0	0	2	3	2	2	5	3	1	0	5	3	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:19283228G>T	ENST00000308406.5	+	3	752	c.366G>T	c.(364-366)agG>agT	p.R122S	B9D1_ENST00000477478.2_5'Flank|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.R122S|MAPK7_ENST00000395604.3_Missense_Mutation_p.R122S|MAPK7_ENST00000299612.7_Intron|B9D1_ENST00000575403.1_5'Flank|B9D1_ENST00000468679.3_5'Flank	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Required for binding to MAP2K5. {ECO:0000250}.				cAMP-mediated signaling (GO:0019933)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to transforming growth factor beta stimulus (GO:0071560)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cAMP catabolic process (GO:0030821)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of response to cytokine stimulus (GO:0060761)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|regulation of angiogenesis (GO:0045765)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|mitogen-activated protein kinase binding (GO:0051019)			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACATCCTGAGGCCCACCGTGC	0.527																																																	0													105	88	94					17																	19283228		2203	4300	6503	SO:0001583	missense	0			U25278	CCDS11206.1, CCDS11207.1	17p11.2	2011-06-09			ENSG00000166484	ENSG00000166484	2.7.11.24	"Mitogen-activated protein kinase cascade / Kinases"	6880	protein-coding gene	gene with protein product	"BMK1 kinase", "extracellular-signal-regulated kinase 5"	602521		PRKM7		10072598, 7759517	Standard	NM_139032		Approved	BMK1, ERK5	uc002gvp.3	Q13164	OTTHUMG00000059587	ENST00000308406.5:c.366G>T	17.37:g.19283228G>T	ENSP00000311005:p.Arg122Ser		Q16634|Q59F50|Q6QLU7|Q7L4P4|Q969G1|Q96G51	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R122S	ENST00000308406.5	37	c.366	CCDS11206.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064266	0.55432	.	.	ENSG00000166484	ENST00000308406;ENST00000443215;ENST00000395604;ENST00000395602	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.18	3.21	0.36854	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172440	0.52532	D	0.000079	T	0.53012	0.1770	L	0.33093	0.98	0.38117	D	0.937758	B	0.27853	0.191	B	0.36719	0.231	T	0.56384	-0.7988	10	0.46703	T	0.11	-10.0641	9.9821	0.41819	0.1004:0.0:0.8996:0.0	.	122	Q13164	MK07_HUMAN	S	122	ENSP00000311005:R122S;ENSP00000412902:R122S;ENSP00000378968:R122S;ENSP00000378966:R122S	ENSP00000311005:R122S	R	+	3	2	MAPK7	19223821	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.359000	0.52292	1.117000	0.41842	-0.379000	0.06801	AGG	MAPK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000166484		0.527	MAPK7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK7	HGNC	protein_coding	OTTHUMT00000132506.1	-	0	50	0	G	NM_139033		19283228	1	tier1	-	no_errors	ENST00000308406	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	19283228	G	T	19283228	3	4	4	1	0	0	0	0	1	0	0	0	9320	1194	42	3	372	3	MAPK7	17	19283228	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	1201130	19283228	61911982	284	1195											
GAS2L2	246176	genome.wustl.edu	37	chr17	34074129	34074129	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggggcctcagccttcGgtctgaagaggtatatgtct	6	11	16	8	1	3	2	1	1	2	1	4	2	3	2	2	6	1	1	2	6	3	3	rs139340113		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:34074129G>A	ENST00000254466.6	-	5	1018	c.991C>T	c.(991-993)Cga>Tga	p.R331*	GAS2L2_ENST00000587565.1_Nonsense_Mutation_p.R315*	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	331					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCAGCCTTCGGTCTGAAGAG	0.632																																																	0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	56	61	59		991	4.1	1	17	dbSNP_134	59	0,8600		0,0,4300	yes	stop-gained	GAS2L2	NM_139285.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		331/881	34074129	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.991C>T	17.37:g.34074129G>A	ENSP00000254466:p.Arg331*		Q8NHY4	Nonsense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.R331*	ENST00000254466.6	37	c.991	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150553	0.78001	2.27E-4	0.0	ENSG00000132139	ENST00000254466	.	.	.	5.1	4.12	0.48240	.	0.280944	0.28754	N	0.014256	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.48	12.138	0.53982	0.0:0.0:0.8286:0.1714	.	.	.	.	X	331	.	ENSP00000254466:R331X	R	-	1	2	GAS2L2	31098242	0.991000	0.36638	0.993000	0.49108	0.210000	0.24377	1.778000	0.38614	1.348000	0.45733	0.561000	0.74099	CGA	GAS2L2	-	NULL	ENSG00000132139		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0	105	0	G	NM_139285		34074129	-1	tier1	rs139340113	no_errors	ENST00000254466	ensembl	human	known	74_37	nonsense	30.77	63	28	SNP	0.998	A	A	34074129	G	A	34074129	4	1	4	1	0	0	0	0	0	1	0	0	6272	1124	39	1	1659	1	GAS2L2	17	34074129	Nonsense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	14790901	34074129	47121081	285	1196											
CDK12	51755	genome.wustl.edu	37	chr17	37667841	37667841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctccagaactactgctagGagaggaacgttacacaccag	14	6	9	12	1	0	2	0	0	0	2	1	4	1	3	3	2	5	2	3	2	5	3	rs538308945		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:37667841G>T	ENST00000447079.4	+	8	2759	c.2726G>T	c.(2725-2727)gGa>gTa	p.G909V	CDK12_ENST00000430627.2_Missense_Mutation_p.G909V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	909	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTACTGCTAGGAGAGGAACGT	0.398			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													119	113	115					17																	37667841		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2726G>T	17.37:g.37667841G>T	ENSP00000398880:p.Gly909Val		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G909V	ENST00000447079.4	37	c.2726	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796347	0.70567	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.54479	0.57;0.57	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	D	0.000306	T	0.77665	0.4164	M	0.87328	2.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.81739	-0.0795	10	0.87932	D	0	-10.2641	19.1453	0.93463	0.0:0.0:1.0:0.0	.	908;909;909	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	V	909	ENSP00000407720:G909V;ENSP00000398880:G909V	ENSP00000407720:G909V	G	+	2	0	CDK12	34921367	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	9.686000	0.98664	2.597000	0.87782	0.555000	0.69702	GGA	CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0	53	0	G	NM_016507		37667841	1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	92.17	22	259	SNP	1.000	T	T	37667841	G	T	37667841	3	4	4	1	0	0	0	0	1	0	0	0	3135	1174	41	3	2756	3	CDK12	17	37667841	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	3593712	37667841	43527369	286	1197											
KRTAP9-4	85280	genome.wustl.edu	37	chr17	39406094	39406094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaccctgctgccagccctCctgctgtgtttccagctgct	4	11	8	18	0	0	0	0	0	0	0	2	0	2	0	5	0	6	5	5	0	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:39406094C>A	ENST00000334109.2	+	1	156	c.122C>A	c.(121-123)tCc>tAc	p.S41Y		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	41	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCTCCTGCTGTGTT	0.632																																																	0													50	35	40					17																	39406094		2200	4292	6492	SO:0001583	missense	0			AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"Keratin associated proteins"	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.122C>A	17.37:g.39406094C>A	ENSP00000334922:p.Ser41Tyr		Q0VAE3	Missense_Mutation	SNP	NULL	p.S41Y	ENST00000334109.2	37	c.122	CCDS11386.1	17	.	.	.	.	.	.	.	.	.	.	.	9.721	1.159769	0.21454	.	.	ENSG00000241595;ENSG00000198083	ENST00000334109;ENST00000431129	T	0.01258	5.09	2.62	-4.28	0.03732	.	.	.	.	.	T	0.02304	0.0071	M	0.66439	2.03	0.09310	N	1	P	0.50710	0.938	P	0.45856	0.495	T	0.19095	-1.0316	9	0.54805	T	0.06	.	6.764	0.23556	0.0:0.4995:0.2025:0.2979	.	41	Q9BYQ2	KRA94_HUMAN	Y	41	ENSP00000334922:S41Y	ENSP00000334922:S41Y	S	+	2	0	KRTAP9-4;KRTAP9-9	36659620	0.000000	0.05858	0.002000	0.10522	0.112000	0.19704	-0.357000	0.07651	-0.684000	0.05183	-0.723000	0.03601	TCC	KRTAP9-4	-	NULL	ENSG00000241595		0.632	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-4	HGNC	protein_coding	OTTHUMT00000257306.1	-	0	118	0	C			39406094	1	tier1	-	no_errors	ENST00000334109	ensembl	human	known	74_37	missense	5.49	1291	75	SNP	0.009	A	A	39406094	C	A	39406094	3	1	4	1	0	0	0	0	1	0	0	0	8603	855	30	3	124	3	KRTAP9-4	17	39406094	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1738253	39406094	41789116	287	1198											
AOC3	8639	genome.wustl.edu	37	chr17	41006518	41006518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctttgtccccatggctgtgCcctggagccctgagcaccag	5	10	11	15	0	1	1	0	1	1	0	2	2	2	2	5	2	3	2	5	2	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:41006518C>T	ENST00000308423.2	+	2	1814	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	AOC3_ENST00000591562.1_Missense_Mutation_p.P9S	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	552					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CATGGCTGTGCCCTGGAGCCC	0.662																																					NSCLC(3;192 220 10664 11501 16477)												0													51	46	47					17																	41006518		2203	4300	6503	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1654C>T	17.37:g.41006518C>T	ENSP00000312326:p.Pro552Ser		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.P552S	ENST00000308423.2	37	c.1654	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248361	0.80024	.	.	ENSG00000131471	ENST00000308423	T	0.03689	3.84	5.32	5.32	0.75619	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	M	0.82323	2.585	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.00565	-1.1668	10	0.54805	T	0.06	.	18.9826	0.92760	0.0:1.0:0.0:0.0	.	552	Q16853	AOC3_HUMAN	S	552	ENSP00000312326:P552S	ENSP00000312326:P552S	P	+	1	0	AOC3	38260044	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.677000	0.68142	2.500000	0.84329	0.563000	0.77884	CCC	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.662	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1		0	95	0	C	NM_003734		41006518	1			no_errors	ENST00000308423	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	41006518	C	T	41006518	3	4	4	1	0	0	0	0	1	0	0	0	728	739	26	3	1660	3	AOC3	17	41006518	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1600424	41006518	40188692	288	1199											
DLX4	1748	genome.wustl.edu	37	chr17	48051224	48051224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacccaaggcagggaccctgCccaccagtggctatggcaac	10	5	11	15	0	0	0	0	0	0	0	0	1	0	1	4	4	3	3	4	4	4	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:48051224C>T	ENST00000240306.3	+	3	935	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	DLX4_ENST00000411890.2_Missense_Mutation_p.P142S	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	214					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						AGGGACCCTGCCCACCAGTGG	0.622																																																	0													53	55	54					17																	48051224		2203	4300	6503	SO:0001583	missense	0				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.640C>T	17.37:g.48051224C>T	ENSP00000240306:p.Pro214Ser		D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P214S	ENST00000240306.3	37	c.640	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768012	0.49680	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	D;D	0.92299	-2.82;-3.01	5.03	3.04	0.35103	.	.	.	.	.	D	0.89252	0.6662	L	0.43152	1.355	0.38668	D	0.952234	P;B	0.41313	0.745;0.055	P;B	0.47915	0.561;0.044	D	0.84113	0.0402	9	0.18276	T	0.48	-17.0151	8.2958	0.31984	0.0:0.755:0.1584:0.0865	.	142;214	Q92988-2;Q92988	.;DLX4_HUMAN	S	214;142	ENSP00000240306:P214S;ENSP00000410622:P142S	ENSP00000240306:P214S	P	+	1	0	DLX4	45406223	0.031000	0.19500	0.993000	0.49108	0.864000	0.49448	0.255000	0.18333	0.695000	0.31675	0.561000	0.74099	CCC	DLX4	-	NULL	ENSG00000108813		0.622	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	-	0	58	0	C			48051224	1	tier1	-	no_errors	ENST00000240306	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.931	T	T	48051224	C	T	48051224	3	4	4	1	0	0	0	0	1	0	0	0	4587	739	26	3	717	3	DLX4	17	48051224	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	7044706	48051224	33143986	289	1200											
KIF2B	84643	genome.wustl.edu	37	chr17	51900497	51900497	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatctacgtggcgatcCagcgcagtgacaagcggatc	10	6	14	11	4	1	1	0	1	1	0	3	3	2	2	1	3	3	2	1	3	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:51900497C>T	ENST00000268919.4	+	1	259	c.103C>T	c.(103-105)Cag>Tag	p.Q35*		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	35					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGGCGATCCAGCGCAGTGA	0.552																																																	0													135	110	119					17																	51900497		2203	4300	6503	SO:0001587	stop_gained	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.103C>T	17.37:g.51900497C>T	ENSP00000268919:p.Gln35*		Q96MA2|Q9BXG6	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q35*	ENST00000268919.4	37	c.103	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188039	0.57909	.	.	ENSG00000141200	ENST00000268919	.	.	.	4.96	1.56	0.23342	.	0.501510	0.16373	N	0.217228	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	8.3798	0.32463	0.2605:0.6197:0.1198:0.0	.	.	.	.	X	35	.	ENSP00000268919:Q35X	Q	+	1	0	KIF2B	49255496	0.997000	0.39634	0.993000	0.49108	0.101000	0.19017	0.752000	0.26362	0.276000	0.22118	0.655000	0.94253	CAG	KIF2B	-	NULL	ENSG00000141200		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0	69	0	C	NM_032559		51900497	1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	nonsense	61.67	23	37	SNP	1.000	T	T	51900497	C	T	51900497	4	4	4	1	0	0	0	0	0	1	0	0	8325	595	21	3	105	3	KIF2B	17	51900497	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	3849273	51900497	29294713	290	1201											
KIF2B	84643	genome.wustl.edu	37	chr17	51900805	51900805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggatgtgagggtccccagCaaaccttgtctgatgaagca	10	9	12	10	0	1	3	0	3	1	0	2	4	2	4	3	2	3	2	3	2	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:51900805C>A	ENST00000268919.4	+	1	567	c.411C>A	c.(409-411)agC>agA	p.S137R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	137					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGTCCCCAGCAAACCTTGTC	0.582																																																	0													58	60	60					17																	51900805		2203	4300	6503	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.411C>A	17.37:g.51900805C>A	ENSP00000268919:p.Ser137Arg		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S137R	ENST00000268919.4	37	c.411	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694799	0.30052	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74002	-0.8	4.99	4.99	0.66335	.	0.000000	0.45361	D	0.000374	T	0.60741	0.2292	N	0.22421	0.69	0.32932	D	0.517247	B	0.20887	0.049	B	0.19148	0.024	T	0.63492	-0.6625	10	0.28530	T	0.3	.	13.9594	0.64170	0.0:1.0:0.0:0.0	.	137	Q8N4N8	KIF2B_HUMAN	R	137;60	ENSP00000268919:S137R	ENSP00000268919:S137R	S	+	3	2	KIF2B	49255804	0.911000	0.30947	0.962000	0.40283	0.934000	0.57294	1.689000	0.37700	2.739000	0.93911	0.655000	0.94253	AGC	KIF2B	-	NULL	ENSG00000141200		0.582	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0	30	0	C	NM_032559		51900805	1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.977	A	A	51900805	C	A	51900805	3	1	4	1	0	0	0	0	1	0	0	0	8325	709	25	3	413	3	KIF2B	17	51900805	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	308	51900805	29294405	291	1202											
KIF2B	84643	genome.wustl.edu	37	chr17	51901908	51901908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacactggtgctccgggActcctttataggccagaact	9	10	9	13	1	1	1	1	0	0	1	3	2	3	2	3	3	2	1	3	3	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:51901908A>G	ENST00000268919.4	+	1	1670	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	505	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGCTCCGGGACTCCTTTATA	0.478																																																	0													55	53	54					17																	51901908		2203	4300	6503	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1514A>G	17.37:g.51901908A>G	ENSP00000268919:p.Asp505Gly		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D505G	ENST00000268919.4	37	c.1514	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	A	21.3	4.132620	0.77662	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.21932	1.98	5.51	5.51	0.81932	Kinesin, motor domain (4);	0.000000	0.47093	D	0.000253	T	0.54498	0.1862	H	0.94582	3.555	0.53005	D	0.999969	D	0.60160	0.987	P	0.62491	0.903	T	0.67803	-0.5576	10	0.87932	D	0	.	13.2917	0.60274	1.0:0.0:0.0:0.0	.	505	Q8N4N8	KIF2B_HUMAN	G	505;393	ENSP00000268919:D505G	ENSP00000268919:D505G	D	+	2	0	KIF2B	49256907	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.188000	0.72045	2.210000	0.71456	0.533000	0.62120	GAC	KIF2B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000141200		0.478	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0	40	0	A	NM_032559		51901908	1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	G	G	51901908	A	G	51901908	3	3	4	1	0	0	0	0	1	0	0	0	8325	275	10	4	1516	4	KIF2B	17	51901908	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	1103	51901908	29293302	292	1203											
SFRS1	6426	genome.wustl.edu	37	chr17	56084379	56084379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgatgtcgcggatagcGccgtatttgtagaacacgtc	9	10	13	9	6	0	1	0	0	0	1	3	3	0	2	1	2	2	2	1	2	4	4	rs371522057		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:56084379G>A	ENST00000258962.4	-	1	328	c.120C>T	c.(118-120)ggC>ggT	p.G40G	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000584773.1_Silent_p.G40G|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000585096.1_Silent_p.G40G|SRSF1_ENST00000582730.2_Silent_p.G40G	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	40	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGCGGATAGCGCCGTATTTGT	0.602																																																	0													188	147	161					17																	56084379		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10780	protein-coding gene	gene with protein product	"splicing factor 2", "pre-mRNA-splicing factor SF2, P33 subunit", "alternate splicing factor", "SR splicing factor 1"	600812	"splicing factor, arginine/serine-rich 1"	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.120C>T	17.37:g.56084379G>A			B2R6Z7|D3DTZ3|Q13809	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G40	ENST00000258962.4	37	c.120	CCDS11600.1	17																																																																																			SRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000136450		0.602	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF1	HGNC	protein_coding	OTTHUMT00000443335.1		0	71	0	G	NM_006924		56084379	-1			no_errors	ENST00000258962	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.998	A	A	56084379	G	A	56084379	2	1	4	1	0	0	0	0	0	0	0	1	14210	1074	38	1		1	SFRS1	17	56084379	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4182471	56084379	25110831	293	1204											
PPM1D	8493	genome.wustl.edu	37	chr17	58740749	58740749	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatgaagaagcatagaCgaaatggcttaagtcgaagt	15	8	11	7	2	0	4	0	2	0	2	1	6	0	4	1	1	1	2	1	1	6	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:58740749C>T	ENST00000305921.3	+	6	1886	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	552					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAAGCATAGACGAAATGGCTT	0.463											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													83	78	79					17																	58740749		2203	4300	6503	SO:0001587	stop_gained	0			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1654C>T	17.37:g.58740749C>T	ENSP00000306682:p.Arg552*	1033	Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R552*	ENST00000305921.3	37	c.1654	CCDS11625.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.792247	0.98492	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	5.1	0.69264	.	0.119916	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7031	8.6569	0.34068	0.2731:0.6587:0.0:0.0683	.	.	.	.	X	552	.	ENSP00000306682:R552X	R	+	1	2	PPM1D	56095531	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.428000	0.34892	1.542000	0.49330	0.591000	0.81541	CGA	PPM1D	-	NULL	ENSG00000170836		0.463	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1	-	0	46	0	C	NM_003620		58740749	1	tier1	-	no_errors	ENST00000305921	ensembl	human	known	74_37	nonsense	62.26	20	33	SNP	0.999	T	T	58740749	C	T	58740749	4	4	4	1	0	0	0	0	0	1	0	0	12379	528	19	1	1676	1	PPM1D	17	58740749	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	2656370	58740749	22454461	294	1205											
CBX4	8535	genome.wustl.edu	37	chr17	77808433	77808433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcctggggctgcggatcGctaaccccggacacctcctc	6	7	11	17	3	0	0	0	0	0	0	4	2	2	2	5	4	2	3	5	4	1	1	rs371126696		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr17:77808433G>A	ENST00000269397.4	-	5	1185	c.1008C>T	c.(1006-1008)agC>agT	p.S336S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	336	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S336R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCGGATCGCTAACCCCGG	0.662											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	lung(1)						G		1,4405		0,1,2202	23	23	23		1008	-6.3	0	17		23	0,8600		0,0,4300	no	coding-synonymous	CBX4	NM_003655.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		336/561	77808433	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"NS5ATP1-binding protein 16", "Pc class 2 homolog (Drosophila)"	603079	"chromobox homolog 4 (Drosophila Pc class)"			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1008C>T	17.37:g.77808433G>A		1178	B1PJR7|Q6TPI8|Q96C04	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.S336	ENST00000269397.4	37	c.1008	CCDS32758.1	17																																																																																			CBX4	-	NULL	ENSG00000141582		0.662	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1		0	16	0	G	NM_003655		77808433	-1			no_errors	ENST00000269397	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.000	A	A	77808433	G	A	77808433	2	1	4	1	0	0	0	0	0	0	0	1	2727	1078	38	1		1	CBX4	17	77808433	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	19067684	77808433	3386777	295	1206											
LAMA1	284217	genome.wustl.edu	37	chr18	6995391	6995391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtttcttctgcaacacCttcaagcttaatttttccca	8	16	4	13	1	3	0	1	0	2	0	5	0	5	0	3	0	3	3	3	0	3	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:6995391C>T	ENST00000389658.3	-	34	4954	c.4861G>A	c.(4861-4863)Ggt>Agt	p.G1621S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1621	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCTGCAACACCTTCAAGCTTA	0.403																																																	0													214	198	204					18																	6995391		2203	4298	6501	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4861G>A	18.37:g.6995391C>T	ENSP00000374309:p.Gly1621Ser			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G1621S	ENST00000389658.3	37	c.4861	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	2.393	-0.339462	0.05243	.	.	ENSG00000101680	ENST00000389658	T	0.08720	3.06	5.07	3.29	0.37713	Laminin I (1);	1.500750	0.03397	N	0.202701	T	0.08714	0.0216	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.43426	-0.9392	10	0.13108	T	0.6	.	8.4525	0.32880	0.0:0.815:0.0:0.185	.	1621	P25391	LAMA1_HUMAN	S	1621	ENSP00000374309:G1621S	ENSP00000374309:G1621S	G	-	1	0	LAMA1	6985391	0.003000	0.15002	0.003000	0.11579	0.026000	0.11368	0.137000	0.15995	0.815000	0.34398	-0.145000	0.13849	GGT	LAMA1	-	pfam_Laminin_I	ENSG00000101680		0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	85	0	C	NM_005559		6995391	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.009	T	T	6995391	C	T	6995391	3	4	4	1	0	0	0	0	1	0	0	0	8633	681	24	3	4486	3	LAMA1	18	6995391	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09		6995391	71081857	296	1207											
LAMA1	284217	genome.wustl.edu	37	chr18	7010314	7010314	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaacttgaggctcaaaaTtggaggtgccgacgccatcc	11	8	12	10	2	1	2	1	2	0	1	2	5	2	3	3	3	2	1	3	3	3	2	rs201808882		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:7010314T>G	ENST00000389658.3	-	26	3851	c.3758A>C	c.(3757-3759)aAt>aCt	p.N1253T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1253	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGGCTCAAAATTGGAGGTGCC	0.453																																																	0													143	128	133					18																	7010314		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3758A>C	18.37:g.7010314T>G	ENSP00000374309:p.Asn1253Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.N1253T	ENST00000389658.3	37	c.3758	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480588	0.44044	.	.	ENSG00000101680	ENST00000389658	T	0.35605	1.3	5.57	5.57	0.84162	Laminin B type IV (2);Laminin B, subgroup (1);	0.053759	0.64402	D	0.000001	T	0.47746	0.1462	L	0.53729	1.69	0.44555	D	0.997518	D	0.54047	0.964	P	0.58013	0.831	T	0.34354	-0.9832	10	0.10636	T	0.68	.	15.7322	0.77814	0.0:0.0:0.0:1.0	.	1253	P25391	LAMA1_HUMAN	T	1253	ENSP00000374309:N1253T	ENSP00000374309:N1253T	N	-	2	0	LAMA1	7000314	1.000000	0.71417	0.984000	0.44739	0.848000	0.48234	5.920000	0.70017	2.127000	0.65507	0.472000	0.43445	AAT	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000101680		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	69	0	T	NM_005559		7010314	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.995	G	G	7010314	T	G	7010314	3	3	4	1	0	0	0	0	1	0	0	0	8633	1493	52	4	5621	4	LAMA1	18	7010314	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	14923	7010314	71066934	297	1208											
GNAL	2774	genome.wustl.edu	37	chr18	11876682	11876682	+	Frame_Shift_Del	DEL	T	T	-																															agttctttatccgggacctgTttttggtaagcaattttgtt																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:11876682delT	ENST00000423027.3	+	11	1315	c.994delT	c.(994-996)tttfs	p.F332fs	GNAL_ENST00000269162.5_Frame_Shift_Del_p.F332fs|GNAL_ENST00000535121.1_Frame_Shift_Del_p.F332fs|GNAL_ENST00000334049.6_Frame_Shift_Del_p.F409fs|GNAL_ENST00000602628.1_Frame_Shift_Del_p.F125fs			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	332					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CCGGGACCTGTTTTTGGTAAG	0.348																																																	0													157	143	148					18																	11876682		2203	4300	6503	SO:0001589	frameshift_variant	0			AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000423027.3:c.994delT	18.37:g.11876682delT	ENSP00000408489:p.Phe332fs		B7ZA26|Q86XU3	Frame_Shift_Del	DEL	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S	p.L410fs	ENST00000423027.3	37	c.1225	CCDS11852.1	18																																																																																			GNAL	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S	ENSG00000141404		0.348	GNAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAL	HGNC	protein_coding	OTTHUMT00000254561.2		0	108	0	T	NM_182978, NM_002071		11876682	1	tier1		no_errors	ENST00000334049	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	1.000	-	-	11876682	T	-	11876682	7	5	4	1	0	1	0	1	0	0	0	0	6533	1725	60	0	1416	0	GNAL	18	11876682	Frame_Shift_Del	DEL	T	TCGA-2H-A9GI-01A-11D-A37C-09	4866368	11876682	66200566	298	1209											
CHST9	83539	genome.wustl.edu	37	chr18	24496546	24496546	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacggtgggaatccagcaAgtagtggataaactctttga	12	10	13	6	1	1	1	0	1	1	0	2	4	2	4	1	4	2	2	1	4	5	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:24496546A>C	ENST00000284224.8	-	6	1286	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.L337V|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	337					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAATCCAGCAAGTAGTGGATA	0.398																																																	0													134	128	130					18																	24496546		1900	4114	6014	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1009T>G	18.37:g.24496546A>C	ENSP00000284224:p.Leu337Val		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L337V	ENST00000284224.8	37	c.1009	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057731	0.36277	.	.	ENSG00000154080	ENST00000284224	T	0.73789	-0.78	6.17	1.23	0.21249	.	0.000000	0.53938	D	0.000045	T	0.78960	0.4366	L	0.52364	1.645	0.80722	D	1	P	0.47191	0.891	P	0.61874	0.895	T	0.77590	-0.2531	10	0.87932	D	0	-12.8716	10.4137	0.44309	0.6693:0.0:0.3307:0.0	.	337	Q7L1S5	CHST9_HUMAN	V	337	ENSP00000284224:L337V	ENSP00000284224:L337V	L	-	1	2	CHST9	22750544	0.987000	0.35691	0.999000	0.59377	0.801000	0.45260	0.361000	0.20267	0.194000	0.20326	-0.408000	0.06270	TTG	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	-	0	66	0	A	NM_031422		24496546	-1	tier1	-	no_errors	ENST00000284224	ensembl	human	known	74_37	missense	40.38	31	21	SNP	0.996	C	C	24496546	A	C	24496546	3	2	4	1	0	0	0	0	1	0	0	0	3418	69	3	4	326	4	CHST9	18	24496546	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	12619864	24496546	53580702	299	1210											
DSG1	1828	genome.wustl.edu	37	chr18	28934711	28934711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacactctgaagccctctgTgcacgttcacgataaccgac	10	9	8	14	3	3	2	1	2	2	0	3	4	3	2	2	0	3	2	2	0	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:28934711T>A	ENST00000257192.4	+	15	2764	c.2552T>A	c.(2551-2553)gTg>gAg	p.V851E	RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.V210E|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	851					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAGCCCTCTGTGCACGTTCAC	0.517																																																	0													207	177	187					18																	28934711		2203	4300	6503	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2552T>A	18.37:g.28934711T>A	ENSP00000257192:p.Val851Glu		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.V851E	ENST00000257192.4	37	c.2552	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	T	5.721	0.317448	0.10845	.	.	ENSG00000134760	ENST00000257192	D	0.81659	-1.52	5.76	3.45	0.39498	.	0.207643	0.33875	N	0.004468	T	0.81143	0.4761	M	0.72479	2.2	0.40836	D	0.983635	P	0.51351	0.944	P	0.48704	0.587	T	0.83330	-0.0013	10	0.72032	D	0.01	.	8.7301	0.34494	0.0:0.1888:0.0:0.8112	.	851	Q02413	DSG1_HUMAN	E	851	ENSP00000257192:V851E	ENSP00000257192:V851E	V	+	2	0	DSG1	27188709	1.000000	0.71417	0.996000	0.52242	0.174000	0.22865	2.180000	0.42537	2.206000	0.71126	0.383000	0.25322	GTG	DSG1	-	NULL	ENSG00000134760		0.517	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	-	0	37	0	T	NM_001942		28934711	1	tier1	-	no_errors	ENST00000257192	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.751	A	A	28934711	T	A	28934711	3	1	4	1	0	0	0	0	1	0	0	0	4790	1696	59	5	2610	5	DSG1	18	28934711	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	4438165	28934711	49142537	300	1211											
NOL4	8715	genome.wustl.edu	37	chr18	31599532	31599532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactgtgccccagagtcTcattgccattaaagctctct	9	13	7	12	0	2	2	1	1	2	1	4	2	2	2	3	0	4	1	3	0	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr18:31599532T>C	ENST00000261592.5	-	6	1103	c.806A>G	c.(805-807)gAg>gGg	p.E269G	NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.E269G|NOL4_ENST00000269185.4_Missense_Mutation_p.E155G|NOL4_ENST00000535475.1_Missense_Mutation_p.E114G|NOL4_ENST00000538587.1_Missense_Mutation_p.E195G	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	269						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCCCAGAGTCTCATTGCCATT	0.433																																																	0													104	97	99					18																	31599532		2203	4300	6503	SO:0001583	missense	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.806A>G	18.37:g.31599532T>C	ENSP00000261592:p.Glu269Gly		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.E269G	ENST00000261592.5	37	c.806	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152087	0.38021	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535475;ENST00000538587	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.61	5.61	0.85477	.	0.092688	0.47455	D	0.000221	D	0.87565	0.6209	L	0.40543	1.245	0.48571	D	0.999677	B;D;P;P;D;D	0.67145	0.041;0.996;0.729;0.787;0.989;0.996	B;D;B;B;D;P	0.75484	0.022;0.986;0.153;0.367;0.969;0.895	D	0.83465	0.0056	10	0.08599	T	0.76	-18.7973	15.8198	0.78631	0.0:0.0:0.0:1.0	.	155;18;195;269;269;114	B4DLW2;F8W825;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;.;NOL4_HUMAN;.;.	G	269;155;18;114;195	ENSP00000261592:E269G;ENSP00000269185:E155G;ENSP00000438190:E114G;ENSP00000443472:E195G	ENSP00000261592:E269G	E	-	2	0	NOL4	29853530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.825000	0.69286	2.141000	0.66446	0.519000	0.50382	GAG	NOL4	-	NULL	ENSG00000101746		0.433	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	-	0	61	0	T	NM_003787		31599532	-1	tier1	-	no_errors	ENST00000261592	ensembl	human	known	74_37	missense	38.89	32	21	SNP	1.000	C	C	31599532	T	C	31599532	3	2	4	1	0	0	0	0	1	0	0	0	10563	1551	54	4	1134	4	NOL4	18	31599532	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	2664821	31599532	46477716	301	1212											
SAFB2	9667	genome.wustl.edu	37	chr19	5600224	5600224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcttaatgtcttcaggcTttttttcctccttcttctca	4	21	3	13	0	5	0	2	0	4	0	8	0	7	0	3	1	0	1	3	1	1	8			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:5600224T>C	ENST00000252542.4	-	12	1871	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	536	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTCTTCAGGCTTTTTTTCCTC	0.388																																					Ovarian(127;888 1728 23957 44128 52668)												0													206	182	190					19																	5600224		2203	4300	6503	SO:0001583	missense	0			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1607A>G	19.37:g.5600224T>C	ENSP00000252542:p.Lys536Arg		B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.K536R	ENST00000252542.4	37	c.1607	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	T	7.600	0.672638	0.14776	.	.	ENSG00000130254	ENST00000252542	T	0.22336	1.96	5.28	-1.45	0.08828	.	1.438130	0.04463	N	0.374651	T	0.12475	0.0303	N	0.11000	0.08	0.09310	N	0.999996	B	0.13145	0.007	B	0.09377	0.004	T	0.33394	-0.9870	10	0.30078	T	0.28	-1.9012	11.2771	0.49174	0.0:0.4025:0.0:0.5975	.	536	Q14151	SAFB2_HUMAN	R	536	ENSP00000252542:K536R	ENSP00000252542:K536R	K	-	2	0	SAFB2	5551224	0.002000	0.14202	0.046000	0.18839	0.561000	0.35649	0.299000	0.19138	-0.219000	0.10003	-0.408000	0.06270	AAG	SAFB2	-	NULL	ENSG00000130254		0.388	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	HGNC	protein_coding	OTTHUMT00000451016.1		0	62	0	T	NM_014649		5600224	-1			no_errors	ENST00000252542	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.350	C	C	5600224	T	C	5600224	3	2	4	1	0	0	0	0	1	0	0	0	13852	1609	56	4	1294	4	SAFB2	19	5600224	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09		5600224	53528759	302	1213											
STXBP2	6813	genome.wustl.edu	37	chr19	7706941	7706941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagaggacacagcccaGttggcccacgccgtcctggc	7	4	13	17	2	0	1	0	0	0	1	1	2	1	2	5	4	1	1	5	4	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:7706941G>A	ENST00000221283.5	+	8	631	c.600G>A	c.(598-600)caG>caA	p.Q200Q	CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Silent_p.Q197Q|STXBP2_ENST00000441779.2_Silent_p.Q211Q	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	200					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACACAGCCCAGTTGGCCCACG	0.662																																																	0													82	91	88					19																	7706941		2203	4299	6502	SO:0001819	synonymous_variant	0			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.600G>A	19.37:g.7706941G>A			B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	NULL	p.V25I	ENST00000221283.5	37	c.73	CCDS12181.1	19																																																																																			CTD-3214H19.4	-	NULL	ENSG00000268400		0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268400	Clone_based_vega_gene	protein_coding	OTTHUMT00000460963.1	-	0	68	0	G	NM_006949		7706941	1	tier1	-	no_errors	ENST00000598664	ensembl	human	known	74_37	missense	49.18	31	30	SNP	0.921	A	A	7706941	G	A	7706941	2	1	4	1	0	0	0	0	0	0	0	1	15400	1020	36	3		3	STXBP2	19	7706941	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	2106717	7706941	51422042	303	1214											
MUC16	94025	genome.wustl.edu	37	chr19	9049753	9049753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgactggtggctgtggaAgatacagtgtctaattcact	10	12	11	8	0	2	2	1	1	1	1	2	3	2	3	1	3	1	1	1	3	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9049753A>G	ENST00000397910.4	-	5	32081	c.31878T>C	c.(31876-31878)tcT>tcC	p.S10626S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10628	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTGTGGAAGATACAGTGT	0.478																																																	0													107	99	102					19																	9049753		1955	4149	6104	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31878T>C	19.37:g.9049753A>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S10626	ENST00000397910.4	37	c.31878	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	47	0	A	NM_024690		9049753	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.000	G	G	9049753	A	G	9049753	2	3	4	1	0	0	0	0	0	0	0	1	10011	59	3	4		4	MUC16	19	9049753	Silent	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	1342812	9049753	50079230	304	1215											
MUC16	94025	genome.wustl.edu	37	chr19	9075786	9075786	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtatcttctgagacagaaTtcatcatctcagtgatccaa	12	13	7	9	0	5	3	3	2	3	2	7	4	6	3	1	1	0	1	1	1	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9075786T>G	ENST00000397910.4	-	3	11863	c.11660A>C	c.(11659-11661)aAt>aCt	p.N3887T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3888	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGACAGAATTCATCATCTC	0.463																																																	0													108	99	102					19																	9075786		1984	4171	6155	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11660A>C	19.37:g.9075786T>G	ENSP00000381008:p.Asn3887Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.N3887T	ENST00000397910.4	37	c.11660	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	7.248	0.602603	0.13939	.	.	ENSG00000181143	ENST00000397910	T	0.02498	4.27	1.52	-1.95	0.07548	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.31174	0.311	B	0.26614	0.071	T	0.45293	-0.9271	8	0.87932	D	0	.	2.3337	0.04242	0.0:0.344:0.3055:0.3505	.	3887	B5ME49	.	T	3887	ENSP00000381008:N3887T	ENSP00000381008:N3887T	N	-	2	0	MUC16	8936786	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-1.499000	0.02285	-0.523000	0.06409	0.172000	0.16884	AAT	MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	34	0	T	NM_024690		9075786	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.000	G	G	9075786	T	G	9075786	3	3	4	1	0	0	0	0	1	0	0	0	10011	1493	52	4	32191	4	MUC16	19	9075786	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	26033	9075786	50053197	305	1216											
MUC16	94025	genome.wustl.edu	37	chr19	9084596	9084596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctatctgaagagaagaGagatggggaggaacttgctg	12	8	17	4	0	2	4	0	1	2	3	2	8	2	6	0	4	2	1	0	4	4	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9084596G>T	ENST00000397910.4	-	1	7422	c.7219C>A	c.(7219-7221)Ctc>Atc	p.L2407I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2407	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAGAAGAGAGATGGGGAG	0.473																																																	0													103	104	104					19																	9084596		1957	4155	6112	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7219C>A	19.37:g.9084596G>T	ENSP00000381008:p.Leu2407Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L2407I	ENST00000397910.4	37	c.7219	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.041	-0.420164	0.04734	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	0.225	0.225	0.15325	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	.	.	.	P	0.49696	0.927	P	0.56563	0.801	T	0.45862	-0.9232	7	0.87932	D	0	.	.	.	.	.	2407	B5ME49	.	I	2407	ENSP00000381008:L2407I	ENSP00000381008:L2407I	L	-	1	0	MUC16	8945596	0.001000	0.12720	0.100000	0.21137	0.100000	0.18952	-0.054000	0.11826	0.300000	0.22699	0.305000	0.20034	CTC	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	65	0	G	NM_024690		9084596	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.117	T	T	9084596	G	T	9084596	3	4	4	1	0	0	0	0	1	0	0	0	10011	942	33	3	36640	3	MUC16	19	9084596	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	8810	9084596	50044387	306	1217											
OR7G2	390882	genome.wustl.edu	37	chr19	9213844	9213844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacaggctgaaaaggaCgggctgcagttccggatcct	11	6	14	10	2	0	1	0	1	0	0	2	4	2	4	2	5	2	4	2	5	3	1	rs201831795		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:9213844C>T	ENST00000305456.2	-	1	138	c.139G>A	c.(139-141)Gtc>Atc	p.V47I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTGAAAAGGACGGGCTGCAGT	0.502																																					Esophageal Squamous(67;143 1448 28637 40648)												0													128	113	118					19																	9213844		2203	4300	6503	SO:0001583	missense	0				CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"GPCR / Class A : Olfactory receptors"	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.139G>A	19.37:g.9213844C>T	ENSP00000303822:p.Val47Ile		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V47I	ENST00000305456.2	37	c.139	CCDS32897.1	19	.	.	.	.	.	.	.	.	.	.	c	6.882	0.532118	0.13127	.	.	ENSG00000170923	ENST00000305456	T	0.00424	7.45	3.33	-6.65	0.01795	.	0.868307	0.09301	U	0.820950	T	0.00178	0.0005	N	0.13003	0.285	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.40701	-0.9549	10	0.39692	T	0.17	.	0.5605	0.00678	0.2088:0.1966:0.2412:0.3534	.	26	Q8NG99	OR7G2_HUMAN	I	47	ENSP00000303822:V47I	ENSP00000303822:V47I	V	-	1	0	OR7G2	9074844	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.278000	0.00261	-2.299000	0.00659	-2.890000	0.00095	GTC	OR7G2	-	prints_GPCR_Rhodpsn	ENSG00000170923		0.502	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G2	HGNC	protein_coding	OTTHUMT00000448994.1	-	0	71	0	C			9213844	-1	tier1	rs201831795	no_errors	ENST00000305456	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.000	T	T	9213844	C	T	9213844	3	4	4	1	0	0	0	0	1	0	0	0	11262	536	19	1	900	1	OR7G2	19	9213844	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	129248	9213844	49915139	307	1218											
ICAM1	3383	genome.wustl.edu	37	chr19	10394884	10394884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatggcaacgactccttctcGgccaaggcctcagtcagtgt	8	10	10	13	2	3	0	2	0	1	0	5	1	4	0	3	3	1	1	3	3	3	2	rs200759542		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:10394884G>A	ENST00000264832.3	+	4	1138	c.813G>A	c.(811-813)tcG>tcA	p.S271S	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.S49S|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	271	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	ACTCCTTCTCGGCCAAGGCCT	0.632																																																	0													80	60	67					19																	10394884		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.813G>A	19.37:g.10394884G>A			B2R6M3|Q5NKV7|Q96B50	Silent	SNP	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.S271	ENST00000264832.3	37	c.813	CCDS12231.1	19																																																																																			ICAM1	-	NULL	ENSG00000090339		0.632	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	HGNC	protein_coding	OTTHUMT00000451207.1	-	0	40	0	G			10394884	1	tier1	rs200759542	no_errors	ENST00000264832	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.009	A	A	10394884	G	A	10394884	2	1	4	1	0	0	0	0	0	0	0	1	7506	1103	39	1		1	ICAM1	19	10394884	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	1181040	10394884	48734099	308	1219											
OR7C2	26658	genome.wustl.edu	37	chr19	15052988	15052988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtcctaagagtatctGccagaggccagcacaaagcc	11	6	9	15	1	1	2	0	0	1	2	3	2	3	2	6	1	3	2	6	1	3	2	rs79984510		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:15052988G>T	ENST00000248072.3	+	1	688	c.688G>T	c.(688-690)Gcc>Tcc	p.A230S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AAGAGTATCTGCCAGAGGCCA	0.483																																																	0													160	150	153					19																	15052988		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.688G>T	19.37:g.15052988G>T	ENSP00000248072:p.Ala230Ser		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A230S	ENST00000248072.3	37	c.688	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	g	3.897	-0.022880	0.07634	.	.	ENSG00000127529	ENST00000248072	T	0.00174	8.62	3.98	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	0.807847	0.10361	U	0.684027	T	0.00073	0.0002	N	0.17838	0.53	0.09310	N	1	B	0.23128	0.08	B	0.27608	0.081	T	0.10200	-1.0640	10	0.15952	T	0.53	.	0.384	0.00399	0.2949:0.1393:0.3207:0.2451	.	230	O60412	OR7C2_HUMAN	S	230	ENSP00000248072:A230S	ENSP00000248072:A230S	A	+	1	0	OR7C2	14913988	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.065000	0.14466	-0.121000	0.11787	-0.346000	0.07831	GCC	OR7C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127529		0.483	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1		0	66	0	G			15052988	1			no_errors	ENST00000248072	ensembl	human	known	74_37	missense	8.45	65	6	SNP	0.000	T	T	15052988	G	T	15052988	3	4	4	1	0	0	0	0	1	0	0	0	11257	1319	46	3	690	3	OR7C2	19	15052988	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4658104	15052988	44075995	309	1220											
GATAD2A	54815	genome.wustl.edu	37	chr19	19613278	19613278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacattctgagagaaccGtgagcgccggcaagggcagc	11	4	15	11	3	1	4	0	2	1	2	1	5	1	4	2	2	3	3	2	2	2	1	rs372533863		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:19613278G>A	ENST00000360315.3	+	11	2026	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	GATAD2A_ENST00000358713.3_Missense_Mutation_p.V572M|GATAD2A_ENST00000252577.5_Missense_Mutation_p.V547M|GATAD2A_ENST00000404158.1_Missense_Mutation_p.V573M|GATAD2A_ENST00000537887.1_Missense_Mutation_p.V201M|GATAD2A_ENST00000429563.2_Missense_Mutation_p.V375M	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	572					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						TGAGAGAACCGTGAGCGCCGG	0.642																																																	0								G	MET/VAL	0,4404		0,0,2202	73	81	78		1714	-0.1	0	19		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	GATAD2A	NM_017660.3	21	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	572/634	19613278	1,13003	2202	4300	6502	SO:0001583	missense	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.1714G>A	19.37:g.19613278G>A	ENSP00000353463:p.Val572Met		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.V572M	ENST00000360315.3	37	c.1714	CCDS12402.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.213|4.213	0.038331|0.038331	0.08148|0.08148	0.0|0.0	1.16E-4|1.16E-4	ENSG00000167491|ENSG00000167491	ENST00000418032|ENST00000360315;ENST00000252577;ENST00000537887;ENST00000404158;ENST00000358713;ENST00000429563	.|T;T;T;T	.|0.50277	.|1.42;1.34;1.42;0.75	5.11|5.11	-0.119|-0.119	0.13543|0.13543	.|.	.|0.693218	.|0.14709	.|N	.|0.303067	T|T	0.35566|0.35566	0.0936|0.0936	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.26041	.|0.021;0.14;0.122	.|B;B;B	.|0.17979	.|0.008;0.009;0.02	T|T	0.19192|0.19192	-1.0313|-1.0313	5|10	.|0.40728	.|T	.|0.16	-30.6749|-30.6749	5.3438|5.3438	0.15998|0.15998	0.252:0.2654:0.4825:0.0|0.252:0.2654:0.4825:0.0	.|.	.|375;592;572	.|B4DKZ7;B5MC40;Q86YP4	.|.;.;P66A_HUMAN	H|M	173|572;547;201;592;572;375	.|ENSP00000353463:V572M;ENSP00000252577:V547M;ENSP00000351552:V572M;ENSP00000388416:V375M	.|ENSP00000252577:V547M	R|V	+|+	2|1	0|0	GATAD2A|GATAD2A	19474278|19474278	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	0.185000|0.185000	0.16958|0.16958	-0.145000|-0.145000	0.11294|0.11294	-0.145000|-0.145000	0.13849|0.13849	CGT|GTG	GATAD2A	-	NULL	ENSG00000167491		0.642	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	-	0	101	0	G	NM_017660		19613278	1	tier1	-	no_errors	ENST00000358713	ensembl	human	known	74_37	missense	43.06	40	31	SNP	0.000	A	A	19613278	G	A	19613278	3	1	4	1	0	0	0	0	1	0	0	0	6285	1145	40	1	1752	1	GATAD2A	19	19613278	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	4560290	19613278	39515705	310	1221											
ZNF486	90649	genome.wustl.edu	37	chr19	20308762	20308762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaagaatgtggcaaagcgTatactacatcctcaaatcta	15	10	8	8	1	2	2	1	1	1	1	3	2	3	2	1	1	3	2	1	1	8	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:20308762T>C	ENST00000335117.8	+	4	1300	c.1243T>C	c.(1243-1245)Tat>Cat	p.Y415H	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGCAAAGCGTATACTACATC	0.403																																																	0													32	34	34					19																	20308762		2190	4288	6478	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.1243T>C	19.37:g.20308762T>C	ENSP00000335042:p.Tyr415His		Q0VG00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y415H	ENST00000335117.8	37	c.1243	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	-	7.975	0.749935	0.15778	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.17528	2.27	0.149	0.149	0.14863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	L	0.52759	1.655	0.09310	N	1	D	0.55800	0.973	P	0.56163	0.793	T	0.11616	-1.0580	9	0.87932	D	0	.	4.6416	0.12552	0.0:4.0E-4:0.0:0.9996	.	415	Q96H40	ZN486_HUMAN	H	454;415	ENSP00000335042:Y415H	ENSP00000335042:Y415H	Y	+	1	0	ZNF486	20169762	0.989000	0.36119	0.280000	0.24747	0.280000	0.26924	2.864000	0.48404	0.166000	0.19597	0.164000	0.16699	TAT	ZNF486	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256229		0.403	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0	55	0	T	NM_052852		20308762	1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.039	C	C	20308762	T	C	20308762	3	2	4	1	0	0	0	0	1	0	0	0	17987	1638	57	4	1257	4	ZNF486	19	20308762	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	695484	20308762	38820221	311	1222											
ZNF681	148213	genome.wustl.edu	37	chr19	23927700	23927700	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctctccaatatgaattcTtttatgtttagtaaagattg	11	20	5	5	0	2	2	0	1	2	1	4	2	3	2	1	0	0	2	1	0	7	9			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:23927700T>G	ENST00000402377.3	-	4	793	c.652A>C	c.(652-654)Aga>Cga	p.R218R	ZNF681_ENST00000395385.3_Silent_p.R149R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	218					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATGAATTCTTTTATGTTTA	0.313																																																	0													35	36	36					19																	23927700		2202	4294	6496	SO:0001819	synonymous_variant	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.652A>C	19.37:g.23927700T>G			B3KVF7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R218	ENST00000402377.3	37	c.652	CCDS12414.2	19																																																																																			ZNF681	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196172		0.313	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	92	0	T	NM_138286		23927700	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	silent	32.94	57	28	SNP	0.100	G	G	23927700	T	G	23927700	2	3	4	1	0	0	0	0	0	0	0	1	18136	1617	56	4		4	ZNF681	19	23927700	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	3618938	23927700	35201283	312	1223											
GRAMD1A	57655	genome.wustl.edu	37	chr19	35514444	35514444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcctccgtggagctccTggatgaggtaggaggcgccg	5	6	19	11	4	0	1	0	1	0	0	2	4	2	4	4	6	1	2	4	6	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:35514444T>C	ENST00000317991.5	+	19	2267	c.2075T>C	c.(2074-2076)cTg>cCg	p.L692P	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.L775P|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.L454P|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.L681P	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	692						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGGAGCTCCTGGATGAGGTA	0.682																																																	0													14	17	16					19																	35514444		1944	4123	6067	SO:0001583	missense	0			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"KIAA1533"	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.2075T>C	19.37:g.35514444T>C	ENSP00000441032:p.Leu692Pro		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.L692P	ENST00000317991.5	37	c.2075	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907027	0.72868	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.74842	-0.88;0.17;0.17	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000009	D	0.82328	0.5013	L	0.60067	1.865	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.91635	0.997;0.993;0.999;0.997	D	0.83975	0.0329	10	0.87932	D	0	.	11.6034	0.51017	0.0:0.0:0.0:1.0	.	688;692;454;681	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2	.;GRM1A_HUMAN;.;.	P	774;454;692;681	ENSP00000423728:L454P;ENSP00000441032:L692P;ENSP00000439267:L681P	ENSP00000441032:L692P	L	+	2	0	GRAMD1A	40206284	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.736000	0.74811	1.898000	0.54952	0.477000	0.44152	CTG	GRAMD1A	-	NULL	ENSG00000089351		0.682	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	-	0	33	0	T	NM_020895		35514444	1	tier1	-	no_errors	ENST00000317991	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C	C	35514444	T	C	35514444	3	2	4	1	0	0	0	0	1	0	0	0	6774	1580	55	4	2149	4	GRAMD1A	19	35514444	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	11586744	35514444	23614539	313	1224											
FAM187B	148109	genome.wustl.edu	37	chr19	35719356	35719356	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgagaaggctgccctcGggcattatttccatattgga	10	13	10	8	1	0	1	0	1	0	1	2	3	1	2	2	3	1	2	2	3	4	5	rs146665895		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:35719356G>T	ENST00000324675.3	-	1	276	c.228C>A	c.(226-228)ccC>ccA	p.P76P		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	76						integral component of membrane (GO:0016021)		p.P76P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GGCTGCCCTCGGGCATTATTT	0.507																																																	1	Substitution - coding silent(1)	lung(1)											56	57	57					19																	35719356		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.228C>A	19.37:g.35719356G>T			Q8N7G6	Silent	SNP	NULL	p.P76	ENST00000324675.3	37	c.228	CCDS12448.1	19																																																																																			FAM187B	-	NULL	ENSG00000177558		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1		0	63	0	G	NM_152481		35719356	-1			no_errors	ENST00000324675	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.000	T	T	35719356	G	T	35719356	2	4	4	1	0	0	0	0	0	0	0	1	5532	1103	39	2		2	FAM187B	19	35719356	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	204912	35719356	23409627	314	1225											
RBM42	79171	genome.wustl.edu	37	chr19	36122048	36122048	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcctcgacaggtccagCagactctggaggcccgagca	8	7	11	15	2	2	1	0	0	2	1	5	4	4	2	3	3	2	2	3	3	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:36122048C>G	ENST00000262633.4	+	3	394	c.289C>G	c.(289-291)Cag>Gag	p.Q97E	RBM42_ENST00000589559.1_Missense_Mutation_p.Q97E|RBM42_ENST00000360475.4_Missense_Mutation_p.Q97E|RBM42_ENST00000586618.1_Missense_Mutation_p.Q97E|RBM42_ENST00000589871.1_Missense_Mutation_p.Q97E|RBM42_ENST00000592202.1_Missense_Mutation_p.Q97E|RBM42_ENST00000588161.1_Missense_Mutation_p.Q97E	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	97						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACAGGTCCAGCAGACTCTGGA	0.587																																																	0													76	76	76					19																	36122048		2203	4300	6503	SO:0001583	missense	0			BC004204	CCDS12468.1	19q13.12	2013-02-12				ENSG00000126254		"RNA binding motif (RRM) containing"	28117	protein-coding gene	gene with protein product		613232				12477932	Standard	NM_024321		Approved	MGC10433	uc002oan.3	Q9BTD8		ENST00000262633.4:c.289C>G	19.37:g.36122048C>G	ENSP00000262633:p.Gln97Glu		O00320|Q8N5R7|Q9BU66	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q97E	ENST00000262633.4	37	c.289	CCDS12468.1	19	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448959	0.63178	.	.	ENSG00000126254	ENST00000262633;ENST00000360475	T;T	0.26660	2.05;1.72	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	L	0.54323	1.7	0.53005	D	0.999966	D;P;P;P;P	0.58268	0.982;0.954;0.949;0.954;0.713	D;D;D;D;P	0.70227	0.968;0.932;0.922;0.932;0.68	T	0.39482	-0.9612	10	0.66056	D	0.02	-14.4828	15.3598	0.74464	0.0:1.0:0.0:0.0	.	97;97;97;97;97	B4DWT0;Q9BTD8-4;Q9BTD8-3;Q9BTD8-2;Q9BTD8	.;.;.;.;RBM42_HUMAN	E	97	ENSP00000262633:Q97E;ENSP00000353663:Q97E	ENSP00000262633:Q97E	Q	+	1	0	RBM42	40813888	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.903000	0.69877	2.506000	0.84524	0.555000	0.69702	CAG	RBM42	-	NULL	ENSG00000126254		0.587	RBM42-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM42	HGNC	protein_coding	OTTHUMT00000459057.2	-	0	67	0	C	NM_024321		36122048	1	tier1	-	no_errors	ENST00000262633	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	G	G	36122048	C	G	36122048	3	3	4	1	0	0	0	0	1	0	0	0	13181	711	25	5	299	5	RBM42	19	36122048	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	402692	36122048	23006935	315	1226											
ZFP30	22835	genome.wustl.edu	37	chr19	38126486	38126486	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtttttctccagtatgaAgtttgtgatgtagtcgaagg	9	15	13	4	1	1	2	0	2	1	0	3	3	1	2	1	2	0	4	1	2	4	5			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:38126486A>C	ENST00000351218.2	-	6	1513	c.956T>G	c.(955-957)cTt>cGt	p.L319R	ZFP30_ENST00000514101.2_Missense_Mutation_p.L319R|ZFP30_ENST00000392144.1_Missense_Mutation_p.L319R|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	319					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCAGTATGAAGTTTGTGATG	0.453																																																	0													94	91	92					19																	38126486		2203	4300	6503	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.956T>G	19.37:g.38126486A>C	ENSP00000343581:p.Leu319Arg		Q58EY8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L319R	ENST00000351218.2	37	c.956	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590453	0.46214	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.18016	2.24;2.24;2.24	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31461	N	0.007609	T	0.24699	0.0599	N	0.26162	0.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02457	-1.1156	10	0.87932	D	0	.	7.2759	0.26283	0.8962:0.0:0.1038:0.0	.	319;319	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	R	319;319;319;234	ENSP00000343581:L319R;ENSP00000422930:L319R;ENSP00000375988:L319R	ENSP00000343581:L319R	L	-	2	0	ZFP30	42818326	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.900000	0.28431	1.803000	0.52742	0.533000	0.62120	CTT	ZFP30	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.453	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0	64	0	A	NM_014898		38126486	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.930	C	C	38126486	A	C	38126486	3	2	4	1	0	0	0	0	1	0	0	0	17692	72	3	4	607	4	ZFP30	19	38126486	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	2004438	38126486	21002497	316	1227											
ZNF304	57343	genome.wustl.edu	37	chr19	57868215	57868215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacacttgttcagcatcaGagagttcacactggagaaag	14	8	10	9	0	3	2	3	0	0	2	3	5	3	2	0	1	1	3	0	1	1	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr19:57868215G>T	ENST00000282286.5	+	3	1151	c.978G>T	c.(976-978)caG>caT	p.Q326H	ZNF304_ENST00000443917.2_Missense_Mutation_p.Q373H|ZNF304_ENST00000598744.1_Missense_Mutation_p.Q284H|ZNF304_ENST00000391705.3_Missense_Mutation_p.Q326H			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTCAGCATCAGAGAGTTCACA	0.458																																																	0													74	67	69					19																	57868215		2203	4300	6503	SO:0001583	missense	0			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.978G>T	19.37:g.57868215G>T	ENSP00000282286:p.Gln326His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q326H	ENST00000282286.5	37	c.978	CCDS12950.1	19	.	.	.	.	.	.	.	.	.	.	g	12.62	1.993410	0.35131	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.54479	0.57;0.57;0.57	3.92	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52869	0.1761	M	0.86097	2.795	0.25188	N	0.990155	P;D	0.61080	0.798;0.989	B;B	0.42827	0.245;0.399	T	0.55029	-0.8204	9	0.52906	T	0.07	.	4.1436	0.10205	0.209:0.1957:0.5953:0.0	.	326;373	Q9HCX3;E7EQD3	ZN304_HUMAN;.	H	326;326;373	ENSP00000282286:Q326H;ENSP00000375586:Q326H;ENSP00000401642:Q373H	ENSP00000282286:Q326H	Q	+	3	2	ZNF304	62560027	0.020000	0.18652	0.615000	0.29064	0.991000	0.79684	1.786000	0.38694	1.243000	0.43853	0.580000	0.79431	CAG	ZNF304	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131845		0.458	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF304	HGNC	protein_coding	OTTHUMT00000465785.1		0	59	0	G			57868215	1			no_errors	ENST00000282286	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.993	T	T	57868215	G	T	57868215	3	4	4	1	0	0	0	0	1	0	0	0	17881	933	33	3	988	3	ZNF304	19	57868215	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	19741729	57868215	1260768	317	1228											
AVP	551	genome.wustl.edu	37	chr20	3063287	3063287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcggggctcagtaggcgtCgggctgggcgggctcgaagg	4	5	22	10	6	1	0	1	0	0	0	3	1	1	0	0	7	0	4	0	7	2	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:3063287C>T	ENST00000380293.3	-	3	533	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	162					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		CAGTAGGCGTCGGGCTGGGCG	0.756																																																	0													1	1	1					20																	3063287		668	1534	2202	SO:0001583	missense	0			M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"Endogenous ligands"	894	protein-coding gene	gene with protein product	"antidiuretic hormone", "neurophysin II", "diabetes insipidus", "neurohypophyseal", "prepro-AVP-NP II", "prepro-arginine-vasopressin-neurophysin II"	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.484G>A	20.37:g.3063287C>T	ENSP00000369647:p.Asp162Asn		A0AV35|O14935	Missense_Mutation	SNP	pfam_Neurhyp_horm,superfamily_Neurhyp_horm,smart_Neurhyp_horm,pirsf_Neurhyp_horm,prints_Neurhyp_horm	p.D162N	ENST00000380293.3	37	c.484	CCDS13045.1	20	.	.	.	.	.	.	.	.	.	.	C	7.444	0.641395	0.14451	.	.	ENSG00000101200	ENST00000380293	D	0.96885	-4.16	3.97	1.93	0.25924	.	.	.	.	.	D	0.86661	0.5986	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75382	-0.3337	9	0.02654	T	1	-29.9254	5.2189	0.15358	0.0:0.6228:0.1793:0.1979	.	162	P01185	NEU2_HUMAN	N	162	ENSP00000369647:D162N	ENSP00000369647:D162N	D	-	1	0	AVP	3011287	0.001000	0.12720	0.003000	0.11579	0.044000	0.14063	-0.205000	0.09411	0.378000	0.24764	0.555000	0.69702	GAC	AVP	-	NULL	ENSG00000101200		0.756	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVP	HGNC	protein_coding	OTTHUMT00000077713.2	-	0	26	0	C	NM_000490		3063287	-1	tier1	-	no_errors	ENST00000380293	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.130	T	T	3063287	C	T	3063287	3	4	4	1	0	0	0	0	1	0	0	0	1230	884	31	1	14	1	AVP	20	3063287	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09		3063287	59962233	318	1229											
THBD	7056	genome.wustl.edu	37	chr20	23028837	23028837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccgtgcagatgaaaccGtcgtccaggatgtagccttc	9	10	11	11	3	0	2	0	1	0	1	4	3	2	3	4	1	3	2	4	1	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:23028837G>T	ENST00000377103.2	-	1	1541	c.1305C>A	c.(1303-1305)gaC>gaA	p.D435E		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	435	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	AGATGAAACCGTCGTCCAGGA	0.617																																																	0													60	53	55					20																	23028837		2203	4300	6503	SO:0001583	missense	0				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1305C>A	20.37:g.23028837G>T	ENSP00000366307:p.Asp435Glu		Q8IV29|Q9UC32	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin	p.D435E	ENST00000377103.2	37	c.1305	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.843485	0.00568	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80653	-1.4	4.82	-7.69	0.01263	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Thrombomodulin-like, EGF-like (1);	0.673590	0.13166	N	0.408702	T	0.44993	0.1320	N	0.02379	-0.575	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.26408	T	0.33	-8.8188	2.4186	0.04442	0.1716:0.1341:0.3954:0.2989	.	435	P07204	TRBM_HUMAN	E	435;417	ENSP00000366307:D435E	ENSP00000366307:D435E	D	-	3	2	THBD	22976837	0.000000	0.05858	0.031000	0.17742	0.041000	0.13682	-5.200000	0.00142	-2.116000	0.00830	-2.329000	0.00250	GAC	THBD	-	pirsf_CD93/CD141,pfam_Tme5_EGF-like,smart_EG-like_dom	ENSG00000178726		0.617	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	-	0	70	0	G			23028837	-1	tier1	-	no_errors	ENST00000377103	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.015	T	T	23028837	G	T	23028837	3	4	4	1	0	0	0	0	1	0	0	0	15899	1136	40	2	426	2	THBD	20	23028837	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	19965550	23028837	39996683	319	1230											
CST1	1469	genome.wustl.edu	37	chr20	23728462	23728462	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacagatccctaggattcTtgacacctggatttcaccag	10	10	9	12	0	2	2	1	1	1	1	3	4	3	4	3	3	0	1	3	3	1	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:23728462T>C	ENST00000304749.2	-	3	487	c.417A>G	c.(415-417)caA>caG	p.Q139Q	CST1_ENST00000398402.1_Silent_p.Q139Q	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	139					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CCTAGGATTCTTGACACCTGG	0.587																																																	0													107	92	97					20																	23728462		2203	4300	6503	SO:0001819	synonymous_variant	0			M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.417A>G	20.37:g.23728462T>C			Q96LE6|Q9UCQ6	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.Q139	ENST00000304749.2	37	c.417	CCDS13160.1	20																																																																																			CST1	-	smart_Prot_inh_cystat	ENSG00000170373		0.587	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST1	HGNC	protein_coding	OTTHUMT00000078351.2	-	0	70	0	T	NM_001898		23728462	-1	tier1	-	no_errors	ENST00000304749	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.001	C	C	23728462	T	C	23728462	2	2	4	1	0	0	0	0	0	0	0	1	3979	1606	56	4		4	CST1	20	23728462	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	699625	23728462	39297058	320	1231											
HNF4A	3172	genome.wustl.edu	37	chr20	43048461	43048461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcccttccaggagctGcagatcgatgacaatgagta	10	9	12	10	1	0	3	0	2	0	1	2	5	1	4	2	1	4	4	2	1	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:43048461G>A	ENST00000316099.4	+	7	926	c.837G>A	c.(835-837)ctG>ctA	p.L279L	HNF4A_ENST00000316673.4_Silent_p.L257L|HNF4A_ENST00000415691.2_Silent_p.L279L|HNF4A_ENST00000457232.1_Silent_p.L257L|HNF4A_ENST00000443598.2_Silent_p.L279L|HNF4A_ENST00000609795.1_Silent_p.L257L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	279					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCAGGAGCTGCAGATCGATG	0.557																																					Colon(79;2 1269 8820 14841 52347)												0													172	128	143					20																	43048461		2203	4300	6503	SO:0001819	synonymous_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.837G>A	20.37:g.43048461G>A			A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.L279	ENST00000316099.4	37	c.837	CCDS13330.1	20																																																																																			HNF4A	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	ENSG00000101076		0.557	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	-	0	43	0	G			43048461	1	tier1	-	no_errors	ENST00000316099	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.962	A	A	43048461	G	A	43048461	2	1	4	1	0	0	0	0	0	0	0	1	7280	1306	46	3		3	HNF4A	20	43048461	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	19319999	43048461	19977059	321	1232											
SNX21	90203	genome.wustl.edu	37	chr20	44469672	44469672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccctctggcccagaccGccccctgctgaccctggctg	4	6	9	22	1	1	2	0	1	1	1	1	2	1	2	7	2	1	2	7	2	0	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:44469672G>A	ENST00000491381.1	+	4	910	c.842G>A	c.(841-843)cGc>cAc	p.R281H	SNX21_ENST00000342644.5_Intron|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000372542.1_Missense_Mutation_p.R272H|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	281					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GGCCCAGACCGCCCCCTGCTG	0.682																																																	0													11	13	13					20																	44469672		2192	4277	6469	SO:0001583	missense	0			AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"Sorting nexins", "Tetratricopeptide (TTC) repeat domain containing"	16154	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 161"	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.842G>A	20.37:g.44469672G>A	ENSP00000418593:p.Arg281His		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox	p.R281H	ENST00000491381.1	37	c.842	CCDS13377.1	20	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497599	0.26861	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.62105	0.05;0.05	4.44	3.49	0.39957	Tetratricopeptide-like helical (1);	0.458923	0.22913	N	0.054114	T	0.43743	0.1261	N	0.16478	0.41	0.49213	D	0.999768	B;B	0.14012	0.004;0.009	B;B	0.06405	0.002;0.002	T	0.26883	-1.0090	10	0.33141	T	0.24	-9.7778	11.1973	0.48719	0.0886:0.0:0.9114:0.0	.	272;281	Q5JZH3;Q969T3	.;SNX21_HUMAN	H	281;272	ENSP00000418593:R281H;ENSP00000361620:R272H	ENSP00000361620:R272H	R	+	2	0	SNX21	43903079	0.974000	0.33945	0.961000	0.40146	0.987000	0.75469	1.786000	0.38694	1.097000	0.41459	0.462000	0.41574	CGC	SNX21	-	NULL	ENSG00000124104		0.682	SNX21-010	KNOWN	basic|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000079534.1	-	0	45	0	G	NM_033421		44469672	1	tier1	-	no_errors	ENST00000491381	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.580	A	A	44469672	G	A	44469672	3	1	4	1	0	0	0	0	1	0	0	0	14938	1087	38	1	871	1	SNX21	20	44469672	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	1421211	44469672	18555848	322	1233											
STX16	8675	genome.wustl.edu	37	chr20	57251268	57251268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtatcaaaagaagaatcGgaagatgcttgtgattttaa	17	11	9	4	1	1	4	1	1	0	3	2	5	1	5	0	1	1	2	0	1	7	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:57251268G>A	ENST00000371141.4	+	9	1623	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	STX16_ENST00000359617.4_Missense_Mutation_p.R247Q|STX16_ENST00000355957.5_Missense_Mutation_p.R283Q|STX16_ENST00000361770.5_Missense_Mutation_p.R283Q|STX16_ENST00000361830.3_Missense_Mutation_p.R300Q|STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000371132.4_Missense_Mutation_p.R279Q|STX16_ENST00000358029.4_Missense_Mutation_p.R296Q	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	300					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			AAGAAGAATCGGAAGATGCTT	0.413																																																	0													222	216	218					20																	57251268		2203	4300	6503	SO:0001583	missense	0			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.899G>A	20.37:g.57251268G>A	ENSP00000360183:p.Arg300Gln		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R300Q	ENST00000371141.4	37	c.899	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.678214	0.96764	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000438253;ENST00000435446	T;T;T;T;T;T;T	0.69685	0.47;0.44;-0.42;0.44;0.48;0.45;0.44	5.74	4.77	0.60923	.	.	.	.	.	T	0.82006	0.4943	M	0.85945	2.785	0.53688	D	0.999979	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.74023	0.96;0.982;0.979;0.941	D	0.83408	0.0026	9	0.44086	T	0.13	.	13.3514	0.60603	0.0787:0.0:0.9213:0.0	.	296;283;279;300	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	Q	283;283;247;300;247;279;296;300;194;114	ENSP00000348229:R283Q;ENSP00000355408:R283Q;ENSP00000352634:R247Q;ENSP00000360183:R300Q;ENSP00000360173:R279Q;ENSP00000350723:R296Q;ENSP00000354445:R300Q	ENSP00000360180:R247Q	R	+	2	0	STX16	56684674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.830000	0.75319	1.502000	0.48669	0.563000	0.77884	CGG	STX16	-	NULL	ENSG00000124222		0.413	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16	HGNC	protein_coding	OTTHUMT00000080517.2	-	0	42	0	G	NM_001001433		57251268	1	tier1	-	no_errors	ENST00000361830	ensembl	human	known	74_37	missense	46.05	41	35	SNP	1.000	A	A	57251268	G	A	57251268	3	1	4	1	0	0	0	0	1	0	0	0	15386	1116	39	1	933	1	STX16	20	57251268	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	12781596	57251268	5774252	323	1234											
NPEPL1	79716	genome.wustl.edu	37	chr20	57289051	57289051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgtgtgaaggcgggcAggaagtgtggggacctggtg	6	7	20	8	2	0	1	0	1	0	0	0	3	0	3	3	6	0	1	3	6	2	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:57289051A>G	ENST00000356091.6	+	10	1492	c.1204A>G	c.(1204-1206)Agg>Ggg	p.R402G	NPEPL1_ENST00000525967.1_Missense_Mutation_p.R374G|NPEPL1_ENST00000525817.1_Missense_Mutation_p.R354G|STX16-NPEPL1_ENST00000530122.1_3'UTR|RP11-261P9.4_ENST00000530479.1_RNA	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	402						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GAAGGCGGGCAGGAAGTGTGG	0.657																																																	0													21	30	27					20																	57289051		1921	3871	5792	SO:0001583	missense	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1204A>G	20.37:g.57289051A>G	ENSP00000348395:p.Arg402Gly		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.R402G	ENST00000356091.6	37	c.1204	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871553	0.72065	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.42900	0.96;0.96;0.96	5.67	-3.7	0.04437	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.109197	0.56097	D	0.000033	T	0.53190	0.1781	L	0.57130	1.785	0.46609	D	0.999125	P;P;B	0.37955	0.612;0.558;0.29	P;P;P	0.51945	0.685;0.557;0.491	T	0.59461	-0.7450	10	0.56958	D	0.05	-19.025	19.923	0.97094	0.1955:0.8045:0.0:0.0	.	402;354;374	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	G	374;354;402	ENSP00000434810:R374G;ENSP00000437112:R354G;ENSP00000348395:R402G	ENSP00000348395:R402G	R	+	1	2	NPEPL1	56722458	0.940000	0.31905	0.046000	0.18839	0.845000	0.48019	0.613000	0.24299	-0.752000	0.04728	0.459000	0.35465	AGG	NPEPL1	-	pfam_Peptidase_M17_C	ENSG00000215440		0.657	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0	103	0	A	NM_024663		57289051	1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	49.53	54	53	SNP	0.768	G	G	57289051	A	G	57289051	3	3	4	1	0	0	0	0	1	0	0	0	10613	179	7	4	1088	4	NPEPL1	20	57289051	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	37783	57289051	5736469	324	1235											
ZNF831	128611	genome.wustl.edu	37	chr20	57767649	57767650	+	Frame_Shift_Ins	INS	-	-	T																															ccagggagccccgggaccccINStggtccaggacgcagaagcc																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:57767649_57767650insT	ENST00000371030.2	+	1	1575_1576	c.1575_1576insT	c.(1576-1578)tggfs	p.W526fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	526							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCGGGACCCCTGGTCCAGGAC	0.703																																																	0																																										SO:0001589	frameshift_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1576dupT	20.37:g.57767650_57767650dupT	ENSP00000360069:p.Trp526fs		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W525fs	ENST00000371030.2	37	c.1575_1576	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.703	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2		0	12	0	-	NM_178457		57767650	1	tier1		no_errors	ENST00000371030	ensembl	human	novel	74_37	frame_shift_ins	38.46	8	5	INS	0.000:0.000	T	T	57767650	-	T	57767649	7	5	4	1	0	1	1	0	0	0	0	0	18233	668	24	0	1577	0	ZNF831	20	57767649	Frame_Shift_Ins	INS	-	TCGA-2H-A9GI-01A-11D-A37C-09	478598	57767649	5257871	325	1236											
PPP1R3D	5509	genome.wustl.edu	37	chr20	58514138	58514138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgcgaggcatgtgcagCgcgtggttgcgacatgtgag	6	8	16	11	5	0	1	0	1	0	0	1	3	1	1	2	2	3	3	2	2	0	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:58514138C>T	ENST00000370996.3	-	1	1214	c.849G>A	c.(847-849)gcG>gcA	p.A283A	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	283					dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)	p.A283A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GCATGTGCAGCGCGTGGTTGC	0.657																																																	1	Substitution - coding silent(1)	endometrium(1)											46	47	47					20																	58514138		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9294	protein-coding gene	gene with protein product		603326	"protein phosphatase 1, regulatory (inhibitor) subunit 3D"	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.849G>A	20.37:g.58514138C>T			Q6DK02	Silent	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.A283	ENST00000370996.3	37	c.849	CCDS13483.1	20																																																																																			PPP1R3D	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000132825		0.657	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3D	HGNC	protein_coding	OTTHUMT00000079940.2		0	43	0	C	NM_006242		58514138	-1			no_errors	ENST00000370996	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.026	T	T	58514138	C	T	58514138	2	4	4	1	0	0	0	0	0	0	0	1	12416	755	27	1		1	PPP1R3D	20	58514138	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	746489	58514138	4511382	326	1237											
CDH4	1002	genome.wustl.edu	37	chr20	60427897	60427897	+	Missense_Mutation	SNP	C	C	G																															tcatcgacatgaatgacaacCgccctgagttcatcaaccag																								rs555725508		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:60427897C>G	ENST00000360469.5	+	6	908	c.820C>G	c.(820-822)Cgc>Ggc	p.R274G	CDH4_ENST00000543233.1_Missense_Mutation_p.R200G	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	274	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.			R -> H (in Ref. 1; AAA35627). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R274C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GAATGACAACCGCCCTGAGTT	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											215	168	184					20																	60427897		2203	4300	6503	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.820C>G	20.37:g.60427897C>G	ENSP00000353656:p.Arg274Gly		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.R274G	ENST00000360469.5	37	c.820	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916918	0.33815	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.60797	0.16;0.16	4.76	3.74	0.42951	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.050159	0.85682	D	0.000000	T	0.58018	0.2093	M	0.83483	2.645	0.58432	D	0.999999	B	0.28820	0.224	B	0.20767	0.031	T	0.61802	-0.6988	9	.	.	.	.	14.0449	0.64700	0.206:0.794:0.0:0.0	.	274	P55283	CADH4_HUMAN	G	274;182;200	ENSP00000353656:R274G;ENSP00000443301:R200G	.	R	+	1	0	CDH4	59861292	1.000000	0.71417	0.995000	0.50966	0.580000	0.36256	2.065000	0.41442	2.202000	0.70862	0.561000	0.74099	CGC	CDH4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.567	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	38	0	C	NM_001794		60427897	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.998	G	G	60427897	C	G	60427897	3	3	4	1	0	0	0	0	1	0	0	0	3119	652	23	5	842	5	CDH4	20	60427897	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	1913759	60427897	2597623	327	1238	3	3									
CDH4	1002	genome.wustl.edu	37	chr20	60427900	60427900	+	Missense_Mutation	SNP	C	C	T																															tcgacatgaatgacaaccgcCctgagttcatcaaccaggtc																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:60427900C>T	ENST00000360469.5	+	6	911	c.823C>T	c.(823-825)Cct>Tct	p.P275S	CDH4_ENST00000543233.1_Missense_Mutation_p.P201S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	275	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACAACCGCCCTGAGTTCAT	0.572																																																	0													216	170	186					20																	60427900		2203	4300	6503	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.823C>T	20.37:g.60427900C>T	ENSP00000353656:p.Pro275Ser		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.P275S	ENST00000360469.5	37	c.823	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612775	0.66672	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.84800	-1.9;-1.9	4.76	4.76	0.60689	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92951	0.7757	H	0.99922	4.955	0.80722	D	1	P	0.41848	0.763	B	0.37650	0.255	D	0.95798	0.8830	9	.	.	.	.	17.758	0.88455	0.0:1.0:0.0:0.0	.	275	P55283	CADH4_HUMAN	S	275;183;201	ENSP00000353656:P275S;ENSP00000443301:P201S	.	P	+	1	0	CDH4	59861295	1.000000	0.71417	0.802000	0.32245	0.577000	0.36160	7.549000	0.82163	2.202000	0.70862	0.561000	0.74099	CCT	CDH4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	38	0	C	NM_001794		60427900	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	T	T	60427900	C	T	60427900	3	4	4	1	0	0	0	0	1	0	0	0	3119	623	22	3	845	3	CDH4	20	60427900	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	3	60427900	2597620	328	1239	3	3									
CDH4	1002	genome.wustl.edu	37	chr20	60427902	60427902	+	Silent	SNP	T	T	C																															gacatgaatgacaaccgcccTgagttcatcaaccaggtcta																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr20:60427902T>C	ENST00000360469.5	+	6	913	c.825T>C	c.(823-825)ccT>ccC	p.P275P	CDH4_ENST00000543233.1_Silent_p.P201P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	275	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACAACCGCCCTGAGTTCATCA	0.572																																																	0													216	171	186					20																	60427902		2203	4300	6503	SO:0001819	synonymous_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.825T>C	20.37:g.60427902T>C			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.P275	ENST00000360469.5	37	c.825	CCDS13488.1	20																																																																																			CDH4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.572	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	38	0	T	NM_001794		60427902	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.652	C	C	60427902	T	C	60427902	2	2	4	1	0	0	0	0	0	0	0	1	3119	1567	55	4		4	CDH4	20	60427902	Silent	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	2	60427902	2597618	329	1240	3	3									
TMPRSS15	5651	genome.wustl.edu	37	chr21	19704467	19704467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtatttggctcccacaGctcaaaaggtcctccacagt	9	12	8	12	0	1	0	1	0	0	0	4	0	4	0	3	2	1	4	3	2	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr21:19704467G>T	ENST00000284885.3	-	14	1621	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	530	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTCCCACAGCTCAAAAGGT	0.403																																																	0													129	128	128					21																	19704467		2203	4300	6503	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1588C>A	21.37:g.19704467G>T	ENSP00000284885:p.Leu530Met		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.L530M	ENST00000284885.3	37	c.1588	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376270	0.61735	.	.	ENSG00000154646	ENST00000284885	T	0.20881	2.04	5.43	3.63	0.41609	CUB (5);	0.000000	0.64402	D	0.000005	T	0.48589	0.1508	M	0.86805	2.84	0.40867	D	0.983887	D	0.89917	1.0	D	0.91635	0.999	T	0.53136	-0.8481	9	.	.	.	.	10.5068	0.44839	0.1573:0.0:0.8427:0.0	.	530	P98073	ENTK_HUMAN	M	530	ENSP00000284885:L530M	.	L	-	1	2	TMPRSS15	18626338	0.998000	0.40836	0.819000	0.32651	0.930000	0.56654	1.004000	0.29822	0.780000	0.33566	0.650000	0.86243	CTG	TMPRSS15	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000154646		0.403	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	-	0	48	0	G	NM_002772		19704467	-1	tier1	-	no_errors	ENST00000284885	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.992	T	T	19704467	G	T	19704467	3	4	4	1	0	0	0	0	1	0	0	0	16293	962	34	3	1519	3	TMPRSS15	21	19704467	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		19704467	28425428	330	1241											
LCA5L	150082	genome.wustl.edu	37	chr21	40800302	40800302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaagcattactgttccGtgaaaaatcgcctgtgcctg	10	12	10	9	2	0	1	0	1	0	0	2	2	1	2	3	1	3	2	3	1	4	3	rs370755758		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr21:40800302G>A	ENST00000358268.2	-	4	646	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	LCA5L_ENST00000485895.2_Missense_Mutation_p.R40W|LCA5L_ENST00000380671.2_Missense_Mutation_p.R40W|LCA5L_ENST00000288350.3_Missense_Mutation_p.R40W			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	40										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTACTGTTCCGTGAAAAATCG	0.408																																																	0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	115	110	112		118	-1.4	0	21		112	0,8600		0,0,4300	no	missense	LCA5L	NM_152505.3	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	40/671	40800302	1,13005	2203	4300	6503	SO:0001583	missense	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 13"	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.118C>T	21.37:g.40800302G>A	ENSP00000351008:p.Arg40Trp		D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.R40W	ENST00000358268.2	37	c.118	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852570	0.32699	2.27E-4	0.0	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268;ENST00000418018;ENST00000448288;ENST00000434281;ENST00000438404;ENST00000411566;ENST00000415863;ENST00000426783	T;T;T;T;T;T;T;T;T;T	0.59638	0.25;0.25;0.25;0.66;0.61;0.61;0.6;0.6;0.51;0.44	5.54	-1.44	0.08856	.	0.491121	0.19050	N	0.124065	T	0.33990	0.0882	N	0.25647	0.755	0.09310	N	1	B;B	0.19706	0.015;0.038	B;B	0.12156	0.007;0.007	T	0.12344	-1.0551	10	0.54805	T	0.06	-4.1343	1.5699	0.02612	0.1236:0.1535:0.2794:0.4435	.	40;40	C9JFB6;O95447	.;LCA5L_HUMAN	W	40	ENSP00000288350:R40W;ENSP00000370046:R40W;ENSP00000351008:R40W;ENSP00000404521:R40W;ENSP00000405598:R40W;ENSP00000400086:R40W;ENSP00000405130:R40W;ENSP00000412691:R40W;ENSP00000395593:R40W;ENSP00000414784:R40W	ENSP00000288350:R40W	R	-	1	2	LCA5L	39722172	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.443000	0.02405	-0.501000	0.06605	-1.072000	0.02254	CGG	LCA5L	-	NULL	ENSG00000157578		0.408	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	-	0	38	0	G	NM_152505		40800302	-1	tier1	-	no_errors	ENST00000288350	ensembl	human	known	74_37	missense	30.77	18	8	SNP	0.000	A	A	40800302	G	A	40800302	3	1	4	1	0	0	0	0	1	0	0	0	8685	1144	40	1	1922	1	LCA5L	21	40800302	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	21095835	40800302	7329593	331	1242											
MICAL3	57553	genome.wustl.edu	37	chr22	18310414	18310414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggagtgtttacctccGgaagcagaggactcagaggc	9	7	16	9	1	1	2	1	0	0	2	2	5	2	5	2	5	2	3	2	5	2	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:18310414G>A	ENST00000441493.2	-	22	3541	c.3189C>T	c.(3187-3189)tcC>tcT	p.S1063S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1063	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTTTACCTCCGGAAGCAGAGG	0.652																																																	0													17	21	20					22																	18310414		2000	4139	6139	SO:0001819	synonymous_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3189C>T	22.37:g.18310414G>A			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1063	ENST00000441493.2	37	c.3189	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	G	6.535	0.466976	0.12402	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.95	-3.08	0.05347	.	.	.	.	.	T	0.54013	0.1832	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51513	-0.8696	4	.	.	.	.	9.7672	0.40567	0.2761:0.1254:0.5985:0.0	.	.	.	.	L	45	.	.	P	-	2	0	XXbac-B461K10.4	16690414	0.836000	0.29430	0.907000	0.35723	0.443000	0.32047	-0.041000	0.12084	-0.596000	0.05821	-0.390000	0.06520	CCG	MICAL3	-	NULL	ENSG00000243156		0.652	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0	244	0	G			18310414	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	silent	28.81	83	34	SNP	0.961	A	A	18310414	G	A	18310414	2	1	4	1	0	0	0	0	0	0	0	1	9609	1103	39	1		1	MICAL3	22	18310414	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		18310414	32994152	332	1243											
ARVCF	421	genome.wustl.edu	37	chr22	19960775	19960775	+	Frame_Shift_Del	DEL	C	C	-																															ggtgtcttcctccaggcaggCccccggtcgcggcggagcct																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:19960775delC	ENST00000263207.3	-	14	2596	c.2305delG	c.(2305-2307)gccfs	p.A769fs	ARVCF_ENST00000406522.1_Frame_Shift_Del_p.A700fs|ARVCF_ENST00000406259.1_Frame_Shift_Del_p.A763fs|ARVCF_ENST00000344269.3_Frame_Shift_Del_p.A706fs|ARVCF_ENST00000401994.1_Frame_Shift_Del_p.A706fs	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	769					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCCAGGCAGGCCCCCGGTCGC	0.647																																																	0													27	22	24					22																	19960775		2197	4295	6492	SO:0001589	frameshift_variant	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2305delG	22.37:g.19960775delC	ENSP00000263207:p.Ala769fs		B7WNV2	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A769fs	ENST00000263207.3	37	c.2305	CCDS13771.1	22																																																																																			ARVCF	-	superfamily_ARM-type_fold	ENSG00000099889		0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5		0	47	0	C	NM_001670		19960775	-1	tier1		no_errors	ENST00000263207	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.989	-	-	19960775	C	-	19960775	7	5	4	1	0	1	0	1	0	0	0	0	1004	739	26	0	607	0	ARVCF	22	19960775	Frame_Shift_Del	DEL	C	TCGA-2H-A9GI-01A-11D-A37C-09	1650361	19960775	31343791	333	1244											
MYO18B	84700	genome.wustl.edu	37	chr22	26351222	26351222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggccacctccgagtcccaGcagcgggagagcagccagta	9	3	14	15	3	0	1	0	0	0	1	2	3	2	1	5	2	4	3	5	2	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:26351222G>T	ENST00000407587.2	+	39	6220	c.6051G>T	c.(6049-6051)caG>caT	p.Q2017H	MYO18B_ENST00000536101.1_Missense_Mutation_p.Q2016H|MYO18B_ENST00000335473.7_Missense_Mutation_p.Q2016H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2016	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGAGTCCCAGCAGCGGGAGA	0.662																																																	0													19	24	23					22																	26351222		1943	4140	6083	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6051G>T	22.37:g.26351222G>T	ENSP00000386096:p.Gln2017His		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q2016H	ENST00000407587.2	37	c.6048		22	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718672	0.48622	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87334	-2.22;-2.22;-2.24	4.86	3.83	0.44106	.	0.552403	0.18541	N	0.138192	D	0.82291	0.5005	N	0.22421	0.69	0.37630	D	0.921647	P;P;P;P;P	0.52692	0.797;0.874;0.874;0.955;0.923	B;B;B;P;P	0.47251	0.424;0.322;0.322;0.542;0.521	D	0.86300	0.1679	10	0.87932	D	0	.	13.1412	0.59436	0.0824:0.0:0.9176:0.0	.	1529;2018;2016;2017;2016	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	H	2016;2016;2017	ENSP00000441229:Q2016H;ENSP00000334563:Q2016H;ENSP00000386096:Q2017H	ENSP00000334563:Q2016H	Q	+	3	2	MYO18B	24681222	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	3.261000	0.51530	2.410000	0.81850	0.591000	0.81541	CAG	MYO18B	-	NULL	ENSG00000133454		0.662	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0	91	0	G	NM_032608		26351222	1			no_errors	ENST00000335473	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	26351222	G	T	26351222	3	4	4	1	0	0	0	0	1	0	0	0	10104	962	34	3	6198	3	MYO18B	22	26351222	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	6390447	26351222	24953344	334	1245											
SEZ6L	23544	genome.wustl.edu	37	chr22	26688607	26688607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggaggcccgccccaaGcacgccttgccccccaagaa	10	2	10	19	2	0	2	0	0	0	2	0	3	0	3	8	2	2	1	8	2	3	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:26688607G>A	ENST00000248933.6	+	2	425	c.330G>A	c.(328-330)aaG>aaA	p.K110K	SEZ6L_ENST00000360929.3_Silent_p.K110K|SEZ6L_ENST00000529632.2_Silent_p.K110K|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.K110K|SEZ6L_ENST00000404234.3_Silent_p.K110K|SEZ6L_ENST00000402979.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	110					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCGCCCCAAGCACGCCTTGC	0.642																																																	0													43	36	39					22																	26688607		2203	4300	6503	SO:0001819	synonymous_variant	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.330G>A	22.37:g.26688607G>A			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K110	ENST00000248933.6	37	c.330	CCDS13833.1	22																																																																																			SEZ6L	-	NULL	ENSG00000100095		0.642	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	-	0	134	0	G			26688607	1	tier1	-	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	32.35	69	33	SNP	0.000	A	A	26688607	G	A	26688607	2	1	4	1	0	0	0	0	0	0	0	1	14188	962	34	3		3	SEZ6L	22	26688607	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	337385	26688607	24615959	335	1246											
NEFH	4744	genome.wustl.edu	37	chr22	29884949	29884949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacataaaggtgaaaagCgaagagaagatcaaagtggt	19	6	11	5	1	2	3	2	1	0	2	2	5	2	3	0	2	1	0	0	2	7	1	rs141203874		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:29884949C>A	ENST00000310624.6	+	4	1353	c.1320C>A	c.(1318-1320)agC>agA	p.S440R		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	440	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S440S(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGTGAAAAGCGAAGAGAAGA	0.468																																																	1	Substitution - coding silent(1)	endometrium(1)											81	80	80					22																	29884949		2203	4300	6503	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1320C>A	22.37:g.29884949C>A	ENSP00000311997:p.Ser440Arg		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_IF,pfam_DUF1388	p.S440R	ENST00000310624.6	37	c.1320	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455979	0.43634	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83250	-1.7	6.16	-4.27	0.03744	.	0.000000	0.64402	D	0.000009	D	0.82967	0.5152	M	0.61703	1.905	0.41384	D	0.987571	D	0.65815	0.995	P	0.53593	0.73	T	0.82248	-0.0551	10	0.54805	T	0.06	.	12.962	0.58464	0.091:0.5878:0.0:0.3212	.	440	P12036	NFH_HUMAN	R	440	ENSP00000311997:S440R	ENSP00000311997:S440R	S	+	3	2	NEFH	28214949	0.000000	0.05858	0.659000	0.29680	0.962000	0.63368	-2.410000	0.01040	-0.963000	0.03600	-0.157000	0.13467	AGC	NEFH	-	NULL	ENSG00000100285		0.468	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	-	0	49	0	C	NM_021076		29884949	1	tier1	-	no_errors	ENST00000310624	ensembl	human	known	74_37	missense	41.18	30	21	SNP	0.603	A	A	29884949	C	A	29884949	3	1	4	1	0	0	0	0	1	0	0	0	10353	767	27	2	1334	2	NEFH	22	29884949	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	3196342	29884949	21419617	336	1247											
FBXO7	25793	genome.wustl.edu	37	chr22	32889259	32889259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggtttttatatctgcgtGattttcgaggtgatttccgt	6	18	12	5	3	1	2	0	2	1	0	3	4	2	3	1	3	1	1	1	3	2	7			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:32889259G>A	ENST00000266087.7	+	7	1462	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	FBXO7_ENST00000397426.1_Missense_Mutation_p.D265N|FBXO7_ENST00000382058.3_Missense_Mutation_p.D300N	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	379					cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATCTGCGTGATTTTCGAGG	0.408																																																	0													137	122	127					22																	32889259		2203	4300	6503	SO:0001583	missense	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1135G>A	22.37:g.32889259G>A	ENSP00000266087:p.Asp379Asn		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.D379N	ENST00000266087.7	37	c.1135	CCDS13907.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.176104	0.94846	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.55052	0.54;0.54;0.54	6.08	6.08	0.98989	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.76557	0.4004	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77133	-0.2700	10	0.72032	D	0.01	-25.1878	20.6634	0.99662	0.0:0.0:1.0:0.0	.	379;300;379	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	N	379;300;265	ENSP00000266087:D379N;ENSP00000371490:D300N;ENSP00000380571:D265N	ENSP00000266087:D379N	D	+	1	0	FBXO7	31219259	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.521000	0.81832	2.894000	0.99253	0.655000	0.94253	GAT	FBXO7	-	superfamily_F-box_dom	ENSG00000100225		0.408	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	-	0	101	0	G			32889259	1	tier1	-	no_errors	ENST00000266087	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	A	A	32889259	G	A	32889259	3	1	4	1	0	0	0	0	1	0	0	0	5782	1290	45	3	1202	3	FBXO7	22	32889259	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	3004310	32889259	18415307	337	1248											
TRIOBP	11078	genome.wustl.edu	37	chr22	38151139	38151139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggtgagatcgacctgcGttcctgcacggatgtcactg	7	10	14	10	3	1	1	1	1	0	1	3	5	2	3	2	3	2	2	2	3	0	1	rs376340052		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:38151139G>A	ENST00000406386.3	+	14	5774	c.5519G>A	c.(5518-5520)cGt>cAt	p.R1840H	TRIOBP_ENST00000403663.2_Missense_Mutation_p.R127H|TRIOBP_ENST00000407319.2_Missense_Mutation_p.R127H	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1840	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCGACCTGCGTTCCTGCACG	0.627																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	73	53	60		5519,380,380	4.8	1	22		60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRIOBP	NM_001039141.2,NM_007032.5,NM_138632.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1840/2366,127/653,127/432	38151139	1,13005	2203	4300	6503	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5519G>A	22.37:g.38151139G>A	ENSP00000384312:p.Arg1840His		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1840H	ENST00000406386.3	37	c.5519	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215786	0.79352	0.0	1.16E-4	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000452519;ENST00000417857	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.77	4.77	0.60923	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.95341	0.8488	L	0.48642	1.525	0.41833	D	0.990086	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.95546	0.8616	9	0.49607	T	0.09	.	17.8134	0.88623	0.0:0.0:1.0:0.0	.	127;127;1840	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	H	1840;127;127;86;56;56	ENSP00000384312:R1840H;ENSP00000383913:R127H;ENSP00000386026:R127H;ENSP00000396946:R86H;ENSP00000407542:R56H;ENSP00000387881:R56H	ENSP00000386026:R127H	R	+	2	0	TRIOBP	36481085	0.999000	0.42202	0.992000	0.48379	0.985000	0.73830	3.263000	0.51546	2.182000	0.69389	0.655000	0.94253	CGT	TRIOBP	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000100106		0.627	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0	27	0	G			38151139	1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.993	A	A	38151139	G	A	38151139	3	1	4	1	0	0	0	0	1	0	0	0	16601	1145	40	1	5752	1	TRIOBP	22	38151139	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	5261880	38151139	13153427	338	1249											
DDX17	10521	genome.wustl.edu	37	chr22	38894489	38894489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagcaatgcccaccatatCccggccactaagagccaacg	12	5	8	16	2	0	2	0	1	0	1	1	2	1	2	5	1	4	1	5	1	4	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:38894489C>A	ENST00000396821.3	-	4	727	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	DDX17_ENST00000381633.3_Missense_Mutation_p.D131Y|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	210	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CCCACCATATCCCGGCCACTA	0.443																																					Ovarian(55;1085 1454 6392 21425)												0													124	105	111					22																	38894489		2203	4300	6503	SO:0001583	missense	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.628G>T	22.37:g.38894489C>A	ENSP00000380033:p.Asp210Tyr		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D210Y	ENST00000396821.3	37	c.628	CCDS46706.1	22	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025961	0.93518	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.24723	1.84;1.84;1.84	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72518	0.3470	H	0.99600	4.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85494	0.1187	10	0.87932	D	0	-18.0627	19.5163	0.95167	0.0:1.0:0.0:0.0	.	131;212;210	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	Y	210;131;210;212	ENSP00000380033:D210Y;ENSP00000371046:D131Y;ENSP00000385536:D210Y	ENSP00000371046:D131Y	D	-	1	0	DDX17	37224435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.683000	0.91414	0.591000	0.81541	GAT	DDX17	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000100201		0.443	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000321476.2	-	0	61	0	C	NM_030881		38894489	-1	tier1	-	no_errors	ENST00000396821	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	38894489	C	A	38894489	3	1	4	1	0	0	0	0	1	0	0	0	4353	855	30	3	1607	3	DDX17	22	38894489	Missense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	743350	38894489	12410077	339	1250											
DMC1	11144	genome.wustl.edu	37	chr22	38934571	38934571	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatgccagcttcttcAtggaactttgctgctacata	10	14	8	9	0	2	2	1	1	1	1	2	3	2	3	1	1	6	3	1	1	4	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:38934571A>T	ENST00000216024.2	-	10	909	c.633T>A	c.(631-633)caT>caA	p.H211Q	DMC1_ENST00000428462.2_Missense_Mutation_p.H156Q	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	211					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					CAGCTTCTTCATGGAACTTTG	0.348								Homologous recombination																																									0													133	137	135					22																	38934571		2203	4300	6503	SO:0001583	missense	0			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.633T>A	22.37:g.38934571A>T	ENSP00000216024:p.His211Gln		A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase	p.H211Q	ENST00000216024.2	37	c.633	CCDS13973.1	22	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657455	0.47467	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567	T;T;T	0.64618	-0.11;1.14;1.14	5.6	2.27	0.28462	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	N	0.17082	0.46	0.28695	N	0.90437	B;B	0.21452	0.056;0.056	B;B	0.36418	0.115;0.224	T	0.50276	-0.8847	10	0.54805	T	0.06	-11.3242	9.7466	0.40451	0.8081:0.0:0.1919:0.0	.	156;211	B4DMW6;Q14565	.;DMC1_HUMAN	Q	211;156;156	ENSP00000216024:H211Q;ENSP00000412703:H156Q;ENSP00000391385:H156Q	ENSP00000216024:H211Q	H	-	3	2	DMC1	37264517	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	1.661000	0.37408	0.073000	0.16731	0.477000	0.44152	CAT	DMC1	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase	ENSG00000100206		0.348	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2		0	39	0	A	NM_007068		38934571	-1			no_errors	ENST00000216024	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	38934571	A	T	38934571	3	4	4	1	0	0	0	0	1	0	0	0	4593	214	8	5	409	5	DMC1	22	38934571	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	40082	38934571	12369995	340	1251											
HDAC10	83933	genome.wustl.edu	37	chr22	50685323	50685323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggctccgtgggacaGgcctctccgaacagccacat	7	7	11	16	2	2	0	0	0	2	0	4	2	3	1	5	3	2	1	5	3	1	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:50685323G>T	ENST00000216271.5	-	15	1847	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	HDAC10_ENST00000349505.4_Missense_Mutation_p.L479M|HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000439308.2_5'Flank|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.L449M	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	499					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGTGGGACAGGCCTCTCCGA	0.597																																																	0													42	42	42					22																	50685323		2200	4299	6499	SO:0001583	missense	0			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1495C>A	22.37:g.50685323G>T	ENSP00000216271:p.Leu499Met		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.L499M	ENST00000216271.5	37	c.1495	CCDS14088.1	22	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392140	0.42410	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.36520	1.25;1.25;1.25	5.18	1.86	0.25419	.	0.930262	0.09014	N	0.861159	T	0.53932	0.1827	M	0.73598	2.24	0.23411	N	0.997738	D;D;D;D	0.69078	0.997;0.997;0.996;0.997	D;D;D;D	0.66979	0.948;0.919;0.943;0.919	T	0.31971	-0.9924	10	0.56958	D	0.05	-9.3742	4.9362	0.13941	0.1968:0.1715:0.6318:0.0	.	479;449;499;499	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	M	499;449;479	ENSP00000216271:L499M;ENSP00000397542:L449M;ENSP00000343540:L479M	ENSP00000216271:L499M	L	-	1	2	HDAC10	49027450	0.005000	0.15991	0.004000	0.12327	0.099000	0.18886	0.418000	0.21230	0.297000	0.22615	0.655000	0.94253	CTG	HDAC10	-	NULL	ENSG00000100429		0.597	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC10	HGNC	protein_coding	OTTHUMT00000104141.4	-	0	47	0	G	NM_032019		50685323	-1	tier1	-	no_errors	ENST00000216271	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.017	T	T	50685323	G	T	50685323	3	4	4	1	0	0	0	0	1	0	0	0	7032	991	35	3	538	3	HDAC10	22	50685323	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	11750752	50685323	619243	341	1252											
LMF2	91289	genome.wustl.edu	37	chr22	50942069	50942069	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagacagctgagagcgagtCcagtggagggcctgggccag	9	4	19	9	1	0	2	0	1	0	2	1	6	1	3	3	4	2	1	3	4	0	0			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chr22:50942069C>T	ENST00000474879.2	-	14	1890	c.1875G>A	c.(1873-1875)tgG>tgA	p.W625*	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Nonsense_Mutation_p.W600*|LMF2_ENST00000380796.3_Nonsense_Mutation_p.W512*	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	625						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAGCGAGTCCAGTGGAGGG	0.672																																																	0													17	23	21					22																	50942069		2192	4279	6471	SO:0001587	stop_gained	0			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1875G>A	22.37:g.50942069C>T	ENSP00000424381:p.Trp625*		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Nonsense_Mutation	SNP	pfam_LMF	p.W625*	ENST00000474879.2	37	c.1875	CCDS14093.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.956536|3.956536	0.73902|0.73902	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000487499|ENST00000380796;ENST00000474879;ENST00000216080	.|.	.|.	.|.	5.33|5.33	4.3|4.3	0.51218|0.51218	.|.	.|0.316296	.|0.31772	.|N	.|0.007086	T|.	0.57946|.	0.2088|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53180|.	-0.8475|.	4|.	.|0.32370	.|T	.|0.25	-0.0108|-0.0108	9.2902|9.2902	0.37782|0.37782	0.0:0.9035:0.0:0.0965|0.0:0.9035:0.0:0.0965	.|.	.|.	.|.	.|.	N|X	632|512;625;600	.|.	.|ENSP00000216080:W600X	D|W	-|-	1|3	0|0	LMF2|LMF2	49288935|49288935	0.020000|0.020000	0.18652|0.18652	0.732000|0.732000	0.30844|0.30844	0.008000|0.008000	0.06430|0.06430	1.124000|1.124000	0.31320|0.31320	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GAC|TGG	LMF2	-	NULL	ENSG00000100258		0.672	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	-	0	83	0	C	NM_033200		50942069	-1	tier1	-	no_errors	ENST00000474879	ensembl	human	known	74_37	nonsense	28.57	55	22	SNP	0.425	T	T	50942069	C	T	50942069	4	4	4	1	0	0	0	0	0	1	0	0	8876	856	30	3	252	3	LMF2	22	50942069	Nonsense_Mutation	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09	256746	50942069	362497	342	1253											
GYG2	8908	genome.wustl.edu	37	chrX	2773102	2773102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccggaccccggatggccGgattgcttcaatagcggggt	6	7	15	13	4	1	0	1	0	0	0	1	3	1	3	5	6	2	1	5	6	2	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:2773102G>A	ENST00000381163.3	+	6	768	c.486G>A	c.(484-486)ccG>ccA	p.P162P	GYG2-AS1_ENST00000445107.1_RNA|GYG2_ENST00000398806.3_Silent_p.P131P|GYG2_ENST00000338623.5_Silent_p.P162P|GYG2_ENST00000542787.1_Silent_p.P162P|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	162					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGGATGGCCGGATTGCTTCA	0.567																																																	0													107	90	96					X																	2773102		2203	4299	6502	SO:0001819	synonymous_variant	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.486G>A	X.37:g.2773102G>A			B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	pfam_Glyco_trans_8	p.P162	ENST00000381163.3	37	c.486	CCDS14121.1	X																																																																																			GYG2	-	pfam_Glyco_trans_8	ENSG00000056998		0.567	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	-	0	45	0	G	NM_003918		2773102	1	tier1	-	no_errors	ENST00000381163	ensembl	human	known	74_37	silent	63.64	8	14	SNP	0.111	A	A	2773102	G	A	2773102	2	1	4	1	0	0	0	0	0	0	0	1	6933	1103	39	1		1	GYG2	23	2773102	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09		2773102	152497458	343	1254											
TXLNG	55787	genome.wustl.edu	37	chrX	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-																															agaagctgatgaaaaacatcAgagagagagagagtttgtaa																										TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"lipopolysaccharide specific response-5 protein", "factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"	300677	"chromosome X open reading frame 15"	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs		Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	pfam_Taxilin_fam	p.R326fs	ENST00000380122.5	37	c.968_969	CCDS14178.1	X																																																																																			TXLNG	-	pfam_Taxilin_fam	ENSG00000086712		0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1		0	48	0	AG	NM_018360		16850850	1	tier1		no_errors	ENST00000380122	ensembl	human	known	74_37	frame_shift_del	14.29	18	3	DEL	1.000:1.000	-	-	16850850	AG	-	16850849	7	5	4	1	0	1	0	1	0	0	0	0	16838	188	7	0	990	0	TXLNG	23	16850849	Frame_Shift_Del	DEL	AG	TCGA-2H-A9GI-01A-11D-A37C-09	14077747	16850849	138419711	344	1255											
CACNA1F	778	genome.wustl.edu	37	chrX	49069170	49069170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaatgtgcggatccctTcacccttactgagaagcttg	10	10	10	11	1	1	2	1	1	0	2	2	4	2	3	2	1	4	2	2	1	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:49069170T>C	ENST00000376265.2	-	33	3993	c.3932A>G	c.(3931-3933)gAa>gGa	p.E1311G	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1246G|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1300G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1311					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGGATCCCTTCACCCTTACT	0.542																																																	0													68	59	62					X																	49069170		2203	4300	6503	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3932A>G	X.37:g.49069170T>C	ENSP00000365441:p.Glu1311Gly		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1311G	ENST00000376265.2	37	c.3932	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900913	0.72754	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98835	-5.17;-5.17;-5.17	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	M	0.90705	3.14	0.58432	D	0.999999	D;P	0.89917	1.0;0.901	D;P	0.85130	0.997;0.865	D	0.99418	1.0932	10	0.87932	D	0	.	12.4118	0.55471	0.0:0.0:0.0:1.0	.	1300;1311	F5CIQ9;O60840	.;CAC1F_HUMAN	G	1246;1300;1311	ENSP00000365427:E1246G;ENSP00000321618:E1300G;ENSP00000365441:E1311G	ENSP00000321618:E1300G	E	-	2	0	CACNA1F	48956114	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.982000	0.88131	1.565000	0.49641	0.430000	0.28490	GAA	CACNA1F	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000102001		0.542	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1		0	35	0	T	NM_005183		49069170	-1			no_errors	ENST00000376265	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	C	C	49069170	T	C	49069170	3	2	4	1	0	0	0	0	1	0	0	0	2550	1783	62	4	2065	4	CACNA1F	23	49069170	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	32218321	49069170	106201390	345	1256											
MSN	4478	genome.wustl.edu	37	chrX	64956699	64956699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagcgtgaaatggcagaGaaggagaaagagaagattga	20	4	15	2	1	0	7	0	2	0	5	0	10	0	7	0	2	1	1	0	2	6	1	rs113359990		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:64956699G>A	ENST00000360270.5	+	9	1174	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	334					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E334E(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						aaatggcagagaaggagaaag	0.483			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	2	Substitution - coding silent(2)	lung(1)|endometrium(1)											103	86	92					X																	64956699		2189	4265	6454	SO:0001819	synonymous_variant	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1002G>A	X.37:g.64956699G>A				Silent	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E334	ENST00000360270.5	37	c.1002	CCDS14382.1	X																																																																																			MSN	-	pirsf_ERM	ENSG00000147065		0.483	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0	22	0	G	NM_002444		64956699	1			no_errors	ENST00000360270	ensembl	human	known	74_37	silent	9.09	30	3	SNP	1.000	A	A	64956699	G	A	64956699	2	1	4	1	0	0	0	0	0	0	0	1	9923	933	33	3		3	MSN	23	64956699	Silent	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	15887529	64956699	90313861	346	1257											
MSN	4478	genome.wustl.edu	37	chrX	64956743	64956743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaggagctgatggAgaggctgaagcagatcgagg	13	4	20	4	1	0	5	0	2	0	3	1	10	0	7	0	6	2	3	0	6	2	0	rs200135811		TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:64956743A>G	ENST00000360270.5	+	9	1218	c.1046A>G	c.(1045-1047)gAg>gGg	p.E349G		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	349					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E349G(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						gagctgatggagaggctgaag	0.493			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	skin(1)											105	84	91					X																	64956743		2203	4299	6502	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1046A>G	X.37:g.64956743A>G	ENSP00000353408:p.Glu349Gly			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E349G	ENST00000360270.5	37	c.1046	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	A	15.36	2.810728	0.50421	.	.	ENSG00000147065	ENST00000360270	D	0.83837	-1.77	4.56	3.39	0.38822	Ezrin/radixin/moesin, C-terminal (1);	0.283599	0.40385	N	0.001109	D	0.83431	0.5253	M	0.85945	2.785	0.58432	D	0.999995	B	0.27229	0.172	B	0.36186	0.219	T	0.77338	-0.2625	10	0.34782	T	0.22	.	5.9609	0.19299	0.8811:0.0:0.1189:0.0	.	349	P26038	MOES_HUMAN	G	349	ENSP00000353408:E349G	ENSP00000353408:E349G	E	+	2	0	MSN	64873468	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	6.780000	0.75063	0.705000	0.31890	0.481000	0.45027	GAG	MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.493	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0	31	0	A	NM_002444		64956743	1			no_errors	ENST00000360270	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	G	G	64956743	A	G	64956743	3	3	4	1	0	0	0	0	1	0	0	0	9923	304	11	4	1080	4	MSN	23	64956743	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	44	64956743	90313817	347	1258											
MAGEE1	57692	genome.wustl.edu	37	chrX	75650295	75650295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagtttttctggggcccaAgatcccacctagaaaccacc	11	9	8	13	0	1	3	0	1	1	2	2	3	2	3	5	2	1	1	5	2	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:75650295A>G	ENST00000361470.2	+	1	2250	c.1972A>G	c.(1972-1974)Aga>Gga	p.R658G		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	658	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGGGGCCCAAGATCCCACCT	0.423																																																	0													42	39	40					X																	75650295		2203	4300	6503	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1972A>G	X.37:g.75650295A>G	ENSP00000354912:p.Arg658Gly		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R658G	ENST00000361470.2	37	c.1972	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	A	7.488	0.650080	0.14516	.	.	ENSG00000198934	ENST00000361470	T	0.22743	1.94	2.34	-2.27	0.06846	.	.	.	.	.	T	0.47783	0.1464	M	0.92026	3.265	0.09310	N	1	D	0.65815	0.995	D	0.70016	0.967	T	0.36311	-0.9753	9	0.72032	D	0.01	.	8.2952	0.31982	0.41:0.59:0.0:0.0	.	658	Q9HCI5	MAGE1_HUMAN	G	658	ENSP00000354912:R658G	ENSP00000354912:R658G	R	+	1	2	MAGEE1	75566699	0.924000	0.31332	0.034000	0.17996	0.317000	0.28152	-0.147000	0.10234	-0.761000	0.04670	-0.387000	0.06579	AGA	MAGEE1	-	pfam_MAGE,pfscan_MAGE	ENSG00000198934		0.423	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0	27	0	A	NM_020932		75650295	1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.025	G	G	75650295	A	G	75650295	3	3	4	1	0	0	0	0	1	0	0	0	9223	64	3	4	1974	4	MAGEE1	23	75650295	Missense_Mutation	SNP	A	TCGA-2H-A9GI-01A-11D-A37C-09	10693552	75650295	79620265	348	1259											
SAGE1	55511	genome.wustl.edu	37	chrX	134992321	134992321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcatccatgagtaccaGggatcagtgtaagtttattc	10	15	9	7	0	2	1	2	1	0	0	4	2	3	2	2	1	1	4	2	1	3	6			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:134992321G>A	ENST00000370709.3	+	14	1856	c.1856G>A	c.(1855-1857)aGg>aAg	p.R619K	SAGE1_ENST00000324447.3_Missense_Mutation_p.R619K|SAGE1_ENST00000537770.1_Missense_Mutation_p.R243K|SAGE1_ENST00000535938.1_Missense_Mutation_p.R619K			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	619						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATGAGTACCAGGGATCAGTGT	0.388																																																	0													143	122	129					X																	134992321		2203	4300	6503	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1856G>A	X.37:g.134992321G>A	ENSP00000359743:p.Arg619Lys		Q5JNW0	Missense_Mutation	SNP	NULL	p.R619K	ENST00000370709.3	37	c.1856	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026889	0.35797	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.38722	1.12;1.12;1.2;1.12	0.869	0.869	0.19096	.	0.078401	0.52532	U	0.000077	T	0.42585	0.1209	L	0.29908	0.895	0.09310	N	1	P;D	0.58268	0.917;0.982	P;P	0.60682	0.611;0.878	T	0.17684	-1.0361	9	0.56958	D	0.05	.	.	.	.	.	243;619	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	K	619;619;243;619	ENSP00000323191:R619K;ENSP00000445959:R619K;ENSP00000438276:R243K;ENSP00000359743:R619K	ENSP00000323191:R619K	R	+	2	0	SAGE1	134819987	0.009000	0.17119	0.087000	0.20705	0.070000	0.16714	0.207000	0.17395	0.701000	0.31803	0.171000	0.16805	AGG	SAGE1	-	NULL	ENSG00000181433		0.388	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	-	0	43	0	G	NM_018666		134992321	1	tier1	-	no_errors	ENST00000324447	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.085	A	A	134992321	G	A	134992321	3	1	4	1	0	0	0	0	1	0	0	0	13854	1000	35	3	1910	3	SAGE1	23	134992321	Missense_Mutation	SNP	G	TCGA-2H-A9GI-01A-11D-A37C-09	59342026	134992321	20278239	349	1260											
MAGEC3	139081	genome.wustl.edu	37	chrX	140985396	140985396	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgctcctccacgttatgaaTttttgtggggtccaagagcc	7	13	11	10	1	0	2	0	1	0	1	3	2	3	2	4	2	2	2	4	2	3	3			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:140985396T>G	ENST00000298296.1	+	8	1728				MAGEC3_ENST00000544766.1_Missense_Mutation_p.F320V|MAGEC3_ENST00000409007.1_Missense_Mutation_p.F320V|MAGEC3_ENST00000443323.2_Missense_Mutation_p.F240V|MAGEC3_ENST00000536088.1_Missense_Mutation_p.F320V	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3											NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTTATGAATTTTTGTGGGG	0.483																																																	0													64	67	66					X																	140985396		2203	4300	6503	SO:0001627	intron_variant	0			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 2"	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1729-19T>G	X.37:g.140985396T>G			Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F320V	ENST00000298296.1	37	c.958	CCDS14676.1	X	.	.	.	.	.	.	.	.	.	.	t	11.65	1.702997	0.30232	.	.	ENSG00000165509	ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T	0.04758	3.56;3.56;3.56;3.56	1.25	1.25	0.21368	.	.	.	.	.	T	0.26268	0.0641	H	0.96015	3.755	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06534	-1.0821	8	.	.	.	.	4.2608	0.10740	0.0:0.0:0.0:1.0	.	320	Q3SYA7	.	V	320;240;320;320	ENSP00000441107:F320V;ENSP00000438254:F240V;ENSP00000440444:F320V;ENSP00000386566:F320V	.	F	+	1	0	MAGEC3	140813062	0.067000	0.21026	0.006000	0.13384	0.029000	0.11900	1.809000	0.38922	0.737000	0.32582	0.235000	0.17854	TTT	MAGEC3	-	pfam_MAGE,pfscan_MAGE	ENSG00000165509		0.483	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	-	0	44	0	T	NM_138702		140985396	1	tier1	-	no_errors	ENST00000536088	ensembl	human	known	74_37	missense	45.45	24	20	SNP	0.006	G	G	140985396	T	G	140985396	1	3	4	0	1	0	0	0	0	0	0	0	9220	1493	52	4		4	MAGEC3	23	140985396	Intron	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	5993075	140985396	14285164	350	1261											
SLITRK4	139065	genome.wustl.edu	37	chrX	142718596	142718596	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgttcaagtgcaactgcTttaatgcactgagcccaaga	11	12	9	9	0	1	2	1	1	0	1	1	2	1	2	1	0	5	5	1	0	4	4			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrX:142718596T>G	ENST00000381779.4	-	2	554	c.329A>C	c.(328-330)aAg>aCg	p.K110T	SLITRK4_ENST00000338017.4_Missense_Mutation_p.K110T|SLITRK4_ENST00000356928.1_Missense_Mutation_p.K110T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	110						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCAACTGCTTTAATGCACT	0.413																																																	0													69	66	67					X																	142718596		2203	4300	6503	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.329A>C	X.37:g.142718596T>G	ENSP00000371198:p.Lys110Thr		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K110T	ENST00000381779.4	37	c.329	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770962	0.49680	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.56611	0.45;0.45;0.45	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.39085	1.19	0.58432	D	0.999999	D	0.63880	0.993	P	0.59288	0.855	T	0.58014	-0.7711	10	0.41790	T	0.15	-12.2729	13.5168	0.61545	0.0:0.0:0.0:1.0	.	110	Q8IW52	SLIK4_HUMAN	T	110	ENSP00000371198:K110T;ENSP00000349400:K110T;ENSP00000336627:K110T	ENSP00000336627:K110T	K	-	2	0	SLITRK4	142546262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.289000	0.72696	1.876000	0.54355	0.486000	0.48141	AAG	SLITRK4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000179542		0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0	54	0	T	NM_173078		142718596	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	45.45	24	20	SNP	1.000	G	G	142718596	T	G	142718596	3	3	4	1	0	0	0	0	1	0	0	0	14790	1609	56	4	2188	4	SLITRK4	23	142718596	Missense_Mutation	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	1733200	142718596	12551964	351	1262											
TSPY2	64591	genome.wustl.edu	37	chrY	6114771	6114771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcgccgtcatccagagCgtccctggcttctgggccaa	7	7	13	14	3	2	2	1	0	1	2	4	2	4	2	4	3	1	1	4	3	1	1			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrY:6114771C>T	ENST00000320701.4	+	1	508	c.462C>T	c.(460-462)agC>agT	p.S154S	TSPY2_ENST00000383042.1_Silent_p.S154S	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	154					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				liver(1)|lung(4)|prostate(1)|skin(1)	7						TCATCCAGAGCGTCCCTGGCT	0.592																																																	0																																										SO:0001819	synonymous_variant	0			AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.462C>T	Y.37:g.6114771C>T				Silent	SNP	pfam_NAP_family	p.S154	ENST00000320701.4	37	c.462	CCDS35465.1	Y																																																																																			TSPY2	-	pfam_NAP_family	ENSG00000168757		0.592	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPY2	HGNC	protein_coding	OTTHUMT00000098313.1	-	0	12	0	C	NM_022573		6114771	1	tier1	-	no_errors	ENST00000320701	ensembl	human	known	74_37	silent	66.67	2	4	SNP	0.775	T	T	6114771	C	T	6114771	2	4	4	1	0	0	0	0	0	0	0	1	16706	767	27	1		1	TSPY2	24	6114771	Silent	SNP	C	TCGA-2H-A9GI-01A-11D-A37C-09		6114771	53258795	352	1263											
NLGN4Y	22829	genome.wustl.edu	37	chrY	16936229	16936229	+	3'UTR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcctcctgtgtcagcctgTtgaccctgtcccactactca	5	11	9	16	0	2	1	2	1	0	0	4	1	4	1	5	1	2	1	5	1	1	2			TCGA-2H-A9GI-01A-11D-A37C-09	TCGA-2H-A9GI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e1398379-1db8-45d7-8512-843ee72e41e4	318a6760-71e3-46d3-a95e-9ea2e338161b	g.chrY:16936229T>A	ENST00000476359.1	+	0	1332							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TGTCAGCCTGTTGACCCTGTC	0.552																																																	0													39	43	42					Y																	16936229		605	1956	2561	SO:0001624	3_prime_UTR_variant	0				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*1329T>A	Y.37:g.16936229T>A			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	pfam_CarbesteraseB,prints_Neuroligin	p.L320M	ENST00000476359.1	37	c.958		Y																																																																																			NLGN4Y	-	pfam_CarbesteraseB	ENSG00000165246		0.552	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2	-	0	84	0	T	NM_014893		16936229	1	tier1	-	no_errors	ENST00000382868	ensembl	human	known	74_37	missense	55.77	23	29	SNP	1.000	A	A	16936229	T	A	16936229	1	1	4	0	1	0	0	0	0	0	0	0	10504	1722	60	5		5	NLGN4Y	24	16936229	3'UTR	SNP	T	TCGA-2H-A9GI-01A-11D-A37C-09	10821458	16936229	42437337	353	1264											
CLSTN1	22883	genome.wustl.edu	37	chr1	9804495	9804495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtctccttcttcctgcCgaatggcccatgtctcatcc	6	14	6	15	1	3	0	1	0	3	0	7	1	5	0	5	1	1	0	5	1	2	3	rs377706199		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:9804495C>G	ENST00000377298.4	-	8	1984	c.1192G>C	c.(1192-1194)Ggc>Cgc	p.G398R	CLSTN1_ENST00000361311.4_Missense_Mutation_p.G388R|CLSTN1_ENST00000377288.3_Missense_Mutation_p.G398R	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	398					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTCTTCCTGCCGAATGGCCCA	0.567																																																	0								C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	100	81	87		1192,1162	4.6	0.3	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLSTN1	NM_001009566.1,NM_014944.3	125,125	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	398/982,388/972	9804495	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1192G>C	1.37:g.9804495C>G	ENSP00000366513:p.Gly398Arg		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G398R	ENST00000377298.4	37	c.1192	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	C	4.424	0.078351	0.08485	0.0	1.16E-4	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.55	4.64	0.57946	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.239107	0.41605	D	0.000856	T	0.66277	0.2773	N	0.12182	0.205	0.43179	D	0.994999	D;D;D	0.59357	0.985;0.981;0.985	D;P;D	0.63033	0.91;0.855;0.91	T	0.63585	-0.6604	10	0.06757	T	0.87	-44.2982	8.9695	0.35897	0.0:0.7885:0.0:0.2115	.	398;388;398	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	R	398;388;218;398;398	ENSP00000366513:G398R;ENSP00000354997:G388R;ENSP00000401934:G218R;ENSP00000366502:G398R	ENSP00000354997:G388R	G	-	1	0	CLSTN1	9727082	0.983000	0.35010	0.311000	0.25182	0.110000	0.19582	2.543000	0.45752	1.336000	0.45506	0.655000	0.94253	GGC	CLSTN1	-	superfamily_ConA-like_lec_gl_sf	ENSG00000171603		0.567	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	-	0	41	0	C			9804495	-1	tier1	-	no_errors	ENST00000377298	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.700	G	G	9804495	C	G	9804495	3	3	5	1	0	0	0	0	1	0	0	0	3568	652	23	5	1801	5	CLSTN1	1	9804495	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		9804495	239446126	1	1265											
C1orf135	79000	genome.wustl.edu	37	chr1	26164014	26164014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctccaggaaggagtgttAgcattttggtgcctggtttg	6	16	13	6	0	1	0	0	0	1	0	2	2	1	2	2	4	2	3	2	4	2	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:26164014A>G	ENST00000374298.3	-	2	164	c.110T>C	c.(109-111)cTa>cCa	p.L37P	AUNIP_ENST00000538789.1_Missense_Mutation_p.L37P|AUNIP_ENST00000481602.1_5'UTR	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	37					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AAGGAGTGTTAGCATTTTGGT	0.368																																																	0													112	112	112					1																	26164014		2203	4300	6503	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.110T>C	1.37:g.26164014A>G	ENSP00000363416:p.Leu37Pro		C9EI59|Q53F70	Missense_Mutation	SNP	NULL	p.L37P	ENST00000374298.3	37	c.110	CCDS266.1	1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.674968	0.29783	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.58652	0.32;0.32	5.28	4.16	0.48862	.	0.372480	0.19452	N	0.113902	T	0.46464	0.1394	L	0.35854	1.095	0.54753	D	0.999987	B	0.32203	0.36	B	0.34385	0.181	T	0.44283	-0.9338	10	0.56958	D	0.05	0.6161	7.7549	0.28919	0.9071:0.0:0.0929:0.0	.	37	Q9H7T9	CA135_HUMAN	P	37	ENSP00000443647:L37P;ENSP00000363416:L37P	ENSP00000363416:L37P	L	-	2	0	C1orf135	26036601	0.968000	0.33430	0.992000	0.48379	0.750000	0.42670	1.295000	0.33377	1.033000	0.39918	0.533000	0.62120	CTA	AUNIP	-	NULL	ENSG00000127423		0.368	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	-	0	56	0	A	NM_024037		26164014	-1	tier1	-	no_errors	ENST00000538789	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.953	G	G	26164014	A	G	26164014	3	3	5	1	0	0	0	0	1	0	0	0	2006	420	15	4	971	4	C1orf135	1	26164014	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	16359519	26164014	223086607	2	1266											
YTHDF2	51441	genome.wustl.edu	37	chr1	29070268	29070268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaatggaagggtcgttttGatgtcaggtggatttttgtg	9	15	14	3	1	1	1	1	1	0	0	2	3	1	3	0	4	0	1	0	4	2	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:29070268G>A	ENST00000373812.3	+	4	1848	c.1486G>A	c.(1486-1488)Gat>Aat	p.D496N	YTHDF2_ENST00000541996.1_Missense_Mutation_p.D446N|YTHDF2_ENST00000542507.1_Missense_Mutation_p.D496N|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	496	Interaction with m6A-containing mRNAs.|YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTCGTTTTGATGTCAGGTG	0.498																																																	0													85	83	84					1																	29070268		1916	4132	6048	SO:0001583	missense	0			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1486G>A	1.37:g.29070268G>A	ENSP00000362918:p.Asp496Asn		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.D496N	ENST00000373812.3	37	c.1486	CCDS41296.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465264	0.84425	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.29397	1.57;1.57;1.57	5.93	5.93	0.95920	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.39245	1.2	0.80722	D	1	P;P	0.51653	0.947;0.947	P;P	0.55508	0.777;0.777	T	0.02404	-1.1164	9	.	.	.	.	19.1161	0.93340	0.0:0.0:1.0:0.0	.	496;496	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	N	496;496;446;496	ENSP00000444660:D496N;ENSP00000362918:D496N;ENSP00000439394:D446N	.	D	+	1	0	YTHDF2	28942855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.764000	0.98949	2.816000	0.96949	0.643000	0.83706	GAT	YTHDF2	-	pfam_YTH_domain,pfscan_YTH_domain	ENSG00000198492		0.498	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1	-	0	91	0	G	NM_016258		29070268	1	tier1	-	no_errors	ENST00000373812	ensembl	human	known	74_37	missense	27.10	78	29	SNP	1.000	A	A	29070268	G	A	29070268	3	1	5	1	0	0	0	0	1	0	0	0	17548	1290	45	3	1500	3	YTHDF2	1	29070268	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	2906254	29070268	220180353	3	1267											
SPOCD1	90853	genome.wustl.edu	37	chr1	32256601	32256601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggggggcctctgccaaGcagagattccccttggagct	6	9	13	13	0	2	1	0	0	2	1	3	3	3	2	4	4	3	2	4	4	1	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:32256601G>A	ENST00000360482.2	-	16	3383	c.3254C>T	c.(3253-3255)gCt>gTt	p.A1085V	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.A565V|SPOCD1_ENST00000533231.1_Missense_Mutation_p.A1072V|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1085					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCTCTGCCAAGCAGAGATTCC	0.682																																																	0													20	22	21					1																	32256601		2201	4298	6499	SO:0001583	missense	0			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3254C>T	1.37:g.32256601G>A	ENSP00000353670:p.Ala1085Val		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.A1085V	ENST00000360482.2	37	c.3254	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092390	0.55968	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231	T;T;T;T	0.58797	0.33;1.47;0.31;1.49	4.88	3.95	0.45737	.	.	.	.	.	T	0.61248	0.2332	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.941;0.965	T	0.65034	-0.6266	9	0.72032	D	0.01	-0.6941	11.7574	0.51882	0.0:0.1786:0.8214:0.0	.	1072;508;1085	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	V	565;1085;508;1072	ENSP00000257100:A565V;ENSP00000353670:A1085V;ENSP00000399778:A508V;ENSP00000435851:A1072V	ENSP00000257100:A565V	A	-	2	0	SPOCD1	32029188	0.002000	0.14202	0.991000	0.47740	0.412000	0.31113	0.934000	0.28910	1.345000	0.45676	0.655000	0.94253	GCT	SPOCD1	-	NULL	ENSG00000134668		0.682	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1		0	77	0	G	NM_144569		32256601	-1			no_errors	ENST00000360482	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	A	A	32256601	G	A	32256601	3	1	5	1	0	0	0	0	1	0	0	0	15125	971	34	3	400	3	SPOCD1	1	32256601	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	3186333	32256601	216994020	4	1268											
CLCA2	9635	genome.wustl.edu	37	chr1	86909573	86909573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttctagttacgtggcAggccagtggtcctcctgaga	7	13	12	9	1	1	1	0	1	1	1	3	2	3	1	3	3	1	3	3	3	3	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:86909573A>G	ENST00000370565.4	+	10	1754	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	531					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GTTACGTGGCAGGCCAGTGGT	0.388																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													148	135	139					1																	86909573		2203	4300	6503	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1592A>G	1.37:g.86909573A>G	ENSP00000359596:p.Gln531Arg		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.Q531R	ENST00000370565.4	37	c.1592	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	A	7.202	0.593738	0.13875	.	.	ENSG00000137975	ENST00000370565	T	0.28454	1.61	5.66	3.31	0.37934	Domain of unknown function DUF1973 (1);	0.154869	0.43579	D	0.000554	T	0.10594	0.0259	M	0.72894	2.215	0.21020	N	0.9998	B	0.16603	0.018	B	0.21917	0.037	T	0.36768	-0.9734	10	0.16896	T	0.51	-0.0672	3.7002	0.08379	0.6607:0.1373:0.0705:0.1314	.	531	Q9UQC9	CLCA2_HUMAN	R	531	ENSP00000359596:Q531R	ENSP00000359596:Q531R	Q	+	2	0	CLCA2	86682161	0.478000	0.25917	0.258000	0.24420	0.040000	0.13550	1.601000	0.36773	0.414000	0.25790	0.528000	0.53228	CAG	CLCA2	-	pfam_DUF1973,tigrfam_CaCC_prot	ENSG00000137975		0.388	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	-	0	64	0	A	NM_006536		86909573	1	tier1	-	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	43.10	33	25	SNP	0.413	G	G	86909573	A	G	86909573	3	3	5	1	0	0	0	0	1	0	0	0	3465	188	7	4	1630	4	CLCA2	1	86909573	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	54652972	86909573	162341048	5	1269											
GBP6	163351	genome.wustl.edu	37	chr1	89849781	89849781	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagcccaactgaaggagaAgctgcagatggagagagaac	16	4	13	8	0	0	5	0	1	0	4	0	8	0	5	1	2	5	2	1	2	5	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:89849781A>C	ENST00000370456.4	+	10	1691	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T	GBP6_ENST00000535065.1_Missense_Mutation_p.K403T	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	533					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTGAAGGAGAAGCTGCAGATG	0.488																																																	0													106	92	97					1																	89849781		2203	4300	6503	SO:0001583	missense	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1598A>C	1.37:g.89849781A>C	ENSP00000359485:p.Lys533Thr		A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.K533T	ENST00000370456.4	37	c.1598	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.184928	0.57909	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.02916	4.11;4.11	5.13	3.97	0.46021	Guanylate-binding protein, C-terminal (3);	0.251673	0.34245	N	0.004133	T	0.09202	0.0227	M	0.93283	3.4	0.28945	N	0.890777	D	0.89917	1.0	D	0.83275	0.996	T	0.19418	-1.0306	10	0.87932	D	0	-25.931	5.8061	0.18440	0.657:0.175:0.0:0.1681	.	533	Q6ZN66	GBP6_HUMAN	T	504;533;403	ENSP00000359485:K533T;ENSP00000442530:K403T	ENSP00000359485:K533T	K	+	2	0	GBP6	89622369	1.000000	0.71417	0.434000	0.26772	0.078000	0.17371	2.894000	0.48640	0.759000	0.33084	0.482000	0.46254	AAG	GBP6	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000183347		0.488	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	-	0	46	0	A	NM_198460		89849781	1	tier1	-	no_errors	ENST00000370456	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.972	C	C	89849781	A	C	89849781	3	2	5	1	0	0	0	0	1	0	0	0	6303	72	3	4	1632	4	GBP6	1	89849781	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	2940208	89849781	159400840	6	1270											
DPH5	51611	genome.wustl.edu	37	chr1	101456097	101456097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttctcccaagtccacaGtgcacatttgccttaaagtg	10	12	8	11	0	1	0	0	0	1	0	3	0	2	0	3	1	2	2	3	1	3	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:101456097G>T	ENST00000370109.3	-	8	837	c.725C>A	c.(724-726)aCt>aAt	p.T242N	DPH5_ENST00000427040.2_Missense_Mutation_p.T3N|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.T241N|AC093157.1_ENST00000593496.1_Missense_Mutation_p.V31L|DPH5_ENST00000488176.1_Missense_Mutation_p.T242N	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	242					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CAAGTCCACAGTGCACATTTG	0.458																																																	0													132	128	129					1																	101456097		2039	4197	6236	SO:0001583	missense	0			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"DPH5 homolog (S. cerevisiae)"			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.725C>A	1.37:g.101456097G>T	ENSP00000359127:p.Thr242Asn		A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	p.T242N	ENST00000370109.3	37	c.725	CCDS41358.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926460	0.52759	.	.	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000427040;ENST00000342173;ENST00000488176	.	.	.	5.85	5.85	0.93711	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (1);	0.104592	0.64402	D	0.000002	T	0.26340	0.0643	N	0.22421	0.69	0.39316	D	0.965161	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.17319	-1.0373	9	0.07813	T	0.8	-13.8287	17.9364	0.89013	0.0:0.0:1.0:0.0	.	242;241	Q9H2P9;A8JZY6	DPH5_HUMAN;.	N	242;241;191;3;241;242	.	ENSP00000339630:T241N	T	-	2	0	DPH5	101228685	0.999000	0.42202	0.743000	0.31040	0.873000	0.50193	5.266000	0.65525	2.773000	0.95371	0.655000	0.94253	ACT	DPH5	-	superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	ENSG00000117543		0.458	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	HGNC	protein_coding	OTTHUMT00000029881.1	-	0	85	0	G	NM_015958		101456097	-1	tier1	-	no_errors	ENST00000370109	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.815	T	T	101456097	G	T	101456097	3	4	5	1	0	0	0	0	1	0	0	0	4737	1029	36	3	136	3	DPH5	1	101456097	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	11606316	101456097	147794524	7	1271											
AP4B1	10717	genome.wustl.edu	37	chr1	114443011	114443011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggccccattggtccAgttttgacattctatccaaa	9	12	7	13	0	1	1	0	1	1	0	3	1	3	1	5	2	1	1	5	2	2	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:114443011A>T	ENST00000369569.1	-	5	909	c.629T>A	c.(628-630)cTg>cAg	p.L210Q	AP4B1_ENST00000256658.4_Missense_Mutation_p.L210Q|AP4B1_ENST00000462591.1_5'Flank|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.L42Q|AP4B1_ENST00000369566.3_Missense_Mutation_p.L117Q	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	210					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTGGTCCAGTTTTGACAT	0.413																																																	0													52	49	50					1																	114443011		2203	4300	6503	SO:0001583	missense	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"beta 4 subunit of AP-4"	607245	"spastic paraplegia 47"	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.629T>A	1.37:g.114443011A>T	ENSP00000358582:p.Leu210Gln		B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.L210Q	ENST00000369569.1	37	c.629	CCDS865.1	1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149883	0.57151	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.39056	1.67;1.67;1.67;1.1;1.67;1.67;1.67	5.26	5.26	0.73747	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.466719	0.22181	N	0.063506	T	0.48241	0.1489	L	0.44542	1.39	0.50467	D	0.999877	D;D;D;D	0.76494	0.995;0.997;0.999;0.997	D;D;D;D	0.74023	0.926;0.968;0.982;0.968	T	0.52147	-0.8614	10	0.66056	D	0.02	.	15.4827	0.75539	1.0:0.0:0.0:0.0	.	117;42;210;111	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	Q	42;210;210;117;135;42;210	ENSP00000358580:L42Q;ENSP00000358582:L210Q;ENSP00000256658:L210Q;ENSP00000358579:L117Q;ENSP00000358577:L135Q;ENSP00000393622:L42Q;ENSP00000358584:L210Q	ENSP00000256658:L210Q	L	-	2	0	AP4B1	114244534	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	4.782000	0.62396	2.114000	0.64651	0.459000	0.35465	CTG	AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4	ENSG00000134262		0.413	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1		0	14	0	A	NM_006594		114443011	-1			no_errors	ENST00000256658	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.996	T	T	114443011	A	T	114443011	3	4	5	1	0	0	0	0	1	0	0	0	751	188	7	5	1614	5	AP4B1	1	114443011	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	12986914	114443011	134807610	8	1272											
FLG	2312	genome.wustl.edu	37	chr1	152278979	152278979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacccctgccttcctcCtctgcttgaccccgggtgtc	2	12	10	17	1	1	1	0	1	1	0	4	1	3	1	7	2	3	2	7	2	1	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:152278979C>T	ENST00000368799.1	-	3	8418	c.8383G>A	c.(8383-8385)Gga>Aga	p.G2795R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2795	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCTTCCTCCTCTGCTTGAC	0.592									Ichthyosis																																								0													256	350	318					1																	152278979		2193	4296	6489	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8383G>A	1.37:g.152278979C>T	ENSP00000357789:p.Gly2795Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G2795R	ENST00000368799.1	37	c.8383	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778710	0.31502	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00745	5.75	4.2	-8.4	0.00965	.	.	.	.	.	T	0.00241	0.0007	L	0.46157	1.445	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.42378	-0.9455	9	0.31617	T	0.26	.	3.9348	0.09301	0.1234:0.4975:0.1245:0.2546	.	2795	P20930	FILA_HUMAN	R	2795;57	ENSP00000357789:G2795R	ENSP00000357786:G57R	G	-	1	0	FLG	150545603	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.822000	0.01711	-1.446000	0.01945	0.306000	0.20318	GGA	FLG	-	NULL	ENSG00000143631		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	114	0	C	NM_002016		152278979	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	23.24	142	43	SNP	0.000	T	T	152278979	C	T	152278979	3	4	5	1	0	0	0	0	1	0	0	0	5944	690	24	3	3806	3	FLG	1	152278979	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	37835968	152278979	96971642	9	1273											
ZBTB7B	51043	genome.wustl.edu	37	chr1	154988714	154988714	+	Frame_Shift_Del	DEL	C	C	-																															aggaacgacaagctgaagatCcacatgcggaagcacacggg																								rs138318069		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:154988714delC	ENST00000368426.3	+	4	1310	c.1173delC	c.(1171-1173)atcfs	p.I391fs	ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.I391fs|ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.I391fs|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.I425fs	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	391					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCTGAAGATCCACATGCGGA	0.627																																																	0													88	79	82					1																	154988714		2203	4300	6503	SO:0001589	frameshift_variant	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1173delC	1.37:g.154988714delC	ENSP00000357411:p.Ile391fs		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H426fs	ENST00000368426.3	37	c.1275	CCDS1081.1	1																																																																																			ZBTB7B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160685		0.627	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1		0	22	0	C	NM_015872		154988714	1	tier1		no_errors	ENST00000417934	ensembl	human	known	74_37	frame_shift_del	25.81	23	8	DEL	1.000	-	-	154988714	C	-	154988714	7	5	5	1	0	1	0	1	0	0	0	0	17602	845	30	0	1179	0	ZBTB7B	1	154988714	Frame_Shift_Del	DEL	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2709735	154988714	94261907	10	1274											
SPTA1	6708	genome.wustl.edu	37	chr1	158617433	158617433	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggcctcattcagctccatTttctgtctctgcaggtcctc	5	14	7	15	0	4	0	2	0	2	0	8	0	6	0	3	2	2	2	3	2	0	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:158617433T>C	ENST00000368147.4	-	27	3972	c.3792A>G	c.(3790-3792)aaA>aaG	p.K1264K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1264					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGCTCCATTTTCTGTCTCT	0.547																																																	0													94	95	95					1																	158617433		1978	4167	6145	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3792A>G	1.37:g.158617433T>C			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K1264	ENST00000368147.4	37	c.3792	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	34	0	T	NM_003126		158617433	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	25.40	47	16	SNP	0.000	C	C	158617433	T	C	158617433	2	2	5	1	0	0	0	0	0	0	0	1	15163	1838	64	4		4	SPTA1	1	158617433	Silent	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	3628719	158617433	90633188	11	1275											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200818158	200818158	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaatggtgcatcttaGgatgaaactagaagaaaaga	17	9	10	5	0	2	5	0	2	2	3	2	6	2	6	0	2	2	1	0	2	7	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:200818158G>C	ENST00000236925.4	+	12	2343	c.2294G>C	c.(2293-2295)aGg>aCg	p.R765T	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.R754T|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.R738T			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	765					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.R754M(1)									GTGCATCTTAGGATGAAACTA	0.463																																																	1	Substitution - Missense(1)	ovary(1)											74	80	78					1																	200818158		2203	4300	6503	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2294G>C	1.37:g.200818158G>C	ENSP00000236925:p.Arg765Thr		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.R765T	ENST00000236925.4	37	c.2294		1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950697	0.53186	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.70045	-0.45;-0.45;-0.45	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.68317	2.08	0.58432	D	0.999994	D;P;D	0.56035	0.974;0.911;0.969	P;P;P	0.56916	0.678;0.649;0.809	T	0.75323	-0.3358	10	0.42905	T	0.14	-17.2843	13.4879	0.61377	0.0752:0.0:0.9248:0.0	.	738;765;754	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	T	754;738;765	ENSP00000351684:R754T;ENSP00000416800:R738T;ENSP00000236925:R765T	ENSP00000236925:R765T	R	+	2	0	CAMSAP1L1	199084781	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	4.948000	0.63590	2.527000	0.85204	0.484000	0.47621	AGG	CAMSAP2	-	NULL	ENSG00000118200		0.463	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0	31	0	G	NM_203459		200818158	1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	61.76	13	21	SNP	1.000	C	C	200818158	G	C	200818158	3	2	5	1	0	0	0	0	1	0	0	0	2619	1000	35	5	2303	5	CAMSAP1L1	1	200818158	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	42200725	200818158	48432463	12	1276											
GPATCH2	55105	genome.wustl.edu	37	chr1	217793695	217793695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccgttttctccctctcCttttccttgcctggcgtttc	1	18	5	17	2	2	0	0	0	2	0	7	0	4	0	6	1	1	2	6	1	0	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:217793695C>G	ENST00000366935.3	-	2	313	c.203G>C	c.(202-204)aGg>aCg	p.R68T	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R68T	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	68					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCTCCCTCTCCTTTTCCTTGC	0.488																																																	0													137	121	126					1																	217793695		2203	4300	6503	SO:0001583	missense	0			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "G patch domain containing"	25499	protein-coding gene	gene with protein product	"cancer/testis antigen 110", "protein phosphatase 1, regulatory subunit 30"			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.203G>C	1.37:g.217793695C>G	ENSP00000355902:p.Arg68Thr		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.R68T	ENST00000366935.3	37	c.203	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253424	0.80135	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.64438	0.37;-0.1	5.69	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.70275	2.135	0.47949	D	0.999551	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.75422	-0.3323	10	0.30078	T	0.28	-14.537	14.8834	0.70550	0.0:0.9309:0.0:0.0691	.	68;68	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	T	68	ENSP00000355902:R68T;ENSP00000355901:R68T	ENSP00000355901:R68T	R	-	2	0	GPATCH2	215860318	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	7.440000	0.80464	1.401000	0.46761	-0.216000	0.12614	AGG	GPATCH2	-	NULL	ENSG00000092978		0.488	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	-	0	114	0	C	NM_018040		217793695	-1	tier1	-	no_errors	ENST00000366935	ensembl	human	known	74_37	missense	46.67	48	42	SNP	1.000	G	G	217793695	C	G	217793695	3	3	5	1	0	0	0	0	1	0	0	0	6617	681	24	5	1419	5	GPATCH2	1	217793695	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	16975537	217793695	31456926	13	1277											
OBSCN	84033	genome.wustl.edu	37	chr1	228467602	228467602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctgtcctgcgacttcCggccagcccccaaggctgtg	4	9	12	16	2	0	0	0	0	0	0	3	1	3	0	6	3	2	1	6	3	1	1	rs375061154		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:228467602C>T	ENST00000422127.1	+	28	7521	c.7477C>T	c.(7477-7479)Cgg>Tgg	p.R2493W	OBSCN_ENST00000570156.2_Missense_Mutation_p.R2922W|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2493W|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1340W	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2493	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCGACTTCCGGCCAGCCCC	0.622																																																	0									TRP/ARG,TRP/ARG	0,4240		0,0,2120	23	28	26		7477,7477	-0.6	1	1		26	1,8455		0,1,4227	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	101,101	0,1,6347	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging,probably-damaging	2493/7969,2493/6621	228467602	1,12695	2120	4228	6348	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7477C>T	1.37:g.228467602C>T	ENSP00000409493:p.Arg2493Trp		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R2493W	ENST00000422127.1	37	c.7477	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	c	14.58	2.578776	0.46006	0.0	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.68025	-0.3;-0.3;-0.3	5.01	-0.552	0.11818	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443096	0.23100	N	0.051936	T	0.77260	0.4104	M	0.69185	2.1	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.73708	0.965;0.802;0.981	T	0.78545	-0.2163	10	0.72032	D	0.01	.	14.179	0.65562	0.4323:0.5677:0.0:0.0	.	2493;2493;2493	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	W	2493;2493;1340;192	ENSP00000284548:R2493W;ENSP00000409493:R2493W;ENSP00000352613:R1340W	ENSP00000284548:R2493W	R	+	1	2	OBSCN	226534225	0.951000	0.32395	0.983000	0.44433	0.884000	0.51177	0.863000	0.27913	-0.031000	0.13781	0.550000	0.68814	CGG	OBSCN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154358		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	53	0	C	NM_052843		228467602	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	47.17	28	25	SNP	0.226	T	T	228467602	C	T	228467602	3	4	5	1	0	0	0	0	1	0	0	0	10851	643	23	1	7583	1	OBSCN	1	228467602	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	10673907	228467602	20783019	14	1278											
FMN2	56776	genome.wustl.edu	37	chr1	240519210	240519210	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacaatttattattcaaggTaaattccaaagagatgtgtt	16	14	7	4	0	1	1	1	0	0	1	2	3	2	1	1	1	1	2	1	1	8	7			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr1:240519210T>C	ENST00000319653.9	+	14	5088		c.e14+2		FMN2_ENST00000545751.1_Splice_Site	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2						cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.?(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTATTCAAGGTAAATTCCAAA	0.308																																																	1	Unknown(1)	prostate(1)											63	58	59					1																	240519210		2203	4300	6503	SO:0001630	splice_region_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4858+2T>C	1.37:g.240519210T>C			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Splice_Site	SNP	-	e14+2	ENST00000319653.9	37	c.4858+2	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207005	0.79127	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0678	0.80897	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMN2	238585833	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	5.380000	0.66202	2.281000	0.76405	0.533000	0.62120	.	FMN2	-	-	ENSG00000155816		0.308	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	48	0	T	XM_371352	Intron	240519210	1			no_errors	ENST00000319653	ensembl	human	known	74_37	splice_site	6.67	28	2	SNP	1.000	C	C	240519210	T	C	240519210	5	2	5	1	0	0	0	0	0	0	1	0	5972	1652	57	4	4914	4	FMN2	1	240519210	Splice_Site	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	12051608	240519210	8731411	15	1279											
KIDINS220	57498	genome.wustl.edu	37	chr2	8919862	8919864	+	In_Frame_Del	DEL	ACC	ACC	-																															catctaatccatcgatgatgAccaccagccttgtctgattc																										TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:8919862_8919864delACC	ENST00000256707.3	-	18	2491_2493	c.2310_2312delGGT	c.(2308-2313)gtggtc>gtc	p.770_771VV>V	KIDINS220_ENST00000418530.1_In_Frame_Del_p.728_729VV>V|KIDINS220_ENST00000473731.1_In_Frame_Del_p.770_771VV>V|KIDINS220_ENST00000427284.1_In_Frame_Del_p.770_771VV>V|KIDINS220_ENST00000319688.5_In_Frame_Del_p.771_772VV>V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	770	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCGATGATGACCACCAGCCTTG	0.458																																																	0																																										SO:0001651	inframe_deletion	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2310_2312delGGT	2.37:g.8919865_8919867delACC	ENSP00000256707:p.Val771del		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	In_Frame_Del	DEL	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V771in_frame_del	ENST00000256707.3	37	c.2312_2310	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.458	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0	67	0	ACC	NM_020738		8919864	-1	tier1		no_errors	ENST00000256707	ensembl	human	known	74_37	in_frame_del	15.85	69	13	DEL	0.999:1.000:0.989	-	-	8919864	ACC	-	8919862	7	5	5	1	0	1	0	1	0	0	0	0	8298	275	10	0	3055	0	KIDINS220	2	8919862	In_Frame_Del	DEL	ACC	TCGA-2H-A9GJ-01A-11D-A37C-09		8919862	234279511	16	1280											
NRXN1	9378	genome.wustl.edu	37	chr2	51149818	51149818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgcccatcatcaggtgCgccagaccttgaagggaaac	10	7	12	12	2	2	2	2	1	0	1	3	3	2	3	3	3	2	0	3	3	2	1	rs201027928		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:51149818C>T	ENST00000406316.2	-	4	2274	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NRXN1_ENST00000404971.1_Silent_p.A299A|NRXN1_ENST00000405581.1_Silent_p.A266A|NRXN1_ENST00000406859.3_Silent_p.A266A|NRXN1_ENST00000402717.3_Silent_p.A266A|NRXN1_ENST00000405472.3_Silent_p.A266A|NRXN1_ENST00000401669.2_Silent_p.A266A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	266					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A300A(1)|p.A299A(1)|p.A266A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCAGGTGCGCCAGACCTT	0.483																																																	3	Substitution - coding silent(3)	endometrium(3)						C	,	2,4106		0,2,2052	79	78	78		897,798	4.3	1	2		78	0,8352		0,0,4176	no	coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4	,	0,2,6228	TT,TC,CC		0.0,0.0487,0.0161	,	299/1548,266/1478	51149818	2,12458	2054	4176	6230	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.798G>A	2.37:g.51149818C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A266	ENST00000406316.2	37	c.798	CCDS54360.1	2																																																																																			NRXN1	-	NULL	ENSG00000179915		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2		0	36	0	C			51149818	-1			no_errors	ENST00000402717	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	51149818	C	T	51149818	2	4	5	1	0	0	0	0	0	0	0	1	10704	755	27	1		1	NRXN1	2	51149818	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	42229956	51149818	192049555	17	1281											
TGFA	7039	genome.wustl.edu	37	chr2	70680449	70680449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactcacagtgttttcggaCctggcagcagctgcaaagac	10	8	10	13	1	1	1	1	0	0	1	2	2	1	2	2	2	3	5	2	2	1	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:70680449C>T	ENST00000295400.6	-	5	623	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	AC017084.1_ENST00000401177.2_RNA|TGFA_ENST00000445399.1_Missense_Mutation_p.V125I|TGFA_ENST00000450929.1_Missense_Mutation_p.V131I|TGFA_ENST00000444975.1_Missense_Mutation_p.V132I|TGFA_ENST00000418333.2_Missense_Mutation_p.V125I	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	126					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						TGTTTTCGGACCTGGCAGCAG	0.642																																																	0													56	64	62					2																	70680449		2203	4300	6503	SO:0001583	missense	0				CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.376G>A	2.37:g.70680449C>T	ENSP00000295400:p.Val126Ile		A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.V126I	ENST00000295400.6	37	c.376	CCDS1905.1	2	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711303	0.30322	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.87	3.7	0.42460	.	0.460210	0.22834	N	0.055074	T	0.04770	0.0129	N	0.04880	-0.145	0.23506	N	0.99753	B;B;B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.09377	0.004;0.003;0.001;0.001;0.001;0.0;0.0	T	0.41502	-0.9505	10	0.08599	T	0.76	.	4.4167	0.11459	0.0:0.6107:0.2078:0.1815	.	131;132;125;126;125;125;126	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	I	126;125;125;131;132	ENSP00000295400:V126I;ENSP00000387493:V125I;ENSP00000404099:V125I;ENSP00000414127:V131I;ENSP00000404131:V132I	ENSP00000295400:V126I	V	-	1	0	TGFA	70533957	0.989000	0.36119	1.000000	0.80357	0.990000	0.78478	0.422000	0.21296	1.601000	0.50113	0.655000	0.94253	GTC	TGFA	-	NULL	ENSG00000163235		0.642	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TGFA	HGNC	protein_coding	OTTHUMT00000251870.2	-	0	70	0	C			70680449	-1	tier1	-	no_errors	ENST00000295400	ensembl	human	known	74_37	missense	37.68	43	26	SNP	1.000	T	T	70680449	C	T	70680449	3	4	5	1	0	0	0	0	1	0	0	0	15862	507	18	3	114	3	TGFA	2	70680449	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	19530631	70680449	172518924	18	1282											
AFF3	3899	genome.wustl.edu	37	chr2	100210284	100210284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccacgctcgtccccagCgcgtccgcggccgcgggctc	4	4	12	21	8	0	0	0	0	0	0	4	0	2	0	6	2	1	2	6	2	0	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:100210284C>T	ENST00000409236.2	-	13	1951	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A	AFF3_ENST00000356421.2_Silent_p.A638A|AFF3_ENST00000317233.4_Silent_p.A613A|AFF3_ENST00000409579.1_Silent_p.A638A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	613					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTCCCCAGCGCGTCCGCGG	0.731																																																	0													17	21	20					2																	100210284		2188	4274	6462	SO:0001819	synonymous_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1839G>A	2.37:g.100210284C>T			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	pfam_TF_AF4/FMR2	p.A638	ENST00000409236.2	37	c.1914	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.731	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0	15	0	C	NM_002285		100210284	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.000	T	T	100210284	C	T	100210284	2	4	5	1	0	0	0	0	0	0	0	1	358	755	27	1		1	AFF3	2	100210284	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	29529835	100210284	142989089	19	1283											
YSK4	80122	genome.wustl.edu	37	chr2	135744302	135744302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttctgagaaagtcttgTtctgatattgctcttcctct	6	21	6	8	0	5	2	0	2	5	1	6	3	6	2	1	0	1	2	1	0	2	8			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:135744302T>C	ENST00000375845.3	-	7	2170	c.2140A>G	c.(2140-2142)Aca>Gca	p.T714A	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.T601A|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.T731A	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	714							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GAAAGTCTTGTTCTGATATTG	0.373																																																	0													134	130	131					2																	135744302		2203	4300	6503	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2140A>G	2.37:g.135744302T>C	ENSP00000365005:p.Thr714Ala		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T714A	ENST00000375845.3	37	c.2140	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	T	2.402	-0.337398	0.05278	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72505	-0.5;-0.5;1.89;-0.66	5.61	-5.13	0.02884	.	1.060120	0.07351	N	0.882360	T	0.48241	0.1489	N	0.12746	0.255	0.09310	N	0.999995	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.14578	0.002;0.011;0.001	T	0.32375	-0.9909	10	0.23302	T	0.38	.	11.0133	0.47675	0.0902:0.5204:0.0:0.3895	.	601;731;714	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	A	714;601;731;104	ENSP00000365005:T714A;ENSP00000351140:T601A;ENSP00000376647:T731A;ENSP00000392827:T104A	ENSP00000351140:T601A	T	-	1	0	YSK4	135460772	0.011000	0.17503	0.001000	0.08648	0.314000	0.28054	-0.865000	0.04250	-1.107000	0.03004	0.418000	0.28097	ACA	MAP3K19	-	NULL	ENSG00000176601		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	-	0	53	0	T	NM_025052		135744302	-1	tier1	-	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	57.81	27	37	SNP	0.000	C	C	135744302	T	C	135744302	3	2	5	1	0	0	0	0	1	0	0	0	17544	1725	60	4	1862	4	YSK4	2	135744302	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	35534018	135744302	107455071	20	1284											
GALNT5	11227	genome.wustl.edu	37	chr2	158115162	158115162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcagtacacatgggaCgtgtcagtttaaaacaggag	16	9	10	6	1	2	0	2	0	0	0	2	2	2	2	0	2	2	2	0	2	5	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:158115162C>T	ENST00000259056.4	+	1	1053	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	190					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R190C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACACATGGGACGTGTCAGTTT	0.483																																																	1	Substitution - Missense(1)	endometrium(1)											51	54	53					2																	158115162		2203	4300	6503	SO:0001583	missense	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.568C>T	2.37:g.158115162C>T	ENSP00000259056:p.Arg190Cys		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R190C	ENST00000259056.4	37	c.568	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797727	0.31777	.	.	ENSG00000136542	ENST00000259056	T	0.58652	0.32	4.83	0.175	0.15045	.	2.283130	0.01645	N	0.024279	T	0.34600	0.0903	N	0.08118	0	0.09310	N	1	B	0.29909	0.261	B	0.27796	0.083	T	0.26052	-1.0114	10	0.59425	D	0.04	.	0.9487	0.01371	0.4123:0.2537:0.129:0.205	.	190	Q7Z7M9	GALT5_HUMAN	C	190	ENSP00000259056:R190C	ENSP00000259056:R190C	R	+	1	0	GALNT5	157823408	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.351000	0.07711	-0.077000	0.12752	0.655000	0.94253	CGT	GALNT5	-	NULL	ENSG00000136542		0.483	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2		0	26	0	C	NM_014568		158115162	1			no_errors	ENST00000259056	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	T	T	158115162	C	T	158115162	3	4	5	1	0	0	0	0	1	0	0	0	6241	536	19	1	570	1	GALNT5	2	158115162	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	22370860	158115162	85084211	21	1285											
CD302	9936	genome.wustl.edu	37	chr2	160637480	160637480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtataaaagcattttcttCttcattatgtatgcttatca	12	18	4	7	0	4	0	2	0	2	0	4	0	4	0	0	0	2	4	0	0	6	9			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:160637480C>T	ENST00000259053.4	-	3	251	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	LY75_ENST00000554112.1_Missense_Mutation_p.E1711K|CD302_ENST00000429078.2_Missense_Mutation_p.E70K|CD302_ENST00000480212.1_5'UTR|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1655K|LY75_ENST00000553424.1_Missense_Mutation_p.E1655K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1711K	NM_001198764.1|NM_014880.4	NP_001185693.1|NP_055695.2	Q8IX05	CD302_HUMAN	CD302 molecule	70	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				phagocytosis (GO:0006909)	cell cortex (GO:0005938)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GCATTTTCTTCTTCATTATGT	0.323																																																	0													114	106	109					2																	160637480		2203	4300	6503	SO:0001583	missense	0			AY314007	CCDS33308.1, CCDS56139.1, CCDS74595.1	2q24.2	2011-08-30	2006-03-28		ENSG00000241399	ENSG00000241399		"CD molecules", "C-type lectin domain containing"	30843	protein-coding gene	gene with protein product	"C-type lectin domain family 13, member A"	612246	"CD302 antigen"			7584026, 7584028	Standard	NM_014880		Approved	DCL-1, KIAA0022, BIMLEC, CLEC13A		Q8IX05	OTTHUMG00000154080	ENST00000259053.4:c.208G>A	2.37:g.160637480C>T	ENSP00000259053:p.Glu70Lys		A8K5G4|B4E2T9|Q15009	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.E1711K	ENST00000259053.4	37	c.5131	CCDS33308.1	2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963771	0.92791	.	.	ENSG00000241399;ENSG00000241399;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000259053;ENST00000429078;ENST00000554112;ENST00000553424;ENST00000504764;ENST00000505052	T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06	5.21	5.21	0.72293	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.070662	0.52532	D	0.000064	T	0.49098	0.1537	M	0.78049	2.395	0.32427	N	0.548501	D;D;D;D	0.89917	0.998;0.994;0.994;1.0	D;D;D;D	0.75484	0.968;0.938;0.938;0.986	T	0.58836	-0.7566	10	0.49607	T	0.09	-30.1279	17.9247	0.88979	0.0:1.0:0.0:0.0	.	70;1655;1711;70	B4E2T9;O60449-3;O60449-2;Q8IX05	.;.;.;CD302_HUMAN	K	70;70;1711;1655;1711;1655	ENSP00000259053:E70K;ENSP00000394301:E70K;ENSP00000451511:E1711K;ENSP00000451446:E1655K;ENSP00000423463:E1711K;ENSP00000421035:E1655K	ENSP00000259053:E70K	E	-	1	0	LY75;CD302;LY75-CD302	160345726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.211000	0.42825	2.593000	0.87608	0.655000	0.94253	GAA	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.323	CD302-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000333760.1	-	0	54	0	C	NM_014880		160637480	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	26.25	58	21	SNP	1.000	T	T	160637480	C	T	160637480	3	4	5	1	0	0	0	0	1	0	0	0	3010	922	32	3	506	3	CD302	2	160637480	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2522318	160637480	82561893	22	1286											
CFLAR	8837	genome.wustl.edu	37	chr2	202028664	202028664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctggctgcagcacactCtgagaaagaaacttatcctc	12	10	8	11	0	2	2	0	1	2	2	4	3	3	2	1	1	3	3	1	1	3	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:202028664C>A	ENST00000309955.3	+	10	1926	c.1411C>A	c.(1411-1413)Ctg>Atg	p.L471M	CFLAR_ENST00000341582.6_Missense_Mutation_p.L436M|CFLAR_ENST00000443227.1_Missense_Mutation_p.L375M|CFLAR_ENST00000423241.2_Missense_Mutation_p.L471M|CFLAR_ENST00000355558.4_Silent_p.L300L	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	471	Interaction with TRAF1 and TRAF2.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GCAGCACACTCTGAGAAAGAA	0.478																																					Pancreas(16;548 657 22190 32864 42338)												0													83	79	80					2																	202028664		2203	4300	6503	SO:0001583	missense	0			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.1411C>A	2.37:g.202028664C>A	ENSP00000312455:p.Leu471Met		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_ICE_p20	p.L471M	ENST00000309955.3	37	c.1411	CCDS2337.1	2	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414687	0.42817	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341582;ENST00000423241	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.62	4.75	0.60458	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.64402	D	0.000001	T	0.35248	0.0925	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.22103	-1.0226	10	0.87932	D	0	-8.4668	12.5761	0.56365	0.0:0.9222:0.0:0.0778	.	436;471	O15519-8;O15519	.;CFLAR_HUMAN	M	471;375;436;471	ENSP00000312455:L471M;ENSP00000413270:L375M;ENSP00000345807:L436M;ENSP00000399420:L471M	ENSP00000312455:L471M	L	+	1	2	CFLAR	201736909	0.847000	0.29606	0.983000	0.44433	0.025000	0.11179	1.368000	0.34216	1.381000	0.46364	0.561000	0.74099	CTG	CFLAR	-	smart_Pept_C14A_p45_core	ENSG00000003402		0.478	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CFLAR	HGNC	protein_coding	OTTHUMT00000256276.3	-	0	27	0	C	NM_003879		202028664	1	tier1	-	no_errors	ENST00000309955	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.986	A	A	202028664	C	A	202028664	3	1	5	1	0	0	0	0	1	0	0	0	3299	912	32	3	1509	3	CFLAR	2	202028664	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	41391184	202028664	41170709	23	1287											
IRS1	3667	genome.wustl.edu	37	chr2	227661909	227661909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggaaccgattatccagatCtgcagcactggctgcttcat	9	11	9	12	2	2	1	1	0	1	1	4	3	3	2	2	2	4	4	2	2	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:227661909C>G	ENST00000305123.5	-	1	2566	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	516					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTATCCAGATCTGCAGCACTG	0.582											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54	58	56					2																	227661909		2203	4300	6503	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1546G>C	2.37:g.227661909C>G	ENSP00000304895:p.Asp516His	2321		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.D516H	ENST00000305123.5	37	c.1546	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011642	0.35511	.	.	ENSG00000169047	ENST00000305123	T	0.61859	0.07	4.85	4.85	0.62838	.	0.064283	0.64402	D	0.000013	T	0.64338	0.2589	L	0.42245	1.32	0.43846	D	0.996432	D	0.62365	0.991	P	0.54401	0.751	T	0.68413	-0.5415	10	0.72032	D	0.01	-18.6238	18.1485	0.89667	0.0:1.0:0.0:0.0	.	516	P35568	IRS1_HUMAN	H	516	ENSP00000304895:D516H	ENSP00000304895:D516H	D	-	1	0	IRS1	227370153	0.991000	0.36638	0.760000	0.31359	0.627000	0.37826	5.759000	0.68785	2.511000	0.84671	0.555000	0.69702	GAT	IRS1	-	NULL	ENSG00000169047		0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	-	0	33	0	C	NM_005544		227661909	-1	tier1	-	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.987	G	G	227661909	C	G	227661909	3	3	5	1	0	0	0	0	1	0	0	0	7867	913	32	5	2186	5	IRS1	2	227661909	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	25633245	227661909	15537464	24	1288											
CHRNG	1146	genome.wustl.edu	37	chr2	233407776	233407779	+	Frame_Shift_Del	DEL	CTTC	CTTC	-																															tctgtcgccatcctcatccaCttccttcctgccaagggtac																										TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	CTTC	CTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:233407776_233407779delCTTC	ENST00000389494.3	+	7	810_813	c.789_792delCTTC	c.(787-792)cacttcfs	p.HF263fs	CHRNG_ENST00000389492.3_Frame_Shift_Del_p.HF211fs	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	263					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TCCTCATCCACTTCCTTCCTGCCA	0.608																																																	0																																										SO:0001589	frameshift_variant	0			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.789_792delCTTC	2.37:g.233407780_233407783delCTTC	ENSP00000374145:p.His263fs		B3KWM8|Q14DU4|Q53RG2	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.A267fs	ENST00000389494.3	37	c.789_792	CCDS33400.1	2																																																																																			CHRNG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000196811		0.608	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1		0	46	0	CTTC	NM_005199		233407779	1	tier1		no_errors	ENST00000389494	ensembl	human	known	74_37	frame_shift_del	25.37	50	17	DEL	1.000:1.000:1.000:1.000	-	-	233407779	CTTC	-	233407776	7	5	5	1	0	1	0	1	0	0	0	0	3403	564	20	0	815	0	CHRNG	2	233407776	Frame_Shift_Del	DEL	CTTC	TCGA-2H-A9GJ-01A-11D-A37C-09	5745867	233407776	9791597	25	1289											
THAP4	51078	genome.wustl.edu	37	chr2	242541323	242541323	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctcacctgctctacgtgGggctccttggcgaaggagat	6	9	15	11	2	2	1	1	0	1	1	3	3	3	1	2	5	2	3	2	5	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr2:242541323G>T	ENST00000407315.1	-	5	2033	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	THAP4_ENST00000402545.1_Silent_p.P122P|THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402136.1_Silent_p.P122P	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	534							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCTCTACGTGGGGCTCCTTGG	0.632																																																	0													119	94	103					2																	242541323		2203	4296	6499	SO:0001819	synonymous_variant	0			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1602C>A	2.37:g.242541323G>T			Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P534	ENST00000407315.1	37	c.1602	CCDS2551.1	2																																																																																			THAP4	-	pfam_DUF1794,superfamily_Calycin-like	ENSG00000176946		0.632	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3		0	78	0	G	NM_015963		242541323	-1			no_errors	ENST00000407315	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.949	T	T	242541323	G	T	242541323	2	4	5	1	0	0	0	0	0	0	0	1	15893	1219	43	3		3	THAP4	2	242541323	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	9133547	242541323	658050	26	1290											
SEC13	6396	genome.wustl.edu	37	chr3	10342968	10342968	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgttctgctggccctCtgtcactgatgctgatacgg	4	13	11	13	2	3	2	1	2	2	0	4	2	3	2	1	2	4	4	1	2	1	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:10342968C>A	ENST00000350697.3	-	9	1071	c.946G>T	c.(946-948)Gag>Tag	p.E316*	SEC13_ENST00000383801.2_Nonsense_Mutation_p.E362*|SEC13_ENST00000397109.3_Nonsense_Mutation_p.E302*|SEC13_ENST00000397117.1_Intron|SEC13_ENST00000337354.4_Nonsense_Mutation_p.E319*|SEC13_ENST00000492602.1_Intron	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	316					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGCTGGCCCTCTGTCACTGAT	0.607																																																	0													120	96	104					3																	10342968		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.946G>T	3.37:g.10342968C>A	ENSP00000312122:p.Glu316*		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E316*	ENST00000350697.3	37	c.946	CCDS2599.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.616196	0.96649	.	.	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000383801	.	.	.	5.23	5.23	0.72850	.	0.288120	0.41001	D	0.000976	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	16.3231	0.82958	0.0:1.0:0.0:0.0	.	.	.	.	X	302;319;316;362	.	ENSP00000336566:E319X	E	-	1	0	SEC13	10317968	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	7.696000	0.84270	2.433000	0.82419	0.655000	0.94253	GAG	SEC13	-	NULL	ENSG00000157020		0.607	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3		0	28	0	C			10342968	-1			no_errors	ENST00000350697	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	1.000	A	A	10342968	C	A	10342968	4	1	5	1	0	0	0	0	0	1	0	0	14025	922	32	3	26	3	SEC13	3	10342968	Nonsense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		10342968	187679462	27	1291											
SLC4A7	9497	genome.wustl.edu	37	chr3	27436082	27436082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtaacccgctgttcaCgaattcccaaaaacttgggt	10	10	8	13	2	1	0	1	0	0	0	2	1	2	0	3	1	2	3	3	1	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:27436082C>T	ENST00000295736.5	-	20	3087	c.3017G>A	c.(3016-3018)cGt>cAt	p.R1006H	SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1015H|SLC4A7_ENST00000437179.1_Missense_Mutation_p.R887H|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R556H|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1002H|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R998H|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R891H|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R887H|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1002H|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R882H	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1006					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R1006H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCGCTGTTCACGAATTCCCAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											77	75	76					3																	27436082		2203	4300	6503	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3017G>A	3.37:g.27436082C>T	ENSP00000295736:p.Arg1006His		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.R1015H	ENST00000295736.5	37	c.3044	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.632261	0.96682	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.054724	0.64402	D	0.000001	D	0.91597	0.7345	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.989;0.998;1.0;0.998;0.992;0.981;0.998;0.989	D	0.92249	0.5807	10	0.87932	D	0	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	1002;887;998;1002;1015;556;882;1006;887	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	H	557;1006;882;1015;1002;887;998;887;1002;891;556;902	ENSP00000411031:R557H;ENSP00000295736:R1006H;ENSP00000416368:R882H;ENSP00000390394:R1015H;ENSP00000414797:R1002H;ENSP00000394252:R887H;ENSP00000406605:R998H;ENSP00000407382:R887H;ENSP00000406804:R1002H;ENSP00000395336:R891H;ENSP00000373429:R556H;ENSP00000388703:R902H	ENSP00000295736:R1006H	R	-	2	0	SLC4A7	27411086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.728000	0.93425	0.591000	0.81541	CGT	SLC4A7	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.398	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	-	0	73	0	C	NM_003615		27436082	-1	tier1	-	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	27436082	C	T	27436082	3	4	5	1	0	0	0	0	1	0	0	0	14703	536	19	1	651	1	SLC4A7	3	27436082	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	17093114	27436082	170586348	28	1292											
DOCK3	1795	genome.wustl.edu	37	chr3	51393609	51393609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgagtcaagagcttctatCgcgtcaacaatgtgaggaag	13	9	11	8	3	3	2	2	1	1	1	5	4	3	3	0	1	2	1	0	1	5	2	rs377384726		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:51393609C>T	ENST00000266037.9	+	42	4362	c.4339C>T	c.(4339-4341)Cgc>Tgc	p.R1447C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAGCTTCTATCGCGTCAACAA	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		25045	0		0	False		,,,				2504	0																0								C	CYS/ARG	1,3909		0,1,1954	136	129	131		4339	5.4	1	3		131	0,8322		0,0,4161	no	missense	DOCK3	NM_004947.4	180	0,1,6115	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	1447/2031	51393609	1,12231	1955	4161	6116	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4339C>T	3.37:g.51393609C>T	ENSP00000266037:p.Arg1447Cys		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R1447C	ENST00000266037.9	37	c.4339	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345772	0.82022	2.56E-4	0.0	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.19806	2.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.43163	-0.9408	10	0.62326	D	0.03	.	14.3041	0.66373	0.1485:0.8515:0.0:0.0	.	1447	Q8IZD9	DOCK3_HUMAN	C	1447;243	ENSP00000266037:R1447C	ENSP00000266037:R1447C	R	+	1	0	DOCK3	51368649	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	3.101000	0.50283	2.665000	0.90641	0.561000	0.74099	CGC	DOCK3	-	pfam_DOCK_C	ENSG00000088538		0.478	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0	65	0	C	NM_004947		51393609	1			no_errors	ENST00000266037	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	51393609	C	T	51393609	3	4	5	1	0	0	0	0	1	0	0	0	4702	884	31	1	4505	1	DOCK3	3	51393609	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	23957527	51393609	146628821	29	1293											
ROBO2	6092	genome.wustl.edu	37	chr3	77147383	77147383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggatccttattcttcttgCgcatcgtgcacgggcgcagg	5	11	13	12	5	2	0	0	0	2	0	4	1	3	1	1	3	2	3	1	3	1	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:77147383C>T	ENST00000461745.1	+	2	1180	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ROBO2_ENST00000487694.3_Missense_Mutation_p.R110C|ROBO2_ENST00000332191.8_Missense_Mutation_p.R94C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	94	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTCTTCTTGCGCATCGTGCA	0.537																																																	0													86	92	90					3																	77147383		2026	4187	6213	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.280C>T	3.37:g.77147383C>T	ENSP00000417164:p.Arg94Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R94C	ENST00000461745.1	37	c.280	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221367	0.79464	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.69435	-0.4;-0.4;-0.4	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.38217	U	0.001778	D	0.84951	0.5586	M	0.86651	2.83	0.35920	D	0.831742	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.87401	0.2369	9	0.87932	D	0	.	19.1855	0.93642	0.0:1.0:0.0:0.0	.	110;94;94	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	110;110;110;94;94	ENSP00000417335:R110C;ENSP00000417164:R94C;ENSP00000327536:R94C	ENSP00000327536:R94C	R	+	1	0	ROBO2	77230073	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	5.951000	0.70273	2.525000	0.85131	0.655000	0.94253	CGC	ROBO2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000185008		0.537	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	56	0	C	XM_031246		77147383	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	T	T	77147383	C	T	77147383	3	4	5	1	0	0	0	0	1	0	0	0	13559	768	27	1	288	1	ROBO2	3	77147383	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	25753774	77147383	120875047	30	1294											
EPHA6	285220	genome.wustl.edu	37	chr3	96706669	96706669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgtttcctgataccattCcaagggttgattcctcctct	7	15	6	13	0	1	2	0	2	1	0	5	2	5	2	6	1	1	2	6	1	2	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:96706669C>T	ENST00000389672.5	+	3	984	c.946C>T	c.(946-948)Cca>Tca	p.P316S	EPHA6_ENST00000470610.2_Missense_Mutation_p.P316S|EPHA6_ENST00000542517.1_Missense_Mutation_p.P222S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	222						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGATACCATTCCAAGGGTTGA	0.478																																																	0													211	212	212					3																	96706669		1971	4174	6145	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.946C>T	3.37:g.96706669C>T	ENSP00000374323:p.Pro316Ser		D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P316S	ENST00000389672.5	37	c.946	CCDS46876.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.27|13.27	2.187322|2.187322	0.38609|0.38609	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.74315|.	5.07;-0.83;4.53|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.270289|.	0.29260|.	U|.	0.012678|.	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.54330|0.54330	-0.8310|-0.8310	10|5	0.31617|.	T|.	0.26|.	.|.	18.3228|18.3228	0.90244|0.90244	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	316;316|.	B3KS12;E7EU71|.	.;.|.	S|F	316;316;222|260	ENSP00000420598:P316S;ENSP00000374323:P316S;ENSP00000439758:P222S|.	ENSP00000374323:P316S|.	P|S	+|+	1|2	0|0	EPHA6|EPHA6	98189359|98189359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.725000|4.725000	0.61979|0.61979	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	CCA|TCC	EPHA6	-	NULL	ENSG00000080224		0.478	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3	-	0	51	0	C	NM_001080448		96706669	1	tier1	-	no_errors	ENST00000389672	ensembl	human	known	74_37	missense	27.54	50	19	SNP	1.000	T	T	96706669	C	T	96706669	3	4	5	1	0	0	0	0	1	0	0	0	5187	855	30	3	956	3	EPHA6	3	96706669	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	19559286	96706669	101315761	31	1295											
TFG	10342	genome.wustl.edu	37	chr3	100432649	100432649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaattagtgctaatgatGcaacgagttttcagaggaaa	15	11	11	4	1	1	3	1	2	0	1	1	6	1	4	0	1	3	3	0	1	5	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:100432649G>T	ENST00000240851.4	+	2	460	c.120G>T	c.(118-120)atG>atT	p.M40I	TFG_ENST00000490574.1_Missense_Mutation_p.M40I|TFG_ENST00000476228.1_Missense_Mutation_p.M40I|TFG_ENST00000418917.2_Missense_Mutation_p.M40I	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	40					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGCTAATGATGCAACGAGTTT	0.318			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	0													82	84	83					3																	100432649		2203	4300	6503	SO:0001583	missense	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.120G>T	3.37:g.100432649G>T	ENSP00000240851:p.Met40Ile		D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.M40I	ENST00000240851.4	37	c.120	CCDS2939.1	3	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893688	0.72639	.	.	ENSG00000114354	ENST00000418917;ENST00000490574;ENST00000240851;ENST00000479672;ENST00000476228;ENST00000443578;ENST00000463568;ENST00000487505	T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22	5.9	5.9	0.94986	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	M	0.73753	2.245	0.80722	D	1	P;P	0.49559	0.908;0.925	D;D	0.67900	0.922;0.954	T	0.28396	-1.0045	10	0.87932	D	0	-8.4022	20.2789	0.98501	0.0:0.0:1.0:0.0	.	40;40	G5E9V1;Q92734	.;TFG_HUMAN	I	40	ENSP00000397182:M40I;ENSP00000419960:M40I;ENSP00000240851:M40I;ENSP00000419559:M40I;ENSP00000417952:M40I;ENSP00000419504:M40I;ENSP00000420797:M40I	ENSP00000240851:M40I	M	+	3	0	TFG	101915339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.373000	0.97168	2.788000	0.95919	0.650000	0.86243	ATG	TFG	-	pfam_OPR_PB1,smart_OPR_PB1	ENSG00000114354		0.318	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1		0	59	0	G	NM_006070		100432649	1			no_errors	ENST00000240851	ensembl	human	known	74_37	missense	5.06	74	4	SNP	1.000	T	T	100432649	G	T	100432649	3	4	5	1	0	0	0	0	1	0	0	0	15853	1319	46	3	122	3	TFG	3	100432649	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	3725980	100432649	97589781	32	1296											
PVRL3	25945	genome.wustl.edu	37	chr3	110837677	110837677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccaaatgaaacggcaaCgattatcagccagtacaagc	15	9	7	10	2	1	1	1	1	0	0	2	2	2	1	2	1	5	2	2	1	6	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:110837677C>T	ENST00000485303.1	+	3	952	c.677C>T	c.(676-678)aCg>aTg	p.T226M	PVRL3_ENST00000319792.3_Missense_Mutation_p.T226M|PVRL3_ENST00000493615.1_Missense_Mutation_p.T203M	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	226	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GAAACGGCAACGATTATCAGC	0.438																																																	0													93	84	87					3																	110837677		2203	4300	6503	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.677C>T	3.37:g.110837677C>T	ENSP00000418070:p.Thr226Met		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.T226M	ENST00000485303.1	37	c.677	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463696	0.43736	.	.	ENSG00000177707	ENST00000491525;ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.80824	-1.42;-1.42;-1.42	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098915	0.64402	D	0.000001	D	0.90765	0.7101	M	0.85859	2.78	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.91862	0.5500	10	0.87932	D	0	.	17.1218	0.86704	0.0:1.0:0.0:0.0	.	203;226	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	M	14;226;226;203	ENSP00000418070:T226M;ENSP00000321514:T226M;ENSP00000420579:T203M	ENSP00000321514:T226M	T	+	2	0	PVRL3	112320367	0.999000	0.42202	0.998000	0.56505	0.659000	0.38960	4.090000	0.57693	2.648000	0.89879	0.650000	0.86243	ACG	PVRL3	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000177707		0.438	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	-	0	41	0	C	NM_015480		110837677	1	tier1	-	no_errors	ENST00000485303	ensembl	human	known	74_37	missense	38.89	44	28	SNP	0.998	T	T	110837677	C	T	110837677	3	4	5	1	0	0	0	0	1	0	0	0	12886	536	19	1	687	1	PVRL3	3	110837677	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	10405028	110837677	87184753	33	1297											
TMCC1	23023	genome.wustl.edu	37	chr3	129547039	129547039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtggagacactgatgacctCctgcgctggtgctggaagag	8	9	15	9	1	0	4	0	2	0	2	1	6	1	5	2	3	2	2	2	3	1	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:129547039C>T	ENST00000393238.3	-	3	523	c.183G>A	c.(181-183)agG>agA	p.R61R	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	61						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGATGACCTCCTGCGCTGGT	0.463																																																	0													91	77	82					3																	129547039		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.183G>A	3.37:g.129547039C>T			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.R61	ENST00000393238.3	37	c.183	CCDS33855.1	3																																																																																			TMCC1	-	NULL	ENSG00000172765		0.463	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	-	0	53	0	C	NM_015008		129547039	-1	tier1	-	no_errors	ENST00000393238	ensembl	human	known	74_37	silent	45.83	39	33	SNP	1.000	T	T	129547039	C	T	129547039	2	4	5	1	0	0	0	0	0	0	0	1	16039	854	30	3		3	TMCC1	3	129547039	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	18709362	129547039	68475391	34	1298											
PCOLCE2	26577	genome.wustl.edu	37	chr3	142567065	142567065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggaaacagtacctctttCgtttggttcagcagcggaga	9	12	12	8	2	2	1	1	0	1	1	3	3	2	2	1	3	4	4	1	3	2	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:142567065C>T	ENST00000295992.3	-	3	748	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.E148K	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	148					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTACCTCTTTCGTTTGGTTCA	0.438																																																	0													67	68	68					3																	142567065		2203	4300	6503	SO:0001583	missense	0			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.442G>A	3.37:g.142567065C>T	ENSP00000295992:p.Glu148Lys		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.E148K	ENST00000295992.3	37	c.442	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287191	0.23478	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.22539	2.06;1.95	5.39	3.59	0.41128	.	0.152522	0.64402	D	0.000019	T	0.10035	0.0246	N	0.20845	0.615	0.35994	D	0.836895	B	0.32040	0.353	B	0.26202	0.067	T	0.15206	-1.0445	10	0.05833	T	0.94	-7.1613	10.2279	0.43236	0.0:0.674:0.2564:0.0696	.	148	Q9UKZ9	PCOC2_HUMAN	K	148	ENSP00000295992:E148K;ENSP00000419842:E148K	ENSP00000295992:E148K	E	-	1	0	PCOLCE2	144049755	1.000000	0.71417	0.765000	0.31456	0.842000	0.47809	3.583000	0.53928	0.835000	0.34877	0.644000	0.83932	GAA	PCOLCE2	-	NULL	ENSG00000163710		0.438	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	-	0	51	0	C	NM_013363		142567065	-1	tier1	-	no_errors	ENST00000295992	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.991	T	T	142567065	C	T	142567065	3	4	5	1	0	0	0	0	1	0	0	0	11634	893	31	1	833	1	PCOLCE2	3	142567065	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	13020026	142567065	55455365	35	1299											
PLSCR1	5359	genome.wustl.edu	37	chr3	146234933	146234933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattttgccaaccacacActgttcatcaagagatttaa	15	11	6	9	0	2	1	2	0	0	1	2	3	2	2	2	1	2	1	2	1	4	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:146234933A>G	ENST00000342435.4	-	8	1170	c.760T>C	c.(760-762)Tgt>Cgt	p.C254R	PLSCR1_ENST00000487389.1_Missense_Mutation_p.C247R|PLSCR1_ENST00000448787.2_Missense_Mutation_p.C173R|PLSCR1_ENST00000448205.1_5'UTR|PLSCR1_ENST00000484560.1_5'UTR	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	254					acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						CCAACCACACACTGTTCATCA	0.323																																																	0													70	70	70					3																	146234933		2203	4300	6503	SO:0001583	missense	0			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.760T>C	3.37:g.146234933A>G	ENSP00000345494:p.Cys254Arg		B2R8H8|B4DTE8	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.C254R	ENST00000342435.4	37	c.760	CCDS3135.1	3	.	.	.	.	.	.	.	.	.	.	.	4.759	0.141174	0.09083	.	.	ENSG00000188313	ENST00000342435;ENST00000487389;ENST00000448787;ENST00000462666	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	4.85	-5.38	0.02673	.	2.084570	0.03576	U	0.229397	T	0.05777	0.0151	N	0.01352	-0.895	0.09310	N	0.999999	B;B	0.22414	0.069;0.009	B;B	0.17722	0.019;0.004	T	0.28964	-1.0027	10	0.11485	T	0.65	.	5.8457	0.18665	0.5118:0.1842:0.0:0.304	.	173;254	B4DTE8;O15162	.;PLS1_HUMAN	R	254;247;173;230	ENSP00000345494:C254R;ENSP00000417792:C247R;ENSP00000411675:C173R;ENSP00000418103:C230R	ENSP00000345494:C254R	C	-	1	0	PLSCR1	147717623	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.457000	0.06745	-0.769000	0.04620	-0.472000	0.04984	TGT	PLSCR1	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000188313		0.323	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLSCR1	HGNC	protein_coding	OTTHUMT00000355257.2	-	0	52	0	A	NM_021105		146234933	-1	tier1	-	no_errors	ENST00000342435	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	G	G	146234933	A	G	146234933	3	3	5	1	0	0	0	0	1	0	0	0	12148	159	6	4	204	4	PLSCR1	3	146234933	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	3667868	146234933	51787497	36	1300											
MLF1	4291	genome.wustl.edu	37	chr3	158320686	158320686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacactagaatgagaaGtgttggccatgagaatcctg	15	8	12	6	0	0	3	0	2	0	3	1	6	1	4	2	2	1	1	2	2	5	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr3:158320686G>T	ENST00000355893.5	+	6	797	c.659G>T	c.(658-660)aGt>aTt	p.S220I	MLF1_ENST00000482628.1_Missense_Mutation_p.S195I|MLF1_ENST00000484955.1_Missense_Mutation_p.S195I|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000392822.3_Missense_Mutation_p.S251I|MLF1_ENST00000478894.2_Missense_Mutation_p.S210I|MLF1_ENST00000469452.1_Missense_Mutation_p.S152I|MLF1_ENST00000471745.1_Missense_Mutation_p.S210I|MLF1_ENST00000359117.5_Missense_Mutation_p.S195I	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	220					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AGAATGAGAAGTGTTGGCCAT	0.373			T	NPM1	AML																																			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0													106	101	102					3																	158320686		2203	4300	6503	SO:0001583	missense	0			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"myeloid leukemia factor 1 variant 1", "myeloid leukemia factor 1 variant 2", "myeloid leukemia factor 1 variant 3"	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.659G>T	3.37:g.158320686G>T	ENSP00000348157:p.Ser220Ile		E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	pfam_Myeloid_leukemia_factor	p.S251I	ENST00000355893.5	37	c.752	CCDS3182.1	3	.	.	.	.	.	.	.	.	.	.	G	13.13	2.143786	0.37825	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000498592;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822	T;T;T;T;T;T;T;T;T;T	0.50548	0.79;0.77;0.78;0.78;0.81;0.77;0.79;0.78;0.77;0.74	5.77	2.53	0.30540	.	0.479972	0.23135	N	0.051540	T	0.41190	0.1148	L	0.29908	0.895	0.09310	N	1	D;P;P	0.54397	0.966;0.918;0.938	P;P;P	0.50896	0.641;0.653;0.548	T	0.23226	-1.0194	10	0.22109	T	0.4	-7.952	10.9915	0.47551	0.2833:0.0:0.7167:0.0	.	152;251;220	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	I	146;220;195;195;175;210;152;195;210;251	ENSP00000420410:S146I;ENSP00000348157:S220I;ENSP00000417835:S195I;ENSP00000352025:S195I;ENSP00000419636:S175I;ENSP00000420134:S210I;ENSP00000418595:S152I;ENSP00000417141:S195I;ENSP00000417777:S210I;ENSP00000376568:S251I	ENSP00000348157:S220I	S	+	2	0	MLF1	159803380	0.124000	0.22315	0.002000	0.10522	0.099000	0.18886	1.169000	0.31871	0.772000	0.33382	0.585000	0.79938	AGT	MLF1	-	NULL	ENSG00000178053		0.373	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	-	0	70	0	G	NM_022443		158320686	1	tier1	-	no_errors	ENST00000392822	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.001	T	T	158320686	G	T	158320686	3	4	5	1	0	0	0	0	1	0	0	0	9652	1029	36	3	681	3	MLF1	3	158320686	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	12085753	158320686	39701744	37	1301											
ARAP2	116984	genome.wustl.edu	37	chr4	36122944	36122944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatttctgagcatttctGaaccctgtcagagaaaagca	13	12	8	8	0	3	4	1	3	2	1	3	5	3	4	1	0	3	2	1	0	3	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr4:36122944G>T	ENST00000303965.4	-	23	4240	c.3751C>A	c.(3751-3753)Cag>Aag	p.Q1251K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAGCATTTCTGAACCCTGTCA	0.333																																																	0													86	88	88					4																	36122944		2203	4299	6502	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3751C>A	4.37:g.36122944G>T	ENSP00000302895:p.Gln1251Lys		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.Q1251K	ENST00000303965.4	37	c.3751	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780096	0.90195	.	.	ENSG00000047365	ENST00000303965	T	0.18174	2.23	5.6	5.6	0.85130	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.059881	0.64402	D	0.000001	T	0.43255	0.1239	M	0.69823	2.125	0.54753	D	0.999986	D	0.69078	0.997	D	0.66979	0.948	T	0.14587	-1.0467	10	0.54805	T	0.06	.	19.9823	0.97331	0.0:0.0:1.0:0.0	.	1251	Q8WZ64	ARAP2_HUMAN	K	1251	ENSP00000302895:Q1251K	ENSP00000302895:Q1251K	Q	-	1	0	ARAP2	35799339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.725000	0.91468	2.788000	0.95919	0.650000	0.86243	CAG	ARAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047365		0.333	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	75	0	G	NM_015230		36122944	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	36122944	G	T	36122944	3	4	5	1	0	0	0	0	1	0	0	0	839	1299	45	3	1407	3	ARAP2	4	36122944	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		36122944	155031332	38	1302											
ADCY2	108	genome.wustl.edu	37	chr5	7709445	7709445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcagccaagccctttgCacacctacatcacagggaca	11	5	11	14	0	1	0	1	0	0	0	1	1	1	1	3	3	4	2	3	3	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:7709445C>T	ENST00000338316.4	+	10	1612	c.1523C>T	c.(1522-1524)gCa>gTa	p.A508V	ADCY2_ENST00000537121.1_Missense_Mutation_p.A328V|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	508					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AAGCCCTTTGCACACCTACAT	0.597																																																	0													96	72	81					5																	7709445		2203	4300	6503	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1523C>T	5.37:g.7709445C>T	ENSP00000342952:p.Ala508Val		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A508V	ENST00000338316.4	37	c.1523	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	c	36	5.867201	0.97043	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.78003	-1.14;-1.14	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	M	0.74647	2.275	0.80722	D	1	P;P	0.45569	0.526;0.861	P;P	0.56216	0.672;0.794	D	0.86991	0.2110	10	0.62326	D	0.03	.	19.6604	0.95864	0.0:1.0:0.0:0.0	.	328;508	B7Z2C1;Q08462	.;ADCY2_HUMAN	V	508;341;328	ENSP00000342952:A508V;ENSP00000444803:A328V	ENSP00000342952:A508V	A	+	2	0	ADCY2	7762445	1.000000	0.71417	0.927000	0.36925	0.998000	0.95712	7.576000	0.82467	2.644000	0.89710	0.558000	0.71614	GCA	ADCY2	-	pfam_Adenylate_cyclase-like	ENSG00000078295		0.597	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0	43	0	C	NM_020546		7709445	1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	7709445	C	T	7709445	3	4	5	1	0	0	0	0	1	0	0	0	294	710	25	3	1561	3	ADCY2	5	7709445	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		7709445	173205815	39	1303											
FAM105A	54491	genome.wustl.edu	37	chr5	14601228	14601228	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattcagggcacaagctGaaatggtaggtcactgtatc	12	12	10	7	0	2	1	2	1	0	0	3	1	2	1	0	3	1	4	0	3	6	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:14601228G>T	ENST00000274217.3	+	2	339	c.219G>T	c.(217-219)ctG>ctT	p.L73L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	73										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GGCACAAGCTGAAATGGTAGG	0.388																																																	0													179	170	173					5																	14601228		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.219G>T	5.37:g.14601228G>T			Q53H50|Q9H037	Silent	SNP	prints_FAM105,prints_FAM105A	p.L73	ENST00000274217.3	37	c.219	CCDS3884.1	5																																																																																			FAM105A	-	NULL	ENSG00000145569		0.388	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1		0	68	0	G	NM_019018		14601228	1			no_errors	ENST00000274217	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.992	T	T	14601228	G	T	14601228	2	4	5	1	0	0	0	0	0	0	0	1	5406	1277	45	3		3	FAM105A	5	14601228	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	6891783	14601228	166314032	40	1304											
PDZD2	23037	genome.wustl.edu	37	chr5	32087802	32087802	+	Frame_Shift_Del	DEL	A	A	-																															gtctcggggcactgctgcccAggggggagtagagagagccc																								rs157497|rs113511990	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:32087802delA	ENST00000438447.1	+	20	4636	c.4248delA	c.(4246-4248)ccafs	p.P1416fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.P1416fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	1416					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTGCTGCCCAGGGGGGAGTA	0.592																																																	0													41	41	41					5																	32087802		2203	4300	6503	SO:0001589	frameshift_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4248delA	5.37:g.32087802delA	ENSP00000402033:p.Pro1416fs		Q9BXD4	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1419fs	ENST00000438447.1	37	c.4248	CCDS34137.1	5																																																																																			PDZD2	-	NULL	ENSG00000133401		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0	57	0	A			32087802	1	tier1		no_errors	ENST00000282493	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.000	-	-	32087802	A	-	32087802	7	5	5	1	0	1	0	1	0	0	0	0	11740	175	7	0	4322	0	PDZD2	5	32087802	Frame_Shift_Del	DEL	A	TCGA-2H-A9GJ-01A-11D-A37C-09	17486574	32087802	148827458	41	1305											
RAI14	26064	genome.wustl.edu	37	chr5	34803840	34803840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgccttacatctcgcaGccaagaacagccaccatgaa	14	5	7	15	2	1	2	0	1	1	1	2	2	1	2	4	0	5	1	4	0	4	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:34803840G>A	ENST00000265109.3	+	5	567	c.280G>A	c.(280-282)Gcc>Acc	p.A94T	RAI14_ENST00000515799.1_Missense_Mutation_p.A97T|RAI14_ENST00000428746.2_Missense_Mutation_p.A94T|RAI14_ENST00000397449.1_Missense_Mutation_p.A87T|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000503673.1_Missense_Mutation_p.A94T|RAI14_ENST00000506376.1_Missense_Mutation_p.A86T|RAI14_ENST00000512629.1_Missense_Mutation_p.A94T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	94						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACATCTCGCAGCCAAGAACAG	0.338																																																	0													54	51	52					5																	34803840		2203	4300	6503	SO:0001583	missense	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.280G>A	5.37:g.34803840G>A	ENSP00000265109:p.Ala94Thr		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A97T	ENST00000265109.3	37	c.289	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527406	0.85706	.	.	ENSG00000039560	ENST00000265109;ENST00000514527;ENST00000513974;ENST00000512629;ENST00000428746;ENST00000514873;ENST00000503673;ENST00000504052;ENST00000512305;ENST00000514036;ENST00000515799;ENST00000508315;ENST00000512625;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.79009	0.4374	M	0.73753	2.245	0.43564	D	0.995888	P;D;D;D	0.56746	0.925;0.977;0.977;0.977	P;P;P;P	0.57425	0.54;0.82;0.786;0.82	T	0.76647	-0.2882	9	0.36615	T	0.2	-14.9033	18.5214	0.90954	0.0:0.0:1.0:0.0	.	86;94;97;94	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	T	94;94;94;94;94;94;94;94;94;94;97;94;94;86;87	ENSP00000265109:A94T;ENSP00000424879:A94T;ENSP00000422112:A94T;ENSP00000422377:A94T;ENSP00000388725:A94T;ENSP00000421424:A94T;ENSP00000422942:A94T;ENSP00000422515:A94T;ENSP00000422114:A94T;ENSP00000424502:A94T;ENSP00000427123:A97T;ENSP00000426770:A94T;ENSP00000425115:A94T;ENSP00000423854:A86T;ENSP00000380591:A87T	ENSP00000265109:A94T	A	+	1	0	RAI14	34839597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.138000	0.77305	2.814000	0.96858	0.655000	0.94253	GCC	RAI14	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000039560		0.338	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	-	0	66	0	G	NM_015577		34803840	1	tier1	-	no_errors	ENST00000515799	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	34803840	G	A	34803840	3	1	5	1	0	0	0	0	1	0	0	0	13053	971	34	3	359	3	RAI14	5	34803840	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	2716038	34803840	146111420	42	1306											
LMBRD2	92255	genome.wustl.edu	37	chr5	36137524	36137524	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgatcttgcatatgactGcataaaaggtaagagaatcc	14	11	8	8	0	1	3	0	2	1	1	3	4	3	3	2	1	2	3	2	1	5	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:36137524G>A	ENST00000296603.4	-	5	850	c.388C>T	c.(388-390)Cag>Tag	p.Q130*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	130						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATATGACTGCATAAAAGGT	0.333																																																	0													65	65	65					5																	36137524		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.388C>T	5.37:g.36137524G>A	ENSP00000296603:p.Gln130*		B3KRB6|Q9NTC7	Nonsense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.Q130*	ENST00000296603.4	37	c.388	CCDS34145.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.318679	0.99135	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-7.6352	19.8961	0.96958	0.0:0.0:1.0:0.0	.	.	.	.	X	130;24	.	ENSP00000296603:Q130X	Q	-	1	0	LMBRD2	36173281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.135000	0.94478	2.699000	0.92147	0.655000	0.94253	CAG	LMBRD2	-	pfam_LMBR1-like_membr_prot	ENSG00000164187		0.333	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	HGNC	protein_coding	OTTHUMT00000367552.1		0	56	0	G	NM_001007527		36137524	-1			no_errors	ENST00000296603	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	A	A	36137524	G	A	36137524	4	1	5	1	0	0	0	0	0	1	0	0	8873	1328	46	3	1755	3	LMBRD2	5	36137524	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1333684	36137524	144777736	43	1307											
CCL28	56477	genome.wustl.edu	37	chr5	43381972	43381972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtagactctctaataaggaGttttatggccgtatgtttcg	9	16	10	6	2	1	1	0	0	1	1	3	2	1	2	1	2	0	4	1	2	5	7			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:43381972G>T	ENST00000361115.4	-	3	448	c.374C>A	c.(373-375)aCt>aAt	p.T125N	CCL28_ENST00000513525.1_Missense_Mutation_p.T78N	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	125					cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)			kidney(3)|lung(3)|ovary(1)	7						CTAATAAGGAGTTTTATGGCC	0.398																																					Esophageal Squamous(178;1549 1997 2043 22794 27051)												0													264	244	251					5																	43381972		2203	4300	6503	SO:0001583	missense	0			AF110384	CCDS3944.1	5p12	2013-02-25			ENSG00000151882	ENSG00000151882		"Chemokine ligands", "Endogenous ligands"	17700	protein-coding gene	gene with protein product	"CC chemokine CCL28", "mucosae-associated epithelial chemokine", "small inducible cytokine subfamily A (Cys-Cys), member 28", "small inducible cytokine A28"	605240				10781587, 11295038	Standard	XR_241707		Approved	SCYA28, MEC, CCK1	uc003jnu.3	Q9NRJ3	OTTHUMG00000094811	ENST00000361115.4:c.374C>A	5.37:g.43381972G>T	ENSP00000354416:p.Thr125Asn		D7RIE7	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom	p.T125N	ENST00000361115.4	37	c.374	CCDS3944.1	5	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755012	0.49362	.	.	ENSG00000151882	ENST00000361115;ENST00000513525	T;T	0.34667	1.78;1.35	5.29	3.51	0.40186	.	0.918507	0.09155	N	0.840924	T	0.25531	0.0621	L	0.27053	0.805	0.09310	N	0.999997	P	0.44627	0.839	B	0.38562	0.276	T	0.11842	-1.0571	10	0.72032	D	0.01	-3.2249	7.1608	0.25662	0.0901:0.172:0.7379:0.0	.	125	Q9NRJ3	CCL28_HUMAN	N	125;78	ENSP00000354416:T125N;ENSP00000422369:T78N	ENSP00000354416:T125N	T	-	2	0	CCL28	43417729	0.001000	0.12720	0.001000	0.08648	0.476000	0.33039	0.378000	0.20569	0.793000	0.33875	0.650000	0.86243	ACT	CCL28	-	NULL	ENSG00000151882		0.398	CCL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL28	HGNC	protein_coding	OTTHUMT00000211631.2	-	0	131	0	G	NM_148672		43381972	-1	tier1	-	no_errors	ENST00000361115	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.027	T	T	43381972	G	T	43381972	3	4	5	1	0	0	0	0	1	0	0	0	2907	1029	36	3	13	3	CCL28	5	43381972	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	7244448	43381972	137533288	44	1308											
MRPS30	10884	genome.wustl.edu	37	chr5	44812022	44812022	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttctttaagtttgtGccattggattattctgttcc	5	23	6	7	0	3	0	0	0	3	0	4	1	4	1	2	1	1	2	2	1	2	10			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:44812022G>T	ENST00000507110.1	+	3	791	c.753G>T	c.(751-753)gtG>gtT	p.V251V		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	251					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TTAAGTTTGTGCCATTGGATT	0.299																																																	0													64	66	66					5																	44812022		2203	4298	6501	SO:0001819	synonymous_variant	0			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"Mitochondrial ribosomal proteins / small subunits"	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.753G>T	5.37:g.44812022G>T			Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Silent	SNP	pfam_Ribosomal_L37/S30	p.V251	ENST00000507110.1	37	c.753	CCDS3951.1	5																																																																																			MRPS30	-	pfam_Ribosomal_L37/S30	ENSG00000112996		0.299	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	HGNC	protein_coding	OTTHUMT00000214033.2	-	0	42	0	G	NM_016640		44812022	1	tier1	-	no_errors	ENST00000507110	ensembl	human	known	74_37	silent	61.76	13	21	SNP	0.990	T	T	44812022	G	T	44812022	2	4	5	1	0	0	0	0	0	0	0	1	9878	1306	46	3		3	MRPS30	5	44812022	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1430050	44812022	136103238	45	1309											
SKIV2L2	23517	genome.wustl.edu	37	chr5	54639246	54639246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctactattccaaatgcccGacagtttgctgaatggattt	10	13	9	9	1	0	1	0	1	0	0	1	3	1	2	2	2	3	3	2	2	4	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:54639246G>A	ENST00000230640.5	+	8	1123	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R189Q	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	290	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CCAAATGCCCGACAGTTTGCT	0.338																																					Melanoma(2;92 134 23744 29976 33782)												0													148	144	146					5																	54639246		2203	4299	6502	SO:0001583	missense	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.869G>A	5.37:g.54639246G>A	ENSP00000230640:p.Arg290Gln		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R290Q	ENST00000230640.5	37	c.869	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256907	0.80246	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.41065	1.01;1.01	5.93	5.93	0.95920	DEAD-like helicase (2);	0.135902	0.52532	D	0.000077	T	0.47710	0.1460	L	0.49571	1.57	0.80722	D	1	D;P	0.55172	0.97;0.632	P;B	0.47402	0.546;0.327	T	0.23476	-1.0187	10	0.30854	T	0.27	-12.1643	19.95	0.97195	0.0:0.0:1.0:0.0	.	189;290	F5H7E2;P42285	.;SK2L2_HUMAN	Q	290;189	ENSP00000230640:R290Q;ENSP00000442583:R189Q	ENSP00000230640:R290Q	R	+	2	0	SKIV2L2	54675003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.982000	0.56909	2.812000	0.96745	0.555000	0.69702	CGA	SKIV2L2	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd	ENSG00000039123		0.338	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	-	0	100	0	G			54639246	1	tier1	-	no_errors	ENST00000230640	ensembl	human	known	74_37	missense	69.23	16	36	SNP	1.000	A	A	54639246	G	A	54639246	3	1	5	1	0	0	0	0	1	0	0	0	14405	1058	37	1	899	1	SKIV2L2	5	54639246	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	9827224	54639246	126276014	46	1310											
CMYA5	202333	genome.wustl.edu	37	chr5	79057727	79057727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcaagtgtgggtgatggCtgtgaacttcactggatgta	9	13	13	6	0	2	2	2	2	0	0	2	3	2	3	0	3	1	2	0	3	4	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:79057727C>T	ENST00000446378.2	+	8	11385	c.11354C>T	c.(11353-11355)gCt>gTt	p.A3785V	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3785	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGGTGATGGCTGTGAACTTC	0.463																																																	0													110	109	110					5																	79057727		1998	4156	6154	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11354C>T	5.37:g.79057727C>T	ENSP00000394770:p.Ala3785Val		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A3785V	ENST00000446378.2	37	c.11354	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.222001	0.95139	.	.	ENSG00000164309	ENST00000446378	T	0.68624	-0.34	5.45	5.45	0.79879	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81494	0.4834	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83007	-0.0174	9	0.87932	D	0	.	18.9048	0.92456	0.0:1.0:0.0:0.0	.	3785	Q8N3K9	CMYA5_HUMAN	V	3785	ENSP00000394770:A3785V	ENSP00000394770:A3785V	A	+	2	0	CMYA5	79093483	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.225000	0.78051	2.561000	0.86390	0.655000	0.94253	GCT	CMYA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164309		0.463	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0	71	0	C	NM_153610		79057727	1			no_errors	ENST00000446378	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T	T	79057727	C	T	79057727	3	4	5	1	0	0	0	0	1	0	0	0	3597	797	28	3	11384	3	CMYA5	5	79057727	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	24418481	79057727	101857533	47	1311											
VCAN	1462	genome.wustl.edu	37	chr5	82841391	82841391	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaacccgtgccttaacGgaggcacctgttatcctact	11	10	8	12	2	0	1	0	1	0	0	1	2	1	2	4	2	4	2	4	2	5	3	rs150952901		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:82841391G>T	ENST00000265077.3	+	9	9866	c.9301G>T	c.(9301-9303)Gga>Tga	p.G3101*	VCAN_ENST00000502527.2_Nonsense_Mutation_p.G360*|VCAN_ENST00000343200.5_Nonsense_Mutation_p.G2114*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Nonsense_Mutation_p.G1299*|VCAN_ENST00000342785.4_Nonsense_Mutation_p.G1347*|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3101	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTGCCTTAACGGAGGCACCTG	0.463																																																	0													237	226	230					5																	82841391		2203	4300	6503	SO:0001587	stop_gained	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9301G>T	5.37:g.82841391G>T	ENSP00000265077:p.Gly3101*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G3101*	ENST00000265077.3	37	c.9301	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.746509	0.99693	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	.	.	.	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	.	.	.	X	3101;2114;1347;1299;360	.	ENSP00000265077:G3101X	G	+	1	0	VCAN	82877147	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	5.947000	0.70242	2.769000	0.95229	0.655000	0.94253	GGA	VCAN	-	pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000038427		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	60	0	G	NM_004385		82841391	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	nonsense	36.17	30	17	SNP	1.000	T	T	82841391	G	T	82841391	4	4	5	1	0	0	0	0	0	1	0	0	17187	1117	39	2	9331	2	VCAN	5	82841391	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	3783664	82841391	98073869	48	1312											
SLC22A5	6584	genome.wustl.edu	37	chr5	131726389	131726389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtttcaggatgaccAtatcagtgggctattttggg	8	14	11	8	0	3	1	2	1	1	0	3	2	3	2	1	3	0	2	1	3	2	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:131726389A>G	ENST00000245407.3	+	7	1281	c.1060A>G	c.(1060-1062)Ata>Gta	p.I354V	SLC22A5_ENST00000435065.2_Missense_Mutation_p.I378V|SLC22A5_ENST00000479605.1_3'UTR	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	354					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CAGGATGACCATATCAGTGGG	0.423																																																	0													166	143	151					5																	131726389		2203	4300	6503	SO:0001583	missense	0			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.1060A>G	5.37:g.131726389A>G	ENSP00000245407:p.Ile354Val		A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.I378V	ENST00000245407.3	37	c.1132	CCDS4154.1	5	.	.	.	.	.	.	.	.	.	.	A	4.343	0.063110	0.08388	.	.	ENSG00000197375	ENST00000245407;ENST00000435065	T;T	0.73789	-0.78;-0.78	5.82	5.82	0.92795	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.040345	0.85682	D	0.000000	T	0.63896	0.2550	N	0.16862	0.45	0.42671	D	0.993518	B;B	0.19331	0.035;0.008	B;B	0.26864	0.074;0.074	T	0.61888	-0.6970	10	0.54805	T	0.06	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	378;354	A2Q0V1;O76082	.;S22A5_HUMAN	V	354;378	ENSP00000245407:I354V;ENSP00000402760:I378V	ENSP00000245407:I354V	I	+	1	0	SLC22A5	131754288	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.406000	0.52637	2.225000	0.72522	0.459000	0.35465	ATA	SLC22A5	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197375		0.423	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1	-	0	84	0	A	NM_003060		131726389	1	tier1	-	no_errors	ENST00000435065	ensembl	human	known	74_37	missense	40.59	60	41	SNP	1.000	G	G	131726389	A	G	131726389	3	3	5	1	0	0	0	0	1	0	0	0	14502	217	8	4	1086	4	SLC22A5	5	131726389	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	48884998	131726389	49188871	49	1313											
KDM3B	51780	genome.wustl.edu	37	chr5	137759773	137759773	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggcagggagtgaagAgcaaggccagcctacccaac	11	5	14	11	0	1	2	0	1	1	1	1	3	1	3	3	3	4	2	3	3	4	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:137759773A>T	ENST00000314358.5	+	16	4182	c.3982A>T	c.(3982-3984)Agc>Tgc	p.S1328C	KDM3B_ENST00000394866.1_Missense_Mutation_p.S984C|KDM3B_ENST00000542866.1_Missense_Mutation_p.S360C	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1328					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGAGTGAAGAGCAAGGCCAG	0.468																																																	0													142	142	142					5																	137759773		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3982A>T	5.37:g.137759773A>T	ENSP00000326563:p.Ser1328Cys		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S1328C	ENST00000314358.5	37	c.3982	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779470	0.70107	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.71579	0.01;-0.58;-0.58	5.95	5.95	0.96441	.	0.390451	0.32372	N	0.006191	T	0.62036	0.2395	L	0.27053	0.805	0.24248	N	0.995336	P;B	0.37276	0.589;0.014	B;B	0.43331	0.416;0.01	T	0.60419	-0.7267	10	0.56958	D	0.05	-8.9879	8.3954	0.32553	0.8509:0.0:0.1491:0.0	.	984;1328	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	C	1328;1118;984;360	ENSP00000326563:S1328C;ENSP00000378335:S984C;ENSP00000439462:S360C	ENSP00000326563:S1328C	S	+	1	0	KDM3B	137787672	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.529000	0.45632	2.276000	0.75962	0.460000	0.39030	AGC	KDM3B	-	NULL	ENSG00000120733		0.468	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	87	0	A	NM_016604		137759773	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	137759773	A	T	137759773	3	4	5	1	0	0	0	0	1	0	0	0	8154	304	11	5	4044	5	KDM3B	5	137759773	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	6033384	137759773	43155487	50	1314											
PCDHA13	56136	genome.wustl.edu	37	chr5	140262494	140262494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatagtttattactgacagCcagtgatggaggtaaacccg	13	10	10	8	1	0	2	0	2	0	0	0	3	0	3	2	2	3	2	2	2	5	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:140262494C>T	ENST00000289272.2	+	1	641	c.641C>T	c.(640-642)gCc>gTc	p.A214V	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A214V|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTACTGACAGCCAGTGATGGA	0.448																																					Melanoma(147;1739 1852 5500 27947 37288)												0													59	60	60					5																	140262494		2203	4300	6503	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.641C>T	5.37:g.140262494C>T	ENSP00000289272:p.Ala214Val		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A214V	ENST00000289272.2	37	c.641	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665196	0.88251	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.52295	0.67;0.67	5.58	5.58	0.84498	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69504	0.3118	M	0.78456	2.415	0.50813	D	0.999897	P;P;P	0.50710	0.891;0.938;0.924	P;P;P	0.62184	0.87;0.899;0.851	T	0.71328	-0.4626	9	0.59425	D	0.04	.	19.1623	0.93539	0.0:1.0:0.0:0.0	.	214;214;214	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	214	ENSP00000386821:A214V;ENSP00000289272:A214V	ENSP00000289272:A214V	A	+	2	0	PCDHA13	140242678	1.000000	0.71417	0.810000	0.32431	0.995000	0.86356	5.987000	0.70571	2.621000	0.88768	0.561000	0.74099	GCC	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.448	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	44	0	C	NM_018904		140262494	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	140262494	C	T	140262494	3	4	5	1	0	0	0	0	1	0	0	0	11562	739	26	3	643	3	PCDHA13	5	140262494	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2502721	140262494	40652766	51	1315											
C5orf4	10826	genome.wustl.edu	37	chr5	154202946	154202946	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaggcagggcctgctcaCcggtgtgaatagtagaacaa	11	7	12	11	1	2	2	2	1	0	1	2	2	2	2	3	3	2	3	3	3	5	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:154202946C>T	ENST00000326080.5	-	6	996		c.e6+1		FAXDC2_ENST00000517938.1_Splice_Site|FAXDC2_ENST00000523997.1_5'Flank	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2						fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										GGCCTGCTCACCGGTGTGAAT	0.577																																																	0													59	61	60					5																	154202946		2096	4230	6326	SO:0001630	splice_region_variant	0			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"Fatty acid hydroxylase domain containing"	1334	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 4"	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.572+1G>A	5.37:g.154202946C>T			B4DIE1|Q9BSX6|Q9H8C7	Splice_Site	SNP	-	e5+1	ENST00000326080.5	37	c.572+1	CCDS43390.1	5	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118266	0.77323	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9297	0.86187	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C5orf4	154183139	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.200000	0.77838	2.216000	0.71823	0.561000	0.74099	.	FAXDC2	-	-	ENSG00000170271		0.577	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXDC2	HGNC	protein_coding	OTTHUMT00000377429.1	-	0	44	0	C	NM_032385	Intron	154202946	-1	tier1	-	no_errors	ENST00000326080	ensembl	human	known	74_37	splice_site	10.53	34	4	SNP	1.000	T	T	154202946	C	T	154202946	5	4	5	1	0	0	0	0	0	0	1	0	2305	521	18	3	444	3	C5orf4	5	154202946	Splice_Site	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	13940452	154202946	26712314	52	1316											
WWC1	23286	genome.wustl.edu	37	chr5	167841531	167841531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagctggagatggccCggaagcggctggaaaaggac	11	4	18	8	2	0	1	0	0	0	1	0	6	0	5	1	7	3	3	1	7	3	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:167841531C>T	ENST00000265293.4	+	9	1622	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	WWC1_ENST00000521089.1_Missense_Mutation_p.R374W	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	374					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAGATGGCCCGGAAGCGGCT	0.647																																																	0													12	12	12					5																	167841531		2173	4248	6421	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1120C>T	5.37:g.167841531C>T	ENSP00000265293:p.Arg374Trp		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.R374W	ENST00000265293.4	37	c.1120	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.514837|4.514837	0.85389|0.85389	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089	.|T;T	.|0.06068	.|3.35;3.35	5.47|5.47	4.52|4.52	0.55395|0.55395	.|.	.|0.068019	.|0.64402	.|D	.|0.000008	T|T	0.19167|0.19167	0.0460|0.0460	M|M	0.66297|0.66297	2.02|2.02	0.45161|0.45161	D|D	0.998178|0.998178	.|D;D;D;D	.|0.71674	.|0.997;0.998;0.998;0.997	.|P;D;D;P	.|0.65323	.|0.897;0.928;0.934;0.861	T|T	0.00052|0.00052	-1.2190|-1.2190	5|10	.|0.72032	.|D	.|0.01	.|.	10.9744|10.9744	0.47456|0.47456	0.4158:0.5842:0.0:0.0|0.4158:0.5842:0.0:0.0	.|.	.|374;280;280;374	.|Q8IX03-2;F5H498;B3KX05;Q8IX03	.|.;.;.;KIBRA_HUMAN	L|W	335;150|374	.|ENSP00000265293:R374W;ENSP00000427772:R374W	.|ENSP00000265293:R374W	P|R	+|+	2|1	0|2	WWC1|WWC1	167774109|167774109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.507000|5.507000	0.66999|0.66999	2.563000|2.563000	0.86464|0.86464	0.655000|0.655000	0.94253|0.94253	CCG|CGG	WWC1	-	NULL	ENSG00000113645		0.647	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	-	0	70	0	C	NM_015238		167841531	1	tier1	-	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	41.89	43	31	SNP	1.000	T	T	167841531	C	T	167841531	3	4	5	1	0	0	0	0	1	0	0	0	17460	643	23	1	1154	1	WWC1	5	167841531	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	13638585	167841531	13073729	53	1317											
RARS	5917	genome.wustl.edu	37	chr5	167919693	167919693	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaaaggaacaaaccaacTaaaaatatgattaacattat	22	8	5	6	0	0	2	0	1	0	1	0	3	0	3	1	1	4	1	1	1	10	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:167919693T>A	ENST00000231572.3	+	3	264	c.210T>A	c.(208-210)acT>acA	p.T70T	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	70	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACAAACCAACTAAAAATATGA	0.373																																																	0													94	96	95					5																	167919693		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.210T>A	5.37:g.167919693T>A			B2RBS9|Q53GY4|Q9BWA1	Silent	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.T70	ENST00000231572.3	37	c.210	CCDS4367.1	5																																																																																			RARS	-	superfamily_Arg-tRNA-synth_N	ENSG00000113643		0.373	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	-	0	69	0	T	NM_002887		167919693	1	tier1	-	no_errors	ENST00000231572	ensembl	human	known	74_37	silent	29.31	41	17	SNP	0.005	A	A	167919693	T	A	167919693	2	1	5	1	0	0	0	0	0	0	0	1	13103	1509	53	5		5	RARS	5	167919693	Silent	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	78162	167919693	12995567	54	1318											
GPRIN1	114787	genome.wustl.edu	37	chr5	176025587	176025587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttcccagagaaactggatCcaccttgcctgaagacatgg	11	9	9	12	0	0	3	0	1	0	2	2	5	2	4	4	2	2	0	4	2	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:176025587C>T	ENST00000303991.4	-	2	1426	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	417					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAACTGGATCCACCTTGCCT	0.532																																																	0													68	62	64					5																	176025587		2203	4300	6503	SO:0001583	missense	0			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1249G>A	5.37:g.176025587C>T	ENSP00000305839:p.Asp417Asn		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.D417N	ENST00000303991.4	37	c.1249	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071804	0.36566	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.14022	2.54	5.07	4.21	0.49690	.	0.472647	0.15597	N	0.254135	T	0.18130	0.0435	L	0.52573	1.65	0.09310	N	1	D	0.53462	0.96	P	0.51229	0.663	T	0.08827	-1.0703	10	0.23891	T	0.37	-0.0805	7.5652	0.27874	0.0:0.8075:0.0:0.1925	.	417	Q7Z2K8	GRIN1_HUMAN	N	417	ENSP00000305839:D417N	ENSP00000305839:D417N	D	-	1	0	GPRIN1	175958193	0.001000	0.12720	0.002000	0.10522	0.015000	0.08874	0.806000	0.27126	1.144000	0.42321	0.455000	0.32223	GAT	GPRIN1	-	NULL	ENSG00000169258		0.532	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1	-	0	20	0	C	NM_052899		176025587	-1	tier1	-	no_errors	ENST00000303991	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.002	T	T	176025587	C	T	176025587	3	4	5	1	0	0	0	0	1	0	0	0	6756	855	30	3	1781	3	GPRIN1	5	176025587	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	8105894	176025587	4889673	55	1319											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178634592	178634592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagagtcatccacgcccagCaggacctcgatgttgtagtc	10	8	10	13	2	1	1	1	0	0	1	4	3	2	2	3	1	1	3	3	1	1	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr5:178634592C>T	ENST00000251582.7	-	4	914	c.813G>A	c.(811-813)ctG>ctA	p.L271L	ADAMTS2_ENST00000274609.5_Silent_p.L271L	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	271	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCACGCCCAGCAGGACCTCGA	0.627																																																	0													182	151	162					5																	178634592		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.813G>A	5.37:g.178634592C>T				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.L271	ENST00000251582.7	37	c.813	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000087116		0.627	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	61	0	C	NM_014244		178634592	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	T	T	178634592	C	T	178634592	2	4	5	1	0	0	0	0	0	0	0	1	265	697	25	3		3	ADAMTS2	5	178634592	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2609005	178634592	2280668	56	1320											
SSR1	6745	genome.wustl.edu	37	chr6	7290165	7290165	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcttggtgaagctttatCtggaagaaaagagaaagttt	13	13	10	5	0	2	3	0	1	2	2	2	5	2	4	1	2	1	2	1	2	6	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:7290165C>T	ENST00000244763.4	-	8	880		c.e8-1		SSR1_ENST00000489567.1_Splice_Site|SSR1_ENST00000534851.1_Splice_Site|SSR1_ENST00000397511.2_Splice_Site|SSR1_ENST00000474597.1_Splice_Site|SSR1_ENST00000479365.1_Splice_Site|RP11-69L16.4_ENST00000379928.4_RNA	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|positive regulation of cell proliferation (GO:0008284)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					GAAGCTTTATCTGGAAGAAAA	0.358																																																	0													83	75	78					6																	7290165		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4499.1	6p24.3	2010-11-24	2008-08-26		ENSG00000124783	ENSG00000124783			11323	protein-coding gene	gene with protein product	"translocon-associated protein alpha"	600868					Standard	NM_001292008		Approved	TRAPA	uc003mxf.4	P43307	OTTHUMG00000014202	ENST00000244763.4:c.794-1G>A	6.37:g.7290165C>T			A8K685|Q53GX2|Q53H19|Q5TAM3|Q6IB43|Q8NBH9|Q96IA2|Q9TNQ8|Q9UN49	Splice_Site	SNP	-	e8-1	ENST00000244763.4	37	c.794-1	CCDS4499.1	6	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528817	0.64860	.	.	ENSG00000124783	ENST00000474597;ENST00000244763;ENST00000397511;ENST00000534851;ENST00000489567	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1931	0.89813	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SSR1	7235164	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.053000	0.71089	2.527000	0.85204	0.563000	0.77884	.	SSR1	-	-	ENSG00000124783		0.358	SSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR1	HGNC	protein_coding	OTTHUMT00000039775.2	-	0	23	0	C		Intron	7290165	-1	tier1	-	no_errors	ENST00000244763	ensembl	human	known	74_37	splice_site	73.33	4	11	SNP	1.000	T	T	7290165	C	T	7290165	5	4	5	1	0	0	0	0	0	0	1	0	15237	927	32	3	71	3	SSR1	6	7290165	Splice_Site	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		7290165	163824902	57	1321											
LRRC16A	55604	genome.wustl.edu	37	chr6	25540196	25540196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttaccaaatttataccatGttggtggtgcatcttgggcg	8	15	11	7	1	1	0	0	0	1	0	1	0	1	0	2	3	3	3	2	3	4	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:25540196G>T	ENST00000329474.6	+	26	2586	c.2218G>T	c.(2218-2220)Gtt>Ttt	p.V740F		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	740					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTTATACCATGTTGGTGGTGC	0.398																																																	0													62	57	59					6																	25540196		1834	4091	5925	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2218G>T	6.37:g.25540196G>T	ENSP00000331983:p.Val740Phe		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V740F	ENST00000329474.6	37	c.2218	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060774	0.55432	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.17054	2.3	5.93	5.93	0.95920	.	0.158654	0.43919	D	0.000501	T	0.07818	0.0196	L	0.29908	0.895	0.80722	D	1	P;P;P;P	0.44090	0.608;0.734;0.826;0.734	B;B;B;B	0.39419	0.235;0.235;0.299;0.235	T	0.07908	-1.0748	10	0.45353	T	0.12	.	14.4883	0.67631	0.0:0.255:0.745:0.0	.	740;740;740;740	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	F	740	ENSP00000331983:V740F	ENSP00000331983:V740F	V	+	1	0	LRRC16A	25648175	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.123000	0.57917	2.803000	0.96430	0.650000	0.86243	GTT	LRRC16A	-	NULL	ENSG00000079691		0.398	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2		0	56	0	G	NM_017640		25540196	1			no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	16.00	21	4	SNP	1.000	T	T	25540196	G	T	25540196	3	4	5	1	0	0	0	0	1	0	0	0	9006	1377	48	3	2320	3	LRRC16A	6	25540196	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	18250031	25540196	145574871	58	1322											
CUTA	8831	genome.wustl.edu	37	chr6	33385901	33385901	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattagaaaacagcgcgcacCatgtgacagtagaagaagga	17	5	12	7	2	0	4	0	1	0	3	0	6	0	5	1	1	2	2	1	1	6	2	rs368867314		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:33385901C>T	ENST00000418600.2	+	0	0				CUTA_ENST00000374500.5_Nonsense_Mutation_p.W21*|CUTA_ENST00000607266.1_5'Flank|CUTA_ENST00000374496.3_5'Flank|CUTA_ENST00000492510.1_5'UTR|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000494751.1_5'Flank|CUTA_ENST00000440279.3_5'Flank|CUTA_ENST00000488478.1_5'Flank|CUTA_ENST00000488034.1_5'Flank	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CAGCGCGCACCATGTGACAGT	0.577																																																	0								C	stop/TRP,,,,	0,4406		0,0,2203	92	91	91		62,,,,	5.4	1	6		91	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,utr-5,utr-5,utr-5,utr-5	CUTA	NM_001014433.2,NM_001014837.1,NM_001014838.1,NM_001014840.1,NM_015921.2	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	21/199,,,,	33385901	1,13005	2203	4300	6503	SO:0001631	upstream_gene_variant	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096		6.37:g.33385901C>T	Exception_encountered		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Nonsense_Mutation	SNP	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b	p.W21*	ENST00000418600.2	37	c.62	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838096	0.91117	0.0	1.16E-4	ENSG00000112514	ENST00000374500	.	.	.	5.38	5.38	0.77491	.	0.336075	0.24363	N	0.039168	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.4824	14.5099	0.67776	0.0:1.0:0.0:0.0	.	.	.	.	X	21	.	.	W	-	2	0	CUTA	33493879	0.978000	0.34361	0.997000	0.53966	0.732000	0.41865	1.859000	0.39418	2.813000	0.96785	0.655000	0.94253	TGG	CUTA	-	NULL	ENSG00000112514		0.577	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTA	HGNC	protein_coding	OTTHUMT00000076151.4	-	0	94	0	C	XM_166407		33385901	-1	tier1	-	no_errors	ENST00000374500	ensembl	human	known	74_37	nonsense	6.77	124	9	SNP	0.999	T	T	33385901	C	T	33385901	1	4	5	0	1	0	0	0	0	0	0	0	4071	595	21	3		3	CUTA	6	33385901	5'Flank	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	7845705	33385901	137729166	59	1323											
HCRTR2	3062	genome.wustl.edu	37	chr6	55039443	55039443	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaactggtcatctgcttcgGagctgaatgaaactcaagag	12	9	11	9	1	3	3	2	2	1	1	4	4	3	4	0	2	4	3	0	2	4	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:55039443G>T	ENST00000370862.3	+	1	394	c.58G>T	c.(58-60)Gag>Tag	p.E20*		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	20					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATCTGCTTCGGAGCTGAATGA	0.542																																																	0													123	116	118					6																	55039443		2203	4300	6503	SO:0001587	stop_gained	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.58G>T	6.37:g.55039443G>T	ENSP00000359899:p.Glu20*		Q5VTM0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.E20*	ENST00000370862.3	37	c.58	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	41	9.065150	0.99053	.	.	ENSG00000137252	ENST00000370862	.	.	.	4.99	4.99	0.66335	.	0.193489	0.45361	D	0.000362	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.47	0.90769	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000359899:E20X	E	+	1	0	HCRTR2	55147402	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	7.257000	0.78362	2.599000	0.87857	0.563000	0.77884	GAG	HCRTR2	-	NULL	ENSG00000137252		0.542	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0	79	0	G			55039443	1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	nonsense	13.16	198	30	SNP	1.000	T	T	55039443	G	T	55039443	4	4	5	1	0	0	0	0	0	1	0	0	7029	1175	41	3	60	3	HCRTR2	6	55039443	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	21653542	55039443	116075624	60	1324											
ORC3L	23595	genome.wustl.edu	37	chr6	88372778	88372778	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggtgtacttcagtgcTgcccatgcccttcgtgagca	6	11	13	11	1	1	1	1	1	0	0	2	2	1	1	2	2	5	3	2	2	1	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:88372778T>C	ENST00000392844.3	+	17	1797	c.1749T>C	c.(1747-1749)gcT>gcC	p.A583A	ORC3_ENST00000546266.1_Silent_p.A440A|ORC3_ENST00000257789.4_Silent_p.A584A	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	583					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						ACTTCAGTGCTGCCCATGCCC	0.468																																																	0													107	89	95					6																	88372778		2203	4300	6503	SO:0001819	synonymous_variant	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1749T>C	6.37:g.88372778T>C			A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	pfam_ORC3	p.A584	ENST00000392844.3	37	c.1752	CCDS43486.1	6																																																																																			ORC3	-	NULL	ENSG00000135336		0.468	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	-	0	94	0	T			88372778	1	tier1	-	no_errors	ENST00000257789	ensembl	human	known	74_37	silent	41.25	47	33	SNP	0.820	C	C	88372778	T	C	88372778	2	2	5	1	0	0	0	0	0	0	0	1	11302	1567	55	4		4	ORC3L	6	88372778	Silent	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	33333335	88372778	82742289	61	1325											
MDN1	23195	genome.wustl.edu	37	chr6	90399740	90399740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaattgctggtgtatcagCattactgcctgcattgaatt	10	14	8	9	0	1	1	1	1	0	0	1	1	1	1	1	1	5	4	1	1	4	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:90399740C>T	ENST00000369393.3	-	65	10987	c.10872G>A	c.(10870-10872)atG>atA	p.M3624I	MDN1_ENST00000428876.1_Missense_Mutation_p.M3624I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3624					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGTATCAGCATTACTGCCT	0.493																																																	0													177	140	153					6																	90399740		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10872G>A	6.37:g.90399740C>T	ENSP00000358400:p.Met3624Ile		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.M3624I	ENST00000369393.3	37	c.10872	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	7.548	0.662012	0.14645	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.02890	4.12;4.12	5.84	5.84	0.93424	.	0.199584	0.52532	D	0.000063	T	0.02455	0.0075	M	0.63428	1.95	0.42321	D	0.99225	B	0.15473	0.013	B	0.11329	0.006	T	0.50524	-0.8818	10	0.21014	T	0.42	.	20.1216	0.97962	0.0:1.0:0.0:0.0	.	3624	Q9NU22	MDN1_HUMAN	I	3624	ENSP00000358400:M3624I;ENSP00000413970:M3624I	ENSP00000358400:M3624I	M	-	3	0	MDN1	90456461	0.999000	0.42202	0.988000	0.46212	0.050000	0.14768	2.215000	0.42862	2.762000	0.94881	0.563000	0.77884	ATG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	51	0	C			90399740	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.988	T	T	90399740	C	T	90399740	3	4	5	1	0	0	0	0	1	0	0	0	9453	710	25	3	6070	3	MDN1	6	90399740	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2026962	90399740	80715327	62	1326											
SOBP	55084	genome.wustl.edu	37	chr6	107908317	107908317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggacatgctgaaaattttCcccagcagcactatgctaag	13	10	8	10	0	0	1	0	1	0	0	1	2	1	2	2	1	4	4	2	1	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:107908317C>T	ENST00000317357.5	+	5	1266	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TGAAAATTTTCCCCAGCAGCA	0.368																																																	0													173	163	166					6																	107908317		1850	4095	5945	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.607C>T	6.37:g.107908317C>T	ENSP00000318900:p.Pro203Ser			Missense_Mutation	SNP	NULL	p.P203S	ENST00000317357.5	37	c.607	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973349	0.53614	.	.	ENSG00000112320	ENST00000317357	T	0.18174	2.23	5.86	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.09291	0.0229	L	0.47716	1.5	0.58432	D	0.999992	B	0.27166	0.17	B	0.23419	0.046	T	0.03166	-1.1065	10	0.87932	D	0	-3.9517	14.9773	0.71283	0.0:0.9318:0.0:0.0682	.	203	A7XYQ1	SOBP_HUMAN	S	203	ENSP00000318900:P203S	ENSP00000318900:P203S	P	+	1	0	SOBP	108015010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.801000	0.75170	1.490000	0.48466	0.655000	0.94253	CCC	SOBP	-	NULL	ENSG00000112320		0.368	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2		0	59	0	C	NM_018013		107908317	1			no_errors	ENST00000317357	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	107908317	C	T	107908317	3	4	5	1	0	0	0	0	1	0	0	0	14957	855	30	3	625	3	SOBP	6	107908317	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	17508577	107908317	63206750	63	1327											
LAMA4	3910	genome.wustl.edu	37	chr6	112506519	112506519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtatctttcttagggCgtattggttttctctttctg	4	22	9	6	1	4	0	0	0	4	0	5	1	4	0	0	2	0	3	0	2	3	9	rs576711704		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:112506519C>T	ENST00000230538.7	-	9	1394	c.997G>A	c.(997-999)Gcc>Acc	p.A333T	LAMA4_ENST00000389463.4_Missense_Mutation_p.A326T|LAMA4_ENST00000424408.2_Missense_Mutation_p.A326T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A326T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	333	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTAGGGCGTATTGGTTT	0.358																																																	0													325	261	283					6																	112506519		2203	4300	6503	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.997G>A	6.37:g.112506519C>T	ENSP00000230538:p.Ala333Thr		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.A333T	ENST00000230538.7	37	c.997	CCDS43491.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.585861|1.585861	0.28268|0.28268	.|.	.|.	ENSG00000112769|ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881|ENST00000521732	T;T;T;T|.	0.10005|.	2.92;2.92;2.92;2.92|.	5.44|5.44	-0.216|-0.216	0.13153|0.13153	Laminin I (1);|.	0.738651|.	0.13538|.	N|.	0.380437|.	T|T	0.07999|0.07999	0.0200|0.0200	N|N	0.03608|0.03608	-0.345|-0.345	0.53005|0.53005	D|D	0.999962|0.999962	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.11792|0.11792	-1.0573|-1.0573	10|5	0.15499|.	T|.	0.54|.	.|.	5.194|5.194	0.15225|0.15225	0.0:0.4433:0.1472:0.4095|0.0:0.4433:0.1472:0.4095	.|.	333;326|.	Q16363;Q16363-2|.	LAMA4_HUMAN;.|.	T|H	333;326;326;326;333|145	ENSP00000230538:A333T;ENSP00000429488:A326T;ENSP00000374114:A326T;ENSP00000416470:A326T|.	ENSP00000230538:A333T|.	A|R	-|-	1|2	0|0	LAMA4|LAMA4	112613212|112613212	0.215000|0.215000	0.23574|0.23574	0.943000|0.943000	0.38184|0.38184	0.976000|0.976000	0.68499|0.68499	-0.116000|-0.116000	0.10724|0.10724	0.112000|0.112000	0.17975|0.17975	0.655000|0.655000	0.94253|0.94253	GCC|CGC	LAMA4	-	pfam_Laminin_I	ENSG00000112769		0.358	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2		0	72	0	C	NM_001105206		112506519	-1			no_errors	ENST00000230538	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.877	T	T	112506519	C	T	112506519	3	4	5	1	0	0	0	0	1	0	0	0	8636	768	27	1	4598	1	LAMA4	6	112506519	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	4598202	112506519	58608548	64	1328											
GPRC6A	222545	genome.wustl.edu	37	chr6	117128197	117128197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattataaaagtgttaagaGccaatcgtccatagtcatca	16	11	7	7	1	2	1	2	0	0	1	4	2	3	1	2	0	1	1	2	0	7	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:117128197G>A	ENST00000310357.3	-	3	692	c.671C>T	c.(670-672)gCt>gTt	p.A224V	GPRC6A_ENST00000530250.1_Missense_Mutation_p.A224V|GPRC6A_ENST00000368549.3_Missense_Mutation_p.A224V	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	224					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGTGTTAAGAGCCAATCGTCC	0.398																																																	0													180	182	181					6																	117128197		2203	4300	6503	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.671C>T	6.37:g.117128197G>A	ENSP00000309493:p.Ala224Val		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.A224V	ENST00000310357.3	37	c.671	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340817	0.60963	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	T;T;T	0.81078	-1.45;-1.45;-1.45	6.05	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.111999	0.39687	N	0.001300	D	0.84424	0.5469	M	0.64170	1.965	0.25853	N	0.983918	D;D;D	0.89917	0.992;1.0;0.988	P;D;P	0.74348	0.892;0.983;0.896	T	0.77153	-0.2692	10	0.41790	T	0.15	.	16.8541	0.86001	0.0:0.1281:0.8719:0.0	.	224;224;224	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	V	224	ENSP00000309493:A224V;ENSP00000357537:A224V;ENSP00000433465:A224V	ENSP00000309493:A224V	A	-	2	0	GPRC6A	117234890	1.000000	0.71417	0.967000	0.41034	0.454000	0.32378	4.012000	0.57131	2.880000	0.98712	0.655000	0.94253	GCT	GPRC6A	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000173612		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	-	0	58	0	G			117128197	-1	tier1	-	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.945	A	A	117128197	G	A	117128197	3	1	5	1	0	0	0	0	1	0	0	0	6755	971	34	3	2125	3	GPRC6A	6	117128197	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	4621678	117128197	53986870	65	1329											
C6orf58	352999	genome.wustl.edu	37	chr6	127911356	127911356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataagttccagaagggcatgCcaccacgaattcttcttaat	13	11	7	10	1	2	1	0	0	2	1	3	2	3	1	3	1	1	2	3	1	4	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:127911356C>T	ENST00000329722.7	+	5	811	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	267						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GAAGGGCATGCCACCACGAAT	0.413																																																	0													168	166	167					6																	127911356		2203	4300	6503	SO:0001583	missense	0			BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.799C>T	6.37:g.127911356C>T	ENSP00000328069:p.Pro267Ser		B4E1I0|Q5VUP2	Missense_Mutation	SNP	pfam_DUF781	p.P267S	ENST00000329722.7	37	c.799	CCDS34533.1	6	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799688	0.31869	.	.	ENSG00000184530	ENST00000329722	T	0.70749	-0.51	5.01	3.22	0.36961	.	0.000000	0.85682	D	0.000000	T	0.76751	0.4031	M	0.87547	2.89	0.40038	D	0.97561	D	0.69078	0.997	D	0.63283	0.913	T	0.79266	-0.1874	10	0.87932	D	0	-27.7239	8.1391	0.31071	0.0:0.8232:0.0:0.1768	.	267	Q6P5S2	CF058_HUMAN	S	267	ENSP00000328069:P267S	ENSP00000328069:P267S	P	+	1	0	C6orf58	127953049	0.981000	0.34729	0.402000	0.26371	0.201000	0.24016	1.351000	0.34022	0.698000	0.31739	0.655000	0.94253	CCA	C6orf58	-	pfam_DUF781	ENSG00000184530		0.413	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf58	HGNC	protein_coding	OTTHUMT00000042152.1	-	0	62	0	C	NM_001010905		127911356	1	tier1	-	no_errors	ENST00000329722	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.820	T	T	127911356	C	T	127911356	3	4	5	1	0	0	0	0	1	0	0	0	2374	739	26	3	817	3	C6orf58	6	127911356	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	10783159	127911356	43203711	66	1330											
LAMA2	3908	genome.wustl.edu	37	chr6	129766888	129766888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaactcaaacccatcaaGgaacttgaggataacctaaa	19	7	6	9	0	2	1	2	1	0	0	2	4	2	3	2	2	4	0	2	2	8	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:129766888G>T	ENST00000421865.2	+	45	6400	c.6351G>T	c.(6349-6351)aaG>aaT	p.K2117N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2117	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACCCATCAAGGAACTTGAGG	0.383																																																	0													66	62	63					6																	129766888		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.6351G>T	6.37:g.129766888G>T	ENSP00000400365:p.Lys2117Asn		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.K2117N	ENST00000421865.2	37	c.6351	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496883	0.64186	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.52057	0.68	5.23	2.37	0.29283	Laminin II (1);	0.100285	0.64402	D	0.000003	T	0.37433	0.1003	L	0.46741	1.465	0.33735	D	0.618709	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.25363	-1.0134	10	0.26408	T	0.33	.	4.0275	0.09693	0.345:0.0:0.4937:0.1612	.	2118;2117	A6NF00;P24043	.;LAMA2_HUMAN	N	2117;2116;2117;135	ENSP00000400365:K2117N	ENSP00000346769:K2116N	K	+	3	2	LAMA2	129808581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.360000	0.44151	0.566000	0.29273	0.655000	0.94253	AAG	LAMA2	-	pfam_Laminin_II	ENSG00000196569		0.383	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	29	0	G			129766888	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	129766888	G	T	129766888	3	4	5	1	0	0	0	0	1	0	0	0	8634	991	35	3	6529	3	LAMA2	6	129766888	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1855532	129766888	41348179	67	1331											
MED23	9439	genome.wustl.edu	37	chr6	131926512	131926512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaatagtttctaccagaGctcccatgggtaatgtaaaa	15	11	7	8	0	1	1	0	0	1	1	2	1	2	1	2	1	2	4	2	1	7	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:131926512G>C	ENST00000368068.3	-	14	1660	c.1481C>G	c.(1480-1482)gCt>gGt	p.A494G	MED23_ENST00000368053.4_Missense_Mutation_p.A500G|MED23_ENST00000354577.4_Missense_Mutation_p.A500G|MED23_ENST00000539158.1_Intron|MED23_ENST00000368060.3_Missense_Mutation_p.A494G|MED23_ENST00000545957.1_Missense_Mutation_p.A135G|MED23_ENST00000368058.1_Missense_Mutation_p.A500G|MED23_ENST00000403834.3_Missense_Mutation_p.A500G|MED23_ENST00000540546.1_Missense_Mutation_p.A500G	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	494					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TTCTACCAGAGCTCCCATGGG	0.363																																																	0													90	88	89					6																	131926512		2202	4300	6502	SO:0001583	missense	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1481C>G	6.37:g.131926512G>C	ENSP00000357047:p.Ala494Gly		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Missense_Mutation	SNP	pfam_Mediator_Med23	p.A500G	ENST00000368068.3	37	c.1499	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448453	0.63178	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546	T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.87	4.89	0.63831	.	0.102686	0.64402	D	0.000003	T	0.59500	0.2198	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.30114	0.269;0.033;0.269;0.227	B;B;B;B	0.35899	0.213;0.028;0.213;0.135	T	0.66559	-0.5893	10	0.72032	D	0.01	2.8304	3.8985	0.09150	0.3226:0.0:0.6774:0.0	.	135;500;494;500	B4E3G4;Q9ULK4-2;Q9ULK4;Q9ULK4-3	.;.;MED23_HUMAN;.	G	500;494;500;494;500;135;500;500	ENSP00000346588:A500G;ENSP00000357047:A494G;ENSP00000384536:A500G;ENSP00000357039:A494G;ENSP00000357037:A500G;ENSP00000439977:A135G;ENSP00000357032:A500G;ENSP00000437818:A500G	ENSP00000346588:A500G	A	-	2	0	MED23	131968205	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.463000	0.73530	2.779000	0.95612	0.591000	0.81541	GCT	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.363	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	-	0	67	0	G			131926512	-1	tier1	-	no_errors	ENST00000368058	ensembl	human	known	74_37	missense	37.93	36	22	SNP	1.000	C	C	131926512	G	C	131926512	3	2	5	1	0	0	0	0	1	0	0	0	9479	971	34	5	2696	5	MED23	6	131926512	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	2159624	131926512	39188555	68	1332											
ENPP3	5169	genome.wustl.edu	37	chr6	132054827	132054827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgttccttctatttagcaGacaagaatatcacccacggc	13	11	6	11	1	2	2	1	0	1	2	3	2	3	2	2	1	1	2	2	1	6	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:132054827G>A	ENST00000414305.1	+	22	2381	c.2053G>A	c.(2053-2055)Gac>Aac	p.D685N	ENPP3_ENST00000357639.3_Missense_Mutation_p.D685N|ENPP3_ENST00000358229.5_Intron			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	685	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTATTTAGCAGACAAGAATAT	0.498																																																	0													125	121	123					6																	132054827		2203	4300	6503	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2053G>A	6.37:g.132054827G>A	ENSP00000406261:p.Asp685Asn		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.D685N	ENST00000414305.1	37	c.2053	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	8.305	0.820835	0.16678	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.69040	-0.37;-0.37	5.91	4.12	0.48240	DNA/RNA non-specific endonuclease (1);Extracellular Endonuclease, subunit A (2);	0.560417	0.18900	N	0.128078	T	0.31979	0.0814	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.14023	0.01	T	0.14924	-1.0455	10	0.09338	T	0.73	-14.0502	11.4296	0.50032	0.0678:0.139:0.7932:0.0	.	685	O14638	ENPP3_HUMAN	N	685	ENSP00000406261:D685N;ENSP00000350265:D685N	ENSP00000350265:D685N	D	+	1	0	ENPP3	132096520	0.988000	0.35896	1.000000	0.80357	0.936000	0.57629	3.698000	0.54771	0.807000	0.34208	0.460000	0.39030	GAC	ENPP3	-	smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000154269		0.498	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2		0	94	0	G			132054827	1			no_errors	ENST00000357639	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.809	A	A	132054827	G	A	132054827	3	1	5	1	0	0	0	0	1	0	0	0	5147	942	33	3	2135	3	ENPP3	6	132054827	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	128315	132054827	39060240	69	1333											
SYNE1	23345	genome.wustl.edu	37	chr6	152577787	152577787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgggatgaaacctcctcGaaggcttggttcagtccatc	9	10	10	12	1	1	1	1	1	0	0	5	3	3	2	4	3	1	2	4	3	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr6:152577787G>A	ENST00000367255.5	-	102	19687	c.19086C>T	c.(19084-19086)ttC>ttT	p.F6362F	SYNE1_ENST00000423061.1_Silent_p.F6291F|SYNE1_ENST00000341594.5_Silent_p.F5974F|SYNE1_ENST00000265368.4_Silent_p.F6362F|SYNE1_ENST00000356820.4_Silent_p.F886F|SYNE1_ENST00000448038.1_Silent_p.F6291F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6362					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAACCTCCTCGAAGGCTTGGT	0.463										HNSCC(10;0.0054)																																							0													145	120	128					6																	152577787		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19086C>T	6.37:g.152577787G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.F6362	ENST00000367255.5	37	c.19086	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	83	0	G	NM_182961		152577787	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.058	A	A	152577787	G	A	152577787	2	1	5	1	0	0	0	0	0	0	0	1	15492	1049	37	1		1	SYNE1	6	152577787	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	20522960	152577787	18537280	70	1334											
MICALL2	79778	genome.wustl.edu	37	chr7	1477570	1477570	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcagaagctgcttctcGtgaatgagccagaaccagtc	11	8	10	12	1	2	4	1	2	1	2	4	4	2	4	2	0	5	3	2	0	3	1	rs200430226	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:1477570G>C	ENST00000297508.7	-	13	2533	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q	MICALL2_ENST00000405088.4_Missense_Mutation_p.H574Q|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	786	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCTGCTTCTCGTGAATGAGCC	0.637																																																	0													40	39	39					7																	1477570		2101	4129	6230	SO:0001583	missense	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2358C>G	7.37:g.1477570G>C	ENSP00000297508:p.His786Gln		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.H786Q	ENST00000297508.7	37	c.2358	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378489	0.24944	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.42900	0.96;0.96	3.62	-4.44	0.03557	Domain of unknown function DUF3585 (1);	0.000000	0.38005	N	0.001860	T	0.46054	0.1373	L	0.33293	1	0.26714	N	0.970911	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	T	0.49418	-0.8942	10	0.49607	T	0.09	.	12.8527	0.57867	0.6814:0.0:0.3186:0.0	.	786;574;375	Q8IY33;D3YTD2;Q8IY33-3	MILK2_HUMAN;.;.	Q	574;786	ENSP00000385928:H574Q;ENSP00000297508:H786Q	ENSP00000297508:H786Q	H	-	3	2	MICALL2	1444096	0.001000	0.12720	0.847000	0.33407	0.258000	0.26162	-1.420000	0.02457	-0.974000	0.03550	-0.258000	0.10820	CAC	MICALL2	-	pfam_DUF3585	ENSG00000164877		0.637	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2		0	29	0	G	NM_182924		1477570	-1			no_errors	ENST00000297508	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.476	C	C	1477570	G	C	1477570	3	2	5	1	0	0	0	0	1	0	0	0	9612	1136	40	5	376	5	MICALL2	7	1477570	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		1477570	157661093	71	1335											
SDK1	221935	genome.wustl.edu	37	chr7	4050653	4050653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatgacaggcgtcacCgtgagtggcctgactccggc	7	7	14	13	3	1	4	1	4	0	1	2	5	2	4	4	3	0	0	4	3	0	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:4050653C>T	ENST00000404826.2	+	15	2326	c.2187C>T	c.(2185-2187)acC>acT	p.T729T	SDK1_ENST00000389531.3_Silent_p.T729T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	729	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGCGTCACCGTGAGTGGCC	0.552																																																	0													69	63	65					7																	4050653		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2187C>T	7.37:g.4050653C>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T729	ENST00000404826.2	37	c.2187	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	64	0	C	NM_152744		4050653	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	28.77	52	21	SNP	0.450	T	T	4050653	C	T	4050653	2	4	5	1	0	0	0	0	0	0	0	1	14013	639	23	1		1	SDK1	7	4050653	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2573083	4050653	155088010	72	1336											
HDAC9	9734	genome.wustl.edu	37	chr7	18687497	18687497	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagtatggaggcagcatCccggcatcttccagccaccc	8	6	12	15	1	1	0	0	0	1	0	3	1	3	1	4	4	2	5	4	4	1	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:18687497C>A	ENST00000432645.2	+	9	1116	c.1116C>A	c.(1114-1116)atC>atA	p.I372I	HDAC9_ENST00000428307.2_Silent_p.I328I|HDAC9_ENST00000456174.2_Silent_p.I344I|HDAC9_ENST00000441542.2_Silent_p.I375I|HDAC9_ENST00000406072.1_Silent_p.I359I|HDAC9_ENST00000405010.3_Silent_p.I372I|HDAC9_ENST00000524023.1_Silent_p.I295I|HDAC9_ENST00000401921.1_Silent_p.I331I|HDAC9_ENST00000417496.2_Silent_p.I370I|HDAC9_ENST00000406451.4_Silent_p.I372I	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	372					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGGCAGCATCCCGGCATCTT	0.507																																																	0													38	41	40					7																	18687497		2076	4220	6296	SO:0001819	synonymous_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1116C>A	7.37:g.18687497C>A			A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.I375	ENST00000432645.2	37	c.1125	CCDS47555.1	7																																																																																			HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.507	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0	56	0	C			18687497	1			no_errors	ENST00000441542	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.048	A	A	18687497	C	A	18687497	2	1	5	1	0	0	0	0	0	0	0	1	7041	845	30	3		3	HDAC9	7	18687497	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	14636844	18687497	140451166	73	1337											
AKAP9	10142	genome.wustl.edu	37	chr7	91631632	91631632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactcctgttagccaagaaGaaagattgattttcttagac	14	13	7	7	0	1	5	0	1	1	4	2	5	2	5	2	0	2	1	2	0	6	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:91631632G>A	ENST00000359028.2	+	9	2662	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	AKAP9_ENST00000358100.2_Missense_Mutation_p.E813K|AKAP9_ENST00000356239.3_Missense_Mutation_p.E801K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	813	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGCCAAGAAGAAAGATTGAT	0.333			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													70	77	75					7																	91631632		2203	4296	6499	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2437G>A	7.37:g.91631632G>A	ENSP00000351922:p.Glu813Lys		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.E813K	ENST00000359028.2	37	c.2437		7	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933737	0.52866	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03801	3.81;3.81;3.8	5.68	5.68	0.88126	.	0.000000	0.41500	D	0.000869	T	0.17365	0.0417	L	0.48362	1.52	0.42466	D	0.992801	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.80764	0.994;0.991;0.991;0.98	T	0.00038	-1.2246	10	0.59425	D	0.04	.	18.3281	0.90260	0.0:0.0:1.0:0.0	.	813;801;801;813	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	K	801;813;813;813;813	ENSP00000348573:E801K;ENSP00000351922:E813K;ENSP00000350813:E813K	ENSP00000348573:E801K	E	+	1	0	AKAP9	91469568	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.994000	0.63901	2.834000	0.97654	0.655000	0.94253	GAA	AKAP9	-	NULL	ENSG00000127914		0.333	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	83	0	G	NM_005751		91631632	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	32.18	59	28	SNP	1.000	A	A	91631632	G	A	91631632	3	1	5	1	0	0	0	0	1	0	0	0	459	943	33	3	2431	3	AKAP9	7	91631632	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	72944135	91631632	67507031	74	1338											
ZNF789	285989	genome.wustl.edu	37	chr7	99084263	99084263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagttgcaggcttactttcCctactagtggtgatgaatac	10	13	9	9	0	0	2	0	2	0	0	1	2	1	2	1	2	4	3	1	2	5	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:99084263C>T	ENST00000331410.5	+	5	700	c.430C>T	c.(430-432)Cct>Tct	p.P144S	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000448667.1_3'UTR	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTTACTTTCCCTACTAGTGG	0.403																																																	0													95	95	95					7																	99084263		2203	4300	6503	SO:0001583	missense	0			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.430C>T	7.37:g.99084263C>T	ENSP00000331927:p.Pro144Ser		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P144S	ENST00000331410.5	37	c.430	CCDS34693.1	7	.	.	.	.	.	.	.	.	.	.	C	7.859	0.725560	0.15439	.	.	ENSG00000198556	ENST00000331410	T	0.04654	3.58	2.56	1.67	0.24075	.	.	.	.	.	T	0.03959	0.0111	L	0.33485	1.01	0.09310	N	1	B	0.26081	0.141	B	0.20767	0.031	T	0.39981	-0.9587	9	0.45353	T	0.12	.	5.4287	0.16440	0.0:0.8409:0.0:0.1591	.	144	Q5FWF6	ZN789_HUMAN	S	144	ENSP00000331927:P144S	ENSP00000331927:P144S	P	+	1	0	ZNF789	98922199	0.000000	0.05858	0.010000	0.14722	0.012000	0.07955	0.130000	0.15850	0.656000	0.30886	0.650000	0.86243	CCT	ZNF789	-	NULL	ENSG00000198556		0.403	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF789	HGNC	protein_coding	OTTHUMT00000336266.1	-	0	43	0	C	NM_213603		99084263	1	tier1	-	no_errors	ENST00000331410	ensembl	human	known	74_37	missense	51.92	25	27	SNP	0.001	T	T	99084263	C	T	99084263	3	4	5	1	0	0	0	0	1	0	0	0	18208	623	22	3	486	3	ZNF789	7	99084263	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	7452631	99084263	60054400	75	1339											
GIGYF1	64599	genome.wustl.edu	37	chr7	100283042	100283042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagagtgggcccagggtggGcagtggggatggggagctgg	6	5	23	7	0	0	1	0	0	0	1	0	3	0	3	2	8	1	2	2	8	0	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100283042G>T	ENST00000275732.5	-	10	2326	c.1117C>A	c.(1117-1119)Ccc>Acc	p.P373T	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	373					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCCAGGGTGGGCAGTGGGGAT	0.627																																																	0													44	44	44					7																	100283042		2203	4300	6503	SO:0001583	missense	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1117C>A	7.37:g.100283042G>T	ENSP00000275732:p.Pro373Thr		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P373T	ENST00000275732.5	37	c.1117	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	9.864	1.197186	0.22037	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.83591	-1.74	5.38	1.53	0.23141	.	0.340897	0.30455	N	0.009599	T	0.68016	0.2955	L	0.29908	0.895	0.37561	D	0.919064	B	0.02656	0.0	B	0.01281	0.0	T	0.55939	-0.8061	10	0.36615	T	0.2	-3.2504	4.0356	0.09729	0.0856:0.334:0.4304:0.1499	.	373	O75420	PERQ1_HUMAN	T	92;373	ENSP00000275732:P373T	ENSP00000275732:P373T	P	-	1	0	GIGYF1	100120978	1.000000	0.71417	0.653000	0.29593	0.039000	0.13416	0.962000	0.29280	0.096000	0.17463	0.655000	0.94253	CCC	GIGYF1	-	NULL	ENSG00000146830		0.627	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	-	0	29	0	G	NM_022574		100283042	-1	tier1	-	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.563	T	T	100283042	G	T	100283042	3	4	5	1	0	0	0	0	1	0	0	0	6403	1203	42	3	2050	3	GIGYF1	7	100283042	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1198779	100283042	58855621	76	1340											
ZAN	7455	genome.wustl.edu	37	chr7	100350067	100350067	+	RNA	SNP	C	C	T																															caccatccccacagaaaaacCcaccatccccacagaaaaac																								rs221826		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100350067C>T	ENST00000348028.3	+	0	2504				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.532																																																	0													180	202	195					7																	100350067		1844	4079	5923			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350067C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P780L	ENST00000348028.3	37	c.2339		7	.	.	.	.	.	.	.	.	.	.	c	10.66	1.411744	0.25465	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.68479	-0.33;0.07;-0.33	4.58	1.78	0.24846	.	.	.	.	.	T	0.57330	0.2046	L	0.57536	1.79	0.18873	N	0.999989	B;B	0.14805	0.011;0.006	B;B	0.12156	0.007;0.003	T	0.49707	-0.8911	9	0.42905	T	0.14	.	4.4473	0.11604	0.1549:0.6054:0.0:0.2397	rs221826	780;780	F5H0T8;Q9Y493	.;ZAN_HUMAN	L	780	ENSP00000445943:P780L;ENSP00000445091:P780L;ENSP00000444427:P780L	ENSP00000423579:P780L	P	+	2	0	ZAN	100188003	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.288000	0.18939	0.239000	0.21243	0.650000	0.86243	CCC	ZAN	-	NULL	ENSG00000146839		0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	232	0	C	NM_003386		100350067	1	tier1	rs221826	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	12.83	163	24	SNP	0.000	T	T	100350067	C	T	100350067	1	4	5	0	1	0	0	0	0	0	0	0	17562	623	22	3		3	ZAN	7	100350067	RNA	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	67025	100350067	58788596	77	1341	4	2									
ZAN	7455	genome.wustl.edu	37	chr7	100350074	100350074	+	RNA	SNP	C	C	T																															cccacagaaaaacccaccatCcccacagaaaaacccaccat																								rs370655016		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100350074C>T	ENST00000348028.3	+	0	2511				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCACAGAAA	0.527																																																	0								C	,	0,3692		0,0,1846	186	209	202		2346,2346	0.5	0	7		202	2,8162		0,2,4080	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,2,5926	TT,TC,CC		0.0245,0.0,0.0169	,	782/2813,782/2722	100350074	2,11854	1846	4082	5928			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350074C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.I782	ENST00000348028.3	37	c.2346		7																																																																																			ZAN	-	NULL	ENSG00000146839		0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	234	0	C	NM_003386		100350074	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	silent	20.11	143	36	SNP	0.000	T	T	100350074	C	T	100350074	1	4	5	0	1	0	0	0	0	0	0	0	17562	845	30	3		3	ZAN	7	100350074	RNA	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	7	100350074	58788589	78	1342	4	2									
ZAN	7455	genome.wustl.edu	37	chr7	100350096	100350096	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacagaaaaacccaccattCccacagaaaaacccaccatc	18	3	2	18	0	0	2	0	0	0	2	2	2	1	2	6	0	2	0	6	0	4	1	rs199814972		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:100350096C>T	ENST00000348028.3	+	0	2533				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATTCCCACAGAAAA	0.527																																																	0													202	230	221					7																	100350096		1872	4092	5964			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350096C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P790S	ENST00000348028.3	37	c.2368		7	.	.	.	.	.	.	.	.	.	.	c	8.792	0.930917	0.18131	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.74315	-0.83;-0.07;-0.83	4.34	3.44	0.39384	.	.	.	.	.	T	0.57359	0.2048	N	0.25094	0.71	0.09310	N	0.999996	P;P	0.43938	0.822;0.728	B;B	0.38225	0.268;0.138	T	0.49753	-0.8906	9	0.52906	T	0.07	.	6.7111	0.23278	0.0:0.7163:0.1833:0.1005	.	790;790	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	790	ENSP00000445943:P790S;ENSP00000445091:P790S;ENSP00000444427:P790S	ENSP00000423579:P790S	P	+	1	0	ZAN	100188032	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-3.096000	0.00606	1.090000	0.41315	0.650000	0.86243	CCC	ZAN	-	NULL	ENSG00000146839		0.527	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	230	0	C	NM_003386		100350096	1	tier1	rs199814972	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	9.04	171	17	SNP	0.003	T	T	100350096	C	T	100350096	1	4	5	0	1	0	0	0	0	0	0	0	17562	855	30	3		3	ZAN	7	100350096	RNA	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	22	100350096	58788567	79	1343											
GCC1	79571	genome.wustl.edu	37	chr7	127224765	127224765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcttcagctggtgcaGtcttttgtccacctccccac	5	13	8	15	0	3	1	1	1	2	0	5	1	5	1	4	1	2	2	4	1	0	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:127224765G>T	ENST00000321407.2	-	1	896	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	158					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGCTGGTGCAGTCTTTTGTCC	0.542																																																	0													116	115	115					7																	127224765		2203	4300	6503	SO:0001583	missense	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.472C>A	7.37:g.127224765G>T	ENSP00000318821:p.Leu158Met		Q9H6N7	Missense_Mutation	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.L158M	ENST00000321407.2	37	c.472	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	10.84	1.465484	0.26335	.	.	ENSG00000179562	ENST00000321407	T	0.13196	2.61	5.96	0.173	0.15036	.	0.306844	0.31188	N	0.008096	T	0.07458	0.0188	L	0.29908	0.895	0.22142	N	0.999339	B	0.12013	0.005	B	0.13407	0.009	T	0.22977	-1.0201	10	0.44086	T	0.13	-3.0955	1.9831	0.03430	0.349:0.1307:0.3944:0.1259	.	158	Q96CN9	GCC1_HUMAN	M	158	ENSP00000318821:L158M	ENSP00000318821:L158M	L	-	1	2	GCC1	127012001	0.002000	0.14202	0.843000	0.33291	0.998000	0.95712	0.001000	0.13038	0.088000	0.17205	0.650000	0.86243	CTG	GCC1	-	NULL	ENSG00000179562		0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	-	0	52	0	G	NM_024523		127224765	-1	tier1	-	no_errors	ENST00000321407	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.006	T	T	127224765	G	T	127224765	3	4	5	1	0	0	0	0	1	0	0	0	6310	1020	36	3	1863	3	GCC1	7	127224765	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	26874669	127224765	31913898	80	1344											
FLNC	2318	genome.wustl.edu	37	chr7	128496898	128496898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtcccttcaagatccGcgttggggagcagagccagg	9	7	15	10	2	1	2	1	0	0	2	3	4	3	4	3	4	2	2	3	4	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:128496898G>C	ENST00000325888.8	+	45	7745	c.7484G>C	c.(7483-7485)cGc>cCc	p.R2495P	FLNC_ENST00000346177.6_Missense_Mutation_p.R2462P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2495	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCAAGATCCGCGTTGGGGAG	0.622																																																	0													72	78	76					7																	128496898		2168	4274	6442	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7484G>C	7.37:g.128496898G>C	ENSP00000327145:p.Arg2495Pro		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2495P	ENST00000325888.8	37	c.7484	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	g	28.4	4.918868	0.92249	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88354	-2.37;-2.37	5.51	5.51	0.81932	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.75615	2.305	0.80722	D	1	D;B	0.76494	0.999;0.3	D;B	0.81914	0.995;0.087	D	0.94602	0.7797	10	0.72032	D	0.01	.	19.4409	0.94820	0.0:0.0:1.0:0.0	.	2462;2495	Q14315-2;Q14315	.;FLNC_HUMAN	P	2495;2462	ENSP00000327145:R2495P;ENSP00000344002:R2462P	ENSP00000327145:R2495P	R	+	2	0	FLNC	128284134	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	9.806000	0.99153	2.588000	0.87417	0.552000	0.68991	CGC	FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.622	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	67	0	G			128496898	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	C	C	128496898	G	C	128496898	3	2	5	1	0	0	0	0	1	0	0	0	5957	1087	38	5	7662	5	FLNC	7	128496898	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1272133	128496898	30641765	81	1345											
UBN2	254048	genome.wustl.edu	37	chr7	138946353	138946353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgatggtagccccCtatctgagtcggggggtgaa	6	11	14	10	1	2	3	0	3	2	0	3	3	2	3	2	4	2	2	2	4	3	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:138946353C>A	ENST00000473989.3	+	6	1261	c.1261C>A	c.(1261-1263)Cta>Ata	p.L421I	UBN2_ENST00000288561.8_Missense_Mutation_p.L338I	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	421						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGGTAGCCCCCTATCTGAGTC	0.488																																																	0													87	84	85					7																	138946353		1908	4119	6027	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1261C>A	7.37:g.138946353C>A	ENSP00000418648:p.Leu421Ile		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.L421I	ENST00000473989.3	37	c.1261	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981552	0.34942	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.23552	1.9;1.9	6.08	3.17	0.36434	.	0.374783	0.27735	N	0.018070	T	0.18964	0.0455	L	0.43152	1.355	0.09310	N	1	B	0.26318	0.146	B	0.21360	0.034	T	0.14615	-1.0466	9	.	.	.	-9.0329	8.9325	0.35680	0.0:0.6195:0.2214:0.1591	.	421	Q6ZU65	UBN2_HUMAN	I	421;338	ENSP00000418648:L421I;ENSP00000288561:L338I	.	L	+	1	2	UBN2	138596893	0.000000	0.05858	0.990000	0.47175	0.936000	0.57629	0.738000	0.26158	0.924000	0.37069	-0.126000	0.14955	CTA	UBN2	-	NULL	ENSG00000157741		0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	-	0	51	0	C	NM_173569		138946353	1	tier1	-	no_errors	ENST00000473989	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.245	A	A	138946353	C	A	138946353	3	1	5	1	0	0	0	0	1	0	0	0	16942	680	24	3	1283	3	UBN2	7	138946353	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	10449455	138946353	20192310	82	1346											
TRPV6	55503	genome.wustl.edu	37	chr7	142572851	142572851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaccagcaggatgatgaTagccccaatgacagtcacca	13	7	8	13	0	2	3	1	3	1	0	2	4	2	4	4	1	3	1	4	1	3	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:142572851T>C	ENST00000359396.3	-	9	1434	c.1189A>G	c.(1189-1191)Atc>Gtc	p.I397V	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	397					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGATGATGATAGCCCCAATG	0.552																																																	0													146	132	137					7																	142572851		2203	4300	6503	SO:0001583	missense	0			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1189A>G	7.37:g.142572851T>C	ENSP00000352358:p.Ile397Val		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.I397V	ENST00000359396.3	37	c.1189	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.578447	0.00879	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85484	-1.99;-1.99	4.74	-0.957	0.10350	.	0.907495	0.09514	N	0.791894	T	0.54415	0.1857	N	0.01705	-0.755	0.26466	N	0.975352	B	0.02656	0.0	B	0.06405	0.002	T	0.51942	-0.8641	10	0.02654	T	1	-6.6657	1.9166	0.03298	0.1222:0.3914:0.2625:0.2239	.	397	Q9H1D0	TRPV6_HUMAN	V	397;229;20	ENSP00000352358:I397V;ENSP00000411100:I20V	ENSP00000310825:I229V	I	-	1	0	TRPV6	142282973	0.000000	0.05858	0.813000	0.32504	0.543000	0.35085	-2.274000	0.01163	-0.223000	0.09943	-1.262000	0.01453	ATC	TRPV6	-	tigrfam_TRP_channel	ENSG00000165125		0.552	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	-	0	63	0	T	NM_014274		142572851	-1	tier1	-	no_errors	ENST00000359396	ensembl	human	known	74_37	missense	85.19	8	46	SNP	0.273	C	C	142572851	T	C	142572851	3	2	5	1	0	0	0	0	1	0	0	0	16648	1406	49	4	1016	4	TRPV6	7	142572851	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	3626498	142572851	16565812	83	1347											
KCNH2	3757	genome.wustl.edu	37	chr7	150648579	150648579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatcttctctgagttGgtgttgggagagacgttgcc	8	12	15	6	1	2	4	0	1	2	3	3	7	2	5	1	2	1	3	1	2	1	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr7:150648579G>T	ENST00000262186.5	-	7	2303	c.1902C>A	c.(1900-1902)acC>acA	p.T634T	KCNH2_ENST00000430723.3_Silent_p.T634T|KCNH2_ENST00000330883.4_Silent_p.T294T|KCNH2_ENST00000392968.2_Silent_p.T538T	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	634					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	TCTCTGAGTTGGTGTTGGGAG	0.612																																					GBM(137;110 1844 13671 20123 45161)												0													98	93	94					7																	150648579		2203	4300	6503	SO:0001819	synonymous_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1902C>A	7.37:g.150648579G>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.T634	ENST00000262186.5	37	c.1902	CCDS5910.1	7																																																																																			KCNH2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom	ENSG00000055118		0.612	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0	92	0	G	NM_000238		150648579	-1	tier1	-	no_errors	ENST00000262186	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T	T	150648579	G	T	150648579	2	4	5	1	0	0	0	0	0	0	0	1	8059	1335	47	3		3	KCNH2	7	150648579	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	8075728	150648579	8490084	84	1348											
SLC7A2	6542	genome.wustl.edu	37	chr8	17419458	17419458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccccctgcagctttcCtcgtgttgggcctgagtgtc	4	12	10	15	1	0	1	0	1	0	0	4	1	2	1	4	1	2	3	4	1	0	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:17419458C>T	ENST00000494857.1	+	11	1728	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F	SLC7A2_ENST00000004531.10_Missense_Mutation_p.L544F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L543F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L504F|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L543F	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	504					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCAGCTTTCCTCGTGTTGGG	0.517																																																	0													161	135	144					8																	17419458		2203	4300	6503	SO:0001583	missense	0			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1510C>T	8.37:g.17419458C>T	ENSP00000419140:p.Leu504Phe		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.L544F	ENST00000494857.1	37	c.1630	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393212	0.25118	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89939	-2.43;-2.43;-2.59;-2.44;-2.59	4.69	3.8	0.43715	.	0.339739	0.31438	N	0.007654	D	0.85383	0.5684	L	0.53249	1.67	0.09310	N	0.999993	B;B;B	0.34061	0.436;0.018;0.096	B;B;B	0.39562	0.303;0.063;0.062	T	0.78986	-0.1987	10	0.66056	D	0.02	.	4.8711	0.13633	0.1565:0.6065:0.1516:0.0854	.	544;543;504	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	F	504;504;543;544;543	ENSP00000419140:L504F;ENSP00000430464:L504F;ENSP00000419873:L543F;ENSP00000004531:L544F;ENSP00000381164:L543F	ENSP00000004531:L544F	L	+	1	0	SLC7A2	17463750	0.796000	0.28864	0.042000	0.18584	0.007000	0.05969	1.304000	0.33482	1.559000	0.49555	-0.176000	0.13171	CTC	SLC7A2	-	tigrfam_Cat_AA_permease	ENSG00000003989		0.517	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3	-	0	35	0	C	NM_003046		17419458	1	tier1	-	no_errors	ENST00000004531	ensembl	human	known	74_37	missense	37.50	39	24	SNP	0.075	T	T	17419458	C	T	17419458	3	4	5	1	0	0	0	0	1	0	0	0	14742	681	24	3	1809	3	SLC7A2	8	17419458	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		17419458	128944564	85	1349											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37732217	37732217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcacaaggtcttcagCaggccccgatgcgtcctccc	6	10	8	17	2	4	0	2	0	3	0	7	1	6	0	4	2	2	1	4	2	1	2	rs546332369		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:37732217C>A	ENST00000330843.4	-	3	1450	c.1438G>T	c.(1438-1440)Gct>Tct	p.A480S	RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.A332S|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.A480S|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.A332S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	480					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGTCTTCAGCAGGCCCCGAT	0.562																																																	0													134	136	135					8																	37732217		2203	4300	6503	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1438G>T	8.37:g.37732217C>A	ENSP00000331342:p.Ala480Ser		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A480S	ENST00000330843.4	37	c.1438	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247379	0.22880	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.30981	2.27;2.74;1.53;1.51	3.55	3.55	0.40652	.	1.488090	0.04681	N	0.412411	T	0.22205	0.0535	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.27732	0.067;0.187;0.065;0.118	B;B;B;B	0.22601	0.012;0.039;0.04;0.025	T	0.26538	-1.0100	10	0.09084	T	0.74	.	6.0082	0.19559	0.0:0.6064:0.2785:0.1151	.	332;332;480;480	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	S	480;480;332;332	ENSP00000287263:A480S;ENSP00000331342:A480S;ENSP00000430009:A332S;ENSP00000430680:A332S	ENSP00000287263:A480S	A	-	1	0	RAB11FIP1	37851375	0.002000	0.14202	0.230000	0.23976	0.008000	0.06430	0.198000	0.17217	1.533000	0.49186	0.467000	0.42956	GCT	RAB11FIP1	-	NULL	ENSG00000156675		0.562	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0	54	0	C	NM_025151		37732217	-1	tier1	-	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.016	A	A	37732217	C	A	37732217	3	1	5	1	0	0	0	0	1	0	0	0	12938	710	25	3	2429	3	RAB11FIP1	8	37732217	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	20312759	37732217	108631805	86	1350											
TERF1	7013	genome.wustl.edu	37	chr8	73921284	73921286	+	In_Frame_Del	DEL	GAG	GAG	-																															aggtgcaggtgggggcccccGaggaggaggaggaggaggag																										TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:73921284_73921286delGAG	ENST00000276603.5	+	1	186_188	c.163_165delGAG	c.(163-165)gagdel	p.E62del	TERF1_ENST00000276602.6_In_Frame_Del_p.E62del	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	62	Asp/Glu-rich (acidic).|Poly-Glu.|TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGGGGCCCCCgaggaggaggagg	0.65																																																	0																																										SO:0001651	inframe_deletion	0			U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.163_165delGAG	8.37:g.73921293_73921295delGAG	ENSP00000276603:p.Glu62del		A7XP29|Q15553|Q8NHT6|Q93029	In_Frame_Del	DEL	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.E58in_frame_del	ENST00000276603.5	37	c.163_165	CCDS6211.1	8																																																																																			TERF1	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000147601		0.65	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERF1	HGNC	protein_coding	OTTHUMT00000379093.1		0	43	0	GAG	NM_017489		73921286	1	tier1		no_errors	ENST00000276603	ensembl	human	known	74_37	in_frame_del	12.90	27	4	DEL	0.121:0.130:0.144	-	-	73921286	GAG	-	73921284	7	5	5	1	0	1	0	1	0	0	0	0	15808	1059	37	0	165	0	TERF1	8	73921284	In_Frame_Del	DEL	GAG	TCGA-2H-A9GJ-01A-11D-A37C-09	36189067	73921284	72442738	87	1351											
WWP1	11059	genome.wustl.edu	37	chr8	87424060	87424060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggtgtatggatcctgtaCggcagcagtctgggaatgcc	8	10	15	8	1	1	0	0	0	1	0	2	2	2	2	2	4	3	4	2	4	3	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:87424060C>T	ENST00000517970.1	+	9	1325	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	WWP1_ENST00000265428.4_Missense_Mutation_p.R340W|WWP1_ENST00000341922.2_Missense_Mutation_p.R210W|WWP1_ENST00000349423.2_Missense_Mutation_p.R122W	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	340					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GGATCCTGTACGGCAGCAGTC	0.423																																																	0													64	62	63					8																	87424060		2203	4300	6503	SO:0001583	missense	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1018C>T	8.37:g.87424060C>T	ENSP00000427793:p.Arg340Trp		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R340W	ENST00000517970.1	37	c.1018	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758122	0.69648	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.48201	0.82;0.82;0.83;0.83	6.07	2.95	0.34219	WW/Rsp5/WWP (1);	1.464360	0.04355	N	0.356415	T	0.38268	0.1034	N	0.08118	0	0.41976	D	0.990773	D;D	0.58620	0.983;0.983	P;B	0.45712	0.491;0.2	T	0.24119	-1.0169	10	0.62326	D	0.03	.	13.3489	0.60591	0.66:0.34:0.0:0.0	.	122;340	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	W	340;340;210;122	ENSP00000427793:R340W;ENSP00000265428:R340W;ENSP00000340564:R210W;ENSP00000342665:R122W	ENSP00000265428:R340W	R	+	1	2	WWP1	87493176	0.818000	0.29161	0.248000	0.24265	0.967000	0.64934	1.382000	0.34374	0.823000	0.34589	0.650000	0.86243	CGG	WWP1	-	superfamily_WW_dom	ENSG00000123124		0.423	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0	17	0	C	NM_007013		87424060	1			no_errors	ENST00000265428	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.725	T	T	87424060	C	T	87424060	3	4	5	1	0	0	0	0	1	0	0	0	17464	527	19	1	1044	1	WWP1	8	87424060	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	13502776	87424060	58939962	88	1352											
RIMS2	9699	genome.wustl.edu	37	chr8	104898074	104898074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcaatggaaagaactcGagaggctcagggaccaagtt	14	9	11	7	1	2	2	2	0	0	2	3	5	2	4	1	3	1	2	1	3	5	3	rs199608093		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:104898074G>T	ENST00000436393.2	+	2	822	c.581G>T	c.(580-582)cGa>cTa	p.R194L	RIMS2_ENST00000406091.3_Missense_Mutation_p.R416L|RIMS2_ENST00000507740.1_Missense_Mutation_p.R224L|RIMS2_ENST00000262231.10_Missense_Mutation_p.R224L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	447					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.R224L(2)|p.R452L(1)|p.R416L(1)|p.R194L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAAAGAACTCGAGAGGCTCAG	0.463										HNSCC(12;0.0054)																																							5	Substitution - Missense(5)	lung(5)											73	70	71					8																	104898074		1919	4133	6052	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.581G>T	8.37:g.104898074G>T	ENSP00000390665:p.Arg194Leu		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R416L	ENST00000436393.2	37	c.1247		8	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536118	0.64972	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.65	5.65	0.86999	.	.	.	.	.	T	0.47600	0.1454	L	0.36672	1.1	0.80722	D	1	P;B;P;D;P	0.63046	0.673;0.427;0.882;0.992;0.932	B;B;P;P;P	0.57720	0.153;0.317;0.62;0.826;0.553	T	0.34079	-0.9843	9	0.48119	T	0.1	.	18.7115	0.91658	0.0:0.0:1.0:0.0	.	447;194;224;224;416	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	416;447;416;447;224;224;224;224;194	ENSP00000427018:R416L;ENSP00000384892:R416L;ENSP00000425205:R224L;ENSP00000262231:R224L;ENSP00000423559:R224L;ENSP00000386228:R224L;ENSP00000390665:R194L	ENSP00000262231:R224L	R	+	2	0	RIMS2	104967250	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.918000	0.56432	2.653000	0.90120	0.563000	0.77884	CGA	RIMS2	-	NULL	ENSG00000176406		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	24	0	G	NM_001100117		104898074	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	104898074	G	T	104898074	3	4	5	1	0	0	0	0	1	0	0	0	13413	1058	37	2	1387	2	RIMS2	8	104898074	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	17474014	104898074	41465948	89	1353											
TM7SF4	81501	genome.wustl.edu	37	chr8	105361517	105361517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaagtatgaaaacatctAcatcaccagacaatttgttc	15	12	6	8	0	2	2	1	1	1	1	3	3	2	3	1	1	2	2	1	1	6	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:105361517A>T	ENST00000297581.2	+	2	786	c.737A>T	c.(736-738)tAc>tTc	p.Y246F	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.Y246F|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	246					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GAAAACATCTACATCACCAGA	0.483																																																	0													102	97	99					8																	105361517		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.737A>T	8.37:g.105361517A>T	ENSP00000297581:p.Tyr246Phe		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.Y246F	ENST00000297581.2	37	c.737	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455031	0.43634	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.53640	0.61;0.61	5.76	4.59	0.56863	Dendritic cell-specific transmembrane protein-like (1);	0.115301	0.64402	N	0.000009	T	0.38746	0.1052	L	0.37561	1.115	0.38109	D	0.9375	B	0.25048	0.117	B	0.31812	0.136	T	0.25293	-1.0136	9	.	.	.	-11.7077	10.7676	0.46303	0.851:0.0:0.0:0.149	.	246	Q9H295	TM7S4_HUMAN	F	246	ENSP00000297581:Y246F;ENSP00000428869:Y246F	.	Y	+	2	0	TM7SF4	105430693	1.000000	0.71417	0.988000	0.46212	0.902000	0.53008	3.365000	0.52335	0.991000	0.38814	0.454000	0.30748	TAC	DCSTAMP	-	pfam_DC_STAMP-like	ENSG00000164935		0.483	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	-	0	84	0	A	NM_030788		105361517	1	tier1	-	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	47.56	43	39	SNP	1.000	T	T	105361517	A	T	105361517	3	4	5	1	0	0	0	0	1	0	0	0	16023	391	14	5	739	5	TM7SF4	8	105361517	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	463443	105361517	41002505	90	1354											
ZFPM2	23414	genome.wustl.edu	37	chr8	106573669	106573669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagtgggaacaacctgggGgccgtttcctgggaagatgg	8	8	16	9	1	0	1	0	0	0	1	2	3	2	3	4	5	2	1	4	5	3	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:106573669G>T	ENST00000407775.2	+	4	630	c.380G>T	c.(379-381)gGg>gTg	p.G127V	ZFPM2_ENST00000520492.1_5'UTR|ZFPM2_ENST00000517361.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	127					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACAACCTGGGGGCCGTTTCCT	0.433																																																	0													55	56	56					8																	106573669		1843	4083	5926	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.380G>T	8.37:g.106573669G>T	ENSP00000384179:p.Gly127Val		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G127V	ENST00000407775.2	37	c.380	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710655	0.89112	.	.	ENSG00000169946	ENST00000407775	T	0.57907	0.37	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71196	-0.4664	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	127	Q8WW38	FOG2_HUMAN	V	127	ENSP00000384179:G127V	ENSP00000384179:G127V	G	+	2	0	ZFPM2	106642845	1.000000	0.71417	0.971000	0.41717	0.998000	0.95712	8.397000	0.90193	2.813000	0.96785	0.655000	0.94253	GGG	ZFPM2	-	NULL	ENSG00000169946		0.433	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	70	0	G			106573669	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.999	T	T	106573669	G	T	106573669	3	4	5	1	0	0	0	0	1	0	0	0	17706	1232	43	3	394	3	ZFPM2	8	106573669	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1212152	106573669	39790353	91	1355											
PLEC	5339	genome.wustl.edu	37	chr8	145017974	145017974	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctgcgcccaccgacgtcCcctgcgccagtgccacacag	6	5	10	20	4	0	0	0	0	0	0	2	1	2	0	7	0	3	0	7	0	0	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:145017974C>T	ENST00000322810.4	-	2	693				PLEC_ENST00000398774.2_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354589.3_Missense_Mutation_p.G29R|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000357649.2_5'Flank|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCGACGTCCCCTGCGCCAG	0.711																																																	0													20	27	25					8																	145017974		2029	4179	6208	SO:0001627	intron_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.524-5114G>A	8.37:g.145017974C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.G29R	ENST00000322810.4	37	c.85	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740960	0.30865	.	.	ENSG00000178209	ENST00000354589	T	0.77358	-1.09	3.85	2.87	0.33458	.	.	.	.	.	T	0.66992	0.2846	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.67473	-0.5662	8	0.62326	D	0.03	.	7.6474	0.28329	0.2746:0.7254:0.0:0.0	.	29	Q15149-5	.	R	29	ENSP00000346602:G29R	ENSP00000346602:G29R	G	-	1	0	PLEC	145089962	0.000000	0.05858	1.000000	0.80357	0.666000	0.39218	-0.020000	0.12525	1.978000	0.57642	0.305000	0.20034	GGA	PLEC	-	NULL	ENSG00000178209		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0	23	0	C	NM_000445		145017974	-1			no_errors	ENST00000354589	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	145017974	C	T	145017974	1	4	5	0	1	0	0	0	0	0	0	0	12091	632	22	3		3	PLEC	8	145017974	Intron	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	38444305	145017974	1346048	92	1356											
OPLAH	26873	genome.wustl.edu	37	chr8	145113931	145113931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacggtgcagcaccacgcGttcgtccacctccagcacct	7	7	8	19	4	0	0	0	0	0	0	4	0	3	0	6	1	3	4	6	1	0	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:145113931G>A	ENST00000426825.1	-	4	496	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	139					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCACCACGCGTTCGTCCACC	0.687																																																	0													19	21	20					8																	145113931		2095	4197	6292	SO:0001583	missense	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.415C>T	8.37:g.145113931G>A	ENSP00000475943:p.Arg139Cys		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.R139C	ENST00000426825.1	37	c.415		8	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391036	0.25118	.	.	ENSG00000178814	ENST00000426825	.	.	.	4.83	3.89	0.44902	Hydantoinaseoxoprolinase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73118	0.3546	.	.	.	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.81346	-0.0974	7	0.87932	D	0	.	11.5244	0.50571	0.0:0.0:0.8202:0.1798	.	139	O14841	OPLA_HUMAN	C	139	.	ENSP00000412071:R139C	R	-	1	0	OPLAH	145185919	0.994000	0.37717	0.099000	0.21106	0.287000	0.27160	2.149000	0.42244	2.250000	0.74265	0.561000	0.74099	CGC	OPLAH	-	pfam_Hydant_A_N	ENSG00000178814		0.687	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		-	0	178	0	G	NM_017570		145113931	-1	tier1	-	no_errors	ENST00000426825	ensembl	human	known	74_37	missense	25.74	176	61	SNP	0.985	A	A	145113931	G	A	145113931	3	1	5	1	0	0	0	0	1	0	0	0	10915	1145	40	1	3549	1	OPLAH	8	145113931	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	95957	145113931	1250091	93	1357											
VPS28	51160	genome.wustl.edu	37	chr8	145650157	145650157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcgtccttgatggtgaTgggccggtcctccttgatcc	3	14	12	12	2	0	3	0	3	0	0	5	3	4	3	5	3	0	0	5	3	0	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr8:145650157T>A	ENST00000526054.1	-	6	383	c.346A>T	c.(346-348)Atc>Ttc	p.I116F	VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Missense_Mutation_p.I116F|VPS28_ENST00000529182.1_Missense_Mutation_p.I116F|VPS28_ENST00000292510.4_Missense_Mutation_p.I116F			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	116	VPS28 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00645}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TTGATGGTGATGGGCCGGTCC	0.667																																																	0													164	134	144					8																	145650157		2203	4300	6503	SO:0001583	missense	0			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.346A>T	8.37:g.145650157T>A	ENSP00000434064:p.Ile116Phe		Q86VK0	Missense_Mutation	SNP	pfam_VPS28,pirsf_VPS28	p.I116F	ENST00000526054.1	37	c.346	CCDS6425.1	8	.	.	.	.	.	.	.	.	.	.	t	22.3	4.273140	0.80580	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032	.	.	.	5.83	3.33	0.38152	Vacuolar protein sorting-associated, VPS28, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78828	-0.2050	9	0.49607	T	0.09	.	6.8143	0.23822	0.0:0.0804:0.152:0.7676	.	116;116	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	F	116;116;116;116;99;116	.	ENSP00000292510:I116F	I	-	1	0	VPS28	145620965	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.447000	0.44917	1.032000	0.39892	0.533000	0.62120	ATC	VPS28	-	pfam_VPS28,pirsf_VPS28	ENSG00000160948		0.667	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS28	HGNC	protein_coding	OTTHUMT00000382694.1		0	72	0	T			145650157	-1			no_errors	ENST00000377348	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.999	A	A	145650157	T	A	145650157	3	1	5	1	0	0	0	0	1	0	0	0	17248	1464	51	5	449	5	VPS28	8	145650157	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	536226	145650157	713865	94	1358											
GLIS3	169792	genome.wustl.edu	37	chr9	3879490	3879490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggaggggttgtgagggctcCcctgtacattatgtcctgga	7	11	15	8	0	0	1	0	1	0	0	2	3	2	3	3	5	1	3	3	5	2	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:3879490C>T	ENST00000324333.10	-	7	1962	c.1769G>A	c.(1768-1770)gGg>gAg	p.G590E	GLIS3_ENST00000381971.3_Missense_Mutation_p.G745E|GLIS3_ENST00000461870.1_5'UTR|RP11-252M18.3_ENST00000422150.1_RNA	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	590					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGAGGGCTCCCCTGTACATT	0.552																																																	0													129	117	121					9																	3879490		2203	4300	6503	SO:0001583	missense	0			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1769G>A	9.37:g.3879490C>T	ENSP00000325494:p.Gly590Glu		B1AL19|Q1PHK5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G745E	ENST00000324333.10	37	c.2234	CCDS6451.1	9	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313400	0.60414	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.46451	0.87;0.87	5.98	5.98	0.97165	.	0.000000	0.52532	D	0.000065	T	0.55449	0.1921	L	0.29908	0.895	0.40746	D	0.982876	D;D;P;D	0.89917	0.996;1.0;0.86;1.0	P;D;P;D	0.91635	0.865;0.998;0.536;0.999	T	0.53049	-0.8493	10	0.46703	T	0.11	.	19.2148	0.93772	0.0:1.0:0.0:0.0	.	185;258;745;590	Q59FQ6;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;GLIS3_HUMAN	E	590;745	ENSP00000325494:G590E;ENSP00000371398:G745E	ENSP00000325494:G590E	G	-	2	0	GLIS3	3869490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.297000	0.65704	2.838000	0.97847	0.655000	0.94253	GGG	GLIS3	-	NULL	ENSG00000107249		0.552	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000051559.1		0	65	0	C	NM_152629		3879490	-1			no_errors	ENST00000381971	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	3879490	C	T	3879490	3	4	5	1	0	0	0	0	1	0	0	0	6473	623	22	3	574	3	GLIS3	9	3879490	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		3879490	137333941	95	1359											
PIGO	84720	genome.wustl.edu	37	chr9	35092332	35092332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaggaatgagctcactgCagccacagcccctagaagca	13	4	12	12	0	1	2	1	1	0	1	1	4	1	4	3	2	5	3	3	2	3	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:35092332C>T	ENST00000378617.3	-	7	1946	c.1552G>A	c.(1552-1554)Gca>Aca	p.A518T	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.A518T|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	518					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGCTCACTGCAGCCACAGCC	0.602																																																	0													48	49	49					9																	35092332		2203	4300	6503	SO:0001583	missense	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1552G>A	9.37:g.35092332C>T	ENSP00000367880:p.Ala518Thr		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.A518T	ENST00000378617.3	37	c.1552	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446980	0.43429	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.56941	0.43;0.43	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.50083	-0.8869	10	0.34782	T	0.22	-11.6081	12.6217	0.56607	0.0:0.925:0.0:0.075	.	518	Q8TEQ8	PIGO_HUMAN	T	518	ENSP00000367880:A518T;ENSP00000339382:A518T	ENSP00000339382:A518T	A	-	1	0	PIGO	35082332	0.938000	0.31826	0.999000	0.59377	0.585000	0.36419	1.349000	0.33998	2.813000	0.96785	0.655000	0.94253	GCA	PIGO	-	NULL	ENSG00000165282		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1		0	36	0	C	NM_032634		35092332	-1			no_errors	ENST00000341666	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.996	T	T	35092332	C	T	35092332	3	4	5	1	0	0	0	0	1	0	0	0	11933	710	25	3	1737	3	PIGO	9	35092332	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	31212842	35092332	106121099	96	1360											
GCNT1	2650	genome.wustl.edu	37	chr9	79117955	79117955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgataaatctttgtggtatgGattttcccattaaaaccaac	13	15	6	7	0	1	1	0	1	1	0	2	2	2	2	2	2	2	1	2	2	6	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:79117955G>T	ENST00000376730.4	+	4	1141	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	GCNT1_ENST00000444201.2_Missense_Mutation_p.D220Y|GCNT1_ENST00000442371.1_Missense_Mutation_p.D220Y|GCNT1_ENST00000536223.1_Missense_Mutation_p.D220Y	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	220	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTGTGGTATGGATTTTCCCAT	0.428																																																	0													69	68	68					9																	79117955		2203	4300	6503	SO:0001583	missense	0			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.658G>T	9.37:g.79117955G>T	ENSP00000365920:p.Asp220Tyr		Q6DJZ4	Missense_Mutation	SNP	pfam_Glyco_trans_14	p.D220Y	ENST00000376730.4	37	c.658	CCDS6653.1	9	.	.	.	.	.	.	.	.	.	.	g	22.1	4.249122	0.80024	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68390	-0.5421	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	220	Q02742	GCNT1_HUMAN	Y	220	ENSP00000440883:D220Y;ENSP00000415454:D220Y;ENSP00000390703:D220Y;ENSP00000365920:D220Y	.	D	+	1	0	GCNT1	78307775	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAT	GCNT1	-	pfam_Glyco_trans_14	ENSG00000187210		0.428	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT1	HGNC	protein_coding	OTTHUMT00000052725.1		0	37	0	G	NM_001097634		79117955	1			no_errors	ENST00000376730	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	79117955	G	T	79117955	3	4	5	1	0	0	0	0	1	0	0	0	6325	1174	41	3	660	3	GCNT1	9	79117955	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	44025623	79117955	62095476	97	1361											
ANP32B	10541	genome.wustl.edu	37	chr9	100774735	100774735	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacttgatgaagaagatgaAgatgaggatgaggatgaagg	16	7	17	1	0	0	9	0	6	0	3	0	12	0	12	0	4	0	0	0	4	4	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:100774735A>G	ENST00000339399.4	+	6	864	c.669A>G	c.(667-669)gaA>gaG	p.E223E		NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	223	Asp/Glu-rich (highly acidic).				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)	p.E223E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				AAGAAGATGAAGATGAGGATG	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											151	149	150					9																	100774735		2203	4300	6503	SO:0001819	synonymous_variant	0			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"ANP32 acidic nuclear phosphoproteins"	16677	protein-coding gene	gene with protein product	"acidic protein rich in leucines"					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.669A>G	9.37:g.100774735A>G			B2R9C7|O00655|P78458|P78459	Silent	SNP	smart_U2A'_phosphoprotein32A_C	p.E223	ENST00000339399.4	37	c.669	CCDS6732.1	9																																																																																			ANP32B	-	NULL	ENSG00000136938		0.318	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4		0	66	0	A	NM_006401		100774735	1			no_errors	ENST00000339399	ensembl	human	known	74_37	silent	12.86	61	9	SNP	0.995	G	G	100774735	A	G	100774735	2	3	5	1	0	0	0	0	0	0	0	1	706	69	3	4		4	ANP32B	9	100774735	Silent	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	21656780	100774735	40438696	98	1362											
COL5A1	1289	genome.wustl.edu	37	chr9	137582861	137582861	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcgatcttccaaaggcccGgatgtcgcttacagagtcac	9	8	11	13	4	2	1	1	0	1	1	4	3	3	2	2	3	1	1	2	3	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr9:137582861G>T	ENST00000371817.3	+	2	627	c.213G>T	c.(211-213)ccG>ccT	p.P71P	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	71					axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAAAGGCCCGGATGTCGCTT	0.557																																																	0													79	72	74					9																	137582861		2203	4300	6503	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.213G>T	9.37:g.137582861G>T			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P71	ENST00000371817.3	37	c.213	CCDS6982.1	9																																																																																			COL5A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000130635		0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	49	0	G	NM_000093		137582861	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.403	T	T	137582861	G	T	137582861	2	4	5	1	0	0	0	0	0	0	0	1	3703	1103	39	2		2	COL5A1	9	137582861	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	36808126	137582861	3630570	99	1363											
ZMYND11	10771	genome.wustl.edu	37	chr10	286020	286020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgagcaagctgacattgCgaggatgctatataaagaca	15	8	11	7	1	0	3	0	2	0	1	0	5	0	4	0	1	4	3	0	1	5	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:286020C>T	ENST00000397962.3	+	8	1150	c.722C>T	c.(721-723)gCg>gTg	p.A241V	ZMYND11_ENST00000381604.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000381591.1_Missense_Mutation_p.A241V|ZMYND11_ENST00000509513.2_Missense_Mutation_p.A240V|ZMYND11_ENST00000381602.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000602682.1_Missense_Mutation_p.A156V|ZMYND11_ENST00000558098.2_Missense_Mutation_p.A241V|ZMYND11_ENST00000397959.3_Missense_Mutation_p.A156V|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381607.4_Missense_Mutation_p.A147V|ZMYND11_ENST00000309776.4_Missense_Mutation_p.A201V|ZMYND11_ENST00000403354.1_Missense_Mutation_p.A187V|ZMYND11_ENST00000545619.1_Missense_Mutation_p.A147V|ZMYND11_ENST00000381584.1_Missense_Mutation_p.A224V|ZMYND11_ENST00000402736.1_Missense_Mutation_p.A210V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	241					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A201V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCTGACATTGCGAGGATGCTA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											110	117	115					10																	286020		2203	4300	6503	SO:0001583	missense	0			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.722C>T	10.37:g.286020C>T	ENSP00000381053:p.Ala241Val		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.A241V	ENST00000397962.3	37	c.722	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	C	31	5.093592	0.94149	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619	T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.73962	2.25	0.43342	D	0.995399	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;P;P;D	0.79784	0.987;0.993;0.984;0.954;0.989;0.936;0.906;0.906;0.954	T	0.67616	-0.5625	9	0.59425	D	0.04	-19.1681	17.7538	0.88442	0.0:1.0:0.0:0.0	.	241;156;186;241;187;170;187;187;210	Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.;.;.	V	241;201;201;241;156;241;187;147;210;201;224;147	ENSP00000381053:A241V;ENSP00000309992:A201V;ENSP00000371015:A201V;ENSP00000381050:A156V;ENSP00000371003:A241V;ENSP00000385484:A187V;ENSP00000371020:A147V;ENSP00000386010:A210V;ENSP00000371017:A201V;ENSP00000370996:A224V;ENSP00000438461:A147V	ENSP00000309992:A201V	A	+	2	0	ZMYND11	276020	1.000000	0.71417	0.804000	0.32291	0.863000	0.49368	5.556000	0.67307	2.618000	0.88619	0.563000	0.77884	GCG	ZMYND11	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain	ENSG00000015171		0.328	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4		0	37	0	C	NM_006624		286020	1			no_errors	ENST00000381591	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.999	T	T	286020	C	T	286020	3	4	5	1	0	0	0	0	1	0	0	0	17754	768	27	1	748	1	ZMYND11	10	286020	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		286020	135248727	100	1364											
C10orf68	79741	genome.wustl.edu	37	chr10	33018340	33018340	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttttattatcaagaagcGaatctcaaacgaagaaactt	18	11	6	6	2	2	2	2	0	1	2	3	4	2	2	0	0	3	1	0	0	9	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:33018340G>T	ENST00000375030.2	+	13	1423	c.805G>T	c.(805-807)Gaa>Taa	p.E269*	C10orf68_ENST00000375025.4_Nonsense_Mutation_p.E261*|C10orf68_ENST00000375028.3_Nonsense_Mutation_p.E237*			Q9H943	CJ068_HUMAN		261										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATCAAGAAGCGAATCTCAAAC	0.254																																																	0																																										SO:0001587	stop_gained	0																														ENST00000375030.2:c.805G>T	10.37:g.33018340G>T	ENSP00000364170:p.Glu269*		B0QZ71|Q08AN7|Q8N7T7	Nonsense_Mutation	SNP	NULL	p.E261*	ENST00000375030.2	37	c.781		10	.	.	.	.	.	.	.	.	.	.	.	12.25	1.881748	0.33255	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	.	.	.	2.0	-3.99	0.04069	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	1.292	0.02062	0.3263:0.2035:0.3375:0.1326	.	.	.	.	X	261;269;237;261;209	.	ENSP00000303710:E261X	E	+	1	0	C10orf68	33058346	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.439000	0.06897	-1.544000	0.01721	-2.002000	0.00443	GAA	C10orf68	-	NULL	ENSG00000150076		0.254	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	-	0	89	0	G			33018340	1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	nonsense	22.47	69	20	SNP	0.000	T	T	33018340	G	T	33018340	4	4	5	1	0	0	0	0	0	1	0	0	1618	1059	37	2	811	2	C10orf68	10	33018340	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	32732320	33018340	102516407	101	1365											
CTNNA3	29119	genome.wustl.edu	37	chr10	68138918	68138918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactgacttaccagtacttGtaaggaagttaacatttctc	13	13	6	9	0	1	1	0	1	1	0	2	2	1	2	1	1	4	3	1	1	6	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:68138918G>A	ENST00000433211.2	-	12	1898	c.1724C>T	c.(1723-1725)aCa>aTa	p.T575I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.T575I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACCAGTACTTGTAAGGAAGTT	0.438																																																	0													124	116	119					10																	68138918		2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1724C>T	10.37:g.68138918G>A	ENSP00000389714:p.Thr575Ile			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T575I	ENST00000433211.2	37	c.1724	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144165	0.77888	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.37058	1.22;1.22	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000032	T	0.34629	0.0904	L	0.29908	0.895	0.80722	D	1	P	0.43885	0.82	P	0.47528	0.549	T	0.08249	-1.0731	10	0.62326	D	0.03	-13.3355	11.0275	0.47753	0.0839:0.0:0.9161:0.0	.	575	Q9UI47	CTNA3_HUMAN	I	575	ENSP00000389714:T575I;ENSP00000362849:T575I	ENSP00000362849:T575I	T	-	2	0	CTNNA3	67808924	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	6.494000	0.73661	2.775000	0.95449	0.650000	0.86243	ACA	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.438	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	-	0	50	0	G	NM_013266		68138918	-1	tier1	-	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	20.63	50	13	SNP	1.000	A	A	68138918	G	A	68138918	3	1	5	1	0	0	0	0	1	0	0	0	4023	1377	48	3	991	3	CTNNA3	10	68138918	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	35120578	68138918	67395829	102	1366											
RAB11FIP2	22841	genome.wustl.edu	37	chr10	119768515	119768515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaattggctttattaactGttagagaatttgccagcttt	11	17	7	6	0	0	1	0	0	0	1	0	2	0	1	1	1	4	3	1	1	6	8			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:119768515G>T	ENST00000355624.3	-	5	1972	c.1533C>A	c.(1531-1533)aaC>aaA	p.N511K	RAB11FIP2_ENST00000476207.1_Intron|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.N531K	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	511	Necessary for the interaction with AP2A1, RAB11A, subcellular location, endocytosis activity and homooligomerization.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTATTAACTGTTAGAGAATT	0.393																																																	0													110	108	109					10																	119768515		2203	4299	6502	SO:0001583	missense	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1533C>A	10.37:g.119768515G>T	ENSP00000347839:p.Asn511Lys		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.N531K	ENST00000355624.3	37	c.1593	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	G	3.113	-0.182228	0.06340	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.61510	0.1;0.18	5.16	-10.3	0.00346	.	0.537260	0.19596	N	0.110513	T	0.17450	0.0419	N	0.02011	-0.69	0.19575	N	0.999968	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28202	-1.0051	10	0.13108	T	0.6	-1.9561	7.1878	0.25809	0.0975:0.2067:0.5871:0.1087	.	531;511	Q3I768;Q7L804	.;RFIP2_HUMAN	K	511;531	ENSP00000347839:N511K;ENSP00000358200:N531K	ENSP00000347839:N511K	N	-	3	2	RAB11FIP2	119758505	0.325000	0.24660	0.001000	0.08648	0.686000	0.39977	-0.372000	0.07504	-2.018000	0.00943	-0.469000	0.05056	AAC	RAB11FIP2	-	NULL	ENSG00000107560		0.393	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	-	0	44	0	G	NM_014904		119768515	-1	tier1	-	no_errors	ENST00000369199	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.283	T	T	119768515	G	T	119768515	3	4	5	1	0	0	0	0	1	0	0	0	12939	1368	48	3	9	3	RAB11FIP2	10	119768515	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	51629597	119768515	15766232	103	1367											
ZRANB1	54764	genome.wustl.edu	37	chr10	126672121	126672121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacttctctgctttggttgCcatggaaaatgatggctatg	8	14	10	9	0	1	1	0	1	1	0	2	2	1	2	2	3	2	3	2	3	3	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:126672121C>T	ENST00000359653.4	+	8	2143	c.1772C>T	c.(1771-1773)gCc>gTc	p.A591V		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	591	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A591V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCTTTGGTTGCCATGGAAAAT	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											162	142	149					10																	126672121		2203	4300	6503	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1772C>T	10.37:g.126672121C>T	ENSP00000352676:p.Ala591Val		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.A591V	ENST00000359653.4	37	c.1772	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644021	0.87859	.	.	ENSG00000019995	ENST00000359653	T	0.17854	2.25	5.5	5.5	0.81552	Ovarian tumour, otubain (1);	0.049616	0.85682	D	0.000000	T	0.13841	0.0335	L	0.31926	0.97	0.80722	D	1	P	0.45768	0.866	B	0.32022	0.139	T	0.03103	-1.1072	10	0.56958	D	0.05	-18.2126	19.5944	0.95530	0.0:1.0:0.0:0.0	.	591	Q9UGI0	ZRAN1_HUMAN	V	591	ENSP00000352676:A591V	ENSP00000352676:A591V	A	+	2	0	ZRANB1	126662111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.320000	0.79064	2.868000	0.98415	0.555000	0.69702	GCC	ZRANB1	-	pfscan_OTU	ENSG00000019995		0.463	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	-	0	55	0	C	NM_017580		126672121	1	tier1	-	no_errors	ENST00000359653	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	126672121	C	T	126672121	3	4	5	1	0	0	0	0	1	0	0	0	18270	739	26	3	1802	3	ZRANB1	10	126672121	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	6903606	126672121	8862626	104	1368											
CLRN3	119467	genome.wustl.edu	37	chr10	129676619	129676619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaagcatttggaacaactCttcggagagttggttggact	11	12	12	6	1	1	1	0	0	1	1	2	4	1	3	0	4	3	4	0	4	4	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:129676619C>G	ENST00000368671.3	-	3	637	c.475G>C	c.(475-477)Gag>Cag	p.E159Q		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	159						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TGGAACAACTCTTCGGAGAGT	0.463																																																	0													178	142	154					10																	129676619		2203	4300	6503	SO:0001583	missense	0			BC029478	CCDS7656.1	10q26.2	2006-11-24	2006-11-23	2006-11-23	ENSG00000180745	ENSG00000180745			20795	protein-coding gene	gene with protein product			"transmembrane protein 12"	TMEM12		12145752, 12080385	Standard	NM_152311		Approved	MGC32871, USH3AL1	uc001lka.1	Q8NCR9	OTTHUMG00000019253	ENST00000368671.3:c.475G>C	10.37:g.129676619C>G	ENSP00000357660:p.Glu159Gln		Q6MZX8	Missense_Mutation	SNP	NULL	p.E159Q	ENST00000368671.3	37	c.475	CCDS7656.1	10	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217345	0.22373	.	.	ENSG00000180745	ENST00000368671	T	0.69040	-0.37	4.48	2.6	0.31112	.	0.480519	0.19242	N	0.119123	T	0.60534	0.2276	L	0.47716	1.5	0.09310	N	1	P;P	0.48016	0.846;0.904	P;B	0.47299	0.543;0.408	T	0.49234	-0.8961	10	0.28530	T	0.3	.	8.0247	0.30430	0.0:0.8064:0.0:0.1936	.	159;91	Q8NCR9;Q8NCR9-2	CLRN3_HUMAN;.	Q	159	ENSP00000357660:E159Q	ENSP00000357660:E159Q	E	-	1	0	CLRN3	129566609	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.159000	0.10056	0.500000	0.27991	0.650000	0.86243	GAG	CLRN3	-	NULL	ENSG00000180745		0.463	CLRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN3	HGNC	protein_coding	OTTHUMT00000050987.1	-	0	54	0	C	NM_152311		129676619	-1	tier1	-	no_errors	ENST00000368671	ensembl	human	known	74_37	missense	46.00	27	23	SNP	0.002	G	G	129676619	C	G	129676619	3	3	5	1	0	0	0	0	1	0	0	0	3566	922	32	5	209	5	CLRN3	10	129676619	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	3004498	129676619	5858128	105	1369											
BNIP3	664	genome.wustl.edu	37	chr10	133786618	133786618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggtgtctgcgagcgagGtgggcttggcgatgtgaata	6	12	18	5	3	1	1	0	1	1	0	1	4	1	1	0	4	2	1	0	4	2	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr10:133786618G>A	ENST00000368636.4	-	3	326	c.202C>T	c.(202-204)Cct>Tct	p.P68S	BNIP3_ENST00000540159.1_Missense_Mutation_p.P68S	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	68					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGCGAGCGAGGTGGGCTTGGC	0.463																																																	0													206	192	197					10																	133786618		2203	4300	6503	SO:0001583	missense	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.202C>T	10.37:g.133786618G>A	ENSP00000357625:p.Pro68Ser		O14620|Q96GP0	Missense_Mutation	SNP	pfam_BNIP3	p.P68S	ENST00000368636.4	37	c.202	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032666	0.75504	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.19	4.19	0.49359	.	0.053899	0.85682	D	0.000000	T	0.55657	0.1934	L	0.33753	1.03	0.58432	D	0.999999	P	0.49559	0.925	P	0.48270	0.572	T	0.61720	-0.7005	9	0.54805	T	0.06	-9.6806	17.4294	0.87535	0.0:0.0:1.0:0.0	.	68	Q12983	BNIP3_HUMAN	S	68	.	ENSP00000357625:P68S	P	-	1	0	BNIP3	133636608	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.643000	0.74334	2.273000	0.75805	0.655000	0.94253	CCT	BNIP3	-	pfam_BNIP3	ENSG00000176171		0.463	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	-	0	93	0	G			133786618	-1	tier1	-	no_errors	ENST00000368636	ensembl	human	known	74_37	missense	28.28	71	28	SNP	1.000	A	A	133786618	G	A	133786618	3	1	5	1	0	0	0	0	1	0	0	0	1480	1261	44	3	398	3	BNIP3	10	133786618	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	4109999	133786618	1748129	106	1370											
OR52N1	79473	genome.wustl.edu	37	chr11	5809305	5809305	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgaggactatggcacAgaagtgggcagtgcaggtgc	11	7	17	6	0	0	2	0	1	0	1	0	3	0	3	0	5	2	3	0	5	3	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:5809305A>T	ENST00000317078.1	-	1	741	c.742T>A	c.(742-744)Tgt>Agt	p.C248S	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACTATGGCACAGAAGTGGGCA	0.448																																																	0													159	147	151					11																	5809305		2201	4296	6497	SO:0001583	missense	0			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.742T>A	11.37:g.5809305A>T	ENSP00000322823:p.Cys248Ser		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.C248S	ENST00000317078.1	37	c.742	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	A	12.19	1.862877	0.32884	.	.	ENSG00000181001	ENST00000317078	T	0.36520	1.25	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.315698	0.23414	N	0.048434	T	0.35008	0.0917	L	0.59912	1.85	0.26670	N	0.971747	B	0.14805	0.011	B	0.23150	0.044	T	0.29792	-1.0000	10	0.56958	D	0.05	.	9.7265	0.40335	0.8259:0.1741:0.0:0.0	.	248	Q8NH53	O52N1_HUMAN	S	248	ENSP00000322823:C248S	ENSP00000322823:C248S	C	-	1	0	OR52N1	5765881	0.000000	0.05858	1.000000	0.80357	0.830000	0.47004	0.169000	0.16641	2.092000	0.63282	0.496000	0.49642	TGT	OR52N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181001		0.448	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	-	0	22	0	A	NM_001001913		5809305	-1	tier1	-	no_errors	ENST00000317078	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	T	T	5809305	A	T	5809305	3	4	5	1	0	0	0	0	1	0	0	0	11166	188	7	5	223	5	OR52N1	11	5809305	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09		5809305	129197211	107	1371											
ZNF214	7761	genome.wustl.edu	37	chr11	7021536	7021536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtatggactctctgatGaatgcgaagatctgagctgt	9	12	11	9	1	2	4	0	3	2	1	3	6	2	5	1	1	2	2	1	1	3	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:7021536G>T	ENST00000278314.4	-	3	1693	c.1378C>A	c.(1378-1380)Cat>Aat	p.H460N	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.H460N	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		ACTCTCTGATGAATGCGAAGA	0.418																																					Ovarian(22;251 657 736 21522 46864)												0													116	119	118					11																	7021536		2201	4294	6495	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1378C>A	11.37:g.7021536G>T	ENSP00000278314:p.His460Asn		B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H460N	ENST00000278314.4	37	c.1378	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923172	0.73213	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	D;D	0.86865	-2.18;-2.18	4.05	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000506	D	0.95329	0.8484	H	0.96048	3.76	0.38368	D	0.944794	D	0.89917	1.0	D	0.97110	1.0	D	0.97261	0.9904	10	0.87932	D	0	.	14.5016	0.67724	0.0:0.0:1.0:0.0	.	460	Q9UL59	ZN214_HUMAN	N	460	ENSP00000278314:H460N;ENSP00000445373:H460N	ENSP00000278314:H460N	H	-	1	0	ZNF214	6978112	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.224000	0.95209	2.536000	0.85505	0.561000	0.74099	CAT	ZNF214	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000149050		0.418	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	-	0	67	0	G			7021536	-1	tier1	-	no_errors	ENST00000278314	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	7021536	G	T	7021536	3	4	5	1	0	0	0	0	1	0	0	0	17818	1290	45	3	446	3	ZNF214	11	7021536	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1212231	7021536	127984980	108	1372											
CYP2R1	120227	genome.wustl.edu	37	chr11	14901707	14901707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaggataaagggccatGaaaagaatcgcccaccgtag	16	7	10	8	2	0	2	0	1	0	1	1	3	0	3	3	2	0	1	3	2	8	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:14901707G>T	ENST00000334636.5	-	3	1021	c.975C>A	c.(973-975)ttC>ttA	p.F325L	CYP2R1_ENST00000532378.1_Missense_Mutation_p.F92L|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	325					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AAAGGGCCATGAAAAGAATCG	0.413																																					NSCLC(173;1584 2058 26117 29365 41534)												0													61	58	59					11																	14901707		2200	4293	6493	SO:0001583	missense	0			AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"Cytochrome P450s"	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.975C>A	11.37:g.14901707G>T	ENSP00000334592:p.Phe325Leu		Q2M3H3|Q5RT65	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F325L	ENST00000334636.5	37	c.975	CCDS7818.1	11	.	.	.	.	.	.	.	.	.	.	G	3.700	-0.061742	0.07317	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	T;T	0.76968	-1.06;-1.06	6.17	1.74	0.24563	.	0.298427	0.43260	N	0.000587	T	0.50514	0.1620	N	0.08118	0	0.48452	D	0.999655	B;B;B	0.15930	0.0;0.015;0.015	B;B;B	0.25140	0.002;0.039;0.058	T	0.42498	-0.9448	10	0.02654	T	1	.	6.6828	0.23129	0.3222:0.1305:0.5472:0.0	.	210;325;92	E9PS56;Q6VVX0;E9PJT9	.;CP2R1_HUMAN;.	L	92;325	ENSP00000435484:F92L;ENSP00000334592:F325L	ENSP00000334592:F325L	F	-	3	2	CYP2R1	14858283	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.953000	0.40352	0.488000	0.27723	-0.176000	0.13171	TTC	CYP2R1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	ENSG00000186104		0.413	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2R1	HGNC	protein_coding	OTTHUMT00000386985.1	-	0	73	0	G	NM_024514		14901707	-1	tier1	-	no_errors	ENST00000334636	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	14901707	G	T	14901707	3	4	5	1	0	0	0	0	1	0	0	0	4182	1281	45	3	542	3	CYP2R1	11	14901707	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	7880171	14901707	120104809	109	1373											
GTF2H1	2965	genome.wustl.edu	37	chr11	18361174	18361174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatttaacttctgatatcAttgagtccatatttaggacc	13	16	5	7	0	2	2	1	2	1	0	3	3	3	3	2	1	1	0	2	1	5	9			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:18361174A>G	ENST00000265963.4	+	5	737	c.577A>G	c.(577-579)Att>Gtt	p.I193V	GTF2H1_ENST00000534641.1_Missense_Mutation_p.I77V|GTF2H1_ENST00000524753.4_5'UTR|GTF2H1_ENST00000453096.2_Missense_Mutation_p.I193V	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	193	BSD 2. {ECO:0000255|PROSITE- ProRule:PRU00036}.				7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TTCTGATATCATTGAGTCCAT	0.363								Nucleotide excision repair (NER)																																									0													109	103	105					11																	18361174		2199	4293	6492	SO:0001583	missense	0				CCDS7838.1	11p15.1-p14	2012-11-05	2002-08-29		ENSG00000110768	ENSG00000110768		"General transcription factors", "General transcription factor IIH complex subunits"	4655	protein-coding gene	gene with protein product		189972	"general transcription factor IIH, polypeptide 1 (62kD subunit)"			1529339, 8162052	Standard	NM_005316		Approved	BTF2, P62, TFIIH	uc001moh.2	P32780	OTTHUMG00000167690	ENST00000265963.4:c.577A>G	11.37:g.18361174A>G	ENSP00000265963:p.Ile193Val		B3KXE0|D3DQY2|Q6I9Y7|Q9H5K5|Q9NQD9	Missense_Mutation	SNP	pfam_BSD,pfam_TFIIH_BTF_p62_N,smart_BSD,pfscan_BSD	p.I193V	ENST00000265963.4	37	c.577	CCDS7838.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590931	0.86851	.	.	ENSG00000110768	ENST00000453096;ENST00000534641;ENST00000265963	T;T;T	0.53423	0.62;0.62;0.62	5.64	5.64	0.86602	BSD (3);	0.045135	0.85682	D	0.000000	T	0.56046	0.1959	L	0.45698	1.435	0.80722	D	1	P	0.48998	0.918	P	0.54706	0.759	T	0.53005	-0.8499	10	0.37606	T	0.19	-8.988	15.9036	0.79403	1.0:0.0:0.0:0.0	.	193	P32780	TF2H1_HUMAN	V	193;77;193	ENSP00000393638:I193V;ENSP00000435375:I77V;ENSP00000265963:I193V	ENSP00000265963:I193V	I	+	1	0	GTF2H1	18317750	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.930000	0.92872	2.157000	0.67596	0.529000	0.55759	ATT	GTF2H1	-	pfam_BSD,smart_BSD,pfscan_BSD	ENSG00000110768		0.363	GTF2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H1	HGNC	protein_coding	OTTHUMT00000395627.2		0	36	0	A	NM_005316		18361174	1			no_errors	ENST00000265963	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	G	G	18361174	A	G	18361174	3	3	5	1	0	0	0	0	1	0	0	0	6887	217	8	4	591	4	GTF2H1	11	18361174	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	3459467	18361174	116645342	110	1374											
DBX1	120237	genome.wustl.edu	37	chr11	20177891	20177891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcagccgcgggtcccGcaggtgctgggggtcggagg	3	5	20	13	4	0	0	0	0	0	0	2	1	1	1	3	7	2	3	3	7	0	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:20177891G>A	ENST00000524983.2	-	4	1189	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	DBX1_ENST00000227256.3_Missense_Mutation_p.R340W			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	301					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CGCGGGTCCCGCAGGTGCTGG	0.726																																																	0													17	22	20					11																	20177891		2170	4242	6412	SO:0001583	missense	0					11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.901C>T	11.37:g.20177891G>A	ENSP00000436881:p.Arg301Trp			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R340W	ENST00000524983.2	37	c.1018		11	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938243	0.73557	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91237	-2.81;0.09	5.13	5.13	0.70059	.	0.263157	0.27008	N	0.021394	D	0.86314	0.5903	N	0.24115	0.695	0.27271	N	0.958377	D	0.64830	0.994	P	0.50270	0.636	T	0.81002	-0.1130	10	0.87932	D	0	-19.1781	7.7397	0.28835	0.0826:0.0:0.7539:0.1634	.	340	F8W811	.	W	301;340	ENSP00000436881:R301W;ENSP00000227256:R340W	ENSP00000227256:R340W	R	-	1	2	DBX1	20134467	0.890000	0.30428	0.225000	0.23894	0.840000	0.47671	2.531000	0.45650	2.384000	0.81235	0.655000	0.94253	CGG	DBX1	-	NULL	ENSG00000109851		0.726	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	-	0	70	0	G	NM_001029865		20177891	-1	tier1	-	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	33.33	40	21	SNP	0.979	A	A	20177891	G	A	20177891	3	1	5	1	0	0	0	0	1	0	0	0	4268	1086	38	1	134	1	DBX1	11	20177891	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1816717	20177891	114828625	111	1375											
QSER1	79832	genome.wustl.edu	37	chr11	32953772	32953772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttattaaacaccatcagcGgccttcaggtacccagtcaa	12	10	7	12	1	3	0	3	0	0	0	3	0	3	0	3	2	3	2	3	2	5	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:32953772G>T	ENST00000399302.2	+	4	916	c.581G>T	c.(580-582)cGg>cTg	p.R194L	QSER1_ENST00000527788.1_Missense_Mutation_p.R194L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	194	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CACCATCAGCGGCCTTCAGGT	0.408																																																	0													83	77	79					11																	32953772		1882	4101	5983	SO:0001583	missense	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.581G>T	11.37:g.32953772G>T	ENSP00000382241:p.Arg194Leu		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.R194L	ENST00000399302.2	37	c.581	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800536	0.70567	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.60424	0.3;0.19	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000021	T	0.76083	0.3938	M	0.70275	2.135	0.37644	D	0.92214	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78735	-0.2088	10	0.48119	T	0.1	.	19.0613	0.93095	0.0:0.0:1.0:0.0	.	194;194	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	L	194	ENSP00000382241:R194L;ENSP00000432766:R194L	ENSP00000078652:R194L	R	+	2	0	QSER1	32910348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.416000	0.97383	2.579000	0.87056	0.655000	0.94253	CGG	QSER1	-	NULL	ENSG00000060749		0.408	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1		0	26	0	G	NM_024774		32953772	1			no_errors	ENST00000399302	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	32953772	G	T	32953772	3	4	5	1	0	0	0	0	1	0	0	0	12927	1116	39	2	587	2	QSER1	11	32953772	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	12775881	32953772	102052744	112	1376											
LRP4	4038	genome.wustl.edu	37	chr11	46896435	46896435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgacattgttgagctcaGgaacagggacatgcacatcg	13	8	12	8	1	1	3	1	2	0	1	2	5	1	5	0	2	3	3	0	2	1	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:46896435G>T	ENST00000378623.1	-	28	4387	c.4145C>A	c.(4144-4146)cCt>cAt	p.P1382H	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1382					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTGAGCTCAGGAACAGGGAC	0.522																																																	0													161	131	141					11																	46896435		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4145C>A	11.37:g.46896435G>T	ENSP00000367888:p.Pro1382His		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P1382H	ENST00000378623.1	37	c.4145	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007234	0.75046	.	.	ENSG00000134569	ENST00000378623	D	0.91577	-2.87	5.67	5.67	0.87782	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.89164	0.6637	L	0.58583	1.82	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	D	0.84228	0.0465	10	0.22706	T	0.39	.	19.7824	0.96422	0.0:0.0:1.0:0.0	.	1382	O75096	LRP4_HUMAN	H	1382	ENSP00000367888:P1382H	ENSP00000367888:P1382H	P	-	2	0	LRP4	46853011	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.760000	0.85248	2.677000	0.91161	0.561000	0.74099	CCT	LRP4	-	smart_LDLR_classB_rpt	ENSG00000134569		0.522	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0	39	0	G	NM_002334		46896435	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.999	T	T	46896435	G	T	46896435	3	4	5	1	0	0	0	0	1	0	0	0	8994	1000	35	3	1616	3	LRP4	11	46896435	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	13942663	46896435	88110081	113	1377											
CATSPER1	117144	genome.wustl.edu	37	chr11	65793402	65793402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccgagatattggggtctgCcatggtgagaccccctatgg	8	9	13	11	1	1	2	0	1	1	2	1	4	1	2	4	4	1	0	4	4	2	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:65793402C>T	ENST00000312106.5	-	1	586	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	150	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TTGGGGTCTGCCATGGTGAGA	0.567																																																	0													62	54	56					11																	65793402		2201	4296	6497	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.449G>A	11.37:g.65793402C>T	ENSP00000309052:p.Gly150Asp		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.G150D	ENST00000312106.5	37	c.449	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	C	4.529	0.098145	0.08681	.	.	ENSG00000175294	ENST00000312106	D	0.98234	-4.81	1.4	-1.91	0.07641	.	3.944920	0.00822	N	0.001580	D	0.95579	0.8563	L	0.47716	1.5	0.09310	N	1	P	0.37466	0.596	B	0.34722	0.188	D	0.90903	0.4770	10	0.34782	T	0.22	0.7865	4.6854	0.12755	0.0:0.453:0.0:0.547	.	150	Q8NEC5	CTSR1_HUMAN	D	150	ENSP00000309052:G150D	ENSP00000309052:G150D	G	-	2	0	CATSPER1	65549978	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.831000	0.04405	-0.559000	0.06110	0.313000	0.20887	GGC	CATSPER1	-	NULL	ENSG00000175294		0.567	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1		0	22	0	C	NM_053054		65793402	-1			no_errors	ENST00000312106	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T	T	65793402	C	T	65793402	3	4	5	1	0	0	0	0	1	0	0	0	2694	739	26	3	1941	3	CATSPER1	11	65793402	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	18896967	65793402	69213114	114	1378											
TBC1D10C	374403	genome.wustl.edu	37	chr11	67174340	67174340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttcatggccctgctgCggcggctgcttccgcacgtg	3	10	15	13	4	1	0	1	0	0	0	2	0	2	0	2	4	3	5	2	4	0	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:67174340C>T	ENST00000542590.1	+	7	705	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	TBC1D10C_ENST00000526387.1_Intron|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.R231W			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	231	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCCTGCTGCGGCGGCTGCT	0.692																																																	0													53	58	56					11																	67174340		2194	4283	6477	SO:0001583	missense	0			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.691C>T	11.37:g.67174340C>T	ENSP00000443654:p.Arg231Trp		G3V1D6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R231W	ENST00000542590.1	37	c.691	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811701	0.70797	.	.	ENSG00000175463	ENST00000312390;ENST00000542590	T;T	0.26373	1.74;1.74	3.88	0.531	0.17108	Rab-GAP/TBC domain (5);	0.202066	0.24258	N	0.040107	T	0.45518	0.1346	M	0.77486	2.375	0.42236	D	0.991912	D	0.71674	0.998	D	0.70016	0.967	T	0.45071	-0.9286	10	0.87932	D	0	.	9.0054	0.36109	0.2629:0.5913:0.1458:0.0	.	231	Q8IV04	TB10C_HUMAN	W	231	ENSP00000310193:R231W;ENSP00000443654:R231W	ENSP00000310193:R231W	R	+	1	2	TBC1D10C	66930916	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	1.247000	0.32815	0.281000	0.22233	0.462000	0.41574	CGG	TBC1D10C	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000175463		0.692	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	-	0	46	0	C	NM_198517		67174340	1	tier1	-	no_errors	ENST00000312390	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	67174340	C	T	67174340	3	4	5	1	0	0	0	0	1	0	0	0	15647	759	27	1	717	1	TBC1D10C	11	67174340	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	1380938	67174340	67832176	115	1379											
RNF121	55298	genome.wustl.edu	37	chr11	71705781	71705781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagttctacagcgagtcggGcatgcctaccaaacatcttt	10	11	8	12	2	3	0	1	0	2	0	4	1	3	0	2	1	5	2	2	1	3	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:71705781G>A	ENST00000361756.3	+	7	1005	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RNF121_ENST00000530137.1_Missense_Mutation_p.G183D|RNF121_ENST00000533380.1_Missense_Mutation_p.G55D|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.G134D|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	215						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGCGAGTCGGGCATGCCTACC	0.493																																																	0													262	216	231					11																	71705781		2200	4293	6493	SO:0001583	missense	0			AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"RING-type (C3HC4) zinc fingers"	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.644G>A	11.37:g.71705781G>A	ENSP00000354571:p.Gly215Asp		B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G215D	ENST00000361756.3	37	c.644	CCDS8203.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265151	0.80358	.	.	ENSG00000137522	ENST00000361756;ENST00000533380;ENST00000545854;ENST00000530137	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.71920	2.185	0.80722	D	1	P;B	0.34780	0.468;0.153	B;B	0.37780	0.258;0.062	T	0.01574	-1.1321	10	0.56958	D	0.05	-6.625	19.3531	0.94398	0.0:0.0:1.0:0.0	.	183;215	G3V148;Q9H920	.;RN121_HUMAN	D	215;55;134;183	ENSP00000354571:G215D;ENSP00000433574:G55D;ENSP00000443799:G134D;ENSP00000431286:G183D	ENSP00000354571:G215D	G	+	2	0	RNF121	71383429	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.093000	0.94163	2.941000	0.99782	0.655000	0.94253	GGC	RNF121	-	NULL	ENSG00000137522		0.493	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF121	HGNC	protein_coding	OTTHUMT00000347132.1	-	0	57	0	G	NM_018320		71705781	1	tier1	-	no_errors	ENST00000361756	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	71705781	G	A	71705781	3	1	5	1	0	0	0	0	1	0	0	0	13476	1203	42	3	670	3	RNF121	11	71705781	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	4531441	71705781	63300735	116	1380											
CNTN5	53942	genome.wustl.edu	37	chr11	100170048	100170048	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccctcctcttactccctTtgaagtgaaagttggcgttt	6	16	8	11	1	1	2	0	2	1	0	4	2	4	2	3	1	1	2	3	1	3	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:100170048T>A	ENST00000524871.1	+	20	2830	c.2540T>A	c.(2539-2541)tTt>tAt	p.F847Y	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.F847Y|CNTN5_ENST00000528682.1_Missense_Mutation_p.F847Y|CNTN5_ENST00000527185.1_Missense_Mutation_p.F847Y|CNTN5_ENST00000418526.2_Missense_Mutation_p.F773Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	847	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTACTCCCTTTGAAGTGAAA	0.408																																																	0													101	96	97					11																	100170048		1844	4080	5924	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2540T>A	11.37:g.100170048T>A	ENSP00000435637:p.Phe847Tyr		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.F847Y	ENST00000524871.1	37	c.2540	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213608	0.79352	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.16066	0.365	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.991;0.995	T	0.38650	-0.9651	10	0.33940	T	0.23	.	15.0047	0.71501	0.0:0.0:0.0:1.0	.	773;847	O94779-2;O94779	.;CNTN5_HUMAN	Y	847;847;847;773;847	ENSP00000433575:F847Y;ENSP00000436185:F847Y;ENSP00000435637:F847Y;ENSP00000393229:F773Y;ENSP00000279463:F847Y	ENSP00000279463:F847Y	F	+	2	0	CNTN5	99675258	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.963000	0.87922	2.149000	0.67028	0.528000	0.53228	TTT	CNTN5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149972		0.408	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	90	0	T	NM_014361		100170048	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	A	A	100170048	T	A	100170048	3	1	5	1	0	0	0	0	1	0	0	0	3651	1841	64	5	2610	5	CNTN5	11	100170048	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	28464267	100170048	34836468	117	1381											
MMP1	4312	genome.wustl.edu	37	chr11	102662186	102662186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtccttggggtatccGtgtagcacattctgtccctg	6	14	11	10	1	1	1	0	0	1	1	4	1	4	1	3	2	1	3	3	2	3	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:102662186G>A	ENST00000315274.6	-	8	1141	c.1074C>T	c.(1072-1074)caC>caT	p.H358H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	358					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TGGGGTATCCGTGTAGCACAT	0.443																																																	0													245	225	231					11																	102662186		2203	4299	6502	SO:0001819	synonymous_variant	0			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1074C>T	11.37:g.102662186G>A			P08156	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.H358	ENST00000315274.6	37	c.1074	CCDS8322.1	11																																																																																			MMP1	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans	ENSG00000196611		0.443	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0	55	0	G	NM_002421		102662186	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.000	A	A	102662186	G	A	102662186	2	1	5	1	0	0	0	0	0	0	0	1	9686	1136	40	1		1	MMP1	11	102662186	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	2492138	102662186	32344330	118	1382											
DDI1	414301	genome.wustl.edu	37	chr11	103908640	103908640	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agacttattttcttcctgagGgagagttgcccttatgctct	7	16	9	9	0	2	3	0	1	2	2	3	4	3	3	2	1	2	2	2	1	2	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr11:103908640G>T	ENST00000302259.3	+	1	1333	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	364							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCTTCCTGAGGGAGAGTTGCC	0.458																																																	0													74	74	74					11																	103908640		2202	4299	6501	SO:0001587	stop_gained	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.1090G>T	11.37:g.103908640G>T	ENSP00000302805:p.Gly364*		Q7Z4U6|Q8WTS3	Nonsense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.G364*	ENST00000302259.3	37	c.1090	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.051868	0.93793	.	.	ENSG00000170967	ENST00000302259	.	.	.	4.97	4.06	0.47325	.	0.132511	0.49305	D	0.000146	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-29.3307	11.1844	0.48646	0.0908:0.0:0.9092:0.0	.	.	.	.	X	364	.	ENSP00000302805:G364X	G	+	1	0	DDI1	103413850	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.034000	0.57289	2.769000	0.95229	0.655000	0.94253	GGA	DDI1	-	NULL	ENSG00000170967		0.458	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	-	0	77	0	G	NM_001001711		103908640	1	tier1	-	no_errors	ENST00000302259	ensembl	human	known	74_37	nonsense	50.00	30	30	SNP	1.000	T	T	103908640	G	T	103908640	4	4	5	1	0	0	0	0	0	1	0	0	4337	1233	43	3	1092	3	DDI1	11	103908640	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1246454	103908640	31097876	119	1383											
NCAPD2	9918	genome.wustl.edu	37	chr12	6635321	6635321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaggactacaggctggcCcagcaggtgtgccatgccat	9	6	12	14	0	0	0	0	0	0	0	0	1	0	1	4	4	4	2	4	4	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:6635321C>T	ENST00000315579.5	+	19	3235	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Silent_p.A767A	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	812					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						ACAGGCTGGCCCAGCAGGTGT	0.522																																																	0													73	71	71					12																	6635321		2203	4300	6503	SO:0001819	synonymous_variant	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2436C>T	12.37:g.6635321C>T			D3DUR4|Q8N6U3	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.A812	ENST00000315579.5	37	c.2436	CCDS8548.1	12																																																																																			NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.522	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0	54	0	C	NM_014865		6635321	1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	silent	78.26	15	54	SNP	1.000	T	T	6635321	C	T	6635321	2	4	5	1	0	0	0	0	0	0	0	1	10244	610	22	3		3	NCAPD2	12	6635321	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		6635321	127216574	120	1384											
NELL2	4753	genome.wustl.edu	37	chr12	45173759	45173759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgactgcctgagcggtaatGcagtctgacttcattccgat	8	12	11	10	2	2	3	1	3	1	0	3	4	3	3	2	1	3	2	2	1	1	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:45173759G>T	ENST00000429094.2	-	4	886	c.382C>A	c.(382-384)Cat>Aat	p.H128N	NELL2_ENST00000333837.4_Missense_Mutation_p.H151N|NELL2_ENST00000437801.2_Missense_Mutation_p.H178N|NELL2_ENST00000551601.1_Missense_Mutation_p.H127N|NELL2_ENST00000549027.1_Missense_Mutation_p.H127N|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.H127N|NELL2_ENST00000452445.2_Missense_Mutation_p.H128N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	128	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GAGCGGTAATGCAGTCTGACT	0.473																																																	0													166	150	155					12																	45173759		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.382C>A	12.37:g.45173759G>T	ENSP00000390680:p.His128Asn		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.H178N	ENST00000429094.2	37	c.532	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.073653	0.94000	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.097975	0.64402	D	0.000001	D	0.89072	0.6611	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.998;0.994;0.991;0.985;0.994	D;D;P;D;P;D	0.79108	0.992;0.978;0.882;0.988;0.88;0.962	D	0.90079	0.4169	10	0.87932	D	0	-17.5124	19.4004	0.94627	0.0:0.0:1.0:0.0	.	151;178;127;128;128;127	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	N	127;128;127;128;127;151;178;127;128;125	ENSP00000378866:H127N;ENSP00000390680:H128N;ENSP00000449332:H127N;ENSP00000394612:H128N;ENSP00000447927:H127N;ENSP00000327988:H151N;ENSP00000416341:H178N;ENSP00000447085:H128N;ENSP00000447384:H125N	ENSP00000327988:H151N	H	-	1	0	NELL2	43460026	1.000000	0.71417	0.769000	0.31535	0.994000	0.84299	9.808000	0.99193	2.577000	0.86979	0.655000	0.94253	CAT	NELL2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000184613		0.473	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	84	0	G	NM_006159		45173759	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	75.86	14	44	SNP	1.000	T	T	45173759	G	T	45173759	3	4	5	1	0	0	0	0	1	0	0	0	10373	1319	46	3	2136	3	NELL2	12	45173759	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	38538438	45173759	88678136	121	1385											
NELL2	4753	genome.wustl.edu	37	chr12	45173789	45173789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattccgatggccactacTttccagttccaggtacctgc	7	13	7	14	1	1	0	1	0	0	0	4	1	4	0	5	2	3	2	5	2	2	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:45173789T>A	ENST00000429094.2	-	4	856	c.352A>T	c.(352-354)Agt>Tgt	p.S118C	NELL2_ENST00000333837.4_Missense_Mutation_p.S141C|NELL2_ENST00000437801.2_Missense_Mutation_p.S168C|NELL2_ENST00000551601.1_Missense_Mutation_p.S117C|NELL2_ENST00000549027.1_Missense_Mutation_p.S117C|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.S117C|NELL2_ENST00000452445.2_Missense_Mutation_p.S118C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	118	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGGCCACTACTTTCCAGTTCC	0.463																																																	0													128	120	123					12																	45173789		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.352A>T	12.37:g.45173789T>A	ENSP00000390680:p.Ser118Cys		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.S168C	ENST00000429094.2	37	c.502	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725427	0.89298	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.091023	0.85682	D	0.000000	D	0.88336	0.6409	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.974;0.997;0.973;0.994	D	0.90040	0.4141	10	0.87932	D	0	-22.7925	15.3486	0.74363	0.0:0.0:0.0:1.0	.	141;168;117;118;118;117	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	C	117;118;117;118;117;141;168;117;118;115	ENSP00000378866:S117C;ENSP00000390680:S118C;ENSP00000449332:S117C;ENSP00000394612:S118C;ENSP00000447927:S117C;ENSP00000327988:S141C;ENSP00000416341:S168C;ENSP00000447085:S118C;ENSP00000447384:S115C	ENSP00000327988:S141C	S	-	1	0	NELL2	43460056	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.992000	0.88273	2.021000	0.59480	0.533000	0.62120	AGT	NELL2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000184613		0.463	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	72	0	T	NM_006159		45173789	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	A	A	45173789	T	A	45173789	3	1	5	1	0	0	0	0	1	0	0	0	10373	1609	56	5	2166	5	NELL2	12	45173789	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	30	45173789	88678106	122	1386											
COL2A1	1280	genome.wustl.edu	37	chr12	48367957	48367957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggagccctggatgagcAgggccttcttgaggttgcca	7	10	14	10	0	1	2	0	2	1	0	1	4	1	4	3	4	3	2	3	4	0	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:48367957A>T	ENST00000380518.3	-	53	4396	c.4232T>A	c.(4231-4233)cTg>cAg	p.L1411Q	COL2A1_ENST00000337299.6_Missense_Mutation_p.L1342Q|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1411	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGGATGAGCAGGGCCTTCTT	0.592																																																	0													124	100	108					12																	48367957		2203	4300	6503	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4232T>A	12.37:g.48367957A>T	ENSP00000369889:p.Leu1411Gln		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L1411Q	ENST00000380518.3	37	c.4232	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670317	0.67814	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.76316	-1.01;-1.01	5.06	5.06	0.68205	Fibrillar collagen, C-terminal (4);	0.353208	0.22860	N	0.054746	D	0.86948	0.6056	H	0.94886	3.595	0.47245	D	0.99936	P;P	0.42123	0.729;0.771	B;P	0.46208	0.373;0.507	D	0.90348	0.4364	10	0.87932	D	0	.	14.7676	0.69651	1.0:0.0:0.0:0.0	.	1342;1411	P02458-1;P02458	.;CO2A1_HUMAN	Q	1411;1342;1342	ENSP00000369889:L1411Q;ENSP00000338213:L1342Q	ENSP00000338213:L1342Q	L	-	2	0	COL2A1	46654224	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	7.459000	0.80802	2.024000	0.59613	0.533000	0.62120	CTG	COL2A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000139219		0.592	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0	46	0	A	NM_001844		48367957	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.998	T	T	48367957	A	T	48367957	3	4	5	1	0	0	0	0	1	0	0	0	3694	188	7	5	239	5	COL2A1	12	48367957	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	3194168	48367957	85483938	123	1387											
RAB3IP	117177	genome.wustl.edu	37	chr12	70150282	70150282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaactataatgcagagagaGagtttttacagggtgctact	14	11	10	6	0	0	2	0	0	0	2	0	4	0	2	0	1	5	3	0	1	5	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:70150282G>C	ENST00000247833.7	+	3	725	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	RAB3IP_ENST00000550536.1_Missense_Mutation_p.E133Q|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E133Q|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E117Q|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000483530.2_Missense_Mutation_p.E117Q					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCAGAGAGAGAGTTTTTACA	0.433																																																	0													210	203	206					12																	70150282		2203	4300	6503	SO:0001583	missense	0				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"rabin3"	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.349G>C	12.37:g.70150282G>C	ENSP00000247833:p.Glu117Gln			Missense_Mutation	SNP	pfam_Sec2p	p.E133Q	ENST00000247833.7	37	c.397	CCDS8995.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893812|4.893812	0.91889|0.91889	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025|ENST00000550647	T;T|.	0.52754|.	0.66;0.65|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.254037|.	0.45361|.	D|.	0.000368|.	T|T	0.62527|0.62527	0.2435|0.2435	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.69078|.	0.914;0.997;0.914;0.974|.	P;D;P;P|.	0.75484|.	0.656;0.986;0.656;0.796|.	T|T	0.62831|0.62831	-0.6771|-0.6771	10|6	0.26408|0.59425	T|D	0.33|0.04	-3.2759|-3.2759	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	133;133;117;117|.	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7|.	.;RAB3I_HUMAN;.;.|.	Q|T	117;117;117;117;133;133|6	ENSP00000247833:E117Q;ENSP00000447300:E133Q|.	ENSP00000247833:E117Q|ENSP00000448218:R6T	E|R	+|+	1|2	0|0	RAB3IP|RAB3IP	68436549|68436549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.441000|6.441000	0.73439|0.73439	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|AGA	RAB3IP	-	NULL	ENSG00000127328		0.433	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IP	HGNC	protein_coding	OTTHUMT00000280671.2	-	0	69	0	G	NM_022456		70150282	1	tier1	-	no_errors	ENST00000550536	ensembl	human	known	74_37	missense	45.95	40	34	SNP	1.000	C	C	70150282	G	C	70150282	3	2	5	1	0	0	0	0	1	0	0	0	12983	943	33	5	407	5	RAB3IP	12	70150282	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	21782325	70150282	63701613	124	1388											
TRHDE	29953	genome.wustl.edu	37	chr12	73012777	73012777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagctctttatcctctaGataaattactggaccgcatg	10	12	8	11	2	2	1	0	0	2	1	3	3	3	2	3	1	2	2	3	1	5	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:73012777G>T	ENST00000261180.4	+	13	2389	c.2293G>T	c.(2293-2295)Gat>Tat	p.D765Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	765					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTATCCTCTAGATAAATTACT	0.348																																																	0													49	52	51					12																	73012777		2202	4300	6502	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2293G>T	12.37:g.73012777G>T	ENSP00000261180:p.Asp765Tyr		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D765Y	ENST00000261180.4	37	c.2293	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156265	0.57259	.	.	ENSG00000072657	ENST00000261180	T	0.05649	3.41	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	L	0.33753	1.03	0.80722	D	1	P	0.48162	0.906	P	0.49922	0.626	T	0.15752	-1.0426	10	0.24483	T	0.36	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	765	Q9UKU6	TRHDE_HUMAN	Y	765	ENSP00000261180:D765Y	ENSP00000261180:D765Y	D	+	1	0	TRHDE	71299044	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.055000	0.93873	2.885000	0.99019	0.655000	0.94253	GAT	TRHDE	-	NULL	ENSG00000072657		0.348	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	82	0	G	NM_013381		73012777	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	73012777	G	T	73012777	3	4	5	1	0	0	0	0	1	0	0	0	16527	942	33	3	2343	3	TRHDE	12	73012777	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	2862495	73012777	60839118	125	1389											
TRHDE	29953	genome.wustl.edu	37	chr12	73046867	73046867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgtcataatccatgtagCtcgaaatccacatggtcgag	12	11	9	9	2	1	1	1	1	0	0	5	3	3	1	2	1	1	2	2	1	3	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:73046867C>T	ENST00000261180.4	+	17	2876	c.2780C>T	c.(2779-2781)gCt>gTt	p.A927V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	927					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATCCATGTAGCTCGAAATCCA	0.353																																																	0													87	85	86					12																	73046867		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2780C>T	12.37:g.73046867C>T	ENSP00000261180:p.Ala927Val		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A927V	ENST00000261180.4	37	c.2780	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421970	0.83559	.	.	ENSG00000072657	ENST00000261180	T	0.06218	3.33	5.47	5.47	0.80525	.	0.055019	0.64402	D	0.000001	T	0.23094	0.0558	L	0.59967	1.855	0.58432	D	0.999998	D	0.71674	0.998	D	0.69307	0.963	T	0.00101	-1.2064	10	0.72032	D	0.01	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	927	Q9UKU6	TRHDE_HUMAN	V	927	ENSP00000261180:A927V	ENSP00000261180:A927V	A	+	2	0	TRHDE	71333134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.866000	0.63005	2.582000	0.87167	0.655000	0.94253	GCT	TRHDE	-	NULL	ENSG00000072657		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	63	0	C	NM_013381		73046867	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	23.21	42	13	SNP	1.000	T	T	73046867	C	T	73046867	3	4	5	1	0	0	0	0	1	0	0	0	16527	797	28	3	2846	3	TRHDE	12	73046867	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	34090	73046867	60805028	126	1390											
NFYB	4801	genome.wustl.edu	37	chr12	104519904	104519904	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgttacctttcccgtttgAggtatggcatttttcattat	7	19	7	8	2	1	1	1	1	0	0	2	1	2	1	2	2	2	4	2	2	4	8			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:104519904A>C	ENST00000240055.3	-	4	446	c.219T>G	c.(217-219)ccT>ccG	p.P73P	NFYB_ENST00000551727.1_Silent_p.P73P|RNA5SP370_ENST00000362545.1_RNA	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	73	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTCCCGTTTGAGGTATGGCAT	0.363																																																	0													193	175	181					12																	104519904		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.219T>G	12.37:g.104519904A>C			A8K7B9|Q96IY8	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.P73	ENST00000240055.3	37	c.219	CCDS9098.1	12																																																																																			NFYB	-	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	ENSG00000120837		0.363	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	-	0	62	0	A			104519904	-1	tier1	-	no_errors	ENST00000240055	ensembl	human	known	74_37	silent	33.93	37	19	SNP	1.000	C	C	104519904	A	C	104519904	2	2	5	1	0	0	0	0	0	0	0	1	10429	291	11	4		4	NFYB	12	104519904	Silent	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	31473037	104519904	29331991	127	1391											
C12orf51	283450	genome.wustl.edu	37	chr12	112685315	112685315	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcccatcaaaggagacttCcttcattgaacataaaagtt	15	12	5	9	0	2	2	2	1	0	1	4	3	4	2	2	1	1	1	2	1	4	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:112685315C>A	ENST00000430131.2	-	27	4167	c.3022G>T	c.(3022-3024)Gaa>Taa	p.E1008*	HECTD4_ENST00000550722.1_Nonsense_Mutation_p.E1284*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.E1258*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1008					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AAGGAGACTTCCTTCATTGAA	0.318																																																	0													58	53	55					12																	112685315		1826	4072	5898	SO:0001587	stop_gained	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3022G>T	12.37:g.112685315C>A	ENSP00000404379:p.Glu1008*		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.E1258*	ENST00000430131.2	37	c.3772		12	.	.	.	.	.	.	.	.	.	.	C	50	16.551411	0.99866	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0	0.92829	0.0:1.0:0.0:0.0	.	.	.	.	X	1258;1008;1284	.	ENSP00000366783:E1258X	E	-	1	0	C12orf51	111169698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.479000	0.83701	0.650000	0.86243	GAA	HECTD4	-	NULL	ENSG00000173064		0.318	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	52	0	C	NM_173813		112685315	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	1.000	A	A	112685315	C	A	112685315	4	1	5	1	0	0	0	0	0	1	0	0	1701	864	30	3	9164	3	C12orf51	12	112685315	Nonsense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	8165411	112685315	21166580	128	1392											
VSIG10	54621	genome.wustl.edu	37	chr12	118506354	118506354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcctcTtcctcttctgaatccaccaa	5	14	1	21	0	3	1	0	1	3	0	11	1	11	1	9	0	0	0	9	0	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:118506354T>C	ENST00000359236.5	-	8	1671	c.1395A>G	c.(1393-1395)gaA>gaG	p.E465E		NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	465	Glu-rich.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						cctcctcctcttcctcttcTG	0.458																																																	0													97	90	93					12																	118506354		2037	4183	6220	SO:0001819	synonymous_variant	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.1395A>G	12.37:g.118506354T>C			Q9NWQ7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E465	ENST00000359236.5	37	c.1395	CCDS44992.1	12																																																																																			VSIG10	-	NULL	ENSG00000176834		0.458	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2		0	50	0	T	NM_019086		118506354	-1			no_errors	ENST00000359236	ensembl	human	known	74_37	silent	12.07	51	7	SNP	0.942	C	C	118506354	T	C	118506354	2	2	5	1	0	0	0	0	0	0	0	1	17272	1606	56	4		4	VSIG10	12	118506354	Silent	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	5821039	118506354	15345541	129	1393											
SBNO1	55206	genome.wustl.edu	37	chr12	123818646	123818646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcaatgctgataaccagCcattatcaatggtttcctca	11	12	7	11	0	2	1	2	1	0	0	3	1	3	1	3	1	4	4	3	1	4	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:123818646C>T	ENST00000602398.1	-	7	990	c.863G>A	c.(862-864)gGc>gAc	p.G288D	SBNO1_ENST00000420886.2_Missense_Mutation_p.G288D|SBNO1_ENST00000267176.4_Missense_Mutation_p.G287D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G287D			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	288					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGATAACCAGCCATTATCAAT	0.368																																																	0													68	63	65					12																	123818646		2203	4300	6503	SO:0001583	missense	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.863G>A	12.37:g.123818646C>T	ENSP00000473665:p.Gly288Asp		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.G288D	ENST00000602398.1	37	c.863	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837536	0.91117	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.43294	0.95;0.95	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.70613	0.3244	M	0.85299	2.745	0.80722	D	1	D;P;D	0.89917	0.999;0.562;1.0	D;P;D	0.91635	0.99;0.537;0.999	T	0.73075	-0.4097	10	0.56958	D	0.05	-16.8169	19.9162	0.97063	0.0:1.0:0.0:0.0	.	288;287;286	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	D	288;287;287	ENSP00000387361:G288D;ENSP00000267176:G287D	ENSP00000267176:G287D	G	-	2	0	SBNO1	122384599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.726000	0.84824	2.710000	0.92621	0.650000	0.86243	GGC	SBNO1	-	superfamily_P-loop_NTPase	ENSG00000139697		0.368	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1		0	50	0	C	NM_018183		123818646	-1			no_errors	ENST00000420886	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	123818646	C	T	123818646	3	4	5	1	0	0	0	0	1	0	0	0	13907	739	26	3	3422	3	SBNO1	12	123818646	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	5312292	123818646	10033249	130	1394											
CCDC92	80212	genome.wustl.edu	37	chr12	124427302	124427302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttacctgtctgttccGaacttttgactgtcagctca	7	16	7	11	1	4	1	2	1	2	0	5	2	5	1	2	0	3	3	2	0	2	5	rs143142884		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr12:124427302G>T	ENST00000238156.3	-	4	566	c.212C>A	c.(211-213)tCg>tAg	p.S71*	CCDC92_ENST00000545891.1_Nonsense_Mutation_p.S54*|CCDC92_ENST00000544798.1_5'UTR|CCDC92_ENST00000545135.1_Nonsense_Mutation_p.S54*	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	71						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TGTCTGTTCCGAACTTTTGAC	0.383																																																	0													188	167	174					12																	124427302		2203	4300	6503	SO:0001587	stop_gained	0			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.212C>A	12.37:g.124427302G>T	ENSP00000238156:p.Ser71*		B3KNQ0|Q9H697	Nonsense_Mutation	SNP	NULL	p.S71*	ENST00000238156.3	37	c.212	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	G	57	28.862039	0.99974	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891;ENST00000539761;ENST00000535556;ENST00000539551	.	.	.	5.67	2.77	0.32553	.	0.309544	0.36482	N	0.002565	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8527	7.8342	0.29360	0.1491:0.1345:0.7164:0.0	.	.	.	.	X	71;54;54;71;54;71	.	ENSP00000238156:S71X	S	-	2	0	CCDC92	122993255	1.000000	0.71417	0.133000	0.22050	0.951000	0.60555	3.488000	0.53229	0.294000	0.22547	0.591000	0.81541	TCG	CCDC92	-	NULL	ENSG00000119242		0.383	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2	-	0	70	0	G	NM_025140		124427302	-1	tier1	-	no_errors	ENST00000238156	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.962	T	T	124427302	G	T	124427302	4	4	5	1	0	0	0	0	0	1	0	0	2878	1059	37	2	791	2	CCDC92	12	124427302	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	608656	124427302	9424593	131	1395											
RNF17	56163	genome.wustl.edu	37	chr13	25453361	25453361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatagtgacattatatgacGatgaacagcatccagttcat	15	11	8	7	1	1	4	1	3	0	1	2	5	2	4	1	0	2	2	1	0	4	4	rs371675646		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:25453361G>A	ENST00000255324.5	+	35	4862	c.4810G>A	c.(4810-4812)Gat>Aat	p.D1604N	RNF17_ENST00000381921.1_Missense_Mutation_p.D1562N|RNF17_ENST00000339524.3_Missense_Mutation_p.D614N	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1604					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTATATGACGATGAACAGCA	0.383													G|||	1	0.000199681	0	0	5008	,	,		21711	0		0	False		,,,				2504	0.001																0								G	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	109	94	99		4798,4810	4.9	1	13		99	0,8600		0,0,4300	no	missense,missense	RNF17	NM_001184993.1,NM_031277.2	23,23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	1600/1620,1604/1624	25453361	1,13005	2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4810G>A	13.37:g.25453361G>A	ENSP00000255324:p.Asp1604Asn		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.D1604N	ENST00000255324.5	37	c.4810	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	9.329	1.060063	0.19987	2.27E-4	0.0	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.22743	3.52;3.51;1.94	5.7	4.86	0.63082	.	0.000000	0.64402	D	0.000017	T	0.14657	0.0354	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.19073	0.033;0.001;0.009;0.011	B;B;B;B	0.12837	0.008;0.001;0.007;0.003	T	0.05649	-1.0872	10	0.31617	T	0.26	-12.194	12.14	0.53993	0.0806:0.0:0.9194:0.0	.	1600;614;1598;1604	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	N	1604;1562;614	ENSP00000255324:D1604N;ENSP00000371346:D1562N;ENSP00000344776:D614N	ENSP00000255324:D1604N	D	+	1	0	RNF17	24351361	1.000000	0.71417	0.973000	0.42090	0.015000	0.08874	4.537000	0.60643	1.414000	0.47017	-0.137000	0.14449	GAT	RNF17	-	NULL	ENSG00000132972		0.383	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	67	0	G	NM_031994		25453361	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	31.03	19	9	SNP	1.000	A	A	25453361	G	A	25453361	3	1	5	1	0	0	0	0	1	0	0	0	13506	1058	37	1	4948	1	RNF17	13	25453361	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		25453361	89716517	132	1396											
BRCA2	675	genome.wustl.edu	37	chr13	32971139	32971139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagactgtacttcagggccGtacactgctcaaatcattcc	12	10	7	12	1	3	1	3	0	0	1	4	1	4	1	2	1	3	3	2	1	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:32971139G>A	ENST00000380152.3	+	26	9839	c.9606G>A	c.(9604-9606)ccG>ccA	p.P3202P	BRCA2_ENST00000544455.1_Silent_p.P3202P			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3202					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTCAGGGCCGTACACTGCTC	0.393			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													247	240	242					13																	32971139		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9606G>A	13.37:g.32971139G>A			O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.P3202	ENST00000380152.3	37	c.9606	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2		0	82	0	G	NM_000059		32971139	1			no_errors	ENST00000380152	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.000	A	A	32971139	G	A	32971139	2	1	5	1	0	0	0	0	0	0	0	1	1503	1132	40	1		1	BRCA2	13	32971139	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	7517778	32971139	82198739	133	1397											
CCNA1	8900	genome.wustl.edu	37	chr13	37015357	37015357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaactatactgtgaacAagcacttttgggtaagattc	13	12	9	7	0	0	2	0	1	0	1	1	2	0	2	0	2	4	3	0	2	6	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:37015357A>G	ENST00000255465.4	+	7	1465	c.1201A>G	c.(1201-1203)Aag>Gag	p.K401E	CCNA1_ENST00000418263.1_Missense_Mutation_p.K400E|CCNA1_ENST00000440264.1_Missense_Mutation_p.K357E|CCNA1_ENST00000449823.1_Missense_Mutation_p.K357E			P78396	CCNA1_HUMAN	cyclin A1	401					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TACTGTGAACAAGCACTTTTG	0.403																																																	0													127	113	118					13																	37015357		2203	4300	6503	SO:0001583	missense	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1201A>G	13.37:g.37015357A>G	ENSP00000255465:p.Lys401Glu		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.K401E	ENST00000255465.4	37	c.1201	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	A	3.699	-0.062022	0.07317	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.19	3.98	0.46160	Cyclin, C-terminal (1);Cyclin-like (3);	0.420489	0.28187	N	0.016279	T	0.17916	0.0430	L	0.32530	0.975	0.24214	N	0.995464	B;B	0.16396	0.006;0.017	B;B	0.19666	0.015;0.026	T	0.17410	-1.0370	10	0.09590	T	0.72	.	12.6481	0.56746	0.8157:0.1843:0.0:0.0	.	400;401	P78396-2;P78396	.;CCNA1_HUMAN	E	357;357;400;401	ENSP00000400666:K357E;ENSP00000409873:K357E;ENSP00000396479:K400E;ENSP00000255465:K401E	ENSP00000255465:K401E	K	+	1	0	CCNA1	35913357	0.148000	0.22702	1.000000	0.80357	0.928000	0.56348	1.857000	0.39399	2.076000	0.62316	0.460000	0.39030	AAG	CCNA1	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.403	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	-	0	48	0	A	NM_003914		37015357	1	tier1	-	no_errors	ENST00000255465	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.952	G	G	37015357	A	G	37015357	3	3	5	1	0	0	0	0	1	0	0	0	2916	131	5	4	1227	4	CCNA1	13	37015357	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	4044218	37015357	78154521	134	1398											
ATP7B	540	genome.wustl.edu	37	chr13	52511786	52511786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaccttgtgcgaaggcagCacctctgcaaagactttgtt	9	10	10	12	1	1	1	0	0	1	1	1	2	1	1	3	1	3	4	3	1	2	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:52511786C>T	ENST00000242839.4	-	18	3885	c.3729G>A	c.(3727-3729)gtG>gtA	p.V1243V	ATP7B_ENST00000400370.3_Silent_p.V813V|ATP7B_ENST00000418097.2_Silent_p.V1178V|ATP7B_ENST00000344297.5_Silent_p.V1036V|ATP7B_ENST00000417240.2_Silent_p.V454V|ATP7B_ENST00000400366.3_Silent_p.V1132V|ATP7B_ENST00000448424.2_Silent_p.V1165V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1243					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCGAAGGCAGCACCTCTGCAA	0.527									Wilson disease																																								0													83	85	84					13																	52511786		2030	4191	6221	SO:0001819	synonymous_variant	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3729G>A	13.37:g.52511786C>T			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.V1243	ENST00000242839.4	37	c.3729	CCDS41892.1	13																																																																																			ATP7B	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000123191		0.527	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1		0	63	0	C	NM_000053		52511786	-1			no_errors	ENST00000242839	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.989	T	T	52511786	C	T	52511786	2	4	5	1	0	0	0	0	0	0	0	1	1192	697	25	3		3	ATP7B	13	52511786	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	15496429	52511786	62658092	135	1399											
RNF219	79596	genome.wustl.edu	37	chr13	79191193	79191193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggctttcttgaggcGattggtttcacgctcatact	6	15	10	10	2	3	1	2	1	1	0	4	2	4	1	1	3	1	3	1	3	1	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr13:79191193G>T	ENST00000282003.6	-	6	761	c.703C>A	c.(703-705)Cgc>Agc	p.R235S	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	235							zinc ion binding (GO:0008270)	p.R235C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TTCTTGAGGCGATTGGTTTCA	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											107	102	103					13																	79191193		2203	4300	6503	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.703C>A	13.37:g.79191193G>T	ENSP00000282003:p.Arg235Ser		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.R235S	ENST00000282003.6	37	c.703	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620264	0.66787	.	.	ENSG00000152193	ENST00000282003	.	.	.	6.17	6.17	0.99709	.	0.121708	0.56097	D	0.000037	T	0.56093	0.1962	M	0.61703	1.905	0.43798	D	0.996345	P	0.36282	0.546	B	0.33846	0.171	T	0.58891	-0.7556	9	0.56958	D	0.05	-10.8595	15.581	0.76439	0.0:0.0:0.8623:0.1377	.	235	Q5W0B1	RN219_HUMAN	S	235	.	ENSP00000282003:R235S	R	-	1	0	RNF219	78089194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.085000	0.76875	2.941000	0.99782	0.655000	0.94253	CGC	RNF219	-	NULL	ENSG00000152193		0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1		0	92	0	G	NM_024546		79191193	-1			no_errors	ENST00000282003	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	79191193	G	T	79191193	3	4	5	1	0	0	0	0	1	0	0	0	13527	1058	37	2	1481	2	RNF219	13	79191193	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	26679407	79191193	35978685	136	1400											
DHRS4	10901	genome.wustl.edu	37	chr14	24423088	24423088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacccgccgggacccgctcGcaaataaggtggccctggta	8	6	13	14	4	0	1	0	1	0	0	1	2	0	2	4	4	0	3	4	4	3	2	rs1043442		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:24423088G>A	ENST00000313250.5	+	1	294	c.91G>A	c.(91-93)Gca>Aca	p.A31T	DHRS4_ENST00000397073.2_Missense_Mutation_p.A13T|DHRS4_ENST00000558581.1_Missense_Mutation_p.A31T|DHRS4_ENST00000558263.1_Missense_Mutation_p.A31T|DHRS4_ENST00000421831.1_Missense_Mutation_p.A13T|DHRS4_ENST00000382761.3_Missense_Mutation_p.A13T|DHRS4_ENST00000397075.3_Missense_Mutation_p.A31T|DHRS4_ENST00000397074.3_Missense_Mutation_p.A31T|DHRS4_ENST00000559632.1_Missense_Mutation_p.A31T|DHRS4_ENST00000543741.2_Missense_Mutation_p.A31T|DHRS4_ENST00000308178.8_Missense_Mutation_p.A13T|DHRS4-AS1_ENST00000556379.1_RNA	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	31			A -> T (in dbSNP:rs1043442).		alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGACCCGCTCGCAAATAAGGT	0.662																																																	0													28	36	33					14																	24423088		2202	4297	6499	SO:0001583	missense	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.91G>A	14.37:g.24423088G>A	ENSP00000326219:p.Ala31Thr		B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.A31T	ENST00000313250.5	37	c.91	CCDS9605.1	14	.	.	.	.	.	.	.	.	.	.	.	12.31	1.900819	0.33535	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	D;D;T;T;T;T;T;T	0.85411	-1.85;-1.98;0.47;0.48;1.65;1.84;0.44;1.64	3.54	0.135	0.14775	NAD(P)-binding domain (1);	1.647540	0.03536	N	0.223207	T	0.75874	0.3909	L	0.41961	1.31	0.09310	N	0.99999	B;B;B;B;B;B	0.27932	0.194;0.0;0.0;0.019;0.024;0.001	B;B;B;B;B;B	0.23018	0.043;0.001;0.0;0.004;0.008;0.001	T	0.55341	-0.8156	10	0.16896	T	0.51	.	2.1202	0.03724	0.1185:0.1924:0.4921:0.197	rs1043442;rs3182992;rs17419686	31;31;31;31;31;31	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	T	31;13;13;13;13;31;31;31	ENSP00000326219:A31T;ENSP00000404147:A13T;ENSP00000380263:A13T;ENSP00000311993:A13T;ENSP00000372209:A13T;ENSP00000380265:A31T;ENSP00000380264:A31T;ENSP00000440508:A31T	ENSP00000311993:A13T	A	+	1	0	DHRS4	23492928	0.144000	0.22641	0.376000	0.26042	0.853000	0.48598	1.685000	0.37659	0.277000	0.22141	0.479000	0.44913	GCA	DHRS4	-	NULL	ENSG00000157326		0.662	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4	HGNC	protein_coding	OTTHUMT00000071857.3		0	126	0	G			24423088	1			no_errors	ENST00000313250	ensembl	human	known	74_37	missense	10.53	136	16	SNP	0.562	A	A	24423088	G	A	24423088	3	1	5	1	0	0	0	0	1	0	0	0	4506	1087	38	1	93	1	DHRS4	14	24423088	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		24423088	82926452	137	1401											
RNF31	55072	genome.wustl.edu	37	chr14	24617471	24617471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgaatgtgtggcagggggGccgagatgtgctgcgattat	7	12	17	5	2	0	2	0	1	0	1	0	4	0	2	1	4	2	2	1	4	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:24617471G>A	ENST00000324103.6	+	3	664	c.344G>A	c.(343-345)gGc>gAc	p.G115D	RP11-468E2.4_ENST00000558468.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000557878.1_3'UTR|PSME2_ENST00000560410.1_5'Flank|RNF31_ENST00000559275.1_5'UTR|PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000382687.3_5'Flank	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	115	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TGGCAGGGGGGCCGAGATGTG	0.572																																																	0													44	49	47					14																	24617471		2098	4234	6332	SO:0001583	missense	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.344G>A	14.37:g.24617471G>A	ENSP00000315112:p.Gly115Asp		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.G115D	ENST00000324103.6	37	c.344	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010242	0.93346	.	.	ENSG00000092098	ENST00000324103	T	0.52057	0.68	5.31	5.31	0.75309	PUB domain (1);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68100	-0.5498	10	0.87932	D	0	.	17.9131	0.88940	0.0:0.0:1.0:0.0	.	115	Q96EP0	RNF31_HUMAN	D	115	ENSP00000315112:G115D	ENSP00000315112:G115D	G	+	2	0	RNF31	23687311	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.315000	0.89983	2.779000	0.95612	0.655000	0.94253	GGC	RNF31	-	pfam_PUB_domain	ENSG00000092098		0.572	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3		0	33	0	G	NM_017999		24617471	1			no_errors	ENST00000324103	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	24617471	G	A	24617471	3	1	5	1	0	0	0	0	1	0	0	0	13532	1203	42	3	354	3	RNF31	14	24617471	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	194383	24617471	82732069	138	1402											
FOXG1	2290	genome.wustl.edu	37	chr14	29237611	29237611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggagatcccgtacgccAcgcaccacctcacggccgcc	8	3	11	19	6	1	1	1	0	0	1	2	2	2	1	6	3	1	2	6	3	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:29237611A>G	ENST00000313071.4	+	1	1325	c.1126A>G	c.(1126-1128)Acg>Gcg	p.T376A	FOXG1_ENST00000382535.3_Missense_Mutation_p.T376A	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	376					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCGTACGCCACGCACCACCT	0.677																																																	0													53	45	48					14																	29237611		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1126A>G	14.37:g.29237611A>G	ENSP00000339004:p.Thr376Ala		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T376A	ENST00000313071.4	37	c.1126	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609191	0.28623	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93547	-3.24;-3.24	4.21	4.21	0.49690	.	0.123358	0.52532	U	0.000064	D	0.87438	0.6177	N	0.24115	0.695	0.46437	D	0.999043	B	0.25521	0.128	B	0.22386	0.039	D	0.84540	0.0638	10	0.37606	T	0.19	.	13.5832	0.61915	1.0:0.0:0.0:0.0	.	376	P55316	FOXG1_HUMAN	A	376	ENSP00000371975:T376A;ENSP00000339004:T376A	ENSP00000339004:T376A	T	+	1	0	FOXG1	28307362	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.983000	0.63832	1.661000	0.50771	0.402000	0.26972	ACG	FOXG1	-	NULL	ENSG00000176165		0.677	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	34	0	A			29237611	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	34.62	34	18	SNP	1.000	G	G	29237611	A	G	29237611	3	3	5	1	0	0	0	0	1	0	0	0	6031	159	6	4	1128	4	FOXG1	14	29237611	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	4620140	29237611	78111929	139	1403											
HECTD1	25831	genome.wustl.edu	37	chr14	31581629	31581629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcttcttaccttgaggCgccaaatgctgtacatgtga	11	11	10	9	1	1	2	0	2	1	0	1	2	1	2	2	2	3	3	2	2	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:31581629C>T	ENST00000399332.1	-	35	6759	c.6271G>A	c.(6271-6273)Gcc>Acc	p.A2091T	HECTD1_ENST00000553700.1_Missense_Mutation_p.A2091T	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2091	K-box.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.A2091T(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACCTTGAGGCGCCAAATGCT	0.358																																																	1	Substitution - Missense(1)	prostate(1)											69	66	67					14																	31581629		1857	4091	5948	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6271G>A	14.37:g.31581629C>T	ENSP00000382269:p.Ala2091Thr		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.A2091T	ENST00000399332.1	37	c.6271	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968386	0.74131	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332	T;T	0.11821	2.74;2.74	5.86	5.86	0.93980	.	0.000000	0.64402	U	0.000001	T	0.11495	0.0280	L	0.33485	1.01	0.80722	D	1	P	0.47545	0.897	B	0.35240	0.198	T	0.14337	-1.0476	10	0.22109	T	0.4	-13.6828	20.1931	0.98233	0.0:1.0:0.0:0.0	.	2091	Q9ULT8	HECD1_HUMAN	T	2091;2093;2091	ENSP00000450697:A2091T;ENSP00000382269:A2091T	ENSP00000261312:A2093T	A	-	1	0	HECTD1	30651380	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.487000	0.81328	2.771000	0.95319	0.563000	0.77884	GCC	HECTD1	-	NULL	ENSG00000092148		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1		0	47	0	C			31581629	-1			no_errors	ENST00000399332	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	31581629	C	T	31581629	3	4	5	1	0	0	0	0	1	0	0	0	7066	768	27	1	1597	1	HECTD1	14	31581629	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2344018	31581629	75767911	140	1404											
DAAM1	23002	genome.wustl.edu	37	chr14	59835509	59835509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctaaattgaaacggaatCgcaaacgtattaccaaccag	16	10	6	9	3	1	1	0	1	1	0	2	2	1	2	2	1	4	2	2	1	8	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:59835509C>T	ENST00000395125.1	+	25	3192	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1057	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.R1057C(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAACGGAATCGCAAACGTAT	0.368																																																	1	Substitution - Missense(1)	skin(1)											111	106	108					14																	59835509		2203	4300	6503	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.3169C>T	14.37:g.59835509C>T	ENSP00000378557:p.Arg1057Cys		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.R1057C	ENST00000395125.1	37	c.3169	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502139	0.85176	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	D;D;D	0.82255	-1.59;-1.56;-1.56	5.64	5.64	0.86602	Actin-binding FH2/DRF autoregulatory (1);Diaphanous autoregulatory (1);	0.049990	0.85682	D	0.000000	D	0.90497	0.7023	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.90836	0.4720	10	0.87932	D	0	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	1047;1057	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	C	1047;1057;1057	ENSP00000354162:R1047C;ENSP00000247170:R1057C;ENSP00000378557:R1057C	ENSP00000247170:R1057C	R	+	1	0	DAAM1	58905262	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.770000	0.85390	2.664000	0.90586	0.655000	0.94253	CGC	DAAM1	-	smart_FH2_Formin	ENSG00000100592		0.368	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2	-	0	63	0	C	NM_014992		59835509	1	tier1	-	no_errors	ENST00000351081	ensembl	human	known	74_37	missense	46.67	32	28	SNP	1.000	T	T	59835509	C	T	59835509	3	4	5	1	0	0	0	0	1	0	0	0	4224	884	31	1	3267	1	DAAM1	14	59835509	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	28253880	59835509	47514031	141	1405											
YLPM1	56252	genome.wustl.edu	37	chr14	75248427	75248427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgccaccacctggcatgCccccacctgttatgccacct	7	8	7	19	0	0	0	0	0	0	0	0	0	0	0	8	1	3	2	8	1	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:75248427C>T	ENST00000552421.1	+	4	1805	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S	YLPM1_ENST00000325680.7_Missense_Mutation_p.P561S|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTGGCATGCCCCCACCTGT	0.612																																																	0													198	202	201					14																	75248427		2089	4195	6284	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1681C>T	14.37:g.75248427C>T	ENSP00000447921:p.Pro561Ser		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P561S	ENST00000552421.1	37	c.1681		14	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877378	0.51801	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	T	0.74107	0.3673	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.67090	-0.5758	8	0.20046	T	0.44	.	19.34	0.94337	0.0:1.0:0.0:0.0	.	561	P49750-4	.	S	561;561;274	.	ENSP00000324463:P561S	P	+	1	0	YLPM1	74318180	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.444000	0.60001	2.677000	0.91161	0.591000	0.81541	CCC	YLPM1	-	NULL	ENSG00000119596		0.612	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0	75	0	C	NM_019589		75248427	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	75248427	C	T	75248427	3	4	5	1	0	0	0	0	1	0	0	0	17535	739	26	3	1695	3	YLPM1	14	75248427	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	15412918	75248427	32101113	142	1406											
PTPN21	11099	genome.wustl.edu	37	chr14	89016715	89016715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactcttgctggacaccGtgtagcgccgggtgcgtttc	5	10	14	12	4	1	0	0	0	1	0	2	1	1	1	2	3	4	4	2	3	2	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:89016715G>A	ENST00000556564.1	-	2	331	c.47C>T	c.(46-48)aCg>aTg	p.T16M	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.T16M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	16					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTGGACACCGTGTAGCGCCG	0.532																																																	0													110	106	107					14																	89016715		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.47C>T	14.37:g.89016715G>A	ENSP00000452414:p.Thr16Met			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.T16M	ENST00000556564.1	37	c.47	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175264	0.78564	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;D	0.81499	-0.72;-0.72;-1.5	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.81616	0.4860	N	0.08118	0	0.46901	D	0.999247	D;D	0.89917	0.982;1.0	P;D	0.85130	0.707;0.997	D	0.85608	0.1256	10	0.62326	D	0.03	.	19.6662	0.95894	0.0:0.0:1.0:0.0	.	16;16	G3V3S6;Q16825	.;PTN21_HUMAN	M	16	ENSP00000330276:T16M;ENSP00000452414:T16M;ENSP00000451401:T16M	ENSP00000330276:T16M	T	-	2	0	PTPN21	88086468	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	6.259000	0.72494	2.649000	0.89929	0.561000	0.74099	ACG	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.532	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0	60	0	G			89016715	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A	A	89016715	G	A	89016715	3	1	5	1	0	0	0	0	1	0	0	0	12831	1145	40	1	3549	1	PTPN21	14	89016715	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	13768288	89016715	18332825	143	1407											
MOAP1	64112	genome.wustl.edu	37	chr14	93650312	93650312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtcagggggcttaaaGatcactctccagataccccc	9	9	10	13	0	4	2	2	0	2	2	5	2	4	2	3	3	1	1	3	3	3	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:93650312G>A	ENST00000556883.1	-	2	760	c.276C>T	c.(274-276)atC>atT	p.I92I	MOAP1_ENST00000298894.4_Silent_p.I92I|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	92					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ggggcttaaagatcactctcc	0.483																																																	0													94	99	98					14																	93650312		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.276C>T	14.37:g.93650312G>A			B2RDF6|Q9H833|Q9HAS1	Silent	SNP	NULL	p.I92	ENST00000556883.1	37	c.276	CCDS9908.1	14																																																																																			MOAP1	-	NULL	ENSG00000165943		0.483	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1	-	0	62	0	G			93650312	-1	tier1	-	no_errors	ENST00000298894	ensembl	human	known	74_37	silent	38.64	27	17	SNP	1.000	A	A	93650312	G	A	93650312	2	1	5	1	0	0	0	0	0	0	0	1	9718	932	33	3		3	MOAP1	14	93650312	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	4633597	93650312	13699228	144	1408											
AKT1	207	genome.wustl.edu	37	chr14	105242111	105242111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggccgtcagccacagTctggatggcggttgtccact	6	10	13	12	2	2	1	1	1	1	0	3	2	3	2	3	4	1	1	3	4	0	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr14:105242111T>C	ENST00000554581.1	-	4	1793	c.313A>G	c.(313-315)Act>Gct	p.T105A	AKT1_ENST00000554192.1_5'Flank|AKT1_ENST00000544168.1_Missense_Mutation_p.T43A|AKT1_ENST00000554585.1_5'Flank|AKT1_ENST00000402615.2_Missense_Mutation_p.T105A|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554848.1_Missense_Mutation_p.T105A|AKT1_ENST00000407796.2_Missense_Mutation_p.T105A|AKT1_ENST00000555528.1_Missense_Mutation_p.T105A|AKT1_ENST00000349310.3_Missense_Mutation_p.T105A			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	105	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCAGCCACAGTCTGGATGGCG	0.622		1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													112	75	87					14																	105242111		2203	4300	6503	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.313A>G	14.37:g.105242111T>C	ENSP00000451828:p.Thr105Ala		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.T105A	ENST00000554581.1	37	c.313	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	T	0.706	-0.788807	0.02884	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000544168;ENST00000554848;ENST00000555380	T;T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;0.99;-0.85;0.99	3.9	3.9	0.45041	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.280851	0.35291	N	0.003319	T	0.44329	0.1288	N	0.03016	-0.435	0.39959	D	0.974639	B	0.02656	0.0	B	0.04013	0.001	T	0.41734	-0.9492	10	0.07175	T	0.84	.	9.2654	0.37639	0.0:0.0:0.182:0.818	.	105	P31749	AKT1_HUMAN	A	105;105;105;105;105;43;105;43	ENSP00000451828:T105A;ENSP00000384293:T105A;ENSP00000270202:T105A;ENSP00000385326:T105A;ENSP00000450688:T105A;ENSP00000443897:T43A;ENSP00000451166:T105A;ENSP00000451290:T43A	ENSP00000270202:T105A	T	-	1	0	AKT1	104313156	1.000000	0.71417	0.979000	0.43373	0.598000	0.36846	3.488000	0.53229	1.626000	0.50381	0.368000	0.22195	ACT	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000142208		0.622	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	-	0	50	0	T	NM_005163		105242111	-1	tier1	-	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.997	C	C	105242111	T	C	105242111	3	2	5	1	0	0	0	0	1	0	0	0	478	1667	58	4	1169	4	AKT1	14	105242111	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	11591799	105242111	2107429	145	1409											
APBA2	321	genome.wustl.edu	37	chr15	29346720	29346720	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accggcgcctccccctaccgCctgaggcgtggggatgggga	5	5	16	15	4	0	1	0	1	0	0	1	3	1	3	6	6	1	0	6	6	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:29346720C>A	ENST00000558402.1	+	5	1232	c.633C>A	c.(631-633)cgC>cgA	p.R211R	APBA2_ENST00000558259.1_Silent_p.R211R|APBA2_ENST00000558330.1_Silent_p.R211R|APBA2_ENST00000561069.1_Silent_p.R211R|APBA2_ENST00000411764.1_Silent_p.R211R			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	211	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCCCCTACCGCCTGAGGCGTG	0.602																																																	0													44	34	37					15																	29346720		2201	4300	6501	SO:0001819	synonymous_variant	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.633C>A	15.37:g.29346720C>A			E9PGI4|O60571|Q5XKC0	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.R211	ENST00000558402.1	37	c.633	CCDS10022.1	15																																																																																			APBA2	-	NULL	ENSG00000034053		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	-	0	45	0	C	NM_005503		29346720	1	tier1	-	no_errors	ENST00000558259	ensembl	human	known	74_37	silent	22.22	42	12	SNP	0.029	A	A	29346720	C	A	29346720	2	1	5	1	0	0	0	0	0	0	0	1	757	726	26	3		3	APBA2	15	29346720	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		29346720	73184672	146	1410											
RYR3	6263	genome.wustl.edu	37	chr15	34102755	34102755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccagacctccctcatcGtggctgcactcaagaaaatg	11	8	7	15	1	2	2	2	0	0	2	5	2	4	2	4	1	1	2	4	1	3	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:34102755G>A	ENST00000389232.4	+	71	10172	c.10102G>A	c.(10102-10104)Gtg>Atg	p.V3368M	RYR3_ENST00000415757.3_Missense_Mutation_p.V3363M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3368					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCCCTCATCGTGGCTGCACT	0.502																																																	0													76	95	89					15																	34102755		1964	4153	6117	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10102G>A	15.37:g.34102755G>A	ENSP00000373884:p.Val3368Met		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V3368M	ENST00000389232.4	37	c.10102	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367218	0.82463	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.67523	-0.27	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.84846	2.72	0.58432	D	0.999991	D;D	0.71674	0.985;0.998	P;D	0.68192	0.599;0.956	D	0.86224	0.1633	10	0.87932	D	0	.	18.813	0.92065	0.0:0.0:1.0:0.0	.	3363;3368	Q15413-2;Q15413	.;RYR3_HUMAN	M	3368;3368;3363	ENSP00000373884:V3368M	ENSP00000354735:V3363M	V	+	1	0	RYR3	31890047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.765000	0.85310	2.667000	0.90743	0.561000	0.74099	GTG	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.502	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	38	0	G			34102755	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	34102755	G	A	34102755	3	1	5	1	0	0	0	0	1	0	0	0	13815	1145	40	1	10384	1	RYR3	15	34102755	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	4756035	34102755	68428637	147	1411											
INO80	54617	genome.wustl.edu	37	chr15	41289774	41289774	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcctccagctcgtgtgcTtaacaggaacacaaagatgt	12	9	9	11	1	0	1	0	0	0	1	3	2	2	2	2	1	4	2	2	1	3	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:41289774T>G	ENST00000361937.3	-	29	3947	c.3523A>C	c.(3523-3525)Agc>Cgc	p.S1175R	INO80_ENST00000401393.3_Missense_Mutation_p.S1175R|RP11-540O11.6_ENST00000561388.1_RNA|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1175	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCGTGTGCTTAACAGGAAC	0.398																																																	0													131	115	120					15																	41289774		2203	4300	6503	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3523A>C	15.37:g.41289774T>G	ENSP00000355205:p.Ser1175Arg		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1175R	ENST00000361937.3	37	c.3523	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	T	33	5.231659	0.95207	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	T;T	0.80033	-1.33;-1.33	5.35	5.35	0.76521	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96904	0.9662	10	0.87932	D	0	.	15.3428	0.74311	0.0:0.0:0.0:1.0	.	1175	Q9ULG1	INO80_HUMAN	R	1175	ENSP00000355205:S1175R;ENSP00000384686:S1175R	ENSP00000355205:S1175R	S	-	1	0	INO80	39077066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.785000	0.85724	2.008000	0.58898	0.533000	0.62120	AGC	INO80	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000128908		0.398	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	-	0	75	0	T	NM_017553		41289774	-1	tier1	-	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	37.93	35	22	SNP	1.000	G	G	41289774	T	G	41289774	3	3	5	1	0	0	0	0	1	0	0	0	7773	1609	56	4	1179	4	INO80	15	41289774	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	7187019	41289774	61241618	148	1412											
SECISBP2L	9728	genome.wustl.edu	37	chr15	49293250	49293250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcttggagaagaagaGtcacacattcatcaatctct	14	10	7	10	0	5	3	3	0	2	3	6	4	5	3	0	1	1	1	0	1	4	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:49293250G>A	ENST00000559471.1	-	15	2335	c.2072C>T	c.(2071-2073)aCt>aTt	p.T691I	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.T646I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	691							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GAGAAGAAGAGTCACACATTC	0.373																																																	0													90	78	82					15																	49293250		2197	4295	6492	SO:0001583	missense	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2072C>T	15.37:g.49293250G>A	ENSP00000453854:p.Thr691Ile		Q8N767	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.T691I	ENST00000559471.1	37	c.2072	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808940	0.70797	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.74737	-0.87	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.78637	2.42	0.80722	D	1	P;D	0.59767	0.675;0.986	B;P	0.56088	0.091;0.791	D	0.86425	0.1757	10	0.72032	D	0.01	.	18.8493	0.92220	0.0:0.0:1.0:0.0	.	691;646	Q93073;Q93073-2	SBP2L_HUMAN;.	I	646;691	ENSP00000261847:T646I	ENSP00000261847:T646I	T	-	2	0	SECISBP2L	47080542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.394000	0.97261	2.527000	0.85204	0.563000	0.77884	ACT	SECISBP2L	-	NULL	ENSG00000138593		0.373	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	-	0	66	0	G	NM_014701		49293250	-1	tier1	-	no_errors	ENST00000559471	ensembl	human	known	74_37	missense	41.56	45	32	SNP	1.000	A	A	49293250	G	A	49293250	3	1	5	1	0	0	0	0	1	0	0	0	14052	1029	36	3	1249	3	SECISBP2L	15	49293250	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	8003476	49293250	53238142	149	1413											
PRTG	283659	genome.wustl.edu	37	chr15	56032808	56032808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcctggcaatctaaaaCgactgggtcctttcttgtga	9	12	11	9	1	2	2	0	2	2	0	3	3	3	2	2	2	2	1	2	2	3	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:56032808C>T	ENST00000561292.1	-	2	327	c.169G>A	c.(169-171)Gtt>Att	p.V57I	PRTG_ENST00000389286.4_Missense_Mutation_p.V57I					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAATCTAAAACGACTGGGTCC	0.408																																																	0													106	101	103					15																	56032808		1837	4086	5923	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.169G>A	15.37:g.56032808C>T	ENSP00000453335:p.Val57Ile			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V57I	ENST00000561292.1	37	c.169		15	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310839	0.23821	.	.	ENSG00000166450	ENST00000389286	T	0.66995	-0.24	5.82	-7.42	0.01388	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.486738	0.17967	N	0.155972	T	0.33352	0.0860	N	0.14661	0.345	0.26128	N	0.980459	B	0.22541	0.071	B	0.17098	0.017	T	0.20207	-1.0282	10	0.21014	T	0.42	-0.107	2.3199	0.04207	0.1626:0.3385:0.0908:0.4081	.	57	Q2VWP7	PRTG_HUMAN	I	57	ENSP00000373937:V57I	ENSP00000373937:V57I	V	-	1	0	PRTG	53820100	0.000000	0.05858	0.017000	0.16124	0.996000	0.88848	-1.381000	0.02549	-2.107000	0.00840	-0.140000	0.14226	GTT	PRTG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000166450		0.408	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419360.1	-	0	72	0	C	NM_173814		56032808	-1	tier1	-	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	7.87	82	7	SNP	0.317	T	T	56032808	C	T	56032808	3	4	5	1	0	0	0	0	1	0	0	0	12680	536	19	1	3359	1	PRTG	15	56032808	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	6739558	56032808	46498584	150	1414											
TLN2	83660	genome.wustl.edu	37	chr15	63063221	63063221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgcagttggtgtggcctCcaagattcttgatcatcagc	8	11	11	11	1	3	2	2	1	1	1	4	2	4	2	3	2	2	2	3	2	1	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:63063221C>A	ENST00000561311.1	+	41	5485	c.5255C>A	c.(5254-5256)tCc>tAc	p.S1752Y	TLN2_ENST00000306829.6_Missense_Mutation_p.S1752Y|TLN2_ENST00000472902.1_Missense_Mutation_p.S145Y			Q9Y4G6	TLN2_HUMAN	talin 2	1752					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGTGTGGCCTCCAAGATTCTT	0.463																																																	0													126	117	120					15																	63063221		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5255C>A	15.37:g.63063221C>A	ENSP00000453508:p.Ser1752Tyr		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.S1752Y	ENST00000561311.1	37	c.5255	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776755	0.90195	.	.	ENSG00000171914	ENST00000306829	T	0.14144	2.53	5.39	5.39	0.77823	.	0.046197	0.85682	D	0.000000	T	0.44829	0.1312	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.81914	0.995;0.943	T	0.46803	-0.9165	10	0.87932	D	0	-19.0671	19.3562	0.94414	0.0:1.0:0.0:0.0	.	796;1752	G1UI21;Q9Y4G6	.;TLN2_HUMAN	Y	1752	ENSP00000303476:S1752Y	ENSP00000303476:S1752Y	S	+	2	0	TLN2	60850513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.609000	0.82925	2.804000	0.96469	0.655000	0.94253	TCC	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.463	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	40	0	C			63063221	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	A	A	63063221	C	A	63063221	3	1	5	1	0	0	0	0	1	0	0	0	15995	855	30	3	5409	3	TLN2	15	63063221	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	7030413	63063221	39468171	151	1415											
HERC1	8925	genome.wustl.edu	37	chr15	63918207	63918207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttggggctaaggttcaGcagtctccaggatgagtaca	9	11	14	7	0	2	1	1	1	1	0	3	2	2	2	1	4	2	6	1	4	2	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:63918207G>A	ENST00000443617.2	-	71	13339	c.13252C>T	c.(13252-13254)Ctg>Ttg	p.L4418L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4418					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTAAGGTTCAGCAGTCTCCAG	0.597																																																	0													63	65	64					15																	63918207		2071	4203	6274	SO:0001819	synonymous_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13252C>T	15.37:g.63918207G>A			Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.L4418	ENST00000443617.2	37	c.13252	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.597	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	27	0	G	NM_003922		63918207	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.999	A	A	63918207	G	A	63918207	2	1	5	1	0	0	0	0	0	0	0	1	7084	962	34	3		3	HERC1	15	63918207	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	854986	63918207	38613185	152	1416											
TBC1D2B	23102	genome.wustl.edu	37	chr15	78317742	78317742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagggtcaccactgctGtgacgatttttgtacgaccc	8	12	10	11	2	1	2	1	2	0	0	1	4	1	2	2	1	2	2	2	1	2	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:78317742G>T	ENST00000300584.3	-	5	944	c.945C>A	c.(943-945)caC>caA	p.H315Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.H315Q	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	315							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CACCACTGCTGTGACGATTTT	0.522																																																	0													114	100	105					15																	78317742		2196	4293	6489	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.945C>A	15.37:g.78317742G>T	ENSP00000300584:p.His315Gln		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.H315Q	ENST00000300584.3	37	c.945	CCDS45314.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.035|9.035	0.988206|0.988206	0.18966|0.18966	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584;ENST00000435468|ENST00000418039	T;T|.	0.07688|.	3.17;3.17|.	5.61|5.61	2.57|2.57	0.30868|0.30868	.|.	0.357975|.	0.34200|.	N|.	0.004175|.	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.41236|0.41236	1.265|1.265	0.30034|0.30034	N|N	0.813195|0.813195	P;B|.	0.37276|.	0.589;0.309|.	B;B|.	0.32864|.	0.154;0.073|.	T|T	0.32693|0.32693	-0.9897|-0.9897	10|5	0.59425|.	D|.	0.04|.	.|.	8.4465|8.4465	0.32845|0.32845	0.126:0.1642:0.7098:0.0|0.126:0.1642:0.7098:0.0	.|.	315;315|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	Q|K	315;315;203|197	ENSP00000387165:H315Q;ENSP00000300584:H315Q|.	ENSP00000300584:H315Q|.	H|T	-|-	3|2	2|0	TBC1D2B|TBC1D2B	76104797|76104797	1.000000|1.000000	0.71417|0.71417	0.617000|0.617000	0.29091|0.29091	0.329000|0.329000	0.28539|0.28539	1.043000|1.043000	0.30316|0.30316	1.258000|1.258000	0.44101|0.44101	0.555000|0.555000	0.69702|0.69702	CAC|ACA	TBC1D2B	-	NULL	ENSG00000167202		0.522	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	-	0	64	0	G	NM_015079		78317742	-1	tier1	-	no_errors	ENST00000300584	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.728	T	T	78317742	G	T	78317742	3	4	5	1	0	0	0	0	1	0	0	0	15666	1368	48	3	1982	3	TBC1D2B	15	78317742	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	14399535	78317742	24213650	153	1417											
ADAMTS7	11173	genome.wustl.edu	37	chr15	79082078	79082078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccagcggcaggcccgtGtcctcgttgatgctgcagct	6	8	14	13	3	0	1	0	1	0	0	2	1	1	1	3	3	4	5	3	3	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:79082078G>T	ENST00000388820.4	-	7	1341	c.1131C>A	c.(1129-1131)gaC>gaA	p.D377E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	377	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGGCCCGTGTCCTCGTTGA	0.657																																																	0													31	28	29					15																	79082078		2196	4291	6487	SO:0001583	missense	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1131C>A	15.37:g.79082078G>T	ENSP00000373472:p.Asp377Glu		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D377E	ENST00000388820.4	37	c.1131	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831159	0.71258	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	D	0.89196	-2.48	4.99	4.06	0.47325	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93158	0.7821	M	0.84082	2.675	0.48511	D	0.999663	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.985	D	0.91419	0.5157	10	0.40728	T	0.16	.	7.069	0.25167	0.2078:0.0:0.7922:0.0	.	377;377;377	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	E	377	ENSP00000373472:D377E	ENSP00000373472:D377E	D	-	3	2	ADAMTS7	76869133	1.000000	0.71417	0.995000	0.50966	0.527000	0.34593	3.909000	0.56363	1.055000	0.40461	0.591000	0.81541	GAC	ADAMTS7	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000136378		0.657	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	-	0	96	0	G	NM_014272		79082078	-1	tier1	-	no_errors	ENST00000388820	ensembl	human	known	74_37	missense	45.54	61	51	SNP	1.000	T	T	79082078	G	T	79082078	3	4	5	1	0	0	0	0	1	0	0	0	271	1368	48	3	4001	3	ADAMTS7	15	79082078	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	764336	79082078	23449314	154	1418											
AKAP13	11214	genome.wustl.edu	37	chr15	86028968	86028968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgaaacttaatccacAgcaagctcccttatatgtga	13	11	7	10	0	1	2	1	2	0	0	3	2	3	2	2	1	3	2	2	1	5	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:86028968A>T	ENST00000394518.2	+	2	112	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q6L|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q6L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	6					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTAATCCACAGCAAGCTCCC	0.333																																					Melanoma(94;603 1453 3280 32295 32951)												0													157	141	146					15																	86028968		2203	4299	6502	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.17A>T	15.37:g.86028968A>T	ENSP00000378026:p.Gln6Leu		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q6L	ENST00000394518.2	37	c.17	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	A	9.492	1.100850	0.20552	.	.	ENSG00000170776	ENST00000361243;ENST00000394518	T;T	0.60672	0.17;0.17	5.35	4.2	0.49525	.	.	.	.	.	T	0.64394	0.2594	L	0.50333	1.59	0.80722	D	1	D;D;B	0.61697	0.983;0.99;0.178	P;P;B	0.59487	0.725;0.858;0.053	T	0.65483	-0.6157	9	0.72032	D	0.01	.	9.5159	0.39104	0.822:0.178:0.0:0.0	.	6;6;6	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	L	6	ENSP00000354718:Q6L;ENSP00000378026:Q6L	ENSP00000354718:Q6L	Q	+	2	0	AKAP13	83829972	1.000000	0.71417	0.868000	0.34077	0.921000	0.55340	5.268000	0.65536	0.958000	0.37956	0.529000	0.55759	CAG	AKAP13	-	NULL	ENSG00000170776		0.333	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1		0	52	0	A	NM_007200		86028968	1			no_errors	ENST00000361243	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.959	T	T	86028968	A	T	86028968	3	4	5	1	0	0	0	0	1	0	0	0	449	188	7	5	19	5	AKAP13	15	86028968	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	6946890	86028968	16502424	155	1419											
ZNF710	374655	genome.wustl.edu	37	chr15	90610668	90610668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacccggcggaagacgcGgccacctgtgcggttggtgc	6	5	16	14	5	0	1	0	0	0	1	0	2	0	2	3	5	2	2	3	5	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr15:90610668G>A	ENST00000268154.4	+	2	550	c.299G>A	c.(298-300)cGg>cAg	p.R100Q		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			CGGAAGACGCGGCCACCTGTG	0.637																																																	0													62	58	59					15																	90610668		2199	4297	6496	SO:0001583	missense	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.299G>A	15.37:g.90610668G>A	ENSP00000268154:p.Arg100Gln		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R100Q	ENST00000268154.4	37	c.299	CCDS10358.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040514	0.75732	.	.	ENSG00000140548	ENST00000268154	T	0.14391	2.51	5.13	5.13	0.70059	.	2.268360	0.02093	N	0.053272	T	0.14056	0.0340	N	0.19112	0.55	0.40772	D	0.983099	B	0.30439	0.279	B	0.17979	0.02	T	0.22173	-1.0224	10	0.51188	T	0.08	-27.348	17.33	0.87259	0.0:0.0:1.0:0.0	.	100	Q8N1W2	ZN710_HUMAN	Q	100	ENSP00000268154:R100Q	ENSP00000268154:R100Q	R	+	2	0	ZNF710	88411672	0.995000	0.38212	0.982000	0.44146	0.913000	0.54294	3.092000	0.50207	2.681000	0.91329	0.462000	0.41574	CGG	ZNF710	-	NULL	ENSG00000140548		0.637	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	-	0	137	0	G	NM_198526		90610668	1	tier1	-	no_errors	ENST00000268154	ensembl	human	known	74_37	missense	35.00	130	70	SNP	0.992	A	A	90610668	G	A	90610668	3	1	5	1	0	0	0	0	1	0	0	0	18163	1116	39	1	301	1	ZNF710	15	90610668	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	4581700	90610668	11920724	156	1420											
CCDC64B	146439	genome.wustl.edu	37	chr16	3085278	3085278	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgcagctcttcatttcGctccagaagcatcttgccga	7	10	8	16	4	3	1	1	0	2	1	5	2	4	1	4	0	3	4	4	0	1	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:3085278G>A	ENST00000572449.1	-	2	282	c.220C>T	c.(220-222)Cga>Tga	p.R74*	CCDC64B_ENST00000573514.1_5'Flank|CCDC64B_ENST00000389347.4_Nonsense_Mutation_p.R74*|RP11-473M20.5_ENST00000382225.3_RNA			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	74										breast(1)|endometrium(2)|large_intestine(1)	4						TCTTCATTTCGCTCCAGAAGC	0.657																																																	0													6	7	7					16																	3085278		1856	3993	5849	SO:0001587	stop_gained	0			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.220C>T	16.37:g.3085278G>A	ENSP00000459043:p.Arg74*		Q658L9	Nonsense_Mutation	SNP	superfamily_Sig_transdc_His_kinase_dimeric	p.R74*	ENST00000572449.1	37	c.220	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	g	36	5.715804	0.96830	.	.	ENSG00000162069	ENST00000389347	.	.	.	5.08	4.1	0.47936	.	0.138033	0.48286	D	0.000182	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0642	10.4977	0.44788	0.0:0.0:0.6474:0.3526	.	.	.	.	X	74	.	ENSP00000373998:R74X	R	-	1	2	CCDC64B	3025279	0.983000	0.35010	1.000000	0.80357	0.924000	0.55760	2.401000	0.44513	1.092000	0.41356	0.457000	0.33378	CGA	CCDC64B	-	NULL	ENSG00000162069		0.657	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	-	0	41	0	G			3085278	-1	tier1	-	no_errors	ENST00000389347	ensembl	human	known	74_37	nonsense	75.00	3	9	SNP	1.000	A	A	3085278	G	A	3085278	4	1	5	1	0	0	0	0	0	1	0	0	2843	1095	38	1	1342	1	CCDC64B	16	3085278	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		3085278	87269475	157	1421											
ACSM2B	348158	genome.wustl.edu	37	chr16	20548600	20548600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcgcacgggcttttcCggacatcttccactccttgt	5	13	8	15	3	2	0	1	0	1	0	5	1	5	1	3	2	1	2	3	2	0	4	rs562863484	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:20548600C>T	ENST00000329697.6	-	14	1882	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	ACSM2B_ENST00000565232.1_Missense_Mutation_p.G572R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G493R|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G572R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	572					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGCTTTTCCGGACATCTTC	0.458													c|||	2	0.000399361	0	0	5008	,	,		18718	0.002		0	False		,,,				2504	0																0													256	235	242					16																	20548600		2202	4300	6502	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1714G>A	16.37:g.20548600C>T	ENSP00000327453:p.Gly572Arg		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G572R	ENST00000329697.6	37	c.1714	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444647	0.12164	.	.	ENSG00000066813	ENST00000329697	T	0.44482	0.92	2.53	-1.41	0.08941	.	1.211330	0.06520	N	0.739421	T	0.23094	0.0558	N	0.17474	0.49	0.09310	N	1	B	0.23185	0.081	B	0.17722	0.019	T	0.22941	-1.0202	10	0.12103	T	0.63	-1.2015	7.8631	0.29522	0.0:0.3288:0.0:0.6712	.	572	Q68CK6	ACS2B_HUMAN	R	572	ENSP00000327453:G572R	ENSP00000327453:G572R	G	-	1	0	ACSM2B	20456101	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	-0.141000	0.10327	-0.307000	0.08804	-0.874000	0.02982	GGA	ACSM2B	-	NULL	ENSG00000066813		0.458	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0	143	0	C	NM_182617		20548600	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	25.62	151	52	SNP	0.000	T	T	20548600	C	T	20548600	3	4	5	1	0	0	0	0	1	0	0	0	184	661	23	1	23	1	ACSM2B	16	20548600	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	17463322	20548600	69806153	158	1422											
CHD9	80205	genome.wustl.edu	37	chr16	53243679	53243679	+	Frame_Shift_Del	DEL	A	A	-																															agccaaaggacaaagacagcAaaaaaacaaaaacatgttct																										TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:53243679delA	ENST00000398510.3	+	2	1825	c.1738delA	c.(1738-1740)aaafs	p.K581fs	CHD9_ENST00000447540.1_Frame_Shift_Del_p.K581fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.K581fs|CHD9_ENST00000566029.1_Frame_Shift_Del_p.K581fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	581	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAAGACAGCAAAAAAACAAA	0.328																																																	0													31	30	30					16																	53243679		1814	4081	5895	SO:0001589	frameshift_variant	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1738delA	16.37:g.53243679delA	ENSP00000381522:p.Lys581fs		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.T582fs	ENST00000398510.3	37	c.1738		16																																																																																			CHD9	-	NULL	ENSG00000177200		0.328	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0	19	0	A	NM_025134		53243679	1	tier1		no_errors	ENST00000398510	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	53243679	A	-	53243679	7	5	5	1	0	1	0	1	0	0	0	0	3339	131	5	0	1744	0	CHD9	16	53243679	Frame_Shift_Del	DEL	A	TCGA-2H-A9GJ-01A-11D-A37C-09	32695079	53243679	37111074	159	1423											
RBL2	5934	genome.wustl.edu	37	chr16	53504680	53504680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccatttagcagctgtccGccttcgggatctctgtgcca	7	12	9	13	2	1	0	0	0	1	0	4	1	2	1	4	1	4	2	4	1	2	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:53504680G>A	ENST00000262133.6	+	17	2686	c.2549G>A	c.(2548-2550)cGc>cAc	p.R850H	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	850	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCAGCTGTCCGCCTTCGGGAT	0.373																																																	0													127	135	132					16																	53504680		2198	4300	6498	SO:0001583	missense	0			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2549G>A	16.37:g.53504680G>A	ENSP00000262133:p.Arg850His		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R850H	ENST00000262133.6	37	c.2549	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841201	0.71488	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.95412	-3.7	5.98	5.98	0.97165	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	D	0.98514	1.0620	10	0.87932	D	0	-9.8332	20.0685	0.97708	0.0:0.0:1.0:0.0	.	560;850	E9PG04;Q08999	.;RBL2_HUMAN	H	850;560	ENSP00000262133:R850H	ENSP00000262133:R850H	R	+	2	0	RBL2	52062181	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	9.582000	0.98214	2.835000	0.97688	0.650000	0.86243	CGC	RBL2	-	pfam_RB_B,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000103479		0.373	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	-	0	67	0	G	NM_005611		53504680	1	tier1	-	no_errors	ENST00000262133	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	A	A	53504680	G	A	53504680	3	1	5	1	0	0	0	0	1	0	0	0	13155	1087	38	1	2615	1	RBL2	16	53504680	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	261001	53504680	36850073	160	1424											
ZFP90	146198	genome.wustl.edu	37	chr16	68598300	68598300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagaagcctttagtcgacGctcatcgcttactcaacatg	10	11	9	11	3	2	1	2	0	0	1	4	3	2	1	1	1	3	2	1	1	4	3	rs369659817	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:68598300G>T	ENST00000570495.1	+	5	1902	c.1610G>T	c.(1609-1611)cGc>cTc	p.R537L	ZFP90_ENST00000563169.2_Missense_Mutation_p.R537L|ZFP90_ENST00000398253.2_Missense_Mutation_p.R537L			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	537					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTTAGTCGACGCTCATCGCTT	0.413																																																	0													62	70	67					16																	68598300		2196	4300	6496	SO:0001583	missense	0			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1610G>T	16.37:g.68598300G>T	ENSP00000460547:p.Arg537Leu		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R537L	ENST00000570495.1	37	c.1610	CCDS42183.1	16	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270150	0.23221	.	.	ENSG00000184939	ENST00000398253	T	0.08282	3.11	5.95	2.6	0.31112	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.25031	0.7	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.41734	-0.9492	9	0.26408	T	0.33	-2.6836	3.4768	0.07587	0.0814:0.1521:0.4523:0.3141	.	537	Q8TF47	ZFP90_HUMAN	L	537	ENSP00000381304:R537L	ENSP00000381304:R537L	R	+	2	0	ZFP90	67155801	0.000000	0.05858	0.998000	0.56505	0.928000	0.56348	0.040000	0.13905	0.758000	0.33059	0.561000	0.74099	CGC	ZFP90	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184939		0.413	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	-	0	57	0	G	XM_085375		68598300	1	tier1	-	no_errors	ENST00000398253	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.001	T	T	68598300	G	T	68598300	3	4	5	1	0	0	0	0	1	0	0	0	17702	1087	38	2	1624	2	ZFP90	16	68598300	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	15093620	68598300	21756453	161	1425											
WDR59	79726	genome.wustl.edu	37	chr16	74943477	74943477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgacccgtaagccgtggtcaCccgcgcaaacgtcggtaagg	9	5	13	14	7	1	0	1	0	0	0	2	1	1	0	3	3	2	3	3	3	3	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:74943477C>T	ENST00000262144.6	-	16	1694	c.1564G>A	c.(1564-1566)Gtg>Atg	p.V522M		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	522										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCCGTGGTCACCCGCGCAAAC	0.552																																																	0													91	97	95					16																	74943477		2198	4300	6498	SO:0001583	missense	0			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1564G>A	16.37:g.74943477C>T	ENSP00000262144:p.Val522Met		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V522M	ENST00000262144.6	37	c.1564	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850878	0.71719	.	.	ENSG00000103091	ENST00000262144	T	0.68025	-0.3	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.76523	-0.2928	10	0.46703	T	0.11	-20.836	20.1581	0.98126	0.0:1.0:0.0:0.0	.	522	Q6PJI9	WDR59_HUMAN	M	522	ENSP00000262144:V522M	ENSP00000262144:V522M	V	-	1	0	WDR59	73500978	1.000000	0.71417	0.994000	0.49952	0.016000	0.09150	7.052000	0.76634	2.937000	0.99478	0.650000	0.86243	GTG	WDR59	-	NULL	ENSG00000103091		0.552	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	-	0	29	0	C	NM_030581		74943477	-1	tier1	-	no_errors	ENST00000262144	ensembl	human	known	74_37	missense	67.44	13	29	SNP	1.000	T	T	74943477	C	T	74943477	3	4	5	1	0	0	0	0	1	0	0	0	17357	507	18	3	1404	3	WDR59	16	74943477	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	6345177	74943477	15411276	162	1426											
PRDM7	11105	genome.wustl.edu	37	chr16	90142261	90142261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttctcaccatgggcttccGctctgttctctctgtgtctc	3	16	7	15	1	5	0	1	0	5	0	9	0	6	0	2	1	0	3	2	1	0	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr16:90142261G>A	ENST00000449207.2	-	1	77	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	PRDM7_ENST00000569206.1_Intron|PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	20					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ATGGGCTTCCGCTCTGTTCTC	0.587																																																	0													67	74	72					16																	90142261		1937	4135	6072	SO:0001583	missense	0			AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"Zinc fingers, C2H2-type", "-"	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.58C>T	16.37:g.90142261G>A	ENSP00000396732:p.Arg20Trp		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_SET_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R20W	ENST00000449207.2	37	c.58	CCDS45557.1	16	.	.	.	.	.	.	.	.	.	.	.	3.555	-0.090941	0.07053	.	.	ENSG00000126856	ENST00000449207;ENST00000414728	T	0.11712	2.75	1.39	-2.78	0.05859	Krueppel-associated box (1);	.	.	.	.	T	0.02571	0.0078	N	0.01705	-0.755	0.09310	N	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.40515	-0.9559	8	.	.	.	.	0.0715	0.00023	0.2985:0.2429:0.2163:0.2423	.	20	Q9NQW5	PRDM7_HUMAN	W	20	ENSP00000396732:R20W	.	R	-	1	2	PRDM7	88669762	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.335000	0.02662	-1.281000	0.02399	-0.350000	0.07774	CGG	PRDM7	-	superfamily_Krueppel-associated_box	ENSG00000126856		0.587	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM7	HGNC	protein_coding	OTTHUMT00000420560.1		0	65	0	G			90142261	-1			no_errors	ENST00000449207	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	A	A	90142261	G	A	90142261	3	1	5	1	0	0	0	0	1	0	0	0	12503	1086	38	1	1460	1	PRDM7	16	90142261	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	15198784	90142261	212492	163	1427											
SERPINF2	5345	genome.wustl.edu	37	chr17	1650412	1650412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcctctgccaggacctggGccccggcgcgttccgactgg	3	6	14	18	5	1	0	0	0	1	0	2	2	2	1	7	4	1	1	7	4	0	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:1650412G>T	ENST00000324015.3	+	6	544	c.467G>T	c.(466-468)gGc>gTc	p.G156V	SERPINF2_ENST00000382061.4_Missense_Mutation_p.G156V|SERPINF2_ENST00000450523.2_Missense_Mutation_p.G92V	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	156					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	CAGGACCTGGGCCCCGGCGCG	0.672																																																	0													17	19	18					17																	1650412		2197	4278	6475	SO:0001583	missense	0			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.467G>T	17.37:g.1650412G>T	ENSP00000321853:p.Gly156Val		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G156V	ENST00000324015.3	37	c.467	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079861	0.36662	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000450523;ENST00000423861;ENST00000382061	D;T;T;T	0.84660	-1.88;1.19;1.19;1.19	5.36	4.37	0.52481	Serpin domain (3);	0.443997	0.25698	N	0.028890	D	0.83376	0.5241	L	0.59436	1.845	0.51767	D	0.999938	P;P	0.52061	0.95;0.868	P;B	0.45610	0.487;0.431	T	0.83001	-0.0177	10	0.51188	T	0.08	.	10.3843	0.44129	0.0921:0.0:0.9079:0.0	.	92;156	B4E1B7;P08697	.;A2AP_HUMAN	V	156;156;92;92;156	ENSP00000402286:G156V;ENSP00000321853:G156V;ENSP00000403877:G92V;ENSP00000371493:G156V	ENSP00000321853:G156V	G	+	2	0	SERPINF2	1597162	0.995000	0.38212	0.967000	0.41034	0.038000	0.13279	2.367000	0.44213	1.244000	0.43870	0.561000	0.74099	GGC	SERPINF2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000167711		0.672	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3		0	83	0	G	NM_000934		1650412	1			no_errors	ENST00000324015	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.997	T	T	1650412	G	T	1650412	3	4	5	1	0	0	0	0	1	0	0	0	14160	1203	42	3	495	3	SERPINF2	17	1650412	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		1650412	79544798	164	1428											
TP53	7157	genome.wustl.edu	37	chr17	7578517	7578517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcacagggcaggtcttgGccagttggcaaaacatcttg	9	9	13	10	0	2	0	0	0	2	0	2	0	2	0	1	4	2	5	1	4	2	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:7578517G>A	ENST00000269305.4	-	5	602	c.413C>T	c.(412-414)gCc>gTc	p.A138V	TP53_ENST00000420246.2_Missense_Mutation_p.A138V|TP53_ENST00000413465.2_Missense_Mutation_p.A138V|TP53_ENST00000445888.2_Missense_Mutation_p.A138V|TP53_ENST00000359597.4_Missense_Mutation_p.A138V|TP53_ENST00000455263.2_Missense_Mutation_p.A138V|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	138	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A138V(20)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.A138fs*31(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.V73fs*9(1)|p.K132_A138delKMFCQLA(1)|p.A138_V143delAKTCPV(1)|p.A6_P10delAKTCP(1)|p.C3fs*9(1)|p.A138del(1)|p.C42fs*9(1)|p.A6V(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.A45V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGGTCTTGGCCAGTTGGCA	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	54	Substitution - Missense(22)|Deletion - In frame(13)|Deletion - Frameshift(10)|Whole gene deletion(8)|Complex - deletion inframe(1)	large_intestine(9)|ovary(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(6)|breast(6)|stomach(4)|lung(4)|bone(4)|central_nervous_system(3)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|liver(1)											54	54	54					17																	7578517		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.413C>T	17.37:g.7578517G>A	ENSP00000269305:p.Ala138Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.A138V	ENST00000269305.4	37	c.413	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067507	0.76301	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.70595	2.14	0.58432	D	0.999998	P;P;D;P;D;D;D	0.89917	0.821;0.952;0.981;0.886;0.984;0.98;1.0	P;P;P;B;P;P;D	0.91635	0.528;0.716;0.646;0.328;0.813;0.771;0.999	D	0.96765	0.9564	10	0.87932	D	0	-15.6629	17.2272	0.86973	0.0:0.0:1.0:0.0	.	99;138;138;45;138;138;138	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	138;138;138;138;138;138;127;45;6;45;6;138	ENSP00000410739:A138V;ENSP00000352610:A138V;ENSP00000269305:A138V;ENSP00000398846:A138V;ENSP00000391127:A138V;ENSP00000391478:A138V;ENSP00000425104:A6V;ENSP00000423862:A45V;ENSP00000424104:A138V	ENSP00000269305:A138V	A	-	2	0	TP53	7519242	1.000000	0.71417	0.989000	0.46669	0.377000	0.30045	5.601000	0.67606	2.733000	0.93635	0.655000	0.94253	GCC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	55	0	G	NM_000546		7578517	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	75.00	11	33	SNP	1.000	A	A	7578517	G	A	7578517	3	1	5	1	0	0	0	0	1	0	0	0	16429	1203	42	3	885	3	TP53	17	7578517	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	5928105	7578517	73616693	165	1429											
C17orf39	79018	genome.wustl.edu	37	chr17	17962265	17962265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaagaatggagactaCgtcttcatgaggtggaaggt	12	9	15	5	1	2	4	1	2	1	2	2	7	2	5	0	4	2	1	0	4	4	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:17962265C>T	ENST00000268719.4	+	4	863	c.690C>T	c.(688-690)taC>taT	p.Y230Y		NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	230								p.Y230Y(1)									ATGGAGACTACGTCTTCATGA	0.463																																																	1	Substitution - coding silent(1)	ovary(1)											74	67	70					17																	17962265		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"vacuolar import and degradation 24"		"chromosome 17 open reading frame 39", "GID complex subunit 4, VID24 homolog (S. cerevisiae)"	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.690C>T	17.37:g.17962265C>T			Q8TEB5|Q9BW50	Silent	SNP	pfam_Vacuolar_import/degrad_Vid24	p.Y230	ENST00000268719.4	37	c.690	CCDS11190.1	17																																																																																			GID4	-	pfam_Vacuolar_import/degrad_Vid24	ENSG00000141034		0.463	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID4	HGNC	protein_coding	OTTHUMT00000132071.2		0	34	0	C	NM_024052		17962265	1			no_errors	ENST00000268719	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.996	T	T	17962265	C	T	17962265	2	4	5	1	0	0	0	0	0	0	0	1	1861	547	19	1		1	C17orf39	17	17962265	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	10383748	17962265	63232945	166	1430											
CCT6B	10693	genome.wustl.edu	37	chr17	33281609	33281609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttcagctattattctagGgtgcaggccctgttacatca	8	14	8	11	0	3	0	2	0	1	0	4	0	4	0	2	2	3	3	2	2	4	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:33281609G>T	ENST00000314144.5	-	4	461	c.346C>A	c.(346-348)Cct>Act	p.P116T	CCT6B_ENST00000421975.3_Missense_Mutation_p.P116T|CCT6B_ENST00000436961.3_Missense_Mutation_p.P71T	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	116					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ATTATTCTAGGGTGCAGGCCC	0.318																																																	0													79	74	76					17																	33281609		2203	4300	6503	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.346C>A	17.37:g.33281609G>T	ENSP00000327191:p.Pro116Thr		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.P116T	ENST00000314144.5	37	c.346	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717199	0.48622	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.25085	1.82;1.82;1.82	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	H	0.97564	4.03	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.999	D;D;D	0.80764	0.988;0.994;0.986	T	0.78760	-0.2078	10	0.87932	D	0	-16.4864	16.2065	0.82133	0.0:0.0:1.0:0.0	.	71;116;116	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	T	116;116;71	ENSP00000398044:P116T;ENSP00000327191:P116T;ENSP00000400917:P71T	ENSP00000327191:P116T	P	-	1	0	CCT6B	30305722	1.000000	0.71417	0.930000	0.37139	0.033000	0.12548	8.960000	0.93117	2.770000	0.95276	0.557000	0.71058	CCT	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.318	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	-	0	70	0	G	NM_006584		33281609	-1	tier1	-	no_errors	ENST00000314144	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.949	T	T	33281609	G	T	33281609	3	4	5	1	0	0	0	0	1	0	0	0	2965	1232	43	3	1290	3	CCT6B	17	33281609	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	15319344	33281609	47913601	167	1431											
WIPF2	147179	genome.wustl.edu	37	chr17	38421089	38421089	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaaaggcttcaccctggtCgagagggacctcctgctcca	9	7	11	14	1	1	1	1	0	0	1	4	4	3	2	4	3	1	2	4	3	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:38421089C>T	ENST00000323571.4	+	5	901	c.661C>T	c.(661-663)Cga>Tga	p.R221*	WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Nonsense_Mutation_p.R221*|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000583130.1_Nonsense_Mutation_p.R221*	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	221					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCACCCTGGTCGAGAGGGACC	0.617										HNSCC(43;0.11)																																							0													141	125	130					17																	38421089		2203	4300	6503	SO:0001587	stop_gained	0			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.661C>T	17.37:g.38421089C>T	ENSP00000320924:p.Arg221*		A8K0L3|Q658J8|Q71RE1|Q8TE44	Nonsense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.R221*	ENST00000323571.4	37	c.661	CCDS11364.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.869245	0.97049	.	.	ENSG00000171475	ENST00000323571	.	.	.	5.69	5.69	0.88448	.	0.246445	0.32952	N	0.005457	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.298	15.3874	0.74711	0.1398:0.8602:0.0:0.0	.	.	.	.	X	221	.	ENSP00000320924:R221X	R	+	1	2	WIPF2	35674615	0.921000	0.31238	0.997000	0.53966	0.983000	0.72400	1.571000	0.36450	2.698000	0.92095	0.456000	0.33151	CGA	WIPF2	-	NULL	ENSG00000171475		0.617	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WIPF2	HGNC	protein_coding	OTTHUMT00000257157.2	-	0	109	0	C	NM_133264		38421089	1	tier1	-	no_errors	ENST00000323571	ensembl	human	known	74_37	nonsense	29.49	110	46	SNP	0.992	T	T	38421089	C	T	38421089	4	4	5	1	0	0	0	0	0	1	0	0	17417	876	31	1	675	1	WIPF2	17	38421089	Nonsense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	5139480	38421089	42774121	168	1432											
NBR1	4077	genome.wustl.edu	37	chr17	41345151	41345151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgttatgccaatgctcAgtgcagcatttgtggatgag	8	12	11	10	1	1	1	1	1	0	0	2	2	2	2	3	1	4	4	3	1	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:41345151A>G	ENST00000422280.1	+	11	1573	c.1114A>G	c.(1114-1116)Agt>Ggt	p.S372G	NBR1_ENST00000341165.6_Missense_Mutation_p.S372G|NBR1_ENST00000389312.4_Missense_Mutation_p.S372G|NBR1_ENST00000590996.1_Missense_Mutation_p.S372G|NBR1_ENST00000542611.1_Missense_Mutation_p.S351G|NBR1_ENST00000589872.1_Missense_Mutation_p.S372G	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	372					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GCCAATGCTCAGTGCAGCATT	0.453																																																	0													100	92	95					17																	41345151		1915	4129	6044	SO:0001583	missense	0			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1114A>G	17.37:g.41345151A>G	ENSP00000411250:p.Ser372Gly		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.S372G	ENST00000422280.1	37	c.1114	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	A	16.38	3.108071	0.56291	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.48201	1.4;0.82;1.4;1.4	6.17	5.1	0.69264	.	0.096018	0.64402	D	0.000001	T	0.41328	0.1154	L	0.46157	1.445	0.41808	D	0.989953	B;B;B;B	0.31548	0.146;0.328;0.185;0.284	B;B;B;B	0.29176	0.079;0.059;0.099;0.059	T	0.33471	-0.9867	10	0.54805	T	0.06	-5.314	12.1341	0.53961	0.934:0.0:0.066:0.0	.	372;351;372;372	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	G	372;351;372;372;372	ENSP00000411250:S372G;ENSP00000437545:S351G;ENSP00000343479:S372G;ENSP00000373963:S372G	ENSP00000343479:S372G	S	+	1	0	NBR1	38598677	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.742000	0.62103	1.166000	0.42689	0.533000	0.62120	AGT	NBR1	-	NULL	ENSG00000188554		0.453	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	-	0	56	0	A	NM_005899		41345151	1	tier1	-	no_errors	ENST00000341165	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	G	G	41345151	A	G	41345151	3	3	5	1	0	0	0	0	1	0	0	0	10239	188	7	4	1152	4	NBR1	17	41345151	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	2924062	41345151	39850059	169	1433											
GPATCH8	23131	genome.wustl.edu	37	chr17	42478100	42478100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgctccttggcttgctgCcgccttgatgcagcttttag	3	16	10	12	1	1	1	0	1	1	0	2	1	2	1	3	1	5	5	3	1	1	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:42478100C>T	ENST00000591680.1	-	8	1375	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A371T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	449							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGGCTTGCTGCCGCCTTGATG	0.502											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													157	157	157					17																	42478100		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1345G>A	17.37:g.42478100C>T	ENSP00000467556:p.Ala449Thr	909	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.A449T	ENST00000591680.1	37	c.1345	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	C	8.499	0.863795	0.17250	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.11385	2.78	5.02	-0.309	0.12769	.	0.702694	0.13772	N	0.363850	T	0.07188	0.0182	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.40728	T	0.16	0.001	8.3644	0.32378	0.0:0.486:0.0:0.514	.	449	Q9UKJ3	GPTC8_HUMAN	T	449;371	ENSP00000395016:A371T	ENSP00000335486:A449T	A	-	1	0	GPATCH8	39833626	0.016000	0.18221	0.188000	0.23233	0.813000	0.45954	0.398000	0.20899	-0.147000	0.11254	0.563000	0.77884	GCA	GPATCH8	-	NULL	ENSG00000186566		0.502	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0	52	0	C	NM_001002909		42478100	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.000	T	T	42478100	C	T	42478100	3	4	5	1	0	0	0	0	1	0	0	0	6620	739	26	3	3167	3	GPATCH8	17	42478100	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	1132949	42478100	38717110	170	1434											
ERN1	2081	genome.wustl.edu	37	chr17	62133085	62133085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagccttggaggcagagCtgccggagcagagcgagtgg	8	5	18	10	2	0	2	0	0	0	2	0	5	0	4	3	4	6	3	3	4	0	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:62133085C>T	ENST00000433197.3	-	13	1717	c.1622G>A	c.(1621-1623)aGc>aAc	p.S541N		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GGAGGCAGAGCTGCCGGAGCA	0.612																																																	0													21	23	22					17																	62133085		2093	4232	6325	SO:0001583	missense	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1622G>A	17.37:g.62133085C>T	ENSP00000401445:p.Ser541Asn			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.S541N	ENST00000433197.3	37	c.1622	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	C	9.875	1.200106	0.22121	.	.	ENSG00000178607	ENST00000433197	T	0.60424	0.19	5.11	2.85	0.33270	.	0.606698	0.18232	N	0.147526	T	0.27169	0.0666	N	0.08118	0	0.25331	N	0.989033	B	0.02656	0.0	B	0.01281	0.0	T	0.09640	-1.0665	10	0.13853	T	0.58	-7.5504	2.3007	0.04162	0.2603:0.4772:0.1557:0.1069	.	541	O75460	ERN1_HUMAN	N	541	ENSP00000401445:S541N	ENSP00000401445:S541N	S	-	2	0	ERN1	59486817	0.995000	0.38212	0.941000	0.38009	0.844000	0.47949	3.154000	0.50693	2.376000	0.81061	0.407000	0.27541	AGC	ERN1	-	NULL	ENSG00000178607		0.612	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2		0	24	0	C	NM_001433		62133085	-1			no_errors	ENST00000433197	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.993	T	T	62133085	C	T	62133085	3	4	5	1	0	0	0	0	1	0	0	0	5253	797	28	3	1351	3	ERN1	17	62133085	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	19654985	62133085	19062125	171	1435											
ABCA10	10349	genome.wustl.edu	37	chr17	67148624	67148624	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagcctgaagtatctgccTaaagataaagtaagggattg	14	10	12	5	0	1	2	0	1	1	1	1	3	1	3	2	2	2	3	2	2	8	6			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr17:67148624T>A	ENST00000269081.4	-	36	5046		c.e36-2		ABCA10_ENST00000519732.1_Splice_Site|ABCA10_ENST00000416101.2_Splice_Site	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGTATCTGCCTAAAGATAAAG	0.398																																																	0													104	96	99					17																	67148624		2203	4300	6503	SO:0001630	splice_region_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4137-2A>T	17.37:g.67148624T>A			C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Splice_Site	SNP	-	e33-2	ENST00000269081.4	37	c.4137-2	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	9.656	1.142815	0.21205	.	.	ENSG00000154263	ENST00000269081	.	.	.	3.07	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6679	0.51385	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA10	64660219	1.000000	0.71417	0.920000	0.36463	0.060000	0.15804	6.532000	0.73825	1.390000	0.46547	0.460000	0.39030	.	ABCA10	-	-	ENSG00000154263		0.398	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	50	0	T	NM_080282	Intron	67148624	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	0.994	A	A	67148624	T	A	67148624	5	1	5	1	0	0	0	0	0	0	1	0	29	1536	53	5	516	5	ABCA10	17	67148624	Splice_Site	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	5015539	67148624	14046586	172	1436											
METTL4	64863	genome.wustl.edu	37	chr18	2554995	2554995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaaccacttttgagaccttCctggatcaactgtaaagatc	14	11	6	10	0	1	2	1	1	0	2	3	4	2	3	3	1	2	1	3	1	5	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:2554995C>T	ENST00000574538.1	-	4	1277	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	METTL4_ENST00000319888.6_Missense_Mutation_p.E168K|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	168					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TTGAGACCTTCCTGGATCAAC	0.363																																																	0													116	134	128					18																	2554995		2203	4300	6503	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.502G>A	18.37:g.2554995C>T	ENSP00000458290:p.Glu168Lys		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.E168K	ENST00000574538.1	37	c.502	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028677	0.54790	.	.	ENSG00000101574	ENST00000319888	T	0.24350	1.86	5.74	4.87	0.63330	.	0.318441	0.32852	N	0.005572	T	0.25269	0.0614	L	0.56769	1.78	0.41650	D	0.989128	B	0.29909	0.261	B	0.21546	0.035	T	0.03212	-1.1060	10	0.33940	T	0.23	-10.1025	14.179	0.65562	0.0:0.9286:0.0:0.0714	.	168	Q8N3J2	METL4_HUMAN	K	168	ENSP00000320349:E168K	ENSP00000320349:E168K	E	-	1	0	METTL4	2544995	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	3.824000	0.55723	2.695000	0.91970	0.655000	0.94253	GAA	METTL4	-	NULL	ENSG00000101574		0.363	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3	-	0	61	0	C	NM_022840		2554995	-1	tier1	-	no_errors	ENST00000574538	ensembl	human	known	74_37	missense	27.40	52	20	SNP	1.000	T	T	2554995	C	T	2554995	3	4	5	1	0	0	0	0	1	0	0	0	9540	864	30	3	940	3	METTL4	18	2554995	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		2554995	75522253	173	1437											
TAF4B	6875	genome.wustl.edu	37	chr18	23845280	23845280	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaatctgtacagtgccgGtaatataccttaaatatttt	14	15	5	7	1	2	0	1	0	1	0	2	0	2	0	2	1	3	2	2	1	9	8			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:23845280G>A	ENST00000269142.5	+	2	1487		c.e2+1		RP11-25D3.1_ENST00000580975.1_RNA|TAF4B_ENST00000400466.2_Splice_Site|TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TACAGTGCCGGTAATATACCT	0.348																																																	0													99	94	96					18																	23845280		1873	4103	5976	SO:0001630	splice_region_variant	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.489+1G>A	18.37:g.23845280G>A			Q29YA4|Q29YA5	Splice_Site	SNP	-	e2+1	ENST00000269142.5	37	c.489+1	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306808	0.23821	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7927	0.85593	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF4B	22099278	1.000000	0.71417	0.998000	0.56505	0.071000	0.16799	6.058000	0.71126	2.454000	0.82982	0.557000	0.71058	.	TAF4B	-	-	ENSG00000141384		0.348	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	-	0	60	0	G	NM_005640	Intron	23845280	1	tier1	-	no_errors	ENST00000269142	ensembl	human	known	74_37	splice_site	11.54	23	3	SNP	1.000	A	A	23845280	G	A	23845280	5	1	5	1	0	0	0	0	0	0	1	0	15574	1275	44	3	496	3	TAF4B	18	23845280	Splice_Site	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	21290285	23845280	54231968	174	1438											
TCEB3B	51224	genome.wustl.edu	37	chr18	44560144	44560144	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaaagcagcttcctcccGgaactttggtgaagagagtg	11	8	14	8	1	0	2	0	1	0	1	2	5	2	4	2	3	3	2	2	3	3	2	rs549369877		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:44560144G>T	ENST00000332567.4	-	1	1844	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	498			R -> Q (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTCCTCCCGGAACTTTGGT	0.602																																																	0													66	75	72					18																	44560144		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1492C>A	18.37:g.44560144G>T			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R498	ENST00000332567.4	37	c.1492	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.602	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0	76	0	G	NM_016427		44560144	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.004	T	T	44560144	G	T	44560144	2	4	5	1	0	0	0	0	0	0	0	1	15729	1115	39	2		2	TCEB3B	18	44560144	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	20714864	44560144	33517104	175	1439											
SERPINB12	89777	genome.wustl.edu	37	chr18	61234074	61234074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattatccacaaaacctttGtggaggtggatgaaaacggt	15	10	10	6	1	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	6	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr18:61234074G>A	ENST00000269491.1	+	7	1048	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SERPINB12_ENST00000382768.1_Missense_Mutation_p.V370M	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	350					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CAAAACCTTTGTGGAGGTGGA	0.478																																																	0													88	92	91					18																	61234074		2203	4300	6503	SO:0001583	missense	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1048G>A	18.37:g.61234074G>A	ENSP00000269491:p.Val350Met		Q3SYB4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V350M	ENST00000269491.1	37	c.1048	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444525	0.43429	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.83673	-1.75;-1.75	5.81	0.777	0.18538	Serpin domain (3);	0.445220	0.20957	N	0.082627	D	0.88779	0.6529	M	0.85041	2.73	0.47214	D	0.999352	D;D	0.65815	0.995;0.993	D;P	0.67725	0.953;0.844	D	0.85336	0.1093	10	0.87932	D	0	.	5.8899	0.18904	0.0608:0.3322:0.3782:0.2288	.	370;350	Q3SYB4;Q96P63	.;SPB12_HUMAN	M	350;370	ENSP00000269491:V350M;ENSP00000372218:V370M	ENSP00000269491:V350M	V	+	1	0	SERPINB12	59385054	0.980000	0.34600	0.735000	0.30896	0.042000	0.13812	1.733000	0.38156	-0.137000	0.11455	-0.182000	0.12963	GTG	SERPINB12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000166634		0.478	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1		0	60	0	G	NM_080474		61234074	1			no_errors	ENST00000269491	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.994	A	A	61234074	G	A	61234074	3	1	5	1	0	0	0	0	1	0	0	0	14144	1377	48	3	1074	3	SERPINB12	18	61234074	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	16673930	61234074	16843174	176	1440											
EVI5L	115704	genome.wustl.edu	37	chr19	7914023	7914023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaggtcctcttcaacGtcatgaaggtgaggcccagg	9	7	14	11	1	3	2	2	2	1	0	4	3	4	3	3	5	1	0	3	5	2	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:7914023G>A	ENST00000270530.4	+	4	740	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	EVI5L_ENST00000538904.2_Missense_Mutation_p.V182I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	182	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCTTCAACGTCATGAAGGT	0.642																																																	0													34	31	32					19																	7914023		2202	4300	6502	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.544G>A	19.37:g.7914023G>A	ENSP00000270530:p.Val182Ile		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V182I	ENST00000270530.4	37	c.544	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	19.62	3.862153	0.71949	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.10099	2.91;2.91	3.91	3.91	0.45181	Rab-GAP/TBC domain (4);	0.129302	0.50627	D	0.000101	T	0.25158	0.0611	L	0.54863	1.705	0.80722	D	1	D;D	0.76494	0.989;0.999	P;D	0.69142	0.885;0.962	T	0.00893	-1.1524	10	0.38643	T	0.18	-45.7164	13.4556	0.61197	0.0:0.0:1.0:0.0	.	182;182	B9A6I9;Q96CN4	.;EVI5L_HUMAN	I	182	ENSP00000270530:V182I;ENSP00000445905:V182I	ENSP00000270530:V182I	V	+	1	0	EVI5L	7820023	1.000000	0.71417	0.965000	0.40720	0.419000	0.31324	9.657000	0.98554	2.023000	0.59567	0.462000	0.41574	GTC	EVI5L	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000142459		0.642	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	-	0	82	0	G	NM_145245		7914023	1	tier1	-	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.999	A	A	7914023	G	A	7914023	3	1	5	1	0	0	0	0	1	0	0	0	5306	1145	40	1	554	1	EVI5L	19	7914023	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		7914023	51214960	177	1441											
MUC16	94025	genome.wustl.edu	37	chr19	9049462	9049462	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacagtcataattggaatAgctgaactggtttctgcccc	11	11	10	9	0	2	2	1	1	1	1	2	4	2	3	2	2	3	2	2	2	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:9049462A>G	ENST00000397910.4	-	5	32372	c.32169T>C	c.(32167-32169)gcT>gcC	p.A10723A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10725	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATTGGAATAGCTGAACTGG	0.458																																																	0													241	214	222					19																	9049462		1923	4140	6063	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32169T>C	19.37:g.9049462A>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A10723	ENST00000397910.4	37	c.32169	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	76	0	A	NM_024690		9049462	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	39.13	42	27	SNP	0.000	G	G	9049462	A	G	9049462	2	3	5	1	0	0	0	0	0	0	0	1	10011	407	15	4		4	MUC16	19	9049462	Silent	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	1135439	9049462	50079521	178	1442											
SMARCA4	6597	genome.wustl.edu	37	chr19	11132405	11132405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctggggcccgcagatccGttggaagtacatgattgtgg	8	10	14	9	2	1	2	0	1	1	1	2	3	2	3	2	4	1	3	2	4	2	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:11132405G>A	ENST00000429416.3	+	20	2902	c.2621G>A	c.(2620-2622)cGt>cAt	p.R874H	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R874H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R874H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R874H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R874H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R874H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R874H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R874H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R874H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	874	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCAGATCCGTTGGAAGTAC	0.632			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											49	40	43					19																	11132405		2202	4300	6502	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2621G>A	19.37:g.11132405G>A	ENSP00000395654:p.Arg874His		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.R874H	ENST00000429416.3	37	c.2621	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634898	0.47049	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	4.66	3.63	0.41609	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	N	0.05534	-0.03	0.58432	D	0.999998	P;P;P;P;D;B;P;P	0.89917	0.877;0.877;0.877;0.76;1.0;0.187;0.877;0.877	B;B;B;P;D;B;B;B	0.79784	0.43;0.43;0.43;0.581;0.993;0.074;0.43;0.43	D	0.91709	0.5380	10	0.52906	T	0.07	-20.8892	11.7624	0.51912	0.0872:0.0:0.9128:0.0	.	874;874;874;874;874;94;874;874	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	H	874;874;938;874;874;874;874;874	ENSP00000395654:R874H;ENSP00000350720:R874H;ENSP00000343896:R874H;ENSP00000445036:R874H;ENSP00000392837:R874H;ENSP00000397783:R874H;ENSP00000414727:R874H	ENSP00000343896:R874H	R	+	2	0	SMARCA4	10993405	1.000000	0.71417	0.952000	0.39060	0.095000	0.18619	7.810000	0.86072	1.197000	0.43143	-0.136000	0.14681	CGT	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000127616		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	83	0	G	NM_003072		11132405	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	11.59	61	8	SNP	0.998	A	A	11132405	G	A	11132405	3	1	5	1	0	0	0	0	1	0	0	0	14815	1145	40	1	2691	1	SMARCA4	19	11132405	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	2082943	11132405	47996578	179	1443											
ASNA1	439	genome.wustl.edu	37	chr19	12856427	12856427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgtctcccctcaggctgGtgaagggcatgaacttctcg	6	10	11	14	1	3	2	1	2	2	0	5	2	3	2	3	3	1	2	3	3	2	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:12856427G>T	ENST00000591090.1	+	5	565	c.463G>T	c.(463-465)Gtg>Ttg	p.V155L	ASNA1_ENST00000357332.3_Missense_Mutation_p.V155L					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)									p.V155L(1)		endometrium(1)|lung(6)|ovary(3)	10						CCTCAGGCTGGTGAAGGGCAT	0.667																																																	1	Substitution - Missense(1)	lung(1)											70	71	70					19																	12856427		2203	4300	6503	SO:0001583	missense	0			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.463G>T	19.37:g.12856427G>T	ENSP00000466379:p.Val155Leu			Missense_Mutation	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	p.V155L	ENST00000591090.1	37	c.463	CCDS32920.1	19	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884801	0.72410	.	.	ENSG00000198356	ENST00000357332	T	0.33865	1.39	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	L	0.52011	1.625	0.80722	D	1	P;B	0.47604	0.898;0.034	P;B	0.47346	0.544;0.074	T	0.42515	-0.9447	10	0.59425	D	0.04	-38.2276	16.7241	0.85417	0.0:0.0:1.0:0.0	.	137;155	E7EVN0;O43681	.;ASNA_HUMAN	L	155	ENSP00000349887:V155L	ENSP00000349887:V155L	V	+	1	0	ASNA1	12717427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.937000	0.92936	2.233000	0.73108	0.655000	0.94253	GTG	ASNA1	-	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	ENSG00000198356		0.667	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1		0	34	0	G	NM_004317		12856427	1			no_errors	ENST00000357332	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	12856427	G	T	12856427	3	4	5	1	0	0	0	0	1	0	0	0	1048	1261	44	3	477	3	ASNA1	19	12856427	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1724022	12856427	46272556	180	1444											
NR2F6	2063	genome.wustl.edu	37	chr19	17346329	17346329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcgtgaagagcgcgatggCcttgaggcagccatactcgg	8	6	17	10	4	0	3	0	2	0	1	1	4	0	3	2	4	3	1	2	4	2	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:17346329C>T	ENST00000291442.3	-	3	1638	c.919G>A	c.(919-921)Gcc>Acc	p.A307T		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	307	Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGCGCGATGGCCTTGAGGCAG	0.697																																																	0													8	8	8					19																	17346329		2113	4182	6295	SO:0001583	missense	0			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"Nuclear hormone receptors"	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.919G>A	19.37:g.17346329C>T	ENSP00000291442:p.Ala307Thr		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A307T	ENST00000291442.3	37	c.919	CCDS12352.1	19	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915006	0.92178	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	D	0.97994	-4.65	4.69	4.69	0.59074	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.88105	2.93	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	D	0.99723	1.1010	10	0.87932	D	0	.	15.0696	0.72024	0.0:1.0:0.0:0.0	.	307	P10588	NR2F6_HUMAN	T	307;280	ENSP00000291442:A307T	ENSP00000291442:A307T	A	-	1	0	NR2F6	17207329	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	7.503000	0.81632	2.155000	0.67459	0.297000	0.19635	GCC	NR2F6	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000160113		0.697	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F6	HGNC	protein_coding	OTTHUMT00000463325.1		0	15	0	C			17346329	-1			no_errors	ENST00000291442	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T	T	17346329	C	T	17346329	3	4	5	1	0	0	0	0	1	0	0	0	10668	739	26	3	303	3	NR2F6	19	17346329	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	4489902	17346329	41782654	181	1445											
GTPBP3	84705	genome.wustl.edu	37	chr19	17452322	17452322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagatcccccgctgctgaCccgagcaaggcaccagcacc	10	3	9	19	2	0	2	0	1	0	1	1	3	1	2	5	1	3	5	5	1	1	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:17452322C>T	ENST00000324894.8	+	9	1357	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I	GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.T462I|GTPBP3_ENST00000361619.5_Missense_Mutation_p.T452I|GTPBP3_ENST00000600625.1_Missense_Mutation_p.T409I	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	430					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CCGCTGCTGACCCGAGCAAGG	0.617																																																	0													44	49	47					19																	17452322		2203	4300	6503	SO:0001583	missense	0			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.1289C>T	19.37:g.17452322C>T	ENSP00000313818:p.Thr430Ile		A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom	p.T462I	ENST00000324894.8	37	c.1385	CCDS32951.1	19	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394085	0.62066	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.30714	1.52;1.52;1.52	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.52597	0.1744	L	0.52905	1.665	0.80722	D	1	D;D;D;D	0.89917	0.994;0.997;0.991;1.0	D;D;D;D	0.91635	0.949;0.987;0.953;0.999	T	0.52208	-0.8606	10	0.87932	D	0	-19.9051	17.0849	0.86609	0.0:1.0:0.0:0.0	.	452;430;409;462	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	I	452;430;462	ENSP00000354598:T452I;ENSP00000313818:T430I;ENSP00000351644:T462I	ENSP00000313818:T430I	T	+	2	0	GTPBP3	17313322	1.000000	0.71417	0.894000	0.35097	0.023000	0.10783	6.884000	0.75600	2.633000	0.89246	0.561000	0.74099	ACC	GTPBP3	-	NULL	ENSG00000130299		0.617	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP3	HGNC	protein_coding	OTTHUMT00000463624.1	-	0	55	0	C	NM_032620		17452322	1	tier1	-	no_errors	ENST00000358792	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	17452322	C	T	17452322	3	4	5	1	0	0	0	0	1	0	0	0	6908	507	18	3	1415	3	GTPBP3	19	17452322	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	105993	17452322	41676661	182	1446											
ZNF536	9745	genome.wustl.edu	37	chr19	30935725	30935725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcccatgggcggcatgtCccaggaggcccacgccaacc	7	5	13	16	2	0	0	0	0	0	0	1	1	1	1	5	4	2	1	5	4	1	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:30935725C>A	ENST00000355537.3	+	2	1403	c.1256C>A	c.(1255-1257)tCc>tAc	p.S419Y		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	419					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGGCATGTCCCAGGAGGCC	0.627																																																	0													39	40	39					19																	30935725		2203	4299	6502	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1256C>A	19.37:g.30935725C>A	ENSP00000347730:p.Ser419Tyr		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S419Y	ENST00000355537.3	37	c.1256	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916501	0.33815	.	.	ENSG00000198597	ENST00000355537	T	0.08807	3.05	5.44	5.44	0.79542	.	0.227212	0.46442	D	0.000292	T	0.11239	0.0274	L	0.29908	0.895	0.48135	D	0.999597	P;P	0.44195	0.828;0.828	B;B	0.44085	0.44;0.44	T	0.02546	-1.1143	10	0.59425	D	0.04	-11.2491	19.25	0.93921	0.0:1.0:0.0:0.0	.	419;419	A7E228;O15090	.;ZN536_HUMAN	Y	419	ENSP00000347730:S419Y	ENSP00000347730:S419Y	S	+	2	0	ZNF536	35627565	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	7.457000	0.80775	2.535000	0.85469	0.591000	0.81541	TCC	ZNF536	-	NULL	ENSG00000198597		0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	41	0	C	NM_014717		30935725	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	5.95	253	16	SNP	1.000	A	A	30935725	C	A	30935725	3	1	5	1	0	0	0	0	1	0	0	0	18022	855	30	3	1258	3	ZNF536	19	30935725	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	13483403	30935725	28193258	183	1447											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38609988	38609988	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgctcctcctttcggcccCcccatccccagtggaaccac	6	7	7	21	2	0	0	0	0	0	0	4	2	3	1	8	2	1	1	8	2	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:38609988C>T	ENST00000222345.6	+	9	2843	c.2334C>T	c.(2332-2334)ccC>ccT	p.P778P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	778	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTTTCGGCCCCCCCATCCCCA	0.537																																																	0													69	76	74					19																	38609988		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2334C>T	19.37:g.38609988C>T			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P778	ENST00000222345.6	37	c.2334	CCDS33007.1	19																																																																																			SIPA1L3	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000105738		0.537	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	-	0	68	0	C	XM_032278		38609988	1	tier1	-	no_errors	ENST00000222345	ensembl	human	known	74_37	silent	13.70	63	10	SNP	1.000	T	T	38609988	C	T	38609988	2	4	5	1	0	0	0	0	0	0	0	1	14376	610	22	3		3	SIPA1L3	19	38609988	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	7674263	38609988	20518995	184	1448											
CAPN12	147968	genome.wustl.edu	37	chr19	39226939	39226939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagcgcatggctgcgcgggGaatcccagaggcccagcagc	8	3	17	13	3	0	1	0	0	0	1	1	3	1	3	2	5	4	3	2	5	1	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:39226939G>A	ENST00000328867.4	-	12	1702	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.S316F	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	465	Domain III.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCTGCGCGGGGAATCCCAGAG	0.776																																																	0													2	2	2					19																	39226939		1123	2345	3468	SO:0001583	missense	0			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1394C>T	19.37:g.39226939G>A	ENSP00000331636:p.Ser465Phe			Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.S465F	ENST00000328867.4	37	c.1394	CCDS12519.1	19	.	.	.	.	.	.	.	.	.	.	g	18.00	3.526470	0.64860	.	.	ENSG00000182472	ENST00000328867	D	0.87809	-2.3	3.59	3.59	0.41128	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	2.037290	0.01902	N	0.039255	D	0.85239	0.5651	L	0.39245	1.2	0.29399	N	0.862094	P	0.41393	0.748	B	0.40444	0.329	T	0.76019	-0.3112	10	0.56958	D	0.05	.	10.8694	0.46875	0.0:0.0:1.0:0.0	.	465	Q6ZSI9	CAN12_HUMAN	F	465	ENSP00000331636:S465F	ENSP00000331636:S465F	S	-	2	0	CAPN12	43918779	0.974000	0.33945	0.993000	0.49108	0.785000	0.44390	2.336000	0.43938	2.005000	0.58758	0.479000	0.44913	TCC	CAPN12	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000182472		0.776	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	-	0	15	0	G			39226939	-1	tier1	-	no_errors	ENST00000328867	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	A	A	39226939	G	A	39226939	3	1	5	1	0	0	0	0	1	0	0	0	2632	1174	41	3	805	3	CAPN12	19	39226939	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	616951	39226939	19902044	185	1449											
ZNF285	26974	genome.wustl.edu	37	chr19	44891312	44891312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggctttttccctgtgtgTactccctgatgaatacaaag	9	14	9	9	0	0	2	0	2	0	0	2	2	2	2	2	1	2	2	2	1	5	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:44891312T>C	ENST00000330997.4	-	4	1159	c.1095A>G	c.(1093-1095)gtA>gtG	p.V365V	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.V372V|ZNF285_ENST00000544719.2_Silent_p.V365V	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	365					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCTGTGTGTACTCCCTGAT	0.473																																																	0													71	73	72					19																	44891312		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1095A>G	19.37:g.44891312T>C			Q17RJ3|Q6B0A8|Q6ISR5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V365	ENST00000330997.4	37	c.1095	CCDS12638.1	19																																																																																			ZNF285	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267508		0.473	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0	101	0	T	NM_152354		44891312	-1	tier1	-	no_errors	ENST00000330997	ensembl	human	known	74_37	silent	28.68	92	37	SNP	0.017	C	C	44891312	T	C	44891312	2	2	5	1	0	0	0	0	0	0	0	1	17870	1625	57	4		4	ZNF285	19	44891312	Silent	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	5664373	44891312	14237671	186	1450											
ZNF285	26974	genome.wustl.edu	37	chr19	44892266	44892266	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtttttaatcccgtctccTaggagaagaaagagaatttg	12	14	9	6	1	1	3	0	0	1	3	3	5	2	3	2	1	0	1	2	1	5	6	rs200167944		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:44892266T>C	ENST00000330997.4	-	4	207		c.e4-2		CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Splice_Site|ZNF285_ENST00000544719.2_Splice_Site	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCGTCTCCTAGGAGAAGAA	0.413																																																	0													50	54	53					19																	44892266		2173	4283	6456	SO:0001630	splice_region_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.143-2A>G	19.37:g.44892266T>C			Q17RJ3|Q6B0A8|Q6ISR5	Splice_Site	SNP	-	e3-2	ENST00000330997.4	37	c.143-2	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218077	0.22373	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3975	0.38412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF285	49584106	0.507000	0.26146	0.215000	0.23724	0.122000	0.20287	3.134000	0.50538	1.528000	0.49103	0.373000	0.22412	.	ZNF285	-	-	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1		0	15	0	T	NM_152354	Intron	44892266	-1			no_errors	ENST00000330997	ensembl	human	known	74_37	splice_site	5.71	33	2	SNP	0.017	C	C	44892266	T	C	44892266	5	2	5	1	0	0	0	0	0	0	1	0	17870	1536	53	4	1635	4	ZNF285	19	44892266	Splice_Site	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	954	44892266	14236717	187	1451											
SIGLEC11	114132	genome.wustl.edu	37	chr19	50464118	50464118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggttgcaagacacgaTgacacacaggccctccggca	12	4	13	12	2	0	3	0	1	0	2	1	5	1	3	2	4	1	3	2	4	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:50464118T>C	ENST00000447370.2	-	2	241	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.I51V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	51	Ig-like V-type.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAAGACACGATGACACACAGG	0.607																																																	0													16	12	13					19																	50464118		2175	4210	6385	SO:0001583	missense	0			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.151A>G	19.37:g.50464118T>C	ENSP00000412361:p.Ile51Val			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I51V	ENST00000447370.2	37	c.151	CCDS12790.2	19	.	.	.	.	.	.	.	.	.	.	T	1.309	-0.602598	0.03744	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.21191	2.02	2.63	-4.59	0.03400	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.013700	0.01868	N	0.037009	T	0.07773	0.0195	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.15052	0.007;0.012	T	0.18808	-1.0325	10	0.16896	T	0.51	.	3.4609	0.07532	0.4438:0.0:0.3746:0.1816	.	51;51	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	V	51	ENSP00000412361:I51V	ENSP00000412361:I51V	I	-	1	0	SIGLEC11	55155930	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.934000	0.03955	-0.918000	0.03808	-0.472000	0.04984	ATC	SIGLEC11	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000161640		0.607	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	-	0	112	0	T	NM_052884		50464118	-1	tier1	-	no_errors	ENST00000447370	ensembl	human	known	74_37	missense	22.14	108	31	SNP	0.001	C	C	50464118	T	C	50464118	3	2	5	1	0	0	0	0	1	0	0	0	14352	1464	51	4	1985	4	SIGLEC11	19	50464118	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	5571852	50464118	8664865	188	1452											
SHANK1	50944	genome.wustl.edu	37	chr19	51165297	51165297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcacacctagatcgacGtagtcctccttggtcaaggc	8	10	10	13	2	2	1	2	0	0	1	5	2	4	1	3	3	0	1	3	3	3	3	rs145388631	byFrequency	TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:51165297G>A	ENST00000293441.1	-	23	6429	c.6411C>T	c.(6409-6411)taC>taT	p.Y2137Y	SHANK1_ENST00000391814.1_Silent_p.Y2145Y|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391813.1_Silent_p.Y1524Y|SHANK1_ENST00000359082.3_Silent_p.Y2128Y	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2137	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTAGATCGACGTAGTCCTCCT	0.627																																																	0										6,4400	9.9+/-24.2	0,6,2197	80	71	74		6411	-5.7	0	19	dbSNP_134	74	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	SHANK1	NM_016148.2		0,14,6489	AA,AG,GG		0.093,0.1362,0.1076		2137/2162	51165297	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6411C>T	19.37:g.51165297G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.Y2145	ENST00000293441.1	37	c.6435	CCDS12799.1	19																																																																																			SHANK1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000161681		0.627	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	-	0	84	0	G	NM_016148		51165297	-1	tier1	rs145388631	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	6.02	125	8	SNP	0.876	A	A	51165297	G	A	51165297	2	1	5	1	0	0	0	0	0	0	0	1	14309	1140	40	1		1	SHANK1	19	51165297	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	701179	51165297	7963686	189	1453											
ZNF324	25799	genome.wustl.edu	37	chr19	58982373	58982373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttaggcctcccgagggcGtccggcttagagaaaagaca	10	6	13	12	4	0	2	0	0	0	2	2	4	2	2	3	3	0	2	3	3	4	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr19:58982373G>A	ENST00000536459.2	+	4	1223	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	ZNF324_ENST00000196482.3_Missense_Mutation_p.V172I|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCCGAGGGCGTCCGGCTTAG	0.642																																																	0													49	50	49					19																	58982373		2203	4300	6503	SO:0001583	missense	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.514G>A	19.37:g.58982373G>A	ENSP00000444812:p.Val172Ile		B3KRX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V172I	ENST00000536459.2	37	c.514	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637814	0.14386	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05319	3.46;3.46	3.15	-5.92	0.02261	.	1.698790	0.03290	N	0.187398	T	0.03434	0.0099	N	0.08118	0	0.09310	N	0.999993	B	0.14438	0.01	B	0.04013	0.001	T	0.44003	-0.9356	10	0.59425	D	0.04	.	6.6537	0.22977	0.3851:0.1233:0.4915:0.0	.	172	O75467	Z324A_HUMAN	I	172;172;172;162	ENSP00000196482:V172I;ENSP00000444812:V172I	ENSP00000196482:V172I	V	+	1	0	ZNF324	63674185	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.476000	0.02333	-1.240000	0.02529	0.455000	0.32223	GTC	ZNF324	-	NULL	ENSG00000083812		0.642	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1		0	48	0	G	NM_014347		58982373	1			no_errors	ENST00000196482	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A	A	58982373	G	A	58982373	3	1	5	1	0	0	0	0	1	0	0	0	17892	1145	40	1	524	1	ZNF324	19	58982373	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	7817076	58982373	146610	190	1454											
FASTKD5	60493	genome.wustl.edu	37	chr20	3129047	3129047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctcatacacatctagcaTtgaatgggagtgagggattc	11	11	12	7	0	2	2	1	2	2	0	4	4	2	4	0	3	2	1	0	3	3	4	rs144604664		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:3129047T>C	ENST00000380266.3	-	2	991	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	224					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACATCTAGCATTGAATGGGAG	0.443																																																	0								T	,VAL/MET,	0,4406		0,0,2203	59	59	59		,670,	2.5	1	20	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	yes	intron,missense,intron	UBOX5,FASTKD5	NM_014948.2,NM_021826.4,NM_199415.1	,21,	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,benign,	,224/765,	3129047	2,13004	2203	4300	6503	SO:0001583	missense	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.670A>G	20.37:g.3129047T>C	ENSP00000369618:p.Met224Val		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.M224V	ENST00000380266.3	37	c.670	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	T	0.291	-0.979848	0.02197	0.0	2.33E-4	ENSG00000215251	ENST00000380266	T	0.13901	2.55	5.9	2.48	0.30137	.	0.283401	0.33346	N	0.005010	T	0.06371	0.0164	N	0.17082	0.46	0.28531	N	0.91257	B	0.02656	0.0	B	0.06405	0.002	T	0.39035	-0.9633	10	0.10377	T	0.69	.	6.2436	0.20805	0.0:0.2605:0.1243:0.6153	.	224	Q7L8L6	FAKD5_HUMAN	V	224	ENSP00000369618:M224V	ENSP00000369618:M224V	M	-	1	0	FASTKD5	3077047	0.987000	0.35691	0.984000	0.44739	0.965000	0.64279	0.766000	0.26560	0.490000	0.27771	0.460000	0.39030	ATG	FASTKD5	-	NULL	ENSG00000215251		0.443	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	-	0	32	0	T	NM_021826		3129047	-1	tier1	rs144604664	no_errors	ENST00000380266	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.986	C	C	3129047	T	C	3129047	3	2	5	1	0	0	0	0	1	0	0	0	5710	1493	52	4	1628	4	FASTKD5	20	3129047	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09		3129047	59896473	191	1455											
ATRN	8455	genome.wustl.edu	37	chr20	3543940	3543940	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctggtgtttggaggaaaCacacacaatgacacatctat	14	10	9	8	0	1	1	0	1	1	0	1	3	1	3	0	3	2	2	0	3	3	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:3543940C>T	ENST00000262919.5	+	10	1784	c.1716C>T	c.(1714-1716)aaC>aaT	p.N572N	ATRN_ENST00000446916.2_Silent_p.N572N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	572					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTGGAGGAAACACACACAATG	0.423																																																	0													191	155	167					20																	3543940		2203	4300	6503	SO:0001819	synonymous_variant	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1716C>T	20.37:g.3543940C>T			A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.N572	ENST00000262919.5	37	c.1716	CCDS13053.1	20																																																																																			ATRN	-	NULL	ENSG00000088812		0.423	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2		0	92	0	C	NM_139321		3543940	1			no_errors	ENST00000262919	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	3543940	C	T	3543940	2	4	5	1	0	0	0	0	0	0	0	1	1207	477	17	3		3	ATRN	20	3543940	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	414893	3543940	59481580	192	1456											
MCM8	84515	genome.wustl.edu	37	chr20	5958593	5958593	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accacctctggtctgacggtAactctttcaaaagatagttc	11	12	7	11	1	4	2	1	1	3	1	5	2	4	2	2	2	1	2	2	2	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:5958593A>C	ENST00000378896.3	+	13	1844	c.1467A>C	c.(1465-1467)gtA>gtC	p.V489V	MCM8_ENST00000265187.4_Silent_p.V473V|MCM8_ENST00000378883.1_Silent_p.V442V|MCM8_ENST00000378886.2_Silent_p.V529V	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	489	MCM.|Thr-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GTCTGACGGTAACTCTTTCAA	0.458																																																	0													111	94	100					20																	5958593		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"REC homolog (Drosophila)"	608187	"chromosome 20 open reading frame 154"	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1467A>C	20.37:g.5958593A>C			B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.V529	ENST00000378896.3	37	c.1587	CCDS13094.1	20																																																																																			MCM8	-	pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000125885		0.458	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM8	HGNC	protein_coding	OTTHUMT00000077900.1	-	0	97	0	A	NM_032485		5958593	1	tier1	-	no_errors	ENST00000378886	ensembl	human	known	74_37	silent	38.00	62	38	SNP	0.605	C	C	5958593	A	C	5958593	2	2	5	1	0	0	0	0	0	0	0	1	9431	349	13	4		4	MCM8	20	5958593	Silent	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	2414653	5958593	57066927	193	1457											
PAK7	57144	genome.wustl.edu	37	chr20	9538353	9538353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctcagaactgacaggcAgacagtagctatctgttctt	11	11	9	10	0	3	3	1	1	3	2	4	3	3	3	0	1	3	5	0	1	3	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:9538353A>T	ENST00000378429.3	-	8	2191	c.1645T>A	c.(1645-1647)Tgc>Agc	p.C549S	PAK7_ENST00000378423.1_Missense_Mutation_p.C549S|PAK7_ENST00000353224.5_Missense_Mutation_p.C549S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	549	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACTGACAGGCAGACAGTAGCT	0.438																																																	0													136	118	124					20																	9538353		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1645T>A	20.37:g.9538353A>T	ENSP00000367686:p.Cys549Ser		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.C549S	ENST00000378429.3	37	c.1645	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843843	0.91197	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.63913	-0.07;-0.07;-0.07	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	N	0.11106	0.095	0.80722	D	1	P;P	0.44241	0.829;0.829	P;P	0.50405	0.64;0.64	T	0.54715	-0.8252	9	.	.	.	.	15.9533	0.79861	1.0:0.0:0.0:0.0	.	549;549	B0AZM9;Q9P286	.;PAK7_HUMAN	S	549;549;549;497	ENSP00000367686:C549S;ENSP00000322957:C549S;ENSP00000367679:C549S	.	C	-	1	0	PAK7	9486353	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.339000	0.96797	2.164000	0.68074	0.523000	0.50628	TGC	PAK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101349		0.438	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1		0	50	0	A			9538353	-1			no_errors	ENST00000353224	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	9538353	A	T	9538353	3	4	5	1	0	0	0	0	1	0	0	0	11444	188	7	5	530	5	PAK7	20	9538353	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	3579760	9538353	53487167	194	1458											
FAM65C	140876	genome.wustl.edu	37	chr20	49232601	49232601	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtccagctcagcctgctGcacacacagatactccctgc	8	8	9	16	0	1	1	1	0	0	1	3	1	3	1	3	1	6	3	3	1	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:49232601G>A	ENST00000327979.2	-	4	685	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	FAM65C_ENST00000045083.2_Nonsense_Mutation_p.Q92*|FAM65C_ENST00000535356.1_Nonsense_Mutation_p.Q96*|MIR1302-5_ENST00000408164.1_RNA			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	92										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCAGCCTGCTGCACACACAGA	0.547																																																	0													89	76	80					20																	49232601		2203	4300	6503	SO:0001587	stop_gained	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.274C>T	20.37:g.49232601G>A	ENSP00000332663:p.Gln92*		Q5QPB6|Q9NQQ2	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.Q96*	ENST00000327979.2	37	c.286	CCDS13431.2	20	.	.	.	.	.	.	.	.	.	.	G	40	8.191320	0.98699	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	.	.	.	5.07	5.07	0.68467	.	0.111631	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-33.3713	12.9377	0.58325	0.0:0.0:0.8372:0.1628	.	.	.	.	X	92;92;96	.	ENSP00000045083:Q92X	Q	-	1	0	FAM65C	48666008	1.000000	0.71417	0.942000	0.38095	0.844000	0.47949	6.807000	0.75201	2.365000	0.80145	0.555000	0.69702	CAG	FAM65C	-	NULL	ENSG00000042062		0.547	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	-	0	34	0	G			49232601	-1	tier1	-	no_errors	ENST00000535356	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.998	A	A	49232601	G	A	49232601	4	1	5	1	0	0	0	0	0	1	0	0	5623	1328	46	3	2642	3	FAM65C	20	49232601	Nonsense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	39694248	49232601	13792919	195	1459											
TH1L	51497	genome.wustl.edu	37	chr20	57564664	57564664	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttagatggaggagaagAaaaccttgaaaaaaatctcc	19	9	8	5	0	1	4	0	1	1	3	2	6	1	5	2	2	1	0	2	2	8	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr20:57564664A>C	ENST00000344018.3	+	6	680	c.653A>C	c.(652-654)gAa>gCa	p.E218A	NELFCD_ENST00000602795.1_Missense_Mutation_p.E227A			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	218					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											GGAGGAGAAGAAAACCTTGAA	0.463																																																	0													121	136	131					20																	57564664		2203	4300	6503	SO:0001583	missense	0			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.653A>C	20.37:g.57564664A>C	ENSP00000342300:p.Glu218Ala		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.E227A	ENST00000344018.3	37	c.680		20	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700652	0.68501	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.051210	0.85682	D	0.000000	T	0.60958	0.2309	M	0.77616	2.38	0.54753	D	0.999986	P;B;B	0.47484	0.896;0.011;0.089	B;B;B	0.43838	0.433;0.057;0.063	T	0.61628	-0.7024	9	0.20519	T	0.43	-22.0196	14.5927	0.68378	1.0:0.0:0.0:0.0	.	218;227;218	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	A	218	.	ENSP00000342300:E218A	E	+	2	0	TH1L	56998059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.194000	0.70268	0.533000	0.62120	GAA	NELFCD	-	pfam_TH1	ENSG00000101158		0.463	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	NELFCD	HGNC	protein_coding		-	0	89	0	A	NM_198976		57564664	1	tier1	-	no_errors	ENST00000602795	ensembl	human	known	74_37	missense	19.61	82	20	SNP	1.000	C	C	57564664	A	C	57564664	3	2	5	1	0	0	0	0	1	0	0	0	15886	246	9	4	675	4	TH1L	20	57564664	Missense_Mutation	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	8332063	57564664	5460856	196	1460											
COL18A1	80781	genome.wustl.edu	37	chr21	46925782	46925782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctacacgccaggccatgCtgggccaggtgcacgaggtt	7	6	16	12	2	0	0	0	0	0	0	0	1	0	0	3	5	3	4	3	5	1	2			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr21:46925782C>T	ENST00000359759.4	+	36	4384	c.4363C>T	c.(4363-4365)Ctg>Ttg	p.L1455L	COL18A1_ENST00000355480.5_Silent_p.L1220L|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1040L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1455	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCAGGCCATGCTGGGCCAGGT	0.672																																																	0													59	66	64					21																	46925782		2026	4166	6192	SO:0001819	synonymous_variant	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4363C>T	21.37:g.46925782C>T			A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.L1455	ENST00000359759.4	37	c.4363		21																																																																																			COL18A1	-	pfam_Collagenase_NC10/endostatin	ENSG00000182871		0.672	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	72	0	C			46925782	1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.620	T	T	46925782	C	T	46925782	2	4	5	1	0	0	0	0	0	0	0	1	3682	796	28	3		3	COL18A1	21	46925782	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09		46925782	1204113	197	1461											
ADORA2A	135	genome.wustl.edu	37	chr22	24836614	24836614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatctgctgggtgctgtcGtttgccatcggcctgactcc	3	12	12	14	2	1	1	0	1	1	0	4	1	2	1	4	2	3	3	4	2	0	1	rs201432461		TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:24836614G>A	ENST00000337539.7	+	3	855	c.396G>A	c.(394-396)tcG>tcA	p.S132S	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	132					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GGGTGCTGTCGTTTGCCATCG	0.597																																																	0													171	161	164					22																	24836614		2203	4300	6503	SO:0001819	synonymous_variant	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.396G>A	22.37:g.24836614G>A			B2R7E0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.S132	ENST00000337539.7	37	c.396	CCDS13826.1	22																																																																																			ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000128271		0.597	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2	-	0	74	0	G	NM_000675		24836614	1	tier1	rs201432461	no_errors	ENST00000337539	ensembl	human	known	74_37	silent	33.33	44	22	SNP	0.415	A	A	24836614	G	A	24836614	2	1	5	1	0	0	0	0	0	0	0	1	327	1132	40	1		1	ADORA2A	22	24836614	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		24836614	26467952	198	1462											
TPST2	8459	genome.wustl.edu	37	chr22	26937050	26937050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggaggcccggccgtcccGcaccatcagcaggaacttgg	8	4	13	16	4	1	0	1	0	0	0	2	2	2	2	4	5	2	2	4	5	1	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:26937050G>A	ENST00000338754.4	-	3	817	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	TPST2_ENST00000403880.1_Missense_Mutation_p.R183W|TPST2_ENST00000398110.2_Missense_Mutation_p.R183W	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	183					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGCCGTCCCGCACCATCAGC	0.607																																																	0													86	69	75					22																	26937050		2203	4300	6503	SO:0001583	missense	0			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"Sulfotransferases, membrane-bound"	12021	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog B (Drosophila)"	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.547C>T	22.37:g.26937050G>A	ENSP00000339813:p.Arg183Trp		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R183W	ENST00000338754.4	37	c.547	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079586	0.76528	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868	T;T;T	0.79940	-1.32;-1.32;-1.32	5.01	3.98	0.46160	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000003	D	0.92338	0.7569	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93862	0.7154	10	0.87932	D	0	-29.0867	12.8514	0.57860	0.0796:0.0:0.9204:0.0	.	183	O60704	TPST2_HUMAN	W	183;183;183;116	ENSP00000339813:R183W;ENSP00000381180:R183W;ENSP00000385192:R183W	ENSP00000339813:R183W	R	-	1	2	TPST2	25267050	1.000000	0.71417	0.951000	0.38953	0.750000	0.42670	5.933000	0.70130	1.099000	0.41499	0.609000	0.83330	CGG	TPST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000128294		0.607	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	-	0	60	0	G	NM_003595		26937050	-1	tier1	-	no_errors	ENST00000338754	ensembl	human	known	74_37	missense	55.81	19	24	SNP	1.000	A	A	26937050	G	A	26937050	3	1	5	1	0	0	0	0	1	0	0	0	16476	1086	38	1	602	1	TPST2	22	26937050	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	2100436	26937050	24367516	199	1463											
AP1B1	162	genome.wustl.edu	37	chr22	29750649	29750649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagtaccttttctgcaCgatgagattgatgttgcgca	9	13	9	10	2	2	2	1	2	1	1	2	4	2	2	2	0	3	4	2	0	1	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:29750649C>T	ENST00000405198.1	-	6	959	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	AP1B1_ENST00000432560.2_Missense_Mutation_p.V310M|AP1B1_ENST00000317368.7_Missense_Mutation_p.V310M|AP1B1_ENST00000402502.1_Missense_Mutation_p.V310M|AP1B1_ENST00000357586.2_Missense_Mutation_p.V310M|AP1B1_ENST00000415447.1_Missense_Mutation_p.V310M|AP1B1_ENST00000356015.2_Missense_Mutation_p.V310M			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	310					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTTTCTGCACGATGAGATTG	0.592																																																	0													139	109	119					22																	29750649		2203	4300	6503	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.928G>A	22.37:g.29750649C>T	ENSP00000384194:p.Val310Met		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.V310M	ENST00000405198.1	37	c.928	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530160	0.85706	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49;2.49	4.75	4.75	0.60458	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.116529	0.64402	D	0.000016	T	0.41581	0.1165	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.988;0.974;1.0;1.0	P;P;D;D	0.97110	0.458;0.458;0.996;1.0	T	0.43130	-0.9410	10	0.87932	D	0	-20.1713	17.5237	0.87793	0.0:1.0:0.0:0.0	.	310;310;310;310	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	M	310	ENSP00000350199:V310M;ENSP00000348297:V310M;ENSP00000400065:V310M;ENSP00000384194:V310M;ENSP00000319361:V310M;ENSP00000386071:V310M;ENSP00000387612:V310M;ENSP00000400022:V310M	ENSP00000319361:V310M	V	-	1	0	AP1B1	28080649	1.000000	0.71417	0.995000	0.50966	0.908000	0.53690	7.651000	0.83577	2.487000	0.83934	0.591000	0.81541	GTG	AP1B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,smart_Armadillo,pirsf_AP_complex_bsu_1_2_4	ENSG00000100280		0.592	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	-	0	55	0	C	NM_001127		29750649	-1	tier1	-	no_errors	ENST00000357586	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	29750649	C	T	29750649	3	4	5	1	0	0	0	0	1	0	0	0	731	536	19	1	1989	1	AP1B1	22	29750649	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	2813599	29750649	21553917	200	1464											
PES1	23481	genome.wustl.edu	37	chr22	30977532	30977532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccttcgggggatagtggaGgttgagcaactggtaaaggc	10	9	16	6	1	0	1	0	1	0	0	1	3	0	3	1	6	3	3	1	6	5	5			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:30977532G>T	ENST00000405677.1	-	9	1256	c.313C>A	c.(313-315)Ctc>Atc	p.L105I	PES1_ENST00000402284.3_Missense_Mutation_p.L227I|PES1_ENST00000335214.6_Missense_Mutation_p.L244I|PES1_ENST00000354694.7_Missense_Mutation_p.L244I|PES1_ENST00000402281.1_Missense_Mutation_p.L105I	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1									p.L244F(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGATAGTGGAGGTTGAGCAAC	0.622																																																	1	Substitution - Missense(1)	lung(1)											72	55	61					22																	30977532		2203	4300	6503	SO:0001583	missense	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.313C>A	22.37:g.30977532G>T	ENSP00000385654:p.Leu105Ile			Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.L244I	ENST00000405677.1	37	c.730		22	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303868	0.60305	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.60222	0.2252	M	0.74546	2.27	0.80722	D	1	B;P;B;B	0.44344	0.426;0.833;0.176;0.426	B;P;B;B	0.49085	0.21;0.6;0.067;0.21	T	0.65829	-0.6073	10	0.72032	D	0.01	-22.1619	16.5057	0.84271	0.0:0.0:1.0:0.0	.	244;227;244;244	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	I	244;105;105;227;244	ENSP00000346725:L244I;ENSP00000384366:L105I;ENSP00000385654:L105I;ENSP00000384252:L227I;ENSP00000334612:L244I	ENSP00000334612:L244I	L	-	1	0	PES1	29307532	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	6.003000	0.70701	2.431000	0.82371	0.655000	0.94253	CTC	PES1	-	pfam_Pescadillo	ENSG00000100029		0.622	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2		0	58	0	G	NM_014303		30977532	-1			no_errors	ENST00000354694	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	30977532	G	T	30977532	3	4	5	1	0	0	0	0	1	0	0	0	11772	1000	35	3	1072	3	PES1	22	30977532	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	1226883	30977532	20327034	201	1465											
LIMK2	3985	genome.wustl.edu	37	chr22	31654300	31654300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatgccaggattcccTcaccaactggtactatgaga	12	10	8	11	0	2	2	2	1	0	2	3	4	3	3	3	2	3	1	3	2	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chr22:31654300T>C	ENST00000331728.4	+	3	254	c.140T>C	c.(139-141)cTc>cCc	p.L47P	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.L26P|LIMK2_ENST00000340552.4_Missense_Mutation_p.L26P	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	47	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CAGGATTCCCTCACCAACTGG	0.522																																																	0													171	160	164					22																	31654300		2203	4300	6503	SO:0001583	missense	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.140T>C	22.37:g.31654300T>C	ENSP00000332687:p.Leu47Pro		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L47P	ENST00000331728.4	37	c.140	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686246	0.88639	.	.	ENSG00000182541	ENST00000331728;ENST00000425203;ENST00000436394;ENST00000333611;ENST00000340552	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.66	5.66	0.87406	Zinc finger, LIM-type (5);	0.062617	0.64402	N	0.000003	D	0.98375	0.9460	H	0.98238	4.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99698	1.1003	10	0.87932	D	0	-31.1655	15.0663	0.71999	0.0:0.0:0.0:1.0	.	79;26;47	F5GY29;Q7L3H5;P53671	.;.;LIMK2_HUMAN	P	47;26;79;26;26	ENSP00000332687:L47P;ENSP00000388422:L26P;ENSP00000330470:L26P;ENSP00000339916:L26P	ENSP00000332687:L47P	L	+	2	0	LIMK2	29984300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	2.154000	0.67381	0.379000	0.24179	CTC	LIMK2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000182541		0.522	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	-	0	90	0	T	NM_016733		31654300	1	tier1	-	no_errors	ENST00000331728	ensembl	human	known	74_37	missense	42.25	41	30	SNP	1.000	C	C	31654300	T	C	31654300	3	2	5	1	0	0	0	0	1	0	0	0	8831	1551	54	4	207	4	LIMK2	22	31654300	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	676768	31654300	19650266	202	1466											
SHROOM2	357	genome.wustl.edu	37	chrX	9862635	9862635	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgtccaaagccgacacGtcctccgcagagaacatcct	11	7	7	16	3	0	1	0	0	0	1	4	3	4	1	6	0	2	1	6	0	2	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:9862635G>T	ENST00000380913.3	+	4	777	c.687G>T	c.(685-687)acG>acT	p.T229T		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	229					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGCCGACACGTCCTCCGCAG	0.672																																																	0													74	56	62					X																	9862635		2203	4300	6503	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.687G>T	X.37:g.9862635G>T			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T229	ENST00000380913.3	37	c.687	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.672	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	28	0	G	NM_001649		9862635	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.276	T	T	9862635	G	T	9862635	2	4	5	1	0	0	0	0	0	0	0	1	14339	1132	40	2		2	SHROOM2	23	9862635	Silent	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09		9862635	145407925	203	1467											
TFE3	7030	genome.wustl.edu	37	chrX	48887781	48887781	+	Frame_Shift_Del	DEL	C	C	-																															cccgcagtggggacagggcaCcccccgacagtcctcccacc																										TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:48887781delC	ENST00000315869.7	-	10	1875	c.1616delG	c.(1615-1617)ggtfs	p.G539fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	539					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGACAGGGCACCCCCCGACAG	0.677			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													24	21	22					X																	48887781		2203	4295	6498	SO:0001589	frameshift_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1616delG	X.37:g.48887781delC	ENSP00000314129:p.Gly539fs		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Del	DEL	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G539fs	ENST00000315869.7	37	c.1616	CCDS14315.3	X																																																																																			TFE3	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000068323		0.677	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2		0	52	0	C	NM_006521		48887781	-1	tier1		no_errors	ENST00000315869	ensembl	human	known	74_37	frame_shift_del	6.25	45	3	DEL	0.001	-	-	48887781	C	-	48887781	7	5	5	1	0	1	0	1	0	0	0	0	15847	507	18	0	115	0	TFE3	23	48887781	Frame_Shift_Del	DEL	C	TCGA-2H-A9GJ-01A-11D-A37C-09	39025146	48887781	106382779	204	1468											
VSIG4	11326	genome.wustl.edu	37	chrX	65244939	65244939	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacagcacaaggagatgaTgaggatgatggcaaagacag	17	5	13	6	0	0	5	0	3	0	2	0	7	0	6	0	3	2	2	0	3	3	1			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:65244939T>G	ENST00000374737.4	-	6	976	c.868A>C	c.(868-870)Atc>Ctc	p.I290L	VSIG4_ENST00000455586.2_Missense_Mutation_p.I290L|VSIG4_ENST00000412866.2_Missense_Mutation_p.I196L	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	290					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGAGATGATGAGGATGATG	0.413																																																	0													120	86	98					X																	65244939		2203	4300	6503	SO:0001583	missense	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.868A>C	X.37:g.65244939T>G	ENSP00000363869:p.Ile290Leu		Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.I290L	ENST00000374737.4	37	c.868	CCDS14383.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.31|12.31	1.900343|1.900343	0.33535|0.33535	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.36520	.|1.41;1.25;1.51	4.29|4.29	3.12|3.12	0.35913|0.35913	.|.	.|0.107310	.|0.41500	.|D	.|0.000862	T|T	0.52597|0.52597	0.1744|0.1744	M|M	0.74258|0.74258	2.255|2.255	0.23003|0.23003	N|N	0.998445|0.998445	.|P;D;P;D;D	.|0.67145	.|0.901;0.996;0.904;0.978;0.994	.|P;D;P;D;D	.|0.77557	.|0.458;0.99;0.847;0.968;0.987	T|T	0.39522|0.39522	-0.9610|-0.9610	5|10	.|0.42905	.|T	.|0.14	-13.4697|-13.4697	5.6186|5.6186	0.17446|0.17446	0.0:0.1251:0.0:0.8749|0.0:0.1251:0.0:0.8749	.|.	.|196;290;280;196;290	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	P|L	216|290;290;196	.|ENSP00000363869:I290L;ENSP00000411581:I290L;ENSP00000394143:I196L	.|ENSP00000363869:I290L	H|I	-|-	2|1	0|0	VSIG4|VSIG4	65161664|65161664	1.000000|1.000000	0.71417|0.71417	0.739000|0.739000	0.30968|0.30968	0.033000|0.033000	0.12548|0.12548	1.553000|1.553000	0.36255|0.36255	0.530000|0.530000	0.28619|0.28619	-0.314000|-0.314000	0.08810|0.08810	CAT|ATC	VSIG4	-	NULL	ENSG00000155659		0.413	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	-	0	22	0	T	NM_007268		65244939	-1	tier1	-	no_errors	ENST00000374737	ensembl	human	known	74_37	missense	66.67	8	16	SNP	0.841	G	G	65244939	T	G	65244939	3	3	5	1	0	0	0	0	1	0	0	0	17274	1464	51	4	347	4	VSIG4	23	65244939	Missense_Mutation	SNP	T	TCGA-2H-A9GJ-01A-11D-A37C-09	16357158	65244939	90025621	205	1469											
MED12	9968	genome.wustl.edu	37	chrX	70361121	70361121	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcaacagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:70361121A>G	ENST00000374080.3	+	43	6341	c.6309A>G	c.(6307-6309)caA>caG	p.Q2103Q	AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000374102.1_Silent_p.Q2102Q|MED12_ENST00000333646.6_Silent_p.Q2106Q			Q93074	MED12_HUMAN	mediator complex subunit 12	2103	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.Q2103Q(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					agcagcagcaacagcaacagc	0.572			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	2	Substitution - coding silent(2)	endometrium(2)											15	22	19					X																	70361121		1904	3595	5499	SO:0001819	synonymous_variant	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6309A>G	X.37:g.70361121A>G			O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q2106	ENST00000374080.3	37	c.6318	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.572	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	-	0	55	0	A	NM_005120		70361121	1	tier1	-	no_errors	ENST00000333646	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.916	G	G	70361121	A	G	70361121	2	3	5	1	0	0	0	0	0	0	0	1	9466	40	2	4		4	MED12	23	70361121	Silent	SNP	A	TCGA-2H-A9GJ-01A-11D-A37C-09	5116182	70361121	84909439	206	1470											
TAF1	6872	genome.wustl.edu	37	chrX	70678159	70678159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgtatttcaagatgaGagcaatatgtctgtcttgga	10	14	10	7	0	4	2	1	1	3	2	4	4	4	3	1	1	1	2	1	1	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:70678159G>T	ENST00000373790.4	+	35	5055	c.5004G>T	c.(5002-5004)gaG>gaT	p.E1668D	TAF1_ENST00000423759.1_Missense_Mutation_p.E1691D|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.E1668D|TAF1_ENST00000276072.3_Missense_Mutation_p.E1689D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1668	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTCAAGATGAGAGCAATATGT	0.408																																																	0													216	179	191					X																	70678159		2203	4300	6503	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5004G>T	X.37:g.70678159G>T	ENSP00000362895:p.Glu1668Asp		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E1668D	ENST00000373790.4	37	c.5004	CCDS35325.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.82|12.82	2.051104|2.051104	0.36181|0.36181	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.09630|.	2.96;3.06;3.01;2.97|.	5.31|5.31	4.43|4.43	0.53597|0.53597	.|.	0.048769|.	0.85682|.	D|.	0.000000|.	T|T	0.40645|0.40645	0.1125|0.1125	N|N	0.14661|0.14661	0.345|0.345	0.39094|0.39094	D|D	0.961152|0.961152	B;P;P;D|.	0.56035|.	0.064;0.844;0.956;0.974|.	B;B;D;D|.	0.70487|.	0.015;0.205;0.931;0.969|.	T|T	0.31081|0.31081	-0.9956|-0.9956	10|5	0.15066|.	T|.	0.55|.	.|.	12.0501|12.0501	0.53501|0.53501	0.145:0.0:0.855:0.0|0.145:0.0:0.855:0.0	.|.	324;1668;1668;1689|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	D|I	1668;1668;1691;376;1689|323	ENSP00000362895:E1668D;ENSP00000389000:E1668D;ENSP00000406549:E1691D;ENSP00000276072:E1689D|.	ENSP00000276072:E1689D|.	E|R	+|+	3|2	2|0	TAF1|TAF1	70594884|70594884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.229000|1.229000	0.32600|0.32600	2.449000|2.449000	0.82847|0.82847	0.600000|0.600000	0.82982|0.82982	GAG|AGA	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.408	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	-	0	45	0	G	NM_004606		70678159	1	tier1	-	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	70678159	G	T	70678159	3	4	5	1	0	0	0	0	1	0	0	0	15560	933	33	3	5205	3	TAF1	23	70678159	Missense_Mutation	SNP	G	TCGA-2H-A9GJ-01A-11D-A37C-09	317038	70678159	84592401	207	1471											
CXorf41	139212	genome.wustl.edu	37	chrX	106466059	106466059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcctcaacaggttgttgCagtgaactagtggtaagcct	10	11	11	9	0	1	1	1	1	0	0	2	2	2	1	2	2	4	4	2	2	4	4			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:106466059C>T	ENST00000372453.3	+	5	479	c.417C>T	c.(415-417)tgC>tgT	p.C139C	PIH1D3_ENST00000535523.1_Silent_p.C139C|PIH1D3_ENST00000336387.4_Silent_p.C139C	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	139								p.C139C(1)									CAGGTTGTTGCAGTGAACTAG	0.358																																																	1	Substitution - coding silent(1)	lung(1)											120	113	116					X																	106466059		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"sarcoma antigen NY-SAR-97"		"chromosome X open reading frame 41"	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.417C>T	X.37:g.106466059C>T			D3DUX5|Q86WE1	Silent	SNP	pfam_PIH	p.C139	ENST00000372453.3	37	c.417	CCDS14528.1	X																																																																																			PIH1D3	-	pfam_PIH	ENSG00000080572		0.358	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D3	HGNC	protein_coding	OTTHUMT00000057832.1	-	0	44	0	C	NM_173494		106466059	1	tier1	-	no_errors	ENST00000336387	ensembl	human	known	74_37	silent	80.00	10	40	SNP	0.956	T	T	106466059	C	T	106466059	2	4	5	1	0	0	0	0	0	0	0	1	4119	718	25	3		3	CXorf41	23	106466059	Silent	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	35787900	106466059	48804501	208	1472											
CXorf48	54967	genome.wustl.edu	37	chrX	134303613	134303613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgccagtcacaacatCactactgaagtagatcgact	13	9	7	12	2	2	2	2	1	0	1	3	3	2	2	1	0	3	2	1	0	4	3			TCGA-2H-A9GJ-01A-11D-A37C-09	TCGA-2H-A9GJ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32049ca9-13a0-4177-84ec-3b6b566f034a	fe847fb1-cca3-4c85-b3a7-4c8d1d11578c	g.chrX:134303613C>A	ENST00000276241.6	-	2	410	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	CXorf48_ENST00000344129.2_Missense_Mutation_p.D62Y	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		62										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTCACAACATCACTACTGAAG	0.418																																																	0													126	91	103					X																	134303613		2203	4297	6500	SO:0001583	missense	0																														ENST00000276241.6:c.184G>T	X.37:g.134303613C>A	ENSP00000276241:p.Asp62Tyr		Q9NWY8	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.D62Y	ENST00000276241.6	37	c.184	CCDS35400.1	X	.	.	.	.	.	.	.	.	.	.	C	11.37	1.620094	0.28801	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.27256	1.68;1.68	2.48	0.582	0.17412	Nucleic acid-binding, OB-fold-like (1);	0.206073	0.24431	N	0.038581	T	0.43211	0.1237	M	0.77103	2.36	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.21177	-1.0253	10	0.87932	D	0	-20.4302	4.2575	0.10724	0.2239:0.6324:0.0:0.1436	.	62	Q8WUE5	CX048_HUMAN	Y	62	ENSP00000276241:D62Y;ENSP00000343893:D62Y	ENSP00000276241:D62Y	D	-	1	0	CXorf48	134131279	0.959000	0.32827	0.003000	0.11579	0.037000	0.13140	1.144000	0.31565	0.040000	0.15660	0.459000	0.35465	GAT	CXorf48	-	superfamily_NA-bd_OB-fold	ENSG00000169551		0.418	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXorf48	HGNC	protein_coding	OTTHUMT00000058404.1	-	0	46	0	C			134303613	-1	tier1	-	no_errors	ENST00000276241	ensembl	human	known	74_37	missense	85.71	5	30	SNP	0.013	A	A	134303613	C	A	134303613	3	1	5	1	0	0	0	0	1	0	0	0	4120	826	29	3	634	3	CXorf48	23	134303613	Missense_Mutation	SNP	C	TCGA-2H-A9GJ-01A-11D-A37C-09	27837554	134303613	20966947	209	1473											
TAS1R3	83756	genome.wustl.edu	37	chr1	1268413	1268413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagctgtgggtgtggcaggGctcagtgcccaggctccacg	6	7	17	11	1	1	0	1	0	0	0	2	1	2	0	2	4	2	4	2	4	1	0	rs370861077		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:1268413G>A	ENST00000339381.5	+	4	1420	c.1388G>A	c.(1387-1389)gGc>gAc	p.G463D		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	463					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GTGTGGCAGGGCTCAGTGCCC	0.627																																																	0								G	ASP/GLY	1,4399		0,1,2199	56	53	54		1388	-1.8	0	1		54	0,8592		0,0,4296	no	missense	TAS1R3	NM_152228.1	94	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	463/853	1268413	1,12991	2200	4296	6496	SO:0001583	missense	0			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1388G>A	1.37:g.1268413G>A	ENSP00000344411:p.Gly463Asp		Q5TA49|Q8NGW9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.G463D	ENST00000339381.5	37	c.1388	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	G	3.252	-0.153140	0.06585	2.27E-4	0.0	ENSG00000169962	ENST00000339381	D	0.87029	-2.2	4.86	-1.77	0.07982	.	5.998850	0.00447	N	0.000090	T	0.73369	0.3578	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65919	-0.6051	10	0.02654	T	1	.	12.7158	0.57113	0.192:0.0:0.808:0.0	.	463	Q7RTX0	TS1R3_HUMAN	D	463	ENSP00000344411:G463D	ENSP00000344411:G463D	G	+	2	0	TAS1R3	1258276	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.070000	0.03440	-0.187000	0.10516	-0.390000	0.06520	GGC	TAS1R3	-	superfamily_Peripla_BP_I	ENSG00000169962		0.627	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1		0	24	0	G			1268413	1			no_errors	ENST00000339381	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.000	A	A	1268413	G	A	1268413	3	1	6	1	0	0	0	0	1	0	0	0	15611	1203	42	3	1402	3	TAS1R3	1	1268413	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		1268413	247982208	1	1474											
PTCHD2	57540	genome.wustl.edu	37	chr1	11585247	11585247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagatttcccaggcaccGtgtacatctctaaagtgaag	11	10	9	11	2	1	2	0	1	1	1	3	2	2	2	3	1	1	3	3	1	5	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:11585247G>A	ENST00000294484.6	+	12	2629	c.2491G>A	c.(2491-2493)Gtg>Atg	p.V831M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V831M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	831					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCCAGGCACCGTGTACATCTC	0.582																																																	0													173	178	177					1																	11585247		2047	4168	6215	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2491G>A	1.37:g.11585247G>A	ENSP00000294484:p.Val831Met		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.V831M	ENST00000294484.6	37	c.2491	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460909	0.43736	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.91740	-2.9;-2.9	5.73	4.8	0.61643	.	0.116340	0.56097	D	0.000022	D	0.93475	0.7918	L	0.32530	0.975	0.45930	D	0.99876	D	0.89917	1.0	D	0.81914	0.995	D	0.94363	0.7589	10	0.87932	D	0	-26.3281	15.6386	0.76977	0.0:0.1377:0.8623:0.0	.	831	Q9P2K9	PTHD2_HUMAN	M	831	ENSP00000294484:V831M;ENSP00000374226:V831M	ENSP00000294484:V831M	V	+	1	0	PTCHD2	11507834	1.000000	0.71417	0.972000	0.41901	0.048000	0.14542	6.975000	0.76128	1.384000	0.46424	0.655000	0.94253	GTG	PTCHD2	-	NULL	ENSG00000204624		0.582	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2		0	39	0	G	XM_052561		11585247	1			no_errors	ENST00000294484	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.994	A	A	11585247	G	A	11585247	3	1	6	1	0	0	0	0	1	0	0	0	12775	1145	40	1	2533	1	PTCHD2	1	11585247	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	10316834	11585247	237665374	2	1475											
DNAJC16	23341	genome.wustl.edu	37	chr1	15870907	15870907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggtgtaggaattggCgtggtccatgctgggtatga	7	14	15	5	1	1	1	1	1	0	0	2	2	2	2	1	5	1	3	1	5	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:15870907C>T	ENST00000375847.3	+	5	752	c.588C>T	c.(586-588)ggC>ggT	p.G196G	DNAJC16_ENST00000375838.1_Silent_p.G196G|SCARNA21_ENST00000516057.1_RNA|DNAJC16_ENST00000375849.1_Silent_p.G196G	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	196	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TAGGAATTGGCGTGGTCCATG	0.463																																																	0													105	97	100					1																	15870907		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"Heat shock proteins / DNAJ (HSP40)"	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.588C>T	1.37:g.15870907C>T			Q68D57|Q86X32|Q8N5P4	Silent	SNP	pfam_DnaJ_domain,pfam_Thioredoxin_domain,superfamily_DnaJ_domain,superfamily_Thioredoxin-like_fold,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G196	ENST00000375847.3	37	c.588	CCDS30606.1	1																																																																																			DNAJC16	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000116138		0.463	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	-	0	43	0	C	NM_015291		15870907	1	tier1	-	no_errors	ENST00000375847	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.048	T	T	15870907	C	T	15870907	2	4	6	1	0	0	0	0	0	0	0	1	4649	755	27	1		1	DNAJC16	1	15870907	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4285660	15870907	233379714	3	1476											
UBR4	23352	genome.wustl.edu	37	chr1	19528214	19528214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtggaatacttactgAgactgcaaactgttgtaata	15	11	9	6	0	0	2	0	1	0	2	0	4	0	3	0	1	4	3	0	1	7	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:19528214A>G	ENST00000375254.3	-	2	299	c.272T>C	c.(271-273)cTc>cCc	p.L91P	UBR4_ENST00000375226.2_Missense_Mutation_p.L91P|UBR4_ENST00000375267.2_Missense_Mutation_p.L91P|UBR4_ENST00000375217.2_Missense_Mutation_p.L91P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATACTTACTGAGACTGCAAAC	0.408																																																	0													162	140	148					1																	19528214		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.272T>C	1.37:g.19528214A>G	ENSP00000364403:p.Leu91Pro		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L91P	ENST00000375254.3	37	c.272	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.260368	0.39995	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.23147	1.93;1.93;1.92;1.92	5.65	4.5	0.54988	.	0.142941	0.50627	D	0.000104	T	0.12475	0.0303	N	0.08118	0	0.80722	D	1	B	0.22604	0.072	B	0.19666	0.026	T	0.08493	-1.0719	10	0.42905	T	0.14	.	7.3472	0.26670	0.7062:0.1501:0.0:0.1436	.	91	Q5T4S7	UBR4_HUMAN	P	91	ENSP00000364403:L91P;ENSP00000364416:L91P;ENSP00000364365:L91P;ENSP00000364374:L91P	ENSP00000364365:L91P	L	-	2	0	UBR4	19400801	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.575000	0.67430	1.042000	0.40150	0.533000	0.62120	CTC	UBR4	-	NULL	ENSG00000127481		0.408	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	30	0	A	NM_020765		19528214	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	G	G	19528214	A	G	19528214	3	3	6	1	0	0	0	0	1	0	0	0	16953	304	11	4	15699	4	UBR4	1	19528214	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	3657307	19528214	229722407	4	1477											
TMCO4	255104	genome.wustl.edu	37	chr1	20021004	20021004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccggcgacacggagctgcaCcgaggatgtgcggtacacga	9	4	16	12	6	0	0	0	0	0	0	0	5	0	2	2	4	4	3	2	4	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:20021004C>T	ENST00000294543.6	-	15	1664	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TMCO4_ENST00000375127.1_Missense_Mutation_p.V475M|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Missense_Mutation_p.V435M	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	475						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CGGAGCTGCACCGAGGATGTG	0.617																																																	0													126	106	113					1																	20021004		2203	4300	6503	SO:0001583	missense	0				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1423G>A	1.37:g.20021004C>T	ENSP00000294543:p.Val475Met		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.V475M	ENST00000294543.6	37	c.1423	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776878	0.16120	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.45668	0.89;0.89;0.89	4.68	3.76	0.43208	.	1.128570	0.06832	N	0.794126	T	0.33990	0.0882	L	0.28556	0.865	0.32045	N	0.597653	B;B;P	0.36144	0.195;0.011;0.539	B;B;B	0.35073	0.111;0.033;0.195	T	0.31024	-0.9958	10	0.32370	T	0.25	-15.4086	11.0463	0.47861	0.0:0.9069:0.0:0.0931	.	59;475;435	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	M	475;475;435	ENSP00000294543:V475M;ENSP00000364269:V475M;ENSP00000364264:V435M	ENSP00000294543:V475M	V	-	1	0	TMCO4	19893591	0.741000	0.28217	0.120000	0.21714	0.036000	0.12997	4.757000	0.62213	1.102000	0.41551	0.561000	0.74099	GTG	TMCO4	-	pfam_DUF726,pfam_DUF900_hydrolase	ENSG00000162542		0.617	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1		0	41	0	C	NM_181719		20021004	-1			no_errors	ENST00000294543	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.685	T	T	20021004	C	T	20021004	3	4	6	1	0	0	0	0	1	0	0	0	16045	507	18	3	489	3	TMCO4	1	20021004	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	492790	20021004	229229617	5	1478											
TMCO4	255104	genome.wustl.edu	37	chr1	20067393	20067393	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccaggcagtactgctCacggctgtgggccagggcag	7	5	16	13	1	1	0	1	0	0	0	1	0	1	0	3	5	2	5	3	5	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:20067393C>A	ENST00000294543.6	-	11	1160	c.919G>T	c.(919-921)Gag>Tag	p.E307*	TMCO4_ENST00000375122.2_Nonsense_Mutation_p.E267*|TMCO4_ENST00000489814.1_5'Flank|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.E307*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	307						integral component of membrane (GO:0016021)		p.E307*(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTACTGCTCACGGCTGTGG	0.632																																																	1	Substitution - Nonsense(1)	lung(1)											54	47	50					1																	20067393		2203	4300	6503	SO:0001587	stop_gained	0				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.919G>T	1.37:g.20067393C>A	ENSP00000294543:p.Glu307*		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Nonsense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.E307*	ENST00000294543.6	37	c.919	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.767262	0.98477	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.6427	16.5542	0.84481	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;267	.	ENSP00000294543:E307X	E	-	1	0	TMCO4	19939980	1.000000	0.71417	0.952000	0.39060	0.847000	0.48162	7.204000	0.77872	2.506000	0.84524	0.655000	0.94253	GAG	TMCO4	-	pfam_DUF726	ENSG00000162542		0.632	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1		0	35	0	C	NM_181719		20067393	-1			no_errors	ENST00000294543	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.999	A	A	20067393	C	A	20067393	4	1	6	1	0	0	0	0	0	1	0	0	16045	835	29	3	1009	3	TMCO4	1	20067393	Nonsense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	46389	20067393	229183228	6	1479											
HSPG2	3339	genome.wustl.edu	37	chr1	22188551	22188551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccggctgtggcatctcCgtagtagccaggggcacaaa	8	7	13	13	3	1	0	0	0	1	0	3	0	2	0	3	4	1	5	3	4	3	2	rs201665758		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:22188551C>T	ENST00000374695.3	-	38	4877	c.4798G>A	c.(4798-4800)Gga>Aga	p.G1600R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1600	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGGCATCTCCGTAGTAGCCA	0.622																																																	0													75	74	75					1																	22188551		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.4798G>A	1.37:g.22188551C>T	ENSP00000363827:p.Gly1600Arg		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G1600R	ENST00000374695.3	37	c.4798	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.070506	0.93950	.	.	ENSG00000142798	ENST00000374695	T	0.66460	-0.21	5.48	5.48	0.80851	EGF-like, laminin (4);	0.000000	0.39083	N	0.001479	T	0.79621	0.4477	L	0.60904	1.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80241	-0.1464	10	0.72032	D	0.01	.	16.8781	0.86057	0.0:1.0:0.0:0.0	.	1600	P98160	PGBM_HUMAN	R	1600	ENSP00000363827:G1600R	ENSP00000363827:G1600R	G	-	1	0	HSPG2	22061138	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.166000	0.77553	2.848000	0.98002	0.655000	0.94253	GGA	HSPG2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000142798		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	47	0	C	NM_005529		22188551	-1	tier1	rs201665758	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	25.00	36	12	SNP	1.000	T	T	22188551	C	T	22188551	3	4	6	1	0	0	0	0	1	0	0	0	7457	661	23	1	8617	1	HSPG2	1	22188551	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2121158	22188551	227062070	7	1480											
CSMD2	114784	genome.wustl.edu	37	chr1	34164354	34164354	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggaagagccctcctaccGacacaggtgggcagaggccg	11	3	15	12	2	0	3	0	0	0	3	1	5	1	4	4	4	2	1	4	4	2	1	rs543673574	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:34164354G>A	ENST00000373380.1	-	3	763	c.543C>T	c.(541-543)gtC>gtT	p.V181V	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Splice_Site_p.V1308V			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1268	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V1268V(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCTCCTACCGACACAGGTGG	0.612													G|||	2	0.000399361	0.0015	0	5008	,	,		18447	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)											58	60	59					1																	34164354		2203	4300	6503	SO:0001630	splice_region_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.544+1C>T	1.37:g.34164354G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V1308	ENST00000373380.1	37	c.3924		1																																																																																			CSMD2	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.612	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0	30	0	G	NM_052896	Silent	34164354	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.345	A	A	34164354	G	A	34164354	5	1	6	1	0	0	0	0	0	0	1	0	3954	1072	37	1	6843	1	CSMD2	1	34164354	Splice_Site	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	11975803	34164354	215086267	8	1481											
PPIE	10450	genome.wustl.edu	37	chr1	40214724	40214724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctatgggaagaagttcGatgatgaaaactttatcctc	13	12	8	8	1	1	3	0	2	1	1	4	5	2	4	2	1	1	1	2	1	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:40214724G>T	ENST00000324379.5	+	8	677	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	PPIE_ENST00000372830.1_Missense_Mutation_p.D220Y|PPIE_ENST00000470213.1_Silent_p.S178S|PPIE_ENST00000356511.2_Missense_Mutation_p.D220Y	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	220	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAAGAAGTTCGATGATGAAAA	0.552																																																	0													88	84	85					1																	40214724		2203	4300	6503	SO:0001583	missense	0			AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"RNA binding motif (RRM) containing"	9258	protein-coding gene	gene with protein product	"peptidyl-prolyl cis-trans isomerase E", "cyclophilin 33", "cyclophilin E", "PPIase E", "rotamase E", "peptidylprolyl isomerase E, isoform 1"	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.658G>T	1.37:g.40214724G>T	ENSP00000312769:p.Asp220Tyr		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.D220Y	ENST00000324379.5	37	c.658	CCDS443.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227856	0.79576	.	.	ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000497370;ENST00000372835;ENST00000372830	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	4.87	4.87	0.63330	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.052701	0.85682	D	0.000000	T	0.62588	0.2440	H	0.94964	3.605	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.998;0.997	P;D;P;D	0.69307	0.897;0.963;0.879;0.915	T	0.74343	-0.3696	10	0.62326	D	0.03	-30.9549	17.7843	0.88533	0.0:0.0:1.0:0.0	.	141;220;220;220	B4E3F2;Q5TGA3;Q9UNP9-2;Q9UNP9	.;.;.;PPIE_HUMAN	Y	220;220;154;169;220	ENSP00000312769:D220Y;ENSP00000348904:D220Y;ENSP00000433475:D154Y;ENSP00000361925:D169Y;ENSP00000361918:D220Y	ENSP00000312769:D220Y	D	+	1	0	PPIE	39987311	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	9.233000	0.95337	2.550000	0.86006	0.462000	0.41574	GAT	PPIE	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pirsf_Cyclophilin-type_PPIase_E,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000084072		0.552	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIE	HGNC	protein_coding	OTTHUMT00000025642.2		0	50	0	G	NM_006112		40214724	1			no_errors	ENST00000324379	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	40214724	G	T	40214724	3	4	6	1	0	0	0	0	1	0	0	0	12364	1058	37	2	688	2	PPIE	1	40214724	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	6050370	40214724	209035897	9	1482											
RLF	6018	genome.wustl.edu	37	chr1	40704105	40704105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactctgagaaaccacactGtcatcctaaaaaggatgaat	17	9	6	9	0	2	2	1	2	1	1	3	4	3	3	2	1	2	0	2	1	6	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:40704105G>T	ENST00000372771.4	+	8	3758	c.3731G>T	c.(3730-3732)tGt>tTt	p.C1244F		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1244					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAACCACACTGTCATCCTAAA	0.398																																																	0													67	65	66					1																	40704105		2203	4300	6503	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.3731G>T	1.37:g.40704105G>T	ENSP00000361857:p.Cys1244Phe		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C1244F	ENST00000372771.4	37	c.3731	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289825	0.10567	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.13657	2.57	5.91	4.94	0.65067	.	0.322422	0.37669	N	0.001996	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.21690	-1.0238	10	0.27082	T	0.32	-10.3681	11.0516	0.47894	0.0:0.2413:0.6292:0.1295	.	937;1244	F5H2M5;Q13129	.;RLF_HUMAN	F	1244;937	ENSP00000361857:C1244F	ENSP00000361857:C1244F	C	+	2	0	RLF	40476692	0.534000	0.26362	1.000000	0.80357	0.600000	0.36913	2.040000	0.41203	2.793000	0.96121	0.655000	0.94253	TGT	RLF	-	NULL	ENSG00000117000		0.398	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1		0	20	0	G	NM_012421		40704105	1			no_errors	ENST00000372771	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.018	T	T	40704105	G	T	40704105	3	4	6	1	0	0	0	0	1	0	0	0	13434	1377	48	3	3761	3	RLF	1	40704105	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	489381	40704105	208546516	10	1483											
MAST2	23139	genome.wustl.edu	37	chr1	46494458	46494458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtatgcgggaccccagaaTacattgcgcctgaggtgatc	10	8	13	10	2	0	3	0	2	0	1	1	4	0	4	3	3	3	1	3	3	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:46494458T>G	ENST00000361297.2	+	18	2354	c.2071T>G	c.(2071-2073)Tac>Gac	p.Y691D	MAST2_ENST00000372009.2_Missense_Mutation_p.Y621D	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GACCCCAGAATACATTGCGCC	0.617																																																	0													109	110	110					1																	46494458		2021	4191	6212	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2071T>G	1.37:g.46494458T>G	ENSP00000354671:p.Tyr691Asp			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.Y691D	ENST00000361297.2	37	c.2071	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.932538	0.73442	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.59638	0.25;0.25;0.25	4.83	3.68	0.42216	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.206192	0.43110	D	0.000620	D	0.83454	0.5258	H	0.98594	4.275	0.80722	D	1	D;D;D;D	0.89917	0.982;1.0;0.998;0.999	P;D;D;D	0.85130	0.764;0.997;0.977;0.988	D	0.88069	0.2799	10	0.87932	D	0	-12.8343	10.9853	0.47518	0.0:0.0779:0.0:0.9221	.	621;365;621;691	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	D	691;621;365;576	ENSP00000354671:Y691D;ENSP00000361079:Y621D;ENSP00000361078:Y576D	ENSP00000354671:Y691D	Y	+	1	0	MAST2	46267045	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	6.212000	0.72188	1.920000	0.55613	0.459000	0.35465	TAC	MAST2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000086015		0.617	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	51	0	T	NM_015112		46494458	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	G	G	46494458	T	G	46494458	3	3	6	1	0	0	0	0	1	0	0	0	9363	1406	49	4	2141	4	MAST2	1	46494458	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	5790353	46494458	202756163	11	1484											
PARS2	25973	genome.wustl.edu	37	chr1	55224664	55224664	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatttgtcctgcagggaGagcacccggtcttcccgaag	8	9	12	12	2	2	2	1	0	1	2	4	4	4	2	3	2	2	2	3	2	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:55224664G>T	ENST00000371279.3	-	2	253	c.171C>A	c.(169-171)ctC>ctA	p.L57L		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	57					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CCTGCAGGGAGAGCACCCGGT	0.602																																																	0													41	41	41					1																	55224664		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"Aminoacyl tRNA synthetases / Class II"	30563	protein-coding gene	gene with protein product	"proline tRNA ligase 2, mitochondrial (putative)"	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.171C>A	1.37:g.55224664G>T			A8K0W4|Q9H6S5|Q9UFT1	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pfscan_aa-tRNA-synth_II,prints_Pro-tRNA-ligase_IIa	p.L57	ENST00000371279.3	37	c.171	CCDS597.1	1																																																																																			PARS2	-	pfscan_aa-tRNA-synth_II	ENSG00000162396		0.602	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARS2	HGNC	protein_coding	OTTHUMT00000027436.1	-	0	35	0	G	NM_152268		55224664	-1	tier1	-	no_errors	ENST00000371279	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.000	T	T	55224664	G	T	55224664	2	4	6	1	0	0	0	0	0	0	0	1	11506	929	33	3		3	PARS2	1	55224664	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	8730206	55224664	194025957	12	1485											
PDE4B	5142	genome.wustl.edu	37	chr1	66384385	66384385	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggtgttgctcaggaaacTtacagttaccaccactgtct	11	11	9	10	0	2	0	1	0	1	0	2	2	2	1	2	2	4	3	2	2	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:66384385T>C	ENST00000329654.4	+	3	335	c.148T>C	c.(148-150)Tta>Cta	p.L50L	PDE4B_ENST00000371049.3_Silent_p.L50L	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	50					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CTCAGGAAACTTACAGTTACC	0.468																																																	0													99	94	96					1																	66384385		2203	4300	6503	SO:0001819	synonymous_variant	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.148T>C	1.37:g.66384385T>C			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.L50	ENST00000329654.4	37	c.148	CCDS632.1	1																																																																																			PDE4B	-	NULL	ENSG00000184588		0.468	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	-	0	36	0	T	NM_002600		66384385	1	tier1	-	no_errors	ENST00000329654	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.997	C	C	66384385	T	C	66384385	2	2	6	1	0	0	0	0	0	0	0	1	11679	1606	56	4		4	PDE4B	1	66384385	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	11159721	66384385	182866236	13	1486											
PDE4B	5142	genome.wustl.edu	37	chr1	66798111	66798111	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttcagtagcaccggaatCagcggtggtagcggtgactc	9	8	13	11	3	2	1	2	1	0	0	3	2	2	2	2	4	3	3	2	4	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:66798111C>T	ENST00000329654.4	+	8	821				PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000371045.5_Silent_p.I13I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	GCACCGGAATCAGCGGTGGTA	0.522																																																	0													86	86	86					1																	66798111		2203	4300	6503	SO:0001627	intron_variant	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.635-80C>T	1.37:g.66798111C>T			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.I13	ENST00000329654.4	37	c.39	CCDS632.1	1																																																																																			PDE4B	-	NULL	ENSG00000184588		0.522	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	-	0	26	0	C	NM_002600		66798111	1	tier1	-	no_errors	ENST00000371045	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.426	T	T	66798111	C	T	66798111	1	4	6	0	1	0	0	0	0	0	0	0	11679	816	29	3		3	PDE4B	1	66798111	Intron	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	413726	66798111	182452510	14	1487											
LRRC7	57554	genome.wustl.edu	37	chr1	70488956	70488956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagaatgacccacagctgGcatggggttgtataagtggc	10	8	13	10	0	0	2	0	1	0	1	0	2	0	2	2	4	1	4	2	4	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:70488956G>A	ENST00000035383.5	+	15	1609	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	LRRC7_ENST00000310961.5_Missense_Mutation_p.A532T|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	527						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCACAGCTGGCATGGGGTTG	0.552																																																	0													98	92	94					1																	70488956		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1579G>A	1.37:g.70488956G>A	ENSP00000035383:p.Ala527Thr		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.A527T	ENST00000035383.5	37	c.1579	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893320	0.52121	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.37235	1.21;1.28	5.86	5.86	0.93980	.	0.294922	0.33753	N	0.004588	T	0.10508	0.0257	N	0.08118	0	0.80722	D	1	B	0.29432	0.244	B	0.26864	0.074	T	0.11203	-1.0597	10	0.25106	T	0.35	.	15.6849	0.77402	0.0:0.0:1.0:0.0	.	527	Q96NW7	LRRC7_HUMAN	T	532;527;350	ENSP00000309245:A532T;ENSP00000035383:A527T	ENSP00000035383:A527T	A	+	1	0	LRRC7	70261544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.453000	0.60061	2.775000	0.95449	0.585000	0.79938	GCA	LRRC7	-	NULL	ENSG00000033122		0.552	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	47	0	G	NM_020794		70488956	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	70488956	G	A	70488956	3	1	6	1	0	0	0	0	1	0	0	0	9055	1203	42	3	1637	3	LRRC7	1	70488956	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3690845	70488956	178761665	15	1488											
CRYZ	1429	genome.wustl.edu	37	chr1	75185054	75185054	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagtgaaaactctgtcaccTttctaggggaagagataaat	14	11	9	7	0	3	2	1	1	2	1	3	4	3	3	1	2	1	0	1	2	7	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:75185054T>A	ENST00000340866.5	-	4	354	c.267A>T	c.(265-267)aaA>aaT	p.K89N	CRYZ_ENST00000417775.1_Missense_Mutation_p.K89N|CRYZ_ENST00000370871.3_Missense_Mutation_p.K89N|CRYZ_ENST00000370872.3_Intron	NM_001889.3	NP_001880.2	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	89					protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270)	p.K89N(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicoumarol(DB00266)	CTCTGTCACCTTTCTAGGGGA	0.373																																																	1	Substitution - Missense(1)	lung(1)											64	62	62					1																	75185054		2203	4300	6503	SO:0001583	missense	0				CCDS665.1, CCDS44162.1, CCDS44163.1	1p31.1	2013-02-14			ENSG00000116791	ENSG00000116791			2419	protein-coding gene	gene with protein product		123691					Standard	NM_001889		Approved		uc001dgj.3	Q08257	OTTHUMG00000009620	ENST00000340866.5:c.267A>T	1.37:g.75185054T>A	ENSP00000339399:p.Lys89Asn		A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.K89N	ENST00000340866.5	37	c.267	CCDS665.1	1	.	.	.	.	.	.	.	.	.	.	T	7.701	0.693010	0.15039	.	.	ENSG00000116791	ENST00000340866;ENST00000417775;ENST00000370871;ENST00000370870;ENST00000441120	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.16	2.75	0.32379	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.249756	0.47093	D	0.000256	T	0.32164	0.0820	M	0.62723	1.935	0.42985	D	0.994472	P;P	0.48407	0.91;0.645	P;P	0.50860	0.652;0.565	T	0.06267	-1.0836	10	0.30854	T	0.27	.	9.8318	0.40946	0.0:0.1448:0.0:0.8552	.	89;89	A6NN60;Q08257	.;QOR_HUMAN	N	89	ENSP00000339399:K89N;ENSP00000399805:K89N;ENSP00000359908:K89N;ENSP00000359907:K89N;ENSP00000404289:K89N	ENSP00000339399:K89N	K	-	3	2	CRYZ	74957642	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	2.159000	0.42339	0.345000	0.23873	-0.579000	0.04138	AAA	CRYZ	-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	ENSG00000116791		0.373	CRYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYZ	HGNC	protein_coding	OTTHUMT00000026514.1		0	27	0	T			75185054	-1			no_errors	ENST00000340866	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	75185054	T	A	75185054	3	1	6	1	0	0	0	0	1	0	0	0	3929	1606	56	5	746	5	CRYZ	1	75185054	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	4696098	75185054	174065567	16	1489											
LPHN2	23266	genome.wustl.edu	37	chr1	82456713	82456713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatcagcttcagatgTgctaccagatcagcaggggc	9	8	12	12	0	3	2	3	0	0	2	3	2	3	2	2	3	4	3	2	3	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:82456713T>C	ENST00000370728.1	+	25	4909	c.4264T>C	c.(4264-4266)Tgc>Cgc	p.C1422R	LPHN2_ENST00000370725.1_Missense_Mutation_p.C1437R|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Missense_Mutation_p.C1424R|LPHN2_ENST00000370717.2_Missense_Mutation_p.C1437R|LPHN2_ENST00000319517.6_Missense_Mutation_p.C1366R|LPHN2_ENST00000370730.1_Missense_Mutation_p.C1379R|LPHN2_ENST00000359929.3_Missense_Mutation_p.C1366R|LPHN2_ENST00000335786.5_Missense_Mutation_p.C1379R|LPHN2_ENST00000271029.4_Missense_Mutation_p.C1394R|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370727.1_Missense_Mutation_p.C1394R|LPHN2_ENST00000394879.1_Missense_Mutation_p.C1424R|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370721.1_Missense_Mutation_p.C1347R			O95490	LPHN2_HUMAN	latrophilin 2	1422					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gcttcagatgtgctaccagat	0.448																																																	0													41	40	40					1																	82456713		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4264T>C	1.37:g.82456713T>C	ENSP00000359763:p.Cys1422Arg		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.C1437R	ENST00000370728.1	37	c.4309		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.71|10.71	1.426721|1.426721	0.25726|0.25726	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.	0.68624|.	-0.32;-0.34;-0.34;-0.28;-0.28;-0.23;-0.3;-0.3;-0.28;-0.23;-0.28;-0.34|.	5.67|5.67	4.51|4.51	0.55191|0.55191	.|.	0.188117|.	0.47852|.	D|.	0.000205|.	T|T	0.33411|0.33411	0.0862|0.0862	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.999994|0.999994	B;B|.	0.22746|.	0.02;0.074|.	B;B|.	0.29663|.	0.038;0.105|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.87932|.	D|.	0|.	.|.	12.6783|12.6783	0.56908|0.56908	0.0:0.0:0.138:0.862|0.0:0.0:0.138:0.862	.|.	1366;346|.	O95490-2;B3KVU1|.	.;.|.	R|A	1347;1422;1379;1394;1437;1424;1366;1366;1437;1424;1394;1379|433	ENSP00000359756:C1347R;ENSP00000359763:C1422R;ENSP00000359765:C1379R;ENSP00000359762:C1394R;ENSP00000359760:C1437R;ENSP00000359758:C1424R;ENSP00000353006:C1366R;ENSP00000322270:C1366R;ENSP00000359752:C1437R;ENSP00000378344:C1424R;ENSP00000271029:C1394R;ENSP00000337306:C1379R|.	ENSP00000271029:C1394R|.	C|V	+|+	1|2	0|0	LPHN2|LPHN2	82229301|82229301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.499000|7.499000	0.81566|0.81566	0.934000|0.934000	0.37316|0.37316	0.459000|0.459000	0.35465|0.35465	TGC|GTG	LPHN2	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000117114		0.448	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1		0	30	0	T	NM_012302		82456713	1			no_errors	ENST00000370717	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	C	C	82456713	T	C	82456713	3	2	6	1	0	0	0	0	1	0	0	0	8951	1696	59	4	4170	4	LPHN2	1	82456713	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	7271659	82456713	166793908	17	1490											
SSX2IP	117178	genome.wustl.edu	37	chr1	85136350	85136350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatcaagatatgagatactCtgttcaatattatcttctgt	12	17	6	6	0	5	3	2	2	3	2	5	4	5	3	0	0	1	1	0	0	6	6	rs376196736		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:85136350C>G	ENST00000342203.3	-	3	455	c.192G>C	c.(190-192)caG>caC	p.Q64H	SSX2IP_ENST00000437941.2_Missense_Mutation_p.Q37H|SSX2IP_ENST00000605755.1_Missense_Mutation_p.Q37H|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.Q64H	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	64					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATGAGATACTCTGTTCAATAT	0.299																																																	0													70	78	75					1																	85136350		2203	4296	6499	SO:0001583	missense	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.192G>C	1.37:g.85136350C>G	ENSP00000340279:p.Gln64His		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.Q64H	ENST00000342203.3	37	c.192	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411321	0.62399	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612;ENST00000422026	T;T	0.49432	0.78;0.78	5.18	-1.95	0.07548	.	0.054407	0.85682	D	0.000000	T	0.33294	0.0858	L	0.28608	0.87	0.41329	D	0.987222	D;D;D	0.61697	0.99;0.986;0.986	P;P;P	0.56343	0.693;0.796;0.796	T	0.33266	-0.9875	10	0.87932	D	0	0.0745	13.3925	0.60832	0.0:0.8557:0.0:0.1443	.	60;64;37	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	H	64;37;60;64;64	ENSP00000340279:Q64H;ENSP00000412781:Q37H	ENSP00000340279:Q64H	Q	-	3	2	SSX2IP	84908938	0.994000	0.37717	0.982000	0.44146	0.987000	0.75469	0.321000	0.19558	-0.700000	0.05070	-0.218000	0.12543	CAG	SSX2IP	-	pfam_Afadin/alpha-actinin-bd	ENSG00000117155		0.299	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1		0	20	0	C	NM_014021		85136350	-1			no_errors	ENST00000342203	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.994	G	G	85136350	C	G	85136350	3	3	6	1	0	0	0	0	1	0	0	0	15251	912	32	5	1700	5	SSX2IP	1	85136350	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2679637	85136350	164114271	18	1491											
LPPR4	9890	genome.wustl.edu	37	chr1	99772254	99772254	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggcagccttcgccaaacTtacgagctcaacgatctcaa	13	7	8	13	3	2	0	2	0	1	0	4	2	2	0	2	1	5	2	2	1	5	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:99772254T>G	ENST00000370185.3	+	7	2477	c.1980T>G	c.(1978-1980)acT>acG	p.T660T	LPPR4_ENST00000370184.1_Silent_p.T502T|LPPR4_ENST00000457765.1_Silent_p.T602T	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		660					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCGCCAAACTTACGAGCTCA	0.507																																																	0													71	69	70					1																	99772254		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000370185.3:c.1980T>G	1.37:g.99772254T>G			E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.T660	ENST00000370185.3	37	c.1980	CCDS757.1	1																																																																																			LPPR4	-	NULL	ENSG00000117600		0.507	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0	21	0	T			99772254	1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	silent	28.57	20	8	SNP	0.057	G	G	99772254	T	G	99772254	2	3	6	1	0	0	0	0	0	0	0	1	8962	1596	56	4		4	LPPR4	1	99772254	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	14635904	99772254	149478367	19	1492											
FRRS1	391059	genome.wustl.edu	37	chr1	100176454	100176454	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcataggttttccatGaatcaggaagattcagtcct	11	14	8	8	0	3	2	3	1	0	1	5	3	5	3	2	2	1	2	2	2	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:100176454G>T	ENST00000414213.1	-	15	2133	c.1532C>A	c.(1531-1533)tCa>tAa	p.S511*	FRRS1_ENST00000492943.1_5'Flank|FRRS1_ENST00000287474.5_Nonsense_Mutation_p.S511*			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	511	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		GGTTTTCCATGAATCAGGAAG	0.453																																																	0													90	80	83					1																	100176454		2203	4300	6503	SO:0001587	stop_gained	0			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"stromal cell derived factor receptor 2 homolog (mouse)"	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1532C>A	1.37:g.100176454G>T	ENSP00000393884:p.Ser511*		A6NLN7	Nonsense_Mutation	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.S511*	ENST00000414213.1	37	c.1532		1	.	.	.	.	.	.	.	.	.	.	G	38	7.126256	0.98081	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.61	5.61	0.85477	.	0.196968	0.42548	D	0.000691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9145	19.5966	0.95541	0.0:0.0:1.0:0.0	.	.	.	.	X	511	.	ENSP00000287474:S511X	S	-	2	0	FRRS1	99949042	1.000000	0.71417	0.011000	0.14972	0.128000	0.20619	5.098000	0.64548	2.802000	0.96397	0.655000	0.94253	TCA	FRRS1	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000156869		0.453	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		-	0	57	0	G	NM_001013660		100176454	-1	tier1	-	no_errors	ENST00000287474	ensembl	human	known	74_37	nonsense	7.14	51	4	SNP	0.268	T	T	100176454	G	T	100176454	4	4	6	1	0	0	0	0	0	1	0	0	6084	1294	45	3	360	3	FRRS1	1	100176454	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	404200	100176454	149074167	20	1493											
C1orf162	128346	genome.wustl.edu	37	chr1	112020392	112020392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcactcagatcctccaGccaaggtaagatgaccacac	13	7	6	15	0	2	3	2	1	0	2	5	3	5	3	5	1	1	1	5	1	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:112020392G>T	ENST00000343534.5	+	5	572	c.322G>T	c.(322-324)Gcc>Tcc	p.A108S	C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Missense_Mutation_p.A83S	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	108						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGATCCTCCAGCCAAGGTAAG	0.522																																																	0													105	106	105					1																	112020392		2203	4300	6503	SO:0001583	missense	0			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.322G>T	1.37:g.112020392G>T	ENSP00000344218:p.Ala108Ser		Q5QNZ1	Missense_Mutation	SNP	NULL	p.A108S	ENST00000343534.5	37	c.322	CCDS837.1	1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258484	0.39896	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	T;T	0.53206	0.63;0.68	4.17	-1.13	0.09775	.	1.237250	0.05759	N	0.604518	T	0.15176	0.0366	L	0.27053	0.805	0.09310	N	1	P	0.36392	0.551	B	0.34779	0.189	T	0.24728	-1.0152	10	0.51188	T	0.08	-0.575	7.5464	0.27770	0.5444:0.0:0.4556:0.0	.	108	Q8NEQ5	CA162_HUMAN	S	108;83	ENSP00000344218:A108S;ENSP00000358732:A83S	ENSP00000344218:A108S	A	+	1	0	C1orf162	111821915	0.003000	0.15002	0.022000	0.16811	0.333000	0.28666	0.140000	0.16056	-0.190000	0.10465	0.563000	0.77884	GCC	C1orf162	-	NULL	ENSG00000143110		0.522	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf162	HGNC	protein_coding	OTTHUMT00000032471.1		0	48	0	G	NM_174896		112020392	1			no_errors	ENST00000343534	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.021	T	T	112020392	G	T	112020392	3	4	6	1	0	0	0	0	1	0	0	0	2017	971	34	3	336	3	C1orf162	1	112020392	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	11843938	112020392	137230229	21	1494											
MOV10	4343	genome.wustl.edu	37	chr1	113231692	113231692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgcggttcccagaaaagagGagaatgaagctggggtcaga	13	6	16	6	1	1	5	1	1	0	4	2	6	2	5	1	4	2	2	1	4	4	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:113231692G>A	ENST00000413052.2	+	3	663	c.273G>A	c.(271-273)agG>agA	p.R91R	MOV10_ENST00000369644.1_Silent_p.R35R|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Silent_p.R91R|MOV10_ENST00000357443.2_Silent_p.R91R	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	91					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAGAAAAGAGGAGAATGAAGC	0.502																																																	0													95	92	93					1																	113231692		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.273G>A	1.37:g.113231692G>A			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	superfamily_P-loop_NTPase	p.R91	ENST00000413052.2	37	c.273	CCDS853.1	1																																																																																			MOV10	-	NULL	ENSG00000155363		0.502	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	-	0	61	0	G	NM_020963		113231692	1	tier1	-	no_errors	ENST00000357443	ensembl	human	known	74_37	silent	17.50	33	7	SNP	0.991	A	A	113231692	G	A	113231692	2	1	6	1	0	0	0	0	0	0	0	1	9756	1165	41	3		3	MOV10	1	113231692	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1211300	113231692	136018929	22	1495											
C1orf56	54964	genome.wustl.edu	37	chr1	151021185	151021185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaccaggaccaccactaccCccttccccaccatccacctc	9	6	3	23	0	0	0	0	0	0	0	3	1	2	1	10	1	2	1	10	1	2	3	rs1132889	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:151021185C>T	ENST00000368926.5	+	1	970	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	288						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CACCACTACCCCCTTCCCCAC	0.617											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)												0													132	139	137					1																	151021185		2203	4300	6503	SO:0001583	missense	0			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.862C>T	1.37:g.151021185C>T	ENSP00000357922:p.Pro288Ser	1737	B2RDU8|Q9NWZ4	Missense_Mutation	SNP	superfamily_Thrombospondin_1_rpt	p.P288S	ENST00000368926.5	37	c.862	CCDS980.1	1	.	.	.	.	.	.	.	.	.	.	C	6.207	0.406295	0.11754	.	.	ENSG00000143443	ENST00000368926	.	.	.	3.25	-5.11	0.02901	.	1.570890	0.03719	N	0.251553	T	0.03783	0.0107	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16424	-1.0403	9	0.13853	T	0.58	-0.8005	6.3146	0.21184	0.2662:0.5421:0.0:0.1917	.	288	Q9BUN1	CA056_HUMAN	S	288	.	ENSP00000357922:P288S	P	+	1	0	C1orf56	149287809	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.385000	0.01062	-0.985000	0.03503	-0.423000	0.05987	CCC	C1orf56	-	NULL	ENSG00000143443		0.617	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1		0	36	0	C	NM_017860		151021185	1			no_errors	ENST00000368926	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.000	T	T	151021185	C	T	151021185	3	4	6	1	0	0	0	0	1	0	0	0	2055	623	22	3	864	3	C1orf56	1	151021185	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	37789493	151021185	98229436	23	1496											
HRNR	388697	genome.wustl.edu	37	chr1	152192299	152192299	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagaggaatgacccgagctAgatccgtgttgaccgtagcc	10	8	13	10	3	0	4	0	2	0	2	1	6	1	5	4	1	2	4	4	1	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:152192299A>T	ENST00000368801.2	-	3	1881	c.1806T>A	c.(1804-1806)tcT>tcA	p.S602S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	602					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCGAGCTAGATCCGTGTT	0.562																																																	0													262	231	241					1																	152192299		2203	4299	6502	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1806T>A	1.37:g.152192299A>T			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S602	ENST00000368801.2	37	c.1806	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	92	0	A	XM_373868		152192299	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	34.96	79	43	SNP	0.003	T	T	152192299	A	T	152192299	2	4	6	1	0	0	0	0	0	0	0	1	7386	407	15	5		5	HRNR	1	152192299	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1171114	152192299	97058322	24	1497											
FLG	2312	genome.wustl.edu	37	chr1	152283719	152283719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagtttgtctgcttgcacTtctggatcctgactgcccat	6	14	9	12	1	2	1	0	1	2	0	3	3	3	2	2	1	3	3	2	1	0	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:152283719T>G	ENST00000368799.1	-	3	3678	c.3643A>C	c.(3643-3645)Agt>Cgt	p.S1215R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1215	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.552									Ichthyosis																																								0													355	350	351					1																	152283719		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3643A>C	1.37:g.152283719T>G	ENSP00000357789:p.Ser1215Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1215R	ENST00000368799.1	37	c.3643	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235137	0.05983	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	0.835	-0.724	0.11177	.	.	.	.	.	T	0.00784	0.0026	M	0.73962	2.25	0.09310	N	1	P	0.39520	0.676	B	0.39706	0.307	T	0.43442	-0.9391	9	0.15952	T	0.53	.	3.4165	0.07377	0.0:0.6402:0.0:0.3598	.	1215	P20930	FILA_HUMAN	R	1215	ENSP00000357789:S1215R	ENSP00000357789:S1215R	S	-	1	0	FLG	150550343	.	.	0.002000	0.10522	0.123000	0.20343	.	.	-0.179000	0.10654	0.156000	0.16432	AGT	FLG	-	NULL	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	144	0	T	NM_002016		152283719	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	11.18	143	18	SNP	0.001	G	G	152283719	T	G	152283719	3	3	6	1	0	0	0	0	1	0	0	0	5944	1609	56	4	8546	4	FLG	1	152283719	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	91420	152283719	96966902	25	1498											
HAX1	10456	genome.wustl.edu	37	chr1	154247904	154247904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggactgtggtggacagtgaGggccggacagagactacagt	10	6	17	8	2	0	2	0	1	0	1	0	6	0	5	1	5	1	0	1	5	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:154247904G>T	ENST00000328703.7	+	6	912	c.699G>T	c.(697-699)gaG>gaT	p.E233D	HAX1_ENST00000532105.1_Missense_Mutation_p.E105D|HAX1_ENST00000483970.2_Missense_Mutation_p.E241D|HAX1_ENST00000457918.2_Missense_Mutation_p.E185D	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	233	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGACAGTGAGGGCCGGACAG	0.488									Kostmann syndrome																																								0													149	156	154					1																	154247904		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.699G>T	1.37:g.154247904G>T	ENSP00000329002:p.Glu233Asp		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	pirsf_HS1--assoc_X-1	p.E241D	ENST00000328703.7	37	c.723	CCDS1064.1	1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.116778	0.56505	.	.	ENSG00000143575	ENST00000328703;ENST00000457918;ENST00000483970;ENST00000435087;ENST00000532105	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.13	-0.166	0.13351	.	0.419994	0.24220	N	0.040444	T	0.78444	0.4284	M	0.69248	2.105	0.34580	D	0.714369	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.993;0.995;0.998;0.995	T	0.74624	-0.3603	10	0.56958	D	0.05	-3.9866	4.0211	0.09665	0.3488:0.0:0.495:0.1562	.	241;207;185;233	O00165-2;O00165-3;O00165-5;O00165	.;.;.;HAX1_HUMAN	D	233;185;241;237;105	ENSP00000329002:E233D;ENSP00000411448:E185D;ENSP00000435088:E241D;ENSP00000394920:E237D;ENSP00000433951:E105D	ENSP00000329002:E233D	E	+	3	2	HAX1	152514528	0.996000	0.38824	0.994000	0.49952	0.812000	0.45895	0.238000	0.18004	-0.064000	0.13043	-0.253000	0.11424	GAG	HAX1	-	pirsf_HS1--assoc_X-1	ENSG00000143575		0.488	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1	-	0	54	0	G	NM_006118		154247904	1	tier1	-	no_errors	ENST00000483970	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.996	T	T	154247904	G	T	154247904	3	4	6	1	0	0	0	0	1	0	0	0	7002	991	35	3	721	3	HAX1	1	154247904	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1964185	154247904	95002717	26	1499											
ASH1L	55870	genome.wustl.edu	37	chr1	155450308	155450308	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagagatggagctgtggAtttgctcaactttggcaatc	11	11	12	7	0	1	1	1	0	0	1	2	4	1	3	0	3	4	4	0	3	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:155450308A>G	ENST00000368346.3	-	3	2992	c.2353T>C	c.(2353-2355)Tcc>Ccc	p.S785P	ASH1L_ENST00000392403.3_Missense_Mutation_p.S785P			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	785					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGAGCTGTGGATTTGCTCAAC	0.403																																																	0													156	154	155					1																	155450308		2203	4298	6501	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2353T>C	1.37:g.155450308A>G	ENSP00000357330:p.Ser785Pro		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.S785P	ENST00000368346.3	37	c.2353		1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.407894	0.25378	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89939	-2.59;-2.59	5.44	5.44	0.79542	.	0.206894	0.35124	N	0.003438	T	0.69744	0.3145	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.10450	0.002;0.005	T	0.69343	-0.5170	10	0.42905	T	0.14	.	10.673	0.45770	0.7197:0.2803:0.0:0.0	.	785;785	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	P	785	ENSP00000357330:S785P;ENSP00000376204:S785P	ENSP00000357330:S785P	S	-	1	0	ASH1L	153716932	0.972000	0.33761	0.997000	0.53966	0.994000	0.84299	0.623000	0.24447	2.287000	0.76781	0.528000	0.53228	TCC	ASH1L	-	NULL	ENSG00000116539		0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0	40	0	A	NM_018489		155450308	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	7.84	46	4	SNP	0.995	G	G	155450308	A	G	155450308	3	3	6	1	0	0	0	0	1	0	0	0	1042	333	12	4	6645	4	ASH1L	1	155450308	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1202404	155450308	93800313	27	1500											
SSR2	6746	genome.wustl.edu	37	chr1	155979398	155979398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accacaatagcagggggatgCcgatggagggaagggtcatg	12	5	17	7	1	1	0	1	0	0	0	1	4	1	3	2	5	2	1	2	5	3	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:155979398C>T	ENST00000295702.4	-	6	556	c.485G>A	c.(484-486)gGc>gAc	p.G162D	SSR2_ENST00000496742.1_3'UTR|SSR2_ENST00000480567.1_Missense_Mutation_p.G162D|SSR2_ENST00000529008.1_3'UTR	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	162					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G162D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGGGGATGCCGATGGAGGG	0.517																																																	1	Substitution - Missense(1)	lung(1)											123	112	116					1																	155979398		2203	4300	6503	SO:0001583	missense	0			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.485G>A	1.37:g.155979398C>T	ENSP00000295702:p.Gly162Asp		B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Missense_Mutation	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.G162D	ENST00000295702.4	37	c.485	CCDS1126.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.250791	0.95305	.	.	ENSG00000163479	ENST00000295702;ENST00000480567	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.65688	0.2715	L	0.59436	1.845	0.80722	D	1	D	0.57257	0.979	P	0.58780	0.845	T	0.63251	-0.6679	9	0.38643	T	0.18	-15.6569	15.6578	0.77155	0.0:1.0:0.0:0.0	.	162	P43308	SSRB_HUMAN	D	162	.	ENSP00000295702:G162D	G	-	2	0	SSR2	154246022	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.548000	0.73896	2.767000	0.95098	0.655000	0.94253	GGC	SSR2	-	pfam_TRAP_beta,pirsf_TRAP_beta	ENSG00000163479		0.517	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2		0	39	0	C	NM_003145		155979398	-1			no_errors	ENST00000295702	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	155979398	C	T	155979398	3	4	6	1	0	0	0	0	1	0	0	0	15238	739	26	3	70	3	SSR2	1	155979398	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	529090	155979398	93271223	28	1501											
GPATCH4	54865	genome.wustl.edu	37	chr1	156565052	156565052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggttccaccacctaaaagTttcctcacctctatcttcta	9	14	3	15	0	4	0	1	0	3	0	6	0	6	0	5	1	0	2	5	1	4	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:156565052T>A	ENST00000438976.2	-	8	1111	c.1081A>T	c.(1081-1083)Act>Tct	p.T361S	GPATCH4_ENST00000368232.4_Missense_Mutation_p.T356S|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	356							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCTAAAAGTTTCCTCACCT	0.512																																																	0													191	191	191					1																	156565052		2203	4300	6503	SO:0001583	missense	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.1081A>T	1.37:g.156565052T>A	ENSP00000396441:p.Thr361Ser		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.T361S	ENST00000438976.2	37	c.1081	CCDS44245.1	1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515900	0.27123	.	.	ENSG00000160818	ENST00000368232;ENST00000368229;ENST00000438976	.	.	.	4.23	-2.65	0.06095	.	0.922459	0.08880	N	0.880267	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.22003	0.063;0.063	B;B	0.19666	0.026;0.026	T	0.32666	-0.9898	9	0.25106	T	0.35	-9.1235	12.933	0.58296	0.0:0.8006:0.0:0.1994	.	361;356	E9PAV9;Q5T3I0	.;GPTC4_HUMAN	S	356;356;361	.	ENSP00000357212:T356S	T	-	1	0	GPATCH4	154831676	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.744000	0.04839	-0.478000	0.06823	0.455000	0.32223	ACT	GPATCH4	-	NULL	ENSG00000160818		0.512	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1		0	31	0	T	NM_017725		156565052	-1			no_errors	ENST00000438976	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.001	A	A	156565052	T	A	156565052	3	1	6	1	0	0	0	0	1	0	0	0	6619	1725	60	5	50	5	GPATCH4	1	156565052	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	585654	156565052	92685569	29	1502											
OR10X1	128367	genome.wustl.edu	37	chr1	158549657	158549657	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgtttgaatgtctgaaatTtgaaagaaacaacaataaac	19	11	6	5	1	1	4	0	3	1	1	2	4	1	4	0	0	3	1	0	0	8	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:158549657T>G	ENST00000368150.1	-	1	32	c.33A>C	c.(31-33)caA>caC	p.Q11H		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGTCTGAAATTTGAAAGAAAC	0.323																																																	0													95	95	95					1																	158549657		2203	4300	6503	SO:0001583	missense	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.33A>C	1.37:g.158549657T>G	ENSP00000357132:p.Gln11His		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q11H	ENST00000368150.1	37	c.33	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076358	0.07184	.	.	ENSG00000186400	ENST00000368150	T	0.00004	9.81	3.98	-5.83	0.02325	.	3.942700	0.01037	N	0.004250	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.01853	-1.1260	10	0.15066	T	0.55	.	2.631	0.04945	0.1172:0.3127:0.3651:0.205	.	11	Q8NGY0	O10X1_HUMAN	H	11	ENSP00000357132:Q11H	ENSP00000357132:Q11H	Q	-	3	2	OR10X1	156816281	0.000000	0.05858	0.001000	0.08648	0.080000	0.17528	-1.214000	0.02988	-1.391000	0.02085	-1.166000	0.01754	CAA	OR10X1	-	NULL	ENSG00000186400		0.323	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0	21	0	T	NM_001004477		158549657	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.000	G	G	158549657	T	G	158549657	3	3	6	1	0	0	0	0	1	0	0	0	10961	1838	64	4	942	4	OR10X1	1	158549657	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1984605	158549657	90700964	30	1503											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576679	158576679	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcattacttccttcctgActggatacctctttggactg	6	16	8	11	0	2	1	1	1	1	0	4	3	4	3	3	3	2	0	3	3	2	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:158576679A>T	ENST00000361284.1	+	1	451	c.451A>T	c.(451-453)Act>Tct	p.T151S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTCCTTCCTGACTGGATACCT	0.493																																																	0													100	97	98					1																	158576679		2203	4300	6503	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.451A>T	1.37:g.158576679A>T	ENSP00000354707:p.Thr151Ser		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T151S	ENST00000361284.1	37	c.451	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.790001	0.00623	.	.	ENSG00000198967	ENST00000361284	T	0.37058	1.22	5.36	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	1.226290	0.05846	N	0.620267	T	0.03520	0.0101	N	0.01529	-0.815	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33599	-0.9862	10	0.18710	T	0.47	.	4.0578	0.09824	0.4444:0.0:0.388:0.1676	.	151	Q8NGY1	O10Z1_HUMAN	S	151	ENSP00000354707:T151S	ENSP00000354707:T151S	T	+	1	0	OR10Z1	156843303	0.000000	0.05858	0.095000	0.20976	0.059000	0.15707	0.039000	0.13884	0.071000	0.16664	0.533000	0.62120	ACT	OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.493	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1		0	30	0	A	NM_001004478		158576679	1			no_errors	ENST00000361284	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.002	T	T	158576679	A	T	158576679	3	4	6	1	0	0	0	0	1	0	0	0	10962	275	10	5	453	5	OR10Z1	1	158576679	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	27022	158576679	90673942	31	1504											
SPTA1	6708	genome.wustl.edu	37	chr1	158584081	158584081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctttagagtctcttcactCacacctttgatgtccctgaa	8	15	5	13	0	3	3	2	2	1	1	6	3	5	3	3	0	0	0	3	0	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:158584081C>T	ENST00000368147.4	-	49	6984	c.6804G>A	c.(6802-6804)gtG>gtA	p.V2268V	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2268					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTCTTCACTCACACCTTTGA	0.338																																																	0													74	72	73					1																	158584081		1807	4064	5871	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6804G>A	1.37:g.158584081C>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.V2268	ENST00000368147.4	37	c.6804	CCDS41423.1	1																																																																																			SPTA1	-	NULL	ENSG00000163554		0.338	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	50	0	C	NM_003126		158584081	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	18.18	71	16	SNP	1.000	T	T	158584081	C	T	158584081	2	4	6	1	0	0	0	0	0	0	0	1	15163	813	29	3		3	SPTA1	1	158584081	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	7402	158584081	90666540	32	1505											
MNDA	4332	genome.wustl.edu	37	chr1	158815416	158815416	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacggcaggtggatgcaagaAgaaatgttccccaaaacgac	16	5	11	9	2	0	2	0	0	0	2	1	4	1	3	2	3	3	3	2	3	6	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:158815416A>C	ENST00000368141.4	+	5	871	c.610A>C	c.(610-612)Aga>Cga	p.R204R		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	204	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GGATGCAAGAAGAAATGTTCC	0.488																																																	0													60	59	60					1																	158815416		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.610A>C	1.37:g.158815416A>C				Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.R204	ENST00000368141.4	37	c.610	CCDS1177.1	1																																																																																			MNDA	-	pfscan_HIN200/IF120x	ENSG00000163563		0.488	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	-	0	40	0	A	NM_002432		158815416	1	tier1	-	no_errors	ENST00000368141	ensembl	human	known	74_37	silent	36.54	33	19	SNP	0.000	C	C	158815416	A	C	158815416	2	2	6	1	0	0	0	0	0	0	0	1	9714	64	3	4		4	MNDA	1	158815416	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	231335	158815416	90435205	33	1506											
SLAMF9	89886	genome.wustl.edu	37	chr1	159922241	159922241	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catatccatgcctgccttctCcacagagcacaccagggaca	11	7	7	16	0	1	1	0	0	1	1	3	2	2	2	5	1	3	1	5	1	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:159922241C>A	ENST00000368093.3	-	3	591	c.475G>T	c.(475-477)Gag>Tag	p.E159*	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	159	Ig-like C2-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGCCTTCTCCACAGAGCAC	0.567																																																	0													147	140	142					1																	159922241		2203	4300	6503	SO:0001587	stop_gained	0			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"Immunoglobulin superfamily / V-set domain containing"	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.475G>T	1.37:g.159922241C>A	ENSP00000357072:p.Glu159*		Q5JRQ9|Q5JRR0|Q6UWG1	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.E159*	ENST00000368093.3	37	c.475	CCDS1191.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.356798	0.97502	.	.	ENSG00000162723	ENST00000368093	.	.	.	4.89	3.96	0.45880	.	0.583578	0.17793	N	0.161824	.	.	.	.	.	.	0.21579	N	0.999636	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.5764	9.458	0.38767	0.0:0.8992:0.0:0.1008	.	.	.	.	X	159	.	.	E	-	1	0	SLAMF9	158188865	0.016000	0.18221	0.159000	0.22649	0.907000	0.53573	1.489000	0.35562	1.027000	0.39758	0.650000	0.86243	GAG	SLAMF9	-	pfscan_Ig-like_dom	ENSG00000162723		0.567	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF9	HGNC	protein_coding	OTTHUMT00000060630.1		0	16	0	C	NM_033438		159922241	-1			no_errors	ENST00000368093	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	0.017	A	A	159922241	C	A	159922241	4	1	6	1	0	0	0	0	0	1	0	0	14416	864	30	3	402	3	SLAMF9	1	159922241	Nonsense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1106825	159922241	89328380	34	1507											
SELP	6403	genome.wustl.edu	37	chr1	169588459	169588459	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctatttggcagttggccTgaaacaagaagagaaaactt	14	10	11	6	0	0	3	0	1	0	2	0	4	0	3	1	3	2	3	1	3	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:169588459T>C	ENST00000263686.6	-	2	41		c.e2-2		SELP_ENST00000367792.2_Splice_Site|SELP_ENST00000367788.2_Splice_Site|SELP_ENST00000367794.2_Splice_Site|SELP_ENST00000367791.2_Splice_Site|SELP_ENST00000367793.2_Splice_Site|SELP_ENST00000367786.2_Splice_Site|SELP_ENST00000458599.2_Splice_Site	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCAGTTGGCCTGAAACAAGAA	0.388																																																	0													82	82	82					1																	169588459		2203	4300	6503	SO:0001630	splice_region_variant	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.4-2A>G	1.37:g.169588459T>C			Q5R344|Q8IVD1	Splice_Site	SNP	-	e2-2	ENST00000263686.6	37	c.4-2	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	T	8.216	0.801478	0.16397	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0378	0.47811	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SELP	167855083	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	3.669000	0.54561	2.162000	0.67917	0.533000	0.62120	.	SELP	-	-	ENSG00000174175		0.388	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4		0	38	0	T	NM_003005	Intron	169588459	-1			no_errors	ENST00000263686	ensembl	human	known	74_37	splice_site	11.11	32	4	SNP	1.000	C	C	169588459	T	C	169588459	5	2	6	1	0	0	0	0	0	0	1	0	14064	1594	55	4	2550	4	SELP	1	169588459	Splice_Site	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	9666218	169588459	79662162	35	1508											
C1orf129	80133	genome.wustl.edu	37	chr1	170928680	170928680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgctagttgtcatgcCaagtcttgacaaagtaaaag	14	11	10	6	0	2	1	1	1	1	0	2	2	2	2	1	1	2	3	1	1	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:170928680C>A	ENST00000367758.3	+	5	329	c.230C>A	c.(229-231)cCa>cAa	p.P77Q	MROH9_ENST00000367759.4_Missense_Mutation_p.P77Q	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	77																	GTTGTCATGCCAAGTCTTGAC	0.358																																																	0													121	114	116					1																	170928680		1851	4108	5959	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.230C>A	1.37:g.170928680C>A	ENSP00000356732:p.Pro77Gln		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P77Q	ENST00000367758.3	37	c.230	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773358	0.69992	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.70749	0.73;-0.51	5.61	5.61	0.85477	.	0.000000	0.56097	D	0.000024	T	0.77961	0.4209	M	0.67953	2.075	0.23751	N	0.996949	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.72527	-0.4266	10	0.87932	D	0	-11.3744	15.4923	0.75619	0.0:1.0:0.0:0.0	.	77;77	F5GWX6;Q5TGP6	.;CA129_HUMAN	Q	77	ENSP00000356733:P77Q;ENSP00000356732:P77Q	ENSP00000356732:P77Q	P	+	2	0	C1orf129	169195304	0.257000	0.24022	0.296000	0.24974	0.170000	0.22686	3.389000	0.52516	2.793000	0.96121	0.655000	0.94253	CCA	MROH9	-	NULL	ENSG00000117501		0.358	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1	-	0	32	0	C	NM_025063		170928680	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	17.46	52	11	SNP	0.378	A	A	170928680	C	A	170928680	3	1	6	1	0	0	0	0	1	0	0	0	2003	594	21	3	244	3	C1orf129	1	170928680	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1340221	170928680	78321941	36	1509											
TNN	63923	genome.wustl.edu	37	chr1	175092723	175092723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgggcctgagaccaggCatggagtacatggtgcacgt	9	7	15	10	2	0	2	0	2	0	1	0	4	0	3	2	4	2	3	2	4	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:175092723C>T	ENST00000239462.4	+	12	2951	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	946	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGAGACCAGGCATGGAGTACA	0.627																																																	0													90	75	80					1																	175092723		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2838C>T	1.37:g.175092723C>T			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.G946	ENST00000239462.4	37	c.2838	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.627	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	60	0	C	XM_040527		175092723	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	silent	40.00	45	30	SNP	0.727	T	T	175092723	C	T	175092723	2	4	6	1	0	0	0	0	0	0	0	1	16370	697	25	3		3	TNN	1	175092723	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4164043	175092723	74157898	37	1510											
TROVE2	6738	genome.wustl.edu	37	chr1	193053775	193053775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtttcaccattgcagacCcagatgatagaggcatgttg	11	11	11	8	0	1	4	1	1	0	3	1	4	1	4	2	2	1	4	2	2	1	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:193053775C>A	ENST00000367446.3	+	9	1741	c.1531C>A	c.(1531-1533)Cca>Aca	p.P511T	TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Missense_Mutation_p.P511T|TROVE2_ENST00000367444.3_Missense_Mutation_p.P511T|TROVE2_ENST00000432079.1_Missense_Mutation_p.P236T|TROVE2_ENST00000367443.1_Missense_Mutation_p.P511T|TROVE2_ENST00000416058.2_Missense_Mutation_p.P236T|TROVE2_ENST00000367441.1_Missense_Mutation_p.P511T|TROVE2_ENST00000367445.3_Missense_Mutation_p.P511T	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	511	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CATTGCAGACCCAGATGATAG	0.358																																																	0													170	157	161					1																	193053775		1894	4117	6011	SO:0001583	missense	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1531C>A	1.37:g.193053775C>A	ENSP00000356416:p.Pro511Thr		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	pfam_TROVE,pfscan_TROVE	p.P511T	ENST00000367446.3	37	c.1531	CCDS1379.1	1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778403	0.49786	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	.	.	.	5.22	5.22	0.72569	.	0.051722	0.85682	D	0.000000	T	0.59473	0.2196	L	0.54323	1.7	0.58432	D	0.999992	P;P;D;P	0.55385	0.537;0.851;0.971;0.745	B;P;P;B	0.46975	0.313;0.533;0.476;0.357	T	0.56529	-0.7964	9	0.21540	T	0.41	-20.1881	18.7832	0.91942	0.0:1.0:0.0:0.0	.	511;511;511;511	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	T	511;236;511;511;511;511;511	.	ENSP00000356411:P511T	P	+	1	0	TROVE2	191320398	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.408000	0.59761	2.407000	0.81776	0.460000	0.39030	CCA	TROVE2	-	NULL	ENSG00000116747		0.358	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	-	0	46	0	C	NM_004600		193053775	1	tier1	-	no_errors	ENST00000367441	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	193053775	C	A	193053775	3	1	6	1	0	0	0	0	1	0	0	0	16624	623	22	3	1561	3	TROVE2	1	193053775	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	17961052	193053775	56196846	38	1511											
ASPM	259266	genome.wustl.edu	37	chr1	197091057	197091057	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagtacctgatggcgtttGagatctgtttttagtttata	9	17	11	4	1	1	2	0	2	1	1	1	4	1	3	1	2	1	4	1	2	4	8			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:197091057G>C	ENST00000367409.4	-	16	4114	c.3858C>G	c.(3856-3858)ctC>ctG	p.L1286L	ASPM_ENST00000367408.1_Silent_p.L536L|ASPM_ENST00000294732.7_Silent_p.L1286L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1286					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATGGCGTTTGAGATCTGTTT	0.308																																																	0													118	119	118					1																	197091057		2203	4299	6502	SO:0001819	synonymous_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3858C>G	1.37:g.197091057G>C			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.L1286	ENST00000367409.4	37	c.3858	CCDS1389.1	1																																																																																			ASPM	-	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS	ENSG00000066279		0.308	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0	47	0	G	NM_018136		197091057	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	silent	29.31	41	17	SNP	0.004	C	C	197091057	G	C	197091057	2	2	6	1	0	0	0	0	0	0	0	1	1057	1277	45	5		5	ASPM	1	197091057	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	4037282	197091057	52159564	39	1512											
CRB1	23418	genome.wustl.edu	37	chr1	197313525	197313525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgcccctggattcctggGggatcactgtgaactcaaca	8	10	11	12	0	2	1	2	1	0	0	3	3	3	3	3	3	3	0	3	3	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:197313525G>T	ENST00000367400.3	+	3	902	c.767G>T	c.(766-768)gGg>gTg	p.G256V	CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.G187V|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.G256V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	256	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGATTCCTGGGGGATCACTGT	0.502																																																	0													241	218	226					1																	197313525		2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.767G>T	1.37:g.197313525G>T	ENSP00000356370:p.Gly256Val		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.G256V	ENST00000367400.3	37	c.767	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822435	0.50739	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	D;D;D	0.98249	-4.82;-4.82;-4.82	5.35	3.37	0.38596	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99263	0.9743	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.97110	1.0;0.987;1.0;0.984	D	0.99066	1.0832	9	0.87932	D	0	.	15.2522	0.73556	0.0:0.2671:0.7329:0.0	.	256;187;256;281	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	V	187;256;256	ENSP00000438786:G187V;ENSP00000438091:G256V;ENSP00000356370:G256V	ENSP00000356370:G256V	G	+	2	0	CRB1	195580148	1.000000	0.71417	0.007000	0.13788	0.380000	0.30137	7.320000	0.79064	0.547000	0.28938	0.650000	0.86243	GGG	CRB1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134376		0.502	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	63	0	G	NM_201253		197313525	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	38.37	53	33	SNP	0.976	T	T	197313525	G	T	197313525	3	4	6	1	0	0	0	0	1	0	0	0	3855	1232	43	3	777	3	CRB1	1	197313525	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	222468	197313525	51937096	40	1513											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204426964	204426964	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgttgcagatggccttgacGgactggaccaccctgtcagc	7	8	13	13	2	1	2	1	1	0	1	1	4	1	4	3	3	2	2	3	3	0	2	rs533281881		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:204426964G>T	ENST00000367187.3	-	10	2161	c.1605C>A	c.(1603-1605)tcC>tcA	p.S535S	PIK3C2B_ENST00000424712.2_Silent_p.S535S|PIK3C2B_ENST00000496872.1_5'Flank	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	535					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGGCCTTGACGGACTGGACCA	0.632																																																	0													54	50	51					1																	204426964		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1605C>A	1.37:g.204426964G>T			O95666|Q5SW99	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S535	ENST00000367187.3	37	c.1605	CCDS1446.1	1																																																																																			PIK3C2B	-	NULL	ENSG00000133056		0.632	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0	39	0	G	NM_002646		204426964	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	silent	38.10	26	16	SNP	0.056	T	T	204426964	G	T	204426964	2	4	6	1	0	0	0	0	0	0	0	1	11949	1103	39	2		2	PIK3C2B	1	204426964	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	7113439	204426964	44823657	41	1514											
CR1	1378	genome.wustl.edu	37	chr1	207737337	207737337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaggggctgcgtctatgCgctgcacaccccagggagac	8	6	14	13	2	2	2	1	0	1	2	2	3	2	2	2	3	3	3	2	3	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:207737337C>G	ENST00000367049.4	+	22	3715	c.3715C>G	c.(3715-3717)Cgc>Ggc	p.R1239G	CR1_ENST00000367053.1_Missense_Mutation_p.R789G|CR1_ENST00000367051.1_Missense_Mutation_p.R789G|CR1_ENST00000400960.2_Missense_Mutation_p.R789G|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	789	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGCGTCTATGCGCTGCACACC	0.547																																																	0													36	82	71					1																	207737337		1327	4041	5368	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3715C>G	1.37:g.207737337C>G	ENSP00000356016:p.Arg1239Gly		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R1239G	ENST00000367049.4	37	c.3715	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	c	7.539	0.660294	0.14645	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	3.12	-0.123	0.13527	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.63710	0.2534	M	0.62088	1.915	0.09310	N	1	P;P	0.50819	0.71;0.939	B;P	0.55923	0.345;0.787	T	0.52555	-0.8560	9	0.23302	T	0.38	.	4.1326	0.10156	0.0:0.5622:0.1922:0.2456	.	789;1239	P17927;E9PDY4	CR1_HUMAN;.	G	789;789;789;1239	ENSP00000356018:R789G;ENSP00000356020:R789G;ENSP00000383744:R789G;ENSP00000356016:R1239G	ENSP00000356016:R1239G	R	+	1	0	CR1	205803960	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.971000	0.03806	-0.122000	0.11766	0.194000	0.17425	CGC	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.547	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	-	0	163	0	C	NM_000573		207737337	1	tier1	-	no_errors	ENST00000367049	ensembl	human	known	74_37	missense	45.41	101	84	SNP	0.003	G	G	207737337	C	G	207737337	3	3	6	1	0	0	0	0	1	0	0	0	3847	768	27	5	3801	5	CR1	1	207737337	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3310373	207737337	41513284	42	1515											
LPGAT1	9926	genome.wustl.edu	37	chr1	211952282	211952282	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatgtacatgtgtgactgTtggtttcctgtatccaagga	9	15	11	6	0	0	1	0	1	0	0	2	2	2	2	2	2	1	5	2	2	4	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:211952282T>A	ENST00000366997.4	-	6	1058	c.832A>T	c.(832-834)Aca>Tca	p.T278S	LPGAT1_ENST00000366996.1_Missense_Mutation_p.T278S	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	278					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TGTGTGACTGTTGGTTTCCTG	0.343																																																	0													172	174	173					1																	211952282		2203	4300	6503	SO:0001583	missense	0			D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"family with sequence similarity 34, member A"	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.832A>T	1.37:g.211952282T>A	ENSP00000355964:p.Thr278Ser		Q53YL2	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.T278S	ENST00000366997.4	37	c.832	CCDS31018.1	1	.	.	.	.	.	.	.	.	.	.	T	11.45	1.643122	0.29246	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	T;T	0.28895	1.59;1.59	5.89	4.77	0.60923	.	0.041576	0.85682	D	0.000000	T	0.19446	0.0467	L	0.32530	0.975	0.58432	D	0.999998	B	0.27853	0.191	B	0.20577	0.03	T	0.03524	-1.1028	10	0.08179	T	0.78	-10.5817	10.9218	0.47169	0.0:0.0748:0.0:0.9252	.	278	Q92604	LGAT1_HUMAN	S	278	ENSP00000355964:T278S;ENSP00000355963:T278S	ENSP00000355963:T278S	T	-	1	0	LPGAT1	210018905	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	2.924000	0.48876	1.085000	0.41206	0.449000	0.29647	ACA	LPGAT1	-	NULL	ENSG00000123684		0.343	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPGAT1	HGNC	protein_coding	OTTHUMT00000090150.1		0	49	0	T	NM_014873		211952282	-1			no_errors	ENST00000366997	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	211952282	T	A	211952282	3	1	6	1	0	0	0	0	1	0	0	0	8949	1725	60	5	292	5	LPGAT1	1	211952282	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	4214945	211952282	37298339	43	1516											
OBSCN	84033	genome.wustl.edu	37	chr1	228505712	228505712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggtgaggtcatctggCacaagggaatggagcgcatc	10	7	16	8	1	2	1	1	1	1	0	3	3	2	3	0	6	1	3	0	6	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:228505712C>A	ENST00000422127.1	+	53	14013	c.13969C>A	c.(13969-13971)Cac>Aac	p.H4657N	OBSCN_ENST00000366709.4_Missense_Mutation_p.H1776N|OBSCN_ENST00000570156.2_Missense_Mutation_p.H5614N|OBSCN_ENST00000366707.4_Missense_Mutation_p.H2291N|OBSCN_ENST00000284548.11_Missense_Mutation_p.H4657N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4657	Ig-like 47.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCATCTGGCACAAGGGAAT	0.637																																																	0													79	89	85					1																	228505712		2138	4241	6379	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13969C>A	1.37:g.228505712C>A	ENSP00000409493:p.His4657Asn		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.H4657N	ENST00000422127.1	37	c.13969	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	c	11.39	1.624574	0.28889	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.51	2.37	0.29283	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.009960	0.07956	N	0.981725	T	0.61640	0.2363	L	0.43152	1.355	0.27549	N	0.950545	B;B	0.34161	0.29;0.439	B;B	0.30316	0.079;0.114	T	0.52335	-0.8589	10	0.28530	T	0.3	.	4.6415	0.12550	0.536:0.3312:0.0:0.1328	.	4657;4657	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	N	4657;4657;2291;1776	ENSP00000284548:H4657N;ENSP00000409493:H4657N;ENSP00000355668:H2291N;ENSP00000355670:H1776N	ENSP00000284548:H4657N	H	+	1	0	OBSCN	226572335	0.137000	0.22531	1.000000	0.80357	0.075000	0.17131	-0.504000	0.06375	1.076000	0.40961	0.479000	0.44913	CAC	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154358		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	77	0	C	NM_052843		228505712	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	43.48	38	30	SNP	0.996	A	A	228505712	C	A	228505712	3	1	6	1	0	0	0	0	1	0	0	0	10851	710	25	3	14175	3	OBSCN	1	228505712	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	16553430	228505712	20744909	44	1517											
RYR2	6262	genome.wustl.edu	37	chr1	237777544	237777544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggctactatgacctgCtgattgacatccacctgagc	8	11	10	12	0	0	4	0	4	0	0	1	4	1	4	3	1	4	3	3	1	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:237777544C>T	ENST00000366574.2	+	37	5433	c.5116C>T	c.(5116-5118)Ctg>Ttg	p.L1706L	RYR2_ENST00000360064.6_Silent_p.L1704L|RYR2_ENST00000542537.1_Silent_p.L1690L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1706	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTATGACCTGCTGATTGACAT	0.537																																																	0													62	63	63					1																	237777544		2168	4272	6440	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5116C>T	1.37:g.237777544C>T			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L1704	ENST00000366574.2	37	c.5110	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	53	0	C	NM_001035		237777544	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	237777544	C	T	237777544	2	4	6	1	0	0	0	0	0	0	0	1	13814	796	28	3		3	RYR2	1	237777544	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	9271832	237777544	11473077	45	1518											
FMN2	56776	genome.wustl.edu	37	chr1	240371277	240371277	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgggcataccccctccTccccctcttcccggagcggg	4	6	12	19	3	1	0	0	0	1	0	4	2	4	2	6	4	3	1	6	4	1	2	rs200857897		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:240371277T>G	ENST00000319653.9	+	5	3395	c.3165T>G	c.(3163-3165)ccT>ccG	p.P1055P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1055	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCCCCTCCTCCCCCTCTTC	0.736																																																	0													1	1	1					1																	240371277		683	1697	2380	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3165T>G	1.37:g.240371277T>G			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1055	ENST00000319653.9	37	c.3165	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	32	0	T	XM_371352		240371277	1			no_errors	ENST00000319653	ensembl	human	known	74_37	silent	12.50	32	5	SNP	0.034	G	G	240371277	T	G	240371277	2	3	6	1	0	0	0	0	0	0	0	1	5972	1538	54	4		4	FMN2	1	240371277	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	2593733	240371277	8879344	46	1519											
C1orf101	257044	genome.wustl.edu	37	chr1	244640841	244640841	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactcttgttttcttttttAgattaagttagagtatgaag	11	19	8	3	0	2	3	0	1	2	2	2	4	2	3	0	0	1	3	0	0	6	9			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:244640841A>G	ENST00000366534.4	+	3	168		c.e3-1		C1orf101_ENST00000366531.3_Splice_Site|C1orf101_ENST00000366533.4_Splice_Site|C1orf101_ENST00000473875.1_Splice_Site	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101							CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TTTCTTTTTTAGATTAAGTTA	0.313																																																	0													132	146	141					1																	244640841		2203	4297	6500	SO:0001630	splice_region_variant	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.115-1A>G	1.37:g.244640841A>G			B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Splice_Site	SNP	-	e1-2	ENST00000366534.4	37	c.1-2	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525123	0.44969	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8759	0.41202	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf101	242707464	0.999000	0.42202	0.975000	0.42487	0.693000	0.40251	3.323000	0.52014	2.113000	0.64589	0.533000	0.62120	.	C1orf101	-	-	ENSG00000179397		0.313	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	-	0	50	0	A	NM_173807	Intron	244640841	1	tier1	-	no_errors	ENST00000366531	ensembl	human	known	74_37	splice_site	8.77	52	5	SNP	0.988	G	G	244640841	A	G	244640841	5	3	6	1	0	0	0	0	0	0	1	0	1983	434	15	4	123	4	C1orf101	1	244640841	Splice_Site	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	4269564	244640841	4609780	47	1520											
TRIM58	25893	genome.wustl.edu	37	chr1	248039702	248039702	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatgcaactcctcttatcTtgccacccacaacaatagca	12	10	5	14	0	2	1	0	1	2	0	3	1	3	1	3	0	5	2	3	0	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:248039702T>C	ENST00000366481.3	+	6	1420	c.1372T>C	c.(1372-1374)Ttg>Ctg	p.L458L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	458	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCCTCTTATCTTGCCACCCAC	0.418																																																	0													123	117	119					1																	248039702		2203	4300	6503	SO:0001819	synonymous_variant	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1372T>C	1.37:g.248039702T>C			Q6B0H9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L458	ENST00000366481.3	37	c.1372	CCDS1636.1	1																																																																																			TRIM58	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000162722		0.418	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	-	0	45	0	T	NM_015431		248039702	1	tier1	-	no_errors	ENST00000366481	ensembl	human	known	74_37	silent	45.00	33	27	SNP	0.000	C	C	248039702	T	C	248039702	2	2	6	1	0	0	0	0	0	0	0	1	16579	1606	56	4		4	TRIM58	1	248039702	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3398861	248039702	1210919	48	1521											
OR2L2	26246	genome.wustl.edu	37	chr1	248201876	248201876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggattcagagtttcttcTtcttgactttagcagttgca	7	17	10	7	0	4	2	1	1	3	1	4	3	4	3	0	1	2	4	0	1	1	8	rs151223470		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr1:248201876T>C	ENST00000366479.2	+	1	403	c.307T>C	c.(307-309)Ttc>Ctc	p.F103L	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAGTTTCTTCTTCTTGACTTT	0.423																																																	0													132	126	128					1																	248201876		2203	4300	6503	SO:0001583	missense	0			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.307T>C	1.37:g.248201876T>C	ENSP00000355435:p.Phe103Leu		Q2M3T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F103L	ENST00000366479.2	37	c.307	CCDS31103.1	1	.	.	.	.	.	.	.	.	.	.	.	16.79	3.219883	0.58560	.	.	ENSG00000203663	ENST00000366479	T	0.02258	4.37	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33144	U	0.005239	T	0.06280	0.0162	M	0.66297	2.02	0.09310	N	0.999999	D	0.55172	0.97	P	0.55161	0.77	T	0.10823	-1.0613	10	0.49607	T	0.09	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	103	Q8NH16	OR2L2_HUMAN	L	103	ENSP00000355435:F103L	ENSP00000355435:F103L	F	+	1	0	OR2L2	246268499	0.005000	0.15991	0.986000	0.45419	0.382000	0.30200	0.114000	0.15520	0.746000	0.32786	0.163000	0.16589	TTC	OR2L2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203663		0.423	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	-	0	102	0	T	NM_001004686		248201876	1	tier1	-	no_errors	ENST00000366479	ensembl	human	known	74_37	missense	39.78	56	37	SNP	0.258	C	C	248201876	T	C	248201876	3	2	6	1	0	0	0	0	1	0	0	0	11046	1609	56	4	309	4	OR2L2	1	248201876	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	162174	248201876	1048745	49	1522											
PDIA6	10130	genome.wustl.edu	37	chr2	10942647	10942647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcatagaattctacaaGccacaaactatcactctgaa	16	9	6	10	0	3	2	1	1	2	1	3	3	3	3	1	1	4	1	1	1	7	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:10942647G>T	ENST00000272227.3	-	2	286	c.139C>A	c.(139-141)Ctt>Att	p.L47I	PDIA6_ENST00000404824.2_Missense_Mutation_p.L95I|PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000540494.1_Missense_Mutation_p.L44I|PDIA6_ENST00000381611.4_Missense_Mutation_p.L52I|PDIA6_ENST00000404371.2_Missense_Mutation_p.L99I	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	47	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AATTCTACAAGCCACAAACTA	0.333																																					GBM(73;509 1219 34219 41343 41551)												0													72	71	71					2																	10942647		2203	4300	6503	SO:0001583	missense	0			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"Protein disulfide isomerases"	30168	protein-coding gene	gene with protein product	"protein disulfide isomerase-related protein"	611099	"thioredoxin domain containing 7 (protein disulfide isomerase)", "protein disulfide isomerase-associated 6"	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.139C>A	2.37:g.10942647G>T	ENSP00000272227:p.Leu47Ile		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.L52I	ENST00000272227.3	37	c.154	CCDS1675.1	2	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151049	0.57151	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	6.03	6.03	0.97812	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.53722	0.1814	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.19817	0.0;0.002;0.001;0.039	B;B;B;B	0.40782	0.028;0.096;0.096;0.34	T	0.43861	-0.9365	10	0.12430	T	0.62	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	44;95;99;47	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	I	47;99;95;44;52	ENSP00000272227:L47I;ENSP00000385385:L99I;ENSP00000384459:L95I;ENSP00000438778:L44I;ENSP00000371024:L52I	ENSP00000272227:L47I	L	-	1	0	PDIA6	10860098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.111000	0.77077	2.854000	0.98071	0.655000	0.94253	CTT	PDIA6	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	ENSG00000143870		0.333	PDIA6-001	KNOWN	basic|CCDS	protein_coding	PDIA6	HGNC	protein_coding	OTTHUMT00000206933.1	-	0	67	0	G	NM_005742		10942647	-1	tier1	-	no_errors	ENST00000381611	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	10942647	G	T	10942647	3	4	6	1	0	0	0	0	1	0	0	0	11711	971	34	3	1231	3	PDIA6	2	10942647	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		10942647	232256726	50	1523											
LRPPRC	10128	genome.wustl.edu	37	chr2	44126659	44126659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacttttctgaataagtatgCcaagccgaagtattggggtt	11	14	10	6	1	1	1	0	1	1	0	1	2	1	1	2	2	3	3	2	2	7	8			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:44126659C>T	ENST00000260665.7	-	33	3712	c.3655G>A	c.(3655-3657)Gca>Aca	p.A1219T		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1219	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATAAGTATGCCAAGCCGAAG	0.348																																																	0													99	91	94					2																	44126659		2203	4300	6503	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3655G>A	2.37:g.44126659C>T	ENSP00000260665:p.Ala1219Thr		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.A1219T	ENST00000260665.7	37	c.3655	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959385	0.34565	.	.	ENSG00000138095	ENST00000260665	T	0.57273	0.41	5.75	-3.9	0.04181	.	0.658374	0.15489	N	0.259657	T	0.36054	0.0953	L	0.48642	1.525	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.24154	-1.0168	10	0.12103	T	0.63	-7.5245	8.8212	0.35027	0.6512:0.1566:0.0:0.1922	.	1219	P42704	LPPRC_HUMAN	T	1219	ENSP00000260665:A1219T	ENSP00000260665:A1219T	A	-	1	0	LRPPRC	43980163	0.002000	0.14202	0.573000	0.28510	0.819000	0.46315	-0.713000	0.05007	-1.308000	0.02318	0.563000	0.77884	GCA	LRPPRC	-	NULL	ENSG00000138095		0.348	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0	51	0	C	NM_133259		44126659	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.409	T	T	44126659	C	T	44126659	3	4	6	1	0	0	0	0	1	0	0	0	9000	739	26	3	553	3	LRPPRC	2	44126659	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	33184012	44126659	199072714	51	1524											
REL	5966	genome.wustl.edu	37	chr2	61144029	61144029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccctgaaaaacagctgAatgatattgaagattgtgac	15	10	9	7	0	0	6	0	5	0	1	1	6	1	6	1	0	2	1	1	0	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:61144029A>G	ENST00000295025.8	+	5	732	c.412A>G	c.(412-414)Aat>Gat	p.N138D	REL_ENST00000394479.3_Missense_Mutation_p.N138D	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	138	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AAAACAGCTGAATGATATTGA	0.378			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													151	140	144					2																	61144029		2203	4300	6503	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.412A>G	2.37:g.61144029A>G	ENSP00000295025:p.Asn138Asp		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.N138D	ENST00000295025.8	37	c.412	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543223	0.45280	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.41065	1.01;1.01	5.82	4.93	0.64822	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.213212	0.40640	N	0.001041	T	0.26521	0.0648	N	0.11560	0.145	0.25785	N	0.984689	B;B	0.25169	0.027;0.119	B;B	0.30855	0.004;0.121	T	0.14090	-1.0485	10	0.12430	T	0.62	-2.4128	15.5398	0.76035	0.1538:0.8462:0.0:0.0	.	138;138	Q17RU2;Q04864	.;REL_HUMAN	D	138	ENSP00000295025:N138D;ENSP00000377989:N138D	ENSP00000295025:N138D	N	+	1	0	REL	60997533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.022000	0.30052	1.395000	0.46643	0.482000	0.46254	AAT	REL	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000162924		0.378	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3		0	45	0	A	NM_002908		61144029	1			no_errors	ENST00000295025	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	G	G	61144029	A	G	61144029	3	3	6	1	0	0	0	0	1	0	0	0	13260	246	9	4	430	4	REL	2	61144029	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	17017370	61144029	182055344	52	1525											
ETAA1	54465	genome.wustl.edu	37	chr2	67631390	67631390	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaagtcagctttgaacAcaaggtattctaatgaacag	17	9	9	6	0	2	2	1	2	1	0	2	3	2	3	0	2	3	2	0	2	7	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:67631390A>T	ENST00000272342.5	+	5	1706	c.1576A>T	c.(1576-1578)Aca>Tca	p.T526S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	526						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGCTTTGAACACAAGGTATTC	0.318																																																	0													35	37	37					2																	67631390		2198	4298	6496	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1576A>T	2.37:g.67631390A>T	ENSP00000272342:p.Thr526Ser		Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.T526S	ENST00000272342.5	37	c.1576	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	A	0.175	-1.067362	0.01934	.	.	ENSG00000143971	ENST00000272342	T	0.18502	2.21	5.97	0.753	0.18404	.	0.802027	0.11925	N	0.516296	T	0.12092	0.0294	L	0.56769	1.78	0.09310	N	1	B	0.24823	0.112	B	0.23716	0.048	T	0.39292	-0.9621	10	0.09338	T	0.73	-15.5402	1.1913	0.01865	0.4442:0.2258:0.1266:0.2035	.	526	Q9NY74	ETAA1_HUMAN	S	526	ENSP00000272342:T526S	ENSP00000272342:T526S	T	+	1	0	ETAA1	67484894	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	0.351000	0.20096	0.136000	0.18733	-0.336000	0.08194	ACA	ETAA1	-	NULL	ENSG00000143971		0.318	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	34	0	A	NM_019002		67631390	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.000	T	T	67631390	A	T	67631390	3	4	6	1	0	0	0	0	1	0	0	0	5283	159	6	5	1594	5	ETAA1	2	67631390	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	6487361	67631390	175567983	53	1526											
TET3	200424	genome.wustl.edu	37	chr2	74274419	74274419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcctcgcccaagccccgatCccatggctgaactggagcag	8	6	11	16	2	0	1	0	1	0	0	2	3	1	2	5	2	4	2	5	2	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:74274419C>T	ENST00000409262.3	+	1	970	c.970C>T	c.(970-972)Ccc>Tcc	p.P324S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	324					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCCCCGATCCCATGGCTGA	0.612																																																	0													44	48	47					2																	74274419		2053	4190	6243	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.970C>T	2.37:g.74274419C>T	ENSP00000386869:p.Pro324Ser		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.P324S	ENST00000409262.3	37	c.970	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290307	0.59976	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.58940	0.3;1.55	5.7	5.7	0.88788	.	.	.	.	.	T	0.39572	0.1083	N	0.19112	0.55	0.45899	D	0.998745	P	0.38597	0.639	B	0.30943	0.122	T	0.45469	-0.9259	9	0.72032	D	0.01	.	12.0166	0.53317	0.0:0.9201:0.0:0.0799	.	324	O43151	TET3_HUMAN	S	366;324;324	ENSP00000307803:P366S;ENSP00000386869:P324S	ENSP00000233310:P324S	P	+	1	0	TET3	74127927	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.351000	0.73022	2.688000	0.91661	0.655000	0.94253	CCC	TET3	-	NULL	ENSG00000187605		0.612	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0	49	0	C			74274419	1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	56.67	26	34	SNP	1.000	T	T	74274419	C	T	74274419	3	4	6	1	0	0	0	0	1	0	0	0	15818	855	30	3	972	3	TET3	2	74274419	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	6643029	74274419	168924954	54	1527											
UNC50	25972	genome.wustl.edu	37	chr2	99226273	99226273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcaggggaacggagtcttGaattccagggatgcggcaag	10	7	17	7	2	1	1	0	1	1	0	2	4	2	4	1	5	3	2	1	5	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:99226273G>C	ENST00000357765.2	+	2	203	c.51G>C	c.(49-51)ttG>ttC	p.L17F	COA5_ENST00000409997.1_5'Flank|COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409975.1_Missense_Mutation_p.L34F|UNC50_ENST00000409347.1_Missense_Mutation_p.L34F|COA5_ENST00000483527.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	17					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACGGAGTCTTGAATTCCAGGG	0.443																																																	0													196	200	199					2																	99226273		2203	4300	6503	SO:0001583	missense	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.51G>C	2.37:g.99226273G>C	ENSP00000350409:p.Leu17Phe		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	pfam_UNC-50	p.L34F	ENST00000357765.2	37	c.102	CCDS2035.1	2	.	.	.	.	.	.	.	.	.	.	G	9.977	1.227178	0.22542	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	1.3	0.21679	.	0.070023	0.56097	D	0.000030	T	0.33265	0.0857	L	0.59436	1.845	0.32430	N	0.548222	B	0.26744	0.158	B	0.17098	0.017	T	0.29518	-1.0009	9	0.12430	T	0.62	-3.8065	5.1335	0.14922	0.3207:0.2374:0.442:0.0	.	17	Q53HI1	UNC50_HUMAN	F	17;34;34	.	ENSP00000350409:L17F	L	+	3	2	UNC50	98592705	0.999000	0.42202	0.086000	0.20670	0.337000	0.28794	0.691000	0.25467	0.243000	0.21327	-0.216000	0.12614	TTG	UNC50	-	NULL	ENSG00000115446		0.443	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	HGNC	protein_coding	OTTHUMT00000252987.1	-	0	35	0	G	NM_014044		99226273	1	tier1	-	no_errors	ENST00000409347	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.401	C	C	99226273	G	C	99226273	3	2	6	1	0	0	0	0	1	0	0	0	17039	1281	45	5	53	5	UNC50	2	99226273	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	24951854	99226273	143973100	55	1528											
SULT1C2	6819	genome.wustl.edu	37	chr2	108921051	108921051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttatgtagctcgaaatGccaaagactgtatggtttcc	10	14	8	9	1	0	1	0	0	0	1	3	2	2	1	3	1	2	4	3	1	5	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:108921051G>T	ENST00000437390.2	+	5	616	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	SULT1C2_ENST00000326853.5_Missense_Mutation_p.A144S|SULT1C2_ENST00000251481.6_Missense_Mutation_p.A133S|SULT1C2_ENST00000409880.1_Missense_Mutation_p.A96S			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	139					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.A144S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AGCTCGAAATGCCAAAGACTG	0.433																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											189	179	182					2																	108921051		2203	4300	6503	SO:0001583	missense	0			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.439G>T	2.37:g.108921051G>T	ENSP00000399651:p.Ala147Ser		Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A144S	ENST00000437390.2	37	c.430		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.467|9.467	1.094516|1.094516	0.20471|0.20471	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390|ENST00000438339;ENST00000409067	T;T;T;T|T	0.01787|0.12879	4.64;4.64;4.64;4.64|2.64	4.52|4.52	3.64|3.64	0.41730|0.41730	Sulfotransferase domain (1);|.	0.182081|.	0.36778|.	N|.	0.002411|.	T|T	0.38692|0.38692	0.1050|0.1050	M|M	0.90483|0.90483	3.12|3.12	0.46011|0.46011	D|D	0.998814|0.998814	D;D;D;D|.	0.69078|.	0.967;0.997;0.967;0.987|.	D;D;D;D|.	0.72338|.	0.976;0.977;0.967;0.972|.	T|T	0.45396|0.45396	-0.9264|-0.9264	10|6	0.51188|.	T|.	0.08|.	.|.	11.9253|11.9253	0.52817|0.52817	0.0854:0.0:0.9146:0.0|0.0854:0.0:0.9146:0.0	.|.	147;48;133;144|.	B4DLP0;B4DPE8;O00338;O00338-2|.	.;.;ST1C2_HUMAN;.|.	S|F	133;144;96;147|112;129	ENSP00000251481:A133S;ENSP00000319622:A144S;ENSP00000387054:A96S;ENSP00000399651:A147S|ENSP00000401996:C112F	ENSP00000251481:A133S|.	A|C	+|+	1|2	0|0	SULT1C2|SULT1C2	108287483|108287483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.346000|3.346000	0.52190|0.52190	1.244000|1.244000	0.43870|0.43870	0.655000|0.655000	0.94253|0.94253	GCC|TGC	SULT1C2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000198203		0.433	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	HGNC	protein_coding	OTTHUMT00000329969.2		0	37	0	G	NM_176825		108921051	1			no_errors	ENST00000326853	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	108921051	G	T	108921051	3	4	6	1	0	0	0	0	1	0	0	0	15424	1319	46	3	510	3	SULT1C2	2	108921051	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	9694778	108921051	134278322	56	1529											
WDR33	55339	genome.wustl.edu	37	chr2	128477673	128477673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccccacctccctgatgCagtggaggaccttgtggtcc	5	8	12	16	0	0	1	0	1	0	0	2	3	2	3	7	4	1	1	7	4	0	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:128477673C>T	ENST00000322313.4	-	16	2084	c.1926G>A	c.(1924-1926)ctG>ctA	p.L642L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	642	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCCTGATGCAGTGGAGGAC	0.637																																																	0													52	53	53					2																	128477673		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1926G>A	2.37:g.128477673C>T			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L642	ENST00000322313.4	37	c.1926	CCDS2150.1	2																																																																																			WDR33	-	NULL	ENSG00000136709		0.637	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	-	0	42	0	C	NM_018383		128477673	-1	tier1	-	no_errors	ENST00000322313	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T	T	128477673	C	T	128477673	2	4	6	1	0	0	0	0	0	0	0	1	17336	697	25	3		3	WDR33	2	128477673	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	19556622	128477673	114721700	57	1530											
NCKAP5	344148	genome.wustl.edu	37	chr2	133751795	133751795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgactctgcaatagatttCgtactgtttcttccatcctg	7	17	6	11	1	2	2	0	1	2	1	5	2	4	2	2	0	2	3	2	0	3	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:133751795C>T	ENST00000409261.1	-	7	732	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	NCKAP5_ENST00000405974.3_Missense_Mutation_p.R120Q|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R120Q|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R120Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	120										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAATAGATTTCGTACTGTTTC	0.348																																																	0													100	92	94					2																	133751795		1808	4083	5891	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.359G>A	2.37:g.133751795C>T	ENSP00000387128:p.Arg120Gln		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.R120Q	ENST00000409261.1	37	c.359	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180643	0.78677	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	T;T;T;T	0.57107	2.38;0.42;2.38;0.42	5.65	5.65	0.86999	.	.	.	.	.	T	0.57140	0.2033	N	0.12182	0.205	0.27841	N	0.941093	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.986;0.996;0.991	T	0.56511	-0.7967	9	0.72032	D	0.01	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	95;120;120	O14513-3;O14513-2;O14513	.;.;NCKP5_HUMAN	Q	120;120;120;120;120;95	ENSP00000387128:R120Q;ENSP00000386952:R120Q;ENSP00000380603:R120Q;ENSP00000385692:R120Q	ENSP00000380603:R120Q	R	-	2	0	NCKAP5	133468265	0.967000	0.33354	1.000000	0.80357	0.991000	0.79684	1.733000	0.38156	2.941000	0.99782	0.655000	0.94253	CGA	NCKAP5	-	NULL	ENSG00000176771		0.348	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1		0	23	0	C	NM_207481		133751795	-1			no_errors	ENST00000317721	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	133751795	C	T	133751795	3	4	6	1	0	0	0	0	1	0	0	0	10262	884	31	1	5426	1	NCKAP5	2	133751795	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5274122	133751795	109447578	58	1531											
RAB3GAP1	22930	genome.wustl.edu	37	chr2	135920378	135920378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagataatatcccattccaGtaaagttttgcacttcccca	12	12	5	12	0	0	1	0	0	0	1	3	1	3	1	4	0	1	4	4	0	4	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:135920378G>T	ENST00000264158.8	+	21	2490	c.2447G>T	c.(2446-2448)aGt>aTt	p.S816I	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S816I|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S772I|RAB3GAP1_ENST00000487003.1_3'UTR|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	816					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TCCCATTCCAGTAAAGTTTTG	0.333																																																	0													91	102	98					2																	135920378		2202	4300	6502	SO:0001583	missense	0			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2447G>T	2.37:g.135920378G>T	ENSP00000264158:p.Ser816Ile		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.S816I	ENST00000264158.8	37	c.2447	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572469	0.86542	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.46451	0.88;0.87;0.88	6.06	6.06	0.98353	.	0.038079	0.85682	D	0.000000	T	0.52289	0.1725	L	0.48362	1.52	0.80722	D	1	D;D	0.54964	0.969;0.961	P;P	0.52856	0.711;0.64	T	0.32188	-0.9916	10	0.35671	T	0.21	-19.2039	20.6208	0.99490	0.0:0.0:1.0:0.0	.	816;816	C9J837;Q15042	.;RB3GP_HUMAN	I	816;772;816	ENSP00000264158:S816I;ENSP00000444306:S772I;ENSP00000411418:S816I	ENSP00000264158:S816I	S	+	2	0	RAB3GAP1	135636848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.731000	0.68554	2.882000	0.98803	0.655000	0.94253	AGT	RAB3GAP1	-	NULL	ENSG00000115839		0.333	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2		0	41	0	G	NM_012233		135920378	1			no_errors	ENST00000264158	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	135920378	G	T	135920378	3	4	6	1	0	0	0	0	1	0	0	0	12980	1029	36	3	2529	3	RAB3GAP1	2	135920378	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2168583	135920378	107278995	59	1532											
UBXN4	23190	genome.wustl.edu	37	chr2	136519420	136519420	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggccatgccacttcctctCaggagcctagtggatgctca	8	9	10	14	0	2	0	2	0	1	0	4	2	3	2	4	3	3	1	4	3	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:136519420C>T	ENST00000272638.9	+	6	852	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	181					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CACTTCCTCTCAGGAGCCTAG	0.368																																																	0													58	61	60					2																	136519420		1847	4085	5932	SO:0001587	stop_gained	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.541C>T	2.37:g.136519420C>T	ENSP00000272638:p.Gln181*		A8K9W4|Q4ZG56|Q8IYM5	Nonsense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.Q181*	ENST00000272638.9	37	c.541	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.707827	0.96821	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	.	.	.	5.02	5.02	0.67125	.	0.619068	0.16876	N	0.195939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	14.2258	0.65858	0.0:1.0:0.0:0.0	.	.	.	.	X	181;163	.	ENSP00000272638:Q181X	Q	+	1	0	UBXN4	136235890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.895000	0.56258	2.485000	0.83878	0.655000	0.94253	CAG	UBXN4	-	NULL	ENSG00000144224		0.368	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	-	0	51	0	C	NM_014607		136519420	1	tier1	-	no_errors	ENST00000272638	ensembl	human	known	74_37	nonsense	6.49	72	5	SNP	1.000	T	T	136519420	C	T	136519420	4	4	6	1	0	0	0	0	0	1	0	0	16965	827	29	3	563	3	UBXN4	2	136519420	Nonsense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	599042	136519420	106679953	60	1533											
LRP1B	53353	genome.wustl.edu	37	chr2	141214096	141214096	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttagtgggacatgcacaAgtgtgggtttttccaggggc	9	11	15	6	0	0	0	0	0	0	0	1	1	1	1	1	4	1	3	1	4	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:141214096A>G	ENST00000389484.3	-	62	10862	c.9891T>C	c.(9889-9891)acT>acC	p.T3297T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3297	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACATGCACAAGTGTGGGTTT	0.428										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													117	109	112					2																	141214096		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9891T>C	2.37:g.141214096A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T3297	ENST00000389484.3	37	c.9891	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom	ENSG00000168702		0.428	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	69	0	A	NM_018557		141214096	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	43.24	42	32	SNP	0.997	G	G	141214096	A	G	141214096	2	3	6	1	0	0	0	0	0	0	0	1	8990	59	3	4		4	LRP1B	2	141214096	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	4694676	141214096	101985277	61	1534											
KLHL23	151230	genome.wustl.edu	37	chr2	170592266	170592266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaagctgcctgctcAccgaaaataagatccgctcc	13	8	7	13	2	2	2	2	0	0	2	4	3	4	2	4	0	3	3	4	0	5	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:170592266A>T	ENST00000392647.2	+	2	986	c.742A>T	c.(742-744)Acc>Tcc	p.T248S	KLHL23_ENST00000272797.4_Missense_Mutation_p.T248S|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	248										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CTGCCTGCTCACCGAAAATAA	0.403																																																	0													68	71	70					2																	170592266		2203	4300	6503	SO:0001583	missense	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"Kelch-like", "BTB/POZ domain containing"	27506	protein-coding gene	gene with protein product			"kelch-like 23 (Drosophila)"				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.742A>T	2.37:g.170592266A>T	ENSP00000376419:p.Thr248Ser		Q8N9B9|Q96FT8	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T248S	ENST00000392647.2	37	c.742	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	A	7.764	0.706004	0.15172	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.69306	-0.39;-0.39;-0.37	5.81	5.81	0.92471	.	0.227973	0.44285	D	0.000463	T	0.44095	0.1277	N	0.08118	0	0.28168	N	0.928709	B	0.06786	0.001	B	0.09377	0.004	T	0.48234	-0.9053	9	0.05436	T	0.98	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	248	Q8NBE8	KLH23_HUMAN	S	248;248;69	ENSP00000272797:T248S;ENSP00000376419:T248S;ENSP00000394732:T69S	ENSP00000272797:T248S	T	+	1	0	KLHL23	170300512	0.827000	0.29292	0.256000	0.24389	0.624000	0.37722	4.430000	0.59907	2.210000	0.71456	0.533000	0.62120	ACC	KLHL23	-	pirsf_Kelch-like_gigaxonin	ENSG00000213160		0.403	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2		0	24	0	A	NM_144711		170592266	1			no_errors	ENST00000272797	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.595	T	T	170592266	A	T	170592266	3	4	6	1	0	0	0	0	1	0	0	0	8405	159	6	5	744	5	KLHL23	2	170592266	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	29378170	170592266	72607107	62	1535											
EVX2	344191	genome.wustl.edu	37	chr2	176948500	176948500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttttcttattctttccAtcatctcagctttcttaaaa	8	21	1	11	0	6	0	2	0	5	0	9	0	7	0	1	0	1	1	1	0	3	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:176948500A>G	ENST00000308618.4	-	1	141	c.5T>C	c.(4-6)aTg>aCg	p.M2T		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	2					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TATTCTTTCCATCATCTCAGC	0.507																																																	0													62	69	67					2																	176948500		2203	4300	6503	SO:0001583	missense	0				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"Homeoboxes / ANTP class : HOXL subclass"	3507	protein-coding gene	gene with protein product		142991	"eve, even-skipped homeobox homolog 2 (Drosophila)"			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.5T>C	2.37:g.176948500A>G	ENSP00000312385:p.Met2Thr			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa	p.M2T	ENST00000308618.4	37	c.5	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	A	16.13	3.036095	0.54896	.	.	ENSG00000174279	ENST00000308618	D	0.92699	-3.09	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94023	0.8085	L	0.49126	1.545	0.80722	D	1	D	0.55800	0.973	P	0.61201	0.885	D	0.94636	0.7826	10	0.87932	D	0	-21.6336	15.6681	0.77247	1.0:0.0:0.0:0.0	.	2	Q03828	EVX2_HUMAN	T	2	ENSP00000312385:M2T	ENSP00000312385:M2T	M	-	2	0	EVX2	176656746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.761000	0.91691	2.288000	0.76882	0.533000	0.62120	ATG	EVX2	-	NULL	ENSG00000174279		0.507	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	-	0	49	0	A			176948500	-1	tier1	-	no_errors	ENST00000308618	ensembl	human	known	74_37	missense	42.19	37	27	SNP	1.000	G	G	176948500	A	G	176948500	3	3	6	1	0	0	0	0	1	0	0	0	5311	217	8	4	1435	4	EVX2	2	176948500	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	6356234	176948500	66250873	63	1536											
NCKAP1	10787	genome.wustl.edu	37	chr2	183806893	183806894	+	Splice_Site	INS	-	-	A																															attctccaccacaagtttctINSaaaaaaaaaagaaagatcct																								rs140820523	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:183806893_183806894insA	ENST00000361354.4	-	24	2974		c.e24-2		NCKAP1_ENST00000478449.1_Splice_Site|NCKAP1_ENST00000360982.2_Splice_Site	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CACAAGTTTCTAAAAAAAAAAG	0.391																																																	0																																										SO:0001630	splice_region_variant	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2602-2->T	2.37:g.183806903_183806903dupA			O60329|Q53QN5|Q53S94|Q53Y35	Splice_Site	INS	-	e25-2	ENST00000361354.4	37	c.2620-3_2620-2	CCDS2287.1	2																																																																																			NCKAP1	-	-	ENSG00000061676		0.391	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2		0	27	0	-	NM_205842	Intron	183806894	-1	tier1		no_errors	ENST00000360982	ensembl	human	known	74_37	splice_site_ins	16.13	26	5	INS	0.999:0.019	A	A	183806894	-	A	183806893	8	5	6	1	0	1	1	0	0	0	1	0	10260	1536	53	0	818	0	NCKAP1	2	183806893	Splice_Site	INS	-	TCGA-2H-A9GK-01A-11D-A37C-09	6858393	183806893	59392480	64	1537											
AOX1	316	genome.wustl.edu	37	chr2	201473732	201473732	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccttggtgctggtctcagCctagcccaggtgaaggacat	8	9	12	12	0	1	1	1	1	1	0	2	2	1	2	3	4	3	1	3	4	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:201473732C>T	ENST00000374700.2	+	11	1174	c.933C>T	c.(931-933)agC>agT	p.S311S		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	311	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTGGTCTCAGCCTAGCCCAGG	0.468																																																	0													77	71	73					2																	201473732		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.933C>T	2.37:g.201473732C>T			O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.S311	ENST00000374700.2	37	c.933	CCDS33360.1	2																																																																																			AOX1	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.468	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0	21	0	C	NM_001159		201473732	1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T	T	201473732	C	T	201473732	2	4	6	1	0	0	0	0	0	0	0	1	729	738	26	3		3	AOX1	2	201473732	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	17666839	201473732	41725641	65	1538											
MDH1B	130752	genome.wustl.edu	37	chr2	207619816	207619816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcaataatgttgtgtGcaatgcgtggggcatatctc	10	11	11	9	1	1	0	0	0	1	0	2	0	1	0	1	2	3	4	1	2	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:207619816G>T	ENST00000374412.3	-	5	1102	c.827C>A	c.(826-828)gCa>gAa	p.A276E	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.A178E|MDH1B_ENST00000454776.2_Missense_Mutation_p.A276E	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	276					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AATGTTGTGTGCAATGCGTGG	0.468																																					Pancreas(76;29 1355 28675 37177 51207)												0													116	103	107					2																	207619816		2203	4300	6503	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.827C>A	2.37:g.207619816G>T	ENSP00000363533:p.Ala276Glu		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.A276E	ENST00000374412.3	37	c.827	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734926	0.30774	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.09163	3.01;3.01;3.01	5.49	2.54	0.30619	NAD(P)-binding domain (1);	0.696038	0.15179	N	0.276219	T	0.14356	0.0347	M	0.63428	1.95	0.21256	N	0.999747	B;B	0.30851	0.297;0.197	B;B	0.36186	0.219;0.109	T	0.15350	-1.0440	10	0.72032	D	0.01	-3.7898	8.4576	0.32908	0.1402:0.1277:0.7322:0.0	.	276;276	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	E	276;178;276	ENSP00000363533:A276E;ENSP00000416577:A178E;ENSP00000389916:A276E	ENSP00000363533:A276E	A	-	2	0	MDH1B	207328061	0.993000	0.37304	0.002000	0.10522	0.002000	0.02628	3.169000	0.50809	0.800000	0.34041	-0.136000	0.14681	GCA	MDH1B	-	NULL	ENSG00000138400		0.468	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2		0	31	0	G	NM_001039845		207619816	-1			no_errors	ENST00000374412	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.060	T	T	207619816	G	T	207619816	3	4	6	1	0	0	0	0	1	0	0	0	9447	1319	46	3	761	3	MDH1B	2	207619816	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	6146084	207619816	35579557	66	1539											
COL4A3	1285	genome.wustl.edu	37	chr2	228162548	228162548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccagacaggaaatcgtGgtccaccaggctcaagagga	12	5	13	11	1	1	2	1	0	0	2	3	4	2	4	3	5	0	1	3	5	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:228162548G>T	ENST00000396578.3	+	42	3886	c.3724G>T	c.(3724-3726)Ggt>Tgt	p.G1242C	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|COL4A3_ENST00000468753.1_3'UTR	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1242	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGGAAATCGTGGTCCACCAGG	0.498																																																	0													20	23	22					2																	228162548		1877	4106	5983	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3724G>T	2.37:g.228162548G>T	ENSP00000379823:p.Gly1242Cys		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1242C	ENST00000396578.3	37	c.3724	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728582	0.30593	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.98822	-5.16	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000014	D	0.99453	0.9806	H	0.95850	3.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98433	1.0583	10	0.87932	D	0	.	17.6566	0.88179	0.0:0.0:1.0:0.0	.	1242;1242;1242;1242	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	C	1242	ENSP00000379823:G1242C	ENSP00000323334:G1242C	G	+	1	0	COL4A3	227870792	1.000000	0.71417	0.418000	0.26571	0.015000	0.08874	5.606000	0.67641	2.618000	0.88619	0.462000	0.41574	GGT	COL4A3	-	pfam_Collagen	ENSG00000169031		0.498	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0	45	0	G	NM_000091		228162548	1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.961	T	T	228162548	G	T	228162548	3	4	6	1	0	0	0	0	1	0	0	0	3698	1348	47	3	3890	3	COL4A3	2	228162548	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	20542732	228162548	15036825	67	1540											
SP110	3431	genome.wustl.edu	37	chr2	231048323	231048323	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgaaatctcctttttGagcttgaacagatatctttc	9	19	5	8	0	3	4	0	3	3	1	5	4	3	4	1	0	2	1	1	0	3	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:231048323G>T	ENST00000358662.4	-	12	1391	c.1313C>A	c.(1312-1314)tCa>tAa	p.S438*	SP110_ENST00000258382.5_Nonsense_Mutation_p.S438*|SP110_ENST00000540870.1_Nonsense_Mutation_p.S444*|SP110_ENST00000392048.3_Nonsense_Mutation_p.S436*|SP110_ENST00000258381.6_Nonsense_Mutation_p.S438*|SP110_ENST00000338556.3_Nonsense_Mutation_p.S140*	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	438					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCCTTTTTGAGCTTGAACA	0.413																																																	0													212	213	212					2																	231048323		2203	4300	6503	SO:0001587	stop_gained	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1313C>A	2.37:g.231048323G>T	ENSP00000351488:p.Ser438*		B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Nonsense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.S438*	ENST00000358662.4	37	c.1313	CCDS2474.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.420894	0.98803	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	.	.	.	2.56	0.62	0.17637	.	8.131980	0.00649	N	0.000557	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	3.0032	0.06020	0.1554:0.0:0.5782:0.2664	.	.	.	.	X	438;438;436;438;444;140	.	ENSP00000258381:S438X	S	-	2	0	SP110	230756567	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.032000	0.12266	0.147000	0.19030	-0.262000	0.10625	TCA	SP110	-	NULL	ENSG00000135899		0.413	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1		0	58	0	G	NM_080424		231048323	-1			no_errors	ENST00000258381	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.000	T	T	231048323	G	T	231048323	4	4	6	1	0	0	0	0	0	1	0	0	15006	1294	45	3	924	3	SP110	2	231048323	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2885775	231048323	12151050	68	1541											
ILKAP	80895	genome.wustl.edu	37	chr2	239098577	239098577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctcctttcccttcaGtctttaccatctgggatatt	5	19	5	12	0	4	0	1	0	3	0	6	1	6	1	3	1	2	1	3	1	2	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:239098577G>T	ENST00000254654.3	-	4	390	c.215C>A	c.(214-216)aCt>aAt	p.T72N		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	72					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTTCCCTTCAGTCTTTACCAT	0.403																																																	0													109	106	107					2																	239098577		2203	4300	6503	SO:0001583	missense	0			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	15566	protein-coding gene	gene with protein product			"integrin-linked kinase-associated serine/threonine phosphatase 2C"				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.215C>A	2.37:g.239098577G>T	ENSP00000254654:p.Thr72Asn		B3KM39	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.T72N	ENST00000254654.3	37	c.215	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630455	0.28978	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.40756	2.0;1.02	5.85	-5.03	0.02973	.	0.914435	0.09640	N	0.775124	T	0.15998	0.0385	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.09338	T	0.73	2.9353	7.0941	0.25299	0.0:0.3651:0.3426:0.2924	.	72	Q9H0C8	ILKAP_HUMAN	N	72	ENSP00000254654:T72N;ENSP00000395301:T72N	ENSP00000254654:T72N	T	-	2	0	ILKAP	238763316	0.000000	0.05858	0.078000	0.20375	0.961000	0.63080	-0.110000	0.10824	-0.756000	0.04703	-0.357000	0.07601	ACT	ILKAP	-	NULL	ENSG00000132323		0.403	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	HGNC	protein_coding	OTTHUMT00000257163.2	-	0	39	0	G	NM_030768		239098577	-1	tier1	-	no_errors	ENST00000254654	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.042	T	T	239098577	G	T	239098577	3	4	6	1	0	0	0	0	1	0	0	0	7741	1029	36	3	999	3	ILKAP	2	239098577	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	8050254	239098577	4100796	69	1542											
STK25	10494	genome.wustl.edu	37	chr2	242437665	242437665	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaccttctgtgaactgtgCagggccgtccccttgtgaag	7	10	12	12	1	1	3	0	2	1	1	2	3	2	3	4	1	2	1	4	1	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:242437665C>T	ENST00000316586.4	-	9	1366	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	STK25_ENST00000478403.1_5'UTR|STK25_ENST00000401869.1_Silent_p.L339L|STK25_ENST00000405585.1_Silent_p.L262L|STK25_ENST00000535007.1_Silent_p.L245L|STK25_ENST00000405883.3_Silent_p.L262L|STK25_ENST00000403346.3_Silent_p.L339L|STK25_ENST00000543554.1_Silent_p.L245L	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	339					establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GTGAACTGTGCAGGGCCGTCC	0.662																																					NSCLC(99;1100 1566 7679 28647 48345)												0													150	130	137					2																	242437665		2203	4300	6503	SO:0001819	synonymous_variant	0			D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"serine/threonine kinase 25 (Ste20, yeast homolog)"			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.1017G>A	2.37:g.242437665C>T			A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L339	ENST00000316586.4	37	c.1017	CCDS2549.1	2																																																																																			STK25	-	NULL	ENSG00000115694		0.662	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK25	HGNC	protein_coding	OTTHUMT00000257265.4		0	63	0	C	NM_006374		242437665	-1			no_errors	ENST00000316586	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.993	T	T	242437665	C	T	242437665	2	4	6	1	0	0	0	0	0	0	0	1	15341	697	25	3		3	STK25	2	242437665	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3339088	242437665	761708	70	1543											
NEU4	129807	genome.wustl.edu	37	chr2	242755705	242755705	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccctcgtaccccttcAcggacagtgctcttcgagcg	5	9	12	15	4	2	0	1	0	1	0	5	2	3	1	3	3	3	2	3	3	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr2:242755705A>G	ENST00000391969.2	+	3	735	c.24A>G	c.(22-24)tcA>tcG	p.S8S	NEU4_ENST00000325935.6_Silent_p.S21S|NEU4_ENST00000404257.1_Silent_p.S20S|NEU4_ENST00000405370.1_Silent_p.S8S|NEU4_ENST00000407683.1_Silent_p.S8S|AC114730.3_ENST00000420272.2_RNA	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	8					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GTACCCCTTCACGGACAGTGC	0.692																																																	0													36	37	37					2																	242755705		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.24A>G	2.37:g.242755705A>G			A8K056|J3KNJ5|Q96D64	Silent	SNP	superfamily_Sialidases	p.S21	ENST00000391969.2	37	c.63	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	A	6.541	0.468024	0.12461	.	.	ENSG00000204099	ENST00000472793	.	.	.	3.12	-5.62	0.02481	.	.	.	.	.	T	0.23249	0.0562	.	.	.	0.22354	N	0.99918	.	.	.	.	.	.	T	0.36792	-0.9733	5	0.45353	T	0.12	-1.1445	2.6898	0.05117	0.51:0.197:0.1861:0.107	.	.	.	.	A	32	.	ENSP00000441629:T32A	T	+	1	0	NEU4	242404378	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.374000	0.02566	-0.616000	0.05671	-0.656000	0.03901	ACG	NEU4	-	superfamily_Sialidases	ENSG00000204099		0.692	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	-	0	35	0	A	NM_080741		242755705	1	tier1	-	no_errors	ENST00000325935	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.111	G	G	242755705	A	G	242755705	2	3	6	1	0	0	0	0	0	0	0	1	10383	146	6	4		4	NEU4	2	242755705	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	318040	242755705	443668	71	1544											
CNTN4	152330	genome.wustl.edu	37	chr3	3030058	3030058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgaagatggaaacctcaGaatcatcaacgttactaaat	16	11	6	8	1	4	3	3	1	1	2	4	4	4	4	1	1	3	1	1	1	7	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:3030058G>A	ENST00000397461.1	+	13	1772	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	CNTN4_ENST00000427331.1_Missense_Mutation_p.R463K|CNTN4_ENST00000397459.2_Missense_Mutation_p.R135K|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Missense_Mutation_p.R135K|CNTN4_ENST00000358480.3_Missense_Mutation_p.R244K|CNTN4_ENST00000418658.1_Missense_Mutation_p.R463K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	463	Ig-like C2-type 5.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGAAACCTCAGAATCATCAAC	0.363																																																	0													88	88	88					3																	3030058		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1388G>A	3.37:g.3030058G>A	ENSP00000380602:p.Arg463Lys		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R463K	ENST00000397461.1	37	c.1388	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896375	0.33442	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.28694	0.88	0.45594	D	0.998537	B;B;B	0.13594	0.0;0.001;0.008	B;B;B	0.20384	0.005;0.013;0.029	T	0.43180	-0.9407	10	0.12766	T	0.61	.	10.7153	0.46008	0.1415:0.0:0.8585:0.0	.	463;463;463	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	K	463;463;463;244;135;135	ENSP00000396010:R463K;ENSP00000380602:R463K;ENSP00000413642:R463K;ENSP00000351267:R244K;ENSP00000380600:R135K;ENSP00000392077:R135K	ENSP00000351267:R244K	R	+	2	0	CNTN4	3005058	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.399000	0.59703	2.885000	0.99019	0.655000	0.94253	AGA	CNTN4	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144619		0.363	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0	52	0	G			3030058	1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	13.51	64	10	SNP	0.997	A	A	3030058	G	A	3030058	3	1	6	1	0	0	0	0	1	0	0	0	3650	942	33	3	1430	3	CNTN4	3	3030058	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		3030058	194992372	72	1545											
ATG7	10533	genome.wustl.edu	37	chr3	11399890	11399890	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacgtcctggtgtttccctAgaatgccagaggattcaaca	10	11	9	11	1	1	2	1	0	0	2	3	3	3	3	3	2	3	1	3	2	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:11399890A>G	ENST00000354449.3	+	13	1309		c.e13-1		ATG7_ENST00000446450.2_Splice_Site|ATG7_ENST00000354956.5_Splice_Site	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTGTTTCCCTAGAATGCCAGA	0.498																																																	0													197	186	190					3																	11399890		2203	4300	6503	SO:0001630	splice_region_variant	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.1285-1A>G	3.37:g.11399890A>G			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Splice_Site	SNP	-	e12-2	ENST00000354449.3	37	c.1285-2	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129528	0.77549	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6945	0.77484	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATG7	11374890	1.000000	0.71417	0.920000	0.36463	0.806000	0.45545	8.786000	0.91826	2.118000	0.64928	0.533000	0.62120	.	ATG7	-	-	ENSG00000197548		0.498	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	-	0	45	0	A	NM_006395	Intron	11399890	1	tier1	-	no_errors	ENST00000354449	ensembl	human	known	74_37	splice_site	8.33	43	4	SNP	0.999	G	G	11399890	A	G	11399890	5	3	6	1	0	0	0	0	0	0	1	0	1102	434	15	4	1329	4	ATG7	3	11399890	Splice_Site	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	8369832	11399890	186622540	73	1546											
ZNF385D	79750	genome.wustl.edu	37	chr3	21466996	21466996	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttacctgtttaagttgCgtttccgagttgacgtgcac	6	16	10	9	3	0	1	0	1	0	0	1	2	1	1	2	0	3	6	2	0	2	7	rs201622878		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:21466996C>T	ENST00000281523.2	-	6	1358	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	280						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GTTTAAGTTGCGTTTCCGAGT	0.413																																																	0													219	193	202					3																	21466996		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.840G>A	3.37:g.21466996C>T				Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.T280	ENST00000281523.2	37	c.840	CCDS2636.1	3																																																																																			ZNF385D	-	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000151789		0.413	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	-	0	67	0	C	NM_024697		21466996	-1	tier1	rs201622878	no_errors	ENST00000281523	ensembl	human	known	74_37	silent	6.94	67	5	SNP	0.967	T	T	21466996	C	T	21466996	2	4	6	1	0	0	0	0	0	0	0	1	17926	755	27	1		1	ZNF385D	3	21466996	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	10067106	21466996	176555434	74	1547											
NEK10	152110	genome.wustl.edu	37	chr3	27337137	27337137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttgctgcattcttttgCttatttggtaaaattaattt	8	23	5	5	0	1	0	0	0	1	0	1	0	1	0	0	1	3	4	0	1	4	10			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:27337137C>T	ENST00000429845.2	-	16	1637	c.1275G>A	c.(1273-1275)aaG>aaA	p.K425K	NEK10_ENST00000341435.5_Silent_p.K425K			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	425					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATTCTTTTGCTTATTTGGTA	0.313																																																	0													171	143	152					3																	27337137		1564	3574	5138	SO:0001819	synonymous_variant	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1275G>A	3.37:g.27337137C>T			A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K425	ENST00000429845.2	37	c.1275		3																																																																																			NEK10	-	superfamily_ARM-type_fold	ENSG00000163491		0.313	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	-	0	56	0	C	NM_152534		27337137	-1	tier1	-	no_errors	ENST00000341435	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T	T	27337137	C	T	27337137	2	4	6	1	0	0	0	0	0	0	0	1	10361	796	28	3		3	NEK10	3	27337137	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5870141	27337137	170685293	75	1548											
SMARCC1	6599	genome.wustl.edu	37	chr3	47747971	47747971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggcgaatgtttcctctttCgagcattagctgatgctttt	8	16	9	8	2	1	1	0	1	1	0	3	3	2	1	1	1	3	4	1	1	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:47747971C>T	ENST00000254480.5	-	10	1087	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	323					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTTCCTCTTTCGAGCATTAGC	0.438																																																	0													245	206	219					3																	47747971		2203	4300	6503	SO:0001583	missense	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.968G>A	3.37:g.47747971C>T	ENSP00000254480:p.Arg323Gln		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.R323Q	ENST00000254480.5	37	c.968	CCDS2758.1	3	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836785	0.50951	.	.	ENSG00000173473	ENST00000254480	T	0.42513	0.97	5.62	4.73	0.59995	.	0.105878	0.64402	D	0.000007	T	0.19805	0.0476	N	0.11064	0.09	0.09310	N	1	P	0.46656	0.882	B	0.35607	0.206	T	0.07635	-1.0762	10	0.41790	T	0.15	-2.4415	8.5599	0.33505	0.1541:0.7692:0.0:0.0767	.	323	Q92922	SMRC1_HUMAN	Q	323	ENSP00000254480:R323Q	ENSP00000254480:R323Q	R	-	2	0	SMARCC1	47722975	0.455000	0.25736	0.807000	0.32361	0.909000	0.53808	3.147000	0.50639	1.494000	0.48533	0.644000	0.83932	CGA	SMARCC1	-	NULL	ENSG00000173473		0.438	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	-	0	70	0	C			47747971	-1	tier1	-	no_errors	ENST00000254480	ensembl	human	known	74_37	missense	10.29	61	7	SNP	0.144	T	T	47747971	C	T	47747971	3	4	6	1	0	0	0	0	1	0	0	0	14820	884	31	1	2425	1	SMARCC1	3	47747971	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	20410834	47747971	150274459	76	1549											
COL7A1	1294	genome.wustl.edu	37	chr3	48619360	48619360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaccttttctcctttgggtCcagcaacagcaggtccctga	7	13	8	13	0	1	1	0	1	1	0	4	1	3	1	4	2	4	2	4	2	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:48619360C>T	ENST00000328333.8	-	47	4759	c.4652G>A	c.(4651-4653)gGa>gAa	p.G1551E	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.G1551E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1551	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTTTGGGTCCAGCAACAGC	0.517																																																	0													209	217	214					3																	48619360		2203	4300	6503	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4652G>A	3.37:g.48619360C>T	ENSP00000332371:p.Gly1551Glu		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G1551E	ENST00000328333.8	37	c.4652	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868689	0.17322	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97924	-4.61;-4.61	4.38	2.44	0.29823	.	0.000000	0.46145	D	0.000305	D	0.98563	0.9520	M	0.91663	3.23	0.31939	N	0.611171	D	0.89917	1.0	D	0.91635	0.999	D	0.96806	0.9593	10	0.87932	D	0	.	7.4413	0.27185	0.0:0.7324:0.1697:0.0979	.	1551	Q02388	CO7A1_HUMAN	E	1551	ENSP00000332371:G1551E;ENSP00000412569:G1551E	ENSP00000332371:G1551E	G	-	2	0	COL7A1	48594364	0.236000	0.23804	0.981000	0.43875	0.167000	0.22549	2.934000	0.48956	1.200000	0.43188	-0.136000	0.14681	GGA	COL7A1	-	NULL	ENSG00000114270		0.517	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0	27	0	C	NM_000094		48619360	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.829	T	T	48619360	C	T	48619360	3	4	6	1	0	0	0	0	1	0	0	0	3711	855	30	3	4470	3	COL7A1	3	48619360	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	871389	48619360	149403070	77	1550											
RHOA	387	genome.wustl.edu	37	chr3	49405962	49405962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcctgcccagctgtgTcccacaaagccaactctacc	10	9	5	17	0	2	0	0	0	2	0	4	0	4	0	5	0	5	1	5	0	4	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:49405962T>C	ENST00000418115.1	-	3	560	c.176A>G	c.(175-177)gAc>gGc	p.D59G	RHOA_ENST00000454011.2_Intron|RHOA-IT1_ENST00000428083.1_RNA|RHOA_ENST00000422781.1_Missense_Mutation_p.D59G	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	59					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.D59G(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCCAGCTGTGTCCCACAAAGC	0.463																																																	1	Substitution - Missense(1)	prostate(1)											105	101	103					3																	49405962		2203	4300	6503	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.176A>G	3.37:g.49405962T>C	ENSP00000400175:p.Asp59Gly		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D59G	ENST00000418115.1	37	c.176	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	T	26.8	4.772178	0.90108	.	.	ENSG00000067560	ENST00000418115;ENST00000422781;ENST00000445425	D;D;D	0.86297	-2.1;-2.1;-2.1	5.78	5.78	0.91487	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96632	0.8901	H	0.99545	4.62	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98321	1.0528	10	0.87932	D	0	.	14.9619	0.71164	0.0:0.0:0.0:1.0	.	59	P61586	RHOA_HUMAN	G	59	ENSP00000400175:D59G;ENSP00000413587:D59G;ENSP00000408402:D59G	ENSP00000400175:D59G	D	-	2	0	RHOA	49380966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.893000	0.87330	2.219000	0.72066	0.450000	0.29827	GAC	RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.463	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	-	0	39	0	T	NM_001664		49405962	-1	tier1	-	no_errors	ENST00000418115	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	C	C	49405962	T	C	49405962	3	2	6	1	0	0	0	0	1	0	0	0	13376	1667	58	4	417	4	RHOA	3	49405962	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	786602	49405962	148616468	78	1551											
MST1	327	genome.wustl.edu	37	chr3	49721800	49721800	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcacatctcactctcccGcacacgtcctcggtgcttga	7	10	8	16	3	2	1	1	1	2	0	6	1	3	1	2	1	2	3	2	1	0	1	rs201444451		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:49721800G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.R655W	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCACTCTCCCGCACACGTCCT	0.597																																																	0													56	59	58					3																	49721800		2203	4300	6503	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721800G>A			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R655W	ENST00000296456.5	37	c.1963	CCDS2801.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.214937|3.214937	0.58452|0.58452	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.89050	.|-2.46	5.59|5.59	2.28|2.28	0.28536|0.28536	.|.	.|1.156200	.|0.06730	.|N	.|0.776513	D|D	0.89128|0.89128	0.6627|0.6627	L|L	0.55990|0.55990	1.75|1.75	0.09310|0.09310	N|N	0.999996|0.999996	.|D	.|0.67145	.|0.996	.|P	.|0.49361	.|0.608	T|T	0.77213|0.77213	-0.2670|-0.2670	5|10	.|0.66056	.|D	.|0.02	.|.	9.1102|9.1102	0.36723|0.36723	0.077:0.0:0.4359:0.4871|0.077:0.0:0.4359:0.4871	.|.	.|655	.|G3XAK1	.|.	V|W	124|655	.|ENSP00000414287:R655W	.|ENSP00000414287:R655W	A|R	-|-	2|1	0|2	MST1|MST1	49696804|49696804	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.944000|0.944000	0.59088|0.59088	0.994000|0.994000	0.29693|0.29693	0.620000|0.620000	0.30215|0.30215	0.655000|0.655000	0.94253|0.94253	GCG|CGG	MST1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000173531		0.597	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2		0	43	0	G			49721800	-1			no_errors	ENST00000449682	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.000	A	A	49721800	G	A	49721800	1	1	6	0	1	0	0	0	0	0	0	0	9928	1086	38	1		1	MST1	3	49721800	IGR	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	315838	49721800	148300630	79	1552											
ALCAM	214	genome.wustl.edu	37	chr3	105086285	105086285	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccagttcctgccgtctGctcttctgcctcttgatctc	2	14	10	15	1	5	1	0	1	5	0	7	1	6	1	4	2	3	2	4	2	0	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:105086285G>A	ENST00000306107.5	+	1	533	c.33G>A	c.(31-33)ctG>ctA	p.L11L	ALCAM_ENST00000472644.2_Silent_p.L11L	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	11					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CCTGCCGTCTGCTCTTCTGCC	0.652																																																	0													89	86	87					3																	105086285		2203	4300	6503	SO:0001819	synonymous_variant	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.33G>A	3.37:g.105086285G>A			B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.L11	ENST00000306107.5	37	c.33	CCDS33810.1	3																																																																																			ALCAM	-	NULL	ENSG00000170017		0.652	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1	-	0	36	0	G	NM_001627		105086285	1	tier1	-	no_errors	ENST00000306107	ensembl	human	known	74_37	silent	20.00	48	12	SNP	1.000	A	A	105086285	G	A	105086285	2	1	6	1	0	0	0	0	0	0	0	1	487	1306	46	3		3	ALCAM	3	105086285	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	55364485	105086285	92936145	80	1553											
SIDT1	54847	genome.wustl.edu	37	chr3	113303617	113303617	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattgtcccttccattaaagGtcagtgttggctccagaatg	9	13	9	10	0	1	1	1	0	0	1	4	1	4	1	3	2	0	2	3	2	3	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:113303617G>T	ENST00000264852.4	+	8	1633		c.e8+1		SIDT1_ENST00000393830.3_Splice_Site	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1						dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TCCATTAAAGGTCAGTGTTGG	0.358																																																	0													95	94	94					3																	113303617		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.907+1G>T	3.37:g.113303617G>T			Q17RR4	Splice_Site	SNP	-	e8+1	ENST00000264852.4	37	c.907+1	CCDS2974.1	3	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793616	0.50102	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.177	0.98182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIDT1	114786307	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	6.368000	0.73104	2.854000	0.98071	0.655000	0.94253	.	SIDT1	-	-	ENSG00000072858		0.358	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	-	0	32	0	G	NM_017699	Intron	113303617	1	tier1	-	no_errors	ENST00000393830	ensembl	human	known	74_37	splice_site	7.14	52	4	SNP	1.000	T	T	113303617	G	T	113303617	5	4	6	1	0	0	0	0	0	0	1	0	14347	1275	44	3	938	3	SIDT1	3	113303617	Splice_Site	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	8217332	113303617	84718813	81	1554											
KIAA1407	57577	genome.wustl.edu	37	chr3	113697767	113697767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaaattgatcagcctgggCcatctttctagccagacttt	11	13	7	10	0	3	2	1	1	2	1	3	2	3	2	3	1	2	0	3	1	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:113697767C>T	ENST00000295878.3	-	15	2544	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	800								p.A800T(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCAGCCTGGGCCATCTTTCTA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											161	158	159					3																	113697767		2203	4300	6503	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2398G>A	3.37:g.113697767C>T	ENSP00000295878:p.Ala800Thr		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.A800T	ENST00000295878.3	37	c.2398	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746383	0.30955	.	.	ENSG00000163617	ENST00000295878	T	0.34472	1.36	5.62	3.83	0.44106	.	0.054610	0.64402	D	0.000001	T	0.31857	0.0810	M	0.69823	2.125	0.18873	N	0.999989	P	0.40211	0.707	B	0.33254	0.16	T	0.28038	-1.0056	10	0.46703	T	0.11	.	8.0109	0.30353	0.0:0.7503:0.0:0.2497	.	800	Q8NCU4	K1407_HUMAN	T	800	ENSP00000295878:A800T	ENSP00000295878:A800T	A	-	1	0	KIAA1407	115180457	0.711000	0.27906	0.007000	0.13788	0.003000	0.03518	1.387000	0.34430	0.848000	0.35191	-0.145000	0.13849	GCC	KIAA1407	-	NULL	ENSG00000163617		0.448	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0	57	0	C	NM_020817		113697767	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.008	T	T	113697767	C	T	113697767	3	4	6	1	0	0	0	0	1	0	0	0	8256	739	26	3	424	3	KIAA1407	3	113697767	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	394150	113697767	84324663	82	1555											
WDR5B	54554	genome.wustl.edu	37	chr3	122133874	122133874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaacagcagaaactgggtCagaatgagcagacaaagtct	17	6	11	7	0	2	5	1	2	1	3	2	5	2	5	0	1	4	2	0	1	4	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:122133874C>T	ENST00000330689.4	-	1	1008	c.502G>A	c.(502-504)Gac>Aac	p.D168N	RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	168										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GAAACTGGGTCAGAATGAGCA	0.438																																																	0													78	74	76					3																	122133874		2203	4300	6503	SO:0001583	missense	0			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"WD repeat domain containing"	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.502G>A	3.37:g.122133874C>T	ENSP00000330381:p.Asp168Asn		B2RCM9|Q9NUL4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D168N	ENST00000330689.4	37	c.502	CCDS3012.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782778	0.90282	.	.	ENSG00000196981	ENST00000330689	T	0.41400	1.0	4.58	4.58	0.56647	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.043065	0.85682	D	0.000000	T	0.48714	0.1515	L	0.33189	0.99	0.80722	D	1	D	0.57571	0.98	P	0.59889	0.865	T	0.39941	-0.9589	10	0.39692	T	0.17	.	15.2729	0.73720	0.0:1.0:0.0:0.0	.	168	Q86VZ2	WDR5B_HUMAN	N	168	ENSP00000330381:D168N	ENSP00000330381:D168N	D	-	1	0	WDR5B	123616564	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.927000	0.75840	2.540000	0.85666	0.462000	0.41574	GAC	WDR5B	-	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196981		0.438	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR5B	HGNC	protein_coding	OTTHUMT00000355753.1	-	0	17	0	C	NM_019069		122133874	-1	tier1	-	no_errors	ENST00000330689	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	T	T	122133874	C	T	122133874	3	4	6	1	0	0	0	0	1	0	0	0	17358	826	29	3	494	3	WDR5B	3	122133874	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	8436107	122133874	75888556	83	1556											
HEG1	57493	genome.wustl.edu	37	chr3	124732754	124732754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgaaagtagatgacaGgtaggtgtggtctgtgtggt	8	14	17	2	0	1	3	0	2	1	1	1	3	1	3	0	5	0	2	0	5	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:124732754G>T	ENST00000311127.4	-	6	1736	c.1669C>A	c.(1669-1671)Ctg>Atg	p.L557M	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	557	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTAGATGACAGGTAGGTGTGG	0.453																																																	0													121	116	117					3																	124732754		1980	4159	6139	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1669C>A	3.37:g.124732754G>T	ENSP00000311502:p.Leu557Met		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.L557M	ENST00000311127.4	37	c.1669	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104396	0.37145	.	.	ENSG00000173706	ENST00000311127	D	0.88277	-2.36	5.38	-0.0207	0.13955	.	1.316200	0.06522	U	0.739879	T	0.78848	0.4348	N	0.22421	0.69	0.09310	N	1	P;P	0.48503	0.911;0.744	B;B	0.38562	0.276;0.212	T	0.70146	-0.4952	10	0.72032	D	0.01	.	4.427	0.11507	0.0:0.3184:0.1876:0.494	.	557;557	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	M	557	ENSP00000311502:L557M	ENSP00000311502:L557M	L	-	1	2	HEG1	126215444	0.003000	0.15002	0.000000	0.03702	0.886000	0.51366	0.166000	0.16583	0.078000	0.16900	-0.995000	0.02519	CTG	HEG1	-	NULL	ENSG00000173706		0.453	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2		0	21	0	G	XM_087386		124732754	-1			no_errors	ENST00000311127	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.001	T	T	124732754	G	T	124732754	3	4	6	1	0	0	0	0	1	0	0	0	7071	991	35	3	2524	3	HEG1	3	124732754	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2598880	124732754	73289676	84	1557											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125876244	125876244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgtgctcacggtgtcgTccgggagcacctcacactcc	7	7	11	16	4	2	0	2	0	0	0	5	1	4	1	3	2	3	2	3	2	0	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:125876244T>C	ENST00000393434.2	-	4	819	c.470A>G	c.(469-471)gAc>gGc	p.D157G	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D167G|ALDH1L1_ENST00000413612.1_5'Flank|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D157G|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D157G	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	157	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CACGGTGTCGTCCGGGAGCAC	0.617																																																	0													97	89	92					3																	125876244		2203	4300	6503	SO:0001583	missense	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.470A>G	3.37:g.125876244T>C	ENSP00000377083:p.Asp157Gly		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.D157G	ENST00000393434.2	37	c.470	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	T	16.47	3.133191	0.56828	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.39	4.39	0.52855	Formyl transferase, N-terminal (3);	0.121842	0.52532	D	0.000063	T	0.78842	0.4347	L	0.48642	1.525	0.80722	D	1	P;P;P	0.46142	0.873;0.86;0.873	P;P;P	0.51945	0.685;0.679;0.685	T	0.80859	-0.1194	10	0.72032	D	0.01	.	11.5973	0.50981	0.0:0.0:0.0:1.0	.	209;64;157	Q59G10;Q9UFA9;O75891	.;.;AL1L1_HUMAN	G	167;157;157;157;157;157;157	ENSP00000273450:D167G;ENSP00000420293:D157G;ENSP00000377083:D157G;ENSP00000377081:D157G;ENSP00000418711:D157G;ENSP00000419826:D157G;ENSP00000419955:D157G	ENSP00000273450:D167G	D	-	2	0	ALDH1L1	127358934	1.000000	0.71417	0.316000	0.25252	0.016000	0.09150	7.608000	0.82898	1.845000	0.53610	0.383000	0.25322	GAC	ALDH1L1	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000144908		0.617	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	-	0	38	0	T	NM_012190		125876244	-1	tier1	-	no_errors	ENST00000393434	ensembl	human	known	74_37	missense	22.22	42	12	SNP	0.915	C	C	125876244	T	C	125876244	3	2	6	1	0	0	0	0	1	0	0	0	494	1667	58	4	2318	4	ALDH1L1	3	125876244	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1143490	125876244	72146186	85	1558											
COL6A6	131873	genome.wustl.edu	37	chr3	130367915	130367915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatatggtcttttaggaAaaccggaatgcccagtgcac	12	9	12	8	1	1	0	0	0	1	0	1	3	1	3	2	4	3	1	2	4	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:130367915A>G	ENST00000358511.6	+	32	5273	c.5242A>G	c.(5242-5244)Aaa>Gaa	p.K1748E	COL6A6_ENST00000453409.2_Missense_Mutation_p.K1748E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1748	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCTTTTAGGAAAACCGGAATG	0.413																																																	0													26	26	26					3																	130367915		1873	4097	5970	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5242A>G	3.37:g.130367915A>G	ENSP00000351310:p.Lys1748Glu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K1748E	ENST00000358511.6	37	c.5242	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	A	3.699	-0.061866	0.07317	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89343	-2.47;-2.5	5.09	2.7	0.31948	.	.	.	.	.	T	0.76335	0.3973	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.56920	-0.7899	9	0.02654	T	1	.	8.5983	0.33729	0.8353:0.0:0.1647:0.0	.	1748	A6NMZ7	CO6A6_HUMAN	E	1748	ENSP00000351310:K1748E;ENSP00000399236:K1748E	ENSP00000351310:K1748E	K	+	1	0	COL6A6	131850605	0.386000	0.25180	0.026000	0.17262	0.633000	0.38033	1.359000	0.34113	0.291000	0.22468	-0.464000	0.05259	AAA	COL6A6	-	NULL	ENSG00000206384		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	21	0	A	NM_001102608		130367915	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.255	G	G	130367915	A	G	130367915	3	3	6	1	0	0	0	0	1	0	0	0	3710	15	1	4	5368	4	COL6A6	3	130367915	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	4491671	130367915	67654515	86	1559											
CLSTN2	64084	genome.wustl.edu	37	chr3	140282817	140282817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtggtcccaagcattGccacagtggtcatcatcatc	9	11	8	13	0	3	0	3	0	0	0	6	0	5	0	3	2	2	1	3	2	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:140282817G>A	ENST00000458420.3	+	16	2687	c.2497G>A	c.(2497-2499)Gcc>Acc	p.A833T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	833					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCAAGCATTGCCACAGTGGT	0.522										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													311	273	286					3																	140282817		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2497G>A	3.37:g.140282817G>A	ENSP00000402460:p.Ala833Thr		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A833T	ENST00000458420.3	37	c.2497	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831912	0.71258	.	.	ENSG00000158258	ENST00000458420	T	0.38560	1.13	5.62	5.62	0.85841	.	0.048813	0.85682	D	0.000000	T	0.51432	0.1674	L	0.52011	1.625	0.80722	D	1	D	0.62365	0.991	P	0.53490	0.727	T	0.42982	-0.9419	9	.	.	.	-8.0607	17.1533	0.86783	0.0:0.0:1.0:0.0	.	833	Q9H4D0	CSTN2_HUMAN	T	833	ENSP00000402460:A833T	.	A	+	1	0	CLSTN2	141765507	1.000000	0.71417	0.998000	0.56505	0.007000	0.05969	8.061000	0.89467	2.647000	0.89833	0.650000	0.86243	GCC	CLSTN2	-	NULL	ENSG00000158258		0.522	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0	51	0	G	NM_022131		140282817	1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	A	A	140282817	G	A	140282817	3	1	6	1	0	0	0	0	1	0	0	0	3569	1319	46	3	2559	3	CLSTN2	3	140282817	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	9914902	140282817	57739613	87	1560											
ZIC1	7545	genome.wustl.edu	37	chr3	147128856	147128856	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgcgcgctccgagaatttAaagatccacaaaaggacgca	14	7	9	11	5	0	2	0	0	0	2	3	4	2	3	2	1	0	2	2	1	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:147128856A>C	ENST00000282928.4	+	1	1686	c.957A>C	c.(955-957)ttA>ttC	p.L319F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	319					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCGAGAATTTAAAGATCCACA	0.572																																																	0													46	50	48					3																	147128856		2203	4300	6503	SO:0001583	missense	0			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.957A>C	3.37:g.147128856A>C	ENSP00000282928:p.Leu319Phe		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L319F	ENST00000282928.4	37	c.957	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090476	0.55968	.	.	ENSG00000152977	ENST00000282928	T	0.52057	0.68	3.89	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	T	0.64483	0.2602	M	0.73753	2.245	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.67027	-0.5774	10	0.87932	D	0	.	11.2169	0.48831	0.3548:0.6452:0.0:0.0	.	319	Q15915	ZIC1_HUMAN	F	319	ENSP00000282928:L319F	ENSP00000282928:L319F	L	+	3	2	ZIC1	148611546	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.304000	0.33482	0.449000	0.26747	0.459000	0.35465	TTA	ZIC1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152977		0.572	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	-	0	49	0	A	NM_003412		147128856	1	tier1	-	no_errors	ENST00000282928	ensembl	human	known	74_37	missense	22.22	42	12	SNP	1.000	C	C	147128856	A	C	147128856	3	2	6	1	0	0	0	0	1	0	0	0	17726	359	13	4	959	4	ZIC1	3	147128856	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	6846039	147128856	50893574	88	1561											
WWTR1	25937	genome.wustl.edu	37	chr3	149260124	149260124	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatggaaagccatacctGcctcatgagctcctcttggc	9	9	8	15	0	2	1	1	1	1	0	3	2	3	2	5	2	4	1	5	2	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:149260124G>A	ENST00000465804.1	-	5	1025	c.769C>T	c.(769-771)Cag>Tag	p.Q257*	WWTR1_ENST00000360632.3_Nonsense_Mutation_p.Q257*|WWTR1_ENST00000467467.1_Nonsense_Mutation_p.Q257*	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	257					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AGCCATACCTGCCTCATGAGC	0.537			T	CAMTA1	epitheliod hemangioendothelioma																																			Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													115	99	104					3																	149260124		2203	4300	6503	SO:0001587	stop_gained	0			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.769C>T	3.37:g.149260124G>A	ENSP00000419465:p.Gln257*		D3DNH7|Q8N3P2|Q9Y3W6	Nonsense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.Q257*	ENST00000465804.1	37	c.769	CCDS3144.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.177590	0.98691	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	.	.	.	5.16	5.16	0.70880	.	0.123941	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9579	18.8393	0.92176	0.0:0.0:1.0:0.0	.	.	.	.	X	257;257;257;115	.	ENSP00000353847:Q257X	Q	-	1	0	WWTR1	150742814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	2.676000	0.91093	0.655000	0.94253	CAG	WWTR1	-	NULL	ENSG00000018408		0.537	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWTR1	HGNC	protein_coding	OTTHUMT00000356498.1	-	0	44	0	G	NM_015472		149260124	-1	tier1	-	no_errors	ENST00000360632	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	A	A	149260124	G	A	149260124	4	1	6	1	0	0	0	0	0	1	0	0	17466	1328	46	3	449	3	WWTR1	3	149260124	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2131268	149260124	48762306	89	1562											
KCNAB1	7881	genome.wustl.edu	37	chr3	156254468	156254468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccaaagatgacatcaCatgtggtaaatgagattgat	14	12	8	7	0	2	4	1	3	1	2	3	5	2	4	1	1	0	1	1	1	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr3:156254468C>T	ENST00000490337.1	+	14	1256	c.1192C>T	c.(1192-1194)Cat>Tat	p.H398Y	KCNAB1_ENST00000471742.1_Missense_Mutation_p.H387Y|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.H351Y|KCNAB1_ENST00000302490.8_Missense_Mutation_p.H380Y|KCNAB1_ENST00000389636.5_Missense_Mutation_p.H369Y	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	398					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATGACATCACATGTGGTAAA	0.408																																																	0													174	154	161					3																	156254468		2203	4300	6503	SO:0001583	missense	0			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1192C>T	3.37:g.156254468C>T	ENSP00000419952:p.His398Tyr		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.H398Y	ENST00000490337.1	37	c.1192	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271261	0.59649	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.8	5.8	0.92144	NADP-dependent oxidoreductase domain (3);	0.146599	0.64402	D	0.000009	T	0.45994	0.1370	N	0.20986	0.625	0.80722	D	1	P;B;B;B;P	0.35192	0.489;0.155;0.187;0.433;0.489	P;B;B;B;P	0.46629	0.522;0.306;0.433;0.388;0.522	T	0.47086	-0.9144	10	0.87932	D	0	-4.3289	20.063	0.97692	0.0:1.0:0.0:0.0	.	369;351;380;387;398	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	Y	398;369;387;380;351	ENSP00000419952:H398Y;ENSP00000374287:H369Y;ENSP00000418956:H387Y;ENSP00000305858:H380Y;ENSP00000374285:H351Y	ENSP00000305858:H380Y	H	+	1	0	KCNAB1	157737162	0.604000	0.26932	0.954000	0.39281	0.596000	0.36781	2.370000	0.44240	2.741000	0.93983	0.650000	0.86243	CAT	KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000169282		0.408	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	-	0	34	0	C	NM_003471		156254468	1	tier1	-	no_errors	ENST00000490337	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.989	T	T	156254468	C	T	156254468	3	4	6	1	0	0	0	0	1	0	0	0	8036	478	17	3	1717	3	KCNAB1	3	156254468	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	6994344	156254468	41767962	90	1563											
SLIT2	9353	genome.wustl.edu	37	chr4	20618698	20618698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctgtgagccatgccacaAgaaggtgtgtgcccatggca	9	8	14	10	0	0	2	0	1	0	1	0	2	0	2	3	3	3	2	3	3	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:20618698A>G	ENST00000504154.1	+	35	4265	c.4013A>G	c.(4012-4014)aAg>aGg	p.K1338R	SLIT2_ENST00000503837.1_Missense_Mutation_p.K1334R|SLIT2_ENST00000273739.5_Missense_Mutation_p.K1351R|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1330R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1338	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCATGCCACAAGAAGGTGTGT	0.597																																																	0													60	58	59					4																	20618698		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4013A>G	4.37:g.20618698A>G	ENSP00000422591:p.Lys1338Arg		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1338R	ENST00000504154.1	37	c.4013	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	A	15.20	2.763463	0.49574	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80480	-1.37;-1.38;-1.3;-1.35	5.96	2.24	0.28232	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.177965	0.64402	N	0.000011	T	0.61248	0.2332	N	0.11341	0.13	0.42374	D	0.992464	B;B	0.16603	0.018;0.003	B;B	0.19148	0.024;0.008	T	0.47355	-0.9124	10	0.30078	T	0.28	.	9.5197	0.39126	0.8017:0.0:0.1983:0.0	.	1330;1338	O94813-3;O94813	.;SLIT2_HUMAN	R	1330;1338;1351;1334;1334	ENSP00000427548:K1330R;ENSP00000422591:K1338R;ENSP00000273739:K1351R;ENSP00000422261:K1334R	ENSP00000273739:K1351R	K	+	2	0	SLIT2	20227796	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.124000	0.42006	0.171000	0.19730	0.528000	0.53228	AAG	SLIT2	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000145147		0.597	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	32	0	A			20618698	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	G	G	20618698	A	G	20618698	3	3	6	1	0	0	0	0	1	0	0	0	14785	72	3	4	4151	4	SLIT2	4	20618698	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09		20618698	170535578	91	1564											
CCDC149	91050	genome.wustl.edu	37	chr4	24833262	24833262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccatgatcctcagatagCagatcctgaactagatagga	14	9	8	10	0	1	5	1	2	0	3	4	6	4	6	3	1	2	1	3	1	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:24833262C>T	ENST00000389609.4	-	10	974	c.831G>A	c.(829-831)ctG>ctA	p.L277L	CCDC149_ENST00000504487.1_Silent_p.L277L|CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000428116.2_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	222										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTCAGATAGCAGATCCTGAA	0.433																																																	0													97	89	92					4																	24833262		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.831G>A	4.37:g.24833262C>T			A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Silent	SNP	pfam_Coiled-coil_dom-contain_pr_149	p.L277	ENST00000389609.4	37	c.831	CCDS33967.2	4																																																																																			CCDC149	-	pfam_Coiled-coil_dom-contain_pr_149	ENSG00000181982		0.433	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1	-	0	47	0	C	NM_173463		24833262	-1	tier1	-	no_errors	ENST00000504487	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	T	T	24833262	C	T	24833262	2	4	6	1	0	0	0	0	0	0	0	1	2790	697	25	3		3	CCDC149	4	24833262	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4214564	24833262	166321014	92	1565											
GRXCR1	389207	genome.wustl.edu	37	chr4	42895333	42895333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggccacggaaagtccGgtttcggatcgcgtcctctc	7	9	12	13	5	1	1	0	1	1	0	6	3	3	3	3	4	0	1	3	4	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:42895333G>A	ENST00000399770.2	+	1	50	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	17					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CGGAAAGTCCGGTTTCGGATC	0.507																																																	0													106	114	111					4																	42895333		2018	4181	6199	SO:0001583	missense	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.50G>A	4.37:g.42895333G>A	ENSP00000382670:p.Arg17Gln			Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.R17Q	ENST00000399770.2	37	c.50	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748413	0.89663	.	.	ENSG00000215203	ENST00000399770	T	0.28454	1.61	5.37	5.37	0.77165	.	0.000000	0.64402	U	0.000001	T	0.54581	0.1867	M	0.64404	1.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	T	0.55003	-0.8208	10	0.59425	D	0.04	2.609	18.1022	0.89509	0.0:0.0:1.0:0.0	.	17	A8MXD5	GRCR1_HUMAN	Q	17	ENSP00000382670:R17Q	ENSP00000382670:R17Q	R	+	2	0	GRXCR1	42590090	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.470000	0.97683	2.500000	0.84329	0.650000	0.86243	CGG	GRXCR1	-	NULL	ENSG00000215203		0.507	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	-	0	34	0	G	NM_001080476		42895333	1	tier1	-	no_errors	ENST00000399770	ensembl	human	known	74_37	missense	11.32	47	6	SNP	1.000	A	A	42895333	G	A	42895333	3	1	6	1	0	0	0	0	1	0	0	0	6839	1116	39	1	52	1	GRXCR1	4	42895333	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	18062071	42895333	148258943	93	1566											
GABRA2	2555	genome.wustl.edu	37	chr4	46314669	46314669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagtcgaaggatattcataGgacctttaaattttaaacgt	14	15	7	5	2	1	0	1	0	0	0	2	3	1	2	1	2	1	0	1	2	8	8			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:46314669G>C	ENST00000510861.1	-	5	493	c.320C>G	c.(319-321)cCt>cGt	p.P107R	GABRA2_ENST00000507069.1_Missense_Mutation_p.P107R|GABRA2_ENST00000356504.1_Missense_Mutation_p.P107R|GABRA2_ENST00000515082.1_Missense_Mutation_p.P107R|GABRA2_ENST00000540012.1_Missense_Mutation_p.P52R|GABRA2_ENST00000381620.4_Missense_Mutation_p.P107R|GABRA2_ENST00000514090.1_Missense_Mutation_p.P107R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	107					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GATATTCATAGGACCTTTAAA	0.279																																																	0													50	53	52					4																	46314669		2200	4299	6499	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.320C>G	4.37:g.46314669G>C	ENSP00000421828:p.Pro107Arg		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P52R	ENST00000510861.1	37	c.155	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670309	0.88348	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88187	0.6369	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.996;1.0	D	0.88171	0.2864	10	0.72032	D	0.01	.	19.3629	0.94448	0.0:0.0:1.0:0.0	.	52;107;107	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	R	107;107;107;107;52;107;107;107;107	ENSP00000421828:P107R;ENSP00000421300:P107R;ENSP00000371033:P107R;ENSP00000348897:P107R;ENSP00000444409:P52R;ENSP00000427603:P107R;ENSP00000423840:P107R;ENSP00000424362:P107R;ENSP00000424093:P107R	ENSP00000348897:P107R	P	-	2	0	GABRA2	46009426	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.869000	0.99810	2.817000	0.96982	0.563000	0.77884	CCT	GABRA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000151834		0.279	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0	61	0	G			46314669	-1	tier1	-	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	13.89	62	10	SNP	1.000	C	C	46314669	G	C	46314669	3	2	6	1	0	0	0	0	1	0	0	0	6185	1000	35	5	1059	5	GABRA2	4	46314669	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3419336	46314669	144839607	94	1567											
FRAS1	80144	genome.wustl.edu	37	chr4	79461755	79461755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaccatctcagggccccGggtccagcgctctctcacag	7	7	10	17	2	3	1	2	1	2	0	6	1	4	1	4	2	1	1	4	2	0	0	rs375219965		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:79461755G>A	ENST00000264895.6	+	74	11956	c.11516G>A	c.(11515-11517)cGg>cAg	p.R3839Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3835					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAGGGCCCCGGGTCCAGCGC	0.562																																																	0								G	GLN/ARG	0,4026		0,0,2013	46	49	48		11516	6.1	1	4		48	1,8333		0,1,4166	no	missense	FRAS1	NM_025074.6	43	0,1,6179	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	3839/4013	79461755	1,12359	2013	4167	6180	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11516G>A	4.37:g.79461755G>A	ENSP00000264895:p.Arg3839Gln		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.R3839Q	ENST00000264895.6	37	c.11516	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868951	0.72065	0.0	1.2E-4	ENSG00000138759	ENST00000264895	T	0.68765	-0.35	6.06	6.06	0.98353	.	0.063063	0.64402	D	0.000019	T	0.80854	0.4703	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78119	-0.2328	10	0.46703	T	0.11	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	3839	E9PHH6	.	Q	3839	ENSP00000264895:R3839Q	ENSP00000264895:R3839Q	R	+	2	0	FRAS1	79680779	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	7.713000	0.84693	2.879000	0.98667	0.650000	0.86243	CGG	FRAS1	-	NULL	ENSG00000138759		0.562	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		-	0	17	0	G			79461755	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	A	A	79461755	G	A	79461755	3	1	6	1	0	0	0	0	1	0	0	0	6066	1116	39	1	11885	1	FRAS1	4	79461755	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	33147086	79461755	111692521	95	1568											
SLC10A6	345274	genome.wustl.edu	37	chr4	87754468	87754468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatacagacctatgttctGataaggaatggtgagattct	12	12	9	8	0	2	3	0	2	2	2	2	5	2	4	2	2	1	1	2	2	4	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:87754468G>T	ENST00000273905.6	-	2	634	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	163					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCTATGTTCTGATAAGGAATG	0.448																																																	0													108	104	105					4																	87754468		2203	4300	6503	SO:0001583	missense	0			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.487C>A	4.37:g.87754468G>T	ENSP00000273905:p.Gln163Lys		Q70EX7	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.Q163K	ENST00000273905.6	37	c.487	CCDS3614.1	4	.	.	.	.	.	.	.	.	.	.	G	2.097	-0.407096	0.04832	.	.	ENSG00000145283	ENST00000273905	T	0.10382	2.88	5.12	4.25	0.50352	.	0.334641	0.25172	N	0.032598	T	0.04363	0.0120	N	0.10809	0.05	0.27655	N	0.947278	B	0.17038	0.02	B	0.16722	0.016	T	0.42327	-0.9458	10	0.05959	T	0.93	-2.9615	6.6012	0.22701	0.0911:0.0:0.7298:0.1791	.	163	Q3KNW5	SOAT_HUMAN	K	163	ENSP00000273905:Q163K	ENSP00000273905:Q163K	Q	-	1	0	SLC10A6	87973492	1.000000	0.71417	0.983000	0.44433	0.522000	0.34438	1.233000	0.32648	2.406000	0.81754	0.655000	0.94253	CAG	SLC10A6	-	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	ENSG00000145283		0.448	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	HGNC	protein_coding	OTTHUMT00000253043.2	-	0	39	0	G	NM_197965		87754468	-1	tier1	-	no_errors	ENST00000273905	ensembl	human	known	74_37	missense	8.89	40	4	SNP	0.957	T	T	87754468	G	T	87754468	3	4	6	1	0	0	0	0	1	0	0	0	14423	1299	45	3	666	3	SLC10A6	4	87754468	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	8292713	87754468	103399808	96	1569											
HSD17B13	345275	genome.wustl.edu	37	chr4	88235037	88235037	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcagagacatgaggttttGataccagtttttcccaaggc	10	11	12	8	0	0	3	0	2	0	1	1	4	1	3	2	3	1	3	2	3	2	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:88235037G>C	ENST00000328546.4	-	5	697	c.633C>G	c.(631-633)atC>atG	p.I211M	HSD17B13_ENST00000302219.6_Missense_Mutation_p.I175M	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	211						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATGAGGTTTTGATACCAGTTT	0.413																																																	0													114	110	111					4																	88235037		2203	4300	6503	SO:0001583	missense	0				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.633C>G	4.37:g.88235037G>C	ENSP00000333300:p.Ile211Met		A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I211M	ENST00000328546.4	37	c.633	CCDS3618.1	4	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240626	0.58995	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.92446	-3.04;-3.04	5.55	4.71	0.59529	NAD(P)-binding domain (1);	0.097576	0.42548	D	0.000693	D	0.95768	0.8623	M	0.86573	2.825	0.42739	D	0.99373	P;P	0.48911	0.917;0.865	D;P	0.65443	0.935;0.863	D	0.95865	0.8886	10	0.87932	D	0	.	9.9914	0.41874	0.0733:0.0:0.7887:0.1379	.	175;211	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	M	175;211	ENSP00000305438:I175M;ENSP00000333300:I211M	ENSP00000305438:I175M	I	-	3	3	HSD17B13	88454061	1.000000	0.71417	0.987000	0.45799	0.843000	0.47879	2.009000	0.40903	1.334000	0.45468	0.655000	0.94253	ATC	HSD17B13	-	prints_Glc/ribitol_DH	ENSG00000170509		0.413	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1	-	0	33	0	G	NM_178135		88235037	-1	tier1	-	no_errors	ENST00000328546	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	C	C	88235037	G	C	88235037	3	2	6	1	0	0	0	0	1	0	0	0	7409	1280	45	5	281	5	HSD17B13	4	88235037	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	480569	88235037	102919239	97	1570											
GSTCD	79807	genome.wustl.edu	37	chr4	106638997	106638997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgttgaaatacagattaTttcaaggcaggagctcccac	13	10	10	8	0	1	2	1	1	0	1	2	4	2	4	1	3	2	3	1	3	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:106638997T>A	ENST00000515279.1	+	2	447	c.227T>A	c.(226-228)aTt>aAt	p.I76N	GSTCD_ENST00000394728.3_Missense_Mutation_p.I76N|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.I76N|GSTCD_ENST00000507281.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	76						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		ATACAGATTATTTCAAGGCAG	0.388																																																	0													97	97	97					4																	106638997		2203	4300	6503	SO:0001583	missense	0			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.227T>A	4.37:g.106638997T>A	ENSP00000422354:p.Ile76Asn		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.I76N	ENST00000515279.1	37	c.227	CCDS43257.1	4	.	.	.	.	.	.	.	.	.	.	T	16.58	3.162936	0.57476	.	.	ENSG00000138780	ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.55	4.37	0.52481	.	0.390561	0.27922	N	0.017302	T	0.49966	0.1588	M	0.78049	2.395	0.09310	N	0.999991	P;P	0.48834	0.916;0.813	P;P	0.46389	0.448;0.515	T	0.51172	-0.8739	9	0.87932	D	0	-18.703	11.2298	0.48905	0.0:0.0716:0.0:0.9284	.	76;76	Q8NEC7;D6RCC9	GSTCD_HUMAN;.	N	76	.	ENSP00000353695:I76N	I	+	2	0	GSTCD	106858446	0.180000	0.23148	0.002000	0.10522	0.923000	0.55619	2.620000	0.46410	0.961000	0.38030	0.533000	0.62120	ATT	GSTCD	-	NULL	ENSG00000138780		0.388	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	HGNC	protein_coding	OTTHUMT00000363981.1	-	0	59	0	T	NM_024751		106638997	1	tier1	-	no_errors	ENST00000360505	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.039	A	A	106638997	T	A	106638997	3	1	6	1	0	0	0	0	1	0	0	0	6862	1493	52	5	229	5	GSTCD	4	106638997	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	18403960	106638997	84515279	98	1571											
ANK2	287	genome.wustl.edu	37	chr4	114274919	114274919	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaaaagcagaaacaaaaAgaggaaggtttacaagctag	23	4	10	4	0	0	3	0	0	0	3	0	4	0	4	0	2	4	3	0	2	10	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:114274919A>G	ENST00000357077.4	+	38	5198	c.5145A>G	c.(5143-5145)aaA>aaG	p.K1715K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.K1682K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1715					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAAACAAAAAGAGGAAGGTT	0.418																																																	0													132	140	137					4																	114274919		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5145A>G	4.37:g.114274919A>G			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.K1715	ENST00000357077.4	37	c.5145	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	20	0	A	NM_001148		114274919	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	69.23	4	9	SNP	0.762	G	G	114274919	A	G	114274919	2	3	6	1	0	0	0	0	0	0	0	1	621	69	3	4		4	ANK2	4	114274919	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	7635922	114274919	76879357	99	1572											
TNIP3	79931	genome.wustl.edu	37	chr4	122068273	122068273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagctcctctttctcttgAttaagtctctctcgatccga	6	17	6	12	2	4	1	0	1	4	0	9	3	6	1	2	0	1	2	2	0	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:122068273A>T	ENST00000509841.1	-	10	975	c.897T>A	c.(895-897)aaT>aaA	p.N299K	TNIP3_ENST00000057513.3_Missense_Mutation_p.N222K|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.N292K|TNIP3_ENST00000454328.1_Missense_Mutation_p.N222K	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTTTCTCTTGATTAAGTCTCT	0.383																																																	0													224	216	219					4																	122068273		2203	4300	6503	SO:0001583	missense	0			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.897T>A	4.37:g.122068273A>T	ENSP00000426613:p.Asn299Lys			Missense_Mutation	SNP	NULL	p.N222K	ENST00000509841.1	37	c.666	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	A	13.39	2.223551	0.39300	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32	5.4	1.52	0.23074	.	0.231041	0.37012	N	0.002300	D	0.94205	0.8140	M	0.62723	1.935	0.25676	N	0.98584	B;B	0.24426	0.103;0.029	B;B	0.22880	0.042;0.015	D	0.88151	0.2851	10	0.59425	D	0.04	-7.818	5.677	0.17753	0.6551:0.1326:0.2123:0.0	.	292;222	B4DVF5;Q96KP6	.;TNIP3_HUMAN	K	222;222;292;299	ENSP00000057513:N222K;ENSP00000411817:N222K;ENSP00000427106:N292K;ENSP00000426613:N299K	ENSP00000057513:N222K	N	-	3	2	TNIP3	122287723	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	1.231000	0.32624	0.042000	0.15717	0.460000	0.39030	AAT	TNIP3	-	NULL	ENSG00000050730		0.383	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	-	0	52	0	A	NM_024873		122068273	-1	tier1	-	no_errors	ENST00000057513	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	T	T	122068273	A	T	122068273	3	4	6	1	0	0	0	0	1	0	0	0	16363	330	12	5	331	5	TNIP3	4	122068273	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	7793354	122068273	69086003	100	1573											
IL21	59067	genome.wustl.edu	37	chr4	123542066	123542066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcattctaatcatgtggCgatcttgaccttgggagctt	8	13	11	9	2	3	1	1	1	2	0	3	4	3	2	1	2	1	2	1	2	1	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:123542066C>T	ENST00000264497.3	-	1	158	c.101G>A	c.(100-102)cGc>cAc	p.R34H	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	27					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						AATCATGTGGCGATCTTGACC	0.398																																																	0													139	133	135					4																	123542066		2203	4300	6503	SO:0001583	missense	0			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"Interleukins and interleukin receptors"	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.101G>A	4.37:g.123542066C>T	ENSP00000264497:p.Arg34His		A5J0L4	Missense_Mutation	SNP	pfam_IL-15/IL-21_fam	p.R34H	ENST00000264497.3	37	c.101	CCDS3727.1	4	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025754	0.35701	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.1	3.33	0.38152	.	0.278577	0.26092	N	0.026394	T	0.42988	0.1227	L	0.47716	1.5	0.32156	N	0.583601	B;B	0.14438	0.008;0.01	B;B	0.16289	0.009;0.015	T	0.48854	-0.8998	9	0.51188	T	0.08	-2.2109	8.1174	0.30950	0.1657:0.7506:0.0:0.0838	.	27;27	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	H	34	.	ENSP00000264497:R34H	R	-	2	0	IL21	123761516	0.000000	0.05858	0.925000	0.36789	0.899000	0.52679	0.295000	0.19065	0.683000	0.31428	0.655000	0.94253	CGC	IL21	-	pfam_IL-15/IL-21_fam	ENSG00000138684		0.398	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21	HGNC	protein_coding	OTTHUMT00000256713.1	-	0	20	0	C	NM_021803		123542066	-1	tier1	-	no_errors	ENST00000264497	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.946	T	T	123542066	C	T	123542066	3	4	6	1	0	0	0	0	1	0	0	0	7697	768	27	1	407	1	IL21	4	123542066	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1473793	123542066	67612210	101	1574											
CCRN4L	25819	genome.wustl.edu	37	chr4	139964386	139964386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaggaatgcagggccGtcctgcacacccgacctccc	7	8	10	16	2	1	1	0	1	1	0	3	3	3	2	5	2	2	2	5	2	1	2	rs200904457		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:139964386G>A	ENST00000280614.2	+	2	542	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	117					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ATGCAGGGCCGTCCTGCACAC	0.557																																					Ovarian(144;566 1842 19130 21379 22209)												0								G	ILE/VAL	0,4406		0,0,2203	89	88	89		349	4	0.9	4		89	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCRN4L	NM_012118.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	117/432	139964386	1,13005	2203	4300	6503	SO:0001583	missense	0			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"CCR4-like (carbon catabolite repression 4, S.cerevisiae)"			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.349G>A	4.37:g.139964386G>A	ENSP00000280614:p.Val117Ile		D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.V117I	ENST00000280614.2	37	c.349	CCDS3743.1	4	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657995	0.47467	0.0	1.16E-4	ENSG00000151014	ENST00000280614	T	0.30981	1.51	4.87	4.03	0.46877	.	0.285590	0.34133	N	0.004222	T	0.28200	0.0696	L	0.53249	1.67	0.80722	D	1	B;B	0.25667	0.008;0.131	B;B	0.17433	0.003;0.018	T	0.04427	-1.0952	9	.	.	.	-24.869	13.3954	0.60849	0.0767:0.0:0.9233:0.0	.	117;117	Q9UK39;Q8WTX0	NOCT_HUMAN;.	I	117	ENSP00000280614:V117I	.	V	+	1	0	CCRN4L	140183836	1.000000	0.71417	0.908000	0.35775	0.974000	0.67602	5.958000	0.70330	1.064000	0.40671	-0.228000	0.12330	GTC	CCRN4L	-	NULL	ENSG00000151014		0.557	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3		0	27	0	G	NM_012118		139964386	1			no_errors	ENST00000280614	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.996	A	A	139964386	G	A	139964386	3	1	6	1	0	0	0	0	1	0	0	0	2958	1145	40	1	355	1	CCRN4L	4	139964386	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	16422320	139964386	51189890	102	1575											
TBC1D9	23158	genome.wustl.edu	37	chr4	141560556	141560556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaatctcatctgttcaatCaaatctgcccggatagttcc	10	14	6	11	1	5	1	3	1	3	0	7	2	6	2	2	1	1	2	2	1	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:141560556C>G	ENST00000442267.2	-	14	2438	c.2364G>C	c.(2362-2364)ttG>ttC	p.L788F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	788							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TCTGTTCAATCAAATCTGCCC	0.438																																																	0													73	71	72					4																	141560556		1916	4114	6030	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2364G>C	4.37:g.141560556C>G	ENSP00000411197:p.Leu788Phe		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.L788F	ENST00000442267.2	37	c.2364	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720902	0.48728	.	.	ENSG00000109436	ENST00000442267	T	0.08458	3.09	5.42	1.73	0.24493	.	0.148834	0.46145	D	0.000314	T	0.07324	0.0185	L	0.38175	1.15	0.49798	D	0.999826	B	0.26845	0.161	B	0.30943	0.122	T	0.25710	-1.0124	10	0.54805	T	0.06	-6.3228	7.3882	0.26895	0.0:0.6375:0.1102:0.2523	.	788	Q6ZT07	TBCD9_HUMAN	F	788	ENSP00000411197:L788F	ENSP00000411197:L788F	L	-	3	2	TBC1D9	141780006	0.999000	0.42202	0.957000	0.39632	0.995000	0.86356	0.716000	0.25836	0.269000	0.21961	0.655000	0.94253	TTG	TBC1D9	-	NULL	ENSG00000109436		0.438	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0	48	0	C	NM_015130		141560556	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	G	G	141560556	C	G	141560556	3	3	6	1	0	0	0	0	1	0	0	0	15674	825	29	5	1468	5	TBC1D9	4	141560556	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1596170	141560556	49593720	103	1576											
PRMT10	90826	genome.wustl.edu	37	chr4	148594174	148594174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtaagagtttgatccctgCttccatcttgtttgctgcca	7	16	8	10	0	1	2	0	1	1	1	3	2	3	2	3	0	3	5	3	0	1	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:148594174C>T	ENST00000322396.6	-	4	921	c.679G>A	c.(679-681)Gca>Aca	p.A227T	PRMT10_ENST00000541232.1_Missense_Mutation_p.A114T	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		227	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TTGATCCCTGCTTCCATCTTG	0.388																																																	0													161	151	154					4																	148594174		2203	4300	6503	SO:0001583	missense	0																														ENST00000322396.6:c.679G>A	4.37:g.148594174C>T	ENSP00000314396:p.Ala227Thr		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A227T	ENST00000322396.6	37	c.679	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329425	0.24167	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.21932	1.98;1.98	5.44	2.28	0.28536	.	0.857067	0.10707	N	0.643371	T	0.11665	0.0284	N	0.12527	0.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25779	-1.0122	10	0.52906	T	0.07	-6.1689	6.9053	0.24305	0.0:0.5714:0.0:0.4286	.	227	Q6P2P2	ANM10_HUMAN	T	227;114	ENSP00000314396:A227T;ENSP00000439508:A114T	ENSP00000314396:A227T	A	-	1	0	PRMT10	148813624	0.160000	0.22878	0.759000	0.31340	0.955000	0.61496	0.897000	0.28390	0.633000	0.30452	0.655000	0.94253	GCA	PRMT10	-	pfam_Ribosomal-L11_MeTrfase_PrmA	ENSG00000164169		0.388	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1		0	67	0	C			148594174	-1			no_errors	ENST00000322396	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.089	T	T	148594174	C	T	148594174	3	4	6	1	0	0	0	0	1	0	0	0	12578	797	28	3	1894	3	PRMT10	4	148594174	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	7033618	148594174	42560102	104	1577											
LRBA	987	genome.wustl.edu	37	chr4	151682972	151682972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgataaaagcaaggcctgCattcttctgaatagaatttt	13	14	7	7	1	2	2	0	1	2	1	3	3	2	2	1	1	2	2	1	1	6	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:151682972C>A	ENST00000357115.3	-	35	5851	c.5608G>T	c.(5608-5610)Gca>Tca	p.A1870S	LRBA_ENST00000510413.1_Missense_Mutation_p.A1870S|LRBA_ENST00000507224.1_Missense_Mutation_p.A1870S|LRBA_ENST00000535741.1_Missense_Mutation_p.A1870S	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1870						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GCAAGGCCTGCATTCTTCTGA	0.279																																																	0													50	59	56					4																	151682972		2203	4283	6486	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5608G>T	4.37:g.151682972C>A	ENSP00000349629:p.Ala1870Ser		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.A1870S	ENST00000357115.3	37	c.5608	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.839700|4.839700	0.91117|0.91117	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.65178|.	0.29;0.43;0.3;-0.14|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.063550|.	0.64402|.	D|.	0.000006|.	T|T	0.82056|0.82056	0.4954|0.4954	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.78314|.	0.991;0.988|.	D|D	0.83753|0.83753	0.0210|0.0210	10|5	0.66056|.	D|.	0.02|.	.|.	18.5067|18.5067	0.90900|0.90900	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1870;1870|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	S|I	1870|522	ENSP00000446299:A1870S;ENSP00000421552:A1870S;ENSP00000349629:A1870S;ENSP00000422180:A1870S|.	ENSP00000349629:A1870S|.	A|M	-|-	1|3	0|0	LRBA|LRBA	151902422|151902422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.799000|0.799000	0.45148|0.45148	7.128000|7.128000	0.77217|0.77217	2.352000|2.352000	0.79861|0.79861	0.655000|0.655000	0.94253|0.94253	GCA|ATG	LRBA	-	NULL	ENSG00000198589		0.279	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1		0	56	0	C			151682972	-1			no_errors	ENST00000357115	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	151682972	C	A	151682972	3	1	6	1	0	0	0	0	1	0	0	0	8966	710	25	3	3079	3	LRBA	4	151682972	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3088798	151682972	39471304	105	1578											
GLRB	2743	genome.wustl.edu	37	chr4	158041814	158041814	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggataagaccaaacttcaaaGgtttgtctcccccatataaa	15	10	6	10	0	2	1	1	0	1	1	3	2	2	2	3	2	1	1	3	2	6	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:158041814G>T	ENST00000264428.4	+	3	499	c.229G>T	c.(229-231)Ggc>Tgc	p.G77C	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site_p.G77C|GLRB_ENST00000509282.1_Splice_Site_p.G77C	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	77					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	AAACTTCAAAGGTTTGTCTCC	0.338																																																	0													78	80	79					4																	158041814		2203	4300	6503	SO:0001630	splice_region_variant	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.229+1G>T	4.37:g.158041814G>T			A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G77C	ENST00000264428.4	37	c.229	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154962	0.78114	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	T;T;T	0.79940	-1.32;-1.32;-1.32	5.44	4.6	0.57074	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.90943	0.7153	M	0.89658	3.05	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92735	0.6203	10	0.87932	D	0	.	14.2532	0.66033	0.072:0.0:0.928:0.0	.	77	P48167	GLRB_HUMAN	C	77	ENSP00000264428:G77C;ENSP00000441873:G77C;ENSP00000427186:G77C	ENSP00000264428:G77C	G	+	1	0	GLRB	158261264	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.225000	0.95219	1.438000	0.47492	0.484000	0.47621	GGC	GLRB	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000109738		0.338	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0	44	0	G	NM_000824	Missense_Mutation	158041814	1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	T	T	158041814	G	T	158041814	5	4	6	1	0	0	0	0	0	0	1	0	6484	1014	35	3	235	3	GLRB	4	158041814	Splice_Site	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	6358842	158041814	33112462	106	1579											
ADAM29	11086	genome.wustl.edu	37	chr4	175898111	175898111	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccataagtgcccagatgacTtttatgtggaagatggaatt	12	12	10	7	0	0	3	0	1	0	2	0	5	0	5	2	2	1	0	2	2	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:175898111T>G	ENST00000359240.3	+	5	2105	c.1435T>G	c.(1435-1437)Ttt>Gtt	p.F479V	ADAM29_ENST00000445694.1_Missense_Mutation_p.F479V|ADAM29_ENST00000514159.1_Missense_Mutation_p.F479V|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.F479V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	479	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCCAGATGACTTTTATGTGGA	0.463																																					Ovarian(140;1727 1835 21805 25838 41440)												0													105	100	102					4																	175898111		2203	4300	6503	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1435T>G	4.37:g.175898111T>G	ENSP00000352177:p.Phe479Val		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.F479V	ENST00000359240.3	37	c.1435	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	T	0.034	-1.314766	0.01331	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	3.69	1.84	0.25277	Blood coagulation inhibitor, Disintegrin (5);	0.861893	0.09295	N	0.821841	T	0.01976	0.0062	N	0.00069	-2.28	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41448	-0.9508	9	.	.	.	.	10.2953	0.43620	0.0:0.0:0.599:0.401	.	479	Q9UKF5	ADA29_HUMAN	V	479	ENSP00000352177:F479V;ENSP00000414544:F479V;ENSP00000384229:F479V;ENSP00000423517:F479V	.	F	+	1	0	ADAM29	176134686	0.272000	0.24172	0.042000	0.18584	0.032000	0.12392	0.332000	0.19751	0.464000	0.27142	-0.155000	0.13514	TTT	ADAM29	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000168594		0.463	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		-	0	25	0	T			175898111	1	tier1	-	no_errors	ENST00000359240	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.420	G	G	175898111	T	G	175898111	3	3	6	1	0	0	0	0	1	0	0	0	247	1609	56	4	1437	4	ADAM29	4	175898111	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	17856297	175898111	15256165	107	1580											
GPM6A	2823	genome.wustl.edu	37	chr4	176622760	176622760	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgtgtctccagcagttcTtgccatctcaaagtaggttt	8	14	9	10	0	3	0	1	0	3	0	5	0	3	0	2	1	2	4	2	1	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:176622760T>G	ENST00000280187.7	-	3	241	c.196A>C	c.(196-198)Aga>Cga	p.R66R	GPM6A_ENST00000506894.1_Silent_p.R55R|GPM6A_ENST00000393658.2_Silent_p.R66R|GPM6A_ENST00000515090.1_Silent_p.R59R	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	66					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)	p.R66R(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCAGCAGTTCTTGCCATCTCA	0.418																																																	1	Substitution - coding silent(1)	large_intestine(1)											161	151	155					4																	176622760		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.196A>C	4.37:g.176622760T>G			B7Z642|E9PHI5|Q92602	Silent	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.R66	ENST00000280187.7	37	c.196	CCDS3824.1	4																																																																																			GPM6A	-	pfam_Myelin_PLP	ENSG00000150625		0.418	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	HGNC	protein_coding	OTTHUMT00000362163.1		0	39	0	T			176622760	-1			no_errors	ENST00000280187	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	G	G	176622760	T	G	176622760	2	3	6	1	0	0	0	0	0	0	0	1	6641	1617	56	4		4	GPM6A	4	176622760	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	724649	176622760	14531516	108	1581											
ODZ3	55714	genome.wustl.edu	37	chr4	183267985	183267985	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgagactttggggcaggggGgtcaaatcaggccgcagctc	9	7	16	9	1	2	1	2	1	0	1	3	2	2	1	1	6	1	3	1	6	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:183267985G>T	ENST00000511685.1	+	3	537	c.414G>T	c.(412-414)ggG>ggT	p.G138G	TENM3_ENST00000406950.2_Silent_p.G138G			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	138	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGGCAGGGGGGTCAAATCAG	0.537																																																	0													53	59	57					4																	183267985		2021	4186	6207	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.414G>T	4.37:g.183267985G>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G138	ENST00000511685.1	37	c.414	CCDS47165.1	4																																																																																			TENM3	-	pfam_Ten_N	ENSG00000218336		0.537	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	43	0	G			183267985	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	silent	17.02	38	8	SNP	1.000	T	T	183267985	G	T	183267985	2	4	6	1	0	0	0	0	0	0	0	1	10875	1219	43	3		3	ODZ3	4	183267985	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	6645225	183267985	7886291	109	1582											
ODZ3	55714	genome.wustl.edu	37	chr4	183594180	183594180	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattaggtggatttacgcaAgaaaataacaccatagattc	18	10	7	6	1	0	2	0	0	0	2	1	3	0	3	1	2	2	1	1	2	8	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:183594180A>C	ENST00000511685.1	+	7	1257	c.1134A>C	c.(1132-1134)caA>caC	p.Q378H	TENM3_ENST00000406950.2_Missense_Mutation_p.Q378H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	378					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GATTTACGCAAGAAAATAACA	0.348																																																	0													28	26	27					4																	183594180		1803	4082	5885	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1134A>C	4.37:g.183594180A>C	ENSP00000424226:p.Gln378His		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q378H	ENST00000511685.1	37	c.1134	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695329	0.30052	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.27557	1.66;1.66	5.57	-1.03	0.10102	.	.	.	.	.	T	0.23492	0.0568	L	0.53249	1.67	0.33876	D	0.635553	P	0.50943	0.94	P	0.44860	0.462	T	0.41734	-0.9492	9	0.23891	T	0.37	.	2.1316	0.03751	0.5059:0.1198:0.2587:0.1156	.	378	Q9P273	TEN3_HUMAN	H	378	ENSP00000424226:Q378H;ENSP00000385276:Q378H	ENSP00000385276:Q378H	Q	+	3	2	ODZ3	183831174	0.065000	0.20965	0.998000	0.56505	0.995000	0.86356	0.614000	0.24314	-0.077000	0.12752	0.529000	0.55759	CAA	TENM3	-	NULL	ENSG00000218336		0.348	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	39	0	A			183594180	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.997	C	C	183594180	A	C	183594180	3	2	6	1	0	0	0	0	1	0	0	0	10875	69	3	4	1156	4	ODZ3	4	183594180	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	326195	183594180	7560096	110	1583											
F11	2160	genome.wustl.edu	37	chr4	187206815	187206815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcacctaagattttgcGtgtctacagtggcattttaa	11	14	9	7	1	2	2	1	0	1	2	2	2	2	2	1	1	2	1	1	1	3	6	rs373212439		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:187206815G>A	ENST00000403665.2	+	12	1680	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	F11_ENST00000264692.4_Missense_Mutation_p.R391H|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AAGATTTTGCGTGTCTACAGT	0.358													G|||	1	0.000199681	0	0	5008	,	,		17406	0		0	False		,,,				2504	0.001																0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123	124	123		1328	3.1	1	4		123	0,8600		0,0,4300	no	missense	F11	NM_000128.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	443/626	187206815	1,13005	2203	4300	6503	SO:0001583	missense	0			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1328G>A	4.37:g.187206815G>A	ENSP00000384957:p.Arg443His		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.R443H	ENST00000403665.2	37	c.1328	CCDS3847.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.261978|2.261978	0.39995|0.39995	2.27E-4|2.27E-4	0.0|0.0	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000264691	D;D|.	0.89270|.	-2.49;-2.49|.	4.86|4.86	3.11|3.11	0.35812|0.35812	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.278238|.	0.31673|.	N|.	0.007243|.	T|T	0.40448|0.40448	0.1117|0.1117	N|N	0.26130|0.26130	0.795|0.795	0.35915|0.35915	D|D	0.831388|0.831388	P|.	0.47841|.	0.901|.	B|.	0.34242|.	0.178|.	T|T	0.42749|0.42749	-0.9433|-0.9433	10|5	0.56958|.	D|.	0.05|.	.|.	6.4647|6.4647	0.21975|0.21975	0.1541:0.0:0.7015:0.1444|0.1541:0.0:0.7015:0.1444	.|.	443|.	P03951|.	FA11_HUMAN|.	H|M	443;391|9	ENSP00000384957:R443H;ENSP00000264692:R391H|.	ENSP00000264692:R391H|.	R|V	+|+	2|1	0|0	F11|F11	187443809|187443809	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.883000|0.883000	0.51084|0.51084	0.876000|0.876000	0.28092|0.28092	1.261000|1.261000	0.44149|0.44149	0.650000|0.650000	0.86243|0.86243	CGT|GTG	F11	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000088926		0.358	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	HGNC	protein_coding	OTTHUMT00000317519.4	-	0	63	0	G			187206815	1	tier1	-	no_errors	ENST00000403665	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	A	A	187206815	G	A	187206815	3	1	6	1	0	0	0	0	1	0	0	0	5353	1145	40	1	1370	1	F11	4	187206815	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3612635	187206815	3947461	111	1584											
TRIML2	205860	genome.wustl.edu	37	chr4	189018310	189018310	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctcaagcagcagtgacTtgctcctgaagagaaaggac	13	7	12	9	0	1	3	1	2	0	1	2	6	2	4	1	1	4	4	1	1	3	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr4:189018310T>G	ENST00000512729.1	-	6	874	c.500A>C	c.(499-501)aAg>aCg	p.K167T	TRIML2_ENST00000326754.3_Missense_Mutation_p.K192T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	167					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAGCAGTGACTTGCTCCTGAA	0.498																																																	0													119	115	117					4																	189018310		2203	4300	6503	SO:0001583	missense	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.500A>C	4.37:g.189018310T>G	ENSP00000422581:p.Lys167Thr		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.K167T	ENST00000512729.1	37	c.500	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	T	6.155	0.396834	0.11638	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.59638	3.56;0.25	4.51	3.28	0.37604	.	0.532223	0.16040	N	0.232475	T	0.34629	0.0904	N	0.14661	0.345	0.26805	N	0.969112	B;B	0.29716	0.255;0.039	B;B	0.23852	0.049;0.034	T	0.17349	-1.0372	10	0.44086	T	0.13	.	6.1431	0.20271	0.0:0.1269:0.0:0.8731	.	192;167	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	T	167;192	ENSP00000422581:K167T;ENSP00000317498:K192T	ENSP00000317498:K192T	K	-	2	0	TRIML2	189255304	0.022000	0.18835	0.326000	0.25389	0.004000	0.04260	1.626000	0.37039	0.998000	0.38996	0.519000	0.50382	AAG	TRIML2	-	NULL	ENSG00000179046		0.498	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0	30	0	T	NM_173553		189018310	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.425	G	G	189018310	T	G	189018310	3	3	6	1	0	0	0	0	1	0	0	0	16599	1609	56	4	671	4	TRIML2	4	189018310	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1811495	189018310	2135966	112	1585											
BRD9	65980	genome.wustl.edu	37	chr5	889728	889728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcggaggaagtgttcCaggagttgctgaataggtgt	9	10	17	5	1	0	1	0	1	0	0	1	4	1	4	1	5	2	4	1	5	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:889728C>T	ENST00000467963.1	-	4	601	c.435G>A	c.(433-435)ctG>ctA	p.L145L	BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000435709.2_Silent_p.L29L|BRD9_ENST00000388890.4_Silent_p.L29L|BRD9_ENST00000323510.4_Silent_p.L29L|BRD9_ENST00000483173.1_Nonsense_Mutation_p.W94*	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	145					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GGAAGTGTTCCAGGAGTTGCT	0.468																																																	0													105	102	103					5																	889728		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.435G>A	5.37:g.889728C>T			A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Nonsense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.W94*	ENST00000467963.1	37	c.281	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155182	0.57259	.	.	ENSG00000028310	ENST00000483173	.	.	.	5.47	-4.79	0.03200	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8378	0.08902	0.0886:0.4665:0.1766:0.2683	.	.	.	.	X	94	.	ENSP00000419845:W94X	W	-	2	0	BRD9	942728	0.774000	0.28592	0.038000	0.18304	0.135000	0.20990	-0.206000	0.09398	-0.741000	0.04797	0.563000	0.77884	TGG	BRD9	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000028310		0.468	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	-	0	25	0	C	NM_023924		889728	-1	tier1	-	no_errors	ENST00000483173	ensembl	human	novel	74_37	nonsense	10.00	36	4	SNP	0.691	T	T	889728	C	T	889728	2	4	6	1	0	0	0	0	0	0	0	1	1511	595	21	3		3	BRD9	5	889728	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09		889728	180025532	113	1586											
SLC6A3	6531	genome.wustl.edu	37	chr5	1432626	1432626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagtgtcgttgaggccCgagctgtctccactggagtc	8	9	12	12	2	1	1	0	1	1	0	4	3	1	2	3	2	1	2	3	2	2	1	rs376554288		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:1432626C>T	ENST00000270349.9	-	4	733	c.606G>A	c.(604-606)tcG>tcA	p.S202S	SLC6A3_ENST00000453492.2_Silent_p.S202S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	202					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGTTGAGGCCCGAGCTGTCTC	0.617																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	103	91	95		606	-7.9	0	5		95	0,8600		0,0,4300	no	coding-synonymous	SLC6A3	NM_001044.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		202/621	1432626	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.606G>A	5.37:g.1432626C>T			A2RUN4|Q14996	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.S202	ENST00000270349.9	37	c.606	CCDS3863.1	5																																																																																			SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0	49	0	C	NM_001044		1432626	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	silent	26.83	30	11	SNP	0.000	T	T	1432626	C	T	1432626	2	4	6	1	0	0	0	0	0	0	0	1	14730	639	23	1		1	SLC6A3	5	1432626	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	542898	1432626	179482634	114	1587											
IRX4	50805	genome.wustl.edu	37	chr5	1880924	1880924	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccatgcgcagatcccgAaccatccttggaatcaaagc	11	6	8	16	2	1	1	1	0	0	1	3	3	3	2	5	1	3	1	5	1	3	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:1880924A>C	ENST00000505790.1	-	4	778	c.322T>G	c.(322-324)Tcg>Gcg	p.S108A	IRX4_ENST00000513692.1_Missense_Mutation_p.S108A|IRX4_ENST00000231357.2_Missense_Mutation_p.S108A|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	108					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCAGATCCCGAACCATCCTTG	0.637																																																	0													70	77	75					5																	1880924		2203	4300	6503	SO:0001583	missense	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.322T>G	5.37:g.1880924A>C	ENSP00000423161:p.Ser108Ala		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.S108A	ENST00000505790.1	37	c.322	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	A	0.208	-1.039352	0.02013	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692;ENST00000511126	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.02	4.03	-8.07	0.01098	.	0.428141	0.20794	U	0.085571	T	0.22859	0.0552	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.40664	-0.9551	10	0.09590	T	0.72	-0.9	0.3503	0.00348	0.3284:0.1435:0.2617:0.2664	.	108	P78413	IRX4_HUMAN	A	108	ENSP00000231357:S108A;ENSP00000423161:S108A;ENSP00000424235:S108A;ENSP00000421772:S108A	ENSP00000231357:S108A	S	-	1	0	IRX4	1933924	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.495000	0.06443	-1.605000	0.01593	-2.030000	0.00424	TCG	IRX4	-	NULL	ENSG00000113430		0.637	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	-	0	91	0	A	NM_016358		1880924	-1	tier1	-	no_errors	ENST00000231357	ensembl	human	known	74_37	missense	25.20	92	31	SNP	0.001	C	C	1880924	A	C	1880924	3	2	6	1	0	0	0	0	1	0	0	0	7873	246	9	4	1249	4	IRX4	5	1880924	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	448298	1880924	179034336	115	1588											
CDH12	1010	genome.wustl.edu	37	chr5	21783471	21783471	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgccatacttactaacTttactcgcaattatggagaa	13	13	5	10	1	0	1	0	0	0	1	2	2	1	1	2	1	5	1	2	1	7	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:21783471T>G	ENST00000382254.1	-	11	2475	c.1389A>C	c.(1387-1389)aaA>aaC	p.K463N	CDH12_ENST00000522262.1_Missense_Mutation_p.K423N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.K463N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	463	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTTACTAACTTTACTCGCAA	0.368										HNSCC(59;0.17)																																							0													147	144	145					5																	21783471		2203	4300	6503	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1389A>C	5.37:g.21783471T>G	ENSP00000371689:p.Lys463Asn		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K463N	ENST00000382254.1	37	c.1389	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739737	0.69304	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.59364	0.27;0.27;0.27	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.043371	0.85682	D	0.000000	T	0.53206	0.1782	N	0.02158	-0.66	0.80722	D	1	P;D	0.89917	0.888;1.0	P;D	0.87578	0.602;0.998	T	0.71076	-0.4697	10	0.87932	D	0	.	15.6752	0.77311	0.0:0.0:0.0:1.0	.	423;463	B7Z2U6;P55289	.;CAD12_HUMAN	N	463;463;423	ENSP00000423577:K463N;ENSP00000371689:K463N;ENSP00000428786:K423N	ENSP00000371689:K463N	K	-	3	2	CDH12	21819228	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.857000	0.69525	2.099000	0.63709	0.533000	0.62120	AAA	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.368	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	34	0	T	NM_004061		21783471	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	G	G	21783471	T	G	21783471	3	3	6	1	0	0	0	0	1	0	0	0	3105	1606	56	4	1015	4	CDH12	5	21783471	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	19902547	21783471	159131789	116	1589											
UGT3A2	167127	genome.wustl.edu	37	chr5	36038104	36038104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgggtgacaaacagacGgatgcttgggtgagctgttg	8	9	17	7	2	0	3	0	2	0	1	0	4	0	4	1	3	3	3	1	3	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:36038104G>T	ENST00000282507.3	-	6	1191	c.1090C>A	c.(1090-1092)Cgt>Agt	p.R364S	UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000545528.1_Missense_Mutation_p.R62S|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R330S	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	364					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAAACAGACGGATGCTTGGG	0.498																																																	0													63	66	65					5																	36038104		2203	4300	6503	SO:0001583	missense	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1090C>A	5.37:g.36038104G>T	ENSP00000282507:p.Arg364Ser		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R364S	ENST00000282507.3	37	c.1090	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	9.918	1.211456	0.22289	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.61510	0.1;0.1;3.3	3.32	1.49	0.22878	.	0.088372	0.42682	U	0.000677	T	0.74951	0.3784	M	0.92507	3.315	0.09310	N	1	D;D	0.61080	0.989;0.988	P;P	0.62014	0.897;0.831	T	0.65717	-0.6100	10	0.72032	D	0.01	.	7.7016	0.28625	0.0989:0.1667:0.7345:0.0	.	330;364	E9PFK7;Q3SY77	.;UD3A2_HUMAN	S	364;330;62	ENSP00000282507:R364S;ENSP00000427404:R330S;ENSP00000445367:R62S	ENSP00000282507:R364S	R	-	1	0	UGT3A2	36073861	0.000000	0.05858	0.053000	0.19242	0.122000	0.20287	0.264000	0.18497	0.399000	0.25367	-0.251000	0.11542	CGT	UGT3A2	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000168671		0.498	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	-	0	33	0	G	NM_174914		36038104	-1	tier1	-	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.005	T	T	36038104	G	T	36038104	3	4	6	1	0	0	0	0	1	0	0	0	17013	1116	39	2	489	2	UGT3A2	5	36038104	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	14254633	36038104	144877156	117	1590											
HEATR7B2	133558	genome.wustl.edu	37	chr5	40999877	40999877	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaatttcctggtttttcTtggcctagaagagatgtgaa	11	14	10	6	0	1	4	0	1	1	3	2	5	2	4	2	2	0	1	2	2	4	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:40999877T>G	ENST00000399564.4	-	40	4937	c.4487A>C	c.(4486-4488)aAg>aCg	p.K1496T	MROH2B_ENST00000506092.2_Missense_Mutation_p.K1051T	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1496																	CTGGTTTTTCTTGGCCTAGAA	0.473																																																	0													172	173	173					5																	40999877		1875	4112	5987	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.4487A>C	5.37:g.40999877T>G	ENSP00000382476:p.Lys1496Thr		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K1496T	ENST00000399564.4	37	c.4487	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	17.80	3.477794	0.63849	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.66099	-0.19;-0.19	4.95	2.54	0.30619	Armadillo-like helical (1);Armadillo-type fold (1);	0.120229	0.37715	N	0.001978	T	0.62282	0.2415	L	0.51422	1.61	0.34651	D	0.721696	D	0.60575	0.988	P	0.58721	0.844	T	0.64605	-0.6368	10	0.15499	T	0.54	.	6.5398	0.22375	0.0:0.1912:0.0:0.8088	.	1496	Q7Z745	HTRB2_HUMAN	T	1051;1201;1496	ENSP00000441504:K1051T;ENSP00000382476:K1496T	ENSP00000296803:K1201T	K	-	2	0	HEATR7B2	41035634	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.495000	0.35627	0.366000	0.24427	0.533000	0.62120	AAG	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	47	0	T	NM_173489		40999877	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	G	G	40999877	T	G	40999877	3	3	6	1	0	0	0	0	1	0	0	0	7062	1609	56	4	282	4	HEATR7B2	5	40999877	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	4961773	40999877	139915383	118	1591											
BDP1	55814	genome.wustl.edu	37	chr5	70805440	70805440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagaagattcttgtctctGgggaaatggcggcagcattg	10	11	14	6	1	2	2	0	0	2	2	3	4	2	3	0	4	1	2	0	4	3	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:70805440G>T	ENST00000358731.4	+	17	2784	c.2521G>T	c.(2521-2523)Ggg>Tgg	p.G841W	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	841	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCTTGTCTCTGGGGAAATGGC	0.418																																																	0													94	89	91					5																	70805440		1842	4103	5945	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2521G>T	5.37:g.70805440G>T	ENSP00000351575:p.Gly841Trp		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.G841W	ENST00000358731.4	37	c.2521	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697931	0.48307	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.17370	2.28	4.92	3.1	0.35709	.	0.400428	0.21392	N	0.075291	T	0.31327	0.0793	L	0.53249	1.67	0.22127	N	0.99934	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.76575	0.958;0.969;0.988	T	0.04579	-1.0941	10	0.66056	D	0.02	.	6.5859	0.22620	0.0967:0.1811:0.7222:0.0	.	841;841;841	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	W	841;421	ENSP00000351575:G841W	ENSP00000351575:G841W	G	+	1	0	BDP1	70841196	0.142000	0.22610	0.009000	0.14445	0.127000	0.20565	1.291000	0.33330	0.639000	0.30564	0.467000	0.42956	GGG	BDP1	-	NULL	ENSG00000145734		0.418	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2		0	35	0	G	NM_018429		70805440	1			no_errors	ENST00000358731	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.074	T	T	70805440	G	T	70805440	3	4	6	1	0	0	0	0	1	0	0	0	1396	1348	47	3	2587	3	BDP1	5	70805440	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	29805563	70805440	110109820	119	1592											
FAM169A	26049	genome.wustl.edu	37	chr5	74135905	74135905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaaagagacctgtcaGtgaatcttcaggtgcaaaga	17	7	10	7	0	3	3	2	1	1	2	3	4	3	3	1	1	2	2	1	1	5	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:74135905G>A	ENST00000389156.4	-	3	316	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	FAM169A_ENST00000510496.1_Silent_p.L76L|FAM169A_ENST00000380515.3_Silent_p.L76L	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	76						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						AGACCTGTCAGTGAATCTTCA	0.333																																																	0													59	56	57					5																	74135905		1797	4063	5860	SO:0001819	synonymous_variant	0				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.226C>T	5.37:g.74135905G>A			A8K1T9|Q6MZT0|Q9H989	Silent	SNP	NULL	p.L76	ENST00000389156.4	37	c.226	CCDS43330.1	5																																																																																			FAM169A	-	NULL	ENSG00000198780		0.333	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM169A	HGNC	protein_coding	OTTHUMT00000371092.2		0	106	0	G			74135905	-1			no_errors	ENST00000389156	ensembl	human	known	74_37	silent	5.15	92	5	SNP	1.000	A	A	74135905	G	A	74135905	2	1	6	1	0	0	0	0	0	0	0	1	5506	1020	36	3		3	FAM169A	5	74135905	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3330465	74135905	106779355	120	1593											
HOMER1	9456	genome.wustl.edu	37	chr5	78746879	78746879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccggctatcagcccaCtggccaaacttctgagatgt	8	11	9	13	1	2	1	1	1	1	1	2	2	2	1	3	2	3	1	3	2	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:78746879C>G	ENST00000334082.6	-	3	1670	c.228G>C	c.(226-228)caG>caC	p.Q76H	HOMER1_ENST00000508576.1_Missense_Mutation_p.Q76H|HOMER1_ENST00000282260.6_Missense_Mutation_p.Q76H|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	76	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TATCAGCCCACTGGCCAAACT	0.368																																																	0													111	105	107					5																	78746879		1829	4088	5917	SO:0001583	missense	0			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.228G>C	5.37:g.78746879C>G	ENSP00000334382:p.Gln76His		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.Q76H	ENST00000334082.6	37	c.228	CCDS43335.1	5	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876817	0.51801	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98987	-5.3;-5.3;-5.3	5.78	-0.332	0.12675	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99269	0.9745	M	0.92412	3.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.996	D	0.99889	1.1131	10	0.87932	D	0	-5.3302	11.7066	0.51601	0.0:0.5785:0.0:0.4215	.	76;76;76	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	H	76	ENSP00000334382:Q76H;ENSP00000426651:Q76H;ENSP00000282260:Q76H	ENSP00000282260:Q76H	Q	-	3	2	HOMER1	78782635	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	1.306000	0.33505	-0.287000	0.09064	-0.302000	0.09304	CAG	HOMER1	-	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	ENSG00000152413		0.368	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOMER1	HGNC	protein_coding	OTTHUMT00000258856.1	-	0	71	0	C	NM_004272		78746879	-1	tier1	-	no_errors	ENST00000334082	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G	G	78746879	C	G	78746879	3	3	6	1	0	0	0	0	1	0	0	0	7305	564	20	5	864	5	HOMER1	5	78746879	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4610974	78746879	102168381	121	1594											
GPR150	285601	genome.wustl.edu	37	chr5	94957074	94957074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgccggctccggcgacaGctgcggaagcggctgggctc	5	5	17	14	5	0	0	0	0	0	0	2	3	1	1	2	5	4	4	2	5	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:94957074G>C	ENST00000380007.2	+	1	1293	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	365						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		TCCGGCGACAGCTGCGGAAGC	0.731																																																	0													4	6	5					5																	94957074		1976	4004	5980	SO:0001583	missense	0			BC030197	CCDS4074.1	5q15	2012-08-21			ENSG00000178015	ENSG00000178015		"GPCR / Class A : Orphans"	23628	protein-coding gene	gene with protein product						12679517	Standard	NM_199243		Approved	PGR11	uc003kle.1	Q8NGU9	OTTHUMG00000121170	ENST00000380007.2:c.1095G>C	5.37:g.94957074G>C	ENSP00000369344:p.Gln365His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q365H	ENST00000380007.2	37	c.1095	CCDS4074.1	5	.	.	.	.	.	.	.	.	.	.	G	4.075	0.011768	0.07912	.	.	ENSG00000178015	ENST00000380007	T	0.37235	1.21	4.16	2.33	0.28932	.	0.253950	0.20440	N	0.092292	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.16424	-1.0403	10	0.44086	T	0.13	-14.8275	7.4559	0.27266	0.0996:0.1812:0.7192:0.0	.	365	Q8NGU9	GP150_HUMAN	H	365	ENSP00000369344:Q365H	ENSP00000369344:Q365H	Q	+	3	2	GPR150	94982830	0.099000	0.21834	0.272000	0.24630	0.046000	0.14306	0.754000	0.26390	0.213000	0.20722	-0.244000	0.11960	CAG	GPR150	-	NULL	ENSG00000178015		0.731	GPR150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR150	HGNC	protein_coding	OTTHUMT00000241657.2	-	0	16	0	G			94957074	1	tier1	-	no_errors	ENST00000380007	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.014	C	C	94957074	G	C	94957074	3	2	6	1	0	0	0	0	1	0	0	0	6682	962	34	5	1097	5	GPR150	5	94957074	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	16210195	94957074	85958186	122	1595											
LNPEP	4012	genome.wustl.edu	37	chr5	96315637	96315637	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatatatctagttcttattAtgggttttatggcttctcct	9	20	6	6	0	3	0	0	0	3	0	4	0	3	0	1	2	0	3	1	2	7	9			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:96315637A>T	ENST00000231368.5	+	2	1507	c.815A>T	c.(814-816)tAt>tTt	p.Y272F	LNPEP_ENST00000395770.3_Missense_Mutation_p.Y258F	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	272					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTTCTTATTATGGGTTTTAT	0.398																																																	0													55	53	54					5																	96315637		2203	4300	6503	SO:0001583	missense	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.815A>T	5.37:g.96315637A>T	ENSP00000231368:p.Tyr272Phe		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Y272F	ENST00000231368.5	37	c.815	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	A	8.210	0.800110	0.16397	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.02525	4.26;4.26	5.83	3.32	0.38043	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.237373	0.43579	D	0.000551	T	0.02012	0.0063	N	0.17594	0.5	0.37658	D	0.922652	B	0.06786	0.001	B	0.15052	0.012	T	0.47289	-0.9129	10	0.10902	T	0.67	.	10.759	0.46253	0.7469:0.0:0.0:0.2531	.	272	Q9UIQ6	LCAP_HUMAN	F	272;258	ENSP00000231368:Y272F;ENSP00000379117:Y258F	ENSP00000231368:Y272F	Y	+	2	0	LNPEP	96341393	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	4.070000	0.57548	1.032000	0.39892	-0.266000	0.10368	TAT	LNPEP	-	pfam_Peptidase_M1_N	ENSG00000113441		0.398	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	-	0	36	0	A	NM_005575		96315637	1	tier1	-	no_errors	ENST00000231368	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	96315637	A	T	96315637	3	4	6	1	0	0	0	0	1	0	0	0	8894	449	16	5	821	5	LNPEP	5	96315637	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1358563	96315637	84599623	123	1596											
FBN2	2201	genome.wustl.edu	37	chr5	127671703	127671703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagccctggcggtctggcGtagcctgatatccaggattg	7	10	13	11	2	1	1	0	1	1	0	2	2	2	2	3	4	3	1	3	4	3	4	rs368105987		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:127671703G>A	ENST00000508053.1	-	34	4675	c.3701C>T	c.(3700-3702)aCg>aTg	p.T1234M	FBN2_ENST00000507835.1_Missense_Mutation_p.T84M|FBN2_ENST00000262464.4_Missense_Mutation_p.T1234M|FBN2_ENST00000508989.1_Missense_Mutation_p.T1201M			P35556	FBN2_HUMAN	fibrillin 2	1234	EGF-like 18; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T1234M(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCGGTCTGGCGTAGCCTGATA	0.453													G|||	1	0.000199681	0	0	5008	,	,		20907	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)						G	MET/THR	0,4406		0,0,2203	85	76	79		3701	3.8	0.9	5		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN2	NM_001999.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1234/2913	127671703	1,13005	2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3701C>T	5.37:g.127671703G>A	ENSP00000424571:p.Thr1234Met		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.T1234M	ENST00000508053.1	37	c.3701	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350092	0.61183	0.0	1.16E-4	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.7	3.84	0.44239	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.072319	0.53938	N	0.000054	D	0.93756	0.8004	L	0.42008	1.315	0.51233	D	0.999919	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.94222	0.7468	10	0.87932	D	0	.	13.5342	0.61639	0.0755:0.0:0.9245:0.0	.	1201;1234	D6RJI3;P35556	.;FBN2_HUMAN	M	1234;1234;84;1201	ENSP00000262464:T1234M;ENSP00000424571:T1234M;ENSP00000426839:T84M;ENSP00000425596:T1201M	ENSP00000262464:T1234M	T	-	2	0	FBN2	127699602	1.000000	0.71417	0.871000	0.34182	0.516000	0.34256	6.566000	0.73978	1.361000	0.45981	-0.363000	0.07495	ACG	FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	14	0	G	NM_001999		127671703	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.999	A	A	127671703	G	A	127671703	3	1	6	1	0	0	0	0	1	0	0	0	5725	1145	40	1	5189	1	FBN2	5	127671703	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	31356066	127671703	53243557	124	1597											
ADAMTS19	171019	genome.wustl.edu	37	chr5	128864278	128864278	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtaagtggcaacatgaAgaatttggcaaaaagaatga	17	11	10	3	0	0	4	0	2	0	2	0	4	0	4	0	2	1	3	0	2	7	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:128864278A>C	ENST00000274487.4	+	6	1363	c.1218A>C	c.(1216-1218)gaA>gaC	p.E406D	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	406	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGCAACATGAAGAATTTGGCA	0.363																																																	0													89	93	91					5																	128864278		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1218A>C	5.37:g.128864278A>C	ENSP00000274487:p.Glu406Asp			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E406D	ENST00000274487.4	37	c.1218	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	16.56	3.156688	0.57259	.	.	ENSG00000145808	ENST00000274487	T	0.63913	-0.07	4.02	4.02	0.46733	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.082423	0.48767	D	0.000180	T	0.51058	0.1652	N	0.04018	-0.295	0.44547	D	0.997506	D	0.57571	0.98	P	0.61658	0.892	T	0.49399	-0.8944	9	.	.	.	.	8.7373	0.34537	0.9125:0.0:0.0875:0.0	.	406	Q8TE59	ATS19_HUMAN	D	406	ENSP00000274487:E406D	.	E	+	3	2	ADAMTS19	128892177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.409000	0.34680	2.045000	0.60652	0.529000	0.55759	GAA	ADAMTS19	-	pfam_Peptidase_M12B,pfam_Pept_M10_metallopeptidase,pfscan_Peptidase_M12B	ENSG00000145808		0.363	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	56	0	A	NM_133638		128864278	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	31.51	50	23	SNP	1.000	C	C	128864278	A	C	128864278	3	2	6	1	0	0	0	0	1	0	0	0	264	69	3	4	1240	4	ADAMTS19	5	128864278	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1192575	128864278	52050982	125	1598											
FAM53C	51307	genome.wustl.edu	37	chr5	137680947	137680947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagctcacagaccctacagCcctcctttcttcagcctggc	7	9	6	19	0	3	1	2	0	1	1	4	1	4	1	5	1	4	1	5	1	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:137680947C>T	ENST00000239906.5	+	4	998	c.570C>T	c.(568-570)agC>agT	p.S190S	FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Silent_p.S190S|FAM53C_ENST00000507506.1_3'UTR|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	190										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACCCTACAGCCCTCCTTTCT	0.622																																																	0													169	182	177					5																	137680947		2203	4300	6503	SO:0001819	synonymous_variant	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.570C>T	5.37:g.137680947C>T			B2RDJ5|D3DQB9	Silent	SNP	NULL	p.S190	ENST00000239906.5	37	c.570	CCDS4204.1	5																																																																																			FAM53C	-	NULL	ENSG00000120709		0.622	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	-	0	57	0	C	NM_016605		137680947	1	tier1	-	no_errors	ENST00000239906	ensembl	human	known	74_37	silent	5.13	73	4	SNP	0.937	T	T	137680947	C	T	137680947	2	4	6	1	0	0	0	0	0	0	0	1	5603	738	26	3		3	FAM53C	5	137680947	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	8816669	137680947	43234313	126	1599											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250534	140250534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgcagccggcggcgggcGgctcgcgcatcccgttccgc	4	6	15	16	8	0	0	0	0	0	0	3	0	2	0	3	4	2	4	3	4	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:140250534G>A	ENST00000398640.2	+	1	1846	c.1846G>A	c.(1846-1848)Ggc>Agc	p.G616S	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	616	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCGGGCGGCTCGCGCAT	0.667																																																	0													42	51	48					5																	140250534		2202	4299	6501	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1846G>A	5.37:g.140250534G>A	ENSP00000381636:p.Gly616Ser		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G616S	ENST00000398640.2	37	c.1846	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.517379	0.00975	.	.	ENSG00000249158	ENST00000398640	T	0.52057	0.68	4.78	1.88	0.25563	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23054	0.0557	N	0.11255	0.115	0.09310	N	1	B;B	0.26258	0.145;0.046	B;B	0.20767	0.031;0.025	T	0.23655	-1.0182	9	0.12430	T	0.62	.	7.11	0.25384	0.3967:0.0:0.6033:0.0	.	616;616	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	616	ENSP00000381636:G616S	ENSP00000381636:G616S	G	+	1	0	PCDHA11	140230718	0.047000	0.20315	0.000000	0.03702	0.001000	0.01503	1.160000	0.31761	0.073000	0.16731	-1.189000	0.01698	GGC	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0	119	0	G	NM_018902		140250534	1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	15.82	133	25	SNP	0.000	A	A	140250534	G	A	140250534	3	1	6	1	0	0	0	0	1	0	0	0	11560	1116	39	1	1848	1	PCDHA11	5	140250534	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2569587	140250534	40664726	127	1600											
PCDHB7	56129	genome.wustl.edu	37	chr5	140553230	140553230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccagagatttagataccGgaagtaatggggaaatagcc	15	7	12	7	1	0	2	0	0	0	2	0	5	0	4	3	3	3	1	3	3	6	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:140553230G>A	ENST00000231137.3	+	1	988	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	272	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTAGATACCGGAAGTAATGG	0.468																																																	0													74	78	77					5																	140553230		2203	4300	6503	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.814G>A	5.37:g.140553230G>A	ENSP00000231137:p.Gly272Arg		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G272R	ENST00000231137.3	37	c.814	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959618	0.74016	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.03468	3.92	4.61	3.72	0.42706	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23492	0.0568	M	0.92923	3.36	0.49687	D	0.999815	D	0.89917	1.0	D	0.97110	1.0	T	0.10268	-1.0637	9	0.87932	D	0	.	13.2502	0.60048	0.0838:0.0:0.9162:0.0	.	272	Q9Y5E2	PCDB7_HUMAN	R	272;55	ENSP00000231137:G272R	ENSP00000231137:G272R	G	+	1	0	PCDHB7	140533414	1.000000	0.71417	0.684000	0.30055	0.995000	0.86356	6.677000	0.74503	2.248000	0.74166	0.655000	0.94253	GGA	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113212		0.468	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2		0	36	0	G	NM_018940		140553230	1			no_errors	ENST00000231137	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.997	A	A	140553230	G	A	140553230	3	1	6	1	0	0	0	0	1	0	0	0	11586	1117	39	1	816	1	PCDHB7	5	140553230	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	302696	140553230	40362030	128	1601											
RBM27	54439	genome.wustl.edu	37	chr5	145613276	145613276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccccaaggacatggtcagCctccaccatccgttgtgctt	7	11	8	15	1	1	0	1	0	0	0	4	1	4	1	6	2	2	2	6	2	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:145613276C>T	ENST00000265271.5	+	7	1280	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	RBM27_ENST00000506502.1_Missense_Mutation_p.P372S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	372	Pro-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATGGTCAGCCTCCACCATC	0.532																																																	0													45	45	45					5																	145613276		1568	3582	5150	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1114C>T	5.37:g.145613276C>T	ENSP00000265271:p.Pro372Ser		Q8IYW9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.P372S	ENST00000265271.5	37	c.1114	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164589	0.57476	.	.	ENSG00000091009	ENST00000265271	T	0.64085	-0.08	5.52	5.52	0.82312	.	0.144280	0.48767	D	0.000168	T	0.51975	0.1706	L	0.38175	1.15	0.58432	D	0.999992	P;B	0.37061	0.58;0.437	B;B	0.32090	0.14;0.098	T	0.53865	-0.8378	10	0.41790	T	0.15	-12.9411	16.8041	0.85621	0.0:0.8716:0.1284:0.0	.	372;372	Q9P2N5;B3KY61	RBM27_HUMAN;.	S	372	ENSP00000265271:P372S	ENSP00000265271:P372S	P	+	1	0	RBM27	145593469	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.357000	0.52277	2.748000	0.94277	0.655000	0.94253	CCT	RBM27	-	NULL	ENSG00000091009		0.532	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0	51	0	C	XM_291128		145613276	1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	145613276	C	T	145613276	3	4	6	1	0	0	0	0	1	0	0	0	13172	739	26	3	1140	3	RBM27	5	145613276	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5060046	145613276	35301984	129	1602											
GRIA1	2890	genome.wustl.edu	37	chr5	153026562	153026562	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgtcaacatgctgaccTccttttgtggggccctccac	6	11	10	14	0	1	1	1	1	0	0	3	2	3	2	4	3	2	1	4	3	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:153026562T>G	ENST00000285900.5	+	3	638	c.295T>G	c.(295-297)Tcc>Gcc	p.S99A	GRIA1_ENST00000518783.1_Missense_Mutation_p.S109A|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Missense_Mutation_p.S109A|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Missense_Mutation_p.S99A|GRIA1_ENST00000521843.2_Missense_Mutation_p.S30A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	99					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CATGCTGACCTCCTTTTGTGG	0.488																																																	0													169	153	158					5																	153026562		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.295T>G	5.37:g.153026562T>G	ENSP00000285900:p.Ser99Ala		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S109A	ENST00000285900.5	37	c.325	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801886	0.90538	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.35	5.35	0.76521	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89815	0.6824	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D	0.69078	0.994;0.994;0.994;0.993;0.997	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.995;0.994	D	0.90929	0.4789	10	0.87932	D	0	.	14.5102	0.67780	0.0:0.0:0.0:1.0	.	109;109;109;99;99	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	A	99;99;53;99;30;30;109;109	ENSP00000285900:S99A;ENSP00000339343:S99A;ENSP00000427864:S30A;ENSP00000442108:S30A;ENSP00000428994:S109A;ENSP00000415569:S109A	ENSP00000285900:S99A	S	+	1	0	GRIA1	153006755	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.796000	0.85898	2.027000	0.59764	0.533000	0.62120	TCC	GRIA1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000155511		0.488	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0	70	0	T			153026562	1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	30.86	56	25	SNP	1.000	G	G	153026562	T	G	153026562	3	3	6	1	0	0	0	0	1	0	0	0	6794	1551	54	4	305	4	GRIA1	5	153026562	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	7413286	153026562	27888698	130	1603											
BNIP1	662	genome.wustl.edu	37	chr5	172571581	172571581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagacgtccacgtccggatCtgtaaccaagagattgtcaa	13	8	9	11	3	2	2	1	0	1	2	4	4	4	3	3	1	1	1	3	1	4	2	rs141484846	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:172571581C>G	ENST00000351486.5	+	1	64	c.33C>G	c.(31-33)atC>atG	p.I11M	CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000352523.6_Missense_Mutation_p.I11M|BNIP1_ENST00000393770.4_Missense_Mutation_p.I11M|BNIP1_ENST00000231668.9_Missense_Mutation_p.I11M	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	11					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACGTCCGGATCTGTAACCAAG	0.592											OREG0017054	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	55	55					5																	172571581		2203	4300	6503	SO:0001583	missense	0			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"BCL2/adenovirus E1B 19kD-interacting protein 1"			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.33C>G	5.37:g.172571581C>G	ENSP00000239215:p.Ile11Met	1901	D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Splice_Site	SNP	-	NULL	ENST00000351486.5	37	c.NULL	CCDS4384.1	5	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545872	0.65198	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.07	1.01	0.19927	.	0.053759	0.64402	D	0.000001	T	0.36358	0.0964	M	0.67953	2.075	0.46564	D	0.999101	B;P;B;P	0.43024	0.055;0.798;0.079;0.69	B;B;B;B	0.38264	0.066;0.269;0.03;0.269	T	0.18147	-1.0346	10	0.54805	T	0.06	.	1.3918	0.02252	0.3557:0.3332:0.1158:0.1953	.	11;11;11;11	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	M	11	ENSP00000231668:I11M;ENSP00000239215:I11M;ENSP00000239214:I11M;ENSP00000377365:I11M	ENSP00000231668:I11M	I	+	3	3	BNIP1	172504187	0.981000	0.34729	1.000000	0.80357	0.995000	0.86356	0.067000	0.14510	0.299000	0.22661	-0.182000	0.12963	ATC	CTC-209H22.3	-	-	ENSG00000253172		0.592	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253172	Clone_based_vega_gene	protein_coding	OTTHUMT00000252939.1	-	0	58	0	C	NM_013979		172571581	-1	tier1	-	no_errors	ENST00000521251	ensembl	human	known	74_37	splice_site	9.43	48	5	SNP	0.996	G	G	172571581	C	G	172571581	3	3	6	1	0	0	0	0	1	0	0	0	1478	903	32	5	35	5	BNIP1	5	172571581	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	19545019	172571581	8343679	131	1604											
HRH2	3274	genome.wustl.edu	37	chr5	175110525	175110525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaatatctacaccagcCtggatgtgatgctctgcaca	10	11	8	12	0	3	1	0	1	3	0	3	2	3	2	2	1	5	3	2	1	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:175110525C>T	ENST00000231683.2	+	1	2062	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	HRH2_ENST00000377291.2_Silent_p.L97L	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	97					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CTACACCAGCCTGGATGTGAT	0.567																																																	0													113	92	100					5																	175110525		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.289C>T	5.37:g.175110525C>T			B5BUP7|Q14464|Q7Z5R9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.L97	ENST00000231683.2	37	c.289	CCDS4395.1	5																																																																																			HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000113749		0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1	-	0	23	0	C			175110525	1	tier1	-	no_errors	ENST00000377291	ensembl	human	known	74_37	silent	25.00	15	5	SNP	1.000	T	T	175110525	C	T	175110525	2	4	6	1	0	0	0	0	0	0	0	1	7383	680	24	3		3	HRH2	5	175110525	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2538944	175110525	5804735	132	1605											
TRIM52	84851	genome.wustl.edu	37	chr5	180687428	180687428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaatagtcctgatcttcCtcttcttcttcttcctcctc	5	18	4	14	0	5	1	0	1	5	0	10	1	9	1	4	1	0	1	4	1	2	7	rs200454506|rs3073543|rs33972170	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr5:180687428C>T	ENST00000327767.4	-	1	691	c.387G>A	c.(385-387)gaG>gaA	p.E129E	CTC-338M12.4_ENST00000505151.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA|TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	129	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		CCTGATCTTCCTCTTCTTCTT	0.458																																																	0													187	165	173					5																	180687428		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.387G>A	5.37:g.180687428C>T				Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E129	ENST00000327767.4	37	c.387	CCDS4467.1	5																																																																																			TRIM52	-	smart_Znf_RING	ENSG00000183718		0.458	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3		0	38	0	C	NM_032765		180687428	-1			no_errors	ENST00000327767	ensembl	human	known	74_37	silent	6.76	69	5	SNP	0.097	T	T	180687428	C	T	180687428	2	4	6	1	0	0	0	0	0	0	0	1	16575	680	24	3		3	TRIM52	5	180687428	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5576903	180687428	227832	133	1606											
DCDC2	51473	genome.wustl.edu	37	chr6	24301967	24301967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagccccgctcctcagaGtgattttttctgtgaccatt	8	13	8	12	1	2	3	1	2	1	1	3	4	3	3	4	0	2	1	4	0	1	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:24301967G>T	ENST00000378454.3	-	4	834	c.533C>A	c.(532-534)aCt>aAt	p.T178N		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	178	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GCTCCTCAGAGTGATTTTTTC	0.448																																																	0													175	172	173					6																	24301967		2203	4300	6503	SO:0001583	missense	0			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.533C>A	6.37:g.24301967G>T	ENSP00000367715:p.Thr178Asn		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.T178N	ENST00000378454.3	37	c.533	CCDS4550.1	6	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915652	0.52546	.	.	ENSG00000146038	ENST00000378454	D	0.92805	-3.11	5.87	5.87	0.94306	Doublecortin domain (5);	0.400694	0.30752	N	0.008957	T	0.78136	0.4236	N	0.04090	-0.28	0.80722	D	1	P	0.40302	0.712	B	0.41440	0.357	T	0.80845	-0.1200	10	0.28530	T	0.3	-6.0199	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	178	Q9UHG0	DCDC2_HUMAN	N	178	ENSP00000367715:T178N	ENSP00000367715:T178N	T	-	2	0	DCDC2	24409946	0.992000	0.36948	0.933000	0.37362	0.978000	0.69477	4.255000	0.58804	2.941000	0.99782	0.655000	0.94253	ACT	DCDC2	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000146038		0.448	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2	HGNC	protein_coding	OTTHUMT00000043604.1		0	55	0	G	NM_016356		24301967	-1			no_errors	ENST00000378454	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.866	T	T	24301967	G	T	24301967	3	4	6	1	0	0	0	0	1	0	0	0	4294	1029	36	3	925	3	DCDC2	6	24301967	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		24301967	146813100	134	1607											
HIST1H4B	8366	genome.wustl.edu	37	chr6	26027344	26027344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataaatcaaaccggaaattCgcttaaccccaccacgccta	15	7	4	15	3	1	0	1	0	0	0	2	1	1	1	5	1	2	1	5	1	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:26027344C>T	ENST00000377364.3	-	1	136	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	46					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R46Q(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						ACCGGAAATTCGCTTAACCCC	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											77	69	72					6																	26027344		2203	4300	6503	SO:0001583	missense	0			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.137G>A	6.37:g.26027344C>T	ENSP00000366581:p.Arg46Gln		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R46Q	ENST00000377364.3	37	c.137	CCDS4572.1	6	.	.	.	.	.	.	.	.	.	.	c	22.1	4.241449	0.79912	.	.	ENSG00000124529	ENST00000377364	T	0.75367	-0.93	4.65	4.65	0.58169	.	0.000000	0.56097	U	0.000040	T	0.81721	0.4882	.	.	.	0.44117	D	0.996897	.	.	.	.	.	.	D	0.84239	0.0471	7	0.87932	D	0	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	Q	46	ENSP00000366581:R46Q	ENSP00000366581:R46Q	R	-	2	0	HIST1H4B	26135323	1.000000	0.71417	0.993000	0.49108	0.001000	0.01503	7.309000	0.78937	2.506000	0.84524	0.563000	0.77884	CGA	HIST1H4B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000124529		0.572	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2	-	0	26	0	C	NM_003544		26027344	-1	tier1	-	no_errors	ENST00000377364	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T	T	26027344	C	T	26027344	3	4	6	1	0	0	0	0	1	0	0	0	7193	884	31	1	178	1	HIST1H4B	6	26027344	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1725377	26027344	145087723	135	1608											
OR2H1	26716	genome.wustl.edu	37	chr6	29430376	29430376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctttggtctcttctatgCagtgggcactccttcactta	5	17	8	11	0	4	0	1	0	3	0	6	0	5	0	1	2	1	3	1	2	2	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:29430376C>T	ENST00000377136.1	+	4	1295	c.830C>T	c.(829-831)gCa>gTa	p.A277V	OR2H1_ENST00000442615.1_Missense_Mutation_p.A277V|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.A277V|OR2H1_ENST00000377132.1_Missense_Mutation_p.A277V|OR2H1_ENST00000377133.1_Missense_Mutation_p.A277V			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						CTCTTCTATGCAGTGGGCACT	0.512																																																	0													100	103	102					6																	29430376		1511	2709	4220	SO:0001583	missense	0			AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"GPCR / Class A : Olfactory receptors"	8252	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily H, member 8"	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.830C>T	6.37:g.29430376C>T	ENSP00000366340:p.Ala277Val		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A277V	ENST00000377136.1	37	c.830	CCDS4660.1	6	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767845	0.49680	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00063	8.78;8.78;8.78;8.78;8.78	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.380726	0.19284	N	0.118077	T	0.00109	0.0003	L	0.28694	0.88	0.09310	N	1	D	0.63046	0.992	P	0.58721	0.844	T	0.53599	-0.8416	10	0.66056	D	0.02	.	14.6783	0.68998	0.0:1.0:0.0:0.0	.	277	Q9GZK4	OR2H1_HUMAN	V	277	ENSP00000366340:A277V;ENSP00000366337:A277V;ENSP00000393254:A277V;ENSP00000366336:A277V;ENSP00000380010:A277V	ENSP00000366336:A277V	A	+	2	0	OR2H1	29538355	0.002000	0.14202	0.888000	0.34837	0.374000	0.29953	1.743000	0.38258	1.933000	0.56026	0.603000	0.83216	GCA	OR2H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204688		0.512	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2H1	HGNC	protein_coding	OTTHUMT00000194014.3	-	0	29	0	C			29430376	1	tier1	-	no_errors	ENST00000377132	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.293	T	T	29430376	C	T	29430376	3	4	6	1	0	0	0	0	1	0	0	0	11040	710	25	3	832	3	OR2H1	6	29430376	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3403032	29430376	141684691	136	1609											
DAXX	1616	genome.wustl.edu	37	chr6	33289323	33289323	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagggtggtctgctgtctGcatcttacaaagttcaagga	9	12	11	9	0	5	0	2	0	3	0	5	1	5	1	0	3	3	3	0	3	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:33289323G>A	ENST00000374542.5	-	3	433	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	DAXX_ENST00000414083.2_Nonsense_Mutation_p.Q2*|DAXX_ENST00000266000.6_Nonsense_Mutation_p.Q77*|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	77	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTGCTGTCTGCATCTTACAA	0.547			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	0													52	56	55					6																	33289323		2203	4300	6503	SO:0001587	stop_gained	0			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.229C>T	6.37:g.33289323G>A	ENSP00000363668:p.Gln77*		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Nonsense_Mutation	SNP	pfam_Daxx	p.Q77*	ENST00000374542.5	37	c.229	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302795	0.40795	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083;ENST00000446403;ENST00000453407	.	.	.	5.12	3.33	0.38152	.	0.650754	0.15987	N	0.235029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-1.6159	8.9185	0.35596	0.0833:0.1497:0.767:0.0	.	.	.	.	X	77;77;2;77;77	.	ENSP00000266000:Q77X	Q	-	1	0	DAXX	33397301	0.984000	0.35163	0.494000	0.27515	0.019000	0.09904	2.565000	0.45939	0.733000	0.32492	0.549000	0.68633	CAG	DAXX	-	pfam_Daxx	ENSG00000204209		0.547	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	HGNC	protein_coding	OTTHUMT00000076403.1	-	0	29	0	G			33289323	-1	tier1	-	no_errors	ENST00000266000	ensembl	human	known	74_37	nonsense	13.04	19	3	SNP	0.925	A	A	33289323	G	A	33289323	4	1	6	1	0	0	0	0	0	1	0	0	4252	1328	46	3	2017	3	DAXX	6	33289323	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3858947	33289323	137825744	137	1610											
FOXP4	116113	genome.wustl.edu	37	chr6	41555242	41555242	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctactgtgctcacatctcgGagagacaggtacaggggtcc	9	8	12	12	1	2	1	1	0	1	1	4	3	3	2	2	4	3	2	2	4	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:41555242G>T	ENST00000307972.4	+	6	876	c.864G>T	c.(862-864)cgG>cgT	p.R288R	FOXP4_ENST00000409208.1_Silent_p.R288R|FOXP4_ENST00000373063.3_Silent_p.R287R|FOXP4_ENST00000373057.3_Silent_p.R286R|FOXP4_ENST00000373060.1_Silent_p.R288R			Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					TCACATCTCGGAGAGACAGGT	0.672											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													49	54	52					6																	41555242		2203	4300	6503	SO:0001819	synonymous_variant	0			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.864G>T	6.37:g.41555242G>T		902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R288	ENST00000307972.4	37	c.864	CCDS34447.1	6																																																																																			FOXP4	-	NULL	ENSG00000137166		0.672	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	HGNC	protein_coding	OTTHUMT00000106767.1		0	26	0	G	NM_138457		41555242	1			no_errors	ENST00000307972	ensembl	human	known	74_37	silent	6.94	67	5	SNP	1.000	T	T	41555242	G	T	41555242	2	4	6	1	0	0	0	0	0	0	0	1	6053	1161	41	3		3	FOXP4	6	41555242	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	8265919	41555242	129559825	138	1611											
CUL9	23113	genome.wustl.edu	37	chr6	43168191	43168191	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatggtgctgggccagatCgaagaccacagacgaaccca	13	4	12	12	2	0	4	0	0	0	4	1	6	0	4	3	2	2	1	3	2	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:43168191C>T	ENST00000252050.4	+	15	3486	c.3402C>T	c.(3400-3402)atC>atT	p.I1134I	CUL9_ENST00000354495.3_Silent_p.I1024I|CUL9_ENST00000372647.2_Silent_p.I1134I	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1134					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGGCCAGATCGAAGACCACA	0.522																																																	0													243	216	226					6																	43168191		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3402C>T	6.37:g.43168191C>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.I1134	ENST00000252050.4	37	c.3402	CCDS4890.1	6																																																																																			CUL9	-	superfamily_Galactose-bd-like	ENSG00000112659		0.522	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0	49	0	C	NM_015089		43168191	1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	silent	11.59	145	19	SNP	0.266	T	T	43168191	C	T	43168191	2	4	6	1	0	0	0	0	0	0	0	1	4070	874	31	1		1	CUL9	6	43168191	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1612949	43168191	127946876	139	1612											
DST	667	genome.wustl.edu	37	chr6	56483314	56483314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggttttcaacctcacGcttctgggctatcagctcat	7	14	7	13	1	6	0	5	0	1	0	6	0	6	0	1	2	2	4	1	2	2	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:56483314G>A	ENST00000370765.6	-	23	5625	c.5518C>T	c.(5518-5520)Cgt>Tgt	p.R1840C	DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6567					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.R1840S(4)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACCTCACGCTTCTGGGCT	0.413																																																	4	Substitution - Missense(4)	lung(4)											145	139	141					6																	56483314		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5518C>T	6.37:g.56483314G>A	ENSP00000359801:p.Arg1840Cys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1840C	ENST00000370765.6	37	c.5518	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	2.020	-0.424894	0.04701	.	.	ENSG00000151914	ENST00000370765	T	0.12465	2.68	5.21	-0.487	0.12060	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.18873	N	0.999988	B	0.11235	0.004	B	0.04013	0.001	T	0.38090	-0.9677	7	0.56958	D	0.05	.	8.4578	0.32910	0.2468:0.0:0.6425:0.1107	.	1840	Q03001-3	.	C	1840	ENSP00000359801:R1840C	ENSP00000359801:R1840C	R	-	1	0	DST	56591273	0.000000	0.05858	0.013000	0.15412	0.153000	0.21895	0.229000	0.17833	0.021000	0.15133	-0.961000	0.02630	CGT	DST	-	NULL	ENSG00000151914		0.413	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	-	0	36	0	G	NM_001723		56483314	-1	tier1	-	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.013	A	A	56483314	G	A	56483314	3	1	6	1	0	0	0	0	1	0	0	0	4797	1087	38	1	14885	1	DST	6	56483314	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	13315123	56483314	114631753	140	1613											
PRIM2	5558	genome.wustl.edu	37	chr6	57467108	57467108	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttactcttagaacatccGtcacagctttggaaaggaag	13	10	10	8	1	2	1	1	0	1	1	3	3	3	3	1	3	3	2	1	3	5	3	rs201913517	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:57467108G>A	ENST00000389488.2	+	0	1136				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TAGAACATCCGTCACAGCTTT	0.413													G|||	7	0.00139776	0.0053	0	5008	,	,		37281	0		0	False		,,,				2504	0																0								G	HIS/ARG	14,3938		0,14,1962	113	104	107		1049	4	0.9	6		107	1,8345		0,1,4172	yes	missense	PRIM2	XM_003403439.1	29	0,15,6134	AA,AG,GG		0.012,0.3543,0.122	probably-damaging	350/510	57467108	15,12283	1976	4173	6149	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1133G>A	6.37:g.57467108G>A			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.413	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0	116	0	G	NM_000947		57467108	1	tier1	rs201913517	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	14.60	117	20	SNP	0.999	A	A	57467108	G	A	57467108	1	1	6	0	1	0	0	0	0	0	0	0	12533	1145	40	1		1	PRIM2	6	57467108	3'UTR	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	983794	57467108	113647959	141	1614											
PRIM2	5558	genome.wustl.edu	37	chr6	57512519	57512519	+	3'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctaatcatttcttttgTgagagccaacgtattctaaa	12	15	5	9	1	3	1	1	1	2	1	4	2	4	1	2	0	2	1	2	0	5	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:57512519T>C	ENST00000389488.2	+	0	1434				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ATTTCTTTTGTGAGAGCCAAC	0.363																																																	0													259	224	235					6																	57512519		1935	4158	6093	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1431T>C	6.37:g.57512519T>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.363	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0	82	0	T	NM_000947		57512519	1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	8.33	88	8	SNP	0.086	C	C	57512519	T	C	57512519	1	2	6	0	1	0	0	0	0	0	0	0	12533	1702	59	4		4	PRIM2	6	57512519	3'UTR	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	45411	57512519	113602548	142	1615											
EYS	346007	genome.wustl.edu	37	chr6	65300762	65300762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgtgaagggacaatggaTaaacaagtcttatccaaaca	16	10	9	6	0	1	1	0	1	1	0	2	3	2	3	1	2	2	1	1	2	7	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:65300762T>A	ENST00000370621.3	-	26	5524	c.4998A>T	c.(4996-4998)ttA>ttT	p.L1666F	EYS_ENST00000503581.1_Missense_Mutation_p.L1666F|EYS_ENST00000370616.2_Missense_Mutation_p.L1666F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1666					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGACAATGGATAAACAAGTCT	0.313																																																	0													91	85	87					6																	65300762		692	1589	2281	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4998A>T	6.37:g.65300762T>A	ENSP00000359655:p.Leu1666Phe		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1666F	ENST00000370621.3	37	c.4998		6	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193306	0.38707	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.85339	-1.97;-1.94;-1.94	5.34	2.71	0.32032	.	.	.	.	.	T	0.58991	0.2161	N	0.08118	0	0.09310	N	1	P;P	0.44044	0.825;0.561	P;B	0.46253	0.509;0.178	T	0.55573	-0.8120	9	0.66056	D	0.02	.	4.7461	0.13038	0.2943:0.0809:0.0:0.6248	.	1666;1666	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	F	1666	ENSP00000424243:L1666F;ENSP00000359655:L1666F;ENSP00000359650:L1666F	ENSP00000359650:L1666F	L	-	3	2	EYS	65357483	0.029000	0.19370	0.007000	0.13788	0.963000	0.63663	1.150000	0.31639	0.941000	0.37499	0.482000	0.46254	TTA	EYS	-	NULL	ENSG00000188107		0.313	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	19	0	T	XM_294050		65300762	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.000	A	A	65300762	T	A	65300762	3	1	6	1	0	0	0	0	1	0	0	0	5348	1403	49	5	4353	5	EYS	6	65300762	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	7788243	65300762	105814305	143	1616											
CD109	135228	genome.wustl.edu	37	chr6	74475784	74475784	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggaaatcagaaaatggaAgctgttcagaaaataaatta	20	9	9	3	0	2	2	2	0	0	2	2	4	2	4	0	2	1	2	0	2	9	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:74475784A>T	ENST00000287097.5	+	11	1351	c.1239A>T	c.(1237-1239)gaA>gaT	p.E413D	CD109_ENST00000422508.2_Missense_Mutation_p.E336D|CD109_ENST00000437994.2_Missense_Mutation_p.E413D			Q6YHK3	CD109_HUMAN	CD109 molecule	413					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAATGGAAGCTGTTCAGA	0.393																																																	0													104	101	102					6																	74475784		2203	4300	6503	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1239A>T	6.37:g.74475784A>T	ENSP00000287097:p.Glu413Asp		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E413D	ENST00000287097.5	37	c.1239	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	A	7.610	0.674631	0.14841	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.22539	1.95;2.16;1.96	4.69	-0.721	0.11189	.	1.292470	0.04764	N	0.426772	T	0.04048	0.0113	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.10450	0.004;0.002;0.005;0.002	T	0.35500	-0.9786	10	0.15952	T	0.53	.	2.5238	0.04686	0.5477:0.2283:0.0866:0.1374	.	336;413;413;413	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	D	413;336;413	ENSP00000388062:E413D;ENSP00000404475:E336D;ENSP00000287097:E413D	ENSP00000287097:E413D	E	+	3	2	CD109	74532505	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.648000	0.24828	-0.183000	0.10585	0.379000	0.24179	GAA	CD109	-	NULL	ENSG00000156535		0.393	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0	30	0	A	NM_133493		74475784	1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T	T	74475784	A	T	74475784	3	4	6	1	0	0	0	0	1	0	0	0	2970	69	3	5	1281	5	CD109	6	74475784	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	9175022	74475784	96639283	144	1617											
HTR1E	3354	genome.wustl.edu	37	chr6	87726028	87726028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccgtgtcctcggaagtgGccgactttctgacgtggctc	6	10	12	13	4	1	1	0	1	1	0	4	3	2	2	3	3	0	1	3	3	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:87726028G>A	ENST00000305344.5	+	2	1679	c.976G>A	c.(976-978)Gcc>Acc	p.A326T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	326					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTCGGAAGTGGCCGACTTTCT	0.453																																																	0													152	159	157					6																	87726028		2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.976G>A	6.37:g.87726028G>A	ENSP00000307766:p.Ala326Thr		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.A326T	ENST00000305344.5	37	c.976	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577015	0.28092	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.71698	-0.59;-0.59	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.100891	0.41500	U	0.000879	T	0.39860	0.1094	N	0.16166	0.38	0.35658	D	0.812326	B	0.11235	0.004	B	0.22386	0.039	T	0.26052	-1.0114	10	0.19590	T	0.45	.	17.4189	0.87508	0.0:0.0:1.0:0.0	.	326	P28566	5HT1E_HUMAN	T	326	ENSP00000307766:A326T;ENSP00000358597:A326T	ENSP00000307766:A326T	A	+	1	0	HTR1E	87782747	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	4.381000	0.59587	2.119000	0.64992	0.407000	0.27541	GCC	HTR1E	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168830		0.453	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0	39	0	G	NM_000865		87726028	1	tier1	-	no_errors	ENST00000305344	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	A	A	87726028	G	A	87726028	3	1	6	1	0	0	0	0	1	0	0	0	7466	1203	42	3	978	3	HTR1E	6	87726028	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	13250244	87726028	83389039	145	1618											
DSE	29940	genome.wustl.edu	37	chr6	116758015	116758015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccattgacaggatttttgCcatatcacagcaacagcagc	12	9	9	11	0	1	1	1	1	0	0	1	2	1	2	2	2	5	2	2	2	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:116758015C>T	ENST00000331677.3	+	7	2828	c.2384C>T	c.(2383-2385)gCc>gTc	p.A795V	DSE_ENST00000537543.1_Missense_Mutation_p.A814V|DSE_ENST00000452085.3_Missense_Mutation_p.A795V|DSE_ENST00000359564.2_Missense_Mutation_p.A795V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	795					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGATTTTTGCCATATCACAG	0.468																																																	0													65	68	67					6																	116758015		2203	4300	6503	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2384C>T	6.37:g.116758015C>T	ENSP00000332151:p.Ala795Val		Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.A814V	ENST00000331677.3	37	c.2441	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774184	0.49786	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	6.16	5.3	0.74995	.	0.152203	0.64402	N	0.000014	T	0.53769	0.1817	L	0.40543	1.245	0.53688	D	0.999978	P;P	0.44139	0.827;0.827	P;P	0.49192	0.602;0.602	T	0.62081	-0.6929	10	0.87932	D	0	-17.8037	15.6102	0.76710	0.0:0.9346:0.0:0.0654	.	814;795	B7Z765;Q9UL01	.;DSE_HUMAN	V	795;814;795;795	ENSP00000404049:A795V;ENSP00000441152:A814V;ENSP00000332151:A795V;ENSP00000352567:A795V	ENSP00000332151:A795V	A	+	2	0	DSE	116864708	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	5.717000	0.68446	1.628000	0.50416	-0.145000	0.13849	GCC	DSE	-	NULL	ENSG00000111817		0.468	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	-	0	24	0	C	NM_013352		116758015	1	tier1	-	no_errors	ENST00000537543	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T	T	116758015	C	T	116758015	3	4	6	1	0	0	0	0	1	0	0	0	4788	739	26	3	2402	3	DSE	6	116758015	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	29031987	116758015	54357052	146	1619											
ECT2L	345930	genome.wustl.edu	37	chr6	139134440	139134440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttccacaccagatttagtgCctggacaccttttagcaaca	11	11	6	13	0	0	1	0	0	0	1	1	2	1	2	4	1	3	1	4	1	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:139134440C>T	ENST00000423192.1	+	2	190	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ECT2L_ENST00000541398.1_5'Flank|ECT2L_ENST00000367682.2_Missense_Mutation_p.A10V			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	10							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AGATTTAGTGCCTGGACACCT	0.383			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													77	72	74					6																	139134440		1841	4086	5927	SO:0001583	missense	0				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.29C>T	6.37:g.139134440C>T	ENSP00000387388:p.Ala10Val		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain	p.A10V	ENST00000423192.1	37	c.29	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220750	0.58560	.	.	ENSG00000203734	ENST00000423192;ENST00000401414;ENST00000367682	T;T;T	0.64438	-0.1;0.71;-0.1	6.08	6.08	0.98989	.	.	.	.	.	T	0.53077	0.1774	L	0.48642	1.525	0.80722	D	1	P	0.48294	0.908	P	0.44422	0.449	T	0.59627	-0.7419	9	0.72032	D	0.01	-3.8986	17.5889	0.87989	0.0:1.0:0.0:0.0	.	10	Q008S8	ECT2L_HUMAN	V	10	ENSP00000387388:A10V;ENSP00000385187:A10V;ENSP00000356655:A10V	ENSP00000356655:A10V	A	+	2	0	ECT2L	139176133	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	4.781000	0.62389	2.894000	0.99253	0.591000	0.81541	GCC	ECT2L	-	NULL	ENSG00000203734		0.383	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	-	0	45	0	C	NM_001077706		139134440	1	tier1	-	no_errors	ENST00000367682	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	139134440	C	T	139134440	3	4	6	1	0	0	0	0	1	0	0	0	4916	739	26	3	31	3	ECT2L	6	139134440	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	22376425	139134440	31980627	147	1620											
ESR1	2099	genome.wustl.edu	37	chr6	152265466	152265466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctaagaagaacagcctgGccttgtccctgacggccgac	9	7	11	14	2	1	3	0	1	1	2	2	4	2	3	4	2	2	1	4	2	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:152265466G>T	ENST00000206249.3	+	4	1281	c.919G>T	c.(919-921)Gcc>Tcc	p.A307S	ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.A134S|ESR1_ENST00000338799.5_Missense_Mutation_p.A307S|ESR1_ENST00000443427.1_Missense_Mutation_p.A307S|ESR1_ENST00000440973.1_Missense_Mutation_p.A307S|ESR1_ENST00000456483.2_Intron	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	307	Hinge.|Interaction with AKAP13.|Mediates interaction with DNTTIP2.|Self-association.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GAACAGCCTGGCCTTGTCCCT	0.572																																																	0													117	112	114					6																	152265466		2203	4300	6503	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.919G>T	6.37:g.152265466G>T	ENSP00000206249:p.Ala307Ser		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A307S	ENST00000206249.3	37	c.919	CCDS5234.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.56|11.56	1.675335|1.675335	0.29783|0.29783	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;T|.	0.92249|.	-3.0;-3.0;-3.0;-3.0;1.38|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Nuclear hormone receptor, ligand-binding (1);|.	0.356939|.	0.32190|.	N|.	0.006459|.	T|T	0.70491|0.70491	0.3230|0.3230	M|M	0.72118|0.72118	2.19|2.19	0.35474|0.35474	D|D	0.797552|0.797552	B;B;P;B;B;B|.	0.34815|.	0.307;0.001;0.47;0.024;0.046;0.027|.	B;B;P;B;B;B|.	0.44359|.	0.263;0.009;0.447;0.04;0.234;0.118|.	T|T	0.70597|0.70597	-0.4828|-0.4828	10|5	0.23891|.	T|.	0.37|.	.|.	19.7375|19.7375	0.96212|0.96212	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	211;88;49;306;307;307|.	B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372|.	.;.;.;.;.;ESR1_HUMAN|.	S|C	307;307;88;307;307;235;134|211	ENSP00000405330:A307S;ENSP00000342630:A307S;ENSP00000387500:A307S;ENSP00000206249:A307S;ENSP00000445454:A134S|.	ENSP00000206249:A307S|.	A|W	+|+	1|3	0|0	ESR1|ESR1	152307159|152307159	0.524000|0.524000	0.26282|0.26282	0.898000|0.898000	0.35279|0.35279	0.830000|0.830000	0.47004|0.47004	3.605000|3.605000	0.54088|0.54088	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GCC|TGG	ESR1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000091831		0.572	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1		0	43	0	G			152265466	1			no_errors	ENST00000206249	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.971	T	T	152265466	G	T	152265466	3	4	6	1	0	0	0	0	1	0	0	0	5272	1203	42	3	933	3	ESR1	6	152265466	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	13131026	152265466	18849601	148	1621											
ZDHHC14	79683	genome.wustl.edu	37	chr6	158014064	158014064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtaccgcccgcctcccAgaaccaaagaagtcatcatc	11	5	10	15	2	2	2	2	0	0	2	4	2	3	2	5	2	2	1	5	2	4	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:158014064A>G	ENST00000359775.5	+	3	1340	c.451A>G	c.(451-453)Aga>Gga	p.R151G	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.R151G			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	151					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCCGCCTCCCAGAACCAAAGA	0.552																																																	0													91	89	90					6																	158014064		2203	4296	6499	SO:0001583	missense	0			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.451A>G	6.37:g.158014064A>G	ENSP00000352821:p.Arg151Gly		A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R151G	ENST00000359775.5	37	c.451	CCDS5252.1	6	.	.	.	.	.	.	.	.	.	.	A	19.86	3.905221	0.72868	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.27104	1.69;1.69	5.71	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.89534	3.04	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.86	D;D;P	0.87578	0.998;0.996;0.729	T	0.58691	-0.7592	10	0.87932	D	0	-12.6333	13.6188	0.62126	0.6432:0.3568:0.0:0.0	.	155;151;151	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	G	151;151;155	ENSP00000352821:R151G;ENSP00000410713:R151G	ENSP00000352821:R151G	R	+	1	2	ZDHHC14	157934052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.240000	0.43088	2.687000	0.91594	0.655000	0.94253	AGA	ZDHHC14	-	NULL	ENSG00000175048		0.552	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC14	HGNC	protein_coding	OTTHUMT00000042841.2		0	44	0	A	NM_153746		158014064	1			no_errors	ENST00000359775	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	G	G	158014064	A	G	158014064	3	3	6	1	0	0	0	0	1	0	0	0	17652	180	7	4	461	4	ZDHHC14	6	158014064	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	5748598	158014064	13101003	149	1622											
SNX9	51429	genome.wustl.edu	37	chr6	158348167	158348167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaactggaaagaggaagGccgagagagatgagctggcg	15	3	18	5	2	0	4	0	1	0	3	0	9	0	7	1	5	2	1	1	5	4	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr6:158348167G>T	ENST00000392185.3	+	11	1276	c.1105G>T	c.(1105-1107)Gcc>Tcc	p.A369S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	369					cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAAGAGGAAGGCCGAGAGAGA	0.468																																																	0													106	111	110					6																	158348167		2203	4300	6503	SO:0001583	missense	0			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1105G>T	6.37:g.158348167G>T	ENSP00000376024:p.Ala369Ser		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.A369S	ENST00000392185.3	37	c.1105	CCDS5253.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137567	0.77775	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.54866	0.55	5.46	5.46	0.80206	Sorting nexin protein, WASP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	M	0.84219	2.685	0.80722	D	1	B	0.18013	0.025	B	0.33750	0.169	T	0.60409	-0.7269	10	0.87932	D	0	-27.1435	19.2861	0.94072	0.0:0.0:1.0:0.0	.	369	Q9Y5X1	SNX9_HUMAN	S	369;369;169	ENSP00000376024:A369S	ENSP00000252631:A169S	A	+	1	0	SNX9	158268155	1.000000	0.71417	0.970000	0.41538	0.879000	0.50718	8.859000	0.92264	2.542000	0.85734	0.650000	0.86243	GCC	SNX9	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000130340		0.468	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX9	HGNC	protein_coding	OTTHUMT00000042856.1		0	39	0	G			158348167	1			no_errors	ENST00000392185	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	158348167	G	T	158348167	3	4	6	1	0	0	0	0	1	0	0	0	14954	1203	42	3	1147	3	SNX9	6	158348167	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	334103	158348167	12766900	150	1623											
SDK1	221935	genome.wustl.edu	37	chr7	3681696	3681696	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccccagacctcaagtgacTtggtttagagaagggcacaa	13	8	10	10	0	1	3	1	1	0	2	1	4	1	3	3	2	1	2	3	2	5	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:3681696T>G	ENST00000404826.2	+	4	811	c.672T>G	c.(670-672)acT>acG	p.T224T	SDK1_ENST00000389531.3_Silent_p.T224T|AC011284.3_ENST00000427920.1_RNA	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	224	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAAGTGACTTGGTTTAGAG	0.448																																																	0													104	93	97					7																	3681696		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.672T>G	7.37:g.3681696T>G			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T224	ENST00000404826.2	37	c.672	CCDS34590.1	7																																																																																			SDK1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000146555		0.448	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	30	0	T	NM_152744		3681696	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	17.07	34	7	SNP	0.324	G	G	3681696	T	G	3681696	2	3	6	1	0	0	0	0	0	0	0	1	14013	1596	56	4		4	SDK1	7	3681696	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09		3681696	155456967	151	1624											
TWIST1	7291	genome.wustl.edu	37	chr7	19156473	19156473	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaggacctggtagaggaAgtcgatgtacctggccgcca	9	7	15	10	2	0	1	0	0	0	1	1	5	0	4	4	5	1	2	4	5	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:19156473A>C	ENST00000242261.5	-	1	822	c.472T>G	c.(472-474)Ttc>Gtc	p.F158V	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	158	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						TGGTAGAGGAAGTCGATGTAC	0.617																																																	0			GRCh37	CM013612	TWIST1	M							114	92	99					7																	19156473		2203	4300	6503	SO:0001583	missense	0			U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"Basic helix-loop-helix proteins"	12428	protein-coding gene	gene with protein product	"Saethre-Chotzen syndrome"	601622	"blepharophimosis, epicanthus inversus and ptosis 3", "acrocephalosyndactyly 3", "twist homolog 1 (Drosophila)", "twist basic helix-loop-helix transcription factor 1", "craniosynostosis"	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.472T>G	7.37:g.19156473A>C	ENSP00000242261:p.Phe158Val		A4D128|Q92487|Q99804	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.F158V	ENST00000242261.5	37	c.472	CCDS5367.1	7	.	.	.	.	.	.	.	.	.	.	a	18.23	3.577736	0.65878	.	.	ENSG00000122691	ENST00000242261	D	0.97888	-4.59	4.77	3.59	0.41128	Helix-loop-helix DNA-binding (5);	0.000000	0.50627	D	0.000105	D	0.98058	0.9360	M	0.65677	2.01	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97625	1.0138	10	0.62326	D	0.03	-10.7718	10.3203	0.43762	0.852:0.0:0.0:0.148	.	158	Q15672	TWST1_HUMAN	V	158	ENSP00000242261:F158V	ENSP00000242261:F158V	F	-	1	0	TWIST1	19122998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.180000	0.94867	0.641000	0.30601	0.374000	0.22700	TTC	TWIST1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000122691		0.617	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST1	HGNC	protein_coding	OTTHUMT00000207625.1	-	0	40	0	A	NM_000474		19156473	-1	tier1	-	no_errors	ENST00000242261	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	C	C	19156473	A	C	19156473	3	2	6	1	0	0	0	0	1	0	0	0	16832	72	3	4	140	4	TWIST1	7	19156473	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	15474777	19156473	139982190	152	1625											
RAPGEF5	9771	genome.wustl.edu	37	chr7	22194211	22194211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgctctgttatatacaCgtggcagaaaactgcacaag	13	9	11	8	1	1	1	0	0	1	1	1	2	1	2	0	2	4	4	0	2	6	3	rs201437488		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:22194211C>T	ENST00000401957.2	-	7	986	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.V397M			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	247					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTTATATACACGTGGCAGAAA	0.413													C|||	1	0.000199681	0	0	5008	,	,		19995	0		0	False		,,,				2504	0.001																0								C	MET/VAL	3,3725		0,3,1861	91	86	87		1189	5.7	1	7		87	0,8220		0,0,4110	yes	missense	RAPGEF5	NM_012294.3	21	0,3,5971	TT,TC,CC		0.0,0.0805,0.0251	probably-damaging	397/731	22194211	3,11945	1864	4110	5974	SO:0001583	missense	0			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"M-Ras-regulated GEF"	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.739G>A	7.37:g.22194211C>T	ENSP00000384044:p.Val247Met		A4D140|Q8IXU5	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V397M	ENST00000401957.2	37	c.1189		7	.	.	.	.	.	.	.	.	.	.	C	24.9	4.580297	0.86645	8.05E-4	0.0	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T	0.63417	0.45;-0.04	5.69	5.69	0.88448	Ras guanine nucleotide exchange factor, domain (1);	0.111433	0.64402	D	0.000011	T	0.78984	0.4370	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.73708	0.89;0.981	T	0.78489	-0.2184	10	0.59425	D	0.04	.	20.205	0.98274	0.0:1.0:0.0:0.0	.	247;397	Q92565;A8MQ07	RPGF5_HUMAN;.	M	397;247;247;247;135	ENSP00000343656:V397M;ENSP00000384044:V247M	ENSP00000258735:V247M	V	-	1	0	RAPGEF5	22160736	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.696000	0.68287	2.857000	0.98124	0.650000	0.86243	GTG	RAPGEF5	-	superfamily_Ras_GEF_dom	ENSG00000136237		0.413	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	HGNC	protein_coding	OTTHUMT00000326590.2	-	0	36	0	C	NM_012294		22194211	-1	tier1	rs201437488	no_errors	ENST00000344041	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	22194211	C	T	22194211	3	4	6	1	0	0	0	0	1	0	0	0	13092	536	19	1	1043	1	RAPGEF5	7	22194211	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3037738	22194211	136944452	153	1626											
HOXA4	3201	genome.wustl.edu	37	chr7	27169012	27169012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttccacttcatcctccgGttctgaaaccagatcttgac	8	14	5	14	1	4	3	1	2	3	1	7	3	7	3	4	1	1	1	4	1	1	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:27169012G>T	ENST00000360046.5	-	2	860	c.795C>A	c.(793-795)aaC>aaA	p.N265K	HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Missense_Mutation_p.N265K|HOXA-AS2_ENST00000517550.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron|HOXA-AS2_ENST00000521687.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	265					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						TCATCCTCCGGTTCTGAAACC	0.572																																																	0													232	193	207					7																	27169012		2203	4300	6503	SO:0001583	missense	0				CCDS5405.1	7p15.2	2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576		"Homeoboxes / ANTP class : HOXL subclass"	5105	protein-coding gene	gene with protein product		142953	"homeo box A4"	HOX1D, HOX1		1973146, 1358459	Standard	NM_002141		Approved		uc003sym.4	Q00056	OTTHUMG00000023213	ENST00000360046.5:c.795C>A	7.37:g.27169012G>T	ENSP00000353151:p.Asn265Lys		A4D180|O43366	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.N265K	ENST00000360046.5	37	c.795	CCDS5405.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.044266|4.044266	0.75732|0.75732	.|.	.|.	ENSG00000197576|ENSG00000197576	ENST00000360046;ENST00000428284|ENST00000511914	D;D|.	0.99382|.	-5.8;-5.8|.	5.29|5.29	4.38|4.38	0.52667|0.52667	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);|.	0.000000|.	0.45126|.	D|.	0.000400|.	D|D	0.87067|0.87067	0.6085|0.6085	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.90500|0.90500	0.4473|0.4473	10|5	0.87932|.	D|.	0|.	.|.	13.0058|13.0058	0.58703|0.58703	0.0813:0.0:0.9187:0.0|0.0813:0.0:0.9187:0.0	.|.	265|.	Q00056|.	HXA4_HUMAN|.	K|T	265|85	ENSP00000353151:N265K;ENSP00000408845:N265K|.	ENSP00000353151:N265K|.	N|P	-|-	3|1	2|0	HOXA4|HOXA4	27135537|27135537	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.621000|6.621000	0.74228|0.74228	1.179000|1.179000	0.42884|0.42884	0.555000|0.555000	0.69702|0.69702	AAC|CCG	HOXA4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000197576		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA4	HGNC	protein_coding	OTTHUMT00000059534.4	-	0	63	0	G			27169012	-1	tier1	-	no_errors	ENST00000360046	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	27169012	G	T	27169012	3	4	6	1	0	0	0	0	1	0	0	0	7321	1252	44	3	171	3	HOXA4	7	27169012	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	4974801	27169012	131969651	154	1627											
URGCP	55665	genome.wustl.edu	37	chr7	43917890	43917890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtgttgcgcttcccaCggtagggactcaggatgaag	7	11	15	8	2	1	1	1	1	0	0	2	3	2	3	1	4	1	4	1	4	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:43917890C>T	ENST00000453200.1	-	6	1665	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	URGCP_ENST00000223341.7_Missense_Mutation_p.R348H|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.R382H|URGCP_ENST00000447717.3_Missense_Mutation_p.R348H|URGCP_ENST00000336086.6_Missense_Mutation_p.R348H|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Missense_Mutation_p.R348H			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	391					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGCTTCCCACGGTAGGGACT	0.418																																																	0													128	123	124					7																	43917890		1962	4152	6114	SO:0001583	missense	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"up-regulated gene 4"	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1172G>A	7.37:g.43917890C>T	ENSP00000396918:p.Arg391His		E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.R391H	ENST00000453200.1	37	c.1172	CCDS47578.1	7	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306438	0.60305	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.10192	2.91;2.91;2.9;2.91;2.9;2.91	5.48	5.48	0.80851	.	0.395644	0.27306	N	0.019975	T	0.26085	0.0636	L	0.57536	1.79	0.32449	N	0.545616	D;D	0.71674	0.998;0.998	P;P	0.58873	0.847;0.847	T	0.06716	-1.0811	10	0.42905	T	0.14	-19.9148	16.8266	0.85933	0.0:1.0:0.0:0.0	.	382;391	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	H	348;348;382;348;391;348	ENSP00000223341:R348H;ENSP00000336872:R348H;ENSP00000384955:R382H;ENSP00000392136:R348H;ENSP00000396918:R391H;ENSP00000402803:R348H	ENSP00000223341:R348H	R	-	2	0	URGCP	43884415	0.206000	0.23470	0.992000	0.48379	0.983000	0.72400	0.818000	0.27295	2.571000	0.86741	0.591000	0.81541	CGT	URGCP	-	NULL	ENSG00000106608		0.418	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URGCP	HGNC	protein_coding	OTTHUMT00000338995.1		0	37	0	C	NM_001077664		43917890	-1			no_errors	ENST00000453200	ensembl	human	known	74_37	missense	8.20	55	5	SNP	0.969	T	T	43917890	C	T	43917890	3	4	6	1	0	0	0	0	1	0	0	0	17075	536	19	1	1627	1	URGCP	7	43917890	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	16748878	43917890	115220773	155	1628											
ADCY1	107	genome.wustl.edu	37	chr7	45725592	45725592	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgggcctggagctccaAgcccaacagttccctggtgg	6	8	13	14	0	0	0	0	0	0	0	2	1	2	1	5	4	3	2	5	4	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:45725592A>T	ENST00000297323.7	+	13	2127	c.2105A>T	c.(2104-2106)aAg>aTg	p.K702M		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	702					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGAGCTCCAAGCCCAACAGT	0.652																																																	0													54	43	47					7																	45725592		2203	4300	6503	SO:0001583	missense	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2105A>T	7.37:g.45725592A>T	ENSP00000297323:p.Lys702Met		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K702M	ENST00000297323.7	37	c.2105	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711560	0.30322	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.37752	1.18	3.8	0.181	0.15073	.	0.594103	0.16744	N	0.201323	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.15484	0.013	T	0.17440	-1.0369	10	0.30078	T	0.28	.	6.1343	0.20223	0.6047:0.0:0.3953:0.0	.	702	Q08828	ADCY1_HUMAN	M	702	ENSP00000297323:K702M	ENSP00000297323:K702M	K	+	2	0	ADCY1	45692117	0.998000	0.40836	0.036000	0.18154	0.938000	0.57974	3.023000	0.49666	0.162000	0.19483	0.379000	0.24179	AAG	ADCY1	-	NULL	ENSG00000164742		0.652	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	-	0	28	0	A	NM_021116		45725592	1	tier1	-	no_errors	ENST00000297323	ensembl	human	known	74_37	missense	21.74	17	5	SNP	0.012	T	T	45725592	A	T	45725592	3	4	6	1	0	0	0	0	1	0	0	0	292	72	3	5	2155	5	ADCY1	7	45725592	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1807702	45725592	113413071	156	1629											
VSTM2A	222008	genome.wustl.edu	37	chr7	54617710	54617710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcagaatgcaggccttcGaagcctcgcccatgtggctg	7	7	12	15	3	0	1	0	0	0	1	2	2	0	1	4	2	2	3	4	2	2	1	rs548506452		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:54617710G>A	ENST00000407838.3	+	4	887	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	VSTM2A_ENST00000404951.1_Missense_Mutation_p.E161K|VSTM2A_ENST00000302287.3_Missense_Mutation_p.E161K|VSTM2A_ENST00000402026.2_Missense_Mutation_p.E160K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402613.3_Missense_Mutation_p.E161K	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	161						extracellular region (GO:0005576)		p.E160K(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCAGGCCTTCGAAGCCTCGCC	0.592													G|||	1	0.000199681	8e-04	0	5008	,	,		16996	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)											62	56	58					7																	54617710		2203	4299	6502	SO:0001583	missense	0			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.481G>A	7.37:g.54617710G>A	ENSP00000384967:p.Glu161Lys		A4D2E9|B5MC94	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E160K	ENST00000407838.3	37	c.478	CCDS5512.2	7	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511284	0.64522	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.54071	0.61;0.62;0.6;0.61;0.59	5.06	5.06	0.68205	.	0.049488	0.85682	D	0.000000	T	0.66268	0.2772	L	0.46157	1.445	0.36811	D	0.885866	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.986;0.994;0.981	T	0.70905	-0.4745	10	0.49607	T	0.09	-28.802	16.2779	0.82654	0.0:0.0:1.0:0.0	.	161;161;161	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	K	161;161;161;160;161	ENSP00000303108:E161K;ENSP00000384967:E161K;ENSP00000384701:E161K;ENSP00000385933:E160K;ENSP00000384103:E161K	ENSP00000303108:E161K	E	+	1	0	VSTM2A	54585204	1.000000	0.71417	0.995000	0.50966	0.768000	0.43524	6.097000	0.71452	2.501000	0.84356	0.655000	0.94253	GAA	VSTM2A	-	NULL	ENSG00000170419		0.592	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1		0	47	0	G	NM_182546		54617710	1			no_errors	ENST00000402026	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	54617710	G	A	54617710	3	1	6	1	0	0	0	0	1	0	0	0	17278	1059	37	1	495	1	VSTM2A	7	54617710	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	8892118	54617710	104520953	157	1630											
ABCB4	5244	genome.wustl.edu	37	chr7	87046712	87046712	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaattcctgacacagcaatAattggaacaactgctaatag	17	9	6	9	0	0	1	0	1	0	0	1	2	1	2	1	1	4	2	1	1	7	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:87046712A>C	ENST00000265723.4	-	21	2709	c.2598T>G	c.(2596-2598)atT>atG	p.I866M	ABCB4_ENST00000358400.3_Missense_Mutation_p.I866M|ABCB4_ENST00000359206.3_Missense_Mutation_p.I866M|ABCB4_ENST00000545634.1_Missense_Mutation_p.I866M|ABCB4_ENST00000453593.1_Missense_Mutation_p.I866M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	866	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ACACAGCAATAATTGGAACAA	0.358																																																	0													109	105	107					7																	87046712		2203	4300	6503	SO:0001583	missense	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2598T>G	7.37:g.87046712A>C	ENSP00000265723:p.Ile866Met		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.I866M	ENST00000265723.4	37	c.2598	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318849	0.60524	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.82	-4.95	0.03048	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.215859	0.47093	D	0.000259	D	0.92450	0.7603	M	0.79475	2.455	0.38293	D	0.942778	P;P;P	0.39748	0.511;0.686;0.562	B;P;P	0.57152	0.334;0.602;0.814	D	0.90351	0.4366	10	0.62326	D	0.03	-6.1267	10.8172	0.46583	0.3899:0.0:0.5154:0.0947	.	866;866;866	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	M	866	ENSP00000352135:I866M;ENSP00000351172:I866M;ENSP00000265723:I866M;ENSP00000392983:I866M;ENSP00000437465:I866M	ENSP00000265723:I866M	I	-	3	3	ABCB4	86884648	0.982000	0.34865	0.540000	0.28089	0.694000	0.40290	0.067000	0.14510	-0.654000	0.05394	-0.341000	0.08007	ATT	ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000005471		0.358	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	-	0	30	0	A	NM_000443		87046712	-1	tier1	-	no_errors	ENST00000265723	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.796	C	C	87046712	A	C	87046712	3	2	6	1	0	0	0	0	1	0	0	0	43	358	13	4	1294	4	ABCB4	7	87046712	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	32429002	87046712	72091951	158	1631											
TRRAP	8295	genome.wustl.edu	37	chr7	98591352	98591352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggttcagagaaaattggCatgaagaggtatttggctct	11	13	12	5	0	3	3	1	1	2	2	3	4	3	3	0	4	0	4	0	4	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:98591352C>T	ENST00000359863.4	+	65	10206	c.9997C>T	c.(9997-9999)Cat>Tat	p.H3333Y	TRRAP_ENST00000446306.3_Missense_Mutation_p.H3322Y|TRRAP_ENST00000355540.3_Missense_Mutation_p.H3304Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3333					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAAAATTGGCATGAAGAGGT	0.522																																																	0													202	179	187					7																	98591352		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9997C>T	7.37:g.98591352C>T	ENSP00000352925:p.His3333Tyr		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.H3333Y	ENST00000359863.4	37	c.9997	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173420	0.21704	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.02737	4.19;4.18	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.01124	0.0037	N	0.00399	-1.545	0.80722	D	1	B;B;B	0.16802	0.019;0.003;0.007	B;B;B	0.15870	0.014;0.002;0.004	T	0.51545	-0.8692	10	0.02654	T	1	.	19.5819	0.95471	0.0:1.0:0.0:0.0	.	3304;3061;3333	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	Y	3333;3304;3321	ENSP00000352925:H3333Y;ENSP00000347733:H3304Y	ENSP00000347733:H3304Y	H	+	1	0	TRRAP	98429288	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.736000	0.84948	2.693000	0.91896	0.655000	0.94253	CAT	TRRAP	-	NULL	ENSG00000196367		0.522	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1		0	37	0	C	NM_003496		98591352	1			no_errors	ENST00000359863	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	98591352	C	T	98591352	3	4	6	1	0	0	0	0	1	0	0	0	16649	710	25	3	10160	3	TRRAP	7	98591352	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	11544640	98591352	60547311	159	1632											
TFR2	7036	genome.wustl.edu	37	chr7	100224466	100224466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctcctgccgcagcttttCcgccgcccggatgtagtccc	4	10	10	17	4	1	0	0	0	1	0	4	2	3	1	6	1	2	3	6	1	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:100224466C>T	ENST00000462107.1	-	18	2343	c.2056G>A	c.(2056-2058)Gaa>Aaa	p.E686K	TFR2_ENST00000223051.3_Missense_Mutation_p.E686K|TFR2_ENST00000544242.1_Missense_Mutation_p.E227K|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	686					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CGCAGCTTTTCCGCCGCCCGG	0.706																																																	0													33	24	27					7																	100224466		2015	3938	5953	SO:0001583	missense	0			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2056G>A	7.37:g.100224466C>T	ENSP00000420525:p.Glu686Lys		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E686K	ENST00000462107.1	37	c.2056	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	c	12.03	1.814329	0.32053	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.56776	0.44;0.44;0.44	5.35	5.35	0.76521	Transferrin receptor-like, dimerisation domain (3);	0.252772	0.38959	N	0.001519	T	0.33323	0.0859	N	0.14661	0.345	0.80722	D	1	P	0.39094	0.659	B	0.34873	0.191	T	0.18808	-1.0325	10	0.34782	T	0.22	-25.9806	12.3206	0.54983	0.0:0.8296:0.1704:0.0	.	686	Q9UP52	TFR2_HUMAN	K	686;686;227	ENSP00000223051:E686K;ENSP00000420525:E686K;ENSP00000443656:E227K	ENSP00000223051:E686K	E	-	1	0	TFR2	100062402	0.978000	0.34361	0.690000	0.30148	0.085000	0.17905	1.738000	0.38207	2.522000	0.85027	0.558000	0.71614	GAA	TFR2	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000106327		0.706	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	-	0	54	0	C	NM_003227		100224466	-1	tier1	-	no_errors	ENST00000223051	ensembl	human	known	74_37	missense	51.81	40	43	SNP	0.716	T	T	100224466	C	T	100224466	3	4	6	1	0	0	0	0	1	0	0	0	15858	864	30	3	357	3	TFR2	7	100224466	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1633114	100224466	58914197	160	1633											
CUX1	1523	genome.wustl.edu	37	chr7	101923380	101923380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgtcccagtacgaggagCgcctggaccccttctcctcc	6	8	9	18	3	1	0	0	0	1	0	5	3	3	2	6	2	2	1	6	2	1	2	rs146049827	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:101923380C>T	ENST00000437600.4	+	19	2078	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	CUX1_ENST00000547394.2_Missense_Mutation_p.R562C|CUX1_ENST00000425244.2_Missense_Mutation_p.R532C|CUX1_ENST00000292538.4_Missense_Mutation_p.R578C|CUX1_ENST00000393824.3_Missense_Mutation_p.R539C|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTACGAGGAGCGCCTGGACCC	0.677													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		16439	0		0	False		,,,				2504	0																0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	7,4399	12.9+/-30.5	0,7,2196	88	74	79		1684,1594,1615,1732,1726	2.7	1	7	dbSNP_134	79	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	CUX1	NM_001202544.1,NM_001202545.1,NM_001202546.1,NM_001913.3,NM_181500.2	180,180,180,180,180	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,,,,	562/663,532/633,539/640,578/679,576/677	101923380	7,12999	2203	4300	6503	SO:0001583	missense	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1726C>T	7.37:g.101923380C>T	ENSP00000414091:p.Arg576Cys		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_CASP_C,superfamily_LemA-like_dom	p.R578C	ENST00000437600.4	37	c.1732	CCDS47672.1	7	.	.	.	.	.	.	.	.	.	.	C	19.65	3.866851	0.72065	0.001589	0.0	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	3.56	2.67	0.31697	CASP, C-terminal (1);	.	.	.	.	T	0.57858	0.2082	M	0.77103	2.36	0.35953	D	0.834063	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.991;0.981;0.922;0.953;0.981	T	0.68758	-0.5324	9	0.72032	D	0.01	.	11.2641	0.49099	0.0:0.9088:0.0:0.0912	.	539;532;562;576;578	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	C	578;562;532;576	ENSP00000292538:R578C;ENSP00000449371:R562C;ENSP00000409745:R532C;ENSP00000414091:R576C	ENSP00000292538:R578C	R	+	1	0	CUX1	101710100	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.846000	0.62860	0.851000	0.35264	0.556000	0.70494	CGC	CUX1	-	pfam_CASP_C	ENSG00000257923		0.677	CUX1-003	KNOWN	basic|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347534.3		0	59	0	C	NM_001913		101923380	1			no_errors	ENST00000292538	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	101923380	C	T	101923380	3	4	6	1	0	0	0	0	1	0	0	0	4073	768	27	1	5176	1	CUX1	7	101923380	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1698914	101923380	57215283	161	1634											
C7orf66	154907	genome.wustl.edu	37	chr7	108524266	108524266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcataaaaacacttgAgaaggcatgacatttgtggt	14	9	11	7	0	0	2	0	2	0	1	0	3	0	2	1	3	1	2	1	3	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:108524266A>G	ENST00000379007.2	-	2	200	c.146T>C	c.(145-147)cTc>cCc	p.L49P		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	49						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						AAAACACTTGAGAAGGCATGA	0.428																																																	0													146	127	133					7																	108524266		2203	4300	6503	SO:0001583	missense	0			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.146T>C	7.37:g.108524266A>G	ENSP00000368292:p.Leu49Pro			Missense_Mutation	SNP	NULL	p.L49P	ENST00000379007.2	37	c.146	CCDS34735.1	7	.	.	.	.	.	.	.	.	.	.	A	11.70	1.716203	0.30413	.	.	ENSG00000205174	ENST00000379007	.	.	.	3.87	0.202	0.15190	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.27013	0.166	B	0.34873	0.191	T	0.37865	-0.9687	7	.	.	.	.	5.859	0.18736	0.6209:0.0:0.3791:0.0	.	49	A4D0T2	CG066_HUMAN	P	49	.	.	L	-	2	0	C7orf66	108311502	0.000000	0.05858	0.001000	0.08648	0.505000	0.33919	-0.095000	0.11077	0.026000	0.15269	0.460000	0.39030	CTC	C7orf66	-	NULL	ENSG00000205174		0.428	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf66	HGNC	protein_coding	OTTHUMT00000337420.1	-	0	29	0	A	NM_001024607		108524266	-1	tier1	-	no_errors	ENST00000379007	ensembl	human	putative	74_37	missense	22.86	26	8	SNP	0.001	G	G	108524266	A	G	108524266	3	3	6	1	0	0	0	0	1	0	0	0	2419	304	11	4	205	4	C7orf66	7	108524266	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	6600886	108524266	50614397	162	1635											
CAV1	857	genome.wustl.edu	37	chr7	116199131	116199131	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtctgccctctttggcatCccgatggcactcatctgggg	4	12	11	14	1	4	0	1	0	3	0	5	1	5	0	2	4	1	2	2	4	0	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:116199131C>A	ENST00000341049.2	+	3	605	c.327C>A	c.(325-327)atC>atA	p.I109I	CAV1_ENST00000393470.1_Silent_p.I98I|CAV1_ENST00000393468.1_Silent_p.I78I|CAV1_ENST00000405348.1_Silent_p.I78I|CAV1_ENST00000393467.1_Silent_p.I78I	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	109					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			TCTTTGGCATCCCGATGGCAC	0.493																																																	0													176	129	145					7																	116199131		2203	4300	6503	SO:0001819	synonymous_variant	0			AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"caveolin 1, caveolae protein, 22kD"	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.327C>A	7.37:g.116199131C>A			Q9UGP1|Q9UNG1|Q9UQH6	Silent	SNP	pfam_Caveolin	p.I109	ENST00000341049.2	37	c.327	CCDS5767.1	7																																																																																			CAV1	-	pfam_Caveolin	ENSG00000105974		0.493	CAV1-001	KNOWN	basic|CCDS	protein_coding	CAV1	HGNC	protein_coding	OTTHUMT00000059734.4	-	0	42	0	C	NM_001753		116199131	1	tier1	-	no_errors	ENST00000341049	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.954	A	A	116199131	C	A	116199131	2	1	6	1	0	0	0	0	0	0	0	1	2700	845	30	3		3	CAV1	7	116199131	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	7674865	116199131	42939532	163	1636											
PLXNA4	91584	genome.wustl.edu	37	chr7	131853090	131853090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagcttagggtggttcTtgctctccaggttcttgtca	5	14	12	10	0	4	0	1	0	3	0	5	0	4	0	1	3	3	6	1	3	1	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:131853090T>C	ENST00000359827.3	-	22	5221	c.4259A>G	c.(4258-4260)aAg>aGg	p.K1420R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.K1420R			Q9HCM2	PLXA4_HUMAN	plexin A4	1420					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGGTGGTTCTTGCTCTCCAG	0.602																																																	0													63	66	65					7																	131853090		2203	4300	6503	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4259A>G	7.37:g.131853090T>C	ENSP00000352882:p.Lys1420Arg		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K1420R	ENST00000359827.3	37	c.4259	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	T	19.80	3.893887	0.72639	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16457	2.34;2.34	5.49	5.49	0.81192	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	L	0.48877	1.53	0.80722	D	1	P	0.41848	0.763	P	0.51016	0.656	T	0.00817	-1.1554	10	0.39692	T	0.17	.	15.5722	0.76349	0.0:0.0:0.0:1.0	.	1420	Q9HCM2	PLXA4_HUMAN	R	1420	ENSP00000323194:K1420R;ENSP00000352882:K1420R	ENSP00000323194:K1420R	K	-	2	0	PLXNA4	131503630	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.295000	0.72744	2.087000	0.62958	0.379000	0.24179	AAG	PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	27	0	T	NM_181775		131853090	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	C	C	131853090	T	C	131853090	3	2	6	1	0	0	0	0	1	0	0	0	12161	1609	56	4	1469	4	PLXNA4	7	131853090	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	15653959	131853090	27285573	164	1637											
NUP205	23165	genome.wustl.edu	37	chr7	135300665	135300665	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatgtttaaattctagaAtatgaaatatctatgctgaa	16	16	5	4	0	2	3	0	2	2	1	2	3	2	3	0	0	2	2	0	0	10	8			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:135300665A>T	ENST00000285968.6	+	24	3338	c.3312A>T	c.(3310-3312)gaA>gaT	p.E1104D		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1104					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAATTCTAGAATATGAAATAT	0.353																																																	0													60	60	60					7																	135300665		2203	4299	6502	SO:0001630	splice_region_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3311-1A>T	7.37:g.135300665A>T			A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_Nup186/Nup192/Nup205	p.E1104D	ENST00000285968.6	37	c.3312	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	A	13.50	2.256461	0.39896	.	.	ENSG00000155561	ENST00000285968	T	0.29397	1.57	6.16	-0.433	0.12287	.	0.219434	0.49916	N	0.000126	T	0.16938	0.0407	L	0.31664	0.95	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.08086	-1.0739	10	0.24483	T	0.36	.	6.1825	0.20480	0.4325:0.2383:0.3292:0.0	.	1104	Q92621	NU205_HUMAN	D	1104	ENSP00000285968:E1104D	ENSP00000285968:E1104D	E	+	3	2	NUP205	134951205	0.072000	0.21174	0.997000	0.53966	0.991000	0.79684	-0.564000	0.05936	-0.037000	0.13646	0.528000	0.53228	GAA	NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.353	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1		0	39	0	A		Missense_Mutation	135300665	1			no_errors	ENST00000285968	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.950	T	T	135300665	A	T	135300665	5	4	6	1	0	0	0	0	0	0	1	0	10798	115	4	5	3406	5	NUP205	7	135300665	Splice_Site	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	3447575	135300665	23837998	165	1638											
CHRM2	1129	genome.wustl.edu	37	chr7	136700570	136700570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattccaaagatgagaacTctaagcaaacatgcatcaga	17	7	7	10	0	2	3	1	1	1	3	3	4	3	3	2	0	4	2	2	0	4	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:136700570T>C	ENST00000445907.2	+	3	1486	c.958T>C	c.(958-960)Tct>Cct	p.S320P	hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S320P|CHRM2_ENST00000453373.1_Missense_Mutation_p.S320P|CHRM2_ENST00000320658.5_Missense_Mutation_p.S320P|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S320P|CHRM2_ENST00000401861.1_Missense_Mutation_p.S320P|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	320					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGATGAGAACTCTAAGCAAAC	0.463																																																	0													100	101	101					7																	136700570		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.958T>C	7.37:g.136700570T>C	ENSP00000399745:p.Ser320Pro		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.S320P	ENST00000445907.2	37	c.958	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	T	14.92	2.680879	0.47886	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.67933	0.2946	M	0.84326	2.69	0.58432	D	0.999999	B	0.21452	0.056	B	0.30646	0.118	T	0.65647	-0.6117	10	0.28530	T	0.3	-12.9837	15.427	0.75061	0.0:0.0:0.0:1.0	.	320	P08172	ACM2_HUMAN	P	320	ENSP00000399745:S320P;ENSP00000415386:S320P;ENSP00000319984:S320P;ENSP00000380733:S320P;ENSP00000384937:S320P;ENSP00000384401:S320P	ENSP00000319984:S320P	S	+	1	0	CHRM2	136351110	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.052000	0.57420	2.055000	0.61198	0.533000	0.62120	TCT	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt	ENSG00000181072		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	30	0	T			136700570	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	C	C	136700570	T	C	136700570	3	2	6	1	0	0	0	0	1	0	0	0	3384	1551	54	4	960	4	CHRM2	7	136700570	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1399905	136700570	22438093	166	1639											
NCAPG2	54892	genome.wustl.edu	37	chr7	158485569	158485569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacattccagtagggcttcgTagttctcactttcatttatt	8	17	6	10	1	2	0	2	0	1	0	5	0	3	0	1	1	0	4	1	1	3	9			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr7:158485569T>C	ENST00000409423.1	-	5	519	c.347A>G	c.(346-348)tAc>tGc	p.Y116C	NCAPG2_ENST00000479022.1_5'Flank|NCAPG2_ENST00000275830.10_5'Flank|NCAPG2_ENST00000409339.3_Missense_Mutation_p.Y116C|NCAPG2_ENST00000356309.3_Missense_Mutation_p.Y116C|NCAPG2_ENST00000449727.2_Missense_Mutation_p.Y116C	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	116					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TAGGGCTTCGTAGTTCTCACT	0.294																																																	0													138	136	137					7																	158485569		1812	4073	5885	SO:0001583	missense	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.347A>G	7.37:g.158485569T>C	ENSP00000386569:p.Tyr116Cys		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.Y116C	ENST00000409423.1	37	c.347	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	T	6.450	0.451201	0.12223	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.41	-0.182	0.13287	Armadillo-type fold (1);	0.058363	0.64402	D	0.000001	T	0.25232	0.0613	L	0.45137	1.4	0.39673	D	0.970788	B;B	0.27416	0.178;0.111	B;B	0.31547	0.132;0.062	T	0.04373	-1.0956	10	0.46703	T	0.11	-8.2418	3.7201	0.08453	0.3966:0.1472:0.0:0.4561	.	116;116	Q86XI2-2;Q86XI2	.;CNDG2_HUMAN	C	116	ENSP00000348657:Y116C;ENSP00000386569:Y116C;ENSP00000387007:Y116C;ENSP00000388326:Y116C	ENSP00000348657:Y116C	Y	-	2	0	NCAPG2	158178330	0.962000	0.33011	0.153000	0.22517	0.116000	0.19942	1.504000	0.35726	-0.182000	0.10602	0.397000	0.26171	TAC	NCAPG2	-	superfamily_ARM-type_fold	ENSG00000146918		0.294	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	-	0	77	0	T	NM_017760		158485569	-1	tier1	-	no_errors	ENST00000409339	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.354	C	C	158485569	T	C	158485569	3	2	6	1	0	0	0	0	1	0	0	0	10247	1638	57	4	3184	4	NCAPG2	7	158485569	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	21784999	158485569	653094	167	1640											
HR	55806	genome.wustl.edu	37	chr8	21983168	21983168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcacaactttggcattgagCcagttttgcagggagagcca	10	9	13	9	0	0	2	0	1	0	1	0	3	0	2	2	3	4	4	2	3	1	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:21983168C>T	ENST00000381418.4	-	4	2963	c.1483G>A	c.(1483-1485)Gct>Act	p.A495T	HR_ENST00000312841.8_Missense_Mutation_p.A495T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	495					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGGCATTGAGCCAGTTTTGCA	0.617																																																	0													64	55	58					8																	21983168		2203	4300	6503	SO:0001583	missense	0			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1483G>A	8.37:g.21983168C>T	ENSP00000370826:p.Ala495Thr		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.A495T	ENST00000381418.4	37	c.1483	CCDS6022.1	8	.	.	.	.	.	.	.	.	.	.	C	4.421	0.077893	0.08485	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71103	-0.54;-0.53	5.3	-10.6	0.00265	.	1.020170	0.07810	N	0.958046	T	0.32315	0.0825	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.29058	-1.0024	10	0.02654	T	1	1.1328	2.0275	0.03522	0.1658:0.1171:0.252:0.4651	.	495;495	O43593-2;O43593	.;HAIR_HUMAN	T	495	ENSP00000370826:A495T;ENSP00000326765:A495T	ENSP00000326765:A495T	A	-	1	0	HR	22039113	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-2.284000	0.01154	-2.080000	0.00870	0.491000	0.48974	GCT	HR	-	NULL	ENSG00000168453		0.617	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	HGNC	protein_coding	OTTHUMT00000214213.1	-	0	38	0	C			21983168	-1	tier1	-	no_errors	ENST00000381418	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.000	T	T	21983168	C	T	21983168	3	4	6	1	0	0	0	0	1	0	0	0	7374	739	26	3	2150	3	HR	8	21983168	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09		21983168	124380854	168	1641											
GNRH1	2796	genome.wustl.edu	37	chr8	25276973	25276973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttcctcttcaatcagacTttcctgaaaaatatataaca	15	14	3	9	0	3	2	2	1	1	1	5	2	5	2	2	0	1	1	2	0	6	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:25276973T>C	ENST00000276414.4	-	3	1564	c.241A>G	c.(241-243)Agt>Ggt	p.S81G	GNRH1_ENST00000421054.2_Missense_Mutation_p.S81G	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	81					cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179)			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		TCAATCAGACTTTCCTGAAAA	0.313																																																	0													97	92	93					8																	25276973		1803	4069	5872	SO:0001583	missense	0			X01059	CCDS43725.1	8p21-p11.2	2013-02-26	2004-10-13		ENSG00000147437	ENSG00000147437		"Endogenous ligands"	4419	protein-coding gene	gene with protein product		152760	"gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)"	GRH, GNRH, LHRH		6090951	Standard	NM_000825		Approved		uc003xem.4	P01148	OTTHUMG00000163852	ENST00000276414.4:c.241A>G	8.37:g.25276973T>C	ENSP00000276414:p.Ser81Gly		A0AVP0	Missense_Mutation	SNP	pfam_GnRH,prints_Gonadoliberin_I_precursor	p.S81G	ENST00000276414.4	37	c.241	CCDS43725.1	8	.	.	.	.	.	.	.	.	.	.	T	15.73	2.920097	0.52653	.	.	ENSG00000147437	ENST00000421054;ENST00000276414	T;T	0.52295	0.67;0.67	5.22	4.04	0.47022	.	0.066430	0.64402	D	0.000008	T	0.36771	0.0979	.	.	.	0.50813	D	0.999895	P	0.39282	0.666	B	0.35039	0.194	T	0.15093	-1.0449	9	0.45353	T	0.12	-7.2519	10.3677	0.44035	0.0:0.0:0.1641:0.8359	.	81	P01148	GON1_HUMAN	G	81	ENSP00000391280:S81G;ENSP00000276414:S81G	ENSP00000276414:S81G	S	-	1	0	GNRH1	25332890	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.072000	0.30678	0.903000	0.36546	0.377000	0.23210	AGT	GNRH1	-	prints_Gonadoliberin_I_precursor	ENSG00000147437		0.313	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNRH1	HGNC	protein_coding	OTTHUMT00000375982.1	-	0	41	0	T	NM_001083111		25276973	-1	tier1	-	no_errors	ENST00000276414	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	C	C	25276973	T	C	25276973	3	2	6	1	0	0	0	0	1	0	0	0	6573	1609	56	4	41	4	GNRH1	8	25276973	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3293805	25276973	121087049	169	1642											
KIF13B	23303	genome.wustl.edu	37	chr8	29023209	29023209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccgttttccttaatttCtcctcccaggtcacagtcat	6	16	4	15	1	3	0	2	0	1	0	8	0	7	0	5	1	0	1	5	1	1	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:29023209C>T	ENST00000524189.1	-	12	1277	c.1239G>A	c.(1237-1239)gaG>gaA	p.E413E	KIF13B_ENST00000521515.1_Silent_p.E413E	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	413					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCCTTAATTTCTCCTCCCAGG	0.453																																																	0													157	150	152					8																	29023209		1892	4114	6006	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1239G>A	8.37:g.29023209C>T			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E413	ENST00000524189.1	37	c.1239	CCDS55217.1	8																																																																																			KIF13B	-	NULL	ENSG00000197892		0.453	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	-	0	29	0	C			29023209	-1	tier1	-	no_errors	ENST00000524189	ensembl	human	known	74_37	silent	14.52	53	9	SNP	1.000	T	T	29023209	C	T	29023209	2	4	6	1	0	0	0	0	0	0	0	1	8302	912	32	3		3	KIF13B	8	29023209	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3746236	29023209	117340813	170	1643											
WRN	7486	genome.wustl.edu	37	chr8	30999101	30999101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaatttatgaagatttgCgcccttacgaaaaaggtaaa	18	10	7	6	2	0	2	0	1	0	1	0	3	0	2	1	1	3	1	1	1	9	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:30999101C>T	ENST00000298139.5	+	25	3372	c.3123C>T	c.(3121-3123)tgC>tgT	p.C1041C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1041					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.C1041C(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGAAGATTTGCGCCCTTACGA	0.403			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	1	Substitution - coding silent(1)	endometrium(1)											103	101	102					8																	30999101		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3123C>T	8.37:g.30999101C>T			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.C1041	ENST00000298139.5	37	c.3123	CCDS6082.1	8																																																																																			WRN	-	pfam_RQC_domain,smart_RQC_domain	ENSG00000165392		0.403	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	41	0	C			30999101	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.917	T	T	30999101	C	T	30999101	2	4	6	1	0	0	0	0	0	0	0	1	17451	776	27	1		1	WRN	8	30999101	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1975892	30999101	115364921	171	1644											
NRG1	3084	genome.wustl.edu	37	chr8	32463089	32463089	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatcttataggaagtcagaActtcgcattaacaaagcatc	15	11	7	8	1	2	2	1	1	1	1	4	3	2	3	0	1	3	2	0	1	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:32463089A>C	ENST00000405005.3	+	3	288	c.288A>C	c.(286-288)gaA>gaC	p.E96D	NRG1_ENST00000356819.4_Missense_Mutation_p.E96D|NRG1_ENST00000520407.1_Missense_Mutation_p.E311D|NRG1_ENST00000523079.1_Missense_Mutation_p.E96D|NRG1_ENST00000519301.1_Missense_Mutation_p.E75D|NRG1_ENST00000341377.5_Missense_Mutation_p.E96D|NRG1_ENST00000521670.1_Missense_Mutation_p.E96D|NRG1_ENST00000287842.3_Missense_Mutation_p.E96D|NRG1_ENST00000287845.5_Missense_Mutation_p.E96D|NRG1_ENST00000338921.4_Missense_Mutation_p.E96D			Q02297	NRG1_HUMAN	neuregulin 1	96	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAAGTCAGAACTTCGCATTA	0.378																																																	0													168	154	159					8																	32463089		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.288A>C	8.37:g.32463089A>C	ENSP00000384620:p.Glu96Asp		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.E96D	ENST00000405005.3	37	c.288	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	13.12	2.142366	0.37825	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	T;T;T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.5	0.444	0.16592	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.708602	0.14031	N	0.346133	T	0.76263	0.3963	L	0.58669	1.825	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.997;0.998;0.999;0.999;0.998;0.998;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.996;0.995;0.998;0.997;0.992;0.996;0.994;0.997;0.995;0.997;0.994;0.983	T	0.72717	-0.4209	10	0.72032	D	0.01	-9.0803	11.022	0.47724	0.6253:0.0:0.3747:0.0	.	96;96;96;95;95;96;96;96;96;96;96;311	E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8;Q02297-9	.;.;.;.;.;.;.;NRG1_HUMAN;.;.;.;.	D	75;75;311;164;96;96;96;96;96;96;96;96;96	ENSP00000430053:E75D;ENSP00000429582:E75D;ENSP00000434640:E311D;ENSP00000429067:E164D;ENSP00000430120:E96D;ENSP00000343395:E96D;ENSP00000349275:E96D;ENSP00000287840:E96D;ENSP00000287845:E96D;ENSP00000340497:E96D;ENSP00000287842:E96D;ENSP00000384620:E96D;ENSP00000428828:E96D	ENSP00000287840:E96D	E	+	3	2	NRG1	32582631	1.000000	0.71417	0.991000	0.47740	0.121000	0.20230	1.101000	0.31037	-0.339000	0.08401	-1.162000	0.01777	GAA	NRG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000157168		0.378	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	45	0	A			32463089	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.993	C	C	32463089	A	C	32463089	3	2	6	1	0	0	0	0	1	0	0	0	10686	40	2	4	1049	4	NRG1	8	32463089	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1463988	32463089	113900933	172	1645											
UNC5D	137970	genome.wustl.edu	37	chr8	35608143	35608143	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctacatcctgttactgccTtttggacccctttgcgtgtc	5	16	7	13	1	1	0	0	0	1	0	3	1	2	1	4	1	4	1	4	1	2	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:35608143T>A	ENST00000404895.2	+	13	2307	c.1979T>A	c.(1978-1980)cTt>cAt	p.L660H	UNC5D_ENST00000449677.1_Missense_Mutation_p.L236H|UNC5D_ENST00000420357.1_Missense_Mutation_p.L593H|UNC5D_ENST00000287272.2_Missense_Mutation_p.L591H|UNC5D_ENST00000416672.1_Missense_Mutation_p.L665H|UNC5D_ENST00000453357.2_Missense_Mutation_p.L655H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	660					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGTTACTGCCTTTTGGACCCC	0.468																																																	0													242	202	216					8																	35608143		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1979T>A	8.37:g.35608143T>A	ENSP00000385143:p.Leu660His		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.L660H	ENST00000404895.2	37	c.1979	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596042	0.86953	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.56103	0.52;0.96;0.95;0.52;0.48;2.42	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.67268	0.2875	L	0.46157	1.445	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.67711	-0.5600	10	0.52906	T	0.07	-16.0861	16.3317	0.83023	0.0:0.0:0.0:1.0	.	236;655;660	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	H	660;593;591;665;655;236	ENSP00000385143:L660H;ENSP00000392739:L593H;ENSP00000287272:L591H;ENSP00000412652:L665H;ENSP00000394303:L655H;ENSP00000397211:L236H	ENSP00000287272:L591H	L	+	2	0	UNC5D	35727685	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.698000	0.84413	2.264000	0.75181	0.533000	0.62120	CTT	UNC5D	-	NULL	ENSG00000156687		0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	79	0	T			35608143	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	11.36	78	10	SNP	0.999	A	A	35608143	T	A	35608143	3	1	6	1	0	0	0	0	1	0	0	0	17044	1609	56	5	2029	5	UNC5D	8	35608143	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3145054	35608143	110755879	173	1646											
HOOK3	84376	genome.wustl.edu	37	chr8	42828536	42828536	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgacagtcttcaaaaagaAaaggacgtgagtatatatat	17	11	9	4	1	2	3	1	2	1	1	2	4	2	4	0	1	0	2	0	1	8	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:42828536A>T	ENST00000307602.4	+	12	1427	c.1227A>T	c.(1225-1227)gaA>gaT	p.E409D		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	409					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTCAAAAAGAAAAGGACGTGA	0.308			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													52	56	54					8																	42828536		2202	4296	6498	SO:0001583	missense	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1227A>T	8.37:g.42828536A>T	ENSP00000305699:p.Glu409Asp		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_t-SNARE	p.E409D	ENST00000307602.4	37	c.1227	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469918	0.63625	.	.	ENSG00000168172	ENST00000307602	T	0.24151	1.87	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	L	0.57536	1.79	0.54753	D	0.999987	B	0.22683	0.073	B	0.31686	0.134	T	0.07868	-1.0750	10	0.51188	T	0.08	-23.3786	16.0334	0.80603	1.0:0.0:0.0:0.0	.	409	Q86VS8	HOOK3_HUMAN	D	409	ENSP00000305699:E409D	ENSP00000305699:E409D	E	+	3	2	HOOK3	42947693	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.634000	0.61325	2.243000	0.73865	0.533000	0.62120	GAA	HOOK3	-	pfam_Hook-related_fam	ENSG00000168172		0.308	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	-	0	40	0	A	NM_032410		42828536	1	tier1	-	no_errors	ENST00000307602	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	42828536	A	T	42828536	3	4	6	1	0	0	0	0	1	0	0	0	7311	11	1	5	1273	5	HOOK3	8	42828536	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	7220393	42828536	103535486	174	1647											
OPRK1	4986	genome.wustl.edu	37	chr8	54141976	54141976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaaagcagaagtcccGgaaacaccgcttgaagtttt	13	8	11	9	2	0	2	0	1	0	1	1	4	1	4	2	2	2	3	2	2	4	3	rs200955469		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:54141976G>A	ENST00000265572.3	-	4	1321	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000524278.1_Missense_Mutation_p.R253W|OPRK1_ENST00000520287.1_Missense_Mutation_p.R342W	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	342					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAGAAGTCCCGGAAACACCGC	0.493																																																	0													80	75	77					8																	54141976		2203	4300	6503	SO:0001583	missense	0				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.1024C>T	8.37:g.54141976G>A	ENSP00000265572:p.Arg342Trp		E5RHC9|Q499G4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R342W	ENST00000265572.3	37	c.1024	CCDS6152.1	8	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801618	0.70682	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.40225	1.04;1.04;1.04	5.8	-3.02	0.05446	.	0.126264	0.64402	D	0.000001	T	0.63070	0.2480	M	0.78049	2.395	0.42720	D	0.99367	D	0.76494	0.999	D	0.76071	0.987	T	0.69503	-0.5128	10	0.87932	D	0	.	19.1693	0.93570	0.0:0.0:0.6867:0.3133	.	342	P41145	OPRK_HUMAN	W	342;253;342;328	ENSP00000265572:R342W;ENSP00000430923:R253W;ENSP00000429706:R342W	ENSP00000265572:R342W	R	-	1	2	OPRK1	54304529	1.000000	0.71417	0.902000	0.35471	0.975000	0.68041	2.214000	0.42853	-0.763000	0.04658	-0.271000	0.10264	CGG	OPRK1	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Somatstn_rcpt	ENSG00000082556		0.493	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRK1	HGNC	protein_coding	OTTHUMT00000378048.1		0	20	0	G			54141976	-1			no_errors	ENST00000265572	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.997	A	A	54141976	G	A	54141976	3	1	6	1	0	0	0	0	1	0	0	0	10924	1115	39	1	122	1	OPRK1	8	54141976	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	11313440	54141976	92222046	175	1648											
VCPIP1	80124	genome.wustl.edu	37	chr8	67576954	67576954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacgaatggtactgggaGaaacagtcctgggttgccct	10	9	12	10	1	1	1	1	0	0	1	2	3	2	1	2	3	3	2	2	3	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:67576954G>T	ENST00000310421.4	-	1	2498	c.2240C>A	c.(2239-2241)tCt>tAt	p.S747Y	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	747					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGTACTGGGAGAAACAGTCCT	0.443																																					NSCLC(179;265 2915 6144 43644)												0													191	186	188					8																	67576954		2203	4300	6503	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2240C>A	8.37:g.67576954G>T	ENSP00000309031:p.Ser747Tyr		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.S747Y	ENST00000310421.4	37	c.2240	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817443	0.70912	.	.	ENSG00000175073	ENST00000310421	T	0.36699	1.24	5.67	5.67	0.87782	.	0.170611	0.53938	D	0.000051	T	0.48132	0.1483	L	0.44542	1.39	0.58432	D	0.999999	D	0.61080	0.989	P	0.53912	0.737	T	0.46133	-0.9213	10	0.87932	D	0	-12.1122	19.7688	0.96353	0.0:0.0:1.0:0.0	.	747	Q96JH7	VCIP1_HUMAN	Y	747	ENSP00000309031:S747Y	ENSP00000309031:S747Y	S	-	2	0	VCPIP1	67739508	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.135000	0.77276	2.648000	0.89879	0.655000	0.94253	TCT	VCPIP1	-	NULL	ENSG00000175073		0.443	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	-	0	34	0	G			67576954	-1	tier1	-	no_errors	ENST00000310421	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	T	T	67576954	G	T	67576954	3	4	6	1	0	0	0	0	1	0	0	0	17190	942	33	3	1440	3	VCPIP1	8	67576954	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	13434978	67576954	78787068	176	1649											
PREX2	80243	genome.wustl.edu	37	chr8	69104018	69104018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaaagctgcctatgtaGataaggtaaaaacagatgat	17	9	8	7	0	0	3	0	1	0	2	1	3	1	3	2	1	3	3	2	1	7	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:69104018G>T	ENST00000288368.4	+	36	4685	c.4408G>T	c.(4408-4410)Gat>Tat	p.D1470Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1470					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGCCTATGTAGATAAGGTAAA	0.308																																																	0													92	92	92					8																	69104018		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4408G>T	8.37:g.69104018G>T	ENSP00000288368:p.Asp1470Tyr		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D1470Y	ENST00000288368.4	37	c.4408	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551545	0.86127	.	.	ENSG00000046889	ENST00000288368	T	0.61627	0.09	5.48	5.48	0.80851	.	0.056518	0.64402	D	0.000002	T	0.73674	0.3617	M	0.67397	2.05	0.80722	D	1	D	0.58268	0.982	P	0.61874	0.895	T	0.75722	-0.3218	10	0.87932	D	0	.	18.7115	0.91658	0.0:0.0:1.0:0.0	.	1470	Q70Z35	PREX2_HUMAN	Y	1470	ENSP00000288368:D1470Y	ENSP00000288368:D1470Y	D	+	1	0	PREX2	69266572	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.234000	0.95347	2.729000	0.93468	0.650000	0.86243	GAT	PREX2	-	NULL	ENSG00000046889		0.308	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	53	0	G	NM_025170		69104018	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	8.89	40	4	SNP	1.000	T	T	69104018	G	T	69104018	3	4	6	1	0	0	0	0	1	0	0	0	12519	942	33	3	4779	3	PREX2	8	69104018	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1527064	69104018	77260004	177	1650											
NECAB1	64168	genome.wustl.edu	37	chr8	91893332	91893332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacctgaatctttccatcCtgaaggcaatgggcaaaaca	15	8	8	10	0	1	3	0	2	1	1	3	3	3	3	3	2	1	2	3	2	6	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:91893332C>T	ENST00000417640.2	+	5	668	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	111						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			TCTTTCCATCCTGAAGGCAAT	0.299																																																	0													40	36	37					8																	91893332		1812	4070	5882	SO:0001819	synonymous_variant	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.331C>T	8.37:g.91893332C>T			Q6NUS7|Q96AZ7|Q9HBW8	Silent	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.L111	ENST00000417640.2	37	c.331	CCDS47889.1	8																																																																																			NECAB1	-	NULL	ENSG00000123119		0.299	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	-	0	27	0	C	NM_022351		91893332	1	tier1	-	no_errors	ENST00000417640	ensembl	human	known	74_37	silent	11.54	46	6	SNP	1.000	T	T	91893332	C	T	91893332	2	4	6	1	0	0	0	0	0	0	0	1	10343	680	24	3		3	NECAB1	8	91893332	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	22789314	91893332	54470690	178	1651											
RBM12B	389677	genome.wustl.edu	37	chr8	94746364	94746364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcctgaagtgctctggggGtggccgccggaagtgctctg	4	8	17	12	3	2	1	0	1	2	0	2	2	2	2	4	4	2	2	4	4	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:94746364G>A	ENST00000399300.2	-	3	2488	c.2275C>T	c.(2275-2277)Ccc>Tcc	p.P759S	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.P639S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	759							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGCTCTGGGGGTGGCCGCCGG	0.682																																																	0													31	37	35					8																	94746364		1796	4041	5837	SO:0001583	missense	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2275C>T	8.37:g.94746364G>A	ENSP00000382239:p.Pro759Ser		A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P759S	ENST00000399300.2	37	c.2275	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536278	0.27475	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07908	3.15;3.19	4.66	-0.876	0.10624	.	.	.	.	.	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	B	0.18461	0.028	B	0.12156	0.007	T	0.40701	-0.9549	9	0.51188	T	0.08	-3.4385	2.0554	0.03580	0.2624:0.1314:0.4716:0.1346	.	759	Q8IXT5	RB12B_HUMAN	S	759;639	ENSP00000382239:P759S;ENSP00000427729:P639S	ENSP00000382239:P759S	P	-	1	0	RBM12B	94815540	0.140000	0.22579	0.003000	0.11579	0.219000	0.24729	0.576000	0.23744	-0.150000	0.11195	0.563000	0.77884	CCC	RBM12B	-	NULL	ENSG00000183808		0.682	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	-	0	21	0	G	NM_203390		94746364	-1	tier1	-	no_errors	ENST00000399300	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.007	A	A	94746364	G	A	94746364	3	1	6	1	0	0	0	0	1	0	0	0	13159	1261	44	3	734	3	RBM12B	8	94746364	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2853032	94746364	51617658	179	1652											
FBXO43	286151	genome.wustl.edu	37	chr8	101146147	101146147	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgataagcacacagacaTaacacacaaaagtcaaaacc	21	4	4	12	0	1	2	1	1	0	1	1	2	1	2	2	0	3	1	2	0	6	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:101146147T>C	ENST00000428847.2	-	5	2326	c.2010A>G	c.(2008-2010)ttA>ttG	p.L670L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	670					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CACACAGACATAACACACAAA	0.473																																																	0													144	139	140					8																	101146147		1943	4145	6088	SO:0001819	synonymous_variant	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.2010A>G	8.37:g.101146147T>C				Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.L670	ENST00000428847.2	37	c.2010	CCDS47904.1	8																																																																																			FBXO43	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000156509		0.473	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1		0	19	0	T	XM_209918		101146147	-1			no_errors	ENST00000428847	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.905	C	C	101146147	T	C	101146147	2	2	6	1	0	0	0	0	0	0	0	1	5774	1403	49	4		4	FBXO43	8	101146147	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	6399783	101146147	45217875	180	1653											
RIMS2	9699	genome.wustl.edu	37	chr8	104898169	104898169	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacccatagatagaccagacTtgaggcgtactgactcacta	13	9	8	11	1	1	5	1	2	0	3	1	5	1	5	2	1	2	1	2	1	5	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:104898169T>C	ENST00000436393.2	+	2	917	c.676T>C	c.(676-678)Ttg>Ctg	p.L226L	RIMS2_ENST00000262231.10_Silent_p.L256L|RIMS2_ENST00000406091.3_Silent_p.L448L|RIMS2_ENST00000507740.1_Silent_p.L256L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	479					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.L256L(1)|p.L226L(1)|p.L484L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGACCAGACTTGAGGCGTAC	0.463										HNSCC(12;0.0054)																																							3	Substitution - coding silent(3)	large_intestine(3)											102	94	97					8																	104898169		1929	4148	6077	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.676T>C	8.37:g.104898169T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.L448	ENST00000436393.2	37	c.1342		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	30	0	T	NM_001100117		104898169	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	25.81	23	8	SNP	0.117	C	C	104898169	T	C	104898169	2	2	6	1	0	0	0	0	0	0	0	1	13413	1606	56	4		4	RIMS2	8	104898169	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3752022	104898169	41465853	181	1654											
ANGPT1	284	genome.wustl.edu	37	chr8	108297012	108297012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttagcatgtactgcctcTgactggtaatggcaaaaata	12	13	8	8	0	2	1	0	1	2	0	2	1	2	1	1	2	3	4	1	2	6	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:108297012T>C	ENST00000520734.1	-	6	788	c.503A>G	c.(502-504)cAg>cGg	p.Q168R	ANGPT1_ENST00000520052.1_Missense_Mutation_p.Q167R|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	368					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTACTGCCTCTGACTGGTAAT	0.408																																																	0													118	102	107					8																	108297012		2203	4300	6503	SO:0001583	missense	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.503A>G	8.37:g.108297012T>C	ENSP00000430750:p.Gln168Arg		Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q368R	ENST00000520734.1	37	c.1103		8	.	.	.	.	.	.	.	.	.	.	T	15.13	2.740838	0.49151	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.048650	0.85682	D	0.000000	T	0.72309	0.3444	L	0.42487	1.325	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.14578	0.005;0.011;0.011	T	0.66999	-0.5781	10	0.37606	T	0.19	.	16.0098	0.80391	0.0:0.0:0.0:1.0	.	167;368;368	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	R	368;367;168;167	ENSP00000428340:Q368R;ENSP00000297450:Q367R;ENSP00000430750:Q168R;ENSP00000429349:Q167R	ENSP00000297450:Q367R	Q	-	2	0	ANGPT1	108366188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.242000	0.72376	2.187000	0.69744	0.528000	0.53228	CAG	ANGPT1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000154188		0.408	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	-	0	52	0	T	NM_001146, NM_139290		108297012	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	missense	34.12	56	29	SNP	1.000	C	C	108297012	T	C	108297012	3	2	6	1	0	0	0	0	1	0	0	0	610	1580	55	4	405	4	ANGPT1	8	108297012	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3398843	108297012	38067010	182	1655											
CSMD3	114788	genome.wustl.edu	37	chr8	113662429	113662429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgactccaccagtggttttTttcgcatagaaggggctctt	8	14	10	9	1	1	2	0	1	1	1	3	2	2	2	2	3	0	3	2	3	2	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:113662429T>C	ENST00000297405.5	-	19	3398	c.3154A>G	c.(3154-3156)Aaa>Gaa	p.K1052E	CSMD3_ENST00000352409.3_Missense_Mutation_p.K1052E|CSMD3_ENST00000343508.3_Missense_Mutation_p.K1012E|CSMD3_ENST00000455883.2_Missense_Mutation_p.K948E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1052	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGTGGTTTTTTTCGCATAGA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													112	111	111					8																	113662429		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3154A>G	8.37:g.113662429T>C	ENSP00000297405:p.Lys1052Glu		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K1052E	ENST00000297405.5	37	c.3154	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996446	0.54147	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	N	0.10782	0.045	0.31564	N	0.657146	D;D;B	0.76494	0.999;0.999;0.185	D;D;B	0.87578	0.997;0.998;0.281	T	0.54925	-0.8220	10	0.02654	T	1	.	16.0365	0.80635	0.0:0.0:0.0:1.0	.	948;1052;1012	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	1012;1052;392;948;1052	ENSP00000345799:K1012E;ENSP00000297405:K1052E;ENSP00000341558:K392E;ENSP00000412263:K948E;ENSP00000343124:K1052E	ENSP00000297405:K1052E	K	-	1	0	CSMD3	113731605	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.249000	0.72427	2.196000	0.70406	0.459000	0.35465	AAA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	52	0	T	NM_052900		113662429	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	C	C	113662429	T	C	113662429	3	2	6	1	0	0	0	0	1	0	0	0	3955	1850	64	4	8181	4	CSMD3	8	113662429	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	5365417	113662429	32701593	183	1656											
CSMD3	114788	genome.wustl.edu	37	chr8	114111188	114111188	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgttcctccacaagcatcTtcagctgttaaaaatgacaa	14	12	5	10	0	2	1	1	1	1	0	4	1	4	1	2	0	2	4	2	0	5	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:114111188T>A	ENST00000297405.5	-	5	958	c.714A>T	c.(712-714)gaA>gaT	p.E238D	CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.E238D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E198D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E238D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACAAGCATCTTCAGCTGTTA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													97	86	89					8																	114111188		2203	4299	6502	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.714A>T	8.37:g.114111188T>A	ENSP00000297405:p.Glu238Asp		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E238D	ENST00000297405.5	37	c.714	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	11.74	1.730053	0.30684	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.1	5.1	0.69264	CUB (1);	0.076277	0.51477	D	0.000097	T	0.33818	0.0876	L	0.38175	1.15	0.27722	N	0.945093	B;B;D;B	0.59767	0.001;0.004;0.986;0.069	B;B;D;B	0.69654	0.003;0.006;0.965;0.091	T	0.11817	-1.0572	10	0.13853	T	0.58	.	10.0213	0.42044	0.0:0.0869:0.0:0.9131	.	238;238;238;198	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	D	198;238;238;238	ENSP00000345799:E198D;ENSP00000297405:E238D;ENSP00000412263:E238D;ENSP00000343124:E238D	ENSP00000297405:E238D	E	-	3	2	CSMD3	114180364	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.394000	0.44450	2.055000	0.61198	0.482000	0.46254	GAA	CSMD3	-	NULL	ENSG00000164796		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	38	0	T	NM_052900		114111188	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	114111188	T	A	114111188	3	1	6	1	0	0	0	0	1	0	0	0	3955	1606	56	5	10677	5	CSMD3	8	114111188	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	448759	114111188	32252834	184	1657											
TG	7038	genome.wustl.edu	37	chr8	134042123	134042123	+	Frame_Shift_Del	DEL	G	G	-																															ccaggtggcggctctgacctGggtgcagacccacatccgag																										TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:134042123delG	ENST00000220616.4	+	41	7134	c.7094delG	c.(7093-7095)tggfs	p.W2365fs	TG_ENST00000542445.1_Frame_Shift_Del_p.W735fs|TG_ENST00000377869.1_Frame_Shift_Del_p.W2308fs|TG_ENST00000519543.1_Frame_Shift_Del_p.W498fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2365					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTCTGACCTGGGTGCAGACC	0.612																																																	0													45	47	47					8																	134042123		2203	4300	6503	SO:0001589	frameshift_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7094delG	8.37:g.134042123delG	ENSP00000220616:p.Trp2365fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.V2366fs	ENST00000220616.4	37	c.7094	CCDS34944.1	8																																																																																			TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.612	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1		0	57	0	G	NM_003235		134042123	1			no_errors	ENST00000220616	ensembl	human	known	74_37	frame_shift_del	7.41	100	8	DEL	1.000	0	-	134042123	G	-	134042123	7	5	6	1	0	1	0	1	0	0	0	0	15860	1357	47	0	7256	0	TG	8	134042123	Frame_Shift_Del	DEL	G	TCGA-2H-A9GK-01A-11D-A37C-09	19930935	134042123	12321899	185	1658											
COL22A1	169044	genome.wustl.edu	37	chr8	139668162	139668162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagccaagagatttatgtccCctggagacagtagtgaagag	13	9	12	7	0	0	4	0	1	0	3	1	6	1	4	3	1	1	1	3	1	5	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:139668162C>A	ENST00000303045.6	-	45	3757	c.3311G>T	c.(3310-3312)gGg>gTg	p.G1104V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1084V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1104	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ATTTATGTCCCCTGGAGACAG	0.388										HNSCC(7;0.00092)																																							0													202	205	204					8																	139668162		2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3311G>T	8.37:g.139668162C>A	ENSP00000303153:p.Gly1104Val		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1104V	ENST00000303045.6	37	c.3311	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372928	0.24857	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.97016	-3.51;-4.21	5.28	-1.92	0.07618	.	0.395551	0.21251	N	0.077657	D	0.92818	0.7716	N	0.20610	0.595	0.42249	D	0.991969	P;P	0.50272	0.933;0.89	P;P	0.52957	0.714;0.521	D	0.88044	0.2783	10	0.29301	T	0.29	.	10.8146	0.46569	0.0:0.4455:0.0:0.5545	.	1084;1104	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	1104;1084;797	ENSP00000303153:G1104V;ENSP00000387655:G1084V	ENSP00000303153:G1104V	G	-	2	0	COL22A1	139737344	0.309000	0.24518	0.991000	0.47740	0.694000	0.40290	-0.263000	0.08670	-0.328000	0.08539	-0.140000	0.14226	GGG	COL22A1	-	NULL	ENSG00000169436		0.388	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	39	0	C	XM_291257		139668162	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.991	A	A	139668162	C	A	139668162	3	1	6	1	0	0	0	0	1	0	0	0	3688	623	22	3	1653	3	COL22A1	8	139668162	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5626039	139668162	6695860	186	1659											
COL22A1	169044	genome.wustl.edu	37	chr8	139833602	139833602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacagcatctttcatggcaCccacagcgttgtactcgact	9	11	8	13	2	2	1	1	1	1	0	3	2	2	1	1	1	3	4	1	1	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr8:139833602C>A	ENST00000303045.6	-	7	1468	c.1022G>T	c.(1021-1023)gGt>gTt	p.G341V	COL22A1_ENST00000435777.1_Missense_Mutation_p.G341V	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	341	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTCATGGCACCCACAGCGTT	0.582										HNSCC(7;0.00092)																																							0													157	154	155					8																	139833602		2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1022G>T	8.37:g.139833602C>A	ENSP00000303153:p.Gly341Val		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G341V	ENST00000303045.6	37	c.1022	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982974	0.74474	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.14022	2.54;2.54	5.51	5.51	0.81932	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.51477	D	0.000100	T	0.43188	0.1236	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32481	-0.9905	9	.	.	.	.	18.4798	0.90807	0.0:1.0:0.0:0.0	.	341	Q8NFW1	COMA1_HUMAN	V	341	ENSP00000303153:G341V;ENSP00000387655:G341V	.	G	-	2	0	COL22A1	139902784	1.000000	0.71417	0.945000	0.38365	0.376000	0.30014	7.542000	0.82095	2.616000	0.88540	0.558000	0.71614	GGT	COL22A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000169436		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	49	0	C	XM_291257		139833602	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	21.31	48	13	SNP	1.000	A	A	139833602	C	A	139833602	3	1	6	1	0	0	0	0	1	0	0	0	3688	507	18	3	4094	3	COL22A1	8	139833602	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	165440	139833602	6530420	187	1660											
PTPRD	5789	genome.wustl.edu	37	chr9	8528696	8528696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaccactggctgcacaaaGcatggtggccgtgcgagtac	10	8	12	11	2	0	0	0	0	0	0	0	1	0	0	2	3	5	4	2	3	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:8528696G>A	ENST00000381196.4	-	12	979	c.436C>T	c.(436-438)Ctt>Ttt	p.L146F	PTPRD_ENST00000358503.5_Missense_Mutation_p.L146F|PTPRD_ENST00000486161.1_Missense_Mutation_p.L146F|PTPRD_ENST00000356435.5_Missense_Mutation_p.L146F|PTPRD_ENST00000397606.3_Missense_Mutation_p.L146F|PTPRD_ENST00000397617.3_Missense_Mutation_p.L146F|PTPRD_ENST00000463477.1_Missense_Mutation_p.L146F|PTPRD_ENST00000355233.5_Missense_Mutation_p.L146F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L146F|PTPRD_ENST00000397611.3_Missense_Mutation_p.L146F|PTPRD_ENST00000537002.1_Missense_Mutation_p.L146F|PTPRD_ENST00000360074.4_Missense_Mutation_p.L146F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	146	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTGCACAAAGCATGGTGGCC	0.483										TSP Lung(15;0.13)																																							0													122	111	115					9																	8528696		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.436C>T	9.37:g.8528696G>A	ENSP00000370593:p.Leu146Phe		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.L146F	ENST00000381196.4	37	c.436	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915840	0.52546	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;2.7	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.063256	0.64402	D	0.000012	T	0.68760	0.3036	N	0.21373	0.66	0.80722	D	1	P;D;D;D;D;D;D;D;D;D	0.89917	0.937;1.0;0.999;1.0;1.0;0.996;1.0;0.998;1.0;0.998	P;D;D;D;D;P;D;D;D;D	0.91635	0.809;0.993;0.993;0.993;0.999;0.854;0.988;0.964;0.979;0.965	T	0.65969	-0.6039	9	.	.	.	.	10.7375	0.46133	0.1433:0.0:0.8567:0.0	.	146;146;146;146;146;146;146;146;146;146	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	146	ENSP00000370593:L146F;ENSP00000348812:L146F;ENSP00000353187:L146F;ENSP00000351293:L146F;ENSP00000347373:L146F;ENSP00000380741:L146F;ENSP00000380735:L146F;ENSP00000440515:L146F;ENSP00000438164:L146F;ENSP00000417093:L146F;ENSP00000380731:L146F;ENSP00000417661:L146F	.	L	-	1	0	PTPRD	8518696	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.835000	0.55805	2.941000	0.99782	0.655000	0.94253	CTT	PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000153707		0.483	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	56	0	G			8528696	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	8528696	G	A	8528696	3	1	6	1	0	0	0	0	1	0	0	0	12844	971	34	3	5498	3	PTPRD	9	8528696	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		8528696	132684735	188	1661											
TAF1L	138474	genome.wustl.edu	37	chr9	32635065	32635065	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacacacaggtaatagcatcTtggtccttatccttcttcat	10	14	6	11	0	3	0	1	0	2	0	5	1	5	0	2	2	1	2	2	2	3	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:32635065T>G	ENST00000242310.4	-	1	602	c.513A>C	c.(511-513)caA>caC	p.Q171H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	171			Q -> E (in dbSNP:rs56352331). {ECO:0000269|PubMed:17344846}.		DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TAATAGCATCTTGGTCCTTAT	0.458																																																	0													194	154	168					9																	32635065		2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.513A>C	9.37:g.32635065T>G	ENSP00000418379:p.Gln171His		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.Q171H	ENST00000242310.4	37	c.513	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242735	0.39598	.	.	ENSG00000122728	ENST00000242310	T	0.08546	3.08	1.04	-1.27	0.09347	.	0.454846	0.24294	N	0.039797	T	0.04998	0.0134	N	0.22421	0.69	0.20563	N	0.999883	P	0.37997	0.614	B	0.39738	0.308	T	0.30650	-0.9971	10	0.45353	T	0.12	.	3.9729	0.09462	0.0:0.4896:0.0:0.5104	.	171	Q8IZX4	TAF1L_HUMAN	H	171	ENSP00000418379:Q171H	ENSP00000418379:Q171H	Q	-	3	2	TAF1L	32625065	0.732000	0.28121	0.953000	0.39169	0.226000	0.24999	-0.139000	0.10358	-0.399000	0.07668	-1.073000	0.02249	CAA	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0	95	0	T			32635065	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	20.45	105	27	SNP	0.684	G	G	32635065	T	G	32635065	3	3	6	1	0	0	0	0	1	0	0	0	15570	1606	56	4	4971	4	TAF1L	9	32635065	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	24106369	32635065	108578366	189	1662											
IL11RA	3590	genome.wustl.edu	37	chr9	34657096	34657096	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagaacttctcttgcacttgGagtcccagccagatcagcgg	9	9	11	12	1	2	2	1	0	1	2	4	4	3	3	2	2	4	1	2	2	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:34657096G>A	ENST00000555003.1	+	5	1752	c.396G>A	c.(394-396)tgG>tgA	p.W132*	IL11RA_ENST00000602473.1_Nonsense_Mutation_p.W132*|IL11RA_ENST00000378817.4_Nonsense_Mutation_p.W132*|IL11RA_ENST00000441545.2_Nonsense_Mutation_p.W132*|GALT_ENST00000556278.1_Nonsense_Mutation_p.W276*|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000318041.9_Nonsense_Mutation_p.W132*			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	132	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CTTGCACTTGGAGTCCCAGCC	0.572																																																	0													119	105	109					9																	34657096		2203	4300	6503	SO:0001587	stop_gained	0			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.396G>A	9.37:g.34657096G>A	ENSP00000450565:p.Trp132*		Q16542|Q5VZ80|Q7KYJ7	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W132*	ENST00000555003.1	37	c.396	CCDS6567.1	9	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007456	0.75046	.	.	ENSG00000258728;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070;ENSG00000137070	ENST00000556278;ENST00000555003;ENST00000441545;ENST00000553620;ENST00000556792;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9798	14.2807	0.66211	0.0:0.0:1.0:0.0	.	.	.	.	X	276;132;132;55;132;132;132;132;132	.	ENSP00000326500:W132X	W	+	3	0	RP11-195F19.29;IL11RA	34647096	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.331000	0.65905	2.425000	0.82216	0.655000	0.94253	TGG	IL11RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000137070		0.572	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL11RA	HGNC	protein_coding	OTTHUMT00000410625.1	-	0	58	0	G	NM_001142784		34657096	1	tier1	-	no_errors	ENST00000318041	ensembl	human	known	74_37	nonsense	10.77	57	7	SNP	1.000	A	A	34657096	G	A	34657096	4	1	6	1	0	0	0	0	0	1	0	0	7650	1183	41	3	410	3	IL11RA	9	34657096	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2022031	34657096	106556335	190	1663											
FBXO10	26267	genome.wustl.edu	37	chr9	37515946	37515946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttttgcatgatgcattctCggttgtttgagatctgctga	6	18	11	6	1	2	3	0	3	2	1	3	4	2	3	0	1	3	6	0	1	0	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:37515946C>T	ENST00000432825.2	-	10	2699	c.2651G>A	c.(2650-2652)cGa>cAa	p.R884Q	FBXO10_ENST00000541829.1_Missense_Mutation_p.R409Q|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	884					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GATGCATTCTCGGTTGTTTGA	0.517																																																	0													283	251	261					9																	37515946		1963	4162	6125	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2651G>A	9.37:g.37515946C>T	ENSP00000403802:p.Arg884Gln		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.R884Q	ENST00000432825.2	37	c.2651	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197097	0.38806	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80480	-1.38;-1.38	5.39	0.847	0.18961	Pectin lyase fold/virulence factor (1);	0.850234	0.10386	N	0.680962	T	0.55033	0.1895	N	0.03608	-0.345	0.25450	N	0.988018	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.001	T	0.41088	-0.9528	10	0.12430	T	0.62	-1.3173	7.0273	0.24946	0.0:0.3617:0.0:0.6383	.	763;409;884	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	Q	884;409	ENSP00000403802:R884Q;ENSP00000441307:R409Q	ENSP00000403802:R884Q	R	-	2	0	FBXO10	37505946	0.986000	0.35501	0.976000	0.42696	0.769000	0.43574	1.266000	0.33039	0.248000	0.21435	-0.254000	0.11334	CGA	FBXO10	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000147912		0.517	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0	27	0	C			37515946	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.889	T	T	37515946	C	T	37515946	3	4	6	1	0	0	0	0	1	0	0	0	5748	884	31	1	227	1	FBXO10	9	37515946	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2858850	37515946	103697485	191	1664											
FBXO10	26267	genome.wustl.edu	37	chr9	37516074	37516074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaacgagtggatccggttCtttattacctgggagaggca	9	10	14	8	3	1	1	0	0	1	1	2	5	2	3	2	5	2	2	2	5	3	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:37516074C>G	ENST00000432825.2	-	10	2571	c.2523G>C	c.(2521-2523)aaG>aaC	p.K841N	FBXO10_ENST00000541829.1_Missense_Mutation_p.K366N|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	841					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.K847N(1)		breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGATCCGGTTCTTTATTACCT	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)											62	55	57					9																	37516074		1898	4100	5998	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2523G>C	9.37:g.37516074C>G	ENSP00000403802:p.Lys841Asn		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.K841N	ENST00000432825.2	37	c.2523	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	C	15.97	2.991148	0.54041	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.73897	-0.79;-0.79	5.43	4.52	0.55395	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.055023	0.64402	D	0.000003	T	0.68860	0.3047	N	0.19112	0.55	0.42656	D	0.993461	D;P;P	0.53312	0.959;0.901;0.901	P;P;P	0.55749	0.783;0.71;0.71	T	0.66933	-0.5798	10	0.33940	T	0.23	-31.462	9.8872	0.41268	0.0:0.8399:0.0:0.1601	.	720;366;841	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	N	841;366	ENSP00000403802:K841N;ENSP00000441307:K366N	ENSP00000403802:K841N	K	-	3	2	FBXO10	37506074	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.983000	0.40648	2.552000	0.86080	0.511000	0.50034	AAG	FBXO10	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000147912		0.542	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3		0	12	0	C			37516074	-1			no_errors	ENST00000432825	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	G	G	37516074	C	G	37516074	3	3	6	1	0	0	0	0	1	0	0	0	5748	912	32	5	355	5	FBXO10	9	37516074	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	128	37516074	103697357	192	1665											
TRPM3	80036	genome.wustl.edu	37	chr9	73376527	73376527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattacctaccaattccttcTtcttcatgcactccatgagg	10	14	4	13	0	3	1	1	1	2	0	5	1	5	1	4	1	3	1	4	1	4	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:73376527T>C	ENST00000377111.2	-	8	1505	c.1262A>G	c.(1261-1263)aAg>aGg	p.K421R	TRPM3_ENST00000377105.1_Missense_Mutation_p.K268R|TRPM3_ENST00000358082.3_Missense_Mutation_p.K293R|TRPM3_ENST00000377106.1_Missense_Mutation_p.K293R|TRPM3_ENST00000357533.2_Missense_Mutation_p.K423R|TRPM3_ENST00000396285.1_Missense_Mutation_p.K268R|TRPM3_ENST00000377110.3_Missense_Mutation_p.K421R|TRPM3_ENST00000408909.2_Missense_Mutation_p.K268R|TRPM3_ENST00000360823.2_Missense_Mutation_p.K293R|TRPM3_ENST00000377101.1_Missense_Mutation_p.K268R|TRPM3_ENST00000396292.4_Missense_Mutation_p.K293R|TRPM3_ENST00000423814.3_Missense_Mutation_p.K448R|TRPM3_ENST00000396280.5_Missense_Mutation_p.K268R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	446					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAATTCCTTCTTCTTCATGCA	0.433																																																	0													123	106	112					9																	73376527		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1262A>G	9.37:g.73376527T>C	ENSP00000366315:p.Lys421Arg		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.K448R	ENST00000377111.2	37	c.1343		9	.	.	.	.	.	.	.	.	.	.	T	15.56	2.868561	0.51588	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101	T;T;T;T;T;T;T;T;T;T;T;T	0.55588	1.54;1.74;0.51;0.51;1.74;1.74;1.74;1.74;0.51;0.51;0.55;1.54	6.17	6.17	0.99709	.	0.049170	0.85682	D	0.000000	T	0.56062	0.1960	N	0.17082	0.46	0.49130	D	0.999758	B;B;B;B;D;B;B;D;B;B	0.67145	0.212;0.003;0.004;0.009;0.996;0.048;0.004;0.996;0.028;0.006	B;B;B;B;D;B;B;D;B;B	0.76071	0.04;0.02;0.01;0.013;0.987;0.028;0.003;0.987;0.079;0.017	T	0.51764	-0.8664	10	0.13470	T	0.59	-30.221	16.8222	0.85835	0.0:0.0:0.0:1.0	.	446;268;421;421;421;423;293;268;421;268	Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.	R	421;421;293;293;268;423;268;268;293;293;448;268	ENSP00000366315:K421R;ENSP00000366314:K421R;ENSP00000366310:K293R;ENSP00000354066:K293R;ENSP00000366309:K268R;ENSP00000350140:K423R;ENSP00000386127:K268R;ENSP00000379581:K268R;ENSP00000379587:K293R;ENSP00000350791:K293R;ENSP00000389542:K448R;ENSP00000366305:K268R	ENSP00000350140:K423R	K	-	2	0	TRPM3	72566347	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	AAG	TRPM3	-	NULL	ENSG00000083067		0.433	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	40	0	T	NM_206945		73376527	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	38.30	28	18	SNP	1.000	C	C	73376527	T	C	73376527	3	2	6	1	0	0	0	0	1	0	0	0	16635	1609	56	4	3973	4	TRPM3	9	73376527	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	35860453	73376527	67836904	193	1666											
TLE1	7088	genome.wustl.edu	37	chr9	84230981	84230981	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagaagcatccttctttagCaggcgatttttgtcgattcc	8	15	8	10	2	1	1	0	0	1	1	4	3	3	1	2	1	2	2	2	1	3	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:84230981C>A	ENST00000376499.3	-	11	1898	c.834G>T	c.(832-834)ctG>ctT	p.L278L	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376484.1_5'Flank	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	278	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCTTCTTTAGCAGGCGATTTT	0.478																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0													121	119	120					9																	84230981		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.834G>T	9.37:g.84230981C>A			A8K495|Q5T3G4|Q969V9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.L278	ENST00000376499.3	37	c.834	CCDS6661.1	9																																																																																			TLE1	-	NULL	ENSG00000196781		0.478	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1		0	40	0	C	NM_005077		84230981	-1			no_errors	ENST00000376499	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.935	A	A	84230981	C	A	84230981	2	1	6	1	0	0	0	0	0	0	0	1	15985	697	25	3		3	TLE1	9	84230981	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	10854454	84230981	56982450	194	1667											
GKAP1	80318	genome.wustl.edu	37	chr9	86368199	86368199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtgattacatttttcaGcttctggatttcagcatctt	8	19	7	7	0	4	2	2	2	2	0	4	3	4	3	0	1	3	2	0	1	1	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:86368199G>A	ENST00000376371.2	-	9	1214	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	GKAP1_ENST00000376365.3_Silent_p.L221L	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	272					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						ACATTTTTCAGCTTCTGGATT	0.313																																																	0													172	171	171					9																	86368199		2203	4297	6500	SO:0001819	synonymous_variant	0			BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"cGMP-dependent protein kinase anchoring protein 42kDa"	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.814C>T	9.37:g.86368199G>A			Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Silent	SNP	NULL	p.L272	ENST00000376371.2	37	c.814	CCDS35049.1	9																																																																																			GKAP1	-	NULL	ENSG00000165113		0.313	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKAP1	HGNC	protein_coding	OTTHUMT00000052839.2		0	58	0	G	NM_025211		86368199	-1			no_errors	ENST00000376371	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	A	A	86368199	G	A	86368199	2	1	6	1	0	0	0	0	0	0	0	1	6449	962	34	3		3	GKAP1	9	86368199	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2137218	86368199	54845232	195	1668											
WNK2	65268	genome.wustl.edu	37	chr9	96051729	96051729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctctaccaggagcacGtgcccacctcctcagcctca	7	8	7	19	1	4	0	2	0	2	0	5	1	5	1	5	1	5	2	5	1	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:96051729G>A	ENST00000297954.4	+	20	4804	c.4804G>A	c.(4804-4806)Gtg>Atg	p.V1602M	WNK2_ENST00000349097.3_Missense_Mutation_p.V1214M|WNK2_ENST00000427277.2_Missense_Mutation_p.V1177M|WNK2_ENST00000395477.2_Missense_Mutation_p.V1565M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1602					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGGAGCACGTGCCCACCTC	0.667																																																	0													28	32	31					9																	96051729		2203	4300	6503	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4804G>A	9.37:g.96051729G>A	ENSP00000297954:p.Val1602Met		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V1602M	ENST00000297954.4	37	c.4804		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.20|19.20	3.780753|3.780753	0.70222|0.70222	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.27890	.|1.64;1.64;1.64;1.64	5.21|5.21	4.28|4.28	0.50868|0.50868	.|.	.|0.378995	.|0.27402	.|N	.|0.019540	T|T	0.46814|0.46814	0.1412|0.1412	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|D;P;D;D;P	.|0.89917	.|0.971;0.938;0.987;1.0;0.937	.|P;B;P;D;B	.|0.80764	.|0.611;0.367;0.499;0.994;0.272	T|T	0.34054|0.34054	-0.9844|-0.9844	5|10	.|0.39692	.|T	.|0.17	.|.	8.6133|8.6133	0.33815|0.33815	0.1862:0.0:0.8138:0.0|0.1862:0.0:0.8138:0.0	.|.	.|1565;1560;1168;1565;1602	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	H|M	1168|1602;1565;1214;1177	.|ENSP00000297954:V1602M;ENSP00000378860:V1565M;ENSP00000297876:V1214M;ENSP00000411181:V1177M	.|ENSP00000297954:V1602M	R|V	+|+	2|1	0|0	WNK2|WNK2	95091550|95091550	0.977000|0.977000	0.34250|0.34250	0.921000|0.921000	0.36526|0.36526	0.969000|0.969000	0.65631|0.65631	1.858000|1.858000	0.39408|0.39408	1.125000|1.125000	0.41998|0.41998	0.561000|0.561000	0.74099|0.74099	CGT|GTG	WNK2	-	NULL	ENSG00000165238		0.667	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1		0	22	0	G	NM_006648		96051729	1			no_errors	ENST00000297954	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.980	A	A	96051729	G	A	96051729	3	1	6	1	0	0	0	0	1	0	0	0	17427	1145	40	1	4767	1	WNK2	9	96051729	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	9683530	96051729	45161702	196	1669											
INVS	27130	genome.wustl.edu	37	chr9	102866832	102866832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagagaacctgctgtttgCtggttcatcattagcatcac	9	13	9	10	0	4	1	4	0	0	1	4	2	4	1	1	1	4	5	1	1	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:102866832C>T	ENST00000262457.2	+	2	214	c.29C>T	c.(28-30)gCt>gTt	p.A10V	INVS_ENST00000541287.1_5'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.A10V|INVS_ENST00000374921.3_Missense_Mutation_p.A10V|INVS_ENST00000460636.2_3'UTR|RN7SL75P_ENST00000461926.2_RNA	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	10					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CTGCTGTTTGCTGGTTCATCA	0.458																																																	0													122	101	108					9																	102866832		2203	4300	6503	SO:0001583	missense	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.29C>T	9.37:g.102866832C>T	ENSP00000262457:p.Ala10Val		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.A10V	ENST00000262457.2	37	c.29	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926030	0.34002	.	.	ENSG00000119509	ENST00000262457;ENST00000262456;ENST00000374921	T;T;T	0.52754	1.06;1.07;0.65	5.49	4.58	0.56647	.	0.696787	0.14485	N	0.316733	T	0.28699	0.0711	N	0.08118	0	0.80722	D	1	B;B	0.23249	0.012;0.082	B;B	0.21917	0.01;0.037	T	0.10222	-1.0639	10	0.42905	T	0.14	.	11.3287	0.49463	0.0:0.7106:0.2894:0.0	.	10;10	Q9Y283;Q9Y283-2	INVS_HUMAN;.	V	10	ENSP00000262457:A10V;ENSP00000262456:A10V;ENSP00000364056:A10V	ENSP00000262456:A10V	A	+	2	0	INVS	101906653	0.835000	0.29415	0.430000	0.26722	0.129000	0.20672	1.231000	0.32624	2.579000	0.87056	0.563000	0.77884	GCT	INVS	-	NULL	ENSG00000119509		0.458	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1		0	34	0	C	NM_014425		102866832	1			no_errors	ENST00000262457	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.916	T	T	102866832	C	T	102866832	3	4	6	1	0	0	0	0	1	0	0	0	7814	797	28	3	31	3	INVS	9	102866832	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	6815103	102866832	38346599	197	1670											
PTPN3	5774	genome.wustl.edu	37	chr9	112182864	112182864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctttcggatttcgtgccGgagccgaggacttcgcctgg	4	11	15	11	5	0	0	0	0	0	0	3	4	0	3	3	5	2	1	3	5	0	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:112182864G>A	ENST00000374541.2	-	14	1257	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	PTPN3_ENST00000446349.1_Missense_Mutation_p.R209W|PTPN3_ENST00000394827.3_5'Flank|PTPN3_ENST00000412145.1_Missense_Mutation_p.R254W|PTPN3_ENST00000262539.3_Missense_Mutation_p.R231W	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	385					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.R385W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATTTCGTGCCGGAGCCGAGGA	0.458																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											110	95	100					9																	112182864		2203	4300	6503	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1153C>T	9.37:g.112182864G>A	ENSP00000363667:p.Arg385Trp		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R385W	ENST00000374541.2	37	c.1153	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684590	0.88639	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.71222	0.97;-0.55;0.97;-0.49	5.85	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.982	T	0.81404	-0.0948	10	0.87932	D	0	.	13.8707	0.63617	0.0:0.0:0.7225:0.2774	.	231;340;385	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	W	385;254;209;385;231	ENSP00000416654:R254W;ENSP00000395384:R209W;ENSP00000363667:R385W;ENSP00000262539:R231W	ENSP00000262539:R231W	R	-	1	2	PTPN3	111222685	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.599000	0.61076	1.431000	0.47355	0.655000	0.94253	CGG	PTPN3	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4	ENSG00000070159		0.458	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4		0	22	0	G			112182864	-1			no_errors	ENST00000374541	ensembl	human	known	74_37	missense	5.41	34	2	SNP	1.000	A	A	112182864	G	A	112182864	3	1	6	1	0	0	0	0	1	0	0	0	12834	1115	39	1	1640	1	PTPN3	9	112182864	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	9316032	112182864	29030567	198	1671											
ROD1	9991	genome.wustl.edu	37	chr9	114986446	114986446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccttcactgaacatccaGcttctatgaaaaggttcttc	12	12	6	11	0	3	2	1	2	2	0	5	2	4	2	2	1	3	2	2	1	5	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:114986446G>A	ENST00000374255.2	-	14	1640	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	PTBP3_ENST00000343327.2_Missense_Mutation_p.A403V|PTBP3_ENST00000374257.1_Missense_Mutation_p.A470V|PTBP3_ENST00000458258.1_Missense_Mutation_p.A504V|PTBP3_ENST00000334318.6_Missense_Mutation_p.A501V			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	498	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TGAACATCCAGCTTCTATGAA	0.363																																																	0													79	83	82					9																	114986446		2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1493C>T	9.37:g.114986446G>A	ENSP00000363373:p.Ala498Val		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.A504V	ENST00000374255.2	37	c.1511	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	G	10.64	1.405722	0.25378	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.8	5.8	0.92144	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.276251	0.37304	N	0.002143	T	0.09555	0.0235	L	0.37850	1.14	0.37024	D	0.89637	B;B;B;B;B;B	0.23249	0.019;0.01;0.001;0.082;0.019;0.016	B;B;B;B;B;B	0.29440	0.102;0.022;0.027;0.023;0.016;0.009	T	0.29058	-1.0024	10	0.20046	T	0.44	-6.2382	16.3184	0.82936	0.0:0.0:0.8673:0.1327	.	470;470;403;501;498;504	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	V	470;501;504;498;403	ENSP00000363375:A470V;ENSP00000334499:A501V;ENSP00000414921:A504V;ENSP00000363373:A498V;ENSP00000340705:A403V	ENSP00000334499:A501V	A	-	2	0	ROD1	114026267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.315000	0.51951	2.737000	0.93849	0.563000	0.77884	GCT	PTBP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000119314		0.363	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1		0	62	0	G			114986446	-1			no_errors	ENST00000458258	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.997	A	A	114986446	G	A	114986446	3	1	6	1	0	0	0	0	1	0	0	0	13564	971	34	3	173	3	ROD1	9	114986446	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2803582	114986446	26226985	199	1672											
TRIM32	22954	genome.wustl.edu	37	chr9	119460513	119460513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttatgggggagctgcaGcggcggaaggcagccttgga	9	6	18	8	2	0	0	0	0	0	0	0	4	0	3	1	6	5	3	1	6	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:119460513G>A	ENST00000450136.1	+	2	653	c.492G>A	c.(490-492)caG>caA	p.Q164Q	ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.Q164Q|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	164					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GGGAGCTGCAGCGGCGGAAGG	0.577																																					Esophageal Squamous(92;212 1916 19711 26951)												0													47	54	51					9																	119460513		2203	4300	6503	SO:0001819	synonymous_variant	0			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.492G>A	9.37:g.119460513G>A			Q9NQP8	Silent	SNP	pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q164	ENST00000450136.1	37	c.492	CCDS6817.1	9																																																																																			TRIM32	-	NULL	ENSG00000119401		0.577	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM32	HGNC	protein_coding	OTTHUMT00000055466.2	-	0	20	0	G	NM_012210		119460513	1	tier1	-	no_errors	ENST00000373983	ensembl	human	known	74_37	silent	17.86	23	5	SNP	1.000	A	A	119460513	G	A	119460513	2	1	6	1	0	0	0	0	0	0	0	1	16554	962	34	3		3	TRIM32	9	119460513	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	4474067	119460513	21752918	200	1673											
DBC1	1620	genome.wustl.edu	37	chr9	122004356	122004356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgatatctggatctcaTgaagcctcctcatggtacca	10	12	8	11	0	3	2	2	2	2	0	5	3	4	3	3	2	2	2	3	2	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:122004356T>A	ENST00000265922.3	-	4	1009	c.548A>T	c.(547-549)cAt>cTt	p.H183L	BRINP1_ENST00000373964.2_Missense_Mutation_p.H183L	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	183	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CTGGATCTCATGAAGCCTCCT	0.502																																																	0													186	154	165					9																	122004356		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.548A>T	9.37:g.122004356T>A	ENSP00000265922:p.His183Leu		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.H183L	ENST00000265922.3	37	c.548	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	T	32	5.114168	0.94339	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.53857	2.26;0.6	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.64404	1.975	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.79108	0.986;0.992	T	0.73347	-0.4011	10	0.87932	D	0	-17.0859	16.152	0.81629	0.0:0.0:0.0:1.0	.	183;183	O60477-2;O60477	.;DBC1_HUMAN	L	183	ENSP00000265922:H183L;ENSP00000363075:H183L	ENSP00000265922:H183L	H	-	2	0	DBC1	121044177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.279000	0.76181	0.459000	0.35465	CAT	BRINP1	-	smart_MACPF	ENSG00000078725		0.502	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	61	0	T	NM_014618		122004356	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	A	A	122004356	T	A	122004356	3	1	6	1	0	0	0	0	1	0	0	0	4256	1464	51	5	1757	5	DBC1	9	122004356	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	2543843	122004356	19209075	201	1674											
RABEPK	10244	genome.wustl.edu	37	chr9	127982852	127982852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accacgccagaagtgaccagCcccccaccatccccaagaac	13	2	6	20	1	0	3	0	1	0	2	1	3	1	3	9	0	2	0	9	0	3	0	rs546948946	byFrequency	TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:127982852C>T	ENST00000373538.3	+	5	709	c.399C>T	c.(397-399)agC>agT	p.S133S	RABEPK_ENST00000373544.1_3'UTR|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Silent_p.S82S|RABEPK_ENST00000394125.4_Silent_p.S133S	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	133					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGTGACCAGCCCCCCACCAT	0.572																																																	0													118	106	110					9																	127982852		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.399C>T	9.37:g.127982852C>T			A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.S133	ENST00000373538.3	37	c.399	CCDS6862.1	9																																																																																			RABEPK	-	NULL	ENSG00000136933		0.572	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	-	0	54	0	C	NM_005833		127982852	1	tier1	-	no_errors	ENST00000373538	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.005	T	T	127982852	C	T	127982852	2	4	6	1	0	0	0	0	0	0	0	1	13008	738	26	3		3	RABEPK	9	127982852	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5978496	127982852	13230579	202	1675											
ASB6	140459	genome.wustl.edu	37	chr9	132400502	132400502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggactccaggaggaagCgcaggagagggaagtgcagt	11	4	17	9	2	0	1	0	0	0	1	2	6	2	5	2	5	2	2	2	5	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:132400502C>T	ENST00000277458.4	-	6	998	c.833G>A	c.(832-834)cGc>cAc	p.R278H	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.R199H|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	278					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAGGAGGAAGCGCAGGAGAGG	0.622																																																	0													53	50	51					9																	132400502		2203	4300	6503	SO:0001583	missense	0				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.833G>A	9.37:g.132400502C>T	ENSP00000277458:p.Arg278His		Q5SZB7|Q9BV15	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.R278H	ENST00000277458.4	37	c.833	CCDS6924.1	9	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410311	0.62399	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.55760	0.5;0.5	4.65	3.73	0.42828	Ankyrin repeat-containing domain (2);	0.239981	0.42821	D	0.000646	T	0.45256	0.1333	L	0.27053	0.805	0.38339	D	0.944027	P;D;P	0.52996	0.923;0.957;0.824	B;P;B	0.46339	0.333;0.513;0.333	T	0.55528	-0.8127	10	0.72032	D	0.01	-23.9582	13.7927	0.63152	0.0:0.845:0.155:0.0	.	199;278;278	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	H	278;199	ENSP00000277458:R278H;ENSP00000416172:R199H	ENSP00000277458:R278H	R	-	2	0	ASB6	131440323	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.046000	0.49846	1.137000	0.42214	0.462000	0.41574	CGC	ASB6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000148331		0.622	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB6	HGNC	protein_coding	OTTHUMT00000054594.1		0	44	0	C	NM_017873		132400502	-1			no_errors	ENST00000277458	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	132400502	C	T	132400502	3	4	6	1	0	0	0	0	1	0	0	0	1028	768	27	1	436	1	ASB6	9	132400502	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4417650	132400502	8812929	203	1676											
USP20	10868	genome.wustl.edu	37	chr9	132632775	132632775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttttgggggcctgtcGtcaccctggaagactgcctt	4	12	14	11	1	1	1	1	0	0	1	2	2	1	2	3	4	1	2	3	4	1	3	rs370182930		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:132632775G>T	ENST00000315480.4	+	15	1767	c.1609G>T	c.(1609-1611)Gtc>Ttc	p.V537F	USP20_ENST00000372429.3_Missense_Mutation_p.V537F|USP20_ENST00000358355.1_Missense_Mutation_p.V537F			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	537	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGGCCTGTCGTCACCCTGGA	0.607																																																	0													103	105	104					9																	132632775		2000	4168	6168	SO:0001583	missense	0			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1609G>T	9.37:g.132632775G>T	ENSP00000313811:p.Val537Phe		Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.V537F	ENST00000315480.4	37	c.1609	CCDS43892.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945307	0.73672	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.03212	4.01;4.01;4.01	5.36	3.54	0.40534	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.112207	0.64402	D	0.000010	T	0.10465	0.0256	M	0.70903	2.155	0.80722	D	1	P	0.43788	0.817	P	0.52267	0.694	T	0.00701	-1.1603	10	0.87932	D	0	.	8.8847	0.35396	0.2285:0.0:0.7715:0.0	.	537	Q9Y2K6	UBP20_HUMAN	F	537	ENSP00000361506:V537F;ENSP00000313811:V537F;ENSP00000351122:V537F	ENSP00000313811:V537F	V	+	1	0	USP20	131672596	1.000000	0.71417	0.830000	0.32933	0.940000	0.58332	5.455000	0.66658	0.755000	0.32990	-0.137000	0.14449	GTC	USP20	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000136878		0.607	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	-	0	59	0	G			132632775	1	tier1	-	no_errors	ENST00000315480	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.998	T	T	132632775	G	T	132632775	3	4	6	1	0	0	0	0	1	0	0	0	17101	1145	40	2	1659	2	USP20	9	132632775	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	232273	132632775	8580656	204	1677											
COL5A1	1289	genome.wustl.edu	37	chr9	137715273	137715273	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccccagggtccaactggCccgaagggtgaggcaggcca	8	5	14	14	1	1	1	0	1	1	0	3	2	2	1	5	5	1	1	5	5	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr9:137715273C>A	ENST00000371817.3	+	61	5070	c.4656C>A	c.(4654-4656)ggC>ggA	p.G1552G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1552	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCCAACTGGCCCGAAGGGTG	0.602																																																	0													105	122	116					9																	137715273		2203	4300	6503	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4656C>A	9.37:g.137715273C>A			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1552	ENST00000371817.3	37	c.4656	CCDS6982.1	9																																																																																			COL5A1	-	pfam_Collagen	ENSG00000130635		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	49	0	C	NM_000093		137715273	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	13.21	46	7	SNP	1.000	A	A	137715273	C	A	137715273	2	1	6	1	0	0	0	0	0	0	0	1	3703	726	26	3		3	COL5A1	9	137715273	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5082498	137715273	3498158	205	1678											
PFKP	5214	genome.wustl.edu	37	chr10	3154472	3154472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagatgcggttcgactccGagggaggtgaggtgctttgg	7	10	17	7	3	1	2	1	1	0	1	3	5	2	3	1	5	2	2	1	5	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:3154472G>A	ENST00000381125.4	+	11	1224	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	PFKP_ENST00000381075.2_Missense_Mutation_p.R375Q	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	383	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GTTCGACTCCGAGGGAGGTGA	0.502																																																	0													140	137	138					10																	3154472		2203	4300	6503	SO:0001583	missense	0			AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"Phosphofructokinase, platelet type"	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1148G>A	10.37:g.3154472G>A	ENSP00000370517:p.Arg383Gln		B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R383Q	ENST00000381125.4	37	c.1148	CCDS7059.1	10	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346772	0.82022	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000415005	T;T;T	0.81078	-1.45;-1.45;-1.45	5.39	5.39	0.77823	Phosphofructokinase domain (1);	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.983;0.983;0.974	D	0.94629	0.7820	10	0.87932	D	0	.	18.5094	0.90910	0.0:0.0:1.0:0.0	.	375;375;383	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	Q	383;372;375;167	ENSP00000370517:R383Q;ENSP00000370465:R375Q;ENSP00000408858:R167Q	ENSP00000370465:R375Q	R	+	2	0	PFKP	3144472	1.000000	0.71417	0.986000	0.45419	0.026000	0.11368	9.603000	0.98315	2.700000	0.92200	0.561000	0.74099	CGA	PFKP	-	superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000067057		0.502	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKP	HGNC	protein_coding	OTTHUMT00000046454.1		0	51	0	G	NM_002627		3154472	1			no_errors	ENST00000381125	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	3154472	G	A	3154472	3	1	6	1	0	0	0	0	1	0	0	0	11805	1058	37	1	1190	1	PFKP	10	3154472	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		3154472	132380275	206	1679											
PRKCQ	5588	genome.wustl.edu	37	chr10	6557012	6557012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctttgacgagcacagcaCagtaagggttaacagcctcg	12	8	10	11	2	1	1	0	1	1	0	2	2	1	1	1	1	4	4	1	1	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:6557012C>T	ENST00000263125.5	-	2	185	c.86G>A	c.(85-87)tGt>tAt	p.C29Y	PRKCQ_ENST00000397176.2_Missense_Mutation_p.C29Y|PRKCQ_ENST00000539722.1_De_novo_Start_OutOfFrame	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	29	C2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GAGCACAGCACAGTAAGGGTT	0.522																																					Ovarian(50;572 1126 10530 25349 30594)												0													98	95	96					10																	6557012		2203	4300	6503	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.86G>A	10.37:g.6557012C>T	ENSP00000263125:p.Cys29Tyr		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C29Y	ENST00000263125.5	37	c.86	CCDS7079.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455379	0.84209	.	.	ENSG00000065675	ENST00000263125;ENST00000397176	T;T	0.68765	-0.35;-0.31	5.2	5.2	0.72013	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.85583	0.1241	10	0.87932	D	0	.	19.1283	0.93394	0.0:1.0:0.0:0.0	.	29;29	Q04759-2;Q04759	.;KPCT_HUMAN	Y	29	ENSP00000263125:C29Y;ENSP00000380361:C29Y	ENSP00000263125:C29Y	C	-	2	0	PRKCQ	6597018	1.000000	0.71417	0.988000	0.46212	0.833000	0.47200	6.906000	0.75719	2.584000	0.87258	0.563000	0.77884	TGT	PRKCQ	-	superfamily_C2_dom,pirsf_Prot_kin_PKC_delta	ENSG00000065675		0.522	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1	-	0	51	0	C	NM_006257		6557012	-1	tier1	-	no_errors	ENST00000263125	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	T	T	6557012	C	T	6557012	3	4	6	1	0	0	0	0	1	0	0	0	12557	478	17	3	2102	3	PRKCQ	10	6557012	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3402540	6557012	128977735	207	1680											
ATP5C1	509	genome.wustl.edu	37	chr10	7841141	7841142	+	Frame_Shift_Del	DEL	AG	AG	-																															ttggaattggtgacaaaatcAgaggcatactttataggtaa																										TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:7841141_7841142delAG	ENST00000356708.7	+	4	491_492	c.412_413delAG	c.(412-414)agafs	p.R138fs	ATP5C1_ENST00000335698.4_Frame_Shift_Del_p.R138fs|ATP5C1_ENST00000541227.1_Frame_Shift_Del_p.R91fs|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	138					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGACAAAATCAGAGGCATACTT	0.332																																					Melanoma(143;1012 1820 16249 30920 33158)												0																																										SO:0001589	frameshift_variant	0			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.412_413delAG	10.37:g.7841143_7841144delAG	ENSP00000349142:p.Arg138fs		A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Frame_Shift_Del	DEL	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu	p.G139fs	ENST00000356708.7	37	c.412_413	CCDS31142.1	10																																																																																			ATP5C1	-	pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu	ENSG00000165629		0.332	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP5C1	HGNC	protein_coding	OTTHUMT00000046708.1		0	71	0	AG	NM_005174		7841142	1	tier1		no_errors	ENST00000356708	ensembl	human	known	74_37	frame_shift_del	17.11	63	13	DEL	1.000:1.000	-	-	7841142	AG	-	7841141	7	5	6	1	0	1	0	1	0	0	0	0	1150	180	7	0	426	0	ATP5C1	10	7841141	Frame_Shift_Del	DEL	AG	TCGA-2H-A9GK-01A-11D-A37C-09	1284129	7841141	127693606	208	1681											
CUBN	8029	genome.wustl.edu	37	chr10	16960677	16960677	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgttgtcagatcgaaatCtcaaatacataacctctcct	12	12	6	11	1	3	1	2	0	2	1	6	2	3	1	2	1	2	2	2	1	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:16960677C>G	ENST00000377833.4	-	45	7009	c.6944G>C	c.(6943-6945)aGa>aCa	p.R2315T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2315	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGATCGAAATCTCAAATACAT	0.413																																																	0													71	63	66					10																	16960677		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6944G>C	10.37:g.16960677C>G	ENSP00000367064:p.Arg2315Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R2315T	ENST00000377833.4	37	c.6944	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068547	0.76301	.	.	ENSG00000107611	ENST00000377833	T	0.34667	1.35	5.6	4.69	0.59074	CUB (5);	0.139606	0.32244	N	0.006376	T	0.53481	0.1799	L	0.55017	1.72	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.53158	-0.8478	10	0.48119	T	0.1	.	13.5873	0.61940	0.0:0.9245:0.0:0.0755	.	2315	O60494	CUBN_HUMAN	T	2315	ENSP00000367064:R2315T	ENSP00000367064:R2315T	R	-	2	0	CUBN	17000683	1.000000	0.71417	0.975000	0.42487	0.851000	0.48451	4.382000	0.59594	1.330000	0.45394	0.650000	0.86243	AGA	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	43	0	C	NM_001081		16960677	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	14.71	58	10	SNP	1.000	G	G	16960677	C	G	16960677	3	3	6	1	0	0	0	0	1	0	0	0	4060	913	32	5	4019	5	CUBN	10	16960677	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	9119536	16960677	118574070	209	1682											
BAMBI	25805	genome.wustl.edu	37	chr10	28971215	28971215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccggtcagtgggcacgAgaactgctgtctgacctgtg	6	9	16	10	2	2	2	1	1	1	1	2	3	2	2	2	3	3	2	2	3	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:28971215A>G	ENST00000375533.3	+	3	1224	c.668A>G	c.(667-669)gAg>gGg	p.E223G		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	223					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGTGGGCACGAGAACTGCTGT	0.517																																																	0													106	98	100					10																	28971215		2203	4300	6503	SO:0001583	missense	0			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.668A>G	10.37:g.28971215A>G	ENSP00000364683:p.Glu223Gly			Missense_Mutation	SNP	pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib	p.E223G	ENST00000375533.3	37	c.668	CCDS7162.1	10	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532801	0.85812	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	5.92	5.92	0.95590	.	0.043447	0.85682	D	0.000000	T	0.75199	0.3817	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.77321	-0.2631	9	0.87932	D	0	.	16.3662	0.83325	1.0:0.0:0.0:0.0	.	223	Q13145	BAMBI_HUMAN	G	223;210	.	ENSP00000364683:E223G	E	+	2	0	BAMBI	29011221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.901000	0.92560	2.274000	0.75844	0.533000	0.62120	GAG	BAMBI	-	pirsf_BMP/activin_membr-bound_inhib	ENSG00000095739		0.517	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAMBI	HGNC	protein_coding	OTTHUMT00000047374.1	-	0	52	0	A	NM_012342		28971215	1	tier1	-	no_errors	ENST00000375533	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	G	G	28971215	A	G	28971215	3	3	6	1	0	0	0	0	1	0	0	0	1307	304	11	4	678	4	BAMBI	10	28971215	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	12010538	28971215	106563532	210	1683											
ARHGAP19	84986	genome.wustl.edu	37	chr10	99006069	99006069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccaaatagtgcaatctcGcacactcccgaatgtaagca	14	8	6	13	2	1	0	0	0	1	0	4	1	3	0	2	0	2	4	2	0	5	2	rs372891158		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:99006069G>A	ENST00000358531.4	-	7	981	c.953C>T	c.(952-954)gCg>gTg	p.A318V	ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.A289V|ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.A309V|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.A318V|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.A318V|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.A309V	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	318					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GTGCAATCTCGCACACTCCCG	0.433																																																	0								G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	76	73	74		866,953	5.7	1	10		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARHGAP19	NM_001204300.1,NM_032900.5	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	289/466,318/495	99006069	1,13005	2203	4300	6503	SO:0001583	missense	0			AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"Rho GTPase activating proteins"	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.953C>T	10.37:g.99006069G>A	ENSP00000351333:p.Ala318Val		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A318V	ENST00000358531.4	37	c.953	CCDS7454.2	10	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196646	0.38806	0.0	1.16E-4	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.11604	3.18;3.2;3.21;3.2;3.21;2.76	5.66	5.66	0.87406	.	0.000000	0.85682	U	0.000000	T	0.16471	0.0396	N	0.19112	0.55	0.51767	D	0.999934	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.65233	0.933;0.843;0.925	T	0.01961	-1.1239	10	0.02654	T	1	-7.3623	19.7515	0.96270	0.0:0.0:1.0:0.0	.	289;318;309	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	V	318;318;309;318;309;137;289	ENSP00000414774:A318V;ENSP00000324468:A318V;ENSP00000347526:A309V;ENSP00000351333:A318V;ENSP00000360066:A309V;ENSP00000351058:A289V	ENSP00000324468:A318V	A	-	2	0	ARHGAP19	98996059	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.333000	0.72939	2.650000	0.89964	0.650000	0.86243	GCG	ARHGAP19-SLIT1	-	NULL	ENSG00000269891		0.433	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP19-SLIT1	HGNC	protein_coding	OTTHUMT00000049647.2	-	0	23	0	G	NM_032900		99006069	-1	tier1	-	no_errors	ENST00000453547	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	A	A	99006069	G	A	99006069	3	1	6	1	0	0	0	0	1	0	0	0	869	1087	38	1	555	1	ARHGAP19	10	99006069	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	70034854	99006069	36528678	211	1684											
CRTAC1	55118	genome.wustl.edu	37	chr10	99677288	99677288	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccccagcctcagcagcCacatctctgagcgccagaat	10	6	8	17	1	2	3	1	2	1	1	3	3	2	3	5	0	4	1	5	0	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:99677288C>A	ENST00000370597.3	-	5	1039	c.684G>T	c.(682-684)gtG>gtT	p.V228V	CRTAC1_ENST00000370591.2_Silent_p.V228V|CRTAC1_ENST00000298819.4_Silent_p.V228V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	228						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCTCAGCAGCCACATCTCTGA	0.597																																																	0													44	40	42					10																	99677288		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.684G>T	10.37:g.99677288C>A			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.V228	ENST00000370597.3	37	c.684	CCDS31266.1	10																																																																																			CRTAC1	-	NULL	ENSG00000095713		0.597	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	-	0	45	0	C	NM_018058		99677288	-1	tier1	-	no_errors	ENST00000370597	ensembl	human	known	74_37	silent	15.38	44	8	SNP	1.000	A	A	99677288	C	A	99677288	2	1	6	1	0	0	0	0	0	0	0	1	3903	581	21	3		3	CRTAC1	10	99677288	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	671219	99677288	35857459	212	1685											
PDZD7	79955	genome.wustl.edu	37	chr10	102778884	102778884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggtccgacggcagggagCccgagctgtagggggcgctg	5	5	20	11	5	0	0	0	0	0	0	1	3	1	1	2	5	3	4	2	5	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:102778884C>T	ENST00000370215.3	-	8	1244	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	340	Ser-rich.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGCAGGGAGCCCGAGCTGTA	0.721											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													4	5	5					10																	102778884		2059	4140	6199	SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1019G>A	10.37:g.102778884C>T	ENSP00000359234:p.Gly340Asp	1369	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G340D	ENST00000370215.3	37	c.1019	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	C	5.972	0.363243	0.11296	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.11495	2.77	5.21	4.32	0.51571	.	1.153170	0.06133	N	0.670954	T	0.07954	0.0199	N	0.19112	0.55	0.35462	D	0.796587	P;B	0.38922	0.651;0.006	B;B	0.36030	0.216;0.013	T	0.21759	-1.0236	10	0.11485	T	0.65	.	10.1507	0.42791	0.0:0.7453:0.1751:0.0795	.	340;340	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	D	340	ENSP00000359234:G340D	ENSP00000359234:G340D	G	-	2	0	PDZD7	102768874	0.875000	0.30112	0.958000	0.39756	0.034000	0.12701	1.711000	0.37930	1.207000	0.43291	-0.224000	0.12420	GGC	PDZD7	-	NULL	ENSG00000186862		0.721	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1		0	18	0	C	NM_024895		102778884	-1			no_errors	ENST00000370215	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.978	T	T	102778884	C	T	102778884	3	4	6	1	0	0	0	0	1	0	0	0	11743	739	26	3	546	3	PDZD7	10	102778884	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3101596	102778884	32755863	213	1686											
ATRNL1	26033	genome.wustl.edu	37	chr10	117059709	117059709	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtggcaggcttaaaagctAatccttgtacatctatggca	12	11	9	9	0	1	0	0	0	1	0	2	0	2	0	1	3	2	5	1	3	5	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:117059709A>T	ENST00000355044.3	+	16	2707	c.2581A>T	c.(2581-2583)Aat>Tat	p.N861Y	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'Flank	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	861	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CTTAAAAGCTAATCCTTGTAC	0.428																																																	0													81	79	80					10																	117059709		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2581A>T	10.37:g.117059709A>T	ENSP00000347152:p.Asn861Tyr		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.N861Y	ENST00000355044.3	37	c.2581	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811812	0.32053	.	.	ENSG00000107518	ENST00000355044	T	0.18810	2.19	5.45	5.45	0.79879	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	L	0.32530	0.975	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	T	0.01273	-1.1399	10	0.30078	T	0.28	-14.9003	15.8142	0.78586	1.0:0.0:0.0:0.0	.	861	Q5VV63	ATRN1_HUMAN	Y	861	ENSP00000347152:N861Y	ENSP00000347152:N861Y	N	+	1	0	ATRNL1	117049699	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.203000	0.77864	2.197000	0.70478	0.477000	0.44152	AAT	ATRNL1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000107518		0.428	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	54	0	A	XM_049349		117059709	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	20.83	38	10	SNP	1.000	T	T	117059709	A	T	117059709	3	4	6	1	0	0	0	0	1	0	0	0	1208	362	13	5	2643	5	ATRNL1	10	117059709	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	14280825	117059709	18475038	214	1687											
ATRNL1	26033	genome.wustl.edu	37	chr10	117075097	117075097	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtggctggtgcaatgAtcctagtaatacaggaagag	12	10	14	5	0	0	2	0	1	0	1	1	4	1	4	1	4	2	3	1	4	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:117075097A>C	ENST00000355044.3	+	18	3014	c.2888A>C	c.(2887-2889)gAt>gCt	p.D963A	ATRNL1_ENST00000303745.7_5'UTR|ATRNL1_ENST00000423111.2_Missense_Mutation_p.D60A	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	963	PSI 5.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGGTGCAATGATCCTAGTAAT	0.443																																																	0													130	113	119					10																	117075097		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2888A>C	10.37:g.117075097A>C	ENSP00000347152:p.Asp963Ala		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.D963A	ENST00000355044.3	37	c.2888	CCDS7592.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.3|24.3	4.511192|4.511192	0.85389|0.85389	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;D|.	0.85258|.	2.21;-1.96|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77758|.	0.4178|.	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|.	0.79918|.	-0.1600|.	10|.	0.87932|.	D|.	0|.	-25.956|-25.956	15.3184|15.3184	0.74102|0.74102	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	60;963|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	A|C	963;60|92	ENSP00000347152:D963A;ENSP00000409624:D60A|.	ENSP00000347152:D963A|.	D|X	+|+	2|3	0|0	ATRNL1|ATRNL1	117065087|117065087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.210000|9.210000	0.95106|0.95106	2.031000|2.031000	0.59945|0.59945	0.374000|0.374000	0.22700|0.22700	GAT|TGA	ATRNL1	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000107518		0.443	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	39	0	A	XM_049349		117075097	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	10.00	53	6	SNP	1.000	C	C	117075097	A	C	117075097	3	2	6	1	0	0	0	0	1	0	0	0	1208	333	12	4	2958	4	ATRNL1	10	117075097	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	15388	117075097	18459650	215	1688											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118236283	118236283	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgaagattctcagaataAgttgggagcagaaatggtga	14	11	13	3	0	1	5	1	2	1	3	2	6	1	6	0	2	1	3	0	2	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:118236283A>C	ENST00000369230.3	+	11	1438	c.1292A>C	c.(1291-1293)aAg>aCg	p.K431T		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	431	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCTCAGAATAAGTTGGGAGCA	0.303																																																	0													95	99	97					10																	118236283		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1292A>C	10.37:g.118236283A>C	ENSP00000358232:p.Lys431Thr			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.K431T	ENST00000369230.3	37	c.1292	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356734	0.24598	.	.	ENSG00000203837	ENST00000369230	T	0.65549	-0.16	4.13	1.42	0.22433	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.581864	0.14711	N	0.302929	T	0.47192	0.1432	L	0.33137	0.985	0.21064	N	0.999796	P	0.37370	0.592	B	0.37091	0.241	T	0.28267	-1.0049	10	0.33141	T	0.24	.	8.7727	0.34742	0.6344:0.3656:0.0:0.0	.	431	Q17RR3	LIPR3_HUMAN	T	431	ENSP00000358232:K431T	ENSP00000358232:K431T	K	+	2	0	PNLIPRP3	118226273	0.572000	0.26668	0.480000	0.27341	0.476000	0.33039	0.250000	0.18235	0.670000	0.31165	0.533000	0.62120	AAG	PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.303	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0	68	0	A	XM_058404		118236283	1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	30.43	48	21	SNP	0.620	C	C	118236283	A	C	118236283	3	2	6	1	0	0	0	0	1	0	0	0	12191	72	3	4	1334	4	PNLIPRP3	10	118236283	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1161186	118236283	17298464	216	1689											
FRG2B	441581	genome.wustl.edu	37	chr10	135439803	135439803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtttggattgggctcCgatcctgctgcaagagaagg	7	12	13	9	1	0	1	0	0	0	1	3	4	3	2	3	3	2	4	3	3	2	3	rs202189720		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr10:135439803C>T	ENST00000425520.1	-	2	235	c.183G>A	c.(181-183)tcG>tcA	p.S61S	FRG2B_ENST00000443774.1_Silent_p.S62S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	61						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GATTGGGCTCCGATCCTGCTG	0.488																																																	0													1	1	1					10																	135439803		23	64	87	SO:0001819	synonymous_variant	0			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.183G>A	10.37:g.135439803C>T			Q5VSQ1	Silent	SNP	NULL	p.S61	ENST00000425520.1	37	c.183	CCDS44502.1	10																																																																																			FRG2B	-	NULL	ENSG00000225899		0.488	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1	-	0	15	0	C	NM_001080998		135439803	-1	tier1	rs202189720	no_errors	ENST00000425520	ensembl	human	known	74_37	silent	30.77	9	4	SNP	0.213	T	T	135439803	C	T	135439803	2	4	6	1	0	0	0	0	0	0	0	1	6071	639	23	1		1	FRG2B	10	135439803	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	17203520	135439803	94944	217	1690											
AP2A2	161	genome.wustl.edu	37	chr11	1009801	1009801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgctgcgcttggagcCgaacctgcaagcccaggtca	8	7	12	14	2	1	0	1	0	0	0	1	2	1	1	4	2	7	3	4	2	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:1009801C>A	ENST00000448903.2	+	21	2867	c.2726C>A	c.(2725-2727)cCg>cAg	p.P909Q	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.P910Q	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	909					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGCTTGGAGCCGAACCTGCAA	0.498																																																	0													28	30	29					11																	1009801		1746	3738	5484	SO:0001583	missense	0			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.2726C>A	11.37:g.1009801C>A	ENSP00000413234:p.Pro909Gln		O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.P910Q	ENST00000448903.2	37	c.2729	CCDS44512.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325801	0.81580	.	.	ENSG00000183020	ENST00000417081;ENST00000448903;ENST00000332231;ENST00000529125;ENST00000452310	T;T	0.19394	2.15;2.15	3.99	3.99	0.46301	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin alpha-adaptin/coatomer adaptor, appendage, C-terminal subdomain (1);Clathrin adaptor, alpha-adaptin, appendage, C-terminal subdomain (1);	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68758	-0.5324	10	0.87932	D	0	-31.0722	17.3624	0.87355	0.0:1.0:0.0:0.0	.	909	O94973	AP2A2_HUMAN	Q	323;909;910;646;649	ENSP00000413234:P909Q;ENSP00000327694:P910Q	ENSP00000327694:P910Q	P	+	2	0	AP2A2	999801	1.000000	0.71417	0.958000	0.39756	0.949000	0.60115	7.230000	0.78097	2.522000	0.85027	0.579000	0.79373	CCG	AP2A2	-	pfam_Clathrin_a-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP2_complex_asu	ENSG00000183020		0.498	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2	-	0	34	0	C	NM_012305		1009801	1	tier1	-	no_errors	ENST00000332231	ensembl	human	known	74_37	missense	8.89	40	4	SNP	1.000	A	A	1009801	C	A	1009801	3	1	6	1	0	0	0	0	1	0	0	0	740	652	23	2	2808	2	AP2A2	11	1009801	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09		1009801	133996715	218	1691											
OR51F2	119694	genome.wustl.edu	37	chr11	4842644	4842644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatccctgtcttctcagtGcttccctatgtcggtcctca	6	14	6	15	1	3	0	2	0	2	0	8	0	6	0	3	1	2	1	3	1	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:4842644G>C	ENST00000322110.5	+	1	94	c.29G>C	c.(28-30)tGc>tCc	p.C10S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTCTCAGTGCTTCCCTATG	0.433																																																	0													265	250	255					11																	4842644		2201	4298	6499	SO:0001583	missense	0			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.29G>C	11.37:g.4842644G>C	ENSP00000323952:p.Cys10Ser		Q6IFI1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C10S	ENST00000322110.5	37	c.29	CCDS31361.1	11	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.942215	0.00052	.	.	ENSG00000176925	ENST00000322110	T	0.00642	6.02	4.69	1.63	0.23807	.	.	.	.	.	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42548	-0.9445	9	0.07030	T	0.85	.	2.9716	0.05925	0.2999:0.3404:0.2753:0.0844	.	10	Q8NH61	O51F2_HUMAN	S	10	ENSP00000323952:C10S	ENSP00000323952:C10S	C	+	2	0	OR51F2	4799220	0.000000	0.05858	0.011000	0.14972	0.054000	0.15201	-0.349000	0.07731	0.006000	0.14734	-0.998000	0.02512	TGC	OR51F2	-	NULL	ENSG00000176925		0.433	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	-	0	38	0	G	NM_001004753		4842644	1	tier1	-	no_errors	ENST00000322110	ensembl	human	known	74_37	missense	21.31	48	13	SNP	0.019	C	C	4842644	G	C	4842644	3	2	6	1	0	0	0	0	1	0	0	0	11136	1319	46	5	31	5	OR51F2	11	4842644	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3832843	4842644	130163872	219	1692											
OR52H1	390067	genome.wustl.edu	37	chr11	5566396	5566396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccatcagaatggctgAatccaggacaaagttatagt	14	9	10	8	0	1	2	1	1	0	1	2	3	2	3	2	3	0	2	2	3	5	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:5566396A>G	ENST00000322653.4	-	1	383	c.358T>C	c.(358-360)Tca>Cca	p.S120P	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATGGCTGAATCCAGGACA	0.453																																																	0													118	107	111					11																	5566396		2201	4297	6498	SO:0001583	missense	0			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.358T>C	11.37:g.5566396A>G	ENSP00000326259:p.Ser120Pro		B9EH26|Q6IF79	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S120P	ENST00000322653.4	37	c.358	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684643	0.47991	.	.	ENSG00000181616	ENST00000322653	T	0.00384	7.6	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000067	T	0.01029	0.0034	H	0.98951	4.38	0.37991	D	0.933918	B	0.27679	0.185	B	0.32342	0.144	T	0.02450	-1.1157	10	0.87932	D	0	.	14.5207	0.67849	1.0:0.0:0.0:0.0	.	120	Q8NGJ2	O52H1_HUMAN	P	120	ENSP00000326259:S120P	ENSP00000326259:S120P	S	-	1	0	OR52H1	5522972	0.041000	0.20044	1.000000	0.80357	0.955000	0.61496	0.533000	0.23082	2.112000	0.64535	0.528000	0.53228	TCA	OR52H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181616		0.453	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	-	0	23	0	A	NM_001005289		5566396	-1	tier1	-	no_errors	ENST00000322653	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.997	G	G	5566396	A	G	5566396	3	3	6	1	0	0	0	0	1	0	0	0	11158	246	9	4	607	4	OR52H1	11	5566396	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	723752	5566396	129440120	220	1693											
FAM160A2	84067	genome.wustl.edu	37	chr11	6245219	6245219	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctcactagcatttcaaatAgtttcagttgctcagcccgc	9	12	7	13	2	4	0	4	0	0	0	4	0	4	0	1	0	3	5	1	0	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:6245219A>T	ENST00000449352.2	-	3	661	c.398T>A	c.(397-399)cTa>cAa	p.L133Q	FAM160A2_ENST00000265978.4_Missense_Mutation_p.L133Q|FAM160A2_ENST00000524416.1_Missense_Mutation_p.L133Q			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	133					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATTTCAAATAGTTTCAGTTG	0.597																																																	0													47	44	45					11																	6245219		2201	4296	6497	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.398T>A	11.37:g.6245219A>T	ENSP00000416918:p.Leu133Gln		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.L133Q	ENST00000449352.2	37	c.398	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096987	0.76870	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.33654	1.4;1.4;1.4	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000005	T	0.56992	0.2023	M	0.62723	1.935	0.58432	D	0.999992	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.91635	0.986;0.986;0.999	T	0.60469	-0.7257	10	0.72032	D	0.01	-14.9996	14.1322	0.65263	1.0:0.0:0.0:0.0	.	133;133;133	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	Q	133;58;133;133	ENSP00000416918:L133Q;ENSP00000265978:L133Q;ENSP00000431773:L133Q	ENSP00000265978:L133Q	L	-	2	0	FAM160A2	6201795	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.104000	0.77024	2.135000	0.66039	0.533000	0.62120	CTA	FAM160A2	-	pfam_RetinoicA-induced_16-like	ENSG00000051009		0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1		0	11	0	A	NM_032127		6245219	-1			no_errors	ENST00000265978	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	6245219	A	T	6245219	3	4	6	1	0	0	0	0	1	0	0	0	5488	420	15	5	2602	5	FAM160A2	11	6245219	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	678823	6245219	128761297	221	1694											
TRIM3	10612	genome.wustl.edu	37	chr11	6478090	6478090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcattctcatgtggcCgctccgggaaggcctgtgcc	4	10	14	13	2	1	0	1	0	1	0	3	1	2	1	4	3	2	3	4	3	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:6478090C>T	ENST00000525074.1	-	6	1260	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	TRIM3_ENST00000536344.1_Missense_Mutation_p.R170Q|TRIM3_ENST00000359518.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000345851.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Intron	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	289					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGTGGCCGCTCCGGGAA	0.667																																					Melanoma(6;5 510 1540 25169 29084)												0													58	53	55					11																	6478090		2196	4282	6478	SO:0001583	missense	0			AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10064	protein-coding gene	gene with protein product	"ring finger protein 22", "brain expressed ring finger", "tripartite motif protein TRIM3"	605493	"tripartite motif-containing 3"	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.866G>A	11.37:g.6478090C>T	ENSP00000433102:p.Arg289Gln		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R289Q	ENST00000525074.1	37	c.866	CCDS7764.1	11	.	.	.	.	.	.	.	.	.	.	C	6.646	0.487775	0.12641	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344	T;T;T;D	0.82803	-0.53;-0.53;-0.53;-1.65	5.27	5.27	0.74061	.	0.306232	0.37219	N	0.002182	T	0.64461	0.2600	N	0.14661	0.345	0.29552	N	0.851297	B;B;B	0.13594	0.004;0.008;0.004	B;B;B	0.08055	0.002;0.003;0.002	T	0.53063	-0.8491	10	0.07813	T	0.8	-13.0167	8.2335	0.31612	0.0:0.8301:0.0:0.1699	.	170;170;289	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	Q	289;289;289;289;278;289;170	ENSP00000433102:R289Q;ENSP00000340797:R289Q;ENSP00000352508:R289Q;ENSP00000445460:R170Q	ENSP00000337094:R278Q	R	-	2	0	TRIM3	6434666	0.990000	0.36364	0.955000	0.39395	0.972000	0.66771	1.925000	0.40074	2.472000	0.83506	0.563000	0.77884	CGG	TRIM3	-	NULL	ENSG00000110171		0.667	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM3	HGNC	protein_coding	OTTHUMT00000384224.2	-	0	69	0	C	NM_006458		6478090	-1	tier1	-	no_errors	ENST00000345851	ensembl	human	known	74_37	missense	19.23	63	15	SNP	0.998	T	T	6478090	C	T	6478090	3	4	6	1	0	0	0	0	1	0	0	0	16552	652	23	1	1396	1	TRIM3	11	6478090	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	232871	6478090	128528426	222	1695											
DCHS1	8642	genome.wustl.edu	37	chr11	6647158	6647158	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggcctcaccgtgtttCagcccagatctcacggtcca	7	8	10	16	2	3	1	3	0	1	1	5	1	4	1	5	3	1	1	5	3	0	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:6647158C>A	ENST00000299441.3	-	17	7135	c.6724G>T	c.(6724-6726)Gaa>Taa	p.E2242*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2242	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCGTGTTTCAGCCCAGATC	0.592																																																	0													164	144	150					11																	6647158		2201	4296	6497	SO:0001587	stop_gained	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6724G>T	11.37:g.6647158C>A	ENSP00000299441:p.Glu2242*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E2242*	ENST00000299441.3	37	c.6724	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	48	14.700711	0.99806	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.9	4.9	0.64082	.	0.138039	0.32836	N	0.005592	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.0793	0.53662	0.0:0.7134:0.2866:0.0	.	.	.	.	X	2242	.	ENSP00000299441:E2242X	E	-	1	0	DCHS1	6603734	1.000000	0.71417	0.959000	0.39883	0.839000	0.47603	5.266000	0.65525	2.549000	0.85964	0.563000	0.77884	GAA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	-	0	42	0	C	NM_003737		6647158	-1	tier1	-	no_errors	ENST00000299441	ensembl	human	known	74_37	nonsense	16.33	41	8	SNP	0.985	A	A	6647158	C	A	6647158	4	1	6	1	0	0	0	0	0	1	0	0	4296	835	29	3	3192	3	DCHS1	11	6647158	Nonsense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	169068	6647158	128359358	223	1696											
DCHS1	8642	genome.wustl.edu	37	chr11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-																															gcacctggcaccccagccccCagcagcagcagcagcagcag																								rs370785084|rs372916982		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																																	1	Insertion - In frame(1)	prostate(1)								54,415,3471		8,0,38,73,269,1582						5.3	1		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del		O15098	In_Frame_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L33in_frame_del	ENST00000299441.3	37	c.99_97	CCDS7771.1	11																																																																																			DCHS1	-	NULL	ENSG00000166341		0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	51	0	CAG	NM_003737		6662748	-1	tier1		no_errors	ENST00000299441	ensembl	human	known	74_37	in_frame_del	9.84	55	6	DEL	1.000:1.000:1.000	-	-	6662748	CAG	-	6662746	7	5	6	1	0	1	0	1	0	0	0	0	4296	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-2H-A9GK-01A-11D-A37C-09	15588	6662746	128343770	224	1697											
ZNF215	7762	genome.wustl.edu	37	chr11	6953817	6953817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgcctgaagaagtcaGgacttgggtgaatttacaac	13	10	10	8	0	1	3	1	2	0	1	2	4	2	4	2	2	3	0	2	2	6	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:6953817G>T	ENST00000278319.5	+	3	902	c.314G>T	c.(313-315)aGg>aTg	p.R105M	ZNF215_ENST00000529903.1_Missense_Mutation_p.R105M|ZNF215_ENST00000414517.2_Missense_Mutation_p.R105M|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	105	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAAGAAGTCAGGACTTGGGTG	0.398																																																	0													62	65	64					11																	6953817		2201	4296	6497	SO:0001583	missense	0			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.314G>T	11.37:g.6953817G>T	ENSP00000278319:p.Arg105Met		Q96C84	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R105M	ENST00000278319.5	37	c.314	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066158	0.36470	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.05139	3.49;3.49;3.49	3.86	2.95	0.34219	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.44902	D	0.000408	T	0.20536	0.0494	M	0.79343	2.45	0.27049	N	0.963825	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.986;0.996;0.992	T	0.01375	-1.1371	10	0.54805	T	0.06	-20.8351	7.3563	0.26721	0.1177:0.0:0.8823:0.0	.	105;105;105	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	M	105	ENSP00000278319:R105M;ENSP00000393202:R105M;ENSP00000432306:R105M	ENSP00000278319:R105M	R	+	2	0	ZNF215	6910393	0.864000	0.29904	0.968000	0.41197	0.349000	0.29174	0.854000	0.27791	1.197000	0.43143	0.655000	0.94253	AGG	ZNF215	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000149054		0.398	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1		0	24	0	G			6953817	1			no_errors	ENST00000278319	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.981	T	T	6953817	G	T	6953817	3	4	6	1	0	0	0	0	1	0	0	0	17819	1000	35	3	316	3	ZNF215	11	6953817	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	291071	6953817	128052699	225	1698											
ZNF215	7762	genome.wustl.edu	37	chr11	6977060	6977060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgggacataaatttGccacaagaggctttcattcc	16	10	7	8	0	1	1	1	0	0	1	2	2	2	2	2	2	1	1	2	2	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:6977060G>T	ENST00000278319.5	+	7	1440	c.852G>T	c.(850-852)ttG>ttT	p.L284F	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.L284F|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	284					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACATAAATTTGCCACAAGAGG	0.368																																																	0													82	89	86					11																	6977060		2201	4294	6495	SO:0001583	missense	0			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.852G>T	11.37:g.6977060G>T	ENSP00000278319:p.Leu284Phe		Q96C84	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L284F	ENST00000278319.5	37	c.852	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900095	0.52227	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.07444	3.19;3.19	4.09	2.2	0.27929	.	0.000000	0.36519	N	0.002550	T	0.09862	0.0242	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.36432	-0.9748	10	0.40728	T	0.16	-9.4773	3.6332	0.08140	0.2118:0.0:0.5923:0.1958	.	284	Q9UL58	ZN215_HUMAN	F	284	ENSP00000278319:L284F;ENSP00000393202:L284F	ENSP00000278319:L284F	L	+	3	2	ZNF215	6933636	0.000000	0.05858	0.991000	0.47740	0.230000	0.25150	-0.867000	0.04241	0.491000	0.27793	0.655000	0.94253	TTG	ZNF215	-	NULL	ENSG00000149054		0.368	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1	-	0	44	0	G			6977060	1	tier1	-	no_errors	ENST00000278319	ensembl	human	known	74_37	missense	18.18	45	10	SNP	0.983	T	T	6977060	G	T	6977060	3	4	6	1	0	0	0	0	1	0	0	0	17819	1310	46	3	870	3	ZNF215	11	6977060	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	23243	6977060	128029456	226	1699											
GAS2	2620	genome.wustl.edu	37	chr11	22696495	22696495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatagccaatggctagccaGcagacatgaagctaatttgc	13	9	10	9	0	0	2	0	1	0	1	0	2	0	2	2	1	5	4	2	1	6	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:22696495G>A	ENST00000454584.2	+	2	385	c.80G>A	c.(79-81)aGc>aAc	p.S27N	GAS2_ENST00000433790.1_Missense_Mutation_p.S27N|GAS2_ENST00000278187.3_Missense_Mutation_p.S27N|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	27					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TGGCTAGCCAGCAGACATGAA	0.428																																																	0													85	84	85					11																	22696495		2203	4300	6503	SO:0001583	missense	0			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.80G>A	11.37:g.22696495G>A	ENSP00000401145:p.Ser27Asn		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S27N	ENST00000454584.2	37	c.80	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801467	0.50315	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.67	5.67	0.87782	Calponin homology domain (1);	0.042534	0.85682	D	0.000000	T	0.37598	0.1009	L	0.36672	1.1	0.42493	D	0.992903	P	0.36789	0.57	B	0.36567	0.228	T	0.14062	-1.0486	10	0.17832	T	0.49	-11.7018	13.6906	0.62544	0.0:0.0:0.8458:0.1542	.	27	O43903	GAS2_HUMAN	N	27	ENSP00000432584:S27N;ENSP00000401145:S27N;ENSP00000434478:S27N;ENSP00000278187:S27N;ENSP00000433182:S27N;ENSP00000435946:S27N;ENSP00000396708:S27N	ENSP00000278187:S27N	S	+	2	0	GAS2	22653071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.234000	0.78134	2.659000	0.90383	0.655000	0.94253	AGC	GAS2	-	superfamily_CH-domain	ENSG00000148935		0.428	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1		0	26	0	G	NM_177553		22696495	1			no_errors	ENST00000278187	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	22696495	G	A	22696495	3	1	6	1	0	0	0	0	1	0	0	0	6270	971	34	3	82	3	GAS2	11	22696495	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	15719435	22696495	112310021	227	1700											
KIAA0652	9776	genome.wustl.edu	37	chr11	46681022	46681022	+	Frame_Shift_Del	DEL	C	C	-																															taccacctctttttccacctCcccaccatcccaggtagggg																										TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:46681022delC	ENST00000434074.1	+	10	1465	c.776delC	c.(775-777)tccfs	p.S259fs	ATG13_ENST00000529655.1_Frame_Shift_Del_p.S259fs|ATG13_ENST00000530500.1_Frame_Shift_Del_p.S180fs|ATG13_ENST00000526508.1_Frame_Shift_Del_p.S259fs|ATG13_ENST00000312040.4_Frame_Shift_Del_p.S259fs|ATG13_ENST00000524625.1_Frame_Shift_Del_p.S259fs|ATG13_ENST00000528494.1_Frame_Shift_Del_p.S259fs|ATG13_ENST00000359513.4_Frame_Shift_Del_p.S259fs|ATG13_ENST00000451945.1_Frame_Shift_Del_p.S259fs	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	259					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTTTCCACCTCCCCACCATCC	0.443																																																	0													83	75	77					11																	46681022		2201	4299	6500	SO:0001589	frameshift_variant	0			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.776delC	11.37:g.46681022delC	ENSP00000400642:p.Ser259fs		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Frame_Shift_Del	DEL	pfam_Autophagy-rel_p13	p.P260fs	ENST00000434074.1	37	c.776	CCDS44582.1	11																																																																																			ATG13	-	NULL	ENSG00000175224		0.443	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2		0	40	0	C	NM_014741		46681022	1	tier1		no_errors	ENST00000312040	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000	-	-	46681022	C	-	46681022	7	5	6	1	0	1	0	1	0	0	0	0	8215	855	30	0	810	0	KIAA0652	11	46681022	Frame_Shift_Del	DEL	C	TCGA-2H-A9GK-01A-11D-A37C-09	23984527	46681022	88325494	228	1701											
OR4C3	256144	genome.wustl.edu	37	chr11	48346896	48346896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctcattttttgggaggtgTtgagatcattctgctcacag	8	15	11	7	0	4	1	3	1	1	1	4	3	4	2	0	2	2	3	0	2	0	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:48346896T>G	ENST00000319856.4	+	1	425	c.404T>G	c.(403-405)gTt>gGt	p.V135G		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTGGGAGGTGTTGAGATCATT	0.483																																																	0													259	243	249					11																	48346896		2201	4298	6499	SO:0001583	missense	0			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.404T>G	11.37:g.48346896T>G	ENSP00000321419:p.Val135Gly		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V135G	ENST00000319856.4	37	c.404	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959648	0.34565	.	.	ENSG00000176547	ENST00000319856	T	0.01185	5.21	5.78	-5.09	0.02920	GPCR, rhodopsin-like superfamily (1);	1.881030	0.02539	N	0.094430	T	0.01353	0.0044	L	0.31578	0.945	0.09310	N	1	B	0.19706	0.038	B	0.23150	0.044	T	0.48115	-0.9063	10	0.87932	D	0	.	9.7621	0.40539	0.0:0.264:0.0992:0.6368	.	108	Q8NH37	OR4C3_HUMAN	G	135	ENSP00000321419:V135G	ENSP00000321419:V135G	V	+	2	0	OR4C3	48303472	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	-0.977000	0.03782	-0.914000	0.03827	0.391000	0.25812	GTT	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176547		0.483	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	-	0	80	0	T	NM_001004702		48346896	1	tier1	-	no_errors	ENST00000319856	ensembl	human	known	74_37	missense	8.00	69	6	SNP	0.000	G	G	48346896	T	G	48346896	3	3	6	1	0	0	0	0	1	0	0	0	11089	1725	60	4	406	4	OR4C3	11	48346896	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1665874	48346896	86659620	229	1702											
OR4A16	81327	genome.wustl.edu	37	chr11	55110764	55110764	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacattatttgtcatgtttTtactcatatacattgtgaca	13	18	4	6	0	2	1	2	1	0	0	2	1	2	1	0	0	3	1	0	0	5	8			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:55110764T>G	ENST00000314721.2	+	1	138	c.88T>G	c.(88-90)Tta>Gta	p.L30V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGTCATGTTTTTACTCATATA	0.423																																																	0													99	92	94					11																	55110764		2201	4296	6497	SO:0001583	missense	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.88T>G	11.37:g.55110764T>G	ENSP00000325128:p.Leu30Val		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L30V	ENST00000314721.2	37	c.88	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	T	3.106	-0.183647	0.06340	.	.	ENSG00000181961	ENST00000314721	T	0.01902	4.57	2.41	0.0474	0.14280	.	.	.	.	.	T	0.11410	0.0278	M	0.92367	3.3	0.09310	N	1	D	0.57899	0.981	P	0.60949	0.881	T	0.05131	-1.0904	9	0.66056	D	0.02	.	5.4636	0.16630	0.0:0.3017:0.0:0.6982	.	30	Q8NH70	O4A16_HUMAN	V	30	ENSP00000325128:L30V	ENSP00000325128:L30V	L	+	1	2	OR4A16	54867340	0.000000	0.05858	0.371000	0.25978	0.016000	0.09150	0.170000	0.16663	0.183000	0.20059	0.155000	0.16302	TTA	OR4A16	-	prints_GPCR_Rhodpsn	ENSG00000181961		0.423	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	-	0	38	0	T	NM_001005274		55110764	1	tier1	-	no_errors	ENST00000314721	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.068	G	G	55110764	T	G	55110764	3	3	6	1	0	0	0	0	1	0	0	0	11080	1838	64	4	90	4	OR4A16	11	55110764	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	6763868	55110764	79895752	230	1703											
OR8I2	120586	genome.wustl.edu	37	chr11	55861094	55861094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgttcaaatgtacttttTtgttggattggtgtgttgtg	5	22	11	3	0	1	0	1	0	0	0	1	1	1	1	0	2	1	4	0	2	2	9			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:55861094T>C	ENST00000302124.2	+	1	342	c.311T>C	c.(310-312)tTt>tCt	p.F104S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATGTACTTTTTTGTTGGATTG	0.408																																																	0													138	128	132					11																	55861094		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.311T>C	11.37:g.55861094T>C	ENSP00000303864:p.Phe104Ser		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F104S	ENST00000302124.2	37	c.311	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580333	0.28180	.	.	ENSG00000172154	ENST00000302124	T	0.00406	7.55	4.5	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000856	T	0.00328	0.0010	M	0.64080	1.96	0.19775	N	0.999954	B	0.29432	0.244	B	0.22386	0.039	T	0.48269	-0.9050	10	0.62326	D	0.03	-12.8537	4.026	0.09687	0.1538:0.1763:0.0:0.6699	.	104	Q8N0Y5	OR8I2_HUMAN	S	104	ENSP00000303864:F104S	ENSP00000303864:F104S	F	+	2	0	OR8I2	55617670	0.320000	0.24616	0.911000	0.35937	0.258000	0.26162	1.520000	0.35899	0.703000	0.31848	0.362000	0.22060	TTT	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172154		0.408	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		-	0	27	0	T	NM_001003750		55861094	1	tier1	-	no_errors	ENST00000302124	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.094	C	C	55861094	T	C	55861094	3	2	6	1	0	0	0	0	1	0	0	0	11279	1841	64	4	313	4	OR8I2	11	55861094	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	750330	55861094	79145422	231	1704											
OR5M1	390168	genome.wustl.edu	37	chr11	56380609	56380609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagggctgcaaatggctaCatagcgatccaatgccattg	13	8	10	10	1	0	0	0	0	0	0	1	1	1	0	2	2	4	3	2	2	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:56380609C>A	ENST00000526538.1	-	1	369	c.370G>T	c.(370-372)Gta>Tta	p.V124L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CAAATGGCTACATAGCGATCC	0.468																																																	0													155	142	146					11																	56380609		1997	4179	6176	SO:0001583	missense	0			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.370G>T	11.37:g.56380609C>A	ENSP00000435416:p.Val124Leu		Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V124L	ENST00000526538.1	37	c.370	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231391	0.39399	.	.	ENSG00000255012	ENST00000526538	T	0.01406	4.93	3.71	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.250769	0.21539	N	0.072934	T	0.01523	0.0049	L	0.37466	1.105	0.27950	N	0.937171	P	0.40066	0.701	B	0.38921	0.285	T	0.44697	-0.9311	10	0.66056	D	0.02	-35.2183	7.6997	0.28615	0.1818:0.6413:0.1769:0.0	.	124	Q8NGP8	OR5M1_HUMAN	L	124	ENSP00000435416:V124L	ENSP00000435416:V124L	V	-	1	0	OR5M1	56137185	0.000000	0.05858	0.994000	0.49952	0.904000	0.53231	-1.058000	0.03482	1.949000	0.56562	0.280000	0.19369	GTA	OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000255012		0.468	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1		0	45	0	C	NM_001004740		56380609	-1			no_errors	ENST00000526538	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.795	A	A	56380609	C	A	56380609	3	1	6	1	0	0	0	0	1	0	0	0	11211	478	17	3	581	3	OR5M1	11	56380609	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	519515	56380609	78625907	232	1705											
MS4A14	84689	genome.wustl.edu	37	chr11	60170472	60170472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcagctacagacatcaaGacaagtactgccagatgcca	14	8	7	12	0	2	3	2	0	1	3	3	3	2	3	2	0	5	2	2	0	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:60170472G>C	ENST00000300187.6	+	4	683	c.406G>C	c.(406-408)Gac>Cac	p.D136H	MS4A14_ENST00000395005.2_Missense_Mutation_p.D119H|MS4A14_ENST00000531783.1_Missense_Mutation_p.D136H|MS4A14_ENST00000531787.1_Missense_Mutation_p.D24H|MS4A14_ENST00000395001.1_Missense_Mutation_p.D24H	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	136						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAGACATCAAGACAAGTACTG	0.398																																																	0													261	233	243					11																	60170472		2203	4300	6503	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.406G>C	11.37:g.60170472G>C	ENSP00000300187:p.Asp136His		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.D136H	ENST00000300187.6	37	c.406	CCDS31569.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.017|0.017	-1.496511|-1.496511	0.01001|0.01001	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783;ENST00000395001|ENST00000534688	T;T;T;T;T;T|.	0.29142|.	4.37;4.37;4.37;1.58;4.37;4.37|.	4.77|4.77	-1.8|-1.8	0.07907|0.07907	.|.	.|.	.|.	.|.	.|.	T|T	0.09158|0.09158	0.0226|0.0226	N|N	0.02315|0.02315	-0.6|-0.6	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.33548|0.33548	-0.9864|-0.9864	9|5	0.02654|.	T|.	1|.	-4.7941|-4.7941	5.2324|5.2324	0.15430|0.15430	0.0:0.3334:0.1641:0.5025|0.0:0.3334:0.1641:0.5025	.|.	119;136|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	H|N	24;136;119;119;136;24|94	ENSP00000437222:D24H;ENSP00000300187:D136H;ENSP00000378453:D119H;ENSP00000435764:D119H;ENSP00000433761:D136H;ENSP00000378449:D24H|.	ENSP00000300187:D136H|.	D|K	+|+	1|3	0|2	MS4A14|MS4A14	59927048|59927048	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.285000|-0.285000	0.08410|0.08410	-0.203000|-0.203000	0.10251|0.10251	-0.995000|-0.995000	0.02519|0.02519	GAC|AAG	MS4A14	-	pfam_CD20-like	ENSG00000166928		0.398	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	-	0	55	0	G			60170472	1	tier1	-	no_errors	ENST00000300187	ensembl	human	known	74_37	missense	15.73	75	14	SNP	0.000	C	C	60170472	G	C	60170472	3	2	6	1	0	0	0	0	1	0	0	0	9896	942	33	5	420	5	MS4A14	11	60170472	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3789863	60170472	74836044	233	1706											
VWCE	220001	genome.wustl.edu	37	chr11	61048557	61048557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaggcgggtggtcctgActccggctgggggccctgga	4	7	19	11	2	0	1	0	1	0	0	2	2	2	2	3	8	0	2	3	8	0	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:61048557A>G	ENST00000335613.5	-	8	1324	c.938T>C	c.(937-939)gTc>gCc	p.V313A		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	313						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGTGGTCCTGACTCCGGCTGG	0.682																																																	0													30	34	33					11																	61048557		2202	4298	6500	SO:0001583	missense	0			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.938T>C	11.37:g.61048557A>G	ENSP00000334186:p.Val313Ala		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.V313A	ENST00000335613.5	37	c.938	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	A	11.66	1.703499	0.30232	.	.	ENSG00000167992	ENST00000335613	T	0.68765	-0.35	5.51	-0.597	0.11653	.	0.949995	0.08722	N	0.903391	T	0.51584	0.1683	L	0.43923	1.385	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32025	-0.9922	10	0.20046	T	0.44	.	5.2032	0.15277	0.4497:0.1751:0.3753:0.0	.	313	Q96DN2	VWCE_HUMAN	A	313	ENSP00000334186:V313A	ENSP00000334186:V313A	V	-	2	0	VWCE	60805133	0.000000	0.05858	0.006000	0.13384	0.699000	0.40488	-0.019000	0.12546	0.086000	0.17137	0.459000	0.35465	GTC	VWCE	-	NULL	ENSG00000167992		0.682	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	-	0	67	0	A	NM_152718		61048557	-1	tier1	-	no_errors	ENST00000335613	ensembl	human	known	74_37	missense	23.75	61	19	SNP	0.000	G	G	61048557	A	G	61048557	3	3	6	1	0	0	0	0	1	0	0	0	17294	275	10	4	1981	4	VWCE	11	61048557	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	878085	61048557	73957959	234	1707											
SLC22A6	9356	genome.wustl.edu	37	chr11	62752130	62752130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctggaagcggccgacaccCcccacctgctgcaggaggtc	7	5	13	16	2	0	0	0	0	0	0	1	3	0	2	5	4	4	3	5	4	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:62752130C>T	ENST00000377871.3	-	1	299	c.33G>A	c.(31-33)ggG>ggA	p.G11G	SLC22A6_ENST00000360421.4_Silent_p.G11G|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Silent_p.G11G|SLC22A6_ENST00000458333.2_Silent_p.G11G	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	11					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCCGACACCCCCCACCTGCT	0.637																																																	0													27	31	29					11																	62752130		2201	4297	6498	SO:0001819	synonymous_variant	0			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.33G>A	11.37:g.62752130C>T			A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G11	ENST00000377871.3	37	c.33	CCDS31591.1	11																																																																																			SLC22A6	-	NULL	ENSG00000197901		0.637	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	-	0	85	0	C	NM_004790		62752130	-1	tier1	-	no_errors	ENST00000377871	ensembl	human	known	74_37	silent	23.29	56	17	SNP	1.000	T	T	62752130	C	T	62752130	2	4	6	1	0	0	0	0	0	0	0	1	14503	610	22	3		3	SLC22A6	11	62752130	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1703573	62752130	72254386	235	1708											
PELI3	246330	genome.wustl.edu	37	chr11	66241227	66241227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgagcggccaaatggcGgaccccagatggcctgatgg	9	4	17	11	3	0	2	0	1	0	1	0	5	0	4	4	6	2	0	4	6	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:66241227G>A	ENST00000320740.7	+	7	831	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Missense_Mutation_p.R224Q|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.R200Q|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	224					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCCAAATGGCGGACCCCAGAT	0.672																																																	0													54	55	55					11																	66241227		2200	4295	6495	SO:0001583	missense	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.671G>A	11.37:g.66241227G>A	ENSP00000322532:p.Arg224Gln		Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino_fam	p.R224Q	ENST00000320740.7	37	c.671	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637977	0.47153	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296;ENST00000528752	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	N	0.10782	0.045	0.51012	D	0.999904	B;B;P	0.36378	0.174;0.43;0.55	B;B;B	0.37422	0.038;0.107;0.249	T	0.06643	-1.0815	10	0.13853	T	0.58	-28.6583	9.4995	0.39008	0.0938:0.0:0.9062:0.0	.	200;224;224	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	Q	200;224;224;117;11	ENSP00000309848:R200Q;ENSP00000322532:R224Q;ENSP00000434677:R224Q;ENSP00000436722:R117Q;ENSP00000436161:R11Q	ENSP00000322532:R224Q	R	+	2	0	PELI3	65997803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.693000	0.54735	2.746000	0.94184	0.655000	0.94253	CGG	PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.672	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	-	0	75	0	G	NM_145065		66241227	1	tier1	-	no_errors	ENST00000320740	ensembl	human	known	74_37	missense	15.31	82	15	SNP	1.000	A	A	66241227	G	A	66241227	3	1	6	1	0	0	0	0	1	0	0	0	11762	1116	39	1	693	1	PELI3	11	66241227	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3489097	66241227	68765289	236	1709											
NOX4	50507	genome.wustl.edu	37	chr11	89133398	89133398	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacctgaccaggtcttgcTttaaaattttctttgaccat	9	16	5	11	0	3	2	1	2	2	0	3	2	3	2	3	1	1	1	3	1	2	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:89133398T>C	ENST00000263317.4	-	10	1234	c.996A>G	c.(994-996)aaA>aaG	p.K332K	NOX4_ENST00000375979.3_Intron|NOX4_ENST00000424319.1_Silent_p.K308K|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Silent_p.K308K|NOX4_ENST00000527956.1_Silent_p.K308K|NOX4_ENST00000343727.5_Silent_p.K308K|NOX4_ENST00000535633.1_Silent_p.K308K|NOX4_ENST00000528341.1_Silent_p.K307K|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000534731.1_Silent_p.K332K|NOX4_ENST00000532825.1_Silent_p.K308K|NOX4_ENST00000413594.2_Silent_p.K353K|NOX4_ENST00000527626.1_Silent_p.K166K			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	332	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CAGGTCTTGCTTTAAAATTTT	0.378																																																	0													96	94	94					11																	89133398		2201	4299	6500	SO:0001819	synonymous_variant	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.996A>G	11.37:g.89133398T>C			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.K353	ENST00000263317.4	37	c.1059	CCDS8285.1	11																																																																																			NOX4	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000086991		0.378	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	-	0	83	0	T	NM_016931		89133398	-1	tier1	-	no_errors	ENST00000413594	ensembl	human	known	74_37	silent	17.28	66	14	SNP	1.000	C	C	89133398	T	C	89133398	2	2	6	1	0	0	0	0	0	0	0	1	10597	1606	56	4		4	NOX4	11	89133398	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	22892171	89133398	45873118	237	1710											
FAT3	120114	genome.wustl.edu	37	chr11	92600247	92600247	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgagctgccgctgcagaAcaagcgcagcagcttcgcgg	10	5	13	13	4	0	2	0	1	0	1	1	2	0	2	1	1	7	6	1	1	3	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:92600247A>C	ENST00000298047.6	+	21	12016	c.11999A>C	c.(11998-12000)aAc>aCc	p.N4000T	FAT3_ENST00000533797.1_Missense_Mutation_p.N335T|FAT3_ENST00000525166.1_Missense_Mutation_p.N3850T|FAT3_ENST00000409404.2_Missense_Mutation_p.N4000T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4000	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGCTGCAGAACAAGCGCAGC	0.652										TCGA Ovarian(4;0.039)																																							0													10	13	12					11																	92600247		2010	4169	6179	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11999A>C	11.37:g.92600247A>C	ENSP00000298047:p.Asn4000Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N4000T	ENST00000298047.6	37	c.11999		11	.	.	.	.	.	.	.	.	.	.	A	15.79	2.938284	0.52972	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.94	5.94	0.96194	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.69993	0.3173	L	0.52364	1.645	0.80722	D	1	P;B	0.52692	0.955;0.125	P;B	0.52454	0.699;0.082	T	0.65471	-0.6160	9	0.17369	T	0.5	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	4000;4000	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4000;4000;3850;335	ENSP00000298047:N4000T;ENSP00000387040:N4000T;ENSP00000432586:N3850T;ENSP00000436399:N335T	ENSP00000298047:N4000T	N	+	2	0	FAT3	92239895	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.017000	0.76399	2.279000	0.76181	0.459000	0.35465	AAC	FAT3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000165323		0.652	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	37	0	A	NM_001008781		92600247	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	C	C	92600247	A	C	92600247	3	2	6	1	0	0	0	0	1	0	0	0	5713	43	2	4	12081	4	FAT3	11	92600247	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	3466849	92600247	42406269	238	1711											
GRIA4	2893	genome.wustl.edu	37	chr11	105483135	105483135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtggacaacattgagacagCcaacagttttgctgtaacaa	14	10	9	8	0	0	1	0	1	0	1	0	3	0	2	1	1	5	3	1	1	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:105483135C>T	ENST00000530497.1	+	2	221	c.221C>T	c.(220-222)gCc>gTc	p.A74V	GRIA4_ENST00000525187.1_Missense_Mutation_p.A74V|GRIA4_ENST00000527669.1_Missense_Mutation_p.A74V|GRIA4_ENST00000282499.5_Missense_Mutation_p.A74V|GRIA4_ENST00000393127.2_Missense_Mutation_p.A74V|GRIA4_ENST00000393125.2_Missense_Mutation_p.A74V|GRIA4_ENST00000428631.2_Missense_Mutation_p.A74V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	74					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATTGAGACAGCCAACAGTTTT	0.393																																																	0													102	93	96					11																	105483135		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.221C>T	11.37:g.105483135C>T	ENSP00000435775:p.Ala74Val		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A74V	ENST00000530497.1	37	c.221	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365196	0.82463	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.81	5.81	0.92471	Extracellular ligand-binding receptor (1);	0.087447	0.48767	D	0.000170	T	0.80099	0.4561	L	0.50333	1.59	0.80722	D	1	B;P;P;B;P	0.48350	0.254;0.759;0.909;0.043;0.59	B;B;B;B;B	0.40636	0.047;0.226;0.335;0.035;0.178	T	0.76995	-0.2752	10	0.18276	T	0.48	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	74;74;104;74;74	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	V	74	ENSP00000376833:A74V;ENSP00000282499:A74V;ENSP00000376835:A74V;ENSP00000415551:A74V;ENSP00000432443:A74V;ENSP00000435775:A74V;ENSP00000432180:A74V	ENSP00000282499:A74V	A	+	2	0	GRIA4	104988345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GCC	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.393	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0	35	0	C			105483135	1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	105483135	C	T	105483135	3	4	6	1	0	0	0	0	1	0	0	0	6797	739	26	3	227	3	GRIA4	11	105483135	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	12882888	105483135	29523381	239	1712											
MLL	4297	genome.wustl.edu	37	chr11	118376220	118376220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttttggtttcagaatccAgccagaggacagacctcagt	12	10	9	10	0	2	3	2	0	0	3	3	4	3	4	3	2	2	1	3	2	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:118376220A>G	ENST00000389506.5	+	27	9604	c.9604A>G	c.(9604-9606)Agc>Ggc	p.S3202G	KMT2A_ENST00000534358.1_Missense_Mutation_p.S3205G|KMT2A_ENST00000354520.4_Missense_Mutation_p.S3164G			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3202					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTCAGAATCCAGCCAGAGGAC	0.483																																																	0													77	82	80					11																	118376220		2200	4295	6495	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9604A>G	11.37:g.118376220A>G	ENSP00000374157:p.Ser3202Gly		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S3202G	ENST00000389506.5	37	c.9604	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	6.312	0.425741	0.11987	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.79653	-1.29;-1.29;-1.27	5.55	4.43	0.53597	.	0.199212	0.53938	D	0.000043	T	0.52533	0.1740	N	0.01874	-0.695	0.23537	N	0.99747	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39603	-0.9606	10	0.15952	T	0.53	.	7.8093	0.29221	0.7807:0.0:0.2193:0.0	.	3205;3202	E9PQG7;Q03164	.;MLL1_HUMAN	G	3205;3202;3164;2112	ENSP00000436786:S3205G;ENSP00000374157:S3202G;ENSP00000346516:S3164G	ENSP00000346516:S3164G	S	+	1	0	MLL	117881430	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.976000	0.63785	1.127000	0.42034	0.482000	0.46254	AGC	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.483	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	30	0	A	NM_005933		118376220	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	G	G	118376220	A	G	118376220	3	3	6	1	0	0	0	0	1	0	0	0	9658	188	7	4	9710	4	MLL	11	118376220	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	12893085	118376220	16630296	240	1713											
OAF	220323	genome.wustl.edu	37	chr11	120099634	120099634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagcaggcggagctgcCtcgctgcaggcaggtggggg	6	5	19	11	2	1	1	1	0	0	1	2	2	1	2	1	6	4	5	1	6	0	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:120099634C>T	ENST00000328965.4	+	4	1118	c.605C>T	c.(604-606)cCt>cTt	p.P202L	OAF_ENST00000531220.1_Missense_Mutation_p.P86L	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	202						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCGGAGCTGCCTCGCTGCAGG	0.667																																																	0													34	32	32					11																	120099634		2202	4295	6497	SO:0001583	missense	0			BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	ENST00000328965.4:c.605C>T	11.37:g.120099634C>T	ENSP00000332613:p.Pro202Leu			Missense_Mutation	SNP	NULL	p.P202L	ENST00000328965.4	37	c.605	CCDS8430.1	11	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557852	0.27827	.	.	ENSG00000184232	ENST00000328965;ENST00000531220	T;T	0.28666	1.6;1.6	4.73	2.61	0.31194	.	0.278439	0.36519	N	0.002555	T	0.21267	0.0512	L	0.36672	1.1	0.40882	D	0.984004	B	0.32467	0.372	B	0.30316	0.114	T	0.11131	-1.0600	10	0.49607	T	0.09	-6.2189	9.0922	0.36619	0.2437:0.5782:0.178:0.0	.	202	Q86UD1	OAF_HUMAN	L	202;86	ENSP00000332613:P202L;ENSP00000431865:P86L	ENSP00000332613:P202L	P	+	2	0	OAF	119604844	0.234000	0.23783	0.591000	0.28745	0.557000	0.35523	1.745000	0.38278	2.167000	0.68274	0.655000	0.94253	CCT	OAF	-	NULL	ENSG00000184232		0.667	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAF	HGNC	protein_coding	OTTHUMT00000388036.2		0	53	0	C	NM_178507		120099634	1			no_errors	ENST00000328965	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.969	T	T	120099634	C	T	120099634	3	4	6	1	0	0	0	0	1	0	0	0	10837	681	24	3	619	3	OAF	11	120099634	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1723414	120099634	14906882	241	1714											
SLC37A2	219855	genome.wustl.edu	37	chr11	124954182	124954182	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaatggcagggccaccacTtgctgtgtcatgctcatctt	8	11	9	13	0	3	0	2	0	1	0	3	0	3	0	3	2	2	3	3	2	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr11:124954182T>A	ENST00000403796.2	+	12	1393	c.1092T>A	c.(1090-1092)acT>acA	p.T364T	SLC37A2_ENST00000525837.1_Intron|SLC37A2_ENST00000298280.5_Intron|SLC37A2_ENST00000407458.1_Silent_p.T364T|SLC37A2_ENST00000308074.4_Silent_p.T364T	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	364					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGGCCACCACTTGCTGTGTCA	0.612																																					Melanoma(11;373 620 21213 26083 47768)												0													163	115	131					11																	124954182		2201	4299	6500	SO:0001819	synonymous_variant	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1092T>A	11.37:g.124954182T>A			A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T364	ENST00000403796.2	37	c.1092	CCDS44757.1	11																																																																																			SLC37A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.612	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	-	0	36	0	T	XM_166184		124954182	1	tier1	-	no_errors	ENST00000308074	ensembl	human	known	74_37	silent	18.75	39	9	SNP	0.897	A	A	124954182	T	A	124954182	2	1	6	1	0	0	0	0	0	0	0	1	14643	1596	56	5		5	SLC37A2	11	124954182	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	4854548	124954182	10052334	242	1715											
AKAP3	10566	genome.wustl.edu	37	chr12	4736754	4736754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtctcctcctctgatttGggttcagaatacattttttc	8	17	6	10	0	3	2	1	1	2	1	6	2	4	2	2	1	1	1	2	1	3	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:4736754G>A	ENST00000545990.2	-	5	1838	c.1314C>T	c.(1312-1314)ccC>ccT	p.P438P	AKAP3_ENST00000228850.1_Silent_p.P438P|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	438					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CCTCTGATTTGGGTTCAGAAT	0.403																																																	0													119	119	119					12																	4736754		2203	4300	6503	SO:0001819	synonymous_variant	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1314C>T	12.37:g.4736754G>A			O75945|Q86X01|Q9UM61	Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.P438	ENST00000545990.2	37	c.1314	CCDS8531.1	12																																																																																			AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.403	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0	16	0	G	NM_006422		4736754	-1	tier1	-	no_errors	ENST00000228850	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.049	A	A	4736754	G	A	4736754	2	1	6	1	0	0	0	0	0	0	0	1	452	1335	47	3		3	AKAP3	12	4736754	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		4736754	129115141	243	1716											
CLEC6A	93978	genome.wustl.edu	37	chr12	8628756	8628756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgaatgagtcattttcTtattttctggggctttcaga	8	17	9	7	0	4	3	2	2	2	1	4	3	4	3	0	2	1	2	0	2	2	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:8628756T>C	ENST00000382073.3	+	5	591	c.405T>C	c.(403-405)tcT>tcC	p.S135S		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	135	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					agtcattttcttattttctgg	0.393																																																	0													76	76	76					12																	8628756		2203	4300	6503	SO:0001819	synonymous_variant	0			AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"C-type lectin domain containing"	14556	protein-coding gene	gene with protein product		613579	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.405T>C	12.37:g.8628756T>C			A2RUK3	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S135	ENST00000382073.3	37	c.405	CCDS31739.1	12																																																																																			CLEC6A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000205846		0.393	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC6A	HGNC	protein_coding	OTTHUMT00000400562.1	-	0	45	0	T	NM_001007033		8628756	1	tier1	-	no_errors	ENST00000382073	ensembl	human	known	74_37	silent	26.09	34	12	SNP	0.946	C	C	8628756	T	C	8628756	2	2	6	1	0	0	0	0	0	0	0	1	3527	1596	56	4		4	CLEC6A	12	8628756	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3892002	8628756	125223139	244	1717											
ABCC9	10060	genome.wustl.edu	37	chr12	22086848	22086848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtacttttgagctttggCtcccccaccctggaaaagag	8	13	9	11	0	0	2	0	1	0	1	1	3	1	3	3	2	2	3	3	2	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:22086848C>T	ENST00000261201.4	-	2	151	c.152G>A	c.(151-153)aGc>aAc	p.S51N	ABCC9_ENST00000345162.2_Missense_Mutation_p.S51N|ABCC9_ENST00000538350.1_Missense_Mutation_p.S51N|ABCC9_ENST00000326684.4_Missense_Mutation_p.S51N|ABCC9_ENST00000261200.4_Missense_Mutation_p.S51N	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	51					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGAGCTTTGGCTCCCCCACCC	0.378																																																	0													145	127	133					12																	22086848		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.152G>A	12.37:g.22086848C>T	ENSP00000261201:p.Ser51Asn		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S51N	ENST00000261201.4	37	c.152	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268147	0.80469	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162;ENST00000326684;ENST00000538350	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	M	0.70595	2.14	0.54753	D	0.999986	D;P;D;P	0.54964	0.969;0.917;0.957;0.763	P;P;P;P	0.59357	0.856;0.713;0.71;0.463	D	0.95371	0.8464	10	0.21540	T	0.41	-19.8613	14.5142	0.67809	0.0:0.8527:0.1473:0.0	.	51;51;51;51	G3V1N6;Q8N4N7;O60706;O60706-2	.;.;ABCC9_HUMAN;.	N	51	ENSP00000261200:S51N;ENSP00000261201:S51N;ENSP00000261202:S51N;ENSP00000317518:S51N;ENSP00000442604:S51N	ENSP00000261200:S51N	S	-	2	0	ABCC9	21978115	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.743000	0.68655	2.573000	0.86826	0.471000	0.43371	AGC	ABCC9	-	NULL	ENSG00000069431		0.378	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	44	0	C	NM_005691		22086848	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	22086848	C	T	22086848	3	4	6	1	0	0	0	0	1	0	0	0	59	797	28	3	4787	3	ABCC9	12	22086848	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	13458092	22086848	111765047	245	1718											
ITPR2	3709	genome.wustl.edu	37	chr12	26808727	26808727	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattcttcaacaaattccaTtgtcagggcaaatttcctct	12	15	4	10	0	4	0	2	0	2	0	6	0	6	0	2	1	1	1	2	1	4	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:26808727T>A	ENST00000381340.3	-	20	2919	c.2503A>T	c.(2503-2505)Atg>Ttg	p.M835L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	835					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACAAATTCCATTGTCAGGGCA	0.343																																																	0													108	107	107					12																	26808727		1799	4066	5865	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2503A>T	12.37:g.26808727T>A	ENSP00000370744:p.Met835Leu		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.M835L	ENST00000381340.3	37	c.2503	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898522	0.52227	.	.	ENSG00000123104	ENST00000381340	D	0.91124	-2.79	5.48	5.48	0.80851	.	0.036852	0.85682	N	0.000000	D	0.90191	0.6934	L	0.49350	1.555	0.80722	D	1	P	0.42456	0.78	P	0.48552	0.581	D	0.87649	0.2527	10	0.15952	T	0.53	.	15.5707	0.76333	0.0:0.0:0.0:1.0	.	835	Q14571	ITPR2_HUMAN	L	835	ENSP00000370744:M835L	ENSP00000370744:M835L	M	-	1	0	ITPR2	26699994	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	7.664000	0.83830	2.074000	0.62210	0.533000	0.62120	ATG	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.343	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1		0	53	0	T	NM_002223		26808727	-1			no_errors	ENST00000381340	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.998	A	A	26808727	T	A	26808727	3	1	6	1	0	0	0	0	1	0	0	0	7948	1493	52	5	5754	5	ITPR2	12	26808727	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	4721879	26808727	107043168	246	1719											
C12orf35	55196	genome.wustl.edu	37	chr12	32135930	32135930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctgtctttccctgtggAaaaagcaaccttcagatact	12	11	6	12	0	2	1	1	0	1	1	3	2	3	2	3	1	4	1	3	1	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:32135930A>G	ENST00000312561.4	+	4	2455	c.2041A>G	c.(2041-2043)Aaa>Gaa	p.K681E	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	681																	TTCCCTGTGGAAAAAGCAACC	0.423																																																	0													63	59	60					12																	32135930		2203	4299	6502	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2041A>G	12.37:g.32135930A>G	ENSP00000310338:p.Lys681Glu		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.K681E	ENST00000312561.4	37	c.2041	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	A	15.51	2.853822	0.51270	.	.	ENSG00000174718	ENST00000312561	T	0.21191	2.02	5.68	4.55	0.56014	.	0.000000	0.64402	D	0.000009	T	0.26991	0.0661	M	0.66939	2.045	0.35501	D	0.79977	D	0.55605	0.972	P	0.47075	0.536	T	0.37430	-0.9706	9	.	.	.	.	8.3429	0.32254	0.8429:0.0:0.1571:0.0	.	681	Q9HCM1	CL035_HUMAN	E	681	ENSP00000310338:K681E	.	K	+	1	0	C12orf35	32027197	1.000000	0.71417	0.995000	0.50966	0.279000	0.26890	3.770000	0.55310	0.986000	0.38683	-0.379000	0.06801	AAA	KIAA1551	-	NULL	ENSG00000174718		0.423	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	21	0	A	NM_018169		32135930	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	G	G	32135930	A	G	32135930	3	3	6	1	0	0	0	0	1	0	0	0	1687	247	9	4	2043	4	C12orf35	12	32135930	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	5327203	32135930	101715965	247	1720											
C12orf40	283461	genome.wustl.edu	37	chr12	40114981	40114981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagtgatgtttctctttgCaaccttgaaaggtgcagtgg	10	13	12	6	0	1	3	0	2	1	1	2	3	1	3	1	2	3	3	1	2	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:40114981C>T	ENST00000324616.5	+	13	2041	c.1887C>T	c.(1885-1887)tgC>tgT	p.C629C		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	629										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTTCTCTTTGCAACCTTGAAA	0.363																																																	0													127	120	122					12																	40114981		1883	4123	6006	SO:0001819	synonymous_variant	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1887C>T	12.37:g.40114981C>T			B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	NULL	p.C629	ENST00000324616.5	37	c.1887	CCDS41770.1	12																																																																																			C12orf40	-	NULL	ENSG00000180116		0.363	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0	26	0	C	NM_173599		40114981	1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.000	T	T	40114981	C	T	40114981	2	4	6	1	0	0	0	0	0	0	0	1	1691	718	25	3		3	C12orf40	12	40114981	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	7979051	40114981	93736914	248	1721											
PPHLN1	51535	genome.wustl.edu	37	chr12	42729775	42729775	+	Splice_Site	DEL	G	G	-																															acctcctcgaagtcatcccaGtgtaagttactcctacatat																								rs548195005		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:42729775delG	ENST00000395568.2	+	2	155	c.71delG	c.(70-72)agt>at	p.S24fs	PPHLN1_ENST00000549190.1_Splice_Site_p.S42fs|PPHLN1_ENST00000358314.7_Splice_Site_p.S24fs|PPHLN1_ENST00000317560.9_Splice_Site_p.S31fs|PPHLN1_ENST00000395580.3_Splice_Site_p.S31fs|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000337898.6_Splice_Site_p.S24fs|PPHLN1_ENST00000432191.2_Splice_Site_p.S24fs|PPHLN1_ENST00000449194.2_Splice_Site_p.S24fs|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Splice_Site_p.S31fs	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	24					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		AGTCATCCCAGTGTAAGTTAC	0.388																																																	0													108	111	110					12																	42729775		2203	4300	6503	SO:0001630	splice_region_variant	0			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.72+1G>-	12.37:g.42729775delG			E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Frame_Shift_Del	DEL	NULL	p.S24fs	ENST00000395568.2	37	c.71	CCDS31777.1	12																																																																																			PPHLN1	-	NULL	ENSG00000134283		0.388	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	PPHLN1	HGNC	protein_coding	OTTHUMT00000404047.1		0	42	0	G	NM_201515	Frame_Shift_Del	42729775	1	tier1		no_errors	ENST00000395568	ensembl	human	known	74_37	frame_shift_del	23.26	33	10	DEL	0.947	-	-	42729775	G	-	42729775	8	5	6	1	0	1	0	1	0	0	1	0	12354	1043	36	0	98	0	PPHLN1	12	42729775	Splice_Site	DEL	G	TCGA-2H-A9GK-01A-11D-A37C-09	2614794	42729775	91122120	249	1722											
NELL2	4753	genome.wustl.edu	37	chr12	45171055	45171055	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgggcactgagcaataaAtccctggggcatgacaagta	13	8	11	9	0	1	2	0	2	1	0	2	2	2	2	1	3	1	4	1	3	5	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:45171055A>C	ENST00000429094.2	-	6	1153	c.649T>G	c.(649-651)Ttt>Gtt	p.F217V	NELL2_ENST00000452445.2_Missense_Mutation_p.F217V|NELL2_ENST00000549027.1_Missense_Mutation_p.F216V|NELL2_ENST00000395487.2_Missense_Mutation_p.F216V|NELL2_ENST00000551601.1_Missense_Mutation_p.F216V|NELL2_ENST00000547172.1_5'Flank|NELL2_ENST00000437801.2_Missense_Mutation_p.F267V|NELL2_ENST00000333837.4_Missense_Mutation_p.F240V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	217	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TGAGCAATAAATCCCTGGGGC	0.368																																																	0													139	130	133					12																	45171055		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.649T>G	12.37:g.45171055A>C	ENSP00000390680:p.Phe217Val		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.F267V	ENST00000429094.2	37	c.799	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795312	0.70452	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993	T;T;T;T;T;T;T;T	0.81330	-1.43;-1.4;-1.11;-1.4;-1.43;-1.36;-1.48;2.78	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.053081	0.85682	D	0.000000	T	0.80773	0.4687	M	0.62723	1.935	0.53688	D	0.999974	B;B;P;B;B;B	0.36789	0.181;0.446;0.57;0.319;0.376;0.311	B;B;B;B;B;B	0.39217	0.036;0.211;0.294;0.051;0.115;0.211	T	0.82655	-0.0350	10	0.72032	D	0.01	-19.6245	15.8389	0.78824	1.0:0.0:0.0:0.0	.	240;267;216;217;217;216	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	V	216;217;216;217;216;240;267;216;217	ENSP00000378866:F216V;ENSP00000390680:F217V;ENSP00000449332:F216V;ENSP00000394612:F217V;ENSP00000447927:F216V;ENSP00000327988:F240V;ENSP00000416341:F267V;ENSP00000447085:F217V	ENSP00000327988:F240V	F	-	1	0	NELL2	43457322	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.172000	0.94808	2.150000	0.67090	0.533000	0.62120	TTT	NELL2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000184613		0.368	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	34	0	A	NM_006159		45171055	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	C	C	45171055	A	C	45171055	3	2	6	1	0	0	0	0	1	0	0	0	10373	101	4	4	1861	4	NELL2	12	45171055	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	2441280	45171055	88680840	250	1723											
MLL2	8085	genome.wustl.edu	37	chr12	49443863	49443863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgtctgcttgcattcggGgtagacctccataggggtca	6	12	13	10	1	2	1	1	0	1	1	4	1	3	1	2	4	3	4	2	4	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:49443863G>T	ENST00000301067.7	-	11	3507	c.3508C>A	c.(3508-3510)Ccc>Acc	p.P1170T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1170	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGCATTCGGGGTAGACCTCC	0.612																																																	0													63	69	67					12																	49443863		1984	4152	6136	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3508C>A	12.37:g.49443863G>T	ENSP00000301067:p.Pro1170Thr		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P1170T	ENST00000301067.7	37	c.3508	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	7.076	0.569264	0.13560	.	.	ENSG00000167548	ENST00000301067	T	0.80304	-1.36	4.88	1.8	0.24995	.	0.222313	0.23219	N	0.050584	T	0.56499	0.1989	N	0.08118	0	0.26605	N	0.97295	B	0.13594	0.008	B	0.14578	0.011	T	0.50021	-0.8876	10	0.87932	D	0	.	1.5958	0.02663	0.1852:0.3037:0.3544:0.1567	.	1170	O14686	MLL2_HUMAN	T	1170	ENSP00000301067:P1170T	ENSP00000301067:P1170T	P	-	1	0	MLL2	47730130	0.695000	0.27747	1.000000	0.80357	0.899000	0.52679	0.579000	0.23788	0.635000	0.30488	-0.244000	0.11960	CCC	KMT2D	-	NULL	ENSG00000167548		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	66	0	G			49443863	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.940	T	T	49443863	G	T	49443863	3	4	6	1	0	0	0	0	1	0	0	0	9659	1232	43	3	13281	3	MLL2	12	49443863	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	4272808	49443863	84408032	251	1724											
KCNH3	23416	genome.wustl.edu	37	chr12	49950970	49950970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctactacccacagagagCggcctgctcactgttcccca	9	8	7	17	1	1	1	1	0	0	1	3	2	3	1	5	1	4	2	5	1	2	3	rs377373409		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:49950970C>T	ENST00000257981.6	+	14	2840	c.2580C>T	c.(2578-2580)agC>agT	p.S860S	MCRS1_ENST00000547182.1_5'Flank	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	860					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCACAGAGAGCGGCCTGCTCA	0.597																																																	0								C		0,4406		0,0,2203	57	54	55		2580	-9.4	0.2	12		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNH3	NM_012284.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		860/1084	49950970	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.2580C>T	12.37:g.49950970C>T			Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S860	ENST00000257981.6	37	c.2580	CCDS8786.1	12																																																																																			KCNH3	-	NULL	ENSG00000135519		0.597	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	-	0	29	0	C	NM_012284		49950970	1	tier1	-	no_errors	ENST00000257981	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.298	T	T	49950970	C	T	49950970	2	4	6	1	0	0	0	0	0	0	0	1	8060	767	27	1		1	KCNH3	12	49950970	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	507107	49950970	83900925	252	1725											
SMARCC2	6601	genome.wustl.edu	37	chr12	56558198	56558198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcaaggaagatggcaTggtggtggtcgccggcaggt	9	6	20	6	2	0	2	0	0	0	2	1	4	0	3	1	8	0	3	1	8	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:56558198T>C	ENST00000267064.4	-	27	3543	c.3457A>G	c.(3457-3459)Atg>Gtg	p.M1153V	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_Missense_Mutation_p.M1184V|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1153	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAAGATGGCATGGTGGTGGTC	0.657																																																	0													69	67	67					12																	56558198		2203	4299	6502	SO:0001583	missense	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3457A>G	12.37:g.56558198T>C	ENSP00000267064:p.Met1153Val		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.M1153V	ENST00000267064.4	37	c.3457	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846872	0.32606	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.41400	1.0;1.01	4.75	4.75	0.60458	.	0.000000	0.56097	D	0.000021	T	0.25494	0.0620	N	0.03608	-0.345	0.28283	N	0.923901	B	0.26041	0.14	B	0.38194	0.267	T	0.29181	-1.0020	9	.	.	.	-12.1139	12.5367	0.56145	0.0:0.0:0.0:1.0	.	1153	Q8TAQ2	SMRC2_HUMAN	V	1184;1153	ENSP00000449396:M1184V;ENSP00000267064:M1153V	.	M	-	1	0	SMARCC2	54844465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.396000	0.44468	2.132000	0.65825	0.460000	0.39030	ATG	SMARCC2	-	NULL	ENSG00000139613		0.657	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	-	0	62	0	T			56558198	-1	tier1	-	no_errors	ENST00000267064	ensembl	human	known	74_37	missense	27.59	63	24	SNP	1.000	C	C	56558198	T	C	56558198	3	2	6	1	0	0	0	0	1	0	0	0	14821	1464	51	4	195	4	SMARCC2	12	56558198	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	6607228	56558198	77293697	253	1726											
NAV3	89795	genome.wustl.edu	37	chr12	78392127	78392127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actatttcaggcttccagggCcctctagggtgcctgctgca	6	11	11	13	0	2	0	1	0	1	0	3	0	3	0	3	3	3	3	3	3	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:78392127C>A	ENST00000397909.2	+	7	924	c.751C>A	c.(751-753)Ccc>Acc	p.P251T	NAV3_ENST00000228327.6_Missense_Mutation_p.P251T|NAV3_ENST00000266692.7_Missense_Mutation_p.P251T|NAV3_ENST00000536525.2_Missense_Mutation_p.P251T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	251						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTTCCAGGGCCCTCTAGGGT	0.413										HNSCC(70;0.22)																																							0													39	36	37					12																	78392127		1816	4078	5894	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.751C>A	12.37:g.78392127C>A	ENSP00000381007:p.Pro251Thr		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.P251T	ENST00000397909.2	37	c.751		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.74|17.74	3.463539|3.463539	0.63513|0.63513	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T;T	.|0.41065	.|1.01;1.01;1.01;1.01;1.01	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.40064	.|U	.|0.001195	T|T	0.62974|0.62974	0.2472|0.2472	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|B;D	.|0.89917	.|0.1;1.0	.|B;D	.|0.87578	.|0.033;0.998	T|T	0.64158|0.64158	-0.6473|-0.6473	5|10	.|0.87932	.|D	.|0	-10.6037|-10.6037	19.5543|19.5543	0.95335|0.95335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|251;251	.|Q8IVL0;Q8IVL0-2	.|NAV3_HUMAN;.	D|T	74|251	.|ENSP00000446628:P251T;ENSP00000446132:P251T;ENSP00000381007:P251T;ENSP00000228327:P251T;ENSP00000266692:P251T	.|ENSP00000228327:P251T	A|P	+|+	2|1	0|0	NAV3|NAV3	76916258|76916258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.293000|7.293000	0.78740|0.78740	2.617000|2.617000	0.88574|0.88574	0.655000|0.655000	0.94253|0.94253	GCC|CCC	NAV3	-	NULL	ENSG00000067798		0.413	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	27	0	C	NM_001024383		78392127	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	78392127	C	A	78392127	3	1	6	1	0	0	0	0	1	0	0	0	10223	739	26	3	777	3	NAV3	12	78392127	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	21833929	78392127	55459768	254	1727											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85517861	85517861	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcagagatgtatttaccTtggatactgcagaaaatctc	12	14	8	7	0	2	2	1	0	1	2	3	4	2	3	1	1	3	3	1	1	5	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:85517861T>C	ENST00000393217.2	+	17	3632	c.3571T>C	c.(3571-3573)Ttg>Ctg	p.L1191L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1191										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTATTTACCTTGGATACTGC	0.318																																																	0													43	46	45					12																	85517861		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3571T>C	12.37:g.85517861T>C			Q567P4|Q9BS17|Q9HA36	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.L1191	ENST00000393217.2	37	c.3571	CCDS41816.1	12																																																																																			LRRIQ1	-	NULL	ENSG00000133640		0.318	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	28	0	T	NM_032165		85517861	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	silent	25.81	22	8	SNP	0.006	C	C	85517861	T	C	85517861	2	2	6	1	0	0	0	0	0	0	0	1	9064	1606	56	4		4	LRRIQ1	12	85517861	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	7125734	85517861	48334034	255	1728											
RASSF9	9182	genome.wustl.edu	37	chr12	86199481	86199481	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggctgctcatctccccAcgctttccaaagcttcagga	8	11	8	14	1	3	0	2	0	1	0	5	1	4	1	3	2	2	4	3	2	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:86199481A>T	ENST00000361228.3	-	2	675	c.307T>A	c.(307-309)Tgg>Agg	p.W103R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	103	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATCTCCCCACGCTTTCCAA	0.463																																																	0													113	113	113					12																	86199481		1904	4126	6030	SO:0001583	missense	0				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.307T>A	12.37:g.86199481A>T	ENSP00000354884:p.Trp103Arg		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	smart_Ras-assoc,pfscan_Ras-assoc	p.W103R	ENST00000361228.3	37	c.307	CCDS44950.1	12	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791035	0.70452	.	.	ENSG00000198774	ENST00000361228	T	0.49139	0.79	4.96	4.96	0.65561	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81491	-0.0909	10	0.72032	D	0.01	-10.8558	14.9265	0.70881	1.0:0.0:0.0:0.0	.	103	O75901	RASF9_HUMAN	R	103	ENSP00000354884:W103R	ENSP00000354884:W103R	W	-	1	0	RASSF9	84723612	1.000000	0.71417	0.982000	0.44146	0.907000	0.53573	9.213000	0.95133	1.999000	0.58509	0.496000	0.49642	TGG	RASSF9	-	smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000198774		0.463	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	HGNC	protein_coding	OTTHUMT00000406109.1		0	24	0	A			86199481	-1			no_errors	ENST00000361228	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.999	T	T	86199481	A	T	86199481	3	4	6	1	0	0	0	0	1	0	0	0	13138	159	6	5	1004	5	RASSF9	12	86199481	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	681620	86199481	47652414	256	1729											
SLC5A8	160728	genome.wustl.edu	37	chr12	101560435	101560435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctccaattccaacccAtagagaaatggcaaatccag	15	8	7	11	0	0	2	0	1	0	1	3	3	3	2	4	1	2	2	4	1	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:101560435A>G	ENST00000536262.2	-	12	1921	c.1363T>C	c.(1363-1365)Tgg>Cgg	p.W455R		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCCAACCCATAGAGAAATG	0.388																																					GBM(60;420 1056 13605 22380 47675)												0													86	77	80					12																	101560435		2203	4300	6503	SO:0001583	missense	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.1363T>C	12.37:g.101560435A>G	ENSP00000445340:p.Trp455Arg			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.W455R	ENST00000536262.2	37	c.1363	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	A	15.47	2.843983	0.51164	.	.	ENSG00000256870	ENST00000536262	D	0.89270	-2.49	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95818	0.8847	10	0.87932	D	0	.	14.393	0.66991	1.0:0.0:0.0:0.0	.	455	Q8N695	SC5A8_HUMAN	R	455	ENSP00000445340:W455R	ENSP00000445340:W455R	W	-	1	0	SLC5A8	100084566	1.000000	0.71417	0.968000	0.41197	0.223000	0.24884	7.560000	0.82277	2.047000	0.60756	0.533000	0.62120	TGG	SLC5A8	-	pfscan_Na/solute_symporter	ENSG00000256870		0.388	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	-	0	43	0	A	NM_145913		101560435	-1	tier1	-	no_errors	ENST00000536262	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	G	G	101560435	A	G	101560435	3	3	6	1	0	0	0	0	1	0	0	0	14716	217	8	4	485	4	SLC5A8	12	101560435	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	15360954	101560435	32291460	257	1730											
PAH	5053	genome.wustl.edu	37	chr12	103237424	103237424	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctttgtcaccacctcacCttactttctccttggcatca	7	14	3	17	0	4	0	3	0	1	0	5	0	4	0	5	1	1	1	5	1	1	4	rs199475603|rs199475658|rs199475590		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:103237424C>G	ENST00000553106.1	-	11	1671	c.1199G>C	c.(1198-1200)aGg>aCg	p.R400T	PAH_ENST00000307000.2_Splice_Site_p.R395T	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	400			Missing (in PKU; haplotype 7).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACCACCTCACCTTACTTTCTC	0.532																																																	0			GRCh37	CD962118|CM034748|CM056669	PAH	D|M							119	111	114					12																	103237424		2203	4300	6503	SO:0001630	splice_region_variant	0			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1199+1G>C	12.37:g.103237424C>G			Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.R400T	ENST00000553106.1	37	c.1199	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072458	0.76415	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99660	-6.32;-6.32	5.34	4.44	0.53790	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98880	0.9621	M	0.71296	2.17	0.80722	D	1	B	0.23650	0.089	B	0.32149	0.141	D	0.99951	1.1548	9	.	.	.	-16.0503	14.3913	0.66981	0.0:0.9274:0.0:0.0726	rs62652668	400	P00439	PH4H_HUMAN	T	400;395	ENSP00000448059:R400T;ENSP00000303500:R395T	.	R	-	2	0	PAH	101761554	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.940000	0.70187	2.494000	0.84150	0.591000	0.81541	AGG	PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra	ENSG00000171759		0.532	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	-	0	47	0	C		Missense_Mutation	103237424	-1	tier1	rs199475658	no_errors	ENST00000553106	ensembl	human	known	74_37	missense	17.07	68	14	SNP	1.000	G	G	103237424	C	G	103237424	5	3	6	1	0	0	0	0	0	0	1	0	11433	695	24	5	171	5	PAH	12	103237424	Splice_Site	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1676989	103237424	30614471	258	1731											
HCFC2	29915	genome.wustl.edu	37	chr12	104481790	104481790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaccctcacagacaaGgcagtaataacatcgttcct	13	8	9	11	1	1	1	1	0	0	1	3	3	2	3	2	3	1	3	2	3	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:104481790G>T	ENST00000229330.4	+	9	1362	c.1258G>T	c.(1258-1260)Ggc>Tgc	p.G420C		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	420	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCACAGACAAGGCAGTAATAA	0.313																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													120	110	113					12																	104481790		2203	4300	6503	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1258G>T	12.37:g.104481790G>T	ENSP00000229330:p.Gly420Cys		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G420C	ENST00000229330.4	37	c.1258	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084372	0.55861	.	.	ENSG00000111727	ENST00000229330	T	0.01787	4.64	5.82	5.82	0.92795	Fibronectin, type III (3);	0.411602	0.20719	N	0.086942	T	0.02267	0.0070	L	0.29908	0.895	0.44579	D	0.997544	P	0.48640	0.913	B	0.41036	0.346	T	0.67550	-0.5642	10	0.41790	T	0.15	-3.8534	15.5852	0.76475	0.0:0.0:1.0:0.0	.	420	Q9Y5Z7	HCFC2_HUMAN	C	420	ENSP00000229330:G420C	ENSP00000229330:G420C	G	+	1	0	HCFC2	103005920	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.944000	0.49034	2.758000	0.94735	0.650000	0.86243	GGC	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000111727		0.313	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	-	0	43	0	G	NM_013320		104481790	1	tier1	-	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	104481790	G	T	104481790	3	4	6	1	0	0	0	0	1	0	0	0	7020	1000	35	3	1292	3	HCFC2	12	104481790	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1244366	104481790	29370105	259	1732											
PWP1	11137	genome.wustl.edu	37	chr12	108096757	108096757	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaacactgtaattctgtgGgatatgtccttggggaaacc	11	11	11	8	0	1	0	0	0	1	0	2	3	2	2	2	3	2	1	2	3	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:108096757G>C	ENST00000412830.3	+	9	1020	c.852G>C	c.(850-852)tgG>tgC	p.W284C	PWP1_ENST00000541166.1_Missense_Mutation_p.W222C	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	284					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TAATTCTGTGGGATATGTCCT	0.403																																																	0													125	115	118					12																	108096757		2203	4300	6503	SO:0001583	missense	0			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.852G>C	12.37:g.108096757G>C	ENSP00000387365:p.Trp284Cys		A8K3R6|Q7Z3X9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W284C	ENST00000412830.3	37	c.852	CCDS9114.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396082	0.83011	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000541166	D;D	0.83506	-1.73;-1.73	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94460	0.8217	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95653	0.8708	10	0.87932	D	0	.	19.4527	0.94873	0.0:0.0:1.0:0.0	.	284	Q13610	PWP1_HUMAN	C	284;284;222	ENSP00000387365:W284C;ENSP00000445249:W222C	ENSP00000258531:W284C	W	+	3	0	PWP1	106620887	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.831000	0.92068	2.696000	0.92011	0.655000	0.94253	TGG	PWP1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000136045		0.403	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP1	HGNC	protein_coding	OTTHUMT00000406539.1	-	0	23	0	G	NM_007062		108096757	1	tier1	-	no_errors	ENST00000412830	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	C	C	108096757	G	C	108096757	3	2	6	1	0	0	0	0	1	0	0	0	12888	1241	43	5	886	5	PWP1	12	108096757	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3614967	108096757	25755138	260	1733											
ANKRD13A	88455	genome.wustl.edu	37	chr12	110463586	110463586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgatcaccaaaataCgcacagaacatctgaccgag	16	7	8	10	2	2	4	1	3	1	1	2	5	2	4	2	0	2	1	2	0	5	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:110463586C>T	ENST00000261739.4	+	8	1007	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	281						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CACCAAAATACGCACAGAACA	0.408																																																	0													176	165	168					12																	110463586		2203	4300	6503	SO:0001583	missense	0			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"Ankyrin repeat domain containing"	21268	protein-coding gene	gene with protein product		615123	"ankyrin repeat domain 13"	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.841C>T	12.37:g.110463586C>T	ENSP00000261739:p.Arg281Cys		O60736	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.R281C	ENST00000261739.4	37	c.841	CCDS9140.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538970	0.85917	.	.	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000546476	T	0.61392	0.11	5.74	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82121	-0.0614	10	0.87932	D	0	-0.1186	11.7478	0.51830	0.3108:0.6892:0.0:0.0	.	281;281	B4DYP5;Q8IZ07	.;AN13A_HUMAN	C	66;281;52	ENSP00000261739:R281C	ENSP00000261738:R66C	R	+	1	0	ANKRD13A	108947969	0.886000	0.30341	0.994000	0.49952	0.966000	0.64601	1.444000	0.35068	2.716000	0.92895	0.561000	0.74099	CGC	ANKRD13A	-	pfam_ANKRD13	ENSG00000076513		0.408	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13A	HGNC	protein_coding	OTTHUMT00000403430.1	-	0	62	0	C	NM_033121		110463586	1	tier1	-	no_errors	ENST00000261739	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	T	T	110463586	C	T	110463586	3	4	6	1	0	0	0	0	1	0	0	0	641	536	19	1	871	1	ANKRD13A	12	110463586	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2366829	110463586	23388309	261	1734											
RBM19	9904	genome.wustl.edu	37	chr12	114296648	114296648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccgaagcctctgtgtgtgCctgtcccagtcatcttcttt	5	14	9	13	1	4	0	1	0	3	0	5	1	5	0	4	0	3	0	4	0	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:114296648C>T	ENST00000545145.2	-	22	2690	c.2612G>A	c.(2611-2613)gGc>gAc	p.G871D	RBM19_ENST00000261741.5_Missense_Mutation_p.G871D|RBM19_ENST00000392561.3_Missense_Mutation_p.G871D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	871	RRM 6. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTGTGTGTGCCTGTCCCAGT	0.552																																																	0													142	131	135					12																	114296648		2203	4300	6503	SO:0001583	missense	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2612G>A	12.37:g.114296648C>T	ENSP00000442053:p.Gly871Asp		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.G871D	ENST00000545145.2	37	c.2612	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925965	0.73327	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.20738	2.05;2.05;2.05	5.2	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.185124	0.45867	D	0.000333	T	0.50051	0.1593	M	0.83852	2.665	0.80722	D	1	D	0.67145	0.996	D	0.68765	0.96	T	0.50162	-0.8860	10	0.35671	T	0.21	-25.8407	18.7652	0.91869	0.0:1.0:0.0:0.0	.	871	Q9Y4C8	RBM19_HUMAN	D	871	ENSP00000442053:G871D;ENSP00000376344:G871D;ENSP00000261741:G871D	ENSP00000261741:G871D	G	-	2	0	RBM19	112781031	1.000000	0.71417	0.542000	0.28115	0.985000	0.73830	6.819000	0.75262	2.412000	0.81896	0.655000	0.94253	GGC	RBM19	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.552	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	-	0	64	0	C	NM_016196		114296648	-1	tier1	-	no_errors	ENST00000261741	ensembl	human	known	74_37	missense	5.56	67	4	SNP	0.999	T	T	114296648	C	T	114296648	3	4	6	1	0	0	0	0	1	0	0	0	13166	739	26	3	282	3	RBM19	12	114296648	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3833062	114296648	19555247	262	1735											
TBX3	6926	genome.wustl.edu	37	chr12	115118902	115118902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaataaaatgtatttggCttttttatccagcccagaac	13	14	5	9	0	1	1	1	0	0	1	2	1	2	1	2	1	2	2	2	1	6	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:115118902C>T	ENST00000257566.3	-	2	828	c.439G>A	c.(439-441)Gcc>Acc	p.A147T	TBX3_ENST00000349155.2_Missense_Mutation_p.A147T	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	147					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGTATTTGGCTTTTTTATCC	0.383																																																	0													131	139	136					12																	115118902		2203	4300	6503	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.439G>A	12.37:g.115118902C>T	ENSP00000257566:p.Ala147Thr		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A147T	ENST00000257566.3	37	c.439	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.749346	0.96882	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88586	-2.4;-2.4	5.75	5.75	0.90469	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.998	D;D;D	0.80764	0.982;0.99;0.994	D	0.93811	0.7110	10	0.44086	T	0.13	.	18.9263	0.92546	0.0:1.0:0.0:0.0	.	147;147;147	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	T	147	ENSP00000257567:A147T;ENSP00000257566:A147T	ENSP00000257566:A147T	A	-	1	0	TBX3	113603285	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.485000	0.81204	2.721000	0.93114	0.655000	0.94253	GCC	TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.383	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2		0	34	0	C	NM_016569, NM_005996		115118902	-1			no_errors	ENST00000257566	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	115118902	C	T	115118902	3	4	6	1	0	0	0	0	1	0	0	0	15706	797	28	3	1820	3	TBX3	12	115118902	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	822254	115118902	18732993	263	1736											
ANKLE2	23141	genome.wustl.edu	37	chr12	133306451	133306451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctttctactgcattgattCttgaagtcaggatctgatct	8	17	7	9	0	6	3	1	3	5	0	6	4	6	4	0	1	2	1	0	1	2	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:133306451C>G	ENST00000357997.5	-	11	2386	c.2297G>C	c.(2296-2298)aGa>aCa	p.R766T	ANKLE2_ENST00000539605.1_Missense_Mutation_p.R704T|ANKLE2_ENST00000542657.1_Missense_Mutation_p.R121T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.R121T|ANKLE2_ENST00000542374.1_Intron	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	766					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGCATTGATTCTTGAAGTCAG	0.428																																																	0													166	159	161					12																	133306451		1950	4154	6104	SO:0001583	missense	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2297G>C	12.37:g.133306451C>G	ENSP00000350686:p.Arg766Thr		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.R766T	ENST00000357997.5	37	c.2297	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039298	0.35989	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.46819	1.89;1.88;0.86;0.86;0.86	5.74	3.92	0.45320	.	0.853734	0.11244	N	0.584364	T	0.41166	0.1147	L	0.59436	1.845	0.09310	N	0.999998	B	0.18741	0.03	B	0.17433	0.018	T	0.38693	-0.9649	10	0.08381	T	0.77	-8.1009	10.0955	0.42473	0.0:0.786:0.0:0.214	.	766	Q86XL3	ANKL2_HUMAN	T	704;766;121;121;121	ENSP00000446268:R704T;ENSP00000350686:R766T;ENSP00000437807:R121T;ENSP00000438551:R121T;ENSP00000445760:R121T	ENSP00000350686:R766T	R	-	2	0	ANKLE2	131816524	0.000000	0.05858	0.001000	0.08648	0.222000	0.24845	0.611000	0.24268	0.894000	0.36317	0.645000	0.84053	AGA	ANKLE2	-	NULL	ENSG00000176915		0.428	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	-	0	63	0	C			133306451	-1	tier1	-	no_errors	ENST00000357997	ensembl	human	known	74_37	missense	13.33	65	10	SNP	0.001	G	G	133306451	C	G	133306451	3	3	6	1	0	0	0	0	1	0	0	0	633	913	32	5	531	5	ANKLE2	12	133306451	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	18187549	133306451	545444	264	1737											
GOLGA3	2802	genome.wustl.edu	37	chr12	133378518	133378518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgcacctgctgaagctgGctctgcaaggctgtcatctg	7	10	12	12	0	3	1	1	1	2	0	3	1	3	1	1	2	5	7	1	2	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr12:133378518G>T	ENST00000450791.2	-	7	1818	c.1635C>A	c.(1633-1635)agC>agA	p.S545R	GOLGA3_ENST00000537452.1_Missense_Mutation_p.S545R|GOLGA3_ENST00000456883.2_Missense_Mutation_p.S545R|GOLGA3_ENST00000204726.3_Missense_Mutation_p.S545R|GOLGA3_ENST00000545875.1_Missense_Mutation_p.S545R			Q08378	GOGA3_HUMAN	golgin A3	545	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGAAGCTGGCTCTGCAAGG	0.657																																																	0													39	35	36					12																	133378518		2203	4300	6503	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1635C>A	12.37:g.133378518G>T	ENSP00000410378:p.Ser545Arg		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S545R	ENST00000450791.2	37	c.1635	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634705	0.67130	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.8	4.92	0.64577	.	0.276513	0.51477	D	0.000089	T	0.68403	0.2997	N	0.19112	0.55	0.80722	D	1	P;P;P	0.51351	0.935;0.886;0.944	P;P;P	0.49226	0.591;0.495;0.603	T	0.64875	-0.6304	10	0.21540	T	0.41	.	10.7821	0.46384	0.1437:0.0:0.8563:0.0	.	545;545;545	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	R	545	ENSP00000204726:S545R;ENSP00000410378:S545R;ENSP00000409303:S545R;ENSP00000442143:S545R;ENSP00000442603:S545R	ENSP00000204726:S545R	S	-	3	2	GOLGA3	131888591	0.998000	0.40836	1.000000	0.80357	0.896000	0.52359	1.387000	0.34430	1.471000	0.48121	0.655000	0.94253	AGC	GOLGA3	-	NULL	ENSG00000090615		0.657	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2		0	26	0	G	NM_005895		133378518	-1			no_errors	ENST00000204726	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	133378518	G	T	133378518	3	4	6	1	0	0	0	0	1	0	0	0	6580	1194	42	3	3067	3	GOLGA3	12	133378518	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	72067	133378518	473377	265	1738											
NBEA	26960	genome.wustl.edu	37	chr13	35756623	35756623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaactggaagccaaccaGgtagaaacatcaggcaagaa	19	3	10	9	0	1	3	1	0	0	3	1	4	1	4	2	3	4	2	2	3	8	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:35756623G>T	ENST00000400445.3	+	29	5323	c.4789G>T	c.(4789-4791)Ggt>Tgt	p.G1597C	NBEA_ENST00000540320.1_Missense_Mutation_p.G1597C|NBEA_ENST00000379939.2_Missense_Mutation_p.G1594C|NBEA_ENST00000310336.4_Missense_Mutation_p.G1597C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1597					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAGCCAACCAGGTAGAAACAT	0.373																																																	0													121	112	115					13																	35756623		1838	4084	5922	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4789G>T	13.37:g.35756623G>T	ENSP00000383295:p.Gly1597Cys		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.G1597C	ENST00000400445.3	37	c.4789	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	19.03	3.746913	0.69418	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.63	3.91	0.45181	.	0.444083	0.24659	N	0.036643	T	0.52581	0.1743	L	0.50333	1.59	0.80722	D	1	D;D	0.62365	0.983;0.991	P;P	0.52672	0.635;0.706	T	0.53746	-0.8395	10	0.66056	D	0.02	.	11.9629	0.53019	0.1399:0.0:0.8601:0.0	.	1597;1594	Q8NFP9;Q5T321	NBEA_HUMAN;.	C	1597;1597;1594;1597;256	ENSP00000440951:G1597C;ENSP00000383295:G1597C;ENSP00000369271:G1594C;ENSP00000308534:G1597C	ENSP00000308534:G1597C	G	+	1	0	NBEA	34654623	1.000000	0.71417	0.591000	0.28745	0.993000	0.82548	4.928000	0.63447	0.742000	0.32697	0.467000	0.42956	GGT	NBEA	-	NULL	ENSG00000172915		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	52	0	G	NM_015678		35756623	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	T	T	35756623	G	T	35756623	3	4	6	1	0	0	0	0	1	0	0	0	10225	1000	35	3	4903	3	NBEA	13	35756623	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		35756623	79413255	266	1739											
FREM2	341640	genome.wustl.edu	37	chr13	39451335	39451335	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtctctggttgtctgatGgatccatgggattcgggcaa	8	12	14	7	1	2	2	0	1	2	1	5	4	3	4	1	4	0	2	1	4	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:39451335G>T	ENST00000280481.7	+	21	8842	c.8626G>T	c.(8626-8628)Gga>Tga	p.G2876*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2876					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTGTCTGATGGATCCATGGG	0.433																																																	0													349	313	325					13																	39451335		2203	4300	6503	SO:0001587	stop_gained	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8626G>T	13.37:g.39451335G>T	ENSP00000280481:p.Gly2876*		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G2876*	ENST00000280481.7	37	c.8626	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	51	18.578065	0.99907	.	.	ENSG00000150893	ENST00000280481	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3151	0.98650	0.0:0.0:1.0:0.0	.	.	.	.	X	2876	.	ENSP00000280481:G2876X	G	+	1	0	FREM2	38349335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.809000	0.96659	0.467000	0.42956	GGA	FREM2	-	NULL	ENSG00000150893		0.433	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2		0	78	0	G	NM_207361		39451335	1			no_errors	ENST00000280481	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	39451335	G	T	39451335	4	4	6	1	0	0	0	0	0	1	0	0	6069	1349	47	3	8708	3	FREM2	13	39451335	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3694712	39451335	75718543	267	1740											
KBTBD6	89890	genome.wustl.edu	37	chr13	41706585	41706585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtttgtgaatcttcttgggCcgcttcccaccacggggact	5	12	12	12	2	2	1	0	1	2	0	3	2	3	2	3	4	0	2	3	4	1	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:41706585C>T	ENST00000379485.1	-	1	297	c.63G>A	c.(61-63)cgG>cgA	p.R21R	KBTBD6_ENST00000499385.2_Silent_p.R21R	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	21										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCTTCTTGGGCCGCTTCCCAC	0.617																																																	0													98	107	104					13																	41706585		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"BTB/POZ domain containing"	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.63G>A	13.37:g.41706585C>T			Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R21	ENST00000379485.1	37	c.63	CCDS9376.1	13																																																																																			KBTBD6	-	NULL	ENSG00000165572		0.617	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1		0	67	0	C	NM_152903		41706585	-1			no_errors	ENST00000379485	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.764	T	T	41706585	C	T	41706585	2	4	6	1	0	0	0	0	0	0	0	1	8024	726	26	3		3	KBTBD6	13	41706585	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2255250	41706585	73463293	268	1741											
ENOX1	55068	genome.wustl.edu	37	chr13	43900627	43900627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccaagctttttgtctGgtagaagcgttgaaaacggc	9	12	12	8	2	1	2	0	1	1	1	2	2	2	2	1	3	3	3	1	3	5	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:43900627G>T	ENST00000261488.6	-	10	1648	c.1071C>A	c.(1069-1071)acC>acA	p.T357T	ENOX1_ENST00000540032.1_Silent_p.T170T|ENOX1_ENST00000412891.1_Silent_p.T357T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	357					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTTTTTGTCTGGTAGAAGCGT	0.398																																																	0													130	120	124					13																	43900627		2203	4300	6503	SO:0001819	synonymous_variant	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1071C>A	13.37:g.43900627G>T			A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T357	ENST00000261488.6	37	c.1071	CCDS9389.1	13																																																																																			ENOX1	-	NULL	ENSG00000120658		0.398	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0	43	0	G	NM_017993		43900627	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	43900627	G	T	43900627	2	4	6	1	0	0	0	0	0	0	0	1	5142	1335	47	3		3	ENOX1	13	43900627	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2194042	43900627	71269251	269	1742											
PCDH17	27253	genome.wustl.edu	37	chr13	58299065	58299065	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcatcaagcagcccAaccaaggcgtgcatcgagcc	11	4	9	17	2	2	0	2	0	0	0	3	1	2	0	4	1	6	3	4	1	3	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:58299065A>G	ENST00000377918.3	+	4	3143	c.3117A>G	c.(3115-3117)ccA>ccG	p.P1039P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1039					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAAGCAGCCCAACCAAGGCGT	0.532																																					Melanoma(72;952 1291 1619 12849 33676)												0													86	86	86					13																	58299065		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3117A>G	13.37:g.58299065A>G			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1039	ENST00000377918.3	37	c.3117	CCDS31986.1	13																																																																																			PCDH17	-	NULL	ENSG00000118946		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	24	0	A	NM_001040429		58299065	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	silent	33.33	16	8	SNP	0.580	G	G	58299065	A	G	58299065	2	3	6	1	0	0	0	0	0	0	0	1	11551	117	5	4		4	PCDH17	13	58299065	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	14398438	58299065	56870813	270	1743											
FARP1	10160	genome.wustl.edu	37	chr13	99091107	99091107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctcggggaaggggctccAgcagcgcatgttcttcctgg	5	9	15	12	2	2	0	0	0	2	0	5	1	4	1	2	5	2	5	2	5	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:99091107A>G	ENST00000319562.6	+	20	2589	c.2324A>G	c.(2323-2325)cAg>cGg	p.Q775R	FARP1_ENST00000376586.2_Missense_Mutation_p.Q806R|FARP1_ENST00000595437.1_Missense_Mutation_p.Q806R	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	775	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGGGGCTCCAGCAGCGCATG	0.652																																																	0													71	69	70					13																	99091107		2203	4300	6503	SO:0001583	missense	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2324A>G	13.37:g.99091107A>G	ENSP00000322926:p.Gln775Arg		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Q806R	ENST00000319562.6	37	c.2417	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715004	0.89112	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.75821	-0.97;-0.97	5.6	5.6	0.85130	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.200003	0.45361	D	0.000377	D	0.85457	0.5701	M	0.72624	2.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.87165	0.2217	10	0.87932	D	0	.	15.7837	0.78286	1.0:0.0:0.0:0.0	.	775;806	Q9Y4F1;C9JME2	FARP1_HUMAN;.	R	806;775	ENSP00000365771:Q806R;ENSP00000322926:Q775R	ENSP00000322926:Q775R	Q	+	2	0	FARP1	97889108	1.000000	0.71417	0.928000	0.36995	0.991000	0.79684	9.335000	0.96500	2.120000	0.65058	0.533000	0.62120	CAG	FARP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000152767		0.652	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	58	0	A	NM_005766		99091107	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	G	G	99091107	A	G	99091107	3	3	6	1	0	0	0	0	1	0	0	0	5698	188	7	4	2621	4	FARP1	13	99091107	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	40792042	99091107	16078771	271	1744											
NALCN	259232	genome.wustl.edu	37	chr13	101762982	101762982	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttacatcttgagtcaaAgtttcaagagattttcccct	13	14	5	9	0	3	2	2	1	1	1	4	3	4	2	2	0	2	1	2	0	4	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:101762982A>C	ENST00000251127.6	-	20	2433	c.2352T>G	c.(2350-2352)acT>acG	p.T784T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	784					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGAGTCAAAGTTTCAAGAG	0.373																																																	0													166	152	157					13																	101762982		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2352T>G	13.37:g.101762982A>C			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.T784	ENST00000251127.6	37	c.2352	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	39	0	A	NM_052867		101762982	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.795	C	C	101762982	A	C	101762982	2	2	6	1	0	0	0	0	0	0	0	1	10186	59	3	4		4	NALCN	13	101762982	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	2671875	101762982	13406896	272	1745											
PCID2	55795	genome.wustl.edu	37	chr13	113839842	113839842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttcaccagaaacagcatgCcccacttcttagagtcctct	10	10	7	14	0	3	2	1	0	2	2	4	2	4	2	4	1	3	2	4	1	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr13:113839842C>T	ENST00000337344.4	-	8	576	c.500G>A	c.(499-501)gGc>gAc	p.G167D	PCID2_ENST00000375477.1_Missense_Mutation_p.G167D|PCID2_ENST00000246505.5_Missense_Mutation_p.G221D|PCID2_ENST00000375479.2_Missense_Mutation_p.G167D|PCID2_ENST00000375457.2_Missense_Mutation_p.G165D|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000375459.1_Missense_Mutation_p.G165D	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	167					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AAACAGCATGCCCCACTTCTT	0.348																																																	0													128	124	125					13																	113839842		2203	4300	6503	SO:0001583	missense	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.500G>A	13.37:g.113839842C>T	ENSP00000337405:p.Gly167Asp		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM	p.G221D	ENST00000337344.4	37	c.662	CCDS9532.2	13	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220155	0.79464	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	.	.	.	5.21	4.37	0.52481	PCI/PINT associated module (1);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86313	0.1687	9	0.52906	T	0.07	-20.2664	13.7278	0.62769	0.0:0.926:0.0:0.074	.	221;167	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	D	167;167;167;221;165;165;144;167;144	.	ENSP00000246505:G221D	G	-	2	0	PCID2	112887843	1.000000	0.71417	0.940000	0.37924	0.910000	0.53928	7.407000	0.80029	1.197000	0.43143	-0.251000	0.11542	GGC	PCID2	-	smart_PAM	ENSG00000126226		0.348	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	-	0	63	0	C	NM_018386		113839842	-1	tier1	-	no_errors	ENST00000246505	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.999	T	T	113839842	C	T	113839842	3	4	6	1	0	0	0	0	1	0	0	0	11618	739	26	3	727	3	PCID2	13	113839842	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	12076860	113839842	1330036	273	1746											
AKAP6	9472	genome.wustl.edu	37	chr14	33291901	33291901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggctcagttggtgaaCtaagtaaaagaacattagat	15	10	11	5	0	1	3	1	1	0	2	1	3	1	3	0	2	2	4	0	2	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:33291901C>G	ENST00000280979.4	+	13	5052	c.4882C>G	c.(4882-4884)Cta>Gta	p.L1628V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1628	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTTGGTGAACTAAGTAAAAG	0.398																																					Melanoma(49;821 1200 7288 13647 42351)												0													60	63	62					14																	33291901		2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4882C>G	14.37:g.33291901C>G	ENSP00000280979:p.Leu1628Val		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.L1628V	ENST00000280979.4	37	c.4882	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546122	0.45383	.	.	ENSG00000151320	ENST00000280979	T	0.17054	2.3	5.98	3.21	0.36854	.	0.066522	0.64402	D	0.000010	T	0.37919	0.1021	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.17471	-1.0368	10	0.87932	D	0	-6.4978	10.9346	0.47239	0.0:0.7993:0.0:0.2007	.	1628	Q13023	AKAP6_HUMAN	V	1628	ENSP00000280979:L1628V	ENSP00000280979:L1628V	L	+	1	2	AKAP6	32361652	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.041000	0.49807	0.877000	0.35895	-0.145000	0.13849	CTA	AKAP6	-	NULL	ENSG00000151320		0.398	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0	16	0	C	NM_004274		33291901	1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	G	G	33291901	C	G	33291901	3	3	6	1	0	0	0	0	1	0	0	0	455	564	20	5	4928	5	AKAP6	14	33291901	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09		33291901	74057639	274	1747											
MBIP	51562	genome.wustl.edu	37	chr14	36777397	36777397	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcttggcactggaccaccTaaatacattaaaaaaaaatc	17	10	4	10	0	1	0	0	0	1	0	3	1	1	1	2	2	1	1	2	2	8	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:36777397T>A	ENST00000416007.4	-	7	878		c.e7-2		MBIP_ENST00000318473.7_Splice_Site|MBIP_ENST00000359527.7_Intron	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		CTGGACCACCTAAATACATTA	0.303																																																	0													51	55	54					14																	36777397		2199	4291	6490	SO:0001630	splice_region_variant	0			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.791-2A>T	14.37:g.36777397T>A			Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Splice_Site	SNP	-	e7-2	ENST00000416007.4	37	c.791-2	CCDS9658.1	14	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820550	0.71028	.	.	ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000553977;ENST00000396329	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3299	0.74200	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MBIP	35847148	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.014000	0.76380	2.076000	0.62316	0.254000	0.18369	.	MBIP	-	-	ENSG00000151332		0.303	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2	-	0	41	0	T	NM_016586	Intron	36777397	-1	tier1	-	no_errors	ENST00000416007	ensembl	human	known	74_37	splice_site	28.57	20	8	SNP	1.000	A	A	36777397	T	A	36777397	5	1	6	1	0	0	0	0	0	0	1	0	9387	1536	53	5	257	5	MBIP	14	36777397	Splice_Site	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3485496	36777397	70572143	275	1748											
FSCB	84075	genome.wustl.edu	37	chr14	44974292	44974292	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagctggtggaggctgaacTtcagcgggggcctcctcagc	6	8	15	12	1	3	1	3	1	0	0	4	2	4	2	2	5	4	2	2	5	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:44974292T>G	ENST00000340446.4	-	1	2190	c.1899A>C	c.(1897-1899)gaA>gaC	p.E633D	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	633	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGCTGAACTTCAGCGGGGG	0.652																																																	0													2	1	1					14																	44974292		682	1602	2284	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1899A>C	14.37:g.44974292T>G	ENSP00000344579:p.Glu633Asp		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.E633D	ENST00000340446.4	37	c.1899	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	T	10.01	1.234309	0.22626	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14391	2.51	4.12	0.46	0.16684	.	.	.	.	.	T	0.11196	0.0273	L	0.50333	1.59	0.09310	N	1	B	0.14438	0.01	B	0.16289	0.015	T	0.33523	-0.9865	9	0.52906	T	0.07	-0.1119	2.4731	0.04569	0.3506:0.2004:0.0:0.449	.	633	Q5H9T9	FSCB_HUMAN	D	633;526	ENSP00000344579:E633D	ENSP00000344579:E633D	E	-	3	2	FSCB	44044042	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.184000	0.16939	0.255000	0.21593	-1.612000	0.00800	GAA	FSCB	-	NULL	ENSG00000189139		0.652	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1		0	59	0	T	NM_032135		44974292	-1			no_errors	ENST00000340446	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.000	G	G	44974292	T	G	44974292	3	3	6	1	0	0	0	0	1	0	0	0	6090	1606	56	4	582	4	FSCB	14	44974292	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	8196895	44974292	62375248	276	1749											
KLHL28	54813	genome.wustl.edu	37	chr14	45415050	45415050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttcgtgatgttggcgaaGaagattcaagccctgcagaa	12	9	13	7	2	1	4	1	1	0	3	2	6	1	4	1	1	2	3	1	1	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:45415050G>A	ENST00000396128.4	-	2	201	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	KLHL28_ENST00000355081.2_Missense_Mutation_p.L42F	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	28								p.L28V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTGGCGAAGAAGATTCAAG	0.433																																																	1	Substitution - Missense(1)	lung(1)											97	88	91					14																	45415050		2203	4300	6503	SO:0001583	missense	0			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.82C>T	14.37:g.45415050G>A	ENSP00000379434:p.Leu28Phe		Q0VAL5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L28F	ENST00000396128.4	37	c.82	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384411	0.61845	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500;ENST00000556239;ENST00000557468	T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;1.69	5.5	5.5	0.81552	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	L	0.56199	1.76	0.50171	D	0.999856	P;B	0.48230	0.907;0.01	P;B	0.54270	0.747;0.013	T	0.82049	-0.0650	10	0.66056	D	0.02	.	19.362	0.94445	0.0:0.0:1.0:0.0	.	28;28	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	F	28;42;28;28;28	ENSP00000379434:L28F;ENSP00000347193:L42F;ENSP00000452061:L28F;ENSP00000452591:L28F;ENSP00000450788:L28F	ENSP00000347193:L42F	L	-	1	0	KLHL28	44484800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.332000	0.59279	2.751000	0.94390	0.650000	0.86243	CTT	KLHL28	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000179454		0.433	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3		0	17	0	G			45415050	-1			no_errors	ENST00000396128	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	45415050	G	A	45415050	3	1	6	1	0	0	0	0	1	0	0	0	8409	942	33	3	1649	3	KLHL28	14	45415050	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	440758	45415050	61934490	277	1750											
PELI2	57161	genome.wustl.edu	37	chr14	56763841	56763841	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacacagctggttggggAgcaaaactgcatcaaattaa	14	9	10	8	0	1	0	1	0	0	0	1	1	1	1	0	3	6	5	0	3	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:56763841A>G	ENST00000267460.4	+	6	1506	c.1220A>G	c.(1219-1221)gAg>gGg	p.E407G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	407					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CTGGTTGGGGAGCAAAACTGC	0.458																																																	0													78	73	74					14																	56763841		2203	4300	6503	SO:0001583	missense	0			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1220A>G	14.37:g.56763841A>G	ENSP00000267460:p.Glu407Gly		B2RDY5	Missense_Mutation	SNP	pfam_Pellino_fam	p.E407G	ENST00000267460.4	37	c.1220	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062454	0.76187	.	.	ENSG00000139946	ENST00000267460	T	0.48201	0.82	5.83	5.83	0.93111	.	0.193295	0.53938	D	0.000042	T	0.54775	0.1879	M	0.72894	2.215	0.51767	D	0.999936	B	0.31705	0.336	B	0.37833	0.259	T	0.57723	-0.7762	10	0.62326	D	0.03	-35.1406	16.1936	0.82006	1.0:0.0:0.0:0.0	.	407	Q9HAT8	PELI2_HUMAN	G	407	ENSP00000267460:E407G	ENSP00000267460:E407G	E	+	2	0	PELI2	55833594	0.974000	0.33945	0.997000	0.53966	0.976000	0.68499	3.176000	0.50863	2.229000	0.72834	0.454000	0.30748	GAG	PELI2	-	pfam_Pellino_fam	ENSG00000139946		0.458	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	-	0	39	0	A			56763841	1	tier1	-	no_errors	ENST00000267460	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.995	G	G	56763841	A	G	56763841	3	3	6	1	0	0	0	0	1	0	0	0	11761	304	11	4	1242	4	PELI2	14	56763841	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	11348791	56763841	50585699	278	1751											
C14orf149	112849	genome.wustl.edu	37	chr14	59946071	59946072	+	Splice_Site	INS	-	-	A																															gaacatccaccatgagatctINSaaaaaaaagatgtgtttgga																										TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:59946071_59946072insA	ENST00000247194.4	-	2	622		c.e2-2		RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Splice_Site	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)						metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	CCATGAGATCTAAAAAAAAGAT	0.332																																																	0																																										SO:0001630	splice_region_variant	0			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.509-2->T	14.37:g.59946079_59946079dupA			Q96LJ5	Splice_Site	INS	-	e2-2	ENST00000247194.4	37	c.509-3_509-2	CCDS9739.1	14																																																																																			L3HYPDH	-	-	ENSG00000126790		0.332	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	L3HYPDH	HGNC	protein_coding	OTTHUMT00000072254.5		0	35	0	-	NM_144581	Intron	59946072	-1	tier1		no_errors	ENST00000247194	ensembl	human	known	74_37	splice_site_ins	8.11	34	3	INS	1.000:0.844	A	A	59946072	-	A	59946071	8	5	6	1	0	1	1	0	0	0	1	0	1757	1536	53	0	573	0	C14orf149	14	59946071	Splice_Site	INS	-	TCGA-2H-A9GK-01A-11D-A37C-09	3182230	59946071	47403469	279	1752											
ZNF410	57862	genome.wustl.edu	37	chr14	74364860	74364860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccagtgagagcacaGacagtagcattccatggttc	10	10	9	12	0	1	2	0	1	1	2	5	3	3	2	3	1	2	4	3	1	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:74364860G>T	ENST00000555044.1	+	5	669	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	ZNF410_ENST00000324593.6_Missense_Mutation_p.D159Y|ZNF410_ENST00000442160.3_Missense_Mutation_p.D176Y|ZNF410_ENST00000334521.4_Missense_Mutation_p.D106Y|ZNF410_ENST00000540593.1_Missense_Mutation_p.D86Y|ZNF410_ENST00000556797.1_Missense_Mutation_p.D106Y|RP5-1021I20.4_ENST00000556551.2_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGAGAGCACAGACAGTAGCAT	0.488																																																	0													153	135	141					14																	74364860		2203	4300	6503	SO:0001583	missense	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.475G>T	14.37:g.74364860G>T	ENSP00000451763:p.Asp159Tyr		B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D159Y	ENST00000555044.1	37	c.475	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708086	0.89018	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000557363;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556797	T;T;T;T;T	0.11495	2.89;2.89;2.85;2.85;2.77	5.17	5.17	0.71159	.	0.000000	0.40818	N	0.001014	T	0.23766	0.0575	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.997;0.997;0.993	T	0.01013	-1.1481	10	0.41790	T	0.15	.	18.8466	0.92209	0.0:0.0:1.0:0.0	.	86;176;159;159	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	Y	86;159;106;148;176;159;106;106	ENSP00000442228:D86Y;ENSP00000323293:D159Y;ENSP00000407130:D176Y;ENSP00000451763:D159Y;ENSP00000334170:D106Y	ENSP00000323293:D159Y	D	+	1	0	ZNF410	73434613	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.106000	0.94253	2.681000	0.91329	0.655000	0.94253	GAC	ZNF410	-	NULL	ENSG00000119725		0.488	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1		0	60	0	G	NM_021188		74364860	1			no_errors	ENST00000555044	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	74364860	G	T	74364860	3	4	6	1	0	0	0	0	1	0	0	0	17938	942	33	3	489	3	ZNF410	14	74364860	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	14418789	74364860	32984680	280	1753											
VIPAR	63894	genome.wustl.edu	37	chr14	77908903	77908903	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatgatcagttcttacCtgaagaggtctaaaagcaac	15	9	8	9	0	3	4	1	2	2	2	3	4	3	4	2	1	3	2	2	1	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:77908903C>T	ENST00000553888.1	-	10	1244	c.734G>A	c.(733-735)aGg>aAg	p.R245K	VIPAS39_ENST00000556412.1_Splice_Site_p.R271K|VIPAS39_ENST00000327028.4_Splice_Site_p.R232K|VIPAS39_ENST00000557658.1_Splice_Site_p.R245K|VIPAS39_ENST00000448935.2_Splice_Site_p.R196K|VIPAS39_ENST00000343765.2_Splice_Site_p.R245K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	245					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CAGTTCTTACCTGAAGAGGTC	0.433																																																	0													157	159	159					14																	77908903		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"VPS33B interacting protein, apical-basolateral polarity regulator"	613401	"chromosome 14 open reading frame 133"	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.734+1G>A	14.37:g.77908903C>T			B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5	p.R245K	ENST00000553888.1	37	c.734	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316877	0.23908	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	4.7	4.7	0.59300	.	0.091283	0.85682	D	0.000000	T	0.33381	0.0861	N	0.19112	0.55	0.51233	D	0.999913	B;B	0.26809	0.023;0.16	B;B	0.23150	0.018;0.044	T	0.10428	-1.0630	9	.	.	.	-16.2442	17.2495	0.87038	0.0:1.0:0.0:0.0	.	196;245	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	K	245;245;232;245;196;271	ENSP00000339122:R245K;ENSP00000452181:R245K;ENSP00000313098:R232K;ENSP00000452191:R245K;ENSP00000404815:R196K;ENSP00000451857:R271K	.	R	-	2	0	VIPAR	76978656	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.277000	0.51654	2.146000	0.66826	0.655000	0.94253	AGG	VIPAS39	-	pfam_Golgin_subfamily_A_member_5	ENSG00000151445		0.433	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	-	0	36	0	C	NM_022067	Missense_Mutation	77908903	-1	tier1	-	no_errors	ENST00000343765	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	T	T	77908903	C	T	77908903	5	4	6	1	0	0	0	0	0	0	1	0	17217	695	24	3	791	3	VIPAR	14	77908903	Splice_Site	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3544043	77908903	29440637	281	1754											
SPATA7	55812	genome.wustl.edu	37	chr14	88892755	88892755	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctccccgtccagtgtggaTtatgcagcctccgggccccg	4	9	11	17	3	0	0	0	0	0	0	4	1	4	1	8	2	2	1	8	2	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr14:88892755T>A	ENST00000393545.4	+	6	841	c.552T>A	c.(550-552)gaT>gaA	p.D184E	SPATA7_ENST00000045347.7_Missense_Mutation_p.D184E|SPATA7_ENST00000356583.5_Missense_Mutation_p.D152E|SPATA7_ENST00000556553.1_Missense_Mutation_p.D152E	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	184					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CCAGTGTGGATTATGCAGCCT	0.502																																																	0													71	66	68					14																	88892755		2203	4300	6503	SO:0001583	missense	0			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.552T>A	14.37:g.88892755T>A	ENSP00000377176:p.Asp184Glu		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	NULL	p.D184E	ENST00000393545.4	37	c.552	CCDS9883.1	14	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287357	0.59976	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000555401;ENST00000553885;ENST00000045347	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.11	-9.79	0.00494	.	0.792514	0.11441	N	0.563770	T	0.11196	0.0273	L	0.46157	1.445	0.09310	N	1	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.19391	0.025;0.015;0.015	T	0.13764	-1.0497	10	0.25751	T	0.34	-4.6888	10.0472	0.42195	0.1959:0.5421:0.0:0.262	.	152;152;184	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	E	152;184;152;127;170;184	ENSP00000451128:D152E;ENSP00000377176:D184E;ENSP00000348991:D152E;ENSP00000452435:D127E;ENSP00000450606:D170E;ENSP00000045347:D184E	ENSP00000045347:D184E	D	+	3	2	SPATA7	87962508	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.735000	0.04888	-2.354000	0.00614	-1.201000	0.01664	GAT	SPATA7	-	NULL	ENSG00000042317		0.502	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1		0	33	0	T			88892755	1			no_errors	ENST00000393545	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.000	A	A	88892755	T	A	88892755	3	1	6	1	0	0	0	0	1	0	0	0	15061	1490	52	5	574	5	SPATA7	14	88892755	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	10983852	88892755	18456785	282	1755											
RAD51	5888	genome.wustl.edu	37	chr15	41023356	41023356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccattaatgcagatggaGtgggagatgccaaagactga	13	8	13	7	1	0	4	0	1	0	3	1	6	0	5	2	2	2	1	2	2	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:41023356G>T	ENST00000267868.3	+	10	1268	c.1000G>T	c.(1000-1002)Gtg>Ttg	p.V334L	RAD51_ENST00000557850.1_Missense_Mutation_p.V237L|RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000532743.1_Missense_Mutation_p.V335L|RAD51_ENST00000423169.2_3'UTR|RAD51_ENST00000382643.3_Missense_Mutation_p.V335L	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	334					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		TGCAGATGGAGTGGGAGATGC	0.468								Homologous recombination																																									0													136	125	128					15																	41023356		2203	4300	6503	SO:0001583	missense	0			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.1000G>T	15.37:g.41023356G>T	ENSP00000267868:p.Val334Leu		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	p.V335L	ENST00000267868.3	37	c.1003	CCDS10062.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036189	0.75617	.	.	ENSG00000051180	ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T	0.45668	0.89;0.89;0.89	5.5	5.5	0.81552	DNA recombination and repair protein Rad51, C-terminal (1);DNA recombination/repair protein RecA, monomer-monomer interface (1);	0.000000	0.85682	D	0.000000	T	0.43478	0.1249	L	0.42744	1.35	0.80722	D	1	B;B	0.22541	0.071;0.002	B;B	0.29267	0.1;0.07	T	0.34378	-0.9831	10	0.72032	D	0.01	-15.472	19.5818	0.95469	0.0:0.0:1.0:0.0	.	335;334	Q6ZNA8;Q06609	.;RAD51_HUMAN	L	237;334;335;335	ENSP00000267868:V334L;ENSP00000433924:V335L;ENSP00000372088:V335L	ENSP00000267868:V334L	V	+	1	0	RAD51	38810648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	2.850000	0.98022	0.650000	0.86243	GTG	RAD51	-	pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	ENSG00000051180		0.468	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RAD51	HGNC	protein_coding	OTTHUMT00000252358.1		0	59	0	G	NM_002875, NM_133487		41023356	1			no_errors	ENST00000382643	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	T	T	41023356	G	T	41023356	3	4	6	1	0	0	0	0	1	0	0	0	13030	1029	36	3	1159	3	RAD51	15	41023356	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		41023356	61508036	283	1756											
GABPB1	2553	genome.wustl.edu	37	chr15	50592988	50592988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagactcgtttttctaacctGgagtttctgaagaattggac	10	15	9	7	1	2	3	0	1	2	2	3	5	2	5	1	2	1	2	1	2	4	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:50592988G>T	ENST00000220429.8	-	6	899	c.731C>A	c.(730-732)cCa>cAa	p.P244Q	GABPB1_ENST00000359031.4_Missense_Mutation_p.P232Q|GABPB1_ENST00000380877.3_Missense_Mutation_p.P232Q|GABPB1_ENST00000396464.3_Missense_Mutation_p.P232Q|GABPB1_ENST00000543881.1_Missense_Mutation_p.P168Q|GABPB1_ENST00000429662.2_Missense_Mutation_p.P244Q|GABPB1_ENST00000560825.1_Missense_Mutation_p.P232Q			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	244					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TTTCTAACCTGGAGTTTCTGA	0.453																																																	0													82	79	80					15																	50592988		2196	4295	6491	SO:0001583	missense	0			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.731C>A	15.37:g.50592988G>T	ENSP00000220429:p.Pro244Gln		A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P244Q	ENST00000220429.8	37	c.731	CCDS32239.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147577	0.77888	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T	0.66815	0.79;-0.23;-0.17;-0.23	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	N	0.22421	0.69	0.54753	D	0.999987	D;D;D;D;P	0.71674	0.995;0.99;0.963;0.998;0.936	P;P;P;D;P	0.78314	0.829;0.83;0.696;0.991;0.534	T	0.76490	-0.2940	10	0.66056	D	0.02	-16.9345	19.9403	0.97159	0.0:0.0:1.0:0.0	.	244;244;232;244;232	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	Q	232;244;168;232;244;232	ENSP00000442500:P168Q;ENSP00000379728:P232Q;ENSP00000395771:P244Q;ENSP00000351923:P232Q	ENSP00000220429:P232Q	P	-	2	0	GABPB1	48380280	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.480000	0.81109	2.712000	0.92718	0.650000	0.86243	CCA	GABPB1	-	NULL	ENSG00000104064		0.453	GABPB1-005	KNOWN	basic|CCDS	protein_coding	GABPB1	HGNC	protein_coding	OTTHUMT00000418294.1		0	22	0	G			50592988	-1			no_errors	ENST00000220429	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	50592988	G	T	50592988	3	4	6	1	0	0	0	0	1	0	0	0	6182	1348	47	3	520	3	GABPB1	15	50592988	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	9569632	50592988	51938404	284	1757											
LEO1	123169	genome.wustl.edu	37	chr15	52258480	52258480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgtcctcatggtcagAacgctcagaagcttctgatc	9	12	9	11	1	5	3	4	1	1	2	7	3	6	3	1	1	2	2	1	1	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:52258480A>G	ENST00000299601.5	-	2	340	c.280T>C	c.(280-282)Tct>Cct	p.S94P	LEO1_ENST00000315141.5_Missense_Mutation_p.S94P	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	94	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCATGGTCAGAACGCTCAGAA	0.468																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													187	170	176					15																	52258480		2195	4293	6488	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.280T>C	15.37:g.52258480A>G	ENSP00000299601:p.Ser94Pro		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.S94P	ENST00000299601.5	37	c.280	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661957	0.67700	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.59	5.59	0.84812	.	0.116385	0.64402	D	0.000011	T	0.67306	0.2879	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.986	T	0.69636	-0.5092	9	0.56958	D	0.05	.	15.771	0.78167	1.0:0.0:0.0:0.0	.	94;94	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	P	94	.	ENSP00000299601:S94P	S	-	1	0	LEO1	50045772	1.000000	0.71417	0.754000	0.31244	0.331000	0.28603	9.025000	0.93694	2.123000	0.65237	0.533000	0.62120	TCT	LEO1	-	NULL	ENSG00000166477		0.468	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	-	0	44	0	A	NM_138792		52258480	-1	tier1	-	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G	G	52258480	A	G	52258480	3	3	6	1	0	0	0	0	1	0	0	0	8754	246	9	4	1764	4	LEO1	15	52258480	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1665492	52258480	50272912	285	1758											
TLN2	83660	genome.wustl.edu	37	chr15	63004277	63004277	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatggtggaagctgcaaagGtattctactggatttgtttg	9	14	13	5	0	1	0	0	0	1	0	1	2	1	2	0	4	3	5	0	4	4	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:63004277G>C	ENST00000561311.1	+	21	2864		c.e21+1		TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCTGCAAAGGTATTCTACTG	0.443																																																	0													41	42	41					15																	63004277		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2634+1G>C	15.37:g.63004277G>C			A6NLB8	Splice_Site	SNP	-	e19+1	ENST00000561311.1	37	c.2634+1	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394514	0.83011	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLN2	60791569	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.699000	0.98703	2.861000	0.98227	0.655000	0.94253	.	TLN2	-	-	ENSG00000171914		0.443	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	31	0	G		Intron	63004277	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	splice_site	30.00	35	15	SNP	1.000	C	C	63004277	G	C	63004277	5	2	6	1	0	0	0	0	0	0	1	0	15995	1275	44	5	2709	5	TLN2	15	63004277	Splice_Site	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	10745797	63004277	39527115	286	1759											
APH1B	83464	genome.wustl.edu	37	chr15	63594591	63594591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgtattctggggcattGtattttttgatggctgtgag	6	18	13	4	0	1	2	0	2	1	0	1	2	1	2	0	3	1	5	0	3	2	7	rs200752222		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:63594591G>A	ENST00000261879.5	+	5	596	c.526G>A	c.(526-528)Gta>Ata	p.V176I	APH1B_ENST00000560716.1_3'UTR|APH1B_ENST00000380343.4_Missense_Mutation_p.V135I	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	176					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGGGGCATTGTATTTTTTGA	0.498																																																	0													308	286	293					15																	63594591		2203	4300	6503	SO:0001583	missense	0			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"anterior pharynx defective 1 homolog B (C. elegans)"			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.526G>A	15.37:g.63594591G>A	ENSP00000261879:p.Val176Ile		A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	pfam_Aph-1	p.V176I	ENST00000261879.5	37	c.526	CCDS10184.1	15	.	.	.	.	.	.	.	.	.	.	G	1.520	-0.547193	0.04024	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.38401	1.14;1.14	5.36	1.09	0.20402	.	0.299674	0.30302	N	0.009926	T	0.16214	0.0390	N	0.16233	0.39	0.28565	N	0.9109	B;B	0.15719	0.014;0.014	B;B	0.20184	0.028;0.028	T	0.34875	-0.9811	10	0.02654	T	1	-2.3603	7.4455	0.27209	0.4001:0.0:0.5998:0.0	.	135;176	Q564N3;Q8WW43	.;APH1B_HUMAN	I	135;176	ENSP00000369700:V135I;ENSP00000261879:V176I	ENSP00000261879:V176I	V	+	1	0	APH1B	61381644	0.985000	0.35326	0.017000	0.16124	0.761000	0.43186	0.881000	0.28173	0.005000	0.14708	-0.157000	0.13467	GTA	APH1B	-	pfam_Aph-1	ENSG00000138613		0.498	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APH1B	HGNC	protein_coding	OTTHUMT00000256337.1		0	29	0	G	NM_031301		63594591	1			no_errors	ENST00000261879	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.468	A	A	63594591	G	A	63594591	3	1	6	1	0	0	0	0	1	0	0	0	772	1377	48	3	544	3	APH1B	15	63594591	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	590314	63594591	38936801	287	1760											
RBPMS2	348093	genome.wustl.edu	37	chr15	65040632	65040632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctgagcgtggagggCggcggcagcggcagtggcag	6	5	20	10	4	0	1	0	1	0	0	0	2	0	2	1	6	3	4	1	6	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:65040632C>T	ENST00000300069.4	-	6	820	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	RBPMS2_ENST00000560606.1_Missense_Mutation_p.A74T	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	185							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GCGTGGAGGGCGGCGGCAGCG	0.632																																																	0																																										SO:0001583	missense	0			AY369207	CCDS32271.1	15q22.31	2014-05-15			ENSG00000166831	ENSG00000166831		"RNA binding motif (RRM) containing"	19098	protein-coding gene	gene with protein product							Standard	NM_194272		Approved		uc002anq.3	Q6ZRY4	OTTHUMG00000172423	ENST00000300069.4:c.553G>A	15.37:g.65040632C>T	ENSP00000300069:p.Ala185Thr		A2RRG0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A185T	ENST00000300069.4	37	c.553	CCDS32271.1	15	.	.	.	.	.	.	.	.	.	.	C	6.510	0.462296	0.12342	.	.	ENSG00000166831	ENST00000300069	T	0.35421	1.31	4.53	-1.65	0.08291	.	0.432896	0.25520	N	0.030108	T	0.23410	0.0566	L	0.43923	1.385	0.45066	D	0.998089	B	0.19935	0.04	B	0.10450	0.005	T	0.02646	-1.1129	10	0.44086	T	0.13	4.0796	5.3387	0.15971	0.1303:0.5409:0.0:0.3288	.	185	Q6ZRY4	RBPS2_HUMAN	T	185	ENSP00000300069:A185T	ENSP00000300069:A185T	A	-	1	0	RBPMS2	62827685	0.500000	0.26091	0.057000	0.19452	0.065000	0.16274	1.157000	0.31724	-0.379000	0.07906	0.563000	0.77884	GCC	RBPMS2	-	NULL	ENSG00000166831		0.632	RBPMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBPMS2	HGNC	protein_coding	OTTHUMT00000418466.1		0	52	0	C			65040632	-1			no_errors	ENST00000300069	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.661	T	T	65040632	C	T	65040632	3	4	6	1	0	0	0	0	1	0	0	0	13209	768	27	1	84	1	RBPMS2	15	65040632	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1446041	65040632	37490760	288	1761											
RASL12	51285	genome.wustl.edu	37	chr15	65347312	65347312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccgggatgacttcacGgtgaccagcttggcctgggc	5	8	16	12	2	1	2	1	2	0	0	1	3	1	3	3	5	1	1	3	5	0	2	rs143172698		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:65347312G>A	ENST00000220062.4	-	5	1002	c.726C>T	c.(724-726)acC>acT	p.T242T	RASL12_ENST00000434605.2_Silent_p.T231T|RASL12_ENST00000421977.3_Silent_p.T223T	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	242					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						ATGACTTCACGGTGACCAGCT	0.642											OREG0023189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	8e-04	0	5008	,	,		18730	0		0	False		,,,				2504	0																0								A		13,4391	21.2+/-45.6	0,13,2189	45	43	43		726	-10.5	0.2	15	dbSNP_134	43	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	RASL12	NM_016563.2		0,14,6487	AA,AG,GG		0.0116,0.2952,0.1077		242/267	65347312	14,12988	2202	4299	6501	SO:0001819	synonymous_variant	0			AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"Ras family member Ris"					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.726C>T	15.37:g.65347312G>A		1083	B2RC29|B4DJW2|B4DU82	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T242	ENST00000220062.4	37	c.726	CCDS10200.1	15																																																																																			RASL12	-	NULL	ENSG00000103710		0.642	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL12	HGNC	protein_coding	OTTHUMT00000256782.2	-	0	35	0	G	NM_016563		65347312	-1	tier1	rs143172698	no_errors	ENST00000220062	ensembl	human	known	74_37	silent	42.86	36	27	SNP	0.011	A	A	65347312	G	A	65347312	2	1	6	1	0	0	0	0	0	0	0	1	13128	1103	39	1		1	RASL12	15	65347312	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	306680	65347312	37184080	289	1762											
CCDC33	80125	genome.wustl.edu	37	chr15	74623044	74623044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgagtgagctggatatGaagaaactgagggacagggt	12	8	16	5	0	0	5	0	4	0	1	0	7	0	7	0	3	3	2	0	3	3	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:74623044G>C	ENST00000398814.3	+	13	1928	c.1497G>C	c.(1495-1497)atG>atC	p.M499I	CCDC33_ENST00000321288.5_Missense_Mutation_p.M702I|CCDC33_ENST00000268082.4_Missense_Mutation_p.M92I|CCDC33_ENST00000558821.1_Missense_Mutation_p.M92I	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	702										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGCTGGATATGAAGAAACTGA	0.562																																																	0													82	83	83					15																	74623044		1995	4181	6176	SO:0001583	missense	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1497G>C	15.37:g.74623044G>C	ENSP00000381795:p.Met499Ile		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.M702I	ENST00000398814.3	37	c.2106	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	G	4.758	0.141007	0.09083	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.34667	1.35;2.28;1.94;1.93	4.51	2.47	0.30058	.	0.583788	0.18481	N	0.139928	T	0.33440	0.0863	M	0.70595	2.14	0.09310	N	1	B;B;B;B	0.12630	0.004;0.006;0.005;0.002	B;B;B;B	0.13407	0.009;0.007;0.002;0.003	T	0.22312	-1.0220	10	0.35671	T	0.21	.	6.8055	0.23774	0.1006:0.1786:0.7208:0.0	.	92;92;702;499	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	I	702;499;92;92	ENSP00000325012:M702I;ENSP00000381795:M499I;ENSP00000325661:M92I;ENSP00000268082:M92I	ENSP00000268082:M92I	M	+	3	0	CCDC33	72410097	0.095000	0.21747	0.735000	0.30896	0.489000	0.33432	0.989000	0.29629	0.900000	0.36469	-0.397000	0.06425	ATG	CCDC33	-	NULL	ENSG00000140481		0.562	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2	-	0	36	0	G	NM_182791		74623044	1	tier1	-	no_errors	ENST00000321288	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.117	C	C	74623044	G	C	74623044	3	2	6	1	0	0	0	0	1	0	0	0	2813	1290	45	5	1620	5	CCDC33	15	74623044	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	9275732	74623044	27908348	290	1763											
IDH3A	3419	genome.wustl.edu	37	chr15	78458517	78458517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggacggctccagacattgCaggcaaggacatggcgaatc	11	6	14	10	2	0	1	0	0	0	1	2	4	1	3	1	5	1	3	1	5	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:78458517C>T	ENST00000299518.2	+	10	973	c.890C>T	c.(889-891)gCa>gTa	p.A297V	IDH3A_ENST00000561366.1_Nonsense_Mutation_p.Q31*|IDH3A_ENST00000558554.1_Missense_Mutation_p.A262V|IDH3A_ENST00000441490.2_Missense_Mutation_p.A188V|IDH3A_ENST00000559205.1_Missense_Mutation_p.A18V|IDH3A_ENST00000558535.1_3'UTR	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	297					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CCAGACATTGCAGGCAAGGAC	0.532																																																	0													155	135	141					15																	78458517		2196	4293	6489	SO:0001583	missense	0				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"H-IDH alpha", "isocitric dehydrogenase", "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial", "NAD+-specific ICDH", "NAD(H)-specific isocitrate dehydrogenase alpha subunit", "isocitrate dehydrogenase (NAD+) alpha chain"	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.890C>T	15.37:g.78458517C>T	ENSP00000299518:p.Ala297Val		D3DW83|Q9H3X0	Nonsense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom	p.Q31*	ENST00000299518.2	37	c.91	CCDS10297.1	15	.	.	.	.	.	.	.	.	.	.	C	19.37	3.813682	0.70912	.	.	ENSG00000166411	ENST00000299518;ENST00000441490	T;T	0.74737	-0.87;-0.87	5.7	4.78	0.61160	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86797	0.6019	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;0.975;0.975	D;P;P	0.97110	1.0;0.469;0.712	D	0.88367	0.2992	10	0.72032	D	0.01	-19.5155	14.2079	0.65746	0.0:0.9271:0.0:0.0729	.	262;247;297	B4DSY4;B4DJB4;P50213	.;.;IDH3A_HUMAN	V	297;188	ENSP00000299518:A297V;ENSP00000387506:A188V	ENSP00000299518:A297V	A	+	2	0	IDH3A	76245572	1.000000	0.71417	0.170000	0.22879	0.696000	0.40369	6.011000	0.70760	2.681000	0.91329	0.655000	0.94253	GCA	IDH3A	-	NULL	ENSG00000166411		0.532	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	HGNC	protein_coding	OTTHUMT00000289799.4	-	0	42	0	C	NM_005530		78458517	1	tier1	-	no_errors	ENST00000561366	ensembl	human	putative	74_37	nonsense	6.35	59	4	SNP	0.998	T	T	78458517	C	T	78458517	3	4	6	1	0	0	0	0	1	0	0	0	7523	710	25	3	928	3	IDH3A	15	78458517	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3835473	78458517	24072875	291	1764											
MEX3B	84206	genome.wustl.edu	37	chr15	82335721	82335721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagagctggaggaggagctgGacgaagaggaggagcccgac	13	2	19	7	2	0	2	0	0	0	2	0	10	0	8	1	6	3	2	1	6	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:82335721G>C	ENST00000329713.4	-	2	1925	c.1490C>G	c.(1489-1491)tCc>tGc	p.S497C	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	497					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ggaggagctggacgaagagga	0.667																																																	0													46	43	44					15																	82335721		2203	4300	6503	SO:0001583	missense	0			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1490C>G	15.37:g.82335721G>C	ENSP00000329918:p.Ser497Cys		Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.S497C	ENST00000329713.4	37	c.1490	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208847	0.58343	.	.	ENSG00000183496	ENST00000329713	T	0.26373	1.74	4.5	4.5	0.54988	.	0.172537	0.38605	N	0.001635	T	0.40222	0.1108	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.23691	-1.0181	10	0.56958	D	0.05	-13.6184	16.1323	0.81449	0.0:0.0:1.0:0.0	.	497	Q6ZN04	MEX3B_HUMAN	C	497	ENSP00000329918:S497C	ENSP00000329918:S497C	S	-	2	0	MEX3B	80122776	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.266000	0.51569	2.333000	0.79357	0.561000	0.74099	TCC	MEX3B	-	NULL	ENSG00000183496		0.667	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1	-	0	37	0	G	XM_290645		82335721	-1	tier1	-	no_errors	ENST00000329713	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	C	C	82335721	G	C	82335721	3	2	6	1	0	0	0	0	1	0	0	0	9548	1174	41	5	223	5	MEX3B	15	82335721	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3877204	82335721	20195671	292	1765											
NGRN	51335	genome.wustl.edu	37	chr15	90814633	90814633	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaatacctcaaagctgctCcctgcaggccactctgtatc	10	9	8	14	0	2	0	1	0	1	0	4	1	3	1	3	2	4	4	3	2	4	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr15:90814633C>A	ENST00000379095.3	+	3	497	c.489C>A	c.(487-489)ctC>ctA	p.L163L	RP11-697E2.6_ENST00000561573.1_3'UTR|NGRN_ENST00000331497.3_3'UTR	NM_001033088.1	NP_001028260.2	Q9NPE2	NGRN_HUMAN	neugrin, neurite outgrowth associated	163					neuron differentiation (GO:0030182)	extracellular region (GO:0005576)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CAAAGCTGCTCCCTGCAGGCC	0.517																																																	0													42	46	45					15																	90814633		2199	4298	6497	SO:0001819	synonymous_variant	0			AB029315	CCDS32329.1	15q26.1	2008-02-05			ENSG00000182768	ENSG00000182768			18077	protein-coding gene	gene with protein product						11118320	Standard	NR_028052		Approved	DSC92	uc002bpf.1	Q9NPE2	OTTHUMG00000149807	ENST00000379095.3:c.489C>A	15.37:g.90814633C>A			B2R6M8|Q4V9L7|Q9HBL4	Silent	SNP	pfam_Neugrin-related	p.L163	ENST00000379095.3	37	c.489	CCDS32329.1	15																																																																																			NGRN	-	pfam_Neugrin-related	ENSG00000182768		0.517	NGRN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NGRN	HGNC	protein_coding	OTTHUMT00000313418.1		0	32	0	C			90814633	1			no_errors	ENST00000379095	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	A	A	90814633	C	A	90814633	2	1	6	1	0	0	0	0	0	0	0	1	10438	842	30	3		3	NGRN	15	90814633	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	8478912	90814633	11716759	293	1766											
CLCN7	1186	genome.wustl.edu	37	chr16	1515268	1515268	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaacacccccaactcacCgggtccaaaagttcatcatc	12	6	8	15	1	3	0	3	0	0	0	5	1	4	1	4	3	2	1	4	3	4	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr16:1515268C>A	ENST00000382745.4	-	2	818	c.213G>T	c.(211-213)ccG>ccT	p.P71P	CLCN7_ENST00000262318.8_Intron|CLCN7_ENST00000448525.1_Intron|CLCN7_ENST00000566812.1_5'Flank|LA16c-390E6.3_ENST00000563223.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	71					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CCCAACTCACCGGGTCCAAAA	0.587																																																	0													112	76	89					16																	1515268		2199	4300	6499	SO:0001630	splice_region_variant	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.213+1G>T	16.37:g.1515268C>A			A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.P71	ENST00000382745.4	37	c.213	CCDS32361.1	16																																																																																			CLCN7	-	NULL	ENSG00000103249		0.587	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0	20	0	C	NM_001287	Silent	1515268	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	silent	20.00	12	3	SNP	1.000	A	A	1515268	C	A	1515268	5	1	6	1	0	0	0	0	0	0	1	0	3475	666	23	2	2300	2	CLCN7	16	1515268	Splice_Site	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09		1515268	88839485	294	1767											
TELO2	9894	genome.wustl.edu	37	chr16	1550701	1550701	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcctcccctgaaattccagGtgagcgggccgtcccctccg	5	7	12	17	3	0	2	0	2	0	0	4	2	4	2	8	3	1	0	8	3	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr16:1550701G>T	ENST00000262319.6	+	9	1560		c.e9+1			NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2						regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GAAATTCCAGGTGAGCGGGCC	0.716																																																	0													30	36	34					16																	1550701		2199	4298	6497	SO:0001630	splice_region_variant	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1281+1G>T	16.37:g.1550701G>T			D3DU73|O75168|Q7LDV4|Q9BR21	Splice_Site	SNP	-	e8+1	ENST00000262319.6	37	c.1281+1	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	g	13.34	2.207307	0.39003	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9556	0.86258	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TELO2	1490702	1.000000	0.71417	0.998000	0.56505	0.299000	0.27559	8.129000	0.89597	2.299000	0.77371	0.651000	0.88453	.	TELO2	-	-	ENSG00000100726		0.716	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	-	0	13	0	G	NM_016111	Intron	1550701	1	tier1	-	no_errors	ENST00000262319	ensembl	human	known	74_37	splice_site	23.53	13	4	SNP	1.000	T	T	1550701	G	T	1550701	5	4	6	1	0	0	0	0	0	0	1	0	15804	1275	44	3	1312	3	TELO2	16	1550701	Splice_Site	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	35433	1550701	88804052	295	1768											
NOMO3	408050	genome.wustl.edu	37	chr16	16339001	16339001	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggaccgaagcaaagaTccagtccacagttacacagc	14	5	9	13	1	0	1	0	0	0	1	2	3	2	2	3	1	3	2	3	1	3	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr16:16339001T>A	ENST00000399336.4	+	5	651	c.479T>A	c.(478-480)aTc>aAc	p.I160N	NOMO3_ENST00000538468.1_Intron|NOMO3_ENST00000263012.6_Missense_Mutation_p.I160N	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	160						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GAAGCAAAGATCCAGTCCACA	0.567																																																	0													2	3	3					16																	16339001		1604	3765	5369	SO:0001583	missense	0			AK125530	CCDS42123.1	16p13	2004-11-24				ENSG00000103226			25242	protein-coding gene	gene with protein product		609159				15257293	Standard	NM_001004067		Approved		uc002deq.3	P69849	OTTHUMG00000170525	ENST00000399336.4:c.479T>A	16.37:g.16339001T>A	ENSP00000382274:p.Ile160Asn			Missense_Mutation	SNP	pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom	p.I160N	ENST00000399336.4	37	c.479	CCDS42123.1	16	.	.	.	.	.	.	.	.	.	.	.	13.76	2.333367	0.41297	.	.	ENSG00000103226	ENST00000263012;ENST00000399336	T;T	0.41065	1.01;1.01	3.33	3.33	0.38152	Carboxypeptidase-like, regulatory domain (1);Immunoglobulin-like fold (1);	0.161832	0.39834	N	0.001258	T	0.34600	0.0903	L	0.52126	1.63	0.80722	D	1	B;P	0.36315	0.051;0.547	B;B	0.34301	0.048;0.179	T	0.13388	-1.0511	10	0.28530	T	0.3	-23.9278	12.0605	0.53561	0.0:0.0:0.0:1.0	.	160;160	P69849;Q5JPE7-2	NOMO3_HUMAN;.	N	160	ENSP00000263012:I160N;ENSP00000382274:I160N	ENSP00000263012:I160N	I	+	2	0	NOMO3	16246502	1.000000	0.71417	0.999000	0.59377	0.666000	0.39218	7.393000	0.79851	1.308000	0.44962	0.156000	0.16432	ATC	NOMO3	-	superfamily_CarboxyPept-like_regulatory	ENSG00000103226		0.567	NOMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOMO3	HGNC	protein_coding	OTTHUMT00000409528.13	-	0	21	0	T	NM_001004067		16339001	1	tier1	-	no_errors	ENST00000399336	ensembl	human	known	74_37	missense	25.00	6	2	SNP	0.976	A	A	16339001	T	A	16339001	3	1	6	1	0	0	0	0	1	0	0	0	10572	1435	50	5	497	5	NOMO3	16	16339001	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	14788300	16339001	74015752	296	1769											
TMC7	79905	genome.wustl.edu	37	chr16	19041668	19041668	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcgcctccctggccctGagccttctttggatagtgaa	8	11	9	13	1	1	2	0	2	1	0	3	3	2	3	4	2	1	0	4	2	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr16:19041668G>T	ENST00000304381.5	+	6	964	c.834G>T	c.(832-834)ctG>ctT	p.L278L	TMC7_ENST00000421369.3_Silent_p.L168L|TMC7_ENST00000569532.1_Silent_p.L278L	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	278					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCCTGGCCCTGAGCCTTCTTT	0.473																																																	0													92	82	85					16																	19041668		2197	4300	6497	SO:0001819	synonymous_variant	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.834G>T	16.37:g.19041668G>T			E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Silent	SNP	pfam_TMC	p.L278	ENST00000304381.5	37	c.834	CCDS10573.1	16																																																																																			TMC7	-	NULL	ENSG00000170537		0.473	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3		0	26	0	G	NM_024847		19041668	1			no_errors	ENST00000304381	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	T	T	19041668	G	T	19041668	2	4	6	1	0	0	0	0	0	0	0	1	16037	1277	45	3		3	TMC7	16	19041668	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2702667	19041668	71313085	297	1770											
ACSM2A	123876	genome.wustl.edu	37	chr16	20480934	20480934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgttgctggggatgaagtCatccaagaagtggacacagt	12	10	13	6	0	1	2	1	1	0	1	2	4	2	4	1	3	1	2	1	3	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr16:20480934C>T	ENST00000573854.1	+	4	603	c.489C>T	c.(487-489)gtC>gtT	p.V163V	ACSM2A_ENST00000219054.6_Silent_p.V163V|ACSM2A_ENST00000424070.1_Silent_p.V163V|ACSM2A_ENST00000417235.2_Silent_p.V84V|ACSM2A_ENST00000575690.1_Silent_p.V163V|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.V163V|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	163					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGGATGAAGTCATCCAAGAAG	0.453																																																	0													67	67	67					16																	20480934		2203	4295	6498	SO:0001819	synonymous_variant	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.489C>T	16.37:g.20480934C>T			B3KTT9|O75202	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.V163	ENST00000573854.1	37	c.489	CCDS32401.1	16																																																																																			ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.453	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	-	0	71	0	C	NM_001010845		20480934	1	tier1	-	no_errors	ENST00000219054	ensembl	human	known	74_37	silent	32.31	44	21	SNP	0.350	T	T	20480934	C	T	20480934	2	4	6	1	0	0	0	0	0	0	0	1	183	813	29	3		3	ACSM2A	16	20480934	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1439266	20480934	69873819	298	1771											
DNAH3	55567	genome.wustl.edu	37	chr16	21073867	21073867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttttccgagctgatcatgCccacaatttccagattgtct	8	15	6	12	1	2	2	1	1	1	1	4	3	4	2	3	0	2	1	3	0	1	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr16:21073867C>T	ENST00000261383.3	-	25	3655	c.3656G>A	c.(3655-3657)gGc>gAc	p.G1219D	DNAH3_ENST00000415178.1_Missense_Mutation_p.G1219D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1219	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGATCATGCCCACAATTTC	0.443																																																	0													155	144	147					16																	21073867		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3656G>A	16.37:g.21073867C>T	ENSP00000261383:p.Gly1219Asp		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.G1219D	ENST00000261383.3	37	c.3656	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369770	0.82573	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.63580	-0.05;-0.05	5.9	5.9	0.94986	Dynein heavy chain, domain-2 (1);	0.060791	0.64402	D	0.000004	D	0.84183	0.5416	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85978	0.1481	10	0.66056	D	0.02	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	1219	Q8TD57	DYH3_HUMAN	D	1219	ENSP00000261383:G1219D;ENSP00000394245:G1219D	ENSP00000261383:G1219D	G	-	2	0	DNAH3	20981368	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	5.786000	0.69006	2.797000	0.96272	0.655000	0.94253	GGC	DNAH3	-	pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase	ENSG00000158486		0.443	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	38	0	C	NM_017539		21073867	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	21073867	C	T	21073867	3	4	6	1	0	0	0	0	1	0	0	0	4617	739	26	3	8845	3	DNAH3	16	21073867	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	592933	21073867	69280886	299	1772											
TBX6	6911	genome.wustl.edu	37	chr16	30100109	30100109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggctgcagagctgggctgCccgaactaggtgtatgcggg	6	8	17	10	2	0	1	0	0	0	1	0	2	0	1	1	4	5	5	1	4	3	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr16:30100109C>T	ENST00000395224.2	-	5	732	c.673G>A	c.(673-675)Gca>Aca	p.A225T	TBX6_ENST00000553607.1_Missense_Mutation_p.A225T|TBX6_ENST00000279386.2_Missense_Mutation_p.A225T	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	225					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGCTGGGCTGCCCGAACTAGG	0.617																																																	0													99	106	104					16																	30100109		2197	4300	6497	SO:0001583	missense	0			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"T-boxes"	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.673G>A	16.37:g.30100109C>T	ENSP00000378650:p.Ala225Thr		Q8TAS4|Q9HA44	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.A225T	ENST00000395224.2	37	c.673	CCDS10670.1	16	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041909	0.93685	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.89552	-2.53;-2.53;-2.53	6.04	6.04	0.98038	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87176	0.6112	N	0.16166	0.38	0.80722	D	1	D;D	0.63046	0.992;0.977	P;P	0.53760	0.734;0.651	D	0.87152	0.2209	10	0.40728	T	0.16	.	19.3663	0.94464	0.0:1.0:0.0:0.0	.	225;225	O95947;Q9HA44	TBX6_HUMAN;.	T	225	ENSP00000378650:A225T;ENSP00000279386:A225T;ENSP00000461223:A225T	ENSP00000279386:A225T	A	-	1	0	TBX6	30007610	1.000000	0.71417	0.994000	0.49952	0.883000	0.51084	4.937000	0.63513	2.873000	0.98535	0.563000	0.77884	GCA	TBX6	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury	ENSG00000149922		0.617	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX6	HGNC	protein_coding	OTTHUMT00000255157.2		0	43	0	C	NM_004608, NM_080758		30100109	-1			no_errors	ENST00000279386	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	30100109	C	T	30100109	3	4	6	1	0	0	0	0	1	0	0	0	15709	739	26	3	657	3	TBX6	16	30100109	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	9026242	30100109	60254644	300	1773											
TP53	7157	genome.wustl.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3	rs397516435		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R196*	ENST00000269305.4	37	c.586	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	38	0	G	NM_000546		7578263	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	27.08	33	13	SNP	1.000	A	A	7578263	G	A	7578263	4	1	6	1	0	0	0	0	0	1	0	0	16429	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		7578263	73616947	301	1774											
TEKT3	64518	genome.wustl.edu	37	chr17	15222427	15222427	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagccttatccaaatgtagcTtcattctttcttgacaacac	11	15	4	11	0	3	1	1	1	2	0	4	1	4	1	2	0	3	2	2	0	5	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:15222427T>A	ENST00000395930.1	-	5	887	c.701A>T	c.(700-702)aAg>aTg	p.K234M	TEKT3_ENST00000338696.2_Missense_Mutation_p.K234M	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	234					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K234R(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CAAATGTAGCTTCATTCTTTC	0.308																																																	1	Substitution - Missense(1)	kidney(1)											127	125	126					17																	15222427		2203	4298	6501	SO:0001583	missense	0			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.701A>T	17.37:g.15222427T>A	ENSP00000379263:p.Lys234Met		B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.K234M	ENST00000395930.1	37	c.701	CCDS11169.1	17	.	.	.	.	.	.	.	.	.	.	t	15.10	2.733249	0.48939	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02916	4.11;4.11;4.11	5.58	2.03	0.26663	.	0.224771	0.51477	D	0.000084	T	0.06142	0.0159	L	0.52573	1.65	0.30026	N	0.813896	B	0.26120	0.142	B	0.43990	0.438	T	0.07028	-1.0794	10	0.52906	T	0.07	-1.9112	7.6523	0.28354	0.0:0.4788:0.0:0.5212	.	234	Q9BXF9	TEKT3_HUMAN	M	234;234;68	ENSP00000379263:K234M;ENSP00000343995:K234M;ENSP00000443280:K68M	ENSP00000343995:K234M	K	-	2	0	TEKT3	15163152	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.059000	0.41384	0.423000	0.26033	-0.263000	0.10527	AAG	TEKT3	-	pfam_Tektin	ENSG00000125409		0.308	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	HGNC	protein_coding	OTTHUMT00000130385.2		0	39	0	T	NM_031898		15222427	-1			no_errors	ENST00000338696	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	15222427	T	A	15222427	3	1	6	1	0	0	0	0	1	0	0	0	15801	1609	56	5	791	5	TEKT3	17	15222427	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	7644164	15222427	65972783	302	1775											
TBC1D26	353149	genome.wustl.edu	37	chr17	15644474	15644474	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgagccgcatcactgcCatcctcctcctgtgtctgcc	5	10	8	18	1	2	1	1	1	1	0	5	2	5	1	7	0	3	1	7	0	0	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:15644474C>A	ENST00000437605.2	+	10	835	c.585C>A	c.(583-585)gcC>gcA	p.A195A	AC005324.6_ENST00000433873.1_RNA|AC005324.6_ENST00000580194.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	195	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GCATCACTGCCATCCTCCTCC	0.617																																																	0													83	90	88					17																	15644474		2199	4299	6498	SO:0001819	synonymous_variant	0				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.585C>A	17.37:g.15644474C>A			A8K929|Q4G172	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A195	ENST00000437605.2	37	c.585	CCDS42265.1	17																																																																																			TBC1D26	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000214946		0.617	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding		-	0	55	0	C	NM_178571		15644474	1	tier1	-	no_errors	ENST00000437605	ensembl	human	known	74_37	silent	16.67	40	8	SNP	0.049	A	A	15644474	C	A	15644474	2	1	6	1	0	0	0	0	0	0	0	1	15663	581	21	3		3	TBC1D26	17	15644474	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	422047	15644474	65550736	303	1776											
OMG	4974	genome.wustl.edu	37	chr17	29622574	29622574	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatgttcctttaaagatGatatttgggtagaacatgga	12	16	10	3	0	0	3	0	1	0	2	1	4	1	4	1	2	1	3	1	2	6	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:29622574G>T	ENST00000247271.4	-	2	1037	c.776C>A	c.(775-777)tCa>tAa	p.S259*	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	259					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		CTTTAAAGATGATATTTGGGT	0.408																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											163	139	147					17																	29622574		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.776C>A	17.37:g.29622574G>T	ENSP00000247271:p.Ser259*		E1P659	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.S259*	ENST00000247271.4	37	c.776	CCDS11265.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902755	0.92035	.	.	ENSG00000126861	ENST00000247271	.	.	.	5.54	5.54	0.83059	.	0.160293	0.29638	N	0.011585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-6.8468	15.358	0.74443	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000247271:S259X	S	-	2	0	OMG	26646700	0.938000	0.31826	1.000000	0.80357	0.997000	0.91878	-0.238000	0.08977	2.776000	0.95493	0.650000	0.86243	TCA	OMG	-	NULL	ENSG00000126861		0.408	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	HGNC	protein_coding	OTTHUMT00000256350.2	-	0	57	0	G	NM_002544		29622574	-1	tier1	-	no_errors	ENST00000247271	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	29622574	G	T	29622574	4	4	6	1	0	0	0	0	0	1	0	0	10905	1294	45	3	550	3	OMG	17	29622574	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	13978100	29622574	51572636	304	1777											
CCL8	6355	genome.wustl.edu	37	chr17	32646540	32646540	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaaggtttctgcagcgcTtctgtgcctgctgctcatgg	5	13	13	10	1	3	1	1	1	2	0	3	2	3	1	1	2	5	5	1	2	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:32646540T>G	ENST00000394620.1	+	1	486	c.20T>G	c.(19-21)cTt>cGt	p.L7R		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	7					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TCTGCAGCGCTTCTGTGCCTG	0.532																																																	0													76	69	72					17																	32646540		2203	4300	6503	SO:0001583	missense	0			X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"Chemokine ligands", "Endogenous ligands"	10635	protein-coding gene	gene with protein product		602283	"small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.20T>G	17.37:g.32646540T>G	ENSP00000378118:p.Leu7Arg		A0AV77|P78388	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.L7R	ENST00000394620.1	37	c.20	CCDS11280.1	17	.	.	.	.	.	.	.	.	.	.	T	14.20	2.463823	0.43736	.	.	ENSG00000108700	ENST00000394620;ENST00000225840	.	.	.	4.75	2.35	0.29111	.	1.083250	0.07343	N	0.881106	T	0.64778	0.2629	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.47222	-0.9134	8	0.87932	D	0	.	8.8489	0.35188	0.0:0.0:0.3708:0.6292	.	7	P80075	CCL8_HUMAN	R	17;7	.	ENSP00000225840:L7R	L	+	2	0	CCL8	29670653	0.138000	0.22547	0.001000	0.08648	0.008000	0.06430	2.114000	0.41911	0.215000	0.20761	0.533000	0.62120	CTT	CCL8	-	NULL	ENSG00000108700		0.532	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CCL8	HGNC	protein_coding	OTTHUMT00000256376.2	-	0	27	0	T	NM_005623		32646540	1	tier1	-	no_errors	ENST00000394620	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.000	G	G	32646540	T	G	32646540	3	3	6	1	0	0	0	0	1	0	0	0	2914	1609	56	4	22	4	CCL8	17	32646540	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3023966	32646540	48548670	305	1778											
PSMB3	5691	genome.wustl.edu	37	chr17	36916828	36916828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgcgccgaacaaatgtaCggaatgtgtgagtccctctg	10	9	11	11	3	1	1	0	1	1	0	2	3	2	2	3	1	3	1	3	1	4	1	rs572205029		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:36916828C>T	ENST00000225426.4	+	4	532	c.441C>T	c.(439-441)taC>taT	p.Y147Y		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	147					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)	p.Y147Y(1)		endometrium(2)|large_intestine(1)|lung(1)	4						AACAAATGTACGGAATGTGTG	0.537													c|||	1	0.000199681	0	0	5008	,	,		20145	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	endometrium(1)											81	67	72					17																	36916828		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.441C>T	17.37:g.36916828C>T			P31147|Q0P6J7|Q96E27	Silent	SNP	pfam_Proteasome_sua/b	p.Y147	ENST00000225426.4	37	c.441	CCDS11328.1	17																																																																																			PSMB3	-	pfam_Proteasome_sua/b	ENSG00000108294		0.537	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	HGNC	protein_coding	OTTHUMT00000256810.2		0	30	0	C	NM_002795		36916828	1			no_errors	ENST00000225426	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.996	T	T	36916828	C	T	36916828	2	4	6	1	0	0	0	0	0	0	0	1	12720	547	19	1		1	PSMB3	17	36916828	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4270288	36916828	44278382	306	1779											
TOP2A	7153	genome.wustl.edu	37	chr17	38567944	38567944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaatttgctgaaagccttTttcactcatagttaaacaca	13	14	5	9	0	2	1	2	1	0	0	2	1	2	1	1	0	3	3	1	0	5	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:38567944T>C	ENST00000423485.1	-	8	1074	c.916A>G	c.(916-918)Aaa>Gaa	p.K306E		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGAAAGCCTTTTTCACTCATA	0.323																																																	0													118	110	113					17																	38567944		1848	4088	5936	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.916A>G	17.37:g.38567944T>C	ENSP00000411532:p.Lys306Glu		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.K306E	ENST00000423485.1	37	c.916	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404274	0.62288	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22945	1.93	5.59	5.59	0.84812	Ribosomal protein S5 domain 2-type fold (1);DNA topoisomerase, type IIA, subunit B, domain 2 (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.048068	0.85682	D	0.000000	T	0.20941	0.0504	L	0.37507	1.11	0.58432	D	0.999997	B	0.06786	0.001	B	0.09377	0.004	T	0.06588	-1.0818	10	0.11794	T	0.64	.	15.7667	0.78131	0.0:0.0:0.0:1.0	.	306	P11388	TOP2A_HUMAN	E	306;305;305;308	ENSP00000411532:K306E	ENSP00000269577:K305E	K	-	1	0	TOP2A	35821470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.963000	0.87922	2.138000	0.66242	0.528000	0.53228	AAA	TOP2A	-	pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	ENSG00000131747		0.323	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1		0	38	0	T			38567944	-1			no_errors	ENST00000423485	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	C	C	38567944	T	C	38567944	3	2	6	1	0	0	0	0	1	0	0	0	16413	1850	64	4	3791	4	TOP2A	17	38567944	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1651116	38567944	42627266	307	1780											
EFTUD2	9343	genome.wustl.edu	37	chr17	42964094	42964094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtcatgatctcctacgtCatcgtcgtcgtcatcatcat	8	14	6	13	5	6	1	5	1	1	0	11	1	6	1	1	0	1	0	1	0	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:42964094C>T	ENST00000426333.2	-	3	427	c.130G>A	c.(130-132)Gac>Aac	p.D44N	EFTUD2_ENST00000591382.1_Missense_Mutation_p.D44N|EFTUD2_ENST00000402521.3_Missense_Mutation_p.D9N|EFTUD2_ENST00000592576.1_Missense_Mutation_p.D44N|EFTUD2_ENST00000589211.1_5'UTR|RN7SL405P_ENST00000582502.1_RNA	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	44					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				tctcctacgtcatcgtcgtcg	0.522																																					Ovarian(10;65 485 10258 29980 30707)												0													153	98	116					17																	42964094		2203	4300	6503	SO:0001583	missense	0			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 116 kD"	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.130G>A	17.37:g.42964094C>T	ENSP00000392094:p.Asp44Asn		B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.D44N	ENST00000426333.2	37	c.130	CCDS11489.1	17	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407550	0.62399	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.72505	-0.52;-0.66	6.11	6.11	0.99139	.	0.204155	0.49916	D	0.000122	T	0.64091	0.2567	L	0.46885	1.475	0.58432	D	0.999999	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.56378	-0.7989	10	0.21014	T	0.42	-11.9682	15.4518	0.75279	0.1387:0.8613:0.0:0.0	.	44;44	B4DMC0;Q15029	.;U5S1_HUMAN	N	44;44;9	ENSP00000392094:D44N;ENSP00000385873:D9N	ENSP00000262414:D44N	D	-	1	0	EFTUD2	40319620	1.000000	0.71417	0.958000	0.39756	0.643000	0.38383	5.570000	0.67398	2.906000	0.99361	0.655000	0.94253	GAC	EFTUD2	-	NULL	ENSG00000108883		0.522	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD2	HGNC	protein_coding	OTTHUMT00000448672.1	-	0	31	0	C	NM_004247		42964094	-1	tier1	-	no_errors	ENST00000426333	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	T	T	42964094	C	T	42964094	3	4	6	1	0	0	0	0	1	0	0	0	4975	826	29	3	2892	3	EFTUD2	17	42964094	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4396150	42964094	38231116	308	1781											
CACNA1G	8913	genome.wustl.edu	37	chr17	48649272	48649272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcacgttgctgctggataCgctgcccatgctgggcaacg	6	10	13	12	3	1	0	1	0	0	0	1	1	1	1	1	2	6	6	1	2	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:48649272C>T	ENST00000359106.5	+	5	620	c.620C>T	c.(619-621)aCg>aTg	p.T207M	CACNA1G_ENST00000515165.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000515765.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000507896.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000507336.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000354983.4_Missense_Mutation_p.T207M|CACNA1G_ENST00000515411.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000416767.4_Missense_Mutation_p.T207M|CACNA1G_ENST00000514717.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000429973.2_Missense_Mutation_p.T207M|CACNA1G_ENST00000514181.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000512389.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000442258.2_Missense_Mutation_p.T207M|CACNA1G_ENST00000513964.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000510366.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000503485.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000502264.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000507510.2_Missense_Mutation_p.T207M|CACNA1G_ENST00000505165.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000514079.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000510115.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000352832.5_Missense_Mutation_p.T207M|CACNA1G_ENST00000507609.1_Missense_Mutation_p.T207M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.T207M|CACNA1G_ENST00000358244.5_Missense_Mutation_p.T207M|CACNA1G_ENST00000360761.4_Missense_Mutation_p.T207M	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	207					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCTGGATACGCTGCCCATG	0.652																																																	0													97	99	98					17																	48649272		2162	4259	6421	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.620C>T	17.37:g.48649272C>T	ENSP00000352011:p.Thr207Met		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.T207M	ENST00000359106.5	37	c.620	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	22.2	4.256730	0.80246	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93;-4.93	4.45	4.45	0.53987	Ion transport (1);	0.128498	0.56097	D	0.000026	D	0.99105	0.9692	M	0.90019	3.08	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.998;1.0;0.998;0.999;1.0;0.999;0.997;0.998;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;0.999;0.999;1.0;0.998;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.954;0.975;0.953;0.999;0.954;0.939;0.999;0.977;0.939;0.938;0.97;0.961;0.989;0.982;0.97;0.964;0.982;0.999;0.982;0.975;0.938;0.977;0.945;0.973;0.999;0.968	D	0.99357	1.0916	10	0.87932	D	0	.	17.6318	0.88111	0.0:1.0:0.0:0.0	.	207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207;207	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	M	207	ENSP00000353990:T207M;ENSP00000339302:T207M;ENSP00000392390:T207M;ENSP00000347078:T207M;ENSP00000409759:T207M;ENSP00000425522:T207M;ENSP00000426261:T207M;ENSP00000425451:T207M;ENSP00000422407:T207M;ENSP00000426814:T207M;ENSP00000427238:T207M;ENSP00000423112:T207M;ENSP00000420918:T207M;ENSP00000426172:T207M;ENSP00000423045:T207M;ENSP00000427173:T207M;ENSP00000426098:T207M;ENSP00000425698:T207M;ENSP00000426232:T207M;ENSP00000423317:T207M;ENSP00000350979:T207M;ENSP00000352011:T207M;ENSP00000414388:T207M;ENSP00000423155:T207M;ENSP00000422268:T207M;ENSP00000421518:T207M	ENSP00000339302:T207M	T	+	2	0	CACNA1G	46004271	1.000000	0.71417	0.960000	0.40013	0.710000	0.40934	7.278000	0.78587	2.464000	0.83262	0.505000	0.49811	ACG	CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1		0	34	0	C	NM_018896		48649272	1			no_errors	ENST00000359106	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	48649272	C	T	48649272	3	4	6	1	0	0	0	0	1	0	0	0	2551	536	19	1	638	1	CACNA1G	17	48649272	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	5685178	48649272	32545938	309	1782											
MMD	23531	genome.wustl.edu	37	chr17	53488754	53488754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgatggaggagggcactgcCcacgatggccggaacaatga	11	4	15	11	3	0	1	0	1	0	0	0	6	0	4	3	5	2	1	3	5	2	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:53488754C>G	ENST00000262065.3	-	3	429	c.133G>C	c.(133-135)Ggc>Cgc	p.G45R		NM_012329.2	NP_036461.2	Q15546	PAQRB_HUMAN	monocyte to macrophage differentiation-associated	45					cytolysis (GO:0019835)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGGGCACTGCCCACGATGGCC	0.443																																																	0													69	63	65					17																	53488754		2203	4300	6503	SO:0001583	missense	0			X85750	CCDS11586.1	17q	2008-05-02				ENSG00000108960			7153	protein-coding gene	gene with protein product		604467				7503749, 16044242	Standard	NM_012329		Approved	MMA, PAQR11	uc002iui.3	Q15546		ENST00000262065.3:c.133G>C	17.37:g.53488754C>G	ENSP00000262065:p.Gly45Arg		B2R6X9|D3DTY6|Q8TAN7	Missense_Mutation	SNP	pfam_HlyIII-related,tigrfam_HylIII	p.G45R	ENST00000262065.3	37	c.133	CCDS11586.1	17	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026233	0.93518	.	.	ENSG00000108960	ENST00000262065	T	0.31247	1.5	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72083	-0.4397	10	0.87932	D	0	-16.9843	18.8899	0.92395	0.0:1.0:0.0:0.0	.	45	Q15546	PAQRB_HUMAN	R	45	ENSP00000262065:G45R	ENSP00000262065:G45R	G	-	1	0	MMD	50843753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.480000	0.81109	2.707000	0.92482	0.561000	0.74099	GGC	MMD	-	pfam_HlyIII-related,tigrfam_HylIII	ENSG00000108960		0.443	MMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMD	HGNC	protein_coding	OTTHUMT00000439214.1		0	36	0	C			53488754	-1			no_errors	ENST00000262065	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	G	G	53488754	C	G	53488754	3	3	6	1	0	0	0	0	1	0	0	0	9681	623	22	5	603	5	MMD	17	53488754	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4839482	53488754	27706456	310	1783											
INTS2	57508	genome.wustl.edu	37	chr17	59974886	59974886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcactaagctggttgctgtGaaagtacatagccaccaata	14	9	9	9	0	0	1	0	1	0	0	0	1	0	1	2	1	5	5	2	1	6	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:59974886G>A	ENST00000444766.3	-	11	1537	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	INTS2_ENST00000251334.6_Missense_Mutation_p.H480Y	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	488					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGGTTGCTGTGAAAGTACATA	0.358																																																	0													53	48	49					17																	59974886		1864	4101	5965	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1462C>T	17.37:g.59974886G>A	ENSP00000414237:p.His488Tyr		Q9ULD3	Missense_Mutation	SNP	NULL	p.H488Y	ENST00000444766.3	37	c.1462	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441427	0.83993	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.55760	0.5	5.78	4.81	0.61882	.	0.091256	0.85682	D	0.000000	T	0.62804	0.2458	M	0.76170	2.325	0.80722	D	1	D	0.56968	0.978	P	0.50659	0.647	T	0.66771	-0.5839	9	.	.	.	-14.2714	15.029	0.71691	0.0684:0.0:0.9316:0.0	.	488	Q9H0H0	INT2_HUMAN	Y	488;487	ENSP00000414237:H488Y	.	H	-	1	0	INTS2	57329668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.226000	0.95229	1.575000	0.49775	0.591000	0.81541	CAC	INTS2	-	NULL	ENSG00000108506		0.358	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	-	0	42	0	G	NM_020748		59974886	-1	tier1	-	no_errors	ENST00000444766	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	A	A	59974886	G	A	59974886	3	1	6	1	0	0	0	0	1	0	0	0	7805	1290	45	3	2212	3	INTS2	17	59974886	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	6486132	59974886	21220324	311	1784											
DDX42	11325	genome.wustl.edu	37	chr17	61883937	61883937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccaggaagtagctttgctCattttgggtttgacgaacaa	11	12	11	7	1	1	1	1	1	0	0	1	4	1	2	1	2	3	4	1	2	4	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:61883937C>T	ENST00000578681.1	+	9	1370	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	DDX42_ENST00000583590.1_Missense_Mutation_p.H257Y|DDX42_ENST00000359353.5_Missense_Mutation_p.H138Y|DDX42_ENST00000457800.2_Missense_Mutation_p.H257Y|DDX42_ENST00000389924.2_Missense_Mutation_p.H257Y	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	257					protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TAGCTTTGCTCATTTTGGGTT	0.423																																																	0													136	122	127					17																	61883937		2203	4300	6503	SO:0001583	missense	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.769C>T	17.37:g.61883937C>T	ENSP00000464050:p.His257Tyr		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.H257Y	ENST00000578681.1	37	c.769	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203016	0.79127	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.20598	2.06;2.06	5.8	5.8	0.92144	RNA helicase, DEAD-box type, Q motif (1);	0.000000	0.85682	D	0.000000	T	0.32466	0.0830	M	0.76727	2.345	0.80722	D	1	B	0.23937	0.094	B	0.27170	0.077	T	0.08186	-1.0734	10	0.66056	D	0.02	-15.7585	19.0575	0.93072	0.0:1.0:0.0:0.0	.	257	Q86XP3	DDX42_HUMAN	Y	257	ENSP00000374574:H257Y;ENSP00000390121:H257Y	ENSP00000374574:H257Y	H	+	1	0	DDX42	59237669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.758000	0.94735	0.563000	0.77884	CAT	DDX42	-	pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000198231		0.423	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX42	HGNC	protein_coding	OTTHUMT00000444368.1	-	0	59	0	C	NM_007372		61883937	1	tier1	-	no_errors	ENST00000389924	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	T	T	61883937	C	T	61883937	3	4	6	1	0	0	0	0	1	0	0	0	4371	826	29	3	795	3	DDX42	17	61883937	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1909051	61883937	19311273	312	1785											
PSMC5	5705	genome.wustl.edu	37	chr17	61905527	61905527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggggaaggcaggcagCggactccgccaatattatct	11	6	15	9	2	1	0	0	0	1	0	2	4	2	3	2	6	1	2	2	6	4	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:61905527C>T	ENST00000310144.6	+	2	362	c.54C>T	c.(52-54)agC>agT	p.S18S	PSMC5_ENST00000581882.1_Silent_p.S10S|PSMC5_ENST00000375812.4_Silent_p.S10S|FTSJ3_ENST00000580295.1_Intron|FTSJ3_ENST00000427159.2_5'Flank|PSMC5_ENST00000580864.1_Silent_p.S10S	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGGCAGGCAGCGGACTCCGCC	0.537																																																	0													65	65	65					17																	61905527		2203	4300	6503	SO:0001819	synonymous_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.54C>T	17.37:g.61905527C>T			A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.S18	ENST00000310144.6	37	c.54	CCDS11645.1	17																																																																																			PSMC5	-	NULL	ENSG00000087191		0.537	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC5	HGNC	protein_coding	OTTHUMT00000444404.1	-	0	36	0	C	NM_002805		61905527	1	tier1	-	no_errors	ENST00000310144	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.998	T	T	61905527	C	T	61905527	2	4	6	1	0	0	0	0	0	0	0	1	12732	767	27	1		1	PSMC5	17	61905527	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	21590	61905527	19289683	313	1786											
GNA13	10672	genome.wustl.edu	37	chr17	63049639	63049639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgaaattctcgacgcCggtcataggcattctgtatg	9	12	10	10	3	3	1	1	1	2	0	4	2	3	1	2	2	0	3	2	2	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:63049639C>T	ENST00000439174.2	-	2	736	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	GNA13_ENST00000541118.1_Missense_Mutation_p.R69Q|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	164					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.R164Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TTCTCGACGCCGGTCATAGGC	0.408																																																	1	Substitution - Missense(1)	central_nervous_system(1)											84	89	87					17																	63049639		2203	4300	6503	SO:0001583	missense	0			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.491G>A	17.37:g.63049639C>T	ENSP00000400717:p.Arg164Gln		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.R164Q	ENST00000439174.2	37	c.491	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.460789	0.96240	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.90133	-2.62;-2.62	5.42	5.42	0.78866	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.94670	0.7856	10	0.87932	D	0	.	19.2521	0.93929	0.0:1.0:0.0:0.0	.	164	Q14344	GNA13_HUMAN	Q	164;69;139	ENSP00000400717:R164Q;ENSP00000439647:R69Q	ENSP00000239138:R139Q	R	-	2	0	GNA13	60480101	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.542000	0.85734	0.655000	0.94253	CGG	GNA13	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000120063		0.408	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	-	0	35	0	C	NM_006572		63049639	-1	tier1	-	no_errors	ENST00000439174	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	63049639	C	T	63049639	3	4	6	1	0	0	0	0	1	0	0	0	6527	652	23	1	654	1	GNA13	17	63049639	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1144112	63049639	18145571	314	1787											
CACNG4	27092	genome.wustl.edu	37	chr17	65026647	65026647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtgacccgagtgacaagCgggacgaagacaaaaagaac	17	2	13	9	3	0	4	0	2	0	2	0	7	0	5	1	2	2	0	1	2	5	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:65026647C>T	ENST00000262138.3	+	4	513	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	171					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GAGTGACAAGCGGGACGAAGA	0.532																																																	0													129	123	125					17																	65026647		2203	4300	6503	SO:0001583	missense	0			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.511C>T	17.37:g.65026647C>T	ENSP00000262138:p.Arg171Trp		B2RCK0	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin	p.R171W	ENST00000262138.3	37	c.511	CCDS11667.1	17	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303152	0.60195	.	.	ENSG00000075461	ENST00000262138	D	0.89196	-2.48	4.9	3.87	0.44632	.	0.171381	0.44097	D	0.000483	D	0.91978	0.7459	L	0.58101	1.795	0.45515	D	0.998475	D	0.89917	1.0	D	0.70935	0.971	D	0.90782	0.4680	10	0.36615	T	0.2	-5.9882	13.5039	0.61474	0.2493:0.7507:0.0:0.0	.	171	Q9UBN1	CCG4_HUMAN	W	171	ENSP00000262138:R171W	ENSP00000262138:R171W	R	+	1	2	CACNG4	62457109	0.910000	0.30920	0.994000	0.49952	0.942000	0.58702	0.196000	0.17176	2.285000	0.76669	0.556000	0.70494	CGG	CACNG4	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000075461		0.532	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG4	HGNC	protein_coding	OTTHUMT00000447036.1		0	53	0	C	NM_014405		65026647	1			no_errors	ENST00000262138	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.951	T	T	65026647	C	T	65026647	3	4	6	1	0	0	0	0	1	0	0	0	2566	759	27	1	525	1	CACNG4	17	65026647	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1977008	65026647	16168563	315	1788											
CACNG4	27092	genome.wustl.edu	37	chr17	65026680	65026680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaccattacaactacGgctggtctttttactttgga	13	13	7	8	1	1	1	0	0	1	1	1	2	1	2	1	3	5	1	1	3	7	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:65026680G>T	ENST00000262138.3	+	4	546	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	182					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TTACAACTACGGCTGGTCTTT	0.453																																																	0													100	94	96					17																	65026680		2203	4300	6503	SO:0001583	missense	0			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.544G>T	17.37:g.65026680G>T	ENSP00000262138:p.Gly182Cys		B2RCK0	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin	p.G182C	ENST00000262138.3	37	c.544	CCDS11667.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570177	0.86542	.	.	ENSG00000075461	ENST00000262138	D	0.94897	-3.55	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.97387	0.9145	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98235	1.0485	10	0.87932	D	0	-31.9591	18.1618	0.89710	0.0:0.0:1.0:0.0	.	182	Q9UBN1	CCG4_HUMAN	C	182	ENSP00000262138:G182C	ENSP00000262138:G182C	G	+	1	0	CACNG4	62457142	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.314000	0.96306	2.285000	0.76669	0.556000	0.70494	GGC	CACNG4	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_Claudin	ENSG00000075461		0.453	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG4	HGNC	protein_coding	OTTHUMT00000447036.1	-	0	50	0	G	NM_014405		65026680	1	tier1	-	no_errors	ENST00000262138	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	65026680	G	T	65026680	3	4	6	1	0	0	0	0	1	0	0	0	2566	1116	39	2	558	2	CACNG4	17	65026680	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	33	65026680	16168530	316	1789											
TTYH2	94015	genome.wustl.edu	37	chr17	72218722	72218722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgccactgccggcgggaCgatgcggtgcagaccaagca	9	4	15	13	4	0	1	0	0	0	1	0	3	0	2	3	3	5	3	3	3	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:72218722C>T	ENST00000269346.4	+	2	302	c.228C>T	c.(226-228)gaC>gaT	p.D76D	TTYH2_ENST00000529107.1_Silent_p.D55D	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	76						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						GCCGGCGGGACGATGCGGTGC	0.657																																																	0													94	76	82					17																	72218722		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.228C>T	17.37:g.72218722C>T			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	pfam_Tweety	p.D76	ENST00000269346.4	37	c.228	CCDS32717.1	17																																																																																			TTYH2	-	pfam_Tweety	ENSG00000141540		0.657	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1		0	35	0	C			72218722	1			no_errors	ENST00000269346	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.000	T	T	72218722	C	T	72218722	2	4	6	1	0	0	0	0	0	0	0	1	16789	535	19	1		1	TTYH2	17	72218722	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	7192042	72218722	8976488	317	1790											
LLGL2	3993	genome.wustl.edu	37	chr17	73566270	73566270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactctgagtggcggctcgTggccttcggcaccagccatg	5	8	14	14	3	1	1	0	1	1	0	3	1	1	1	3	4	1	3	3	4	0	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:73566270T>C	ENST00000392550.3	+	15	1925	c.1808T>C	c.(1807-1809)gTg>gCg	p.V603A	LLGL2_ENST00000167462.5_Missense_Mutation_p.V603A|LLGL2_ENST00000577200.1_Missense_Mutation_p.V603A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	603					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCGGCTCGTGGCCTTCGGC	0.662																																																	0													21	18	19					17																	73566270		2180	4265	6445	SO:0001583	missense	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1808T>C	17.37:g.73566270T>C	ENSP00000376333:p.Val603Ala		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.V603A	ENST00000392550.3	37	c.1808	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094224	0.56075	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.13657	2.57;2.57	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);	0.116139	0.64402	D	0.000019	T	0.41119	0.1145	M	0.87900	2.915	0.52099	D	0.999942	P;D;D;D;P	0.58268	0.917;0.963;0.978;0.982;0.919	P;B;P;D;P	0.63113	0.69;0.389;0.594;0.911;0.593	T	0.49184	-0.8966	10	0.87932	D	0	-3.771	15.0926	0.72207	0.0:0.0:0.0:1.0	.	230;592;592;603;603	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	A	603;603;592	ENSP00000167462:V603A;ENSP00000376333:V603A	ENSP00000167462:V603A	V	+	2	0	LLGL2	71077865	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.913000	0.87471	1.969000	0.57287	0.449000	0.29647	GTG	LLGL2	-	superfamily_WD40_repeat_dom,prints_Lethal2_giant	ENSG00000073350		0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1		0	55	0	T	NM_004524		73566270	1			no_errors	ENST00000392550	ensembl	human	known	74_37	missense	5.00	75	4	SNP	1.000	C	C	73566270	T	C	73566270	3	2	6	1	0	0	0	0	1	0	0	0	8864	1696	59	4	1897	4	LLGL2	17	73566270	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1347548	73566270	7628940	318	1791											
USP36	57602	genome.wustl.edu	37	chr17	76810529	76810529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgcccggcatggcagcTgtagcccgagtgcaccagga	9	6	14	12	2	0	0	0	0	0	0	0	2	0	1	3	3	4	5	3	3	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:76810529T>C	ENST00000542802.3	-	11	1572	c.1129A>G	c.(1129-1131)Agc>Ggc	p.S377G	USP36_ENST00000588467.1_5'UTR|USP36_ENST00000449938.2_Missense_Mutation_p.S77G|USP36_ENST00000312010.6_Missense_Mutation_p.S377G			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	377	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCATGGCAGCTGTAGCCCGAG	0.527																																																	0													92	68	76					17																	76810529		2203	4300	6503	SO:0001583	missense	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.1129A>G	17.37:g.76810529T>C	ENSP00000441214:p.Ser377Gly		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S377G	ENST00000542802.3	37	c.1129	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411169	0.83340	.	.	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802;ENST00000432878	T;T;T	0.06687	3.27;3.27;3.27	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.077885	0.85682	D	0.000000	T	0.24509	0.0594	L	0.53561	1.675	0.58432	D	0.999996	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.978	T	0.00565	-1.1668	10	0.87932	D	0	-32.9359	14.672	0.68951	0.0:0.0:0.0:1.0	.	377;377	Q9P275;Q9P275-2	UBP36_HUMAN;.	G	377;77;377;377	ENSP00000310590:S377G;ENSP00000401119:S77G;ENSP00000441214:S377G	ENSP00000310590:S377G	S	-	1	0	USP36	74322124	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.123000	0.57917	1.936000	0.56123	0.533000	0.62120	AGC	USP36	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000055483		0.527	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3		0	25	0	T	NM_025090		76810529	-1			no_errors	ENST00000312010	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	C	C	76810529	T	C	76810529	3	2	6	1	0	0	0	0	1	0	0	0	17116	1580	55	4	2282	4	USP36	17	76810529	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	3244259	76810529	4384681	319	1792											
RPTOR	57521	genome.wustl.edu	37	chr17	78865547	78865547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggctctgagtcatcttGtggttcagtatgaaagcaat	9	14	12	6	0	4	2	2	2	2	0	4	2	4	2	0	3	1	4	0	3	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr17:78865547G>T	ENST00000306801.3	+	18	2373	c.2011G>T	c.(2011-2013)Gtg>Ttg	p.V671L	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.V513L	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	671					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GAGTCATCTTGTGGTTCAGTA	0.517																																																	0													182	157	166					17																	78865547		2203	4300	6503	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2011G>T	17.37:g.78865547G>T	ENSP00000307272:p.Val671Leu		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.V671L	ENST00000306801.3	37	c.2011	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539444	0.65085	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.34275	1.38;1.37	4.69	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.55417	0.1919	L	0.56769	1.78	0.80722	D	1	P;B	0.47910	0.902;0.179	D;B	0.64595	0.927;0.057	T	0.49153	-0.8969	10	0.31617	T	0.26	.	17.8192	0.88645	0.0:0.0:1.0:0.0	.	513;671	F5H7J5;Q8N122	.;RPTOR_HUMAN	L	671;513	ENSP00000307272:V671L;ENSP00000442479:V513L	ENSP00000307272:V671L	V	+	1	0	RPTOR	76480142	1.000000	0.71417	0.045000	0.18777	0.155000	0.21991	9.112000	0.94314	2.434000	0.82447	0.591000	0.81541	GTG	RPTOR	-	superfamily_ARM-type_fold	ENSG00000141564		0.517	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	-	0	22	0	G	NM_020761		78865547	1	tier1	-	no_errors	ENST00000306801	ensembl	human	known	74_37	missense	20.00	60	15	SNP	0.994	T	T	78865547	G	T	78865547	3	4	6	1	0	0	0	0	1	0	0	0	13710	1377	48	3	2081	3	RPTOR	17	78865547	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2055018	78865547	2329663	320	1793											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6882152	6882152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcaataccgtgaagaacTtgatgccaagtttaatgctg	14	10	9	8	1	0	3	0	2	0	1	0	3	0	3	2	0	5	3	2	0	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr18:6882152T>C	ENST00000383472.4	+	11	1411	c.1307T>C	c.(1306-1308)cTt>cCt	p.L436P	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.L259P|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.L272P|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.L277P|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.L384P|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.L277P|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.L277P|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.L436P			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	436	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L436P(1)|p.L277P(1)|p.L436R(1)|p.L277R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGTGAAGAACTTGATGCCAAG	0.378																																																	4	Substitution - Missense(4)	large_intestine(4)											151	146	148					18																	6882152		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1307T>C	18.37:g.6882152T>C	ENSP00000372964:p.Leu436Pro		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L436P	ENST00000383472.4	37	c.1307		18	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004380	0.74932	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.151215	0.44285	D	0.000463	T	0.60702	0.2289	M	0.91612	3.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.70718	-0.4795	10	0.87932	D	0	.	15.9369	0.79717	0.0:0.0:0.0:1.0	.	436;268;277;384	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	P	436;384;277;272;277;277;268;259	ENSP00000382963:L436P;ENSP00000262227:L384P;ENSP00000392660:L277P;ENSP00000437262:L272P;ENSP00000313506:L277P;ENSP00000406907:L277P	ENSP00000262227:L384P	L	+	2	0	ARHGAP28	6872152	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.655000	0.74392	2.172000	0.68678	0.533000	0.62120	CTT	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.378	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	41	0	T	XM_371108		6882152	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	28.38	53	21	SNP	1.000	C	C	6882152	T	C	6882152	3	2	6	1	0	0	0	0	1	0	0	0	877	1609	56	4	864	4	ARHGAP28	18	6882152	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09		6882152	71195096	321	1794											
CABYR	26256	genome.wustl.edu	37	chr18	21736850	21736850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagaagcagtgcactcagGtacatctgtaaagtcatcta	13	10	9	9	0	4	1	2	0	2	1	4	1	4	1	0	1	4	5	0	1	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr18:21736850G>C	ENST00000399481.2	+	2	1243	c.1091G>C	c.(1090-1092)gGt>gCt	p.G364A	CABYR_ENST00000399496.3_Intron|CABYR_ENST00000399499.1_Intron|CABYR_ENST00000415309.2_Intron|RP11-799B12.4_ENST00000583267.1_lincRNA|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000327201.6_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	462					epithelial cilium movement (GO:0003351)|sperm capacitation (GO:0048240)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GTGCACTCAGGTACATCTGTA	0.522																																																	0													53	56	55					18																	21736850		2203	4300	6503	SO:0001583	missense	0			AF088868	CCDS11881.1, CCDS11882.1, CCDS11883.1, CCDS42420.1, CCDS45840.1	18q11.2	2009-08-06	2007-11-22		ENSG00000154040	ENSG00000154040			15569	protein-coding gene	gene with protein product	"fibrousheathin 2", "cancer/testis antigen 88"	612135				11820818, 17317841, 16139264	Standard	NM_012189		Approved	FSP-2, CBP86, CT88	uc002kux.3	O75952	OTTHUMG00000037365	ENST00000399481.2:c.1091G>C	18.37:g.21736850G>C	ENSP00000382404:p.Gly364Ala		B2R857|Q8WXW5|Q9HAY3|Q9HAY4|Q9HAY5|Q9HCY9	Missense_Mutation	SNP	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b	p.G462A	ENST00000399481.2	37	c.1385		18	.	.	.	.	.	.	.	.	.	.	G	5.849	0.340890	0.11069	.	.	ENSG00000154040	ENST00000399481	T	0.35048	1.33	4.12	0.948	0.19561	.	0.843607	0.09904	N	0.740651	T	0.13756	0.0333	N	0.04508	-0.205	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.17098	0.017;0.007	T	0.29761	-1.0001	9	.	.	.	-0.0495	2.0375	0.03543	0.1152:0.1852:0.4807:0.2188	.	444;462	O75952-2;O75952	.;CABYR_HUMAN	A	364	ENSP00000382404:G364A	.	G	+	2	0	CABYR	19990848	0.007000	0.16637	0.001000	0.08648	0.096000	0.18686	0.361000	0.20267	0.392000	0.25172	0.591000	0.81541	GGT	CABYR	-	NULL	ENSG00000154040		0.522	CABYR-201	KNOWN	basic	protein_coding	CABYR	HGNC	protein_coding		-	0	42	0	G	NM_153770		21736850	1	tier1	-	no_errors	ENST00000463087	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	C	C	21736850	G	C	21736850	3	2	6	1	0	0	0	0	1	0	0	0	2543	1261	44	5	1395	5	CABYR	18	21736850	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	14854698	21736850	56340398	322	1795											
DSG1	1828	genome.wustl.edu	37	chr18	28934607	28934607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagcacctatccctcGggacctggtgtactgcatcc	7	10	10	14	1	1	1	0	1	1	1	4	3	3	2	4	2	3	3	4	2	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr18:28934607G>A	ENST00000257192.4	+	15	2660	c.2448G>A	c.(2446-2448)tcG>tcA	p.S816S	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Silent_p.S175S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	816					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.S816S(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCTATCCCTCGGGACCTGGTG	0.517																																																	1	Substitution - coding silent(1)	lung(1)											164	142	149					18																	28934607		2203	4300	6503	SO:0001819	synonymous_variant	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2448G>A	18.37:g.28934607G>A			B7Z845	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.S816	ENST00000257192.4	37	c.2448	CCDS11896.1	18																																																																																			DSG1	-	NULL	ENSG00000134760		0.517	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	-	0	24	0	G	NM_001942		28934607	1	tier1	-	no_errors	ENST00000257192	ensembl	human	known	74_37	silent	38.71	38	24	SNP	0.003	A	A	28934607	G	A	28934607	2	1	6	1	0	0	0	0	0	0	0	1	4790	1103	39	1		1	DSG1	18	28934607	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	7197757	28934607	49142641	323	1796											
ASXL3	80816	genome.wustl.edu	37	chr18	31318535	31318535	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagttcttcatgtgggacTtctggccttccagtttctgc	5	16	10	10	0	4	0	1	0	3	0	5	1	5	1	2	2	1	3	2	2	1	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr18:31318535T>C	ENST00000269197.5	+	11	1167	c.1167T>C	c.(1165-1167)acT>acC	p.T389T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATGTGGGACTTCTGGCCTTC	0.483																																																	0													62	64	64					18																	31318535		1931	4144	6075	SO:0001819	synonymous_variant	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1167T>C	18.37:g.31318535T>C			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.T389	ENST00000269197.5	37	c.1167	CCDS45847.1	18																																																																																			ASXL3	-	NULL	ENSG00000141431		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	61	0	T			31318535	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.660	C	C	31318535	T	C	31318535	2	2	6	1	0	0	0	0	0	0	0	1	1069	1596	56	4		4	ASXL3	18	31318535	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	2383928	31318535	46758713	324	1797											
FECH	2235	genome.wustl.edu	37	chr18	55247402	55247402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgacttccacctccatgGctgacagaccctccagctgc	8	8	7	18	0	0	3	0	2	0	1	3	3	3	3	6	1	2	2	6	1	0	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr18:55247402G>A	ENST00000262093.5	-	2	248	c.97C>T	c.(97-99)Cca>Tca	p.P33S	FECH_ENST00000382873.3_Missense_Mutation_p.P33S|FECH_ENST00000585699.1_Intron	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	33					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CACCTCCATGGCTGACAGACC	0.522																																																	0													85	78	81					18																	55247402		2203	4300	6503	SO:0001583	missense	0			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"protoporphyria"	612386	"ferrochelatase (protoporphyria)"			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.97C>T	18.37:g.55247402G>A	ENSP00000262093:p.Pro33Ser		A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	pfam_Ferrochelatase,tigrfam_Ferrochelatase	p.P33S	ENST00000262093.5	37	c.97	CCDS11964.1	18	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224736	0.39300	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.97328	-4.34;-4.34	5.61	4.71	0.59529	.	0.604283	0.18286	N	0.145889	D	0.93383	0.7890	L	0.27053	0.805	0.28745	N	0.901731	B;P	0.38827	0.22;0.649	B;B	0.39258	0.054;0.295	D	0.87766	0.2602	10	0.19147	T	0.46	-5.418	13.8177	0.63301	0.0:0.1537:0.8463:0.0	.	33;33	P22830;P22830-2	HEMH_HUMAN;.	S	33	ENSP00000262093:P33S;ENSP00000372326:P33S	ENSP00000262093:P33S	P	-	1	0	FECH	53398400	0.309000	0.24518	0.992000	0.48379	0.125000	0.20455	3.504000	0.53347	1.447000	0.47661	0.655000	0.94253	CCA	FECH	-	NULL	ENSG00000066926		0.522	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FECH	HGNC	protein_coding	OTTHUMT00000256098.1		0	35	0	G			55247402	-1			no_errors	ENST00000382873	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.958	A	A	55247402	G	A	55247402	3	1	6	1	0	0	0	0	1	0	0	0	5830	1203	42	3	1232	3	FECH	18	55247402	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	23928867	55247402	22829846	325	1798											
ZNF532	55205	genome.wustl.edu	37	chr18	56606792	56606792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatggcgtttaagtctGccccaagcacacattcccac	10	9	7	15	1	1	0	0	0	1	0	3	0	3	0	4	1	2	2	4	1	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr18:56606792G>T	ENST00000336078.4	+	6	3420	c.2644G>T	c.(2644-2646)Gcc>Tcc	p.A882S	ZNF532_ENST00000591083.1_Missense_Mutation_p.A882S|ZNF532_ENST00000591230.1_Missense_Mutation_p.A882S|ZNF532_ENST00000589288.1_Missense_Mutation_p.A882S|ZNF532_ENST00000591808.1_Missense_Mutation_p.A882S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	882					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTTTAAGTCTGCCCCAAGCAC	0.453																																																	0													140	118	125					18																	56606792		2203	4300	6503	SO:0001583	missense	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2644G>T	18.37:g.56606792G>T	ENSP00000338217:p.Ala882Ser		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A882S	ENST00000336078.4	37	c.2644	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	g	34	5.342849	0.95783	.	.	ENSG00000074657	ENST00000336078	T	0.27104	1.69	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.051440	0.85682	D	0.000000	T	0.33030	0.0849	N	0.11106	0.095	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.26916	-1.0089	10	0.29301	T	0.29	-24.544	18.8737	0.92327	0.0:0.0:1.0:0.0	.	882	Q9HCE3	ZN532_HUMAN	S	882	ENSP00000338217:A882S	ENSP00000338217:A882S	A	+	1	0	ZNF532	54757772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.601000	0.74136	2.579000	0.87056	0.645000	0.84053	GCC	ZNF532	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000074657		0.453	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0	42	0	G	NM_018181		56606792	1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	56606792	G	T	56606792	3	4	6	1	0	0	0	0	1	0	0	0	18020	1319	46	3	2654	3	ZNF532	18	56606792	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1359390	56606792	21470456	326	1799											
MC4R	4160	genome.wustl.edu	37	chr18	58038875	58038875	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccttcatattggcaccttgGcggatggcaccagtgccggg	6	9	13	13	2	1	0	1	0	0	0	1	1	1	1	4	5	1	2	4	5	1	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr18:58038875G>T	ENST00000299766.3	-	1	1126	c.708C>A	c.(706-708)cgC>cgA	p.R236R		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	236					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)	p.R236R(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGGCACCTTGGCGGATGGCAC	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)											71	66	68					18																	58038875		2203	4300	6503	SO:0001819	synonymous_variant	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.708C>A	18.37:g.58038875G>T			B2RAC3|Q16317|Q3MIJ6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.R236	ENST00000299766.3	37	c.708	CCDS11976.1	18																																																																																			MC4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Mcort_rcpt_4	ENSG00000166603		0.517	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1		0	22	0	G	NM_005912		58038875	-1			no_errors	ENST00000299766	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.998	T	T	58038875	G	T	58038875	2	4	6	1	0	0	0	0	0	0	0	1	9404	1190	42	3		3	MC4R	18	58038875	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1432083	58038875	20038373	327	1800											
HMHA1	23526	genome.wustl.edu	37	chr19	1083036	1083036	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgagaaccgggcctcGctgcagtacctgctgcgtca	6	7	12	16	4	1	1	1	1	0	1	2	2	1	1	5	1	5	4	5	1	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:1083036G>T	ENST00000313093.2	+	20	2946	c.2715G>T	c.(2713-2715)tcG>tcT	p.S905S	HMHA1_ENST00000586866.1_Silent_p.S909S|HMHA1_ENST00000543365.1_Silent_p.S788S|HMHA1_ENST00000536472.1_Silent_p.S773S|HMHA1_ENST00000590214.1_Silent_p.S932S|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590577.1_Silent_p.S540S|HMHA1_ENST00000539243.2_Silent_p.S921S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	905	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGGGCCTCGCTGCAGTACC	0.741																																																	0													6	7	7					19																	1083036		2119	4158	6277	SO:0001819	synonymous_variant	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2715G>T	19.37:g.1083036G>T			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S905	ENST00000313093.2	37	c.2715	CCDS32863.1	19																																																																																			HMHA1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000180448		0.741	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	-	0	19	0	G			1083036	1	tier1	-	no_errors	ENST00000313093	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.945	T	T	1083036	G	T	1083036	2	4	6	1	0	0	0	0	0	0	0	1	7267	1074	38	2		2	HMHA1	19	1083036	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		1083036	58045947	328	1801											
MEX3D	399664	genome.wustl.edu	37	chr19	1556852	1556852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccggtcacgatgaagacCggctcctcgccccgcactgg	6	5	13	17	6	1	2	1	1	0	1	3	3	2	2	5	4	0	2	5	4	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:1556852C>T	ENST00000402693.4	-	2	665	c.666G>A	c.(664-666)ccG>ccA	p.P222P	MEX3D_ENST00000388824.6_Silent_p.P222P|AC027307.2_ENST00000581992.1_RNA|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	222	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGATGAAGACCGGCTCCTCGC	0.642																																																	0													33	35	34					19																	1556852		2200	4286	6486	SO:0001819	synonymous_variant	0			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	16734	protein-coding gene	gene with protein product	"bcl-2 ARE RNA binding protein"	611009	"ring finger and KH domain containing 1", "mex-3 homolog D (C. elegans)"	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.666G>A	19.37:g.1556852C>T			A0PJL8|A1L023|E9PAL6|Q71M49	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.P222	ENST00000402693.4	37	c.666	CCDS32865.2	19																																																																																			MEX3D	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000181588		0.642	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2		0	51	0	C	NM_203304		1556852	-1			no_errors	ENST00000388824	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.008	T	T	1556852	C	T	1556852	2	4	6	1	0	0	0	0	0	0	0	1	9550	639	23	1		1	MEX3D	19	1556852	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	473816	1556852	57572131	329	1802											
C19orf29	58509	genome.wustl.edu	37	chr19	3624103	3624103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagtgccacttgggccgCggggggctccggcttcgcat	3	9	16	13	4	0	1	0	1	0	0	2	1	1	1	3	5	1	3	3	5	0	3	rs376574412		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:3624103C>T	ENST00000429344.2	-	2	277	c.225G>A	c.(223-225)ccG>ccA	p.P75P	CACTIN_ENST00000248420.5_Silent_p.P75P|CACTIN_ENST00000221899.3_Silent_p.P7P	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	75					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ACTTGGGCCGCGGGGGGCTCC	0.672																																																	0								C	,	0,3938		0,0,1969	62	72	69		225,225	-8.8	0	19		69	1,8183		0,1,4091	no	coding-synonymous,coding-synonymous	C19orf29	NM_001080543.1,NM_021231.1	,	0,1,6060	TT,TC,CC		0.0122,0.0,0.0082	,	75/759,75/759	3624103	1,12121	1969	4092	6061	SO:0001819	synonymous_variant	0			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"NY REN 24 antigen", "functional spliceosome-associated protein c", "cactin homolog (Drosophila)"		"chromosome 19 open reading frame 29"	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.225G>A	19.37:g.3624103C>T			A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.P7	ENST00000429344.2	37	c.21	CCDS45920.1	19																																																																																			CACTIN	-	NULL	ENSG00000105298		0.672	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	-	0	45	0	C			3624103	-1	tier1	-	no_errors	ENST00000221899	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.000	T	T	3624103	C	T	3624103	2	4	6	1	0	0	0	0	0	0	0	1	1925	755	27	1		1	C19orf29	19	3624103	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2067251	3624103	55504880	330	1803											
MAP2K2	5605	genome.wustl.edu	37	chr19	4099205	4099205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcaggccgtaccgctgaCggggcgcccggggggcctcg	4	5	18	14	6	1	1	1	1	0	0	2	2	1	1	4	6	1	2	4	6	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:4099205C>T	ENST00000262948.5	-	7	1166	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	MAP2K2_ENST00000394867.4_Missense_Mutation_p.V208I|MAP2K2_ENST00000599345.1_5'Flank	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	305	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GTACCGCTGACGGGGCGCCCG	0.706																																																	0													9	10	10					19																	4099205		2167	4244	6411	SO:0001583	missense	0			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.913G>A	19.37:g.4099205C>T	ENSP00000262948:p.Val305Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V305I	ENST00000262948.5	37	c.913	CCDS12120.1	19	.	.	.	.	.	.	.	.	.	.	c	4.290	0.052980	0.08291	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	D;D	0.92348	-3.02;-3.02	4.44	1.18	0.20946	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.402492	0.27554	N	0.018845	D	0.83945	0.5364	L	0.31294	0.92	0.23886	N	0.996564	B	0.02656	0.0	B	0.04013	0.001	T	0.70070	-0.4973	10	0.33940	T	0.23	-6.5506	7.4778	0.27387	0.0:0.2766:0.0:0.7234	.	305	P36507	MP2K2_HUMAN	I	305;208	ENSP00000262948:V305I;ENSP00000378336:V208I	ENSP00000262948:V305I	V	-	1	0	MAP2K2	4050205	0.749000	0.28305	0.998000	0.56505	0.232000	0.25224	0.125000	0.15749	-0.053000	0.13289	-0.609000	0.04063	GTC	MAP2K2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000126934		0.706	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K2	HGNC	protein_coding	OTTHUMT00000258957.2		0	19	0	C			4099205	-1			no_errors	ENST00000262948	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.998	T	T	4099205	C	T	4099205	3	4	6	1	0	0	0	0	1	0	0	0	9275	536	19	1	309	1	MAP2K2	19	4099205	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	475102	4099205	55029778	331	1804											
INSR	3643	genome.wustl.edu	37	chr19	7184523	7184523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacacacctgccgtccaGgtagaagttgcggcaggcca	9	6	11	15	2	0	1	0	0	0	1	2	1	2	1	5	3	2	3	5	3	2	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:7184523G>T	ENST00000302850.5	-	3	920	c.778C>A	c.(778-780)Ctg>Atg	p.L260M	INSR_ENST00000341500.5_Missense_Mutation_p.L260M	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	260	Cys-rich.		L -> P (in LEPRCH; Geldeimalsen). {ECO:0000269|PubMed:2479553}.		activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CTGCCGTCCAGGTAGAAGTTG	0.637																																																	0													42	37	38					19																	7184523		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.778C>A	19.37:g.7184523G>T	ENSP00000303830:p.Leu260Met		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.L260M	ENST00000302850.5	37	c.778	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620541	0.46736	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.97575	-4.44;-4.44	5.01	5.01	0.66863	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.36167	N	0.002741	D	0.96534	0.8869	L	0.46947	1.48	0.36864	D	0.888551	B;P;B	0.46706	0.045;0.883;0.215	B;P;B	0.57468	0.36;0.821;0.36	D	0.96264	0.9193	10	0.34782	T	0.22	.	9.4508	0.38725	0.0962:0.0:0.9038:0.0	.	251;260;260	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	M	260	ENSP00000303830:L260M;ENSP00000342838:L260M	ENSP00000303830:L260M	L	-	1	2	INSR	7135523	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.305000	0.65750	2.319000	0.78375	0.655000	0.94253	CTG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000171105		0.637	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1		0	54	0	G			7184523	-1			no_errors	ENST00000302850	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	7184523	G	T	7184523	3	4	6	1	0	0	0	0	1	0	0	0	7800	991	35	3	3450	3	INSR	19	7184523	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3085318	7184523	51944460	332	1805											
ATG4D	84971	genome.wustl.edu	37	chr19	10662891	10662891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccccagtccttccactGcacctcgccccgcaagatgg	6	8	8	19	2	1	1	0	0	1	1	4	1	3	1	7	1	2	2	7	1	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:10662891G>A	ENST00000309469.4	+	9	1306	c.1133G>A	c.(1132-1134)tGc>tAc	p.C378Y	RNU7-140P_ENST00000459546.1_RNA|MIR1238_ENST00000408483.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.C45Y	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	378					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCCTTCCACTGCACCTCGCCC	0.622																																																	0													86	82	83					19																	10662891		2203	4300	6503	SO:0001583	missense	0			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"AUT-like 4, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog D (S. cerevisiae)", "ATG4 autophagy related 4 homolog D (S. cerevisiae)"	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1133G>A	19.37:g.10662891G>A	ENSP00000311318:p.Cys378Tyr		Q969K0	Missense_Mutation	SNP	pfam_Peptidase_C54	p.C378Y	ENST00000309469.4	37	c.1133	CCDS12241.1	19	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627196	0.87560	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	T	0.48836	0.8	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.76062	0.3935	M	0.91768	3.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81411	-0.0945	10	0.66056	D	0.02	-17.2164	18.0197	0.89252	0.0:0.0:1.0:0.0	.	315;378	B4DGM8;Q86TL0	.;ATG4D_HUMAN	Y	378;45	ENSP00000311318:C378Y	ENSP00000311318:C378Y	C	+	2	0	ATG4D	10523891	1.000000	0.71417	0.999000	0.59377	0.776000	0.43924	9.404000	0.97306	2.635000	0.89317	0.561000	0.74099	TGC	ATG4D	-	pfam_Peptidase_C54	ENSG00000130734		0.622	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4D	HGNC	protein_coding	OTTHUMT00000452022.1		0	68	0	G	NM_032885		10662891	1			no_errors	ENST00000309469	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	10662891	G	A	10662891	3	1	6	1	0	0	0	0	1	0	0	0	1100	1319	46	3	1167	3	ATG4D	19	10662891	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3478368	10662891	48466092	333	1806											
CARM1	10498	genome.wustl.edu	37	chr19	11018787	11018787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtctgtgttcagcgagcGgacggaggagtcttctgccg	5	9	17	10	5	4	0	1	0	3	0	4	4	4	3	1	4	3	1	1	4	0	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:11018787G>A	ENST00000327064.4	+	3	609	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	CARM1_ENST00000344150.4_Missense_Mutation_p.R140Q	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	140					cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTCAGCGAGCGGACGGAGGAG	0.642																																																	0													139	124	129					19																	11018787		2203	4300	6503	SO:0001583	missense	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.419G>A	19.37:g.11018787G>A	ENSP00000325690:p.Arg140Gln		A6NN38	Missense_Mutation	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11	p.R140Q	ENST00000327064.4	37	c.419	CCDS12250.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.180660	0.94846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.31510	1.49;1.51	5.43	4.4	0.53042	.	0.057943	0.64402	D	0.000003	T	0.41834	0.1176	M	0.83483	2.645	0.58432	D	0.999999	D	0.58970	0.984	P	0.45119	0.47	T	0.52660	-0.8546	10	0.56958	D	0.05	-4.2615	13.3439	0.60561	0.078:0.0:0.922:0.0	.	140	Q86X55	CARM1_HUMAN	Q	140	ENSP00000325690:R140Q;ENSP00000340934:R140Q	ENSP00000325690:R140Q	R	+	2	0	CARM1	10879787	1.000000	0.71417	0.978000	0.43139	0.861000	0.49209	8.927000	0.92846	1.424000	0.47217	0.563000	0.77884	CGG	CARM1	-	NULL	ENSG00000142453		0.642	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	-	0	29	0	G	XM_032719		11018787	1	tier1	-	no_errors	ENST00000327064	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	A	A	11018787	G	A	11018787	3	1	6	1	0	0	0	0	1	0	0	0	2662	1116	39	1	429	1	CARM1	19	11018787	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	355896	11018787	48110196	334	1807											
OR10H2	26538	genome.wustl.edu	37	chr19	15838920	15838920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctgccttcccccacCtccaactgatgctcttcctg	4	13	5	19	0	2	1	0	1	2	0	6	1	5	1	6	0	3	2	6	0	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:15838920C>G	ENST00000305899.3	+	1	87	c.67C>G	c.(67-69)Ctc>Gtc	p.L23V		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTTCCCCCACCTCCAACTGAT	0.582																																																	0													277	239	252					19																	15838920		2203	4300	6503	SO:0001583	missense	0			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.67C>G	19.37:g.15838920C>G	ENSP00000306095:p.Leu23Val		Q6IFQ1|Q96R58	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L23V	ENST00000305899.3	37	c.67	CCDS12333.1	19	.	.	.	.	.	.	.	.	.	.	.	2.890	-0.229771	0.06022	.	.	ENSG00000171942	ENST00000305899	T	0.04970	3.52	2.15	1.06	0.20224	.	0.000000	0.43416	D	0.000562	T	0.09423	0.0232	L	0.46885	1.475	0.09310	N	1	P	0.50943	0.94	P	0.52267	0.694	T	0.12578	-1.0542	10	0.48119	T	0.1	.	6.3528	0.21385	0.0:0.8302:0.0:0.1698	.	23	O60403	O10H2_HUMAN	V	23	ENSP00000306095:L23V	ENSP00000306095:L23V	L	+	1	0	OR10H2	15699920	0.000000	0.05858	0.002000	0.10522	0.084000	0.17831	0.283000	0.18846	0.119000	0.18210	0.194000	0.17425	CTC	OR10H2	-	NULL	ENSG00000171942		0.582	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	-	0	98	0	C			15838920	1	tier1	-	no_errors	ENST00000305899	ensembl	human	known	74_37	missense	31.25	77	35	SNP	0.001	G	G	15838920	C	G	15838920	3	3	6	1	0	0	0	0	1	0	0	0	10945	681	24	5	69	5	OR10H2	19	15838920	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	4820133	15838920	43290063	335	1808											
SIN3B	23309	genome.wustl.edu	37	chr19	16982133	16982133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccacgcagtacgaggacaCcctacgcgagatgttcacca	11	5	9	16	4	1	1	1	0	0	1	1	4	1	2	4	1	2	3	4	1	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:16982133C>G	ENST00000248054.5	+	14	2537	c.2516C>G	c.(2515-2517)aCc>aGc	p.T839S	SIN3B_ENST00000595541.1_Missense_Mutation_p.T429S|SIN3B_ENST00000379803.1_Missense_Mutation_p.T871S					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TACGAGGACACCCTACGCGAG	0.647																																																	0													112	94	100					19																	16982133		2203	4300	6503	SO:0001583	missense	0			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"SIN3 homolog B, transcription regulator (yeast)", "SIN3 transcription regulator homolog B (yeast)"			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.2516C>G	19.37:g.16982133C>G	ENSP00000248054:p.Thr839Ser			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.T871S	ENST00000248054.5	37	c.2612		19	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072440	0.55646	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.41400	1.01;1.0	5.05	5.05	0.67936	.	0.051029	0.85682	D	0.000000	T	0.44435	0.1293	N	0.16201	0.385	0.58432	D	0.999996	D;P;B	0.71674	0.998;0.815;0.22	D;B;B	0.77004	0.989;0.421;0.074	T	0.20538	-1.0272	10	0.06236	T	0.91	-23.5198	18.3659	0.90390	0.0:1.0:0.0:0.0	.	429;839;871	B7Z392;O75182-2;O75182	.;.;SIN3B_HUMAN	S	871;839	ENSP00000369131:T871S;ENSP00000248054:T839S	ENSP00000248054:T839S	T	+	2	0	SIN3B	16843133	1.000000	0.71417	0.743000	0.31040	0.835000	0.47333	7.510000	0.81708	2.347000	0.79759	0.491000	0.48974	ACC	SIN3B	-	NULL	ENSG00000127511		0.647	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	-	0	23	0	C	NM_015260		16982133	1	tier1	-	no_errors	ENST00000379803	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	G	G	16982133	C	G	16982133	3	3	6	1	0	0	0	0	1	0	0	0	14371	507	18	5	2670	5	SIN3B	19	16982133	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1143213	16982133	42146850	336	1809											
SLC5A5	6528	genome.wustl.edu	37	chr19	17985311	17985311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtctacagatgctgtaCaccggcatcgtaatctacgc	9	11	8	13	3	3	1	0	0	3	1	4	1	3	1	1	1	4	4	1	1	4	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:17985311C>T	ENST00000222248.3	+	3	779	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	144					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGATGCTGTACACCGGCATCG	0.592																																					Melanoma(65;1008 1708 7910 46650)												0													114	114	114					19																	17985311		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.432C>T	19.37:g.17985311C>T			O43702|Q2M335|Q9NYB6	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.Y144	ENST00000222248.3	37	c.432	CCDS12368.1	19																																																																																			SLC5A5	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000105641		0.592	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1		0	46	0	C			17985311	1			no_errors	ENST00000222248	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T	T	17985311	C	T	17985311	2	4	6	1	0	0	0	0	0	0	0	1	14713	489	17	3		3	SLC5A5	19	17985311	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	1003178	17985311	41143672	337	1810											
IFI30	10437	genome.wustl.edu	37	chr19	18284687	18284689	+	In_Frame_Del	DEL	GCT	GCT	-																															cttctgctgttcctgccaccGctgctgctgctgctggacgt																								rs373433112		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:18284687_18284689delGCT	ENST00000407280.3	+	1	211_213	c.36_38delGCT	c.(34-39)ccgctg>ccg	p.L17del	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	17					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						tcctgccaccgctgctgctgctg	0.621																																																	0																																										SO:0001651	inframe_deletion	0			J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"gamma-interferon-inducible lysosomal thiol reductase", "interferon gamma-inducible protein 30 preproprotein"	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.36_38delGCT	19.37:g.18284696_18284698delGCT	ENSP00000384886:p.Leu17del		Q76MF9|Q8NEI4|Q8WU77|Q9UL08	In_Frame_Del	DEL	pfam_Interferon-induced_GILT	p.L16in_frame_del	ENST00000407280.3	37	c.36_38	CCDS46015.1	19																																																																																			IFI30	-	NULL	ENSG00000216490		0.621	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFI30	HGNC	protein_coding	OTTHUMT00000466396.3		0	56	0	GCT	NM_006332		18284689	1			no_errors	ENST00000407280	ensembl	human	known	74_37	in_frame_del	9.23	59	6	DEL	0.167:0.723:0.800	0	-	18284689	GCT	-	18284687	7	5	6	1	0	1	0	1	0	0	0	0	7542	1074	38	0	38	0	IFI30	19	18284687	In_Frame_Del	DEL	GCT	TCGA-2H-A9GK-01A-11D-A37C-09	299376	18284687	40844296	338	1811											
ZNF90	7643	genome.wustl.edu	37	chr19	20229823	20229823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaatgtcaagaatgtgAcaaagccttcaagtactcct	15	10	6	10	0	2	2	2	1	0	1	3	2	3	2	2	0	3	1	2	0	7	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:20229823A>G	ENST00000418063.2	+	4	1572	c.1460A>G	c.(1459-1461)gAc>gGc	p.D487G	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	487					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						CAAGAATGTGACAAAGCCTTC	0.413																																																	0													94	87	89					19																	20229823		692	1591	2283	SO:0001583	missense	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1460A>G	19.37:g.20229823A>G	ENSP00000410466:p.Asp487Gly		B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D487G	ENST00000418063.2	37	c.1460	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	a	0.007	-2.016103	0.00418	.	.	ENSG00000213988	ENST00000418063	T	0.18174	2.23	1.12	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02304	0.0071	N	0.00080	-2.225	0.23050	N	0.998379	B	0.02656	0.0	B	0.01281	0.0	T	0.41088	-0.9528	8	.	.	.	.	4.2243	0.10574	0.5038:0.0:0.4962:0.0	.	487	Q03938	ZNF90_HUMAN	G	487	ENSP00000410466:D487G	.	D	+	2	0	ZNF90	20090823	0.964000	0.33143	0.008000	0.14137	0.008000	0.06430	1.256000	0.32921	-0.814000	0.04352	-0.804000	0.03201	GAC	ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213988		0.413	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	-	0	51	0	A	NM_007138		20229823	1	tier1	-	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.999	G	G	20229823	A	G	20229823	3	3	6	1	0	0	0	0	1	0	0	0	18247	275	10	4	1474	4	ZNF90	19	20229823	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	1945136	20229823	38899160	339	1812											
ZNF208	7757	genome.wustl.edu	37	chr19	22155412	22155412	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaaggttttgccacattcTtcacatttgtagggtttctc	8	17	7	9	0	3	0	1	0	2	0	4	0	3	0	1	2	1	3	1	2	3	8			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:22155412T>C	ENST00000397126.4	-	4	2572	c.2424A>G	c.(2422-2424)gaA>gaG	p.E808E	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGCCACATTCTTCACATTTGT	0.378																																																	0													54	64	61					19																	22155412		2092	4242	6334	SO:0001819	synonymous_variant	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2424A>G	19.37:g.22155412T>C				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E808	ENST00000397126.4	37	c.2424	CCDS54240.1	19																																																																																			ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	64	0	T	NM_007153		22155412	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	silent	18.82	69	16	SNP	0.000	C	C	22155412	T	C	22155412	2	2	6	1	0	0	0	0	0	0	0	1	17814	1606	56	4		4	ZNF208	19	22155412	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	1925589	22155412	36973571	340	1813											
ZNF257	113835	genome.wustl.edu	37	chr19	22271914	22271914	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacataagataattcatacTggagagaaaccctacaaatg	18	8	7	8	1	1	2	1	0	0	2	1	5	1	3	1	1	3	0	1	1	6	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:22271914T>G	ENST00000594947.1	+	4	1506	c.1362T>G	c.(1360-1362)acT>acG	p.T454T		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAATTCATACTGGAGAGAAAC	0.388																																																	0													41	46	44					19																	22271914		2120	4251	6371	SO:0001819	synonymous_variant	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1362T>G	19.37:g.22271914T>G			B3KPS4|E9PG34|Q8NE34	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T454	ENST00000594947.1	37	c.1362	CCDS46030.1	19																																																																																			ZNF257	-	pfscan_Znf_C2H2	ENSG00000197134		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	37	0	T			22271914	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.994	G	G	22271914	T	G	22271914	2	3	6	1	0	0	0	0	0	0	0	1	17848	1567	55	4		4	ZNF257	19	22271914	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	116502	22271914	36857069	341	1814											
NPHS1	4868	genome.wustl.edu	37	chr19	36322231	36322231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccgctctcctgtccaCtggctctcctcatattcgtt	3	15	7	16	2	3	0	1	0	2	0	8	0	5	0	4	1	0	3	4	1	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:36322231C>G	ENST00000378910.5	-	26	3353	c.3354G>C	c.(3352-3354)caG>caC	p.Q1118H	NPHS1_ENST00000353632.6_Missense_Mutation_p.Q1078H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1118					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCTGTCCACTGGCTCTCCT	0.632																																																	0													95	88	91					19																	36322231		2203	4300	6503	SO:0001583	missense	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3354G>C	19.37:g.36322231C>G	ENSP00000368190:p.Gln1118His		A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q1118H	ENST00000378910.5	37	c.3354	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	C	8.802	0.933146	0.18131	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.74526	-0.82;-0.85	5.07	4.01	0.46588	.	0.229124	0.40064	N	0.001184	T	0.62648	0.2445	N	0.24115	0.695	0.28798	N	0.89892	B	0.33379	0.41	B	0.38712	0.28	T	0.63332	-0.6661	10	0.72032	D	0.01	-12.9898	9.6054	0.39630	0.0:0.903:0.0:0.097	.	1118	O60500	NPHN_HUMAN	H	1118;1078	ENSP00000368190:Q1118H;ENSP00000343634:Q1078H	ENSP00000343634:Q1078H	Q	-	3	2	NPHS1	41014071	0.980000	0.34600	0.998000	0.56505	0.091000	0.18340	0.190000	0.17057	2.651000	0.90000	0.442000	0.29010	CAG	NPHS1	-	NULL	ENSG00000161270		0.632	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	-	0	52	0	C			36322231	-1	tier1	-	no_errors	ENST00000378910	ensembl	human	known	74_37	missense	20.78	61	16	SNP	0.993	G	G	36322231	C	G	36322231	3	3	6	1	0	0	0	0	1	0	0	0	10621	564	20	5	387	5	NPHS1	19	36322231	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	14050317	36322231	22806752	342	1815											
ZNF585A	199704	genome.wustl.edu	37	chr19	37643365	37643365	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgatgtgtaatgagatttGaccggttggtgaatgccttc	8	15	12	6	1	1	4	0	4	1	1	2	5	1	4	2	2	1	2	2	2	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:37643365G>C	ENST00000356958.4	-	5	1694	c.1436C>G	c.(1435-1437)tCa>tGa	p.S479*	ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.S424*|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.S424*			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGAGATTTGACCGGTTGGT	0.403																																																	0													102	100	101					19																	37643365		2203	4300	6503	SO:0001587	stop_gained	0			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"Zinc fingers, C2H2-type", "-"	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1436C>G	19.37:g.37643365G>C	ENSP00000349440:p.Ser479*		Q8TE95|Q96MV3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S479*	ENST00000356958.4	37	c.1436		19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284764	0.80803	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	.	.	.	2.72	1.51	0.23008	.	0.000000	0.30979	N	0.008483	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.3997	0.32579	0.0:0.0:0.7676:0.2324	.	.	.	.	X	479;424;424	.	ENSP00000292841:S424X	S	-	2	0	ZNF585A	42335205	0.000000	0.05858	0.277000	0.24703	0.111000	0.19643	0.223000	0.17719	1.517000	0.48917	0.561000	0.74099	TCA	ZNF585A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196967		0.403	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	-	0	83	0	G	NM_152655		37643365	-1	tier1	-	no_errors	ENST00000356958	ensembl	human	known	74_37	nonsense	33.62	77	39	SNP	0.000	C	C	37643365	G	C	37643365	4	2	6	1	0	0	0	0	0	1	0	0	18065	1294	45	5	877	5	ZNF585A	19	37643365	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1321134	37643365	21485618	343	1816											
ZNF527	84503	genome.wustl.edu	37	chr19	37879856	37879856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagtggagaaaaaccatAtgcatgcaatgactgtggaa	16	8	10	7	0	1	2	1	1	0	1	1	4	1	3	1	2	3	2	1	2	5	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:37879856A>G	ENST00000436120.2	+	5	1012	c.905A>G	c.(904-906)tAt>tGt	p.Y302C	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	302					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y302>?(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAAACCATATGCATGCAAT	0.393																																																	1	Complex(1)	lung(1)											105	96	99					19																	37879856		2093	4241	6334	SO:0001583	missense	0			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"Zinc fingers, C2H2-type", "-"	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.905A>G	19.37:g.37879856A>G	ENSP00000390179:p.Tyr302Cys		B4DVL5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y302C	ENST00000436120.2	37	c.905	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	A	2.120	-0.401673	0.04865	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.19	2.11	0.27256	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.557068	0.13635	N	0.373399	T	0.49983	0.1589	M	0.88704	2.975	0.09310	N	0.999999	B;B	0.17038	0.02;0.016	B;B	0.16722	0.016;0.009	T	0.53704	-0.8401	9	0.72032	D	0.01	.	3.9384	0.09316	0.6603:0.0:0.1838:0.1559	.	302;270	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	C	302;270;250	.	ENSP00000325231:Y270C	Y	+	2	0	ZNF527	42571696	0.000000	0.05858	0.042000	0.18584	0.284000	0.27059	-0.422000	0.07043	0.193000	0.20303	-0.274000	0.10170	TAT	ZNF527	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189164		0.393	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1		0	29	0	A	NM_032453		37879856	1			no_errors	ENST00000436120	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.002	G	G	37879856	A	G	37879856	3	3	6	1	0	0	0	0	1	0	0	0	18016	449	16	4	919	4	ZNF527	19	37879856	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	236491	37879856	21249127	344	1817											
ZNF570	148268	genome.wustl.edu	37	chr19	37975773	37975773	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaaaaccttataagtgtCaggaatgtaggaaagcattc	17	9	10	5	0	1	1	1	0	0	1	2	4	1	3	1	2	2	2	1	2	7	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:37975773C>T	ENST00000330173.1	+	5	1778	c.1249C>T	c.(1249-1251)Cag>Tag	p.Q417*	ZNF570_ENST00000388801.3_Nonsense_Mutation_p.Q214*|ZNF570_ENST00000586475.1_Nonsense_Mutation_p.Q473*	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTATAAGTGTCAGGAATGTAG	0.428																																																	0													94	96	95					19																	37975773		2203	4300	6503	SO:0001587	stop_gained	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1249C>T	19.37:g.37975773C>T	ENSP00000331540:p.Gln417*		A1L472|B4DMP1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q417*	ENST00000330173.1	37	c.1249	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	C	40	8.141913	0.98675	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	.	.	.	4.11	1.69	0.24217	.	0.828074	0.10115	N	0.714143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9053	0.18998	0.3361:0.5674:0.0:0.0966	.	.	.	.	X	417;214	.	ENSP00000331540:Q417X	Q	+	1	0	ZNF570	42667613	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	-0.527000	0.06200	1.023000	0.39654	0.462000	0.41574	CAG	ZNF570	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.428	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0	42	0	C	NM_144694		37975773	1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	nonsense	11.29	55	7	SNP	0.094	T	T	37975773	C	T	37975773	4	4	6	1	0	0	0	0	0	1	0	0	18050	827	29	3	1263	3	ZNF570	19	37975773	Nonsense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	95917	37975773	21153210	345	1818											
ZFP30	22835	genome.wustl.edu	37	chr19	38126131	38126131	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacattccttacacttaaaGggtttctcaccaaaatgaat	14	13	4	10	0	2	1	2	1	1	0	4	1	3	1	2	1	1	1	2	1	6	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:38126131G>T	ENST00000351218.2	-	6	1868	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZFP30_ENST00000514101.2_Silent_p.P437P|ZFP30_ENST00000392144.1_Silent_p.P437P|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACACTTAAAGGGTTTCTCAC	0.383																																																	0													68	64	65					19																	38126131		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1311C>A	19.37:g.38126131G>T			Q58EY8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P437	ENST00000351218.2	37	c.1311	CCDS33005.1	19																																																																																			ZFP30	-	pfscan_Znf_C2H2	ENSG00000120784		0.383	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0	37	0	G	NM_014898		38126131	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	silent	11.11	40	5	SNP	0.995	T	T	38126131	G	T	38126131	2	4	6	1	0	0	0	0	0	0	0	1	17692	987	35	3		3	ZFP30	19	38126131	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	150358	38126131	21002852	346	1819											
ZNF781	163115	genome.wustl.edu	37	chr19	38160930	38160930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacgctttctaaagggCtttccacatatctgacattc	9	13	8	11	1	2	1	0	1	2	0	4	1	3	1	1	2	0	3	1	2	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:38160930C>T	ENST00000590008.1	-	5	972	c.120G>A	c.(118-120)aaG>aaA	p.K40K	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.K40K			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TTCTAAAGGGCTTTCCACATA	0.378																																																	0													182	176	178					19																	38160930		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"Zinc fingers, C2H2-type"	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.120G>A	19.37:g.38160930C>T			Q2VPJ8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K40	ENST00000590008.1	37	c.120	CCDS12507.1	19																																																																																			ZNF781	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196381		0.378	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF781	HGNC	protein_coding	OTTHUMT00000459495.2	-	0	53	0	C	NM_152605		38160930	-1	tier1	-	no_errors	ENST00000358582	ensembl	human	known	74_37	silent	12.20	72	10	SNP	0.429	T	T	38160930	C	T	38160930	2	4	6	1	0	0	0	0	0	0	0	1	18202	796	28	3		3	ZNF781	19	38160930	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	34799	38160930	20968053	347	1820											
HNRNPL	3191	genome.wustl.edu	37	chr19	39327400	39327400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagaaacacaacttcaGagtgtaagggtatggaccat	15	8	12	6	0	1	2	1	0	0	2	1	4	1	3	1	3	2	2	1	3	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:39327400G>T	ENST00000221419.5	-	13	2098	c.1732C>A	c.(1732-1734)Ctg>Atg	p.L578M	AC104534.3_ENST00000594769.1_Intron|HNRNPL_ENST00000600873.1_Missense_Mutation_p.L445M	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	578	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CACAACTTCAGAGTGTAAGGG	0.493																																																	0													203	181	188					19																	39327400		2203	4300	6503	SO:0001583	missense	0			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"RNA binding motif (RRM) containing"	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1732C>A	19.37:g.39327400G>T	ENSP00000221419:p.Leu578Met		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L578M	ENST00000221419.5	37	c.1732	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187947	0.78789	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	L	0.46741	1.465	0.80722	D	1	D	0.64830	0.994	D	0.70935	0.971	T	0.71623	-0.4537	9	0.45353	T	0.12	.	18.6545	0.91445	0.0:0.0:1.0:0.0	.	578	P14866	HNRPL_HUMAN	M	578;445;445	.	ENSP00000221419:L578M	L	-	1	2	HNRNPL	44019240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.404000	0.79996	2.941000	0.99782	0.655000	0.94253	CTG	HNRNPL	-	tigrfam_HnRNP-L_PTB	ENSG00000104824		0.493	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	-	0	51	0	G			39327400	-1	tier1	-	no_errors	ENST00000221419	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	39327400	G	T	39327400	3	4	6	1	0	0	0	0	1	0	0	0	7297	933	33	3	41	3	HNRNPL	19	39327400	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1166470	39327400	19801583	348	1821											
AXL	558	genome.wustl.edu	37	chr19	41765522	41765522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagttttacagagctgCgggaagatttggagaacaca	13	8	13	7	1	0	3	0	0	0	3	0	5	0	4	1	3	4	2	1	3	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:41765522C>T	ENST00000301178.4	+	20	2588	c.2398C>T	c.(2398-2400)Cgg>Tgg	p.R800W	HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000359092.3_Missense_Mutation_p.R791W|HNRNPUL1_ENST00000352456.3_5'Flank|AXL_ENST00000593513.1_Missense_Mutation_p.R532W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	800	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TACAGAGCTGCGGGAAGATTT	0.547																																																	0													69	73	72					19																	41765522		2203	4300	6503	SO:0001583	missense	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2398C>T	19.37:g.41765522C>T	ENSP00000301178:p.Arg800Trp		Q8N5L2|Q9UD27	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R800W	ENST00000301178.4	37	c.2398	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953759	0.73902	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.62639	0.01;0.01	4.85	3.8	0.43715	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.146245	0.45606	D	0.000351	T	0.73729	0.3624	M	0.71581	2.175	0.36365	D	0.860967	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.78748	-0.2083	10	0.87932	D	0	-28.3811	7.201	0.25881	0.1719:0.7409:0.0:0.0872	.	791;800	P30530-2;P30530	.;UFO_HUMAN	W	800;791	ENSP00000301178:R800W;ENSP00000351995:R791W	ENSP00000301178:R800W	R	+	1	2	AXL	46457362	0.760000	0.28428	0.992000	0.48379	0.995000	0.86356	1.508000	0.35769	1.224000	0.43551	0.591000	0.81541	CGG	AXL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167601		0.547	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	-	0	43	0	C			41765522	1	tier1	-	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	9.84	55	6	SNP	0.999	T	T	41765522	C	T	41765522	3	4	6	1	0	0	0	0	1	0	0	0	1239	759	27	1	2476	1	AXL	19	41765522	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2438122	41765522	17363461	349	1822											
EXOC3L2	90332	genome.wustl.edu	37	chr19	45716562	45716562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccaggatctcctggcggGcggctgtgttgcgcaggcca	4	7	17	13	4	1	0	0	0	1	0	2	1	1	1	3	6	1	3	3	6	0	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:45716562G>C	ENST00000252482.3	-	9	1022	c.995C>G	c.(994-996)gCc>gGc	p.A332G	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Missense_Mutation_p.A332G			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	332					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CTCCTGGCGGGCGGCTGTGTT	0.652																																																	0													39	42	41					19																	45716562		2203	4300	6503	SO:0001583	missense	0			AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.995C>G	19.37:g.45716562G>C	ENSP00000252482:p.Ala332Gly		Q8N9W2|Q96GV2	Missense_Mutation	SNP	pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C	p.A332G	ENST00000252482.3	37	c.995	CCDS12657.1	19	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174347	0.57692	.	.	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.07021	3.23;3.23	4.53	3.46	0.39613	.	0.233267	0.34802	N	0.003671	T	0.14098	0.0341	L	0.60455	1.87	0.24919	N	0.992	P	0.52170	0.951	P	0.51615	0.675	T	0.08351	-1.0726	10	0.23302	T	0.38	.	10.381	0.44113	0.0:0.1998:0.8002:0.0	.	332	Q2M3D2	EX3L2_HUMAN	G	332	ENSP00000252482:A332G;ENSP00000400713:A332G	ENSP00000252482:A332G	A	-	2	0	EXOC3L2	50408402	1.000000	0.71417	0.858000	0.33744	0.741000	0.42261	2.444000	0.44890	0.860000	0.35481	0.455000	0.32223	GCC	EXOC3L2	-	pfam_Sec6	ENSG00000130201		0.652	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L2	HGNC	protein_coding	OTTHUMT00000338073.1	-	0	45	0	G	NM_138568		45716562	-1	tier1	-	no_errors	ENST00000252482	ensembl	human	known	74_37	missense	10.53	102	12	SNP	0.972	C	C	45716562	G	C	45716562	3	2	6	1	0	0	0	0	1	0	0	0	5321	1203	42	5	238	5	EXOC3L2	19	45716562	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3951040	45716562	13412421	350	1823											
EML2	24139	genome.wustl.edu	37	chr19	46128025	46128025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtcccccgtgaccacgtCgccaccttccaaaaaggtca	11	6	8	16	3	1	2	1	1	0	1	4	2	3	2	6	1	0	0	6	1	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:46128025C>T	ENST00000245925.3	-	9	843	c.793G>A	c.(793-795)Gac>Aac	p.D265N	EML2_ENST00000587152.1_Missense_Mutation_p.D466N|EML2_ENST00000536630.1_Missense_Mutation_p.D412N|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Missense_Mutation_p.D265N	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	265	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTGACCACGTCGCCACCTTCC	0.527																																																	0													93	67	76					19																	46128025		2203	4300	6503	SO:0001583	missense	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.793G>A	19.37:g.46128025C>T	ENSP00000245925:p.Asp265Asn		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D466N	ENST00000245925.3	37	c.1396	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218375	0.58560	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.28666	1.6;1.71;5.07	4.09	3.05	0.35203	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	M	0.75447	2.3	0.58432	D	0.999998	P;P;P;B	0.51240	0.846;0.599;0.943;0.258	B;B;B;B	0.35470	0.185;0.084;0.203;0.05	T	0.15838	-1.0423	10	0.49607	T	0.09	-4.2057	9.498	0.38999	0.0:0.8937:0.0:0.1063	.	265;431;412;265	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	N	412;265;466;423	ENSP00000442365:D412N;ENSP00000245925:D265N;ENSP00000382503:D423N	ENSP00000245925:D265N	D	-	1	0	EML2	50819865	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.169000	0.77578	0.941000	0.37499	-0.142000	0.14014	GAC	EML2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000125746		0.527	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	-	0	38	0	C	NM_012155		46128025	-1	tier1	-	no_errors	ENST00000587152	ensembl	human	known	74_37	missense	22.54	55	16	SNP	1.000	T	T	46128025	C	T	46128025	3	4	6	1	0	0	0	0	1	0	0	0	5113	884	31	1	1200	1	EML2	19	46128025	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	411463	46128025	13000958	351	1824											
PIH1D1	55011	genome.wustl.edu	37	chr19	49952776	49952776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccagactcatggggatgCgaaacccagcttggtcctcc	8	8	10	15	1	1	1	1	0	0	1	4	3	4	2	4	3	3	1	4	3	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:49952776C>T	ENST00000262265.5	-	3	528	c.293G>A	c.(292-294)cGc>cAc	p.R98H	PIH1D1_ENST00000602226.1_5'Flank|PIH1D1_ENST00000596049.1_Missense_Mutation_p.R98H	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	98					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CATGGGGATGCGAAACCCAGC	0.592																																																	0													120	106	111					19																	49952776		2203	4300	6503	SO:0001583	missense	0			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.293G>A	19.37:g.49952776C>T	ENSP00000262265:p.Arg98His		B4DGN7|B4E2X7|Q9BVL0	Missense_Mutation	SNP	pfam_PIH	p.R98H	ENST00000262265.5	37	c.293	CCDS12765.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046206	0.75846	.	.	ENSG00000104872	ENST00000262265	T	0.22134	1.97	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	M	0.74389	2.26	0.53688	D	0.999971	P;D	0.76494	0.789;0.999	B;D	0.64687	0.186;0.928	T	0.44128	-0.9348	10	0.87932	D	0	-13.0615	14.3008	0.66352	0.0:1.0:0.0:0.0	.	98;98	B4DGN7;Q9NWS0	.;PIHD1_HUMAN	H	98	ENSP00000262265:R98H	ENSP00000262265:R98H	R	-	2	0	PIH1D1	54644588	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.453000	0.52978	2.437000	0.82529	0.655000	0.94253	CGC	PIH1D1	-	pfam_PIH	ENSG00000104872		0.592	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D1	HGNC	protein_coding	OTTHUMT00000465389.2	-	0	44	0	C	NM_017916		49952776	-1	tier1	-	no_errors	ENST00000262265	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	49952776	C	T	49952776	3	4	6	1	0	0	0	0	1	0	0	0	11945	768	27	1	607	1	PIH1D1	19	49952776	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	3824751	49952776	9176207	352	1825											
TBC1D17	79735	genome.wustl.edu	37	chr19	50385558	50385558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcccgagtgaccaacttCttccggggtgccctgcagcc	5	10	10	16	2	2	1	0	1	2	0	4	2	3	1	5	2	4	1	5	2	1	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:50385558C>G	ENST00000221543.5	+	7	998	c.699C>G	c.(697-699)ttC>ttG	p.F233L	TBC1D17_ENST00000535102.2_Missense_Mutation_p.F200L	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	233	Required for interaction with OPTN.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGACCAACTTCTTCCGGGGTG	0.657																																																	0													78	80	79					19																	50385558		2203	4300	6503	SO:0001583	missense	0			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.699C>G	19.37:g.50385558C>G	ENSP00000221543:p.Phe233Leu		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.F233L	ENST00000221543.5	37	c.699	CCDS12785.1	19	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490665	0.64074	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.10763	2.87;2.84	4.9	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.15739	0.0379	L	0.55743	1.74	0.44579	D	0.997545	P;P	0.49862	0.929;0.609	P;B	0.53549	0.729;0.119	T	0.02047	-1.1223	10	0.38643	T	0.18	-37.2761	5.38	0.16186	0.0:0.6804:0.0:0.3196	.	200;233	F5H1W7;Q9HA65	.;TBC17_HUMAN	L	233;200	ENSP00000221543:F233L;ENSP00000446323:F200L	ENSP00000221543:F233L	F	+	3	2	TBC1D17	55077370	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.064000	0.30579	1.311000	0.45024	0.563000	0.77884	TTC	TBC1D17	-	NULL	ENSG00000104946		0.657	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D17	HGNC	protein_coding	OTTHUMT00000466404.1	-	0	50	0	C	NM_024682		50385558	1	tier1	-	no_errors	ENST00000221543	ensembl	human	known	74_37	missense	8.93	102	10	SNP	1.000	G	G	50385558	C	G	50385558	3	3	6	1	0	0	0	0	1	0	0	0	15653	912	32	5	725	5	TBC1D17	19	50385558	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	432782	50385558	8743425	353	1826											
ZNF610	162963	genome.wustl.edu	37	chr19	52869351	52869351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtactgaatgtggcaaggtCttcagtcgcaattcacacct	10	12	9	10	1	3	1	2	1	1	0	4	1	3	1	1	2	1	3	1	2	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:52869351C>T	ENST00000403906.3	+	6	1176	c.720C>T	c.(718-720)gtC>gtT	p.V240V	ZNF610_ENST00000321287.8_Silent_p.V240V|ZNF610_ENST00000327920.8_Silent_p.V240V|ZNF610_ENST00000601151.1_Silent_p.V197V	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTGGCAAGGTCTTCAGTCGCA	0.398																																																	0													68	67	68					19																	52869351		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"Zinc fingers, C2H2-type", "-"	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.720C>T	19.37:g.52869351C>T			A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V240	ENST00000403906.3	37	c.720	CCDS12851.1	19																																																																																			ZNF610	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167554		0.398	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF610	HGNC	protein_coding	OTTHUMT00000462880.1	-	0	56	0	C	NM_173530		52869351	1	tier1	-	no_errors	ENST00000321287	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.019	T	T	52869351	C	T	52869351	2	4	6	1	0	0	0	0	0	0	0	1	18084	900	32	3		3	ZNF610	19	52869351	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2483793	52869351	6259632	354	1827											
ZNF677	342926	genome.wustl.edu	37	chr19	53741686	53741686	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggcatattttcccagacTtccttgaggtcaaaattgtt	10	16	7	8	0	1	2	1	1	0	1	3	2	3	2	2	2	0	2	2	2	4	8	rs201826579		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:53741686T>G	ENST00000598513.1	-	5	444	c.294A>C	c.(292-294)gaA>gaC	p.E98D	ZNF677_ENST00000333952.4_Missense_Mutation_p.E98D|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTCCCAGACTTCCTTGAGGT	0.363																																																	0													95	90	92					19																	53741686		2203	4299	6502	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.294A>C	19.37:g.53741686T>G	ENSP00000469391:p.Glu98Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E98D	ENST00000598513.1	37	c.294	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	T	8.698	0.909117	0.17833	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.08984	3.03	2.29	-0.0502	0.13831	.	0.939528	0.08720	N	0.903575	T	0.04679	0.0127	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.46020	-0.9221	10	0.30078	T	0.28	.	0.2891	0.00256	0.2329:0.1446:0.2391:0.3834	.	98	Q86XU0	ZN677_HUMAN	D	98	ENSP00000334394:E98D	ENSP00000334394:E98D	E	-	3	2	ZNF677	58433498	0.000000	0.05858	0.015000	0.15790	0.076000	0.17211	-0.430000	0.06973	-0.087000	0.12528	-0.316000	0.08728	GAA	ZNF677	-	NULL	ENSG00000197928		0.363	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0	62	0	T	NM_182609		53741686	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	40.96	49	34	SNP	0.064	G	G	53741686	T	G	53741686	3	3	6	1	0	0	0	0	1	0	0	0	18132	1606	56	4	1464	4	ZNF677	19	53741686	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	872335	53741686	5387297	355	1828											
ZNF606	80095	genome.wustl.edu	37	chr19	58491553	58491553	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaccaaggatcatcccaTatatatctttccaacttcat	14	12	4	11	0	3	1	2	0	1	1	5	3	5	2	3	1	2	0	3	1	6	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:58491553T>C	ENST00000341164.4	-	7	1115	c.495A>G	c.(493-495)atA>atG	p.I165M	ZNF606_ENST00000536132.1_Missense_Mutation_p.I75M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GATCATCCCATATATATCTTT	0.408																																																	0													127	117	120					19																	58491553		2203	4300	6503	SO:0001583	missense	0			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.495A>G	19.37:g.58491553T>C	ENSP00000343617:p.Ile165Met		A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I165M	ENST00000341164.4	37	c.495	CCDS12968.1	19	.	.	.	.	.	.	.	.	.	.	T	6.658	0.489837	0.12702	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.22336	1.96;3.1;1.96	4.76	2.6	0.31112	.	0.341582	0.21618	N	0.071685	T	0.10809	0.0264	N	0.22421	0.69	0.23271	N	0.998004	B	0.34015	0.435	B	0.27608	0.081	T	0.18967	-1.0320	10	0.48119	T	0.1	.	4.8516	0.13540	0.1651:0.0923:0.0:0.7426	.	165	Q8WXB4	ZN606_HUMAN	M	165;75;165	ENSP00000343617:I165M;ENSP00000445624:I75M;ENSP00000446972:I165M	ENSP00000343617:I165M	I	-	3	3	ZNF606	63183365	0.993000	0.37304	0.998000	0.56505	0.992000	0.81027	0.023000	0.13533	0.292000	0.22492	0.533000	0.62120	ATA	ZNF606	-	NULL	ENSG00000166704		0.408	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	HGNC	protein_coding	OTTHUMT00000405961.1	-	0	35	0	T	NM_025027		58491553	-1	tier1	-	no_errors	ENST00000341164	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.995	C	C	58491553	T	C	58491553	3	2	6	1	0	0	0	0	1	0	0	0	18080	1396	49	4	1887	4	ZNF606	19	58491553	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	4749867	58491553	637430	356	1829											
MZF1	7593	genome.wustl.edu	37	chr19	59081731	59081731	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagtcctctgtaacctctGactcctctttcacctgcagg	6	13	7	15	0	4	2	1	2	3	0	6	2	6	2	4	1	2	2	4	1	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr19:59081731G>C	ENST00000215057.2	-	3	1120	c.560C>G	c.(559-561)tCa>tGa	p.S187*	MZF1_ENST00000594234.1_Nonsense_Mutation_p.S187*|MZF1_ENST00000599369.1_Nonsense_Mutation_p.S187*|MZF1_ENST00000594108.1_Nonsense_Mutation_p.S187*|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	187					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGTAACCTCTGACTCCTCTTT	0.602																																																	0													145	137	139					19																	59081731		2203	4300	6503	SO:0001587	stop_gained	0			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.560C>G	19.37:g.59081731G>C	ENSP00000215057:p.Ser187*		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S187*	ENST00000215057.2	37	c.560	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	39	7.818760	0.98507	.	.	ENSG00000099326	ENST00000215057	.	.	.	4.78	3.7	0.42460	.	0.408897	0.18101	N	0.151686	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4814	10.2359	0.43284	0.0:0.0:0.8022:0.1978	.	.	.	.	X	187	.	.	S	-	2	0	MZF1	63773543	0.000000	0.05858	0.132000	0.22025	0.590000	0.36582	-0.268000	0.08607	1.302000	0.44855	0.655000	0.94253	TCA	MZF1	-	NULL	ENSG00000099326		0.602	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	-	0	37	0	G	NM_198055		59081731	-1	tier1	-	no_errors	ENST00000215057	ensembl	human	known	74_37	nonsense	8.20	55	5	SNP	0.285	C	C	59081731	G	C	59081731	4	2	6	1	0	0	0	0	0	1	0	0	10146	1294	45	5	1660	5	MZF1	19	59081731	Nonsense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	590178	59081731	47252	357	1830											
SIRPG	55423	genome.wustl.edu	37	chr20	1629814	1629814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggggtgatgctactgatgCggatggaaaagtccatgttg	9	11	15	6	1	0	2	0	2	0	0	1	4	1	4	1	4	3	2	1	4	3	2	rs200001337		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:1629814C>T	ENST00000303415.3	-	2	378	c.314G>A	c.(313-315)cGc>cAc	p.R105H	SIRPG_ENST00000381583.2_Missense_Mutation_p.R105H|SIRPG_ENST00000216927.4_Missense_Mutation_p.R105H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.R72H|SIRPG_ENST00000344103.4_Missense_Mutation_p.R105H	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	105	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCTACTGATGCGGATGGAAAA	0.483																																																	0													310	255	274					20																	1629814		2203	4300	6503	SO:0001583	missense	0			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.314G>A	20.37:g.1629814C>T	ENSP00000305529:p.Arg105His		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R105H	ENST00000303415.3	37	c.314	CCDS13020.2	20	.	.	.	.	.	.	.	.	.	.	.	5.089	0.202128	0.09652	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	1.93	0.97	0.19692	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198861	0.36167	N	0.002741	T	0.45276	0.1334	N	0.26130	0.795	0.39890	D	0.973759	B;B;B	0.23854	0.092;0.091;0.063	B;B;B	0.20384	0.01;0.01;0.029	T	0.19451	-1.0305	10	0.35671	T	0.21	.	4.4718	0.11715	0.0:0.7972:0.0:0.2028	.	105;105;105	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	H	72;105;105;105;105	ENSP00000370992:R72H;ENSP00000342759:R105H;ENSP00000305529:R105H;ENSP00000370995:R105H;ENSP00000216927:R105H	ENSP00000216927:R105H	R	-	2	0	SIRPG	1577814	0.435000	0.25577	0.963000	0.40424	0.349000	0.29174	-1.065000	0.03458	0.378000	0.24764	0.195000	0.17529	CGC	SIRPG	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000089012		0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	-	0	144	0	C	NM_018556		1629814	-1	tier1	rs200001337	no_errors	ENST00000303415	ensembl	human	known	74_37	missense	23.29	112	34	SNP	0.969	T	T	1629814	C	T	1629814	3	4	6	1	0	0	0	0	1	0	0	0	14381	768	27	1	865	1	SIRPG	20	1629814	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09		1629814	61395706	358	1831											
PANK2	80025	genome.wustl.edu	37	chr20	3899433	3899433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagttgaaagcacttttttCggaacacgaggtaagctgac	12	10	11	8	2	0	2	0	2	0	0	1	4	0	3	0	2	3	5	0	2	3	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:3899433C>T	ENST00000316562.4	+	6	1658	c.1652C>T	c.(1651-1653)tCg>tTg	p.S551L	MIR103A2_ENST00000362154.1_RNA|PANK2_ENST00000497424.1_Missense_Mutation_p.S260L|PANK2_ENST00000610179.1_Missense_Mutation_p.S428L	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	551					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCACTTTTTTCGGAACACGAG	0.443																																																	0													234	230	231					20																	3899433		2203	4300	6503	SO:0001583	missense	0			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1652C>T	20.37:g.3899433C>T	ENSP00000313377:p.Ser551Leu		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.S551L	ENST00000316562.4	37	c.1652	CCDS13071.2	20	.	.	.	.	.	.	.	.	.	.	C	6.976	0.550151	0.13374	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.98747	-5.11;-5.11	5.12	3.16	0.36331	.	0.084010	0.49916	D	0.000133	T	0.79730	0.4496	N	0.00002	-3.635	0.31464	N	0.669179	B	0.12630	0.006	B	0.04013	0.001	T	0.82244	-0.0553	10	0.02654	T	1	.	5.2144	0.15334	0.0:0.6513:0.1704:0.1783	.	551	Q9BZ23	PANK2_HUMAN	L	260;551;367	ENSP00000417609:S260L;ENSP00000313377:S551L	ENSP00000313377:S551L	S	+	2	0	PANK2	3847433	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	5.966000	0.70395	0.719000	0.32188	0.655000	0.94253	TCG	PANK2	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000125779		0.443	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2		0	56	0	C	NM_024960		3899433	1			no_errors	ENST00000316562	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.978	T	T	3899433	C	T	3899433	3	4	6	1	0	0	0	0	1	0	0	0	11456	893	31	1	1674	1	PANK2	20	3899433	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	2269619	3899433	59126087	359	1832											
TRMT6	51605	genome.wustl.edu	37	chr20	5922605	5922605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaacgcacccatctgcGtttctttcactcagcagagc	9	10	6	16	2	5	1	3	0	2	1	5	1	5	1	2	0	4	3	2	0	1	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:5922605G>T	ENST00000203001.2	-	8	1234	c.1104C>A	c.(1102-1104)aaC>aaA	p.N368K	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.N198K	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	368					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.N368N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACCCATCTGCGTTTCTTTCAC	0.453																																																	1	Substitution - coding silent(1)	large_intestine(1)											235	226	229					20																	5922605		2203	4300	6503	SO:0001583	missense	0			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1104C>A	20.37:g.5922605G>T	ENSP00000203001:p.Asn368Lys		B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase	p.N368K	ENST00000203001.2	37	c.1104	CCDS13093.1	20	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312671	0.60414	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.21932	2.0;1.98	6.17	-10.3	0.00346	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	L	0.28649	0.875	0.51012	D	0.999902	D	0.89917	1.0	D	0.77557	0.99	T	0.71909	-0.4450	10	0.07813	T	0.8	-26.5267	20.2849	0.98532	0.825:0.0:0.175:0.0	.	368	Q9UJA5	TRM6_HUMAN	K	368;198	ENSP00000203001:N368K;ENSP00000392070:N198K	ENSP00000203001:N368K	N	-	3	2	TRMT6	5870605	0.595000	0.26857	0.533000	0.28001	0.606000	0.37113	-0.090000	0.11163	-1.836000	0.01190	-1.623000	0.00790	AAC	TRMT6	-	pirsf_tRNA_m1A_mtfrase	ENSG00000089195		0.453	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT6	HGNC	protein_coding	OTTHUMT00000077889.2		0	29	0	G			5922605	-1			no_errors	ENST00000203001	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.417	T	T	5922605	G	T	5922605	3	4	6	1	0	0	0	0	1	0	0	0	16616	1136	40	2	405	2	TRMT6	20	5922605	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2023172	5922605	57102915	360	1833											
MACROD2	140733	genome.wustl.edu	37	chr20	15843407	15843407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggtggatcggatcattttCtgtgtcttcttagaagttga	8	17	11	5	1	4	2	1	1	3	1	5	4	4	4	0	3	0	1	0	3	3	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:15843407C>T	ENST00000310348.4	+	9	663	c.663C>T	c.(661-663)ttC>ttT	p.F221F	MACROD2_ENST00000378058.3_5'Flank|MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Silent_p.F221F			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	221	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGATCATTTTCTGTGTCTTCT	0.348																																																	0													104	105	104					20																	15843407		2203	4299	6502	SO:0001819	synonymous_variant	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.663C>T	20.37:g.15843407C>T			A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.F221	ENST00000310348.4	37	c.663	CCDS13120.2	20																																																																																			MACROD2	-	pfscan_Macro_dom	ENSG00000172264		0.348	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	0	41	0	C	NM_080676		15843407	1	tier1	-	no_errors	ENST00000310348	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T	T	15843407	C	T	15843407	2	4	6	1	0	0	0	0	0	0	0	1	9182	912	32	3		3	MACROD2	20	15843407	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	9920802	15843407	47182113	361	1834											
OTOR	56914	genome.wustl.edu	37	chr20	16730646	16730646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagctaccaaggaagtTcccaccacggtaagcatctc	13	6	9	13	1	1	0	0	0	1	0	3	2	2	2	3	3	3	4	3	3	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:16730646T>C	ENST00000246081.2	+	3	398	c.354T>C	c.(352-354)gtT>gtC	p.V118V	OTOR_ENST00000486129.1_3'UTR	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	118					cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)		p.V118V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CCAAGGAAGTTCCCACCACGG	0.483																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											97	74	82					20																	16730646		2203	4300	6503	SO:0001819	synonymous_variant	0			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.354T>C	20.37:g.16730646T>C			D3DW22|Q3MIU6	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.V118	ENST00000246081.2	37	c.354	CCDS13124.1	20																																																																																			OTOR	-	superfamily_SH3_domain	ENSG00000125879		0.483	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOR	HGNC	protein_coding	OTTHUMT00000078108.2	-	0	43	0	T			16730646	1	tier1	-	no_errors	ENST00000246081	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.856	C	C	16730646	T	C	16730646	2	2	6	1	0	0	0	0	0	0	0	1	11347	1770	62	4		4	OTOR	20	16730646	Silent	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	887239	16730646	46294874	362	1835											
C20orf152	140894	genome.wustl.edu	37	chr20	34571994	34571994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttgcaataaccaaggaCgaggatggcagcagtgcctt	13	7	12	9	1	0	0	0	0	0	0	0	3	0	2	2	3	4	4	2	3	3	3	rs375944438		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:34571994C>T	ENST00000373973.3	+	5	671	c.498C>T	c.(496-498)gaC>gaT	p.D166D	CNBD2_ENST00000538900.1_Silent_p.D166D|CNBD2_ENST00000349339.1_Silent_p.D166D			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	166																	TAACCAAGGACGAGGATGGCA	0.537													T|||	1	0.000199681	0	0	5008	,	,		21812	0		0	False		,,,				2504	0.001																0								T	,	0,4406		0,0,2203	132	106	115		498,498	-4.3	0	20		115	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous,coding-synonymous	C20orf152	NM_001207076.1,NM_080834.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	166/424,166/573	34571994	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.498C>T	20.37:g.34571994C>T			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D166	ENST00000373973.3	37	c.498		20																																																																																			CNBD2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000149646		0.537	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	-	0	55	0	C	NM_080834		34571994	1	tier1	-	no_errors	ENST00000373973	ensembl	human	known	74_37	silent	27.12	43	16	SNP	0.050	T	T	34571994	C	T	34571994	2	4	6	1	0	0	0	0	0	0	0	1	2099	535	19	1		1	C20orf152	20	34571994	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	17841348	34571994	28453526	363	1836											
DHX35	60625	genome.wustl.edu	37	chr20	37634964	37634964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgagcaggacgtggtggtcGtagtcgctcgggaaaatgtt	8	9	17	7	5	0	0	0	0	0	0	3	3	0	2	0	4	1	4	0	4	3	2	rs376591273		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:37634964G>A	ENST00000252011.3	+	12	1220	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	DHX35_ENST00000373323.4_Missense_Mutation_p.R365H|DHX35_ENST00000373325.2_Missense_Mutation_p.R396H	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	396	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CGTGGTGGTCGTAGTCGCTCG	0.507																																																	0													172	165	167					20																	37634964		2203	4300	6503	SO:0001583	missense	0			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1187G>A	20.37:g.37634964G>A	ENSP00000252011:p.Arg396His		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R396H	ENST00000252011.3	37	c.1187	CCDS13310.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.602948	0.96614	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	D;D;D	0.94758	-3.51;-3.51;-3.51	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99060	1.0830	10	0.87932	D	0	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	365;396	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	H	396;396;365	ENSP00000362422:R396H;ENSP00000252011:R396H;ENSP00000362420:R365H	ENSP00000252011:R396H	R	+	2	0	DHX35	37068378	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.751000	0.98889	2.761000	0.94854	0.655000	0.94253	CGT	DHX35	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000101452		0.507	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2		0	43	0	G	NM_021931		37634964	1			no_errors	ENST00000252011	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	37634964	G	A	37634964	3	1	6	1	0	0	0	0	1	0	0	0	4522	1145	40	1	1233	1	DHX35	20	37634964	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	3062970	37634964	25390556	364	1837											
LPIN3	64900	genome.wustl.edu	37	chr20	39976277	39976277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgttcaggagctggAgagcgatgatgtgagtctgc	7	13	14	7	1	3	3	1	2	2	1	3	6	3	4	0	2	3	2	0	2	0	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:39976277A>G	ENST00000373257.3	+	3	369	c.278A>G	c.(277-279)gAg>gGg	p.E93G		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	93	N-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CAGGAGCTGGAGAGCGATGAT	0.577																																																	0													125	119	121					20																	39976277		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.278A>G	20.37:g.39976277A>G	ENSP00000362354:p.Glu93Gly		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.E93G	ENST00000373257.3	37	c.278	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	A	12.42	1.933716	0.34096	.	.	ENSG00000132793	ENST00000373257	T	0.79749	-1.3	5.56	3.33	0.38152	Lipin, N-terminal (1);	0.482191	0.22328	N	0.061519	T	0.76730	0.4028	L	0.56769	1.78	0.31374	N	0.679834	B;B	0.23650	0.089;0.008	B;B	0.33339	0.162;0.015	T	0.72653	-0.4228	9	.	.	.	-7.0655	9.1904	0.37195	0.8514:0.0:0.1486:0.0	.	93;93	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	G	93	ENSP00000362354:E93G	.	E	+	2	0	LPIN3	39409691	1.000000	0.71417	0.795000	0.32087	0.255000	0.26057	7.082000	0.76851	0.936000	0.37367	0.533000	0.62120	GAG	LPIN3	-	pfam_Lipin_N	ENSG00000132793		0.577	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	43	0	A	NM_022896		39976277	1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.974	G	G	39976277	A	G	39976277	3	3	6	1	0	0	0	0	1	0	0	0	8955	304	11	4	284	4	LPIN3	20	39976277	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	2341313	39976277	23049243	365	1838											
WFDC2	10406	genome.wustl.edu	37	chr20	44099056	44099056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaagactggcgtgtGccccgagctccaggctgacc	9	5	14	13	2	0	3	0	1	0	2	1	5	1	3	4	2	3	3	4	2	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:44099056G>A	ENST00000372676.3	+	2	183	c.107G>A	c.(106-108)tGc>tAc	p.C36Y	WFDC2_ENST00000217425.5_Missense_Mutation_p.C36Y|AL031663.1_ENST00000599747.1_Intron|WFDC2_ENST00000339946.3_Intron	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	36	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase inhibitor activity (GO:0019828)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(1)	1		Myeloproliferative disorder(115;0.0122)				ACTGGCGTGTGCCCCGAGCTC	0.677																																																	0													27	24	25					20																	44099056		2195	4295	6490	SO:0001583	missense	0			X63187	CCDS35501.1	20q13.12	2013-01-21			ENSG00000101443	ENSG00000101443		"WAP four-disulfide core domain containing"	15939	protein-coding gene	gene with protein product	"epididymal protein 4"					1686187, 10570965	Standard	NM_006103		Approved	HE4, WAP5, dJ461P17.6, EDDM4	uc002xoo.3	Q14508	OTTHUMG00000032594	ENST00000372676.3:c.107G>A	20.37:g.44099056G>A	ENSP00000361761:p.Cys36Tyr		A2A2A5|A2A2A6|A6PVD5|Q6IB27|Q8WXV9|Q8WXW0|Q8WXW1|Q8WXW2|Q96KJ1	Missense_Mutation	SNP	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core	p.C36Y	ENST00000372676.3	37	c.107	CCDS35501.1	20	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596052	0.46318	.	.	ENSG00000101443	ENST00000372676;ENST00000217425	D;D	0.99239	-5.61;-5.61	4.48	4.48	0.54585	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.000000	0.64402	D	0.000005	D	0.99622	0.9862	H	0.98005	4.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97637	1.0146	10	0.87932	D	0	-26.1902	12.6543	0.56778	0.0:0.0:1.0:0.0	.	36	Q14508	WFDC2_HUMAN	Y	36	ENSP00000361761:C36Y;ENSP00000217425:C36Y	ENSP00000217425:C36Y	C	+	2	0	WFDC2	43532470	1.000000	0.71417	0.991000	0.47740	0.168000	0.22595	3.086000	0.50159	2.039000	0.60335	0.655000	0.94253	TGC	WFDC2	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core	ENSG00000101443		0.677	WFDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC2	HGNC	protein_coding	OTTHUMT00000079476.3		0	11	0	G			44099056	1			no_errors	ENST00000372676	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	A	A	44099056	G	A	44099056	3	1	6	1	0	0	0	0	1	0	0	0	17401	1319	46	3	113	3	WFDC2	20	44099056	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	4122779	44099056	18926464	366	1839											
ELMO2	63916	genome.wustl.edu	37	chr20	45003885	45003885	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacttacggtaaatcccAgcattttgtagtcctttgtg	9	15	9	8	1	0	0	0	0	0	0	2	0	2	0	2	2	3	4	2	2	5	7			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:45003885A>T	ENST00000290246.6	-	13	1249	c.1055T>A	c.(1054-1056)cTg>cAg	p.L352Q	ELMO2_ENST00000352077.2_Missense_Mutation_p.L350Q|ELMO2_ENST00000445496.2_Missense_Mutation_p.L169Q|ELMO2_ENST00000439931.2_Missense_Mutation_p.L364Q|ELMO2_ENST00000454865.2_Missense_Mutation_p.L84Q|ELMO2_ENST00000396391.1_Missense_Mutation_p.L352Q|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000372176.1_Missense_Mutation_p.L264Q	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	352	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGTAAATCCCAGCATTTTGTA	0.527																																																	0													187	121	143					20																	45003885		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1055T>A	20.37:g.45003885A>T	ENSP00000290246:p.Leu352Gln		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L364Q	ENST00000290246.6	37	c.1091	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554544	0.86231	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	4.99	4.99	0.66335	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.998;0.996	T	0.76945	-0.2771	10	0.87932	D	0	-15.5615	14.0317	0.64619	1.0:0.0:0.0:0.0	.	364;84;352;169;352	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	Q	352;264;352;364;169;84;350;140	ENSP00000290246:L352Q;ENSP00000361249:L264Q;ENSP00000379673:L352Q;ENSP00000396519:L364Q;ENSP00000409920:L169Q;ENSP00000415641:L84Q;ENSP00000326172:L350Q;ENSP00000388962:L140Q	ENSP00000290246:L352Q	L	-	2	0	ELMO2	44437292	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.139000	0.94554	2.096000	0.63516	0.454000	0.30748	CTG	ELMO2	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000062598		0.527	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1		0	43	0	A	NM_022086		45003885	-1			no_errors	ENST00000439931	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	45003885	A	T	45003885	3	4	6	1	0	0	0	0	1	0	0	0	5082	188	7	5	1147	5	ELMO2	20	45003885	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	904829	45003885	18021635	367	1840											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47570297	47570297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagcacagaaaatggagacGcacccagagaaagaggctca	18	3	11	9	1	1	4	1	0	0	4	1	6	1	4	1	2	1	3	1	2	4	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:47570297G>A	ENST00000371917.4	+	6	808	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	270					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAATGGAGACGCACCCAGAGA	0.483																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													79	77	78					20																	47570297		2203	4300	6503	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.808G>A	20.37:g.47570297G>A	ENSP00000360985:p.Ala270Thr		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.A270T	ENST00000371917.4	37	c.808	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	3.366	-0.129488	0.06753	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.22539	1.95	5.76	1.63	0.23807	Armadillo-type fold (1);	0.865213	0.10550	N	0.661607	T	0.10078	0.0247	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.39603	-0.9606	10	0.02654	T	1	.	5.9422	0.19199	0.226:0.1369:0.6371:0.0	.	270	Q9Y6D5	BIG2_HUMAN	T	270	ENSP00000360985:A270T	ENSP00000360985:A270T	A	+	1	0	ARFGEF2	47003704	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.288000	0.18939	0.149000	0.19098	-0.137000	0.14449	GCA	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.483	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	-	0	37	0	G	NM_006420		47570297	1	tier1	-	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	24.29	53	17	SNP	0.000	A	A	47570297	G	A	47570297	3	1	6	1	0	0	0	0	1	0	0	0	853	1087	38	1	830	1	ARFGEF2	20	47570297	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	2566412	47570297	15455223	368	1841											
CASS4	57091	genome.wustl.edu	37	chr20	55027698	55027698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactgatcacatagaagaatCtgtaagagaatttctggatt	15	12	8	6	0	3	4	1	1	2	3	3	6	3	5	0	1	0	1	0	1	5	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr20:55027698C>T	ENST00000360314.3	+	6	1691	c.1466C>T	c.(1465-1467)tCt>tTt	p.S489F	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.S489F	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	489					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATAGAAGAATCTGTAAGAGAA	0.493																																																	0													66	66	66					20																	55027698		2203	4300	6503	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1466C>T	20.37:g.55027698C>T	ENSP00000353462:p.Ser489Phe		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.S489F	ENST00000360314.3	37	c.1466	CCDS33492.1	20	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709452	0.89018	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.25250	1.81;1.81	5.87	5.87	0.94306	Serine rich protein interaction (1);Signal transduction histidine kinase, subgroup 1, dimerisation/phosphoacceptor domain (1);	0.051812	0.85682	D	0.000000	T	0.50701	0.1631	L	0.56769	1.78	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.985;0.99;0.994	T	0.32981	-0.9886	10	0.52906	T	0.07	-16.7834	20.5827	0.99408	0.0:1.0:0.0:0.0	.	435;489;489	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	F	489	ENSP00000353462:S489F;ENSP00000360387:S489F	ENSP00000353462:S489F	S	+	2	0	CASS4	54461105	0.907000	0.30839	0.012000	0.15200	0.989000	0.77384	5.284000	0.65627	2.941000	0.99782	0.655000	0.94253	TCT	CASS4	-	pfam_Serine_rich	ENSG00000087589		0.493	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	-	0	31	0	C	NM_020356		55027698	1	tier1	-	no_errors	ENST00000360314	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.863	T	T	55027698	C	T	55027698	3	4	6	1	0	0	0	0	1	0	0	0	2690	913	32	3	1484	3	CASS4	20	55027698	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	7457401	55027698	7997822	369	1842											
POTED	317754	genome.wustl.edu	37	chr21	14982728	14982728	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgaagatgctcaggagcaAgatgggcaagtgttgccgcc	11	8	14	8	1	1	3	1	1	0	2	1	4	1	4	2	2	3	4	2	2	4	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr21:14982728A>C	ENST00000299443.5	+	1	231	c.179A>C	c.(178-180)aAg>aCg	p.K60T		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	60						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CTCAGGAGCAAGATGGGCAAG	0.587																																																	0													1	2	2					21																	14982728		177	1131	1308	SO:0001583	missense	0			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	23822	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 1"	607549	"ankyrin repeat domain 21", "ANKRD26-like family B, member 3"	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.179A>C	21.37:g.14982728A>C	ENSP00000299443:p.Lys60Thr		C9JCF7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K60T	ENST00000299443.5	37	c.179	CCDS13562.1	21	.	.	.	.	.	.	.	.	.	.	A	7.088	0.571638	0.13623	.	.	ENSG00000166351	ENST00000299443	T	0.38722	1.12	.	.	.	.	.	.	.	.	T	0.40448	0.1117	L	0.61218	1.895	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.27673	-1.0067	7	0.40728	T	0.16	.	.	.	.	.	60	Q86YR6	POTED_HUMAN	T	60	ENSP00000299443:K60T	ENSP00000299443:K60T	K	+	2	0	POTED	13904599	0.116000	0.22171	0.034000	0.17996	0.035000	0.12851	-0.053000	0.11846	0.103000	0.17682	0.102000	0.15555	AAG	POTED	-	NULL	ENSG00000166351		0.587	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTED	HGNC	protein_coding	OTTHUMT00000157660.1	-	0	43	0	A	NM_174981		14982728	1	tier1	-	no_errors	ENST00000299443	ensembl	human	known	74_37	missense	46.88	17	15	SNP	0.036	C	C	14982728	A	C	14982728	3	2	6	1	0	0	0	0	1	0	0	0	12302	72	3	4	181	4	POTED	21	14982728	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09		14982728	33147167	370	1843											
CLDN17	26285	genome.wustl.edu	37	chr21	31538834	31538834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatgttgctgccaacaaaAgctgatactctccactgagg	13	10	8	10	0	1	2	0	2	1	0	2	2	1	2	2	1	5	3	2	1	5	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr21:31538834A>G	ENST00000286808.3	-	1	137	c.102T>C	c.(100-102)gcT>gcC	p.A34A		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	34					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGCCAACAAAAGCTGATACTC	0.502																																																	0													68	71	70					21																	31538834		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.102T>C	21.37:g.31538834A>G			Q3MJB5|Q6UY37	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.A34	ENST00000286808.3	37	c.102	CCDS13586.1	21																																																																																			CLDN17	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14	ENSG00000156282		0.502	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	-	0	21	0	A	NM_012131		31538834	-1	tier1	-	no_errors	ENST00000286808	ensembl	human	known	74_37	silent	28.00	36	14	SNP	0.966	G	G	31538834	A	G	31538834	2	3	6	1	0	0	0	0	0	0	0	1	3485	59	3	4		4	CLDN17	21	31538834	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	16556106	31538834	16591061	371	1844											
KRTAP26-1	388818	genome.wustl.edu	37	chr21	31691923	31691923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaagcagaattgggggCgataggcattgggcacacag	12	6	16	7	1	0	1	0	0	0	1	0	3	0	2	0	5	1	3	0	5	3	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr21:31691923C>T	ENST00000360542.3	-	1	684	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	144						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GAATTGGGGGCGATAGGCATT	0.552																																																	0													184	183	183					21																	31691923		2203	4300	6503	SO:0001583	missense	0			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.431G>A	21.37:g.31691923C>T	ENSP00000353742:p.Arg144His		B0RZD3	Missense_Mutation	SNP	pfam_KRTAP_PMG	p.R144H	ENST00000360542.3	37	c.431	CCDS13588.1	21	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888985	0.33348	.	.	ENSG00000197683	ENST00000360542	T	0.03745	3.82	3.77	2.88	0.33553	.	0.604741	0.14748	U	0.300785	T	0.03178	0.0093	L	0.43923	1.385	0.09310	N	1	P	0.42908	0.793	B	0.30716	0.119	T	0.43196	-0.9406	10	0.66056	D	0.02	-7.3395	7.6388	0.28282	0.0:0.874:0.0:0.126	.	144	Q6PEX3	KR261_HUMAN	H	144	ENSP00000353742:R144H	ENSP00000353742:R144H	R	-	2	0	KRTAP26-1	30613794	0.000000	0.05858	0.012000	0.15200	0.002000	0.02628	0.242000	0.18087	0.851000	0.35264	0.655000	0.94253	CGC	KRTAP26-1	-	pfam_KRTAP_PMG	ENSG00000197683		0.552	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP26-1	HGNC	protein_coding	OTTHUMT00000128218.1		0	43	0	C	NM_203405		31691923	-1			no_errors	ENST00000360542	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.037	T	T	31691923	C	T	31691923	3	4	6	1	0	0	0	0	1	0	0	0	8571	768	27	1	205	1	KRTAP26-1	21	31691923	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	153089	31691923	16437972	372	1845											
MX2	4600	genome.wustl.edu	37	chr21	42748941	42748941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaacagccaccgccattCggcacagtgccaccacaaat	13	4	7	17	2	0	0	0	0	0	0	1	0	0	0	5	1	4	2	5	1	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr21:42748941C>T	ENST00000330714.3	+	2	292	c.108C>T	c.(106-108)ttC>ttT	p.F36F	MX2_ENST00000543692.1_Silent_p.F36F	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	36					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.F36F(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CACCGCCATTCGGCACAGTGC	0.498																																																	1	Substitution - coding silent(1)	large_intestine(1)											79	84	82					21																	42748941		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.108C>T	21.37:g.42748941C>T			B7Z5D3|D3DSI7	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.F36	ENST00000330714.3	37	c.108	CCDS13672.1	21																																																																																			MX2	-	NULL	ENSG00000183486		0.498	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	-	0	31	0	C	NM_002463		42748941	1	tier1	-	no_errors	ENST00000330714	ensembl	human	known	74_37	silent	42.42	19	14	SNP	0.000	T	T	42748941	C	T	42748941	2	4	6	1	0	0	0	0	0	0	0	1	10036	883	31	1		1	MX2	21	42748941	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	11057018	42748941	5380954	373	1846											
C21orf58	54058	genome.wustl.edu	37	chr21	47734720	47734720	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggcagctctgggggcagGgctgacccgagggctcctct	4	6	19	12	1	2	1	0	1	2	0	3	2	3	1	2	6	1	5	2	6	0	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr21:47734720G>C	ENST00000291691.7	-	5	1655	c.519C>G	c.(517-519)gcC>gcG	p.A173A	C21orf58_ENST00000397682.3_Silent_p.A67A|C21orf58_ENST00000397680.1_Silent_p.A67A|C21orf58_ENST00000397679.1_Silent_p.A67A|C21orf58_ENST00000397683.1_Silent_p.A67A	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	173										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CTGGGGGCAGGGCTGACCCGA	0.692																																																	0													11	12	11					21																	47734720		2050	4083	6133	SO:0001819	synonymous_variant	0				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.519C>G	21.37:g.47734720G>C			B3KPI1	Silent	SNP	NULL	p.A173	ENST00000291691.7	37	c.519	CCDS13735.1	21																																																																																			C21orf58	-	NULL	ENSG00000160298		0.692	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	HGNC	protein_coding	OTTHUMT00000207283.1	-	0	78	0	G	NM_058180		47734720	-1	tier1	-	no_errors	ENST00000291691	ensembl	human	known	74_37	silent	34.43	40	21	SNP	0.000	C	C	47734720	G	C	47734720	2	2	6	1	0	0	0	0	0	0	0	1	2136	1219	43	5		5	C21orf58	21	47734720	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	4985779	47734720	395175	374	1847											
PCNT	5116	genome.wustl.edu	37	chr21	47819540	47819540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaagttgagagaaaagttgGatgaatttaatgaattggct	17	12	11	1	0	0	4	0	3	0	1	0	6	0	5	0	2	0	3	0	2	7	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr21:47819540G>A	ENST00000359568.5	+	25	4728	c.4621G>A	c.(4621-4623)Gat>Aat	p.D1541N	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1541					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAAAGTTGGATGAATTTAA	0.328																																																	0													82	91	88					21																	47819540		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4621G>A	21.37:g.47819540G>A	ENSP00000352572:p.Asp1541Asn		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.D1541N	ENST00000359568.5	37	c.4621	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868745	0.91587	.	.	ENSG00000160299	ENST00000359568	T	0.65549	-0.16	5.74	5.74	0.90152	.	0.000000	0.34959	N	0.003554	T	0.80391	0.4614	M	0.81341	2.54	0.33913	D	0.639978	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	D	0.85287	0.1065	10	0.49607	T	0.09	.	17.4165	0.87502	0.0:0.0:1.0:0.0	.	1423;1541	O95613-2;O95613	.;PCNT_HUMAN	N	1541	ENSP00000352572:D1541N	ENSP00000352572:D1541N	D	+	1	0	PCNT	46643968	1.000000	0.71417	0.987000	0.45799	0.880000	0.50808	4.858000	0.62947	2.707000	0.92482	0.651000	0.88453	GAT	PCNT	-	NULL	ENSG00000160299		0.328	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	54	0	G	NM_006031		47819540	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	40.74	32	22	SNP	0.995	A	A	47819540	G	A	47819540	3	1	6	1	0	0	0	0	1	0	0	0	11629	1174	41	3	4719	3	PCNT	21	47819540	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	84820	47819540	310355	375	1848											
CABIN1	23523	genome.wustl.edu	37	chr22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaagcatgccacgcccGtcttgaactgcttccgtcgg	6	11	11	13	4	1	1	0	1	1	0	3	2	2	2	3	2	4	2	3	2	2	3	rs148592192		TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr22:24483514G>A	ENST00000398319.2	+	23	3758	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_ENST00000405822.2_Missense_Mutation_p.V1075I|CABIN1_ENST00000263119.5_Missense_Mutation_p.V1125I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1125					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577																																																	0								G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96	79	85		3373,3223,3373	4.1	0.7	22	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense,missense	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1125/2221,1075/2171,1125/2221	24483514	1,13005	2203	4300	6503	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3373G>A	22.37:g.24483514G>A	ENSP00000381364:p.Val1125Ile		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1125I	ENST00000398319.2	37	c.3373	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938576	0.52972	2.27E-4	0.0	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75589	-0.95;-0.95;-0.95	5.1	4.09	0.47781	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.42245	1.32	0.80722	D	1	B;B	0.30793	0.295;0.036	B;B	0.17433	0.018;0.008	T	0.64437	-0.6408	10	0.48119	T	0.1	.	13.0002	0.58670	0.078:0.0:0.922:0.0	.	1075;1125	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1125;1075;1125	ENSP00000263119:V1125I;ENSP00000384694:V1075I;ENSP00000381364:V1125I	ENSP00000263119:V1125I	V	+	1	0	CABIN1	22813514	1.000000	0.71417	0.708000	0.30435	0.331000	0.28603	7.919000	0.87513	1.318000	0.45170	-0.142000	0.14014	GTC	CABIN1	-	NULL	ENSG00000099991		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0	17	0	G	NM_012295		24483514	1	tier1	rs148592192	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.996	A	A	24483514	G	A	24483514	3	1	6	1	0	0	0	0	1	0	0	0	2535	1145	40	1	3459	1	CABIN1	22	24483514	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09		24483514	26821052	376	1849											
PMM1	5372	genome.wustl.edu	37	chr22	41973338	41973338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcacgcctcatgagctGtctctgggaagaaaatctcc	9	9	10	13	2	4	2	2	1	2	1	6	3	4	3	3	2	1	1	3	2	3	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chr22:41973338G>T	ENST00000216259.7	-	8	857	c.773C>A	c.(772-774)aCa>aAa	p.T258K		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	258					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CTCATGAGCTGTCTCTGGGAA	0.572											OREG0026591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74	78	77					22																	41973338		2203	4300	6503	SO:0001583	missense	0				CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"brain glucose-1,6-bisphosphatase"	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.773C>A	22.37:g.41973338G>T	ENSP00000216259:p.Thr258Lys	905	A8K003|Q92586	Missense_Mutation	SNP	pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	p.T258K	ENST00000216259.7	37	c.773	CCDS14020.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.98|15.98	2.991653|2.991653	0.54041|0.54041	.|.	.|.	ENSG00000172346|ENSG00000100417	ENST00000460790|ENST00000216259	.|D	.|0.98437	.|-4.93	5.52|5.52	4.48|4.48	0.54585|0.54585	.|.	.|0.261902	.|0.41605	.|D	.|0.000854	D|D	0.92961|0.92961	0.7760|0.7760	N|N	0.08118|0.08118	0|0	0.26509|0.26509	N|N	0.974635|0.974635	.|B	.|0.11235	.|0.004	.|B	.|0.04013	.|0.001	T|T	0.79697|0.79697	-0.1695|-0.1695	6|10	0.87932|0.08599	D|T	0|0.76	-19.6971|-19.6971	14.6915|14.6915	0.69091|0.69091	0.0:0.2736:0.7264:0.0|0.0:0.2736:0.7264:0.0	.|.	.|258	.|Q92871	.|PMM1_HUMAN	F|K	105|258	.|ENSP00000216259:T258K	ENSP00000417127:C105F|ENSP00000216259:T258K	C|T	+|-	2|2	0|0	CSDC2|PMM1	40303284|40303284	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	2.552000|2.552000	0.45828|0.45828	2.592000|2.592000	0.87571|0.87571	0.557000|0.557000	0.71058|0.71058	TGT|ACA	PMM1	-	NULL	ENSG00000100417		0.572	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMM1	HGNC	protein_coding	OTTHUMT00000320711.3	-	0	46	0	G	NM_002676		41973338	-1	tier1	-	no_errors	ENST00000216259	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	T	T	41973338	G	T	41973338	3	4	6	1	0	0	0	0	1	0	0	0	12175	1377	48	3	19	3	PMM1	22	41973338	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	17489824	41973338	9331228	377	1850											
PLCXD1	55344	genome.wustl.edu	37	chrX	205431	205431	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatgacgtactgcctgaaCaagaagtcccccatttcgca	12	8	8	13	3	0	3	0	2	0	1	2	4	1	3	3	0	3	2	3	0	4	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:205431C>T	ENST00000381657.2	+	3	673	c.159C>T	c.(157-159)aaC>aaT	p.N53N	PLCXD1_ENST00000381663.3_Silent_p.N53N|PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Silent_p.N53N	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	53	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACTGCCTGAACAAGAAGTCCC	0.617																																																	0													346	271	296					X																	205431		2203	4296	6499	SO:0001819	synonymous_variant	0			AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"Pseudoautosomal regions / PAR1"	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.159C>T	X.37:g.205431C>T			A2BH51|A2BH52	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.N53	ENST00000381657.2	37	c.159	CCDS14103.1	X																																																																																			PLCXD1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000182378		0.617	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLCXD1	HGNC	protein_coding	OTTHUMT00000058879.2	-	0	53	0	C	NM_018390		205431	1	tier1	-	no_errors	ENST00000381657	ensembl	human	known	74_37	silent	35.62	47	26	SNP	0.998	T	T	205431	C	T	205431	2	4	6	1	0	0	0	0	0	0	0	1	12080	477	17	3		3	PLCXD1	23	205431	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09		205431	155065129	378	1851											
FAM47A	158724	genome.wustl.edu	37	chrX	34149661	34149662	+	Missense_Mutation	DNP	GG	GG	AC																															ggaggccccgggcggatatgGgacactccagtctctggagg																										TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:34149661_34149662GG>AC	ENST00000346193.3	-	1	785_786	c.734_735CC>GT	c.(733-735)tCC>tGT	p.S245C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	245	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCGGATATGGGACACTCCAGT	0.639																																																	1	Deletion - In frame(1)	ovary(1)																																								SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.734_735delinsAC	X.37:g.34149661_34149662delinsAC	ENSP00000345029:p.Ser245Cys		A8K8I9|Q8TAA0	Silent|Missense_Mutation	SNP	NULL	p.S245|p.S245C	ENST00000346193.3	37	c.735|c.734	CCDS43926.1	X																																																																																			FAM47A	-	NULL	ENSG00000185448		0.639	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0	101	0	G	NM_203408		34149661|34149662	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	silent|missense	5.17	110	6	SNP	0.001|0.002	A|C	AC	34149662	GG	AC	34149661	3	1	6	1	0	0	0	0	1	0	0	0	5591	1219	43	3	1644	3	FAM47A	23	34149661	Missense_Mutation	DNP	GG	TCGA-2H-A9GK-01A-11D-A37C-09	33944230	34149661	121120899	379	1852											
MAOA	4128	genome.wustl.edu	37	chrX	43571184	43571184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccattgcatatttggattaCaataatctgtggaggacaat	13	13	8	7	0	1	0	0	0	1	0	1	3	1	3	1	3	2	1	1	3	5	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:43571184C>T	ENST00000338702.3	+	4	495	c.372C>T	c.(370-372)taC>taT	p.Y124Y	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	124					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	ATTTGGATTACAATAATCTGT	0.383																																																	0													143	132	136					X																	43571184		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.372C>T	X.37:g.43571184C>T			B4DF46|Q16426	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.Y124	ENST00000338702.3	37	c.372	CCDS14260.1	X																																																																																			MAOA	-	pfam_Amino_oxidase	ENSG00000189221		0.383	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1	-	0	19	0	C	NM_000240		43571184	1	tier1	-	no_errors	ENST00000338702	ensembl	human	known	74_37	silent	46.88	17	15	SNP	1.000	T	T	43571184	C	T	43571184	2	4	6	1	0	0	0	0	0	0	0	1	9263	489	17	3		3	MAOA	23	43571184	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	9421523	43571184	111699376	380	1853											
HUWE1	10075	genome.wustl.edu	37	chrX	53565335	53565335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgaggacacgaatgtagtCtaccaggacagcaaaaggcc	14	5	12	10	2	1	0	0	0	1	0	2	4	1	2	2	3	2	2	2	3	5	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:53565335C>T	ENST00000342160.3	-	76	12416	c.11959G>A	c.(11959-11961)Gac>Aac	p.D3987N	HUWE1_ENST00000262854.6_Missense_Mutation_p.D3987N			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3987					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGAATGTAGTCTACCAGGACA	0.537																																																	0													177	108	131					X																	53565335		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11959G>A	X.37:g.53565335C>T	ENSP00000340648:p.Asp3987Asn		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.D3987N	ENST00000342160.3	37	c.11959	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.30|18.30	3.594280|3.594280	0.66219|0.66219	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.37411|.	1.2;1.2|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.055992|.	0.64402|.	D|.	0.000002|.	T|T	0.53433|0.53433	0.1796|0.1796	N|N	0.21373|0.21373	0.66|0.66	0.80722|0.80722	D|D	1|1	P;D;D|.	0.67145|.	0.539;0.993;0.996|.	B;D;D|.	0.77557|.	0.085;0.956;0.99|.	T|T	0.50092|0.50092	-0.8868|-0.8868	10|5	0.13853|.	T|.	0.58|.	.|.	16.7622|16.7622	0.85515|0.85515	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	809;3987;3971|.	Q5H935;Q7Z6Z7;Q7Z6Z7-2|.	.;HUWE1_HUMAN;.|.	N|K	3987|3020;809	ENSP00000340648:D3987N;ENSP00000262854:D3987N|.	ENSP00000262854:D3987N|.	D|R	-|-	1|2	0|0	HUWE1|HUWE1	53582060|53582060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.013000|7.013000	0.76373|0.76373	2.218000|2.218000	0.71995|0.71995	0.529000|0.529000	0.55759|0.55759	GAC|AGA	HUWE1	-	NULL	ENSG00000086758		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	27	0	C	XM_497119		53565335	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T	T	53565335	C	T	53565335	3	4	6	1	0	0	0	0	1	0	0	0	7488	913	32	3	1197	3	HUWE1	23	53565335	Missense_Mutation	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	9994151	53565335	101705225	381	1854											
AR	367	genome.wustl.edu	37	chrX	66863160	66863160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaccccagaagacctGcctgatctgtggagatgaag	10	9	10	12	0	1	5	0	2	1	3	2	6	2	5	5	1	1	0	5	1	2	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:66863160G>A	ENST00000374690.3	+	2	2203	c.1679G>A	c.(1678-1680)tGc>tAc	p.C560Y	AR_ENST00000396044.3_Missense_Mutation_p.C560Y|AR_ENST00000504326.1_Missense_Mutation_p.C560Y|AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Missense_Mutation_p.C28Y	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	559	Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CAGAAGACCTGCCTGATCTGT	0.478									Androgen Insensitivity Syndrome																																								0			GRCh37	CM920069	AR	M							147	121	130					X																	66863160		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1679G>A	X.37:g.66863160G>A	ENSP00000363822:p.Cys560Tyr		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.C560Y	ENST00000374690.3	37	c.1679	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362937	0.82353	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.99902	-7.66;-7.66;-7.66;-7.66	5.37	5.37	0.77165	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.98178	4.165	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.97110	0.998;0.998;1.0;0.999	D	0.95966	0.8966	10	0.87932	D	0	.	15.4234	0.75031	0.0:0.0:1.0:0.0	.	560;560;28;559	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Y	370;560;560;560;28	ENSP00000363822:C560Y;ENSP00000421155:C560Y;ENSP00000379359:C560Y;ENSP00000379358:C28Y	ENSP00000363822:C560Y	C	+	2	0	AR	66779885	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.642000	0.98461	2.234000	0.73211	0.523000	0.50628	TGC	AR	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000169083		0.478	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	-	0	47	0	G	NM_000044		66863160	1	tier1	-	no_errors	ENST00000374690	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	66863160	G	A	66863160	3	1	6	1	0	0	0	0	1	0	0	0	836	1319	46	3	1709	3	AR	23	66863160	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	13297825	66863160	88407400	382	1855											
STARD8	9754	genome.wustl.edu	37	chrX	67937516	67937516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtcgtggcttcctctcaGctggattttacagggccaag	6	13	12	10	1	1	0	1	0	1	0	4	1	2	1	2	3	2	3	2	3	2	4			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:67937516G>T	ENST00000252336.6	+	5	892	c.520G>T	c.(520-522)Gct>Tct	p.A174S	STARD8_ENST00000374599.3_Missense_Mutation_p.A254S|STARD8_ENST00000374597.3_Missense_Mutation_p.A174S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	174					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTTCCTCTCAGCTGGATTTTA	0.602																																																	0													51	45	47					X																	67937516		2202	4299	6501	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.520G>T	X.37:g.67937516G>T	ENSP00000252336:p.Ala174Ser		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.A254S	ENST00000252336.6	37	c.760	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	g	4.285	0.052166	0.08291	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.09073	3.02;3.03;3.02	3.93	3.06	0.35304	.	0.890661	0.09683	N	0.769441	T	0.05090	0.0136	N	0.16602	0.42	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.21917	0.037;0.016	T	0.42799	-0.9430	10	0.05833	T	0.94	.	8.5811	0.33630	0.1183:0.0:0.8816:0.0	.	254;174	Q92502-2;Q92502	.;STAR8_HUMAN	S	174;254;174	ENSP00000252336:A174S;ENSP00000363727:A254S;ENSP00000363725:A174S	ENSP00000252336:A174S	A	+	1	0	STARD8	67854241	0.003000	0.15002	0.488000	0.27440	0.212000	0.24457	1.157000	0.31724	0.698000	0.31739	0.597000	0.82753	GCT	STARD8	-	NULL	ENSG00000130052		0.602	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	-	0	22	0	G	NM_014725		67937516	1	tier1	-	no_errors	ENST00000374599	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.016	T	T	67937516	G	T	67937516	3	4	6	1	0	0	0	0	1	0	0	0	15310	971	34	3	782	3	STARD8	23	67937516	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	1074356	67937516	87333044	383	1856											
MAGEE2	139599	genome.wustl.edu	37	chrX	75004857	75004857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgatctctgcgctacaGtggcgtgcattctggcttac	6	12	12	11	2	2	1	0	1	2	0	3	1	2	1	0	2	4	4	0	2	2	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:75004857G>C	ENST00000373359.2	-	1	222	c.30C>G	c.(28-30)caC>caG	p.H10Q		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	10										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGCTACAGTGGCGTGCAT	0.577																																																	0													42	31	35					X																	75004857		2202	4293	6495	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.30C>G	X.37:g.75004857G>C	ENSP00000362457:p.His10Gln		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.H10Q	ENST00000373359.2	37	c.30	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	G	2.514	-0.312264	0.05422	.	.	ENSG00000186675	ENST00000373359	T	0.03330	3.97	2.86	-1.53	0.08611	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	9	0.24483	T	0.36	.	2.8142	0.05451	0.4676:0.0:0.3113:0.2211	.	10	Q8TD90	MAGE2_HUMAN	Q	10	ENSP00000362457:H10Q	ENSP00000362457:H10Q	H	-	3	2	MAGEE2	74921582	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.015000	0.13355	-0.534000	0.06315	-0.332000	0.08345	CAC	MAGEE2	-	NULL	ENSG00000186675		0.577	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0	16	0	G	NM_138703		75004857	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.000	C	C	75004857	G	C	75004857	3	2	6	1	0	0	0	0	1	0	0	0	9224	1020	36	5	1545	5	MAGEE2	23	75004857	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	7067341	75004857	80265703	384	1857											
CYLC1	1538	genome.wustl.edu	37	chrX	83129284	83129284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagtctactgatgctgAatttgatgaatcttccaaga	13	12	8	8	0	2	6	0	4	2	2	3	6	3	6	1	0	2	1	1	0	4	3			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:83129284A>C	ENST00000329312.4	+	4	1605	c.1568A>C	c.(1567-1569)gAa>gCa	p.E523A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	523					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACTGATGCTGAATTTGATGAA	0.363																																																	0													80	70	74					X																	83129284		2202	4298	6500	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1568A>C	X.37:g.83129284A>C	ENSP00000331556:p.Glu523Ala		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.E523A	ENST00000329312.4	37	c.1568	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	a	5.574	0.290658	0.10567	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.46063	0.88	3.01	1.8	0.24995	.	.	.	.	.	T	0.37625	0.1010	M	0.62723	1.935	0.09310	N	1	B;B	0.23316	0.034;0.083	B;B	0.30105	0.111;0.085	T	0.33777	-0.9855	9	0.25751	T	0.34	-3.1332	5.6813	0.17778	0.7234:0.2766:0.0:0.0	.	523;523	P35663;F5H4V5	CYLC1_HUMAN;.	A	523	ENSP00000331556:E523A	ENSP00000331556:E523A	E	+	2	0	CYLC1	83015940	0.016000	0.18221	0.006000	0.13384	0.021000	0.10359	0.672000	0.25187	0.396000	0.25283	0.486000	0.48141	GAA	CYLC1	-	NULL	ENSG00000183035		0.363	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	32	0	A	NM_021118		83129284	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.006	C	C	83129284	A	C	83129284	3	2	6	1	0	0	0	0	1	0	0	0	4150	246	9	4	1582	4	CYLC1	23	83129284	Missense_Mutation	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	8124427	83129284	72141276	385	1858											
TMSB15A	11013	genome.wustl.edu	37	chrX	101770005	101770005	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttactttcctttgagggAagagtatttttttcttcagt	8	19	8	6	0	2	2	1	1	1	1	3	4	3	3	1	1	1	1	1	1	3	8			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:101770005A>C	ENST00000289373.4	-	2	222	c.87T>G	c.(85-87)ctT>ctG	p.L29L		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	29					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						CCTTTGAGGGAAGAGTATTTT	0.363																																																	0													140	134	136					X																	101770005		2203	4300	6503	SO:0001819	synonymous_variant	0			D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"thymosin-like 8"	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.87T>G	X.37:g.101770005A>C			A8K614|Q99406	Silent	SNP	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa	p.L29	ENST00000289373.4	37	c.87	CCDS14498.1	X																																																																																			TMSB15A	-	pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa	ENSG00000158164		0.363	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMSB15A	HGNC	protein_coding	OTTHUMT00000057621.1	-	0	24	0	A	NM_021992		101770005	-1	tier1	-	no_errors	ENST00000289373	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.041	C	C	101770005	A	C	101770005	2	2	6	1	0	0	0	0	0	0	0	1	16302	233	9	4		4	TMSB15A	23	101770005	Silent	SNP	A	TCGA-2H-A9GK-01A-11D-A37C-09	18640721	101770005	53500555	386	1859											
TEX13A	56157	genome.wustl.edu	37	chrX	104464871	104464871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcactcccaaggccaggcTgccccaggtgcaggcctctt	6	6	12	17	1	1	0	0	0	1	0	2	0	2	0	5	4	2	3	5	4	1	1			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:104464871T>C	ENST00000413579.1	-	2	322	c.211A>G	c.(211-213)Agc>Ggc	p.S71G	TEX13A_ENST00000372575.1_Missense_Mutation_p.S71G|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.S71G			Q9BXU3	TX13A_HUMAN	testis expressed 13A	71							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AAGGCCAGGCTGCCCCAGGTG	0.602																																																	0													42	41	41					X																	104464871		2203	4300	6503	SO:0001583	missense	0			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.211A>G	X.37:g.104464871T>C	ENSP00000399753:p.Ser71Gly		B1B1G8|Q32NB6	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.S71G	ENST00000413579.1	37	c.211		X	.	.	.	.	.	.	.	.	.	.	T	1.865	-0.461780	0.04508	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	-4.38	0.03622	.	1.167150	0.06543	N	0.743565	T	0.26846	0.0657	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.004	T	0.26608	-1.0098	8	0.51188	T	0.08	.	4.9382	0.13952	0.1852:0.509:0.0:0.3058	.	71;71	C9JWK0;Q9BXU3	.;TX13A_HUMAN	G	71	.	ENSP00000361656:S71G	S	-	1	0	TEX13A	104351527	0.836000	0.29430	0.207000	0.23584	0.145000	0.21501	-0.318000	0.08050	-1.193000	0.02688	-0.448000	0.05591	AGC	TEX13A	-	NULL	ENSG00000133149		0.602	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding		-	0	17	0	T	NM_031274		104464871	-1	tier1	-	no_errors	ENST00000413579	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.147	C	C	104464871	T	C	104464871	3	2	6	1	0	0	0	0	1	0	0	0	15823	1580	55	4	1028	4	TEX13A	23	104464871	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	2694866	104464871	50805689	387	1860											
ALG13	79868	genome.wustl.edu	37	chrX	110951378	110951378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgctttccggatacctGcataagcaagcccttgttac	8	11	10	12	1	0	0	0	0	0	0	1	1	1	1	3	2	6	5	3	2	4	5			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:110951378G>A	ENST00000394780.3	+	4	519	c.507G>A	c.(505-507)ctG>ctA	p.L169L	ALG13_ENST00000251943.4_Silent_p.L65L|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	169	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCGGATACCTGCATAAGCAAG	0.527																																																	0													122	101	108					X																	110951378		1568	3582	5150	SO:0001819	synonymous_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.507G>A	X.37:g.110951378G>A			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.L65	ENST00000394780.3	37	c.195	CCDS55477.1	X																																																																																			ALG13	-	NULL	ENSG00000101901		0.527	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1		0	39	0	G	NM_018466		110951378	1			no_errors	ENST00000251943	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	A	A	110951378	G	A	110951378	2	1	6	1	0	0	0	0	0	0	0	1	515	1306	46	3		3	ALG13	23	110951378	Silent	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	6486507	110951378	44319182	388	1861											
PASD1	139135	genome.wustl.edu	37	chrX	150791459	150791459	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagccacctctgtgctgacTttgctgcatgtgttcctcag	5	13	9	14	0	2	1	1	1	1	0	3	1	3	1	4	0	4	4	4	0	0	2			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:150791459T>G	ENST00000370357.4	+	7	714	c.469T>G	c.(469-471)Ttt>Gtt	p.F157V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	157						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGCTGACTTTGCTGCATG	0.463																																																	0													265	209	228					X																	150791459		2203	4300	6503	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.469T>G	X.37:g.150791459T>G	ENSP00000359382:p.Phe157Val		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.F157V	ENST00000370357.4	37	c.469	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	t	7.150	0.583580	0.13749	.	.	ENSG00000166049	ENST00000370357	T	0.69040	-0.37	3.32	-6.64	0.01801	.	.	.	.	.	T	0.40932	0.1137	N	0.24115	0.695	0.09310	N	1	B	0.26258	0.145	B	0.21151	0.033	T	0.19516	-1.0303	9	0.51188	T	0.08	.	1.181	0.01845	0.3965:0.2975:0.1329:0.1731	.	157	Q8IV76	PASD1_HUMAN	V	157	ENSP00000359382:F157V	ENSP00000359382:F157V	F	+	1	0	PASD1	150542115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.531000	0.00943	-2.276000	0.00678	-1.804000	0.00617	TTT	PASD1	-	NULL	ENSG00000166049		0.463	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	-	0	27	0	T	NM_173493		150791459	1	tier1	-	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.000	G	G	150791459	T	G	150791459	3	3	6	1	0	0	0	0	1	0	0	0	11510	1609	56	4	491	4	PASD1	23	150791459	Missense_Mutation	SNP	T	TCGA-2H-A9GK-01A-11D-A37C-09	39840081	150791459	4479101	389	1862											
MAGEA10	4109	genome.wustl.edu	37	chrX	151303610	151303610	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttcttatgacactctcCagtatttctgcctttgtgat	8	19	5	9	0	3	2	0	2	3	0	4	2	3	2	2	0	1	1	2	0	3	6			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:151303610C>A	ENST00000370323.4	-	4	799	c.483G>T	c.(481-483)ctG>ctT	p.L161L	MAGEA10_ENST00000244096.3_Silent_p.L161L|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	161	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGACACTCTCCAGTATTTCTG	0.428																																																	0													100	96	97					X																	151303610		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.483G>T	X.37:g.151303610C>A				Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L161	ENST00000370323.4	37	c.483	CCDS14705.1	X																																																																																			MAGEA10	-	pfam_MAGE,pfscan_MAGE	ENSG00000124260		0.428	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGEA10	HGNC	protein_coding	OTTHUMT00000060916.3	-	0	30	0	C	NM_021048		151303610	-1	tier1	-	no_errors	ENST00000244096	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.010	A	A	151303610	C	A	151303610	2	1	6	1	0	0	0	0	0	0	0	1	9200	581	21	3		3	MAGEA10	23	151303610	Silent	SNP	C	TCGA-2H-A9GK-01A-11D-A37C-09	512151	151303610	3966950	390	1863											
ZNF185	7739	genome.wustl.edu	37	chrX	152097180	152097180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagggcaggactccgcctgGtggccccagacgtggaaggc	7	4	16	14	2	0	1	0	0	0	1	1	3	1	3	5	6	0	1	5	6	1	0			TCGA-2H-A9GK-01A-11D-A37C-09	TCGA-2H-A9GK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae7e4bef-a699-4444-849d-91415b60763f	4c66b924-401a-40bb-a134-07a35536cf3c	g.chrX:152097180G>T	ENST00000370268.4	+	12	926	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	ZNF185_ENST00000539731.1_Intron|ZNF185_ENST00000449285.2_Missense_Mutation_p.V298L|ZNF185_ENST00000535861.1_Missense_Mutation_p.V297L|ZNF185_ENST00000324823.6_Missense_Mutation_p.V133L|ZNF185_ENST00000370270.2_Missense_Mutation_p.V297L|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000318504.7_Intron			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	297						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCCGCCTGGTGGCCCCAGA	0.612																																																	0													44	51	49					X																	152097180		1991	4150	6141	SO:0001583	missense	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.889G>T	X.37:g.152097180G>T	ENSP00000359291:p.Val297Leu		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.V297L	ENST00000370268.4	37	c.889	CCDS48184.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.54|13.54	2.268170|2.268170	0.40095|0.40095	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000447088|ENST00000535861;ENST00000449285;ENST00000535156;ENST00000324823;ENST00000433245;ENST00000370268;ENST00000370270	.|T;T;T	.|0.50813	.|0.73;0.75;0.75	3.2|3.2	1.32|1.32	0.21799|0.21799	.|.	.|1.068350	.|0.07389	.|N	.|0.888776	T|T	0.38532|0.38532	0.1044|0.1044	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.40211	.|0.484;0.707;0.484	.|B;B;B	.|0.37198	.|0.178;0.243;0.178	T|T	0.26258|0.26258	-1.0108|-1.0108	5|10	.|0.25751	.|T	.|0.34	-0.311|-0.311	4.7205|4.7205	0.12915|0.12915	0.3229:0.0:0.6771:0.0|0.3229:0.0:0.6771:0.0	.|.	.|298;297;297	.|O15231-3;F5GXF7;O15231	.|.;.;ZN185_HUMAN	V|L	114|297;298;132;133;163;297;128	.|ENSP00000440847:V297L;ENSP00000395228:V298L;ENSP00000359291:V297L	.|ENSP00000325307:V133L	G|V	+|+	2|1	0|0	ZNF185|ZNF185	151847836|151847836	0.994000|0.994000	0.37717|0.37717	0.993000|0.993000	0.49108|0.49108	0.968000|0.968000	0.65278|0.65278	0.555000|0.555000	0.23422|0.23422	0.207000|0.207000	0.20607|0.20607	0.600000|0.600000	0.82982|0.82982	GGT|GTG	ZNF185	-	NULL	ENSG00000147394		0.612	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	-	0	53	0	G	NM_007150		152097180	1	tier1	-	no_errors	ENST00000370270	ensembl	human	known	74_37	missense	49.38	41	40	SNP	0.987	T	T	152097180	G	T	152097180	3	4	6	1	0	0	0	0	1	0	0	0	17800	1261	44	3	953	3	ZNF185	23	152097180	Missense_Mutation	SNP	G	TCGA-2H-A9GK-01A-11D-A37C-09	793570	152097180	3173380	391	1864											
MIB2	142678	genome.wustl.edu	37	chr1	1562725	1562725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagtggctgcctaccTgggccaggtggagttgatac	7	10	14	10	0	1	1	0	1	1	0	1	2	1	2	3	4	4	3	3	4	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:1562725T>C	ENST00000357210.4	+	12	1814	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	MIB2_ENST00000355826.5_Missense_Mutation_p.L576P|MIB2_ENST00000378710.3_Missense_Mutation_p.L497P|MIB2_ENST00000505820.2_Missense_Mutation_p.L590P|MIB2_ENST00000378708.1_Missense_Mutation_p.L439P|MIB2_ENST00000504599.1_Missense_Mutation_p.L489P|MIB2_ENST00000360522.4_Missense_Mutation_p.L498P|MIB2_ENST00000518681.1_Missense_Mutation_p.L525P|MIB2_ENST00000378712.1_Missense_Mutation_p.L410P|MIB2_ENST00000520777.1_Missense_Mutation_p.L586P	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	533					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTGCCTACCTGGGCCAGGTG	0.662																																																	0													46	58	54					1																	1562725		2087	4207	6294	SO:0001583	missense	0			AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	30577	protein-coding gene	gene with protein product		611141	"zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)"	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1598T>C	1.37:g.1562725T>C	ENSP00000349741:p.Leu533Pro		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	pfam_Mib_Herc2,pfam_Ankyrin_rpt,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.L590P	ENST00000357210.4	37	c.1769		1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822830	0.32237	.	.	ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708	D;D;D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	3.92	3.92	0.45320	Ankyrin repeat-containing domain (4);	0.150583	0.44483	D	0.000455	D	0.88644	0.6492	M	0.77486	2.375	0.58432	D	0.999998	D;D;D;D;D;D;D	0.76494	0.993;0.99;0.999;0.999;0.999;0.995;0.986	P;D;D;D;D;D;D	0.73380	0.81;0.95;0.959;0.968;0.98;0.917;0.917	D	0.87274	0.2288	10	0.39692	T	0.17	-0.4791	8.1602	0.31194	0.1931:0.0:0.0:0.8069	.	498;439;410;525;586;519;533	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9	.;.;.;.;.;.;MIB2_HUMAN	P	586;533;498;497;576;525;590;410;489;439	ENSP00000428660:L586P;ENSP00000349741:L533P;ENSP00000353713:L498P;ENSP00000367982:L497P;ENSP00000348081:L576P;ENSP00000428264:L525P;ENSP00000426103:L590P;ENSP00000367984:L410P;ENSP00000426128:L489P;ENSP00000367980:L439P	ENSP00000348081:L576P	L	+	2	0	MIB2	1552588	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	3.984000	0.56923	1.636000	0.50526	0.374000	0.22700	CTG	MIB2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000197530		0.662	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	MIB2	HGNC	protein_coding			0	63	0	T	NM_080875		1562725	1			no_errors	ENST00000505820	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	C	C	1562725	T	C	1562725	3	2	7	1	0	0	0	0	1	0	0	0	9605	1580	55	4	1815	4	MIB2	1	1562725	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09		1562725	247687896	1	1865											
KIAA1751	85452	genome.wustl.edu	37	chr1	1922389	1922389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggagcaggctgccgtcatCctccatgctgggagatagaa	10	7	14	10	1	1	2	1	0	0	2	3	4	3	3	3	3	3	3	3	3	2	1	rs535519650		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:1922389C>G	ENST00000434971.2	-	2	39	c.7G>C	c.(7-9)Gat>Cat	p.D3H				Q69YW0	CA222_HUMAN		0										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCCGTCATCCTCCATGCTG	0.403																																																	0													52	52	52					1																	1922389		1902	4120	6022	SO:0001583	missense	0																														ENST00000434971.2:c.7G>C	1.37:g.1922389C>G	ENSP00000408078:p.Asp3His			Missense_Mutation	SNP	NULL	p.D3H	ENST00000434971.2	37	c.7		1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914074	0.33815	.	.	ENSG00000142609	ENST00000270720;ENST00000434971	T	0.51817	0.69	2.88	0.966	0.19667	.	.	.	.	.	T	0.33731	0.0873	N	0.14661	0.345	0.18873	N	0.999982	D;P	0.55605	0.972;0.919	P;B	0.49047	0.599;0.366	T	0.14896	-1.0456	9	0.66056	D	0.02	-7.6145	4.9678	0.14100	0.0:0.7045:0.0:0.2955	.	3;3	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	H	3	ENSP00000408078:D3H	ENSP00000270720:D3H	D	-	1	0	C1orf222	1912249	0.127000	0.22367	0.461000	0.27105	0.001000	0.01503	0.327000	0.19663	0.269000	0.21961	-0.237000	0.12165	GAT	C1orf222	-	NULL	ENSG00000142609		0.403	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		-	0	62	0	C			1922389	-1	tier1	-	no_errors	ENST00000434971	ensembl	human	known	74_37	missense	9.41	77	8	SNP	0.521	G	G	1922389	C	G	1922389	3	3	7	1	0	0	0	0	1	0	0	0	8283	855	30	5	2349	5	KIAA1751	1	1922389	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	359664	1922389	247328232	2	1866											
VPS13D	55187	genome.wustl.edu	37	chr1	12322114	12322114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaaatgaatgaaagtgCtttcatgcagctcgagtttt	11	14	8	8	1	2	2	2	2	0	0	4	3	3	2	1	0	3	4	1	0	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:12322114C>T	ENST00000358136.3	+	13	1701	c.1571C>T	c.(1570-1572)gCt>gTt	p.A524V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A524V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATGAAAGTGCTTTCATGCAG	0.468																																																	0													85	70	75					1																	12322114		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.1571C>T	1.37:g.12322114C>T	ENSP00000350854:p.Ala524Val			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A524V	ENST00000358136.3	37	c.1571	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196248	0.78902	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.47528	0.84;0.84	5.67	5.67	0.87782	.	0.247400	0.38959	N	0.001515	T	0.40645	0.1125	L	0.36672	1.1	0.80722	D	1	P;P	0.45827	0.867;0.791	B;B	0.39027	0.288;0.15	T	0.19647	-1.0299	10	0.31617	T	0.26	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	524;524	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	524	ENSP00000348666:A524V;ENSP00000350854:A524V	ENSP00000348666:A524V	A	+	2	0	VPS13D	12244701	1.000000	0.71417	0.633000	0.29310	0.983000	0.72400	5.737000	0.68606	2.680000	0.91292	0.655000	0.94253	GCT	VPS13D	-	NULL	ENSG00000048707		0.468	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2		0	60	0	C	NM_015378		12322114	1			no_errors	ENST00000358136	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.998	T	T	12322114	C	T	12322114	3	4	7	1	0	0	0	0	1	0	0	0	17241	797	28	3	1617	3	VPS13D	1	12322114	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	10399725	12322114	236928507	3	1867											
PDPN	10630	genome.wustl.edu	37	chr1	13933737	13933737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcgttgccatgccaggtgCcgaagatgatgtggtgactc	7	9	15	10	3	0	3	0	2	0	1	1	4	0	3	3	3	3	1	3	3	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:13933737C>T	ENST00000509009.1	+	2	166	c.122C>T	c.(121-123)gCc>gTc	p.A41V	PDPN_ENST00000376057.4_Missense_Mutation_p.A122V|PDPN_ENST00000294489.6_Missense_Mutation_p.A122V|PDPN_ENST00000475043.1_Missense_Mutation_p.A4V|PDPN_ENST00000376061.4_Missense_Mutation_p.A4V|PDPN_ENST00000487038.1_Missense_Mutation_p.A4V|PDPN_ENST00000513143.1_Missense_Mutation_p.A4V					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ATGCCAGGTGCCGAAGATGAT	0.517																																																	0													98	91	94					1																	13933737		2203	4300	6503	SO:0001583	missense	0			AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"lung type I cell membrane associated glycoprotein"	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.122C>T	1.37:g.13933737C>T	ENSP00000422977:p.Ala41Val			Missense_Mutation	SNP	pfam_Podoplanin	p.A122V	ENST00000509009.1	37	c.365		1	.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365881	0.05069	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009;ENST00000376061;ENST00000513143;ENST00000487038;ENST00000475043	T;T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79;1.79	4.71	-7.97	0.01139	.	2.915610	0.01097	N	0.005291	T	0.13457	0.0326	L	0.28274	0.84	0.09310	N	1	B;B;B;B	0.14012	0.004;0.004;0.009;0.009	B;B;B;B	0.11329	0.004;0.006;0.006;0.006	T	0.37709	-0.9694	10	0.02654	T	1	-33.7306	8.7647	0.34696	0.2433:0.592:0.0:0.1647	.	46;4;122;122	Q86YL7;E9PB68;Q86YL7-3;Q86YL7-4	PDPN_HUMAN;.;.;.	V	122;122;113;41;4;4;4;4	ENSP00000294489:A122V;ENSP00000365225:A122V;ENSP00000426302:A113V;ENSP00000422977:A41V;ENSP00000365229:A4V;ENSP00000425304:A4V;ENSP00000427537:A4V;ENSP00000426063:A4V	ENSP00000294489:A122V	A	+	2	0	PDPN	13806324	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-1.937000	0.01547	-1.510000	0.01796	-0.345000	0.07892	GCC	PDPN	-	pfam_Podoplanin	ENSG00000162493		0.517	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	PDPN	HGNC	protein_coding	OTTHUMT00000367736.1		0	56	0	C	NM_006474		13933737	1			no_errors	ENST00000294489	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	T	T	13933737	C	T	13933737	3	4	7	1	0	0	0	0	1	0	0	0	11727	739	26	3	371	3	PDPN	1	13933737	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1611623	13933737	235316884	4	1868											
CLCNKB	1188	genome.wustl.edu	37	chr1	16382972	16382972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctttgtgacgtcgcgggGcagagctgtgggctgcgtgt	3	11	17	10	4	1	2	0	1	1	1	2	2	1	2	1	3	2	3	1	3	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:16382972G>A	ENST00000375679.4	+	19	2096	c.1985G>A	c.(1984-1986)gGc>gAc	p.G662D	CLCNKB_ENST00000375667.3_Missense_Mutation_p.G492D|FAM131C_ENST00000494078.1_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	662	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGCGGGGCAGAGCTGTG	0.597											OREG0013133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													186	167	174					1																	16382972		2203	4300	6503	SO:0001583	missense	0			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1985G>A	1.37:g.16382972G>A	ENSP00000364831:p.Gly662Asp	709	B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.G662D	ENST00000375679.4	37	c.1985	CCDS168.1	1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.306622	0.60305	.	.	ENSG00000184908	ENST00000375679;ENST00000375667	D;D	0.91577	-2.87;-2.87	4.85	4.85	0.62838	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.96087	0.8725	M	0.91768	3.24	0.51767	D	0.999935	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96927	0.9678	10	0.87932	D	0	.	14.6631	0.68888	0.0:0.0:1.0:0.0	.	492;662	Q5T5Q7;P51801	.;CLCKB_HUMAN	D	662;492	ENSP00000364831:G662D;ENSP00000364819:G492D	ENSP00000364819:G492D	G	+	2	0	CLCNKB	16255559	1.000000	0.71417	0.999000	0.59377	0.224000	0.24922	5.555000	0.67301	2.260000	0.74910	0.555000	0.69702	GGC	CLCNKB	-	pfam_CBS_dom,smart_CBS_dom	ENSG00000184908		0.597	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1	-	0	109	0	G	NM_000085		16382972	1	tier1	-	no_errors	ENST00000375679	ensembl	human	known	74_37	missense	20.63	100	26	SNP	0.998	A	A	16382972	G	A	16382972	3	1	7	1	0	0	0	0	1	0	0	0	3477	1203	42	3	2203	3	CLCNKB	1	16382972	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	2449235	16382972	232867649	5	1869											
BAI2	576	genome.wustl.edu	37	chr1	32207476	32207476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagccctgcgtgcccgtggCctggcacatgcggaagcggc	5	6	16	14	4	0	0	0	0	0	0	0	1	0	1	3	4	5	2	3	4	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:32207476C>G	ENST00000373658.3	-	9	1851	c.1510G>C	c.(1510-1512)Gcc>Ccc	p.A504P	BAI2_ENST00000398547.1_Missense_Mutation_p.A437P|BAI2_ENST00000373655.2_Missense_Mutation_p.A504P|BAI2_ENST00000527361.1_Missense_Mutation_p.A504P|BAI2_ENST00000398542.1_Missense_Mutation_p.A437P|BAI2_ENST00000398556.3_Missense_Mutation_p.A452P|BAI2_ENST00000440175.2_Missense_Mutation_p.A146P|BAI2_ENST00000398538.1_Missense_Mutation_p.A492P|BAI2_ENST00000257070.4_Missense_Mutation_p.A504P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	504	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTGCCCGTGGCCTGGCACATG	0.637																																																	0													64	68	67					1																	32207476		2203	4299	6502	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1510G>C	1.37:g.32207476C>G	ENSP00000362762:p.Ala504Pro		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A504P	ENST00000373658.3	37	c.1510	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476703	0.84640	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	4.95	4.95	0.65309	.	0.000000	0.38778	N	0.001571	T	0.56217	0.1970	N	0.17248	0.465	0.46437	D	0.999047	D;P;D;P;D;D;D	0.63880	0.993;0.934;0.98;0.842;0.984;0.991;0.984	P;P;P;P;P;P;P	0.62560	0.904;0.609;0.844;0.718;0.904;0.844;0.904	T	0.63047	-0.6724	10	0.66056	D	0.02	.	17.3262	0.87248	0.0:1.0:0.0:0.0	.	437;504;492;146;437;504;504	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	P	452;437;504;504;437;504;504;146;492;442;483	ENSP00000381564:A452P;ENSP00000381555:A437P;ENSP00000362762:A504P;ENSP00000362759:A504P;ENSP00000381550:A437P;ENSP00000257070:A504P;ENSP00000435397:A504P;ENSP00000391071:A146P;ENSP00000381548:A492P;ENSP00000410921:A442P;ENSP00000437219:A483P	ENSP00000257070:A504P	A	-	1	0	BAI2	31980063	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.457000	0.83068	0.561000	0.74099	GCC	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000121753		0.637	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	20	0	C	NM_001703		32207476	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	G	G	32207476	C	G	32207476	3	3	7	1	0	0	0	0	1	0	0	0	1300	739	26	5	3347	5	BAI2	1	32207476	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	15824504	32207476	217043145	6	1870											
C1orf94	84970	genome.wustl.edu	37	chr1	34666611	34666611	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacttcgaaacaaagtggaAgtggatgggccggagctgaa	14	6	15	6	2	0	2	0	1	0	1	1	6	0	5	1	4	2	1	1	4	4	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:34666611A>C	ENST00000488417.1	+	3	1368	c.1248A>C	c.(1246-1248)gaA>gaC	p.E416D	C1orf94_ENST00000373374.3_Missense_Mutation_p.E226D	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	416										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACAAAGTGGAAGTGGATGGGC	0.572																																																	0													34	33	33					1																	34666611		2201	4299	6500	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1248A>C	1.37:g.34666611A>C	ENSP00000435634:p.Glu416Asp		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.E416D	ENST00000488417.1	37	c.1248	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	A	8.452	0.853332	0.17106	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.27104	1.69;1.69	5.73	-6.22	0.02058	.	0.451445	0.19549	N	0.111614	T	0.09642	0.0237	L	0.28400	0.85	0.18873	N	0.999983	B	0.11235	0.004	B	0.08055	0.003	T	0.28808	-1.0032	10	0.13470	T	0.59	-11.0279	1.2798	0.02038	0.1727:0.3184:0.1636:0.3453	.	416	Q6P1W5	CA094_HUMAN	D	226;416	ENSP00000362472:E226D;ENSP00000435634:E416D	ENSP00000362472:E226D	E	+	3	2	C1orf94	34439198	0.821000	0.29204	0.955000	0.39395	0.056000	0.15407	-0.556000	0.05992	-0.319000	0.08652	0.533000	0.62120	GAA	C1orf94	-	NULL	ENSG00000142698		0.572	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0	56	0	A	NM_032884		34666611	1	tier1	-	no_errors	ENST00000488417	ensembl	human	known	74_37	missense	70.83	14	34	SNP	0.393	C	C	34666611	A	C	34666611	3	2	7	1	0	0	0	0	1	0	0	0	2078	69	3	4	1258	4	C1orf94	1	34666611	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	2459135	34666611	214584010	7	1871											
MANEAL	149175	genome.wustl.edu	37	chr1	38265722	38265722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attacctccttcaatgagtgGcacgagggcacccagattga	11	9	10	11	1	1	3	1	2	0	1	2	4	2	3	3	2	1	2	3	2	2	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:38265722G>C	ENST00000373045.6	+	4	1602	c.1221G>C	c.(1219-1221)tgG>tgC	p.W407C	MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000525897.1_Missense_Mutation_p.W213C|MANEAL_ENST00000329006.5_Missense_Mutation_p.W185C|RP11-109P14.9_ENST00000433474.1_RNA	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	407						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.W185C(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCAATGAGTGGCACGAGGGCA	0.577																																																	1	Substitution - Missense(1)	liver(1)											75	80	78					1																	38265722		2203	4300	6503	SO:0001583	missense	0			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1221G>C	1.37:g.38265722G>C	ENSP00000362136:p.Trp407Cys		Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	NULL	p.W407C	ENST00000373045.6	37	c.1221	CCDS44110.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101617	0.76983	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86318	0.5904	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89363	0.3669	9	0.87932	D	0	-10.4826	17.918	0.88958	0.0:0.0:1.0:0.0	.	185;407	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	C	407;213;185	.	ENSP00000328770:W185C	W	+	3	0	MANEAL	38038309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	2.662000	0.90505	0.655000	0.94253	TGG	MANEAL	-	NULL	ENSG00000185090		0.577	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEAL	HGNC	protein_coding	OTTHUMT00000012469.2	-	0	44	0	G	NM_152496		38265722	1	tier1	-	no_errors	ENST00000373045	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	C	C	38265722	G	C	38265722	3	2	7	1	0	0	0	0	1	0	0	0	9260	1212	42	5	1235	5	MANEAL	1	38265722	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	3599111	38265722	210984899	8	1872											
KIF2C	11004	genome.wustl.edu	37	chr1	45221617	45221617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagatcgaagagcacagaaTatgtgtctgtgttaggaaac	14	9	12	6	1	1	3	0	0	1	3	2	5	1	4	0	1	2	3	0	1	5	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:45221617T>C	ENST00000372224.4	+	9	889	c.776T>C	c.(775-777)aTa>aCa	p.I259T	KIF2C_ENST00000372217.1_Missense_Mutation_p.I205T|KIF2C_ENST00000372222.3_Missense_Mutation_p.I146T|KIF2C_ENST00000493027.1_Intron|KIF2C_ENST00000372218.4_Missense_Mutation_p.I218T	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	259	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					GAGCACAGAATATGTGTCTGT	0.498																																																	0													91	85	87					1																	45221617		2203	4300	6503	SO:0001583	missense	0			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"Kinesins"	6393	protein-coding gene	gene with protein product		604538	"kinesin-like 6 (mitotic centromere-associated kinesin)"	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.776T>C	1.37:g.45221617T>C	ENSP00000361298:p.Ile259Thr		B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I259T	ENST00000372224.4	37	c.776	CCDS512.1	1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839955	0.91117	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372222;ENST00000372217	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.94	5.94	0.96194	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	H	0.95982	3.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.75116	-0.3431	10	0.87932	D	0	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	218;205;259	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	T	218;259;218;250;146;205	ENSP00000410346:I218T;ENSP00000361298:I259T;ENSP00000361292:I218T;ENSP00000395050:I250T;ENSP00000361296:I146T;ENSP00000361291:I205T	ENSP00000361291:I205T	I	+	2	0	KIF2C	44994204	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.040000	0.89188	2.279000	0.76181	0.459000	0.35465	ATA	KIF2C	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000142945		0.498	KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2C	HGNC	protein_coding	OTTHUMT00000023180.1		0	32	0	T	NM_006845		45221617	1			no_errors	ENST00000372224	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	C	C	45221617	T	C	45221617	3	2	7	1	0	0	0	0	1	0	0	0	8326	1406	49	4	810	4	KIF2C	1	45221617	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	6955895	45221617	204029004	9	1873											
L1TD1	54596	genome.wustl.edu	37	chr1	62675655	62675657	+	In_Frame_Del	DEL	GGA	GGA	-																															gatgaagatacctcagggctGgaggaggaggaggaagagcc																								rs532563709|rs199552452		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:62675655_62675657delGGA	ENST00000498273.1	+	4	1504_1506	c.1209_1211delGGA	c.(1207-1212)ctggag>ctg	p.E409del	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	409	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CCTCAGGGCTggaggaggaggag	0.537																																																	0																																										SO:0001651	inframe_deletion	0			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1209_1211delGGA	1.37:g.62675664_62675666delGGA	ENSP00000419901:p.Glu409del		Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Del	DEL	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.E407in_frame_del	ENST00000498273.1	37	c.1209_1211	CCDS619.1	1																																																																																			L1TD1	-	NULL	ENSG00000240563		0.537	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1		0	31	0	GGA	NM_019079		62675657	1	tier1		no_errors	ENST00000498273	ensembl	human	known	74_37	in_frame_del	11.54	23	3	DEL	0.002:0.001:0.000	-	-	62675657	GGA	-	62675655	7	5	7	1	0	1	0	1	0	0	0	0	8617	1335	47	0	1215	0	L1TD1	1	62675655	In_Frame_Del	DEL	GGA	TCGA-2H-A9GL-01A-12D-A37C-09	17454038	62675655	186574966	10	1874											
JAK1	3716	genome.wustl.edu	37	chr1	65332731	65332731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttccaaggtagccaagtAtttcaccttcaggtcatgcg	10	12	9	10	1	3	0	3	0	0	0	4	0	4	0	3	2	2	3	3	2	4	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:65332731A>G	ENST00000342505.4	-	7	1056	c.808T>C	c.(808-810)Tac>Cac	p.Y270H		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	270	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	GTAGCCAAGTATTTCACCTTC	0.378			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													210	194	199					1																	65332731		1903	4130	6033	SO:0001583	missense	0			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.808T>C	1.37:g.65332731A>G	ENSP00000343204:p.Tyr270His		Q59GQ2|Q9UD26	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom	p.Y270H	ENST00000342505.4	37	c.808	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706454	0.89018	.	.	ENSG00000162434	ENST00000342505	T	0.60424	0.19	5.55	5.55	0.83447	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	.	.	.	.	T	0.74726	0.3754	M	0.85859	2.78	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	T	0.79992	-0.1569	9	0.87932	D	0	-6.2105	16.0621	0.80843	1.0:0.0:0.0:0.0	.	270	P23458	JAK1_HUMAN	H	270	ENSP00000343204:Y270H	ENSP00000343204:Y270H	Y	-	1	0	JAK1	65105319	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	8.932000	0.92897	2.252000	0.74401	0.529000	0.55759	TAC	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000162434		0.378	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	-	0	59	0	A	NM_002227		65332731	-1	tier1	-	no_errors	ENST00000342505	ensembl	human	known	74_37	missense	63.16	21	36	SNP	1.000	G	G	65332731	A	G	65332731	3	3	7	1	0	0	0	0	1	0	0	0	7964	449	16	4	2732	4	JAK1	1	65332731	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	2657076	65332731	183917890	11	1875											
IL12RB2	3595	genome.wustl.edu	37	chr1	67816572	67816572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgagtgtctcagaggCaagaggaaaaattctccact	14	9	10	8	0	3	3	1	1	3	2	5	5	3	4	1	2	0	1	1	2	4	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:67816572C>G	ENST00000262345.1	+	9	1698	c.1058C>G	c.(1057-1059)gCa>gGa	p.A353G	IL12RB2_ENST00000371000.1_Missense_Mutation_p.A353G|IL12RB2_ENST00000544434.1_Missense_Mutation_p.A353G|IL12RB2_ENST00000541374.1_Missense_Mutation_p.A353G	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	353	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GTCTCAGAGGCAAGAGGAAAA	0.483																																																	0													92	83	86					1																	67816572		2203	4300	6503	SO:0001583	missense	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1058C>G	1.37:g.67816572C>G	ENSP00000262345:p.Ala353Gly		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A353G	ENST00000262345.1	37	c.1058	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085820	0.76642	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.53640	0.61;0.61;0.61;1.06	5.36	5.36	0.76844	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.099708	0.64402	D	0.000002	T	0.65544	0.2701	M	0.85859	2.78	0.58432	D	0.99999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.96;0.997;0.994;0.998	T	0.66416	-0.5929	10	0.41790	T	0.15	-21.6212	14.9705	0.71229	0.0:1.0:0.0:0.0	.	353;353;353;353	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	G	353	ENSP00000262345:A353G;ENSP00000360039:A353G;ENSP00000445276:A353G;ENSP00000442443:A353G	ENSP00000262345:A353G	A	+	2	0	IL12RB2	67589160	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.256000	0.51492	2.685000	0.91497	0.655000	0.94253	GCA	IL12RB2	-	superfamily_Fibronectin_type3	ENSG00000081985		0.483	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2		0	24	0	C	NM_001559		67816572	1			no_errors	ENST00000262345	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	G	G	67816572	C	G	67816572	3	3	7	1	0	0	0	0	1	0	0	0	7654	710	25	5	1088	5	IL12RB2	1	67816572	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	2483841	67816572	181434049	12	1876											
C1orf173	127254	genome.wustl.edu	37	chr1	75037276	75037276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaaaggaggaggctttaTttgctattgttttctcctcg	8	16	10	7	1	1	1	0	1	1	0	3	3	1	3	1	3	1	3	1	3	4	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:75037276T>C	ENST00000326665.5	-	14	4336	c.4118A>G	c.(4117-4119)aAt>aGt	p.N1373S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1373	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGCTTTATTTGCTATTGT	0.517																																																	0													127	129	129					1																	75037276		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.4118A>G	1.37:g.75037276T>C	ENSP00000322609:p.Asn1373Ser		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.N1373S	ENST00000326665.5	37	c.4118	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.571725	0.28003	.	.	ENSG00000178965	ENST00000326665	T	0.25912	1.77	4.63	4.63	0.57726	.	.	.	.	.	T	0.08133	0.0203	N	0.24115	0.695	0.36996	D	0.895019	P	0.40731	0.728	B	0.41036	0.346	T	0.09207	-1.0685	9	0.11182	T	0.66	-7.1383	13.0102	0.58727	0.0:0.0:0.0:1.0	.	1373	Q5RHP9	CA173_HUMAN	S	1373	ENSP00000322609:N1373S	ENSP00000322609:N1373S	N	-	2	0	C1orf173	74809864	0.161000	0.22892	0.021000	0.16686	0.661000	0.39034	1.165000	0.31822	1.727000	0.51537	0.459000	0.35465	AAT	C1orf173	-	NULL	ENSG00000178965		0.517	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	34	0	T			75037276	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.102	C	C	75037276	T	C	75037276	3	2	7	1	0	0	0	0	1	0	0	0	2021	1493	52	4	478	4	C1orf173	1	75037276	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	7220704	75037276	174213345	13	1877											
C1orf173	127254	genome.wustl.edu	37	chr1	75038064	75038064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgtctcttcctcagcTcttacttctgtctctgtttc	2	21	5	13	0	5	0	1	0	4	0	9	0	6	0	1	0	2	3	1	0	1	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:75038064T>A	ENST00000326665.5	-	14	3548	c.3330A>T	c.(3328-3330)agA>agT	p.R1110S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1110	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTCCTCAGCTCTTACTTCTG	0.463																																																	0													104	111	109					1																	75038064		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.3330A>T	1.37:g.75038064T>A	ENSP00000322609:p.Arg1110Ser		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.R1110S	ENST00000326665.5	37	c.3330	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570505	0.28003	.	.	ENSG00000178965	ENST00000326665	T	0.17370	2.28	4.73	-7.23	0.01480	.	.	.	.	.	T	0.02012	0.0063	L	0.40543	1.245	0.09310	N	1	B	0.21606	0.058	B	0.16289	0.015	T	0.42699	-0.9436	9	0.08837	T	0.75	0.0566	0.6807	0.00874	0.3202:0.2164:0.1041:0.3593	.	1110	Q5RHP9	CA173_HUMAN	S	1110	ENSP00000322609:R1110S	ENSP00000322609:R1110S	R	-	3	2	C1orf173	74810652	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.785000	0.04628	-0.800000	0.04433	-0.379000	0.06801	AGA	C1orf173	-	NULL	ENSG00000178965		0.463	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	59	0	T			75038064	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	57.14	21	28	SNP	0.000	A	A	75038064	T	A	75038064	3	1	7	1	0	0	0	0	1	0	0	0	2021	1548	54	5	1266	5	C1orf173	1	75038064	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	788	75038064	174212557	14	1878											
ELTD1	64123	genome.wustl.edu	37	chr1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggtatcaggtgagtaattCcaaaatgcacatagactcct	14	11	8	8	0	1	2	1	1	0	1	3	2	3	2	2	2	1	3	2	2	5	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398																																																	0													119	112	114					1																	79387436		1946	4138	6084	SO:0001587	stop_gained	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1119G>A	1.37:g.79387436C>T	ENSP00000359778:p.Trp373*		B1AR71|Q5KU34	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.W373*	ENST00000370742.3	37	c.1119	CCDS41352.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540107	0.85917	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	X	373	.	.	W	-	3	0	ELTD1	79160024	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	7.583000	0.82559	2.724000	0.93272	0.585000	0.79938	TGG	ELTD1	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000162618		0.398	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	-	0	48	0	C	NM_022159		79387436	-1	tier1	-	no_errors	ENST00000370742	ensembl	human	known	74_37	nonsense	56.41	17	22	SNP	1.000	T	T	79387436	C	T	79387436	4	4	7	1	0	0	0	0	0	1	0	0	5100	856	30	3	981	3	ELTD1	1	79387436	Nonsense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	4349372	79387436	169863185	15	1879											
ELTD1	64123	genome.wustl.edu	37	chr1	79404882	79404882	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctacttacttttgttaaAgttttattaatatttgcagc	10	21	5	5	0	1	0	0	0	1	0	1	0	1	0	0	0	4	4	0	0	7	11			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:79404882A>C	ENST00000370742.3	-	4	450	c.387T>G	c.(385-387)acT>acG	p.T129T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	129					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTTTTGTTAAAGTTTTATTAA	0.244																																																	0													37	37	37					1																	79404882		1779	4029	5808	SO:0001819	synonymous_variant	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.387T>G	1.37:g.79404882A>C			B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T129	ENST00000370742.3	37	c.387	CCDS41352.1	1																																																																																			ELTD1	-	NULL	ENSG00000162618		0.244	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	-	0	56	0	A	NM_022159		79404882	-1	tier1	-	no_errors	ENST00000370742	ensembl	human	known	74_37	silent	51.85	26	28	SNP	0.945	C	C	79404882	A	C	79404882	2	2	7	1	0	0	0	0	0	0	0	1	5100	59	3	4		4	ELTD1	1	79404882	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	17446	79404882	169845739	16	1880											
PRMT6	55170	genome.wustl.edu	37	chr1	107600103	107600103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcagcgctttgctcagCtagagctctcccgcgccggc	4	7	13	17	5	2	1	1	0	1	1	3	1	2	1	3	2	4	5	3	2	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:107600103C>T	ENST00000370078.1	+	1	803	c.766C>T	c.(766-768)Cta>Tta	p.L256L	PRMT6_ENST00000361318.5_Silent_p.L197L			Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	256	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				base-excision repair (GO:0006284)|histone H3-R2 methylation (GO:0034970)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	histone binding (GO:0042393)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H2A-R3 specific) (GO:0070612)|histone methyltransferase activity (H3-R2 specific) (GO:0070611)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTTTGCTCAGCTAGAGCTCTC	0.692																																																	0													21	26	24					1																	107600103		1947	4143	6090	SO:0001819	synonymous_variant	0			AK001421	CCDS41360.1, CCDS41360.2	1p13.2	2008-02-05	2006-02-16	2006-02-16	ENSG00000198890	ENSG00000198890		"Protein arginine methyltransferases"	18241	protein-coding gene	gene with protein product		608274	"HMT1 hnRNP methyltransferase-like 6 (S. cerevisiae)"	HRMT1L6		11724789	Standard	NM_018137		Approved	FLJ10559	uc010ous.2	Q96LA8	OTTHUMG00000010964	ENST00000370078.1:c.766C>T	1.37:g.107600103C>T			A3KME1|B4DID8|Q5T5Y5|Q6DKI4|Q9NVR8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.L256	ENST00000370078.1	37	c.766	CCDS41360.2	1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562522	0.27915	.	.	ENSG00000198890	ENST00000540389	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65557	-0.6139	5	0.87932	D	0	-4.7025	10.363	0.44006	0.0:0.9112:0.0:0.0888	.	.	.	.	V	149	.	ENSP00000440829:A149V	A	+	2	0	PRMT6	107401626	1.000000	0.71417	0.902000	0.35471	0.163000	0.22366	2.708000	0.47152	2.584000	0.87258	0.442000	0.29010	GCT	PRMT6	-	pfam_Arg_MeTrfase	ENSG00000198890		0.692	PRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT6	HGNC	protein_coding	OTTHUMT00000030185.1	-	0	35	0	C	NM_018137		107600103	1	tier1	-	no_errors	ENST00000370078	ensembl	human	known	74_37	silent	32.69	35	17	SNP	1.000	T	T	107600103	C	T	107600103	2	4	7	1	0	0	0	0	0	0	0	1	12582	796	28	3		3	PRMT6	1	107600103	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	28195221	107600103	141650518	17	1881											
MEX3A	92312	genome.wustl.edu	37	chr1	156047381	156047381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggccacgtcctcccGtcgccctgtcaccatgaaca	6	8	10	17	3	1	1	1	1	0	0	4	1	3	1	5	2	1	1	5	2	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:156047381G>A	ENST00000532414.2	-	2	546	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	183	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACGTCCTCCCGTCGCCCTGTC	0.602																																																	0													37	41	40					1																	156047381		2161	4273	6434	SO:0001583	missense	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.547C>T	1.37:g.156047381G>A	ENSP00000432845:p.Arg183Trp			Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.R183W	ENST00000532414.2	37	c.547	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527144	0.64860	.	.	ENSG00000254726	ENST00000532414	T	0.31247	1.5	5.15	4.21	0.49690	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.067924	0.56097	D	0.000037	T	0.21307	0.0513	N	0.08118	0	0.47094	D	0.999312	D	0.89917	1.0	D	0.73380	0.98	T	0.29027	-1.0025	10	0.87932	D	0	.	11.4352	0.50064	0.0:0.0:0.6449:0.3551	.	183	A1L020	MEX3A_HUMAN	W	183	ENSP00000432845:R183W	ENSP00000432845:R183W	R	-	1	2	MEX3A	154314005	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.723000	0.47277	1.104000	0.41587	0.462000	0.41574	CGG	MEX3A	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000254726		0.602	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	-	0	48	0	G	NM_001093725		156047381	-1	tier1	-	no_errors	ENST00000532414	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A	A	156047381	G	A	156047381	3	1	7	1	0	0	0	0	1	0	0	0	9547	1144	40	1	1019	1	MEX3A	1	156047381	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	48447278	156047381	93203240	18	1882											
OR10X1	128367	genome.wustl.edu	37	chr1	158549548	158549548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgagaaggtagagacaaaAgaagaccacaaaaagaaatg	22	3	12	4	0	0	5	0	1	0	5	0	7	0	5	1	2	0	1	1	2	8	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:158549548A>G	ENST00000368150.1	-	1	141	c.142T>C	c.(142-144)Ttt>Ctt	p.F48L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TAGAGACAAAAGAAGACCACA	0.438																																																	0													126	125	126					1																	158549548		2203	4300	6503	SO:0001583	missense	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.142T>C	1.37:g.158549548A>G	ENSP00000357132:p.Phe48Leu		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F48L	ENST00000368150.1	37	c.142	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	A	2.291	-0.362533	0.05103	.	.	ENSG00000186400	ENST00000368150	T	0.00287	8.29	4.99	-1.43	0.08884	.	0.593583	0.15119	N	0.279519	T	0.00012	0.0000	N	0.00201	-1.865	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.25641	-1.0126	10	0.02654	T	1	.	10.819	0.46593	0.5061:0.0:0.4939:0.0	.	48	Q8NGY0	O10X1_HUMAN	L	48	ENSP00000357132:F48L	ENSP00000357132:F48L	F	-	1	0	OR10X1	156816172	0.000000	0.05858	0.406000	0.26421	0.998000	0.95712	-0.184000	0.09698	-0.154000	0.11118	0.528000	0.53228	TTT	OR10X1	-	prints_GPCR_Rhodpsn	ENSG00000186400		0.438	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0	29	0	A	NM_001004477		158549548	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	missense	42.22	26	19	SNP	0.000	G	G	158549548	A	G	158549548	3	3	7	1	0	0	0	0	1	0	0	0	10961	72	3	4	833	4	OR10X1	1	158549548	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	2502167	158549548	90701073	19	1883											
SPTA1	6708	genome.wustl.edu	37	chr1	158583608	158583608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagtcctctcaggcaggAccggaactctttgtgagtca	9	11	11	10	1	3	2	2	2	2	0	5	4	4	4	2	3	1	1	2	3	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:158583608A>G	ENST00000368147.4	-	50	7072	c.6892T>C	c.(6892-6894)Tcc>Ccc	p.S2298P	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2298	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCAGGCAGGACCGGAACTCT	0.433																																																	0													57	56	56					1																	158583608		1881	4104	5985	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6892T>C	1.37:g.158583608A>G	ENSP00000357129:p.Ser2298Pro		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S2298P	ENST00000368147.4	37	c.6892	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564413	0.65651	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.22945	1.93;1.93	5.21	4.07	0.47477	EF-hand-like domain (1);	0.000000	0.31636	N	0.007309	T	0.44371	0.1290	M	0.87758	2.905	0.48762	D	0.9997	D	0.89917	1.0	D	0.87578	0.998	T	0.54091	-0.8345	10	0.87932	D	0	.	11.3039	0.49323	0.8472:0.1528:0.0:0.0	.	2298	P02549	SPTA1_HUMAN	P	2298;2295	ENSP00000357130:S2298P;ENSP00000357129:S2295P	ENSP00000357129:S2295P	S	-	1	0	SPTA1	156850232	1.000000	0.71417	0.988000	0.46212	0.552000	0.35366	8.258000	0.89853	0.985000	0.38656	0.528000	0.53228	TCC	SPTA1	-	pfscan_EF_hand_dom	ENSG00000163554		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	58	0	A	NM_003126		158583608	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	46.03	34	29	SNP	1.000	G	G	158583608	A	G	158583608	3	3	7	1	0	0	0	0	1	0	0	0	15163	275	10	4	379	4	SPTA1	1	158583608	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	34060	158583608	90667013	20	1884											
COPA	1314	genome.wustl.edu	37	chr1	160281732	160281732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcggtccttgacataGtgtagcatattgccatgaac	13	11	9	8	1	0	3	0	2	0	1	2	3	1	3	2	1	3	2	2	1	6	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:160281732G>T	ENST00000241704.7	-	11	1231	c.1002C>A	c.(1000-1002)caC>caA	p.H334Q	COPA_ENST00000368069.3_Missense_Mutation_p.H334Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	334					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTGACATAGTGTAGCATAT	0.498																																																	0													145	115	125					1																	160281732		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1002C>A	1.37:g.160281732G>T	ENSP00000241704:p.His334Gln		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H334Q	ENST00000241704.7	37	c.1002	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585130	0.46110	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60920	2.59;0.15	4.96	2.29	0.28610	.	0.060944	0.64402	D	0.000002	T	0.23965	0.0580	N	0.14661	0.345	0.39325	D	0.965314	B;B	0.20459	0.024;0.045	B;B	0.29862	0.044;0.108	T	0.14587	-1.0467	10	0.87932	D	0	-15.3921	8.7492	0.34605	0.8014:0.0:0.1986:0.0	.	334;334	P53621;P53621-2	COPA_HUMAN;.	Q	334	ENSP00000357048:H334Q;ENSP00000241704:H334Q	ENSP00000241704:H334Q	H	-	3	2	COPA	158548356	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.898000	0.39809	0.739000	0.32628	-0.302000	0.09304	CAC	COPA	-	pirsf_Coatomer_asu	ENSG00000122218		0.498	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0	52	0	G	NM_004371		160281732	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	160281732	G	T	160281732	3	4	7	1	0	0	0	0	1	0	0	0	3734	1020	36	3	2791	3	COPA	1	160281732	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	1698124	160281732	88968889	21	1885											
ADCY10	55811	genome.wustl.edu	37	chr1	167780090	167780090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagacgtaagccatcaggtGgtagagccttgggcaaaaga	14	6	13	8	1	1	3	1	0	0	3	1	3	1	3	2	3	2	3	2	3	4	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:167780090G>T	ENST00000367851.4	-	32	4727	c.4543C>A	c.(4543-4545)Cac>Aac	p.H1515N	ADCY10_ENST00000367848.1_Missense_Mutation_p.H1423N|ADCY10_ENST00000545172.1_Missense_Mutation_p.H1362N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1515					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCATCAGGTGGTAGAGCCTT	0.443																																																	0													69	69	69					1																	167780090		2203	4300	6503	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4543C>A	1.37:g.167780090G>T	ENSP00000356825:p.His1515Asn		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.H1515N	ENST00000367851.4	37	c.4543	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006621	0.74932	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.39229	1.09;1.11;1.1	5.43	5.43	0.79202	.	0.000000	0.56097	D	0.000024	T	0.55049	0.1896	M	0.65975	2.015	0.29704	N	0.839939	D;D	0.71674	0.998;0.997	D;D	0.81914	0.995;0.989	T	0.60193	-0.7311	9	0.72032	D	0.01	-24.6154	14.757	0.69572	0.0:0.0:1.0:0.0	.	1423;1515	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1362;1515;1423	ENSP00000441992:H1362N;ENSP00000356825:H1515N;ENSP00000356822:H1423N	ENSP00000356822:H1423N	H	-	1	0	ADCY10	166046714	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.720000	0.61944	2.561000	0.86390	0.561000	0.74099	CAC	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1		0	51	0	G	NM_018417		167780090	-1			no_errors	ENST00000367851	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	167780090	G	T	167780090	3	4	7	1	0	0	0	0	1	0	0	0	293	1348	47	3	297	3	ADCY10	1	167780090	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	7498358	167780090	81470531	22	1886											
TNN	63923	genome.wustl.edu	37	chr1	175067705	175067705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagggggaccaggagagcaAgaaggccgacaccaaggccc	14	0	16	11	1	0	2	0	0	0	2	0	6	0	3	4	5	1	1	4	5	4	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:175067705A>G	ENST00000239462.4	+	9	2206	c.2093A>G	c.(2092-2094)aAg>aGg	p.K698R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	698	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGGAGAGCAAGAAGGCCGAC	0.587																																																	0													86	78	81					1																	175067705		2203	4300	6503	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2093A>G	1.37:g.175067705A>G	ENSP00000239462:p.Lys698Arg		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.K698R	ENST00000239462.4	37	c.2093	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	A	3.621	-0.077484	0.07184	.	.	ENSG00000120332	ENST00000239462	T	0.04502	3.61	5.15	-1.66	0.08265	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.440594	0.28036	N	0.016853	T	0.06234	0.0161	M	0.66439	2.03	0.26857	N	0.968035	B;B	0.21071	0.051;0.001	B;B	0.30782	0.12;0.03	T	0.43686	-0.9376	10	0.15066	T	0.55	.	9.7575	0.40513	0.4902:0.0:0.5098:0.0	.	698;698	B3KXB6;Q9UQP3	.;TENN_HUMAN	R	698	ENSP00000239462:K698R	ENSP00000239462:K698R	K	+	2	0	TNN	173334328	0.063000	0.20901	0.653000	0.29593	0.443000	0.32047	0.220000	0.17660	-0.465000	0.06953	0.383000	0.25322	AAG	TNN	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.587	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	81	0	A	XM_040527		175067705	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	59.76	33	49	SNP	0.870	G	G	175067705	A	G	175067705	3	3	7	1	0	0	0	0	1	0	0	0	16370	72	3	4	2123	4	TNN	1	175067705	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	7287615	175067705	74182916	23	1887											
FAM5B	57795	genome.wustl.edu	37	chr1	177249999	177249999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaagtacaagcctgggCtggtgcacgtgatgttggcc	9	8	14	10	1	0	1	0	1	0	0	0	1	0	1	2	3	4	5	2	3	4	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:177249999C>G	ENST00000361539.4	+	8	1999	c.1687C>G	c.(1687-1689)Ctg>Gtg	p.L563V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	563					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CAAGCCTGGGCTGGTGCACGT	0.567																																																	0													58	49	52					1																	177249999		2203	4300	6503	SO:0001583	missense	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1687C>G	1.37:g.177249999C>G	ENSP00000354481:p.Leu563Val		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.L563V	ENST00000361539.4	37	c.1687	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744418	0.30865	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14766	2.48	5.36	5.36	0.76844	.	0.074507	0.56097	D	0.000034	T	0.23611	0.0571	M	0.64997	1.995	0.49299	D	0.999777	D;B	0.60160	0.987;0.363	P;B	0.55087	0.768;0.138	T	0.00728	-1.1591	10	0.35671	T	0.21	-10.6285	8.1921	0.31374	0.1578:0.7624:0.0:0.0798	.	458;563	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	V	316;563	ENSP00000354481:L563V	ENSP00000354481:L563V	L	+	1	2	FAM5B	175516622	0.992000	0.36948	1.000000	0.80357	0.973000	0.67179	0.682000	0.25335	2.514000	0.84764	0.313000	0.20887	CTG	BRINP2	-	NULL	ENSG00000198797		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	HGNC	protein_coding	OTTHUMT00000084599.1	-	0	23	0	C	NM_021165		177249999	1	tier1	-	no_errors	ENST00000361539	ensembl	human	known	74_37	missense	64.00	9	16	SNP	1.000	G	G	177249999	C	G	177249999	3	3	7	1	0	0	0	0	1	0	0	0	5615	796	28	5	1713	5	FAM5B	1	177249999	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	2182294	177249999	72000622	24	1888											
ANGPTL1	9068	genome.wustl.edu	37	chr1	178820419	178820419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcacaggcattgtaccAccagcctcctttatgaaagt	11	11	8	11	0	0	1	0	1	0	0	1	1	1	1	4	1	3	3	4	1	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:178820419A>T	ENST00000234816.2	-	6	1768	c.1321T>A	c.(1321-1323)Tgg>Agg	p.W441R	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.W441R	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	441	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCATTGTACCACCAGCCTCCT	0.413																																																	0													125	113	117					1																	178820419		2203	4300	6503	SO:0001583	missense	0			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"Fibrinogen C domain containing"	489	protein-coding gene	gene with protein product	"angioarrestin"	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1321T>A	1.37:g.178820419A>T	ENSP00000234816:p.Trp441Arg		Q5T5Z5	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.W441R	ENST00000234816.2	37	c.1321	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930541	0.73327	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.98090	-4.71;-4.71	5.78	4.64	0.57946	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99339	0.9768	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97974	1.0345	10	0.87932	D	0	.	12.3067	0.54906	0.8729:0.0:0.0:0.1271	.	441	O95841	ANGL1_HUMAN	R	441	ENSP00000234816:W441R;ENSP00000356601:W441R	ENSP00000234816:W441R	W	-	1	0	ANGPTL1	177087042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	1.103000	0.41568	-0.327000	0.08410	TGG	ANGPTL1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000116194		0.413	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	-	0	51	0	A	NM_004673		178820419	-1	tier1	-	no_errors	ENST00000234816	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T	T	178820419	A	T	178820419	3	4	7	1	0	0	0	0	1	0	0	0	613	159	6	5	158	5	ANGPTL1	1	178820419	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	1570420	178820419	70430202	25	1889											
KCNT2	343450	genome.wustl.edu	37	chr1	196250003	196250003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaacctcagatgtagtaAgtttctgagactcagtcctg	11	12	8	10	0	3	2	2	1	1	2	5	3	5	2	3	0	1	3	3	0	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:196250003A>G	ENST00000294725.9	-	25	3812	c.2897T>C	c.(2896-2898)cTt>cCt	p.L966P	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L892P|KCNT2_ENST00000367431.4_Missense_Mutation_p.L892P|KCNT2_ENST00000367433.5_Missense_Mutation_p.L942P|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.L966R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGATGTAGTAAGTTTCTGAGA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											93	95	94					1																	196250003		2203	4300	6503	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2897T>C	1.37:g.196250003A>G	ENSP00000294725:p.Leu966Pro		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.L966P	ENST00000294725.9	37	c.2897	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384465	0.42308	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78595	-1.19;-1.19;-1.19	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000056	T	0.72366	0.3451	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B	0.13145	0.004;0.007;0.004;0.007;0.004	B;B;B;B;B	0.15484	0.006;0.013;0.013;0.013;0.006	T	0.67023	-0.5775	10	0.25106	T	0.35	-12.0344	14.9129	0.70773	1.0:0.0:0.0:0.0	.	966;924;942;892;966	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	P	942;892;966	ENSP00000356403:L942P;ENSP00000356401:L892P;ENSP00000294725:L966P	ENSP00000294725:L966P	L	-	2	0	KCNT2	194516626	1.000000	0.71417	0.507000	0.27676	0.995000	0.86356	8.347000	0.90062	2.222000	0.72286	0.455000	0.32223	CTT	KCNT2	-	NULL	ENSG00000162687		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	34	0	A	NM_198503		196250003	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	60.00	16	24	SNP	0.977	G	G	196250003	A	G	196250003	3	3	7	1	0	0	0	0	1	0	0	0	8119	72	3	4	526	4	KCNT2	1	196250003	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	17429584	196250003	53000618	26	1890											
CFH	3075	genome.wustl.edu	37	chr1	196643018	196643018	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacatcctggagatactccTtttggtacttttacccttac	8	15	7	11	0	0	1	0	0	0	1	2	3	2	2	3	3	4	1	3	3	4	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:196643018T>A	ENST00000359637.2	+	3	338	c.276T>A	c.(274-276)ccT>ccA	p.P92P	CFH_ENST00000367429.4_Silent_p.P92P|CFH_ENST00000439155.2_Silent_p.P92P			P08603	CFAH_HUMAN	complement factor H	156	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAGATACTCCTTTTGGTACTT	0.368																																																	0													154	161	158					1																	196643018		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.276T>A	1.37:g.196643018T>A			A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P92	ENST00000359637.2	37	c.276		1																																																																																			CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.368	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	-	0	70	0	T	NM_000186		196643018	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	silent	26.92	57	21	SNP	0.014	A	A	196643018	T	A	196643018	2	1	7	1	0	0	0	0	0	0	0	1	3290	1596	56	5		5	CFH	1	196643018	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	393015	196643018	52607603	27	1891											
TMEM63A	9725	genome.wustl.edu	37	chr1	226055628	226055628	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaggcaggatgacacaCagggacaaaaagctgaccac	16	4	11	10	0	0	3	0	3	0	0	0	5	0	5	1	3	1	2	1	3	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:226055628C>T	ENST00000366835.3	-	7	744	c.474G>A	c.(472-474)ctG>ctA	p.L158L	TMEM63A_ENST00000537914.1_5'Flank|TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	158					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGATGACACACAGGGACAAAA	0.542																																																	0													179	133	149					1																	226055628		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.474G>A	1.37:g.226055628C>T			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.L158	ENST00000366835.3	37	c.474	CCDS31042.1	1																																																																																			TMEM63A	-	NULL	ENSG00000196187		0.542	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	-	0	63	0	C	NM_014698		226055628	-1	tier1	-	no_errors	ENST00000366835	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.996	T	T	226055628	C	T	226055628	2	4	7	1	0	0	0	0	0	0	0	1	16237	465	17	3		3	TMEM63A	1	226055628	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	29412610	226055628	23194993	28	1892											
PCNXL2	80003	genome.wustl.edu	37	chr1	233397060	233397060	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctacagtttcctgtgctGacaactcctacacaaatgaa	12	12	5	12	0	1	2	0	2	1	0	3	2	3	2	2	0	4	2	2	0	5	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:233397060G>T	ENST00000258229.9	-	4	722	c.488C>A	c.(487-489)tCa>tAa	p.S163*	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	163						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCTGTGCTGACAACTCCTA	0.353																																																	0													113	112	112					1																	233397060		1871	4099	5970	SO:0001587	stop_gained	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.488C>A	1.37:g.233397060G>T	ENSP00000258229:p.Ser163*		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Nonsense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.S163*	ENST00000258229.9	37	c.488	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.623009	0.98396	.	.	ENSG00000135749	ENST00000258229	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	16.2182	0.82241	0.0:0.0:1.0:0.0	.	.	.	.	X	163	.	ENSP00000258229:S163X	S	-	2	0	PCNXL2	231463683	1.000000	0.71417	0.811000	0.32455	0.987000	0.75469	6.019000	0.70818	2.644000	0.89710	0.655000	0.94253	TCA	PCNXL2	-	NULL	ENSG00000135749		0.353	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0	69	0	G	NM_014801		233397060	-1	tier1	-	no_errors	ENST00000258229	ensembl	human	known	74_37	nonsense	20.00	48	12	SNP	0.990	T	T	233397060	G	T	233397060	4	4	7	1	0	0	0	0	0	1	0	0	11631	1294	45	3	6049	3	PCNXL2	1	233397060	Nonsense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	7341432	233397060	15853561	29	1893											
NID1	4811	genome.wustl.edu	37	chr1	236156998	236156998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctcgcggccgtcgCgatccacgcaccagcagtag	7	5	10	19	6	0	0	0	0	0	0	4	1	2	0	6	1	1	3	6	1	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:236156998C>T	ENST00000264187.6	-	13	2784	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	NID1_ENST00000366595.3_Missense_Mutation_p.R768H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	901	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.R901H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCGGCCGTCGCGATCCACGCA	0.697																																																	1	Substitution - Missense(1)	prostate(1)											20	20	20					1																	236156998		2200	4297	6497	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2702G>A	1.37:g.236156998C>T	ENSP00000264187:p.Arg901His		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R901H	ENST00000264187.6	37	c.2702	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023124	0.93462	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.64991	-0.13;-0.13	5.69	4.78	0.61160	Thyroglobulin type-1 (6);	0.102238	0.64402	D	0.000002	T	0.76779	0.4035	M	0.79693	2.465	0.28115	N	0.930829	D;D	0.71674	0.998;0.996	P;P	0.61722	0.819;0.893	T	0.73069	-0.4099	10	0.45353	T	0.12	.	14.0528	0.64749	0.0:0.9269:0.0:0.0731	.	768;901	P14543-2;P14543	.;NID1_HUMAN	H	901;768	ENSP00000264187:R901H;ENSP00000355554:R768H	ENSP00000264187:R901H	R	-	2	0	NID1	234223621	0.997000	0.39634	0.158000	0.22627	0.980000	0.70556	3.508000	0.53378	1.404000	0.46819	0.555000	0.69702	CGC	NID1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000116962		0.697	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2		0	26	0	C	NM_002508		236156998	-1			no_errors	ENST00000264187	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.949	T	T	236156998	C	T	236156998	3	4	7	1	0	0	0	0	1	0	0	0	10453	768	27	1	1073	1	NID1	1	236156998	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	2759938	236156998	13093623	30	1894											
ERO1LB	56605	genome.wustl.edu	37	chr1	236433178	236433178	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaattacaaccttaccttGtaataacgaaaatagtctct	18	12	3	8	1	1	0	0	0	1	0	2	1	1	0	2	0	4	1	2	0	10	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:236433178G>C	ENST00000354619.5	-	2	420	c.219C>G	c.(217-219)taC>taG	p.Y73*	RNU2-70P_ENST00000410718.1_RNA|ERO1LB_ENST00000327333.8_Nonsense_Mutation_p.Y73*	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	73					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	ACCTTACCTTGTAATAACGAA	0.328																																																	0													68	73	71					1																	236433178		2202	4296	6498	SO:0001587	stop_gained	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.219C>G	1.37:g.236433178G>C	ENSP00000346635:p.Tyr73*		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Nonsense_Mutation	SNP	pfam_Ero1,pirsf_Ero1	p.Y73*	ENST00000354619.5	37	c.219	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	g	37	6.158194	0.97334	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	.	.	.	5.53	1.05	0.20165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4269	9.749	0.40464	0.398:0.0:0.602:0.0	.	.	.	.	X	73	.	ENSP00000377574:Y73X	Y	-	3	2	ERO1LB	234499801	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.066000	0.41452	0.315000	0.23110	-0.119000	0.15052	TAC	ERO1LB	-	pfam_Ero1,pirsf_Ero1	ENSG00000086619		0.328	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	-	0	241	0	G	NM_019891		236433178	-1	tier1	-	no_errors	ENST00000354619	ensembl	human	known	74_37	nonsense	14.44	160	27	SNP	1.000	C	C	236433178	G	C	236433178	4	2	7	1	0	0	0	0	0	1	0	0	5256	1372	48	5	1244	5	ERO1LB	1	236433178	Nonsense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	276180	236433178	12817443	31	1895											
HEATR1	55127	genome.wustl.edu	37	chr1	236719125	236719125	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagagtgctgggctcggaAgtccagggcttccaggaaaa	10	7	14	10	1	1	1	1	0	0	1	4	3	3	3	2	4	1	3	2	4	3	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:236719125A>C	ENST00000366582.3	-	39	5743	c.5629T>G	c.(5629-5631)Ttc>Gtc	p.F1877V	HEATR1_ENST00000366581.2_Missense_Mutation_p.F1796V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1877					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGGCTCGGAAGTCCAGGGCT	0.493																																																	0													121	114	117					1																	236719125		2203	4300	6503	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5629T>G	1.37:g.236719125A>C	ENSP00000355541:p.Phe1877Val		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.F1877V	ENST00000366582.3	37	c.5629	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.554242	0.86231	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.44482	0.92;0.92	4.93	4.93	0.64822	BP28, C-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.051625	0.85682	D	0.000000	T	0.58878	0.2153	M	0.62088	1.915	0.80722	D	1	D;D	0.65815	0.987;0.995	P;P	0.62298	0.9;0.812	T	0.63216	-0.6687	10	0.72032	D	0.01	.	14.7392	0.69440	1.0:0.0:0.0:0.0	.	1796;1877	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	V	1877;1796	ENSP00000355541:F1877V;ENSP00000355540:F1796V	ENSP00000355540:F1796V	F	-	1	0	HEATR1	234785748	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.077000	0.94016	2.074000	0.62210	0.374000	0.22700	TTC	HEATR1	-	pfam_BP28_C_dom,superfamily_ARM-type_fold	ENSG00000119285		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	-	0	31	0	A	XM_375853		236719125	-1	tier1	-	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	C	C	236719125	A	C	236719125	3	2	7	1	0	0	0	0	1	0	0	0	7054	72	3	4	833	4	HEATR1	1	236719125	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	285947	236719125	12531496	32	1896											
RYR2	6262	genome.wustl.edu	37	chr1	237659920	237659920	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttgtgacagctgaagcaActcacctgcgagtgggctgg	8	9	13	11	1	1	2	1	2	0	0	1	3	1	2	2	2	4	3	2	2	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:237659920A>C	ENST00000366574.2	+	20	2388	c.2071A>C	c.(2071-2073)Act>Cct	p.T691P	RYR2_ENST00000360064.6_Missense_Mutation_p.T689P|RYR2_ENST00000542537.1_Missense_Mutation_p.T675P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	691	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCTGAAGCAACTCACCTGCG	0.502																																																	0													98	104	102					1																	237659920		1944	4143	6087	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2071A>C	1.37:g.237659920A>C	ENSP00000355533:p.Thr691Pro		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T689P	ENST00000366574.2	37	c.2065	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	16.12	3.034097	0.54896	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.62364	0.03;0.03;0.03	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.086601	0.47455	D	0.000234	T	0.57301	0.2044	N	0.10760	0.04	0.80722	D	1	D	0.58970	0.984	P	0.59288	0.855	T	0.57717	-0.7763	10	0.18276	T	0.48	.	16.4781	0.84144	1.0:0.0:0.0:0.0	.	691	Q92736	RYR2_HUMAN	P	691;689;675	ENSP00000355533:T691P;ENSP00000353174:T689P;ENSP00000443798:T675P	ENSP00000353174:T689P	T	+	1	0	RYR2	235726543	1.000000	0.71417	0.428000	0.26697	0.863000	0.49368	7.394000	0.79862	2.288000	0.76882	0.528000	0.53228	ACT	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	74	0	A	NM_001035		237659920	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	40.00	33	22	SNP	0.994	C	C	237659920	A	C	237659920	3	2	7	1	0	0	0	0	1	0	0	0	13814	43	2	4	2149	4	RYR2	1	237659920	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	940795	237659920	11590701	33	1897											
OR2T33	391195	genome.wustl.edu	37	chr1	248436926	248436926	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcatgtccatgagggaaAgttggctcaggaggaagtac	12	8	14	7	0	2	1	2	1	0	0	3	4	3	4	1	4	1	4	1	4	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr1:248436926A>C	ENST00000318021.2	-	1	212	c.191T>G	c.(190-192)cTt>cGt	p.L64R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGAGGGAAAGTTGGCTCAG	0.547																																																	0													88	80	83					1																	248436926		2201	4300	6501	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.191T>G	1.37:g.248436926A>C	ENSP00000324687:p.Leu64Arg		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L64R	ENST00000318021.2	37	c.191	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	17.82	3.482305	0.63962	.	.	ENSG00000177212	ENST00000318021	T	0.00520	6.85	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32055	U	0.006659	T	0.03651	0.0104	H	0.99582	4.64	0.44780	D	0.997782	D	0.62365	0.991	D	0.67725	0.953	T	0.01748	-1.1282	10	0.87932	D	0	.	10.997	0.47582	1.0:0.0:0.0:0.0	.	64	Q8NG76	O2T33_HUMAN	R	64	ENSP00000324687:L64R	ENSP00000324687:L64R	L	-	2	0	OR2T33	246503549	0.619000	0.27059	0.969000	0.41365	0.920000	0.55202	6.784000	0.75084	1.178000	0.42870	0.404000	0.27445	CTT	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177212		0.547	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0	101	0	A	NM_001004695		248436926	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	25.45	82	28	SNP	0.928	C	C	248436926	A	C	248436926	3	2	7	1	0	0	0	0	1	0	0	0	11063	72	3	4	774	4	OR2T33	1	248436926	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	10777006	248436926	813695	34	1898											
WDR35	57539	genome.wustl.edu	37	chr2	20147936	20147936	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttaccacaatcaataTcttatctgatgcagttatgg	15	13	5	8	0	3	1	1	1	2	0	3	1	3	1	1	1	3	2	1	1	8	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:20147936T>A	ENST00000345530.3	-	15	1661	c.1546A>T	c.(1546-1548)Ata>Tta	p.I516L	WDR35_ENST00000281405.4_Missense_Mutation_p.I505L|WDR35_ENST00000416055.2_Missense_Mutation_p.I81L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	516					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAATCAATATCTTATCTGAT	0.299																																																	0													41	41	41					2																	20147936		2203	4300	6503	SO:0001583	missense	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1546A>T	2.37:g.20147936T>A	ENSP00000314444:p.Ile516Leu		B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I516L	ENST00000345530.3	37	c.1546	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	T	7.059	0.566068	0.13560	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;T	0.63255	0.17;0.17;-0.03;-0.03	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.285881	0.38959	N	0.001510	T	0.23094	0.0558	N	0.00347	-1.61	0.28836	N	0.896849	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.19128	-1.0315	10	0.11485	T	0.65	-1.8717	8.8206	0.35023	0.0:0.084:0.0:0.916	.	516;505;516;81	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	L	516;505;81;51	ENSP00000314444:I516L;ENSP00000281405:I505L;ENSP00000399159:I81L;ENSP00000404409:I51L	ENSP00000281405:I505L	I	-	1	0	WDR35	20011417	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.444000	0.66587	1.959000	0.56917	0.533000	0.62120	ATA	WDR35	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p35	ENSG00000118965		0.299	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	-	0	95	0	T	NM_020779		20147936	-1	tier1	-	no_errors	ENST00000345530	ensembl	human	known	74_37	missense	38.75	49	31	SNP	1.000	A	A	20147936	T	A	20147936	3	1	7	1	0	0	0	0	1	0	0	0	17338	1435	50	5	2055	5	WDR35	2	20147936	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09		20147936	223051437	35	1899											
ATAD2B	54454	genome.wustl.edu	37	chr2	24046176	24046176	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatgaggaaacactttttGcaagactgctaggatgttgt	12	12	11	6	0	0	2	0	1	0	1	0	4	0	4	0	2	4	4	0	2	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:24046176G>A	ENST00000238789.5	-	16	2426	c.2083C>T	c.(2083-2085)Caa>Taa	p.Q695*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	695						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACACTTTTTGCAAGACTGCT	0.403																																																	0													68	66	66					2																	24046176		1921	4140	6061	SO:0001587	stop_gained	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2083C>T	2.37:g.24046176G>A	ENSP00000238789:p.Gln695*		B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q695*	ENST00000238789.5	37	c.2083	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.308264	0.98752	.	.	ENSG00000119778	ENST00000238789	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.4005	0.90514	0.0:0.0:1.0:0.0	.	.	.	.	X	695	.	ENSP00000238789:Q695X	Q	-	1	0	ATAD2B	23899680	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.399000	0.73248	2.433000	0.82419	0.561000	0.74099	CAA	ATAD2B	-	NULL	ENSG00000119778		0.403	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1		0	58	0	G	NM_017552		24046176	-1			no_errors	ENST00000238789	ensembl	human	known	74_37	nonsense	11.11	40	5	SNP	1.000	A	A	24046176	G	A	24046176	4	1	7	1	0	0	0	0	0	1	0	0	1073	1328	46	3	2345	3	ATAD2B	2	24046176	Nonsense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	3898240	24046176	219153197	36	1900											
MFSD2B	388931	genome.wustl.edu	37	chr2	24239739	24239739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggctgcacccccttcatCgccctggcctacttcttcct	3	12	7	19	1	2	0	1	0	1	0	4	0	3	0	5	2	2	2	5	2	1	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:24239739C>T	ENST00000406420.3	+	4	388	c.372C>T	c.(370-372)atC>atT	p.I124I	MFSD2B_ENST00000338315.4_Silent_p.I124I	NM_001080473.1	NP_001073942.1	A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	124					transport (GO:0006810)	integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCCCTTCATCGCCCTGGCCT	0.667																																																	0													57	63	61					2																	24239739		2062	4176	6238	SO:0001819	synonymous_variant	0				CCDS46228.1	2p23.3	2010-05-11			ENSG00000205639	ENSG00000205639			37207	protein-coding gene	gene with protein product						18694395	Standard	NM_001080473		Approved		uc002reo.2	A6NFX1	OTTHUMG00000090819	ENST00000406420.3:c.372C>T	2.37:g.24239739C>T			B5MC32	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.I124	ENST00000406420.3	37	c.372	CCDS46228.1	2																																																																																			MFSD2B	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000205639		0.667	MFSD2B-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MFSD2B	HGNC	protein_coding	OTTHUMT00000324307.1	-	0	80	0	C	NM_001080473		24239739	1	tier1	-	no_errors	ENST00000338315	ensembl	human	known	74_37	silent	37.50	35	21	SNP	0.000	T	T	24239739	C	T	24239739	2	4	7	1	0	0	0	0	0	0	0	1	9569	874	31	1		1	MFSD2B	2	24239739	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	193563	24239739	218959634	37	1901											
SLC8A1	6546	genome.wustl.edu	37	chr2	40342680	40342680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccacaccgattcccaggaAgacattcaccgcgttgctgc	9	7	10	15	3	1	1	1	0	0	1	2	3	2	2	4	2	2	2	4	2	1	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:40342680A>G	ENST00000403092.1	-	11	2668	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	SLC8A1_ENST00000405269.1_Missense_Mutation_p.F843L|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F874L|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F871L|SLC8A1_ENST00000406785.2_Missense_Mutation_p.F843L|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F843L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F843L|SLC8A1_ENST00000542756.1_Missense_Mutation_p.F874L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F843L|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F879L|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	879					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATTCCCAGGAAGACATTCACC	0.567																																																	0													106	86	93					2																	40342680		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2635T>C	2.37:g.40342680A>G	ENSP00000384763:p.Phe879Leu		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.F879L	ENST00000403092.1	37	c.2635	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675068	0.88445	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32;0.32	6.07	6.07	0.98685	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	L	0.41710	1.295	0.80722	D	1	D;D;D;D	0.89917	0.974;0.999;1.0;1.0	D;D;D;D	0.91635	0.953;0.997;0.986;0.999	T	0.71421	-0.4598	10	0.87932	D	0	.	14.5809	0.68288	1.0:0.0:0.0:0.0	.	843;866;874;879	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	L	843;879;874;879;874;843;843;879;871;866;843;843	ENSP00000383886:F843L;ENSP00000440727:F874L;ENSP00000384763:F879L;ENSP00000385678:F874L;ENSP00000385188:F843L;ENSP00000385535:F843L;ENSP00000332931:F879L;ENSP00000384908:F871L;ENSP00000385811:F843L;ENSP00000443515:F843L	ENSP00000332931:F879L	F	-	1	0	SLC8A1	40196184	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.210000	0.95106	2.326000	0.78906	0.533000	0.62120	TTC	SLC8A1	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex	ENSG00000183023		0.567	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0	40	0	A	NM_021097		40342680	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	G	G	40342680	A	G	40342680	3	3	7	1	0	0	0	0	1	0	0	0	14751	72	3	4	290	4	SLC8A1	2	40342680	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	16102941	40342680	202856693	38	1902											
MBD5	55777	genome.wustl.edu	37	chr2	149247238	149247238	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtcaacagtacaactcAgatcagccccattccagctc	12	8	6	15	0	3	1	3	0	0	1	5	1	4	1	3	0	6	3	3	0	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:149247238A>C	ENST00000407073.1	+	12	4335	c.3338A>C	c.(3337-3339)cAg>cCg	p.Q1113P	MBD5_ENST00000404807.1_Missense_Mutation_p.Q1346P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1113					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGTACAACTCAGATCAGCCCC	0.502																																																	0													134	127	129					2																	149247238		2203	4300	6503	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3338A>C	2.37:g.149247238A>C	ENSP00000386049:p.Gln1113Pro		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.Q1113P	ENST00000407073.1	37	c.3338	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088861	0.36855	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.20598	2.06;2.06	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000018	T	0.32406	0.0828	N	0.19112	0.55	0.58432	D	0.999997	D;D	0.69078	0.994;0.997	D;D	0.78314	0.986;0.991	T	0.16988	-1.0384	10	0.87932	D	0	-3.5957	15.6116	0.76727	1.0:0.0:0.0:0.0	.	1346;1113	E9PHH0;Q9P267	.;MBD5_HUMAN	P	1113;1346	ENSP00000386049:Q1113P;ENSP00000384672:Q1346P	ENSP00000384672:Q1346P	Q	+	2	0	MBD5	148963708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.336000	0.90033	2.276000	0.75962	0.455000	0.32223	CAG	MBD5	-	NULL	ENSG00000204406		0.502	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0	51	0	A			149247238	1	tier1	-	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	29.23	46	19	SNP	1.000	C	C	149247238	A	C	149247238	3	2	7	1	0	0	0	0	1	0	0	0	9385	188	7	4	3364	4	MBD5	2	149247238	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	108904558	149247238	93952135	39	1903											
TTN	7273	genome.wustl.edu	37	chr2	179433705	179433705	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgttcaggttttgtccaActcagagagacactgtttct	9	15	8	9	0	4	2	3	0	1	2	5	3	5	2	1	1	1	3	1	1	1	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:179433705A>C	ENST00000591111.1	-	276	72455	c.72231T>G	c.(72229-72231)agT>agG	p.S24077R	TTN_ENST00000342992.6_Missense_Mutation_p.S23150R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S25718R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S16845R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16778R|TTN_ENST00000460472.2_Missense_Mutation_p.S16653R|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24077	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTGTCCAACTCAGAGAGA	0.433																																																	0													207	196	200					2																	179433705		2002	4177	6179	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72231T>G	2.37:g.179433705A>C	ENSP00000465570:p.Ser24077Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S23150R	ENST00000591111.1	37	c.69450		2	.	.	.	.	.	.	.	.	.	.	A	9.910	1.209355	0.22205	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.74	-3.11	0.05299	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45657	0.1353	M	0.69248	2.105	0.41412	D	0.98774	B;B;B;B	0.33777	0.211;0.211;0.211;0.425	B;B;B;B	0.24155	0.051;0.051;0.051;0.051	T	0.39354	-0.9618	9	0.87932	D	0	.	6.8303	0.23907	0.2855:0.0:0.4902:0.2243	.	16653;16778;16845;24077	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	23150;16653;16845;16778;16651	ENSP00000343764:S23150R;ENSP00000434586:S16653R;ENSP00000340554:S16845R;ENSP00000352154:S16778R	ENSP00000340554:S16845R	S	-	3	2	TTN	179141951	0.805000	0.28982	0.990000	0.47175	0.998000	0.95712	0.043000	0.13971	-0.446000	0.07149	0.528000	0.53228	AGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	65	0	A	NM_133378		179433705	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	26.67	44	16	SNP	0.787	C	C	179433705	A	C	179433705	3	2	7	1	0	0	0	0	1	0	0	0	16784	40	2	4	30973	4	TTN	2	179433705	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	30186467	179433705	63765668	40	1904											
TTN	7273	genome.wustl.edu	37	chr2	179434236	179434236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacctttccccatttaacTtctggtgtaggacgaccttt	7	15	6	13	1	1	0	0	0	1	0	3	2	3	1	5	2	1	1	5	2	2	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:179434236T>G	ENST00000591111.1	-	276	71924	c.71700A>C	c.(71698-71700)gaA>gaC	p.E23900D	TTN_ENST00000342992.6_Missense_Mutation_p.E22973D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E25541D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16668D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16601D|TTN_ENST00000460472.2_Missense_Mutation_p.E16476D|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23900	Ig-like 120.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCATTTAACTTCTGGTGTAG	0.403																																																	0													92	81	84					2																	179434236		1889	4129	6018	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71700A>C	2.37:g.179434236T>G	ENSP00000465570:p.Glu23900Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E22973D	ENST00000591111.1	37	c.68919		2	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798366	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.55	4.4	0.53042	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65354	0.2683	L	0.48174	1.505	0.35192	D	0.773436	D;D;D;D	0.56746	0.977;0.977;0.977;0.958	P;P;P;P	0.50590	0.645;0.645;0.645;0.552	T	0.75210	-0.3398	9	0.87932	D	0	.	8.2447	0.31682	0.0:0.1493:0.0:0.8507	.	16476;16601;16668;23900	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	22973;16476;16668;16601;16474	ENSP00000343764:E22973D;ENSP00000434586:E16476D;ENSP00000340554:E16668D;ENSP00000352154:E16601D	ENSP00000340554:E16668D	E	-	3	2	TTN	179142482	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.683000	0.37638	2.108000	0.64289	0.533000	0.62120	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	35	0	T	NM_133378		179434236	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	54.39	26	31	SNP	1.000	G	G	179434236	T	G	179434236	3	3	7	1	0	0	0	0	1	0	0	0	16784	1606	56	4	31504	4	TTN	2	179434236	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	531	179434236	63765137	41	1905											
TRAK2	66008	genome.wustl.edu	37	chr2	202254099	202254099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaagaccagactcaaaagGttttgctgtcatgatgacac	13	10	9	9	0	2	5	2	3	0	2	2	5	2	5	1	1	1	2	1	1	3	2	rs368306993		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:202254099G>A	ENST00000332624.3	-	12	1749	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	441	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GACTCAAAAGGTTTTGCTGTC	0.512																																																	0								G	SER/PRO	0,4406		0,0,2203	139	134	136		1321	5.9	1	2		136	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAK2	NM_015049.2	74	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	441/915	202254099	1,13005	2203	4300	6503	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1321C>T	2.37:g.202254099G>A	ENSP00000328875:p.Pro441Ser		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.P441S	ENST00000332624.3	37	c.1321	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027378	0.75390	0.0	1.16E-4	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.53423	0.62	5.9	5.9	0.94986	Trafficking kinesin-binding protein domain (1);	0.064020	0.64402	D	0.000006	T	0.67031	0.2850	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.61058	-0.7139	10	0.36615	T	0.2	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	441	O60296	TRAK2_HUMAN	S	441;347	ENSP00000328875:P441S	ENSP00000328875:P441S	P	-	1	0	TRAK2	201962344	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.094000	0.76944	2.788000	0.95919	0.650000	0.86243	CCT	TRAK2	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000115993		0.512	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	-	0	57	0	G	NM_015049		202254099	-1	tier1	-	no_errors	ENST00000332624	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	A	A	202254099	G	A	202254099	3	1	7	1	0	0	0	0	1	0	0	0	16498	1261	44	3	1443	3	TRAK2	2	202254099	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	22819863	202254099	40945274	42	1906											
ZDBF2	57683	genome.wustl.edu	37	chr2	207169788	207169789	+	Frame_Shift_Ins	INS	-	-	C																															aatagaagcaacttggtacgINSccccccagtgatttgtaatg																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:207169788_207169789insC	ENST00000374423.3	+	5	922_923	c.536_537insC	c.(535-540)cgccccfs	p.RP179fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	179							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACTTGGTACGCCCCCCAGTGA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.542dupC	2.37:g.207169794_207169794dupC	ENSP00000363545:p.Arg179fs		Q6ZNP7|Q6ZSN8	Frame_Shift_Ins	INS	pfam_Znf_DBF,smart_Znf_DBF	p.V182fs	ENST00000374423.3	37	c.536_537	CCDS46501.1	2																																																																																			ZDBF2	-	NULL	ENSG00000204186		0.426	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0	58	0	-	NM_020923		207169789	1	tier1		no_errors	ENST00000374423	ensembl	human	known	74_37	frame_shift_ins	50.88	28	29	INS	0.000:0.000	C	C	207169789	-	C	207169788	7	5	7	1	0	1	1	0	0	0	0	0	17647	1087	38	0	546	0	ZDBF2	2	207169788	Frame_Shift_Ins	INS	-	TCGA-2H-A9GL-01A-12D-A37C-09	4915689	207169788	36029585	43	1907											
DYTN	391475	genome.wustl.edu	37	chr2	207530608	207530608	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatacctgtaggtcccgtcTtatctgttgtagcttggtcc	5	17	9	10	1	2	0	0	0	2	0	4	0	4	0	3	2	2	4	3	2	5	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:207530608T>G	ENST00000452335.2	-	10	1242	c.1126A>C	c.(1126-1128)Aga>Cga	p.R376R		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	376						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGGTCCCGTCTTATCTGTTGT	0.458																																																	0													208	196	200					2																	207530608		1915	4133	6048	SO:0001819	synonymous_variant	0			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1126A>C	2.37:g.207530608T>G				Silent	SNP	pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ	p.R376	ENST00000452335.2	37	c.1126	CCDS46502.1	2																																																																																			DYTN	-	NULL	ENSG00000232125		0.458	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYTN	HGNC	protein_coding	OTTHUMT00000336799.1	-	0	82	0	T			207530608	-1	tier1	-	no_errors	ENST00000452335	ensembl	human	known	74_37	silent	7.87	82	7	SNP	0.049	G	G	207530608	T	G	207530608	2	3	7	1	0	0	0	0	0	0	0	1	4875	1617	56	4		4	DYTN	2	207530608	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	360820	207530608	35668765	44	1908											
MAP2	4133	genome.wustl.edu	37	chr2	210595014	210595014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtggcatcaccccgaCgactcagcaatgtctcctcg	8	7	9	17	4	3	0	2	0	1	0	5	2	3	0	4	1	2	2	4	1	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:210595014C>T	ENST00000360351.4	+	15	5883	c.5377C>T	c.(5377-5379)Cga>Tga	p.R1793*	MAP2_ENST00000447185.1_Nonsense_Mutation_p.R1789*|MAP2_ENST00000199940.6_Nonsense_Mutation_p.R525*|MAP2_ENST00000361559.4_Nonsense_Mutation_p.R437*|MAP2_ENST00000392194.1_Nonsense_Mutation_p.R437*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1793					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCACCCCGACGACTCAGCAA	0.552																																					Pancreas(27;423 979 28787 29963)												0													89	80	83					2																	210595014		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5377C>T	2.37:g.210595014C>T	ENSP00000353508:p.Arg1793*		Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.R1793*	ENST00000360351.4	37	c.5377	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	46	12.937441	0.99707	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	.	.	.	5.48	4.57	0.56435	.	0.000000	0.45606	D	0.000359	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-8.7007	14.3242	0.66507	0.2584:0.7416:0.0:0.0	.	.	.	.	X	525;1793;437;437;1789	.	ENSP00000199940:R525X	R	+	1	2	MAP2	210303259	0.990000	0.36364	0.998000	0.56505	0.993000	0.82548	2.613000	0.46351	2.571000	0.86741	0.650000	0.86243	CGA	MAP2	-	NULL	ENSG00000078018		0.552	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	28	0	C	NM_001039538		210595014	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	nonsense	50.00	21	21	SNP	1.000	T	T	210595014	C	T	210595014	4	4	7	1	0	0	0	0	0	1	0	0	9273	528	19	1	5695	1	MAP2	2	210595014	Nonsense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	3064406	210595014	32604359	45	1909											
LANCL1	10314	genome.wustl.edu	37	chr2	211302544	211302544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagctggcagacgtagtctAcactgggcttgaccaaacta	11	9	10	11	1	2	2	1	1	1	1	2	2	2	2	1	2	3	4	1	2	4	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:211302544A>G	ENST00000443314.1	-	6	1085	c.743T>C	c.(742-744)gTa>gCa	p.V248A	LANCL1_ENST00000233714.4_Missense_Mutation_p.V248A|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.V248A|LANCL1_ENST00000441020.3_Missense_Mutation_p.V248A|LANCL1_ENST00000431941.2_Missense_Mutation_p.V248A			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	248					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GACGTAGTCTACACTGGGCTT	0.463																																																	0													96	89	92					2																	211302544		2203	4300	6503	SO:0001583	missense	0			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.743T>C	2.37:g.211302544A>G	ENSP00000388713:p.Val248Ala			Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.V248A	ENST00000443314.1	37	c.743	CCDS2392.1	2	.	.	.	.	.	.	.	.	.	.	A	28.4	4.917906	0.92249	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.62	5.62	0.85841	Six-hairpin glycosidase-like (1);	0.174867	0.49305	D	0.000152	T	0.61110	0.2321	M	0.86651	2.83	0.58432	D	0.999999	P	0.44139	0.827	P	0.49387	0.609	T	0.69168	-0.5216	10	0.87932	D	0	.	15.8159	0.78599	1.0:0.0:0.0:0.0	.	248	O43813	LANC1_HUMAN	A	248	ENSP00000388713:V248A;ENSP00000393323:V248A;ENSP00000393597:V248A;ENSP00000233714:V248A;ENSP00000397646:V248A	ENSP00000233714:V248A	V	-	2	0	LANCL1	211010789	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.962000	0.93254	2.133000	0.65898	0.482000	0.46254	GTA	LANCL1	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like	ENSG00000115365		0.463	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LANCL1	HGNC	protein_coding	OTTHUMT00000336817.1	-	0	39	0	A	NM_006055		211302544	-1	tier1	-	no_errors	ENST00000233714	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	G	G	211302544	A	G	211302544	3	3	7	1	0	0	0	0	1	0	0	0	8648	391	14	4	472	4	LANCL1	2	211302544	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	707530	211302544	31896829	46	1910											
CPS1	1373	genome.wustl.edu	37	chr2	211525224	211525224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaggtgattgagtgtaacTtgagagcttctcgatccttc	8	15	10	8	1	2	3	1	3	1	1	5	5	3	3	1	1	2	2	1	1	1	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:211525224T>A	ENST00000233072.5	+	32	3968	c.3772T>A	c.(3772-3774)Ttg>Atg	p.L1258M	CPS1_ENST00000451903.2_Missense_Mutation_p.L807M|CPS1_ENST00000430249.2_Missense_Mutation_p.L1264M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1258	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGAGTGTAACTTGAGAGCTTC	0.403																																																	0													257	238	244					2																	211525224		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3772T>A	2.37:g.211525224T>A	ENSP00000233072:p.Leu1258Met		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.L1264M	ENST00000233072.5	37	c.3790	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594004	0.66219	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97328	-4.34;-4.34;-4.34	5.98	-1.13	0.09775	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.93854	3.465	0.39491	D	0.968058	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.98931	1.0787	10	0.87932	D	0	-5.6959	12.7021	0.57038	0.0:0.4643:0.0:0.5357	.	1268;1258	Q59HF8;P31327	.;CPSM_HUMAN	M	1264;1266;1258;807	ENSP00000402608:L1264M;ENSP00000233072:L1258M;ENSP00000406136:L807M	ENSP00000233072:L1258M	L	+	1	2	CPS1	211233469	0.998000	0.40836	0.992000	0.48379	0.952000	0.60782	0.625000	0.24477	-0.119000	0.11830	-0.242000	0.12053	TTG	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.403	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	32	0	T			211525224	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.980	A	A	211525224	T	A	211525224	3	1	7	1	0	0	0	0	1	0	0	0	3830	1606	56	5	3920	5	CPS1	2	211525224	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	222680	211525224	31674149	47	1911											
FN1	2335	genome.wustl.edu	37	chr2	216245755	216245755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcccaagcaattttgatgGaatcgacatccacatcagtg	12	12	7	10	1	1	1	1	1	0	0	4	3	3	2	2	1	1	1	2	1	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:216245755G>A	ENST00000359671.1	-	32	5205	c.4940C>T	c.(4939-4941)tCc>tTc	p.S1647F	FN1_ENST00000346544.3_Missense_Mutation_p.S1647F|FN1_ENST00000357009.2_Missense_Mutation_p.S1647F|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000421182.1_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.S1647F|FN1_ENST00000443816.1_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.S1647F|FN1_ENST00000356005.4_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.S1738F|FN1_ENST00000323926.6_Missense_Mutation_p.S1738F|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Missense_Mutation_p.S1647F			P02751	FINC_HUMAN	fibronectin 1	1647	Fibronectin type-III 12; extra domain. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AATTTTGATGGAATCGACATC	0.463																																																	0													116	106	109					2																	216245755		2203	4300	6503	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4940C>T	2.37:g.216245755G>A	ENSP00000352696:p.Ser1647Phe		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.S1738F	ENST00000359671.1	37	c.5213		2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758604	0.89843	.	.	ENSG00000115414	ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046	T;T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	D	0.85414	0.5691	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999	D;D;D;D;D;D	0.97110	0.999;0.981;0.999;1.0;0.999;0.999	D	0.87195	0.2237	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1647;1738;1647;1647;1648;1738	F8W7G7;P02751-7;E9PE77;P02751-3;E7ERA1;P02751-15	.;.;.;.;.;.	F	1738;1647;1738;1648;1647;1647;1647;1647;1647	ENSP00000323534:S1738F;ENSP00000338200:S1647F;ENSP00000346839:S1738F;ENSP00000352696:S1647F;ENSP00000265312:S1647F;ENSP00000273049:S1647F;ENSP00000349509:S1647F;ENSP00000410422:S1647F	ENSP00000265313:S1648F	S	-	2	0	FN1	215954000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.463	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding			0	37	0	G	NM_212476		216245755	-1			no_errors	ENST00000354785	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	216245755	G	A	216245755	3	1	7	1	0	0	0	0	1	0	0	0	5984	1174	41	3	2276	3	FN1	2	216245755	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4720531	216245755	26953618	48	1912											
DGKD	8527	genome.wustl.edu	37	chr2	234372820	234372820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcagcagctggatcCgcctcagaaggagcagctgg	9	5	15	12	1	1	1	1	0	0	1	2	4	2	4	3	4	5	5	3	4	1	0	rs373084771		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:234372820C>A	ENST00000264057.2	+	27	3209	c.3197C>A	c.(3196-3198)cCg>cAg	p.P1066Q	DGKD_ENST00000409813.3_Missense_Mutation_p.P1022Q	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1066					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGCTGGATCCGCCTCAGAAG	0.672																																																	0													32	36	35					2																	234372820		2203	4299	6502	SO:0001583	missense	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3197C>A	2.37:g.234372820C>A	ENSP00000264057:p.Pro1066Gln		Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P1066Q	ENST00000264057.2	37	c.3197	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628215	0.46944	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79352	-1.1;-1.26	4.96	4.08	0.47627	.	0.073886	0.56097	D	0.000038	T	0.79644	0.4481	M	0.67953	2.075	0.43814	D	0.996373	P;P	0.43938	0.822;0.76	P;B	0.46940	0.532;0.393	T	0.80730	-0.1252	10	0.48119	T	0.1	.	13.5323	0.61629	0.0:0.9252:0.0:0.0748	.	1022;1066	Q16760-2;Q16760	.;DGKD_HUMAN	Q	1066;1022	ENSP00000264057:P1066Q;ENSP00000386455:P1022Q	ENSP00000264057:P1066Q	P	+	2	0	DGKD	234037559	1.000000	0.71417	0.950000	0.38849	0.900000	0.52787	4.378000	0.59568	1.464000	0.47987	0.655000	0.94253	CCG	DGKD	-	NULL	ENSG00000077044		0.672	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2		0	22	0	C	NM_003648		234372820	1			no_errors	ENST00000264057	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	A	A	234372820	C	A	234372820	3	1	7	1	0	0	0	0	1	0	0	0	4481	652	23	2	3327	2	DGKD	2	234372820	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	18127065	234372820	8826553	49	1913											
HDAC4	9759	genome.wustl.edu	37	chr2	240085519	240085519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaccagtagcgagggtcGctggaaatgcagtggttcag	9	8	15	9	3	1	0	1	0	0	0	2	2	1	1	2	3	3	5	2	3	3	3	rs541806713	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr2:240085519G>A	ENST00000345617.3	-	6	1382	c.591C>T	c.(589-591)agC>agT	p.S197S	HDAC4_ENST00000541256.1_Silent_p.S166S|AC017028.1_ENST00000396489.1_5'Flank	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	197	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S197S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGCGAGGGTCGCTGGAAATGC	0.567													G|||	2	0.000399361	8e-04	0	5008	,	,		17360	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	urinary_tract(1)											129	129	129					2																	240085519		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.591C>T	2.37:g.240085519G>A			Q9UND6	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.S197	ENST00000345617.3	37	c.591	CCDS2529.1	2																																																																																			HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.567	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0	38	0	G	NM_006037		240085519	-1			no_errors	ENST00000345617	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.156	A	A	240085519	G	A	240085519	2	1	7	1	0	0	0	0	0	0	0	1	7036	1078	38	1		1	HDAC4	2	240085519	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	5712699	240085519	3113854	50	1914											
ITPR1	3708	genome.wustl.edu	37	chr3	4856144	4856144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacggaacaggataaagaGcacacatgtgagacgctgct	15	5	13	8	2	0	3	0	1	0	3	0	7	0	5	0	2	3	3	0	2	3	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:4856144G>T	ENST00000443694.2	+	55	7554	c.7554G>T	c.(7552-7554)gaG>gaT	p.E2518D	ITPR1_ENST00000357086.4_Missense_Mutation_p.E2485D|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2470D|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000544951.1_Missense_Mutation_p.E496D|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2485D|ITPR1_ENST00000354582.6_Missense_Mutation_p.E2518D|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2518D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2533	Interaction with ERP44. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGGATAAAGAGCACACATGTG	0.532																																																	0													105	111	109					3																	4856144		2072	4219	6291	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7554G>T	3.37:g.4856144G>T	ENSP00000401671:p.Glu2518Asp		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E2518D	ENST00000443694.2	37	c.7554	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527230	0.85706	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	5.11	0.548	0.17208	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	L	0.48642	1.525	0.41161	D	0.986097	P;D;P	0.76494	0.786;0.999;0.876	P;D;P	0.71184	0.771;0.972;0.755	D	0.94612	0.7805	10	0.19147	T	0.46	.	8.7855	0.34818	0.5222:0.0:0.4778:0.0	.	496;2533;2485	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	D	2533;2518;2518;2485;979;2485;2470;496;2518	ENSP00000306253:E2518D;ENSP00000346595:E2518D;ENSP00000405934:E2485D;ENSP00000349597:E2485D;ENSP00000397885:E2470D;ENSP00000440564:E496D;ENSP00000401671:E2518D	ENSP00000306253:E2518D	E	+	3	2	ITPR1	4831144	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	2.244000	0.43124	0.167000	0.19631	0.650000	0.86243	GAG	ITPR1	-	pfam_Ion_trans_dom	ENSG00000150995		0.532	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3		0	43	0	G	NM_002222		4856144	1			no_errors	ENST00000302640	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	4856144	G	T	4856144	3	4	7	1	0	0	0	0	1	0	0	0	7947	962	34	3	7821	3	ITPR1	3	4856144	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09		4856144	193166286	51	1915											
SETD5	55209	genome.wustl.edu	37	chr3	9482266	9482266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcagatgtacagaacGcgcttgaacaacacctacat	15	7	8	11	2	0	3	0	1	0	2	0	3	0	3	1	0	6	3	1	0	5	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:9482266G>A	ENST00000406341.1	+	7	884	c.694G>A	c.(694-696)Gcg>Acg	p.A232T	SETD5_ENST00000407969.1_Missense_Mutation_p.A251T|SETD5_ENST00000302463.6_Missense_Mutation_p.A134T|SETD5_ENST00000402466.1_Missense_Mutation_p.A134T|SETD5_ENST00000402198.1_Missense_Mutation_p.A232T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	232										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TGTACAGAACGCGCTTGAACA	0.393																																																	0													100	95	97					3																	9482266		1902	4120	6022	SO:0001583	missense	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.694G>A	3.37:g.9482266G>A	ENSP00000383939:p.Ala232Thr		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.A232T	ENST00000406341.1	37	c.694	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552695	0.65425	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.91843	-2.59;-2.92;-2.59;-2.59;0.92;-2.92	5.37	4.44	0.53790	.	0.318231	0.29964	N	0.010742	T	0.79811	0.4510	N	0.08118	0	0.30897	N	0.72975	P;P;P	0.49358	0.923;0.509;0.493	B;B;B	0.39152	0.292;0.077;0.089	T	0.77838	-0.2439	10	0.24483	T	0.36	-4.0829	9.0494	0.36367	0.0:0.3939:0.4847:0.1214	.	134;232;251	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	T	232;134;232;251;121;134	ENSP00000385852:A232T;ENSP00000384429:A134T;ENSP00000383939:A232T;ENSP00000384114:A251T;ENSP00000408837:A121T;ENSP00000302028:A134T	ENSP00000302028:A134T	A	+	1	0	SETD5	9457266	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	2.303000	0.43646	2.697000	0.92050	0.655000	0.94253	GCG	SETD5	-	NULL	ENSG00000168137		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	-	0	71	0	G	XM_371614		9482266	1	tier1	-	no_errors	ENST00000402198	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	A	A	9482266	G	A	9482266	3	1	7	1	0	0	0	0	1	0	0	0	14179	1087	38	1	716	1	SETD5	3	9482266	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4626122	9482266	188540164	52	1916											
IL17RE	132014	genome.wustl.edu	37	chr3	9948053	9948053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctcccctgcacaggtcttCaacggggcctcttccacctc	5	10	8	18	1	4	0	1	0	3	0	7	0	5	0	5	3	2	1	5	3	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:9948053C>G	ENST00000383814.3	+	4	379	c.274C>G	c.(274-276)Caa>Gaa	p.Q92E	IL17RE_ENST00000454190.2_Missense_Mutation_p.Q92E|IL17RE_ENST00000421412.1_Missense_Mutation_p.Q125E|IL17RE_ENST00000295980.3_Missense_Mutation_p.Q92E	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	92					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CACAGGTCTTCAACGGGGCCT	0.483																																																	0													60	60	60					3																	9948053		2203	4300	6503	SO:0001583	missense	0			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.274C>G	3.37:g.9948053C>G	ENSP00000373325:p.Gln92Glu		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	pfam_SEFIR	p.Q125E	ENST00000383814.3	37	c.373	CCDS2589.1	3	.	.	.	.	.	.	.	.	.	.	C	9.582	1.123939	0.20959	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992	T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48	5.43	1.52	0.23074	.	0.937844	0.08960	N	0.868830	T	0.10637	0.0260	L	0.48642	1.525	0.09310	N	1	B;B;B	0.29646	0.034;0.253;0.049	B;B;B	0.28232	0.037;0.087;0.024	T	0.38243	-0.9670	10	0.26408	T	0.33	-0.5855	2.2991	0.04158	0.1565:0.5241:0.1515:0.1679	.	92;92;92	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	E	125;92;92;92;52	ENSP00000404916:Q125E;ENSP00000295980:Q92E;ENSP00000373325:Q92E;ENSP00000388086:Q92E;ENSP00000400768:Q52E	ENSP00000295980:Q92E	Q	+	1	0	IL17RE	9923053	0.078000	0.21339	0.097000	0.21041	0.006000	0.05464	0.092000	0.15066	0.421000	0.25980	-0.152000	0.13540	CAA	IL17RE	-	NULL	ENSG00000163701		0.483	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RE	HGNC	protein_coding	OTTHUMT00000250529.1	-	0	75	0	C	NM_153480		9948053	1	tier1	-	no_errors	ENST00000421412	ensembl	human	known	74_37	missense	28.57	40	16	SNP	0.072	G	G	9948053	C	G	9948053	3	3	7	1	0	0	0	0	1	0	0	0	7670	827	29	5	288	5	IL17RE	3	9948053	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	465787	9948053	188074377	53	1917											
CLASP2	23122	genome.wustl.edu	37	chr3	33584956	33584956	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtattctgtgatgtattggTaggagaagtaagaggactgg	12	12	15	2	0	1	3	0	1	1	2	1	5	1	4	0	4	0	4	0	4	5	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:33584956T>A	ENST00000468888.2	-	32	3443	c.3397A>T	c.(3397-3399)Acc>Tcc	p.T1133S	CLASP2_ENST00000359576.5_Missense_Mutation_p.T1124S|CLASP2_ENST00000539981.1_Missense_Mutation_p.T902S|CLASP2_ENST00000461133.3_Missense_Mutation_p.T892S|CLASP2_ENST00000399362.4_Missense_Mutation_p.T1132S|CLASP2_ENST00000307312.7_Missense_Mutation_p.T614S|CLASP2_ENST00000480013.1_Missense_Mutation_p.T912S			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	913	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GATGTATTGGTAGGAGAAGTA	0.388																																																	0													150	147	148					3																	33584956		1875	4114	5989	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3397A>T	3.37:g.33584956T>A	ENSP00000419974:p.Thr1133Ser		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T1132S	ENST00000468888.2	37	c.3394		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.4|28.4	4.919857|4.919857	0.92249|0.92249	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133|ENST00000480385	T;T;T|.	0.19669|.	2.16;2.15;2.13|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50514|0.50514	0.1620|0.1620	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P|.	0.76494|.	0.999;0.998;0.598|.	D;D;B|.	0.76071|.	0.986;0.987;0.341|.	T|T	0.47898|0.47898	-0.9081|-0.9081	10|5	0.07644|.	T|.	0.81|.	-16.1308|-16.1308	14.588|14.588	0.68342|0.68342	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	913;1124;1132|.	O75122;F5H604;E7ERI8|.	CLAP2_HUMAN;.;.|.	S|F	1133;1132;1124;614;902;912;892|188	ENSP00000419974:T1133S;ENSP00000382297:T1132S;ENSP00000352581:T1124S|.	ENSP00000304743:T614S|.	T|Y	-|-	1|2	0|0	CLASP2|CLASP2	33559960|33559960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.717000|7.717000	0.84732|0.84732	2.178000|2.178000	0.69098|0.69098	0.477000|0.477000	0.44152|0.44152	ACC|TAC	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.388	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	-	0	46	0	T	NM_001207044		33584956	-1	tier1	-	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	A	A	33584956	T	A	33584956	3	1	7	1	0	0	0	0	1	0	0	0	3462	1638	57	5	1179	5	CLASP2	3	33584956	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	23636903	33584956	164437474	54	1918											
ZNF619	285267	genome.wustl.edu	37	chr3	40528735	40528735	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaccttcagatataactCaaaactgtcacggcatcaga	17	8	6	10	1	4	2	4	0	0	2	4	3	4	2	1	1	3	1	1	1	6	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:40528735C>A	ENST00000314686.5	+	6	1091	c.686C>A	c.(685-687)tCa>tAa	p.S229*	ZNF619_ENST00000429348.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000522736.1_Nonsense_Mutation_p.S236*|ZNF619_ENST00000521353.1_Nonsense_Mutation_p.S285*|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000456778.1_Nonsense_Mutation_p.S201*|ZNF619_ENST00000432264.2_Nonsense_Mutation_p.S245*|ZNF619_ENST00000447116.2_Nonsense_Mutation_p.S285*			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S229*(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGATATAACTCAAAACTGTCA	0.428																																																	1	Substitution - Nonsense(1)	cervix(1)											60	61	61					3																	40528735		2203	4300	6503	SO:0001587	stop_gained	0			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"Zinc fingers, C2H2-type", "-"	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.686C>A	3.37:g.40528735C>A	ENSP00000322529:p.Ser229*		B4E271|C9JRN5|D4PHA2|E9PCD9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S285*	ENST00000314686.5	37	c.854		3	.	.	.	.	.	.	.	.	.	.	C	36	5.611296	0.96637	.	.	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	.	.	.	2.64	2.64	0.31445	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0164	0.47691	0.0:1.0:0.0:0.0	.	.	.	.	X	229;285;245;201;236;285;245	.	ENSP00000322529:S229X	S	+	2	0	ZNF619	40503739	0.000000	0.05858	0.977000	0.42913	0.991000	0.79684	0.397000	0.20883	1.499000	0.48617	0.563000	0.77884	TCA	ZNF619	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177873		0.428	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2		0	31	0	C	NM_173656		40528735	1			no_errors	ENST00000447116	ensembl	human	known	74_37	nonsense	16.67	14	3	SNP	0.009	A	A	40528735	C	A	40528735	4	1	7	1	0	0	0	0	0	1	0	0	18091	838	29	3	894	3	ZNF619	3	40528735	Nonsense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	6943779	40528735	157493695	55	1919											
ITIH1	3697	genome.wustl.edu	37	chr3	52818319	52818319	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcttgcaggggtgacGgaccgttcccaaatcctcaa	8	9	13	11	2	1	1	1	1	0	0	3	2	3	2	3	4	1	3	3	4	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:52818319G>A	ENST00000273283.2	+	11	1257	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	ITIH1_ENST00000540715.1_Silent_p.T269T|ITIH1_ENST00000542827.1_Silent_p.T411T|ITIH1_ENST00000537050.1_Silent_p.T123T	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	411	Hyaluronan-binding.|VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGGGGTGACGGACCGTTCCC	0.617																																																	0													54	47	49					3																	52818319		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1233G>A	3.37:g.52818319G>A			A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.T411	ENST00000273283.2	37	c.1233	CCDS2864.1	3																																																																																			ITIH1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000055957		0.617	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	-	0	53	0	G	NM_002215		52818319	1	tier1	-	no_errors	ENST00000273283	ensembl	human	known	74_37	silent	56.52	20	26	SNP	0.002	A	A	52818319	G	A	52818319	2	1	7	1	0	0	0	0	0	0	0	1	7930	1103	39	1		1	ITIH1	3	52818319	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	12289584	52818319	145204111	56	1920											
PHLDB2	90102	genome.wustl.edu	37	chr3	111603396	111603396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctcaaggcataaatcgCatgacaatgtctactctctt	13	12	6	10	1	3	1	1	1	2	0	5	1	3	1	0	1	2	3	0	1	6	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:111603396C>A	ENST00000431670.2	+	2	883	c.472C>A	c.(472-474)Cat>Aat	p.H158N	PHLDB2_ENST00000393925.3_Missense_Mutation_p.H158N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.H158N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H185N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.H158N|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H158N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.H158N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	158						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCATAAATCGCATGACAATGT	0.527																																																	0													75	79	78					3																	111603396		2203	4300	6503	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.472C>A	3.37:g.111603396C>A	ENSP00000405405:p.His158Asn		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H158N	ENST00000431670.2	37	c.472	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715474	0.48622	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31247	1.5;1.53;1.51;1.51;1.53;1.51	5.61	5.61	0.85477	.	0.263038	0.39274	N	0.001402	T	0.40067	0.1102	L	0.40543	1.245	0.37492	D	0.916426	P;P;D;P;B	0.58620	0.627;0.898;0.983;0.744;0.053	B;B;P;B;B	0.54590	0.142;0.359;0.756;0.271;0.013	T	0.12656	-1.0539	10	0.33141	T	0.24	.	16.9138	0.86146	0.0:1.0:0.0:0.0	.	158;158;158;158;185	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	N	185;185;158;158;158;158;158;158;158	ENSP00000377500:H185N;ENSP00000405405:H158N;ENSP00000405292:H158N;ENSP00000418296:H158N;ENSP00000377502:H158N;ENSP00000418319:H158N	ENSP00000352764:H185N	H	+	1	0	PHLDB2	113086086	0.964000	0.33143	0.995000	0.50966	0.641000	0.38312	2.657000	0.46724	2.813000	0.96785	0.655000	0.94253	CAT	PHLDB2	-	NULL	ENSG00000144824		0.527	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	-	0	46	0	C	NM_145753		111603396	1	tier1	-	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.999	A	A	111603396	C	A	111603396	3	1	7	1	0	0	0	0	1	0	0	0	11891	710	25	3	559	3	PHLDB2	3	111603396	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	58785077	111603396	86419034	57	1921											
GCET2	257144	genome.wustl.edu	37	chr3	111842603	111842603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcacagctcctctgagtagGtctggtcaacattgtcctgc	8	11	10	12	0	3	1	1	1	2	0	5	1	5	1	2	2	4	3	2	2	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:111842603G>C	ENST00000308910.4	-	6	420	c.236C>G	c.(235-237)aCc>aGc	p.T79S	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.T81S	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	79					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CTCTGAGTAGGTCTGGTCAAC	0.463																																																	0													128	104	112					3																	111842603		2203	4300	6503	SO:0001583	missense	0			BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"human germinal center-associated lymphoma"	607792	"germinal center expressed transcript 2"	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.236C>G	3.37:g.111842603G>C	ENSP00000309487:p.Thr79Ser		C9JD17|C9JUG6	Missense_Mutation	SNP	NULL	p.T79S	ENST00000308910.4	37	c.236	CCDS2964.1	3	.	.	.	.	.	.	.	.	.	.	G	4.120	0.020425	0.08006	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000460387;ENST00000488580;ENST00000487901	.	.	.	4.35	-4.29	0.03721	.	0.967147	0.08521	N	0.933477	T	0.08088	0.0202	N	0.02539	-0.55	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.30001	-0.9993	9	0.07813	T	0.8	-0.9586	2.4898	0.04607	0.174:0.4758:0.1626:0.1877	.	79	Q8N6F7	GCET2_HUMAN	S	79;81;64;62;62	.	ENSP00000309487:T79S	T	-	2	0	GCET2	113325293	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-2.700000	0.00824	-0.932000	0.03742	-0.140000	0.14226	ACC	GCSAM	-	NULL	ENSG00000174500		0.463	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GCSAM	HGNC	protein_coding	OTTHUMT00000353967.2		0	28	0	G	NM_152785		111842603	-1			no_errors	ENST00000308910	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.000	C	C	111842603	G	C	111842603	3	2	7	1	0	0	0	0	1	0	0	0	6313	1261	44	5	304	5	GCET2	3	111842603	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	239207	111842603	86179827	58	1922											
KPNA1	3836	genome.wustl.edu	37	chr3	122146408	122146408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcttcaatcaaagcaCagtaagggttaatgccagtg	14	10	9	8	0	3	0	2	0	1	0	3	0	3	0	1	1	3	4	1	1	5	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:122146408C>T	ENST00000344337.6	-	13	1582	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y	RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608015.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	469					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AATCAAAGCACAGTAAGGGTT	0.398																																					Melanoma(12;340 801 11196 19797)												0													116	110	112					3																	122146408		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1406G>A	3.37:g.122146408C>T	ENSP00000343701:p.Cys469Tyr		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.C469Y	ENST00000344337.6	37	c.1406	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068933	0.76301	.	.	ENSG00000114030	ENST00000344337	T	0.29397	1.57	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.74881	2.28	0.80722	D	1	P	0.36027	0.533	B	0.43990	0.438	T	0.47736	-0.9094	10	0.72032	D	0.01	-7.8486	18.346	0.90322	0.0:1.0:0.0:0.0	.	469	P52294	IMA1_HUMAN	Y	469	ENSP00000343701:C469Y	ENSP00000343701:C469Y	C	-	2	0	KPNA1	123629098	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.627000	0.83176	2.822000	0.97130	0.650000	0.86243	TGT	KPNA1	-	superfamily_ARM-type_fold	ENSG00000114030		0.398	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	-	0	44	0	C	NM_002264		122146408	-1	tier1	-	no_errors	ENST00000344337	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	T	T	122146408	C	T	122146408	3	4	7	1	0	0	0	0	1	0	0	0	8456	478	17	3	218	3	KPNA1	3	122146408	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	10303805	122146408	75876022	59	1923											
CCDC37	348807	genome.wustl.edu	37	chr3	126138544	126138544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaggatttcctatacaagCtgtcgcccaaggagtggctt	11	11	10	9	1	0	0	0	0	0	0	2	2	1	2	2	3	2	2	2	3	5	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:126138544C>T	ENST00000352312.1	+	9	895	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	CCDC37_ENST00000505024.1_Silent_p.L267L|CCDC37_ENST00000393425.1_Silent_p.L267L	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	266										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCTATACAAGCTGTCGCCCAA	0.488																																																	0													75	77	76					3																	126138544		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.796C>T	3.37:g.126138544C>T			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C	p.L267	ENST00000352312.1	37	c.799	CCDS3037.1	3																																																																																			CCDC37	-	NULL	ENSG00000163885		0.488	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4		0	32	0	C	NM_182628		126138544	1			no_errors	ENST00000393425	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T	T	126138544	C	T	126138544	2	4	7	1	0	0	0	0	0	0	0	1	2816	796	28	3		3	CCDC37	3	126138544	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	3992136	126138544	71883886	60	1924											
CHST13	166012	genome.wustl.edu	37	chr3	126260888	126260888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagatcaaccggcgcctgCgcgcctacttggccttcctg	5	8	11	17	5	1	1	1	0	0	1	2	2	2	1	6	2	3	0	6	2	2	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:126260888C>T	ENST00000319340.2	+	3	543	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	165					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CCGGCGCCTGCGCGCCTACTT	0.726																																																	0													8	10	9					3																	126260888		2127	4182	6309	SO:0001583	missense	0			AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"Sulfotransferases, membrane-bound"	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.493C>T	3.37:g.126260888C>T	ENSP00000317404:p.Arg165Cys		Q3SYA3|Q3SYA5	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R165C	ENST00000319340.2	37	c.493	CCDS3039.1	3	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302328	0.40694	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	T	0.74632	-0.86	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87067	0.2157	10	0.87932	D	0	-15.1307	10.4556	0.44548	0.1947:0.8053:0.0:0.0	.	165	Q8NET6	CHSTD_HUMAN	C	165	ENSP00000317404:R165C	ENSP00000317404:R165C	R	+	1	0	CHST13	127743578	1.000000	0.71417	0.967000	0.41034	0.092000	0.18411	1.767000	0.38501	2.169000	0.68431	0.491000	0.48974	CGC	CHST13	-	pfam_Sulfotransferase	ENSG00000180767		0.726	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST13	HGNC	protein_coding	OTTHUMT00000370201.2	-	0	18	0	C	NM_152889		126260888	1	tier1	-	no_errors	ENST00000319340	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.864	T	T	126260888	C	T	126260888	3	4	7	1	0	0	0	0	1	0	0	0	3408	768	27	1	503	1	CHST13	3	126260888	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	122344	126260888	71761542	61	1925											
TOPBP1	11073	genome.wustl.edu	37	chr3	133377885	133377885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggtgatcaaagacaacgCcactaaaagggtcacagata	17	6	10	8	1	2	4	2	2	0	2	2	4	2	4	1	2	1	0	1	2	5	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:133377885C>A	ENST00000260810.5	-	3	325	c.194G>T	c.(193-195)gGc>gTc	p.G65V	TOPBP1_ENST00000511439.1_5'Flank|TFP1_ENST00000460564.1_RNA	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	65					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAAGACAACGCCACTAAAAGG	0.343								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													98	87	91					3																	133377885		1567	3582	5149	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.194G>T	3.37:g.133377885C>A	ENSP00000260810:p.Gly65Val		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.G65V	ENST00000260810.5	37	c.194	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947880	0.73787	.	.	ENSG00000163781	ENST00000260810	T	0.13089	2.62	5.55	5.55	0.83447	BRCT (1);	0.158241	0.56097	D	0.000028	T	0.39835	0.1093	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.19321	-1.0309	10	0.87932	D	0	.	19.5177	0.95171	0.0:1.0:0.0:0.0	.	65	Q92547	TOPB1_HUMAN	V	65	ENSP00000260810:G65V	ENSP00000260810:G65V	G	-	2	0	TOPBP1	134860575	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	4.712000	0.61888	2.605000	0.88082	0.655000	0.94253	GGC	TOPBP1	-	superfamily_BRCT_dom	ENSG00000163781		0.343	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0	59	0	C	NM_007027		133377885	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.994	A	A	133377885	C	A	133377885	3	1	7	1	0	0	0	0	1	0	0	0	16417	739	26	3	4478	3	TOPBP1	3	133377885	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	7116997	133377885	64644545	62	1926											
SI	6476	genome.wustl.edu	37	chr3	164735779	164735779	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgcattgctgttgagtaAgaaaacaccatgagcattgc	13	11	9	8	0	0	3	0	2	0	1	0	3	0	3	1	0	5	5	1	0	3	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:164735779A>C	ENST00000264382.3	-	29	3561	c.3499T>G	c.(3499-3501)Tta>Gta	p.L1167V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1167	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CTGTTGAGTAAGAAAACACCA	0.338										HNSCC(35;0.089)																																							0													109	107	108					3																	164735779		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3499T>G	3.37:g.164735779A>C	ENSP00000264382:p.Leu1167Val		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L1167V	ENST00000264382.3	37	c.3499	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656788	0.47467	.	.	ENSG00000090402	ENST00000264382	D	0.85339	-1.97	5.17	-0.418	0.12344	Glycoside hydrolase-type carbohydrate-binding (1);	0.082067	0.50627	D	0.000116	D	0.90717	0.7087	H	0.95328	3.655	0.37697	D	0.92407	D	0.56746	0.977	P	0.52481	0.7	D	0.91224	0.5009	10	0.87932	D	0	.	9.7904	0.40702	0.6154:0.0:0.3845:0.0	.	1167	P14410	SUIS_HUMAN	V	1167	ENSP00000264382:L1167V	ENSP00000264382:L1167V	L	-	1	2	SI	166218473	0.975000	0.34042	0.840000	0.33206	0.547000	0.35210	0.774000	0.26675	0.052000	0.16007	0.402000	0.26972	TTA	SI	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000090402		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	46	0	A	NM_001041		164735779	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	45.45	42	35	SNP	0.691	C	C	164735779	A	C	164735779	3	2	7	1	0	0	0	0	1	0	0	0	14342	69	3	4	2064	4	SI	3	164735779	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	31357894	164735779	33286651	63	1927											
ABCC5	10057	genome.wustl.edu	37	chr3	183689562	183689562	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaagccctcttgtcttttTtcattttgggggtcagcttg	4	18	11	8	0	4	0	2	0	2	0	4	1	4	1	1	3	2	1	1	3	1	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:183689562T>A	ENST00000334444.6	-	11	1790	c.1550A>T	c.(1549-1551)aAa>aTa	p.K517I	ABCC5_ENST00000265586.6_Missense_Mutation_p.K517I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	517					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTTGTCTTTTTTCATTTTGGG	0.552																																																	0													71	70	70					3																	183689562		1965	4149	6114	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1550A>T	3.37:g.183689562T>A	ENSP00000333926:p.Lys517Ile		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.K517I	ENST00000334444.6	37	c.1550	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	T	17.40	3.380457	0.61845	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.92299	-2.81;-3.01	5.56	5.56	0.83823	ABC transporter, transmembrane domain, type 1 (1);	0.289673	0.39274	N	0.001401	D	0.89733	0.6800	L	0.49126	1.545	0.46927	D	0.999253	P;B	0.40050	0.7;0.04	B;B	0.38880	0.284;0.029	D	0.89193	0.3552	10	0.38643	T	0.18	-10.9957	15.7119	0.77635	0.0:0.0:0.0:1.0	.	517;517	Q86UX3;O15440	.;MRP5_HUMAN	I	517;453;517	ENSP00000333926:K517I;ENSP00000265586:K517I	ENSP00000265586:K517I	K	-	2	0	ABCC5	185172256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.837000	0.62796	2.110000	0.64415	0.533000	0.62120	AAA	ABCC5	-	superfamily_ABC1_TM_dom	ENSG00000114770		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	-	0	51	0	T	NM_005688		183689562	-1	tier1	-	no_errors	ENST00000334444	ensembl	human	known	74_37	missense	39.68	38	25	SNP	1.000	A	A	183689562	T	A	183689562	3	1	7	1	0	0	0	0	1	0	0	0	56	1841	64	5	2843	5	ABCC5	3	183689562	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	18953783	183689562	14332868	64	1928											
AP2M1	1173	genome.wustl.edu	37	chr3	183896816	183896816	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccatggtcttcgaattcctCtataagatgtgtgacgtgat	9	14	10	8	2	2	3	0	2	2	1	4	4	3	3	2	1	0	0	2	1	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:183896816C>G	ENST00000292807.5	+	3	394	c.246C>G	c.(244-246)ctC>ctG	p.L82L	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.L82L|AP2M1_ENST00000439647.1_Silent_p.L82L|AP2M1_ENST00000411763.2_Silent_p.L107L	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	82					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGAATTCCTCTATAAGATGT	0.483																																																	0													137	140	139					3																	183896816		2080	4225	6305	SO:0001819	synonymous_variant	0			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"clathrin-associated/assembly/adaptor protein, medium 1", "plasma membrane adaptor AP-2 50kDA protein", "clathrin coat adaptor protein AP50", "clathrin adaptor complex AP2, mu subunit", "HA2 50 kDA subunit", "clathrin assembly protein complex 2 medium chain", "AP-2 mu 2 chain"	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.246C>G	3.37:g.183896816C>G			A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L82	ENST00000292807.5	37	c.246	CCDS43177.1	3																																																																																			AP2M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000161203		0.483	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	-	0	38	0	C	NM_004068		183896816	1	tier1	-	no_errors	ENST00000292807	ensembl	human	known	74_37	silent	25.71	26	9	SNP	1.000	G	G	183896816	C	G	183896816	2	3	7	1	0	0	0	0	0	0	0	1	742	900	32	5		5	AP2M1	3	183896816	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	207254	183896816	14125614	65	1929											
CLDN16	10686	genome.wustl.edu	37	chr3	190105961	190105961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgtattattcttactGcaactcaagacacctgcagc	10	14	6	11	0	2	1	1	0	1	1	2	1	2	1	1	0	5	4	1	0	5	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:190105961G>T	ENST00000264734.2	+	1	301	c.53G>T	c.(52-54)tGc>tTc	p.C18F	CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Missense_Mutation_p.C18F	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	18					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TATTCTTACTGCAACTCAAGA	0.488																																																	0													46	43	44					3																	190105961		2203	4300	6503	SO:0001583	missense	0			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.53G>T	3.37:g.190105961G>T	ENSP00000264734:p.Cys18Phe			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.C18F	ENST00000264734.2	37	c.53	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.015132	0.00422	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.93488	-2.86;-3.23	5.71	-1.45	0.08828	.	2.526800	0.01288	N	0.009940	D	0.85080	0.5615	N	0.08118	0	0.09310	N	1	B;B	0.16802	0.019;0.003	B;B	0.17722	0.019;0.004	T	0.74842	-0.3527	10	0.48119	T	0.1	11.6584	5.7581	0.18184	0.5309:0.143:0.3261:0.0	.	18;18	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	F	18	ENSP00000264734:C18F;ENSP00000414136:C18F	ENSP00000264734:C18F	C	+	2	0	CLDN16	191588655	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.328000	0.19681	-0.664000	0.05324	-0.312000	0.09012	TGC	CLDN16	-	NULL	ENSG00000113946		0.488	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1		0	38	0	G	NM_006580		190105961	1			no_errors	ENST00000264734	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	T	T	190105961	G	T	190105961	3	4	7	1	0	0	0	0	1	0	0	0	3484	1319	46	3	55	3	CLDN16	3	190105961	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	6209145	190105961	7916469	66	1930											
ZDHHC19	131540	genome.wustl.edu	37	chr3	195934293	195934293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtaggtgcggtcggcCgagctcacggacagtgcctg	5	8	15	13	4	1	0	1	0	0	0	2	2	1	1	3	4	3	2	3	4	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr3:195934293C>T	ENST00000296326.3	-	5	742	c.663G>A	c.(661-663)tcG>tcA	p.S221S	ZDHHC19_ENST00000488508.1_5'Flank	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	221						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TGCGGTCGGCCGAGCTCACGG	0.701																																																	0													13	19	17					3																	195934293		2116	4190	6306	SO:0001819	synonymous_variant	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.663G>A	3.37:g.195934293C>T			A8MSY6|B3KVI1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S221	ENST00000296326.3	37	c.663	CCDS43190.1	3																																																																																			ZDHHC19	-	NULL	ENSG00000163958		0.701	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	-	0	47	0	C	NM_144637		195934293	-1	tier1	-	no_errors	ENST00000296326	ensembl	human	known	74_37	silent	10.00	54	6	SNP	0.962	T	T	195934293	C	T	195934293	2	4	7	1	0	0	0	0	0	0	0	1	17657	639	23	1		1	ZDHHC19	3	195934293	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	5828332	195934293	2088137	67	1931											
PCGF3	10336	genome.wustl.edu	37	chr4	737326	737326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgccgggagacatcaaGggggagacctgctctgcaaa	11	5	16	9	1	2	2	1	0	1	2	2	5	2	2	2	4	3	2	2	4	2	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:737326G>A	ENST00000362003.5	+	7	722	c.327G>A	c.(325-327)aaG>aaA	p.K109K	PCGF3_ENST00000521023.2_Silent_p.K75K|PCGF3_ENST00000505655.2_Silent_p.K109K|PCGF3_ENST00000470161.2_Silent_p.K109K	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						GAGACATCAAGGGGGAGACCT	0.542																																																	0													77	84	82					4																	737326		1964	4165	6129	SO:0001819	synonymous_variant	0			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	10066	protein-coding gene	gene with protein product			"ring finger protein 3"	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.327G>A	4.37:g.737326G>A			D3DVN1|O15262	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K109	ENST00000362003.5	37	c.327	CCDS3339.2	4																																																																																			PCGF3	-	NULL	ENSG00000185619		0.542	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	HGNC	protein_coding	OTTHUMT00000239197.2	-	0	39	0	G	NM_006315		737326	1	tier1	-	no_errors	ENST00000362003	ensembl	human	known	74_37	silent	85.00	6	34	SNP	1.000	A	A	737326	G	A	737326	2	1	7	1	0	0	0	0	0	0	0	1	11615	991	35	3		3	PCGF3	4	737326	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09		737326	190416950	68	1932											
SLIT2	9353	genome.wustl.edu	37	chr4	20255544	20255544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcgcagtgctcttgctcgGgcagcacagtggactgtcac	6	8	14	13	3	2	0	1	0	1	0	3	1	2	1	0	3	3	5	0	3	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:20255544G>T	ENST00000504154.1	+	1	358	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	SLIT2_ENST00000503823.1_Missense_Mutation_p.G36C|SLIT2_ENST00000273739.5_Missense_Mutation_p.G36C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G36C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	36	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCTTGCTCGGGCAGCACAGT	0.652																																																	0													90	74	79					4																	20255544		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.106G>T	4.37:g.20255544G>T	ENSP00000422591:p.Gly36Cys		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.G36C	ENST00000504154.1	37	c.106	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.106009	0.94292	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	3.85	3.85	0.44370	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	H	0.95365	3.66	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.71414	0.965;0.973	T	0.76990	-0.2754	10	0.87932	D	0	.	15.8964	0.79338	0.0:0.0:1.0:0.0	.	36;36	O94813-3;O94813	.;SLIT2_HUMAN	C	36	ENSP00000427548:G36C;ENSP00000422591:G36C;ENSP00000273739:G36C;ENSP00000422261:G36C	ENSP00000273739:G36C	G	+	1	0	SLIT2	19864642	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	8.773000	0.91762	2.130000	0.65690	0.313000	0.20887	GGC	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000145147		0.652	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	67	0	G			20255544	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	20255544	G	T	20255544	3	4	7	1	0	0	0	0	1	0	0	0	14785	1232	43	3	108	3	SLIT2	4	20255544	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	19518218	20255544	170898732	69	1933											
LGI2	55203	genome.wustl.edu	37	chr4	25028544	25028544	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccggatgatcgtgaatGagttagaattcagcaatctg	12	11	10	8	2	2	4	1	3	1	1	4	5	3	5	1	1	1	2	1	1	4	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:25028544G>T	ENST00000382114.4	-	3	472	c.287C>A	c.(286-288)tCa>tAa	p.S96*		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	96						extracellular region (GO:0005576)		p.S96L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GATCGTGAATGAGTTAGAATT	0.383																																																	1	Substitution - Missense(1)	lung(1)											111	107	108					4																	25028544		2203	4300	6503	SO:0001587	stop_gained	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.287C>A	4.37:g.25028544G>T	ENSP00000371548:p.Ser96*		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Nonsense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.S96*	ENST00000382114.4	37	c.287	CCDS3431.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	7.923988|7.923988	0.98563|0.98563	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|.	.|.	.|.	5.92|5.92	5.07|5.07	0.68467|0.68467	.|.	.|0.188987	.|0.47455	.|D	.|0.000223	T|.	0.38532|.	0.1044|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34950|.	-0.9808|.	3|.	.|0.02654	.|T	.|1	-10.4428|-10.4428	16.3485|16.3485	0.83171|0.83171	0.0:0.0:0.867:0.133|0.0:0.0:0.867:0.133	.|.	.|.	.|.	.|.	N|X	87|96	.|.	.|ENSP00000371548:S96X	H|S	-|-	1|2	0|0	LGI2|LGI2	24637642|24637642	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.993000|0.993000	0.82548|0.82548	9.226000|9.226000	0.95229|0.95229	1.469000|1.469000	0.48083|0.48083	0.655000|0.655000	0.94253|0.94253	CAT|TCA	LGI2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000153012		0.383	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1		0	19	0	G			25028544	-1			no_errors	ENST00000382114	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.997	T	T	25028544	G	T	25028544	4	4	7	1	0	0	0	0	0	1	0	0	8781	1294	45	3	1374	3	LGI2	4	25028544	Nonsense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4773000	25028544	166125732	70	1934											
CWH43	80157	genome.wustl.edu	37	chr4	48996726	48996726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgctggcaggggctgCttttggtagccttgtgttcc	2	14	15	10	0	0	0	0	0	0	0	1	0	1	0	2	5	3	7	2	5	1	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:48996726C>A	ENST00000226432.4	+	5	785	c.602C>A	c.(601-603)gCt>gAt	p.A201D	CWH43_ENST00000513409.1_Missense_Mutation_p.A174D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	201					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCAGGGGCTGCTTTTGGTAGC	0.527																																																	0													97	97	97					4																	48996726		2203	4300	6503	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.602C>A	4.37:g.48996726C>A	ENSP00000226432:p.Ala201Asp		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.A201D	ENST00000226432.4	37	c.602	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346166	0.61073	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.49720	1.36;0.77	4.71	4.71	0.59529	.	0.124891	0.35349	N	0.003273	T	0.64951	0.2645	M	0.65975	2.015	0.44899	D	0.997919	D	0.76494	0.999	D	0.66351	0.943	T	0.64618	-0.6365	9	.	.	.	.	16.3714	0.83364	0.0:1.0:0.0:0.0	.	201	Q9H720	PG2IP_HUMAN	D	201;174	ENSP00000226432:A201D;ENSP00000422802:A174D	.	A	+	2	0	CWH43	48691483	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	4.546000	0.60705	2.587000	0.87381	0.591000	0.81541	GCT	CWH43	-	NULL	ENSG00000109182		0.527	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	-	0	82	0	C	NM_025087		48996726	1	tier1	-	no_errors	ENST00000226432	ensembl	human	known	74_37	missense	80.52	15	62	SNP	1.000	A	A	48996726	C	A	48996726	3	1	7	1	0	0	0	0	1	0	0	0	4082	797	28	3	620	3	CWH43	4	48996726	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	23968182	48996726	142157550	71	1935											
LPHN3	23284	genome.wustl.edu	37	chr4	62813834	62813834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagtcagaggaaaattTcaaccctaactgttcatttt	13	13	7	8	0	3	1	3	0	0	1	3	2	3	2	1	1	3	3	1	1	5	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:62813834T>C	ENST00000514591.1	+	16	2770	c.2441T>C	c.(2440-2442)tTc>tCc	p.F814S	LPHN3_ENST00000545650.1_Missense_Mutation_p.F814S|LPHN3_ENST00000512091.2_Missense_Mutation_p.F814S|LPHN3_ENST00000508946.1_Missense_Mutation_p.F814S|LPHN3_ENST00000508693.1_Missense_Mutation_p.F882S|LPHN3_ENST00000507625.1_Missense_Mutation_p.F882S|LPHN3_ENST00000514996.1_Missense_Mutation_p.F814S|LPHN3_ENST00000509896.1_Missense_Mutation_p.F882S|LPHN3_ENST00000507164.1_Missense_Mutation_p.F882S|LPHN3_ENST00000506700.1_Missense_Mutation_p.F814S|LPHN3_ENST00000511324.1_Missense_Mutation_p.F882S|LPHN3_ENST00000514157.1_Missense_Mutation_p.F814S|LPHN3_ENST00000506720.1_Missense_Mutation_p.F882S|LPHN3_ENST00000506746.1_Missense_Mutation_p.F882S|LPHN3_ENST00000504896.1_Missense_Mutation_p.F814S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	801	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGGAAAATTTCAACCCTAAC	0.363																																																	0													68	60	63					4																	62813834		1842	4094	5936	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2441T>C	4.37:g.62813834T>C	ENSP00000422533:p.Phe814Ser		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.F882S	ENST00000514591.1	37	c.2645	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371057	0.82573	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69040	-0.33;-0.34;-0.34;-0.34;-0.33;-0.34;-0.35;-0.35;-0.35;-0.34;-0.34;-0.37;-0.37;-0.36;-0.36	5.98	5.98	0.97165	GPS domain (1);	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	M	0.82056	2.57	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.994	T	0.78620	-0.2133	10	0.16896	T	0.51	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	814;801;814	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	S	814;814;882;882;814;814;801;814;882;882;882;814;814;814;882;882;814	ENSP00000423388:F814S;ENSP00000422533:F814S;ENSP00000423787:F882S;ENSP00000425033:F882S;ENSP00000424120:F814S;ENSP00000439831:F814S;ENSP00000421476:F882S;ENSP00000424030:F882S;ENSP00000421372:F882S;ENSP00000425201:F814S;ENSP00000423434:F814S;ENSP00000421627:F814S;ENSP00000420931:F882S;ENSP00000425884:F882S;ENSP00000424258:F814S	ENSP00000280009:F814S	F	+	2	0	LPHN3	62496429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.037000	0.88933	2.307000	0.77673	0.529000	0.55759	TTC	LPHN3	-	smart_GPS_dom	ENSG00000150471		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0	35	0	T			62813834	1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	76.92	6	20	SNP	1.000	C	C	62813834	T	C	62813834	3	2	7	1	0	0	0	0	1	0	0	0	8952	1783	62	4	2495	4	LPHN3	4	62813834	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	13817108	62813834	128340442	72	1936											
C4orf37	285555	genome.wustl.edu	37	chr4	98480236	98480236	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcagcagccatttcaccAatgagatttcctttcttttt	10	17	4	10	0	3	1	2	1	1	1	4	2	4	1	3	0	2	1	3	0	2	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:98480236A>G	ENST00000295268.3	-	11	1442	c.1353T>C	c.(1351-1353)atT>atC	p.I451I	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	451																	CCATTTCACCAATGAGATTTC	0.269																																																	0													84	94	91					4																	98480236		2201	4292	6493	SO:0001819	synonymous_variant	0			BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 37"	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1353T>C	4.37:g.98480236A>G				Silent	SNP	NULL	p.I451	ENST00000295268.3	37	c.1353	CCDS3645.1	4																																																																																			STPG2	-	NULL	ENSG00000163116		0.269	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG2	HGNC	protein_coding	OTTHUMT00000253642.1	-	0	121	0	A	NM_174952		98480236	-1	tier1	-	no_errors	ENST00000295268	ensembl	human	known	74_37	silent	32.56	57	28	SNP	0.000	G	G	98480236	A	G	98480236	2	3	7	1	0	0	0	0	0	0	0	1	2274	126	5	4		4	C4orf37	4	98480236	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	35666402	98480236	92674040	73	1937											
ANK2	287	genome.wustl.edu	37	chr4	114195639	114195639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttacatattgcctcccGcctgggtaagacagaaattg	11	11	8	11	1	0	2	0	0	0	2	1	2	1	2	4	1	2	1	4	1	4	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:114195639G>A	ENST00000357077.4	+	15	1570	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	ANK2_ENST00000506722.1_Missense_Mutation_p.R485H|ANK2_ENST00000264366.6_Missense_Mutation_p.R506H|ANK2_ENST00000394537.3_Missense_Mutation_p.R506H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	506					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R506L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATTGCCTCCCGCCTGGGTAAG	0.488																																																	1	Substitution - Missense(1)	lung(1)											101	97	98					4																	114195639		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1517G>A	4.37:g.114195639G>A	ENSP00000349588:p.Arg506His		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R506H	ENST00000357077.4	37	c.1517	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.266550	0.95399	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.62	5.62	0.85841	Ankyrin repeat-containing domain (3);	0.000000	0.51477	D	0.000081	T	0.78972	0.4368	L	0.49640	1.575	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;P;D;D	0.70716	0.938;0.958;0.806;0.943;0.97	T	0.79584	-0.1743	10	0.66056	D	0.02	.	19.6591	0.95857	0.0:0.0:1.0:0.0	.	506;506;506;485;485	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	H	485;485;485;521;506;506;506;485	ENSP00000423799:R485H;ENSP00000421011:R485H;ENSP00000421067:R485H;ENSP00000424722:R521H;ENSP00000378044:R506H;ENSP00000349588:R506H;ENSP00000264366:R506H	ENSP00000264366:R506H	R	+	2	0	ANK2	114415088	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.792000	0.99085	2.631000	0.89168	0.650000	0.86243	CGC	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	32	0	G	NM_001148		114195639	1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A	A	114195639	G	A	114195639	3	1	7	1	0	0	0	0	1	0	0	0	621	1087	38	1	1600	1	ANK2	4	114195639	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	15715403	114195639	76958637	74	1938											
MAML3	55534	genome.wustl.edu	37	chr4	140811438	140811438	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggagacagtagaaaaGggaggaccagaagaagaagg	17	2	17	5	1	0	5	0	0	0	5	0	8	0	7	2	4	0	1	2	4	6	1	rs375901234		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:140811438G>T	ENST00000509479.2	-	2	2008	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	MAML3_ENST00000327122.5_Silent_p.P228P|MAML3_ENST00000398940.1_5'Flank	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGTAGAAAAGGGAGGACCAG	0.587																																																	0													102	103	103					4																	140811438		2037	4201	6238	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1152C>A	4.37:g.140811438G>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.P384	ENST00000509479.2	37	c.1152	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.587	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	-	0	30	0	G			140811438	-1	tier1	-	no_errors	ENST00000509479	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.997	T	T	140811438	G	T	140811438	2	4	7	1	0	0	0	0	0	0	0	1	9245	987	35	3		3	MAML3	4	140811438	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	26615799	140811438	50342838	75	1939											
GALNT7	51809	genome.wustl.edu	37	chr4	174216555	174216555	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcttaacagaacacttaAaagaaaaactggatgaatat	19	12	5	5	0	1	3	0	1	1	2	1	4	1	4	0	1	3	0	0	1	8	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr4:174216555A>C	ENST00000265000.4	+	4	846	c.763A>C	c.(763-765)Aaa>Caa	p.K255Q	GALNT7_ENST00000502407.1_3'UTR|GALNT7_ENST00000512285.1_Missense_Mutation_p.K255Q	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	255	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AGAACACTTAAAAGAAAAACT	0.318																																																	0													68	77	74					4																	174216555		2201	4299	6500	SO:0001583	missense	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.763A>C	4.37:g.174216555A>C	ENSP00000265000:p.Lys255Gln		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K255Q	ENST00000265000.4	37	c.763	CCDS3815.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.45|15.45	2.836316|2.836316	0.50951|0.50951	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000;ENST00000512285;ENST00000458613|ENST00000505308	T;T|.	0.60171|.	0.21;0.21|.	5.76|5.76	5.76|5.76	0.90799|0.90799	Glycosyl transferase, family 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62684|.	0.2448|.	L|L	0.52364|0.52364	1.645|1.645	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.31227|.	0.314;0.079|.	B;B|.	0.37387|.	0.248;0.068|.	T|.	0.60791|.	-0.7193|.	10|.	0.49607|.	T|.	0.09|.	.|.	13.1051|13.1051	0.59244|0.59244	0.8667:0.1333:0.0:0.0|0.8667:0.1333:0.0:0.0	.|.	32;255|.	B4DIB4;Q86SF2|.	.;GALT7_HUMAN|.	Q|Y	255;255;32|51	ENSP00000265000:K255Q;ENSP00000427050:K255Q|.	ENSP00000265000:K255Q|.	K|X	+|+	1|3	0|2	GALNT7|GALNT7	174453130|174453130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	6.483000|6.483000	0.73617|0.73617	2.201000|2.201000	0.70794|0.70794	0.533000|0.533000	0.62120|0.62120	AAA|TAA	GALNT7	-	pfam_Glyco_trans_2	ENSG00000109586		0.318	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	-	0	72	0	A	NM_017423		174216555	1	tier1	-	no_errors	ENST00000265000	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	C	C	174216555	A	C	174216555	3	2	7	1	0	0	0	0	1	0	0	0	6243	15	1	4	777	4	GALNT7	4	174216555	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	33405117	174216555	16937721	76	1940											
IL7R	3575	genome.wustl.edu	37	chr5	35876525	35876525	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggtcagcccattcttacTtccctgggatcaaatcaaga	11	10	8	12	0	4	1	3	0	1	1	5	2	5	2	2	2	2	0	2	2	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:35876525T>G	ENST00000303115.3	+	8	1446	c.1317T>G	c.(1315-1317)acT>acG	p.T439T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	439					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCATTCTTACTTCCCTGGGAT	0.483			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													53	48	50					5																	35876525		2203	4300	6503	SO:0001819	synonymous_variant	0			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1317T>G	5.37:g.35876525T>G			B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.T439	ENST00000303115.3	37	c.1317	CCDS3911.1	5																																																																																			IL7R	-	NULL	ENSG00000168685		0.483	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2	-	0	52	0	T			35876525	1	tier1	-	no_errors	ENST00000303115	ensembl	human	known	74_37	silent	21.19	119	32	SNP	0.005	G	G	35876525	T	G	35876525	2	3	7	1	0	0	0	0	0	0	0	1	7732	1596	56	4		4	IL7R	5	35876525	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09		35876525	145038735	77	1941											
NIPBL	25836	genome.wustl.edu	37	chr5	37020917	37020917	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgatgatgcttgcttgAttgttcgatacttggcctcc	7	16	9	9	1	0	3	0	3	0	0	2	4	1	3	2	1	3	3	2	1	2	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:37020917A>T	ENST00000282516.8	+	27	5765	c.5266A>T	c.(5266-5268)Att>Ttt	p.I1756F	NIPBL_ENST00000448238.2_Missense_Mutation_p.I1756F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1756					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCTTGCTTGATTGTTCGATA	0.343																																																	0													232	225	228					5																	37020917		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5266A>T	5.37:g.37020917A>T	ENSP00000282516:p.Ile1756Phe		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I1756F	ENST00000282516.8	37	c.5266	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801689	0.90538	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.66995	-0.24;-0.24	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.74674	0.952;0.984	D	0.84921	0.0854	10	0.72032	D	0.01	.	16.0724	0.80943	1.0:0.0:0.0:0.0	.	1756;1756	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	F	1756	ENSP00000282516:I1756F;ENSP00000406266:I1756F	ENSP00000282516:I1756F	I	+	1	0	NIPBL	37056674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.869000	0.69613	2.189000	0.69895	0.528000	0.53228	ATT	NIPBL	-	superfamily_ARM-type_fold	ENSG00000164190		0.343	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	50	0	A	NM_015384		37020917	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	9.41	77	8	SNP	1.000	T	T	37020917	A	T	37020917	3	4	7	1	0	0	0	0	1	0	0	0	10467	333	12	5	5368	5	NIPBL	5	37020917	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	1144392	37020917	143894343	78	1942											
WDR70	55100	genome.wustl.edu	37	chr5	37381711	37381711	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcatgttttaggtaaaaaAgctcgcacatttgacttgga	12	14	9	6	1	1	1	1	1	0	0	2	2	1	2	0	2	1	5	0	2	4	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:37381711A>T	ENST00000265107.4	+	3	255	c.99A>T	c.(97-99)aaA>aaT	p.K33N	WDR70_ENST00000504564.1_Missense_Mutation_p.K33N	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	33							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGTAAAAAAGCTCGCACAT	0.383																																																	0													112	120	117					5																	37381711		2203	4300	6503	SO:0001583	missense	0			BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"WD repeat domain containing"	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.99A>T	5.37:g.37381711A>T	ENSP00000265107:p.Lys33Asn		Q9H053	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K33N	ENST00000265107.4	37	c.99	CCDS34147.1	5	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539645	0.65085	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.89681	-0.58;-2.55	3.78	2.6	0.31112	.	0.000000	0.85682	U	0.000000	D	0.92140	0.7508	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90215	0.4267	10	0.87932	D	0	-0.5527	6.7171	0.23310	0.7052:0.0:0.2948:0.0	.	33;33	D6RIW8;Q9NW82	.;WDR70_HUMAN	N	33	ENSP00000265107:K33N;ENSP00000425841:K33N	ENSP00000265107:K33N	K	+	3	2	WDR70	37417468	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.020000	0.41010	0.462000	0.27095	0.455000	0.32223	AAA	WDR70	-	NULL	ENSG00000082068		0.383	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR70	HGNC	protein_coding	OTTHUMT00000368294.1	-	0	90	0	A	NM_018034		37381711	1	tier1	-	no_errors	ENST00000265107	ensembl	human	known	74_37	missense	9.48	191	20	SNP	1.000	T	T	37381711	A	T	37381711	3	4	7	1	0	0	0	0	1	0	0	0	17370	69	3	5	109	5	WDR70	5	37381711	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	360794	37381711	143533549	79	1943											
PRKAA1	5562	genome.wustl.edu	37	chr5	40767767	40767767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaccccactgctccataTatctacctctgggcctgcat	10	11	5	15	0	2	0	0	0	2	0	3	0	3	0	5	1	4	2	5	1	5	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:40767767T>C	ENST00000397128.2	-	6	630	c.622A>G	c.(622-624)Ata>Gta	p.I208V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.I223V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			I -> L (in Ref. 6; AAA64850). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CTGCTCCATATATCTACCTCT	0.353																																																	0													88	82	84					5																	40767767		1856	4098	5954	SO:0001583	missense	0				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.622A>G	5.37:g.40767767T>C	ENSP00000380317:p.Ile208Val		A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I223V	ENST00000397128.2	37	c.667	CCDS3932.2	5	.	.	.	.	.	.	.	.	.	.	T	11.94	1.787906	0.31593	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	T;T	0.22539	1.95;1.95	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	N	0.11313	0.125	0.80722	D	1	P;P	0.41546	0.649;0.754	B;P	0.44623	0.365;0.455	T	0.03957	-1.0989	10	0.02654	T	1	-20.6861	15.9962	0.80250	0.0:0.0:0.0:1.0	.	208;223	Q13131;Q13131-2	AAPK1_HUMAN;.	V	208;223	ENSP00000380317:I208V;ENSP00000346148:I223V	ENSP00000346148:I223V	I	-	1	0	AC008810.1	40803524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.180000	0.69256	0.459000	0.35465	ATA	PRKAA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000132356		0.353	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	-	0	40	0	T	NM_006251		40767767	-1	tier1	-	no_errors	ENST00000354209	ensembl	human	known	74_37	missense	12.37	85	12	SNP	1.000	C	C	40767767	T	C	40767767	3	2	7	1	0	0	0	0	1	0	0	0	12535	1406	49	4	1073	4	PRKAA1	5	40767767	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	3386056	40767767	140147493	80	1944											
ITGA2	3673	genome.wustl.edu	37	chr5	52385789	52385789	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccagattcccctgatgaTaatgaaacctgatgagaaag	14	11	8	8	0	0	6	0	5	0	2	2	7	2	6	4	0	1	0	4	0	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:52385789T>G	ENST00000296585.5	+	29	3505	c.3362T>G	c.(3361-3363)aTa>aGa	p.I1121R	CTD-2366F13.2_ENST00000606157.1_RNA	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1121					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CCCCTGATGATAATGAAACCT	0.383																																																	0													137	149	145					5																	52385789		2203	4300	6503	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3362T>G	5.37:g.52385789T>G	ENSP00000296585:p.Ile1121Arg		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.I1121R	ENST00000296585.5	37	c.3362	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	T	15.42	2.828105	0.50845	.	.	ENSG00000164171	ENST00000296585	T	0.50001	0.76	5.77	5.77	0.91146	.	0.101125	0.64402	D	0.000005	T	0.60676	0.2287	L	0.58354	1.805	0.80722	D	1	D	0.55800	0.973	P	0.57468	0.821	T	0.61681	-0.7013	10	0.52906	T	0.07	.	15.3627	0.74492	0.0:0.0:0.0:1.0	.	1121	P17301	ITA2_HUMAN	R	1121	ENSP00000296585:I1121R	ENSP00000296585:I1121R	I	+	2	0	ITGA2	52421546	1.000000	0.71417	0.557000	0.28306	0.174000	0.22865	5.749000	0.68704	2.330000	0.79161	0.528000	0.53228	ATA	ITGA2	-	NULL	ENSG00000164171		0.383	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	-	0	89	0	T	NM_002203		52385789	1	tier1	-	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	9.25	157	16	SNP	0.984	G	G	52385789	T	G	52385789	3	3	7	1	0	0	0	0	1	0	0	0	7902	1406	49	4	3476	4	ITGA2	5	52385789	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	11618022	52385789	128529471	81	1945											
SIL1	64374	genome.wustl.edu	37	chr5	138286898	138286898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagagcagtgtgaccacgcGcacggcgagcacctccgtgc	8	5	14	14	5	0	2	0	1	0	1	1	3	1	2	3	1	3	4	3	1	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:138286898G>A	ENST00000394817.2	-	9	1130	c.991C>T	c.(991-993)Cgc>Tgc	p.R331C	SIL1_ENST00000265195.5_Missense_Mutation_p.R331C|SIL1_ENST00000509534.1_Missense_Mutation_p.R338C|SIL1_ENST00000515008.1_5'UTR	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	331					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTGACCACGCGCACGGCGAGC	0.642									Marinesco-Sjgren syndrome																																								0													46	39	41					5																	138286898		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"Marinesco-Sjogren syndrome", "SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.991C>T	5.37:g.138286898G>A	ENSP00000378294:p.Arg331Cys		D3DQC2|Q8N2L3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R331C	ENST00000394817.2	37	c.991	CCDS4209.1	5	.	.	.	.	.	.	.	.	.	.	G	15.58	2.877119	0.51801	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000509534	T;T;T	0.52295	0.67;0.67;0.67	6.08	5.2	0.72013	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69124	0.3076	M	0.73598	2.24	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.992	T	0.73959	-0.3818	10	0.87932	D	0	-9.8156	16.172	0.81825	0.0:0.1336:0.8664:0.0	.	338;331	D6REA1;Q9H173	.;SIL1_HUMAN	C	331;331;338	ENSP00000378294:R331C;ENSP00000265195:R331C;ENSP00000426858:R338C	ENSP00000265195:R331C	R	-	1	0	SIL1	138314797	1.000000	0.71417	0.988000	0.46212	0.003000	0.03518	6.637000	0.74304	1.567000	0.49668	-0.176000	0.13171	CGC	SIL1	-	superfamily_ARM-type_fold	ENSG00000120725		0.642	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIL1	HGNC	protein_coding	OTTHUMT00000251319.1		0	83	0	G	NM_022464		138286898	-1			no_errors	ENST00000265195	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A	A	138286898	G	A	138286898	3	1	7	1	0	0	0	0	1	0	0	0	14366	1087	38	1	402	1	SIL1	5	138286898	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	85901109	138286898	42628362	82	1946											
PCDHA10	56139	genome.wustl.edu	37	chr5	140236574	140236574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgaggacagtaacaCttatgaaattcatgtagatg	14	13	9	5	0	1	4	1	3	0	1	1	5	1	5	0	1	1	2	0	1	4	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:140236574C>G	ENST00000307360.5	+	1	941	c.941C>G	c.(940-942)aCt>aGt	p.T314S	PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.T314S|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGTAACACTTATGAAATT	0.398																																																	0													111	106	107					5																	140236574		2196	4271	6467	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.941C>G	5.37:g.140236574C>G	ENSP00000304234:p.Thr314Ser		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T314S	ENST00000307360.5	37	c.941	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	0.795	-0.757554	0.03019	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.49432	4.7;0.78	4.29	-1.55	0.08558	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.14399	0.0348	N	0.02129	-0.67	0.09310	N	1	B;B;B	0.13145	0.007;0.005;0.003	B;B;B	0.14578	0.011;0.006;0.008	T	0.25641	-1.0126	9	0.08599	T	0.76	.	2.0732	0.03618	0.155:0.4107:0.1105:0.3237	.	314;314;314	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	314	ENSP00000421030:T314S;ENSP00000304234:T314S	ENSP00000304234:T314S	T	+	2	0	PCDHA10	140216758	0.000000	0.05858	0.466000	0.27168	0.990000	0.78478	-4.000000	0.00316	-0.183000	0.10585	0.561000	0.74099	ACT	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.398	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	40	0	C	NM_018901		140236574	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.000	G	G	140236574	C	G	140236574	3	3	7	1	0	0	0	0	1	0	0	0	11559	565	20	5	943	5	PCDHA10	5	140236574	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1949676	140236574	40678686	83	1947											
NDST1	3340	genome.wustl.edu	37	chr5	149900889	149900889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccttttcctgctgttcAtcttctgcctgttcagcgtt	2	19	7	13	1	4	0	2	0	2	0	6	0	6	0	3	0	3	4	3	0	0	6	rs145198292	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr5:149900889A>T	ENST00000261797.6	+	2	575	c.73A>T	c.(73-75)Atc>Ttc	p.I25F	NDST1_ENST00000523767.1_Missense_Mutation_p.I25F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	25				FIFCL -> QVVCQ (in Ref. 4; AAH12888). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGCTGTTCATCTTCTGCCT	0.642																																																	0													135	118	124					5																	149900889		2203	4300	6503	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.73A>T	5.37:g.149900889A>T	ENSP00000261797:p.Ile25Phe		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.I25F	ENST00000261797.6	37	c.73	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	A	8.606	0.887966	0.17540	.	.	ENSG00000070614	ENST00000522491;ENST00000519157;ENST00000523767;ENST00000261797	T;T;T	0.44881	0.91;0.93;1.25	5.22	-9.95	0.00446	.	1.293400	0.04900	N	0.451247	T	0.20981	0.0505	L	0.29908	0.895	0.09310	N	1	B;B;B	0.30973	0.052;0.302;0.052	B;B;B	0.28784	0.094;0.055;0.063	T	0.05517	-1.0880	10	0.20519	T	0.43	.	3.4464	0.07482	0.4327:0.1717:0.3078:0.0878	.	25;25;25	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	F	25	ENSP00000427813:I25F;ENSP00000428604:I25F;ENSP00000261797:I25F	ENSP00000261797:I25F	I	+	1	0	NDST1	149881082	0.002000	0.14202	0.004000	0.12327	0.297000	0.27493	-0.277000	0.08502	-2.842000	0.00334	-3.172000	0.00057	ATC	NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.642	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0	49	0	A	NM_001543		149900889	1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	90.91	6	60	SNP	0.001	T	T	149900889	A	T	149900889	3	4	7	1	0	0	0	0	1	0	0	0	10294	217	8	5	75	5	NDST1	5	149900889	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	9664315	149900889	31014371	84	1948											
WRNIP1	56897	genome.wustl.edu	37	chr6	2779582	2779582	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgggttgaacggactgCagctggcggtgctggctagg	6	8	19	8	2	0	1	0	1	0	0	0	3	0	2	0	6	5	6	0	6	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:2779582C>T	ENST00000380773.4	+	4	1551	c.1342C>T	c.(1342-1344)Cag>Tag	p.Q448*	WRNIP1_ENST00000380771.4_Nonsense_Mutation_p.Q423*|WRNIP1_ENST00000380764.1_Nonsense_Mutation_p.Q64*|WRNIP1_ENST00000380769.4_Nonsense_Mutation_p.Q228*	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GAACGGACTGCAGCTGGCGGT	0.522																																																	0													107	98	101					6																	2779582		2203	4300	6503	SO:0001587	stop_gained	0			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"ATPases / AAA-type"	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1342C>T	6.37:g.2779582C>T	ENSP00000370150:p.Gln448*			Nonsense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.Q448*	ENST00000380773.4	37	c.1342	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	C	41	8.660151	0.98903	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	.	.	.	5.7	5.7	0.88788	.	0.053362	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.4402	18.8243	0.92111	0.0:1.0:0.0:0.0	.	.	.	.	X	448;423;228;64	.	ENSP00000370141:Q64X	Q	+	1	0	WRNIP1	2724581	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.439000	0.80444	2.684000	0.91462	0.585000	0.79938	CAG	WRNIP1	-	superfamily_P-loop_NTPase	ENSG00000124535		0.522	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	-	0	72	0	C	NM_130395		2779582	1	tier1	-	no_errors	ENST00000380773	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	T	T	2779582	C	T	2779582	4	4	7	1	0	0	0	0	0	1	0	0	17452	711	25	3	1356	3	WRNIP1	6	2779582	Nonsense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09		2779582	168335485	85	1949											
SERPINB9	5272	genome.wustl.edu	37	chr6	2890433	2890433	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccacagaacagaatgctGttggctctgttgtgcctgat	8	12	11	10	0	1	3	0	1	1	2	1	3	1	3	2	1	4	4	2	1	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:2890433G>C	ENST00000380698.4	-	7	1184	c.1095C>G	c.(1093-1095)aaC>aaG	p.N365K		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	365					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				ACAGAATGCTGTTGGCTCTGT	0.542																																																	0													70	63	65					6																	2890433		2203	4300	6503	SO:0001583	missense	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.1095C>G	6.37:g.2890433G>C	ENSP00000370074:p.Asn365Lys		B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.N365K	ENST00000380698.4	37	c.1095	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	G	3.848	-0.032414	0.07543	.	.	ENSG00000170542	ENST00000380698	D	0.82803	-1.65	4.66	1.6	0.23607	Serpin domain (3);	0.755929	0.13670	N	0.370928	T	0.53850	0.1822	L	0.35288	1.05	0.09310	N	1	B	0.11235	0.004	B	0.23150	0.044	T	0.45745	-0.9240	10	0.24483	T	0.36	.	7.1947	0.25845	0.0849:0.0:0.5382:0.3769	.	365	P50453	SPB9_HUMAN	K	365	ENSP00000370074:N365K	ENSP00000370074:N365K	N	-	3	2	SERPINB9	2835432	0.000000	0.05858	0.170000	0.22879	0.774000	0.43823	-0.204000	0.09425	0.616000	0.30141	-0.137000	0.14449	AAC	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000170542		0.542	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	-	0	35	0	G			2890433	-1	tier1	-	no_errors	ENST00000380698	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.094	C	C	2890433	G	C	2890433	3	2	7	1	0	0	0	0	1	0	0	0	14153	1368	48	5	39	5	SERPINB9	6	2890433	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	110851	2890433	168224634	86	1950											
PRL	5617	genome.wustl.edu	37	chr6	22290493	22290493	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatagcctccggggcttcTtgcataccacgtacttccgt	7	11	10	13	3	1	0	0	0	1	0	3	1	3	1	4	3	4	3	4	3	3	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:22290493T>C	ENST00000306482.1	-	4	920	c.402A>G	c.(400-402)caA>caG	p.Q134Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	134					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CCGGGGCTTCTTGCATACCAC	0.502																																																	0													111	103	106					6																	22290493		2203	4300	6503	SO:0001819	synonymous_variant	0			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.402A>G	6.37:g.22290493T>C			Q15199|Q92996	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.Q134	ENST00000306482.1	37	c.402	CCDS4548.1	6																																																																																			PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000172179		0.502	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	-	0	17	0	T	NM_000948		22290493	-1	tier1	-	no_errors	ENST00000306482	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.017	C	C	22290493	T	C	22290493	2	2	7	1	0	0	0	0	0	0	0	1	12570	1606	56	4		4	PRL	6	22290493	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	19400060	22290493	148824574	87	1951											
RING1	6015	genome.wustl.edu	37	chr6	33177715	33177715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagtgtcctacctgccGaaagaagctggtgtccaagc	11	7	12	11	1	0	1	0	0	0	1	2	3	2	2	4	2	4	1	4	2	5	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:33177715G>T	ENST00000374656.4	+	4	471	c.263G>T	c.(262-264)cGa>cTa	p.R88L	MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	88	Necessary for transcriptional repression. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCTACCTGCCGAAAGAAGCTG	0.552																																																	0													59	53	55					6																	33177715		2203	4300	6503	SO:0001583	missense	0				CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"RING-type (C3HC4) zinc fingers"	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.263G>T	6.37:g.33177715G>T	ENSP00000363787:p.Arg88Leu		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R88L	ENST00000374656.4	37	c.263	CCDS34424.1	6	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668164	0.67814	.	.	ENSG00000204227	ENST00000374656	T	0.76186	-1.0	4.01	3.12	0.35913	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.000000	0.64402	D	0.000003	T	0.79470	0.4451	M	0.79258	2.445	0.46499	D	0.999073	D	0.76494	0.999	D	0.68192	0.956	T	0.81803	-0.0765	10	0.87932	D	0	-38.5207	10.5303	0.44973	0.0:0.0:0.8049:0.1951	.	88	Q06587	RING1_HUMAN	L	88	ENSP00000363787:R88L	ENSP00000363787:R88L	R	+	2	0	RING1	33285693	1.000000	0.71417	0.953000	0.39169	0.936000	0.57629	9.189000	0.94928	0.857000	0.35407	0.542000	0.68232	CGA	RING1	-	pfscan_Znf_RING	ENSG00000204227		0.552	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RING1	HGNC	protein_coding	OTTHUMT00000076609.2		0	45	0	G			33177715	1			no_errors	ENST00000374656	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.989	T	T	33177715	G	T	33177715	3	4	7	1	0	0	0	0	1	0	0	0	13419	1058	37	2	273	2	RING1	6	33177715	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	10887222	33177715	137937352	88	1952											
BAK1	578	genome.wustl.edu	37	chr6	33541885	33541885	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgaagcgggtcacctGgcctaggaagccagtcaggc	10	4	14	13	2	2	0	2	0	0	0	2	3	2	1	4	4	2	0	4	4	3	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:33541885G>A	ENST00000374467.3	-	5	705	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	BAK1_ENST00000360661.5_Nonsense_Mutation_p.Q153*|BAK1_ENST00000442998.2_3'UTR	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	153					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell negative selection (GO:0002352)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast apoptotic process (GO:0044346)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|limb morphogenesis (GO:0035108)|mitochondrial fusion (GO:0008053)|myeloid cell homeostasis (GO:0002262)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of gene expression (GO:0010629)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic camera-type eye morphogenesis (GO:0048597)|regulation of cell cycle (GO:0051726)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to fungus (GO:0009620)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to mycotoxin (GO:0010046)|response to organic cyclic compound (GO:0014070)|response to UV-C (GO:0010225)|thymocyte apoptotic process (GO:0070242)|vagina development (GO:0060068)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|pore complex (GO:0046930)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CGGGTCACCTGGCCTAGGAAG	0.597																																																	0													64	58	60					6																	33541885		2203	4300	6503	SO:0001587	stop_gained	0			U23765	CCDS4781.1	6p21.31	2014-03-07			ENSG00000030110	ENSG00000030110			949	protein-coding gene	gene with protein product		600516		CDN1		7715730, 7715731	Standard	NM_001188		Approved	BCL2L7, BAK	uc003oes.3	Q16611	OTTHUMG00000014530	ENST00000374467.3:c.457C>T	6.37:g.33541885G>A	ENSP00000363591:p.Gln153*		C0H5Y7|Q6I9T6|Q92533	Nonsense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.Q153*	ENST00000374467.3	37	c.457	CCDS4781.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.319443	0.97471	.	.	ENSG00000030110	ENST00000374460;ENST00000374467;ENST00000360661	.	.	.	4.64	2.78	0.32641	.	0.272322	0.25912	N	0.027487	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-2.6624	8.1733	0.31268	0.0:0.1547:0.5264:0.319	.	.	.	.	X	133;153;153	.	ENSP00000353878:Q153X	Q	-	1	0	BAK1	33649863	0.984000	0.35163	0.997000	0.53966	0.973000	0.67179	0.798000	0.27014	0.541000	0.28827	0.585000	0.79938	CAG	BAK1	-	pfam_Blc2_fam,pfscan_Bcl2-like	ENSG00000030110		0.597	BAK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BAK1	HGNC	protein_coding	OTTHUMT00000040202.1	-	0	35	0	G	NM_001188		33541885	-1	tier1	-	no_errors	ENST00000360661	ensembl	human	known	74_37	nonsense	54.55	20	24	SNP	0.936	A	A	33541885	G	A	33541885	4	1	7	1	0	0	0	0	0	1	0	0	1306	1357	47	3	186	3	BAK1	6	33541885	Nonsense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	364170	33541885	137573182	89	1953											
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34835247	34835247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatctcctttgataggtctCagttctggtcctgaaggtga	8	14	11	8	0	3	3	1	3	3	0	6	4	4	3	2	3	0	1	2	3	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:34835247C>T	ENST00000192788.5	+	17	3743	c.3572C>T	c.(3571-3573)tCa>tTa	p.S1191L	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S1191L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1191							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGATAGGTCTCAGTTCTGGTC	0.522																																																	0													191	191	191					6																	34835247		2006	4186	6192	SO:0001583	missense	0			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3572C>T	6.37:g.34835247C>T	ENSP00000192788:p.Ser1191Leu		Q9NXE0	Missense_Mutation	SNP	NULL	p.S1191L	ENST00000192788.5	37	c.3572	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457448	0.43634	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.16743	2.32;2.33	5.42	4.53	0.55603	.	0.074778	0.56097	D	0.000030	T	0.08179	0.0204	L	0.41492	1.28	0.48395	D	0.999645	B	0.25390	0.125	B	0.20184	0.028	T	0.04191	-1.0970	10	0.62326	D	0.03	-10.8775	13.3785	0.60754	0.0:0.9229:0.0:0.0771	.	1191	Q6BDS2	URFB1_HUMAN	L	1191	ENSP00000192788:S1191L;ENSP00000400628:S1191L	ENSP00000192788:S1191L	S	+	2	0	UHRF1BP1	34943225	1.000000	0.71417	0.968000	0.41197	0.163000	0.22366	4.432000	0.59922	2.695000	0.91970	0.655000	0.94253	TCA	UHRF1BP1	-	NULL	ENSG00000065060		0.522	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	-	0	63	0	C	NM_017754		34835247	1	tier1	-	no_errors	ENST00000192788	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.999	T	T	34835247	C	T	34835247	3	4	7	1	0	0	0	0	1	0	0	0	17017	838	29	3	3638	3	UHRF1BP1	6	34835247	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1293362	34835247	136279820	90	1954											
CUL9	23113	genome.wustl.edu	37	chr6	43164484	43164484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaagagctgagagacaCgttgtttaggcactcaggga	13	7	12	9	1	1	3	1	1	0	2	1	5	1	4	1	2	2	4	1	2	3	3	rs142672693	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:43164484C>T	ENST00000252050.4	+	11	2771	c.2687C>T	c.(2686-2688)aCg>aTg	p.T896M	CUL9_ENST00000372647.2_Missense_Mutation_p.T896M|CUL9_ENST00000354495.3_Missense_Mutation_p.T786M	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	896					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGAGAGACACGTTGTTTAGG	0.517																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	200	169	180		2687	4.7	1	6	dbSNP_134	180	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUL9	NM_015089.2	81	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	896/2518	43164484	2,13004	2203	4300	6503	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2687C>T	6.37:g.43164484C>T	ENSP00000252050:p.Thr896Met		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.T896M	ENST00000252050.4	37	c.2687	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658335	0.67586	2.27E-4	1.16E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73363	-0.74;-0.74;-0.63	5.61	4.69	0.59074	Armadillo-type fold (1);	0.319960	0.31834	N	0.006994	T	0.60534	0.2276	N	0.22421	0.69	0.33542	D	0.594961	D;D;D	0.71674	0.998;0.99;0.99	P;P;P	0.55615	0.78;0.469;0.469	T	0.61983	-0.6950	10	0.33940	T	0.23	-24.433	10.9826	0.47504	0.186:0.814:0.0:0.0	.	786;896;896	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	M	896;786;896	ENSP00000252050:T896M;ENSP00000346490:T786M;ENSP00000361730:T896M	ENSP00000252050:T896M	T	+	2	0	CUL9	43272462	0.996000	0.38824	1.000000	0.80357	0.929000	0.56500	2.175000	0.42491	2.656000	0.90262	0.655000	0.94253	ACG	CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0	45	0	C	NM_015089		43164484	1			no_errors	ENST00000252050	ensembl	human	known	74_37	missense	5.13	36	2	SNP	1.000	T	T	43164484	C	T	43164484	3	4	7	1	0	0	0	0	1	0	0	0	4070	536	19	1	2725	1	CUL9	6	43164484	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	8329237	43164484	127950583	91	1955											
C6orf138	442213	genome.wustl.edu	37	chr6	47846773	47846773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacaagcgagaagcaatgaTattgctttcatcccctgcct	12	11	7	11	1	1	2	1	1	0	1	2	3	2	2	3	0	5	2	3	0	5	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:47846773T>C	ENST00000339488.4	-	3	1840	c.1807A>G	c.(1807-1809)Atc>Gtc	p.I603V		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	603						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GAAGCAATGATATTGCTTTCA	0.433																																																	0													86	86	86					6																	47846773		2203	4300	6503	SO:0001583	missense	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.1807A>G	6.37:g.47846773T>C	ENSP00000341914:p.Ile603Val		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.I603V	ENST00000339488.4	37	c.1807	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986146	0.35036	.	.	ENSG00000244694	ENST00000339488	D	0.85339	-1.97	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	L	0.39245	1.2	0.80722	D	1	P	0.46142	0.873	D	0.63113	0.911	T	0.82172	-0.0589	10	0.19147	T	0.46	.	16.35	0.83199	0.0:0.0:0.0:1.0	.	603	Q6ZW05	CF138_HUMAN	V	603	ENSP00000341914:I603V	ENSP00000341914:I603V	I	-	1	0	C6orf138	47954732	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.971000	0.70440	2.270000	0.75569	0.528000	0.53228	ATC	PTCHD4	-	pfam_Patched	ENSG00000244694		0.433	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	-	0	40	0	T	NM_001013732		47846773	-1	tier1	-	no_errors	ENST00000339488	ensembl	human	known	74_37	missense	20.69	22	6	SNP	1.000	C	C	47846773	T	C	47846773	3	2	7	1	0	0	0	0	1	0	0	0	2339	1406	49	4	737	4	C6orf138	6	47846773	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	4682289	47846773	123268294	92	1956											
BMP5	653	genome.wustl.edu	37	chr6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagtggcagccacatgagcGtactaccatatttctatatt	11	14	7	9	1	1	1	0	1	1	0	1	1	1	1	2	1	4	2	2	1	6	8			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:55620351G>A	ENST00000370830.3	-	7	2043	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	BMP5_ENST00000446683.2_Missense_Mutation_p.R412C	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	449					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328																																																	0													55	58	57					6																	55620351		2203	4299	6502	SO:0001583	missense	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1345C>T	6.37:g.55620351G>A	ENSP00000359866:p.Arg449Cys		B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R449C	ENST00000370830.3	37	c.1345	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408449	0.62399	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.89415	-2.51;-2.51	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	D	0.93716	0.7028	10	0.87932	D	0	.	15.0392	0.71774	0.0:0.0:0.8579:0.1421	.	412;449	B4E0Y4;P22003	.;BMP5_HUMAN	C	449;412	ENSP00000359866:R449C;ENSP00000391818:R412C	ENSP00000359866:R449C	R	-	1	0	BMP5	55728310	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	5.038000	0.64177	2.854000	0.98071	0.655000	0.94253	CGC	BMP5	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000112175		0.328	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	-	0	73	0	G			55620351	-1	tier1	-	no_errors	ENST00000370830	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.993	A	A	55620351	G	A	55620351	3	1	7	1	0	0	0	0	1	0	0	0	1465	1145	40	1	23	1	BMP5	6	55620351	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	7773578	55620351	115494716	93	1957											
PRIM2	5558	genome.wustl.edu	37	chr6	57244771	57244771	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtttaagtggacttaagTtggggttcgagtccatttat	10	15	11	5	1	0	0	0	0	0	0	2	2	1	1	1	3	0	3	1	3	4	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:57244771T>C	ENST00000607273.1	+	6	619	c.532T>C	c.(532-534)Ttg>Ctg	p.L178L	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	178					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TGGACTTAAGTTGGGGTTCGA	0.318																																																	0													50	53	52					6																	57244771		1910	4117	6027	SO:0001819	synonymous_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.532T>C	6.37:g.57244771T>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	pfam_DNA_primase_lsu_euk/arc	p.L178	ENST00000607273.1	37	c.532		6																																																																																			PRIM2	-	NULL	ENSG00000146143		0.318	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		-	0	131	0	T	NM_000947		57244771	1	tier1	-	no_errors	ENST00000607273	ensembl	human	known	74_37	silent	11.21	103	13	SNP	0.000	C	C	57244771	T	C	57244771	2	2	7	1	0	0	0	0	0	0	0	1	12533	1722	60	4		4	PRIM2	6	57244771	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	1624420	57244771	113870296	94	1958											
BAI3	577	genome.wustl.edu	37	chr6	69759213	69759213	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgcagtcctatacaaaaacTtagatctaattttgcccact	13	12	5	11	1	1	1	0	0	1	1	2	1	2	1	2	0	3	1	2	0	6	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:69759213T>G	ENST00000370598.1	+	15	3129	c.2308T>G	c.(2308-2310)Tta>Gta	p.L770V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	770					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATACAAAAACTTAGATCTAAT	0.279																																																	0													69	70	70					6																	69759213		2202	4298	6500	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2308T>G	6.37:g.69759213T>G	ENSP00000359630:p.Leu770Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L770V	ENST00000370598.1	37	c.2308	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352674	0.61293	.	.	ENSG00000135298	ENST00000370598	T	0.21361	2.01	5.28	4.1	0.47936	Domain of unknown function DUF3497 (1);	0.000000	0.64402	D	0.000005	T	0.28001	0.0690	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.02263	-1.1186	10	0.66056	D	0.02	.	11.664	0.51363	0.0:0.0729:0.0:0.9271	.	770	O60242	BAI3_HUMAN	V	770	ENSP00000359630:L770V	ENSP00000359630:L770V	L	+	1	2	BAI3	69815934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.076000	0.50081	2.111000	0.64477	0.533000	0.62120	TTA	BAI3	-	pfam_DUF3497	ENSG00000135298		0.279	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0	51	0	T			69759213	1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	G	G	69759213	T	G	69759213	3	3	7	1	0	0	0	0	1	0	0	0	1301	1606	56	4	2358	4	BAI3	6	69759213	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	12514442	69759213	101355854	95	1959											
HTR1E	3354	genome.wustl.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	6	13	7	15	3	2	2	0	2	2	0	5	3	3	3	5	1	1	1	5	1	1	3	rs200719637		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											108	94	99					6																	87725488		2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.V146I	ENST00000305344.5	37	c.436	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168830		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0	27	0	G	NM_000865		87725488	1	tier1	rs200719637	no_errors	ENST00000305344	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.996	A	A	87725488	G	A	87725488	3	1	7	1	0	0	0	0	1	0	0	0	7466	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	17966275	87725488	83389579	96	1960											
CNR1	1268	genome.wustl.edu	37	chr6	88854515	88854515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggaggtctgccaccGccaggctgccgatgaagtgg	7	6	14	14	2	1	1	0	1	1	0	2	3	2	2	6	4	2	1	6	4	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:88854515G>A	ENST00000537554.1	-	2	4041	c.479C>T	c.(478-480)gCg>gTg	p.A160V	CNR1_ENST00000369499.2_Missense_Mutation_p.A160V|CNR1_ENST00000535130.1_Missense_Mutation_p.A160V|CNR1_ENST00000369501.2_Missense_Mutation_p.A160V|CNR1_ENST00000468898.1_Missense_Mutation_p.A127V|CNR1_ENST00000549890.1_Missense_Mutation_p.A160V|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.A160V|CNR1_ENST00000549716.1_Missense_Mutation_p.A99V	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	160					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GTCTGCCACCGCCAGGCTGCC	0.577																																																	0													30	32	31					6																	88854515		2203	4300	6503	SO:0001583	missense	0			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.479C>T	6.37:g.88854515G>A	ENSP00000441046:p.Ala160Val		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.A160V	ENST00000537554.1	37	c.479	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606305	0.87157	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.83639	0.0149	10	0.87932	D	0	.	20.0015	0.97412	0.0:0.0:1.0:0.0	.	127;160	P21554-3;P21554	.;CNR1_HUMAN	V	160;160;160;160;160;127;160;99	ENSP00000358513:A160V;ENSP00000442689:A160V;ENSP00000441046:A160V;ENSP00000358511:A160V;ENSP00000446819:A160V;ENSP00000420188:A127V;ENSP00000412192:A160V;ENSP00000449549:A99V	ENSP00000358511:A160V	A	-	2	0	CNR1	88911234	1.000000	0.71417	0.965000	0.40720	0.954000	0.61252	9.869000	0.99810	2.732000	0.93576	0.563000	0.77884	GCG	CNR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000118432		0.577	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	-	0	26	0	G			88854515	-1	tier1	-	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	A	A	88854515	G	A	88854515	3	1	7	1	0	0	0	0	1	0	0	0	3638	1087	38	1	943	1	CNR1	6	88854515	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	1129027	88854515	82260552	97	1961											
PRDM13	59336	genome.wustl.edu	37	chr6	100056626	100056626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgttgcaggtgcgcatgGtgagaggggagctggtggac	6	10	20	5	1	0	1	0	1	0	1	0	4	0	3	0	6	3	4	0	6	0	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:100056626G>T	ENST00000369215.4	+	2	459	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	52	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GGTGCGCATGGTGAGAGGGGA	0.592																																																	0													35	41	39					6																	100056626		2000	4162	6162	SO:0001583	missense	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.154G>T	6.37:g.100056626G>T	ENSP00000358217:p.Val52Leu		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.V52L	ENST00000369215.4	37	c.154	CCDS43487.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.107892	0.94292	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.06933	3.27;3.24	5.1	5.1	0.69264	SET domain (2);	0.000000	0.31071	U	0.008308	T	0.14527	0.0351	L	0.37630	1.12	0.50171	D	0.999854	D	0.76494	0.999	D	0.76071	0.987	T	0.02933	-1.1092	10	0.87932	D	0	-28.0774	18.1797	0.89773	0.0:0.0:1.0:0.0	.	52	Q9H4Q3	PRD13_HUMAN	L	52;62	ENSP00000358217:V52L;ENSP00000358216:V62L	ENSP00000358216:V62L	V	+	1	0	PRDM13	100163347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.269000	0.58890	2.393000	0.81446	0.558000	0.71614	GTG	PRDM13	-	pfscan_SET_dom	ENSG00000112238		0.592	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	-	0	88	0	G			100056626	1	tier1	-	no_errors	ENST00000369215	ensembl	human	known	74_37	missense	7.21	103	8	SNP	1.000	T	T	100056626	G	T	100056626	3	4	7	1	0	0	0	0	1	0	0	0	12496	1261	44	3	160	3	PRDM13	6	100056626	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	11202111	100056626	71058441	98	1962											
C6orf170	221322	genome.wustl.edu	37	chr6	121577239	121577239	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatacttacctttttccaTgcctttgctatagattcatg	11	17	4	9	0	1	1	1	0	0	1	2	1	2	1	3	0	4	1	3	0	6	8			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:121577239T>A	ENST00000398212.2	-	16	1975	c.1926A>T	c.(1924-1926)gcA>gcT	p.A642A	TBC1D32_ENST00000275159.6_Silent_p.A642A	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	642					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.A642A(1)									CCTTTTTCCATGCCTTTGCTA	0.313																																																	1	Substitution - coding silent(1)	lung(1)											85	77	80					6																	121577239		1814	4081	5895	SO:0001819	synonymous_variant	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1926A>T	6.37:g.121577239T>A			Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	superfamily_Rab-GTPase-TBC_dom	p.A642	ENST00000398212.2	37	c.1926	CCDS43501.1	6																																																																																			TBC1D32	-	NULL	ENSG00000146350		0.313	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2		0	35	0	T	NM_152730		121577239	-1			no_errors	ENST00000275159	ensembl	human	putative	74_37	silent	5.26	54	3	SNP	0.659	A	A	121577239	T	A	121577239	2	1	7	1	0	0	0	0	0	0	0	1	2351	1451	51	5		5	C6orf170	6	121577239	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	21520613	121577239	49537828	99	1963											
PTPRK	5796	genome.wustl.edu	37	chr6	128643411	128643411	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcagctgaagtctggcttTttctccagggtcgtgatctg	6	13	13	9	1	3	2	0	2	3	0	5	2	3	2	1	3	1	3	1	3	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:128643411T>G	ENST00000368215.3	-	3	267	c.268A>C	c.(268-270)Aaa>Caa	p.K90Q	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Missense_Mutation_p.K90Q|PTPRK_ENST00000368213.5_Missense_Mutation_p.K90Q|PTPRK_ENST00000368227.3_Missense_Mutation_p.K90Q|PTPRK_ENST00000532331.1_Missense_Mutation_p.K90Q|PTPRK_ENST00000368210.3_Missense_Mutation_p.K90Q|PTPRK_ENST00000368207.3_Missense_Mutation_p.K90Q|PTPRK_ENST00000525459.1_Missense_Mutation_p.K90Q			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	90	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGTCTGGCTTTTTCTCCAGGG	0.388																																																	0													135	131	132					6																	128643411		2203	4300	6503	SO:0001583	missense	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.268A>C	6.37:g.128643411T>G	ENSP00000357198:p.Lys90Gln		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.K90Q	ENST00000368215.3	37	c.268		6	.	.	.	.	.	.	.	.	.	.	T	15.28	2.785295	0.49997	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	T;T;T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37;4.37;4.37	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.062748	0.64402	D	0.000010	T	0.04861	0.0131	L	0.56199	1.76	0.26460	N	0.975469	P;B;B;D;P;B	0.71674	0.922;0.086;0.214;0.998;0.458;0.403	P;B;B;D;B;B	0.69824	0.627;0.201;0.127;0.966;0.188;0.118	T	0.25082	-1.0142	10	0.48119	T	0.1	.	15.8056	0.78506	0.0:0.0:0.0:1.0	.	90;90;90;90;90;90	B4DHC3;B7ZMG0;Q15262-3;E9PRW2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	Q	90	ENSP00000357209:K90Q;ENSP00000357210:K90Q;ENSP00000432973:K90Q;ENSP00000357196:K90Q;ENSP00000357193:K90Q;ENSP00000357198:K90Q;ENSP00000357190:K90Q;ENSP00000434116:K90Q	ENSP00000357190:K90Q	K	-	1	0	PTPRK	128685104	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.279000	0.51670	2.323000	0.78572	0.528000	0.53228	AAA	PTPRK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000152894		0.388	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0	32	0	T			128643411	-1	tier1	-	no_errors	ENST00000368227	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	G	G	128643411	T	G	128643411	3	3	7	1	0	0	0	0	1	0	0	0	12850	1850	64	4	4188	4	PTPRK	6	128643411	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	7066172	128643411	42471656	100	1964											
HECA	51696	genome.wustl.edu	37	chr6	139487871	139487871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagccacgacctcccccGccggcattccatggaccggc	7	4	9	21	4	0	0	0	0	0	0	2	2	2	1	8	3	1	1	8	3	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:139487871G>T	ENST00000367658.2	+	2	1007	c.722G>T	c.(721-723)cGc>cTc	p.R241L	RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	241					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GACCTCCCCCGCCGGCATTCC	0.677																																																	0													12	15	14					6																	139487871		2171	4264	6435	SO:0001583	missense	0			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.722G>T	6.37:g.139487871G>T	ENSP00000356630:p.Arg241Leu			Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.R241L	ENST00000367658.2	37	c.722	CCDS5194.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986564	0.74589	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	4.24	0.50183	.	0.110587	0.64402	N	0.000006	T	0.35335	0.0928	L	0.27053	0.805	0.80722	D	1	B	0.21147	0.052	B	0.19148	0.024	T	0.36456	-0.9747	9	0.59425	D	0.04	.	14.8645	0.70404	0.0:0.0:0.8554:0.1446	.	241	Q9UBI9	HDC_HUMAN	L	241	.	ENSP00000356630:R241L	R	+	2	0	HECA	139529564	1.000000	0.71417	0.206000	0.23566	0.857000	0.48899	9.136000	0.94489	1.335000	0.45486	0.655000	0.94253	CGC	HECA	-	NULL	ENSG00000112406		0.677	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1		0	36	0	G	NM_016217		139487871	1			no_errors	ENST00000367658	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.997	T	T	139487871	G	T	139487871	3	4	7	1	0	0	0	0	1	0	0	0	7065	1087	38	2	728	2	HECA	6	139487871	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	10844460	139487871	31627196	101	1965											
SYNE1	23345	genome.wustl.edu	37	chr6	152631081	152631081	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaaccacatcctcggggatCcggagggcactctggcagag	9	5	14	13	2	1	1	0	0	1	1	4	3	3	3	3	5	1	3	3	5	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:152631081C>A	ENST00000367255.5	-	90	17692	c.17091G>T	c.(17089-17091)cgG>cgT	p.R5697R	SYNE1_ENST00000356820.4_Silent_p.R221R|SYNE1_ENST00000341594.5_Silent_p.R5309R|SYNE1_ENST00000265368.4_Silent_p.R5697R|SYNE1_ENST00000423061.1_Silent_p.R5626R|SYNE1_ENST00000448038.1_Silent_p.R5626R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5697					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCGGGGATCCGGAGGGCAC	0.547										HNSCC(10;0.0054)																																							0													54	50	51					6																	152631081		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17091G>T	6.37:g.152631081C>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R5697	ENST00000367255.5	37	c.17091	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	39	0	C	NM_182961		152631081	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	60.00	24	36	SNP	0.998	A	A	152631081	C	A	152631081	2	1	7	1	0	0	0	0	0	0	0	1	15492	842	30	3		3	SYNE1	6	152631081	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	13143210	152631081	18483986	102	1966											
SYNE1	23345	genome.wustl.edu	37	chr6	152738095	152738095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacccaactttgctaagTgaccctgcagactctgcaat	12	9	8	12	0	1	3	0	1	1	2	1	4	1	3	2	0	5	3	2	0	4	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:152738095T>C	ENST00000367255.5	-	41	6078	c.5477A>G	c.(5476-5478)cAc>cGc	p.H1826R	SYNE1_ENST00000341594.5_Missense_Mutation_p.H1863R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H1826R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H1833R|SYNE1_ENST00000448038.1_Missense_Mutation_p.H1833R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1826					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGCTAAGTGACCCTGCAG	0.537										HNSCC(10;0.0054)																																							0													111	112	112					6																	152738095		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5477A>G	6.37:g.152738095T>C	ENSP00000356224:p.His1826Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H1826R	ENST00000367255.5	37	c.5477	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	11.53	1.664758	0.29604	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	6.16	5.0	0.66597	.	0.088552	0.49305	D	0.000142	T	0.12092	0.0294	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.27559	0.016;0.03;0.03;0.181	B;B;B;B	0.27380	0.005;0.007;0.007;0.079	T	0.05937	-1.0855	10	0.15499	T	0.54	.	8.5381	0.33375	0.1168:0.0639:0.0:0.8194	.	1809;1826;1826;1833	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	1826;1833;1826;1833;1863	ENSP00000356224:H1826R;ENSP00000396024:H1833R;ENSP00000265368:H1826R;ENSP00000390975:H1833R;ENSP00000341887:H1863R	ENSP00000265368:H1826R	H	-	2	0	SYNE1	152779788	1.000000	0.71417	0.851000	0.33527	0.816000	0.46133	3.123000	0.50453	1.149000	0.42402	0.528000	0.53228	CAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	30	0	T	NM_182961		152738095	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	C	C	152738095	T	C	152738095	3	2	7	1	0	0	0	0	1	0	0	0	15492	1696	59	4	21413	4	SYNE1	6	152738095	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	107014	152738095	18376972	103	1967											
NOX3	50508	genome.wustl.edu	37	chr6	155749958	155749958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggctcctggagggccTgtccctctgccccaaaggcc	5	7	12	17	0	1	0	0	0	1	0	4	1	4	1	7	4	1	1	7	4	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:155749958T>C	ENST00000159060.2	-	9	1217	c.1115A>G	c.(1114-1116)cAg>cGg	p.Q372R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	372	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTGGAGGGCCTGTCCCTCTGC	0.527																																																	0													51	55	54					6																	155749958		2203	4300	6503	SO:0001583	missense	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1115A>G	6.37:g.155749958T>C	ENSP00000159060:p.Gln372Arg		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.Q372R	ENST00000159060.2	37	c.1115	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425278	0.25639	.	.	ENSG00000074771	ENST00000159060	D	0.95554	-3.74	5.67	-4.67	0.03319	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.995434	0.08139	N	0.991942	T	0.81692	0.4876	L	0.49640	1.575	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.68823	-0.5307	10	0.20046	T	0.44	0.524	1.7801	0.03030	0.2023:0.1282:0.372:0.2975	.	372	Q9HBY0	NOX3_HUMAN	R	372	ENSP00000159060:Q372R	ENSP00000159060:Q372R	Q	-	2	0	NOX3	155791650	0.000000	0.05858	0.004000	0.12327	0.071000	0.16799	-0.831000	0.04405	-0.202000	0.10268	-0.380000	0.06706	CAG	NOX3	-	pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000074771		0.527	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1		0	77	0	T			155749958	-1			no_errors	ENST00000159060	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.000	C	C	155749958	T	C	155749958	3	2	7	1	0	0	0	0	1	0	0	0	10596	1580	55	4	611	4	NOX3	6	155749958	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	3011863	155749958	15365109	104	1968											
C6orf118	168090	genome.wustl.edu	37	chr6	165713939	165713939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagacgtgcagtctgttgaActgctgggggctgcacgtgc	8	9	15	9	2	1	2	0	1	1	1	1	2	1	2	0	2	5	5	0	2	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:165713939A>G	ENST00000230301.8	-	3	810	c.790T>C	c.(790-792)Ttc>Ctc	p.F264L	C6orf118_ENST00000543069.1_Missense_Mutation_p.F160L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	264										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGTCTGTTGAACTGCTGGGGG	0.413																																																	0													129	150	143					6																	165713939		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.790T>C	6.37:g.165713939A>G	ENSP00000230301:p.Phe264Leu		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.F264L	ENST00000230301.8	37	c.790	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	A	1.926	-0.447047	0.04572	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13196	2.61;2.61	5.13	-3.4	0.04853	.	0.947894	0.08760	N	0.897916	T	0.02888	0.0086	L	0.34521	1.04	0.09310	N	1	B	0.15141	0.012	B	0.18561	0.022	T	0.46247	-0.9205	10	0.19147	T	0.46	.	11.1098	0.48226	0.5139:0.0:0.4861:0.0	.	264	Q5T5N4	CF118_HUMAN	L	264;160	ENSP00000230301:F264L;ENSP00000439288:F160L	ENSP00000230301:F264L	F	-	1	0	C6orf118	165633929	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.246000	0.18160	-0.585000	0.05905	-0.912000	0.02778	TTC	C6orf118	-	NULL	ENSG00000112539		0.413	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	45	0	A	NM_144980		165713939	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.000	G	G	165713939	A	G	165713939	3	3	7	1	0	0	0	0	1	0	0	0	2330	43	2	4	647	4	C6orf118	6	165713939	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	9963981	165713939	5401128	105	1969											
UNC93A	54346	genome.wustl.edu	37	chr6	167721356	167721356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttcgtattctctggcCtgtggggcgtggcagatgcc	3	14	14	10	2	2	1	0	0	2	1	4	1	2	1	2	4	1	3	2	4	1	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr6:167721356C>A	ENST00000230256.3	+	7	1241	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	UNC93A_ENST00000366829.2_Missense_Mutation_p.L314M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATTCTCTGGCCTGTGGGGCGT	0.632																																																	0													120	88	99					6																	167721356		2203	4300	6503	SO:0001583	missense	0			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"unc93 (C.elegans) homolog A"			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1066C>A	6.37:g.167721356C>A	ENSP00000230256:p.Leu356Met		B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.L356M	ENST00000230256.3	37	c.1066	CCDS5300.1	6	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970326	0.34754	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;D	0.84442	1.17;-1.85	4.56	4.56	0.56223	Major facilitator superfamily domain, general substrate transporter (1);	0.072136	0.56097	D	0.000025	D	0.82440	0.5037	M	0.78801	2.425	0.58432	D	0.999998	P;P	0.44260	0.638;0.83	B;P	0.45681	0.23;0.49	D	0.84171	0.0434	10	0.48119	T	0.1	-20.4559	11.2058	0.48769	0.1836:0.8164:0.0:0.0	.	314;356	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	M	356;314	ENSP00000230256:L356M;ENSP00000355794:L314M	ENSP00000230256:L356M	L	+	1	2	UNC93A	167641346	1.000000	0.71417	0.847000	0.33407	0.020000	0.10135	2.185000	0.42584	2.081000	0.62600	0.563000	0.77884	CTG	UNC93A	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000112494		0.632	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2		0	33	0	C	NM_018974		167721356	1			no_errors	ENST00000230256	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	A	A	167721356	C	A	167721356	3	1	7	1	0	0	0	0	1	0	0	0	17045	680	24	3	1092	3	UNC93A	6	167721356	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	2007417	167721356	3393711	106	1970											
LFNG	3955	genome.wustl.edu	37	chr7	2552880	2552880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggacggacagatggaCagatggatggatggatggat	13	7	18	3	1	0	2	0	0	0	2	0	10	0	10	0	8	0	0	0	8	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:2552880C>T	ENST00000402506.1	+	2	263	c.137C>T	c.(136-138)aCa>aTa	p.T46I		NM_001166355.1	NP_001159827.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	0					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gacagatggacagatggatgg	0.562																																																	0													133	125	127					7																	2552880		1568	3582	5150	SO:0001583	missense	0			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000402506.1:c.137C>T	7.37:g.2552880C>T	ENSP00000385764:p.Thr46Ile		B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Missense_Mutation	SNP	pfam_Fringe-like	p.T46I	ENST00000402506.1	37	c.137	CCDS55081.1	7	.	.	.	.	.	.	.	.	.	.	C	7.077	0.569507	0.13560	.	.	ENSG00000106003	ENST00000402506	T	0.73258	-0.73	2.36	1.47	0.22746	.	.	.	.	.	T	0.49047	0.1534	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.46133	-0.9213	7	0.87932	D	0	.	4.9157	0.13844	0.0:0.8209:0.0:0.1791	.	.	.	.	I	46	ENSP00000385764:T46I	ENSP00000385764:T46I	T	+	2	0	LFNG	2519406	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.432000	0.06956	0.564000	0.29238	0.491000	0.48974	ACA	LFNG	-	NULL	ENSG00000106003		0.562	LFNG-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325023.1		0	35	0	C	NM_002304		2552880	1			no_errors	ENST00000402506	ensembl	human	putative	74_37	missense	6.67	70	5	SNP	0.003	T	T	2552880	C	T	2552880	3	4	7	1	0	0	0	0	1	0	0	0	8765	478	17	3	143	3	LFNG	7	2552880	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09		2552880	156585783	107	1971											
SDK1	221935	genome.wustl.edu	37	chr7	4169634	4169634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctggcaggcctgcgcaAgttcgtgctctacgagctcc	5	9	12	15	3	1	0	0	0	1	0	3	1	2	0	3	2	5	6	3	2	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:4169634A>G	ENST00000404826.2	+	27	4173	c.4034A>G	c.(4033-4035)aAg>aGg	p.K1345R	SDK1_ENST00000389531.3_Missense_Mutation_p.K1345R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1345	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCTGCGCAAGTTCGTGCTC	0.657																																																	0													56	53	54					7																	4169634		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4034A>G	7.37:g.4169634A>G	ENSP00000385899:p.Lys1345Arg		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K1345R	ENST00000404826.2	37	c.4034	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	A	34	5.323113	0.95708	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57273	0.41;0.41	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.81802	2.56	0.58432	D	0.999997	P;D	0.89917	0.927;1.0	P;D	0.87578	0.767;0.998	T	0.77213	-0.2670	10	0.56958	D	0.05	.	16.0225	0.80509	1.0:0.0:0.0:0.0	.	1345;1345	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	R	1345	ENSP00000385899:K1345R;ENSP00000374182:K1345R	ENSP00000374182:K1345R	K	+	2	0	SDK1	4136160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.553000	0.90686	2.198000	0.70561	0.533000	0.62120	AAG	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	39	0	A	NM_152744		4169634	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	44.12	37	30	SNP	1.000	G	G	4169634	A	G	4169634	3	3	7	1	0	0	0	0	1	0	0	0	14013	72	3	4	4140	4	SDK1	7	4169634	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	1616754	4169634	154969029	108	1972											
BBS9	27241	genome.wustl.edu	37	chr7	33644812	33644812	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttttttccagaagttTcacccctccaaggagtctcg	7	15	6	13	1	3	1	1	0	2	1	7	2	5	2	4	1	0	1	4	1	2	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:33644812T>G	ENST00000242067.6	+	23	3159	c.2638T>G	c.(2638-2640)Tca>Gca	p.S880A	BBS9_ENST00000354265.4_Missense_Mutation_p.S845A|BBS9_ENST00000396127.2_Missense_Mutation_p.S845A|BBS9_ENST00000355070.2_Missense_Mutation_p.S875A|BBS9_ENST00000350941.3_Missense_Mutation_p.S840A	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	880					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCCAGAAGTTTCACCCCTCCA	0.438									Bardet-Biedl syndrome																																								0													92	97	95					7																	33644812		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.2638T>G	7.37:g.33644812T>G	ENSP00000242067:p.Ser880Ala		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.S880A	ENST00000242067.6	37	c.2638	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199756	0.38905	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132	T;T;T;T;T	0.56103	0.49;0.48;0.48;0.49;0.48	5.06	-2.22	0.06952	.	0.667620	0.12449	N	0.467917	T	0.28101	0.0693	N	0.22421	0.69	0.09310	N	0.999998	B;B;B;B	0.15930	0.004;0.015;0.004;0.015	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.25606	-1.0127	10	0.09084	T	0.74	-0.1014	5.4678	0.16652	0.0:0.1989:0.4827:0.3184	.	840;875;845;880	Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;PTHB1_HUMAN	A	880;840;845;875;845;880	ENSP00000242067:S880A;ENSP00000313122:S840A;ENSP00000379433:S845A;ENSP00000347182:S875A;ENSP00000346214:S845A	ENSP00000242067:S880A	S	+	1	0	BBS9	33611337	0.012000	0.17670	0.219000	0.23793	0.932000	0.56968	-0.300000	0.08243	-0.119000	0.11830	0.459000	0.35465	TCA	BBS9	-	NULL	ENSG00000122507		0.438	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	-	0	70	0	T			33644812	1	tier1	-	no_errors	ENST00000242067	ensembl	human	known	74_37	missense	38.46	56	35	SNP	0.114	G	G	33644812	T	G	33644812	3	3	7	1	0	0	0	0	1	0	0	0	1343	1783	62	4	2724	4	BBS9	7	33644812	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	29475178	33644812	125493851	109	1973											
CDK13	8621	genome.wustl.edu	37	chr7	40027266	40027266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctcgtagcaggcacaGattgtctagatccagaagtc	13	9	10	9	1	2	4	0	0	2	4	5	4	3	4	1	1	1	3	1	1	4	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:40027266G>T	ENST00000181839.4	+	2	1885	c.1280G>T	c.(1279-1281)aGa>aTa	p.R427I	CDK13_ENST00000340829.5_Missense_Mutation_p.R427I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	427					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGCAGGCACAGATTGTCTAGA	0.413																																																	0													87	83	84					7																	40027266		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1280G>T	7.37:g.40027266G>T	ENSP00000181839:p.Arg427Ile		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R427I	ENST00000181839.4	37	c.1280	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015323	0.75161	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.75367	-0.93;-0.93	5.95	5.95	0.96441	.	.	.	.	.	T	0.81336	0.4801	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.77848	-0.2435	8	.	.	.	-18.2455	20.3789	0.98926	0.0:0.0:1.0:0.0	.	427;427	Q14004-2;Q14004	.;CDK13_HUMAN	I	427	ENSP00000181839:R427I;ENSP00000340557:R427I	.	R	+	2	0	CDK13	39993791	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.552000	0.90682	2.826000	0.97356	0.563000	0.77884	AGA	CDK13	-	NULL	ENSG00000065883		0.413	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	-	0	42	0	G	NM_003718		40027266	1	tier1	-	no_errors	ENST00000181839	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	40027266	G	T	40027266	3	4	7	1	0	0	0	0	1	0	0	0	3136	942	33	3	1286	3	CDK13	7	40027266	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	6382454	40027266	119111397	110	1974											
C7orf69	80099	genome.wustl.edu	37	chr7	47859191	47859191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaataactgctggtttcacaAatgaggaggcagaaaattcc	16	9	9	7	0	1	2	1	1	0	1	2	3	2	3	1	3	2	3	1	3	5	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:47859191A>G	ENST00000258776.4	+	3	410	c.365A>G	c.(364-366)aAa>aGa	p.K122R	C7orf69_ENST00000418326.2_Missense_Mutation_p.K103R|PKD1L1_ENST00000289672.2_Intron	NM_025031.2	NP_079307.2	Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69	122						extracellular region (GO:0005576)				lung(2)	2						TGGTTTCACAAATGAGGAGGC	0.423																																																	0													75	71	72					7																	47859191		1873	4112	5985	SO:0001583	missense	0			BC113681	CCDS43581.1	7p12	2011-12-09			ENSG00000136275	ENSG00000136275			21911	protein-coding gene	gene with protein product							Standard	NM_025031		Approved	FLJ21075	uc003tnz.4	Q9H7B7	OTTHUMG00000155648	ENST00000258776.4:c.365A>G	7.37:g.47859191A>G	ENSP00000258776:p.Lys122Arg		A4D2F1|Q14CN7|Q75MJ5	Missense_Mutation	SNP	NULL	p.K103R	ENST00000258776.4	37	c.308	CCDS43581.1	7	.	.	.	.	.	.	.	.	.	.	A	10.02	1.236202	0.22626	.	.	ENSG00000136275	ENST00000258776;ENST00000418326	T	0.53206	0.63	4.2	1.74	0.24563	.	.	.	.	.	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	P	0.46142	0.873	B	0.40410	0.328	T	0.11372	-1.0590	9	0.87932	D	0	.	3.0174	0.06064	0.6706:0.0:0.1165:0.2129	.	122	Q9H7B7	CG069_HUMAN	R	122;103	ENSP00000258776:K122R	ENSP00000258776:K122R	K	+	2	0	C7orf69	47825716	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.491000	0.06474	0.169000	0.19679	0.533000	0.62120	AAA	C7orf69	-	NULL	ENSG00000136275		0.423	C7orf69-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	C7orf69	HGNC	protein_coding	OTTHUMT00000340973.1		0	43	0	A	NM_025031		47859191	1			no_errors	ENST00000418326	ensembl	human	putative	74_37	missense	5.00	38	2	SNP	0.001	G	G	47859191	A	G	47859191	3	3	7	1	0	0	0	0	1	0	0	0	2421	14	1	4	375	4	C7orf69	7	47859191	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	7831925	47859191	111279472	111	1975											
EGFR	1956	genome.wustl.edu	37	chr7	55229240	55229240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcccccgagggctgctGgggcccggagcccagggact	4	5	17	15	2	0	0	0	0	0	0	1	3	1	2	4	5	3	3	4	5	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:55229240G>T	ENST00000275493.2	+	13	1724	c.1547G>T	c.(1546-1548)tGg>tTg	p.W516L	EGFR_ENST00000454757.2_Missense_Mutation_p.W463L|EGFR_ENST00000442591.1_Missense_Mutation_p.W516L|EGFR_ENST00000344576.2_Missense_Mutation_p.W516L|EGFR_ENST00000342916.3_Missense_Mutation_p.W516L|EGFR_ENST00000455089.1_Missense_Mutation_p.W471L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	516					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GAGGGCTGCTGGGGCCCGGAG	0.637		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													93	96	95					7																	55229240		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1547G>T	7.37:g.55229240G>T	ENSP00000275493:p.Trp516Leu		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.W516L	ENST00000275493.2	37	c.1547	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.343720	0.95807	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	6.07	6.07	0.98685	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.963;0.95;1.0;1.0	T	0.81967	-0.0690	10	0.87932	D	0	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	471;516;516;516	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	L	471;516;386;516;516;516;463;310	ENSP00000415559:W471L;ENSP00000342376:W516L;ENSP00000345973:W516L;ENSP00000275493:W516L;ENSP00000410031:W516L;ENSP00000395243:W463L	ENSP00000275493:W516L	W	+	2	0	EGFR	55196734	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.745000	0.98856	2.884000	0.98904	0.655000	0.94253	TGG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000146648		0.637	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2		0	47	0	G	NM_005228		55229240	1			no_errors	ENST00000275493	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	55229240	G	T	55229240	3	4	7	1	0	0	0	0	1	0	0	0	4981	1357	47	3	1608	3	EGFR	7	55229240	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	7370049	55229240	103909423	112	1976											
PCLO	27445	genome.wustl.edu	37	chr7	82586186	82586186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggaagaatatcccgtgtcGctcagaccttgggggctttt	7	12	12	10	3	1	2	1	0	0	2	4	3	2	3	2	3	0	2	2	3	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:82586186G>T	ENST00000333891.9	-	5	4420	c.4083C>A	c.(4081-4083)agC>agA	p.S1361R	PCLO_ENST00000423517.2_Missense_Mutation_p.S1361R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCCCGTGTCGCTCAGACCTT	0.423																																																	0													53	51	52					7																	82586186		1860	4090	5950	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4083C>A	7.37:g.82586186G>T	ENSP00000334319:p.Ser1361Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S1361R	ENST00000333891.9	37	c.4083	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393999	0.25205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.32023	1.47;1.49	5.67	0.236	0.15471	.	.	.	.	.	T	0.50000	0.1590	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.47824	-0.9087	9	0.87932	D	0	.	9.3935	0.38388	0.7414:0.0:0.2586:0.0	.	1361;1361	Q9Y6V0-5;Q9Y6V0-6	.;.	R	1292;1361;1361	ENSP00000334319:S1361R;ENSP00000388393:S1361R	ENSP00000334319:S1361R	S	-	3	2	PCLO	82424122	1.000000	0.71417	0.995000	0.50966	0.959000	0.62525	2.696000	0.47052	-0.131000	0.11578	-1.105000	0.02106	AGC	PCLO	-	NULL	ENSG00000186472		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0	55	0	G	NM_014510		82586186	-1			no_errors	ENST00000333891	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	82586186	G	T	82586186	3	4	7	1	0	0	0	0	1	0	0	0	11622	1078	38	2	11446	2	PCLO	7	82586186	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	27356946	82586186	76552477	113	1977											
ABCB1	5243	genome.wustl.edu	37	chr7	87160797	87160797	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattctgggtaattacagcaAgcctggaacctatagcctgc	11	11	9	10	0	1	0	0	0	1	0	1	1	1	1	3	2	6	2	3	2	7	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:87160797A>G	ENST00000265724.3	-	22	2915	c.2498T>C	c.(2497-2499)cTt>cCt	p.L833P	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.L769P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	833	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AATTACAGCAAGCCTGGAACC	0.343																																																	0													74	74	74					7																	87160797		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2498T>C	7.37:g.87160797A>G	ENSP00000265724:p.Leu833Pro		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L833P	ENST00000265724.3	37	c.2498	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187004	0.78789	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91237	-2.81;-2.81	5.43	5.43	0.79202	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.067650	0.64402	D	0.000010	D	0.96778	0.8948	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97988	1.0353	10	0.87932	D	0	-20.2678	15.7648	0.78117	1.0:0.0:0.0:0.0	.	769;833	B5AK60;P08183	.;MDR1_HUMAN	P	614;833;769	ENSP00000265724:L833P;ENSP00000444095:L769P	ENSP00000265724:L833P	L	-	2	0	ABCB1	86998733	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.268000	0.89876	2.187000	0.69744	0.402000	0.26972	CTT	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.343	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	-	0	51	0	A	NM_000927		87160797	-1	tier1	-	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	G	G	87160797	A	G	87160797	3	3	7	1	0	0	0	0	1	0	0	0	40	72	3	4	1376	4	ABCB1	7	87160797	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	4574611	87160797	71977866	114	1978											
DLX5	1749	genome.wustl.edu	37	chr7	96651664	96651664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcaccattctcacctcggGctcggtcacttctttctcta	6	15	5	15	2	5	0	3	0	3	0	9	0	5	0	2	2	0	1	2	2	1	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:96651664G>A	ENST00000222598.4	-	2	846	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.P125S	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	125					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCACCTCGGGCTCGGTCACT	0.448																																																	0													113	112	112					7																	96651664		2203	4300	6503	SO:0001583	missense	0				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"Homeoboxes / ANTP class : NKL subclass"	2918	protein-coding gene	gene with protein product		600028	"distal-less homeo box 5"			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.373C>T	7.37:g.96651664G>A	ENSP00000222598:p.Pro125Ser		B7Z4P3|Q9UPL1	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P125S	ENST00000222598.4	37	c.373	CCDS5647.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365469	0.82463	.	.	ENSG00000105880	ENST00000222598	D	0.90955	-2.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	L	0.43554	1.36	0.80722	D	1	D;B	0.53312	0.959;0.228	P;B	0.46076	0.503;0.206	D	0.87488	0.2425	10	0.30078	T	0.28	-15.4406	18.7072	0.91643	0.0:0.0:1.0:0.0	.	125;125	B7Z4P3;P56178	.;DLX5_HUMAN	S	125	ENSP00000222598:P125S	ENSP00000222598:P125S	P	-	1	0	DLX5	96489600	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.587000	0.82613	2.752000	0.94435	0.467000	0.42956	CCC	DLX5	-	NULL	ENSG00000105880		0.448	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX5	HGNC	protein_coding	OTTHUMT00000334371.2		0	43	0	G			96651664	-1			no_errors	ENST00000222598	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	A	A	96651664	G	A	96651664	3	1	7	1	0	0	0	0	1	0	0	0	4588	1203	42	3	504	3	DLX5	7	96651664	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	9490867	96651664	62486999	115	1979											
COPS6	10980	genome.wustl.edu	37	chr7	99688230	99688230	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgtgtgagatcatcGagagccccctctttctgaag	8	11	11	11	1	3	3	1	2	2	2	5	5	4	3	3	1	1	0	3	1	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:99688230G>T	ENST00000303904.3	+	5	476	c.439G>T	c.(439-441)Gag>Tag	p.E147*	MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Nonsense_Mutation_p.E146*	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	147	MPN.				cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGAGATCATCGAGAGCCCCCT	0.498																																																	0													145	133	137					7																	99688230		2203	4300	6503	SO:0001587	stop_gained	0			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.439G>T	7.37:g.99688230G>T	ENSP00000304102:p.Glu147*		A4D2A3|O15387	Nonsense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.E147*	ENST00000303904.3	37	c.439	CCDS5682.1	7	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965443	0.74131	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	.	.	.	5.38	4.5	0.54988	.	0.117119	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-16.2898	12.077	0.53649	0.0826:0.0:0.9174:0.0	.	.	.	.	X	147;146	.	ENSP00000304102:E147X	E	+	1	0	COPS6	99526166	1.000000	0.71417	0.933000	0.37362	0.982000	0.71751	4.130000	0.57964	1.500000	0.48636	0.655000	0.94253	GAG	COPS6	-	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	ENSG00000168090		0.498	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3		0	70	0	G	NM_006833		99688230	1			no_errors	ENST00000303904	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.998	T	T	99688230	G	T	99688230	4	4	7	1	0	0	0	0	0	1	0	0	3744	1059	37	2	457	2	COPS6	7	99688230	Nonsense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	3036566	99688230	59450433	116	1980											
SVOPL	136306	genome.wustl.edu	37	chr7	138341216	138341216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaagggtaacatatagcCtcggtatttcgtgggcaaaa	14	9	11	7	2	0	1	0	0	0	1	2	1	0	1	1	3	2	3	1	3	7	5	rs535345971		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:138341216C>T	ENST00000419765.3	-	6	544	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	SVOPL_ENST00000436657.1_Missense_Mutation_p.G19S|SVOPL_ENST00000288513.5_Missense_Mutation_p.G19S|SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	171						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AACATATAGCCTCGGTATTTC	0.358													C|||	1	0.000199681	0	0.0014	5008	,	,		19563	0		0	False		,,,				2504	0																0													144	131	136					7																	138341216		2203	4300	6503	SO:0001583	missense	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.511G>A	7.37:g.138341216C>T	ENSP00000405482:p.Gly171Ser			Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G19S	ENST00000419765.3	37	c.55	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955609	0.73902	.	.	ENSG00000157703	ENST00000288513;ENST00000436657;ENST00000419765	T;T;T	0.81078	-1.45;-1.45;-0.26	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.097926	0.64402	D	0.000001	D	0.86268	0.5892	M	0.78285	2.405	0.40880	D	0.983983	P;P	0.50943	0.94;0.51	P;B	0.50791	0.65;0.154	D	0.88552	0.3117	10	0.66056	D	0.02	-22.6344	17.8837	0.88848	0.0:1.0:0.0:0.0	.	171;19	Q8N434;Q8N434-2	SVOPL_HUMAN;.	S	19;19;171	ENSP00000288513:G19S;ENSP00000417018:G19S;ENSP00000405482:G171S	ENSP00000288513:G19S	G	-	1	0	SVOPL	137991756	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.624000	0.67764	2.513000	0.84729	0.585000	0.79938	GGC	SVOPL	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157703		0.358	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	0	28	0	C	NM_174959		138341216	-1	tier1	-	no_errors	ENST00000288513	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	T	T	138341216	C	T	138341216	3	4	7	1	0	0	0	0	1	0	0	0	15471	681	24	3	1007	3	SVOPL	7	138341216	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	38652986	138341216	20797447	117	1981											
TAS2R3	50831	genome.wustl.edu	37	chr7	141464738	141464738	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttggtaatttcctaccAaaaaccaagatggctaagat	15	12	6	8	0	1	2	1	0	0	2	2	2	2	2	3	2	2	2	3	2	6	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:141464738A>G	ENST00000247879.2	+	1	842	c.780A>G	c.(778-780)ccA>ccG	p.P260P	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	260					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATTTCCTACCAAAAACCAAGA	0.398																																																	0													125	115	118					7																	141464738		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.780A>G	7.37:g.141464738A>G			A4D1U2|Q645W2|Q75MV6	Silent	SNP	pfam_TAS2_rcpt	p.P260	ENST00000247879.2	37	c.780	CCDS5867.1	7																																																																																			TAS2R3	-	pfam_TAS2_rcpt	ENSG00000127362		0.398	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R3	HGNC	protein_coding	OTTHUMT00000349288.1	-	0	80	0	A			141464738	1	tier1	-	no_errors	ENST00000247879	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.503	G	G	141464738	A	G	141464738	2	3	7	1	0	0	0	0	0	0	0	1	15619	117	5	4		4	TAS2R3	7	141464738	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	3123522	141464738	17673925	118	1982											
OR2F1	26211	genome.wustl.edu	37	chr7	143657084	143657084	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggaacagataaccagacTtgggtgagtgaatttattct	13	12	11	5	0	1	4	0	2	1	2	1	5	1	5	1	2	2	0	1	2	4	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:143657084T>C	ENST00000392899.1	+	1	58	c.21T>C	c.(19-21)acT>acC	p.T7T	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	7					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T7T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					ATAACCAGACTTGGGTGAGTG	0.423																																																	1	Substitution - coding silent(1)	large_intestine(1)											130	131	131					7																	143657084		2203	4300	6503	SO:0001819	synonymous_variant	0			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.21T>C	7.37:g.143657084T>C			A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T7	ENST00000392899.1	37	c.21	CCDS5887.1	7																																																																																			OR2F1	-	NULL	ENSG00000213215		0.423	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1	-	0	65	0	T			143657084	1	tier1	-	no_errors	ENST00000392899	ensembl	human	known	74_37	silent	11.63	38	5	SNP	0.000	C	C	143657084	T	C	143657084	2	2	7	1	0	0	0	0	0	0	0	1	11035	1596	56	4		4	OR2F1	7	143657084	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	2192346	143657084	15481579	119	1983											
MLL3	58508	genome.wustl.edu	37	chr7	151843811	151843811	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggctccaaaatcttaTcccagacacctacacaggga	14	6	6	15	0	1	1	0	0	1	1	3	2	3	2	4	2	1	1	4	2	4	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr7:151843811T>A	ENST00000262189.6	-	53	14122	c.13904A>T	c.(13903-13905)gAt>gTt	p.D4635V	KMT2C_ENST00000355193.2_Missense_Mutation_p.D4692V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4635	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAAAATCTTATCCCAGACACC	0.388																																																	0													58	60	59					7																	151843811		2203	4300	6503	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13904A>T	7.37:g.151843811T>A	ENSP00000262189:p.Asp4635Val		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D4692V	ENST00000262189.6	37	c.14075	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	15.92	2.975563	0.53720	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.42900	0.96;0.96;0.96	5.18	5.18	0.71444	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.44483	U	0.000454	T	0.61211	0.2329	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.64960	-0.6284	10	0.87932	D	0	.	15.0353	0.71741	0.0:0.0:0.0:1.0	.	4635;3753;4692	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	4635;4692;1252	ENSP00000262189:D4635V;ENSP00000347325:D4692V;ENSP00000410411:D1252V	ENSP00000262189:D4635V	D	-	2	0	MLL3	151474744	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	8.036000	0.88901	1.955000	0.56771	0.455000	0.32223	GAT	KMT2C	-	pfam_FYrich_C,smart_FYrich_C	ENSG00000055609		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	42	0	T			151843811	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A	A	151843811	T	A	151843811	3	1	7	1	0	0	0	0	1	0	0	0	9660	1435	50	5	859	5	MLL3	7	151843811	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	8186727	151843811	7294852	120	1984											
MYOM2	9172	genome.wustl.edu	37	chr8	2054306	2054306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgtacttaaagaatccgGataaggaggatttagggact	14	10	12	5	1	0	1	0	0	0	1	1	5	1	5	1	4	2	2	1	4	6	5	rs568244508		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:2054306G>T	ENST00000262113.4	+	23	3058	c.2917G>T	c.(2917-2919)Gat>Tat	p.D973Y	MYOM2_ENST00000523438.1_Missense_Mutation_p.D398Y	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	973	Ig-like C2-type 3.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.D973N(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AAAGAATCCGGATAAGGAGGA	0.413																																																	1	Substitution - Missense(1)	lung(1)											113	113	113					8																	2054306		2203	4300	6503	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2917G>T	8.37:g.2054306G>T	ENSP00000262113:p.Asp973Tyr		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D973Y	ENST00000262113.4	37	c.2917	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841747	0.51057	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.41065	1.01;1.01	5.43	5.43	0.79202	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.200909	0.49916	D	0.000121	T	0.62792	0.2457	M	0.67953	2.075	0.50313	D	0.999863	D	0.76494	0.999	P	0.62649	0.905	T	0.64786	-0.6325	10	0.62326	D	0.03	.	19.242	0.93888	0.0:0.0:1.0:0.0	.	973	P54296	MYOM2_HUMAN	Y	973;398	ENSP00000262113:D973Y;ENSP00000428396:D398Y	ENSP00000262113:D973Y	D	+	1	0	MYOM2	2041713	1.000000	0.71417	0.421000	0.26609	0.034000	0.12701	9.503000	0.97984	2.536000	0.85505	0.643000	0.83706	GAT	MYOM2	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000036448		0.413	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1		0	39	0	G	NM_003970		2054306	1			no_errors	ENST00000262113	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.999	T	T	2054306	G	T	2054306	3	4	7	1	0	0	0	0	1	0	0	0	10130	1174	41	3	3003	3	MYOM2	8	2054306	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09		2054306	144309716	121	1985											
TUSC3	7991	genome.wustl.edu	37	chr8	15480646	15480646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagttccagacgctcaatcTtccgaatgaatggtgataaa	13	10	10	8	2	2	3	1	2	1	1	4	5	4	4	2	2	0	2	2	2	5	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:15480646T>C	ENST00000503731.1	+	2	344	c.196T>C	c.(196-198)Ttc>Ctc	p.F66L	TUSC3_ENST00000509380.1_Missense_Mutation_p.F66L|TUSC3_ENST00000506802.1_Missense_Mutation_p.F66L|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000382020.4_Missense_Mutation_p.F66L	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	66	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACGCTCAATCTTCCGAATGAA	0.388																																																	0													76	77	77					8																	15480646		2203	4300	6503	SO:0001583	missense	0			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.196T>C	8.37:g.15480646T>C	ENSP00000424544:p.Phe66Leu		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.F66L	ENST00000503731.1	37	c.196	CCDS5994.1	8	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404290	0.42613	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.59	4.3	0.51218	Thioredoxin-like fold (2);	0.201983	0.52532	D	0.000071	T	0.12774	0.0310	N	0.01168	-0.975	0.37345	D	0.910577	B;B;B;B;B;B	0.25850	0.001;0.0;0.0;0.0;0.0;0.136	B;B;B;B;B;B	0.24541	0.0;0.0;0.0;0.0;0.0;0.054	T	0.10683	-1.0619	10	0.39692	T	0.17	-16.6301	8.3631	0.32369	0.331:0.0:0.0:0.669	.	66;66;66;66;66;66	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	L	66	ENSP00000371450:F66L;ENSP00000425777:F66L;ENSP00000423426:F66L;ENSP00000424544:F66L	ENSP00000221167:F66L	F	+	1	0	TUSC3	15525017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.224000	0.42945	2.263000	0.75096	0.528000	0.53228	TTC	TUSC3	-	superfamily_Thioredoxin-like_fold	ENSG00000104723		0.388	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TUSC3	HGNC	protein_coding	OTTHUMT00000365367.1		0	70	0	T	NM_006765		15480646	1			no_errors	ENST00000503731	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	C	C	15480646	T	C	15480646	3	2	7	1	0	0	0	0	1	0	0	0	16827	1609	56	4	202	4	TUSC3	8	15480646	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	13426340	15480646	130883376	122	1986											
TEX15	56154	genome.wustl.edu	37	chr8	30702209	30702209	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctgaagaggagccttttAcattatcttttaaaagcaga	13	15	7	6	0	2	3	0	1	2	2	2	4	2	4	1	1	3	1	1	1	5	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:30702209A>G	ENST00000256246.2	-	1	4399	c.4325T>C	c.(4324-4326)gTa>gCa	p.V1442A		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1442					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGAGCCTTTTACATTATCTTT	0.353																																																	0													73	71	72					8																	30702209		2202	4300	6502	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.4325T>C	8.37:g.30702209A>G	ENSP00000256246:p.Val1442Ala			Missense_Mutation	SNP	NULL	p.V1442A	ENST00000256246.2	37	c.4325	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627165	0.28978	.	.	ENSG00000133863	ENST00000256246	T	0.12879	2.64	5.32	-2.98	0.05513	.	1.765580	0.02650	N	0.106274	T	0.09730	0.0239	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.36407	-0.9749	10	0.87932	D	0	.	0.2633	0.00221	0.3368:0.1421:0.2451:0.276	.	1442	Q9BXT5	TEX15_HUMAN	A	1442	ENSP00000256246:V1442A	ENSP00000256246:V1442A	V	-	2	0	TEX15	30821751	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.107000	0.15375	-0.450000	0.07107	0.528000	0.53228	GTA	TEX15	-	NULL	ENSG00000133863		0.353	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0	53	0	A			30702209	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	G	G	30702209	A	G	30702209	3	3	7	1	0	0	0	0	1	0	0	0	15826	391	14	4	4060	4	TEX15	8	30702209	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	15221563	30702209	115661813	123	1987											
NRG1	3084	genome.wustl.edu	37	chr8	32611911	32611911	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggaggagctgtaccagaAgagagtgctgaccataaccg	12	5	15	9	2	0	3	0	1	0	2	0	6	0	5	3	3	4	3	3	3	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:32611911A>C	ENST00000405005.3	+	8	722	c.722A>C	c.(721-723)aAg>aCg	p.K241T	NRG1_ENST00000521670.1_Missense_Mutation_p.K241T|NRG1_ENST00000519301.1_Missense_Mutation_p.K191T|NRG1_ENST00000539990.1_Missense_Mutation_p.K84T|NRG1_ENST00000287842.3_Missense_Mutation_p.K238T|NRG1_ENST00000338921.4_Missense_Mutation_p.K249T|NRG1_ENST00000287845.5_Missense_Mutation_p.K212T|NRG1_ENST00000523079.1_Missense_Mutation_p.K238T|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.K246T			Q02297	NRG1_HUMAN	neuregulin 1	241					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTACCAGAAGAGAGTGCTG	0.527																																																	0													218	144	169					8																	32611911		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.722A>C	8.37:g.32611911A>C	ENSP00000384620:p.Lys241Thr		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.K249T	ENST00000405005.3	37	c.746	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	19.76	3.886959	0.72410	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000521670;ENST00000518084;ENST00000522402;ENST00000519240;ENST00000539990	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;2.61;0.05	5.47	5.47	0.80525	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	L	0.60845	1.875	0.80722	D	1	D;D;P;B;P;P;B;B;B;B;P	0.76494	0.998;0.999;0.747;0.429;0.484;0.747;0.017;0.286;0.22;0.429;0.712	D;D;P;B;P;P;B;B;B;B;P	0.87578	0.996;0.998;0.679;0.396;0.531;0.781;0.015;0.396;0.264;0.396;0.525	T	0.78924	-0.2012	10	0.87932	D	0	-0.1043	15.5539	0.76177	1.0:0.0:0.0:0.0	.	84;87;238;212;246;237;249;238;241;246;241	B7Z1E3;B7Z1D7;E9PHH4;F8W9E3;Q7RTW4;B0FYA9;Q02297-2;Q02297-7;Q02297;Q02297-6;Q02297-3	.;.;.;.;.;.;.;.;NRG1_HUMAN;.;.	T	208;191;314;238;249;246;241;212;238;241;241;92;87;84;84	ENSP00000430053:K208T;ENSP00000429582:K191T;ENSP00000429067:K314T;ENSP00000430120:K238T;ENSP00000343395:K249T;ENSP00000349275:K246T;ENSP00000287840:K241T;ENSP00000287845:K212T;ENSP00000287842:K238T;ENSP00000384620:K241T;ENSP00000428828:K241T;ENSP00000430862:K87T;ENSP00000428411:K84T;ENSP00000439276:K84T	ENSP00000287840:K241T	K	+	2	0	NRG1	32731453	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.077000	0.62373	0.528000	0.53228	AAG	NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.527	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	60	0	A			32611911	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	48.65	18	18	SNP	1.000	C	C	32611911	A	C	32611911	3	2	7	1	0	0	0	0	1	0	0	0	10686	72	3	4	2348	4	NRG1	8	32611911	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	1909702	32611911	113752111	124	1988											
PREX2	80243	genome.wustl.edu	37	chr8	68934343	68934343	+	Frame_Shift_Del	DEL	A	A	-																															aaaaattacttcttgaactcAacaaaataagaacaatccgg																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:68934343delA	ENST00000288368.4	+	4	686	c.409delA	c.(409-411)aacfs	p.N137fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	137	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTTGAACTCAACAAAATAAG	0.318																																																	0													124	118	120					8																	68934343		2202	4300	6502	SO:0001589	frameshift_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.409delA	8.37:g.68934343delA	ENSP00000288368:p.Asn137fs		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Frame_Shift_Del	DEL	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.N137fs	ENST00000288368.4	37	c.409	CCDS6201.1	8																																																																																			PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.318	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1		0	42	0	A	NM_025170		68934343	1	tier1		no_errors	ENST00000288368	ensembl	human	known	74_37	frame_shift_del	29.55	31	13	DEL	1.000	-	-	68934343	A	-	68934343	7	5	7	1	0	1	0	1	0	0	0	0	12519	130	5	0	423	0	PREX2	8	68934343	Frame_Shift_Del	DEL	A	TCGA-2H-A9GL-01A-12D-A37C-09	36322432	68934343	77429679	125	1989	5	2									
PREX2	80243	genome.wustl.edu	37	chr8	68934346	68934346	+	Missense_Mutation	SNP	A	A	C																															aattacttcttgaactcaacAaaataagaacaatccggaca																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:68934346A>C	ENST00000288368.4	+	4	689	c.412A>C	c.(412-414)Aaa>Caa	p.K138Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	138	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAACTCAACAAAATAAGAAC	0.323																																																	0													123	117	119					8																	68934346		2202	4300	6502	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.412A>C	8.37:g.68934346A>C	ENSP00000288368:p.Lys138Gln		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K138Q	ENST00000288368.4	37	c.412	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738470	0.89573	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.70282	-0.47	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.91635	0.999;0.981;0.991	D	0.83714	0.0189	10	0.62326	D	0.03	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	138;138;138	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	138	ENSP00000288368:K138Q	ENSP00000288368:K138Q	K	+	1	0	PREX2	69096900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.939000	0.92951	2.317000	0.78254	0.460000	0.39030	AAA	PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.323	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	41	0	A	NM_025170		68934346	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	C	C	68934346	A	C	68934346	3	2	7	1	0	0	0	0	1	0	0	0	12519	131	5	4	426	4	PREX2	8	68934346	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	3	68934346	77429676	126	1990	5	2									
ESRP1	54845	genome.wustl.edu	37	chr8	95704982	95704982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctccacagcctggcaCggtggtcagaatgcagggcc	7	7	13	14	1	1	1	1	0	0	1	3	1	3	1	4	4	2	2	4	4	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:95704982C>G	ENST00000433389.2	+	14	2088	c.1898C>G	c.(1897-1899)aCg>aGg	p.T633R	ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000423620.2_Missense_Mutation_p.T629R|ESRP1_ENST00000358397.5_Missense_Mutation_p.T629R	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	633					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CAGCCTGGCACGGTGGTCAGA	0.502																																																	0													78	75	76					8																	95704982		1916	4116	6032	SO:0001583	missense	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1898C>G	8.37:g.95704982C>G	ENSP00000405738:p.Thr633Arg		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.T633R	ENST00000433389.2	37	c.1898	CCDS47897.1	8	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954364	0.53293	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000517610	T;T;T;T	0.28666	1.6;2.94;2.88;1.6	6.07	4.27	0.50696	.	0.222962	0.46758	D	0.000264	T	0.19805	0.0476	N	0.19112	0.55	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.004;0.009;0.004	T	0.04467	-1.0949	10	0.30854	T	0.27	-7.1704	11.5709	0.50832	0.0:0.8512:0.0:0.1488	.	629;629;633	E9PB47;Q6NXG1-3;Q6NXG1	.;.;ESRP1_HUMAN	R	629;633;629;492	ENSP00000407349:T629R;ENSP00000405738:T633R;ENSP00000351168:T629R;ENSP00000429125:T492R	ENSP00000351168:T629R	T	+	2	0	ESRP1	95774158	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.158000	0.50723	1.581000	0.49865	0.655000	0.94253	ACG	ESRP1	-	NULL	ENSG00000104413		0.502	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	-	0	89	0	C	NM_017697		95704982	1	tier1	-	no_errors	ENST00000433389	ensembl	human	known	74_37	missense	13.79	50	8	SNP	1.000	G	G	95704982	C	G	95704982	3	3	7	1	0	0	0	0	1	0	0	0	5274	536	19	5	1952	5	ESRP1	8	95704982	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	26770636	95704982	50659040	127	1991											
RIMS2	9699	genome.wustl.edu	37	chr8	105025817	105025817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccttcattaatgactggAagatctgcccctccttcacc	9	12	6	14	0	3	2	2	1	1	1	4	3	4	3	5	1	2	0	5	1	2	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:105025817A>G	ENST00000507740.1	+	16	2870	c.2634A>G	c.(2632-2634)ggA>ggG	p.G878G	RIMS2_ENST00000406091.3_Silent_p.G1064G|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Silent_p.G903G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1126	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAATGACTGGAAGATCTGCCC	0.493										HNSCC(12;0.0054)																																							0													121	118	119					8																	105025817		1993	4170	6163	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.2634A>G	8.37:g.105025817A>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.G1064	ENST00000507740.1	37	c.3192	CCDS43761.1	8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.493	RIMS2-005	NOVEL	basic|CCDS	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367215.1	-	0	51	0	A	NM_001100117		105025817	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	55.32	21	26	SNP	1.000	G	G	105025817	A	G	105025817	2	3	7	1	0	0	0	0	0	0	0	1	13413	233	9	4		4	RIMS2	8	105025817	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	9320835	105025817	41338205	128	1992											
KCNV1	27012	genome.wustl.edu	37	chr8	110980794	110980794	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaggccgacttcttcgtaAcactgggtgattgtcatccc	8	12	10	11	2	2	1	1	1	1	0	4	2	3	1	2	2	1	2	2	2	2	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr8:110980794A>G	ENST00000524391.1	-	4	2058	c.1026T>C	c.(1024-1026)tgT>tgC	p.C342C	KCNV1_ENST00000297404.1_Silent_p.C342C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	342					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CTTCTTCGTAACACTGGGTGA	0.473																																																	0													73	61	65					8																	110980794		2203	4300	6503	SO:0001819	synonymous_variant	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1026T>C	8.37:g.110980794A>G			Q9UHJ4	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.C342	ENST00000524391.1	37	c.1026	CCDS6314.1	8																																																																																			KCNV1	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4	ENSG00000164794		0.473	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0	20	0	A	NM_014379		110980794	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	silent	30.77	9	4	SNP	1.000	G	G	110980794	A	G	110980794	2	3	7	1	0	0	0	0	0	0	0	1	8121	41	2	4		4	KCNV1	8	110980794	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	5954977	110980794	35383228	129	1993											
KIAA1539	80256	genome.wustl.edu	37	chr9	35107913	35107913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacacagaggccacggTgggagaaatgctggctggcc	11	4	14	12	1	0	2	0	0	0	2	0	3	0	2	3	5	2	2	3	5	2	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:35107913T>C	ENST00000378561.1	-	2	3414	c.359A>G	c.(358-360)cAc>cGc	p.H120R	FAM214B_ENST00000378557.1_Missense_Mutation_p.H120R|FAM214B_ENST00000603301.1_Missense_Mutation_p.H120R|FAM214B_ENST00000488109.2_Missense_Mutation_p.H120R|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.H120R|FAM214B_ENST00000378554.2_Missense_Mutation_p.H120R|FAM214B_ENST00000605244.1_Missense_Mutation_p.H120R			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	120						nucleus (GO:0005634)											GAGGCCACGGTGGGAGAAATG	0.602																																																	0													45	52	50					9																	35107913		2203	4300	6503	SO:0001583	missense	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.359A>G	9.37:g.35107913T>C	ENSP00000367823:p.His120Arg		B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	NULL	p.H120R	ENST00000378561.1	37	c.359	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754918	0.49362	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.71358	0.3330	L	0.59436	1.845	0.34516	D	0.707643	D	0.63880	0.993	D	0.72338	0.977	T	0.79624	-0.1726	9	0.49607	T	0.09	-17.4083	14.6319	0.68663	0.0:0.0:0.0:1.0	.	120	Q7L5A3	K1539_HUMAN	R	120	.	ENSP00000319897:H120R	H	-	2	0	KIAA1539	35097913	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	3.534000	0.53568	2.048000	0.60808	0.454000	0.30748	CAC	FAM214B	-	NULL	ENSG00000005238		0.602	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0	111	0	T	NM_025182		35107913	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	missense	5.56	119	7	SNP	0.996	C	C	35107913	T	C	35107913	3	2	7	1	0	0	0	0	1	0	0	0	8269	1696	59	4	1285	4	KIAA1539	9	35107913	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09		35107913	106105518	130	1994											
PRUNE2	158471	genome.wustl.edu	37	chr9	79318388	79318389	+	Frame_Shift_Ins	INS	-	-	T																															gtcatgggtgacagcctgcaINSacgtaactgcatccgggcca																								rs376038487|rs11267615	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:79318388_79318389insT	ENST00000376718.3	-	9	8263_8264	c.8140_8141insA	c.(8140-8142)ttgfs	p.L2714fs	PRUNE2_ENST00000428286.1_Frame_Shift_Ins_p.L2355fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2714				Missing (in Ref. 4; BAD93351, 5; AAR15150/AAR15151 and 6; BAA20822). {ECO:0000305}.	apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAGCCTGCAACGTAACTGCA	0.52																																																	0																																										SO:0001589	frameshift_variant	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8140_8141insA	9.37:g.79318388_79318389insT	ENSP00000365908:p.Leu2714fs		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Ins	INS	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L2355fs	ENST00000376718.3	37	c.7064_7063	CCDS47982.1	9																																																																																			PRUNE2	-	NULL	ENSG00000106772		0.52	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0	45	0	-	NM_138818		79318389	-1	tier1		no_errors	ENST00000428286	ensembl	human	known	74_37	frame_shift_ins	15.00	17	3	INS	0.010:0.000	T	T	79318389	-	T	79318388	7	5	7	1	0	1	1	0	0	0	0	0	12683	131	5	0	1169	0	PRUNE2	9	79318388	Frame_Shift_Ins	INS	-	TCGA-2H-A9GL-01A-12D-A37C-09	44210475	79318388	61895043	131	1995											
ASTN2	23245	genome.wustl.edu	37	chr9	119568025	119568025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagtcaggtttgaggcacTtggggccctcgcagacatct	7	10	14	10	1	2	2	1	1	1	1	3	3	2	3	1	5	0	3	1	5	0	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:119568025T>C	ENST00000313400.4	-	13	2382	c.2282A>G	c.(2281-2283)aAg>aGg	p.K761R	ASTN2_ENST00000373996.3_Missense_Mutation_p.K757R|ASTN2_ENST00000361209.2_Missense_Mutation_p.K710R|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	761					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGAGGCACTTGGGGCCCTC	0.478																																																	0													215	205	208					9																	119568025		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2282A>G	9.37:g.119568025T>C	ENSP00000314038:p.Lys761Arg		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.K761R	ENST00000313400.4	37	c.2282		9	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646010	0.67358	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13196	2.78;2.78;2.61;2.81	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	N	0.12182	0.205	0.54753	D	0.999986	P;D;P	0.69078	0.944;0.997;0.935	P;D;P	0.73380	0.465;0.98;0.693	T	0.19516	-1.0303	9	.	.	.	-27.6257	15.2719	0.73708	0.0:0.0:0.0:1.0	.	710;761;757	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	R	761;757;484;710	ENSP00000314038:K761R;ENSP00000363108:K757R;ENSP00000363098:K484R;ENSP00000354504:K710R	.	K	-	2	0	ASTN2	118607846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.359000	0.79477	1.994000	0.58287	0.533000	0.62120	AAG	ASTN2	-	NULL	ENSG00000148219		0.478	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	72	0	T	NM_014010		119568025	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	80.26	15	61	SNP	1.000	C	C	119568025	T	C	119568025	3	2	7	1	0	0	0	0	1	0	0	0	1066	1609	56	4	2013	4	ASTN2	9	119568025	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	40249637	119568025	21645406	132	1996											
OLFML2A	169611	genome.wustl.edu	37	chr9	127549514	127549514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcaggcgcccgagctcctCaaggtagacttggtggggtg	8	7	16	10	2	1	1	1	0	0	1	2	2	2	1	2	5	2	3	2	5	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:127549514C>T	ENST00000373580.3	+	2	351	c.351C>T	c.(349-351)ctC>ctT	p.L117L		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	117					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCGAGCTCCTCAAGGTAGACT	0.572																																																	0													49	56	54					9																	127549514		2001	4173	6174	SO:0001819	synonymous_variant	0			AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.351C>T	9.37:g.127549514C>T			Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.L117	ENST00000373580.3	37	c.351	CCDS6857.2	9																																																																																			OLFML2A	-	NULL	ENSG00000185585		0.572	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML2A	HGNC	protein_coding	OTTHUMT00000054046.2	-	0	33	0	C	NM_182487		127549514	1	tier1	-	no_errors	ENST00000373580	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T	T	127549514	C	T	127549514	2	4	7	1	0	0	0	0	0	0	0	1	10896	813	29	3		3	OLFML2A	9	127549514	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	7981489	127549514	13663917	133	1997											
GAPVD1	26130	genome.wustl.edu	37	chr9	128112613	128112613	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgctctttgctctgcGgactctgttgccttcccagt	3	15	10	13	1	3	0	0	0	3	0	4	1	4	1	2	2	4	4	2	2	0	4	rs371619035		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:128112613G>T	ENST00000495955.1	+	22	3683	c.3393G>T	c.(3391-3393)gcG>gcT	p.A1131A	GAPVD1_ENST00000394104.2_Silent_p.A1131A|GAPVD1_ENST00000394105.2_Silent_p.A1140A|GAPVD1_ENST00000394083.2_Silent_p.A1065A|GAPVD1_ENST00000265956.4_Silent_p.A1105A|GAPVD1_ENST00000470056.1_Silent_p.A1086A|GAPVD1_ENST00000312123.9_Silent_p.A1092A|GAPVD1_ENST00000297933.6_Silent_p.A1113A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1131					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTTGCTCTGCGGACTCTGTTG	0.393																																																	0													105	108	107					9																	128112613		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.3393G>T	9.37:g.128112613G>T			A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.A1140	ENST00000495955.1	37	c.3420		9																																																																																			GAPVD1	-	NULL	ENSG00000165219		0.393	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	-	0	52	0	G			128112613	1	tier1	-	no_errors	ENST00000394105	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T	T	128112613	G	T	128112613	2	4	7	1	0	0	0	0	0	0	0	1	6264	1103	39	2		2	GAPVD1	9	128112613	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	563099	128112613	13100818	134	1998											
C9orf50	375759	genome.wustl.edu	37	chr9	132375866	132375866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttctggttcacaatgacGctctgttggactgcaggaaa	9	11	11	10	1	3	1	1	1	2	0	3	3	3	3	1	3	1	4	1	3	2	3	rs146176082		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:132375866G>A	ENST00000372478.4	-	5	1092	c.891C>T	c.(889-891)agC>agT	p.S297S	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	297										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCACAATGACGCTCTGTTGGA	0.632																																																	0													66	66	66					9																	132375866		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.891C>T	9.37:g.132375866G>A			Q2M1I2|Q8NA65	Silent	SNP	NULL	p.S297	ENST00000372478.4	37	c.891	CCDS35159.1	9																																																																																			C9orf50	-	NULL	ENSG00000179058		0.632	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1	-	0	45	0	G	NM_199350		132375866	-1	tier1	-	no_errors	ENST00000372478	ensembl	human	known	74_37	silent	21.54	51	14	SNP	0.002	A	A	132375866	G	A	132375866	2	1	7	1	0	0	0	0	0	0	0	1	2494	1078	38	1		1	C9orf50	9	132375866	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4263253	132375866	8837565	135	1999											
TSC1	7248	genome.wustl.edu	37	chr9	135786044	135786044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggctggaggaggagaggTtgctggggttcccagaggag	7	7	22	5	0	0	2	0	0	0	2	1	6	1	5	1	9	1	4	1	9	0	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:135786044T>A	ENST00000298552.3	-	12	1398	c.1177A>T	c.(1177-1179)Acc>Tcc	p.T393S	TSC1_ENST00000440111.2_Missense_Mutation_p.T393S|TSC1_ENST00000545250.1_Missense_Mutation_p.T342S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	393					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGAGGAGAGGTTGCTGGGGTT	0.527			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											161	174	170					9																	135786044		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1177A>T	9.37:g.135786044T>A	ENSP00000298552:p.Thr393Ser		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.T393S	ENST00000298552.3	37	c.1177	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689689	0.88735	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000424271	D;D;D	0.89415	-2.51;-2.51;-2.51	5.78	5.78	0.91487	.	0.133339	0.64402	D	0.000002	D	0.92864	0.7730	M	0.70595	2.14	0.80722	D	1	B;P;D;D	0.69078	0.284;0.549;0.997;0.983	B;B;D;P	0.66196	0.26;0.149;0.942;0.833	D	0.91144	0.4948	10	0.22109	T	0.4	-3.8698	15.3024	0.73962	0.0:0.0:0.0:1.0	.	342;393;392;393	B7Z897;Q59IT9;Q32NF0;Q92574	.;.;.;TSC1_HUMAN	S	393;393;342;272	ENSP00000298552:T393S;ENSP00000394524:T393S;ENSP00000444017:T342S	ENSP00000298552:T393S	T	-	1	0	TSC1	134775865	1.000000	0.71417	0.996000	0.52242	0.907000	0.53573	5.927000	0.70080	2.202000	0.70862	0.523000	0.50628	ACC	TSC1	-	pfam_Hamartin	ENSG00000165699		0.527	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1		0	45	0	T			135786044	-1			no_errors	ENST00000298552	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	A	A	135786044	T	A	135786044	3	1	7	1	0	0	0	0	1	0	0	0	16653	1725	60	5	2365	5	TSC1	9	135786044	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	3410178	135786044	5427387	136	2000											
COL5A1	1289	genome.wustl.edu	37	chr9	137623929	137623929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccccagattggaggacctCggggcgagaaaggccaaaag	13	3	14	11	2	0	2	0	0	0	2	1	5	0	4	4	5	0	0	4	5	3	1	rs374020067		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:137623929C>T	ENST00000371817.3	+	9	1759	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	449	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGAGGACCTCGGGGCGAGAA	0.532																																																	0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	110	101	104		1345	3.6	0.6	9		104	0,8600		0,0,4300	no	missense	COL5A1	NM_000093.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	449/1839	137623929	1,13005	2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1345C>T	9.37:g.137623929C>T	ENSP00000360882:p.Arg449Trp		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R449W	ENST00000371817.3	37	c.1345	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894743	0.33442	2.27E-4	0.0	ENSG00000130635	ENST00000371817	D	0.97041	-4.22	4.53	3.62	0.41486	.	0.000000	0.64402	U	0.000003	D	0.96731	0.8933	L	0.54323	1.7	0.47698	D	0.999497	D	0.76494	0.999	P	0.57620	0.824	D	0.95270	0.8376	10	0.41790	T	0.15	.	11.0831	0.48072	0.3361:0.6639:0.0:0.0	.	449	P20908	CO5A1_HUMAN	W	449	ENSP00000360882:R449W	ENSP00000360882:R449W	R	+	1	2	COL5A1	136763750	0.998000	0.40836	0.616000	0.29078	0.526000	0.34562	3.932000	0.56537	0.859000	0.35456	0.462000	0.41574	CGG	COL5A1	-	NULL	ENSG00000130635		0.532	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	91	0	C	NM_000093		137623929	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	10.67	67	8	SNP	0.853	T	T	137623929	C	T	137623929	3	4	7	1	0	0	0	0	1	0	0	0	3703	875	31	1	1379	1	COL5A1	9	137623929	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1837885	137623929	3589502	137	2001											
COL5A1	1289	genome.wustl.edu	37	chr9	137697036	137697036	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggactgaaaggcaatgaaggGccccctggcccaccaggccc	10	3	13	15	0	0	2	0	2	0	0	0	3	0	3	5	5	0	1	5	5	3	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr9:137697036G>C	ENST00000371817.3	+	41	3648	c.3234G>C	c.(3232-3234)ggG>ggC	p.G1078G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1078	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCAATGAAGGGCCCCCTGGCC	0.597																																																	0													91	92	92					9																	137697036		2203	4300	6503	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3234G>C	9.37:g.137697036G>C			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1078	ENST00000371817.3	37	c.3234	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	38	0	G	NM_000093		137697036	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.536	C	C	137697036	G	C	137697036	2	2	7	1	0	0	0	0	0	0	0	1	3703	1190	42	5		5	COL5A1	9	137697036	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	73107	137697036	3516395	138	2002											
SLC39A12	221074	genome.wustl.edu	37	chr10	18250769	18250769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggctttcaccaggcagtActttgacacttctcaaagcc	9	12	7	13	0	2	1	2	1	1	0	3	1	2	1	2	2	2	3	2	2	2	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:18250769A>T	ENST00000377369.2	+	3	794	c.521A>T	c.(520-522)tAc>tTc	p.Y174F	SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y40F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y174F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y174F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	174					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACCAGGCAGTACTTTGACACT	0.408																																																	0													62	61	61					10																	18250769		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.521A>T	10.37:g.18250769A>T	ENSP00000366586:p.Tyr174Phe		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.Y174F	ENST00000377369.2	37	c.521	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050145	0.55218	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.64085	1.99;1.99;1.99;-0.08	5.59	5.59	0.84812	.	1.451800	0.03700	N	0.248361	T	0.73745	0.3626	M	0.65975	2.015	0.38283	D	0.942475	P;P;P	0.49253	0.921;0.872;0.921	P;B;P	0.47705	0.555;0.352;0.555	T	0.63462	-0.6632	10	0.72032	D	0.01	-4.3263	15.7769	0.78228	1.0:0.0:0.0:0.0	.	174;174;174	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	F	174;174;174;40;94	ENSP00000366586:Y174F;ENSP00000366591:Y174F;ENSP00000366588:Y174F;ENSP00000440445:Y40F	ENSP00000366586:Y174F	Y	+	2	0	SLC39A12	18290775	1.000000	0.71417	0.923000	0.36655	0.576000	0.36127	4.498000	0.60373	2.117000	0.64856	0.528000	0.53228	TAC	SLC39A12	-	NULL	ENSG00000148482		0.408	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	51	0	A	NM_152725		18250769	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	50.00	19	19	SNP	1.000	T	T	18250769	A	T	18250769	3	4	7	1	0	0	0	0	1	0	0	0	14660	391	14	5	527	5	SLC39A12	10	18250769	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09		18250769	117283978	139	2003											
SLC39A12	221074	genome.wustl.edu	37	chr10	18289737	18289737	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgctatcttgtgtcatgAaatcccacatgaaatgggta	12	13	9	7	0	2	2	1	2	1	0	3	3	3	2	1	1	1	2	1	1	4	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:18289737A>T	ENST00000377369.2	+	11	2015	c.1742A>T	c.(1741-1743)gAa>gTa	p.E581V	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E447V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.E580V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E544V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	581					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTGTGTCATGAAATCCCACAT	0.423																																																	0													113	95	101					10																	18289737		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1742A>T	10.37:g.18289737A>T	ENSP00000366586:p.Glu581Val		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.E581V	ENST00000377369.2	37	c.1742	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	23.7	4.442740	0.83993	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.88282	0.2937	10	0.87932	D	0	-25.4045	16.1203	0.81346	1.0:0.0:0.0:0.0	.	580;581;544	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	V	581;544;580;447;501	ENSP00000366586:E581V;ENSP00000366591:E544V;ENSP00000366588:E580V;ENSP00000440445:E447V	ENSP00000366586:E581V	E	+	2	0	SLC39A12	18329743	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	9.287000	0.95975	2.274000	0.75844	0.533000	0.62120	GAA	SLC39A12	-	pfam_ZIP	ENSG00000148482		0.423	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	83	0	A	NM_152725		18289737	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	63.93	22	39	SNP	1.000	T	T	18289737	A	T	18289737	3	4	7	1	0	0	0	0	1	0	0	0	14660	246	9	5	1780	5	SLC39A12	10	18289737	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	38968	18289737	117245010	140	2004											
MYO3A	53904	genome.wustl.edu	37	chr10	26436474	26436474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaactagtcaaccaccCtctgaccaaaacaggtaaga	16	6	7	12	0	2	2	1	1	1	1	2	2	2	2	3	2	3	2	3	2	7	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:26436474C>G	ENST00000265944.5	+	23	2787	c.2621C>G	c.(2620-2622)cCt>cGt	p.P874R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	874	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P874L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GTCAACCACCCTCTGACCAAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											146	124	131					10																	26436474		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2621C>G	10.37:g.26436474C>G	ENSP00000265944:p.Pro874Arg		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P874R	ENST00000265944.5	37	c.2621	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549931	0.86127	.	.	ENSG00000095777	ENST00000265944	D	0.86769	-2.17	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.047920	0.85682	D	0.000000	D	0.91898	0.7435	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91083	0.4901	10	0.45353	T	0.12	.	19.5226	0.95192	0.0:1.0:0.0:0.0	.	874	Q8NEV4	MYO3A_HUMAN	R	874	ENSP00000265944:P874R	ENSP00000265944:P874R	P	+	2	0	MYO3A	26476480	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.776000	0.85560	2.690000	0.91761	0.555000	0.69702	CCT	MYO3A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000095777		0.398	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0	22	0	C	NM_017433		26436474	1			no_errors	ENST00000265944	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	G	G	26436474	C	G	26436474	3	3	7	1	0	0	0	0	1	0	0	0	10114	681	24	5	2703	5	MYO3A	10	26436474	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	8146737	26436474	109098273	141	2005											
PCDH15	65217	genome.wustl.edu	37	chr10	55582963	55582963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtgaattttcttgcagacTtcagtttgttgctcttaagt	8	19	8	6	0	3	2	1	1	2	1	3	2	3	2	0	0	2	4	0	0	2	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:55582963T>C	ENST00000320301.6	-	33	4917	c.4523A>G	c.(4522-4524)aAg>aGg	p.K1508R	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1510R|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1439R|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1485R|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1468R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1505R|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1508					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTGCAGACTTCAGTTTGTT	0.383										HNSCC(58;0.16)																																							0													95	95	95					10																	55582963		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4523A>G	10.37:g.55582963T>C	ENSP00000322604:p.Lys1508Arg		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1508R	ENST00000320301.6	37	c.4523	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	8.981	0.975287	0.18736	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.66638	0.07;0.06;0.11;0.05;0.05;-0.22	5.91	0.84	0.18912	.	.	.	.	.	T	0.56645	0.1999	L	0.55990	1.75	0.23043	N	0.99838	B;B;B;B;B;B;B;B	0.19706	0.005;0.021;0.021;0.021;0.038;0.005;0.005;0.021	B;B;B;B;B;B;B;B	0.13407	0.009;0.009;0.009;0.009;0.009;0.009;0.009;0.009	T	0.44345	-0.9334	9	0.35671	T	0.21	.	6.9031	0.24293	0.0:0.1262:0.2181:0.6557	.	1485;1508;1510;1515;1439;1468;1505;1508	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	R	1468;1510;1485;1508;1505;1515;1439	ENSP00000378820:K1468R;ENSP00000354950:K1510R;ENSP00000378821:K1485R;ENSP00000322604:K1508R;ENSP00000378818:K1505R;ENSP00000412628:K1439R	ENSP00000322604:K1508R	K	-	2	0	PCDH15	55252969	1.000000	0.71417	0.000000	0.03702	0.064000	0.16182	1.353000	0.34045	-0.096000	0.12329	-0.297000	0.09499	AAG	PCDH15	-	NULL	ENSG00000150275		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	47	0	T	NM_033056		55582963	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.621	C	C	55582963	T	C	55582963	3	2	7	1	0	0	0	0	1	0	0	0	11550	1609	56	4	2954	4	PCDH15	10	55582963	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	29146489	55582963	79951784	142	2006											
PCDH15	65217	genome.wustl.edu	37	chr10	55973754	55973754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactggctccaggagactaAgttctgctgtcctaggatgc	8	12	11	10	0	1	1	0	0	1	1	3	3	3	2	2	3	3	3	2	3	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:55973754A>G	ENST00000320301.6	-	10	1434	c.1040T>C	c.(1039-1041)cTt>cCt	p.L347P	PCDH15_ENST00000395440.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395438.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395442.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395445.1_Missense_Mutation_p.L347P|PCDH15_ENST00000414778.1_Missense_Mutation_p.L352P|PCDH15_ENST00000373965.2_Missense_Mutation_p.L347P|PCDH15_ENST00000361849.3_Missense_Mutation_p.L347P|PCDH15_ENST00000437009.1_Missense_Mutation_p.L347P|PCDH15_ENST00000373955.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395433.1_Missense_Mutation_p.L325P|PCDH15_ENST00000395432.2_Missense_Mutation_p.L310P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L347P|PCDH15_ENST00000395446.1_Missense_Mutation_p.L347P|PCDH15_ENST00000373957.3_Missense_Mutation_p.L325P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	347	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L352R(2)|p.L347R(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGAGACTAAGTTCTGCTGT	0.363										HNSCC(58;0.16)																																							3	Substitution - Missense(3)	large_intestine(3)											88	89	89					10																	55973754		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1040T>C	10.37:g.55973754A>G	ENSP00000322604:p.Leu347Pro		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L347P	ENST00000320301.6	37	c.1040	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827124	0.71143	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;1.7;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74199	0.3685	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;1.0;1.0;1.0;0.999;0.999;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.999;0.984;0.984;0.99;0.99;0.99;0.999;0.987;0.984;0.979;0.982;0.993;0.994;0.982;0.984	T	0.79165	-0.1916	9	0.87932	D	0	.	14.6174	0.68558	1.0:0.0:0.0:0.0	.	325;347;347;352;347;310;347;347;347;347;347;352;347;325;347	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	P	347;352;347;347;347;347;347;347;310;347;325;325;347;347;352;347;347	ENSP00000363076:L347P;ENSP00000410304:L352P;ENSP00000378826:L347P;ENSP00000378832:L347P;ENSP00000378833:L347P;ENSP00000378829:L347P;ENSP00000378827:L347P;ENSP00000378820:L310P;ENSP00000354950:L347P;ENSP00000378821:L325P;ENSP00000363068:L325P;ENSP00000322604:L347P;ENSP00000378818:L347P;ENSP00000412628:L347P;ENSP00000363066:L347P	ENSP00000322604:L347P	L	-	2	0	PCDH15	55643760	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.592000	0.74095	1.998000	0.58463	0.455000	0.32223	CTT	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	38	0	A	NM_033056		55973754	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	G	G	55973754	A	G	55973754	3	3	7	1	0	0	0	0	1	0	0	0	11550	72	3	4	6567	4	PCDH15	10	55973754	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	390791	55973754	79560993	143	2007											
DDX50	79009	genome.wustl.edu	37	chr10	70696800	70696800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcagctttagcccaCatttctggtgcatcaagctt	7	14	9	11	0	2	0	1	0	1	0	2	0	2	0	1	2	5	5	1	2	2	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:70696800C>T	ENST00000373585.3	+	12	1811	c.1704C>T	c.(1702-1704)caC>caT	p.H568H	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	568						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CTTTAGCCCACATTTCTGGTG	0.428																																																	0													120	118	119					10																	70696800		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1704C>T	10.37:g.70696800C>T			Q5VX37|Q8WV76|Q9BWI8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H568	ENST00000373585.3	37	c.1704	CCDS7283.1	10																																																																																			DDX50	-	NULL	ENSG00000107625		0.428	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0	42	0	C	NM_024045		70696800	1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.999	T	T	70696800	C	T	70696800	2	4	7	1	0	0	0	0	0	0	0	1	4377	477	17	3		3	DDX50	10	70696800	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	14723046	70696800	64837947	144	2008											
DLG5	9231	genome.wustl.edu	37	chr10	79566671	79566671	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttgctccacatctgccagCcggtcgtacagggccctgga	6	9	11	15	2	2	0	0	0	2	0	4	1	3	1	4	3	4	2	4	3	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:79566671C>A	ENST00000372391.2	-	26	4817	c.4812G>T	c.(4810-4812)cgG>cgT	p.R1604R	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.R1264R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1604	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CATCTGCCAGCCGGTCGTACA	0.602																																																	0													112	98	103					10																	79566671		2203	4300	6503	SO:0001819	synonymous_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4812G>T	10.37:g.79566671C>A			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R1604	ENST00000372391.2	37	c.4812	CCDS7353.2	10																																																																																			DLG5	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000151208		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0	58	0	C			79566671	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	silent	28.00	18	7	SNP	0.148	A	A	79566671	C	A	79566671	2	1	7	1	0	0	0	0	0	0	0	1	4572	726	26	3		3	DLG5	10	79566671	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	8869871	79566671	55968076	145	2009											
LIPN	643418	genome.wustl.edu	37	chr10	90528548	90528548	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttatctcctgttctctcaGggtttgtagccttttccacc	4	18	6	13	0	4	0	1	0	3	0	7	0	5	0	4	1	1	3	4	1	2	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:90528548G>C	ENST00000404459.1	+	5	535		c.e5-1			NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TGTTCTCTCAGGGTTTGTAGC	0.393																																																	0													86	80	82					10																	90528548		1842	4080	5922	SO:0001630	splice_region_variant	0				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"lipase-like, ab-hydrolase domain containing 4"	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.536-1G>C	10.37:g.90528548G>C			A7KIH9	Splice_Site	SNP	-	e5-1	ENST00000404459.1	37	c.536-1	CCDS44456.1	10	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703758	0.68501	.	.	ENSG00000204020	ENST00000404459	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2407	0.73468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPN	90518528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.640000	0.74319	2.652000	0.90054	0.650000	0.86243	.	LIPN	-	-	ENSG00000204020		0.393	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPN	HGNC	protein_coding	OTTHUMT00000049254.2	-	0	60	0	G	XM_926751	Intron	90528548	1	tier1	-	no_errors	ENST00000404459	ensembl	human	known	74_37	splice_site	35.29	32	18	SNP	1.000	C	C	90528548	G	C	90528548	5	2	7	1	0	0	0	0	0	0	1	0	8858	1014	35	5	553	5	LIPN	10	90528548	Splice_Site	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	10961877	90528548	45006199	146	2010											
PLCE1	51196	genome.wustl.edu	37	chr10	96030305	96030305	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgccaatcatcatatcGattgagaaccactgttcatt	12	12	6	11	1	3	1	3	1	0	1	4	4	3	1	3	0	2	1	3	0	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:96030305G>T	ENST00000371380.3	+	17	4687	c.4452G>T	c.(4450-4452)tcG>tcT	p.S1484S	PLCE1_ENST00000371375.1_Silent_p.S1176S|PLCE1_ENST00000260766.3_Silent_p.S1484S|PLCE1_ENST00000371385.3_Silent_p.S1176S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1484	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis). {ECO:0000269|PubMed:17086182}.		activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCATCATATCGATTGAGAACC	0.438																																																	0													132	126	128					10																	96030305		1986	4160	6146	SO:0001819	synonymous_variant	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4452G>T	10.37:g.96030305G>T			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.S1484	ENST00000371380.3	37	c.4452	CCDS41552.1	10																																																																																			PLCE1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000138193		0.438	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3		0	58	0	G	NM_016341		96030305	1			no_errors	ENST00000260766	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.045	T	T	96030305	G	T	96030305	2	4	7	1	0	0	0	0	0	0	0	1	12073	1045	37	2		2	PLCE1	10	96030305	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	5501757	96030305	39504442	147	2011											
PYROXD2	84795	genome.wustl.edu	37	chr10	100157138	100157140	+	In_Frame_Del	DEL	TCA	TCA	-																															cttgagggtggagagcgaccTcatcctttgcagcaaggagc																								rs560401937		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:100157138_100157140delTCA	ENST00000370575.4	-	6	635_637	c.587_589delTGA	c.(586-591)atgagg>agg	p.M196del	PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	196							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GAGAGCGACCTCATCCTTTGCAG	0.591																																																	0																																										SO:0001651	inframe_deletion	0			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 33"	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.587_589delTGA	10.37:g.100157138_100157140delTCA	ENSP00000359607:p.Met196del		D3DR61|Q5TAA9|Q9BRQ1	In_Frame_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.M196in_frame_del	ENST00000370575.4	37	c.589_587	CCDS7474.1	10																																																																																			PYROXD2	-	NULL	ENSG00000119943		0.591	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2		0	30	0	TCA	NM_032709		100157140	-1	tier1		no_errors	ENST00000370575	ensembl	human	known	74_37	in_frame_del	18.52	22	5	DEL	0.091:0.559:0.990	-	-	100157140	TCA	-	100157138	7	5	7	1	0	1	0	1	0	0	0	0	12912	1550	54	0	1200	0	PYROXD2	10	100157138	In_Frame_Del	DEL	TCA	TCGA-2H-A9GL-01A-12D-A37C-09	4126833	100157138	35377609	148	2012											
GBF1	8729	genome.wustl.edu	37	chr10	104129939	104129939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccctctctagcaatgtgaCccagaaaaaatgatcacaga	15	8	7	11	0	2	4	1	2	1	2	3	4	2	4	2	0	2	1	2	0	5	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:104129939C>A	ENST00000369983.3	+	27	3605	c.3345C>A	c.(3343-3345)gaC>gaA	p.D1115E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1115					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGCAATGTGACCCAGAAAAAA	0.498																																																	0													208	229	222					10																	104129939		2203	4300	6503	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3345C>A	10.37:g.104129939C>A	ENSP00000359000:p.Asp1115Glu		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.D1115E	ENST00000369983.3	37	c.3345	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754365	0.31046	.	.	ENSG00000107862	ENST00000369983	T	0.68181	-0.31	5.46	2.56	0.30785	.	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	L	0.44542	1.39	0.47584	D	0.999465	P;P;P	0.49961	0.734;0.558;0.93	B;B;P	0.46110	0.218;0.165;0.504	T	0.50701	-0.8797	10	0.10636	T	0.68	-22.1952	6.8885	0.24216	0.0:0.45:0.0:0.55	.	1115;1115;1115	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	E	1115	ENSP00000359000:D1115E	ENSP00000359000:D1115E	D	+	3	2	GBF1	104119929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.968000	0.29357	0.384000	0.24942	0.655000	0.94253	GAC	GBF1	-	NULL	ENSG00000107862		0.498	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1		0	51	0	C			104129939	1			no_errors	ENST00000369983	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	104129939	C	A	104129939	3	1	7	1	0	0	0	0	1	0	0	0	6296	506	18	3	3447	3	GBF1	10	104129939	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	3972801	104129939	31404808	149	2013											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118236172	118236172	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgtttacagtggaaaacTtgagccaggcatgacttaca	12	13	9	7	0	0	2	0	2	0	0	0	3	0	3	1	2	4	2	1	2	4	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:118236172T>G	ENST00000369230.3	+	11	1327	c.1181T>G	c.(1180-1182)cTt>cGt	p.L394R		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	394	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.L394R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGTGGAAAACTTGAGCCAGGC	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)											105	103	104					10																	118236172		2203	4300	6503	SO:0001583	missense	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1181T>G	10.37:g.118236172T>G	ENSP00000358232:p.Leu394Arg			Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.L394R	ENST00000369230.3	37	c.1181	CCDS31292.1	10	.	.	.	.	.	.	.	.	.	.	T	12.46	1.943168	0.34283	.	.	ENSG00000203837	ENST00000369230	T	0.79554	-1.28	4.13	4.13	0.48395	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.332224	0.21185	N	0.078747	D	0.88698	0.6507	M	0.80616	2.505	0.29351	N	0.865356	D	0.89917	1.0	D	0.78314	0.991	D	0.84160	0.0428	10	0.87932	D	0	.	11.3315	0.49479	0.0:0.0:0.0:1.0	.	394	Q17RR3	LIPR3_HUMAN	R	394	ENSP00000358232:L394R	ENSP00000358232:L394R	L	+	2	0	PNLIPRP3	118226162	0.173000	0.23056	0.633000	0.29310	0.140000	0.21249	3.790000	0.55461	1.819000	0.53055	0.533000	0.62120	CTT	PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.358	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0	52	0	T	XM_058404		118236172	1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.917	G	G	118236172	T	G	118236172	3	3	7	1	0	0	0	0	1	0	0	0	12191	1609	56	4	1223	4	PNLIPRP3	10	118236172	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	14106233	118236172	17298575	150	2014											
HSPA12A	259217	genome.wustl.edu	37	chr10	118460528	118460528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgggatccaggtcatGgtaaaagtccctggcggcat	9	10	12	10	1	2	0	2	0	0	0	4	1	4	1	2	5	0	2	2	5	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:118460528G>A	ENST00000369209.3	-	4	471	c.367C>T	c.(367-369)Cat>Tat	p.H123Y		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	123						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCCAGGTCATGGTAAAAGTCC	0.567																																																	0													84	92	89					10																	118460528		2094	4227	6321	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.367C>T	10.37:g.118460528G>A	ENSP00000358211:p.His123Tyr			Missense_Mutation	SNP	NULL	p.H123Y	ENST00000369209.3	37	c.367	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884117	0.91814	.	.	ENSG00000165868	ENST00000369209	T	0.03745	3.82	5.62	5.62	0.85841	.	0.044901	0.85682	D	0.000000	T	0.15739	0.0379	M	0.76002	2.32	0.80722	D	1	D	0.53619	0.961	P	0.62298	0.9	T	0.16748	-1.0392	10	0.12430	T	0.62	.	19.6599	0.95861	0.0:0.0:1.0:0.0	.	123	O43301	HS12A_HUMAN	Y	123	ENSP00000358211:H123Y	ENSP00000358211:H123Y	H	-	1	0	HSPA12A	118450518	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	9.749000	0.98871	2.652000	0.90054	0.655000	0.94253	CAT	HSPA12A	-	NULL	ENSG00000165868		0.567	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0	40	0	G	NM_025015		118460528	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	A	A	118460528	G	A	118460528	3	1	7	1	0	0	0	0	1	0	0	0	7431	1348	47	3	1696	3	HSPA12A	10	118460528	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	224356	118460528	17074219	151	2015											
KIAA1598	57698	genome.wustl.edu	37	chr10	118681020	118681020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttccggatcatggacaTgagggatctttgggagaaag	10	11	14	6	2	2	2	1	1	1	1	4	6	3	5	1	4	0	1	1	4	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:118681020T>A	ENST00000355371.4	-	12	1617	c.1120A>T	c.(1120-1122)Atg>Ttg	p.M374L	KIAA1598_ENST00000392901.4_Missense_Mutation_p.M314L|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000260777.10_Missense_Mutation_p.M374L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.M374L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	374					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		ATCATGGACATGAGGGATCTT	0.418																																																	0													111	95	100					10																	118681020		2203	4300	6503	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1120A>T	10.37:g.118681020T>A	ENSP00000347532:p.Met374Leu		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.M374L	ENST00000355371.4	37	c.1120	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226787	0.39399	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	.	.	.	5.42	5.42	0.78866	.	0.309654	0.38837	N	0.001549	T	0.58935	0.2157	L	0.41710	1.295	0.35983	D	0.836115	P;B;B	0.38863	0.65;0.257;0.42	P;P;B	0.54140	0.743;0.557;0.099	T	0.57682	-0.7769	9	0.02654	T	1	-18.7396	13.5138	0.61528	0.0:0.0:0.0:1.0	.	374;374;344	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	L	374;374;374;314	.	ENSP00000260777:M374L	M	-	1	0	KIAA1598	118671010	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.518000	0.60510	2.174000	0.68829	0.533000	0.62120	ATG	KIAA1598	-	NULL	ENSG00000187164		0.418	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		-	0	37	0	T	NM_018330		118681020	-1	tier1	-	no_errors	ENST00000392903	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A	A	118681020	T	A	118681020	3	1	7	1	0	0	0	0	1	0	0	0	8273	1464	51	5	799	5	KIAA1598	10	118681020	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	220492	118681020	16853727	152	2016											
CHST15	51363	genome.wustl.edu	37	chr10	125801922	125801922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccagataatcttccaCgggatagcggtctcgcagcc	9	8	12	12	3	2	1	0	0	2	1	5	3	4	2	3	3	2	1	3	3	2	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:125801922C>T	ENST00000346248.5	-	4	1570	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	CHST15_ENST00000435907.1_Missense_Mutation_p.V310M|CHST15_ENST00000421115.1_Missense_Mutation_p.V310M	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	310					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TAATCTTCCACGGGATAGCGG	0.522																																																	0													115	100	105					10																	125801922		2203	4300	6503	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.928G>A	10.37:g.125801922C>T	ENSP00000333947:p.Val310Met		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.V310M	ENST00000346248.5	37	c.928	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944445	0.73672	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56444	0.46;0.46;0.46	5.72	5.72	0.89469	Sulfotransferase domain (1);	0.062848	0.64402	D	0.000005	T	0.59783	0.2219	L	0.46157	1.445	0.40190	D	0.977394	D;D	0.64830	0.994;0.993	P;P	0.50934	0.654;0.64	T	0.63229	-0.6684	10	0.72032	D	0.01	-37.6261	19.8965	0.96963	0.0:1.0:0.0:0.0	.	310;310	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	M	310	ENSP00000333947:V310M;ENSP00000402394:V310M;ENSP00000412477:V310M	ENSP00000333947:V310M	V	-	1	0	CHST15	125791912	0.996000	0.38824	0.991000	0.47740	0.823000	0.46562	3.395000	0.52558	2.717000	0.92951	0.655000	0.94253	GTG	CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.522	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1		0	48	0	C	NM_015892		125801922	-1			no_errors	ENST00000346248	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.994	T	T	125801922	C	T	125801922	3	4	7	1	0	0	0	0	1	0	0	0	3410	536	19	1	777	1	CHST15	10	125801922	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	7120902	125801922	9732825	153	2017											
C10orf90	118611	genome.wustl.edu	37	chr10	128114440	128114440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcctgtggttagaccGcattcctttgaaggagctgg	7	10	15	9	1	0	2	0	1	0	1	1	3	1	3	3	4	2	4	3	4	2	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:128114440G>A	ENST00000284694.7	-	9	2213	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	C10orf90_ENST00000544758.1_Missense_Mutation_p.A795V|C10orf90_ENST00000454341.1_Missense_Mutation_p.A601V|C10orf90_ENST00000480379.1_Missense_Mutation_p.A102V|C10orf90_ENST00000356858.3_3'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	698	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A698V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGGTTAGACCGCATTCCTTTG	0.483																																																	1	Substitution - Missense(1)	prostate(1)											105	98	100					10																	128114440		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.2093C>T	10.37:g.128114440G>A	ENSP00000284694:p.Ala698Val		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.A795V	ENST00000284694.7	37	c.2384	CCDS31310.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398313|4.398313	0.83120|0.83120	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758|ENST00000424927	T;T;T|.	0.22134|.	1.97;2.06;1.98|.	5.58|5.58	4.63|4.63	0.57726|0.57726	.|.	0.000000|.	0.43919|.	D|.	0.000505|.	T|T	0.37812|0.37812	0.1017|0.1017	N|N	0.08118|0.08118	0|0	0.38199|0.38199	D|D	0.94014|0.94014	D;D;D|.	0.69078|.	0.997;0.996;0.99|.	P;P;P|.	0.55508|.	0.766;0.777;0.665|.	T|T	0.30446|0.30446	-0.9978|-0.9978	10|5	0.52906|.	T|.	0.07|.	-21.9319|-21.9319	13.9111|13.9111	0.63866|0.63866	0.0:0.0:0.8492:0.1508|0.0:0.0:0.8492:0.1508	.|.	795;698;601|.	F5GZL2;Q96M02;Q96M02-2|.	.;CJ090_HUMAN;.|.	V|W	651;698;601;795|241	ENSP00000284694:A698V;ENSP00000398786:A601V;ENSP00000444369:A795V|.	ENSP00000284694:A698V|.	A|R	-|-	2|1	0|2	C10orf90|C10orf90	128104430|128104430	0.993000|0.993000	0.37304|0.37304	0.072000|0.072000	0.20136|0.20136	0.343000|0.343000	0.28985|0.28985	4.314000|4.314000	0.59166|0.59166	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GCG|CGG	C10orf90	-	NULL	ENSG00000154493		0.483	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0	97	0	G	NM_001004298		128114440	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.080	A	A	128114440	G	A	128114440	3	1	7	1	0	0	0	0	1	0	0	0	1628	1087	38	1	10	1	C10orf90	10	128114440	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	2312518	128114440	7420307	154	2018											
PTPRE	5791	genome.wustl.edu	37	chr10	129866416	129866416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacggctgcaaagcccccagGctggtctcacagctgcactt	8	7	11	15	1	1	0	1	0	1	0	2	1	1	0	2	3	4	5	2	3	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:129866416G>T	ENST00000254667.3	+	12	1152	c.873G>T	c.(871-873)agG>agT	p.R291S	PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Missense_Mutation_p.R233S|PTPRE_ENST00000419012.2_Missense_Mutation_p.R291S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	291	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AAGCCCCCAGGCTGGTCTCAC	0.597																																					Colon(52;977 1184 20575 41685)												0													44	45	44					10																	129866416		2203	4300	6503	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.873G>T	10.37:g.129866416G>T	ENSP00000254667:p.Arg291Ser		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R291S	ENST00000254667.3	37	c.873	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504002	0.44558	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.15017	2.46;2.46;2.46	3.88	2.98	0.34508	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.64402	D	0.000001	T	0.51449	0.1675	H	0.96208	3.785	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;1.0;1.0	T	0.62402	-0.6862	10	0.87932	D	0	.	10.0372	0.42135	0.1689:0.0:0.8311:0.0	.	269;291;233;291	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	S	291;269;291;233	ENSP00000254667:R291S;ENSP00000402337:R291S;ENSP00000303350:R233S	ENSP00000254667:R291S	R	+	3	2	PTPRE	129756406	1.000000	0.71417	0.599000	0.28851	0.386000	0.30323	1.449000	0.35123	0.952000	0.37798	-0.343000	0.07986	AGG	PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.597	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	-	0	53	0	G			129866416	1	tier1	-	no_errors	ENST00000254667	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	T	T	129866416	G	T	129866416	3	4	7	1	0	0	0	0	1	0	0	0	12845	1194	42	3	950	3	PTPRE	10	129866416	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	1751976	129866416	5668331	155	2019											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133955458	133955458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacggagctgaggttccGgcagctgaccatggagtacc	9	6	16	10	2	0	3	0	2	0	1	1	6	1	5	3	5	3	5	3	5	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr10:133955458G>C	ENST00000298622.4	+	10	1646	c.1508G>C	c.(1507-1509)cGg>cCg	p.R503P		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	503						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTGAGGTTCCGGCAGCTGACC	0.607																																																	0													97	64	75					10																	133955458		2199	4294	6493	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1508G>C	10.37:g.133955458G>C	ENSP00000298622:p.Arg503Pro		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.R503P	ENST00000298622.4	37	c.1508	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645333	0.87859	.	.	ENSG00000188385	ENST00000298622	T	0.26518	1.73	3.67	3.67	0.42095	.	0.244823	0.33092	N	0.005282	T	0.47746	0.1462	M	0.64404	1.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.50285	-0.8846	10	0.49607	T	0.09	-22.0753	15.9465	0.79799	0.0:0.0:1.0:0.0	.	503	Q5VZ66	JKIP3_HUMAN	P	503	ENSP00000298622:R503P	ENSP00000298622:R503P	R	+	2	0	JAKMIP3	133805448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.251000	0.78297	2.073000	0.62155	0.561000	0.74099	CGG	JAKMIP3	-	NULL	ENSG00000188385		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0	86	0	G	NM_194303		133955458	1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	C	C	133955458	G	C	133955458	3	2	7	1	0	0	0	0	1	0	0	0	7969	1116	39	5	1546	5	JAKMIP3	10	133955458	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4089042	133955458	1579289	156	2020											
MUC6	4588	genome.wustl.edu	37	chr11	1016198	1016200	+	In_Frame_Del	DEL	AGA	AGA	-																															atggtagtagaggcagctggAgaagaaggaaaaagaggaga																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:1016198_1016200delAGA	ENST00000421673.2	-	31	6651_6653	c.6601_6603delTCT	c.(6601-6603)tctdel	p.S2201del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2201	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGCAGCTGGAGAAGAAGGAAAA	0.557																																																	0																																										SO:0001651	inframe_deletion	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6601_6603delTCT	11.37:g.1016201_1016203delAGA	ENSP00000406861:p.Ser2201del		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2201in_frame_del	ENST00000421673.2	37	c.6603_6601	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	28	0	AGA	XM_290540		1016200	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	in_frame_del	42.86	12	9	DEL	0.001:0.010:0.003	-	-	1016200	AGA	-	1016198	7	5	7	1	0	1	0	1	0	0	0	0	10018	291	11	0	728	0	MUC6	11	1016198	In_Frame_Del	DEL	AGA	TCGA-2H-A9GL-01A-12D-A37C-09		1016198	133990318	157	2021											
CTSD	1509	genome.wustl.edu	37	chr11	1782688	1782688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggatggacgtgaacttgtGcagcgggatcctgtcaacca	9	8	14	10	3	1	1	1	1	0	0	2	4	2	4	2	3	4	1	2	3	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:1782688G>A	ENST00000236671.2	-	2	211	c.79C>T	c.(79-81)Cac>Tac	p.H27Y	RP11-295K3.1_ENST00000427721.1_5'Flank|AC068580.6_ENST00000449248.1_RNA|AC068580.5_ENST00000446489.1_RNA|AC068580.1_ENST00000580120.1_RNA	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	27					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	GTGAACTTGTGCAGCGGGATC	0.662																																																	0													45	44	44					11																	1782688		2201	4299	6500	SO:0001583	missense	0			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.79C>T	11.37:g.1782688G>A	ENSP00000236671:p.His27Tyr		Q6IB57	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.H27Y	ENST00000236671.2	37	c.79	CCDS7725.1	11	.	.	.	.	.	.	.	.	.	.	g	4.809	0.150369	0.09185	.	.	ENSG00000117984	ENST00000236671;ENST00000438213	T;T	0.50548	0.74;0.74	3.82	-1.8	0.07907	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	0.698021	0.13579	N	0.377466	T	0.26159	0.0638	L	0.27053	0.805	0.23381	N	0.997799	B	0.20550	0.046	B	0.22152	0.038	T	0.19811	-1.0294	10	0.18276	T	0.48	.	4.2012	0.10467	0.2628:0.0:0.2378:0.4993	.	27	P07339	CATD_HUMAN	Y	27;12	ENSP00000236671:H27Y;ENSP00000415036:H12Y	ENSP00000236671:H27Y	H	-	1	0	CTSD	1739264	0.996000	0.38824	0.350000	0.25708	0.033000	0.12548	0.851000	0.27751	-0.489000	0.06716	-0.258000	0.10820	CAC	CTSD	-	pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom	ENSG00000117984		0.662	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	-	0	112	0	G	NM_001909		1782688	-1	tier1	-	no_errors	ENST00000236671	ensembl	human	known	74_37	missense	6.15	60	4	SNP	0.992	A	A	1782688	G	A	1782688	3	1	7	1	0	0	0	0	1	0	0	0	4041	1319	46	3	1191	3	CTSD	11	1782688	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	766490	1782688	133223828	158	2022											
OR51F1	256892	genome.wustl.edu	37	chr11	4790663	4790663	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaggcttaaggagcaaaAgtagtggcaatattagtact	16	9	12	4	0	0	1	0	0	0	1	0	3	0	2	0	3	2	5	0	3	8	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:4790663A>C	ENST00000380383.1	-	1	505	c.506T>G	c.(505-507)cTt>cGt	p.L169R	OR51F1_ENST00000343430.3_Missense_Mutation_p.L162R|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L162R(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGGAGCAAAAGTAGTGGCAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											119	118	119					11																	4790663		2201	4298	6499	SO:0001583	missense	0			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.506T>G	11.37:g.4790663A>C	ENSP00000369744:p.Leu169Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L169R	ENST00000380383.1	37	c.506		11	.	.	.	.	.	.	.	.	.	.	A	8.756	0.922562	0.18056	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00169	8.63;8.63	5.03	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.270315	0.26654	N	0.023197	T	0.00608	0.0020	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27434	-1.0074	10	0.62326	D	0.03	.	10.171	0.42911	0.8506:0.0:0.0:0.1494	.	169	A6NGY5	O51F1_HUMAN	R	162;169	ENSP00000345163:L162R;ENSP00000369744:L169R	ENSP00000345163:L162R	L	-	2	0	OR51F1	4747239	0.001000	0.12720	0.044000	0.18714	0.003000	0.03518	0.788000	0.26872	0.916000	0.36871	0.533000	0.62120	CTT	OR51F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188069		0.398	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding		-	0	31	0	A	NM_001004752		4790663	-1	tier1	-	no_errors	ENST00000380383	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.102	C	C	4790663	A	C	4790663	3	2	7	1	0	0	0	0	1	0	0	0	11135	72	3	4	456	4	OR51F1	11	4790663	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	3007975	4790663	130215853	159	2023											
HBG2	3048	genome.wustl.edu	37	chr11	5274579	5274579	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggaagcctgcacctcaggGgtgaattctttgccgaaatg	10	9	12	10	1	2	1	1	1	1	0	2	3	2	2	3	3	3	1	3	3	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:5274579G>C	ENST00000380259.2	-	8	1612	c.372C>G	c.(370-372)acC>acG	p.T124T	HBG2_ENST00000380252.1_Silent_p.T114T|HBG2_ENST00000336906.4_Silent_p.T124T			P69892	HBG2_HUMAN	hemoglobin, gamma G	124					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACCTCAGGGGTGAATTCTT	0.517																																																	0													74	65	68					11																	5274579		2201	4298	6499	SO:0001819	synonymous_variant	0			BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.372C>G	11.37:g.5274579G>C			A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.T124	ENST00000380259.2	37	c.372	CCDS7755.1	11																																																																																			HBG2	-	superfamily_Globin-like,pfscan_Globin,prints_Myoglobin	ENSG00000196565		0.517	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG2	HGNC	protein_coding	OTTHUMT00000142967.2	-	0	62	0	G	NM_000184		5274579	-1	tier1	-	no_errors	ENST00000336906	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.625	C	C	5274579	G	C	5274579	2	2	7	1	0	0	0	0	0	0	0	1	7010	1219	43	5		5	HBG2	11	5274579	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	483916	5274579	129731937	160	2024											
LUZP2	338645	genome.wustl.edu	37	chr11	24759804	24759804	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggaggccctgcaaaatCagcttaaggagacatcagag	14	7	11	9	0	3	2	3	0	0	2	3	4	3	3	1	3	2	2	1	3	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:24759804C>T	ENST00000336930.6	+	4	355	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	LUZP2_ENST00000533227.1_Nonsense_Mutation_p.Q11*|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	97						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCTGCAAAATCAGCTTAAGGA	0.373																																																	0													77	79	79					11																	24759804		2203	4300	6503	SO:0001587	stop_gained	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.289C>T	11.37:g.24759804C>T	ENSP00000336817:p.Gln97*		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Nonsense_Mutation	SNP	NULL	p.Q97*	ENST00000336930.6	37	c.289	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.446823	0.96205	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	.	.	.	5.77	5.77	0.91146	.	0.069038	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-18.5682	17.4594	0.87616	0.0:1.0:0.0:0.0	.	.	.	.	X	97;97;11	.	ENSP00000336817:Q97X	Q	+	1	0	LUZP2	24716380	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.098000	0.71458	2.725000	0.93324	0.655000	0.94253	CAG	LUZP2	-	NULL	ENSG00000187398		0.373	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0	77	0	C	NM_001009909		24759804	1	tier1	-	no_errors	ENST00000336930	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	24759804	C	T	24759804	4	4	7	1	0	0	0	0	0	1	0	0	9122	827	29	3	303	3	LUZP2	11	24759804	Nonsense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	19485225	24759804	110246712	161	2025											
C11orf41	25758	genome.wustl.edu	37	chr11	33565560	33565560	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagacttccaaacagctgaAgttgcatattactcacccac	14	9	6	12	0	1	2	1	1	0	1	2	3	2	2	2	0	4	3	2	0	4	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:33565560A>C	ENST00000321505.4	+	1	1740	c.1560A>C	c.(1558-1560)gaA>gaC	p.E520D	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E520D|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E520D			Q6ZVL6	K154L_HUMAN	KIAA1549-like	520						integral component of membrane (GO:0016021)											AAACAGCTGAAGTTGCATATT	0.498																																																	0													148	148	148					11																	33565560		2026	4202	6228	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.1560A>C	11.37:g.33565560A>C	ENSP00000315295:p.Glu520Asp		B0QYU0	Missense_Mutation	SNP	NULL	p.E520D	ENST00000321505.4	37	c.1560	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	A	4.642	0.119332	0.08881	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.77	-0.443	0.12249	.	1.037580	0.07609	N	0.924951	T	0.29914	0.0748	L	0.57536	1.79	0.09310	N	1	B;P	0.41265	0.067;0.744	B;B	0.39027	0.025;0.288	T	0.23154	-1.0196	9	0.14656	T	0.56	-2.1311	6.1379	0.20243	0.4533:0.1268:0.4199:0.0	.	520;520	E9PAT2;Q6ZVL6-2	.;.	D	520;520;520;360	.	ENSP00000265654:E520D	E	+	3	2	C11orf41	33522136	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.214000	0.09292	-0.108000	0.12066	-0.499000	0.04595	GAA	KIAA1549L	-	NULL	ENSG00000110427		0.498	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0	51	0	A	NM_012194		33565560	1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	38.57	43	27	SNP	0.000	C	C	33565560	A	C	33565560	3	2	7	1	0	0	0	0	1	0	0	0	1645	69	3	4	1562	4	C11orf41	11	33565560	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	8805756	33565560	101440956	162	2026											
RAG2	5897	genome.wustl.edu	37	chr11	36615296	36615296	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtacaccacattaatGgaatgaccatatctggcttc	11	11	8	11	1	1	1	0	1	1	0	2	2	1	2	2	3	1	3	2	3	4	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:36615296G>T	ENST00000311485.3	-	2	584	c.423C>A	c.(421-423)tcC>tcA	p.S141S	C11orf74_ENST00000534635.1_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000347206.4_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	141					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CCACATTAATGGAATGACCAT	0.428									Familial Hemophagocytic Lymphohistiocytosis																																								0													139	130	133					11																	36615296		2202	4298	6500	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.423C>A	11.37:g.36615296G>T			A8K9E9|Q8TBL4	Silent	SNP	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD	p.S141	ENST00000311485.3	37	c.423	CCDS7903.1	11																																																																																			RAG2	-	pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller	ENSG00000175097		0.428	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG2	HGNC	protein_coding	OTTHUMT00000389536.1	-	0	29	0	G	NM_000536		36615296	-1	tier1	-	no_errors	ENST00000311485	ensembl	human	known	74_37	silent	37.50	10	6	SNP	1.000	T	T	36615296	G	T	36615296	2	4	7	1	0	0	0	0	0	0	0	1	13050	1335	47	3		3	RAG2	11	36615296	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	3049736	36615296	98391220	163	2027											
LRRC4C	57689	genome.wustl.edu	37	chr11	40137493	40137493	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaccattgaaagccccaAtttcaatggttctgatatgg	12	11	8	10	0	2	3	1	2	1	1	2	3	2	3	4	2	1	1	4	2	4	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:40137493A>C	ENST00000278198.2	-	2	2313	c.350T>G	c.(349-351)aTt>aGt	p.I117S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I117S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I117S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I117S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	117					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAAAGCCCCAATTTCAATGGT	0.423																																																	0													70	70	70					11																	40137493		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.350T>G	11.37:g.40137493A>C	ENSP00000278198:p.Ile117Ser		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I117S	ENST00000278198.2	37	c.350	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435590	0.25813	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04234	3.67;3.67;3.67;3.67	5.73	5.73	0.89815	.	0.183385	0.42821	D	0.000650	T	0.02418	0.0074	N	0.01668	-0.77	0.51767	D	0.999933	B	0.28082	0.2	B	0.33254	0.16	T	0.55289	-0.8164	10	0.09084	T	0.74	.	15.1921	0.73053	1.0:0.0:0.0:0.0	.	117	Q9HCJ2	LRC4C_HUMAN	S	117	ENSP00000278198:I117S;ENSP00000436976:I117S;ENSP00000437132:I117S;ENSP00000434761:I117S	ENSP00000278198:I117S	I	-	2	0	LRRC4C	40094069	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.371000	0.79600	2.185000	0.69588	0.477000	0.44152	ATT	LRRC4C	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000148948		0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	44	0	A	NM_020929		40137493	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.991	C	C	40137493	A	C	40137493	3	2	7	1	0	0	0	0	1	0	0	0	9043	101	4	4	1576	4	LRRC4C	11	40137493	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	3522197	40137493	94869023	164	2028											
OR4A15	81328	genome.wustl.edu	37	chr11	55136271	55136271	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgactgtagttctaacTtttataactcccatgctgaa	11	15	5	10	0	1	2	0	2	1	0	3	2	3	2	2	0	3	3	2	0	5	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:55136271T>G	ENST00000314706.3	+	1	912	c.912T>G	c.(910-912)acT>acG	p.T304T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TAGTTCTAACTTTTATAACTC	0.383																																																	0													204	207	206					11																	55136271		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.912T>G	11.37:g.55136271T>G			Q6IFL4|Q96R65	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T304	ENST00000314706.3	37	c.912	CCDS31500.1	11																																																																																			OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181958		0.383	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1		0	66	0	T	NM_001005275		55136271	1			no_errors	ENST00000314706	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.000	G	G	55136271	T	G	55136271	2	3	7	1	0	0	0	0	0	0	0	1	11079	1596	56	4		4	OR4A15	11	55136271	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	14998778	55136271	79870245	165	2029											
OR4C16	219428	genome.wustl.edu	37	chr11	55340225	55340225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggccatttgtgcagtgAgttatgtcatgctaatattc	8	15	12	6	0	1	1	1	1	0	0	2	1	1	1	1	2	2	3	1	2	3	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:55340225A>G	ENST00000314634.3	+	1	622	c.622A>G	c.(622-624)Agt>Ggt	p.S208G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTGTGCAGTGAGTTATGTCAT	0.433																																																	0													115	101	106					11																	55340225		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.622A>G	11.37:g.55340225A>G	ENSP00000324913:p.Ser208Gly		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S208G	ENST00000314634.3	37	c.622	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	A	6.054	0.378255	0.11466	.	.	ENSG00000181935	ENST00000314634	T	0.38240	1.15	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	M	0.91561	3.22	0.09310	N	1	B	0.18741	0.03	B	0.30495	0.116	T	0.50013	-0.8877	10	0.45353	T	0.12	.	8.8665	0.35289	0.8109:0.1891:0.0:0.0	.	208	Q8NGL9	OR4CG_HUMAN	G	208	ENSP00000324913:S208G	ENSP00000324913:S208G	S	+	1	0	OR4C16	55096801	0.000000	0.05858	0.430000	0.26722	0.213000	0.24496	-0.936000	0.03946	2.097000	0.63578	0.448000	0.29417	AGT	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181935		0.433	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	91	0	A	NM_001004701		55340225	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	35.71	45	25	SNP	0.068	G	G	55340225	A	G	55340225	3	3	7	1	0	0	0	0	1	0	0	0	11088	304	11	4	624	4	OR4C16	11	55340225	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	203954	55340225	79666291	166	2030											
OR8H2	390151	genome.wustl.edu	37	chr11	55873364	55873364	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttttatactattgtgatTcccgtgctgaatccactcat	8	18	6	9	1	1	2	1	2	0	0	3	2	3	2	2	0	2	2	2	0	4	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:55873364T>G	ENST00000313503.1	+	1	846	c.846T>G	c.(844-846)atT>atG	p.I282M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTATTGTGATTCCCGTGCTGA	0.353										HNSCC(53;0.14)																																							0													78	87	84					11																	55873364		2201	4295	6496	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.846T>G	11.37:g.55873364T>G	ENSP00000323982:p.Ile282Met		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I282M	ENST00000313503.1	37	c.846	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	t	9.190	1.025784	0.19512	.	.	ENSG00000181767	ENST00000313503	T	0.37752	1.18	3.58	-1.14	0.09741	GPCR, rhodopsin-like superfamily (1);	0.117143	0.39083	N	0.001463	T	0.42108	0.1188	M	0.75085	2.285	0.19300	N	0.99997	P	0.49559	0.925	P	0.52672	0.706	T	0.31503	-0.9941	10	0.87932	D	0	.	4.488	0.11799	0.2192:0.4367:0.0:0.3442	.	282	Q8N162	OR8H2_HUMAN	M	282	ENSP00000323982:I282M	ENSP00000323982:I282M	I	+	3	3	OR8H2	55629940	0.000000	0.05858	0.956000	0.39512	0.061000	0.15899	-3.078000	0.00615	-0.016000	0.14127	-0.503000	0.04515	ATT	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181767		0.353	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	-	0	75	0	T	NM_001005200		55873364	1	tier1	-	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	38.60	35	22	SNP	0.163	G	G	55873364	T	G	55873364	3	3	7	1	0	0	0	0	1	0	0	0	11277	1771	62	4	848	4	OR8H2	11	55873364	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	533139	55873364	79133152	167	2031											
LRRC32	2615	genome.wustl.edu	37	chr11	76371138	76371138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaggaccatcagcccgttgCcctgcagtgccaggacctcc	7	6	11	17	1	1	0	1	0	0	0	2	2	2	2	6	2	4	3	6	2	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:76371138C>T	ENST00000407242.2	-	3	1741	c.1499G>A	c.(1498-1500)gGc>gAc	p.G500D	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.G500D|LRRC32_ENST00000260061.5_Missense_Mutation_p.G500D|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	500					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGCCCGTTGCCCTGCAGTGC	0.647																																																	0													30	30	30					11																	76371138		2200	4292	6492	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1499G>A	11.37:g.76371138C>T	ENSP00000384126:p.Gly500Asp		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.G500D	ENST00000407242.2	37	c.1499	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702415	0.48307	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04809	3.55;3.55;3.55	4.4	3.46	0.39613	.	0.120017	0.56097	D	0.000030	T	0.05777	0.0151	N	0.14661	0.345	0.58432	D	0.999998	D	0.61697	0.99	P	0.54889	0.763	T	0.56583	-0.7955	10	0.16420	T	0.52	.	12.6831	0.56932	0.0:0.9178:0.0:0.0822	.	500	Q14392	LRC32_HUMAN	D	500	ENSP00000260061:G500D;ENSP00000384126:G500D;ENSP00000385766:G500D	ENSP00000260061:G500D	G	-	2	0	LRRC32	76048786	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	4.428000	0.59894	2.279000	0.76181	0.491000	0.48974	GGC	LRRC32	-	NULL	ENSG00000137507		0.647	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	32	0	C	NM_005512		76371138	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.997	T	T	76371138	C	T	76371138	3	4	7	1	0	0	0	0	1	0	0	0	9022	739	26	3	493	3	LRRC32	11	76371138	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	20497774	76371138	58635378	168	2032											
DLG2	1740	genome.wustl.edu	37	chr11	84245625	84245625	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taactgaccttcagaggagaAatatgagactgcaagacata	17	8	9	7	0	1	5	1	2	0	4	1	7	1	5	1	1	2	1	1	1	5	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:84245625A>C	ENST00000532653.1	-	2	494	c.192T>G	c.(190-192)atT>atG	p.I64M	DLG2_ENST00000376104.2_Missense_Mutation_p.I169M|DLG2_ENST00000398309.2_Missense_Mutation_p.I64M|DLG2_ENST00000543673.1_Missense_Mutation_p.I169M|DLG2_ENST00000524982.1_Missense_Mutation_p.I64M			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCAGAGGAGAAATATGAGACT	0.413																																																	0													159	151	153					11																	84245625		1880	4099	5979	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.192T>G	11.37:g.84245625A>C	ENSP00000435849:p.Ile64Met		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.I169M	ENST00000532653.1	37	c.507		11	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551319	0.65311	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.88	1.27	0.21489	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);PDZ/DHR/GLGF (1);	0.000000	0.52532	D	0.000080	T	0.63850	0.2546	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.62365	0.991;0.985;0.988;0.991	D;D;D;D	0.75484	0.986;0.924;0.977;0.986	T	0.60707	-0.7210	9	.	.	.	.	5.6365	0.17540	0.3973:0.0:0.4582:0.1446	.	64;64;169;64	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	M	64;169;169;64;64;169	ENSP00000381355:I64M;ENSP00000365272:I169M;ENSP00000441994:I169M;ENSP00000432894:I64M;ENSP00000435849:I64M	.	I	-	3	3	DLG2	83923273	0.995000	0.38212	1.000000	0.80357	0.985000	0.73830	0.417000	0.21214	0.554000	0.29061	0.533000	0.62120	ATT	DLG2	-	pfam_MAGUK_PEST_N,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.413	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	47	0	A	NM_001364		84245625	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.996	C	C	84245625	A	C	84245625	3	2	7	1	0	0	0	0	1	0	0	0	4569	10	1	4	2667	4	DLG2	11	84245625	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	7874487	84245625	50760891	169	2033											
GRM5	2915	genome.wustl.edu	37	chr11	88583156	88583156	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccgtcatgccctcacagaAgcaggccaccacccgggcct	9	4	9	19	2	2	1	2	0	0	1	2	1	2	1	6	2	2	1	6	2	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:88583156A>C	ENST00000305447.4	-	2	978	c.829T>G	c.(829-831)Ttc>Gtc	p.F277V	GRM5_ENST00000305432.5_Missense_Mutation_p.F277V|GRM5_ENST00000393297.1_Missense_Mutation_p.F277V|GRM5_ENST00000418177.2_Missense_Mutation_p.F277V|GRM5_ENST00000455756.2_Missense_Mutation_p.F277V	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	277					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCCTCACAGAAGCAGGCCACC	0.532																																																	0													67	67	67					11																	88583156		2201	4299	6500	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.829T>G	11.37:g.88583156A>C	ENSP00000306138:p.Phe277Val		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.F277V	ENST00000305447.4	37	c.829	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575111	0.86542	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.91459	3.21	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.95033	0.8171	9	.	.	.	.	15.4226	0.75025	1.0:0.0:0.0:0.0	.	277;277	P41594-2;P41594	.;GRM5_HUMAN	V	277	ENSP00000402912:F277V;ENSP00000405690:F277V;ENSP00000305905:F277V;ENSP00000306138:F277V;ENSP00000376975:F277V	.	F	-	1	0	GRM5	88222804	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.545000	0.90657	2.046000	0.60703	0.460000	0.39030	TTC	GRM5	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000168959		0.532	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	-	0	80	0	A	NM_000842		88583156	-1	tier1	-	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	41.56	45	32	SNP	1.000	C	C	88583156	A	C	88583156	3	2	7	1	0	0	0	0	1	0	0	0	6827	72	3	4	2841	4	GRM5	11	88583156	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	4337531	88583156	46423360	170	2034											
FAT3	120114	genome.wustl.edu	37	chr11	92498156	92498156	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgaccttcgatgagccgTtttataacttcacagtcatg	10	14	7	10	2	2	2	2	2	0	0	3	3	2	2	2	0	2	1	2	0	2	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:92498156T>G	ENST00000298047.6	+	5	4113	c.4096T>G	c.(4096-4098)Ttt>Gtt	p.F1366V	FAT3_ENST00000409404.2_Missense_Mutation_p.F1366V|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.F1216V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1366	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGATGAGCCGTTTTATAACTT	0.498										TCGA Ovarian(4;0.039)																																							0													122	120	121					11																	92498156		1898	4106	6004	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4096T>G	11.37:g.92498156T>G	ENSP00000298047:p.Phe1366Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F1366V	ENST00000298047.6	37	c.4096		11	.	.	.	.	.	.	.	.	.	.	T	12.31	1.899699	0.33535	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.59638	0.25;0.25;0.25	5.97	5.97	0.96955	.	.	.	.	.	T	0.48874	0.1524	L	0.31804	0.96	0.80722	D	1	P	0.49783	0.928	B	0.44108	0.441	T	0.41233	-0.9520	9	0.17369	T	0.5	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	1366	Q8TDW7-3	.	V	1366;1366;1216	ENSP00000298047:F1366V;ENSP00000387040:F1366V;ENSP00000432586:F1216V	ENSP00000298047:F1366V	F	+	1	0	FAT3	92137804	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	5.649000	0.67936	2.288000	0.76882	0.533000	0.62120	TTT	FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.498	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	31	0	T	NM_001008781		92498156	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	46.43	15	13	SNP	0.987	G	G	92498156	T	G	92498156	3	3	7	1	0	0	0	0	1	0	0	0	5713	1725	60	4	4114	4	FAT3	11	92498156	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	3915000	92498156	42508360	171	2035											
MTNR1B	4544	genome.wustl.edu	37	chr11	92714995	92714995	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcacccagtacacggcGgcagtggtggtcatccactt	8	7	12	14	2	1	0	1	0	0	0	2	0	2	0	3	4	2	3	3	4	1	2	rs200681545	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:92714995G>T	ENST00000257068.2	+	2	612	c.606G>T	c.(604-606)gcG>gcT	p.A202A		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	202					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGTACACGGCGGCAGTGGTGG	0.607																																																	0													62	59	60					11																	92714995		2201	4298	6499	SO:0001819	synonymous_variant	0			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.606G>T	11.37:g.92714995G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.A202	ENST00000257068.2	37	c.606	CCDS8290.1	11																																																																																			MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn	ENSG00000134640		0.607	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1		0	44	0	G			92714995	1			no_errors	ENST00000257068	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.000	T	T	92714995	G	T	92714995	2	4	7	1	0	0	0	0	0	0	0	1	9990	1103	39	2		2	MTNR1B	11	92714995	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	216839	92714995	42291521	172	2036											
NCAM1	4684	genome.wustl.edu	37	chr11	113104002	113104002	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtggagagcagttggtgaAgaagtatggcattccaagtg	12	9	16	4	0	0	3	0	1	0	2	1	5	1	3	1	3	1	4	1	3	4	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:113104002A>C	ENST00000533760.1	+	12	1871	c.1272A>C	c.(1270-1272)gaA>gaC	p.E424D	NCAM1_ENST00000316851.7_Missense_Mutation_p.E542D|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.E551D	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	552	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAGTTGGTGAAGAAGTATGGC	0.522																																																	0													81	85	84					11																	113104002		2092	4215	6307	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1272A>C	11.37:g.113104002A>C	ENSP00000473281:p.Glu424Asp		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.E542D	ENST00000533760.1	37	c.1626		11	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451819	0.43531	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.57107	0.42;0.42	5.84	1.56	0.23342	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.317042	0.29233	U	0.012752	T	0.42562	0.1208	.	.	.	0.80722	D	1	B;B;B;B	0.28760	0.221;0.15;0.18;0.051	B;B;B;B	0.28709	0.054;0.054;0.09;0.093	T	0.24870	-1.0148	9	0.49607	T	0.09	-27.701	10.8396	0.46706	0.4113:0.0:0.5887:0.0	.	552;542;552;542	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	D	424;551;542	ENSP00000384055:E551D;ENSP00000318472:E542D	ENSP00000318472:E542D	E	+	3	2	NCAM1	112609212	0.995000	0.38212	0.990000	0.47175	0.913000	0.54294	0.297000	0.19101	0.006000	0.14734	0.533000	0.62120	GAA	NCAM1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149294		0.522	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2		0	40	0	A	NM_000615		113104002	1			no_errors	ENST00000316851	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.998	C	C	113104002	A	C	113104002	3	2	7	1	0	0	0	0	1	0	0	0	10241	69	3	4	1707	4	NCAM1	11	113104002	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	20389007	113104002	21902514	173	2037											
FAM55B	120406	genome.wustl.edu	37	chr11	114577404	114577404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccattgaacgtctattcTtgcgaagcccggagaccaag	11	8	11	11	3	2	2	0	1	2	1	2	4	2	2	3	2	3	0	3	2	4	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:114577404T>C	ENST00000389586.4	+	6	1622	c.1432T>C	c.(1432-1434)Ttg>Ctg	p.L478L	NXPE2_ENST00000375475.5_Intron	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	478						integral component of membrane (GO:0016021)											ACGTCTATTCTTGCGAAGCCC	0.428																																																	0													77	64	68					11																	114577404		692	1591	2283	SO:0001819	synonymous_variant	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.1432T>C	11.37:g.114577404T>C			Q2NKI8	Silent	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.L478	ENST00000389586.4	37	c.1432	CCDS44738.1	11																																																																																			NXPE2	-	NULL	ENSG00000204361		0.428	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NXPE2	HGNC	protein_coding	OTTHUMT00000399181.1	-	0	69	0	T	NM_182495		114577404	1	tier1	-	no_errors	ENST00000389586	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.001	C	C	114577404	T	C	114577404	2	2	7	1	0	0	0	0	0	0	0	1	5607	1606	56	4		4	FAM55B	11	114577404	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	1473402	114577404	20429112	174	2038											
GRIK4	2900	genome.wustl.edu	37	chr11	120833225	120833225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattccaagcagcccagcGtgttcgtgaagagcacagag	11	8	12	10	2	0	3	0	1	0	2	2	3	1	3	2	0	4	4	2	0	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:120833225G>T	ENST00000527524.2	+	18	2388	c.2101G>T	c.(2101-2103)Gtg>Ttg	p.V701L	GRIK4_ENST00000438375.2_Missense_Mutation_p.V701L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	701					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCAGCCCAGCGTGTTCGTGAA	0.502																																																	0													76	67	70					11																	120833225		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2101G>T	11.37:g.120833225G>T	ENSP00000435648:p.Val701Leu		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V701L	ENST00000527524.2	37	c.2101	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.509480	0.96386	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.12672	2.66;2.66	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.995;0.999	T	0.01639	-1.1306	10	0.56958	D	0.05	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	701;701	A6H8K8;Q16099	.;GRIK4_HUMAN	L	701	ENSP00000435648:V701L;ENSP00000404063:V701L	ENSP00000404063:V701L	V	+	1	0	GRIK4	120338435	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.869000	0.99810	2.676000	0.91093	0.655000	0.94253	GTG	GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.502	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4		0	49	0	G	NM_014619		120833225	1			no_errors	ENST00000527524	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	120833225	G	T	120833225	3	4	7	1	0	0	0	0	1	0	0	0	6803	1145	40	2	2163	2	GRIK4	11	120833225	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	6255821	120833225	14173291	175	2039											
GRAMD1B	57476	genome.wustl.edu	37	chr11	123489864	123489864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcttagagtcccaacaaAagtaccacgatactgagctc	14	8	7	12	1	1	2	0	1	1	1	3	3	2	2	2	0	5	3	2	0	6	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:123489864A>G	ENST00000529750.1	+	19	2386	c.2059A>G	c.(2059-2061)Aag>Gag	p.K687E	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.K687E|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.K374E|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.K694E	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	687						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GTCCCAACAAAAGTACCACGA	0.527																																																	0													56	52	53					11																	123489864		1927	4123	6050	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.2059A>G	11.37:g.123489864A>G	ENSP00000436500:p.Lys687Glu		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.K687E	ENST00000529750.1	37	c.2059	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363315	0.61513	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	T;T;T;T;T	0.45668	1.93;1.92;1.92;1.92;0.89	4.79	4.79	0.61399	.	0.127081	0.49916	D	0.000131	T	0.31040	0.0784	L	0.29908	0.895	0.40006	D	0.97522	B;P;B;B	0.43287	0.354;0.802;0.278;0.382	B;B;B;B	0.36464	0.101;0.225;0.084;0.146	T	0.20907	-1.0261	10	0.48119	T	0.1	.	14.6439	0.68745	1.0:0.0:0.0:0.0	.	643;374;687;694	B7Z4N9;Q3KR37-3;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	E	694;694;687;687;647;374	ENSP00000402457:K694E;ENSP00000325628:K687E;ENSP00000436500:K687E;ENSP00000432987:K647E;ENSP00000388458:K374E	ENSP00000325628:K687E	K	+	1	0	GRAMD1B	122995074	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.558000	0.73942	1.916000	0.55485	0.459000	0.35465	AAG	GRAMD1B	-	NULL	ENSG00000023171		0.527	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0	37	0	A	XM_370660		123489864	1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	G	G	123489864	A	G	123489864	3	3	7	1	0	0	0	0	1	0	0	0	6775	15	1	4	2133	4	GRAMD1B	11	123489864	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	2656639	123489864	11516652	176	2040											
OR8D2	283160	genome.wustl.edu	37	chr11	124189303	124189303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttttccatagtagtgctgGaagggggcttgaaatacatg	10	13	12	6	0	0	1	0	1	0	0	1	2	1	2	1	3	2	3	1	3	5	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr11:124189303G>T	ENST00000357438.2	-	1	881	c.791C>A	c.(790-792)tCc>tAc	p.S264Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGTAGTGCTGGAAGGGGGCTT	0.448																																																	0													136	143	140					11																	124189303		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.791C>A	11.37:g.124189303G>T	ENSP00000350022:p.Ser264Tyr		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S264Y	ENST00000357438.2	37	c.791	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	g	14.47	2.544931	0.45280	.	.	ENSG00000197263	ENST00000357438	T	0.00274	8.35	3.34	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.00724	0.0024	M	0.89904	3.07	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.17048	-1.0382	10	0.87932	D	0	.	12.3613	0.55205	0.0:0.0:0.8288:0.1711	.	264	Q9GZM6	OR8D2_HUMAN	Y	264	ENSP00000350022:S264Y	ENSP00000350022:S264Y	S	-	2	0	OR8D2	123694513	0.001000	0.12720	0.006000	0.13384	0.940000	0.58332	0.973000	0.29422	0.980000	0.38523	0.530000	0.56133	TCC	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197263		0.448	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1		0	32	0	G	NM_001002918		124189303	-1			no_errors	ENST00000357438	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.009	T	T	124189303	G	T	124189303	3	4	7	1	0	0	0	0	1	0	0	0	11271	1174	41	3	147	3	OR8D2	11	124189303	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	699439	124189303	10817213	177	2041											
SLC6A12	6539	genome.wustl.edu	37	chr12	307123	307123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtcaggcacccctggCagatggcaaaggagaagaag	12	4	16	9	0	1	3	1	0	0	3	1	4	1	3	2	5	0	4	2	5	3	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:307123C>T	ENST00000428720.1	-	9	1636	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.C298Y|SLC6A12_ENST00000359674.4_Missense_Mutation_p.C298Y|SLC6A12_ENST00000536824.1_Missense_Mutation_p.C298Y|SLC6A12_ENST00000424061.2_Missense_Mutation_p.C298Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	298					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GCACCCCTGGCAGATGGCAAA	0.597																																																	0													72	81	78					12																	307123		2203	4300	6503	SO:0001583	missense	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.893G>A	12.37:g.307123C>T	ENSP00000388184:p.Cys298Tyr		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.C298Y	ENST00000428720.1	37	c.893	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236941	0.79800	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	3.95	3.95	0.45737	.	0.056774	0.64402	D	0.000001	D	0.91071	0.7190	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.94533	0.7738	10	0.66056	D	0.02	.	16.2044	0.82114	0.0:1.0:0.0:0.0	.	298	P48065	S6A12_HUMAN	Y	298	ENSP00000352702:C298Y;ENSP00000380464:C298Y;ENSP00000388184:C298Y;ENSP00000399136:C298Y;ENSP00000444268:C298Y	ENSP00000352702:C298Y	C	-	2	0	SLC6A12	177384	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.543000	0.82106	2.041000	0.60428	0.561000	0.74099	TGC	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000111181		0.597	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2		0	47	0	C	NM_003044		307123	-1			no_errors	ENST00000359674	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	307123	C	T	307123	3	4	7	1	0	0	0	0	1	0	0	0	14720	710	25	3	983	3	SLC6A12	12	307123	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09		307123	133544772	178	2042											
GALNT8	26290	genome.wustl.edu	37	chr12	4854630	4854630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcggattcaggaggaccGcactgtgattgtgtctcctg	6	11	14	10	2	2	1	1	1	1	0	4	4	2	4	2	4	0	2	2	4	0	2	rs200878740		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:4854630G>A	ENST00000252318.2	+	5	1233	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	299					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAGGAGGACCGCACTGTGATT	0.483																																					Colon(108;631 1558 7270 20097 39846)												0													128	104	112					12																	4854630		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.896G>A	12.37:g.4854630G>A	ENSP00000252318:p.Arg299His		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R299H	ENST00000252318.2	37	c.896	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934756	0.34189	.	.	ENSG00000130035	ENST00000252318	T	0.59638	0.25	4.11	-3.31	0.04988	Glycosyl transferase, family 2 (1);	0.287921	0.33127	N	0.005258	T	0.42200	0.1192	L	0.49126	1.545	0.26078	N	0.981139	B	0.30824	0.296	B	0.21360	0.034	T	0.28332	-1.0047	10	0.46703	T	0.11	.	10.4634	0.44594	0.6247:0.0:0.3753:0.0	.	299	Q9NY28	GALT8_HUMAN	H	299	ENSP00000252318:R299H	ENSP00000252318:R299H	R	+	2	0	GALNT8	4724891	0.014000	0.17966	0.779000	0.31741	0.876000	0.50452	1.362000	0.34148	-0.577000	0.05967	-0.424000	0.05967	CGC	GALNT8	-	pfam_Glyco_trans_2	ENSG00000130035		0.483	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0	60	0	G	NM_017417		4854630	1	tier1	rs200878740	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.899	A	A	4854630	G	A	4854630	3	1	7	1	0	0	0	0	1	0	0	0	6244	1087	38	1	914	1	GALNT8	12	4854630	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4547507	4854630	128997265	179	2043											
A2ML1	144568	genome.wustl.edu	37	chr12	9004924	9004924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggaacatcacagctgTcaaattgggtaagagaggga	14	7	12	8	0	2	1	2	0	0	1	2	4	2	3	1	3	2	2	1	3	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:9004924T>C	ENST00000299698.7	+	20	2762	c.2582T>C	c.(2581-2583)gTc>gCc	p.V861A	A2ML1_ENST00000539547.1_Missense_Mutation_p.V370A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATCACAGCTGTCAAATTGGGT	0.502																																																	0													156	150	152					12																	9004924		1986	4163	6149	SO:0001583	missense	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2582T>C	12.37:g.9004924T>C	ENSP00000299698:p.Val861Ala			Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.V861A	ENST00000299698.7	37	c.2582	CCDS8596.2	12	.	.	.	.	.	.	.	.	.	.	T	0.739	-0.776914	0.02929	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.34667	1.35;1.35;1.35	3.22	2.08	0.27032	.	0.949973	0.08588	N	0.923549	T	0.18593	0.0446	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.29610	-1.0006	10	0.18710	T	0.47	.	2.3083	0.04180	0.2144:0.2404:0.0:0.5451	.	861	A8K2U0	A2ML1_HUMAN	A	861;861;411;370	ENSP00000299698:V861A;ENSP00000443174:V411A;ENSP00000438292:V370A	ENSP00000299698:V861A	V	+	2	0	A2ML1	8896191	0.000000	0.05858	0.893000	0.35052	0.086000	0.17979	-0.129000	0.10515	0.624000	0.30286	0.379000	0.24179	GTC	A2ML1	-	pfam_SV_autoAg	ENSG00000166535		0.502	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	-	0	32	0	T	NM_144670		9004924	1	tier1	-	no_errors	ENST00000299698	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.172	C	C	9004924	T	C	9004924	3	2	7	1	0	0	0	0	1	0	0	0	5	1667	58	4	2660	4	A2ML1	12	9004924	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	4150294	9004924	124846971	180	2044											
TAS2R50	259296	genome.wustl.edu	37	chr12	11138780	11138780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagatcagagtttgcaaaGcttttatgtggaccttggtg	10	13	13	5	0	1	2	1	0	0	2	1	4	1	3	1	3	2	3	1	3	2	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:11138780G>T	ENST00000506868.1	-	1	731	c.680C>A	c.(679-681)gCt>gAt	p.A227D	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	227					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						AGTTTGCAAAGCTTTTATGTG	0.443																																																	0													151	148	149					12																	11138780		2203	4300	6503	SO:0001583	missense	0			AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.680C>A	12.37:g.11138780G>T	ENSP00000424040:p.Ala227Asp		P59545|Q2M255|Q645Y0	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.A227D	ENST00000506868.1	37	c.680	CCDS8638.1	12	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533404	0.45073	.	.	ENSG00000212126	ENST00000506868	T	0.01505	4.82	2.19	2.19	0.27852	.	0.093502	0.41605	U	0.000842	T	0.15349	0.0370	H	0.97315	3.98	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.08046	-1.0741	10	0.87932	D	0	.	10.0176	0.42024	0.0:0.0:1.0:0.0	.	227	P59544	T2R50_HUMAN	D	227	ENSP00000424040:A227D	ENSP00000424040:A227D	A	-	2	0	TAS2R50	11030047	0.016000	0.18221	0.003000	0.11579	0.163000	0.22366	1.611000	0.36879	1.216000	0.43427	0.313000	0.20887	GCT	TAS2R50	-	pfam_TAS2_rcpt	ENSG00000212126		0.443	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R50	HGNC	protein_coding	OTTHUMT00000370192.2		0	80	0	G	NM_176890		11138780	-1			no_errors	ENST00000506868	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.025	T	T	11138780	G	T	11138780	3	4	7	1	0	0	0	0	1	0	0	0	15631	971	34	3	223	3	TAS2R50	12	11138780	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	2133856	11138780	122713115	181	2045											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20876179	20876179	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcatcctccagggccaacTttgtgatcggtatgctcatc	8	12	9	12	1	2	1	2	1	0	0	6	1	4	1	3	2	2	2	3	2	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:20876179T>G	ENST00000266509.2	+	9	1545	c.1177T>G	c.(1177-1179)Ttt>Gtt	p.F393V	SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F393V|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F393V|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F275V|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.F344V	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	393					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CAGGGCCAACTTTGTGATCGG	0.453																																																	0													146	126	133					12																	20876179		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1177T>G	12.37:g.20876179T>G	ENSP00000266509:p.Phe393Val		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.F393V	ENST00000266509.2	37	c.1177	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344233	0.61073	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.54	4.54	0.55810	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.73753	2.245	0.80722	D	1	D;B;B;B	0.54397	0.966;0.223;0.422;0.411	P;B;B;B	0.58013	0.831;0.394;0.394;0.394	T	0.59112	-0.7515	10	0.34782	T	0.22	.	14.3364	0.66592	0.0:0.0:0.0:1.0	.	275;344;393;393	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	V	393;344;393;393;275	ENSP00000444149:F393V;ENSP00000438665:F344V;ENSP00000266509:F393V;ENSP00000370964:F393V;ENSP00000444527:F275V	ENSP00000266509:F393V	F	+	1	0	SLCO1C1	20767446	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	5.782000	0.68973	2.031000	0.59945	0.459000	0.35465	TTT	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.453	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	43	0	T	NM_017435		20876179	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	55.88	30	38	SNP	1.000	G	G	20876179	T	G	20876179	3	3	7	1	0	0	0	0	1	0	0	0	14770	1609	56	4	1207	4	SLCO1C1	12	20876179	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	9737399	20876179	112975716	182	2046											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21294585	21294585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaacaagatactgcaatgGattgaaggtagaataagttt	18	10	10	3	0	0	3	0	1	0	2	0	5	0	4	0	2	3	3	0	2	9	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:21294585G>T	ENST00000256958.2	+	2	173	c.77G>T	c.(76-78)gGa>gTa	p.G26V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	26					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TACTGCAATGGATTGAAGGTA	0.284																																																	0													68	69	69					12																	21294585		2203	4295	6498	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.77G>T	12.37:g.21294585G>T	ENSP00000256958:p.Gly26Val		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.G26V	ENST00000256958.2	37	c.77	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	.	9.298	1.052262	0.19827	.	.	ENSG00000134538	ENST00000256958	T	0.58358	0.34	3.52	1.63	0.23807	Major facilitator superfamily domain, general substrate transporter (1);	0.875750	0.09764	N	0.758877	T	0.55465	0.1922	M	0.72118	2.19	0.54753	D	0.99998	D	0.54772	0.968	P	0.49012	0.598	T	0.55554	-0.8123	10	0.54805	T	0.06	.	4.8577	0.13568	0.1223:0.2199:0.6579:0.0	.	26	Q9Y6L6	SO1B1_HUMAN	V	26	ENSP00000256958:G26V	ENSP00000256958:G26V	G	+	2	0	SLCO1B1	21185852	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	0.923000	0.28757	0.450000	0.26774	-0.142000	0.14014	GGA	SLCO1B1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000134538		0.284	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1		0	50	0	G	NM_006446		21294585	1			no_errors	ENST00000256958	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.999	T	T	21294585	G	T	21294585	3	4	7	1	0	0	0	0	1	0	0	0	14768	1174	41	3	79	3	SLCO1B1	12	21294585	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	418406	21294585	112557310	183	2047											
ABCC9	10060	genome.wustl.edu	37	chr12	21971136	21971136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagaattcgaagacccaCtaatggatgctatagatgca	15	9	8	9	1	0	3	0	0	0	3	2	5	1	4	2	1	2	2	2	1	5	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:21971136C>A	ENST00000261201.4	-	30	3718	c.3719G>T	c.(3718-3720)aGt>aTt	p.S1240I	ABCC9_ENST00000345162.2_Missense_Mutation_p.S1204I|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1240I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1240	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CGAAGACCCACTAATGGATGC	0.398																																																	0													174	168	170					12																	21971136		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3719G>T	12.37:g.21971136C>A	ENSP00000261201:p.Ser1240Ile		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S1240I	ENST00000261201.4	37	c.3719	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	C	1.539	-0.542211	0.04053	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.22	3.3	0.37823	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.387554	0.31092	N	0.008270	T	0.72128	0.3422	N	0.10645	0.015	0.21984	N	0.999438	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.55360	-0.8153	10	0.06891	T	0.86	-14.8494	8.7037	0.34340	0.1231:0.5252:0.3517:0.0	.	1240;1240	O60706;O60706-2	ABCC9_HUMAN;.	I	1240;867;1240;1204	ENSP00000261200:S1240I;ENSP00000440521:S867I;ENSP00000261201:S1240I;ENSP00000261202:S1204I	ENSP00000261200:S1240I	S	-	2	0	ABCC9	21862403	0.740000	0.28207	0.925000	0.36789	0.466000	0.32739	1.117000	0.31234	1.418000	0.47098	-0.291000	0.09656	AGT	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000069431		0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	52	0	C	NM_005691		21971136	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	16.39	51	10	SNP	0.447	A	A	21971136	C	A	21971136	3	1	7	1	0	0	0	0	1	0	0	0	59	565	20	3	1108	3	ABCC9	12	21971136	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	676551	21971136	111880759	184	2048											
KLHDC5	57542	genome.wustl.edu	37	chr12	27944734	27944734	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttacaaccccgagcaggaTgcgtggaattttgtggcgcc	8	10	13	10	3	0	0	0	0	0	0	0	3	0	2	3	3	4	2	3	3	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:27944734T>G	ENST00000381271.2	+	2	1277	c.966T>G	c.(964-966)gaT>gaG	p.D322E		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	322					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCGAGCAGGATGCGTGGAATT	0.473																																																	0													223	216	218					12																	27944734		2203	4300	6503	SO:0001583	missense	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.966T>G	12.37:g.27944734T>G	ENSP00000370671:p.Asp322Glu		Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.D322E	ENST00000381271.2	37	c.966	CCDS31763.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.2|20.2	3.946836|3.946836	0.73672|0.73672	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000543254|ENST00000381271	.|T	.|0.79940	.|-1.32	4.86|4.86	-0.183|-0.183	0.13284|0.13284	.|Kelch-type beta propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87861|0.87861	0.6284|0.6284	M|M	0.84846|0.84846	2.72|2.72	0.42372|0.42372	D|D	0.99245|0.99245	.|D	.|0.76494	.|0.999	.|D	.|0.85130	.|0.997	D|D	0.85938|0.85938	0.1456|0.1456	5|10	.|0.62326	.|D	.|0.03	.|.	8.8642|8.8642	0.35276|0.35276	0.0:0.6501:0.0:0.3499|0.0:0.6501:0.0:0.3499	.|.	.|322	.|Q9P2K6	.|KLDC5_HUMAN	G|E	144|322	.|ENSP00000370671:D322E	.|ENSP00000370671:D322E	C|D	+|+	1|3	0|2	KLHDC5|KLHDC5	27836001|27836001	1.000000|1.000000	0.71417|0.71417	0.477000|0.477000	0.27303|0.27303	0.810000|0.810000	0.45777|0.45777	2.833000|2.833000	0.48159|0.48159	0.043000|0.043000	0.15746|0.15746	-0.297000|-0.297000	0.09499|0.09499	TGC|GAT	KLHL42	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000087448		0.473	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL42	HGNC	protein_coding	OTTHUMT00000402904.1	-	0	67	0	T	NM_020782		27944734	1	tier1	-	no_errors	ENST00000381271	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.989	G	G	27944734	T	G	27944734	3	3	7	1	0	0	0	0	1	0	0	0	8386	1461	51	4	972	4	KLHDC5	12	27944734	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	5973598	27944734	105907161	185	2049											
DENND5B	160518	genome.wustl.edu	37	chr12	31632565	31632565	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctctaaaagaacacaggTaaacacctgcaccaggttct	15	8	6	12	0	2	1	0	0	2	1	3	1	2	1	2	2	3	3	2	2	5	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:31632565T>G	ENST00000389082.5	-	3	1126	c.862A>C	c.(862-864)Acc>Ccc	p.T288P	DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Missense_Mutation_p.T310P|DENND5B_ENST00000536562.1_Missense_Mutation_p.T323P|DENND5B_ENST00000306833.6_Missense_Mutation_p.T323P	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	288	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAACACAGGTAAACACCTGC	0.473																																																	0													22	20	20					12																	31632565		1823	4081	5904	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.862A>C	12.37:g.31632565T>G	ENSP00000373734:p.Thr288Pro		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.T323P	ENST00000389082.5	37	c.967	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247756	0.80024	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69	4.56	4.56	0.56223	DENN (3);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.997;1.0;0.998;0.999	T	0.53092	-0.8487	10	0.66056	D	0.02	-20.5113	14.1051	0.65083	0.0:0.0:0.0:1.0	.	323;210;310;288;323	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	P	288;323;323;310;240	ENSP00000373734:T288P;ENSP00000306482:T323P;ENSP00000444889:T323P;ENSP00000346238:T310P;ENSP00000442938:T240P	ENSP00000306482:T323P	T	-	1	0	DENND5B	31523832	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	7.663000	0.83820	1.924000	0.55735	0.533000	0.62120	ACC	DENND5B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000170456		0.473	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	-	0	27	0	T	NM_144973		31632565	-1	tier1	-	no_errors	ENST00000306833	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	G	G	31632565	T	G	31632565	3	3	7	1	0	0	0	0	1	0	0	0	4451	1638	57	4	3038	4	DENND5B	12	31632565	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	3687831	31632565	102219330	186	2050											
PRICKLE1	144165	genome.wustl.edu	37	chr12	42858541	42858541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgaatatccatctcattgGgctgtggctgaaagaggctt	9	12	11	9	1	1	2	1	1	1	1	4	3	2	2	1	3	0	3	1	3	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:42858541G>T	ENST00000455697.1	-	7	1580	c.1295C>A	c.(1294-1296)cCc>cAc	p.P432H	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.P432H|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.P432H|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.P432H|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.P432H|RP11-328C8.4_ENST00000547824.1_RNA	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	432					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CATCTCATTGGGCTGTGGCTG	0.433																																																	0													63	66	65					12																	42858541		2203	4300	6503	SO:0001583	missense	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"prickle-like 1 (Drosophila)"			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.1295C>A	12.37:g.42858541G>T	ENSP00000401060:p.Pro432His		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P432H	ENST00000455697.1	37	c.1295	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560872	0.45590	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.61	3.77	0.43336	.	0.320136	0.30999	N	0.008460	T	0.47021	0.1423	N	0.19112	0.55	0.34943	D	0.750516	B	0.26876	0.162	B	0.36186	0.219	T	0.58393	-0.7644	10	0.72032	D	0.01	-12.606	11.8119	0.52188	0.0671:0.1233:0.8096:0.0	.	432	Q96MT3	PRIC1_HUMAN	H	432	ENSP00000401060:P432H;ENSP00000398947:P432H;ENSP00000448359:P432H;ENSP00000345064:P432H;ENSP00000449819:P432H	ENSP00000345064:P432H	P	-	2	0	PRICKLE1	41144808	1.000000	0.71417	0.719000	0.30619	0.968000	0.65278	4.689000	0.61723	0.816000	0.34421	0.650000	0.86243	CCC	PRICKLE1	-	NULL	ENSG00000139174		0.433	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	HGNC	protein_coding	OTTHUMT00000404069.1		0	31	0	G			42858541	-1			no_errors	ENST00000345127	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	T	T	42858541	G	T	42858541	3	4	7	1	0	0	0	0	1	0	0	0	12528	1232	43	3	1208	3	PRICKLE1	12	42858541	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	11225976	42858541	90993354	187	2051											
MLL2	8085	genome.wustl.edu	37	chr12	49445150	49445150	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcatggctcctcaggctgGggggacaggtgtggctcctc	5	8	17	11	0	1	0	1	0	0	0	4	1	3	1	2	8	0	4	2	8	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:49445150G>C	ENST00000301067.7	-	10	2315	c.2316C>G	c.(2314-2316)ccC>ccG	p.P772P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	772	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTCAGGCTGGGGGGACAGGT	0.677																																																	0													19	21	21					12																	49445150		1826	3850	5676	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2316C>G	12.37:g.49445150G>C			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P772	ENST00000301067.7	37	c.2316	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.677	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	58	0	G			49445150	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	silent	51.79	26	29	SNP	0.275	C	C	49445150	G	C	49445150	2	2	7	1	0	0	0	0	0	0	0	1	9659	1219	43	5		5	MLL2	12	49445150	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	6586609	49445150	84406745	188	2052											
KRT6C	286887	genome.wustl.edu	37	chr12	52865858	52865858	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagtcctcacttgttcttGaggtcctccaccaggtcctg	5	13	10	13	0	2	1	1	1	1	0	6	2	6	2	5	3	0	1	5	3	0	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:52865858G>C	ENST00000252250.6	-	2	794	c.747C>G	c.(745-747)ctC>ctG	p.L249L		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	249	Coil 1B.|Rod.			L -> F (in Ref. 1; AAC41769). {ECO:0000305}.	intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.L249L(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ACTTGTTCTTGAGGTCCTCCA	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											81	62	68					12																	52865858		2203	4298	6501	SO:0001819	synonymous_variant	0			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.747C>G	12.37:g.52865858G>C			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.L249	ENST00000252250.6	37	c.747	CCDS8829.1	12																																																																																			KRT6C	-	pfam_IF,prints_Keratin_II	ENSG00000170465		0.552	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	-	0	74	0	G	NM_173086		52865858	-1	tier1	-	no_errors	ENST00000252250	ensembl	human	known	74_37	silent	55.38	29	36	SNP	1.000	C	C	52865858	G	C	52865858	2	2	7	1	0	0	0	0	0	0	0	1	8509	1277	45	5		5	KRT6C	12	52865858	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	3420708	52865858	80986037	189	2053											
TENC1	23371	genome.wustl.edu	37	chr12	53454737	53454737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctggcctccgccacgcccCctggcaaggccctcgaggcc	4	5	11	21	3	0	0	0	0	0	0	3	1	2	0	8	4	0	1	8	4	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:53454737C>G	ENST00000314250.6	+	20	3337	c.3047C>G	c.(3046-3048)cCc>cGc	p.P1016R	TENC1_ENST00000546602.1_Missense_Mutation_p.P919R|TENC1_ENST00000552570.1_Missense_Mutation_p.P1016R|TENC1_ENST00000451358.1_Missense_Mutation_p.P1006R|TENC1_ENST00000549700.1_Missense_Mutation_p.P951R|TENC1_ENST00000379902.3_Missense_Mutation_p.P892R|TENC1_ENST00000314276.3_Missense_Mutation_p.P1026R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1016	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGCCACGCCCCCTGGCAAGGC	0.697																																																	0													15	17	16					12																	53454737		2195	4292	6487	SO:0001583	missense	0			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3047C>G	12.37:g.53454737C>G	ENSP00000319684:p.Pro1016Arg		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.P1026R	ENST00000314250.6	37	c.3077	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705963	0.30232	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94232	-3.36;-3.36;-3.36;-3.36;-3.38;-3.36;-3.36	4.55	4.55	0.56014	.	0.415331	0.23780	N	0.044625	D	0.88485	0.6449	N	0.24115	0.695	0.37393	D	0.91251	B;B;B;P	0.36837	0.343;0.343;0.435;0.571	B;B;B;B	0.39419	0.206;0.206;0.157;0.299	D	0.89529	0.3784	10	0.41790	T	0.15	-2.9156	13.0164	0.58759	0.0:1.0:0.0:0.0	.	1016;919;1016;1026	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	R	892;1026;1016;1006;919;1016;951	ENSP00000369232:P892R;ENSP00000319756:P1026R;ENSP00000319684:P1016R;ENSP00000393362:P1006R;ENSP00000449363:P919R;ENSP00000447021:P1016R;ENSP00000449361:P951R	ENSP00000319684:P1016R	P	+	2	0	TENC1	51741004	0.000000	0.05858	1.000000	0.80357	0.894000	0.52154	0.248000	0.18198	2.537000	0.85549	0.561000	0.74099	CCC	TENC1	-	NULL	ENSG00000111077		0.697	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	-	0	62	0	C	NM_170754		53454737	1	tier1	-	no_errors	ENST00000314276	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.994	G	G	53454737	C	G	53454737	3	3	7	1	0	0	0	0	1	0	0	0	15805	623	22	5	3234	5	TENC1	12	53454737	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	588879	53454737	80397158	190	2054											
HOXC12	3228	genome.wustl.edu	37	chr12	54350293	54350293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaagatctggtttcagaaCcggagaatgaaaaagaaaag	18	7	11	5	1	3	5	2	1	1	4	3	6	3	5	1	2	1	1	1	2	7	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:54350293C>T	ENST00000243103.3	+	2	888	c.792C>T	c.(790-792)aaC>aaT	p.N264N	AC012531.23_ENST00000603432.1_lincRNA	NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	264					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						GGTTTCAGAACCGGAGAATGA	0.537																																																	0													95	104	101					12																	54350293		2203	4300	6503	SO:0001819	synonymous_variant	0			AF328962	CCDS8866.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123407	ENSG00000123407		"Homeoboxes / ANTP class : HOXL subclass"	5124	protein-coding gene	gene with protein product		142975	"homeo box C12"	HOX3, HOX3F, HOC3F		1973146, 1358459	Standard	NM_173860		Approved		uc010soq.2	P31275	OTTHUMG00000160010	ENST00000243103.3:c.792C>T	12.37:g.54350293C>T			Q9BXJ6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.N264	ENST00000243103.3	37	c.792	CCDS8866.1	12																																																																																			HOXC12	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000123407		0.537	HOXC12-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXC12	HGNC	protein_coding	OTTHUMT00000358868.2		0	57	0	C	NM_173860		54350293	1			no_errors	ENST00000243103	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	54350293	C	T	54350293	2	4	7	1	0	0	0	0	0	0	0	1	7338	506	18	3		3	HOXC12	12	54350293	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	895556	54350293	79501602	191	2055											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85517961	85517961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggatgtaactatcaccaAgaaagatgaatcagaagccc	17	6	10	8	0	2	4	2	1	0	3	2	5	2	5	2	2	2	1	2	2	6	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:85517961A>T	ENST00000393217.2	+	17	3732	c.3671A>T	c.(3670-3672)aAg>aTg	p.K1224M		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1224								p.K1224T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTATCACCAAGAAAGATGAA	0.408																																																	2	Substitution - Missense(2)	large_intestine(2)											98	102	101					12																	85517961		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3671A>T	12.37:g.85517961A>T	ENSP00000376910:p.Lys1224Met		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.K1224M	ENST00000393217.2	37	c.3671	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	9.187	1.025064	0.19433	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.55413	0.52	5.52	3.08	0.35506	.	0.662303	0.14387	N	0.322759	T	0.44286	0.1286	N	0.24115	0.695	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.49999	0.533;0.628	T	0.26503	-1.0101	10	0.72032	D	0.01	.	6.9784	0.24690	0.7748:0.1493:0.0759:0.0	.	1224;1199	Q96JM4;C9JI57	LRIQ1_HUMAN;.	M	1224;1199;1224	ENSP00000376910:K1224M	ENSP00000256007:K1224M	K	+	2	0	LRRIQ1	84042092	0.014000	0.17966	0.006000	0.13384	0.028000	0.11728	2.664000	0.46783	0.348000	0.23949	0.477000	0.44152	AAG	LRRIQ1	-	NULL	ENSG00000133640		0.408	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	31	0	A	NM_032165		85517961	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.012	T	T	85517961	A	T	85517961	3	4	7	1	0	0	0	0	1	0	0	0	9064	72	3	5	3733	5	LRRIQ1	12	85517961	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	31167668	85517961	48333934	192	2056											
DUSP6	1848	genome.wustl.edu	37	chr12	89745661	89745661	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggccacgttgatggcCgactcgatgtgcgacgactc	7	8	15	11	5	0	1	0	1	0	0	2	6	0	2	2	3	1	1	2	3	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:89745661C>T	ENST00000279488.7	-	1	1387	c.156G>A	c.(154-156)tcG>tcA	p.S52S	DUSP6_ENST00000547140.1_5'Flank|DUSP6_ENST00000547291.1_5'Flank|DUSP6_ENST00000308385.6_Silent_p.S52S	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	52	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CGTTGATGGCCGACTCGATGT	0.687																																					Colon(132;3456 5224)												0													28	23	25					12																	89745661		2199	4297	6496	SO:0001819	synonymous_variant	0			BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.156G>A	12.37:g.89745661C>T			O75109|Q53Y75|Q9BSH6	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.S52	ENST00000279488.7	37	c.156	CCDS9033.1	12																																																																																			DUSP6	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom	ENSG00000139318		0.687	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP6	HGNC	protein_coding	OTTHUMT00000406534.2		0	13	0	C	NM_001946, NM_022652		89745661	-1			no_errors	ENST00000279488	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T	T	89745661	C	T	89745661	2	4	7	1	0	0	0	0	0	0	0	1	4843	639	23	1		1	DUSP6	12	89745661	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	4227700	89745661	44106234	193	2057											
SIRT4	23409	genome.wustl.edu	37	chr12	120750388	120750388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgtctttctctcagaGgagcaagtccggagctttca	8	11	12	10	2	4	2	2	1	2	1	6	4	5	4	1	3	2	2	1	3	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:120750388G>A	ENST00000202967.4	+	3	686	c.627G>A	c.(625-627)gaG>gaA	p.E209E	SIRT4_ENST00000537892.1_3'UTR|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTCTCAGAGGAGCAAGTCC	0.582																																																	0													62	59	60					12																	120750388		2203	4300	6503	SO:0001819	synonymous_variant	0			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4", "sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.627G>A	12.37:g.120750388G>A				Silent	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.E209	ENST00000202967.4	37	c.627	CCDS9194.1	12																																																																																			SIRT4	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000089163		0.582	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	-	0	48	0	G	NM_012240		120750388	1	tier1	-	no_errors	ENST00000202967	ensembl	human	known	74_37	silent	26.09	51	18	SNP	0.994	A	A	120750388	G	A	120750388	2	1	7	1	0	0	0	0	0	0	0	1	14385	991	35	3		3	SIRT4	12	120750388	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	31004727	120750388	13101507	194	2058											
EP400	57634	genome.wustl.edu	37	chr12	132530056	132530056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaacccacagctgagcctgGtcaagacaaccccgagtggc	12	4	10	15	1	1	2	1	1	0	1	1	3	1	2	4	2	4	1	4	2	3	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr12:132530056G>A	ENST00000333577.4	+	39	7194	c.7085G>A	c.(7084-7086)gGt>gAt	p.G2362D	EP400_ENST00000330386.6_Missense_Mutation_p.G2245D|EP400_ENST00000389562.2_Missense_Mutation_p.G2325D|EP400_ENST00000332482.4_Missense_Mutation_p.G2289D|EP400_ENST00000389561.2_Missense_Mutation_p.G2326D			Q96L91	EP400_HUMAN	E1A binding protein p400	2362	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCTGAGCCTGGTCAAGACAAC	0.567																																																	0													64	63	63					12																	132530056		2203	4300	6503	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.7085G>A	12.37:g.132530056G>A	ENSP00000333602:p.Gly2362Asp		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G2362D	ENST00000333577.4	37	c.7085		12	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464339	0.26335	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.89123	-2.47;-2.45;-2.46;-2.47;-2.47	5.61	4.72	0.59763	.	0.211154	0.48767	D	0.000163	D	0.86661	0.5986	L	0.37630	1.12	0.35859	D	0.827373	P;P;P	0.49783	0.928;0.928;0.928	P;P;P	0.49226	0.603;0.603;0.603	D	0.86381	0.1729	10	0.16896	T	0.51	.	15.4641	0.75384	0.0:0.1675:0.8324:0.0	.	2326;2245;2325	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	D	2362;2326;2325;2289;2245;2326	ENSP00000333602:G2362D;ENSP00000374212:G2326D;ENSP00000374213:G2325D;ENSP00000331737:G2289D;ENSP00000330620:G2245D	ENSP00000330620:G2245D	G	+	2	0	EP400	131096009	1.000000	0.71417	0.049000	0.19019	0.217000	0.24651	7.448000	0.80631	1.381000	0.46364	0.655000	0.94253	GGT	EP400	-	superfamily_Homeodomain-like,pfscan_Myb-like_dom	ENSG00000183495		0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0	41	0	G	NM_015409		132530056	1			no_errors	ENST00000333577	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.958	A	A	132530056	G	A	132530056	3	1	7	1	0	0	0	0	1	0	0	0	5165	1261	44	3	7120	3	EP400	12	132530056	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	11779668	132530056	1321839	195	2059											
SKA3	221150	genome.wustl.edu	37	chr13	21750528	21750528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaccgctttcctctccgTccagcgctcgctgcagccgg	4	8	10	19	6	1	0	0	0	1	0	5	0	3	0	5	1	3	5	5	1	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:21750528T>C	ENST00000314759.5	-	1	213	c.89A>G	c.(88-90)gAc>gGc	p.D30G	MRP63_ENST00000309594.4_5'Flank|SKA3_ENST00000400018.3_Missense_Mutation_p.D30G	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	30					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCCTCTCCGTCCAGCGCTCG	0.721																																																	0													6	7	7					13																	21750528		2118	4198	6316	SO:0001583	missense	0			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 3"	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.89A>G	13.37:g.21750528T>C	ENSP00000319417:p.Asp30Gly		A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Missense_Mutation	SNP	NULL	p.D30G	ENST00000314759.5	37	c.89	CCDS31946.1	13	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501161	0.44455	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	T;T	0.23348	1.91;1.91	5.68	1.84	0.25277	.	0.713755	0.14067	N	0.343695	T	0.18800	0.0451	L	0.41236	1.265	0.27425	N	0.954174	B;B	0.24426	0.103;0.103	B;B	0.25291	0.059;0.059	T	0.20107	-1.0285	10	0.54805	T	0.06	-0.0194	4.5683	0.12198	0.0:0.1806:0.1646:0.6548	.	30;30	Q8IX90-3;Q8IX90	.;SKA3_HUMAN	G	30	ENSP00000319417:D30G;ENSP00000382896:D30G	ENSP00000298260:D30G	D	-	2	0	SKA3	20648528	0.000000	0.05858	0.795000	0.32087	0.881000	0.50899	0.064000	0.14437	0.381000	0.24851	0.482000	0.46254	GAC	SKA3	-	NULL	ENSG00000165480		0.721	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	HGNC	protein_coding	OTTHUMT00000272912.1		0	12	0	T	NM_145061		21750528	-1			no_errors	ENST00000314759	ensembl	human	known	74_37	missense	28.57	5	2	SNP	0.803	C	C	21750528	T	C	21750528	3	2	7	1	0	0	0	0	1	0	0	0	14399	1667	58	4	1232	4	SKA3	13	21750528	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09		21750528	93419350	196	2060											
SGCG	6445	genome.wustl.edu	37	chr13	23853606	23853606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggttggtacagataaacTtcgagtaactggtatgtact	11	14	11	5	1	0	1	0	0	0	1	1	2	0	1	0	3	4	5	0	3	6	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:23853606T>G	ENST00000218867.3	+	5	618	c.494T>G	c.(493-495)cTt>cGt	p.L165R	SGCG_ENST00000545013.1_Missense_Mutation_p.L165R|SGCG_ENST00000537476.1_Missense_Mutation_p.L165R	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	165					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		ACAGATAAACTTCGAGTAACT	0.388																																																	0													103	89	94					13																	23853606		2203	4300	6503	SO:0001583	missense	0			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.494T>G	13.37:g.23853606T>G	ENSP00000218867:p.Leu165Arg		Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.L165R	ENST00000218867.3	37	c.494	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198220	0.38806	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.97688	-4.49;-4.49;-4.49	5.37	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99000	1.0811	10	0.72032	D	0.01	2.7267	11.6754	0.51427	0.1328:0.0:0.0:0.8672	.	165	Q13326	SGCG_HUMAN	R	165	ENSP00000218867:L165R;ENSP00000444100:L165R;ENSP00000442232:L165R	ENSP00000218867:L165R	L	+	2	0	SGCG	22751606	1.000000	0.71417	0.990000	0.47175	0.042000	0.13812	5.447000	0.66606	0.865000	0.35603	0.529000	0.55759	CTT	SGCG	-	pfam_Sarcoglycan	ENSG00000102683		0.388	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	-	0	28	0	T	NM_000231		23853606	1	tier1	-	no_errors	ENST00000218867	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	G	G	23853606	T	G	23853606	3	3	7	1	0	0	0	0	1	0	0	0	14248	1609	56	4	508	4	SGCG	13	23853606	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	2103078	23853606	91316272	197	2061											
PARP4	143	genome.wustl.edu	37	chr13	24995335	24995335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcccagcaactgcttggtGgcagagtcccagtcgttccc	7	9	11	14	1	0	1	0	0	0	1	4	1	3	1	3	2	3	4	3	2	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:24995335G>A	ENST00000381989.3	-	34	5202	c.5097C>T	c.(5095-5097)gcC>gcT	p.A1699A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1699	Interaction with the major vault protein.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACTGCTTGGTGGCAGAGTCCC	0.478																																																	0													3	3	3					13																	24995335		1712	3630	5342	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.5097C>T	13.37:g.24995335G>A			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A1699	ENST00000381989.3	37	c.5097	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0	25	0	G	NM_006437		24995335	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.975	A	A	24995335	G	A	24995335	2	1	7	1	0	0	0	0	0	0	0	1	11502	1335	47	3		3	PARP4	13	24995335	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	1141729	24995335	90174543	198	2062											
FRY	10129	genome.wustl.edu	37	chr13	32753153	32753153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccacacctgatggtacaGtgagctacgataacaaggtg	13	7	11	10	2	0	2	0	2	0	0	0	4	0	2	2	2	4	2	2	2	4	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:32753153G>T	ENST00000380250.3	+	22	3350	c.2854G>T	c.(2854-2856)Gtg>Ttg	p.V952L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	952						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGATGGTACAGTGAGCTACGA	0.403																																																	0													65	63	63					13																	32753153		1886	4129	6015	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2854G>T	13.37:g.32753153G>T	ENSP00000369600:p.Val952Leu		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V952L	ENST00000380250.3	37	c.2854	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	9.187	1.025058	0.19433	.	.	ENSG00000073910	ENST00000380250	T	0.48201	0.82	6.05	5.2	0.72013	.	0.193143	0.44097	D	0.000500	T	0.34919	0.0914	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.10359	-1.0633	10	0.10636	T	0.68	.	11.1192	0.48279	0.188:0.0:0.812:0.0	.	952	Q5TBA9	FRY_HUMAN	L	952	ENSP00000369600:V952L	ENSP00000369600:V952L	V	+	1	0	FRY	31651153	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.864000	0.48404	2.878000	0.98634	0.650000	0.86243	GTG	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.403	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0	67	0	G	NM_023037		32753153	1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	10.84	74	9	SNP	0.957	T	T	32753153	G	T	32753153	3	4	7	1	0	0	0	0	1	0	0	0	6087	1029	36	3	2940	3	FRY	13	32753153	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	7757818	32753153	82416725	199	2063											
BRCA2	675	genome.wustl.edu	37	chr13	32911231	32911231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaacttcatgaaacagaCttgacttgtgtaaacgaacc	16	9	8	8	1	1	3	1	2	0	1	1	5	1	4	1	1	4	1	1	1	6	4	rs276174829		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:32911231C>G	ENST00000380152.3	+	11	2972	c.2739C>G	c.(2737-2739)gaC>gaG	p.D913E	BRCA2_ENST00000544455.1_Missense_Mutation_p.D913E			P51587	BRCA2_HUMAN	breast cancer 2, early onset	913	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGAAACAGACTTGACTTGTG	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													68	72	71					13																	32911231		2203	4298	6501	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2739C>G	13.37:g.32911231C>G	ENSP00000369497:p.Asp913Glu		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.D913E	ENST00000380152.3	37	c.2739	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298809	0.40694	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.60040	0.22;0.22	5.98	2.53	0.30540	.	0.881509	0.10019	N	0.726191	T	0.42743	0.1216	L	0.47190	1.495	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.12915	-1.0529	10	0.10902	T	0.67	.	9.4763	0.38873	0.0:0.6868:0.0:0.3132	.	913	P51587	BRCA2_HUMAN	E	913	ENSP00000369497:D913E;ENSP00000439902:D913E	ENSP00000369497:D913E	D	+	3	2	BRCA2	31809231	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-0.479000	0.06567	0.675000	0.31264	0.591000	0.81541	GAC	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2		0	24	0	C	NM_000059		32911231	1			no_errors	ENST00000380152	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	G	G	32911231	C	G	32911231	3	3	7	1	0	0	0	0	1	0	0	0	1503	564	20	5	2777	5	BRCA2	13	32911231	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	158078	32911231	82258647	200	2064											
STARD13	90627	genome.wustl.edu	37	chr13	33700340	33700340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagccttgtctttgtagtCgggaactttcatcctcttca	7	15	8	11	1	4	0	2	0	2	0	6	2	5	1	2	1	2	1	2	1	2	5	rs369013604		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:33700340C>A	ENST00000336934.5	-	7	2076	c.1960G>T	c.(1960-1962)Gac>Tac	p.D654Y	STARD13_ENST00000255486.4_Missense_Mutation_p.D646Y|STARD13_ENST00000399365.3_Missense_Mutation_p.D536Y	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	654					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCTTTGTAGTCGGGAACTTTC	0.498																																																	0													185	173	177					13																	33700340		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1960G>T	13.37:g.33700340C>A	ENSP00000338785:p.Asp654Tyr		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.D654Y	ENST00000336934.5	37	c.1960	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	32	5.168741	0.94768	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.08807	3.05;3.06;3.06	6.17	6.17	0.99709	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	T	0.37517	0.1006	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.07443	-1.0772	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	619;654;646	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	Y	536;646;654;646	ENSP00000382300:D536Y;ENSP00000255486:D646Y;ENSP00000338785:D654Y	ENSP00000255486:D646Y	D	-	1	0	STARD13	32598340	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.686000	0.84128	2.941000	0.99782	0.655000	0.94253	GAC	STARD13	-	NULL	ENSG00000133121		0.498	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	39	0	C	NM_001243466		33700340	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	36.07	39	22	SNP	1.000	A	A	33700340	C	A	33700340	3	1	7	1	0	0	0	0	1	0	0	0	15303	884	31	2	1413	2	STARD13	13	33700340	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	789109	33700340	81469538	201	2065											
DCLK1	9201	genome.wustl.edu	37	chr13	36521533	36521533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcatcctggtaacggaacTtctccggtccacatgcaata	12	10	7	12	2	2	0	1	0	1	0	5	1	4	1	3	3	3	2	3	3	5	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:36521533T>G	ENST00000360631.3	-	4	996	c.785A>C	c.(784-786)aAg>aCg	p.K262T	DCLK1_ENST00000379892.4_Missense_Mutation_p.K262T|DCLK1_ENST00000255448.4_Missense_Mutation_p.K262T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	262	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTAACGGAACTTCTCCGGTCC	0.423																																																	0													113	102	106					13																	36521533		2203	4300	6503	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.785A>C	13.37:g.36521533T>G	ENSP00000353846:p.Lys262Thr		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.K262T	ENST00000360631.3	37	c.785		13	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077980	0.76528	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.92495	-3.05;-3.05;-3.05	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96402	0.8826	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.97019	0.9742	10	0.87932	D	0	.	16.1477	0.81583	0.0:0.0:0.0:1.0	.	262	O15075-2	.	T	262	ENSP00000255448:K262T;ENSP00000353846:K262T;ENSP00000369222:K262T	ENSP00000255448:K262T	K	-	2	0	DCLK1	35419533	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.902000	0.75699	2.226000	0.72624	0.523000	0.50628	AAG	DCLK1	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000133083		0.423	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0	55	0	T	NM_004734		36521533	-1	tier1	-	no_errors	ENST00000360631	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G	G	36521533	T	G	36521533	3	3	7	1	0	0	0	0	1	0	0	0	4300	1609	56	4	1464	4	DCLK1	13	36521533	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	2821193	36521533	78648345	202	2066											
CCNA1	8900	genome.wustl.edu	37	chr13	37011833	37011833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctggaaagaaagcacTccctgactgtggggtccaag	11	7	12	11	0	0	2	0	1	0	1	3	3	3	3	3	3	2	2	3	3	3	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:37011833T>A	ENST00000255465.4	+	3	629	c.365T>A	c.(364-366)cTc>cAc	p.L122H	CCNA1_ENST00000449823.1_Missense_Mutation_p.L78H|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.L121H|CCNA1_ENST00000440264.1_Missense_Mutation_p.L78H			P78396	CCNA1_HUMAN	cyclin A1	122					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAGAAAGCACTCCCTGACTGT	0.498																																																	0													87	94	91					13																	37011833		2203	4300	6503	SO:0001583	missense	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.365T>A	13.37:g.37011833T>A	ENSP00000255465:p.Leu122His		B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.L122H	ENST00000255465.4	37	c.365	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783524	0.31593	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.16743	2.36;2.36;2.32;2.32	5.25	2.58	0.30949	.	1.184240	0.05881	N	0.626519	T	0.23410	0.0566	L	0.53249	1.67	0.09310	N	1	P;P	0.44380	0.834;0.744	P;B	0.47102	0.537;0.336	T	0.17137	-1.0379	10	0.42905	T	0.14	.	5.4056	0.16320	0.0:0.1527:0.1482:0.6992	.	121;122	P78396-2;P78396	.;CCNA1_HUMAN	H	78;78;121;122	ENSP00000400666:L78H;ENSP00000409873:L78H;ENSP00000396479:L121H;ENSP00000255465:L122H	ENSP00000255465:L122H	L	+	2	0	CCNA1	35909833	0.000000	0.05858	0.002000	0.10522	0.296000	0.27459	0.628000	0.24522	0.798000	0.33994	0.379000	0.24179	CTC	CCNA1	-	pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.498	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2	-	0	36	0	T	NM_003914		37011833	1	tier1	-	no_errors	ENST00000255465	ensembl	human	known	74_37	missense	50.88	27	29	SNP	0.000	A	A	37011833	T	A	37011833	3	1	7	1	0	0	0	0	1	0	0	0	2916	1551	54	5	375	5	CCNA1	13	37011833	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	490300	37011833	78158045	203	2067											
POSTN	10631	genome.wustl.edu	37	chr13	38154722	38154722	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgcttatcttgttttaacTtttcatggagggatttctct	7	19	8	7	1	3	0	1	0	2	0	4	2	3	2	0	2	2	2	0	2	2	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:38154722T>G	ENST00000379747.4	-	11	1622	c.1505A>C	c.(1504-1506)aAg>aCg	p.K502T	POSTN_ENST00000379749.4_Missense_Mutation_p.K502T|POSTN_ENST00000379742.4_Missense_Mutation_p.K502T|POSTN_ENST00000541481.1_Missense_Mutation_p.K502T|POSTN_ENST00000379743.4_Missense_Mutation_p.K502T|POSTN_ENST00000541179.1_Missense_Mutation_p.K502T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	502	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTGTTTTAACTTTTCATGGAG	0.428																																																	0													293	280	284					13																	38154722		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1505A>C	13.37:g.38154722T>G	ENSP00000369071:p.Lys502Thr		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.K502T	ENST00000379747.4	37	c.1505	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501870	0.26949	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.02	3.81	0.43845	FAS1 domain (3);	0.266840	0.42053	D	0.000765	T	0.65450	0.2692	N	0.00521	-1.4	0.25901	N	0.983358	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.09377	0.001;0.004;0.001;0.002;0.001;0.001;0.001	T	0.58763	-0.7579	10	0.13470	T	0.59	-17.4226	4.7656	0.13130	0.2652:0.0:0.2876:0.4472	.	502;502;502;502;502;502;502	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	502	ENSP00000437959:K502T;ENSP00000369073:K502T;ENSP00000369071:K502T;ENSP00000369067:K502T;ENSP00000369066:K502T;ENSP00000437953:K502T	ENSP00000369066:K502T	K	-	2	0	POSTN	37052722	0.996000	0.38824	0.845000	0.33349	0.974000	0.67602	3.337000	0.52120	2.000000	0.58554	0.455000	0.32223	AAG	POSTN	-	superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.428	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	99	0	T	NM_006475		38154722	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	42.20	63	46	SNP	0.767	G	G	38154722	T	G	38154722	3	3	7	1	0	0	0	0	1	0	0	0	12298	1609	56	4	1057	4	POSTN	13	38154722	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	1142889	38154722	77015156	204	2068											
TSC22D1	8848	genome.wustl.edu	37	chr13	45008870	45008870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcagctgggcctgaaaCtgggcaagctgctcaggact	8	8	14	11	0	2	1	1	1	1	0	2	2	2	2	1	3	5	5	1	3	2	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:45008870C>T	ENST00000458659.2	-	3	3604	c.3114G>A	c.(3112-3114)caG>caA	p.Q1038Q	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Silent_p.Q109Q|RP11-71C5.2_ENST00000426579.2_RNA	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1038					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GGGCCTGAAACTGGGCAAGCT	0.587																																																	0													39	44	42					13																	45008870		2202	4299	6501	SO:0001819	synonymous_variant	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3114G>A	13.37:g.45008870C>T			B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	pfam_TSC-22_Dip_Bun	p.Q1038	ENST00000458659.2	37	c.3114	CCDS31966.1	13																																																																																			TSC22D1	-	pfam_TSC-22_Dip_Bun	ENSG00000102804		0.587	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2		0	54	0	C	NM_006022		45008870	-1			no_errors	ENST00000458659	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	45008870	C	T	45008870	2	4	7	1	0	0	0	0	0	0	0	1	16655	564	20	3		3	TSC22D1	13	45008870	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	6854148	45008870	70161008	205	2069											
SLITRK5	26050	genome.wustl.edu	37	chr13	88329367	88329367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgacattgtgggcatgaAgctgtgggtggagcagctca	8	10	16	7	0	1	2	1	2	0	0	1	3	1	3	0	3	3	4	0	3	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:88329367A>G	ENST00000325089.6	+	2	1943	c.1724A>G	c.(1723-1725)aAg>aGg	p.K575R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.K334R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	575	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGGGCATGAAGCTGTGGGTG	0.522																																																	0													151	139	143					13																	88329367		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1724A>G	13.37:g.88329367A>G	ENSP00000366283:p.Lys575Arg		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K575R	ENST00000325089.6	37	c.1724	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068585	0.55539	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.52526	0.7;0.66	5.26	4.04	0.47022	Cysteine-rich flanking region, C-terminal (1);	0.113435	0.56097	D	0.000023	T	0.45796	0.1360	L	0.35341	1.055	0.46298	D	0.998971	P;D	0.54772	0.861;0.968	P;P	0.53518	0.533;0.728	T	0.25293	-1.0136	9	.	.	.	-17.2028	9.5843	0.39506	0.8429:0.0:0.0:0.157	.	334;575	B4DSH5;O94991	.;SLIK5_HUMAN	R	575;334	ENSP00000366283:K575R;ENSP00000442244:K334R	.	K	+	2	0	SLITRK5	87127368	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.315000	0.72853	0.783000	0.33636	0.454000	0.30748	AAG	SLITRK5	-	smart_Cys-rich_flank_reg_C	ENSG00000165300		0.522	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	29	0	A			88329367	1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	79.31	6	23	SNP	1.000	G	G	88329367	A	G	88329367	3	3	7	1	0	0	0	0	1	0	0	0	14791	72	3	4	1726	4	SLITRK5	13	88329367	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	43320497	88329367	26840511	206	2070											
GPC6	10082	genome.wustl.edu	37	chr13	94482410	94482410	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgttttatctgcagaatTtttccgagagctcctggaga	8	16	9	8	1	2	3	0	0	2	3	4	5	4	3	2	1	2	3	2	1	2	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:94482410T>G	ENST00000377047.4	+	3	938	c.323T>G	c.(322-324)tTt>tGt	p.F108C	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	108					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCTGCAGAATTTTTCCGAGAG	0.383																																																	0													31	32	32					13																	94482410		2203	4298	6501	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.323T>G	13.37:g.94482410T>G	ENSP00000366246:p.Phe108Cys		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.F108C	ENST00000377047.4	37	c.323	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300884	0.81136	.	.	ENSG00000183098	ENST00000377047	T	0.53423	0.62	5.53	5.53	0.82687	.	0.180441	0.49305	D	0.000149	T	0.74268	0.3694	M	0.90082	3.085	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	T	0.78658	-0.2118	10	0.48119	T	0.1	.	15.9539	0.79865	0.0:0.0:0.0:1.0	.	108;108	B4E2M1;Q9Y625	.;GPC6_HUMAN	C	108	ENSP00000366246:F108C	ENSP00000366246:F108C	F	+	2	0	GPC6	93280411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.655000	0.83696	2.240000	0.73641	0.528000	0.53228	TTT	GPC6	-	pfam_Glypican	ENSG00000183098		0.383	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0	75	0	T	NM_005708		94482410	1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	G	G	94482410	T	G	94482410	3	3	7	1	0	0	0	0	1	0	0	0	6628	1841	64	4	333	4	GPC6	13	94482410	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	6153043	94482410	20687468	207	2071											
DAOA	267012	genome.wustl.edu	37	chr13	106142176	106142176	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaatggaacatgggaaagGtgatgacacttgactccggt	13	8	12	8	1	0	3	0	3	0	0	1	5	1	5	2	4	1	0	2	4	3	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:106142176G>T	ENST00000375936.3	+	4	327				DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_Intron	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator						negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					catgggaaaggtgatgacact	0.483																																																	0													151	147	148					13																	106142176		692	1591	2283	SO:0001627	intron_variant	0			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"G72 transcript"	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.282-74G>T	13.37:g.106142176G>T			A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Missense_Mutation	SNP	NULL	p.V42L	ENST00000375936.3	37	c.124	CCDS41905.1	13																																																																																			DAOA	-	NULL	ENSG00000182346		0.483	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2	-	0	36	0	G	NM_172370		106142176	1	tier1	-	no_errors	ENST00000595812	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.000	T	T	106142176	G	T	106142176	1	4	7	0	1	0	0	0	0	0	0	0	4241	1261	44	3		3	DAOA	13	106142176	Intron	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	11659766	106142176	9027702	208	2072											
FAM155A	728215	genome.wustl.edu	37	chr13	107822984	107822984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcttgagtctgctgttgCacagtcttgttgctgatgac	7	14	11	9	0	2	3	0	3	2	0	2	3	2	3	0	0	4	6	0	0	0	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:107822984C>T	ENST00000375915.2	-	3	1376	c.1238G>A	c.(1237-1239)tGc>tAc	p.C413Y		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	413						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCTGCTGTTGCACAGTCTTGT	0.498																																																	0													266	184	212					13																	107822984		2203	4300	6503	SO:0001583	missense	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1238G>A	13.37:g.107822984C>T	ENSP00000365080:p.Cys413Tyr		B2RUV1|B7Z334	Missense_Mutation	SNP	NULL	p.C413Y	ENST00000375915.2	37	c.1238	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	C	17.39	3.376344	0.61735	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	L	0.29908	0.895	0.58432	D	0.999998	D	0.56968	0.978	P	0.56865	0.808	T	0.61128	-0.7125	9	0.48119	T	0.1	.	16.0439	0.80704	0.0:0.8664:0.1336:0.0	.	413	B1AL88	F155A_HUMAN	Y	413	.	ENSP00000365080:C413Y	C	-	2	0	FAM155A	106620985	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	5.438000	0.66550	2.723000	0.93209	0.638000	0.83543	TGC	FAM155A	-	NULL	ENSG00000204442		0.498	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	-	0	54	0	C	NM_001080396		107822984	-1	tier1	-	no_errors	ENST00000375915	ensembl	human	known	74_37	missense	16.39	50	10	SNP	1.000	T	T	107822984	C	T	107822984	3	4	7	1	0	0	0	0	1	0	0	0	5484	710	25	3	142	3	FAM155A	13	107822984	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1680808	107822984	7346894	209	2073											
C13orf16	121793	genome.wustl.edu	37	chr13	111992279	111992279	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcaccatcatctacaGgtcggtccctttgttcttta	7	15	6	13	2	5	0	3	0	2	0	7	0	6	0	2	2	1	1	2	2	2	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:111992279G>T	ENST00000283547.1	+	4	368	c.239G>T	c.(238-240)aGa>aTa	p.R80I		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	80						integral component of membrane (GO:0016021)											ATCATCTACAGGTCGGTCCCT	0.552																																																	0													193	180	185					13																	111992279		2203	4300	6503	SO:0001630	splice_region_variant	0			BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 16"	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.239+1G>T	13.37:g.111992279G>T				Missense_Mutation	SNP	NULL	p.R80I	ENST00000283547.1	37	c.239	CCDS9522.1	13	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857780	0.32791	.	.	ENSG00000153495	ENST00000283547	.	.	.	4.09	1.39	0.22231	.	0.173708	0.27811	N	0.017747	T	0.54224	0.1845	L	0.32530	0.975	0.48341	D	0.99963	D	0.76494	0.999	D	0.69479	0.964	T	0.52056	-0.8626	9	0.72032	D	0.01	-16.9221	6.2435	0.20803	0.3201:0.0:0.6799:0.0	.	80	Q8N6K0	CM016_HUMAN	I	80	.	ENSP00000283547:R80I	R	+	2	0	C13orf16	110790280	1.000000	0.71417	0.962000	0.40283	0.163000	0.22366	0.694000	0.25512	0.143000	0.18926	0.563000	0.77884	AGA	TEX29	-	NULL	ENSG00000153495		0.552	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX29	HGNC	protein_coding	OTTHUMT00000045812.2	-	0	39	0	G	NM_152324	Missense_Mutation	111992279	1	tier1	-	no_errors	ENST00000283547	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.993	T	T	111992279	G	T	111992279	5	4	7	1	0	0	0	0	0	0	1	0	1724	1014	35	3	249	3	C13orf16	13	111992279	Splice_Site	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4169295	111992279	3177599	210	2074											
ATP11A	23250	genome.wustl.edu	37	chr13	113508799	113508799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcgagctgagcaagaCggtcctgcgccacagcggga	8	6	14	13	4	0	2	0	1	0	1	2	4	1	3	3	2	4	3	3	2	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr13:113508799C>T	ENST00000487903.1	+	19	2286	c.2198C>T	c.(2197-2199)aCg>aTg	p.T733M	ATP11A_ENST00000375645.3_Missense_Mutation_p.T733M|ATP11A_ENST00000283558.8_Missense_Mutation_p.T733M|ATP11A_ENST00000375630.2_Missense_Mutation_p.T733M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	733					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTGAGCAAGACGGTCCTGCGC	0.657																																																	0													53	50	51					13																	113508799		2199	4299	6498	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.2198C>T	13.37:g.113508799C>T	ENSP00000420387:p.Thr733Met		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.T733M	ENST00000487903.1	37	c.2198	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.822990|3.822990	0.71028|0.71028	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558;ENST00000432166	.|T;T;T;T	.|0.81247	.|-1.47;-1.47;-1.47;-1.47	4.7|4.7	4.7|4.7	0.59300|0.59300	.|HAD-like domain (1);	.|0.093386	.|0.64402	.|D	.|0.000001	D|D	0.83968|0.83968	0.5369|0.5369	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.998;0.997	.|D;D;P	.|0.71414	.|0.973;0.946;0.879	D|D	0.85068|0.85068	0.0938|0.0938	5|10	.|0.46703	.|T	.|0.11	.|.	17.6532|17.6532	0.88170|0.88170	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|733;733;733	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	W|M	708|733;733;733;733;174	.|ENSP00000420387:T733M;ENSP00000364781:T733M;ENSP00000364796:T733M;ENSP00000283558:T733M	.|ENSP00000283558:T733M	R|T	+|+	1|2	2|0	ATP11A|ATP11A	112556800|112556800	0.998000|0.998000	0.40836|0.40836	0.902000|0.902000	0.35471|0.35471	0.361000|0.361000	0.29550|0.29550	3.544000|3.544000	0.53640|0.53640	2.152000|2.152000	0.67230|0.67230	0.561000|0.561000	0.74099|0.74099	CGG|ACG	ATP11A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000068650		0.657	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3		0	27	0	C	NM_015205		113508799	1			no_errors	ENST00000375630	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	113508799	C	T	113508799	3	4	7	1	0	0	0	0	1	0	0	0	1120	536	19	1	2272	1	ATP11A	13	113508799	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1516520	113508799	1661079	211	2075											
MYH7	4625	genome.wustl.edu	37	chr14	23886717	23886717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacccagggcccaccttgtCgaagttcctctgcttcttgt	5	12	8	16	1	2	0	0	0	2	0	4	1	3	0	5	1	1	2	5	1	1	4	rs397516211		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:23886717C>T	ENST00000355349.3	-	31	4510	c.4348G>A	c.(4348-4350)Gac>Aac	p.D1450N	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1450					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCCACCTTGTCGAAGTTCCTC	0.622																																																	0													84	82	82					14																	23886717		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4348G>A	14.37:g.23886717C>T	ENSP00000347507:p.Asp1450Asn		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1450N	ENST00000355349.3	37	c.4348	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.425772	0.96131	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82803	-1.65	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.93766	0.8007	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95091	0.8222	9	0.66056	D	0.02	.	18.4709	0.90774	0.0:1.0:0.0:0.0	.	1450	P12883	MYH7_HUMAN	N	1450;1455	ENSP00000347507:D1450N	ENSP00000347507:D1450N	D	-	1	0	MYH7	22956557	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	5.489000	0.66875	2.609000	0.88269	0.561000	0.74099	GAC	MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	28	0	C	NM_000257		23886717	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	T	T	23886717	C	T	23886717	3	4	7	1	0	0	0	0	1	0	0	0	10077	884	31	1	1499	1	MYH7	14	23886717	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09		23886717	83462823	212	2076											
JPH4	84502	genome.wustl.edu	37	chr14	24045177	24045177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgccgaagccgctgcgccGatctgcgcgccactcgcccg	5	4	13	19	9	1	0	0	0	1	0	2	3	1	0	5	0	3	1	5	0	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:24045177G>A	ENST00000397118.3	-	4	1770	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	JPH4_ENST00000544177.1_5'Flank|JPH4_ENST00000356300.4_Missense_Mutation_p.R290W	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	290					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGCTGCGCCGATCTGCGCGC	0.781																																																	0													7	8	8					14																	24045177		1712	3564	5276	SO:0001583	missense	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.868C>T	14.37:g.24045177G>A	ENSP00000380307:p.Arg290Trp		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.R290W	ENST00000397118.3	37	c.868	CCDS9603.1	14	.	.	.	.	.	.	.	.	.	.	.	19.19	3.780522	0.70222	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407	T;T	0.56275	0.47;0.47	3.97	0.749	0.18381	.	.	.	.	.	T	0.64713	0.2623	L	0.57536	1.79	0.31897	N	0.616501	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.958	T	0.68424	-0.5412	9	0.87932	D	0	.	10.7616	0.46268	0.0:0.0:0.5129:0.4871	.	290;290	A8K396;Q96JJ6	.;JPH4_HUMAN	W	290;290;290;291	ENSP00000348648:R290W;ENSP00000380307:R290W	ENSP00000267407:R291W	R	-	1	2	JPH4	23115017	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	0.907000	0.28531	0.299000	0.22661	-0.237000	0.12165	CGG	JPH4	-	pfam_MORN,smart_MORN,pirsf_Junctophilin	ENSG00000092051		0.781	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	-	0	10	0	G	NM_032452		24045177	-1	tier1	-	no_errors	ENST00000356300	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	A	A	24045177	G	A	24045177	3	1	7	1	0	0	0	0	1	0	0	0	7990	1057	37	1	1034	1	JPH4	14	24045177	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	158460	24045177	83304363	213	2077											
LRRC16B	90668	genome.wustl.edu	37	chr14	24524274	24524274	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctatctcctgccccacaGgtggcttctctgagacctac	7	10	8	16	0	2	1	0	1	2	1	4	2	2	1	5	2	3	1	5	2	2	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:24524274G>A	ENST00000342740.5	+	7	614		c.e7-1		LRRC16B_ENST00000334420.7_Splice_Site	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B							cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CTGCCCCACAGGTGGCTTCTC	0.537																																																	0													135	112	120					14																	24524274		2203	4300	6503	SO:0001630	splice_region_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.461-1G>A	14.37:g.24524274G>A			Q8TEF7|Q96HS9	Splice_Site	SNP	-	e7-1	ENST00000342740.5	37	c.461-1	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394312	0.62066	.	.	ENSG00000186648	ENST00000342740	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6262	0.56630	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC16B	23594114	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.961000	0.93122	2.342000	0.79632	0.462000	0.41574	.	LRRC16B	-	-	ENSG00000186648		0.537	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1		0	62	0	G	NM_138360	Intron	24524274	1			no_errors	ENST00000342740	ensembl	human	known	74_37	splice_site	5.88	48	3	SNP	1.000	A	A	24524274	G	A	24524274	5	1	7	1	0	0	0	0	0	0	1	0	9007	1014	35	3	486	3	LRRC16B	14	24524274	Splice_Site	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	479097	24524274	82825266	214	2078											
EXOC5	10640	genome.wustl.edu	37	chr14	57696600	57696600	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccttcaaatcttgaataCtagtacatcataaagacaaa	17	13	3	8	0	3	2	2	1	1	1	4	2	4	2	1	0	2	1	1	0	8	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:57696600C>T	ENST00000413566.2	-	12	1508		c.e12-1		EXOC5_ENST00000340918.7_Splice_Site	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCTTGAATACTAGTACATCA	0.343																																																	0													49	45	46					14																	57696600		1807	3987	5794	SO:0001630	splice_region_variant	0			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.1149-1G>A	14.37:g.57696600C>T			B2R6C5	Splice_Site	SNP	-	e12-1	ENST00000413566.2	37	c.1149-1	CCDS45111.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247106	0.80024	.	.	ENSG00000070367	ENST00000413566;ENST00000340918	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8874	0.92385	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXOC5	56766353	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.468000	0.83385	0.585000	0.79938	.	EXOC5	-	-	ENSG00000070367		0.343	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EXOC5	HGNC	protein_coding	OTTHUMT00000412905.1		0	44	0	C	NM_006544	Intron	57696600	-1			no_errors	ENST00000413566	ensembl	human	known	74_37	splice_site	14.29	42	7	SNP	1.000	T	T	57696600	C	T	57696600	5	4	7	1	0	0	0	0	0	0	1	0	5323	579	20	3	1006	3	EXOC5	14	57696600	Splice_Site	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	33172326	57696600	49652940	215	2079											
PPP2R5E	5529	genome.wustl.edu	37	chr14	63861976	63861976	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagttcagctacaccAttgaagtgttctgtttcata	10	14	7	10	0	3	1	2	1	1	0	4	1	4	1	2	0	3	5	2	0	3	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:63861976A>T	ENST00000337537.3	-	7	1310	c.708T>A	c.(706-708)aaT>aaA	p.N236K	PPP2R5E_ENST00000555899.1_Missense_Mutation_p.N236K|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.N160K|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	236					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CAGCTACACCATTGAAGTGTT	0.408																																																	0													87	89	88					14																	63861976		2201	4300	6501	SO:0001583	missense	0			L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9313	protein-coding gene	gene with protein product		601647	"protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.708T>A	14.37:g.63861976A>T	ENSP00000337641:p.Asn236Lys		A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.N236K	ENST00000337537.3	37	c.708	CCDS9758.1	14	.	.	.	.	.	.	.	.	.	.	A	26.3	4.722304	0.89298	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.72982	0.979;0.917	D	0.91407	0.5148	9	0.87932	D	0	-11.1504	15.8237	0.78678	1.0:0.0:0.0:0.0	.	236;236	B7ZKK9;Q16537	.;2A5E_HUMAN	K	236;236;160	.	ENSP00000337641:N236K	N	-	3	2	PPP2R5E	62931729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.541000	0.53618	2.193000	0.70182	0.519000	0.50382	AAT	PPP2R5E	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000154001		0.408	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5E	HGNC	protein_coding	OTTHUMT00000276973.1	-	0	76	0	A	NM_006246		63861976	-1	tier1	-	no_errors	ENST00000337537	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	63861976	A	T	63861976	3	4	7	1	0	0	0	0	1	0	0	0	12438	214	8	5	727	5	PPP2R5E	14	63861976	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	6165376	63861976	43487564	216	2080											
NRXN3	9369	genome.wustl.edu	37	chr14	79746672	79746672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagacggagccctcctcGccggccggcctggacgcttg	4	5	15	17	7	0	1	0	0	0	1	2	4	1	3	5	4	1	1	5	4	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:79746672G>A	ENST00000557594.1	+	1	991	c.38G>A	c.(37-39)cGc>cAc	p.R13H	NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.R13H|NRXN3_ENST00000281127.7_Missense_Mutation_p.R13H	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	13					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGCCCTCCTCGCCGGCCGGCC	0.562																																																	0													144	141	142					14																	79746672		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.38G>A	14.37:g.79746672G>A	ENSP00000451672:p.Arg13His		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G	p.R13H	ENST00000557594.1	37	c.38		14	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664476	0.67700	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.37915	1.29;1.36;1.17	5.58	5.58	0.84498	.	.	.	.	.	T	0.38558	0.1045	N	0.08118	0	0.80722	D	1	P;D;D	0.59767	0.856;0.986;0.976	B;D;P	0.64687	0.276;0.928;0.848	T	0.33954	-0.9848	8	.	.	.	.	17.8182	0.88642	0.0:0.0:1.0:0.0	.	13;13;13	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	H	13	ENSP00000451672:R13H;ENSP00000281127:R13H;ENSP00000394426:R13H	.	R	+	2	0	NRXN3	78816425	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.146000	0.77373	2.647000	0.89833	0.558000	0.71614	CGC	NRXN3	-	NULL	ENSG00000021645		0.562	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0	79	0	G	NM_001105250		79746672	1	tier1	-	no_errors	ENST00000428277	ensembl	human	known	74_37	missense	29.41	48	20	SNP	1.000	A	A	79746672	G	A	79746672	3	1	7	1	0	0	0	0	1	0	0	0	10706	1087	38	1	2223	1	NRXN3	14	79746672	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	15884696	79746672	27602868	217	2081											
FOXN3	1112	genome.wustl.edu	37	chr14	89629287	89629287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggctcactctcagtcCgcatccggcagctggtgatg	8	9	12	12	2	2	2	2	1	1	1	5	2	4	2	2	3	1	4	2	3	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:89629287C>T	ENST00000345097.4	-	7	1060	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	FOXN3_ENST00000261302.5_Missense_Mutation_p.R315Q|FOXN3_ENST00000557258.1_Missense_Mutation_p.R293Q|FOXN3_ENST00000555353.1_Missense_Mutation_p.R293Q	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	315					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCTCAGTCCGCATCCGGCA	0.612																																																	0													29	21	23					14																	89629287		2050	4090	6140	SO:0001583	missense	0				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.944G>A	14.37:g.89629287C>T	ENSP00000343288:p.Arg315Gln		Q96II7|Q9UIE7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R315Q	ENST00000345097.4	37	c.944	CCDS41977.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.119536|4.119536	0.77323|0.77323	.|.	.|.	ENSG00000053254|ENSG00000053254	ENST00000553840|ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	.|D;D;D;D	.|0.95342	.|-3.68;-3.68;-3.43;-3.43	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95978|0.95978	0.8690|0.8690	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|0.998;1.0	.|P;D	.|0.83275	.|0.656;0.996	D|D	0.93233|0.93233	0.6619|0.6619	5|10	.|0.12430	.|T	.|0.62	.|.	19.5865|19.5865	0.95492|0.95492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|315;293	.|O00409;O00409-2	.|FOXN3_HUMAN;.	R|Q	164|315;315;293;293	.|ENSP00000343288:R315Q;ENSP00000261302:R315Q;ENSP00000452005:R293Q;ENSP00000452227:R293Q	.|ENSP00000261302:R315Q	G|R	-|-	1|2	0|0	FOXN3|FOXN3	88699040|88699040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.050000|4.050000	0.57404|0.57404	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GGA|CGG	FOXN3	-	NULL	ENSG00000053254		0.612	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	HGNC	protein_coding	OTTHUMT00000410902.2	-	0	52	0	C	NM_005197		89629287	-1	tier1	-	no_errors	ENST00000261302	ensembl	human	known	74_37	missense	60.29	27	41	SNP	1.000	T	T	89629287	C	T	89629287	3	4	7	1	0	0	0	0	1	0	0	0	6045	652	23	1	532	1	FOXN3	14	89629287	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	9882615	89629287	17720253	218	2082											
CCDC88C	440193	genome.wustl.edu	37	chr14	91755659	91755659	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttgatgagtttgactaAggctttggctccaatccagt	8	15	11	7	0	0	3	0	3	0	0	2	3	2	3	2	3	0	4	2	3	2	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:91755659A>C	ENST00000389857.6	-	25	4317	c.4231T>G	c.(4231-4233)Tta>Gta	p.L1411V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1411					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGTTTGACTAAGGCTTTGGCT	0.547																																																	0													227	236	233					14																	91755659		1957	4145	6102	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4231T>G	14.37:g.91755659A>C	ENSP00000374507:p.Leu1411Val		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.L1411V	ENST00000389857.6	37	c.4231	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493571	0.64186	.	.	ENSG00000015133	ENST00000389857	T	0.66638	-0.22	5.25	2.93	0.34026	.	0.194901	0.25052	U	0.033520	T	0.60379	0.2264	M	0.67953	2.075	0.80722	D	1	P	0.38582	0.638	B	0.35859	0.212	T	0.57447	-0.7810	10	0.52906	T	0.07	-6.1868	8.6108	0.33801	0.8418:0.0:0.1582:0.0	.	1411	Q9P219	DAPLE_HUMAN	V	1411	ENSP00000374507:L1411V	ENSP00000374507:L1411V	L	-	1	2	CCDC88C	90825412	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.620000	0.46410	0.340000	0.23745	0.379000	0.24179	TTA	CCDC88C	-	NULL	ENSG00000015133		0.547	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0	67	0	A	XM_029353		91755659	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	C	C	91755659	A	C	91755659	3	2	7	1	0	0	0	0	1	0	0	0	2872	69	3	4	1879	4	CCDC88C	14	91755659	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	2126372	91755659	15593881	219	2083											
AHNAK2	113146	genome.wustl.edu	37	chr14	105408717	105408717	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcctcttggccagcctgGacctccagatcagcggaagg	9	7	11	14	1	2	1	1	0	1	1	4	3	4	3	5	4	2	0	5	4	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:105408717G>T	ENST00000333244.5	-	7	13190	c.13071C>A	c.(13069-13071)gtC>gtA	p.V4357V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4357						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCAGCCTGGACCTCCAGAT	0.627																																																	0													108	114	112					14																	105408717		1948	4151	6099	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13071C>A	14.37:g.105408717G>T			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4357	ENST00000333244.5	37	c.13071	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	141	0	G	NM_138420		105408717	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	48.18	71	66	SNP	0.009	T	T	105408717	G	T	105408717	2	4	7	1	0	0	0	0	0	0	0	1	415	1161	41	3		3	AHNAK2	14	105408717	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	13653058	105408717	1940823	220	2084			1	1		3	3	913	N	G_C	4.061035e-05
AHNAK2	113146	genome.wustl.edu	37	chr14	105409103	105409103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggcccttgagggccaCtttgggcatcttcaaacagg	7	9	14	11	0	2	1	1	1	1	0	2	1	2	1	2	5	1	1	2	5	1	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:105409103C>A	ENST00000333244.5	-	7	12804	c.12685G>T	c.(12685-12687)Gtg>Ttg	p.V4229L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4229						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAGGGCCACTTTGGGCATC	0.647																																																	0													108	117	114					14																	105409103		1855	4085	5940	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12685G>T	14.37:g.105409103C>A	ENSP00000353114:p.Val4229Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4229L	ENST00000333244.5	37	c.12685	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	c	4.067	0.010251	0.07912	.	.	ENSG00000185567	ENST00000333244	T	0.01438	4.89	3.61	1.56	0.23342	.	0.254426	0.19329	U	0.116949	T	0.05547	0.0146	M	0.75777	2.31	0.09310	N	1	D	0.63880	0.993	D	0.74348	0.983	T	0.22730	-1.0208	10	0.31617	T	0.26	-28.2285	7.4026	0.26973	0.3045:0.5241:0.1714:0.0	.	4229	Q8IVF2	AHNK2_HUMAN	L	4229	ENSP00000353114:V4229L	ENSP00000353114:V4229L	V	-	1	0	AHNAK2	104480148	0.073000	0.21202	0.319000	0.25293	0.036000	0.12997	0.878000	0.28126	0.477000	0.27464	0.306000	0.20318	GTG	AHNAK2	-	NULL	ENSG00000185567		0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	148	0	C	NM_138420		105409103	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	16.20	119	23	SNP	0.005	A	A	105409103	C	A	105409103	3	1	7	1	0	0	0	0	1	0	0	0	415	565	20	3	4706	3	AHNAK2	14	105409103	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	386	105409103	1940437	221	2085			1	1		3	3	913	N	G_C	4.061035e-05
AHNAK2	113146	genome.wustl.edu	37	chr14	105409629	105409629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaactgggcatctgcacCttgggcaggtgccctttgag	7	11	13	10	0	1	2	0	2	1	0	1	2	1	2	2	3	3	3	2	3	1	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr14:105409629C>G	ENST00000333244.5	-	7	12278	c.12159G>C	c.(12157-12159)aaG>aaC	p.K4053N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4053						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTGCACCTTGGGCAGGT	0.632																																																	0													142	147	146					14																	105409629		1855	4098	5953	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12159G>C	14.37:g.105409629C>G	ENSP00000353114:p.Lys4053Asn		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K4053N	ENST00000333244.5	37	c.12159	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	15.63	2.889752	0.52014	.	.	ENSG00000185567	ENST00000333244	T	0.01629	4.72	4.12	4.12	0.48240	.	.	.	.	.	T	0.08133	0.0203	M	0.75447	2.3	0.23946	N	0.996383	D	0.69078	0.997	D	0.78314	0.991	T	0.20075	-1.0286	9	0.32370	T	0.25	.	8.9582	0.35832	0.1648:0.6753:0.1599:0.0	.	4053	Q8IVF2	AHNK2_HUMAN	N	4053	ENSP00000353114:K4053N	ENSP00000353114:K4053N	K	-	3	2	AHNAK2	104480674	0.000000	0.05858	0.977000	0.42913	0.747000	0.42532	-0.119000	0.10676	1.871000	0.54225	0.556000	0.70494	AAG	AHNAK2	-	NULL	ENSG00000185567		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	166	0	C	NM_138420		105409629	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	24.14	110	35	SNP	0.944	G	G	105409629	C	G	105409629	3	3	7	1	0	0	0	0	1	0	0	0	415	680	24	5	5232	5	AHNAK2	14	105409629	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	526	105409629	1939911	222	2086			1	1		3	3	913	N	G_C	4.061035e-05
PGBD4	161779	genome.wustl.edu	37	chr15	34396391	34396391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatacgacaaggatggcaaGaagatccggaaagaaacgcg	18	3	12	8	4	0	3	0	0	0	3	1	6	1	5	1	3	2	1	1	3	7	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:34396391G>A	ENST00000397766.2	+	1	2118	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	553										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AGGATGGCAAGAAGATCCGGA	0.438																																																	0													132	110	117					15																	34396391		2201	4298	6499	SO:0001819	synonymous_variant	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1659G>A	15.37:g.34396391G>A			A1L487|A8K0C6|Q8N9E8	Silent	SNP	NULL	p.K553	ENST00000397766.2	37	c.1659	CCDS10033.1	15																																																																																			PGBD4	-	NULL	ENSG00000182405		0.438	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1	-	0	37	0	G			34396391	1	tier1	-	no_errors	ENST00000397766	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.000	A	A	34396391	G	A	34396391	2	1	7	1	0	0	0	0	0	0	0	1	11822	933	33	3		3	PGBD4	15	34396391	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09		34396391	68135001	223	2087											
HERC1	8925	genome.wustl.edu	37	chr15	63908868	63908868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcgaggcaggcagaagGgttaaaaaggaacctgtaaa	16	7	12	6	1	1	1	1	0	0	1	2	3	1	2	1	4	1	4	1	4	7	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:63908868G>T	ENST00000443617.2	-	75	13789	c.13702C>A	c.(13702-13704)Cct>Act	p.P4568T		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4568	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGGCAGAAGGGTTAAAAAGG	0.378																																																	0													44	43	43					15																	63908868		1814	4078	5892	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13702C>A	15.37:g.63908868G>T	ENSP00000390158:p.Pro4568Thr		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P4568T	ENST00000443617.2	37	c.13702	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572041	0.86542	.	.	ENSG00000103657	ENST00000443617	D	0.82344	-1.6	5.07	5.07	0.68467	HECT (4);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93297	0.6673	10	0.62326	D	0.03	.	18.8416	0.92186	0.0:0.0:1.0:0.0	.	4568	Q15751	HERC1_HUMAN	T	4568	ENSP00000390158:P4568T	ENSP00000390158:P4568T	P	-	1	0	HERC1	61695921	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.929000	0.87595	2.505000	0.84491	0.655000	0.94253	CCT	HERC1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000103657		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1		0	69	0	G	NM_003922		63908868	-1			no_errors	ENST00000443617	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	63908868	G	T	63908868	3	4	7	1	0	0	0	0	1	0	0	0	7084	1232	43	3	899	3	HERC1	15	63908868	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	29512477	63908868	38622524	224	2088											
SMAD6	4091	genome.wustl.edu	37	chr15	66995607	66995607	+	Frame_Shift_Del	DEL	C	C	-																															aggatatcgtatgttcaggtCcaaacgctcggggctggtgc																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:66995607delC	ENST00000288840.5	+	1	1042	c.11delC	c.(10-12)tccfs	p.S4fs	SMAD6_ENST00000457357.2_Frame_Shift_Del_p.S4fs	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	4					BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						ATGTTCAGGTCCAAACGCTCG	0.721																																					Esophageal Squamous(179;72 2004 22333 39628 47290)												0													5	4	4					15																	66995607		1746	3608	5354	SO:0001589	frameshift_variant	0			BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"SMADs"	6772	protein-coding gene	gene with protein product		602931	"MAD, mothers against decapentaplegic homolog 6 (Drosophila)", "SMAD, mothers against DPP homolog 6 (Drosophila)"	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.11delC	15.37:g.66995607delC	ENSP00000288840:p.Ser4fs		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Frame_Shift_Del	DEL	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.K5fs	ENST00000288840.5	37	c.11	CCDS10221.1	15																																																																																			SMAD6	-	NULL	ENSG00000137834		0.721	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD6	HGNC	protein_coding	OTTHUMT00000256953.2		0	99	0	C	NM_005585		66995607	1	tier1		no_errors	ENST00000288840	ensembl	human	known	74_37	frame_shift_del	70.65	27	65	DEL	1.000	-	-	66995607	C	-	66995607	7	5	7	1	0	1	0	1	0	0	0	0	14807	855	30	0	13	0	SMAD6	15	66995607	Frame_Shift_Del	DEL	C	TCGA-2H-A9GL-01A-12D-A37C-09	3086739	66995607	35535785	225	2089											
SMAD3	4088	genome.wustl.edu	37	chr15	67479750	67479750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagttcgctgccctcctgGcccagtcggtcaaccagggc	6	7	13	15	2	1	0	1	0	0	0	4	1	2	1	4	4	2	2	4	4	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:67479750G>T	ENST00000327367.4	+	8	1367	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	SMAD3_ENST00000537194.2_Missense_Mutation_p.A158S|SMAD3_ENST00000439724.3_Missense_Mutation_p.A309S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A248S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	353	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TGCCCTCCTGGCCCAGTCGGT	0.572																																																	0													127	111	116					15																	67479750		2201	4299	6500	SO:0001583	missense	0			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1057G>T	15.37:g.67479750G>T	ENSP00000332973:p.Ala353Ser		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.A353S	ENST00000327367.4	37	c.1057	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442076	0.25987	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	5.41	5.41	0.78517	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.103873	0.64402	D	0.000003	D	0.93677	0.7980	N	0.02802	-0.49	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	D	0.90365	0.4376	10	0.02654	T	1	.	19.5608	0.95371	0.0:0.0:1.0:0.0	.	309;353	B7Z4Z5;P84022	.;SMAD3_HUMAN	S	353;353;248;309;158	ENSP00000332973:A353S;ENSP00000437757:A248S;ENSP00000401133:A309S;ENSP00000445348:A158S	ENSP00000332973:A353S	A	+	1	0	SMAD3	65266804	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.662000	0.83803	2.698000	0.92095	0.561000	0.74099	GCC	SMAD3	-	pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000166949		0.572	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	-	0	40	0	G	NM_005902		67479750	1	tier1	-	no_errors	ENST00000327367	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	T	T	67479750	G	T	67479750	3	4	7	1	0	0	0	0	1	0	0	0	14804	1203	42	3	1165	3	SMAD3	15	67479750	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	484143	67479750	35051642	226	2090											
MAP2K5	5607	genome.wustl.edu	37	chr15	68061972	68061972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccagttggagagttctcGgagccatttgtacatttcat	8	15	9	9	1	2	1	1	0	1	1	4	3	3	2	2	2	2	3	2	2	1	6	rs149823125		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:68061972G>A	ENST00000178640.5	+	20	1794	c.1167G>A	c.(1165-1167)tcG>tcA	p.S389S	MAP2K5_ENST00000354498.5_Silent_p.S353S|MAP2K5_ENST00000395476.2_Silent_p.S379S|MAP2K5_ENST00000340972.4_Silent_p.S199S	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	389	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GAGAGTTCTCGGAGCCATTTG	0.463																																																	0								G	,,	0,4400		0,0,2200	139	118	125		1059,1137,1167	-2.5	0.9	15	dbSNP_134	125	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	MAP2K5	NM_001206804.1,NM_002757.3,NM_145160.2	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	353/413,379/439,389/449	68061972	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	0			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.1167G>A	15.37:g.68061972G>A			B4DE43|Q92961|Q92962	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S389	ENST00000178640.5	37	c.1167	CCDS10224.1	15																																																																																			MAP2K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000137764		0.463	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	-	0	53	0	G	NM_145162		68061972	1	tier1	rs149823125	no_errors	ENST00000178640	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.719	A	A	68061972	G	A	68061972	2	1	7	1	0	0	0	0	0	0	0	1	9278	1103	39	1		1	MAP2K5	15	68061972	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	582222	68061972	34469420	227	2091											
EDC3	80153	genome.wustl.edu	37	chr15	74963903	74963903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggaaacggcaacatccTggctcttcacatctgtcctc	8	9	10	14	2	3	0	1	0	2	0	6	1	5	1	2	4	2	2	2	4	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:74963903T>G	ENST00000315127.4	-	3	558	c.377A>C	c.(376-378)cAg>cCg	p.Q126P	EDC3_ENST00000426797.3_Missense_Mutation_p.Q126P|EDC3_ENST00000568176.1_Missense_Mutation_p.Q126P	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	126					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGCAACATCCTGGCTCTTCAC	0.527																																																	0													142	122	129					15																	74963903		2197	4296	6493	SO:0001583	missense	0			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.377A>C	15.37:g.74963903T>G	ENSP00000320503:p.Gln126Pro		B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.Q126P	ENST00000315127.4	37	c.377	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812294	0.32053	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.45	5.45	0.79879	.	0.287809	0.33813	N	0.004528	T	0.22936	0.0554	L	0.27053	0.805	0.27906	N	0.938805	P	0.38335	0.627	B	0.32022	0.139	T	0.16305	-1.0407	9	0.37606	T	0.19	0.0	10.8011	0.46489	0.0:0.0:0.1584:0.8416	.	126	Q96F86	EDC3_HUMAN	P	126	.	ENSP00000320503:Q126P	Q	-	2	0	EDC3	72750956	1.000000	0.71417	0.934000	0.37439	0.581000	0.36288	4.086000	0.57664	2.071000	0.62044	0.533000	0.62120	CAG	EDC3	-	NULL	ENSG00000179151		0.527	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1		0	42	0	T	NM_025083		74963903	-1			no_errors	ENST00000315127	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.382	G	G	74963903	T	G	74963903	3	3	7	1	0	0	0	0	1	0	0	0	4921	1580	55	4	1169	4	EDC3	15	74963903	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	6901931	74963903	27567489	228	2092											
DET1	55070	genome.wustl.edu	37	chr15	89070882	89070882	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagctgagcagggaaactGaacttcactgtgcagggtag	13	7	14	7	0	1	3	1	2	0	1	1	4	1	4	0	2	5	4	0	2	4	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr15:89070882G>A	ENST00000268148.8	-	3	1364	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	DET1_ENST00000564406.1_Nonsense_Mutation_p.Q418*|DET1_ENST00000444300.1_Nonsense_Mutation_p.Q418*	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	407						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGGGAAACTGAACTTCACTG	0.438																																																	0													92	88	89					15																	89070882		1900	4124	6024	SO:0001587	stop_gained	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1219C>T	15.37:g.89070882G>A	ENSP00000268148:p.Gln407*		B3KNN6|Q2VPC0|Q9NWD5	Nonsense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.Q418*	ENST00000268148.8	37	c.1252	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.833874	0.98516	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.1785	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	418;407	.	ENSP00000268148:Q407X	Q	-	1	0	DET1	86871886	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.327000	0.96396	2.793000	0.96121	0.655000	0.94253	CAG	DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.438	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	-	0	55	0	G	NM_017996		89070882	-1	tier1	-	no_errors	ENST00000444300	ensembl	human	known	74_37	nonsense	30.43	31	14	SNP	1.000	A	A	89070882	G	A	89070882	4	1	7	1	0	0	0	0	0	1	0	0	4464	1299	45	3	445	3	DET1	15	89070882	Nonsense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	14106979	89070882	13460510	229	2093											
CAPNS2	84290	genome.wustl.edu	37	chr16	55600896	55600896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggcctcagaaagtgaGgaagttaggcgatttcggca	11	8	16	6	2	1	2	1	1	0	1	2	5	1	4	1	5	0	2	1	5	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:55600896G>T	ENST00000457326.2	+	1	313	c.228G>T	c.(226-228)gaG>gaT	p.E76D	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	76					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CAGAAAGTGAGGAAGTTAGGC	0.483																																																	0													75	76	76					16																	55600896		1978	4175	6153	SO:0001583	missense	0			AY052551	CCDS54010.1	16q12.2	2013-01-10						"EF-hand domain containing"	16371	protein-coding gene	gene with protein product						11853546	Standard	NM_032330		Approved	MGC12536, MGC14804	uc002eid.1	Q96L46		ENST00000457326.2:c.228G>T	16.37:g.55600896G>T	ENSP00000400882:p.Glu76Asp		Q9BPV4	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.E76D	ENST00000457326.2	37	c.228	CCDS54010.1	16	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729768	0.30684	.	.	ENSG00000256812	ENST00000457326	T	0.55588	0.51	5.98	0.387	0.16259	EF-hand-like domain (1);	.	.	.	.	T	0.24851	0.0603	N	0.12961	0.28	0.27944	N	0.937391	B	0.02656	0.0	B	0.04013	0.001	T	0.21759	-1.0236	9	0.07990	T	0.79	.	1.7095	0.02889	0.1799:0.2059:0.4034:0.2108	.	76	Q96L46	CPNS2_HUMAN	D	76	ENSP00000400882:E76D	ENSP00000400882:E76D	E	+	3	2	CAPNS2	54158397	0.974000	0.33945	0.998000	0.56505	0.998000	0.95712	0.030000	0.13688	0.122000	0.18314	0.650000	0.86243	GAG	CAPNS2	-	NULL	ENSG00000256812		0.483	CAPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS2	HGNC	protein_coding	OTTHUMT00000396391.1		0	52	0	G	NM_032330		55600896	1			no_errors	ENST00000457326	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.992	T	T	55600896	G	T	55600896	3	4	7	1	0	0	0	0	1	0	0	0	2641	991	35	3	230	3	CAPNS2	16	55600896	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09		55600896	34753857	230	2094											
NLRC5	84166	genome.wustl.edu	37	chr16	57092939	57092939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtacctgctggagacactgCcctcctgcccacgtgtccgg	5	9	11	16	2	0	1	0	0	0	1	2	2	2	1	5	2	4	2	5	2	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:57092939C>T	ENST00000262510.6	+	29	4111	c.3886C>T	c.(3886-3888)Ccc>Tcc	p.P1296S	RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.P1267S|NLRC5_ENST00000436936.1_Missense_Mutation_p.P1296S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1267S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1296					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAGACACTGCCCTCCTGCCC	0.572																																																	0													227	207	214					16																	57092939		2198	4300	6498	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3886C>T	16.37:g.57092939C>T	ENSP00000262510:p.Pro1296Ser		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.P1296S	ENST00000262510.6	37	c.3886	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.063|0.063	-1.218980|-1.218980	0.01542|0.01542	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805;ENST00000399221|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110	.|T;T;T;T;T	.|0.50277	.|0.75;5.67;0.75;5.67;0.75	4.73|4.73	2.63|2.63	0.31362|0.31362	.|.	.|.	.|.	.|.	.|.	T|T	0.23210|0.23210	0.0561|0.0561	N|N	0.11000|0.11000	0.08|0.08	0.21697|0.21697	N|N	0.999585|0.999585	.|B;B;B;B	.|0.16166	.|0.004;0.007;0.016;0.004	.|B;B;B;B	.|0.16289	.|0.004;0.015;0.01;0.003	T|T	0.21759|0.21759	-1.0236|-1.0236	5|9	.|0.11485	.|T	.|0.65	.|.	6.0599|6.0599	0.19832|0.19832	0.0:0.7637:0.0:0.2363|0.0:0.7637:0.0:0.2363	.|.	.|980;1267;1296;1296	.|Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	V|S	1047;47|1296;1267;1296;739;1267;772	.|ENSP00000262510:P1296S;ENSP00000308886:P1267S;ENSP00000389739:P1296S;ENSP00000441727:P1267S;ENSP00000441597:P772S	.|ENSP00000262510:P1296S	A|P	+|+	2|1	0|0	NLRC5|NLRC5	55650440|55650440	0.409000|0.409000	0.25368|0.25368	0.789000|0.789000	0.31954|0.31954	0.010000|0.010000	0.07245|0.07245	0.619000|0.619000	0.24388|0.24388	1.219000|1.219000	0.43474|0.43474	-0.279000|-0.279000	0.10071|0.10071	GCC|CCC	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000140853		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0	36	0	C	NM_032206		57092939	1			no_errors	ENST00000262510	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.779	T	T	57092939	C	T	57092939	3	4	7	1	0	0	0	0	1	0	0	0	10509	739	26	3	3992	3	NLRC5	16	57092939	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1492043	57092939	33261814	231	2095											
PDPR	55066	genome.wustl.edu	37	chr16	70187460	70187460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtggacgagagtctcGggtgaaattagagaaggtac	13	8	16	4	2	1	3	0	1	1	2	2	7	1	5	0	4	1	1	0	4	5	2	rs543584154		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr16:70187460G>C	ENST00000288050.4	+	18	3176	c.2219G>C	c.(2218-2220)cGg>cCg	p.R740P	PDPR_ENST00000567046.1_Missense_Mutation_p.R98P|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.R740P|PDPR_ENST00000542659.1_Missense_Mutation_p.R85P|PDPR_ENST00000398122.3_Missense_Mutation_p.R640P|RP11-296I10.3_ENST00000566989.1_RNA	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	740					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGAGAGTCTCGGGTGAAATTA	0.468																																																	0													61	64	63					16																	70187460		1917	4142	6059	SO:0001583	missense	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2219G>C	16.37:g.70187460G>C	ENSP00000288050:p.Arg740Pro		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.R740P	ENST00000288050.4	37	c.2219	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592511	0.86953	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000542659	D;D;D	0.83335	-1.71;-1.71;-1.71	6.04	6.04	0.98038	.	0.148889	0.64402	D	0.000018	D	0.89347	0.6689	M	0.88105	2.93	0.80722	D	1	D	0.54601	0.967	P	0.54431	0.752	D	0.88480	0.3068	10	0.34782	T	0.22	.	12.7334	0.57210	0.0818:0.0:0.9182:0.0	.	740	Q8NCN5	PDPR_HUMAN	P	740;640;85	ENSP00000288050:R740P;ENSP00000381190:R640P;ENSP00000441690:R85P	ENSP00000288050:R740P	R	+	2	0	PDPR	68744961	1.000000	0.71417	0.998000	0.56505	0.822000	0.46500	7.903000	0.87398	2.873000	0.98535	0.561000	0.74099	CGG	PDPR	-	NULL	ENSG00000090857		0.468	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	-	0	107	0	G	NM_017990		70187460	1	tier1	-	no_errors	ENST00000288050	ensembl	human	known	74_37	missense	8.79	83	8	SNP	1.000	C	C	70187460	G	C	70187460	3	2	7	1	0	0	0	0	1	0	0	0	11728	1116	39	5	2281	5	PDPR	16	70187460	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	13094521	70187460	20167293	232	2096											
PSMB6	5694	genome.wustl.edu	37	chr17	4700750	4700750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtcctacatcgccaatcGagtgactgacaagctgacac	12	7	9	13	2	0	3	0	3	0	0	3	4	1	3	2	1	2	1	2	1	3	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:4700750G>A	ENST00000270586.3	+	3	239	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	63					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						ATCGCCAATCGAGTGACTGAC	0.547																																																	0													167	144	152					17																	4700750		2203	4300	6503	SO:0001583	missense	0			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.188G>A	17.37:g.4700750G>A	ENSP00000270586:p.Arg63Gln		Q96J55	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.R63Q	ENST00000270586.3	37	c.188	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521574	0.64747	.	.	ENSG00000142507	ENST00000270586	T	0.22336	1.96	5.65	4.68	0.58851	Proteasome, beta-type subunit, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.52126	1.63	0.54753	D	0.999987	D	0.89917	1.0	D	0.85130	0.997	T	0.12400	-1.0549	10	0.51188	T	0.08	-2.1169	12.3576	0.55184	0.0802:0.0:0.9198:0.0	.	63	P28072	PSB6_HUMAN	Q	63	ENSP00000270586:R63Q	ENSP00000270586:R63Q	R	+	2	0	PSMB6	4647708	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	7.802000	0.85969	1.636000	0.50526	-0.136000	0.14681	CGA	PSMB6	-	pfam_Proteasome_sua/b	ENSG00000142507		0.547	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2		0	31	0	G	NM_002798		4700750	1			no_errors	ENST00000270586	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	4700750	G	A	4700750	3	1	7	1	0	0	0	0	1	0	0	0	12723	1058	37	1	198	1	PSMB6	17	4700750	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09		4700750	76494460	233	2097											
WSCD1	23302	genome.wustl.edu	37	chr17	6021339	6021339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaaggaccactggcggagCcgacgcaccatctgtgtcaa	12	5	12	12	3	2	0	1	0	1	0	2	4	2	2	3	3	1	1	3	3	3	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:6021339C>T	ENST00000574946.1	+	8	1596	c.1206C>T	c.(1204-1206)agC>agT	p.S402S	WSCD1_ENST00000574232.1_Silent_p.S402S|WSCD1_ENST00000573634.1_Silent_p.S286S|WSCD1_ENST00000539421.1_Silent_p.S402S|WSCD1_ENST00000317744.5_Silent_p.S402S			Q658N2	WSCD1_HUMAN	WSC domain containing 1	402						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACTGGCGGAGCCGACGCACCA	0.557																																																	0													92	88	89					17																	6021339		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1206C>T	17.37:g.6021339C>T			A8K0N8|D3DTM3|O60276|Q96G45	Silent	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.S402	ENST00000574946.1	37	c.1206	CCDS32538.1	17																																																																																			WSCD1	-	superfamily_P-loop_NTPase	ENSG00000179314		0.557	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4		0	55	0	C	NM_015253		6021339	1			no_errors	ENST00000317744	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	6021339	C	T	6021339	2	4	7	1	0	0	0	0	0	0	0	1	17455	738	26	3		3	WSCD1	17	6021339	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1320589	6021339	75173871	234	2098											
TP53	7157	genome.wustl.edu	37	chr17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcttgcggagattctcttCctctgtgcgccggtctctcc	2	16	9	14	3	4	1	0	0	4	1	8	2	6	1	3	2	2	0	3	2	0	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E286K|TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	GRCh37	CM076567	TP53	M							95	81	86					17																	7577082		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E286K	ENST00000269305.4	37	c.856	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	41	0	C	NM_000546		7577082	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	7577082	C	T	7577082	3	4	7	1	0	0	0	0	1	0	0	0	16429	864	30	3	430	3	TP53	17	7577082	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1555743	7577082	73618128	235	2099											
TP53	7157	genome.wustl.edu	37	chr17	7577511	7577512	+	Frame_Shift_Ins	INS	-	-	G																															tcctgacctggagtcttccaINSgtgtgatgatggtgaggatg																								rs28934577		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:7577511_7577512insG	ENST00000269305.4	-	7	958_959	c.769_770insC	c.(769-771)ctgfs	p.L257fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L257fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L257fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	257	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> P (in sporadic cancers; somatic mutation).|L -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934577).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.L257Q(8)|p.L257P(8)|p.L257V(4)|p.L257fs*6(2)|p.L257fs*88(1)|p.?(1)|p.L257fs*7(1)|p.T256fs*87(1)|p.L257R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAGTCTTCCAGTGTGATGATG	0.584		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	35	Substitution - Missense(21)|Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - Frameshift(1)|Unknown(1)	large_intestine(5)|central_nervous_system(4)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|pancreas(3)|upper_aerodigestive_tract(2)|liver(2)|stomach(1)|biliary_tract(1)|kidney(1)|breast(1)|skin(1)	GRCh37	CD941800|CM941332	TP53	D|M	rs28934577																																			SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.770dupC	17.37:g.7577512_7577512dupG	ENSP00000269305:p.Leu257fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L257fs	ENST00000269305.4	37	c.770_769	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.584	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	47	0	-	NM_000546		7577512	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	67.50	13	27	INS	1.000:0.973	G	G	7577512	-	G	7577511	7	5	7	1	0	1	1	0	0	0	0	0	16429	188	7	0	520	0	TP53	17	7577511	Frame_Shift_Ins	INS	-	TCGA-2H-A9GL-01A-12D-A37C-09	429	7577511	73617699	236	2100											
GAS7	8522	genome.wustl.edu	37	chr17	9837516	9837516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtgaacttctgcttcGtccgccaggctcttcttcac	5	14	9	13	2	4	2	1	2	3	0	6	2	5	2	2	2	2	2	2	2	1	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:9837516G>A	ENST00000432992.2	-	9	1012	c.852C>T	c.(850-852)gaC>gaT	p.D284D	GAS7_ENST00000585266.1_Silent_p.D224D|GAS7_ENST00000579158.1_Silent_p.D220D|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Silent_p.D220D|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000323816.4_Silent_p.D224D|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000580865.1_Silent_p.D144D|GAS7_ENST00000542249.1_Silent_p.D220D	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	284	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CTTCTGCTTCGTCCGCCAGGC	0.537			T	MLL	AML*																																			Dom	yes		17	17p	8522	growth arrest-specific 7		L	0													112	82	92					17																	9837516		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.852C>T	17.37:g.9837516G>A			A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom	p.D284	ENST00000432992.2	37	c.852	CCDS11152.1	17																																																																																			GAS7	-	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	ENSG00000007237		0.537	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	HGNC	protein_coding	OTTHUMT00000439883.1	-	0	44	0	G	NM_003644, NM_201432, NM_201433		9837516	-1	tier1	-	no_errors	ENST00000432992	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.672	A	A	9837516	G	A	9837516	2	1	7	1	0	0	0	0	0	0	0	1	6275	1136	40	1		1	GAS7	17	9837516	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	2260005	9837516	71357694	237	2101											
MYH1	4619	genome.wustl.edu	37	chr17	10404070	10404070	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcttttcaaggtttccCtgcattcaaaaagtggtaga	12	13	7	9	0	3	1	2	0	1	1	4	1	4	1	1	2	1	3	1	2	4	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:10404070C>A	ENST00000226207.5	-	28	3833		c.e28-1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAAGGTTTCCCTGCATTCAAA	0.423																																																	0													116	105	109					17																	10404070		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3739-1G>T	17.37:g.10404070C>A			Q14CA4|Q9Y622	Splice_Site	SNP	-	e26-1	ENST00000226207.5	37	c.3739-1	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838578	0.91117	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6413	0.95758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10344795	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.797000	0.85911	2.716000	0.92895	0.650000	0.86243	.	MYH1	-	-	ENSG00000109061		0.423	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0	69	0	C	NM_005963	Intron	10404070	-1			no_errors	ENST00000226207	ensembl	human	known	74_37	splice_site	5.45	52	3	SNP	1.000	A	A	10404070	C	A	10404070	5	1	7	1	0	0	0	0	0	0	1	0	10067	695	24	3	2133	3	MYH1	17	10404070	Splice_Site	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	566554	10404070	70791140	238	2102											
NCOR1	9611	genome.wustl.edu	37	chr17	16042327	16042327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatataaattacttgtcCttaaagatctccttttcatg	14	17	3	7	0	2	1	1	0	1	1	4	1	3	1	2	0	1	0	2	0	8	8			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:16042327C>T	ENST00000268712.3	-	12	1604	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	NCOR1_ENST00000395851.1_Silent_p.K449K|RNU6-862P_ENST00000362804.1_RNA|NCOR1_ENST00000395848.1_Silent_p.K340K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	449	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		attaCTTGTCCTTAAAGATCT	0.294																																																	0													29	27	28					17																	16042327		2183	4255	6438	SO:0001819	synonymous_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1347G>A	17.37:g.16042327C>T			B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K449	ENST00000268712.3	37	c.1347	CCDS11175.1	17																																																																																			NCOR1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000141027		0.294	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5		0	25	0	C	NM_006311		16042327	-1			no_errors	ENST00000268712	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.998	T	T	16042327	C	T	16042327	2	4	7	1	0	0	0	0	0	0	0	1	10274	680	24	3		3	NCOR1	17	16042327	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	5638257	16042327	65152883	239	2103											
CCDC144A	9720	genome.wustl.edu	37	chr17	16638500	16638500	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagattctttctgaaaaacTttctaatgctgaaagtaaaa	16	14	6	5	0	3	3	0	3	3	1	3	4	3	3	0	0	2	2	0	0	6	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:16638500T>C	ENST00000360524.8	+	12	2991	c.2915T>C	c.(2914-2916)cTt>cCt	p.L972P	CCDC144A_ENST00000443444.2_Missense_Mutation_p.L972P|CCDC144A_ENST00000456009.1_Missense_Mutation_p.L692P|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.L972P|CCDC144A_ENST00000399273.1_Missense_Mutation_p.L972P	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	972																	TCTGAAAAACTTTCTAATGCT	0.373																																																	0													2	1	2					17																	16638500		1262	2681	3943	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.2915T>C	17.37:g.16638500T>C	ENSP00000353717:p.Leu972Pro		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.L972P	ENST00000360524.8	37	c.2915	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.10|11.10	1.538810|1.538810	0.27475|0.27475	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000328495|ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	.|T;T;T;T	.|0.32753	.|1.44;1.44;1.44;1.44	2.08|2.08	2.08|2.08	0.27032|0.27032	.|.	.|.	.|.	.|.	.|.	T|T	0.46288|0.46288	0.1385|0.1385	L|L	0.60455|0.60455	1.87|1.87	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	T|T	0.41928|0.41928	-0.9481|-0.9481	5|9	.|0.87932	.|D	.|0	.|.	7.774|7.774	0.29026|0.29026	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|692;972	.|A2RUR9-3;A2RUR9	.|.;C144A_HUMAN	L|P	456|972;972;972;692	.|ENSP00000382215:L972P;ENSP00000439262:L972P;ENSP00000353717:L972P;ENSP00000394201:L692P	.|ENSP00000353717:L972P	F|L	+|+	1|2	0|0	CCDC144A|CCDC144A	16579225|16579225	0.998000|0.998000	0.40836|0.40836	0.684000|0.684000	0.30055|0.30055	0.261000|0.261000	0.26267|0.26267	3.998000|3.998000	0.57024|0.57024	0.952000|0.952000	0.37798|0.37798	0.324000|0.324000	0.21423|0.21423	TTT|CTT	CCDC144A	-	NULL	ENSG00000170160		0.373	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	-	0	27	0	T			16638500	1	tier1	-	no_errors	ENST00000360524	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	C	C	16638500	T	C	16638500	3	2	7	1	0	0	0	0	1	0	0	0	2784	1609	56	4	2961	4	CCDC144A	17	16638500	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	596173	16638500	64556710	240	2104											
NT5M	56953	genome.wustl.edu	37	chr17	17209944	17209944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagctgtcaaggagatgGccagcctacaaaagtaagtt	14	8	12	7	0	1	1	1	0	0	1	1	3	1	2	2	3	3	3	2	3	6	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:17209944G>T	ENST00000389022.4	+	2	571	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S		NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	119					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CAAGGAGATGGCCAGCCTACA	0.517																																																	0													85	89	88					17																	17209944		2203	4300	6503	SO:0001583	missense	0			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.355G>T	17.37:g.17209944G>T	ENSP00000373674:p.Ala119Ser			Missense_Mutation	SNP	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	p.A119S	ENST00000389022.4	37	c.355	CCDS32581.1	17	.	.	.	.	.	.	.	.	.	.	G	10.17	1.275571	0.23307	.	.	ENSG00000205309	ENST00000446264;ENST00000389022	T	0.43294	0.95	5.26	5.26	0.73747	HAD-like domain (2);	0.258334	0.43919	N	0.000507	T	0.25457	0.0619	N	0.12502	0.225	0.47862	D	0.999533	B;B;B	0.17038	0.0;0.0;0.02	B;B;B	0.25506	0.012;0.005;0.061	T	0.08659	-1.0711	10	0.08837	T	0.75	-21.1764	14.4728	0.67529	0.0:0.0:0.8527:0.1472	.	119;119;119	Q2I378;Q9NPB1;F6S3X3	.;NT5M_HUMAN;.	S	119	ENSP00000373674:A119S	ENSP00000373674:A119S	A	+	1	0	NT5M	17150669	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.454000	0.60068	2.451000	0.82905	0.537000	0.68136	GCC	NT5M	-	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	ENSG00000205309		0.517	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5M	HGNC	protein_coding	OTTHUMT00000446045.1		0	43	0	G			17209944	1			no_errors	ENST00000389022	ensembl	human	known	74_37	missense	7.41	24	2	SNP	1.000	T	T	17209944	G	T	17209944	3	4	7	1	0	0	0	0	1	0	0	0	10733	1203	42	3	361	3	NT5M	17	17209944	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	571444	17209944	63985266	241	2105											
SLC5A10	125206	genome.wustl.edu	37	chr17	18872717	18872717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatggtggtgggggctGtcatcctgacaatcaaaggt	9	11	13	8	0	4	1	4	1	0	0	5	1	5	1	1	5	0	1	1	5	2	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:18872717G>A	ENST00000395645.3	+	7	640	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	SLC5A10_ENST00000417251.2_Missense_Mutation_p.V208I|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V208I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	208					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGTGGGGGCTGTCATCCTGAC	0.642																																																	0													53	61	58					17																	18872717		2178	4282	6460	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.622G>A	17.37:g.18872717G>A	ENSP00000379007:p.Val208Ile		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V208I	ENST00000395645.3	37	c.622	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	G	4.636	0.118229	0.08881	.	.	ENSG00000154025	ENST00000395647;ENST00000417251;ENST00000395645	D;D;D	0.87256	-2.23;-2.23;-2.23	4.94	0.623	0.17654	.	0.272597	0.29145	N	0.013001	T	0.69655	0.3135	N	0.04090	-0.28	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.003;0.006;0.001	T	0.55885	-0.8070	10	0.27785	T	0.31	.	10.6444	0.45610	0.3575:0.0:0.6425:0.0	.	208;208;208	B4DPI0;A0PJK1;A0PJK1-4	.;SC5AA_HUMAN;.	I	208	ENSP00000379008:V208I;ENSP00000401875:V208I;ENSP00000379007:V208I	ENSP00000379007:V208I	V	+	1	0	SLC5A10	18813442	0.002000	0.14202	0.964000	0.40570	0.349000	0.29174	0.004000	0.13106	0.231000	0.21079	-0.254000	0.11334	GTC	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.642	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0	49	0	G	NM_152351		18872717	1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.186	A	A	18872717	G	A	18872717	3	1	7	1	0	0	0	0	1	0	0	0	14707	1377	48	3	648	3	SLC5A10	17	18872717	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	1662773	18872717	62322493	242	2106											
UNC119	9094	genome.wustl.edu	37	chr17	26875686	26875686	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttaaacctgacaaagtcGatcttgtagatattctcctc	12	14	5	10	1	3	2	0	1	3	1	6	3	3	2	2	0	1	1	2	0	5	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:26875686G>T	ENST00000335765.4	-	2	368	c.258C>A	c.(256-258)atC>atA	p.I86I	UNC119_ENST00000470125.1_5'UTR|UNC119_ENST00000484980.1_5'UTR|UNC119_ENST00000301032.4_Silent_p.I86I	NM_005148.3	NP_005139.1	Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	86					cytokinesis, completion of separation (GO:0007109)|endocytosis (GO:0006897)|lipoprotein transport (GO:0042953)|negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of clathrin-mediated endocytosis (GO:1900186)|phototransduction (GO:0007602)|positive regulation of protein tyrosine kinase activity (GO:0061098)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	lipid binding (GO:0008289)			breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TGACAAAGTCGATCTTGTAGA	0.552											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97	97	97					17																	26875686		2203	4300	6503	SO:0001819	synonymous_variant	0			U40998	CCDS11233.1, CCDS11234.1	17q11.2	2014-09-17	2001-11-28		ENSG00000109103	ENSG00000109103			12565	protein-coding gene	gene with protein product	"POC7 centriolar protein homolog A (Chlamydomonas)"	604011	"unc119 (C.elegans) homolog"			8576185, 9538874	Standard	NM_005148		Approved	HRG4, POC7, POC7A	uc002hbk.2	Q13432	OTTHUMG00000132606	ENST00000335765.4:c.258C>A	17.37:g.26875686G>T		790	A8K8G4|F1T095|O95126	Silent	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set	p.I86	ENST00000335765.4	37	c.258	CCDS11233.1	17																																																																																			UNC119	-	pfam_GMP_PDE_delta,superfamily_Ig_E-set	ENSG00000109103		0.552	UNC119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC119	HGNC	protein_coding	OTTHUMT00000255842.2	-	0	52	0	G			26875686	-1	tier1	-	no_errors	ENST00000335765	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.236	T	T	26875686	G	T	26875686	2	4	7	1	0	0	0	0	0	0	0	1	17031	1048	37	2		2	UNC119	17	26875686	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	8002969	26875686	54319524	243	2107											
RFFL	117584	genome.wustl.edu	37	chr17	33353417	33353417	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgtgtttgcaaagtgAgccccacaggacttgcagct	8	9	12	12	1	0	1	0	1	0	0	0	2	0	2	3	2	4	4	3	2	1	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:33353417A>G	ENST00000315249.7	-	2	378	c.156T>C	c.(154-156)gcT>gcC	p.A52A	RFFL_ENST00000413582.2_Silent_p.A52A|RFFL_ENST00000447669.2_Silent_p.A52A|RFFL_ENST00000378516.2_Silent_p.A52A|RFFL_ENST00000584655.1_Silent_p.A52A|RFFL_ENST00000394597.2_Silent_p.A52A|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Silent_p.A52A|RFFL_ENST00000415395.2_Silent_p.A52A					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TTGCAAAGTGAGCCCCACAGG	0.597																																																	0													93	65	74					17																	33353417		2203	4300	6503	SO:0001819	synonymous_variant	0			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.156T>C	17.37:g.33353417A>G				Silent	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.A52	ENST00000315249.7	37	c.156	CCDS11286.1	17																																																																																			RFFL	-	superfamily_Znf_FYVE_PHD	ENSG00000092871		0.597	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2	-	0	40	0	A	NM_057178		33353417	-1	tier1	-	no_errors	ENST00000315249	ensembl	human	known	74_37	silent	14.89	40	7	SNP	0.798	G	G	33353417	A	G	33353417	2	3	7	1	0	0	0	0	0	0	0	1	13295	291	11	4		4	RFFL	17	33353417	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	6477731	33353417	47841793	244	2108											
KRT12	3859	genome.wustl.edu	37	chr17	39020020	39020020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtttcatactgcgcccGcatatcattgaggagcctgg	8	11	12	10	2	2	1	2	1	0	0	2	3	2	2	2	3	3	2	2	3	2	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:39020020G>A	ENST00000251643.4	-	4	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	302	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TACTGCGCCCGCATATCATTG	0.552																																																	0													57	59	58					17																	39020020		2203	4300	6503	SO:0001583	missense	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"-", "Intermediate filaments type I, keratins (acidic)"	6414	protein-coding gene	gene with protein product	"Meesmann corneal dystrophy"	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.904C>T	17.37:g.39020020G>A	ENSP00000251643:p.Arg302Trp		B2R9E0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R302W	ENST00000251643.4	37	c.904	CCDS11378.1	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210959	0.79240	.	.	ENSG00000187242	ENST00000251643	D	0.93488	-3.23	5.58	1.98	0.26296	Filament (1);	0.000000	0.56097	D	0.000036	D	0.97052	0.9037	M	0.92833	3.35	0.50039	D	0.999846	D	0.89917	1.0	D	0.97110	1.0	D	0.97090	0.9790	10	0.87932	D	0	.	13.1781	0.59639	0.0:0.0:0.4297:0.5703	.	302	Q99456	K1C12_HUMAN	W	302	ENSP00000251643:R302W	ENSP00000251643:R302W	R	-	1	2	KRT12	36273546	0.997000	0.39634	0.990000	0.47175	0.977000	0.68977	0.280000	0.18790	0.422000	0.26005	-0.467000	0.05162	CGG	KRT12	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	ENSG00000187242		0.552	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2		0	48	0	G	NM_000223		39020020	-1			no_errors	ENST00000251643	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	39020020	G	A	39020020	3	1	7	1	0	0	0	0	1	0	0	0	8476	1086	38	1	600	1	KRT12	17	39020020	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	5666603	39020020	42175190	245	2109											
TMUB2	79089	genome.wustl.edu	37	chr17	42266601	42266601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgtcctccacctggggCatgtggaccacctggtggca	6	8	12	15	1	0	0	0	0	0	0	3	1	3	1	6	5	0	2	6	5	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:42266601C>T	ENST00000587989.1	+	3	400	c.247C>T	c.(247-249)Cat>Tat	p.H83Y	TMUB2_ENST00000319511.6_Missense_Mutation_p.H63Y|TMUB2_ENST00000446571.3_Missense_Mutation_p.H63Y|TMUB2_ENST00000587172.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000590235.1_Missense_Mutation_p.H63Y|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Missense_Mutation_p.H63Y|TMUB2_ENST00000589785.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000592825.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000589856.1_Missense_Mutation_p.H63Y|TMUB2_ENST00000538716.2_Missense_Mutation_p.H83Y|ASB16-AS1_ENST00000585457.1_RNA			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	83						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACCTGGGGCATGTGGACCA	0.602																																																	0													100	94	96					17																	42266601		2203	4300	6503	SO:0001583	missense	0				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.247C>T	17.37:g.42266601C>T	ENSP00000466971:p.His83Tyr		B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.H83Y	ENST00000587989.1	37	c.247	CCDS54134.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375530	0.82682	.	.	ENSG00000168591	ENST00000446571;ENST00000357984;ENST00000538716;ENST00000319511	T;T;T;T	0.44083	0.93;0.95;0.94;0.95	4.68	4.68	0.58851	.	0.133462	0.52532	D	0.000080	T	0.54159	0.1841	L	0.44542	1.39	0.41778	D	0.989803	D;D;D;D	0.71674	0.99;0.998;0.997;0.967	P;D;D;P	0.66351	0.723;0.943;0.918;0.522	T	0.49588	-0.8924	10	0.31617	T	0.26	.	16.5035	0.84263	0.0:1.0:0.0:0.0	.	63;63;63;83	E7ESS3;Q71RG4-3;Q71RG4-4;Q71RG4	.;.;.;TMUB2_HUMAN	Y	63;63;83;63	ENSP00000413127:H63Y;ENSP00000350672:H63Y;ENSP00000444565:H83Y;ENSP00000313214:H63Y	ENSP00000313214:H63Y	H	+	1	0	TMUB2	39622127	0.613000	0.27009	1.000000	0.80357	0.963000	0.63663	2.880000	0.48530	2.399000	0.81585	0.555000	0.69702	CAT	TMUB2	-	NULL	ENSG00000168591		0.602	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMUB2	HGNC	protein_coding	OTTHUMT00000457711.1		0	35	0	C	NM_177441		42266601	1			no_errors	ENST00000538716	ensembl	human	known	74_37	missense	10.64	41	5	SNP	1.000	T	T	42266601	C	T	42266601	3	4	7	1	0	0	0	0	1	0	0	0	16312	710	25	3	253	3	TMUB2	17	42266601	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	3246581	42266601	38928609	246	2110											
GPATCH8	23131	genome.wustl.edu	37	chr17	42474987	42474987	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgacctgagaagatgggGtgaagtagtgggtgaaggtg	10	9	18	4	0	0	5	0	4	0	2	1	6	1	5	2	4	0	1	2	4	4	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:42474987G>C	ENST00000591680.1	-	8	4488	c.4458C>G	c.(4456-4458)caC>caG	p.H1486Q	GPATCH8_ENST00000434000.1_Missense_Mutation_p.H1408Q	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1486							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGAAGATGGGGTGAAGTAGTG	0.602																																																	0													83	72	76					17																	42474987		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.4458C>G	17.37:g.42474987G>C	ENSP00000467556:p.His1486Gln		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.H1486Q	ENST00000591680.1	37	c.4458	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872438	0.33069	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15952	2.38	5.34	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	N	0.25890	0.77	0.49798	D	0.999824	D	0.76494	0.999	D	0.83275	0.996	T	0.03221	-1.1059	10	0.15066	T	0.55	-13.4084	13.5969	0.61996	0.0762:0.0:0.9238:0.0	.	1486	Q9UKJ3	GPTC8_HUMAN	Q	1486;1408	ENSP00000395016:H1408Q	ENSP00000335486:H1486Q	H	-	3	2	GPATCH8	39830513	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.699000	0.47077	1.268000	0.44264	0.313000	0.20887	CAC	GPATCH8	-	NULL	ENSG00000186566		0.602	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0	47	0	G	NM_001002909		42474987	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	57.14	24	32	SNP	1.000	C	C	42474987	G	C	42474987	3	2	7	1	0	0	0	0	1	0	0	0	6620	1252	44	5	54	5	GPATCH8	17	42474987	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	208386	42474987	38720223	247	2111											
ACOX1	51	genome.wustl.edu	37	chr17	73947507	73947507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcatacctcaggcagttCactcaggtccccttgaccaa	11	9	6	15	0	4	1	4	1	0	0	5	1	5	1	4	2	2	2	4	2	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:73947507C>T	ENST00000301608.4	-	8	1156	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	ACOX1_ENST00000537812.1_Missense_Mutation_p.E328K|ACOX1_ENST00000293217.5_Missense_Mutation_p.E366K	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	366					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TCAGGCAGTTCACTCAGGTCC	0.502																																																	0													147	128	134					17																	73947507		2203	4300	6503	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1096G>A	17.37:g.73947507C>T	ENSP00000301608:p.Glu366Lys		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.E366K	ENST00000301608.4	37	c.1096	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409360	0.25378	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69926	-0.44;-0.44;-0.44	5.52	5.52	0.82312	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.046390	0.85682	D	0.000000	T	0.51753	0.1693	N	0.20445	0.575	0.80722	D	1	B;B;B;B	0.17465	0.022;0.015;0.001;0.001	B;B;B;B	0.18871	0.023;0.014;0.002;0.001	T	0.50541	-0.8816	10	0.07030	T	0.85	-15.9365	19.4355	0.94792	0.0:1.0:0.0:0.0	.	298;328;366;366	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	K	366;366;328;366;298	ENSP00000301608:E366K;ENSP00000293217:E366K;ENSP00000441257:E328K	ENSP00000293217:E366K	E	-	1	0	ACOX1	71459102	0.977000	0.34250	0.998000	0.56505	0.891000	0.51852	1.953000	0.40352	2.593000	0.87608	0.462000	0.41574	GAA	ACOX1	-	superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.502	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1		0	67	0	C			73947507	-1			no_errors	ENST00000293217	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	73947507	C	T	73947507	3	4	7	1	0	0	0	0	1	0	0	0	158	835	29	3	914	3	ACOX1	17	73947507	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	31472520	73947507	7247703	248	2112											
FN3K	64122	genome.wustl.edu	37	chr17	80708330	80708330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtggcctagagattgTccccgcgttgctccacgggg	4	12	14	11	3	0	1	0	0	0	1	2	2	2	1	4	3	1	3	4	3	1	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr17:80708330T>C	ENST00000300784.7	+	6	691	c.629T>C	c.(628-630)gTc>gCc	p.V210A	TBCD_ENST00000539345.2_5'Flank|TBCD_ENST00000397466.2_5'Flank|TBCD_ENST00000355528.4_5'Flank	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	210					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CTAGAGATTGTCCCCGCGTTG	0.592																																					Melanoma(10;391 597 14592 32548 32749)												0													112	99	103					17																	80708330		2203	4300	6503	SO:0001583	missense	0			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.629T>C	17.37:g.80708330T>C	ENSP00000300784:p.Val210Ala			Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.V210A	ENST00000300784.7	37	c.629	CCDS11818.1	17	.	.	.	.	.	.	.	.	.	.	t	12.65	2.000298	0.35320	.	.	ENSG00000167363	ENST00000300784	T	0.39997	1.05	3.96	3.96	0.45880	Protein kinase-like domain (1);	0.188956	0.45867	D	0.000333	T	0.23926	0.0579	N	0.16833	0.445	0.51767	D	0.999935	B	0.12013	0.005	B	0.23018	0.043	T	0.06917	-1.0800	9	.	.	.	-0.0021	7.6991	0.28613	0.0:0.0988:0.0:0.9012	.	210	Q9H479	FN3K_HUMAN	A	210	ENSP00000300784:V210A	.	V	+	2	0	FN3K	78301619	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	3.903000	0.56318	1.754000	0.51921	0.473000	0.43528	GTC	FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000167363		0.592	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	-	0	40	0	T	NM_022158		80708330	1	tier1	-	no_errors	ENST00000300784	ensembl	human	known	74_37	missense	36.51	40	23	SNP	1.000	C	C	80708330	T	C	80708330	3	2	7	1	0	0	0	0	1	0	0	0	5985	1667	58	4	651	4	FN3K	17	80708330	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	6760823	80708330	486880	249	2113											
CTAGE1	64693	genome.wustl.edu	37	chr18	19996550	19996550	+	5'Flank	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagttttctcaaattcttTaagatctttggctcgctttc	9	19	5	8	1	3	1	1	0	3	1	6	1	3	1	0	1	0	3	0	1	4	8			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:19996550T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Nonsense_Mutation_p.K409*			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TCAAATTCTTTAAGATCTTTG	0.383																																																	0													78	87	84					18																	19996550		2140	4276	6416	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996550T>A	Exception_encountered		B0YIZ3	Nonsense_Mutation	SNP	NULL	p.K409*	ENST00000525417.1	37	c.1225		18	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410734	0.83340	.	.	ENSG00000212710	ENST00000391403	.	.	.	1.09	0.0883	0.14454	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.5115	0.07709	0.0:0.7042:0.0:0.2958	.	.	.	.	X	409	.	.	K	-	1	0	CTAGE1	18250548	0.422000	0.25473	0.989000	0.46669	0.154000	0.21943	-0.564000	0.05936	0.024000	0.15214	-0.377000	0.06932	AAA	CTAGE1	-	NULL	ENSG00000212710		0.383	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	-	0	148	0	T	NM_022663, NM_172241		19996550	-1	tier1	-	no_errors	ENST00000391403	ensembl	human	known	74_37	nonsense	26.67	99	36	SNP	0.995	A	A	19996550	T	A	19996550	1	1	7	0	1	0	0	0	0	0	0	0	4001	1763	61	5		5	CTAGE1	18	19996550	5'Flank	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09		19996550	58080698	250	2114											
PSMA8	143471	genome.wustl.edu	37	chr18	23724574	23724574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggtagaaaaaaaatctGttgccaagcttcaagatgaa	16	10	10	5	0	2	3	1	1	1	2	2	3	2	3	1	2	2	3	1	2	8	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:23724574G>T	ENST00000308268.6	+	2	243	c.154G>T	c.(154-156)Gtt>Ttt	p.V52F	PSMA8_ENST00000415576.2_Missense_Mutation_p.V52F|PSMA8_ENST00000343848.6_Intron	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			AAAAAAATCTGTTGCCAAGCT	0.358																																																	0													135	134	134					18																	23724574		2203	4300	6503	SO:0001583	missense	0			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"Proteasome (prosome, macropain) subunits"	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.154G>T	18.37:g.23724574G>T	ENSP00000311121:p.Val52Phe		B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.V52F	ENST00000308268.6	37	c.154	CCDS32808.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.069166	0.93950	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000538664	T;T	0.23147	1.92;1.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	H	0.94462	3.54	0.80722	D	1	P;P;P	0.44776	0.656;0.843;0.811	B;P;P	0.51324	0.434;0.666;0.638	T	0.67086	-0.5759	10	0.72032	D	0.01	-21.8408	16.7371	0.85449	0.0:0.0:1.0:0.0	.	26;52;52	F5GY34;Q8TAA3;Q8TAA3-5	.;PSA7L_HUMAN;.	F	52;52;26	ENSP00000311121:V52F;ENSP00000409284:V52F	ENSP00000311121:V52F	V	+	1	0	PSMA8	21978572	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.857000	0.92250	2.826000	0.97356	0.655000	0.94253	GTT	PSMA8	-	pfam_Proteasome_sua/b	ENSG00000154611		0.358	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMA8	HGNC	protein_coding	OTTHUMT00000446255.1	-	0	55	0	G	NM_144662		23724574	1	tier1	-	no_errors	ENST00000308268	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	23724574	G	T	23724574	3	4	7	1	0	0	0	0	1	0	0	0	12715	1377	48	3	160	3	PSMA8	18	23724574	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	3728024	23724574	54352674	251	2115											
ASXL3	80816	genome.wustl.edu	37	chr18	31319382	31319382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaattccactgatgaaaacTttcatgcatctttgatgtca	13	14	6	8	0	3	3	2	3	1	0	4	4	4	3	1	0	2	1	1	0	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:31319382T>C	ENST00000269197.5	+	11	2014	c.2014T>C	c.(2014-2016)Ttt>Ctt	p.F672L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	672	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGATGAAAACTTTCATGCATC	0.373																																																	0													86	81	83					18																	31319382		1874	4106	5980	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2014T>C	18.37:g.31319382T>C	ENSP00000269197:p.Phe672Leu		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.F672L	ENST00000269197.5	37	c.2014	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	T	1.282	-0.610062	0.03690	.	.	ENSG00000141431	ENST00000269197	T	0.09538	2.97	5.8	4.93	0.64822	.	0.657365	0.13168	N	0.408509	T	0.02418	0.0074	N	0.00289	-1.7	0.22317	N	0.999206	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	10	0.02654	T	1	.	11.5687	0.50822	0.0:0.8458:0.0:0.1542	.	672	Q9C0F0	ASXL3_HUMAN	L	672	ENSP00000269197:F672L	ENSP00000269197:F672L	F	+	1	0	ASXL3	29573380	0.634000	0.27190	0.999000	0.59377	0.911000	0.54048	1.095000	0.30964	1.471000	0.48121	-0.386000	0.06593	TTT	ASXL3	-	NULL	ENSG00000141431		0.373	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	54	0	T			31319382	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	82.69	9	43	SNP	0.997	C	C	31319382	T	C	31319382	3	2	7	1	0	0	0	0	1	0	0	0	1069	1609	56	4	2056	4	ASXL3	18	31319382	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	7594808	31319382	46757866	252	2116											
CELF4	56853	genome.wustl.edu	37	chr18	35145420	35145420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttctcatccaggttgcggGggatctgcccaatgaacagc	8	9	11	13	1	2	1	1	1	2	0	4	2	3	2	3	3	4	1	3	3	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:35145420G>A	ENST00000591282.1	-	1	184	c.185C>T	c.(184-186)cCc>cTc	p.P62L	CELF4_ENST00000591287.1_Missense_Mutation_p.P62L|CELF4_ENST00000588597.1_Missense_Mutation_p.P62L|CELF4_ENST00000603232.1_Missense_Mutation_p.P62L|CELF4_ENST00000334919.5_Missense_Mutation_p.P62L|CELF4_ENST00000420428.2_Missense_Mutation_p.P62L|CELF4_ENST00000412753.1_Missense_Mutation_p.P62L|CELF4_ENST00000361795.5_Missense_Mutation_p.P62L|CELF4_ENST00000601019.1_Missense_Mutation_p.P62L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	62	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CAGGTTGCGGGGGATCTGCCC	0.552																																																	0													123	110	114					18																	35145420		2203	4300	6503	SO:0001583	missense	0			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	14015	protein-coding gene	gene with protein product		612679	"Bruno (Drosophila) -like 4, RNA binding protein", "bruno-like 4, RNA binding protein (Drosophila)"	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.185C>T	18.37:g.35145420G>A	ENSP00000464794:p.Pro62Leu		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P62L	ENST00000591282.1	37	c.185	CCDS32818.1	18	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278801	0.80692	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.73	4.73	0.59995	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.128961	0.52532	D	0.000072	T	0.75398	0.3844	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81671	-0.0827	10	0.87932	D	0	-6.7863	18.6143	0.91296	0.0:0.0:1.0:0.0	.	62;62;62;62;62	Q9BZC1-3;B4DHA8;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;CELF4_HUMAN	L	62	ENSP00000355089:P62L;ENSP00000406823:P62L;ENSP00000410584:P62L;ENSP00000335631:P62L	ENSP00000335631:P62L	P	-	2	0	CELF4	33399418	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.792000	0.99085	2.548000	0.85928	0.650000	0.86243	CCC	CELF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000101489		0.552	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	-	0	65	0	G	NM_020180		35145420	-1	tier1	-	no_errors	ENST00000420428	ensembl	human	known	74_37	missense	9.09	70	7	SNP	1.000	A	A	35145420	G	A	35145420	3	1	7	1	0	0	0	0	1	0	0	0	3225	1232	43	3	1323	3	CELF4	18	35145420	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	3826038	35145420	42931828	253	2117											
SETBP1	26040	genome.wustl.edu	37	chr18	42281628	42281628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagggaagtctgaagctaaAgattcagaccacaaagcggg	16	5	13	7	1	2	4	1	1	1	3	2	5	2	5	1	2	2	1	1	2	5	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr18:42281628A>G	ENST00000282030.5	+	2	613	c.317A>G	c.(316-318)aAg>aGg	p.K106R	SETBP1_ENST00000426838.4_Missense_Mutation_p.K106R	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	106						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTGAAGCTAAAGATTCAGACC	0.473									Schinzel-Giedion syndrome																																								0													92	94	93					18																	42281628		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.317A>G	18.37:g.42281628A>G	ENSP00000282030:p.Lys106Arg		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.K106R	ENST00000282030.5	37	c.317	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609998	0.87258	.	.	ENSG00000152217	ENST00000426838;ENST00000282030;ENST00000552979	T	0.76578	-1.03	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	L	0.46157	1.445	0.43164	D	0.994957	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	D	0.86593	0.1861	10	0.87932	D	0	.	15.9206	0.79562	1.0:0.0:0.0:0.0	.	106;106	Q9Y6X0;Q9Y6X0-2	SETBP_HUMAN;.	R	106	ENSP00000282030:K106R	ENSP00000282030:K106R	K	+	2	0	SETBP1	40535626	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.248000	0.95456	2.148000	0.66965	0.482000	0.46254	AAG	SETBP1	-	NULL	ENSG00000152217		0.473	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	52	0	A	NM_001130110		42281628	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	G	G	42281628	A	G	42281628	3	3	7	1	0	0	0	0	1	0	0	0	14174	72	3	4	319	4	SETBP1	18	42281628	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	7136208	42281628	35795620	254	2118											
FSTL3	10272	genome.wustl.edu	37	chr19	677855	677855	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgctccagactgatgTcacccgggccgagtgctgtg	5	9	14	13	2	1	2	1	1	0	1	2	3	2	2	4	2	2	2	4	2	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:677855T>A	ENST00000166139.4	+	2	199	c.167T>A	c.(166-168)gTc>gAc	p.V56D		NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	56	TB.				adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACTGATGTCACCCGGGCC	0.662			T	CCND1	B-CLL																																			Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													72	64	67					19																	677855		2203	4300	6503	SO:0001583	missense	0			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"follistatin-related protein"	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.167T>A	19.37:g.677855T>A	ENSP00000166139:p.Val56Asp		A8K7E3	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom	p.V56D	ENST00000166139.4	37	c.167	CCDS12040.1	19	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330871	0.60853	.	.	ENSG00000070404	ENST00000166139	D	0.89415	-2.51	4.31	4.31	0.51392	Matrix fibril-associated (1);TGF-beta binding (1);	0.075206	0.53938	D	0.000057	D	0.91925	0.7443	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	P	0.59056	0.851	D	0.90447	0.4436	10	0.27785	T	0.31	-16.0725	12.658	0.56797	0.0:0.0:0.0:1.0	.	56	O95633	FSTL3_HUMAN	D	56	ENSP00000166139:V56D	ENSP00000166139:V56D	V	+	2	0	FSTL3	628855	1.000000	0.71417	0.020000	0.16555	0.045000	0.14185	7.368000	0.79567	1.572000	0.49736	0.379000	0.24179	GTC	FSTL3	-	superfamily_TB_dom	ENSG00000070404		0.662	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL3	HGNC	protein_coding	OTTHUMT00000452479.1	-	0	63	0	T	NM_005860		677855	1	tier1	-	no_errors	ENST00000166139	ensembl	human	known	74_37	missense	73.13	18	49	SNP	1.000	A	A	677855	T	A	677855	3	1	7	1	0	0	0	0	1	0	0	0	6102	1667	58	5	173	5	FSTL3	19	677855	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09		677855	58451128	255	2119											
THOP1	7064	genome.wustl.edu	37	chr19	2807532	2807532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgcgagcgccggggcctgCccttcgacggccgcatccgt	4	6	15	16	7	0	0	0	0	0	0	2	2	1	0	5	3	3	1	5	3	0	1	rs146411808	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:2807532C>A	ENST00000307741.6	+	8	1182	c.979C>A	c.(979-981)Ccc>Acc	p.P327T	THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.P206T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	327					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGGCCTGCCCTTCGACGG	0.652																																																	0													40	43	42					19																	2807532		2198	4299	6497	SO:0001583	missense	0				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.979C>A	19.37:g.2807532C>A	ENSP00000304467:p.Pro327Thr		B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.P327T	ENST00000307741.6	37	c.979	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	C	2.711	-0.268806	0.05716	.	.	ENSG00000172009	ENST00000307741	T	0.07800	3.16	5.18	-10.4	0.00318	Neurolysin/Thimet oligopeptidase, domain 2 (1);	1.509970	0.03630	N	0.237692	T	0.05731	0.0150	N	0.10972	0.075	0.33706	D	0.615143	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31724	-0.9933	10	0.49607	T	0.09	-15.2927	19.6846	0.95976	0.0683:0.2435:0.6882:0.0	.	206;327	B4DU96;P52888	.;THOP1_HUMAN	T	327	ENSP00000304467:P327T	ENSP00000304467:P327T	P	+	1	0	THOP1	2758532	0.025000	0.19082	0.001000	0.08648	0.001000	0.01503	0.109000	0.15417	-1.950000	0.01030	-2.866000	0.00100	CCC	THOP1	-	pfam_Pept_M3A_M3B	ENSG00000172009		0.652	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	-	0	86	0	C			2807532	1	tier1	-	no_errors	ENST00000307741	ensembl	human	known	74_37	missense	9.47	86	9	SNP	0.002	A	A	2807532	C	A	2807532	3	1	7	1	0	0	0	0	1	0	0	0	15918	739	26	3	1009	3	THOP1	19	2807532	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	2129677	2807532	56321451	256	2120											
LONP1	9361	genome.wustl.edu	37	chr19	5696723	5696723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctccgtcttggtcttcttCaaacactggatgatcttccc	6	16	6	13	1	6	1	1	1	5	0	8	2	7	2	2	2	1	0	2	2	1	5			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:5696723C>G	ENST00000360614.3	-	11	1888	c.1731G>C	c.(1729-1731)ttG>ttC	p.L577F	LONP1_ENST00000585374.1_Missense_Mutation_p.L463F|LONP1_ENST00000590729.1_Missense_Mutation_p.L447F|LONP1_ENST00000593119.1_Missense_Mutation_p.L513F|LONP1_ENST00000540670.2_Missense_Mutation_p.L381F	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGTCTTCTTCAAACACTGGA	0.627																																																	0													89	73	78					19																	5696723		2203	4300	6503	SO:0001583	missense	0			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"ATPases / AAA-type", "Serine peptidases / Serine peptidases"	9479	protein-coding gene	gene with protein product		605490	"protease, serine, 15"	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1731G>C	19.37:g.5696723C>G	ENSP00000353826:p.Leu577Phe			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.L577F	ENST00000360614.3	37	c.1731	CCDS12148.1	19	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526343	0.64860	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	D;D	0.91686	-2.89;-2.89	4.85	4.85	0.62838	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.165528	0.40818	N	0.001001	D	0.92061	0.7484	M	0.65975	2.015	0.58432	D	0.999993	B;B;B	0.34399	0.452;0.452;0.452	B;B;B	0.43990	0.438;0.424;0.438	D	0.91691	0.5366	10	0.62326	D	0.03	-12.3143	9.2064	0.37291	0.0:0.9003:0.0:0.0997	.	577;513;577	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	F	577;541;381	ENSP00000353826:L577F;ENSP00000441523:L381F	ENSP00000351177:L541F	L	-	3	2	LONP1	5647723	0.982000	0.34865	1.000000	0.80357	0.383000	0.30230	0.202000	0.17295	2.257000	0.74773	0.485000	0.47835	TTG	LONP1	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	ENSG00000196365		0.627	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000451662.1		0	77	0	C	NM_004793		5696723	-1			no_errors	ENST00000360614	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	G	G	5696723	C	G	5696723	3	3	7	1	0	0	0	0	1	0	0	0	8927	825	29	5	1180	5	LONP1	19	5696723	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	2889191	5696723	53432260	257	2121											
PCP2	126006	genome.wustl.edu	37	chr19	7697660	7697660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcgctgtccctccatccgGtcgccctgcacgtggctcag	4	8	11	18	4	1	0	1	0	0	0	5	0	4	0	4	2	2	3	4	2	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:7697660G>T	ENST00000311069.5	-	2	398	c.108C>A	c.(106-108)gaC>gaA	p.D36E	CTD-3214H19.4_ENST00000595866.1_Intron|CTD-3214H19.6_ENST00000601797.1_RNA|PCP2_ENST00000598935.1_Missense_Mutation_p.D20E	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	36	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				rhodopsin mediated signaling pathway (GO:0016056)	neuronal cell body (GO:0043025)	GTPase regulator activity (GO:0030695)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|urinary_tract(1)	2						CCTCCATCCGGTCGCCCTGCA	0.672																																																	0													36	29	31					19																	7697660		2197	4294	6491	SO:0001583	missense	0			BC025387	CCDS32893.1, CCDS62521.1	19p13.3	2008-02-05				ENSG00000174788			30209	protein-coding gene	gene with protein product						12477932	Standard	NM_174895		Approved	MGC41903, GPSM4	uc031rjd.1	Q8IVA1		ENST00000311069.5:c.108C>A	19.37:g.7697660G>T	ENSP00000310585:p.Asp36Glu		M0R2R7|Q3KRG7	Missense_Mutation	SNP	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	p.D36E	ENST00000311069.5	37	c.108	CCDS32893.1	19	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142518	0.37825	.	.	ENSG00000174788	ENST00000311069	.	.	.	5.03	1.32	0.21799	GoLoco motif (3);	0.377447	0.19807	N	0.105636	T	0.20780	0.0500	N	0.25647	0.755	0.27220	N	0.959681	B	0.33494	0.414	B	0.34038	0.174	T	0.12426	-1.0548	9	0.59425	D	0.04	-7.1103	3.247	0.06801	0.3289:0.0:0.4812:0.1899	.	36	Q8IVA1	PCP2_HUMAN	E	36	.	ENSP00000310585:D36E	D	-	3	2	PCP2	7603660	0.456000	0.25744	0.786000	0.31890	0.601000	0.36947	0.461000	0.21940	0.538000	0.28769	0.561000	0.74099	GAC	PCP2	-	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	ENSG00000174788		0.672	PCP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCP2	HGNC	protein_coding	OTTHUMT00000461026.2	-	0	108	0	G	XM_058956		7697660	-1	tier1	-	no_errors	ENST00000311069	ensembl	human	known	74_37	missense	19.17	97	23	SNP	0.342	T	T	7697660	G	T	7697660	3	4	7	1	0	0	0	0	1	0	0	0	11636	1252	44	3	314	3	PCP2	19	7697660	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	2000937	7697660	51431323	258	2122											
MYO1F	4542	genome.wustl.edu	37	chr19	8587572	8587572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgtgctctgagggcGgacgtgcccggggtcgtctg	2	11	18	10	4	2	1	0	1	2	0	3	2	2	2	1	4	2	2	1	4	0	1	rs368617557		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:8587572G>A	ENST00000338257.8	-	26	3263	c.2996C>T	c.(2995-2997)cCg>cTg	p.P999L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	999					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTCTGAGGGCGGACGTGCCCG	0.697													G|||	1	0.000199681	0	0	5008	,	,		12827	0		0.001	False		,,,				2504	0																0								G	LEU/PRO	0,3866		0,0,1933	25	27	26		2996	2.2	0.8	19		26	2,8270		0,2,4134	no	missense	MYO1F	NM_012335.3	98	0,2,6067	AA,AG,GG		0.0242,0.0,0.0165	benign	999/1099	8587572	2,12136	1933	4136	6069	SO:0001583	missense	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2996C>T	19.37:g.8587572G>A	ENSP00000344871:p.Pro999Leu		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.P999L	ENST00000338257.8	37	c.2996	CCDS42494.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.038|4.038	0.004553|0.004553	0.07866|0.07866	0.0|0.0	2.42E-4|2.42E-4	ENSG00000142347|ENSG00000142347	ENST00000338257|ENST00000305795	D|.	0.87729|.	-2.29|.	5.48|5.48	2.15|2.15	0.27550|0.27550	.|.	.|0.301734	.|0.20824	.|N	.|0.085009	T|T	0.44498|0.44498	0.1296|0.1296	N|N	0.22421|0.22421	0.69|0.69	0.40511|0.40511	D|D	0.980738|0.980738	B|.	0.10296|.	0.003|.	B|.	0.09377|.	0.004|.	T|T	0.37079|0.37079	-0.9721|-0.9721	9|7	0.34782|0.56958	T|D	0.22|0.05	.|.	9.9194|9.9194	0.41455|0.41455	0.1361:0.0:0.7476:0.1163|0.1361:0.0:0.7476:0.1163	.|.	999|.	O00160|.	MYO1F_HUMAN|.	L|C	999|1043	ENSP00000344871:P999L|.	ENSP00000344871:P999L|ENSP00000304899:R1043C	P|R	-|-	2|1	0|0	MYO1F|MYO1F	8493572|8493572	0.926000|0.926000	0.31397|0.31397	0.830000|0.830000	0.32933|0.32933	0.008000|0.008000	0.06430|0.06430	1.486000|1.486000	0.35530|0.35530	0.034000|0.034000	0.15491|0.15491	-2.824000|-2.824000	0.00108|0.00108	CCG|CGC	MYO1F	-	NULL	ENSG00000142347		0.697	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	-	0	84	0	G			8587572	-1	tier1	-	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	79.31	24	92	SNP	0.986	A	A	8587572	G	A	8587572	3	1	7	1	0	0	0	0	1	0	0	0	10111	1116	39	1	312	1	MYO1F	19	8587572	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	889912	8587572	50541411	259	2123											
MUC16	94025	genome.wustl.edu	37	chr19	9085978	9085978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttatgcctgtagaaatgActtcttccactggaatggat	11	13	10	7	0	1	2	0	1	1	1	2	4	2	4	2	3	1	2	2	3	4	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9085978A>C	ENST00000397910.4	-	1	6040	c.5837T>G	c.(5836-5838)gTc>gGc	p.V1946G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1946	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTAGAAATGACTTCTTCCAC	0.488																																																	0													194	191	192					19																	9085978		2070	4202	6272	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5837T>G	19.37:g.9085978A>C	ENSP00000381008:p.Val1946Gly		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.V1946G	ENST00000397910.4	37	c.5837	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	8.042	0.764011	0.15914	.	.	ENSG00000181143	ENST00000397910	T	0.02837	4.14	0.235	0.235	0.15431	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	.	.	.	P	0.51449	0.945	P	0.59056	0.851	T	0.45527	-0.9255	7	0.87932	D	0	.	.	.	.	.	1946	B5ME49	.	G	1946	ENSP00000381008:V1946G	ENSP00000381008:V1946G	V	-	2	0	MUC16	8946978	0.008000	0.16893	0.719000	0.30619	0.722000	0.41435	0.125000	0.15749	0.263000	0.21812	0.260000	0.18958	GTC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	56	0	A	NM_024690		9085978	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	75.76	16	50	SNP	0.794	C	C	9085978	A	C	9085978	3	2	7	1	0	0	0	0	1	0	0	0	10011	275	10	4	38022	4	MUC16	19	9085978	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	498406	9085978	50043005	260	2124											
MUC16	94025	genome.wustl.edu	37	chr19	9086331	9086331	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgagagaaatccatggTgtcacctccattgatggagt	12	10	12	7	0	1	4	1	2	0	2	3	6	3	5	3	2	0	0	3	2	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9086331T>A	ENST00000397910.4	-	1	5687	c.5484A>T	c.(5482-5484)acA>acT	p.T1828T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1828	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAATCCATGGTGTCACCTCCA	0.483																																																	0													159	154	156					19																	9086331		1964	4155	6119	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5484A>T	19.37:g.9086331T>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T1828	ENST00000397910.4	37	c.5484	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	51	0	T	NM_024690		9086331	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.003	A	A	9086331	T	A	9086331	2	1	7	1	0	0	0	0	0	0	0	1	10011	1683	59	5		5	MUC16	19	9086331	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	353	9086331	50042652	261	2125											
ZNF561	93134	genome.wustl.edu	37	chr19	9721259	9721259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatagggtttctttccacTgtgacttcgtatgtgtatag	7	17	10	7	1	1	2	0	2	1	0	3	2	2	2	1	1	0	3	1	1	4	7			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9721259T>C	ENST00000302851.3	-	6	1441	c.1078A>G	c.(1078-1080)Agt>Ggt	p.S360G	ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000424629.1_Missense_Mutation_p.S291G|ZNF561_ENST00000354661.4_Missense_Mutation_p.S224G	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TTCTTTCCACTGTGACTTCGT	0.423																																																	0													129	120	123					19																	9721259		2203	4300	6503	SO:0001583	missense	0			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1078A>G	19.37:g.9721259T>C	ENSP00000303915:p.Ser360Gly		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S360G	ENST00000302851.3	37	c.1078	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	T	12.65	2.001204	0.35320	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.19669	2.13;2.13;2.13	1.1	1.1	0.20463	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22399	0.0540	M	0.64260	1.97	0.23563	N	0.997408	B	0.26935	0.164	B	0.31686	0.134	T	0.31223	-0.9951	9	0.87932	D	0	.	6.3586	0.21414	0.0:0.0:0.0:1.0	.	360	Q8N587	ZN561_HUMAN	G	291;360;224	ENSP00000393074:S291G;ENSP00000303915:S360G;ENSP00000346687:S224G	ENSP00000303915:S360G	S	-	1	0	ZNF561	9582259	0.892000	0.30473	0.006000	0.13384	0.117000	0.20001	1.244000	0.32778	0.753000	0.32945	0.248000	0.18094	AGT	ZNF561	-	pfscan_Znf_C2H2	ENSG00000171469		0.423	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	-	0	83	0	T	NM_152289		9721259	-1	tier1	-	no_errors	ENST00000302851	ensembl	human	known	74_37	missense	82.56	15	71	SNP	0.999	C	C	9721259	T	C	9721259	3	2	7	1	0	0	0	0	1	0	0	0	18040	1580	55	4	386	4	ZNF561	19	9721259	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	634928	9721259	49407724	262	2126											
ZNF562	54811	genome.wustl.edu	37	chr19	9763995	9763995	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaatttgaatgtgaacaTtaaaggatgaggaatttcta	15	14	10	2	0	1	4	0	4	1	0	1	6	1	6	0	2	1	0	0	2	7	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:9763995T>G	ENST00000448622.1	-	6	1073	c.911A>C	c.(910-912)aAt>aCt	p.N304T	ZNF562_ENST00000293648.4_Missense_Mutation_p.N232T|ZNF562_ENST00000541032.1_Missense_Mutation_p.N267T|ZNF562_ENST00000453792.2_Missense_Mutation_p.N235T|ZNF562_ENST00000590155.1_Missense_Mutation_p.N303T|ZNF562_ENST00000453372.2_Missense_Mutation_p.N304T|ZNF562_ENST00000537617.1_Missense_Mutation_p.N188T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AATGTGAACATTAAAGGATGA	0.353																																																	0													93	91	92					19																	9763995		2203	4298	6501	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.911A>C	19.37:g.9763995T>G	ENSP00000411784:p.Asn304Thr		Q32MN2|Q9NXS5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N304T	ENST00000448622.1	37	c.911	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	T	0.125	-1.120086	0.01785	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24	1.72	0.685	0.18009	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10981	0.0268	N	0.02368	-0.58	0.09310	N	1	D;D;D;B;D	0.67145	0.989;0.991;0.995;0.241;0.996	D;D;P;B;D	0.76071	0.979;0.982;0.887;0.096;0.987	T	0.14420	-1.0473	9	0.02654	T	1	.	4.9417	0.13969	0.0:0.1788:0.0:0.8212	.	188;303;267;304;232	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	T	304;304;232;267;235;188	ENSP00000410734:N304T;ENSP00000411784:N304T;ENSP00000293648:N232T;ENSP00000442614:N267T;ENSP00000440451:N235T;ENSP00000445816:N188T	ENSP00000293648:N232T	N	-	2	0	ZNF562	9624995	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.490000	0.02304	0.156000	0.19299	0.254000	0.18369	AAT	ZNF562	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.353	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0	132	0	T	NM_017656		9763995	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	missense	25.00	105	35	SNP	0.005	G	G	9763995	T	G	9763995	3	3	7	1	0	0	0	0	1	0	0	0	18041	1493	52	4	373	4	ZNF562	19	9763995	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	42736	9763995	49364988	263	2127											
ZNF844	284391	genome.wustl.edu	37	chr19	12186947	12186947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctgggaaaaagccctgtGaatgtaaacaatgtgggaaa	16	8	11	6	0	1	1	0	1	1	0	1	3	1	3	1	2	2	1	1	2	7	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:12186947G>C	ENST00000439326.3	+	4	1187	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCCTGTGAATGTAAACA	0.378																																																	0													85	82	83					19																	12186947		692	1591	2283	SO:0001583	missense	0			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1012G>C	19.37:g.12186947G>C	ENSP00000392024:p.Glu338Gln		Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E338Q	ENST00000439326.3	37	c.1012	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957670	0.34565	.	.	ENSG00000223547	ENST00000439326;ENST00000541708;ENST00000535505	T	0.15603	2.41	2.5	1.42	0.22433	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15392	0.0371	L	0.33624	1.015	0.09310	N	1	P	0.47191	0.891	P	0.48770	0.589	T	0.14615	-1.0466	9	0.62326	D	0.03	.	2.4394	0.04490	0.2864:0.0:0.4766:0.237	.	338	Q08AG5	ZN844_HUMAN	Q	338;338;313	ENSP00000392024:E338Q	ENSP00000392024:E338Q	E	+	1	0	ZNF844	12047947	0.000000	0.05858	0.090000	0.20809	0.170000	0.22686	-3.809000	0.00361	0.359000	0.24239	0.205000	0.17691	GAA	ZNF844	-	smart_Znf_C2H2-like	ENSG00000223547		0.378	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	-	0	41	0	G			12186947	1	tier1	-	no_errors	ENST00000439326	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.010	C	C	12186947	G	C	12186947	3	2	7	1	0	0	0	0	1	0	0	0	18238	1291	45	5	1026	5	ZNF844	19	12186947	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	2422952	12186947	46942036	264	2128											
SLC7A10	56301	genome.wustl.edu	37	chr19	33703263	33703263	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccactgaaggcgaaggaGccctggaggaaggccagggc	11	2	17	11	1	0	1	0	1	0	0	0	5	0	4	3	6	2	0	3	6	3	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:33703263G>T	ENST00000253188.4	-	5	869	c.723C>A	c.(721-723)ggC>ggA	p.G241G		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	241					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGGCGAAGGAGCCCTGGAGGA	0.627																																																	0													42	37	39					19																	33703263		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"Solute carriers"	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.723C>A	19.37:g.33703263G>T			B2RE84	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.G241	ENST00000253188.4	37	c.723	CCDS12431.1	19																																																																																			SLC7A10	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000130876		0.627	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A10	HGNC	protein_coding	OTTHUMT00000450846.2		0	41	0	G	NM_019849		33703263	-1			no_errors	ENST00000253188	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.998	T	T	33703263	G	T	33703263	2	4	7	1	0	0	0	0	0	0	0	1	14738	958	34	3		3	SLC7A10	19	33703263	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	21516316	33703263	25425720	265	2129											
ZNF599	148103	genome.wustl.edu	37	chr19	35258288	35258288	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatgttccagtagataGatcagctctggtttgggaac	9	13	11	8	0	2	2	1	0	1	2	4	3	4	3	2	2	2	4	2	2	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:35258288G>T	ENST00000329285.8	-	3	547	c.174C>A	c.(172-174)atC>atA	p.I58I	ZNF599_ENST00000588760.1_Silent_p.I58I|ZNF599_ENST00000587354.2_Silent_p.I58I	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCAGTAGATAGATCAGCTCTG	0.502																																																	0													106	87	94					19																	35258288		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.174C>A	19.37:g.35258288G>T			Q569K0|Q5PRG1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I58	ENST00000329285.8	37	c.174	CCDS32991.1	19																																																																																			ZNF599	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000153896		0.502	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	-	0	39	0	G	XM_086046		35258288	-1	tier1	-	no_errors	ENST00000329285	ensembl	human	known	74_37	silent	36.17	30	17	SNP	0.120	T	T	35258288	G	T	35258288	2	4	7	1	0	0	0	0	0	0	0	1	18077	932	33	3		3	ZNF599	19	35258288	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	1555025	35258288	23870695	266	2130											
LSR	51599	genome.wustl.edu	37	chr19	35758274	35758274	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcccacgagtaatggTgggagaagccgggcctacat	10	7	14	10	2	1	1	0	0	1	1	2	3	1	1	3	4	2	1	3	4	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:35758274T>G	ENST00000361790.3	+	9	1710	c.1551T>G	c.(1549-1551)ggT>ggG	p.G517G	USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Silent_p.G361G|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000602122.1_Silent_p.G497G|LSR_ENST00000354900.3_Silent_p.G498G|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000360798.3_Silent_p.G449G|LSR_ENST00000347609.4_Silent_p.G459G|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	517					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGAGTAATGGTGGGAGAAGCC	0.726																																																	0													10	15	14					19																	35758274		2104	4140	6244	SO:0001819	synonymous_variant	0			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1551T>G	19.37:g.35758274T>G			A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.G517	ENST00000361790.3	37	c.1551	CCDS12450.1	19																																																																																			LSR	-	NULL	ENSG00000105699		0.726	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	HGNC	protein_coding	OTTHUMT00000465513.2		0	9	0	T	NM_015925		35758274	1			no_errors	ENST00000361790	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.945	G	G	35758274	T	G	35758274	2	3	7	1	0	0	0	0	0	0	0	1	9099	1683	59	4		4	LSR	19	35758274	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	499986	35758274	23370709	267	2131											
ZNF260	339324	genome.wustl.edu	37	chr19	37005915	37005915	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccttctttcctgtgtgacTtctaaggtgtagagtaagag	8	15	11	7	0	2	3	0	1	2	2	3	3	3	3	2	1	1	2	2	1	3	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:37005915T>G	ENST00000523638.1	-	3	1347	c.226A>C	c.(226-228)Agt>Cgt	p.S76R	ZNF260_ENST00000588993.1_Missense_Mutation_p.S76R|ZNF260_ENST00000592282.1_Missense_Mutation_p.S76R|ZNF260_ENST00000593142.1_Missense_Mutation_p.S76R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	76					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CCTGTGTGACTTCTAAGGTGT	0.393																																																	0													135	125	129					19																	37005915		2203	4300	6503	SO:0001583	missense	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.226A>C	19.37:g.37005915T>G	ENSP00000429803:p.Ser76Arg		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S76R	ENST00000523638.1	37	c.226	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	T	8.318	0.823636	0.16678	.	.	ENSG00000254004	ENST00000523638	T	0.00976	5.48	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01124	0.0037	L	0.33485	1.01	0.31253	N	0.693768	P	0.34462	0.454	B	0.34722	0.188	T	0.30534	-0.9975	9	0.87932	D	0	.	8.8596	0.35249	0.1679:0.0:0.0:0.8321	.	76	Q3ZCT1	ZN260_HUMAN	R	76	ENSP00000429803:S76R	ENSP00000429803:S76R	S	-	1	0	ZNF260	41697755	0.003000	0.15002	0.976000	0.42696	0.004000	0.04260	1.094000	0.30951	1.941000	0.56285	0.454000	0.30748	AGT	ZNF260	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000254004		0.393	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2		0	40	0	T	NM_001012756		37005915	-1			no_errors	ENST00000523638	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.989	G	G	37005915	T	G	37005915	3	3	7	1	0	0	0	0	1	0	0	0	17850	1609	56	4	1016	4	ZNF260	19	37005915	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	1247641	37005915	22123068	268	2132											
ZNF585B	92285	genome.wustl.edu	37	chr19	37676375	37676375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcactgcactcataaggTttctctccagtatgaattct	10	14	6	11	0	4	1	2	1	2	0	6	1	5	1	1	1	1	3	1	1	3	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:37676375T>C	ENST00000532828.2	-	5	2315	c.2064A>G	c.(2062-2064)aaA>aaG	p.K688K	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Silent_p.K276K|ZNF585B_ENST00000531805.1_Silent_p.K633K|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTCATAAGGTTTCTCTCCAG	0.443																																					Melanoma(93;882 1454 18863 28917 48427)												0													38	38	38					19																	37676375		2202	4280	6482	SO:0001819	synonymous_variant	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2064A>G	19.37:g.37676375T>C			Q8IZD3|Q96JW6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K688	ENST00000532828.2	37	c.2064	CCDS12500.1	19																																																																																			ZNF585B	-	pfscan_Znf_C2H2	ENSG00000245680		0.443	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0	63	0	T	NM_152279		37676375	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	silent	82.76	10	48	SNP	0.999	C	C	37676375	T	C	37676375	2	2	7	1	0	0	0	0	0	0	0	1	18066	1722	60	4		4	ZNF585B	19	37676375	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	670460	37676375	21452608	269	2133											
STRN4	29888	genome.wustl.edu	37	chr19	47231922	47231922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccgccgagggtctggaGccccttccccatcctctcct	4	9	9	19	2	2	0	0	0	2	0	5	2	4	1	8	2	2	1	8	2	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:47231922G>A	ENST00000263280.6	-	7	1041	c.992C>T	c.(991-993)gCt>gTt	p.A331V	CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'Flank|STRN4_ENST00000391910.3_Missense_Mutation_p.A331V|STRN4_ENST00000539396.1_Missense_Mutation_p.A212V	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	331						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGGGTCTGGAGCCCCTTCCCC	0.612																																																	0													76	72	73					19																	47231922		2203	4300	6503	SO:0001583	missense	0			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.992C>T	19.37:g.47231922G>A	ENSP00000263280:p.Ala331Val		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A331V	ENST00000263280.6	37	c.992	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080488	0.76528	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396;ENST00000435164	T;T;T	0.68765	-0.34;-0.35;-0.19	4.64	4.64	0.57946	.	0.356700	0.20788	N	0.085676	T	0.75155	0.3811	L	0.54323	1.7	0.42130	D	0.991468	P;B	0.41710	0.76;0.048	P;B	0.54706	0.759;0.038	T	0.75758	-0.3205	10	0.48119	T	0.1	-2.0236	16.4195	0.83753	0.0:0.0:1.0:0.0	.	331;331	F8VYA6;Q9NRL3	.;STRN4_HUMAN	V	331;331;212;212	ENSP00000375777:A331V;ENSP00000263280:A331V;ENSP00000440901:A212V	ENSP00000263280:A331V	A	-	2	0	STRN4	51923762	1.000000	0.71417	0.989000	0.46669	0.978000	0.69477	6.407000	0.73280	2.418000	0.82041	0.561000	0.74099	GCT	STRN4	-	NULL	ENSG00000090372		0.612	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	HGNC	protein_coding	OTTHUMT00000466607.2	-	0	128	0	G			47231922	-1	tier1	-	no_errors	ENST00000391910	ensembl	human	known	74_37	missense	20.16	103	26	SNP	1.000	A	A	47231922	G	A	47231922	3	1	7	1	0	0	0	0	1	0	0	0	15378	971	34	3	1334	3	STRN4	19	47231922	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	9555547	47231922	11897061	270	2134											
RUVBL2	10856	genome.wustl.edu	37	chr19	49510282	49510282	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccttcccaggcatggcGcaggccctgggccctgacac	5	6	12	18	1	0	1	0	1	0	0	2	1	2	1	5	4	0	2	5	4	0	1	rs367568788		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:49510282G>T	ENST00000595090.1	+	5	737	c.273G>T	c.(271-273)gcG>gcT	p.A91A	RUVBL2_ENST00000601968.1_Silent_p.A46A|RUVBL2_ENST00000413176.2_Silent_p.A46A	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	91					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CAGGCATGGCGCAGGCCCTGG	0.637																																																	0													28	33	31					19																	49510282		2059	4179	6238	SO:0001819	synonymous_variant	0			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.273G>T	19.37:g.49510282G>T			B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Silent	SNP	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.A91	ENST00000595090.1	37	c.273	CCDS42588.1	19																																																																																			RUVBL2	-	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000183207		0.637	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1		0	34	0	G			49510282	1			no_errors	ENST00000595090	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.687	T	T	49510282	G	T	49510282	2	4	7	1	0	0	0	0	0	0	0	1	13798	1074	38	2		2	RUVBL2	19	49510282	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	2278360	49510282	9618701	271	2135											
PRR12	57479	genome.wustl.edu	37	chr19	50098808	50098808	+	Frame_Shift_Del	DEL	C	C	-																															ctgccgggggtgccaccaggCcccccccaccccgttcgacc																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:50098808delC	ENST00000418929.2	+	4	1228	c.1216delC	c.(1216-1218)cccfs	p.P409fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGCCACCAGGCCCCCCCCACC	0.687																																																	0										49,3127		7,35,1546	7	8	8			-3.1	0.1	19		8	92,7166		6,80,3543	no	frameshift	PRR12	NM_020719.1		13,115,5089	A1A1,A1R,RR		1.2676,1.5428,1.3514			50098808	141,10293	1723	3929	5652	SO:0001589	frameshift_variant	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1216delC	19.37:g.50098808delC	ENSP00000394510:p.Pro409fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	NULL	p.P408fs	ENST00000418929.2	37	c.1216	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1		0	24	0	C	NM_020719		50098808	1	tier1		no_errors	ENST00000418929	ensembl	human	novel	74_37	frame_shift_del	6.90	27	2	DEL	0.210	-	-	50098808	C	-	50098808	7	5	7	1	0	1	0	1	0	0	0	0	12626	739	26	0	1230	0	PRR12	19	50098808	Frame_Shift_Del	DEL	C	TCGA-2H-A9GL-01A-12D-A37C-09	588526	50098808	9030175	272	2136											
SIGLEC9	27180	genome.wustl.edu	37	chr19	51633330	51633330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcggagatcaagatccaCagatgagaaactgcagagac	16	6	10	9	1	1	5	1	1	0	5	3	8	2	5	1	1	3	1	1	1	3	1	rs143905990	byFrequency	TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:51633330C>T	ENST00000250360.3	+	7	1453	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	462					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCAAGATCCACAGATGAGAAA	0.542																																																	0													61	58	59					19																	51633330		2203	4300	6503	SO:0001819	synonymous_variant	0			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1386C>T	19.37:g.51633330C>T			Q6GTU4|Q9BYI9	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.H462	ENST00000250360.3	37	c.1386	CCDS12825.1	19																																																																																			SIGLEC9	-	NULL	ENSG00000129450		0.542	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	-	0	44	0	C	NM_014441		51633330	1	tier1	-	no_errors	ENST00000250360	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.009	T	T	51633330	C	T	51633330	2	4	7	1	0	0	0	0	0	0	0	1	14360	477	17	3		3	SIGLEC9	19	51633330	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	1534522	51633330	7495653	273	2137											
ZNF331	55422	genome.wustl.edu	37	chr19	54080368	54080368	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaattcatactggggagaAgccctacgaatgtaaagact	17	8	9	7	1	1	2	1	0	0	2	1	4	1	2	1	2	3	1	1	2	8	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:54080368A>C	ENST00000253144.9	+	7	1887	c.554A>C	c.(553-555)aAg>aCg	p.K185T	ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000511593.2_Missense_Mutation_p.K185T|ZNF331_ENST00000513999.1_Missense_Mutation_p.K185T|ZNF331_ENST00000449416.1_Missense_Mutation_p.K185T|ZNF331_ENST00000411977.2_Missense_Mutation_p.K185T|ZNF331_ENST00000511154.1_Missense_Mutation_p.K185T|ZNF331_ENST00000512387.1_Missense_Mutation_p.K185T	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACTGGGGAGAAGCCCTACGAA	0.413			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													73	80	78					19																	54080368		2203	4300	6503	SO:0001583	missense	0			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"Zinc fingers, C2H2-type", "-"	15489	protein-coding gene	gene with protein product	"rearranged in thyroid adenomas"	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.554A>C	19.37:g.54080368A>C	ENSP00000253144:p.Lys185Thr		Q96GJ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K185T	ENST00000253144.9	37	c.554	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825643	0.71143	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	3.68	3.68	0.42216	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36482	N	0.002562	T	0.49966	0.1588	M	0.80982	2.52	0.33641	D	0.607269	D	0.76494	0.999	D	0.83275	0.996	T	0.66480	-0.5913	10	0.87932	D	0	.	10.5691	0.45190	1.0:0.0:0.0:0.0	.	185	Q9NQX6	ZN331_HUMAN	T	185	ENSP00000253144:K185T;ENSP00000427439:K185T;ENSP00000393817:K185T;ENSP00000393336:K185T;ENSP00000421014:K185T;ENSP00000423156:K185T;ENSP00000421728:K185T	ENSP00000253144:K185T	K	+	2	0	ZNF331	58772180	0.228000	0.23718	0.906000	0.35671	0.847000	0.48162	0.799000	0.27028	1.665000	0.50811	0.460000	0.39030	AAG	ZNF331	-	pfscan_Znf_C2H2	ENSG00000130844		0.413	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	-	0	43	0	A	NM_018555		54080368	1	tier1	-	no_errors	ENST00000253144	ensembl	human	known	74_37	missense	86.54	7	45	SNP	1.000	C	C	54080368	A	C	54080368	3	2	7	1	0	0	0	0	1	0	0	0	17897	72	3	4	564	4	ZNF331	19	54080368	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	2447038	54080368	5048615	274	2138											
NLRP7	199713	genome.wustl.edu	37	chr19	55450465	55450465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcctgagactcatacagGcagcccaagacctccttcag	10	8	7	16	0	2	2	2	1	0	2	5	3	5	2	5	1	2	1	5	1	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:55450465G>A	ENST00000590030.1	-	3	1762	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	NLRP7_ENST00000588756.1_Silent_p.C574C|NLRP7_ENST00000328092.5_Silent_p.C574C|NLRP7_ENST00000340844.2_Silent_p.C574C|NLRP7_ENST00000446217.1_Silent_p.C602C|NLRP7_ENST00000448121.2_Silent_p.C574C|NLRP7_ENST00000592784.1_Silent_p.C574C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	574							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACTCATACAGGCAGCCCAAGA	0.493																																																	0													81	78	79					19																	55450465		2203	4300	6503	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1722C>T	19.37:g.55450465G>A			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C602	ENST00000590030.1	37	c.1806	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	-	0	46	0	G	NM_139176		55450465	-1	tier1	-	no_errors	ENST00000446217	ensembl	human	known	74_37	silent	16.07	47	9	SNP	0.000	A	A	55450465	G	A	55450465	2	1	7	1	0	0	0	0	0	0	0	1	10521	1195	42	3		3	NLRP7	19	55450465	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	1370097	55450465	3678518	275	2139											
BRSK1	84446	genome.wustl.edu	37	chr19	55817771	55817771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctccccgcgacgggacgGcagcggaggtggtggcatct	5	5	17	14	5	1	0	0	0	1	0	2	3	2	2	3	6	1	2	3	6	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr19:55817771G>A	ENST00000309383.1	+	17	2319	c.2042G>A	c.(2041-2043)gGc>gAc	p.G681D	BRSK1_ENST00000326848.7_Missense_Mutation_p.G376D|BRSK1_ENST00000590333.1_Missense_Mutation_p.G697D	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	681					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGACGGGACGGCAGCGGAGGT	0.637																																																	0													95	75	82					19																	55817771		2203	4300	6503	SO:0001583	missense	0			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.2042G>A	19.37:g.55817771G>A	ENSP00000310649:p.Gly681Asp		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.G697D	ENST00000309383.1	37	c.2090	CCDS12921.1	19	.	.	.	.	.	.	.	.	.	.	.	14.59	2.581176	0.46006	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.71579	-0.58;1.93	3.94	3.94	0.45596	.	0.306169	0.25256	N	0.032000	T	0.60038	0.2238	N	0.19112	0.55	0.46586	D	0.999119	P;P	0.50272	0.89;0.933	B;P	0.45506	0.29;0.483	T	0.65726	-0.6098	10	0.54805	T	0.06	.	13.9814	0.64306	0.0:0.0:1.0:0.0	.	681;697	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	D	681;376;376	ENSP00000310649:G681D;ENSP00000320853:G376D	ENSP00000310649:G681D	G	+	2	0	BRSK1	60509583	0.987000	0.35691	0.110000	0.21437	0.578000	0.36192	4.969000	0.63735	2.524000	0.85096	0.555000	0.69702	GGC	BRSK1	-	NULL	ENSG00000160469		0.637	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRSK1	HGNC	protein_coding	OTTHUMT00000452787.1		0	40	0	G	NM_032430		55817771	1			no_errors	ENST00000590333	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.943	A	A	55817771	G	A	55817771	3	1	7	1	0	0	0	0	1	0	0	0	1527	1203	42	3	2108	3	BRSK1	19	55817771	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	367306	55817771	3311212	276	2140											
PTPRA	5786	genome.wustl.edu	37	chr20	3005237	3005237	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaacaaaatcccagggacCagcaacaatggattagagga	18	5	9	9	0	0	1	0	0	0	1	1	4	1	4	2	3	4	1	2	3	7	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:3005237C>T	ENST00000216877.6	+	16	1957	c.1557C>T	c.(1555-1557)acC>acT	p.T519T	PTPRA_ENST00000380393.3_Silent_p.T528T|PTPRA_ENST00000358719.4_Silent_p.T384T|PTPRA_ENST00000425918.2_Silent_p.T539T|PTPRA_ENST00000318266.5_Silent_p.T519T|PTPRA_ENST00000399903.2_Silent_p.T528T|PTPRA_ENST00000356147.3_Silent_p.T519T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	528					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCCAGGGACCAGCAACAATG	0.458																																																	0													115	118	117					20																	3005237		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1557C>T	20.37:g.3005237C>T			A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Silent	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T539	ENST00000216877.6	37	c.1617	CCDS13039.1	20																																																																																			PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type	ENSG00000132670		0.458	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	-	0	50	0	C			3005237	1	tier1	-	no_errors	ENST00000425918	ensembl	human	known	74_37	silent	11.61	136	18	SNP	1.000	T	T	3005237	C	T	3005237	2	4	7	1	0	0	0	0	0	0	0	1	12840	581	21	3		3	PTPRA	20	3005237	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09		3005237	60020283	277	2141											
PLCB1	23236	genome.wustl.edu	37	chr20	8782721	8782724	+	Intron	DEL	TTCT	TTCT	-																															agggggaaggttcctcctcaTtcttgtcggaaacttgccat																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:8782721_8782724delTTCT	ENST00000338037.6	+	31	3450				PLCB1_ENST00000378637.2_Frame_Shift_Del_p.FL1148fs|PLCB1_ENST00000378641.3_Frame_Shift_Del_p.FL1148fs	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)						activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCCTCCTCATTCTTGTCGGAAAC	0.485																																																	0																																										SO:0001627	intron_variant	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3423+11813TTCT>-	20.37:g.8782721_8782724delTTCT			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Frame_Shift_Del	DEL	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F1148fs	ENST00000338037.6	37	c.3442_3445	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.485	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3		0	78	0	TTCT			8782724	1	tier1		no_errors	ENST00000378637	ensembl	human	known	74_37	frame_shift_del	10.90	188	23	DEL	1.000:1.000:1.000:1.000	-	-	8782724	TTCT	-	8782721	6	5	7	0	1	1	0	1	0	0	0	0	12066	1493	52	0		0	PLCB1	20	8782721	Intron	DEL	TTCT	TCGA-2H-A9GL-01A-12D-A37C-09	5777484	8782721	54242799	278	2142											
TMEM90B	79953	genome.wustl.edu	37	chr20	24565587	24565587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctccatgctctgctgCttctggcctctgggcatcgc	2	14	10	15	1	5	0	0	0	5	0	7	0	5	0	2	2	3	4	2	2	0	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:24565587C>T	ENST00000376862.3	+	3	1209	c.576C>T	c.(574-576)tgC>tgT	p.C192C	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	192					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGCTCTGCTGCTTCTGGCCTC	0.597																																																	0													146	130	135					20																	24565587		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.576C>T	20.37:g.24565587C>T			Q6IA30|Q9H514	Silent	SNP	pfam_CD225/Dispanin_fam	p.C192	ENST00000376862.3	37	c.576	CCDS13164.1	20																																																																																			SYNDIG1	-	pfam_CD225/Dispanin_fam	ENSG00000101463		0.597	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0	47	0	C	NM_024893		24565587	1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	silent	29.47	66	28	SNP	1.000	T	T	24565587	C	T	24565587	2	4	7	1	0	0	0	0	0	0	0	1	16266	805	28	3		3	TMEM90B	20	24565587	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	15782866	24565587	38459933	279	2143											
FOXS1	2307	genome.wustl.edu	37	chr20	30432968	30432968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacggcgtgccttggcGgggccccgggtgccctcagc	2	6	17	16	4	1	0	1	0	0	0	2	0	2	0	5	6	3	0	5	6	0	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:30432968G>A	ENST00000375978.3	-	1	452	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	126					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GTGCCTTGGCGGGGCCCCGGG	0.706																																																	0													12	14	14					20																	30432968		2194	4280	6474	SO:0001819	synonymous_variant	0			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.378C>T	20.37:g.30432968G>A			Q96D28	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P126	ENST00000375978.3	37	c.378	CCDS13192.1	20																																																																																			FOXS1	-	NULL	ENSG00000179772		0.706	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	HGNC	protein_coding	OTTHUMT00000078560.2	-	0	62	0	G	NM_004118		30432968	-1	tier1	-	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	15.48	71	13	SNP	0.011	A	A	30432968	G	A	30432968	2	1	7	1	0	0	0	0	0	0	0	1	6059	1103	39	1		1	FOXS1	20	30432968	Silent	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	5867381	30432968	32592552	280	2144											
TM9SF4	9777	genome.wustl.edu	37	chr20	30720898	30720898	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctggggtcgcgcctatcaActtccaccagaacgatcccg	8	7	10	16	4	1	1	1	0	0	1	4	2	3	1	5	2	2	0	5	2	3	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:30720898A>C	ENST00000398022.2	+	2	333	c.98A>C	c.(97-99)aAc>aCc	p.N33T	TM9SF4_ENST00000217315.5_Missense_Mutation_p.N16T	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	33						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCGCCTATCAACTTCCACCAG	0.522																																																	0													145	121	129					20																	30720898		2203	4300	6503	SO:0001583	missense	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.98A>C	20.37:g.30720898A>C	ENSP00000381104:p.Asn33Thr		B0QYT7|Q9NUA3	Missense_Mutation	SNP	pfam_EMP70	p.N33T	ENST00000398022.2	37	c.98	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	A	18.12	3.552102	0.65311	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.41400	1.6;1.0	5.2	5.2	0.72013	.	0.055403	0.85682	D	0.000000	T	0.31949	0.0813	N	0.21545	0.675	0.80722	D	1	B	0.23377	0.084	B	0.23275	0.045	T	0.08827	-1.0703	10	0.44086	T	0.13	-26.4195	15.2381	0.73447	1.0:0.0:0.0:0.0	.	33	Q92544	TM9S4_HUMAN	T	33;16	ENSP00000381104:N33T;ENSP00000217315:N16T	ENSP00000217315:N16T	N	+	2	0	TM9SF4	30184559	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.612000	0.90909	2.187000	0.69744	0.533000	0.62120	AAC	TM9SF4	-	NULL	ENSG00000101337		0.522	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	-	0	54	0	A	NM_014742		30720898	1	tier1	-	no_errors	ENST00000398022	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	C	C	30720898	A	C	30720898	3	2	7	1	0	0	0	0	1	0	0	0	16027	43	2	4	104	4	TM9SF4	20	30720898	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	287930	30720898	32304622	281	2145											
ITCH	83737	genome.wustl.edu	37	chr20	33068499	33068499	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactcaaggatttagaatcTattgatccagaattttacaa	15	13	7	6	0	2	3	1	1	1	2	3	5	3	5	1	2	1	0	1	2	7	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:33068499T>C	ENST00000262650.6	+	20	2173	c.2037T>C	c.(2035-2037)tcT>tcC	p.S679S	ITCH_ENST00000374864.4_Silent_p.S638S|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.S528S			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	679	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTTAGAATCTATTGATCCAG	0.328																																																	0													83	86	85					20																	33068499		2202	4299	6501	SO:0001819	synonymous_variant	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2037T>C	20.37:g.33068499T>C			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.S679	ENST00000262650.6	37	c.2037	CCDS58768.1	20																																																																																			ITCH	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000078747		0.328	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	-	0	46	0	T			33068499	1	tier1	-	no_errors	ENST00000262650	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	C	C	33068499	T	C	33068499	2	2	7	1	0	0	0	0	0	0	0	1	7895	1509	53	4		4	ITCH	20	33068499	Silent	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	2347601	33068499	29957021	282	2146											
NCOA6	23054	genome.wustl.edu	37	chr20	33329232	33329232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagctgctgatgtgttagCtgaagttgtgatgggattgg	9	13	15	4	0	0	3	0	3	0	0	0	4	0	4	0	2	3	5	0	2	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:33329232C>T	ENST00000374796.2	-	12	7398	c.4828G>A	c.(4828-4830)Gct>Act	p.A1610T	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1610T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1610					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GATGTGTTAGCTGAAGTTGTG	0.458																																																	0													120	108	112					20																	33329232		2203	4300	6503	SO:0001583	missense	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.4828G>A	20.37:g.33329232C>T	ENSP00000363929:p.Ala1610Thr		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.A1610T	ENST00000374796.2	37	c.4828	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	9.181	1.023616	0.19433	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23950	1.88;1.88	5.25	4.29	0.51040	.	0.159715	0.44097	D	0.000483	T	0.14227	0.0344	N	0.12182	0.205	0.30771	N	0.743032	B	0.26081	0.141	B	0.24974	0.057	T	0.11348	-1.0591	10	0.17832	T	0.49	-5.5528	12.9277	0.58270	0.4262:0.5738:0.0:0.0	.	1610	Q14686	NCOA6_HUMAN	T	1610	ENSP00000363929:A1610T;ENSP00000351894:A1610T	ENSP00000351894:A1610T	A	-	1	0	NCOA6	32792893	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.292000	0.33342	1.523000	0.49018	0.591000	0.81541	GCT	NCOA6	-	NULL	ENSG00000198646		0.458	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	-	0	70	0	C	NM_014071		33329232	-1	tier1	-	no_errors	ENST00000359003	ensembl	human	known	74_37	missense	47.22	38	34	SNP	1.000	T	T	33329232	C	T	33329232	3	4	7	1	0	0	0	0	1	0	0	0	10272	797	28	3	1383	3	NCOA6	20	33329232	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	260733	33329232	29696288	283	2147											
MMP24	10893	genome.wustl.edu	37	chr20	33862215	33862215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcggcggaaggagcggCggctgccccaggacgacgtg	7	3	20	11	6	0	0	0	0	0	0	0	5	0	4	2	7	3	1	2	7	1	0	rs372291830		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:33862215C>T	ENST00000246186.6	+	9	1826	c.1741C>T	c.(1741-1743)Cgg>Tgg	p.R581W	MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000453892.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	581		Cleavage; by furin. {ECO:0000250}.			cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GAAGGAGCGGCGGCTGCCCCA	0.642																																																	0													80	97	92					20																	33862215		2127	4224	6351	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1741C>T	20.37:g.33862215C>T	ENSP00000246186:p.Arg581Trp		B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R581W	ENST00000246186.6	37	c.1741	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037035	0.75617	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.32023	1.47	4.97	2.94	0.34122	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.298413	0.32273	N	0.006323	T	0.39410	0.1077	L	0.34521	1.04	0.40599	D	0.981568	D	0.61697	0.99	P	0.61658	0.892	T	0.23868	-1.0176	10	0.66056	D	0.02	.	12.7128	0.57100	0.3001:0.6999:0.0:0.0	.	581	Q9Y5R2	MMP24_HUMAN	W	581;529	ENSP00000246186:R581W	ENSP00000246186:R581W	R	+	1	2	MMP24	33325629	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.973000	0.63763	0.453000	0.26858	0.563000	0.77884	CGG	MMP24	-	pfam_Pept_M10A_metallopeptidase_C	ENSG00000125966		0.642	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4	-	0	40	0	C	NM_006690		33862215	1	tier1	-	no_errors	ENST00000246186	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	T	T	33862215	C	T	33862215	3	4	7	1	0	0	0	0	1	0	0	0	9699	759	27	1	1525	1	MMP24	20	33862215	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	532983	33862215	29163305	284	2148											
GDF5	8200	genome.wustl.edu	37	chr20	34022031	34022031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagcgagccttaaggttCttgctgggtcgcttgccctg	4	12	13	12	2	1	0	0	0	1	0	2	1	1	0	2	2	5	4	2	2	1	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:34022031C>T	ENST00000374372.1	-	4	1685	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	GDF5OS_ENST00000374375.1_Silent_p.F25F|GDF5_ENST00000374369.3_Silent_p.K394K			P43026	GDF5_HUMAN	growth differentiation factor 5	394					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTTAAGGTTCTTGCTGGGTC	0.602																																																	0													98	95	96					20																	34022031		2203	4300	6503	SO:0001819	synonymous_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1182G>A	20.37:g.34022031C>T			E1P5Q2|Q96SB1	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.K394	ENST00000374372.1	37	c.1182	CCDS13254.1	20																																																																																			GDF5	-	NULL	ENSG00000125965		0.602	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	-	0	44	0	C			34022031	-1	tier1	-	no_errors	ENST00000374369	ensembl	human	known	74_37	silent	20.00	24	6	SNP	1.000	T	T	34022031	C	T	34022031	2	4	7	1	0	0	0	0	0	0	0	1	6342	912	32	3		3	GDF5	20	34022031	Silent	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	159816	34022031	29003489	285	2149											
SLC2A10	81031	genome.wustl.edu	37	chr20	45354893	45354893	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgctcgggggcatgcActgctgcgctggaccgcact	4	7	14	16	4	0	0	0	0	0	0	1	1	0	1	2	3	4	6	2	3	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:45354893A>C	ENST00000359271.2	+	2	1468	c.1218A>C	c.(1216-1218)gcA>gcC	p.A406A		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	406					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGGGCATGCACTGCTGCGCT	0.632																																																	0													41	41	41					20																	45354893		2203	4300	6503	SO:0001819	synonymous_variant	0			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1218A>C	20.37:g.45354893A>C			A8K4J6|Q3MIX5|Q9H4I6	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.A406	ENST00000359271.2	37	c.1218	CCDS13402.1	20																																																																																			SLC2A10	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197496		0.632	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SLC2A10	HGNC	protein_coding	OTTHUMT00000079578.2	-	0	89	0	A			45354893	1	tier1	-	no_errors	ENST00000359271	ensembl	human	known	74_37	silent	5.88	112	7	SNP	0.000	C	C	45354893	A	C	45354893	2	2	7	1	0	0	0	0	0	0	0	1	14584	146	6	4		4	SLC2A10	20	45354893	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	11332862	45354893	17670627	286	2150											
ZGPAT	84619	genome.wustl.edu	37	chr20	62365093	62365093	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactccagctatgccagaggTatggcagcagctgcggagcc	9	6	14	12	1	0	1	0	0	0	1	1	3	1	2	3	3	6	5	3	3	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:62365093T>C	ENST00000328969.5	+	4	998		c.e4+2		ZGPAT_ENST00000357119.4_Intron|ZGPAT_ENST00000355969.6_Splice_Site|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Splice_Site|ZGPAT_ENST00000448100.2_Splice_Site|RP4-583P15.15_ENST00000490623.2_Splice_Site|ZGPAT_ENST00000478385.1_Splice_Site	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATGCCAGAGGTATGGCAGCAG	0.642																																																	0													44	46	45					20																	62365093		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.871+2T>C	20.37:g.62365093T>C			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Splice_Site	SNP	-	e3+2	ENST00000328969.5	37	c.871+2	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212082	0.58452	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000369967;ENST00000328969	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4421	0.67325	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZGPAT	61835537	1.000000	0.71417	0.992000	0.48379	0.564000	0.35744	6.840000	0.75369	2.155000	0.67459	0.482000	0.46254	.	ZGPAT	-	-	ENSG00000197114		0.642	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	-	0	69	0	T	NM_181484	Intron	62365093	1	tier1	-	no_errors	ENST00000328969	ensembl	human	known	74_37	splice_site	15.79	48	9	SNP	1.000	C	C	62365093	T	C	62365093	5	2	7	1	0	0	0	0	0	0	1	0	17722	1652	57	4	883	4	ZGPAT	20	62365093	Splice_Site	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	17010200	62365093	660427	287	2151											
UCKL1	54963	genome.wustl.edu	37	chr20	62571550	62571550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgacccgcttgtccaccGccgtggtgatgattctcact	6	12	9	14	3	1	3	1	3	1	0	3	3	2	3	4	1	0	1	4	1	0	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr20:62571550G>A	ENST00000354216.6	-	14	1562	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.A507V|UCKL1_ENST00000369908.5_Missense_Mutation_p.A492V|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	507					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTGTCCACCGCCGTGGTGAT	0.602																																																	0													95	76	82					20																	62571550		2200	4299	6499	SO:0001583	missense	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1520C>T	20.37:g.62571550G>A	ENSP00000346155:p.Ala507Val		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.A507V	ENST00000354216.6	37	c.1520	CCDS13547.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.436841	0.96168	.	.	ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.63877	0.919;0.787	T	0.79621	-0.1727	9	0.44086	T	0.13	-35.9962	17.5706	0.87933	0.0:0.0:1.0:0.0	.	492;507	B7Z8N2;Q9NWZ5	.;UCKL1_HUMAN	V	507;507;492	.	ENSP00000346155:A507V	A	-	2	0	UCKL1	62041994	1.000000	0.71417	0.536000	0.28039	0.929000	0.56500	9.385000	0.97223	2.502000	0.84385	0.655000	0.94253	GCG	UCKL1	-	NULL	ENSG00000198276		0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	-	0	56	0	G	NM_017859		62571550	-1	tier1	-	no_errors	ENST00000354216	ensembl	human	known	74_37	missense	12.00	43	6	SNP	0.997	A	A	62571550	G	A	62571550	3	1	7	1	0	0	0	0	1	0	0	0	16974	1087	38	1	134	1	UCKL1	20	62571550	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	206457	62571550	453970	288	2152											
KRTAP24-1	643803	genome.wustl.edu	37	chr21	31655245	31655245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtagacatggagcctgcAggcatgctcagtggtcgctg	8	9	15	9	1	1	1	1	0	0	1	2	2	1	2	1	3	3	6	1	3	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:31655245A>G	ENST00000340345.4	-	1	31	c.6T>C	c.(4-6)ccT>ccC	p.P2P		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	2						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGGAGCCTGCAGGCATGCTCA	0.488																																																	0													30	31	31					21																	31655245		2032	4207	6239	SO:0001819	synonymous_variant	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.6T>C	21.37:g.31655245A>G			Q1XDX0	Silent	SNP	pfam_KRTAP_PMG	p.P2	ENST00000340345.4	37	c.6	CCDS42915.1	21																																																																																			KRTAP24-1	-	NULL	ENSG00000188694		0.488	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	HGNC	protein_coding	OTTHUMT00000246806.2	-	0	21	0	A	NM_001085455		31655245	-1	tier1	-	no_errors	ENST00000340345	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.000	G	G	31655245	A	G	31655245	2	3	7	1	0	0	0	0	0	0	0	1	8570	175	7	4		4	KRTAP24-1	21	31655245	Silent	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09		31655245	16474650	289	2153											
ITSN1	6453	genome.wustl.edu	37	chr21	35122555	35122555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagtatcttctgttcccAcagcagctgtgccccccctg	5	11	7	18	0	2	0	0	0	2	0	3	0	3	0	5	0	3	4	5	0	2	4			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:35122555A>G	ENST00000381318.3	+	6	742	c.454A>G	c.(454-456)Aca>Gca	p.T152A	ITSN1_ENST00000399326.3_Missense_Mutation_p.T152A|ITSN1_ENST00000399353.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.T152A|ITSN1_ENST00000399367.3_Missense_Mutation_p.T152A|ITSN1_ENST00000399352.1_Missense_Mutation_p.T152A|ITSN1_ENST00000381285.4_Missense_Mutation_p.T152A|ITSN1_ENST00000399338.4_Missense_Mutation_p.T152A|ITSN1_ENST00000379960.5_Missense_Mutation_p.T152A|ITSN1_ENST00000399355.2_Missense_Mutation_p.T152A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.T152A|ITSN1_ENST00000381291.4_Missense_Mutation_p.T152A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	152					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTCTGTTCCCACAGCAGCTGT	0.542																																																	0													123	104	110					21																	35122555		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.454A>G	21.37:g.35122555A>G	ENSP00000370719:p.Thr152Ala		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.T152A	ENST00000381318.3	37	c.454	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	A	9.206	1.029792	0.19512	.	.	ENSG00000205726	ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.92;0.86;0.99;1.39;0.92;1.27;1.91;0.95;1.92;1.94	5.2	-6.27	0.02026	.	0.426689	0.27447	N	0.019321	T	0.28632	0.0709	L	0.54323	1.7	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.10636	-1.0621	10	0.36615	T	0.2	.	1.4376	0.02347	0.2208:0.378:0.1373:0.2639	.	152;152;152;152;152;152	A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3	.;.;.;.;ITSN1_HUMAN;.	A	152	ENSP00000370719:T152A;ENSP00000370691:T152A;ENSP00000370685:T152A;ENSP00000382301:T152A;ENSP00000382289:T152A;ENSP00000382292:T152A;ENSP00000382286:T152A;ENSP00000382275:T152A;ENSP00000387377:T152A;ENSP00000382265:T152A;ENSP00000369294:T152A	ENSP00000369294:T152A	T	+	1	0	ITSN1	34044425	0.126000	0.22350	0.000000	0.03702	0.016000	0.09150	0.073000	0.14640	-1.011000	0.03391	0.454000	0.30748	ACA	ITSN1	-	NULL	ENSG00000205726		0.542	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0	51	0	A	NM_003024		35122555	1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.002	G	G	35122555	A	G	35122555	3	3	7	1	0	0	0	0	1	0	0	0	7953	159	6	4	472	4	ITSN1	21	35122555	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	3467310	35122555	13007340	290	2154											
DOPEY2	9980	genome.wustl.edu	37	chr21	37652633	37652633	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgagaaaacaatgtttaAggatttaatgagtaagttct	16	14	8	3	0	2	2	1	2	1	1	2	4	2	3	0	1	1	3	0	1	6	6			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:37652633A>T	ENST00000399151.3	+	31	6105	c.6020A>T	c.(6019-6021)aAg>aTg	p.K2007M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2007					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAATGTTTAAGGATTTAATG	0.328																																																	0													181	162	168					21																	37652633		2202	4299	6501	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6020A>T	21.37:g.37652633A>T	ENSP00000382104:p.Lys2007Met		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.K2007M	ENST00000399151.3	37	c.6020	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436881	0.83885	.	.	ENSG00000142197	ENST00000399151	T	0.44083	0.93	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.66839	0.2830	M	0.81239	2.535	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71494	-0.4576	10	0.62326	D	0.03	3.4813	15.4586	0.75336	1.0:0.0:0.0:0.0	.	2000;2007	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	2007	ENSP00000382104:K2007M	ENSP00000382104:K2007M	K	+	2	0	DOPEY2	36574503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.820000	0.92003	2.058000	0.61347	0.533000	0.62120	AAG	DOPEY2	-	NULL	ENSG00000142197		0.328	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1		0	70	0	A	NM_005128		37652633	1			no_errors	ENST00000399151	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	37652633	A	T	37652633	3	4	7	1	0	0	0	0	1	0	0	0	4722	72	3	5	6138	5	DOPEY2	21	37652633	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	2530078	37652633	10477262	291	2155											
SIM2	6493	genome.wustl.edu	37	chr21	38115737	38115737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagcaggtgtccactGccaagtcccaggactcctgg	7	7	12	15	0	0	0	0	0	0	0	3	2	3	2	5	4	2	1	5	4	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:38115737G>A	ENST00000290399.6	+	9	1661	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	SIM2_ENST00000430056.3_Missense_Mutation_p.A350T	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	350	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GGTGTCCACTGCCAAGTCCCA	0.532																																																	0													119	122	121					21																	38115737		2203	4300	6503	SO:0001583	missense	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1048G>A	21.37:g.38115737G>A	ENSP00000290399:p.Ala350Thr		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.A350T	ENST00000290399.6	37	c.1048	CCDS13646.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.376|7.376	0.627845|0.627845	0.14257|0.14257	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000290399;ENST00000430056|ENST00000431229	T;T|.	0.05513|.	3.44;3.43|.	4.49|4.49	-1.14|-1.14	0.09741|0.09741	Single-minded, C-terminal (1);|.	0.511841|.	0.13686|.	U|.	0.369855|.	T|T	0.11537|0.11537	0.0281|0.0281	N|N	0.01874|0.01874	-0.695|-0.695	0.22142|0.22142	N|N	0.999339|0.999339	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.31668|0.31668	-0.9935|-0.9935	10|5	0.21540|.	T|.	0.41|.	.|.	7.9172|7.9172	0.29825|0.29825	0.0:0.0747:0.4223:0.503|0.0:0.0747:0.4223:0.503	.|.	350;350|.	Q14190;Q14190-2|.	SIM2_HUMAN;.|.	T|Y	350|287	ENSP00000290399:A350T;ENSP00000404176:A350T|.	ENSP00000290399:A350T|.	A|C	+|+	1|2	0|0	SIM2|SIM2	37037607|37037607	0.809000|0.809000	0.29036|0.29036	0.350000|0.350000	0.25708|0.25708	0.987000|0.987000	0.75469|0.75469	1.320000|1.320000	0.33666|0.33666	-0.413000|-0.413000	0.07507|0.07507	-0.521000|-0.521000	0.04368|0.04368	GCC|TGC	SIM2	-	NULL	ENSG00000159263		0.532	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	-	0	40	0	G	NM_009586		38115737	1	tier1	-	no_errors	ENST00000290399	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.784	A	A	38115737	G	A	38115737	3	1	7	1	0	0	0	0	1	0	0	0	14369	1319	46	3	1082	3	SIM2	21	38115737	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	463104	38115737	10014158	292	2156											
ABCG1	9619	genome.wustl.edu	37	chr21	43711671	43711671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgcagccgtccgacgccGtgcgctttgtgctgtttgcc	2	11	13	15	7	0	0	0	0	0	0	2	1	1	0	4	0	4	4	4	0	0	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:43711671G>A	ENST00000361802.2	+	13	1739	c.1594G>A	c.(1594-1596)Gtg>Atg	p.V532M	ABCG1_ENST00000398437.1_Missense_Mutation_p.V678M|ABCG1_ENST00000340588.4_Missense_Mutation_p.V640M|ABCG1_ENST00000398449.3_Missense_Mutation_p.V520M|ABCG1_ENST00000347800.2_Missense_Mutation_p.V517M|ABCG1_ENST00000343687.3_Missense_Mutation_p.V531M|ABCG1_ENST00000398457.2_Missense_Mutation_p.V522M|ABCG1_ENST00000462050.1_3'UTR	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	532	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GTCCGACGCCGTGCGCTTTGT	0.662																																																	0													104	87	93					21																	43711671		2203	4300	6503	SO:0001583	missense	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1594G>A	21.37:g.43711671G>A	ENSP00000354995:p.Val532Met		Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.V678M	ENST00000361802.2	37	c.2032	CCDS13682.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.121|9.121	1.008984|1.008984	0.19199|0.19199	.|.	.|.	ENSG00000160179|ENSG00000160179	ENST00000489035;ENST00000469119;ENST00000482161|ENST00000398457;ENST00000347800;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.|D;D;D;D;D;D;D	.|0.85861	.|-1.95;-1.95;-1.94;-1.89;-1.95;-2.04;-2.02	4.27|4.27	2.16|2.16	0.27623|0.27623	.|ABC-2 type transporter (1);	.|0.330796	.|0.28001	.|N	.|0.016991	T|T	0.69682|0.69682	0.3138|0.3138	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999979|0.999979	.|B;B;B;B;B;B	.|0.33477	.|0.02;0.413;0.027;0.011;0.04;0.153	.|B;B;B;B;B;B	.|0.38296	.|0.005;0.27;0.042;0.04;0.04;0.053	T|T	0.60010|0.60010	-0.7346|-0.7346	5|9	.|.	.|.	.|.	-27.761|-27.761	8.9913|8.9913	0.36026|0.36026	0.0:0.557:0.3164:0.1267|0.0:0.557:0.3164:0.1267	.|.	.|543;531;532;520;517;522	.|B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.|.;.;ABCG1_HUMAN;.;.;.	H|M	267;255;255|522;517;520;532;531;678;640	.|ENSP00000381475:V522M;ENSP00000291524:V517M;ENSP00000381467:V520M;ENSP00000354995:V532M;ENSP00000339744:V531M;ENSP00000381464:V678M;ENSP00000343820:V640M	.|.	R|V	+|+	2|1	0|0	ABCG1|ABCG1	42584740|42584740	0.598000|0.598000	0.26882|0.26882	0.997000|0.997000	0.53966|0.53966	0.809000|0.809000	0.45718|0.45718	1.148000|1.148000	0.31614|0.31614	0.890000|0.890000	0.36211|0.36211	0.591000|0.591000	0.81541|0.81541	CGT|GTG	ABCG1	-	pfam_ABC_2_trans,tigrfam_Pigment_permease	ENSG00000160179		0.662	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	-	0	66	0	G	NM_207174		43711671	1	tier1	-	no_errors	ENST00000398437	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.064	A	A	43711671	G	A	43711671	3	1	7	1	0	0	0	0	1	0	0	0	68	1145	40	1	1812	1	ABCG1	21	43711671	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	5595934	43711671	4418224	293	2157											
DIP2A	23181	genome.wustl.edu	37	chr21	47986589	47986589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgagcacacaggagcatcGctgagtggtaagagcccagg	11	5	14	11	2	0	2	0	1	0	1	2	4	1	3	2	3	3	4	2	3	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr21:47986589G>A	ENST00000417564.2	+	37	4477	c.4456G>A	c.(4456-4458)Gct>Act	p.A1486T	DIP2A_ENST00000318711.7_Missense_Mutation_p.A1487T|DIP2A_ENST00000479654.1_3'UTR|DIP2A_ENST00000400274.1_Missense_Mutation_p.A1482T			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1486					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CAGGAGCATCGCTGAGTGGTA	0.587																																																	0													95	98	97					21																	47986589		2197	4300	6497	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4456G>A	21.37:g.47986589G>A	ENSP00000392066:p.Ala1486Thr		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A1487T	ENST00000417564.2	37	c.4459	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830762	0.71258	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.12361	2.69;2.69;2.69	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.11367	0.0277	N	0.12611	0.24	0.80722	D	1	D;B	0.55800	0.973;0.189	P;B	0.49361	0.608;0.053	T	0.03706	-1.1011	10	0.02654	T	1	-20.0949	18.425	0.90606	0.0:0.0:1.0:0.0	.	1487;1486	E9PER1;Q14689	.;DIP2A_HUMAN	T	1482;1487;1486	ENSP00000383133:A1482T;ENSP00000323633:A1487T;ENSP00000392066:A1486T	ENSP00000323633:A1487T	A	+	1	0	DIP2A	46811017	1.000000	0.71417	0.948000	0.38648	0.745000	0.42441	4.756000	0.62205	2.599000	0.87857	0.655000	0.94253	GCT	DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1		0	39	0	G	NM_015151		47986589	1			no_errors	ENST00000318711	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	47986589	G	A	47986589	3	1	7	1	0	0	0	0	1	0	0	0	4541	1087	38	1	4715	1	DIP2A	21	47986589	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	4274918	47986589	143306	294	2158											
SMARCB1	6598	genome.wustl.edu	37	chr22	24159083	24159083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcctaccccacggacaGcatcctggaggaccagtcag	10	5	11	15	2	1	0	1	0	0	0	3	4	3	3	5	3	2	1	5	3	1	1	rs372924301		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:24159083G>C	ENST00000263121.7	+	6	951	c.755G>C	c.(754-756)aGc>aCc	p.S252T	SMARCB1_ENST00000344921.6_Missense_Mutation_p.S261T|SMARCB1_ENST00000407422.3_Missense_Mutation_p.S243T|SMARCB1_ENST00000407082.3_Missense_Mutation_p.S206T|SMARCB1_ENST00000477836.1_3'UTR	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	252	2 X approximate tandem repeats.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CCCACGGACAGCATCCTGGAG	0.572			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	4	Unknown(3)|Deletion - Frameshift(1)	central_nervous_system(3)|soft_tissue(1)											113	88	96					22																	24159083		2203	4300	6503	SO:0001583	missense	0			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.755G>C	22.37:g.24159083G>C	ENSP00000263121:p.Ser252Thr		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.S252T	ENST00000263121.7	37	c.755	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	G	8.362	0.833334	0.16820	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.17	5.17	0.71159	.	0.148074	0.85682	D	0.000000	T	0.48677	0.1513	N	0.00538	-1.39	0.58432	D	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.001;0.002;0.004	T	0.52419	-0.8578	10	0.15952	T	0.53	-17.1669	18.0935	0.89481	0.0:0.0:1.0:0.0	.	261;243;252	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	T	261;252;243;206	ENSP00000340883:S261T;ENSP00000263121:S252T;ENSP00000383984:S243T;ENSP00000385226:S206T	ENSP00000263121:S252T	S	+	2	0	SMARCB1	22489083	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.559000	0.73946	2.602000	0.87976	0.585000	0.79938	AGC	SMARCB1	-	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	ENSG00000099956		0.572	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1		0	39	0	G	NM_003073		24159083	1			no_errors	ENST00000263121	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	C	C	24159083	G	C	24159083	3	2	7	1	0	0	0	0	1	0	0	0	14819	971	34	5	777	5	SMARCB1	22	24159083	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09		24159083	27145483	295	2159											
NCF4	4689	genome.wustl.edu	37	chr22	37273671	37273671	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacttttcccatgcaggCgggagttccagagagaggac	9	8	13	11	1	0	3	0	1	0	2	2	6	2	5	3	3	1	2	3	3	0	3	rs200598824		TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:37273671C>T	ENST00000248899.6	+	10	1010	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	276	OPR.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	CCCATGCAGGCGGGAGTTCCA	0.557																																																	0													51	54	53					22																	37273671		2203	4300	6503	SO:0001630	splice_region_variant	0			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"neutrophil NADPH oxidase factor 4"	601488	"neutrophil cytosolic factor 4 (40kD)"			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.825-1C>T	22.37:g.37273671C>T			A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.R276W	ENST00000248899.6	37	c.826	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	C	19.13	3.766972	0.69878	.	.	ENSG00000100365	ENST00000248899	T	0.23950	1.88	5.44	4.38	0.52667	Phox/Bem1p (2);	.	.	.	.	T	0.45776	0.1359	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	T	0.45687	-0.9244	9	0.87932	D	0	.	13.9157	0.63895	0.1515:0.8485:0.0:0.0	.	276	Q15080	NCF4_HUMAN	W	276	ENSP00000248899:R276W	ENSP00000248899:R276W	R	+	1	2	NCF4	35603617	0.976000	0.34144	1.000000	0.80357	0.817000	0.46193	0.031000	0.13710	2.556000	0.86216	0.650000	0.86243	CGG	NCF4	-	pfam_OPR_PB1,smart_OPR_PB1	ENSG00000100365		0.557	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	-	0	62	0	C	NM_000631	Missense_Mutation	37273671	1	tier1	rs200598824	no_errors	ENST00000248899	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T	T	37273671	C	T	37273671	5	4	7	1	0	0	0	0	0	0	1	0	10257	782	27	1	1105	1	NCF4	22	37273671	Splice_Site	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	13114588	37273671	14030895	296	2160											
CERK	64781	genome.wustl.edu	37	chr22	47108089	47108089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcagtggtgatggaggCtaaggtgaacagtggtgcca	10	9	17	5	0	1	2	1	2	0	0	1	4	1	3	1	5	2	1	1	5	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chr22:47108089C>A	ENST00000216264.8	-	4	593	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	161	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTGATGGAGGCTAAGGTGAAC	0.403																																																	0													272	205	228					22																	47108089		2203	4300	6503	SO:0001583	missense	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.481G>T	22.37:g.47108089C>A	ENSP00000216264:p.Ala161Ser		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.A161S	ENST00000216264.8	37	c.481	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591628	0.66219	.	.	ENSG00000100422	ENST00000216264	T	0.25749	1.78	5.2	5.2	0.72013	Diacylglycerol kinase, catalytic domain (3);	0.052679	0.85682	D	0.000000	T	0.53594	0.1806	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54984	-0.8211	10	0.44086	T	0.13	-18.6068	16.2254	0.82286	0.0:1.0:0.0:0.0	.	161	Q8TCT0	CERK1_HUMAN	S	161	ENSP00000216264:A161S	ENSP00000216264:A161S	A	-	1	0	CERK	45486753	1.000000	0.71417	0.879000	0.34478	0.142000	0.21351	6.700000	0.74619	2.415000	0.81967	0.563000	0.77884	GCC	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	ENSG00000100422		0.403	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	-	0	129	0	C	NM_022766		47108089	-1	tier1	-	no_errors	ENST00000216264	ensembl	human	known	74_37	missense	12.40	106	15	SNP	0.994	A	A	47108089	C	A	47108089	3	1	7	1	0	0	0	0	1	0	0	0	3274	797	28	3	1172	3	CERK	22	47108089	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	9834418	47108089	4196477	297	2161											
NLGN4X	57502	genome.wustl.edu	37	chrX	5827149	5827149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggccccagcccccgAgccaaagatggtcactctct	10	5	10	16	1	2	1	1	0	1	1	3	3	2	2	5	3	2	0	5	3	1	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:5827149A>G	ENST00000381095.3	-	4	1384	c.757T>C	c.(757-759)Tcg>Ccg	p.S253P	NLGN4X_ENST00000381092.1_Missense_Mutation_p.S253P|NLGN4X_ENST00000538097.1_Missense_Mutation_p.S253P|NLGN4X_ENST00000275857.6_Missense_Mutation_p.S253P|NLGN4X_ENST00000381093.2_Missense_Mutation_p.S273P	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	253					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCAGCCCCCGAGCCAAAGATG	0.582																																																	0													69	64	66					X																	5827149		2203	4300	6503	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.757T>C	X.37:g.5827149A>G	ENSP00000370485:p.Ser253Pro		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.S273P	ENST00000381095.3	37	c.817	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534498	0.45073	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	3.48	3.48	0.39840	Carboxylesterase, type B (1);	.	.	.	.	T	0.78997	0.4372	M	0.74546	2.27	0.52501	D	0.999958	P;D;D	0.89917	0.903;1.0;0.999	P;D;D	0.81914	0.561;0.995;0.921	T	0.79999	-0.1566	9	0.59425	D	0.04	.	10.9666	0.47416	1.0:0.0:0.0:0.0	.	310;253;273	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	P	253;273;253;253;253	ENSP00000370485:S253P;ENSP00000370483:S273P;ENSP00000275857:S253P;ENSP00000370482:S253P;ENSP00000439203:S253P	ENSP00000275857:S253P	S	-	1	0	NLGN4X	5837149	1.000000	0.71417	0.778000	0.31720	0.272000	0.26649	5.943000	0.70211	1.222000	0.43521	0.486000	0.48141	TCG	NLGN4X	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000146938		0.582	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	-	0	82	0	A	NM_020742		5827149	-1	tier1	-	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	12.70	54	8	SNP	1.000	G	G	5827149	A	G	5827149	3	3	7	1	0	0	0	0	1	0	0	0	10503	304	11	4	1705	4	NLGN4X	23	5827149	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09		5827149	149443411	298	2162											
FAM9C	171484	genome.wustl.edu	37	chrX	13058886	13058886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatcatacctttttagtTgtgttgttctcaaaacattt	12	18	4	7	0	2	0	2	0	1	0	3	0	2	0	1	0	3	3	1	0	6	8			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:13058886T>C	ENST00000333995.3	-	5	450	c.320A>G	c.(319-321)cAa>cGa	p.Q107R	FAM9C_ENST00000380625.3_Missense_Mutation_p.Q107R|FAM9C_ENST00000542843.1_3'UTR			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	107						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCTTTTTAGTTGTGTTGTTCT	0.289																																																	0													97	76	83					X																	13058886		2202	4293	6495	SO:0001583	missense	0				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"testis expressed 39C"	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.320A>G	X.37:g.13058886T>C	ENSP00000334430:p.Gln107Arg		B2R9G7|Q5HYJ6	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.Q107R	ENST00000333995.3	37	c.320	CCDS35203.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.029|3.029	-0.200086|-0.200086	0.06219|0.06219	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000438997|ENST00000380625;ENST00000333995	.|T;T	.|0.21932	.|1.98;1.98	0.597|0.597	-0.651|-0.651	0.11454|0.11454	.|.	.|.	.|.	.|.	.|.	T|T	0.12008|0.12008	0.0292|0.0292	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.19666	.|0.026	T|T	0.27191|0.27191	-1.0081|-1.0081	4|8	.|0.72032	.|D	.|0.01	.|.	.|.	.|.	.|.	.|.	.|107	.|Q8IZT9	.|FAM9C_HUMAN	D|R	67|107	.|ENSP00000369999:Q107R;ENSP00000334430:Q107R	.|ENSP00000334430:Q107R	N|Q	-|-	1|2	0|0	FAM9C|FAM9C	12968807|12968807	0.998000|0.998000	0.40836|0.40836	0.001000|0.001000	0.08648|0.08648	0.048000|0.048000	0.14542|0.14542	1.385000|1.385000	0.34408|0.34408	-0.349000|-0.349000	0.08274|0.08274	0.158000|0.158000	0.16466|0.16466	AAC|CAA	FAM9C	-	pfam_Cor1/Xlr/Xmr	ENSG00000187268		0.289	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	FAM9C	HGNC	protein_coding	OTTHUMT00000316476.1	-	0	42	0	T	NM_174901		13058886	-1	tier1	-	no_errors	ENST00000333995	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.001	C	C	13058886	T	C	13058886	3	2	7	1	0	0	0	0	1	0	0	0	5683	1812	63	4	192	4	FAM9C	23	13058886	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	7231737	13058886	142211674	299	2163											
FAM47C	442444	genome.wustl.edu	37	chrX	37029016	37029016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttctgactctcttcaaCgtagacacacatcgagaaaa	13	11	7	10	2	3	3	1	1	2	2	5	4	3	3	0	0	1	2	0	0	4	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:37029016C>T	ENST00000358047.3	+	1	2585	c.2533C>T	c.(2533-2535)Cgt>Tgt	p.R845C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	845										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTCTCTTCAACGTAGACACAC	0.483																																																	0													110	102	105					X																	37029016		2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2533C>T	X.37:g.37029016C>T	ENSP00000367913:p.Arg845Cys		Q6ZU46	Missense_Mutation	SNP	NULL	p.R845C	ENST00000358047.3	37	c.2533	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	C	7.360	0.624608	0.14193	.	.	ENSG00000198173	ENST00000358047	T	0.12672	2.66	0.217	0.217	0.15264	.	.	.	.	.	T	0.12263	0.0298	N	0.25647	0.755	0.09310	N	1	D	0.61697	0.99	P	0.49953	0.627	T	0.24835	-1.0149	8	0.38643	T	0.18	.	.	.	.	.	845	Q5HY64	FA47C_HUMAN	C	845	ENSP00000367913:R845C	ENSP00000367913:R845C	R	+	1	0	FAM47C	36938937	0.002000	0.14202	0.020000	0.16555	0.020000	0.10135	-0.550000	0.06034	0.273000	0.22049	0.277000	0.19347	CGT	FAM47C	-	NULL	ENSG00000198173		0.483	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0	52	0	C	NM_001013736		37029016	1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	71.43	14	35	SNP	0.137	T	T	37029016	C	T	37029016	3	4	7	1	0	0	0	0	1	0	0	0	5593	536	19	1	2535	1	FAM47C	23	37029016	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	23970130	37029016	118241544	300	2164											
RBM10	8241	genome.wustl.edu	37	chrX	47044965	47044965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggcctgtctgctctGccgacgccagttccccagca	6	8	11	16	2	2	0	0	0	2	0	3	2	3	0	5	1	4	4	5	1	1	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:47044965G>T	ENST00000377604.3	+	20	3033	c.2291G>T	c.(2290-2292)tGc>tTc	p.C764F	RBM10_ENST00000329236.7_Missense_Mutation_p.C686F|RBM10_ENST00000345781.6_Missense_Mutation_p.C687F	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	764					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTCTGCTCTGCCGACGCCAG	0.657																																					Melanoma(171;120 2705 19495 39241)												0													31	24	26					X																	47044965		2198	4291	6489	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2291G>T	X.37:g.47044965G>T	ENSP00000366829:p.Cys764Phe		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.C764F	ENST00000377604.3	37	c.2291	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151249	0.78001	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	D;D;D	0.90197	-2.19;-2.63;-2.37	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.96125	0.8737	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.997;0.999;1.0;0.996;0.999	D	0.96542	0.9401	10	0.62326	D	0.03	-23.2985	16.1684	0.81786	0.0:0.0:1.0:0.0	.	687;829;763;686;764	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	F	764;686;687	ENSP00000366829:C764F;ENSP00000328848:C686F;ENSP00000329659:C687F	ENSP00000328848:C686F	C	+	2	0	RBM10	46929909	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.805000	0.99149	2.509000	0.84616	0.600000	0.82982	TGC	RBM10	-	pfscan_Znf_C2H2	ENSG00000182872		0.657	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	-	0	14	0	G	NM_005676		47044965	1	tier1	-	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T	T	47044965	G	T	47044965	3	4	7	1	0	0	0	0	1	0	0	0	13156	1319	46	3	2365	3	RBM10	23	47044965	Missense_Mutation	SNP	G	TCGA-2H-A9GL-01A-12D-A37C-09	10015949	47044965	108225595	301	2165											
COL4A5	1287	genome.wustl.edu	37	chrX	107858207	107858207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaggaataggtgttcAgggaccaccaggaccaccag	11	5	13	12	0	1	0	1	0	0	0	1	3	1	3	5	4	1	2	5	4	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:107858207A>G	ENST00000361603.2	+	30	2706	c.2462A>G	c.(2461-2463)cAg>cGg	p.Q821R	COL4A5_ENST00000328300.6_Missense_Mutation_p.Q821R	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	821	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATAGGTGTTCAGGGACCACCA	0.418									Alport syndrome with Diffuse Leiomyomatosis																																								0													75	67	70					X																	107858207		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2462A>G	X.37:g.107858207A>G	ENSP00000354505:p.Gln821Arg		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.Q821R	ENST00000361603.2	37	c.2462	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194064	0.38707	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93488	-3.23;-3.18	4.51	4.51	0.55191	.	0.331703	0.29225	N	0.012773	D	0.91922	0.7442	N	0.13272	0.32	0.39313	D	0.965111	D;D;D	0.63046	0.982;0.992;0.982	P;P;P	0.62491	0.762;0.903;0.762	D	0.93059	0.6472	10	0.52906	T	0.07	.	13.2391	0.59987	1.0:0.0:0.0:0.0	.	821;429;821	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	R	821	ENSP00000331902:Q821R;ENSP00000354505:Q821R	ENSP00000331902:Q821R	Q	+	2	0	COL4A5	107744863	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.736000	0.55052	1.737000	0.51674	0.345000	0.21793	CAG	COL4A5	-	pfam_Collagen	ENSG00000188153		0.418	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2		0	24	0	A			107858207	1			no_errors	ENST00000328300	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	G	G	107858207	A	G	107858207	3	3	7	1	0	0	0	0	1	0	0	0	3701	188	7	4	2580	4	COL4A5	23	107858207	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	60813242	107858207	47412353	302	2166											
GRIA3	2892	genome.wustl.edu	37	chrX	122551518	122551518	+	Frame_Shift_Del	DEL	A	A	-																															cttggaagacaacaatgaagAacctcgtgacccacaaagtc																										TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:122551518delA	ENST00000371251.1	+	11	1818	c.1766delA	c.(1765-1767)gaafs	p.E589fs	GRIA3_ENST00000264357.5_Frame_Shift_Del_p.E589fs|GRIA3_ENST00000542149.1_Frame_Shift_Del_p.E589fs|GRIA3_ENST00000371256.5_Frame_Shift_Del_p.E589fs|GRIA3_ENST00000541091.1_Frame_Shift_Del_p.E573fs			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	589					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AACAATGAAGAACCTCGTGAC	0.428																																																	0													237	212	220					X																	122551518		2203	4300	6503	SO:0001589	frameshift_variant	0			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4573	protein-coding gene	gene with protein product		305915	"glutamate receptor, ionotrophic, AMPA 3"	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.1766delA	X.37:g.122551518delA	ENSP00000360297:p.Glu589fs		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Frame_Shift_Del	DEL	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E589fs	ENST00000371251.1	37	c.1766	CCDS14604.1	X																																																																																			GRIA3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000125675		0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1		0	30	0	A	NM_000828		122551518	1	tier1		no_errors	ENST00000264357	ensembl	human	known	74_37	frame_shift_del	8.89	41	4	DEL	1.000	-	-	122551518	A	-	122551518	7	5	7	1	0	1	0	1	0	0	0	0	6796	246	9	0	1808	0	GRIA3	23	122551518	Frame_Shift_Del	DEL	A	TCGA-2H-A9GL-01A-12D-A37C-09	14693311	122551518	32719042	303	2167											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125685850	125685850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatggcctccacatcccTcggacggatgtgggcatata	8	8	14	11	2	0	0	0	0	0	0	3	3	2	3	3	6	0	1	3	6	2	2			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:125685850T>C	ENST00000371126.1	-	1	984	c.742A>G	c.(742-744)Agg>Ggg	p.R248G		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	248										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TCCACATCCCTCGGACGGATG	0.647																																																	0													39	39	39					X																	125685850		2203	4300	6503	SO:0001583	missense	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.742A>G	X.37:g.125685850T>C	ENSP00000360167:p.Arg248Gly		Q8IYK3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R248G	ENST00000371126.1	37	c.742	CCDS14610.1	X	.	.	.	.	.	.	.	.	.	.	T	3.422	-0.117965	0.06838	.	.	ENSG00000198889	ENST00000371126	T	0.18338	2.22	3.82	1.4	0.22301	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.792940	0.10729	N	0.640835	T	0.14570	0.0352	L	0.53249	1.67	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.33701	-0.9858	10	0.26408	T	0.33	.	4.943	0.13975	0.0:0.2614:0.0:0.7386	.	248	Q5VU92	DC121_HUMAN	G	248	ENSP00000360167:R248G	ENSP00000360167:R248G	R	-	1	2	DCAF12L1	125513531	0.517000	0.26226	0.000000	0.03702	0.009000	0.06853	1.745000	0.38278	0.191000	0.20236	0.347000	0.21830	AGG	DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.647	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	72	0	T	NM_178470		125685850	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	missense	90.70	4	39	SNP	0.000	C	C	125685850	T	C	125685850	3	2	7	1	0	0	0	0	1	0	0	0	4273	1550	54	4	653	4	DCAF12L1	23	125685850	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	3134332	125685850	29584710	304	2168											
FRMD7	90167	genome.wustl.edu	37	chrX	131212756	131212756	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgtctctgggatcagggTtaggattgggctcagtgtta	9	13	14	5	0	3	0	2	0	1	0	4	2	3	2	0	4	0	3	0	4	3	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:131212756T>A	ENST00000298542.4	-	12	1464	c.1289A>T	c.(1288-1290)aAc>aTc	p.N430I	FRMD7_ENST00000464296.1_Missense_Mutation_p.N415I|FRMD7_ENST00000370879.1_Missense_Mutation_p.N310I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	430					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGGATCAGGGTTAGGATTGGG	0.438																																																	0													155	153	154					X																	131212756		2203	4300	6503	SO:0001583	missense	0			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1289A>T	X.37:g.131212756T>A	ENSP00000298542:p.Asn430Ile		C0LLJ3|Q5JX99	Missense_Mutation	SNP	pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain	p.N430I	ENST00000298542.4	37	c.1289	CCDS35397.1	X	.	.	.	.	.	.	.	.	.	.	T	1.033	-0.681352	0.03353	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86297	-2.1;-1.75;-1.87	3.17	-1.02	0.10135	.	0.394529	0.24200	N	0.040621	T	0.71358	0.3330	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.14023	0.01;0.005	T	0.59958	-0.7356	10	0.45353	T	0.12	.	11.4861	0.50354	0.0:0.0:0.6252:0.3748	.	415;430	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	I	310;430;415	ENSP00000359916:N310I;ENSP00000298542:N430I;ENSP00000417996:N415I	ENSP00000298542:N430I	N	-	2	0	FRMD7	131040437	0.001000	0.12720	0.000000	0.03702	0.243000	0.25628	0.091000	0.15046	-0.268000	0.09312	0.486000	0.48141	AAC	FRMD7	-	NULL	ENSG00000165694		0.438	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD7	HGNC	protein_coding	OTTHUMT00000355031.1	-	0	21	0	T	NM_194277		131212756	-1	tier1	-	no_errors	ENST00000298542	ensembl	human	known	74_37	missense	73.33	4	11	SNP	0.000	A	A	131212756	T	A	131212756	3	1	7	1	0	0	0	0	1	0	0	0	6079	1725	60	5	859	5	FRMD7	23	131212756	Missense_Mutation	SNP	T	TCGA-2H-A9GL-01A-12D-A37C-09	5526906	131212756	24057804	305	2169											
MAMLD1	10046	genome.wustl.edu	37	chrX	149638884	149638884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcccagtgccatcaccaCacccaccaccgctgccactg	9	4	6	22	2	1	0	1	0	0	0	1	0	1	0	8	0	2	1	8	0	0	0			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:149638884C>A	ENST00000370401.2	+	4	1349	c.1039C>A	c.(1039-1041)Cac>Aac	p.H347N	MAMLD1_ENST00000432680.2_Missense_Mutation_p.H322N|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H347N|MAMLD1_ENST00000426613.2_Missense_Mutation_p.H322N|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	347				PH -> LQ (in Ref. 1; AAC50551). {ECO:0000305}.	male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					Gccatcaccacacccaccacc	0.622																																																	0													87	56	67					X																	149638884		2203	4300	6503	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1039C>A	X.37:g.149638884C>A	ENSP00000359428:p.His347Asn		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.H322N	ENST00000370401.2	37	c.964	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	7.705	0.693976	0.15039	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.51	4.63	0.57726	.	0.512523	0.20560	N	0.089933	T	0.69904	0.3163	L	0.59436	1.845	0.80722	D	1	P;P;P;P	0.41848	0.557;0.557;0.763;0.763	B;B;P;B	0.47346	0.299;0.299;0.544;0.291	T	0.67585	-0.5633	9	.	.	.	-15.4961	14.7549	0.69557	0.1456:0.8544:0.0:0.0	.	309;322;322;347	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	N	309;347;322;347;322	ENSP00000359428:H347N;ENSP00000414517:H322N;ENSP00000262858:H347N;ENSP00000397438:H322N	.	H	+	1	0	MAMLD1	149389542	0.979000	0.34478	0.029000	0.17559	0.149000	0.21700	4.187000	0.58344	1.053000	0.40415	0.600000	0.82982	CAC	MAMLD1	-	NULL	ENSG00000013619		0.622	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0	32	0	C	NM_005491		149638884	1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	72.73	6	16	SNP	0.940	A	A	149638884	C	A	149638884	3	1	7	1	0	0	0	0	1	0	0	0	9246	478	17	3	1049	3	MAMLD1	23	149638884	Missense_Mutation	SNP	C	TCGA-2H-A9GL-01A-12D-A37C-09	18426128	149638884	5631676	306	2170											
PASD1	139135	genome.wustl.edu	37	chrX	150780178	150780178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagcacagatggagtgAtcatttgtgtggctgaaaac	12	10	12	7	0	1	4	1	3	0	1	1	5	1	5	0	2	2	2	0	2	2	1			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:150780178A>G	ENST00000370357.4	+	4	405	c.160A>G	c.(160-162)Atc>Gtc	p.I54V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	54	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGAGTGATCATTTGTGT	0.333																																																	0													279	232	248					X																	150780178		2203	4300	6503	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.160A>G	X.37:g.150780178A>G	ENSP00000359382:p.Ile54Val		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.I54V	ENST00000370357.4	37	c.160	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	5.131	0.209691	0.09757	.	.	ENSG00000166049	ENST00000370357	T	0.69561	-0.41	5.53	1.7	0.24286	PAS (2);	.	.	.	.	T	0.57257	0.2041	L	0.48218	1.51	0.09310	N	1	B	0.31485	0.325	B	0.35655	0.207	T	0.52457	-0.8573	9	0.62326	D	0.03	-18.3905	4.2	0.10462	0.6397:0.1716:0.1886:0.0	.	54	Q8IV76	PASD1_HUMAN	V	54	ENSP00000359382:I54V	ENSP00000359382:I54V	I	+	1	0	PASD1	150530834	0.978000	0.34361	0.002000	0.10522	0.040000	0.13550	2.668000	0.46816	-0.050000	0.13356	0.437000	0.28790	ATC	PASD1	-	superfamily_PAS,smart_PAS,pfscan_PAS	ENSG00000166049		0.333	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	-	0	33	0	A	NM_173493		150780178	1	tier1	-	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.005	G	G	150780178	A	G	150780178	3	3	7	1	0	0	0	0	1	0	0	0	11510	333	12	4	170	4	PASD1	23	150780178	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	1141294	150780178	4490382	307	2171											
PASD1	139135	genome.wustl.edu	37	chrX	150842603	150842603	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggtcctgttgtccaagtgaAcacttggtcttgcgatgagc	7	12	12	10	2	1	2	0	2	1	0	3	3	3	2	2	2	3	1	2	2	2	3			TCGA-2H-A9GL-01A-12D-A37C-09	TCGA-2H-A9GL-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1db6eb36-0c6f-4b1c-9655-f7f60901d286	18e2cb0a-6aeb-4f02-8895-3a7155ecda0e	g.chrX:150842603A>C	ENST00000370357.4	+	15	2365	c.2120A>C	c.(2119-2121)aAc>aCc	p.N707T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	707						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCAAGTGAACACTTGGTCT	0.547																																																	0													116	109	111					X																	150842603		2203	4300	6503	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2120A>C	X.37:g.150842603A>C	ENSP00000359382:p.Asn707Thr		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.N707T	ENST00000370357.4	37	c.2120	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183597	0.38609	.	.	ENSG00000166049	ENST00000370357	T	0.35973	1.28	3.3	0.831	0.18860	.	.	.	.	.	T	0.19927	0.0479	N	0.19112	0.55	0.09310	N	1	P	0.37101	0.582	B	0.35655	0.207	T	0.16482	-1.0401	9	0.87932	D	0	-5.1288	3.0268	0.06094	0.6051:0.2529:0.142:0.0	.	707	Q8IV76	PASD1_HUMAN	T	707	ENSP00000359382:N707T	ENSP00000359382:N707T	N	+	2	0	PASD1	150593259	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.263000	0.18478	0.066000	0.16515	-0.452000	0.05504	AAC	PASD1	-	NULL	ENSG00000166049		0.547	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2	-	0	30	0	A	NM_173493		150842603	1	tier1	-	no_errors	ENST00000370357	ensembl	human	known	74_37	missense	96.43	1	27	SNP	0.000	C	C	150842603	A	C	150842603	3	2	7	1	0	0	0	0	1	0	0	0	11510	43	2	4	2174	4	PASD1	23	150842603	Missense_Mutation	SNP	A	TCGA-2H-A9GL-01A-12D-A37C-09	62425	150842603	4427957	308	2172											
ATAD3A	55210	genome.wustl.edu	37	chr1	1459346	1459346	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgctgtttgccaaggTgagagcgcctggctgaacag	10	7	15	9	2	0	3	0	2	0	2	0	5	0	3	2	2	3	3	2	2	3	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:1459346T>G	ENST00000378755.5	+	10	1327		c.e10+2		ATAD3A_ENST00000378756.3_Splice_Site|ATAD3A_ENST00000536055.1_Splice_Site	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A						cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TTTGCCAAGGTGAGAGCGCCT	0.627																																																	0													69	65	66					1																	1459346		2203	4298	6501	SO:0001630	splice_region_variant	0			AK025865	CCDS31.1, CCDS53259.1, CCDS53260.1	1p36.33	2010-04-21		2007-02-08	ENSG00000197785	ENSG00000197785		"ATPases / AAA-type"	25567	protein-coding gene	gene with protein product		612316				12477932	Standard	NM_018188		Approved	FLJ10709	uc001afz.2	Q9NVI7	OTTHUMG00000000575	ENST00000378755.5:c.1233+2T>G	1.37:g.1459346T>G			B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50	Splice_Site	SNP	-	e10+2	ENST00000378755.5	37	c.1233+2	CCDS31.1	1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.164999	0.38217	.	.	ENSG00000197785	ENST00000378756;ENST00000378755;ENST00000378759;ENST00000339113;ENST00000536055	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4032	0.60896	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATAD3A	1449209	1.000000	0.71417	0.976000	0.42696	0.714000	0.41099	7.646000	0.83445	1.755000	0.51935	0.454000	0.30748	.	ATAD3A	-	-	ENSG00000197785		0.627	ATAD3A-003	KNOWN	basic|CCDS	protein_coding	ATAD3A	HGNC	protein_coding	OTTHUMT00000001365.1	-	0	140	0	T	NM_018188	Intron	1459346	1	tier1	-	no_errors	ENST00000378755	ensembl	human	known	74_37	splice_site	42.86	68	51	SNP	1.000	G	G	1459346	T	G	1459346	5	3	8	1	0	0	0	0	0	0	1	0	1074	1710	59	4	1273	4	ATAD3A	1	1459346	Splice_Site	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09		1459346	247791275	1	2173											
CASZ1	54897	genome.wustl.edu	37	chr1	10708045	10708045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggaggccgggctgggagCgggcccctccagagaggaca	8	2	18	13	3	0	1	0	0	0	1	1	5	1	4	4	6	1	1	4	6	0	0	rs201167368		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:10708045C>T	ENST00000377022.3	-	16	3627	c.3310G>A	c.(3310-3312)Gct>Act	p.A1104T	CASZ1_ENST00000344008.5_Missense_Mutation_p.A1104T|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1104	Pro-rich.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCTGGGAGCGGGCCCCTCC	0.706													C|||	1	0.000199681	8e-04	0	5008	,	,		14043	0		0	False		,,,				2504	0																0								C	THR/ALA,THR/ALA	1,4399	2.1+/-5.4	0,1,2199	26	30	28		3310,3310	-8.9	0.1	1		28	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	CASZ1	NM_001079843.1,NM_017766.3	58,58	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	1104/1760,1104/1167	10708045	2,12994	2200	4298	6498	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.3310G>A	1.37:g.10708045C>T	ENSP00000366221:p.Ala1104Thr		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1104T	ENST00000377022.3	37	c.3310	CCDS41246.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.343	0.248657	0.10130	2.27E-4	1.16E-4	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	5.62	-8.92	0.00774	.	0.731493	0.14470	N	0.317601	T	0.29423	0.0733	L	0.31294	0.92	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.002;0.001	T	0.06844	-1.0804	9	0.23302	T	0.38	0.5299	16.7818	0.85564	0.0901:0.6912:0.0:0.2187	.	1104;1104	Q86V15-2;Q86V15	.;CASZ1_HUMAN	T	1104	.	ENSP00000339445:A1104T	A	-	1	0	CASZ1	10630632	0.318000	0.24598	0.100000	0.21137	0.231000	0.25187	-0.204000	0.09425	-1.701000	0.01413	-1.267000	0.01435	GCT	CASZ1	-	NULL	ENSG00000130940		0.706	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0	64	0	C	NM_017766		10708045	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.056	T	T	10708045	C	T	10708045	3	4	8	1	0	0	0	0	1	0	0	0	2692	768	27	1	1997	1	CASZ1	1	10708045	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	9248699	10708045	238542576	2	2174											
UBR4	23352	genome.wustl.edu	37	chr1	19505602	19505602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgagcactggctttaTgttgccagatgagcaggagg	9	10	13	9	0	0	3	0	2	0	1	0	4	0	4	2	3	3	4	2	3	1	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:19505602T>C	ENST00000375254.3	-	18	2324	c.2297A>G	c.(2296-2298)cAt>cGt	p.H766R	UBR4_ENST00000375217.2_Missense_Mutation_p.H766R|UBR4_ENST00000375267.2_Missense_Mutation_p.H766R|UBR4_ENST00000375226.2_Missense_Mutation_p.H766R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	766					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACTGGCTTTATGTTGCCAGAT	0.502																																																	0													164	155	158					1																	19505602		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2297A>G	1.37:g.19505602T>C	ENSP00000364403:p.His766Arg		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.H766R	ENST00000375254.3	37	c.2297	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.611166	0.28712	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	N	0.04508	-0.205	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.10154	-1.0642	10	0.10111	T	0.7	.	12.9738	0.58527	0.0:0.0:0.0:1.0	.	766	Q5T4S7	UBR4_HUMAN	R	766	ENSP00000364403:H766R;ENSP00000364416:H766R;ENSP00000364365:H766R;ENSP00000364374:H766R	ENSP00000364365:H766R	H	-	2	0	UBR4	19378189	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.330000	0.79181	2.072000	0.62099	0.533000	0.62120	CAT	UBR4	-	NULL	ENSG00000127481		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	36	0	T	NM_020765		19505602	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	C	C	19505602	T	C	19505602	3	2	8	1	0	0	0	0	1	0	0	0	16953	1464	51	4	13610	4	UBR4	1	19505602	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	8797557	19505602	229745019	3	2175											
AIM1L	55057	genome.wustl.edu	37	chr1	26655271	26655271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatggttgttgaagccctCggcttgcaggctccgcacct	6	10	11	14	2	0	1	0	1	0	0	2	1	1	1	3	3	2	6	3	3	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:26655271C>T	ENST00000308182.5	-	15	1702	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	AIM1L_ENST00000527815.1_Missense_Mutation_p.E596K			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	425	Beta/gamma crystallin 'Greek key' 9. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)	p.E596K(1)|p.E425K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTGAAGCCCTCGGCTTGCAGG	0.602																																																	2	Substitution - Missense(2)	lung(2)											153	130	138					1																	26655271		2203	4300	6503	SO:0001583	missense	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1273G>A	1.37:g.26655271C>T	ENSP00000310435:p.Glu425Lys		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E596K	ENST00000308182.5	37	c.1786		1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586353	0.86851	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.74526	-0.85;-0.85	5.03	4.1	0.47936	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	L	0.28274	0.84	0.80722	D	1	P	0.50369	0.934	B	0.42361	0.385	T	0.59794	-0.7387	10	0.20046	T	0.44	.	15.0212	0.71632	0.0:0.8568:0.1432:0.0	.	425	Q8N1P7	AIM1L_HUMAN	K	596;425	ENSP00000433931:E596K;ENSP00000310435:E425K	ENSP00000310435:E425K	E	-	1	0	AIM1L	26527858	0.979000	0.34478	0.990000	0.47175	0.892000	0.51952	2.477000	0.45180	1.303000	0.44873	0.561000	0.74099	GAG	AIM1L	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin	ENSG00000176092		0.602	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		-	0	43	0	C	NM_001039775.2		26655271	-1	tier1	-	no_errors	ENST00000527815	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.998	T	T	26655271	C	T	26655271	3	4	8	1	0	0	0	0	1	0	0	0	431	893	31	1	597	1	AIM1L	1	26655271	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	7149669	26655271	222595350	4	2176											
SYTL1	84958	genome.wustl.edu	37	chr1	27678010	27678010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctcgggacctcctgcCgctgcgggcaggatccctgg	4	6	17	14	3	0	0	0	0	0	0	3	3	2	3	4	6	2	3	4	6	0	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:27678010C>T	ENST00000543823.1	+	12	1769	c.1307C>T	c.(1306-1308)cCg>cTg	p.P436L	SYTL1_ENST00000318074.5_Missense_Mutation_p.P424L|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	436	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GACCTCCTGCCGCTGCGGGCA	0.667																																																	0													10	9	9					1																	27678010		1903	3622	5525	SO:0001583	missense	0			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1307C>T	1.37:g.27678010C>T	ENSP00000440704:p.Pro436Leu		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.P436L	ENST00000543823.1	37	c.1307	CCDS53286.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267663|3.267663	0.59540|0.59540	.|.	.|.	ENSG00000142765|ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269|ENST00000496001	T;T|.	0.69926|.	-0.44;-0.44|.	5.03|5.03	5.03|5.03	0.67393|0.67393	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.173290|.	0.52532|.	D|.	0.000079|.	T|T	0.59824|0.59824	0.2222|0.2222	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	B;P;B|.	0.45212|.	0.374;0.853;0.324|.	B;B;B|.	0.43536|.	0.252;0.423;0.115|.	T|T	0.54860|0.54860	-0.8230|-0.8230	10|5	0.02654|.	T|.	1|.	-20.1081|-20.1081	17.2968|17.2968	0.87172|0.87172	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	436;436;424|.	A8KAH3;Q8IYJ3;Q8IYJ3-2|.	.;SYTL1_HUMAN;.|.	L|C	424;436;189|284	ENSP00000316464:P424L;ENSP00000440704:P436L|.	ENSP00000316464:P424L|.	P|R	+|+	2|1	0|0	SYTL1|SYTL1	27550597|27550597	0.165000|0.165000	0.22948|0.22948	0.155000|0.155000	0.22561|0.22561	0.009000|0.009000	0.06853|0.06853	2.036000|2.036000	0.41165|0.41165	2.610000|2.610000	0.88304|0.88304	0.563000|0.563000	0.77884|0.77884	CCG|CGC	SYTL1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000142765		0.667	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		-	0	106	0	C	NM_032872		27678010	1	tier1	-	no_errors	ENST00000543823	ensembl	human	known	74_37	missense	10.71	75	9	SNP	0.858	T	T	27678010	C	T	27678010	3	4	8	1	0	0	0	0	1	0	0	0	15529	652	23	1	1317	1	SYTL1	1	27678010	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	1022739	27678010	221572611	5	2177											
RCC1	1104	genome.wustl.edu	37	chr1	28864449	28864449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaacagctggagaaccGtgtggtcttatctgtgtcca	9	10	13	9	1	2	1	0	0	2	1	3	2	3	1	2	3	3	2	2	3	3	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:28864449G>A	ENST00000373833.6	+	13	1481	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	RCC1_ENST00000373832.1_Missense_Mutation_p.R399H|RCC1_ENST00000398958.2_Missense_Mutation_p.R399H|RCC1_ENST00000373831.3_Missense_Mutation_p.R430H			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	399					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGAACCGTGTGGTCTTA	0.572																																																	0													79	78	78					1																	28864449		2203	4300	6503	SO:0001583	missense	0			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"chromosome condensation 1"	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.1196G>A	1.37:g.28864449G>A	ENSP00000362939:p.Arg399His		Q16269|Q6NT97	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R430H	ENST00000373833.6	37	c.1289	CCDS323.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889380	0.72524	.	.	ENSG00000180198	ENST00000398958;ENST00000373833;ENST00000373832;ENST00000373831	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.17	5.17	0.71159	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	L	0.38649	1.16	0.80722	D	1	B;P;P	0.42649	0.337;0.786;0.658	B;B;B	0.35182	0.043;0.197;0.097	T	0.78780	-0.2070	10	0.33940	T	0.23	-6.2792	17.5978	0.88016	0.0:0.0:1.0:0.0	.	430;416;399	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	H	399;399;399;430	ENSP00000381931:R399H;ENSP00000362939:R399H;ENSP00000362938:R399H;ENSP00000362937:R430H	ENSP00000362937:R430H	R	+	2	0	RCC1	28737036	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	9.734000	0.98822	2.563000	0.86464	0.563000	0.77884	CGT	RCC1	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000180198		0.572	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RCC1	HGNC	protein_coding	OTTHUMT00000010323.3	-	0	55	0	G	NM_001269		28864449	1	tier1	-	no_errors	ENST00000373831	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	28864449	G	A	28864449	3	1	8	1	0	0	0	0	1	0	0	0	13218	1145	40	1	1327	1	RCC1	1	28864449	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	1186439	28864449	220386172	6	2178											
DNALI1	7802	genome.wustl.edu	37	chr1	38027201	38027203	+	In_Frame_Del	DEL	GCT	GCT	-																															atcaactgtgcggagaggggGctgctgctgctgcgagtccg																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:38027201_38027203delGCT	ENST00000296218.7	+	4	517_519	c.507_509delGCT	c.(505-510)gggctg>ggg	p.L173del	DNALI1_ENST00000541606.1_In_Frame_Del_p.L25del|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	151					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGAGAGGGGGCTGCTGCTGCTG	0.606											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001651	inframe_deletion	0			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.507_509delGCT	1.37:g.38027210_38027212delGCT	ENSP00000296218:p.Leu173del	875	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	In_Frame_Del	DEL	pfam_Axonemal_dynein_light_chain	p.L173in_frame_del	ENST00000296218.7	37	c.507_509	CCDS420.1	1																																																																																			DNALI1	-	pfam_Axonemal_dynein_light_chain	ENSG00000163879		0.606	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNALI1	HGNC	protein_coding	OTTHUMT00000012159.1		0	35	0	GCT	NM_003462		38027203	1	tier1		no_errors	ENST00000296218	ensembl	human	known	74_37	in_frame_del	6.06	31	2	DEL	0.797:1.000:1.000	-	-	38027203	GCT	-	38027201	7	5	8	1	0	1	0	1	0	0	0	0	4673	1190	42	0	521	0	DNALI1	1	38027201	In_Frame_Del	DEL	GCT	TCGA-2H-A9GM-01A-11D-A37C-09	9162752	38027201	211223420	7	2179											
ST6GALNAC5	81849	genome.wustl.edu	37	chr1	77515986	77515986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggctggtttacaatgAcaattgcactggagctctgt	9	12	11	9	0	1	1	0	1	1	0	1	2	1	2	0	3	3	5	0	3	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:77515986A>G	ENST00000477717.1	+	4	950	c.715A>G	c.(715-717)Aca>Gca	p.T239A		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	239					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GTTTACAATGACAATTGCACT	0.443																																																	0													166	165	166					1																	77515986		2203	4300	6503	SO:0001583	missense	0				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.715A>G	1.37:g.77515986A>G	ENSP00000417583:p.Thr239Ala		B1AK82	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.T239A	ENST00000477717.1	37	c.715	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028248	0.75390	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.31247	1.5	6.17	5.04	0.67666	.	0.092672	0.64402	D	0.000001	T	0.09686	0.0238	N	0.20574	0.59	0.46061	D	0.998842	B	0.12013	0.005	B	0.16289	0.015	T	0.04930	-1.0917	10	0.52906	T	0.07	-21.2937	10.6685	0.45745	0.731:0.0:0.0:0.269	.	239	Q9BVH7	SIA7E_HUMAN	A	239;149	ENSP00000417583:T239A	ENSP00000406658:T149A	T	+	1	0	ST6GALNAC5	77288574	1.000000	0.71417	0.911000	0.35937	0.985000	0.73830	3.069000	0.50026	1.124000	0.41980	0.533000	0.62120	ACA	ST6GALNAC5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000117069		0.443	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	HGNC	protein_coding	OTTHUMT00000026692.2		0	36	0	A	NM_030965		77515986	1			no_errors	ENST00000477717	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.996	G	G	77515986	A	G	77515986	3	3	8	1	0	0	0	0	1	0	0	0	15274	275	10	4	729	4	ST6GALNAC5	1	77515986	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	39488785	77515986	171734635	8	2180											
LPHN2	23266	genome.wustl.edu	37	chr1	82416057	82416057	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccacctataacaaatatTtttcccctgccagagagatt	13	13	4	11	0	0	2	0	0	0	2	2	3	2	2	5	0	2	0	5	0	4	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:82416057T>G	ENST00000370728.1	+	9	2028	c.1383T>G	c.(1381-1383)atT>atG	p.I461M	LPHN2_ENST00000370717.2_Missense_Mutation_p.I461M|LPHN2_ENST00000370713.1_Missense_Mutation_p.I461M|LPHN2_ENST00000359929.3_Missense_Mutation_p.I461M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.I461M|LPHN2_ENST00000335786.5_Missense_Mutation_p.I461M|LPHN2_ENST00000370725.1_Missense_Mutation_p.I461M|LPHN2_ENST00000394879.1_Missense_Mutation_p.I461M|LPHN2_ENST00000370723.1_Missense_Mutation_p.I461M|LPHN2_ENST00000370727.1_Missense_Mutation_p.I461M|LPHN2_ENST00000370730.1_Missense_Mutation_p.I461M|LPHN2_ENST00000319517.6_Missense_Mutation_p.I461M|LPHN2_ENST00000271029.4_Missense_Mutation_p.I461M			O95490	LPHN2_HUMAN	latrophilin 2	461					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAACAAATATTTTTCCCCTGC	0.473																																																	0													58	62	61					1																	82416057		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1383T>G	1.37:g.82416057T>G	ENSP00000359763:p.Ile461Met		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.I461M	ENST00000370728.1	37	c.1383		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.890|9.890	1.204076|1.204076	0.22205|0.22205	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.68903	.|-0.36;-0.35;-0.3;-0.3;-0.26;-0.32;-0.32;-0.32;-0.32;-0.3;-0.26;-0.3;-0.35	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.221644	.|0.41396	.|D	.|0.000883	T|T	0.28764|0.28764	0.0713|0.0713	N|N	0.08118|0.08118	0|0	0.34715|0.34715	D|D	0.728106|0.728106	.|B;B;B	.|0.28605	.|0.013;0.217;0.004	.|B;B;B	.|0.27715	.|0.005;0.082;0.003	T|T	0.25363|0.25363	-1.0134|-1.0134	5|10	.|0.32370	.|T	.|0.25	.|.	11.3916|11.3916	0.49817|0.49817	0.1349:0.0:0.0:0.8651|0.1349:0.0:0.0:0.8651	.|.	.|461;461;461	.|O95490-3;O95490-4;O95490-2	.|.;.;.	C|M	329|461	.|ENSP00000359763:I461M;ENSP00000359765:I461M;ENSP00000359762:I461M;ENSP00000359760:I461M;ENSP00000359758:I461M;ENSP00000353006:I461M;ENSP00000359750:I461M;ENSP00000359748:I461M;ENSP00000322270:I461M;ENSP00000359752:I461M;ENSP00000378344:I461M;ENSP00000271029:I461M;ENSP00000337306:I461M	.|ENSP00000271029:I461M	F|I	+|+	2|3	0|3	LPHN2|LPHN2	82188645|82188645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.360000|1.360000	0.34125|0.34125	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	TTT|ATT	LPHN2	-	NULL	ENSG00000117114		0.473	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	67	0	T	NM_012302		82416057	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	48.98	25	24	SNP	1.000	G	G	82416057	T	G	82416057	3	3	8	1	0	0	0	0	1	0	0	0	8951	1829	64	4	1401	4	LPHN2	1	82416057	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	4900071	82416057	166834564	9	2181											
CDC7	8317	genome.wustl.edu	37	chr1	91967309	91967309	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattcagatggatgagccAatggctttttctccccagcg	8	11	12	10	1	2	2	1	1	1	1	3	4	2	4	3	3	2	1	3	3	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:91967309A>G	ENST00000428239.1	+	2	295	c.36A>G	c.(34-36)ccA>ccG	p.P12P	CDC7_ENST00000234626.6_Silent_p.P12P|CDC7_ENST00000430031.2_Silent_p.P12P|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	12					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TGGATGAGCCAATGGCTTTTT	0.463											OREG0013599	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													150	157	155					1																	91967309		2203	4300	6503	SO:0001819	synonymous_variant	0			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.36A>G	1.37:g.91967309A>G		1286	D3DT31|O00558|Q5T5U5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P12	ENST00000428239.1	37	c.36	CCDS734.1	1																																																																																			CDC7	-	NULL	ENSG00000097046		0.463	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	-	0	69	0	A	NM_003503		91967309	1	tier1	-	no_errors	ENST00000234626	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.059	G	G	91967309	A	G	91967309	2	3	8	1	0	0	0	0	0	0	0	1	3091	117	5	4		4	CDC7	1	91967309	Silent	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	9551252	91967309	157283312	10	2182											
SV2A	9900	genome.wustl.edu	37	chr1	149879320	149879320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctggatgtgacatccTcaaaataacactcttcaaac	13	12	6	10	0	3	1	2	1	1	0	4	2	4	2	1	1	3	2	1	1	4	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:149879320T>C	ENST00000369146.3	-	10	2100	c.1610A>G	c.(1609-1611)gAg>gGg	p.E537G	SV2A_ENST00000369145.1_Missense_Mutation_p.E537G	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	537					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGTGACATCCTCAAAATAACA	0.502																																																	0													165	137	146					1																	149879320		2203	4300	6503	SO:0001583	missense	0			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1610A>G	1.37:g.149879320T>C	ENSP00000358142:p.Glu537Gly		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.E537G	ENST00000369146.3	37	c.1610	CCDS940.1	1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460894	0.84317	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.48522	0.81;0.81	4.72	4.72	0.59763	Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000002	T	0.58666	0.2138	M	0.85859	2.78	0.58432	D	0.999998	D	0.63880	0.993	D	0.68039	0.955	T	0.60806	-0.7190	10	0.24483	T	0.36	-22.4554	12.2071	0.54358	0.0:0.0:0.0:1.0	.	537	Q7L0J3	SV2A_HUMAN	G	537	ENSP00000358142:E537G;ENSP00000358141:E537G	ENSP00000358141:E537G	E	-	2	0	SV2A	148145944	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	7.819000	0.86621	2.002000	0.58637	0.374000	0.22700	GAG	SV2A	-	pfscan_MFS_dom,tigrfam_SV2	ENSG00000159164		0.502	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1	-	0	61	0	T			149879320	-1	tier1	-	no_errors	ENST00000369146	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	C	C	149879320	T	C	149879320	3	2	8	1	0	0	0	0	1	0	0	0	15464	1551	54	4	634	4	SV2A	1	149879320	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	57912011	149879320	99371301	11	2183											
INTS3	65123	genome.wustl.edu	37	chr1	153723688	153723688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgacagaaggaagtagaCttctgcatctcactgcttcg	10	10	10	11	2	2	2	1	0	2	2	4	4	2	3	0	1	3	3	0	1	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:153723688C>A	ENST00000318967.2	+	7	1270	c.702C>A	c.(700-702)gaC>gaA	p.D234E	RP11-216N14.9_ENST00000434575.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.D234E|INTS3_ENST00000512605.1_Missense_Mutation_p.D28E|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000456435.1_Missense_Mutation_p.D28E|snoU13_ENST00000458994.1_RNA|INTS3_ENST00000476843.1_3'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	235					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGTAGACTTCTGCATCT	0.542																																																	0													105	89	95					1																	153723688		2203	4300	6503	SO:0001583	missense	0			BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"sensor of single-strand DNA complex subunit A"	611347	"chromosome 1 open reading frame 60"	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.702C>A	1.37:g.153723688C>A	ENSP00000318641:p.Asp234Glu		A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Missense_Mutation	SNP	pfam_Int_cplx_su3	p.D234E	ENST00000318967.2	37	c.702	CCDS1052.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888574	0.52014	.	.	ENSG00000143624	ENST00000318967;ENST00000456435;ENST00000435409;ENST00000512605	.	.	.	4.95	3.03	0.35002	.	0.102468	0.64402	N	0.000004	T	0.11024	0.0269	N	0.12887	0.27	0.39682	D	0.970913	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.11421	-1.0588	9	0.16420	T	0.52	.	3.3658	0.07203	0.1785:0.5558:0.1729:0.0928	.	28;235;234	Q68E01-3;Q68E01;Q68E01-2	.;INT3_HUMAN;.	E	234;28;234;28	.	ENSP00000318641:D234E	D	+	3	2	INTS3	151990312	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.285000	0.33261	0.646000	0.30693	0.555000	0.69702	GAC	INTS3	-	NULL	ENSG00000143624		0.542	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS3	HGNC	protein_coding	OTTHUMT00000090045.2	-	0	41	0	C	NM_023015		153723688	1	tier1	-	no_errors	ENST00000318967	ensembl	human	known	74_37	missense	27.27	32	12	SNP	1.000	A	A	153723688	C	A	153723688	3	1	8	1	0	0	0	0	1	0	0	0	7806	564	20	3	728	3	INTS3	1	153723688	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	3844368	153723688	95526933	12	2184											
PAQR6	79957	genome.wustl.edu	37	chr1	156213678	156213679	+	3'UTR	DEL	CT	CT	-																															tggacacgcatgcatctcccCtctcagaccctcagcacttc																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:156213678_156213679delCT	ENST00000292291.5	-	0	1434_1435				PAQR6_ENST00000335852.1_Frame_Shift_Del_p.G344fs|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Frame_Shift_Del_p.G344fs|PAQR6_ENST00000368270.1_3'UTR	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					TGCATCTCCCCTCTCAGACCCT	0.589																																					GBM(16;219 398 12385 32425 38531)												0																																										SO:0001624	3_prime_UTR_variant	0			AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.*242AG>-	1.37:g.156213680_156213681delCT			B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Frame_Shift_Del	DEL	pfam_HlyIII-related	p.E345fs	ENST00000292291.5	37	c.1030_1029	CCDS1136.1	1																																																																																			PAQR6	-	NULL	ENSG00000160781		0.589	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAQR6	HGNC	protein_coding	OTTHUMT00000046297.2		0	91	0	CT	NM_024897		156213679	-1	tier1		no_errors	ENST00000335852	ensembl	human	known	74_37	frame_shift_del	54.05	34	40	DEL	0.387:0.383	-	-	156213679	CT	-	156213678	6	5	8	0	1	1	0	1	0	0	0	0	11478	681	24	0		0	PAQR6	1	156213678	3'UTR	DEL	CT	TCGA-2H-A9GM-01A-11D-A37C-09	2489990	156213678	93036943	13	2185											
FCRL2	79368	genome.wustl.edu	37	chr1	157737249	157737249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagcaggtcccccactgCagcctgggccccaggagacc	7	4	11	19	0	0	1	0	0	0	1	2	2	2	1	7	3	3	2	7	3	0	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:157737249C>T	ENST00000361516.3	-	6	982	c.934G>A	c.(934-936)Gca>Aca	p.A312T	FCRL2_ENST00000392274.3_Missense_Mutation_p.A312T|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Missense_Mutation_p.A59T	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	312	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCCCCACTGCAGCCTGGGCC	0.552																																																	0													48	52	51					1																	157737249		2203	4300	6503	SO:0001583	missense	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.934G>A	1.37:g.157737249C>T	ENSP00000355157:p.Ala312Thr		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A312T	ENST00000361516.3	37	c.934	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993125	0.35131	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.02737	4.18;4.18;4.18	3.99	-2.93	0.05598	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.361170	0.05387	N	0.538347	T	0.00580	0.0019	N	0.13272	0.32	0.09310	N	1	B;B;P	0.35139	0.271;0.12;0.486	B;B;B	0.38225	0.158;0.156;0.268	T	0.45131	-0.9282	10	0.14252	T	0.57	.	4.4426	0.11582	0.1677:0.3213:0.0:0.511	.	312;312;59	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	T	312;312;59	ENSP00000355157:A312T;ENSP00000376100:A312T;ENSP00000417393:A59T	ENSP00000355157:A312T	A	-	1	0	FCRL2	156003873	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.649000	0.00404	-0.472000	0.06881	0.591000	0.81541	GCA	FCRL2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000132704		0.552	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0	92	0	C	NM_030764		157737249	-1	tier1	-	no_errors	ENST00000361516	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T	T	157737249	C	T	157737249	3	4	8	1	0	0	0	0	1	0	0	0	5817	710	25	3	620	3	FCRL2	1	157737249	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	1523571	157737249	91513372	14	2186											
ASTN1	460	genome.wustl.edu	37	chr1	176903418	176903418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgaactggtccaacagCgccacaaaatctgcacgaga	13	6	9	13	3	1	1	0	0	1	1	2	3	2	1	3	1	5	1	3	1	4	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:176903418C>T	ENST00000367654.3	-	16	2776	c.2565G>A	c.(2563-2565)gcG>gcA	p.A855A	ASTN1_ENST00000361833.2_Silent_p.A847A|ASTN1_ENST00000367657.3_Silent_p.A847A|ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000424564.2_Silent_p.A847A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	855					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.A847A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTCCAACAGCGCCACAAAAT	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)											111	92	99					1																	176903418		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2565G>A	1.37:g.176903418C>T			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.A855	ENST00000367654.3	37	c.2565		1																																																																																			ASTN1	-	smart_MACPF	ENSG00000152092		0.542	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	40	0	C	NM_004319		176903418	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	47.62	22	20	SNP	0.149	T	T	176903418	C	T	176903418	2	4	8	1	0	0	0	0	0	0	0	1	1065	755	27	1		1	ASTN1	1	176903418	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	19166169	176903418	72347203	15	2187											
ASTN1	460	genome.wustl.edu	37	chr1	176918382	176918382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcgccatctgctggaGgcacagctgctcacagccgc	8	5	14	14	2	2	0	1	0	1	0	2	2	2	1	2	3	4	4	2	3	1	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:176918382G>T	ENST00000367654.3	-	12	2228	c.2017C>A	c.(2017-2019)Ctc>Atc	p.L673I	ASTN1_ENST00000361833.2_Missense_Mutation_p.L665I|ASTN1_ENST00000367657.3_Missense_Mutation_p.L665I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.L665I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	673	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ATCTGCTGGAGGCACAGCTGC	0.607											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68	66	67					1																	176918382		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2017C>A	1.37:g.176918382G>T	ENSP00000356626:p.Leu673Ile	1934	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.L673I	ENST00000367654.3	37	c.2017		1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911354	0.92178	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	N	0.12746	0.255	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.77557	0.99;0.986;0.986	D	0.97317	0.9941	10	0.62326	D	0.03	-25.3959	18.5626	0.91105	0.0:0.0:1.0:0.0	.	673;665;665	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	I	665;665;673;665;665	ENSP00000356629:L665I;ENSP00000354536:L665I;ENSP00000356626:L673I;ENSP00000395041:L665I	ENSP00000354536:L665I	L	-	1	0	ASTN1	175185005	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	9.689000	0.98673	2.480000	0.83734	0.655000	0.94253	CTC	ASTN1	-	smart_EG-like_dom	ENSG00000152092		0.607	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	43	0	G	NM_004319		176918382	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	T	T	176918382	G	T	176918382	3	4	8	1	0	0	0	0	1	0	0	0	1065	1000	35	3	1943	3	ASTN1	1	176918382	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	14964	176918382	72332239	16	2188											
HMCN1	83872	genome.wustl.edu	37	chr1	185878594	185878594	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaaagaggtcactgtGtctttgagtgggccttctcc	7	12	12	10	0	3	3	1	2	2	1	4	3	3	3	3	2	1	0	3	2	1	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:185878594G>T	ENST00000271588.4	+	5	976	c.747G>T	c.(745-747)gtG>gtT	p.V249V	HMCN1_ENST00000367492.2_Silent_p.V249V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	249					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCACTGTGTCTTTGAGTG	0.378																																																	0													114	106	109					1																	185878594		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.747G>T	1.37:g.185878594G>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V249	ENST00000271588.4	37	c.747	CCDS30956.1	1																																																																																			HMCN1	-	NULL	ENSG00000143341		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	81	0	G	NM_031935		185878594	1			no_errors	ENST00000271588	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	T	T	185878594	G	T	185878594	2	4	8	1	0	0	0	0	0	0	0	1	7247	1364	48	3		3	HMCN1	1	185878594	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	8960212	185878594	63372027	17	2189											
ADORA1	134	genome.wustl.edu	37	chr1	203134918	203134918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccattgtctatgccttcCgcatccagaagttccgcgtc	7	11	7	16	3	1	1	0	0	1	1	5	1	4	1	6	0	1	2	6	0	2	4	rs201703869		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:203134918C>T	ENST00000367236.4	+	3	1792	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.R291C|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R291C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	291					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CTATGCCTTCCGCATCCAGAA	0.562																																																	0													215	157	176					1																	203134918		2203	4300	6503	SO:0001583	missense	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.871C>T	1.37:g.203134918C>T	ENSP00000356205:p.Arg291Cys		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.R291C	ENST00000367236.4	37	c.871	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.090066	0.76756	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.40476	1.03;1.03;1.03	5.37	5.37	0.77165	.	0.047094	0.85682	D	0.000000	T	0.59985	0.2234	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.985;0.994	T	0.60326	-0.7285	10	0.54805	T	0.06	-38.2386	13.6736	0.62440	0.2832:0.7168:0.0:0.0	.	324;223;291	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	C	291	ENSP00000308549:R291C;ENSP00000356205:R291C;ENSP00000338435:R291C	ENSP00000308549:R291C	R	+	1	0	ADORA1	201401541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.955000	0.49121	2.505000	0.84491	0.655000	0.94253	CGC	ADORA1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn	ENSG00000163485		0.562	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	-	0	25	0	C	NM_000674		203134918	1	tier1	rs201703869	no_errors	ENST00000309502	ensembl	human	known	74_37	missense	65.62	11	21	SNP	1.000	T	T	203134918	C	T	203134918	3	4	8	1	0	0	0	0	1	0	0	0	326	652	23	1	877	1	ADORA1	1	203134918	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	17256324	203134918	46115703	18	2190											
IL20	50604	genome.wustl.edu	37	chr1	207041865	207041865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagttgtgaaggctttgGgggaactagacattcttctg	9	12	13	7	0	2	2	0	1	2	1	2	3	2	3	0	3	2	3	0	3	3	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:207041865G>T	ENST00000367098.1	+	6	850	c.487G>T	c.(487-489)Ggg>Tgg	p.G163W	IL20_ENST00000367096.3_Missense_Mutation_p.G163W|IL20_ENST00000391930.2_Missense_Mutation_p.G138W			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		GAAGGCTTTGGGGGAACTAGA	0.473																																																	0													105	93	97					1																	207041865		2203	4300	6503	SO:0001583	missense	0			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"Interleukins and interleukin receptors"	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.487G>T	1.37:g.207041865G>T	ENSP00000356065:p.Gly163Trp		Q14CE5	Missense_Mutation	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-20,prints_IL-24	p.G163W	ENST00000367098.1	37	c.487	CCDS1470.1	1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053982	0.55218	.	.	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.40225	1.04;1.04;1.04	4.55	3.59	0.41128	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.126300	0.53938	D	0.000046	T	0.44644	0.1303	M	0.70903	2.155	0.43902	D	0.996536	P;B	0.45634	0.863;0.439	P;B	0.44647	0.456;0.249	T	0.47983	-0.9074	10	0.87932	D	0	-7.1784	8.4984	0.33144	0.1183:0.0:0.8817:0.0	.	138;163	Q2THG6;Q9NYY1	.;IL20_HUMAN	W	163;163;138	ENSP00000356065:G163W;ENSP00000356063:G163W;ENSP00000375796:G138W	ENSP00000356063:G163W	G	+	1	0	IL20	205108488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.070000	0.57548	1.154000	0.42482	0.650000	0.86243	GGG	IL20	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-24	ENSG00000162891		0.473	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20	HGNC	protein_coding	OTTHUMT00000088676.1	-	0	75	0	G	NM_018724		207041865	1	tier1	-	no_errors	ENST00000367096	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	207041865	G	T	207041865	3	4	8	1	0	0	0	0	1	0	0	0	7694	1232	43	3	505	3	IL20	1	207041865	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	3906947	207041865	42208756	19	2191											
OBSCN	84033	genome.wustl.edu	37	chr1	228476017	228476017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacctcagcctcactcaCcatcaggcgtaagaccgtgt	10	7	10	14	2	4	1	4	0	0	1	4	3	4	2	4	2	1	1	4	2	1	1	rs527884891		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:228476017C>T	ENST00000422127.1	+	37	10111	c.10067C>T	c.(10066-10068)aCc>aTc	p.T3356I	OBSCN_ENST00000366707.4_Missense_Mutation_p.T475I|OBSCN_ENST00000366709.4_Missense_Mutation_p.T475I|OBSCN_ENST00000570156.2_Missense_Mutation_p.T3785I|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3356I|OBSCN_ENST00000359599.6_Missense_Mutation_p.T2203I	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3356	Ig-like 33.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTCACTCACCATCAGGCGT	0.577													C|||	1	0.000199681	0	0	5008	,	,		20880	0		0.001	False		,,,				2504	0																0													78	81	80					1																	228476017		2152	4249	6401	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10067C>T	1.37:g.228476017C>T	ENSP00000409493:p.Thr3356Ile		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T3356I	ENST00000422127.1	37	c.10067	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.955062	0.34471	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.9	2.89	0.33648	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100537	0.39687	N	0.001287	T	0.79281	0.4419	M	0.63169	1.94	0.09310	N	0.999996	D;D	0.69078	0.994;0.997	D;D	0.91635	0.999;0.968	T	0.67983	-0.5529	10	0.51188	T	0.08	.	10.2692	0.43473	0.2618:0.6094:0.1289:0.0	.	3356;3356	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	I	3356;3356;475;475;2203	ENSP00000284548:T3356I;ENSP00000409493:T3356I;ENSP00000355668:T475I;ENSP00000355670:T475I;ENSP00000352613:T2203I	ENSP00000284548:T3356I	T	+	2	0	OBSCN	226542640	0.000000	0.05858	0.124000	0.21820	0.012000	0.07955	-0.008000	0.12788	1.270000	0.44297	0.561000	0.74099	ACC	OBSCN	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000154358		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	49	0	C	NM_052843		228476017	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.092	T	T	228476017	C	T	228476017	3	4	8	1	0	0	0	0	1	0	0	0	10851	507	18	3	10209	3	OBSCN	1	228476017	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	21434152	228476017	20774604	20	2192											
NID1	4811	genome.wustl.edu	37	chr1	236144956	236144956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggattcaccaagtcaGtctcaaagagcacccggcgc	10	7	10	14	2	4	1	3	0	2	1	5	2	4	2	2	2	1	1	2	2	2	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr1:236144956G>A	ENST00000264187.6	-	16	3264	c.3182C>T	c.(3181-3183)aCt>aTt	p.T1061I	NID1_ENST00000366595.3_Missense_Mutation_p.T928I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1061					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CACCAAGTCAGTCTCAAAGAG	0.498																																																	0													91	90	90					1																	236144956		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3182C>T	1.37:g.236144956G>A	ENSP00000264187:p.Thr1061Ile		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.T1061I	ENST00000264187.6	37	c.3182	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737968	0.89573	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.95918	-3.85;-3.85	5.87	5.87	0.94306	Six-bladed beta-propeller, TolB-like (1);	0.139173	0.64402	D	0.000004	D	0.98153	0.9390	M	0.89095	3.005	0.38593	D	0.950463	D;D	0.76494	0.999;0.999	D;D	0.74674	0.946;0.984	D	0.99793	1.1032	10	0.72032	D	0.01	.	20.207	0.98280	0.0:0.0:1.0:0.0	.	928;1061	P14543-2;P14543	.;NID1_HUMAN	I	1061;928	ENSP00000264187:T1061I;ENSP00000355554:T928I	ENSP00000264187:T1061I	T	-	2	0	NID1	234211579	1.000000	0.71417	0.790000	0.31976	0.587000	0.36485	4.691000	0.61738	2.765000	0.95021	0.650000	0.86243	ACT	NID1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000116962		0.498	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0	34	0	G	NM_002508		236144956	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	32.14	38	18	SNP	1.000	A	A	236144956	G	A	236144956	3	1	8	1	0	0	0	0	1	0	0	0	10453	1029	36	3	581	3	NID1	1	236144956	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	7668939	236144956	13105665	21	2193											
FAM179A	165186	genome.wustl.edu	37	chr2	29222063	29222063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttctctccagcctgaGccaagagccctgctgaacaa	10	8	9	14	0	2	3	1	2	1	1	4	3	3	3	4	1	5	2	4	1	3	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:29222063G>T	ENST00000379558.4	+	4	507	c.156G>T	c.(154-156)gaG>gaT	p.E52D	FAM179A_ENST00000403861.2_Missense_Mutation_p.E52D	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	52										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCAGCCTGAGCCAAGAGCCC	0.622																																																	0													36	39	38					2																	29222063		2122	4232	6354	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.156G>T	2.37:g.29222063G>T	ENSP00000368876:p.Glu52Asp		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.E52D	ENST00000379558.4	37	c.156	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714534	0.30413	.	.	ENSG00000189350	ENST00000420297;ENST00000379558;ENST00000403861	T;T;T	0.44881	0.91;3.07;2.89	5.51	-0.871	0.10642	.	.	.	.	.	T	0.21145	0.0509	N	0.14661	0.345	0.09310	N	1	B;B	0.18310	0.027;0.016	B;B	0.23018	0.043;0.019	T	0.21245	-1.0251	9	0.27785	T	0.31	.	3.9533	0.09379	0.2666:0.0:0.4617:0.2717	.	52;52	F8W8E4;Q6ZUX3	.;F179A_HUMAN	D	52	ENSP00000402415:E52D;ENSP00000368876:E52D;ENSP00000384699:E52D	ENSP00000368876:E52D	E	+	3	2	FAM179A	29075567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.348000	0.07740	-0.521000	0.06426	-0.362000	0.07510	GAG	FAM179A	-	NULL	ENSG00000189350		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0	47	0	G	NM_199280		29222063	1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.000	T	T	29222063	G	T	29222063	3	4	8	1	0	0	0	0	1	0	0	0	5524	962	34	3	166	3	FAM179A	2	29222063	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		29222063	213977310	22	2194											
SRBD1	55133	genome.wustl.edu	37	chr2	45826866	45826866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtccttcgaactgtatgtgGctgcgctgcacatttctgtt	6	15	10	10	2	1	0	0	0	1	0	3	1	2	0	1	1	3	5	1	1	2	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:45826866G>A	ENST00000263736.4	-	4	432	c.370C>T	c.(370-372)Cca>Tca	p.P124S		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	124					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTGTATGTGGCTGCGCTGCA	0.413																																																	0													287	263	271					2																	45826866		2203	4300	6503	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.370C>T	2.37:g.45826866G>A	ENSP00000263736:p.Pro124Ser		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.P124S	ENST00000263736.4	37	c.370	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.198463	0.00299	.	.	ENSG00000068784	ENST00000263736	T	0.21031	2.03	3.91	-0.658	0.11428	.	2.401150	0.02076	N	0.051984	T	0.08268	0.0206	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18209	-1.0344	10	0.22706	T	0.39	.	0.5811	0.00712	0.2932:0.3208:0.1358:0.2502	.	124	Q8N5C6	SRBD1_HUMAN	S	124	ENSP00000263736:P124S	ENSP00000263736:P124S	P	-	1	0	SRBD1	45680370	0.095000	0.21747	0.955000	0.39395	0.014000	0.08584	0.822000	0.27352	-0.004000	0.14419	-0.482000	0.04802	CCA	SRBD1	-	NULL	ENSG00000068784		0.413	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	-	0	47	0	G	NM_018079		45826866	-1	tier1	-	no_errors	ENST00000263736	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.004	A	A	45826866	G	A	45826866	3	1	8	1	0	0	0	0	1	0	0	0	15180	1203	42	3	2689	3	SRBD1	2	45826866	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	16604803	45826866	197372507	23	2195											
PNO1	56902	genome.wustl.edu	37	chr2	68389786	68389786	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggacaaggatagtttTggctgatgtgtaagtatctg	11	12	13	5	1	1	1	0	1	1	0	1	4	1	3	0	3	0	4	0	3	4	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:68389786T>A	ENST00000263657.2	+	5	702	c.611T>A	c.(610-612)tTg>tAg	p.L204*	RP11-474G23.1_ENST00000406334.3_Intron	NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	204	KH.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						AGGATAGTTTTGGCTGATGTG	0.343																																					NSCLC(83;642 1410 13044 32832 40058)												0													105	105	105					2																	68389786		2203	4300	6503	SO:0001587	stop_gained	0			AF164799	CCDS1885.1	2p14	2010-07-06			ENSG00000115946	ENSG00000115946			32790	protein-coding gene	gene with protein product	"RNA binding protein"		"KH-type RNA binding protein 1", "KH-type RNA-binding protein 1"	KHRBP1		15497447	Standard	NM_020143		Approved	RRP20	uc002seh.3	Q9NRX1	OTTHUMG00000129563	ENST00000263657.2:c.611T>A	2.37:g.68389786T>A	ENSP00000263657:p.Leu204*		A8K6Q0|Q53G13|Q8WVB8	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.L204*	ENST00000263657.2	37	c.611	CCDS1885.1	2	.	.	.	.	.	.	.	.	.	.	T	36	5.839725	0.97009	.	.	ENSG00000115946	ENST00000263657	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.318	15.8223	0.78667	0.0:0.0:0.0:1.0	.	.	.	.	X	204	.	ENSP00000263657:L204X	L	+	2	0	PNO1	68243290	1.000000	0.71417	0.943000	0.38184	0.995000	0.86356	7.799000	0.85936	2.188000	0.69820	0.528000	0.53228	TTG	PNO1	-	pfam_KH_dom_type_1,smart_KH_dom	ENSG00000115946		0.343	PNO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNO1	HGNC	protein_coding	OTTHUMT00000251756.1		0	88	0	T	NM_020143		68389786	1			no_errors	ENST00000263657	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	1.000	A	A	68389786	T	A	68389786	4	1	8	1	0	0	0	0	0	1	0	0	12200	1821	63	5	629	5	PNO1	2	68389786	Nonsense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	22562920	68389786	174809587	24	2196											
TET3	200424	genome.wustl.edu	37	chr2	74327581	74327581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccctcaaggtggagccGcagaaccacttcagctcctt	8	8	8	17	1	2	1	2	0	0	1	4	2	4	2	5	2	3	2	5	2	2	2	rs143683162	byFrequency	TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:74327581G>A	ENST00000409262.3	+	9	3261	c.3261G>A	c.(3259-3261)ccG>ccA	p.P1087P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1087					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGTGGAGCCGCAGAACCACT	0.602																																																	0													46	53	51					2																	74327581		2076	4203	6279	SO:0001819	synonymous_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3261G>A	2.37:g.74327581G>A			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.P1087	ENST00000409262.3	37	c.3261	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0	44	0	G			74327581	1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.041	A	A	74327581	G	A	74327581	2	1	8	1	0	0	0	0	0	0	0	1	15818	1074	38	1		1	TET3	2	74327581	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	5937795	74327581	168871792	25	2197											
FAM176A	84141	genome.wustl.edu	37	chr2	75720457	75720457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcgctcctccagccgctGggcgcgctccagctcctccg	2	7	11	21	6	0	0	0	0	0	0	6	0	5	0	6	1	2	4	6	1	0	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:75720457G>T	ENST00000233712.1	-	4	801	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	EVA1A_ENST00000410010.1_Missense_Mutation_p.Q110K|EVA1A_ENST00000410113.1_Missense_Mutation_p.Q122K|EVA1A_ENST00000393913.3_Missense_Mutation_p.Q122K|EVA1A_ENST00000410071.1_Missense_Mutation_p.Q122K|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	122					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											TCCAGCCGCTGGGCGCGCTCC	0.617																																																	0													42	45	44					2																	75720457		2203	4300	6503	SO:0001583	missense	0			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.364C>A	2.37:g.75720457G>T	ENSP00000233712:p.Gln122Lys		D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.Q122K	ENST00000233712.1	37	c.364	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.104752	0.94245	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.68467	0.3004	M	0.84846	2.72	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.73170	-0.4067	10	0.66056	D	0.02	0.685	16.7196	0.85407	0.0:0.0:1.0:0.0	.	122	Q9H8M9	F176A_HUMAN	K	122;122;122;110;122;122	ENSP00000377490:Q122K;ENSP00000233712:Q122K;ENSP00000386435:Q122K;ENSP00000386835:Q110K;ENSP00000386930:Q122K;ENSP00000398249:Q122K	ENSP00000233712:Q122K	Q	-	1	0	FAM176A	75573965	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.751000	0.98889	2.722000	0.93159	0.655000	0.94253	CAG	EVA1A	-	NULL	ENSG00000115363		0.617	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	-	0	43	0	G	NM_032181		75720457	-1	tier1	-	no_errors	ENST00000233712	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	T	T	75720457	G	T	75720457	3	4	8	1	0	0	0	0	1	0	0	0	5518	1357	47	3	98	3	FAM176A	2	75720457	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	1392876	75720457	167478916	26	2198											
THNSL2	55258	genome.wustl.edu	37	chr2	88474188	88474188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagccttcagcagattccGtcacagagaagtggtccatc	10	8	10	13	2	2	2	2	0	0	2	5	4	4	2	4	1	2	1	4	1	1	2	rs376220295		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:88474188G>T	ENST00000324166.5	+	2	1945	c.254G>T	c.(253-255)cGt>cTt	p.R85L	THNSL2_ENST00000449349.1_Missense_Mutation_p.R53L|THNSL2_ENST00000377254.3_Missense_Mutation_p.R85L|THNSL2_ENST00000402102.1_Missense_Mutation_p.R85L|THNSL2_ENST00000358591.2_Missense_Mutation_p.R85L|THNSL2_ENST00000343544.4_Missense_Mutation_p.R85L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	85					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCAGATTCCGTCACAGAGAA	0.542																																																	0													180	143	156					2																	88474188		2203	4300	6503	SO:0001583	missense	0				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.254G>T	2.37:g.88474188G>T	ENSP00000327323:p.Arg85Leu		B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.R85L	ENST00000324166.5	37	c.254	CCDS2002.2	2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203121	0.58234	.	.	ENSG00000144115	ENST00000358591;ENST00000377254;ENST00000402102;ENST00000419759;ENST00000449349;ENST00000343544;ENST00000324166	T;T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97;2.97	5.79	4.0	0.46444	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (1);	0.179497	0.48286	D	0.000199	T	0.14830	0.0358	M	0.77486	2.375	0.37229	D	0.905607	B;B;B	0.30361	0.277;0.277;0.232	B;B;B	0.22601	0.04;0.024;0.039	T	0.04115	-1.0976	10	0.59425	D	0.04	.	11.6803	0.51453	0.1427:0.0:0.8573:0.0	.	85;53;85	Q86YJ6;C9JU10;Q86YJ6-2	THNS2_HUMAN;.;.	L	85;85;85;85;53;85;85	ENSP00000351402:R85L;ENSP00000366464:R85L;ENSP00000384475:R85L;ENSP00000391300:R85L;ENSP00000407553:R53L;ENSP00000339563:R85L;ENSP00000327323:R85L	ENSP00000327323:R85L	R	+	2	0	THNSL2	88255303	1.000000	0.71417	0.814000	0.32528	0.896000	0.52359	3.267000	0.51577	0.798000	0.33994	-0.291000	0.09656	CGT	THNSL2	-	superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000144115		0.542	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	-	0	71	0	G	NM_018271		88474188	1	tier1	-	no_errors	ENST00000324166	ensembl	human	known	74_37	missense	7.25	64	5	SNP	0.987	T	T	88474188	G	T	88474188	3	4	8	1	0	0	0	0	1	0	0	0	15910	1145	40	2	260	2	THNSL2	2	88474188	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	12753731	88474188	154725185	27	2199											
RGPD4	285190	genome.wustl.edu	37	chr2	108488228	108488228	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataactgtgatttaagggaAgatgctttggatgatagtgt	12	14	13	2	0	0	3	0	2	0	1	0	6	0	5	0	2	2	1	0	2	4	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:108488228A>C	ENST00000408999.3	+	20	3845	c.3768A>C	c.(3766-3768)gaA>gaC	p.E1256D	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1256D	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1256					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTTAAGGGAAGATGCTTTGG	0.443																																																	0													123	95	103					2																	108488228		692	1591	2283	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3768A>C	2.37:g.108488228A>C	ENSP00000386810:p.Glu1256Asp		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1256D	ENST00000408999.3	37	c.3768	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	6.003	0.369036	0.11352	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.42900	0.96;0.97	2.33	-3.66	0.04489	.	.	.	.	.	T	0.21062	0.0507	N	0.17082	0.46	0.23862	N	0.996637	B	0.27450	0.179	B	0.22386	0.039	T	0.21109	-1.0255	9	0.21540	T	0.41	-35.2081	8.5477	0.33433	0.5526:0.0:0.4474:0.0	.	1256	Q7Z3J3	RGPD4_HUMAN	D	1256	ENSP00000347081:E1256D;ENSP00000386810:E1256D	ENSP00000347081:E1256D	E	+	3	2	RGPD4	107854660	0.998000	0.40836	0.958000	0.39756	0.292000	0.27327	0.832000	0.27490	-0.763000	0.04658	0.136000	0.15936	GAA	RGPD4	-	NULL	ENSG00000196862		0.443	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0	197	0	A	XM_496581		108488228	1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	35.44	133	73	SNP	0.994	C	C	108488228	A	C	108488228	3	2	8	1	0	0	0	0	1	0	0	0	13333	69	3	4	3846	4	RGPD4	2	108488228	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	20014040	108488228	134711145	28	2200											
RIF1	55183	genome.wustl.edu	37	chr2	152326341	152326341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgttctccaaaagtgtccaAtgtaaaaaaggctctcagaa	15	9	7	10	1	2	1	1	0	2	1	5	1	3	1	3	1	0	3	3	1	7	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:152326341A>T	ENST00000243326.5	+	33	7541	c.7058A>T	c.(7057-7059)aAt>aTt	p.N2353I	RIF1_ENST00000453091.2_Missense_Mutation_p.N2327I|RIF1_ENST00000428287.2_Missense_Mutation_p.N2327I|RIF1_ENST00000444746.2_Missense_Mutation_p.N2353I|RIF1_ENST00000430328.2_Missense_Mutation_p.N2327I			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAGTGTCCAATGTAAAAAAG	0.318																																																	0													67	71	69					2																	152326341		2203	4299	6502	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.7058A>T	2.37:g.152326341A>T	ENSP00000243326:p.Asn2353Ile		A0AVS0|Q9NS16	Missense_Mutation	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.N2353I	ENST00000243326.5	37	c.7058	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839293	0.71373	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.43	4.28	0.50868	.	0.133040	0.64402	D	0.000002	T	0.27419	0.0673	L	0.53249	1.67	0.80722	D	1	D;D	0.60575	0.979;0.988	D;D	0.69142	0.916;0.962	T	0.01397	-1.1365	10	0.87932	D	0	-19.0201	7.2327	0.26051	0.7796:0.1456:0.0748:0.0	.	2353;2327	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	I	2353;2327;2327;2353;2327	ENSP00000390181:N2353I;ENSP00000414615:N2327I;ENSP00000415691:N2327I;ENSP00000243326:N2353I;ENSP00000416123:N2327I	ENSP00000243326:N2353I	N	+	2	0	RIF1	152034587	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.478000	0.60230	1.004000	0.39156	0.454000	0.30748	AAT	RIF1	-	NULL	ENSG00000080345		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3		0	48	0	A			152326341	1			no_errors	ENST00000243326	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	152326341	A	T	152326341	3	4	8	1	0	0	0	0	1	0	0	0	13404	101	4	5	7188	5	RIF1	2	152326341	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	43838113	152326341	90873032	29	2201											
CYTIP	9595	genome.wustl.edu	37	chr2	158300475	158300475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctatacgctggcccagCgcagaagtccgccaaattgc	11	6	11	13	3	0	2	0	0	0	2	1	2	1	2	3	1	4	3	3	1	4	3	rs200094703		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:158300475C>T	ENST00000264192.3	-	1	179	c.58G>A	c.(58-60)Gct>Act	p.A20T	CYTIP_ENST00000540637.1_Intron|AC019201.1_ENST00000401235.1_RNA|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	20					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GCTGGCCCAGCGCAGAAGTCC	0.507																																																	0													160	149	153					2																	158300475		2203	4300	6503	SO:0001583	missense	0			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"cytohesin binding protein HE", "cytohesin binder and regulator"	604448	"pleckstrin homology, Sec7 and coiled-coil domains, binding protein"	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.58G>A	2.37:g.158300475C>T	ENSP00000264192:p.Ala20Thr		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A20T	ENST00000264192.3	37	c.58	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	C	6.584	0.476115	0.12521	.	.	ENSG00000115165	ENST00000264192	T	0.17691	2.26	5.72	-7.48	0.01360	.	1.291780	0.04953	N	0.460646	T	0.08223	0.0205	N	0.24115	0.695	0.09310	N	0.999995	B	0.06786	0.001	B	0.04013	0.001	T	0.30679	-0.9970	10	0.36615	T	0.2	1.107	1.6025	0.02677	0.2044:0.1346:0.2019:0.4591	.	20	O60759	CYTIP_HUMAN	T	20	ENSP00000264192:A20T	ENSP00000264192:A20T	A	-	1	0	CYTIP	158008721	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.306000	0.02735	-1.125000	0.02932	-0.136000	0.14681	GCT	CYTIP	-	NULL	ENSG00000115165		0.507	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	-	0	52	0	C	NM_004288		158300475	-1	tier1	rs200094703	no_errors	ENST00000264192	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	T	T	158300475	C	T	158300475	3	4	8	1	0	0	0	0	1	0	0	0	4216	768	27	1	1053	1	CYTIP	2	158300475	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	5974134	158300475	84898898	30	2202											
TTC21B	79809	genome.wustl.edu	37	chr2	166771920	166771920	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttccagaaaattcatggatGgcatcttgtaaaactttggt	12	14	9	6	0	2	1	1	0	1	1	3	2	3	2	1	3	1	3	1	3	4	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:166771920G>T	ENST00000243344.7	-	15	2066	c.1929C>A	c.(1927-1929)gcC>gcA	p.A643A		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	643					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ATTCATGGATGGCATCTTGTA	0.383																																																	0													173	176	175					2																	166771920		2203	4300	6503	SO:0001819	synonymous_variant	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1929C>A	2.37:g.166771920G>T			A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A643	ENST00000243344.7	37	c.1929	CCDS33315.1	2																																																																																			TTC21B	-	NULL	ENSG00000123607		0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1		0	58	0	G	NM_024753		166771920	-1			no_errors	ENST00000243344	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	T	T	166771920	G	T	166771920	2	4	8	1	0	0	0	0	0	0	0	1	16737	1335	47	3		3	TTC21B	2	166771920	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	8471445	166771920	76427453	31	2203											
SCN7A	6332	genome.wustl.edu	37	chr2	167334116	167334116	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttcttcatggtcttCattatgtgttttagcaatat	7	21	6	7	0	6	0	2	0	4	0	6	0	6	0	0	1	1	2	0	1	4	8			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:167334116C>A	ENST00000409855.1	-	2	217	c.91G>T	c.(91-93)Gaa>Taa	p.E31*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	31					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCATGGTCTTCATTATGTGTT	0.368																																																	0													68	62	64					2																	167334116		1825	4077	5902	SO:0001587	stop_gained	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.91G>T	2.37:g.167334116C>A	ENSP00000386796:p.Glu31*			Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.E31*	ENST00000409855.1	37	c.91	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878254	0.72294	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	.	.	.	4.63	4.63	0.57726	.	0.932660	0.08905	N	0.876671	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0238	0.86440	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000259060:E31X	E	-	1	0	SCN7A	167042362	0.005000	0.15991	0.820000	0.32676	0.216000	0.24613	0.773000	0.26661	2.556000	0.86216	0.655000	0.94253	GAA	SCN7A	-	NULL	ENSG00000136546		0.368	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	43	0	C			167334116	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	nonsense	14.81	46	8	SNP	0.974	A	A	167334116	C	A	167334116	4	1	8	1	0	0	0	0	0	1	0	0	13968	835	29	3	5053	3	SCN7A	2	167334116	Nonsense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	562196	167334116	75865257	32	2204											
LRP2	4036	genome.wustl.edu	37	chr2	170094672	170094672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatcagaccaaaagatacGaccactaattgaatcaaaat	19	8	5	9	1	2	3	2	1	0	2	2	4	2	3	2	0	2	1	2	0	7	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:170094672G>A	ENST00000263816.3	-	27	4720	c.4435C>T	c.(4435-4437)Cgt>Tgt	p.R1479C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1479					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CAAAAGATACGACCACTAATT	0.418																																																	0													126	109	115					2																	170094672		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4435C>T	2.37:g.170094672G>A	ENSP00000263816:p.Arg1479Cys		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R1479C	ENST00000263816.3	37	c.4435	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470780	0.84533	.	.	ENSG00000081479	ENST00000263816	D	0.91996	-2.95	5.39	5.39	0.77823	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96477	0.9353	10	0.52906	T	0.07	.	14.8292	0.70135	0.0:0.0:0.8555:0.1445	.	1479	P98164	LRP2_HUMAN	C	1479	ENSP00000263816:R1479C	ENSP00000263816:R1479C	R	-	1	0	LRP2	169802918	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	6.097000	0.71452	2.526000	0.85167	0.655000	0.94253	CGT	LRP2	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	62	0	G	NM_004525		170094672	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	26.87	49	18	SNP	1.000	A	A	170094672	G	A	170094672	3	1	8	1	0	0	0	0	1	0	0	0	8991	1058	37	1	9744	1	LRP2	2	170094672	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	2760556	170094672	73104701	33	2205											
CIR1	9541	genome.wustl.edu	37	chr2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T																															ctttcttttcttcctttgtaINStttttttttctttattgtta																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																																	0																																										SO:0001589	frameshift_variant	0			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"recepin", "CBF1 interacting corepressor"	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	pfam_CIR_N_dom,superfamily_Znf_CCHC	p.I289fs	ENST00000342016.3	37	c.866_865	CCDS2256.1	2																																																																																			CIR1	-	NULL	ENSG00000138433		0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIR1	HGNC	protein_coding	OTTHUMT00000255460.1		0	28	0	-	NM_004882		175213713	-1	tier1		no_errors	ENST00000342016	ensembl	human	known	74_37	frame_shift_ins	14.81	23	4	INS	0.109:0.130	T	T	175213713	-	T	175213712	7	5	8	1	0	1	1	0	0	0	0	0	3439	449	16	0	490	0	CIR1	2	175213712	Frame_Shift_Ins	INS	-	TCGA-2H-A9GM-01A-11D-A37C-09	5119040	175213712	67985661	34	2206											
FSIP2	401024	genome.wustl.edu	37	chr2	186672616	186672616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagcttttatctatatttCcaaaagtacataaagaaaga	19	12	4	6	0	1	2	0	0	1	2	2	2	2	2	1	0	2	2	1	0	10	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:186672616C>A	ENST00000424728.1	+	17	18583	c.18583C>A	c.(18583-18585)Cca>Aca	p.P6195T	FSIP2_ENST00000343098.5_Missense_Mutation_p.P6284T			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6195										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATCTATATTTCCAAAAGTACA	0.294																																																	0													27	24	25					2																	186672616		1785	4049	5834	SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18583C>A	2.37:g.186672616C>A	ENSP00000401306:p.Pro6195Thr		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.P6284T	ENST00000424728.1	37	c.18850		2	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159913	0.38119	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.70282	-0.47;-0.46	4.96	4.96	0.65561	.	0.000000	0.52532	D	0.000061	T	0.72293	0.3442	L	0.52011	1.625	0.32840	D	0.505191	.	.	.	.	.	.	T	0.76788	-0.2830	8	0.31617	T	0.26	.	13.5718	0.61851	0.0:1.0:0.0:0.0	.	.	.	.	T	6284;6195	ENSP00000344403:P6284T;ENSP00000401306:P6195T	ENSP00000344403:P6284T	P	+	1	0	FSIP2	186380861	1.000000	0.71417	0.940000	0.37924	0.426000	0.31534	2.363000	0.44178	2.580000	0.87095	0.484000	0.47621	CCA	FSIP2	-	NULL	ENSG00000188738		0.294	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	98	0	C	NM_173651		186672616	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.933	A	A	186672616	C	A	186672616	3	1	8	1	0	0	0	0	1	0	0	0	6099	855	30	3	18916	3	FSIP2	2	186672616	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	11458904	186672616	56526757	35	2207											
GLS	2744	genome.wustl.edu	37	chr2	191792160	191792160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaaatacattgagtttGatgcattcctgtggcatgta	10	15	10	6	1	0	2	0	2	0	0	2	3	1	2	1	1	2	5	1	1	3	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:191792160G>T	ENST00000320717.3	+	12	1635	c.1377G>T	c.(1375-1377)ttG>ttT	p.L459F	GLS_ENST00000409626.1_Missense_Mutation_p.L30F|GLS_ENST00000409428.1_5'Flank|GLS_ENST00000338435.4_Missense_Mutation_p.L459F|GLS_ENST00000409215.1_5'Flank	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	459					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	CATTGAGTTTGATGCATTCCT	0.438																																																	0													164	157	159					2																	191792160		2203	4300	6503	SO:0001583	missense	0			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1377G>T	2.37:g.191792160G>T	ENSP00000317379:p.Leu459Phe		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.L459F	ENST00000320717.3	37	c.1377	CCDS2308.1	2	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727388	0.69074	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.62	-1.06	0.10002	Beta-lactamase/transpeptidase-like (1);	0.000000	0.64402	D	0.000001	T	0.64227	0.2579	M	0.86097	2.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.996;0.998;0.993	T	0.63111	-0.6710	10	0.87932	D	0	-11.8464	6.659	0.23004	0.3659:0.2044:0.4297:0.0	.	30;459;113;459;459	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	F	459;459;30;30	ENSP00000317379:L459F;ENSP00000340689:L459F;ENSP00000386417:L30F;ENSP00000395596:L30F	ENSP00000317379:L459F	L	+	3	2	GLS	191500405	0.992000	0.36948	0.992000	0.48379	0.993000	0.82548	0.311000	0.19380	-0.109000	0.12044	0.650000	0.86243	TTG	GLS	-	pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase	ENSG00000115419		0.438	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	-	0	95	0	G			191792160	1	tier1	-	no_errors	ENST00000320717	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.961	T	T	191792160	G	T	191792160	3	4	8	1	0	0	0	0	1	0	0	0	6489	1281	45	3	1423	3	GLS	2	191792160	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	5119544	191792160	51407213	36	2208											
DNAH7	56171	genome.wustl.edu	37	chr2	196765009	196765009	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattgtgttctctaccttCagattcccagcagcagtaag	11	13	7	10	0	2	1	1	0	1	1	4	1	3	1	2	0	3	4	2	0	4	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:196765009C>A	ENST00000312428.6	-	28	4645	c.4545G>T	c.(4543-4545)ctG>ctT	p.L1515L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1515					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTCTACCTTCAGATTCCCAG	0.408																																																	0													129	125	126					2																	196765009		1913	4138	6051	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4545G>T	2.37:g.196765009C>A			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L1515	ENST00000312428.6	37	c.4545	CCDS42794.1	2																																																																																			DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.408	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	70	0	C	NM_018897		196765009	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	39.62	32	21	SNP	0.530	A	A	196765009	C	A	196765009	2	1	8	1	0	0	0	0	0	0	0	1	4620	813	29	3		3	DNAH7	2	196765009	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4972849	196765009	46434364	37	2209											
MARS2	92935	genome.wustl.edu	37	chr2	198571905	198571905	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctggtgaaagcccaccgGacctagaaactcagttctta	11	9	10	11	1	2	2	1	1	1	1	2	3	2	3	3	3	2	2	3	3	4	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:198571905G>T	ENST00000282276.6	+	1	1819	c.1776G>T	c.(1774-1776)cgG>cgT	p.R592R	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	592					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AAGCCCACCGGACCTAGAAAC	0.423																																																	0													56	58	57					2																	198571905		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1776G>T	2.37:g.198571905G>T			A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.R592	ENST00000282276.6	37	c.1776	CCDS33358.1	2																																																																																			MARS2	-	NULL	ENSG00000247626		0.423	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	HGNC	protein_coding	OTTHUMT00000335477.1	-	0	49	0	G	NM_138395		198571905	1	tier1	-	no_errors	ENST00000282276	ensembl	human	known	74_37	silent	32.61	31	15	SNP	0.913	T	T	198571905	G	T	198571905	2	4	8	1	0	0	0	0	0	0	0	1	9355	1161	41	3		3	MARS2	2	198571905	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	1806896	198571905	44627468	38	2210											
PPIL3	53938	genome.wustl.edu	37	chr2	201750486	201750486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctacatctgtatgcaGtgtcacagactaaaaaggag	15	9	8	9	0	3	1	2	0	1	1	3	2	3	2	1	1	2	2	1	1	5	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:201750486G>T	ENST00000392283.4	-	3	281	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	PPIL3_ENST00000286175.8_Missense_Mutation_p.L5M|PPIL3_ENST00000409449.1_Missense_Mutation_p.L5M|PPIL3_ENST00000465823.1_5'UTR|PPIL3_ENST00000409361.1_Missense_Mutation_p.L5M	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3	5	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						TCTGTATGCAGTGTCACAGAC	0.323																																																	0													111	103	106					2																	201750486		2203	4299	6502	SO:0001583	missense	0			AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"Cyclophilin J"	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.13C>A	2.37:g.201750486G>T	ENSP00000376107:p.Leu5Met		Q86WF9|Q96IA9|Q9BXZ1	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.L5M	ENST00000392283.4	37	c.13	CCDS2333.1	2	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967372	0.53507	.	.	ENSG00000240344	ENST00000286175;ENST00000392283;ENST00000409264;ENST00000409361;ENST00000409449;ENST00000443398;ENST00000457063	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.2	-6.03	0.02185	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (2);Cyclophilin-like (1);	0.071307	0.56097	D	0.000024	T	0.62134	0.2403	L	0.55481	1.735	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.986;0.992	D;D;D	0.75020	0.984;0.931;0.985	T	0.69394	-0.5157	10	0.62326	D	0.03	.	17.5046	0.87741	0.1368:0.0:0.8632:0.0	.	5;5;5	Q86UR0;Q9H2H8-2;Q9H2H8	.;.;PPIL3_HUMAN	M	5;5;24;5;5;5;5	ENSP00000286175:L5M;ENSP00000376107:L5M;ENSP00000386893:L24M;ENSP00000386235:L5M;ENSP00000387012:L5M;ENSP00000391082:L5M;ENSP00000401196:L5M	ENSP00000286175:L5M	L	-	1	2	PPIL3	201458731	0.003000	0.15002	0.983000	0.44433	0.965000	0.64279	0.051000	0.14141	-0.590000	0.05866	-0.290000	0.09829	CTG	PPIL3	-	superfamily_Cyclophilin-like_PPIase_dom	ENSG00000240344		0.323	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL3	HGNC	protein_coding	OTTHUMT00000256190.3	-	0	28	0	G			201750486	-1	tier1	-	no_errors	ENST00000286175	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.971	T	T	201750486	G	T	201750486	3	4	8	1	0	0	0	0	1	0	0	0	12370	1020	36	3	602	3	PPIL3	2	201750486	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	3178581	201750486	41448887	39	2211											
BMPR2	659	genome.wustl.edu	37	chr2	203420071	203420071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatccatcatactgacagCatcgtgaagaatatttcctc	12	13	5	11	1	2	3	1	2	1	1	6	3	4	3	2	0	2	1	2	0	5	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:203420071C>T	ENST00000374580.4	+	12	2222	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	561					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATACTGACAGCATCGTGAAGA	0.398																																																	0													122	119	120					2																	203420071		2203	4300	6503	SO:0001819	synonymous_variant	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1683C>T	2.37:g.203420071C>T			Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S561	ENST00000374580.4	37	c.1683	CCDS33361.1	2																																																																																			BMPR2	-	NULL	ENSG00000204217		0.398	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1		0	35	0	C	NM_001204		203420071	1			no_errors	ENST00000374580	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	203420071	C	T	203420071	2	4	8	1	0	0	0	0	0	0	0	1	1473	709	25	3		3	BMPR2	2	203420071	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	1669585	203420071	39779302	40	2212											
IHH	3549	genome.wustl.edu	37	chr2	219920495	219920495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacacggtctcccggccTcacggctgacaaggccacac	9	4	10	18	3	2	1	1	1	1	0	3	1	2	1	3	4	1	2	3	4	1	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:219920495T>C	ENST00000295731.6	-	3	669	c.670A>G	c.(670-672)Agg>Ggg	p.R224G	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	224					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)	p.R224G(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCCGGCCTCACGGCTGAC	0.677																																																	1	Substitution - Missense(1)	lung(1)											37	41	40					2																	219920495		2203	4300	6503	SO:0001583	missense	0			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"Indian hedgehog (Drosophila) homolog", "Indian hedgehog homolog (Drosophila)"			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.670A>G	2.37:g.219920495T>C	ENSP00000295731:p.Arg224Gly		B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site	p.R224G	ENST00000295731.6	37	c.670	CCDS33380.1	2	.	.	.	.	.	.	.	.	.	.	T	11.88	1.769659	0.31320	.	.	ENSG00000163501	ENST00000295731	D	0.98958	-5.27	5.18	-0.304	0.12788	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.307267	0.35615	N	0.003097	D	0.97607	0.9216	M	0.80616	2.505	0.35915	D	0.831368	B	0.32010	0.351	B	0.31390	0.129	D	0.95565	0.8633	10	0.56958	D	0.05	0.1865	16.2366	0.82380	0.0:0.0:0.6544:0.3456	.	224	Q14623	IHH_HUMAN	G	224	ENSP00000295731:R224G	ENSP00000295731:R224G	R	-	1	2	IHH	219628739	0.205000	0.23458	0.119000	0.21687	0.467000	0.32768	0.702000	0.25631	-0.032000	0.13758	-0.396000	0.06452	AGG	IHH	-	pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site	ENSG00000163501		0.677	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2		0	50	0	T	NM_002181		219920495	-1			no_errors	ENST00000295731	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.902	C	C	219920495	T	C	219920495	3	2	8	1	0	0	0	0	1	0	0	0	7634	1550	54	4	569	4	IHH	2	219920495	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	16500424	219920495	23278878	41	2213											
SLC4A3	6508	genome.wustl.edu	37	chr2	220501511	220501511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaaggcagcttcctggtccGctacatctcgcctttcaccc	6	10	8	17	3	2	0	1	0	1	0	5	1	4	0	4	2	2	3	4	2	2	3	rs200405778		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:220501511G>A	ENST00000358055.3	+	16	2962	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R817H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R844H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R817H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R844H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	817	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCCTGGTCCGCTACATCTCG	0.577																																																	0													198	181	187					2																	220501511		2203	4300	6503	SO:0001583	missense	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2450G>A	2.37:g.220501511G>A	ENSP00000350756:p.Arg817His		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.R844H	ENST00000358055.3	37	c.2531	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.104895	0.94245	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	4.46	4.46	0.54185	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91496	0.7315	M	0.90369	3.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.99;0.998;0.997	D	0.93399	0.6758	10	0.87932	D	0	.	17.65	0.88161	0.0:0.0:1.0:0.0	.	521;817;844	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	H	817;817;844;844;80;817	ENSP00000350756:R817H;ENSP00000362865:R817H;ENSP00000273063:R844H;ENSP00000362867:R844H;ENSP00000314006:R817H	ENSP00000273063:R844H	R	+	2	0	SLC4A3	220209755	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.454000	0.97621	2.454000	0.82982	0.637000	0.83480	CGC	SLC4A3	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.577	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	-	0	51	0	G	NM_005070		220501511	1	tier1	-	no_errors	ENST00000273063	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	A	A	220501511	G	A	220501511	3	1	8	1	0	0	0	0	1	0	0	0	14700	1087	38	1	2589	1	SLC4A3	2	220501511	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	581016	220501511	22697862	42	2214											
FARP2	9855	genome.wustl.edu	37	chr2	242312706	242312706	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaaatatttgacattgagGtaagaagcatgatttttgga	14	14	11	2	0	0	4	0	3	0	1	0	6	0	6	0	3	1	2	0	3	4	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr2:242312706G>T	ENST00000264042.3	+	2	353		c.e2+1		FARP2_ENST00000479427.1_Splice_Site|FARP2_ENST00000373287.4_Splice_Site|FARP2_ENST00000545004.1_Splice_Site	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2						actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGACATTGAGGTAAGAAGCAT	0.408																																																	0													72	75	74					2																	242312706		2203	4300	6503	SO:0001630	splice_region_variant	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.183+1G>T	2.37:g.242312706G>T			B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Splice_Site	SNP	-	e1+1	ENST00000264042.3	37	c.183+1	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141173	0.37825	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9066	0.88920	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FARP2	241961379	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	7.651000	0.83577	2.653000	0.90120	0.563000	0.77884	.	FARP2	-	-	ENSG00000006607		0.408	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	-	0	72	0	G		Intron	242312706	1	tier1	-	no_errors	ENST00000264042	ensembl	human	known	74_37	splice_site	64.86	13	24	SNP	1.000	T	T	242312706	G	T	242312706	5	4	8	1	0	0	0	0	0	0	1	0	5699	1275	44	3	186	3	FARP2	2	242312706	Splice_Site	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	21811195	242312706	886667	43	2215											
KAT2B	8850	genome.wustl.edu	37	chr3	20153121	20153121	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacgtgccacagttctgCgacagtctacctcggtacga	9	9	10	13	4	2	0	0	0	2	0	3	2	2	0	2	1	6	3	2	1	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:20153121C>T	ENST00000263754.4	+	6	1340	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	295					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CACAGTTCTGCGACAGTCTAC	0.483																																																	0													143	121	128					3																	20153121		2203	4300	6503	SO:0001819	synonymous_variant	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.885C>T	3.37:g.20153121C>T			Q6NSK1	Silent	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.C295	ENST00000263754.4	37	c.885	CCDS2634.1	3																																																																																			KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N	ENSG00000114166		0.483	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0	73	0	C	NM_003884		20153121	1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	silent	15.69	43	8	SNP	0.996	T	T	20153121	C	T	20153121	2	4	8	1	0	0	0	0	0	0	0	1	8009	776	27	1		1	KAT2B	3	20153121	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09		20153121	177869309	44	2216											
TRAK1	22906	genome.wustl.edu	37	chr3	42244054	42244054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaggttctttgaggaGgagcaagagaggaagctcca	13	6	17	5	0	1	3	0	1	1	2	2	9	2	7	1	5	2	3	1	5	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:42244054G>T	ENST00000327628.5	+	13	1954	c.1554G>T	c.(1552-1554)gaG>gaT	p.E518D	TRAK1_ENST00000396175.1_Missense_Mutation_p.E460D|TRAK1_ENST00000449246.1_Missense_Mutation_p.E444D|TRAK1_ENST00000341421.3_Missense_Mutation_p.E460D|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	518					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCTTTGAGGAGGAGCAAGAGA	0.677																																					GBM(44;195 884 22595 31865 41850)												0													35	43	40					3																	42244054		2203	4300	6503	SO:0001583	missense	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1554G>T	3.37:g.42244054G>T	ENSP00000328998:p.Glu518Asp		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E460D	ENST00000327628.5	37	c.1380	CCDS43072.1	3	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694552	0.48202	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000449246;ENST00000396175;ENST00000341421;ENST00000427771	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.95	5.07	0.68467	Trafficking kinesin-binding protein domain (1);	0.055444	0.64402	D	0.000001	T	0.26048	0.0635	N	0.10809	0.05	0.46149	D	0.99889	B;B;B;B;B;B	0.15719	0.011;0.011;0.014;0.011;0.004;0.008	B;B;B;B;B;B	0.21151	0.022;0.019;0.033;0.018;0.023;0.023	T	0.10776	-1.0615	10	0.36615	T	0.2	.	6.3765	0.21511	0.1393:0.0:0.704:0.1567	.	444;460;518;460;444;518	B7Z218;C9JC32;B7Z347;Q9UPV9-2;E9PDS2;Q9UPV9	.;.;.;.;.;TRAK1_HUMAN	D	518;518;444;460;460;236	ENSP00000328998:E518D;ENSP00000410717:E444D;ENSP00000379478:E460D;ENSP00000340702:E460D;ENSP00000413729:E236D	ENSP00000328998:E518D	E	+	3	2	TRAK1	42219058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.551000	0.36233	2.824000	0.97209	0.655000	0.94253	GAG	TRAK1	-	pfam_Traffickng_kinesin-bd_prot_dom	ENSG00000182606		0.677	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0	68	0	G	NM_014965		42244054	1	tier1	-	no_errors	ENST00000396175	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	42244054	G	T	42244054	3	4	8	1	0	0	0	0	1	0	0	0	16497	991	35	3	1720	3	TRAK1	3	42244054	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	22090933	42244054	155778376	45	2217											
KBTBD5	131377	genome.wustl.edu	37	chr3	42730124	42730124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattcaaatggggtgaatcgGacccgctgccttacgtggtg	8	10	13	10	3	1	1	1	1	0	0	2	2	1	2	2	4	2	1	2	4	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:42730124G>T	ENST00000287777.4	+	3	1436	c.1336G>T	c.(1336-1338)Gac>Tac	p.D446Y		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	446					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											GGGTGAATCGGACCCGCTGCC	0.622																																																	0													79	65	69					3																	42730124		2203	4300	6503	SO:0001583	missense	0			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1336G>T	3.37:g.42730124G>T	ENSP00000287777:p.Asp446Tyr		Q86SI1|Q96MR2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D446Y	ENST00000287777.4	37	c.1336	CCDS2703.1	3	.	.	.	.	.	.	.	.	.	.	g	12.78	2.040815	0.35989	.	.	ENSG00000157119	ENST00000287777;ENST00000452129	T	0.67171	-0.25	4.55	4.55	0.56014	Kelch-type beta propeller (1);	0.272385	0.41605	D	0.000858	T	0.68430	0.3000	M	0.75447	2.3	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.69409	-0.5153	10	0.59425	D	0.04	.	17.3734	0.87384	0.0:0.0:1.0:0.0	.	446	Q2TBA0	KBTB5_HUMAN	Y	446;191	ENSP00000287777:D446Y	ENSP00000287777:D446Y	D	+	1	0	KBTBD5	42705128	1.000000	0.71417	0.997000	0.53966	0.618000	0.37518	9.673000	0.98631	2.107000	0.64212	0.444000	0.29173	GAC	KLHL40	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000157119		0.622	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL40	HGNC	protein_coding	OTTHUMT00000256651.1	-	0	61	0	G	NM_152393		42730124	1	tier1	-	no_errors	ENST00000287777	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	42730124	G	T	42730124	3	4	8	1	0	0	0	0	1	0	0	0	8023	1174	41	3	1346	3	KBTBD5	3	42730124	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	486070	42730124	155292306	46	2218											
NBEAL2	23218	genome.wustl.edu	37	chr3	47036669	47036669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggctctgtgacagcTgccctgccagccgtgccacc	5	8	12	16	1	2	1	1	1	1	0	2	1	2	1	5	2	5	2	5	2	0	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:47036669T>C	ENST00000450053.3	+	13	1623	c.1444T>C	c.(1444-1446)Tgc>Cgc	p.C482R	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.C482R	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	482					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGTGACAGCTGCCCTGCCAG	0.677																																																	0													7	9	8					3																	47036669		1963	4081	6044	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1444T>C	3.37:g.47036669T>C	ENSP00000415034:p.Cys482Arg		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C482R	ENST00000450053.3	37	c.1444	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774227	0.31411	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.50548	0.84;0.74	4.59	3.34	0.38264	Armadillo-like helical (1);Armadillo-type fold (1);	0.321554	0.35436	N	0.003214	T	0.40171	0.1106	L	0.44542	1.39	0.80722	D	1	P;B	0.47302	0.893;0.003	B;B	0.42653	0.394;0.002	T	0.41142	-0.9525	10	0.56958	D	0.05	.	10.7872	0.46411	0.0:0.0:0.1578:0.8422	.	448;482	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	R	482;482;448	ENSP00000292309:C482R;ENSP00000415034:C482R	ENSP00000292309:C482R	C	+	1	0	NBEAL2	47011673	0.013000	0.17824	1.000000	0.80357	0.984000	0.73092	0.114000	0.15520	2.053000	0.61076	0.459000	0.35465	TGC	NBEAL2	-	superfamily_ARM-type_fold	ENSG00000160796		0.677	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	17	0	T	XM_291064		47036669	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	C	C	47036669	T	C	47036669	3	2	8	1	0	0	0	0	1	0	0	0	10227	1580	55	4	1494	4	NBEAL2	3	47036669	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	4306545	47036669	150985761	47	2219											
ERC2	26059	genome.wustl.edu	37	chr3	56330140	56330140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccatccgccgcgttcgCtcattgtcatcctccaggct	4	12	8	17	4	3	0	2	0	1	0	7	0	6	0	5	1	1	3	5	1	0	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:56330140C>T	ENST00000288221.6	-	3	1236	c.981G>A	c.(979-981)gaG>gaA	p.E327E		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	327						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCGCGTTCGCTCATTGTCAT	0.448																																																	0													179	177	177					3																	56330140		1903	4114	6017	SO:0001819	synonymous_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.981G>A	3.37:g.56330140C>T			Q2T9F6|Q86TK4	Silent	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.E327	ENST00000288221.6	37	c.981	CCDS46851.1	3																																																																																			ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.448	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0	84	0	C	NM_015576		56330140	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	silent	40.70	51	35	SNP	0.981	T	T	56330140	C	T	56330140	2	4	8	1	0	0	0	0	0	0	0	1	5227	796	28	3		3	ERC2	3	56330140	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	9293471	56330140	141692290	48	2220											
CNTN3	5067	genome.wustl.edu	37	chr3	74411155	74411155	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacctgcacctgaaccaacTtcttcattggattctttgaa	10	13	5	13	0	3	2	1	2	2	0	3	3	3	3	4	1	3	1	4	1	3	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:74411155T>G	ENST00000263665.6	-	10	1277	c.1250A>C	c.(1249-1251)aAg>aCg	p.K417T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	417	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGAACCAACTTCTTCATTGG	0.473																																																	0													64	69	67					3																	74411155		2203	4300	6503	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1250A>C	3.37:g.74411155T>G	ENSP00000263665:p.Lys417Thr		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K417T	ENST00000263665.6	37	c.1250	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	14.92	2.678446	0.47886	.	.	ENSG00000113805	ENST00000263665	T	0.69561	-0.41	5.71	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.239916	0.42964	D	0.000635	T	0.56062	0.1960	L	0.41961	1.31	0.29403	N	0.861774	B	0.14438	0.01	B	0.22152	0.038	T	0.51419	-0.8708	10	0.33141	T	0.24	.	9.0758	0.36519	0.0:0.1443:0.0:0.8557	.	417	Q9P232	CNTN3_HUMAN	T	417	ENSP00000263665:K417T	ENSP00000263665:K417T	K	-	2	0	CNTN3	74493845	0.893000	0.30496	0.817000	0.32601	0.989000	0.77384	1.790000	0.38734	2.178000	0.69098	0.482000	0.46254	AAG	CNTN3	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000113805		0.473	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	54	0	T	NM_020872		74411155	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	61.54	10	16	SNP	0.703	G	G	74411155	T	G	74411155	3	3	8	1	0	0	0	0	1	0	0	0	3649	1609	56	4	1888	4	CNTN3	3	74411155	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	18081015	74411155	123611275	49	2221											
ROBO1	6091	genome.wustl.edu	37	chr3	78734979	78734979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaataaccaacatcagatCgctggacattagtaattgtg	14	12	8	7	1	1	1	1	0	0	1	2	2	1	2	1	1	2	3	1	1	5	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:78734979C>T	ENST00000464233.1	-	10	1372	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	ROBO1_ENST00000495273.1_Missense_Mutation_p.R384Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R384Q|ROBO1_ENST00000436010.2_Missense_Mutation_p.R381Q	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	420	Ig-like C2-type 4.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AACATCAGATCGCTGGACATT	0.408																																																	0													66	65	65					3																	78734979		1919	4116	6035	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1259G>A	3.37:g.78734979C>T	ENSP00000420321:p.Arg420Gln		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R420Q	ENST00000464233.1	37	c.1259	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274912	0.80580	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.74842	-0.88;-0.88;1.64;1.64	5.42	5.42	0.78866	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.107189	0.56097	D	0.000028	T	0.71913	0.3396	N	0.20304	0.555	0.40113	D	0.976517	P;D;P;D;D	0.62365	0.846;0.991;0.916;0.991;0.988	B;P;P;P;P	0.58520	0.391;0.783;0.612;0.722;0.84	T	0.70655	-0.4812	9	.	.	.	.	12.8904	0.58068	0.0:0.9252:0.0:0.0748	.	384;420;384;384;381	Q1RMC7;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	Q	381;384;420;384;384;420	ENSP00000406043:R381Q;ENSP00000420321:R420Q;ENSP00000420637:R384Q;ENSP00000417992:R384Q	.	R	-	2	0	ROBO1	78817669	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	4.900000	0.63252	2.700000	0.92200	0.563000	0.77884	CGA	ROBO1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000169855		0.408	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1		0	60	0	C	NM_002941		78734979	-1			no_errors	ENST00000464233	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	78734979	C	T	78734979	3	4	8	1	0	0	0	0	1	0	0	0	13558	884	31	1	3784	1	ROBO1	3	78734979	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4323824	78734979	119287451	50	2222											
OR5K4	403278	genome.wustl.edu	37	chr3	98072886	98072886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccaatgtacatctttctGggcaacctggctctgatgga	10	11	9	11	0	3	1	0	1	3	0	3	2	3	2	2	3	2	3	2	3	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:98072886G>T	ENST00000354924.2	+	1	189	c.189G>T	c.(187-189)ctG>ctT	p.L63L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G64fs*5(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						ACATCTTTCTGGGCAACCTGG	0.443																																																	1	Deletion - Frameshift(1)	lung(1)											301	296	298					3																	98072886		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"GPCR / Class A : Olfactory receptors"	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.189G>T	3.37:g.98072886G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L63	ENST00000354924.2	37	c.189	CCDS33802.1	3																																																																																			OR5K4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196098		0.443	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	HGNC	protein_coding	OTTHUMT00000359114.1	-	0	86	0	G			98072886	1	tier1	-	no_errors	ENST00000354924	ensembl	human	known	74_37	silent	9.80	46	5	SNP	1.000	T	T	98072886	G	T	98072886	2	4	8	1	0	0	0	0	0	0	0	1	11208	1335	47	3		3	OR5K4	3	98072886	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	19337907	98072886	99949544	51	2223											
TRAT1	50852	genome.wustl.edu	37	chr3	108549545	108549545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtgcccctttttcctctgGggacttctagcattgttggg	3	15	13	10	0	2	0	0	0	2	0	3	1	3	1	3	4	2	2	3	4	1	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:108549545G>T	ENST00000295756.6	+	2	266	c.36G>T	c.(34-36)tgG>tgT	p.W12C	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	12					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTTTCCTCTGGGGACTTCTAG	0.398																																																	0													194	190	192					3																	108549545		2203	4300	6503	SO:0001583	missense	0			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"T cell receptor interacting molecule"	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.36G>T	3.37:g.108549545G>T	ENSP00000295756:p.Trp12Cys		Q9NZX5	Missense_Mutation	SNP	NULL	p.W12C	ENST00000295756.6	37	c.36	CCDS33813.1	3	.	.	.	.	.	.	.	.	.	.	G	16.32	3.088864	0.55968	.	.	ENSG00000163519	ENST00000295756	T	0.53640	0.61	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000018	T	0.66257	0.2771	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67461	-0.5665	10	0.62326	D	0.03	0.1058	14.225	0.65853	0.0:0.0:1.0:0.0	.	12	Q6PIZ9	TRAT1_HUMAN	C	12	ENSP00000295756:W12C	ENSP00000295756:W12C	W	+	3	0	TRAT1	110032235	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	4.984000	0.63838	2.732000	0.93576	0.591000	0.81541	TGG	TRAT1	-	NULL	ENSG00000163519		0.398	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAT1	HGNC	protein_coding	OTTHUMT00000353794.1	-	0	92	0	G	NM_016388		108549545	1	tier1	-	no_errors	ENST00000295756	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	108549545	G	T	108549545	3	4	8	1	0	0	0	0	1	0	0	0	16514	1241	43	3	42	3	TRAT1	3	108549545	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	10476659	108549545	89472885	52	2224											
OSBPL11	114885	genome.wustl.edu	37	chr3	125286337	125286337	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatggaagtagctttgaGcattaagagatcctggtcca	11	11	11	8	0	0	2	0	1	0	1	2	4	2	3	3	2	3	3	3	2	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:125286337G>C	ENST00000296220.5	-	6	1058	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	257					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GTAGCTTTGAGCATTAAGAGA	0.428																																																	0													214	193	200					3																	125286337		2203	4300	6503	SO:0001583	missense	0			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.769C>G	3.37:g.125286337G>C	ENSP00000296220:p.Leu257Val		A8K9I7	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L257V	ENST00000296220.5	37	c.769	CCDS3033.1	3	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287167	0.59867	.	.	ENSG00000144909	ENST00000296220	T	0.46063	0.88	4.68	4.68	0.58851	.	0.071424	0.53938	D	0.000041	T	0.43055	0.1230	M	0.69463	2.115	0.80722	D	1	P	0.39282	0.666	B	0.35899	0.213	T	0.45101	-0.9284	10	0.34782	T	0.22	-10.5731	17.8139	0.88625	0.0:0.0:1.0:0.0	.	257	Q9BXB4	OSB11_HUMAN	V	257	ENSP00000296220:L257V	ENSP00000296220:L257V	L	-	1	0	OSBPL11	126769027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.100000	0.94213	2.415000	0.81967	0.655000	0.94253	CTC	OSBPL11	-	NULL	ENSG00000144909		0.428	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL11	HGNC	protein_coding	OTTHUMT00000356295.1	-	0	74	0	G	NM_022776		125286337	-1	tier1	-	no_errors	ENST00000296220	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	C	C	125286337	G	C	125286337	3	2	8	1	0	0	0	0	1	0	0	0	11315	971	34	5	1506	5	OSBPL11	3	125286337	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	16736792	125286337	72736093	53	2225											
STAG1	10274	genome.wustl.edu	37	chr3	136141317	136141317	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcaatcagctggcttcGagctatgtcaactctgttct	8	14	7	12	1	6	0	4	0	2	0	7	1	6	0	0	1	3	4	0	1	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:136141317G>T	ENST00000383202.2	-	19	2228	c.1972C>A	c.(1972-1974)Cga>Aga	p.R658R	STAG1_ENST00000434713.2_Silent_p.R432R|STAG1_ENST00000536929.1_Silent_p.R242R|STAG1_ENST00000236698.5_Silent_p.R658R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	658					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGCTGGCTTCGAGCTATGTCA	0.373																																																	0													132	130	131					3																	136141317		2203	4300	6503	SO:0001819	synonymous_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1972C>A	3.37:g.136141317G>T			O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R658	ENST00000383202.2	37	c.1972	CCDS3090.1	3																																																																																			STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.373	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1		0	42	0	G	NM_005862		136141317	-1			no_errors	ENST00000383202	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	T	T	136141317	G	T	136141317	2	4	8	1	0	0	0	0	0	0	0	1	15289	1066	37	2		2	STAG1	3	136141317	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	10854980	136141317	61881113	54	2226											
PRR23A	729627	genome.wustl.edu	37	chr3	138724343	138724343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtctgcgggccttgcaCggagggcgtttcgggagcgg	4	8	19	10	6	1	0	0	0	1	0	3	2	1	2	1	5	3	2	1	5	0	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:138724343C>T	ENST00000383163.2	-	1	767	c.768G>A	c.(766-768)ccG>ccA	p.P256P	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	256	Pro-rich.							p.P256P(1)		endometrium(3)|kidney(1)|lung(7)	11						GGGCCTTGCACGGAGGGCGTT	0.647																																																	1	Substitution - coding silent(1)	lung(1)											18	18	18					3																	138724343		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.768G>A	3.37:g.138724343C>T				Silent	SNP	pfam_UPF0572	p.P256	ENST00000383163.2	37	c.768	CCDS46923.1	3																																																																																			PRR23A	-	pfam_UPF0572	ENSG00000206260		0.647	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	HGNC	protein_coding	OTTHUMT00000361503.1	-	0	93	0	C	NM_001134659		138724343	-1	tier1	-	no_errors	ENST00000383163	ensembl	human	known	74_37	silent	10.34	52	6	SNP	0.000	T	T	138724343	C	T	138724343	2	4	8	1	0	0	0	0	0	0	0	1	12636	523	19	1		1	PRR23A	3	138724343	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	2583026	138724343	59298087	55	2227											
SMC4	10051	genome.wustl.edu	37	chr3	160148955	160148955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaaatagatggtcacattGctgaacataattctaaaata	19	11	5	6	0	2	2	1	1	1	1	2	2	2	2	0	1	3	1	0	1	8	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:160148955G>A	ENST00000357388.3	+	20	3527	c.3076G>A	c.(3076-3078)Gct>Act	p.A1026T	SMC4_ENST00000469762.1_Missense_Mutation_p.A1001T|SMC4_ENST00000344722.5_Missense_Mutation_p.A1026T|SMC4_ENST00000360111.2_Intron|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1026					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGTCACATTGCTGAACATAA	0.294																																																	0													40	42	41					3																	160148955		2202	4298	6500	SO:0001583	missense	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.3076G>A	3.37:g.160148955G>A	ENSP00000349961:p.Ala1026Thr		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.A1026T	ENST00000357388.3	37	c.3076	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469894	0.26423	.	.	ENSG00000113810	ENST00000357388;ENST00000469762;ENST00000344722;ENST00000545277	T;T;T	0.78003	-1.14;-0.85;-1.14	5.95	-2.11	0.07187	RecF/RecN/SMC (1);	0.549203	0.21981	N	0.066302	T	0.52661	0.1748	N	0.11870	0.19	0.58432	D	0.999997	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.11329	0.005;0.003;0.006	T	0.11155	-1.0599	10	0.24483	T	0.36	-0.8686	7.0387	0.25008	0.1794:0.0:0.3107:0.5099	.	1001;1001;1026	B3KXX5;E9PD53;Q9NTJ3	.;.;SMC4_HUMAN	T	1026;1001;1026;620	ENSP00000349961:A1026T;ENSP00000417964:A1001T;ENSP00000341382:A1026T	ENSP00000341382:A1026T	A	+	1	0	SMC4	161631649	0.772000	0.28567	0.991000	0.47740	0.997000	0.91878	0.065000	0.14466	-0.134000	0.11516	0.655000	0.94253	GCT	SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000113810		0.294	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	-	0	82	0	G			160148955	1	tier1	-	no_errors	ENST00000344722	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.384	A	A	160148955	G	A	160148955	3	1	8	1	0	0	0	0	1	0	0	0	14830	1319	46	3	3150	3	SMC4	3	160148955	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	21424612	160148955	37873475	56	2228											
EIF4A2	1974	genome.wustl.edu	37	chr3	186503674	186503674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaaggcttgggttttagatCcaaaaggtaattctggcact	11	14	10	6	0	1	1	0	0	1	1	2	1	2	1	1	4	0	4	1	4	5	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:186503674C>T	ENST00000323963.5	+	5	415	c.351C>T	c.(349-351)atC>atT	p.I117I	SNORA63_ENST00000363548.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_Silent_p.I22I|EIF4A2_ENST00000440191.2_Silent_p.I118I|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	117	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GGTTTTAGATCCAAAAGGTAA	0.398			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	0													72	72	72					3																	186503674		2203	4300	6503	SO:0001819	synonymous_variant	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.351C>T	3.37:g.186503674C>T			D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif	p.P72S	ENST00000323963.5	37	c.214	CCDS3282.1	3																																																																																			EIF4A2	-	NULL	ENSG00000156976		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1		0	40	0	C	NM_001967		186503674	1			no_errors	ENST00000443963	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	186503674	C	T	186503674	2	4	8	1	0	0	0	0	0	0	0	1	5041	845	30	3		3	EIF4A2	3	186503674	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	26354719	186503674	11518756	57	2229											
TP63	8626	genome.wustl.edu	37	chr3	189584487	189584487	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggacagattgcccctccTagtcatttgattcgagtaga	10	11	10	10	1	1	3	1	1	0	2	3	5	2	4	3	1	1	2	3	1	2	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr3:189584487T>C	ENST00000264731.3	+	6	872	c.783T>C	c.(781-783)ccT>ccC	p.P261P	TP63_ENST00000456148.1_Silent_p.P167P|TP63_ENST00000382063.4_Silent_p.P176P|TP63_ENST00000392460.3_Silent_p.P261P|TP63_ENST00000392463.2_Silent_p.P167P|TP63_ENST00000449992.1_Silent_p.P82P|TP63_ENST00000354600.5_Silent_p.P167P|TP63_ENST00000392461.3_Silent_p.P167P|TP63_ENST00000440651.2_Silent_p.P261P|TP63_ENST00000437221.1_Silent_p.P167P|TP63_ENST00000418709.2_Silent_p.P261P|TP63_ENST00000320472.5_Silent_p.P261P	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	261					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTGCCCCTCCTAGTCATTTGA	0.423										HNSCC(45;0.13)																																							0													74	66	69					3																	189584487		2203	4300	6503	SO:0001819	synonymous_variant	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.783T>C	3.37:g.189584487T>C			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.P261	ENST00000264731.3	37	c.783	CCDS3293.1	3																																																																																			TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000073282		0.423	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	-	0	74	0	T	NM_003722		189584487	1	tier1	-	no_errors	ENST00000264731	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.991	C	C	189584487	T	C	189584487	2	2	8	1	0	0	0	0	0	0	0	1	16440	1509	53	4		4	TP63	3	189584487	Silent	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	3080813	189584487	8437943	58	2230											
HTT	3064	genome.wustl.edu	37	chr4	3162097	3162097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcagatactagagctggCcacactgcaggacattggga	11	9	11	10	0	1	2	1	0	1	2	2	4	1	4	1	3	3	2	1	3	2	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:3162097C>T	ENST00000355072.5	+	29	3987	c.3842C>T	c.(3841-3843)gCc>gTc	p.A1281V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1281					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTAGAGCTGGCCACACTGCAG	0.502																																																	0													209	200	203					4																	3162097		1972	4128	6100	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3842C>T	4.37:g.3162097C>T	ENSP00000347184:p.Ala1281Val		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.A1281V	ENST00000355072.5	37	c.3842	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510401	0.85389	.	.	ENSG00000197386	ENST00000355072	T	0.63580	-0.05	4.27	4.27	0.50696	.	0.057362	0.64402	D	0.000001	T	0.74839	0.3769	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.73833	-0.3858	10	0.33141	T	0.24	.	16.6252	0.84968	0.0:1.0:0.0:0.0	.	1281	P42858	HD_HUMAN	V	1281	ENSP00000347184:A1281V	ENSP00000347184:A1281V	A	+	2	0	HTT	3131895	1.000000	0.71417	0.873000	0.34254	0.745000	0.42441	7.014000	0.76380	2.069000	0.61940	0.563000	0.77884	GCC	HTT	-	NULL	ENSG00000197386		0.502	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	80	0	C	NM_002111		3162097	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	3162097	C	T	3162097	3	4	8	1	0	0	0	0	1	0	0	0	7484	739	26	3	3956	3	HTT	4	3162097	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09		3162097	187992179	59	2231											
WFS1	7466	genome.wustl.edu	37	chr4	6293076	6293076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgctggagaatgtcGgccaggtcaacgagcacggt	9	6	16	10	4	1	1	1	0	0	1	2	4	1	2	1	5	4	3	1	5	2	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:6293076G>A	ENST00000226760.1	+	5	783	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	WFS1_ENST00000503569.1_Missense_Mutation_p.G205S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	205					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGAGAATGTCGGCCAGGTCAA	0.652																																																	0													77	72	74					4																	6293076		2203	4300	6503	SO:0001583	missense	0			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.613G>A	4.37:g.6293076G>A	ENSP00000226760:p.Gly205Ser		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.G205S	ENST00000226760.1	37	c.613	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157211	0.21454	.	.	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.92911	-3.13;-3.13	4.72	4.72	0.59763	.	0.176513	0.49305	D	0.000141	D	0.84447	0.5474	N	0.14661	0.345	0.34474	D	0.703119	B	0.20780	0.048	B	0.17722	0.019	T	0.82855	-0.0251	10	0.17832	T	0.49	-20.3476	16.6615	0.85242	0.0:0.0:1.0:0.0	.	205	O76024	WFS1_HUMAN	S	205	ENSP00000423337:G205S;ENSP00000226760:G205S	ENSP00000226760:G205S	G	+	1	0	WFS1	6343977	1.000000	0.71417	0.332000	0.25469	0.214000	0.24535	5.378000	0.66190	2.175000	0.68902	0.561000	0.74099	GGC	WFS1	-	NULL	ENSG00000109501		0.652	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	-	0	20	0	G			6293076	1	tier1	-	no_errors	ENST00000226760	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.879	A	A	6293076	G	A	6293076	3	1	8	1	0	0	0	0	1	0	0	0	17409	1116	39	1	627	1	WFS1	4	6293076	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	3130979	6293076	184861200	60	2232											
TBC1D14	57533	genome.wustl.edu	37	chr4	7012499	7012499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggcgttttttagagtggaCcatggccttgtgagtatcct	7	15	12	7	1	0	2	0	1	0	1	1	3	1	3	3	3	0	2	3	3	2	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:7012499C>T	ENST00000409757.4	+	11	1762	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	TBC1D14_ENST00000448507.1_Silent_p.D546D|TBC1D14_ENST00000446947.2_Silent_p.D193D|TBC1D14_ENST00000451522.2_Silent_p.D266D|TBC1D14_ENST00000410031.1_Silent_p.D318D	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	546	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TTAGAGTGGACCATGGCCTTG	0.423																																																	0													212	194	200					4																	7012499		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1638C>T	4.37:g.7012499C>T			B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D546	ENST00000409757.4	37	c.1638	CCDS3394.2	4																																																																																			TBC1D14	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000132405		0.423	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3		0	114	0	C	NM_020773		7012499	1			no_errors	ENST00000409757	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	7012499	C	T	7012499	2	4	8	1	0	0	0	0	0	0	0	1	15650	506	18	3		3	TBC1D14	4	7012499	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	719423	7012499	184141777	61	2233											
BOD1L	259282	genome.wustl.edu	37	chr4	13606489	13606489	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttctgagcgttctacttGcctttttacatctcttgtgt	6	20	6	9	1	3	1	0	1	3	0	4	1	3	1	1	0	4	1	1	0	3	8			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:13606489G>A	ENST00000040738.5	-	10	2170	c.2035C>T	c.(2035-2037)Caa>Taa	p.Q679*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	679	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CGTTCTACTTGCCTTTTTACA	0.398																																																	0													257	269	265					4																	13606489		2203	4300	6503	SO:0001587	stop_gained	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2035C>T	4.37:g.13606489G>A	ENSP00000040738:p.Gln679*		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	NULL	p.Q679*	ENST00000040738.5	37	c.2035	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	37	5.984945	0.97173	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.71	4.87	0.63330	.	0.350257	0.20979	N	0.082241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-8.0221	13.0758	0.59087	0.0746:0.0:0.9254:0.0	.	.	.	.	X	679	.	ENSP00000040738:Q679X	Q	-	1	0	BOD1L	13215587	1.000000	0.71417	0.017000	0.16124	0.394000	0.30568	7.102000	0.77005	1.424000	0.47217	0.563000	0.77884	CAA	BOD1L1	-	NULL	ENSG00000038219		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	62	0	G	NM_148894		13606489	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	nonsense	29.27	29	12	SNP	0.082	A	A	13606489	G	A	13606489	4	1	8	1	0	0	0	0	0	1	0	0	1485	1328	46	3	7188	3	BOD1L	4	13606489	Nonsense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	6593990	13606489	177547787	62	2234											
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984854	41984854	+	Missense_Mutation	SNP	C	C	T																															gcctccatgatgcccacctgCtcagaaccatcccttccccg																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:41984854C>T	ENST00000333141.5	+	1	1142	c.1045C>T	c.(1045-1047)Ctc>Ttc	p.L349F		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	349										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGCCCACCTGCTCAGAACCAT	0.637																																																	0													93	77	83					4																	41984854		2203	4300	6503	SO:0001583	missense	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.1045C>T	4.37:g.41984854C>T	ENSP00000327796:p.Leu349Phe		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L349F	ENST00000333141.5	37	c.1045	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372773	0.61624	.	.	ENSG00000182308	ENST00000333141	T	0.34072	1.38	0.97	0.97	0.19692	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42131	0.1189	M	0.85859	2.78	0.37957	D	0.932839	D	0.63046	0.992	P	0.48627	0.584	T	0.49579	-0.8925	10	0.87932	D	0	.	3.297	0.06970	0.0:0.6995:0.0:0.3004	.	349	Q3SXM0	DC4L1_HUMAN	F	349	ENSP00000327796:L349F	ENSP00000327796:L349F	L	+	1	0	DCAF4L1	41679611	1.000000	0.71417	0.021000	0.16686	0.508000	0.34012	1.807000	0.38902	0.821000	0.34540	0.313000	0.20887	CTC	DCAF4L1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000182308		0.637	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	-	0	70	0	C	NM_001029955		41984854	1	tier1	-	no_errors	ENST00000333141	ensembl	human	known	74_37	missense	69.84	19	44	SNP	1.000	T	T	41984854	C	T	41984854	3	4	8	1	0	0	0	0	1	0	0	0	4280	797	28	3	1047	3	DCAF4L1	4	41984854	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	28378365	41984854	149169422	63	2235	6	2									
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984856	41984856	+	Silent	SNP	C	C	T																															ctccatgatgcccacctgctCagaaccatcccttccccgta																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:41984856C>T	ENST00000333141.5	+	1	1144	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	349										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCCACCTGCTCAGAACCATCC	0.637																																																	0													93	77	82					4																	41984856		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.1047C>T	4.37:g.41984856C>T			B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L349	ENST00000333141.5	37	c.1047	CCDS33978.1	4																																																																																			DCAF4L1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000182308		0.637	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	-	0	66	0	C	NM_001029955		41984856	1	tier1	-	no_errors	ENST00000333141	ensembl	human	known	74_37	silent	68.33	19	41	SNP	1.000	T	T	41984856	C	T	41984856	2	4	8	1	0	0	0	0	0	0	0	1	4280	813	29	3		3	DCAF4L1	4	41984856	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	2	41984856	149169420	64	2236	6	2									
KDR	3791	genome.wustl.edu	37	chr4	55970908	55970908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcctgcaaggatgcattcTtaagctccatgatcaaaatg	12	11	9	9	0	2	1	1	1	1	0	4	2	4	2	2	2	3	3	2	2	4	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:55970908T>C	ENST00000263923.4	-	13	2184	c.1889A>G	c.(1888-1890)aAg>aGg	p.K630R		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	630	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGATGCATTCTTAAGCTCCAT	0.453			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													121	105	111					4																	55970908		2203	4300	6503	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1889A>G	4.37:g.55970908T>C	ENSP00000263923:p.Lys630Arg		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.K630R	ENST00000263923.4	37	c.1889	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	9.176	1.022485	0.19433	.	.	ENSG00000128052	ENST00000263923	T	0.11930	2.73	5.99	4.79	0.61399	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.245292	0.42964	D	0.000621	T	0.06416	0.0165	N	0.05230	-0.09	0.21675	N	0.999598	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35176	-0.9799	10	0.19147	T	0.46	.	10.5788	0.45244	0.0:0.1271:0.0:0.8729	.	630;630	P35968-2;P35968	.;VGFR2_HUMAN	R	630	ENSP00000263923:K630R	ENSP00000263923:K630R	K	-	2	0	KDR	55665665	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	1.978000	0.40598	2.292000	0.77174	0.533000	0.62120	AAG	KDR	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000128052		0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	-	0	52	0	T			55970908	-1	tier1	-	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	55970908	T	C	55970908	3	2	8	1	0	0	0	0	1	0	0	0	8166	1609	56	4	2253	4	KDR	4	55970908	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	13986052	55970908	135183368	65	2237											
EPHA5	2044	genome.wustl.edu	37	chr4	66280141	66280141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctctttagatttgataatCgtgtagctggtctcttggtc	6	18	10	7	1	2	2	0	1	2	1	6	2	2	2	0	2	1	2	0	2	3	6	rs368999628		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:66280141C>T	ENST00000273854.3	-	7	2148	c.1548G>A	c.(1546-1548)acG>acA	p.T516T	EPHA5_ENST00000511294.1_Silent_p.T516T|EPHA5_ENST00000354839.4_Silent_p.T516T|EPHA5_ENST00000432638.2_Silent_p.T352T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	516	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTTGATAATCGTGTAGCTGG	0.393										TSP Lung(17;0.13)																																							0								C	,	0,4406		0,0,2203	176	142	153		1548,1548	-5.7	0.9	4		153	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	EPHA5	NM_004439.5,NM_182472.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	516/1038,516/1016	66280141	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1548G>A	4.37:g.66280141C>T			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T516	ENST00000273854.3	37	c.1548	CCDS3513.1	4																																																																																			EPHA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3	ENSG00000145242		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	33	0	C	NM_004439		66280141	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	silent	73.91	6	17	SNP	0.836	T	T	66280141	C	T	66280141	2	4	8	1	0	0	0	0	0	0	0	1	5186	871	31	1		1	EPHA5	4	66280141	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	10309233	66280141	124874135	66	2238											
GRSF1	2926	genome.wustl.edu	37	chr4	71698910	71698910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgctctgactccatttCaattaaggcatcaccccttc	9	13	4	15	0	3	1	2	1	1	0	6	1	5	1	4	1	1	2	4	1	2	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:71698910C>T	ENST00000254799.6	-	3	712	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	GRSF1_ENST00000502323.1_Missense_Mutation_p.E37K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E81K|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Missense_Mutation_p.E37K	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	199	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E199K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACTCCATTTCAATTAAGGCA	0.448																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											159	159	159					4																	71698910		2165	4262	6427	SO:0001583	missense	0			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"RNA binding motif (RRM) containing"	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.595G>A	4.37:g.71698910C>T	ENSP00000254799:p.Glu199Lys		B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E199K	ENST00000254799.6	37	c.595	CCDS47069.1	4	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456238	0.84317	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.31231	0.0790	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.942;0.998	T	0.00456	-1.1728	10	0.27785	T	0.31	-6.8523	19.0813	0.93182	0.0:1.0:0.0:0.0	.	112;199	B7Z5F9;Q12849	.;GRSF1_HUMAN	K	199;37;131;172;37;81	ENSP00000254799:E199K;ENSP00000389219:E37K;ENSP00000427354:E172K;ENSP00000425430:E37K;ENSP00000443380:E81K	ENSP00000254799:E199K	E	-	1	0	GRSF1	71917774	1.000000	0.71417	0.999000	0.59377	0.016000	0.09150	7.564000	0.82326	2.798000	0.96311	0.655000	0.94253	GAA	GRSF1	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000132463		0.448	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GRSF1	HGNC	protein_coding	OTTHUMT00000362642.1		0	39	0	C	NM_002092		71698910	-1			no_errors	ENST00000254799	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	71698910	C	T	71698910	3	4	8	1	0	0	0	0	1	0	0	0	6836	835	29	3	875	3	GRSF1	4	71698910	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	5418769	71698910	119455366	67	2239											
CCDC158	339965	genome.wustl.edu	37	chr4	77300523	77300523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagatcgctgagctgacGcatatacatagagttttggt	10	13	10	8	2	0	4	0	2	0	2	2	4	1	4	1	1	2	4	1	1	3	6	rs374690016		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:77300523G>T	ENST00000388914.3	-	8	1101	c.949C>A	c.(949-951)Cgt>Agt	p.R317S	CCDC158_ENST00000434846.2_Missense_Mutation_p.R317S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	317										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTGAGCTGACGCATATACATA	0.398																																																	0													149	136	140					4																	77300523		1879	4108	5987	SO:0001583	missense	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.949C>A	4.37:g.77300523G>T	ENSP00000373566:p.Arg317Ser		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R317S	ENST00000388914.3	37	c.949	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887703	0.72410	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.77750	-1.12;1.39	5.35	5.35	0.76521	.	0.000000	0.53938	D	0.000057	T	0.71307	0.3324	N	0.19112	0.55	0.38508	D	0.948402	P;P	0.51537	0.946;0.841	P;B	0.47118	0.538;0.324	T	0.77918	-0.2408	10	0.66056	D	0.02	.	15.9979	0.80265	0.0:0.0:1.0:0.0	.	317;317	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	S	317	ENSP00000373566:R317S;ENSP00000401742:R317S	ENSP00000316815:R317S	R	-	1	0	CCDC158	77519547	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.783000	0.55409	2.500000	0.84329	0.650000	0.86243	CGT	CCDC158	-	NULL	ENSG00000163749		0.398	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2		0	75	0	G	NM_001042784		77300523	-1			no_errors	ENST00000388914	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	77300523	G	T	77300523	3	4	8	1	0	0	0	0	1	0	0	0	2797	1087	38	2	2460	2	CCDC158	4	77300523	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	5601613	77300523	113853753	68	2240											
TIGD2	166815	genome.wustl.edu	37	chr4	90035297	90035297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggaaaaaacttttccctgGcaatgaagagaattcaggta	16	10	9	6	0	1	2	1	1	0	1	2	4	2	3	1	3	1	2	1	3	7	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:90035297G>A	ENST00000317005.2	+	1	1330	c.1172G>A	c.(1171-1173)gGc>gAc	p.G391D	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	391						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CTTTTCCCTGGCAATGAAGAG	0.368																																																	0													87	89	88					4																	90035297		2203	4300	6503	SO:0001583	missense	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1172G>A	4.37:g.90035297G>A	ENSP00000317170:p.Gly391Asp			Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G391D	ENST00000317005.2	37	c.1172	CCDS3633.1	4	.	.	.	.	.	.	.	.	.	.	G	1.263	-0.615352	0.03663	.	.	ENSG00000180346	ENST00000317005	T	0.20332	2.08	4.56	-2.47	0.06442	.	0.212782	0.23512	N	0.047384	T	0.11879	0.0289	L	0.43152	1.355	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.36456	-0.9747	10	0.11794	T	0.64	-1.0383	5.9363	0.19167	0.0861:0.5205:0.2611:0.1323	.	391	Q4W5G0	TIGD2_HUMAN	D	391	ENSP00000317170:G391D	ENSP00000317170:G391D	G	+	2	0	TIGD2	90254320	0.455000	0.25736	0.305000	0.25099	0.954000	0.61252	1.364000	0.34171	-0.451000	0.07097	0.460000	0.39030	GGC	TIGD2	-	NULL	ENSG00000180346		0.368	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2	-	0	24	0	G	NM_145715		90035297	1	tier1	-	no_errors	ENST00000317005	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.014	A	A	90035297	G	A	90035297	3	1	8	1	0	0	0	0	1	0	0	0	15943	1203	42	3	1174	3	TIGD2	4	90035297	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	12734774	90035297	101118979	69	2241											
TRPC3	7222	genome.wustl.edu	37	chr4	122800993	122800993	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcttccaaaagttcataAcgaaggctggagatatcttg	12	13	9	7	1	3	1	1	0	2	1	4	3	4	1	1	2	1	2	1	2	5	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:122800993A>T	ENST00000379645.3	-	12	2737	c.2664T>A	c.(2662-2664)cgT>cgA	p.R888R	TRPC3_ENST00000264811.5_Silent_p.R815R|TRPC3_ENST00000513531.1_Silent_p.R760R	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	803					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAAGTTCATAACGAAGGCTGG	0.333																																																	0													136	128	131					4																	122800993		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.2664T>A	4.37:g.122800993A>T			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R888	ENST00000379645.3	37	c.2664	CCDS47130.1	4																																																																																			TRPC3	-	superfamily_ARM-type_fold,tigrfam_TRP_channel	ENSG00000138741		0.333	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0	49	0	A	NM_003305		122800993	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.911	T	T	122800993	A	T	122800993	2	4	8	1	0	0	0	0	0	0	0	1	16627	30	2	5		5	TRPC3	4	122800993	Silent	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	32765696	122800993	68353283	70	2242											
BBS12	166379	genome.wustl.edu	37	chr4	123664549	123664549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaattaatttggttaCggccgtgctcactaacccag	12	10	10	9	2	1	1	1	0	0	1	1	2	1	2	2	3	3	2	2	3	5	4	rs138011813		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:123664549C>T	ENST00000314218.3	+	2	1695	c.1502C>T	c.(1501-1503)aCg>aTg	p.T501M	BBS12_ENST00000542236.1_Missense_Mutation_p.T501M	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	501			T -> M (in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation). {ECO:0000269|PubMed:17160889, ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.T501M(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATTTGGTTACGGCCGTGCTC	0.423									Bardet-Biedl syndrome				C|||	1	0.000199681	8e-04	0	5008	,	,		21652	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM070031	BBS12	M	rs138011813	C	MET/THR,MET/THR	2,4404	6.2+/-15.9	0,2,2201	90	88	89		1502,1502	5.7	1	4	dbSNP_134	89	0,8600		0,0,4300	no	missense,missense	BBS12	NM_001178007.1,NM_152618.2	81,81	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	501/711,501/711	123664549	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1502C>T	4.37:g.123664549C>T	ENSP00000319062:p.Thr501Met		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.T501M	ENST00000314218.3	37	c.1502	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747648	0.69533	4.54E-4	0.0	ENSG00000181004	ENST00000314218;ENST00000542236	D;D	0.82619	-1.63;-1.63	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.91412	0.7290	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91732	0.5397	10	0.87932	D	0	-22.761	19.8362	0.96658	0.0:1.0:0.0:0.0	.	501	Q6ZW61	BBS12_HUMAN	M	501	ENSP00000319062:T501M;ENSP00000438273:T501M	ENSP00000319062:T501M	T	+	2	0	BBS12	123883999	1.000000	0.71417	0.978000	0.43139	0.408000	0.30992	6.968000	0.76086	2.684000	0.91462	0.585000	0.79938	ACG	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000181004		0.423	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1		0	49	0	C	NM_152618		123664549	1			no_errors	ENST00000314218	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	123664549	C	T	123664549	3	4	8	1	0	0	0	0	1	0	0	0	1338	536	19	1	1504	1	BBS12	4	123664549	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	863556	123664549	67489727	71	2243											
CYP4V2	285440	genome.wustl.edu	37	chr4	187130387	187130387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagggcgccatccatatGcctacgtgcccttctctgct	7	10	8	16	2	1	0	0	0	1	0	3	0	2	0	4	1	4	1	4	1	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr4:187130387G>T	ENST00000378802.4	+	10	1670	c.1366G>T	c.(1366-1368)Gcc>Tcc	p.A456S	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	456					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CCATCCATATGCCTACGTGCC	0.537																																																	0													115	104	108					4																	187130387		2203	4300	6503	SO:0001583	missense	0			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"Cytochrome P450s"	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1366G>T	4.37:g.187130387G>T	ENSP00000368079:p.Ala456Ser		B7U6W2|Q6ZTM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.A456S	ENST00000378802.4	37	c.1366	CCDS34119.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.76|13.76	2.333316|2.333316	0.41297|0.41297	.|.	.|.	ENSG00000145476|ENSG00000164344	ENST00000378802;ENST00000274118|ENST00000511608	T|.	0.70164|.	-0.46|.	5.39|5.39	1.57|1.57	0.23409|0.23409	.|.	0.216802|.	0.47455|.	N|.	0.000231|.	T|T	0.64907|0.64907	0.2641|0.2641	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	P|.	0.34826|.	0.471|.	B|.	0.37508|.	0.252|.	T|T	0.60167|0.60167	-0.7316|-0.7316	10|5	0.41790|.	T|.	0.15|.	.|.	15.0427|15.0427	0.71803|0.71803	0.0:0.0:0.5137:0.4863|0.0:0.0:0.5137:0.4863	.|.	456|.	Q6ZWL3|.	CP4V2_HUMAN|.	S|I	456;434|54	ENSP00000368079:A456S|.	ENSP00000274118:A434S|.	A|M	+|+	1|3	0|0	CYP4V2|KLKB1	187367381|187367381	0.996000|0.996000	0.38824|0.38824	0.000000|0.000000	0.03702|0.03702	0.196000|0.196000	0.23810|0.23810	2.724000|2.724000	0.47285|0.47285	0.072000|0.072000	0.16694|0.16694	-0.169000|-0.169000	0.13324|0.13324	GCC|ATG	CYP4V2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000145476		0.537	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4V2	HGNC	protein_coding	OTTHUMT00000360398.1	-	0	34	0	G	XM_209612		187130387	1	tier1	-	no_errors	ENST00000378802	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.611	T	T	187130387	G	T	187130387	3	4	8	1	0	0	0	0	1	0	0	0	4201	1319	46	3	1404	3	CYP4V2	4	187130387	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	63465838	187130387	4023889	72	2244											
FAM173B	134145	genome.wustl.edu	37	chr5	10239369	10239369	+	Frame_Shift_Del	DEL	A	A	-																															cacccacaagcccagtaagtAagaacccccagttgcttttc																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:10239369delA	ENST00000511437.1	-	2	128	c.116delT	c.(115-117)ttafs	p.L40fs	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Frame_Shift_Del_p.L40fs|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	40						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CCCAGTAAGTAAGAACCCCCA	0.483																																																	0													102	108	106					5																	10239369		1964	4149	6113	SO:0001589	frameshift_variant	0				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.116delT	5.37:g.10239369delA	ENSP00000422338:p.Leu40fs		B4DT41|B4DXK2|E9PBZ4	Frame_Shift_Del	DEL	NULL	p.L39fs	ENST00000511437.1	37	c.116	CCDS43301.1	5																																																																																			FAM173B	-	NULL	ENSG00000150756		0.483	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM173B	HGNC	protein_coding	OTTHUMT00000366048.2		0	55	0	A	NM_199133		10239369	-1	tier1		no_errors	ENST00000511437	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	0.000	-	-	10239369	A	-	10239369	7	5	8	1	0	1	0	1	0	0	0	0	5513	372	13	0	601	0	FAM173B	5	10239369	Frame_Shift_Del	DEL	A	TCGA-2H-A9GM-01A-11D-A37C-09		10239369	170675891	73	2245											
CDH9	1007	genome.wustl.edu	37	chr5	26988340	26988340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagacccgctatctttttgCttgataaataactgttaggt	10	16	7	8	1	2	2	1	1	1	1	2	2	2	2	1	1	2	3	1	1	5	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:26988340C>A	ENST00000231021.4	-	2	273	c.101G>T	c.(100-102)aGc>aTc	p.S34I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	34					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCTTTTTGCTTGATAAATA	0.388																																					Melanoma(8;187 585 15745 40864 52829)												0													138	137	137					5																	26988340		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.101G>T	5.37:g.26988340C>A	ENSP00000231021:p.Ser34Ile		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S34I	ENST00000231021.4	37	c.101	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	6.599	0.478952	0.12581	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.58358	0.48;0.34;1.87	5.64	0.111	0.14619	.	1.105540	0.06623	N	0.757737	T	0.34658	0.0905	N	0.22421	0.69	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.20672	-1.0268	9	.	.	.	.	5.8522	0.18699	0.0:0.455:0.223:0.3221	.	34;34	E7EPN0;Q9ULB4	.;CADH9_HUMAN	I	34	ENSP00000231021:S34I;ENSP00000426239:S34I;ENSP00000422538:S34I	.	S	-	2	0	CDH9	27024097	0.000000	0.05858	0.005000	0.12908	0.267000	0.26476	-0.779000	0.04659	0.311000	0.23014	0.591000	0.81541	AGC	CDH9	-	NULL	ENSG00000113100		0.388	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	36	0	C	NM_016279		26988340	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.000	A	A	26988340	C	A	26988340	3	1	8	1	0	0	0	0	1	0	0	0	3124	797	28	3	2312	3	CDH9	5	26988340	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	16748971	26988340	153926920	74	2246											
IL6ST	3572	genome.wustl.edu	37	chr5	55236936	55236936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcatgtagccgccttgccGtacagtctgtggtaagtaac	9	10	12	10	2	1	0	0	0	1	0	1	0	1	0	3	2	4	5	3	2	4	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:55236936G>A	ENST00000381298.2	-	17	3043	c.2731C>T	c.(2731-2733)Cgg>Tgg	p.R911W	IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000381294.3_Missense_Mutation_p.R850W|IL6ST_ENST00000336909.5_Missense_Mutation_p.R911W|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.R911W	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	911					ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCGCCTTGCCGTACAGTCTGT	0.438			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													105	90	95					5																	55236936		2203	4300	6503	SO:0001583	missense	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.2731C>T	5.37:g.55236936G>A	ENSP00000370698:p.Arg911Trp		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R911W	ENST00000381298.2	37	c.2731	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138921	0.56936	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.52057	1.04;1.04;0.68	5.73	0.364	0.16124	.	0.143021	0.64402	D	0.000006	T	0.64516	0.2605	M	0.66939	2.045	0.29390	N	0.862668	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.66810	-0.5829	10	0.87932	D	0	.	15.18	0.72947	0.0:0.0:0.5203:0.4797	.	911;850;911	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	W	911;911;850	ENSP00000370698:R911W;ENSP00000338799:R911W;ENSP00000370694:R850W	ENSP00000338799:R911W	R	-	1	2	IL6ST	55272693	0.843000	0.29541	0.156000	0.22583	0.927000	0.56198	0.818000	0.27295	-0.090000	0.12462	-0.474000	0.04947	CGG	IL6ST	-	NULL	ENSG00000134352		0.438	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	-	0	54	0	G	NM_002184		55236936	-1	tier1	-	no_errors	ENST00000336909	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.250	A	A	55236936	G	A	55236936	3	1	8	1	0	0	0	0	1	0	0	0	7730	1144	40	1	29	1	IL6ST	5	55236936	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	28248596	55236936	125678324	75	2247											
FCHO2	115548	genome.wustl.edu	37	chr5	72377780	72377780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtggatggaggagtaacGaacatgcagtcccttccccc	10	7	11	13	1	0	0	0	0	0	0	2	4	2	3	4	3	3	2	4	3	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:72377780G>A	ENST00000430046.2	+	23	2267	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	FCHO2_ENST00000341845.6_Silent_p.T717T|FCHO2_ENST00000512348.1_Silent_p.T684T	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	717	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GAGGAGTAACGAACATGCAGT	0.423																																																	0													166	160	162					5																	72377780		1907	4121	6028	SO:0001819	synonymous_variant	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2151G>A	5.37:g.72377780G>A			A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.T717	ENST00000430046.2	37	c.2151	CCDS47230.1	5																																																																																			FCHO2	-	NULL	ENSG00000157107		0.423	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	-	0	92	0	G	XM_291142		72377780	1	tier1	-	no_errors	ENST00000341845	ensembl	human	known	74_37	silent	52.38	20	22	SNP	0.884	A	A	72377780	G	A	72377780	2	1	8	1	0	0	0	0	0	0	0	1	5810	1045	37	1		1	FCHO2	5	72377780	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	17140844	72377780	108537480	76	2248											
BTF3	689	genome.wustl.edu	37	chr5	72795014	72795014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaactgcaggcacaagtgcGcattggtgggaaagtaagtt	13	8	13	7	1	0	0	0	0	0	0	0	1	0	1	0	3	3	5	0	3	4	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:72795014G>A	ENST00000335895.8	+	2	207	c.56G>A	c.(55-57)cGc>cAc	p.R19H	RP11-79P5.9_ENST00000607001.1_lincRNA|BTF3_ENST00000380591.3_Missense_Mutation_p.R63H|BTF3_ENST00000514505.2_Intron	NM_001207.4	NP_001198.2	O00478	BT3A3_HUMAN	basic transcription factor 3	0					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		GCACAAGTGCGCATTGGTGGG	0.363																																																	0													66	71	69					5																	72795014		2203	4300	6503	SO:0001583	missense	0			M90352	CCDS4019.1, CCDS34185.1	5q13.3	2010-06-17			ENSG00000145741	ENSG00000145741			1125	protein-coding gene	gene with protein product		602542	"nascent-polypeptide-associated complex beta polypeptide"	NACB		2320128, 1386332, 15716105	Standard	NM_001207		Approved	BTF3a, BTF3b	uc003kcr.1	P20290	OTTHUMG00000102031	ENST00000335895.8:c.56G>A	5.37:g.72795014G>A	ENSP00000338516:p.Arg19His		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.R63H	ENST00000335895.8	37	c.188	CCDS4019.1	5	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704067	0.68615	.	.	ENSG00000145741	ENST00000335895;ENST00000380591;ENST00000507081	.	.	.	4.5	4.5	0.54988	.	0.133257	0.51477	N	0.000098	T	0.58878	0.2153	L	0.50847	1.595	0.80722	D	1	B	0.19817	0.039	B	0.12156	0.007	T	0.60193	-0.7311	9	0.59425	D	0.04	-2.1294	17.7347	0.88389	0.0:0.0:1.0:0.0	.	63	P20290	BTF3_HUMAN	H	19;63;19	.	ENSP00000338516:R19H	R	+	2	0	BTF3	72830770	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.567000	0.98161	2.474000	0.83562	0.655000	0.94253	CGC	BTF3	-	NULL	ENSG00000145741		0.363	BTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTF3	HGNC	protein_coding	OTTHUMT00000219815.2	-	0	105	0	G	NM_001207		72795014	1	tier1	-	no_errors	ENST00000380591	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	72795014	G	A	72795014	3	1	8	1	0	0	0	0	1	0	0	0	1555	1087	38	1	194	1	BTF3	5	72795014	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	417234	72795014	108120246	77	2249											
FAM170A	340069	genome.wustl.edu	37	chr5	118969736	118969736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaggagagactcctccccGctcacaacatgtctccttgt	9	9	8	15	2	2	1	1	0	1	1	5	4	4	2	4	1	1	1	4	1	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:118969736G>A	ENST00000515256.1	+	3	465	c.293G>A	c.(292-294)cGc>cAc	p.R98H				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	98					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R98H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTCCTCCCCGCTCACAACAT	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											101	106	105					5																	118969736		1935	4141	6076	SO:0001583	missense	0			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.293G>A	5.37:g.118969736G>A	ENSP00000422684:p.Arg98His		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	NULL	p.R98H	ENST00000515256.1	37	c.293		5	.	.	.	.	.	.	.	.	.	.	G	8.758	0.922949	0.18056	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.29917	1.55;1.55	4.35	-2.1	0.07210	.	2.326850	0.01275	N	0.009541	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B;D;D	0.57571	0.0;0.963;0.98	B;B;P	0.44597	0.001;0.36;0.454	T	0.03818	-1.1001	9	.	.	.	0.2677	1.5766	0.02626	0.236:0.4185:0.1677:0.1778	.	51;98;98	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	H	51;98;98	ENSP00000422684:R98H;ENSP00000423697:R98H	.	R	+	2	0	FAM170A	118997635	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.938000	0.01546	-0.453000	0.07076	-0.826000	0.03091	CGC	FAM170A	-	NULL	ENSG00000164334		0.483	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	FAM170A	HGNC	protein_coding	OTTHUMT00000371126.1		0	76	0	G	NM_182761		118969736	1			no_errors	ENST00000515256	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.000	A	A	118969736	G	A	118969736	3	1	8	1	0	0	0	0	1	0	0	0	5508	1087	38	1	303	1	FAM170A	5	118969736	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	46174722	118969736	61945524	78	2250											
PRR16	51334	genome.wustl.edu	37	chr5	120022198	120022198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtccacttacacagtgaaCctgtccacccaccgggaaag	12	6	9	14	1	0	1	0	1	0	0	2	2	2	2	5	2	2	0	5	2	3	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:120022198C>A	ENST00000407149.2	+	2	918	c.709C>A	c.(709-711)Cct>Act	p.P237T	PRR16_ENST00000505123.1_Missense_Mutation_p.P167T|PRR16_ENST00000446965.1_Missense_Mutation_p.P167T|PRR16_ENST00000379551.2_Missense_Mutation_p.P214T			Q569H4	LARGN_HUMAN	proline rich 16	237	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACACAGTGAACCTGTCCACCC	0.493																																																	0													87	84	85					5																	120022198		2203	4300	6503	SO:0001583	missense	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.709C>A	5.37:g.120022198C>A	ENSP00000385118:p.Pro237Thr		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.P237T	ENST00000407149.2	37	c.709		5	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390858	0.25118	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000505123;ENST00000446965	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.94	3.06	0.35304	.	0.136085	0.51477	N	0.000100	T	0.49575	0.1565	L	0.44542	1.39	0.38733	D	0.953707	D;B	0.71674	0.998;0.005	D;B	0.66351	0.943;0.004	T	0.49204	-0.8964	9	.	.	.	-2.3718	9.534	0.39211	0.1448:0.774:0.0:0.0812	.	237;214	Q569H4;Q569H4-3	PRR16_HUMAN;.	T	237;214;167;167	ENSP00000385118:P237T;ENSP00000368869:P214T;ENSP00000423446:P167T;ENSP00000405491:P167T	.	P	+	1	0	PRR16	120050097	1.000000	0.71417	0.435000	0.26784	0.013000	0.08279	2.892000	0.48625	1.175000	0.42826	0.650000	0.86243	CCT	PRR16	-	NULL	ENSG00000184838		0.493	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0	50	0	C	NM_016644		120022198	1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	120022198	C	A	120022198	3	1	8	1	0	0	0	0	1	0	0	0	12631	507	18	3	646	3	PRR16	5	120022198	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	1052462	120022198	60893062	79	2251											
NME5	8382	genome.wustl.edu	37	chr5	137454539	137454539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtttttgcttacaaagctCtgtgagtccttcaagcagag	9	14	10	8	0	2	2	1	1	1	1	3	2	3	2	1	1	4	4	1	1	3	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:137454539C>T	ENST00000265191.2	-	5	572	c.523G>A	c.(523-525)Gag>Aag	p.E175K	RNU6-460P_ENST00000391158.1_RNA	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	175					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTACAAAGCTCTGTGAGTCCT	0.388																																																	0													72	71	71					5																	137454539		2203	4300	6503	SO:0001583	missense	0			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"radial spoke 23 homolog (Chlamydomonas)"	603575	"non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.523G>A	5.37:g.137454539C>T	ENSP00000265191:p.Glu175Lys		B2R5G7	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase	p.E175K	ENST00000265191.2	37	c.523	CCDS4197.1	5	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258584	0.39896	.	.	ENSG00000112981	ENST00000265191	T	0.56941	0.43	5.82	2.99	0.34606	Dpy-30 motif (1);	0.268520	0.41001	N	0.000980	T	0.58864	0.2152	M	0.91140	3.18	0.38076	D	0.93652	B	0.14805	0.011	B	0.23716	0.048	T	0.56565	-0.7958	10	0.30078	T	0.28	.	9.9342	0.41541	0.0:0.7688:0.0:0.2312	.	175	P56597	NDK5_HUMAN	K	175	ENSP00000265191:E175K	ENSP00000265191:E175K	E	-	1	0	NME5	137482438	0.986000	0.35501	0.976000	0.42696	0.996000	0.88848	2.308000	0.43690	0.327000	0.23409	0.591000	0.81541	GAG	NME5	-	pfam_Dpy-30_motif,pirsf_NDK_H5	ENSG00000112981		0.388	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME5	HGNC	protein_coding	OTTHUMT00000251286.1	-	0	40	0	C	NM_003551		137454539	-1	tier1	-	no_errors	ENST00000265191	ensembl	human	known	74_37	missense	56.67	13	17	SNP	1.000	T	T	137454539	C	T	137454539	3	4	8	1	0	0	0	0	1	0	0	0	10533	922	32	3	123	3	NME5	5	137454539	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	17432341	137454539	43460721	80	2252											
PCDHB8	56128	genome.wustl.edu	37	chr5	140558518	140558518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgatttcttgacaggagaAattcgactaaagaaacaact	16	10	8	7	2	1	3	0	1	1	2	3	6	1	3	0	1	2	0	0	1	5	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:140558518A>C	ENST00000239444.2	+	1	1148	c.903A>C	c.(901-903)gaA>gaC	p.E301D	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAGGAGAAATTCGACTAA	0.403																																																	0													118	175	155					5																	140558518		2203	4300	6503	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.903A>C	5.37:g.140558518A>C	ENSP00000239444:p.Glu301Asp		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E301D	ENST00000239444.2	37	c.903	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	A	7.727	0.698376	0.15106	.	.	ENSG00000120322	ENST00000239444	T	0.50813	0.73	4.25	1.59	0.23543	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45577	0.1349	L	0.58354	1.805	0.26333	N	0.977482	B	0.24317	0.101	B	0.36766	0.232	T	0.47209	-0.9135	9	0.38643	T	0.18	.	5.8024	0.18422	0.5854:0.3281:0.0866:0.0	.	301	Q9UN66	PCDB8_HUMAN	D	301	ENSP00000239444:E301D	ENSP00000239444:E301D	E	+	3	2	PCDHB8	140538702	0.001000	0.12720	0.661000	0.29709	0.142000	0.21351	-0.736000	0.04882	0.480000	0.27534	0.477000	0.44152	GAA	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.403	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	165	0	A	NM_019120		140558518	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	21.43	110	30	SNP	0.994	C	C	140558518	A	C	140558518	3	2	8	1	0	0	0	0	1	0	0	0	11587	11	1	4	905	4	PCDHB8	5	140558518	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	3103979	140558518	40356742	81	2253											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140725370	140725370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggctacctggtgaccaaGgtggtggcggtggacagaga	8	6	17	10	2	0	2	0	1	0	1	0	4	0	3	3	7	1	1	3	7	2	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:140725370G>A	ENST00000253812.6	+	1	1770	c.1770G>A	c.(1768-1770)aaG>aaA	p.K590K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	590	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCAAGGTGGTGGCGG	0.687																																																	0													46	53	51					5																	140725370		2203	4291	6494	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1770G>A	5.37:g.140725370G>A			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K590	ENST00000253812.6	37	c.1770	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254245		0.687	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	165	0	G	NM_018916		140725370	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	silent	43.80	68	53	SNP	1.000	A	A	140725370	G	A	140725370	2	1	8	1	0	0	0	0	0	0	0	1	11594	991	35	3		3	PCDHGA3	5	140725370	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	166852	140725370	40189890	82	2254											
PCDH12	51294	genome.wustl.edu	37	chr5	141335264	141335264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccaggcagatcaccGtcagcatcgacatgctcaag	12	6	10	13	2	3	1	3	0	0	1	4	2	3	1	2	1	4	4	2	1	2	1	rs147575499		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:141335264G>A	ENST00000231484.3	-	1	3363	c.2153C>T	c.(2152-2154)aCg>aTg	p.T718M	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	718					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T718M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGATCACCGTCAGCATCGA	0.562													G|||	1	0.000199681	0	0	5008	,	,		19970	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)						G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	62	51	55		2153	2.7	0.3	5	dbSNP_134	55	0,8600		0,0,4300	yes	missense	PCDH12	NM_016580.2	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	718/1185	141335264	3,13003	2203	4300	6503	SO:0001583	missense	0			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2153C>T	5.37:g.141335264G>A	ENSP00000231484:p.Thr718Met		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T718M	ENST00000231484.3	37	c.2153	CCDS4269.1	5	.	.	.	.	.	.	.	.	.	.	G	0.703	-0.790055	0.02884	6.81E-4	0.0	ENSG00000113555	ENST00000231484	T	0.54071	0.59	5.38	2.7	0.31948	.	0.525769	0.22027	N	0.065647	T	0.33644	0.0870	N	0.20685	0.6	0.09310	N	0.999991	B	0.13594	0.008	B	0.04013	0.001	T	0.21552	-1.0242	10	0.52906	T	0.07	.	7.1686	0.25706	0.3401:0.0:0.6599:0.0	.	718	Q9NPG4	PCD12_HUMAN	M	718	ENSP00000231484:T718M	ENSP00000231484:T718M	T	-	2	0	PCDH12	141315448	0.061000	0.20836	0.287000	0.24848	0.016000	0.09150	1.404000	0.34623	0.433000	0.26313	-0.137000	0.14449	ACG	PCDH12	-	NULL	ENSG00000113555		0.562	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1		0	28	0	G	NM_016580		141335264	-1			no_errors	ENST00000231484	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.493	A	A	141335264	G	A	141335264	3	1	8	1	0	0	0	0	1	0	0	0	11549	1145	40	1	1417	1	PCDH12	5	141335264	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	609894	141335264	39579996	83	2255											
FAT2	2196	genome.wustl.edu	37	chr5	150900870	150900870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctctgcaggtggtgccGcggggttaggatgctgagcc	4	9	17	11	2	1	1	0	1	1	0	2	2	2	2	3	5	4	4	3	5	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:150900870G>A	ENST00000261800.5	-	18	11296	c.11284C>T	c.(11284-11286)Cgg>Tgg	p.R3762W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3762					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGGTGCCGCGGGGTTAGG	0.607																																																	0													62	56	58					5																	150900870		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11284C>T	5.37:g.150900870G>A	ENSP00000261800:p.Arg3762Trp		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3762W	ENST00000261800.5	37	c.11284	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.67|13.67	2.305303|2.305303	0.40795|0.40795	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.52295	.|0.67	5.99|5.99	1.65|1.65	0.23941|0.23941	.|Concanavalin A-like lectin/glucanase, subgroup (1);	.|0.121842	.|0.36444	.|N	.|0.002588	T|T	0.61413|0.61413	0.2345|0.2345	M|M	0.73217|0.73217	2.22|2.22	0.09310|0.09310	N|N	0.999996|0.999996	.|D;D	.|0.89917	.|0.997;1.0	.|P;P	.|0.56434	.|0.798;0.798	T|T	0.62955|0.62955	-0.6744|-0.6744	5|10	.|0.66056	.|D	.|0.02	.|.	16.8995|16.8995	0.86109|0.86109	0.0:0.0:0.4665:0.5335|0.0:0.0:0.4665:0.5335	.|.	.|3762;953	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	V|W	620|3762	.|ENSP00000261800:R3762W	.|ENSP00000261800:R3762W	A|R	-|-	2|1	0|2	FAT2|FAT2	150881063|150881063	0.966000|0.966000	0.33281|0.33281	0.454000|0.454000	0.27019|0.27019	0.299000|0.299000	0.27559|0.27559	2.427000|2.427000	0.44740|0.44740	0.389000|0.389000	0.25086|0.25086	-0.169000|-0.169000	0.13324|0.13324	GCG|CGG	FAT2	-	NULL	ENSG00000086570		0.607	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	28	0	G	NM_001447		150900870	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	69.57	7	16	SNP	0.047	A	A	150900870	G	A	150900870	3	1	8	1	0	0	0	0	1	0	0	0	5712	1086	38	1	1789	1	FAT2	5	150900870	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	9565606	150900870	30014390	84	2256											
GABRB2	2561	genome.wustl.edu	37	chr5	160721287	160721287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcggccaaaactatgcctgGgcaacccagctttccgatac	10	9	8	14	2	0	0	0	0	0	0	2	1	1	0	4	2	5	2	4	2	5	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:160721287G>A	ENST00000393959.1	-	10	1339	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L	GABRB2_ENST00000274547.2_Missense_Mutation_p.P447L|GABRB2_ENST00000520240.1_Missense_Mutation_p.P409L|GABRB2_ENST00000517901.1_Missense_Mutation_p.P346L|GABRB2_ENST00000353437.6_Missense_Mutation_p.P409L|GABRB2_ENST00000517547.1_Missense_Mutation_p.P249L			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	447					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACTATGCCTGGGCAACCCAGC	0.537																																																	0													106	94	98					5																	160721287		2203	4300	6503	SO:0001583	missense	0				CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4082	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 2"	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.1340C>T	5.37:g.160721287G>A	ENSP00000377531:p.Pro447Leu		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	p.P447L	ENST00000393959.1	37	c.1340	CCDS4355.1	5	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070391	0.55539	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.0;-2.0;-2.0;-2.0	5.49	4.6	0.57074	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.450751	0.25631	N	0.029347	T	0.78253	0.4254	N	0.16307	0.4	0.58432	D	0.999996	B;B;B;B	0.24186	0.017;0.007;0.099;0.003	B;B;B;B	0.32762	0.042;0.035;0.152;0.023	T	0.73228	-0.4049	10	0.37606	T	0.19	.	16.1538	0.81644	0.0:0.1338:0.8662:0.0	.	249;346;447;409	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	L	447;447;409;409;346;249	ENSP00000377531:P447L;ENSP00000274547:P447L;ENSP00000274546:P409L;ENSP00000429320:P409L;ENSP00000430532:P346L;ENSP00000429750:P249L	ENSP00000274547:P447L	P	-	2	0	GABRB2	160653865	1.000000	0.71417	0.983000	0.44433	0.925000	0.55904	7.751000	0.85126	1.271000	0.44313	0.650000	0.86243	CCC	GABRB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000145864		0.537	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB2	HGNC	protein_coding	OTTHUMT00000252704.1		0	36	0	G			160721287	-1			no_errors	ENST00000274547	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	160721287	G	A	160721287	3	1	8	1	0	0	0	0	1	0	0	0	6191	1232	43	3	202	3	GABRB2	5	160721287	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	9820417	160721287	20193973	85	2257											
RARS	5917	genome.wustl.edu	37	chr5	167946086	167946086	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttttttctatcttttcagGaaaaatattgaaggtgaaca	14	16	6	5	0	3	2	1	2	2	0	3	3	3	3	0	2	1	0	0	2	6	8			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:167946086G>T	ENST00000231572.3	+	15	1928	c.1874G>T	c.(1873-1875)gGa>gTa	p.G625V	RARS_ENST00000538719.1_Splice_Site_p.G419V	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	625					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ATCTTTTCAGGAAAAATATTG	0.338																																																	0													61	60	61					5																	167946086		2203	4300	6503	SO:0001630	splice_region_variant	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1874-1G>T	5.37:g.167946086G>T			B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.G625V	ENST00000231572.3	37	c.1874	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.100230	0.94245	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.75704	-0.96;-0.96	5.6	5.6	0.85130	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);DALR anticodon binding (2);	0.000000	0.85682	D	0.000000	D	0.88507	0.6455	M	0.88570	2.965	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.89629	0.3854	9	.	.	.	.	18.3776	0.90440	0.0:0.0:1.0:0.0	.	625	P54136	SYRC_HUMAN	V	625;419	ENSP00000231572:G625V;ENSP00000439108:G419V	.	G	+	2	0	RARS	167878664	1.000000	0.71417	0.951000	0.38953	0.515000	0.34225	9.444000	0.97578	2.620000	0.88729	0.655000	0.94253	GGA	RARS	-	pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd,tigrfam_Arg-tRNA-ligase_Ia	ENSG00000113643		0.338	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	-	0	53	0	G	NM_002887	Missense_Mutation	167946086	1	tier1	-	no_errors	ENST00000231572	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	167946086	G	T	167946086	5	4	8	1	0	0	0	0	0	0	1	0	13103	1188	41	3	1932	3	RARS	5	167946086	Splice_Site	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	7224799	167946086	12969174	86	2258											
RUFY1	80230	genome.wustl.edu	37	chr5	178987059	178987059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgatggaggagcgtgccaAcctgatgcacatgatgaaac	13	7	13	8	1	0	4	0	4	0	0	0	7	0	6	2	2	5	1	2	2	2	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr5:178987059A>T	ENST00000319449.4	+	2	356	c.344A>T	c.(343-345)aAc>aTc	p.N115I	RUFY1_ENST00000393438.2_Missense_Mutation_p.N7I|RUFY1_ENST00000437570.2_Missense_Mutation_p.N7I|RUFY1_ENST00000377001.2_Missense_Mutation_p.N115I	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	115					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGTGCCAACCTGATGCAC	0.597										HNSCC(44;0.11)																																							0													85	62	70					5																	178987059		2203	4300	6503	SO:0001583	missense	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.344A>T	5.37:g.178987059A>T	ENSP00000325594:p.Asn115Ile		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.N115I	ENST00000319449.4	37	c.344	CCDS4445.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.821344|4.821344	0.90873|0.90873	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438|ENST00000502984	T;T;T;T|.	0.12774|.	2.65;2.65;2.65;2.65|.	5.56|5.56	4.41|4.41	0.53225|0.53225	.|.	0.042391|.	0.85682|.	D|.	0.000000|.	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999996|0.999996	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.73949|0.73949	-0.3821|-0.3821	10|5	0.87932|.	D|.	0|.	-21.8491|-21.8491	11.2564|11.2564	0.49056|0.49056	0.9286:0.0:0.0714:0.0|0.9286:0.0:0.0714:0.0	.|.	115|.	Q96T51|.	RUFY1_HUMAN|.	I|S	115;115;7;7|73	ENSP00000325594:N115I;ENSP00000366200:N115I;ENSP00000390025:N7I;ENSP00000377087:N7I|.	ENSP00000325594:N115I|.	N|T	+|+	2|1	0|0	RUFY1|RUFY1	178919665|178919665	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.987000|0.987000	0.75469|0.75469	6.190000|6.190000	0.72057|0.72057	0.966000|0.966000	0.38159|0.38159	0.459000|0.459000	0.35465|0.35465	AAC|ACC	RUFY1	-	NULL	ENSG00000176783		0.597	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2	-	0	41	0	A	NM_001040451		178987059	1	tier1	-	no_errors	ENST00000319449	ensembl	human	known	74_37	missense	67.35	16	33	SNP	1.000	T	T	178987059	A	T	178987059	3	4	8	1	0	0	0	0	1	0	0	0	13783	43	2	5	350	5	RUFY1	5	178987059	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	11040973	178987059	1928201	87	2259											
SERPINB1	1992	genome.wustl.edu	37	chr6	2833852	2833852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctttcttctaaggggaaGaaaatctccccaagaatagg	13	11	8	9	0	4	2	0	0	4	2	6	3	4	3	2	3	0	0	2	3	7	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:2833852G>A	ENST00000380739.5	-	7	1332	c.1130C>T	c.(1129-1131)tCt>tTt	p.S377F	SERPINB1_ENST00000476896.1_5'Flank|SERPINB1_ENST00000537185.1_Missense_Mutation_p.S226F	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	377					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CTAAGGGGAAGAAAATCTCCC	0.373																																																	0													54	56	55					6																	2833852		2203	4300	6503	SO:0001583	missense	0			M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"Serine (or cysteine) peptidase inhibitors"	3311	protein-coding gene	gene with protein product		130135	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.1130C>T	6.37:g.2833852G>A	ENSP00000370115:p.Ser377Phe		A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S377F	ENST00000380739.5	37	c.1130	CCDS4477.1	6	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428361	0.62844	.	.	ENSG00000021355	ENST00000380739;ENST00000542771;ENST00000537185	D;D	0.84442	-1.85;-1.85	5.69	1.78	0.24846	Serpin domain (3);	0.517070	0.22175	N	0.063591	D	0.84991	0.5595	M	0.68593	2.085	0.09310	N	1	D	0.63880	0.993	D	0.65987	0.94	T	0.79082	-0.1949	10	0.62326	D	0.03	.	11.1963	0.48715	0.0687:0.3906:0.5407:0.0	.	377	P30740	ILEU_HUMAN	F	377;339;226	ENSP00000370115:S377F;ENSP00000444543:S226F	ENSP00000370115:S377F	S	-	2	0	SERPINB1	2778851	0.282000	0.24268	0.013000	0.15412	0.240000	0.25518	1.747000	0.38298	0.099000	0.17552	0.650000	0.86243	TCT	SERPINB1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000021355		0.373	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB1	HGNC	protein_coding	OTTHUMT00000039637.1		0	42	0	G			2833852	-1			no_errors	ENST00000380739	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.033	A	A	2833852	G	A	2833852	3	1	8	1	0	0	0	0	1	0	0	0	14141	942	33	3	13	3	SERPINB1	6	2833852	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		2833852	168281215	88	2260											
RREB1	6239	genome.wustl.edu	37	chr6	7230280	7230280	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgccgcttctgcaacCaggtgtttgccttctcgggg	4	11	11	15	2	2	0	0	0	2	0	3	0	2	0	5	3	4	3	5	3	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:7230280C>T	ENST00000349384.6	+	10	2262	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q650*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q650*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q650*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	650					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCTGCAACCAGGTGTTTGC	0.632																																																	0													35	34	35					6																	7230280		2202	4300	6502	SO:0001587	stop_gained	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1948C>T	6.37:g.7230280C>T	ENSP00000305560:p.Gln650*		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q650*	ENST00000349384.6	37	c.1948	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	C	39	7.591937	0.98378	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.13	5.13	0.70059	.	0.000000	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-53.4314	18.7851	0.91951	0.0:1.0:0.0:0.0	.	.	.	.	X	650	.	ENSP00000335574:Q650X	Q	+	1	0	RREB1	7175279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.809000	0.47971	2.648000	0.89879	0.655000	0.94253	CAG	RREB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124782		0.632	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	-	0	62	0	C			7230280	1	tier1	-	no_errors	ENST00000379938	ensembl	human	known	74_37	nonsense	57.14	12	16	SNP	1.000	T	T	7230280	C	T	7230280	4	4	8	1	0	0	0	0	0	1	0	0	13724	595	21	3	1974	3	RREB1	6	7230280	Nonsense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4396428	7230280	163884787	89	2261											
JARID2	3720	genome.wustl.edu	37	chr6	15468930	15468930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaaggaaaaacccacaaAcatgttcacaacgggcatgg	18	4	10	9	1	1	0	1	0	0	0	1	2	1	2	1	4	3	2	1	4	5	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:15468930A>T	ENST00000341776.2	+	5	895	c.651A>T	c.(649-651)aaA>aaT	p.K217N	JARID2_ENST00000541660.1_Missense_Mutation_p.K179N|JARID2_ENST00000397311.3_Missense_Mutation_p.K45N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	217					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K217fs*90(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AAACCCACAAACATGTTCACA	0.473																																																	1	Deletion - Frameshift(1)	prostate(1)											124	104	111					6																	15468930		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.651A>T	6.37:g.15468930A>T	ENSP00000341280:p.Lys217Asn		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.K217N	ENST00000341776.2	37	c.651	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	A	14.55	2.569053	0.45798	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.36157	1.27;1.27;1.27	4.8	-2.08	0.07254	.	0.171329	0.51477	D	0.000095	T	0.26955	0.0660	L	0.29908	0.895	0.33371	D	0.573631	D;D;D	0.76494	0.993;0.999;0.979	D;D;P	0.68943	0.91;0.961;0.702	T	0.17868	-1.0355	10	0.44086	T	0.13	-10.4429	12.5089	0.55997	0.4911:0.0:0.5089:0.0	.	179;81;217	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	N	81;217;45;179	ENSP00000341280:K217N;ENSP00000380478:K45N;ENSP00000444623:K179N	ENSP00000341280:K217N	K	+	3	2	JARID2	15576909	1.000000	0.71417	0.970000	0.41538	0.888000	0.51559	0.623000	0.24447	-0.340000	0.08388	-0.924000	0.02725	AAA	JARID2	-	NULL	ENSG00000008083		0.473	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1		0	58	0	A	NM_004973		15468930	1			no_errors	ENST00000341776	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.958	T	T	15468930	A	T	15468930	3	4	8	1	0	0	0	0	1	0	0	0	7972	40	2	5	669	5	JARID2	6	15468930	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	8238650	15468930	155646137	90	2262											
C6orf1	221491	genome.wustl.edu	37	chr6	34214625	34214625	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcttgtgctggtagccActctgccagccatgtaccac	7	10	9	15	1	1	0	0	0	1	0	2	0	2	0	5	1	5	4	5	1	2	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:34214625A>T	ENST00000476320.1	-	5	828	c.146T>A	c.(145-147)gTg>gAg	p.V49E	C6orf1_ENST00000468145.1_Missense_Mutation_p.V49E|C6orf1_ENST00000394990.4_Missense_Mutation_p.V49E|C6orf1_ENST00000335352.3_Missense_Mutation_p.V29E|C6orf1_ENST00000413013.2_Missense_Mutation_p.V29E|C6orf1_ENST00000481533.1_Missense_Mutation_p.V49E	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	49						extracellular region (GO:0005576)				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		GCTGGTAGCCACTCTGCCAGC	0.632											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													19	20	20					6																	34214625		2171	4237	6408	SO:0001583	missense	0			AY062936	CCDS4790.1, CCDS75433.1	6p21.3	2011-12-12			ENSG00000186577	ENSG00000186577			1340	protein-coding gene	gene with protein product		611419				10036196	Standard	NM_178508		Approved	LBH, MGC57858	uc003ojh.3	Q86T20	OTTHUMG00000159754	ENST00000476320.1:c.146T>A	6.37:g.34214625A>T	ENSP00000417604:p.Val49Glu	846	A8K299	Missense_Mutation	SNP	NULL	p.V49E	ENST00000476320.1	37	c.146	CCDS4790.1	6	.	.	.	.	.	.	.	.	.	.	A	15.86	2.958079	0.53400	.	.	ENSG00000186577	ENST00000476320;ENST00000335352;ENST00000394990;ENST00000481533;ENST00000413013;ENST00000468145	T;T;T;T;T;T	0.37058	1.23;1.22;1.23;1.23;1.22;1.23	4.88	-2.74	0.05932	.	0.654486	0.11690	N	0.538964	T	0.07324	0.0185	N	0.14661	0.345	0.30001	N	0.816028	P	0.37101	0.582	B	0.36464	0.225	T	0.17592	-1.0364	10	0.62326	D	0.03	-0.2407	5.6375	0.17544	0.3432:0.0:0.4985:0.1583	.	49	Q86T20	CF001_HUMAN	E	49;29;49;49;29;49	ENSP00000417604:V49E;ENSP00000334260:V29E;ENSP00000378441:V49E;ENSP00000418062:V49E;ENSP00000387460:V29E;ENSP00000418884:V49E	ENSP00000334260:V29E	V	-	2	0	C6orf1	34322603	0.534000	0.26362	0.961000	0.40146	0.978000	0.69477	-0.185000	0.09684	-0.308000	0.08792	-0.375000	0.07067	GTG	C6orf1	-	NULL	ENSG00000186577		0.632	C6orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf1	HGNC	protein_coding	OTTHUMT00000357175.1	-	0	33	0	A	NM_178508		34214625	-1	tier1	-	no_errors	ENST00000394990	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.835	T	T	34214625	A	T	34214625	3	4	8	1	0	0	0	0	1	0	0	0	2323	159	6	5	337	5	C6orf1	6	34214625	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	18745695	34214625	136900442	91	2263											
SLC35B2	347734	genome.wustl.edu	37	chr6	44224561	44224561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccggaggggcttcgggagtCtccccacctgcccctaggga	5	7	14	15	2	1	0	0	0	1	0	4	3	2	3	6	5	1	1	6	5	1	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:44224561C>G	ENST00000393812.3	-	2	209	c.66G>C	c.(64-66)gaG>gaC	p.E22D	SLC35B2_ENST00000393810.1_Missense_Mutation_p.E22D|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	22					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTTCGGGAGTCTCCCCACCTG	0.592																																																	0													70	76	74					6																	44224561		2203	4300	6503	SO:0001583	missense	0			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"Solute carriers"	16872	protein-coding gene	gene with protein product		610788	"solute carrier family 35, member B2"				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.66G>C	6.37:g.44224561C>G	ENSP00000377401:p.Glu22Asp		B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	pfam_UAA,pfam_DMT	p.E22D	ENST00000393812.3	37	c.66	CCDS34462.1	6	.	.	.	.	.	.	.	.	.	.	c	11.31	1.601812	0.28534	.	.	ENSG00000157593	ENST00000393810;ENST00000393812;ENST00000341553	T	0.31769	1.48	3.58	1.75	0.24633	.	0.322570	0.28247	N	0.016046	T	0.05547	0.0146	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23440	-1.0188	10	0.26408	T	0.33	-27.694	1.4821	0.02439	0.1559:0.4449:0.1526:0.2466	.	22	Q8TB61	S35B2_HUMAN	D	22	ENSP00000377401:E22D	ENSP00000342455:E22D	E	-	3	2	SLC35B2	44332539	0.008000	0.16893	0.732000	0.30844	0.719000	0.41307	0.135000	0.15952	0.205000	0.20568	0.561000	0.74099	GAG	SLC35B2	-	NULL	ENSG00000157593		0.592	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B2	HGNC	protein_coding	OTTHUMT00000040724.2	-	0	86	0	C			44224561	-1	tier1	-	no_errors	ENST00000393812	ensembl	human	known	74_37	missense	11.59	206	27	SNP	0.060	G	G	44224561	C	G	44224561	3	3	8	1	0	0	0	0	1	0	0	0	14621	912	32	5	1244	5	SLC35B2	6	44224561	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	10009936	44224561	126890506	92	2264											
CRISP3	10321	genome.wustl.edu	37	chr6	49700907	49700907	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgctaaaatatatacttaCgcaggacaatattggcaaac	18	9	6	8	2	0	0	0	0	0	0	0	1	0	1	0	2	4	3	0	2	10	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:49700907C>T	ENST00000393666.1	-	5	528		c.e5+1		CRISP3_ENST00000423399.2_Splice_Site|CRISP3_ENST00000371159.4_Splice_Site|CRISP3_ENST00000263045.4_Splice_Site|CRISP3_ENST00000433368.2_Splice_Site			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3						defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATATACTTACGCAGGACAAT	0.299																																																	2	Unknown(2)	lung(1)|kidney(1)											103	107	106					6																	49700907		2203	4298	6501	SO:0001630	splice_region_variant	0			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.521+1G>A	6.37:g.49700907C>T			A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Splice_Site	SNP	-	e6+1	ENST00000393666.1	37	c.590+1		6	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763998	0.49574	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3304	0.66553	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP3	49808866	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	3.148000	0.50647	2.526000	0.85167	0.561000	0.74099	.	CRISP3	-	-	ENSG00000096006		0.299	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	HGNC	protein_coding		-	0	56	0	C	NM_006061	Intron	49700907	-1	tier1	-	no_errors	ENST00000433368	ensembl	human	known	74_37	splice_site	32.08	36	17	SNP	1.000	T	T	49700907	C	T	49700907	5	4	8	1	0	0	0	0	0	0	1	0	3888	550	19	1	227	1	CRISP3	6	49700907	Splice_Site	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	5476346	49700907	121414160	93	2265											
PKHD1	5314	genome.wustl.edu	37	chr6	51524568	51524568	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtagacactgacccagaAgtagagcagggaatattggc	16	6	12	7	0	0	4	0	1	0	3	0	5	0	5	1	2	1	3	1	2	6	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:51524568A>C	ENST00000371117.3	-	61	10631	c.10356T>G	c.(10354-10356)acT>acG	p.T3452T		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3452					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGACCCAGAAGTAGAGCAGG	0.393																																																	0													105	102	103					6																	51524568		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10356T>G	6.37:g.51524568A>C			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.T3452	ENST00000371117.3	37	c.10356	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.393	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0	55	0	A	NM_138694		51524568	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	41.30	27	19	SNP	0.000	C	C	51524568	A	C	51524568	2	2	8	1	0	0	0	0	0	0	0	1	12010	59	3	4		4	PKHD1	6	51524568	Silent	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	1823661	51524568	119590499	94	2266											
PRIM2	5558	genome.wustl.edu	37	chr6	57467188	57467188	+	3'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattctatccaatccaccaAgccaaggggattatcatggt	12	12	7	10	0	2	0	1	0	1	0	4	1	4	1	4	3	1	0	4	3	6	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:57467188A>C	ENST00000389488.2	+	0	1216				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CAATCCACCAAGCCAAGGGGA	0.438																																																	0													131	124	127					6																	57467188		1986	4183	6169	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1213A>C	6.37:g.57467188A>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.438	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0	169	0	A	NM_000947		57467188	1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	14.91	137	24	SNP	0.819	C	C	57467188	A	C	57467188	1	2	8	0	1	0	0	0	0	0	0	0	12533	72	3	4		4	PRIM2	6	57467188	3'UTR	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	5942620	57467188	113647879	95	2267											
C6orf168	84553	genome.wustl.edu	37	chr6	99729193	99729193	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagtaaaagctaaaatcCagcagcggggtgtgggtttt	11	11	13	6	1	0	1	0	1	0	0	1	1	1	1	1	3	3	4	1	3	4	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:99729193C>A	ENST00000389677.5	-	6	1359	c.1077G>T	c.(1075-1077)ctG>ctT	p.L359L	FAXC_ENST00000538471.1_Silent_p.L79L|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	359						integral component of membrane (GO:0016021)											AGCTAAAATCCAGCAGCGGGG	0.473																																																	0													100	99	99					6																	99729193		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1077G>T	6.37:g.99729193C>A			B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Silent	SNP	superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.L359	ENST00000389677.5	37	c.1077	CCDS34500.1	6																																																																																			FAXC	-	NULL	ENSG00000146267		0.473	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	HGNC	protein_coding	OTTHUMT00000041589.4	-	0	38	0	C	NM_032511		99729193	-1	tier1	-	no_errors	ENST00000389677	ensembl	human	known	74_37	silent	15.91	37	7	SNP	1.000	A	A	99729193	C	A	99729193	2	1	8	1	0	0	0	0	0	0	0	1	2350	581	21	3		3	C6orf168	6	99729193	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	42262005	99729193	71385874	96	2268											
WASF1	8936	genome.wustl.edu	37	chr6	110429852	110429852	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaattgtagaacttcggaAagctttcctcattgttatat	11	17	7	6	1	1	2	1	1	0	1	3	3	2	3	1	1	2	3	1	1	6	8			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:110429852A>C	ENST00000392589.1	-	6	1137	c.301T>G	c.(301-303)Ttc>Gtc	p.F101V	WASF1_ENST00000392587.2_Missense_Mutation_p.F101V|WASF1_ENST00000359451.2_Missense_Mutation_p.F101V|WASF1_ENST00000392588.1_Missense_Mutation_p.F101V|WASF1_ENST00000392586.1_Missense_Mutation_p.F101V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	101					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GAACTTCGGAAAGCTTTCCTC	0.353																																																	0													79	73	75					6																	110429852		2203	4300	6503	SO:0001583	missense	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.301T>G	6.37:g.110429852A>C	ENSP00000376368:p.Phe101Val		E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.F101V	ENST00000392589.1	37	c.301	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306481	0.81247	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451;ENST00000444391;ENST00000265601;ENST00000368938	T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.82019	0.4946	M	0.89095	3.005	0.58432	D	0.999999	D	0.65815	0.995	D	0.73708	0.981	D	0.85596	0.1249	10	0.72032	D	0.01	.	16.4534	0.84003	1.0:0.0:0.0:0.0	.	101	Q92558	WASF1_HUMAN	V	101	ENSP00000376365:F101V;ENSP00000376366:F101V;ENSP00000376368:F101V;ENSP00000376367:F101V;ENSP00000352425:F101V;ENSP00000407041:F101V;ENSP00000265601:F101V;ENSP00000357934:F101V	ENSP00000265601:F101V	F	-	1	0	WASF1	110536545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.285000	0.76669	0.477000	0.44152	TTC	WASF1	-	NULL	ENSG00000112290		0.353	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	-	0	58	0	A	NM_003931		110429852	-1	tier1	-	no_errors	ENST00000359451	ensembl	human	known	74_37	missense	20.83	38	10	SNP	1.000	C	C	110429852	A	C	110429852	3	2	8	1	0	0	0	0	1	0	0	0	17301	14	1	4	1402	4	WASF1	6	110429852	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	10700659	110429852	60685215	97	2269											
ENPP3	5169	genome.wustl.edu	37	chr6	131973681	131973681	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattgtatcgttttacaGctcgaatatggatgtgcaat	11	15	9	6	2	0	1	0	1	0	0	2	3	0	2	0	1	3	4	0	1	6	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:131973681G>T	ENST00000414305.1	+	5	605		c.e5-1		ENPP3_ENST00000358229.5_Splice_Site|ENPP3_ENST00000470930.1_Splice_Site|ENPP3_ENST00000543135.1_Splice_Site|ENPP3_ENST00000427148.2_Splice_Site|ENPP3_ENST00000357639.3_Splice_Site			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3						immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCGTTTTACAGCTCGAATATG	0.343																																																	0													129	126	127					6																	131973681		2203	4300	6503	SO:0001630	splice_region_variant	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.278-1G>T	6.37:g.131973681G>T			Q5JTL3	Splice_Site	SNP	-	e4-1	ENST00000414305.1	37	c.278-1	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129910	0.21041	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3803	0.83458	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ENPP3	132015374	1.000000	0.71417	0.983000	0.44433	0.031000	0.12232	6.213000	0.72194	2.597000	0.87782	0.650000	0.86243	.	ENPP3	-	-	ENSG00000154269		0.343	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	-	0	79	0	G		Intron	131973681	1	tier1	-	no_errors	ENST00000357639	ensembl	human	known	74_37	splice_site	6.67	56	4	SNP	1.000	T	T	131973681	G	T	131973681	5	4	8	1	0	0	0	0	0	0	1	0	5147	985	34	3	291	3	ENPP3	6	131973681	Splice_Site	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	21543829	131973681	39141386	98	2270											
SERAC1	84947	genome.wustl.edu	37	chr6	158535893	158535893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagagtattcagccaaacGtgatccatgatgagggacac	15	7	10	9	1	1	4	1	3	0	1	2	5	2	5	2	1	3	1	2	1	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:158535893G>T	ENST00000367104.3	-	15	1743	c.1612C>A	c.(1612-1614)Cgt>Agt	p.R538S	SERAC1_ENST00000367102.2_3'UTR|SERAC1_ENST00000367101.1_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	538					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCAGCCAAACGTGATCCATGA	0.383																																																	0													188	190	189					6																	158535893		2203	4300	6503	SO:0001583	missense	0			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1612C>A	6.37:g.158535893G>T	ENSP00000356071:p.Arg538Ser		Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	pfam_PGAP1-like,superfamily_ARM-type_fold	p.R538S	ENST00000367104.3	37	c.1612	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	.	7.048	0.563884	0.13498	.	.	ENSG00000122335	ENST00000367104;ENST00000435180	D;D	0.85339	-1.97;-1.97	6.08	5.21	0.72293	.	0.607852	0.19487	N	0.113077	T	0.42086	0.1187	N	0.01209	-0.955	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.22277	-1.0221	10	0.07482	T	0.82	-5.92	15.2563	0.73588	0.0668:0.0:0.9332:0.0	.	538	Q96JX3	SRAC1_HUMAN	S	538;113	ENSP00000356071:R538S;ENSP00000391168:R113S	ENSP00000356071:R538S	R	-	1	0	SERAC1	158455881	1.000000	0.71417	0.024000	0.17045	0.984000	0.73092	7.277000	0.78572	-0.537000	0.06290	0.533000	0.62120	CGT	SERAC1	-	pfam_PGAP1-like	ENSG00000122335		0.383	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	HGNC	protein_coding	OTTHUMT00000042862.1	-	0	77	0	G	NM_032861		158535893	-1	tier1	-	no_errors	ENST00000367104	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.980	T	T	158535893	G	T	158535893	3	4	8	1	0	0	0	0	1	0	0	0	14119	1145	40	2	364	2	SERAC1	6	158535893	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	26562212	158535893	12579174	99	2271											
PDE10A	10846	genome.wustl.edu	37	chr6	165827032	165827032	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaaaagacggcaaacattTtgaagttgttttcatctgtt	13	14	7	7	1	2	2	1	1	1	1	2	2	2	2	0	1	1	4	0	1	4	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr6:165827032T>A	ENST00000366882.1	-	14	1359	c.1205A>T	c.(1204-1206)aAa>aTa	p.K402I	PDE10A_ENST00000354448.4_Missense_Mutation_p.K402I|PDE10A_ENST00000539869.2_Missense_Mutation_p.K412I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	402	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GGCAAACATTTTGAAGTTGTT	0.383																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													105	98	101					6																	165827032		2203	4300	6503	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1205A>T	6.37:g.165827032T>A	ENSP00000355847:p.Lys402Ile		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.K412I	ENST00000366882.1	37	c.1235		6	.	.	.	.	.	.	.	.	.	.	T	31	5.102659	0.94245	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.68025	-0.3;-0.3	5.63	5.63	0.86233	GAF (2);	0.000000	0.85682	D	0.000000	T	0.65873	0.2733	N	0.20881	0.62	0.80722	D	1	D;P	0.89917	1.0;0.916	D;P	0.91635	0.999;0.827	T	0.73588	-0.3935	10	0.87932	D	0	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	412;402	Q9ULW9;Q9Y233	.;PDE10_HUMAN	I	402;430;412;402;401	ENSP00000355847:K402I;ENSP00000346435:K402I	ENSP00000341187:K412I	K	-	2	0	PDE10A	165747022	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.537000	0.82033	2.145000	0.66743	0.533000	0.62120	AAA	PDE10A	-	pfam_GAF,smart_GAF	ENSG00000112541		0.383	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	-	0	62	0	T			165827032	-1	tier1	-	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	A	A	165827032	T	A	165827032	3	1	8	1	0	0	0	0	1	0	0	0	11669	1841	64	5	1174	5	PDE10A	6	165827032	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	7291139	165827032	5288035	100	2272											
DAGLB	221955	genome.wustl.edu	37	chr7	6452617	6452617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaatcacatccttcccCaggacgagtgacacgatgaa	12	7	10	12	2	1	2	1	2	0	0	3	6	3	4	3	2	0	0	3	2	2	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:6452617C>T	ENST00000297056.6	-	12	1645	c.1476G>A	c.(1474-1476)ctG>ctA	p.L492L	DAGLB_ENST00000436575.1_Silent_p.L451L|DAGLB_ENST00000428902.2_Missense_Mutation_p.G352R|DAGLB_ENST00000425398.2_Silent_p.L363L|DAGLB_ENST00000421761.2_Intron	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	492					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CATCCTTCCCCAGGACGAGTG	0.547																																																	0													63	59	60					7																	6452617		2203	4300	6503	SO:0001819	synonymous_variant	0			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1476G>A	7.37:g.6452617C>T			A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	pfam_Lipase_3	p.G352R	ENST00000297056.6	37	c.1054	CCDS5350.1	7	.	.	.	.	.	.	.	.	.	.	C	9.633	1.136931	0.21123	.	.	ENSG00000164535	ENST00000428902	.	.	.	5.52	-11.0	0.00169	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33752	-0.9856	5	0.21014	T	0.42	-7.5718	1.5254	0.02524	0.2862:0.4562:0.1271:0.1304	.	.	.	.	R	352	.	ENSP00000416046:G352R	G	-	1	0	DAGLB	6419142	0.006000	0.16342	0.044000	0.18714	0.253000	0.25986	-1.082000	0.03400	-2.343000	0.00623	-0.345000	0.07892	GGG	DAGLB	-	NULL	ENSG00000164535		0.547	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2		0	39	0	C	NM_139179		6452617	-1			no_errors	ENST00000428902	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.547	T	T	6452617	C	T	6452617	2	4	8	1	0	0	0	0	0	0	0	1	4236	581	21	3		3	DAGLB	7	6452617	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09		6452617	152686046	101	2273											
HOXA1	3198	genome.wustl.edu	37	chr7	27135319	27135319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggctgggggtggcgatgGtggtggtggtggtggtggtg	1	10	26	4	2	0	0	0	0	0	0	0	1	0	0	1	11	0	1	1	11	0	0	rs2074398		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:27135319G>A	ENST00000343060.4	-	1	274	c.213C>T	c.(211-213)caC>caT	p.H71H	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOXA1_ENST00000355633.5_Silent_p.H71H|HOTAIRM1_ENST00000425358.2_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.				abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggtggcgatggtggtggtggt	0.642											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													37	40	39					7																	27135319		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.213C>T	7.37:g.27135319G>A		792	A4D184|B2R8U7|O43363	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.H71	ENST00000343060.4	37	c.213	CCDS5401.1	7																																																																																			HOXA1	-	NULL	ENSG00000105991		0.642	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	HGNC	protein_coding	OTTHUMT00000358454.1	-	0	65	0	G			27135319	-1	tier1	rs2074398	no_errors	ENST00000343060	ensembl	human	known	74_37	silent	6.94	67	5	SNP	0.999	A	A	27135319	G	A	27135319	2	1	8	1	0	0	0	0	0	0	0	1	7315	1252	44	3		3	HOXA1	7	27135319	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	20682702	27135319	132003344	102	2274											
INHBA	3624	genome.wustl.edu	37	chr7	41729788	41729788	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagctggcgccactctcctgGcactgctcacaggcaatccg	8	7	10	16	2	2	0	1	0	1	0	4	0	3	0	3	3	2	4	3	3	2	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:41729788G>T	ENST00000242208.4	-	3	987	c.741C>A	c.(739-741)tgC>tgA	p.C247*	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Nonsense_Mutation_p.C247*	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	247					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTCTCCTGGCACTGCTCAC	0.597										TSP Lung(11;0.080)																																							0													41	42	42					7																	41729788		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.741C>A	7.37:g.41729788G>T	ENSP00000242208:p.Cys247*		Q14599	Nonsense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.C247*	ENST00000242208.4	37	c.741	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	37	6.583797	0.97684	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	.	.	.	6.06	4.28	0.50868	.	0.440586	0.26855	N	0.022147	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6686	10.8331	0.46671	0.2496:0.0:0.7504:0.0	.	.	.	.	X	247	.	ENSP00000242208:C247X	C	-	3	2	INHBA	41696313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.404000	0.44539	0.916000	0.36871	0.655000	0.94253	TGC	INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.597	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0	46	0	G			41729788	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	41729788	G	T	41729788	4	4	8	1	0	0	0	0	0	1	0	0	7768	1195	42	3	543	3	INHBA	7	41729788	Nonsense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	14594469	41729788	117408875	103	2275											
ABCA13	154664	genome.wustl.edu	37	chr7	48259060	48259060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaatgatggacaaggcaAaaaacttaaaaagactttgg	19	8	10	4	0	0	2	0	1	0	1	0	4	0	4	0	4	1	1	0	4	8	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:48259060A>G	ENST00000435803.1	+	4	421	c.397A>G	c.(397-399)Aaa>Gaa	p.K133E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	133					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGACAAGGCAAAAAACTTAAA	0.433																																																	0													125	118	120					7																	48259060		1866	4106	5972	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.397A>G	7.37:g.48259060A>G	ENSP00000411096:p.Lys133Glu		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K133E	ENST00000435803.1	37	c.397	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	11.53	1.667231	0.29604	.	.	ENSG00000179869	ENST00000435803	T	0.30448	1.53	5.58	-1.87	0.07737	.	0.791973	0.11031	N	0.607240	T	0.20007	0.0481	L	0.47716	1.5	0.09310	N	1	B;B	0.21381	0.055;0.052	B;B	0.20767	0.008;0.031	T	0.35549	-0.9784	10	0.11794	T	0.64	.	5.7779	0.18289	0.4026:0.4338:0.1635:0.0	.	133;133	Q86UQ4;Q86UQ4-2	ABCAD_HUMAN;.	E	133	ENSP00000411096:K133E	ENSP00000409268:K133E	K	+	1	0	ABCA13	48229606	0.000000	0.05858	0.004000	0.12327	0.771000	0.43674	-0.295000	0.08298	-0.126000	0.11682	0.533000	0.62120	AAA	ABCA13	-	NULL	ENSG00000179869		0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	55	0	A	NM_152701		48259060	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	15.38	66	12	SNP	0.000	G	G	48259060	A	G	48259060	3	3	8	1	0	0	0	0	1	0	0	0	31	15	1	4	240	4	ABCA13	7	48259060	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	6529272	48259060	110879603	104	2276											
ABCA13	154664	genome.wustl.edu	37	chr7	48619851	48619851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgtcttctgctggcacgGcaggcgtgctcattggctac	5	11	12	13	2	3	0	1	0	2	0	3	0	3	0	1	4	3	5	1	4	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:48619851G>A	ENST00000435803.1	+	56	14410	c.14386G>A	c.(14386-14388)Gca>Aca	p.A4796T	ABCA13_ENST00000544596.1_Missense_Mutation_p.A526T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4796	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCTGGCACGGCAGGCGTGCT	0.537																																																	0													24	28	27					7																	48619851		1971	4159	6130	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14386G>A	7.37:g.48619851G>A	ENSP00000411096:p.Ala4796Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A4796T	ENST00000435803.1	37	c.14386	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255425	0.59321	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.40756	1.02;1.02;1.02	5.0	3.11	0.35812	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.306700	0.05639	N	0.583050	T	0.53867	0.1823	M	0.77820	2.39	0.09310	N	1	B;P;P	0.49559	0.203;0.818;0.925	B;B;P	0.48270	0.149;0.311;0.572	T	0.36212	-0.9757	10	0.33141	T	0.24	.	10.1867	0.43002	0.0:0.0:0.6384:0.3616	.	526;2498;4796	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	T	4796;569;526	ENSP00000411096:A4796T;ENSP00000391042:A569T;ENSP00000442634:A526T	ENSP00000391042:A569T	A	+	1	0	ABCA13	48590397	0.075000	0.21258	0.001000	0.08648	0.001000	0.01503	2.868000	0.48436	0.455000	0.26910	0.637000	0.83480	GCA	ABCA13	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.537	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2		0	36	0	G	NM_152701		48619851	1			no_errors	ENST00000435803	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.002	A	A	48619851	G	A	48619851	3	1	8	1	0	0	0	0	1	0	0	0	31	1203	42	3	14437	3	ABCA13	7	48619851	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	360791	48619851	110518812	105	2277											
SEMA3D	223117	genome.wustl.edu	37	chr7	84629130	84629130	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatccttcttctgcaaacTtcgaatcagtagcccatatt	12	13	5	11	1	3	1	1	0	2	1	5	2	4	1	2	0	3	2	2	0	5	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:84629130T>G	ENST00000284136.6	-	17	2003	c.1960A>C	c.(1960-1962)Agt>Cgt	p.S654R	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	654	Ig-like C2-type.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTCTGCAAACTTCGAATCAGT	0.398																																					Ovarian(63;442 1191 17318 29975 31528)												0													64	57	59					7																	84629130		2203	4300	6503	SO:0001583	missense	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1960A>C	7.37:g.84629130T>G	ENSP00000284136:p.Ser654Arg		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S654R	ENST00000284136.6	37	c.1960	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	T	7.307	0.614171	0.14129	.	.	ENSG00000153993	ENST00000284136	T	0.65732	-0.17	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.211135	0.64402	N	0.000017	T	0.48642	0.1511	N	0.26162	0.8	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.44345	-0.9334	10	0.10902	T	0.67	.	16.1968	0.82036	0.0:0.0:0.0:1.0	.	654	O95025	SEM3D_HUMAN	R	654	ENSP00000284136:S654R	ENSP00000284136:S654R	S	-	1	0	SEMA3D	84467066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.825000	0.48096	2.225000	0.72522	0.533000	0.62120	AGT	SEMA3D	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000153993		0.398	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2		0	39	0	T	NM_152754		84629130	-1			no_errors	ENST00000284136	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	G	G	84629130	T	G	84629130	3	3	8	1	0	0	0	0	1	0	0	0	14072	1609	56	4	377	4	SEMA3D	7	84629130	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	36009279	84629130	74509533	106	2278											
GRM3	2913	genome.wustl.edu	37	chr7	86416181	86416181	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggacttctgggagcaaaAgtttcagtgcagcctccaga	10	8	12	11	1	2	1	1	0	1	1	3	3	3	3	3	2	3	3	3	2	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:86416181A>T	ENST00000361669.2	+	3	2172	c.1073A>T	c.(1072-1074)aAg>aTg	p.K358M	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.K358M|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.K356M|GRM3_ENST00000536043.1_Missense_Mutation_p.K230M	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	358					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGGGAGCAAAAGTTTCAGTGC	0.587																																					GBM(52;969 1098 3139 52280)												0													61	59	59					7																	86416181		2203	4300	6503	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1073A>T	7.37:g.86416181A>T	ENSP00000355316:p.Lys358Met		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.K358M	ENST00000361669.2	37	c.1073	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157133	0.78114	.	.	ENSG00000198822	ENST00000361669;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.049500	0.85682	D	0.000000	D	0.88662	0.6497	L	0.45352	1.415	0.58432	D	0.999999	B;D;B	0.67145	0.383;0.996;0.437	P;D;P	0.63793	0.822;0.918;0.888	D	0.88739	0.3242	10	0.49607	T	0.09	.	15.5577	0.76213	1.0:0.0:0.0:0.0	.	230;358;358	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	M	358;230;358;356	ENSP00000355316:K358M;ENSP00000441407:K230M;ENSP00000398767:K358M;ENSP00000378209:K356M	ENSP00000355316:K358M	K	+	2	0	GRM3	86254117	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.225000	0.72271	2.263000	0.75096	0.533000	0.62120	AAG	GRM3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000198822		0.587	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0	44	0	A			86416181	1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	86416181	A	T	86416181	3	4	8	1	0	0	0	0	1	0	0	0	6825	72	3	5	1079	5	GRM3	7	86416181	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	1787051	86416181	72722482	107	2279											
C7orf63	79846	genome.wustl.edu	37	chr7	89937151	89937151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcttggctagaacatcaAacgctaaaacgttaaaggta	16	11	7	7	2	2	1	1	0	1	1	2	1	2	1	0	2	3	4	0	2	8	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:89937151A>G	ENST00000389297.4	+	21	2784	c.2533A>G	c.(2533-2535)Aac>Gac	p.N845D	C7orf63_ENST00000497910.1_Missense_Mutation_p.N827D|C7orf63_ENST00000316089.8_Missense_Mutation_p.N799D	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		845										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAGAACATCAAACGCTAAAAC	0.343																																																	0													66	65	65					7																	89937151		1840	4094	5934	SO:0001583	missense	0																														ENST00000389297.4:c.2533A>G	7.37:g.89937151A>G	ENSP00000373948:p.Asn845Asp		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N845D	ENST00000389297.4	37	c.2533	CCDS43613.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.39|18.39	3.613365|3.613365	0.66672|0.66672	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000412839;ENST00000445156|ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.|T;T;T;T	.|0.25414	.|2.46;2.35;2.45;1.8	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.115504	.|0.53938	.|D	.|0.000045	T|T	0.46112|0.46112	0.1376|0.1376	L|L	0.56396|0.56396	1.775|1.775	0.43662|0.43662	D|D	0.99608|0.99608	.|B;D	.|0.76494	.|0.259;0.999	.|B;D	.|0.83275	.|0.137;0.996	T|T	0.30446|0.30446	-0.9978|-0.9978	5|10	.|0.34782	.|T	.|0.22	-21.6192|-21.6192	14.1944|14.1944	0.65659|0.65659	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|827;845	.|A5D8W1-5;A5D8W1	.|.;CG063_HUMAN	R|D	73;31|845;799;827;382	.|ENSP00000373948:N845D;ENSP00000321753:N799D;ENSP00000419549:N827D;ENSP00000391571:N382D	.|ENSP00000321753:N799D	K|N	+|+	2|1	0|0	C7orf63|C7orf63	89775087|89775087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	3.940000|3.940000	0.56599|0.56599	1.949000|1.949000	0.56562|0.56562	0.528000|0.528000	0.53228|0.53228	AAA|AAC	C7orf63	-	NULL	ENSG00000105792		0.343	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4		0	68	0	A			89937151	1			no_errors	ENST00000389297	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G	G	89937151	A	G	89937151	3	3	8	1	0	0	0	0	1	0	0	0	2416	14	1	4	2615	4	C7orf63	7	89937151	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	3520970	89937151	69201512	108	2280											
MDFIC	29969	genome.wustl.edu	37	chr7	114619635	114619635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaataggcaagataaagAacggccacacaggtctgagc	17	4	12	8	1	1	3	0	1	1	2	1	4	1	4	1	4	2	1	1	4	6	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:114619635A>G	ENST00000393486.1	+	4	882	c.292A>G	c.(292-294)Aac>Gac	p.N98D	MDFIC_ENST00000257724.3_Missense_Mutation_p.N207D	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CAAGATAAAGAACGGCCACAC	0.473																																																	0													83	79	80					7																	114619635		2203	4300	6503	SO:0001583	missense	0			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.292A>G	7.37:g.114619635A>G	ENSP00000377126:p.Asn98Asp			Missense_Mutation	SNP	NULL	p.N98D	ENST00000393486.1	37	c.292	CCDS55155.1	7	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097717	0.76870	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.98	5.98	0.97165	.	0.060378	0.64402	D	0.000010	T	0.62600	0.2441	M	0.72894	2.215	0.80722	D	1	D	0.55385	0.971	P	0.47162	0.54	T	0.61282	-0.7094	9	0.19590	T	0.45	-10.1621	16.4696	0.84102	1.0:0.0:0.0:0.0	.	98	Q9P1T7	MDFIC_HUMAN	D	207;98;84;43	.	ENSP00000257724:N207D	N	+	1	0	MDFIC	114406871	1.000000	0.71417	0.984000	0.44739	0.464000	0.32679	7.135000	0.77276	2.289000	0.77006	0.482000	0.46254	AAC	MDFIC	-	NULL	ENSG00000135272		0.473	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDFIC	HGNC	protein_coding	OTTHUMT00000059968.4	-	0	50	0	A	NM_199072		114619635	1	tier1	-	no_errors	ENST00000393486	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	G	G	114619635	A	G	114619635	3	3	8	1	0	0	0	0	1	0	0	0	9443	246	9	4	675	4	MDFIC	7	114619635	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	24682484	114619635	44519028	109	2281											
FAM40B	57464	genome.wustl.edu	37	chr7	129125630	129125630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgagagagaggtgttttCacagcccatctgttgggagg	8	10	15	8	1	2	2	1	0	1	2	3	5	2	3	1	3	1	3	1	3	0	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr7:129125630C>T	ENST00000249344.2	+	21	2505	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	RNU1-72P_ENST00000362976.1_RNA	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	822					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GAGGTGTTTTCACAGCCCATC	0.488																																																	0													112	105	108					7																	129125630		2203	4300	6503	SO:0001583	missense	0			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.2465C>T	7.37:g.129125630C>T	ENSP00000249344:p.Ser822Leu		Q8WUZ4	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.S822L	ENST00000249344.2	37	c.2465	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.421999	0.96111	.	.	ENSG00000128578	ENST00000249344	T	0.47177	0.85	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.67953	2.075	0.80722	D	1	D	0.57899	0.981	D	0.69824	0.966	T	0.68337	-0.5435	10	0.62326	D	0.03	-9.3375	19.2409	0.93883	0.0:1.0:0.0:0.0	.	822	Q9ULQ0	FA40B_HUMAN	L	822	ENSP00000249344:S822L	ENSP00000249344:S822L	S	+	2	0	FAM40B	128912866	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.764000	0.85297	2.788000	0.95919	0.557000	0.71058	TCA	STRIP2	-	NULL	ENSG00000128578		0.488	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP2	HGNC	protein_coding	OTTHUMT00000349418.1	-	0	42	0	C	NM_001134336		129125630	1	tier1	-	no_errors	ENST00000249344	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	T	T	129125630	C	T	129125630	3	4	8	1	0	0	0	0	1	0	0	0	5583	838	29	3	2570	3	FAM40B	7	129125630	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	14505995	129125630	30013033	110	2282											
ZFHX4	79776	genome.wustl.edu	37	chr8	77618065	77618065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaaatagcccggggagAcgaagacagttcagccactc	14	5	12	10	2	1	3	1	1	0	2	2	5	1	3	2	2	2	1	2	2	4	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr8:77618065A>G	ENST00000521891.2	+	2	2190	c.1742A>G	c.(1741-1743)gAc>gGc	p.D581G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D581G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D581G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D581G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCCGGGGAGACGAAGACAGT	0.572										HNSCC(33;0.089)																																							0													60	66	64					8																	77618065		2112	4227	6339	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1742A>G	8.37:g.77618065A>G	ENSP00000430497:p.Asp581Gly		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D581G	ENST00000521891.2	37	c.1742	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798471	0.31777	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.53423	0.62;0.69;0.66;0.63	5.65	5.65	0.86999	.	0.000000	0.46442	U	0.000291	T	0.54319	0.1851	L	0.50333	1.59	0.58432	D	0.999995	P;P;P;P	0.44044	0.682;0.787;0.787;0.825	B;B;B;P	0.49829	0.202;0.367;0.367;0.623	T	0.52968	-0.8504	10	0.45353	T	0.12	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	581;581;581;581	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	G	581	ENSP00000430497:D581G;ENSP00000399605:D581G;ENSP00000050961:D581G;ENSP00000430848:D581G	ENSP00000050961:D581G	D	+	2	0	ZFHX4	77780620	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.662000	0.91130	2.371000	0.80710	0.533000	0.62120	GAC	ZFHX4	-	NULL	ENSG00000091656		0.572	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	34	0	A	NM_024721		77618065	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	G	G	77618065	A	G	77618065	3	3	8	1	0	0	0	0	1	0	0	0	17683	275	10	4	1744	4	ZFHX4	8	77618065	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09		77618065	68745957	111	2283											
SLC7A13	157724	genome.wustl.edu	37	chr8	87242065	87242065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaccacgagaagtcaGaattcctacaatccacaaca	16	8	4	13	1	2	2	2	0	0	2	4	3	4	2	3	0	2	0	3	0	5	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr8:87242065G>T	ENST00000297524.3	-	1	545	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.L148M	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	148						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CGAGAAGTCAGAATTCCTACA	0.463																																																	0													105	95	99					8																	87242065		2203	4300	6503	SO:0001583	missense	0			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.442C>A	8.37:g.87242065G>T	ENSP00000297524:p.Leu148Met		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.L148M	ENST00000297524.3	37	c.442	CCDS34917.1	8	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219173	0.39201	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.91237	-2.81;-2.81	4.74	3.87	0.44632	Amino acid permease domain (1);	0.159884	0.30235	N	0.010094	D	0.90170	0.6928	L	0.37800	1.135	0.29781	N	0.833973	P;D	0.64830	0.86;0.994	P;D	0.63283	0.661;0.913	D	0.85547	0.1219	10	0.87932	D	0	.	6.1616	0.20368	0.0946:0.0:0.7213:0.1841	.	148;148	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	M	148	ENSP00000297524:L148M;ENSP00000410982:L148M	ENSP00000297524:L148M	L	-	1	2	SLC7A13	87311181	0.961000	0.32948	0.991000	0.47740	0.451000	0.32288	0.817000	0.27281	1.367000	0.46095	0.514000	0.50259	CTG	SLC7A13	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000164893		0.463	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A13	HGNC	protein_coding	OTTHUMT00000374704.1	-	0	42	0	G	NM_138817		87242065	-1	tier1	-	no_errors	ENST00000297524	ensembl	human	known	74_37	missense	29.17	34	14	SNP	0.853	T	T	87242065	G	T	87242065	3	4	8	1	0	0	0	0	1	0	0	0	14740	933	33	3	986	3	SLC7A13	8	87242065	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	9624000	87242065	59121957	112	2284											
OTUD6B	51633	genome.wustl.edu	37	chr8	92090640	92090640	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatagctgaagctgaaatTgaaaacttaacaggagccag	16	7	11	7	1	0	3	0	3	0	0	0	5	0	5	1	2	5	2	1	2	6	3	rs370719791		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr8:92090640T>C	ENST00000285420.4	+	4	561	c.462T>C	c.(460-462)atT>atC	p.I154I	OTUD6B_ENST00000404789.3_Silent_p.I23I	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	124	Cys-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAGCTGAAATTGAAAACTTAA	0.373																																																	0								T		0,4402		0,0,2201	45	47	46		462	3.7	1	8		46	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	OTUD6B	NM_016023.3		0,1,6498	CC,CT,TT		0.0116,0.0,0.0077		154/324	92090640	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.462T>C	8.37:g.92090640T>C			A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Silent	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.I154	ENST00000285420.4	37	c.462	CCDS6253.2	8																																																																																			OTUD6B	-	NULL	ENSG00000155100		0.373	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	-	0	65	0	T	NM_016023		92090640	1	tier1	-	no_errors	ENST00000285420	ensembl	human	known	74_37	silent	48.24	44	41	SNP	1.000	C	C	92090640	T	C	92090640	2	2	8	1	0	0	0	0	0	0	0	1	11356	1800	63	4		4	OTUD6B	8	92090640	Silent	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	4848575	92090640	54273382	113	2285											
KCNS2	3788	genome.wustl.edu	37	chr8	99441035	99441035	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttttacatcactctggtGgtgaacctggtggtggagag	7	12	13	9	0	2	2	1	1	1	1	2	3	2	2	2	5	2	0	2	5	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr8:99441035G>T	ENST00000287042.4	+	2	1178	c.828G>T	c.(826-828)gtG>gtT	p.V276V	KCNS2_ENST00000521839.1_Silent_p.V276V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	276					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCACTCTGGTGGTGAACCTGG	0.537																																					Pancreas(138;844 2489 9202 24627)												0													183	177	179					8																	99441035		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.828G>T	8.37:g.99441035G>T			A8KAN1	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.V276	ENST00000287042.4	37	c.828	CCDS6279.1	8																																																																																			KCNS2	-	pfam_Ion_trans_dom	ENSG00000156486		0.537	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1		0	56	0	G	NM_020697		99441035	1			no_errors	ENST00000287042	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.998	T	T	99441035	G	T	99441035	2	4	8	1	0	0	0	0	0	0	0	1	8116	1335	47	3		3	KCNS2	8	99441035	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	7350395	99441035	46922987	114	2286											
ZFPM2	23414	genome.wustl.edu	37	chr8	106813368	106813368	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatcaactttcaccaacAcctgttctcccatctcactc	9	12	3	17	1	4	1	3	1	2	0	7	1	4	1	3	0	2	1	3	0	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr8:106813368A>T	ENST00000407775.2	+	8	1308	c.1058A>T	c.(1057-1059)cAc>cTc	p.H353L	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.H221L|ZFPM2_ENST00000520492.1_Missense_Mutation_p.H221L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.H84L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	353					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTCACCAACACCTGTTCTCC	0.498																																																	0													203	196	198					8																	106813368		2030	4215	6245	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1058A>T	8.37:g.106813368A>T	ENSP00000384179:p.His353Leu		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H353L	ENST00000407775.2	37	c.1058	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068957	0.76301	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.83569	0.0111	10	0.87932	D	0	.	16.1988	0.82053	1.0:0.0:0.0:0.0	.	353	Q8WW38	FOG2_HUMAN	L	353;221;221;84	ENSP00000384179:H353L;ENSP00000430757:H221L;ENSP00000428720:H221L;ENSP00000367733:H84L	ENSP00000367733:H84L	H	+	2	0	ZFPM2	106882544	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.284000	0.76573	0.528000	0.53228	CAC	ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	63	0	A			106813368	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	7.69	96	8	SNP	1.000	T	T	106813368	A	T	106813368	3	4	8	1	0	0	0	0	1	0	0	0	17706	159	6	5	1088	5	ZFPM2	8	106813368	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	7372333	106813368	39550654	115	2287											
NUDCD1	84955	genome.wustl.edu	37	chr8	110305697	110305697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgttcttcagcatttagCagtgagatactgtgaattat	12	15	9	5	0	2	2	1	2	1	1	2	4	2	2	0	0	3	3	0	0	5	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr8:110305697C>T	ENST00000239690.4	-	4	890	c.516G>A	c.(514-516)ctG>ctA	p.L172L	NUDCD1_ENST00000427660.2_Silent_p.L143L	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGCATTTAGCAGTGAGATAC	0.333																																																	0													118	125	122					8																	110305697		2203	4300	6503	SO:0001819	synonymous_variant	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.516G>A	8.37:g.110305697C>T				Silent	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.L172	ENST00000239690.4	37	c.516	CCDS6312.1	8																																																																																			NUDCD1	-	NULL	ENSG00000120526		0.333	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1		0	35	0	C	NM_032869		110305697	-1			no_errors	ENST00000239690	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.992	T	T	110305697	C	T	110305697	2	4	8	1	0	0	0	0	0	0	0	1	10761	697	25	3		3	NUDCD1	8	110305697	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	3492329	110305697	36058325	116	2288											
VCP	7415	genome.wustl.edu	37	chr9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T																															tagcgccaatgatgaacacaINStttttttttgtggacatgcc																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:35059646_35059647insT	ENST00000358901.6	-	14	2742_2743	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	616					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.N616fs*63(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1848dupA	9.37:g.35059655_35059655dupT	ENSP00000351777:p.Asn616fs		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.N616fs	ENST00000358901.6	37	c.1848_1847	CCDS6573.1	9																																																																																			VCP	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.515	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1		0	54	0	-	NM_007126		35059647	-1	tier1		no_errors	ENST00000358901	ensembl	human	known	74_37	frame_shift_ins	9.68	56	6	INS	1.000:1.000	T	T	35059647	-	T	35059646	7	5	8	1	0	1	1	0	0	0	0	0	17189	214	8	0	588	0	VCP	9	35059646	Frame_Shift_Ins	INS	-	TCGA-2H-A9GM-01A-11D-A37C-09		35059646	106153785	117	2289											
UNC13B	10497	genome.wustl.edu	37	chr9	35398267	35398267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggagaaaatgtttgaGgccatgggaggcaaggaggt	12	7	17	5	0	0	2	0	1	0	1	0	5	0	4	1	6	1	3	1	6	3	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:35398267G>T	ENST00000378495.3	+	30	3789	c.3567G>T	c.(3565-3567)gaG>gaT	p.E1189D	UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1189D|UNC13B_ENST00000396787.1_Missense_Mutation_p.E1201D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1189					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.E1189D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AAATGTTTGAGGCCATGGGAG	0.502																																																	1	Substitution - Missense(1)	endometrium(1)											129	103	112					9																	35398267		2203	4300	6503	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3567G>T	9.37:g.35398267G>T	ENSP00000367756:p.Glu1189Asp		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1189D	ENST00000378495.3	37	c.3567	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801415	0.70567	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.78924	-1.22;-1.22;-1.22	5.73	1.74	0.24563	.	0.000000	0.85682	D	0.000000	D	0.84897	0.5574	M	0.89095	3.005	0.51482	D	0.999925	D;D	0.65815	0.995;0.982	P;P	0.56278	0.795;0.764	T	0.83166	-0.0096	10	0.52906	T	0.07	-25.2969	9.1445	0.36923	0.4732:0.0:0.5268:0.0	.	1189;1189	F8W8M9;O14795	.;UN13B_HUMAN	D	1201;1189;1189;776	ENSP00000380006:E1201D;ENSP00000367756:E1189D;ENSP00000367757:E1189D	ENSP00000367756:E1189D	E	+	3	2	UNC13B	35388267	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	0.603000	0.24149	0.045000	0.15804	0.563000	0.77884	GAG	UNC13B	-	NULL	ENSG00000198722		0.502	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	-	0	85	0	G	NM_006377		35398267	1	tier1	-	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.997	T	T	35398267	G	T	35398267	3	4	8	1	0	0	0	0	1	0	0	0	17034	991	35	3	3685	3	UNC13B	9	35398267	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	338621	35398267	105815164	118	2290											
SPAG8	4882	genome.wustl.edu	37	chr9	35811298	35811298	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacccggttctaagacttGcaaaaattcccaaggtggtt	11	10	10	10	1	1	1	0	0	1	1	2	1	2	1	2	4	1	4	2	4	4	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:35811298G>A	ENST00000342694.2	+	0	3686				SPAG8_ENST00000396638.2_Nonsense_Mutation_p.Q249*|SPAG8_ENST00000479751.1_5'UTR|HINT2_ENST00000474908.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Nonsense_Mutation_p.Q249*|SPAG8_ENST00000484764.1_Nonsense_Mutation_p.Q247*	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTAAGACTTGCAAAAATTCC	0.542																																																	0													111	134	126					9																	35811298		2201	4299	6500	SO:0001628	intergenic_variant	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811298G>A			B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Nonsense_Mutation	SNP	prints_Antifreeze_1	p.Q249*	ENST00000342694.2	37	c.745	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959834	0.34565	.	.	ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638	.	.	.	5.65	3.75	0.43078	.	0.386827	0.21813	N	0.068732	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.6268	11.2239	0.48871	0.0:0.0:0.645:0.355	.	.	.	.	X	249;247;249	.	ENSP00000340982:Q249X	Q	-	1	0	SPAG8	35801298	0.983000	0.35010	0.455000	0.27031	0.048000	0.14542	1.869000	0.39519	0.864000	0.35578	0.655000	0.94253	CAA	SPAG8	-	NULL	ENSG00000137098		0.542	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG8	HGNC	protein_coding	OTTHUMT00000052345.1	-	0	92	0	G			35811298	-1	tier1	-	no_errors	ENST00000340291	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.965	A	A	35811298	G	A	35811298	1	1	8	0	1	0	0	0	0	0	0	0	15031	1328	46	3		3	SPAG8	9	35811298	IGR	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	413031	35811298	105402133	119	2291											
FAM75A3	727830	genome.wustl.edu	37	chr9	40702724	40702724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccccaggtgaggtgggCgaaagagcacctgatggagc	10	4	16	11	1	0	3	0	2	0	1	0	6	0	4	4	4	2	1	4	4	1	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:40702724C>T	ENST00000356699.5	+	4	410	c.381C>T	c.(379-381)ggC>ggT	p.G127G	RP11-395E19.5_ENST00000432614.1_lincRNA|SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	127	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTGAGGTGGGCGAAAGAGCAC	0.602																																																	0													9	9	9					9																	40702724		1119	2889	4008	SO:0001819	synonymous_variant	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.381C>T	9.37:g.40702724C>T				Silent	SNP	NULL	p.G127	ENST00000356699.5	37	c.381	CCDS47969.1	9																																																																																			SPATA31A3	-	NULL	ENSG00000147926		0.602	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1	-	0	145	0	C	NM_001083124		40702724	1	tier1	-	no_errors	ENST00000356699	ensembl	human	known	74_37	silent	25.00	33	11	SNP	0.000	T	T	40702724	C	T	40702724	2	4	8	1	0	0	0	0	0	0	0	1	5643	755	27	1		1	FAM75A3	9	40702724	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4891426	40702724	100510707	120	2292											
VPS13A	23230	genome.wustl.edu	37	chr9	79973297	79973297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcagatacatggtgctGtatttccctttgtgttttat	10	18	7	6	0	1	1	1	0	0	1	2	1	2	1	1	1	2	3	1	1	5	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:79973297G>T	ENST00000360280.3	+	57	8238	c.7978G>T	c.(7978-7980)Gta>Tta	p.V2660L	VPS13A_ENST00000357409.5_Missense_Mutation_p.V2660L|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2660L|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2621L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2660					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACATGGTGCTGTATTTCCCTT	0.323																																																	0													182	170	174					9																	79973297		2203	4300	6503	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7978G>T	9.37:g.79973297G>T	ENSP00000353422:p.Val2660Leu		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.V2660L	ENST00000360280.3	37	c.7978	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140387	0.56936	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.92	-7.5	0.01351	.	0.399608	0.28883	N	0.013822	T	0.68751	0.3035	L	0.49126	1.545	0.80722	D	1	B;B;B;B	0.20459	0.02;0.011;0.045;0.018	B;B;B;B	0.31245	0.126;0.013;0.063;0.063	T	0.46992	-0.9151	9	.	.	.	.	16.6197	0.84927	0.3749:0.0:0.6251:0.0	.	2621;2660;2660;2660	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	2660;2621;2660;2660	ENSP00000365821:V2660L;ENSP00000365823:V2621L;ENSP00000353422:V2660L;ENSP00000349985:V2660L	.	V	+	1	0	VPS13A	79163117	0.999000	0.42202	0.603000	0.28903	0.985000	0.73830	0.878000	0.28126	-1.527000	0.01758	-0.781000	0.03364	GTA	VPS13A	-	NULL	ENSG00000197969		0.323	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0	105	0	G	NM_015186		79973297	1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.960	T	T	79973297	G	T	79973297	3	4	8	1	0	0	0	0	1	0	0	0	17238	1377	48	3	8204	3	VPS13A	9	79973297	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	39270573	79973297	61240134	121	2293											
DAPK1	1612	genome.wustl.edu	37	chr9	90321181	90321181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaccggggccgctacacCgtggaggacatccagcgcct	8	5	12	16	4	0	0	0	0	0	0	1	2	1	2	5	4	3	1	5	4	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:90321181C>T	ENST00000408954.3	+	26	3530	c.3195C>T	c.(3193-3195)acC>acT	p.T1065T	DAPK1_ENST00000472284.1_Silent_p.T1065T|DAPK1_ENST00000469640.2_Silent_p.T1090T|DAPK1_ENST00000358077.5_Silent_p.T1065T|DAPK1_ENST00000491893.1_Silent_p.T999T	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1065					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCCGCTACACCGTGGAGGACA	0.677									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													28	34	32					9																	90321181		2100	4219	6319	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3195C>T	9.37:g.90321181C>T			B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.T1090	ENST00000408954.3	37	c.3270	CCDS43842.1	9																																																																																			DAPK1	-	NULL	ENSG00000196730		0.677	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	-	0	46	0	C	NM_004938		90321181	1	tier1	-	no_errors	ENST00000469640	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.738	T	T	90321181	C	T	90321181	2	4	8	1	0	0	0	0	0	0	0	1	4244	639	23	1		1	DAPK1	9	90321181	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	10347884	90321181	50892250	122	2294											
GALNT12	79695	genome.wustl.edu	37	chr9	101602293	101602293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctcaggaaccttttGgggatgtgacagagaggaag	10	12	14	5	0	1	2	1	1	1	1	2	6	1	5	1	4	1	1	1	4	2	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:101602293G>T	ENST00000375011.3	+	7	1222	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	408					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGAACCTTTTGGGGATGTGAC	0.493																																																	0													137	134	135					9																	101602293		2203	4300	6503	SO:0001583	missense	0			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1222G>T	9.37:g.101602293G>T	ENSP00000364150:p.Gly408Trp		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G408W	ENST00000375011.3	37	c.1222	CCDS6737.1	9	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728058	0.89390	.	.	ENSG00000119514	ENST00000375011	T	0.67523	-0.27	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91601	0.5295	10	0.87932	D	0	.	17.8445	0.88725	0.0:0.0:1.0:0.0	.	408	Q8IXK2	GLT12_HUMAN	W	408	ENSP00000364150:G408W	ENSP00000364150:G408W	G	+	1	0	GALNT12	100642114	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GGG	GALNT12	-	NULL	ENSG00000119514		0.493	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT12	HGNC	protein_coding	OTTHUMT00000053382.1		0	84	0	G	NM_024642		101602293	1			no_errors	ENST00000375011	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	101602293	G	T	101602293	3	4	8	1	0	0	0	0	1	0	0	0	6235	1348	47	3	1248	3	GALNT12	9	101602293	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	11281112	101602293	39611138	123	2295											
SH2D3C	10044	genome.wustl.edu	37	chr9	130509456	130509456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaggggagctagggctctCggagatgggcgacatgggtg	7	6	21	7	2	1	1	0	0	1	1	2	4	1	2	0	7	1	3	0	7	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:130509456C>T	ENST00000314830.8	-	6	1347	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	SH2D3C_ENST00000373276.3_Missense_Mutation_p.E344K|SH2D3C_ENST00000420366.1_Missense_Mutation_p.E254K|SH2D3C_ENST00000373274.3_Missense_Mutation_p.E252K|SH2D3C_ENST00000373277.4_Missense_Mutation_p.E255K|SH2D3C_ENST00000429553.1_Missense_Mutation_p.E58K|SH2D3C_ENST00000471939.1_Intron	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	412					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTAGGGCTCTCGGAGATGGGC	0.617																																																	0													101	93	95					9																	130509456		2203	4300	6503	SO:0001583	missense	0			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1234G>A	9.37:g.130509456C>T	ENSP00000317817:p.Glu412Lys		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.E412K	ENST00000314830.8	37	c.1234	CCDS6877.1	9	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046336	0.75846	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.48	5.48	0.80851	.	0.198066	0.51477	D	0.000088	T	0.42449	0.1203	M	0.61703	1.905	0.80722	D	1	P;P;P;P;P	0.52316	0.739;0.84;0.952;0.949;0.83	B;B;B;B;B	0.42062	0.122;0.089;0.278;0.374;0.242	T	0.34329	-0.9833	10	0.14252	T	0.57	-14.8093	18.3472	0.90326	0.0:1.0:0.0:0.0	.	252;412;344;255;254	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	K	255;254;344;252;58;412	ENSP00000362374:E255K;ENSP00000388536:E254K;ENSP00000362373:E344K;ENSP00000362371:E252K;ENSP00000394632:E58K;ENSP00000317817:E412K	ENSP00000317817:E412K	E	-	1	0	SH2D3C	129549277	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.263000	0.78421	2.584000	0.87258	0.561000	0.74099	GAG	SH2D3C	-	NULL	ENSG00000095370		0.617	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1	-	0	55	0	C	NM_005489		130509456	-1	tier1	-	no_errors	ENST00000314830	ensembl	human	known	74_37	missense	72.34	13	34	SNP	1.000	T	T	130509456	C	T	130509456	3	4	8	1	0	0	0	0	1	0	0	0	14279	893	31	1	1376	1	SH2D3C	9	130509456	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	28907163	130509456	10703975	124	2296											
SLC27A4	10999	genome.wustl.edu	37	chr9	131117388	131117388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccccctgcgccgcttcGatggctacctcaaccagggc	8	6	10	17	3	1	1	1	0	0	1	2	2	1	1	5	2	3	2	5	2	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:131117388G>T	ENST00000300456.4	+	10	1498	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	461					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D461Y(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGCCGCTTCGATGGCTACCT	0.622																																					Pancreas(107;1554 2241 10946 12953)												1	Substitution - Missense(1)	lung(1)											41	36	38					9																	131117388		2203	4300	6503	SO:0001583	missense	0			AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"Acyl-CoA synthetase family", "Solute carriers"	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1381G>T	9.37:g.131117388G>T	ENSP00000300456:p.Asp461Tyr		A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D461Y	ENST00000300456.4	37	c.1381	CCDS6899.1	9	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676731	0.88445	.	.	ENSG00000167114	ENST00000300456	T	0.41400	1.0	5.77	5.77	0.91146	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80437	-0.1383	10	0.59425	D	0.04	-24.9549	18.9865	0.92773	0.0:0.0:1.0:0.0	.	461	Q6P1M0	S27A4_HUMAN	Y	461	ENSP00000300456:D461Y	ENSP00000300456:D461Y	D	+	1	0	SLC27A4	130157209	1.000000	0.71417	0.625000	0.29200	0.998000	0.95712	7.644000	0.83416	2.724000	0.93272	0.561000	0.74099	GAT	SLC27A4	-	pfam_AMP-dep_Synth/Lig	ENSG00000167114		0.622	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	HGNC	protein_coding	OTTHUMT00000054432.2		0	69	0	G			131117388	1			no_errors	ENST00000300456	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.998	T	T	131117388	G	T	131117388	3	4	8	1	0	0	0	0	1	0	0	0	14573	1058	37	2	1415	2	SLC27A4	9	131117388	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	607932	131117388	10096043	125	2297											
TSC1	7248	genome.wustl.edu	37	chr9	135772688	135772688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaacacctgggttatcCttttctgagcctcatacctg	9	14	6	12	0	3	1	2	1	1	0	4	1	4	1	4	1	3	1	4	1	3	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:135772688C>A	ENST00000298552.3	-	22	3079	c.2858G>T	c.(2857-2859)aGg>aTg	p.R953M	TSC1_ENST00000440111.2_Missense_Mutation_p.R953M|TSC1_ENST00000545250.1_Missense_Mutation_p.R902M	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	953					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGGGTTATCCTTTTCTGAGC	0.423			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											115	120	118					9																	135772688		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2858G>T	9.37:g.135772688C>A	ENSP00000298552:p.Arg953Met		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.R953M	ENST00000298552.3	37	c.2858	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836946	0.71373	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.82711	-1.64;-1.64;-1.45	5.61	3.76	0.43208	.	0.158927	0.64402	D	0.000020	D	0.85292	0.5663	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.54706	0.759;0.759	D	0.84898	0.0840	10	0.72032	D	0.01	-8.7536	10.0893	0.42436	0.0:0.7789:0.0:0.2211	.	902;953	B7Z897;Q92574	.;TSC1_HUMAN	M	953;953;902	ENSP00000298552:R953M;ENSP00000394524:R953M;ENSP00000444017:R902M	ENSP00000298552:R953M	R	-	2	0	TSC1	134762509	0.996000	0.38824	0.978000	0.43139	0.993000	0.82548	1.545000	0.36169	0.712000	0.32039	0.650000	0.86243	AGG	TSC1	-	NULL	ENSG00000165699		0.423	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1		0	50	0	C			135772688	-1			no_errors	ENST00000298552	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A	A	135772688	C	A	135772688	3	1	8	1	0	0	0	0	1	0	0	0	16653	681	24	3	644	3	TSC1	9	135772688	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4655300	135772688	5440743	126	2298											
SURF6	6838	genome.wustl.edu	37	chr9	136199155	136199155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttctgcgctgcgccttGctggccggctcgtcttcgct	0	15	11	15	5	3	0	0	0	3	0	5	0	3	0	2	2	3	4	2	2	0	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:136199155G>T	ENST00000372022.4	-	5	901	c.636C>A	c.(634-636)agC>agA	p.S212R	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	212					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GCTGCGCCTTGCTGGCCGGCT	0.642																																																	0													44	49	47					9																	136199155		2192	4272	6464	SO:0001583	missense	0			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.636C>A	9.37:g.136199155G>T	ENSP00000361092:p.Ser212Arg		Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.S212R	ENST00000372022.4	37	c.636	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727110	0.15439	.	.	ENSG00000148296	ENST00000372022	T	0.14144	2.53	4.42	2.51	0.30379	.	0.398652	0.28859	N	0.013914	T	0.16300	0.0392	M	0.72118	2.19	0.27462	N	0.95313	B	0.24576	0.106	B	0.32465	0.146	T	0.12656	-1.0539	10	0.25106	T	0.35	-17.182	7.8769	0.29599	0.2652:0.0:0.7348:0.0	.	212	O75683	SURF6_HUMAN	R	212	ENSP00000361092:S212R	ENSP00000361092:S212R	S	-	3	2	SURF6	135188976	0.952000	0.32445	0.936000	0.37596	0.179000	0.23085	1.900000	0.39828	1.060000	0.40578	-0.373000	0.07131	AGC	SURF6	-	pfam_Surf6	ENSG00000148296		0.642	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1	-	0	46	0	G	NM_006753		136199155	-1	tier1	-	no_errors	ENST00000372022	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.978	T	T	136199155	G	T	136199155	3	4	8	1	0	0	0	0	1	0	0	0	15453	1310	46	3	453	3	SURF6	9	136199155	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	426467	136199155	5014276	127	2299											
UBAC1	10422	genome.wustl.edu	37	chr9	138830109	138830109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcccagctgcaccaccGggttatccaggatggcctga	8	7	12	14	1	1	1	1	1	0	0	2	2	2	2	5	4	2	3	5	4	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr9:138830109G>A	ENST00000371756.3	-	9	1278	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L	UBAC1_ENST00000465873.1_5'Flank	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	354	STI1.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGCACCACCGGGTTATCCAG	0.612																																					NSCLC(78;973 1398 27381 29552 42415)												0													123	114	117					9																	138830109		2203	4300	6503	SO:0001583	missense	0			AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"ubiquitin associated domain containing 1"	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.1061C>T	9.37:g.138830109G>A	ENSP00000360821:p.Pro354Leu		O75500|Q9UMW7	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk	p.P354L	ENST00000371756.3	37	c.1061	CCDS35177.1	9	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843710	0.91197	.	.	ENSG00000130560	ENST00000371756	T	0.46819	0.86	4.8	4.8	0.61643	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68988	-0.5264	10	0.87932	D	0	-25.5345	16.8501	0.85991	0.0:0.0:1.0:0.0	.	354	Q9BSL1	UBAC1_HUMAN	L	354	ENSP00000360821:P354L	ENSP00000360821:P354L	P	-	2	0	UBAC1	137969930	1.000000	0.71417	0.928000	0.36995	0.971000	0.66376	9.426000	0.97469	2.201000	0.70794	0.561000	0.74099	CCG	UBAC1	-	smart_STI1_HS-bd	ENSG00000130560		0.612	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAC1	HGNC	protein_coding	OTTHUMT00000055034.1	-	0	59	0	G	NM_016172		138830109	-1	tier1	-	no_errors	ENST00000371756	ensembl	human	known	74_37	missense	12.35	71	10	SNP	0.999	A	A	138830109	G	A	138830109	3	1	8	1	0	0	0	0	1	0	0	0	16883	1116	39	1	164	1	UBAC1	9	138830109	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	2630954	138830109	2383322	128	2300											
C1QL3	389941	genome.wustl.edu	37	chr10	16562539	16562539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgcgcatcaggacgtGgtaggtgaagaagtagatgc	10	7	14	10	3	1	3	1	1	0	2	2	4	2	4	2	3	1	3	2	3	4	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr10:16562539G>A	ENST00000298943.3	-	1	1465	c.526C>T	c.(526-528)Cac>Tac	p.H176Y		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	176	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ATCAGGACGTGGTAGGTGAAG	0.642																																																	0													107	103	104					10																	16562539		2203	4300	6503	SO:0001583	missense	0				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.526C>T	10.37:g.16562539G>A	ENSP00000298943:p.His176Tyr		A0PJY4|A0PJY5	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.H176Y	ENST00000298943.3	37	c.526	CCDS31156.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111065	0.77210	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	T	0.76060	-0.99	4.05	4.05	0.47172	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.75150	2.29	0.58432	D	0.999999	D	0.76494	0.999	D	0.72982	0.979	D	0.87251	0.2273	10	0.62326	D	0.03	.	16.3885	0.83524	0.0:0.0:1.0:0.0	.	176	Q5VWW1	C1QL3_HUMAN	Y	176;153	ENSP00000298943:H176Y	ENSP00000298943:H176Y	H	-	1	0	C1QL3	16602545	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.666000	0.83877	2.245000	0.73994	0.637000	0.83480	CAC	C1QL3	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000165985		0.642	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL3	HGNC	protein_coding	OTTHUMT00000047003.1	-	0	36	0	G	XM_372305		16562539	-1	tier1	-	no_errors	ENST00000298943	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	16562539	G	A	16562539	3	1	8	1	0	0	0	0	1	0	0	0	1967	1348	47	3	249	3	C1QL3	10	16562539	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		16562539	118972208	129	2301											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24886905	24886905	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtattcttttattcttcGactaattagatccctgttag	8	20	6	7	1	2	1	0	0	2	1	4	2	3	1	1	0	0	3	1	0	5	10			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr10:24886905G>T	ENST00000396432.2	-	15	3652	c.3166C>A	c.(3166-3168)Cga>Aga	p.R1056R	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Silent_p.R843R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1055	Interaction with ARF1 and ARF6.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.R1055*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTATTCTTCGACTAATTAGA	0.338																																																	1	Substitution - Nonsense(1)	lung(1)											180	170	173					10																	24886905		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3166C>A	10.37:g.24886905G>T			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R1056	ENST00000396432.2	37	c.3166	CCDS7144.2	10																																																																																			ARHGAP21	-	NULL	ENSG00000107863		0.338	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4		0	49	0	G	NM_020824		24886905	-1			no_errors	ENST00000396432	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	T	T	24886905	G	T	24886905	2	4	8	1	0	0	0	0	0	0	0	1	871	1066	37	2		2	ARHGAP21	10	24886905	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	8324366	24886905	110647842	130	2302											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37421184	37421184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggctagcctcacaccacTtttactatccataacgaaaa	15	9	4	13	1	1	0	1	0	0	0	2	1	2	0	3	1	3	1	3	1	6	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr10:37421184T>C	ENST00000602533.1	+	4	458	c.359T>C	c.(358-360)cTt>cCt	p.L120P	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L120P|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.L120P|RNU6-811P_ENST00000384069.1_RNA			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	176					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCACACCACTTTTACTATCC	0.294																																																	0													58	56	56					10																	37421184		1802	4070	5872	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.359T>C	10.37:g.37421184T>C	ENSP00000473551:p.Leu120Pro		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L120P	ENST00000602533.1	37	c.359		10	.	.	.	.	.	.	.	.	.	.	.	12.39	1.923823	0.34002	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	D;D	0.88277	-2.36;-2.36	2.37	2.37	0.29283	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.95592	0.8567	H	0.98005	4.125	0.47547	D	0.999455	D	0.69078	0.997	D	0.81914	0.995	D	0.93749	0.7057	9	0.66056	D	0.02	.	6.4334	0.21809	0.0:0.0:0.0:1.0	.	176	Q9BXX3	AN30A_HUMAN	P	120	ENSP00000354432:L120P;ENSP00000363792:L120P	ENSP00000354432:L120P	L	+	2	0	ANKRD30A	37461190	0.990000	0.36364	0.366000	0.25914	0.076000	0.17211	2.756000	0.47549	0.974000	0.38366	0.240000	0.17902	CTT	ANKRD30A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148513		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0	76	0	T	NM_052997		37421184	1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.742	C	C	37421184	T	C	37421184	3	2	8	1	0	0	0	0	1	0	0	0	658	1609	56	4	373	4	ANKRD30A	10	37421184	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	12534279	37421184	98113563	131	2303											
CDH23	64072	genome.wustl.edu	37	chr10	73558899	73558899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaccggacagtggactaCgaggaggtgcactggctcaa	11	5	14	11	2	1	0	1	0	0	0	1	4	1	3	2	5	3	2	2	5	3	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr10:73558899C>T	ENST00000224721.6	+	50	7106	c.7101C>T	c.(7099-7101)taC>taT	p.Y2367Y	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.Y122Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2362	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAGTGGACTACGAGGAGGTGC	0.572																																																	0													89	99	96					10																	73558899		2015	4186	6201	SO:0001819	synonymous_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7101C>T	10.37:g.73558899C>T			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y122	ENST00000224721.6	37	c.366		10																																																																																			CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4		0	70	0	C	NM_052836		73558899	1			no_errors	ENST00000398788	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.572	T	T	73558899	C	T	73558899	2	4	8	1	0	0	0	0	0	0	0	1	3115	547	19	1		1	CDH23	10	73558899	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	36137715	73558899	61975848	132	2304											
NDST2	8509	genome.wustl.edu	37	chr10	75567398	75567398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaactggtcctggcactgcgGgctcagctggccgaaggctg	6	7	16	12	2	1	0	1	0	0	0	2	2	2	0	2	5	3	4	2	5	2	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr10:75567398G>A	ENST00000309979.6	-	3	1305	c.749C>T	c.(748-750)cCc>cTc	p.P250L	RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.P250L|NDST2_ENST00000299641.4_Missense_Mutation_p.P127L			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	250	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TGGCACTGCGGGCTCAGCTGG	0.582																																																	0													58	55	56					10																	75567398		2203	4300	6503	SO:0001583	missense	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.749C>T	10.37:g.75567398G>A	ENSP00000310657:p.Pro250Leu		Q2TB32|Q59H89	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P250L	ENST00000309979.6	37	c.749	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	1.461	-0.562429	0.03939	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.41065	1.33;1.01	5.75	1.66	0.24008	.	0.865473	0.10492	N	0.668316	T	0.25044	0.0608	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21930	-1.0231	10	0.30854	T	0.27	.	9.0725	0.36502	0.3194:0.0:0.6806:0.0	.	127;250	B4E139;P52849	.;NDST2_HUMAN	L	250;127	ENSP00000310657:P250L;ENSP00000299641:P127L	ENSP00000299641:P127L	P	-	2	0	NDST2	75237404	0.039000	0.19947	0.005000	0.12908	0.305000	0.27757	1.769000	0.38522	0.031000	0.15407	-0.140000	0.14226	CCC	NDST2	-	pfam_Heparan_SO4_deacetylase	ENSG00000166507		0.582	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	0	46	0	G	NM_003635		75567398	-1	tier1	-	no_errors	ENST00000309979	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.120	A	A	75567398	G	A	75567398	3	1	8	1	0	0	0	0	1	0	0	0	10295	1232	43	3	1954	3	NDST2	10	75567398	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	2008499	75567398	59967349	133	2305											
BLNK	29760	genome.wustl.edu	37	chr10	97966768	97966768	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaataatagattttaccTtcacaaacacttgaagcatt	17	13	3	8	0	2	2	2	1	0	1	2	2	2	2	1	0	3	1	1	0	7	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr10:97966768T>A	ENST00000224337.5	-	11	957	c.816A>T	c.(814-816)gaA>gaT	p.E272D	BLNK_ENST00000371176.2_Splice_Site_p.E249D|BLNK_ENST00000413476.2_Splice_Site_p.E272D|BLNK_ENST00000427367.2_Splice_Site_p.E272D	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	272					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGATTTTACCTTCACAAACAC	0.308																																																	0													82	86	85					10																	97966768		2203	4300	6503	SO:0001630	splice_region_variant	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.817+1A>T	10.37:g.97966768T>A			O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.E272D	ENST00000224337.5	37	c.816	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927035	0.73327	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.63	5.63	0.86233	.	0.473283	0.25857	N	0.027858	T	0.67646	0.2915	M	0.62723	1.935	0.38564	D	0.949774	D;D;D;D;D;D	0.67145	0.986;0.996;0.986;0.974;0.977;0.994	P;D;P;P;P;P	0.63793	0.737;0.918;0.824;0.689;0.65;0.793	T	0.65578	-0.6134	9	0.13853	T	0.58	-27.9035	12.5296	0.56106	0.0:0.0:0.0:1.0	.	249;272;249;167;249;272	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	D	272;249;272;272;167	.	ENSP00000224337:E272D	E	-	3	2	BLNK	97956758	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	3.521000	0.53472	2.281000	0.76405	0.533000	0.62120	GAA	BLNK	-	NULL	ENSG00000095585		0.308	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0	81	0	T	NM_013314	Missense_Mutation	97966768	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	97966768	T	A	97966768	5	1	8	1	0	0	0	0	0	0	1	0	1449	1623	56	5	582	5	BLNK	10	97966768	Splice_Site	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	22399370	97966768	37567979	134	2306											
GFRA1	2674	genome.wustl.edu	37	chr10	117853231	117853231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaagacatgtattgtcctTgaagaaattcaaaaatttca	17	13	5	6	0	2	3	2	1	0	2	3	3	3	3	1	0	0	1	1	0	6	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr10:117853231T>C	ENST00000355422.6	-	8	1547	c.997A>G	c.(997-999)Aag>Gag	p.K333E	GFRA1_ENST00000369236.1_Missense_Mutation_p.K328E|GFRA1_ENST00000439649.3_Missense_Mutation_p.K328E|GFRA1_ENST00000544592.1_Missense_Mutation_p.K212E	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	333					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTATTGTCCTTGAAGAAATTC	0.438																																					Ovarian(128;329 1725 45498 46808 50759)												0													73	71	72					10																	117853231		2203	4300	6503	SO:0001583	missense	0			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.997A>G	10.37:g.117853231T>C	ENSP00000347591:p.Lys333Glu		A8KA21|O15507|O43912	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.K333E	ENST00000355422.6	37	c.997	CCDS44481.1	10	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236899	0.39498	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.62639	0.01;0.01	5.93	4.78	0.61160	GDNF/GAS1 (2);	0.090665	0.85682	D	0.000000	T	0.52224	0.1721	L	0.44542	1.39	0.39897	D	0.973858	B;B	0.31413	0.322;0.275	B;B	0.28465	0.09;0.049	T	0.49513	-0.8932	10	0.29301	T	0.29	-25.5222	12.8175	0.57673	0.0:0.0:0.32:0.68	.	333;328	P56159;P56159-2	GFRA1_HUMAN;.	E	333;328;328;212;328	ENSP00000358239:K328E;ENSP00000442179:K212E	ENSP00000347591:K328E	K	-	1	0	GFRA1	117843221	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.792000	0.69052	1.052000	0.40392	0.482000	0.46254	AAG	GFRA1	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2	ENSG00000151892		0.438	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	-	0	53	0	T	NM_145793		117853231	-1	tier1	-	no_errors	ENST00000355422	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	C	C	117853231	T	C	117853231	3	2	8	1	0	0	0	0	1	0	0	0	6373	1821	63	4	416	4	GFRA1	10	117853231	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	19886463	117853231	17681516	135	2307											
PHRF1	57661	genome.wustl.edu	37	chr11	608012	608012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgagaggtctggcccCggcctcctgccctctgagat	5	7	12	17	2	2	2	0	1	2	2	3	4	3	2	7	3	2	0	7	3	0	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:608012C>T	ENST00000264555.5	+	14	2684	c.2556C>T	c.(2554-2556)ccC>ccT	p.P852P	PHRF1_ENST00000413872.2_Silent_p.P850P|PHRF1_ENST00000533464.1_Silent_p.P848P|PHRF1_ENST00000416188.2_Silent_p.P851P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	852					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTCTGGCCCCGGCCTCCTGC	0.662																																																	0													54	64	60					11																	608012		2024	4173	6197	SO:0001819	synonymous_variant	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2556C>T	11.37:g.608012C>T			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P852	ENST00000264555.5	37	c.2556		11																																																																																			PHRF1	-	NULL	ENSG00000070047		0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1		0	58	0	C	NM_020901		608012	1			no_errors	ENST00000264555	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.000	T	T	608012	C	T	608012	2	4	8	1	0	0	0	0	0	0	0	1	11900	639	23	1		1	PHRF1	11	608012	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09		608012	134398504	136	2308											
MUC6	4588	genome.wustl.edu	37	chr11	1017612	1017612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggattggctggtcccactgGtggtcactgtcattggtggg	4	12	17	8	0	2	0	2	0	0	0	3	1	3	1	1	7	0	1	1	7	0	2	rs575890149		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:1017612G>C	ENST00000421673.2	-	31	5239	c.5189C>G	c.(5188-5190)aCc>aGc	p.T1730S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1730	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCCACTGGTGGTCACTGT	0.537																																																	0													430	441	437					11																	1017612		2177	4264	6441	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5189C>G	11.37:g.1017612G>C	ENSP00000406861:p.Thr1730Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.T1730S	ENST00000421673.2	37	c.5189	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	-	0.094	-1.162601	0.01673	.	.	ENSG00000184956	ENST00000421673	T	0.35236	1.32	1.66	-0.493	0.12038	.	.	.	.	.	T	0.43389	0.1245	L	0.59436	1.845	0.09310	N	1	D	0.58620	0.983	D	0.63381	0.914	T	0.39057	-0.9632	9	0.12103	T	0.63	.	6.2222	0.20687	0.3128:0.0:0.6872:0.0	.	1730	Q6W4X9	MUC6_HUMAN	S	1730	ENSP00000406861:T1730S	ENSP00000406861:T1730S	T	-	2	0	MUC6	1007612	0.033000	0.19621	0.002000	0.10522	0.016000	0.09150	1.427000	0.34881	-0.139000	0.11414	-0.819000	0.03115	ACC	MUC6	-	NULL	ENSG00000184956		0.537	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	231	0	G	XM_290540		1017612	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	41.79	78	56	SNP	0.003	C	C	1017612	G	C	1017612	3	2	8	1	0	0	0	0	1	0	0	0	10018	1261	44	5	2142	5	MUC6	11	1017612	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	409600	1017612	133988904	137	2309											
MUC5B	727897	genome.wustl.edu	37	chr11	1256435	1256435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagctttgaaggcagctgCgagtacatcttggcccaggt	9	10	12	10	1	1	1	0	1	1	0	1	2	1	1	1	3	5	4	1	3	3	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:1256435C>T	ENST00000529681.1	+	22	2809	c.2751C>T	c.(2749-2751)tgC>tgT	p.C917C	MUC5B_ENST00000447027.1_Silent_p.C920C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	917	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.|VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AAGGCAGCTGCGAGTACATCT	0.662																																																	0													80	93	88					11																	1256435		2122	4227	6349	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2751C>T	11.37:g.1256435C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.C920	ENST00000529681.1	37	c.2760	CCDS44515.2	11																																																																																			MUC5B	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,smart_VWF_type-D	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	69	0	C	XM_001126093		1256435	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	68.12	22	47	SNP	1.000	T	T	1256435	C	T	1256435	2	4	8	1	0	0	0	0	0	0	0	1	10017	776	27	1		1	MUC5B	11	1256435	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	238823	1256435	133750081	138	2310											
OR52A1	23538	genome.wustl.edu	37	chr11	5173189	5173189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaagctggtgggtgaaGatgttggcatgtcttagtgg	9	12	16	4	0	1	3	0	2	1	1	1	3	1	3	0	4	1	3	0	4	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:5173189G>T	ENST00000380367.1	-	2	828	c.411C>A	c.(409-411)atC>atA	p.I137I	OR52A1_ENST00000328942.1_Silent_p.I137I			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	137					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGGGTGAAGATGTTGGCAT	0.493																																																	0													102	87	92					11																	5173189		2201	4298	6499	SO:0001819	synonymous_variant	0			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.411C>A	11.37:g.5173189G>T			Q6IF31	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I137	ENST00000380367.1	37	c.411	CCDS31374.1	11																																																																																			OR52A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000182070		0.493	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	-	0	20	0	G	NM_012375		5173189	-1	tier1	-	no_errors	ENST00000328942	ensembl	human	known	74_37	silent	73.33	4	11	SNP	1.000	T	T	5173189	G	T	5173189	2	4	8	1	0	0	0	0	0	0	0	1	11147	932	33	3		3	OR52A1	11	5173189	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	3916754	5173189	129833327	139	2311											
HBD	3045	genome.wustl.edu	37	chr11	5254265	5254265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataggcagcctgcatttgtgGggtgaattccttgccaaagt	9	12	12	8	0	0	1	0	1	0	0	1	1	1	1	3	3	3	2	3	3	3	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:5254265G>T	ENST00000380299.3	-	3	587	c.373C>A	c.(373-375)Cca>Aca	p.P125T	HBD_ENST00000292901.3_Intron	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	125					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCATTTGTGGGGTGAATTCC	0.512																																																	0													145	122	130					11																	5254265		2201	4298	6499	SO:0001583	missense	0			AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.373C>A	11.37:g.5254265G>T	ENSP00000369654:p.Pro125Thr		Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_b,pfscan_Globin	p.P125T	ENST00000380299.3	37	c.373	CCDS31376.1	11	.	.	.	.	.	.	.	.	.	.	g	11.16	1.557065	0.27827	.	.	ENSG00000223609	ENST00000380299	D	0.94576	-3.46	4.8	2.87	0.33458	Globin-like (1);Globin, structural domain (1);	0.227084	0.45606	D	0.000343	D	0.97448	0.9165	H	0.95294	3.65	0.36673	D	0.87861	D	0.69078	0.997	D	0.72338	0.977	D	0.97300	0.9930	10	0.87932	D	0	-0.0302	7.1984	0.25866	0.0933:0.1701:0.7366:0.0	.	125	P02042	HBD_HUMAN	T	125	ENSP00000369654:P125T	ENSP00000369654:P125T	P	-	1	0	HBD	5210841	0.049000	0.20398	0.220000	0.23810	0.017000	0.09413	1.567000	0.36407	0.699000	0.31761	0.650000	0.86243	CCA	HBD	-	superfamily_Globin-like,pfscan_Globin	ENSG00000223609		0.512	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBD	HGNC	protein_coding	OTTHUMT00000142970.1	-	0	76	0	G	NM_000519		5254265	-1	tier1	-	no_errors	ENST00000380299	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.584	T	T	5254265	G	T	5254265	3	4	8	1	0	0	0	0	1	0	0	0	7006	1232	43	3	74	3	HBD	11	5254265	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	81076	5254265	129752251	140	2312											
OR5M9	390162	genome.wustl.edu	37	chr11	56230198	56230198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctgccatcggcagagCgcatgcgtagcacagctact	8	8	10	15	3	0	1	0	0	0	1	3	1	2	1	3	1	6	5	3	1	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:56230198C>T	ENST00000279791.1	-	1	679	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATCGGCAGAGCGCATGCGTAG	0.488																																																	0													60	57	58					11																	56230198		2201	4296	6497	SO:0001583	missense	0			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.680G>A	11.37:g.56230198C>T	ENSP00000279791:p.Arg227His		Q6IEW5|Q96RB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R227H	ENST00000279791.1	37	c.680	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.377218	0.01214	.	.	ENSG00000150269	ENST00000279791	T	0.39229	1.09	4.39	-4.98	0.03019	GPCR, rhodopsin-like superfamily (1);	0.791679	0.10894	N	0.622411	T	0.26122	0.0637	L	0.39692	1.235	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.35176	-0.9799	10	0.11794	T	0.64	0.5555	8.7929	0.34861	0.0988:0.3406:0.0:0.5606	.	227	Q8NGP3	OR5M9_HUMAN	H	227	ENSP00000279791:R227H	ENSP00000279791:R227H	R	-	2	0	OR5M9	55986774	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-2.450000	0.01007	-1.478000	0.01869	-1.228000	0.01579	CGC	OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000150269		0.488	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1	-	0	35	0	C	NM_001004743		56230198	-1	tier1	-	no_errors	ENST00000279791	ensembl	human	known	74_37	missense	68.75	5	11	SNP	0.000	T	T	56230198	C	T	56230198	3	4	8	1	0	0	0	0	1	0	0	0	11216	768	27	1	254	1	OR5M9	11	56230198	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	50975933	56230198	78776318	141	2313											
PRPF19	27339	genome.wustl.edu	37	chr11	60666044	60666044	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcttgatctgagagtccAtggttcctgttccaaagatg	10	13	10	8	0	2	4	0	2	2	3	5	5	5	4	3	1	0	2	3	1	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:60666044A>T	ENST00000227524.4	-	13	1314	c.1109T>A	c.(1108-1110)aTg>aAg	p.M370K		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CTGAGAGTCCATGGTTCCTGT	0.552																																																	0													105	90	95					11																	60666044		2203	4299	6502	SO:0001583	missense	0			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1109T>A	11.37:g.60666044A>T	ENSP00000227524:p.Met370Lys			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.M370K	ENST00000227524.4	37	c.1109	CCDS7995.1	11	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718732	0.30503	.	.	ENSG00000110107	ENST00000227524;ENST00000535326;ENST00000541371	T;T;T	0.58940	0.3;0.3;1.66	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.146577	0.64402	D	0.000004	T	0.36496	0.0969	N	0.12527	0.23	0.38398	D	0.945594	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.07175	T	0.84	-29.9687	14.8627	0.70392	1.0:0.0:0.0:0.0	.	370	Q9UMS4	PRP19_HUMAN	K	370;42;242	ENSP00000227524:M370K;ENSP00000445435:M42K;ENSP00000440266:M242K	ENSP00000227524:M370K	M	-	2	0	PRPF19	60422620	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.416000	0.66417	2.168000	0.68352	0.533000	0.62120	ATG	PRPF19	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000110107		0.552	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF19	HGNC	protein_coding	OTTHUMT00000396334.1	-	0	45	0	A	NM_014502		60666044	-1	tier1	-	no_errors	ENST00000227524	ensembl	human	known	74_37	missense	12.12	28	4	SNP	1.000	T	T	60666044	A	T	60666044	3	4	8	1	0	0	0	0	1	0	0	0	12606	217	8	5	421	5	PRPF19	11	60666044	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	4435846	60666044	74340472	142	2314											
C11orf66	220004	genome.wustl.edu	37	chr11	61253310	61253310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcggcgcaaaggaggggaGtggcttcaccaaacagtccc	11	5	14	11	2	1	0	1	0	0	0	3	3	2	2	2	5	1	2	2	5	2	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:61253310G>T	ENST00000338608.2	+	7	739	c.614G>T	c.(613-615)aGt>aTt	p.S205I	PPP1R32_ENST00000432063.2_Missense_Mutation_p.S205I	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	205							phosphatase binding (GO:0019902)										AAGGAGGGGAGTGGCTTCACC	0.592																																																	0													76	76	76					11																	61253310		2202	4299	6501	SO:0001583	missense	0			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	28869	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 66"	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.614G>T	11.37:g.61253310G>T	ENSP00000344140:p.Ser205Ile		Q4G0P4|Q96M77	Missense_Mutation	SNP	NULL	p.S205I	ENST00000338608.2	37	c.614	CCDS8008.1	11	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442540	0.25987	.	.	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.60920	0.15;0.68	4.77	2.89	0.33648	.	0.212906	0.32518	N	0.005986	T	0.49695	0.1572	L	0.52573	1.65	0.53688	D	0.999973	P;P	0.49090	0.815;0.919	B;B	0.43575	0.252;0.424	T	0.39800	-0.9596	9	.	.	.	-13.5269	8.6959	0.34296	0.1643:0.6621:0.1736:0.0	.	205;205	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	I	205	ENSP00000391560:S205I;ENSP00000344140:S205I	.	S	+	2	0	C11orf66	61009886	0.577000	0.26708	0.204000	0.23530	0.001000	0.01503	0.811000	0.27198	0.426000	0.26116	-0.379000	0.06801	AGT	PPP1R32	-	NULL	ENSG00000162148		0.592	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R32	HGNC	protein_coding	OTTHUMT00000398621.1	-	0	36	0	G	NM_145017		61253310	1	tier1	-	no_errors	ENST00000338608	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.704	T	T	61253310	G	T	61253310	3	4	8	1	0	0	0	0	1	0	0	0	1661	1029	36	3	636	3	C11orf66	11	61253310	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	587266	61253310	73753206	143	2315											
ADRBK1	156	genome.wustl.edu	37	chr11	67052330	67052330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcctcagactacgccctggGcaaggactgcatcatgcatg	9	7	11	14	2	2	1	2	0	0	1	2	2	2	2	2	2	3	3	2	2	2	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:67052330G>A	ENST00000308595.5	+	19	1957	c.1667G>A	c.(1666-1668)gGc>gAc	p.G556D	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	556					activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TACGCCCTGGGCAAGGACTGC	0.587																																																	0													81	59	66					11																	67052330		2199	4295	6494	SO:0001583	missense	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1667G>A	11.37:g.67052330G>A	ENSP00000312262:p.Gly556Asp		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.G556D	ENST00000308595.5	37	c.1667	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490094	0.44249	.	.	ENSG00000173020	ENST00000308595	T	0.56444	0.46	4.27	3.34	0.38264	.	0.146914	0.31922	N	0.006848	T	0.44307	0.1287	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.33369	-0.9871	10	0.29301	T	0.29	-18.3517	13.9671	0.64216	0.0:0.1537:0.8463:0.0	.	556	P25098	ARBK1_HUMAN	D	556	ENSP00000312262:G556D	ENSP00000312262:G556D	G	+	2	0	ADRBK1	66808906	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.631000	0.90991	1.117000	0.41842	0.591000	0.81541	GGC	ADRBK1	-	NULL	ENSG00000173020		0.587	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1		0	91	0	G	NM_001619		67052330	1			no_errors	ENST00000308595	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	67052330	G	A	67052330	3	1	8	1	0	0	0	0	1	0	0	0	343	1203	42	3	1741	3	ADRBK1	11	67052330	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	5799020	67052330	67954186	144	2316											
GAB2	9846	genome.wustl.edu	37	chr11	77991745	77991745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccaccaggtaaaaggtgCgttcactggtcttgatgtca	10	10	11	10	1	3	1	2	1	1	0	3	1	3	1	2	3	2	2	2	3	2	3	rs114762524		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:77991745C>T	ENST00000361507.4	-	2	363	c.278G>A	c.(277-279)cGc>cAc	p.R93H	GAB2_ENST00000526030.1_5'UTR|GAB2_ENST00000340149.2_Missense_Mutation_p.R55H	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GTAAAAGGTGCGTTCACTGGT	0.488													C|||	1	0.000199681	0	0	5008	,	,		20236	0		0.001	False		,,,				2504	0																0													210	179	190					11																	77991745		2200	4292	6492	SO:0001583	missense	0			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.278G>A	11.37:g.77991745C>T	ENSP00000354952:p.Arg93His		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R93H	ENST00000361507.4	37	c.278	CCDS8259.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	34	5.295606	0.95574	.	.	ENSG00000033327	ENST00000340149;ENST00000361507;ENST00000528886;ENST00000530915	T;T;T;T	0.80566	-1.39;2.26;-1.39;-1.02	5.37	5.37	0.77165	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	D	0.91707	0.7378	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92798	0.6254	10	0.87932	D	0	-14.6409	19.4818	0.95013	0.0:1.0:0.0:0.0	.	93	Q9UQC2	GAB2_HUMAN	H	55;93;55;55	ENSP00000343959:R55H;ENSP00000354952:R93H;ENSP00000433762:R55H;ENSP00000431868:R55H	ENSP00000343959:R55H	R	-	2	0	GAB2	77669393	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.776000	0.85560	2.667000	0.90743	0.563000	0.77884	CGC	GAB2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000033327		0.488	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	HGNC	protein_coding	OTTHUMT00000391085.1		0	90	0	C	NM_080491		77991745	-1			no_errors	ENST00000361507	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	77991745	C	T	77991745	3	4	8	1	0	0	0	0	1	0	0	0	6173	768	27	1	1788	1	GAB2	11	77991745	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	10939415	77991745	57014771	145	2317											
FAT3	120114	genome.wustl.edu	37	chr11	92531188	92531188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgacaattctcaccccaAgttcattcacaaagactacc	13	10	4	14	0	4	2	3	1	2	1	5	2	4	2	3	0	1	1	3	0	4	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:92531188A>C	ENST00000298047.6	+	9	5026	c.5009A>C	c.(5008-5010)aAg>aCg	p.K1670T	FAT3_ENST00000525166.1_Missense_Mutation_p.K1520T|FAT3_ENST00000409404.2_Missense_Mutation_p.K1670T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1670	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTCACCCCAAGTTCATTCAC	0.423										TCGA Ovarian(4;0.039)																																							0													104	103	103					11																	92531188		1982	4164	6146	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5009A>C	11.37:g.92531188A>C	ENSP00000298047:p.Lys1670Thr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.K1670T	ENST00000298047.6	37	c.5009		11	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880202	0.72294	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60548	0.18;0.18;0.18	5.93	3.62	0.41486	.	.	.	.	.	T	0.55737	0.1939	L	0.39692	1.235	0.80722	D	1	D	0.56287	0.975	P	0.52386	0.697	T	0.48681	-0.9014	9	0.32370	T	0.25	.	10.1965	0.43058	0.8659:0.0:0.1341:0.0	.	1670	Q8TDW7-3	.	T	1670;1670;1520	ENSP00000298047:K1670T;ENSP00000387040:K1670T;ENSP00000432586:K1520T	ENSP00000298047:K1670T	K	+	2	0	FAT3	92170836	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	5.287000	0.65645	0.502000	0.28037	0.482000	0.46254	AAG	FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.423	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	41	0	A	NM_001008781		92531188	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	60.71	11	17	SNP	1.000	C	C	92531188	A	C	92531188	3	2	8	1	0	0	0	0	1	0	0	0	5713	72	3	4	5043	4	FAT3	11	92531188	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	14539443	92531188	42475328	146	2318											
FAT3	120114	genome.wustl.edu	37	chr11	92534875	92534875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggtggcctctgaccttgGagaggcattctctctttcct	4	15	11	11	0	3	2	0	1	3	1	5	3	4	2	3	4	0	1	3	4	0	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:92534875G>T	ENST00000298047.6	+	9	8713	c.8696G>T	c.(8695-8697)gGa>gTa	p.G2899V	FAT3_ENST00000525166.1_Missense_Mutation_p.G2749V|FAT3_ENST00000409404.2_Missense_Mutation_p.G2899V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2899	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTGACCTTGGAGAGGCATTC	0.507										TCGA Ovarian(4;0.039)																																							0													104	104	104					11																	92534875		2096	4224	6320	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8696G>T	11.37:g.92534875G>T	ENSP00000298047:p.Gly2899Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G2899V	ENST00000298047.6	37	c.8696		11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217449	0.79352	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.06218	3.33;3.33;3.33	6.04	6.04	0.98038	.	.	.	.	.	T	0.45657	0.1353	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.65911	-0.6053	9	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2899	Q8TDW7-3	.	V	2899;2899;2749	ENSP00000298047:G2899V;ENSP00000387040:G2899V;ENSP00000432586:G2749V	ENSP00000298047:G2899V	G	+	2	0	FAT3	92174523	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.951000	0.87819	2.873000	0.98535	0.563000	0.77884	GGA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.507	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	28	0	G	NM_001008781		92534875	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T	T	92534875	G	T	92534875	3	4	8	1	0	0	0	0	1	0	0	0	5713	1174	41	3	8730	3	FAT3	11	92534875	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	3687	92534875	42471641	147	2319											
PHLDB1	23187	genome.wustl.edu	37	chr11	118516323	118516323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcatggagaccagcaTctccaccgggggcaactcgg	10	5	13	13	2	1	2	0	1	1	1	3	3	1	2	3	4	3	3	3	4	1	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:118516323T>C	ENST00000361417.2	+	17	3782	c.3371T>C	c.(3370-3372)aTc>aCc	p.I1124T	PHLDB1_ENST00000524713.1_Missense_Mutation_p.I267T|PHLDB1_ENST00000356063.5_Missense_Mutation_p.I1077T|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.I175T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1124										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GAGACCAGCATCTCCACCGGG	0.657																																																	0													86	83	84					11																	118516323		2200	4295	6495	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3371T>C	11.37:g.118516323T>C	ENSP00000354498:p.Ile1124Thr		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I1124T	ENST00000361417.2	37	c.3371	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814149	0.70912	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.25	5.25	0.73442	.	0.318671	0.35585	N	0.003114	T	0.69396	0.3106	M	0.68317	2.08	0.49483	D	0.999793	P;P;P;P;P	0.51449	0.867;0.82;0.945;0.868;0.94	P;P;P;P;P	0.55545	0.463;0.573;0.778;0.467;0.497	T	0.73049	-0.4105	10	0.62326	D	0.03	-21.1884	15.1756	0.72907	0.0:0.0:0.0:1.0	.	267;488;883;1077;1124	B4DK17;B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;.;PHLB1_HUMAN	T	1124;898;488;1077;175;267	ENSP00000354498:I1124T;ENSP00000348359:I1077T;ENSP00000435388:I175T;ENSP00000434905:I267T	ENSP00000348359:I1077T	I	+	2	0	PHLDB1	118021533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.623000	0.67757	1.981000	0.57761	0.533000	0.62120	ATC	PHLDB1	-	NULL	ENSG00000019144		0.657	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1		0	62	0	T	NM_015157		118516323	1			no_errors	ENST00000361417	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	C	C	118516323	T	C	118516323	3	2	8	1	0	0	0	0	1	0	0	0	11890	1435	50	4	3429	4	PHLDB1	11	118516323	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	25981448	118516323	16490193	148	2320											
SLC37A2	219855	genome.wustl.edu	37	chr11	124946707	124946707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttacgcctgctatcacatGtccaggaagcctatcagtat	11	12	7	11	1	2	0	2	0	0	0	3	1	3	1	3	1	3	2	3	1	5	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr11:124946707G>T	ENST00000403796.2	+	2	415	c.114G>T	c.(112-114)atG>atT	p.M38I	SLC37A2_ENST00000407458.1_Missense_Mutation_p.M38I|SLC37A2_ENST00000298280.5_Missense_Mutation_p.M38I|SLC37A2_ENST00000308074.4_Missense_Mutation_p.M38I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	38					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCTATCACATGTCCAGGAAGC	0.562																																					Melanoma(11;373 620 21213 26083 47768)												0													182	131	149					11																	124946707		2201	4299	6500	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.114G>T	11.37:g.124946707G>T	ENSP00000384407:p.Met38Ile		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M38I	ENST00000403796.2	37	c.114	CCDS44757.1	11	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678098	0.47886	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000298280;ENST00000532000;ENST00000308074	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.93;0.35	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.105005	0.64402	D	0.000003	T	0.56601	0.1996	M	0.76002	2.32	0.40232	D	0.977855	B;B	0.23249	0.082;0.022	B;B	0.28139	0.086;0.06	T	0.56456	-0.7976	10	0.44086	T	0.13	-38.4453	15.2137	0.73247	0.0:0.1817:0.8183:0.0	.	38;38	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	I	38;38;38;1;38	ENSP00000384407:M38I;ENSP00000385126:M38I;ENSP00000298280:M38I;ENSP00000432254:M1I;ENSP00000311833:M38I	ENSP00000298280:M38I	M	+	3	0	SLC37A2	124451917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.835000	0.27531	2.633000	0.89246	0.655000	0.94253	ATG	SLC37A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000134955		0.562	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	HGNC	protein_coding	OTTHUMT00000386837.1	-	0	61	0	G	XM_166184		124946707	1	tier1	-	no_errors	ENST00000308074	ensembl	human	known	74_37	missense	56.67	26	34	SNP	1.000	T	T	124946707	G	T	124946707	3	4	8	1	0	0	0	0	1	0	0	0	14643	1377	48	3	120	3	SLC37A2	11	124946707	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	6430384	124946707	10059809	149	2321											
CACNA1C	775	genome.wustl.edu	37	chr12	2666138	2666138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccggatctccaagtcaaaGttcaggtgagtgagactcac	12	8	10	11	1	4	2	3	2	1	1	5	4	4	3	2	2	0	1	2	2	2	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:2666138G>T	ENST00000347598.4	+	11	1503	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	CACNA1C_ENST00000399621.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K526N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K501N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K501N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K501N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K501N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	501					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K501N(3)|p.K36N(1)|p.K531N(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAAGTCAAAGTTCAGGTGAG	0.493																																																	5	Substitution - Missense(5)	lung(5)											92	88	89					12																	2666138		1929	4134	6063	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1503G>T	12.37:g.2666138G>T	ENSP00000266376:p.Lys501Asn		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.K501N	ENST00000347598.4	37	c.1503	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646861	0.67358	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.05	3.1	0.35709	.	1.031700	0.07717	N	0.943060	D	0.96364	0.8814	M	0.80508	2.5	0.51767	D	0.999934	P;D;D;P;D;D;D;D;P;D;D;P;B;D;B;D;B;B;B;B;P;B;B;P;B;P	0.71674	0.865;0.998;0.993;0.683;0.997;0.998;0.993;0.996;0.573;0.975;0.998;0.952;0.109;0.992;0.068;0.993;0.138;0.067;0.164;0.09;0.952;0.164;0.164;0.952;0.021;0.952	B;D;P;B;D;D;P;D;B;P;D;P;B;D;B;P;B;B;B;B;P;B;B;P;B;P	0.81914	0.377;0.995;0.835;0.265;0.995;0.916;0.835;0.916;0.257;0.804;0.916;0.709;0.061;0.916;0.014;0.826;0.022;0.037;0.067;0.137;0.709;0.067;0.067;0.709;0.006;0.709	D	0.90557	0.4513	10	0.72032	D	0.01	.	8.2008	0.31424	0.3447:0.0:0.6553:0.0	.	170;501;498;501;501;501;501;501;501;501;501;501;472;501;501;501;501;501;501;501;501;501;501;501;501;501	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	526;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;501;342	ENSP00000336982:K526N;ENSP00000382563:K501N;ENSP00000437936:K501N;ENSP00000382552:K501N;ENSP00000382547:K501N;ENSP00000382506:K501N;ENSP00000382530:K501N;ENSP00000382546:K501N;ENSP00000382500:K501N;ENSP00000382549:K501N;ENSP00000266376:K501N;ENSP00000382515:K501N;ENSP00000382510:K501N;ENSP00000341092:K501N;ENSP00000382537:K501N;ENSP00000329877:K501N;ENSP00000382557:K501N;ENSP00000385724:K501N;ENSP00000382512:K501N;ENSP00000382542:K501N;ENSP00000382526:K501N;ENSP00000385896:K501N;ENSP00000382504:K501N	ENSP00000323129:K342N	K	+	3	2	CACNA1C	2536399	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	2.558000	0.45879	0.537000	0.28751	0.655000	0.94253	AAG	CACNA1C	-	prints_VDCC_L_a1su	ENSG00000151067		0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	25	0	G	NM_000719		2666138	1			no_errors	ENST00000399634	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	2666138	G	T	2666138	3	4	8	1	0	0	0	0	1	0	0	0	2547	1020	36	3	1653	3	CACNA1C	12	2666138	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		2666138	131185757	150	2322											
ATN1	1822	genome.wustl.edu	37	chr12	7045860	7045860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccgcccacccaccagtctCaacacatcaccatcaccacc	12	4	2	23	1	3	0	3	0	1	0	4	0	3	0	7	0	1	0	7	0	1	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:7045860C>T	ENST00000356654.4	+	5	1667	c.1430C>T	c.(1429-1431)tCa>tTa	p.S477L	ATN1_ENST00000396684.2_Missense_Mutation_p.S477L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	477					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCACCAGTCTCAACACATCAC	0.632																																																	0													109	120	116					12																	7045860		2203	4300	6503	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1430C>T	12.37:g.7045860C>T	ENSP00000349076:p.Ser477Leu		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.S477L	ENST00000356654.4	37	c.1430	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.904663	0.00512	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.44083	0.93;0.93;0.93	3.88	1.97	0.26223	.	1.837880	0.03733	N	0.253792	T	0.28764	0.0713	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.14924	-1.0455	10	0.22706	T	0.39	.	4.9215	0.13872	0.3693:0.5257:0.0:0.1051	.	477;477	Q86V38;P54259	.;ATN1_HUMAN	L	477;477;477;62	ENSP00000349076:S477L;ENSP00000379915:S477L;ENSP00000441744:S477L	ENSP00000229279:S62L	S	+	2	0	ATN1	6916121	0.000000	0.05858	0.012000	0.15200	0.010000	0.07245	-0.164000	0.09983	0.229000	0.21039	-0.301000	0.09380	TCA	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	-	0	98	0	C	NM_001940		7045860	1	tier1	-	no_errors	ENST00000356654	ensembl	human	known	74_37	missense	18.82	69	16	SNP	0.056	T	T	7045860	C	T	7045860	3	4	8	1	0	0	0	0	1	0	0	0	1112	838	29	3	1444	3	ATN1	12	7045860	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4379722	7045860	126806035	151	2323											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20874909	20874909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcctctgagaaatccaAgtttattatagatgatcaca	13	15	5	8	0	3	3	1	2	2	2	5	4	5	3	2	0	0	1	2	0	5	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:20874909A>G	ENST00000266509.2	+	8	1315	c.947A>G	c.(946-948)aAg>aGg	p.K316R	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.K198R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.K267R|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.K316R|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.K316R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	316					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GAGAAATCCAAGTTTATTATA	0.368																																																	0													56	59	58					12																	20874909		2202	4300	6502	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.947A>G	12.37:g.20874909A>G	ENSP00000266509:p.Lys316Arg		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.K316R	ENST00000266509.2	37	c.947	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614329	0.28712	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	4.76	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.501234	0.22311	N	0.061729	T	0.25901	0.0631	L	0.37466	1.105	0.32180	N	0.580427	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.002;0.001;0.002;0.003	T	0.20773	-1.0265	10	0.16896	T	0.51	.	4.7032	0.12837	0.6646:0.1615:0.1739:0.0	.	198;267;316;316	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	R	316;267;316;316;198	ENSP00000444149:K316R;ENSP00000438665:K267R;ENSP00000266509:K316R;ENSP00000370964:K316R;ENSP00000444527:K198R	ENSP00000266509:K316R	K	+	2	0	SLCO1C1	20766176	1.000000	0.71417	0.985000	0.45067	0.891000	0.51852	1.807000	0.38902	0.382000	0.24878	0.460000	0.39030	AAG	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.368	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	58	0	A	NM_017435		20874909	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.988	G	G	20874909	A	G	20874909	3	3	8	1	0	0	0	0	1	0	0	0	14770	72	3	4	973	4	SLCO1C1	12	20874909	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	13829049	20874909	112976986	152	2324											
OR8S1	341568	genome.wustl.edu	37	chr12	48920224	48920224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaggttcccccatagagttGatcttctctgtgcagtatac	8	14	8	11	0	3	2	1	1	2	1	5	2	4	2	2	1	2	4	2	1	3	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:48920224G>C	ENST00000310194.1	+	1	810	c.810G>C	c.(808-810)ttG>ttC	p.L270F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CCATAGAGTTGATCTTCTCTG	0.478																																																	0													87	84	85					12																	48920224		2203	4300	6503	SO:0001583	missense	0				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"GPCR / Class A : Olfactory receptors"	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.810G>C	12.37:g.48920224G>C	ENSP00000310632:p.Leu270Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L270F	ENST00000310194.1	37	c.810	CCDS31789.1	12	.	.	.	.	.	.	.	.	.	.	G	4.437	0.080822	0.08533	.	.	ENSG00000197376	ENST00000310194	T	0.00220	8.52	4.71	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.243970	0.21377	N	0.075533	T	0.00210	0.0006	M	0.66939	2.045	0.09310	N	1	B	0.20887	0.049	B	0.26614	0.071	T	0.36089	-0.9762	10	0.87932	D	0	-22.4997	5.7312	0.18040	0.297:0.0:0.703:0.0	.	270	Q8NH09	OR8S1_HUMAN	F	270	ENSP00000310632:L270F	ENSP00000310632:L270F	L	+	3	2	OR8S1	47206491	0.000000	0.05858	0.065000	0.19835	0.935000	0.57460	-0.812000	0.04496	1.344000	0.45657	0.655000	0.94253	TTG	OR8S1	-	pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197376		0.478	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1	-	0	46	0	G			48920224	1	tier1	-	no_errors	ENST00000310194	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.001	C	C	48920224	G	C	48920224	3	2	8	1	0	0	0	0	1	0	0	0	11285	1281	45	5	812	5	OR8S1	12	48920224	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	28045315	48920224	84931671	153	2325											
MLL2	8085	genome.wustl.edu	37	chr12	49427264	49427264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaggtgctgctgctgctGttgctgctgctgctgctgct	3	14	14	10	0	0	1	0	0	0	1	0	1	0	1	0	1	10	11	0	1	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:49427264G>T	ENST00000301067.7	-	39	11223	c.11224C>A	c.(11224-11226)Cag>Aag	p.Q3742K	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3742	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										tgctgctgctgttgctgctgc	0.587																																																	0													15	18	17					12																	49427264		2196	4294	6490	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11224C>A	12.37:g.49427264G>T	ENSP00000301067:p.Gln3742Lys		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3742K	ENST00000301067.7	37	c.11224	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	3.358	-0.131143	0.06753	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	5.11	5.11	0.69529	.	0.000000	0.33180	N	0.005189	T	0.60676	0.2287	N	0.08118	0	0.33097	D	0.538768	P	0.37864	0.61	B	0.32393	0.145	T	0.74506	-0.3643	10	0.87932	D	0	.	17.6784	0.88236	0.0:0.0:1.0:0.0	.	3742	O14686	MLL2_HUMAN	K	3742	ENSP00000301067:Q3742K	ENSP00000301067:Q3742K	Q	-	1	0	MLL2	47713531	0.916000	0.31088	0.998000	0.56505	0.192000	0.23643	3.000000	0.49481	2.547000	0.85894	0.462000	0.41574	CAG	KMT2D	-	NULL	ENSG00000167548		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	44	0	G			49427264	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.998	T	T	49427264	G	T	49427264	3	4	8	1	0	0	0	0	1	0	0	0	9659	1386	48	3	5453	3	MLL2	12	49427264	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	507040	49427264	84424631	154	2326											
SCN8A	6334	genome.wustl.edu	37	chr12	52080158	52080158	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactcttctctacagtattTagcatgatcattatgtgcac	10	16	6	9	0	3	2	1	2	2	0	4	2	3	2	0	0	3	3	0	0	4	6	rs559668426		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:52080158T>C	ENST00000354534.6	+	4	580	c.402T>C	c.(400-402)ttT>ttC	p.F134F	SCN8A_ENST00000545061.1_Silent_p.F134F|SCN8A_ENST00000550891.1_Silent_p.F134F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	134					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTACAGTATTTAGCATGATCA	0.358																																																	0													162	143	149					12																	52080158		2000	4217	6217	SO:0001819	synonymous_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.402T>C	12.37:g.52080158T>C			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.F134	ENST00000354534.6	37	c.402	CCDS44891.1	12																																																																																			SCN8A	-	NULL	ENSG00000196876		0.358	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	105	0	T	NM_014191		52080158	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	C	C	52080158	T	C	52080158	2	2	8	1	0	0	0	0	0	0	0	1	13969	1751	61	4		4	SCN8A	12	52080158	Silent	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	2652894	52080158	81771737	155	2327											
E2F7	144455	genome.wustl.edu	37	chr12	77421832	77421832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttctgcagcagggagttgGccattcacatgaatgtcttt	8	14	10	9	0	4	1	1	1	3	0	4	2	4	2	1	2	2	3	1	2	1	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:77421832G>A	ENST00000322886.7	-	11	2206	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	E2F7_ENST00000416496.2_Silent_p.G657G	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	657					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGGGAGTTGGCCATTCACAT	0.448																																																	0													116	109	111					12																	77421832		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1971C>T	12.37:g.77421832G>A			A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Silent	SNP	pfam_E2F_TDP	p.G657	ENST00000322886.7	37	c.1971	CCDS9016.1	12																																																																																			E2F7	-	NULL	ENSG00000165891		0.448	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1		0	60	0	G	XM_084871		77421832	-1			no_errors	ENST00000322886	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.000	A	A	77421832	G	A	77421832	2	1	8	1	0	0	0	0	0	0	0	1	4886	1190	42	3		3	E2F7	12	77421832	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	25341674	77421832	56430063	156	2328											
ACSS3	79611	genome.wustl.edu	37	chr12	81648634	81648634	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccctaattttttttccAgataacttctacaattgaag	12	16	4	9	0	1	3	0	2	1	1	2	3	2	3	2	0	2	0	2	0	5	9			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:81648634A>G	ENST00000548058.1	+	16	2905		c.e16-1		ACSS3_ENST00000261206.3_Splice_Site|ACSS3_ENST00000548324.1_Splice_Site			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3							mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TTTTTTTTCCAGATAACTTCT	0.333																																																	0													81	87	85					12																	81648634		2203	4299	6502	SO:0001630	splice_region_variant	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1996-1A>G	12.37:g.81648634A>G			Q8NC66	Splice_Site	SNP	-	e16-2	ENST00000548058.1	37	c.1996-2	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644124	0.29246	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4116	0.83717	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACSS3	80172765	1.000000	0.71417	0.575000	0.28536	0.043000	0.13939	6.243000	0.72384	2.276000	0.75962	0.528000	0.53228	.	ACSS3	-	-	ENSG00000111058		0.333	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	117	0	A	NM_024560	Intron	81648634	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	splice_site	8.70	63	6	SNP	1.000	G	G	81648634	A	G	81648634	5	3	8	1	0	0	0	0	0	0	1	0	190	202	7	4	2056	4	ACSS3	12	81648634	Splice_Site	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	4226802	81648634	52203261	157	2329											
ULK1	8408	genome.wustl.edu	37	chr12	132402064	132402064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccccgagcgggagcaCgcccccccagggcccccgca	5	2	11	23	4	1	0	0	0	1	0	2	2	1	1	7	2	2	2	7	2	0	0	rs540597298		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr12:132402064C>T	ENST00000321867.4	+	22	2642	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	764					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGCGGGAGCACGCCCCCCCAG	0.716													-|||	1	0.000199681	0	0.0014	5008	,	,		10961	0		0	False		,,,				2504	0																0													9	12	11					12																	132402064		2169	4262	6431	SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.2291C>T	12.37:g.132402064C>T	ENSP00000324560:p.Thr764Met		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T764M	ENST00000321867.4	37	c.2291	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	c	18.89	3.720213	0.68844	.	.	ENSG00000177169	ENST00000321867;ENST00000541761	T;T	0.54866	0.55;0.55	4.65	4.65	0.58169	.	0.294485	0.33253	N	0.005111	T	0.68686	0.3028	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	P	0.59115	0.852	T	0.73833	-0.3858	10	0.66056	D	0.02	-23.8672	17.8905	0.88870	0.0:1.0:0.0:0.0	.	764	O75385	ULK1_HUMAN	M	764;112	ENSP00000324560:T764M;ENSP00000444298:T112M	ENSP00000324560:T764M	T	+	2	0	ULK1	130968017	1.000000	0.71417	0.908000	0.35775	0.317000	0.28152	7.217000	0.77982	2.277000	0.76020	0.424000	0.28305	ACG	ULK1	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.716	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	-	0	99	0	C			132402064	1	tier1	-	no_errors	ENST00000321867	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.999	T	T	132402064	C	T	132402064	3	4	8	1	0	0	0	0	1	0	0	0	17024	536	19	1	2377	1	ULK1	12	132402064	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	50753430	132402064	1449831	158	2330											
FRY	10129	genome.wustl.edu	37	chr13	32735315	32735315	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatagatcttttcaggAcctgtgttgctgctattcct	10	15	7	9	0	2	1	1	0	1	1	3	2	3	2	2	1	2	3	2	1	4	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:32735315A>T	ENST00000380250.3	+	17	2315	c.1819A>T	c.(1819-1821)Acc>Tcc	p.T607S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	607						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCTTTTCAGGACCTGTGTTGC	0.348																																																	0													174	159	164					13																	32735315		1878	4101	5979	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1819A>T	13.37:g.32735315A>T	ENSP00000369600:p.Thr607Ser		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T607S	ENST00000380250.3	37	c.1819	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	A	32	5.120735	0.94385	.	.	ENSG00000073910	ENST00000380250	T	0.64438	-0.1	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82502	-0.0425	10	0.38643	T	0.18	.	15.9192	0.79547	1.0:0.0:0.0:0.0	.	607	Q5TBA9	FRY_HUMAN	S	607	ENSP00000369600:T607S	ENSP00000369600:T607S	T	+	1	0	FRY	31633315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.164000	0.68074	0.533000	0.62120	ACC	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.348	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0	62	0	A	NM_023037		32735315	1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	32735315	A	T	32735315	3	4	8	1	0	0	0	0	1	0	0	0	6087	275	10	5	1885	5	FRY	13	32735315	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09		32735315	82434563	159	2331											
SPG20	23111	genome.wustl.edu	37	chr13	36909223	36909223	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccaaaaacctcacaattcGaaggtacccaggatacgaag	17	6	7	11	2	1	0	1	0	0	0	3	3	2	1	3	2	3	1	3	2	7	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:36909223G>A	ENST00000451493.1	-	2	962	c.745C>T	c.(745-747)Cga>Tga	p.R249*	SPG20_ENST00000355182.4_Nonsense_Mutation_p.R249*|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Nonsense_Mutation_p.R249*|SPG20_ENST00000494062.2_Nonsense_Mutation_p.R249*	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	249					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTCACAATTCGAAGGTACCCA	0.403																																																	0													86	91	89					13																	36909223		2203	4300	6503	SO:0001587	stop_gained	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.745C>T	13.37:g.36909223G>A	ENSP00000414147:p.Arg249*		O60349|Q86Y67|Q9H1T2|Q9H1T3	Nonsense_Mutation	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.R249*	ENST00000451493.1	37	c.745	CCDS9356.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.686858	0.98434	.	.	ENSG00000133104	ENST00000438666;ENST00000355182;ENST00000451493;ENST00000423217	.	.	.	5.82	1.91	0.25777	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5207	9.8275	0.40921	0.0626:0.0:0.5826:0.3548	.	.	.	.	X	249	.	ENSP00000347314:R249X	R	-	1	2	SPG20	35807223	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.976000	0.63785	0.327000	0.23409	0.650000	0.86243	CGA	SPG20	-	NULL	ENSG00000133104		0.403	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	-	0	67	0	G			36909223	-1	tier1	-	no_errors	ENST00000355182	ensembl	human	known	74_37	nonsense	33.96	35	18	SNP	1.000	A	A	36909223	G	A	36909223	4	1	8	1	0	0	0	0	0	1	0	0	15089	1066	37	1	1287	1	SPG20	13	36909223	Nonsense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	4173908	36909223	78260655	160	2332											
FAM48A	55578	genome.wustl.edu	37	chr13	37603914	37603914	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacatgggctggccaGactgttggctgtgagtcatc	6	14	12	9	0	2	2	1	1	1	1	3	2	2	2	1	3	1	3	1	3	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:37603914G>T	ENST00000350612.6	-	13	1201	c.981C>A	c.(979-981)gtC>gtA	p.V327V	SUPT20H_ENST00000464744.1_Silent_p.V328V|SUPT20H_ENST00000356185.3_Silent_p.V328V|SUPT20H_ENST00000475892.1_Silent_p.V327V|SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000360252.4_Silent_p.V328V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	327					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										GGGCTGGCCAGACTGTTGGCT	0.358																																																	0													128	120	122					13																	37603914		2203	4300	6503	SO:0001819	synonymous_variant	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.981C>A	13.37:g.37603914G>T			E7ER46|Q71RF3|Q9Y6A6	Silent	SNP	pfam_Spt20	p.V327	ENST00000350612.6	37	c.981	CCDS31959.1	13																																																																																			SUPT20H	-	NULL	ENSG00000102710		0.358	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT20H	HGNC	protein_coding	OTTHUMT00000354766.1	-	0	59	0	G	NM_017569		37603914	-1	tier1	-	no_errors	ENST00000350612	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.979	T	T	37603914	G	T	37603914	2	4	8	1	0	0	0	0	0	0	0	1	5594	929	33	3		3	FAM48A	13	37603914	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	694691	37603914	77565964	161	2333											
KIAA0564	23078	genome.wustl.edu	37	chr13	42263545	42263545	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttttctcatctgagagaAttctgttgggagaggcaatc	11	14	10	6	0	3	3	1	1	3	2	5	5	3	3	0	2	0	2	0	2	3	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:42263545A>T	ENST00000379310.3	-	34	4144	c.4076T>A	c.(4075-4077)aTt>aAt	p.I1359N	VWA8_ENST00000478987.1_5'Flank	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1359						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATCTGAGAGAATTCTGTTGGG	0.358																																																	0													109	99	102					13																	42263545		1821	4080	5901	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4076T>A	13.37:g.42263545A>T	ENSP00000368612:p.Ile1359Asn		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.I1359N	ENST00000379310.3	37	c.4076	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395914	0.83011	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.13420	2.59	4.98	4.98	0.66077	.	0.343360	0.27951	N	0.017199	T	0.19644	0.0472	L	0.54323	1.7	0.80722	D	1	P	0.44195	0.828	B	0.44085	0.44	T	0.01218	-1.1415	10	0.72032	D	0.01	.	14.9486	0.71054	1.0:0.0:0.0:0.0	.	1359	A3KMH1	K0564_HUMAN	N	1263;1359	ENSP00000368612:I1359N	ENSP00000251030:I1263N	I	-	2	0	KIAA0564	41161545	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.532000	0.90613	1.994000	0.58287	0.477000	0.44152	ATT	VWA8	-	NULL	ENSG00000102763		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	-	0	55	0	A	NM_015058		42263545	-1	tier1	-	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	T	T	42263545	A	T	42263545	3	4	8	1	0	0	0	0	1	0	0	0	8212	101	4	5	1689	5	KIAA0564	13	42263545	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	4659631	42263545	72906333	162	2334											
AKAP11	11215	genome.wustl.edu	37	chr13	42887235	42887235	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttagaaggagatttgtatGaggacaatttatcctttcca	12	15	9	5	0	0	3	0	1	0	2	2	5	2	4	2	2	0	2	2	2	5	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:42887235G>T	ENST00000025301.2	+	10	5501	c.5326G>T	c.(5326-5328)Gag>Tag	p.E1776*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1776					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGATTTGTATGAGGACAATTT	0.393																																																	0													135	122	126					13																	42887235		2203	4300	6503	SO:0001587	stop_gained	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5326G>T	13.37:g.42887235G>T	ENSP00000025301:p.Glu1776*		O75124|Q9NUK7	Nonsense_Mutation	SNP	NULL	p.E1776*	ENST00000025301.2	37	c.5326	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	46	12.665273	0.99686	.	.	ENSG00000023516	ENST00000025301	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	19.9719	0.97287	0.0:0.0:1.0:0.0	.	.	.	.	X	1776	.	ENSP00000025301:E1776X	E	+	1	0	AKAP11	41785235	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.718000	0.92993	0.650000	0.86243	GAG	AKAP11	-	NULL	ENSG00000023516		0.393	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	-	0	77	0	G	NM_016248		42887235	1	tier1	-	no_errors	ENST00000025301	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	T	T	42887235	G	T	42887235	4	4	8	1	0	0	0	0	0	1	0	0	447	1291	45	3	5356	3	AKAP11	13	42887235	Nonsense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	623690	42887235	72282643	163	2335											
HTR2A	3356	genome.wustl.edu	37	chr13	47409764	47409764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaaagactggtattggCatggatatacctggagttga	12	10	12	7	0	0	2	0	1	0	1	0	4	0	4	2	4	2	3	2	4	4	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:47409764C>A	ENST00000378688.4	-	3	755	c.624G>T	c.(622-624)atG>atT	p.M208I	HTR2A_ENST00000542664.1_Missense_Mutation_p.M208I|HTR2A_ENST00000543956.1_Missense_Mutation_p.M124I			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	208					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGGTATTGGCATGGATATAC	0.398																																																	0													49	50	50					13																	47409764		2203	4300	6503	SO:0001583	missense	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.624G>T	13.37:g.47409764C>A	ENSP00000367959:p.Met208Ile		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.M208I	ENST00000378688.4	37	c.624	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121075	0.37436	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.70631	-0.5;-0.5;-0.5	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	N	0.01789	-0.72	0.80722	D	1	B;B	0.28470	0.113;0.213	B;B	0.28139	0.032;0.086	T	0.51212	-0.8734	10	0.10902	T	0.67	.	19.6603	0.95864	0.0:1.0:0.0:0.0	.	124;208	F5GWE8;P28223	.;5HT2A_HUMAN	I	208;124;208	ENSP00000367959:M208I;ENSP00000441861:M124I;ENSP00000437737:M208I	ENSP00000367959:M208I	M	-	3	0	HTR2A	46307765	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.041000	0.70988	2.894000	0.99253	0.591000	0.81541	ATG	HTR2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000102468		0.398	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	-	0	44	0	C	NM_000621		47409764	-1	tier1	-	no_errors	ENST00000378688	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	A	A	47409764	C	A	47409764	3	1	8	1	0	0	0	0	1	0	0	0	7468	710	25	3	795	3	HTR2A	13	47409764	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4522529	47409764	67760114	164	2336											
PCDH20	64881	genome.wustl.edu	37	chr13	61986458	61986458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagctgagtagaaactgTcagaattcctgtgacactgt	11	11	10	9	0	1	4	1	2	0	2	3	4	3	4	2	0	2	2	2	0	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:61986458T>C	ENST00000409186.1	-	5	3879	c.1774A>G	c.(1774-1776)Aca>Gca	p.T592A	PCDH20_ENST00000409204.4_Missense_Mutation_p.T592A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	592	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTAGAAACTGTCAGAATTCCT	0.468																																																	0													97	97	97					13																	61986458		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1774A>G	13.37:g.61986458T>C	ENSP00000386653:p.Thr592Ala		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T592A	ENST00000409186.1	37	c.1774	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	T	10.93	1.491024	0.26774	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01613	4.73;4.73	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000004	T	0.05227	0.0139	M	0.85777	2.775	0.51767	D	0.999934	P	0.34462	0.454	B	0.40602	0.334	T	0.38222	-0.9671	10	0.19590	T	0.45	.	11.6726	0.51411	0.1322:0.0:0.0:0.8678	.	592	A8K1K9	.	A	592;592;338	ENSP00000387250:T592A;ENSP00000386653:T592A	ENSP00000351500:T338A	T	-	1	0	PCDH20	60884459	1.000000	0.71417	0.894000	0.35097	0.380000	0.30137	3.869000	0.56062	2.323000	0.78572	0.528000	0.53228	ACA	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.468	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0	24	0	T	NM_022843		61986458	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	C	C	61986458	T	C	61986458	3	2	8	1	0	0	0	0	1	0	0	0	11554	1667	58	4	1085	4	PCDH20	13	61986458	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	14576694	61986458	53183420	165	2337											
FAM155A	728215	genome.wustl.edu	37	chr13	108518848	108518848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccatttctgagccctctCggaatcgatgaacggtttct	7	13	9	12	4	3	2	0	2	3	0	6	4	3	3	2	2	2	1	2	2	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr13:108518848C>T	ENST00000375915.2	-	1	235	c.97G>A	c.(97-99)Gag>Aag	p.E33K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	33						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGAGCCCTCTCGGAATCGATG	0.532																																																	0													163	172	169					13																	108518848		2203	4300	6503	SO:0001583	missense	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.97G>A	13.37:g.108518848C>T	ENSP00000365080:p.Glu33Lys		B2RUV1|B7Z334	Missense_Mutation	SNP	NULL	p.E33K	ENST00000375915.2	37	c.97	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761680	0.89932	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	L	0.50333	1.59	0.50813	D	0.999893	D	0.76494	0.999	D	0.76071	0.987	T	0.77874	-0.2425	9	0.87932	D	0	.	17.5823	0.87972	0.0:1.0:0.0:0.0	.	33	B1AL88	F155A_HUMAN	K	33	.	ENSP00000365080:E33K	E	-	1	0	FAM155A	107316849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.437000	0.66544	2.390000	0.81377	0.650000	0.86243	GAG	FAM155A	-	NULL	ENSG00000204442		0.532	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	-	0	78	0	C	NM_001080396		108518848	-1	tier1	-	no_errors	ENST00000375915	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	T	T	108518848	C	T	108518848	3	4	8	1	0	0	0	0	1	0	0	0	5484	893	31	1	1291	1	FAM155A	13	108518848	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	46532390	108518848	6651030	166	2338											
L2HGDH	79944	genome.wustl.edu	37	chr14	50745270	50745270	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tataacaattggatattgcaTtcctgaaaaaaaagaataag	20	11	6	4	0	0	2	0	1	0	1	1	3	1	3	1	1	2	1	1	1	10	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr14:50745270T>A	ENST00000267436.4	-	6	1103	c.706A>T	c.(706-708)Atg>Ttg	p.M236L	L2HGDH_ENST00000421284.3_Missense_Mutation_p.M236L|L2HGDH_ENST00000261699.4_Missense_Mutation_p.M236L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	236					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GGATATTGCATTCCTGAAAAA	0.269																																																	0													28	31	30					14																	50745270		2186	4268	6454	SO:0001583	missense	0				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.706A>T	14.37:g.50745270T>A	ENSP00000267436:p.Met236Leu		Q9BRR1	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.M236L	ENST00000267436.4	37	c.706	CCDS9698.1	14	.	.	.	.	.	.	.	.	.	.	T	4.901	0.167410	0.09339	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284	D;D;D	0.92149	-2.8;-2.98;-2.98	4.99	-0.332	0.12675	FAD dependent oxidoreductase (1);	0.412464	0.33438	N	0.004920	T	0.71298	0.3323	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.58696	-0.7591	10	0.06494	T	0.89	-17.0048	1.1874	0.01858	0.2343:0.1418:0.1251:0.4988	.	236;236	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	L	236	ENSP00000261699:M236L;ENSP00000267436:M236L;ENSP00000405559:M236L	ENSP00000261699:M236L	M	-	1	0	L2HGDH	49815020	0.877000	0.30153	0.643000	0.29450	0.744000	0.42396	1.156000	0.31712	-0.130000	0.11599	0.482000	0.46254	ATG	L2HGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000087299		0.269	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	-	0	93	0	T	NM_024884		50745270	-1	tier1	-	no_errors	ENST00000267436	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.934	A	A	50745270	T	A	50745270	3	1	8	1	0	0	0	0	1	0	0	0	8618	1493	52	5	705	5	L2HGDH	14	50745270	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09		50745270	56604270	167	2339											
BATF	10538	genome.wustl.edu	37	chr14	75989066	75989066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgactccagcttcagccGctctcctccccctggcaaac	7	8	7	19	1	2	1	1	1	1	0	5	1	4	1	5	1	3	3	5	1	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr14:75989066G>A	ENST00000286639.6	+	1	299	c.41G>A	c.(40-42)cGc>cAc	p.R14H	BATF_ENST00000555504.1_Missense_Mutation_p.R14H|BATF_ENST00000555795.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	14					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGCTTCAGCCGCTCTCCTCCC	0.582																																																	0													81	74	76					14																	75989066		2203	4300	6503	SO:0001583	missense	0			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.41G>A	14.37:g.75989066G>A	ENSP00000286639:p.Arg14His			Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.R14H	ENST00000286639.6	37	c.41	CCDS9843.1	14	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986688	0.53934	.	.	ENSG00000156127	ENST00000286639;ENST00000555504	T	0.77877	-1.13	4.92	4.92	0.64577	.	0.132608	0.50627	D	0.000116	T	0.51822	0.1697	N	0.08118	0	0.36008	D	0.837863	P	0.36789	0.57	B	0.17098	0.017	T	0.64786	-0.6325	10	0.51188	T	0.08	-16.2395	9.6678	0.39994	0.1251:0.0:0.8749:0.0	.	14	Q16520	BATF_HUMAN	H	14	ENSP00000286639:R14H	ENSP00000286639:R14H	R	+	2	0	BATF	75058819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.801000	0.62532	2.715000	0.92844	0.655000	0.94253	CGC	BATF	-	NULL	ENSG00000156127		0.582	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF	HGNC	protein_coding	OTTHUMT00000413669.1	-	0	52	0	G	NM_006399		75989066	1	tier1	-	no_errors	ENST00000286639	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	75989066	G	A	75989066	3	1	8	1	0	0	0	0	1	0	0	0	1326	1087	38	1	43	1	BATF	14	75989066	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	25243796	75989066	31360474	168	2340											
TDP1	55775	genome.wustl.edu	37	chr14	90429605	90429605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaggtacacctgttcCgaggcccagaaagctgcaca	11	5	11	14	1	0	1	0	0	0	1	1	3	1	1	4	2	4	4	4	2	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr14:90429605C>T	ENST00000335725.4	+	3	397	c.147C>T	c.(145-147)tcC>tcT	p.S49S	TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393452.3_Silent_p.S49S|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393454.2_Silent_p.S49S|TDP1_ENST00000555880.1_Silent_p.S49S	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	49					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.S49S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		ACACCTGTTCCGAGGCCCAGA	0.478								Repair of DNA-protein crosslinks																																									1	Substitution - coding silent(1)	large_intestine(1)											114	107	109					14																	90429605		2203	4300	6503	SO:0001819	synonymous_variant	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.147C>T	14.37:g.90429605C>T			Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	pfam_Tyr-DNA_phospho	p.S49	ENST00000335725.4	37	c.147	CCDS9888.1	14																																																																																			TDP1	-	NULL	ENSG00000042088		0.478	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	-	0	41	0	C	NM_018319		90429605	1	tier1	-	no_errors	ENST00000335725	ensembl	human	known	74_37	silent	65.91	15	29	SNP	0.166	T	T	90429605	C	T	90429605	2	4	8	1	0	0	0	0	0	0	0	1	15775	639	23	1		1	TDP1	14	90429605	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	14440539	90429605	16919935	169	2341											
GABRB3	2562	genome.wustl.edu	37	chr15	26793097	26793097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgggtcttcttgtgcGggaggcttctgtcccccagg	4	12	15	10	1	3	1	0	0	3	1	4	2	4	2	2	4	1	2	2	4	1	4	rs369631109		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr15:26793097G>T	ENST00000311550.5	-	9	1376	c.1265C>A	c.(1264-1266)cCg>cAg	p.P422Q	GABRB3_ENST00000400188.3_Missense_Mutation_p.P351Q|GABRB3_ENST00000541819.2_Missense_Mutation_p.P478Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.P422Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.P337Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	422					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTCTTGTGCGGGAGGCTTCT	0.493																																																	0													85	75	78					15																	26793097		2203	4300	6503	SO:0001583	missense	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1265C>A	15.37:g.26793097G>T	ENSP00000308725:p.Pro422Gln		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.P422Q	ENST00000311550.5	37	c.1265	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609648	0.28623	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.82	4.85	0.62838	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.456271	0.27147	N	0.020720	T	0.75939	0.3918	L	0.31420	0.93	0.44447	D	0.997373	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.72043	-0.4409	10	0.59425	D	0.04	.	9.0456	0.36345	0.0765:0.1492:0.7743:0.0	.	478;422;422	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	422;478;422;351;337	ENSP00000308725:P422Q;ENSP00000442408:P478Q;ENSP00000299267:P422Q;ENSP00000383049:P351Q;ENSP00000439169:P337Q	ENSP00000299267:P422Q	P	-	2	0	GABRB3	24344190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.847000	0.55895	2.752000	0.94435	0.655000	0.94253	CCG	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000166206		0.493	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0	33	0	G			26793097	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	missense	60.00	14	21	SNP	0.999	T	T	26793097	G	T	26793097	3	4	8	1	0	0	0	0	1	0	0	0	6192	1116	39	2	160	2	GABRB3	15	26793097	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		26793097	75738295	170	2342											
TLN2	83660	genome.wustl.edu	37	chr15	63000913	63000913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtttgccagccgaggCgagcccatcggccgctacga	7	5	14	15	6	0	0	0	0	0	0	1	3	0	0	4	3	4	3	4	3	1	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr15:63000913C>T	ENST00000561311.1	+	20	2615	c.2385C>T	c.(2383-2385)ggC>ggT	p.G795G	TLN2_ENST00000306829.6_Silent_p.G795G			Q9Y4G6	TLN2_HUMAN	talin 2	795					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCAGCCGAGGCGAGCCCATCG	0.622																																																	0													57	53	54					15																	63000913		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2385C>T	15.37:g.63000913C>T			A6NLB8	Silent	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G795	ENST00000561311.1	37	c.2385	CCDS32261.1	15																																																																																			TLN2	-	NULL	ENSG00000171914		0.622	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2		0	22	0	C			63000913	1			no_errors	ENST00000306829	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.268	T	T	63000913	C	T	63000913	2	4	8	1	0	0	0	0	0	0	0	1	15995	755	27	1		1	TLN2	15	63000913	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	36207816	63000913	39530479	171	2343											
TLN2	83660	genome.wustl.edu	37	chr15	63088482	63088482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagaacagtgagaccttcGcagaccacaggtacgtgggg	12	5	14	10	2	0	3	0	1	0	3	1	5	0	3	2	3	2	2	2	3	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr15:63088482G>A	ENST00000561311.1	+	46	6270	c.6040G>A	c.(6040-6042)Gca>Aca	p.A2014T	TLN2_ENST00000306829.6_Missense_Mutation_p.A2014T			Q9Y4G6	TLN2_HUMAN	talin 2	2014					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAGACCTTCGCAGACCACAG	0.592																																																	0													59	56	57					15																	63088482		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6040G>A	15.37:g.63088482G>A	ENSP00000453508:p.Ala2014Thr		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.A2014T	ENST00000561311.1	37	c.6040	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453484	0.84209	.	.	ENSG00000171914	ENST00000306829	T	0.14144	2.53	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01323	-1.1385	10	0.40728	T	0.16	-14.0845	18.8729	0.92324	0.0:0.0:1.0:0.0	.	2014	Q9Y4G6	TLN2_HUMAN	T	2014	ENSP00000303476:A2014T	ENSP00000303476:A2014T	A	+	1	0	TLN2	60875535	1.000000	0.71417	0.959000	0.39883	0.428000	0.31595	9.813000	0.99286	2.522000	0.85027	0.655000	0.94253	GCA	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.592	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	58	0	G			63088482	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	A	A	63088482	G	A	63088482	3	1	8	1	0	0	0	0	1	0	0	0	15995	1087	38	1	6214	1	TLN2	15	63088482	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	87569	63088482	39442910	172	2344											
SIN3A	25942	genome.wustl.edu	37	chr15	75676691	75676691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgagttctgtgtgttcaGctggcctccggtggccccat	3	13	12	13	1	2	1	1	1	1	0	3	1	3	1	5	3	1	3	5	3	0	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr15:75676691G>T	ENST00000394947.3	-	17	3423	c.3109C>A	c.(3109-3111)Ctg>Atg	p.L1037M	SIN3A_ENST00000360439.4_Missense_Mutation_p.L1037M|SIN3A_ENST00000394949.4_Missense_Mutation_p.L1037M	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGTGTGTTCAGCTGGCCTCCG	0.493																																																	0													96	99	98					15																	75676691		2197	4294	6491	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3109C>A	15.37:g.75676691G>T	ENSP00000378402:p.Leu1037Met			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.L1037M	ENST00000394947.3	37	c.3109	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664181	0.47572	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.50548	0.74;0.74;0.74	6.0	6.0	0.97389	.	0.240987	0.36482	N	0.002578	T	0.63792	0.2541	M	0.73598	2.24	0.80722	D	1	D	0.56287	0.975	P	0.59761	0.863	T	0.63166	-0.6698	10	0.45353	T	0.12	-16.1406	12.8026	0.57594	0.0738:0.0:0.9262:0.0	.	1037	Q96ST3	SIN3A_HUMAN	M	1037	ENSP00000378402:L1037M;ENSP00000378403:L1037M;ENSP00000353622:L1037M	ENSP00000353622:L1037M	L	-	1	2	SIN3A	73463744	0.990000	0.36364	1.000000	0.80357	0.989000	0.77384	1.137000	0.31479	2.868000	0.98415	0.556000	0.70494	CTG	SIN3A	-	NULL	ENSG00000169375		0.493	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	-	0	78	0	G	NM_015477		75676691	-1	tier1	-	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	75676691	G	T	75676691	3	4	8	1	0	0	0	0	1	0	0	0	14370	962	34	3	732	3	SIN3A	15	75676691	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	12588209	75676691	26854701	173	2345											
AKAP13	11214	genome.wustl.edu	37	chr15	86122396	86122396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgaggaggagaatacagAccgttcctgtaggaagaaaa	16	7	13	5	1	0	4	0	1	0	3	1	7	1	6	2	3	1	3	2	3	6	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr15:86122396A>G	ENST00000394518.2	+	7	1192	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.D366G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	366					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGAATACAGACCGTTCCTGT	0.493																																					Melanoma(94;603 1453 3280 32295 32951)												0													72	74	73					15																	86122396		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1097A>G	15.37:g.86122396A>G	ENSP00000378026:p.Asp366Gly		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D366G	ENST00000394518.2	37	c.1097	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	A	9.662	1.144523	0.21288	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.09538	2.97;2.98	5.52	1.86	0.25419	.	.	.	.	.	T	0.07279	0.0184	L	0.27053	0.805	0.09310	N	0.999995	B;B	0.13594	0.005;0.008	B;B	0.13407	0.004;0.009	T	0.36187	-0.9758	9	0.66056	D	0.02	.	3.6898	0.08341	0.657:0.0:0.177:0.166	.	366;366	Q12802;Q12802-2	AKP13_HUMAN;.	G	366;366;365;365	ENSP00000354718:D366G;ENSP00000378026:D366G	ENSP00000354718:D366G	D	+	2	0	AKAP13	83923400	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.124000	0.10595	0.116000	0.18110	-0.256000	0.11100	GAC	AKAP13	-	NULL	ENSG00000170776		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	40	0	A	NM_007200		86122396	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	35.00	25	14	SNP	0.002	G	G	86122396	A	G	86122396	3	3	8	1	0	0	0	0	1	0	0	0	449	275	10	4	1119	4	AKAP13	15	86122396	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	10445705	86122396	16408996	174	2346											
SSTR5	6755	genome.wustl.edu	37	chr16	1129612	1129612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagcggaaggtgacgcgCatggtgttggtggtggtgct	5	10	20	6	4	0	1	0	1	0	0	1	3	0	3	0	7	2	3	0	7	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr16:1129612C>T	ENST00000293897.4	+	1	832	c.744C>T	c.(742-744)cgC>cgT	p.R248R	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.R248R|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	248					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	AGGTGACGCGCATGGTGTTGG	0.672																																																	0													199	174	182					16																	1129612		2192	4298	6490	SO:0001819	synonymous_variant	0			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.744C>T	16.37:g.1129612C>T			P34988|Q541E0|Q9UJI5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.R248	ENST00000293897.4	37	c.744	CCDS10429.1	16																																																																																			SSTR5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt	ENSG00000162009		0.672	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR5	HGNC	protein_coding	OTTHUMT00000420836.1	-	0	136	0	C			1129612	1	tier1	-	no_errors	ENST00000293897	ensembl	human	known	74_37	silent	64.29	30	54	SNP	0.985	T	T	1129612	C	T	1129612	2	4	8	1	0	0	0	0	0	0	0	1	15248	697	25	3		3	SSTR5	16	1129612	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09		1129612	89225141	175	2347											
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25258515	25258515	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacctgctatcttttcatcTtctaaaccccactgctgctg	8	14	4	15	0	4	0	1	0	3	0	4	0	4	0	3	0	4	3	3	0	3	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr16:25258515T>C	ENST00000328086.7	-	5	1805	c.1002A>G	c.(1000-1002)gaA>gaG	p.E334E		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	334					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTTTCATCTTCTAAACCCC	0.453																																																	0													111	104	106					16																	25258515		2197	4300	6497	SO:0001819	synonymous_variant	0			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1002A>G	16.37:g.25258515T>C			A1L3B4|Q6ZN77	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E334	ENST00000328086.7	37	c.1002	CCDS32410.1	16																																																																																			ZKSCAN2	-	NULL	ENSG00000155592		0.453	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	-	0	50	0	T	NM_001012981		25258515	-1	tier1	-	no_errors	ENST00000328086	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	C	C	25258515	T	C	25258515	2	2	8	1	0	0	0	0	0	0	0	1	17735	1606	56	4		4	ZKSCAN2	16	25258515	Silent	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	24128903	25258515	65096238	176	2348											
DYNC1LI2	1783	genome.wustl.edu	37	chr16	66776515	66776515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagaaactgcaaatttcaGcaggcctttgtggtacaagt	13	10	10	8	0	1	1	1	0	0	1	1	1	1	1	1	2	5	4	1	2	4	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr16:66776515G>T	ENST00000258198.2	-	4	561	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	DYNC1LI2_ENST00000440564.2_Missense_Mutation_p.L80M|DYNC1LI2_ENST00000443351.2_Intron|DYNC1LI2_ENST00000379482.2_Missense_Mutation_p.L119M	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	119					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GCAAATTTCAGCAGGCCTTTG	0.468																																																	0													85	78	80					16																	66776515		2200	4300	6500	SO:0001583	missense	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"Cytoplasmic dyneins"	2966	protein-coding gene	gene with protein product		611406	"dynein, cytoplasmic, light intermediate polypeptide 2"	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.355C>A	16.37:g.66776515G>T	ENSP00000258198:p.Leu119Met		A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.L119M	ENST00000258198.2	37	c.355	CCDS10818.1	16	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684532	0.68157	.	.	ENSG00000135720	ENST00000258198;ENST00000379482;ENST00000440564	T;T;T	0.24538	1.85;1.85;1.85	5.07	3.06	0.35304	.	0.000000	0.64402	D	0.000001	T	0.52092	0.1713	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.973;0.99	T	0.58719	-0.7587	10	0.87932	D	0	-19.4179	9.7737	0.40605	0.2628:0.0:0.7372:0.0	.	80;119;119	B4E2E0;B4DHD8;O43237	.;.;DC1L2_HUMAN	M	119;119;80	ENSP00000258198:L119M;ENSP00000368795:L119M;ENSP00000408566:L80M	ENSP00000258198:L119M	L	-	1	2	DYNC1LI2	65334016	0.702000	0.27816	1.000000	0.80357	0.993000	0.82548	1.089000	0.30890	1.434000	0.47414	0.563000	0.77884	CTG	DYNC1LI2	-	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	ENSG00000135720		0.468	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI2	HGNC	protein_coding	OTTHUMT00000268846.1	-	0	47	0	G	NM_006141		66776515	-1	tier1	-	no_errors	ENST00000258198	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	66776515	G	T	66776515	3	4	8	1	0	0	0	0	1	0	0	0	4859	962	34	3	1163	3	DYNC1LI2	16	66776515	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	41518000	66776515	23578238	177	2349											
DVL2	1856	genome.wustl.edu	37	chr17	7130508	7130508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggcctgctttgagcaGcccgctggcatacttgcggg	6	9	14	12	2	1	1	1	1	0	0	1	2	1	1	2	3	5	4	2	3	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:7130508G>A	ENST00000005340.5	-	13	1726	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L	DVL2_ENST00000575458.1_Silent_p.L476L|DVL2_ENST00000574642.1_5'Flank	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	482	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCTTTGAGCAGCCCGCTGGCA	0.597																																																	0													135	125	128					17																	7130508		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.1444C>T	17.37:g.7130508G>A			D3DTN3|Q53XM0	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.L482	ENST00000005340.5	37	c.1444	CCDS11091.1	17																																																																																			DVL2	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000004975		0.597	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2		0	44	0	G	NM_004422		7130508	-1			no_errors	ENST00000005340	ensembl	human	known	74_37	silent	8.00	23	2	SNP	1.000	A	A	7130508	G	A	7130508	2	1	8	1	0	0	0	0	0	0	0	1	4850	962	34	3		3	DVL2	17	7130508	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		7130508	74064702	178	2350											
TP53	7157	genome.wustl.edu	37	chr17	7577102	7577102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgtgcgccggtctctcCcaggacaggcacaaacacgc	8	6	10	17	3	2	0	0	0	2	0	4	1	3	1	3	3	2	1	3	3	1	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:7577102C>A	ENST00000269305.4	-	8	1025	c.836G>T	c.(835-837)gGg>gTg	p.G279V	TP53_ENST00000445888.2_Missense_Mutation_p.G279V|TP53_ENST00000359597.4_Missense_Mutation_p.G279V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.G279V|TP53_ENST00000420246.2_Missense_Mutation_p.G279V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTCTCTCCCAGGACAGGC	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	60	Substitution - Missense(36)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	upper_aerodigestive_tract(16)|urinary_tract(8)|oesophagus(7)|breast(5)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|skin(4)|large_intestine(3)|central_nervous_system(3)|ovary(2)|stomach(1)|lung(1)|liver(1)											75	65	68					17																	7577102		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.836G>T	17.37:g.7577102C>A	ENSP00000269305:p.Gly279Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G279V	ENST00000269305.4	37	c.836	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526020	0.85600	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.85710	2.77	0.80722	D	1	D;P;D;D	0.89917	1.0;0.892;1.0;1.0	D;P;D;D	0.97110	0.999;0.831;0.999;1.0	D	0.96506	0.9375	10	0.87932	D	0	-22.6503	11.5187	0.50539	0.0:0.9131:0.0:0.0869	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	279;279;279;279;279;268;147	ENSP00000352610:G279V;ENSP00000269305:G279V;ENSP00000398846:G279V;ENSP00000391127:G279V;ENSP00000391478:G279V;ENSP00000425104:G147V	ENSP00000269305:G279V	G	-	2	0	TP53	7517827	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.862000	0.69560	1.390000	0.46547	0.462000	0.41574	GGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	40	0	C	NM_000546		7577102	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A	A	7577102	C	A	7577102	3	1	8	1	0	0	0	0	1	0	0	0	16429	623	22	3	450	3	TP53	17	7577102	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	446594	7577102	73618108	179	2351											
TP53	7157	genome.wustl.edu	37	chr17	7578401	7578402	+	In_Frame_Ins	INS	-	-	GCA																															gagcagcgctcatggtggggINSgcagcgcctcacaacctccg																								rs147002414		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:7578401_7578402insGCA	ENST00000269305.4	-	5	717_718	c.528_529insTGC	c.(526-531)tgcccc>tgcTGCccc	p.176_177insC	TP53_ENST00000445888.2_In_Frame_Ins_p.176_177insC|TP53_ENST00000359597.4_In_Frame_Ins_p.176_177insC|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Ins_p.176_177insC|TP53_ENST00000455263.2_In_Frame_Ins_p.176_177insC|TP53_ENST00000420246.2_In_Frame_Ins_p.176_177insC	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176*(12)|p.C176W(11)|p.P177_C182delPHHERC(8)|p.0?(8)|p.P177S(8)|p.H178fs*69(5)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176F(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H178fs*3(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCATGGTGGGGGCAGCGCCTCA	0.649		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	100	Deletion - Frameshift(26)|Deletion - In frame(23)|Substitution - Missense(22)|Substitution - Nonsense(16)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(2)	large_intestine(19)|breast(18)|upper_aerodigestive_tract(11)|oesophagus(9)|lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(5)|central_nervous_system(4)|bone(4)|stomach(2)|urinary_tract(2)|liver(2)|pancreas(2)|prostate(2)|thyroid(1)|soft_tissue(1)|biliary_tract(1)|endometrium(1)|skin(1)																																								SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.526_528dupTGC	17.37:g.7578402_7578404dupGCA	ENSP00000269305:p.Cys176_Cys176dup		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.176in_frame_insC	ENST00000269305.4	37	c.529_528	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.649	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	33	0	-	NM_000546		7578402	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_ins	53.66	19	22	INS	1.000:0.998	GCA	GCA	7578402	-	GCA	7578401	7	5	8	1	0	1	1	0	0	0	0	0	16429	1232	43	0	769	0	TP53	17	7578401	In_Frame_Ins	INS	-	TCGA-2H-A9GM-01A-11D-A37C-09	1299	7578401	73616809	180	2352											
SUPT6H	6830	genome.wustl.edu	37	chr17	27009801	27009801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttggggagaacctgcggGatagctaccagcggcacgag	10	6	16	9	3	0	1	0	0	0	1	0	4	0	2	2	4	5	3	2	4	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:27009801G>T	ENST00000314616.6	+	14	1937	c.1654G>T	c.(1654-1656)Gat>Tat	p.D552Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D552Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	552	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAACCTGCGGGATAGCTACCA	0.567																																																	0													75	72	73					17																	27009801		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.1654G>T	17.37:g.27009801G>T	ENSP00000319104:p.Asp552Tyr		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D552Y	ENST00000314616.6	37	c.1654	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753666	0.89753	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	T;T	0.46819	0.86;0.86	5.95	5.95	0.96441	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.73125	0.3547	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	T	0.75119	-0.3430	10	0.72032	D	0.01	-29.5644	20.3854	0.98941	0.0:0.0:1.0:0.0	.	552	Q7KZ85	SPT6H_HUMAN	Y	552	ENSP00000319104:D552Y;ENSP00000338143:D552Y	ENSP00000319104:D552Y	D	+	1	0	SUPT6H	24033928	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.359000	0.97115	2.825000	0.97269	0.655000	0.94253	GAT	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.567	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2		0	65	0	G	NM_003170		27009801	1			no_errors	ENST00000314616	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	27009801	G	T	27009801	3	4	8	1	0	0	0	0	1	0	0	0	15447	1174	41	3	1704	3	SUPT6H	17	27009801	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	19431400	27009801	54185409	181	2353											
KRT27	342574	genome.wustl.edu	37	chr17	38937510	38937510	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatgggcattactggtagTtgcagaaattatctgacaaa	15	11	9	6	0	1	2	0	1	1	1	1	2	1	2	0	2	3	4	0	2	6	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:38937510T>A	ENST00000301656.3	-	2	497	c.457A>T	c.(457-459)Act>Tct	p.T153S		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TTACTGGTAGTTGCAGAAATT	0.318																																																	0													83	74	77					17																	38937510		2203	4300	6503	SO:0001583	missense	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.457A>T	17.37:g.38937510T>A	ENSP00000301656:p.Thr153Ser			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.T153S	ENST00000301656.3	37	c.457	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946139	0.53079	.	.	ENSG00000171446	ENST00000301656	D	0.88664	-2.41	5.58	3.32	0.38043	Filament (1);	0.086419	0.50627	N	0.000106	D	0.85526	0.5717	L	0.49571	1.57	0.26284	N	0.978225	P	0.44816	0.844	P	0.47786	0.557	T	0.76958	-0.2766	10	0.44086	T	0.13	.	2.701	0.05149	0.1398:0.0812:0.1649:0.6141	.	153	Q7Z3Y8	K1C27_HUMAN	S	153	ENSP00000301656:T153S	ENSP00000301656:T153S	T	-	1	0	KRT27	36191036	0.368000	0.25031	0.857000	0.33713	0.869000	0.49853	1.285000	0.33261	0.461000	0.27071	-0.256000	0.11100	ACT	KRT27	-	pfam_IF	ENSG00000171446		0.318	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1		0	44	0	T	NM_181537		38937510	-1			no_errors	ENST00000301656	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.762	A	A	38937510	T	A	38937510	3	1	8	1	0	0	0	0	1	0	0	0	8491	1725	60	5	950	5	KRT27	17	38937510	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	11927709	38937510	42257700	182	2354											
SP6	80320	genome.wustl.edu	37	chr17	45925335	45925335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggtggtctccgacgtagCcccccaagcccgcctgaagc	6	6	12	17	3	1	1	0	1	1	0	2	2	1	1	6	2	3	2	6	2	3	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:45925335C>T	ENST00000536300.1	-	2	792	c.461G>A	c.(460-462)gGc>gAc	p.G154D	SP6_ENST00000342234.2_Missense_Mutation_p.G154D	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	154					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						TCCGACGTAGCCCCCCAAGCC	0.711																																																	0													9	11	11					17																	45925335		2165	4241	6406	SO:0001583	missense	0				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.461G>A	17.37:g.45925335C>T	ENSP00000438209:p.Gly154Asp		B3KXS4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G154D	ENST00000536300.1	37	c.461	CCDS11520.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643667	0.87859	.	.	ENSG00000189120	ENST00000342234;ENST00000536300	T;T	0.08634	3.07;3.07	4.35	4.35	0.52113	.	0.000000	0.44285	D	0.000463	T	0.10035	0.0246	L	0.36672	1.1	0.52099	D	0.999945	P	0.47409	0.895	B	0.43838	0.433	T	0.12915	-1.0529	10	0.42905	T	0.14	.	15.8112	0.78565	0.0:1.0:0.0:0.0	.	154	Q3SY56	SP6_HUMAN	D	154	ENSP00000340799:G154D;ENSP00000438209:G154D	ENSP00000340799:G154D	G	-	2	0	SP6	43280334	0.958000	0.32768	1.000000	0.80357	0.966000	0.64601	1.238000	0.32707	2.253000	0.74438	0.462000	0.41574	GGC	SP6	-	NULL	ENSG00000189120		0.711	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1		0	30	0	C	NM_199262		45925335	-1			no_errors	ENST00000342234	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	45925335	C	T	45925335	3	4	8	1	0	0	0	0	1	0	0	0	15013	739	26	3	673	3	SP6	17	45925335	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	6987825	45925335	35269875	183	2355											
ACSF2	80221	genome.wustl.edu	37	chr17	48540593	48540593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacattttaggagagcGcctgaaactgcatgagaagg	13	8	11	9	1	0	3	0	2	0	2	1	5	1	3	2	2	4	1	2	2	4	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:48540593G>A	ENST00000300441.4	+	7	973	c.869G>A	c.(868-870)cGc>cAc	p.R290H	ACSF2_ENST00000541920.1_Missense_Mutation_p.R130H|ACSF2_ENST00000427954.2_Missense_Mutation_p.R315H|ACSF2_ENST00000502667.1_Missense_Mutation_p.R277H|ACSF2_ENST00000504392.1_Missense_Mutation_p.R247H	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	290					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TTAGGAGAGCGCCTGAAACTG	0.627																																																	0													80	86	84					17																	48540593		2203	4300	6503	SO:0001583	missense	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.869G>A	17.37:g.48540593G>A	ENSP00000300441:p.Arg290His		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R290H	ENST00000300441.4	37	c.869	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882285	0.33255	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.67	4.67	0.58626	AMP-dependent synthetase/ligase (1);	0.136685	0.52532	D	0.000073	T	0.66944	0.2841	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.63148	-0.6702	10	0.15499	T	0.54	-20.1513	17.7883	0.88545	0.0:0.0:1.0:0.0	.	277;315;247;290	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	H	290;130;247;315;277	ENSP00000300441:R290H;ENSP00000437987:R130H;ENSP00000425964:R247H;ENSP00000401831:R315H;ENSP00000421884:R277H	ENSP00000300441:R290H	R	+	2	0	ACSF2	45895592	1.000000	0.71417	0.942000	0.38095	0.191000	0.23601	8.811000	0.91954	2.421000	0.82119	0.563000	0.77884	CGC	ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.627	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	-	0	28	0	G	NM_025149		48540593	1	tier1	-	no_errors	ENST00000300441	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.875	A	A	48540593	G	A	48540593	3	1	8	1	0	0	0	0	1	0	0	0	175	1087	38	1	895	1	ACSF2	17	48540593	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	2615258	48540593	32654617	184	2356											
TACO1	51204	genome.wustl.edu	37	chr17	61683719	61683719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagggtcgaggccctggtgGctcttctctgctcatcgagg	4	11	15	11	2	3	1	1	1	2	0	6	3	3	1	1	5	1	2	1	5	0	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:61683719G>A	ENST00000258975.6	+	3	646	c.434G>A	c.(433-435)gGc>gAc	p.G145D		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	145			G -> S (in dbSNP:rs35252424).		regulation of translation (GO:0006417)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)	4						GGCCCTGGTGGCTCTTCTCTG	0.458																																																	0													168	151	157					17																	61683719		2203	4300	6503	SO:0001583	missense	0			BC005049	CCDS11640.1	17q23.3	2009-06-26	2009-06-26	2009-06-26		ENSG00000136463			24316	protein-coding gene	gene with protein product		612958	"coiled-coil domain containing 44"	CCDC44		19503089	Standard	NM_016360		Approved		uc002jbd.3	Q9BSH4		ENST00000258975.6:c.434G>A	17.37:g.61683719G>A	ENSP00000258975:p.Gly145Asp		B2RD21|Q8N3N6|Q9UI60	Missense_Mutation	SNP	pfam_Transcrip_reg_TACO1-like	p.G145D	ENST00000258975.6	37	c.434	CCDS11640.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955192	0.92726	.	.	ENSG00000136463	ENST00000258975	T	0.60920	0.15	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88651	0.3182	10	0.87932	D	0	-22.7866	17.5894	0.87991	0.0:0.0:1.0:0.0	.	145	Q9BSH4	TACO1_HUMAN	D	145	ENSP00000258975:G145D	ENSP00000258975:G145D	G	+	2	0	TACO1	59037451	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.267000	0.89874	2.746000	0.94184	0.650000	0.86243	GGC	TACO1	-	pfam_Transcrip_reg_TACO1-like	ENSG00000136463		0.458	TACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACO1	HGNC	protein_coding	OTTHUMT00000443862.1	-	0	81	0	G	NM_016360		61683719	1	tier1	-	no_errors	ENST00000258975	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	61683719	G	A	61683719	3	1	8	1	0	0	0	0	1	0	0	0	15551	1203	42	3	444	3	TACO1	17	61683719	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	13143126	61683719	19511491	185	2357											
PSMC5	5705	genome.wustl.edu	37	chr17	61905527	61905527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggggaaggcaggcagCggactccgccaatattatct	11	6	15	9	2	1	0	0	0	1	0	2	4	2	3	2	6	1	2	2	6	4	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr17:61905527C>T	ENST00000310144.6	+	2	362	c.54C>T	c.(52-54)agC>agT	p.S18S	PSMC5_ENST00000580864.1_Silent_p.S10S|PSMC5_ENST00000581882.1_Silent_p.S10S|PSMC5_ENST00000375812.4_Silent_p.S10S|FTSJ3_ENST00000580295.1_Intron|FTSJ3_ENST00000427159.2_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AGGCAGGCAGCGGACTCCGCC	0.537																																																	0													65	65	65					17																	61905527		2203	4300	6503	SO:0001819	synonymous_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.54C>T	17.37:g.61905527C>T			A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.S18	ENST00000310144.6	37	c.54	CCDS11645.1	17																																																																																			PSMC5	-	NULL	ENSG00000087191		0.537	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC5	HGNC	protein_coding	OTTHUMT00000444404.1	-	0	51	0	C	NM_002805		61905527	1	tier1	-	no_errors	ENST00000310144	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.998	T	T	61905527	C	T	61905527	2	4	8	1	0	0	0	0	0	0	0	1	12732	767	27	1		1	PSMC5	17	61905527	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	221808	61905527	19289683	186	2358											
TYMS	7298	genome.wustl.edu	37	chr18	670755	670755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctatgtggtgaacagtgAgctgtcctgccagctgtacc	7	12	12	10	0	1	2	0	2	1	0	2	2	2	2	3	1	5	4	3	1	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:670755A>G	ENST00000323274.10	+	5	759	c.620A>G	c.(619-621)gAg>gGg	p.E207G	TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323250.5_Missense_Mutation_p.E124G|TYMS_ENST00000323224.7_Missense_Mutation_p.E173G	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	207					aging (GO:0007568)|cartilage development (GO:0051216)|circadian rhythm (GO:0007623)|deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|developmental growth (GO:0048589)|dTMP biosynthetic process (GO:0006231)|dTTP biosynthetic process (GO:0006235)|dUMP metabolic process (GO:0046078)|G1/S transition of mitotic cell cycle (GO:0000082)|immortalization of host cell by virus (GO:0019088)|intestinal epithelial cell maturation (GO:0060574)|mitotic cell cycle (GO:0000278)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|organ regeneration (GO:0031100)|polysaccharide metabolic process (GO:0005976)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to organophosphorus (GO:0046683)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|response to vitamin A (GO:0033189)|small molecule metabolic process (GO:0044281)|tetrahydrofolate metabolic process (GO:0046653)|uracil metabolic process (GO:0019860)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cofactor binding (GO:0048037)|drug binding (GO:0008144)|folic acid binding (GO:0005542)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|thymidylate synthase activity (GO:0004799)			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Raltitrexed(DB00293)|Trifluridine(DB00432)|Trimethoprim(DB00440)	GTGAACAGTGAGCTGTCCTGC	0.567																																																	0													174	142	153					18																	670755		2203	4300	6503	SO:0001583	missense	0			X02308	CCDS11821.1	18p11.31-p11.21	2014-09-17			ENSG00000176890	ENSG00000176890	2.1.1.45		12441	protein-coding gene	gene with protein product		188350		TS			Standard	NM_001071		Approved	Tsase, TMS, HsT422	uc010dka.1	P04818	OTTHUMG00000131473	ENST00000323274.10:c.620A>G	18.37:g.670755A>G	ENSP00000315644:p.Glu207Gly		Q8WYK3|Q8WYK4	Missense_Mutation	SNP	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase	p.E207G	ENST00000323274.10	37	c.620	CCDS11821.1	18	.	.	.	.	.	.	.	.	.	.	A	32	5.141427	0.94560	.	.	ENSG00000176890	ENST00000323274;ENST00000323224;ENST00000323250	.	.	.	6.09	6.09	0.99107	Thymidylate synthase/dCMP hydroxymethylase domain (2);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.81914	0.995;0.981;0.966	D	0.88765	0.3260	9	0.87932	D	0	-7.2152	16.6542	0.85224	1.0:0.0:0.0:0.0	.	124;173;207	Q8WYK4;Q8WYK3;P04818	.;.;TYSY_HUMAN	G	207;173;124	.	ENSP00000314727:E173G	E	+	2	0	TYMS	660755	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.135000	0.94478	2.331000	0.79229	0.533000	0.62120	GAG	TYMS	-	pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,tigrfam_Thymidylate_synthase	ENSG00000176890		0.567	TYMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYMS	HGNC	protein_coding	OTTHUMT00000254316.1		0	48	0	A	NM_001071		670755	1			no_errors	ENST00000323274	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G	G	670755	A	G	670755	3	3	8	1	0	0	0	0	1	0	0	0	16861	304	11	4	638	4	TYMS	18	670755	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09		670755	77406493	187	2359											
EPB41L3	23136	genome.wustl.edu	37	chr18	5433926	5433926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgtgcagctcgatcActttgtcttccagttcttta	5	17	8	11	1	4	0	1	0	3	0	6	1	5	0	1	1	2	4	1	1	1	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:5433926A>G	ENST00000341928.2	-	7	1140	c.800T>C	c.(799-801)gTg>gCg	p.V267A	EPB41L3_ENST00000400111.3_Missense_Mutation_p.V267A|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V267A|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V267A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.V267A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	267	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAGCTCGATCACTTTGTCTTC	0.498																																																	0													290	255	267					18																	5433926		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.800T>C	18.37:g.5433926A>G	ENSP00000343158:p.Val267Ala		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V267A	ENST00000341928.2	37	c.800	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	A	31	5.103370	0.94245	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	6.16	6.16	0.99307	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.165284	0.52532	D	0.000063	D	0.90480	0.7018	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D	0.71674	0.992;0.998;0.998;0.998;0.997	D;D;D;D;D	0.81914	0.987;0.965;0.995;0.991;0.989	D	0.91580	0.5278	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	267;267;158;267;267	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	A	267;158;267;158;267;267	ENSP00000343158:V267A;ENSP00000441174:V267A;ENSP00000341138:V267A;ENSP00000382981:V267A	ENSP00000343158:V267A	V	-	2	0	EPB41L3	5423926	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	GTG	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000082397		0.498	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	62	0	A	NM_012307		5433926	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	26.04	70	25	SNP	1.000	G	G	5433926	A	G	5433926	3	3	8	1	0	0	0	0	1	0	0	0	5170	159	6	4	2527	4	EPB41L3	18	5433926	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	4763171	5433926	72643322	188	2360											
CDH2	1000	genome.wustl.edu	37	chr18	25568592	25568592	+	Frame_Shift_Del	DEL	A	A	-																															tttgtccattcacaggatctAtttttagccaattggcagga																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:25568592delA	ENST00000269141.3	-	11	2060	c.1637delT	c.(1636-1638)atafs	p.I546fs	CDH2_ENST00000399380.3_Frame_Shift_Del_p.I515fs	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	546	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACAGGATCTATTTTTAGCCA	0.294																																																	0													103	107	105					18																	25568592		2203	4300	6503	SO:0001589	frameshift_variant	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1637delT	18.37:g.25568592delA	ENSP00000269141:p.Ile546fs		A8MWK3|B0YIY6|Q14923|Q8N173	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.I546fs	ENST00000269141.3	37	c.1637	CCDS11891.1	18																																																																																			CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin	ENSG00000170558		0.294	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3		0	49	0	A	NM_001792		25568592	-1	tier1		no_errors	ENST00000269141	ensembl	human	known	74_37	frame_shift_del	63.16	14	24	DEL	1.000	-	-	25568592	A	-	25568592	7	5	8	1	0	1	0	1	0	0	0	0	3112	449	16	0	1107	0	CDH2	18	25568592	Frame_Shift_Del	DEL	A	TCGA-2H-A9GM-01A-11D-A37C-09	20134666	25568592	52508656	189	2361	7	2									
CDH2	1000	genome.wustl.edu	37	chr18	25568598	25568598	+	Missense_Mutation	SNP	A	A	T																															cattcacaggatctatttttAgccaattggcaggatcagat																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:25568598A>T	ENST00000269141.3	-	11	2054	c.1631T>A	c.(1630-1632)cTa>cAa	p.L544Q	CDH2_ENST00000399380.3_Missense_Mutation_p.L513Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	544	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATCTATTTTTAGCCAATTGGC	0.289																																																	0													99	103	101					18																	25568598		2203	4300	6503	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1631T>A	18.37:g.25568598A>T	ENSP00000269141:p.Leu544Gln		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.L544Q	ENST00000269141.3	37	c.1631	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	A	23.9	4.468038	0.84533	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.62364	0.03;0.03	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	H	0.94734	3.575	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.983	D	0.89229	0.3576	10	0.87932	D	0	.	15.9238	0.79597	1.0:0.0:0.0:0.0	.	513;544	A8MWK3;P19022	.;CADH2_HUMAN	Q	544;513	ENSP00000269141:L544Q;ENSP00000382312:L513Q	ENSP00000269141:L544Q	L	-	2	0	CDH2	23822596	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.902000	0.92568	2.221000	0.72209	0.533000	0.62120	CTA	CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin	ENSG00000170558		0.289	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0	45	0	A	NM_001792		25568598	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	63.16	12	24	SNP	1.000	T	T	25568598	A	T	25568598	3	4	8	1	0	0	0	0	1	0	0	0	3112	420	15	5	1113	5	CDH2	18	25568598	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	6	25568598	52508650	190	2362	7	2									
ASXL3	80816	genome.wustl.edu	37	chr18	31311980	31311980	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcagctctaaataatGaattctttgcatatgcagca	13	14	6	8	0	3	1	1	1	2	0	3	1	3	1	0	0	5	5	0	0	6	7			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:31311980G>T	ENST00000269197.5	+	9	928	c.928G>T	c.(928-930)Gaa>Taa	p.E310*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTAAATAATGAATTCTTTGC	0.378																																																	0													138	128	131					18																	31311980		1882	4100	5982	SO:0001587	stop_gained	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.928G>T	18.37:g.31311980G>T	ENSP00000269197:p.Glu310*		Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E310*	ENST00000269197.5	37	c.928	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.680997	0.97759	.	.	ENSG00000141431	ENST00000269197	.	.	.	6.04	6.04	0.98038	.	0.341741	0.28700	N	0.014432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000269197:E310X	E	+	1	0	ASXL3	29565978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.984000	0.93482	2.873000	0.98535	0.563000	0.77884	GAA	ASXL3	-	NULL	ENSG00000141431		0.378	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	72	0	G			31311980	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T	T	31311980	G	T	31311980	4	4	8	1	0	0	0	0	0	1	0	0	1069	1291	45	3	962	3	ASXL3	18	31311980	Nonsense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	5743382	31311980	46765268	191	2363											
WDR7	23335	genome.wustl.edu	37	chr18	54349962	54349962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaaggcttttatgccacgGacattaccctgaaatccttg	11	11	9	10	1	0	1	0	1	0	0	1	3	1	3	3	3	2	1	3	3	4	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:54349962G>T	ENST00000254442.3	+	5	609	c.398G>T	c.(397-399)gGa>gTa	p.G133V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.G133V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	133					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTATGCCACGGACATTACCCT	0.403																																																	0													175	160	165					18																	54349962		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.398G>T	18.37:g.54349962G>T	ENSP00000254442:p.Gly133Val		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G133V	ENST00000254442.3	37	c.398	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625094	0.87560	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.64803	-0.12;-0.12	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.78314	0.991;0.731	T	0.83021	-0.0167	10	0.87932	D	0	.	18.0859	0.89457	0.0:0.0:1.0:0.0	.	133;133	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	133	ENSP00000254442:G133V;ENSP00000350187:G133V	ENSP00000254442:G133V	G	+	2	0	WDR7	52500960	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.680000	0.98651	2.451000	0.82905	0.563000	0.77884	GGA	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000091157		0.403	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0	95	0	G			54349962	1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	54349962	G	T	54349962	3	4	8	1	0	0	0	0	1	0	0	0	17369	1174	41	3	412	3	WDR7	18	54349962	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	23037982	54349962	23727286	192	2364											
MC4R	4160	genome.wustl.edu	37	chr18	58038855	58038855	+	Frame_Shift_Del	DEL	C	C	-																															ggatggtcaaggtaatcgctCccttcatattggcaccttgg																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:58038855delC	ENST00000299766.3	-	1	1146	c.728delG	c.(727-729)ggafs	p.G243fs		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	243					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GGTAATCGCTCCCTTCATATT	0.498																																																	0													83	75	78					18																	58038855		2203	4300	6503	SO:0001589	frameshift_variant	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.728delG	18.37:g.58038855delC	ENSP00000299766:p.Gly243fs		B2RAC3|Q16317|Q3MIJ6	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.G243fs	ENST00000299766.3	37	c.728	CCDS11976.1	18																																																																																			MC4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn	ENSG00000166603		0.498	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1		0	43	0	C	NM_005912		58038855	-1	tier1		no_errors	ENST00000299766	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	1.000	-	-	58038855	C	-	58038855	7	5	8	1	0	1	0	1	0	0	0	0	9404	855	30	0	274	0	MC4R	18	58038855	Frame_Shift_Del	DEL	C	TCGA-2H-A9GM-01A-11D-A37C-09	3688893	58038855	20038393	193	2365											
KIAA1468	57614	genome.wustl.edu	37	chr18	59888296	59888296	+	Frame_Shift_Del	DEL	A	A	-																															agtttgaactacggaaagccAaggagaccattcaggccctc																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:59888296delA	ENST00000398130.2	+	3	875	c.643delA	c.(643-645)aagfs	p.K215fs	KIAA1468_ENST00000256858.6_Frame_Shift_Del_p.K215fs	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	215										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACGGAAAGCCAAGGAGACCAT	0.418																																																	0													120	119	119					18																	59888296		1852	4093	5945	SO:0001589	frameshift_variant	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.643delA	18.37:g.59888296delA	ENSP00000381198:p.Lys215fs			Frame_Shift_Del	DEL	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.K215fs	ENST00000398130.2	37	c.643	CCDS11979.2	18																																																																																			KIAA1468	-	NULL	ENSG00000134444		0.418	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1		0	69	0	A	NM_020854		59888296	1	tier1		no_errors	ENST00000256858	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	1.000	-	-	59888296	A	-	59888296	7	5	8	1	0	1	0	1	0	0	0	0	8263	131	5	0	653	0	KIAA1468	18	59888296	Frame_Shift_Del	DEL	A	TCGA-2H-A9GM-01A-11D-A37C-09	1849441	59888296	18188952	194	2366											
ZNF236	7776	genome.wustl.edu	37	chr18	74607162	74607162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaagacgcacaccggcatCaaggcgttcaagtgccagta	13	6	10	12	3	3	1	3	0	0	1	3	1	3	1	2	2	1	4	2	2	4	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr18:74607162C>T	ENST00000253159.8	+	10	1803	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	ZNF236_ENST00000320610.9_Silent_p.I537I	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	535					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ACACCGGCATCAAGGCGTTCA	0.612																																																	0													66	73	71					18																	74607162		2203	4298	6501	SO:0001819	synonymous_variant	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1605C>T	18.37:g.74607162C>T			B2RTX9|Q9UL37	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I535	ENST00000253159.8	37	c.1605	CCDS42447.1	18																																																																																			ZNF236	-	pfscan_Znf_C2H2	ENSG00000130856		0.612	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1		0	33	0	C			74607162	1			no_errors	ENST00000253159	ensembl	human	known	74_37	silent	11.76	60	8	SNP	1.000	T	T	74607162	C	T	74607162	2	4	8	1	0	0	0	0	0	0	0	1	17837	816	29	3		3	ZNF236	18	74607162	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	14718866	74607162	3470086	195	2367											
GIPC3	126326	genome.wustl.edu	37	chr19	3590156	3590156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtggaagtgtgggccGccatcggcgaggccagagag	7	7	19	8	3	0	1	0	0	0	1	1	4	0	2	3	5	0	0	3	5	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:3590156G>A	ENST00000322315.5	+	6	952	c.907G>A	c.(907-909)Gcc>Acc	p.A303T		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	303										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGTGGGCCGCCATCGGCGA	0.677																																																	0													26	31	29					19																	3590156		2202	4299	6501	SO:0001583	missense	0			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.907G>A	19.37:g.3590156G>A	ENSP00000319254:p.Ala303Thr		O75227	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.A303T	ENST00000322315.5	37	c.907	CCDS32871.1	19	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296887	0.60086	.	.	ENSG00000179855	ENST00000322315	D	0.82619	-1.63	4.28	4.28	0.50868	.	0.070645	0.53938	D	0.000045	T	0.80401	0.4616	M	0.77486	2.375	0.58432	D	0.999999	P	0.50943	0.94	B	0.35182	0.197	D	0.84478	0.0603	10	0.59425	D	0.04	-27.0071	14.2223	0.65836	0.0:0.0:1.0:0.0	.	303	Q8TF64	GIPC3_HUMAN	T	303	ENSP00000319254:A303T	ENSP00000319254:A303T	A	+	1	0	GIPC3	3541156	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.126000	0.94411	1.948000	0.56530	0.491000	0.48974	GCC	GIPC3	-	pirsf_UCP038083_PDZ	ENSG00000179855		0.677	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1	-	0	52	0	G	NM_133261		3590156	1	tier1	-	no_errors	ENST00000322315	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.998	A	A	3590156	G	A	3590156	3	1	8	1	0	0	0	0	1	0	0	0	6420	1087	38	1	929	1	GIPC3	19	3590156	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		3590156	55538827	196	2368											
XAB2	56949	genome.wustl.edu	37	chr19	7685508	7685508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgagcttgcactccatGtctgcaaaccgcaggcacat	9	8	8	16	2	1	0	0	0	1	0	3	1	3	0	4	1	4	5	4	1	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:7685508G>T	ENST00000358368.4	-	15	2056	c.2019C>A	c.(2017-2019)gaC>gaA	p.D673E	XAB2_ENST00000534844.1_Missense_Mutation_p.D670E	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	673					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCACTCCATGTCTGCAAACC	0.677								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													42	43	43					19																	7685508		2203	4300	6503	SO:0001583	missense	0			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"SYF1 homolog, RNA splicing factor (S. cerevisiae)", "SYF1 pre-mRNA-splicing factor"	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2019C>A	19.37:g.7685508G>T	ENSP00000351137:p.Asp673Glu		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D673E	ENST00000358368.4	37	c.2019	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.484268	0.01027	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.40756	1.02;1.02	4.31	-0.523	0.11924	Tetratricopeptide-like helical (1);	0.060287	0.64402	N	0.000006	T	0.19565	0.0470	N	0.25144	0.715	0.48511	D	0.999667	B	0.17268	0.021	B	0.14023	0.01	T	0.31420	-0.9944	10	0.02654	T	1	-33.9963	7.4156	0.27042	0.3025:0.1193:0.5782:0.0	.	673	Q9HCS7	SYF1_HUMAN	E	673;670	ENSP00000351137:D673E;ENSP00000438225:D670E	ENSP00000351137:D673E	D	-	3	2	XAB2	7591508	1.000000	0.71417	0.895000	0.35142	0.219000	0.24729	2.023000	0.41040	-0.120000	0.11809	-1.641000	0.00772	GAC	XAB2	-	NULL	ENSG00000076924		0.677	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	-	0	47	0	G	NM_020196		7685508	-1	tier1	-	no_errors	ENST00000358368	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	T	T	7685508	G	T	7685508	3	4	8	1	0	0	0	0	1	0	0	0	17467	1368	48	3	568	3	XAB2	19	7685508	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	4095352	7685508	51443475	197	2369											
MUC16	94025	genome.wustl.edu	37	chr19	9066962	9066962	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagtgaggtcataggagaAggagtggtgtgaatggtctt	11	10	17	3	0	2	3	1	2	1	1	2	5	2	4	0	5	1	1	0	5	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:9066962A>G	ENST00000397910.4	-	3	20687	c.20484T>C	c.(20482-20484)ccT>ccC	p.P6828P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6830	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATAGGAGAAGGAGTGGTGT	0.493																																																	0													178	173	174					19																	9066962		2058	4217	6275	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20484T>C	19.37:g.9066962A>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P6828	ENST00000397910.4	37	c.20484	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	44	0	A	NM_024690		9066962	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.000	G	G	9066962	A	G	9066962	2	3	8	1	0	0	0	0	0	0	0	1	10011	59	3	4		4	MUC16	19	9066962	Silent	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	1381454	9066962	50062021	198	2370											
CLEC17A	388512	genome.wustl.edu	37	chr19	14710574	14710574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagcatgacattgcccGtgtaagagctgacaccaacc	12	7	9	13	1	0	4	0	3	0	1	0	4	0	4	4	0	4	3	4	0	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:14710574G>A	ENST00000417570.1	+	11	730	c.692G>A	c.(691-693)cGt>cAt	p.R231H	CLEC17A_ENST00000397439.2_Missense_Mutation_p.R214H|CLEC17A_ENST00000547437.1_Missense_Mutation_p.R231H	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	231						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										GACATTGCCCGTGTAAGAGCT	0.567																																																	0													52	54	53					19																	14710574		2030	4192	6222	SO:0001583	missense	0			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.692G>A	19.37:g.14710574G>A	ENSP00000393719:p.Arg231His		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R231H	ENST00000417570.1	37	c.692	CCDS56087.1	19	.	.	.	.	.	.	.	.	.	.	G	6.731	0.503584	0.12822	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.64085	-0.08;-0.08;-0.08	4.5	-1.24	0.09435	.	0.683764	0.11645	N	0.543345	T	0.37433	0.1003	N	0.12746	0.255	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.013	B;B;B	0.09377	0.004;0.004;0.002	T	0.18241	-1.0343	10	0.34782	T	0.22	-17.8235	6.9495	0.24538	0.5982:0.0:0.4018:0.0	.	231;231;231	Q6ZS10-2;Q6ZS10-3;Q6ZS10	.;.;CL17A_HUMAN	H	231;214;231	ENSP00000450065:R231H;ENSP00000380581:R214H;ENSP00000393719:R231H	ENSP00000341620:R231H	R	+	2	0	CLEC17A	14571574	0.000000	0.05858	0.003000	0.11579	0.292000	0.27327	-1.565000	0.02150	0.025000	0.15241	0.655000	0.94253	CGT	CLEC17A	-	NULL	ENSG00000187912		0.567	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1		0	47	0	G	NM_207390		14710574	1			no_errors	ENST00000417570	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.001	A	A	14710574	G	A	14710574	3	1	8	1	0	0	0	0	1	0	0	0	3508	1145	40	1	679	1	CLEC17A	19	14710574	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	5643612	14710574	44418409	199	2371											
NOTCH3	4854	genome.wustl.edu	37	chr19	15290185	15290185	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcatacccagcgttccTgggggacaggagcagagata	10	6	14	11	1	0	1	0	0	0	1	1	4	1	3	3	4	3	3	3	4	2	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:15290185T>A	ENST00000263388.2	-	21	3525	c.3450A>T	c.(3448-3450)ccA>ccT	p.P1150P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1150	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCAGCGTTCCTGGGGGACAGG	0.622																																																	0													66	64	65					19																	15290185		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3450A>T	19.37:g.15290185T>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P1150	ENST00000263388.2	37	c.3450	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.622	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1		0	61	0	T	NM_000435		15290185	-1			no_errors	ENST00000263388	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.183	A	A	15290185	T	A	15290185	2	1	8	1	0	0	0	0	0	0	0	1	10589	1567	55	5		5	NOTCH3	19	15290185	Silent	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	579611	15290185	43838798	200	2372											
EPHX3	79852	genome.wustl.edu	37	chr19	15341894	15341894	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggccacaaggatgcacttCgagtaacctgtgggaattca	11	9	12	9	1	1	0	1	0	0	0	2	3	1	2	2	3	2	2	2	3	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:15341894C>T	ENST00000221730.3	-	4	715	c.495G>A	c.(493-495)tcG>tcA	p.S165S	EPHX3_ENST00000435261.1_Silent_p.S165S|EPHX3_ENST00000602233.1_Silent_p.S165S	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	165						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGATGCACTTCGAGTAACCTG	0.572																																																	0													91	78	83					19																	15341894		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"Abhydrolase domain containing"	23760	protein-coding gene	gene with protein product			"abhydrolase domain containing 9"	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.495G>A	19.37:g.15341894C>T			A3KMR3	Silent	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.S165	ENST00000221730.3	37	c.495	CCDS12327.1	19																																																																																			EPHX3	-	pfam_AB_hydrolase_1	ENSG00000105131		0.572	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EPHX3	HGNC	protein_coding	OTTHUMT00000465797.1		0	50	0	C	NM_024794		15341894	-1			no_errors	ENST00000221730	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.999	T	T	15341894	C	T	15341894	2	4	8	1	0	0	0	0	0	0	0	1	5197	871	31	1		1	EPHX3	19	15341894	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	51709	15341894	43787089	201	2373											
ZNF43	7594	genome.wustl.edu	37	chr19	21992508	21992508	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctttttttaaatgtacatTtttatgttcacagtttttat	9	24	4	4	0	2	0	1	0	1	0	2	0	2	0	0	0	1	3	0	0	5	12			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:21992508T>G	ENST00000354959.4	-	4	500	c.331A>C	c.(331-333)Aat>Cat	p.N111H	ZNF43_ENST00000595461.1_Missense_Mutation_p.N105H|ZNF43_ENST00000598381.1_Missense_Mutation_p.N105H|ZNF43_ENST00000594012.1_Missense_Mutation_p.N105H	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAATGTACATTTTTATGTTCA	0.363																																																	0													72	74	73					19																	21992508		2203	4295	6498	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.331A>C	19.37:g.21992508T>G	ENSP00000347045:p.Asn111His		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N111H	ENST00000354959.4	37	c.331	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	T	7.961	0.747008	0.15710	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.05513	3.43	0.916	-0.309	0.12769	.	.	.	.	.	T	0.22742	0.0549	M	0.92691	3.335	0.09310	N	1	D	0.71674	0.998	D	0.65573	0.936	T	0.08868	-1.0701	9	0.42905	T	0.14	.	2.6333	0.04951	0.0:0.4243:0.3067:0.2691	.	111	P17038	ZNF43_HUMAN	H	110;111	ENSP00000347045:N111H	ENSP00000347045:N111H	N	-	1	0	ZNF43	21784348	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	0.175000	0.16762	0.257000	0.21650	0.254000	0.18369	AAT	ZNF43	-	NULL	ENSG00000198521		0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	-	0	97	0	T	NM_003423		21992508	-1	tier1	-	no_errors	ENST00000354959	ensembl	human	known	74_37	missense	53.33	28	32	SNP	0.000	G	G	21992508	T	G	21992508	3	3	8	1	0	0	0	0	1	0	0	0	17951	1841	64	4	2102	4	ZNF43	19	21992508	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	6650614	21992508	37136475	202	2374											
ZNF681	148213	genome.wustl.edu	37	chr19	23927993	23927993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctcctttttgcactttgCactcatccacacttttactt	8	17	2	14	0	1	0	1	0	0	0	3	0	3	0	3	0	4	2	3	0	2	6			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:23927993C>A	ENST00000402377.3	-	4	500	c.359G>T	c.(358-360)tGc>tTc	p.C120F	ZNF681_ENST00000395385.3_Missense_Mutation_p.C51F	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTGCACTTTGCACTCATCCAC	0.323																																																	0													57	55	56					19																	23927993		2202	4298	6500	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.359G>T	19.37:g.23927993C>A	ENSP00000384000:p.Cys120Phe		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C120F	ENST00000402377.3	37	c.359	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	11.55	1.671386	0.29693	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.09255	3.22;3.0;5.93;6.16	1.23	1.23	0.21249	.	.	.	.	.	T	0.15219	0.0367	M	0.77616	2.38	0.09310	N	1	B	0.25272	0.122	B	0.27262	0.078	T	0.19516	-1.0303	9	0.66056	D	0.02	.	7.9364	0.29933	0.0:1.0:0.0:0.0	.	120	Q96N22	ZN681_HUMAN	F	120;51;51;51	ENSP00000384000:C120F;ENSP00000378783:C51F;ENSP00000433806:C51F;ENSP00000435824:C51F	ENSP00000378783:C51F	C	-	2	0	ZNF681	23719833	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-0.210000	0.09345	0.630000	0.30394	0.306000	0.20318	TGC	ZNF681	-	NULL	ENSG00000196172		0.323	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	87	0	C	NM_138286		23927993	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	28.36	48	19	SNP	0.029	A	A	23927993	C	A	23927993	3	1	8	1	0	0	0	0	1	0	0	0	18136	710	25	3	1582	3	ZNF681	19	23927993	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	1935485	23927993	35200990	203	2375											
CCNE1	898	genome.wustl.edu	37	chr19	30303882	30303882	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttcatgttagtttttgCaggatccagatgaagaaatg	11	14	11	5	0	1	3	1	1	0	2	2	4	2	4	1	2	1	4	1	2	3	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:30303882C>T	ENST00000262643.3	+	4	397	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	CCNE1_ENST00000444983.2_Nonsense_Mutation_p.Q25*|CCNE1_ENST00000357943.5_Nonsense_Mutation_p.Q40*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	40					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TTAGTTTTTGCAGGATCCAGA	0.532			A		serous ovarian																																			Dom	yes		19	19q12	898	cyclin E1		E	0													80	84	82					19																	30303882		2203	4300	6503	SO:0001587	stop_gained	0			M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"cyclin Es", "cyclin Et"	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.118C>T	19.37:g.30303882C>T	ENSP00000262643:p.Gln40*		A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Nonsense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.Q40*	ENST00000262643.3	37	c.118	CCDS12419.1	19	.	.	.	.	.	.	.	.	.	.	C	40	8.223493	0.98714	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	.	.	.	4.58	4.58	0.56647	.	0.127336	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.713	0.85389	0.0:1.0:0.0:0.0	.	.	.	.	X	40;40;25	.	ENSP00000262643:Q40X	Q	+	1	0	CCNE1	34995722	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.705000	0.74644	2.217000	0.71921	0.561000	0.74099	CAG	CCNE1	-	pirsf_Cyclin_A/B/D/E	ENSG00000105173		0.532	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE1	HGNC	protein_coding	OTTHUMT00000438138.1	-	0	94	0	C	NM_001238		30303882	1	tier1	-	no_errors	ENST00000262643	ensembl	human	known	74_37	nonsense	5.43	87	5	SNP	1.000	T	T	30303882	C	T	30303882	4	4	8	1	0	0	0	0	0	1	0	0	2927	711	25	3	128	3	CCNE1	19	30303882	Nonsense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	6375889	30303882	28825101	204	2376											
ZNF790	388536	genome.wustl.edu	37	chr19	37314262	37314262	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaataaagagaacgcttCtggctgataaatgcaaaaac	17	8	7	9	1	1	2	0	1	1	1	2	3	2	2	1	1	3	3	1	1	8	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:37314262C>A	ENST00000356725.4	-	4	274	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAACGCTTCTGGCTGATAA	0.433																																																	0													50	46	47					19																	37314262		2203	4300	6503	SO:0001587	stop_gained	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.154G>T	19.37:g.37314262C>A	ENSP00000349161:p.Glu52*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E52*	ENST00000356725.4	37	c.154	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203156	0.58234	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	.	.	.	3.58	1.1	0.20463	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.0148	0.14330	0.0:0.5477:0.323:0.1293	.	.	.	.	X	52	.	ENSP00000349161:E52X	E	-	1	0	ZNF790	42006102	0.000000	0.05858	0.788000	0.31933	0.516000	0.34256	-0.319000	0.08039	0.210000	0.20664	-0.384000	0.06662	GAA	ZNF790	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197863		0.433	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0	36	0	C	NM_206894		37314262	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	nonsense	21.43	33	9	SNP	0.401	A	A	37314262	C	A	37314262	4	1	8	1	0	0	0	0	0	1	0	0	18210	922	32	3	1764	3	ZNF790	19	37314262	Nonsense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	7010380	37314262	21814721	205	2377											
RYR1	6261	genome.wustl.edu	37	chr19	38979876	38979876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatgattgagcctgaGgtcttcactgaggaagaaga	13	10	13	5	0	2	8	1	5	1	3	2	9	2	9	1	2	1	0	1	2	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:38979876G>T	ENST00000359596.3	+	35	5607	c.5607G>T	c.(5605-5607)gaG>gaT	p.E1869D	RYR1_ENST00000355481.4_Missense_Mutation_p.E1869D|RYR1_ENST00000360985.3_Missense_Mutation_p.E1869D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1869	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTGAGCCTGAGGTCTTCACTg	0.512																																																	0													106	89	94					19																	38979876		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5607G>T	19.37:g.38979876G>T	ENSP00000352608:p.Glu1869Asp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E1869D	ENST00000359596.3	37	c.5607	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	a	10.36	1.329407	0.24167	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.06528	3.29;3.29;3.29	4.06	2.96	0.34315	.	0.630262	0.13644	U	0.372753	T	0.03651	0.0104	N	0.19112	0.55	0.28322	N	0.922206	P;P	0.37548	0.599;0.467	B;B	0.35312	0.137;0.2	T	0.35699	-0.9778	10	0.30854	T	0.27	.	2.7872	0.05377	0.425:0.0:0.232:0.3431	.	1869;1869	P21817-2;P21817	.;RYR1_HUMAN	D	1869	ENSP00000352608:E1869D;ENSP00000347667:E1869D;ENSP00000354254:E1869D	ENSP00000347667:E1869D	E	+	3	2	RYR1	43671716	0.348000	0.24861	0.975000	0.42487	0.666000	0.39218	0.066000	0.14489	0.595000	0.29777	-0.407000	0.06327	GAG	RYR1	-	NULL	ENSG00000196218		0.512	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0	48	0	G			38979876	1			no_errors	ENST00000359596	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	38979876	G	T	38979876	3	4	8	1	0	0	0	0	1	0	0	0	13813	991	35	3	5745	3	RYR1	19	38979876	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	1665614	38979876	20149107	206	2378											
SAMD4B	55095	genome.wustl.edu	37	chr19	39866396	39866396	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccagaggagcttggggcCcgggctgcttttaccacgcc	6	8	14	13	2	0	1	0	0	0	1	1	2	1	2	4	4	3	3	4	4	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:39866396C>A	ENST00000314471.6	+	7	1809	c.774C>A	c.(772-774)gcC>gcA	p.A258A	SAMD4B_ENST00000596368.1_Silent_p.A258A|SAMD4B_ENST00000598913.1_Silent_p.A258A	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AGCTTGGGGCCCGGGCTGCTT	0.652																																																	0													77	84	82					19																	39866396		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.774C>A	19.37:g.39866396C>A			A5Z0M6|Q6P194	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.A258	ENST00000314471.6	37	c.774	CCDS33020.1	19																																																																																			SAMD4B	-	NULL	ENSG00000179134		0.652	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1		0	54	0	C	NM_018028		39866396	1			no_errors	ENST00000314471	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.998	A	A	39866396	C	A	39866396	2	1	8	1	0	0	0	0	0	0	0	1	13867	610	22	3		3	SAMD4B	19	39866396	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	886520	39866396	19262587	207	2379											
ZNF223	7766	genome.wustl.edu	37	chr19	44570564	44570564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcgcttcatattcatCagagagtccacctgggagag	10	10	10	11	1	4	2	4	0	1	2	6	4	5	2	2	1	1	1	2	1	1	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:44570564C>A	ENST00000434772.3	+	5	838	c.583C>A	c.(583-585)Cag>Aag	p.Q195K	ZNF223_ENST00000591793.1_Missense_Mutation_p.Q305K	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TCATATTCATCAGAGAGTCCA	0.438																																																	0													143	145	144					19																	44570564		2203	4300	6503	SO:0001583	missense	0			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.583C>A	19.37:g.44570564C>A	ENSP00000401947:p.Gln195Lys		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q305K	ENST00000434772.3	37	c.913	CCDS12635.1	19	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841369	0.71488	.	.	ENSG00000178386	ENST00000434772	T	0.17528	2.27	2.46	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15262	0.0368	L	0.45352	1.415	0.80722	D	1	P	0.44044	0.825	B	0.43301	0.415	T	0.04427	-1.0952	9	0.40728	T	0.16	.	8.0151	0.30376	0.0:0.8652:0.0:0.1348	.	195	Q9UK11	ZN223_HUMAN	K	195	ENSP00000401947:Q195K	ENSP00000401947:Q195K	Q	+	1	0	ZNF223	49262404	0.000000	0.05858	0.072000	0.20136	0.978000	0.69477	0.386000	0.20702	0.352000	0.24053	0.313000	0.20887	CAG	ZNF223	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267022		0.438	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Uniprot_gn	protein_coding	OTTHUMT00000460469.2	-	0	116	0	C			44570564	1	tier1	-	no_errors	ENST00000591793	ensembl	human	known	74_37	missense	51.09	45	47	SNP	0.974	A	A	44570564	C	A	44570564	3	1	8	1	0	0	0	0	1	0	0	0	17825	827	29	3	597	3	ZNF223	19	44570564	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	4704168	44570564	14558419	208	2380											
MYBPC2	4606	genome.wustl.edu	37	chr19	50939932	50939932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggaccgtgggtattaccGcctcgaggtcaaagccaagg	9	6	16	10	3	1	0	1	0	0	0	2	2	1	1	4	5	2	1	4	5	4	2	rs373378823		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:50939932G>A	ENST00000357701.5	+	5	455	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	135	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGGTATTACCGCCTCGAGGTC	0.612													-|||	0	0	0	0	5008	,	,		17489	0		0	False		,,,				2504	0																0								G	HIS/ARG	1,4105		0,1,2052	109	108	108		404	3.2	1	19		108	1,8345		0,1,4172	no	missense	MYBPC2	NM_004533.3	29	0,2,6224	AA,AG,GG		0.012,0.0244,0.0161	probably-damaging	135/1142	50939932	2,12450	2053	4173	6226	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.404G>A	19.37:g.50939932G>A	ENSP00000350332:p.Arg135His		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R135H	ENST00000357701.5	37	c.404	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	23.9	4.475284	0.84640	2.44E-4	1.2E-4	ENSG00000086967	ENST00000357701	T	0.44083	0.93	3.24	3.24	0.37175	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.29660	U	0.011540	T	0.65069	0.2656	M	0.82517	2.595	0.50467	D	0.99987	D	0.89917	1.0	D	0.71184	0.972	T	0.72779	-0.4190	10	0.72032	D	0.01	.	14.4405	0.67314	0.0:0.0:1.0:0.0	.	135	Q14324	MYPC2_HUMAN	H	135	ENSP00000350332:R135H	ENSP00000350332:R135H	R	+	2	0	MYBPC2	55631744	1.000000	0.71417	0.982000	0.44146	0.871000	0.50021	8.533000	0.90617	2.142000	0.66516	0.450000	0.29827	CGC	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000086967		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	-	0	45	0	G	NM_004533		50939932	1	tier1	-	no_errors	ENST00000357701	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	50939932	G	A	50939932	3	1	8	1	0	0	0	0	1	0	0	0	10050	1087	38	1	422	1	MYBPC2	19	50939932	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	6369368	50939932	8189051	209	2381											
ZNF83	55769	genome.wustl.edu	37	chr19	53116987	53116987	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggattctctgatgttgTgcaaggtgtgaaatatgatg	9	15	14	3	0	1	3	0	3	1	0	2	4	1	4	0	2	1	2	0	2	3	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:53116987T>A	ENST00000597597.1	-	2	3084	c.831A>T	c.(829-831)gcA>gcT	p.A277A	ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000536937.1_Silent_p.A277A|ZNF83_ENST00000544146.1_Silent_p.A277A|ZNF83_ENST00000541777.2_Silent_p.A277A|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Silent_p.A277A|ZNF83_ENST00000301096.3_Silent_p.A277A|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTGATGTTGTGCAAGGTGTG	0.403																																																	0													88	81	84					19																	53116987		2172	4215	6387	SO:0001819	synonymous_variant	0			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.831A>T	19.37:g.53116987T>A			A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A277	ENST00000597597.1	37	c.831	CCDS12854.1	19																																																																																			ZNF83	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167766		0.403	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	-	0	58	0	T	NM_018300		53116987	-1	tier1	-	no_errors	ENST00000301096	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.000	A	A	53116987	T	A	53116987	2	1	8	1	0	0	0	0	0	0	0	1	18231	1683	59	5		5	ZNF83	19	53116987	Silent	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	2177055	53116987	6011996	210	2382											
LILRA1	11024	genome.wustl.edu	37	chr19	55106867	55106867	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagctcctggtcctaGgtgagaaattcacagcattg	9	11	11	10	0	1	1	1	1	0	1	4	3	4	2	3	3	2	2	3	3	2	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:55106867G>T	ENST00000251372.3	+	5	843	c.661G>T	c.(661-663)Ggt>Tgt	p.G221C	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Splice_Site_p.G221*	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	221	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTGGTCCTAGGTGAGAAATT	0.582																																																	0													101	111	108					19																	55106867		2203	4300	6503	SO:0001630	splice_region_variant	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.661+1G>T	19.37:g.55106867G>T			O75018|Q3MJA6	Nonsense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.G221*	ENST00000251372.3	37	c.661	CCDS12901.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.954889|4.954889	0.92726|0.92726	.|.	.|.	ENSG00000104974|ENSG00000104974	ENST00000251372|ENST00000453777	T|.	0.01397|.	4.94|.	2.24|2.24	2.24|2.24	0.28232|0.28232	Immunoglobulin-like fold (1);|.	0.160322|0.160322	0.29884|0.29884	N|N	0.010943|0.010943	D|.	0.82314|.	0.5010|.	H|H	0.97240|0.97240	3.965|3.965	0.80722|0.80722	A|A	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.91635|.	0.993;0.999|.	D|.	0.87607|.	0.2501|.	9|.	0.87932|0.87932	D|D	0|0	.|.	8.5316|8.5316	0.33337|0.33337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	221;221|.	O75019-2;O75019|.	.;LIRA1_HUMAN|.	C|X	221|221	ENSP00000251372:G221C|.	ENSP00000251372:G221C|ENSP00000413715:G221X	G|G	+|+	1|1	0|0	LILRA1|LILRA1	59798679|59798679	0.999000|0.999000	0.42202|0.42202	0.248000|0.248000	0.24265|0.24265	0.255000|0.255000	0.26057|0.26057	2.332000|2.332000	0.43903|0.43903	1.198000|1.198000	0.43158|0.43158	0.194000|0.194000	0.17425|0.17425	GGT|GGA	LILRA1	-	NULL	ENSG00000104974		0.582	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	-	0	85	0	G	NM_006863	Missense_Mutation	55106867	1	tier1	-	no_errors	ENST00000453777	ensembl	human	novel	74_37	nonsense	51.32	37	39	SNP	0.760	T	T	55106867	G	T	55106867	5	4	8	1	0	0	0	0	0	0	1	0	8813	1014	35	3	675	3	LILRA1	19	55106867	Splice_Site	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	1989880	55106867	4022116	211	2383											
KIR2DL1	3811	genome.wustl.edu	37	chr19	55295113	55295113	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgatgaacaagaccctcagGaggtgacatacacacagttg	14	7	10	10	0	1	4	1	3	0	1	1	5	1	5	1	2	2	1	1	2	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:55295113G>A	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000336077.6_Missense_Mutation_p.E299K|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.E325K|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.E299K			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AGACCCTCAGGAGGTGACATA	0.493																																																	0													15	17	16					19																	55295113		2092	4093	6185	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-33876G>A	19.37:g.55295113G>A			O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E299K	ENST00000538269.1	37	c.895		19	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237468	0.39498	.	.	ENSG00000243772;ENSG00000125498;ENSG00000125498	ENST00000434419;ENST00000336077;ENST00000291633	T;T;T	0.00509	7.1;7.07;6.91	1.08	-0.0262	0.13931	.	.	.	.	.	T	0.01421	0.0046	M	0.90814	3.15	0.09310	N	1	P;P;D;D	0.67145	0.866;0.602;0.969;0.996	P;B;P;P	0.62184	0.598;0.208;0.601;0.899	T	0.43048	-0.9415	9	0.87932	D	0	.	3.1205	0.06389	0.3249:0.0:0.6751:0.0	.	325;300;299;299	Q6IST4;E3NZD7;Q6H2H3;P43627	.;.;.;KI2L2_HUMAN	K	299;299;325	ENSP00000415758:E299K;ENSP00000336769:E299K;ENSP00000291633:E325K	ENSP00000291633:E325K	E	+	1	0	KIR2DL1;KIR2DL3	59986925	0.990000	0.36364	0.130000	0.21974	0.198000	0.23893	2.269000	0.43346	0.028000	0.15324	0.184000	0.17185	GAG	KIR2DL1	-	NULL	ENSG00000125498		0.493	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	HGNC	protein_coding		-	0	55	0	G	NM_013289		55295113	1	tier1	-	no_errors	ENST00000336077	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.164	A	A	55295113	G	A	55295113	1	1	8	0	1	0	0	0	0	0	0	0	8343	1175	41	3		3	KIR2DL1	19	55295113	Intron	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	188246	55295113	3833870	212	2384											
PEG3	5178	genome.wustl.edu	37	chr19	57325627	57325627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctccacttctggctcagCagcctctacgtttaagccct	7	11	7	16	1	3	0	1	0	2	0	4	0	4	0	4	1	5	3	4	1	2	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr19:57325627C>A	ENST00000326441.9	-	10	4546	c.4183G>T	c.(4183-4185)Gct>Tct	p.A1395S	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.A1269S|PEG3_ENST00000598410.1_Missense_Mutation_p.A1271S|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A1395S	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1395	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTGGCTCAGCAGCCTCTACG	0.572																																																	0													51	51	51					19																	57325627		2201	4293	6494	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4183G>T	19.37:g.57325627C>A	ENSP00000326581:p.Ala1395Ser		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A1395S	ENST00000326441.9	37	c.4183	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671969	0.67928	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	3.7	3.7	0.42460	.	0.000000	0.39834	N	0.001247	T	0.06645	0.0170	L	0.32530	0.975	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72075	0.976;0.976;0.976	T	0.44498	-0.9324	9	0.08381	T	0.77	-20.5021	13.7818	0.63087	0.0:1.0:0.0:0.0	.	1271;1395;1330	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	S	1395	ENSP00000326581:A1395S;ENSP00000403051:A1395S	ENSP00000326581:A1395S	A	-	1	0	ZIM2	62017439	0.246000	0.23909	0.980000	0.43619	0.818000	0.46254	1.059000	0.30517	2.372000	0.80975	0.655000	0.94253	GCT	PEG3	-	NULL	ENSG00000198300		0.572	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	84	0	C			57325627	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	35.16	59	32	SNP	1.000	A	A	57325627	C	A	57325627	3	1	8	1	0	0	0	0	1	0	0	0	11759	710	25	3	587	3	PEG3	19	57325627	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	2030514	57325627	1803356	213	2385											
PSMF1	9491	genome.wustl.edu	37	chr20	1115834	1115834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacctatccatgagcagTgggaaaaggctaatgtaagc	14	8	10	9	0	1	1	1	1	0	0	2	2	2	2	2	2	2	3	2	2	5	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr20:1115834T>C	ENST00000335877.6	+	4	612	c.436T>C	c.(436-438)Tgg>Cgg	p.W146R	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.W58R|PSMF1_ENST00000246015.4_Missense_Mutation_p.W146R|PSMF1_ENST00000333082.3_Missense_Mutation_p.W146R|PSMF1_ENST00000438768.2_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	146	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCATGAGCAGTGGGAAAAGGC	0.552																																																	0													131	114	120					20																	1115834		2203	4300	6503	SO:0001583	missense	0			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.436T>C	20.37:g.1115834T>C	ENSP00000338039:p.Trp146Arg		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	pfam_FP_dom,pfam_PI31_Prot_Reg	p.W146R	ENST00000335877.6	37	c.436	CCDS13010.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.231|3.231	-0.157362|-0.157362	0.06544|0.06544	.|.	.|.	ENSG00000125818|ENSG00000125818	ENST00000435720|ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	.|T;T;T;T;T	.|0.39997	.|1.05;1.05;1.05;1.05;1.05	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	.|0.464642	.|0.21861	.|N	.|0.068027	T|T	0.23014|0.23014	0.0556|0.0556	N|N	0.16368|0.16368	0.405|0.405	0.24569|0.24569	N|N	0.993937|0.993937	.|P;B;B;B	.|0.35982	.|0.531;0.229;0.001;0.0	.|B;B;B;B	.|0.35353	.|0.201;0.072;0.003;0.003	T|T	0.13308|0.13308	-1.0514|-1.0514	5|10	.|0.13470	.|T	.|0.59	-8.3812|-8.3812	7.654|7.654	0.28365|0.28365	0.0:0.0915:0.0:0.9085|0.0:0.0915:0.0:0.9085	.|.	.|58;58;146;146	.|F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.|.;.;.;PSMF1_HUMAN	A|R	5|146;58;146;58;146;146	.|ENSP00000327704:W146R;ENSP00000371323:W58R;ENSP00000371324:W146R;ENSP00000246015:W146R;ENSP00000338039:W146R	.|ENSP00000246015:W146R	V|W	+|+	2|1	0|0	PSMF1|PSMF1	1063834|1063834	0.982000|0.982000	0.34865|0.34865	0.992000|0.992000	0.48379|0.48379	0.972000|0.972000	0.66771|0.66771	2.213000|2.213000	0.42844|0.42844	2.191000|2.191000	0.70037|0.70037	0.528000|0.528000	0.53228|0.53228	GTG|TGG	PSMF1	-	pfam_FP_dom	ENSG00000125818		0.552	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	-	0	54	0	T	NM_178578		1115834	1	tier1	-	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.566	C	C	1115834	T	C	1115834	3	2	8	1	0	0	0	0	1	0	0	0	12752	1696	59	4	450	4	PSMF1	20	1115834	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09		1115834	61909686	214	2386											
MYH7B	57644	genome.wustl.edu	37	chr20	33584467	33584467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcatggacacggagcggGccaagcgcaagctggagggt	9	4	18	10	4	0	0	0	0	0	0	0	3	0	3	1	5	4	3	1	5	2	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr20:33584467G>A	ENST00000262873.7	+	28	3390	c.3298G>A	c.(3298-3300)Gcc>Acc	p.A1100T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1058						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CACGGAGCGGGCCAAGCGCAA	0.622																																																	0													29	31	31					20																	33584467		2202	4300	6502	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3298G>A	20.37:g.33584467G>A	ENSP00000262873:p.Ala1100Thr		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1100T	ENST00000262873.7	37	c.3298	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113190	0.56398	.	.	ENSG00000078814	ENST00000262873	D	0.91011	-2.77	4.54	4.54	0.55810	.	0.000000	0.37669	N	0.001987	D	0.86527	0.5954	L	0.32530	0.975	0.41741	D	0.989615	B	0.14805	0.011	B	0.10450	0.005	T	0.83241	-0.0058	10	0.51188	T	0.08	.	17.8567	0.88765	0.0:0.0:1.0:0.0	.	1058	A7E2Y1	MYH7B_HUMAN	T	1100	ENSP00000262873:A1100T	ENSP00000262873:A1100T	A	+	1	0	MYH7B	33048128	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	4.626000	0.61269	2.525000	0.85131	0.655000	0.94253	GCC	MYH7B	-	NULL	ENSG00000078814		0.622	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2		0	30	0	G	NM_020884		33584467	1			no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	5.13	74	4	SNP	0.998	A	A	33584467	G	A	33584467	3	1	8	1	0	0	0	0	1	0	0	0	10078	1203	42	3	3408	3	MYH7B	20	33584467	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	32468633	33584467	29441053	215	2387											
SLC13A3	64849	genome.wustl.edu	37	chr20	45204264	45204264	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagaaggatgatgttcCagggcactgtctcctgggcc	8	8	14	11	0	1	2	0	1	1	1	3	4	2	3	4	4	0	2	4	4	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr20:45204264C>T	ENST00000279027.4	-	10	1298	c.1280G>A	c.(1279-1281)tGg>tAg	p.W427*	SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.W377*|SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.W380*|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.W345*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.W380*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.W345*	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	427					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GATGATGTTCCAGGGCACTGT	0.617																																																	0													89	69	76					20																	45204264		2203	4300	6503	SO:0001587	stop_gained	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"Solute carriers"	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1280G>A	20.37:g.45204264C>T	ENSP00000279027:p.Trp427*		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Nonsense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.W427*	ENST00000279027.4	37	c.1280	CCDS13400.1	20	.	.	.	.	.	.	.	.	.	.	C	38	7.228922	0.98150	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6917	17.6296	0.88103	0.0:1.0:0.0:0.0	.	.	.	.	X	380;345;427;345;377;380;380	.	ENSP00000279027:W427X	W	-	2	0	SLC13A3	44637671	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.399000	0.81585	0.655000	0.94253	TGG	SLC13A3	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000158296		0.617	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	-	0	56	0	C			45204264	-1	tier1	-	no_errors	ENST00000279027	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	1.000	T	T	45204264	C	T	45204264	4	4	8	1	0	0	0	0	0	1	0	0	14438	595	21	3	544	3	SLC13A3	20	45204264	Nonsense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	11619797	45204264	17821256	216	2388											
ZNFX1	57169	genome.wustl.edu	37	chr20	47864088	47864088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctctgagatgcccaGgccagagcagggaagggtgg	8	7	15	11	0	2	2	0	1	2	2	3	4	3	3	3	4	2	1	3	4	1	1			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr20:47864088G>T	ENST00000396105.1	-	14	5719	c.5473C>A	c.(5473-5475)Ctg>Atg	p.L1825M	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1825M|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_5'Flank	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1825							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAGATGCCCAGGCCAGAGCAG	0.493																																																	0													98	93	95					20																	47864088		2203	4300	6503	SO:0001583	missense	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.5473C>A	20.37:g.47864088G>T	ENSP00000379412:p.Leu1825Met		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.L1825M	ENST00000396105.1	37	c.5473	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727219	0.69074	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	D;D	0.88896	-2.44;-2.44	6.04	1.35	0.21983	.	0.000000	0.64402	D	0.000004	D	0.91395	0.7285	L	0.53249	1.67	0.41548	D	0.988559	D	0.89917	1.0	D	0.73380	0.98	D	0.90234	0.4281	10	0.56958	D	0.05	-14.0597	11.724	0.51698	0.2916:0.0:0.7084:0.0	.	1825	Q9P2E3	ZNFX1_HUMAN	M	1825	ENSP00000360817:L1825M;ENSP00000379412:L1825M	ENSP00000360817:L1825M	L	-	1	2	ZNFX1	47297495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.034000	0.41145	0.424000	0.26061	0.563000	0.77884	CTG	ZNFX1	-	NULL	ENSG00000124201		0.493	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	-	0	43	0	G	NM_021035		47864088	-1	tier1	-	no_errors	ENST00000371752	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	47864088	G	T	47864088	3	4	8	1	0	0	0	0	1	0	0	0	18253	991	35	3	287	3	ZNFX1	20	47864088	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	2659824	47864088	15161432	217	2389											
BMP7	655	genome.wustl.edu	37	chr20	55803475	55803475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaagaattccttgtcatgttCcactggaagaggaagagaac	14	9	11	7	0	1	3	1	0	0	3	3	7	3	5	2	2	1	1	2	2	5	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr20:55803475C>G	ENST00000395863.3	-	2	926	c.421G>C	c.(421-423)Gaa>Caa	p.E141Q	BMP7_ENST00000450594.2_Missense_Mutation_p.E141Q|BMP7_ENST00000395864.3_Missense_Mutation_p.E141Q	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	141					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TTGTCATGTTCCACTGGAAGA	0.507																																																	0													132	128	129					20																	55803475		2203	4300	6503	SO:0001583	missense	0				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.421G>C	20.37:g.55803475C>G	ENSP00000379204:p.Glu141Gln		Q9H512|Q9NTQ7	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E141Q	ENST00000395863.3	37	c.421	CCDS13455.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.13|19.13	3.767559|3.767559	0.69878|0.69878	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594|ENST00000433911	T;T;T|.	0.66460|.	-0.21;-0.21;-0.21|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Transforming growth factor-beta, N-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75287|0.75287	0.3829|0.3829	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	D;B;D|.	0.71674|.	0.967;0.389;0.998|.	P;B;D|.	0.72625|.	0.834;0.403;0.978|.	T|T	0.73509|0.73509	-0.3960|-0.3960	10|5	0.44086|.	T|.	0.13|.	.|.	19.3842|19.3842	0.94550|0.94550	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	141;141;141|.	B1AKZ9;P18075;B1AL00|.	.;BMP7_HUMAN;.|.	Q|A	141|26	ENSP00000379204:E141Q;ENSP00000379205:E141Q;ENSP00000398687:E141Q|.	ENSP00000379204:E141Q|.	E|G	-|-	1|2	0|0	BMP7|BMP7	55236882|55236882	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.606000|0.606000	0.37113|0.37113	5.564000|5.564000	0.67359|0.67359	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GAA|GGA	BMP7	-	pfam_TGF-b_N	ENSG00000101144		0.507	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BMP7	HGNC	protein_coding	OTTHUMT00000079831.2	-	0	29	0	C			55803475	-1	tier1	-	no_errors	ENST00000395863	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	G	G	55803475	C	G	55803475	3	3	8	1	0	0	0	0	1	0	0	0	1467	864	30	5	898	5	BMP7	20	55803475	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	7939387	55803475	7222045	218	2390											
COL6A1	1291	genome.wustl.edu	37	chr21	47404277	47404277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctcacgcgcatgcctGgcggccgcgacgcactcaaa	9	4	12	16	6	2	0	2	0	0	0	2	1	2	0	3	3	1	2	3	3	2	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr21:47404277G>T	ENST00000361866.3	+	3	436	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	108	N-terminal globular domain.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCGCATGCCTGGCGGCCGCGA	0.617																																																	0													74	52	59					21																	47404277		2200	4298	6498	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.322G>T	21.37:g.47404277G>T	ENSP00000355180:p.Gly108Cys		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G108C	ENST00000361866.3	37	c.322	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880938	0.33255	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.83250	-1.7	4.27	-1.47	0.08772	von Willebrand factor, type A (3);	0.257891	0.38436	N	0.001682	T	0.78811	0.4342	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	D	0.68192	0.956	T	0.72447	-0.4291	10	0.52906	T	0.07	-20.584	8.9661	0.35877	0.82:0.0:0.18:0.0	.	108	P12109	CO6A1_HUMAN	C	108	ENSP00000355180:G108C	ENSP00000355180:G108C	G	+	1	0	COL6A1	46228705	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	0.550000	0.23345	-0.652000	0.05408	0.555000	0.69702	GGC	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.617	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	59	0	G	NM_001848		47404277	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.004	T	T	47404277	G	T	47404277	3	4	8	1	0	0	0	0	1	0	0	0	3706	1348	47	3	332	3	COL6A1	21	47404277	Missense_Mutation	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09		47404277	725618	219	2391											
USP18	11274	genome.wustl.edu	37	chr22	18650040	18650040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtttgtccaacatgatgCtgcccaactgtacctcaaac	11	11	7	12	0	1	1	1	1	0	0	2	1	2	1	3	0	6	3	3	0	4	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr22:18650040C>T	ENST00000215794.7	+	5	849	c.419C>T	c.(418-420)gCt>gTt	p.A140V		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	140	USP.				cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CAACATGATGCTGCCCAACTG	0.473																																																	0													137	117	124					22																	18650040		2203	4298	6501	SO:0001583	missense	0			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.419C>T	22.37:g.18650040C>T	ENSP00000215794:p.Ala140Val		Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.A140V	ENST00000215794.7	37	c.419	CCDS13752.1	22	.	.	.	.	.	.	.	.	.	.	.	16.92	3.256696	0.59321	.	.	ENSG00000184979	ENST00000215794	T	0.10099	2.91	4.81	4.81	0.61882	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.057507	0.64402	D	0.000002	T	0.20495	0.0493	L	0.47716	1.5	0.33207	D	0.55292	D	0.89917	1.0	D	0.85130	0.997	T	0.01409	-1.1362	10	0.02654	T	1	.	13.2443	0.60014	0.0:1.0:0.0:0.0	.	140	Q9UMW8	UBP18_HUMAN	V	140	ENSP00000215794:A140V	ENSP00000215794:A140V	A	+	2	0	USP18	17030040	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	4.010000	0.57117	2.491000	0.84063	0.637000	0.83480	GCT	USP18	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000184979		0.473	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP18	HGNC	protein_coding	OTTHUMT00000316368.1	-	0	65	0	C			18650040	1	tier1	-	no_errors	ENST00000215794	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	18650040	C	T	18650040	3	4	8	1	0	0	0	0	1	0	0	0	17098	797	28	3	433	3	USP18	22	18650040	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09		18650040	32654526	220	2392											
ADRBK2	157	genome.wustl.edu	37	chr22	26063736	26063736	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatttgtgaaagccttCgaggtgacatttttcaaaaa	16	12	8	5	1	1	3	1	2	0	1	2	4	1	3	1	1	1	0	1	1	5	4	rs200930672		TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr22:26063736C>A	ENST00000324198.6	+	6	664	c.472C>A	c.(472-474)Cga>Aga	p.R158R		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	158	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGAAAGCCTTCGAGGTGACAT	0.328																																																	0													67	67	67					22																	26063736		2203	4299	6502	SO:0001819	synonymous_variant	0			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.472C>A	22.37:g.26063736C>A			Q9UGW9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.R158	ENST00000324198.6	37	c.472	CCDS13832.1	22																																																																																			ADRBK2	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000100077		0.328	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4	-	0	24	0	C	NM_005160		26063736	1	tier1	-	no_errors	ENST00000324198	ensembl	human	known	74_37	silent	17.65	14	3	SNP	1.000	A	A	26063736	C	A	26063736	2	1	8	1	0	0	0	0	0	0	0	1	344	876	31	2		2	ADRBK2	22	26063736	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	7413696	26063736	25240830	221	2393											
EMID1	129080	genome.wustl.edu	37	chr22	29627097	29627097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctctggggtccccctcctgCccagggcagccccggagatg	4	6	14	17	1	1	1	0	0	1	1	3	2	3	1	6	4	2	2	6	4	0	0			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr22:29627097C>T	ENST00000404820.3	+	6	681	c.554C>T	c.(553-555)gCc>gTc	p.A185V	EMID1_ENST00000404755.3_Missense_Mutation_p.A185V|EMID1_ENST00000334018.6_Missense_Mutation_p.A185V|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	183	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)		p.A185V(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCCCCTCCTGCCCAGGGCAGC	0.617																																																	1	Substitution - Missense(1)	ovary(1)											51	53	52					22																	29627097		2203	4300	6503	SO:0001583	missense	0			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.554C>T	22.37:g.29627097C>T	ENSP00000384452:p.Ala185Val		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain	p.A185V	ENST00000404820.3	37	c.554		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.645|9.645	1.139924|1.139924	0.21205|0.21205	.|.	.|.	ENSG00000186998|ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127|ENST00000433143	D;T;D;D;T|.	0.90324|.	-2.65;0.59;-2.51;-2.65;0.69|.	4.95|4.95	1.69|1.69	0.24217|0.24217	.|.	0.682217|.	0.12677|.	N|.	0.448313|.	T|T	0.35770|0.35770	0.0943|0.0943	N|N	0.17564|0.17564	0.495|0.495	0.37107|0.37107	D|D	0.900188|0.900188	B;B;B;B|.	0.10296|.	0.002;0.002;0.002;0.003|.	B;B;B;B|.	0.09377|.	0.002;0.002;0.002;0.004|.	T|T	0.19844|0.19844	-1.0293|-1.0293	10|5	0.27785|.	T|.	0.31|.	-4.8813|-4.8813	7.0351|7.0351	0.24989|0.24989	0.0:0.7298:0.0:0.2702|0.0:0.7298:0.0:0.2702	.|.	185;185;183;185|.	B0QYK4;B0QYK5;Q96A84;Q96A84-3|.	.;.;EMID1_HUMAN;.|.	V|S	185;185;185;185;157|31	ENSP00000335481:A185V;ENSP00000403816:A185V;ENSP00000385414:A185V;ENSP00000384452:A185V;ENSP00000399760:A157V|.	ENSP00000335481:A185V|.	A|P	+|+	2|1	0|0	EMID1|EMID1	27957097|27957097	0.948000|0.948000	0.32251|0.32251	0.999000|0.999000	0.59377|0.59377	0.026000|0.026000	0.11368|0.11368	2.095000|2.095000	0.41729|0.41729	0.622000|0.622000	0.30249|0.30249	0.585000|0.585000	0.79938|0.79938	GCC|CCC	EMID1	-	NULL	ENSG00000186998		0.617	EMID1-002	NOVEL	basic|appris_principal	protein_coding	EMID1	HGNC	protein_coding	OTTHUMT00000321075.1		0	47	0	C	NM_133455		29627097	1			no_errors	ENST00000334018	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	T	T	29627097	C	T	29627097	3	4	8	1	0	0	0	0	1	0	0	0	5107	739	26	3	576	3	EMID1	22	29627097	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	3563361	29627097	21677469	222	2394											
LIMK2	3985	genome.wustl.edu	37	chr22	31672776	31672776	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgcatctactttcagaGccccccccggggccgcagga	8	5	10	18	3	2	1	1	0	1	1	2	2	2	2	6	3	2	2	6	3	1	2	rs540206607	byFrequency	TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr22:31672776G>C	ENST00000331728.4	+	15	1886				LIMK2_ENST00000406516.1_Splice_Site_p.A514P|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000340552.4_Splice_Site_p.A571P|LIMK2_ENST00000333611.4_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TACTTTCAGAGCCCCCCCCGG	0.736																																																	0													8	9	9					22																	31672776		2174	4260	6434	SO:0001627	intron_variant	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1772+1482G>C	22.37:g.31672776G>C			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A571P	ENST00000331728.4	37	c.1711	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.843532	0.00568	.	.	ENSG00000182541	ENST00000406516;ENST00000340552	D;D	0.85629	-2.01;-2.01	0.0465	0.0465	0.14256	.	0.135022	0.51477	N	0.000098	T	0.43188	0.1236	N	0.00178	-1.915	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.06405	0.002;0.002	T	0.51973	-0.8637	10	0.02654	T	1	-5.9433	3.6497	0.08198	2.0E-4:0.4937:0.5059:2.0E-4	.	571;514	Q7L3H5;B5MC51	.;.	P	514;571	ENSP00000384602:A514P;ENSP00000339916:A571P	ENSP00000339916:A571P	A	+	1	0	LIMK2	30002776	0.993000	0.37304	0.031000	0.17742	0.032000	0.12392	0.882000	0.28186	0.132000	0.18615	0.134000	0.15878	GCC	LIMK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000182541		0.736	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1		0	48	0	G	NM_016733		31672776	1			no_errors	ENST00000340552	ensembl	human	putative	74_37	missense	10.34	26	3	SNP	0.995	C	C	31672776	G	C	31672776	1	2	8	0	1	0	0	0	0	0	0	0	8831	985	34	5		5	LIMK2	22	31672776	Intron	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	2045679	31672776	19631790	223	2395											
APOL3	80833	genome.wustl.edu	37	chr22	36537959	36537959	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcacgaagcttttctatGgactcctggatcttcctctt	7	14	9	11	1	3	0	0	0	3	0	5	3	5	2	2	3	1	2	2	3	2	5			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr22:36537959G>T	ENST00000349314.2	-	3	535	c.498C>A	c.(496-498)tcC>tcA	p.S166S	APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000397293.2_Silent_p.S95S|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000487423.1_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	166					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GCTTTTCTATGGACTCCTGGA	0.493																																																	0													129	118	122					22																	36537959		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.498C>A	22.37:g.36537959G>T			B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Silent	SNP	pfam_ApoL	p.S166	ENST00000349314.2	37	c.498	CCDS13922.1	22																																																																																			APOL3	-	pfam_ApoL	ENSG00000128284		0.493	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	-	0	45	0	G	NM_145641		36537959	-1	tier1	-	no_errors	ENST00000349314	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.026	T	T	36537959	G	T	36537959	2	4	8	1	0	0	0	0	0	0	0	1	807	1335	47	3		3	APOL3	22	36537959	Silent	SNP	G	TCGA-2H-A9GM-01A-11D-A37C-09	4865183	36537959	14766607	224	2396											
BAIAP2L2	80115	genome.wustl.edu	37	chr22	38481381	38481381	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggcaaaaggatttgtgcCcctgtaggaggagagagaga	13	7	16	5	0	0	2	0	0	0	2	0	7	0	5	2	4	1	2	2	4	3	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr22:38481381C>T	ENST00000381669.3	-	14	1660	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S	SLC16A8_ENST00000320521.5_5'Flank|SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	506					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					GGATTTGTGCCCCTGTAGGAG	0.612																																																	0													69	77	74					22																	38481381		2116	4220	6336	SO:0001630	splice_region_variant	0			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1515-1G>A	22.37:g.38481381C>T			B0QYE2|Q96BG7	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.G506S	ENST00000381669.3	37	c.1516	CCDS43018.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.17|13.17	2.157289|2.157289	0.38119|0.38119	.|.	.|.	ENSG00000128298|ENSG00000128298	ENST00000428572|ENST00000381669;ENST00000402500	T|T	0.42513|0.68479	0.97|-0.33	4.14|4.14	3.11|3.11	0.35812|0.35812	.|.	0.000000|0.000000	0.85682|0.85682	U|U	0.000000|0.000000	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.77387|0.77387	-0.2607|-0.2607	8|10	0.46703|0.87932	T|D	0.11|0	-6.8437|-6.8437	10.2006|10.2006	0.43082|0.43082	0.0:0.9043:0.0:0.0957|0.0:0.9043:0.0:0.0957	.|.	.|506	.|Q6UXY1	.|BI2L2_HUMAN	E|S	181|506;492	ENSP00000410074:G181E|ENSP00000371085:G506S	ENSP00000410074:G181E|ENSP00000371085:G506S	G|G	-|-	2|1	0|0	BAIAP2L2|BAIAP2L2	36811327|36811327	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.530000|0.530000	0.34684|0.34684	5.660000|5.660000	0.68018|0.68018	0.846000|0.846000	0.35142|0.35142	0.491000|0.491000	0.48974|0.48974	GGG|GGC	BAIAP2L2	-	NULL	ENSG00000128298		0.612	BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L2	HGNC	protein_coding	OTTHUMT00000321727.1	-	0	56	0	C	NM_025045	Missense_Mutation	38481381	-1	tier1	-	no_errors	ENST00000381669	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	38481381	C	T	38481381	5	4	8	1	0	0	0	0	0	0	1	0	1304	637	22	3	77	3	BAIAP2L2	22	38481381	Splice_Site	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	1943422	38481381	12823185	225	2397											
SUN2	25777	genome.wustl.edu	37	chr22	39132347	39132347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggccccagttagtcaggatCcgcagctccaccacctggta	8	8	10	15	1	1	0	1	0	0	0	3	1	3	1	6	3	1	4	6	3	2	2			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chr22:39132347C>T	ENST00000405510.1	-	19	2437	c.2079G>A	c.(2077-2079)cgG>cgA	p.R693R	SUN2_ENST00000406622.1_Silent_p.R693R|RP3-508I15.20_ENST00000609428.1_RNA|SUN2_ENST00000411587.2_Silent_p.R682R|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000405018.1_Silent_p.R714R|SUN2_ENST00000216064.4_Silent_p.R693R|RP3-508I15.19_ENST00000418803.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	693	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						TAGTCAGGATCCGCAGCTCCA	0.597																																																	0													90	73	79					22																	39132347		2203	4300	6503	SO:0001819	synonymous_variant	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.2079G>A	22.37:g.39132347C>T			B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.R693	ENST00000405510.1	37	c.2079	CCDS13978.1	22																																																																																			SUN2	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000100242		0.597	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1		0	37	0	C	XM_039332		39132347	-1			no_errors	ENST00000216064	ensembl	human	known	74_37	silent	8.33	22	2	SNP	0.987	T	T	39132347	C	T	39132347	2	4	8	1	0	0	0	0	0	0	0	1	15439	842	30	3		3	SUN2	22	39132347	Silent	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	650966	39132347	12172219	226	2398											
DMD	1756	genome.wustl.edu	37	chrX	32472939	32472939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccttcaaggcctcctttCtggcatagaccttccacaaa	9	11	5	16	0	2	1	1	0	1	1	5	1	5	1	5	2	0	1	5	2	3	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chrX:32472939C>T	ENST00000357033.4	-	26	3649	c.3443G>A	c.(3442-3444)aGa>aAa	p.R1148K	DMD_ENST00000378677.2_Missense_Mutation_p.R1144K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1148					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGCCTCCTTTCTGGCATAGAC	0.363																																																	0													99	87	91					X																	32472939		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3443G>A	X.37:g.32472939C>T	ENSP00000354923:p.Arg1148Lys		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R1148K	ENST00000357033.4	37	c.3443	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953260	0.18431	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.59638	0.25;0.25	5.25	3.11	0.35812	.	0.600320	0.13383	U	0.391966	T	0.24967	0.0606	N	0.02247	-0.625	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.12156	0.001;0.007;0.002	T	0.13980	-1.0489	10	0.06625	T	0.88	.	5.9327	0.19148	0.0:0.5389:0.0:0.4611	.	1140;1148;1144	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	K	1140;1144;1148;1148;1025	ENSP00000367948:R1144K;ENSP00000354923:R1148K	ENSP00000354923:R1148K	R	-	2	0	DMD	32382860	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.002000	0.63952	0.989000	0.38761	0.594000	0.82650	AGA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	39	0	C	NM_004006		32472939	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	76.92	9	30	SNP	1.000	T	T	32472939	C	T	32472939	3	4	8	1	0	0	0	0	1	0	0	0	4594	913	32	3	8073	3	DMD	23	32472939	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09		32472939	122797621	227	2399											
CXorf59	286464	genome.wustl.edu	37	chrX	36122690	36122690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtgcaaaatacaccaaaAgtcaatccttgttttgcatc	13	13	6	9	0	1	0	1	0	0	0	3	0	2	0	2	0	3	3	2	0	6	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chrX:36122690A>G	ENST00000313548.4	+	8	1113	c.927A>G	c.(925-927)aaA>aaG	p.K309K		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	309						integral component of membrane (GO:0016021)											ATACACCAAAAGTCAATCCTT	0.358																																																	0													125	104	111					X																	36122690		2202	4300	6502	SO:0001819	synonymous_variant	0			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.927A>G	X.37:g.36122690A>G				Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.K309	ENST00000313548.4	37	c.927	CCDS14238.1	X																																																																																			CHDC2	-	NULL	ENSG00000176034		0.358	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	HGNC	protein_coding		-	0	70	0	A	NM_173695		36122690	1	tier1	-	no_errors	ENST00000313548	ensembl	human	known	74_37	silent	71.70	15	38	SNP	0.004	G	G	36122690	A	G	36122690	2	3	8	1	0	0	0	0	0	0	0	1	4124	69	3	4		4	CXorf59	23	36122690	Silent	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	3649751	36122690	119147870	228	2400											
SHROOM4	57477	genome.wustl.edu	37	chrX	50377488	50377488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacaagggagccagaggCagagggttgctggttggcca	10	7	17	7	0	0	3	0	1	0	2	0	4	0	4	2	5	3	4	2	5	2	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chrX:50377488C>A	ENST00000289292.7	-	4	1868	c.1585G>T	c.(1585-1587)Gcc>Tcc	p.A529S	SHROOM4_ENST00000460112.3_Missense_Mutation_p.A413S|SHROOM4_ENST00000376020.2_Missense_Mutation_p.A529S			Q9ULL8	SHRM4_HUMAN	shroom family member 4	529					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GAGCCAGAGGCAGAGGGTTGC	0.552																																																	0													51	41	45					X																	50377488		2203	4300	6503	SO:0001583	missense	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1585G>T	X.37:g.50377488C>A	ENSP00000289292:p.Ala529Ser		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A529S	ENST00000289292.7	37	c.1585	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	2.401	-0.337542	0.05278	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15834	2.78;2.78;2.39	5.43	4.54	0.55810	.	0.896444	0.09577	N	0.783409	T	0.14184	0.0343	L	0.38838	1.175	0.31263	N	0.692645	B	0.27498	0.18	B	0.26517	0.07	T	0.15292	-1.0442	10	0.07813	T	0.8	.	12.2346	0.54508	0.0:0.833:0.167:0.0	.	529	Q9ULL8	SHRM4_HUMAN	S	529;529;413	ENSP00000289292:A529S;ENSP00000365188:A529S;ENSP00000421450:A413S	ENSP00000289292:A529S	A	-	1	0	SHROOM4	50394228	0.003000	0.15002	0.722000	0.30670	0.372000	0.29890	-0.019000	0.12546	1.228000	0.43614	0.600000	0.82982	GCC	SHROOM4	-	NULL	ENSG00000158352		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	-	0	35	0	C	NM_020717		50377488	-1	tier1	-	no_errors	ENST00000289292	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.895	A	A	50377488	C	A	50377488	3	1	8	1	0	0	0	0	1	0	0	0	14341	710	25	3	2920	3	SHROOM4	23	50377488	Missense_Mutation	SNP	C	TCGA-2H-A9GM-01A-11D-A37C-09	14254798	50377488	104893072	229	2401											
ZCCHC5	203430	genome.wustl.edu	37	chrX	77912710	77912710	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccctctgcagaggaacttTtccctaatggattgggatca	9	12	9	11	0	2	1	1	0	1	1	4	4	4	4	2	3	2	1	2	3	2	4			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chrX:77912710T>G	ENST00000321110.1	-	2	1503	c.1208A>C	c.(1207-1209)aAa>aCa	p.K403T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	403							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						AGAGGAACTTTTCCCTAATGG	0.512																																																	0													124	108	113					X																	77912710		2203	4300	6503	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.1208A>C	X.37:g.77912710T>G	ENSP00000316794:p.Lys403Thr		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.K403T	ENST00000321110.1	37	c.1208	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.348215	0.00219	.	.	ENSG00000179300	ENST00000321110	T	0.20463	2.07	2.7	-2.18	0.07037	.	0.815849	0.09727	U	0.763581	T	0.10852	0.0265	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.34279	-0.9835	10	0.25106	T	0.35	.	4.3992	0.11377	0.1372:0.0:0.2755:0.5874	.	403	Q8N8U3	ZCHC5_HUMAN	T	403	ENSP00000316794:K403T	ENSP00000316794:K403T	K	-	2	0	ZCCHC5	77799366	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.158000	0.10070	-0.691000	0.05135	-0.527000	0.04329	AAA	ZCCHC5	-	NULL	ENSG00000179300		0.512	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0	33	0	T	NM_152694		77912710	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	missense	55.56	16	20	SNP	0.000	G	G	77912710	T	G	77912710	3	3	8	1	0	0	0	0	1	0	0	0	17639	1841	64	4	223	4	ZCCHC5	23	77912710	Missense_Mutation	SNP	T	TCGA-2H-A9GM-01A-11D-A37C-09	27535222	77912710	77357850	230	2402											
HCFC1	3054	genome.wustl.edu	37	chrX	153222953	153222953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaggtcaccagcttcAggattgttcccgctggcagg	6	10	13	12	1	2	1	2	1	0	0	3	2	3	2	2	4	2	5	2	4	0	3			TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chrX:153222953A>G	ENST00000310441.7	-	13	3131	c.2165T>C	c.(2164-2166)cTg>cCg	p.L722P	HCFC1_ENST00000354233.3_Missense_Mutation_p.L653P|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.L722P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	722	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCAGCTTCAGGATTGTTCC	0.622																																																	0													69	70	69					X																	153222953		2089	4186	6275	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2165T>C	X.37:g.153222953A>G	ENSP00000309555:p.Leu722Pro		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.L722P	ENST00000310441.7	37	c.2165	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388791	0.82902	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03663	3.91;3.91;3.85	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.09512	0.0234	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.09164	-1.0687	10	0.87932	D	0	.	13.4654	0.61251	1.0:0.0:0.0:0.0	.	722	P51610	HCFC1_HUMAN	P	722;722;653	ENSP00000309555:L722P;ENSP00000359001:L722P;ENSP00000346174:L653P	ENSP00000309555:L722P	L	-	2	0	HCFC1	152876147	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.719000	0.91436	1.822000	0.53115	0.486000	0.48141	CTG	HCFC1	-	NULL	ENSG00000172534		0.622	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	-	0	50	0	A	NM_005334		153222953	-1	tier1	-	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	G	G	153222953	A	G	153222953	3	3	8	1	0	0	0	0	1	0	0	0	7018	188	7	4	3998	4	HCFC1	23	153222953	Missense_Mutation	SNP	A	TCGA-2H-A9GM-01A-11D-A37C-09	75310243	153222953	2047607	231	2403											
PCDH11Y	83259	genome.wustl.edu	37	chrY	4924899	4924899	+	Frame_Shift_Del	DEL	C	C	-																															cttcttaataatttcttcttCctcttctctctctcctcttc																										TCGA-2H-A9GM-01A-11D-A37C-09	TCGA-2H-A9GM-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a34b9ac2-6aea-403b-95a2-b8553832709f	4a408ed5-0855-434c-bb0e-55cd9b0f338b	g.chrY:4924899delC	ENST00000362095.5	+	1	769	c.35delC	c.(34-36)tccfs	p.S14fs	PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.S14fs|PCDH11Y_ENST00000333703.4_Intron	NM_032972.2	NP_116754.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	14					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATTTCTTCTTCCTCTTCTCTC	0.378																																																	0																																										SO:0001589	frameshift_variant	0			AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"Cadherins / Protocadherins : Non-clustered"	15813	protein-coding gene	gene with protein product		400022	"protocadherin 22"	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000362095.5:c.35delC	Y.37:g.4924899delC	ENSP00000355419:p.Ser14fs		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S13fs	ENST00000362095.5	37	c.35	CCDS14777.1	Y																																																																																			PCDH11Y	-	NULL	ENSG00000099715		0.378	PCDH11Y-003	KNOWN	basic|CCDS	protein_coding	PCDH11Y	HGNC	protein_coding	OTTHUMT00000084980.1		0	46	0	C	NM_032973		4924899	1	tier1		no_errors	ENST00000215473	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	0.001	-	-	4924899	C	-	4924899	7	5	8	1	0	1	0	1	0	0	0	0	11548	855	30	0	73	0	PCDH11Y	24	4924899	Frame_Shift_Del	DEL	C	TCGA-2H-A9GM-01A-11D-A37C-09		4924899	54448667	232	2404											
TNFRSF18	8784	genome.wustl.edu	37	chr1	1139264	1139264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgccccttctcctctgccGatcgctcgccccgctcttcc	1	10	7	23	5	3	0	0	0	3	0	7	1	4	0	8	0	1	2	8	0	0	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:1139264G>A	ENST00000379268.2	-	5	805	c.686C>T	c.(685-687)tCg>tTg	p.S229L	TNFRSF18_ENST00000486728.1_Missense_Mutation_p.S157L|TNFRSF18_ENST00000379265.5_Missense_Mutation_p.S222L|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.R159W	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	229					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCTCTGCCGATCGCTCGCC	0.726																																					GBM(157;472 1934 13810 14591 35952)												0													11	14	13					1																	1139264		2152	4243	6395	SO:0001583	missense	0			AF125304	CCDS9.1, CCDS10.1, CCDS30552.1	1p36.3	2011-08-11			ENSG00000186891	ENSG00000186891		"Tumor necrosis factor receptor superfamily", "CD molecules"	11914	protein-coding gene	gene with protein product		603905				9177197, 10037686	Standard	NM_004195		Approved	AITR, GITR, CD357	uc001add.3	Q9Y5U5	OTTHUMG00000001414	ENST00000379268.2:c.686C>T	1.37:g.1139264G>A	ENSP00000368570:p.Ser229Leu		B1AME1|O95851|Q5U0I4|Q9NYJ9	Missense_Mutation	SNP	prints_TNFR_18	p.R159W	ENST00000379268.2	37	c.475	CCDS10.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.058|0.058	-1.232438|-1.232438	0.01505|0.01505	.|.	.|.	ENSG00000186891|ENSG00000186891	ENST00000328596|ENST00000379268;ENST00000379265	T|T;T	0.30714|0.58358	1.52|0.71;0.34	3.33|3.33	-1.32|-1.32	0.09201|0.09201	.|.	.|.	.|.	.|.	.|.	T|T	0.34716|0.34716	0.0907|0.0907	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B	0.02656|0.02656	0.0|0.0;0.0	B|B;B	0.01281|0.01281	0.0|0.0;0.0	T|T	0.19582|0.19582	-1.0301|-1.0301	8|8	0.87932|0.26408	D|T	0|0.33	.|.	9.0398|9.0398	0.36311|0.36311	0.465:0.0:0.535:0.0|0.465:0.0:0.535:0.0	.|.	159|229;222	Q9Y5U5-2|Q9Y5U5;B1AME3	.|TNR18_HUMAN;.	W|L	159|229;222	ENSP00000328207:R159W|ENSP00000368570:S229L;ENSP00000368567:S222L	ENSP00000328207:R159W|ENSP00000368567:S222L	R|S	-|-	1|2	2|0	TNFRSF18|TNFRSF18	1129127|1129127	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.586000|-0.586000	0.05787|0.05787	-0.418000|-0.418000	0.07450|0.07450	-1.912000|-1.912000	0.00520|0.00520	CGG|TCG	TNFRSF18	-	NULL	ENSG00000186891		0.726	TNFRSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFRSF18	HGNC	protein_coding	OTTHUMT00000004083.2	-	0	22	0	G	NM_004195		1139264	-1	tier1	-	no_errors	ENST00000328596	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.000	A	A	1139264	G	A	1139264	3	1	9	1	0	0	0	0	1	0	0	0	16338	1059	37	1	296	1	TNFRSF18	1	1139264	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		1139264	248111357	1	2405											
NMNAT1	64802	genome.wustl.edu	37	chr1	10035755	10035755	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcatggcagaacttgctaCcaagaattctaaatgggtgg	13	10	10	8	0	2	2	1	0	1	2	2	2	2	2	1	3	3	2	1	3	6	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:10035755C>G	ENST00000377205.1	+	3	365	c.221C>G	c.(220-222)aCc>aGc	p.T74S	NMNAT1_ENST00000403197.1_Missense_Mutation_p.T74S	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	74					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		GAACTTGCTACCAAGAATTCT	0.433																																																	0													138	126	130					1																	10035755		2203	4300	6503	SO:0001583	missense	0			AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"nicotinamide nucleotide adenylyltransferase", "Leber congenital amaurosis 9", "Leber's congenital amaurosis 9"	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.221C>G	1.37:g.10035755C>G	ENSP00000366410:p.Thr74Ser		B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase	p.T74S	ENST00000377205.1	37	c.221	CCDS108.1	1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556163	0.45487	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97831	-4.56;-4.56	4.93	4.02	0.46733	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.056868	0.64402	D	0.000002	D	0.97111	0.9056	M	0.76574	2.34	0.53005	D	0.999963	P	0.41232	0.743	P	0.46543	0.52	D	0.95781	0.8817	10	0.20046	T	0.44	-9.2419	13.3952	0.60849	0.0:0.9238:0.0:0.0762	.	74	Q9HAN9	NMNA1_HUMAN	S	74	ENSP00000385131:T74S;ENSP00000366410:T74S	ENSP00000366410:T74S	T	+	2	0	NMNAT1	9958342	1.000000	0.71417	0.980000	0.43619	0.661000	0.39034	4.022000	0.57203	1.208000	0.43306	0.643000	0.83706	ACC	NMNAT1	-	pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase	ENSG00000173614		0.433	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT1	HGNC	protein_coding	OTTHUMT00000005029.1	-	0	79	0	C			10035755	1	tier1	-	no_errors	ENST00000377205	ensembl	human	known	74_37	missense	26.39	53	19	SNP	1.000	G	G	10035755	C	G	10035755	3	3	9	1	0	0	0	0	1	0	0	0	10537	507	18	5	227	5	NMNAT1	1	10035755	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	8896491	10035755	239214866	2	2406											
PRAMEF17	391004	genome.wustl.edu	37	chr1	13716931	13716931	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacagtggaggactatccaAggacgggagagcaccagccc	13	3	14	11	1	0	2	0	0	0	2	1	6	1	5	3	4	2	1	3	4	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:13716931A>C	ENST00000376098.4	+	2	444	c.418A>C	c.(418-420)Agg>Cgg	p.R140R		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	140					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTATCCAAGGACGGGAGA	0.537																																																	0													108	127	121					1																	13716931		2165	4255	6420	SO:0001819	synonymous_variant	0				CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"-"	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.418A>C	1.37:g.13716931A>C			B2RUU4	Silent	SNP	NULL	p.R140	ENST00000376098.4	37	c.418	CCDS41264.1	1																																																																																			PRAMEF17	-	NULL	ENSG00000204479		0.537	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF17	HGNC	protein_coding	OTTHUMT00000021780.2	-	0	334	0	A	NM_001099851		13716931	1	tier1	-	no_errors	ENST00000376098	ensembl	human	known	74_37	silent	27.97	170	66	SNP	0.000	C	C	13716931	A	C	13716931	2	2	9	1	0	0	0	0	0	0	0	1	12474	63	3	4		4	PRAMEF17	1	13716931	Silent	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	3681176	13716931	235533690	3	2407											
EPHA2	1969	genome.wustl.edu	37	chr1	16464434	16464434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgggcctccacggtgaagGtgtagttcatgtggggctcc	5	10	16	10	2	1	1	1	1	0	0	3	1	3	1	3	5	1	3	3	5	2	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:16464434G>T	ENST00000358432.5	-	5	1380	c.1226C>A	c.(1225-1227)aCc>aAc	p.T409N		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	409	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CACGGTGAAGGTGTAGTTCAT	0.637																																																	0													70	68	69					1																	16464434		2203	4300	6503	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1226C>A	1.37:g.16464434G>T	ENSP00000351209:p.Thr409Asn		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T409N	ENST00000358432.5	37	c.1226	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778039	0.90195	.	.	ENSG00000142627	ENST00000358432	T	0.57907	0.37	4.97	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000051	T	0.73385	0.3580	M	0.85777	2.775	0.80722	D	1	D;D	0.59357	0.985;0.982	P;P	0.62184	0.899;0.742	T	0.78760	-0.2078	10	0.87932	D	0	.	16.1088	0.81244	0.0:0.0:1.0:0.0	.	409;409	B5A968;P29317	.;EPHA2_HUMAN	N	409	ENSP00000351209:T409N	ENSP00000351209:T409N	T	-	2	0	EPHA2	16337021	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	5.616000	0.67709	2.488000	0.83962	0.561000	0.74099	ACC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0	75	0	G	NM_004431		16464434	-1	tier1	-	no_errors	ENST00000358432	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	16464434	G	T	16464434	3	4	9	1	0	0	0	0	1	0	0	0	5183	1261	44	3	1756	3	EPHA2	1	16464434	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2747503	16464434	232786187	4	2408											
UBR4	23352	genome.wustl.edu	37	chr1	19499498	19499498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagacctggacctttgagatCgcggcatcaagggtgtagat	10	9	14	8	2	1	3	1	1	0	3	2	6	1	4	2	3	0	2	2	3	2	2	rs374365470		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:19499498C>T	ENST00000375254.3	-	25	3408	c.3381G>A	c.(3379-3381)gcG>gcA	p.A1127A	UBR4_ENST00000375267.2_Silent_p.A1127A|UBR4_ENST00000375217.2_Silent_p.A1127A|UBR4_ENST00000375226.2_Silent_p.A1127A	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1127					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTTTGAGATCGCGGCATCAA	0.448																																																	0								G		1,4405		0,1,2202	87	79	82		3381	-5.2	0.7	1		82	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1127/5184	19499498	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3381G>A	1.37:g.19499498C>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.A1127	ENST00000375254.3	37	c.3381	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	53	0	C	NM_020765		19499498	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	silent	15.00	68	12	SNP	0.740	T	T	19499498	C	T	19499498	2	4	9	1	0	0	0	0	0	0	0	1	16953	871	31	1		1	UBR4	1	19499498	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	3035064	19499498	229751123	5	2409											
ZMYM6	9204	genome.wustl.edu	37	chr1	35452920	35452920	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgcatttatccaaaactGagttacagacactgatttaa	14	14	5	8	0	0	3	0	2	0	1	1	3	1	3	1	0	3	2	1	0	5	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:35452920G>C	ENST00000357182.4	-	16	3990	c.3763C>G	c.(3763-3765)Cag>Gag	p.Q1255E	RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron|ZMYM6NB_ENST00000373337.3_5'Flank	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1255					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ATCCAAAACTGAGTTACAGAC	0.343																																																	0													77	74	75					1																	35452920		1831	4092	5923	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3763C>G	1.37:g.35452920G>C	ENSP00000349708:p.Gln1255Glu		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.Q1255E	ENST00000357182.4	37	c.3763	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149399	0.37923	.	.	ENSG00000163867	ENST00000357182	T	0.17854	2.25	4.56	4.56	0.56223	Ribonuclease H-like (1);	0.059469	0.64402	D	0.000002	T	0.10852	0.0265	N	0.22421	0.69	0.80722	D	1	B	0.29862	0.259	B	0.30179	0.112	T	0.09509	-1.0671	10	0.09084	T	0.74	-7.0294	13.1425	0.59442	0.0:0.0:1.0:0.0	.	1255	O95789	ZMYM6_HUMAN	E	1255	ENSP00000349708:Q1255E	ENSP00000349708:Q1255E	Q	-	1	0	ZMYM6	35225507	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	1.073000	0.30691	2.820000	0.97059	0.650000	0.86243	CAG	ZMYM6	-	superfamily_RNaseH-like_dom	ENSG00000163867		0.343	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0	63	0	G	NM_007167		35452920	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	35452920	G	C	35452920	3	2	9	1	0	0	0	0	1	0	0	0	17752	1299	45	5	218	5	ZMYM6	1	35452920	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	15953422	35452920	213797701	6	2410											
RIMKLA	284716	genome.wustl.edu	37	chr1	42875740	42875740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgccctacctgttccaGaagtacgtgaaggagtccca	10	9	11	11	1	0	2	0	1	0	1	2	4	2	3	4	1	3	2	4	1	4	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:42875740G>T	ENST00000431473.3	+	4	696	c.567G>T	c.(565-567)caG>caT	p.Q189H		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	189	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACCTGTTCCAGAAGTACGTGA	0.512																																																	0													166	160	162					1																	42875740		2203	4300	6503	SO:0001583	missense	0			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.567G>T	1.37:g.42875740G>T	ENSP00000414330:p.Gln189His		Q5VUS5	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.Q189H	ENST00000431473.3	37	c.567	CCDS466.2	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787680	0.90367	.	.	ENSG00000177181	ENST00000410070;ENST00000431473	.	.	.	5.45	5.45	0.79879	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.86506	0.5949	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89852	0.4010	9	0.87932	D	0	-13.2234	16.7969	0.85604	0.0:0.0:1.0:0.0	.	189	Q8IXN7	RIMKA_HUMAN	H	65;189	.	ENSP00000387064:Q65H	Q	+	3	2	RIMKLA	42648327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.058000	0.64300	2.552000	0.86080	0.650000	0.86243	CAG	RIMKLA	-	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000177181		0.512	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLA	HGNC	protein_coding	OTTHUMT00000019174.3	-	0	65	0	G	NM_173642		42875740	1	tier1	-	no_errors	ENST00000431473	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	T	T	42875740	G	T	42875740	3	4	9	1	0	0	0	0	1	0	0	0	13410	933	33	3	581	3	RIMKLA	1	42875740	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	7422820	42875740	206374881	7	2411											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74819805	74819805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatgtttgatgtgggcttAtgaaaaaggtatatttttaa	13	16	10	2	0	0	2	0	2	0	0	0	3	0	2	0	2	0	3	0	2	6	7			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:74819805A>G	ENST00000370899.3	+	13	1509	c.1472A>G	c.(1471-1473)tAt>tGt	p.Y491C	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.Y491C|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.Y504C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.Y390C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.Y491C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		ATGTGGGCTTATGAAAAAGGT	0.378																																																	0													137	133	134					1																	74819805		2203	4300	6503	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1472A>G	1.37:g.74819805A>G	ENSP00000359936:p.Tyr491Cys			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y504C	ENST00000370899.3	37	c.1511		1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825944	0.71143	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.36524	0.0970	N	0.00377	-1.585	0.80722	D	1	P;D;D;D	0.89917	0.86;1.0;1.0;1.0	P;D;D;D	0.91635	0.829;0.999;0.999;0.998	T	0.69308	-0.5179	10	0.42905	T	0.14	.	15.086	0.72155	1.0:0.0:0.0:0.0	.	390;491;491;491	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	491;491;491;491;390	ENSP00000359936:Y491C;ENSP00000359932:Y491C;ENSP00000450895:Y491C;ENSP00000359928:Y491C;ENSP00000322251:Y390C	ENSP00000322251:Y390C	Y	+	2	0	RP11-653A5.2;AC093158.1	74592393	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.926000	0.75835	2.148000	0.66965	0.533000	0.62120	TAT	FPGT-TNNI3K	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000259030		0.378	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	-	0	44	0	A			74819805	1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	G	G	74819805	A	G	74819805	3	3	9	1	0	0	0	0	1	0	0	0	16376	449	16	4	1566	4	TNNI3K	1	74819805	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	31944065	74819805	174430816	8	2412											
ZNF326	284695	genome.wustl.edu	37	chr1	90486372	90486372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttactgtagatgatcacaTgatgaaggtagagacagttc	13	12	11	5	0	1	5	1	3	0	2	2	6	1	5	0	1	1	4	0	1	4	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:90486372T>C	ENST00000340281.4	+	10	1339	c.1196T>C	c.(1195-1197)aTg>aCg	p.M399T	ZNF326_ENST00000455342.2_Missense_Mutation_p.M193T|ZNF326_ENST00000370447.3_Missense_Mutation_p.M310T	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	399					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GATGATCACATGATGAAGGTA	0.333																																																	0													150	148	149					1																	90486372		2203	4300	6503	SO:0001583	missense	0			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1196T>C	1.37:g.90486372T>C	ENSP00000340796:p.Met399Thr		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.M399T	ENST00000340281.4	37	c.1196	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735407	0.69189	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.51817	0.69;0.69;0.69	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	M	0.66939	2.045	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.75020	0.985;0.985	T	0.65315	-0.6198	10	0.72032	D	0.01	-7.541	15.7684	0.78146	0.0:0.0:0.0:1.0	.	399;399	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	T	399;399;310;193	ENSP00000340796:M399T;ENSP00000359476:M310T;ENSP00000403470:M193T	ENSP00000340796:M399T	M	+	2	0	ZNF326	90258960	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.364000	0.73086	2.138000	0.66242	0.460000	0.39030	ATG	ZNF326	-	pfam_AKAP95	ENSG00000162664		0.333	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	-	0	56	0	T	NM_181781		90486372	1	tier1	-	no_errors	ENST00000340281	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C	C	90486372	T	C	90486372	3	2	9	1	0	0	0	0	1	0	0	0	17894	1464	51	4	1238	4	ZNF326	1	90486372	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	15666567	90486372	158764249	9	2413											
ZNF644	84146	genome.wustl.edu	37	chr1	91406698	91406698	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcttcaggcagagtcaaCgtattatttttctgaaatga	12	15	8	6	1	4	3	2	2	2	1	4	3	4	3	0	1	1	3	0	1	4	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:91406698C>T	ENST00000370440.1	-	3	430	c.213G>A	c.(211-213)acG>acA	p.T71T	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T71T|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T71T(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCAGAGTCAACGTATTATTTT	0.383																																																	1	Substitution - coding silent(1)	large_intestine(1)											156	150	152					1																	91406698		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.213G>A	1.37:g.91406698C>T			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T71	ENST00000370440.1	37	c.213	CCDS731.1	1																																																																																			ZNF644	-	NULL	ENSG00000122482		0.383	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0	55	0	C	NM_032186		91406698	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.473	T	T	91406698	C	T	91406698	2	4	9	1	0	0	0	0	0	0	0	1	18108	523	19	1		1	ZNF644	1	91406698	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	920326	91406698	157843923	10	2414											
IVL	3713	genome.wustl.edu	37	chr1	152882812	152882812	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacccggagcagcaggAggggcagctggagctcccag	10	2	17	12	1	0	0	0	0	0	0	1	4	1	3	2	5	5	6	2	5	1	0	rs111814755		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:152882812A>G	ENST00000368764.3	+	2	603	c.539A>G	c.(538-540)gAg>gGg	p.E180G	IVL_ENST00000392667.2_Missense_Mutation_p.E34G			P07476	INVO_HUMAN	involucrin	180	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gagcagcaggaggggcagctg	0.652																																																	0													13	14	14					1																	152882812		2200	4293	6493	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.539A>G	1.37:g.152882812A>G	ENSP00000357753:p.Glu180Gly		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.E180G	ENST00000368764.3	37	c.539	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294930	0.23564	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.12465	2.9;2.68	3.55	0.964	0.19655	.	.	.	.	.	T	0.07007	0.0178	L	0.59436	1.845	0.09310	N	1	D	0.53619	0.961	P	0.48552	0.581	T	0.17289	-1.0374	9	0.49607	T	0.09	.	3.986	0.09516	0.4395:0.1912:0.0:0.3693	.	180	P07476	INVO_HUMAN	G	180;34	ENSP00000357753:E180G;ENSP00000376435:E34G	ENSP00000357753:E180G	E	+	2	0	IVL	151149436	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.325000	0.19628	0.063000	0.16370	-0.842000	0.03052	GAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.652	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	118	0	A	NM_005547		152882812	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	27.73	86	33	SNP	0.003	G	G	152882812	A	G	152882812	3	3	9	1	0	0	0	0	1	0	0	0	7956	304	11	4	541	4	IVL	1	152882812	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	61476114	152882812	96367809	11	2415											
PKLR	5313	genome.wustl.edu	37	chr1	155260412	155260412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgtagccggagccaggtCgccagcctgtcaccacaatc	8	7	12	14	2	1	0	1	0	0	0	3	1	1	1	5	3	3	1	5	3	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:155260412C>T	ENST00000342741.4	-	11	1714	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q	PKLR_ENST00000392414.3_Missense_Mutation_p.R528Q	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	559	Allosteric activator binding.		R -> G (in PKRD).		ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGAGCCAGGTCGCCAGCCTGT	0.587																																																	0													71	56	61					1																	155260412		2203	4300	6503	SO:0001583	missense	0			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1676G>A	1.37:g.155260412C>T	ENSP00000339933:p.Arg559Gln		O75758|P11973	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.R559Q	ENST00000342741.4	37	c.1676	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	c	18.12	3.552284	0.65311	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99014	-5.33;-5.33	4.54	3.63	0.41609	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.176883	0.46442	N	0.000282	D	0.94561	0.8248	L	0.43757	1.38	0.48511	D	0.999663	B;B	0.31519	0.327;0.327	B;B	0.21360	0.034;0.034	D	0.94221	0.7467	10	0.28530	T	0.3	-5.7578	10.7042	0.45946	0.0:0.9053:0.0:0.0947	.	559;550	P30613;B1AVT1	KPYR_HUMAN;.	Q	584;528;559;473	ENSP00000376214:R528Q;ENSP00000339933:R559Q	ENSP00000271946:R473Q	R	-	2	0	PKLR	153527036	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.810000	0.69179	1.266000	0.44231	0.457000	0.33378	CGA	PKLR	-	pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase	ENSG00000143627		0.587	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2	-	0	55	0	C	NM_000298		155260412	-1	tier1	-	no_errors	ENST00000342741	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	T	T	155260412	C	T	155260412	3	4	9	1	0	0	0	0	1	0	0	0	12015	884	31	1	52	1	PKLR	1	155260412	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	2377600	155260412	93990209	12	2416											
PPOX	5498	genome.wustl.edu	37	chr1	161137901	161137901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacagttttgcccagcGccgccttggacctgaggtga	6	10	13	12	2	0	2	0	2	0	0	0	3	0	3	4	2	3	2	4	2	0	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:161137901G>A	ENST00000367999.4	+	5	721	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.R152H|PPOX_ENST00000432542.2_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	152			R -> C (in VP; strongly decreases enzyme activity). {ECO:0000269|PubMed:10486317, ECO:0000269|PubMed:11474578, ECO:0000269|PubMed:12859407, ECO:0000269|PubMed:9763307}.		heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TTTGCCCAGCGCCGCCTTGGA	0.597																																																	0													45	47	47					1																	161137901		2203	4300	6503	SO:0001583	missense	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.455G>A	1.37:g.161137901G>A	ENSP00000356978:p.Arg152His		D3DVG0|Q5VTW8	Missense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.R152H	ENST00000367999.4	37	c.455	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.032949	0.93575	.	.	ENSG00000143224	ENST00000352210;ENST00000367999	D;D	0.92699	-3.09;-3.09	5.69	5.69	0.88448	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97183	0.9852	10	0.59425	D	0.04	-5.7487	17.3153	0.87221	0.0:0.0:1.0:0.0	.	152	P50336	PPOX_HUMAN	H	152	ENSP00000343943:R152H;ENSP00000356978:R152H	ENSP00000343943:R152H	R	+	2	0	PPOX	159404525	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.917000	0.75782	2.679000	0.91253	0.650000	0.86243	CGC	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.597	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	-	0	55	0	G	NM_000309		161137901	1	tier1	-	no_errors	ENST00000352210	ensembl	human	known	74_37	missense	15.00	50	9	SNP	1.000	A	A	161137901	G	A	161137901	3	1	9	1	0	0	0	0	1	0	0	0	12390	1087	38	1	469	1	PPOX	1	161137901	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5877489	161137901	88112720	13	2417											
TNR	7143	genome.wustl.edu	37	chr1	175372725	175372725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaaagttgccgtggccaCtgcagtgagggatatagtcc	10	9	13	9	1	0	1	0	1	0	0	1	2	1	2	3	2	3	3	3	2	4	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:175372725C>T	ENST00000367674.2	-	4	1235	c.527G>A	c.(526-528)aGt>aAt	p.S176N	TNR_ENST00000263525.2_Missense_Mutation_p.S176N			Q92752	TENR_HUMAN	tenascin R	176	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCGTGGCCACTGCAGTGAGG	0.562																																																	0													73	76	75					1																	175372725		2203	4300	6503	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.527G>A	1.37:g.175372725C>T	ENSP00000356646:p.Ser176Asn		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.S176N	ENST00000367674.2	37	c.527	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767145	0.69878	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.21543	2.0;2.0	6.02	5.11	0.69529	.	0.047492	0.85682	D	0.000000	T	0.24236	0.0587	L	0.47016	1.485	0.48288	D	0.999629	P;P	0.48911	0.915;0.917	B;B	0.44278	0.395;0.445	T	0.01401	-1.1364	10	0.37606	T	0.19	.	15.2273	0.73361	0.0:0.9321:0.0:0.0679	.	176;176	B4DIX8;Q92752	.;TENR_HUMAN	N	176	ENSP00000356646:S176N;ENSP00000263525:S176N	ENSP00000263525:S176N	S	-	2	0	TNR	173639348	1.000000	0.71417	0.953000	0.39169	0.996000	0.88848	5.757000	0.68766	1.565000	0.49641	0.655000	0.94253	AGT	TNR	-	NULL	ENSG00000116147		0.562	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	52	0	C	NM_003285		175372725	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	175372725	C	T	175372725	3	4	9	1	0	0	0	0	1	0	0	0	16385	565	20	3	3629	3	TNR	1	175372725	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	14234824	175372725	73877896	14	2418											
KCNT2	343450	genome.wustl.edu	37	chr1	196459055	196459055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaaaaattgaacaggCgtatccttagacctttaaac	16	10	8	7	1	0	4	0	2	0	2	1	5	1	4	2	1	2	1	2	1	7	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:196459055C>T	ENST00000294725.9	-	3	1103	c.188G>A	c.(187-189)cGc>cAc	p.R63H	KCNT2_ENST00000367433.5_Missense_Mutation_p.R63H|KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.R63H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	63					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R63P(1)|p.R63H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289																																																	2	Substitution - Missense(2)	prostate(1)|lung(1)											90	97	94					1																	196459055		2203	4291	6494	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.188G>A	1.37:g.196459055C>T	ENSP00000294725:p.Arg63His		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.R63H	ENST00000294725.9	37	c.188	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785763	0.90282	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21361	2.01;2.04;2.27	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.51787	0.1695	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79784	0.978;0.993;0.954;0.978	T	0.54111	-0.8342	10	0.51188	T	0.08	-6.2909	17.1485	0.86772	0.0:1.0:0.0:0.0	.	63;63;63;63	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	63	ENSP00000356403:R63H;ENSP00000356401:R63H;ENSP00000294725:R63H	ENSP00000294725:R63H	R	-	2	0	KCNT2	194725678	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.744000	0.74854	2.723000	0.93209	0.655000	0.94253	CGC	KCNT2	-	NULL	ENSG00000162687		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2		0	35	0	C	NM_198503		196459055	-1			no_errors	ENST00000294725	ensembl	human	known	74_37	missense	5.41	34	2	SNP	1.000	T	T	196459055	C	T	196459055	3	4	9	1	0	0	0	0	1	0	0	0	8119	768	27	1	3323	1	KCNT2	1	196459055	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	21086330	196459055	52791566	15	2419											
FMOD	2331	genome.wustl.edu	37	chr1	203316579	203316579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagactgttgtgggacagccGcacatacagcagcttgggcg	9	8	14	10	2	0	1	0	0	0	1	0	2	0	2	1	2	4	4	1	2	2	4	rs200924838		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:203316579G>A	ENST00000354955.4	-	2	1283	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	274					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TGGGACAGCCGCACATACAGC	0.567																																																	0													126	122	124					1																	203316579		2203	4300	6503	SO:0001583	missense	0			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.820C>T	1.37:g.203316579G>A	ENSP00000347041:p.Arg274Trp		Q15331|Q8IV47	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.R274W	ENST00000354955.4	37	c.820	CCDS30976.1	1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152547	0.57259	.	.	ENSG00000122176	ENST00000435105;ENST00000354955	T	0.57752	0.38	5.18	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	L	0.55017	1.72	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.66646	-0.5871	10	0.87932	D	0	-19.4874	12.2014	0.54328	0.0:0.0:0.4307:0.5693	.	274	Q06828	FMOD_HUMAN	W	261;274	ENSP00000347041:R274W	ENSP00000347041:R274W	R	-	1	2	FMOD	201583202	0.098000	0.21812	1.000000	0.80357	0.997000	0.91878	0.178000	0.16820	0.512000	0.28257	0.655000	0.94253	CGG	FMOD	-	NULL	ENSG00000122176		0.567	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1	-	0	62	0	G	NM_002023		203316579	-1	tier1	rs200924838	no_errors	ENST00000354955	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.996	A	A	203316579	G	A	203316579	3	1	9	1	0	0	0	0	1	0	0	0	5981	1086	38	1	318	1	FMOD	1	203316579	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	6857524	203316579	45934042	16	2420											
SLC26A9	115019	genome.wustl.edu	37	chr1	205890954	205890954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcattctcaaagtcctgctGcagctcctgcagggagacag	9	8	11	13	1	1	1	1	0	1	1	4	2	3	1	2	1	4	5	2	1	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:205890954G>C	ENST00000367135.3	-	17	1908	c.1795C>G	c.(1795-1797)Cag>Gag	p.Q599E	SLC26A9_ENST00000340781.4_Missense_Mutation_p.Q599E|SLC26A9_ENST00000367134.2_Missense_Mutation_p.Q599E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	599	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGTCCTGCTGCAGCTCCTGC	0.612																																																	0													57	49	52					1																	205890954		2203	4299	6502	SO:0001583	missense	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1795C>G	1.37:g.205890954G>C	ENSP00000356103:p.Gln599Glu		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.Q599E	ENST00000367135.3	37	c.1795	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	G	7.601	0.672711	0.14776	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92495	-3.05;-3.01;-3.05	4.43	3.5	0.40072	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.412521	0.25792	N	0.028262	D	0.90861	0.7129	M	0.62723	1.935	0.41790	D	0.989866	P;P	0.48503	0.911;0.911	B;P	0.48770	0.301;0.589	D	0.88558	0.3121	10	0.06891	T	0.86	.	14.0292	0.64604	0.0:0.0:0.8471:0.1529	.	599;599	Q7LBE3;B1AVM8	S26A9_HUMAN;.	E	599	ENSP00000341682:Q599E;ENSP00000356103:Q599E;ENSP00000356102:Q599E	ENSP00000341682:Q599E	Q	-	1	0	SLC26A9	204157577	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.631000	0.83237	1.149000	0.42402	-0.182000	0.12963	CAG	SLC26A9	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000174502		0.612	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	-	0	44	0	G	NM_052934		205890954	-1	tier1	-	no_errors	ENST00000340781	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	C	C	205890954	G	C	205890954	3	2	9	1	0	0	0	0	1	0	0	0	14569	1328	46	5	896	5	SLC26A9	1	205890954	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2574375	205890954	43359667	17	2421											
RAB4A	5867	genome.wustl.edu	37	chr1	229433269	229433269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactaattggttaacagatGcccgaatgctagcgagccag	12	10	10	9	2	0	1	0	0	0	1	0	3	0	1	2	1	6	2	2	1	5	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr1:229433269G>T	ENST00000366690.4	+	5	539	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	111					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GTTAACAGATGCCCGAATGCT	0.398																																					Esophageal Squamous(11;250 603 9619 16563)												0													130	123	125					1																	229433269		2203	4300	6503	SO:0001583	missense	0			BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"RAB, member RAS oncogene"	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.331G>T	1.37:g.229433269G>T	ENSP00000355651:p.Ala111Ser		Q5T7P7|Q9BQ44	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A111S	ENST00000366690.4	37	c.331	CCDS31050.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.587030	0.96578	.	.	ENSG00000168118	ENST00000366690	T	0.77229	-1.08	5.48	5.48	0.80851	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88937	0.6573	M	0.81942	2.565	0.80722	D	1	D	0.57571	0.98	D	0.70227	0.968	D	0.89976	0.4097	10	0.87932	D	0	.	19.364	0.94454	0.0:0.0:1.0:0.0	.	106	P20338	RAB4A_HUMAN	S	111	ENSP00000355651:A111S	ENSP00000355651:A111S	A	+	1	0	RAB4A	227499892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.547000	0.85894	0.655000	0.94253	GCC	RAB4A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000168118		0.398	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4A	HGNC	protein_coding	OTTHUMT00000091727.3		0	39	0	G	NM_004578		229433269	1			no_errors	ENST00000366690	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	229433269	G	T	229433269	3	4	9	1	0	0	0	0	1	0	0	0	12991	1319	46	3	349	3	RAB4A	1	229433269	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	23542315	229433269	19817352	18	2422											
NCOA1	8648	genome.wustl.edu	37	chr2	24974968	24974968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagcaaactccacctgcctCcgggtatcagtcaccagaca	11	6	7	17	1	2	1	2	0	0	1	4	1	4	1	6	1	3	2	6	1	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:24974968C>T	ENST00000406961.1	+	20	4476	c.3824C>T	c.(3823-3825)tCc>tTc	p.S1275F	NCOA1_ENST00000348332.3_Missense_Mutation_p.S1275F|NCOA1_ENST00000288599.5_Missense_Mutation_p.S1275F|NCOA1_ENST00000407230.1_Missense_Mutation_p.S1124F|NCOA1_ENST00000395856.3_Missense_Mutation_p.S1275F|NCOA1_ENST00000538539.1_Missense_Mutation_p.S1275F|NCOA1_ENST00000405141.1_Missense_Mutation_p.S1275F			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1275					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTGCCTCCGGGTATCAG	0.522			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													66	63	64					2																	24974968		2203	4300	6503	SO:0001583	missense	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3824C>T	2.37:g.24974968C>T	ENSP00000385216:p.Ser1275Phe		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.S1275F	ENST00000406961.1	37	c.3824	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.090126	0.76756	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02301	4.48;4.48;4.35;4.48;4.48;4.48;4.48	5.28	5.28	0.74379	.	0.061358	0.64402	D	0.000003	T	0.03695	0.0105	N	0.24115	0.695	0.39244	D	0.9639	P;P;P;P;P	0.50943	0.875;0.924;0.94;0.924;0.875	B;P;P;P;B	0.47981	0.276;0.563;0.459;0.563;0.36	T	0.60444	-0.7262	10	0.42905	T	0.14	.	18.6754	0.91526	0.0:1.0:0.0:0.0	.	1275;1275;1275;1275;1124	A8K1V4;Q15788-3;Q15788;Q15788-2;B5MCN7	.;.;NCOA1_HUMAN;.;.	F	1275;1275;1124;1275;1275;1275;1275	ENSP00000385216:S1275F;ENSP00000385097:S1275F;ENSP00000385195:S1124F;ENSP00000444039:S1275F;ENSP00000320940:S1275F;ENSP00000288599:S1275F;ENSP00000379197:S1275F	ENSP00000288599:S1275F	S	+	2	0	NCOA1	24828472	0.995000	0.38212	0.978000	0.43139	0.854000	0.48673	6.537000	0.73847	2.740000	0.93945	0.585000	0.79938	TCC	NCOA1	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.522	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	-	0	45	0	C	NM_147223		24974968	1	tier1	-	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	38.46	40	25	SNP	0.990	T	T	24974968	C	T	24974968	3	4	9	1	0	0	0	0	1	0	0	0	10267	855	30	3	3886	3	NCOA1	2	24974968	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		24974968	218224405	19	2423											
OTOF	9381	genome.wustl.edu	37	chr2	26703132	26703132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgatcattgaggcctcCaggaaggctccaaagagaaa	13	6	12	10	2	1	2	1	1	0	1	4	5	3	3	3	4	0	1	3	4	3	1	rs558573899		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:26703132C>T	ENST00000272371.2	-	16	1977	c.1851G>A	c.(1849-1851)ctG>ctA	p.L617L	OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000339598.3_5'Flank|OTOF_ENST00000403946.3_Silent_p.L617L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	617					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGAGGCCTCCAGGAAGGCTC	0.562																																					GBM(102;732 1451 20652 24062 31372)												0													93	93	93					2																	26703132		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1851G>A	2.37:g.26703132C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L617	ENST00000272371.2	37	c.1851	CCDS1725.1	2																																																																																			OTOF	-	NULL	ENSG00000115155		0.562	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	60	0	C			26703132	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	silent	9.78	83	9	SNP	1.000	T	T	26703132	C	T	26703132	2	4	9	1	0	0	0	0	0	0	0	1	11342	581	21	3		3	OTOF	2	26703132	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	1728164	26703132	216496241	20	2424											
LTBP1	4052	genome.wustl.edu	37	chr2	33482427	33482427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgcaggccaatccatcaCcatgtaggtaaaggacctgt	13	7	10	11	1	1	1	1	0	0	1	2	2	2	2	4	3	0	3	4	3	4	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:33482427C>G	ENST00000404816.2	+	12	2597	c.2244C>G	c.(2242-2244)caC>caG	p.H748Q	LTBP1_ENST00000407925.1_Missense_Mutation_p.H422Q|LTBP1_ENST00000418533.2_Missense_Mutation_p.H422Q|LTBP1_ENST00000402934.1_Intron|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.H748Q|LTBP1_ENST00000390003.4_Missense_Mutation_p.H422Q			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	748					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAATCCATCACCATGTAGGTA	0.463																																																	0													118	103	108					2																	33482427		2203	4300	6503	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2244C>G	2.37:g.33482427C>G	ENSP00000386043:p.His748Gln		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.H748Q	ENST00000404816.2	37	c.2244	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650332	0.29336	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000407925;ENST00000468091	T;T;T;T;T;T	0.79653	-1.29;-1.27;-1.23;-1.19;-1.2;0.42	5.91	5.01	0.66863	.	.	.	.	.	T	0.70928	0.3280	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.12013	0.0;0.001;0.001;0.005	B;B;B;B	0.09377	0.001;0.003;0.003;0.004	T	0.64711	-0.6343	9	0.25106	T	0.35	.	15.1096	0.72346	0.0:0.8541:0.1459:0.0	.	422;422;422;748	E7EV71;Q14766-2;Q14766-5;Q14766-4	.;.;.;.	Q	748;748;422;422;422;65	ENSP00000386043:H748Q;ENSP00000346467:H748Q;ENSP00000374653:H422Q;ENSP00000393057:H422Q;ENSP00000384091:H422Q;ENSP00000417591:H65Q	ENSP00000346467:H748Q	H	+	3	2	LTBP1	33335931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.803000	0.55560	1.459000	0.47892	0.655000	0.94253	CAC	LTBP1	-	NULL	ENSG00000049323		0.463	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	88	0	C	NM_206943		33482427	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	51.76	41	44	SNP	1.000	G	G	33482427	C	G	33482427	3	3	9	1	0	0	0	0	1	0	0	0	9108	506	18	5	2345	5	LTBP1	2	33482427	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	6779295	33482427	209716946	21	2425											
FAM178B	51252	genome.wustl.edu	37	chr2	97595017	97595017	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtggaatgcctccctGacttcttgcagtgaggggca	7	10	14	10	0	1	2	0	2	1	0	2	3	2	3	2	4	2	3	2	4	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:97595017G>T	ENST00000417561.3	-	13	1562	c.1563C>A	c.(1561-1563)gtC>gtA	p.V521V	FAM178B_ENST00000327896.3_Silent_p.V341V|FAM178B_ENST00000490605.2_Silent_p.V373V			Q8IXR5	F178B_HUMAN	family with sequence similarity 178, member B	521										large_intestine(1)|ovary(1)	2						ATGCCTCCCTGACTTCTTGCA	0.597																																																	0													57	56	56					2																	97595017		692	1591	2283	SO:0001819	synonymous_variant	0			AF151068, BC039488	CCDS33252.1, CCDS46366.1, CCDS46366.2	2q11.2	2008-08-08			ENSG00000168754	ENSG00000168754			28036	protein-coding gene	gene with protein product						11042152	Standard	NM_001122646		Approved	LOC51252	uc002sxl.4	Q8IXR5	OTTHUMG00000155257	ENST00000417561.3:c.1563C>A	2.37:g.97595017G>T			A8MXN2|E9PD86|Q8IUY0|Q9P0P4	Silent	SNP	NULL	p.V521	ENST00000417561.3	37	c.1563		2																																																																																			FAM178B	-	NULL	ENSG00000168754		0.597	FAM178B-202	KNOWN	basic	protein_coding	FAM178B	HGNC	protein_coding			0	76	0	G	NM_016490		97595017	-1			no_errors	ENST00000417561	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.359	T	T	97595017	G	T	97595017	2	4	9	1	0	0	0	0	0	0	0	1	5523	1277	45	3		3	FAM178B	2	97595017	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	64112590	97595017	145604356	22	2426											
SLC35F5	80255	genome.wustl.edu	37	chr2	114475412	114475412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagactctcacactgttcGctgtcttctggaactcttaa	9	14	7	11	1	4	1	1	1	4	1	6	3	4	2	0	1	1	2	0	1	2	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:114475412G>C	ENST00000245680.2	-	15	1925	c.1512C>G	c.(1510-1512)agC>agG	p.S504R	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	504					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CACACTGTTCGCTGTCTTCTG	0.418																																																	0													110	100	103					2																	114475412		2203	4300	6503	SO:0001583	missense	0			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1512C>G	2.37:g.114475412G>C	ENSP00000245680:p.Ser504Arg		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	pfam_DMT	p.S504R	ENST00000245680.2	37	c.1512	CCDS2119.1	2	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439434	0.25900	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000420066	T;T	0.45668	0.89;0.89	4.74	-0.489	0.12052	.	0.162143	0.53938	D	0.000060	T	0.25606	0.0623	L	0.29908	0.895	0.80722	D	1	P	0.46621	0.881	B	0.39738	0.308	T	0.02625	-1.1132	10	0.36615	T	0.2	-13.0643	9.0303	0.36254	0.742:0.0:0.258:0.0	.	504	Q8WV83	S35F5_HUMAN	R	504;498;35	ENSP00000245680:S504R;ENSP00000386754:S498R	ENSP00000245680:S504R	S	-	3	2	SLC35F5	114191882	0.983000	0.35010	0.997000	0.53966	0.998000	0.95712	0.294000	0.19047	-0.229000	0.09854	0.591000	0.81541	AGC	SLC35F5	-	NULL	ENSG00000115084		0.418	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	HGNC	protein_coding	OTTHUMT00000254150.1	-	0	30	0	G	NM_025181		114475412	-1	tier1	-	no_errors	ENST00000245680	ensembl	human	known	74_37	missense	42.42	19	14	SNP	0.998	C	C	114475412	G	C	114475412	3	2	9	1	0	0	0	0	1	0	0	0	14637	1078	38	5	63	5	SLC35F5	2	114475412	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	16880395	114475412	128723961	23	2427											
POTEE	445582	genome.wustl.edu	37	chr2	132021884	132021884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtcatcaccatcggcaaCgagcggttccgctgccccga	8	6	11	16	5	2	0	2	0	0	0	4	2	3	0	4	3	3	3	4	3	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:132021884C>T	ENST00000356920.5	+	15	2950	c.2856C>T	c.(2854-2856)aaC>aaT	p.N952N	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	952	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCATCGGCAACGAGCGGTTCC	0.602																																																	0																																										SO:0001819	synonymous_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2856C>T	2.37:g.132021884C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.N952	ENST00000356920.5	37	c.2856	CCDS46414.1	2																																																																																			POTEE	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000188219		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0	157	0	C	NM_001083538		132021884	1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	silent	22.60	113	33	SNP	1.000	T	T	132021884	C	T	132021884	2	4	9	1	0	0	0	0	0	0	0	1	12303	535	19	1		1	POTEE	2	132021884	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	17546472	132021884	111177489	24	2428											
CCDC74A	90557	genome.wustl.edu	37	chr2	132290352	132290352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaacctcctgcagacccaaGaggtgaggccctgggtggtg	8	6	14	13	0	0	3	0	1	0	2	1	3	1	3	5	4	2	1	5	4	2	0	rs376130814		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:132290352G>C	ENST00000295171.6	+	5	1012	c.874G>C	c.(874-876)Gag>Cag	p.E292Q	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E226Q	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	292										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGACCCAAGAGGTGAGGCC	0.652																																																	0								G	GLN/GLU	0,4404		0,0,2202	32	35	34		874	2.7	1	2		34	2,8588		0,2,4293	no	missense	CCDC74A	NM_138770.1	29	0,2,6495	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging	292/379	132290352	2,12992	2202	4295	6497	SO:0001583	missense	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.874G>C	2.37:g.132290352G>C	ENSP00000295171:p.Glu292Gln		Q6P4I5	Missense_Mutation	SNP	NULL	p.E292Q	ENST00000295171.6	37	c.874	CCDS2167.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.21|14.21	2.466460|2.466460	0.43839|0.43839	0.0|0.0	2.33E-4|2.33E-4	ENSG00000163040|ENSG00000163040	ENST00000295171;ENST00000409856|ENST00000434330	T;T|T	0.53206|0.55930	0.63;0.63|0.49	2.66|2.66	2.66|2.66	0.31614|0.31614	.|.	0.000000|.	0.36854|.	U|.	0.002376|.	T|T	0.60818|0.60818	0.2298|0.2298	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.968|.	D;D|.	0.80764|.	0.994;0.969|.	T|T	0.61710|0.61710	-0.7007|-0.7007	10|7	0.87932|0.51188	D|T	0|0.08	.|.	9.0698|9.0698	0.36486|0.36486	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	226;292|.	Q96AQ1-2;Q96AQ1|.	.;CC74A_HUMAN|.	Q|N	292;226|180	ENSP00000295171:E292Q;ENSP00000387009:E226Q|ENSP00000406839:K180N	ENSP00000295171:E292Q|ENSP00000406839:K180N	E|K	+|+	1|3	0|2	CCDC74A|CCDC74A	132006822|132006822	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.289000|0.289000	0.27227|0.27227	4.189000|4.189000	0.58358|0.58358	1.192000|1.192000	0.43071|0.43071	0.194000|0.194000	0.17425|0.17425	GAG|AAG	CCDC74A	-	NULL	ENSG00000163040		0.652	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	-	0	125	0	G	NM_138770		132290352	1	tier1	-	no_errors	ENST00000295171	ensembl	human	known	74_37	missense	37.86	87	53	SNP	1.000	C	C	132290352	G	C	132290352	3	2	9	1	0	0	0	0	1	0	0	0	2854	943	33	5	892	5	CCDC74A	2	132290352	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	268468	132290352	110909021	25	2429											
SCN2A	6326	genome.wustl.edu	37	chr2	166245328	166245328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcttttcctggtcaTgttcatctacgccatctttg	4	18	5	14	1	5	0	2	0	3	0	7	0	7	0	4	1	1	1	4	1	1	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:166245328T>C	ENST00000375437.2	+	27	5302	c.5012T>C	c.(5011-5013)aTg>aCg	p.M1671T	SCN2A_ENST00000283256.6_Missense_Mutation_p.M1671T|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1671T|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1671T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1671					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCCTGGTCATGTTCATCTAC	0.473																																																	0													184	173	177					2																	166245328		2203	4300	6503	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5012T>C	2.37:g.166245328T>C	ENSP00000364586:p.Met1671Thr		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.M1671T	ENST00000375437.2	37	c.5012	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992545	0.54041	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.38	5.38	0.77491	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	M	0.91038	3.17	0.80722	D	1	D;P	0.76494	0.999;0.862	D;P	0.73708	0.981;0.566	D	0.99486	1.0949	10	0.87932	D	0	.	15.7225	0.77724	0.0:0.0:0.0:1.0	.	1671;1671	Q99250-2;Q99250	.;SCN2A_HUMAN	T	1671	ENSP00000364586:M1671T;ENSP00000349973:M1671T;ENSP00000283256:M1671T;ENSP00000364576:M1671T	ENSP00000283256:M1671T	M	+	2	0	SCN2A	165953574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.994000	0.88315	2.173000	0.68751	0.451000	0.29950	ATG	SCN2A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000136531		0.473	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	144	0	T	NM_021007		166245328	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	35.71	90	50	SNP	1.000	C	C	166245328	T	C	166245328	3	2	9	1	0	0	0	0	1	0	0	0	13961	1464	51	4	5210	4	SCN2A	2	166245328	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	33954976	166245328	76954045	26	2430											
TTN	7273	genome.wustl.edu	37	chr2	179598557	179598557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcacagcagcttgcaGggtaacggtttgtcctccta	7	11	9	14	1	1	0	1	0	1	0	4	0	3	0	3	2	4	5	3	2	2	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:179598557G>T	ENST00000591111.1	-	51	14832	c.14608C>A	c.(14608-14610)Ctg>Atg	p.L4870M	TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L3943M|TTN_ENST00000589042.1_Missense_Mutation_p.L5187M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12252	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L3943M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGCTTGCAGGGTAACGGTT	0.408																																																	1	Substitution - Missense(1)	lung(1)											123	118	119					2																	179598557		1939	4144	6083	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14608C>A	2.37:g.179598557G>T	ENSP00000465570:p.Leu4870Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L3943M	ENST00000591111.1	37	c.11827		2	.	.	.	.	.	.	.	.	.	.	G	10.68	1.419087	0.25552	.	.	ENSG00000155657	ENST00000342992	T	0.74842	-0.88	5.99	3.64	0.41730	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.70527	0.3234	M	0.64260	1.97	0.80722	D	1	P	0.47604	0.898	P	0.45167	0.472	T	0.69079	-0.5240	9	0.87932	D	0	.	5.2814	0.15678	0.7285:0.0:0.1415:0.13	.	4870	Q8WZ42	TITIN_HUMAN	M	3943	ENSP00000343764:L3943M	ENSP00000343764:L3943M	L	-	1	2	TTN	179306802	1.000000	0.71417	0.990000	0.47175	0.894000	0.52154	3.275000	0.51639	0.515000	0.28320	-0.302000	0.09304	CTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	52	0	G	NM_133378		179598557	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.977	T	T	179598557	G	T	179598557	3	4	9	1	0	0	0	0	1	0	0	0	16784	991	35	3	89210	3	TTN	2	179598557	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	13353229	179598557	63600816	27	2431											
ITGA4	3676	genome.wustl.edu	37	chr2	182363438	182363438	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatggaacttctgacgtGattacaggaagcatacaggt	13	11	10	7	1	2	2	0	2	2	0	2	4	2	4	0	3	4	1	0	3	5	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:182363438G>T	ENST00000397033.2	+	15	2059	c.1629G>T	c.(1627-1629)gtG>gtT	p.V543V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	543					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CTTCTGACGTGATTACAGGAA	0.358																																																	0													98	95	96					2																	182363438		2009	4179	6188	SO:0001819	synonymous_variant	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1629G>T	2.37:g.182363438G>T			D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V543	ENST00000397033.2	37	c.1629	CCDS42788.1	2																																																																																			ITGA4	-	pfam_Integrin_alpha-2	ENSG00000115232		0.358	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	-	0	52	0	G			182363438	1	tier1	-	no_errors	ENST00000397033	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.367	T	T	182363438	G	T	182363438	2	4	9	1	0	0	0	0	0	0	0	1	7905	1277	45	3		3	ITGA4	2	182363438	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2764881	182363438	60835935	28	2432											
ACADL	33	genome.wustl.edu	37	chr2	211085455	211085455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctggagaaaagattcttCgaattcctatatctgttaat	12	15	7	7	1	3	2	0	0	3	2	5	4	4	2	1	1	0	2	1	1	6	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:211085455C>T	ENST00000233710.3	-	2	376	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	50					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)	p.R50Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		AAAGATTCTTCGAATTCCTAT	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											82	85	84					2																	211085455		2203	4300	6503	SO:0001583	missense	0			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.149G>A	2.37:g.211085455C>T	ENSP00000233710:p.Arg50Gln		B2R8T3|Q8IUN8	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.R50Q	ENST00000233710.3	37	c.149	CCDS2389.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.547013	0.96488	.	.	ENSG00000115361	ENST00000233710	D	0.98889	-5.21	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase (1);	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99937	1.1373	10	0.87932	D	0	.	19.821	0.96592	0.0:1.0:0.0:0.0	.	50	P28330	ACADL_HUMAN	Q	50	ENSP00000233710:R50Q	ENSP00000233710:R50Q	R	-	2	0	ACADL	210793700	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.761000	0.74945	2.683000	0.91414	0.655000	0.94253	CGA	ACADL	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000115361		0.353	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2	-	0	48	0	C	NM_001608		211085455	-1	tier1	-	no_errors	ENST00000233710	ensembl	human	known	74_37	missense	82.61	8	38	SNP	1.000	T	T	211085455	C	T	211085455	3	4	9	1	0	0	0	0	1	0	0	0	112	884	31	1	1183	1	ACADL	2	211085455	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	28722017	211085455	32113918	29	2433											
CXCR2	3579	genome.wustl.edu	37	chr2	219000352	219000352	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgctggcagacaccctCatgaggacccaggtgatcca	9	7	11	14	0	1	3	1	2	0	1	3	4	3	4	4	3	1	2	4	3	0	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:219000352C>A	ENST00000318507.2	+	3	1255	c.828C>A	c.(826-828)ctC>ctA	p.L276L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	276					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CAGACACCCTCATGAGGACCC	0.612																																																	0													85	83	84					2																	219000352		2203	4300	6503	SO:0001819	synonymous_variant	0			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.828C>A	2.37:g.219000352C>A			Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.L276	ENST00000318507.2	37	c.828	CCDS2408.1	2																																																																																			CXCR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2	ENSG00000180871		0.612	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2	-	0	32	0	C	NM_001557		219000352	1	tier1	-	no_errors	ENST00000318507	ensembl	human	known	74_37	silent	15.07	62	11	SNP	0.994	A	A	219000352	C	A	219000352	2	1	9	1	0	0	0	0	0	0	0	1	4100	813	29	3		3	CXCR2	2	219000352	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	7914897	219000352	24199021	30	2434											
CAB39	51719	genome.wustl.edu	37	chr2	231657972	231657972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaatattctcagaagAcaaattggtacgagaactcc	16	10	6	9	1	2	3	2	0	1	3	4	4	3	3	1	1	3	1	1	1	7	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:231657972A>G	ENST00000258418.5	+	4	753	c.324A>G	c.(322-324)agA>agG	p.R108R	CAB39_ENST00000410084.3_Silent_p.R108R|CAB39_ENST00000409788.3_Silent_p.R108R	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	108					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTCTCAGAAGACAAATTGGTA	0.323																																																	0													124	122	123					2																	231657972		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.324A>G	2.37:g.231657972A>G			A8K8L7	Silent	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.R108	ENST00000258418.5	37	c.324	CCDS2478.1	2																																																																																			CAB39	-	pfam_Mo25,superfamily_ARM-type_fold	ENSG00000135932		0.323	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	HGNC	protein_coding	OTTHUMT00000256955.2	-	0	57	0	A	NM_016289		231657972	1	tier1	-	no_errors	ENST00000258418	ensembl	human	known	74_37	silent	22.39	52	15	SNP	1.000	G	G	231657972	A	G	231657972	2	3	9	1	0	0	0	0	0	0	0	1	2532	272	10	4		4	CAB39	2	231657972	Silent	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	12657620	231657972	11541401	31	2435											
ESPNL	339768	genome.wustl.edu	37	chr2	239025586	239025586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacgtggacccctccctgCgggatgaagatggttacacg	9	7	12	13	3	0	2	0	1	0	1	1	4	1	4	4	3	2	1	4	3	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:239025586C>T	ENST00000343063.3	+	5	1161	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	ESPNL_ENST00000409169.1_Intron	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	300										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCCCTCCCTGCGGGATGAAGA	0.647																																																	0													82	72	75					2																	239025586		2202	4299	6501	SO:0001583	missense	0			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.898C>T	2.37:g.239025586C>T	ENSP00000339115:p.Arg300Trp		Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R300W	ENST00000343063.3	37	c.898	CCDS2525.1	2	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505060	0.64410	.	.	ENSG00000144488	ENST00000343063	T	0.68903	-0.36	5.48	3.64	0.41730	Ankyrin repeat-containing domain (4);	0.622819	0.14220	N	0.333506	T	0.80221	0.4583	M	0.79123	2.44	0.32919	D	0.515531	D	0.76494	0.999	D	0.65773	0.938	D	0.83377	0.0010	10	0.72032	D	0.01	-35.7073	12.2925	0.54827	0.3072:0.6928:0.0:0.0	.	300	Q6ZVH7	ESPNL_HUMAN	W	300	ENSP00000339115:R300W	ENSP00000339115:R300W	R	+	1	2	ESPNL	238690325	0.000000	0.05858	1.000000	0.80357	0.777000	0.43975	-0.035000	0.12205	0.647000	0.30713	0.460000	0.39030	CGG	ESPNL	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144488		0.647	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	HGNC	protein_coding	OTTHUMT00000257164.2		0	68	0	C	NM_194312		239025586	1			no_errors	ENST00000343063	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.600	T	T	239025586	C	T	239025586	3	4	9	1	0	0	0	0	1	0	0	0	5271	759	27	1	916	1	ESPNL	2	239025586	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	7367614	239025586	4173787	32	2436											
PER2	8864	genome.wustl.edu	37	chr2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggttgtgttcagattttgCcatcatcaggctaaaggtat	9	15	11	6	0	3	1	3	0	0	1	3	1	3	1	1	3	1	4	1	3	3	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383																																																	1	Substitution - Missense(1)	urinary_tract(1)											227	239	235					2																	239185809		2203	4300	6503	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.256G>A	2.37:g.239185809C>T	ENSP00000254657:p.Ala86Thr		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.A86T	ENST00000254657.3	37	c.256	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	C	0.421	-0.908299	0.02434	.	.	ENSG00000132326	ENST00000254657;ENST00000254658;ENST00000440245;ENST00000355768;ENST00000431832	T;T;T;T;T	0.53423	2.72;0.68;1.71;0.68;0.62	4.96	2.12	0.27331	.	0.345872	0.34110	N	0.004259	T	0.34308	0.0893	L	0.34521	1.04	0.20074	N	0.999938	B;B;B;B	0.10296	0.003;0.0;0.001;0.0	B;B;B;B	0.12837	0.008;0.001;0.005;0.001	T	0.18053	-1.0349	10	0.31617	T	0.26	-1.2378	11.0032	0.47618	0.0:0.7639:0.0:0.2361	.	86;86;86;86	F5GYD5;B4DH14;O15055-2;O15055	.;.;.;PER2_HUMAN	T	86	ENSP00000254657:A86T;ENSP00000254658:A86T;ENSP00000397516:A86T;ENSP00000348013:A86T;ENSP00000405891:A86T	ENSP00000254657:A86T	A	-	1	0	PER2	238850548	0.693000	0.27728	0.002000	0.10522	0.041000	0.13682	0.717000	0.25851	-0.004000	0.14419	-0.797000	0.03246	GCA	PER2	-	NULL	ENSG00000132326		0.383	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	-	0	65	0	C	NM_022817		239185809	-1	tier1	-	no_errors	ENST00000254657	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.323	T	T	239185809	C	T	239185809	3	4	9	1	0	0	0	0	1	0	0	0	11769	739	26	3	3595	3	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	160223	239185809	4013564	33	2437											
KIF1A	547	genome.wustl.edu	37	chr2	241725750	241725750	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgagtccctccacccAcctggccttgttccctgagt	5	11	8	17	0	0	2	0	2	0	0	4	2	4	2	7	1	0	1	7	1	0	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr2:241725750A>C	ENST00000320389.7	-	6	767		c.e6+1		KIF1A_ENST00000498729.2_Splice_Site	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCTCCACCCACCTGGCCTTG	0.637																																																	0													87	92	91					2																	241725750		2104	4234	6338	SO:0001630	splice_region_variant	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.608+1T>G	2.37:g.241725750A>C			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Splice_Site	SNP	-	e5+2	ENST00000320389.7	37	c.608+2	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	A	5.716	0.316603	0.10845	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283;ENST00000428768	.	.	.	4.43	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.673	0.40023	0.9165:0.0:0.0835:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF1A	241374423	1.000000	0.71417	0.585000	0.28666	0.000000	0.00434	7.189000	0.77747	0.576000	0.29452	-0.395000	0.06472	.	KIF1A	-	-	ENSG00000130294		0.637	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0	62	0	A	NM_138483	Intron	241725750	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	splice_site	7.94	58	5	SNP	0.992	C	C	241725750	A	C	241725750	5	2	9	1	0	0	0	0	0	0	1	0	8310	173	6	4	4630	4	KIF1A	2	241725750	Splice_Site	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	2539941	241725750	1473623	34	2438											
NUP210	23225	genome.wustl.edu	37	chr3	13368884	13368884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcccacgctgactgtgCggacaacgcaggtgttgttg	7	9	14	11	3	1	1	1	1	0	0	1	2	1	2	1	3	2	4	1	3	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:13368884C>T	ENST00000254508.5	-	32	4422	c.4340G>A	c.(4339-4341)cGc>cAc	p.R1447H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1447					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCTGACTGTGCGGACAACGCA	0.617																																																	0													54	42	46					3																	13368884		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4340G>A	3.37:g.13368884C>T	ENSP00000254508:p.Arg1447His		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.R1447H	ENST00000254508.5	37	c.4340	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621468	0.46736	.	.	ENSG00000132182	ENST00000254508	T	0.05717	3.4	5.74	5.74	0.90152	.	0.126644	0.49916	D	0.000139	T	0.22975	0.0555	L	0.55743	1.74	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.00054	-1.2184	10	0.40728	T	0.16	.	19.9197	0.97082	0.0:1.0:0.0:0.0	.	1447	Q8TEM1	PO210_HUMAN	H	1447	ENSP00000254508:R1447H	ENSP00000254508:R1447H	R	-	2	0	NUP210	13343884	1.000000	0.71417	0.111000	0.21465	0.008000	0.06430	4.880000	0.63107	2.702000	0.92279	0.655000	0.94253	CGC	NUP210	-	NULL	ENSG00000132182		0.617	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	33	0	C	NM_024923		13368884	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.987	T	T	13368884	C	T	13368884	3	4	9	1	0	0	0	0	1	0	0	0	10799	768	27	1	1359	1	NUP210	3	13368884	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		13368884	184653546	35	2439											
SCAP	22937	genome.wustl.edu	37	chr3	47467561	47467561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctcagcgacaccaatcTcctccttgaagtgcacgtgg	9	9	10	13	2	2	2	1	2	1	0	4	3	3	2	3	1	3	2	3	1	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:47467561T>A	ENST00000265565.5	-	7	1248	c.836A>T	c.(835-837)gAg>gTg	p.E279V	SCAP_ENST00000441517.2_Missense_Mutation_p.E24V|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	279					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GACACCAATCTCCTCCTTGAA	0.602																																					Pancreas(149;978 1908 29304 37806 46700)												0													179	144	156					3																	47467561		2203	4300	6503	SO:0001583	missense	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.836A>T	3.37:g.47467561T>A	ENSP00000265565:p.Glu279Val		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E279V	ENST00000265565.5	37	c.836	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	T	34	5.338592	0.95783	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517	D;D	0.82619	-1.63;-1.54	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.90232	0.6946	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.924;0.978	D	0.91532	0.5243	10	0.87932	D	0	-29.4961	14.9004	0.70675	0.0:0.0:0.0:1.0	.	24;279	F8W921;Q12770	.;SCAP_HUMAN	V	279;279;24	ENSP00000265565:E279V;ENSP00000416847:E24V	ENSP00000265565:E279V	E	-	2	0	SCAP	47442565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.670000	0.83925	2.108000	0.64289	0.528000	0.53228	GAG	SCAP	-	NULL	ENSG00000114650		0.602	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0	50	0	T	NM_012235		47467561	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	68.75	10	22	SNP	1.000	A	A	47467561	T	A	47467561	3	1	9	1	0	0	0	0	1	0	0	0	13922	1551	54	5	3071	5	SCAP	3	47467561	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	34098677	47467561	150554869	36	2440											
DNAH1	25981	genome.wustl.edu	37	chr3	52428676	52428676	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacagccttgagccccacCggttagctgggccccagaat	8	7	11	15	2	0	2	0	1	0	1	1	3	0	2	6	2	3	2	6	2	2	2	rs142905685		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:52428676C>A	ENST00000420323.2	+	67	11083	c.10822C>A	c.(10822-10824)Cgg>Agg	p.R3608R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3673					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAGCCCCACCGGTTAGCTGG	0.582																																																	0													56	58	57					3																	52428676		1930	4123	6053	SO:0001630	splice_region_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10823+1C>A	3.37:g.52428676C>A			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.R3608	ENST00000420323.2	37	c.10822	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy_dom	ENSG00000114841		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1		0	62	0	C	NM_015512	Silent	52428676	1			no_errors	ENST00000420323	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A	A	52428676	C	A	52428676	5	1	9	1	0	0	0	0	0	0	1	0	4611	666	23	2	11084	2	DNAH1	3	52428676	Splice_Site	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	4961115	52428676	145593754	37	2441											
CD96	10225	genome.wustl.edu	37	chr3	111298030	111298031	+	Frame_Shift_Del	DEL	AG	AG	-																															ggaagttctcttgccacattAgagtcggtcctaacaaaatc																								rs375233278		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:111298030_111298031delAG	ENST00000283285.5	+	5	879_880	c.748_749delAG	c.(748-750)agafs	p.R250fs	CD96_ENST00000438817.2_Frame_Shift_Del_p.R234fs|CD96_ENST00000352690.4_Frame_Shift_Del_p.R234fs	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	250					cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTGCCACATTAGAGTCGGTCCT	0.475									Opitz Trigonocephaly syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.748_749delAG	3.37:g.111298032_111298033delAG	ENSP00000283285:p.Arg250fs		Q5JPB3	Frame_Shift_Del	DEL	smart_Ig_sub,pfscan_Ig-like_dom	p.R250fs	ENST00000283285.5	37	c.748_749	CCDS2959.1	3																																																																																			CD96	-	smart_Ig_sub	ENSG00000153283		0.475	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2		0	89	0	AG			111298031	1	tier1		no_errors	ENST00000283285	ensembl	human	known	74_37	frame_shift_del	31.86	77	36	DEL	0.000:0.000	-	-	111298031	AG	-	111298030	7	5	9	1	0	1	0	1	0	0	0	0	3055	412	15	0	766	0	CD96	3	111298030	Frame_Shift_Del	DEL	AG	TCGA-2H-A9GN-01A-11D-A37C-09	58869354	111298030	86724400	38	2442											
GRAMD1C	54762	genome.wustl.edu	37	chr3	113619948	113619948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctaggtttaaatgctgAggagatggaaaacttgtcac	13	11	12	5	0	1	3	1	2	0	1	1	5	1	4	0	3	3	3	0	3	5	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:113619948A>T	ENST00000358160.4	+	7	1103	c.611A>T	c.(610-612)gAg>gTg	p.E204V	GRAMD1C_ENST00000452134.2_De_novo_Start_InFrame|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E37V|GRAMD1C_ENST00000440446.2_De_novo_Start_OutOfFrame|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	204						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTAAATGCTGAGGAGATGGAA	0.393																																																	0													108	101	103					3																	113619948		2203	4300	6503	SO:0001583	missense	0				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.611A>T	3.37:g.113619948A>T	ENSP00000350881:p.Glu204Val		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E204V	ENST00000358160.4	37	c.611	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153770	0.78114	.	.	ENSG00000178075	ENST00000358160;ENST00000472026	T;T	0.57436	1.15;0.4	5.97	4.69	0.59074	.	0.125094	0.51477	D	0.000090	T	0.65626	0.2709	M	0.68593	2.085	0.80722	D	1	D;D	0.67145	0.996;0.964	P;B	0.62298	0.9;0.422	T	0.65689	-0.6107	10	0.49607	T	0.09	.	10.9117	0.47112	0.9195:0.0:0.0805:0.0	.	37;204	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	V	204;37	ENSP00000350881:E204V;ENSP00000419132:E37V	ENSP00000350881:E204V	E	+	2	0	GRAMD1C	115102638	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	3.762000	0.55250	0.956000	0.37904	0.528000	0.53228	GAG	GRAMD1C	-	NULL	ENSG00000178075		0.393	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	-	0	58	0	A	NM_017577		113619948	1	tier1	-	no_errors	ENST00000358160	ensembl	human	known	74_37	missense	25.40	47	16	SNP	1.000	T	T	113619948	A	T	113619948	3	4	9	1	0	0	0	0	1	0	0	0	6776	304	11	5	637	5	GRAMD1C	3	113619948	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	2321918	113619948	84402482	39	2443											
SEMA5B	54437	genome.wustl.edu	37	chr3	122632261	122632261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctcggggttgcacGtcttgaactcctgcgggtgg	4	9	16	12	3	1	1	0	1	1	0	3	1	2	1	2	5	4	3	2	5	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:122632261G>A	ENST00000357599.3	-	17	2677	c.2291C>T	c.(2290-2292)aCg>aTg	p.T764M	SEMA5B_ENST00000195173.4_Missense_Mutation_p.T763M|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T818M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	764	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGGGTTGCACGTCTTGAACTC	0.726																																																	0													7	9	9					3																	122632261		2159	4245	6404	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2291C>T	3.37:g.122632261G>A	ENSP00000350215:p.Thr764Met		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.T818M	ENST00000357599.3	37	c.2453	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834620	0.71373	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.21	4.21	0.49690	.	0.237508	0.42682	D	0.000667	T	0.57021	0.2025	L	0.38838	1.175	0.51767	D	0.999937	D;D;D	0.76494	0.999;0.999;0.999	P;D;D	0.66716	0.852;0.946;0.946	T	0.57860	-0.7738	10	0.44086	T	0.13	.	15.7333	0.77822	0.0:0.0:1.0:0.0	.	706;764;764	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	M	764;763;706;818;764	ENSP00000350215:T764M;ENSP00000195173:T763M;ENSP00000389588:T818M;ENSP00000377208:T764M	ENSP00000195173:T763M	T	-	2	0	SEMA5B	124114951	1.000000	0.71417	0.971000	0.41717	0.642000	0.38348	9.501000	0.97979	2.182000	0.69389	0.561000	0.74099	ACG	SEMA5B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000082684		0.726	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	-	0	19	0	G	NM_001031702		122632261	-1	tier1	-	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	37.50	5	3	SNP	0.999	A	A	122632261	G	A	122632261	3	1	9	1	0	0	0	0	1	0	0	0	14083	1145	40	1	1192	1	SEMA5B	3	122632261	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	9012313	122632261	75390169	40	2444											
TOPBP1	11073	genome.wustl.edu	37	chr3	133339082	133339082	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgctgttacaaccactTcttgaaagggaagtcctctg	10	11	10	10	1	2	1	0	1	2	0	3	3	3	2	2	1	3	2	2	1	4	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:133339082T>C	ENST00000260810.5	-	20	3419	c.3288A>G	c.(3286-3288)agA>agG	p.R1096R		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1096					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TACAACCACTTCTTGAAAGGG	0.493								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													170	166	167					3																	133339082		1986	4170	6156	SO:0001819	synonymous_variant	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3288A>G	3.37:g.133339082T>C			B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.R1096	ENST00000260810.5	37	c.3288	CCDS46919.1	3																																																																																			TOPBP1	-	NULL	ENSG00000163781		0.493	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0	83	0	T	NM_007027		133339082	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.991	C	C	133339082	T	C	133339082	2	2	9	1	0	0	0	0	0	0	0	1	16417	1780	62	4		4	TOPBP1	3	133339082	Silent	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	10706821	133339082	64683348	41	2445											
ESYT3	83850	genome.wustl.edu	37	chr3	138178065	138178065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcagtgtggagctgcaGaagattcaggctggtgtgaa	11	9	16	5	0	2	4	2	1	0	3	2	6	2	5	0	3	2	3	0	3	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:138178065G>T	ENST00000389567.4	+	5	804	c.618G>T	c.(616-618)caG>caT	p.Q206H	ESYT3_ENST00000289135.4_Missense_Mutation_p.Q206H	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	206	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGGAGCTGCAGAAGATTCAGG	0.612																																																	0													161	158	159					3																	138178065		2203	4300	6503	SO:0001583	missense	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.618G>T	3.37:g.138178065G>T	ENSP00000374218:p.Gln206His		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.Q206H	ENST00000389567.4	37	c.618	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593394	0.66219	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	T;T	0.80033	-1.33;-1.33	4.98	2.81	0.32909	.	0.338546	0.31392	N	0.007737	T	0.77170	0.4091	L	0.36672	1.1	0.28197	N	0.927496	D	0.61697	0.99	P	0.53593	0.73	T	0.69558	-0.5113	10	0.51188	T	0.08	-14.2324	7.8509	0.29453	0.2251:0.0:0.7749:0.0	.	206	A0FGR9	ESYT3_HUMAN	H	206	ENSP00000374218:Q206H;ENSP00000289135:Q206H	ENSP00000289135:Q206H	Q	+	3	2	ESYT3	139660755	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.559000	0.36320	1.098000	0.41479	0.561000	0.74099	CAG	ESYT3	-	NULL	ENSG00000158220		0.612	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	-	0	58	0	G	NM_031913		138178065	1	tier1	-	no_errors	ENST00000389567	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	138178065	G	T	138178065	3	4	9	1	0	0	0	0	1	0	0	0	5282	933	33	3	636	3	ESYT3	3	138178065	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	4838983	138178065	59844365	42	2446											
HPS3	84343	genome.wustl.edu	37	chr3	148877872	148877872	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatgttttatgtggctGagccaaagcaagtgccccat	10	12	10	9	0	1	2	1	1	0	1	1	2	1	2	3	1	3	3	3	1	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:148877872G>T	ENST00000296051.2	+	11	2052	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.E473*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	638					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTATGTGGCTGAGCCAAAGCA	0.408									Hermansky-Pudlak syndrome																																								0													163	161	162					3																	148877872		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1912G>T	3.37:g.148877872G>T	ENSP00000296051:p.Glu638*		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Nonsense_Mutation	SNP	pirsf_HPS3	p.E638*	ENST00000296051.2	37	c.1912	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.512128	0.99192	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	5.41	5.41	0.78517	.	0.143868	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-16.0404	19.5526	0.95328	0.0:0.0:1.0:0.0	.	.	.	.	X	638;473	.	ENSP00000296051:E638X	E	+	1	0	HPS3	150360562	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.762000	0.85270	2.701000	0.92244	0.563000	0.77884	GAG	HPS3	-	pirsf_HPS3	ENSG00000163755		0.408	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	-	0	80	0	G	NM_032383		148877872	1	tier1	-	no_errors	ENST00000296051	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	148877872	G	T	148877872	4	4	9	1	0	0	0	0	0	1	0	0	7367	1291	45	3	1954	3	HPS3	3	148877872	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	10699807	148877872	49144558	43	2447											
IGSF10	285313	genome.wustl.edu	37	chr3	151155705	151155705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catccccactgggatttcggGctacacatacgtactctcca	9	10	7	15	2	1	0	0	0	1	0	4	1	2	1	3	2	3	2	3	2	3	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:151155705G>A	ENST00000282466.3	-	6	6643	c.6644C>T	c.(6643-6645)gCc>gTc	p.A2215V	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2215	Ig-like C2-type 8.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGATTTCGGGCTACACATAC	0.403																																																	0													115	109	111					3																	151155705		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6644C>T	3.37:g.151155705G>A	ENSP00000282466:p.Ala2215Val		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A2215V	ENST00000282466.3	37	c.6644	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231499	0.79688	.	.	ENSG00000152580	ENST00000282466	T	0.72505	-0.66	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000219	D	0.84660	0.5521	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.83357	-0.0000	10	0.44086	T	0.13	.	19.9792	0.97320	0.0:0.0:1.0:0.0	.	2215;242	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	V	2215	ENSP00000282466:A2215V	ENSP00000282466:A2215V	A	-	2	0	IGSF10	152638395	1.000000	0.71417	0.572000	0.28498	0.921000	0.55340	9.414000	0.97362	2.727000	0.93392	0.591000	0.81541	GCC	IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000152580		0.403	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1		0	68	0	G	NM_178822		151155705	-1			no_errors	ENST00000282466	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	A	A	151155705	G	A	151155705	3	1	9	1	0	0	0	0	1	0	0	0	7624	1203	42	3	1231	3	IGSF10	3	151155705	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2277833	151155705	46866725	44	2448											
P2RY1	5028	genome.wustl.edu	37	chr3	152554373	152554373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtaatcattgtactgactGtttttgctgtgtcttacatc	7	19	8	7	0	2	1	1	1	1	0	3	1	2	1	0	1	3	4	0	1	3	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:152554373G>T	ENST00000305097.3	+	1	1638	c.802G>T	c.(802-804)Gtt>Ttt	p.V268F	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	268					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TGTACTGACTGTTTTTGCTGT	0.428																																																	0													115	113	114					3																	152554373		2203	4300	6503	SO:0001583	missense	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.802G>T	3.37:g.152554373G>T	ENSP00000304767:p.Val268Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn	p.V268F	ENST00000305097.3	37	c.802	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919235	0.73098	.	.	ENSG00000169860	ENST00000305097	T	0.75938	-0.98	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.88816	0.3295	10	0.46703	T	0.11	.	18.5615	0.91101	0.0:0.0:1.0:0.0	.	268	P47900	P2RY1_HUMAN	F	268	ENSP00000304767:V268F	ENSP00000304767:V268F	V	+	1	0	P2RY1	154037063	1.000000	0.71417	0.828000	0.32881	0.918000	0.54935	9.731000	0.98807	2.618000	0.88619	0.563000	0.77884	GTT	P2RY1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169860		0.428	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1		0	37	0	G	NM_002563		152554373	1			no_errors	ENST00000305097	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.999	T	T	152554373	G	T	152554373	3	4	9	1	0	0	0	0	1	0	0	0	11385	1377	48	3	804	3	P2RY1	3	152554373	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1398668	152554373	45468057	45	2449											
GFM1	85476	genome.wustl.edu	37	chr3	158408049	158408049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagtaattgcaggaattaaCcgacgccatggggtaatcac	14	8	10	9	2	1	0	1	0	0	0	1	2	1	1	2	3	2	3	2	3	5	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr3:158408049C>T	ENST00000486715.1	+	16	2364	c.2007C>T	c.(2005-2007)aaC>aaT	p.N669N	RP11-379F4.7_ENST00000607624.1_lincRNA|GFM1_ENST00000264263.5_Silent_p.N688N	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CAGGAATTAACCGACGCCATG	0.418																																																	0													182	179	180					3																	158408049		2203	4300	6503	SO:0001819	synonymous_variant	0			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2007C>T	3.37:g.158408049C>T				Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.N669	ENST00000486715.1	37	c.2007	CCDS33885.1	3																																																																																			GFM1	-	pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V,tigrfam_Transl_elong_EFG/EF2	ENSG00000168827		0.418	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1		0	97	0	C	NM_024996		158408049	1			no_errors	ENST00000486715	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	158408049	C	T	158408049	2	4	9	1	0	0	0	0	0	0	0	1	6367	506	18	3		3	GFM1	3	158408049	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	5853676	158408049	39614381	46	2450											
SEL1L3	23231	genome.wustl.edu	37	chr4	25783966	25783968	+	In_Frame_Del	DEL	CTT	CTT	-																															tcttctgcttttaaccagtaCtttgctgctttggcgtaatt																										TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:25783966_25783968delCTT	ENST00000399878.3	-	15	2475_2477	c.2353_2355delAAG	c.(2353-2355)aagdel	p.K785del	SEL1L3_ENST00000502949.1_In_Frame_Del_p.K632del|SEL1L3_ENST00000264868.5_In_Frame_Del_p.K750del	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	785						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTAACCAGTACTTTGCTGCTTTG	0.429																																																	0																																										SO:0001651	inframe_deletion	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2353_2355delAAG	4.37:g.25783966_25783968delCTT	ENSP00000382767:p.Lys785del		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	In_Frame_Del	DEL	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.K785in_frame_del	ENST00000399878.3	37	c.2355_2353	CCDS47037.1	4																																																																																			SEL1L3	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000091490		0.429	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1		0	78	0	CTT	NM_015187		25783968	-1	tier1		no_errors	ENST00000399878	ensembl	human	known	74_37	in_frame_del	64.71	12	22	DEL	0.999:0.999:0.964	-	-	25783968	CTT	-	25783966	7	5	9	1	0	1	0	1	0	0	0	0	14057	564	20	0	1083	0	SEL1L3	4	25783966	In_Frame_Del	DEL	CTT	TCGA-2H-A9GN-01A-11D-A37C-09		25783966	165370310	47	2451											
C4orf14	84273	genome.wustl.edu	37	chr4	57842621	57842621	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcacctggccaaggggaGatggtggctctgtcgatggc	8	8	15	10	1	2	1	1	0	1	1	3	3	2	1	2	6	1	1	2	6	2	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:57842621G>T	ENST00000264230.4	-	1	2368	c.1131C>A	c.(1129-1131)atC>atA	p.I377I	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	377	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCCAAGGGGAGATGGTGGCTC	0.597																																																	0													62	61	61					4																	57842621		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1131C>A	4.37:g.57842621G>T			Q8N7L6|Q9BSQ9	Silent	SNP	superfamily_P-loop_NTPase	p.I377	ENST00000264230.4	37	c.1131	CCDS3510.1	4																																																																																			NOA1	-	superfamily_P-loop_NTPase	ENSG00000084092		0.597	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	-	0	19	0	G	NM_032313		57842621	-1	tier1	-	no_errors	ENST00000264230	ensembl	human	known	74_37	silent	60.00	8	12	SNP	1.000	T	T	57842621	G	T	57842621	2	4	9	1	0	0	0	0	0	0	0	1	2258	932	33	3		3	C4orf14	4	57842621	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	32058655	57842621	133311655	48	2452											
PTPN13	5783	genome.wustl.edu	37	chr4	87718046	87718046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccaaaatgaatggctGtgaagaatattgtgaagaaa	17	8	11	5	0	0	5	0	3	0	2	0	5	0	5	2	2	0	1	2	2	8	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:87718046G>A	ENST00000411767.2	+	41	6428	c.6365G>A	c.(6364-6366)tGt>tAt	p.C2122Y	PTPN13_ENST00000511467.1_Missense_Mutation_p.C2127Y|PTPN13_ENST00000436978.1_Missense_Mutation_p.C2127Y|PTPN13_ENST00000316707.6_Missense_Mutation_p.C1931Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.C2103Y			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2122					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATGAATGGCTGTGAAGAATAT	0.279																																																	0													45	40	42					4																	87718046		1791	4065	5856	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.6365G>A	4.37:g.87718046G>A	ENSP00000407249:p.Cys2122Tyr		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.C2127Y	ENST00000411767.2	37	c.6380	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	0.247	-1.009573	0.02095	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.51574	0.7;0.73;0.81;0.7;0.73	4.88	2.96	0.34315	.	0.271846	0.26055	N	0.026603	T	0.31765	0.0807	L	0.47716	1.5	0.37193	D	0.904033	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.21381	-1.0247	10	0.02654	T	1	.	7.3233	0.26540	0.099:0.1666:0.7344:0.0	.	1931;2103;2122;2127	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Y	2103;2127;1931;2122;2127;2071	ENSP00000408368:C2103Y;ENSP00000394794:C2127Y;ENSP00000322675:C1931Y;ENSP00000407249:C2122Y;ENSP00000426626:C2127Y	ENSP00000322675:C1931Y	C	+	2	0	PTPN13	87937070	1.000000	0.71417	0.747000	0.31113	0.916000	0.54674	0.982000	0.29539	0.943000	0.37553	0.655000	0.94253	TGT	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.279	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	130	0	G			87718046	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	missense	70.00	20	49	SNP	0.999	A	A	87718046	G	A	87718046	3	1	9	1	0	0	0	0	1	0	0	0	12825	1377	48	3	6538	3	PTPN13	4	87718046	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	29875425	87718046	103436230	49	2453											
BDH2	56898	genome.wustl.edu	37	chr4	104000908	104000908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggttaccagttacataaGcagactgcagtgataaacac	15	8	9	9	0	0	2	0	1	0	1	0	2	0	2	1	1	5	4	1	1	5	4	rs56124221		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:104000908G>A	ENST00000296424.4	-	10	809	c.689C>T	c.(688-690)gCt>gTt	p.A230V	SLC9B2_ENST00000339611.4_5'Flank|SLC9B2_ENST00000394785.3_5'Flank|SLC9B2_ENST00000503230.1_5'Flank	NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	230				A -> T (in Ref. 6; AAH95414). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		AGTTACATAAGCAGACTGCAG	0.423																																																	0													131	114	120					4																	104000908		2203	4300	6503	SO:0001583	missense	0			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.689C>T	4.37:g.104000908G>A	ENSP00000296424:p.Ala230Val		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.A230V	ENST00000296424.4	37	c.689	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525815	0.64860	.	.	ENSG00000164039	ENST00000296424	T	0.23950	1.88	5.31	4.47	0.54385	NAD(P)-binding domain (1);	0.218408	0.48286	D	0.000189	T	0.23451	0.0567	M	0.65320	2	0.46678	D	0.999153	P	0.38455	0.632	B	0.32624	0.149	T	0.05649	-1.0872	10	0.66056	D	0.02	.	8.5084	0.33201	0.177:0.0:0.823:0.0	rs56124221	230	Q9BUT1	BDH2_HUMAN	V	230	ENSP00000296424:A230V	ENSP00000296424:A230V	A	-	2	0	BDH2	104220357	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.298000	0.89944	1.371000	0.46172	0.585000	0.79938	GCT	BDH2	-	prints_DHB_DH	ENSG00000164039		0.423	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2		0	65	0	G	NM_020139		104000908	-1			no_errors	ENST00000296424	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	104000908	G	A	104000908	3	1	9	1	0	0	0	0	1	0	0	0	1392	971	34	3	52	3	BDH2	4	104000908	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	16282862	104000908	87153368	50	2454											
METTL14	57721	genome.wustl.edu	37	chr4	119609098	119609098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagctgaaagtgccgaCagcattggtgccgtgttaaa	10	10	14	7	2	0	1	0	1	0	0	0	3	0	2	2	2	4	3	2	2	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:119609098C>T	ENST00000388822.5	+	2	254	c.87C>T	c.(85-87)gaC>gaT	p.D29D	METTL14_ENST00000506780.1_5'UTR			Q9HCE5	MET14_HUMAN	methyltransferase like 14	29					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AAAGTGCCGACAGCATTGGTG	0.373																																																	0													93	92	92					4																	119609098		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.87C>T	4.37:g.119609098C>T			A6NIG1|Q969V2	Silent	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.D29	ENST00000388822.5	37	c.87	CCDS34053.1	4																																																																																			METTL14	-	NULL	ENSG00000145388		0.373	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	HGNC	protein_coding	OTTHUMT00000364034.3	-	0	62	0	C	NM_020961		119609098	1	tier1	-	no_errors	ENST00000388822	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	119609098	C	T	119609098	2	4	9	1	0	0	0	0	0	0	0	1	9536	477	17	3		3	METTL14	4	119609098	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	15608190	119609098	71545178	51	2455											
PCDH10	57575	genome.wustl.edu	37	chr4	134072935	134072935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggtggaagcccgggAcgctggcagcccccaggcgc	6	6	15	14	3	1	0	1	0	0	0	1	2	1	2	3	5	2	2	3	5	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:134072935A>T	ENST00000264360.5	+	1	2466	c.1640A>T	c.(1639-1641)gAc>gTc	p.D547V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGCCCGGGACGCTGGCAGC	0.572																																																	0													50	56	54					4																	134072935		2075	4081	6156	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1640A>T	4.37:g.134072935A>T	ENSP00000264360:p.Asp547Val		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D547V	ENST00000264360.5	37	c.1640	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800482	0.90538	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.80909	-1.43	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.45867	D	0.000336	D	0.93572	0.7948	H	0.98849	4.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95501	0.8577	10	0.87932	D	0	.	12.9618	0.58462	1.0:0.0:0.0:0.0	.	547;547	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	547	ENSP00000264360:D547V	ENSP00000264360:D547V	D	+	2	0	PCDH10	134292385	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.295000	0.78780	1.889000	0.54706	0.533000	0.62120	GAC	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000138650		0.572	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	12	0	A	NM_032961		134072935	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T	T	134072935	A	T	134072935	3	4	9	1	0	0	0	0	1	0	0	0	11546	275	10	5	1642	5	PCDH10	4	134072935	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	14463837	134072935	57081341	52	2456											
FBXW7	55294	genome.wustl.edu	37	chr4	153332739	153332739	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccaactgtccttgctGggaatcattttggcctccag	6	15	8	12	0	2	0	1	0	1	0	5	1	5	1	4	2	2	1	4	2	2	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:153332739G>A	ENST00000281708.4	-	2	1446	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q73*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q73*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Q73*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	73					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTCCTTGCTGGGAATCATTT	0.448			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	0													268	251	257					4																	153332739		2203	4300	6503	SO:0001587	stop_gained	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.217C>T	4.37:g.153332739G>A	ENSP00000281708:p.Gln73*		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q73*	ENST00000281708.4	37	c.217	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.318354	0.95682	.	.	ENSG00000109670	ENST00000281708	.	.	.	5.78	5.78	0.91487	.	1.522730	0.03658	N	0.242142	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-7.1737	20.0175	0.97485	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000281708:Q73X	Q	-	1	0	FBXW7	153552189	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.843000	0.62838	2.730000	0.93505	0.650000	0.86243	CAG	FBXW7	-	NULL	ENSG00000109670		0.448	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0	68	0	G			153332739	-1	tier1	-	no_errors	ENST00000281708	ensembl	human	known	74_37	nonsense	71.70	15	38	SNP	1.000	A	A	153332739	G	A	153332739	4	1	9	1	0	0	0	0	0	1	0	0	5791	1357	47	3	2366	3	FBXW7	4	153332739	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	19259804	153332739	37821537	53	2457											
SPOCK3	50859	genome.wustl.edu	37	chr4	167833799	167833799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaggtatgaccatctgaaCcacaaacagggctgggatag	14	7	12	8	0	1	2	0	2	1	0	1	3	1	3	2	3	2	3	2	3	5	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr4:167833799C>T	ENST00000357154.3	-	6	592	c.455G>A	c.(454-456)gGt>gAt	p.G152D	SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000535728.1_Missense_Mutation_p.G60D|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G149D|SPOCK3_ENST00000512648.1_Missense_Mutation_p.G149D|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G32D|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G149D|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G152D|SPOCK3_ENST00000504953.1_Missense_Mutation_p.G149D|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G101D|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G152D|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G149D|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G152D|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G56D	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	152	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ACCATCTGAACCACAAACAGG	0.433																																																	0													126	121	123					4																	167833799		2203	4300	6503	SO:0001583	missense	0			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.455G>A	4.37:g.167833799C>T	ENSP00000349677:p.Gly152Asp		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.G152D	ENST00000357154.3	37	c.455	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460208	0.63401	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000534949;ENST00000512648;ENST00000509854	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.04	4.19	0.49359	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	D	0.88411	0.6429	H	0.99634	4.67	0.53688	D	0.999973	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.987;0.984;0.993;0.98;0.984	D;D;D;P;P;P;P	0.97110	1.0;0.998;0.915;0.885;0.865;0.817;0.885	D	0.93283	0.6662	10	0.87932	D	0	5.5322	14.8034	0.69932	0.1456:0.8544:0.0:0.0	.	56;101;161;149;152;149;152	F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	D	152;149;149;152;152;152;149;32;149;60;101;56;149;149	ENSP00000349677:G152D;ENSP00000350153:G149D;ENSP00000425570:G149D;ENSP00000420920:G152D;ENSP00000423421:G152D;ENSP00000423606:G152D;ENSP00000426716:G149D;ENSP00000444789:G32D;ENSP00000425502:G149D;ENSP00000441396:G60D;ENSP00000411344:G101D;ENSP00000438142:G56D;ENSP00000426177:G149D;ENSP00000423367:G149D	ENSP00000349677:G152D	G	-	2	0	SPOCK3	168070374	1.000000	0.71417	0.990000	0.47175	0.358000	0.29455	5.440000	0.66563	1.233000	0.43693	0.643000	0.83706	GGT	SPOCK3	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000196104		0.433	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1		0	87	0	C			167833799	-1			no_errors	ENST00000357154	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	167833799	C	T	167833799	3	4	9	1	0	0	0	0	1	0	0	0	15128	507	18	3	883	3	SPOCK3	4	167833799	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	14501060	167833799	23320477	54	2458											
FYB	2533	genome.wustl.edu	37	chr5	39202766	39202766	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcctcggggtctctggtGgtcaagctggctggtgttcc	2	13	15	11	2	2	0	1	0	1	0	6	0	3	0	2	6	1	3	2	6	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr5:39202766G>T	ENST00000351578.6	-	2	487	c.297C>A	c.(295-297)acC>acA	p.T99T	FYB_ENST00000512982.1_Silent_p.T99T|FYB_ENST00000515010.1_Silent_p.T99T|FYB_ENST00000505428.1_Silent_p.T99T|FYB_ENST00000540520.1_Silent_p.T109T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	99					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GGTCTCTGGTGGTCAAGCTGG	0.532																																																	0													60	57	58					5																	39202766		1884	4111	5995	SO:0001819	synonymous_variant	0			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.297C>A	5.37:g.39202766G>T			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.T109	ENST00000351578.6	37	c.327	CCDS47200.1	5																																																																																			FYB	-	NULL	ENSG00000082074		0.532	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	-	0	85	0	G	NM_001465		39202766	-1	tier1	-	no_errors	ENST00000540520	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.000	T	T	39202766	G	T	39202766	2	4	9	1	0	0	0	0	0	0	0	1	6148	1335	47	3		3	FYB	5	39202766	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		39202766	141712494	55	2459											
SKIV2L2	23517	genome.wustl.edu	37	chr5	54710013	54710013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttttcttttatagtctAgtgagatgcccaaattaaca	11	17	5	8	0	2	1	0	1	2	1	3	2	3	1	2	0	2	0	2	0	5	8			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr5:54710013A>G	ENST00000230640.5	+	24	3009	c.2755A>G	c.(2755-2757)Agt>Ggt	p.S919G	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.S818G	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	919					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTATAGTCTAGTGAGATGCC	0.299																																					Melanoma(2;92 134 23744 29976 33782)												0													136	136	136					5																	54710013		2203	4300	6503	SO:0001583	missense	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2755A>G	5.37:g.54710013A>G	ENSP00000230640:p.Ser919Gly		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S919G	ENST00000230640.5	37	c.2755	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839017	0.51057	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.22539	1.95;1.95	5.42	5.42	0.78866	DSH, C-terminal (1);	0.245688	0.47455	D	0.000223	T	0.18841	0.0452	L	0.33093	0.98	0.58432	D	0.999994	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.003	T	0.02150	-1.1205	10	0.40728	T	0.16	-31.3837	15.7467	0.77949	1.0:0.0:0.0:0.0	.	818;919	F5H7E2;P42285	.;SK2L2_HUMAN	G	919;818	ENSP00000230640:S919G;ENSP00000442583:S818G	ENSP00000230640:S919G	S	+	1	0	SKIV2L2	54745770	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.690000	0.91272	2.179000	0.69175	0.482000	0.46254	AGT	SKIV2L2	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000039123		0.299	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	-	0	87	0	A			54710013	1	tier1	-	no_errors	ENST00000230640	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G	G	54710013	A	G	54710013	3	3	9	1	0	0	0	0	1	0	0	0	14405	420	15	4	2849	4	SKIV2L2	5	54710013	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	15507247	54710013	126205247	56	2460											
TTC37	9652	genome.wustl.edu	37	chr5	94833131	94833131	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactttacctttgcatttcGttgagcatactgtgcaacaa	10	16	6	9	1	0	1	0	1	0	0	1	1	0	1	1	0	7	4	1	0	5	7	rs140800288		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr5:94833131G>T	ENST00000358746.2	-	34	3923	c.3625C>A	c.(3625-3627)Cga>Aga	p.R1209R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1209						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTGCATTTCGTTGAGCATAC	0.368																																																	0													119	106	110					5																	94833131		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3625C>A	5.37:g.94833131G>T			O15077|Q6PJI3	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R1209	ENST00000358746.2	37	c.3625	CCDS4072.1	5																																																																																			TTC37	-	NULL	ENSG00000198677		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1	-	0	76	0	G	NM_014639		94833131	-1	tier1	-	no_errors	ENST00000358746	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.120	T	T	94833131	G	T	94833131	2	4	9	1	0	0	0	0	0	0	0	1	16754	1153	40	2		2	TTC37	5	94833131	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	40123118	94833131	86082129	57	2461											
DMXL1	1657	genome.wustl.edu	37	chr5	118482976	118482976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atacaaaattatccgaagcgGtttggcagccagaagaacat	16	8	9	8	2	0	2	0	0	0	2	1	3	1	2	2	2	4	2	2	2	7	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr5:118482976G>A	ENST00000311085.8	+	17	2802	c.2722G>A	c.(2722-2724)Gtt>Att	p.V908I	DMXL1_ENST00000539542.1_Missense_Mutation_p.V908I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	908										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATCCGAAGCGGTTTGGCAGCC	0.378																																																	0													61	66	64					5																	118482976		2201	4300	6501	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.2722G>A	5.37:g.118482976G>A	ENSP00000309690:p.Val908Ile			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V908I	ENST00000311085.8	37	c.2722	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	7.594	0.671433	0.14776	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.30981	1.51;1.51	5.73	3.82	0.43975	.	0.914403	0.09571	N	0.784123	T	0.16171	0.0389	N	0.04508	-0.205	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16719	-1.0393	10	0.36615	T	0.2	-0.7593	10.3276	0.43803	0.0743:0.1359:0.7898:0.0	.	908;908	F5H269;Q9Y485	.;DMXL1_HUMAN	I	908	ENSP00000309690:V908I;ENSP00000439479:V908I	ENSP00000309690:V908I	V	+	1	0	DMXL1	118510875	0.027000	0.19231	0.995000	0.50966	0.034000	0.12701	0.591000	0.23969	1.387000	0.46486	0.591000	0.81541	GTT	DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.378	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	-	0	79	0	G	NM_005509		118482976	1	tier1	-	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.757	A	A	118482976	G	A	118482976	3	1	9	1	0	0	0	0	1	0	0	0	4608	1261	44	3	2788	3	DMXL1	5	118482976	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	23649845	118482976	62432284	58	2462											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140798869	140798869	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcctctgacccagacttCgggctcaacggccgtgtctc	6	9	11	15	3	3	2	1	1	2	1	5	2	3	2	3	2	2	1	3	2	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr5:140798869C>T	ENST00000398594.2	+	1	1443	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F481L(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCAGACTTCGGGCTCAACG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											78	89	85					5																	140798869		2138	4234	6372	SO:0001819	synonymous_variant	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1443C>T	5.37:g.140798869C>T			Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F481	ENST00000398594.2	37	c.1443	CCDS47293.1	5																																																																																			PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.622	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1		0	53	0	C	NM_018927		140798869	1			no_errors	ENST00000398594	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.012	T	T	140798869	C	T	140798869	2	4	9	1	0	0	0	0	0	0	0	1	11607	883	31	1		1	PCDHGB7	5	140798869	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	22315893	140798869	40116391	59	2463											
ARSI	340075	genome.wustl.edu	37	chr5	149676934	149676934	+	Frame_Shift_Del	DEL	C	C	-																															tggcccagggcccccaagcaCccccattaaagtcaggatga																										TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr5:149676934delC	ENST00000328668.7	-	2	2132	c.1553delG	c.(1552-1554)ggtfs	p.G518fs		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	518					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCCAAGCACCCCCATTAAA	0.607																																																	0													78	93	88					5																	149676934		2203	4300	6503	SO:0001589	frameshift_variant	0			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1553delG	5.37:g.149676934delC	ENSP00000333395:p.Gly518fs		A1L3B0|B3KV22|B7XD03	Frame_Shift_Del	DEL	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G518fs	ENST00000328668.7	37	c.1553	CCDS34275.1	5																																																																																			ARSI	-	superfamily_Alkaline_phosphatase_core	ENSG00000183876		0.607	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSI	HGNC	protein_coding	OTTHUMT00000373681.1		0	38	0	C	NM_001012301		149676934	-1			no_errors	ENST00000328668	ensembl	human	known	74_37	frame_shift_del	26.32	28	10	DEL	1.000	0	-	149676934	C	-	149676934	7	5	9	1	0	1	0	1	0	0	0	0	995	507	18	0	160	0	ARSI	5	149676934	Frame_Shift_Del	DEL	C	TCGA-2H-A9GN-01A-11D-A37C-09	8878065	149676934	31238326	60	2464											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178579173	178579173	+	Frame_Shift_Del	DEL	G	G	-																															gcacacatagtcccgtccaaGgggggccccttcttggtctt																										TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr5:178579173delG	ENST00000251582.7	-	10	1700	c.1599delC	c.(1597-1599)cccfs	p.P533fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.P533fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	533	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCCGTCCAAGGGGGGCCCCT	0.597																																																	0													64	60	61					5																	178579173		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1599delC	5.37:g.178579173delG	ENSP00000251582:p.Pro533fs			Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.L534fs	ENST00000251582.7	37	c.1599	CCDS4444.1	5																																																																																			ADAMTS2	-	NULL	ENSG00000087116		0.597	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1		0	64	0	G	NM_014244		178579173	-1	tier1		no_errors	ENST00000251582	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.009	-	-	178579173	G	-	178579173	7	5	9	1	0	1	0	1	0	0	0	0	265	987	35	0	2163	0	ADAMTS2	5	178579173	Frame_Shift_Del	DEL	G	TCGA-2H-A9GN-01A-11D-A37C-09	28902239	178579173	2336087	61	2465											
LRRC16A	55604	genome.wustl.edu	37	chr6	25488781	25488781	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtccacctcgacctcTcagggaacgtccttcgtgga	6	10	9	16	3	1	0	1	0	1	0	6	3	3	2	5	2	1	0	5	2	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:25488781T>G	ENST00000329474.6	+	13	1401	c.1033T>G	c.(1033-1035)Tca>Gca	p.S345A		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	345					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCTCGACCTCTCAGGGAACGT	0.458																																																	0													193	187	189					6																	25488781		1933	4136	6069	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1033T>G	6.37:g.25488781T>G	ENSP00000331983:p.Ser345Ala		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.S345A	ENST00000329474.6	37	c.1033	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557996	0.86231	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.60299	0.2	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.78916	2.43	0.80722	D	1	D;D;D	0.76494	0.996;0.996;0.999	D;D;D	0.80764	0.99;0.915;0.994	T	0.75079	-0.3444	10	0.59425	D	0.04	.	14.9916	0.71393	0.0:0.0:0.0:1.0	.	345;345;345	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	A	345	ENSP00000331983:S345A	ENSP00000331983:S345A	S	+	1	0	LRRC16A	25596760	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.371000	0.79600	1.995000	0.58328	0.533000	0.62120	TCA	LRRC16A	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000079691		0.458	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0	98	0	T	NM_017640		25488781	1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	38.03	44	27	SNP	1.000	G	G	25488781	T	G	25488781	3	3	9	1	0	0	0	0	1	0	0	0	9006	1551	54	4	1083	4	LRRC16A	6	25488781	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09		25488781	145626286	62	2466											
C6orf134	28973	genome.wustl.edu	37	chr6	30594688	30594688	+	IGR	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccgttcgatgtggacgCgctgttcccggagcggatca	5	10	14	12	6	1	0	1	0	0	0	4	4	3	3	2	3	1	4	2	3	0	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:30594688C>A	ENST00000259873.4	+	0	1532				ATAT1_ENST00000319027.5_Missense_Mutation_p.A9E|ATAT1_ENST00000376485.4_Missense_Mutation_p.A9E|ATAT1_ENST00000376478.2_Missense_Mutation_p.A9E|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000329992.8_Missense_Mutation_p.A9E|ATAT1_ENST00000330083.5_5'UTR|ATAT1_ENST00000376483.4_Missense_Mutation_p.A9E|ATAT1_ENST00000318999.7_Missense_Mutation_p.A9E	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B						translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GATGTGGACGCGCTGTTCCCG	0.701																																																	0													61	31	42					6																	30594688		1508	2708	4216	SO:0001628	intergenic_variant	0			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268		6.37:g.30594688C>A			A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Alpha-TAT,superfamily_Acyl_CoA_acyltransferase	p.A9E	ENST00000259873.4	37	c.26	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466044	0.43839	.	.	ENSG00000137343	ENST00000318999;ENST00000376485;ENST00000376478;ENST00000319027;ENST00000376483;ENST00000329992	.	.	.	5.27	3.5	0.40072	.	0.554792	0.20111	N	0.099002	T	0.09862	0.0242	N	0.14661	0.345	0.31957	N	0.608931	P;D;B;P	0.60575	0.891;0.988;0.021;0.879	B;P;B;P	0.52267	0.272;0.694;0.038;0.58	T	0.02885	-1.1098	9	0.02654	T	1	-14.8273	7.3871	0.26888	0.0:0.739:0.0:0.261	.	9;9;9;9	Q5SQI0-3;Q5SQI0;Q5SQI0-6;Q5SQI0-4	.;ATAT_HUMAN;.;.	E	9	.	ENSP00000324222:A9E	A	+	2	0	ATAT1	30702667	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.011000	0.40922	0.796000	0.33947	0.563000	0.77884	GCG	ATAT1	-	NULL	ENSG00000137343		0.701	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAT1	HGNC	protein_coding	OTTHUMT00000076584.2	-	0	123	0	C			30594688	1	tier1	-	no_errors	ENST00000376485	ensembl	human	known	74_37	missense	23.08	79	24	SNP	0.998	A	A	30594688	C	A	30594688	1	1	9	0	1	0	0	0	0	0	0	0	2337	768	27	2		2	C6orf134	6	30594688	IGR	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	5105907	30594688	140520379	63	2467											
HLA-DPA1	3113	genome.wustl.edu	37	chr6	33037071	33037071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaacacggtcacctcaGggggatctggaaggagacag	12	5	16	8	1	3	1	2	0	1	1	3	5	3	4	1	6	1	0	1	6	2	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:33037071G>C	ENST00000419277.1	-	4	482	c.353C>G	c.(352-354)cCt>cGt	p.P118R	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.P118R|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	118	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GGTCACCTCAGGGGGATCTGG	0.577																																																	0													61	80	73					6																	33037071		1507	2707	4214	SO:0001583	missense	0			X00457	CCDS4764.1	6p21.3	2013-01-11			ENSG00000231389	ENSG00000231389		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4938	protein-coding gene	gene with protein product		142880		HLA-DP1A		6584734	Standard	NM_033554		Approved		uc003ocs.2	P20036	OTTHUMG00000031058	ENST00000419277.1:c.353C>G	6.37:g.33037071G>C	ENSP00000393566:p.Pro118Arg		A9YWH7|B9UKH4|O19722|O46883|P01905|P79554|Q2Q060|Q2Q061|Q5EY03|Q5STP1|Q6DQK4|Q9BCQ1|Q9TPX3|Q9XS10	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P118R	ENST00000419277.1	37	c.353	CCDS4764.1	6	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845815	0.51164	.	.	ENSG00000231389	ENST00000419277;ENST00000428995;ENST00000453337	T;T;T	0.58358	3.61;3.61;0.34	3.4	2.5	0.30297	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000001	T	0.78457	0.4286	H	0.99454	4.575	0.42707	D	0.993637	D	0.89917	1.0	D	0.91635	0.999	D	0.83492	0.0070	10	0.87932	D	0	.	10.133	0.42691	0.0:0.0:0.7975:0.2025	.	118	P20036	DPA1_HUMAN	R	118	ENSP00000393566:P118R;ENSP00000402872:P118R;ENSP00000390929:P118R	ENSP00000393566:P118R	P	-	2	0	HLA-DPA1	33145049	1.000000	0.71417	0.325000	0.25375	0.811000	0.45836	4.608000	0.61141	0.677000	0.31305	0.643000	0.83706	CCT	HLA-DPA1	-	pfscan_Ig-like_dom	ENSG00000231389		0.577	HLA-DPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPA1	HGNC	protein_coding	OTTHUMT00000076071.3	-	0	54	0	G	NM_033554		33037071	-1	tier1	-	no_errors	ENST00000419277	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.997	C	C	33037071	G	C	33037071	3	2	9	1	0	0	0	0	1	0	0	0	7229	1000	35	5	437	5	HLA-DPA1	6	33037071	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2442383	33037071	138077996	64	2468											
PRPH2	5961	genome.wustl.edu	37	chr6	42689525	42689525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaaaagtccaggtagCgattgctgatccactgaatc	12	9	12	8	1	0	2	0	2	0	0	3	5	2	4	2	3	2	2	2	3	4	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:42689525C>T	ENST00000230381.5	-	1	787	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	183					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R183H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTCCAGGTAGCGATTGCTGAT	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)											151	145	147					6																	42689525		2203	4300	6503	SO:0001583	missense	0				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"Tetraspanins"	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"retinal degeneration, slow (retinitis pigmentosa 7)", "retinal degeneration, slow"	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.548G>A	6.37:g.42689525C>T	ENSP00000230381:p.Arg183His		Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.R183H	ENST00000230381.5	37	c.548	CCDS4871.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.280797	0.95489	.	.	ENSG00000112619	ENST00000230381	T	0.80304	-1.36	5.63	5.63	0.86233	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90821	0.4709	10	0.66056	D	0.02	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	183	P23942	PRPH2_HUMAN	H	183	ENSP00000230381:R183H	ENSP00000230381:R183H	R	-	2	0	PRPH2	42797503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.708000	0.84633	2.814000	0.96858	0.655000	0.94253	CGC	PRPH2	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	ENSG00000112619		0.493	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH2	HGNC	protein_coding	OTTHUMT00000040556.1	-	0	64	0	C	NM_000322		42689525	-1	tier1	-	no_errors	ENST00000230381	ensembl	human	known	74_37	missense	62.90	21	39	SNP	1.000	T	T	42689525	C	T	42689525	3	4	9	1	0	0	0	0	1	0	0	0	12619	768	27	1	504	1	PRPH2	6	42689525	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	9652454	42689525	128425542	65	2469											
DST	667	genome.wustl.edu	37	chr6	56374518	56374518	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtttaagagtttcatacaAcggctgtagcttttccatgt	9	16	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	3	5	1	1	4	7			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:56374518A>G	ENST00000361203.3	-	69	17981	c.17974T>C	c.(17974-17976)Ttg>Ctg	p.L5992L	DST_ENST00000446842.2_Silent_p.L5777L|DST_ENST00000370788.2_Silent_p.L3906L|DST_ENST00000421834.2_Silent_p.L4015L|DST_ENST00000370754.5_Silent_p.L6281L|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.L3689L|DST_ENST00000370769.4_Silent_p.L6103L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5993					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTTCATACAACGGCTGTAGC	0.428																																																	0													120	110	113					6																	56374518		1874	4115	5989	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17974T>C	6.37:g.56374518A>G			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L6281	ENST00000361203.3	37	c.18841		6																																																																																			DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	58	0	A	NM_001723		56374518	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	29.09	39	16	SNP	0.050	G	G	56374518	A	G	56374518	2	3	9	1	0	0	0	0	0	0	0	1	4797	40	2	4		4	DST	6	56374518	Silent	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	13684993	56374518	114740549	66	2470											
COL9A1	1297	genome.wustl.edu	37	chr6	70970365	70970365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatcaccatcttactttttCccctttgtccccaactatgc	7	16	2	16	0	3	0	2	0	1	0	5	0	5	0	5	0	3	0	5	0	3	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:70970365C>T	ENST00000357250.6	-	20	1602	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	COL9A1_ENST00000320755.7_Missense_Mutation_p.E239K|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.E239K	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	482	Collagen-like 5.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTACTTTTTCCCCTTTGTCC	0.333																																																	0													61	61	61					6																	70970365		2203	4300	6503	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1444G>A	6.37:g.70970365C>T	ENSP00000349790:p.Glu482Lys		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E482K	ENST00000357250.6	37	c.1444	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787801	0.49997	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93133	-3.17;-3.17;-3.17	5.86	5.86	0.93980	.	0.217591	0.56097	D	0.000032	D	0.87454	0.6181	N	0.21142	0.635	0.43364	D	0.995443	P;P;B	0.42010	0.768;0.622;0.222	P;B;B	0.47015	0.534;0.295;0.119	D	0.86170	0.1599	10	0.19590	T	0.45	.	17.1033	0.86655	0.0:1.0:0.0:0.0	.	482;239;55	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	K	482;239;239	ENSP00000349790:E482K;ENSP00000315252:E239K;ENSP00000359530:E239K	ENSP00000315252:E239K	E	-	1	0	COL9A1	71027086	0.994000	0.37717	0.956000	0.39512	0.932000	0.56968	3.459000	0.53021	2.775000	0.95449	0.655000	0.94253	GAA	COL9A1	-	pfam_Collagen	ENSG00000112280		0.333	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	-	0	86	0	C			70970365	-1	tier1	-	no_errors	ENST00000357250	ensembl	human	known	74_37	missense	34.21	49	26	SNP	0.981	T	T	70970365	C	T	70970365	3	4	9	1	0	0	0	0	1	0	0	0	3714	864	30	3	1397	3	COL9A1	6	70970365	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	14595847	70970365	100144702	67	2471											
MYO6	4646	genome.wustl.edu	37	chr6	76602272	76602272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggaggcacagctggcccGacagaaggaggaggaatccc	12	3	16	10	1	0	1	0	0	0	1	1	6	1	5	2	6	1	2	2	6	2	0	rs529167250		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:76602272G>A	ENST00000369977.3	+	28	3111	c.2972G>A	c.(2971-2973)cGa>cAa	p.R991Q	MYO6_ENST00000369985.4_Missense_Mutation_p.R991Q|MYO6_ENST00000369975.1_Missense_Mutation_p.R991Q|MYO6_ENST00000369981.3_Missense_Mutation_p.R991Q	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	991	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGCTGGCCCGACAGAAGGAG	0.532													G|||	1	0.000199681	0	0	5008	,	,		16038	0.001		0	False		,,,				2504	0																0													100	109	106					6																	76602272		2203	4300	6503	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2972G>A	6.37:g.76602272G>A	ENSP00000358994:p.Arg991Gln		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R991Q	ENST00000369977.3	37	c.2972	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527969	0.27299	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.57436	2.14;2.6;2.6;2.14;0.4	5.75	3.97	0.46021	.	0.350255	0.33477	N	0.004873	T	0.33381	0.0861	L	0.61218	1.895	0.09310	N	1	B;P	0.37781	0.049;0.608	B;B	0.37267	0.015;0.245	T	0.18398	-1.0338	10	0.54805	T	0.06	.	11.8787	0.52562	0.1401:0.0:0.8599:0.0	.	991;991	Q9UM54-2;Q9UM54-1	.;.	Q	991;991;991;991;991;54	ENSP00000358998:R991Q;ENSP00000359002:R991Q;ENSP00000358994:R991Q;ENSP00000358992:R991Q;ENSP00000399406:R54Q	ENSP00000358992:R991Q	R	+	2	0	MYO6	76658992	0.031000	0.19500	0.018000	0.16275	0.286000	0.27126	0.655000	0.24933	1.448000	0.47680	0.491000	0.48974	CGA	MYO6	-	NULL	ENSG00000196586		0.532	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	-	0	73	0	G	NM_004999		76602272	1	tier1	-	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.011	A	A	76602272	G	A	76602272	3	1	9	1	0	0	0	0	1	0	0	0	10119	1058	37	1	3078	1	MYO6	6	76602272	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5631907	76602272	94512795	68	2472											
ANKRD6	22881	genome.wustl.edu	37	chr6	90334314	90334314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaagctggagaatcagttGgaggctactgtggaggagat	13	8	15	5	0	1	2	1	0	0	2	1	6	1	4	0	5	3	3	0	5	4	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr6:90334314G>T	ENST00000522441.1	+	13	1916	c.1275G>T	c.(1273-1275)ttG>ttT	p.L425F	LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.L366F|ANKRD6_ENST00000447838.2_Missense_Mutation_p.L425F|ANKRD6_ENST00000339746.4_Missense_Mutation_p.L425F|ANKRD6_ENST00000369408.5_Missense_Mutation_p.L390F	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	425					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGAATCAGTTGGAGGCTACTG	0.433																																																	0													64	61	62					6																	90334314		1903	4115	6018	SO:0001583	missense	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1275G>T	6.37:g.90334314G>T	ENSP00000430985:p.Leu425Phe		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L425F	ENST00000522441.1	37	c.1275	CCDS56441.1	6	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185887	0.78789	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000522441;ENST00000518150;ENST00000520793	T;T;T;T;T	0.76060	0.52;0.52;0.51;0.52;-0.99	5.99	5.12	0.69794	.	0.000000	0.44097	D	0.000481	T	0.81437	0.4822	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.986;0.999;0.999;0.991	D	0.84674	0.0713	10	0.87932	D	0	-8.4015	15.2166	0.73270	0.067:0.0:0.933:0.0	.	366;425;390;425	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	F	390;425;425;425;166;366	ENSP00000358416:L390F;ENSP00000345767:L425F;ENSP00000396771:L425F;ENSP00000430985:L425F;ENSP00000429782:L366F	ENSP00000345767:L425F	L	+	3	2	ANKRD6	90391035	1.000000	0.71417	0.996000	0.52242	0.676000	0.39594	6.095000	0.71439	1.545000	0.49373	0.655000	0.94253	TTG	ANKRD6	-	NULL	ENSG00000135299		0.433	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1		0	87	0	G			90334314	1			no_errors	ENST00000339746	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	90334314	G	T	90334314	3	4	9	1	0	0	0	0	1	0	0	0	685	1339	47	3	1321	3	ANKRD6	6	90334314	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	13732042	90334314	80780753	69	2473											
INTS1	26173	genome.wustl.edu	37	chr7	1536943	1536943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggtcctggaacaccatgGccaggaactggggcagagag	11	4	16	10	0	0	1	0	0	0	1	1	4	1	3	3	6	2	2	3	6	2	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:1536943G>A	ENST00000404767.3	-	11	1518	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	INTS1_ENST00000389470.4_Missense_Mutation_p.A606V|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	478					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GAACACCATGGCCAGGAACTG	0.652																																																	0													32	35	34					7																	1536943		2033	4179	6212	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1433C>T	7.37:g.1536943G>A	ENSP00000385722:p.Ala478Val		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A606V	ENST00000404767.3	37	c.1817	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838823	0.71373	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.68331	2.62;-0.32	5.29	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.81123	0.4757	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.83875	0.0276	10	0.87932	D	0	.	15.4702	0.75434	0.0:0.0:0.8605:0.1395	.	478	Q8N201	INT1_HUMAN	V	478;606	ENSP00000385722:A478V;ENSP00000374121:A606V	ENSP00000374121:A606V	A	-	2	0	INTS1	1503469	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.626000	0.98410	1.218000	0.43458	0.655000	0.94253	GCC	INTS1	-	NULL	ENSG00000164880		0.652	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0	25	0	G			1536943	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A	A	1536943	G	A	1536943	3	1	9	1	0	0	0	0	1	0	0	0	7802	1203	42	3	5291	3	INTS1	7	1536943	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		1536943	157601720	70	2474											
KIAA0415	9907	genome.wustl.edu	37	chr7	4824612	4824612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccggccgcctgctgccGccccgggagcggcttcggga	2	6	16	17	6	1	0	0	0	1	0	2	2	1	2	6	4	4	2	6	4	0	1	rs372643577	byFrequency	TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:4824612G>A	ENST00000348624.4	+	7	958	c.864G>A	c.(862-864)ccG>ccA	p.P288P	AP5Z1_ENST00000401897.1_Silent_p.P288P	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	288					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCTGCTGCCGCCCCGGGAGC	0.672													G|||	2	0.000399361	0	0	5008	,	,		14509	0		0	False		,,,				2504	0.002																0								G		0,3836		0,0,1918	14	18	17		864	-1.6	0.3	7		17	1,8171		0,1,4085	no	coding-synonymous	KIAA0415	NM_014855.2		0,1,6003	AA,AG,GG		0.0122,0.0,0.0083		288/808	4824612	1,12007	1918	4086	6004	SO:0001819	synonymous_variant	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.864G>A	7.37:g.4824612G>A			Q8N3X2|Q96H80	Silent	SNP	NULL	p.P288	ENST00000348624.4	37	c.864	CCDS47528.1	7																																																																																			AP5Z1	-	NULL	ENSG00000242802		0.672	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	-	0	67	0	G			4824612	1	tier1	-	no_errors	ENST00000348624	ensembl	human	known	74_37	silent	32.18	57	28	SNP	0.997	A	A	4824612	G	A	4824612	2	1	9	1	0	0	0	0	0	0	0	1	8202	1074	38	1		1	KIAA0415	7	4824612	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	3287669	4824612	154314051	71	2475											
FAM188B	84182	genome.wustl.edu	37	chr7	30893033	30893033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcttcacagtttgacctgCtatgaggacctggtgacttt	8	13	10	10	1	1	3	1	3	0	0	1	4	1	4	2	2	1	3	2	2	1	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:30893033C>T	ENST00000265299.6	+	12	1712	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000434909.2_5'UTR|AQP1_ENST00000509504.1_Silent_p.C8C	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	545										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTTGACCTGCTATGAGGACC	0.498																																																	0													119	118	118					7																	30893033		2011	4184	6195	SO:0001819	synonymous_variant	0			AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 67"	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1635C>T	7.37:g.30893033C>T			Q71AZ7|Q9H6D2	Silent	SNP	NULL	p.C545	ENST00000265299.6	37	c.1635	CCDS43565.1	7																																																																																			FAM188B	-	NULL	ENSG00000106125		0.498	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM188B	HGNC	protein_coding	OTTHUMT00000327962.1		0	49	0	C	NM_032222		30893033	1			no_errors	ENST00000265299	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.996	T	T	30893033	C	T	30893033	2	4	9	1	0	0	0	0	0	0	0	1	5534	805	28	3		3	FAM188B	7	30893033	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	26068421	30893033	128245630	72	2476											
CDK13	8621	genome.wustl.edu	37	chr7	40027419	40027419	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagctgcagaagcaactaAggctgctgaggctgctgcca	12	6	13	10	0	0	2	0	1	0	1	0	3	0	2	1	2	7	7	1	2	4	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:40027419A>C	ENST00000181839.4	+	2	2038	c.1433A>C	c.(1432-1434)aAg>aCg	p.K478T	CDK13_ENST00000340829.5_Missense_Mutation_p.K478T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	478					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						gaagcaacTAAGGCTGCTGAG	0.502																																																	0													40	40	40					7																	40027419		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1433A>C	7.37:g.40027419A>C	ENSP00000181839:p.Lys478Thr		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K478T	ENST00000181839.4	37	c.1433	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	A	13.60	2.284791	0.40394	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.71103	-0.52;-0.54	4.56	4.56	0.56223	.	.	.	.	.	T	0.71702	0.3371	N	0.22421	0.69	0.40848	D	0.983721	D;D	0.61080	0.989;0.981	D;D	0.70487	0.969;0.932	T	0.70528	-0.4847	8	.	.	.	-11.8986	12.2684	0.54691	1.0:0.0:0.0:0.0	.	478;478	Q14004-2;Q14004	.;CDK13_HUMAN	T	478	ENSP00000181839:K478T;ENSP00000340557:K478T	.	K	+	2	0	CDK13	39993944	1.000000	0.71417	0.975000	0.42487	0.905000	0.53344	4.440000	0.59975	2.280000	0.76307	0.460000	0.39030	AAG	CDK13	-	NULL	ENSG00000065883		0.502	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	-	0	27	0	A	NM_003718		40027419	1	tier1	-	no_errors	ENST00000181839	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.989	C	C	40027419	A	C	40027419	3	2	9	1	0	0	0	0	1	0	0	0	3136	72	3	4	1439	4	CDK13	7	40027419	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	9134386	40027419	119111244	73	2477											
CCDC132	55610	genome.wustl.edu	37	chr7	92970741	92970741	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctattgtattttcaggaAgtttcagctgatcctactgc	9	17	7	8	0	3	1	2	1	1	0	4	2	4	2	1	1	3	3	1	1	5	8			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:92970741A>C	ENST00000305866.5	+	23	2189	c.2061A>C	c.(2059-2061)gaA>gaC	p.E687D	CCDC132_ENST00000535481.1_Missense_Mutation_p.E407D|CCDC132_ENST00000544910.1_Missense_Mutation_p.E657D|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_Missense_Mutation_p.E498D	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	687						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTTTCAGGAAGTTTCAGCTG	0.383																																																	0													87	88	87					7																	92970741		1933	4136	6069	SO:0001583	missense	0			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2061A>C	7.37:g.92970741A>C	ENSP00000307666:p.Glu687Asp		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.E687D	ENST00000305866.5	37	c.2061	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523536	0.27299	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.55	-3.14	0.05250	.	0.172037	0.52532	D	0.000063	T	0.44265	0.1285	L	0.55481	1.735	0.80722	D	1	B;B;B	0.29590	0.162;0.25;0.162	B;B;B	0.30572	0.055;0.117;0.055	T	0.10847	-1.0612	9	0.39692	T	0.17	-19.0119	7.1677	0.25700	0.3537:0.0:0.5147:0.1316	.	407;657;687	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	D	687;657;498;407	.	ENSP00000307666:E687D	E	+	3	2	CCDC132	92808677	1.000000	0.71417	0.989000	0.46669	0.005000	0.04900	1.480000	0.35464	-0.351000	0.08249	-1.140000	0.01884	GAA	CCDC132	-	NULL	ENSG00000004766		0.383	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	-	0	68	0	A	NM_017667		92970741	1	tier1	-	no_errors	ENST00000305866	ensembl	human	known	74_37	missense	17.33	62	13	SNP	1.000	C	C	92970741	A	C	92970741	3	2	9	1	0	0	0	0	1	0	0	0	2774	69	3	4	2193	4	CCDC132	7	92970741	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	52943322	92970741	66167922	74	2478											
LAMB1	3912	genome.wustl.edu	37	chr7	107569652	107569652	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatctgttgcacttttgcTgagtaaaaaataatgagaca	16	12	7	6	0	1	2	0	2	1	1	1	3	1	2	0	0	3	4	0	0	5	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:107569652T>G	ENST00000222399.6	-	31	4976		c.e31-2		LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Splice_Site	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GCACTTTTGCTGAGTAAAAAA	0.388																																																	0													118	112	114					7																	107569652		2203	4300	6503	SO:0001630	splice_region_variant	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4746-2A>C	7.37:g.107569652T>G			Q14D91	Splice_Site	SNP	-	e30-2	ENST00000222399.6	37	c.4746-2	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509945	0.64522	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4532	0.75294	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMB1	107356888	1.000000	0.71417	0.990000	0.47175	0.763000	0.43281	5.276000	0.65580	2.238000	0.73509	0.533000	0.62120	.	LAMB1	-	-	ENSG00000091136		0.388	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	-	0	83	0	T	NM_002291	Intron	107569652	-1	tier1	-	no_errors	ENST00000222399	ensembl	human	known	74_37	splice_site	76.27	14	45	SNP	1.000	G	G	107569652	T	G	107569652	5	3	9	1	0	0	0	0	0	0	1	0	8638	1594	55	4	632	4	LAMB1	7	107569652	Splice_Site	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	14598911	107569652	51569011	75	2479											
KCND2	3751	genome.wustl.edu	37	chr7	119915600	119915600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatctttaagttttcccGccactctcaaggcctgcgca	8	11	8	14	2	2	0	1	0	2	0	4	1	3	1	3	2	1	2	3	2	2	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:119915600G>T	ENST00000331113.4	+	1	1879	c.914G>T	c.(913-915)cGc>cTc	p.R305L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	305					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AAGTTTTCCCGCCACTCTCAA	0.512																																																	0													77	69	72					7																	119915600		2203	4300	6503	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.914G>T	7.37:g.119915600G>T	ENSP00000333496:p.Arg305Leu		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R305L	ENST00000331113.4	37	c.914	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658000	0.88154	.	.	ENSG00000184408	ENST00000331113	D	0.98747	-5.11	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98080	1.0403	9	.	.	.	.	19.5371	0.95257	0.0:0.0:1.0:0.0	.	305	Q9NZV8	KCND2_HUMAN	L	305	ENSP00000333496:R305L	.	R	+	2	0	KCND2	119702836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.706000	0.92434	0.557000	0.71058	CGC	KCND2	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv	ENSG00000184408		0.512	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1		0	56	0	G	NM_012281		119915600	1			no_errors	ENST00000331113	ensembl	human	known	74_37	missense	6.67	41	3	SNP	1.000	T	T	119915600	G	T	119915600	3	4	9	1	0	0	0	0	1	0	0	0	8046	1087	38	2	916	2	KCND2	7	119915600	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	12345948	119915600	39223063	76	2480											
GRM8	2918	genome.wustl.edu	37	chr7	126173499	126173499	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcggaaggagcatatgAttgtatctggtgctgcaatc	9	11	12	9	2	1	1	0	1	1	0	3	3	1	3	1	3	3	4	1	3	4	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:126173499A>T	ENST00000339582.2	-	9	2745	c.1937T>A	c.(1936-1938)aTc>aAc	p.I646N	GRM8_ENST00000358373.3_Missense_Mutation_p.I646N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.I646N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	646					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGAGCATATGATTGTATCTGG	0.458										HNSCC(24;0.065)																																							0													88	88	88					7																	126173499		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1937T>A	7.37:g.126173499A>T	ENSP00000344173:p.Ile646Asn		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.I646N	ENST00000339582.2	37	c.1937	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	A	12.17	1.856719	0.32791	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88509	-2.39;-2.39;-2.39	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.295498	0.37219	N	0.002190	D	0.87609	0.6220	L	0.46157	1.445	0.80722	D	1	B;B	0.27013	0.027;0.166	B;B	0.35182	0.021;0.197	D	0.85246	0.1041	10	0.45353	T	0.12	.	15.2424	0.73480	1.0:0.0:0.0:0.0	.	646;646	O00222-2;O00222	.;GRM8_HUMAN	N	646	ENSP00000344173:I646N;ENSP00000409790:I646N;ENSP00000351142:I646N	ENSP00000344173:I646N	I	-	2	0	GRM8	125960735	0.389000	0.25205	0.991000	0.47740	0.993000	0.82548	1.122000	0.31295	2.206000	0.71126	0.533000	0.62120	ATC	GRM8	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000179603		0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0	46	0	A			126173499	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	58.06	13	18	SNP	0.995	T	T	126173499	A	T	126173499	3	4	9	1	0	0	0	0	1	0	0	0	6830	333	12	5	851	5	GRM8	7	126173499	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	6257899	126173499	32965164	77	2481											
SMO	6608	genome.wustl.edu	37	chr7	128845505	128845505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaccctgctgttattctcTtctacgtcaatgcgtgcttc	5	16	7	13	2	3	0	1	0	2	0	5	0	3	0	1	0	5	4	1	0	4	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:128845505T>C	ENST00000249373.3	+	4	1082	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	268					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	TGTTATTCTCTTCTACGTCAA	0.552			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													118	112	114					7																	128845505		2203	4300	6503	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.802T>C	7.37:g.128845505T>C	ENSP00000249373:p.Phe268Leu		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F268L	ENST00000249373.3	37	c.802	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	T	24.2	4.501840	0.85176	.	.	ENSG00000128602	ENST00000249373	T	0.80824	-1.42	5.57	5.57	0.84162	GPCR, family 2-like (1);	0.093062	0.85682	D	0.000000	T	0.79516	0.4459	L	0.60067	1.865	0.80722	D	1	B	0.25563	0.129	B	0.30782	0.12	T	0.77270	-0.2650	10	0.49607	T	0.09	.	14.8984	0.70659	0.0:0.0:0.0:1.0	.	268	Q99835	SMO_HUMAN	L	268	ENSP00000249373:F268L	ENSP00000249373:F268L	F	+	1	0	SMO	128632741	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.982000	0.88131	2.117000	0.64856	0.402000	0.26972	TTC	SMO	-	pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000128602		0.552	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	-	0	40	0	T	NM_005631		128845505	1	tier1	-	no_errors	ENST00000249373	ensembl	human	known	74_37	missense	80.49	8	33	SNP	1.000	C	C	128845505	T	C	128845505	3	2	9	1	0	0	0	0	1	0	0	0	14845	1609	56	4	816	4	SMO	7	128845505	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	2672006	128845505	30293158	78	2482											
MKLN1	4289	genome.wustl.edu	37	chr7	131149111	131149111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccaactaaaagtcttcagGaagaagaaccatgtccaagg	17	7	8	9	0	2	2	1	0	1	2	4	3	4	3	3	2	2	0	3	2	7	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:131149111G>T	ENST00000352689.6	+	14	1772	c.1732G>T	c.(1732-1734)Gaa>Taa	p.E578*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.E486*|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	578					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AAGTCTTCAGGAAGAAGAACC	0.403																																																	0													142	123	129					7																	131149111		2203	4300	6503	SO:0001587	stop_gained	0			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1732G>T	7.37:g.131149111G>T	ENSP00000323527:p.Glu578*		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E578*	ENST00000352689.6	37	c.1732	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.284837	0.98742	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-19.6082	19.2671	0.93993	0.0:0.0:1.0:0.0	.	.	.	.	X	486;578;68	.	ENSP00000323527:E578X	E	+	1	0	MKLN1	130799651	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.150000	0.94667	2.788000	0.95919	0.650000	0.86243	GAA	MKLN1	-	NULL	ENSG00000128585		0.403	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	-	0	60	0	G	NM_013255		131149111	1	tier1	-	no_errors	ENST00000352689	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	T	T	131149111	G	T	131149111	4	4	9	1	0	0	0	0	0	1	0	0	9641	1175	41	3	1819	3	MKLN1	7	131149111	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2303606	131149111	27989552	79	2483											
OR2A1	346528	genome.wustl.edu	37	chr7	144015712	144015712	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttctcatcctaagactGcccttctctgggcctcatga	6	13	9	13	0	3	2	2	1	2	1	6	2	4	2	3	2	1	1	3	2	1	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:144015712G>T	ENST00000408951.1	+	1	495	c.495G>T	c.(493-495)ctG>ctT	p.L165L	OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					TCCTAAGACTGCCCTTCTCTG	0.567																																																	0													6	6	6					7																	144015712		1606	3678	5284	SO:0001819	synonymous_variant	0				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"GPCR / Class A : Olfactory receptors"	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.495G>T	7.37:g.144015712G>T			Q6IF44|Q96R46	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L165	ENST00000408951.1	37	c.495	CCDS43673.1	7																																																																																			OR2A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221970		0.567	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A1	HGNC	protein_coding	OTTHUMT00000349985.1	-	0	21	0	G			144015712	1	tier1	-	no_errors	ENST00000408951	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.823	T	T	144015712	G	T	144015712	2	4	9	1	0	0	0	0	0	0	0	1	11013	1306	46	3		3	OR2A1	7	144015712	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	12866601	144015712	15122951	80	2484											
SSPO	23145	genome.wustl.edu	37	chr7	149518163	149518163	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccactggtcggcctggaGtccctgcagccactcatgcg	6	7	13	15	2	1	0	1	0	0	0	3	2	2	1	4	3	4	1	4	3	0	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:149518163G>T	ENST00000378016.2	+	0	12506							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCGGCCTGGAGTCCCTGCAGC	0.682																																																	0													4	6	6					7																	149518163		1903	4025	5928			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518163G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.682	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	9	0	G			149518163	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	57.14	3	4	SNP	0.998	T	T	149518163	G	T	149518163	1	4	9	0	1	0	0	0	0	0	0	0	15236	1029	36	3		3	SSPO	7	149518163	RNA	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5502451	149518163	9620500	81	2485											
NUB1	51667	genome.wustl.edu	37	chr7	151042544	151042544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaataaaaaagttggtttgGcattaaaggtatttttcttt	15	17	7	2	0	1	0	0	0	1	0	1	0	1	0	0	3	0	4	0	3	8	8			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:151042544G>A	ENST00000355851.4	+	2	186	c.109G>A	c.(109-111)Gca>Aca	p.A37T	NUB1_ENST00000413040.2_Missense_Mutation_p.A61T|NUB1_ENST00000566856.1_Missense_Mutation_p.A37T|NUB1_ENST00000568733.1_Missense_Mutation_p.A61T	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	37					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGTTGGTTTGGCATTAAAGGT	0.303																																																	0													47	46	46					7																	151042544		1797	4071	5868	SO:0001583	missense	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.109G>A	7.37:g.151042544G>A	ENSP00000348110:p.Ala37Thr		O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A61T	ENST00000355851.4	37	c.181		7	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471204	0.63625	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.47528	0.84;0.84;0.84	5.38	5.38	0.77491	.	0.464508	0.23700	N	0.045427	T	0.41373	0.1156	L	0.36672	1.1	0.34404	D	0.695572	D;B;B	0.53745	0.962;0.046;0.045	B;B;B	0.43536	0.423;0.014;0.031	T	0.50398	-0.8833	10	0.22109	T	0.4	-10.8389	16.6565	0.85230	0.0:0.0:1.0:0.0	.	37;37;37	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	T	37	ENSP00000348110:A37T;ENSP00000418234:A37T;ENSP00000420086:A37T	ENSP00000348110:A37T	A	+	1	0	NUB1	150673477	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.724000	0.68500	2.515000	0.84797	0.655000	0.94253	GCA	NUB1	-	NULL	ENSG00000013374		0.303	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding			0	66	0	G	NM_016118		151042544	1			no_errors	ENST00000568733	ensembl	human	known	74_37	missense	5.19	72	4	SNP	1.000	A	A	151042544	G	A	151042544	3	1	9	1	0	0	0	0	1	0	0	0	10753	1203	42	3	111	3	NUB1	7	151042544	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1524381	151042544	8096119	82	2486											
PTPRN2	5799	genome.wustl.edu	37	chr7	157475486	157475486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttctccttcagcctgtgCtgagagctatggcggaggca	7	10	13	11	1	2	1	1	1	1	1	3	3	2	2	2	3	4	4	2	3	1	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr7:157475486C>T	ENST00000389418.4	-	13	1941	c.1932G>A	c.(1930-1932)caG>caA	p.Q644Q	PTPRN2_ENST00000409483.1_Silent_p.Q606Q|PTPRN2_ENST00000404321.2_Silent_p.Q667Q|PTPRN2_ENST00000389416.4_Silent_p.Q627Q|PTPRN2_ENST00000389413.3_Silent_p.Q615Q	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	644					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCCTGTGCTGAGAGCTAT	0.587																																																	0													92	102	99					7																	157475486		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1932G>A	7.37:g.157475486C>T			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Q667	ENST00000389418.4	37	c.2001	CCDS5947.1	7																																																																																			PTPRN2	-	NULL	ENSG00000155093		0.587	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	-	0	49	0	C			157475486	-1	tier1	-	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	8.33	43	4	SNP	0.961	T	T	157475486	C	T	157475486	2	4	9	1	0	0	0	0	0	0	0	1	12853	796	28	3		3	PTPRN2	7	157475486	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	6432942	157475486	1663177	83	2487											
MTMR9	66036	genome.wustl.edu	37	chr8	11180257	11180257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccttcgaaggcagttggCagaactggaaacagaggacg	13	7	13	8	2	0	2	0	0	0	2	2	5	1	4	1	4	2	3	1	4	4	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr8:11180257C>T	ENST00000221086.3	+	10	2083	c.1610C>T	c.(1609-1611)gCa>gTa	p.A537V	MTMR9_ENST00000526292.1_Missense_Mutation_p.A452V|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	537						cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AGGCAGTTGGCAGAACTGGAA	0.453																																																	0													78	76	77					8																	11180257		2203	4300	6503	SO:0001583	missense	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1610C>T	8.37:g.11180257C>T	ENSP00000221086:p.Ala537Val		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom	p.A537V	ENST00000221086.3	37	c.1610	CCDS5979.1	8	.	.	.	.	.	.	.	.	.	.	C	8.164	0.790117	0.16258	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.95205	-3.56;-3.64	5.7	4.82	0.62117	.	0.047211	0.85682	D	0.000000	D	0.92090	0.7493	L	0.53617	1.68	0.80722	D	1	B	0.15719	0.014	B	0.14023	0.01	D	0.88754	0.3252	10	0.37606	T	0.19	.	13.7223	0.62735	0.0:0.9263:0.0:0.0737	.	537	Q96QG7	MTMR9_HUMAN	V	537;452	ENSP00000221086:A537V;ENSP00000433239:A452V	ENSP00000221086:A537V	A	+	2	0	MTMR9	11217667	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.607000	0.67648	1.409000	0.46915	0.655000	0.94253	GCA	MTMR9	-	NULL	ENSG00000104643		0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	-	0	61	0	C	NM_015458		11180257	1	tier1	-	no_errors	ENST00000221086	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	11180257	C	T	11180257	3	4	9	1	0	0	0	0	1	0	0	0	9988	710	25	3	1648	3	MTMR9	8	11180257	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		11180257	135183765	84	2488											
TCEA1	6917	genome.wustl.edu	37	chr8	54906287	54906287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttctttcttcttttcGtcaaggtctttctcagttga	5	19	8	9	1	6	1	2	1	5	0	8	1	6	1	0	2	0	3	0	2	1	7			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr8:54906287G>A	ENST00000521604.2	-	4	664	c.261C>T	c.(259-261)gaC>gaT	p.D87D	TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000396401.3_Silent_p.D66D|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000520534.1_Silent_p.D87D	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	87					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			TCTTCTTTTCGTCAAGGTCTT	0.353			T	PLAG1	salivary adenoma																																			Dom	yes		8	8q11.2	6917	"transcription elongation factor A (SII), 1"		E	0													196	182	186					8																	54906287		1824	4085	5909	SO:0001819	synonymous_variant	0			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"General transcription factors"	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.261C>T	8.37:g.54906287G>A			A6NF25|A8K339|Q15563|Q6FG87	Silent	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.D87	ENST00000521604.2	37	c.261	CCDS47858.1	8																																																																																			TCEA1	-	superfamily_TFIIS_N,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000187735		0.353	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA1	HGNC	protein_coding	OTTHUMT00000377975.2	-	0	45	0	G	NM_006756		54906287	-1	tier1	-	no_errors	ENST00000521604	ensembl	human	known	74_37	silent	36.92	41	24	SNP	1.000	A	A	54906287	G	A	54906287	2	1	9	1	0	0	0	0	0	0	0	1	15714	1136	40	1		1	TCEA1	8	54906287	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	43726030	54906287	91457735	85	2489											
SOX17	64321	genome.wustl.edu	37	chr8	55372131	55372131	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcccatgcacccccgacTcggcccagagcccgcgggtc	5	4	12	20	5	0	1	0	0	0	1	3	2	1	1	5	3	2	1	5	3	0	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr8:55372131T>G	ENST00000297316.4	+	2	1025	c.821T>G	c.(820-822)cTc>cGc	p.L274R		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	274					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CACCCCCGACTCGGCCCAGAG	0.766																																																	0													2	2	2					8																	55372131		1289	2853	4142	SO:0001583	missense	0			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.821T>G	8.37:g.55372131T>G	ENSP00000297316:p.Leu274Arg			Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.L274R	ENST00000297316.4	37	c.821	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	T	9.446	1.089231	0.20390	.	.	ENSG00000164736	ENST00000297316	T	0.75938	-0.98	4.44	3.11	0.35812	.	0.386732	0.25494	N	0.030299	T	0.64538	0.2607	L	0.40543	1.245	0.09310	N	1	P	0.38250	0.624	B	0.41332	0.354	T	0.52779	-0.8530	10	0.16896	T	0.51	.	10.4022	0.44235	0.1576:0.0:0.0:0.8424	.	274	Q9H6I2	SOX17_HUMAN	R	274	ENSP00000297316:L274R	ENSP00000297316:L274R	L	+	2	0	SOX17	55534684	0.000000	0.05858	0.743000	0.31040	0.112000	0.19704	0.358000	0.20216	1.630000	0.50440	0.374000	0.22700	CTC	SOX17	-	pfam_Sox_C_TAD	ENSG00000164736		0.766	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	-	0	18	0	T			55372131	1	tier1	-	no_errors	ENST00000297316	ensembl	human	known	74_37	missense	55.56	8	10	SNP	0.023	G	G	55372131	T	G	55372131	3	3	9	1	0	0	0	0	1	0	0	0	14992	1551	54	4	827	4	SOX17	8	55372131	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	465844	55372131	90991891	86	2490											
RP1	6101	genome.wustl.edu	37	chr8	55540273	55540273	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagacatgtaaccccagTgacactttttttcctagtga	13	12	7	9	0	0	3	0	2	0	1	1	4	1	3	3	0	1	1	3	0	3	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr8:55540273T>G	ENST00000220676.1	+	4	3979	c.3831T>G	c.(3829-3831)agT>agG	p.S1277R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1277					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTAACCCCAGTGACACTTTTT	0.418																																					Colon(91;1014 1389 7634 14542 40420)												0													155	152	153					8																	55540273		2203	4300	6503	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3831T>G	8.37:g.55540273T>G	ENSP00000220676:p.Ser1277Arg			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S1277R	ENST00000220676.1	37	c.3831	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	T	5.316	0.243590	0.10077	.	.	ENSG00000104237	ENST00000220676	T	0.25414	1.8	5.38	-4.12	0.03916	.	0.926684	0.09173	N	0.838552	T	0.14527	0.0351	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.33854	-0.9852	10	0.72032	D	0.01	.	2.1525	0.03803	0.1268:0.1573:0.3908:0.3251	.	1277	P56715	RP1_HUMAN	R	1277	ENSP00000220676:S1277R	ENSP00000220676:S1277R	S	+	3	2	RP1	55702826	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.467000	0.06664	-0.633000	0.05545	0.533000	0.62120	AGT	RP1	-	NULL	ENSG00000104237		0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	102	0	T	NM_006269		55540273	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	36.46	61	35	SNP	0.000	G	G	55540273	T	G	55540273	3	3	9	1	0	0	0	0	1	0	0	0	13577	1693	59	4	3841	4	RP1	8	55540273	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	168142	55540273	90823749	87	2491											
TRAM1	23471	genome.wustl.edu	37	chr8	71520334	71520335	+	Frame_Shift_Ins	INS	-	-	AGAC																															aaacatgagccccagcaggaINSagaccatcgccacacaggag																										TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr8:71520334_71520335insAGAC	ENST00000262213.2	-	1	269_270	c.100_101insGTCT	c.(100-102)ttcfs	p.F34fs	TRAM1_ENST00000521049.1_5'UTR|RP11-382J12.1_ENST00000499227.2_5'Flank|TRAM1_ENST00000536748.1_Frame_Shift_Ins_p.F3fs|TRAM1_ENST00000521425.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	34					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CCCCAGCAGGAAGACCATCGCC	0.653																																					Ovarian(85;984 1334 5116 12432 40638)												0																																										SO:0001589	frameshift_variant	0			X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.97_100dupGTCT	8.37:g.71520335_71520338dupAGAC	ENSP00000262213:p.Phe34fs		B4E0K2	Frame_Shift_Ins	INS	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.F34fs	ENST00000262213.2	37	c.101_100	CCDS6207.1	8																																																																																			TRAM1	-	pirsf_Translocation_assoc_membrane	ENSG00000067167		0.653	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1	HGNC	protein_coding	OTTHUMT00000378738.1		0	128	0	-	NM_014294		71520335	-1	tier1		no_errors	ENST00000262213	ensembl	human	known	74_37	frame_shift_ins	28.93	86	35	INS	1.000:1.000	AGAC	AGAC	71520335	-	AGAC	71520334	7	5	9	1	0	1	1	0	0	0	0	0	16499	246	9	0	1067	0	TRAM1	8	71520334	Frame_Shift_Ins	INS	-	TCGA-2H-A9GN-01A-11D-A37C-09	15980061	71520334	74843688	88	2492											
KIAA1429	25962	genome.wustl.edu	37	chr8	95538801	95538801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacaagacttcatagaaatgGcatttttggagaatagctga	15	11	10	5	0	1	4	1	1	0	3	1	6	1	4	0	2	1	2	0	2	5	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr8:95538801G>A	ENST00000297591.5	-	8	1746	c.1671C>T	c.(1669-1671)tgC>tgT	p.C557C	KIAA1429_ENST00000421249.2_Silent_p.C557C|KIAA1429_ENST00000437199.1_Silent_p.C557C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	557					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CATAGAAATGGCATTTTTGGA	0.403																																																	0													115	114	114					8																	95538801		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1671C>T	8.37:g.95538801G>A			Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	superfamily_ARM-type_fold	p.C557	ENST00000297591.5	37	c.1671	CCDS34923.1	8																																																																																			KIAA1429	-	NULL	ENSG00000164944		0.403	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2		0	55	0	G	NM_015496		95538801	-1			no_errors	ENST00000297591	ensembl	human	known	74_37	silent	5.08	56	3	SNP	1.000	A	A	95538801	G	A	95538801	2	1	9	1	0	0	0	0	0	0	0	1	8258	1195	42	3		3	KIAA1429	8	95538801	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	24018467	95538801	50825221	89	2493											
KHDRBS3	10656	genome.wustl.edu	37	chr8	136533590	136533590	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttaattcccgtaaaacagTtccctaaggtaagacagtga	14	11	8	8	1	0	2	0	1	0	1	2	2	2	2	2	1	1	4	2	1	5	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr8:136533590T>G	ENST00000355849.5	+	2	609	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.F40V	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	67	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			CGTAAAACAGTTCCCTAAGGT	0.373																																																	0													103	93	96					8																	136533590		2203	4300	6503	SO:0001583	missense	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.199T>G	8.37:g.136533590T>G	ENSP00000348108:p.Phe67Val		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	smart_KH_dom	p.F67V	ENST00000355849.5	37	c.199	CCDS6374.1	8	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752334	0.69533	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000520981;ENST00000517394	T;T;T;T	0.41400	2.25;2.25;1.0;2.25	5.81	5.81	0.92471	K Homology (1);	0.044508	0.85682	D	0.000000	T	0.47488	0.1448	L	0.41492	1.28	0.32601	N	0.525858	P;B	0.50528	0.936;0.165	P;B	0.51415	0.669;0.183	T	0.61272	-0.7096	10	0.72032	D	0.01	-24.5174	15.3502	0.74376	0.0:0.0:0.0:1.0	.	67;67	O75525-2;O75525	.;KHDR3_HUMAN	V	67;39;40;40	ENSP00000348108:F67V;ENSP00000431022:F39V;ENSP00000428607:F40V;ENSP00000430284:F40V	ENSP00000348108:F67V	F	+	1	0	KHDRBS3	136602772	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.635000	0.83286	2.213000	0.71641	0.533000	0.62120	TTC	KHDRBS3	-	smart_KH_dom	ENSG00000131773		0.373	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1	-	0	60	0	T			136533590	1	tier1	-	no_errors	ENST00000355849	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	G	G	136533590	T	G	136533590	3	3	9	1	0	0	0	0	1	0	0	0	8175	1725	60	4	205	4	KHDRBS3	8	136533590	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	40994789	136533590	9830432	90	2494											
KDM4C	23081	genome.wustl.edu	37	chr9	6805609	6805609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttaggtgattcctcCtaaggagtggaagccaagac	11	13	10	7	0	0	2	0	1	0	1	2	4	2	4	3	3	1	0	3	3	5	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:6805609C>A	ENST00000381309.3	+	3	720	c.155C>A	c.(154-156)cCt>cAt	p.P52H	KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000401787.3_Missense_Mutation_p.P52H|KDM4C_ENST00000535193.1_Missense_Mutation_p.P74H|KDM4C_ENST00000543771.1_Missense_Mutation_p.P52H|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.P52H	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	52	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.P52L(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTGATTCCTCCTAAGGAGTGG	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											64	61	62					9																	6805609		2203	4300	6503	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.155C>A	9.37:g.6805609C>A	ENSP00000370710:p.Pro52His		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.P52H	ENST00000381309.3	37	c.155	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762404	0.89932	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51	5.72	5.72	0.89469	Transcription factor jumonji, JmjN (2);	0.058147	0.64402	D	0.000001	D	0.84124	0.5403	H	0.98133	4.155	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0	D	0.89612	0.3842	10	0.87932	D	0	-30.6787	19.9401	0.97155	0.0:1.0:0.0:0.0	.	52;52;52;74;52;52	F5H347;B4E1Y4;B0QZ60;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	H	74;52;52;52;52	ENSP00000442382:P74H;ENSP00000445427:P52H;ENSP00000383990:P52H;ENSP00000370710:P52H;ENSP00000370707:P52H	ENSP00000370707:P52H	P	+	2	0	KDM4C	6795609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.699000	0.84547	2.712000	0.92718	0.650000	0.86243	CCT	KDM4C	-	smart_TF_JmjN,pfscan_TF_JmjN	ENSG00000107077		0.353	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1		0	28	0	C	NM_015061		6805609	1			no_errors	ENST00000381309	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	6805609	C	A	6805609	3	1	9	1	0	0	0	0	1	0	0	0	8157	681	24	3	231	3	KDM4C	9	6805609	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		6805609	134407822	91	2495											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974766	21974766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctctacccgaccccgggCcgcggccgtggccagccagt	4	5	12	20	5	1	0	0	0	1	0	2	1	2	0	8	3	2	0	8	3	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:21974766C>T	ENST00000304494.5	-	1	331	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A21T|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A21T|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A21T|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	21					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.R22fs*14(1)|p.A20_A21del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGACCCCGGGCCGCGGCCGTG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1343	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											13	17	16					9																	21974766		1850	3817	5667	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.61G>A	9.37:g.21974766C>T	ENSP00000307101:p.Ala21Thr		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.A21T	ENST00000304494.5	37	c.61	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941382	0.92526	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.91843	-2.92;-2.92	4.89	3.98	0.46160	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.95137	0.8424	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.68621	0.83;0.959	D	0.93883	0.7173	9	0.15066	T	0.55	.	13.9251	0.63958	0.1536:0.8464:0.0:0.0	.	21;21	P42771;G3XAG3	CD2A1_HUMAN;.	T	21	ENSP00000307101:A21T;ENSP00000394932:A21T	ENSP00000307101:A21T	A	-	1	0	CDKN2A	21964766	0.994000	0.37717	0.044000	0.18714	0.119000	0.20118	3.954000	0.56708	1.392000	0.46585	-0.169000	0.13324	GCC	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	45	0	C	NM_000077		21974766	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.925	T	T	21974766	C	T	21974766	3	4	9	1	0	0	0	0	1	0	0	0	3168	739	26	3	622	3	CDKN2A	9	21974766	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	15169157	21974766	119238665	92	2496											
AQP7	364	genome.wustl.edu	37	chr9	33386447	33386447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgccaggaaggagcccaGgaactgccccagcacataga	13	2	12	14	1	0	1	0	0	0	1	0	4	0	4	5	3	5	1	5	3	3	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:33386447G>T	ENST00000537089.1	-	4	403	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	AQP7_ENST00000541274.1_Missense_Mutation_p.L29M|AQP7_ENST00000377425.4_Missense_Mutation_p.L64M|AQP7_ENST00000539936.1_Missense_Mutation_p.L121M			O14520	AQP7_HUMAN	aquaporin 7	121					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AAGGAGCCCAGGAACTGCCCC	0.612																																																	0													24	25	24					9																	33386447		2203	4299	6502	SO:0001583	missense	0			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"Ion channels / Aquaporins"	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.85C>A	9.37:g.33386447G>T	ENSP00000441619:p.Leu29Met		Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP	p.L121M	ENST00000537089.1	37	c.361		9	.	.	.	.	.	.	.	.	.	.	-	16.94	3.260374	0.59431	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000541274;ENST00000379503	T;T;T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41;2.41	4.42	1.5	0.22942	Aquaporin-like (2);	0.303270	0.31370	N	0.007766	T	0.28632	0.0709	M	0.83603	2.65	0.48341	D	0.999633	D;P;P;P;P	0.63046	0.992;0.871;0.767;0.871;0.949	P;P;P;P;P	0.51701	0.677;0.616;0.642;0.562;0.616	T	0.05550	-1.0878	10	0.59425	D	0.04	-9.6271	6.5516	0.22438	0.0903:0.0:0.5886:0.3211	.	29;120;121;64;121	B7Z7F6;Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;.;AQP7_HUMAN	M	29;120;121;64;29;120;121;29;57	ENSP00000441619:L29M;ENSP00000368821:L120M;ENSP00000297988:L121M;ENSP00000396111:L64M;ENSP00000410138:L29M;ENSP00000368820:L120M;ENSP00000439534:L121M;ENSP00000438860:L29M;ENSP00000368817:L57M	ENSP00000297988:L121M	L	-	1	2	AQP7	33376447	0.991000	0.36638	1.000000	0.80357	0.802000	0.45316	0.784000	0.26816	0.591000	0.29711	-0.194000	0.12790	CTG	AQP7	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000165269		0.612	AQP7-202	KNOWN	basic	protein_coding	AQP7	HGNC	protein_coding		-	0	237	0	G	NM_001170		33386447	-1	tier1	-	no_errors	ENST00000297988	ensembl	human	known	74_37	missense	11.64	167	22	SNP	0.999	T	T	33386447	G	T	33386447	3	4	9	1	0	0	0	0	1	0	0	0	831	991	35	3	683	3	AQP7	9	33386447	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	11411681	33386447	107826984	93	2497											
SLC28A3	64078	genome.wustl.edu	37	chr9	86905095	86905095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgtatgcacctagcaCgcttccagcaatggtagaga	14	8	10	9	1	0	2	0	0	0	2	1	3	1	2	2	1	3	6	2	1	5	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:86905095C>T	ENST00000376238.4	-	11	1172	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.V306M	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	375					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	GCACCTAGCACGCTTCCAGCA	0.423																																					Ovarian(106;425 1539 34835 42413 43572)												0													112	105	107					9																	86905095		2203	4300	6503	SO:0001583	missense	0			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1123G>A	9.37:g.86905095C>T	ENSP00000365413:p.Val375Met		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.V375M	ENST00000376238.4	37	c.1123	CCDS6670.1	9	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046206	0.75846	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.32272	1.46;1.46	5.82	3.98	0.46160	Nucleoside recognition (1);	0.120277	0.56097	D	0.000025	T	0.49474	0.1559	M	0.66297	2.02	0.54753	D	0.999981	D	0.65815	0.995	D	0.65684	0.937	T	0.47837	-0.9086	10	0.59425	D	0.04	-29.8803	11.1163	0.48262	0.129:0.8047:0.0:0.0663	.	375	Q9HAS3	S28A3_HUMAN	M	375;306	ENSP00000365413:V375M;ENSP00000446438:V306M	ENSP00000365413:V375M	V	-	1	0	SLC28A3	86094915	1.000000	0.71417	0.051000	0.19133	0.903000	0.53119	4.832000	0.62759	0.803000	0.34113	0.563000	0.77884	GTG	SLC28A3	-	pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	ENSG00000197506		0.423	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	HGNC	protein_coding	OTTHUMT00000052874.1	-	0	81	0	C	NM_022127		86905095	-1	tier1	-	no_errors	ENST00000376238	ensembl	human	known	74_37	missense	42.03	40	29	SNP	0.998	T	T	86905095	C	T	86905095	3	4	9	1	0	0	0	0	1	0	0	0	14578	536	19	1	984	1	SLC28A3	9	86905095	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	53518648	86905095	54308336	94	2498											
FAM120A	23196	genome.wustl.edu	37	chr9	96278385	96278385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgacggagcagaacagcTacagcaacattcctcacgaa	15	6	8	12	2	2	2	1	1	1	1	3	4	3	3	1	1	6	3	1	1	4	2	rs138573585		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:96278385T>C	ENST00000277165.6	+	7	1446	c.1252T>C	c.(1252-1254)Tac>Cac	p.Y418H	FAM120A_ENST00000333936.5_Missense_Mutation_p.Y418H|FAM120A_ENST00000375389.3_Missense_Mutation_p.Y418H|FAM120A_ENST00000340893.4_Missense_Mutation_p.Y418H	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	418						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAGAACAGCTACAGCAACAT	0.637																																																	0								T	HIS/TYR	1,3887		0,1,1943	33	33	33		1252	5.4	1	9	dbSNP_134	33	0,7826		0,0,3913	no	missense	FAM120A	NM_014612.3	83	0,1,5856	CC,CT,TT		0.0,0.0257,0.0085	possibly-damaging	418/1119	96278385	1,11713	1944	3913	5857	SO:0001583	missense	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1252T>C	9.37:g.96278385T>C	ENSP00000277165:p.Tyr418His		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.Y418H	ENST00000277165.6	37	c.1252	CCDS6706.1	9	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128741	0.77549	2.57E-4	0.0	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000005	T	0.64724	0.2624	L	0.43152	1.355	0.49687	D	0.999818	D;D;D;D;D	0.89917	0.999;0.993;0.999;0.997;1.0	D;P;D;D;D	0.85130	0.996;0.858;0.994;0.991;0.997	T	0.61787	-0.6991	10	0.31617	T	0.26	-13.7305	15.4422	0.75195	0.0:0.0:0.0:1.0	.	418;418;418;418;418	Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.;.;.;F120A_HUMAN;.	H	418	ENSP00000364538:Y418H;ENSP00000277165:Y418H;ENSP00000334918:Y418H;ENSP00000344698:Y418H	ENSP00000277165:Y418H	Y	+	1	0	FAM120A	95318206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.652000	0.74377	2.047000	0.60756	0.482000	0.46254	TAC	FAM120A	-	NULL	ENSG00000048828		0.637	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	-	0	54	0	T	NM_014612		96278385	1	tier1	rs138573585	no_errors	ENST00000333936	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	96278385	T	C	96278385	3	2	9	1	0	0	0	0	1	0	0	0	5434	1522	53	4	1278	4	FAM120A	9	96278385	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	9373290	96278385	44935046	95	2499											
AKNA	80709	genome.wustl.edu	37	chr9	117129824	117129824	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctgggagtccactcaccTtggccaggaactggctggcc	8	7	13	13	0	1	0	1	0	0	0	2	2	2	2	4	5	2	2	4	5	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:117129824T>A	ENST00000307564.4	-	6	1888	c.1727A>T	c.(1726-1728)aAg>aTg	p.K576M	AKNA_ENST00000312033.3_Splice_Site_p.K576M|AKNA_ENST00000223791.3_Splice_Site_p.K36M|AKNA_ENST00000374088.3_Splice_Site_p.K576M|AKNA_ENST00000374075.5_Splice_Site_p.K495M	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	576					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCACTCACCTTGGCCAGGAA	0.602																																																	0													33	33	33					9																	117129824		2203	4300	6503	SO:0001630	splice_region_variant	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1728+1A>T	9.37:g.117129824T>A			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.K576M	ENST00000307564.4	37	c.1727	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110624	0.77210	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.43294	2.2;2.2;2.05;2.2;0.95	5.05	5.05	0.67936	.	0.245479	0.29239	N	0.012735	T	0.54046	0.1834	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63192	0.819;0.912	T	0.56792	-0.7920	10	0.87932	D	0	-27.7219	11.3592	0.49633	0.0:0.0:0.0:1.0	.	576;495	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	M	576;417;576;36;495;576	ENSP00000303769:K576M;ENSP00000363201:K576M;ENSP00000223791:K36M;ENSP00000363188:K495M;ENSP00000309222:K576M	ENSP00000223791:K36M	K	-	2	0	AKNA	116169645	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.261000	0.43276	2.244000	0.73946	0.533000	0.62120	AAG	AKNA	-	NULL	ENSG00000106948		0.602	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0	44	0	T	NM_030767	Missense_Mutation	117129824	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A	A	117129824	T	A	117129824	5	1	9	1	0	0	0	0	0	0	1	0	463	1623	56	5	2660	5	AKNA	9	117129824	Splice_Site	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	20851439	117129824	24083607	96	2500											
NUP188	23511	genome.wustl.edu	37	chr9	131767801	131767801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgtctgccagattctgCtggatcaggtactgcccatc	8	11	10	12	0	3	2	1	0	2	2	4	3	3	3	2	2	4	2	2	2	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:131767801C>T	ENST00000372577.2	+	40	4750	c.4729C>T	c.(4729-4731)Ctg>Ttg	p.L1577L	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1577					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCAGATTCTGCTGGATCAGGT	0.577																																																	0													95	93	93					9																	131767801		2203	4300	6503	SO:0001819	synonymous_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4729C>T	9.37:g.131767801C>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L1577	ENST00000372577.2	37	c.4729	CCDS35156.1	9																																																																																			NUP188	-	NULL	ENSG00000095319		0.577	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0	26	0	C			131767801	1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.997	T	T	131767801	C	T	131767801	2	4	9	1	0	0	0	0	0	0	0	1	10797	796	28	3		3	NUP188	9	131767801	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	14637977	131767801	9445630	97	2501											
ADAMTS13	11093	genome.wustl.edu	37	chr9	136290691	136290691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccctgggggctcagtttCgggtgcacctggtgaagatg	5	10	16	10	2	1	2	1	1	0	1	3	2	2	2	2	4	1	3	2	4	1	1	rs587701622		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:136290691C>T	ENST00000371929.3	+	4	817	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	ADAMTS13_ENST00000371916.1_Missense_Mutation_p.R125W|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R125W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R125W|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371911.3_Missense_Mutation_p.R125W	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	125	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R125W(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCTCAGTTTCGGGTGCACCT	0.607																																																	1	Substitution - Missense(1)	endometrium(1)											60	49	53					9																	136290691		2203	4300	6503	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.373C>T	9.37:g.136290691C>T	ENSP00000360997:p.Arg125Trp		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R125W	ENST00000371929.3	37	c.373	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746304	0.30955	.	.	ENSG00000160323	ENST00000371929;ENST00000371916;ENST00000355699;ENST00000356589;ENST00000371911	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	4.57	3.67	0.42095	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.84995	0.5596	M	0.81341	2.54	0.80722	D	1	P;B;B;P	0.45011	0.799;0.35;0.202;0.848	B;B;B;B	0.38880	0.284;0.094;0.057;0.222	D	0.83753	0.0210	9	0.62326	D	0.03	.	7.3467	0.26668	0.167:0.7411:0.0:0.0919	.	125;125;125;125	Q76LX8;Q76LX8-3;Q76LX8-2;E7EV88	ATS13_HUMAN;.;.;.	W	125	ENSP00000360997:R125W;ENSP00000360984:R125W;ENSP00000347927:R125W;ENSP00000348997:R125W;ENSP00000360979:R125W	ENSP00000347927:R125W	R	+	1	2	ADAMTS13	135280512	0.999000	0.42202	0.919000	0.36401	0.395000	0.30598	2.766000	0.47629	0.915000	0.36847	0.460000	0.39030	CGG	ADAMTS13	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000160323		0.607	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	-	0	43	0	C	NM_139025		136290691	1	tier1	-	no_errors	ENST00000371929	ensembl	human	known	74_37	missense	53.45	27	31	SNP	1.000	T	T	136290691	C	T	136290691	3	4	9	1	0	0	0	0	1	0	0	0	258	875	31	1	387	1	ADAMTS13	9	136290691	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	4522890	136290691	4922740	98	2502											
KIAA0649	9858	genome.wustl.edu	37	chr9	138379218	138379218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaggggctctcagtgagCaggagaaatgtttacgttca	11	9	13	8	1	2	2	2	1	1	1	3	3	2	2	1	3	2	4	1	3	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:138379218C>T	ENST00000356818.2	+	4	3411	c.2862C>T	c.(2860-2862)agC>agT	p.S954S	PPP1R26_ENST00000604351.1_Silent_p.S954S|PPP1R26_ENST00000605286.1_Silent_p.S954S|PPP1R26_ENST00000401470.3_Silent_p.S954S|PPP1R26_ENST00000605660.1_Silent_p.S954S|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	954					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCTCAGTGAGCAGGAGAAATG	0.657																																																	0													31	35	34					9																	138379218		2066	4055	6121	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2862C>T	9.37:g.138379218C>T			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.S954	ENST00000356818.2	37	c.2862	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.657	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0	47	0	C	NM_014811		138379218	1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.000	T	T	138379218	C	T	138379218	2	4	9	1	0	0	0	0	0	0	0	1	8214	709	25	3		3	KIAA0649	9	138379218	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	2088527	138379218	2834213	99	2503											
NOTCH1	4851	genome.wustl.edu	37	chr9	139397714	139397714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaatgcggccacgtcggtgGcactctggaagcactgcgag	8	6	16	11	4	1	0	0	0	1	0	2	3	1	2	1	5	3	2	1	5	2	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:139397714G>A	ENST00000277541.6	-	27	5162	c.5087C>T	c.(5086-5088)gCc>gTc	p.A1696V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1696					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1697D(2)|p.A1696D(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACGTCGGTGGCACTCTGGAA	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)											59	70	66					9																	139397714		2146	4268	6414	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5087C>T	9.37:g.139397714G>A	ENSP00000277541:p.Ala1696Val		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.A1696V	ENST00000277541.6	37	c.5087	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.449504	0.96205	.	.	ENSG00000148400	ENST00000277541	T	0.49139	0.79	4.95	4.95	0.65309	Notch, NODP domain (1);	0.175105	0.50627	D	0.000111	T	0.64538	0.2607	M	0.82823	2.61	0.80722	D	1	P	0.43024	0.798	P	0.51516	0.672	T	0.65236	-0.6217	10	0.33940	T	0.23	.	17.524	0.87794	0.0:0.0:1.0:0.0	.	1696	P46531	NOTC1_HUMAN	V	1696	ENSP00000277541:A1696V	ENSP00000277541:A1696V	A	-	2	0	NOTCH1	138517535	1.000000	0.71417	0.892000	0.35008	0.649000	0.38597	9.579000	0.98204	2.457000	0.83068	0.561000	0.74099	GCC	NOTCH1	-	pfam_Notch_NODP_dom,pirsf_Notch	ENSG00000148400		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	65	0	G	NM_017617		139397714	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	A	A	139397714	G	A	139397714	3	1	9	1	0	0	0	0	1	0	0	0	10586	1203	42	3	2612	3	NOTCH1	9	139397714	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1018496	139397714	1815717	100	2504											
ANAPC2	29882	genome.wustl.edu	37	chr9	140074823	140074823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttggcattgatgcggcggGagtccgccatgtcctgagga	6	10	16	9	3	0	2	0	2	0	0	2	4	2	4	3	4	1	2	3	4	0	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr9:140074823G>A	ENST00000323927.2	-	10	1704	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	567					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GATGCGGCGGGAGTCCGCCAT	0.667																																																	0													34	36	36					9																	140074823		2203	4299	6502	SO:0001583	missense	0			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"Anaphase promoting complex subunits"	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1700C>T	9.37:g.140074823G>A	ENSP00000314004:p.Ser567Phe		Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.S567F	ENST00000323927.2	37	c.1700	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828624	0.71258	.	.	ENSG00000176248	ENST00000323927	D	0.87334	-2.24	4.27	4.27	0.50696	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.88842	2.985	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.968	D	0.94915	0.8068	10	0.87932	D	0	-23.5812	14.1985	0.65686	0.0:0.0:1.0:0.0	.	567;564	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	F	567	ENSP00000314004:S567F	ENSP00000314004:S567F	S	-	2	0	ANAPC2	139194644	1.000000	0.71417	0.756000	0.31282	0.558000	0.35554	6.765000	0.74965	2.202000	0.70862	0.462000	0.41574	TCC	ANAPC2	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000176248		0.667	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	-	0	69	0	G	NM_013366		140074823	-1	tier1	-	no_errors	ENST00000323927	ensembl	human	known	74_37	missense	15.07	62	11	SNP	0.998	A	A	140074823	G	A	140074823	3	1	9	1	0	0	0	0	1	0	0	0	603	1174	41	3	784	3	ANAPC2	9	140074823	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	677109	140074823	1138608	101	2505											
SFMBT2	57713	genome.wustl.edu	37	chr10	7218087	7218087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgacttggtcagatgtccGtacgattttgaccacagccc	8	11	10	12	3	1	2	1	1	0	1	2	4	2	2	3	1	3	1	3	1	1	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:7218087G>A	ENST00000361972.4	-	17	1939	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R617W	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	617					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R617G(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TCAGATGTCCGTACGATTTTG	0.468																																																	1	Substitution - Missense(1)	breast(1)											108	107	107					10																	7218087		2203	4300	6503	SO:0001583	missense	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1849C>T	10.37:g.7218087G>A	ENSP00000355109:p.Arg617Trp		A7MD09|Q9HCF5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.R617W	ENST00000361972.4	37	c.1849	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648095	0.67358	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.47528	0.84;0.84	5.96	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.68522	0.3010	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72868	-0.4162	10	0.72032	D	0.01	.	16.3303	0.83006	0.0:0.0:0.8669:0.1331	.	617	Q5VUG0	SMBT2_HUMAN	W	617	ENSP00000355109:R617W;ENSP00000380353:R617W	ENSP00000355109:R617W	R	-	1	2	SFMBT2	7258093	1.000000	0.71417	0.041000	0.18516	0.283000	0.27025	5.140000	0.64807	1.468000	0.48064	0.655000	0.94253	CGG	SFMBT2	-	pfam_DUF3588	ENSG00000198879		0.468	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1		0	62	0	G	NM_001029880		7218087	-1			no_errors	ENST00000361972	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.998	A	A	7218087	G	A	7218087	3	1	9	1	0	0	0	0	1	0	0	0	14203	1144	40	1	855	1	SFMBT2	10	7218087	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		7218087	128316660	102	2506											
FAM171A1	221061	genome.wustl.edu	37	chr10	15255663	15255663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgctgctgagagatggCctgggaagacaggggctggg	8	6	20	7	0	0	3	0	1	0	2	0	5	0	4	1	6	2	3	1	6	1	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:15255663C>T	ENST00000378116.4	-	8	1930	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	642						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A642T(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGAGAGATGGCCTGGGAAGAC	0.607																																																	2	Substitution - Missense(2)	lung(2)											47	55	52					10																	15255663		2203	4300	6503	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1924G>A	10.37:g.15255663C>T	ENSP00000367356:p.Ala642Thr		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.A642T	ENST00000378116.4	37	c.1924	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508456	0.64410	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.31769	1.48	5.25	5.25	0.73442	.	0.055849	0.64402	D	0.000001	T	0.51890	0.1701	L	0.57536	1.79	0.50632	D	0.999884	D	0.89917	1.0	D	0.75484	0.986	T	0.30357	-0.9981	10	0.22706	T	0.39	-29.4218	19.0487	0.93032	0.0:1.0:0.0:0.0	.	642	Q5VUB5	F1711_HUMAN	T	642;641	ENSP00000367356:A642T	ENSP00000367356:A642T	A	-	1	0	FAM171A1	15295669	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	2.715000	0.47210	2.724000	0.93272	0.563000	0.77884	GCC	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.607	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1		0	59	0	C	XM_167709		15255663	-1			no_errors	ENST00000378116	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	15255663	C	T	15255663	3	4	9	1	0	0	0	0	1	0	0	0	5509	739	26	3	752	3	FAM171A1	10	15255663	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	8037576	15255663	120279084	103	2507											
PCDH15	65217	genome.wustl.edu	37	chr10	55973754	55973754	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactggctccaggagactaAgttctgctgtcctaggatgc	8	12	11	10	0	1	1	0	0	1	1	3	3	3	2	2	3	3	3	2	3	3	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:55973754A>C	ENST00000320301.6	-	10	1434	c.1040T>G	c.(1039-1041)cTt>cGt	p.L347R	PCDH15_ENST00000395433.1_Missense_Mutation_p.L325R|PCDH15_ENST00000361849.3_Missense_Mutation_p.L347R|PCDH15_ENST00000373955.1_Missense_Mutation_p.L347R|PCDH15_ENST00000437009.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395445.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395438.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395432.2_Missense_Mutation_p.L310R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395446.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395430.1_Missense_Mutation_p.L347R|PCDH15_ENST00000395442.1_Missense_Mutation_p.L347R|PCDH15_ENST00000414778.1_Missense_Mutation_p.L352R|PCDH15_ENST00000373957.3_Missense_Mutation_p.L325R|PCDH15_ENST00000373965.2_Missense_Mutation_p.L347R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	347	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.L352R(2)|p.L347R(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGAGACTAAGTTCTGCTGT	0.363										HNSCC(58;0.16)																																							3	Substitution - Missense(3)	large_intestine(3)											88	89	89					10																	55973754		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1040T>G	10.37:g.55973754A>C	ENSP00000322604:p.Leu347Arg		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L347R	ENST00000320301.6	37	c.1040	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943138	0.73672	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;1.7;0.4;0.4;0.4;0.4;0.4;0.4;0.4	4.99	4.99	0.66335	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74199	0.3685	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999;1.0;1.0;0.998;0.998;0.998;0.998;0.999;0.999;0.998;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.969;0.969;0.985;0.987;0.98;0.998;0.98;0.969;0.969;0.973;0.989;0.991;0.964;0.969	T	0.79165	-0.1916	9	0.87932	D	0	.	14.6174	0.68558	1.0:0.0:0.0:0.0	.	325;347;347;352;347;310;347;347;347;347;347;352;347;325;347	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	R	347;352;347;347;347;347;347;347;310;347;325;325;347;347;352;347;347	ENSP00000363076:L347R;ENSP00000410304:L352R;ENSP00000378826:L347R;ENSP00000378832:L347R;ENSP00000378833:L347R;ENSP00000378829:L347R;ENSP00000378827:L347R;ENSP00000378820:L310R;ENSP00000354950:L347R;ENSP00000378821:L325R;ENSP00000363068:L325R;ENSP00000322604:L347R;ENSP00000378818:L347R;ENSP00000412628:L347R;ENSP00000363066:L347R	ENSP00000322604:L347R	L	-	2	0	PCDH15	55643760	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.592000	0.74095	1.998000	0.58463	0.455000	0.32223	CTT	PCDH15	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	39	0	A	NM_033056		55973754	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	58.14	18	25	SNP	1.000	C	C	55973754	A	C	55973754	3	2	9	1	0	0	0	0	1	0	0	0	11550	72	3	4	6567	4	PCDH15	10	55973754	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	40718091	55973754	79560993	104	2508											
ANK3	288	genome.wustl.edu	37	chr10	61835810	61835810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggatgccagcccttttaagGgcgtagcttccgtgactgct	6	12	12	11	2	0	1	0	1	0	0	1	2	1	2	3	2	4	3	3	2	2	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:61835810G>T	ENST00000280772.2	-	37	5020	c.4829C>A	c.(4828-4830)cCc>cAc	p.P1610H	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1610	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCCTTTTAAGGGCGTAGCTTC	0.483																																																	0													105	104	104					10																	61835810		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4829C>A	10.37:g.61835810G>T	ENSP00000280772:p.Pro1610His		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P1610H	ENST00000280772.2	37	c.4829	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029941	0.54790	.	.	ENSG00000151150	ENST00000280772	T	0.64438	-0.1	5.79	5.79	0.91817	.	0.172360	0.27896	N	0.017416	T	0.57184	0.2036	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	B	0.43916	0.436	T	0.62167	-0.6911	10	0.66056	D	0.02	.	15.7864	0.78306	0.0:0.1738:0.8261:0.0	.	1610	Q12955	ANK3_HUMAN	H	1610	ENSP00000280772:P1610H	ENSP00000280772:P1610H	P	-	2	0	ANK3	61505816	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.123000	0.64703	2.739000	0.93911	0.591000	0.81541	CCC	ANK3	-	NULL	ENSG00000151150		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	55	0	G	NM_020987		61835810	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.997	T	T	61835810	G	T	61835810	3	4	9	1	0	0	0	0	1	0	0	0	622	1232	43	3	8645	3	ANK3	10	61835810	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5862056	61835810	73698937	105	2509											
HK1	3098	genome.wustl.edu	37	chr10	71148995	71148995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggtcaacgacacagtgGgcaccatgatgacctgtgct	9	9	12	11	1	1	2	1	2	0	0	1	3	1	2	2	2	2	2	2	2	1	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:71148995G>T	ENST00000359426.6	+	14	2082	c.1978G>T	c.(1978-1980)Ggc>Tgc	p.G660C	HK1_ENST00000404387.2_Missense_Mutation_p.G664C|HK1_ENST00000448642.2_Missense_Mutation_p.G695C|HK1_ENST00000298649.3_Missense_Mutation_p.G659C|HK1_ENST00000360289.2_Missense_Mutation_p.G648C	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	660	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CGACACAGTGGGCACCATGAT	0.517																																																	0													200	147	165					10																	71148995		2203	4300	6503	SO:0001583	missense	0			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1978G>T	10.37:g.71148995G>T	ENSP00000352398:p.Gly660Cys		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.G695C	ENST00000359426.6	37	c.2083	CCDS7292.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.163810	0.94727	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53	5.82	5.82	0.92795	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	H	0.98786	4.33	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.96530	0.9392	10	0.87932	D	0	-26.914	19.6856	0.95978	0.0:0.0:1.0:0.0	.	660;660;659;695;664;648	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	C	648;695;664;659;660;660	ENSP00000353433:G648C;ENSP00000402103:G695C;ENSP00000384774:G664C;ENSP00000298649:G659C;ENSP00000352398:G660C	ENSP00000298649:G659C	G	+	1	0	HK1	70819001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.768000	0.98965	2.762000	0.94881	0.650000	0.86243	GGC	HK1	-	pfam_Hexokinase_N,prints_Hexokinase	ENSG00000156515		0.517	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	HGNC	protein_coding	OTTHUMT00000048429.2	-	0	70	0	G	NM_000188		71148995	1	tier1	-	no_errors	ENST00000448642	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	71148995	G	T	71148995	3	4	9	1	0	0	0	0	1	0	0	0	7217	1232	43	3	2210	3	HK1	10	71148995	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	9313185	71148995	64385752	106	2510											
MYST4	23522	genome.wustl.edu	37	chr10	76735386	76735386	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttaaagttaacaagaaaAccaaagggctcattgatggc	17	8	8	8	0	1	2	1	1	0	1	1	2	1	2	1	2	2	2	1	2	7	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:76735386A>C	ENST00000287239.4	+	8	1780	c.1291A>C	c.(1291-1293)Acc>Ccc	p.T431P	KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.T431P|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	431	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TAACAAGAAAACCAAAGGGCT	0.458																																																	0													113	95	101					10																	76735386		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1291A>C	10.37:g.76735386A>C	ENSP00000287239:p.Thr431Pro		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T431P	ENST00000287239.4	37	c.1291	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	A	9.601	1.128775	0.21041	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.79940	-1.32;-1.15	5.97	4.82	0.62117	.	0.000000	0.51477	D	0.000089	T	0.80374	0.4611	L	0.29908	0.895	0.38250	D	0.941561	D;D	0.60160	0.986;0.987	P;P	0.59546	0.859;0.726	T	0.80495	-0.1357	9	.	.	.	-9.2405	12.3478	0.55130	0.9329:0.0:0.0671:0.0	.	431;431	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	P	431	ENSP00000287239:T431P;ENSP00000361796:T431P	.	T	+	1	0	KAT6B	76405392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	2.283000	0.76528	0.533000	0.62120	ACC	KAT6B	-	NULL	ENSG00000156650		0.458	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	-	0	77	0	A	NM_012330		76735386	1	tier1	-	no_errors	ENST00000287239	ensembl	human	known	74_37	missense	21.92	57	16	SNP	1.000	C	C	76735386	A	C	76735386	3	2	9	1	0	0	0	0	1	0	0	0	10143	43	2	4	1313	4	MYST4	10	76735386	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	5586391	76735386	58799361	107	2511											
ZDHHC16	84287	genome.wustl.edu	37	chr10	99211446	99211446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccatgcgaggccagcGgagcctgctgctgggcccgg	7	4	17	13	3	0	0	0	0	0	0	0	3	0	2	4	5	6	2	4	5	1	0	rs141510622		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:99211446G>T	ENST00000370854.3	+	2	203	c.14G>T	c.(13-15)cGg>cTg	p.R5L	ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R5L|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R5L|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R5L|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R5L|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.R5L|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R5L	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	5					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R5Q(1)		kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CGAGGCCAGCGGAGCCTGCTG	0.642																																																	1	Substitution - Missense(1)	skin(1)											27	31	30					10																	99211446		2203	4299	6502	SO:0001583	missense	0			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.14G>T	10.37:g.99211446G>T	ENSP00000359891:p.Arg5Leu		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R5L	ENST00000370854.3	37	c.14	CCDS7460.1	10	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921101	0.73213	.	.	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.59	5.59	0.84812	.	0.198090	0.39407	N	0.001363	T	0.32285	0.0824	L	0.29908	0.895	0.39776	D	0.972231	D;D;B;D;D;D;D	0.76494	0.987;0.998;0.029;0.992;0.999;0.992;0.987	D;D;B;D;D;D;D	0.79784	0.931;0.985;0.027;0.969;0.993;0.969;0.953	T	0.07481	-1.0770	10	0.72032	D	0.01	0.0065	10.6764	0.45789	0.1171:0.0:0.8829:0.0	.	5;5;5;5;5;5;5	B4DNL2;E9PCL9;B1AMU0;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.;.;.;.;.;.;ZDH16_HUMAN	L	5	ENSP00000359891:R5L;ENSP00000377357:R5L;ENSP00000400719:R5L;ENSP00000359883:R5L;ENSP00000345383:R5L;ENSP00000323360:R5L;ENSP00000359879:R5L;ENSP00000304487:R5L;ENSP00000398532:R5L	ENSP00000304487:R5L	R	+	2	0	ZDHHC16	99201436	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.057000	0.57455	2.641000	0.89580	0.561000	0.74099	CGG	ZDHHC16	-	NULL	ENSG00000171307		0.642	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2		0	30	0	G	NM_032327		99211446	1			no_errors	ENST00000370854	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	99211446	G	T	99211446	3	4	9	1	0	0	0	0	1	0	0	0	17654	1116	39	2	16	2	ZDHHC16	10	99211446	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	22476060	99211446	36323301	108	2512											
CCDC147	159686	genome.wustl.edu	37	chr10	106139896	106139896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaactacaaggatgaggCtcagaagcagagaaagatca	18	4	11	8	0	2	5	2	1	0	4	2	7	2	6	1	2	3	2	1	2	5	1	rs34038957		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:106139896C>T	ENST00000369704.3	+	9	1417	c.1283C>T	c.(1282-1284)gCt>gTt	p.A428V	CCDC147_ENST00000369703.1_Missense_Mutation_p.A50V|CCDC147_ENST00000312902.5_Missense_Mutation_p.A50V	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		428						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAGGATGAGGCTCAGAAGCAG	0.493																																																	0													131	122	125					10																	106139896		2203	4300	6503	SO:0001583	missense	0																														ENST00000369704.3:c.1283C>T	10.37:g.106139896C>T	ENSP00000358718:p.Ala428Val		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.A428V	ENST00000369704.3	37	c.1283	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908623	0.92107	.	.	ENSG00000120051	ENST00000369704;ENST00000312902;ENST00000369703	T	0.33438	1.41	5.31	5.31	0.75309	.	0.048061	0.85682	D	0.000000	T	0.30947	0.0781	L	0.49455	1.56	0.80722	D	1	P	0.40794	0.729	B	0.36922	0.236	T	0.09164	-1.0687	10	0.48119	T	0.1	-8.2454	17.1399	0.86750	0.0:1.0:0.0:0.0	.	428	Q5T655	CC147_HUMAN	V	428;50;50	ENSP00000358718:A428V	ENSP00000323620:A50V	A	+	2	0	CCDC147	106129886	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.703000	0.84585	2.485000	0.83878	0.557000	0.71058	GCT	CCDC147	-	NULL	ENSG00000120051		0.493	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1		0	57	0	C			106139896	1			no_errors	ENST00000369704	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	T	T	106139896	C	T	106139896	3	4	9	1	0	0	0	0	1	0	0	0	2788	797	28	3	1317	3	CCDC147	10	106139896	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	6928450	106139896	29394851	109	2513											
VTI1A	143187	genome.wustl.edu	37	chr10	114224339	114224339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttggaagtccgagagataCcaccccaaagtcgagggatg	13	7	12	9	2	0	1	0	0	0	1	2	6	1	3	4	2	1	0	4	2	3	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr10:114224339C>T	ENST00000393077.2	+	3	303	c.187C>T	c.(187-189)Cca>Tca	p.P63S	VTI1A_ENST00000432306.1_Missense_Mutation_p.P63S	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	63					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CCGAGAGATACCACCCCAAAG	0.383			T	TCF7L2	colorectal																																			Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													118	108	111					10																	114224339		2203	4300	6503	SO:0001583	missense	0			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.187C>T	10.37:g.114224339C>T	ENSP00000376792:p.Pro63Ser		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.P63S	ENST00000393077.2	37	c.187	CCDS7575.2	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956178	0.73902	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.62	5.62	0.85841	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	L	0.55103	1.725	0.58432	D	0.999991	B;P	0.38677	0.256;0.642	B;P	0.47528	0.288;0.549	T	0.69439	-0.5145	9	0.52906	T	0.07	-30.1432	19.6486	0.95791	0.0:1.0:0.0:0.0	.	63;63	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	S	63	.	ENSP00000376792:P63S	P	+	1	0	VTI1A	114214329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.141000	0.77330	2.646000	0.89796	0.591000	0.81541	CCA	VTI1A	-	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE	ENSG00000151532		0.383	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2		0	56	0	C			114224339	1			no_errors	ENST00000393077	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	114224339	C	T	114224339	3	4	9	1	0	0	0	0	1	0	0	0	17284	507	18	3	197	3	VTI1A	10	114224339	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	8084443	114224339	21310408	110	2514											
MUC5B	727897	genome.wustl.edu	37	chr11	1263020	1263020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagcctacgagtagccCggggctgaccagggctcccc	6	4	14	17	3	0	1	0	1	0	0	1	2	1	1	6	3	3	4	6	3	2	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:1263020C>T	ENST00000529681.1	+	31	4968	c.4910C>T	c.(4909-4911)cCg>cTg	p.P1637L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P1640L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1637	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGAGTAGCCCGGGGCTGACC	0.667																																																	0													23	31	28					11																	1263020		2032	4153	6185	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4910C>T	11.37:g.1263020C>T	ENSP00000436812:p.Pro1637Leu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1640L	ENST00000529681.1	37	c.4919	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	7.855	0.724727	0.15439	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15372	2.43;2.61	3.47	-1.27	0.09347	.	.	.	.	.	T	0.09158	0.0226	N	0.12182	0.205	0.09310	N	1	B;B	0.15473	0.013;0.007	B;B	0.06405	0.002;0.001	T	0.29579	-1.0007	9	0.87932	D	0	.	8.1936	0.31383	0.1273:0.7105:0.0:0.1622	.	2330;1640	A7Y9J9;E9PBJ0	.;.	L	1637;1640;1638;1707	ENSP00000436812:P1637L;ENSP00000415793:P1640L	ENSP00000343037:P1638L	P	+	2	0	MUC5B	1219596	0.809000	0.29036	0.000000	0.03702	0.007000	0.05969	0.878000	0.28126	-0.620000	0.05641	-2.161000	0.00327	CCG	MUC5B	-	NULL	ENSG00000117983		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	52	0	C	XM_001126093		1263020	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	57.45	20	27	SNP	0.000	T	T	1263020	C	T	1263020	3	4	9	1	0	0	0	0	1	0	0	0	10017	652	23	1	5041	1	MUC5B	11	1263020	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		1263020	133743496	111	2515											
MUC5B	727897	genome.wustl.edu	37	chr11	1269837	1269837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acggtgaccccctcctccgtCccggggaccacccacacccc	6	4	8	23	3	0	1	0	1	0	0	3	2	3	2	9	3	0	0	9	3	0	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:1269837C>T	ENST00000529681.1	+	31	11785	c.11727C>T	c.(11725-11727)gtC>gtT	p.V3909V	MUC5B_ENST00000447027.1_Silent_p.V3912V|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3909	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			V -> I (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCTCCGTCCCGGGGACCA	0.647																																																	0													89	101	97					11																	1269837		2052	4166	6218	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11727C>T	11.37:g.1269837C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V3912	ENST00000529681.1	37	c.11736	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	209	0	C	XM_001126093		1269837	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	39.26	147	95	SNP	0.000	T	T	1269837	C	T	1269837	2	4	9	1	0	0	0	0	0	0	0	1	10017	842	30	3		3	MUC5B	11	1269837	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	6817	1269837	133736679	112	2516											
TRPM5	29850	genome.wustl.edu	37	chr11	2436661	2436661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacaaactcgggcttgttgCtgaccagggcgtccaccatc	8	8	11	14	2	0	1	0	1	0	0	3	1	1	1	3	2	2	4	3	2	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:2436661C>G	ENST00000155858.6	-	9	1177	c.1169G>C	c.(1168-1170)aGc>aCc	p.S390T	TRPM5_ENST00000533060.1_Missense_Mutation_p.S390T|TRPM5_ENST00000528453.1_Missense_Mutation_p.S390T|TRPM5_ENST00000452833.1_Missense_Mutation_p.S392T	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCTTGTTGCTGACCAGGGC	0.632																																					NSCLC(1;49 61 17205 18850 43201)												0													23	22	22					11																	2436661		2197	4295	6492	SO:0001583	missense	0			AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"Voltage-gated ion channels / Transient receptor potential cation channels"	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.1169G>C	11.37:g.2436661C>G	ENSP00000155858:p.Ser390Thr			Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S392T	ENST00000155858.6	37	c.1175	CCDS31340.1	11	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132516	0.56828	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453;ENST00000437542	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	3.21	1.59	0.23543	.	0.137826	0.48767	D	0.000167	T	0.14485	0.0350	N	0.17474	0.49	0.28522	N	0.913022	P;P;B	0.45348	0.856;0.856;0.203	B;B;B	0.43536	0.423;0.423;0.09	T	0.10636	-1.0621	10	0.09843	T	0.71	-13.0414	4.0707	0.09880	0.0:0.4812:0.0:0.5188	.	390;392;390	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	T	384;390;392;390;390;390	ENSP00000434383:S384T;ENSP00000155858:S390T;ENSP00000387965:S392T;ENSP00000434121:S390T;ENSP00000436809:S390T	ENSP00000155858:S390T	S	-	2	0	TRPM5	2393237	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.524000	0.60552	0.695000	0.31675	0.491000	0.48974	AGC	TRPM5	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000070985		0.632	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027378.1	-	0	54	0	C	NM_014555		2436661	-1	tier1	-	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	G	G	2436661	C	G	2436661	3	3	9	1	0	0	0	0	1	0	0	0	16637	797	28	5	2392	5	TRPM5	11	2436661	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	1166824	2436661	132569855	113	2517											
ABCC8	6833	genome.wustl.edu	37	chr11	17449846	17449846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggactcacctggacacagCagttgtcagcatcgccatct	10	8	9	14	1	3	0	2	0	1	0	4	2	3	2	2	2	2	3	2	2	0	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:17449846C>T	ENST00000389817.3	-	14	2098	c.2030G>A	c.(2029-2031)tGc>tAc	p.C677Y	ABCC8_ENST00000302539.4_Missense_Mutation_p.C677Y|ABCC8_ENST00000528202.1_5'Flank			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	677					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTGGACACAGCAGTTGTCAGC	0.632																																																	0													84	93	90					11																	17449846		2200	4293	6493	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2030G>A	11.37:g.17449846C>T	ENSP00000374467:p.Cys677Tyr		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.C677Y	ENST00000389817.3	37	c.2030	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.921376	0.00498	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.91295	-2.81;-2.82	5.08	0.894	0.19242	.	0.518447	0.21577	N	0.072311	T	0.72269	0.3439	N	0.11131	0.1	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.58792	-0.7574	10	0.02654	T	1	.	2.9507	0.05861	0.3389:0.4126:0.1075:0.141	.	677	Q09428	ABCC8_HUMAN	Y	677;677;681	ENSP00000374467:C677Y;ENSP00000303960:C677Y	ENSP00000303960:C677Y	C	-	2	0	ABCC8	17406422	0.960000	0.32886	0.954000	0.39281	0.701000	0.40568	0.036000	0.13819	-0.364000	0.08088	-2.056000	0.00403	TGC	ABCC8	-	NULL	ENSG00000006071		0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	35	0	C	NM_000352		17449846	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.490	T	T	17449846	C	T	17449846	3	4	9	1	0	0	0	0	1	0	0	0	58	710	25	3	2819	3	ABCC8	11	17449846	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	15013185	17449846	117556670	114	2518											
SLC17A6	57084	genome.wustl.edu	37	chr11	22384351	22384351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagtacactggctggtCttcagtgttttatgtctacg	6	16	11	8	1	3	0	1	0	2	0	3	0	3	0	0	2	3	4	0	2	3	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:22384351C>A	ENST00000263160.3	+	6	1165	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	243					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACTGGCTGGTCTTCAGTGTTT	0.403																																																	0													209	179	189					11																	22384351		2203	4300	6503	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.728C>A	11.37:g.22384351C>A	ENSP00000263160:p.Ser243Tyr		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S243Y	ENST00000263160.3	37	c.728	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867002	0.91511	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59083	0.29	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69424	0.3109	M	0.78344	2.41	0.80722	D	1	B	0.28760	0.221	B	0.39771	0.309	T	0.70513	-0.4851	10	0.87932	D	0	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	243	Q9P2U8	VGLU2_HUMAN	Y	243;131	ENSP00000263160:S243Y	ENSP00000263160:S243Y	S	+	2	0	SLC17A6	22340927	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.047000	0.71038	2.770000	0.95276	0.655000	0.94253	TCT	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.403	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	102	0	C	NM_020346		22384351	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	32.39	48	23	SNP	1.000	A	A	22384351	C	A	22384351	3	1	9	1	0	0	0	0	1	0	0	0	14466	913	32	3	750	3	SLC17A6	11	22384351	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	4934505	22384351	112622165	115	2519			1	2		2	2	13	N	C_A	8.411405e-05
SLC17A6	57084	genome.wustl.edu	37	chr11	22384363	22384363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctggtcttcagtgttttAtgtctacggtatgttatatt	6	20	10	5	1	3	0	1	0	2	0	3	0	3	0	0	3	1	4	0	3	5	8			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:22384363A>G	ENST00000263160.3	+	6	1177	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	247					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCAGTGTTTTATGTCTACGGT	0.393																																																	0													182	159	166					11																	22384363		2203	4300	6503	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.740A>G	11.37:g.22384363A>G	ENSP00000263160:p.Tyr247Cys		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y247C	ENST00000263160.3	37	c.740	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500554	0.85176	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61158	0.13	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85075	0.5614	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90754	0.4659	10	0.87932	D	0	.	15.9669	0.79979	1.0:0.0:0.0:0.0	.	247	Q9P2U8	VGLU2_HUMAN	C	247;135	ENSP00000263160:Y247C	ENSP00000263160:Y247C	Y	+	2	0	SLC17A6	22340939	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.287000	0.95975	2.236000	0.73375	0.533000	0.62120	TAT	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.393	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	103	0	A	NM_020346		22384363	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	31.82	44	21	SNP	1.000	G	G	22384363	A	G	22384363	3	3	9	1	0	0	0	0	1	0	0	0	14466	449	16	4	762	4	SLC17A6	11	22384363	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	12	22384363	112622153	116	2520			1	2		2	2	13	N	C_A	8.411405e-05
ARFGAP2	84364	genome.wustl.edu	37	chr11	47189519	47189519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccttctcctctaccctGtccataccccaggcagcatc	6	10	6	19	0	2	0	0	0	2	0	6	0	4	0	6	2	3	3	6	2	2	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:47189519G>T	ENST00000524782.1	-	12	1374	c.1146C>A	c.(1144-1146)gaC>gaA	p.D382E	ARFGAP2_ENST00000395449.3_Intron|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.D275E|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.D246E|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.D113E|RP11-390K5.6_ENST00000524412.1_RNA	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	382	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTCTACCCTGTCCATACCCC	0.478																																																	0													75	68	70					11																	47189519		2201	4299	6500	SO:0001583	missense	0			AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"ADP-ribosylation factor GTPase activating proteins"	13504	protein-coding gene	gene with protein product		606908	"zinc finger protein 289, ID1 regulated"	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1146C>A	11.37:g.47189519G>T	ENSP00000434442:p.Asp382Glu		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.D382E	ENST00000524782.1	37	c.1146	CCDS7926.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.907|9.907	1.208592|1.208592	0.22205|0.22205	.|.	.|.	ENSG00000149182|ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342;ENST00000527927|ENST00000527776	T;T;T;T;T;T|.	0.15017|.	3.57;3.67;3.31;3.42;2.46;2.9|.	6.02|6.02	4.15|4.15	0.48705|0.48705	.|.	0.084831|.	0.85682|.	D|.	0.000000|.	T|T	0.29524|0.29524	0.0736|0.0736	N|N	0.04636|0.04636	-0.2|-0.2	0.40890|0.40890	D|D	0.984065|0.984065	B;B;B|.	0.13145|.	0.007;0.004;0.002|.	B;B;B|.	0.17979|.	0.02;0.003;0.004|.	T|T	0.08722|0.08722	-1.0708|-1.0708	10|5	0.06365|.	T|.	0.9|.	-19.6883|-19.6883	8.2779|8.2779	0.31883|0.31883	0.1339:0.1293:0.7368:0.0|0.1339:0.1293:0.7368:0.0	.|.	275;246;382|.	B4DX29;G5E9L0;Q8N6H7|.	.;.;ARFG2_HUMAN|.	E|K	246;382;113;275;89;246|104	ENSP00000400226:D246E;ENSP00000434442:D382E;ENSP00000327309:D113E;ENSP00000389264:D275E;ENSP00000437305:D89E;ENSP00000434433:D246E|.	ENSP00000327309:D113E|.	D|Q	-|-	3|1	2|0	ARFGAP2|ARFGAP2	47146095|47146095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.270000|3.270000	0.51600|0.51600	0.876000|0.876000	0.35872|0.35872	0.655000|0.655000	0.94253|0.94253	GAC|CAG	ARFGAP2	-	NULL	ENSG00000149182		0.478	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP2	HGNC	protein_coding	OTTHUMT00000391425.1	-	0	72	0	G	NM_032389		47189519	-1	tier1	-	no_errors	ENST00000524782	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	47189519	G	T	47189519	3	4	9	1	0	0	0	0	1	0	0	0	850	1368	48	3	439	3	ARFGAP2	11	47189519	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	24805156	47189519	87816997	117	2521											
MS4A12	54860	genome.wustl.edu	37	chr11	60264806	60264806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacataatgatgtcatccaaGccaacaagccatgctgaagt	15	8	8	10	0	1	2	1	2	0	0	2	3	2	2	3	0	4	1	3	0	5	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:60264806G>T	ENST00000016913.4	+	2	72	c.15G>T	c.(13-15)aaG>aaT	p.K5N	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.K5N	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	5						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGTCATCCAAGCCAACAAGCC	0.388																																																	0													116	118	118					11																	60264806		2203	4300	6503	SO:0001583	missense	0			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.15G>T	11.37:g.60264806G>T	ENSP00000016913:p.Lys5Asn		F5GX98|Q8N6L4	Missense_Mutation	SNP	pfam_CD20-like	p.K5N	ENST00000016913.4	37	c.15	CCDS7988.1	11	.	.	.	.	.	.	.	.	.	.	G	5.331	0.246357	0.10130	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.47177	1.84;0.85;3.46;0.85	4.71	2.61	0.31194	.	3.163830	0.00777	N	0.001246	T	0.34832	0.0911	N	0.19112	0.55	0.09310	N	1	B;B	0.24258	0.1;0.015	B;B	0.20955	0.032;0.008	T	0.19289	-1.0310	10	0.17369	T	0.5	0.3387	9.2304	0.37432	0.0:0.0:0.5659:0.4341	.	5;5	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	N	5	ENSP00000440424:K5N;ENSP00000431959:K5N;ENSP00000016913:K5N;ENSP00000434783:K5N	ENSP00000016913:K5N	K	+	3	2	MS4A12	60021382	0.000000	0.05858	0.007000	0.13788	0.101000	0.19017	0.155000	0.16362	1.242000	0.43836	0.563000	0.77884	AAG	MS4A12	-	NULL	ENSG00000071203		0.388	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A12	HGNC	protein_coding	OTTHUMT00000383627.1		0	72	0	G			60264806	1			no_errors	ENST00000016913	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.002	T	T	60264806	G	T	60264806	3	4	9	1	0	0	0	0	1	0	0	0	9894	962	34	3	17	3	MS4A12	11	60264806	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	13075287	60264806	74741710	118	2522											
CHRM1	1128	genome.wustl.edu	37	chr11	62677888	62677888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccctttgcctggcgtctCggagccctgaagggctgcca	5	8	12	16	2	1	1	0	1	1	0	2	2	1	2	5	3	3	1	5	3	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:62677888C>T	ENST00000306960.3	-	2	1226	c.685G>A	c.(685-687)Gag>Aag	p.E229K	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	229					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CCTGGCGTCTCGGAGCCCTGA	0.647																																																	0													28	30	29					11																	62677888		2201	4298	6499	SO:0001583	missense	0			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1950	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 1"	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.685G>A	11.37:g.62677888C>T	ENSP00000306490:p.Glu229Lys		Q96RH1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.E229K	ENST00000306960.3	37	c.685	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	C	2.306	-0.359128	0.05138	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.59502	0.29;0.26	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.304612	0.24375	N	0.039063	T	0.31670	0.0804	N	0.04805	-0.155	0.35318	D	0.784503	P	0.40032	0.699	B	0.33568	0.166	T	0.42327	-0.9458	10	0.14252	T	0.57	-19.4515	14.6856	0.69047	0.0:1.0:0.0:0.0	.	229	P11229	ACM1_HUMAN	K	229	ENSP00000306490:E229K;ENSP00000441188:E229K	ENSP00000306490:E229K	E	-	1	0	CHRM1	62434464	0.237000	0.23815	0.964000	0.40570	0.378000	0.30076	1.587000	0.36622	2.329000	0.79093	0.563000	0.77884	GAG	CHRM1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000168539		0.647	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	HGNC	protein_coding	OTTHUMT00000396178.1	-	0	36	0	C	NM_000738		62677888	-1	tier1	-	no_errors	ENST00000306960	ensembl	human	known	74_37	missense	52.94	16	18	SNP	0.966	T	T	62677888	C	T	62677888	3	4	9	1	0	0	0	0	1	0	0	0	3383	893	31	1	701	1	CHRM1	11	62677888	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	2413082	62677888	72328628	119	2523											
SF3B2	10992	genome.wustl.edu	37	chr11	65824803	65824803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgggagcccctgttccccGgcctcgtggtcccccaccgc	3	7	11	20	3	0	0	0	0	0	0	3	1	2	1	8	3	1	1	8	3	0	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:65824803G>A	ENST00000322535.6	+	7	783	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	SF3B2_ENST00000528302.1_Missense_Mutation_p.R228Q	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	245					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTGTTCCCCGGCCTCGTGGT	0.542																																																	0													64	79	74					11																	65824803		2199	4294	6493	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.734G>A	11.37:g.65824803G>A	ENSP00000318861:p.Arg245Gln		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.R245Q	ENST00000322535.6	37	c.734	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497616	0.64186	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000530322	.	.	.	5.31	5.31	0.75309	.	0.224693	0.46758	D	0.000274	T	0.25382	0.0617	N	0.14661	0.345	0.32340	N	0.559922	P	0.48640	0.913	B	0.33799	0.17	T	0.41520	-0.9504	9	0.72032	D	0.01	-10.5252	16.8205	0.85744	0.0:0.0:1.0:0.0	.	245	Q13435	SF3B2_HUMAN	Q	228;245;243;244;239	.	ENSP00000318861:R245Q	R	+	2	0	SF3B2	65581379	0.982000	0.34865	0.964000	0.40570	0.993000	0.82548	4.791000	0.62460	2.643000	0.89663	0.650000	0.86243	CGG	SF3B2	-	NULL	ENSG00000087365		0.542	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	-	0	55	0	G			65824803	1	tier1	-	no_errors	ENST00000322535	ensembl	human	known	74_37	missense	39.53	25	17	SNP	0.645	A	A	65824803	G	A	65824803	3	1	9	1	0	0	0	0	1	0	0	0	14196	1116	39	1	760	1	SF3B2	11	65824803	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	3146915	65824803	69181713	120	2524											
FOLR3	2352	genome.wustl.edu	37	chr11	71847080	71847080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcccaggagtgcgCgggccaggacggacctgctc	6	4	16	15	3	0	0	0	0	0	0	1	3	0	3	4	4	4	1	4	4	0	0	rs1802609	byFrequency	TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:71847080C>T	ENST00000445078.2	+	2	147	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	FOLR3_ENST00000456237.1_Missense_Mutation_p.R28W|FOLR3_ENST00000442948.2_Missense_Mutation_p.R28W			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	26					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CAGGAGTGCGCGGGCCAGGAC	0.632																																																	0													104	111	108					11																	71847080		2199	4293	6492	SO:0001583	missense	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.76C>T	11.37:g.71847080C>T	ENSP00000390338:p.Arg26Trp		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.R28W	ENST00000445078.2	37	c.82		11	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616001	0.28801	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948;ENST00000546166	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	3.8	-2.15	0.07102	.	2.153630	0.03456	U	0.211514	T	0.66307	0.2776	.	.	.	0.09310	N	1	D;B	0.89917	1.0;0.009	P;B	0.61874	0.895;0.006	T	0.52975	-0.8503	9	0.35671	T	0.21	.	1.7779	0.03025	0.1358:0.4256:0.1337:0.3049	.	28;26	E9PGT2;P41439	.;FOLR3_HUMAN	W	26;28;28;26	ENSP00000390338:R26W;ENSP00000399235:R28W;ENSP00000411161:R28W;ENSP00000446279:R26W	ENSP00000325032:R26W	R	+	1	2	FOLR3	71524728	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.788000	0.01763	-1.072000	0.03141	0.491000	0.48974	CGG	FOLR3	-	NULL	ENSG00000110203		0.632	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	-	0	50	0	C	NM_000804		71847080	1	tier1	-	no_errors	ENST00000456237	ensembl	human	known	74_37	missense	17.54	47	10	SNP	0.000	T	T	71847080	C	T	71847080	3	4	9	1	0	0	0	0	1	0	0	0	6005	759	27	1	84	1	FOLR3	11	71847080	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	6022277	71847080	63159436	121	2525											
P2RY6	5031	genome.wustl.edu	37	chr11	73007861	73007861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggcgacttcgcctgcCgcctggtccgcttcctcttc	1	13	9	18	4	1	0	0	0	1	0	5	1	3	0	6	2	1	1	6	2	0	4	rs574690210		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:73007861C>T	ENST00000393590.2	+	2	597	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	P2RY6_ENST00000542092.1_Missense_Mutation_p.R100C|P2RY6_ENST00000540124.1_Missense_Mutation_p.R100C|P2RY6_ENST00000393592.2_Missense_Mutation_p.R100C|P2RY6_ENST00000349767.2_Missense_Mutation_p.R100C|P2RY6_ENST00000538328.1_Missense_Mutation_p.R100C|P2RY6_ENST00000540342.1_Missense_Mutation_p.R100C|P2RY6_ENST00000393591.1_Missense_Mutation_p.R100C	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	100					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTTCGCCTGCCGCCTGGTCCG	0.602													C|||	0	0	0	0	5008	,	,		19390	0		0	False		,,,				2504	0																0													137	122	127					11																	73007861		2200	4293	6493	SO:0001583	missense	0				CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.298C>T	11.37:g.73007861C>T	ENSP00000377215:p.Arg100Cys		Q15754	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt	p.R100C	ENST00000393590.2	37	c.298	CCDS8220.1	11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981482	0.53827	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000544437;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	4.36	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.138244	0.43919	D	0.000510	D	0.85801	0.5781	M	0.91140	3.18	0.46586	D	0.999118	D	0.89917	1.0	D	0.70935	0.971	D	0.84653	0.0702	10	0.87932	D	0	.	6.9765	0.24679	0.3231:0.5901:0.0:0.0868	.	100	Q15077	P2RY6_HUMAN	C	100	ENSP00000443427:R100C;ENSP00000445652:R100C;ENSP00000309771:R100C;ENSP00000377217:R100C;ENSP00000441079:R100C;ENSP00000377216:R100C;ENSP00000442551:R100C;ENSP00000377215:R100C;ENSP00000440770:R100C;ENSP00000442990:R100C	ENSP00000309771:R100C	R	+	1	0	P2RY6	72685509	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	2.254000	0.43214	0.566000	0.29273	0.491000	0.48974	CGC	P2RY6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171631		0.602	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	P2RY6	HGNC	protein_coding	OTTHUMT00000397349.1	-	0	50	0	C			73007861	1	tier1	-	no_errors	ENST00000349767	ensembl	human	known	74_37	missense	41.30	27	19	SNP	1.000	T	T	73007861	C	T	73007861	3	4	9	1	0	0	0	0	1	0	0	0	11393	652	23	1	300	1	P2RY6	11	73007861	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	1160781	73007861	61998655	122	2526											
PAK1	5058	genome.wustl.edu	37	chr11	77034400	77034400	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttggcaatcttcaggaaTtgatgctagaaaggagaaaa	15	9	12	5	0	2	3	1	1	1	2	2	5	2	4	0	4	1	3	0	4	6	4	rs114048423	byFrequency	TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:77034400T>A	ENST00000356341.3	-	15	2088	c.1557A>T	c.(1555-1557)caA>caT	p.Q519H	PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000530617.1_Intron|PAK1_ENST00000278568.4_Missense_Mutation_p.I536F|PAK1_ENST00000528203.1_Missense_Mutation_p.I438F	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q519Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TCTTCAGGAATTGATGCTAGA	0.433																																																	1	Substitution - coding silent(1)	lung(1)											152	123	133					11																	77034400		2200	4292	6492	SO:0001583	missense	0			U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"STE20 homolog, yeast"	602590	"p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)", "p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.1557A>T	11.37:g.77034400T>A	ENSP00000348696:p.Gln519His		O75561|Q13567|Q32M53|Q32M54|Q86W79	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.I536F	ENST00000356341.3	37	c.1606	CCDS8250.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.42|14.42	2.531502|2.531502	0.45073|0.45073	.|.	.|.	ENSG00000149269|ENSG00000149269	ENST00000278568;ENST00000528203|ENST00000356341	T;T|T	0.71222|0.13778	-0.55;-0.54|2.56	6.03|6.03	0.605|0.605	0.17553|0.17553	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	3.320980|.	0.00945|.	N|.	0.002896|.	T|T	0.18635|0.18635	0.0447|0.0447	L|L	0.46157|0.46157	1.445|1.445	0.30705|0.30705	N|N	0.749918|0.749918	B;B|B	0.19817|0.29232	0.023;0.039|0.238	B;B|B	0.23574|0.41510	0.021;0.047|0.359	T|T	0.31166|0.31166	-0.9953|-0.9953	10|9	0.54805|0.66056	T|D	0.06|0.02	.|.	10.9488|10.9488	0.47317|0.47317	0.0:0.7011:0.0:0.2989|0.0:0.7011:0.0:0.2989	.|.	438;536|519	E9PM17;Q13153-2|Q13153	.;.|PAK1_HUMAN	F|H	536;438|519	ENSP00000278568:I536F;ENSP00000433211:I438F|ENSP00000348696:Q519H	ENSP00000278568:I536F|ENSP00000348696:Q519H	I|Q	-|-	1|3	0|2	PAK1|PAK1	76712048|76712048	0.988000|0.988000	0.35896|0.35896	0.995000|0.995000	0.50966|0.50966	0.982000|0.982000	0.71751|0.71751	0.307000|0.307000	0.19296|0.19296	-0.136000|-0.136000	0.11475|0.11475	-0.290000|-0.290000	0.09829|0.09829	ATT|CAA	PAK1	-	NULL	ENSG00000149269		0.433	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1	HGNC	protein_coding	OTTHUMT00000382083.2	-	0	56	0	T	NM_002576		77034400	-1	tier1	-	no_errors	ENST00000278568	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	77034400	T	A	77034400	3	1	9	1	0	0	0	0	1	0	0	0	11438	1493	52	5	84	5	PAK1	11	77034400	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	4026539	77034400	57972116	123	2527											
PICALM	8301	genome.wustl.edu	37	chr11	85722153	85722153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaccttctttgcattGgttctttttcatatcaaaat	10	18	5	8	0	5	1	3	0	2	1	5	1	5	1	1	1	1	2	1	1	4	7			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:85722153G>T	ENST00000393346.3	-	7	833	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K	PICALM_ENST00000356360.5_Missense_Mutation_p.Q229K|PICALM_ENST00000528398.1_Missense_Mutation_p.Q178K|PICALM_ENST00000532317.1_Missense_Mutation_p.Q229K|PICALM_ENST00000526033.1_Missense_Mutation_p.Q229K			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	229	Interaction with FAM64A.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)	p.Q229*(1)		endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCTTTGCATTGGTTCTTTTTC	0.303			T	"MLLT10, MLL"	"TALL, AML, "																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	1	Substitution - Nonsense(1)	lung(1)											102	91	95					11																	85722153		2202	4298	6500	SO:0001583	missense	0			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.685C>A	11.37:g.85722153G>T	ENSP00000377015:p.Gln229Lys		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q229K	ENST00000393346.3	37	c.685	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879261	0.91740	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.58	5.58	0.84498	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	0.987;1.0;0.962;0.999	D;D;P;D	0.74348	0.967;0.983;0.829;0.983	T	0.71928	-0.4444	9	.	.	.	-9.6415	19.9313	0.97120	0.0:0.0:1.0:0.0	.	178;229;229;229	E9PN05;F8VPG7;Q13492;Q13492-3	.;.;PICAL_HUMAN;.	K	229;229;229;229;178;229	ENSP00000436958:Q229K;ENSP00000433846:Q229K;ENSP00000377015:Q229K;ENSP00000434884:Q178K;ENSP00000348718:Q229K	.	Q	-	1	0	PICALM	85399801	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.863000	0.87023	2.778000	0.95560	0.655000	0.94253	CAA	PICALM	-	pfam_ANTH_dom	ENSG00000073921		0.303	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1		0	40	0	G	NM_007166		85722153	-1			no_errors	ENST00000393346	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	85722153	G	T	85722153	3	4	9	1	0	0	0	0	1	0	0	0	11919	1357	47	3	1357	3	PICALM	11	85722153	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	8687753	85722153	49284363	124	2528											
ATM	472	genome.wustl.edu	37	chr11	108137916	108137916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcatccttcatcaaaaagCcatttgaccgtggagaagta	14	9	9	9	1	2	2	2	1	0	1	3	3	3	2	3	2	1	2	3	2	4	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:108137916C>T	ENST00000452508.2	+	18	2674	c.2485C>T	c.(2485-2487)Cca>Tca	p.P829S	ATM_ENST00000278616.4_Missense_Mutation_p.P829S|AP001925.1_ENST00000596081.1_5'Flank			Q13315	ATM_HUMAN	ATM serine/threonine kinase	829					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CATCAAAAAGCCATTTGACCG	0.408			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													105	92	97					11																	108137916		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2485C>T	11.37:g.108137916C>T	ENSP00000388058:p.Pro829Ser		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P829S	ENST00000452508.2	37	c.2485	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	10.74	1.434430	0.25813	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.01685	4.69;4.98;4.98	5.32	4.4	0.53042	Armadillo-type fold (1);	0.333863	0.34025	N	0.004321	T	0.02156	0.0067	M	0.67953	2.075	0.22693	N	0.998849	B	0.15719	0.014	B	0.12837	0.008	T	0.51301	-0.8723	10	0.05525	T	0.97	.	8.1037	0.30872	0.0:0.7532:0.1612:0.0856	.	829	Q13315	ATM_HUMAN	S	829	ENSP00000435747:P829S;ENSP00000278616:P829S;ENSP00000388058:P829S	ENSP00000278616:P829S	P	+	1	0	ATM	107643126	0.995000	0.38212	0.996000	0.52242	0.664000	0.39144	1.635000	0.37134	2.469000	0.83416	0.655000	0.94253	CCA	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.408	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	50	0	C	NM_000051		108137916	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	108137916	C	T	108137916	3	4	9	1	0	0	0	0	1	0	0	0	1110	739	26	3	2547	3	ATM	11	108137916	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	22415763	108137916	26868600	125	2529											
HTR3B	9177	genome.wustl.edu	37	chr11	113803807	113803807	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggatttgcacagattCagtttaatgtaggttcttta	10	16	10	5	0	2	1	1	0	1	1	2	3	2	3	0	3	1	4	0	3	3	8	rs370926260		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:113803807C>T	ENST00000260191.2	+	6	945	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	HTR3B_ENST00000537778.1_Nonsense_Mutation_p.Q219*	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	230					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	TGCACAGATTCAGTTTAATGT	0.483																																																	0								C	stop/GLN	0,4402		0,0,2201	109	99	103		688	5.7	1	11		103	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained	HTR3B	NM_006028.4		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		230/442	113803807	1,12993	2201	4296	6497	SO:0001587	stop_gained	0			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5298	protein-coding gene	gene with protein product		604654	"5-hydroxytryptamine (serotonin) receptor 3B"			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.688C>T	11.37:g.113803807C>T	ENSP00000260191:p.Gln230*		B0YJ23|Q0VJC3	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.Q230*	ENST00000260191.2	37	c.688	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.528372	0.98339	0.0	1.16E-4	ENSG00000149305	ENST00000260191;ENST00000537778	.	.	.	5.65	5.65	0.86999	.	0.120924	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-5.1798	14.1014	0.65059	0.1509:0.8491:0.0:0.0	.	.	.	.	X	230;219	.	ENSP00000260191:Q230X	Q	+	1	0	HTR3B	113309017	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.519000	0.35888	2.941000	0.99782	0.655000	0.94253	CAG	HTR3B	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000149305		0.483	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	HGNC	protein_coding	OTTHUMT00000398842.1	-	0	75	0	C	NM_006028		113803807	1	tier1	-	no_errors	ENST00000260191	ensembl	human	known	74_37	nonsense	21.62	58	16	SNP	1.000	T	T	113803807	C	T	113803807	4	4	9	1	0	0	0	0	0	1	0	0	7472	827	29	3	710	3	HTR3B	11	113803807	Nonsense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	5665891	113803807	21202709	126	2530											
APOC3	345	genome.wustl.edu	37	chr11	116703493	116703493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatttaggggctgggtgaccGatggcttcagttccctgaaa	8	11	14	8	1	1	2	1	2	0	0	2	4	2	2	2	4	0	3	2	4	2	4	rs149707394		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:116703493G>A	ENST00000227667.3	+	4	255	c.193G>A	c.(193-195)Gat>Aat	p.D65N	APOC3_ENST00000375345.1_Missense_Mutation_p.D83N	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III	65					cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTGGGTGACCGATGGCTTCAG	0.557																																					GBM(81;259 1650 7161 35190)												0			GRCh37	CM942307	APOC3	M	rs149707394	G	ASN/ASP	0,4402		0,0,2201	150	136	141		193	0	0	11	dbSNP_134	141	2,8590	2.2+/-6.3	0,2,4294	no	missense	APOC3	NM_000040.1	23	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	65/100	116703493	2,12992	2201	4296	6497	SO:0001583	missense	0			X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"Apolipoproteins"	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.193G>A	11.37:g.116703493G>A	ENSP00000227667:p.Asp65Asn		Q08E83|Q6Q786	Missense_Mutation	SNP	pfam_Apo-CIII	p.D65N	ENST00000227667.3	37	c.193	CCDS8377.1	11	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384567	0.61845	0.0	2.33E-4	ENSG00000110245	ENST00000227667;ENST00000375345	D;D	0.87029	-2.2;-2.2	5.04	-0.00653	0.14013	.	1.097390	0.07192	N	0.855884	T	0.74839	0.3769	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.18561	0.022	T	0.56347	-0.7994	9	0.15066	T	0.55	-0.0993	7.4726	0.27357	0.4637:0.0:0.5363:0.0	.	65	P02656	APOC3_HUMAN	N	65;83	ENSP00000227667:D65N;ENSP00000364494:D83N	ENSP00000227667:D65N	D	+	1	0	APOC3	116208703	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	0.506000	0.22658	-0.152000	0.11156	0.555000	0.69702	GAT	APOC3	-	pfam_Apo-CIII	ENSG00000110245		0.557	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC3	HGNC	protein_coding	OTTHUMT00000106284.2	-	0	97	0	G	NM_000040		116703493	1	tier1	rs149707394	no_errors	ENST00000227667	ensembl	human	known	74_37	missense	26.37	67	24	SNP	0.000	A	A	116703493	G	A	116703493	3	1	9	1	0	0	0	0	1	0	0	0	799	1058	37	1	203	1	APOC3	11	116703493	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2899686	116703493	18303023	127	2531											
SCN3B	55800	genome.wustl.edu	37	chr11	123513207	123513207	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcttcacaaagggccgaTgcgcctcaaactcaaactcc	11	8	7	15	3	4	0	3	0	1	0	6	1	5	0	3	1	3	0	3	1	3	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:123513207T>A	ENST00000392770.2	-	3	1194	c.392A>T	c.(391-393)cAt>cTt	p.H131L	SCN3B_ENST00000299333.3_Missense_Mutation_p.H131L|SCN3B_ENST00000530277.1_Missense_Mutation_p.H131L	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	131	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGGGCCGATGCGCCTCAAA	0.592																																																	0													96	87	90					11																	123513207		2202	4299	6501	SO:0001583	missense	0			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.392A>T	11.37:g.123513207T>A	ENSP00000376523:p.His131Leu		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.H131L	ENST00000392770.2	37	c.392	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913641	0.72983	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.189308	0.56097	D	0.000022	T	0.60340	0.2261	L	0.47716	1.5	0.52099	D	0.999948	P	0.34462	0.454	B	0.37780	0.258	T	0.58792	-0.7574	10	0.37606	T	0.19	-18.4243	16.5655	0.84588	0.0:0.0:0.0:1.0	.	131	Q9NY72	SCN3B_HUMAN	L	131	ENSP00000376523:H131L;ENSP00000299333:H131L;ENSP00000432785:H131L;ENSP00000435554:H131L	ENSP00000299333:H131L	H	-	2	0	SCN3B	123018417	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.093000	0.50217	2.302000	0.77476	0.533000	0.62120	CAT	SCN3B	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000166257		0.592	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	-	0	54	0	T	NM_018400		123513207	-1	tier1	-	no_errors	ENST00000299333	ensembl	human	known	74_37	missense	40.62	38	26	SNP	1.000	A	A	123513207	T	A	123513207	3	1	9	1	0	0	0	0	1	0	0	0	13964	1464	51	5	267	5	SCN3B	11	123513207	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	6809714	123513207	11493309	128	2532											
OPCML	4978	genome.wustl.edu	37	chr11	132527063	132527063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacggaccttcgtcatacaCatccacattttggatcatga	11	12	7	11	2	2	1	2	1	0	0	4	3	3	3	2	2	2	1	2	2	2	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr11:132527063C>G	ENST00000331898.7	-	2	897	c.319G>C	c.(319-321)Gtg>Ctg	p.V107L	OPCML_ENST00000541867.1_Missense_Mutation_p.V107L|OPCML_ENST00000524381.1_Missense_Mutation_p.V100L|OPCML_ENST00000374778.4_Missense_Mutation_p.V66L|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	107	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCGTCATACACATCCACATTT	0.498																																																	0													255	195	215					11																	132527063		2201	4297	6498	SO:0001583	missense	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.319G>C	11.37:g.132527063C>G	ENSP00000330862:p.Val107Leu		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V107L	ENST00000331898.7	37	c.319	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252937	0.39797	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.144593	0.45606	D	0.000348	T	0.18341	0.0440	N	0.22421	0.69	0.32524	N	0.535804	B;B;B;B	0.19817	0.039;0.022;0.022;0.022	B;B;B;B	0.26969	0.075;0.075;0.075;0.075	T	0.11372	-1.0590	10	0.38643	T	0.18	-12.165	9.8141	0.40842	0.0:0.8107:0.0:0.1893	.	107;100;107;107	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	L	107;100;66;74;107	ENSP00000330862:V107L;ENSP00000434750:V100L;ENSP00000363910:V66L;ENSP00000445496:V107L	ENSP00000330862:V107L	V	-	1	0	OPCML	132032273	0.982000	0.34865	1.000000	0.80357	0.984000	0.73092	2.014000	0.40951	2.762000	0.94881	0.655000	0.94253	GTG	OPCML	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000183715		0.498	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	-	0	68	0	C	NM_001012393		132527063	-1	tier1	-	no_errors	ENST00000541867	ensembl	human	known	74_37	missense	22.95	47	14	SNP	0.994	G	G	132527063	C	G	132527063	3	3	9	1	0	0	0	0	1	0	0	0	10913	478	17	5	742	5	OPCML	11	132527063	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	9013856	132527063	2479453	129	2533											
KCNA5	3741	genome.wustl.edu	37	chr12	5153505	5153505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacgcggactcgggagtGcggcccttgcctccgctgcc	5	6	15	15	5	0	1	0	0	0	1	2	4	1	3	4	3	3	1	4	3	0	1	rs144879674|rs71581015	byFrequency	TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:5153505G>A	ENST00000252321.3	+	1	421	c.192G>A	c.(190-192)gtG>gtA	p.V64V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	64	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.				atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	ACTCGGGAGTGCGGCCCTTGC	0.756																																																	0													4	6	5					12																	5153505		1950	3857	5807	SO:0001819	synonymous_variant	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.192G>A	12.37:g.5153505G>A			Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.V64	ENST00000252321.3	37	c.192	CCDS8536.1	12																																																																																			KCNA5	-	prints_K_chnl_volt-dep_Kv1.5	ENSG00000130037		0.756	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	30	0	G	NM_002234		5153505	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	silent	45.83	13	11	SNP	0.000	A	A	5153505	G	A	5153505	2	1	9	1	0	0	0	0	0	0	0	1	8033	1306	46	3		3	KCNA5	12	5153505	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		5153505	128698390	130	2534											
ATN1	1822	genome.wustl.edu	37	chr12	7044758	7044758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgatctggatagcttggacGggcggagccttaatgatgat	9	10	14	8	3	1	2	0	2	1	0	1	6	1	5	2	4	2	1	2	4	2	3	rs201715319		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:7044758G>A	ENST00000356654.4	+	5	565	c.328G>A	c.(328-330)Ggg>Agg	p.G110R	ATN1_ENST00000396684.2_Missense_Mutation_p.G110R	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	110		Cleavage.			cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TAGCTTGGACGGGCGGAGCCT	0.537																																																	0													124	97	106					12																	7044758		2203	4300	6503	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.328G>A	12.37:g.7044758G>A	ENSP00000349076:p.Gly110Arg		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.G110R	ENST00000356654.4	37	c.328	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665600	0.67700	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.05081	3.5;3.5;3.5	3.95	3.95	0.45737	.	0.000000	0.32503	U	0.006009	T	0.14056	0.0340	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.13980	-1.0489	10	0.49607	T	0.09	.	16.5623	0.84569	0.0:0.0:1.0:0.0	.	110;110	Q86V38;P54259	.;ATN1_HUMAN	R	110	ENSP00000349076:G110R;ENSP00000379915:G110R;ENSP00000441744:G110R	ENSP00000349076:G110R	G	+	1	0	ATN1	6915019	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.221000	0.51215	2.199000	0.70637	0.460000	0.39030	GGG	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.537	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	-	0	82	0	G	NM_001940		7044758	1	tier1	-	no_errors	ENST00000356654	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	A	A	7044758	G	A	7044758	3	1	9	1	0	0	0	0	1	0	0	0	1112	1116	39	1	342	1	ATN1	12	7044758	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1891253	7044758	126807137	131	2535											
TAS2R20	259295	genome.wustl.edu	37	chr12	11150474	11150474	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtagaaaactcatcaTgtctaaacaaaaaagcaagt	20	9	6	6	0	3	1	2	0	1	1	3	1	3	1	0	0	3	2	0	0	10	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:11150474T>C	ENST00000538986.1	-	1	0	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	1					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AAACTCATCATGTCTAAACAA	0.328																																																	0													18	20	19					12																	11150474		2197	4289	6486	SO:0001630	splice_region_variant	0			AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19109	protein-coding gene	gene with protein product		613962	"taste receptor, type 2, member 49"	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.1-1A>G	12.37:g.11150474T>C			P59549|Q2HIZ4|Q496D8|Q645X9	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.M1V	ENST00000538986.1	37	c.1	CCDS8639.1	12	.	.	.	.	.	.	.	.	.	.	T	8.560	0.877616	0.17395	.	.	ENSG00000255837	ENST00000538986	T	0.02121	4.44	3.06	0.476	0.16779	.	0.067037	0.53938	U	0.000048	T	0.02610	0.0079	.	.	.	0.09310	N	0.99999	P	0.35944	0.529	B	0.41619	0.361	T	0.39502	-0.9611	9	0.87932	D	0	.	3.0722	0.06235	0.0:0.259:0.2255:0.5156	.	1	P59543	T2R20_HUMAN	V	1	ENSP00000441624:M1V	ENSP00000441624:M1V	M	-	1	0	TAS2R20	11041741	0.061000	0.20836	0.003000	0.11579	0.031000	0.12232	1.270000	0.33086	-0.094000	0.12374	0.477000	0.44152	ATG	TAS2R20	-	pfam_TAS2_rcpt	ENSG00000255837		0.328	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R20	HGNC	protein_coding	OTTHUMT00000370130.2	-	0	8	0	T	NM_176889	Missense_Mutation	11150474	-1	tier1	-	no_errors	ENST00000538986	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.014	C	C	11150474	T	C	11150474	5	2	9	1	0	0	0	0	0	0	1	0	15618	1478	51	4	932	4	TAS2R20	12	11150474	Splice_Site	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	4105716	11150474	122701421	132	2536											
ITPR2	3709	genome.wustl.edu	37	chr12	26750058	26750058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagcacgtcttcaccccCatttatcaactgaaatgata	13	12	4	12	1	4	2	3	2	1	0	4	2	4	2	2	0	2	1	2	0	5	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:26750058C>T	ENST00000381340.3	-	31	4428	c.4012G>A	c.(4012-4014)Ggg>Agg	p.G1338R		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1338					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.G1338W(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TCTTCACCCCCATTTATCAAC	0.408																																																	1	Substitution - Missense(1)	lung(1)											150	140	143					12																	26750058		1917	4135	6052	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4012G>A	12.37:g.26750058C>T	ENSP00000370744:p.Gly1338Arg		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.G1338R	ENST00000381340.3	37	c.4012	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929393	0.73327	.	.	ENSG00000123104	ENST00000381340	D	0.95171	-3.63	4.3	3.33	0.38152	Intracellular calcium-release channel (1);	0.120408	0.56097	D	0.000027	D	0.94673	0.8282	L	0.47716	1.5	0.80722	D	1	D	0.57899	0.981	D	0.65573	0.936	D	0.91949	0.5569	10	0.22109	T	0.4	.	12.2914	0.54820	0.2744:0.7256:0.0:0.0	.	1338	Q14571	ITPR2_HUMAN	R	1338	ENSP00000370744:G1338R	ENSP00000370744:G1338R	G	-	1	0	ITPR2	26641325	0.996000	0.38824	0.999000	0.59377	0.997000	0.91878	3.718000	0.54919	2.371000	0.80710	0.555000	0.69702	GGG	ITPR2	-	pfam_Ca-rel_channel,superfamily_ARM-type_fold	ENSG00000123104		0.408	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1		0	59	0	C	NM_002223		26750058	-1			no_errors	ENST00000381340	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.996	T	T	26750058	C	T	26750058	3	4	9	1	0	0	0	0	1	0	0	0	7948	594	21	3	4201	3	ITPR2	12	26750058	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	15599584	26750058	107101837	133	2537											
C12orf35	55196	genome.wustl.edu	37	chr12	32135664	32135664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctttgctttcacaggcacGtaagactcagaagacagtat	12	10	9	10	2	2	3	2	0	0	3	2	3	2	3	0	1	1	5	0	1	3	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:32135664G>A	ENST00000312561.4	+	4	2189	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	592																	TCACAGGCACGTAAGACTCAG	0.353																																																	0													36	37	37					12																	32135664		2203	4299	6502	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1775G>A	12.37:g.32135664G>A	ENSP00000310338:p.Arg592His		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.R592H	ENST00000312561.4	37	c.1775	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	9.079	0.998876	0.19121	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.05925	4.01;3.37	4.46	-3.92	0.04155	.	2.166970	0.02353	N	0.076177	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41106	-0.9527	9	.	.	.	.	5.8189	0.18516	0.4641:0.0:0.4044:0.1315	.	592	Q9HCM1	CL035_HUMAN	H	592	ENSP00000310338:R592H;ENSP00000370442:R592H	.	R	+	2	0	C12orf35	32026931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.304000	0.19228	-0.518000	0.06452	-1.264000	0.01445	CGT	KIAA1551	-	NULL	ENSG00000174718		0.353	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	65	0	G	NM_018169		32135664	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	A	A	32135664	G	A	32135664	3	1	9	1	0	0	0	0	1	0	0	0	1687	1145	40	1	1777	1	C12orf35	12	32135664	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5385606	32135664	101716231	134	2538											
LRRK2	120892	genome.wustl.edu	37	chr12	40631771	40631771	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattattctctttaaaatagGtaaaatcaccttgctgatat	14	17	4	6	0	2	1	1	1	1	0	3	1	2	1	1	1	1	2	1	1	8	9			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:40631771G>A	ENST00000298910.7	+	5	495	c.437G>A	c.(436-438)gGt>gAt	p.G146D	LRRK2_ENST00000343742.2_Splice_Site_p.G146D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	146					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.G146D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTAAAATAGGTAAAATCACC	0.303																																																	2	Substitution - Missense(2)	NS(2)											76	79	78					12																	40631771		2202	4300	6502	SO:0001630	splice_region_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.437-1G>A	12.37:g.40631771G>A			A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.G146D	ENST00000298910.7	37	c.437	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	6.407	0.443198	0.12164	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.20069	2.1;2.1;2.1	5.27	4.27	0.50696	.	0.125717	0.53938	D	0.000059	T	0.06188	0.0160	N	0.02011	-0.69	0.37613	D	0.921021	B	0.15141	0.012	B	0.16289	0.015	T	0.32955	-0.9887	9	.	.	.	.	4.136	0.10170	0.3217:0.0:0.6783:0.0	.	146	Q5S007	LRRK2_HUMAN	D	75;146;146	ENSP00000398726:G75D;ENSP00000341930:G146D;ENSP00000298910:G146D	.	G	+	2	0	LRRK2	38918038	1.000000	0.71417	0.985000	0.45067	0.883000	0.51084	4.692000	0.61746	2.473000	0.83533	0.563000	0.77884	GGT	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.303	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	71	0	G	XM_058513	Missense_Mutation	40631771	1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A	A	40631771	G	A	40631771	5	1	9	1	0	0	0	0	0	0	1	0	9068	1275	44	3	455	3	LRRK2	12	40631771	Splice_Site	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	8496107	40631771	93220124	135	2539											
MLL2	8085	genome.wustl.edu	37	chr12	49422664	49422664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacacctcacttcctttgcCcttttcccaagttgtgacag	7	14	6	14	0	1	2	1	2	0	0	3	2	3	2	4	0	1	1	4	0	1	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:49422664C>T	ENST00000301067.7	-	45	14328	c.14329G>A	c.(14329-14331)Ggc>Agc	p.G4777S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4777					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTTCCTTTGCCCTTTTCCCAA	0.542																																																	0													154	161	159					12																	49422664		2000	4168	6168	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14329G>A	12.37:g.49422664C>T	ENSP00000301067:p.Gly4777Ser		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G4777S	ENST00000301067.7	37	c.14329	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667609	0.29604	.	.	ENSG00000167548	ENST00000301067	T	0.78816	-1.21	5.04	3.19	0.36642	.	0.427611	0.17413	N	0.175107	T	0.52613	0.1745	N	0.02315	-0.6	0.27963	N	0.936698	B	0.14438	0.01	B	0.15484	0.013	T	0.52601	-0.8554	10	0.87932	D	0	.	8.5753	0.33595	0.0:0.817:0.0:0.183	.	4777	O14686	MLL2_HUMAN	S	4777	ENSP00000301067:G4777S	ENSP00000301067:G4777S	G	-	1	0	MLL2	47708931	0.983000	0.35010	1.000000	0.80357	0.460000	0.32559	0.586000	0.23894	1.273000	0.44346	0.462000	0.41574	GGC	KMT2D	-	NULL	ENSG00000167548		0.542	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	31	0	C			49422664	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	49422664	C	T	49422664	3	4	9	1	0	0	0	0	1	0	0	0	9659	623	22	3	2324	3	MLL2	12	49422664	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	8790893	49422664	84429231	136	2540											
C12orf26	84190	genome.wustl.edu	37	chr12	82796879	82796879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggttgttgctaccacctcTtatctgaagaatttgaaaac	11	14	8	8	0	2	3	0	2	2	1	2	3	2	3	2	1	3	3	2	1	6	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:82796879T>A	ENST00000248306.3	+	5	1318	c.1249T>A	c.(1249-1251)Tta>Ata	p.L417I	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	417							methyltransferase activity (GO:0008168)										CTACCACCTCTTATCTGAAGA	0.368																																																	0													92	88	89					12																	82796879		2203	4300	6503	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.1249T>A	12.37:g.82796879T>A	ENSP00000248306:p.Leu417Ile		Q9H5Y3	Missense_Mutation	SNP	NULL	p.L417I	ENST00000248306.3	37	c.1249	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772267	0.69992	.	.	ENSG00000127720	ENST00000248306;ENST00000550298	T;T	0.56444	0.46;0.46	5.49	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.68751	0.3035	M	0.80422	2.495	0.45427	D	0.998404	D	0.64830	0.994	D	0.66084	0.941	T	0.67848	-0.5564	10	0.39692	T	0.17	-10.013	9.6053	0.39630	0.0:0.1442:0.0:0.8558	.	417	Q8N6Q8	CL026_HUMAN	I	417;52	ENSP00000248306:L417I;ENSP00000449730:L52I	ENSP00000248306:L417I	L	+	1	2	C12orf26	81321010	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	2.175000	0.42491	0.864000	0.35578	0.482000	0.46254	TTA	METTL25	-	NULL	ENSG00000127720		0.368	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	-	0	69	0	T	NM_032230		82796879	1	tier1	-	no_errors	ENST00000248306	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	A	A	82796879	T	A	82796879	3	1	9	1	0	0	0	0	1	0	0	0	1684	1606	56	5	1267	5	C12orf26	12	82796879	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	33374215	82796879	51055016	137	2541											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85517975	85517975	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaagaaagatgaatcaGaagcccagaaaaatcatttg	19	7	7	8	0	3	5	3	1	0	4	3	5	3	5	2	0	1	0	2	0	6	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:85517975G>T	ENST00000393217.2	+	17	3746	c.3685G>T	c.(3685-3687)Gaa>Taa	p.E1229*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1229										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGATGAATCAGAAGCCCAGAA	0.418																																																	0													99	104	102					12																	85517975		2203	4300	6503	SO:0001587	stop_gained	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3685G>T	12.37:g.85517975G>T	ENSP00000376910:p.Glu1229*		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1229*	ENST00000393217.2	37	c.3685	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.453099	0.97581	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	5.61	2.71	0.32032	.	0.373373	0.24328	N	0.039484	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	8.6986	0.34312	0.2443:0.0:0.7557:0.0	.	.	.	.	X	1229;1204;1229	.	ENSP00000256007:E1229X	E	+	1	0	LRRIQ1	84042106	0.909000	0.30893	0.001000	0.08648	0.342000	0.28953	1.660000	0.37397	0.272000	0.22027	0.585000	0.79938	GAA	LRRIQ1	-	NULL	ENSG00000133640		0.418	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	52	0	G	NM_032165		85517975	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	nonsense	12.50	19	3	SNP	0.210	T	T	85517975	G	T	85517975	4	4	9	1	0	0	0	0	0	1	0	0	9064	943	33	3	3747	3	LRRIQ1	12	85517975	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	2721096	85517975	48333920	138	2542											
HAL	3034	genome.wustl.edu	37	chr12	96379931	96379931	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtgaggtcgaagagcAtgaatgtctagaattgatga	13	9	13	6	2	1	6	0	4	1	2	2	7	1	6	1	2	1	1	1	2	4	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:96379931A>G	ENST00000261208.3	-	13	1427	c.1059T>C	c.(1057-1059)caT>caC	p.H353H	HAL_ENST00000538703.1_Silent_p.H353H|HAL_ENST00000541929.1_Silent_p.H145H	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	353					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTCGAAGAGCATGAATGTCTA	0.423																																					NSCLC(169;943 2815 23563 30031)												0													93	81	85					12																	96379931		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1059T>C	12.37:g.96379931A>G			B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.H353	ENST00000261208.3	37	c.1059	CCDS9058.1	12																																																																																			HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	ENSG00000084110		0.423	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	-	0	43	0	A			96379931	-1	tier1	-	no_errors	ENST00000261208	ensembl	human	known	74_37	silent	34.69	32	17	SNP	0.994	G	G	96379931	A	G	96379931	2	3	9	1	0	0	0	0	0	0	0	1	6974	214	8	4		4	HAL	12	96379931	Silent	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	10861956	96379931	37471964	139	2543											
VSIG10	54621	genome.wustl.edu	37	chr12	118517313	118517313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttctatccacaggaagtCagggtcagggtatcccccat	9	10	9	13	0	4	0	2	0	2	0	6	1	6	1	3	3	0	1	3	3	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:118517313C>T	ENST00000359236.5	-	4	1039	c.763G>A	c.(763-765)Gac>Aac	p.D255N	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	255	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CACAGGAAGTCAGGGTCAGGG	0.567																																																	0													112	116	114					12																	118517313		2023	4200	6223	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.763G>A	12.37:g.118517313C>T	ENSP00000352172:p.Asp255Asn		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.D255N	ENST00000359236.5	37	c.763	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204402	0.22205	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.14516	2.5;2.5	6.14	-6.9	0.01655	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.035180	0.02082	N	0.052454	T	0.08537	0.0212	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26916	-1.0089	10	0.18276	T	0.48	-2.9229	9.4634	0.38798	0.084:0.1:0.084:0.7321	.	255	Q8N0Z9	VSI10_HUMAN	N	255;154	ENSP00000352172:D255N;ENSP00000442861:D154N	ENSP00000352172:D255N	D	-	1	0	VSIG10	117001696	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	-0.172000	0.09868	-1.200000	0.02662	-0.898000	0.02899	GAC	VSIG10	-	pfscan_Ig-like_dom	ENSG00000176834		0.567	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	-	0	46	0	C	NM_019086		118517313	-1	tier1	-	no_errors	ENST00000359236	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.000	T	T	118517313	C	T	118517313	3	4	9	1	0	0	0	0	1	0	0	0	17272	826	29	3	883	3	VSIG10	12	118517313	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	22137382	118517313	15334582	140	2544			2	3		2	2	15	C		9.813237e-05
VSIG10	54621	genome.wustl.edu	37	chr12	118517327	118517327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaagtcagggtcagggtatCccccatcccagcgacaggta	10	6	13	12	1	2	0	2	0	0	0	4	2	4	1	3	4	1	2	3	4	3	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr12:118517327C>T	ENST00000359236.5	-	4	1025	c.749G>A	c.(748-750)gGa>gAa	p.G250E	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	250	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTCAGGGTATCCCCCATCCCA	0.572																																																	0													117	121	119					12																	118517327		2042	4195	6237	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.749G>A	12.37:g.118517327C>T	ENSP00000352172:p.Gly250Glu		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G250E	ENST00000359236.5	37	c.749	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.108087	0.94292	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.17370	2.28;2.28	6.14	6.14	0.99180	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000358	T	0.48960	0.1529	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43523	-0.9386	10	0.87932	D	0	-24.7291	20.8597	0.99761	0.0:1.0:0.0:0.0	.	250	Q8N0Z9	VSI10_HUMAN	E	250;149	ENSP00000352172:G250E;ENSP00000442861:G149E	ENSP00000352172:G250E	G	-	2	0	VSIG10	117001710	0.994000	0.37717	0.999000	0.59377	0.993000	0.82548	5.275000	0.65575	2.937000	0.99478	0.650000	0.86243	GGA	VSIG10	-	pfscan_Ig-like_dom	ENSG00000176834		0.572	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	-	0	51	0	C	NM_019086		118517327	-1	tier1	-	no_errors	ENST00000359236	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.999	T	T	118517327	C	T	118517327	3	4	9	1	0	0	0	0	1	0	0	0	17272	855	30	3	897	3	VSIG10	12	118517327	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	14	118517327	15334568	141	2545			2	3		2	2	15	C		9.813237e-05
FREM2	341640	genome.wustl.edu	37	chr13	39264040	39264040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgagacagagttgcaCgtgaatgatgtagacactga	13	9	13	6	1	0	7	0	5	0	3	0	8	0	7	0	0	1	3	0	0	2	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr13:39264040C>T	ENST00000280481.7	+	1	2775	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502																																																	0													116	107	110					13																	39264040		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2559C>T	13.37:g.39264040C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.H853	ENST00000280481.7	37	c.2559	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	50	0	C	NM_207361		39264040	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	silent	35.29	22	12	SNP	1.000	T	T	39264040	C	T	39264040	2	4	9	1	0	0	0	0	0	0	0	1	6069	535	19	1		1	FREM2	13	39264040	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		39264040	75905838	142	2546											
ITM2B	9445	genome.wustl.edu	37	chr13	48807528	48807528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgttcaactccgctctggCccagaaggaggccaagaagg	11	5	13	12	2	2	2	1	0	1	2	3	4	3	3	3	4	1	2	3	4	4	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr13:48807528C>T	ENST00000378565.5	+	1	235	c.32C>T	c.(31-33)gCc>gTc	p.A11V	ITM2B_ENST00000378549.5_Missense_Mutation_p.A11V	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	11					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TCCGCTCTGGCCCAGAAGGAG	0.741																																																	0													11	10	10					13																	48807528		2153	4245	6398	SO:0001583	missense	0			AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"BRICHOS domain containing"	6174	protein-coding gene	gene with protein product	"BRICHOS domain containing 2B"	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.32C>T	13.37:g.48807528C>T	ENSP00000367828:p.Ala11Val		Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.A11V	ENST00000378565.5	37	c.32	CCDS9409.1	13	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570249	0.86542	.	.	ENSG00000136156	ENST00000378565;ENST00000378549	T;T	0.46063	0.99;0.88	5.04	5.04	0.67666	.	0.130895	0.50627	D	0.000118	T	0.37812	0.1017	L	0.47716	1.5	0.34835	D	0.740047	B	0.31383	0.321	B	0.30251	0.113	T	0.54781	-0.8242	10	0.59425	D	0.04	-1.2075	13.8841	0.63698	0.0:1.0:0.0:0.0	.	11	Q9Y287	ITM2B_HUMAN	V	11	ENSP00000367828:A11V;ENSP00000367811:A11V	ENSP00000367811:A11V	A	+	2	0	ITM2B	47705529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.929000	0.56514	2.333000	0.79357	0.561000	0.74099	GCC	ITM2B	-	NULL	ENSG00000136156		0.741	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITM2B	HGNC	protein_coding	OTTHUMT00000044870.3	-	0	70	0	C	NM_021999		48807528	1	tier1	-	no_errors	ENST00000378565	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	48807528	C	T	48807528	3	4	9	1	0	0	0	0	1	0	0	0	7940	739	26	3	34	3	ITM2B	13	48807528	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	9543488	48807528	66362350	143	2547											
CLYBL	171425	genome.wustl.edu	37	chr13	100511232	100511232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagaagacctagagaccCttttgcaatcccgggtcctt	10	9	10	12	2	0	3	0	0	0	3	2	5	2	4	4	2	1	1	4	2	4	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr13:100511232C>G	ENST00000376360.1	+	3	394	c.367C>G	c.(367-369)Ctt>Gtt	p.L123V	CLYBL_ENST00000376354.1_Missense_Mutation_p.L123V|CLYBL_ENST00000339105.4_Missense_Mutation_p.L123V|CLYBL_ENST00000444838.2_Missense_Mutation_p.L123V|CLYBL_ENST00000376355.3_Missense_Mutation_p.L123V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	123						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTAGAGACCCTTTTGCAATC	0.463																																																	0													81	76	78					13																	100511232		2203	4300	6503	SO:0001583	missense	0			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.367C>G	13.37:g.100511232C>G	ENSP00000365538:p.Leu123Val		Q5W0F7|Q8TDH8	Missense_Mutation	SNP	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta	p.L123V	ENST00000376360.1	37	c.367	CCDS32002.1	13	.	.	.	.	.	.	.	.	.	.	C	7.573	0.667135	0.14710	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000416504;ENST00000443887	T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.91	3.15	0.36227	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.215069	0.47455	D	0.000240	T	0.15305	0.0369	N	0.04820	-0.15	0.35552	D	0.803986	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.17098	0.017;0.004;0.014	T	0.18745	-1.0327	10	0.08837	T	0.75	-14.2139	8.6868	0.34243	0.511:0.4199:0.0:0.0691	.	123;123;123	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	V	123;123;123;123;123;40;40	ENSP00000365533:L123V;ENSP00000365538:L123V;ENSP00000404768:L123V;ENSP00000365532:L123V;ENSP00000342991:L123V;ENSP00000403408:L40V;ENSP00000401586:L40V	ENSP00000342991:L123V	L	+	1	0	CLYBL	99309233	0.066000	0.20996	0.006000	0.13384	0.937000	0.57800	0.359000	0.20233	0.351000	0.24027	0.655000	0.94253	CTT	CLYBL	-	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,pirsf_Citrate_lyase_beta	ENSG00000125246		0.463	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLYBL	HGNC	protein_coding	OTTHUMT00000045611.1	-	0	95	0	C			100511232	1	tier1	-	no_errors	ENST00000339105	ensembl	human	known	74_37	missense	70.69	17	41	SNP	0.964	G	G	100511232	C	G	100511232	3	3	9	1	0	0	0	0	1	0	0	0	3580	681	24	5	377	5	CLYBL	13	100511232	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	51703704	100511232	14658646	144	2548											
CLMN	79789	genome.wustl.edu	37	chr14	95669921	95669921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcctcgtcaggttttgTctcatgaggtgaaggaactt	9	13	11	8	1	2	2	2	2	1	0	5	3	3	3	1	3	2	2	1	3	2	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr14:95669921T>C	ENST00000298912.4	-	9	1878	c.1765A>G	c.(1765-1767)Aca>Gca	p.T589A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	589					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TCAGGTTTTGTCTCATGAGGT	0.408																																																	0													84	83	83					14																	95669921		2203	4300	6503	SO:0001583	missense	0			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.1765A>G	14.37:g.95669921T>C	ENSP00000298912:p.Thr589Ala		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T589A	ENST00000298912.4	37	c.1765	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344318	0.24339	.	.	ENSG00000165959	ENST00000298912	D	0.91996	-2.95	5.48	-6.38	0.01957	.	2.340400	0.01745	N	0.029588	D	0.83718	0.5315	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71137	-0.4680	10	0.66056	D	0.02	.	4.3649	0.11220	0.1163:0.4448:0.1197:0.3192	.	589	Q96JQ2	CLMN_HUMAN	A	589	ENSP00000298912:T589A	ENSP00000298912:T589A	T	-	1	0	CLMN	94739674	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.587000	0.05780	-1.308000	0.02318	-2.190000	0.00312	ACA	CLMN	-	NULL	ENSG00000165959		0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2		0	97	0	T			95669921	-1			no_errors	ENST00000298912	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	C	C	95669921	T	C	95669921	3	2	9	1	0	0	0	0	1	0	0	0	3549	1667	58	4	1263	4	CLMN	14	95669921	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09		95669921	11679619	145	2549											
AHNAK2	113146	genome.wustl.edu	37	chr14	105409712	105409712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacttggccagcctggacctCcaggtcagcggaagggggct	7	6	15	13	1	1	0	1	0	0	0	2	2	2	2	4	6	2	1	4	6	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr14:105409712C>G	ENST00000333244.5	-	7	12195	c.12076G>C	c.(12076-12078)Gag>Cag	p.E4026Q	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4026						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.E4026*(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGACCTCCAGGTCAGCG	0.657																																																	1	Substitution - Nonsense(1)	lung(1)											104	109	108					14																	105409712		1939	4127	6066	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12076G>C	14.37:g.105409712C>G	ENSP00000353114:p.Glu4026Gln		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E4026Q	ENST00000333244.5	37	c.12076	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	10.65	1.408844	0.25378	.	.	ENSG00000185567	ENST00000333244	T	0.00711	5.8	3.57	1.62	0.23740	.	.	.	.	.	T	0.03390	0.0098	M	0.85041	2.73	0.09310	N	1	D	0.58970	0.984	P	0.58454	0.839	T	0.27502	-1.0072	9	0.31617	T	0.26	.	12.1718	0.54163	0.0:0.4964:0.5036:0.0	.	4026	Q8IVF2	AHNK2_HUMAN	Q	4026	ENSP00000353114:E4026Q	ENSP00000353114:E4026Q	E	-	1	0	AHNAK2	104480757	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	-2.156000	0.01283	0.185000	0.20105	0.306000	0.20318	GAG	AHNAK2	-	NULL	ENSG00000185567		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	149	0	C	NM_138420		105409712	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	42.57	58	43	SNP	0.000	G	G	105409712	C	G	105409712	3	3	9	1	0	0	0	0	1	0	0	0	415	864	30	5	5315	5	AHNAK2	14	105409712	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	9739791	105409712	1939828	146	2550											
NUDT14	256281	genome.wustl.edu	37	chr14	105639420	105639420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacaccaaagatgacgcCgagggtcttggggatgtccg	10	7	15	9	3	1	3	0	2	1	2	2	6	2	4	3	3	0	0	3	3	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr14:105639420C>T	ENST00000392568.2	-	5	700	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	203	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AAGATGACGCCGAGGGTCTTG	0.627										HNSCC(42;0.11)																																							0													78	79	79					14																	105639420		2202	4293	6495	SO:0001583	missense	0			AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"Nudix motif containing"	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.607G>A	14.37:g.105639420C>T	ENSP00000376349:p.Gly203Ser		Q86SJ8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	p.G203S	ENST00000392568.2	37	c.607	CCDS10000.1	14	.	.	.	.	.	.	.	.	.	.	C	4.989	0.183758	0.09495	.	.	ENSG00000183828	ENST00000392568	T	0.39787	1.06	3.32	2.42	0.29668	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	L	0.41236	1.265	0.58432	D	0.999999	D	0.55172	0.97	P	0.44447	0.45	T	0.15093	-1.0449	10	0.09084	T	0.74	-14.3747	6.3717	0.21485	0.0:0.8646:0.0:0.1354	.	203	O95848	NUD14_HUMAN	S	203	ENSP00000376349:G203S	ENSP00000376349:G203S	G	-	1	0	NUDT14	104710465	0.226000	0.23696	0.023000	0.16930	0.179000	0.23085	1.183000	0.32041	0.972000	0.38314	0.462000	0.41574	GGC	NUDT14	-	superfamily_NUDIX_hydrolase_dom-like,tigrfam_NDP_pyrophosphatase	ENSG00000183828		0.627	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT14	HGNC	protein_coding	OTTHUMT00000074544.4	-	0	31	0	C	NM_177533		105639420	-1	tier1	-	no_errors	ENST00000392568	ensembl	human	known	74_37	missense	84.21	3	16	SNP	0.975	T	T	105639420	C	T	105639420	3	4	9	1	0	0	0	0	1	0	0	0	10769	652	23	1	65	1	NUDT14	14	105639420	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	229708	105639420	1710120	147	2551											
TRPM1	4308	genome.wustl.edu	37	chr15	31330034	31330034	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttcttgagccagcatcTgcatttgcatcctggaaaac	9	12	7	13	0	2	1	0	1	2	0	3	2	3	2	3	1	5	3	3	1	2	3	rs375858952		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:31330034T>C	ENST00000256552.6	-	20	2598	c.2451A>G	c.(2449-2451)gcA>gcG	p.A817A	TRPM1_ENST00000397795.2_Silent_p.A795A|TRPM1_ENST00000542188.1_Silent_p.A834A|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGCCAGCATCTGCATTTGCAT	0.478																																																	0								T		1,4031		0,1,2015	123	112	116		2385	2.2	1	15		116	0,8398		0,0,4199	no	coding-synonymous	TRPM1	NM_002420.4		0,1,6214	CC,CT,TT		0.0,0.0248,0.0080		795/1604	31330034	1,12429	2016	4199	6215	SO:0001819	synonymous_variant	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2451A>G	15.37:g.31330034T>C				Silent	SNP	pfam_Ion_trans_dom	p.A834	ENST00000256552.6	37	c.2502	CCDS58346.1	15																																																																																			TRPM1	-	NULL	ENSG00000134160		0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	73	0	T	NM_002420		31330034	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.994	C	C	31330034	T	C	31330034	2	2	9	1	0	0	0	0	0	0	0	1	16633	1567	55	4		4	TRPM1	15	31330034	Silent	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09		31330034	71201358	148	2552											
LPCAT4	254531	genome.wustl.edu	37	chr15	34655019	34655019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagggctgagaggctgtGagccagaggactttgagtct	8	9	16	8	0	1	4	0	3	1	2	1	6	1	5	1	3	2	3	1	3	0	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:34655019G>A	ENST00000314891.6	-	8	942	c.765C>T	c.(763-765)ctC>ctT	p.L255L	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	255					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GAGAGGCTGTGAGCCAGAGGA	0.552																																																	0													79	79	79					15																	34655019		2201	4298	6499	SO:0001819	synonymous_variant	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.765C>T	15.37:g.34655019G>A			A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.L255	ENST00000314891.6	37	c.765	CCDS32191.1	15																																																																																			LPCAT4	-	NULL	ENSG00000176454		0.552	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	-	0	41	0	G	NM_153613		34655019	-1	tier1	-	no_errors	ENST00000314891	ensembl	human	known	74_37	silent	30.14	51	22	SNP	1.000	A	A	34655019	G	A	34655019	2	1	9	1	0	0	0	0	0	0	0	1	8948	1277	45	3		3	LPCAT4	15	34655019	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	3324985	34655019	67876373	149	2553											
LPCAT4	254531	genome.wustl.edu	37	chr15	34656266	34656266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacaggtgccctcaggaaaGaatagcacctggggtaaaaa	16	5	12	8	0	1	1	1	0	0	1	1	3	1	2	2	4	3	2	2	4	7	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:34656266G>C	ENST00000314891.6	-	5	777	c.600C>G	c.(598-600)ttC>ttG	p.F200L	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	200					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCTCAGGAAAGAATAGCACCT	0.463																																																	0													100	107	105					15																	34656266		2201	4298	6499	SO:0001583	missense	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.600C>G	15.37:g.34656266G>C	ENSP00000317300:p.Phe200Leu		A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.F200L	ENST00000314891.6	37	c.600	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937857	0.52972	.	.	ENSG00000176454	ENST00000314891	D	0.92299	-3.01	5.54	1.72	0.24424	Phospholipid/glycerol acyltransferase (2);	0.098803	0.64402	D	0.000001	D	0.83004	0.5160	N	0.13299	0.325	0.40259	D	0.978155	B	0.30326	0.276	B	0.36378	0.223	T	0.73496	-0.3964	10	0.26408	T	0.33	-19.5567	7.4739	0.27365	0.5257:0.0:0.4743:0.0	.	200	Q643R3	LPCT4_HUMAN	L	200	ENSP00000317300:F200L	ENSP00000317300:F200L	F	-	3	2	LPCAT4	32443558	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	0.540000	0.23191	0.500000	0.27991	0.561000	0.74099	TTC	LPCAT4	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	ENSG00000176454		0.463	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	-	0	60	0	G	NM_153613		34656266	-1	tier1	-	no_errors	ENST00000314891	ensembl	human	known	74_37	missense	37.37	62	37	SNP	0.999	C	C	34656266	G	C	34656266	3	2	9	1	0	0	0	0	1	0	0	0	8948	933	33	5	1014	5	LPCAT4	15	34656266	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1247	34656266	67875126	150	2554											
GJD2	57369	genome.wustl.edu	37	chr15	35045307	35045307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctgtccagggctaggAagactgtagagtagcggcgt	8	9	16	8	2	1	2	0	0	1	2	3	3	2	3	1	4	1	3	1	4	4	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:35045307A>G	ENST00000290374.4	-	2	814	c.338T>C	c.(337-339)tTc>tCc	p.F113S	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	113					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CAGGGCTAGGAAGACTGTAGA	0.562																																																	0													76	81	79					15																	35045307		2201	4298	6499	SO:0001583	missense	0			AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"Ion channels / Gap junction proteins (connexins)"	19154	protein-coding gene	gene with protein product	"connexin 36"	607058	"gap junction protein, alpha 9, 36kDa"	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.338T>C	15.37:g.35045307A>G	ENSP00000290374:p.Phe113Ser		Q2M241|Q9P2R0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36	p.F113S	ENST00000290374.4	37	c.338	CCDS10040.1	15	.	.	.	.	.	.	.	.	.	.	A	8.737	0.917960	0.17982	.	.	ENSG00000159248	ENST00000290374	D	0.97850	-4.57	4.9	4.9	0.64082	.	0.000000	0.33610	N	0.004739	D	0.92770	0.7701	N	0.14661	0.345	0.58432	D	0.99999	B	0.21520	0.057	B	0.20767	0.031	D	0.90106	0.4188	10	0.07644	T	0.81	.	14.987	0.71356	1.0:0.0:0.0:0.0	.	113	Q9UKL4	CXD2_HUMAN	S	113	ENSP00000290374:F113S	ENSP00000290374:F113S	F	-	2	0	GJD2	32832599	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.498000	0.66931	2.193000	0.70182	0.528000	0.53228	TTC	GJD2	-	NULL	ENSG00000159248		0.562	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJD2	HGNC	protein_coding	OTTHUMT00000251875.2	-	0	61	0	A			35045307	-1	tier1	-	no_errors	ENST00000290374	ensembl	human	known	74_37	missense	43.06	41	31	SNP	1.000	G	G	35045307	A	G	35045307	3	3	9	1	0	0	0	0	1	0	0	0	6443	246	9	4	631	4	GJD2	15	35045307	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	389041	35045307	67486085	151	2555											
TP53BP1	7158	genome.wustl.edu	37	chr15	43699688	43699688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgacaccacaggcagctGcaatgcttcagcacacttca	11	9	8	13	0	2	1	2	1	0	0	2	1	2	1	1	1	4	5	1	1	1	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:43699688G>A	ENST00000263801.3	-	28	6064	c.5812C>T	c.(5812-5814)Cag>Tag	p.Q1938*	TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q1893*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q1941*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q1943*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1938	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACAGGCAGCTGCAATGCTTCA	0.493								Other conserved DNA damage response genes																																									0													124	111	115					15																	43699688		2201	4298	6499	SO:0001587	stop_gained	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5812C>T	15.37:g.43699688G>A	ENSP00000263801:p.Gln1938*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q1943*	ENST00000263801.3	37	c.5827	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	46	12.434386	0.99667	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	.	.	.	5.34	5.34	0.76211	.	0.358888	0.30800	N	0.008846	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.9506	10.7513	0.46211	0.0:0.1404:0.7145:0.1452	.	.	.	.	X	1938;1943;1893;1941	.	ENSP00000263801:Q1938X	Q	-	1	0	TP53BP1	41486980	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.901000	0.48695	2.656000	0.90262	0.460000	0.39030	CAG	TP53BP1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000067369		0.493	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3		0	26	0	G			43699688	-1			no_errors	ENST00000382044	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	A	A	43699688	G	A	43699688	4	1	9	1	0	0	0	0	0	1	0	0	16431	1328	46	3	110	3	TP53BP1	15	43699688	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	8654381	43699688	58831704	152	2556											
CTDSPL2	51496	genome.wustl.edu	37	chr15	44751267	44751267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatcaaatccaaacacaaCgcactgccagagcaaagagg	19	3	7	12	1	1	2	1	0	0	2	2	2	2	2	2	1	4	2	2	1	5	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:44751267C>T	ENST00000260327.4	+	2	618	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	CTDSPL2_ENST00000396780.1_Missense_Mutation_p.R19C|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.R19C|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.R19C	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	19							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		CCAAACACAACGCACTGCCAG	0.403																																																	0													89	90	90					15																	44751267		2198	4298	6496	SO:0001583	missense	0			AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.55C>T	15.37:g.44751267C>T	ENSP00000260327:p.Arg19Cys		Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.R19C	ENST00000260327.4	37	c.55	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970035	0.53614	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	T;T	0.79940	-1.32;-1.32	5.28	5.28	0.74379	.	0.261763	0.45867	D	0.000324	T	0.72550	0.3474	N	0.24115	0.695	0.58432	D	0.999998	B;B	0.19073	0.022;0.033	B;B	0.10450	0.003;0.005	T	0.68454	-0.5404	10	0.56958	D	0.05	-0.1222	18.9057	0.92460	0.0:1.0:0.0:0.0	.	19;19	Q05D32-2;Q05D32	.;CTSL2_HUMAN	C	19	ENSP00000260327:R19C;ENSP00000380000:R19C	ENSP00000260327:R19C	R	+	1	0	CTDSPL2	42538559	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.697000	0.68295	2.464000	0.83262	0.650000	0.86243	CGC	CTDSPL2	-	NULL	ENSG00000137770		0.403	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	-	0	60	0	C	NM_016396		44751267	1	tier1	-	no_errors	ENST00000260327	ensembl	human	known	74_37	missense	18.75	65	15	SNP	1.000	T	T	44751267	C	T	44751267	3	4	9	1	0	0	0	0	1	0	0	0	4015	536	19	1	57	1	CTDSPL2	15	44751267	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	1051579	44751267	57780125	153	2557											
PRTG	283659	genome.wustl.edu	37	chr15	55971641	55971641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccattcaacaaatgaaggagGagctatttttaaagaaaaaa	20	9	7	5	0	1	2	1	1	0	1	1	4	1	4	1	2	2	1	1	2	9	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:55971641G>C	ENST00000389286.4	-	7	1023	c.976C>G	c.(976-978)Cct>Gct	p.P326A	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATGAAGGAGGAGCTATTTTT	0.413																																																	0													54	47	49					15																	55971641		1817	4075	5892	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.976C>G	15.37:g.55971641G>C	ENSP00000373937:p.Pro326Ala			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P326A	ENST00000389286.4	37	c.976	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118056	0.77323	.	.	ENSG00000166450	ENST00000389286	T	0.31769	1.48	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.37697	1.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11690	-1.0577	10	0.23891	T	0.37	-18.0534	18.8612	0.92273	0.0:0.0:1.0:0.0	.	326	Q2VWP7	PRTG_HUMAN	A	326	ENSP00000373937:P326A	ENSP00000373937:P326A	P	-	1	0	PRTG	53758933	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.457000	0.80775	2.690000	0.91761	0.591000	0.81541	CCT	PRTG	-	NULL	ENSG00000166450		0.413	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	-	0	31	0	G	NM_173814		55971641	-1	tier1	-	no_errors	ENST00000389286	ensembl	human	known	74_37	missense	54.84	14	17	SNP	1.000	C	C	55971641	G	C	55971641	3	2	9	1	0	0	0	0	1	0	0	0	12680	1174	41	5	2532	5	PRTG	15	55971641	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	11220374	55971641	46559751	154	2558											
PTPLAD1	51495	genome.wustl.edu	37	chr15	65864687	65864687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttttcttcagatttatcTtataatgatatttttaggta	10	23	4	4	0	3	2	1	1	2	1	3	2	3	2	0	1	0	1	0	1	6	13			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr15:65864687T>C	ENST00000261875.5	+	10	1161	c.995T>C	c.(994-996)cTt>cCt	p.L332P	PTPLAD1_ENST00000566511.1_Missense_Mutation_p.L215P|snoU13_ENST00000459019.1_RNA|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.L370P|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.L215P|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.L307P|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.L277P|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.L215P|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.L215P	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	332					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CAGATTTATCTTATAATGATA	0.299																																																	0													51	47	48					15																	65864687		1790	4059	5849	SO:0001583	missense	0				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.995T>C	15.37:g.65864687T>C	ENSP00000261875:p.Leu332Pro		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation	SNP	pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.L332P	ENST00000261875.5	37	c.995	CCDS45282.1	15	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465721	0.84425	.	.	ENSG00000074696	ENST00000442729;ENST00000261875	T;T	0.45668	0.89;0.89	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77035	-0.2737	10	0.87932	D	0	-15.0624	16.8222	0.85835	0.0:0.0:0.0:1.0	.	277;332	B4DRF4;Q9P035	.;HACD3_HUMAN	P	277;332	ENSP00000392491:L277P;ENSP00000261875:L332P	ENSP00000261875:L332P	L	+	2	0	PTPLAD1	63651740	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	7.657000	0.83745	2.371000	0.80710	0.533000	0.62120	CTT	PTPLAD1	-	pfam_Tyr_Pase-like_PTPLA	ENSG00000074696		0.299	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1	-	0	62	0	T	NM_016395		65864687	1	tier1	-	no_errors	ENST00000261875	ensembl	human	known	74_37	missense	34.25	48	25	SNP	1.000	C	C	65864687	T	C	65864687	3	2	9	1	0	0	0	0	1	0	0	0	12818	1609	56	4	1033	4	PTPLAD1	15	65864687	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	9893046	65864687	36666705	155	2559											
TIGD7	91151	genome.wustl.edu	37	chr16	3350367	3350367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggtaccacatgtagaccGcatcatctacatcaccatat	12	11	6	12	1	3	1	2	0	1	1	3	1	3	1	3	1	2	4	3	1	4	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr16:3350367G>A	ENST00000396862.1	-	2	2076	c.248C>T	c.(247-249)gCg>gTg	p.A83V	TIGD7_ENST00000268674.2_Missense_Mutation_p.A83V|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	83	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A83V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CATGTAGACCGCATCATCTAC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											159	152	154					16																	3350367		2197	4300	6497	SO:0001583	missense	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.248C>T	16.37:g.3350367G>A	ENSP00000380071:p.Ala83Val		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.A83V	ENST00000396862.1	37	c.248	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365975	0.41902	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.36157	1.27;1.27	4.38	4.38	0.52667	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.35646	U	0.003075	T	0.46386	0.1390	L	0.43646	1.37	0.32140	N	0.585616	D	0.89917	1.0	D	0.85130	0.997	T	0.40478	-0.9561	10	0.10902	T	0.67	.	12.3228	0.54993	0.0:0.0:1.0:0.0	.	83	Q6NT04	TIGD7_HUMAN	V	83	ENSP00000380071:A83V;ENSP00000268674:A83V	ENSP00000268674:A83V	A	-	2	0	TIGD7	3290368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.166000	0.58203	2.283000	0.76528	0.655000	0.94253	GCG	TIGD7	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000140993		0.502	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1		0	51	0	G	NM_033208		3350367	-1			no_errors	ENST00000268674	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	3350367	G	A	3350367	3	1	9	1	0	0	0	0	1	0	0	0	15948	1087	38	1	1405	1	TIGD7	16	3350367	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		3350367	87004386	156	2560											
C16orf89	146556	genome.wustl.edu	37	chr16	5105319	5105319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccaccggagcttgtagaAgtcggagaagccgcccattc	10	6	12	13	3	0	2	0	0	0	2	2	4	0	3	4	2	3	2	4	2	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr16:5105319A>C	ENST00000315997.5	-	6	997	c.796T>G	c.(796-798)Ttc>Gtc	p.F266V	C16orf89_ENST00000474471.3_Missense_Mutation_p.F298V|C16orf89_ENST00000422873.1_Missense_Mutation_p.F304V|C16orf89_ENST00000350219.4_Missense_Mutation_p.F304V|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.F266V	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	266						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						AGCTTGTAGAAGTCGGAGAAG	0.637																																																	0													24	26	26					16																	5105319		1929	4143	6072	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.796T>G	16.37:g.5105319A>C	ENSP00000324672:p.Phe266Val		B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.F304V	ENST00000315997.5	37	c.910	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220557	0.79464	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.49	5.49	0.81192	.	0.129809	0.52532	D	0.000065	T	0.65186	0.2667	M	0.81341	2.54	0.42331	D	0.992292	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.70659	-0.4811	10	0.87932	D	0	-16.5523	11.9807	0.53119	1.0:0.0:0.0:0.0	.	266;304	Q6UX73;G3V0F0	CP089_HUMAN;.	V	298;266;266;304;304;298	ENSP00000417158:F298V;ENSP00000420566:F266V;ENSP00000390402:F304V;ENSP00000283478:F304V	ENSP00000324672:F298V	F	-	1	0	C16orf89	5045320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.452000	0.66638	2.071000	0.62044	0.455000	0.32223	TTC	C16orf89	-	NULL	ENSG00000153446		0.637	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1	-	0	63	0	A	NM_152459		5105319	-1	tier1	-	no_errors	ENST00000350219	ensembl	human	known	74_37	missense	27.59	42	16	SNP	1.000	C	C	5105319	A	C	5105319	3	2	9	1	0	0	0	0	1	0	0	0	1847	72	3	4	559	4	C16orf89	16	5105319	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	1754952	5105319	85249434	157	2561											
XPO6	23214	genome.wustl.edu	37	chr16	28133018	28133018	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcaggtttcaatactGatggcacagcagtttcaatg	11	12	11	7	0	3	2	3	2	0	0	3	2	3	2	0	3	2	4	0	3	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr16:28133018G>T	ENST00000304658.5	-	14	2332	c.1832C>A	c.(1831-1833)tCa>tAa	p.S611*	XPO6_ENST00000565698.1_Nonsense_Mutation_p.S597*	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	611					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTTCAATACTGATGGCACAGC	0.393																																																	0													184	176	178					16																	28133018		1894	4122	6016	SO:0001587	stop_gained	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1832C>A	16.37:g.28133018G>T	ENSP00000302790:p.Ser611*		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Nonsense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S611*	ENST00000304658.5	37	c.1832	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	44	11.018439	0.99503	.	.	ENSG00000169180	ENST00000304658	.	.	.	5.76	5.76	0.90799	.	0.061993	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-7.6274	17.4796	0.87669	0.0:0.0:1.0:0.0	.	.	.	.	X	611	.	ENSP00000302790:S611X	S	-	2	0	XPO6	28040519	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.745000	0.85046	2.706000	0.92434	0.655000	0.94253	TCA	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.393	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1		0	60	0	G	XM_055195		28133018	-1			no_errors	ENST00000304658	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	T	T	28133018	G	T	28133018	4	4	9	1	0	0	0	0	0	1	0	0	17497	1294	45	3	1589	3	XPO6	16	28133018	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	23027699	28133018	62221735	158	2562											
C16orf78	123970	genome.wustl.edu	37	chr16	49407973	49407973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggagtggctggagcggagGcaggggaagaagaaacaagc	13	3	19	6	1	0	2	0	0	0	2	0	6	0	6	0	7	3	2	0	7	4	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr16:49407973G>T	ENST00000299191.3	+	1	240	c.123G>T	c.(121-123)agG>agT	p.R41S		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	41						nucleus (GO:0005634)		p.R41S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGAGCGGAGGCAGGGGAAGA	0.502																																																	1	Substitution - Missense(1)	lung(1)											83	79	80					16																	49407973		2199	4300	6499	SO:0001583	missense	0			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.123G>T	16.37:g.49407973G>T	ENSP00000299191:p.Arg41Ser			Missense_Mutation	SNP	NULL	p.R41S	ENST00000299191.3	37	c.123	CCDS10738.1	16	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996165	0.54147	.	.	ENSG00000166152	ENST00000299191	T	0.60299	0.2	3.66	0.551	0.17225	.	0.120943	0.37906	N	0.001890	T	0.43122	0.1233	L	0.34521	1.04	0.30611	N	0.759529	D	0.54964	0.969	P	0.47134	0.539	T	0.44877	-0.9299	9	.	.	.	-69.353	4.0124	0.09629	0.2245:0.1964:0.5791:0.0	.	41	Q8WTQ4	CP078_HUMAN	S	41	ENSP00000299191:R41S	.	R	+	3	2	C16orf78	47965474	0.998000	0.40836	0.984000	0.44739	0.781000	0.44180	1.062000	0.30555	0.161000	0.19458	0.561000	0.74099	AGG	C16orf78	-	NULL	ENSG00000166152		0.502	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1		0	63	0	G	NM_144602		49407973	1			no_errors	ENST00000299191	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.985	T	T	49407973	G	T	49407973	3	4	9	1	0	0	0	0	1	0	0	0	1840	1194	42	3	125	3	C16orf78	16	49407973	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	21274955	49407973	40946780	159	2563											
SALL1	6299	genome.wustl.edu	37	chr16	51174681	51174681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccccttggtggagaacctGttcccgcagatgttgcactt	6	13	10	12	1	0	2	0	0	0	2	2	3	2	2	4	2	2	4	4	2	1	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr16:51174681G>T	ENST00000251020.4	-	2	1485	c.1452C>A	c.(1450-1452)aaC>aaA	p.N484K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.N387K|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	484					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGAGAACCTGTTCCCGCAGA	0.527																																					GBM(103;1352 1446 1855 4775 8890)												0													99	97	98					16																	51174681		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1452C>A	16.37:g.51174681G>T	ENSP00000251020:p.Asn484Lys		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N484K	ENST00000251020.4	37	c.1452	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195191	0.58017	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.10382	2.88;2.88	5.29	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	N	0.00023	-2.715	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56372	-0.7990	10	0.02654	T	1	.	14.1704	0.65506	0.0733:0.0:0.9267:0.0	.	484	Q9NSC2	SALL1_HUMAN	K	484;387;448	ENSP00000251020:N484K;ENSP00000407914:N387K	ENSP00000251020:N484K	N	-	3	2	SALL1	49732182	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.968000	0.63728	2.458000	0.83093	0.563000	0.77884	AAC	SALL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103449		0.527	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	30	0	G	NM_002968		51174681	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	81.48	5	22	SNP	1.000	T	T	51174681	G	T	51174681	3	4	9	1	0	0	0	0	1	0	0	0	13855	1368	48	3	2530	3	SALL1	16	51174681	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1766708	51174681	39180072	160	2564											
HERPUD1	9709	genome.wustl.edu	37	chr16	56973168	56973168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcctgaagctgcccagcagGcattccaaggcctgggtcct	7	7	13	14	0	0	1	0	1	0	0	2	1	2	1	5	4	3	3	5	4	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr16:56973168G>A	ENST00000439977.2	+	5	648	c.451G>A	c.(451-453)Gca>Aca	p.A151T	HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.A126T|RP11-325K4.3_ENST00000565861.1_RNA|RP11-325K4.2_ENST00000570210.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.A150T|HERPUD1_ENST00000344114.4_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	151					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGCCCAGCAGGCATTCCAAGG	0.433			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"		E	0													130	140	136					16																	56973168		2198	4300	6498	SO:0001583	missense	0			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.451G>A	16.37:g.56973168G>A	ENSP00000409555:p.Ala151Thr		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.A151T	ENST00000439977.2	37	c.451	CCDS10771.1	16	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777960	0.31502	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T	0.30448	1.53	5.98	2.8	0.32819	.	0.445998	0.24949	N	0.034309	T	0.12178	0.0296	N	0.05383	-0.06	0.24198	N	0.995524	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.12156	0.007;0.003;0.005;0.001	T	0.31024	-0.9958	10	0.10111	T	0.7	-19.8585	6.1749	0.20439	0.2512:0.174:0.5748:0.0	.	151;126;150;151	A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	T	150;126;151	ENSP00000369118:A126T	ENSP00000300302:A151T	A	+	1	0	HERPUD1	55530669	0.333000	0.24731	0.970000	0.41538	0.997000	0.91878	0.814000	0.27239	0.764000	0.33197	0.591000	0.81541	GCA	HERPUD1	-	NULL	ENSG00000051108		0.433	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	-	0	93	0	G			56973168	1	tier1	-	no_errors	ENST00000439977	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.959	A	A	56973168	G	A	56973168	3	1	9	1	0	0	0	0	1	0	0	0	7090	1203	42	3	469	3	HERPUD1	16	56973168	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5798487	56973168	33381585	161	2565											
FUK	197258	genome.wustl.edu	37	chr16	70501800	70501800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatagggccttgttttGgacatttactaccagggcac	9	12	10	10	0	0	0	0	0	0	0	0	1	0	1	2	3	3	3	2	3	3	7			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr16:70501800G>T	ENST00000288078.6	+	8	826	c.594G>T	c.(592-594)ttG>ttT	p.L198F	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.L230F	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	198						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCCTTGTTTTGGACATTTACT	0.597																																																	0													82	84	84					16																	70501800		2055	4213	6268	SO:0001583	missense	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.594G>T	16.37:g.70501800G>T	ENSP00000288078:p.Leu198Phe		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.L230F	ENST00000288078.6	37	c.690	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658749	0.47467	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.31769	1.48;1.48	5.17	1.98	0.26296	L-fucokinase (1);	0.611647	0.15548	N	0.256570	T	0.31231	0.0790	L	0.38531	1.155	0.80722	D	1	B;D	0.67145	0.138;0.996	B;P	0.59115	0.09;0.852	T	0.33317	-0.9873	10	0.51188	T	0.08	-8.3564	0.9389	0.01351	0.2579:0.1615:0.4139:0.1668	.	230;198	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	F	198;230	ENSP00000288078:L198F;ENSP00000368192:L230F	ENSP00000288078:L198F	L	+	3	2	FUK	69059301	0.996000	0.38824	1.000000	0.80357	0.417000	0.31264	0.432000	0.21461	1.337000	0.45525	0.561000	0.74099	TTG	FUK	-	pfam_Fucokinase	ENSG00000157353		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	-	0	100	0	G	NM_145059		70501800	1	tier1	-	no_errors	ENST00000378912	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.975	T	T	70501800	G	T	70501800	3	4	9	1	0	0	0	0	1	0	0	0	6120	1339	47	3	620	3	FUK	16	70501800	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	13528632	70501800	19852953	162	2566											
GEMIN4	50628	genome.wustl.edu	37	chr17	650493	650493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtttgtccagatacaCggttgcagacacctcctggg	8	9	12	12	1	0	2	0	0	0	2	2	2	2	2	4	3	2	3	4	3	1	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:650493C>T	ENST00000319004.5	-	2	908	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	GEMIN4_ENST00000576778.1_Missense_Mutation_p.V253M|GEMIN4_ENST00000437269.1_Silent_p.P176P	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	264					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TCCAGATACACGGTTGCAGAC	0.612																																																	0													111	122	118					17																	650493		2171	4260	6431	SO:0001583	missense	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.790G>A	17.37:g.650493C>T	ENSP00000321706:p.Val264Met		Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.V264M	ENST00000319004.5	37	c.790	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	C	1.846	-0.466137	0.04476	.	.	ENSG00000179409	ENST00000319004	T	0.15487	2.42	5.37	-5.6	0.02497	.	0.824381	0.11210	N	0.587780	T	0.11196	0.0273	L	0.46157	1.445	0.09310	N	0.999999	B	0.22480	0.07	B	0.21546	0.035	T	0.25082	-1.0142	10	0.33141	T	0.24	-7.2753	4.7135	0.12884	0.084:0.5928:0.1672:0.156	.	264	P57678	GEMI4_HUMAN	M	264	ENSP00000321706:V264M	ENSP00000321706:V264M	V	-	1	0	GEMIN4	597243	0.001000	0.12720	0.001000	0.08648	0.237000	0.25408	0.185000	0.16958	-1.393000	0.02079	-2.049000	0.00408	GTG	GEMIN4	-	NULL	ENSG00000179409		0.612	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	HGNC	protein_coding	OTTHUMT00000437181.1		0	34	0	C	NM_015721		650493	-1			no_errors	ENST00000319004	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.000	T	T	650493	C	T	650493	3	4	9	1	0	0	0	0	1	0	0	0	6356	536	19	1	2390	1	GEMIN4	17	650493	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		650493	80544717	163	2567											
TP53	7157	genome.wustl.edu	37	chr17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-																															acactatgtcgaaaagtgttTctgtcatccaaatactccac																										TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:7578222_7578223delTC	ENST00000269305.4	-	6	815_816	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAAAGTGTTTCTGTCATCCAA	0.535		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	84	Deletion - Frameshift(51)|Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(8)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|urinary_tract(1)|liver(1)|thyroid(1)	GRCh37	CD962734	TP53	D																																				SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.626_627delGA	17.37:g.7578222_7578223delTC	ENSP00000269305:p.Arg209fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R209fs	ENST00000269305.4	37	c.627_626	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	55	0	TC	NM_000546		7578223	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	66.67	15	30	DEL	0.000:0.000	-	-	7578223	TC	-	7578222	7	5	9	1	0	1	0	1	0	0	0	0	16429	1780	62	0	667	0	TP53	17	7578222	Frame_Shift_Del	DEL	TC	TCGA-2H-A9GN-01A-11D-A37C-09	6927729	7578222	73616988	164	2568											
DNAH2	146754	genome.wustl.edu	37	chr17	7643207	7643207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgctgcgagccgttcgcGggggtatcctggatgtcaag	7	8	15	11	5	1	0	1	0	0	0	3	2	2	1	2	3	2	3	2	3	2	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:7643207G>T	ENST00000572933.1	+	9	2787	c.1327G>T	c.(1327-1329)Ggg>Tgg	p.G443W	DNAH2_ENST00000082259.3_Missense_Mutation_p.G525W|DNAH2_ENST00000570791.1_Missense_Mutation_p.G525W|DNAH2_ENST00000389173.2_Missense_Mutation_p.G443W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	443	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCCGTTCGCGGGGGTATCCT	0.537																																																	0													66	61	63					17																	7643207		2203	4300	6503	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1327G>T	17.37:g.7643207G>T	ENSP00000458355:p.Gly443Trp		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G443W	ENST00000572933.1	37	c.1327	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	6.454	0.451969	0.12283	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.55234	0.53;0.53	4.85	4.85	0.62838	Dynein heavy chain, domain-1 (1);	0.283081	0.35495	N	0.003170	T	0.39384	0.1076	L	0.29908	0.895	0.23056	N	0.998362	B;B	0.29508	0.016;0.246	B;B	0.30251	0.055;0.113	T	0.29731	-1.0002	10	0.38643	T	0.18	.	10.4806	0.44691	0.0901:0.0:0.9099:0.0	.	443;525	Q9P225;Q9P225-3	DYH2_HUMAN;.	W	443;443;525	ENSP00000373825:G443W;ENSP00000082259:G525W	ENSP00000082259:G525W	G	+	1	0	DNAH2	7583932	1.000000	0.71417	0.948000	0.38648	0.258000	0.26162	3.646000	0.54396	2.520000	0.84964	0.650000	0.86243	GGG	DNAH2	-	pfam_Dynein_heavy_dom-1	ENSG00000183914		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1		0	42	0	G	NM_020877		7643207	1			no_errors	ENST00000389173	ensembl	human	known	74_37	missense	8.82	30	3	SNP	0.823	T	T	7643207	G	T	7643207	3	4	9	1	0	0	0	0	1	0	0	0	4616	1116	39	2	1357	2	DNAH2	17	7643207	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	64985	7643207	73552003	165	2569											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8221919	8221919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagcgctgaggtggggcGcatgaagcagactgaagagc	10	6	17	8	2	0	5	0	3	0	2	0	5	0	5	0	3	4	4	0	3	2	1	rs143720339		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:8221919G>A	ENST00000361926.3	+	11	1921	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R604H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	604					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GAGGTGGGGCGCATGAAGCAG	0.612																																																	0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	62	63	62		1811,1811	5.3	1	17	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	ARHGEF15	NM_025014.1,NM_173728.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	604/842,604/842	8221919	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1811G>A	17.37:g.8221919G>A	ENSP00000355026:p.Arg604His		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.R604H	ENST00000361926.3	37	c.1811	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	g	23.0	4.358370	0.82243	2.27E-4	0.0	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.32515	1.45;1.45	5.29	5.29	0.74685	Dbl homology (DH) domain (1);	0.059270	0.64402	D	0.000004	T	0.51160	0.1658	L	0.59436	1.845	0.46113	D	0.998873	D;D	0.89917	1.0;1.0	D;D	0.66979	0.948;0.948	T	0.49679	-0.8914	10	0.54805	T	0.06	-18.0429	16.4339	0.83864	0.0:0.0:1.0:0.0	.	604;604	D3DTR7;O94989	.;ARHGF_HUMAN	H	604;394;604	ENSP00000355026:R604H;ENSP00000412505:R604H	ENSP00000355026:R604H	R	+	2	0	ARHGEF15	8162644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.368000	0.59505	2.470000	0.83445	0.555000	0.69702	CGC	ARHGEF15	-	superfamily_DH-domain	ENSG00000198844		0.612	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2		0	51	0	G	NM_173728		8221919	1			no_errors	ENST00000361926	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	8221919	G	A	8221919	3	1	9	1	0	0	0	0	1	0	0	0	898	1087	38	1	1849	1	ARHGEF15	17	8221919	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	578712	8221919	72973291	166	2570											
PIRT	644139	genome.wustl.edu	37	chr17	10728672	10728672	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcatgagtcccagggaCaggaagccaggccctaccat	12	5	11	13	0	1	1	1	1	0	0	2	3	2	3	4	3	3	1	4	3	2	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:10728672C>A	ENST00000580256.2	-	2	929	c.291G>T	c.(289-291)ctG>ctT	p.L97L		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	97						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						GTCCCAGGGACAGGAAGCCAG	0.532																																																	0													97	99	99					17																	10728672		2100	4221	6321	SO:0001819	synonymous_variant	0			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"phosphoinositide-interacting regulator of TRPV1"	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.291G>T	17.37:g.10728672C>A			B7Z648	Silent	SNP	NULL	p.L97	ENST00000580256.2	37	c.291	CCDS45614.1	17																																																																																			PIRT	-	NULL	ENSG00000233670		0.532	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	-	0	82	0	C	NM_001101387		10728672	-1	tier1	-	no_errors	ENST00000580256	ensembl	human	known	74_37	silent	45.65	25	21	SNP	1.000	A	A	10728672	C	A	10728672	2	1	9	1	0	0	0	0	0	0	0	1	11984	465	17	3		3	PIRT	17	10728672	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	2506753	10728672	70466538	167	2571											
SRCIN1	80725	genome.wustl.edu	37	chr17	36708244	36708244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagctcatgcaggttcaGcggggggctggggggtggca	5	7	20	9	1	3	0	3	0	0	0	3	0	3	0	0	8	3	6	0	8	0	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:36708244G>T	ENST00000264659.7	-	14	2829	c.2605C>A	c.(2605-2607)Ctg>Atg	p.L869M	SRCIN1_ENST00000578925.1_Missense_Mutation_p.L903M|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	741	Pro-rich.				exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGCAGGTTCAGCGGGGGGCTG	0.612																																																	0													36	42	40					17																	36708244		1917	4105	6022	SO:0001583	missense	0				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2605C>A	17.37:g.36708244G>T	ENSP00000264659:p.Leu869Met		Q75T46|Q8N4W8	Missense_Mutation	SNP	pfam_AIP3_C	p.L869M	ENST00000264659.7	37	c.2605	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285406	0.23478	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.50001	0.76	4.69	1.51	0.23008	.	0.544123	0.18935	N	0.127094	T	0.34454	0.0898	L	0.35341	1.055	0.22961	N	0.9985	P;P;P;P	0.44578	0.838;0.587;0.587;0.587	P;B;B;B	0.45099	0.469;0.177;0.177;0.177	T	0.10847	-1.0612	10	0.33141	T	0.24	-11.1366	4.361	0.11203	0.1743:0.0:0.4053:0.4204	.	175;741;741;869	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	M	869;650;723	ENSP00000264659:L869M	ENSP00000264659:L869M	L	-	1	2	SRCIN1	33961770	0.704000	0.27836	0.002000	0.10522	0.659000	0.38960	0.785000	0.26830	0.274000	0.22072	0.561000	0.74099	CTG	SRCIN1	-	NULL	ENSG00000017373		0.612	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4		0	70	0	G	NM_025248		36708244	-1			no_errors	ENST00000264659	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.181	T	T	36708244	G	T	36708244	3	4	9	1	0	0	0	0	1	0	0	0	15183	962	34	3	970	3	SRCIN1	17	36708244	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	25979572	36708244	44486966	168	2572											
ABCA10	10349	genome.wustl.edu	37	chr17	67178855	67178855	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatggctccattgtaggaGggatcatctgagccatttct	9	13	11	8	0	3	2	1	2	2	0	4	4	4	4	2	3	1	2	2	3	1	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:67178855G>T	ENST00000269081.4	-	22	3501	c.2592C>A	c.(2590-2592)ccC>ccA	p.P864P	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	864					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATTGTAGGAGGGATCATCTG	0.378																																																	0													153	157	155					17																	67178855		2203	4300	6503	SO:0001819	synonymous_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2592C>A	17.37:g.67178855G>T			C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P864	ENST00000269081.4	37	c.2592	CCDS11684.1	17																																																																																			ABCA10	-	NULL	ENSG00000154263		0.378	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	44	0	G	NM_080282		67178855	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.000	T	T	67178855	G	T	67178855	2	4	9	1	0	0	0	0	0	0	0	1	29	987	35	3		3	ABCA10	17	67178855	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	30470611	67178855	14016355	169	2573											
RNF213	57674	genome.wustl.edu	37	chr17	78363879	78363879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatgctaagctcctcaGcacattcctaaatcagactg	14	9	7	11	0	2	1	2	0	0	1	4	2	4	2	2	1	3	3	2	1	5	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:78363879G>T	ENST00000582970.1	+	67	15496	c.15353G>T	c.(15352-15354)aGc>aTc	p.S5118I	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S3191I|RNF213_ENST00000508628.2_Missense_Mutation_p.S5167I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5118					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGCTCCTCAGCACATTCCTA	0.473																																																	0													101	107	105					17																	78363879		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15353G>T	17.37:g.78363879G>T	ENSP00000464087:p.Ser5118Ile		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S5118I	ENST00000582970.1	37	c.15353	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636517	0.29068	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.23348	1.91	5.67	2.1	0.27182	.	0.463570	0.24305	N	0.039690	T	0.18800	0.0451	L	0.60455	1.87	0.09310	N	1	P;B	0.35656	0.514;0.067	B;B	0.32090	0.14;0.02	T	0.11842	-1.0571	10	0.35671	T	0.21	.	3.4515	0.07499	0.4524:0.204:0.3436:0.0	.	5118;3191	D6RI12;Q63HN8	.;RN213_HUMAN	I	5118;5167;3191;468	ENSP00000338218:S3191I	ENSP00000338218:S3191I	S	+	2	0	RNF213	75978474	0.000000	0.05858	0.001000	0.08648	0.786000	0.44442	0.169000	0.16641	0.663000	0.31027	0.655000	0.94253	AGC	RNF213	-	NULL	ENSG00000173821		0.473	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	45	0	G	NM_020914		78363879	1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.008	T	T	78363879	G	T	78363879	3	4	9	1	0	0	0	0	1	0	0	0	13522	971	34	3	15934	3	RNF213	17	78363879	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	11185024	78363879	2831331	170	2574											
NARF	26502	genome.wustl.edu	37	chr17	80417920	80417920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaatgtgtcagccgatgCaccgagtccagcccaggaaa	13	5	12	11	2	1	1	1	0	0	1	2	5	2	2	4	1	3	1	4	1	2	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr17:80417920C>T	ENST00000309794.11	+	2	278	c.80C>T	c.(79-81)gCa>gTa	p.A27V	NARF_ENST00000457415.3_Missense_Mutation_p.A27V|NARF_ENST00000412079.2_5'UTR|NARF_ENST00000345415.7_Missense_Mutation_p.A27V|RP13-20L14.6_ENST00000579095.1_RNA|NARF_ENST00000581743.1_3'UTR|RP13-20L14.6_ENST00000578344.1_RNA|NARF_ENST00000390006.4_5'UTR	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	27						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCAGCCGATGCACCGAGTCCA	0.418																																																	0													108	109	108					17																	80417920		2203	4300	6503	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.80C>T	17.37:g.80417920C>T	ENSP00000309899:p.Ala27Val		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.A27V	ENST00000309794.11	37	c.80	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699274	0.30142	.	.	ENSG00000141562	ENST00000374611;ENST00000309794;ENST00000345415;ENST00000457415	T;T;T	0.42900	0.96;1.06;0.96	4.22	0.876	0.19138	.	1.235800	0.05683	N	0.590733	T	0.19127	0.0459	N	0.03608	-0.345	0.09310	N	0.999999	B;B;B;B;B	0.09022	0.002;0.002;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.004;0.003;0.002;0.001;0.001	T	0.17776	-1.0358	10	0.33940	T	0.23	-17.6979	3.392	0.07293	0.0:0.2857:0.2198:0.4945	.	27;27;27;27;27	B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;.;NARF_HUMAN	V	27	ENSP00000309899:A27V;ENSP00000283996:A27V;ENSP00000414678:A27V	ENSP00000309899:A27V	A	+	2	0	NARF	78011209	0.000000	0.05858	0.000000	0.03702	0.389000	0.30415	-0.539000	0.06113	0.070000	0.16634	0.563000	0.77884	GCA	NARF	-	NULL	ENSG00000141562		0.418	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	-	0	75	0	C	NM_031968		80417920	1	tier1	-	no_errors	ENST00000309794	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.000	T	T	80417920	C	T	80417920	3	4	9	1	0	0	0	0	1	0	0	0	10205	710	25	3	86	3	NARF	17	80417920	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	2054041	80417920	777290	171	2575											
USP14	9097	genome.wustl.edu	37	chr18	203144	203144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaccattcagatggttcGatttttttataaagagaagg	12	15	9	5	1	1	3	1	1	0	2	2	5	1	3	1	2	0	1	1	2	4	8			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr18:203144G>T	ENST00000261601.7	+	12	1080	c.989G>T	c.(988-990)cGa>cTa	p.R330L	USP14_ENST00000400266.3_Missense_Mutation_p.R319L|USP14_ENST00000383589.2_Missense_Mutation_p.R284L|USP14_ENST00000582707.1_Missense_Mutation_p.R295L	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	330	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CAGATGGTTCGATTTTTTTAT	0.343																																																	0													71	75	73					18																	203144		2203	4300	6503	SO:0001583	missense	0			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.989G>T	18.37:g.203144G>T	ENSP00000261601:p.Arg330Leu		J3QRZ5|Q53XY5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.R330L	ENST00000261601.7	37	c.989	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	g	35	5.467976	0.96257	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.61040	0.14;0.14	5.8	5.8	0.92144	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.061993	0.64402	D	0.000002	D	0.85057	0.5610	H	0.96943	3.91	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.994	D;D;D	0.74348	0.983;0.959;0.944	D	0.89457	0.3734	10	0.87932	D	0	-11.9134	20.062	0.97678	0.0:0.0:1.0:0.0	.	319;295;330	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	L	330;295;319	ENSP00000261601:R330L;ENSP00000383125:R319L	ENSP00000261601:R330L	R	+	2	0	USP14	193144	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.389000	0.79806	2.730000	0.93505	0.563000	0.77884	CGA	USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.343	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3		0	66	0	G	NM_005151		203144	1			no_errors	ENST00000261601	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	203144	G	T	203144	3	4	9	1	0	0	0	0	1	0	0	0	17094	1058	37	2	1035	2	USP14	18	203144	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		203144	77874104	172	2576											
RALBP1	10928	genome.wustl.edu	37	chr18	9517255	9517255	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgtgaatgtatagattaCgtagagaagtatggcatgaa	14	12	11	4	2	0	4	0	2	0	2	1	5	1	4	1	1	1	4	1	1	8	6	rs568114638		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr18:9517255C>A	ENST00000019317.4	+	3	880	c.657C>A	c.(655-657)taC>taA	p.Y219*	RP11-61L19.3_ENST00000609094.1_RNA|RNU2-27P_ENST00000516185.1_RNA|RALBP1_ENST00000383432.3_Nonsense_Mutation_p.Y219*			Q15311	RBP1_HUMAN	ralA binding protein 1	219	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GTATAGATTACGTAGAGAAGT	0.413																																																	0													76	73	74					18																	9517255		2203	4300	6503	SO:0001587	stop_gained	0			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.657C>A	18.37:g.9517255C>A	ENSP00000019317:p.Tyr219*		D3DUI0	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Y219*	ENST00000019317.4	37	c.657	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211523	0.79240	.	.	ENSG00000017797	ENST00000019317;ENST00000383432;ENST00000458039	.	.	.	5.1	-3.48	0.04739	.	0.058024	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1972	13.0477	0.58937	0.0:0.6122:0.0:0.3878	.	.	.	.	X	219	.	ENSP00000019317:Y219X	Y	+	3	2	RALBP1	9507255	0.851000	0.29673	0.603000	0.28903	0.999000	0.98932	0.025000	0.13577	-0.741000	0.04797	0.655000	0.94253	TAC	RALBP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000017797		0.413	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1		0	68	0	C	NM_006788		9517255	1			no_errors	ENST00000019317	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.997	A	A	9517255	C	A	9517255	4	1	9	1	0	0	0	0	0	1	0	0	13057	547	19	2	663	2	RALBP1	18	9517255	Nonsense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	9314111	9517255	68559993	173	2577											
SLC14A2	8170	genome.wustl.edu	37	chr18	43248375	43248375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggctgctgatggccGtgttctcagacaaaggtgac	7	10	16	8	1	1	3	1	2	1	1	2	3	1	3	1	5	1	3	1	5	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr18:43248375G>A	ENST00000255226.6	+	15	2785	c.1969G>A	c.(1969-1971)Gtg>Atg	p.V657M	SLC14A2_ENST00000586448.1_Missense_Mutation_p.V657M|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.V134M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	657					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCTGATGGCCGTGTTCTCAGA	0.557																																																	0													199	165	176					18																	43248375		2203	4300	6503	SO:0001583	missense	0			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1969G>A	18.37:g.43248375G>A	ENSP00000255226:p.Val657Met		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.V657M	ENST00000255226.6	37	c.1969	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803356	0.90623	.	.	ENSG00000132874	ENST00000255226	T	0.53206	0.63	4.83	4.83	0.62350	.	0.000000	0.48286	D	0.000189	T	0.77896	0.4199	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84991	0.0894	10	0.87932	D	0	-24.2659	18.1372	0.89623	0.0:0.0:1.0:0.0	.	657	Q15849	UT2_HUMAN	M	657	ENSP00000255226:V657M	ENSP00000255226:V657M	V	+	1	0	SLC14A2	41502373	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	7.101000	0.76997	2.503000	0.84419	0.563000	0.77884	GTG	SLC14A2	-	pfam_Urea_transporter	ENSG00000132874		0.557	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	-	0	82	0	G			43248375	1	tier1	-	no_errors	ENST00000255226	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	A	A	43248375	G	A	43248375	3	1	9	1	0	0	0	0	1	0	0	0	14442	1145	40	1	2023	1	SLC14A2	18	43248375	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	33731120	43248375	34828873	174	2578											
SMAD4	4089	genome.wustl.edu	37	chr18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacccttctggaggagatcGcttttgtttgggtcaactct	6	14	12	9	1	3	1	1	0	2	1	4	4	3	3	1	4	1	2	1	4	1	4	rs377767347		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																																	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	GRCh37	CM004254	SMAD4	M							167	138	148					18																	48591919		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R361H	ENST00000342988.3	37	c.1082	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	87	0	G	NM_005359		48591919	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	76.60	11	36	SNP	1.000	A	A	48591919	G	A	48591919	3	1	9	1	0	0	0	0	1	0	0	0	14805	1087	38	1	1112	1	SMAD4	18	48591919	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5343544	48591919	29485329	175	2579											
HCN2	610	genome.wustl.edu	37	chr19	603569	603569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggacttcaccatgctgCtgttcatggtgggaaacctc	8	11	11	11	0	2	0	2	0	0	0	3	2	2	2	2	3	3	3	2	3	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:603569C>A	ENST00000251287.2	+	2	711	c.658C>A	c.(658-660)Ctg>Atg	p.L220M		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	220					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L220L(1)		endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCATGCTGCTGTTCATGGT	0.627																																					Melanoma(145;1175 2427 8056 36306)												1	Substitution - coding silent(1)	endometrium(1)											52	50	51					19																	603569		2196	4293	6489	SO:0001583	missense	0			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.658C>A	19.37:g.603569C>A	ENSP00000251287:p.Leu220Met		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.L220M	ENST00000251287.2	37	c.658	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	14.28	2.487570	0.44249	.	.	ENSG00000099822	ENST00000251287	D	0.97976	-4.64	3.22	2.16	0.27623	Ion transport N-terminal (1);	.	.	.	.	D	0.94387	0.8195	L	0.28608	0.87	0.48901	D	0.999721	P	0.43701	0.815	B	0.43194	0.411	D	0.91472	0.5197	9	0.45353	T	0.12	.	8.8578	0.35238	0.0:0.8836:0.0:0.1164	.	220	Q9UL51	HCN2_HUMAN	M	220	ENSP00000251287:L220M	ENSP00000251287:L220M	L	+	1	2	HCN2	554569	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.948000	0.40303	0.685000	0.31468	0.479000	0.44913	CTG	HCN2	-	pfam_Ion_trans_N	ENSG00000099822		0.627	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1		0	47	0	C	NM_001194		603569	1			no_errors	ENST00000251287	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	603569	C	A	603569	3	1	9	1	0	0	0	0	1	0	0	0	7024	796	28	3	664	3	HCN2	19	603569	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		603569	58525414	176	2580											
GRIN3B	116444	genome.wustl.edu	37	chr19	1005120	1005120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaactccgcccgctcacaGgtggtggacttcaccagccc	8	7	9	17	2	3	0	3	0	0	0	4	1	4	1	4	3	2	1	4	3	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:1005120G>T	ENST00000234389.3	+	3	1639	c.1620G>T	c.(1618-1620)caG>caT	p.Q540H	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	540					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGCTCACAGGTGGTGGACT	0.692																																																	0													44	40	41					19																	1005120		2203	4299	6502	SO:0001583	missense	0				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1620G>T	19.37:g.1005120G>T	ENSP00000234389:p.Gln540His		Q5EAK7|Q7RTW9	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q540H	ENST00000234389.3	37	c.1620	CCDS32861.1	19	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795003	0.50208	.	.	ENSG00000116032	ENST00000234389	T	0.29917	1.55	4.53	3.46	0.39613	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.392198	0.27544	N	0.018884	T	0.33469	0.0864	M	0.65498	2.005	0.30378	N	0.782246	P	0.48350	0.909	P	0.46659	0.523	T	0.42582	-0.9443	10	0.87932	D	0	.	4.8952	0.13746	0.1826:0.1881:0.6293:0.0	.	540	O60391	NMD3B_HUMAN	H	540	ENSP00000234389:Q540H	ENSP00000234389:Q540H	Q	+	3	2	GRIN3B	956120	0.318000	0.24598	0.949000	0.38748	0.967000	0.64934	0.447000	0.21710	0.889000	0.36185	0.485000	0.47835	CAG	GRIN3B	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000116032		0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2		0	49	0	G			1005120	1			no_errors	ENST00000234389	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.660	T	T	1005120	G	T	1005120	3	4	9	1	0	0	0	0	1	0	0	0	6811	991	35	3	1630	3	GRIN3B	19	1005120	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	401551	1005120	58123863	177	2581											
EFNA2	1943	genome.wustl.edu	37	chr19	1295853	1295853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggccacgagtattactaCatctgtgagtggggtcgggc	7	9	14	11	3	1	1	0	1	1	0	2	2	1	1	2	4	2	1	2	4	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:1295853C>T	ENST00000215368.2	+	2	465	c.450C>T	c.(448-450)taC>taT	p.Y150Y	MUM1_ENST00000344663.3_Intron	NM_001405.3	NP_001396.2	O43921	EFNA2_HUMAN	ephrin-A2	150	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|olfactory bulb development (GO:0021772)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			lung(2)	2		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTATTACTACATCTGTGAGT	0.736																																																	0													7	9	8					19																	1295853		2163	4225	6388	SO:0001819	synonymous_variant	0				CCDS12061.1	19p13	2011-03-09			ENSG00000099617	ENSG00000099617		"Ephrins"	3222	protein-coding gene	gene with protein product		602756		EPLG6			Standard	NM_001405		Approved	ELF-1, LERK6	uc002lry.2	O43921		ENST00000215368.2:c.450C>T	19.37:g.1295853C>T			O76020	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.Y150	ENST00000215368.2	37	c.450	CCDS12061.1	19																																																																																			EFNA2	-	pfam_Ephrin,superfamily_Cupredoxin	ENSG00000099617		0.736	EFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA2	HGNC	protein_coding	OTTHUMT00000450016.1	-	0	51	0	C	NM_001405		1295853	1	tier1	-	no_errors	ENST00000215368	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	1295853	C	T	1295853	2	4	9	1	0	0	0	0	0	0	0	1	4965	489	17	3		3	EFNA2	19	1295853	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	290733	1295853	57833130	178	2582											
FAM108A1	81926	genome.wustl.edu	37	chr19	1880936	1880936	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggccagggcagccccTgtgccccagctcttgcccag	5	5	12	19	1	1	0	0	0	1	0	1	0	1	0	7	2	4	3	7	2	0	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:1880936T>C	ENST00000292577.7	-	2	766				ABHD17A_ENST00000250974.9_Silent_p.T148T|ABHD17A_ENST00000590661.1_Intron	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A							extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCAGCCCCTGTGCCCCAGC	0.662																																																	0													32	38	36					19																	1880936		2201	4299	6500	SO:0001627	intron_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.332+297A>G	19.37:g.1880936T>C			A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	pfam_Dienelactn_hydro	p.T148	ENST00000292577.7	37	c.444	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	115	0	T	NM_031213		1880936	-1			no_errors	ENST00000250974	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.000	C	C	1880936	T	C	1880936	1	2	9	0	1	0	0	0	0	0	0	0	5410	1567	55	4		4	FAM108A1	19	1880936	Intron	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	585083	1880936	57248047	179	2583											
ZNF844	284391	genome.wustl.edu	37	chr19	12187160	12187160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgttccagttcctttcactAtcatgaaaggactcacactg	10	13	6	12	1	3	1	3	1	0	0	6	2	5	2	2	1	0	2	2	1	2	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:12187160A>G	ENST00000439326.3	+	4	1400	c.1225A>G	c.(1225-1227)Atc>Gtc	p.I409V	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TCCTTTCACTATCATGAAAGG	0.418																																																	0													41	39	40					19																	12187160		692	1591	2283	SO:0001583	missense	0			AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"Zinc fingers, C2H2-type", "-"	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1225A>G	19.37:g.12187160A>G	ENSP00000392024:p.Ile409Val		Q5JPI8	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I409V	ENST00000439326.3	37	c.1225	CCDS45985.1	19	.	.	.	.	.	.	.	.	.	.	-	3.121	-0.180506	0.06380	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.05025	3.51	2.73	-5.47	0.02600	.	.	.	.	.	T	0.02119	0.0066	N	0.11756	0.17	0.09310	N	1	B	0.18741	0.03	B	0.10450	0.005	T	0.44832	-0.9302	9	0.07644	T	0.81	.	0.2101	0.00155	0.338:0.2378:0.1965:0.2277	.	409	Q08AG5	ZN844_HUMAN	V	409	ENSP00000392024:I409V	ENSP00000392024:I409V	I	+	1	0	ZNF844	12048160	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-7.088000	0.00044	-2.420000	0.00564	0.329000	0.21502	ATC	ZNF844	-	NULL	ENSG00000223547		0.418	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF844	HGNC	protein_coding	OTTHUMT00000344086.2	-	0	81	0	A			12187160	1	tier1	-	no_errors	ENST00000439326	ensembl	human	known	74_37	missense	33.33	34	17	SNP	0.000	G	G	12187160	A	G	12187160	3	3	9	1	0	0	0	0	1	0	0	0	18238	449	16	4	1239	4	ZNF844	19	12187160	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	10306224	12187160	46941823	180	2584											
CACNA1A	773	genome.wustl.edu	37	chr19	13616887	13616887	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgctctctgcgccattGactgcttgtacatcctttgc	4	14	8	15	3	1	1	0	1	1	0	4	1	3	1	3	0	4	3	3	0	1	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:13616887G>T	ENST00000360228.5	-	1	151	c.152C>A	c.(151-153)tCa>tAa	p.S51*	CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.S51*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	51					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.S51*(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGCGCCATTGACTGCTTGTA	0.687																																																	3	Substitution - Nonsense(3)	lung(3)											85	90	88					19																	13616887		2077	4212	6289	SO:0001587	stop_gained	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.152C>A	19.37:g.13616887G>T	ENSP00000353362:p.Ser51*		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.S51*	ENST00000360228.5	37	c.152	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.442518	0.98813	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	3.04	1.98	0.26296	.	0.000000	0.49916	U	0.000124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1312	0.36846	0.1155:0.0:0.8845:0.0	.	.	.	.	X	51	.	ENSP00000317661:S51X	S	-	2	0	CACNA1A	13477887	1.000000	0.71417	0.976000	0.42696	0.948000	0.59901	9.247000	0.95444	0.478000	0.27488	0.508000	0.49915	TCA	CACNA1A	-	NULL	ENSG00000141837		0.687	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	44	0	G	NM_000068		13616887	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.996	T	T	13616887	G	T	13616887	4	4	9	1	0	0	0	0	0	1	0	0	2545	1294	45	3	7670	3	CACNA1A	19	13616887	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1429727	13616887	45512096	181	2585											
IL27RA	9466	genome.wustl.edu	37	chr19	14160008	14160008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttggcgactccaagatgcCcctccagggacccccgccat	7	7	9	18	2	0	1	0	0	0	1	2	3	2	2	7	2	1	0	7	2	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:14160008C>T	ENST00000263379.2	+	10	1409	c.1284C>T	c.(1282-1284)gcC>gcT	p.A428A		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	428	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCCAAGATGCCCCTCCAGGGA	0.642											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(164;1849 1896 4443 37792 47834)												0													44	47	46					19																	14160008		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1284C>T	19.37:g.14160008C>T		693	A0N0L1|O60624	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A428	ENST00000263379.2	37	c.1284	CCDS12303.1	19																																																																																			IL27RA	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000104998		0.642	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	-	0	62	0	C	NM_004843		14160008	1	tier1	-	no_errors	ENST00000263379	ensembl	human	known	74_37	silent	26.32	28	10	SNP	0.000	T	T	14160008	C	T	14160008	2	4	9	1	0	0	0	0	0	0	0	1	7708	610	22	3		3	IL27RA	19	14160008	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	543121	14160008	44968975	182	2586											
BRD4	23476	genome.wustl.edu	37	chr19	15375435	15375435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcgggcacgtccttctttGgaggtttcacaggccggctg	5	11	14	11	3	2	0	1	0	1	0	4	1	3	1	2	5	0	3	2	5	0	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:15375435G>T	ENST00000263377.2	-	6	1213	c.992C>A	c.(991-993)cCa>cAa	p.P331Q	BRD4_ENST00000371835.4_Missense_Mutation_p.P331Q|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.P331Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	331					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTCCTTCTTTGGAGGTTTCAC	0.637			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													65	55	59					19																	15375435		2203	4300	6503	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.992C>A	19.37:g.15375435G>T	ENSP00000263377:p.Pro331Gln	702	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P331Q	ENST00000263377.2	37	c.992	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480291	0.84747	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.20069	2.1;2.1;2.1	5.45	5.45	0.79879	Bromodomain (1);	0.000000	0.64402	D	0.000008	T	0.51924	0.1703	M	0.84846	2.72	0.44643	D	0.997628	D;D;P	0.71674	0.974;0.998;0.937	P;D;B	0.69307	0.497;0.963;0.4	T	0.58312	-0.7658	10	0.72032	D	0.01	-10.3449	18.0458	0.89331	0.0:0.0:1.0:0.0	.	331;331;331	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	Q	331	ENSP00000263377:P331Q;ENSP00000360901:P331Q;ENSP00000353112:P331Q	ENSP00000263377:P331Q	P	-	2	0	BRD4	15236435	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.383000	0.66219	2.556000	0.86216	0.563000	0.77884	CCA	BRD4	-	superfamily_Bromodomain	ENSG00000141867		0.637	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3		0	80	0	G	NM_058243		15375435	-1			no_errors	ENST00000263377	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	15375435	G	T	15375435	3	4	9	1	0	0	0	0	1	0	0	0	1508	1348	47	3	3171	3	BRD4	19	15375435	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1215427	15375435	43753548	183	2587											
ZNF568	374900	genome.wustl.edu	37	chr19	37440440	37440440	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagttgatgaacagatcAagaagcaacaggaaacactt	18	6	11	6	0	1	4	1	2	0	2	1	6	1	6	0	2	4	2	0	2	6	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:37440440A>T	ENST00000333987.7	+	7	891	c.385A>T	c.(385-387)Aag>Tag	p.K129*	ZNF568_ENST00000415168.1_Nonsense_Mutation_p.K65*|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAACAGATCAAGAAGCAACA	0.318																																																	0													56	50	52					19																	37440440		1823	4086	5909	SO:0001587	stop_gained	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.385A>T	19.37:g.37440440A>T	ENSP00000334685:p.Lys129*		B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K129*	ENST00000333987.7	37	c.385	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	A	36	5.839672	0.97009	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	4.31	2.22	0.28083	.	0.405249	0.18206	N	0.148333	.	.	.	.	.	.	0.38089	D	0.93691	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	6.8169	0.23835	0.7998:0.0:0.2002:0.0	.	.	.	.	X	129;65	.	ENSP00000334685:K129X	K	+	1	0	ZNF568	42132280	0.000000	0.05858	0.978000	0.43139	0.998000	0.95712	0.080000	0.14802	0.306000	0.22856	0.533000	0.62120	AAG	ZNF568	-	NULL	ENSG00000198453		0.318	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	-	0	42	0	A	NM_198539		37440440	1	tier1	-	no_errors	ENST00000333987	ensembl	human	known	74_37	nonsense	8.77	52	5	SNP	0.706	T	T	37440440	A	T	37440440	4	4	9	1	0	0	0	0	0	1	0	0	18047	131	5	5	403	5	ZNF568	19	37440440	Nonsense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	22065005	37440440	21688543	184	2588											
GGN	199720	genome.wustl.edu	37	chr19	38877720	38877720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggctcccggggtaccAtgagtcccgggggtgtggcg	3	7	19	12	3	0	1	0	1	0	0	2	1	2	1	4	7	1	2	4	7	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:38877720A>G	ENST00000334928.6	-	3	314	c.182T>C	c.(181-183)aTg>aCg	p.M61T	SPRED3_ENST00000586301.1_5'Flank|GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	61	Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGGGTACCATGAGTCCCGG	0.697																																																	0													14	16	15					19																	38877720		2145	4182	6327	SO:0001583	missense	0			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.182T>C	19.37:g.38877720A>G	ENSP00000334940:p.Met61Thr		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.M61T	ENST00000334928.6	37	c.182	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	A	8.518	0.868143	0.17250	.	.	ENSG00000179168	ENST00000334928;ENST00000392116	.	.	.	3.47	2.39	0.29439	.	0.588088	0.12941	N	0.426613	T	0.17577	0.0422	N	0.08118	0	0.18873	N	0.999986	B	0.09022	0.002	B	0.12156	0.007	T	0.18650	-1.0330	9	0.40728	T	0.16	-8.3644	5.7484	0.18132	0.7611:0.0:0.0:0.2389	.	61	Q86UU5	GGN_HUMAN	T	61	.	ENSP00000334940:M61T	M	-	2	0	GGN	43569560	1.000000	0.71417	0.987000	0.45799	0.290000	0.27261	2.718000	0.47236	0.477000	0.27464	0.459000	0.35465	ATG	GGN	-	NULL	ENSG00000179168		0.697	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	-	0	77	0	A	NM_152657		38877720	-1	tier1	-	no_errors	ENST00000334928	ensembl	human	known	74_37	missense	31.58	64	30	SNP	0.935	G	G	38877720	A	G	38877720	3	3	9	1	0	0	0	0	1	0	0	0	6384	217	8	4	1784	4	GGN	19	38877720	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09	1437280	38877720	20251263	185	2589											
RYR1	6261	genome.wustl.edu	37	chr19	38946168	38946168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctggtcagcaagctggatCggctggaggcctcgtctggt	5	9	17	10	2	2	0	1	0	1	0	4	2	2	2	1	7	2	4	1	7	1	0	rs193922770		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:38946168C>T	ENST00000359596.3	+	15	1654	c.1654C>T	c.(1654-1656)Cgg>Tgg	p.R552W	RYR1_ENST00000355481.4_Missense_Mutation_p.R552W|RYR1_ENST00000360985.3_Missense_Mutation_p.R552W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	552			R -> W (in MHS1). {ECO:0000269|PubMed:16163667, ECO:0000269|PubMed:9138151}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAAGCTGGATCGGCTGGAGGC	0.602																																																	0			GRCh37	CM971325	RYR1	M							75	69	71					19																	38946168		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1654C>T	19.37:g.38946168C>T	ENSP00000352608:p.Arg552Trp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.R552W	ENST00000359596.3	37	c.1654	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448136	0.43429	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95656	-3.77;-3.77;-3.77	4.01	2.94	0.34122	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000004	D	0.96917	0.8993	M	0.76002	2.32	0.44843	D	0.997851	D;D	0.89917	1.0;0.995	D;D	0.91635	0.999;0.957	D	0.96215	0.9156	10	0.56958	D	0.05	.	10.9388	0.47262	0.4619:0.5381:0.0:0.0	.	552;552	P21817-2;P21817	.;RYR1_HUMAN	W	552	ENSP00000352608:R552W;ENSP00000347667:R552W;ENSP00000354254:R552W	ENSP00000347667:R552W	R	+	1	2	RYR1	43638008	0.184000	0.23200	1.000000	0.80357	0.984000	0.73092	0.799000	0.27028	0.845000	0.35118	0.407000	0.27541	CGG	RYR1	-	pfam_Ca-rel_channel	ENSG00000196218		0.602	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	70	0	C			38946168	1	tier1	rs193922770	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	T	T	38946168	C	T	38946168	3	4	9	1	0	0	0	0	1	0	0	0	13813	875	31	1	1712	1	RYR1	19	38946168	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	68448	38946168	20182815	186	2590											
NANOS2	339345	genome.wustl.edu	37	chr19	46417601	46417601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagggactgctggccaccGttaagcgggcagtacttgag	9	8	15	9	2	0	2	0	1	0	1	0	3	0	3	2	3	3	4	2	3	3	4	rs575299215		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:46417601G>A	ENST00000341294.2	-	1	435	c.351C>T	c.(349-351)aaC>aaT	p.N117N		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	117					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GCTGGCCACCGTTAAGCGGGC	0.672													G|||	1	0.000199681	8e-04	0	5008	,	,		14519	0		0	False		,,,				2504	0																0													47	44	45					19																	46417601		2203	4300	6503	SO:0001819	synonymous_variant	0			BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.351C>T	19.37:g.46417601G>A			Q17R30|Q4G0P8	Silent	SNP	pfam_Znf_nanos-typ	p.N117	ENST00000341294.2	37	c.351	CCDS33056.1	19																																																																																			NANOS2	-	NULL	ENSG00000188425		0.672	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOS2	HGNC	protein_coding	OTTHUMT00000461685.1	-	0	113	0	G			46417601	-1	tier1	-	no_errors	ENST00000341294	ensembl	human	known	74_37	silent	64.18	100	181	SNP	0.268	A	A	46417601	G	A	46417601	2	1	9	1	0	0	0	0	0	0	0	1	10190	1136	40	1		1	NANOS2	19	46417601	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	7471433	46417601	12711382	187	2591											
DACT3	147906	genome.wustl.edu	37	chr19	47152183	47152183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgcccatcggcagcgtcGatctccgcagtggagcgcca	6	5	14	16	7	1	0	0	0	1	0	4	2	1	1	3	3	2	2	3	3	0	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:47152183G>A	ENST00000391916.2	-	4	1519	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	DACT3_ENST00000300875.4_Silent_p.I257I	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	482	Arg-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CGGCAGCGTCGATCTCCGCAG	0.781																																																	0													1	1	1					19																	47152183		497	1221	1718	SO:0001819	synonymous_variant	0				CCDS12688.2, CCDS74402.1	19q13.32	2013-05-15	2013-05-15	2006-09-25	ENSG00000197380	ENSG00000197380			30745	protein-coding gene	gene with protein product		611112	"arginine rich region 1", "dapper, antagonist of beta-catenin, homolog 3 (Xenopus laevis)"	RRR1		16881060	Standard	NM_145056		Approved	MGC15476, DAPPER3	uc010ekq.3	Q96B18	OTTHUMG00000153070	ENST00000391916.2:c.1446C>T	19.37:g.47152183G>A				Silent	SNP	NULL	p.I482	ENST00000391916.2	37	c.1446	CCDS12688.2	19																																																																																			DACT3	-	NULL	ENSG00000197380		0.781	DACT3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	DACT3	HGNC	protein_coding	OTTHUMT00000334090.1	-	0	9	0	G	NM_145056		47152183	-1	tier1	-	no_errors	ENST00000391916	ensembl	human	known	74_37	silent	100.00	0	5	SNP	1.000	A	A	47152183	G	A	47152183	2	1	9	1	0	0	0	0	0	0	0	1	4232	1048	37	1		1	DACT3	19	47152183	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	734582	47152183	11976800	188	2592											
HRC	3270	genome.wustl.edu	37	chr19	49657890	49657892	+	In_Frame_Del	DEL	TCC	TCC	-																															actcagtggaggcctcctctTcctcctcctcctcctcctcc																								rs369248456|rs571697189	byFrequency	TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:49657890_49657892delTCC	ENST00000252825.4	-	1	789_791	c.603_605delGGA	c.(601-606)gaggaa>gaa	p.201_202EE>E	HRC_ENST00000595625.1_In_Frame_Del_p.201_202EE>E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	201	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGcctcctcttcctcctcctcct	0.562																																					Melanoma(37;75 1097 24567 25669 30645)												0																																										SO:0001651	inframe_deletion	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.603_605delGGA	19.37:g.49657899_49657901delTCC	ENSP00000252825:p.Glu204del		Q504Y6	In_Frame_Del	DEL	pfam_Hist_rich_Ca-bd	p.E204in_frame_del	ENST00000252825.4	37	c.605_603	CCDS12759.1	19																																																																																			HRC	-	NULL	ENSG00000130528		0.562	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1		0	36	0	TCC	NM_002152		49657892	-1	tier1		no_errors	ENST00000252825	ensembl	human	known	74_37	in_frame_del	8.57	32	3	DEL	0.004:0.016:0.003	-	-	49657892	TCC	-	49657890	7	5	9	1	0	1	0	1	0	0	0	0	7379	1783	62	0	1518	0	HRC	19	49657890	In_Frame_Del	DEL	TCC	TCGA-2H-A9GN-01A-11D-A37C-09	2505707	49657890	9471093	189	2593											
NR1H2	7376	genome.wustl.edu	37	chr19	50885724	50885724	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcaggaccagctgcgCttcccgcgcatgctcatgaa	7	8	9	17	3	2	1	2	1	0	0	4	2	4	2	3	1	3	4	3	1	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:50885724C>G	ENST00000253727.5	+	10	1483	c.1248C>G	c.(1246-1248)cgC>cgG	p.R416R	POLD1_ENST00000599857.1_5'Flank|NR1H2_ENST00000598168.1_Silent_p.R386R|NR1H2_ENST00000411902.2_Silent_p.R319R|POLD1_ENST00000440232.2_5'Flank|NR1H2_ENST00000593926.1_Silent_p.R416R|NR1H2_ENST00000542413.1_Silent_p.R147R|NR1H2_ENST00000599105.1_Silent_p.R372R	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	416	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		ACCAGCTGCGCTTCCCGCGCA	0.682																																																	0													10	13	12					19																	50885724		2071	4217	6288	SO:0001819	synonymous_variant	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"Nuclear hormone receptors"	7965	protein-coding gene	gene with protein product	"liver X receptor-beta"	600380	"ubiquitously-expressed nuclear receptor"	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1248C>G	19.37:g.50885724C>G			A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.R416	ENST00000253727.5	37	c.1248	CCDS42593.1	19																																																																																			NR1H2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000131408		0.682	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	-	0	31	0	C			50885724	1	tier1	-	no_errors	ENST00000253727	ensembl	human	known	74_37	silent	30.95	29	13	SNP	1.000	G	G	50885724	C	G	50885724	2	3	9	1	0	0	0	0	0	0	0	1	10656	784	28	5		5	NR1H2	19	50885724	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	1227834	50885724	8243259	190	2594											
LRRC4B	94030	genome.wustl.edu	37	chr19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaggcggtgcaggggcGtgaagaggtcgtggggcagc	6	5	22	8	4	0	2	0	1	0	1	2	3	0	2	0	7	2	3	0	7	1	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:51022077G>A	ENST00000599957.1	-	3	1090	c.893C>T	c.(892-894)aCg>aTg	p.T298M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T298M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	298					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T298M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637																																																	1	Substitution - Missense(1)	prostate(1)											86	103	97					19																	51022077		2169	4264	6433	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.893C>T	19.37:g.51022077G>A	ENSP00000471502:p.Thr298Met		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T298M	ENST00000599957.1	37	c.893	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004646	0.54254	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.57907	0.37	3.7	3.7	0.42460	.	0.000000	0.85682	U	0.000000	T	0.60932	0.2307	L	0.37507	1.11	0.48632	D	0.999681	D	0.89917	1.0	D	0.74023	0.982	T	0.63431	-0.6639	10	0.54805	T	0.06	.	13.3505	0.60599	0.0:0.0:1.0:0.0	.	298	Q9NT99	LRC4B_HUMAN	M	298	ENSP00000373853:T298M	ENSP00000373853:T298M	T	-	2	0	LRRC4B	55713889	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.666000	0.83877	2.084000	0.62774	0.561000	0.74099	ACG	LRRC4B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000131409		0.637	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0	85	0	G	NM_001080457		51022077	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	41.03	46	32	SNP	1.000	A	A	51022077	G	A	51022077	3	1	9	1	0	0	0	0	1	0	0	0	9042	1145	40	1	1252	1	LRRC4B	19	51022077	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	136353	51022077	8106906	191	2595											
ZNF528	84436	genome.wustl.edu	37	chr19	52919153	52919153	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacggttcatactggtGagaaaccttacaaatgtgaa	16	10	8	7	1	2	2	2	2	0	1	2	3	2	2	1	2	4	1	1	2	6	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:52919153G>T	ENST00000360465.3	+	7	1474	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCATACTGGTGAGAAACCTTA	0.388																																																	0													66	65	66					19																	52919153		2203	4300	6503	SO:0001587	stop_gained	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1048G>T	19.37:g.52919153G>T	ENSP00000353652:p.Glu350*		B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E350*	ENST00000360465.3	37	c.1048	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.870921	0.97049	.	.	ENSG00000167555	ENST00000360465	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	11.173	0.48582	0.0:0.0:1.0:0.0	.	.	.	.	X	350	.	ENSP00000353652:E350X	E	+	1	0	ZNF528	57610965	0.998000	0.40836	0.940000	0.37924	0.140000	0.21249	2.745000	0.47459	1.134000	0.42165	0.655000	0.94253	GAG	ZNF528	-	pfscan_Znf_C2H2	ENSG00000167555		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	-	0	42	0	G	NM_032423		52919153	1	tier1	-	no_errors	ENST00000360465	ensembl	human	known	74_37	nonsense	21.43	33	9	SNP	1.000	T	T	52919153	G	T	52919153	4	4	9	1	0	0	0	0	0	1	0	0	18017	1291	45	3	1062	3	ZNF528	19	52919153	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1897076	52919153	6209830	192	2596											
NLRP12	91662	genome.wustl.edu	37	chr19	54312916	54312916	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcgctgtaggtggcgccaTacaagtgcagcacctgggcg	7	6	15	13	4	0	0	0	0	0	0	0	0	0	0	3	3	3	4	3	3	3	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:54312916T>A	ENST00000324134.6	-	3	2165	c.1997A>T	c.(1996-1998)tAt>tTt	p.Y666F	NLRP12_ENST00000535162.1_Missense_Mutation_p.Y666F|NLRP12_ENST00000345770.5_Missense_Mutation_p.Y666F|NLRP12_ENST00000391772.1_Missense_Mutation_p.Y666F|NLRP12_ENST00000391773.1_Missense_Mutation_p.Y666F|NLRP12_ENST00000354278.3_Missense_Mutation_p.Y666F|NLRP12_ENST00000391775.3_Missense_Mutation_p.Y666F|NLRP12_ENST00000351894.4_Missense_Mutation_p.Y666F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	666					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTGGCGCCATACAAGTGCAG	0.617																																																	0													46	42	44					19																	54312916		2203	4300	6503	SO:0001583	missense	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1997A>T	19.37:g.54312916T>A	ENSP00000319377:p.Tyr666Phe		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.Y666F	ENST00000324134.6	37	c.1997	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	T	3.452	-0.111736	0.06881	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	3.86	-2.95	0.05564	.	2.159180	0.02576	N	0.098305	T	0.74981	0.3788	N	0.15975	0.35	0.09310	N	0.999997	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.64175	-0.6469	10	0.10636	T	0.68	.	3.1266	0.06409	0.5031:0.2209:0.0:0.276	.	666;666;666;666	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	F	666	ENSP00000319377:Y666F;ENSP00000438030:Y666F;ENSP00000340473:Y666F;ENSP00000346231:Y666F;ENSP00000375655:Y666F;ENSP00000375653:Y666F;ENSP00000375652:Y666F	ENSP00000319377:Y666F	Y	-	2	0	NLRP12	59004728	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.021000	0.12504	-0.259000	0.09432	-0.686000	0.03744	TAT	NLRP12	-	NULL	ENSG00000142405		0.617	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0	50	0	T	NM_144687		54312916	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	40.82	29	20	SNP	0.000	A	A	54312916	T	A	54312916	3	1	9	1	0	0	0	0	1	0	0	0	10513	1406	49	5	1316	5	NLRP12	19	54312916	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	1393763	54312916	4816067	193	2597											
ZNF583	147949	genome.wustl.edu	37	chr19	56935610	56935610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtaaagattgcaggaaatCtttcaggcagcgtgcacatc	13	10	10	8	1	2	1	1	0	1	1	3	2	2	2	0	2	3	4	0	2	3	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:56935610C>G	ENST00000333201.9	+	5	1793	c.1583C>G	c.(1582-1584)tCt>tGt	p.S528C	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.S528C	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S528F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGCAGGAAATCTTTCAGGCAG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											107	106	106					19																	56935610		2203	4300	6503	SO:0001583	missense	0			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1583C>G	19.37:g.56935610C>G	ENSP00000388502:p.Ser528Cys		O14850|Q2NKK3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S528C	ENST00000333201.9	37	c.1583	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770739	0.49680	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.08370	3.1;3.1	4.64	3.52	0.40303	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43579	D	0.000552	T	0.20577	0.0495	M	0.65320	2	0.09310	N	1	D	0.76494	0.999	P	0.62885	0.908	T	0.00948	-1.1504	9	.	.	.	.	11.4596	0.50202	0.0:0.6667:0.3333:0.0	.	528	Q96ND8	ZN583_HUMAN	C	528	ENSP00000291598:S528C;ENSP00000388502:S528C	.	S	+	2	0	ZNF583	61627422	0.001000	0.12720	0.005000	0.12908	0.995000	0.86356	1.112000	0.31172	2.574000	0.86865	0.650000	0.86243	TCT	ZNF583	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198440		0.408	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1		0	58	0	C	NM_152478		56935610	1			no_errors	ENST00000291598	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.009	G	G	56935610	C	G	56935610	3	3	9	1	0	0	0	0	1	0	0	0	18063	913	32	5	1597	5	ZNF583	19	56935610	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	2622694	56935610	2193373	194	2598											
ZNF835	90485	genome.wustl.edu	37	chr19	57174972	57174972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaatcttctgctggtccaCgcgggtttctgccagggcac	5	12	11	13	2	3	0	0	0	3	0	4	0	4	0	2	3	2	3	2	3	1	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:57174972C>T	ENST00000537055.2	-	2	1826	c.1595G>A	c.(1594-1596)cGt>cAt	p.R532H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R554H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCTGGTCCACGCGGGTTTCT	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											50	53	52					19																	57174972		2051	4208	6259	SO:0001583	missense	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1595G>A	19.37:g.57174972C>T	ENSP00000444747:p.Arg532His		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R532H	ENST00000537055.2	37	c.1595	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	C	1.834	-0.469165	0.04445	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06933	3.24	1.83	-3.66	0.04489	.	.	.	.	.	T	0.03434	0.0099	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40869	-0.9540	9	0.66056	D	0.02	.	7.2836	0.26324	0.0:0.1772:0.5802:0.2426	.	554	Q9Y2P0	ZN835_HUMAN	H	554;532	ENSP00000444747:R532H	ENSP00000341756:R554H	R	-	2	0	ZNF835	61866784	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.834000	0.04391	-2.824000	0.00342	-1.474000	0.01003	CGT	ZNF835	-	NULL	ENSG00000127903		0.582	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	-	0	30	0	C	NM_001005850		57174972	-1	tier1	-	no_errors	ENST00000537055	ensembl	human	known	74_37	missense	50.00	23	23	SNP	0.000	T	T	57174972	C	T	57174972	3	4	9	1	0	0	0	0	1	0	0	0	18234	536	19	1	20	1	ZNF835	19	57174972	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	239362	57174972	1954011	195	2599											
ZNF544	27300	genome.wustl.edu	37	chr19	58757716	58757716	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcattcacacaggaggagtGggaacagctggacctggccc	10	5	15	11	0	1	0	1	0	0	0	1	4	1	4	2	6	2	2	2	6	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr19:58757716G>A	ENST00000596652.1	+	4	317	c.83G>A	c.(82-84)tGg>tAg	p.W28*	CTD-3138B18.4_ENST00000600029.1_Nonsense_Mutation_p.W28*|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000599227.1_Nonsense_Mutation_p.W28*|ZNF544_ENST00000596825.1_Nonsense_Mutation_p.W28*|ZNF544_ENST00000599953.1_Intron|ZNF544_ENST00000596929.1_Nonsense_Mutation_p.W28*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.W28*|ZNF544_ENST00000594384.1_Nonsense_Mutation_p.W28*|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.W28*|ZNF544_ENST00000595981.1_Nonsense_Mutation_p.W28*|ZNF544_ENST00000333581.5_Nonsense_Mutation_p.W28*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.W28*|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.W28*			Q6NX49	ZN544_HUMAN	zinc finger protein 544	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CAGGAGGAGTGGGAACAGCTG	0.567																																																	0													195	173	180					19																	58757716		2203	4300	6503	SO:0001587	stop_gained	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.83G>A	19.37:g.58757716G>A	ENSP00000469635:p.Trp28*		A8K6J1|Q9UEX4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W28*	ENST00000596652.1	37	c.83	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	37	5.988131	0.97179	.	.	ENSG00000198131	ENST00000269829;ENST00000333581;ENST00000415203	.	.	.	2.36	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3976	0.44209	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000269829:W28X	W	+	2	0	ZNF544	63449528	1.000000	0.71417	0.279000	0.24732	0.425000	0.31504	3.986000	0.56937	1.324000	0.45282	0.407000	0.27541	TGG	ZNF544	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198131		0.567	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	-	0	64	0	G	NM_014480		58757716	1	tier1	-	no_errors	ENST00000269829	ensembl	human	known	74_37	nonsense	32.05	53	25	SNP	0.960	A	A	58757716	G	A	58757716	4	1	9	1	0	0	0	0	0	1	0	0	18025	1357	47	3	89	3	ZNF544	19	58757716	Nonsense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	1582744	58757716	371267	196	2600											
SIRPG	55423	genome.wustl.edu	37	chr20	1615969	1615969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgacctctagggcaaggCgtttgctgaccgccagctgc	6	9	13	13	2	1	2	0	2	1	0	1	2	1	2	3	2	3	4	3	2	2	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:1615969C>T	ENST00000303415.3	-	4	1089	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.R309H|SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	342					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TAGGGCAAGGCGTTTGCTGAC	0.493																																																	0													102	85	91					20																	1615969		2203	4300	6503	SO:0001583	missense	0			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1025G>A	20.37:g.1615969C>T	ENSP00000305529:p.Arg342His		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R342H	ENST00000303415.3	37	c.1025	CCDS13020.2	20	.	.	.	.	.	.	.	.	.	.	.	7.077	0.569474	0.13560	.	.	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.11930	3.14;2.73	1.6	0.301	0.15781	Immunoglobulin-like fold (1);	1.836230	0.02430	N	0.083472	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	10	0.59425	D	0.04	.	3.2624	0.06853	0.0:0.463:0.0:0.537	.	342	Q9P1W8	SIRPG_HUMAN	H	309;342	ENSP00000370992:R309H;ENSP00000305529:R342H	ENSP00000305529:R342H	R	-	2	0	SIRPG	1563969	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.485000	0.02314	0.058000	0.16222	0.195000	0.17529	CGC	SIRPG	-	smart_Ig_sub	ENSG00000089012		0.493	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	-	0	106	0	C	NM_018556		1615969	-1	tier1	-	no_errors	ENST00000303415	ensembl	human	known	74_37	missense	40.00	63	42	SNP	0.000	T	T	1615969	C	T	1615969	3	4	9	1	0	0	0	0	1	0	0	0	14381	768	27	1	146	1	SIRPG	20	1615969	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		1615969	61409551	197	2601											
RASSF2	9770	genome.wustl.edu	37	chr20	4776546	4776546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcatcctgcatctgcaGgcgaatgggccggcgcaggc	6	8	15	12	3	2	0	1	0	1	0	3	1	3	0	2	4	2	4	2	4	1	1			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:4776546G>A	ENST00000379400.3	-	5	397	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Silent_p.L68L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	68					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGCATCTGCAGGCGAATGGGC	0.592																																					Melanoma(158;1891 3343 50738)												0													104	99	101					20																	4776546		2203	4300	6503	SO:0001819	synonymous_variant	0			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.202C>T	20.37:g.4776546G>A			A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom	p.L68	ENST00000379400.3	37	c.202	CCDS13083.1	20																																																																																			RASSF2	-	NULL	ENSG00000101265		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	-	0	41	0	G	NM_014737		4776546	-1	tier1	-	no_errors	ENST00000379376	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.986	A	A	4776546	G	A	4776546	2	1	9	1	0	0	0	0	0	0	0	1	13131	991	35	3		3	RASSF2	20	4776546	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	3160577	4776546	58248974	198	2602											
ID1	3397	genome.wustl.edu	37	chr20	30193543	30193543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaatccgaagttggaacccCcgggggccgagggctgccgg	7	4	18	12	4	0	0	0	0	0	0	1	4	1	2	5	6	2	2	5	6	3	1	rs200577120	byFrequency	TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:30193543C>T	ENST00000376112.3	+	1	458	c.353C>T	c.(352-354)cCc>cTc	p.P118L	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Missense_Mutation_p.P118L	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	118					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTTGGAACCCCCGGGGGCCGA	0.622													C|||	2	0.000399361	0	0	5008	,	,		16222	0		0.002	False		,,,				2504	0				NSCLC(123;1618 1779 21803 28680 33854)												0								C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	16	20	19		353,353	5	0.2	20		19	8,8590		0,8,4291	no	missense,missense	ID1	NM_002165.3,NM_181353.2	98,98	0,8,6494	TT,TC,CC		0.093,0.0,0.0615	benign,benign	118/156,118/150	30193543	8,12996	2203	4299	6502	SO:0001583	missense	0				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"Basic helix-loop-helix proteins"	5360	protein-coding gene	gene with protein product	"DNA-binding protein inhibitor ID-1"	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.353C>T	20.37:g.30193543C>T	ENSP00000365280:p.Pro118Leu		A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P118L	ENST00000376112.3	37	c.353	CCDS13185.1	20	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948446	0.34377	0.0	9.3E-4	ENSG00000125968	ENST00000376112;ENST00000376105	T;T	0.49720	0.77;0.77	4.97	4.97	0.65823	Helix-loop-helix DNA-binding (1);	0.414644	0.24508	N	0.037914	T	0.29458	0.0734	N	0.08118	0	0.44677	D	0.997664	P;B	0.35575	0.51;0.001	B;B	0.35413	0.202;0.001	T	0.11084	-1.0602	10	0.18710	T	0.47	-15.5649	17.3358	0.87280	0.0:1.0:0.0:0.0	.	118;118	P41134-2;P41134	.;ID1_HUMAN	L	118	ENSP00000365280:P118L;ENSP00000365273:P118L	ENSP00000365273:P118L	P	+	2	0	ID1	29657204	0.208000	0.23494	0.184000	0.23157	0.001000	0.01503	3.601000	0.54059	2.735000	0.93741	0.655000	0.94253	CCC	ID1	-	superfamily_bHLH_dom	ENSG00000125968		0.622	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID1	HGNC	protein_coding	OTTHUMT00000078550.1	-	0	47	0	C	NM_002165		30193543	1	tier1	rs200577120	no_errors	ENST00000376112	ensembl	human	known	74_37	missense	49.15	30	29	SNP	1.000	T	T	30193543	C	T	30193543	3	4	9	1	0	0	0	0	1	0	0	0	7516	623	22	3	355	3	ID1	20	30193543	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	25416997	30193543	32831977	199	2603											
SUN5	140732	genome.wustl.edu	37	chr20	31575539	31575539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggagtgggccttctcaTggttataggtgactgacgtg	8	12	15	6	1	1	2	1	2	1	0	2	3	1	3	1	4	0	2	1	4	3	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:31575539T>C	ENST00000356173.3	-	10	748	c.656A>G	c.(655-657)cAt>cGt	p.H219R	SUN5_ENST00000375523.3_Missense_Mutation_p.H194R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	219	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GGCCTTCTCATGGTTATAGGT	0.597																																																	0													112	81	92					20																	31575539		2203	4300	6503	SO:0001583	missense	0			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"testis and spermatogenesis related gene 4"	613942	"sperm associated antigen 4-like"	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.656A>G	20.37:g.31575539T>C	ENSP00000348496:p.His219Arg		A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.H219R	ENST00000356173.3	37	c.656	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	T	9.120	1.008648	0.19199	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.11277	2.79;2.81	4.91	1.35	0.21983	Sad1/UNC-like, C-terminal (1);	0.399780	0.25205	N	0.032355	T	0.04543	0.0124	N	0.25647	0.755	0.34829	D	0.739528	P	0.49961	0.93	B	0.34722	0.188	T	0.47560	-0.9108	10	0.22109	T	0.4	-26.5921	3.9671	0.09436	0.0:0.167:0.1965:0.6366	.	219	Q8TC36	SUN5_HUMAN	R	219;194	ENSP00000348496:H219R;ENSP00000364673:H194R	ENSP00000348496:H219R	H	-	2	0	SUN5	31039200	0.954000	0.32549	0.994000	0.49952	0.780000	0.44128	1.437000	0.34991	0.688000	0.31529	0.459000	0.35465	CAT	SUN5	-	superfamily_Galactose-bd-like	ENSG00000167098		0.597	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	-	0	38	0	T	NM_080675		31575539	-1	tier1	-	no_errors	ENST00000356173	ensembl	human	known	74_37	missense	35.42	31	17	SNP	0.625	C	C	31575539	T	C	31575539	3	2	9	1	0	0	0	0	1	0	0	0	15441	1464	51	4	499	4	SUN5	20	31575539	Missense_Mutation	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	1381996	31575539	31449981	200	2604											
PLUNC	51297	genome.wustl.edu	37	chr20	31825905	31825905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggcctgttgggcattctgGaaaaccttccgctcctggac	6	10	13	12	1	1	0	0	0	1	0	3	2	3	2	4	5	1	3	4	5	2	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:31825905G>C	ENST00000354297.4	+	3	276	c.205G>C	c.(205-207)Gaa>Caa	p.E69Q	BPIFA1_ENST00000375413.4_Missense_Mutation_p.E69Q|BPIFA1_ENST00000375422.2_Missense_Mutation_p.E69Q	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	69					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GGGCATTCTGGAAAACCTTCC	0.567																																																	0													61	60	61					20																	31825905		2203	4300	6503	SO:0001583	missense	0			AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"BPI fold containing"	15749	protein-coding gene	gene with protein product		607412	"palate, lung and nasal epithelium carcinoma associated", "palate, lung and nasal epithelium associated"	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.205G>C	20.37:g.31825905G>C	ENSP00000346251:p.Glu69Gln		A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	p.E69Q	ENST00000354297.4	37	c.205	CCDS13217.1	20	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362556	0.24684	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.05382	3.45;3.45;3.45	5.43	-2.71	0.05986	.	0.580480	0.17514	N	0.171481	T	0.04227	0.0117	L	0.33753	1.03	0.09310	N	1	B	0.23937	0.094	B	0.25614	0.062	T	0.42137	-0.9469	10	0.23302	T	0.38	-0.079	7.3723	0.26808	0.1933:0.4806:0.326:0.0	.	69	Q9NP55	BPIA1_HUMAN	Q	69;69;69;55	ENSP00000364571:E69Q;ENSP00000346251:E69Q;ENSP00000364562:E69Q	ENSP00000346251:E69Q	E	+	1	0	BPIFA1	31289566	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	-0.472000	0.06623	-0.151000	0.11176	0.655000	0.94253	GAA	BPIFA1	-	pfam_Lipid-bd_serum_glycop_N	ENSG00000198183		0.567	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	BPIFA1	HGNC	protein_coding	OTTHUMT00000078667.2	-	0	57	0	G	NM_130852		31825905	1	tier1	-	no_errors	ENST00000354297	ensembl	human	known	74_37	missense	32.56	58	28	SNP	0.001	C	C	31825905	G	C	31825905	3	2	9	1	0	0	0	0	1	0	0	0	12154	1175	41	5	211	5	PLUNC	20	31825905	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	250366	31825905	31199615	201	2605											
GGT7	2686	genome.wustl.edu	37	chr20	33440292	33440292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggagtggggcaggggCtgcctgggagtcattgatat	8	8	19	6	0	1	1	1	1	0	0	1	3	1	3	1	7	1	3	1	7	1	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:33440292C>T	ENST00000336431.5	-	11	1413	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	457					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGGGCAGGGGCTGCCTGGGAG	0.577																																																	0													48	52	50					20																	33440292		2203	4300	6503	SO:0001583	missense	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1369G>A	20.37:g.33440292C>T	ENSP00000338964:p.Ala457Thr		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.A457T	ENST00000336431.5	37	c.1369	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710164	0.30322	.	.	ENSG00000131067	ENST00000336431	T	0.06371	3.31	6.17	3.26	0.37387	.	0.665097	0.16541	N	0.209956	T	0.02649	0.0080	N	0.05078	-0.115	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.45716	-0.9242	10	0.21014	T	0.42	-22.6109	3.0826	0.06267	0.1669:0.5435:0.1049:0.1846	.	457;457	A4FU32;Q9UJ14	.;GGT7_HUMAN	T	457	ENSP00000338964:A457T	ENSP00000338964:A457T	A	-	1	0	GGT7	32903953	0.065000	0.20965	0.998000	0.56505	0.998000	0.95712	0.448000	0.21726	0.501000	0.28013	0.655000	0.94253	GCC	GGT7	-	pfam_GGT_peptidase	ENSG00000131067		0.577	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0	66	0	C	NM_178026		33440292	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	missense	15.66	70	13	SNP	0.104	T	T	33440292	C	T	33440292	3	4	9	1	0	0	0	0	1	0	0	0	6390	797	28	3	639	3	GGT7	20	33440292	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	1614387	33440292	29585228	202	2606											
HNF4A	3172	genome.wustl.edu	37	chr20	43030116	43030116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatgtgcaggtgttgaCgatgggcaatggtaggtggg	9	10	19	3	1	0	2	0	2	0	1	0	4	0	2	0	5	1	4	0	5	3	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:43030116C>T	ENST00000316099.4	+	1	193	c.104C>T	c.(103-105)aCg>aTg	p.T35M	HNF4A_ENST00000609795.1_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.T35M|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000415691.2_Missense_Mutation_p.T35M|HNF4A_ENST00000457232.1_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	35					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T35K(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAGGTGTTGACGATGGGCAAT	0.587																																					Colon(79;2 1269 8820 14841 52347)												2	Substitution - Missense(2)	lung(2)											139	106	117					20																	43030116		2203	4300	6503	SO:0001583	missense	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.104C>T	20.37:g.43030116C>T	ENSP00000312987:p.Thr35Met		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.T35M	ENST00000316099.4	37	c.104	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965430	0.74131	.	.	ENSG00000101076	ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D	0.92647	-2.99;-3.08;-2.99	5.23	5.23	0.72850	.	820.741000	0.00166	N	0.000000	D	0.91112	0.7202	N	0.08118	0	0.32938	D	0.518044	P;P;D	0.60575	0.771;0.771;0.988	B;B;P	0.56343	0.205;0.411;0.796	D	0.83406	0.0025	10	0.42905	T	0.14	.	13.4078	0.60924	0.1572:0.8428:0.0:0.0	.	35;35;35	P41235;F1D8S2;P41235-3	HNF4A_HUMAN;.;.	M	35	ENSP00000312987:T35M;ENSP00000410911:T35M;ENSP00000412111:T35M	ENSP00000312987:T35M	T	+	2	0	HNF4A	42463530	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.771000	0.68881	2.440000	0.82611	0.555000	0.69702	ACG	HNF4A	-	NULL	ENSG00000101076		0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3		0	59	0	C			43030116	1			no_errors	ENST00000316099	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	43030116	C	T	43030116	3	4	9	1	0	0	0	0	1	0	0	0	7280	536	19	1	159	1	HNF4A	20	43030116	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	9589824	43030116	19995404	203	2607											
PREX1	57580	genome.wustl.edu	37	chr20	47351176	47351176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatactcctcgtacacgcaGaacttgtccttctgcaagac	11	10	6	14	2	1	2	0	0	1	2	4	2	3	2	2	0	4	3	2	0	5	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:47351176G>C	ENST00000371941.3	-	4	448	c.426C>G	c.(424-426)ttC>ttG	p.F142L	PREX1_ENST00000396220.1_Missense_Mutation_p.F142L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	142	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTACACGCAGAACTTGTCCT	0.562																																																	0													136	108	117					20																	47351176		2203	4300	6503	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.426C>G	20.37:g.47351176G>C	ENSP00000361009:p.Phe142Leu		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F142L	ENST00000371941.3	37	c.426	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850404	0.71719	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.68025	-0.3;-0.3	5.5	2.52	0.30459	Dbl homology (DH) domain (5);	0.000000	0.64402	U	0.000019	T	0.70064	0.3181	L	0.35593	1.075	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.66532	-0.5900	10	0.45353	T	0.12	.	10.2284	0.43241	0.2163:0.0:0.7837:0.0	.	142	Q8TCU6	PREX1_HUMAN	L	142	ENSP00000361009:F142L;ENSP00000379522:F142L	ENSP00000361009:F142L	F	-	3	2	PREX1	46784583	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	1.598000	0.36740	0.300000	0.22699	0.650000	0.86243	TTC	PREX1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000124126		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	-	0	24	0	G	NM_020820		47351176	-1	tier1	-	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	C	C	47351176	G	C	47351176	3	2	9	1	0	0	0	0	1	0	0	0	12518	933	33	5	4701	5	PREX1	20	47351176	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	4321060	47351176	15674344	204	2608											
DOK5	55816	genome.wustl.edu	37	chr20	53205284	53205284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtgtgtaggaacacggatCaatgacatcagccttggaga	13	8	13	7	1	2	2	2	1	0	1	2	6	2	4	1	3	2	1	1	3	3	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:53205284C>T	ENST00000262593.5	+	4	698	c.348C>T	c.(346-348)atC>atT	p.I116I	DOK5_ENST00000395939.1_Silent_p.I8I	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	116					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAACACGGATCAATGACATCA	0.458																																																	0													128	125	126					20																	53205284		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"Pleckstrin homology (PH) domain containing"	16173	protein-coding gene	gene with protein product		608334	"chromosome 20 open reading frame 180"	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.348C>T	20.37:g.53205284C>T			Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.I116	ENST00000262593.5	37	c.348	CCDS13446.1	20																																																																																			DOK5	-	NULL	ENSG00000101134		0.458	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	HGNC	protein_coding	OTTHUMT00000079777.2	-	0	77	0	C			53205284	1	tier1	-	no_errors	ENST00000262593	ensembl	human	known	74_37	silent	46.24	50	43	SNP	1.000	T	T	53205284	C	T	53205284	2	4	9	1	0	0	0	0	0	0	0	1	4714	816	29	3		3	DOK5	20	53205284	Silent	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	5854108	53205284	9820236	205	2609											
TH1L	51497	genome.wustl.edu	37	chr20	57569723	57569723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaatctaacttcatcatgGtgaactaatttagagcatcc	14	12	6	9	0	3	2	2	1	1	1	4	2	4	2	1	1	3	2	1	1	5	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:57569723G>T	ENST00000344018.3	+	15	1792	c.1765G>T	c.(1765-1767)Gtg>Ttg	p.V589L	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000602795.1_Missense_Mutation_p.V598L			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	589					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											CTTCATCATGGTGAACTAATT	0.398																																																	0													119	114	116					20																	57569723		2203	4300	6503	SO:0001583	missense	0			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.1765G>T	20.37:g.57569723G>T	ENSP00000342300:p.Val589Leu		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.V598L	ENST00000344018.3	37	c.1792		20	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670197	0.47677	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.15	4.2	0.49525	.	0.187418	0.48767	D	0.000163	T	0.36441	0.0967	N	0.13043	0.29	0.43355	D	0.995426	B	0.02656	0.0	B	0.04013	0.001	T	0.13469	-1.0508	9	0.29301	T	0.29	-26.6844	8.5049	0.33181	0.2496:0.0:0.7504:0.0	.	589	Q8IXH7	NELFD_HUMAN	L	589	.	ENSP00000342300:V589L	V	+	1	0	TH1L	57003118	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.839000	0.39220	1.308000	0.44962	-0.251000	0.11542	GTG	NELFCD	-	pfam_TH1	ENSG00000101158		0.398	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	NELFCD	HGNC	protein_coding		-	0	91	0	G	NM_198976		57569723	1	tier1	-	no_errors	ENST00000602795	ensembl	human	known	74_37	missense	41.38	51	36	SNP	1.000	T	T	57569723	G	T	57569723	3	4	9	1	0	0	0	0	1	0	0	0	15886	1261	44	3	1823	3	TH1L	20	57569723	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	4364439	57569723	5455797	206	2610											
MYT1	4661	genome.wustl.edu	37	chr20	62839660	62839660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacgagtcggagatgcagGacatgatgacccggggaaac	12	5	15	9	3	0	4	0	3	0	1	1	8	0	6	1	4	2	1	1	4	1	0			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr20:62839660G>T	ENST00000328439.1	+	7	1475	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	MYT1_ENST00000536311.1_Missense_Mutation_p.D371Y|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGATGCAGGACATGATGAC	0.622																																					GBM(59;481 1041 20555 21139 33705)												0													81	74	77					20																	62839660		2203	4300	6503	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1111G>T	20.37:g.62839660G>T	ENSP00000327465:p.Asp371Tyr		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D371Y	ENST00000328439.1	37	c.1111	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	g	14.73	2.623572	0.46840	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.29655	2.55;1.56	4.46	4.46	0.54185	.	0.055231	0.64402	D	0.000001	T	0.57695	0.2071	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.91635	0.999;0.735	T	0.63532	-0.6616	10	0.54805	T	0.06	-22.5659	17.157	0.86794	0.0:0.0:1.0:0.0	.	371;371	F5H7M8;Q01538	.;MYT1_HUMAN	Y	371	ENSP00000327465:D371Y;ENSP00000442412:D371Y	ENSP00000327465:D371Y	D	+	1	0	MYT1	62310104	1.000000	0.71417	0.902000	0.35471	0.467000	0.32768	9.529000	0.98049	2.051000	0.60960	0.450000	0.29827	GAC	MYT1	-	NULL	ENSG00000196132		0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	-	0	34	0	G	NM_004535		62839660	1	tier1	-	no_errors	ENST00000536311	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	T	T	62839660	G	T	62839660	3	4	9	1	0	0	0	0	1	0	0	0	10144	1174	41	3	1129	3	MYT1	20	62839660	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	5269937	62839660	185860	207	2611											
KRTAP11-1	337880	genome.wustl.edu	37	chr21	32253808	32253808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtcctccaatgggcctGgaagagcaatttcttgtgga	9	10	12	10	1	1	1	0	0	1	1	3	3	3	3	3	3	2	1	3	3	3	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr21:32253808G>A	ENST00000332378.4	-	1	66	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	12						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAATGGGCCTGGAAGAGCAAT	0.532																																																	0													98	91	93					21																	32253808		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.36C>T	21.37:g.32253808G>A			A1L4I8	Silent	SNP	pfam_KRTAP_PMG	p.S12	ENST00000332378.4	37	c.36	CCDS13608.1	21																																																																																			KRTAP11-1	-	pfam_KRTAP_PMG	ENSG00000182591		0.532	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1	-	0	38	0	G			32253808	-1	tier1	-	no_errors	ENST00000332378	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.991	A	A	32253808	G	A	32253808	2	1	9	1	0	0	0	0	0	0	0	1	8544	1335	47	3		3	KRTAP11-1	21	32253808	Silent	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09		32253808	15876087	208	2612											
TRPM2	7226	genome.wustl.edu	37	chr21	45799027	45799027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgagcgtgttcttcCaggagatgtttgagaccttc	10	12	11	8	1	1	4	0	2	1	3	3	6	2	4	2	1	2	2	2	1	1	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr21:45799027C>G	ENST00000397928.1	+	8	1607	c.1162C>G	c.(1162-1164)Cag>Gag	p.Q388E	TRPM2_ENST00000397932.2_Missense_Mutation_p.Q388E|TRPM2_ENST00000300482.5_Missense_Mutation_p.Q388E|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.Q388E	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	388					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTGTTCTTCCAGGAGATGTT	0.587																																																	0													126	91	103					21																	45799027		2203	4300	6503	SO:0001583	missense	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1162C>G	21.37:g.45799027C>G	ENSP00000381023:p.Gln388Glu		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.Q388E	ENST00000397928.1	37	c.1162	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.488311	0.01018	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	3.84	3.84	0.44239	.	0.501016	0.21925	N	0.067109	T	0.13415	0.0325	N	0.21282	0.65	0.27614	N	0.948552	B;B	0.31435	0.323;0.323	B;B	0.27380	0.079;0.079	T	0.12734	-1.0536	10	0.31617	T	0.26	-30.8331	12.0439	0.53469	0.1729:0.8271:0.0:0.0	.	388;388	E9PGK7;O94759	.;TRPM2_HUMAN	E	388	ENSP00000300482:Q388E;ENSP00000381023:Q388E;ENSP00000300481:Q388E;ENSP00000381026:Q388E	ENSP00000300481:Q388E	Q	+	1	0	TRPM2	44623455	0.951000	0.32395	1.000000	0.80357	0.391000	0.30476	1.779000	0.38624	1.971000	0.57363	0.563000	0.77884	CAG	TRPM2	-	NULL	ENSG00000142185		0.587	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1		0	52	0	C	NM_003307		45799027	1			no_errors	ENST00000300482	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	G	G	45799027	C	G	45799027	3	3	9	1	0	0	0	0	1	0	0	0	16634	595	21	5	1192	5	TRPM2	21	45799027	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	13545219	45799027	2330868	209	2613											
C21orf58	54058	genome.wustl.edu	37	chr21	47721986	47721988	+	In_Frame_Del	DEL	TGG	TGG	-																															ccccaggtggccacacagcaTggtggtggtggtggtggtgg																								rs144178764		TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr21:47721986_47721988delTGG	ENST00000291691.7	-	8	2030_2032	c.894_896delCCA	c.(892-897)caccat>cat	p.298_299HH>H	C21orf58_ENST00000397682.3_In_Frame_Del_p.192_193HH>H|C21orf58_ENST00000397680.1_In_Frame_Del_p.192_193HH>H|C21orf58_ENST00000397683.1_In_Frame_Del_p.192_193HH>H|C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397679.1_In_Frame_Del_p.192_193HH>H	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	298	Poly-His.							p.H299_A300insH(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CCACACAGCAtggtggtggtggt	0.704																																																	3	Insertion - In frame(3)	breast(2)|central_nervous_system(1)								573,1,211,2791		116,0,12,329,0,0,1,27,145,1158						-4.4	0		dbSNP_130	7	1951,10,230,4919		506,0,22,917,3,0,4,18,172,1913	no	codingComplex	C21orf58	NM_058180.3		622,0,34,1246,3,0,5,45,317,3071	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		30.8158,21.9519,27.8495				2524,11,441,7710				SO:0001651	inframe_deletion	0				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.894_896delCCA	21.37:g.47721995_47721997delTGG	ENSP00000291691:p.His299del		B3KPI1	In_Frame_Del	DEL	NULL	p.H299in_frame_del	ENST00000291691.7	37	c.896_894	CCDS13735.1	21																																																																																			C21orf58	-	NULL	ENSG00000160298		0.704	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	HGNC	protein_coding	OTTHUMT00000207283.1		0	36	0	TGG	NM_058180		47721988	-1	tier1		no_errors	ENST00000291691	ensembl	human	known	74_37	in_frame_del	5.71	33	2	DEL	0.001:0.001:0.001	-	-	47721988	TGG	-	47721986	7	5	9	1	0	1	0	1	0	0	0	0	2136	1464	51	0	76	0	C21orf58	21	47721986	In_Frame_Del	DEL	TGG	TCGA-2H-A9GN-01A-11D-A37C-09	1922959	47721986	407909	210	2614											
MYH9	4627	genome.wustl.edu	37	chr22	36685195	36685195	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcggaactgcttgttgAgccgctccagctccgccttc	4	10	11	16	4	0	1	0	1	0	0	3	2	2	2	5	1	5	4	5	1	1	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chr22:36685195A>C	ENST00000216181.5	-	32	4723	c.4493T>G	c.(4492-4494)cTc>cGc	p.L1498R		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1498					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGCTTGTTGAGCCGCTCCAG	0.642			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													94	71	78					22																	36685195		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4493T>G	22.37:g.36685195A>C	ENSP00000216181:p.Leu1498Arg		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1498R	ENST00000216181.5	37	c.4493	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	a	9.448	1.089726	0.20390	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.77229	-1.08	5.11	5.11	0.69529	Myosin tail (1);	0.263159	0.37857	N	0.001916	T	0.77096	0.4080	L	0.55481	1.735	0.80722	D	1	B	0.15719	0.014	B	0.30716	0.119	T	0.75897	-0.3155	10	0.87932	D	0	.	15.2021	0.73147	1.0:0.0:0.0:0.0	.	1498	P35579	MYH9_HUMAN	R	920;100;1498	ENSP00000216181:L1498R	ENSP00000216181:L1498R	L	-	2	0	MYH9	35015141	0.968000	0.33430	1.000000	0.80357	0.997000	0.91878	1.966000	0.40481	2.053000	0.61076	0.398000	0.26397	CTC	MYH9	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000100345		0.642	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	0	33	0	A	NM_002473		36685195	-1	tier1	-	no_errors	ENST00000216181	ensembl	human	known	74_37	missense	69.57	7	16	SNP	1.000	C	C	36685195	A	C	36685195	3	2	9	1	0	0	0	0	1	0	0	0	10080	304	11	4	1429	4	MYH9	22	36685195	Missense_Mutation	SNP	A	TCGA-2H-A9GN-01A-11D-A37C-09		36685195	14619371	211	2615											
CNKSR2	22866	genome.wustl.edu	37	chrX	21534649	21534649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcactacgagaggaccCgagtggtgttatcttaactt	11	11	11	8	2	1	1	0	0	1	1	1	5	1	2	1	2	3	2	1	2	4	4			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chrX:21534649C>G	ENST00000379510.3	+	9	893	c.857C>G	c.(856-858)cCg>cGg	p.P286R	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P286R|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P286R	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	286	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CGAGAGGACCCGAGTGGTGTT	0.423																																																	0													123	111	115					X																	21534649		2203	4300	6503	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.857C>G	X.37:g.21534649C>G	ENSP00000368824:p.Pro286Arg		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P286R	ENST00000379510.3	37	c.857	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577919	0.65878	.	.	ENSG00000149970	ENST00000425654;ENST00000279451;ENST00000379510	T;T;T	0.39056	1.1;1.1;1.1	5.25	5.25	0.73442	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68357	0.2992	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.975	D;D	0.74348	0.983;0.947	T	0.74287	-0.3714	10	0.72032	D	0.01	-1.7959	17.8997	0.88900	0.0:1.0:0.0:0.0	.	286;286	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	R	286	ENSP00000397906:P286R;ENSP00000279451:P286R;ENSP00000368824:P286R	ENSP00000279451:P286R	P	+	2	0	CNKSR2	21444570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.691000	0.68249	2.160000	0.67779	0.594000	0.82650	CCG	CNKSR2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000149970		0.423	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	-	0	75	0	C	NM_014927		21534649	1	tier1	-	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	79.17	15	57	SNP	1.000	G	G	21534649	C	G	21534649	3	3	9	1	0	0	0	0	1	0	0	0	3614	652	23	5	891	5	CNKSR2	23	21534649	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09		21534649	133735911	212	2616											
MAGEB4	4115	genome.wustl.edu	37	chrX	30261121	30261121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaagtcctggagtttttggCcaaggtgaatgacaccaccc	11	9	11	10	0	0	2	0	2	0	0	1	4	1	3	4	3	0	1	4	3	3	2			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chrX:30261121C>T	ENST00000378982.2	+	1	1065	c.869C>T	c.(868-870)gCc>gTc	p.A290V	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	290	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A290D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GAGTTTTTGGCCAAGGTGAAT	0.527																																																	1	Substitution - Missense(1)	breast(1)											74	74	74					X																	30261121		2202	4300	6502	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.869C>T	X.37:g.30261121C>T	ENSP00000368266:p.Ala290Val		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A290V	ENST00000378982.2	37	c.869	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466536	0.63625	.	.	ENSG00000120289	ENST00000378982	T	0.02498	4.27	3.16	1.29	0.21616	.	0.273246	0.27509	U	0.019058	T	0.13030	0.0316	M	0.89715	3.055	0.09310	N	1	D	0.69078	0.997	D	0.66602	0.945	T	0.05037	-1.0910	10	0.87932	D	0	.	5.1271	0.14890	0.2376:0.535:0.2275:0.0	.	290	O15481	MAGB4_HUMAN	V	290	ENSP00000368266:A290V	ENSP00000368266:A290V	A	+	2	0	MAGEB4	30171042	0.006000	0.16342	0.001000	0.08648	0.733000	0.41908	0.121000	0.15667	0.201000	0.20466	0.600000	0.82982	GCC	MAGEB4	-	pfscan_MAGE	ENSG00000120289		0.527	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	-	0	39	0	C	NM_002367		30261121	1	tier1	-	no_errors	ENST00000378982	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.001	T	T	30261121	C	T	30261121	3	4	9	1	0	0	0	0	1	0	0	0	9216	739	26	3	871	3	MAGEB4	23	30261121	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	8726472	30261121	125009439	213	2617											
PFKFB1	5207	genome.wustl.edu	37	chrX	54982677	54982677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccttttcccggtcacagtCtatataatcagggctgccaa	11	11	7	12	1	3	0	2	0	1	0	4	0	4	0	3	2	2	1	3	2	5	5			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chrX:54982677C>T	ENST00000375006.3	-	7	617	c.547G>A	c.(547-549)Gac>Aac	p.D183N	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.D118N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	183	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CGGTCACAGTCTATATAATCA	0.473																																																	0													74	66	69					X																	54982677		2203	4300	6503	SO:0001583	missense	0				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.547G>A	X.37:g.54982677C>T	ENSP00000364145:p.Asp183Asn		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.D183N	ENST00000375006.3	37	c.547	CCDS14364.1	X	.	.	.	.	.	.	.	.	.	.	C	6.794	0.515493	0.12944	.	.	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.65	2.86	0.33363	6-phosphofructo-2-kinase (1);	0.196263	0.51477	D	0.000095	T	0.34308	0.0893	N	0.16656	0.425	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.07790	-1.0754	9	0.09338	T	0.73	-7.3822	8.9372	0.35706	0.0:0.7647:0.1468:0.0886	.	118;183	B4DUN5;P16118	.;F261_HUMAN	N	183;118	.	ENSP00000364145:D183N	D	-	1	0	PFKFB1	54999402	0.998000	0.40836	0.846000	0.33378	0.487000	0.33371	3.831000	0.55776	0.471000	0.27319	0.600000	0.82982	GAC	PFKFB1	-	pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	ENSG00000158571		0.473	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	-	0	36	0	C			54982677	-1	tier1	-	no_errors	ENST00000375006	ensembl	human	known	74_37	missense	80.00	3	12	SNP	0.991	T	T	54982677	C	T	54982677	3	4	9	1	0	0	0	0	1	0	0	0	11799	913	32	3	900	3	PFKFB1	23	54982677	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	24721556	54982677	100287883	214	2618											
TBC1D8B	54885	genome.wustl.edu	37	chrX	106066577	106066577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttttcaatgtttttgcaCattaaccaaacataccttct	12	17	2	10	0	2	0	1	0	1	0	2	0	2	0	2	0	5	2	2	0	5	8			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chrX:106066577C>G	ENST00000357242.5	+	5	882	c.708C>G	c.(706-708)caC>caG	p.H236Q	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.H236Q|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.H236Q|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.H236Q	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	236							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTTTTTGCACATTAACCAAA	0.353																																																	0													125	110	115					X																	106066577		2203	4300	6503	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.708C>G	X.37:g.106066577C>G	ENSP00000349781:p.His236Gln		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.H236Q	ENST00000357242.5	37	c.708	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901460	0.52227	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.22539	3.14;2.56;1.95;3.13	5.73	1.78	0.24846	.	0.063738	0.64402	D	0.000008	T	0.30541	0.0768	M	0.66939	2.045	0.38813	D	0.955466	D;B;P	0.57899	0.981;0.415;0.872	P;B;B	0.53360	0.724;0.196;0.301	T	0.05305	-1.0893	10	0.62326	D	0.03	-13.8434	7.7212	0.28733	0.0:0.5954:0.0:0.4046	.	236;236;236	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	Q	236	ENSP00000349781:H236Q;ENSP00000310675:H236Q;ENSP00000421375:H236Q;ENSP00000276175:H236Q	ENSP00000276175:H236Q	H	+	3	2	TBC1D8B	105953233	0.997000	0.39634	0.991000	0.47740	0.922000	0.55478	0.526000	0.22971	-0.083000	0.12618	-0.931000	0.02705	CAC	TBC1D8B	-	NULL	ENSG00000133138		0.353	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	-	0	55	0	C	NM_017752		106066577	1	tier1	-	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	G	G	106066577	C	G	106066577	3	3	9	1	0	0	0	0	1	0	0	0	15673	477	17	5	726	5	TBC1D8B	23	106066577	Missense_Mutation	SNP	C	TCGA-2H-A9GN-01A-11D-A37C-09	51083900	106066577	49203983	215	2619											
GPR112	139378	genome.wustl.edu	37	chrX	135430821	135430821	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctccaacagagccaacTttgccctttgtaaaaaccgt	11	11	5	14	1	1	1	0	0	1	1	3	1	2	1	4	0	5	1	4	0	5	3			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chrX:135430821T>G	ENST00000394143.1	+	6	5247	c.4956T>G	c.(4954-4956)acT>acG	p.T1652T	GPR112_ENST00000370652.1_Silent_p.T1652T|GPR112_ENST00000287534.4_Silent_p.T1589T|GPR112_ENST00000394141.1_Silent_p.T1447T|GPR112_ENST00000412101.1_Silent_p.T1447T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1652					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGAGCCAACTTTGCCCTTTG	0.463																																																	0													151	149	150					X																	135430821		2203	4300	6503	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4956T>G	X.37:g.135430821T>G			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T1652	ENST00000394143.1	37	c.4956	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	19	0	T			135430821	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	silent	41.67	14	10	SNP	0.000	G	G	135430821	T	G	135430821	2	3	9	1	0	0	0	0	0	0	0	1	6655	1596	56	4		4	GPR112	23	135430821	Silent	SNP	T	TCGA-2H-A9GN-01A-11D-A37C-09	29364244	135430821	19839739	216	2620											
GPR112	139378	genome.wustl.edu	37	chrX	135445724	135445724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacttcctgacaagattGtggatcttgctaatattacc	13	13	7	8	0	1	3	0	1	1	2	2	4	2	4	2	1	3	1	2	1	6	6			TCGA-2H-A9GN-01A-11D-A37C-09	TCGA-2H-A9GN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0ee65e5-b8ae-4ca2-9f7d-c1bf89dcd80d	fc594ce0-d420-4d5f-a048-884c5a935e71	g.chrX:135445724G>T	ENST00000394143.1	+	13	7657	c.7366G>T	c.(7366-7368)Gtg>Ttg	p.V2456L	GPR112_ENST00000370652.1_Missense_Mutation_p.V2456L|GPR112_ENST00000287534.4_Missense_Mutation_p.V2254L|GPR112_ENST00000394141.1_Missense_Mutation_p.V2251L|GPR112_ENST00000412101.1_Missense_Mutation_p.V2251L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2456					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACAAGATTGTGGATCTTGC	0.358																																																	0													113	105	108					X																	135445724		2203	4300	6503	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7366G>T	X.37:g.135445724G>T	ENSP00000377699:p.Val2456Leu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.V2456L	ENST00000394143.1	37	c.7366	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129848	0.37630	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28255	1.66;1.66;1.62;1.83;1.62	5.67	2.84	0.33178	.	.	.	.	.	T	0.15782	0.0380	N	0.14661	0.345	0.19300	N	0.999973	B;B	0.16603	0.018;0.01	B;B	0.16722	0.016;0.005	T	0.28170	-1.0052	9	0.24483	T	0.36	.	4.8857	0.13701	0.1881:0.0:0.6331:0.1788	.	2251;2456	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	L	2456;2456;2251;2254;2251	ENSP00000377699:V2456L;ENSP00000359686:V2456L;ENSP00000416526:V2251L;ENSP00000287534:V2254L;ENSP00000377697:V2251L	ENSP00000287534:V2254L	V	+	1	0	GPR112	135273390	0.962000	0.33011	1.000000	0.80357	0.995000	0.86356	-0.244000	0.08903	0.511000	0.28236	0.600000	0.82982	GTG	GPR112	-	NULL	ENSG00000156920		0.358	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	30	0	G			135445724	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	135445724	G	T	135445724	3	4	9	1	0	0	0	0	1	0	0	0	6655	1377	48	3	7404	3	GPR112	23	135445724	Missense_Mutation	SNP	G	TCGA-2H-A9GN-01A-11D-A37C-09	14903	135445724	19824836	217	2621											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6527943	6527943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattcggtagagctgggccaGggtcagcttcctgtgctggg	5	10	17	9	1	1	1	1	0	0	1	3	2	2	1	2	4	3	4	2	4	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:6527943G>C	ENST00000400915.3	-	21	3187	c.3121C>G	c.(3121-3123)Ctg>Gtg	p.L1041V	TNFRSF25_ENST00000348333.3_5'Flank|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.L985V|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P918R|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.L985V|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.L985V|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.L1054V|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P918R|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.L985V|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.L1064V|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.L831V|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.L1022V|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.L1062V	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	1041					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGGCCAGGGTCAGCTTC	0.667																																																	0													31	34	33					1																	6527943		2202	4300	6502	SO:0001583	missense	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.3121C>G	1.37:g.6527943G>C	ENSP00000383706:p.Leu1041Val		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1064V	ENST00000400915.3	37	c.3190	CCDS41241.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.50|12.50	1.956238|1.956238	0.34565|0.34565	.|.	.|.	ENSG00000171680|ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245|ENST00000377725;ENST00000544978	T;T;T;T;T;T;T;T;T;T|T;T	0.74737|0.64991	-0.79;-0.81;-0.81;-0.79;-0.87;-0.79;-0.81;-0.8;-0.81;-0.8|-0.13;-0.13	5.49|5.49	2.52|2.52	0.30459|0.30459	.|.	0.250782|.	0.33477|.	N|.	0.004874|.	T|T	0.46756|0.46756	0.1409|0.1409	N|N	0.20986|0.20986	0.625|0.625	0.28128|0.28128	N|N	0.930328|0.930328	P;B;P;P|B	0.40619|0.23806	0.724;0.132;0.724;0.603|0.091	B;B;B;B|B	0.43155|0.25884	0.41;0.028;0.41;0.232|0.064	T|T	0.43972|0.43972	-0.9358|-0.9358	10|9	0.30078|0.87932	T|D	0.28|0	-10.8986|-10.8986	7.5551|7.5551	0.27819|0.27819	0.3522:0.0:0.6477:0.0|0.3522:0.0:0.6477:0.0	.|.	1054;831;1062;1041|918	F5GZ21;Q5SY18;O94827-2;O94827|O94827-4	.;.;.;PKHG5_HUMAN|.	V|R	1062;985;985;1041;831;1022;985;1054;985;891;1064|918	ENSP00000366977:L1062V;ENSP00000344570:L985V;ENSP00000383704:L985V;ENSP00000383706:L1041V;ENSP00000366969:L831V;ENSP00000366961:L1022V;ENSP00000366957:L985V;ENSP00000441445:L1054V;ENSP00000366966:L985V;ENSP00000439625:L1064V|ENSP00000366954:P918R;ENSP00000437710:P918R	ENSP00000344570:L985V|ENSP00000366954:P918R	L|P	-|-	1|2	2|0	PLEKHG5|PLEKHG5	6450530|6450530	0.111000|0.111000	0.22076|0.22076	0.974000|0.974000	0.42286|0.42286	0.947000|0.947000	0.59692|0.59692	0.411000|0.411000	0.21115|0.21115	0.245000|0.245000	0.21373|0.21373	0.563000|0.563000	0.77884|0.77884	CTG|CCT	PLEKHG5	-	NULL	ENSG00000171680		0.667	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	-	0	37	0	G	NM_020631		6527943	-1	tier1	-	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.990	C	C	6527943	G	C	6527943	3	2	10	1	0	0	0	0	1	0	0	0	12112	991	35	5	75	5	PLEKHG5	1	6527943	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		6527943	242722678	1	2622											
PRAMEF11	440560	genome.wustl.edu	37	chr1	12885133	12885133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggcaggatggcgttgacTtgggagtctatgatgccaca	9	9	15	8	1	1	2	0	2	1	0	1	4	1	4	1	4	1	3	1	4	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:12885133T>C	ENST00000535591.1	-	4	1173	c.978A>G	c.(976-978)caA>caG	p.Q326Q	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	326					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGGCGTTGACTTGGGAGTCTA	0.512																																																	0													10	7	8					1																	12885133		689	1562	2251	SO:0001819	synonymous_variant	0			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.978A>G	1.37:g.12885133T>C				Silent	SNP	NULL	p.Q326	ENST00000535591.1	37	c.978	CCDS53268.1	1																																																																																			PRAMEF11	-	NULL	ENSG00000204513		0.512	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		-	0	202	0	T	XM_496341		12885133	-1	tier1	-	no_errors	ENST00000535591	ensembl	human	known	74_37	silent	25.68	136	47	SNP	0.020	C	C	12885133	T	C	12885133	2	2	10	1	0	0	0	0	0	0	0	1	12469	1606	56	4		4	PRAMEF11	1	12885133	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	6357190	12885133	236365488	2	2623											
FBLIM1	54751	genome.wustl.edu	37	chr1	16101328	16101328	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcactgggtggggtgcaggGacagggcgagacccaagcag	9	4	19	9	1	0	1	0	0	0	1	0	3	0	2	1	5	3	3	1	5	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:16101328G>A	ENST00000375766.3	+	7	1530				FBLIM1_ENST00000441801.2_Silent_p.G309G|FBLIM1_ENST00000400773.1_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000332305.5_Intron	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1						cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GGGGTGCAGGGACAGGGCGAG	0.552																																																	0													70	73	72					1																	16101328		2203	4300	6503	SO:0001627	intron_variant	0				CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.890+37G>A	1.37:g.16101328G>A			B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G309	ENST00000375766.3	37	c.927	CCDS163.1	1																																																																																			FBLIM1	-	NULL	ENSG00000162458		0.552	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FBLIM1	HGNC	protein_coding	OTTHUMT00000008511.3	-	0	38	0	G	NM_001024215		16101328	1	tier1	-	no_errors	ENST00000441801	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.001	A	A	16101328	G	A	16101328	1	1	10	0	1	0	0	0	0	0	0	0	5719	1161	41	3		3	FBLIM1	1	16101328	Intron	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	3216195	16101328	233149293	3	2624											
ALPL	249	genome.wustl.edu	37	chr1	21902315	21902315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgggccatcgggcaggcaGgcagcttgacctcctcggaa	8	5	14	14	3	0	1	0	1	0	0	3	2	1	2	4	5	1	4	4	5	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:21902315G>A	ENST00000374840.3	+	10	1337	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ALPL_ENST00000374830.1_Missense_Mutation_p.G9S|ALPL_ENST00000374832.1_Missense_Mutation_p.G363S|ALPL_ENST00000374829.1_Missense_Mutation_p.G9S|ALPL_ENST00000425315.2_Missense_Mutation_p.G363S|ALPL_ENST00000539907.1_Missense_Mutation_p.G286S|ALPL_ENST00000540617.1_Missense_Mutation_p.G308S	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	363					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	CGGGCAGGCAGGCAGCTTGAC	0.597																																																	0													160	151	154					1																	21902315		2203	4300	6503	SO:0001583	missense	0			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1087G>A	1.37:g.21902315G>A	ENSP00000363973:p.Gly363Ser		A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.G363S	ENST00000374840.3	37	c.1087	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	G	1.881	-0.457754	0.04508	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79;-3.79;-3.79	4.91	4.91	0.64330	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.110962	0.64402	D	0.000010	D	0.91297	0.7256	L	0.31120	0.905	0.41069	D	0.985431	B;B;B	0.20988	0.005;0.05;0.035	B;B;B	0.30572	0.019;0.058;0.117	D	0.86702	0.1930	10	0.06625	T	0.88	-20.4234	15.6037	0.76646	0.0:0.0:1.0:0.0	.	286;311;363	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	S	286;308;363;363;363;9;9	ENSP00000437674:G286S;ENSP00000442672:G308S;ENSP00000363973:G363S;ENSP00000363965:G363S;ENSP00000394765:G363S;ENSP00000363963:G9S;ENSP00000363962:G9S	ENSP00000363962:G9S	G	+	1	0	ALPL	21774902	0.964000	0.33143	0.018000	0.16275	0.003000	0.03518	2.215000	0.42862	2.280000	0.76307	0.561000	0.74099	GGC	ALPL	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000162551		0.597	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	HGNC	protein_coding	OTTHUMT00000008202.1	-	0	58	0	G	NM_000478		21902315	1	tier1	-	no_errors	ENST00000374832	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.583	A	A	21902315	G	A	21902315	3	1	10	1	0	0	0	0	1	0	0	0	547	1000	35	3	1121	3	ALPL	1	21902315	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	5800987	21902315	227348306	4	2625											
C1QB	713	genome.wustl.edu	37	chr1	22987762	22987762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accggtggcatggtcctcaaGctggagcagggggagaacgt	9	6	17	9	2	1	1	1	0	0	1	2	3	2	2	2	6	3	3	2	6	2	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:22987762G>T	ENST00000314933.6	+	3	777	c.645G>T	c.(643-645)aaG>aaT	p.K215N	C1QB_ENST00000509305.1_Missense_Mutation_p.K213N	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	215	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGTCCTCAAGCTGGAGCAGG	0.582																																																	0													63	58	60					1																	22987762		2203	4300	6503	SO:0001583	missense	0			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"Complement system"	1242	protein-coding gene	gene with protein product		120570	"complement component 1, q subcomponent, beta polypeptide"			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.645G>T	1.37:g.22987762G>T	ENSP00000313967:p.Lys215Asn		Q5T959|Q96H17	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K215N	ENST00000314933.6	37	c.645	CCDS228.1	1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050110	0.36181	.	.	ENSG00000173369	ENST00000509305;ENST00000432749;ENST00000314933	T;T;T	0.75704	-0.96;-0.96;-0.96	4.67	3.76	0.43208	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.330083	0.31624	N	0.007332	T	0.79707	0.4492	L	0.58669	1.825	0.28683	N	0.905017	D	0.58268	0.982	P	0.59703	0.862	T	0.73594	-0.3933	9	.	.	.	.	11.6155	0.51088	0.087:0.0:0.913:0.0	.	215	P02746	C1QB_HUMAN	N	213;213;215	ENSP00000423689:K213N;ENSP00000404606:K213N;ENSP00000313967:K215N	.	K	+	3	2	C1QB	22860349	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	2.157000	0.42320	1.335000	0.45486	0.561000	0.74099	AAG	C1QB	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000173369		0.582	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	HGNC	protein_coding			0	28	0	G	NM_000491		22987762	1			no_errors	ENST00000314933	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	22987762	G	T	22987762	3	4	10	1	0	0	0	0	1	0	0	0	1962	962	34	3	651	3	C1QB	1	22987762	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1085447	22987762	226262859	5	2626											
PHC2	1912	genome.wustl.edu	37	chr1	33794743	33794743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaaaggggcacagtgcctGttggctgggagcagagagtt	9	7	17	8	1	0	1	0	0	0	1	0	4	0	2	2	4	2	5	2	4	1	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:33794743G>A	ENST00000257118.5	-	13	2203	c.2150C>T	c.(2149-2151)aCa>aTa	p.T717I	PHC2_ENST00000373422.3_Missense_Mutation_p.T323I|PHC2_ENST00000373418.3_Missense_Mutation_p.T182I|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Missense_Mutation_p.T182I|PHC2_ENST00000431992.1_Missense_Mutation_p.T688I|PHC2_ENST00000419414.2_Missense_Mutation_p.T718I	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	717					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CACAGTGCCTGTTGGCTGGGA	0.498																																																	0													56	52	53					1																	33794743		2203	4300	6503	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.2150C>T	1.37:g.33794743G>A	ENSP00000257118:p.Thr717Ile		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.T718I	ENST00000257118.5	37	c.2153	CCDS378.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.13|13.13	2.144019|2.144019	0.37825|0.37825	.|.	.|.	ENSG00000134686|ENSG00000134686	ENST00000307890|ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000419414;ENST00000373416	.|T;T;T;T	.|0.44881	.|1.9;1.47;0.91;1.9	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.453119	.|0.25863	.|N	.|0.027804	.|T	.|0.23171	.|0.0560	N|N	0.04959|0.04959	-0.14|-0.14	0.27604|0.27604	N|N	0.948871|0.948871	.|B;B;B;B	.|0.12630	.|0.004;0.004;0.004;0.006	.|B;B;B;B	.|0.18561	.|0.006;0.006;0.006;0.022	.|T	.|0.10543	.|-1.0625	.|10	0.11794|0.38643	T|T	0.64|0.18	-10.3051|-10.3051	11.0032|11.0032	0.47618|0.47618	0.0838:0.0:0.9162:0.0|0.0838:0.0:0.9162:0.0	.|.	.|718;689;717;132	.|A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.|.;.;PHC2_HUMAN;.	X|I	295|688;717;323;182;718;182	.|ENSP00000389436:T688I;ENSP00000257118:T717I;ENSP00000362521:T323I;ENSP00000391440:T718I	ENSP00000310685:Q295X|ENSP00000257118:T717I	Q|T	-|-	1|2	0|0	PHC2|PHC2	33567330|33567330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.333000|5.333000	0.65917|0.65917	2.771000|2.771000	0.95319|0.95319	0.561000|0.561000	0.74099|0.74099	CAG|ACA	PHC2	-	NULL	ENSG00000134686		0.498	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1		0	48	0	G	NM_198040		33794743	-1			no_errors	ENST00000419414	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.978	A	A	33794743	G	A	33794743	3	1	10	1	0	0	0	0	1	0	0	0	11856	1377	48	3	434	3	PHC2	1	33794743	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	10806981	33794743	215455878	6	2627											
GRIK3	2899	genome.wustl.edu	37	chr1	37356630	37356630	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatgttggcagaaaaTcgaaaggcatgctcctcggc	11	10	12	8	2	0	3	0	2	0	1	3	4	1	3	1	3	1	4	1	3	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:37356630T>G	ENST00000373091.3	-	2	199	c.183A>C	c.(181-183)cgA>cgC	p.R61R	GRIK3_ENST00000373093.4_Silent_p.R61R	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	61					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGGCAGAAAATCGAAAGGCAT	0.502																																																	0													299	253	269					1																	37356630		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.183A>C	1.37:g.37356630T>G			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R61	ENST00000373091.3	37	c.183	CCDS416.1	1																																																																																			GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.502	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	78	0	T	NM_000831		37356630	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	silent	36.11	46	26	SNP	0.998	G	G	37356630	T	G	37356630	2	3	10	1	0	0	0	0	0	0	0	1	6802	1422	50	4		4	GRIK3	1	37356630	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	3561887	37356630	211893991	7	2628											
INPP5B	3633	genome.wustl.edu	37	chr1	38355337	38355337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaaatatgagccttgtccGacactgtgatagtggaggag	13	10	12	6	1	0	2	0	2	0	0	1	5	1	4	2	2	1	0	2	2	4	4	rs376586874		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:38355337G>A	ENST00000373026.1	-	8	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L	INPP5B_ENST00000373024.3_Missense_Mutation_p.S230L|INPP5B_ENST00000467066.1_5'Flank|INPP5B_ENST00000373023.2_Missense_Mutation_p.S310L|INPP5B_ENST00000373027.1_Missense_Mutation_p.S66L|INPP5B_ENST00000458109.2_5'UTR			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	310					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGCCTTGTCCGACACTGTGAT	0.393																																																	0								G	LEU/SER	0,3724		0,0,1862	157	148	151		689	5.8	0.9	1		151	1,8199		0,1,4099	no	missense	INPP5B	NM_005540.2	145	0,1,5961	AA,AG,GG		0.0122,0.0,0.0084	benign	230/914	38355337	1,11923	1862	4100	5962	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.929C>T	1.37:g.38355337G>A	ENSP00000362117:p.Ser310Leu		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S310L	ENST00000373026.1	37	c.929		1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146218	0.37923	0.0	1.22E-4	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93133	-3.17;-3.06;-3.06;-3.01	5.85	5.85	0.93711	.	1.390210	0.04226	N	0.334457	D	0.93194	0.7832	M	0.64404	1.975	0.80722	D	1	P;P	0.48016	0.904;0.865	B;B	0.39217	0.154;0.294	D	0.85347	0.1099	10	0.54805	T	0.06	.	15.7433	0.77920	0.0:0.0:0.8629:0.1371	.	310;230	P32019;P32019-2	I5P2_HUMAN;.	L	66;310;310;310;230	ENSP00000362118:S66L;ENSP00000362114:S310L;ENSP00000362117:S310L;ENSP00000362115:S230L	ENSP00000362114:S310L	S	-	2	0	INPP5B	38127924	0.984000	0.35163	0.943000	0.38184	0.186000	0.23388	4.275000	0.58927	2.768000	0.95171	0.655000	0.94253	TCG	INPP5B	-	NULL	ENSG00000204084		0.393	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	-	0	46	0	G	NM_005540		38355337	-1	tier1	-	no_errors	ENST00000373023	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.472	A	A	38355337	G	A	38355337	3	1	10	1	0	0	0	0	1	0	0	0	7782	1059	37	1	2116	1	INPP5B	1	38355337	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	998707	38355337	210895284	8	2629											
PTPRF	5792	genome.wustl.edu	37	chr1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggagaggagcagcGgcggcggcggcggcaggcag	8	0	23	10	6	0	1	0	0	0	1	0	3	0	2	0	9	2	4	0	9	1	0	rs377569778	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0	5008	,	,		15712	0		0	False		,,,				2504	0																0								G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41	52	48		3521,3494	2.1	1	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R1174Q	ENST00000359947.4	37	c.3521	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG	PTPRF	-	NULL	ENSG00000142949		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0	103	0	G			44071948	1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.889	A	A	44071948	G	A	44071948	3	1	10	1	0	0	0	0	1	0	0	0	12846	1116	39	1	3591	1	PTPRF	1	44071948	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	5716611	44071948	205178673	9	2630											
ABCD3	5825	genome.wustl.edu	37	chr1	94930395	94930395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggctcatacagattcTgaaaatcatggtccctagaa	14	10	7	10	0	4	3	3	1	1	2	5	3	5	3	1	2	1	1	1	2	6	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:94930395T>C	ENST00000370214.4	+	3	236	c.212T>C	c.(211-213)cTg>cCg	p.L71P	ABCD3_ENST00000315713.5_Missense_Mutation_p.L71P|ABCD3_ENST00000454898.2_Missense_Mutation_p.L95P|ABCD3_ENST00000536817.1_5'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.L71P	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	71	Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATACAGATTCTGAAAATCATG	0.368																																																	0													112	111	111					1																	94930395		2203	4300	6503	SO:0001583	missense	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.212T>C	1.37:g.94930395T>C	ENSP00000359233:p.Leu71Pro		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.L95P	ENST00000370214.4	37	c.284	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183561	0.78677	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000370214;ENST00000315713	D;D;D;D	0.99751	-6.63;-6.63;-6.63;-6.63	5.78	5.78	0.91487	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);	0.071511	0.56097	D	0.000024	D	0.99816	0.9919	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.988;0.999	D;D;D;D	0.78314	0.981;0.991;0.972;0.971	D	0.96809	0.9595	10	0.87932	D	0	-7.7971	14.627	0.68629	0.0:0.0:0.0:1.0	.	95;71;71;71	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	P	71;95;71;71	ENSP00000377780:L71P;ENSP00000403357:L95P;ENSP00000359233:L71P;ENSP00000326880:L71P	ENSP00000326880:L71P	L	+	2	0	ABCD3	94702983	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.858000	0.69532	2.333000	0.79357	0.533000	0.62120	CTG	ABCD3	-	pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,tigrfam_FA_transporter	ENSG00000117528		0.368	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	-	0	59	0	T	NM_002858		94930395	1	tier1	-	no_errors	ENST00000454898	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C	C	94930395	T	C	94930395	3	2	10	1	0	0	0	0	1	0	0	0	62	1580	55	4	222	4	ABCD3	1	94930395	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	50858447	94930395	154320226	10	2631											
PPM1J	333926	genome.wustl.edu	37	chr1	113253406	113253406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcttgatgggcagggtgGaactgcagaccttaaggctg	9	8	17	7	0	0	2	0	1	0	1	0	3	0	3	1	5	2	4	1	5	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:113253406G>A	ENST00000309276.6	-	8	1353	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Silent_p.F74F|PPM1J_ENST00000359994.4_Missense_Mutation_p.S187F|PPM1J_ENST00000464951.1_Missense_Mutation_p.S187F	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	393	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAGGGTGGAACTGCAGAC	0.572																																																	0													114	109	111					1																	113253406		2203	4300	6503	SO:0001583	missense	0			AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	20785	protein-coding gene	gene with protein product	"protein phosphatase 2C zeta"	609957	"protein phosphatase 1J (PP2C domain containing)"			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.1178C>T	1.37:g.113253406G>A	ENSP00000308926:p.Ser393Phe		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.S393F	ENST00000309276.6	37	c.1178	CCDS855.2	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144110	0.77888	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.09630	2.96;2.96	5.34	5.34	0.76211	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.20129	0.0484	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.976	T	0.01182	-1.1426	10	0.87932	D	0	-19.5948	18.6692	0.91504	0.0:0.0:1.0:0.0	.	393;187	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	F	393;187	ENSP00000308926:S393F;ENSP00000353088:S187F	ENSP00000308926:S393F	S	-	2	0	PPM1J	113054929	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	9.763000	0.98947	2.514000	0.84764	0.485000	0.47835	TCC	PPM1J	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000155367		0.572	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1J	HGNC	protein_coding	OTTHUMT00000033251.1	-	0	49	0	G	NM_005167		113253406	-1	tier1	-	no_errors	ENST00000309276	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	113253406	G	A	113253406	3	1	10	1	0	0	0	0	1	0	0	0	12384	1174	41	3	351	3	PPM1J	1	113253406	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	18323011	113253406	135997215	11	2632											
FAM63A	55793	genome.wustl.edu	37	chr1	150975149	150975149	+	5'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttactaacctcagggactTgcctaagccaggcttgggat	9	11	11	10	0	1	0	1	0	0	0	1	2	1	2	3	3	4	2	3	3	3	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:150975149T>C	ENST00000361936.5	-	0	899				FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000361738.6_Missense_Mutation_p.Q30R|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000493834.2_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCAGGGACTTGCCTAAGCCA	0.507																																																	0													38	31	33					1																	150975149		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.-56A>G	1.37:g.150975149T>C			B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.Q30R	ENST00000361936.5	37	c.89	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.255822	0.39896	.	.	ENSG00000143409	ENST00000361738	T	0.45276	0.9	5.03	2.73	0.32206	.	1.125190	0.07099	N	0.840086	T	0.14141	0.0342	.	.	.	0.09310	N	1	B	0.26195	0.144	B	0.27796	0.083	T	0.36986	-0.9725	9	0.51188	T	0.08	3.0015	5.0193	0.14352	0.0:0.0959:0.1981:0.7059	.	30	Q8N5J2-3	.	R	30	ENSP00000354669:Q30R	ENSP00000354669:Q30R	Q	-	2	0	FAM63A	149241773	0.000000	0.05858	0.014000	0.15608	0.314000	0.28054	0.215000	0.17562	0.401000	0.25424	0.533000	0.62120	CAA	FAM63A	-	NULL	ENSG00000143409		0.507	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	-	0	49	0	T	NM_018379		150975149	-1	tier1	-	no_errors	ENST00000361738	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.005	C	C	150975149	T	C	150975149	1	2	10	0	1	0	0	0	0	0	0	0	5618	1812	63	4		4	FAM63A	1	150975149	5'UTR	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	37721743	150975149	98275472	12	2633											
FLG2	388698	genome.wustl.edu	37	chr1	152329098	152329098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaccattactacaagactgGctacctccagacccatattg	12	10	6	13	0	0	3	0	1	0	2	1	3	1	3	4	1	3	1	4	1	5	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:152329098G>T	ENST00000388718.5	-	3	1236	c.1164C>A	c.(1162-1164)agC>agA	p.S388R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	388	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TACAAGACTGGCTACCTCCAG	0.438																																																	0													126	119	122					1																	152329098		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1164C>A	1.37:g.152329098G>T	ENSP00000373370:p.Ser388Arg		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S388R	ENST00000388718.5	37	c.1164	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768756	0.31320	.	.	ENSG00000143520	ENST00000388718	T	0.18657	2.2	5.09	1.05	0.20165	.	.	.	.	.	T	0.03915	0.0110	L	0.47716	1.5	0.09310	N	1	P	0.38827	0.649	B	0.32211	0.142	T	0.38308	-0.9667	9	0.15066	T	0.55	-5.0946	3.6343	0.08143	0.5663:0.0:0.0946:0.3391	.	388	Q5D862	FILA2_HUMAN	R	388	ENSP00000373370:S388R	ENSP00000373370:S388R	S	-	3	2	FLG2	150595722	0.000000	0.05858	0.236000	0.24074	0.004000	0.04260	-0.340000	0.07821	0.037000	0.15575	-0.290000	0.09829	AGC	FLG2	-	NULL	ENSG00000143520		0.438	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	79	0	G	NM_001014342		152329098	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.085	T	T	152329098	G	T	152329098	3	4	10	1	0	0	0	0	1	0	0	0	5945	1194	42	3	6015	3	FLG2	1	152329098	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1353949	152329098	96921523	13	2634											
NPR1	4881	genome.wustl.edu	37	chr1	153665880	153665880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggagagggggagtagcaCccgaggctgacctgcctcct	7	6	17	11	1	0	2	0	1	0	1	1	5	1	3	4	5	2	3	4	5	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:153665880C>T	ENST00000368680.3	+	22	3648	c.3176C>T	c.(3175-3177)aCc>aTc	p.T1059I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	1059					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGGAGTAGCACCCGAGGCTGA	0.627																																					Pancreas(141;1349 1870 15144 15830 40702)												0													67	66	66					1																	153665880		2203	4300	6503	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3176C>T	1.37:g.153665880C>T	ENSP00000357669:p.Thr1059Ile		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.T1059I	ENST00000368680.3	37	c.3176	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610231	0.46527	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.83163	-1.69	4.59	4.59	0.56863	.	0.562382	0.15381	N	0.265302	T	0.65801	0.2726	L	0.43152	1.355	0.80722	D	1	B;P	0.40144	0.056;0.704	B;B	0.28916	0.035;0.096	T	0.71471	-0.4583	10	0.45353	T	0.12	.	14.9597	0.71147	0.0:1.0:0.0:0.0	.	538;1059	B7Z4Y7;P16066	.;ANPRA_HUMAN	I	1059;538	ENSP00000357669:T1059I	ENSP00000357669:T1059I	T	+	2	0	NPR1	151932504	0.194000	0.23325	1.000000	0.80357	0.945000	0.59286	0.594000	0.24014	2.368000	0.80403	0.462000	0.41574	ACC	NPR1	-	NULL	ENSG00000169418		0.627	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0	24	0	C	NM_000906		153665880	1	tier1	-	no_errors	ENST00000368680	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.994	T	T	153665880	C	T	153665880	3	4	10	1	0	0	0	0	1	0	0	0	10633	507	18	3	3262	3	NPR1	1	153665880	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	1336782	153665880	95584741	14	2635											
DENND4B	9909	genome.wustl.edu	37	chr1	153916619	153916619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaagtccagcactgagttCcaaggggtggcccccagcag	10	5	13	13	0	0	2	0	1	0	1	2	2	2	2	4	3	2	3	4	3	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:153916619C>T	ENST00000361217.4	-	2	650	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	78	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCACTGAGTTCCAAGGGGTGG	0.632																																																	0													39	45	43					1																	153916619		1960	4150	6110	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.232G>A	1.37:g.153916619C>T	ENSP00000354597:p.Glu78Lys		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E78K	ENST00000361217.4	37	c.232	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.462594	0.96240	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.25579	1.79;1.79	4.16	4.16	0.48862	MABP domain (1);	.	.	.	.	T	0.19127	0.0459	L	0.43152	1.355	0.58432	D	0.999999	D	0.55172	0.97	P	0.46172	0.506	T	0.03651	-1.1016	9	0.87932	D	0	-0.1703	15.7271	0.77770	0.0:1.0:0.0:0.0	.	78	O75064	DEN4B_HUMAN	K	78;89	ENSP00000354597:E78K;ENSP00000357635:E89K	ENSP00000354597:E78K	E	-	1	0	DENND4B	152183243	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.418000	0.80167	2.310000	0.77875	0.462000	0.41574	GAA	DENND4B	-	pfscan_uDENN_dom	ENSG00000198837		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0	65	0	C	XM_375806		153916619	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	13.25	71	11	SNP	1.000	T	T	153916619	C	T	153916619	3	4	10	1	0	0	0	0	1	0	0	0	4448	864	30	3	4366	3	DENND4B	1	153916619	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	250739	153916619	95334002	15	2636											
SPTA1	6708	genome.wustl.edu	37	chr1	158631199	158631199	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggaagcaatcaggtcctttCctgcagaggaaaggaatttc	12	10	11	8	0	1	1	1	0	0	1	4	4	3	4	2	4	2	2	2	4	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:158631199C>G	ENST00000368147.4	-	18	2645	c.2465G>C	c.(2464-2466)gGa>gCa	p.G822A		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	822					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGGTCCTTTCCTGCAGAGGA	0.428																																																	0													116	108	111					1																	158631199		1857	4102	5959	SO:0001630	splice_region_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2465-1G>C	1.37:g.158631199C>G			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.G822A	ENST00000368147.4	37	c.2465	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205326	0.58234	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39406	1.08;1.08	4.93	4.93	0.64822	.	.	.	.	.	T	0.69061	0.3069	M	0.93978	3.48	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.76887	-0.2793	9	0.56958	D	0.05	.	16.8857	0.86075	0.0:1.0:0.0:0.0	.	822	P02549	SPTA1_HUMAN	A	822	ENSP00000357130:G822A;ENSP00000357129:G822A	ENSP00000357129:G822A	G	-	2	0	SPTA1	156897823	1.000000	0.71417	0.879000	0.34478	0.143000	0.21401	6.420000	0.73349	2.545000	0.85829	0.650000	0.86243	GGA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	64	0	C	NM_003126	Missense_Mutation	158631199	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	14.81	69	12	SNP	1.000	G	G	158631199	C	G	158631199	5	3	10	1	0	0	0	0	0	0	1	0	15163	869	30	5	4934	5	SPTA1	1	158631199	Splice_Site	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	4714580	158631199	90619422	16	2637											
SPTA1	6708	genome.wustl.edu	37	chr1	158645985	158645985	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagggcacgaatatgcTcccagctggagaccagatct	10	7	12	12	1	1	2	0	0	1	2	2	4	2	2	3	3	2	3	3	3	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:158645985T>C	ENST00000368147.4	-	8	1238	c.1058A>G	c.(1057-1059)gAg>gGg	p.E353G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	353					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGAATATGCTCCCAGCTGGA	0.493																																																	0													170	161	164					1																	158645985		1916	4132	6048	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1058A>G	1.37:g.158645985T>C	ENSP00000357129:p.Glu353Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E353G	ENST00000368147.4	37	c.1058	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.664201	0.29604	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.37584	1.19;1.19	4.95	-2.22	0.06952	.	0.256213	0.20348	N	0.094117	T	0.13114	0.0318	L	0.60957	1.885	0.22330	N	0.999192	B	0.12013	0.005	B	0.17979	0.02	T	0.33214	-0.9877	10	0.51188	T	0.08	.	7.3017	0.26424	0.0:0.1456:0.3493:0.5052	.	353	P02549	SPTA1_HUMAN	G	353	ENSP00000357130:E353G;ENSP00000357129:E353G	ENSP00000357129:E353G	E	-	2	0	SPTA1	156912609	0.986000	0.35501	0.003000	0.11579	0.522000	0.34438	2.601000	0.46249	-0.210000	0.10140	-0.250000	0.11733	GAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	48	0	T	NM_003126		158645985	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	39.39	40	26	SNP	0.371	C	C	158645985	T	C	158645985	3	2	10	1	0	0	0	0	1	0	0	0	15163	1551	54	4	6381	4	SPTA1	1	158645985	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	14786	158645985	90604636	17	2638											
CACNA1E	777	genome.wustl.edu	37	chr1	181701790	181701790	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagccgtggggggtccctCaagggggatggaggggaccg	7	5	20	9	2	2	0	2	0	0	0	3	3	3	3	3	8	1	0	3	8	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:181701790C>A	ENST00000367573.2	+	20	2568	c.2568C>A	c.(2566-2568)ctC>ctA	p.L856L	CACNA1E_ENST00000367570.1_Silent_p.L856L|CACNA1E_ENST00000358338.5_Silent_p.L788L|CACNA1E_ENST00000526775.1_Silent_p.L837L|CACNA1E_ENST00000357570.5_Silent_p.L807L|CACNA1E_ENST00000360108.3_Silent_p.L837L|CACNA1E_ENST00000367567.4_Silent_p.L463L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	856					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGGGTCCCTCAAGGGGGATG	0.682																																																	0													11	14	13					1																	181701790		1898	4099	5997	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2568C>A	1.37:g.181701790C>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.L856	ENST00000367573.2	37	c.2568	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.682	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	55	0	C	NM_000721		181701790	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	7.25	64	5	SNP	0.987	A	A	181701790	C	A	181701790	2	1	10	1	0	0	0	0	0	0	0	1	2549	813	29	3		3	CACNA1E	1	181701790	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	23055805	181701790	67548831	18	2639											
HMCN1	83872	genome.wustl.edu	37	chr1	186007987	186007987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggtacaaagataatcgtCtactctcaggttccaccagc	12	10	7	12	1	2	1	1	0	2	1	5	1	3	1	2	2	3	2	2	2	4	4	rs551177452		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:186007987C>G	ENST00000271588.4	+	38	6107	c.5878C>G	c.(5878-5880)Cta>Gta	p.L1960V	HMCN1_ENST00000367492.2_Missense_Mutation_p.L1960V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1960	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATAATCGTCTACTCTCAGG	0.358																																																	0													114	112	112					1																	186007987		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5878C>G	1.37:g.186007987C>G	ENSP00000271588:p.Leu1960Val		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L1960V	ENST00000271588.4	37	c.5878	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	6.359	0.434299	0.12045	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66815	-0.23;-0.23	6.06	6.06	0.98353	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.155509	0.64402	D	0.000017	T	0.62780	0.2456	L	0.43701	1.375	0.27466	N	0.952999	B	0.27971	0.196	B	0.35073	0.195	T	0.56294	-0.8003	10	0.30078	T	0.28	.	14.7454	0.69488	0.0:0.9296:0.0:0.0704	.	1960	Q96RW7	HMCN1_HUMAN	V	1960	ENSP00000271588:L1960V;ENSP00000356462:L1960V	ENSP00000271588:L1960V	L	+	1	2	HMCN1	184274610	0.310000	0.24527	0.017000	0.16124	0.021000	0.10359	2.777000	0.47717	2.882000	0.98803	0.655000	0.94253	CTA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.358	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	53	0	C	NM_031935		186007987	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.899	G	G	186007987	C	G	186007987	3	3	10	1	0	0	0	0	1	0	0	0	7247	912	32	5	6028	5	HMCN1	1	186007987	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	4306197	186007987	63242634	19	2640											
KCNT2	343450	genome.wustl.edu	37	chr1	196250003	196250003	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaacctcagatgtagtaAgtttctgagactcagtcctg	11	12	8	10	0	3	2	2	1	1	2	5	3	5	2	3	0	1	3	3	0	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:196250003A>C	ENST00000294725.9	-	25	3812	c.2897T>G	c.(2896-2898)cTt>cGt	p.L966R	KCNT2_ENST00000367433.5_Missense_Mutation_p.L942R|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L892R|KCNT2_ENST00000367431.4_Missense_Mutation_p.L892R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.L966R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGATGTAGTAAGTTTCTGAGA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											93	95	94					1																	196250003		2203	4300	6503	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2897T>G	1.37:g.196250003A>C	ENSP00000294725:p.Leu966Arg		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.L966R	ENST00000294725.9	37	c.2897	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021575	0.54576	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78246	-1.16;-1.16;-1.16	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000056	T	0.77075	0.4077	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.51147	0.904;0.942;0.714;0.823;0.904	B;P;P;P;B	0.49799	0.418;0.622;0.499;0.499;0.418	T	0.73216	-0.4053	10	0.13470	T	0.59	-12.0344	14.9129	0.70773	1.0:0.0:0.0:0.0	.	966;924;942;892;966	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	R	942;892;966	ENSP00000356403:L942R;ENSP00000356401:L892R;ENSP00000294725:L966R	ENSP00000294725:L966R	L	-	2	0	KCNT2	194516626	1.000000	0.71417	0.507000	0.27676	0.995000	0.86356	8.347000	0.90062	2.222000	0.72286	0.455000	0.32223	CTT	KCNT2	-	NULL	ENSG00000162687		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	61	0	A	NM_198503		196250003	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	21.43	44	12	SNP	0.977	C	C	196250003	A	C	196250003	3	2	10	1	0	0	0	0	1	0	0	0	8119	72	3	4	526	4	KCNT2	1	196250003	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	10242016	196250003	53000618	20	2641											
USH2A	7399	genome.wustl.edu	37	chr1	215963479	215963479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactccattacagcatttCtggctctttggaataagttc	10	14	6	11	0	2	0	0	0	2	0	4	1	3	1	2	2	3	3	2	2	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:215963479C>A	ENST00000307340.3	-	51	10490	c.10104G>T	c.(10102-10104)caG>caT	p.Q3368H	USH2A_ENST00000366943.2_Missense_Mutation_p.Q3368H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3368					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q3368Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACAGCATTTCTGGCTCTTTG	0.388										HNSCC(13;0.011)																																							1	Substitution - coding silent(1)	lung(1)											126	122	123					1																	215963479		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10104G>T	1.37:g.215963479C>A	ENSP00000305941:p.Gln3368His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q3368H	ENST00000307340.3	37	c.10104	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748418	0.69533	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.14022	2.54;2.54	5.76	5.76	0.90799	Fibronectin, type III (2);	0.170694	0.27705	N	0.018186	T	0.19485	0.0468	M	0.65975	2.015	0.34925	D	0.74883	P	0.49961	0.93	P	0.44732	0.459	T	0.25117	-1.0141	10	0.87932	D	0	.	10.068	0.42315	0.0:0.8473:0.0:0.1527	.	3368	O75445	USH2A_HUMAN	H	3368	ENSP00000305941:Q3368H;ENSP00000355910:Q3368H	ENSP00000305941:Q3368H	Q	-	3	2	USH2A	214030102	0.963000	0.33076	0.957000	0.39632	0.997000	0.91878	1.728000	0.38105	2.713000	0.92767	0.655000	0.94253	CAG	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	54	0	C	NM_007123		215963479	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	215963479	C	A	215963479	3	1	10	1	0	0	0	0	1	0	0	0	17085	912	32	3	5592	3	USH2A	1	215963479	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	19713476	215963479	33287142	21	2642											
KMO	8564	genome.wustl.edu	37	chr1	241714280	241714280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcccaaggtattcccatgaGagcaagaatgatccactctc	13	9	7	12	0	1	3	0	2	1	2	5	4	4	3	3	1	1	2	3	1	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr1:241714280G>A	ENST00000366559.4	+	4	559	c.248G>A	c.(247-249)aGa>aAa	p.R83K	KMO_ENST00000366557.4_Missense_Mutation_p.R83K|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366558.3_Missense_Mutation_p.R83K	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)											NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ATTCCCATGAGAGCAAGAATG	0.378																																																	0													189	185	187					1																	241714280		2203	4300	6503	SO:0001583	missense	0			AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.248G>A	1.37:g.241714280G>A	ENSP00000355517:p.Arg83Lys			Missense_Mutation	SNP	pfam_mOase_FAD-bd,prints_Rng_hydrolase-like	p.R83K	ENST00000366559.4	37	c.248	CCDS1618.1	1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639767	0.29157	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.48522	0.81;0.81;0.81	6.17	4.22	0.49857	Monooxygenase, FAD-binding (1);	0.297863	0.40908	N	0.000998	T	0.29491	0.0735	L	0.28054	0.825	0.26352	N	0.977182	B;B;B	0.15141	0.009;0.009;0.012	B;B;B	0.16289	0.015;0.015;0.009	T	0.20907	-1.0261	10	0.11182	T	0.66	.	8.1265	0.31001	0.1954:0.0:0.8046:0.0	.	83;83;83	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	K	83	ENSP00000355517:R83K;ENSP00000355516:R83K;ENSP00000355515:R83K	ENSP00000355515:R83K	R	+	2	0	KMO	239780903	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.508000	0.35769	0.844000	0.35094	-0.345000	0.07892	AGA	KMO	-	pfam_mOase_FAD-bd	ENSG00000117009		0.378	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMO	HGNC	protein_coding	OTTHUMT00000095612.1	-	0	84	0	G	NM_003679		241714280	1	tier1	-	no_errors	ENST00000366559	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	241714280	G	A	241714280	3	1	10	1	0	0	0	0	1	0	0	0	8451	942	33	3	262	3	KMO	1	241714280	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	25750801	241714280	7536341	22	2643											
PXDN	7837	genome.wustl.edu	37	chr2	1658253	1658253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatggaggtagctacaaacGgatctccatttcgactgacg	11	9	11	10	4	1	1	0	1	1	0	3	5	1	3	1	3	3	2	1	3	3	3	rs368643195		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:1658253G>A	ENST00000252804.4	-	15	1915	c.1865C>T	c.(1864-1866)cCg>cTg	p.P622L		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	622					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCTACAAACGGATCTCCATT	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		19287	0		0	False		,,,				2504	0																0								G	LEU/PRO	0,3910		0,0,1955	102	97	99		1865	5.4	0.8	2		99	1,8301		0,1,4150	no	missense	PXDN	NM_012293.1	98	0,1,6105	AA,AG,GG		0.012,0.0,0.0082	possibly-damaging	622/1480	1658253	1,12211	1955	4151	6106	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1865C>T	2.37:g.1658253G>A	ENSP00000252804:p.Pro622Leu		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.P622L	ENST00000252804.4	37	c.1865	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.75|13.75	2.330958|2.330958	0.41297|0.41297	0.0|0.0	1.2E-4|1.2E-4	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.61392|.	0.11|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.110671|.	0.64402|.	D|.	0.000006|.	T|T	0.56963|0.56963	0.2021|0.2021	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P;P|.	0.43826|.	0.775;0.818|.	B;B|.	0.40256|.	0.324;0.279|.	T|T	0.51505|0.51505	-0.8697|-0.8697	10|5	0.34782|.	T|.	0.22|.	-36.3819|-36.3819	18.815|18.815	0.92073|0.92073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	622;622|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	L|C	622|618	ENSP00000252804:P622L|.	ENSP00000252804:P622L|.	P|R	-|-	2|1	0|0	PXDN|PXDN	1637260|1637260	1.000000|1.000000	0.71417|0.71417	0.827000|0.827000	0.32855|0.32855	0.418000|0.418000	0.31294|0.31294	6.021000|6.021000	0.70832|0.70832	2.555000|2.555000	0.86185|0.86185	0.478000|0.478000	0.44815|0.44815	CCG|CGT	PXDN	-	NULL	ENSG00000130508		0.428	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	50	0	G	XM_056455		1658253	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	36.84	24	14	SNP	0.996	A	A	1658253	G	A	1658253	3	1	10	1	0	0	0	0	1	0	0	0	12892	1116	39	1	2610	1	PXDN	2	1658253	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		1658253	241541120	23	2644											
IAH1	285148	genome.wustl.edu	37	chr2	9618381	9618381	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgaatcgtggattttcAggttacaataccaggtgggc	9	13	12	7	1	2	1	1	1	1	0	3	2	2	2	1	4	2	2	1	4	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:9618381A>G	ENST00000497473.1	+	3	202	c.165A>G	c.(163-165)tcA>tcG	p.S55S	IAH1_ENST00000545602.1_5'UTR|IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000470914.1_5'UTR	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	55					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTGGATTTTCAGGTTACAATA	0.388																																																	0													86	80	82					2																	9618381		1828	4087	5915	SO:0001819	synonymous_variant	0			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.165A>G	2.37:g.9618381A>G			B4DMV3	Splice_Site	SNP	-	e2-2	ENST00000497473.1	37	c.82-2	CCDS42651.1	2	.	.	.	.	.	.	.	.	.	.	A	15.31	2.796995	0.50208	.	.	ENSG00000134330	ENST00000481367	.	.	.	5.86	3.43	0.39272	.	.	.	.	.	T	0.47097	0.1427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33137	-0.9880	4	.	.	.	-19.5264	3.6715	0.08276	0.4581:0.0:0.151:0.3908	.	.	.	.	R	35	.	.	Q	+	2	0	IAH1	9535832	0.042000	0.20092	1.000000	0.80357	0.973000	0.67179	-0.528000	0.06193	0.444000	0.26612	0.533000	0.62120	CAG	IAH1	-	-	ENSG00000134330		0.388	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IAH1	HGNC	protein_coding	OTTHUMT00000353192.1		0	74	0	A	NM_001039613		9618381	1			no_errors	ENST00000492223	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	0.979	G	G	9618381	A	G	9618381	2	3	10	1	0	0	0	0	0	0	0	1	7498	175	7	4		4	IAH1	2	9618381	Silent	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	7960128	9618381	233580992	24	2645											
KCNF1	3754	genome.wustl.edu	37	chr2	11053168	11053168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcatgggcaccatccccGagctgcaggtgctggacgcc	6	7	14	14	2	0	0	0	0	0	0	1	2	1	1	4	3	4	5	4	3	0	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:11053168G>A	ENST00000295082.1	+	1	1106	c.616G>A	c.(616-618)Gag>Aag	p.E206K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	206					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CACCATCCCCGAGCTGCAGGT	0.672																																																	0													48	53	51					2																	11053168		2203	4299	6502	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.616G>A	2.37:g.11053168G>A	ENSP00000295082:p.Glu206Lys		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.E206K	ENST00000295082.1	37	c.616	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327302	0.81690	.	.	ENSG00000162975	ENST00000295082	D	0.97710	-4.5	5.11	5.11	0.69529	.	0.152217	0.64402	D	0.000020	D	0.95746	0.8616	M	0.68317	2.08	0.58432	D	0.999998	P	0.40638	0.725	B	0.29663	0.105	D	0.95334	0.8432	10	0.24483	T	0.36	.	18.9073	0.92467	0.0:0.0:1.0:0.0	.	206	Q9H3M0	KCNF1_HUMAN	K	206	ENSP00000295082:E206K	ENSP00000295082:E206K	E	+	1	0	KCNF1	10970619	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	9.813000	0.99286	2.523000	0.85059	0.655000	0.94253	GAG	KCNF1	-	prints_K_chnl_volt-dep_Kv1	ENSG00000162975		0.672	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	-	0	61	0	G	NM_002236		11053168	1	tier1	-	no_errors	ENST00000295082	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	A	A	11053168	G	A	11053168	3	1	10	1	0	0	0	0	1	0	0	0	8053	1059	37	1	618	1	KCNF1	2	11053168	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1434787	11053168	232146205	25	2646											
ITSN2	50618	genome.wustl.edu	37	chr2	24443832	24443832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctcgacgacgagctgaagGtcagccatgtaccgctcttc	9	8	10	14	4	2	1	1	1	1	0	4	4	2	1	3	1	3	3	3	1	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:24443832G>T	ENST00000355123.4	-	30	4124	c.3681C>A	c.(3679-3681)gaC>gaA	p.D1227E	AC009228.1_ENST00000430105.1_RNA|ITSN2_ENST00000361999.3_Missense_Mutation_p.D1200E|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000406921.3_Missense_Mutation_p.D1227E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1227	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGCTGAAGGTCAGCCATGT	0.547																																																	0													212	180	191					2																	24443832		2203	4300	6503	SO:0001583	missense	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3681C>A	2.37:g.24443832G>T	ENSP00000347244:p.Asp1227Glu		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Splice_Site	SNP	-	NULL	ENST00000355123.4	37	c.NULL	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466618	0.43839	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.64260	-0.09;-0.09;-0.09;1.39	4.64	-1.35	0.09114	Dbl homology (DH) domain (5);	0.000000	0.38436	U	0.001696	T	0.76492	0.3995	M	0.85859	2.78	0.39319	D	0.965216	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.99;0.99;0.994	T	0.77895	-0.2417	10	0.87932	D	0	.	10.7001	0.45922	0.604:0.0:0.396:0.0	.	1227;1200;1227	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	E	1200;1227;1200;1227	ENSP00000354561:D1200E;ENSP00000347244:D1227E;ENSP00000370250:D1200E;ENSP00000384499:D1227E	ENSP00000347244:D1227E	D	-	3	2	ITSN2	24297336	0.986000	0.35501	0.887000	0.34795	0.962000	0.63368	0.099000	0.15210	-0.159000	0.11021	0.561000	0.74099	GAC	AC009228.1	-	-	ENSG00000242628		0.547	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000242628	Clone_based_vega_gene	protein_coding	OTTHUMT00000207620.2	-	0	34	0	G	NM_006277		24443832	1	tier1	-	no_errors	ENST00000430105	ensembl	human	known	74_37	splice_site	32.00	17	8	SNP	0.980	T	T	24443832	G	T	24443832	3	4	10	1	0	0	0	0	1	0	0	0	7954	1252	44	3	1507	3	ITSN2	2	24443832	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	13390664	24443832	218755541	26	2647											
BIRC6	57448	genome.wustl.edu	37	chr2	32695336	32695336	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatttattgtcacctcttCagccacagttacccatgcat	11	14	4	12	0	3	0	2	0	1	0	3	0	3	0	3	0	3	2	3	0	3	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:32695336C>T	ENST00000421745.2	+	31	6582	c.6448C>T	c.(6448-6450)Cag>Tag	p.Q2150*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2150					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCACCTCTTCAGCCACAGTT	0.333																																					Pancreas(94;175 1509 16028 18060 45422)												0													63	60	61					2																	32695336		2201	4293	6494	SO:0001587	stop_gained	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6448C>T	2.37:g.32695336C>T	ENSP00000393596:p.Gln2150*		Q9ULD1	Nonsense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.Q2150*	ENST00000421745.2	37	c.6448	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	48	14.488700	0.99797	.	.	ENSG00000115760	ENST00000421745	.	.	.	5.2	5.2	0.72013	.	0.151747	0.46442	D	0.000282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	18.7847	0.91949	0.0:1.0:0.0:0.0	.	.	.	.	X	2150	.	ENSP00000393596:Q2150X	Q	+	1	0	BIRC6	32548840	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.798000	0.85924	2.442000	0.82660	0.585000	0.79938	CAG	BIRC6	-	NULL	ENSG00000115760		0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	56	0	C	NM_016252		32695336	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	1.000	T	T	32695336	C	T	32695336	4	4	10	1	0	0	0	0	0	1	0	0	1440	827	29	3	6570	3	BIRC6	2	32695336	Nonsense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	8251504	32695336	210504037	27	2648											
CNRIP1	25927	genome.wustl.edu	37	chr2	68544421	68544421	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccagtgggacaagcacAccaccaatggaaatattcct	14	8	8	11	0	0	0	0	0	0	0	2	2	2	2	4	2	1	2	4	2	4	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:68544421A>T	ENST00000263655.3	-	2	803	c.198T>A	c.(196-198)ggT>ggA	p.G66G	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Silent_p.G66G|CNRIP1_ENST00000409559.3_Silent_p.G66G	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	66										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GGACAAGCACACCACCAATGG	0.473																																																	0													122	111	115					2																	68544421		2203	4300	6503	SO:0001819	synonymous_variant	0			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.198T>A	2.37:g.68544421A>T			B2R4D0|Q49AN4|Q9UFZ0	Silent	SNP	NULL	p.G66	ENST00000263655.3	37	c.198	CCDS1886.1	2																																																																																			CNRIP1	-	NULL	ENSG00000119865		0.473	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNRIP1	HGNC	protein_coding	OTTHUMT00000251758.1	-	0	70	0	A	NM_015463		68544421	-1	tier1	-	no_errors	ENST00000263655	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.984	T	T	68544421	A	T	68544421	2	4	10	1	0	0	0	0	0	0	0	1	3640	146	6	5		5	CNRIP1	2	68544421	Silent	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	35849085	68544421	174654952	28	2649											
CNNM4	26504	genome.wustl.edu	37	chr2	97427930	97427930	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttcaacaccatgtcGgagataatggaaagcggcta	13	8	11	9	2	1	1	1	0	0	1	2	4	1	3	1	4	2	1	1	4	4	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:97427930G>T	ENST00000377075.2	+	1	1292	c.1194G>T	c.(1192-1194)tcG>tcT	p.S398S		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	398	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.S398S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502																																																	1	Substitution - coding silent(1)	lung(1)											114	103	107					2																	97427930		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1194G>T	2.37:g.97427930G>T			B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Silent	SNP	pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S398	ENST00000377075.2	37	c.1194	CCDS2024.2	2																																																																																			CNNM4	-	NULL	ENSG00000158158		0.502	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	-	0	51	0	G	NM_020184		97427930	1	tier1	-	no_errors	ENST00000377075	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.281	T	T	97427930	G	T	97427930	2	4	10	1	0	0	0	0	0	0	0	1	3622	1103	39	2		2	CNNM4	2	97427930	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	28883509	97427930	145771443	29	2650											
MFSD9	84804	genome.wustl.edu	37	chr2	103335284	103335284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtacagccgtaggattggCcccagggcaaggccggccac	8	6	14	13	2	0	0	0	0	0	0	0	1	0	1	5	5	2	3	5	5	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:103335284C>T	ENST00000258436.5	-	6	1063	c.1020G>A	c.(1018-1020)ggG>ggA	p.G340G	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	340					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GTAGGATTGGCCCCAGGGCAA	0.632																																																	0													54	50	51					2																	103335284		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.1020G>A	2.37:g.103335284C>T			Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.G340	ENST00000258436.5	37	c.1020	CCDS2063.1	2																																																																																			MFSD9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000135953		0.632	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2		0	26	0	C	NM_032718		103335284	-1			no_errors	ENST00000258436	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.993	T	T	103335284	C	T	103335284	2	4	10	1	0	0	0	0	0	0	0	1	9577	726	26	3		3	MFSD9	2	103335284	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	5907354	103335284	139864089	30	2651											
SH3RF3	344558	genome.wustl.edu	37	chr2	110065908	110065908	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccacatccagccccaccaAcacgggatgcaaactagacg	13	4	8	16	2	0	1	0	0	0	1	2	2	2	2	5	1	4	1	5	1	3	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:110065908A>C	ENST00000309415.6	+	8	2111	c.2111A>C	c.(2110-2112)aAc>aCc	p.N704T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	704							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCCCACCAACACGGGATGC	0.582																																																	0													38	42	40					2																	110065908		1985	4156	6141	SO:0001583	missense	0			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"RING-type (C3HC4) zinc fingers"	24699	protein-coding gene	gene with protein product			"SH3 multiple domains 4"	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.2111A>C	2.37:g.110065908A>C	ENSP00000309186:p.Asn704Thr		A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING	p.N704T	ENST00000309415.6	37	c.2111		2	.	.	.	.	.	.	.	.	.	.	A	1.227	-0.625288	0.03610	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.57107	0.42;2.24	4.9	-0.355	0.12587	.	0.804040	0.12126	N	0.497211	T	0.33876	0.0878	.	.	.	0.20074	N	0.999935	B	0.20780	0.048	B	0.15052	0.012	T	0.18618	-1.0331	9	0.21540	T	0.41	-16.524	10.1567	0.42827	0.5866:0.0:0.4134:0.0	.	704	Q8TEJ3	SH3R3_HUMAN	T	704	ENSP00000414997:N704T;ENSP00000309186:N704T	ENSP00000309186:N704T	N	+	2	0	SH3RF3	109432340	0.522000	0.26266	0.037000	0.18230	0.170000	0.22686	0.370000	0.20433	-0.199000	0.10317	0.533000	0.62120	AAC	SH3RF3	-	NULL	ENSG00000172985		0.582	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	SH3RF3	HGNC	protein_coding		-	0	72	0	A	NM_001099289		110065908	1	tier1	-	no_errors	ENST00000309415	ensembl	human	known	74_37	missense	42.50	46	34	SNP	0.073	C	C	110065908	A	C	110065908	3	2	10	1	0	0	0	0	1	0	0	0	14305	43	2	4	2141	4	SH3RF3	2	110065908	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	6730624	110065908	133133465	31	2652											
LRP1B	53353	genome.wustl.edu	37	chr2	141607790	141607790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtctatcacagtaacgTcatcaatatcagggactgta	14	10	8	9	2	5	0	4	0	1	0	5	2	5	1	0	1	1	2	0	1	6	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:141607790T>A	ENST00000389484.3	-	29	5791	c.4820A>T	c.(4819-4821)gAc>gTc	p.D1607V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1607					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACAGTAACGTCATCAATATC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													167	159	162					2																	141607790		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4820A>T	2.37:g.141607790T>A	ENSP00000374135:p.Asp1607Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D1607V	ENST00000389484.3	37	c.4820	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.661846	0.88251	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;T	0.91068	-2.78;1.57	5.54	5.54	0.83059	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	U	0.000001	D	0.91942	0.7448	L	0.40543	1.245	0.80722	D	1	D;D	0.63880	0.97;0.993	P;P	0.59357	0.856;0.77	D	0.92515	0.6020	10	0.56958	D	0.05	.	15.6848	0.77400	0.0:0.0:0.0:1.0	.	790;1607	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	V	1607;1545;752	ENSP00000374135:D1607V;ENSP00000413239:D752V	ENSP00000374135:D1607V	D	-	2	0	LRP1B	141324260	1.000000	0.71417	0.997000	0.53966	0.669000	0.39330	7.992000	0.88273	2.122000	0.65172	0.260000	0.18958	GAC	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	66	0	T	NM_018557		141607790	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	20.00	59	15	SNP	1.000	A	A	141607790	T	A	141607790	3	1	10	1	0	0	0	0	1	0	0	0	8990	1667	58	5	9231	5	LRP1B	2	141607790	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	31541882	141607790	101591583	32	2653											
BAZ2B	29994	genome.wustl.edu	37	chr2	160289805	160289805	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatttgacaaagctgcaaTaaccttcttcaggctcttcg	10	13	8	10	1	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	3	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:160289805T>G	ENST00000392783.2	-	9	1858	c.1363A>C	c.(1363-1365)Att>Ctt	p.I455L	BAZ2B_ENST00000343439.5_Missense_Mutation_p.I453L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.I453L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.I455L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAAGCTGCAATAACCTTCTTC	0.368																																																	0													213	200	204					2																	160289805		1888	4116	6004	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1363A>C	2.37:g.160289805T>G	ENSP00000376534:p.Ile455Leu		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.I455L	ENST00000392783.2	37	c.1363	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097495	0.56075	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21	5.87	5.87	0.94306	.	0.000000	0.37483	U	0.002072	D	0.88955	0.6578	L	0.51422	1.61	0.34464	D	0.702038	P;B;B;B;B	0.44090	0.826;0.194;0.194;0.194;0.123	P;B;B;B;B	0.57009	0.811;0.107;0.107;0.107;0.05	D	0.89999	0.4113	10	0.25106	T	0.35	-15.1724	11.3742	0.49717	0.1351:0.0:0.0:0.8649	.	455;259;453;453;455	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	L	453;455;455;453;392	ENSP00000376533:I453L;ENSP00000376534:I455L;ENSP00000348087:I455L;ENSP00000339670:I453L	ENSP00000339670:I453L	I	-	1	0	BAZ2B	159998051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.640000	0.54350	2.248000	0.74166	0.533000	0.62120	ATT	BAZ2B	-	NULL	ENSG00000123636		0.368	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0	65	0	T			160289805	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	26.39	53	19	SNP	1.000	G	G	160289805	T	G	160289805	3	3	10	1	0	0	0	0	1	0	0	0	1333	1406	49	4	5259	4	BAZ2B	2	160289805	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	18682015	160289805	82909568	33	2654											
SLC4A10	57282	genome.wustl.edu	37	chr2	162757512	162757512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggacctgaactccagcGaactggaaggttagtgaaaa	14	8	12	7	1	0	2	0	2	0	0	1	5	1	4	2	3	3	1	2	3	7	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:162757512G>T	ENST00000446997.1	+	12	1526	c.1433G>T	c.(1432-1434)cGa>cTa	p.R478L	SLC4A10_ENST00000375514.5_Missense_Mutation_p.R459L|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R478L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R448L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R448L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	478					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.R448Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GAACTCCAGCGAACTGGAAGG	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											47	53	51					2																	162757512		1935	4123	6058	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1433G>T	2.37:g.162757512G>T	ENSP00000393066:p.Arg478Leu		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R478L	ENST00000446997.1	37	c.1433	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558138	0.86231	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.27	5.27	0.74061	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.67145	0.988;0.996;0.988;0.979	D;D;D;P	0.68621	0.951;0.959;0.951;0.869	D	0.93704	0.7018	10	0.87932	D	0	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	459;478;448;478	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	L	459;448;448;447;478;478;477	ENSP00000364664:R459L;ENSP00000395797:R448L;ENSP00000272716:R448L;ENSP00000393066:R478L;ENSP00000404486:R478L	ENSP00000272716:R448L	R	+	2	0	SLC4A10	162465758	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.628000	0.89032	0.655000	0.94253	CGA	SLC4A10	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.453	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1		0	44	0	G	NM_022058		162757512	1			no_errors	ENST00000446997	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	162757512	G	T	162757512	3	4	10	1	0	0	0	0	1	0	0	0	14696	1058	37	2	1564	2	SLC4A10	2	162757512	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	2467707	162757512	80441861	34	2655											
CYBRD1	79901	genome.wustl.edu	37	chr2	172409989	172409989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcacttatgggattgaCagagaaactgattttttccc	13	12	8	8	0	0	3	0	2	0	1	1	5	1	4	1	1	3	1	1	1	3	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:172409989C>T	ENST00000321348.4	+	3	734	c.536C>T	c.(535-537)aCa>aTa	p.T179I	CYBRD1_ENST00000375252.3_Silent_p.D109D|CYBRD1_ENST00000409484.1_Missense_Mutation_p.T121I	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	179	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						ATGGGATTGACAGAGAAACTG	0.368																																																	0													100	88	92					2																	172409989		2203	4300	6503	SO:0001583	missense	0			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"Cytochrome b genes"	20797	protein-coding gene	gene with protein product	"ferric-chelate reductase 3", "cytochrome b561 family, member A2"	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.536C>T	2.37:g.172409989C>T	ENSP00000319141:p.Thr179Ile		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.T179I	ENST00000321348.4	37	c.536	CCDS2244.1	2	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859583	0.71834	.	.	ENSG00000071967	ENST00000409484;ENST00000321348;ENST00000445146	T;T;T	0.78816	-1.21;-0.98;-0.98	5.78	5.78	0.91487	Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (1);	0.000000	0.85682	D	0.000000	D	0.89210	0.6650	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89387	0.3686	9	0.62326	D	0.03	-19.2304	19.6088	0.95594	0.0:1.0:0.0:0.0	.	179	Q53TN4	CYBR1_HUMAN	I	121;179;140	ENSP00000386739:T121I;ENSP00000319141:T179I;ENSP00000402242:T140I	ENSP00000319141:T179I	T	+	2	0	CYBRD1	172118235	1.000000	0.71417	0.990000	0.47175	0.377000	0.30045	6.625000	0.74248	2.734000	0.93682	0.563000	0.77884	ACA	CYBRD1	-	pfam_Cyt_b561_euk,pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000071967		0.368	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	HGNC	protein_coding	OTTHUMT00000255344.2	-	0	59	0	C	NM_024843		172409989	1	tier1	-	no_errors	ENST00000321348	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	172409989	C	T	172409989	3	4	10	1	0	0	0	0	1	0	0	0	4143	478	17	3	546	3	CYBRD1	2	172409989	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	9652477	172409989	70789384	35	2656											
TTN	7273	genome.wustl.edu	37	chr2	179469607	179469607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcagtaacagcaagatttCttggtggggatgggcggtct	8	12	15	6	1	3	1	1	0	2	1	3	2	3	2	0	5	2	2	0	5	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:179469607C>T	ENST00000591111.1	-	231	49510	c.49286G>A	c.(49285-49287)aGa>aAa	p.R16429K	TTN_ENST00000342175.6_Missense_Mutation_p.R9197K|TTN_ENST00000589042.1_Missense_Mutation_p.R18070K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9130K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9005K|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15502K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16429	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAAGATTTCTTGGTGGGGA	0.418																																																	0													113	104	107					2																	179469607		1892	4129	6021	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49286G>A	2.37:g.179469607C>T	ENSP00000465570:p.Arg16429Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R15502K	ENST00000591111.1	37	c.46505		2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164781	0.57476	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.74	5.74	0.90152	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68265	0.2982	L	0.41961	1.31	0.58432	D	0.999996	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.68534	-0.5383	9	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	9005;9130;9197;16429	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15502;9005;9197;9130;9005	ENSP00000343764:R15502K;ENSP00000434586:R9005K;ENSP00000340554:R9197K;ENSP00000352154:R9130K	ENSP00000340554:R9197K	R	-	2	0	TTN	179177852	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.873000	0.98535	0.563000	0.77884	AGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	62	0	C	NM_133378		179469607	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	31.65	54	25	SNP	1.000	T	T	179469607	C	T	179469607	3	4	10	1	0	0	0	0	1	0	0	0	16784	913	32	3	53812	3	TTN	2	179469607	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	7059618	179469607	63729766	36	2657											
FSIP2	401024	genome.wustl.edu	37	chr2	186673392	186673392	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacagcctttcctaaaaaAgtggctagtttaattattga	15	14	6	6	0	0	1	0	1	0	0	1	1	1	1	2	1	2	2	2	1	8	8			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:186673392A>G	ENST00000424728.1	+	17	19359	c.19359A>G	c.(19357-19359)aaA>aaG	p.K6453K	FSIP2_ENST00000343098.5_Silent_p.K6542K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6453										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCCTAAAAAAGTGGCTAGTT	0.313																																																	0													39	37	38					2																	186673392		1790	4052	5842	SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.19359A>G	2.37:g.186673392A>G			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.K6542	ENST00000424728.1	37	c.19626		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.313	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	71	0	A	NM_173651		186673392	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.918	G	G	186673392	A	G	186673392	2	3	10	1	0	0	0	0	0	0	0	1	6099	69	3	4		4	FSIP2	2	186673392	Silent	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	7203785	186673392	56525981	37	2658											
DNAH7	56171	genome.wustl.edu	37	chr2	196718231	196718232	+	Frame_Shift_Ins	INS	-	-	T																															aactgttcagctcgttctagINSttttttgctgcaaaggtcaa																								rs201663412		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:196718231_196718232insT	ENST00000312428.6	-	46	8716_8717	c.8616_8617insA	c.(8614-8619)aaactafs	p.L2873fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2873	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTCGTTCTAGTTTTTTGCTGC	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8617dupA	2.37:g.196718237_196718237dupT	ENSP00000311273:p.Leu2873fs		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L2872fs	ENST00000312428.6	37	c.8617_8616	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.411	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0	27	0	-	NM_018897		196718232	-1	tier1		no_errors	ENST00000312428	ensembl	human	known	74_37	frame_shift_ins	16.13	26	5	INS	1.000:1.000	T	T	196718232	-	T	196718231	7	5	10	1	0	1	1	0	0	0	0	0	4620	1020	36	0	3537	0	DNAH7	2	196718231	Frame_Shift_Ins	INS	-	TCGA-2H-A9GO-01A-11D-A37C-09	10044839	196718231	46481142	38	2659											
DNAH7	56171	genome.wustl.edu	37	chr2	196723220	196723220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagtaagagtatcaaggGcggccagtgctgactctaat	11	9	13	8	1	2	2	1	1	1	1	2	2	2	2	1	2	2	4	1	2	4	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:196723220G>A	ENST00000312428.6	-	43	8145	c.8045C>T	c.(8044-8046)gCc>gTc	p.A2682V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2682	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTATCAAGGGCGGCCAGTGC	0.458																																																	0													52	49	50					2																	196723220		1962	4155	6117	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8045C>T	2.37:g.196723220G>A	ENSP00000311273:p.Ala2682Val		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.A2682V	ENST00000312428.6	37	c.8045	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128475	0.77549	.	.	ENSG00000118997	ENST00000312428	T	0.80214	-1.35	5.64	5.64	0.86602	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.94311	0.8172	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95624	0.8683	10	0.66056	D	0.02	.	19.4873	0.95035	0.0:0.0:1.0:0.0	.	2682	Q8WXX0	DYH7_HUMAN	V	2682	ENSP00000311273:A2682V	ENSP00000311273:A2682V	A	-	2	0	DNAH7	196431465	1.000000	0.71417	0.946000	0.38457	0.010000	0.07245	9.544000	0.98092	2.937000	0.99478	0.650000	0.86243	GCC	DNAH7	-	NULL	ENSG00000118997		0.458	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	31	0	G	NM_018897		196723220	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	A	A	196723220	G	A	196723220	3	1	10	1	0	0	0	0	1	0	0	0	4620	1203	42	3	4121	3	DNAH7	2	196723220	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	4989	196723220	46476153	39	2660											
AOX1	316	genome.wustl.edu	37	chr2	201476191	201476191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcaagaaatcttggtctCagtgaacatcccctactcaa	12	10	6	13	0	4	2	3	1	2	1	6	2	5	2	3	1	2	0	3	1	5	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:201476191C>T	ENST00000374700.2	+	13	1479	c.1238C>T	c.(1237-1239)tCa>tTa	p.S413L	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	413	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ATCTTGGTCTCAGTGAACATC	0.428																																																	0													141	138	139					2																	201476191		2203	4300	6503	SO:0001583	missense	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1238C>T	2.37:g.201476191C>T	ENSP00000363832:p.Ser413Leu		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.S413L	ENST00000374700.2	37	c.1238	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.288181	0.95517	.	.	ENSG00000138356	ENST00000374700	T	0.26223	1.75	5.67	5.67	0.87782	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.063095	0.64402	D	0.000004	T	0.68311	0.2987	H	0.97874	4.095	0.80722	D	1	D	0.63046	0.992	D	0.73380	0.98	T	0.80854	-0.1196	10	0.87932	D	0	-22.5941	17.9588	0.89078	0.0:1.0:0.0:0.0	.	413	Q06278	ADO_HUMAN	L	413	ENSP00000363832:S413L	ENSP00000363832:S413L	S	+	2	0	AOX1	201184436	1.000000	0.71417	0.971000	0.41717	0.992000	0.81027	6.540000	0.73861	2.667000	0.90743	0.561000	0.74099	TCA	AOX1	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.428	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0	50	0	C	NM_001159		201476191	1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	201476191	C	T	201476191	3	4	10	1	0	0	0	0	1	0	0	0	729	838	29	3	1288	3	AOX1	2	201476191	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	4752971	201476191	41723182	40	2661											
ABCA12	26154	genome.wustl.edu	37	chr2	215848404	215848404	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagctgctttttagtcCagtgaggaactttgatggaa	9	13	13	6	1	0	2	0	2	0	0	1	5	1	5	1	3	3	2	1	3	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:215848404C>T	ENST00000272895.7	-	29	4568	c.4349G>A	c.(4348-4350)tGg>tAg	p.W1450*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.W1132*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1450	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTAGTCCAGTGAGGAAC	0.453																																					Ovarian(66;664 1488 5121 34295)												0													181	163	169					2																	215848404		2203	4300	6503	SO:0001587	stop_gained	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4349G>A	2.37:g.215848404C>T	ENSP00000272895:p.Trp1450*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.W1450*	ENST00000272895.7	37	c.4349	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	45	11.291098	0.99542	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4913	0.99204	0.0:1.0:0.0:0.0	.	.	.	.	X	1450;1132	.	ENSP00000272895:W1450X	W	-	2	0	ABCA12	215556649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.801000	0.85960	2.846000	0.97976	0.603000	0.83216	TGG	ABCA12	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000144452		0.453	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	49	0	C	NM_173076		215848404	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	nonsense	55.36	25	31	SNP	1.000	T	T	215848404	C	T	215848404	4	4	10	1	0	0	0	0	0	1	0	0	30	595	21	3	3538	3	ABCA12	2	215848404	Nonsense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	14372213	215848404	27350969	41	2662											
PAX3	5077	genome.wustl.edu	37	chr2	223066140	223066140	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcacttacgcgatatctGgcttgagataatgaaaggca	13	11	10	7	2	2	2	1	2	1	1	2	4	2	2	0	2	1	3	0	2	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:223066140G>T	ENST00000350526.4	-	0	2079				PAX3_ENST00000336840.6_Missense_Mutation_p.Q399K|PAX3_ENST00000409551.3_Missense_Mutation_p.P480Q|PAX3_ENST00000392069.2_Missense_Mutation_p.P481Q|PAX3_ENST00000392070.2_Missense_Mutation_p.P481Q|PAX3_ENST00000464706.1_5'Flank|PAX3_ENST00000344493.4_Missense_Mutation_p.Q399K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P481Q(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCGATATCTGGCTTGAGATA	0.453			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	lung(1)											87	88	87					2																	223066140		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.*503C>A	2.37:g.223066140G>T			G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.P481Q	ENST00000350526.4	37	c.1442	CCDS42826.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.607733|2.607733	0.46527|0.46527	.|.	.|.	ENSG00000135903|ENSG00000135903	ENST00000392069;ENST00000392070;ENST00000409551|ENST00000344493;ENST00000336840	D;D;D|D;D	0.93763|0.93859	-3.27;-3.27;-3.28|-3.3;-3.29	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	1.842720|.	0.03191|.	N|.	0.173328|.	D|D	0.91057|0.91057	0.7186|0.7186	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|B;B	0.76494|0.27140	0.998;0.999|0.099;0.169	D;D|B;B	0.80764|0.23018	0.987;0.994|0.043;0.043	D|D	0.87097|0.87097	0.2176|0.2176	9|8	0.72032|0.44086	D|T	0.01|0.13	.|.	20.3626|20.3626	0.98863|0.98863	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	480;481|399;399	Q494Z4;G5E9C1|P23760-4;P23760-5	.;.|.;.	Q|K	481;481;480|399	ENSP00000375921:P481Q;ENSP00000375922:P481Q;ENSP00000386750:P480Q|ENSP00000342092:Q399K;ENSP00000338767:Q399K	ENSP00000375921:P481Q|ENSP00000338767:Q399K	P|Q	-|-	2|1	0|0	PAX3|PAX3	222774384|222774384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.479000|7.479000	0.81095|0.81095	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCA|CAG	PAX3	-	NULL	ENSG00000135903		0.453	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	-	0	44	0	G			223066140	-1	tier1	-	no_errors	ENST00000392069	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	223066140	G	T	223066140	1	4	10	0	1	0	0	0	0	0	0	0	11519	1357	47	3		3	PAX3	2	223066140	3'UTR	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	7217736	223066140	20133233	42	2663											
IQCA1	79781	genome.wustl.edu	37	chr2	237246938	237246938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcatcgaagggacgccGtgtggtccccacaatcagaa	11	7	11	12	3	2	1	2	0	0	1	4	3	3	2	3	2	1	1	3	2	3	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr2:237246938G>A	ENST00000409907.3	-	17	2318	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	IQCA1_ENST00000431676.2_Missense_Mutation_p.R641W|IQCA1_ENST00000309507.5_Missense_Mutation_p.R679W	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	682							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AAGGGACGCCGTGTGGTCCCC	0.473																																																	0													104	107	106					2																	237246938		1846	4091	5937	SO:0001583	missense	0			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.2044C>T	2.37:g.237246938G>A	ENSP00000387347:p.Arg682Trp		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.R682W	ENST00000409907.3	37	c.2044	CCDS46549.1	2	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801797	0.50315	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676	D;D;D	0.88818	-2.43;-2.43;-2.43	5.47	1.02	0.19986	ATPase, AAA-type, core (1);	1.200600	0.06006	N	0.648737	D	0.93278	0.7858	M	0.65498	2.005	0.09310	N	1	D;D;D	0.67145	0.977;0.992;0.996	P;P;P	0.58970	0.773;0.849;0.849	D	0.84565	0.0652	10	0.72032	D	0.01	.	16.7669	0.85526	0.0:0.0:0.5127:0.4873	.	641;690;682	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	W	682;690;679;641	ENSP00000387347:R682W;ENSP00000311951:R679W;ENSP00000407213:R641W	ENSP00000311951:R679W	R	-	1	2	IQCA1	236911677	0.000000	0.05858	0.132000	0.22025	0.706000	0.40770	0.092000	0.15066	0.258000	0.21686	-0.188000	0.12872	CGG	IQCA1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase	ENSG00000132321		0.473	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	-	0	73	0	G	NM_024726		237246938	-1	tier1	-	no_errors	ENST00000409907	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.001	A	A	237246938	G	A	237246938	3	1	10	1	0	0	0	0	1	0	0	0	7829	1144	40	1	436	1	IQCA1	2	237246938	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	14180798	237246938	5952435	43	2664											
FANCD2	2177	genome.wustl.edu	37	chr3	10108990	10108990	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgcaaataatcctggaaaAgtacttggcaggtaagagaa	17	9	10	5	0	0	1	0	0	0	1	1	3	1	2	1	3	2	4	1	3	7	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:10108990A>C	ENST00000419585.1	+	26	2644	c.2483A>C	c.(2482-2484)aAg>aCg	p.K828T	FANCD2_ENST00000383807.1_Missense_Mutation_p.K828T|FANCD2_ENST00000383806.1_Missense_Mutation_p.K828T|FANCD2_ENST00000287647.3_Missense_Mutation_p.K828T			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	828					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATCCTGGAAAAGTACTTGGCA	0.433			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													89	76	81					3																	10108990		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2483A>C	3.37:g.10108990A>C	ENSP00000398754:p.Lys828Thr		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.K828T	ENST00000419585.1	37	c.2483	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748801	0.30955	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.44	2.92	0.33932	.	0.294601	0.41001	N	0.000979	T	0.36193	0.0958	L	0.46614	1.455	0.27213	N	0.959867	B;B	0.33826	0.427;0.427	B;B	0.27715	0.082;0.082	T	0.13926	-1.0491	10	0.37606	T	0.19	.	10.6198	0.45474	0.6918:0.3082:0.0:0.0	.	828;828	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	T	828	ENSP00000287647:K828T;ENSP00000373318:K828T;ENSP00000373317:K828T;ENSP00000398754:K828T	ENSP00000287647:K828T	K	+	2	0	FANCD2	10083990	1.000000	0.71417	0.996000	0.52242	0.745000	0.42441	1.831000	0.39141	0.318000	0.23185	0.477000	0.44152	AAG	FANCD2	-	NULL	ENSG00000144554		0.433	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	-	0	33	0	A			10108990	1	tier1	-	no_errors	ENST00000287647	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	C	C	10108990	A	C	10108990	3	2	10	1	0	0	0	0	1	0	0	0	5687	72	3	4	2581	4	FANCD2	3	10108990	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09		10108990	187913440	44	2665											
C3orf39	84892	genome.wustl.edu	37	chr3	43121490	43121490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttgcctggatataggccGactgtccacttctgcttccg	6	12	9	14	2	1	0	0	0	1	0	3	2	3	1	5	2	2	1	5	2	2	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:43121490G>A	ENST00000344697.2	-	2	1779	c.1434C>T	c.(1432-1434)gtC>gtT	p.V478V	POMGNT2_ENST00000441964.1_Silent_p.V478V	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	478					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GATATAGGCCGACTGTCCACT	0.632																																																	0													61	57	59					3																	43121490		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1434C>T	3.37:g.43121490G>A			B3KWC3|Q96SY3	Silent	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.V478	ENST00000344697.2	37	c.1434	CCDS2709.1	3																																																																																			POMGNT2	-	NULL	ENSG00000144647		0.632	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT2	HGNC	protein_coding	OTTHUMT00000256643.1		0	13	0	G	NM_032806		43121490	-1			no_errors	ENST00000344697	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.000	A	A	43121490	G	A	43121490	2	1	10	1	0	0	0	0	0	0	0	1	2236	1045	37	1		1	C3orf39	3	43121490	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	33012500	43121490	154900940	45	2666											
KIF9	64147	genome.wustl.edu	37	chr3	47284565	47284565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcgtaattcctccttcGgggagtctgagggaaggggc	6	10	17	8	2	1	1	0	1	1	0	4	3	3	3	2	6	0	1	2	6	2	4	rs201012739		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:47284565G>A	ENST00000265529.3	-	17	2365	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Intron|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Missense_Mutation_p.P562L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000335044.2_Missense_Mutation_p.P562L			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	562					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCTCCTTCGGGGAGTCTGA	0.498																																					Colon(44;962 1147 15977 24541)												0													94	88	90					3																	47284565		2203	4300	6503	SO:0001583	missense	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1685C>T	3.37:g.47284565G>A	ENSP00000265529:p.Pro562Leu		Q86Z28|Q9H8A4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P562L	ENST00000265529.3	37	c.1685	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567520	0.45694	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000452770	T;T;T	0.54866	0.55;0.55;0.55	5.83	5.83	0.93111	.	0.062566	0.64402	D	0.000006	T	0.50429	0.1615	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	P	0.49361	0.608	T	0.40327	-0.9569	10	0.31617	T	0.26	.	15.6167	0.76773	0.0:0.0:1.0:0.0	.	562	Q9HAQ2	KIF9_HUMAN	L	562	ENSP00000333942:P562L;ENSP00000265529:P562L;ENSP00000391100:P562L	ENSP00000265529:P562L	P	-	2	0	KIF9	47259569	1.000000	0.71417	0.947000	0.38551	0.315000	0.28087	3.800000	0.55537	2.758000	0.94735	0.655000	0.94253	CCG	KIF9	-	NULL	ENSG00000088727		0.498	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	-	0	51	0	G			47284565	-1	tier1	rs201012739	no_errors	ENST00000265529	ensembl	human	known	74_37	missense	41.07	33	23	SNP	0.879	A	A	47284565	G	A	47284565	3	1	10	1	0	0	0	0	1	0	0	0	8337	1116	39	1	711	1	KIF9	3	47284565	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	4163075	47284565	150737865	46	2667											
COL7A1	1294	genome.wustl.edu	37	chr3	48623646	48623646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgcagctgctctgggtccGctccagccattcccaacatc	7	8	9	17	2	1	0	0	0	1	0	5	1	4	0	4	1	4	4	4	1	1	1	rs552219889		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:48623646G>A	ENST00000328333.8	-	27	3691	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A1195V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1195	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGGGTCCGCTCCAGCCAT	0.607													G|||	1	0.000199681	0	0	5008	,	,		18008	0.001		0	False		,,,				2504	0																0													94	107	103					3																	48623646		2203	4300	6503	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3584C>T	3.37:g.48623646G>A	ENSP00000332371:p.Ala1195Val		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.A1195V	ENST00000328333.8	37	c.3584	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	13.86	2.361941	0.41801	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.78003	-1.14;-1.14	4.76	4.76	0.60689	von Willebrand factor, type A (2);	0.353869	0.20385	N	0.093367	D	0.82756	0.5106	L	0.32530	0.975	0.47621	D	0.999475	D	0.89917	1.0	D	0.91635	0.999	D	0.84139	0.0416	10	0.66056	D	0.02	.	16.4849	0.84182	0.0:0.0:1.0:0.0	.	1195	Q02388	CO7A1_HUMAN	V	1195	ENSP00000332371:A1195V;ENSP00000412569:A1195V	ENSP00000332371:A1195V	A	-	2	0	COL7A1	48598650	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	4.898000	0.63238	2.636000	0.89361	0.561000	0.74099	GCG	COL7A1	-	pfam_VWF_A,pfscan_VWF_A	ENSG00000114270		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0	59	0	G	NM_000094		48623646	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	48623646	G	A	48623646	3	1	10	1	0	0	0	0	1	0	0	0	3711	1087	38	1	5618	1	COL7A1	3	48623646	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1339081	48623646	149398784	47	2668											
MST1R	4486	genome.wustl.edu	37	chr3	49935600	49935600	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaagttggagccacacagGgtcagccttgtactgcccct	9	9	11	12	0	1	1	1	0	0	1	1	2	1	2	4	2	4	2	4	2	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:49935600G>A	ENST00000296474.3	-	5	1791	c.1764C>T	c.(1762-1764)acC>acT	p.T588T	MST1R_ENST00000344206.4_Silent_p.T588T|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	588	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCCACACAGGGTCAGCCTTG	0.602																																																	0													91	87	88					3																	49935600		2203	4300	6503	SO:0001819	synonymous_variant	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1764C>T	3.37:g.49935600G>A			B5A944|B5A945|B5A946|B5A947	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.T588	ENST00000296474.3	37	c.1764	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000164078		0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1		0	14	0	G			49935600	-1			no_errors	ENST00000296474	ensembl	human	known	74_37	silent	50.00	3	3	SNP	0.330	A	A	49935600	G	A	49935600	2	1	10	1	0	0	0	0	0	0	0	1	9929	1219	43	3		3	MST1R	3	49935600	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1311954	49935600	148086830	48	2669											
OR5H15	403274	genome.wustl.edu	37	chr3	97887982	97887982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcatccggctattaatcTtgtcatatatagctggtatt	9	17	8	7	1	2	0	1	0	1	0	3	0	3	0	1	2	2	4	1	2	6	8			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:97887982T>G	ENST00000356526.2	+	1	439	c.439T>G	c.(439-441)Ttg>Gtg	p.L147V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCTATTAATCTTGTCATATAT	0.373																																																	0													77	75	76					3																	97887982		2203	4297	6500	SO:0001583	missense	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.439T>G	3.37:g.97887982T>G	ENSP00000373195:p.Leu147Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L147V	ENST00000356526.2	37	c.439	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	0.182	-1.061694	0.01950	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.37584	1.19	2.48	-0.63	0.11530	GPCR, rhodopsin-like superfamily (1);	0.622791	0.13359	N	0.393809	T	0.18964	0.0455	N	0.05031	-0.125	0.09310	N	1	P	0.46142	0.873	P	0.48921	0.595	T	0.11012	-1.0605	10	0.27082	T	0.32	.	3.4393	0.07457	0.21:0.0:0.3985:0.3915	.	147	A6NDH6	O5H15_HUMAN	V	147	ENSP00000373195:L147V	ENSP00000373195:L147V	L	+	1	2	OR5H15	99370672	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.112000	0.10791	0.173000	0.19788	0.155000	0.16302	TTG	OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000233412		0.373	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	-	0	61	0	T			97887982	1	tier1	-	no_errors	ENST00000356526	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.000	G	G	97887982	T	G	97887982	3	3	10	1	0	0	0	0	1	0	0	0	11200	1606	56	4	441	4	OR5H15	3	97887982	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	47952382	97887982	100134448	49	2670											
PLXNA1	5361	genome.wustl.edu	37	chr3	126724929	126724929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcgtgcaggagaccaGcgggtggtgaaactctacct	8	8	14	11	2	1	2	0	1	1	1	2	3	1	2	2	3	5	3	2	3	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:126724929G>T	ENST00000393409.2	+	7	1905	c.1905G>T	c.(1903-1905)caG>caT	p.Q635H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.Q612H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	635					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGAGACCAGCGGGTGGTGA	0.572																																																	0													189	167	174					3																	126724929		2203	4300	6503	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1905G>T	3.37:g.126724929G>T	ENSP00000377061:p.Gln635His			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Q635H	ENST00000393409.2	37	c.1905	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	1.110	-0.658399	0.03454	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.07908	3.15;3.15	3.37	2.47	0.30058	.	1.078970	0.07412	N	0.892532	T	0.04770	0.0129	N	0.11560	0.145	0.36227	D	0.852363	B	0.14438	0.01	B	0.19946	0.027	T	0.30707	-0.9969	10	0.02654	T	1	.	11.1837	0.48644	0.0934:0.0:0.9066:0.0	.	635	Q9UIW2	PLXA1_HUMAN	H	635;612	ENSP00000377061:Q635H;ENSP00000251772:Q612H	ENSP00000251772:Q612H	Q	+	3	2	PLXNA1	128207619	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.150000	0.50662	0.741000	0.32674	0.467000	0.42956	CAG	PLXNA1	-	NULL	ENSG00000114554		0.572	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0	44	0	G	NM_032242		126724929	1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	126724929	G	T	126724929	3	4	10	1	0	0	0	0	1	0	0	0	12158	962	34	3	1931	3	PLXNA1	3	126724929	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	28836947	126724929	71297501	50	2671											
EEFSEC	60678	genome.wustl.edu	37	chr3	128060137	128060137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcacttcagccatgcaagGagaccggctgggcatctgcg	9	7	12	13	2	3	1	2	0	1	1	3	2	3	1	2	3	3	3	2	3	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:128060137G>T	ENST00000254730.6	+	5	902	c.848G>T	c.(847-849)gGa>gTa	p.G283V	EEFSEC_ENST00000483457.1_Missense_Mutation_p.G228V|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	283					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCCATGCAAGGAGACCGGCTG	0.577																																																	0													83	77	79					3																	128060137		2203	4300	6503	SO:0001583	missense	0				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.848G>T	3.37:g.128060137G>T	ENSP00000254730:p.Gly283Val		Q96HZ6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.G283V	ENST00000254730.6	37	c.848	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865663	0.91511	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.71817	-0.6;0.12	5.34	5.34	0.76211	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94784	0.7956	10	0.87932	D	0	-0.5463	19.0252	0.92930	0.0:0.0:1.0:0.0	.	228;283	C9J8T0;P57772	.;SELB_HUMAN	V	283;228	ENSP00000254730:G283V;ENSP00000417660:G228V	ENSP00000254730:G283V	G	+	2	0	EEFSEC	129542827	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.858000	0.99539	2.480000	0.83734	0.591000	0.81541	GGA	EEFSEC	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000132394		0.577	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	HGNC	protein_coding	OTTHUMT00000356738.2	-	0	52	0	G	NM_021937		128060137	1	tier1	-	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	128060137	G	T	128060137	3	4	10	1	0	0	0	0	1	0	0	0	4945	1174	41	3	866	3	EEFSEC	3	128060137	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1335208	128060137	69962293	51	2672											
CLDN18	51208	genome.wustl.edu	37	chr3	137742603	137742603	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcatccgcattggcagCatggaggactctgccaaagc	12	7	11	11	1	1	0	0	0	1	0	2	2	2	2	2	3	4	4	2	3	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:137742603C>T	ENST00000183605.5	+	2	550	c.324C>T	c.(322-324)agC>agT	p.S108S	CLDN18_ENST00000343735.4_Silent_p.S108S	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	108					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCATTGGCAGCATGGAGGACT	0.547																																																	0													116	92	100					3																	137742603		2203	4300	6503	SO:0001819	synonymous_variant	0			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.324C>T	3.37:g.137742603C>T			A5PL21|Q96PH4	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.S108	ENST00000183605.5	37	c.324	CCDS3095.1	3																																																																																			CLDN18	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18	ENSG00000066405		0.547	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	-	0	29	0	C	NM_001002026		137742603	1	tier1	-	no_errors	ENST00000183605	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.994	T	T	137742603	C	T	137742603	2	4	10	1	0	0	0	0	0	0	0	1	3486	709	25	3		3	CLDN18	3	137742603	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	9682466	137742603	60279827	52	2673											
MBNL1	4154	genome.wustl.edu	37	chr3	152132832	152132832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgattcagcagaagaacAtggccatgttggcccagcaa	13	8	10	10	0	1	3	1	1	0	2	1	3	1	3	2	2	3	3	2	2	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:152132832A>C	ENST00000463374.1	+	2	788	c.277A>C	c.(277-279)Atg>Ctg	p.M93L	MBNL1_ENST00000545754.1_Missense_Mutation_p.M93L|MBNL1_ENST00000324210.5_Missense_Mutation_p.M93L|MBNL1_ENST00000492948.1_Missense_Mutation_p.M93L|MBNL1_ENST00000355460.2_Missense_Mutation_p.M93L|MBNL1_ENST00000493459.1_Missense_Mutation_p.M36L|MBNL1_ENST00000282486.6_Missense_Mutation_p.M93L|MBNL1_ENST00000485910.1_Missense_Mutation_p.M93L|MBNL1_ENST00000324196.5_Missense_Mutation_p.M93L|MBNL1_ENST00000498502.1_Missense_Mutation_p.M93L|MBNL1_ENST00000485509.1_Missense_Mutation_p.M93L|MBNL1_ENST00000357472.3_Missense_Mutation_p.M93L|MBNL1_ENST00000282488.7_Missense_Mutation_p.M93L	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	93					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCAGAAGAACATGGCCATGTT	0.463																																																	0													146	131	136					3																	152132832		2203	4300	6503	SO:0001583	missense	0			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.277A>C	3.37:g.152132832A>C	ENSP00000418108:p.Met93Leu		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	smart_Znf_CCCH	p.M93L	ENST00000463374.1	37	c.277	CCDS3165.1	3	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429700	0.83776	.	.	ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000495875;ENST00000493459;ENST00000324210;ENST00000459747;ENST00000460591;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	L	0.48642	1.525	0.53688	D	0.999972	B;B;B;B;B;B;B;B;B	0.31989	0.35;0.029;0.012;0.05;0.036;0.35;0.19;0.151;0.151	B;B;B;B;B;B;B;B;B	0.31946	0.065;0.046;0.029;0.037;0.022;0.094;0.028;0.096;0.138	T	0.09465	-1.0673	10	0.10111	T	0.7	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	93;93;93;93;93;93;36;93;93	C9JP00;E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q86VM6;Q9NR56-2;Q96P92	.;.;.;.;MBNL1_HUMAN;.;.;.;.	L	93;93;93;1;36;93;37;1;93;93;93;93;93;93;93;93;93	ENSP00000282486:M93L;ENSP00000282488:M93L;ENSP00000347637:M93L;ENSP00000419347:M36L;ENSP00000319429:M93L;ENSP00000417169:M37L;ENSP00000420327:M93L;ENSP00000319374:M93L;ENSP00000437491:M93L;ENSP00000350064:M93L;ENSP00000418427:M93L;ENSP00000418108:M93L;ENSP00000417630:M93L;ENSP00000420103:M93L;ENSP00000418876:M93L	ENSP00000282486:M93L	M	+	1	0	MBNL1	153615522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.220000	0.65267	2.317000	0.78254	0.460000	0.39030	ATG	MBNL1	-	NULL	ENSG00000152601		0.463	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	-	0	76	0	A	NM_021038		152132832	1	tier1	-	no_errors	ENST00000282486	ensembl	human	known	74_37	missense	29.41	59	25	SNP	1.000	C	C	152132832	A	C	152132832	3	2	10	1	0	0	0	0	1	0	0	0	9391	217	8	4	283	4	MBNL1	3	152132832	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	14390229	152132832	45889598	53	2674											
SI	6476	genome.wustl.edu	37	chr3	164758861	164758862	+	Frame_Shift_Ins	INS	-	-	A																															accaaaagtgaattctgcccINSaaaaaatgcaggatcctgat																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:164758861_164758862insA	ENST00000264382.3	-	18	2087_2088	c.2025_2026insT	c.(2023-2028)tttgggfs	p.G676fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	676	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GAATTCTGCCCAAAAAATGCAG	0.332										HNSCC(35;0.089)																																							0																																										SO:0001589	frameshift_variant	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2026dupT	3.37:g.164758867_164758867dupA	ENSP00000264382:p.Gly676fs		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Ins	INS	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G675fs	ENST00000264382.3	37	c.2026_2025	CCDS3196.1	3																																																																																			SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.332	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0	27	0	-	NM_001041		164758862	-1	tier1		no_errors	ENST00000264382	ensembl	human	known	74_37	frame_shift_ins	17.86	23	5	INS	1.000:1.000	A	A	164758862	-	A	164758861	7	5	10	1	0	1	1	0	0	0	0	0	14342	594	21	0	3581	0	SI	3	164758861	Frame_Shift_Ins	INS	-	TCGA-2H-A9GO-01A-11D-A37C-09	12626029	164758861	33263569	54	2675											
ZBBX	79740	genome.wustl.edu	37	chr3	167023731	167023731	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcaaaatctgtgtttgaAgtttctgctgttaaaaacac	12	16	7	6	0	3	1	1	1	2	0	3	1	3	1	0	0	2	4	0	0	6	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:167023731A>G	ENST00000392766.2	-	17	1765	c.1425T>C	c.(1423-1425)acT>acC	p.T475T	ZBBX_ENST00000455345.2_Silent_p.T475T|ZBBX_ENST00000392764.1_Silent_p.T446T|ZBBX_ENST00000392767.2_Silent_p.T475T|ZBBX_ENST00000307529.5_Silent_p.T475T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	475						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTGTGTTTGAAGTTTCTGCTG	0.294																																																	0													38	33	35					3																	167023731		1806	4062	5868	SO:0001819	synonymous_variant	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1425T>C	3.37:g.167023731A>G			A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	pfam_Znf_B-box	p.T475	ENST00000392766.2	37	c.1425	CCDS3199.2	3																																																																																			ZBBX	-	NULL	ENSG00000169064		0.294	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	-	0	57	0	A	NM_024687		167023731	-1	tier1	-	no_errors	ENST00000307529	ensembl	human	known	74_37	silent	30.36	39	17	SNP	0.003	G	G	167023731	A	G	167023731	2	3	10	1	0	0	0	0	0	0	0	1	17565	59	3	4		4	ZBBX	3	167023731	Silent	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	2264870	167023731	30998699	55	2676											
NCEH1	57552	genome.wustl.edu	37	chr3	172428853	172428853	+	5'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacctccggcaactttctgCccgcggcagctgctcattca	7	9	9	16	3	3	1	2	0	1	1	4	1	4	1	3	2	4	4	3	2	1	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:172428853C>A	ENST00000475381.1	-	0	155				NCEH1_ENST00000538775.1_Silent_p.G6G|NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Silent_p.G6G			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CAACTTTCTGCCCGCGGCAGC	0.632											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													20	23	22					3																	172428853		2201	4292	6493	SO:0001623	5_prime_UTR_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.-79G>T	3.37:g.172428853C>A		1900	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Silent	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.G6	ENST00000475381.1	37	c.18		3																																																																																			NCEH1	-	NULL	ENSG00000144959		0.632	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3	-	0	41	0	C	NM_020792		172428853	-1	tier1	-	no_errors	ENST00000538775	ensembl	human	known	74_37	silent	28.05	59	23	SNP	0.864	A	A	172428853	C	A	172428853	1	1	10	0	1	0	0	0	0	0	0	0	10254	726	26	3		3	NCEH1	3	172428853	5'UTR	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	5405122	172428853	25593577	56	2677											
EIF4G1	1981	genome.wustl.edu	37	chr3	184041274	184041274	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacagtgttaatgaccGaagatataaaactgaacaaa	18	9	7	7	1	0	3	0	2	0	1	0	4	0	3	2	0	3	1	2	0	7	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:184041274G>T	ENST00000346169.2	+	15	2438	c.2167G>T	c.(2167-2169)Gaa>Taa	p.E723*	SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000414031.1_Nonsense_Mutation_p.E683*|EIF4G1_ENST00000427845.1_Nonsense_Mutation_p.E637*|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Nonsense_Mutation_p.E527*|EIF4G1_ENST00000319274.6_Nonsense_Mutation_p.E723*|EIF4G1_ENST00000382330.3_Nonsense_Mutation_p.E730*|EIF4G1_ENST00000441154.1_Nonsense_Mutation_p.E560*|EIF4G1_ENST00000350481.5_Nonsense_Mutation_p.E559*|EIF4G1_ENST00000424196.1_Nonsense_Mutation_p.E730*|EIF4G1_ENST00000342981.4_Nonsense_Mutation_p.E724*|EIF4G1_ENST00000434061.2_Nonsense_Mutation_p.E528*|EIF4G1_ENST00000392537.2_Nonsense_Mutation_p.E636*|EIF4G1_ENST00000411531.1_Nonsense_Mutation_p.E684*|EIF4G1_ENST00000352767.3_Nonsense_Mutation_p.E730*	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	723	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTTAATGACCGAAGATATAAA	0.542																																																	0													118	129	126					3																	184041274		2203	4300	6503	SO:0001587	stop_gained	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2167G>T	3.37:g.184041274G>T	ENSP00000316879:p.Glu723*		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Nonsense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E730*	ENST00000346169.2	37	c.2188	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.750214	0.97809	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	.	.	.	5.36	5.36	0.76844	.	0.232501	0.43579	D	0.000548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-13.2476	19.097	0.93257	0.0:0.0:1.0:0.0	.	.	.	.	X	723;683;636;724;731;730;664;559;730;637;724;723;730;684;559;560;528;527	.	ENSP00000323737:E723X	E	+	1	0	EIF4G1	185523968	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	7.632000	0.83247	2.500000	0.84329	0.467000	0.42956	GAA	EIF4G1	-	NULL	ENSG00000114867		0.542	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0	26	0	G	NM_182917		184041274	1			no_errors	ENST00000352767	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	184041274	G	T	184041274	4	4	10	1	0	0	0	0	0	1	0	0	5052	1059	37	2	2217	2	EIF4G1	3	184041274	Nonsense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	11612421	184041274	13981156	57	2678											
RNF168	165918	genome.wustl.edu	37	chr3	196199341	196199341	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacccctgatgtgggggcGcacccactttctgttctgcc	4	11	11	15	1	3	1	1	1	2	0	3	1	3	1	4	2	1	2	4	2	0	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr3:196199341G>A	ENST00000318037.3	-	6	1659	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	355					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATGTGGGGGCGCACCCACTTT	0.463																																																	0													158	158	158					3																	196199341		2203	4300	6503	SO:0001819	synonymous_variant	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.1065C>T	3.37:g.196199341G>A			Q8NA67|Q96NS4	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C355	ENST00000318037.3	37	c.1065	CCDS3317.1	3																																																																																			RNF168	-	NULL	ENSG00000163961		0.463	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	-	0	45	0	G	NM_152617		196199341	-1	tier1	-	no_errors	ENST00000318037	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.000	A	A	196199341	G	A	196199341	2	1	10	1	0	0	0	0	0	0	0	1	13504	1079	38	1		1	RNF168	3	196199341	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	12158067	196199341	1823089	58	2679											
HAUS3	79441	genome.wustl.edu	37	chr4	2240640	2240640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaccactggcatattcAataactgggcattctctctt	9	15	5	12	0	3	0	1	0	2	0	4	0	3	0	2	2	2	2	2	2	4	7			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:2240640A>G	ENST00000243706.4	-	3	1269	c.1040T>C	c.(1039-1041)tTg>tCg	p.L347S	POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.L347S|HAUS3_ENST00000443786.2_Missense_Mutation_p.L347S|POLN_ENST00000511885.2_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	347					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGCATATTCAATAACTGGGC	0.333																																																	0													136	142	140					4																	2240640		2202	4300	6502	SO:0001583	missense	0			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.1040T>C	4.37:g.2240640A>G	ENSP00000243706:p.Leu347Ser		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Missense_Mutation	SNP	NULL	p.L347S	ENST00000243706.4	37	c.1040	CCDS33941.1	4	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499413	0.64298	.	.	ENSG00000214367	ENST00000506763;ENST00000243706;ENST00000443786	T;T	0.46063	0.88;0.88	5.87	5.87	0.94306	.	0.099747	0.43747	U	0.000533	T	0.58680	0.2139	M	0.69823	2.125	0.51767	D	0.999932	D;D	0.63880	0.993;0.993	D;D	0.66602	0.945;0.945	T	0.56481	-0.7972	10	0.08599	T	0.76	-0.2149	15.4378	0.75160	1.0:0.0:0.0:0.0	.	347;347	B4DF64;Q68CZ6	.;HAUS3_HUMAN	S	347	ENSP00000243706:L347S;ENSP00000392903:L347S	ENSP00000243706:L347S	L	-	2	0	HAUS3	2210438	0.997000	0.39634	0.991000	0.47740	0.605000	0.37080	6.412000	0.73303	2.242000	0.73789	0.482000	0.46254	TTG	HAUS3	-	NULL	ENSG00000214367		0.333	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1		0	64	0	A	NM_024511		2240640	-1			no_errors	ENST00000243706	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.989	G	G	2240640	A	G	2240640	3	3	10	1	0	0	0	0	1	0	0	0	6994	131	5	4	783	4	HAUS3	4	2240640	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09		2240640	188913636	59	2680											
SLIT2	9353	genome.wustl.edu	37	chr4	20544250	20544250	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagagatgtcacagagttGtaagtagagcttgtctttct	11	13	10	7	0	3	3	1	0	2	3	3	4	3	3	1	0	1	4	1	0	3	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:20544250G>T	ENST00000504154.1	+	21	2528		c.e21+1		SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site|SLIT2_ENST00000509394.2_Splice_Site	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)						apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCACAGAGTTGTAAGTAGAGC	0.383																																																	0													225	221	222					4																	20544250		2203	4300	6503	SO:0001630	splice_region_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2276+1G>T	4.37:g.20544250G>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Splice_Site	SNP	-	e21+1	ENST00000504154.1	37	c.2276+1	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106434	0.77096	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7439	0.96243	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLIT2	20153348	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	.	SLIT2	-	-	ENSG00000145147		0.383	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	45	0	G		Intron	20544250	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	splice_site	39.02	25	16	SNP	1.000	T	T	20544250	G	T	20544250	5	4	10	1	0	0	0	0	0	0	1	0	14785	1391	48	3	2359	3	SLIT2	4	20544250	Splice_Site	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	18303610	20544250	170610026	60	2681											
RELL1	768211	genome.wustl.edu	37	chr4	37640083	37640083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacctttcaggatcataCaggctgttatctgctaccat	10	13	6	12	0	4	0	3	0	1	0	4	1	4	1	2	2	3	3	2	2	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:37640083C>T	ENST00000454158.2	-	4	517	c.429G>A	c.(427-429)ctG>ctA	p.L143L	RELL1_ENST00000314117.4_Silent_p.L143L	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	143						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						CAGGATCATACAGGCTGTTAT	0.383																																																	0													125	126	126					4																	37640083		1913	4127	6040	SO:0001819	synonymous_variant	0			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.429G>A	4.37:g.37640083C>T			Q8NBK1	Silent	SNP	pfam_TNF_rcpt_RELT	p.L143	ENST00000454158.2	37	c.429	CCDS43221.1	4																																																																																			RELL1	-	NULL	ENSG00000181826		0.383	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RELL1	HGNC	protein_coding	OTTHUMT00000360485.1		0	52	0	C	NM_001085400		37640083	-1			no_errors	ENST00000314117	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.013	T	T	37640083	C	T	37640083	2	4	10	1	0	0	0	0	0	0	0	1	13263	465	17	3		3	RELL1	4	37640083	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	17095833	37640083	153514193	61	2682											
SLAIN2	57606	genome.wustl.edu	37	chr4	48422217	48422217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaccagtgaaagcatttaGtaaccatggctctggttctc	11	11	9	10	0	2	1	0	1	2	0	3	1	2	1	2	2	3	5	2	2	4	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:48422217G>A	ENST00000264313.6	+	7	1854	c.1436G>A	c.(1435-1437)aGt>aAt	p.S479N	SLAIN2_ENST00000512093.1_Missense_Mutation_p.S312N	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	479					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						AAAGCATTTAGTAACCATGGC	0.507																																																	0													104	101	102					4																	48422217		1993	4167	6160	SO:0001583	missense	0			BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"KIAA1458"	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.1436G>A	4.37:g.48422217G>A	ENSP00000264313:p.Ser479Asn		A8K4P1|Q8N5R3	Missense_Mutation	SNP	NULL	p.S479N	ENST00000264313.6	37	c.1436	CCDS47051.1	4	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277884	0.23307	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.02	4.17	0.49024	.	0.340549	0.33670	N	0.004664	T	0.46425	0.1392	L	0.40543	1.245	0.40890	D	0.98406	B	0.09022	0.002	B	0.09377	0.004	T	0.50432	-0.8829	9	0.66056	D	0.02	-3.8192	9.4654	0.38809	0.0774:0.1411:0.7815:0.0	.	479	Q9P270	SLAI2_HUMAN	N	479;312	.	ENSP00000264313:S479N	S	+	2	0	SLAIN2	48116974	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	3.337000	0.52120	2.346000	0.79739	0.557000	0.71058	AGT	SLAIN2	-	NULL	ENSG00000109171		0.507	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAIN2	HGNC	protein_coding	OTTHUMT00000365807.4	-	0	94	0	G	NM_020846		48422217	1	tier1	-	no_errors	ENST00000264313	ensembl	human	known	74_37	missense	6.82	82	6	SNP	1.000	A	A	48422217	G	A	48422217	3	1	10	1	0	0	0	0	1	0	0	0	14411	1029	36	3	1462	3	SLAIN2	4	48422217	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	10782134	48422217	142732059	62	2683											
C4orf14	84273	genome.wustl.edu	37	chr4	57834638	57834638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacaatggactgtgttGgcaaaacaatatttacttct	13	14	8	6	0	1	0	0	0	1	0	1	2	1	2	0	3	3	2	0	3	7	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:57834638G>T	ENST00000264230.4	-	4	2796	c.1559C>A	c.(1558-1560)cCa>cAa	p.P520Q		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	520					apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GGACTGTGTTGGCAAAACAAT	0.323																																																	0													63	67	65					4																	57834638		2203	4300	6503	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1559C>A	4.37:g.57834638G>T	ENSP00000264230:p.Pro520Gln		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P520Q	ENST00000264230.4	37	c.1559	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308816	0.81247	.	.	ENSG00000084092	ENST00000264230	T	0.46819	0.86	5.79	5.79	0.91817	.	0.233545	0.42964	D	0.000623	T	0.77877	0.4196	M	0.93808	3.46	0.58432	D	0.999998	D	0.71674	0.998	D	0.71656	0.974	T	0.83220	-0.0069	10	0.87932	D	0	.	19.6339	0.95722	0.0:0.0:1.0:0.0	.	520	Q8NC60	CD014_HUMAN	Q	520	ENSP00000264230:P520Q	ENSP00000264230:P520Q	P	-	2	0	C4orf14	57529395	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.074000	0.76791	2.727000	0.93392	0.563000	0.77884	CCA	NOA1	-	NULL	ENSG00000084092		0.323	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2		0	82	0	G	NM_032313		57834638	-1			no_errors	ENST00000264230	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	57834638	G	T	57834638	3	4	10	1	0	0	0	0	1	0	0	0	2258	1348	47	3	553	3	C4orf14	4	57834638	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	9412421	57834638	133319638	63	2684											
EPHA5	2044	genome.wustl.edu	37	chr4	66467875	66467875	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgcagtcccgcagggtaaAtttgagttctatgaagattc	10	13	11	7	1	1	3	0	2	1	1	3	3	2	3	1	1	1	5	1	1	4	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:66467875A>C	ENST00000273854.3	-	3	994	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V	EPHA5_ENST00000432638.2_Missense_Mutation_p.F132V|EPHA5_ENST00000354839.4_Missense_Mutation_p.F132V|EPHA5_ENST00000511294.1_Missense_Mutation_p.F132V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	132	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CGCAGGGTAAATTTGAGTTCT	0.423										TSP Lung(17;0.13)																																							0													84	88	87					4																	66467875		2203	4300	6503	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.394T>G	4.37:g.66467875A>C	ENSP00000273854:p.Phe132Val		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F132V	ENST00000273854.3	37	c.394	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078604	0.76528	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.67	5.67	0.87782	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000006	T	0.63522	0.2518	H	0.94183	3.505	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.75190	-0.3405	10	0.87932	D	0	.	15.9044	0.79412	1.0:0.0:0.0:0.0	.	132;132;132;132	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	V	132	ENSP00000273854:F132V;ENSP00000389208:F132V;ENSP00000346899:F132V;ENSP00000427638:F132V	ENSP00000273854:F132V	F	-	1	0	EPHA5	66150470	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.339000	0.96797	2.162000	0.67917	0.528000	0.53228	TTT	EPHA5	-	pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom,pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	60	0	A	NM_004439		66467875	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	47.46	31	28	SNP	1.000	C	C	66467875	A	C	66467875	3	2	10	1	0	0	0	0	1	0	0	0	5186	101	4	4	2783	4	EPHA5	4	66467875	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	8633237	66467875	124686401	64	2685											
NPFFR2	10886	genome.wustl.edu	37	chr4	72994561	72994561	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcactaatctcttcatcTtaaacctggccataagtgat	12	13	5	11	0	4	1	2	1	2	0	5	1	4	1	2	1	1	0	2	1	4	4	rs144971184		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:72994561T>G	ENST00000308744.6	+	2	657	c.559T>G	c.(559-561)Tta>Gta	p.L187V	NPFFR2_ENST00000344413.5_Intron|NPFFR2_ENST00000395999.1_Missense_Mutation_p.L88V|NPFFR2_ENST00000358749.3_Missense_Mutation_p.L85V	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	187					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCTCTTCATCTTAAACCTGGC	0.373																																																	0													166	157	160					4																	72994561		2203	4300	6503	SO:0001583	missense	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.559T>G	4.37:g.72994561T>G	ENSP00000307822:p.Leu187Val		Q96RV1|Q9NR49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L187V	ENST00000308744.6	37	c.559	CCDS3551.1	4	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590837	0.46214	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.71698	-0.59;-0.59;-0.59	5.9	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.168986	0.28365	N	0.015615	T	0.68044	0.2958	L	0.47716	1.5	0.53688	D	0.999978	P;P	0.45634	0.83;0.863	P;P	0.54060	0.604;0.741	T	0.61540	-0.7042	10	0.11182	T	0.66	.	8.2352	0.31622	0.0:0.2895:0.0:0.7105	.	88;187	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	V	187;88;85	ENSP00000307822:L187V;ENSP00000379321:L88V;ENSP00000351599:L85V	ENSP00000307822:L187V	L	+	1	2	NPFFR2	73213425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.515000	0.35845	0.505000	0.28104	0.528000	0.53228	TTA	NPFFR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000056291		0.373	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	-	0	49	0	T	NM_004885		72994561	1	tier1	-	no_errors	ENST00000308744	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	G	G	72994561	T	G	72994561	3	3	10	1	0	0	0	0	1	0	0	0	10617	1606	56	4	571	4	NPFFR2	4	72994561	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	6526686	72994561	118159715	65	2686											
TET2	54790	genome.wustl.edu	37	chr4	106157180	106157180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattcccaaactgaaaaacTtatgtccccagtgttgaaac	15	10	6	10	0	0	3	0	2	0	1	2	3	2	3	3	0	3	1	3	0	5	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:106157180T>G	ENST00000540549.1	+	3	2941	c.2081T>G	c.(2080-2082)cTt>cGt	p.L694R	TET2_ENST00000380013.4_Missense_Mutation_p.L694R|TET2_ENST00000545826.1_Missense_Mutation_p.L694R|TET2_ENST00000305737.2_Missense_Mutation_p.L694R|TET2_ENST00000513237.1_Missense_Mutation_p.L715R|TET2_ENST00000413648.2_Missense_Mutation_p.L694R|TET2_ENST00000394764.1_Missense_Mutation_p.L694R			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	694	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F683fs*17(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACTGAAAAACTTATGTCCCCA	0.413			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											87	90	89					4																	106157180		2203	4300	6503	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2081T>G	4.37:g.106157180T>G	ENSP00000442788:p.Leu694Arg		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.L694R	ENST00000540549.1	37	c.2081	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	T	11.58	1.680603	0.29872	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.93	3.8	0.43715	.	.	.	.	.	T	0.15262	0.0368	N	0.24115	0.695	0.25567	N	0.986939	P;P;D	0.58268	0.838;0.838;0.982	P;P;P	0.57911	0.466;0.466;0.829	T	0.17349	-1.0372	9	0.07990	T	0.79	.	2.9786	0.05946	0.0:0.3022:0.0:0.6978	.	715;694;694	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	R	694;694;694;715;694;694;694	ENSP00000306705:L694R;ENSP00000442788:L694R;ENSP00000442867:L694R;ENSP00000425443:L715R;ENSP00000369351:L694R;ENSP00000378245:L694R;ENSP00000391448:L694R	ENSP00000265149:L694R	L	+	2	0	TET2	106376629	0.968000	0.33430	0.902000	0.35471	0.036000	0.12997	1.763000	0.38461	1.854000	0.53819	0.533000	0.62120	CTT	TET2	-	NULL	ENSG00000168769		0.413	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0	64	0	T	NM_017628		106157180	1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.981	G	G	106157180	T	G	106157180	3	3	10	1	0	0	0	0	1	0	0	0	15817	1609	56	4	2083	4	TET2	4	106157180	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	33162619	106157180	84997096	66	2687											
NDST3	9348	genome.wustl.edu	37	chr4	119026181	119026181	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtatttcaggccctgctTgatactcagaatcttttgcg	8	16	8	9	1	3	2	2	1	1	1	3	2	3	2	1	1	3	2	1	1	4	7			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:119026181T>C	ENST00000296499.5	+	3	1393	c.990T>C	c.(988-990)ctT>ctC	p.L330L	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	330	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGGCCCTGCTTGATACTCAGA	0.323																																																	0													115	125	121					4																	119026181		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.990T>C	4.37:g.119026181T>C			B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L330	ENST00000296499.5	37	c.990	CCDS3708.1	4																																																																																			NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.323	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0	89	0	T	NM_004784		119026181	1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	C	C	119026181	T	C	119026181	2	2	10	1	0	0	0	0	0	0	0	1	10296	1799	63	4		4	NDST3	4	119026181	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	12869001	119026181	72128095	67	2688											
PCDH18	54510	genome.wustl.edu	37	chr4	138451482	138451482	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccctttgggaatggtgatTtctgccgtattattacgcaa	8	14	10	9	2	1	1	0	1	1	0	1	2	1	2	3	2	2	2	3	2	5	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr4:138451482T>G	ENST00000344876.4	-	1	2147	c.1761A>C	c.(1759-1761)gaA>gaC	p.E587D	PCDH18_ENST00000412923.2_Missense_Mutation_p.E587D|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E367D|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAATGGTGATTTCTGCCGTAT	0.463																																																	0													209	195	200					4																	138451482		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1761A>C	4.37:g.138451482T>G	ENSP00000355082:p.Glu587Asp		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E587D	ENST00000344876.4	37	c.1761	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	T	13.18	2.158773	0.38119	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.60171	0.21;0.21;0.21	5.93	-4.9	0.03094	Cadherin (2);Cadherin-like (1);	0.152178	0.29876	N	0.010965	T	0.39989	0.1099	L	0.51422	1.61	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.12837	0.002;0.004;0.008	T	0.03717	-1.1010	10	0.24483	T	0.36	.	6.4201	0.21738	0.0:0.2418:0.3273:0.4309	.	367;587;587	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	D	587;587;367	ENSP00000355082:E587D;ENSP00000390688:E587D;ENSP00000425903:E367D	ENSP00000355082:E587D	E	-	3	2	PCDH18	138670932	0.915000	0.31059	0.907000	0.35723	0.918000	0.54935	-0.024000	0.12435	-0.689000	0.05149	0.460000	0.39030	GAA	PCDH18	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000189184		0.463	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	24	0	T	NM_019035		138451482	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.862	G	G	138451482	T	G	138451482	3	3	10	1	0	0	0	0	1	0	0	0	11552	1838	64	4	1662	4	PCDH18	4	138451482	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	19425301	138451482	52702794	68	2689											
LPCAT1	79888	genome.wustl.edu	37	chr5	1470999	1470999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccggcagacgacagacaggGcaaccacacactctcgcagg	12	2	12	15	3	1	2	0	0	1	2	2	3	1	2	2	3	1	3	2	3	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:1470999G>A	ENST00000283415.3	-	12	1352	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	407	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GACAGACAGGGCAACCACACA	0.657																																																	0													73	78	77					5																	1470999		2203	4300	6503	SO:0001583	missense	0			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.1220C>T	5.37:g.1470999G>A	ENSP00000283415:p.Ala407Val		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A407V	ENST00000283415.3	37	c.1220	CCDS3864.1	5	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582574	0.86748	.	.	ENSG00000153395	ENST00000283415	T	0.69561	-0.41	4.48	4.48	0.54585	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.84948	2.725	0.80722	D	1	P	0.42649	0.786	P	0.52031	0.688	T	0.83322	-0.0017	10	0.59425	D	0.04	-37.0093	16.3061	0.82849	0.0:0.0:1.0:0.0	.	407	Q8NF37	PCAT1_HUMAN	V	407	ENSP00000283415:A407V	ENSP00000283415:A407V	A	-	2	0	LPCAT1	1523999	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.480000	0.81109	2.198000	0.70561	0.561000	0.74099	GCC	LPCAT1	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000153395		0.657	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1		0	101	0	G	NM_024830		1470999	-1			no_errors	ENST00000283415	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	1470999	G	A	1470999	3	1	10	1	0	0	0	0	1	0	0	0	8945	1203	42	3	396	3	LPCAT1	5	1470999	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		1470999	179444261	69	2690											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5242181	5242181	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagctgctgtttcagggaAggaacccgggtgttgcctgg	6	11	16	8	1	1	0	1	0	0	0	1	2	1	2	2	4	4	5	2	4	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:5242181A>C	ENST00000274181.7	+	17	2677	c.2539A>C	c.(2539-2541)Agg>Cgg	p.R847R		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	847	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTTTCAGGGAAGGAACCCGGG	0.493																																																	0													56	60	59					5																	5242181		1895	4117	6012	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2539A>C	5.37:g.5242181A>C			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R847	ENST00000274181.7	37	c.2539	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_ADAM_spacer1	ENSG00000145536		0.493	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	69	0	A	NM_139056		5242181	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	21.31	48	13	SNP	0.842	C	C	5242181	A	C	5242181	2	2	10	1	0	0	0	0	0	0	0	1	261	63	3	4		4	ADAMTS16	5	5242181	Silent	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	3771182	5242181	175673079	70	2691											
CTNND2	1501	genome.wustl.edu	37	chr5	11732320	11732320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgttggaggtgtttaaGccggggctcagggaactcgt	6	10	15	10	3	1	0	1	0	0	0	3	2	2	2	3	5	2	3	3	5	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:11732320G>A	ENST00000304623.8	-	2	291	c.102C>T	c.(100-102)ggC>ggT	p.G34G	CTNND2_ENST00000359640.2_Silent_p.G34G|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	34					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGTGTTTAAGCCGGGGCTCA	0.498																																																	0													134	133	133					5																	11732320		2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.102C>T	5.37:g.11732320G>A			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G34	ENST00000304623.8	37	c.102	CCDS3881.1	5																																																																																			CTNND2	-	NULL	ENSG00000169862		0.498	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0	80	0	G	NM_001332		11732320	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	silent	8.42	87	8	SNP	0.998	A	A	11732320	G	A	11732320	2	1	10	1	0	0	0	0	0	0	0	1	4029	958	34	3		3	CTNND2	5	11732320	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	6490139	11732320	169182940	71	2692											
DNAH5	1767	genome.wustl.edu	37	chr5	13776619	13776619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaattagggcagggaacTtcaaagctctgtttcgaaat	13	11	10	7	1	2	1	1	1	1	0	3	3	2	2	0	2	2	3	0	2	5	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:13776619T>C	ENST00000265104.4	-	55	9406	c.9302A>G	c.(9301-9303)aAg>aGg	p.K3101R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3101	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCAGGGAACTTCAAAGCTCT	0.483									Kartagener syndrome																																								0													106	100	102					5																	13776619		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9302A>G	5.37:g.13776619T>C	ENSP00000265104:p.Lys3101Arg		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3101R	ENST00000265104.4	37	c.9302	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266537	0.80358	.	.	ENSG00000039139	ENST00000265104	T	0.40756	1.02	5.97	5.97	0.96955	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	M	0.70275	2.135	0.58432	D	0.999998	P	0.41214	0.742	P	0.51453	0.67	T	0.54255	-0.8321	10	0.35671	T	0.21	.	16.4473	0.83942	0.0:0.0:0.0:1.0	.	3101	Q8TE73	DYH5_HUMAN	R	3101	ENSP00000265104:K3101R	ENSP00000265104:K3101R	K	-	2	0	DNAH5	13829619	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.039000	0.64185	2.281000	0.76405	0.533000	0.62120	AAG	DNAH5	-	superfamily_P-loop_NTPase	ENSG00000039139		0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	40	0	T	NM_001369		13776619	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	C	C	13776619	T	C	13776619	3	2	10	1	0	0	0	0	1	0	0	0	4618	1609	56	4	4672	4	DNAH5	5	13776619	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	2044299	13776619	167138641	72	2693											
C5orf23	4883	genome.wustl.edu	37	chr5	32789565	32789565	+	3'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccatcaacttgtcttttcTtgaaccacaggaatggttct	11	14	6	10	0	4	1	1	1	3	0	4	2	4	2	2	2	3	1	2	2	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:32789565T>C	ENST00000265074.8	+	0	5083				AC026703.1_ENST00000326958.1_Silent_p.L20L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTGTCTTTTCTTGAACCACAG	0.413																																																	0													90	92	91					5																	32789565		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3114T>C	5.37:g.32789565T>C			A2RRD1|B4DT84|E7EPG9	Silent	SNP	NULL	p.L20	ENST00000265074.8	37	c.58	CCDS56357.1	5																																																																																			AC026703.1	-	NULL	ENSG00000181495		0.413	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000181495	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000317550.3	-	0	42	0	T	NM_000908		32789565	1	tier1	-	no_errors	ENST00000326958	ensembl	human	novel	74_37	silent	23.91	35	11	SNP	0.000	C	C	32789565	T	C	32789565	1	2	10	0	1	0	0	0	0	0	0	0	2293	1606	56	4		4	C5orf23	5	32789565	3'UTR	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	19012946	32789565	148125695	73	2694											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41042283	41042283	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttggcagcatgctaaggTggttcccaaggctttccaaa	10	11	10	10	0	1	0	0	0	1	0	3	0	3	0	2	4	2	5	2	4	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:41042283T>G	ENST00000399564.4	-	19	2314	c.1864A>C	c.(1864-1866)Acc>Ccc	p.T622P	MROH2B_ENST00000506092.2_Missense_Mutation_p.T177P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	622																	CATGCTAAGGTGGTTCCCAAG	0.438																																																	0													59	52	54					5																	41042283		1829	4089	5918	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1864A>C	5.37:g.41042283T>G	ENSP00000382476:p.Thr622Pro		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T622P	ENST00000399564.4	37	c.1864	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	T	21.1	4.103924	0.76983	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68624	2.82;-0.34	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.52532	D	0.000064	T	0.79793	0.4507	M	0.72118	2.19	0.46044	D	0.998832	D	0.76494	0.999	D	0.85130	0.997	T	0.80498	-0.1356	10	0.49607	T	0.09	.	12.5221	0.56065	0.0:0.0:0.0:1.0	.	622	Q7Z745	HTRB2_HUMAN	P	177;327;622	ENSP00000441504:T177P;ENSP00000382476:T622P	ENSP00000296803:T327P	T	-	1	0	HEATR7B2	41078040	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	2.448000	0.44926	2.216000	0.71823	0.377000	0.23210	ACC	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	71	0	T	NM_173489		41042283	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	61.11	49	77	SNP	1.000	G	G	41042283	T	G	41042283	3	3	10	1	0	0	0	0	1	0	0	0	7062	1696	59	4	2989	4	HEATR7B2	5	41042283	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	8252718	41042283	139872977	74	2695											
VCAN	1462	genome.wustl.edu	37	chr5	82808152	82808152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggggtgagaaccctgtatCgttttgagaaccagacaggc	10	10	13	8	1	0	3	0	2	0	3	1	5	0	3	2	3	2	2	2	3	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:82808152C>T	ENST00000265077.3	+	6	1544	c.979C>T	c.(979-981)Cgt>Tgt	p.R327C	VCAN_ENST00000513984.1_Missense_Mutation_p.R327C|VCAN_ENST00000502527.2_Missense_Mutation_p.R327C|VCAN_ENST00000343200.5_Missense_Mutation_p.R327C|VCAN_ENST00000512590.2_Missense_Mutation_p.R279C|VCAN_ENST00000342785.4_Missense_Mutation_p.R327C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	327	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AACCCTGTATCGTTTTGAGAA	0.507																																																	0													70	72	72					5																	82808152		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.979C>T	5.37:g.82808152C>T	ENSP00000265077:p.Arg327Cys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.R327C	ENST00000265077.3	37	c.979	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795745	0.90453	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000513960;ENST00000513984;ENST00000502527	D;D;D;D;T;T;D	0.88354	-2.28;-2.08;-2.36;-2.37;3.08;2.78;-2.06	5.49	5.49	0.81192	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.53938	D	0.000044	D	0.95069	0.8403	M	0.83012	2.62	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.992;1.0;0.996;0.989	D	0.95297	0.8400	10	0.72032	D	0.01	.	19.353	0.94398	0.0:1.0:0.0:0.0	.	327;327;327;327;327	P13611-3;P13611-4;P13611-2;P13611;Q86W61	.;.;.;CSPG2_HUMAN;.	C	327;327;327;279;327;327;327	ENSP00000265077:R327C;ENSP00000340062:R327C;ENSP00000342768:R327C;ENSP00000425959:R279C;ENSP00000426251:R327C;ENSP00000426715:R327C;ENSP00000421362:R327C	ENSP00000265077:R327C	R	+	1	0	VCAN	82843908	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.783000	0.55409	2.571000	0.86741	0.563000	0.77884	CGT	VCAN	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000038427		0.507	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	60	0	C	NM_004385		82808152	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	T	T	82808152	C	T	82808152	3	4	10	1	0	0	0	0	1	0	0	0	17187	884	31	1	997	1	VCAN	5	82808152	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	41765869	82808152	98107108	75	2696											
COX7C	1350	genome.wustl.edu	37	chr5	85913914	85913914	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggttcacaacctctgtggtCcgtaggagccactatgagga	10	9	12	10	1	2	1	1	1	1	0	3	3	3	3	3	4	2	2	3	4	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:85913914C>T	ENST00000509578.1	+	1	142	c.42C>T	c.(40-42)gtC>gtT	p.V14V	COX7C_ENST00000247655.3_Silent_p.V14V|MIR3607_ENST00000362392.1_RNA|COX7C_ENST00000515763.1_Silent_p.V14V|COX7C_ENST00000513124.1_Intron			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	14					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		CCTCTGTGGTCCGTAGGAGCC	0.607																																																	0													51	57	55					5																	85913914		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.42C>T	5.37:g.85913914C>T			Q6NR81	Silent	SNP	pfam_COX7C/Cox8,superfamily_COX7C/Cox8	p.V14	ENST00000509578.1	37	c.42	CCDS4063.1	5																																																																																			COX7C	-	pfam_COX7C/Cox8	ENSG00000127184		0.607	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	COX7C	HGNC	protein_coding	OTTHUMT00000369746.1	-	0	75	0	C	NM_001867		85913914	1	tier1	-	no_errors	ENST00000247655	ensembl	human	known	74_37	silent	12.28	50	7	SNP	0.999	T	T	85913914	C	T	85913914	2	4	10	1	0	0	0	0	0	0	0	1	3791	842	30	3		3	COX7C	5	85913914	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	3105762	85913914	95001346	76	2697											
FBN2	2201	genome.wustl.edu	37	chr5	127614390	127614390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtactgggcagttccagGaagtgggcaaagctcgcact	9	10	13	9	1	0	0	0	0	0	0	2	1	1	1	1	3	2	6	1	3	3	3	rs1801169		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:127614390G>A	ENST00000508053.1	-	63	8256	c.7282C>T	c.(7282-7284)Cct>Tct	p.P2428S	FBN2_ENST00000262464.4_Missense_Mutation_p.P2428S			P35556	FBN2_HUMAN	fibrillin 2	2428	TB 9.		P -> T (in dbSNP:rs1801169). {ECO:0000269|PubMed:9714438}.		anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCAGTTCCAGGAAGTGGGCAA	0.478																																																	0													110	103	106					5																	127614390		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7282C>T	5.37:g.127614390G>A	ENSP00000424571:p.Pro2428Ser		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P2428S	ENST00000508053.1	37	c.7282	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431956	0.62844	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92699	-3.09;-3.09	4.84	3.96	0.45880	Matrix fibril-associated (3);TGF-beta binding (1);	0.125811	0.36167	N	0.002748	D	0.93671	0.7978	M	0.85630	2.765	0.52099	D	0.99994	P	0.48589	0.912	P	0.52189	0.692	D	0.91436	0.5170	10	0.11485	T	0.65	.	14.0099	0.64490	0.0769:0.0:0.9231:0.0	.	2428	P35556	FBN2_HUMAN	S	2428	ENSP00000262464:P2428S;ENSP00000424571:P2428S	ENSP00000262464:P2428S	P	-	1	0	FBN2	127642289	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.635000	0.83286	2.675000	0.91044	0.650000	0.86243	CCT	FBN2	-	pirsf_FBN,pfam_TB_dom,superfamily_TB_dom	ENSG00000138829		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	38	0	G	NM_001999		127614390	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	A	A	127614390	G	A	127614390	3	1	10	1	0	0	0	0	1	0	0	0	5725	1174	41	3	1492	3	FBN2	5	127614390	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	41700476	127614390	53300870	77	2698											
SLC27A6	28965	genome.wustl.edu	37	chr5	128324368	128324368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgggcttttggttgtaCtgctcatgacattgtttata	6	18	10	7	0	1	1	1	1	0	0	1	1	1	1	1	2	2	5	1	2	3	8			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:128324368C>T	ENST00000262462.4	+	3	1771	c.761C>T	c.(760-762)aCt>aTt	p.T254I	SLC27A6_ENST00000506176.1_Missense_Mutation_p.T254I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.T254I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	254					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTTGGTTGTACTGCTCATGAC	0.423																																																	0													246	240	242					5																	128324368		2203	4300	6503	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.761C>T	5.37:g.128324368C>T	ENSP00000262462:p.Thr254Ile		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T254I	ENST00000262462.4	37	c.761	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137705	0.56936	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.53423	2.69;0.62;0.62;0.62	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.78456	2.415	0.47584	D	0.999468	P	0.43701	0.815	P	0.46419	0.516	T	0.62978	-0.6739	9	.	.	.	-5.272	17.8288	0.88674	0.0:1.0:0.0:0.0	.	254	Q9Y2P4	S27A6_HUMAN	I	73;254;254;254	ENSP00000421759:T73I;ENSP00000262462:T254I;ENSP00000378684:T254I;ENSP00000421024:T254I	.	T	+	2	0	SLC27A6	128352267	0.970000	0.33590	0.579000	0.28588	0.968000	0.65278	2.483000	0.45233	2.640000	0.89533	0.655000	0.94253	ACT	SLC27A6	-	pfam_AMP-dep_Synth/Lig	ENSG00000113396		0.423	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1		0	84	0	C	NM_014031		128324368	1			no_errors	ENST00000262462	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.856	T	T	128324368	C	T	128324368	3	4	10	1	0	0	0	0	1	0	0	0	14575	565	20	3	771	3	SLC27A6	5	128324368	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	709978	128324368	52590892	78	2699											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221171	140221171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattttgtttgtgaattctCggatcgaccgcgaggagctg	7	13	13	8	4	1	1	0	1	1	0	3	5	1	3	1	2	1	3	1	2	1	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:140221171C>T	ENST00000531613.1	+	1	265	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R89W|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAATTCTCGGATCGACCG	0.617																																																	0													66	91	83					5																	140221171		2196	4287	6483	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.265C>T	5.37:g.140221171C>T	ENSP00000434655:p.Arg89Trp		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R89W	ENST00000531613.1	37	c.265	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388178	0.61956	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.36157	1.27;1.27	3.91	3.91	0.45181	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.268702	0.19629	U	0.109735	T	0.60702	0.2289	H	0.98664	4.295	0.21897	N	0.999482	P;D	0.53312	0.943;0.959	P;P	0.48627	0.564;0.584	T	0.65606	-0.6127	10	0.72032	D	0.01	.	8.5195	0.33266	0.2415:0.6189:0.1396:0.0	.	89;89	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	W	89	ENSP00000434655:R89W;ENSP00000367363:R89W	ENSP00000367363:R89W	R	+	1	2	PCDHA8	140201355	0.020000	0.18652	1.000000	0.80357	0.970000	0.65996	1.490000	0.35573	1.900000	0.55004	0.552000	0.68991	CGG	PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204962		0.617	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0	114	0	C	NM_018911		140221171	1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	16.13	104	20	SNP	0.752	T	T	140221171	C	T	140221171	3	4	10	1	0	0	0	0	1	0	0	0	11569	875	31	1	267	1	PCDHA8	5	140221171	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	11896803	140221171	40694089	79	2700											
PCDHA12	56137	genome.wustl.edu	37	chr5	140255345	140255345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgaccgcgagaagctgtgCgggcggagcgcggagtgcag	8	4	19	10	7	0	1	0	0	0	1	1	5	0	3	1	3	4	2	1	3	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:140255345C>T	ENST00000398631.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C96C(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGCTGTGCGGGCGGAGCG	0.562																																					Pancreas(113;759 1672 13322 24104 50104)												1	Substitution - coding silent(1)	endometrium(1)											114	130	124					5																	140255345		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.288C>T	5.37:g.140255345C>T			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.C96	ENST00000398631.2	37	c.288	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.562	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	152	0	C	NM_018903		140255345	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	18.52	110	25	SNP	0.070	T	T	140255345	C	T	140255345	2	4	10	1	0	0	0	0	0	0	0	1	11561	776	27	1		1	PCDHA12	5	140255345	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	34174	140255345	40659915	80	2701											
PCDHB16	57717	genome.wustl.edu	37	chr5	140562569	140562569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctaaaaataccggaaaaCagtcctctaggaactgagtt	16	10	7	8	1	2	1	0	1	2	0	3	3	3	3	2	2	3	1	2	2	8	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:140562569C>T	ENST00000361016.2	+	1	1590	c.435C>T	c.(433-435)aaC>aaT	p.N145N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCGGAAAACAGTCCTCTAG	0.388																																																	0													40	42	41					5																	140562569		2203	4300	6503	SO:0001819	synonymous_variant	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.435C>T	5.37:g.140562569C>T			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N145	ENST00000361016.2	37	c.435	CCDS4251.1	5																																																																																			PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196963		0.388	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0	33	0	C	NM_020957		140562569	1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.000	T	T	140562569	C	T	140562569	2	4	10	1	0	0	0	0	0	0	0	1	11580	477	17	3		3	PCDHB16	5	140562569	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	307224	140562569	40352691	81	2702											
FGF1	2246	genome.wustl.edu	37	chr5	141974991	141974991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcttcttggatatatagGtgttgtaatggttctcctcc	7	17	9	8	0	2	0	0	0	2	0	4	1	3	1	2	3	1	4	2	3	4	8			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:141974991G>A	ENST00000359370.6	-	4	411	c.332C>T	c.(331-333)aCc>aTc	p.T111I	FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000407758.1_3'UTR|AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Missense_Mutation_p.T111I|FGF1_ENST00000494579.1_5'UTR|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000419524.2_Missense_Mutation_p.T111I|FGF1_ENST00000378046.1_Missense_Mutation_p.T111I	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	111					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	GGATATATAGGTGTTGTAATG	0.443																																																	0													133	121	125					5																	141974991		2203	4300	6503	SO:0001583	missense	0			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"Endogenous ligands"	3665	protein-coding gene	gene with protein product	"heparin-binding growth factor 1", "endothelial cell growth factor, alpha", "endothelial cell growth factor, beta"	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.332C>T	5.37:g.141974991G>A	ENSP00000352329:p.Thr111Ile		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.T111I	ENST00000359370.6	37	c.332	CCDS4275.1	5	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659620	0.88154	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.964	D	0.91877	0.5512	10	0.87932	D	0	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	110;111	A8K147;P05230	.;FGF1_HUMAN	I	111	ENSP00000352329:T111I;ENSP00000367285:T111I;ENSP00000338548:T111I;ENSP00000404742:T111I;ENSP00000396195:T111I	ENSP00000338548:T111I	T	-	2	0	FGF1	141955175	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	9.284000	0.95882	2.774000	0.95407	0.650000	0.86243	ACC	FGF1	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000113578		0.443	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF1	HGNC	protein_coding	OTTHUMT00000132735.2	-	0	59	0	G	NM_000800		141974991	-1	tier1	-	no_errors	ENST00000337706	ensembl	human	known	74_37	missense	26.53	36	13	SNP	1.000	A	A	141974991	G	A	141974991	3	1	10	1	0	0	0	0	1	0	0	0	5860	1261	44	3	139	3	FGF1	5	141974991	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1412422	141974991	38940269	82	2703											
FLT4	2324	genome.wustl.edu	37	chr5	180058729	180058729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgatgacgtgtgactcCtccgtgatgttcaaggtcgg	6	12	14	9	4	1	3	1	3	0	0	5	4	3	3	2	2	0	1	2	2	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr5:180058729C>T	ENST00000261937.6	-	2	186	c.108G>A	c.(106-108)gaG>gaA	p.E36E	FLT4_ENST00000502649.1_Silent_p.E36E|FLT4_ENST00000393347.3_Silent_p.E36E|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	36	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTGTGACTCCTCCGTGATGT	0.637																																					Colon(97;1075 1466 27033 27547 35871)												0													104	86	93					5																	180058729		2202	4300	6502	SO:0001819	synonymous_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.108G>A	5.37:g.180058729C>T			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.E36	ENST00000261937.6	37	c.108	CCDS4457.1	5																																																																																			FLT4	-	smart_Ig_sub,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	ENSG00000037280		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0	143	0	C			180058729	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	silent	11.81	111	15	SNP	0.993	T	T	180058729	C	T	180058729	2	4	10	1	0	0	0	0	0	0	0	1	5966	680	24	3		3	FLT4	5	180058729	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	38083738	180058729	856531	83	2704											
HIST1H1D	3007	genome.wustl.edu	37	chr6	26234761	26234761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttgggcttcttggctgccCcagcaggcttcctaggcttg	3	13	12	13	0	2	0	0	0	2	0	3	0	3	0	3	4	2	5	3	4	1	6	rs148166404		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:26234761C>G	ENST00000244534.5	-	1	455	c.401G>C	c.(400-402)gGg>gCg	p.G134A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	134					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGCTGCCCCAGCAGGCTT	0.572																																																	0													54	60	58					6																	26234761		2203	4300	6503	SO:0001583	missense	0			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.401G>C	6.37:g.26234761C>G	ENSP00000244534:p.Gly134Ala		B2R751|Q2M2I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.G134A	ENST00000244534.5	37	c.401	CCDS4597.1	6	.	.	.	.	.	.	.	.	.	.	.	0.017	-1.491054	0.01009	.	.	ENSG00000124575	ENST00000244534	T	0.14266	2.52	5.22	2.24	0.28232	.	0.343062	0.23103	N	0.051900	T	0.01421	0.0046	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47959	-0.9076	10	0.02654	T	1	-7.0711	11.1805	0.48625	0.1268:0.6216:0.2516:0.0	.	134	P16402	H13_HUMAN	A	134	ENSP00000244534:G134A	ENSP00000244534:G134A	G	-	2	0	HIST1H1D	26342740	0.007000	0.16637	0.003000	0.11579	0.000000	0.00434	0.167000	0.16602	0.288000	0.22398	-0.810000	0.03169	GGG	HIST1H1D	-	prints_Histone_H5	ENSG00000124575		0.572	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1D	HGNC	protein_coding	OTTHUMT00000040095.1	-	0	51	0	C	NM_005320		26234761	-1	tier1	-	no_errors	ENST00000244534	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.011	G	G	26234761	C	G	26234761	3	3	10	1	0	0	0	0	1	0	0	0	7152	623	22	5	268	5	HIST1H1D	6	26234761	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09		26234761	144880306	84	2705											
BTN3A1	11119	genome.wustl.edu	37	chr6	26413697	26413697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggctgactgatgggaataAgtatcggactctaactgagc	11	9	14	7	1	1	3	0	3	1	0	2	5	1	5	0	4	2	2	0	4	4	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:26413697A>C	ENST00000289361.6	+	10	1687	c.1319A>C	c.(1318-1320)aAg>aCg	p.K440T	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K388T	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GATGGGAATAAGTATCGGACT	0.478																																																	0													141	143	142					6																	26413697		2203	4300	6503	SO:0001583	missense	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1319A>C	6.37:g.26413697A>C	ENSP00000289361:p.Lys440Thr		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.K440T	ENST00000289361.6	37	c.1319	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	8.273	0.813912	0.16537	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.60548	0.18;0.18	2.31	1.12	0.20585	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.17534	0.0421	N	0.12527	0.23	0.09310	N	1	P;P	0.48589	0.802;0.912	B;B	0.41135	0.265;0.348	T	0.03829	-1.1000	9	0.52906	T	0.07	.	5.6531	0.17627	0.8487:0.0:0.1513:0.0	.	388;440	E9PGB4;O00481	.;BT3A1_HUMAN	T	440;388	ENSP00000289361:K440T;ENSP00000406667:K388T	ENSP00000289361:K440T	K	+	2	0	BTN3A1	26521676	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-5.592000	0.00111	0.309000	0.22966	0.496000	0.49642	AAG	BTN3A1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000026950		0.478	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0	75	0	A			26413697	1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	missense	21.54	51	14	SNP	0.002	C	C	26413697	A	C	26413697	3	2	10	1	0	0	0	0	1	0	0	0	1566	72	3	4	1521	4	BTN3A1	6	26413697	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	178936	26413697	144701370	85	2706											
BAT2	7916	genome.wustl.edu	37	chr6	31601702	31601702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactcctcgggactctgccgGggttagtccctttcccccta	4	11	10	16	2	1	0	0	0	1	0	5	2	4	1	5	3	1	1	5	3	2	3	rs144821309		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:31601702G>A	ENST00000376033.2	+	18	4889	c.4655G>A	c.(4654-4656)gGg>gAg	p.G1552E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1552E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1552	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GACTCTGCCGGGGTTAGTCCC	0.592																																																	0								G	GLU/GLY,GLU/GLY	1,3015		0,1,1507	79	94	89		4655,4655	5.6	1	6	dbSNP_134	89	0,5414		0,0,2707	no	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	98,98	0,1,4214	AA,AG,GG		0.0,0.0332,0.0119	probably-damaging,probably-damaging	1552/2158,1552/2158	31601702	1,8429	1508	2707	4215	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4655G>A	6.37:g.31601702G>A	ENSP00000365201:p.Gly1552Glu		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.G1552E	ENST00000376033.2	37	c.4655	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	9.423	1.083515	0.20309	3.32E-4	0.0	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01647	4.71;4.71	5.6	5.6	0.85130	.	0.217287	0.32918	N	0.005495	T	0.00967	0.0032	N	0.19112	0.55	0.28317	N	0.922396	P	0.43750	0.816	B	0.43916	0.436	T	0.50162	-0.8860	10	0.87932	D	0	-4.8126	12.8107	0.57637	0.0:0.1642:0.8358:0.0	.	1552	P48634	PRC2A_HUMAN	E	1546;1535;1552;1552;777	ENSP00000365175:G1552E;ENSP00000365201:G1552E	ENSP00000365175:G1552E	G	+	2	0	PRRC2A	31709681	1.000000	0.71417	0.961000	0.40146	0.293000	0.27360	2.446000	0.44908	2.639000	0.89480	0.561000	0.74099	GGG	PRRC2A	-	NULL	ENSG00000204469		0.592	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	-	0	71	0	G	NM_080686		31601702	1	tier1	rs144821309	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.977	A	A	31601702	G	A	31601702	3	1	10	1	0	0	0	0	1	0	0	0	1320	1232	43	3	4721	3	BAT2	6	31601702	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	5188005	31601702	139513365	86	2707											
ZBTB12	221527	genome.wustl.edu	37	chr6	31868782	31868782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctgtaaggtagttgaCgatgtccctaacagcgaatt	10	10	13	8	3	0	1	0	1	0	0	1	3	1	1	1	3	2	4	1	3	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:31868782C>T	ENST00000375527.2	-	2	476	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	C2_ENST00000452323.2_5'UTR|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						AGGTAGTTGACGATGTCCCTA	0.577																																																	0													83	77	79					6																	31868782		2203	4300	6503	SO:0001583	missense	0			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.301G>A	6.37:g.31868782C>T	ENSP00000364677:p.Val101Ile		B0UY00|Q5JQ98	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V101I	ENST00000375527.2	37	c.301	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936831	0.92458	.	.	ENSG00000204366	ENST00000375527	T	0.68479	-0.33	4.26	4.26	0.50523	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.076982	0.52532	U	0.000076	T	0.64735	0.2625	L	0.38838	1.175	0.54753	D	0.999986	D	0.76494	0.999	D	0.77004	0.989	T	0.62277	-0.6888	10	0.23302	T	0.38	.	15.4368	0.75152	0.0:1.0:0.0:0.0	.	101	Q9Y330	ZBT12_HUMAN	I	101	ENSP00000364677:V101I	ENSP00000364677:V101I	V	-	1	0	ZBTB12	31976761	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.893000	0.63199	1.913000	0.55393	0.530000	0.56133	GTC	ZBTB12	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000204366		0.577	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2		0	68	0	C	NM_181842		31868782	-1			no_errors	ENST00000375527	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	31868782	C	T	31868782	3	4	10	1	0	0	0	0	1	0	0	0	17573	536	19	1	1082	1	ZBTB12	6	31868782	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	267080	31868782	139246285	87	2708											
MEA1	4201	genome.wustl.edu	37	chr6	42980731	42980731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcatcttcatcttcactCtctaatggtgggtctggcaa	7	15	7	12	0	7	0	3	0	4	0	9	0	8	0	1	3	0	1	1	3	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:42980731C>T	ENST00000244711.3	-	3	493	c.339G>A	c.(337-339)gaG>gaA	p.E113E	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	113					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATCTTCACTCTCTAATGGTG	0.498																																																	0													171	160	164					6																	42980731		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"male-enhanced antigen"	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.339G>A	6.37:g.42980731C>T			Q5TC36|Q9BV01	Silent	SNP	pfam_MEA1	p.E113	ENST00000244711.3	37	c.339	CCDS4879.1	6																																																																																			MEA1	-	pfam_MEA1	ENSG00000124733		0.498	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEA1	HGNC	protein_coding	OTTHUMT00000040574.2	-	0	55	0	C			42980731	-1	tier1	-	no_errors	ENST00000244711	ensembl	human	known	74_37	silent	14.29	42	7	SNP	1.000	T	T	42980731	C	T	42980731	2	4	10	1	0	0	0	0	0	0	0	1	9458	912	32	3		3	MEA1	6	42980731	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	11111949	42980731	128134336	88	2709											
EYS	346007	genome.wustl.edu	37	chr6	66094313	66094313	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattgaaacaccattctTcattcagacagttgatgctg	12	15	6	8	0	3	3	2	2	1	1	3	3	3	3	1	0	2	2	1	0	3	7			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:66094313T>G	ENST00000370621.3	-	8	1791	c.1265A>C	c.(1264-1266)gAa>gCa	p.E422A	EYS_ENST00000393380.2_Missense_Mutation_p.E422A|EYS_ENST00000370616.2_Missense_Mutation_p.E422A|EYS_ENST00000503581.1_Missense_Mutation_p.E422A|EYS_ENST00000342421.5_Missense_Mutation_p.E422A|EYS_ENST00000370618.3_Missense_Mutation_p.E422A			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	422					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACACCATTCTTCATTCAGACA	0.323																																																	0													102	99	100					6																	66094313		2202	4292	6494	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1265A>C	6.37:g.66094313T>G	ENSP00000359655:p.Glu422Ala		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E422A	ENST00000370621.3	37	c.1265		6	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665904	0.67700	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	5.85	5.85	0.93711	.	.	.	.	.	T	0.36054	0.0953	L	0.38175	1.15	0.34707	D	0.727351	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.31503	-0.9941	9	0.52906	T	0.07	.	15.4284	0.75072	0.0:0.0:0.0:1.0	.	422;422;422	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	A	422	ENSP00000424243:E422A;ENSP00000359655:E422A;ENSP00000359650:E422A;ENSP00000377042:E422A;ENSP00000341818:E422A;ENSP00000359652:E422A	ENSP00000341818:E422A	E	-	2	0	EYS	66151034	1.000000	0.71417	0.968000	0.41197	0.981000	0.71138	7.496000	0.81526	2.238000	0.73509	0.533000	0.62120	GAA	EYS	-	NULL	ENSG00000188107		0.323	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	33	0	T	XM_294050		66094313	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	G	G	66094313	T	G	66094313	3	3	10	1	0	0	0	0	1	0	0	0	5348	1783	62	4	8275	4	EYS	6	66094313	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	23113582	66094313	105020754	89	2710											
COL19A1	1310	genome.wustl.edu	37	chr6	70894771	70894771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttttcagggcatcatGggtaagcctggagacagagg	9	11	14	7	0	3	2	2	0	1	2	3	3	3	2	1	4	1	3	1	4	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:70894771G>T	ENST00000322773.4	+	46	2922	c.2820G>T	c.(2818-2820)atG>atT	p.M940I	COL19A1_ENST00000393344.1_Missense_Mutation_p.M562I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	940	Collagen-like 10.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGGCATCATGGGTAAGCCTG	0.403																																																	0													178	168	171					6																	70894771		2203	4300	6503	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2820G>T	6.37:g.70894771G>T	ENSP00000316030:p.Met940Ile		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.M940I	ENST00000322773.4	37	c.2820	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	3.990	-0.004685	0.07773	.	.	ENSG00000082293	ENST00000322773;ENST00000393344;ENST00000393333	D;D	0.82803	-1.65;-1.65	6.17	4.41	0.53225	.	0.254563	0.42420	D	0.000711	T	0.49270	0.1547	N	0.04820	-0.15	0.36213	D	0.851494	B	0.10296	0.003	B	0.13407	0.009	T	0.39583	-0.9607	10	0.33141	T	0.24	.	11.3637	0.49660	0.1388:0.0:0.8612:0.0	.	940	Q14993	COJA1_HUMAN	I	940;562;15	ENSP00000316030:M940I;ENSP00000377013:M562I	ENSP00000316030:M940I	M	+	3	0	COL19A1	70951492	0.998000	0.40836	1.000000	0.80357	0.046000	0.14306	2.027000	0.41078	0.951000	0.37770	-0.136000	0.14681	ATG	COL19A1	-	pfam_Collagen	ENSG00000082293		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	89	0	G			70894771	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.930	T	T	70894771	G	T	70894771	3	4	10	1	0	0	0	0	1	0	0	0	3683	1348	47	3	2998	3	COL19A1	6	70894771	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	4800458	70894771	100220296	90	2711											
RIMS1	22999	genome.wustl.edu	37	chr6	73108708	73108708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggcctgtatagccaagaAgaagacaagaattgcacgaa	16	6	12	7	1	0	4	0	0	0	4	0	5	0	4	2	2	2	2	2	2	8	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:73108708A>G	ENST00000521978.1	+	33	4772	c.4772A>G	c.(4771-4773)aAg>aGg	p.K1591R	RIMS1_ENST00000414192.2_Missense_Mutation_p.K118R|RIMS1_ENST00000538414.1_Missense_Mutation_p.K397R|RIMS1_ENST00000348717.5_Missense_Mutation_p.K1374R|RIMS1_ENST00000523963.1_Missense_Mutation_p.K716R|RIMS1_ENST00000264839.7_Missense_Mutation_p.K1440R|RIMS1_ENST00000517960.1_Missense_Mutation_p.K1374R|RIMS1_ENST00000517827.1_Missense_Mutation_p.K725R|RIMS1_ENST00000491071.2_Missense_Mutation_p.K1380R|RIMS1_ENST00000401910.3_Missense_Mutation_p.K911R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.K1190R|RIMS1_ENST00000518273.1_Missense_Mutation_p.K1270R|RIMS1_ENST00000520567.1_Missense_Mutation_p.K1241R|RIMS1_ENST00000425662.2_Missense_Mutation_p.K659R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1591	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATAGCCAAGAAGAAGACAAGA	0.348																																																	0													110	106	108					6																	73108708		1824	4085	5909	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4772A>G	6.37:g.73108708A>G	ENSP00000428417:p.Lys1591Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1591R	ENST00000521978.1	37	c.4772	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.191708|4.191708	0.78902|0.78902	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000522211	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.69926|.	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44|.	5.37|5.37	5.37|5.37	0.77165|0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.58395|0.58395	0.2119|0.2119	L|L	0.49571|0.49571	1.57|1.57	0.58432|0.58432	D|D	0.999993|0.999993	B;B;B;B;P;D;D;B;B;D;P;D;D|.	0.76494|.	0.246;0.011;0.136;0.052;0.939;0.999;0.976;0.119;0.198;0.976;0.928;0.997;0.971|.	B;B;B;B;P;D;P;B;B;P;D;D;D|.	0.87578|.	0.135;0.11;0.085;0.122;0.836;0.998;0.849;0.042;0.022;0.894;0.932;0.98;0.953|.	T|T	0.58098|0.58098	-0.7696|-0.7696	10|5	0.12430|.	T|.	0.62|.	-30.9307|-30.9307	15.6586|15.6586	0.77162|0.77162	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	215;397;725;716;1440;911;1190;494;1270;1374;667;1380;1591|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	R|G	1380;1440;1380;1374;1270;1190;1440;1374;1270;1241;1190;1591;911;716;659;725;639;397;118|509	ENSP00000430101:K1380R;ENSP00000275037:K1374R;ENSP00000264839:K1440R;ENSP00000429959:K1374R;ENSP00000430408:K1270R;ENSP00000430502:K1241R;ENSP00000430932:K1190R;ENSP00000428417:K1591R;ENSP00000385649:K911R;ENSP00000428328:K716R;ENSP00000411235:K659R;ENSP00000428367:K725R;ENSP00000359448:K639R;ENSP00000439730:K397R;ENSP00000402273:K118R|.	ENSP00000264839:K1440R|.	K|R	+|+	2|1	0|2	RIMS1|RIMS1	73165429|73165429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.212000|9.212000	0.95126|0.95126	2.157000|2.157000	0.67596|0.67596	0.482000|0.482000	0.46254|0.46254	AAG|AGA	RIMS1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000079841		0.348	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	52	0	A			73108708	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	G	G	73108708	A	G	73108708	3	3	10	1	0	0	0	0	1	0	0	0	13412	72	3	4	5065	4	RIMS1	6	73108708	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	2213937	73108708	98006359	91	2712											
HTR1E	3354	genome.wustl.edu	37	chr6	87725772	87725772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagttgtaaacttacacaGactttctgtgtgtctgactt	10	15	8	8	0	2	2	0	1	2	1	2	2	2	2	0	0	2	3	0	0	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:87725772G>T	ENST00000305344.5	+	2	1423	c.720G>T	c.(718-720)caG>caT	p.Q240H		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	240					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AACTTACACAGACTTTCTGTG	0.473																																																	0													144	148	147					6																	87725772		2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.720G>T	6.37:g.87725772G>T	ENSP00000307766:p.Gln240His		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.Q240H	ENST00000305344.5	37	c.720	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	7.407	0.633928	0.14322	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.66995	-0.24;-0.24	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.092832	0.44097	U	0.000488	T	0.39655	0.1086	N	0.20881	0.62	0.35145	D	0.769193	B	0.13145	0.007	B	0.15052	0.012	T	0.34601	-0.9822	10	0.39692	T	0.17	.	16.925	0.86174	0.0:0.0:1.0:0.0	.	240	P28566	5HT1E_HUMAN	H	240	ENSP00000307766:Q240H;ENSP00000358597:Q240H	ENSP00000307766:Q240H	Q	+	3	2	HTR1E	87782491	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	1.934000	0.40163	2.004000	0.58718	0.205000	0.17691	CAG	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000168830		0.473	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2		0	27	0	G	NM_000865		87725772	1			no_errors	ENST00000305344	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	87725772	G	T	87725772	3	4	10	1	0	0	0	0	1	0	0	0	7466	933	33	3	722	3	HTR1E	6	87725772	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	14617064	87725772	83389295	92	2713											
CDK19	23097	genome.wustl.edu	37	chr6	110948026	110948026	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggatattctggcatcttTctaatatcttcccagtcttt	7	18	7	9	0	5	0	0	0	5	0	6	1	6	1	1	2	0	1	1	2	3	7			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:110948026T>G	ENST00000368911.3	-	8	992	c.813A>C	c.(811-813)agA>agC	p.R271S	CDK19_ENST00000413605.2_Missense_Mutation_p.R147S|CDK19_ENST00000323817.3_Missense_Mutation_p.R211S	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTGGCATCTTTCTAATATCTT	0.259																																																	0													126	122	123					6																	110948026		2203	4299	6502	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.813A>C	6.37:g.110948026T>G	ENSP00000357907:p.Arg271Ser		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R271S	ENST00000368911.3	37	c.813	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714411	0.48622	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.03	1.42	0.22433	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.17662	0.0424	N	0.05078	-0.115	0.80722	D	1	B;B	0.33583	0.418;0.201	B;B	0.36418	0.224;0.217	T	0.03619	-1.1019	10	0.11182	T	0.66	-20.9937	8.6492	0.34025	0.0:0.3121:0.0:0.6879	.	147;271	B4DUB1;Q9BWU1	.;CDK19_HUMAN	S	271;211;210;147;211	ENSP00000357907:R271S;ENSP00000317665:R211S;ENSP00000410604:R147S;ENSP00000415621:R211S	ENSP00000317665:R211S	R	-	3	2	CDK19	111054719	0.920000	0.31207	1.000000	0.80357	0.996000	0.88848	-0.023000	0.12456	0.753000	0.32945	0.374000	0.22700	AGA	CDK19	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155111		0.259	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	-	0	39	0	T	NM_015076		110948026	-1	tier1	-	no_errors	ENST00000368911	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.999	G	G	110948026	T	G	110948026	3	3	10	1	0	0	0	0	1	0	0	0	3142	1780	62	4	719	4	CDK19	6	110948026	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	23222254	110948026	60167041	93	2714											
RFX6	222546	genome.wustl.edu	37	chr6	117246753	117246753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccctctgccatccagtCaacctggaggcctaggccct	7	9	8	17	0	3	0	1	0	2	0	5	1	4	1	6	3	2	0	6	3	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:117246753C>A	ENST00000332958.2	+	16	1832	c.1816C>A	c.(1816-1818)Caa>Aaa	p.Q606K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	606					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCATCCAGTCAACCTGGAGG	0.547																																																	0													90	82	85					6																	117246753		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1816C>A	6.37:g.117246753C>A	ENSP00000332208:p.Gln606Lys		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.Q606K	ENST00000332958.2	37	c.1816	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676334	0.47886	.	.	ENSG00000185002	ENST00000332958	T	0.56103	0.48	5.95	5.95	0.96441	.	0.110120	0.64402	D	0.000005	T	0.41396	0.1157	M	0.62723	1.935	0.80722	D	1	B	0.28713	0.22	B	0.21151	0.033	T	0.30179	-0.9987	10	0.39692	T	0.17	-0.3931	20.3719	0.98893	0.0:1.0:0.0:0.0	.	606	Q8HWS3	RFX6_HUMAN	K	606	ENSP00000332208:Q606K	ENSP00000332208:Q606K	Q	+	1	0	RFX6	117353446	1.000000	0.71417	0.872000	0.34217	0.052000	0.14988	7.067000	0.76741	2.826000	0.97356	0.491000	0.48974	CAA	RFX6	-	NULL	ENSG00000185002		0.547	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0	29	0	C	NM_173560		117246753	1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.996	A	A	117246753	C	A	117246753	3	1	10	1	0	0	0	0	1	0	0	0	13312	827	29	3	1878	3	RFX6	6	117246753	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	6298727	117246753	53868314	94	2715											
LAMA2	3908	genome.wustl.edu	37	chr6	129635907	129635907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tattgcttcggcactactacCcagtgctctgaagcaaaagg	11	10	9	11	1	1	1	0	1	1	0	2	1	1	1	1	2	5	4	1	2	6	5	rs141150540		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:129635907C>T	ENST00000421865.2	+	24	3568	c.3519C>T	c.(3517-3519)acC>acT	p.T1173T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1173	Laminin EGF-like 14; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCACTACTACCCAGTGCTCTG	0.517																																																	0								C	,	0,4406		0,0,2203	82	78	79		3519,3519	-1.4	0.8	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LAMA2	NM_000426.3,NM_001079823.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1173/3123,1173/3119	129635907	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3519C>T	6.37:g.129635907C>T			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T1173	ENST00000421865.2	37	c.3519	CCDS5138.1	6																																																																																			LAMA2	-	NULL	ENSG00000196569		0.517	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	45	0	C			129635907	1	tier1	rs141150540	no_errors	ENST00000421865	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.103	T	T	129635907	C	T	129635907	2	4	10	1	0	0	0	0	0	0	0	1	8634	610	22	3		3	LAMA2	6	129635907	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	12389154	129635907	41479160	95	2716											
KIAA1244	57221	genome.wustl.edu	37	chr6	138599613	138599613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcactctcctggctttgaCgggaatagcagcctcagctt	8	11	10	12	1	2	1	1	1	1	0	3	2	2	2	2	2	4	4	2	2	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:138599613C>T	ENST00000251691.4	+	13	2320	c.2154C>T	c.(2152-2154)gaC>gaT	p.D718D		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGGCTTTGACGGGAATAGCA	0.567																																																	0													234	195	208					6																	138599613		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2154C>T	6.37:g.138599613C>T				Silent	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.D718	ENST00000251691.4	37	c.2154	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	ENSG00000112379		0.567	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0	36	0	C	NM_020340		138599613	1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.000	T	T	138599613	C	T	138599613	2	4	10	1	0	0	0	0	0	0	0	1	8244	535	19	1		1	KIAA1244	6	138599613	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	8963706	138599613	32515454	96	2717											
SYNE1	23345	genome.wustl.edu	37	chr6	152702457	152702457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccagcgactccactctgCtgagacggcttgcaccaatc	9	7	10	15	2	1	1	0	1	1	1	3	4	2	1	3	1	4	3	3	1	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr6:152702457C>T	ENST00000367255.5	-	56	9294	c.8693G>A	c.(8692-8694)aGc>aAc	p.S2898N	SYNE1_ENST00000341594.5_Missense_Mutation_p.S2937N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2898N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2905N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2905N|SYNE1-AS1_ENST00000412161.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2898					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCACTCTGCTGAGACGGCT	0.532										HNSCC(10;0.0054)																																							0													125	125	125					6																	152702457		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8693G>A	6.37:g.152702457C>T	ENSP00000356224:p.Ser2898Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S2898N	ENST00000367255.5	37	c.8693	CCDS5236.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.07|15.07	2.722796|2.722796	0.48728|0.48728	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.52754	.|0.74;0.73;0.65;0.73;0.82	6.01|6.01	2.85|2.85	0.33270|0.33270	.|.	.|0.228427	.|0.39615	.|N	.|0.001320	T|T	0.10337|0.10337	0.0253|0.0253	N|N	0.11560|0.11560	0.145|0.145	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.12630	.|0.001;0.004;0.004;0.006	.|B;B;B;B	.|0.13407	.|0.001;0.004;0.004;0.009	T|T	0.08806|0.08806	-1.0704|-1.0704	5|10	.|0.19147	.|T	.|0.46	.|.	7.5052|7.5052	0.27540|0.27540	0.0:0.6438:0.1373:0.2189|0.0:0.6438:0.1373:0.2189	.|.	.|2881;2898;2898;2905	.|B3W695;Q8NF91;E7EQI5;Q8NF91-4	.|.;SYNE1_HUMAN;.;.	T|N	15|2898;2905;2898;2905;2937	.|ENSP00000356224:S2898N;ENSP00000396024:S2905N;ENSP00000265368:S2898N;ENSP00000390975:S2905N;ENSP00000341887:S2937N	.|ENSP00000265368:S2898N	A|S	-|-	1|2	0|0	SYNE1|SYNE1	152744150|152744150	0.012000|0.012000	0.17670|0.17670	0.897000|0.897000	0.35233|0.35233	0.969000|0.969000	0.65631|0.65631	-0.037000|-0.037000	0.12164|0.12164	0.856000|0.856000	0.35383|0.35383	0.650000|0.650000	0.86243|0.86243	GCA|AGC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	25	0	C	NM_182961		152702457	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.783	T	T	152702457	C	T	152702457	3	4	10	1	0	0	0	0	1	0	0	0	15492	797	28	3	18137	3	SYNE1	6	152702457	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	14102844	152702457	18412610	97	2718											
C7orf27	221927	genome.wustl.edu	37	chr7	2579269	2579269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcgtttctgcagcacaggGaacagctctagggtgggaag	10	7	16	8	1	2	0	0	0	2	0	2	2	2	2	0	4	4	4	0	4	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:2579269G>A	ENST00000340611.4	-	12	1762	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	502					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCAGCACAGGGAACAGCTCTA	0.662																																																	0													39	35	36					7																	2579269		2199	4294	6493	SO:0001819	synonymous_variant	0			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"BRCA1-associated protein required for ATM activation protein 1"	614506	"chromosome 7 open reading frame 27"	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1506C>T	7.37:g.2579269G>A			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.F502	ENST00000340611.4	37	c.1506	CCDS5334.1	7																																																																																			BRAT1	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000106009		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2	-	0	67	0	G	NM_152743		2579269	-1	tier1	-	no_errors	ENST00000340611	ensembl	human	known	74_37	silent	6.72	125	9	SNP	0.538	A	A	2579269	G	A	2579269	2	1	10	1	0	0	0	0	0	0	0	1	2389	1165	41	3		3	C7orf27	7	2579269	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		2579269	156559394	98	2719											
RBAK	57786	genome.wustl.edu	37	chr7	5103739	5103739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaagccttagacaatgagGctgtttttattgctcataag	11	14	10	6	0	1	2	1	1	0	1	1	3	1	3	1	2	2	3	1	2	5	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:5103739G>A	ENST00000353796.3	+	6	976	c.652G>A	c.(652-654)Gct>Act	p.A218T	RBAK_ENST00000396912.1_Missense_Mutation_p.A218T|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	218	Required for interaction with RB1.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGACAATGAGGCTGTTTTTAT	0.353																																																	0													42	45	44					7																	5103739		2203	4299	6502	SO:0001583	missense	0			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.652G>A	7.37:g.5103739G>A	ENSP00000275423:p.Ala218Thr		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A218T	ENST00000353796.3	37	c.652	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.557658	0.00910	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.01629	4.72;4.72	3.53	-3.23	0.05109	.	1.106060	0.06891	N	0.804220	T	0.00936	0.0031	N	0.11845	0.185	0.25555	N	0.987043	B	0.30793	0.295	B	0.26310	0.068	T	0.46803	-0.9165	8	.	.	.	.	0.4621	0.00518	0.3848:0.1359:0.2038:0.2755	.	218	Q9NYW8	RBAK_HUMAN	T	218	ENSP00000275423:A218T;ENSP00000380120:A218T	.	A	+	1	0	RBAK	5070265	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.981000	0.03766	-0.781000	0.04548	-0.350000	0.07774	GCT	RBAK	-	NULL	ENSG00000146587		0.353	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	-	0	23	0	G	NM_021163		5103739	1	tier1	-	no_errors	ENST00000353796	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.000	A	A	5103739	G	A	5103739	3	1	10	1	0	0	0	0	1	0	0	0	13145	1203	42	3	666	3	RBAK	7	5103739	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	2524470	5103739	154034924	99	2720											
C7orf16	10842	genome.wustl.edu	37	chr7	31732111	31732111	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagaagacagactggacaAgctagaccctcgttgcagcc	12	6	10	13	1	1	4	1	0	0	4	2	5	1	5	2	1	3	3	2	1	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:31732111A>T	ENST00000342032.3	+	2	684	c.56A>T	c.(55-57)aAg>aTg	p.K19M	PPP1R17_ENST00000409146.3_Missense_Mutation_p.K19M	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	19					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										AGACTGGACAAGCTAGACCCT	0.488																																																	0													114	98	104					7																	31732111		2203	4300	6503	SO:0001583	missense	0			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.56A>T	7.37:g.31732111A>T	ENSP00000340125:p.Lys19Met		B4DE58|Q9UDQ0	Missense_Mutation	SNP	NULL	p.K19M	ENST00000342032.3	37	c.56	CCDS5436.1	7	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988893	0.53934	.	.	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.39592	1.07;1.25	6.16	0.987	0.19790	.	0.491175	0.22859	N	0.054777	T	0.43500	0.1250	L	0.56769	1.78	0.40805	D	0.983375	D;D	0.58268	0.963;0.982	P;P	0.52267	0.661;0.694	T	0.35919	-0.9769	10	0.72032	D	0.01	-4.3733	4.7431	0.13024	0.4776:0.3487:0.0621:0.1116	.	19;19	B4DE58;O96001	.;PPR17_HUMAN	M	19	ENSP00000340125:K19M;ENSP00000386459:K19M	ENSP00000340125:K19M	K	+	2	0	C7orf16	31698636	1.000000	0.71417	0.921000	0.36526	0.730000	0.41778	1.677000	0.37576	-0.052000	0.13311	-0.299000	0.09455	AAG	PPP1R17	-	NULL	ENSG00000106341		0.488	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	-	0	68	0	A	NM_006658		31732111	1	tier1	-	no_errors	ENST00000342032	ensembl	human	known	74_37	missense	18.10	86	19	SNP	0.973	T	T	31732111	A	T	31732111	3	4	10	1	0	0	0	0	1	0	0	0	2385	72	3	5	58	5	C7orf16	7	31732111	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	26628372	31732111	127406552	100	2721											
ELMO1	9844	genome.wustl.edu	37	chr7	37354505	37354505	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgctggagtgcaaaataTtcatggttggcaagagacca	13	9	12	7	0	1	1	1	0	0	1	1	3	1	2	1	3	2	5	1	3	4	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:37354505T>C	ENST00000310758.4	-	4	788	c.141A>G	c.(139-141)gaA>gaG	p.E47E	ELMO1_ENST00000442504.1_Silent_p.E47E|ELMO1_ENST00000448602.1_Silent_p.E47E	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	47					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTGCAAAATATTCATGGTTGG	0.323																																																	0													102	97	99					7																	37354505		2203	4300	6503	SO:0001819	synonymous_variant	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.141A>G	7.37:g.37354505T>C			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E47	ENST00000310758.4	37	c.141	CCDS5449.1	7																																																																																			ELMO1	-	NULL	ENSG00000155849		0.323	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	41	0	T	NM_130442		37354505	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	8.77	52	5	SNP	0.142	C	C	37354505	T	C	37354505	2	2	10	1	0	0	0	0	0	0	0	1	5081	1490	52	4		4	ELMO1	7	37354505	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	5622394	37354505	121784158	101	2722											
SFRP4	6424	genome.wustl.edu	37	chr7	37956032	37956032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccgcgtgatgttccaGggcatgtgccggcacatagg	7	8	15	11	3	0	1	0	1	0	0	2	1	2	1	3	4	1	4	3	4	1	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:37956032G>T	ENST00000436072.2	-	1	485	c.108C>A	c.(106-108)ccC>ccA	p.P36P	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	36	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGATGTTCCAGGGCATGTGCC	0.667																																																	0													130	105	113					7																	37956032		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.108C>A	7.37:g.37956032G>T			B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.P36	ENST00000436072.2	37	c.108	CCDS5453.1	7																																																																																			SFRP4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000106483		0.667	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	-	0	43	0	G	NM_003014		37956032	-1	tier1	-	no_errors	ENST00000436072	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	T	T	37956032	G	T	37956032	2	4	10	1	0	0	0	0	0	0	0	1	14208	987	35	3		3	SFRP4	7	37956032	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	601527	37956032	121182631	102	2723											
TBRG4	9238	genome.wustl.edu	37	chr7	45139959	45139959	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccaccgctttgcgcaTcttgtccttgaggtaggcgc	5	11	11	14	3	2	1	1	1	1	0	3	1	3	1	3	2	2	3	3	2	1	4	rs151054640	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:45139959T>A	ENST00000258770.3	-	11	1982	c.1861A>T	c.(1861-1863)Atg>Ttg	p.M621L	TBRG4_ENST00000395655.4_Missense_Mutation_p.M511L|TBRG4_ENST00000494076.1_Missense_Mutation_p.M621L|TBRG4_ENST00000361278.3_Missense_Mutation_p.M511L	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	621					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GCTTTGCGCATCTTGTCCTTG	0.597																																																	0													122	85	97					7																	45139959		2203	4300	6503	SO:0001583	missense	0			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1861A>T	7.37:g.45139959T>A	ENSP00000258770:p.Met621Leu		A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.M621L	ENST00000258770.3	37	c.1861	CCDS5501.1	7	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246324	0.39697	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076	T;T;T;T	0.10573	3.63;2.86;2.86;3.63	5.25	5.25	0.73442	.	0.184390	0.56097	D	0.000028	T	0.05731	0.0150	N	0.12182	0.205	0.46167	D	0.998906	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.12837	0.001;0.008;0.0	T	0.13282	-1.0515	10	0.02654	T	1	.	13.172	0.59604	0.0:0.0:0.0:1.0	.	632;511;621	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	L	621;511;511;621	ENSP00000258770:M621L;ENSP00000354992:M511L;ENSP00000379016:M511L;ENSP00000420597:M621L	ENSP00000258770:M621L	M	-	1	0	TBRG4	45106484	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	3.596000	0.54024	2.205000	0.71048	0.533000	0.62120	ATG	TBRG4	-	NULL	ENSG00000136270		0.597	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	HGNC	protein_coding	OTTHUMT00000251351.1	-	0	71	0	T	NM_030900		45139959	-1	tier1	-	no_errors	ENST00000258770	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A	A	45139959	T	A	45139959	3	1	10	1	0	0	0	0	1	0	0	0	15696	1435	50	5	38	5	TBRG4	7	45139959	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	7183927	45139959	113998704	103	2724											
ADCY1	107	genome.wustl.edu	37	chr7	45743226	45743226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actaccagtcctactcccagGtgggcgtcatgtttgcctcc	6	11	9	15	1	1	0	1	0	0	0	4	0	4	0	5	2	3	1	5	2	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:45743226G>T	ENST00000297323.7	+	16	2621	c.2599G>T	c.(2599-2601)Gtg>Ttg	p.V867L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	867					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTACTCCCAGGTGGGCGTCAT	0.567																																																	0													135	115	122					7																	45743226		2203	4300	6503	SO:0001583	missense	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2599G>T	7.37:g.45743226G>T	ENSP00000297323:p.Val867Leu		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V867L	ENST00000297323.7	37	c.2599	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520603	0.64747	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	D	0.85629	-2.01	4.65	3.77	0.43336	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.056755	0.64402	D	0.000001	D	0.92909	0.7744	H	0.98849	4.35	0.53688	D	0.999979	P	0.41848	0.763	P	0.48400	0.576	D	0.93802	0.7102	10	0.72032	D	0.01	.	10.6866	0.45846	0.0941:0.0:0.9059:0.0	.	867	Q08828	ADCY1_HUMAN	L	867	ENSP00000297323:V867L	ENSP00000297323:V867L	V	+	1	0	ADCY1	45709751	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.053000	0.93860	1.308000	0.44962	0.455000	0.32223	GTG	ADCY1	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000164742		0.567	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2		0	63	0	G	NM_021116		45743226	1			no_errors	ENST00000297323	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	45743226	G	T	45743226	3	4	10	1	0	0	0	0	1	0	0	0	292	1261	44	3	2661	3	ADCY1	7	45743226	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	603267	45743226	113395437	104	2725											
ZNF716	441234	genome.wustl.edu	37	chr7	57529385	57529385	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaactcatactggagagaaAccctacaaatgtgaagaatg	18	7	9	7	0	1	4	1	1	0	3	1	6	1	5	1	1	4	0	1	1	7	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:57529385A>C	ENST00000420713.1	+	4	1330	c.1218A>C	c.(1216-1218)aaA>aaC	p.K406N		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CTGGAGAGAAACCCTACAAAT	0.398																																																	0													28	29	29					7																	57529385		692	1591	2283	SO:0001583	missense	0			AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"Zinc fingers, C2H2-type", "-"	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1218A>C	7.37:g.57529385A>C	ENSP00000394248:p.Lys406Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K406N	ENST00000420713.1	37	c.1218	CCDS55112.1	7	.	.	.	.	.	.	.	.	.	.	A	7.613	0.675127	0.14841	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.26067	1.76	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26521	0.0648	M	0.85777	2.775	0.27028	N	0.964305	P	0.42973	0.796	B	0.35312	0.2	T	0.26189	-1.0110	9	0.66056	D	0.02	.	4.8229	0.13400	0.9998:0.0:2.0E-4:0.0	.	394	A6NP11	ZN716_HUMAN	N	406;394	ENSP00000394248:K406N	ENSP00000387687:K394N	K	+	3	2	ZNF716	57533327	0.000000	0.05858	0.066000	0.19879	0.067000	0.16453	-0.307000	0.08167	0.257000	0.21650	0.254000	0.18369	AAA	ZNF716	-	pfscan_Znf_C2H2	ENSG00000182111		0.398	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF716	HGNC	protein_coding	OTTHUMT00000345309.1	-	0	40	0	A	NM_001159279		57529385	1	tier1	-	no_errors	ENST00000420713	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.995	C	C	57529385	A	C	57529385	3	2	10	1	0	0	0	0	1	0	0	0	18167	40	2	4	1232	4	ZNF716	7	57529385	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	11786159	57529385	101609278	105	2726											
GTF2IRD1	9569	genome.wustl.edu	37	chr7	73971992	73971992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgacgcgaggctctcaCggatcgacatcgccaacaca	12	7	9	13	5	1	1	1	1	1	0	4	4	1	2	1	2	1	1	1	2	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:73971992C>T	ENST00000265755.3	+	20	2485	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.R683W|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.R715W|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.R683W|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	698					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R698W(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAGGCTCTCACGGATCGACAT	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											61	55	57					7																	73971992		2203	4300	6503	SO:0001583	missense	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2092C>T	7.37:g.73971992C>T	ENSP00000265755:p.Arg698Trp		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.R698W	ENST00000265755.3	37	c.2092	CCDS5571.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.997651|2.997651	0.54147|0.54147	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977|ENST00000470715	T;T;T;T|.	0.39787|.	1.06;1.06;1.08;1.06|.	4.2|4.2	3.29|3.29	0.37713|0.37713	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.57636|0.57636	0.2067|0.2067	L|L	0.46157|0.46157	1.445|1.445	0.51767|0.51767	D|D	0.99993|0.99993	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.988;0.982;1.0;1.0|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.87932|.	D|.	0|.	-14.676|-14.676	11.2995|11.2995	0.49298|0.49298	0.348:0.652:0.0:0.0|0.348:0.652:0.0:0.0	.|.	715;683;698;683|.	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2|.	.;.;GT2D1_HUMAN;.|.	W|M	698;715;683;683|60	ENSP00000265755:R698W;ENSP00000397566:R715W;ENSP00000408477:R683W;ENSP00000418383:R683W|.	ENSP00000265755:R698W|.	R|T	+|+	1|2	2|0	GTF2IRD1|GTF2IRD1	73609928|73609928	0.336000|0.336000	0.24757|0.24757	0.526000|0.526000	0.27913|0.27913	0.476000|0.476000	0.33039|0.33039	0.789000|0.789000	0.26886|0.26886	0.855000|0.855000	0.35359|0.35359	0.655000|0.655000	0.94253|0.94253	CGG|ACG	GTF2IRD1	-	superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000006704		0.488	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2		0	41	0	C	NM_016328		73971992	1			no_errors	ENST00000265755	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.865	T	T	73971992	C	T	73971992	3	4	10	1	0	0	0	0	1	0	0	0	6895	527	19	1	2166	1	GTF2IRD1	7	73971992	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	16442607	73971992	85166671	106	2727											
ZNF804B	219578	genome.wustl.edu	37	chr7	88963087	88963087	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaactgcagataagtgcaAgtgctgcaggtttgcaaata	15	9	10	7	0	0	1	0	0	0	1	0	1	0	1	0	1	6	6	0	1	5	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:88963087A>T	ENST00000333190.4	+	4	1400	c.791A>T	c.(790-792)aAg>aTg	p.K264M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	264							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GATAAGTGCAAGTGCTGCAGG	0.373										HNSCC(36;0.09)																																							0													73	69	70					7																	88963087		2203	4299	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.791A>T	7.37:g.88963087A>T	ENSP00000329638:p.Lys264Met		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K264M	ENST00000333190.4	37	c.791	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	6.227	0.410089	0.11812	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	5.04	2.65	0.31530	.	0.426528	0.22226	N	0.062900	T	0.03915	0.0110	L	0.38838	1.175	0.09310	N	1	P	0.35077	0.483	B	0.21546	0.035	T	0.41360	-0.9513	10	0.49607	T	0.09	-1.1353	3.0197	0.06071	0.6327:0.1438:0.0746:0.1489	.	264	A4D1E1	Z804B_HUMAN	M	264	ENSP00000329638:K264M	ENSP00000329638:K264M	K	+	2	0	ZNF804B	88801023	0.025000	0.19082	0.823000	0.32752	0.663000	0.39108	0.430000	0.21428	0.397000	0.25310	0.533000	0.62120	AAG	ZNF804B	-	NULL	ENSG00000182348		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	23	0	A	NM_181646		88963087	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	74.55	14	41	SNP	0.009	T	T	88963087	A	T	88963087	3	4	10	1	0	0	0	0	1	0	0	0	18219	72	3	5	805	5	ZNF804B	7	88963087	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	14991095	88963087	70175576	107	2728											
MUC17	140453	genome.wustl.edu	37	chr7	100686089	100686089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcatctcctacaactCttgaaggcaccaccaccatg	11	9	6	15	0	3	1	1	1	2	0	4	1	3	1	4	1	2	3	4	1	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:100686089C>A	ENST00000306151.4	+	3	11456	c.11392C>A	c.(11392-11394)Ctt>Att	p.L3798I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3798	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTACAACTCTTGAAGGCAC	0.468																																																	0													111	101	105					7																	100686089		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11392C>A	7.37:g.100686089C>A	ENSP00000302716:p.Leu3798Ile		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.L3798I	ENST00000306151.4	37	c.11392	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	7.068	0.567711	0.13560	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.96	-3.91	0.04168	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	P	0.52061	0.95	P	0.52909	0.713	T	0.20773	-1.0265	9	0.36615	T	0.2	.	0.5579	0.00674	0.2907:0.2676:0.2718:0.1699	.	3798	Q685J3	MUC17_HUMAN	I	3798	ENSP00000302716:L3798I	ENSP00000302716:L3798I	L	+	1	0	MUC17	100472809	0.000000	0.05858	0.000000	0.03702	0.204000	0.24138	-3.130000	0.00591	-1.863000	0.01150	0.187000	0.17357	CTT	MUC17	-	NULL	ENSG00000169876		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	38	0	C	NM_001040105		100686089	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.000	A	A	100686089	C	A	100686089	3	1	10	1	0	0	0	0	1	0	0	0	10012	913	32	3	11402	3	MUC17	7	100686089	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	11723002	100686089	58452574	108	2729											
COG5	10466	genome.wustl.edu	37	chr7	106888946	106888947	+	Splice_Site	INS	-	-	A																															cataagagcatgaatagcctINSaaaaaaaaaaaagaaagaaa																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:106888946_106888947insA	ENST00000347053.3	-	16	1830		c.e16-2		COG5_ENST00000393603.2_Splice_Site|COG5_ENST00000297135.3_Splice_Site	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATGAATAGCCTaaaaaaaaaaa	0.351																																																	0																																										SO:0001630	splice_region_variant	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1780-2->T	7.37:g.106888957_106888957dupA			A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Splice_Site	INS	-	e17-2	ENST00000347053.3	37	c.1843-3_1843-2	CCDS5743.1	7																																																																																			COG5	-	-	ENSG00000164597		0.351	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4		0	27	0	-		Intron	106888947	-1	tier1		no_errors	ENST00000297135	ensembl	human	known	74_37	splice_site_ins	10.00	27	3	INS	0.987:0.017	A	A	106888947	-	A	106888946	8	5	10	1	0	1	1	0	0	0	1	0	3668	1536	53	0	769	0	COG5	7	106888946	Splice_Site	INS	-	TCGA-2H-A9GO-01A-11D-A37C-09	6202857	106888946	52249717	109	2730											
C7orf45	136263	genome.wustl.edu	37	chr7	129847882	129847882	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagggagcttcctgctttgGtattttgttatcgtatttgt	6	20	10	5	1	0	0	0	0	0	0	2	1	1	1	1	2	2	5	1	2	4	9			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:129847882G>A	ENST00000297819.3	+	1	183	c.132G>A	c.(130-132)tgG>tgA	p.W44*	TMEM209_ENST00000473456.1_5'Flank|TMEM209_ENST00000397622.2_5'Flank|TMEM209_ENST00000336804.8_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	44						integral component of membrane (GO:0016021)											TCCTGCTTTGGTATTTTGTTA	0.388																																																	0													249	243	245					7																	129847882		2203	4300	6503	SO:0001587	stop_gained	0			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.132G>A	7.37:g.129847882G>A	ENSP00000297819:p.Trp44*			Nonsense_Mutation	SNP	NULL	p.W44*	ENST00000297819.3	37	c.132	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.907176	0.97093	.	.	ENSG00000165120	ENST00000297819	.	.	.	5.84	5.84	0.93424	.	0.105638	0.43747	D	0.000540	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3586	15.638	0.76970	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000297819:W44X	W	+	3	0	C7orf45	129635118	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.762000	0.38451	2.779000	0.95612	0.655000	0.94253	TGG	SSMEM1	-	NULL	ENSG00000165120		0.388	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSMEM1	HGNC	protein_coding	OTTHUMT00000349768.1	-	0	47	0	G	NM_145268		129847882	1	tier1	-	no_errors	ENST00000297819	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	A	A	129847882	G	A	129847882	4	1	10	1	0	0	0	0	0	1	0	0	2402	1270	44	3	134	3	C7orf45	7	129847882	Nonsense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	22958936	129847882	29290781	110	2731											
CPA4	51200	genome.wustl.edu	37	chr7	129933071	129933071	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgggtccagcatctgtggCcaagaaaaattttttgggta	11	13	11	6	0	1	1	0	0	1	1	2	1	2	1	2	3	1	2	2	3	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:129933071C>A	ENST00000222482.4	+	1	79	c.51C>A	c.(49-51)ggC>ggA	p.G17G	CPA4_ENST00000493259.1_5'UTR|CPA4_ENST00000445470.2_Silent_p.G17G	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	17					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCATCTGTGGCCAAGAAAAAT	0.413																																																	0													125	122	123					7																	129933071		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.51C>A	7.37:g.129933071C>A			B7Z576|Q86UY9	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G17	ENST00000222482.4	37	c.51	CCDS5818.1	7																																																																																			CPA4	-	NULL	ENSG00000128510		0.413	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	-	0	78	0	C	NM_016352		129933071	1	tier1	-	no_errors	ENST00000222482	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.114	A	A	129933071	C	A	129933071	2	1	10	1	0	0	0	0	0	0	0	1	3799	726	26	3		3	CPA4	7	129933071	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	85189	129933071	29205592	111	2732											
CHRM2	1129	genome.wustl.edu	37	chr7	136700024	136700024	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagtcaagcggaccacaAaaatggcaggtatgatgatt	15	7	10	9	1	1	2	1	2	0	0	1	3	1	3	2	3	1	2	2	3	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:136700024A>T	ENST00000445907.2	+	3	940	c.412A>T	c.(412-414)Aaa>Taa	p.K138*	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.K138*|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.K138*|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Nonsense_Mutation_p.K138*|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.K138*|CHRM2_ENST00000402486.3_Nonsense_Mutation_p.K138*	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	138					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCGGACCACAAAAATGGCAGG	0.493																																																	0													84	83	83					7																	136700024		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.412A>T	7.37:g.136700024A>T	ENSP00000399745:p.Lys138*		Q4VBK6|Q9P1X9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.K138*	ENST00000445907.2	37	c.412	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	A	37	6.197522	0.97367	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-3.8625	15.8611	0.79021	1.0:0.0:0.0:0.0	.	.	.	.	X	138	.	ENSP00000319984:K138X	K	+	1	0	CHRM2	136350564	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.281000	0.95811	2.145000	0.66743	0.529000	0.55759	AAA	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181072		0.493	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1		0	24	0	A			136700024	1			no_errors	ENST00000320658	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	0.999	T	T	136700024	A	T	136700024	4	4	10	1	0	0	0	0	0	1	0	0	3384	15	1	5	414	5	CHRM2	7	136700024	Nonsense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	6766953	136700024	22438639	112	2733											
ZNF425	155054	genome.wustl.edu	37	chr7	148801692	148801692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaggcttctcttgaggCggaaacttttgttacactcg	7	15	9	10	2	2	1	1	1	1	0	4	2	2	2	0	3	2	2	0	3	2	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:148801692C>T	ENST00000378061.2	-	4	1403	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	424					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCTTGAGGCGGAAACTTTT	0.552																																																	0													61	64	63					7																	148801692		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1271G>A	7.37:g.148801692C>T	ENSP00000367300:p.Arg424His		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R424H	ENST00000378061.2	37	c.1271	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256665	0.59321	.	.	ENSG00000204947	ENST00000378061	T	0.07567	3.18	3.57	2.68	0.31781	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08223	0.0205	L	0.58925	1.835	0.09310	N	1	P	0.42584	0.784	B	0.35971	0.215	T	0.25641	-1.0126	9	0.22109	T	0.4	.	8.78	0.34785	0.0:0.884:0.0:0.116	.	424	Q6IV72	ZN425_HUMAN	H	424	ENSP00000367300:R424H	ENSP00000367300:R424H	R	-	2	0	ZNF425	148432625	.	.	0.571000	0.28486	0.925000	0.55904	.	.	0.841000	0.35020	0.655000	0.94253	CGC	ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.552	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0	57	0	C	XM_088140		148801692	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.048	T	T	148801692	C	T	148801692	3	4	10	1	0	0	0	0	1	0	0	0	17947	768	27	1	991	1	ZNF425	7	148801692	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	12101668	148801692	10336971	113	2734											
ZNF212	7988	genome.wustl.edu	37	chr7	148950858	148950858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggtagtagagttcctagCagcagcagaactgtgggctg	9	10	15	7	0	0	2	0	0	0	2	1	2	1	2	1	2	4	8	1	2	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr7:148950858C>A	ENST00000335870.2	+	5	968	c.840C>A	c.(838-840)agC>agA	p.S280R		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GAGTTCCTAGCAGCAGCAGAA	0.557																																																	0													81	83	83					7																	148950858		2203	4300	6503	SO:0001583	missense	0			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.840C>A	7.37:g.148950858C>A	ENSP00000338572:p.Ser280Arg		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S280R	ENST00000335870.2	37	c.840	CCDS5896.1	7	.	.	.	.	.	.	.	.	.	.	C	10.05	1.245099	0.22796	.	.	ENSG00000170260	ENST00000335870	T	0.07327	3.2	5.52	3.45	0.39498	.	0.920237	0.09278	N	0.824212	T	0.05410	0.0143	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.37197	-0.9716	10	0.11485	T	0.65	-1.8927	7.9206	0.29843	0.0:0.7355:0.1681:0.0964	.	280	Q9UDV6	ZN212_HUMAN	R	280	ENSP00000338572:S280R	ENSP00000338572:S280R	S	+	3	2	ZNF212	148581791	0.003000	0.15002	0.027000	0.17364	0.005000	0.04900	-0.007000	0.12810	2.595000	0.87683	0.655000	0.94253	AGC	ZNF212	-	NULL	ENSG00000170260		0.557	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF212	HGNC	protein_coding	OTTHUMT00000352710.1	-	0	48	0	C	NM_012256		148950858	1	tier1	-	no_errors	ENST00000335870	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.002	A	A	148950858	C	A	148950858	3	1	10	1	0	0	0	0	1	0	0	0	17816	709	25	3	858	3	ZNF212	7	148950858	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	149166	148950858	10187805	114	2735											
MCPH1	285	genome.wustl.edu	37	chr8	6357421	6357421	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatttctgaggagccgttcGaactgtctcaccacttccct	7	12	9	13	2	2	1	1	1	2	0	5	4	3	3	3	2	2	1	3	2	1	3	rs575824036		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:6357421G>A	ENST00000325203.5	-	0	5166				ANGPT2_ENST00000415216.1_3'UTR|MCPH1_ENST00000344683.5_Missense_Mutation_p.E729K			O15123	ANGP2_HUMAN	angiopoietin 2						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGAGCCGTTCGAACTGTCTCA	0.413													G|||	1	0.000199681	8e-04	0	5008	,	,		16477	0		0	False		,,,				2504	0																0													155	161	159					8																	6357421		1911	4125	6036	SO:0001624	3_prime_UTR_variant	0			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"Fibrinogen C domain containing"	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.*3201C>T	8.37:g.6357421G>A			A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.E729K	ENST00000325203.5	37	c.2185	CCDS5958.1	8	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192898	0.78902	.	.	ENSG00000147316	ENST00000344683	T	0.26067	1.76	5.78	5.78	0.91487	BRCT (2);	0.417148	0.28760	N	0.014222	T	0.63616	0.2526	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72043	-0.4409	10	0.87932	D	0	-26.3605	17.8645	0.88792	0.0:0.0:1.0:0.0	.	729	Q8NEM0	MCPH1_HUMAN	K	729	ENSP00000342924:E729K	ENSP00000342924:E729K	E	+	1	0	MCPH1	6344829	1.000000	0.71417	0.655000	0.29622	0.071000	0.16799	8.889000	0.92470	2.894000	0.99253	0.591000	0.81541	GAA	MCPH1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000147316		0.413	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000206737.1	-	0	82	0	G	NM_001147		6357421	1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	missense	26.14	65	23	SNP	1.000	A	A	6357421	G	A	6357421	1	1	10	0	1	0	0	0	0	0	0	0	9436	1059	37	1		1	MCPH1	8	6357421	3'UTR	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		6357421	140006601	115	2736											
MTMR7	9108	genome.wustl.edu	37	chr8	17159669	17159669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtatgtcttacttcttcCagggcctctagttcttcctc	6	16	6	13	0	4	0	0	0	4	0	7	0	6	0	3	1	1	2	3	1	4	7			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:17159669C>T	ENST00000180173.5	-	13	1648	c.1614G>A	c.(1612-1614)ctG>ctA	p.L538L	MTMR7_ENST00000521857.1_Silent_p.L538L|MTMR7_ENST00000398099.3_Silent_p.L129L	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	538					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTACTTCTTCCAGGGCCTCTA	0.423																																																	0													164	150	155					8																	17159669		2203	4300	6503	SO:0001819	synonymous_variant	0			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1614G>A	8.37:g.17159669C>T			A1L4K9|B4DG87|Q68DX4	Silent	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.L538	ENST00000180173.5	37	c.1614	CCDS34851.1	8																																																																																			MTMR7	-	NULL	ENSG00000003987		0.423	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	-	0	36	0	C	NM_004686		17159669	-1	tier1	-	no_errors	ENST00000180173	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.006	T	T	17159669	C	T	17159669	2	4	10	1	0	0	0	0	0	0	0	1	9986	581	21	3		3	MTMR7	8	17159669	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	10802248	17159669	129204353	116	2737											
PIWIL2	55124	genome.wustl.edu	37	chr8	22168808	22168808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattcaatccacgttaggaGctgaggtaaaaatgtaattc	14	11	8	8	1	1	1	1	1	0	0	3	2	2	2	2	2	1	4	2	2	6	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:22168808G>T	ENST00000454009.2	+	16	2493	c.1984G>T	c.(1984-1986)Gct>Tct	p.A662S	PIWIL2_ENST00000356766.6_Missense_Mutation_p.A662S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A662S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	662					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CACGTTAGGAGCTGAGGTAAA	0.383																																																	0													82	85	84					8																	22168808		2203	4300	6503	SO:0001583	missense	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1984G>T	8.37:g.22168808G>T	ENSP00000406956:p.Ala662Ser		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.A662S	ENST00000454009.2	37	c.1984	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	G	3.122	-0.180420	0.06380	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.14391	2.51;2.51;2.51	5.62	5.62	0.85841	Ribonuclease H-like (1);	0.279242	0.38897	N	0.001523	T	0.04497	0.0123	N	0.01352	-0.895	0.23381	N	0.997799	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.35968	-0.9767	10	0.08599	T	0.76	.	12.5389	0.56158	0.0803:0.0:0.9197:0.0	.	662;662	E7ECA4;Q8TC59	.;PIWL2_HUMAN	S	662	ENSP00000349208:A662S;ENSP00000428267:A662S;ENSP00000406956:A662S	ENSP00000349208:A662S	A	+	1	0	PIWIL2	22224753	0.999000	0.42202	1.000000	0.80357	0.763000	0.43281	4.038000	0.57318	2.652000	0.90054	0.555000	0.69702	GCT	PIWIL2	-	superfamily_RNaseH-like_dom	ENSG00000197181		0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1		0	51	0	G			22168808	1			no_errors	ENST00000356766	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	22168808	G	T	22168808	3	4	10	1	0	0	0	0	1	0	0	0	11997	971	34	3	2042	3	PIWIL2	8	22168808	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	5009139	22168808	124195214	117	2738											
WHSC1L1	54904	genome.wustl.edu	37	chr8	38135883	38135883	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagtggcactccgttcTgccgttgcccagacaatcta	8	10	8	15	2	2	1	0	0	2	1	4	1	4	1	4	1	2	3	4	1	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:38135883T>A	ENST00000317025.8	-	22	4325	c.3808A>T	c.(3808-3810)Aga>Tga	p.R1270*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.R1259*|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.R1221*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1270	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CACTCCGTTCTGCCGTTGCCC	0.478			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													61	63	63					8																	38135883		1951	4163	6114	SO:0001587	stop_gained	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3808A>T	8.37:g.38135883T>A	ENSP00000313983:p.Arg1270*		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R1270*	ENST00000317025.8	37	c.3808	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	T	46	12.951322	0.99708	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	.	.	.	5.59	4.42	0.53409	.	0.000000	0.52532	U	0.000066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	11.6733	0.51415	0.0:0.0:0.282:0.718	.	.	.	.	X	1221;1270;1207;1259	.	ENSP00000313983:R1270X	R	-	1	2	WHSC1L1	38255040	0.998000	0.40836	0.959000	0.39883	0.994000	0.84299	2.808000	0.47963	0.941000	0.37499	0.477000	0.44152	AGA	WHSC1L1	-	smart_Post-SET_dom,pfscan_Post-SET_dom	ENSG00000147548		0.478	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0	63	0	T	NM_023034		38135883	-1	tier1	-	no_errors	ENST00000317025	ensembl	human	known	74_37	nonsense	12.33	63	9	SNP	1.000	A	A	38135883	T	A	38135883	4	1	10	1	0	0	0	0	0	1	0	0	17412	1588	55	5	517	5	WHSC1L1	8	38135883	Nonsense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	15967075	38135883	108228139	118	2739											
PRKDC	5591	genome.wustl.edu	37	chr8	48751732	48751733	+	Frame_Shift_Ins	INS	-	-	A																															gtccagggttctcatcgatcINSaatccttgaatcagcacatc																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:48751732_48751733insA	ENST00000314191.2	-	57	7582_7583	c.7526_7527insT	c.(7525-7527)ttgfs	p.L2509fs	PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.L2509fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2510	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCTCATCGATCAATCCTTGAAT	0.391								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0																																										SO:0001589	frameshift_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7527dupT	8.37:g.48751734_48751734dupA	ENSP00000313420:p.Leu2509fs		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Ins	INS	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2509fs	ENST00000314191.2	37	c.7527_7526		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.391	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding			0	66	0	-	NM_001081640		48751733	-1	tier1		no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_ins	25.71	52	18	INS	0.988:0.996	A	A	48751733	-	A	48751732	7	5	10	1	0	1	1	0	0	0	0	0	12563	825	29	0	4980	0	PRKDC	8	48751732	Frame_Shift_Ins	INS	-	TCGA-2H-A9GO-01A-11D-A37C-09	10615849	48751732	97612290	119	2740											
PXDNL	137902	genome.wustl.edu	37	chr8	52320734	52320734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgaagtcaacatatggtggGatcccgtggtctctacccct	8	11	10	12	1	2	1	1	1	1	0	4	2	3	2	3	3	2	0	3	3	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:52320734G>C	ENST00000356297.4	-	17	3550	c.3450C>G	c.(3448-3450)atC>atG	p.I1150M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I1150M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1150					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.I349I(1)|p.I1150I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATGGTGGGATCCCGTGGT	0.448																																																	2	Substitution - coding silent(2)	prostate(2)											96	97	97					8																	52320734		1854	4106	5960	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3450C>G	8.37:g.52320734G>C	ENSP00000348645:p.Ile1150Met		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.I1150M	ENST00000356297.4	37	c.3450	CCDS47855.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.180|4.180	0.032082|0.032082	0.08101|0.08101	.|.	.|.	ENSG00000147485|ENSG00000147485	ENST00000356297;ENST00000543296|ENST00000522933	T;T|.	0.70399|.	-0.48;-0.48|.	3.82|3.82	-0.651|-0.651	0.11454|0.11454	.|.	0.239917|.	0.28688|.	N|.	0.014461|.	T|T	0.44644|0.44644	0.1303|0.1303	M|M	0.75150|0.75150	2.29|2.29	0.27340|0.27340	N|N	0.956529|0.956529	P|.	0.46142|.	0.873|.	P|.	0.45712|.	0.491|.	T|T	0.43653|0.43653	-0.9378|-0.9378	10|5	0.40728|.	T|.	0.16|.	.|.	3.8635|3.8635	0.09005|0.09005	0.2003:0.0:0.3378:0.4618|0.2003:0.0:0.3378:0.4618	.|.	1150|.	A1KZ92|.	PXDNL_HUMAN|.	M|C	1150|269	ENSP00000348645:I1150M;ENSP00000444865:I1150M|.	ENSP00000348645:I1150M|.	I|S	-|-	3|2	3|0	PXDNL|PXDNL	52483287|52483287	0.115000|0.115000	0.22152|0.22152	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.805000|-0.805000	0.04530|0.04530	-0.218000|-0.218000	0.10018|0.10018	-0.136000|-0.136000	0.14681|0.14681	ATC|TCC	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.448	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	46	0	G	NM_144651		52320734	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	48.84	22	21	SNP	0.978	C	C	52320734	G	C	52320734	3	2	10	1	0	0	0	0	1	0	0	0	12893	1164	41	5	969	5	PXDNL	8	52320734	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	3569002	52320734	94043288	120	2741											
SULF1	23213	genome.wustl.edu	37	chr8	70517099	70517099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtcaaatcacttgcccAaatatgaacgggtcaaagaa	18	7	7	9	1	3	2	3	1	0	1	3	2	3	2	1	1	3	0	1	1	7	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:70517099A>G	ENST00000260128.4	+	13	2026	c.1309A>G	c.(1309-1311)Aaa>Gaa	p.K437E	SULF1_ENST00000419716.3_Missense_Mutation_p.K437E|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.K437E|SULF1_ENST00000458141.2_Missense_Mutation_p.K437E	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	437					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCACTTGCCCAAATATGAACG	0.468																																																	0													105	100	102					8																	70517099		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1309A>G	8.37:g.70517099A>G	ENSP00000260128:p.Lys437Glu		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.K437E	ENST00000260128.4	37	c.1309	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	A	27.6	4.844598	0.91197	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99399	-5.83;-5.83;-5.83;-5.83	6.04	6.04	0.98038	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.81497	2.545	0.80722	D	1	P	0.40515	0.719	B	0.40256	0.324	D	0.99872	1.1098	10	0.62326	D	0.03	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	437	Q8IWU6	SULF1_HUMAN	E	437	ENSP00000403040:K437E;ENSP00000260128:K437E;ENSP00000385704:K437E;ENSP00000390315:K437E	ENSP00000260128:K437E	K	+	1	0	SULF1	70679653	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	AAA	SULF1	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.468	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	49	0	A	NM_015170		70517099	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	G	G	70517099	A	G	70517099	3	3	10	1	0	0	0	0	1	0	0	0	15417	131	5	4	1343	4	SULF1	8	70517099	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	18196365	70517099	75846923	121	2742											
PRDM14	63978	genome.wustl.edu	37	chr8	70980758	70980758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccagagtttgaggaagaGaatcagatcctagcaaaagg	16	8	11	6	0	1	4	1	1	0	3	3	6	3	5	2	2	1	2	2	2	6	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:70980758G>T	ENST00000276594.2	-	3	911	c.710C>A	c.(709-711)tCt>tAt	p.S237Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	237					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TTGAGGAAGAGAATCAGATCC	0.388																																					NSCLC(129;99 1813 5906 40656 46114)												0													87	84	85					8																	70980758		2203	4300	6503	SO:0001583	missense	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.710C>A	8.37:g.70980758G>T	ENSP00000276594:p.Ser237Tyr		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S237Y	ENST00000276594.2	37	c.710	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	1.273	-0.612403	0.03690	.	.	ENSG00000147596	ENST00000276594	T	0.12147	2.71	5.05	1.96	0.26148	.	0.402479	0.17601	N	0.168415	T	0.14657	0.0354	M	0.74258	2.255	0.22762	N	0.998761	P	0.45902	0.868	B	0.40285	0.325	T	0.20571	-1.0271	10	0.66056	D	0.02	-0.7081	3.6233	0.08104	0.0912:0.1394:0.5582:0.2112	.	237	Q9GZV8	PRD14_HUMAN	Y	237	ENSP00000276594:S237Y	ENSP00000276594:S237Y	S	-	2	0	PRDM14	71143312	0.006000	0.16342	0.605000	0.28930	0.929000	0.56500	1.121000	0.31283	0.168000	0.19655	0.491000	0.48974	TCT	PRDM14	-	NULL	ENSG00000147596		0.388	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	-	0	40	0	G			70980758	-1	tier1	-	no_errors	ENST00000276594	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.519	T	T	70980758	G	T	70980758	3	4	10	1	0	0	0	0	1	0	0	0	12497	942	33	3	1029	3	PRDM14	8	70980758	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	463659	70980758	75383264	122	2743											
TCEB1	6921	genome.wustl.edu	37	chr8	74858940	74858940	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgggaattcaggaatctcGgtggagctgttagtgtagcg	9	12	15	5	2	2	0	1	0	1	0	3	3	2	3	0	4	2	3	0	4	4	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:74858940G>C	ENST00000522337.1	-	5	583	c.264C>G	c.(262-264)acC>acG	p.T88T	TCEB1_ENST00000519487.1_Silent_p.T88T|TCEB1_ENST00000520210.1_Silent_p.T72T|TCEB1_ENST00000518127.1_Silent_p.T88T|TCEB1_ENST00000284811.8_Silent_p.T88T|TCEB1_ENST00000520242.1_Silent_p.T88T|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000523815.1_Silent_p.T88T			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	88					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			CAGGAATCTCGGTGGAGCTGT	0.373																																																	0													71	60	64					8																	74858940		2203	4300	6503	SO:0001819	synonymous_variant	0			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.264C>G	8.37:g.74858940G>C			E5RGD9|Q567Q6	Silent	SNP	pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp	p.T88	ENST00000522337.1	37	c.264	CCDS34910.1	8																																																																																			TCEB1	-	superfamily_BTB/POZ_fold,smart_Skp1_comp	ENSG00000154582		0.373	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TCEB1	HGNC	protein_coding	OTTHUMT00000379020.1	-	0	46	0	G	NM_005648		74858940	-1	tier1	-	no_errors	ENST00000520242	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.482	C	C	74858940	G	C	74858940	2	2	10	1	0	0	0	0	0	0	0	1	15726	1103	39	5		5	TCEB1	8	74858940	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	3878182	74858940	71505082	123	2744											
TG	7038	genome.wustl.edu	37	chr8	133931746	133931746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagaacgaccatttctGctggagctttcagccagact	9	10	11	11	1	2	2	1	0	1	2	2	4	2	3	2	2	4	3	2	2	1	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:133931746G>A	ENST00000220616.4	+	21	4544	c.4504G>A	c.(4504-4506)Gct>Act	p.A1502T	TG_ENST00000377869.1_Missense_Mutation_p.A1502T|TG_ENST00000542445.1_De_novo_Start_OutOfFrame	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1502					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACCATTTCTGCTGGAGCTTT	0.493																																																	0													150	118	129					8																	133931746		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4504G>A	8.37:g.133931746G>A	ENSP00000220616:p.Ala1502Thr		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.A1502T	ENST00000220616.4	37	c.4504	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.505|1.505	-0.550892|-0.550892	0.03996|0.03996	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616|ENST00000519178	T;D|.	0.97378|.	2.51;-4.36|.	5.39|5.39	-2.13|-2.13	0.07144|0.07144	Tyrosine-protein kinase ephrin type A/B receptor-like (1);|.	2.862960|.	0.00899|.	N|.	0.002320|.	T|T	0.15825|0.15825	0.0381|0.0381	N|N	0.10945|0.10945	0.07|0.07	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.15052|.	0.012|.	T|T	0.29549|0.29549	-1.0008|-1.0008	10|5	0.12766|.	T|.	0.61|.	.|.	5.6584|5.6584	0.17654|0.17654	0.3026:0.3977:0.2997:0.0|0.3026:0.3977:0.2997:0.0	.|.	1502|.	P01266|.	THYG_HUMAN|.	T|Y	1502;308;1502|21	ENSP00000367100:A1502T;ENSP00000220616:A1502T|.	ENSP00000220616:A1502T|.	A|C	+|+	1|2	0|0	TG|TG	134000928|134000928	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.087000|0.087000	0.18053|0.18053	-1.090000|-1.090000	0.03372|0.03372	-0.316000|-0.316000	0.08690|0.08690	0.561000|0.561000	0.74099|0.74099	GCT|TGC	TG	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pirsf_Thyroglobulin	ENSG00000042832		0.493	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	44	0	G	NM_003235		133931746	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.000	A	A	133931746	G	A	133931746	3	1	10	1	0	0	0	0	1	0	0	0	15860	1319	46	3	4586	3	TG	8	133931746	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	59072806	133931746	12432276	124	2745											
TG	7038	genome.wustl.edu	37	chr8	134030169	134030169	+	Frame_Shift_Del	DEL	C	C	-																															gagttccatatgctgccccgCccctggcagagaggcgcttc																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:134030169delC	ENST00000220616.4	+	38	6749	c.6709delC	c.(6709-6711)cccfs	p.P2237fs	TG_ENST00000522523.1_3'UTR|TG_ENST00000519543.1_Frame_Shift_Del_p.P370fs|TG_ENST00000377869.1_Frame_Shift_Del_p.P2180fs|TG_ENST00000542445.1_Frame_Shift_Del_p.P607fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2237					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCTGCCCCGCCCCTGGCAGA	0.617																																																	0													51	49	49					8																	134030169		2203	4300	6503	SO:0001589	frameshift_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.6709delC	8.37:g.134030169delC	ENSP00000220616:p.Pro2237fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.L2238fs	ENST00000220616.4	37	c.6709	CCDS34944.1	8																																																																																			TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.617	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1		0	49	0	C	NM_003235		134030169	1	tier1		no_errors	ENST00000220616	ensembl	human	known	74_37	frame_shift_del	9.09	60	6	DEL	0.954	-	-	134030169	C	-	134030169	7	5	10	1	0	1	0	1	0	0	0	0	15860	739	26	0	6859	0	TG	8	134030169	Frame_Shift_Del	DEL	C	TCGA-2H-A9GO-01A-11D-A37C-09	98423	134030169	12333853	125	2746											
LRRC14	9684	genome.wustl.edu	37	chr8	145746623	145746623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcctcaaggagctgctgCgggactcagtggcacaggct	7	6	16	12	2	2	0	2	0	0	0	2	2	2	2	1	5	3	4	1	5	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr8:145746623C>T	ENST00000292524.1	+	4	1389	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	LRRC14_ENST00000529022.1_Missense_Mutation_p.R415W	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	415										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGAGCTGCTGCGGGACTCAGT	0.642																																																	0													61	56	58					8																	145746623		2202	4299	6501	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1243C>T	8.37:g.145746623C>T	ENSP00000292524:p.Arg415Trp		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.R415W	ENST00000292524.1	37	c.1243	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714099	0.30413	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.50001	0.76;0.76	5.0	1.99	0.26369	.	0.447530	0.22276	N	0.062187	T	0.49779	0.1577	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	P	0.59948	0.866	T	0.33752	-0.9856	10	0.59425	D	0.04	.	8.7625	0.34683	0.2751:0.5744:0.1504:0.0	.	415	Q15048	LRC14_HUMAN	W	415	ENSP00000434768:R415W;ENSP00000292524:R415W	ENSP00000292524:R415W	R	+	1	2	LRRC14	145717431	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.757000	0.26433	0.663000	0.31027	0.655000	0.94253	CGG	LRRC14	-	NULL	ENSG00000160959		0.642	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1		0	51	0	C	NM_014665		145746623	1			no_errors	ENST00000292524	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.005	T	T	145746623	C	T	145746623	3	4	10	1	0	0	0	0	1	0	0	0	9003	759	27	1	1253	1	LRRC14	8	145746623	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	11716454	145746623	617399	126	2747											
KIAA2026	158358	genome.wustl.edu	37	chr9	5922828	5922828	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaggaccttttgtattGgtgtggcaggtcaatgctgg	8	14	14	5	0	1	0	1	0	0	0	1	1	1	1	1	5	1	4	1	5	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:5922828G>T	ENST00000399933.3	-	8	3167	c.3168C>A	c.(3166-3168)acC>acA	p.T1056T	KIAA2026_ENST00000381461.2_Silent_p.T1026T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1056										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTTTTGTATTGGTGTGGCAGG	0.453																																																	0													109	101	103					9																	5922828		1893	4118	6011	SO:0001819	synonymous_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3168C>A	9.37:g.5922828G>T			A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.T1056	ENST00000399933.3	37	c.3168		9																																																																																			KIAA2026	-	NULL	ENSG00000183354		0.453	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0	61	0	G	NM_001017969		5922828	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	silent	8.00	46	4	SNP	0.639	T	T	5922828	G	T	5922828	2	4	10	1	0	0	0	0	0	0	0	1	8297	1335	47	3		3	KIAA2026	9	5922828	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		5922828	135290603	127	2748											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18777699	18777699	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacgccgggggaggctctCgaaggccacaccgcaagccc	8	2	16	15	4	1	0	0	0	1	0	2	3	1	2	4	5	1	2	4	5	2	0	rs374811326		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:18777699C>T	ENST00000380548.4	+	19	3811	c.3472C>T	c.(3472-3474)Cga>Tga	p.R1158*		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1158						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAGGCTCTCGAAGGCCACA	0.672																																																	0													25	30	29					9																	18777699		2130	4223	6353	SO:0001587	stop_gained	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3472C>T	9.37:g.18777699C>T	ENSP00000369921:p.Arg1158*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R1158*	ENST00000380548.4	37	c.3472	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.649958	0.99229	.	.	ENSG00000178031	ENST00000380548	.	.	.	5.31	5.31	0.75309	.	0.471726	0.19906	N	0.103415	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	19.8704	0.96847	0.0:1.0:0.0:0.0	.	.	.	.	X	1158	.	ENSP00000369921:R1158X	R	+	1	2	ADAMTSL1	18767699	0.011000	0.17503	0.198000	0.23420	0.064000	0.16182	1.532000	0.36029	2.868000	0.98415	0.557000	0.71058	CGA	ADAMTSL1	-	NULL	ENSG00000178031		0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	55	0	C			18777699	1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	nonsense	43.24	21	16	SNP	0.299	T	T	18777699	C	T	18777699	4	4	10	1	0	0	0	0	0	1	0	0	274	876	31	1	3550	1	ADAMTSL1	9	18777699	Nonsense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	12854871	18777699	122435732	128	2749											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971016	21971016	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcagccaggtccacGggcagacggccccaggcatc	8	4	12	17	2	1	1	1	0	0	1	4	1	3	1	5	4	2	3	5	4	0	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:21971016G>T	ENST00000304494.5	-	2	612	c.342C>A	c.(340-342)ccC>ccA	p.P114P	CDKN2A_ENST00000494262.1_Silent_p.P63P|CDKN2A_ENST00000498124.1_Silent_p.P114P|CDKN2A_ENST00000497750.1_Silent_p.P63P|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R129S|CDKN2A_ENST00000479692.2_Silent_p.P63P|CDKN2A_ENST00000579755.1_Missense_Mutation_p.R129S|CDKN2A_ENST00000579122.1_Silent_p.P114P|CDKN2A_ENST00000446177.1_Silent_p.P114P|CDKN2A_ENST00000578845.2_Silent_p.P63P|CDKN2A_ENST00000498628.2_Silent_p.P63P|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R170S	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	114			P -> L (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|P -> S (found in some patients with melanoma; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.P114L(2)|p.H83fs*2(2)|p.0(1)|p.A68fs*3(1)|p.P114P(1)|p.V115fs*11(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGGTCCACGGGCAGACGGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1367	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(3)|Substitution - Missense(2)|Insertion - Frameshift(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(283)|skin(176)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|pleura(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(31)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											21	23	22					9																	21971016		2200	4298	6498	SO:0001819	synonymous_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.342C>A	9.37:g.21971016G>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.R170S	ENST00000304494.5	37	c.508	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628209	0.46944	.	.	ENSG00000147889	ENST00000361570;ENST00000530628	T;T	0.76578	-1.03;-0.98	5.93	1.92	0.25849	.	0.481200	0.15576	N	0.255194	T	0.65668	0.2713	.	.	.	0.26896	N	0.967219	P	0.44090	0.826	B	0.43301	0.415	T	0.54146	-0.8337	9	0.18710	T	0.47	-14.6853	8.4344	0.32778	0.1386:0.2241:0.6373:0.0	.	170	Q8N726	CD2A2_HUMAN	S	170;129	ENSP00000355153:R170S;ENSP00000432664:R129S	ENSP00000355153:R170S	R	-	1	0	CDKN2A	21961016	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	1.451000	0.35145	0.371000	0.24564	0.655000	0.94253	CGT	CDKN2A	-	NULL	ENSG00000147889		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	61	0	G	NM_000077		21971016	-1			no_errors	ENST00000361570	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	21971016	G	T	21971016	2	4	10	1	0	0	0	0	0	0	0	1	3168	1116	39	2		2	CDKN2A	9	21971016	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	3193317	21971016	119242415	129	2750											
PIGO	84720	genome.wustl.edu	37	chr9	35091859	35091859	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaacagggccaccagcgcCgccacacaagctccatacca	12	3	8	18	2	0	0	0	0	0	0	1	0	1	0	6	1	4	2	6	1	3	2	rs368209276		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:35091859C>A	ENST00000378617.3	-	7	2419	c.2025G>T	c.(2023-2025)gcG>gcT	p.A675A	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Silent_p.A675A	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	675					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.A675A(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACCAGCGCCGCCACACAAG	0.602																																																	1	Substitution - coding silent(1)	lung(1)											44	46	45					9																	35091859		2203	4300	6503	SO:0001819	synonymous_variant	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2025G>T	9.37:g.35091859C>A			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.A675	ENST00000378617.3	37	c.2025	CCDS6575.1	9																																																																																			PIGO	-	NULL	ENSG00000165282		0.602	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1		0	49	0	C	NM_032634		35091859	-1			no_errors	ENST00000341666	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.001	A	A	35091859	C	A	35091859	2	1	10	1	0	0	0	0	0	0	0	1	11933	639	23	2		2	PIGO	9	35091859	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	13120843	35091859	106121572	130	2751											
SMC5	23137	genome.wustl.edu	37	chr9	72962954	72962954	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctccatacagaaaatgaGgtaaaattgcatttgaaata	18	11	7	5	0	1	3	0	2	1	1	2	4	1	3	1	1	2	2	1	1	7	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:72962954G>A	ENST00000361138.5	+	22	2947	c.2889G>A	c.(2887-2889)gaG>gaA	p.E963E	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	963					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CAGAAAATGAGGTAAAATTGC	0.249																																																	0													21	22	22					9																	72962954		2122	4270	6392	SO:0001630	splice_region_variant	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2889+1G>A	9.37:g.72962954G>A			A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.E963	ENST00000361138.5	37	c.2889	CCDS6632.1	9																																																																																			SMC5	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000198887		0.249	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	-	0	65	0	G	NM_015110	Silent	72962954	1	tier1	-	no_errors	ENST00000361138	ensembl	human	known	74_37	silent	28.85	37	15	SNP	1.000	A	A	72962954	G	A	72962954	5	1	10	1	0	0	0	0	0	0	1	0	14831	1014	35	3	2975	3	SMC5	9	72962954	Splice_Site	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	37871095	72962954	68250477	131	2752											
GDA	9615	genome.wustl.edu	37	chr9	74842874	74842874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagacagtgatggcacacGgctgctacctctctgcagaa	10	8	10	13	1	1	3	0	1	1	2	3	3	2	3	2	2	3	4	2	2	2	1	rs551530651		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:74842874G>A	ENST00000358399.3	+	9	931	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	GDA_ENST00000376989.3_Missense_Mutation_p.G219S|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.G202S|GDA_ENST00000238018.4_Missense_Mutation_p.G280S|GDA_ENST00000545168.1_Missense_Mutation_p.G206S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	280					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.G280S(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GATGGCACACGGCTGCTACCT	0.458													G|||	1	0.000199681	0	0.0014	5008	,	,		20636	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	lung(2)											115	88	97					9																	74842874		2203	4300	6503	SO:0001583	missense	0			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.838G>A	9.37:g.74842874G>A	ENSP00000351170:p.Gly280Ser		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.G280S	ENST00000358399.3	37	c.838	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199544	0.79015	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.38	5.38	0.77491	Amidohydrolase 1 (1);	0.046947	0.85682	D	0.000000	D	0.92782	0.7705	L	0.51853	1.615	0.49915	D	0.999836	P;D;D	0.76494	0.856;0.996;0.999	P;P;D	0.67548	0.635;0.901;0.952	D	0.90043	0.4143	10	0.19590	T	0.45	-7.1373	16.4114	0.83713	0.0:0.0:1.0:0.0	.	202;280;280	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	S	206;280;219;202;280;146	ENSP00000437972:G206S;ENSP00000238018:G280S;ENSP00000366188:G219S;ENSP00000366185:G202S;ENSP00000351170:G280S;ENSP00000403897:G146S	ENSP00000238018:G280S	G	+	1	0	GDA	74032694	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.822000	0.75277	2.668000	0.90789	0.563000	0.77884	GGC	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	ENSG00000119125		0.458	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	-	0	25	0	G			74842874	1	tier1	-	no_errors	ENST00000238018	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	74842874	G	A	74842874	3	1	10	1	0	0	0	0	1	0	0	0	6331	1116	39	1	872	1	GDA	9	74842874	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1879920	74842874	66370557	132	2753											
TGFBR1	7046	genome.wustl.edu	37	chr9	101908876	101908876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctgggaaattgctcgaCgatgttccattggtggtaaa	10	14	11	6	2	1	0	0	0	1	0	3	3	2	1	1	3	1	3	1	3	4	6	rs387906697		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:101908876C>G	ENST00000374994.4	+	7	1357	c.1240C>G	c.(1240-1242)Cga>Gga	p.R414G	TGFBR1_ENST00000550253.1_Missense_Mutation_p.R345G|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R337G|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R418G	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATTGCTCGACGATGTTCCAT	0.378																																																	0													273	269	271					9																	101908876		2203	4300	6503	SO:0001583	missense	0				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1240C>G	9.37:g.101908876C>G	ENSP00000364133:p.Arg414Gly		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R414G	ENST00000374994.4	37	c.1240	CCDS6738.1	9	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452638	0.63290	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.33	2.22	0.28083	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93926	0.8056	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93947	0.7228	10	0.87932	D	0	.	13.9103	0.63862	0.3887:0.6113:0.0:0.0	.	337;414	P36897-3;P36897	.;TGFR1_HUMAN	G	414;376;337;418;345	ENSP00000364133:R414G;ENSP00000364129:R337G;ENSP00000447297:R418G;ENSP00000450052:R345G	ENSP00000364129:R337G	R	+	1	2	TGFBR1	100948697	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.120000	0.41968	0.693000	0.31634	0.467000	0.42956	CGA	TGFBR1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000106799		0.378	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	HGNC	protein_coding	OTTHUMT00000053390.3	-	0	57	0	C			101908876	1	tier1	-	no_errors	ENST00000374994	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.999	G	G	101908876	C	G	101908876	3	3	10	1	0	0	0	0	1	0	0	0	15868	528	19	5	1266	5	TGFBR1	9	101908876	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	27066002	101908876	39304555	133	2754											
TLR4	7099	genome.wustl.edu	37	chr9	120476670	120476670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaatatgagattgctcAgacctggcagtttctgagca	10	13	10	8	0	2	4	1	3	1	2	2	5	2	4	1	1	2	4	1	1	2	4	rs55956551		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:120476670A>C	ENST00000355622.6	+	3	2365	c.2264A>C	c.(2263-2265)cAg>cCg	p.Q755P	TLR4_ENST00000394487.4_Missense_Mutation_p.Q715P|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	755	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GAGATTGCTCAGACCTGGCAG	0.502																																																	0													71	70	70					9																	120476670		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2264A>C	9.37:g.120476670A>C	ENSP00000363089:p.Gln755Pro		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q755P	ENST00000355622.6	37	c.2264	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793090	0.70452	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.08282	3.11;3.11	6.03	6.03	0.97812	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.088557	0.49916	D	0.000135	T	0.24547	0.0595	L	0.58510	1.815	0.43652	D	0.996067	D	0.76494	0.999	D	0.77557	0.99	T	0.00292	-1.1842	10	0.72032	D	0.01	.	12.3722	0.55261	0.9331:0.0:0.0669:0.0	.	755	O00206	TLR4_HUMAN	P	715;755	ENSP00000377997:Q715P;ENSP00000363089:Q755P	ENSP00000363089:Q755P	Q	+	2	0	TLR4	119516491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.522000	0.60539	2.308000	0.77769	0.533000	0.62120	CAG	TLR4	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000136869		0.502	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0	54	0	A	NM_138554		120476670	1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	C	C	120476670	A	C	120476670	3	2	10	1	0	0	0	0	1	0	0	0	16000	188	7	4	2274	4	TLR4	9	120476670	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	18567794	120476670	20736761	134	2755											
GSN	2934	genome.wustl.edu	37	chr9	124093675	124093675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctccaggtctttgtcTgggttggaaaggattctcaa	8	13	10	10	0	4	0	2	0	3	0	6	2	5	2	2	4	0	1	2	4	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:124093675T>C	ENST00000373818.4	+	16	2197	c.2128T>C	c.(2128-2130)Tgg>Cgg	p.W710R	GSN_ENST00000436847.1_Missense_Mutation_p.W670R|GSN_ENST00000412819.1_Missense_Mutation_p.W659R|GSN_ENST00000341272.2_Missense_Mutation_p.W659R|GSN_ENST00000373823.3_Missense_Mutation_p.W659R|GSN_ENST00000373808.2_Missense_Mutation_p.W659R|GSN_ENST00000373806.1_Missense_Mutation_p.W135R|GSN_ENST00000449733.1_Missense_Mutation_p.W659R|GSN_ENST00000394353.2_Missense_Mutation_p.W670R|GSN_ENST00000373807.1_Missense_Mutation_p.W441R|GSN_ENST00000545652.1_Missense_Mutation_p.W667R	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	710	Actin-binding, Ca-sensitive. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTCTTTGTCTGGGTTGGAAA	0.557																																																	0													72	63	66					9																	124093675		2203	4300	6503	SO:0001583	missense	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2128T>C	9.37:g.124093675T>C	ENSP00000362924:p.Trp710Arg		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.W710R	ENST00000373818.4	37	c.2128	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401907	0.83120	.	.	ENSG00000148180	ENST00000373823;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818;ENST00000373807;ENST00000373806	D;D;D;D;D;D;D;D;D;T;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-1.99;-0.41;-1.99	5.97	5.97	0.96955	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	H	0.98256	4.185	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.97024	0.9745	10	0.87932	D	0	-14.0872	15.2713	0.73705	0.0:0.0:0.0:1.0	.	683;667;670;441;710	B7Z9A0;F5H1A8;B7Z373;Q5T0H9;P06396	.;.;.;.;GELS_HUMAN	R	659;670;670;659;659;659;659;643;633;667;710;441;135	ENSP00000362929:W659R;ENSP00000411293:W670R;ENSP00000377882:W670R;ENSP00000409358:W659R;ENSP00000416586:W659R;ENSP00000340888:W659R;ENSP00000362914:W659R;ENSP00000445823:W667R;ENSP00000362924:W710R;ENSP00000362913:W441R;ENSP00000362912:W135R	ENSP00000340888:W659R	W	+	1	0	GSN	123133496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.908000	0.75730	2.281000	0.76405	0.533000	0.62120	TGG	GSN	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	ENSG00000148180		0.557	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1		0	42	0	T	NM_000177		124093675	1			no_errors	ENST00000373818	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C	C	124093675	T	C	124093675	3	2	10	1	0	0	0	0	1	0	0	0	6852	1580	55	4	2218	4	GSN	9	124093675	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	3617005	124093675	17119756	135	2756											
OR1L3	26735	genome.wustl.edu	37	chr9	125437661	125437661	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccaaagatgctcgtgaacTtcttatcagagaaaaagacc	15	9	7	10	1	2	4	1	1	1	3	4	5	3	4	2	0	2	1	2	0	5	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:125437661T>G	ENST00000304820.2	+	1	347	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GCTCGTGAACTTCTTATCAGA	0.393																																																	0													164	161	162					9																	125437661		2203	4300	6503	SO:0001583	missense	0				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"GPCR / Class A : Olfactory receptors"	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.253T>G	9.37:g.125437661T>G	ENSP00000302863:p.Phe85Val		B2RNF4|Q6IFN1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F85V	ENST00000304820.2	37	c.253	CCDS35128.1	9	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645131	0.47258	.	.	ENSG00000171481	ENST00000304820	T	0.00940	5.52	4.54	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.354591	0.20254	U	0.096005	T	0.02193	0.0068	M	0.78801	2.425	0.09310	N	1	D	0.53462	0.96	P	0.50136	0.632	T	0.40850	-0.9541	10	0.44086	T	0.13	-16.511	5.0117	0.14315	0.1632:0.0911:0.0:0.7457	.	85	Q8NH93	OR1L3_HUMAN	V	85	ENSP00000302863:F85V	ENSP00000302863:F85V	F	+	1	0	OR1L3	124477482	0.006000	0.16342	0.934000	0.37439	0.990000	0.78478	0.157000	0.16402	2.063000	0.61619	0.524000	0.50904	TTC	OR1L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171481		0.393	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L3	HGNC	protein_coding	OTTHUMT00000053950.1	-	0	43	0	T			125437661	1	tier1	-	no_errors	ENST00000304820	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.065	G	G	125437661	T	G	125437661	3	3	10	1	0	0	0	0	1	0	0	0	11003	1609	56	4	255	4	OR1L3	9	125437661	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	1343986	125437661	15775770	136	2757											
ZBTB43	23099	genome.wustl.edu	37	chr9	129595861	129595863	+	In_Frame_Del	DEL	AAG	AAG	-																															tgaaatggtaacagggattaAagaagaagcttcccacttag																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:129595861_129595863delAAG	ENST00000373464.4	+	3	1337_1339	c.1073_1075delAAG	c.(1072-1077)aaagaa>aaa	p.E360del	ZBTB43_ENST00000373457.1_In_Frame_Del_p.E360del|ZBTB43_ENST00000449886.1_In_Frame_Del_p.E360del	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						ACAGGGATTAAAGAAGAAGCTTC	0.473																																																	0																																										SO:0001651	inframe_deletion	0			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	17908	protein-coding gene	gene with protein product			"zinc finger protein 297B"	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1073_1075delAAG	9.37:g.129595867_129595869delAAG	ENSP00000362563:p.Glu360del		Q5JU96	In_Frame_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E360in_frame_del	ENST00000373464.4	37	c.1073_1075	CCDS6867.1	9																																																																																			ZBTB43	-	NULL	ENSG00000169155		0.473	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1		0	19	0	AAG	NM_001135776		129595863	1	tier1		no_errors	ENST00000373457	ensembl	human	known	74_37	in_frame_del	16.67	20	4	DEL	1.000:1.000:1.000	-	-	129595863	AAG	-	129595861	7	5	10	1	0	1	0	1	0	0	0	0	17592	14	1	0	1075	0	ZBTB43	9	129595861	In_Frame_Del	DEL	AAG	TCGA-2H-A9GO-01A-11D-A37C-09	4158200	129595861	11617570	137	2758											
GOLGA2	2801	genome.wustl.edu	37	chr9	131030440	131030440	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattgtcagcatcatgattCtgtttgggaagaaacgtgtg	11	13	11	6	1	3	2	2	1	1	1	3	3	3	3	0	1	2	2	0	1	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:131030440C>G	ENST00000421699.2	-	4	325		c.e4-1		GOLGA2_ENST00000609374.1_Splice_Site	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2						mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CATCATGATTCTGTTTGGGAA	0.468																																																	0													150	139	143					9																	131030440		2203	4300	6503	SO:0001630	splice_region_variant	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.313-1G>C	9.37:g.131030440C>G			Q6GRM9|Q9BRB0|Q9NYF9	Splice_Site	SNP	-	e4-1	ENST00000421699.2	37	c.313-1	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	c	13.78	2.340544	0.41498	.	.	ENSG00000167110	ENST00000421699;ENST00000450617;ENST00000458730	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9985	0.80270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA2	130070261	1.000000	0.71417	0.915000	0.36163	0.365000	0.29674	4.841000	0.62824	2.459000	0.83118	0.655000	0.94253	.	GOLGA2	-	-	ENSG00000167110		0.468	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	-	0	41	0	C	NM_004486	Intron	131030440	-1	tier1	-	no_errors	ENST00000421699	ensembl	human	known	74_37	splice_site	19.51	33	8	SNP	0.996	G	G	131030440	C	G	131030440	5	3	10	1	0	0	0	0	0	0	1	0	6578	927	32	5	2788	5	GOLGA2	9	131030440	Splice_Site	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	1434579	131030440	10182991	138	2759											
SPTAN1	6709	genome.wustl.edu	37	chr9	131371514	131371514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggcttggatcagtgaaaAattgcaaacagcgagtgatg	14	9	13	5	1	1	3	1	3	0	0	1	5	1	4	0	2	3	2	0	2	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:131371514A>T	ENST00000372731.4	+	36	4819	c.4709A>T	c.(4708-4710)aAa>aTa	p.K1570I	SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1570I|SPTAN1_ENST00000358161.5_Missense_Mutation_p.K1570I	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1570					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCAGTGAAAAATTGCAAACA	0.458																																					NSCLC(120;833 1744 2558 35612 37579)												0													109	99	102					9																	131371514		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4709A>T	9.37:g.131371514A>T	ENSP00000361816:p.Lys1570Ile		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.K1570I	ENST00000372731.4	37	c.4709	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873121	0.51695	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.56103	0.48;0.48;0.48	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.97110	1.0;0.994;0.996	D	0.86947	0.2083	10	0.87932	D	0	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	1550;1570;1570	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	I	1570;1570;1570;1550	ENSP00000350882:K1570I;ENSP00000361816:K1570I;ENSP00000361824:K1570I	ENSP00000350882:K1570I	K	+	2	0	SPTAN1	130411335	1.000000	0.71417	0.321000	0.25320	0.221000	0.24807	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	AAA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.458	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	55	0	A	NM_003127		131371514	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.999	T	T	131371514	A	T	131371514	3	4	10	1	0	0	0	0	1	0	0	0	15164	14	1	5	4847	5	SPTAN1	9	131371514	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	341074	131371514	9841917	139	2760											
C9orf98	158067	genome.wustl.edu	37	chr9	135602886	135602886	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagagtcagccgctccAtgatggaatcaaatggcaca	12	9	9	11	1	3	2	3	1	1	1	5	3	4	3	2	2	1	2	2	2	2	1	rs570204054		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:135602886A>G	ENST00000298545.3	-	12	1678	c.1157T>C	c.(1156-1158)aTg>aCg	p.M386T	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	386	Adenylate kinase 2.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.M386K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CAGCCGCTCCATGATGGAATC	0.448													A|||	1	0.000199681	0	0	5008	,	,		20782	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	kidney(2)											96	93	94					9																	135602886		2203	4300	6503	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1157T>C	9.37:g.135602886A>G	ENSP00000298545:p.Met386Thr		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.M386T	ENST00000298545.3	37	c.1157	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	A	3.216	-0.160653	0.06502	.	.	ENSG00000165695	ENST00000298545	T	0.75704	-0.96	4.85	2.51	0.30379	.	0.910316	0.09442	N	0.801634	T	0.57431	0.2053	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47699	-0.9097	10	0.48119	T	0.1	-0.628	3.6542	0.08214	0.7051:0.0:0.1022:0.1927	.	386	Q96MA6	KAD8_HUMAN	T	386	ENSP00000298545:M386T	ENSP00000298545:M386T	M	-	2	0	AK8	134592707	0.729000	0.28090	0.004000	0.12327	0.425000	0.31504	2.404000	0.44539	0.697000	0.31718	-0.549000	0.04216	ATG	AK8	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase	ENSG00000165695		0.448	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1		0	51	0	A	NM_152572		135602886	-1			no_errors	ENST00000298545	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.006	G	G	135602886	A	G	135602886	3	3	10	1	0	0	0	0	1	0	0	0	2516	217	8	4	290	4	C9orf98	9	135602886	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	4231372	135602886	5610545	140	2761											
ADAMTS13	11093	genome.wustl.edu	37	chr9	136298771	136298771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattttcagacctgcctttGgggggcgtgcatgtgttggt	4	14	15	8	1	1	1	1	0	0	1	1	1	1	1	2	4	2	3	2	4	0	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:136298771G>A	ENST00000371929.3	+	11	1699	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G388R|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G419R|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.G91R|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	419	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ACCTGCCTTTGGGGGGCGTGC	0.612																																																	0													100	82	88					9																	136298771		2203	4300	6503	SO:0001583	missense	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"ADAM metallopeptidases with thrombospondin type 1 motif"	1366	protein-coding gene	gene with protein product		604134	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1255G>A	9.37:g.136298771G>A	ENSP00000360997:p.Gly419Arg		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G419R	ENST00000371929.3	37	c.1255	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648758	0.87958	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.63096	-0.02;-0.02;-0.02;3.01	4.88	4.88	0.63580	.	.	.	.	.	D	0.83912	0.5357	M	0.92367	3.3	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.988	D	0.87698	0.2558	9	0.59425	D	0.04	.	17.3927	0.87436	0.0:0.0:1.0:0.0	.	419;388;419	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	R	419;419;388;91	ENSP00000360997:G419R;ENSP00000347927:G419R;ENSP00000348997:G388R;ENSP00000444504:G91R	ENSP00000347927:G419R	G	+	1	0	ADAMTS13	135288592	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	7.548000	0.82154	2.410000	0.81850	0.462000	0.41574	GGG	ADAMTS13	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000160323		0.612	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	-	0	68	0	G	NM_139025		136298771	1	tier1	-	no_errors	ENST00000371929	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	A	A	136298771	G	A	136298771	3	1	10	1	0	0	0	0	1	0	0	0	258	1348	47	3	1297	3	ADAMTS13	9	136298771	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	695885	136298771	4914660	141	2762											
OLFM1	10439	genome.wustl.edu	37	chr9	138011965	138011965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtatgcctggaacaacGgccaccagatcctctacaac	11	7	7	16	1	1	1	0	0	1	1	2	2	2	2	5	2	5	1	5	2	5	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr9:138011965G>A	ENST00000371793.3	+	6	1650	c.1399G>A	c.(1399-1401)Ggc>Agc	p.G467S	OLFM1_ENST00000371796.3_Missense_Mutation_p.G440S|OLFM1_ENST00000252854.4_Missense_Mutation_p.G449S	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	467	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTGGAACAACGGCCACCAGAT	0.562																																																	0													122	106	111					9																	138011965		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1399G>A	9.37:g.138011965G>A	ENSP00000360858:p.Gly467Ser		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.G467S	ENST00000371793.3	37	c.1399		9	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964838	0.92791	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90385	-2.66;-2.66;-2.66	4.94	4.94	0.65067	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95793	0.8631	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96260	0.9190	10	0.62326	D	0.03	.	18.166	0.89727	0.0:0.0:1.0:0.0	.	467;449	Q99784;Q6IMJ8	NOE1_HUMAN;.	S	449;440;467	ENSP00000252854:G449S;ENSP00000360861:G440S;ENSP00000360858:G467S	ENSP00000252854:G449S	G	+	1	0	OLFM1	137151786	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.535000	0.98064	2.296000	0.77279	0.561000	0.74099	GGC	OLFM1	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0	46	0	G	NM_014279		138011965	1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A	A	138011965	G	A	138011965	3	1	10	1	0	0	0	0	1	0	0	0	10891	1116	39	1	1377	1	OLFM1	9	138011965	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1713194	138011965	3201466	142	2763											
FAM107B	83641	genome.wustl.edu	37	chr10	14572365	14572365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagttctctgtgaagatCttgatggttccgggaggttt	9	14	13	5	1	2	4	0	2	2	2	4	5	3	5	1	3	0	3	1	3	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:14572365C>T	ENST00000378470.1	-	2	380	c.94G>A	c.(94-96)Gat>Aat	p.D32N	FAM107B_ENST00000478076.1_Missense_Mutation_p.D32N|FAM107B_ENST00000468747.1_Missense_Mutation_p.D32N|FAM107B_ENST00000378462.1_Missense_Mutation_p.D32N|FAM107B_ENST00000378458.2_Missense_Mutation_p.D32N|FAM107B_ENST00000496330.1_Missense_Mutation_p.D32N|FAM107B_ENST00000479731.1_Missense_Mutation_p.D32N|FAM107B_ENST00000378467.4_Missense_Mutation_p.D32N|FAM107B_ENST00000378465.3_Missense_Mutation_p.D32N|FAM107B_ENST00000181796.2_Missense_Mutation_p.D207N|FAM107B_ENST00000471815.1_5'UTR	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	32					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGTGAAGATCTTGATGGTTC	0.353																																																	0													122	119	120					10																	14572365		2203	4300	6503	SO:0001583	missense	0			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.94G>A	10.37:g.14572365C>T	ENSP00000367731:p.Asp32Asn		A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	pfam_DUF1151	p.D207N	ENST00000378470.1	37	c.619		10	.	.	.	.	.	.	.	.	.	.	C	32	5.136749	0.94517	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277;ENST00000472095	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.28608	0.87	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.994	T	0.52909	-0.8512	10	0.42905	T	0.14	-17.1425	17.7337	0.88386	0.0:1.0:0.0:0.0	.	207;32	Q9H098-2;Q9H098	.;F107B_HUMAN	N	32;207;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32;32	ENSP00000367731:D32N;ENSP00000181796:D207N;ENSP00000418120:D32N;ENSP00000367728:D32N;ENSP00000367726:D32N;ENSP00000367719:D32N;ENSP00000417782:D32N;ENSP00000367723:D32N;ENSP00000418330:D32N;ENSP00000419603:D32N;ENSP00000420444:D32N;ENSP00000413676:D32N;ENSP00000420249:D32N;ENSP00000418395:D32N;ENSP00000417242:D32N;ENSP00000420314:D32N;ENSP00000397949:D32N;ENSP00000417845:D32N;ENSP00000419064:D32N	ENSP00000181796:D207N	D	-	1	0	FAM107B	14612371	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.487000	0.81328	2.436000	0.82500	0.591000	0.81541	GAT	FAM107B	-	pfam_DUF1151	ENSG00000065809		0.353	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000046899.1	-	0	33	0	C	NM_031453		14572365	-1	tier1	-	no_errors	ENST00000181796	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	T	T	14572365	C	T	14572365	3	4	10	1	0	0	0	0	1	0	0	0	5409	913	32	3	313	3	FAM107B	10	14572365	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09		14572365	120962382	143	2764											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14974898	14974898	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtgttgcggtctgttgtGagatgatgaaggatctcagg	8	13	16	4	1	2	4	1	4	2	1	3	6	2	5	0	3	1	2	0	3	1	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:14974898G>C	ENST00000378278.2	-	9	772	c.735C>G	c.(733-735)ctC>ctG	p.L245L	DCLRE1C_ENST00000357717.2_Silent_p.L130L|DCLRE1C_ENST00000378249.1_Silent_p.L130L|DCLRE1C_ENST00000396817.2_Silent_p.L125L|DCLRE1C_ENST00000378258.1_Silent_p.L125L|DCLRE1C_ENST00000378255.1_Silent_p.L125L|DCLRE1C_ENST00000378246.2_Silent_p.L130L|DCLRE1C_ENST00000378289.4_Silent_p.L245L|DCLRE1C_ENST00000378254.1_Silent_p.L125L|DCLRE1C_ENST00000453695.2_Silent_p.L125L			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	245					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGTCTGTTGTGAGATGATGAA	0.393								Non-homologous end-joining																																									0													241	197	212					10																	14974898		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.735C>G	10.37:g.14974898G>C			D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	pfam_DRMBL	p.L245	ENST00000378278.2	37	c.735	CCDS31149.1	10																																																																																			DCLRE1C	-	pfam_DRMBL	ENSG00000152457		0.393	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	60	0	G	NM_022487		14974898	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	silent	27.87	44	17	SNP	0.994	C	C	14974898	G	C	14974898	2	2	10	1	0	0	0	0	0	0	0	1	4305	1277	45	5		5	DCLRE1C	10	14974898	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	402533	14974898	120559849	144	2765											
CUBN	8029	genome.wustl.edu	37	chr10	16980995	16980995	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatagcagttttgtatttcTtctatgtccatctccaagat	10	18	5	8	0	3	1	0	0	3	1	5	1	4	1	2	0	1	3	2	0	5	8			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:16980995T>G	ENST00000377833.4	-	38	5765	c.5700A>C	c.(5698-5700)gaA>gaC	p.E1900D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1900	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGTATTTCTTCTATGTCCA	0.353																																																	0													117	108	111					10																	16980995		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5700A>C	10.37:g.16980995T>G	ENSP00000367064:p.Glu1900Asp		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.E1900D	ENST00000377833.4	37	c.5700	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	16.79	3.220532	0.58560	.	.	ENSG00000107611	ENST00000377833	T	0.43688	0.94	5.36	2.89	0.33648	CUB (5);	0.000000	0.47455	D	0.000231	T	0.64549	0.2608	M	0.88241	2.94	0.80722	D	1	D	0.63880	0.993	D	0.66084	0.941	T	0.66228	-0.5976	10	0.66056	D	0.02	.	9.5073	0.39056	0.0:0.1525:0.0:0.8475	.	1900	O60494	CUBN_HUMAN	D	1900	ENSP00000367064:E1900D	ENSP00000367064:E1900D	E	-	3	2	CUBN	17021001	0.954000	0.32549	0.478000	0.27316	0.764000	0.43329	1.657000	0.37366	0.382000	0.24878	0.477000	0.44152	GAA	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.353	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	103	0	T	NM_001081		16980995	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	24.44	102	33	SNP	0.753	G	G	16980995	T	G	16980995	3	3	10	1	0	0	0	0	1	0	0	0	4060	1606	56	4	5291	4	CUBN	10	16980995	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	2006097	16980995	118553752	145	2766											
APBB1IP	54518	genome.wustl.edu	37	chr10	26825011	26825011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactttcaggaaagtttCtgtggaacatctatcattgt	10	16	7	8	0	5	0	3	0	3	0	6	2	5	2	0	2	1	1	0	2	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:26825011C>A	ENST00000376236.4	+	10	1364	c.909C>A	c.(907-909)ttC>ttA	p.F303L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	303					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGGAAAGTTTCTGTGGAACAT	0.353																																																	0													98	105	103					10																	26825011		2203	4300	6503	SO:0001583	missense	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.909C>A	10.37:g.26825011C>A	ENSP00000365411:p.Phe303Leu		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.F303L	ENST00000376236.4	37	c.909	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662146	0.67700	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.42513	0.97	5.61	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.978	T	0.53078	-0.8489	10	0.30078	T	0.28	.	9.6937	0.40145	0.0:0.7875:0.0:0.2125	.	303;303	B4E100;Q7Z5R6	.;AB1IP_HUMAN	L	303	ENSP00000365411:F303L	ENSP00000365411:F303L	F	+	3	2	APBB1IP	26865017	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.194000	0.42668	0.737000	0.32582	0.650000	0.86243	TTC	APBB1IP	-	NULL	ENSG00000077420		0.353	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	-	0	37	0	C	NM_019043		26825011	1	tier1	-	no_errors	ENST00000376236	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	A	A	26825011	C	A	26825011	3	1	10	1	0	0	0	0	1	0	0	0	760	912	32	3	939	3	APBB1IP	10	26825011	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	9844016	26825011	108709736	146	2767											
SVIL	6840	genome.wustl.edu	37	chr10	29782145	29782145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacccaaataactcacttGggtgcataaggatcgaaaat	16	8	9	8	1	1	1	1	0	0	1	2	4	1	2	1	2	2	1	1	2	5	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:29782145G>T	ENST00000355867.4	-	21	4769	c.4017C>A	c.(4015-4017)ccC>ccA	p.P1339P	SVIL_ENST00000538146.1_Silent_p.P131P|SVIL_ENST00000535393.1_Silent_p.P253P|SVIL_ENST00000375400.3_Silent_p.P913P|SVIL_ENST00000375398.2_Silent_p.P1339P	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1339					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TAACTCACTTGGGTGCATAAG	0.493																																																	0													76	66	70					10																	29782145		2203	4300	6503	SO:0001819	synonymous_variant	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4017C>A	10.37:g.29782145G>T			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.P1339	ENST00000355867.4	37	c.4017	CCDS7164.1	10																																																																																			SVIL	-	NULL	ENSG00000197321		0.493	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1		0	56	0	G			29782145	-1			no_errors	ENST00000355867	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	29782145	G	T	29782145	2	4	10	1	0	0	0	0	0	0	0	1	15468	1335	47	3		3	SVIL	10	29782145	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	2957134	29782145	105752602	147	2768											
ANUBL1	93550	genome.wustl.edu	37	chr10	46113654	46113654	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaatgatttgttgttttcTtctttgtctgaagaggggct	8	18	10	5	0	3	3	0	2	3	1	3	3	3	3	0	2	1	3	0	2	3	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:46113654T>G	ENST00000344646.5	-	9	2197	c.1982A>C	c.(1981-1983)aAg>aCg	p.K661T	ZFAND4_ENST00000374366.3_Missense_Mutation_p.K587T|ZFAND4_ENST00000374371.2_Missense_Mutation_p.E208D|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	661							zinc ion binding (GO:0008270)										TGTTGTTTTCTTCTTTGTCTG	0.433																																																	0													88	85	86					10																	46113654		2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1982A>C	10.37:g.46113654T>G	ENSP00000339484:p.Lys661Thr		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.K661T	ENST00000344646.5	37	c.1982	CCDS7214.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.10|17.10	3.302660|3.302660	0.60195|0.60195	.|.	.|.	ENSG00000172671|ENSG00000172671	ENST00000374371;ENST00000374376|ENST00000344646;ENST00000374366;ENST00000374370	T|T;T	0.50001|0.28666	0.76|1.6;1.61	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Zinc finger, AN1-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37785|0.37785	0.1016|0.1016	L|L	0.55017|0.55017	1.72|1.72	0.80722|0.80722	D|D	1|1	P|B	0.52316|0.25390	0.952|0.125	P|B	0.46885|0.37091	0.53|0.241	T|T	0.17289|0.17289	-1.0374|-1.0374	9|10	0.48119|0.45353	T|T	0.1|0.12	-21.1519|-21.1519	14.4463|14.4463	0.67352|0.67352	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	208|661	Q5VVY4|Q86XD8	.|ANUB1_HUMAN	D|T	208|661;587;543	ENSP00000363491:E208D|ENSP00000339484:K661T;ENSP00000363486:K587T	ENSP00000363491:E208D|ENSP00000339484:K661T	E|K	-|-	3|2	2|0	ANUBL1|ANUBL1	45433660|45433660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.634000|0.634000	0.38068|0.38068	7.353000|7.353000	0.79414|0.79414	2.291000|2.291000	0.77112|0.77112	0.533000|0.533000	0.62120|0.62120	GAA|AAG	ZFAND4	-	NULL	ENSG00000172671		0.433	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	-	0	49	0	T	NM_174890		46113654	-1	tier1	-	no_errors	ENST00000344646	ensembl	human	known	74_37	missense	68.64	37	81	SNP	1.000	G	G	46113654	T	G	46113654	3	3	10	1	0	0	0	0	1	0	0	0	713	1609	56	4	209	4	ANUBL1	10	46113654	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	16331509	46113654	89421093	148	2769											
HERC4	26091	genome.wustl.edu	37	chr10	69804297	69804297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacagctacaatattttGggcatccagggcaacaacct	14	9	8	10	0	0	1	0	1	0	0	1	1	1	1	2	2	5	3	2	2	6	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:69804297G>T	ENST00000395198.3	-	4	497	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	HERC4_ENST00000395187.2_Intron|HERC4_ENST00000412272.2_Missense_Mutation_p.Q84K|HERC4_ENST00000373700.4_Missense_Mutation_p.Q84K	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	84					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACAATATTTTGGGCATCCAGG	0.413																																																	0													153	129	137					10																	69804297		2203	4300	6503	SO:0001583	missense	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"hect domain and RLD 4"			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.250C>A	10.37:g.69804297G>T	ENSP00000378624:p.Gln84Lys		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q84K	ENST00000395198.3	37	c.250	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781310	0.70222	.	.	ENSG00000148634	ENST00000412272;ENST00000395198;ENST00000373700;ENST00000513996	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.54	5.54	0.83059	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	N	0.02973	-0.45	0.80722	D	1	D;P;B;B	0.57257	0.979;0.905;0.33;0.382	D;P;B;B	0.63703	0.917;0.579;0.171;0.262	T	0.82812	-0.0272	9	.	.	.	.	19.4692	0.94956	0.0:0.0:1.0:0.0	.	84;84;84;84	Q5GLZ8-3;A8K9U4;Q5GLZ8-2;Q5GLZ8	.;.;.;HERC4_HUMAN	K	84	ENSP00000416504:Q84K;ENSP00000378624:Q84K;ENSP00000362804:Q84K;ENSP00000427191:Q84K	.	Q	-	1	0	HERC4	69474303	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.790000	0.99075	2.596000	0.87737	0.591000	0.81541	CAA	HERC4	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000148634		0.413	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1		0	68	0	G	NM_015601		69804297	-1			no_errors	ENST00000395198	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T	T	69804297	G	T	69804297	3	4	10	1	0	0	0	0	1	0	0	0	7087	1357	47	3	3015	3	HERC4	10	69804297	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	23690643	69804297	65730450	149	2770											
PRF1	5551	genome.wustl.edu	37	chr10	72358049	72358049	+	Frame_Shift_Del	DEL	C	C	-																															cagacctgcaacctcaggggCccccctgtggccaggagcac																								rs145695221	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:72358049delC	ENST00000441259.1	-	3	1588	c.1428delG	c.(1426-1428)gggfs	p.G476fs	PRF1_ENST00000373209.2_Frame_Shift_Del_p.G476fs	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	476	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACCTCAGGGGCCCCCCTGTGG	0.602			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													84	95	92					10																	72358049		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1428delG	10.37:g.72358049delC	ENSP00000398568:p.Gly476fs		B2R6X4|Q59F57|Q86WX7	Frame_Shift_Del	DEL	pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom	p.L478fs	ENST00000441259.1	37	c.1428	CCDS7305.1	10																																																																																			PRF1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000180644		0.602	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2		0	29	0	C	NM_005041		72358049	-1	tier1		no_errors	ENST00000373209	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	0.000	-	-	72358049	C	-	72358049	7	5	10	1	0	1	0	1	0	0	0	0	12520	726	26	0	243	0	PRF1	10	72358049	Frame_Shift_Del	DEL	C	TCGA-2H-A9GO-01A-11D-A37C-09	2553752	72358049	63176698	150	2771											
C10orf12	26148	genome.wustl.edu	37	chr10	98741294	98741294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcagggtttatggggaaCtcatctagaactgctgacaa	13	10	10	8	0	3	2	2	1	1	1	3	3	3	3	0	3	4	2	0	3	6	3	rs375341794		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:98741294C>G	ENST00000286067.2	+	1	254	c.147C>G	c.(145-147)aaC>aaG	p.N49K		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	49			N -> S (in dbSNP:rs11188980).							NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TTATGGGGAACTCATCTAGAA	0.413																																																	0													83	80	81					10																	98741294		2203	4300	6503	SO:0001583	missense	0			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.147C>G	10.37:g.98741294C>G	ENSP00000286067:p.Asn49Lys		Q9H945|Q9Y457	Missense_Mutation	SNP	NULL	p.N49K	ENST00000286067.2	37	c.147	CCDS7452.1	10	.	.	.	.	.	.	.	.	.	.	C	3.031	-0.199701	0.06219	.	.	ENSG00000155640	ENST00000286067	T	0.08896	3.04	5.51	1.45	0.22620	.	0.248098	0.27478	U	0.019190	T	0.07324	0.0185	L	0.32530	0.975	0.09310	N	1	B	0.26845	0.161	B	0.30495	0.116	T	0.28332	-1.0047	10	0.66056	D	0.02	-10.4019	8.8475	0.35179	0.0:0.609:0.0:0.391	.	49	Q8N655	CJ012_HUMAN	K	49	ENSP00000286067:N49K	ENSP00000286067:N49K	N	+	3	2	C10orf12	98731284	0.799000	0.28903	0.008000	0.14137	0.029000	0.11900	0.320000	0.19540	0.240000	0.21263	0.655000	0.94253	AAC	C10orf12	-	NULL	ENSG00000155640		0.413	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	-	0	30	0	C	NM_015652		98741294	1	tier1	-	no_errors	ENST00000286067	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.002	G	G	98741294	C	G	98741294	3	3	10	1	0	0	0	0	1	0	0	0	1594	564	20	5	149	5	C10orf12	10	98741294	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	26383245	98741294	36793453	151	2772											
SEC31B	25956	genome.wustl.edu	37	chr10	102250010	102250010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaccaggaagaggccatGtcccagggaatcccaccggg	11	3	15	12	1	0	1	0	0	0	1	2	4	2	4	5	5	1	0	5	5	3	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:102250010G>A	ENST00000370345.3	-	21	2817	c.2720C>T	c.(2719-2721)aCa>aTa	p.T907I		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	907	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGAGGCCATGTCCCAGGGAA	0.547																																																	0													93	79	84					10																	102250010		2203	4300	6503	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2720C>T	10.37:g.102250010G>A	ENSP00000359370:p.Thr907Ile		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T907I	ENST00000370345.3	37	c.2720	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633781	0.29068	.	.	ENSG00000075826	ENST00000370345	T	0.52057	0.68	5.75	-0.237	0.13061	.	1.261230	0.04854	N	0.442813	T	0.40619	0.1124	M	0.64997	1.995	0.09310	N	1	B;B	0.32573	0.376;0.126	B;B	0.29785	0.107;0.021	T	0.21655	-1.0239	10	0.23302	T	0.38	0.6224	4.6518	0.12598	0.2776:0.3186:0.4038:0.0	.	906;907	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	I	907	ENSP00000359370:T907I	ENSP00000359370:T907I	T	-	2	0	SEC31B	102240000	0.001000	0.12720	0.368000	0.25939	0.783000	0.44284	0.184000	0.16939	0.263000	0.21812	0.561000	0.74099	ACA	SEC31B	-	NULL	ENSG00000075826		0.547	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1		0	31	0	G	NM_015490		102250010	-1			no_errors	ENST00000370345	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.002	A	A	102250010	G	A	102250010	3	1	10	1	0	0	0	0	1	0	0	0	14044	1377	48	3	843	3	SEC31B	10	102250010	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	3508716	102250010	33284737	152	2773											
SORCS3	22986	genome.wustl.edu	37	chr10	106982918	106982918	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttccatttgttgccataAgaaataaggaggtcaacatc	14	11	9	7	0	1	1	1	0	0	1	3	3	2	2	2	2	2	2	2	2	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:106982918A>T	ENST00000369701.3	+	20	3006	c.2779A>T	c.(2779-2781)Aga>Tga	p.R927*	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	927					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTTGCCATAAGAAATAAGGA	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)												0													167	159	162					10																	106982918		2203	4300	6503	SO:0001587	stop_gained	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2779A>T	10.37:g.106982918A>T	ENSP00000358715:p.Arg927*		Q5VXF9|Q9NQJ2	Nonsense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.R927*	ENST00000369701.3	37	c.2779	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	A	43	9.866726	0.99283	.	.	ENSG00000156395	ENST00000369701	.	.	.	5.06	2.47	0.30058	.	0.162163	0.53938	D	0.000060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8121	0.52189	0.7241:0.2759:0.0:0.0	.	.	.	.	X	927	.	.	R	+	1	2	SORCS3	106972908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.525000	0.67110	0.841000	0.35020	0.460000	0.39030	AGA	SORCS3	-	superfamily_PKD_dom	ENSG00000156395		0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1		0	57	0	A	NM_014978		106982918	1			no_errors	ENST00000369701	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	1.000	T	T	106982918	A	T	106982918	4	4	10	1	0	0	0	0	0	1	0	0	14977	64	3	5	2857	5	SORCS3	10	106982918	Nonsense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	4732908	106982918	28551829	153	2774											
DOCK1	1793	genome.wustl.edu	37	chr10	129207590	129207590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcagatattcagtgcttCacagtgaagcccaaactcga	13	9	7	12	1	3	2	3	1	0	1	4	3	3	2	2	0	3	1	2	0	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr10:129207590C>T	ENST00000280333.6	+	42	4324	c.4215C>T	c.(4213-4215)ttC>ttT	p.F1405F		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1405	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCAGTGCTTCACAGTGAAGC	0.488																																																	0													121	117	119					10																	129207590		1968	4162	6130	SO:0001819	synonymous_variant	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4215C>T	10.37:g.129207590C>T			A9Z1Z5	Silent	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.F1405	ENST00000280333.6	37	c.4215		10																																																																																			DOCK1	-	NULL	ENSG00000150760		0.488	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0	62	0	C	NM_001380		129207590	1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	silent	7.81	59	5	SNP	1.000	T	T	129207590	C	T	129207590	2	4	10	1	0	0	0	0	0	0	0	1	4698	825	29	3		3	DOCK1	10	129207590	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	22224672	129207590	6327157	154	2775											
MUC2	4583	genome.wustl.edu	37	chr11	1090371	1090371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcccaagtcgtctgcaggCcggaggaaggtaagctgccc	8	6	13	14	2	1	0	0	0	1	0	3	2	2	2	4	4	3	3	4	4	3	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:1090371C>G	ENST00000441003.2	+	27	3694	c.3667C>G	c.(3667-3669)Ccg>Gcg	p.P1223A	MUC2_ENST00000361558.6_5'Flank|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1223					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P1223T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTCTGCAGGCCGGAGGAAGG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											60	65	63					11																	1090371		2190	4277	6467	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3667C>G	11.37:g.1090371C>G	ENSP00000415183:p.Pro1223Ala		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1223A	ENST00000441003.2	37	c.3667		11	.	.	.	.	.	.	.	.	.	.	c	1.919	-0.448768	0.04572	.	.	ENSG00000198788	ENST00000441003	T	0.12255	2.7	2.43	-2.26	0.06867	.	.	.	.	.	T	0.07369	0.0186	L	0.34521	1.04	0.09310	N	1	B	0.26041	0.14	B	0.28991	0.097	T	0.43310	-0.9399	9	0.07175	T	0.84	.	3.326	0.07067	0.0:0.3408:0.2161:0.4431	.	1223	E7EUV1	.	A	1223	ENSP00000415183:P1223A	ENSP00000415183:P1223A	P	+	1	0	MUC2	1080371	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.728000	0.04925	-0.534000	0.06315	0.441000	0.28932	CCG	MUC2	-	NULL	ENSG00000198788		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2		0	30	0	C	NM_002457		1090371	1			no_errors	ENST00000441003	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.000	G	G	1090371	C	G	1090371	3	3	10	1	0	0	0	0	1	0	0	0	10013	739	26	5	3773	5	MUC2	11	1090371	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09		1090371	133916145	155	2776											
C11orf40	143501	genome.wustl.edu	37	chr11	4592706	4592706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaagtagaacacgatccaTacagtttttccctgcaaaga	15	10	7	9	1	0	3	0	1	0	2	2	4	2	3	2	0	3	3	2	0	5	4	rs80310454|rs141600462	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:4592706T>C	ENST00000307616.1	-	4	600	c.601A>G	c.(601-603)Atg>Gtg	p.M201V		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	201										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		acacgatccatacagtttttc	0.423																																																	0													85	75	78					11																	4592706		2130	4163	6293	SO:0001583	missense	0				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.601A>G	11.37:g.4592706T>C	ENSP00000302918:p.Met201Val			Missense_Mutation	SNP	NULL	p.M201V	ENST00000307616.1	37	c.601	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	T	0.023	-1.401760	0.01165	.	.	ENSG00000171987	ENST00000307616	T	0.48522	0.81	0.56	-0.676	0.11361	.	.	.	.	.	T	0.23572	0.0570	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.17198	-1.0377	8	0.87932	D	0	.	.	.	.	.	201	Q8WZ69	CK040_HUMAN	V	201	ENSP00000302918:M201V	ENSP00000302918:M201V	M	-	1	0	C11orf40	4549282	0.002000	0.14202	0.001000	0.08648	0.012000	0.07955	-0.229000	0.09098	-0.307000	0.08804	0.155000	0.16302	ATG	C11orf40	-	NULL	ENSG00000171987		0.423	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1		0	75	0	T	NM_144663		4592706	-1			no_errors	ENST00000307616	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.001	C	C	4592706	T	C	4592706	3	2	10	1	0	0	0	0	1	0	0	0	1644	1406	49	4	55	4	C11orf40	11	4592706	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	3502335	4592706	130413810	156	2777											
OR52B2	255725	genome.wustl.edu	37	chr11	6191058	6191058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttaggcagaagggcagccGcttcagcaagaatatgactg	12	7	14	8	1	1	3	1	1	0	2	1	3	1	3	1	3	2	5	1	3	5	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:6191058G>A	ENST00000530810.1	-	1	580	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R167R(2)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGGGCAGCCGCTTCAGCAAG	0.488																																					NSCLC(5;186 261 1778 7098 14207)												2	Substitution - coding silent(2)	lung(2)											61	61	61					11																	6191058		2098	4221	6319	SO:0001583	missense	0			AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"GPCR / Class A : Olfactory receptors"	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.499C>T	11.37:g.6191058G>A	ENSP00000432011:p.Arg167Trp		Q8NGM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R167W	ENST00000530810.1	37	c.499	CCDS53598.1	11	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370405	0.61624	.	.	ENSG00000255307	ENST00000530810	T	0.00188	8.59	5.43	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.83312	2.635	0.29058	N	0.884093	D	0.89917	1.0	D	0.97110	1.0	T	0.41520	-0.9504	9	0.52906	T	0.07	.	13.3331	0.60500	0.0:0.0:0.6267:0.3733	.	167	Q96RD2	O52B2_HUMAN	W	167	ENSP00000432011:R167W	ENSP00000432011:R167W	R	-	1	2	OR52B2	6147634	0.000000	0.05858	0.999000	0.59377	0.991000	0.79684	0.117000	0.15583	1.486000	0.48398	0.551000	0.68910	CGG	OR52B2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255307		0.488	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B2	HGNC	protein_coding	OTTHUMT00000385977.1		0	34	0	G	NM_001004052		6191058	-1			no_errors	ENST00000530810	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.998	A	A	6191058	G	A	6191058	3	1	10	1	0	0	0	0	1	0	0	0	11150	1086	38	1	475	1	OR52B2	11	6191058	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1598352	6191058	128815458	157	2778											
SYT9	143425	genome.wustl.edu	37	chr11	7335091	7335091	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcatgacttaatcggccaAgtggtggtggatcacttcct	8	12	11	10	2	2	1	2	1	0	0	4	2	3	2	2	4	0	0	2	4	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:7335091A>G	ENST00000318881.6	+	3	1200	c.963A>G	c.(961-963)caA>caG	p.Q321Q	SYT9_ENST00000396716.2_Silent_p.Q289Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	321	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TAATCGGCCAAGTGGTGGTGG	0.463																																																	0													180	177	178					11																	7335091		2201	4296	6497	SO:0001819	synonymous_variant	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.963A>G	11.37:g.7335091A>G				Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.Q321	ENST00000318881.6	37	c.963	CCDS7778.1	11																																																																																			SYT9	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000170743		0.463	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	-	0	62	0	A	NM_175733		7335091	1	tier1	-	no_errors	ENST00000318881	ensembl	human	known	74_37	silent	59.04	34	49	SNP	0.993	G	G	7335091	A	G	7335091	2	3	10	1	0	0	0	0	0	0	0	1	15528	69	3	4		4	SYT9	11	7335091	Silent	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	1144033	7335091	127671425	158	2779											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18158959	18158959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatcctcaacctggtcgcGgccgacttcctcttccttag	6	12	7	16	3	2	0	1	0	1	0	6	1	5	0	5	2	2	0	5	2	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:18158959G>A	ENST00000396275.2	+	3	571	c.210G>A	c.(208-210)gcG>gcA	p.A70A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCTGGTCGCGGCCGACTTCC	0.562																																																	0													99	94	96					11																	18158959		2200	4293	6493	SO:0001819	synonymous_variant	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.210G>A	11.37:g.18158959G>A			B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A70	ENST00000396275.2	37	c.210	CCDS7830.1	11																																																																																			MRGPRX3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179826		0.562	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	-	0	35	0	G	NM_054031		18158959	1	tier1	-	no_errors	ENST00000396275	ensembl	human	known	74_37	silent	65.85	14	27	SNP	0.022	A	A	18158959	G	A	18158959	2	1	10	1	0	0	0	0	0	0	0	1	9806	1103	39	1		1	MRGPRX3	11	18158959	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	10823868	18158959	116847557	159	2780											
SLC6A5	9152	genome.wustl.edu	37	chr11	20652269	20652269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcacctgcaccaacagtgCcacaagcatctttgccggct	9	9	8	15	1	2	0	1	0	1	0	2	0	2	0	4	1	5	3	4	1	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:20652269C>A	ENST00000525748.1	+	10	1805	c.1532C>A	c.(1531-1533)gCc>gAc	p.A511D	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	511					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACCAACAGTGCCACAAGCATC	0.502																																																	0													229	194	206					11																	20652269		2203	4300	6503	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1532C>A	11.37:g.20652269C>A	ENSP00000434364:p.Ala511Asp		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A511D	ENST00000525748.1	37	c.1532	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312638	0.81358	.	.	ENSG00000165970	ENST00000525748	T	0.75367	-0.93	5.57	5.57	0.84162	.	0.206198	0.50627	D	0.000104	D	0.87501	0.6193	M	0.87971	2.92	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	D	0.89127	0.3507	10	0.72032	D	0.01	.	19.54	0.95270	0.0:1.0:0.0:0.0	.	511	Q9Y345	SC6A5_HUMAN	D	511	ENSP00000434364:A511D	ENSP00000434364:A511D	A	+	2	0	SLC6A5	20608845	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.951000	0.56684	2.618000	0.88619	0.655000	0.94253	GCC	SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000165970		0.502	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0	45	0	C	NM_004211		20652269	1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	20652269	C	A	20652269	3	1	10	1	0	0	0	0	1	0	0	0	14732	739	26	3	1570	3	SLC6A5	11	20652269	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	2493310	20652269	114354247	160	2781											
ZNF408	79797	genome.wustl.edu	37	chr11	46726045	46726045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgacgtggatgaggaatgCccggcccaggcacagatgcc	9	4	16	12	3	0	2	0	1	0	1	0	5	0	4	3	5	2	1	3	5	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:46726045C>T	ENST00000311764.2	+	5	1025	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGAGGAATGCCCGGCCCAGG	0.577																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													81	66	71					11																	46726045		2201	4299	6500	SO:0001819	synonymous_variant	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.795C>T	11.37:g.46726045C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C265	ENST00000311764.2	37	c.795	CCDS7923.1	11																																																																																			ZNF408	-	NULL	ENSG00000175213		0.577	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2		0	36	0	C	NM_024741		46726045	1			no_errors	ENST00000311764	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.015	T	T	46726045	C	T	46726045	2	4	10	1	0	0	0	0	0	0	0	1	17936	747	26	3		3	ZNF408	11	46726045	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	26073776	46726045	88280471	161	2782											
MYBPC3	4607	genome.wustl.edu	37	chr11	47364637	47364637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtaggctgcgtcgtccGccaatgagcactggctgatg	7	9	14	11	3	0	2	0	2	0	0	2	2	1	2	2	3	2	4	2	3	2	1	rs370412052	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:47364637G>A	ENST00000545968.1	-	15	1340	c.1286C>T	c.(1285-1287)gCg>gTg	p.A429V	MYBPC3_ENST00000256993.4_Missense_Mutation_p.A428V|MYBPC3_ENST00000399249.2_Missense_Mutation_p.A429V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	429	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A429V(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGCGTCGTCCGCCAATGAGCA	0.622													G|||	2	0.000399361	0.0015	0	5008	,	,		16846	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	breast(1)						G	VAL/ALA	5,4253		0,5,2124	36	42	40		1286	4.7	1	11		40	0,8500		0,0,4250	no	missense	MYBPC3	NM_000256.3	64	0,5,6374	AA,AG,GG		0.0,0.1174,0.0392	possibly-damaging	429/1275	47364637	5,12753	2129	4250	6379	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1286C>T	11.37:g.47364637G>A	ENSP00000442795:p.Ala429Val		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A429V	ENST00000545968.1	37	c.1286	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714969	0.68844	0.001174	0.0	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.43688	0.94;0.94;0.94	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54240	0.1846	M	0.81239	2.535	0.53688	D	0.999979	P	0.50819	0.939	P	0.46419	0.516	T	0.65162	-0.6235	9	0.72032	D	0.01	.	17.4682	0.87639	0.0:0.0:1.0:0.0	.	428	Q14896	MYPC3_HUMAN	V	429;429;428	ENSP00000442795:A429V;ENSP00000382193:A429V;ENSP00000256993:A428V	ENSP00000256993:A428V	A	-	2	0	MYBPC3	47321213	1.000000	0.71417	0.957000	0.39632	0.154000	0.21943	5.047000	0.64232	2.449000	0.82847	0.462000	0.41574	GCG	MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134571		0.622	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	71	0	G			47364637	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	55.93	26	33	SNP	1.000	A	A	47364637	G	A	47364637	3	1	10	1	0	0	0	0	1	0	0	0	10051	1087	38	1	2618	1	MYBPC3	11	47364637	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	638592	47364637	87641879	162	2783											
CNTN5	53942	genome.wustl.edu	37	chr11	99715909	99715909	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attataagcaatccaagtgaAgcaaaggattctggtcatta	16	11	8	6	0	2	1	1	1	1	0	3	2	3	2	1	2	2	2	1	2	7	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:99715909A>C	ENST00000524871.1	+	6	782	c.492A>C	c.(490-492)gaA>gaC	p.E164D	CNTN5_ENST00000528682.1_Missense_Mutation_p.E164D|CNTN5_ENST00000527185.1_Missense_Mutation_p.E164D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E90D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E164D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	164	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATCCAAGTGAAGCAAAGGATT	0.383																																																	0													131	124	126					11																	99715909		1855	4105	5960	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.492A>C	11.37:g.99715909A>C	ENSP00000435637:p.Glu164Asp		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E164D	ENST00000524871.1	37	c.492	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659809	0.67586	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.53	1.96	0.26148	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.173798	0.49305	D	0.000151	T	0.65217	0.2670	L	0.28115	0.83	0.35030	D	0.758748	D;D;D	0.61080	0.961;0.983;0.989	P;P;P	0.60886	0.751;0.754;0.88	T	0.71073	-0.4698	10	0.72032	D	0.01	.	9.2231	0.37388	0.6287:0.0:0.3713:0.0	.	164;90;164	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	D	164;164;164;90;164	ENSP00000433575:E164D;ENSP00000436185:E164D;ENSP00000435637:E164D;ENSP00000393229:E90D;ENSP00000279463:E164D	ENSP00000279463:E164D	E	+	3	2	CNTN5	99221119	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	3.460000	0.53028	0.082000	0.17018	-0.256000	0.11100	GAA	CNTN5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.383	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	53	0	A	NM_014361		99715909	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	40.35	34	23	SNP	0.472	C	C	99715909	A	C	99715909	3	2	10	1	0	0	0	0	1	0	0	0	3651	69	3	4	506	4	CNTN5	11	99715909	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	52351272	99715909	35290607	163	2784											
C2CD2L	9854	genome.wustl.edu	37	chr11	118984833	118984833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctatccctgggctatgCggcatccctggaagcctcag	6	8	13	14	2	1	0	1	0	0	0	3	1	3	1	3	4	2	3	3	4	3	2	rs201072240	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:118984833C>T	ENST00000528586.1	+	9	981	c.911C>T	c.(910-912)gCg>gTg	p.A304V	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A557V			O14523	C2C2L_HUMAN	C2CD2-like	556						integral component of membrane (GO:0016021)		p.A557V(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTGGGCTATGCGGCATCCCTG	0.612													C|||	2	0.000399361	0	0	5008	,	,		18524	0.001		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(1)|prostate(1)											109	110	109					11																	118984833		2200	4295	6495	SO:0001583	missense	0			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.911C>T	11.37:g.118984833C>T	ENSP00000433600:p.Ala304Val		Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_dom	p.A557V	ENST00000528586.1	37	c.1670		11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.6	4.548263	0.86127	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.49432	0.78;0.78	5.11	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.61703	1.905	0.48135	D	0.999593	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59490	-0.7445	10	0.46703	T	0.11	1.7815	9.4646	0.38804	0.1429:0.7824:0.0:0.0747	.	556;557	O14523;O14523-2	C2C2L_HUMAN;.	V	557;304	ENSP00000338885:A557V;ENSP00000433600:A304V	ENSP00000338885:A557V	A	+	2	0	C2CD2L	118490043	0.996000	0.38824	0.983000	0.44433	0.991000	0.79684	3.316000	0.51960	0.813000	0.34350	0.655000	0.94253	GCG	C2CD2L	-	NULL	ENSG00000172375		0.612	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2		0	32	0	C	NM_014807		118984833	1			no_errors	ENST00000336702	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.992	T	T	118984833	C	T	118984833	3	4	10	1	0	0	0	0	1	0	0	0	2160	768	27	1	1720	1	C2CD2L	11	118984833	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	19268924	118984833	16021683	164	2785											
SORL1	6653	genome.wustl.edu	37	chr11	121476267	121476267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgactttgtgaccctgagGaccccagagggatgtaagtg	11	9	13	8	0	0	4	0	3	0	1	0	6	0	6	3	2	0	1	3	2	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:121476267G>A	ENST00000260197.7	+	35	5064	c.4935G>A	c.(4933-4935)agG>agA	p.R1645R	SORL1_ENST00000527934.1_Silent_p.R260R|SORL1_ENST00000525532.1_Silent_p.R589R|SORL1_ENST00000534286.1_Silent_p.R555R|SORL1_ENST00000532694.1_Silent_p.R491R	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1645	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGACCCTGAGGACCCCAGAGG	0.448																																																	0													173	162	165					11																	121476267		2203	4299	6502	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4935G>A	11.37:g.121476267G>A			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R1645	ENST00000260197.7	37	c.4935	CCDS8436.1	11																																																																																			SORL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000137642		0.448	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0	55	0	G	NM_003105		121476267	1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	silent	52.17	22	24	SNP	1.000	A	A	121476267	G	A	121476267	2	1	10	1	0	0	0	0	0	0	0	1	14979	1165	41	3		3	SORL1	11	121476267	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	2491434	121476267	13530249	165	2786											
OR10G8	219869	genome.wustl.edu	37	chr11	123900543	123900543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcattgacatgtggttcTccactgtcacggtgcccaaa	8	12	9	12	2	3	1	2	1	1	0	4	1	3	1	2	2	1	2	2	2	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:123900543T>C	ENST00000431524.1	+	1	247	c.214T>C	c.(214-216)Tcc>Ccc	p.S72P		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATGTGGTTCTCCACTGTCAC	0.517																																																	0													249	201	217					11																	123900543		2201	4299	6500	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.214T>C	11.37:g.123900543T>C	ENSP00000389072:p.Ser72Pro		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S72P	ENST00000431524.1	37	c.214	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073490	0.36566	.	.	ENSG00000234560	ENST00000431524	T	0.00832	5.64	2.95	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000174	T	0.04003	0.0112	M	0.81802	2.56	0.28459	N	0.915964	D	0.76494	0.999	D	0.87578	0.998	T	0.09015	-1.0694	10	0.46703	T	0.11	.	5.7409	0.18094	0.3911:0.0:0.0:0.6089	.	72	Q8NGN5	O10G8_HUMAN	P	72	ENSP00000389072:S72P	ENSP00000389072:S72P	S	+	1	0	OR10G8	123405753	0.000000	0.05858	1.000000	0.80357	0.988000	0.76386	-0.219000	0.09228	1.337000	0.45525	0.477000	0.44152	TCC	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000234560		0.517	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0	131	0	T	NM_001004464		123900543	1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	36.96	58	34	SNP	0.987	C	C	123900543	T	C	123900543	3	2	10	1	0	0	0	0	1	0	0	0	10942	1551	54	4	216	4	OR10G8	11	123900543	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	2424276	123900543	11105973	166	2787											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128844131	128844131	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctggtccaggggctggacTtcagattcatatgcttcttg	7	13	11	10	0	3	1	2	0	1	1	4	2	4	2	2	4	1	2	2	4	1	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:128844131T>G	ENST00000310343.9	-	20	2918	c.2919A>C	c.(2917-2919)gaA>gaC	p.E973D	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E624D|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E624D|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E899D	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	973					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGGCTGGACTTCAGATTCAT	0.473																																																	0													185	194	191					11																	128844131		2201	4297	6498	SO:0001583	missense	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2919A>C	11.37:g.128844131T>G	ENSP00000310561:p.Glu973Asp		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E973D	ENST00000310343.9	37	c.2919	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	T	11.12	1.545081	0.27652	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.41	3.03	0.35002	.	0.430531	0.26605	N	0.023444	T	0.19685	0.0473	M	0.63843	1.955	0.20074	N	0.999936	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.19321	-1.0309	10	0.34782	T	0.22	.	7.2187	0.25975	0.0:0.0743:0.146:0.7797	.	907;973	Q86T64;A7KAX9	.;RHG32_HUMAN	D	973;624;899;907;624	ENSP00000310561:E973D;ENSP00000376425:E624D;ENSP00000432468:E899D;ENSP00000432862:E624D	ENSP00000310561:E973D	E	-	3	2	ARHGAP32	128349341	0.002000	0.14202	0.025000	0.17156	0.990000	0.78478	0.568000	0.23623	0.420000	0.25954	0.533000	0.62120	GAA	ARHGAP32	-	NULL	ENSG00000134909		0.473	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	32	0	T	NM_014715		128844131	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	missense	47.37	20	18	SNP	0.317	G	G	128844131	T	G	128844131	3	3	10	1	0	0	0	0	1	0	0	0	881	1606	56	4	3356	4	ARHGAP32	11	128844131	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	4943588	128844131	6162385	167	2788											
SNX19	399979	genome.wustl.edu	37	chr11	130785517	130785517	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatctcgaataatcatctgGatggtgcggttgatctcccg	10	12	10	9	3	4	1	1	1	3	0	6	3	4	2	1	3	1	1	1	3	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr11:130785517G>T	ENST00000265909.4	-	1	887	c.318C>A	c.(316-318)atC>atA	p.I106I	SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.I106I	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	106	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TAATCATCTGGATGGTGCGGT	0.542																																																	0													86	61	69					11																	130785517		2201	4297	6498	SO:0001819	synonymous_variant	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.318C>A	11.37:g.130785517G>T			E9PKB9|Q8IV55	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.I106	ENST00000265909.4	37	c.318	CCDS31721.1	11																																																																																			SNX19	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000120451		0.542	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	-	0	58	0	G	NM_014758		130785517	-1	tier1	-	no_errors	ENST00000265909	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	130785517	G	T	130785517	2	4	10	1	0	0	0	0	0	0	0	1	14935	1164	41	3		3	SNX19	11	130785517	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1941386	130785517	4220999	168	2789											
TAS2R10	50839	genome.wustl.edu	37	chr12	10978034	10978034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttagcttgctgtttcctaGaattaagataaatgagtgac	12	15	8	6	0	0	4	0	2	0	2	1	4	1	4	1	0	2	3	1	0	6	7			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:10978034G>A	ENST00000240619.2	-	1	923	c.835C>T	c.(835-837)Cta>Tta	p.L279L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	279					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGTTTCCTAGAATTAAGATA	0.413																																																	0													87	85	85					12																	10978034		2203	4299	6502	SO:0001819	synonymous_variant	0			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.835C>T	12.37:g.10978034G>A			Q3MIM9|Q6NTD9	Silent	SNP	pfam_TAS2_rcpt	p.L279	ENST00000240619.2	37	c.835	CCDS8634.1	12																																																																																			TAS2R10	-	pfam_TAS2_rcpt	ENSG00000121318		0.413	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R10	HGNC	protein_coding	OTTHUMT00000399934.1	-	0	53	0	G			10978034	-1	tier1	-	no_errors	ENST00000240619	ensembl	human	known	74_37	silent	41.51	31	22	SNP	0.992	A	A	10978034	G	A	10978034	2	1	10	1	0	0	0	0	0	0	0	1	15613	933	33	3		3	TAS2R10	12	10978034	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		10978034	122873861	169	2790											
GPRC5A	9052	genome.wustl.edu	37	chr12	13061392	13061392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgcctactcagtttcTcttcctcctgggtgtgttgg	4	16	10	11	0	2	0	1	0	1	0	5	0	4	0	3	2	3	3	3	2	2	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:13061392T>C	ENST00000014914.5	+	2	1099	c.209T>C	c.(208-210)cTc>cCc	p.L70P	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	70					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	ACTCAGTTTCTCTTCCTCCTG	0.582																																																	0													165	148	153					12																	13061392		2203	4300	6503	SO:0001583	missense	0			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"GPCR / Class C : Orphans"	9836	protein-coding gene	gene with protein product		604138	"retinoic acid induced 3", "G protein-coupled receptor, family C, group 5, member A"	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.209T>C	12.37:g.13061392T>C	ENSP00000014914:p.Leu70Pro		B3KV45|O95357	Missense_Mutation	SNP	pfam_GPCR_3_C	p.L70P	ENST00000014914.5	37	c.209	CCDS8657.1	12	.	.	.	.	.	.	.	.	.	.	T	16.26	3.071851	0.55646	.	.	ENSG00000013588	ENST00000014914;ENST00000534831	D;D	0.91577	-2.87;-2.87	5.63	5.63	0.86233	GPCR, family 3, C-terminal (1);	0.339438	0.28940	N	0.013654	D	0.94503	0.8230	M	0.74647	2.275	0.80722	D	1	D;D	0.65815	0.995;0.995	P;D	0.63283	0.876;0.913	D	0.95048	0.8184	10	0.87932	D	0	-1.446	15.8307	0.78749	0.0:0.0:0.0:1.0	.	70;70	Q8NFJ5;A8K556	RAI3_HUMAN;.	P	70	ENSP00000014914:L70P;ENSP00000441627:L70P	ENSP00000014914:L70P	L	+	2	0	GPRC5A	12952659	0.999000	0.42202	0.996000	0.52242	0.278000	0.26855	3.324000	0.52022	2.148000	0.66965	0.459000	0.35465	CTC	GPRC5A	-	pfam_GPCR_3_C	ENSG00000013588		0.582	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	HGNC	protein_coding	OTTHUMT00000400682.1	-	0	56	0	T			13061392	1	tier1	-	no_errors	ENST00000014914	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.995	C	C	13061392	T	C	13061392	3	2	10	1	0	0	0	0	1	0	0	0	6751	1551	54	4	211	4	GPRC5A	12	13061392	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	2083358	13061392	120790503	170	2791											
AMIGO2	91523	genome.wustl.edu	37	chr12	47471279	47471279	+	5'Flank	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgaatctgagtcagattTccccctcgtggactttagga	9	12	10	10	1	2	3	1	2	1	1	4	6	3	5	2	2	0	0	2	2	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:47471279T>C	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.K503E|AMIGO2_ENST00000266581.4_Missense_Mutation_p.K503E|AMIGO2_ENST00000550413.1_Missense_Mutation_p.K503E|AMIGO2_ENST00000321382.3_Missense_Mutation_p.K503E			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										GAGTCAGATTTCCCCCTCGTG	0.468																																																	0													70	67	68					12																	47471279		2203	4300	6503	SO:0001631	upstream_gene_variant	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"family with sequence similarity 113, member B"	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471279T>C	Exception_encountered		Q96B20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom	p.K503E	ENST00000546455.1	37	c.1507	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146625	0.77888	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.09	5.09	0.68999	.	0.280929	0.35124	N	0.003424	T	0.66829	0.2829	M	0.72894	2.215	0.58432	D	0.999993	D	0.89917	1.0	D	0.80764	0.994	T	0.68318	-0.5440	10	0.48119	T	0.1	-15.8743	14.7537	0.69546	0.0:0.0:0.0:1.0	.	503	Q86SJ2	AMGO2_HUMAN	E	503	ENSP00000266581:K503E;ENSP00000449034:K503E;ENSP00000406020:K503E;ENSP00000320848:K503E	ENSP00000266581:K503E	K	-	1	0	AMIGO2	45757546	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	7.485000	0.81204	2.215000	0.71742	0.459000	0.35465	AAA	AMIGO2	-	NULL	ENSG00000139211		0.468	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO2	HGNC	protein_coding	OTTHUMT00000405079.1	-	0	29	0	T	NM_138371		47471279	-1	tier1	-	no_errors	ENST00000266581	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	C	C	47471279	T	C	47471279	1	2	10	0	1	0	0	0	0	0	0	0	576	1792	62	4		4	AMIGO2	12	47471279	5'Flank	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	34409887	47471279	86380616	171	2792											
KRT6B	3854	genome.wustl.edu	37	chr12	52845660	52845660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctccaatggagatcctcTtggagccccccaggccatac	8	7	8	18	0	1	1	0	0	1	1	3	3	3	2	8	3	2	0	8	3	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:52845660T>C	ENST00000252252.3	-	1	250	c.203A>G	c.(202-204)aAg>aGg	p.K68R		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	68	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.K68R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGAGATCCTCTTGGAGCCCCC	0.652																																																	1	Substitution - Missense(1)	ovary(1)											16	19	18					12																	52845660		1928	3912	5840	SO:0001583	missense	0			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.203A>G	12.37:g.52845660T>C	ENSP00000252252:p.Lys68Arg		P48669	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.K68R	ENST00000252252.3	37	c.203	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	T	0.495	-0.873352	0.02570	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.75260	-0.92	3.07	0.622	0.17648	.	0.502462	0.19667	N	0.108842	T	0.54902	0.1887	L	0.39326	1.205	0.28661	N	0.906116	B	0.06786	0.001	B	0.04013	0.001	T	0.32640	-0.9899	10	0.09084	T	0.74	.	4.1344	0.10164	0.0:0.1926:0.1781:0.6292	.	68	P04259	K2C6B_HUMAN	R	68	ENSP00000252252:K68R	ENSP00000252252:K68R	K	-	2	0	KRT6B	51131927	.	.	0.998000	0.56505	0.381000	0.30169	.	.	0.131000	0.18576	0.248000	0.18094	AAG	KRT6B	-	NULL	ENSG00000185479		0.652	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	-	0	119	0	T	NM_005555		52845660	-1	tier1	-	no_errors	ENST00000252252	ensembl	human	known	74_37	missense	9.09	110	11	SNP	0.999	C	C	52845660	T	C	52845660	3	2	10	1	0	0	0	0	1	0	0	0	8508	1609	56	4	1527	4	KRT6B	12	52845660	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	5374381	52845660	81006235	172	2793											
CSAD	51380	genome.wustl.edu	37	chr12	53567224	53567224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagccactgggtccccagCaagggaggggagtgcttctg	8	6	15	12	0	1	0	0	0	1	0	2	2	2	2	3	4	3	2	3	4	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:53567224C>A	ENST00000444623.1	-	4	298	c.31G>T	c.(31-33)Gct>Tct	p.A11S	CSAD_ENST00000267085.4_Missense_Mutation_p.A38S|CSAD_ENST00000379846.1_Missense_Mutation_p.A11S|CSAD_ENST00000453446.2_Missense_Mutation_p.A11S|CSAD_ENST00000542115.1_Missense_Mutation_p.A11S|CSAD_ENST00000379843.3_Missense_Mutation_p.A11S|CSAD_ENST00000491654.1_5'UTR	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	11					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	GGGTCCCCAGCAAGGGAGGGG	0.587																																					Ovarian(109;252 1546 16882 28524 44645)												0													77	71	73					12																	53567224		2203	4300	6503	SO:0001583	missense	0			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.31G>T	12.37:g.53567224C>A	ENSP00000415485:p.Ala11Ser		A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.A38S	ENST00000444623.1	37	c.112	CCDS58235.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.982|3.982	-0.006289|-0.006289	0.07773|0.07773	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000379843;ENST00000267085;ENST00000544139;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698;ENST00000542115;ENST00000437073;ENST00000424990|ENST00000379850	T;T;T;T;T;T;T;T;T|.	0.25414|.	2.45;2.87;2.45;2.89;2.89;1.8;2.29;2.28;2.29|.	5.08|5.08	4.19|4.19	0.49359|0.49359	.|.	0.681670|.	0.15058|.	N|.	0.282893|.	T|T	0.21062|0.21062	0.0507|0.0507	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.15473|.	0.012;0.003;0.002;0.013|.	B;B;B;B|.	0.21917|.	0.019;0.027;0.012;0.037|.	T|T	0.18241|0.18241	-1.0343|-1.0343	10|5	0.09084|.	T|.	0.74|.	-6.1194|-6.1194	11.3183|11.3183	0.49405|0.49405	0.0:0.9144:0.0:0.0855|0.0:0.9144:0.0:0.0855	.|.	11;38;11;11|.	B4DL84;Q9Y600-3;Q9Y600;Q9Y600-2|.	.;.;CSAD_HUMAN;.|.	S|F	100;11;38;11;11;11;11;11;11;11;11;11|36	ENSP00000369172:A11S;ENSP00000267085:A38S;ENSP00000369175:A11S;ENSP00000415485:A11S;ENSP00000410648:A11S;ENSP00000449373:A11S;ENSP00000439419:A11S;ENSP00000415314:A11S;ENSP00000401078:A11S|.	ENSP00000267085:A38S|.	A|C	-|-	1|2	0|0	CSAD|CSAD	51853491|51853491	0.619000|0.619000	0.27059|0.27059	0.270000|0.270000	0.24601|0.24601	0.014000|0.014000	0.08584|0.08584	0.940000|0.940000	0.28992|0.28992	1.530000|1.530000	0.49136|0.49136	-0.150000|-0.150000	0.13652|0.13652	GCT|TGC	CSAD	-	NULL	ENSG00000139631		0.587	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1	-	0	44	0	C	NM_015989		53567224	-1	tier1	-	no_errors	ENST00000267085	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.253	A	A	53567224	C	A	53567224	3	1	10	1	0	0	0	0	1	0	0	0	3932	710	25	3	1506	3	CSAD	12	53567224	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	721564	53567224	80284671	173	2794											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72004484	72004484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcattacatctttccaCagtgatgcacaaagaggtaa	17	9	7	8	0	1	2	0	1	1	1	2	2	2	2	1	1	3	3	1	1	5	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:72004484C>T	ENST00000378743.3	-	34	6181	c.5823G>A	c.(5821-5823)ctG>ctA	p.L1941L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1941					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCTTTCCACAGTGATGCAC	0.338																																																	0													81	72	75					12																	72004484		1838	4084	5922	SO:0001819	synonymous_variant	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5823G>A	12.37:g.72004484C>T			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.L1941	ENST00000378743.3	37	c.5823	CCDS41813.1	12																																																																																			ZFC3H1	-	smart_HAT	ENSG00000133858		0.338	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	-	0	26	0	C	NM_144982		72004484	-1	tier1	-	no_errors	ENST00000378743	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	T	T	72004484	C	T	72004484	2	4	10	1	0	0	0	0	0	0	0	1	17681	465	17	3		3	ZFC3H1	12	72004484	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	18437260	72004484	61847411	174	2795											
TRHDE	29953	genome.wustl.edu	37	chr12	73012730	73012730	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatacctgtctgaggagaAggattttcttccttggcatg	9	13	11	8	0	2	3	0	1	2	2	3	5	3	4	2	3	1	1	2	3	2	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:73012730A>C	ENST00000261180.4	+	13	2342	c.2246A>C	c.(2245-2247)aAg>aCg	p.K749T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	749					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TCTGAGGAGAAGGATTTTCTT	0.378																																																	0													56	61	60					12																	73012730		2202	4298	6500	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2246A>C	12.37:g.73012730A>C	ENSP00000261180:p.Lys749Thr		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.K749T	ENST00000261180.4	37	c.2246	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	A	9.597	1.127568	0.20959	.	.	ENSG00000072657	ENST00000261180	T	0.03951	3.75	5.77	5.77	0.91146	.	0.050579	0.85682	D	0.000000	T	0.02380	0.0073	N	0.02379	-0.575	0.45284	D	0.998289	B	0.12630	0.006	B	0.11329	0.006	T	0.47018	-0.9149	10	0.07175	T	0.84	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	749	Q9UKU6	TRHDE_HUMAN	T	749	ENSP00000261180:K749T	ENSP00000261180:K749T	K	+	2	0	TRHDE	71298997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.173000	0.58249	2.326000	0.78906	0.533000	0.62120	AAG	TRHDE	-	NULL	ENSG00000072657		0.378	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1		0	35	0	A	NM_013381		73012730	1			no_errors	ENST00000261180	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	C	C	73012730	A	C	73012730	3	2	10	1	0	0	0	0	1	0	0	0	16527	72	3	4	2296	4	TRHDE	12	73012730	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	1008246	73012730	60839165	175	2796											
SYT1	6857	genome.wustl.edu	37	chr12	79611436	79611436	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttctaagctgaaggagaAgtttatgaatgagttgcata	14	14	10	3	0	1	4	0	3	1	1	1	5	1	4	0	1	2	4	0	1	6	7			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:79611436A>C	ENST00000261205.4	+	4	794	c.137A>C	c.(136-138)aAg>aCg	p.K46T	SYT1_ENST00000457153.2_Missense_Mutation_p.K46T|SYT1_ENST00000393240.3_Missense_Mutation_p.K46T|SYT1_ENST00000552744.1_Missense_Mutation_p.K46T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	46					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGAAGGAGAAGTTTATGAAT	0.423																																																	0													75	76	75					12																	79611436		2203	4300	6503	SO:0001583	missense	0				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.137A>C	12.37:g.79611436A>C	ENSP00000261205:p.Lys46Thr		Q6AI31	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.K46T	ENST00000261205.4	37	c.137	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460561	0.84317	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	M	0.73962	2.25	0.80722	D	1	P;P	0.43094	0.799;0.799	B;B	0.40901	0.343;0.343	T	0.54563	-0.8275	10	0.54805	T	0.06	.	15.601	0.76626	1.0:0.0:0.0:0.0	.	46;46	Q6AI31;P21579	.;SYT1_HUMAN	T	46	ENSP00000376932:K46T;ENSP00000261205:K46T;ENSP00000391056:K46T;ENSP00000447035:K46T;ENSP00000447575:K46T;ENSP00000448861:K46T;ENSP00000401559:K46T	ENSP00000261205:K46T	K	+	2	0	SYT1	78135567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.433000	0.90291	2.084000	0.62774	0.519000	0.50382	AAG	SYT1	-	NULL	ENSG00000067715		0.423	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	HGNC	protein_coding	OTTHUMT00000259415.1	-	0	56	0	A	NM_005639		79611436	1	tier1	-	no_errors	ENST00000261205	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	C	C	79611436	A	C	79611436	3	2	10	1	0	0	0	0	1	0	0	0	15512	72	3	4	139	4	SYT1	12	79611436	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	6598706	79611436	54240459	176	2797											
C12orf64	283310	genome.wustl.edu	37	chr12	80729902	80729902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaacagtgatatctgctgcCctgagtgggaatgtccttgt	8	13	12	8	0	1	3	0	3	1	0	2	4	2	4	2	1	3	1	2	1	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:80729902C>T	ENST00000547103.1	+	38	4525	c.4519C>T	c.(4519-4521)Cct>Tct	p.P1507S	OTOGL_ENST00000458043.2_Missense_Mutation_p.P1519S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1507					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATCTGCTGCCCTGAGTGGGA	0.413																																																	0													101	94	96					12																	80729902		1918	4119	6037	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4519C>T	12.37:g.80729902C>T	ENSP00000447211:p.Pro1507Ser		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.P1519S	ENST00000547103.1	37	c.4555		12	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110424	0.77210	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.16324	2.35;2.36	5.03	5.03	0.67393	.	.	.	.	.	T	0.27454	0.0674	L	0.52905	1.665	0.42638	D	0.9934	.	.	.	.	.	.	T	0.02326	-1.1176	7	0.10377	T	0.69	.	18.7143	0.91670	0.0:1.0:0.0:0.0	.	.	.	.	S	1507;1519	ENSP00000447211:P1507S;ENSP00000400895:P1519S	ENSP00000400895:P1519S	P	+	1	0	OTOGL	79254033	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.805000	0.75191	2.486000	0.83907	0.555000	0.69702	CCT	OTOGL	-	smart_VWF_type-D	ENSG00000165899		0.413	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0	56	0	C	NM_173591		80729902	1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	10.81	66	8	SNP	1.000	T	T	80729902	C	T	80729902	3	4	10	1	0	0	0	0	1	0	0	0	1712	623	22	3	4705	3	C12orf64	12	80729902	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	1118466	80729902	53121993	177	2798											
PPFIA2	8499	genome.wustl.edu	37	chr12	81671098	81671098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagaaagatatattacctTttatttcatgttggcttgct	12	17	7	5	0	1	2	1	0	0	2	1	3	1	2	1	1	2	3	1	1	6	8			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:81671098T>C	ENST00000549396.1	-	28	3468	c.3308A>G	c.(3307-3309)aAa>aGa	p.K1103R	PPFIA2_ENST00000548586.1_Missense_Mutation_p.K1097R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K639R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K998R|PPFIA2_ENST00000541017.1_Missense_Mutation_p.K289R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K950R|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.K1088R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K1091R|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K1082R|PPFIA2_ENST00000550584.2_Missense_Mutation_p.K1103R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K1002R	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1103					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATATTACCTTTTATTTCATG	0.303																																																	0													117	109	111					12																	81671098		1807	4051	5858	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3308A>G	12.37:g.81671098T>C	ENSP00000450337:p.Lys1103Arg		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.K1103R	ENST00000549396.1	37	c.3308	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813864	0.32053	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.95	5.95	0.96441	Sterile alpha motif/pointed domain (2);	0.115273	0.64402	D	0.000016	T	0.32376	0.0827	L	0.28192	0.835	0.42125	D	0.991445	B	0.06786	0.001	B	0.04013	0.001	T	0.08229	-1.0732	10	0.25106	T	0.35	-14.4485	16.0799	0.81000	0.0:0.0:0.0:1.0	.	1103	O75334	LIPA2_HUMAN	R	1103;1088;639;289;1002;1114;1091;1097;998;1082	ENSP00000450337:K1103R;ENSP00000450298:K1088R;ENSP00000438337:K639R;ENSP00000445532:K289R;ENSP00000385093:K1002R;ENSP00000327416:K1091R;ENSP00000449338:K1097R;ENSP00000388373:K998R;ENSP00000447868:K1082R	ENSP00000327416:K1091R	K	-	2	0	PPFIA2	80195229	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.385000	0.59613	2.278000	0.76064	0.533000	0.62120	AAA	PPFIA2	-	superfamily_SAM/pointed	ENSG00000139220		0.303	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	61	0	T			81671098	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	C	C	81671098	T	C	81671098	3	2	10	1	0	0	0	0	1	0	0	0	12349	1841	64	4	485	4	PPFIA2	12	81671098	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	941196	81671098	52180797	178	2799											
PLBD2	196463	genome.wustl.edu	37	chr12	113806984	113806984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcaggcctatgcagcCggtgtggtggaggctgctgt	5	10	17	9	1	0	0	0	0	0	0	0	1	0	1	2	5	5	5	2	5	1	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:113806984C>T	ENST00000280800.3	+	2	385	c.354C>T	c.(352-354)gcC>gcT	p.A118A	PLBD2_ENST00000545182.2_Silent_p.A118A	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	118					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTATGCAGCCGGTGTGGTGG	0.632																																																	0													57	49	52					12																	113806984		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.354C>T	12.37:g.113806984C>T			F5H5E2	Silent	SNP	pfam_PLipase_B-like	p.A118	ENST00000280800.3	37	c.354	CCDS9168.1	12																																																																																			PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.632	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	-	0	51	0	C	NM_173542		113806984	1	tier1	-	no_errors	ENST00000280800	ensembl	human	known	74_37	silent	58.33	20	28	SNP	0.603	T	T	113806984	C	T	113806984	2	4	10	1	0	0	0	0	0	0	0	1	12065	639	23	1		1	PLBD2	12	113806984	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	32135886	113806984	20044911	179	2800											
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123648514	123648514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttggagtacttgatttaCgatttgaaggtggtaaagat	12	15	11	3	1	0	3	0	2	0	1	0	5	0	4	0	3	3	2	0	3	6	8	rs369222808		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:123648514C>T	ENST00000606320.1	-	19	3097	c.2891G>A	c.(2890-2892)cGt>cAt	p.R964H	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R812H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R934H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R812H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	964						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R812H(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		ACTTGATTTACGATTTGAAGG	0.418																																																	1	Substitution - Missense(1)	prostate(1)						C	HIS/ARG	0,4406		0,0,2203	179	163	168		2435	4.8	0.1	12		168	1,8599	1.2+/-3.3	0,1,4299	no	missense	MPHOSPH9	NM_022782.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	812/1032	123648514	1,13005	2203	4300	6503	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2891G>A	12.37:g.123648514C>T	ENSP00000475489:p.Arg964His		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.R812H	ENST00000606320.1	37	c.2435		12	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594156	0.46214	0.0	1.16E-4	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.41758	0.99;1.01	5.72	4.83	0.62350	.	0.132417	0.48286	D	0.000199	T	0.38295	0.1035	M	0.70275	2.135	0.58432	D	0.999996	P	0.41710	0.76	B	0.29663	0.105	T	0.46541	-0.9184	10	0.87932	D	0	-14.6958	12.8836	0.58030	0.0:0.9237:0.0:0.0763	.	812	Q99550	MPP9_HUMAN	H	812	ENSP00000303597:R812H;ENSP00000445859:R812H	ENSP00000303597:R812H	R	-	2	0	MPHOSPH9	122214467	0.998000	0.40836	0.053000	0.19242	0.299000	0.27559	4.695000	0.61767	1.423000	0.47198	0.467000	0.42956	CGT	MPHOSPH9	-	NULL	ENSG00000051825		0.418	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	-	0	30	0	C			123648514	-1	tier1	-	no_errors	ENST00000392425	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.270	T	T	123648514	C	T	123648514	3	4	10	1	0	0	0	0	1	0	0	0	9766	536	19	1	684	1	MPHOSPH9	12	123648514	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	9841530	123648514	10203381	180	2801											
GPR133	283383	genome.wustl.edu	37	chr12	131488770	131488770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgcccaagaccgtgaattCctcccattaccgcttcccgg	7	9	7	18	3	0	2	0	1	0	1	3	2	3	2	7	1	2	1	7	1	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr12:131488770C>T	ENST00000261654.5	+	11	1743	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	GPR133_ENST00000376682.4_Missense_Mutation_p.S81F|GPR133_ENST00000535015.1_Missense_Mutation_p.S427F	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	395					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACCGTGAATTCCTCCCATTAC	0.612																																																	0													87	76	80					12																	131488770		2203	4300	6503	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1184C>T	12.37:g.131488770C>T	ENSP00000261654:p.Ser395Phe		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S395F	ENST00000261654.5	37	c.1184	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	C	4.208	0.037299	0.08148	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.40756	1.05;1.05;1.02	4.95	0.627	0.17675	.	0.940610	0.08950	N	0.870251	T	0.25306	0.0615	L	0.31926	0.97	0.09310	N	1	B;B	0.17465	0.01;0.022	B;B	0.11329	0.002;0.006	T	0.29397	-1.0013	10	0.09843	T	0.71	.	3.9914	0.09538	0.0:0.4992:0.1751:0.3257	.	427;395	B7ZLF7;Q6QNK2	.;GP133_HUMAN	F	395;427;86;91;81	ENSP00000261654:S395F;ENSP00000444425:S427F;ENSP00000365872:S81F	ENSP00000261654:S395F	S	+	2	0	GPR133	130054723	0.000000	0.05858	0.048000	0.18961	0.003000	0.03518	0.471000	0.22100	0.053000	0.16036	-0.424000	0.05967	TCC	GPR133	-	NULL	ENSG00000111452		0.612	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	-	0	58	0	C	NM_198827		131488770	1	tier1	-	no_errors	ENST00000261654	ensembl	human	known	74_37	missense	34.38	42	22	SNP	0.001	T	T	131488770	C	T	131488770	3	4	10	1	0	0	0	0	1	0	0	0	6669	855	30	3	1226	3	GPR133	12	131488770	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	7840256	131488770	2363125	181	2802											
FREM2	341640	genome.wustl.edu	37	chr13	39264447	39264447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcttggaagatccacCtttgtatggggaaatcttgg	8	15	10	8	0	2	1	0	0	2	1	4	3	4	3	3	4	0	1	3	4	3	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:39264447C>A	ENST00000280481.7	+	1	3182	c.2966C>A	c.(2965-2967)cCt>cAt	p.P989H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	989					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAGATCCACCTTTGTATGGG	0.448																																																	0													126	130	129					13																	39264447		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2966C>A	13.37:g.39264447C>A	ENSP00000280481:p.Pro989His		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P989H	ENST00000280481.7	37	c.2966	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771891	0.69992	.	.	ENSG00000150893	ENST00000280481	T	0.26223	1.75	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73607	-0.3929	10	0.87932	D	0	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	989	Q5SZK8	FREM2_HUMAN	H	989	ENSP00000280481:P989H	ENSP00000280481:P989H	P	+	2	0	FREM2	38162447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.814000	0.86154	2.755000	0.94549	0.655000	0.94253	CCT	FREM2	-	NULL	ENSG00000150893		0.448	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	40	0	C	NM_207361		39264447	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	39264447	C	A	39264447	3	1	10	1	0	0	0	0	1	0	0	0	6069	681	24	3	2968	3	FREM2	13	39264447	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09		39264447	75905431	182	2803											
TSC22D1	8848	genome.wustl.edu	37	chr13	45149652	45149652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgggagagactgcccCaggtgtctcggcttcctgga	5	10	15	11	1	1	1	0	0	1	1	3	4	2	3	3	5	1	2	3	5	0	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:45149652C>T	ENST00000458659.2	-	1	1049	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	TSC22D1_ENST00000501704.2_Missense_Mutation_p.G187R|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	187					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GAGACTGCCCCAGGTGTCTCG	0.537																																																	0													72	73	73					13																	45149652		2203	4300	6503	SO:0001583	missense	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"transforming growth factor beta 1 induced transcript 4"	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.559G>A	13.37:g.45149652C>T	ENSP00000397435:p.Gly187Arg		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.G187R	ENST00000458659.2	37	c.559	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024687	0.54683	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T;T	0.25912	1.77;1.77	4.5	4.5	0.54988	.	0.000000	0.56097	D	0.000036	T	0.45736	0.1357	L	0.51422	1.61	0.58432	D	0.999999	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.859	T	0.43861	-0.9365	10	0.66056	D	0.02	.	15.9214	0.79580	0.0:1.0:0.0:0.0	.	187;187	B3KRL7;Q15714	.;T22D1_HUMAN	R	187	ENSP00000397435:G187R;ENSP00000437414:G187R	ENSP00000397435:G187R	G	-	1	0	TSC22D1	44047652	1.000000	0.71417	1.000000	0.80357	0.263000	0.26337	7.271000	0.78506	2.319000	0.78375	0.561000	0.74099	GGG	TSC22D1	-	NULL	ENSG00000102804		0.537	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	-	0	73	0	C	NM_006022		45149652	-1	tier1	-	no_errors	ENST00000458659	ensembl	human	known	74_37	missense	30.00	49	21	SNP	1.000	T	T	45149652	C	T	45149652	3	4	10	1	0	0	0	0	1	0	0	0	16655	594	21	3	2803	3	TSC22D1	13	45149652	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	5885205	45149652	70020226	183	2804											
PCDH17	27253	genome.wustl.edu	37	chr13	58208430	58208430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaacgcgccagtgatcGtgctccccacgctgcagaac	10	6	10	15	4	0	3	0	2	0	1	2	3	1	3	3	0	4	3	3	0	2	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:58208430G>A	ENST00000377918.3	+	1	1776	c.1750G>A	c.(1750-1752)Gtg>Atg	p.V584M		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	584					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCAGTGATCGTGCTCCCCAC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)												0													35	35	35					13																	58208430		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1750G>A	13.37:g.58208430G>A	ENSP00000367151:p.Val584Met		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V584M	ENST00000377918.3	37	c.1750	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750368	0.49257	.	.	ENSG00000118946	ENST00000377918	T	0.61274	0.12	5.63	5.63	0.86233	Cadherin-like (1);	0.111223	0.64402	D	0.000009	T	0.59418	0.2192	L	0.37561	1.115	0.37607	D	0.92079	D;P	0.57571	0.98;0.934	P;P	0.54100	0.742;0.557	T	0.60989	-0.7153	9	.	.	.	.	14.5038	0.67739	0.0:0.0:0.8533:0.1467	.	584;584	O14917-2;O14917	.;PCD17_HUMAN	M	584	ENSP00000367151:V584M	.	V	+	1	0	PCDH17	57106431	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.807000	0.62576	2.650000	0.89964	0.561000	0.74099	GTG	PCDH17	-	superfamily_Cadherin-like	ENSG00000118946		0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1		0	21	0	G	NM_001040429		58208430	1			no_errors	ENST00000377918	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	58208430	G	A	58208430	3	1	10	1	0	0	0	0	1	0	0	0	11551	1145	40	1	1752	1	PCDH17	13	58208430	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	13058778	58208430	56961448	184	2805											
PCDH9	5101	genome.wustl.edu	37	chr13	67802465	67802465	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtttcctatgggcacattTtcaggcaattcctctctaat	9	16	6	10	0	2	0	1	0	1	0	5	0	4	0	2	2	0	3	2	2	3	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:67802465T>G	ENST00000377865.2	-	1	242	c.108A>C	c.(106-108)gaA>gaC	p.E36D	PCDH9_ENST00000377861.3_Missense_Mutation_p.E36D|PCDH9_ENST00000456367.1_Missense_Mutation_p.E36D|PCDH9_ENST00000328454.5_Missense_Mutation_p.E36D|PCDH9_ENST00000544246.1_Missense_Mutation_p.E36D			Q9HC56	PCDH9_HUMAN	protocadherin 9	36	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGGCACATTTTCAGGCAATT	0.443																																																	0													109	104	106					13																	67802465		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.108A>C	13.37:g.67802465T>G	ENSP00000367096:p.Glu36Asp		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E36D	ENST00000377865.2	37	c.108	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619310	0.28801	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.82	4.64	0.57946	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	M	0.70903	2.155	0.58432	D	0.99999	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	D;D;D;D	0.91635	0.977;0.998;0.997;0.999	T	0.50338	-0.8840	10	0.42905	T	0.14	.	11.5532	0.50733	0.0:0.0697:0.0:0.9303	.	36;36;36;36	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	D	36	ENSP00000442186:E36D;ENSP00000367096:E36D;ENSP00000401699:E36D;ENSP00000332060:E36D;ENSP00000367092:E36D	ENSP00000332060:E36D	E	-	3	2	PCDH9	66700466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.035000	0.57297	1.037000	0.40024	0.528000	0.53228	GAA	PCDH9	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000184226		0.443	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	81	0	T	NM_203487		67802465	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	34.72	47	25	SNP	1.000	G	G	67802465	T	G	67802465	3	3	10	1	0	0	0	0	1	0	0	0	11557	1838	64	4	3621	4	PCDH9	13	67802465	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	9594035	67802465	47367413	185	2806											
ING1	3621	genome.wustl.edu	37	chr13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaaggccaaggcggagCgagaggcgtcccctgccgac	8	3	15	15	4	0	1	0	0	0	1	2	4	2	2	5	4	2	1	5	4	2	0	rs368239053		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:111372025C>T	ENST00000375774.3	+	2	1477	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*|ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	339					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R196*(3)|p.R339*(1)|p.R152*(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627																																																	5	Substitution - Nonsense(5)	endometrium(3)|large_intestine(2)											102	71	81					13																	111372025		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1015C>T	13.37:g.111372025C>T	ENSP00000364929:p.Arg339*		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R339*	ENST00000375774.3	37	c.1015	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461577	0.63513	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	.	.	.	5.41	-4.77	0.03219	.	0.047098	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-45.0616	23.0881	0.99979	0.1965:0.8034:0.0:0.0	.	.	.	.	X	152;196;127;339	.	ENSP00000328436:R196X	R	+	1	2	ING1	110170026	0.974000	0.33945	0.853000	0.33588	0.380000	0.30137	0.240000	0.18042	-1.095000	0.03050	-0.500000	0.04577	CGA	ING1	-	superfamily_Znf_FYVE_PHD	ENSG00000153487		0.627	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	-	0	23	0	C	NM_005537		111372025	1	tier1	-	no_errors	ENST00000375774	ensembl	human	known	74_37	nonsense	47.37	10	9	SNP	0.949	T	T	111372025	C	T	111372025	4	4	10	1	0	0	0	0	0	1	0	0	7762	760	27	1	1169	1	ING1	13	111372025	Nonsense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	43569560	111372025	3797853	186	2807											
ZNF828	283489	genome.wustl.edu	37	chr13	115090302	115090302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggaaatccaatccttcaGcatcatcaggaccttggaag	12	10	8	11	0	3	0	3	0	0	0	5	3	5	3	3	3	1	1	3	3	3	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr13:115090302G>T	ENST00000361283.1	+	3	1294	c.985G>T	c.(985-987)Gca>Tca	p.A329S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	329	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A329T(1)									CAATCCTTCAGCATCATCAGG	0.557																																																	1	Substitution - Missense(1)	prostate(1)											92	89	90					13																	115090302		2203	4300	6503	SO:0001583	missense	0			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.985G>T	13.37:g.115090302G>T	ENSP00000354730:p.Ala329Ser		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A329S	ENST00000361283.1	37	c.985	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	G	0.896	-0.723919	0.03158	.	.	ENSG00000198824	ENST00000361283	T	0.01252	5.1	5.92	5.07	0.68467	.	0.479462	0.19377	N	0.115746	T	0.02012	0.0063	L	0.47716	1.5	0.09310	N	1	B	0.19200	0.034	B	0.24394	0.053	T	0.44019	-0.9355	9	.	.	.	-8.9074	11.6433	0.51246	0.0674:0.1234:0.8091:0.0	.	329	Q96JM3	ZN828_HUMAN	S	329	ENSP00000354730:A329S	.	A	+	1	0	ZNF828	114108404	0.051000	0.20477	0.092000	0.20876	0.122000	0.20287	2.409000	0.44583	2.805000	0.96524	0.655000	0.94253	GCA	CHAMP1	-	NULL	ENSG00000198824		0.557	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2		0	33	0	G	NM_032436		115090302	1			no_errors	ENST00000361283	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.012	T	T	115090302	G	T	115090302	3	4	10	1	0	0	0	0	1	0	0	0	18229	971	34	3	987	3	ZNF828	13	115090302	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	3718277	115090302	79576	187	2808											
NIN	51199	genome.wustl.edu	37	chr14	51190336	51190336	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctttcaacaactgggCattttcaacatacaagtcct	13	11	6	11	0	2	1	2	0	0	1	3	1	3	1	1	1	5	2	1	1	5	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:51190336C>A	ENST00000382041.3	-	0	6496				NIN_ENST00000389868.3_3'UTR|RP11-248J18.3_ENST00000602615.1_RNA|NIN_ENST00000530997.2_Missense_Mutation_p.A2083S|NIN_ENST00000245441.5_Missense_Mutation_p.A2083S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.A2083T(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AACAACTGGGCATTTTCAACA	0.428			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	1	Substitution - Missense(1)	lung(1)											140	132	135					14																	51190336		1900	4114	6014	SO:0001628	intergenic_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569		14.37:g.51190336C>A			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.A2083S	ENST00000382041.3	37	c.6247	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.182045|4.182045	0.78677|0.78677	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149|ENST00000530997	T|.	0.45276|.	0.9|.	5.92|5.92	4.86|4.86	0.63082|0.63082	.|.	0.258488|.	0.38164|.	N|.	0.001787|.	T|T	0.66177|0.66177	0.2763|0.2763	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	D|.	0.55800|.	0.973|.	P|.	0.53593|.	0.73|.	T|T	0.64266|0.64266	-0.6448|-0.6448	10|5	0.30078|.	T|.	0.28|.	-8.9191|-8.9191	11.4189|11.4189	0.49969|0.49969	0.0:0.8491:0.0:0.1509|0.0:0.8491:0.0:0.1509	.|.	2083|.	Q8N4C6-7|.	.|.	S|F	2083;2066|1573	ENSP00000245441:A2083S|.	ENSP00000245441:A2083S|.	A|C	-|-	1|2	0|0	NIN|NIN	50260086|50260086	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.261000|1.261000	0.32980|0.32980	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	GCC|TGC	NIN	-	NULL	ENSG00000100503		0.428	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	59	0	C	NM_182946		51190336	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	51190336	C	A	51190336	1	1	10	0	1	0	0	0	0	0	0	0	10456	710	25	3		3	NIN	14	51190336	IGR	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09		51190336	56159204	188	2809											
DACT1	51339	genome.wustl.edu	37	chr14	59113546	59113546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcgagtccctgttccaCtccaccgtggtggacaccag	7	8	12	14	2	0	0	0	0	0	0	3	3	3	1	5	2	1	1	5	2	0	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:59113546C>T	ENST00000335867.4	+	4	2229	c.2205C>T	c.(2203-2205)caC>caT	p.H735H	DACT1_ENST00000556859.1_Silent_p.H454H|DACT1_ENST00000541264.2_Silent_p.H454H|DACT1_ENST00000395153.3_Silent_p.H698H			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	735					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCTGTTCCACTCCACCGTGG	0.652																																																	0													87	83	84					14																	59113546		2203	4300	6503	SO:0001819	synonymous_variant	0			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2205C>T	14.37:g.59113546C>T			A8MYJ2|Q86TY0	Silent	SNP	NULL	p.H735	ENST00000335867.4	37	c.2205	CCDS9736.1	14																																																																																			DACT1	-	NULL	ENSG00000165617		0.652	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	-	0	63	0	C	NM_016651		59113546	1	tier1	-	no_errors	ENST00000335867	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T	T	59113546	C	T	59113546	2	4	10	1	0	0	0	0	0	0	0	1	4231	564	20	3		3	DACT1	14	59113546	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	7923210	59113546	48235994	189	2810											
KIAA0284	283638	genome.wustl.edu	37	chr14	105349067	105349067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcgctccctccacagagGcagcctcttaccgcacaccc	7	7	6	21	2	2	1	0	0	2	1	5	1	4	1	5	1	2	3	5	1	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr14:105349067G>A	ENST00000414716.3	+	7	703	c.475G>A	c.(475-477)Gca>Aca	p.A159T	CEP170B_ENST00000453495.1_Missense_Mutation_p.A159T|CEP170B_ENST00000556508.1_Missense_Mutation_p.A89T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A89T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	159						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CTCCACAGAGGCAGCCTCTTA	0.662																																																	0													32	36	35					14																	105349067		2007	4166	6173	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.475G>A	14.37:g.105349067G>A	ENSP00000404151:p.Ala159Thr		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A159T	ENST00000414716.3	37	c.475	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	9.661	1.144242	0.21205	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	3.86	-1.7	0.08159	.	0.738173	0.12356	N	0.476081	T	0.14227	0.0344	L	0.28344	0.845	0.28539	N	0.912183	B;B;B	0.14012	0.008;0.009;0.003	B;B;B	0.13407	0.009;0.009;0.004	T	0.26018	-1.0115	10	0.20519	T	0.43	-17.4312	0.6642	0.00848	0.42:0.1783:0.2222:0.1795	.	159;159;89	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	89;159;159;89	ENSP00000451249:A89T;ENSP00000404151:A159T;ENSP00000407238:A159T;ENSP00000415006:A89T	ENSP00000404151:A159T	A	+	1	0	KIAA0284	104420112	0.000000	0.05858	0.418000	0.26571	0.065000	0.16274	-0.663000	0.05299	-0.214000	0.10078	-0.379000	0.06801	GCA	CEP170B	-	NULL	ENSG00000099814		0.662	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2		0	87	0	G	NM_001112726		105349067	1			no_errors	ENST00000453495	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.815	A	A	105349067	G	A	105349067	3	1	10	1	0	0	0	0	1	0	0	0	8193	1203	42	3	497	3	KIAA0284	14	105349067	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	46235521	105349067	2000473	190	2811											
RYR3	6263	genome.wustl.edu	37	chr15	33927904	33927904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagatctggaaagtggtatTttgagtttgaagtggtgact	10	15	14	2	0	1	4	0	4	1	1	1	6	1	5	0	3	0	2	0	3	3	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:33927904T>C	ENST00000389232.4	+	26	3335	c.3265T>C	c.(3265-3267)Ttt>Ctt	p.F1089L	RYR3_ENST00000415757.3_Missense_Mutation_p.F1089L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1089	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAGTGGTATTTTGAGTTTGA	0.532																																																	0													76	77	77					15																	33927904		2048	4217	6265	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.3265T>C	15.37:g.33927904T>C	ENSP00000373884:p.Phe1089Leu		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.F1089L	ENST00000389232.4	37	c.3265	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	33	5.236911	0.95240	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.75938	-0.98;-0.98	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.87981	0.6315	M	0.90198	3.095	0.80722	D	1	D;D	0.63046	0.99;0.992	D;D	0.76071	0.979;0.987	D	0.88342	0.2975	10	0.35671	T	0.21	.	15.4479	0.75248	0.0:0.0:0.0:1.0	.	1089;1089	Q15413-2;Q15413	.;RYR3_HUMAN	L	1089	ENSP00000373884:F1089L;ENSP00000399610:F1089L	ENSP00000354735:F1089L	F	+	1	0	RYR3	31715196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.774000	0.85478	2.228000	0.72767	0.533000	0.62120	TTT	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198838		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	45	0	T			33927904	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	33927904	T	C	33927904	3	2	10	1	0	0	0	0	1	0	0	0	13815	1841	64	4	3367	4	RYR3	15	33927904	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09		33927904	68603488	191	2812											
PDIA3	2923	genome.wustl.edu	37	chr15	44063384	44063386	+	In_Frame_Del	DEL	AAG	AAG	-																															taattcaagaagaaaaacccAagaagaagaagaaggcacag																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:44063384_44063386delAAG	ENST00000300289.5	+	13	1634_1636	c.1486_1488delAAG	c.(1486-1488)aagdel	p.K500del	ELL3_ENST00000497465.1_5'Flank|PDIA3_ENST00000538521.1_In_Frame_Del_p.K480del	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	500					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AGAAAAACCCAAGAAGAAGAAGA	0.419																																																	0																																										SO:0001651	inframe_deletion	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1486_1488delAAG	15.37:g.44063393_44063395delAAG	ENSP00000300289:p.Lys500del		Q13453|Q14255|Q8IYF8|Q9UMU7	In_Frame_Del	DEL	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.K499in_frame_del	ENST00000300289.5	37	c.1486_1488	CCDS10101.1	15																																																																																			PDIA3	-	tigrfam_Prot_disulphide_isomerase	ENSG00000167004		0.419	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3		0	41	0	AAG	NM_005313		44063386	1	tier1		no_errors	ENST00000300289	ensembl	human	known	74_37	in_frame_del	8.70	21	2	DEL	1.000:1.000:1.000	-	-	44063386	AAG	-	44063384	7	5	10	1	0	1	0	1	0	0	0	0	11708	131	5	0	1536	0	PDIA3	15	44063384	In_Frame_Del	DEL	AAG	TCGA-2H-A9GO-01A-11D-A37C-09	10135480	44063384	58468008	192	2813											
C15orf42	90381	genome.wustl.edu	37	chr15	90125917	90125917	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttgtcgttttattttagTtgtgggaatccccagaccac	7	17	9	8	1	0	1	0	0	0	1	2	2	1	2	3	1	0	3	3	1	3	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:90125917T>G	ENST00000268138.7	+	2	760	c.655T>G	c.(655-657)Ttg>Gtg	p.L219V	TICRR_ENST00000560985.1_Splice_Site_p.L219V|RP11-429B14.1_ENST00000559041.1_RNA|RP11-429B14.3_ENST00000560477.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	219					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TTTATTTTAGTTGTGGGAATC	0.393																																																	0													100	95	97					15																	90125917		1854	4110	5964	SO:0001630	splice_region_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1T>G	15.37:g.90125917T>G			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.L219V	ENST00000268138.7	37	c.655	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	T	13.54	2.266611	0.40095	.	.	ENSG00000140534	ENST00000268138	T	0.19669	2.13	5.44	-10.9	0.00192	.	0.987081	0.08220	N	0.979261	T	0.25419	0.0618	M	0.62723	1.935	0.18873	N	0.999987	D	0.55800	0.973	P	0.56088	0.791	T	0.21690	-1.0238	9	.	.	.	-0.6813	6.1589	0.20354	0.157:0.4991:0.078:0.2659	.	219	Q7Z2Z1	TICRR_HUMAN	V	219	ENSP00000268138:L219V	.	L	+	1	2	C15orf42	87926921	0.018000	0.18449	0.258000	0.24420	0.554000	0.35429	-1.679000	0.01940	-2.331000	0.00632	-2.489000	0.00195	TTG	TICRR	-	NULL	ENSG00000140534		0.393	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0	36	0	T	NM_152259	Missense_Mutation	90125917	1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	missense	31.03	19	9	SNP	0.005	G	G	90125917	T	G	90125917	5	3	10	1	0	0	0	0	0	0	1	0	1801	1739	60	4	661	4	C15orf42	15	90125917	Splice_Site	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	46062533	90125917	12405475	193	2814											
OR4F15	390649	genome.wustl.edu	37	chr15	102359250	102359250	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgaatccagttatctaCacattcaggaacaaagacat	15	12	5	9	0	3	2	1	1	2	1	4	3	4	3	1	1	2	1	1	1	5	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr15:102359250C>G	ENST00000332238.4	+	1	885	c.861C>G	c.(859-861)taC>taG	p.Y287*		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAGTTATCTACACATTCAGGA	0.388																																																	0													89	77	81					15																	102359250		2203	4300	6503	SO:0001587	stop_gained	0			BK004405	CCDS32342.1	15q26.3	2012-08-09				ENSG00000182854		"GPCR / Class A : Olfactory receptors"	15078	protein-coding gene	gene with protein product							Standard	NM_001001674		Approved		uc010uts.2	Q8NGB8		ENST00000332238.4:c.861C>G	15.37:g.102359250C>G	ENSP00000333184:p.Tyr287*		B2RNQ5|Q6IF57|Q96R70	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y287*	ENST00000332238.4	37	c.861	CCDS32342.1	15	.	.	.	.	.	.	.	.	.	.	.	15.97	2.989328	0.53934	.	.	ENSG00000182854	ENST00000332238	.	.	.	5.46	-2.17	0.07059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.941	0.70994	0.0:0.7779:0.0:0.2221	.	.	.	.	X	287	.	.	Y	+	3	2	OR4F15	100176773	0.000000	0.05858	0.961000	0.40146	0.674000	0.39518	-2.301000	0.01137	-0.623000	0.05618	-0.312000	0.09012	TAC	OR4F15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000182854		0.388	OR4F15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F15	HGNC	protein_coding	OTTHUMT00000417594.1	-	0	69	0	C	NM_001001674		102359250	1	tier1	-	no_errors	ENST00000332238	ensembl	human	known	74_37	nonsense	18.18	54	12	SNP	0.982	G	G	102359250	C	G	102359250	4	3	10	1	0	0	0	0	0	1	0	0	11100	489	17	5	863	5	OR4F15	15	102359250	Nonsense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	12233333	102359250	172142	194	2815											
ZNF598	90850	genome.wustl.edu	37	chr16	2052579	2052579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaagtagtggtcgcggCgcaggtgcttaagcagctca	9	7	16	9	3	1	1	1	0	0	1	2	1	1	1	0	4	3	6	0	4	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:2052579C>T	ENST00000563630.1	-	4	697	c.455G>A	c.(454-456)cGc>cAc	p.R152H	ZNF598_ENST00000431526.1_Missense_Mutation_p.R207H|ZNF598_ENST00000562103.1_Missense_Mutation_p.R152H			Q86UK7	ZN598_HUMAN	zinc finger protein 598	207							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GTGGTCGCGGCGCAGGTGCTT	0.632																																																	0													61	68	66					16																	2052579		2158	4262	6420	SO:0001583	missense	0			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.455G>A	16.37:g.2052579C>T	ENSP00000455882:p.Arg152His		Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING	p.R207H	ENST00000563630.1	37	c.620		16	.	.	.	.	.	.	.	.	.	.	.	24.1	4.498083	0.85069	.	.	ENSG00000167962	ENST00000431526	T	0.32753	1.44	4.98	4.98	0.66077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69472	-0.5136	10	0.62326	D	0.03	-26.9944	17.216	0.86944	0.0:1.0:0.0:0.0	.	207	Q86UK7	ZN598_HUMAN	H	207	ENSP00000411409:R207H	ENSP00000411409:R207H	R	-	2	0	ZNF598	1992580	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.381000	0.79718	2.310000	0.77875	0.561000	0.74099	CGC	ZNF598	-	smart_Znf_C2H2-like	ENSG00000167962		0.632	ZNF598-001	NOVEL	basic	protein_coding	ZNF598	HGNC	protein_coding	OTTHUMT00000434439.1	-	0	24	0	C	NM_178167		2052579	-1	tier1	-	no_errors	ENST00000431526	ensembl	human	known	74_37	missense	23.81	31	10	SNP	1.000	T	T	2052579	C	T	2052579	3	4	10	1	0	0	0	0	1	0	0	0	18076	768	27	1	2130	1	ZNF598	16	2052579	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09		2052579	88302174	195	2816											
UMOD	7369	genome.wustl.edu	37	chr16	20360416	20360416	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagctccaggaatggcGcactcatccaggtccacgca	9	8	11	13	2	1	1	1	1	0	0	4	2	4	2	3	3	1	3	3	3	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:20360416G>T	ENST00000570689.1	-	3	353	c.207C>A	c.(205-207)tgC>tgA	p.C69*	UMOD_ENST00000302509.4_Nonsense_Mutation_p.C69*|UMOD_ENST00000396138.4_Nonsense_Mutation_p.C118*|UMOD_ENST00000424589.1_Nonsense_Mutation_p.C102*|UMOD_ENST00000396134.2_Nonsense_Mutation_p.C102*|UMOD_ENST00000396142.2_Nonsense_Mutation_p.C69*			P07911	UROM_HUMAN	uromodulin	69	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGAATGGCGCACTCATCCA	0.642																																																	0													55	39	45					16																	20360416		2203	4300	6503	SO:0001587	stop_gained	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.207C>A	16.37:g.20360416G>T	ENSP00000460548:p.Cys69*		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Nonsense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.C102*	ENST00000570689.1	37	c.306	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	g	15.01	2.706446	0.48412	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	.	.	.	5.39	-2.97	0.05530	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.3668	11.7556	0.51874	0.7961:0.0:0.2039:0.0	.	.	.	.	X	69;102;102;69;69;69	.	ENSP00000306279:C69X	C	-	3	2	UMOD	20267917	0.817000	0.29147	0.368000	0.25939	0.393000	0.30537	0.043000	0.13971	-0.252000	0.09528	0.556000	0.70494	TGC	UMOD	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000169344		0.642	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0	50	0	G			20360416	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	nonsense	21.67	47	13	SNP	0.917	T	T	20360416	G	T	20360416	4	4	10	1	0	0	0	0	0	1	0	0	17028	1079	38	2	1751	2	UMOD	16	20360416	Nonsense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	18307837	20360416	69994337	196	2817											
TNRC6A	27327	genome.wustl.edu	37	chr16	24788428	24788428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagccacagcagcagcCacagccgcagccgcagcagc	11	0	12	18	2	0	0	0	0	0	0	0	0	0	0	4	0	9	7	4	0	0	0	rs10593507|rs71156436|rs71383714	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:24788428C>A	ENST00000395799.3	+	5	467	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P113Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	113	Gln-rich.|Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		cagcagcagccacagccgcag	0.592																																																	0													18	23	21					16																	24788428		2035	3998	6033	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.338C>A	16.37:g.24788428C>A	ENSP00000379144:p.Pro113Gln		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P113Q	ENST00000395799.3	37	c.338	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.972007	0.00048	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.11385	2.78;2.78	1.08	-2.16	0.07080	.	1.229440	0.06127	N	0.669828	T	0.09468	0.0233	N	0.08118	0	0.09310	N	0.999999	D	0.55605	0.972	P	0.56700	0.804	T	0.20840	-1.0263	10	0.33141	T	0.24	3.7589	4.9815	0.14168	0.6153:0.3847:0.0:0.0	.	113	Q8NDV7	TNR6A_HUMAN	Q	113	ENSP00000326900:P113Q;ENSP00000379144:P113Q	ENSP00000326900:P113Q	P	+	2	0	TNRC6A	24695929	0.000000	0.05858	0.046000	0.18839	0.007000	0.05969	-0.945000	0.03909	-0.553000	0.06158	-0.666000	0.03841	CCA	TNRC6A	-	NULL	ENSG00000090905		0.592	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1		0	65	0	C	NM_020847		24788428	1			no_errors	ENST00000395799	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.109	A	A	24788428	C	A	24788428	3	1	10	1	0	0	0	0	1	0	0	0	16387	594	21	3	356	3	TNRC6A	16	24788428	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	4428012	24788428	65566325	197	2818											
WWP2	11060	genome.wustl.edu	37	chr16	69967973	69967973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagatcaaccccgccTcctccatcaacccggaccac	9	5	6	21	2	2	1	2	0	0	1	4	2	4	2	8	1	3	1	8	1	2	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:69967973T>C	ENST00000359154.2	+	17	1884	c.1783T>C	c.(1783-1785)Tcc>Ccc	p.S595P	WWP2_ENST00000448661.1_Missense_Mutation_p.S595P|WWP2_ENST00000356003.2_Missense_Mutation_p.S595P|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Missense_Mutation_p.S156P|WWP2_ENST00000542271.1_Missense_Mutation_p.S479P	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	595	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAACCCCGCCTCCTCCATCAA	0.512																																																	0													143	138	140					16																	69967973		2198	4300	6498	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1783T>C	16.37:g.69967973T>C	ENSP00000352069:p.Ser595Pro		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.S595P	ENST00000359154.2	37	c.1783	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038335	0.93630	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	T	0.80042	0.4551	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85534	0.1211	9	.	.	.	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	595	O00308	WWP2_HUMAN	P	595;156;595;595;482;479	ENSP00000352069:S595P;ENSP00000396871:S595P;ENSP00000348283:S595P;ENSP00000445616:S479P	.	S	+	1	0	WWP2	68525474	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	TCC	WWP2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198373		0.512	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	-	0	70	0	T	NM_007014		69967973	1	tier1	-	no_errors	ENST00000356003	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	69967973	T	C	69967973	3	2	10	1	0	0	0	0	1	0	0	0	17465	1551	54	4	1849	4	WWP2	16	69967973	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	45179545	69967973	20386780	198	2819											
VAC14	55697	genome.wustl.edu	37	chr16	70796857	70796857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatcatcccaatggccGtgtcactgaggtggcagttt	7	12	12	10	1	3	1	3	1	0	0	4	1	4	1	2	4	0	2	2	4	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr16:70796857G>T	ENST00000261776.5	-	11	1492	c.1232C>A	c.(1231-1233)aCg>aAg	p.T411K	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	411					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCCAATGGCCGTGTCACTGAG	0.577																																																	0													123	93	103					16																	70796857		2198	4300	6498	SO:0001583	missense	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1232C>A	16.37:g.70796857G>T	ENSP00000261776:p.Thr411Lys		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.T411K	ENST00000261776.5	37	c.1232	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701044	0.15172	.	.	ENSG00000103043	ENST00000261776	T	0.65549	-0.16	5.81	-4.85	0.03142	Armadillo-like helical (1);Armadillo-type fold (1);	0.521615	0.24831	N	0.035243	T	0.46288	0.1385	L	0.38531	1.155	0.58432	D	0.999997	B	0.23937	0.094	B	0.20384	0.029	T	0.49615	-0.8921	10	0.06625	T	0.88	-6.7186	21.2037	0.99948	0.1258:0.0:0.8742:0.0	.	411	Q08AM6	VAC14_HUMAN	K	411	ENSP00000261776:T411K	ENSP00000261776:T411K	T	-	2	0	VAC14	69354358	0.847000	0.29606	0.854000	0.33618	0.983000	0.72400	1.364000	0.34171	-0.819000	0.04323	-0.302000	0.09304	ACG	VAC14	-	superfamily_ARM-type_fold	ENSG00000103043		0.577	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3		0	42	0	G	NM_018052		70796857	-1			no_errors	ENST00000261776	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.910	T	T	70796857	G	T	70796857	3	4	10	1	0	0	0	0	1	0	0	0	17160	1145	40	2	1152	2	VAC14	16	70796857	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	828884	70796857	19557896	199	2820											
TP53	7157	genome.wustl.edu	37	chr17	7579350	7579350	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtcccagaatgcaagaAgcccagacggaaaccgtagc	13	4	12	12	2	0	3	0	0	0	3	1	4	1	4	3	2	4	3	3	2	5	1	rs587781642		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:7579350A>C	ENST00000269305.4	-	4	526	c.337T>G	c.(337-339)Ttc>Gtc	p.F113V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F113V|TP53_ENST00000413465.2_Missense_Mutation_p.F113V|TP53_ENST00000445888.2_Missense_Mutation_p.F113V|TP53_ENST00000420246.2_Missense_Mutation_p.F113V|TP53_ENST00000359597.4_Missense_Mutation_p.F113V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	113	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F113V(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAATGCAAGAAGCCCAGACGG	0.607		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	26	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(7)|Deletion - In frame(3)	upper_aerodigestive_tract(5)|bone(4)|breast(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|urinary_tract(1)|liver(1)|oesophagus(1)											65	61	62					17																	7579350		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.337T>G	17.37:g.7579350A>C	ENSP00000269305:p.Phe113Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F113V	ENST00000269305.4	37	c.337	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552094	0.86127	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99859	-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23;-7.23	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.76433	2.335	0.54753	D	0.999983	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.474;1.0;1.0;1.0	D;D;D;B;D;D;D	0.97110	1.0;1.0;1.0;0.425;1.0;1.0;1.0	D	0.96597	0.9442	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	74;113;113;113;113;113;113	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	113	ENSP00000410739:F113V;ENSP00000352610:F113V;ENSP00000269305:F113V;ENSP00000398846:F113V;ENSP00000391127:F113V;ENSP00000391478:F113V;ENSP00000424104:F113V;ENSP00000426252:F113V	ENSP00000269305:F113V	F	-	1	0	TP53	7520075	1.000000	0.71417	0.981000	0.43875	0.964000	0.63967	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	113	0	A	NM_000546		7579350	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	58.42	42	59	SNP	0.999	C	C	7579350	A	C	7579350	3	2	10	1	0	0	0	0	1	0	0	0	16429	72	3	4	965	4	TP53	17	7579350	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09		7579350	73615860	200	2821											
DNAH2	146754	genome.wustl.edu	37	chr17	7721353	7721353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccggtgctacttcagaaCgtgcaggaatatctggaccc	10	9	10	12	2	2	1	1	0	1	1	2	3	2	3	2	3	5	2	2	3	5	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:7721353C>T	ENST00000572933.1	+	68	11786	c.10326C>T	c.(10324-10326)aaC>aaT	p.N3442N	DNAH2_ENST00000389173.2_Silent_p.N3442N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3442	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACTTCAGAACGTGCAGGAAT	0.522																																																	0													134	119	124					17																	7721353		2203	4300	6503	SO:0001819	synonymous_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10326C>T	17.37:g.7721353C>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N3442	ENST00000572933.1	37	c.10326	CCDS32551.1	17																																																																																			DNAH2	-	NULL	ENSG00000183914		0.522	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	82	0	C	NM_020877		7721353	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	silent	20.51	62	16	SNP	0.043	T	T	7721353	C	T	7721353	2	4	10	1	0	0	0	0	0	0	0	1	4616	535	19	1		1	DNAH2	17	7721353	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	142003	7721353	73473857	201	2822											
GLP2R	9340	genome.wustl.edu	37	chr17	9745841	9745841	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagggcctacagacactgcTtggctcaggggacttggcag	9	7	15	10	0	1	1	1	0	0	1	1	3	1	2	1	5	2	3	1	5	2	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:9745841T>G	ENST00000262441.5	+	4	925	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	138					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CAGACACTGCTTGGCTCAGGG	0.527																																																	0													126	102	110					17																	9745841		2203	4300	6503	SO:0001583	missense	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.412T>G	17.37:g.9745841T>G	ENSP00000262441:p.Leu138Val		Q4VAT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L138V	ENST00000262441.5	37	c.412	CCDS11150.1	17	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833573	0.32421	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.63580	-0.05	4.93	-1.13	0.09775	GPCR, family 2, extracellular hormone receptor domain (2);	0.281511	0.19177	N	0.120789	T	0.69269	0.3092	M	0.83953	2.67	0.09310	N	0.999992	P	0.46987	0.888	P	0.54706	0.759	T	0.61603	-0.7029	10	0.52906	T	0.07	.	6.0115	0.19578	0.1307:0.4174:0.0:0.4519	.	138	O95838	GLP2R_HUMAN	V	138;113;138	ENSP00000262441:L138V	ENSP00000262441:L138V	L	+	1	2	GLP2R	9686566	0.982000	0.34865	0.127000	0.21898	0.231000	0.25187	0.528000	0.23002	-0.425000	0.07371	-0.441000	0.05720	TTG	GLP2R	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000065325		0.527	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	-	0	33	0	T			9745841	1	tier1	-	no_errors	ENST00000262441	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.099	G	G	9745841	T	G	9745841	3	3	10	1	0	0	0	0	1	0	0	0	6479	1606	56	4	426	4	GLP2R	17	9745841	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	2024488	9745841	71449369	202	2823											
ULK2	9706	genome.wustl.edu	37	chr17	19680971	19680971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaagggctgccttatgaTagcgataaacaatatcttcg	15	10	9	7	2	1	2	0	1	1	1	2	3	1	2	1	1	3	1	1	1	8	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:19680971T>A	ENST00000395544.4	-	26	3474	c.2975A>T	c.(2974-2976)tAt>tTt	p.Y992F	ULK2_ENST00000361658.2_Missense_Mutation_p.Y992F	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	992	CTD-like region.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGCCTTATGATAGCGATAAAC	0.408																																																	0													97	91	93					17																	19680971		2203	4300	6503	SO:0001583	missense	0			AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"unc-51 (C. elegans)-like kinase 2", "unc-51-like kinase 2 (C. elegans)"			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.2975A>T	17.37:g.19680971T>A	ENSP00000378914:p.Tyr992Phe		A8MY69|O75119	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y992F	ENST00000395544.4	37	c.2975	CCDS11213.1	17	.	.	.	.	.	.	.	.	.	.	T	31	5.059021	0.93846	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.69175	-0.38;-0.38	5.73	5.73	0.89815	Serine/threonine-protein kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82838	0.5124	M	0.84082	2.675	0.46376	D	0.999013	D	0.76494	0.999	D	0.79108	0.992	D	0.85603	0.1253	10	0.87932	D	0	-17.6797	15.2018	0.73142	0.0:0.0:0.0:1.0	.	992	Q8IYT8	ULK2_HUMAN	F	992	ENSP00000354877:Y992F;ENSP00000378914:Y992F	ENSP00000354877:Y992F	Y	-	2	0	ULK2	19621563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.641000	0.83368	2.179000	0.69175	0.528000	0.53228	TAT	ULK2	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000083290		0.408	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ULK2	HGNC	protein_coding	OTTHUMT00000132375.2		0	57	0	T	NM_014683		19680971	-1			no_errors	ENST00000361658	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	A	A	19680971	T	A	19680971	3	1	10	1	0	0	0	0	1	0	0	0	17025	1406	49	5	143	5	ULK2	17	19680971	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	9935130	19680971	61514239	203	2824											
PHF12	57649	genome.wustl.edu	37	chr17	27233339	27233339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgatgctgaagacaaaCtgcaggcagcccagcttgat	12	8	11	10	0	1	4	1	3	0	1	1	4	1	4	1	1	5	4	1	1	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:27233339C>T	ENST00000332830.4	-	15	3687	c.2877G>A	c.(2875-2877)caG>caA	p.Q959Q	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TGAAGACAAACTGCAGGCAGC	0.607																																																	0													59	60	60					17																	27233339		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2877G>A	17.37:g.27233339C>T				Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.Q959	ENST00000332830.4	37	c.2877	CCDS32598.1	17																																																																																			PHF12	-	NULL	ENSG00000109118		0.607	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	-	0	38	0	C	NM_020889		27233339	-1	tier1	-	no_errors	ENST00000332830	ensembl	human	known	74_37	silent	7.81	59	5	SNP	1.000	T	T	27233339	C	T	27233339	2	4	10	1	0	0	0	0	0	0	0	1	11862	564	20	3		3	PHF12	17	27233339	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	7552368	27233339	53961871	204	2825											
KRT27	342574	genome.wustl.edu	37	chr17	38936058	38936058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtctaccccgggggccGcgttcatctccacgttcacg	5	9	12	15	5	4	1	2	1	2	0	5	1	4	1	4	3	1	2	4	3	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:38936058G>A	ENST00000301656.3	-	4	780	c.740C>T	c.(739-741)gCg>gTg	p.A247V	KRT27_ENST00000540723.1_5'Flank	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CCCGGGGGCCGCGTTCATCTC	0.522																																																	0													53	55	54					17																	38936058		2203	4300	6503	SO:0001583	missense	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.740C>T	17.37:g.38936058G>A	ENSP00000301656:p.Ala247Val			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.A247V	ENST00000301656.3	37	c.740	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.637744	0.96693	.	.	ENSG00000171446	ENST00000301656	D	0.89415	-2.51	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000015	D	0.94212	0.8142	M	0.71036	2.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.94369	0.7594	10	0.87932	D	0	.	18.7774	0.91916	0.0:0.0:1.0:0.0	.	247	Q7Z3Y8	K1C27_HUMAN	V	247	ENSP00000301656:A247V	ENSP00000301656:A247V	A	-	2	0	KRT27	36189584	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.336000	0.96533	2.754000	0.94517	0.591000	0.81541	GCG	KRT27	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	ENSG00000171446		0.522	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1		0	39	0	G	NM_181537		38936058	-1			no_errors	ENST00000301656	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	38936058	G	A	38936058	3	1	10	1	0	0	0	0	1	0	0	0	8491	1087	38	1	659	1	KRT27	17	38936058	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	11702719	38936058	42259152	205	2826											
UBTF	7343	genome.wustl.edu	37	chr17	42290223	42290223	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatacaccttcttctcgtgGgtgtaccacagctgctgggg	7	11	12	11	1	2	1	0	0	2	1	3	1	2	1	2	3	4	3	2	3	2	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:42290223G>T	ENST00000302904.4	-	7	1116	c.624C>A	c.(622-624)acC>acA	p.T208T	UBTF_ENST00000436088.1_Silent_p.T208T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Silent_p.T208T|UBTF_ENST00000526094.1_Silent_p.T208T|UBTF_ENST00000537550.1_5'Flank|UBTF_ENST00000529383.1_Silent_p.T208T|UBTF_ENST00000343638.5_Silent_p.T208T|UBTF_ENST00000393606.3_Silent_p.T208T|UBTF_ENST00000527034.1_Silent_p.T208T			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	208					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCTTCTCGTGGGTGTACCACA	0.622																																																	0													185	168	174					17																	42290223		2203	4300	6503	SO:0001819	synonymous_variant	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.624C>A	17.37:g.42290223G>T			A8K6R8	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.T208	ENST00000302904.4	37	c.624	CCDS11480.1	17																																																																																			UBTF	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.622	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	-	0	52	0	G	NM_014233		42290223	-1	tier1	-	no_errors	ENST00000302904	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	T	T	42290223	G	T	42290223	2	4	10	1	0	0	0	0	0	0	0	1	16958	1219	43	3		3	UBTF	17	42290223	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	3354165	42290223	38904987	206	2827											
DCAF7	10238	genome.wustl.edu	37	chr17	61666411	61666411	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcaaatgccccgagcCattgaggaccctatcctggc	10	7	9	15	1	0	1	0	1	0	0	2	3	2	2	6	2	3	1	6	2	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:61666411C>A	ENST00000310827.4	+	8	1123	c.906C>A	c.(904-906)gcC>gcA	p.A302A	DCAF7_ENST00000415273.2_Silent_p.A102A|DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	302					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TGCCCCGAGCCATTGAGGACC	0.542																																																	0													68	67	67					17																	61666411		2023	4184	6207	SO:0001819	synonymous_variant	0			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30915	protein-coding gene	gene with protein product	"seven-WD-repeat protein of the AN11 family-1", "human anthocyanin"	605973	"WD repeat domain 68"	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.906C>A	17.37:g.61666411C>A			B4E039|D3DU14|O15491|Q9DAE4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A302	ENST00000310827.4	37	c.906		17																																																																																			DCAF7	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000136485		0.542	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		-	0	44	0	C	NM_005828		61666411	1	tier1	-	no_errors	ENST00000310827	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	A	A	61666411	C	A	61666411	2	1	10	1	0	0	0	0	0	0	0	1	4284	581	21	3		3	DCAF7	17	61666411	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	19376188	61666411	19528799	207	2828											
CCDC46	201134	genome.wustl.edu	37	chr17	63632093	63632093	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctctcgtgcagttacCtgtaaaccaaaaatcgcagt	12	11	7	11	2	1	0	0	0	1	0	4	0	1	0	2	0	3	5	2	0	5	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:63632093C>A	ENST00000392769.2	-	27	3083		c.e27-1		CEP112_ENST00000317442.8_Splice_Site|CTD-2535L24.2_ENST00000577662.1_Splice_Site|CEP112_ENST00000537949.1_Splice_Site|CEP112_ENST00000541355.1_Splice_Site|CEP112_ENST00000535342.2_Splice_Site	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa						receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GTGCAGTTACCTGTAAACCAA	0.408																																																	0													97	77	84					17																	63632093		2203	4299	6502	SO:0001630	splice_region_variant	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2865-1G>T	17.37:g.63632093C>A			Q6PIB5|Q8NCR4|Q8NFR4	Splice_Site	SNP	-	e26-1	ENST00000392769.2	37	c.2865-1	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010478	0.54361	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000317442;ENST00000541355;ENST00000537949	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7629	0.91860	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP112	61062555	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	4.728000	0.62000	2.941000	0.99782	0.655000	0.94253	.	CEP112	-	-	ENSG00000154240		0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1		0	45	0	C	NM_145036	Intron	63632093	-1			no_errors	ENST00000392769	ensembl	human	known	74_37	splice_site	5.71	66	4	SNP	1.000	A	A	63632093	C	A	63632093	5	1	10	1	0	0	0	0	0	0	1	0	2824	695	24	3	7	3	CCDC46	17	63632093	Splice_Site	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	1965682	63632093	17563117	208	2829											
BAIAP2	10458	genome.wustl.edu	37	chr17	79077394	79077394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcggtgcagctcatgcaGcaggtggccagcaacggcgc	7	4	16	14	5	1	0	1	0	0	0	1	0	1	0	1	4	6	5	1	4	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr17:79077394G>A	ENST00000321300.6	+	8	828	c.735G>A	c.(733-735)caG>caA	p.Q245Q	BAIAP2_ENST00000428708.2_Silent_p.Q245Q|BAIAP2_ENST00000321280.7_Silent_p.Q245Q|BAIAP2_ENST00000435091.3_Silent_p.Q245Q|BAIAP2_ENST00000575712.1_Silent_p.Q245Q|BAIAP2_ENST00000416299.2_Silent_p.Q108Q|BAIAP2_ENST00000575245.1_Silent_p.Q278Q|BAIAP2_ENST00000392411.3_Silent_p.Q167Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	245	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCTCATGCAGCAGGTGGCCA	0.692																																																	0													18	19	19					17																	79077394		2194	4295	6489	SO:0001819	synonymous_variant	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.735G>A	17.37:g.79077394G>A			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Q245	ENST00000321300.6	37	c.735	CCDS11775.1	17																																																																																			BAIAP2	-	NULL	ENSG00000175866		0.692	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	-	0	12	0	G			79077394	1	tier1	-	no_errors	ENST00000321300	ensembl	human	known	74_37	silent	36.84	12	7	SNP	1.000	A	A	79077394	G	A	79077394	2	1	10	1	0	0	0	0	0	0	0	1	1302	962	34	3		3	BAIAP2	17	79077394	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	15445301	79077394	2117816	209	2830											
TCEB3B	51224	genome.wustl.edu	37	chr18	44560412	44560412	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctttcctttgtttatcTccaagtgcagtggtggcaga	6	17	10	8	0	1	1	0	0	1	1	3	1	2	1	2	2	2	4	2	2	2	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr18:44560412T>A	ENST00000332567.4	-	1	1576	c.1224A>T	c.(1222-1224)ggA>ggT	p.G408G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	408					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGTTTATCTCCAAGTGCAG	0.483																																																	0													120	106	111					18																	44560412		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1224A>T	18.37:g.44560412T>A			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.G408	ENST00000332567.4	37	c.1224	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.483	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0	84	0	T	NM_016427		44560412	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.001	A	A	44560412	T	A	44560412	2	1	10	1	0	0	0	0	0	0	0	1	15729	1538	54	5		5	TCEB3B	18	44560412	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09		44560412	33516836	210	2831											
MED16	10025	genome.wustl.edu	37	chr19	885801	885801	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgggccaggaacttgAggtgggtgatggcgggaaac	8	7	18	8	2	0	2	0	2	0	0	1	4	1	4	2	6	2	0	2	6	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:885801A>G	ENST00000589119.1	-	4	847	c.848T>C	c.(847-849)cTc>cCc	p.L283P	MED16_ENST00000269814.4_Missense_Mutation_p.L283P|MED16_ENST00000325464.1_Missense_Mutation_p.L283P|MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Missense_Mutation_p.L283P|MED16_ENST00000312090.6_Missense_Mutation_p.L283P			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	283					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAACTTGAGGTGGGTGAT	0.622																																																	0													90	93	92					19																	885801		2203	4300	6503	SO:0001583	missense	0			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.848T>C	19.37:g.885801A>G	ENSP00000464810:p.Leu283Pro		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L283P	ENST00000589119.1	37	c.848	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897729	0.72639	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000424039	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	3.49	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.64404	1.975	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.76484	-0.2942	10	0.72032	D	0.01	-6.0289	11.3555	0.49613	1.0:0.0:0.0:0.0	.	283;283;283;283	E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;MED16_HUMAN	P	283	ENSP00000325612:L283P;ENSP00000308528:L283P;ENSP00000379153:L283P;ENSP00000269814:L283P	ENSP00000269814:L283P	L	-	2	0	MED16	836801	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.416000	0.90244	1.477000	0.48234	0.459000	0.35465	CTC	MED16	-	pfam_Mediator_Med16,superfamily_WD40_repeat_dom	ENSG00000175221		0.622	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3	-	0	58	0	A	NM_005481		885801	-1	tier1	-	no_errors	ENST00000325464	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G	G	885801	A	G	885801	3	3	10	1	0	0	0	0	1	0	0	0	9472	304	11	4	1833	4	MED16	19	885801	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09		885801	58243182	211	2832											
GAMT	2593	genome.wustl.edu	37	chr19	1398833	1398833	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagggaccctccccaggtaGcaaggtggctccagcagccc	9	4	13	15	0	0	0	0	0	0	0	2	2	2	1	5	4	3	4	5	4	3	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:1398833G>T	ENST00000252288.2	-	5	637				AC005329.7_ENST00000501448.1_RNA|GAMT_ENST00000447102.3_Missense_Mutation_p.L218I	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	TCCCCAGGTAGCAAGGTGGCT	0.602																																					Colon(167;1531 1939 13427 28842 31956)												0													37	34	35					19																	1398833		1327	2309	3636	SO:0001627	intron_variant	0			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.570+81C>A	19.37:g.1398833G>T			A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	NULL	p.L218I	ENST00000252288.2	37	c.652	CCDS12064.1	19	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886537	0.33348	.	.	ENSG00000130005	ENST00000447102	D	0.94828	-3.53	2.78	-5.56	0.02529	.	.	.	.	.	D	0.84456	0.5476	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.71080	-0.4696	8	0.12766	T	0.61	.	5.515	0.16902	0.1828:0.0:0.5453:0.2719	.	218	A8K0A0	.	I	218	ENSP00000403536:L218I	ENSP00000403536:L218I	L	-	1	2	GAMT	1349833	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.416000	0.01035	-2.466000	0.00533	-0.666000	0.03841	CTA	GAMT	-	NULL	ENSG00000130005		0.602	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1	-	0	55	0	G	NM_138924		1398833	-1	tier1	-	no_errors	ENST00000447102	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T	T	1398833	G	T	1398833	1	4	10	0	1	0	0	0	0	0	0	0	6256	962	34	3		3	GAMT	19	1398833	Intron	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	513032	1398833	57730150	212	2833											
AP3D1	8943	genome.wustl.edu	37	chr19	2111747	2111747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcgctgcctggaggCtgcttcttggacttcttctt	2	15	10	14	1	3	0	0	0	3	0	5	2	4	2	3	3	2	3	3	3	0	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:2111747C>T	ENST00000345016.5	-	23	2913	c.2682G>A	c.(2680-2682)caG>caA	p.Q894Q	AP3D1_ENST00000355272.6_Silent_p.Q956Q|AP3D1_ENST00000356926.4_Silent_p.Q853Q|AP3D1_ENST00000350812.6_Silent_p.Q725Q	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	894					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTGGAGGctgcttcttgg	0.632																																																	0													103	96	98					19																	2111747		2184	4281	6465	SO:0001819	synonymous_variant	0			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2682G>A	19.37:g.2111747C>T			O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.Q956	ENST00000345016.5	37	c.2868	CCDS42459.1	19																																																																																			AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu	ENSG00000065000		0.632	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	-	0	59	0	C			2111747	-1	tier1	-	no_errors	ENST00000355272	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.025	T	T	2111747	C	T	2111747	2	4	10	1	0	0	0	0	0	0	0	1	746	796	28	3		3	AP3D1	19	2111747	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	712914	2111747	57017236	213	2834											
ACSBG2	81616	genome.wustl.edu	37	chr19	6147599	6147599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggaacttatccagccctCgcatccaagaatggcaaaaa	14	9	7	11	1	0	1	0	0	0	1	3	2	2	2	3	2	2	2	3	2	6	2	rs577031271		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:6147599C>T	ENST00000586696.1	+	3	486	c.210C>T	c.(208-210)ctC>ctT	p.L70L	ACSBG2_ENST00000252669.5_Silent_p.L70L|ACSBG2_ENST00000591403.1_Silent_p.L70L|ACSBG2_ENST00000588304.1_Silent_p.L20L|ACSBG2_ENST00000588485.1_5'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	70					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCCAGCCCTCGCATCCAAGA	0.458													c|||	1	0.000199681	8e-04	0	5008	,	,		18426	0		0	False		,,,				2504	0																0													167	168	168					19																	6147599		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.210C>T	19.37:g.6147599C>T			B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L70	ENST00000586696.1	37	c.210	CCDS12159.1	19																																																																																			ACSBG2	-	NULL	ENSG00000130377		0.458	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1	-	0	49	0	C	NM_030924		6147599	1	tier1	-	no_errors	ENST00000252669	ensembl	human	known	74_37	silent	10.00	54	6	SNP	0.000	T	T	6147599	C	T	6147599	2	4	10	1	0	0	0	0	0	0	0	1	174	871	31	1		1	ACSBG2	19	6147599	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	4035852	6147599	52981384	214	2835											
ZNF558	148156	genome.wustl.edu	37	chr19	8932677	8932677	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaggaacatctgactcAcccgtagccagcttgtcagg	12	7	11	11	1	3	1	2	1	1	0	3	3	3	3	2	3	3	2	2	3	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:8932677A>G	ENST00000601372.1	-	6	832		c.e6+1		ZNF558_ENST00000444186.2_5'Flank|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Splice_Site			Q96NG5	ZN558_HUMAN	zinc finger protein 558						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CATCTGACTCACCCGTAGCCA	0.542																																																	0													193	174	180					19																	8932677		2203	4300	6503	SO:0001630	splice_region_variant	0			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.120+1T>C	19.37:g.8932677A>G			A8K5F0|B7Z798	Splice_Site	SNP	-	e2+2	ENST00000601372.1	37	c.120+2	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	A	6.558	0.471311	0.12461	.	.	ENSG00000167785	ENST00000301475	.	.	.	3.24	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.49687	D	0.999814	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7525	0.05285	0.6516:0.0:0.1271:0.2213	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF558	8793677	1.000000	0.71417	0.709000	0.30452	0.008000	0.06430	1.873000	0.39558	0.152000	0.19188	-0.353000	0.07706	.	ZNF558	-	-	ENSG00000167785		0.542	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2		0	75	0	A	NM_144693	Intron	8932677	-1			no_errors	ENST00000301475	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	0.721	G	G	8932677	A	G	8932677	5	3	10	1	0	0	0	0	0	0	1	0	18037	173	6	4	1106	4	ZNF558	19	8932677	Splice_Site	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	2785078	8932677	50196306	215	2836											
MUC16	94025	genome.wustl.edu	37	chr19	9026312	9026312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcatcaggagagggccaGcagctatagtgggagtgtga	11	6	17	7	1	1	2	1	1	0	1	1	4	1	3	1	4	2	3	1	4	2	2	rs200190822	byFrequency	TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:9026312G>T	ENST00000397910.4	-	14	36877	c.36674C>A	c.(36673-36675)gCt>gAt	p.A12225D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12227					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGGGCCAGCAGCTATAGT	0.443																																																	0													179	161	167					19																	9026312		2021	4190	6211	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36674C>A	19.37:g.9026312G>T	ENSP00000381008:p.Ala12225Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A12225D	ENST00000397910.4	37	c.36674	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.768	0.142895	0.09083	.	.	ENSG00000181143	ENST00000397910	T	0.34072	1.38	1.92	0.227	0.15359	.	.	.	.	.	T	0.35451	0.0932	M	0.70595	2.14	.	.	.	D	0.58268	0.982	P	0.44623	0.455	T	0.45352	-0.9267	8	0.87932	D	0	.	4.3067	0.10951	0.2988:0.0:0.7012:0.0	.	12225	B5ME49	.	D	12225	ENSP00000381008:A12225D	ENSP00000381008:A12225D	A	-	2	0	MUC16	8887312	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.747000	0.04823	0.103000	0.17682	0.195000	0.17529	GCT	MUC16	-	NULL	ENSG00000181143		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	99	0	G	NM_024690		9026312	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T	T	9026312	G	T	9026312	3	4	10	1	0	0	0	0	1	0	0	0	10011	971	34	3	7133	3	MUC16	19	9026312	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	93635	9026312	50102671	216	2837											
LDLR	3949	genome.wustl.edu	37	chr19	11231050	11231050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcttctgccccaggagtGaactggtgtgagaggaccac	8	9	13	11	0	2	2	0	2	2	1	2	5	2	4	3	3	2	1	3	3	1	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:11231050G>A	ENST00000558518.1	+	14	2179	c.1992G>A	c.(1990-1992)gtG>gtA	p.V664V	LDLR_ENST00000545707.1_Intron|LDLR_ENST00000455727.2_Silent_p.V496V|LDLR_ENST00000558013.1_Silent_p.V664V|LDLR_ENST00000557933.1_Silent_p.V664V|LDLR_ENST00000535915.1_Silent_p.V623V	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	664	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCCCAGGAGTGAACTGGTGTG	0.557																																					GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)											54	55	54					19																	11231050		2203	4300	6503	SO:0001819	synonymous_variant	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1992G>A	19.37:g.11231050G>A			B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V664	ENST00000558518.1	37	c.1992	CCDS12254.1	19																																																																																			LDLR	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000130164		0.557	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2	-	0	49	0	G			11231050	1	tier1	-	no_errors	ENST00000558518	ensembl	human	known	74_37	silent	21.15	41	11	SNP	0.012	A	A	11231050	G	A	11231050	2	1	10	1	0	0	0	0	0	0	0	1	8732	1277	45	3		3	LDLR	19	11231050	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	2204738	11231050	47897933	217	2838											
CCDC159	126075	genome.wustl.edu	37	chr19	11461552	11461552	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatggagcagggccggCaggagctgtatggggccctg	6	5	21	9	1	0	0	0	0	0	0	0	2	0	2	2	8	2	5	2	8	1	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:11461552C>T	ENST00000588790.1	+	7	742	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	CCDC159_ENST00000458408.1_Nonsense_Mutation_p.Q99*			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	214										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GCAGGGCCGGCAGGAGCTGTA	0.662																																																	0													11	14	13					19																	11461552		2000	4076	6076	SO:0001587	stop_gained	0			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.295C>T	19.37:g.11461552C>T	ENSP00000468232:p.Gln99*		B4DEG3|B4DWR8|B4E133|B7ZAM4	Nonsense_Mutation	SNP	NULL	p.Q99*	ENST00000588790.1	37	c.295	CCDS45976.1	19	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667475	0.88348	.	.	ENSG00000183401	ENST00000458408;ENST00000427879	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.7393	13.9528	0.64129	0.0:1.0:0.0:0.0	.	.	.	.	X	99;214	.	ENSP00000390400:Q214X	Q	+	1	0	CCDC159	11322552	0.989000	0.36119	0.946000	0.38457	0.582000	0.36321	1.621000	0.36986	2.366000	0.80165	0.478000	0.44815	CAG	CCDC159	-	NULL	ENSG00000183401		0.662	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1		0	101	0	C	NM_001080503		11461552	1			no_errors	ENST00000458408	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	0.973	T	T	11461552	C	T	11461552	4	4	10	1	0	0	0	0	0	1	0	0	2798	711	25	3	313	3	CCDC159	19	11461552	Nonsense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	230502	11461552	47667431	218	2839											
KLHL26	55295	genome.wustl.edu	37	chr19	18779956	18779956	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgtacaggtgtacaacacGgacaccgacgagtgggagcg	12	5	14	10	5	0	0	0	0	0	0	1	4	0	2	1	3	4	2	1	3	3	2	rs368665940		TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:18779956G>A	ENST00000300976.4	+	3	1839	c.1749G>A	c.(1747-1749)acG>acA	p.T583T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	583										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGTACAACACGGACACCGACG	0.657																																																	0													29	32	31					19																	18779956		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1749G>A	19.37:g.18779956G>A			Q8TAP0|Q9NUX3	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T583	ENST00000300976.4	37	c.1749	CCDS12384.1	19																																																																																			KLHL26	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000167487		0.657	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	HGNC	protein_coding	OTTHUMT00000465145.1	-	0	112	0	G	NM_018316		18779956	1	tier1	-	no_errors	ENST00000300976	ensembl	human	known	74_37	silent	25.25	74	25	SNP	0.000	A	A	18779956	G	A	18779956	2	1	10	1	0	0	0	0	0	0	0	1	8408	1103	39	1		1	KLHL26	19	18779956	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	7318404	18779956	40349027	219	2840											
ZNF493	284443	genome.wustl.edu	37	chr19	21606380	21606380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttttaaccaatcttcaAcccttactggacataagata	16	12	3	10	0	2	1	1	0	1	1	2	2	2	2	2	1	4	0	2	1	7	6			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:21606380A>C	ENST00000355504.4	+	2	801	c.535A>C	c.(535-537)Acc>Ccc	p.T179P	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.T307P	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCAATCTTCAACCCTTACTGG	0.328																																																	0													46	48	47					19																	21606380		2203	4296	6499	SO:0001583	missense	0			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.535A>C	19.37:g.21606380A>C	ENSP00000347691:p.Thr179Pro		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T179P	ENST00000355504.4	37	c.535	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	1.523	-0.546369	0.04024	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.15603	2.41;2.41	0.985	-1.97	0.07503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20007	0.0481	L	0.31120	0.905	0.18873	N	0.999989	D;D	0.69078	0.997;0.995	D;P	0.70935	0.971;0.77	T	0.12451	-1.0547	9	0.33141	T	0.24	.	2.8179	0.05463	0.3429:0.267:0.3902:0.0	.	179;307	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	P	307;179	ENSP00000376110:T307P;ENSP00000347691:T179P	ENSP00000347691:T179P	T	+	1	0	ZNF493	21398220	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-4.429000	0.00235	-0.797000	0.04450	-0.836000	0.03065	ACC	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196268		0.328	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1	-	0	47	0	A	NM_175910		21606380	1	tier1	-	no_errors	ENST00000355504	ensembl	human	known	74_37	missense	27.91	30	12	SNP	0.068	C	C	21606380	A	C	21606380	3	2	10	1	0	0	0	0	1	0	0	0	17992	43	2	4	996	4	ZNF493	19	21606380	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	2826424	21606380	37522603	220	2841											
ZNF99	7652	genome.wustl.edu	37	chr19	22952779	22952779	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacatttttcagaccaaaaAgacatgttgagttagaagac	16	11	8	6	0	1	5	1	1	0	4	1	5	1	5	1	0	1	3	1	0	5	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:22952779A>G	ENST00000596209.1	-	2	94				ZNF99_ENST00000397104.3_Silent_p.S2S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CAGACCAAAAAGACATGTTGA	0.279																																																	0													66	66	66					19																	22952779		1815	4061	5876	SO:0001627	intron_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.4-653T>C	19.37:g.22952779A>G			M0R335	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S2	ENST00000596209.1	37	c.6	CCDS59369.1	19																																																																																			ZNF99	-	NULL	ENSG00000213973		0.279	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	74	0	A	XM_065124		22952779	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	silent	18.97	47	11	SNP	0.017	G	G	22952779	A	G	22952779	1	3	10	0	1	0	0	0	0	0	0	0	18252	59	3	4		4	ZNF99	19	22952779	Intron	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	1346399	22952779	36176204	221	2842											
GAPDHS	26330	genome.wustl.edu	37	chr19	36033272	36033272	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggagcccctacgtggtGgagtccacaggcgtgtacct	6	8	15	12	3	0	0	0	0	0	0	2	2	1	2	4	4	3	1	4	4	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:36033272G>T	ENST00000222286.4	+	5	617	c.501G>T	c.(499-501)gtG>gtT	p.V167V	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000444728.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	167					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTACGTGGTGGAGTCCACAG	0.637																																																	0													52	51	51					19																	36033272		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.501G>T	19.37:g.36033272G>T			B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.V167	ENST00000222286.4	37	c.501	CCDS12465.1	19																																																																																			GAPDHS	-	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000105679		0.637	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	-	0	39	0	G	NM_014364		36033272	1	tier1	-	no_errors	ENST00000222286	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.761	T	T	36033272	G	T	36033272	2	4	10	1	0	0	0	0	0	0	0	1	6262	1335	47	3		3	GAPDHS	19	36033272	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	13080493	36033272	23095711	222	2843											
RASGRP4	115727	genome.wustl.edu	37	chr19	38901801	38901801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgggacaggagctccgggGggtcctgcatcgcccttggc	5	7	17	12	2	0	0	0	0	0	0	3	3	2	2	3	6	2	2	3	6	0	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:38901801G>A	ENST00000587738.1	-	15	1876	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	RASGRP4_ENST00000426920.2_Silent_p.P413P|RASGRP4_ENST00000586305.1_Silent_p.P588P|RASGRP4_ENST00000293062.9_Silent_p.P505P|RASGRP4_ENST00000433821.2_Silent_p.P510P|RASGRP4_ENST00000587753.1_Silent_p.P533P|RASGRP4_ENST00000454404.2_Silent_p.P568P			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	602					activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGCTCCGGGGGGTCCTGCAT	0.627																																																	0													65	72	70					19																	38901801		2016	4176	6192	SO:0001819	synonymous_variant	0			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1806C>T	19.37:g.38901801G>A			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.P602	ENST00000587738.1	37	c.1806	CCDS46068.1	19																																																																																			RASGRP4	-	NULL	ENSG00000171777		0.627	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	-	0	45	0	G	NM_170604		38901801	-1	tier1	-	no_errors	ENST00000587738	ensembl	human	known	74_37	silent	18.18	54	12	SNP	0.613	A	A	38901801	G	A	38901801	2	1	10	1	0	0	0	0	0	0	0	1	13122	1219	43	3		3	RASGRP4	19	38901801	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	2868529	38901801	20227182	223	2844											
TIMM50	92609	genome.wustl.edu	37	chr19	39979266	39979266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcggctttcaaacagcGgcaaagccggctagagcagg	10	5	15	11	3	1	1	1	0	0	1	1	1	1	1	1	5	4	5	1	5	3	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:39979266G>T	ENST00000607714.1	+	10	963	c.941G>T	c.(940-942)cGg>cTg	p.R314L	TIMM50_ENST00000314349.4_Missense_Mutation_p.R417L|TIMM50_ENST00000544017.1_Missense_Mutation_p.R201L|TIMM50_ENST00000599794.1_Missense_Mutation_p.R118L			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	314					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCAAACAGCGGCAAAGCCGG	0.612																																																	0													77	79	78					19																	39979266		2203	4300	6503	SO:0001583	missense	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.941G>T	19.37:g.39979266G>T	ENSP00000475531:p.Arg314Leu		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.R417L	ENST00000607714.1	37	c.1250		19	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324511	0.60634	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.74535	0.3729	L	0.51422	1.61	0.80722	D	1	P;D	0.89917	0.841;1.0	B;D	0.87578	0.204;0.998	T	0.72590	-0.4247	8	.	.	.	-20.3605	17.3949	0.87442	0.0:0.0:1.0:0.0	.	314;417	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	L	417;201	.	.	R	+	2	0	TIMM50	44671106	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	9.159000	0.94728	2.645000	0.89757	0.561000	0.74099	CGG	TIMM50	-	NULL	ENSG00000105197		0.612	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1		0	15	0	G	NM_001001563		39979266	1			no_errors	ENST00000314349	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	39979266	G	T	39979266	3	4	10	1	0	0	0	0	1	0	0	0	15960	1116	39	2	1288	2	TIMM50	19	39979266	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	1077465	39979266	19149717	224	2845											
GYS1	2997	genome.wustl.edu	37	chr19	49490517	49490517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctcgcggtcgtaccaCggcactccgatgttgcaggt	5	10	13	13	5	0	0	0	0	0	0	3	1	1	0	3	4	2	4	3	4	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:49490517C>T	ENST00000323798.3	-	3	622	c.426G>A	c.(424-426)ccG>ccA	p.P142P	GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Intron|GYS1_ENST00000541188.1_Silent_p.P62P|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Silent_p.P62P	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	142					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		GGTCGTACCACGGCACTCCGA	0.632																																																	0													89	64	73					19																	49490517		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.426G>A	19.37:g.49490517C>T			Q9BTT9	Silent	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.P142	ENST00000323798.3	37	c.426	CCDS12747.1	19																																																																																			GYS1	-	pfam_Glycogen_synth	ENSG00000104812		0.632	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	-	0	76	0	C	NM_002103		49490517	-1	tier1	-	no_errors	ENST00000323798	ensembl	human	known	74_37	silent	45.16	34	28	SNP	0.892	T	T	49490517	C	T	49490517	2	4	10	1	0	0	0	0	0	0	0	1	6939	523	19	1		1	GYS1	19	49490517	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	9511251	49490517	9638466	225	2846											
ZNF628	89887	genome.wustl.edu	37	chr19	55994931	55994931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggagcggccagcgctGgggccagcgggacagggcag	7	2	21	11	3	0	0	0	0	0	0	0	2	0	2	2	6	4	3	2	6	0	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:55994931G>C	ENST00000598519.1	+	3	2924	c.2371G>C	c.(2371-2373)Ggg>Cgg	p.G791R	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.G787R|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	791	Gly-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GGCCAGCGCTGGGGCCAGCGG	0.721																																																	0													15	21	19					19																	55994931		2171	4255	6426	SO:0001583	missense	0			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"Zinc fingers, C2H2-type"	28054	protein-coding gene	gene with protein product	"Zinc finger expressed in Embryonal cells and Certain adult organs"	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2371G>C	19.37:g.55994931G>C	ENSP00000469591:p.Gly791Arg		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G791R	ENST00000598519.1	37	c.2371	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	9.161	1.018820	0.19355	.	.	ENSG00000197483	ENST00000391718	T	0.06687	3.27	3.71	2.67	0.31697	.	1.282590	0.06063	U	0.658739	T	0.06690	0.0171	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20338	-1.0278	10	0.87932	D	0	-11.4184	6.4282	0.21782	0.1334:0.0:0.8666:0.0	.	787	Q5EBL2	ZN628_HUMAN	R	787	ENSP00000375598:G787R	ENSP00000375598:G787R	G	+	1	0	ZNF628	60686743	0.000000	0.05858	0.118000	0.21660	0.186000	0.23388	0.008000	0.13197	2.068000	0.61886	0.462000	0.41574	GGG	ZNF628	-	NULL	ENSG00000197483		0.721	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	-	0	51	0	G	XM_058964		55994931	1	tier1	-	no_errors	ENST00000598519	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.023	C	C	55994931	G	C	55994931	3	2	10	1	0	0	0	0	1	0	0	0	18100	1348	47	5	2361	5	ZNF628	19	55994931	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	6504414	55994931	3134052	226	2847											
ZFP28	140612	genome.wustl.edu	37	chr19	57066422	57066422	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcatactggagaaaaaccTtatgaatgcagtgtgtgtgg	13	11	12	5	0	1	2	1	1	0	1	1	3	1	2	1	2	3	1	1	2	5	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr19:57066422T>G	ENST00000301318.3	+	8	2339	c.2268T>G	c.(2266-2268)ccT>ccG	p.P756P	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	756					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAGAAAAACCTTATGAATGCA	0.398																																					Ovarian(124;554 1662 19430 21141 52494)												0													133	122	126					19																	57066422		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2268T>G	19.37:g.57066422T>G			A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P756	ENST00000301318.3	37	c.2268	CCDS12946.1	19																																																																																			ZFP28	-	pfscan_Znf_C2H2	ENSG00000196867		0.398	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	-	0	62	0	T	NM_020828		57066422	1	tier1	-	no_errors	ENST00000301318	ensembl	human	known	74_37	silent	14.08	61	10	SNP	0.751	G	G	57066422	T	G	57066422	2	3	10	1	0	0	0	0	0	0	0	1	17690	1596	56	4		4	ZFP28	19	57066422	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	1071491	57066422	2062561	227	2848											
TMEM90B	79953	genome.wustl.edu	37	chr20	24524097	24524097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgaggaccggtcgcccAccaaagacagcctcgagtac	11	5	10	15	4	1	1	1	0	0	1	4	4	1	2	4	2	2	1	4	2	2	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:24524097A>G	ENST00000376862.3	+	2	997	c.364A>G	c.(364-366)Acc>Gcc	p.T122A		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	122					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCGGTCGCCCACCAAAGACAG	0.592																																																	0													74	77	76					20																	24524097		2203	4300	6503	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.364A>G	20.37:g.24524097A>G	ENSP00000366058:p.Thr122Ala		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.T122A	ENST00000376862.3	37	c.364	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571892	0.28003	.	.	ENSG00000101463	ENST00000376862	D	0.90385	-2.66	5.61	3.32	0.38043	.	0.254858	0.39407	N	0.001378	T	0.81394	0.4813	L	0.31294	0.92	0.39863	D	0.973407	B	0.15473	0.013	B	0.10450	0.005	T	0.70938	-0.4736	10	0.17832	T	0.49	-56.5598	6.3701	0.21477	0.7552:0.1611:0.0837:0.0	.	122	Q9H7V2	SYNG1_HUMAN	A	122	ENSP00000366058:T122A	ENSP00000366058:T122A	T	+	1	0	SYNDIG1	24472097	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.056000	0.30480	0.921000	0.36994	0.533000	0.62120	ACC	SYNDIG1	-	NULL	ENSG00000101463		0.592	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0	49	0	A	NM_024893		24524097	1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	9.52	37	4	SNP	0.993	G	G	24524097	A	G	24524097	3	3	10	1	0	0	0	0	1	0	0	0	16266	159	6	4	366	4	TMEM90B	20	24524097	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09		24524097	38501423	228	2849											
ITCH	83737	genome.wustl.edu	37	chr20	33000369	33000369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcgtgtgtggagtcaccaGacactgaaatctgatgtttt	9	15	10	7	1	2	3	1	2	1	1	3	4	2	4	1	1	0	1	1	1	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:33000369G>C	ENST00000262650.6	+	5	397	c.261G>C	c.(259-261)caG>caC	p.Q87H	ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000374864.4_Missense_Mutation_p.Q87H			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	87	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGAGTCACCAGACACTGAAAT	0.303																																																	0													89	83	85					20																	33000369		2202	4299	6501	SO:0001583	missense	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"itchy (mouse homolog) E3 ubiquitin protein ligase", "itchy E3 ubiquitin protein ligase homolog (mouse)"			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.261G>C	20.37:g.33000369G>C	ENSP00000262650:p.Gln87His		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.Q87H	ENST00000262650.6	37	c.261	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493096	0.26774	.	.	ENSG00000078747	ENST00000374864;ENST00000262650	T;T	0.66995	-0.24;-0.24	5.9	5.9	0.94986	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	N	0.03016	-0.435	0.80722	D	1	D;B	0.71674	0.998;0.017	D;B	0.85130	0.997;0.048	T	0.57069	-0.7874	10	0.02654	T	1	.	14.4406	0.67314	0.072:0.0:0.928:0.0	.	87;87	Q96J02;Q5QP37	ITCH_HUMAN;.	H	87	ENSP00000363998:Q87H;ENSP00000262650:Q87H	ENSP00000262650:Q87H	Q	+	3	2	ITCH	32464030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.793000	0.96121	0.563000	0.77884	CAG	ITCH	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000078747		0.303	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	-	0	56	0	G			33000369	1	tier1	-	no_errors	ENST00000262650	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	C	C	33000369	G	C	33000369	3	2	10	1	0	0	0	0	1	0	0	0	7895	933	33	5	271	5	ITCH	20	33000369	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	8476272	33000369	30025151	229	2850											
ZGPAT	84619	genome.wustl.edu	37	chr20	62364648	62364648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgagctccctgcaggccgGctctgcgtgtctggccaagc	4	8	13	16	2	2	1	0	1	2	0	3	1	3	1	4	3	4	3	4	3	1	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr20:62364648G>T	ENST00000328969.5	+	3	789	c.662G>T	c.(661-663)gGc>gTc	p.G221V	ZGPAT_ENST00000355969.6_Missense_Mutation_p.G221V|ZGPAT_ENST00000478385.1_3'UTR|ZGPAT_ENST00000357119.4_Missense_Mutation_p.G221V|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.A127S|ZGPAT_ENST00000369967.3_Missense_Mutation_p.G221V|ZGPAT_ENST00000448100.2_Missense_Mutation_p.G221V	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	221					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTGCAGGCCGGCTCTGCGTGT	0.687																																																	0													33	32	32					20																	62364648		2203	4300	6503	SO:0001583	missense	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"Zinc fingers, CCCH-type domain containing", "G patch domain containing"	15948	protein-coding gene	gene with protein product			"KIAA1847"	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.662G>T	20.37:g.62364648G>T	ENSP00000332013:p.Gly221Val		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom	p.G221V	ENST00000328969.5	37	c.662	CCDS13534.1	20	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839361	0.91117	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.97455	0.9167	M	0.78637	2.42	0.80722	D	1	D;D;D	0.69078	0.987;0.99;0.997	P;P;D	0.66351	0.906;0.856;0.943	D	0.98003	1.0361	10	0.87932	D	0	-1.343	17.6358	0.88122	0.0:0.0:1.0:0.0	.	221;221;221	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	V	221	ENSP00000391176:G221V;ENSP00000348242:G221V;ENSP00000349634:G221V;ENSP00000358984:G221V;ENSP00000332013:G221V	ENSP00000332013:G221V	G	+	2	0	ZGPAT	61835092	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	8.881000	0.92415	2.599000	0.87857	0.591000	0.81541	GGC	ZGPAT	-	NULL	ENSG00000197114		0.687	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1		0	60	0	G	NM_181484		62364648	1			no_errors	ENST00000328969	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	62364648	G	T	62364648	3	4	10	1	0	0	0	0	1	0	0	0	17722	1203	42	3	668	3	ZGPAT	20	62364648	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	29364279	62364648	660872	230	2851											
KRTAP26-1	388818	genome.wustl.edu	37	chr21	31692195	31692195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctcttggcagttgtcTgtgacccaggtatggtcttg	5	14	13	9	0	3	1	0	1	3	0	4	1	3	1	1	4	0	3	1	4	1	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr21:31692195T>C	ENST00000360542.3	-	1	412	c.159A>G	c.(157-159)acA>acG	p.T53T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	53						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GGCAGTTGTCTGTGACCCAGG	0.552																																																	0													124	121	122					21																	31692195		2203	4300	6503	SO:0001819	synonymous_variant	0			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.159A>G	21.37:g.31692195T>C			B0RZD3	Silent	SNP	pfam_KRTAP_PMG	p.T53	ENST00000360542.3	37	c.159	CCDS13588.1	21																																																																																			KRTAP26-1	-	pfam_KRTAP_PMG	ENSG00000197683		0.552	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP26-1	HGNC	protein_coding	OTTHUMT00000128218.1	-	0	44	0	T	NM_203405		31692195	-1	tier1	-	no_errors	ENST00000360542	ensembl	human	known	74_37	silent	35.00	39	21	SNP	0.206	C	C	31692195	T	C	31692195	2	2	10	1	0	0	0	0	0	0	0	1	8571	1567	55	4		4	KRTAP26-1	21	31692195	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09		31692195	16437700	231	2852											
MYO18B	84700	genome.wustl.edu	37	chr22	26243569	26243569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatatcccagcactgagggTccagcttgctgggttccaca	8	9	12	12	0	0	1	0	1	0	0	3	2	3	2	3	3	3	4	3	3	1	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:26243569T>C	ENST00000407587.2	+	20	3897	c.3728T>C	c.(3727-3729)gTc>gCc	p.V1243A	MYO18B_ENST00000536101.1_Missense_Mutation_p.V1242A|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1242A			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1242	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCACTGAGGGTCCAGCTTGCT	0.592																																																	0													24	28	27					22																	26243569		2081	4204	6285	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3728T>C	22.37:g.26243569T>C	ENSP00000386096:p.Val1243Ala		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1242A	ENST00000407587.2	37	c.3725		22	.	.	.	.	.	.	.	.	.	.	T	1.454	-0.564304	0.03939	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.70749	-0.51;-0.51;-0.51	4.41	3.38	0.38709	Myosin head, motor domain (2);	0.503855	0.20319	N	0.094677	T	0.47893	0.1470	N	0.25890	0.77	0.30849	N	0.734775	B;B;B;B	0.31026	0.003;0.304;0.138;0.259	B;B;B;B	0.26310	0.006;0.068;0.04;0.041	T	0.47898	-0.9081	10	0.02654	T	1	.	7.8856	0.29648	0.0:0.0993:0.0:0.9007	.	755;1242;1243;1242	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	A	1242;1242;1243	ENSP00000441229:V1242A;ENSP00000334563:V1242A;ENSP00000386096:V1243A	ENSP00000334563:V1242A	V	+	2	0	MYO18B	24573569	0.224000	0.23674	0.987000	0.45799	0.203000	0.24098	0.551000	0.23361	0.749000	0.32854	0.454000	0.30748	GTC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	45	0	T	NM_032608		26243569	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.996	C	C	26243569	T	C	26243569	3	2	10	1	0	0	0	0	1	0	0	0	10104	1667	58	4	3799	4	MYO18B	22	26243569	Missense_Mutation	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09		26243569	25060997	232	2853											
TMPRSS6	164656	genome.wustl.edu	37	chr22	37480411	37480411	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcagtgcataggcatcaaAccagagggccaagccgtagt	12	6	11	12	1	2	1	2	0	0	1	2	1	2	1	4	2	3	3	4	2	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:37480411A>C	ENST00000346753.3	-	10	1263	c.1147T>G	c.(1147-1149)Ttt>Gtt	p.F383V	RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000381792.2_Missense_Mutation_p.F374V|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.F383V|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.F374V|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.F374V	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	383	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGGCATCAAACCAGAGGGCC	0.617																																																	0													89	59	69					22																	37480411		2203	4300	6503	SO:0001583	missense	0			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1147T>G	22.37:g.37480411A>C	ENSP00000334962:p.Phe383Val		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.F374V	ENST00000346753.3	37	c.1120	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463778	0.84425	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000429068;ENST00000442782	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	4.29	4.29	0.51040	CUB (4);	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	M	0.79475	2.455	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.74348	0.983;0.951;0.895	T	0.58978	-0.7540	10	0.56958	D	0.05	.	12.6213	0.56605	1.0:0.0:0.0:0.0	.	383;374;383	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	V	374;383;374;374;45;383	ENSP00000371211:F374V;ENSP00000334962:F383V;ENSP00000385453:F374V;ENSP00000384964:F374V;ENSP00000392433:F45V;ENSP00000397691:F383V	ENSP00000334962:F383V	F	-	1	0	TMPRSS6	35810357	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	8.822000	0.92013	1.578000	0.49821	0.482000	0.46254	TTT	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom,pfscan_CUB_dom	ENSG00000187045		0.617	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	-	0	39	0	A	NM_153609		37480411	-1	tier1	-	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	C	C	37480411	A	C	37480411	3	2	10	1	0	0	0	0	1	0	0	0	16298	43	2	4	1324	4	TMPRSS6	22	37480411	Missense_Mutation	SNP	A	TCGA-2H-A9GO-01A-11D-A37C-09	11236842	37480411	13824155	233	2854											
XPNPEP3	63929	genome.wustl.edu	37	chr22	41277988	41277988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattccaagagcctgatagCattcttgtccttcagagcct	9	12	9	11	0	2	3	1	1	1	2	4	4	4	4	4	1	3	1	4	1	2	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chr22:41277988C>A	ENST00000357137.4	+	3	480	c.396C>A	c.(394-396)agC>agA	p.S132R	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.S132R|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.S109R|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.S132R	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	132					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCCTGATAGCATTCTTGTCC	0.463																																					Ovarian(145;306 1841 7037 21878 30110)												0													149	129	136					22																	41277988		2203	4300	6503	SO:0001583	missense	0				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.396C>A	22.37:g.41277988C>A	ENSP00000349658:p.Ser132Arg		B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.S132R	ENST00000357137.4	37	c.396	CCDS14007.1	22	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109764	0.56398	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.7	3.62	0.41486	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	M	0.91038	3.17	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90589	0.4535	10	0.87932	D	0	.	12.4334	0.55586	0.0:0.8636:0.0:0.1364	.	132;132	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	R	132;132;132;109	ENSP00000443682:S132R;ENSP00000397110:S132R;ENSP00000349658:S132R;ENSP00000441942:S109R	ENSP00000349658:S132R	S	+	3	2	XPNPEP3	39607934	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	1.922000	0.40045	0.770000	0.33336	-0.261000	0.10672	AGC	XPNPEP3	-	pfam_Aminopep_P_N	ENSG00000196236		0.463	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP3	HGNC	protein_coding	OTTHUMT00000322201.2	-	0	49	0	C	NM_022098		41277988	1	tier1	-	no_errors	ENST00000357137	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	41277988	C	A	41277988	3	1	10	1	0	0	0	0	1	0	0	0	17493	709	25	3	406	3	XPNPEP3	22	41277988	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	3797577	41277988	10026578	234	2855											
SLC25A6	293	genome.wustl.edu	37	chrX	1508156	1508156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggccgtatcgtacacgccGaagtaggccgcccggtagat	8	8	13	12	6	0	1	0	0	0	1	1	2	0	1	4	3	1	4	4	3	5	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:1508156G>A	ENST00000381401.5	-	2	1290	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	192					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CGTACACGCCGAAGTAGGCCG	0.622													g|||	0	0	0	0	5008	,	,		17555	0		0	False		,,,				2504	0																0													91	88	89					X																	1508156		2203	4296	6499	SO:0001819	synonymous_variant	0			AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"Pseudoautosomal regions / PAR1", "Solute carriers"	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.576C>T	X.37:g.1508156G>A			Q96C49	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.F192	ENST00000381401.5	37	c.576	CCDS14114.1	X																																																																																			SLC25A6	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000169100		0.622	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A6	HGNC	protein_coding	OTTHUMT00000055596.1	-	0	78	0	G	NM_001636		1508156	-1	tier1	-	no_errors	ENST00000381401	ensembl	human	known	74_37	silent	48.68	39	37	SNP	1.000	A	A	1508156	G	A	1508156	2	1	10	1	0	0	0	0	0	0	0	1	14558	1049	37	1		1	SLC25A6	23	1508156	Silent	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09		1508156	153762404	235	2856											
VCX3B	425054	genome.wustl.edu	37	chrX	8434032	8434032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaggaaccactgagtcagGagagcgaggtggaagaacca	14	4	16	7	1	1	3	1	1	0	2	1	8	1	6	2	5	3	0	2	5	3	0			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:8434032G>A	ENST00000381032.1	+	3	656	c.349G>A	c.(349-351)Gag>Aag	p.E117K	VCX3B_ENST00000444481.1_Missense_Mutation_p.E117K|VCX3B_ENST00000440654.2_Splice_Site|VCX3B_ENST00000453306.1_Missense_Mutation_p.E117K|VCX3B_ENST00000381029.4_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	117	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						ACTGAGTCAGGAGAGCGAGGT	0.632																																																	0													3	6	6					X																	8434032		621	2632	3253	SO:0001583	missense	0				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.349G>A	X.37:g.8434032G>A	ENSP00000370420:p.Glu117Lys		C9JS46|Q4KN12	Splice_Site	SNP	-	e2+1	ENST00000381032.1	37	c.348+1	CCDS48077.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.890|0.890	-0.725713|-0.725713	0.03158|0.03158	.|.	.|.	ENSG00000205642|ENSG00000205642	ENST00000440654|ENST00000381032;ENST00000453306;ENST00000444481	.|T;T;T	.|0.21543	.|2.0;2.0;2.0	0.669|0.669	-0.578|-0.578	0.11724|0.11724	.|.	.|.	.|.	.|.	.|.	.|T	.|0.11836	.|0.0288	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16603	.|0.018;0.018	.|B;B	.|0.13407	.|0.009;0.009	.|T	.|0.32348	.|-0.9910	.|9	.|0.87932	.|D	.|0	.|.	1.5814|1.5814	0.02635|0.02635	0.2682:0.0:0.3892:0.3426|0.2682:0.0:0.3892:0.3426	.|.	.|117;117	.|Q9H321;E7ERZ8	.|VCX3B_HUMAN;.	.|K	-1|117	.|ENSP00000370420:E117K;ENSP00000411785:E117K;ENSP00000414780:E117K	.|ENSP00000370420:E117K	.|E	+|+	.|1	.|0	VCX3B|VCX3B	8394032|8394032	0.283000|0.283000	0.24277|0.24277	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	0.969000|0.969000	0.29370|0.29370	-0.220000|-0.220000	0.09988|0.09988	-0.791000|-0.791000	0.03333|0.03333	.|GAG	VCX3B	-	-	ENSG00000205642		0.632	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	-	0	46	0	G			8434032	1	tier1	-	no_errors	ENST00000440654	ensembl	human	known	74_37	splice_site	44.19	24	19	SNP	0.007	A	A	8434032	G	A	8434032	3	1	10	1	0	0	0	0	1	0	0	0	17194	1175	41	3	355	3	VCX3B	23	8434032	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	6925876	8434032	146836528	236	2857											
KLHL15	80311	genome.wustl.edu	37	chrX	24006110	24006110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catacttgtaaaccatccagCttgcagggcatccgagggta	11	9	10	11	1	0	0	0	0	0	0	2	1	2	0	3	2	4	5	3	2	4	5			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:24006110C>G	ENST00000328046.8	-	4	1998	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	581					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AACCATCCAGCTTGCAGGGCA	0.463																																																	0													126	102	111					X																	24006110		2203	4300	6503	SO:0001583	missense	0			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"Kelch-like", "BTB/POZ domain containing"	29347	protein-coding gene	gene with protein product			"kelch-like 15 (Drosophila)"			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1743G>C	X.37:g.24006110C>G	ENSP00000332791:p.Lys581Asn		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K581N	ENST00000328046.8	37	c.1743	CCDS35217.1	X	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528402	0.44969	.	.	ENSG00000174010	ENST00000328046	T	0.67345	-0.26	5.94	4.17	0.49024	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	L	0.39898	1.24	0.50813	D	0.999892	D	0.57899	0.981	D	0.67231	0.95	T	0.69826	-0.5040	10	0.35671	T	0.21	.	12.1651	0.54125	0.0:0.8562:0.0:0.1438	.	581	Q96M94	KLH15_HUMAN	N	581	ENSP00000332791:K581N	ENSP00000332791:K581N	K	-	3	2	KLHL15	23916031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.898000	0.39809	1.256000	0.44068	0.506000	0.49869	AAG	KLHL15	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000174010		0.463	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	-	0	30	0	C	XM_040383		24006110	-1	tier1	-	no_errors	ENST00000328046	ensembl	human	known	74_37	missense	58.97	16	23	SNP	1.000	G	G	24006110	C	G	24006110	3	3	10	1	0	0	0	0	1	0	0	0	8398	796	28	5	75	5	KLHL15	23	24006110	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	15572078	24006110	131264450	237	2858											
PCYT1B	9468	genome.wustl.edu	37	chrX	24665159	24665159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccatggtttctgagggagGctcattggaaagggattttg	8	13	14	6	0	2	1	1	1	1	0	3	4	3	4	1	5	0	2	1	5	1	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:24665159G>A	ENST00000379144.2	-	1	194	c.64C>T	c.(64-66)Cct>Tct	p.P22S	PCYT1B_ENST00000379145.1_Intron|PCYT1B_ENST00000356768.4_Missense_Mutation_p.P22S	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	22					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TCTGAGGGAGGCTCATTGGAA	0.483																																																	0													201	150	167					X																	24665159		2203	4300	6503	SO:0001583	missense	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.64C>T	X.37:g.24665159G>A	ENSP00000368439:p.Pro22Ser		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.P22S	ENST00000379144.2	37	c.64	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	g	7.377	0.628074	0.14257	.	.	ENSG00000102230	ENST00000379144;ENST00000356768	.	.	.	4.88	4.88	0.63580	.	0.324811	0.25925	N	0.027412	T	0.38983	0.1061	N	0.14661	0.345	0.42943	D	0.994354	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.0	T	0.26608	-1.0098	9	0.09084	T	0.74	-7.5108	15.9172	0.79531	0.0:0.0:1.0:0.0	.	22;22	Q9Y5K3-2;Q9Y5K3	.;PCY1B_HUMAN	S	22	.	ENSP00000349211:P22S	P	-	1	0	PCYT1B	24575080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.794000	0.62482	2.272000	0.75746	0.585000	0.79938	CCT	PCYT1B	-	NULL	ENSG00000102230		0.483	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1		0	28	0	G	NM_004845		24665159	-1			no_errors	ENST00000379144	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	24665159	G	A	24665159	3	1	10	1	0	0	0	0	1	0	0	0	11650	1203	42	3	1114	3	PCYT1B	23	24665159	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	659049	24665159	130605401	238	2859											
MAGEB3	4114	genome.wustl.edu	37	chrX	30254368	30254368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtgcagtctcgcacagaCcctctaatcatgaagacaaa	14	8	7	12	1	3	3	1	1	2	2	4	3	3	3	1	0	1	2	1	0	3	1			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:30254368C>T	ENST00000361644.2	+	5	1064	c.327C>T	c.(325-327)gaC>gaT	p.D109D		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	109										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CTCGCACAGACCCTCTAATCA	0.393																																																	0													56	48	51					X																	30254368		2202	4300	6502	SO:0001819	synonymous_variant	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.327C>T	X.37:g.30254368C>T			A0AVE4|B3KQ52|O75861	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D109	ENST00000361644.2	37	c.327	CCDS14220.1	X																																																																																			MAGEB3	-	NULL	ENSG00000198798		0.393	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	-	0	19	0	C	NM_002365		30254368	1	tier1	-	no_errors	ENST00000361644	ensembl	human	known	74_37	silent	65.62	11	21	SNP	0.000	T	T	30254368	C	T	30254368	2	4	10	1	0	0	0	0	0	0	0	1	9215	506	18	3		3	MAGEB3	23	30254368	Silent	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	5589209	30254368	125016192	239	2860											
TSPAN7	7102	genome.wustl.edu	37	chrX	38525478	38525479	+	Missense_Mutation	DNP	TC	TC	AT																															cacaaatgctccctatgtgcTcatcggaactggcaccacta																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:38525478_38525479TC>AT	ENST00000378482.2	+	2	362_363	c.185_186TC>AT	c.(184-186)cTC>cAT	p.L62H	TSPAN7_ENST00000422612.2_Missense_Mutation_p.L88H|TSPAN7_ENST00000286824.6_Missense_Mutation_p.L79H|TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000545599.1_Missense_Mutation_p.L36H|TM4SF2_ENST00000465127.1_Missense_Mutation_p.L92H	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	62					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTATGTGCTCATCGGAACTG	0.505																																																	0																																										SO:0001583	missense	0			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	Exception_encountered	X.37:g.38525478_38525479delinsAT	ENSP00000367743:p.Leu62His		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation|Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L88H|p.L88	ENST00000378482.2	37	c.263|c.264	CCDS14248.1	X																																																																																			TSPAN7	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000156298		0.505	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	HGNC	protein_coding	OTTHUMT00000356412.1	-	0	59|58	0	T|C			38525478|38525479	1	tier1	-	no_errors	ENST00000422612	ensembl	human	known	74_37	missense|silent	5.33|5.56	71|68	4	SNP	1.000	A|T	AT	38525479	TC	AT	38525478	3	1	10	1	0	0	0	0	1	0	0	0	16700	1551	54	5	191	5	TSPAN7	23	38525478	Missense_Mutation	DNP	TC	TCGA-2H-A9GO-01A-11D-A37C-09	8271110	38525478	116745082	240	2861											
PHKA1	5255	genome.wustl.edu	37	chrX	71933721	71933721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccggagttactccggCtcctcatggcgacacgttac	7	8	11	15	4	1	0	1	0	0	0	3	3	3	2	4	4	2	3	4	4	2	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:71933721C>T	ENST00000373542.4	-	1	167	c.8G>A	c.(7-9)aGc>aAc	p.S3N	PHKA1-AS1_ENST00000420998.1_RNA|PHKA1_ENST00000339490.3_Missense_Mutation_p.S3N|PHKA1_ENST00000373539.3_Missense_Mutation_p.S3N|PHKA1_ENST00000373545.3_Missense_Mutation_p.S3N|PHKA1_ENST00000541944.1_Missense_Mutation_p.S3N	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	3					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTTACTCCGGCTCCTCATGGC	0.587																																																	0													56	46	49					X																	71933721		2203	4300	6503	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.8G>A	X.37:g.71933721C>T	ENSP00000362643:p.Ser3Asn		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.S3N	ENST00000373542.4	37	c.8	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507948	0.85282	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92858	-3.03;-3.12;-3.02;-3.09;-3.09	4.72	4.72	0.59763	Six-hairpin glycosidase-like (1);	0.041485	0.85682	D	0.000000	D	0.94072	0.8100	M	0.76170	2.325	0.80722	D	1	P;P;D	0.52996	0.799;0.694;0.957	B;B;P	0.54499	0.24;0.358;0.754	D	0.94257	0.7499	10	0.52906	T	0.07	-7.6833	14.4883	0.67631	0.0:1.0:0.0:0.0	.	3;3;3	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	N	3	ENSP00000362646:S3N;ENSP00000362643:S3N;ENSP00000441251:S3N;ENSP00000342469:S3N;ENSP00000362640:S3N	ENSP00000342469:S3N	S	-	2	0	PHKA1	71850446	1.000000	0.71417	0.998000	0.56505	0.372000	0.29890	7.415000	0.80131	2.087000	0.62958	0.529000	0.55759	AGC	PHKA1	-	superfamily_6-hairpin_glycosidase-like	ENSG00000067177		0.587	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	-	0	34	0	C			71933721	-1	tier1	-	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T	T	71933721	C	T	71933721	3	4	10	1	0	0	0	0	1	0	0	0	11882	797	28	3	3791	3	PHKA1	23	71933721	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	33408243	71933721	83336839	241	2862											
RPS6KA6	27330	genome.wustl.edu	37	chrX	83362682	83362682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaacaaaaagtatcatctgGttttccagaagcaggtttga	16	11	8	6	0	2	2	1	1	1	1	3	2	3	2	1	2	2	4	1	2	6	4			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:83362682G>A	ENST00000262752.2	-	13	1067	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P354S|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	354	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GTATCATCTGGTTTTCCAGAA	0.299																																																	0													53	50	51					X																	83362682		2203	4293	6496	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1060C>T	X.37:g.83362682G>A	ENSP00000262752:p.Pro354Ser		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.P354S	ENST00000262752.2	37	c.1060	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888740	0.52014	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.58652	0.32;0.32	4.11	4.11	0.48088	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.057413	0.64402	D	0.000001	T	0.50667	0.1629	L	0.41415	1.275	0.80722	D	1	B;B	0.21071	0.013;0.051	B;B	0.22152	0.038;0.038	T	0.51702	-0.8672	10	0.48119	T	0.1	.	15.9801	0.80102	0.0:0.0:1.0:0.0	.	354;354	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	354	ENSP00000262752:P354S;ENSP00000440830:P354S	ENSP00000262752:P354S	P	-	1	0	RPS6KA6	83249338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.129000	0.94430	1.759000	0.51996	0.600000	0.82982	CCA	RPS6KA6	-	pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II	ENSG00000072133		0.299	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	-	0	73	0	G	NM_014496		83362682	-1	tier1	-	no_errors	ENST00000262752	ensembl	human	known	74_37	missense	60.87	45	70	SNP	1.000	A	A	83362682	G	A	83362682	3	1	10	1	0	0	0	0	1	0	0	0	13700	1261	44	3	1217	3	RPS6KA6	23	83362682	Missense_Mutation	SNP	G	TCGA-2H-A9GO-01A-11D-A37C-09	11428961	83362682	71907878	242	2863											
COL4A6	1288	genome.wustl.edu	37	chrX	107413219	107413219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccggaagcccattcagtCcatgtaaaccaggaaatcca	13	7	8	13	1	1	0	1	0	0	0	3	2	3	2	5	2	3	1	5	2	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:107413219C>A	ENST00000372216.4	-	36	3624	c.3524G>T	c.(3523-3525)gGa>gTa	p.G1175V	COL4A6_ENST00000334504.7_Missense_Mutation_p.G1174V|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000545689.1_Intron|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1175V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1175	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCATTCAGTCCATGTAAACC	0.537									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													49	36	40					X																	107413219		2201	4295	6496	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3524G>T	X.37:g.107413219C>A	ENSP00000361290:p.Gly1175Val		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1175V	ENST00000372216.4	37	c.3524	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328169	0.60743	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389	D;D;D	0.99637	-6.29;-6.29;-6.29	4.43	4.43	0.53597	.	0.000000	0.41294	D	0.000908	D	0.99813	0.9918	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96561	0.9415	10	0.87932	D	0	.	17.21	0.86928	0.0:1.0:0.0:0.0	.	1175;1174	Q14031;Q14031-2	CO4A6_HUMAN;.	V	1175;1174;1175;1174	ENSP00000361290:G1175V;ENSP00000334733:G1174V;ENSP00000378340:G1175V	ENSP00000334733:G1174V	G	-	2	0	COL4A6	107299875	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.649000	0.74364	2.454000	0.82982	0.600000	0.82982	GGA	COL4A6	-	pfam_Collagen	ENSG00000197565		0.537	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0	49	0	C			107413219	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	63.64	24	42	SNP	1.000	A	A	107413219	C	A	107413219	3	1	10	1	0	0	0	0	1	0	0	0	3702	855	30	3	1591	3	COL4A6	23	107413219	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	24050537	107413219	47857341	243	2864											
NKRF	55922	genome.wustl.edu	37	chrX	118724446	118724446	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcaccaccaggtcttcTggtggcttcagagctggagg	7	8	13	13	0	3	1	1	0	2	1	3	2	3	2	3	5	2	3	3	5	0	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:118724446T>C	ENST00000371527.1	-	2	1594	c.942A>G	c.(940-942)ccA>ccG	p.P314P	NKRF_ENST00000304449.5_Silent_p.P314P|NKRF_ENST00000542113.1_Silent_p.P329P|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	314					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CCAGGTCTTCTGGTGGCTTCA	0.473																																																	0													77	79	78					X																	118724446		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.942A>G	X.37:g.118724446T>C			G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.P329	ENST00000371527.1	37	c.987	CCDS35375.1	X																																																																																			NKRF	-	NULL	ENSG00000186416		0.473	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	-	0	27	0	T	NM_017544		118724446	-1	tier1	-	no_errors	ENST00000542113	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.824	C	C	118724446	T	C	118724446	2	2	10	1	0	0	0	0	0	0	0	1	10486	1567	55	4		4	NKRF	23	118724446	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	11311227	118724446	36546114	244	2865											
HTATSF1	27336	genome.wustl.edu	37	chrX	135591328	135591330	+	In_Frame_Del	DEL	CTT	CTT	-																															ttggacaaattaggaaactcCttctctttgatgtaagttca																										TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:135591328_135591330delCTT	ENST00000218364.4	+	7	1087_1089	c.913_915delCTT	c.(913-915)cttdel	p.L306del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.L306del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	306	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAGGAAACTCCTTCTCTTTGATG	0.374																																																	0																																										SO:0001651	inframe_deletion	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"RNA binding motif (RRM) containing"	5276	protein-coding gene	gene with protein product		300346	"HIV TAT specific factor 1"			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.913_915delCTT	X.37:g.135591328_135591330delCTT	ENSP00000218364:p.Leu306del		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L306in_frame_del	ENST00000218364.4	37	c.913_915	CCDS14657.1	X																																																																																			HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000102241		0.374	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1		0	30	0	CTT	NM_014500		135591330	1	tier1		no_errors	ENST00000218364	ensembl	human	known	74_37	in_frame_del	35.56	29	16	DEL	1.000:1.000:0.999	-	-	135591330	CTT	-	135591328	7	5	10	1	0	1	0	1	0	0	0	0	7460	681	24	0	939	0	HTATSF1	23	135591328	In_Frame_Del	DEL	CTT	TCGA-2H-A9GO-01A-11D-A37C-09	16866882	135591328	19679232	245	2866											
SOX3	6658	genome.wustl.edu	37	chrX	139587001	139587001	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccagaaggctgtacatTgccggggcgggaagaaggtg	9	7	17	8	2	1	2	0	0	1	2	2	3	1	3	2	5	2	2	2	5	4	2			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:139587001T>A	ENST00000370536.2	-	1	224	c.225A>T	c.(223-225)gcA>gcT	p.A75A		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	75					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGCTGTACATTGCCGGGGCGG	0.706																																																	0													8	8	8					X																	139587001		2135	4139	6274	SO:0001819	synonymous_variant	0				CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"SRY (sex determining region Y)-boxes"	11199	protein-coding gene	gene with protein product		313430	"panhypopituitarism"	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.225A>T	X.37:g.139587001T>A			P35714|Q5JWI3|Q9NP49	Silent	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A75	ENST00000370536.2	37	c.225	CCDS14669.1	X																																																																																			SOX3	-	NULL	ENSG00000134595		0.706	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX3	HGNC	protein_coding	OTTHUMT00000058577.1	-	0	25	0	T			139587001	-1	tier1	-	no_errors	ENST00000370536	ensembl	human	known	74_37	silent	70.00	9	21	SNP	1.000	A	A	139587001	T	A	139587001	2	1	10	1	0	0	0	0	0	0	0	1	14996	1799	63	5		5	SOX3	23	139587001	Silent	SNP	T	TCGA-2H-A9GO-01A-11D-A37C-09	3995673	139587001	15683559	246	2867											
FATE1	89885	genome.wustl.edu	37	chrX	150885855	150885855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttggaatatgactgccaCccgacccaagaaaatggtac	14	8	9	10	1	0	2	0	1	0	1	0	4	0	3	3	2	2	2	3	2	6	3			TCGA-2H-A9GO-01A-11D-A37C-09	TCGA-2H-A9GO-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7e114d53-ee14-4bbe-a0f6-2ede2813fadf	871ea69a-5531-48fd-9f16-1918dd96a9e5	g.chrX:150885855C>A	ENST00000370350.3	+	2	303	c.218C>A	c.(217-219)aCc>aAc	p.T73N		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	73						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACTGCCACCCGACCCAAG	0.557																																																	0													108	104	105					X																	150885855		2203	4300	6503	SO:0001583	missense	0			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.218C>A	X.37:g.150885855C>A	ENSP00000359375:p.Thr73Asn			Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.T73N	ENST00000370350.3	37	c.218	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917340	0.17982	.	.	ENSG00000147378	ENST00000370350;ENST00000417321	T;T	0.44881	0.95;0.91	3.59	-0.58	0.11717	.	1.118960	0.06944	N	0.813381	T	0.21022	0.0506	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.22243	-1.0222	10	0.36615	T	0.2	.	6.2873	0.21041	0.5266:0.3033:0.1701:0.0	.	73	Q969F0	FATE1_HUMAN	N	73;65	ENSP00000359375:T73N;ENSP00000400493:T65N	ENSP00000359375:T73N	T	+	2	0	FATE1	150636511	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.280000	0.08468	-0.257000	0.09459	0.529000	0.55759	ACC	FATE1	-	pfam_FATE/Miff/Tango-11	ENSG00000147378		0.557	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	-	0	45	0	C	NM_033085		150885855	1	tier1	-	no_errors	ENST00000370350	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	A	A	150885855	C	A	150885855	3	1	10	1	0	0	0	0	1	0	0	0	5715	507	18	3	224	3	FATE1	23	150885855	Missense_Mutation	SNP	C	TCGA-2H-A9GO-01A-11D-A37C-09	11298854	150885855	4384705	247	2868											
PIK3CD	5293	genome.wustl.edu	37	chr1	9777670	9777670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcagcaaagtgaacgccGacgagcggatgaaggtgggg	12	3	19	7	4	0	2	0	2	0	0	0	5	0	3	1	5	3	2	1	5	3	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:9777670G>T	ENST00000377346.4	+	8	1201	c.1006G>T	c.(1006-1008)Gac>Tac	p.D336Y	PIK3CD_ENST00000536656.1_Missense_Mutation_p.D301Y|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Missense_Mutation_p.D301Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	336	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	AGTGAACGCCGACGAGCGGAT	0.607																																																	0													59	67	64					1																	9777670		2203	4300	6503	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1006G>T	1.37:g.9777670G>T	ENSP00000366563:p.Asp336Tyr		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D301Y	ENST00000377346.4	37	c.901	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.651548	0.96714	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.70516	-0.49;-0.49;-0.49	5.66	5.66	0.87406	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.102621	0.64402	D	0.000005	T	0.78541	0.4299	L	0.49350	1.555	0.80722	D	1	B;D;B	0.65815	0.084;0.995;0.279	B;P;B	0.58266	0.088;0.836;0.204	T	0.78797	-0.2063	10	0.54805	T	0.06	-28.3633	17.9286	0.88991	0.0:0.0:1.0:0.0	.	336;301;336	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	Y	301;336;301;301	ENSP00000446444:D301Y;ENSP00000366563:D336Y;ENSP00000354410:D301Y	ENSP00000353766:D301Y	D	+	1	0	PIK3CD	9700257	1.000000	0.71417	0.173000	0.22940	0.980000	0.70556	9.411000	0.97342	2.668000	0.90789	0.655000	0.94253	GAC	PIK3CD	-	superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000171608		0.607	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0	74	0	G	NM_005026		9777670	1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	missense	70.45	26	62	SNP	0.968	T	T	9777670	G	T	9777670	3	4	11	1	0	0	0	0	1	0	0	0	11954	1058	37	2	1028	2	PIK3CD	1	9777670	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		9777670	239472951	1	2869											
PRAMEF6	440561	genome.wustl.edu	37	chr1	13000963	13000963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcgagagacatccatgtgGgagagaacgagcttctgaag	13	7	14	7	2	1	3	0	1	1	2	2	8	2	4	1	1	3	1	1	1	3	2	rs200242081		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:13000963G>A	ENST00000376189.1	-	3	819	c.720C>T	c.(718-720)tcC>tcT	p.S240S	PRAMEF6_ENST00000415464.2_Silent_p.S240S|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	240					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCATGTGGGAGAGAACGA	0.512																																																	0																																										SO:0001819	synonymous_variant	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.720C>T	1.37:g.13000963G>A			A0AUJ9	Silent	SNP	NULL	p.S240	ENST00000376189.1	37	c.720	CCDS30594.1	1																																																																																			PRAMEF6	-	NULL	ENSG00000232423		0.512	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0	11	0	G	NM_001010889		13000963	-1	tier1	rs200242081	no_errors	ENST00000355096	ensembl	human	known	74_37	silent	33.33	14	7	SNP	0.000	A	A	13000963	G	A	13000963	2	1	11	1	0	0	0	0	0	0	0	1	12480	1219	43	3		3	PRAMEF6	1	13000963	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	3223293	13000963	236249658	2	2870											
EIF4G3	8672	genome.wustl.edu	37	chr1	21299503	21299504	+	Frame_Shift_Del	DEL	TC	TC	-																															aaaatctcttacagttttttTctctctcttggctggaggcg																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:21299503_21299504delTC	ENST00000264211.8	-	5	608_609	c.414_415delGA	c.(412-417)gagaaafs	p.K140fs	EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.K140fs|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Frame_Shift_Del_p.K140fs|EIF4G3_ENST00000356916.3_Frame_Shift_Del_p.K151fs|EIF4G3_ENST00000602326.1_Frame_Shift_Del_p.K147fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.K140fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.K147fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	140	PABPC1-binding.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACAGTTTTTTTCTCTCTCTTGG	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.414_415delGA	1.37:g.21299509_21299510delTC	ENSP00000264211:p.Lys140fs		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Del	DEL	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.K147fs	ENST00000264211.8	37	c.436_435	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.371	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0	108	0	TC	NM_003760		21299504	-1	tier1		no_errors	ENST00000374937	ensembl	human	known	74_37	frame_shift_del	34.44	59	31	DEL	1.000:1.000	-	-	21299504	TC	-	21299503	7	5	11	1	0	1	0	1	0	0	0	0	5054	1792	62	0	4450	0	EIF4G3	1	21299503	Frame_Shift_Del	DEL	TC	TCGA-2H-A9GQ-01A-11D-A37C-09	8298540	21299503	227951118	3	2871	8	2									
EIF4G3	8672	genome.wustl.edu	37	chr1	21299504	21299504	+	Silent	SNP	C	C	T																															aaatctcttacagtttttttCtctctcttggctggaggcgg																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:21299504C>T	ENST00000264211.8	-	5	608	c.414G>A	c.(412-414)gaG>gaA	p.E138E	EIF4G3_ENST00000374935.3_Silent_p.E138E|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Silent_p.E138E|EIF4G3_ENST00000356916.3_Silent_p.E149E|EIF4G3_ENST00000602326.1_Silent_p.E145E|EIF4G3_ENST00000400422.1_Silent_p.E138E|EIF4G3_ENST00000374937.3_Silent_p.E145E	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	138	PABPC1-binding.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGTTTTTTTCTCTCTCTTGG	0.368																																																	0													35	38	37					1																	21299504		2199	4300	6499	SO:0001819	synonymous_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.414G>A	1.37:g.21299504C>T			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E145	ENST00000264211.8	37	c.435	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.368	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0	107	0	C	NM_003760		21299504	-1			no_errors	ENST00000374937	ensembl	human	known	74_37	silent	8.20	56	5	SNP	1.000	T	T	21299504	C	T	21299504	2	4	11	1	0	0	0	0	0	0	0	1	5054	912	32	3		3	EIF4G3	1	21299504	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	1	21299504	227951117	4	2872	8	2									
IPP	3652	genome.wustl.edu	37	chr1	46165855	46165855	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgaggcaacttcaaccCacttttcctggttaagagag	11	12	8	10	0	2	2	2	1	0	1	3	3	3	2	2	2	2	2	2	2	3	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:46165855C>T	ENST00000396478.3	-	9	1640	c.1538G>A	c.(1537-1539)tGg>tAg	p.W513*	IPP_ENST00000495072.1_5'UTR	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	513						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AACTTCAACCCACTTTTCCTG	0.393																																																	0													91	93	93					1																	46165855		2203	4300	6503	SO:0001587	stop_gained	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1538G>A	1.37:g.46165855C>T	ENSP00000379739:p.Trp513*		A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W513*	ENST00000396478.3	37	c.1538	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.388899	0.97529	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	.	.	.	X	513	.	ENSP00000353024:W513X	W	-	2	0	IPP	45938442	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.212000	0.77941	2.728000	0.93425	0.591000	0.81541	TGG	IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.393	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	-	0	29	0	C	NM_005897		46165855	-1	tier1	-	no_errors	ENST00000396478	ensembl	human	known	74_37	nonsense	58.06	13	18	SNP	1.000	T	T	46165855	C	T	46165855	4	4	11	1	0	0	0	0	0	1	0	0	7827	595	21	3	322	3	IPP	1	46165855	Nonsense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	24866351	46165855	203084766	5	2873											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52747421	52747421	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcttctacagtgtttaccGgatgaaaagtgtttgccaaa	12	14	8	7	1	2	1	0	1	2	0	2	2	2	2	2	1	3	2	2	1	5	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:52747421G>T	ENST00000371591.1	+	9	3089	c.2958G>T	c.(2956-2958)ccG>ccT	p.P986P	ZFYVE9_ENST00000287727.3_Silent_p.P986P|ZFYVE9_ENST00000357206.2_Silent_p.P927P	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	986					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGTGTTTACCGGATGAAAAGT	0.438																																																	0													201	174	183					1																	52747421		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2958G>T	1.37:g.52747421G>T			Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.P986	ENST00000371591.1	37	c.2958	CCDS563.1	1																																																																																			ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.438	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	-	0	54	0	G	NM_007324		52747421	1	tier1	-	no_errors	ENST00000287727	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.158	T	T	52747421	G	T	52747421	2	4	11	1	0	0	0	0	0	0	0	1	17719	1103	39	2		2	ZFYVE9	1	52747421	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	6581566	52747421	196503200	6	2874											
CYP2J2	1573	genome.wustl.edu	37	chr1	60377901	60377901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcgttcctctaagctcttCtttcctaaaccaaagttcct	9	15	4	13	1	3	0	0	0	3	0	6	0	6	0	4	0	3	3	4	0	4	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:60377901C>G	ENST00000371204.3	-	3	499	c.456G>C	c.(454-456)aaG>aaC	p.K152N	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	152					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTAAGCTCTTCTTTCCTAAAC	0.463																																																	0													198	157	171					1																	60377901		2203	4300	6503	SO:0001583	missense	0			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"Cytochrome P450s"	2634	protein-coding gene	gene with protein product		601258	"cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.456G>C	1.37:g.60377901C>G	ENSP00000360247:p.Lys152Asn		B2RD33|Q8TF13	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.K152N	ENST00000371204.3	37	c.456	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803835	0.70682	.	.	ENSG00000134716	ENST00000371204	T	0.72167	-0.63	5.81	4.9	0.64082	.	0.247960	0.46758	D	0.000276	D	0.82527	0.5056	M	0.85630	2.765	0.47065	D	0.999302	P	0.40000	0.698	P	0.55508	0.777	D	0.84366	0.0541	10	0.87932	D	0	.	10.6587	0.45690	0.0:0.8466:0.0:0.1534	.	152	P51589	CP2J2_HUMAN	N	152	ENSP00000360247:K152N	ENSP00000360247:K152N	K	-	3	2	CYP2J2	60150489	0.998000	0.40836	0.999000	0.59377	0.945000	0.59286	0.664000	0.25068	1.485000	0.48380	0.650000	0.86243	AAG	CYP2J2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000134716		0.463	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	-	0	86	0	C	NM_000775		60377901	-1	tier1	-	no_errors	ENST00000371204	ensembl	human	known	74_37	missense	21.43	66	18	SNP	1.000	G	G	60377901	C	G	60377901	3	3	11	1	0	0	0	0	1	0	0	0	4181	912	32	5	1080	5	CYP2J2	1	60377901	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	7630480	60377901	188872720	7	2875											
ROR1	4919	genome.wustl.edu	37	chr1	64515405	64515405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgaataacatcaccaCgtctctgggccagacagcag	14	6	8	13	1	2	2	1	1	1	1	3	2	2	2	3	1	2	1	3	1	3	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:64515405C>A	ENST00000371079.1	+	3	581	c.206C>A	c.(205-207)aCg>aAg	p.T69K	ROR1_ENST00000371080.1_Missense_Mutation_p.T69K|ROR1_ENST00000482426.1_3'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	69	Ig-like C2-type.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.T69M(2)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACATCACCACGTCTCTGGGC	0.547																																																	2	Substitution - Missense(2)	ovary(1)|breast(1)											139	134	136					1																	64515405		2203	4300	6503	SO:0001583	missense	0			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"Immunoglobulin superfamily / I-set domain containing"	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.206C>A	1.37:g.64515405C>A	ENSP00000360120:p.Thr69Lys		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T69K	ENST00000371079.1	37	c.206	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862702	0.32884	.	.	ENSG00000185483	ENST00000371080;ENST00000371079;ENST00000544776	T;T	0.67698	-0.28;-0.28	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.44285	D	0.000470	T	0.55178	0.1904	N	0.03881	-0.34	0.80722	D	1	B;D	0.64830	0.269;0.994	B;D	0.68353	0.155;0.957	T	0.62845	-0.6768	10	0.25751	T	0.34	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	69;69	Q01973;Q66K77	ROR1_HUMAN;.	K	69;69;72	ENSP00000360121:T69K;ENSP00000360120:T69K	ENSP00000360120:T69K	T	+	2	0	ROR1	64287993	0.998000	0.40836	0.972000	0.41901	0.961000	0.63080	3.803000	0.55560	2.730000	0.93505	0.563000	0.77884	ACG	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000185483		0.547	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1		0	59	0	C	NM_005012		64515405	1			no_errors	ENST00000371079	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	64515405	C	A	64515405	3	1	11	1	0	0	0	0	1	0	0	0	13571	536	19	2	216	2	ROR1	1	64515405	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	4137504	64515405	184735216	8	2876											
USP33	23032	genome.wustl.edu	37	chr1	78200089	78200089	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatttccaatatttttcAaacctgtaagacctattaag	15	15	4	7	0	1	1	1	0	0	1	2	1	2	1	3	0	1	2	3	0	8	8			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:78200089A>C	ENST00000370793.1	-	8	906	c.560T>G	c.(559-561)tTg>tGg	p.L187W	USP33_ENST00000370792.3_Missense_Mutation_p.L187W|USP33_ENST00000370794.3_Missense_Mutation_p.L156W|USP33_ENST00000357428.1_Missense_Mutation_p.L187W	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	187	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AATATTTTTCAAACCTGTAAG	0.264																																					Melanoma(152;72 1870 11110 26780 42647)												0													29	29	29					1																	78200089		2200	4287	6487	SO:0001583	missense	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.560T>G	1.37:g.78200089A>C	ENSP00000359829:p.Leu187Trp		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L187W	ENST00000370793.1	37	c.560	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274888	0.80580	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792;ENST00000524536	T;T;T;T;T	0.62941	2.59;-0.01;-0.01;2.59;-0.01	4.55	4.55	0.56014	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000001	T	0.81706	0.4879	H	0.95780	3.72	0.58432	D	0.999999	D;D	0.89917	0.987;1.0	P;D	0.81914	0.797;0.995	D	0.87596	0.2494	10	0.87932	D	0	.	14.1945	0.65662	1.0:0.0:0.0:0.0	.	187;187	Q8TEY7-3;Q8TEY7	.;UBP33_HUMAN	W	156;187;187;187;187	ENSP00000359830:L156W;ENSP00000359829:L187W;ENSP00000350009:L187W;ENSP00000359828:L187W;ENSP00000434441:L187W	ENSP00000350009:L187W	L	-	2	0	USP33	77972677	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	8.712000	0.91403	1.833000	0.53350	0.477000	0.44152	TTG	USP33	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000077254		0.264	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	-	0	110	0	A	NM_015017		78200089	-1	tier1	-	no_errors	ENST00000357428	ensembl	human	known	74_37	missense	59.18	40	58	SNP	1.000	C	C	78200089	A	C	78200089	3	2	11	1	0	0	0	0	1	0	0	0	17113	131	5	4	2352	4	USP33	1	78200089	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	13684684	78200089	171050532	9	2877											
GPSM2	29899	genome.wustl.edu	37	chr1	109444432	109444432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagacactactgttggcccGacagcttaaagaccgagctg	12	7	11	11	2	0	2	0	0	0	2	0	5	0	2	2	1	3	3	2	1	4	3	rs77121685		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:109444432G>A	ENST00000406462.2	+	9	1591	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	GPSM2_ENST00000264126.3_Missense_Mutation_p.R273Q|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	273					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTGTTGGCCCGACAGCTTAAA	0.348													G|||	1	0.000199681	0	0	5008	,	,		17727	0.001		0	False		,,,				2504	0																0													84	81	82					1																	109444432		2203	4300	6503	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.818G>A	1.37:g.109444432G>A	ENSP00000385510:p.Arg273Gln		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R273Q	ENST00000406462.2	37	c.818	CCDS792.2	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.7	4.318839	0.81469	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	D;D	0.94723	-3.5;-3.5	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	L	0.39514	1.22	0.54753	D	0.99998	P	0.48911	0.917	B	0.35688	0.208	D	0.88036	0.2778	10	0.33940	T	0.23	-6.723	20.2723	0.98479	0.0:0.0:1.0:0.0	.	273	P81274	GPSM2_HUMAN	Q	273	ENSP00000385510:R273Q;ENSP00000264126:R273Q	ENSP00000264126:R273Q	R	+	2	0	GPSM2	109245955	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	CGA	GPSM2	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000121957		0.348	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3		0	36	0	G	NM_013296		109444432	1			no_errors	ENST00000264126	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	109444432	G	A	109444432	3	1	11	1	0	0	0	0	1	0	0	0	6762	1058	37	1	844	1	GPSM2	1	109444432	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	31244343	109444432	139806189	10	2878											
ZNF697	90874	genome.wustl.edu	37	chr1	120165820	120165820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgccgcactcgccacaGccgtgcggcttctcgcccgt	3	8	11	19	7	1	0	0	0	1	0	3	0	1	0	4	1	3	3	4	1	0	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:120165820G>A	ENST00000421812.2	-	3	1265	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		ACTCGCCACAGCCGTGCGGCT	0.701																																																	0													11	11	11					1																	120165820		2191	4279	6470	SO:0001819	synonymous_variant	0			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1146C>T	1.37:g.120165820G>A			Q96IT2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G382	ENST00000421812.2	37	c.1146	CCDS44202.1	1																																																																																			ZNF697	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143067		0.701	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	-	0	31	0	G	XM_371286		120165820	-1	tier1	-	no_errors	ENST00000421812	ensembl	human	known	74_37	silent	81.40	8	35	SNP	0.996	A	A	120165820	G	A	120165820	2	1	11	1	0	0	0	0	0	0	0	1	18148	958	34	3		3	ZNF697	1	120165820	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	10721388	120165820	129084801	11	2879											
FLG	2312	genome.wustl.edu	37	chr1	152285666	152285666	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtgtttgtctgcttgcacTtctggatcctgactgcccat	4	16	9	12	1	2	1	0	1	2	0	4	2	3	2	2	1	3	3	2	1	0	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:152285666T>G	ENST00000368799.1	-	3	1731	c.1696A>C	c.(1696-1698)Agt>Cgt	p.S566R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	566	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.542									Ichthyosis																																								0													429	406	414					1																	152285666		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1696A>C	1.37:g.152285666T>G	ENSP00000357789:p.Ser566Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S566R	ENST00000368799.1	37	c.1696	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	9.042	0.990010	0.18966	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01821	4.62	1.63	0.416	0.16416	.	.	.	.	.	T	0.02494	0.0076	M	0.75447	2.3	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.41698	-0.9494	9	0.39692	T	0.17	.	3.5653	0.07897	0.0:0.2226:0.0:0.7774	.	566	P20930	FILA_HUMAN	R	566;98	ENSP00000357789:S566R	ENSP00000357789:S566R	S	-	1	0	FLG	150552290	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.977000	0.03782	0.102000	0.17638	0.491000	0.48974	AGT	FLG	-	NULL	ENSG00000143631		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	186	0	T	NM_002016		152285666	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	25.21	175	59	SNP	0.000	G	G	152285666	T	G	152285666	3	3	11	1	0	0	0	0	1	0	0	0	5944	1609	56	4	10493	4	FLG	1	152285666	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	32119846	152285666	96964955	12	2880											
TRIM46	80128	genome.wustl.edu	37	chr1	155156434	155156434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggccccacagccggctGcacagtgcccctgccacccc	6	4	11	20	1	0	0	0	0	0	0	0	1	0	1	8	3	4	2	8	3	0	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:155156434G>A	ENST00000334634.4	+	10	2048	c.2048G>A	c.(2047-2049)tGc>tAc	p.C683Y	MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000392451.2_3'UTR|TRIM46_ENST00000368382.1_Missense_Mutation_p.C660Y|TRIM46_ENST00000545012.1_Missense_Mutation_p.C557Y|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	683	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACAGCCGGCTGCACAGTGCCC	0.647																																																	0													69	69	69					1																	155156434		2203	4300	6503	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.2048G>A	1.37:g.155156434G>A	ENSP00000334657:p.Cys683Tyr		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.C683Y	ENST00000334634.4	37	c.2048	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.464650	0.01053	.	.	ENSG00000163462	ENST00000430513;ENST00000545012;ENST00000368382;ENST00000334634	T;T;T	0.59906	0.23;0.23;0.23	4.19	4.19	0.49359	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.356526	0.27092	N	0.020971	T	0.15089	0.0364	N	0.08118	0	0.35587	D	0.806761	B	0.20780	0.048	B	0.24541	0.054	T	0.07654	-1.0761	10	0.02654	T	1	.	12.404	0.55428	0.0:0.0:1.0:0.0	.	683	Q7Z4K8	TRI46_HUMAN	Y	641;557;660;683	ENSP00000440254:C557Y;ENSP00000357366:C660Y;ENSP00000334657:C683Y	ENSP00000334657:C683Y	C	+	2	0	TRIM46	153423058	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.383000	0.59600	2.065000	0.61736	0.313000	0.20887	TGC	TRIM46	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000163462		0.647	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	-	0	66	0	G	NM_025058		155156434	1	tier1	-	no_errors	ENST00000334634	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A	A	155156434	G	A	155156434	3	1	11	1	0	0	0	0	1	0	0	0	16569	1319	46	3	2086	3	TRIM46	1	155156434	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2870768	155156434	94094187	13	2881											
OR6K3	391114	genome.wustl.edu	37	chr1	158687308	158687308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcacagcatgaatcaCatcctcaatcagaatcatgg	14	9	8	10	0	5	2	5	1	0	1	6	3	6	2	1	2	1	1	1	2	3	0	rs151330882	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:158687308C>T	ENST00000368146.1	-	1	645	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	OR6K3_ENST00000368145.1_Missense_Mutation_p.V200M			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	216			V -> M (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V216M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCATGAATCACATCCTCAATC	0.468													C|||	29	0.00579073	0.0219	0	5008	,	,		23166	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	kidney(1)						C	MET/VAL	75,4331	66.4+/-103.9	0,75,2128	158	150	153		598	3.9	0.8	1	dbSNP_134	153	1,8599	1.2+/-3.3	0,1,4299	yes	missense	OR6K3	NM_001005327.2	21	0,76,6427	TT,TC,CC		0.0116,1.7022,0.5843	probably-damaging	200/316	158687308	76,12930	2203	4300	6503	SO:0001583	missense	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.646G>A	1.37:g.158687308C>T	ENSP00000357128:p.Val216Met		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V216M	ENST00000368146.1	37	c.646		1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	17.66	3.443409	0.63067	0.017022	1.16E-4	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00220	8.52;8.52	3.92	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.13352	0.335	0.09310	N	1	D	0.60575	0.988	D	0.71414	0.973	T	0.54029	-0.8354	9	0.33940	T	0.23	.	9.1036	0.36685	0.0:0.8951:0.0:0.1049	.	216	Q8NGY3	OR6K3_HUMAN	M	200;216	ENSP00000357127:V200M;ENSP00000357128:V216M	ENSP00000357127:V200M	V	-	1	0	OR6K3	156953932	0.000000	0.05858	0.818000	0.32626	0.728000	0.41692	0.087000	0.14958	2.157000	0.67596	0.467000	0.42956	GTG	OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203757		0.468	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding			0	32	0	C			158687308	-1			no_errors	ENST00000368146	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.001	T	T	158687308	C	T	158687308	3	4	11	1	0	0	0	0	1	0	0	0	11242	478	17	3	351	3	OR6K3	1	158687308	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	3530874	158687308	90563313	14	2882											
BAT2L2	23215	genome.wustl.edu	37	chr1	171482243	171482243	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaacaaaggcaatgatccTaatgtaaacattgtacctaa	19	9	6	7	0	0	1	0	1	0	0	1	2	1	1	2	1	3	3	2	1	9	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:171482243T>C	ENST00000338920.4	+	3	453	c.216T>C	c.(214-216)ccT>ccC	p.P72P	PRRC2C_ENST00000426496.2_Silent_p.P72P|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Silent_p.P74P|PRRC2C_ENST00000392078.3_Silent_p.P74P	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	72					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GCAATGATCCTAATGTAAACA	0.423																																																	0													96	86	89					1																	171482243		2203	4300	6503	SO:0001819	synonymous_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.216T>C	1.37:g.171482243T>C			Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	pfam_BAT2_N	p.P74	ENST00000338920.4	37	c.222	CCDS1296.2	1																																																																																			PRRC2C	-	pfam_BAT2_N	ENSG00000117523		0.423	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0	51	0	T	NM_015172		171482243	1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	silent	24.59	46	15	SNP	1.000	C	C	171482243	T	C	171482243	2	2	11	1	0	0	0	0	0	0	0	1	1322	1509	53	4		4	BAT2L2	1	171482243	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	12794935	171482243	77768378	15	2883											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T																															atgggggaattccaaggcagINSttttttttttccatgaaaat																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				PPP1R12B_ENST00000356764.2_3'UTR|RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0																																										SO:0001627	intron_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3		0	35	0	-	NM_032105		202407190	1	tier1		no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	7.32	38	3	INS	0.085:0.041	T	T	202407190	-	T	202407189	6	5	11	0	1	1	1	0	0	0	0	0	12397	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-2H-A9GQ-01A-11D-A37C-09	30924946	202407189	46843432	16	2884											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204433694	204433694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactccagacatagccaGtgaggaagtagtcttggatg	12	8	12	9	0	1	2	0	1	1	1	2	4	2	4	2	2	2	2	2	2	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:204433694G>T	ENST00000367187.3	-	5	1629	c.1073C>A	c.(1072-1074)aCt>aAt	p.T358N	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.T358N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	358					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GACATAGCCAGTGAGGAAGTA	0.507																																																	0													116	113	114					1																	204433694		2203	4300	6503	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1073C>A	1.37:g.204433694G>T	ENSP00000356155:p.Thr358Asn		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.T358N	ENST00000367187.3	37	c.1073	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	G	5.936	0.356693	0.11239	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000438854;ENST00000367184	T;T	0.61040	0.14;0.21	5.24	5.24	0.73138	.	0.522566	0.19634	N	0.109620	T	0.61515	0.2353	N	0.16790	0.44	0.38931	D	0.957949	P;D	0.71674	0.793;0.998	B;D	0.76071	0.377;0.987	T	0.59847	-0.7377	10	0.26408	T	0.33	.	16.7749	0.85548	0.0:0.0:1.0:0.0	.	358;358	F5GWN5;O00750	.;P3C2B_HUMAN	N	358;358;136;136	ENSP00000356155:T358N;ENSP00000400561:T358N	ENSP00000356152:T136N	T	-	2	0	PIK3C2B	202700317	1.000000	0.71417	0.907000	0.35723	0.032000	0.12392	5.467000	0.66737	2.723000	0.93209	0.655000	0.94253	ACT	PIK3C2B	-	NULL	ENSG00000133056		0.507	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0	50	0	G	NM_002646		204433694	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.990	T	T	204433694	G	T	204433694	3	4	11	1	0	0	0	0	1	0	0	0	11949	1029	36	3	3951	3	PIK3C2B	1	204433694	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2026505	204433694	44816927	17	2885											
NFASC	23114	genome.wustl.edu	37	chr1	204971813	204971813	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggatgacatacacgttgCgggtttattcccgggacaac	9	9	12	11	4	0	1	0	1	0	0	1	3	1	3	2	3	3	2	2	3	3	5	rs370375266		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:204971813C>G	ENST00000401399.1	+	26	3425	c.3226C>G	c.(3226-3228)Cgg>Ggg	p.R1076G	NFASC_ENST00000338586.6_Missense_Mutation_p.R1060G|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000339876.6_Missense_Mutation_p.R1076G|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367171.4_Missense_Mutation_p.R1168G|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367172.4_Missense_Mutation_p.R1183G|NFASC_ENST00000367170.4_Missense_Mutation_p.R1104G			O94856	NFASC_HUMAN	neurofascin	1183	Thr-rich.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATACACGTTGCGGGTTTATTC	0.552																																																	0													79	74	75					1																	204971813		1568	3582	5150	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3226C>G	1.37:g.204971813C>G	ENSP00000385637:p.Arg1076Gly		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1183G	ENST00000401399.1	37	c.3547	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.69|14.69	2.609461|2.609461	0.46527|0.46527	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000413225|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000339876;ENST00000338586;ENST00000401399	.|T;T;T;T;T;T	.|0.60797	.|0.16;0.16;0.16;0.16;1.28;0.16	5.63|5.63	4.71|4.71	0.59529|0.59529	.|.	.|0.137390	.|0.32244	.|N	.|0.006371	T|T	0.70281|0.70281	0.3206|0.3206	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	.|B;D	.|0.53619	.|0.001;0.961	.|B;P	.|0.56343	.|0.004;0.796	T|T	0.73626|0.73626	-0.3923|-0.3923	5|10	.|0.62326	.|D	.|0.03	.|.	10.1993|10.1993	0.43073|0.43073	0.1381:0.7903:0.0:0.0716|0.1381:0.7903:0.0:0.0716	.|.	.|1060;1076	.|F8W8X7;O94856-9	.|.;.	G|G	122|1183;1168;1104;1076;1060;1076	.|ENSP00000356140:R1183G;ENSP00000356139:R1168G;ENSP00000356138:R1104G;ENSP00000344786:R1076G;ENSP00000343509:R1060G;ENSP00000385637:R1076G	.|ENSP00000343509:R1060G	A|R	+|+	2|1	0|2	NFASC|NFASC	203238436|203238436	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	2.815000|2.815000	0.48018|0.48018	1.356000|1.356000	0.45884|0.45884	0.655000|0.655000	0.94253|0.94253	GCG|CGG	NFASC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163531		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0	38	0	C	NM_001005388		204971813	1	tier1	-	no_errors	ENST00000367172	ensembl	human	known	74_37	missense	32.35	46	22	SNP	1.000	G	G	204971813	C	G	204971813	3	3	11	1	0	0	0	0	1	0	0	0	10398	759	27	5	3737	5	NFASC	1	204971813	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	538119	204971813	44278808	18	2886											
KIAA1383	54627	genome.wustl.edu	37	chr1	232942210	232942211	+	Frame_Shift_Ins	INS	-	-	A																															aatggatgatgcttctcctgINSaaaaaaagcgtgtaaatccc																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:232942210_232942211insA	ENST00000418460.1	+	1	1568_1569	c.1441_1442insA	c.(1441-1443)gaafs	p.E481fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	339					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TGCTTCTCCTGAAAAAAAGCGT	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"microtubule regulator 120 KDa"		"KIAA1383"	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.1448dupA	1.37:g.232942217_232942217dupA	ENSP00000403208:p.Glu481fs		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Ins	INS	NULL	p.R484fs	ENST00000418460.1	37	c.1441_1442	CCDS44334.1	1																																																																																			MAP10	-	NULL	ENSG00000212916		0.45	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP10	HGNC	protein_coding	OTTHUMT00000092317.3		0	44	0	-	NM_019090		232942211	1	tier1		no_errors	ENST00000418460	ensembl	human	known	74_37	frame_shift_ins	6.67	28	2	INS	0.013:0.010	A	A	232942211	-	A	232942210	7	5	11	1	0	1	1	0	0	0	0	0	8255	1291	45	0	1443	0	KIAA1383	1	232942210	Frame_Shift_Ins	INS	-	TCGA-2H-A9GQ-01A-11D-A37C-09	27970397	232942210	16308411	19	2887											
FMN2	56776	genome.wustl.edu	37	chr1	240255585	240255585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggggcggcggcggcggcgGggagtcgggcaagaagaaga	9	1	24	7	6	0	3	0	0	0	3	1	4	0	4	0	9	0	1	0	9	3	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:240255585G>A	ENST00000319653.9	+	1	406	c.176G>A	c.(175-177)gGg>gAg	p.G59E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ggcggcggcggggAGTCGGGC	0.672																																																	0													5	7	6					1																	240255585		2121	4157	6278	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.176G>A	1.37:g.240255585G>A	ENSP00000318884:p.Gly59Glu		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G59E	ENST00000319653.9	37	c.176	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	4.094	0.015394	0.07959	.	.	ENSG00000155816	ENST00000319653	T	0.36878	1.23	.	.	.	.	0.396632	0.21710	N	0.070288	T	0.32071	0.0817	L	0.53249	1.67	0.80722	D	1	.	.	.	.	.	.	T	0.10567	-1.0624	6	0.07482	T	0.82	.	.	.	.	.	59	Q9NZ56	FMN2_HUMAN	E	59	ENSP00000318884:G59E	ENSP00000318884:G59E	G	+	2	0	FMN2	238322208	0.902000	0.30710	0.981000	0.43875	0.932000	0.56968	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GGG	FMN2	-	NULL	ENSG00000155816		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	34	0	G	XM_371352		240255585	1			no_errors	ENST00000319653	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.941	A	A	240255585	G	A	240255585	3	1	11	1	0	0	0	0	1	0	0	0	5972	1232	43	3	178	3	FMN2	1	240255585	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	7313375	240255585	8995036	20	2888											
AHCTF1	25909	genome.wustl.edu	37	chr1	247040319	247040319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggcacgctgcaaatggTgcactaaaaggaattcatga	15	9	10	7	1	1	1	1	1	0	0	1	2	1	2	0	3	2	4	0	3	5	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr1:247040319T>C	ENST00000391829.2	-	23	2993	c.2870A>G	c.(2869-2871)cAc>cGc	p.H957R	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.H966R|AHCTF1_ENST00000366508.1_Missense_Mutation_p.H992R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	957	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGCAAATGGTGCACTAAAAG	0.363																																					Colon(145;197 1800 4745 15099 26333)												0													86	80	82					1																	247040319		2203	4300	6503	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2870A>G	1.37:g.247040319T>C	ENSP00000375705:p.His957Arg		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.H966R	ENST00000391829.2	37	c.2897		1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479607	0.84747	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.40756	1.02;1.02;1.02	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.63875	-0.6538	10	0.54805	T	0.06	-12.4917	15.9613	0.79933	0.0:0.0:0.0:1.0	.	992;957	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	R	992;966;957	ENSP00000355464:H992R;ENSP00000355465:H966R;ENSP00000375705:H957R	ENSP00000355465:H966R	H	-	2	0	AHCTF1	245106942	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.480000	0.66820	2.240000	0.73641	0.477000	0.44152	CAC	AHCTF1	-	NULL	ENSG00000153207		0.363	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	47	0	T	NM_015446		247040319	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	36.23	43	25	SNP	1.000	C	C	247040319	T	C	247040319	3	2	11	1	0	0	0	0	1	0	0	0	408	1696	59	4	3986	4	AHCTF1	1	247040319	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	6784734	247040319	2210302	21	2889											
BIRC6	57448	genome.wustl.edu	37	chr2	32640482	32640482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattctgagaagtggaactCtgtgtttcccaagcctggga	9	11	13	8	0	2	1	0	1	2	1	3	5	3	4	2	3	2	1	2	3	3	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:32640482C>T	ENST00000421745.2	+	10	2257	c.2123C>T	c.(2122-2124)tCt>tTt	p.S708F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	708					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAGTGGAACTCTGTGTTTCCC	0.478																																					Pancreas(94;175 1509 16028 18060 45422)												0													75	71	72					2																	32640482		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.2123C>T	2.37:g.32640482C>T	ENSP00000393596:p.Ser708Phe		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S708F	ENST00000421745.2	37	c.2123	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357841	0.82243	.	.	ENSG00000115760	ENST00000421745	T	0.76709	-1.04	5.65	5.65	0.86999	.	0.059997	0.64402	D	0.000002	T	0.70116	0.3187	N	0.19112	0.55	0.58432	D	0.999999	B	0.28512	0.214	B	0.31016	0.123	T	0.68914	-0.5283	10	0.72032	D	0.01	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	708	Q9NR09	BIRC6_HUMAN	F	708	ENSP00000393596:S708F	ENSP00000393596:S708F	S	+	2	0	BIRC6	32493986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.827000	0.97445	0.650000	0.86243	TCT	BIRC6	-	NULL	ENSG00000115760		0.478	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	40	0	C	NM_016252		32640482	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	T	T	32640482	C	T	32640482	3	4	11	1	0	0	0	0	1	0	0	0	1440	913	32	3	2161	3	BIRC6	2	32640482	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		32640482	210558891	22	2890											
ABCG5	64240	genome.wustl.edu	37	chr2	44055245	44055245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcagctctgccatgaCggcctccacctgcaggagac	9	6	10	16	1	2	3	1	1	1	2	3	4	3	3	4	2	3	2	4	2	0	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:44055245C>T	ENST00000260645.1	-	5	650	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	ABCG5_ENST00000405322.1_Missense_Mutation_p.V90I|ABCG5_ENST00000543989.1_5'UTR	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	171	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCTGCCATGACGGCCTCCACC	0.582																																																	0													54	49	51					2																	44055245		2203	4300	6503	SO:0001583	missense	0			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.511G>A	2.37:g.44055245C>T	ENSP00000260645:p.Val171Ile		Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V171I	ENST00000260645.1	37	c.511	CCDS1814.1	2	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046266	0.36085	.	.	ENSG00000138075	ENST00000260645;ENST00000405322	D;D	0.93811	-3.29;-3.29	5.25	3.44	0.39384	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.245177	0.40302	N	0.001125	D	0.84678	0.5525	N	0.11255	0.115	0.80722	D	1	B;B	0.21309	0.024;0.054	B;B	0.18871	0.009;0.023	T	0.73736	-0.3889	10	0.17369	T	0.5	.	13.917	0.63905	0.0:0.8598:0.0:0.1402	.	90;171	E7EX35;Q9H222	.;ABCG5_HUMAN	I	171;90	ENSP00000260645:V171I;ENSP00000384513:V90I	ENSP00000260645:V171I	V	-	1	0	ABCG5	43908749	0.990000	0.36364	0.304000	0.25085	0.508000	0.34012	2.889000	0.48601	0.230000	0.21059	-0.797000	0.03246	GTC	ABCG5	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000138075		0.582	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1		0	36	0	C	NM_022436		44055245	-1			no_errors	ENST00000260645	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.976	T	T	44055245	C	T	44055245	3	4	11	1	0	0	0	0	1	0	0	0	71	536	19	1	1480	1	ABCG5	2	44055245	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	11414763	44055245	199144128	23	2891											
NRXN1	9378	genome.wustl.edu	37	chr2	51255171	51255171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgccgcgcgtcagaatcaGctccaggaagtcgcagaagc	10	4	13	14	5	2	2	2	0	0	2	4	3	3	3	3	1	2	2	3	1	3	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:51255171G>T	ENST00000406316.2	-	2	1717	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	NRXN1_ENST00000404971.1_Missense_Mutation_p.L81M|NRXN1_ENST00000402717.3_Missense_Mutation_p.L81M|NRXN1_ENST00000406859.3_Missense_Mutation_p.L81M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L81M|NRXN1_ENST00000405581.1_Missense_Mutation_p.L81M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L81M	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	81	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTCAGAATCAGCTCCAGGAAG	0.667																																																	0													14	19	18					2																	51255171		1996	4167	6163	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.241C>A	2.37:g.51255171G>T	ENSP00000384311:p.Leu81Met		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L81M	ENST00000406316.2	37	c.241	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425557	0.62733	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.23038	U	0.052652	D	0.93651	0.7972	M	0.90542	3.125	0.29944	N	0.820823	D;D;B	0.89917	1.0;1.0;0.012	D;D;B	0.91635	0.995;0.999;0.015	D	0.90539	0.4501	10	0.87932	D	0	.	9.123	0.36799	0.1629:0.0:0.8371:0.0	.	81;81;81	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	M	81	ENSP00000385142:L81M;ENSP00000384311:L81M;ENSP00000434015:L81M;ENSP00000385017:L81M;ENSP00000385434:L81M;ENSP00000385681:L81M;ENSP00000385310:L81M	ENSP00000385017:L81M	L	-	1	2	NRXN1	51108675	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.735000	0.62051	2.293000	0.77203	0.563000	0.77884	CTG	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	10	0	G			51255171	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	T	T	51255171	G	T	51255171	3	4	11	1	0	0	0	0	1	0	0	0	10704	962	34	3	4757	3	NRXN1	2	51255171	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	7199926	51255171	191944202	24	2892											
USP34	9736	genome.wustl.edu	37	chr2	61510280	61510280	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaatctttatcttacCtcaggaataaggagagtcaa	14	12	6	9	0	5	1	3	0	2	1	5	3	5	2	2	2	1	0	2	2	6	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:61510280C>G	ENST00000398571.2	-	37	5074	c.4998G>C	c.(4996-4998)gaG>gaC	p.E1666D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1666					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTTATCTTACCTCAGGAATAA	0.343																																																	0													86	83	84					2																	61510280		1866	4094	5960	SO:0001630	splice_region_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4998+1G>C	2.37:g.61510280C>G			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E1666D	ENST00000398571.2	37	c.4998	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384559	0.61845	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04654	3.58	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	L	0.55990	1.75	0.54753	D	0.999983	D	0.54207	0.965	P	0.58172	0.834	T	0.00178	-1.1951	9	.	.	.	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	1666	Q70CQ2	UBP34_HUMAN	D	1514;1514;1666	ENSP00000381577:E1666D	.	E	-	3	2	USP34	61363784	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.052000	0.71080	2.693000	0.91896	0.655000	0.94253	GAG	USP34	-	NULL	ENSG00000115464		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0	43	0	C		Missense_Mutation	61510280	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	56.72	29	38	SNP	1.000	G	G	61510280	C	G	61510280	5	3	11	1	0	0	0	0	0	0	1	0	17114	695	24	5	5818	5	USP34	2	61510280	Splice_Site	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	10255109	61510280	181689093	25	2893											
USP34	9736	genome.wustl.edu	37	chr2	61575959	61575959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctcatccatttcaatgtCactacctccactttgatgtg	8	16	5	12	0	3	1	3	1	0	0	5	1	5	1	3	0	2	1	3	0	2	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:61575959C>T	ENST00000398571.2	-	14	1682	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	536					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTTCAATGTCACTACCTCCA	0.343																																																	0													146	135	138					2																	61575959		1912	4126	6038	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1606G>A	2.37:g.61575959C>T	ENSP00000381577:p.Asp536Asn		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.D536N	ENST00000398571.2	37	c.1606	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.570363	0.96540	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04317	3.65	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.00054	-1.2181	10	0.48119	T	0.1	.	19.8696	0.96845	0.0:1.0:0.0:0.0	.	536	Q70CQ2	UBP34_HUMAN	N	384;384;536	ENSP00000381577:D536N	ENSP00000263989:D384N	D	-	1	0	USP34	61429463	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.197000	0.77814	2.773000	0.95371	0.585000	0.79938	GAC	USP34	-	NULL	ENSG00000115464		0.343	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0	41	0	C			61575959	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	missense	72.73	12	32	SNP	1.000	T	T	61575959	C	T	61575959	3	4	11	1	0	0	0	0	1	0	0	0	17114	826	29	3	9302	3	USP34	2	61575959	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	65679	61575959	181623414	26	2894											
ETAA1	54465	genome.wustl.edu	37	chr2	67631408	67631408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaaggtattctaatgaaCagaaaaataagtgcatttta	19	11	6	5	0	1	2	0	1	1	1	1	2	1	2	0	1	2	2	0	1	8	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:67631408C>G	ENST00000272342.5	+	5	1724	c.1594C>G	c.(1594-1596)Cag>Gag	p.Q532E	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	532						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCTAATGAACAGAAAAATAA	0.338																																																	0													38	40	39					2																	67631408		2202	4296	6498	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1594C>G	2.37:g.67631408C>G	ENSP00000272342:p.Gln532Glu		Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.Q532E	ENST00000272342.5	37	c.1594	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	C	4.121	0.020740	0.08006	.	.	ENSG00000143971	ENST00000272342	T	0.21031	2.03	5.85	4.98	0.66077	.	0.511047	0.20560	N	0.089937	T	0.23886	0.0578	L	0.50333	1.59	0.09310	N	1	P	0.46142	0.873	B	0.42361	0.385	T	0.07654	-1.0761	10	0.35671	T	0.21	-27.2549	14.9288	0.70900	0.0:0.9317:0.0:0.0683	.	532	Q9NY74	ETAA1_HUMAN	E	532	ENSP00000272342:Q532E	ENSP00000272342:Q532E	Q	+	1	0	ETAA1	67484912	0.438000	0.25602	0.696000	0.30242	0.021000	0.10359	1.006000	0.29847	1.492000	0.48499	0.655000	0.94253	CAG	ETAA1	-	NULL	ENSG00000143971		0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	27	0	C	NM_019002		67631408	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.026	G	G	67631408	C	G	67631408	3	3	11	1	0	0	0	0	1	0	0	0	5283	479	17	5	1612	5	ETAA1	2	67631408	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	6055449	67631408	175567965	27	2895											
EIF5B	9669	genome.wustl.edu	37	chr2	99977778	99977778	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgtactctgggagtgaTgatgatgatgattttaacaa	14	13	11	3	0	1	5	0	5	1	0	1	7	1	6	0	1	2	1	0	1	4	3	rs559211004		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:99977778T>C	ENST00000289371.6	+	4	616	c.414T>C	c.(412-414)gaT>gaC	p.D138D		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	138	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGGGAGTGATGATGATGATG	0.348																																					Colon(162;2388 2567 2705 3444)												0													78	80	79					2																	99977778		1826	4080	5906	SO:0001819	synonymous_variant	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.414T>C	2.37:g.99977778T>C			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.D138	ENST00000289371.6	37	c.414	CCDS42721.1	2																																																																																			EIF5B	-	NULL	ENSG00000158417		0.348	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	-	0	14	0	T	NM_015904		99977778	1	tier1	-	no_errors	ENST00000289371	ensembl	human	known	74_37	silent	30.00	21	9	SNP	1.000	C	C	99977778	T	C	99977778	2	2	11	1	0	0	0	0	0	0	0	1	5060	1461	51	4		4	EIF5B	2	99977778	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	32346370	99977778	143221595	28	2896											
YSK4	80122	genome.wustl.edu	37	chr2	135756433	135756433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcacattgcagagctccCtggaactttcctctttttgc	7	15	7	12	0	2	1	1	0	1	1	4	2	4	2	2	1	4	3	2	1	1	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:135756433C>T	ENST00000375845.3	-	5	479	c.449G>A	c.(448-450)aGg>aAg	p.R150K	MAP3K19_ENST00000392918.3_Missense_Mutation_p.R150K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R167K|MAP3K19_ENST00000375844.3_Missense_Mutation_p.R150K|MAP3K19_ENST00000392917.3_Missense_Mutation_p.R150K|MAP3K19_ENST00000358371.4_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	150							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCAGAGCTCCCTGGAACTTTC	0.433																																																	0													80	82	81					2																	135756433		2203	4300	6503	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.449G>A	2.37:g.135756433C>T	ENSP00000365005:p.Arg150Lys		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R150K	ENST00000375845.3	37	c.449	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377333	0.11466	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915	T;T;T;T;T	0.70045	-0.34;-0.38;-0.45;-0.37;2.04	5.19	0.103	0.14526	.	1.281410	0.05519	N	0.561682	T	0.30885	0.0779	N	0.01576	-0.805	0.09310	N	0.999996	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.0	T	0.33420	-0.9869	10	0.02654	T	1	.	3.4923	0.07642	0.1597:0.264:0.0:0.5763	.	150;150;150;167;150;150	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	K	150;150;150;150;167	ENSP00000365005:R150K;ENSP00000365004:R150K;ENSP00000376650:R150K;ENSP00000376649:R150K;ENSP00000376647:R167K	ENSP00000365004:R150K	R	-	2	0	YSK4	135472903	0.000000	0.05858	0.019000	0.16419	0.138000	0.21146	0.381000	0.20619	-0.104000	0.12154	-0.888000	0.02935	AGG	MAP3K19	-	NULL	ENSG00000176601		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1		0	66	0	C	NM_025052		135756433	-1			no_errors	ENST00000375845	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.006	T	T	135756433	C	T	135756433	3	4	11	1	0	0	0	0	1	0	0	0	17544	681	24	3	3561	3	YSK4	2	135756433	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	35778655	135756433	107442940	29	2897											
XIRP2	129446	genome.wustl.edu	37	chr2	168105148	168105148	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaatcataacaggaaaaAccggtgtgttgccacctccc	14	8	7	12	1	1	0	1	0	0	0	2	1	2	1	4	2	3	1	4	2	5	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:168105148A>T	ENST00000409195.1	+	9	7335	c.7246A>T	c.(7246-7248)Acc>Tcc	p.T2416S	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2194S|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2416S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2241					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACAGGAAAAACCGGTGTGTT	0.438																																																	0													71	73	73					2																	168105148		1850	4090	5940	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7246A>T	2.37:g.168105148A>T	ENSP00000386840:p.Thr2416Ser		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.T2416S	ENST00000409195.1	37	c.7246	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	a	0.004	-2.345759	0.00222	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02158	4.42;4.42;4.42	5.67	-0.834	0.10779	.	1.238380	0.05778	N	0.608134	T	0.00637	0.0021	N	0.00308	-1.67	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46830	-0.9163	10	0.02654	T	1	-2.3074	4.3157	0.10991	0.5197:0.1538:0.0:0.3264	.	2241;2241;2194	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	S	2416;2416;2194	ENSP00000386840:T2416S;ENSP00000295237:T2416S;ENSP00000387255:T2194S	ENSP00000295237:T2416S	T	+	1	0	XIRP2	167813394	0.004000	0.15560	0.462000	0.27118	0.043000	0.13939	-0.450000	0.06803	0.071000	0.16664	-0.262000	0.10625	ACC	XIRP2	-	NULL	ENSG00000163092		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	74	0	A	NM_152381		168105148	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	38.37	53	33	SNP	0.021	T	T	168105148	A	T	168105148	3	4	11	1	0	0	0	0	1	0	0	0	17479	43	2	5	7276	5	XIRP2	2	168105148	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	32348715	168105148	75094225	30	2898											
COL3A1	1281	genome.wustl.edu	37	chr2	189870168	189870168	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggctggtacagctggTgaacctggaagagatgtgag	9	9	17	6	0	1	3	0	2	1	1	1	5	1	4	1	5	3	3	1	5	3	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:189870168T>A	ENST00000304636.3	+	41	3194	c.3024T>A	c.(3022-3024)ggT>ggA	p.G1008G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1008	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GTACAGCTGGTGAACCTGGAA	0.468																																																	0													83	84	84					2																	189870168		2203	4300	6503	SO:0001819	synonymous_variant	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3024T>A	2.37:g.189870168T>A			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G1008	ENST00000304636.3	37	c.3024	CCDS2297.1	2																																																																																			COL3A1	-	pfam_Collagen	ENSG00000168542		0.468	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0	87	0	T	NM_000090		189870168	1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	silent	10.48	94	11	SNP	1.000	A	A	189870168	T	A	189870168	2	1	11	1	0	0	0	0	0	0	0	1	3695	1683	59	5		5	COL3A1	2	189870168	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	21765020	189870168	53329205	31	2899											
HIBCH	26275	genome.wustl.edu	37	chr2	191077701	191077701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacaagcttgacttagcCgatactccatagttagtact	12	12	6	11	1	0	1	0	1	0	0	1	2	1	1	3	0	5	3	3	0	7	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:191077701C>T	ENST00000359678.5	-	12	1286	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	HIBCH_ENST00000486981.1_5'UTR|HIBCH_ENST00000410045.1_Missense_Mutation_p.R108Q|HIBCH_ENST00000392332.3_Missense_Mutation_p.R331Q	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	331					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TTGACTTAGCCGATACTCCAT	0.318																																																	0													85	86	86					2																	191077701		2202	4300	6502	SO:0001583	missense	0			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.992G>A	2.37:g.191077701C>T	ENSP00000352706:p.Arg331Gln		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.R331Q	ENST00000359678.5	37	c.992	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824479	0.71143	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000416732;ENST00000409820	T;T;T;T;T	0.76186	-0.67;-0.67;-1.0;-1.0;-1.0	5.0	3.21	0.36854	.	0.167565	0.51477	N	0.000093	D	0.83691	0.5309	M	0.77486	2.375	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82782	-0.0287	10	0.56958	D	0.05	-7.4197	9.1023	0.36676	0.0:0.8223:0.0:0.1777	.	331;331	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	Q	331;331;108;82;111	ENSP00000376144:R331Q;ENSP00000352706:R331Q;ENSP00000386274:R108Q;ENSP00000399263:R82Q;ENSP00000387098:R111Q	ENSP00000352706:R331Q	R	-	2	0	HIBCH	190785946	1.000000	0.71417	0.721000	0.30653	0.985000	0.73830	3.216000	0.51176	0.707000	0.31934	0.557000	0.71058	CGG	HIBCH	-	NULL	ENSG00000198130		0.318	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	-	0	31	0	C			191077701	-1	tier1	-	no_errors	ENST00000359678	ensembl	human	known	74_37	missense	60.00	14	21	SNP	0.889	T	T	191077701	C	T	191077701	3	4	11	1	0	0	0	0	1	0	0	0	7127	652	23	1	180	1	HIBCH	2	191077701	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	1207533	191077701	52121672	32	2900											
BARD1	580	genome.wustl.edu	37	chr2	215646099	215646099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcatctttttttattgcagGctgggtttgcactgaagctt	6	18	10	7	0	1	1	0	1	1	0	1	1	1	1	0	2	4	6	0	2	2	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:215646099G>T	ENST00000260947.4	-	4	633	c.499C>A	c.(499-501)Cct>Act	p.P167T	BARD1_ENST00000449967.2_Missense_Mutation_p.P23T|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	167					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTATTGCAGGCTGGGTTTGC	0.403									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													102	102	102					2																	215646099		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.499C>A	2.37:g.215646099G>T	ENSP00000260947:p.Pro167Thr		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.P167T	ENST00000260947.4	37	c.499	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	11.40	1.627615	0.28978	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.73575	-0.76;-0.1	6.05	5.16	0.70880	.	0.179362	0.49916	D	0.000139	T	0.71375	0.3332	M	0.69823	2.125	0.32625	N	0.522751	B;P	0.44044	0.045;0.825	B;B	0.38712	0.012;0.28	T	0.78656	-0.2119	10	0.34782	T	0.22	-22.5322	12.7237	0.57156	0.0:0.2314:0.6489:0.1197	.	23;167	E7EUI3;Q99728	.;BARD1_HUMAN	T	167;23	ENSP00000260947:P167T;ENSP00000406752:P23T	ENSP00000260947:P167T	P	-	1	0	BARD1	215354344	0.605000	0.26941	0.185000	0.23176	0.007000	0.05969	1.300000	0.33436	1.553000	0.49476	-0.182000	0.12963	CCT	BARD1	-	NULL	ENSG00000138376		0.403	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	-	0	79	0	G	NM_000465		215646099	-1	tier1	-	no_errors	ENST00000260947	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.720	T	T	215646099	G	T	215646099	3	4	11	1	0	0	0	0	1	0	0	0	1313	1203	42	3	1866	3	BARD1	2	215646099	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	24568398	215646099	27553274	33	2901											
DOCK10	55619	genome.wustl.edu	37	chr2	225672674	225672674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgcttagccattagatttTttaggacagctaaagctaag	14	13	8	6	0	0	1	0	0	0	1	0	2	0	2	1	1	4	3	1	1	7	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:225672674T>C	ENST00000258390.7	-	32	3606	c.3539A>G	c.(3538-3540)aAa>aGa	p.K1180R	DOCK10_ENST00000409592.3_Missense_Mutation_p.K1174R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1180					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTAGATTTTTTAGGACAGC	0.423																																																	0													90	86	87					2																	225672674		1875	4100	5975	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.3539A>G	2.37:g.225672674T>C	ENSP00000258390:p.Lys1180Arg		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K1180R	ENST00000258390.7	37	c.3539	CCDS46528.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.79|16.79	3.219747|3.219747	0.58560|0.58560	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	D|D;D	0.96856|0.96802	-4.15|-4.13;-4.13	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.160550|0.160550	0.53938|0.53938	D|D	0.000046|0.000046	D|D	0.90844|0.90844	0.7124|0.7124	N|N	0.17764|0.17764	0.52|0.52	0.40160|0.40160	D|D	0.977059|0.977059	.|B;B;B	.|0.21606	.|0.058;0.012;0.034	.|B;B;B	.|0.18561	.|0.022;0.004;0.022	D|D	0.87259|0.87259	0.2278|0.2278	8|10	0.87932|0.26408	D|T	0|0.33	.|.	9.9406|9.9406	0.41578|0.41578	0.0:0.0767:0.0:0.9233|0.0:0.0767:0.0:0.9233	.|.	.|1180;43;1174	.|Q96BY6;B4DF07;B3FL70	.|DOC10_HUMAN;.;.	E|R	71|1174;1180	ENSP00000395178:K71E|ENSP00000386694:K1174R;ENSP00000258390:K1180R	ENSP00000395178:K71E|ENSP00000258390:K1180R	K|K	-|-	1|2	0|0	DOCK10|DOCK10	225380918|225380918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.733000|5.733000	0.68571|0.68571	2.097000|2.097000	0.63578|0.63578	0.477000|0.477000	0.44152|0.44152	AAA|AAA	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.423	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0	24	0	T			225672674	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	37.04	17	10	SNP	1.000	C	C	225672674	T	C	225672674	3	2	11	1	0	0	0	0	1	0	0	0	4699	1841	64	4	3121	4	DOCK10	2	225672674	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	10026575	225672674	17526699	34	2902											
UGT1A6	54578	genome.wustl.edu	37	chr2	234601834	234601834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattgtagtggtggtgcctGaagttaatttgcttttgaaa	10	16	12	3	0	0	3	0	2	0	1	0	3	0	3	1	2	2	3	1	2	4	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:234601834G>A	ENST00000305139.6	+	1	323	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A6_ENST00000373424.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	62					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGTGGTGCCTGAAGTTAATTT	0.453																																																	0													98	96	97					2																	234601834		2203	4300	6503	SO:0001583	missense	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.184G>A	2.37:g.234601834G>A	ENSP00000303174:p.Glu62Lys		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E62K	ENST00000305139.6	37	c.184	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362029	0.24684	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.60797	0.16;0.16	5.06	4.19	0.49359	.	.	.	.	.	T	0.58509	0.2127	M	0.64997	1.995	0.26225	N	0.979105	B;B	0.21309	0.054;0.044	B;B	0.33799	0.091;0.17	T	0.56631	-0.7947	9	0.56958	D	0.05	.	9.5743	0.39447	0.1575:0.0:0.8425:0.0	.	62;62	B8K289;P19224	.;UD16_HUMAN	K	62	ENSP00000389637:E62K;ENSP00000303174:E62K	ENSP00000303174:E62K	E	+	1	0	UGT1A6	234266573	0.987000	0.35691	0.793000	0.32043	0.193000	0.23685	3.225000	0.51246	1.354000	0.45846	0.655000	0.94253	GAA	UGT1A6	-	pfam_UDP_glucos_trans	ENSG00000167165		0.453	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	-	0	53	0	G	NM_205862		234601834	1	tier1	-	no_errors	ENST00000305139	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.092	A	A	234601834	G	A	234601834	3	1	11	1	0	0	0	0	1	0	0	0	16998	1291	45	3	186	3	UGT1A6	2	234601834	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	8929160	234601834	8597539	35	2903											
PPP1R7	5510	genome.wustl.edu	37	chr2	242089933	242089933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggcggaacgcggcgcggGgcagcaacagtcgcaggaga	9	1	20	11	7	0	1	0	0	0	1	1	3	0	2	0	7	3	3	0	7	2	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr2:242089933G>A	ENST00000234038.6	+	1	497	c.23G>A	c.(22-24)gGg>gAg	p.G8E	PASK_ENST00000358649.4_5'Flank|PASK_ENST00000405260.1_5'Flank|PPP1R7_ENST00000402734.1_Intron|PASK_ENST00000403638.3_5'Flank|PASK_ENST00000234040.4_5'Flank|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G8E|PPP1R7_ENST00000272983.8_Missense_Mutation_p.G8E|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G8E|PPP1R7_ENST00000401987.1_Missense_Mutation_p.G8E|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G8E|PASK_ENST00000539818.1_5'Flank	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	8					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CGCGGCGCGGGGCAGCAACAG	0.721																																					NSCLC(62;446 1299 5417 11238 27640)												0													16	20	19					2																	242089933		2191	4286	6477	SO:0001583	missense	0			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9295	protein-coding gene	gene with protein product		602877	"protein phosphatase 1, regulatory (inhibitor) subunit 7"			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.23G>A	2.37:g.242089933G>A	ENSP00000234038:p.Gly8Glu		B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.G8E	ENST00000234038.6	37	c.23	CCDS2546.1	2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880182	0.33162	.	.	ENSG00000115685	ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000439916;ENST00000406106;ENST00000401987	T;T;T;T;T;T;T	0.52057	0.71;0.85;0.71;0.84;0.68;1.16;0.92	4.51	3.56	0.40772	.	0.134531	0.49916	D	0.000139	T	0.24851	0.0603	N	0.08118	0	0.39861	D	0.97338	B;B;B;B	0.33238	0.13;0.18;0.403;0.281	B;B;B;B	0.28305	0.056;0.025;0.088;0.041	T	0.17167	-1.0378	10	0.36615	T	0.2	-22.8604	11.5749	0.50856	0.0:0.0:0.822:0.1779	.	8;8;8;8	Q15435-2;Q15435;Q15435-3;B5MBZ8	.;PP1R7_HUMAN;.;.	E	8	ENSP00000385657:G8E;ENSP00000272983:G8E;ENSP00000234038:G8E;ENSP00000385498:G8E;ENSP00000409719:G8E;ENSP00000385022:G8E;ENSP00000385466:G8E	ENSP00000234038:G8E	G	+	2	0	PPP1R7	241738606	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.964000	0.49192	2.058000	0.61347	0.491000	0.48974	GGG	PPP1R7	-	NULL	ENSG00000115685		0.721	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R7	HGNC	protein_coding	OTTHUMT00000257244.4	-	0	44	0	G	NM_002712		242089933	1	tier1	-	no_errors	ENST00000234038	ensembl	human	known	74_37	missense	48.21	29	27	SNP	1.000	A	A	242089933	G	A	242089933	3	1	11	1	0	0	0	0	1	0	0	0	12418	1232	43	3	25	3	PPP1R7	2	242089933	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	7488099	242089933	1109440	36	2904											
LRRN1	57633	genome.wustl.edu	37	chr3	3886722	3886722	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaaaatcagattaccGagatgactgattactgtcta	14	11	10	6	1	2	4	1	2	1	2	2	7	2	6	1	2	2	0	1	2	5	3	rs377314657		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:3886722G>T	ENST00000319331.3	+	2	1158	c.397G>T	c.(397-399)Gag>Tag	p.E133*	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	133						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCAGATTACCGAGATGACTGA	0.428																																																	0													71	73	72					3																	3886722		2203	4300	6503	SO:0001587	stop_gained	0			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.397G>T	3.37:g.3886722G>T	ENSP00000314901:p.Glu133*		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E133*	ENST00000319331.3	37	c.397	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.778567	0.99261	.	.	ENSG00000175928	ENST00000319331	.	.	.	5.76	5.76	0.90799	.	0.048895	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	.	.	.	X	133	.	ENSP00000314901:E133X	E	+	1	0	LRRN1	3861722	1.000000	0.71417	0.883000	0.34634	0.807000	0.45602	9.787000	0.99055	2.713000	0.92767	0.655000	0.94253	GAG	LRRN1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000175928		0.428	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	-	0	48	0	G	NM_020873		3886722	1	tier1	-	no_errors	ENST00000319331	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T	T	3886722	G	T	3886722	4	4	11	1	0	0	0	0	0	1	0	0	9069	1059	37	2	399	2	LRRN1	3	3886722	Nonsense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		3886722	194135708	37	2905											
IL17RE	132014	genome.wustl.edu	37	chr3	9948460	9948460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcccctccccagacatctCccacaagggacttcgctcta	9	8	5	19	1	2	1	0	0	2	1	6	2	4	2	5	1	0	1	5	1	2	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:9948460C>T	ENST00000383814.3	+	5	542	c.437C>T	c.(436-438)tCc>tTc	p.S146F	IL17RE_ENST00000295980.3_Missense_Mutation_p.S146F|IL17RE_ENST00000454190.2_Missense_Mutation_p.S146F|IL17RE_ENST00000421412.1_Missense_Mutation_p.S179F	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	146					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S146F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CCAGACATCTCCCACAAGGGA	0.547																																																	1	Substitution - Missense(1)	skin(1)											143	141	142					3																	9948460		2203	4300	6503	SO:0001583	missense	0			AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"Interleukins and interleukin receptors"	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.437C>T	3.37:g.9948460C>T	ENSP00000373325:p.Ser146Phe		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	SNP	pfam_SEFIR	p.S179F	ENST00000383814.3	37	c.536	CCDS2589.1	3	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122792	0.56613	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000454992;ENST00000441648	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.52	2.75	0.32379	.	0.567605	0.17197	N	0.183282	T	0.29652	0.0740	L	0.58101	1.795	0.09310	N	1	D;B;P	0.59767	0.986;0.002;0.924	P;B;B	0.54100	0.742;0.007;0.34	T	0.09185	-1.0686	10	0.59425	D	0.04	-5.4086	6.7406	0.23433	0.0:0.6959:0.1449:0.1592	.	146;146;146	Q8NFR9-3;Q8NFR9-5;Q8NFR9	.;.;I17RE_HUMAN	F	179;146;146;146;106;29	ENSP00000404916:S179F;ENSP00000295980:S146F;ENSP00000373325:S146F;ENSP00000388086:S146F;ENSP00000400768:S106F	ENSP00000295980:S146F	S	+	2	0	IL17RE	9923460	0.000000	0.05858	0.001000	0.08648	0.879000	0.50718	0.716000	0.25836	0.281000	0.22233	0.655000	0.94253	TCC	IL17RE	-	NULL	ENSG00000163701		0.547	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RE	HGNC	protein_coding	OTTHUMT00000250529.1		0	47	0	C	NM_153480		9948460	1			no_errors	ENST00000421412	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.001	T	T	9948460	C	T	9948460	3	4	11	1	0	0	0	0	1	0	0	0	7670	855	30	3	455	3	IL17RE	3	9948460	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	6061738	9948460	188073970	38	2906											
FANCD2	2177	genome.wustl.edu	37	chr3	10114581	10114581	+	Frame_Shift_Del	DEL	G	G	-																															cagactatgtccctcctcttGgaaactttgatgtggaaact																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:10114581delG	ENST00000419585.1	+	27	2682	c.2521delG	c.(2521-2523)ggafs	p.G841fs	FANCD2_ENST00000383807.1_Frame_Shift_Del_p.G841fs|FANCD2_ENST00000383806.1_Frame_Shift_Del_p.G841fs|FANCD2_ENST00000287647.3_Frame_Shift_Del_p.G841fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	841					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CCCTCCTCTTGGAAACTTTGA	0.378			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"Fanconi anemia, complementation group D2"		L	0													115	105	109					3																	10114581		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"Fanconi anemia, complementation groups"	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2521delG	3.37:g.10114581delG	ENSP00000398754:p.Gly841fs		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.G841fs	ENST00000419585.1	37	c.2521	CCDS33696.1	3																																																																																			FANCD2	-	NULL	ENSG00000144554		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1		0	77	0	G			10114581	1	tier1		no_errors	ENST00000287647	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	10114581	G	-	10114581	7	5	11	1	0	1	0	1	0	0	0	0	5687	1349	47	0	2623	0	FANCD2	3	10114581	Frame_Shift_Del	DEL	G	TCGA-2H-A9GQ-01A-11D-A37C-09	166121	10114581	187907849	39	2907											
TGFBR2	7048	genome.wustl.edu	37	chr3	30664745	30664745	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccagctgtaataggaCtgcccatccactgagacata	11	8	8	14	0	0	1	0	1	0	1	1	3	1	2	4	1	3	2	4	1	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:30664745C>T	ENST00000295754.5	+	1	476				TGFBR2_ENST00000359013.4_Missense_Mutation_p.T50I	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)						activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTAATAGGACTGCCCATCCA	0.353																																																	0													68	65	66					3																	30664745		2201	4299	6500	SO:0001627	intron_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.94+16276C>T	3.37:g.30664745C>T			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.T50I	ENST00000295754.5	37	c.149	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993551	0.35131	.	.	ENSG00000163513	ENST00000359013	D	0.85088	-1.94	3.09	1.22	0.21188	.	0.940103	0.08894	N	0.878148	T	0.70745	0.3259	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.58515	-0.7623	10	0.52906	T	0.07	.	4.2244	0.10574	0.0:0.6227:0.2406:0.1367	.	50	D2JYI1	.	I	50	ENSP00000351905:T50I	ENSP00000351905:T50I	T	+	2	0	TGFBR2	30639749	0.359000	0.24955	0.024000	0.17045	0.958000	0.62258	0.310000	0.19356	0.301000	0.22738	0.655000	0.94253	ACT	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2	ENSG00000163513		0.353	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	84	0	C			30664745	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	36.49	47	27	SNP	0.053	T	T	30664745	C	T	30664745	1	4	11	0	1	0	0	0	0	0	0	0	15869	565	20	3		3	TGFBR2	3	30664745	Intron	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	20550164	30664745	167357685	40	2908											
CCR4	1233	genome.wustl.edu	37	chr3	32994925	32994925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttaaaaaatgaaccccaCggatatagcagacaccaccc	17	5	7	12	1	0	2	0	1	0	1	0	4	0	3	4	1	2	2	4	1	6	3	rs200865776		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:32994925C>T	ENST00000330953.5	+	2	179	c.11C>T	c.(10-12)aCg>aTg	p.T4M		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	4					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						ATGAACCCCACGGATATAGCA	0.463																																																	0													57	56	56					3																	32994925		2203	4300	6503	SO:0001583	missense	0			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.11C>T	3.37:g.32994925C>T	ENSP00000332659:p.Thr4Met		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.T4M	ENST00000330953.5	37	c.11	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029762	0.35797	.	.	ENSG00000183813	ENST00000330953	T	0.67865	-0.29	5.22	4.22	0.49857	.	0.786555	0.10791	N	0.633682	T	0.54775	0.1879	L	0.33485	1.01	0.26660	N	0.971936	B	0.22211	0.066	B	0.11329	0.006	T	0.49380	-0.8946	10	0.87932	D	0	.	8.7554	0.34643	0.0:0.7902:0.0:0.2098	.	4	P51679	CCR4_HUMAN	M	4	ENSP00000332659:T4M	ENSP00000332659:T4M	T	+	2	0	CCR4	32969929	0.001000	0.12720	0.945000	0.38365	0.721000	0.41392	0.857000	0.27831	2.447000	0.82792	0.655000	0.94253	ACG	CCR4	-	NULL	ENSG00000183813		0.463	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	-	0	49	0	C			32994925	1	tier1	rs200865776	no_errors	ENST00000330953	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.679	T	T	32994925	C	T	32994925	3	4	11	1	0	0	0	0	1	0	0	0	2950	536	19	1	13	1	CCR4	3	32994925	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	2330180	32994925	165027505	41	2909											
ARPP21	10777	genome.wustl.edu	37	chr3	35750536	35750536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaggaatatcagagaGtgagggagagaatatttgca	17	7	15	2	0	1	5	1	1	0	4	1	10	1	7	0	2	1	1	0	2	5	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:35750536G>C	ENST00000187397.4	+	11	1327	c.871G>C	c.(871-873)Gtg>Ctg	p.V291L	ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	291	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATATCAGAGAGTGAGGGAGAG	0.413																																																	0													174	173	174					3																	35750536		2203	4300	6503	SO:0001583	missense	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.871G>C	3.37:g.35750536G>C	ENSP00000187397:p.Val291Leu		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.V291L	ENST00000187397.4	37	c.871	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012714	0.93346	.	.	ENSG00000172995	ENST00000187397	T	0.44482	0.92	5.94	5.94	0.96194	SUZ domain (1);	0.181927	0.35805	N	0.002978	T	0.61286	0.2335	L	0.50333	1.59	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.60439	-0.7263	10	0.87932	D	0	.	20.4127	0.99019	0.0:0.0:1.0:0.0	.	291	Q9UBL0	ARP21_HUMAN	L	291	ENSP00000187397:V291L	ENSP00000187397:V291L	V	+	1	0	ARPP21	35725540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.755000	0.91646	2.829000	0.97493	0.579000	0.79373	GTG	ARPP21	-	NULL	ENSG00000172995		0.413	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	-	0	30	0	G	NM_198399		35750536	1	tier1	-	no_errors	ENST00000187397	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	C	C	35750536	G	C	35750536	3	2	11	1	0	0	0	0	1	0	0	0	979	1029	36	5	918	5	ARPP21	3	35750536	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2755611	35750536	162271894	42	2910											
SNRK	54861	genome.wustl.edu	37	chr3	43344790	43344790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattttgccgtggttaaacTtgccaggcatgtctttacgg	7	14	10	10	2	1	0	0	0	1	0	1	0	1	0	3	3	4	2	3	3	3	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:43344790T>A	ENST00000296088.7	+	3	399	c.95T>A	c.(94-96)cTt>cAt	p.L32H	SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Missense_Mutation_p.L32H|SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Missense_Mutation_p.L32H	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTGGTTAAACTTGCCAGGCAT	0.443																																																	0													130	126	127					3																	43344790		1883	4110	5993	SO:0001583	missense	0			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.95T>A	3.37:g.43344790T>A	ENSP00000296088:p.Leu32His			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.L32H	ENST00000296088.7	37	c.95	CCDS43075.1	3	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437528	0.83885	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088	D;D;D	0.84873	-1.91;-1.91;-1.91	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92899	0.7741	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.956;0.994	D	0.93988	0.7264	10	0.87932	D	0	.	15.7349	0.77834	0.0:0.0:0.0:1.0	.	32;32	Q9NRH2-2;Q9NRH2	.;SNRK_HUMAN	H	32	ENSP00000401246:L32H;ENSP00000411375:L32H;ENSP00000296088:L32H	ENSP00000296088:L32H	L	+	2	0	SNRK	43319794	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.112000	0.64535	0.533000	0.62120	CTT	SNRK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163788		0.443	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRK	HGNC	protein_coding	OTTHUMT00000344325.1	-	0	52	0	T	NM_017719		43344790	1	tier1	-	no_errors	ENST00000296088	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	A	A	43344790	T	A	43344790	3	1	11	1	0	0	0	0	1	0	0	0	14896	1609	56	5	97	5	SNRK	3	43344790	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	7594254	43344790	154677640	43	2911											
LARS2	23395	genome.wustl.edu	37	chr3	45530292	45530292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcacagagagactgagCagctctgctgaggttggtga	10	8	16	7	0	1	5	0	3	1	2	1	7	1	5	0	3	3	5	0	3	0	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:45530292C>T	ENST00000415258.1	+	11	1368	c.1227C>T	c.(1225-1227)agC>agT	p.S409S	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Silent_p.S409S|LARS2_ENST00000414984.1_Silent_p.S366S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	409					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAGACTGAGCAGCTCTGCTG	0.468																																																	0													116	108	111					3																	45530292		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1227C>T	3.37:g.45530292C>T				Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.S409	ENST00000415258.1	37	c.1227	CCDS2728.1	3																																																																																			LARS2	-	superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-ligase_bac/mito	ENSG00000011376		0.468	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	-	0	81	0	C	NM_015340		45530292	1	tier1	-	no_errors	ENST00000265537	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.015	T	T	45530292	C	T	45530292	2	4	11	1	0	0	0	0	0	0	0	1	8663	709	25	3		3	LARS2	3	45530292	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	2185502	45530292	152492138	44	2912											
MYH15	22989	genome.wustl.edu	37	chr3	108205371	108205371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgcagataccaggagcaGgtctagagtgggaaaacgat	14	8	13	6	1	1	2	0	0	1	2	1	5	1	4	1	3	4	2	1	3	4	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:108205371G>T	ENST00000273353.3	-	11	990	c.934C>A	c.(934-936)Ctg>Atg	p.L312M		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	312	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCAGGAGCAGGTCTAGAGTG	0.428																																																	0													78	78	78					3																	108205371		1871	4105	5976	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.934C>A	3.37:g.108205371G>T	ENSP00000273353:p.Leu312Met			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.L312M	ENST00000273353.3	37	c.934	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.490146	0.01018	.	.	ENSG00000144821	ENST00000273353	D	0.87256	-2.23	5.47	0.024	0.14140	Myosin head, motor domain (2);	.	.	.	.	T	0.56688	0.2002	N	0.00960	-1.095	0.09310	N	0.999997	B	0.02656	0.0	B	0.12156	0.007	T	0.53136	-0.8481	9	0.02654	T	1	.	2.59	0.04840	0.1102:0.1244:0.2298:0.5355	.	312	Q9Y2K3	MYH15_HUMAN	M	312	ENSP00000273353:L312M	ENSP00000273353:L312M	L	-	1	2	MYH15	109688061	0.796000	0.28864	0.009000	0.14445	0.451000	0.32288	0.574000	0.23714	-0.531000	0.06340	-0.520000	0.04383	CTG	MYH15	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000144821		0.428	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1		0	51	0	G	XM_036988		108205371	-1			no_errors	ENST00000273353	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.791	T	T	108205371	G	T	108205371	3	4	11	1	0	0	0	0	1	0	0	0	10072	991	35	3	5034	3	MYH15	3	108205371	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	62675079	108205371	89817059	45	2913											
KPNA1	3836	genome.wustl.edu	37	chr3	122152584	122152584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcttgtccgaaattcagCagtttgtaaaatactaatga	13	16	6	6	1	2	1	1	1	1	0	3	2	3	1	1	0	2	3	1	0	5	8			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:122152584C>A	ENST00000344337.6	-	12	1350	c.1174G>T	c.(1174-1176)Gct>Tct	p.A392S	RP11-299J3.8_ENST00000609469.1_RNA|KPNA1_ENST00000466923.1_5'UTR|RP11-299J3.8_ENST00000608346.1_RNA	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	392	Binding to RAG1.|NLS binding site (minor). {ECO:0000250}.				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CGAAATTCAGCAGTTTGTAAA	0.363																																					Melanoma(12;340 801 11196 19797)												0													95	95	95					3																	122152584		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.1174G>T	3.37:g.122152584C>A	ENSP00000343701:p.Ala392Ser		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.A392S	ENST00000344337.6	37	c.1174	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458938	0.84317	.	.	ENSG00000114030	ENST00000344337	T	0.27557	1.66	5.24	5.24	0.73138	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39436	0.1078	L	0.55743	1.74	0.80722	D	1	B	0.29162	0.235	B	0.38194	0.267	T	0.28744	-1.0034	10	0.59425	D	0.04	-10.6356	17.9888	0.89162	0.0:1.0:0.0:0.0	.	392	P52294	IMA1_HUMAN	S	392	ENSP00000343701:A392S	ENSP00000343701:A392S	A	-	1	0	KPNA1	123635274	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.651000	0.83577	2.724000	0.93272	0.563000	0.77884	GCT	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.363	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1	-	0	87	0	C	NM_002264		122152584	-1	tier1	-	no_errors	ENST00000344337	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	A	A	122152584	C	A	122152584	3	1	11	1	0	0	0	0	1	0	0	0	8456	710	25	3	454	3	KPNA1	3	122152584	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	13947213	122152584	75869846	46	2914											
ZNF148	7707	genome.wustl.edu	37	chr3	124952122	124952122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcgcatattccctgctgTtgttacttgctgcttgaaga	7	15	9	10	1	1	2	1	1	0	1	2	2	2	2	1	0	5	6	1	0	3	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:124952122T>A	ENST00000360647.4	-	9	1933	c.1448A>T	c.(1447-1449)aAc>aTc	p.N483I	ZNF148_ENST00000485866.1_Missense_Mutation_p.N483I|ZNF148_ENST00000492394.1_Missense_Mutation_p.N483I|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.N483I|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	483					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCCCTGCTGTTGTTACTTGC	0.463																																																	0													128	128	128					3																	124952122		2203	4300	6503	SO:0001583	missense	0			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"Zinc fingers, C2H2-type"	12933	protein-coding gene	gene with protein product		601897	"zinc finger protein 148 (pHZ-52)"			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1448A>T	3.37:g.124952122T>A	ENSP00000353863:p.Asn483Ile		D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N483I	ENST00000360647.4	37	c.1448	CCDS3031.1	3	.	.	.	.	.	.	.	.	.	.	T	12.82	2.051734	0.36181	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.23	0.145	0.14829	.	0.173393	0.64402	D	0.000006	T	0.29620	0.0739	L	0.42245	1.32	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.06935	-1.0799	10	0.87932	D	0	-3.4658	5.4376	0.16490	0.0:0.2825:0.1367:0.5808	.	483	Q9UQR1	ZN148_HUMAN	I	483	ENSP00000353863:N483I;ENSP00000420335:N483I;ENSP00000419322:N483I;ENSP00000420448:N483I	ENSP00000353863:N483I	N	-	2	0	ZNF148	126434812	0.998000	0.40836	0.717000	0.30585	0.995000	0.86356	0.699000	0.25586	-0.104000	0.12154	0.533000	0.62120	AAC	ZNF148	-	NULL	ENSG00000163848		0.463	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF148	HGNC	protein_coding	OTTHUMT00000355452.4	-	0	35	0	T	NM_021964		124952122	-1	tier1	-	no_errors	ENST00000360647	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.905	A	A	124952122	T	A	124952122	3	1	11	1	0	0	0	0	1	0	0	0	17782	1725	60	5	940	5	ZNF148	3	124952122	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	2799538	124952122	73070308	47	2915											
AMOTL2	51421	genome.wustl.edu	37	chr3	134079164	134079164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgccaggatctgctccTccttctctcgcagttgttct	4	13	8	16	2	3	0	0	0	3	0	7	1	5	1	4	1	2	4	4	1	0	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:134079164T>C	ENST00000422605.2	-	7	1833	c.1667A>G	c.(1666-1668)gAg>gGg	p.E556G	AMOTL2_ENST00000513145.1_Missense_Mutation_p.E554G|AMOTL2_ENST00000249883.5_Missense_Mutation_p.E556G|AMOTL2_ENST00000514516.1_Missense_Mutation_p.E614G			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	556					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GATCTGCTCCTCCTTCTCTCG	0.612																																																	0													102	79	87					3																	134079164		2203	4300	6503	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1667A>G	3.37:g.134079164T>C	ENSP00000409999:p.Glu556Gly		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.E556G	ENST00000422605.2	37	c.1667		3	.	.	.	.	.	.	.	.	.	.	T	28.9	4.957633	0.92726	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.31247	1.5;1.52;1.56;1.66	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63207	-0.6689	10	0.56958	D	0.05	-14.108	15.1114	0.72359	0.0:0.0:0.0:1.0	.	554;556;614	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	G	556;556;614;554	ENSP00000249883:E556G;ENSP00000409999:E556G;ENSP00000424765:E614G;ENSP00000425475:E554G	ENSP00000249883:E556G	E	-	2	0	AMOTL2	135561854	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.991000	0.88244	1.957000	0.56846	0.459000	0.35465	GAG	AMOTL2	-	pfam_Angiomotin_C	ENSG00000114019		0.612	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	-	0	62	0	T	NM_016201		134079164	-1	tier1	-	no_errors	ENST00000249883	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	C	C	134079164	T	C	134079164	3	2	11	1	0	0	0	0	1	0	0	0	584	1551	54	4	691	4	AMOTL2	3	134079164	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	9127042	134079164	63943266	48	2916											
ESYT3	83850	genome.wustl.edu	37	chr3	138191618	138191618	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccattcgcatggccgccCaagaggctggctcccagcat	7	7	10	17	2	0	1	0	0	0	1	3	1	2	1	5	3	1	4	5	3	1	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:138191618C>A	ENST00000389567.4	+	18	2340	c.2154C>A	c.(2152-2154)ccC>ccA	p.P718P		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	718					lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CATGGCCGCCCAAGAGGCTGG	0.582																																																	0													87	96	93					3																	138191618		2073	4209	6282	SO:0001819	synonymous_variant	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.2154C>A	3.37:g.138191618C>A			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.P718	ENST00000389567.4	37	c.2154	CCDS3101.2	3																																																																																			ESYT3	-	NULL	ENSG00000158220		0.582	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	-	0	60	0	C	NM_031913		138191618	1	tier1	-	no_errors	ENST00000389567	ensembl	human	known	74_37	silent	41.67	28	20	SNP	0.003	A	A	138191618	C	A	138191618	2	1	11	1	0	0	0	0	0	0	0	1	5282	581	21	3		3	ESYT3	3	138191618	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	4112454	138191618	59830812	49	2917											
TRIM42	287015	genome.wustl.edu	37	chr3	140407140	140407140	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagcgaagctcctccaTgttgtccttcagcaacactg	10	10	7	14	1	1	0	1	0	0	0	4	1	4	0	4	0	5	3	4	0	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:140407140T>A	ENST00000286349.3	+	3	1807	c.1616T>A	c.(1615-1617)aTg>aAg	p.M539K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	539						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTCCTCCATGTTGTCCTTC	0.587																																																	0													91	82	85					3																	140407140		2203	4300	6503	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1616T>A	3.37:g.140407140T>A	ENSP00000286349:p.Met539Lys		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.M539K	ENST00000286349.3	37	c.1616	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	T	6.939	0.543078	0.13250	.	.	ENSG00000155890	ENST00000286349	T	0.36878	1.23	5.52	3.12	0.35913	.	0.758882	0.11290	N	0.579325	T	0.18509	0.0444	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.17471	-1.0368	10	0.33141	T	0.24	-13.0578	7.4514	0.27240	0.0:0.1795:0.0:0.8205	.	539	Q8IWZ5	TRI42_HUMAN	K	539	ENSP00000286349:M539K	ENSP00000286349:M539K	M	+	2	0	TRIM42	141889830	0.821000	0.29204	0.273000	0.24645	0.192000	0.23643	1.590000	0.36654	1.042000	0.40150	0.533000	0.62120	ATG	TRIM42	-	NULL	ENSG00000155890		0.587	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2		0	52	0	T	NM_152616		140407140	1			no_errors	ENST00000286349	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.210	A	A	140407140	T	A	140407140	3	1	11	1	0	0	0	0	1	0	0	0	16565	1464	51	5	1626	5	TRIM42	3	140407140	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	2215522	140407140	57615290	50	2918											
TRPC1	7220	genome.wustl.edu	37	chr3	142467210	142467210	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttacaatgctcttaaaAcaggatgtatctctacccaa	14	13	4	10	0	3	0	0	0	3	0	4	1	3	1	1	1	4	2	1	1	7	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:142467210A>G	ENST00000476941.1	+	4	1026	c.540A>G	c.(538-540)aaA>aaG	p.K180K	TRPC1_ENST00000273482.6_Silent_p.K146K	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	180					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGCTCTTAAAACAGGATGTAT	0.408																																																	0													166	169	168					3																	142467210		2203	4300	6503	SO:0001819	synonymous_variant	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.540A>G	3.37:g.142467210A>G			Q14CE4	Silent	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.K180	ENST00000476941.1	37	c.540	CCDS58856.1	3																																																																																			TRPC1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel	ENSG00000144935		0.408	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	-	0	66	0	A	NM_003304		142467210	1	tier1	-	no_errors	ENST00000476941	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.996	G	G	142467210	A	G	142467210	2	3	11	1	0	0	0	0	0	0	0	1	16626	40	2	4		4	TRPC1	3	142467210	Silent	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	2060070	142467210	55555220	51	2919											
MME	4311	genome.wustl.edu	37	chr3	154802112	154802112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgcactctatgcaacctaCgatggtgagttactcccaca	11	10	7	13	2	1	1	0	1	1	0	3	2	2	1	2	1	4	3	2	1	4	3	rs202173429		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:154802112C>T	ENST00000460393.1	+	2	276	c.156C>T	c.(154-156)taC>taT	p.Y52Y	MME_ENST00000492661.1_Silent_p.Y52Y|MME_ENST00000462745.1_Silent_p.Y52Y|MME_ENST00000493237.1_Silent_p.Y52Y|MME_ENST00000382989.3_Silent_p.Y52Y|MME_ENST00000360490.2_Silent_p.Y52Y	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	52					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATGCAACCTACGATGGTGAGT	0.468													C|||	1	0.000199681	0	0	5008	,	,		16222	0		0.001	False		,,,				2504	0																0													125	115	119					3																	154802112		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"CD molecules"	7154	protein-coding gene	gene with protein product	"neutral endopeptidase", "enkephalinase", "neprilysin"	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.156C>T	3.37:g.154802112C>T			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Y52	ENST00000460393.1	37	c.156	CCDS3172.1	3																																																																																			MME	-	NULL	ENSG00000196549		0.468	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1		0	29	0	C	NM_000902		154802112	1			no_errors	ENST00000360490	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.761	T	T	154802112	C	T	154802112	2	4	11	1	0	0	0	0	0	0	0	1	9683	547	19	1		1	MME	3	154802112	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	12334902	154802112	43220318	52	2920											
HRG	3273	genome.wustl.edu	37	chr3	186387733	186387733	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctttcttacaggtgatcGgacaatgtaaggtaatagct	11	13	9	8	1	2	1	0	1	2	0	3	2	2	2	1	3	2	3	1	3	5	5	rs374953969		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr3:186387733G>C	ENST00000232003.4	+	3	387	c.307G>C	c.(307-309)Gga>Cga	p.G103R		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	103	Cystatin 1.		G -> E (in THPH11; HRG Tokushima 1; results in increased intracellular degradation and reduced protein secretion). {ECO:0000269|PubMed:9414276}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)	p.G103*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACAGGTGATCGGACAATGTAA	0.433																																																	1	Substitution - Nonsense(1)	lung(1)											140	120	127					3																	186387733		2203	4300	6503	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.307G>C	3.37:g.186387733G>C	ENSP00000232003:p.Gly103Arg		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.G103R	ENST00000232003.4	37	c.307	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951541	0.73787	.	.	ENSG00000113905	ENST00000232003	T	0.14022	2.54	5.19	5.19	0.71726	Proteinase inhibitor I25, cystatin (2);	0.130715	0.34986	N	0.003534	T	0.46054	0.1373	M	0.91090	3.175	0.39821	D	0.97283	D	0.89917	1.0	D	0.97110	1.0	T	0.58132	-0.7690	10	0.87932	D	0	-11.7388	14.5776	0.68262	0.0:0.0:1.0:0.0	.	103	P04196	HRG_HUMAN	R	103	ENSP00000232003:G103R	ENSP00000232003:G103R	G	+	1	0	HRG	187870427	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.725000	0.61979	2.581000	0.87130	0.655000	0.94253	GGA	HRG	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000113905		0.433	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	-	0	52	0	G	NM_000412		186387733	1	tier1	-	no_errors	ENST00000232003	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	C	C	186387733	G	C	186387733	3	2	11	1	0	0	0	0	1	0	0	0	7381	1117	39	5	317	5	HRG	3	186387733	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	31585621	186387733	11634697	53	2921											
NOP14	8602	genome.wustl.edu	37	chr4	2956223	2956223	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtttctcccgctcctcGccttcctgttgagtcttctt	1	18	7	15	3	3	1	0	1	3	0	8	1	5	1	4	1	0	3	4	1	0	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:2956223G>A	ENST00000314262.6	-	4	588	c.540C>T	c.(538-540)ggC>ggT	p.G180G	NOP14_ENST00000502735.1_Silent_p.G180G|NOP14_ENST00000416614.2_Silent_p.G180G|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.G180G	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	180					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.G180G(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCGCTCCTCGCCTTCCTGTT	0.527																																																	1	Substitution - coding silent(1)	endometrium(1)											125	118	120					4																	2956223		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.540C>T	4.37:g.2956223G>A			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	pfam_Nop14	p.G180	ENST00000314262.6	37	c.540	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.527	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0	43	0	G	NM_003703		2956223	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	silent	86.27	7	44	SNP	0.503	A	A	2956223	G	A	2956223	2	1	11	1	0	0	0	0	0	0	0	1	10575	1074	38	1		1	NOP14	4	2956223	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		2956223	188198053	54	2922											
GRK4	2868	genome.wustl.edu	37	chr4	3030968	3030968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtatacgtttagtccCgattggtggggacttggctg	9	12	14	6	2	0	0	0	0	0	0	1	3	1	1	1	4	1	3	1	4	5	6	rs147908042		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:3030968C>T	ENST00000398052.4	+	12	1444	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	GRK4_ENST00000504933.1_Silent_p.P367P|GRK4_ENST00000398051.4_Silent_p.P335P|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Silent_p.P335P	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	367	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGTTTAGTCCCGATTGGTGGG	0.333																																																	0								C	,,	0,4406		0,0,2203	88	89	88		1005,1101,1101	1.2	1	4	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GRK4	NM_001004056.1,NM_001004057.1,NM_182982.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	335/547,367/533,367/579	3030968	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1101C>T	4.37:g.3030968C>T			O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P367	ENST00000398052.4	37	c.1101	CCDS33946.1	4																																																																																			GRK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125388		0.333	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	-	0	88	0	C	NM_005307		3030968	1	tier1	rs147908042	no_errors	ENST00000398052	ensembl	human	known	74_37	silent	85.33	11	64	SNP	0.995	T	T	3030968	C	T	3030968	2	4	11	1	0	0	0	0	0	0	0	1	6818	639	23	1		1	GRK4	4	3030968	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	74745	3030968	188123308	55	2923											
HTRA3	94031	genome.wustl.edu	37	chr4	8271836	8271836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggctacgtgcccgacctCtgcaactgctgcctggtgtg	4	9	14	14	3	1	0	0	0	1	0	1	1	1	0	3	3	6	3	3	3	2	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:8271836C>T	ENST00000307358.2	+	1	345	c.141C>T	c.(139-141)ctC>ctT	p.L47L	HTRA3_ENST00000382512.3_Silent_p.L47L	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	47	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TGCCCGACCTCTGCAACTGCT	0.766																																																	0													6	6	6					4																	8271836		1614	3341	4955	SO:0001819	synonymous_variant	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.141C>T	4.37:g.8271836C>T			Q7Z7A2	Silent	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.L47	ENST00000307358.2	37	c.141	CCDS3400.1	4																																																																																			HTRA3	-	smart_IGFBP-like	ENSG00000170801		0.766	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0	8	0	C	NM_053044		8271836	1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	silent	100.00	0	5	SNP	1.000	T	T	8271836	C	T	8271836	2	4	11	1	0	0	0	0	0	0	0	1	7482	900	32	3		3	HTRA3	4	8271836	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	5240868	8271836	182882440	56	2924											
CPZ	8532	genome.wustl.edu	37	chr4	8605848	8605848	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggacctacagcatcggGcgcagcttcgacggcaggga	9	4	15	13	4	0	0	0	0	0	0	2	3	0	2	2	4	3	4	2	4	1	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:8605848G>A	ENST00000360986.4	+	4	816	c.642G>A	c.(640-642)ggG>ggA	p.G214G	CPZ_ENST00000382480.2_Silent_p.G77G|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Silent_p.G203G	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	214					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAGCATCGGGCGCAGCTTCG	0.692																																																	0													15	14	15					4																	8605848		2188	4290	6478	SO:0001819	synonymous_variant	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.642G>A	4.37:g.8605848G>A			O00520|Q96MX2	Silent	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.G214	ENST00000360986.4	37	c.642	CCDS33953.1	4																																																																																			CPZ	-	pfam_Peptidase_M14,prints_Peptidase_M14	ENSG00000109625		0.692	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0	14	0	G	NM_003652		8605848	1	tier1	-	no_errors	ENST00000360986	ensembl	human	known	74_37	silent	65.00	7	13	SNP	0.685	A	A	8605848	G	A	8605848	2	1	11	1	0	0	0	0	0	0	0	1	3846	1190	42	3		3	CPZ	4	8605848	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	334012	8605848	182548428	57	2925											
KLB	152831	genome.wustl.edu	37	chr4	39439551	39439551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttaaaagagtccaCgccagatgtgcagggccagt	10	12	10	9	1	1	2	0	0	1	2	2	2	2	2	3	1	1	1	3	1	2	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:39439551C>T	ENST00000257408.4	+	3	1638	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	514					carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAAGAGTCCACGCCAGATGTG	0.418																																																	0													97	93	94					4																	39439551		2203	4300	6503	SO:0001583	missense	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1541C>T	4.37:g.39439551C>T	ENSP00000257408:p.Thr514Met		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T514M	ENST00000257408.4	37	c.1541	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630754	0.46944	.	.	ENSG00000134962	ENST00000257408	T	0.28255	1.62	6.03	4.32	0.51571	.	0.210804	0.51477	D	0.000096	T	0.29620	0.0739	N	0.24115	0.695	0.35990	D	0.836654	D;D	0.67145	0.996;0.996	P;P	0.50490	0.642;0.548	T	0.33445	-0.9868	10	0.51188	T	0.08	-19.7687	13.2782	0.60200	0.0:0.8717:0.0:0.1283	.	514;514	B7ZL50;Q86Z14	.;KLOTB_HUMAN	M	514	ENSP00000257408:T514M	ENSP00000257408:T514M	T	+	2	0	KLB	39115946	0.836000	0.29430	0.706000	0.30403	0.334000	0.28698	1.664000	0.37439	0.897000	0.36392	-0.126000	0.14955	ACG	KLB	-	NULL	ENSG00000134962		0.418	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1		0	63	0	C	NM_175737		39439551	1			no_errors	ENST00000257408	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.988	T	T	39439551	C	T	39439551	3	4	11	1	0	0	0	0	1	0	0	0	8359	536	19	1	1551	1	KLB	4	39439551	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	30833703	39439551	151714725	58	2926											
UBE2K	3093	genome.wustl.edu	37	chr4	39776478	39776478	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaatgactctccgcacGgtattattgtcattgcaagc	9	12	9	11	2	2	1	1	1	1	0	3	1	2	1	1	1	3	5	1	1	4	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:39776478G>T	ENST00000261427.5	+	5	608	c.324G>T	c.(322-324)acG>acT	p.T108T	UBE2K_ENST00000295963.6_Intron|UBE2K_ENST00000438068.2_3'UTR|UBE2K_ENST00000503368.1_Silent_p.T57T|UBE2K_ENST00000445950.2_Silent_p.T108T	NM_001111112.1|NM_005339.4	NP_001104582.1|NP_005330.1	P61086	UBE2K_HUMAN	ubiquitin-conjugating enzyme E2K	108					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein K48-linked ubiquitination (GO:0070936)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)			large_intestine(1)|lung(1)|ovary(2)	4						CTCTCCGCACGGTATTATTGT	0.418																																					NSCLC(101;689 1592 16105 29682 31745)												0													59	59	59					4																	39776478		2203	4300	6503	SO:0001819	synonymous_variant	0			U58522	CCDS33976.1, CCDS47043.1, CCDS47044.1	4p14	2011-05-19	2011-05-19	2007-12-04	ENSG00000078140	ENSG00000078140		"Ubiquitin-conjugating enzymes E2"	4914	protein-coding gene	gene with protein product		602846	"huntingtin interacting protein 2", "ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)"	HIP2		8702625, 17873885	Standard	NM_005339		Approved	HYPG, UBC1	uc003guu.4	P61086	OTTHUMG00000160543	ENST00000261427.5:c.324G>T	4.37:g.39776478G>T			A6NJC1|A8K5Y9|B2RDF8|C9JGP1|O54806|P27924|Q16721|Q9CVV9|Q9Y2D3	Missense_Mutation	SNP	NULL	p.G30C	ENST00000261427.5	37	c.88	CCDS33976.1	4																																																																																			UBE2K	-	NULL	ENSG00000078140		0.418	UBE2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2K	HGNC	protein_coding	OTTHUMT00000361061.1	-	0	30	0	G	NM_005339		39776478	1	tier1	-	no_errors	ENST00000510719	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.909	T	T	39776478	G	T	39776478	2	4	11	1	0	0	0	0	0	0	0	1	16911	1103	39	2		2	UBE2K	4	39776478	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	336927	39776478	151377798	59	2927											
KIAA1211	57482	genome.wustl.edu	37	chr4	57180699	57180699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccaggctggaggagcGgaggcggcaggaggaggagg	9	1	24	7	3	0	0	0	0	0	0	0	7	0	7	1	11	1	2	1	11	0	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:57180699G>A	ENST00000504228.1	+	6	1136	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R344Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R337Q			Q6ZU35	K1211_HUMAN	KIAA1211	344	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGGAGGAGCggaggcggcag	0.697																																																	0													5	6	5					4																	57180699		1948	3864	5812	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1031G>A	4.37:g.57180699G>A	ENSP00000423366:p.Arg344Gln		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.R344Q	ENST00000504228.1	37	c.1031	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198513	0.22037	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.01963	4.53;4.53;4.53	4.97	-1.0	0.10196	.	.	.	.	.	T	0.01092	0.0036	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47433	-0.9118	9	0.34782	T	0.22	-0.0519	2.9311	0.05800	0.6406:0.125:0.1139:0.1205	.	337;337;344	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Q	344;344;337;254	ENSP00000264229:R344Q;ENSP00000423366:R344Q;ENSP00000444006:R337Q	ENSP00000264229:R344Q	R	+	2	0	KIAA1211	56875456	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-5.683000	0.00105	-0.035000	0.13691	-0.448000	0.05591	CGG	KIAA1211	-	NULL	ENSG00000109265		0.697	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	0	30	0	G	NM_020722		57180699	1	tier1	-	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.015	A	A	57180699	G	A	57180699	3	1	11	1	0	0	0	0	1	0	0	0	8242	1116	39	1	1049	1	KIAA1211	4	57180699	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	17404221	57180699	133973577	60	2928											
GK2	2712	genome.wustl.edu	37	chr4	80329142	80329142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgtcaagtttctcacaCgttctcgctatacactcgta	9	14	6	12	4	3	0	2	0	2	0	7	0	3	0	0	0	1	5	0	0	4	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:80329142C>T	ENST00000358842.3	-	1	230	c.213G>A	c.(211-213)acG>acA	p.T71T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	228					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTTTCTCACACGTTCTCGCTA	0.403																																																	0													179	176	177					4																	80329142		2203	4300	6503	SO:0001819	synonymous_variant	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.213G>A	4.37:g.80329142C>T			Q7Z4Q4	Silent	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.T71	ENST00000358842.3	37	c.213	CCDS3585.1	4																																																																																			GK2	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin	ENSG00000196475		0.403	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	-	0	64	0	C	NM_033214		80329142	-1	tier1	-	no_errors	ENST00000358842	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.808	T	T	80329142	C	T	80329142	2	4	11	1	0	0	0	0	0	0	0	1	6447	523	19	1		1	GK2	4	80329142	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	23148443	80329142	110825134	61	2929											
ABCG2	9429	genome.wustl.edu	37	chr4	89052313	89052313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgcaagccgaagagctGctgagaactgtaagttttct	10	13	11	7	1	1	2	0	1	1	2	1	4	1	2	1	0	5	6	1	0	4	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:89052313G>A	ENST00000237612.3	-	5	976	c.431C>T	c.(430-432)gCa>gTa	p.A144V	ABCG2_ENST00000515655.1_Missense_Mutation_p.A144V	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	144	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.A144E(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CCGAAGAGCTGCTGAGAACTG	0.403																																																	2	Substitution - Missense(2)	lung(2)											217	196	203					4																	89052313		2203	4300	6503	SO:0001583	missense	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.431C>T	4.37:g.89052313G>A	ENSP00000237612:p.Ala144Val		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A144V	ENST00000237612.3	37	c.431	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.692832	0.96793	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.40476	1.03;1.03	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.74945	-0.3491	10	0.87932	D	0	-1.7957	19.0867	0.93206	0.0:0.0:1.0:0.0	.	144;144;144	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	V	144	ENSP00000426917:A144V;ENSP00000237612:A144V	ENSP00000237612:A144V	A	-	2	0	ABCG2	89271337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.397000	0.97276	2.677000	0.91161	0.655000	0.94253	GCA	ABCG2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000118777		0.403	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1		0	45	0	G	NM_004827		89052313	-1			no_errors	ENST00000237612	ensembl	human	known	74_37	missense	6.90	26	2	SNP	1.000	A	A	89052313	G	A	89052313	3	1	11	1	0	0	0	0	1	0	0	0	69	1319	46	3	1584	3	ABCG2	4	89052313	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	8723171	89052313	102101963	62	2930											
CENPE	1062	genome.wustl.edu	37	chr4	104097163	104097163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccattctatctcacttaatGtatcaagagtgttactgaaa	13	15	5	8	0	3	2	2	1	2	1	5	2	4	2	1	0	1	2	1	0	6	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:104097163G>C	ENST00000265148.3	-	15	1522	c.1433C>G	c.(1432-1434)aCa>aGa	p.T478R	CENPE_ENST00000380026.3_Missense_Mutation_p.T478R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	478					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTCACTTAATGTATCAAGAGT	0.294																																																	0													116	116	116					4																	104097163		2202	4295	6497	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1433C>G	4.37:g.104097163G>C	ENSP00000265148:p.Thr478Arg		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T478R	ENST00000265148.3	37	c.1433	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285304	0.40394	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.54675	0.56;0.56;0.56	5.68	4.83	0.62350	.	.	.	.	.	T	0.52025	0.1709	L	0.44542	1.39	0.09310	N	1	P;D	0.60160	0.95;0.987	P;P	0.51355	0.667;0.648	T	0.40136	-0.9579	9	0.31617	T	0.26	.	9.5799	0.39481	0.0928:0.0:0.9072:0.0	.	478;478	Q02224-3;Q02224	.;CENPE_HUMAN	R	478	ENSP00000265148:T478R;ENSP00000369365:T478R;ENSP00000423981:T478R	ENSP00000265148:T478R	T	-	2	0	CENPE	104316612	0.078000	0.21339	0.097000	0.21041	0.705000	0.40729	2.772000	0.47678	2.679000	0.91253	0.557000	0.71058	ACA	CENPE	-	NULL	ENSG00000138778		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0	48	0	G			104097163	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.048	C	C	104097163	G	C	104097163	3	2	11	1	0	0	0	0	1	0	0	0	3237	1377	48	5	6812	5	CENPE	4	104097163	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	15044850	104097163	87057113	63	2931											
TBC1D9	23158	genome.wustl.edu	37	chr4	141580817	141580817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccagaaagcttcctcctCtttggcataaagcagcagca	12	8	8	13	0	1	1	0	0	1	1	3	1	3	1	3	1	5	5	3	1	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:141580817C>T	ENST00000442267.2	-	11	1920	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	616	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTTCCTCCTCTTTGGCATAA	0.408																																																	0													59	62	61					4																	141580817		2081	4227	6308	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1846G>A	4.37:g.141580817C>T	ENSP00000411197:p.Glu616Lys		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.E616K	ENST00000442267.2	37	c.1846	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.808910	0.96967	.	.	ENSG00000109436	ENST00000442267	T	0.13538	2.58	5.62	5.62	0.85841	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66035	-0.6023	10	0.87932	D	0	.	19.6768	0.95939	0.0:1.0:0.0:0.0	.	616	Q6ZT07	TBCD9_HUMAN	K	616	ENSP00000411197:E616K	ENSP00000411197:E616K	E	-	1	0	TBC1D9	141800267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.634000	0.89283	0.655000	0.94253	GAG	TBC1D9	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109436		0.408	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0	49	0	C	NM_015130		141580817	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	38.78	30	19	SNP	1.000	T	T	141580817	C	T	141580817	3	4	11	1	0	0	0	0	1	0	0	0	15674	922	32	3	1998	3	TBC1D9	4	141580817	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	37483654	141580817	49573459	64	2932											
DDX60L	91351	genome.wustl.edu	37	chr4	169342929	169342929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttgcgggtgcaacgtaCacaaccaccccgacatcgct	10	7	8	16	4	0	0	0	0	0	0	1	1	0	0	4	1	5	3	4	1	3	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr4:169342929C>T	ENST00000511577.1	-	17	2623	c.2376G>A	c.(2374-2376)gtG>gtA	p.V792V	DDX60L_ENST00000260184.7_Silent_p.V792V|DDX60L_ENST00000505890.1_Silent_p.V792V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	792	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTGCAACGTACACAACCACCC	0.473																																																	0													228	230	229					4																	169342929		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2376G>A	4.37:g.169342929C>T			Q96ND6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V792	ENST00000511577.1	37	c.2376		4																																																																																			DDX60L	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000181381		0.473	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	-	0	68	0	C	NM_001012967		169342929	-1	tier1	-	no_errors	ENST00000260184	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.856	T	T	169342929	C	T	169342929	2	4	11	1	0	0	0	0	0	0	0	1	4388	465	17	3		3	DDX60L	4	169342929	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	27762112	169342929	21811347	65	2933											
C1QTNF3	114899	genome.wustl.edu	37	chr5	34020796	34020796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcatcccctttggctagCttcagcacagcatgattgct	8	12	7	14	0	2	1	2	1	0	0	3	1	3	1	3	1	4	5	3	1	1	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:34020796C>A	ENST00000231338.7	-	6	720	c.633G>T	c.(631-633)aaG>aaT	p.K211N	RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.K195N|C1QTNF3_ENST00000513065.1_5'UTR|C1QTNF3_ENST00000382065.3_Missense_Mutation_p.K284N	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	211	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CTTTGGCTAGCTTCAGCACAG	0.473																																																	0													175	153	161					5																	34020796		2203	4300	6503	SO:0001583	missense	0			AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"cartonectin"	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.633G>T	5.37:g.34020796C>A	ENSP00000231338:p.Lys211Asn		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.K284N	ENST00000231338.7	37	c.852	CCDS3904.1	5	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613533	0.46631	.	.	ENSG00000082196	ENST00000382056;ENST00000382065;ENST00000231338	T;T	0.75704	-0.96;-0.96	5.62	1.31	0.21738	Tumour necrosis factor-like (2);Complement C1q protein (4);	.	.	.	.	T	0.56543	0.1992	N	0.11756	0.17	0.40720	D	0.982659	B;B	0.22211	0.066;0.006	B;B	0.34346	0.18;0.063	T	0.45205	-0.9277	9	0.37606	T	0.19	.	6.7573	0.23520	0.0:0.3654:0.0:0.6346	.	284;211	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	N	164;284;211	ENSP00000371497:K284N;ENSP00000231338:K211N	ENSP00000231338:K211N	K	-	3	2	C1QTNF3	34056553	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.089000	0.30890	0.340000	0.23745	-0.136000	0.14681	AAG	C1QTNF3	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000082196		0.473	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	C1QTNF3	HGNC	protein_coding	OTTHUMT00000207469.1	-	0	34	0	C	NM_030945		34020796	-1	tier1	-	no_errors	ENST00000382065	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	A	A	34020796	C	A	34020796	3	1	11	1	0	0	0	0	1	0	0	0	1971	796	28	3	111	3	C1QTNF3	5	34020796	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		34020796	146894464	66	2934											
MSH3	4437	genome.wustl.edu	37	chr5	79952246	79952246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggctacagaaattgacaGaagaaagaagagaccattgg	19	6	11	5	0	0	6	0	1	0	5	0	7	0	6	1	2	1	1	1	2	6	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:79952246G>T	ENST00000265081.6	+	2	334	c.254G>T	c.(253-255)aGa>aTa	p.R85I	DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	85	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAATTGACAGAAGAAAGAAG	0.393								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													121	127	125					5																	79952246		2203	4300	6503	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.254G>T	5.37:g.79952246G>T	ENSP00000265081:p.Arg85Ile		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.R85I	ENST00000265081.6	37	c.254	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792138	0.31685	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86627	-2.15	4.68	2.85	0.33270	.	1.400950	0.04436	N	0.370015	D	0.82692	0.5092	L	0.46157	1.445	0.09310	N	1	P	0.38642	0.641	B	0.36030	0.216	T	0.68368	-0.5427	9	.	.	.	-0.929	5.7683	0.18239	0.1015:0.0:0.7062:0.1923	.	85	P20585	MSH3_HUMAN	I	85;76	ENSP00000265081:R85I	.	R	+	2	0	MSH3	79988002	0.001000	0.12720	0.009000	0.14445	0.147000	0.21601	0.655000	0.24933	0.487000	0.27698	0.563000	0.77884	AGA	MSH3	-	NULL	ENSG00000113318		0.393	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	-	0	41	0	G	NM_002439		79952246	1	tier1	-	no_errors	ENST00000265081	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.002	T	T	79952246	G	T	79952246	3	4	11	1	0	0	0	0	1	0	0	0	9909	942	33	3	260	3	MSH3	5	79952246	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	45931450	79952246	100963014	67	2935											
VCAN	1462	genome.wustl.edu	37	chr5	82816505	82816505	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttggcccatggtactttaAgtgttgaagcagccactgta	9	14	10	8	0	0	1	0	1	0	0	0	1	0	1	2	2	3	4	2	2	4	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:82816505A>C	ENST00000265077.3	+	7	2945	c.2380A>C	c.(2380-2382)Agt>Cgt	p.S794R	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S746R|VCAN_ENST00000342785.4_Missense_Mutation_p.S794R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	794	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGGTACTTTAAGTGTTGAAGC	0.388																																																	0													79	78	79					5																	82816505		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2380A>C	5.37:g.82816505A>C	ENSP00000265077:p.Ser794Arg		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.S794R	ENST00000265077.3	37	c.2380	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	9.246	1.039495	0.19669	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.19669	2.13;2.13;2.13	5.86	-2.7	0.06004	.	1.146220	0.06217	N	0.686060	T	0.15652	0.0377	L	0.36672	1.1	0.09310	N	0.999996	B;P	0.34462	0.302;0.454	B;B	0.33620	0.167;0.115	T	0.35251	-0.9796	10	0.66056	D	0.02	.	6.0898	0.19989	0.2978:0.2926:0.4095:0.0	.	794;794	P13611-3;P13611	.;CSPG2_HUMAN	R	794;794;746	ENSP00000265077:S794R;ENSP00000342768:S794R;ENSP00000425959:S746R	ENSP00000265077:S794R	S	+	1	0	VCAN	82852261	0.002000	0.14202	0.007000	0.13788	0.023000	0.10783	0.179000	0.16840	-0.424000	0.07382	-0.408000	0.06270	AGT	VCAN	-	NULL	ENSG00000038427		0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	50	0	A	NM_004385		82816505	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	25.00	44	15	SNP	0.111	C	C	82816505	A	C	82816505	3	2	11	1	0	0	0	0	1	0	0	0	17187	72	3	4	2402	4	VCAN	5	82816505	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	2864259	82816505	98098755	68	2936											
RASA1	5921	genome.wustl.edu	37	chr5	86564473	86564474	+	Frame_Shift_Ins	INS	-	-	C																															tggcggagccgctttggggtINScagagttcctaggagccggg																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:86564473_86564474insC	ENST00000274376.6	+	1	769_770	c.205_206insC	c.(205-207)tcafs	p.S69fs	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	69					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CGCTTTGGGGTCAGAGTTCCTA	0.683																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.206dupC	5.37:g.86564474_86564474dupC	ENSP00000274376:p.Ser69fs		B2R6W3|Q9UDI1	Frame_Shift_Ins	INS	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.E70fs	ENST00000274376.6	37	c.205_206	CCDS34200.1	5																																																																																			RASA1	-	NULL	ENSG00000145715		0.683	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1		0	30	0	-	NM_002890		86564474	1	tier1		no_errors	ENST00000274376	ensembl	human	known	74_37	frame_shift_ins	30.23	30	13	INS	0.187:0.178	C	C	86564474	-	C	86564473	7	5	11	1	0	1	1	0	0	0	0	0	13105	1667	58	0	207	0	RASA1	5	86564473	Frame_Shift_Ins	INS	-	TCGA-2H-A9GQ-01A-11D-A37C-09	3747968	86564473	94350787	69	2937											
MEF2C	4208	genome.wustl.edu	37	chr5	88018583	88018583	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctcaagctgtcaacAggagatctccccgcctcgtg	8	8	10	15	2	3	1	2	0	1	1	5	2	3	1	3	1	4	3	3	1	2	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:88018583A>T	ENST00000437473.2	-	11	1677	c.1260T>A	c.(1258-1260)ccT>ccA	p.P420P	MEF2C_ENST00000340208.5_Silent_p.P430P|MEF2C_ENST00000514015.1_Silent_p.P388P|MEF2C_ENST00000514028.1_Silent_p.P420P|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000508569.1_Silent_p.P380P|MEF2C_ENST00000539796.1_Silent_p.P364P|MEF2C_ENST00000506554.1_Missense_Mutation_p.L396Q|MEF2C_ENST00000504921.2_Silent_p.P420P|MEF2C_ENST00000424173.2_Silent_p.P410P|MEF2C_ENST00000510942.1_Silent_p.P412P	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	420					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGCTGTCAACAGGAGATCTCC	0.577										HNSCC(66;0.2)																																							0													119	126	124					5																	88018583		2034	4196	6230	SO:0001819	synonymous_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1260T>A	5.37:g.88018583A>T			C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.L396Q	ENST00000437473.2	37	c.1187	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	A	11.72	1.721497	0.30503	.	.	ENSG00000081189	ENST00000506554	T	0.67345	-0.26	5.69	5.69	0.88448	.	.	.	.	.	T	0.79381	0.4436	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81920	-0.0712	6	0.87932	D	0	-5.1946	15.9216	0.79580	1.0:0.0:0.0:0.0	.	.	.	.	Q	396	ENSP00000425636:L396Q	ENSP00000425636:L396Q	L	-	2	0	MEF2C	88054339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.189000	0.42621	2.291000	0.77112	0.533000	0.62120	CTG	MEF2C	-	NULL	ENSG00000081189		0.577	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0	47	0	A	NM_002397		88018583	-1	tier1	-	no_errors	ENST00000506554	ensembl	human	putative	74_37	missense	40.38	31	21	SNP	1.000	T	T	88018583	A	T	88018583	2	4	11	1	0	0	0	0	0	0	0	1	9495	175	7	5		5	MEF2C	5	88018583	Silent	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	1454110	88018583	92896677	70	2938											
MEGF10	84466	genome.wustl.edu	37	chr5	126738367	126738367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcagtccaggatacacaGgggaacggtaagggatgccc	12	6	14	9	1	0	0	0	0	0	0	1	3	1	3	2	5	4	2	2	5	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:126738367G>T	ENST00000274473.6	+	9	1177	c.910G>T	c.(910-912)Ggg>Tgg	p.G304W	MEGF10_ENST00000418761.2_Missense_Mutation_p.G304W|MEGF10_ENST00000508365.1_Missense_Mutation_p.G304W|MEGF10_ENST00000503335.2_Missense_Mutation_p.G304W	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	304	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGGATACACAGGGGAACGGTA	0.488																																																	0													190	162	171					5																	126738367		2203	4300	6503	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.910G>T	5.37:g.126738367G>T	ENSP00000274473:p.Gly304Trp		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G304W	ENST00000274473.6	37	c.910	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526250	0.85600	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	5.75	5.75	0.90469	EGF, extracellular (1);EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.96558	0.8877	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98166	1.0449	10	0.87932	D	0	-11.7523	19.951	0.97199	0.0:0.0:1.0:0.0	.	304;304	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	W	304	ENSP00000423354:G304W;ENSP00000423195:G304W;ENSP00000416284:G304W;ENSP00000274473:G304W	ENSP00000274473:G304W	G	+	1	0	MEGF10	126766266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.645000	0.98471	2.723000	0.93209	0.650000	0.86243	GGG	MEGF10	-	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000145794		0.488	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	-	0	76	0	G	NM_032446		126738367	1	tier1	-	no_errors	ENST00000274473	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	126738367	G	T	126738367	3	4	11	1	0	0	0	0	1	0	0	0	9498	1000	35	3	936	3	MEGF10	5	126738367	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	38719784	126738367	54176893	71	2939											
PCDHGC3	5098	genome.wustl.edu	37	chr5	140856511	140856511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctggatgaaggccccaaCggtgaaattatttactcctt	11	12	9	9	1	1	2	0	2	1	0	2	4	2	3	3	3	2	0	3	3	5	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:140856511C>T	ENST00000308177.3	+	1	932	c.828C>T	c.(826-828)aaC>aaT	p.N276N	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	276	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGCCCCAACGGTGAAATTA	0.592																																																	0													46	52	50					5																	140856511		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.828C>T	5.37:g.140856511C>T			O60622|Q08192|Q9Y5C4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N276	ENST00000308177.3	37	c.828	CCDS4261.1	5																																																																																			PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240184		0.592	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	-	0	45	0	C	NM_002588		140856511	1	tier1	-	no_errors	ENST00000308177	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.709	T	T	140856511	C	T	140856511	2	4	11	1	0	0	0	0	0	0	0	1	11608	535	19	1		1	PCDHGC3	5	140856511	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	14118144	140856511	40058749	72	2940											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147012329	147012329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taaccggtgattttctgcctCctgtttttctatctaataaa	9	18	5	9	1	3	1	0	1	3	0	4	1	4	1	3	1	2	1	3	1	5	8			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:147012329C>G	ENST00000265272.5	-	13	2157	c.1690G>C	c.(1690-1692)Gag>Cag	p.E564Q	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E543Q|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E522Q	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	564						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCTGCCTCCTGTTTTTCT	0.403																																																	0													184	181	182					5																	147012329		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1690G>C	5.37:g.147012329C>G	ENSP00000265272:p.Glu564Gln		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.E564Q	ENST00000265272.5	37	c.1690	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770651	0.90108	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.28454	1.76;1.62;1.61	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.70487	0.969;0.969;0.969;0.969	T	0.39901	-0.9591	10	0.37606	T	0.19	.	19.891	0.96930	0.0:1.0:0.0:0.0	.	522;564;543;564	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	Q	543;564;522;543	ENSP00000421398:E543Q;ENSP00000265272:E564Q;ENSP00000328989:E522Q	ENSP00000265272:E564Q	E	-	1	0	JAKMIP2	146992522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.493000	0.66899	2.871000	0.98454	0.655000	0.94253	GAG	JAKMIP2	-	NULL	ENSG00000176049		0.403	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	83	0	C	NM_014790		147012329	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	36.84	48	28	SNP	1.000	G	G	147012329	C	G	147012329	3	3	11	1	0	0	0	0	1	0	0	0	7968	864	30	5	778	5	JAKMIP2	5	147012329	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	6155818	147012329	33902931	73	2941											
SH3TC2	79628	genome.wustl.edu	37	chr5	148407322	148407322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagagaggagctgcaggCgctcggcaaagggcaggacc	10	3	17	11	2	0	1	0	0	0	1	2	4	1	3	2	5	2	5	2	5	1	0	rs138040787		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:148407322C>T	ENST00000515425.1	-	11	2074	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	SH3TC2_ENST00000394358.2_Missense_Mutation_p.R543H|SH3TC2_ENST00000538184.1_Missense_Mutation_p.R205H|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R651H|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	658			R -> C (in CMT4C; heterozygous in one German patient with affected sibling). {ECO:0000269|PubMed:14574644}.		cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGCAGGCGCTCGGCAAA	0.617																																																	0								C	HIS/ARG	0,4406		0,0,2203	47	54	52		1973	6.2	1	5	dbSNP_134	52	3,8597	3.0+/-9.4	0,3,4297	yes	missense	SH3TC2	NM_024577.3	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	658/1289	148407322	3,13003	2203	4300	6503	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1973G>A	5.37:g.148407322C>T	ENSP00000423660:p.Arg658His		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.R658H	ENST00000515425.1	37	c.1973	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938799	0.52972	0.0	3.49E-4	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.16	6.16	0.99307	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.59459	0.2195	M	0.67700	2.07	0.54753	D	0.999983	P;D;D;D	0.58268	0.896;0.982;0.982;0.982	B;B;B;B	0.41571	0.189;0.36;0.36;0.36	T	0.62817	-0.6774	10	0.44086	T	0.13	-17.8698	11.6865	0.51490	0.0:0.8957:0.0:0.1043	.	543;651;658;658	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	H	205;658;651;543	ENSP00000441427:R205H;ENSP00000423660:R658H;ENSP00000421860:R651H;ENSP00000377886:R543H	ENSP00000377886:R543H	R	-	2	0	SH3TC2	148387515	0.996000	0.38824	0.985000	0.45067	0.827000	0.46813	3.263000	0.51546	2.937000	0.99478	0.650000	0.86243	CGC	SH3TC2	-	NULL	ENSG00000169247		0.617	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	-	0	42	0	C	NM_024577		148407322	-1	tier1	rs138040787	no_errors	ENST00000515425	ensembl	human	known	74_37	missense	41.18	20	14	SNP	0.998	T	T	148407322	C	T	148407322	3	4	11	1	0	0	0	0	1	0	0	0	14307	768	27	1	1921	1	SH3TC2	5	148407322	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	1394993	148407322	32507938	74	2942											
PPARGC1B	133522	genome.wustl.edu	37	chr5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-																															gaggaggaagaggaagaaggGgaggaggaggaggaggacga																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																																	0																																										SO:0001651	inframe_deletion	0			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E817in_frame_del	ENST00000309241.5	37	c.2439_2441	CCDS4298.1	5																																																																																			PPARGC1B	-	NULL	ENSG00000155846		0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1		0	30	0	GGA	NM_133263		149216459	1	tier1		no_errors	ENST00000309241	ensembl	human	known	74_37	in_frame_del	10.00	18	2	DEL	0.792:0.855:0.852	-	-	149216459	GGA	-	149216457	7	5	11	1	0	1	0	1	0	0	0	0	12340	1219	43	0	2476	0	PPARGC1B	5	149216457	In_Frame_Del	DEL	GGA	TCGA-2H-A9GQ-01A-11D-A37C-09	809135	149216457	31698803	75	2943											
PANK3	79646	genome.wustl.edu	37	chr5	167993037	167993037	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtcccagtcactcgttTatagttgtctttggaatgga	7	16	9	9	1	2	0	1	0	1	0	4	2	3	2	2	2	0	2	2	2	3	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr5:167993037T>C	ENST00000239231.6	-	3	932	c.616A>G	c.(616-618)Aaa>Gaa	p.K206E	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	206					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GTCACTCGTTTATAGTTGTCT	0.378																																																	0													154	140	145					5																	167993037		2203	4300	6503	SO:0001583	missense	0			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.616A>G	5.37:g.167993037T>C	ENSP00000239231:p.Lys206Glu		D3DQL1|Q53FJ9|Q7RTX4	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.K206E	ENST00000239231.6	37	c.616	CCDS4368.1	5	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303688	0.40795	.	.	ENSG00000120137	ENST00000239231	D	0.99511	-6.05	4.94	4.94	0.65067	.	0.095522	0.85682	D	0.000000	D	0.96836	0.8967	N	0.17631	0.505	0.54753	D	0.999986	B	0.13594	0.008	B	0.13407	0.009	D	0.95460	0.8542	10	0.02654	T	1	-3.7162	13.8245	0.63342	0.0:0.0:0.0:1.0	.	206	Q9H999	PANK3_HUMAN	E	206	ENSP00000239231:K206E	ENSP00000239231:K206E	K	-	1	0	PANK3	167925615	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.040000	0.89188	1.843000	0.53566	0.472000	0.43445	AAA	PANK3	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000120137		0.378	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK3	HGNC	protein_coding	OTTHUMT00000252793.2	-	0	53	0	T	NM_024594		167993037	-1	tier1	-	no_errors	ENST00000239231	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C	C	167993037	T	C	167993037	3	2	11	1	0	0	0	0	1	0	0	0	11457	1763	61	4	516	4	PANK3	5	167993037	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	18776580	167993037	12922223	76	2944											
RREB1	6239	genome.wustl.edu	37	chr6	7230282	7230282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgcttctgcaaccaGgtgtttgccttctcgggggt	3	12	12	14	2	2	0	0	0	2	0	3	0	2	0	4	3	4	3	4	3	1	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:7230282G>T	ENST00000349384.6	+	10	2264	c.1950G>T	c.(1948-1950)caG>caT	p.Q650H	RREB1_ENST00000379933.3_Missense_Mutation_p.Q650H|RREB1_ENST00000334984.6_Missense_Mutation_p.Q650H|RREB1_ENST00000379938.2_Missense_Mutation_p.Q650H	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	650					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCTGCAACCAGGTGTTTGCCT	0.632																																																	0													36	35	35					6																	7230282		2203	4300	6503	SO:0001583	missense	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1950G>T	6.37:g.7230282G>T	ENSP00000305560:p.Gln650His		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q650H	ENST00000349384.6	37	c.1950	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002664	0.54254	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44	5.27	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000027	T	0.22244	0.0536	L	0.33339	1.005	0.46241	D	0.998945	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.83275	0.996;0.99;0.988	T	0.01045	-1.1470	10	0.87932	D	0	-53.4314	14.4798	0.67573	0.0807:0.0:0.9193:0.0	.	650;650;650	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	H	650	ENSP00000369265:Q650H;ENSP00000369270:Q650H;ENSP00000305560:Q650H;ENSP00000335574:Q650H;ENSP00000419511:Q650H	ENSP00000335574:Q650H	Q	+	3	2	RREB1	7175281	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.213000	0.42844	2.735000	0.93741	0.655000	0.94253	CAG	RREB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124782		0.632	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	-	0	80	0	G			7230282	1	tier1	-	no_errors	ENST00000379938	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T	T	7230282	G	T	7230282	3	4	11	1	0	0	0	0	1	0	0	0	13724	991	35	3	1976	3	RREB1	6	7230282	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		7230282	163884785	77	2945											
PAK1IP1	55003	genome.wustl.edu	37	chr6	10697578	10697578	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggactcttgtggctgacTtcactcaccatgctcacact	9	12	7	13	0	4	1	3	1	1	0	4	2	4	2	1	2	1	2	1	2	1	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:10697578T>G	ENST00000379568.3	+	2	397	c.106T>G	c.(106-108)Ttc>Gtc	p.F36V	C6orf52_ENST00000467832.2_5'Flank|C6orf52_ENST00000259983.3_5'Flank|C6orf52_ENST00000460742.2_5'Flank|C6orf52_ENST00000503680.1_5'Flank|C6orf52_ENST00000379586.1_5'Flank	NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	36					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGTGGCTGACTTCACTCACCA	0.423																																																	0													218	223	221					6																	10697578		2203	4300	6503	SO:0001583	missense	0			AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"WD repeat domain containing"	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.106T>G	6.37:g.10697578T>G	ENSP00000368887:p.Phe36Val		Q5T4J2|Q96QJ8|Q96T87	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F36V	ENST00000379568.3	37	c.106	CCDS34339.1	6	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565638	0.86439	.	.	ENSG00000111845	ENST00000379568	T	0.60797	0.16	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81250	-0.1018	10	0.72032	D	0.01	-12.8723	13.2287	0.59929	0.0:0.0:0.0:1.0	.	36	Q9NWT1	PK1IP_HUMAN	V	36	ENSP00000368887:F36V	ENSP00000368887:F36V	F	+	1	0	PAK1IP1	10805564	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.567000	0.82357	2.066000	0.61787	0.528000	0.53228	TTC	PAK1IP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000111845		0.423	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK1IP1	HGNC	protein_coding	OTTHUMT00000039835.1	-	0	29	0	T	NM_017906		10697578	1	tier1	-	no_errors	ENST00000379568	ensembl	human	known	74_37	missense	46.51	23	20	SNP	1.000	G	G	10697578	T	G	10697578	3	3	11	1	0	0	0	0	1	0	0	0	11439	1609	56	4	112	4	PAK1IP1	6	10697578	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	3467296	10697578	160417489	78	2946											
ERVFRDE1	405754	genome.wustl.edu	37	chr6	11104020	11104020	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcgagaggagacaaattgGgttattagatttaggagaca	15	9	14	3	1	0	4	0	0	0	4	0	7	0	4	0	4	0	1	0	4	4	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:11104020G>C	ENST00000472091.1	-	2	1899	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Silent_p.T508T	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	508					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						agacaaattgggttattagat	0.473																																																	0													38	36	36					6																	11104020		1758	3202	4960	SO:0001819	synonymous_variant	0			AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.1524C>G	6.37:g.11104020G>C				Silent	SNP	pfam_TLV/ENV_coat_polyprotein	p.T508	ENST00000472091.1	37	c.1524	CCDS4519.1	6																																																																																			ERVFRD-1	-	pfam_TLV/ENV_coat_polyprotein	ENSG00000244476		0.473	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVFRD-1	HGNC	protein_coding	OTTHUMT00000353776.1	-	0	49	0	G	NM_207582		11104020	-1	tier1	-	no_errors	ENST00000472091	ensembl	human	known	74_37	silent	19.44	86	21	SNP	0.344	C	C	11104020	G	C	11104020	2	2	11	1	0	0	0	0	0	0	0	1	5262	1219	43	5		5	ERVFRDE1	6	11104020	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	406442	11104020	160011047	79	2947											
HIST1H4E	8367	genome.wustl.edu	37	chr6	26205150	26205150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggtctacgcgctgaagaGacagggacgcactctttacg	9	9	13	10	4	2	2	0	1	2	1	2	4	2	3	0	2	2	2	0	2	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:26205150G>C	ENST00000360441.4	+	1	293	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R93T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCGCTGAAGAGACAGGGACGC	0.537																																																	1	Substitution - Missense(1)	lung(1)											129	111	117					6																	26205150		2203	4300	6503	SO:0001583	missense	0			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.278G>C	6.37:g.26205150G>C	ENSP00000353624:p.Arg93Thr		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R93T	ENST00000360441.4	37	c.278	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	15.29	2.790267	0.50102	.	.	ENSG00000198518	ENST00000360441	T	0.68624	-0.34	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68016	0.2955	.	.	.	0.48632	D	0.999683	.	.	.	.	.	.	T	0.73783	-0.3874	7	0.72032	D	0.01	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	T	93	ENSP00000353624:R93T	ENSP00000353624:R93T	R	+	2	0	HIST1H4E	26313129	1.000000	0.71417	0.692000	0.30179	0.004000	0.04260	9.201000	0.95017	1.521000	0.48983	0.655000	0.94253	AGA	HIST1H4E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198518		0.537	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	-	0	69	0	G	NM_003545		26205150	1	tier1	-	no_errors	ENST00000360441	ensembl	human	known	74_37	missense	21.51	73	20	SNP	1.000	C	C	26205150	G	C	26205150	3	2	11	1	0	0	0	0	1	0	0	0	7196	942	33	5	280	5	HIST1H4E	6	26205150	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	15101130	26205150	144909917	80	2948											
SLC39A7	7922	genome.wustl.edu	37	chr6	33170809	33170809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgaccacaatgactGtcctgctacatgaagtgccc	10	9	9	13	0	0	3	0	3	0	0	2	4	2	4	4	1	3	1	4	1	3	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:33170809G>A	ENST00000374677.3	+	6	1436	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.V355I|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000374685.4_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	355					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACAATGACTGTCCTGCTACA	0.557																																																	0													222	255	244					6																	33170809		1387	2611	3998	SO:0001583	missense	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1063G>A	6.37:g.33170809G>A	ENSP00000363809:p.Val355Ile		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.V355I	ENST00000374677.3	37	c.1063	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312431	0.23908	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.52295	0.67;0.67	5.02	5.02	0.67125	.	0.064056	0.64402	D	0.000009	T	0.14657	0.0354	N	0.03115	-0.41	0.42425	D	0.992658	P;P	0.45634	0.699;0.863	P;P	0.51415	0.557;0.669	T	0.25047	-1.0143	10	0.02654	T	1	-15.5483	9.2857	0.37755	0.0956:0.0:0.9044:0.0	.	336;355	B4DVK8;Q92504	.;S39A7_HUMAN	I	355;336;260;355	ENSP00000363807:V355I;ENSP00000363809:V355I	ENSP00000363807:V355I	V	+	1	0	SLC39A7	33278787	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.646000	0.67916	2.603000	0.88011	0.448000	0.29417	GTC	SLC39A7	-	pfam_ZIP	ENSG00000112473		0.557	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	-	0	61	0	G	NM_006979		33170809	1	tier1	-	no_errors	ENST00000374675	ensembl	human	known	74_37	missense	21.30	85	23	SNP	1.000	A	A	33170809	G	A	33170809	3	1	11	1	0	0	0	0	1	0	0	0	14668	1377	48	3	1085	3	SLC39A7	6	33170809	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	6965659	33170809	137944258	81	2949											
CLPS	1208	genome.wustl.edu	37	chr6	35763554	35763554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatggatgtgcagcggGccaggcccagcgcacttgaa	8	6	15	12	2	0	1	0	1	0	0	0	2	0	2	3	4	3	2	3	4	1	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:35763554G>A	ENST00000259938.2	-	2	183	c.161C>T	c.(160-162)gCc>gTc	p.A54V		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	54					lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme activator activity (GO:0008047)			large_intestine(2)|lung(2)|prostate(1)	5						TGTGCAGCGGGCCAGGCCCAG	0.617																																					Melanoma(167;2962 3494 37796)												0													106	96	99					6																	35763554		2203	4300	6503	SO:0001583	missense	0				CCDS4811.1, CCDS75437.1, CCDS75438.1	6p21.31	2012-02-06			ENSG00000137392	ENSG00000137392			2085	protein-coding gene	gene with protein product		120105				2045105	Standard	NM_001832		Approved		uc003ole.2	P04118	OTTHUMG00000014578	ENST00000259938.2:c.161C>T	6.37:g.35763554G>A	ENSP00000259938:p.Ala54Val		Q5T9G7|Q5U809	Missense_Mutation	SNP	pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase	p.A54V	ENST00000259938.2	37	c.161	CCDS4811.1	6	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749924	0.69533	.	.	ENSG00000137392	ENST00000259938	T	0.36699	1.24	4.96	4.96	0.65561	Colipase, N-terminal (1);	0.000000	0.64402	D	0.000016	T	0.48857	0.1523	M	0.72118	2.19	0.43994	D	0.996696	D	0.63880	0.993	D	0.63192	0.912	T	0.49000	-0.8984	10	0.54805	T	0.06	-25.0969	15.513	0.75798	0.0:0.0:1.0:0.0	.	54	P04118	COL_HUMAN	V	54	ENSP00000259938:A54V	ENSP00000259938:A54V	A	-	2	0	CLPS	35871532	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	6.184000	0.72008	2.584000	0.87258	0.561000	0.74099	GCC	CLPS	-	pfam_Colipase_N,smart_Colipase,prints_Colipase	ENSG00000137392		0.617	CLPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPS	HGNC	protein_coding	OTTHUMT00000040312.1	-	0	54	0	G	NM_001832		35763554	-1	tier1	-	no_errors	ENST00000259938	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	35763554	G	A	35763554	3	1	11	1	0	0	0	0	1	0	0	0	3560	1203	42	3	185	3	CLPS	6	35763554	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2592745	35763554	135351513	82	2950											
DNAH8	1769	genome.wustl.edu	37	chr6	38704935	38704935	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaccagctgttcttgcAacaaacaactggggtgcttt	9	14	8	10	0	2	0	0	0	2	0	2	0	2	0	1	2	7	4	1	2	4	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:38704935A>G	ENST00000359357.3	+	4	458	c.204A>G	c.(202-204)gcA>gcG	p.A68A	DNAH8_ENST00000441566.1_Silent_p.A68A|DNAH8_ENST00000449981.2_Silent_p.A285A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	68					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTGTTCTTGCAACAAACAACT	0.388																																																	0													99	101	100					6																	38704935		2203	4300	6503	SO:0001819	synonymous_variant	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.204A>G	6.37:g.38704935A>G			O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A68	ENST00000359357.3	37	c.204		6																																																																																			DNAH8	-	NULL	ENSG00000124721		0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1		0	35	0	A	NM_001206927		38704935	1			no_errors	ENST00000359357	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.991	G	G	38704935	A	G	38704935	2	3	11	1	0	0	0	0	0	0	0	1	4621	117	5	4		4	DNAH8	6	38704935	Silent	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	2941381	38704935	132410132	83	2951											
PEX6	5190	genome.wustl.edu	37	chr6	42933038	42933038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagatctggtctgttggtgGctccaatcacaaacacatcc	10	10	10	11	0	3	1	1	0	2	1	5	2	5	1	2	4	1	2	2	4	2	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:42933038G>T	ENST00000304611.8	-	14	2609	c.2540C>A	c.(2539-2541)gCc>gAc	p.A847D	PEX6_ENST00000244546.4_3'UTR	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	847					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCTGTTGGTGGCTCCAATCAC	0.587																																																	0													107	80	89					6																	42933038		2203	4300	6503	SO:0001583	missense	0			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"ATPases / AAA-type"	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.2540C>A	6.37:g.42933038G>T	ENSP00000303511:p.Ala847Asp		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A847D	ENST00000304611.8	37	c.2540	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.398673	0.96030	.	.	ENSG00000124587	ENST00000304611	D	0.96041	-3.89	5.84	5.84	0.93424	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99232	1.0882	10	0.87932	D	0	-23.3945	19.7683	0.96352	0.0:0.0:1.0:0.0	.	847	Q13608	PEX6_HUMAN	D	847	ENSP00000303511:A847D	ENSP00000303511:A847D	A	-	2	0	PEX6	43041016	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.605000	0.98321	2.767000	0.95098	0.555000	0.69702	GCC	PEX6	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000124587		0.587	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1		0	23	0	G	NM_000287		42933038	-1			no_errors	ENST00000304611	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	42933038	G	T	42933038	3	4	11	1	0	0	0	0	1	0	0	0	11789	1203	42	3	418	3	PEX6	6	42933038	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	4228103	42933038	128182029	84	2952											
KLHDC3	116138	genome.wustl.edu	37	chr6	42986163	42986163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgggggccgtgccgaccGctttgggccattccattcca	4	11	12	14	3	0	0	0	0	0	0	2	1	2	0	6	3	1	1	6	3	0	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:42986163G>A	ENST00000326974.4	+	6	797	c.602G>A	c.(601-603)cGc>cAc	p.R201H	KLHDC3_ENST00000332245.8_Missense_Mutation_p.R142H|KLHDC3_ENST00000244670.8_Missense_Mutation_p.R67H	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	201					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CGTGCCGACCGCTTTGGGCCA	0.577																																																	0													66	61	63					6																	42986163		2203	4300	6503	SO:0001583	missense	0			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.602G>A	6.37:g.42986163G>A	ENSP00000313995:p.Arg201His		A8K2W9	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.R201H	ENST00000326974.4	37	c.602	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873578	0.72180	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.16196	3.18;2.36;3.18	5.64	4.77	0.60923	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	L	0.33485	1.01	0.80722	D	1	P;D;D;D	0.89917	0.456;1.0;1.0;1.0	B;D;D;D	0.69479	0.111;0.964;0.949;0.952	T	0.01982	-1.1235	10	0.42905	T	0.14	.	14.4033	0.67065	0.0709:0.0:0.9291:0.0	.	201;142;67;201	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	H	201;201;67;201;174;142	ENSP00000313995:R201H;ENSP00000244670:R67H;ENSP00000331562:R142H	ENSP00000244670:R67H	R	+	2	0	KLHDC3	43094141	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.102000	0.94226	1.394000	0.46624	0.561000	0.74099	CGC	KLHDC3	-	pfam_Kelch_2,pfam_Kelch_1	ENSG00000124702		0.577	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	HGNC	protein_coding	OTTHUMT00000040570.1		0	39	0	G	NM_057161		42986163	1			no_errors	ENST00000326974	ensembl	human	known	74_37	missense	5.56	50	3	SNP	1.000	A	A	42986163	G	A	42986163	3	1	11	1	0	0	0	0	1	0	0	0	8384	1087	38	1	620	1	KLHDC3	6	42986163	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	53125	42986163	128128904	85	2953											
DST	667	genome.wustl.edu	37	chr6	56490035	56490035	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaatctaccatggcccGgtaggtcattgtttgtaatt	8	16	10	7	1	2	1	1	1	1	0	2	1	2	1	2	3	1	3	2	3	4	7	rs200735287		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:56490035G>T	ENST00000361203.3	-	31	4124	c.4117C>A	c.(4117-4119)Cgg>Agg	p.R1373R	DST_ENST00000370765.6_Silent_p.R1047R|DST_ENST00000244364.6_Silent_p.R1047R|DST_ENST00000446842.2_Silent_p.R1047R|DST_ENST00000518935.1_Silent_p.R1047R|DST_ENST00000421834.2_Silent_p.R1373R|DST_ENST00000370769.4_Silent_p.R1373R|DST_ENST00000370754.5_Silent_p.R1551R|DST_ENST00000312431.6_Silent_p.R1373R|DST_ENST00000370788.2_Silent_p.R1373R			Q03001	DYST_HUMAN	dystonin	1373					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCATGGCCCGGTAGGTCATT	0.343																																																	0													140	142	141					6																	56490035		2203	4300	6503	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4117C>A	6.37:g.56490035G>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R1551	ENST00000361203.3	37	c.4651		6																																																																																			DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	112	0	G	NM_001723		56490035	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	T	T	56490035	G	T	56490035	2	4	11	1	0	0	0	0	0	0	0	1	4797	1115	39	2		2	DST	6	56490035	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	13503872	56490035	114625032	86	2954											
FUT9	10690	genome.wustl.edu	37	chr6	96651269	96651269	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggcagacctttgaccttAcatcctgccaagcaatgttc	9	12	8	12	0	0	2	0	1	0	1	2	2	1	2	4	1	3	3	4	1	3	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:96651269A>T	ENST00000302103.5	+	3	564	c.238A>T	c.(238-240)Aca>Tca	p.T80S		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	80					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTTTGACCTTACATCCTGCCA	0.428																																					Melanoma(98;1369 1476 6592 22940 26587)												0													148	130	136					6																	96651269		2203	4300	6503	SO:0001583	missense	0			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.238A>T	6.37:g.96651269A>T	ENSP00000302599:p.Thr80Ser		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.T80S	ENST00000302103.5	37	c.238	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	A	4.461	0.085313	0.08583	.	.	ENSG00000172461	ENST00000302103	T	0.21734	1.99	5.27	4.03	0.46877	.	0.275476	0.41396	D	0.000886	T	0.01558	0.0050	N	0.00864	-1.135	0.29499	N	0.855074	B	0.02656	0.0	B	0.04013	0.001	T	0.43523	-0.9386	10	0.05525	T	0.97	-11.8877	11.2786	0.49181	0.8639:0.0:0.0:0.1361	.	80	Q9Y231	FUT9_HUMAN	S	80	ENSP00000302599:T80S	ENSP00000302599:T80S	T	+	1	0	FUT9	96757990	0.226000	0.23696	0.999000	0.59377	0.994000	0.84299	3.437000	0.52863	2.115000	0.64714	0.533000	0.62120	ACA	FUT9	-	pfam_Glyco_trans_10	ENSG00000172461		0.428	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	-	0	50	0	A	NM_006581		96651269	1	tier1	-	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.997	T	T	96651269	A	T	96651269	3	4	11	1	0	0	0	0	1	0	0	0	6135	391	14	5	240	5	FUT9	6	96651269	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	40161234	96651269	74463798	87	2955											
COL10A1	1300	genome.wustl.edu	37	chr6	116442374	116442374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccttcaggcctggcaagCctggtttcccaaagccagga	8	8	10	15	0	1	0	1	0	0	0	3	1	3	1	5	4	2	2	5	4	2	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:116442374C>T	ENST00000327673.4	-	2	1312	c.905G>A	c.(904-906)gGc>gAc	p.G302D	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Missense_Mutation_p.P10S|COL10A1_ENST00000243222.4_Missense_Mutation_p.G302D			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	302	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)	p.G302D(1)		central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GCCTGGCAAGCCTGGTTTCCC	0.642																																																	1	Substitution - Missense(1)	lung(1)											28	32	31					6																	116442374		2191	4290	6481	SO:0001583	missense	0				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.905G>A	6.37:g.116442374C>T	ENSP00000327368:p.Gly302Asp		A1L4P2	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G302D	ENST00000327673.4	37	c.905	CCDS5105.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.91|17.91	3.504811|3.504811	0.64410|0.64410	.|.	.|.	ENSG00000123500|ENSG00000234188	ENST00000243222;ENST00000327673|ENST00000430695	D;D|.	0.99619|.	-6.28;-6.28|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90728|0.90728	0.7090|0.7090	H|H	0.98866|0.98866	4.355|4.355	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.93721|0.93721	0.7033|0.7033	10|6	0.72032|0.87932	D|D	0.01|0	.|.	19.3787|19.3787	0.94523|0.94523	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	302|.	Q03692|.	COAA1_HUMAN|.	D|S	302|10	ENSP00000243222:G302D;ENSP00000327368:G302D|.	ENSP00000243222:G302D|ENSP00000415795:P10S	G|P	-|+	2|1	0|0	COL10A1|AL121963.1	116549067|116549067	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.972000|0.972000	0.66771|0.66771	7.609000|7.609000	0.82925|0.82925	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGC|CCT	COL10A1	-	NULL	ENSG00000123500		0.642	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	HGNC	protein_coding	OTTHUMT00000041926.1		0	23	0	C			116442374	-1			no_errors	ENST00000243222	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	116442374	C	T	116442374	3	4	11	1	0	0	0	0	1	0	0	0	3673	739	26	3	1141	3	COL10A1	6	116442374	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	19791105	116442374	54672693	88	2956											
KIAA1244	57221	genome.wustl.edu	37	chr6	138657565	138657565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaccgacatcagagttcGccaggctgtgagggagtggc	8	7	16	10	3	1	3	1	2	0	1	2	5	1	4	2	3	0	2	2	3	0	1	rs111914596		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:138657565G>A	ENST00000251691.4	+	34	6642	c.6476G>A	c.(6475-6477)cGc>cAc	p.R2159H		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ATCAGAGTTCGCCAGGCTGTG	0.572																																																	0								G	HIS/ARG	0,4406		0,0,2203	112	99	104		6476	6	1	6	dbSNP_132	104	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1244	NM_020340.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2159/2178	138657565	1,13005	2203	4300	6503	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6476G>A	6.37:g.138657565G>A	ENSP00000251691:p.Arg2159His			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.R2159H	ENST00000251691.4	37	c.6476	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	37	6.015395	0.97205	0.0	1.16E-4	ENSG00000112379	ENST00000251691;ENST00000367706	T	0.54675	0.56	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61676	-0.7014	10	0.87932	D	0	-34.9816	20.5407	0.99260	0.0:0.0:1.0:0.0	.	2159	Q5TH69	BIG3_HUMAN	H	2159;200	ENSP00000251691:R2159H	ENSP00000251691:R2159H	R	+	2	0	KIAA1244	138699258	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.865000	0.98341	0.655000	0.94253	CGC	KIAA1244	-	NULL	ENSG00000112379		0.572	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0	50	0	G	NM_020340		138657565	1	tier1	rs111914596	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	54.00	23	27	SNP	1.000	A	A	138657565	G	A	138657565	3	1	11	1	0	0	0	0	1	0	0	0	8244	1087	38	1	6610	1	KIAA1244	6	138657565	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	22215191	138657565	32457502	89	2957											
SYNE1	23345	genome.wustl.edu	37	chr6	152746668	152746668	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgaggcctgggatacaacTtcattttgcagtgcctgaaa	12	11	10	8	0	1	2	1	2	0	0	1	3	1	3	2	2	4	1	2	2	4	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:152746668T>C	ENST00000367255.5	-	39	5716	c.5115A>G	c.(5113-5115)gaA>gaG	p.E1705E	SYNE1_ENST00000423061.1_Silent_p.E1712E|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Silent_p.E1705E|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1705					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGATACAACTTCATTTTGCA	0.413										HNSCC(10;0.0054)																																							0													90	86	87					6																	152746668		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5115A>G	6.37:g.152746668T>C			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	-	e38-2	ENST00000367255.5	37	c.5138-2	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	9.383	1.073476	0.20147	.	.	ENSG00000131018	ENST00000448038	.	.	.	5.72	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4905	0.16773	0.1642:0.1649:0.0:0.6709	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152788361	0.034000	0.19679	0.556000	0.28293	0.250000	0.25880	0.101000	0.15251	1.012000	0.39366	0.523000	0.50628	.	SYNE1	-	-	ENSG00000131018		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	59	0	T	NM_182961		152746668	-1	tier1	-	no_errors	ENST00000448038	ensembl	human	known	74_37	splice_site	57.14	30	40	SNP	0.607	C	C	152746668	T	C	152746668	2	2	11	1	0	0	0	0	0	0	0	1	15492	1606	56	4		4	SYNE1	6	152746668	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	14089103	152746668	18368399	90	2958											
SYNE1	23345	genome.wustl.edu	37	chr6	152751730	152751730	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatcttcttatttgtgtcaActtggctttaattcgagcag	8	18	8	7	1	3	0	1	0	2	0	4	1	3	0	0	1	2	3	0	1	4	8			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:152751730A>C	ENST00000367255.5	-	35	5177	c.4576T>G	c.(4576-4578)Ttg>Gtg	p.L1526V	SYNE1_ENST00000367253.4_Missense_Mutation_p.L1526V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1533V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1596V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L1526V|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1533V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1526					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTGTGTCAACTTGGCTTTA	0.423										HNSCC(10;0.0054)																																							0													165	164	164					6																	152751730		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4576T>G	6.37:g.152751730A>C	ENSP00000356224:p.Leu1526Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1526V	ENST00000367255.5	37	c.4576	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920124	0.52653	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.56103	1.04;1.04;1.04;1.04;0.48;1.04	5.66	-0.995	0.10222	.	0.000000	0.48767	D	0.000173	T	0.47801	0.1465	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.69078	0.966;0.997;0.98;0.997;0.997	P;P;P;P;P	0.61722	0.583;0.746;0.701;0.746;0.893	T	0.52426	-0.8577	10	0.72032	D	0.01	.	7.5727	0.27918	0.3964:0.0:0.4792:0.1243	.	1509;1526;1526;1526;1533	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1526;1533;1526;1533;1596;1526	ENSP00000356224:L1526V;ENSP00000396024:L1533V;ENSP00000265368:L1526V;ENSP00000390975:L1533V;ENSP00000341887:L1596V;ENSP00000356222:L1526V	ENSP00000265368:L1526V	L	-	1	2	SYNE1	152793423	0.991000	0.36638	0.991000	0.47740	0.989000	0.77384	0.217000	0.17603	-0.307000	0.08804	-0.274000	0.10170	TTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	44	0	A	NM_182961		152751730	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	17.24	47	10	SNP	0.990	C	C	152751730	A	C	152751730	3	2	11	1	0	0	0	0	1	0	0	0	15492	40	2	4	22338	4	SYNE1	6	152751730	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	5062	152751730	18363337	91	2959											
LPA	4018	genome.wustl.edu	37	chr6	160953585	160953585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaactgtcagtgcctctgGccaaatgctcagcacaaata	12	8	9	12	0	3	0	2	0	1	0	3	0	3	0	2	2	4	3	2	2	4	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr6:160953585G>A	ENST00000316300.5	-	38	5983	c.5939C>T	c.(5938-5940)gCc>gTc	p.A1980V	LPA_ENST00000447678.1_Missense_Mutation_p.A1980V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4488	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTGCCTCTGGCCAAATGCTC	0.468																																																	0													79	81	80					6																	160953585		2156	4282	6438	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5939C>T	6.37:g.160953585G>A	ENSP00000321334:p.Ala1980Val		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.A1980V	ENST00000316300.5	37	c.5939	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	5.145	0.212399	0.09757	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.81579	-1.51;-1.51	1.93	-1.3	0.09259	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.45994	0.1370	L	0.33485	1.01	0.09310	N	1	B	0.32425	0.371	B	0.37692	0.256	T	0.44081	-0.9351	9	0.27082	T	0.32	.	0.1396	0.00082	0.2679:0.1644:0.2713:0.2964	.	4488	P08519	APOA_HUMAN	V	1980	ENSP00000321334:A1980V;ENSP00000395608:A1980V	ENSP00000321334:A1980V	A	-	2	0	LPA	160873575	0.001000	0.12720	0.001000	0.08648	0.059000	0.15707	0.603000	0.24149	-0.371000	0.08004	0.184000	0.17185	GCC	LPA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000198670		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	54	0	G	NM_005577		160953585	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.023	A	A	160953585	G	A	160953585	3	1	11	1	0	0	0	0	1	0	0	0	8938	1203	42	3	191	3	LPA	6	160953585	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	8201855	160953585	10161482	92	2960											
AEBP1	165	genome.wustl.edu	37	chr7	44153807	44153807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagatagccactggccagGcattccccttcacaacagta	12	7	9	13	0	1	1	1	0	0	1	2	2	2	1	4	3	2	2	4	3	3	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:44153807G>A	ENST00000223357.3	+	21	3729	c.3424G>A	c.(3424-3426)Gca>Aca	p.A1142T	AEBP1_ENST00000450684.2_Missense_Mutation_p.A717T	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1142	Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CACTGGCCAGGCATTCCCCTT	0.542																																																	0													104	99	101					7																	44153807		2203	4300	6503	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3424G>A	7.37:g.44153807G>A	ENSP00000223357:p.Ala1142Thr		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.A1142T	ENST00000223357.3	37	c.3424	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395077	0.62066	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	D;D	0.95205	-3.64;-3.1	5.08	2.06	0.26882	.	.	.	.	.	D	0.84665	0.5522	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.68981	-0.5266	9	0.07990	T	0.79	-0.3401	6.8838	0.24189	0.156:0.1482:0.6958:0.0	.	717;1142	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	T	1142;717	ENSP00000223357:A1142T;ENSP00000398878:A717T	ENSP00000223357:A1142T	A	+	1	0	AEBP1	44120332	0.001000	0.12720	0.000000	0.03702	0.894000	0.52154	0.559000	0.23485	0.103000	0.17682	0.462000	0.41574	GCA	AEBP1	-	NULL	ENSG00000106624		0.542	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0	31	0	G	NM_001129		44153807	1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.001	A	A	44153807	G	A	44153807	3	1	11	1	0	0	0	0	1	0	0	0	349	1203	42	3	3506	3	AEBP1	7	44153807	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		44153807	114984856	93	2961											
NPC1L1	29881	genome.wustl.edu	37	chr7	44555412	44555412	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcacccacgtagctGaggatgacgggcaggaagac	11	4	15	11	2	1	3	1	2	0	1	1	5	1	5	1	4	1	4	1	4	2	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:44555412G>T	ENST00000289547.4	-	19	3922	c.3867C>A	c.(3865-3867)ctC>ctA	p.L1289L	NPC1L1_ENST00000546276.1_Silent_p.L1216L|NPC1L1_ENST00000381160.3_Silent_p.L1262L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1289					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.L1289L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACGTAGCTGAGGATGACGG	0.547																																																	2	Substitution - coding silent(2)	cervix(1)|lung(1)											80	77	78					7																	44555412		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3867C>A	7.37:g.44555412G>T			A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	pfam_Patched,pfscan_SSD	p.L1289	ENST00000289547.4	37	c.3867	CCDS5491.1	7																																																																																			NPC1L1	-	pfam_Patched	ENSG00000015520		0.547	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1		0	25	0	G	NM_013389		44555412	-1			no_errors	ENST00000289547	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.998	T	T	44555412	G	T	44555412	2	4	11	1	0	0	0	0	0	0	0	1	10610	1277	45	3		3	NPC1L1	7	44555412	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	401605	44555412	114583251	94	2962											
PION	54103	genome.wustl.edu	37	chr7	77011915	77011915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgaaatcagtaacaGatggttctctggaagaggat	12	12	10	7	0	4	3	1	1	3	2	5	5	4	5	0	3	1	2	0	3	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:77011915G>T	ENST00000257626.7	-	7	580	c.502C>A	c.(502-504)Ctg>Atg	p.L168M		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	168					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ATCAGTAACAGATGGTTCTCT	0.343																																																	0													90	85	87					7																	77011915		1838	4081	5919	SO:0001583	missense	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.502C>A	7.37:g.77011915G>T	ENSP00000257626:p.Leu168Met		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NULL	p.L168M	ENST00000257626.7	37	c.502	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580808	0.65992	.	.	ENSG00000186088	ENST00000257626	T	0.44482	0.92	5.79	4.92	0.64577	.	0.348218	0.18419	U	0.141806	T	0.54822	0.1882	M	0.69823	2.125	0.80722	D	1	D	0.55605	0.972	P	0.55667	0.781	T	0.51601	-0.8685	10	0.18276	T	0.48	.	13.905	0.63828	0.0742:0.0:0.9258:0.0	.	168	A4D1B5	GSAP_HUMAN	M	168	ENSP00000257626:L168M	ENSP00000257626:L168M	L	-	1	2	PION	76849851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.332000	0.59279	1.456000	0.47831	0.650000	0.86243	CTG	GSAP	-	NULL	ENSG00000186088		0.343	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2		0	54	0	G	NM_017439		77011915	-1			no_errors	ENST00000257626	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	77011915	G	T	77011915	3	4	11	1	0	0	0	0	1	0	0	0	11973	933	33	3	2162	3	PION	7	77011915	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	32456503	77011915	82126748	95	2963											
CCDC136	64753	genome.wustl.edu	37	chr7	128454917	128454917	+	Frame_Shift_Del	DEL	A	A	-																															atgccaatggggttaaaatgAaaaaggtgaccaagccatgc																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:128454917delA	ENST00000297788.4	+	15	3356	c.2989delA	c.(2989-2991)aaafs	p.K998fs	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000471729.1_3'UTR	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	998						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GGTTAAAATGAAAAAGGTGAC	0.488																																																	0													55	56	56					7																	128454917		1908	4130	6038	SO:0001589	frameshift_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2989delA	7.37:g.128454917delA	ENSP00000297788:p.Lys998fs		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Del	DEL	NULL	p.K998fs	ENST00000297788.4	37	c.2989	CCDS47704.1	7																																																																																			CCDC136	-	NULL	ENSG00000128596		0.488	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1		0	43	0	A	NM_022742		128454917	1	tier1		no_errors	ENST00000297788	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.153	-	-	128454917	A	-	128454917	7	5	11	1	0	1	0	1	0	0	0	0	2777	247	9	0	3047	0	CCDC136	7	128454917	Frame_Shift_Del	DEL	A	TCGA-2H-A9GQ-01A-11D-A37C-09	51443002	128454917	30683746	96	2964											
CNOT4	4850	genome.wustl.edu	37	chr7	135082950	135082950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcaccgttccctatacTgagagaatctgaaggtttgt	11	14	8	8	1	2	3	1	2	1	1	3	4	3	3	2	1	1	2	2	1	5	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:135082950T>C	ENST00000315544.5	-	8	1129	c.850A>G	c.(850-852)Agt>Ggt	p.S284G	CNOT4_ENST00000428680.2_Missense_Mutation_p.S281G|CNOT4_ENST00000414802.1_Missense_Mutation_p.S284G|CNOT4_ENST00000423368.2_Missense_Mutation_p.S284G|CNOT4_ENST00000356162.4_Missense_Mutation_p.S284G|CNOT4_ENST00000541284.1_Missense_Mutation_p.S284G|CNOT4_ENST00000361528.4_Missense_Mutation_p.S281G|CNOT4_ENST00000451834.1_Missense_Mutation_p.S281G	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	284					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTCCCTATACTGAGAGAATCT	0.348																																					Ovarian(51;766 1130 5502 35047 50875)												0													96	89	91					7																	135082950		1803	4072	5875	SO:0001583	missense	0			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.850A>G	7.37:g.135082950T>C	ENSP00000326731:p.Ser284Gly		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.S284G	ENST00000315544.5	37	c.850	CCDS55166.1	7	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551804	0.45487	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.22	5.22	0.72569	.	0.121826	0.85682	D	0.000000	T	0.40423	0.1116	L	0.29908	0.895	0.53688	D	0.999973	B;B;B;B;B;B	0.09022	0.0;0.001;0.001;0.002;0.0;0.001	B;B;B;B;B;B	0.09377	0.001;0.001;0.002;0.004;0.002;0.002	T	0.21177	-1.0253	10	0.21014	T	0.42	-12.9325	14.2236	0.65843	0.0:0.0:0.0:1.0	.	281;284;284;281;284;281	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	G	284;281;284;284;281;284;284;281;284	ENSP00000445508:S284G;ENSP00000388491:S281G;ENSP00000406777:S284G;ENSP00000354673:S281G;ENSP00000416532:S284G;ENSP00000348485:S284G;ENSP00000399108:S281G;ENSP00000326731:S284G	ENSP00000262563:S284G	S	-	1	0	CNOT4	134733490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.579000	0.67457	2.091000	0.63221	0.528000	0.53228	AGT	CNOT4	-	NULL	ENSG00000080802		0.348	CNOT4-201	KNOWN	basic|CCDS	protein_coding	CNOT4	HGNC	protein_coding		-	0	108	0	T	NM_013316		135082950	-1	tier1	-	no_errors	ENST00000541284	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	135082950	T	C	135082950	3	2	11	1	0	0	0	0	1	0	0	0	3628	1580	55	4	1199	4	CNOT4	7	135082950	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	6628033	135082950	24055713	97	2965											
OR6V1	346517	genome.wustl.edu	37	chr7	142749864	142749864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctatgtgtgtccagctgGctggggctgcctgggcagct	3	10	18	10	0	0	0	0	0	0	0	1	0	1	0	2	5	3	6	2	5	1	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr7:142749864G>A	ENST00000418316.1	+	1	448	c.427G>A	c.(427-429)Gct>Act	p.A143T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGTCCAGCTGGCTGGGGCTGC	0.577																																																	0													70	76	74					7																	142749864		2124	4261	6385	SO:0001583	missense	0				CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"GPCR / Class A : Olfactory receptors"	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.427G>A	7.37:g.142749864G>A	ENSP00000396085:p.Ala143Thr		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A143T	ENST00000418316.1	37	c.427	CCDS47728.1	7	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544874	0.45280	.	.	ENSG00000225781	ENST00000418316	T	0.37752	1.18	4.15	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.30510	0.0767	L	0.43701	1.375	0.22142	N	0.999331	B	0.26577	0.153	B	0.28849	0.095	T	0.30001	-0.9993	9	0.72032	D	0.01	.	6.6202	0.22798	0.2202:0.0:0.7798:0.0	.	143	Q8N148	OR6V1_HUMAN	T	143	ENSP00000396085:A143T	ENSP00000396085:A143T	A	+	1	0	OR6V1	142459986	0.518000	0.26234	0.988000	0.46212	0.973000	0.67179	0.755000	0.26405	0.930000	0.37217	0.655000	0.94253	GCT	OR6V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000225781		0.577	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6V1	HGNC	protein_coding	OTTHUMT00000350860.1		0	38	0	G			142749864	1			no_errors	ENST00000418316	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.973	A	A	142749864	G	A	142749864	3	1	11	1	0	0	0	0	1	0	0	0	11250	1203	42	3	429	3	OR6V1	7	142749864	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	7666914	142749864	16388799	98	2966											
CSMD1	64478	genome.wustl.edu	37	chr8	2813198	2813198	+	Frame_Shift_Del	DEL	G	G	-																															tgcgaggaaaaagcctggatGgcaggtgtacactaaggtgt																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:2813198delG	ENST00000520002.1	-	65	10465	c.9910delC	c.(9910-9912)catfs	p.H3304fs	CSMD1_ENST00000542608.1_Frame_Shift_Del_p.H3126fs|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.H3304fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.H3303fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.H3127fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.H3127fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3304	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGCCTGGATGGCAGGTGTAC	0.502																																																	0													142	138	140					8																	2813198		1965	4166	6131	SO:0001589	frameshift_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9910delC	8.37:g.2813198delG	ENSP00000430733:p.His3304fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3304fs	ENST00000520002.1	37	c.9910		8																																																																																			CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	66	0	G	NM_033225		2813198	-1	tier1		no_errors	ENST00000520002	ensembl	human	known	74_37	frame_shift_del	55.56	40	50	DEL	1.000	-	-	2813198	G	-	2813198	7	5	11	1	0	1	0	1	0	0	0	0	3953	1348	47	0	815	0	CSMD1	8	2813198	Frame_Shift_Del	DEL	G	TCGA-2H-A9GQ-01A-11D-A37C-09		2813198	143550824	99	2967											
SGCZ	137868	genome.wustl.edu	37	chr8	14022123	14022123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagccccaatggtaatCtcatcttcatctgcagaaaa	12	13	5	11	0	5	1	3	0	3	1	6	1	5	1	2	1	2	2	2	1	4	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:14022123C>A	ENST00000382080.1	-	5	1228	c.513G>T	c.(511-513)gaG>gaT	p.E171D	SGCZ_ENST00000421524.2_Missense_Mutation_p.E124D|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	158					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CAATGGTAATCTCATCTTCAT	0.423																																																	0													123	111	115					8																	14022123		2203	4300	6503	SO:0001583	missense	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.513G>T	8.37:g.14022123C>A	ENSP00000371512:p.Glu171Asp		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.E171D	ENST00000382080.1	37	c.513	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165219	0.78339	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.10860	2.83;2.83	5.31	5.31	0.75309	.	0.047960	0.85682	D	0.000000	T	0.31040	0.0784	M	0.75777	2.31	0.51233	D	0.999911	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.00829	-1.1549	10	0.52906	T	0.07	.	11.784	0.52032	0.0:0.9194:0.0:0.0806	.	124;171	Q08AT0;Q96LD1-2	.;.	D	171;124	ENSP00000371512:E171D;ENSP00000405224:E124D	ENSP00000371512:E171D	E	-	3	2	SGCZ	14066494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.107000	0.31110	2.652000	0.90054	0.591000	0.81541	GAG	SGCZ	-	pfam_Sarcoglycan	ENSG00000185053		0.423	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2		0	50	0	C	NM_139167		14022123	-1			no_errors	ENST00000382080	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	14022123	C	A	14022123	3	1	11	1	0	0	0	0	1	0	0	0	14249	912	32	3	441	3	SGCZ	8	14022123	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	11208925	14022123	132341899	100	2968											
PRKDC	5591	genome.wustl.edu	37	chr8	48866998	48866998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctagaacttctaaaagtCtgaagtaactaaaagaatac	19	10	6	6	0	3	3	0	1	3	2	3	3	3	3	0	0	3	1	0	0	10	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:48866998C>T	ENST00000314191.2	-	5	464	c.408G>A	c.(406-408)caG>caA	p.Q136Q	PRKDC_ENST00000338368.3_Silent_p.Q136Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	136					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTCTAAAAGTCTGAAGTAACT	0.284								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													21	19	19					8																	48866998		1747	3975	5722	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.408G>A	8.37:g.48866998C>T			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q136	ENST00000314191.2	37	c.408		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.284	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	98	0	C	NM_001081640		48866998	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	38.06	96	59	SNP	0.997	T	T	48866998	C	T	48866998	2	4	11	1	0	0	0	0	0	0	0	1	12563	912	32	3		3	PRKDC	8	48866998	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	34844875	48866998	97497024	101	2969											
LYN	4067	genome.wustl.edu	37	chr8	56879419	56879419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgctgtggtcaccagggaGgagcccatttacatcatcac	10	9	10	12	1	3	0	3	0	0	0	3	2	3	2	2	3	3	1	2	3	2	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:56879419G>A	ENST00000519728.1	+	9	1232	c.936G>A	c.(934-936)gaG>gaA	p.E312E	LYN_ENST00000520220.2_Silent_p.E291E|LYN_ENST00000420292.1_3'UTR	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	TCACCAGGGAGGAGCCCATTT	0.517																																																	0													89	78	82					8																	56879419		2203	4300	6503	SO:0001819	synonymous_variant	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.936G>A	8.37:g.56879419G>A			A0AVQ5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E312	ENST00000519728.1	37	c.936	CCDS6162.1	8																																																																																			LYN	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000254087		0.517	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	-	0	34	0	G	NM_002350		56879419	1	tier1	-	no_errors	ENST00000519728	ensembl	human	known	74_37	silent	12.31	57	8	SNP	0.998	A	A	56879419	G	A	56879419	2	1	11	1	0	0	0	0	0	0	0	1	9143	991	35	3		3	LYN	8	56879419	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	8012421	56879419	89484603	102	2970											
TAF2	6873	genome.wustl.edu	37	chr8	120795685	120795685	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctcttgttctaatataTcagtgagtgcaagccgagat	11	13	9	8	1	3	2	1	1	2	1	3	3	3	2	1	0	3	3	1	0	4	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:120795685T>G	ENST00000378164.2	-	16	2346	c.2048A>C	c.(2047-2049)gAt>gCt	p.D683A		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	683					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCTAATATATCAGTGAGTGC	0.413																																																	0													112	114	113					8																	120795685		2203	4300	6503	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2048A>C	8.37:g.120795685T>G	ENSP00000367406:p.Asp683Ala		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.D683A	ENST00000378164.2	37	c.2048	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	T	30	5.058000	0.93846	.	.	ENSG00000064313	ENST00000378164	T	0.53423	0.62	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	M	0.77820	2.39	0.80722	D	1	D	0.55800	0.973	P	0.57468	0.821	T	0.68930	-0.5279	10	0.54805	T	0.06	-30.2498	16.6407	0.85098	0.0:0.0:0.0:1.0	.	683	Q6P1X5	TAF2_HUMAN	A	683	ENSP00000367406:D683A	ENSP00000367406:D683A	D	-	2	0	TAF2	120864866	1.000000	0.71417	0.975000	0.42487	0.906000	0.53458	6.267000	0.72546	2.326000	0.78906	0.533000	0.62120	GAT	TAF2	-	NULL	ENSG00000064313		0.413	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0	45	0	T	NM_003184		120795685	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	23.76	77	24	SNP	1.000	G	G	120795685	T	G	120795685	3	3	11	1	0	0	0	0	1	0	0	0	15571	1435	50	4	1595	4	TAF2	8	120795685	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	63916266	120795685	25568337	103	2971											
EIF2C2	27161	genome.wustl.edu	37	chr8	141566294	141566294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taatctcttcttgccgatcgGgcgccgacctagcagtcgct	6	11	10	14	5	2	0	0	0	2	0	5	2	2	0	3	1	2	2	3	1	2	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:141566294G>A	ENST00000220592.5	-	9	1230	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L	AGO2_ENST00000519980.1_Missense_Mutation_p.P373L	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	373					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TTGCCGATCGGGCGCCGACCT	0.512																																																	0													107	100	103					8																	141566294		2203	4300	6503	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1118C>T	8.37:g.141566294G>A	ENSP00000220592:p.Pro373Leu		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.P373L	ENST00000220592.5	37	c.1118	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029186	0.93518	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.09538	2.97;2.97	5.11	5.11	0.69529	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	M	0.88842	2.985	0.80722	D	1	D;P	0.62365	0.991;0.855	D;P	0.68621	0.959;0.845	T	0.46582	-0.9181	10	0.59425	D	0.04	-8.1206	18.8995	0.92437	0.0:0.0:1.0:0.0	.	373;373	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	L	373	ENSP00000220592:P373L;ENSP00000430176:P373L	ENSP00000220592:P373L	P	-	2	0	EIF2C2	141635476	1.000000	0.71417	0.939000	0.37840	0.925000	0.55904	9.697000	0.98697	2.548000	0.85928	0.655000	0.94253	CCC	AGO2	-	superfamily_PAZ_dom	ENSG00000123908		0.512	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	HGNC	protein_coding	OTTHUMT00000377866.4	-	0	69	0	G			141566294	-1	tier1	-	no_errors	ENST00000220592	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	141566294	G	A	141566294	3	1	11	1	0	0	0	0	1	0	0	0	5020	1232	43	3	1505	3	EIF2C2	8	141566294	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	20770609	141566294	4797728	104	2972											
CYP11B1	1584	genome.wustl.edu	37	chr8	143958291	143958291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgctctccaaaaagagcCaagttgctggctgcggggag	10	6	14	11	2	1	1	0	0	1	1	2	2	1	2	3	3	4	4	3	3	3	1	rs61751154		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000377675.3_Silent_p.L273L|CYP11B1_ENST00000517471.1_Silent_p.L202L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAAAGAGCCAAGTTGCTGG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	8e-04	0	5008	,	,		19690	0		0	False		,,,				2504	0																0													37	38	38					8																	143958291		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.606G>A	8.37:g.143958291C>T			Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.L202	ENST00000292427.4	37	c.606	CCDS6392.1	8																																																																																			CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160882		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2		0	54	0	C			143958291	-1			no_errors	ENST00000292427	ensembl	human	known	74_37	silent	6.03	109	7	SNP	0.000	T	T	143958291	C	T	143958291	2	4	11	1	0	0	0	0	0	0	0	1	4154	593	21	3		3	CYP11B1	8	143958291	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	2391997	143958291	2405731	105	2973											
ZNF696	79943	genome.wustl.edu	37	chr8	144378523	144378523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaggtcggacgccgccaaGcaccgccgcacccacaccgg	9	1	12	19	6	0	1	0	0	0	1	1	2	0	2	6	3	1	2	6	3	1	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr8:144378523G>T	ENST00000330143.3	+	3	1087	c.678G>T	c.(676-678)aaG>aaT	p.K226N		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACGCCGCCAAGCACCGCCGCA	0.721																																																	0													6	8	7					8																	144378523		2085	4131	6216	SO:0001583	missense	0			AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.678G>T	8.37:g.144378523G>T	ENSP00000328515:p.Lys226Asn		A0AVE2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K226N	ENST00000330143.3	37	c.678	CCDS6399.1	8	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063376	0.36373	.	.	ENSG00000185730	ENST00000330143	T	0.20598	2.06	2.79	0.901	0.19284	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12305	0.0299	L	0.38953	1.18	0.80722	D	1	P	0.35527	0.507	B	0.34301	0.179	T	0.15321	-1.0441	8	.	.	.	.	2.8113	0.05442	0.3048:0.2505:0.4447:0.0	.	226	Q9H7X3	ZN696_HUMAN	N	226	ENSP00000328515:K226N	.	K	+	3	2	ZNF696	144449898	0.000000	0.05858	0.619000	0.29118	0.077000	0.17291	-0.805000	0.04530	0.497000	0.27926	0.551000	0.68910	AAG	ZNF696	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185730		0.721	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF696	HGNC	protein_coding	OTTHUMT00000381164.2		0	35	0	G	NM_030895		144378523	1			no_errors	ENST00000330143	ensembl	human	known	74_37	missense	10.00	54	6	SNP	0.079	T	T	144378523	G	T	144378523	3	4	11	1	0	0	0	0	1	0	0	0	18147	962	34	3	684	3	ZNF696	8	144378523	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	420232	144378523	1985499	106	2974											
RFX3	5991	genome.wustl.edu	37	chr9	3266289	3266289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgcaaaatttcgaatGgcttgggtcaaggcacctaa	11	13	9	8	1	1	0	1	0	0	0	2	1	1	0	1	3	1	3	1	3	5	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:3266289G>A	ENST00000382004.3	-	13	1685	c.1374C>T	c.(1372-1374)gcC>gcT	p.A458A	RFX3_ENST00000302303.1_Silent_p.A458A|RFX3_ENST00000358730.2_Silent_p.A458A	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	458					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AATTTCGAATGGCTTGGGTCA	0.338																																																	0													87	85	86					9																	3266289		2203	4299	6502	SO:0001819	synonymous_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1374C>T	9.37:g.3266289G>A			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.A458	ENST00000382004.3	37	c.1374	CCDS6449.1	9																																																																																			RFX3	-	NULL	ENSG00000080298		0.338	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0	45	0	G	NM_002919		3266289	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	silent	64.29	10	18	SNP	1.000	A	A	3266289	G	A	3266289	2	1	11	1	0	0	0	0	0	0	0	1	13309	1335	47	3		3	RFX3	9	3266289	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		3266289	137947142	107	2975											
SLC24A2	25769	genome.wustl.edu	37	chr9	19528098	19528098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatactgcaatccaggtaatGgagccaaagaacgtgatggg	15	7	12	7	1	0	2	0	1	0	1	1	3	1	3	2	3	4	2	2	3	6	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:19528098G>T	ENST00000341998.2	-	8	1579	c.1518C>A	c.(1516-1518)tcC>tcA	p.S506S	SLC24A2_ENST00000286344.3_Silent_p.S489S	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	506					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCCAGGTAATGGAGCCAAAGA	0.438																																																	0													103	92	96					9																	19528098		2203	4300	6503	SO:0001819	synonymous_variant	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1518C>A	9.37:g.19528098G>T			B7ZLL8|Q9NTN5|Q9NZQ4	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.S506	ENST00000341998.2	37	c.1518	CCDS6493.1	9																																																																																			SLC24A2	-	tigrfam_K/Na/Ca-exchanger	ENSG00000155886		0.438	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	-	0	45	0	G	NM_020344		19528098	-1	tier1	-	no_errors	ENST00000341998	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	T	T	19528098	G	T	19528098	2	4	11	1	0	0	0	0	0	0	0	1	14511	1335	47	3		3	SLC24A2	9	19528098	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	16261809	19528098	121685333	108	2976											
IFNA2	3440	genome.wustl.edu	37	chr9	21384796	21384796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaactttcttgcaagtttGttgacaaagaaaaagatctc	15	14	6	6	0	2	3	0	1	2	2	3	3	2	3	0	0	2	3	0	0	6	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:21384796G>A	ENST00000380206.2	-	1	600	c.533C>T	c.(532-534)aCa>aTa	p.T178I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	178					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	type I interferon receptor binding (GO:0005132)			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TTGCAAGTTTGTTGACAAAGA	0.378																																																	0													164	165	164					9																	21384796		2203	4300	6503	SO:0001583	missense	0				CCDS6506.1	9p22	2010-08-24			ENSG00000188379	ENSG00000188379		"Interferons"	5423	protein-coding gene	gene with protein product	"alpha-2a interferon", "interferon alpha 2b", "interferon alpha A"	147562				1385305	Standard	NM_000605		Approved	IFNA, IFN-alphaA	uc003zpb.3	P01563	OTTHUMG00000019674	ENST00000380206.2:c.533C>T	9.37:g.21384796G>A	ENSP00000369554:p.Thr178Ile		H2DF54|H2DF55|P01564|Q14606|Q6DJX8|Q96KI6	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.T178I	ENST00000380206.2	37	c.533	CCDS6506.1	9	.	.	.	.	.	.	.	.	.	.	G	7.738	0.700763	0.15172	.	.	ENSG00000188379	ENST00000380206	T	0.03663	3.85	3.16	0.0799	0.14418	.	1.261530	0.05343	N	0.530527	T	0.04861	0.0131	L	0.53249	1.67	0.09310	N	1	B	0.15719	0.014	B	0.24974	0.057	T	0.48490	-0.9031	10	0.52906	T	0.07	.	0.5021	0.00581	0.2563:0.194:0.3523:0.1973	.	178	Q6DJX8	.	I	178	ENSP00000369554:T178I	ENSP00000369554:T178I	T	-	2	0	IFNA2	21374796	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.367000	0.07553	-0.219000	0.10003	0.484000	0.47621	ACA	IFNA2	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000188379		0.378	IFNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA2	HGNC	protein_coding	OTTHUMT00000051903.1		0	115	0	G	NM_000605		21384796	-1			no_errors	ENST00000380206	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.000	A	A	21384796	G	A	21384796	3	1	11	1	0	0	0	0	1	0	0	0	7564	1377	48	3	37	3	IFNA2	9	21384796	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	1856698	21384796	119828635	109	2977											
FLJ46321	389763	genome.wustl.edu	37	chr9	84608189	84608189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaatcgaaagcggaccTttccacttccttttcccatt	9	14	4	14	2	1	0	1	0	0	0	5	2	4	1	4	1	1	0	4	1	2	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:84608189T>C	ENST00000344803.2	+	4	2851	c.2804T>C	c.(2803-2805)cTt>cCt	p.L935P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	935					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAAGCGGACCTTTCCACTTCC	0.483																																																	0													68	64	65					9																	84608189		1873	4111	5984	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2804T>C	9.37:g.84608189T>C	ENSP00000341988:p.Leu935Pro			Missense_Mutation	SNP	NULL	p.L935P	ENST00000344803.2	37	c.2804	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	T	5.329	0.246012	0.10077	.	.	ENSG00000214929	ENST00000344803	T	0.04862	3.54	3.21	-0.411	0.12370	.	22.201100	0.00166	U	0.000000	T	0.03263	0.0095	N	0.02539	-0.55	0.09310	N	1	B	0.16802	0.019	B	0.23574	0.047	T	0.38693	-0.9649	10	0.29301	T	0.29	6.3596	5.7699	0.18247	0.0:0.4887:0.0:0.5113	.	935	Q6ZQQ2	F75D1_HUMAN	P	935	ENSP00000341988:L935P	ENSP00000341988:L935P	L	+	2	0	FAM75D1	83798009	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.477000	0.06583	-0.199000	0.10317	-0.249000	0.11873	CTT	SPATA31D1	-	NULL	ENSG00000214929		0.483	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	73	0	T	NM_001001670		84608189	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	53.85	48	56	SNP	0.000	C	C	84608189	T	C	84608189	3	2	11	1	0	0	0	0	1	0	0	0	5954	1609	56	4	2818	4	FLJ46321	9	84608189	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	63223393	84608189	56605242	110	2978											
ROR2	4920	genome.wustl.edu	37	chr9	94499701	94499701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggttttcaatctccccctgCatctgaagcgagtccacata	9	11	7	14	2	3	1	1	1	2	0	5	2	4	1	3	1	2	2	3	1	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:94499701C>T	ENST00000375708.3	-	5	792	c.594G>A	c.(592-594)atG>atA	p.M198I	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.M58I	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	198	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCCCCCTGCATCTGAAGCG	0.542																																																	0													161	126	138					9																	94499701		2203	4300	6503	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.594G>A	9.37:g.94499701C>T	ENSP00000364860:p.Met198Ile		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.M198I	ENST00000375708.3	37	c.594	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902307	0.92035	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.75589	0.66;-0.95	4.42	4.42	0.53409	Frizzled domain (2);	0.000000	0.51477	D	0.000097	D	0.82600	0.5072	L	0.50333	1.59	0.80722	D	1	P;D;P	0.54964	0.952;0.969;0.952	P;D;P	0.70227	0.786;0.968;0.786	T	0.83239	-0.0059	10	0.49607	T	0.09	.	17.587	0.87984	0.0:1.0:0.0:0.0	.	198;198;58	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	I	58;198	ENSP00000364867:M58I;ENSP00000364860:M198I	ENSP00000364860:M198I	M	-	3	0	ROR2	93539522	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.518000	0.81795	2.431000	0.82371	0.655000	0.94253	ATG	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000169071		0.542	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0	78	0	C			94499701	-1	tier1	-	no_errors	ENST00000375708	ensembl	human	known	74_37	missense	68.18	21	45	SNP	1.000	T	T	94499701	C	T	94499701	3	4	11	1	0	0	0	0	1	0	0	0	13572	710	25	3	2257	3	ROR2	9	94499701	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	9891512	94499701	46713730	111	2979											
ZNF169	169841	genome.wustl.edu	37	chr9	97063005	97063005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaggcagcagtcactcCtccttagtcaccaggtcaca	9	9	8	15	0	4	0	4	0	0	0	6	0	6	0	3	2	1	3	3	2	1	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:97063005C>T	ENST00000395395.2	+	5	1255	c.1165C>T	c.(1165-1167)Ctc>Ttc	p.L389F	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GCAGTCACTCCTCCTTAGTCA	0.567																																																	0													63	55	58					9																	97063005		2203	4300	6503	SO:0001583	missense	0			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.1165C>T	9.37:g.97063005C>T	ENSP00000378792:p.Leu389Phe		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L389F	ENST00000395395.2	37	c.1165	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250744	0.22880	.	.	ENSG00000175787	ENST00000395395;ENST00000340911	T	0.52057	0.68	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63082	0.2481	M	0.79343	2.45	0.43133	D	0.994879	D	0.89917	1.0	P	0.60609	0.877	T	0.68685	-0.5343	9	0.59425	D	0.04	.	11.6205	0.51115	0.0:1.0:0.0:0.0	.	389	Q14929	ZN169_HUMAN	F	389;198	ENSP00000378792:L389F	ENSP00000340711:L198F	L	+	1	0	ZNF169	96102826	0.004000	0.15560	0.127000	0.21898	0.002000	0.02628	-0.022000	0.12480	1.836000	0.53414	0.603000	0.83216	CTC	ZNF169	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175787		0.567	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	-	0	39	0	C	NM_194320		97063005	1	tier1	-	no_errors	ENST00000395395	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.174	T	T	97063005	C	T	97063005	3	4	11	1	0	0	0	0	1	0	0	0	17790	681	24	3	1179	3	ZNF169	9	97063005	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	2563304	97063005	44150426	112	2980											
FAM22F	54754	genome.wustl.edu	37	chr9	97082712	97082712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagggaccttggtctcCgctggcctctggggcctggg	2	10	15	14	1	3	0	1	0	2	0	5	1	4	1	5	6	0	1	5	6	0	1	rs397839742		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:97082712C>T	ENST00000253262.4	-	5	1166	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A	NUTM2F_ENST00000335456.7_Silent_p.A367A|NUTM2F_ENST00000341207.4_Silent_p.A367A	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	382	Pro-rich.																CCTTGGTCTCCGCTGGCCTCT	0.677													.|||	1	0.000199681	0	0	5008	,	,		15666	0.001		0	False		,,,				2504	0																0													49	60	56					9																	97082712		1971	4139	6110	SO:0001819	synonymous_variant	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"family with sequence similarity 22, member F"	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1146G>A	9.37:g.97082712C>T			B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	NULL	p.A382	ENST00000253262.4	37	c.1146	CCDS47994.1	9																																																																																			NUTM2F	-	NULL	ENSG00000130950		0.677	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2F	HGNC	protein_coding	OTTHUMT00000053173.2	-	0	389	0	C	NM_017561		97082712	-1	tier1	-	no_errors	ENST00000253262	ensembl	human	known	74_37	silent	55.17	221	272	SNP	0.024	T	T	97082712	C	T	97082712	2	4	11	1	0	0	0	0	0	0	0	1	5564	639	23	1		1	FAM22F	9	97082712	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	19707	97082712	44130719	113	2981											
TMEFF1	8577	genome.wustl.edu	37	chr9	103271286	103271286	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttgttgcttttgcaGtgccatacaaattatattcc	9	20	5	7	0	0	0	0	0	0	0	1	0	1	0	2	0	4	3	2	0	5	10			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:103271286G>T	ENST00000374879.4	+	3	738		c.e3-1		MSANTD3-TMEFF1_ENST00000502978.1_Splice_Site|TMEFF1_ENST00000334943.6_Splice_Site	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1						multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				TGCTTTTGCAGTGCCATACAA	0.348																																																	0													101	98	99					9																	103271286		2203	4300	6503	SO:0001630	splice_region_variant	0			U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"tomoregulin-1", "cancer/testis antigen family 120, member 1"	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.307-1G>T	9.37:g.103271286G>T			Q13086|Q8N3T8	Splice_Site	SNP	-	e3-1	ENST00000374879.4	37	c.307-1	CCDS6750.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095008	0.76870	.	.	ENSG00000251349;ENSG00000241697;ENSG00000241697	ENST00000502978;ENST00000334943;ENST00000374879	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7585	0.85506	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMEFF1;C9orf30-TMEFF1	102311107	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.439000	0.90308	2.546000	0.85860	0.555000	0.69702	.	TMEFF1	-	-	ENSG00000241697		0.348	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	HGNC	protein_coding	OTTHUMT00000053418.1		0	38	0	G	NM_003692	Intron	103271286	1			no_errors	ENST00000374879	ensembl	human	known	74_37	splice_site	5.26	54	3	SNP	1.000	T	T	103271286	G	T	103271286	5	4	11	1	0	0	0	0	0	0	1	0	16060	1043	36	3	316	3	TMEFF1	9	103271286	Splice_Site	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	6188574	103271286	37942145	114	2982											
PIP5KL1	138429	genome.wustl.edu	37	chr9	130691998	130691998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccatggagacctgggtgGcagcccacagccctgcctgc	6	6	14	15	0	0	1	0	0	0	1	1	2	1	1	5	4	4	1	5	4	0	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:130691998G>A	ENST00000388747.4	-	2	241	c.197C>T	c.(196-198)gCc>gTc	p.A66V	PIP5KL1_ENST00000300432.3_5'Flank|PIP5KL1_ENST00000490773.1_5'Flank	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	66	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GACCTGGGTGGCAGCCCACAG	0.622																																																	0													25	26	26					9																	130691998		1566	3581	5147	SO:0001583	missense	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.197C>T	9.37:g.130691998G>A	ENSP00000373399:p.Ala66Val		Q8IVS3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.A66V	ENST00000388747.4	37	c.197	CCDS48030.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.303350	0.95601	.	.	ENSG00000167103	ENST00000388747	T	0.31769	1.48	5.19	5.19	0.71726	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.068329	0.56097	D	0.000025	T	0.54935	0.1889	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.59716	-0.7402	10	0.59425	D	0.04	-25.79	14.197	0.65677	0.0:0.0:1.0:0.0	.	66	Q5T9C9	PI5L1_HUMAN	V	66	ENSP00000373399:A66V	ENSP00000373399:A66V	A	-	2	0	PIP5KL1	129731819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.424000	0.90267	2.399000	0.81585	0.561000	0.74099	GCC	PIP5KL1	-	NULL	ENSG00000167103		0.622	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	-	0	39	0	G	NM_173492		130691998	-1	tier1	-	no_errors	ENST00000388747	ensembl	human	novel	74_37	missense	7.69	48	4	SNP	1.000	A	A	130691998	G	A	130691998	3	1	11	1	0	0	0	0	1	0	0	0	11981	1203	42	3	1023	3	PIP5KL1	9	130691998	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	27420712	130691998	10521433	115	2983											
GLE1	2733	genome.wustl.edu	37	chr9	131295828	131295828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttgacaagatccacaGcctgctctctggaaaacctg	11	10	8	12	0	2	2	0	1	2	1	4	4	3	3	3	1	3	1	3	1	3	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:131295828G>A	ENST00000309971.4	+	10	1455	c.1349G>A	c.(1348-1350)aGc>aAc	p.S450N	GLE1_ENST00000494417.1_3'UTR|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Missense_Mutation_p.S196N|GLE1_ENST00000372770.4_Missense_Mutation_p.S450N	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	450	Mediates the shuttling between the nucleus and the cytoplasm.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S450N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AAGATCCACAGCCTGCTCTCT	0.423																																																	2	Substitution - Missense(2)	endometrium(2)											95	98	97					9																	131295828		2203	4300	6503	SO:0001583	missense	0			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"GLE1 (yeast homolog)-like, RNA export mediator", "GLE1 RNA export mediator-like (yeast)", "GLE1 RNA export mediator (yeast)", "lethal congenital contracture syndrome 1", "GLE1 RNA export mediator homolog (yeast)"	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1349G>A	9.37:g.131295828G>A	ENSP00000308622:p.Ser450Asn		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	pfam_GLE1	p.S450N	ENST00000309971.4	37	c.1349	CCDS35154.1	9	.	.	.	.	.	.	.	.	.	.	G	5.499	0.277050	0.10403	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.72615	-0.67;-0.67;-0.67	5.82	0.912	0.19349	.	0.382752	0.34507	N	0.003910	T	0.36744	0.0978	N	0.02202	-0.64	0.23459	N	0.997636	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.004	T	0.25779	-1.0122	10	0.11485	T	0.65	-10.3892	7.3916	0.26913	0.6643:0.0:0.3357:0.0	.	450;450	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	N	450;450;196	ENSP00000308622:S450N;ENSP00000361856:S450N;ENSP00000438670:S196N	ENSP00000308622:S450N	S	+	2	0	GLE1	130335649	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.419000	0.34793	0.246000	0.21394	0.561000	0.74099	AGC	GLE1	-	pfam_GLE1	ENSG00000119392		0.423	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	HGNC	protein_coding	OTTHUMT00000054456.1		0	43	0	G	NM_001003722		131295828	1			no_errors	ENST00000309971	ensembl	human	known	74_37	missense	5.56	33	2	SNP	0.997	A	A	131295828	G	A	131295828	3	1	11	1	0	0	0	0	1	0	0	0	6461	971	34	3	1387	3	GLE1	9	131295828	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	603830	131295828	9917603	116	2984											
FCN2	2220	genome.wustl.edu	37	chr9	137772729	137772729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgctgctctctttcctggGcatggcctgggctctccagg	2	12	12	15	0	2	0	0	0	2	0	5	0	3	0	4	4	2	4	4	4	0	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr9:137772729G>A	ENST00000291744.6	+	1	72	c.62G>A	c.(61-63)gGc>gAc	p.G21D	FCN2_ENST00000350339.2_Missense_Mutation_p.G21D	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	21					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCTTTCCTGGGCATGGCCTGG	0.612																																																	0													38	43	42					9																	137772729		2203	4300	6503	SO:0001583	missense	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.62G>A	9.37:g.137772729G>A	ENSP00000291744:p.Gly21Asp		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G21D	ENST00000291744.6	37	c.62	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	4.037	0.004409	0.07866	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.60548	0.18;0.74	0.986	0.986	0.19784	.	.	.	.	.	T	0.32556	0.0833	N	0.19112	0.55	0.09310	N	1	P;B	0.36354	0.549;0.309	B;B	0.26770	0.025;0.073	T	0.11275	-1.0594	9	0.35671	T	0.21	.	5.3088	0.15819	0.0:0.0:1.0:0.0	.	21;21	Q15485-2;Q15485	.;FCN2_HUMAN	D	21	ENSP00000291741:G21D;ENSP00000291744:G21D	ENSP00000291744:G21D	G	+	2	0	FCN2	136912550	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.445000	0.21677	0.818000	0.34468	0.591000	0.81541	GGC	FCN2	-	NULL	ENSG00000160339		0.612	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	-	0	57	0	G	NM_004108		137772729	1	tier1	-	no_errors	ENST00000291744	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.001	A	A	137772729	G	A	137772729	3	1	11	1	0	0	0	0	1	0	0	0	5814	1203	42	3	64	3	FCN2	9	137772729	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	6476901	137772729	3440702	117	2985											
ITGA8	8516	genome.wustl.edu	37	chr10	15760810	15760810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcgcagacccctccgCgggccaaggacagtaataga	11	4	12	14	3	0	2	0	0	0	2	1	3	1	3	4	2	1	3	4	2	3	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:15760810C>T	ENST00000378076.3	-	2	651	c.298G>A	c.(298-300)Gcg>Acg	p.A100T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	100					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GACCCCTCCGCGGGCCAAGGA	0.587																																																	0													120	107	112					10																	15760810		2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.298G>A	10.37:g.15760810C>T	ENSP00000367316:p.Ala100Thr		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.A100T	ENST00000378076.3	37	c.298	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739921	0.49045	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.55930	0.49	4.79	2.86	0.33363	.	0.235578	0.42420	D	0.000713	T	0.29288	0.0729	L	0.27944	0.81	0.09310	N	1	P;P	0.46784	0.884;0.816	B;B	0.33521	0.165;0.079	T	0.28004	-1.0057	10	0.08179	T	0.78	.	11.5979	0.50984	0.1393:0.7266:0.1341:0.0	.	100;100	F5H818;P53708	.;ITA8_HUMAN	T	100	ENSP00000367316:A100T	ENSP00000367316:A100T	A	-	1	0	ITGA8	15800816	0.385000	0.25172	0.001000	0.08648	0.977000	0.68977	2.254000	0.43214	0.569000	0.29329	0.561000	0.74099	GCG	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.587	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	46	0	C	NM_003638		15760810	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	27.54	50	19	SNP	0.051	T	T	15760810	C	T	15760810	3	4	11	1	0	0	0	0	1	0	0	0	7909	768	27	1	3009	1	ITGA8	10	15760810	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		15760810	119773937	118	2986											
SEC24C	9632	genome.wustl.edu	37	chr10	75530546	75530546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacgggcacagagatcccGgtacatgaaggtaacactga	13	7	11	10	2	0	3	0	2	0	1	1	4	1	3	1	3	3	3	1	3	4	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:75530546G>A	ENST00000339365.2	+	23	3296	c.3134G>A	c.(3133-3135)cGg>cAg	p.R1045Q	SEC24C_ENST00000345254.4_Missense_Mutation_p.R1045Q|FUT11_ENST00000372841.3_5'Flank|FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000540668.1_Missense_Mutation_p.R293Q|SEC24C_ENST00000411652.2_Missense_Mutation_p.R926Q|SEC24C_ENST00000535742.1_Missense_Mutation_p.R293Q	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	1045					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CAGAGATCCCGGTACATGAAG	0.468																																																	0													137	116	123					10																	75530546		2203	4300	6503	SO:0001583	missense	0			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.3134G>A	10.37:g.75530546G>A	ENSP00000343405:p.Arg1045Gln		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.R1045Q	ENST00000339365.2	37	c.3134	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777374	0.70107	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	M	0.87682	2.9	0.80722	D	1	D;D	0.61080	0.989;0.976	P;P	0.49192	0.602;0.602	T	0.48281	-0.9049	10	0.30854	T	0.27	-9.429	13.1372	0.59415	0.1131:0.0:0.8869:0.0	.	926;1045	E7EP00;P53992	.;SC24C_HUMAN	Q	293;1045;293;1045;926	ENSP00000446174:R293Q;ENSP00000321845:R1045Q;ENSP00000445023:R293Q;ENSP00000343405:R1045Q;ENSP00000402913:R926Q	ENSP00000343405:R1045Q	R	+	2	0	SEC24C	75200552	0.995000	0.38212	0.995000	0.50966	0.998000	0.95712	4.213000	0.58520	2.857000	0.98124	0.650000	0.86243	CGG	SEC24C	-	NULL	ENSG00000176986		0.468	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0	40	0	G			75530546	1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	missense	16.42	56	11	SNP	0.999	A	A	75530546	G	A	75530546	3	1	11	1	0	0	0	0	1	0	0	0	14041	1116	39	1	3216	1	SEC24C	10	75530546	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	59769736	75530546	60004201	119	2987											
DLG5	9231	genome.wustl.edu	37	chr10	79556267	79556267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcatctccttcaccacGtccagcaaaggccccagaat	12	6	6	17	1	2	1	1	0	1	1	4	1	3	1	6	1	2	2	6	1	2	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:79556267G>T	ENST00000372391.2	-	28	5255	c.5250C>A	c.(5248-5250)gaC>gaA	p.D1750E	DLG5_ENST00000372388.2_Missense_Mutation_p.D1410E|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1750	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTTCACCACGTCCAGCAAAG	0.602																																																	0													115	96	103					10																	79556267		2203	4300	6503	SO:0001583	missense	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5250C>A	10.37:g.79556267G>T	ENSP00000361467:p.Asp1750Glu		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.D1750E	ENST00000372391.2	37	c.5250	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349055	0.24426	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.17854	2.25;2.25;2.25	5.86	-11.7	0.00046	Guanylate kinase/L-type calcium channel (1);	0.000000	0.40818	N	0.001010	T	0.11580	0.0282	L	0.37850	1.14	0.34909	D	0.747297	B;B	0.30727	0.207;0.292	B;B	0.34489	0.084;0.184	T	0.47947	-0.9077	10	0.07325	T	0.83	.	23.9578	0.99987	0.8995:0.0:0.1005:0.0	.	1750;1410	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	E	1750;711;1410	ENSP00000361467:D1750E;ENSP00000394797:D711E;ENSP00000361464:D1410E	ENSP00000361464:D1410E	D	-	3	2	DLG5	79226273	0.022000	0.18835	0.099000	0.21106	0.743000	0.42351	-0.364000	0.07583	-2.759000	0.00371	-1.686000	0.00732	GAC	DLG5	-	superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu	ENSG00000151208		0.602	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0	42	0	G			79556267	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.488	T	T	79556267	G	T	79556267	3	4	11	1	0	0	0	0	1	0	0	0	4572	1136	40	2	529	2	DLG5	10	79556267	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	4025721	79556267	55978480	120	2988											
BTRC	8945	genome.wustl.edu	37	chr10	103291061	103291061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactctttttatagagcaCtttatcctaaaattatacaa	15	15	2	9	0	1	1	0	0	1	1	2	1	2	1	2	0	3	1	2	0	9	9			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:103291061C>T	ENST00000370187.3	+	7	929	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	BTRC_ENST00000408038.2_Missense_Mutation_p.L235F|BTRC_ENST00000393441.4_Missense_Mutation_p.L230F	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	271					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TTATAGAGCACTTTATCCTAA	0.363																																																	0													84	93	90					10																	103291061		2203	4300	6503	SO:0001583	missense	0			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.811C>T	10.37:g.103291061C>T	ENSP00000359206:p.Leu271Phe		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L271F	ENST00000370187.3	37	c.811	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497025	0.64186	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.24723	1.84;1.84;1.84	5.57	4.66	0.58398	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000004	T	0.51924	0.1703	M	0.88640	2.97	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	P;D;P	0.64321	0.888;0.924;0.907	T	0.58284	-0.7663	10	0.17369	T	0.5	-8.5611	14.5835	0.68308	0.0:0.9295:0.0:0.0705	.	245;235;271	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	F	271;230;235	ENSP00000359206:L271F;ENSP00000377088:L230F;ENSP00000385339:L235F	ENSP00000359206:L271F	L	+	1	0	BTRC	103281051	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.818000	0.86416	1.346000	0.45694	-0.157000	0.13467	CTT	BTRC	-	superfamily_F-box_dom	ENSG00000166167		0.363	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	-	0	44	0	C	NM_033637		103291061	1	tier1	-	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	T	T	103291061	C	T	103291061	3	4	11	1	0	0	0	0	1	0	0	0	1573	565	20	3	837	3	BTRC	10	103291061	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	23734794	103291061	32243686	121	2989											
ADD3	120	genome.wustl.edu	37	chr10	111886193	111886193	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattcgggaacaaaatcgaTatgacttgaaaacagcagga	18	7	10	6	2	0	3	0	2	0	1	2	6	0	5	0	2	3	1	0	2	6	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:111886193T>A	ENST00000356080.4	+	12	1907	c.1540T>A	c.(1540-1542)Tat>Aat	p.Y514N	ADD3_ENST00000277900.8_Missense_Mutation_p.Y514N|ADD3_ENST00000360162.3_Missense_Mutation_p.Y514N	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	514						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACAAAATCGATATGACTTGAA	0.348																																																	0													129	118	122					10																	111886193		2203	4300	6503	SO:0001583	missense	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1540T>A	10.37:g.111886193T>A	ENSP00000348381:p.Tyr514Asn		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Y514N	ENST00000356080.4	37	c.1540	CCDS7561.1	10	.	.	.	.	.	.	.	.	.	.	T	12.09	1.832400	0.32421	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.17370	2.28;2.28;2.28	5.79	5.79	0.91817	.	0.229129	0.44285	D	0.000464	T	0.09024	0.0223	N	0.11427	0.14	0.36242	D	0.853354	P;P	0.40875	0.59;0.731	B;B	0.36922	0.222;0.236	T	0.35051	-0.9804	10	0.30078	T	0.28	-12.5683	10.4681	0.44620	0.0:0.0721:0.0:0.9279	.	514;514	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	N	514	ENSP00000353286:Y514N;ENSP00000348381:Y514N;ENSP00000277900:Y514N	ENSP00000277900:Y514N	Y	+	1	0	ADD3	111876183	0.996000	0.38824	0.902000	0.35471	0.972000	0.66771	2.485000	0.45250	2.207000	0.71202	0.533000	0.62120	TAT	ADD3	-	NULL	ENSG00000148700		0.348	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	-	0	79	0	T	NM_019903		111886193	1	tier1	-	no_errors	ENST00000356080	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.675	A	A	111886193	T	A	111886193	3	1	11	1	0	0	0	0	1	0	0	0	306	1406	49	5	1582	5	ADD3	10	111886193	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	8595132	111886193	23648554	122	2990											
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118351287	118351287	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacctttctctgtaggaaaAgaagtttgctatgaggacct	12	12	9	8	0	1	2	0	1	1	1	2	4	1	4	2	2	2	3	2	2	6	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:118351287A>G	ENST00000528052.1	+	3	125	c.54A>G	c.(52-54)aaA>aaG	p.K18K	PNLIPRP1_ENST00000358834.4_Silent_p.K18K|PNLIPRP1_ENST00000442761.1_Silent_p.K18K|PNLIPRP1_ENST00000534537.1_Silent_p.K18K|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	18					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTGTAGGAAAAGAAGTTTGCT	0.532																																																	0													118	123	121					10																	118351287		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.54A>G	10.37:g.118351287A>G			Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.K18	ENST00000528052.1	37	c.54	CCDS7595.1	10																																																																																			PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000187021		0.532	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	-	0	27	0	A	NM_006229		118351287	1	tier1	-	no_errors	ENST00000358834	ensembl	human	known	74_37	silent	57.50	17	23	SNP	0.057	G	G	118351287	A	G	118351287	2	3	11	1	0	0	0	0	0	0	0	1	12189	69	3	4		4	PNLIPRP1	10	118351287	Silent	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	6465094	118351287	17183460	123	2991											
PPP2R2D	55844	genome.wustl.edu	37	chr10	133761153	133761153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccagagactacctgtcgGtgaaggtgtgggacctcaac	10	8	13	10	1	1	3	1	2	0	1	2	5	1	4	3	3	2	0	3	3	3	1	rs76274320		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr10:133761153G>T	ENST00000422256.2	+	6	742	c.257G>T	c.(256-258)gGt>gTt	p.G86V	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	313					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CTACCTGTCGGTGAAGGTGTG	0.517																																																	0													77	78	78					10																	133761153		2008	4195	6203	SO:0001583	missense	0			AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	23732	protein-coding gene	gene with protein product	"PP2A subunit B isoform delta"	613992	"protein phosphatase 2, regulatory subunit B, delta isoform"			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.257G>T	10.37:g.133761153G>T	ENSP00000406501:p.Gly86Val		A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.V283L	ENST00000422256.2	37	c.847		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.63|12.63	1.996946|1.996946	0.35226|0.35226	.|.	.|.	ENSG00000175470|ENSG00000175470	ENST00000422256|ENST00000455566	.|T	.|0.32988	.|1.43	3.07|3.07	3.07|3.07	0.35406|0.35406	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.17959|0.17959	0.0431|0.0431	.|.	.|.	.|.	0.49483|0.49483	D|D	0.99979|0.99979	.|B	.|0.15141	.|0.012	.|B	.|0.17098	.|0.017	T|T	0.05305|0.05305	-1.0893|-1.0893	5|9	0.72032|0.09590	D|T	0.01|0.72	-15.0156|-15.0156	14.9899|14.9899	0.71377|0.71377	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|314	.|Q66LE6	.|2ABD_HUMAN	V|L	86|283	.|ENSP00000399970:V283L	ENSP00000406501:G86V|ENSP00000399970:V283L	G|V	+|+	2|1	0|0	PPP2R2D|PPP2R2D	133611143|133611143	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.984000|0.984000	0.73092|0.73092	8.684000|8.684000	0.91242|0.91242	2.028000|2.028000	0.59812|0.59812	0.655000|0.655000	0.94253|0.94253	GGT|GTG	PPP2R2D	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	ENSG00000175470		0.517	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	PPP2R2D	HGNC	protein_coding		-	0	107	0	G	NM_018461		133761153	1	tier1	-	no_errors	ENST00000455566	ensembl	human	known	74_37	missense	71.11	26	64	SNP	1.000	T	T	133761153	G	T	133761153	3	4	11	1	0	0	0	0	1	0	0	0	12429	1261	44	3	864	3	PPP2R2D	10	133761153	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	15409866	133761153	1773594	124	2992											
SIRT3	23410	genome.wustl.edu	37	chr11	218900	218900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagaagctccactaggctttCcacgccgtgaaccacgtccc	9	7	8	17	3	0	2	0	1	0	1	3	2	3	2	5	1	2	2	5	1	3	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:218900C>G	ENST00000382743.4	-	6	1213	c.1111G>C	c.(1111-1113)Gaa>Caa	p.E371Q	SIRT3_ENST00000529382.1_Missense_Mutation_p.E229Q|SIRT3_ENST00000525319.1_Missense_Mutation_p.E290Q|SIRT3_ENST00000524564.1_Missense_Mutation_p.E307Q|SIRT3_ENST00000532956.1_Missense_Mutation_p.E317Q	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	371	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ACTAGGCTTTCCACGCCGTGA	0.627																																																	0													111	101	104					11																	218900		2203	4300	6503	SO:0001583	missense	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1111G>C	11.37:g.218900C>G	ENSP00000372191:p.Glu371Gln		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.E371Q	ENST00000382743.4	37	c.1111	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	C	5.589	0.293464	0.10567	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	4.99	3.02	0.34903	.	0.379586	0.30285	N	0.009966	T	0.10508	0.0257	L	0.28458	0.855	0.09310	N	1	B;B;B;B;B	0.19200	0.02;0.034;0.013;0.019;0.034	B;B;B;B;B	0.11329	0.006;0.005;0.003;0.003;0.003	T	0.27706	-1.0066	10	0.27082	T	0.32	-4.6244	5.9365	0.19169	0.0:0.6695:0.157:0.1735	.	317;371;290;307;371	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	Q	371;290;307;317;229	ENSP00000372191:E371Q;ENSP00000435464:E290Q;ENSP00000432937:E307Q;ENSP00000433077:E317Q;ENSP00000437216:E229Q	ENSP00000372191:E371Q	E	-	1	0	SIRT3	208900	0.064000	0.20934	0.344000	0.25628	0.422000	0.31414	0.493000	0.22451	0.571000	0.29365	0.505000	0.49811	GAA	SIRT3	-	pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	ENSG00000142082		0.627	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	-	0	51	0	C			218900	-1	tier1	-	no_errors	ENST00000382743	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.073	G	G	218900	C	G	218900	3	3	11	1	0	0	0	0	1	0	0	0	14384	864	30	5	96	5	SIRT3	11	218900	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		218900	134787616	125	2993											
MUC6	4588	genome.wustl.edu	37	chr11	1016373	1016376	+	Frame_Shift_Del	DEL	GAAG	GAAG	-																															agtgggaggagggcacataaGaagaaacagtagagggggca																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	GAAG	GAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:1016373_1016376delGAAG	ENST00000421673.2	-	31	6475_6478	c.6425_6428delCTTC	c.(6424-6429)tcttctfs	p.SS2142fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2142	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCACATAAGAAGAAACAGTAGA	0.544																																																	0																																										SO:0001589	frameshift_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6425_6428delCTTC	11.37:g.1016373_1016376delGAAG	ENSP00000406861:p.Ser2142fs		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2142fs	ENST00000421673.2	37	c.6428_6425	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.544	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	79	0	GAAG	XM_290540		1016376	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	frame_shift_del	18.75	26	6	DEL	0.001:0.000:0.000:0.002	-	-	1016376	GAAG	-	1016373	7	5	11	1	0	1	0	1	0	0	0	0	10018	942	33	0	903	0	MUC6	11	1016373	Frame_Shift_Del	DEL	GAAG	TCGA-2H-A9GQ-01A-11D-A37C-09	797473	1016373	133990143	126	2994											
MUC6	4588	genome.wustl.edu	37	chr11	1031203	1031203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcgttggtcaccttcccGtcaaagttcccgcagagccc	8	9	8	16	3	2	1	2	0	0	1	5	1	4	1	4	1	2	3	4	1	2	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:1031203G>A	ENST00000421673.2	-	5	590	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	180	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCACCTTCCCGTCAAAGTTCC	0.706																																																	0													19	17	18					11																	1031203		1815	4055	5870	SO:0001819	synonymous_variant	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.540C>T	11.37:g.1031203G>A			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.D180	ENST00000421673.2	37	c.540	CCDS44513.1	11																																																																																			MUC6	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000184956		0.706	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	64	0	G	XM_290540		1031203	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	silent	41.03	23	16	SNP	0.937	A	A	1031203	G	A	1031203	2	1	11	1	0	0	0	0	0	0	0	1	10018	1136	40	1		1	MUC6	11	1031203	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	14830	1031203	133975313	127	2995											
ABCC8	6833	genome.wustl.edu	37	chr11	17483280	17483280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggtgcctttggacagCagattcacgaagggctgcag	10	8	14	9	1	1	1	1	0	0	1	1	3	1	2	1	3	3	4	1	3	2	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:17483280C>T	ENST00000389817.3	-	5	740	c.672G>A	c.(670-672)ctG>ctA	p.L224L	ABCC8_ENST00000302539.4_Silent_p.L224L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	224					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTTTGGACAGCAGATTCACGA	0.577																																																	0													155	134	141					11																	17483280		2200	4293	6493	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.672G>A	11.37:g.17483280C>T			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L224	ENST00000389817.3	37	c.672	CCDS31437.1	11																																																																																			ABCC8	-	prints_Sulphorea_rcpt	ENSG00000006071		0.577	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	44	0	C	NM_000352		17483280	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	32.00	34	16	SNP	1.000	T	T	17483280	C	T	17483280	2	4	11	1	0	0	0	0	0	0	0	1	58	697	25	3		3	ABCC8	11	17483280	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	16452077	17483280	117523236	128	2996											
AMBRA1	55626	genome.wustl.edu	37	chr11	46563567	46563567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgtgacacagttccaGatctgctggactgggtgtaa	8	11	11	11	0	1	2	0	1	1	1	3	3	3	3	3	2	1	3	3	2	1	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:46563567G>T	ENST00000458649.2	-	7	2418	c.2000C>A	c.(1999-2001)tCt>tAt	p.S667Y	AMBRA1_ENST00000426438.1_Missense_Mutation_p.S667Y|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S577Y|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S667Y|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S667Y|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S577Y|AMBRA1_ENST00000534300.1_Missense_Mutation_p.S667Y			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	667					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CACAGTTCCAGATCTGCTGGA	0.537																																																	0													102	94	97					11																	46563567		2201	4299	6500	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2000C>A	11.37:g.46563567G>T	ENSP00000415327:p.Ser667Tyr		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S667Y	ENST00000458649.2	37	c.2000		11	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026984	0.35797	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	D;T;D;T;D;D;T	0.90788	-2.73;-0.68;-2.73;-0.35;-2.73;-2.73;-0.35	5.79	5.79	0.91817	.	0.487206	0.23712	N	0.045312	D	0.87099	0.6093	N	0.19112	0.55	0.35236	D	0.777391	P;B;B;P;P;B	0.44877	0.845;0.32;0.32;0.545;0.786;0.32	B;B;B;B;B;B	0.43251	0.185;0.351;0.351;0.351;0.413;0.351	D	0.90900	0.4768	10	0.72032	D	0.01	.	20.0473	0.97613	0.0:0.0:1.0:0.0	.	667;667;667;577;577;577	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	Y	577;577;667;667;667;577;667;667	ENSP00000318313:S577Y;ENSP00000433372:S577Y;ENSP00000431926:S667Y;ENSP00000410899:S667Y;ENSP00000298834:S667Y;ENSP00000415327:S667Y;ENSP00000433945:S667Y	ENSP00000298834:S667Y	S	-	2	0	AMBRA1	46520143	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.022000	0.70839	2.722000	0.93159	0.655000	0.94253	TCT	AMBRA1	-	NULL	ENSG00000110497		0.537	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	56	0	G	NM_017749		46563567	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	46563567	G	T	46563567	3	4	11	1	0	0	0	0	1	0	0	0	565	942	33	3	1944	3	AMBRA1	11	46563567	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	29080287	46563567	88442949	129	2997											
F2	2147	genome.wustl.edu	37	chr11	46760903	46760904	+	Frame_Shift_Del	DEL	AT	AT	-																															gaaatatggcttctacacacAtgtgttccgcctgaagaagt																								rs368442575		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:46760903_46760904delAT	ENST00000311907.5	+	14	1870_1871	c.1814_1815delAT	c.(1813-1815)catfs	p.H605fs	F2_ENST00000530231.1_Frame_Shift_Del_p.H566fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	605	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TTCTACACACATGTGTTCCGCC	0.495																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0			GRCh37	CM030036	F2	M																																				SO:0001589	frameshift_variant	0			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1814_1815delAT	11.37:g.46760903_46760904delAT	ENSP00000308541:p.His605fs		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.H605fs	ENST00000311907.5	37	c.1814_1815	CCDS31476.1	11																																																																																			F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1,prints_Prothrombin/thrombin	ENSG00000180210		0.495	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1		0	42	0	AT			46760904	1	tier1		no_errors	ENST00000311907	ensembl	human	known	74_37	frame_shift_del	41.67	14	10	DEL	1.000:0.856	-	-	46760904	AT	-	46760903	7	5	11	1	0	1	0	1	0	0	0	0	5358	217	8	0	1868	0	F2	11	46760903	Frame_Shift_Del	DEL	AT	TCGA-2H-A9GQ-01A-11D-A37C-09	197336	46760903	88245613	130	2998											
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57085349	57085349	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccgttgaaggccaggtcGgaaggaaggctcctgtgagg	8	7	16	10	2	0	2	0	2	0	0	3	4	2	4	4	6	0	2	4	6	3	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:57085349G>A	ENST00000532437.1	-	3	1052	c.741C>T	c.(739-741)tcC>tcT	p.S247S	TNKS1BP1_ENST00000358252.3_Silent_p.S247S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	247	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCCAGGTCGGAAGGAAGGC	0.512																																																	0													79	75	76					11																	57085349		2201	4296	6497	SO:0001819	synonymous_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.741C>T	11.37:g.57085349G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.S247	ENST00000532437.1	37	c.741	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.512	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	-	0	30	0	G	NM_033396		57085349	-1	tier1	-	no_errors	ENST00000358252	ensembl	human	known	74_37	silent	59.38	13	19	SNP	0.000	A	A	57085349	G	A	57085349	2	1	11	1	0	0	0	0	0	0	0	1	16367	1103	39	1		1	TNKS1BP1	11	57085349	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	10324446	57085349	77921167	131	2999											
ZDHHC5	25921	genome.wustl.edu	37	chr11	57449977	57449977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtgttggccaacttcaGcatggccaccttcatggacc	7	12	9	13	0	2	0	2	0	0	0	2	1	2	1	4	3	2	2	4	3	1	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:57449977G>T	ENST00000287169.3	+	3	1550	c.188G>T	c.(187-189)aGc>aTc	p.S63I	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S10I	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	63					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAACTTCAGCATGGCCACC	0.463																																																	0													161	133	142					11																	57449977		2201	4296	6497	SO:0001583	missense	0			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.188G>T	11.37:g.57449977G>T	ENSP00000287169:p.Ser63Ile		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.S63I	ENST00000287169.3	37	c.188	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689185	0.88735	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	D;D	0.86164	-2.08;-2.08	4.96	4.96	0.65561	.	0.248398	0.49305	D	0.000158	D	0.87095	0.6092	N	0.16201	0.385	0.48040	D	0.99957	D	0.67145	0.996	D	0.72625	0.978	D	0.84849	0.0812	10	0.20519	T	0.43	-7.4882	17.9903	0.89166	0.0:0.0:1.0:0.0	.	63	Q9C0B5	ZDHC5_HUMAN	I	10;63	ENSP00000432202:S10I;ENSP00000287169:S63I	ENSP00000287169:S63I	S	+	2	0	ZDHHC5	57206553	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.388000	0.79795	2.579000	0.87056	0.561000	0.74099	AGC	ZDHHC5	-	NULL	ENSG00000156599		0.463	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1	-	0	73	0	G	NM_015457		57449977	1	tier1	-	no_errors	ENST00000287169	ensembl	human	known	74_37	missense	27.37	69	26	SNP	1.000	T	T	57449977	G	T	57449977	3	4	11	1	0	0	0	0	1	0	0	0	17666	971	34	3	194	3	ZDHHC5	11	57449977	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	364628	57449977	77556539	132	3000											
C11orf9	745	genome.wustl.edu	37	chr11	61541625	61541625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctatctgaagctgcaCggagtgaaggcaagtttggg	9	11	14	7	1	2	2	0	2	2	0	2	3	2	3	0	3	3	5	0	3	4	3	rs370594037		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:61541625C>T	ENST00000278836.5	+	8	1398	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	MYRF_ENST00000327797.1_Silent_p.H61H|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.H425H	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	434					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAAGCTGCACGGAGTGAAGG	0.592																																																	0													33	31	31					11																	61541625		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1302C>T	11.37:g.61541625C>T			O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.H434	ENST00000278836.5	37	c.1302	CCDS44622.1	11																																																																																			MYRF	-	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	ENSG00000124920		0.592	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2	-	0	31	0	C	NM_013279		61541625	1	tier1	-	no_errors	ENST00000278836	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.953	T	T	61541625	C	T	61541625	2	4	11	1	0	0	0	0	0	0	0	1	1676	535	19	1		1	C11orf9	11	61541625	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	4091648	61541625	73464891	133	3001											
FEN1	2237	genome.wustl.edu	37	chr11	61563118	61563118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccacagctcaagtcaggCgagctggccaaacgcagtga	11	4	12	14	3	2	1	2	1	0	0	2	2	2	1	3	2	3	3	3	2	2	0	rs371846488		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:61563118C>T	ENST00000305885.2	+	2	698	c.285C>T	c.(283-285)ggC>ggT	p.G95G	FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TCAAGTCAGGCGAGCTGGCCA	0.597								Editing and processing nucleases																																									0								C		0,4404		0,0,2202	42	45	44		285	-10.9	0	11		44	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	FEN1	NM_004111.5		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		95/381	61563118	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"maturation factor-1", "DNase IV"	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.285C>T	11.37:g.61563118C>T				Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.G95	ENST00000305885.2	37	c.285	CCDS8010.1	11																																																																																			FEN1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPG/Rad2	ENSG00000168496		0.597	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398526.1		0	21	0	C	NM_004111		61563118	1			no_errors	ENST00000305885	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.000	T	T	61563118	C	T	61563118	2	4	11	1	0	0	0	0	0	0	0	1	5834	755	27	1		1	FEN1	11	61563118	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	21493	61563118	73443398	134	3002											
SCGB2A1	4246	genome.wustl.edu	37	chr11	61978031	61978031	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaagcagtgtttcctcAaccagtcacatagaactctg	13	11	6	11	0	4	1	3	0	1	1	5	1	5	1	2	0	3	2	2	0	5	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:61978031A>G	ENST00000244930.4	+	2	266	c.202A>G	c.(202-204)Aac>Gac	p.N68D	RP11-703H8.9_ENST00000529875.1_RNA	NM_002407.2	NP_002398.1	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1	68					androgen receptor signaling pathway (GO:0030521)	extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTGTTTCCTCAACCAGTCACA	0.423																																																	0													114	110	112					11																	61978031		2202	4299	6501	SO:0001583	missense	0			AF071219	CCDS8016.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000124939	ENSG00000124939		"Secretoglobins"	7051	protein-coding gene	gene with protein product	"lipophilin C", "mammaglobin B", "lacryglobin"	604398	"mammaglobin 2"	MGB2		9806831, 22155607	Standard	NM_002407		Approved	UGB3, LPHC, MGC71973	uc001nta.2	O75556	OTTHUMG00000167506	ENST00000244930.4:c.202A>G	11.37:g.61978031A>G	ENSP00000244930:p.Asn68Asp			Missense_Mutation	SNP	pfam_Secretoglobin,superfamily_Secretoglobin	p.N68D	ENST00000244930.4	37	c.202	CCDS8016.1	11	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.421026	0.01126	.	.	ENSG00000124939	ENST00000244930	T	0.13657	2.57	3.68	-1.65	0.08291	.	.	.	.	.	T	0.05456	0.0144	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44375	-0.9332	8	0.13470	T	0.59	.	3.9128	0.09210	0.4006:0.3762:0.2231:0.0	.	68	O75556	SG2A1_HUMAN	D	68	ENSP00000244930:N68D	ENSP00000244930:N68D	N	+	1	0	SCGB2A1	61734607	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.210000	0.09345	-0.309000	0.08779	0.528000	0.53228	AAC	SCGB2A1	-	pfam_Secretoglobin,superfamily_Secretoglobin	ENSG00000124939		0.423	SCGB2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB2A1	HGNC	protein_coding	OTTHUMT00000394857.1	-	0	52	0	A	NM_002407		61978031	1	tier1	-	no_errors	ENST00000244930	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	G	G	61978031	A	G	61978031	3	3	11	1	0	0	0	0	1	0	0	0	13944	130	5	4	208	4	SCGB2A1	11	61978031	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	414913	61978031	73028485	135	3003											
ATG2A	23130	genome.wustl.edu	37	chr11	64678099	64678099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttaccttaggcacacGgcgcaggatctgtgtgtggc	6	10	16	9	2	1	0	0	0	1	0	1	1	1	1	1	5	1	3	1	5	2	2	rs140600460		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:64678099G>A	ENST00000377264.3	-	12	1808	c.1696C>T	c.(1696-1698)Cgt>Tgt	p.R566C	ATG2A_ENST00000421419.2_Missense_Mutation_p.R566C	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	566					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTAGGCACACGGCGCAGGATC	0.687																																																	0								G	CYS/ARG	1,4395		0,1,2197	56	52	53		1696	3	0.7	11	dbSNP_134	53	0,8586		0,0,4293	no	missense	ATG2A	NM_015104.2	180	0,1,6490	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	566/1939	64678099	1,12981	2198	4293	6491	SO:0001583	missense	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1696C>T	11.37:g.64678099G>A	ENSP00000366475:p.Arg566Cys		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R566C	ENST00000377264.3	37	c.1696	CCDS31602.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.93|17.93	3.508198|3.508198	0.64410|0.64410	2.27E-4|2.27E-4	0.0|0.0	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07800	.|3.16;3.16	4.97|4.97	3.05|3.05	0.35203|0.35203	.|.	.|0.210689	.|0.39475	.|N	.|0.001359	T|T	0.11965|0.11965	0.0291|0.0291	L|L	0.53249|0.53249	1.67|1.67	0.38270|0.38270	D|D	0.942135|0.942135	.|D	.|0.67145	.|0.996	.|P	.|0.47528	.|0.549	T|T	0.07309|0.07309	-1.0779|-1.0779	5|10	.|0.46703	.|T	.|0.11	.|.	10.6036|10.6036	0.45381|0.45381	0.0:0.0:0.6504:0.3496|0.0:0.0:0.6504:0.3496	.|.	.|566	.|Q2TAZ0	.|ATG2A_HUMAN	L|C	367|566	.|ENSP00000410522:R566C;ENSP00000366475:R566C	.|ENSP00000366475:R566C	P|R	-|-	2|1	0|0	ATG2A|ATG2A	64434675|64434675	0.994000|0.994000	0.37717|0.37717	0.703000|0.703000	0.30354|0.30354	0.797000|0.797000	0.45037|0.45037	2.270000|2.270000	0.43355|0.43355	0.577000|0.577000	0.29470|0.29470	0.462000|0.462000	0.41574|0.41574	CCG|CGT	ATG2A	-	NULL	ENSG00000110046		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	-	0	69	0	G	NM_015104		64678099	-1	tier1	rs140600460	no_errors	ENST00000421419	ensembl	human	known	74_37	missense	32.11	73	35	SNP	0.964	A	A	64678099	G	A	64678099	3	1	11	1	0	0	0	0	1	0	0	0	1094	1116	39	1	4240	1	ATG2A	11	64678099	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2700068	64678099	70328417	136	3004											
CPT1A	1374	genome.wustl.edu	37	chr11	68530168	68530168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcgcacggtctccgtcCtcccctctcggaagagccgg	6	6	13	16	5	2	1	0	0	2	1	6	3	4	3	5	4	2	1	5	4	1	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:68530168C>T	ENST00000265641.5	-	15	1956	c.1802G>A	c.(1801-1803)aGg>aAg	p.R601K	CPT1A_ENST00000540367.1_Missense_Mutation_p.R601K|CPT1A_ENST00000539743.1_Missense_Mutation_p.R601K|CPT1A_ENST00000376618.2_Missense_Mutation_p.R601K|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	601					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTCTCCGTCCTCCCCTCTCG	0.612																																																	0													73	64	67					11																	68530168		2200	4294	6494	SO:0001583	missense	0			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1802G>A	11.37:g.68530168C>T	ENSP00000265641:p.Arg601Lys		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R601K	ENST00000265641.5	37	c.1802	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000625	0.93227	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.97455	-4.39;-4.39;-4.39;-4.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.98454	0.9485	H	0.98629	4.285	0.80722	D	1	B;B	0.29671	0.254;0.214	B;B	0.35971	0.215;0.207	D	0.98951	1.0794	10	0.87932	D	0	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	601;601	P50416;P50416-2	CPT1A_HUMAN;.	K	601	ENSP00000439084:R601K;ENSP00000365803:R601K;ENSP00000265641:R601K;ENSP00000446108:R601K	ENSP00000265641:R601K	R	-	2	0	CPT1A	68286744	1.000000	0.71417	0.975000	0.42487	0.950000	0.60333	7.354000	0.79424	2.610000	0.88304	0.655000	0.94253	AGG	CPT1A	-	pfam_Carn_acyl_trans	ENSG00000110090		0.612	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	-	0	38	0	C	NM_001876		68530168	-1	tier1	-	no_errors	ENST00000265641	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	68530168	C	T	68530168	3	4	11	1	0	0	0	0	1	0	0	0	3838	681	24	3	579	3	CPT1A	11	68530168	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	3852069	68530168	66476348	137	3005											
UCP3	7352	genome.wustl.edu	37	chr11	73715552	73715552	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaggtggtagtccagcAgcttctccttgaggatgtcg	7	11	14	9	1	1	2	0	2	1	0	4	3	2	3	2	3	3	4	2	3	1	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:73715552A>C	ENST00000314032.4	-	5	1172	c.620T>G	c.(619-621)cTg>cGg	p.L207R	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000426995.2_Missense_Mutation_p.L207R|UCP3_ENST00000348534.4_Intron	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	207					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GTAGTCCAGCAGCTTCTCCTT	0.597																																																	0													149	111	124					11																	73715552		2200	4293	6493	SO:0001583	missense	0			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.620T>G	11.37:g.73715552A>C	ENSP00000323740:p.Leu207Arg		O60475|Q96HL3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.L207R	ENST00000314032.4	37	c.620	CCDS8229.1	11	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891853	0.91889	.	.	ENSG00000175564	ENST00000314032;ENST00000426995	D;D	0.83163	-1.69;-1.69	5.82	5.82	0.92795	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92714	0.7684	M	0.92784	3.345	0.80722	D	1	P	0.48230	0.907	D	0.63597	0.916	D	0.94140	0.7396	10	0.87932	D	0	-8.1021	15.1554	0.72735	1.0:0.0:0.0:0.0	.	207	P55916	UCP3_HUMAN	R	207	ENSP00000323740:L207R;ENSP00000392143:L207R	ENSP00000323740:L207R	L	-	2	0	UCP3	73393200	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.263000	0.95617	2.228000	0.72767	0.533000	0.62120	CTG	UCP3	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom	ENSG00000175564		0.597	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	HGNC	protein_coding	OTTHUMT00000398200.1	-	0	61	0	A	NM_003356		73715552	-1	tier1	-	no_errors	ENST00000314032	ensembl	human	known	74_37	missense	59.15	29	42	SNP	1.000	C	C	73715552	A	C	73715552	3	2	11	1	0	0	0	0	1	0	0	0	16981	188	7	4	334	4	UCP3	11	73715552	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	5185384	73715552	61290964	138	3006											
MTNR1B	4544	genome.wustl.edu	37	chr11	92703096	92703096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccgtgctcaggaacCgcaagctccggaacgcaggt	8	7	11	15	4	2	0	1	0	1	0	5	2	4	2	4	3	4	4	4	3	3	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:92703096C>T	ENST00000257068.2	+	1	211	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	69					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCTCAGGAACCGCAAGCTCCG	0.642																																																	0													35	27	30					11																	92703096		2199	4289	6488	SO:0001583	missense	0			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.205C>T	11.37:g.92703096C>T	ENSP00000257068:p.Arg69Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.R69C	ENST00000257068.2	37	c.205	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	5.800	0.331825	0.10956	.	.	ENSG00000134640	ENST00000257068	T	0.42131	0.98	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.089631	0.44097	D	0.000484	T	0.73806	0.3634	H	0.95574	3.69	0.52501	D	0.999959	D	0.89917	1.0	D	0.71414	0.973	T	0.83150	-0.0104	10	0.87932	D	0	-13.1237	15.5445	0.76086	0.0:1.0:0.0:0.0	.	69	P49286	MTR1B_HUMAN	C	69	ENSP00000257068:R69C	ENSP00000257068:R69C	R	+	1	0	MTNR1B	92342744	0.757000	0.28394	0.998000	0.56505	0.031000	0.12232	-0.127000	0.10547	2.185000	0.69588	0.650000	0.86243	CGC	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000134640		0.642	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	-	0	63	0	C			92703096	1	tier1	-	no_errors	ENST00000257068	ensembl	human	known	74_37	missense	23.29	56	17	SNP	1.000	T	T	92703096	C	T	92703096	3	4	11	1	0	0	0	0	1	0	0	0	9990	652	23	1	207	1	MTNR1B	11	92703096	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	18987544	92703096	42303420	139	3007											
CASP1	834	genome.wustl.edu	37	chr11	104904982	104904982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaactgtcttcttcacaaAtgtatgtgatgcaaatttgg	11	15	9	6	0	3	1	1	1	2	0	3	1	3	1	0	2	2	3	0	2	4	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:104904982A>C	ENST00000533400.1	-	2	262	c.227T>G	c.(226-228)aTt>aGt	p.I76S	CASP1_ENST00000446369.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.I76S|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.I76S|CASP1_ENST00000528974.1_Missense_Mutation_p.I37S|CASP1_ENST00000525825.1_Missense_Mutation_p.I76S|CASP1_ENST00000598974.1_Missense_Mutation_p.I76S|CASP1_ENST00000593315.1_Missense_Mutation_p.I76S|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.I60S|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000594519.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	76	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TTCTTCACAAATGTATGTGAT	0.478																																					NSCLC(41;1246 1743 4934)												0													173	156	161					11																	104904982		2202	4297	6499	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.227T>G	11.37:g.104904982A>C	ENSP00000433138:p.Ile76Ser		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.I76S	ENST00000533400.1	37	c.227	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	16.44	3.124657	0.56613	.	.	ENSG00000137752	ENST00000527979;ENST00000533400;ENST00000436863;ENST00000393136;ENST00000525825;ENST00000528974	T;T;T;T;T;T	0.51071	0.72;2.21;2.21;2.21;2.21;0.72	4.83	4.83	0.62350	DEATH-like (2);Caspase Recruitment (3);	0.356141	0.27442	N	0.019342	T	0.70465	0.3227	M	0.85197	2.74	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999	D;D;D;D;D	0.85130	0.997;0.995;0.986;0.995;0.986	T	0.65565	-0.6137	10	0.87932	D	0	.	12.6423	0.56716	1.0:0.0:0.0:0.0	.	76;37;76;76;60	B4DKN4;B4DVD8;P29466-2;P29466;G3V169	.;.;.;CASP1_HUMAN;.	S	60;76;76;76;76;37	ENSP00000432340:I60S;ENSP00000433138:I76S;ENSP00000410076:I76S;ENSP00000376844:I76S;ENSP00000434779:I76S;ENSP00000434259:I37S	ENSP00000376844:I76S	I	-	2	0	CASP1	104410192	0.232000	0.23762	0.012000	0.15200	0.016000	0.09150	5.182000	0.65059	1.931000	0.55961	0.455000	0.32223	ATT	CASP1	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137752		0.478	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	-	0	128	0	A	NM_033292		104904982	-1	tier1	-	no_errors	ENST00000436863	ensembl	human	known	74_37	missense	53.80	85	99	SNP	0.011	C	C	104904982	A	C	104904982	3	2	11	1	0	0	0	0	1	0	0	0	2675	101	4	4	1019	4	CASP1	11	104904982	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	12201886	104904982	30101534	140	3008											
OR10G4	390264	genome.wustl.edu	37	chr11	123886648	123886648	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtcctatgatcgctacTtggccatcagttacccgctc	7	13	7	14	2	2	1	2	1	0	0	5	1	3	1	3	1	2	3	3	1	3	4	rs397832341	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:123886648T>G	ENST00000320891.4	+	1	367	c.367T>G	c.(367-369)Ttg>Gtg	p.L123V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGATCGCTACTTGGCCATCAG	0.567																																																	0																																										SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.367T>G	11.37:g.123886648T>G	ENSP00000325076:p.Leu123Val		Q6IEW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L123V	ENST00000320891.4	37	c.367	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	t	1.406	-0.576724	0.03854	.	.	ENSG00000254737	ENST00000320891	T	0.02067	4.47	3.48	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36555	N	0.002534	T	0.00552	0.0018	N	0.00327	-1.64	0.27919	N	0.938337	B	0.24651	0.108	B	0.27076	0.076	T	0.44050	-0.9353	10	0.02654	T	1	.	2.2181	0.03965	0.1526:0.503:0.1495:0.1949	.	123	Q8NGN3	O10G4_HUMAN	V	123	ENSP00000325076:L123V	ENSP00000325076:L123V	L	+	1	2	OR10G4	123391858	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.495000	0.02294	0.823000	0.34589	-0.204000	0.12730	TTG	OR10G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000254737		0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1		0	53	0	T	NM_001004462		123886648	1			no_errors	ENST00000320891	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.994	G	G	123886648	T	G	123886648	3	3	11	1	0	0	0	0	1	0	0	0	10940	1606	56	4	369	4	OR10G4	11	123886648	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	18981666	123886648	11119868	141	3009											
OR10G9	219870	genome.wustl.edu	37	chr11	123894086	123894086	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtcctatgatcgctacTtggccatcagttacccgctc	7	13	7	14	2	2	1	2	1	0	0	5	1	3	1	3	1	2	3	3	1	3	4	rs397832339	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:123894086T>G	ENST00000375024.1	+	1	367	c.367T>G	c.(367-369)Ttg>Gtg	p.L123V		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGATCGCTACTTGGCCATCAG	0.557																																																	0													40	38	39					11																	123894086		2201	4282	6483	SO:0001583	missense	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.367T>G	11.37:g.123894086T>G	ENSP00000364164:p.Leu123Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L123V	ENST00000375024.1	37	c.367	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.195170	0.01594	.	.	ENSG00000236981	ENST00000375024	T	0.02067	4.47	3.33	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36665	N	0.002468	T	0.01029	0.0034	N	0.04148	-0.265	0.29353	N	0.865203	B	0.24651	0.108	B	0.27076	0.076	T	0.46400	-0.9194	10	0.02654	T	1	.	6.1506	0.20310	0.0:0.6509:0.1461:0.203	.	123	Q8NGN4	O10G9_HUMAN	V	123	ENSP00000364164:L123V	ENSP00000364164:L123V	L	+	1	2	OR10G9	123399296	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-1.383000	0.02544	0.251000	0.21505	-0.716000	0.03619	TTG	OR10G9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000236981		0.557	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1		0	59	0	T	NM_001001953		123894086	1			no_errors	ENST00000375024	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.996	G	G	123894086	T	G	123894086	3	3	11	1	0	0	0	0	1	0	0	0	10943	1606	56	4	369	4	OR10G9	11	123894086	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	7438	123894086	11112430	142	3010											
GLB1L3	112937	genome.wustl.edu	37	chr11	134179592	134179592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatatgttccatggtggaaCcaactttggtttcatgaacg	11	14	9	7	1	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	5	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr11:134179592C>G	ENST00000431683.2	+	11	1034	c.1034C>G	c.(1033-1035)aCc>aGc	p.T345S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	345					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATGGTGGAACCAACTTTGGT	0.468																																																	0													87	83	84					11																	134179592		1921	4107	6028	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1034C>G	11.37:g.134179592C>G	ENSP00000396615:p.Thr345Ser		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.T345S	ENST00000431683.2	37	c.1034	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261821	0.59431	.	.	ENSG00000166105	ENST00000431683	D	0.99136	-5.47	4.76	3.84	0.44239	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.225081	0.45126	D	0.000397	D	0.99055	0.9676	M	0.84585	2.705	0.46499	D	0.999077	D;D	0.76494	0.999;0.995	D;D	0.72982	0.976;0.979	D	0.98446	1.0589	10	0.66056	D	0.02	.	8.1902	0.31363	0.0:0.8938:0.0:0.1062	.	6;345	Q8NCI6-2;Q8NCI6	.;GLBL3_HUMAN	S	345	ENSP00000396615:T345S	ENSP00000396615:T345S	T	+	2	0	GLB1L3	133684802	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.865000	0.56033	2.619000	0.88677	0.455000	0.32223	ACC	GLB1L3	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35	ENSG00000166105		0.468	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0	60	0	C	NM_138416		134179592	1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	missense	63.10	31	53	SNP	1.000	G	G	134179592	C	G	134179592	3	3	11	1	0	0	0	0	1	0	0	0	6456	507	18	5	1076	5	GLB1L3	11	134179592	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	10285506	134179592	826924	143	3011											
C12orf4	57102	genome.wustl.edu	37	chr12	4639200	4639200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgggttcttcaggccttGcatgctctaacgtggtctac	6	13	11	11	1	4	0	1	0	3	0	4	0	4	0	1	3	5	4	1	3	2	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:4639200G>A	ENST00000261250.3	-	4	428	c.341C>T	c.(340-342)gCa>gTa	p.A114V	C12orf4_ENST00000545746.1_Missense_Mutation_p.A114V	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	114										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTCAGGCCTTGCATGCTCTAA	0.348																																																	0													91	87	89					12																	4639200		2203	4300	6503	SO:0001583	missense	0			AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.341C>T	12.37:g.4639200G>A	ENSP00000261250:p.Ala114Val		D3DUQ8|Q6MZH5	Missense_Mutation	SNP	pfam_DUF2362	p.A114V	ENST00000261250.3	37	c.341	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214626	0.58452	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000542080	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.71036	2.16	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	T	0.71826	-0.4475	9	0.66056	D	0.02	.	17.4701	0.87643	0.0:0.0:1.0:0.0	.	114	Q9NQ89	CL004_HUMAN	V	114;114;67	.	ENSP00000261250:A114V	A	-	2	0	C12orf4	4509461	1.000000	0.71417	0.346000	0.25655	0.521000	0.34408	7.424000	0.80242	2.615000	0.88500	0.650000	0.86243	GCA	C12orf4	-	pfam_DUF2362	ENSG00000047621		0.348	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	HGNC	protein_coding	OTTHUMT00000398992.1	-	0	69	0	G	NM_020374		4639200	-1	tier1	-	no_errors	ENST00000261250	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.996	A	A	4639200	G	A	4639200	3	1	11	1	0	0	0	0	1	0	0	0	1690	1319	46	3	1361	3	C12orf4	12	4639200	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		4639200	129212695	144	3012											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18552745	18552745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgagaagatggacattttCtcaacctttagaggctcttg	10	15	9	7	0	2	3	1	1	2	3	3	5	2	4	1	2	1	1	1	2	3	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:18552745C>G	ENST00000266497.5	+	14	2194	c.2156C>G	c.(2155-2157)tCt>tGt	p.S719C	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S719C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S760C			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	719	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGGACATTTTCTCAACCTTTA	0.413																																																	0													73	71	72					12																	18552745		1843	4090	5933	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.2156C>G	12.37:g.18552745C>G	ENSP00000266497:p.Ser719Cys		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S760C	ENST00000266497.5	37	c.2279	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767735	0.49574	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.62941	-0.01;-0.01;-0.01	5.08	3.11	0.35812	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.176676	0.39341	N	0.001390	T	0.69540	0.3122	L	0.44542	1.39	0.34538	D	0.709927	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.983;0.99	T	0.77915	-0.2409	10	0.66056	D	0.02	-8.2506	11.044	0.47849	0.0:0.8249:0.0:0.1751	.	759;760;719	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	C	719;719;760	ENSP00000404845:S719C;ENSP00000266497:S719C;ENSP00000445381:S760C	ENSP00000266497:S719C	S	+	2	0	PIK3C2G	18444012	1.000000	0.71417	0.936000	0.37596	0.784000	0.44337	3.282000	0.51693	1.373000	0.46208	0.585000	0.79938	TCT	PIK3C2G	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000139144		0.413	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1	-	0	61	0	C	NM_004570		18552745	1	tier1	-	no_errors	ENST00000538779	ensembl	human	known	74_37	missense	36.27	65	37	SNP	0.993	G	G	18552745	C	G	18552745	3	3	11	1	0	0	0	0	1	0	0	0	11950	913	32	5	2210	5	PIK3C2G	12	18552745	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	13913545	18552745	115299150	145	3013											
ESPL1	9700	genome.wustl.edu	37	chr12	53666581	53666581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtgccatctctgagccGctctgtcagcacctgggttt	4	12	11	14	1	3	1	1	1	2	0	4	1	3	1	4	1	3	3	4	1	0	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:53666581G>A	ENST00000257934.4	+	6	1537	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	ESPL1_ENST00000552462.1_Silent_p.P482P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	482					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCTCTGAGCCGCTCTGTCAGC	0.522																																					Colon(53;1069 1201 2587 5382)												0													150	143	146					12																	53666581		2203	4300	6503	SO:0001819	synonymous_variant	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1446G>A	12.37:g.53666581G>A				Silent	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.P482	ENST00000257934.4	37	c.1446	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.522	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2		0	51	0	G	NM_012291		53666581	1			no_errors	ENST00000257934	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.902	A	A	53666581	G	A	53666581	2	1	11	1	0	0	0	0	0	0	0	1	5269	1074	38	1		1	ESPL1	12	53666581	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	35113836	53666581	80185314	146	3014											
ESYT1	23344	genome.wustl.edu	37	chr12	56524830	56524830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctctctccctagccattgCgcatcattggagtcaaggtt	7	14	8	12	1	4	0	2	0	2	0	6	1	4	1	2	2	2	2	2	2	2	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:56524830C>A	ENST00000394048.5	+	4	838	c.574C>A	c.(574-576)Cgc>Agc	p.R192S	ESYT1_ENST00000267113.4_Missense_Mutation_p.R192S|ESYT1_ENST00000541590.1_Missense_Mutation_p.R192S|RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	192	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTAGCCATTGCGCATCATTGG	0.532																																																	0													139	127	131					12																	56524830		2203	4300	6503	SO:0001583	missense	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.574C>A	12.37:g.56524830C>A	ENSP00000377612:p.Arg192Ser		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.R192S	ENST00000394048.5	37	c.574	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842101	0.71488	.	.	ENSG00000139641	ENST00000551790;ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.72	3.85	0.44370	.	0.054279	0.64402	D	0.000001	T	0.40570	0.1122	M	0.66506	2.035	0.38445	D	0.946801	D;D	0.63046	0.992;0.983	P;P	0.61533	0.89;0.694	T	0.44221	-0.9342	10	0.72032	D	0.01	-14.8167	13.3623	0.60663	0.5103:0.4897:0.0:0.0	.	192;192	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	S	71;192;146;192;192	ENSP00000447756:R71S;ENSP00000377612:R192S;ENSP00000267113:R192S;ENSP00000445952:R192S	ENSP00000267113:R192S	R	+	1	0	ESYT1	54811097	1.000000	0.71417	0.928000	0.36995	0.555000	0.35460	1.947000	0.40293	0.836000	0.34901	0.563000	0.77884	CGC	ESYT1	-	NULL	ENSG00000139641		0.532	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	-	0	57	0	C	NM_015292		56524830	1	tier1	-	no_errors	ENST00000267113	ensembl	human	known	74_37	missense	55.06	38	49	SNP	1.000	A	A	56524830	C	A	56524830	3	1	11	1	0	0	0	0	1	0	0	0	5280	768	27	2	588	2	ESYT1	12	56524830	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	2858249	56524830	77327065	147	3015											
MARS	4141	genome.wustl.edu	37	chr12	57905572	57905572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcacccgttcttggcttcGggatggcctcaagccacgct	6	11	10	14	3	3	0	2	0	1	0	4	1	3	1	3	3	1	3	3	3	2	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:57905572G>T	ENST00000262027.5	+	12	1594	c.1460G>T	c.(1459-1461)cGg>cTg	p.R487L	MARS_ENST00000447721.2_3'UTR|RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.R253L|RNU6-594P_ENST00000517056.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	487					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCTTGGCTTCGGGATGGCCTC	0.512																																																	0													99	82	88					12																	57905572		2203	4300	6503	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1460G>T	12.37:g.57905572G>T	ENSP00000262027:p.Arg487Leu		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.R487L	ENST00000262027.5	37	c.1460	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729914	0.89390	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.45276	1.43;0.9	5.19	5.19	0.71726	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.82193	2.58	0.80722	D	1	P;D;D	0.64830	0.661;0.994;0.958	B;D;P	0.69654	0.247;0.965;0.804	T	0.72620	-0.4238	10	0.72032	D	0.01	-17.1801	17.8698	0.88808	0.0:0.0:1.0:0.0	.	253;360;487	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	L	487;253	ENSP00000262027:R487L;ENSP00000314653:R253L	ENSP00000262027:R487L	R	+	2	0	MARS	56191839	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	9.202000	0.95026	2.596000	0.87737	0.491000	0.48974	CGG	MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth	ENSG00000166986		0.512	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	-	0	57	0	G	NM_004990		57905572	1	tier1	-	no_errors	ENST00000262027	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	57905572	G	T	57905572	3	4	11	1	0	0	0	0	1	0	0	0	9354	1116	39	2	1506	2	MARS	12	57905572	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	1380742	57905572	75946323	148	3016											
SLC26A10	65012	genome.wustl.edu	37	chr12	58017820	58017820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaacatctccagcatgcGccaggtgttctgccagatgc	9	9	9	14	1	3	1	1	0	2	1	4	1	3	1	3	1	5	2	3	1	1	1	rs369961371		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:58017820G>A	ENST00000320442.4	+	9	1477	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLC26A10_ENST00000379218.2_Missense_Mutation_p.R389H	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	389						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCCAGCATGCGCCAGGTGTTC	0.557																																																	0								G	HIS/ARG	1,4405		0,1,2202	171	155	160		1166	4.3	1	12		160	0,8600		0,0,4300	no	missense	SLC26A10	NM_133489.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	389/564	58017820	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"Solute carriers"	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1166G>A	12.37:g.58017820G>A	ENSP00000320217:p.Arg389His		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R389H	ENST00000320442.4	37	c.1166	CCDS8949.2	12	.	.	.	.	.	.	.	.	.	.	.	28.3	4.911104	0.92178	2.27E-4	0.0	ENSG00000240771;ENSG00000135502;ENSG00000135502	ENST00000300189;ENST00000320442;ENST00000379218	D;D	0.93019	-3.15;-3.15	4.3	4.3	0.51218	Sulphate transporter (1);	.	.	.	.	D	0.95169	0.8434	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95225	0.8337	9	0.72032	D	0.01	.	15.0858	0.72151	0.0:0.0:1.0:0.0	.	389	Q8NG04	S2610_HUMAN	H	261;389;389	ENSP00000320217:R389H;ENSP00000368520:R389H	ENSP00000300189:R261H	R	+	2	0	ARHGEF25;SLC26A10	56304087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.254000	0.72460	2.664000	0.90586	0.655000	0.94253	CGC	SLC26A10	-	pfam_Sulph_transpt	ENSG00000135502		0.557	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	HGNC	protein_coding	OTTHUMT00000250311.2	-	0	50	0	G			58017820	1	tier1	-	no_errors	ENST00000320442	ensembl	human	known	74_37	missense	81.40	8	35	SNP	1.000	A	A	58017820	G	A	58017820	3	1	11	1	0	0	0	0	1	0	0	0	14560	1087	38	1	1200	1	SLC26A10	12	58017820	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	112248	58017820	75834075	149	3017											
NUP107	57122	genome.wustl.edu	37	chr12	69084420	69084420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtttatagttaccccaaCaagccgaagcttactaaggc	12	12	7	10	1	0	0	0	0	0	0	0	1	0	0	3	1	5	3	3	1	8	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:69084420C>G	ENST00000229179.4	+	4	529	c.197C>G	c.(196-198)aCa>aGa	p.T66R	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.T37R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	66					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTACCCCAACAAGCCGAAGC	0.408																																																	0													91	91	91					12																	69084420		2203	4300	6503	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.197C>G	12.37:g.69084420C>G	ENSP00000229179:p.Thr66Arg		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.T66R	ENST00000229179.4	37	c.197	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	C	0.387	-0.925315	0.02377	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.57	-2.35	0.06684	.	0.748593	0.12586	N	0.455965	T	0.13798	0.0334	N	0.08118	0	0.09310	N	0.999997	B;B	0.16396	0.017;0.017	B;B	0.15484	0.013;0.007	T	0.27434	-1.0074	8	.	.	.	0.3372	5.1154	0.14831	0.2024:0.2708:0.0:0.5268	.	37;66	B4DZ67;P57740	.;NU107_HUMAN	R	66;37	.	.	T	+	2	0	NUP107	67370687	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.145000	0.16157	-0.106000	0.12110	-0.251000	0.11542	ACA	NUP107	-	NULL	ENSG00000111581		0.408	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0	46	0	C	NM_020401		69084420	1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.001	G	G	69084420	C	G	69084420	3	3	11	1	0	0	0	0	1	0	0	0	10792	478	17	5	211	5	NUP107	12	69084420	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	11066600	69084420	64767475	150	3018											
NAV3	89795	genome.wustl.edu	37	chr12	78400991	78400991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagaaattcaggactaccaAggggagcccttcccagtcct	11	8	10	12	0	1	1	1	1	0	1	3	4	3	3	4	3	2	0	4	3	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:78400991A>C	ENST00000397909.2	+	8	1846	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	NAV3_ENST00000266692.7_Missense_Mutation_p.K558T|NAV3_ENST00000228327.6_Missense_Mutation_p.K558T|NAV3_ENST00000536525.2_Missense_Mutation_p.K558T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	558						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGACTACCAAGGGGAGCCCT	0.483										HNSCC(70;0.22)																																							0													75	75	75					12																	78400991		1899	4119	6018	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1673A>C	12.37:g.78400991A>C	ENSP00000381007:p.Lys558Thr		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.K558T	ENST00000397909.2	37	c.1673		12	.	.	.	.	.	.	.	.	.	.	A	16.90	3.248977	0.59103	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	5.29	4.15	0.48705	.	0.000000	0.41823	U	0.000820	T	0.24890	0.0604	M	0.65498	2.005	0.80722	D	1	D;B	0.63880	0.993;0.241	P;B	0.52598	0.703;0.192	T	0.01218	-1.1415	10	0.66056	D	0.02	-16.1033	10.9368	0.47249	0.9264:0.0:0.0736:0.0	.	558;558	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	T	558	ENSP00000446628:K558T;ENSP00000446132:K558T;ENSP00000381007:K558T;ENSP00000228327:K558T;ENSP00000266692:K558T	ENSP00000228327:K558T	K	+	2	0	NAV3	76925122	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.041000	0.70988	0.863000	0.35553	-0.256000	0.11100	AAG	NAV3	-	NULL	ENSG00000067798		0.483	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	37	0	A	NM_001024383		78400991	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	87.23	6	41	SNP	1.000	C	C	78400991	A	C	78400991	3	2	11	1	0	0	0	0	1	0	0	0	10223	72	3	4	1703	4	NAV3	12	78400991	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	9316571	78400991	55450904	151	3019											
PPFIA2	8499	genome.wustl.edu	37	chr12	81655762	81655762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcctttgagtggctggtCaacatgagtatgtgcgaaca	9	11	12	9	1	1	2	1	2	0	0	2	3	2	2	2	2	3	2	2	2	3	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:81655762C>T	ENST00000549396.1	-	32	3933	c.3773G>A	c.(3772-3774)tGa>tAa	p.*1258*	PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.*444*|PPFIA2_ENST00000552948.1_Silent_p.*1237*|PPFIA2_ENST00000550584.2_Intron|PPFIA2_ENST00000333447.7_Intron|PPFIA2_ENST00000548586.1_Silent_p.*1252*|PPFIA2_ENST00000550359.2_Silent_p.*1105*|PPFIA2_ENST00000443686.3_Silent_p.*1153*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Intron|PPFIA2_ENST00000407050.4_Silent_p.*1157*	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	0					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AGTGGCTGGTCAACATGAGTA	0.428																																																	0													29	34	32					12																	81655762		1954	4154	6108	SO:0001819	synonymous_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3773G>A	12.37:g.81655762C>T			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.*1258	ENST00000549396.1	37	c.3773	CCDS55857.1	12																																																																																			PPFIA2	-	NULL	ENSG00000139220		0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	25	0	C			81655762	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	silent	26.53	36	13	SNP	1.000	T	T	81655762	C	T	81655762	2	4	11	1	0	0	0	0	0	0	0	1	12349	837	29	3		3	PPFIA2	12	81655762	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	3254771	81655762	52196133	152	3020											
CCDC63	160762	genome.wustl.edu	37	chr12	111296453	111296453	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactgttgagtctcatgaaAtcctcgaggaacatgaatcg	12	11	9	9	2	1	3	1	3	1	0	5	5	2	4	1	1	2	1	1	1	4	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:111296453A>G	ENST00000308208.5	+	4	485	c.243A>G	c.(241-243)aaA>aaG	p.K81K	CCDC63_ENST00000545036.1_Silent_p.K41K|CCDC63_ENST00000552694.1_Silent_p.K2K|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	81										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GTCTCATGAAATCCTCGAGGA	0.478																																																	0													119	108	112					12																	111296453		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.243A>G	12.37:g.111296453A>G			B4DY03|Q0P603|Q6P2E1	Silent	SNP	NULL	p.K81	ENST00000308208.5	37	c.243	CCDS9151.1	12																																																																																			CCDC63	-	NULL	ENSG00000173093		0.478	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	-	0	41	0	A	NM_152591		111296453	1	tier1	-	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	88.10	5	37	SNP	0.980	G	G	111296453	A	G	111296453	2	3	11	1	0	0	0	0	0	0	0	1	2841	98	4	4		4	CCDC63	12	111296453	Silent	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	29640691	111296453	22555442	153	3021											
RFC5	5985	genome.wustl.edu	37	chr12	118463597	118463597	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcactagtcactctttcCagtggagacatgcgtagggc	11	9	11	10	1	2	1	1	0	1	1	3	2	3	1	1	2	2	2	1	2	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr12:118463597C>A	ENST00000454402.2	+	7	745	c.627C>A	c.(625-627)tcC>tcA	p.S209S	RFC5_ENST00000392542.2_Silent_p.S188S|RFC5_ENST00000229043.3_Silent_p.S124S	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	209					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCACTCTTTCCAGTGGAGACA	0.413																																																	0													131	127	128					12																	118463597		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.627C>A	12.37:g.118463597C>A			A8MZ62|B3KSX8	Silent	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.S209	ENST00000454402.2	37	c.627	CCDS9185.1	12																																																																																			RFC5	-	superfamily_P-loop_NTPase	ENSG00000111445		0.413	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2		0	48	0	C	NM_007370		118463597	1			no_errors	ENST00000454402	ensembl	human	known	74_37	silent	5.17	55	3	SNP	1.000	A	A	118463597	C	A	118463597	2	1	11	1	0	0	0	0	0	0	0	1	13293	581	21	3		3	RFC5	12	118463597	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	7167144	118463597	15388298	154	3022											
IFT88	8100	genome.wustl.edu	37	chr13	21157104	21157104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcattttaggaattggaGaatgatgcagcttttcagca	11	16	9	5	0	2	2	2	1	0	1	2	4	2	3	0	2	3	3	0	2	3	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:21157104G>T	ENST00000319980.6	+	5	453	c.126G>T	c.(124-126)gaG>gaT	p.E42D	IFT88_ENST00000537103.1_Missense_Mutation_p.E33D|IFT88_ENST00000351808.5_Missense_Mutation_p.E33D|IFT88_ENST00000382778.4_Missense_Mutation_p.E42D	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	42					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AGGAATTGGAGAATGATGCAG	0.343																																																	0													114	117	116					13																	21157104		2203	4300	6503	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.126G>T	13.37:g.21157104G>T	ENSP00000323580:p.Glu42Asp		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E42D	ENST00000319980.6	37	c.126	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695327	0.48202	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103;ENST00000540318;ENST00000389373	T;T;T;T	0.34472	1.44;1.46;1.46;1.36	5.08	0.235	0.15431	.	0.110769	0.64402	D	0.000011	T	0.31888	0.0811	N	0.13098	0.295	0.39750	D	0.971871	B;P	0.52842	0.008;0.956	B;D	0.65010	0.005;0.931	T	0.08889	-1.0700	10	0.15952	T	0.53	-19.5047	8.7523	0.34622	0.5197:0.0:0.4803:0.0	.	33;42	F5H6C2;Q13099	.;IFT88_HUMAN	D	42;33;42;33;33;33	ENSP00000372228:E42D;ENSP00000261632:E33D;ENSP00000323580:E42D;ENSP00000437719:E33D	ENSP00000323580:E42D	E	+	3	2	IFT88	20055104	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	0.799000	0.27028	0.015000	0.14971	0.655000	0.94253	GAG	IFT88	-	NULL	ENSG00000032742		0.343	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	-	0	50	0	G	NM_006531		21157104	1	tier1	-	no_errors	ENST00000319980	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.994	T	T	21157104	G	T	21157104	3	4	11	1	0	0	0	0	1	0	0	0	7593	933	33	3	136	3	IFT88	13	21157104	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		21157104	94012774	155	3023											
SPATA13	221178	genome.wustl.edu	37	chr13	24798141	24798141	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacacagccggctgcaTgacgactactcccgccgcgt	8	5	11	17	5	0	1	0	1	0	0	1	2	1	1	3	2	3	3	3	2	1	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:24798141T>A	ENST00000382095.4	+	2	185				RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.H358Q|SPATA13_ENST00000382108.3_Missense_Mutation_p.H358Q|SPATA13_ENST00000424834.2_Missense_Mutation_p.H358Q	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCGGCTGCATGACGACTACT	0.677																																																	0													15	21	19					13																	24798141		692	1591	2283	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25474T>A	13.37:g.24798141T>A			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.H358Q	ENST00000382095.4	37	c.1074	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.03|15.03	2.712290|2.712290	0.48517|0.48517	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	D|.	0.86769|.	-2.17|.	4.68|4.68	-4.2|-4.2	0.03823|0.03823	.|.	0.000000|.	0.39020|.	U|.	0.001485|.	T|.	0.49677|.	0.1571|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44952|.	-0.9294|.	8|.	0.45353|.	T|.	0.12|.	.|.	13.6586|13.6586	0.62352|0.62352	0.0:0.2524:0.0:0.7476|0.0:0.2524:0.0:0.7476	.|.	.|.	.|.	.|.	Q|R	358|396	ENSP00000371542:H358Q|.	ENSP00000371542:H358Q|.	H|X	+|+	3|1	2|0	SPATA13|SPATA13	23696141|23696141	0.938000|0.938000	0.31826|0.31826	0.560000|0.560000	0.28344|0.28344	0.163000|0.163000	0.22366|0.22366	-0.070000|-0.070000	0.11523|0.11523	-0.854000|-0.854000	0.04131|0.04131	-0.435000|-0.435000	0.05868|0.05868	CAT|TGA	SPATA13	-	NULL	ENSG00000182957		0.677	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0	83	0	T	NM_153023		24798141	1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	30.77	62	28	SNP	0.980	A	A	24798141	T	A	24798141	1	1	11	0	1	0	0	0	0	0	0	0	15047	1461	51	5		5	SPATA13	13	24798141	Intron	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	3641037	24798141	90371737	156	3024											
ALG5	29880	genome.wustl.edu	37	chr13	37563639	37563639	+	Frame_Shift_Del	DEL	T	T	-																															accattctaatcgctccaccTtttccacgattcttcaccag																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:37563639delT	ENST00000239891.3	-	5	495	c.429delA	c.(427-429)aaafs	p.K143fs	ALG5_ENST00000443765.1_Frame_Shift_Del_p.K113fs|ALG5_ENST00000413537.2_Frame_Shift_Del_p.K143fs|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	143					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCGCTCCACCTTTTCCACGAT	0.318																																																	0													106	100	102					13																	37563639		2203	4300	6503	SO:0001589	frameshift_variant	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"Glycosyltransferase family 2 domain containing"	20266	protein-coding gene	gene with protein product		604565	"asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)", "asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.429delA	13.37:g.37563639delT	ENSP00000239891:p.Lys143fs		B4DR37|Q5TBA6	Frame_Shift_Del	DEL	pfam_Glyco_trans_2	p.G144fs	ENST00000239891.3	37	c.429	CCDS9361.1	13																																																																																			ALG5	-	pfam_Glyco_trans_2	ENSG00000120697		0.318	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2		0	43	0	T	NM_013338		37563639	-1	tier1		no_errors	ENST00000239891	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	1.000	-	-	37563639	T	-	37563639	7	5	11	1	0	1	0	1	0	0	0	0	521	1606	56	0	569	0	ALG5	13	37563639	Frame_Shift_Del	DEL	T	TCGA-2H-A9GQ-01A-11D-A37C-09	12765498	37563639	77606239	157	3025											
CSNK1A1L	122011	genome.wustl.edu	37	chr13	37678734	37678734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcccttagtccttgccaCggcaggctggttctattaaa	9	12	9	11	1	1	0	0	0	1	0	2	0	2	0	3	3	2	3	3	3	5	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:37678734C>T	ENST00000379800.3	-	1	1069	c.660G>A	c.(658-660)ccG>ccA	p.P220P		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> L (in dbSNP:rs56252856). {ECO:0000269|PubMed:17344846}.		cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTCCTTGCCACGGCAGGCTGG	0.423																																																	0													102	102	102					13																	37678734		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.660G>A	13.37:g.37678734C>T			Q5T2N2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P220	ENST00000379800.3	37	c.660	CCDS9363.1	13																																																																																			CSNK1A1L	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000180138		0.423	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	-	0	67	0	C	NM_145203		37678734	-1	tier1	-	no_errors	ENST00000379800	ensembl	human	known	74_37	silent	68.81	34	75	SNP	0.957	T	T	37678734	C	T	37678734	2	4	11	1	0	0	0	0	0	0	0	1	3960	523	19	1		1	CSNK1A1L	13	37678734	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	115095	37678734	77491144	158	3026											
SETDB2	83852	genome.wustl.edu	37	chr13	50034315	50034315	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttttgaacaagtacaaaAtgtgctgcagtcactgaaac	15	11	7	8	0	1	2	1	2	0	0	1	2	1	2	0	0	5	3	0	0	6	3	rs138722347		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:50034315A>T	ENST00000317257.8	+	3	914	c.89A>T	c.(88-90)aAt>aTt	p.N30I	SETDB2_ENST00000258672.5_Missense_Mutation_p.N30I|SETDB2_ENST00000354234.4_Missense_Mutation_p.N30I	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	30					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		CAAGTACAAAATGTGCTGCAG	0.328																																																	0													95	102	100					13																	50034315		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.89A>T	13.37:g.50034315A>T	ENSP00000326477:p.Asn30Ile		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.N30I	ENST00000317257.8	37	c.89	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207846	0.58343	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.86627	-2.15;-2.15;1.15	5.46	1.75	0.24633	.	0.534814	0.23220	N	0.050571	D	0.83440	0.5255	N	0.24115	0.695	0.35344	D	0.786726	D;D;D	0.60160	0.98;0.987;0.987	P;P;P	0.57057	0.668;0.812;0.653	D	0.84076	0.0382	10	0.72032	D	0.01	.	6.5247	0.22295	0.7198:0.0:0.2802:0.0	.	30;30;30	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	I	30	ENSP00000346175:N30I;ENSP00000326477:N30I;ENSP00000258672:N30I	ENSP00000258672:N30I	N	+	2	0	SETDB2	48932316	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	0.913000	0.28611	0.464000	0.27142	-0.256000	0.11100	AAT	SETDB2	-	NULL	ENSG00000136169		0.328	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0	52	0	A	NM_031915		50034315	1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	45.00	33	27	SNP	1.000	T	T	50034315	A	T	50034315	3	4	11	1	0	0	0	0	1	0	0	0	14184	101	4	5	95	5	SETDB2	13	50034315	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	12355581	50034315	65135563	159	3027											
PCDH17	27253	genome.wustl.edu	37	chr13	58299185	58299185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgacagtcaatatctGtcacctagtaagcaaccaag	14	8	6	13	0	3	1	2	1	1	0	3	1	3	1	3	0	2	2	3	0	6	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr13:58299185G>T	ENST00000377918.3	+	4	3263	c.3237G>T	c.(3235-3237)ctG>ctT	p.L1079L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1079					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GTCAATATCTGTCACCTAGTA	0.532																																					Melanoma(72;952 1291 1619 12849 33676)												0													120	116	117					13																	58299185		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3237G>T	13.37:g.58299185G>T			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1079	ENST00000377918.3	37	c.3237	CCDS31986.1	13																																																																																			PCDH17	-	NULL	ENSG00000118946		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	41	0	G	NM_001040429		58299185	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	silent	29.63	38	16	SNP	1.000	T	T	58299185	G	T	58299185	2	4	11	1	0	0	0	0	0	0	0	1	11551	1364	48	3		3	PCDH17	13	58299185	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	8264870	58299185	56870693	160	3028											
OR4Q3	441669	genome.wustl.edu	37	chr14	20215952	20215952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagtcatggcctatgaCaggtatgttgccatctgtaa	10	12	10	9	0	2	2	1	2	1	0	2	2	2	2	2	2	1	3	2	2	3	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:20215952C>A	ENST00000331723.1	+	1	366	c.366C>A	c.(364-366)gaC>gaA	p.D122E		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCCTATGACAGGTATGTTG	0.502																																																	0													104	105	105					14																	20215952		2203	4299	6502	SO:0001583	missense	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.366C>A	14.37:g.20215952C>A	ENSP00000330049:p.Asp122Glu		Q6IEX4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D122E	ENST00000331723.1	37	c.366	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	14.85	2.658810	0.47467	.	.	ENSG00000182652	ENST00000331723	T	0.51817	0.69	4.36	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	U	0.000892	T	0.78220	0.4249	H	0.99726	4.73	0.28138	N	0.929921	D	0.89917	1.0	D	0.79784	0.993	T	0.71889	-0.4456	10	0.87932	D	0	.	10.364	0.44012	0.0:0.6374:0.0:0.3626	.	122	Q8NH05	OR4Q3_HUMAN	E	122	ENSP00000330049:D122E	ENSP00000330049:D122E	D	+	3	2	OR4Q3	19285792	0.001000	0.12720	0.995000	0.50966	0.612000	0.37316	-1.526000	0.02229	-0.333000	0.08476	-0.487000	0.04747	GAC	OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182652		0.502	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0	89	0	C			20215952	1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	missense	38.57	43	27	SNP	0.996	A	A	20215952	C	A	20215952	3	1	11	1	0	0	0	0	1	0	0	0	11120	477	17	3	368	3	OR4Q3	14	20215952	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		20215952	87133588	161	3029											
MMP14	4323	genome.wustl.edu	37	chr14	23306080	23306080	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccccctgctcacgctCggcaccgcgctcgcctccct	2	8	8	23	5	1	0	1	0	0	0	5	0	3	0	5	1	2	5	5	1	0	0	rs569732507		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:23306080C>A	ENST00000311852.6	+	1	315	c.54C>A	c.(52-54)ctC>ctA	p.L18L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	18					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGCTCACGCTCGGCACCGCGC	0.731											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	24	26					14																	23306080		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.54C>A	14.37:g.23306080C>A		762	A8K5L0|Q6GSF3|Q92678	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.L18	ENST00000311852.6	37	c.54	CCDS9577.1	14																																																																																			MMP14	-	pirsf_Pept_M10A_Metazoans	ENSG00000157227		0.731	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	-	0	235	0	C	NM_004995		23306080	1	tier1	-	no_errors	ENST00000311852	ensembl	human	known	74_37	silent	50.62	80	82	SNP	1.000	A	A	23306080	C	A	23306080	2	1	11	1	0	0	0	0	0	0	0	1	9691	871	31	2		2	MMP14	14	23306080	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	3090128	23306080	84043460	162	3030											
HEATR5A	25938	genome.wustl.edu	37	chr14	31844022	31844022	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactaaatccaacctacCacacagtgcaccagctcgtc	15	6	5	15	1	0	1	0	0	0	1	3	1	1	1	4	0	4	2	4	0	5	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:31844022C>A	ENST00000389961.3	-	11	1842	c.1843G>T	c.(1843-1845)Gct>Tct	p.A615S	HEATR5A_ENST00000439727.1_Splice_Site_p.A328S|HEATR5A_ENST00000543095.2_Splice_Site_p.A621S|HEATR5A_ENST00000404677.3_Splice_Site_p.A621S|HEATR5A_ENST00000439348.1_Splice_Site_p.A615S			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	615								p.A615S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCAACCTACCACACAGTGCA	0.448																																																	1	Substitution - Missense(1)	central_nervous_system(1)											54	57	56					14																	31844022		1975	4157	6132	SO:0001630	splice_region_variant	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1843+1G>T	14.37:g.31844022C>A			Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A615S	ENST00000389961.3	37	c.1843		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.68|19.68	3.873000|3.873000	0.72180|0.72180	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|T	0.68479|0.64260	-0.33;-0.33;-0.33;-0.33;-0.33|-0.09	5.75|5.75	5.75|5.75	0.90469|0.90469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.055154|.	0.64402|.	D|.	0.000001|.	T|T	0.69088|0.69088	0.3072|0.3072	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;B;B|.	0.67145|.	0.996;0.187;0.024|.	P;B;B|.	0.62813|.	0.907;0.12;0.045|.	T|T	0.63346|0.63346	-0.6658|-0.6658	9|6	.|.	.|.	.|.	.|.	19.9327|19.9327	0.97127|0.97127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621;615;615|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	S|F	615;615;328;621;621|263	ENSP00000374611:A615S;ENSP00000405407:A615S;ENSP00000408681:A328S;ENSP00000437968:A621S;ENSP00000384646:A621S|ENSP00000450296:C263F	.|.	A|C	-|-	1|2	0|0	HEATR5A|HEATR5A	30913773|30913773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	7.750000|7.750000	0.85110|0.85110	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GCT|TGC	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.448	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding			0	62	0	C	NM_015473	Missense_Mutation	31844022	-1			no_errors	ENST00000389961	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	31844022	C	A	31844022	5	1	11	1	0	0	0	0	0	0	1	0	7058	608	21	3	4379	3	HEATR5A	14	31844022	Splice_Site	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	8537942	31844022	75505518	163	3031											
HIF1A	3091	genome.wustl.edu	37	chr14	62193491	62193491	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagaatgaagtgtaccctAactagccgaggaagaactat	15	8	9	9	1	1	3	1	1	0	2	1	5	1	4	2	1	4	1	2	1	8	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:62193491A>G	ENST00000337138.4	+	5	790	c.525A>G	c.(523-525)ctA>ctG	p.L175L	HIF1A_ENST00000539097.1_Silent_p.L199L|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000394997.1_Silent_p.L176L|HIF1A_ENST00000557538.1_Silent_p.L116L|HIF1A_ENST00000323441.6_Silent_p.L175L|HIF1A-AS2_ENST00000554254.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	175	Interaction with TSGA10. {ECO:0000250}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.L175L(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AGTGTACCCTAACTAGCCGAG	0.328																																																	1	Substitution - coding silent(1)	endometrium(1)											86	83	84					14																	62193491		2203	4300	6503	SO:0001819	synonymous_variant	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.525A>G	14.37:g.62193491A>G			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.L199	ENST00000337138.4	37	c.597	CCDS9753.1	14																																																																																			HIF1A	-	superfamily_PAS	ENSG00000100644		0.328	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2		0	43	0	A	NM_001530		62193491	1			no_errors	ENST00000539097	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.971	G	G	62193491	A	G	62193491	2	3	11	1	0	0	0	0	0	0	0	1	7130	349	13	4		4	HIF1A	14	62193491	Silent	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	30349469	62193491	45156049	164	3032											
ADCK1	57143	genome.wustl.edu	37	chr14	78399575	78399575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttccaggcacaagaagaaGaatacctgttcattcttcag	13	12	7	9	0	3	3	2	0	1	3	4	3	4	3	2	1	1	2	2	1	5	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:78399575G>A	ENST00000238561.5	+	11	1512	c.1413G>A	c.(1411-1413)aaG>aaA	p.K471K	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.K403K	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	478						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACAAGAAGAAGAATACCTGTT	0.428																																																	0													64	63	63					14																	78399575		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1413G>A	14.37:g.78399575G>A			B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.K471	ENST00000238561.5	37	c.1413	CCDS9869.1	14																																																																																			ADCK1	-	NULL	ENSG00000063761		0.428	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	-	0	75	0	G	NM_020421		78399575	1	tier1	-	no_errors	ENST00000238561	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.998	A	A	78399575	G	A	78399575	2	1	11	1	0	0	0	0	0	0	0	1	288	933	33	3		3	ADCK1	14	78399575	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	16206084	78399575	28949965	165	3033											
TSHR	7253	genome.wustl.edu	37	chr14	81557442	81557442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacactggacttaaaatgtTccctgacctgaccaaagttt	13	11	6	11	0	0	2	0	2	0	0	1	3	1	3	3	1	1	2	3	1	4	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:81557442T>C	ENST00000541158.2	+	6	744	c.422T>C	c.(421-423)tTc>tCc	p.F141S	TSHR_ENST00000554263.1_Missense_Mutation_p.F141S|TSHR_ENST00000298171.2_Missense_Mutation_p.F141S|TSHR_ENST00000342443.6_Missense_Mutation_p.F141S|TSHR_ENST00000554435.1_Missense_Mutation_p.F141S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	141					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTTAAAATGTTCCCTGACCTG	0.313			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													145	140	141					14																	81557442		2203	4300	6503	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.422T>C	14.37:g.81557442T>C	ENSP00000441235:p.Phe141Ser		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.F141S	ENST00000541158.2	37	c.422	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273129	0.80580	.	.	ENSG00000165409	ENST00000541158;ENST00000342443;ENST00000298171;ENST00000554263;ENST00000554435	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.8	5.8	0.92144	.	0.043860	0.85682	D	0.000000	D	0.91331	0.7266	M	0.84433	2.695	0.51233	D	0.999913	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.989;0.999;0.962	D	0.92444	0.5964	10	0.87932	D	0	.	12.5377	0.56150	0.0:0.0:0.0:1.0	.	141;141;141;141	G3V2A9;F5GYU5;P16473-2;P16473	.;.;.;TSHR_HUMAN	S	141	ENSP00000441235:F141S;ENSP00000340113:F141S;ENSP00000298171:F141S;ENSP00000451202:F141S;ENSP00000450549:F141S	ENSP00000298171:F141S	F	+	2	0	TSHR	80627195	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.381000	0.66208	2.221000	0.72209	0.528000	0.53228	TTC	TSHR	-	prints_TSH_rcpt	ENSG00000165409		0.313	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	-	0	29	0	T	NM_000369		81557442	1	tier1	-	no_errors	ENST00000298171	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	C	C	81557442	T	C	81557442	3	2	11	1	0	0	0	0	1	0	0	0	16670	1783	62	4	440	4	TSHR	14	81557442	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	3157867	81557442	25792098	166	3034											
C14orf143	90141	genome.wustl.edu	37	chr14	90420307	90420307	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttaaagtcctctctgctGagatatcctttgtgatcttc	7	18	7	9	0	2	2	0	2	2	1	6	3	4	2	2	0	1	2	2	0	3	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:90420307G>T	ENST00000316738.7	-	2	142	c.114C>A	c.(112-114)ctC>ctA	p.L38L	EFCAB11_ENST00000555872.1_Silent_p.L14L|EFCAB11_ENST00000538485.2_Silent_p.L38L|EFCAB11_ENST00000267544.9_5'UTR|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000556005.1_Silent_p.L14L|TDP1_ENST00000335725.4_5'Flank|EFCAB11_ENST00000556609.1_5'UTR|TDP1_ENST00000357382.3_5'Flank|TDP1_ENST00000393454.2_5'Flank|TDP1_ENST00000393452.3_5'Flank	NM_001284267.1|NM_145231.3	NP_001271196.1|NP_660274.1	Q9BUY7	EFC11_HUMAN	EF-hand calcium binding domain 11	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)	2						CCTCTCTGCTGAGATATCCTT	0.353																																																	0													112	109	110					14																	90420307		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094740	CCDS9887.1, CCDS61522.1, CCDS61523.1, CCDS61524.1, CCDS61525.1	14q32.11	2013-01-10	2011-01-31	2011-01-31	ENSG00000140025	ENSG00000140025		"EF-hand domain containing"	20357	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 143"	C14orf143			Standard	NM_145231		Approved		uc001xxt.3	Q9BUY7	OTTHUMG00000148671	ENST00000316738.7:c.114C>A	14.37:g.90420307G>T			B3KT10|B7Z5G9|G3V5G1|Q86T09|Q86TV7|Q8NDQ1	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.L38	ENST00000316738.7	37	c.114	CCDS9887.1	14																																																																																			EFCAB11	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000140025		0.353	EFCAB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB11	HGNC	protein_coding	OTTHUMT00000309022.2	-	0	51	0	G	NM_145231		90420307	-1	tier1	-	no_errors	ENST00000316738	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T	T	90420307	G	T	90420307	2	4	11	1	0	0	0	0	0	0	0	1	1753	1277	45	3		3	C14orf143	14	90420307	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	8862865	90420307	16929233	167	3035											
MARK3	4140	genome.wustl.edu	37	chr14	103931996	103931996	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcgacacgttttgtggcAgtcctccatacgcagcacct	9	10	8	14	3	0	0	0	0	0	0	3	1	2	0	3	1	3	4	3	1	2	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr14:103931996A>T	ENST00000429436.2	+	8	1153	c.643A>T	c.(643-645)Agt>Tgt	p.S215C	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Missense_Mutation_p.S238C|MARK3_ENST00000216288.7_Missense_Mutation_p.S215C|MARK3_ENST00000440884.3_Intron|MARK3_ENST00000553942.1_Missense_Mutation_p.S215C|MARK3_ENST00000303622.9_Missense_Mutation_p.S215C|MARK3_ENST00000335102.5_Missense_Mutation_p.S238C	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTTTTGTGGCAGTCCTCCATA	0.438																																																	0													101	102	102					14																	103931996		2001	4193	6194	SO:0001583	missense	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.643A>T	14.37:g.103931996A>T	ENSP00000411397:p.Ser215Cys		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S215C	ENST00000429436.2	37	c.643	CCDS45165.1	14	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472991	0.84640	.	.	ENSG00000075413	ENST00000335102;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.086633	0.85682	D	0.000000	T	0.61085	0.2319	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;0.999;1.0;0.999;1.0;0.998	T	0.68017	-0.5520	10	0.87932	D	0	.	15.86	0.79014	1.0:0.0:0.0:0.0	.	238;238;215;215;215;215	P27448-7;P27448-2;P27448-6;P27448;P27448-4;P27448-3	.;.;.;MARK3_HUMAN;.;.	C	238;238;215;215;215;215	ENSP00000335347:S238C;ENSP00000408092:S238C;ENSP00000411397:S215C;ENSP00000303698:S215C;ENSP00000216288:S215C;ENSP00000450772:S215C	ENSP00000216288:S215C	S	+	1	0	MARK3	103001749	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.079000	0.76829	2.135000	0.66039	0.528000	0.53228	AGT	MARK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000075413		0.438	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	-	0	53	0	A	NM_001128918		103931996	1	tier1	-	no_errors	ENST00000429436	ensembl	human	known	74_37	missense	44.16	43	34	SNP	1.000	T	T	103931996	A	T	103931996	3	4	11	1	0	0	0	0	1	0	0	0	9352	188	7	5	673	5	MARK3	14	103931996	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	13511689	103931996	3417544	168	3036											
C15orf2	23742	genome.wustl.edu	37	chr15	24922225	24922225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccttctttctcccaacCtgtgcagaccacagactccc	7	10	5	19	0	2	2	0	0	2	2	4	2	3	2	6	0	3	1	6	0	1	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:24922225C>T	ENST00000329468.2	+	1	1685	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	404	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TTCTCCCAACCTGTGCAGACC	0.537																																																	0													70	73	72					15																	24922225		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1211C>T	15.37:g.24922225C>T	ENSP00000333735:p.Pro404Leu			Missense_Mutation	SNP	NULL	p.P404L	ENST00000329468.2	37	c.1211	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698483	0.30142	.	.	ENSG00000185823	ENST00000329468	T	0.44083	0.93	2.07	-1.4	0.08968	.	1.631160	0.03977	N	0.292686	T	0.31482	0.0798	L	0.39898	1.24	0.09310	N	1	B	0.20052	0.041	B	0.20184	0.028	T	0.21586	-1.0241	10	0.49607	T	0.09	.	2.034	0.03535	0.2577:0.3953:0.0:0.347	.	404	Q9NZP6	CO002_HUMAN	L	404	ENSP00000333735:P404L	ENSP00000333735:P404L	P	+	2	0	C15orf2	22473318	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.134000	0.15932	-0.355000	0.08199	0.313000	0.20887	CCT	NPAP1	-	NULL	ENSG00000185823		0.537	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0	49	0	C	NM_018958		24922225	1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	T	T	24922225	C	T	24922225	3	4	11	1	0	0	0	0	1	0	0	0	1789	681	24	3	1213	3	C15orf2	15	24922225	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		24922225	77609167	169	3037											
OCA2	4948	genome.wustl.edu	37	chr15	28196953	28196953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagatgaatgccagggAcaaacgaattgaggaaaaac	19	5	11	6	1	1	3	1	2	0	1	1	7	1	5	1	2	3	0	1	2	6	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:28196953A>G	ENST00000354638.3	-	18	2083	c.1928T>C	c.(1927-1929)gTc>gCc	p.V643A	OCA2_ENST00000382996.2_Missense_Mutation_p.V643A|OCA2_ENST00000353809.5_Missense_Mutation_p.V619A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	643					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AATGCCAGGGACAAACGAATT	0.438									Oculocutaneous Albinism																																								0													171	132	145					15																	28196953		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1928T>C	15.37:g.28196953A>G	ENSP00000346659:p.Val643Ala		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.V643A	ENST00000354638.3	37	c.1928	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089315	0.76756	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;T	0.92595	-3.07;-3.07;-1.38	5.37	5.37	0.77165	Divalent ion symporter (1);	0.064498	0.64402	D	0.000009	D	0.89213	0.6651	L	0.45581	1.43	0.44719	D	0.997715	B;B	0.29341	0.203;0.242	B;B	0.33196	0.061;0.159	D	0.86398	0.1740	10	0.29301	T	0.29	-18.5341	13.3316	0.60490	1.0:0.0:0.0:0.0	.	619;643	Q04671-2;Q04671	.;P_HUMAN	A	643;619;643	ENSP00000346659:V643A;ENSP00000261276:V619A;ENSP00000372457:V643A	ENSP00000261276:V619A	V	-	2	0	OCA2	25870548	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.215000	0.89762	2.036000	0.60181	0.533000	0.62120	GTC	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.438	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0	79	0	A	NM_000275		28196953	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G	G	28196953	A	G	28196953	3	3	11	1	0	0	0	0	1	0	0	0	10854	275	10	4	616	4	OCA2	15	28196953	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	3274728	28196953	74334439	170	3038											
TBC1D21	161514	genome.wustl.edu	37	chr15	74177204	74177204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggctagagaagatcctgctCctgagttacgtctgcaacac	11	9	10	11	1	1	3	0	1	1	2	3	4	3	3	2	1	4	4	2	1	4	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:74177204C>T	ENST00000300504.2	+	5	533	c.450C>T	c.(448-450)ctC>ctT	p.L150L	TBC1D21_ENST00000535547.2_Silent_p.L114L|TBC1D21_ENST00000562056.1_Intron	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	150	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGATCCTGCTCCTGAGTTACG	0.557																																																	0													102	88	93					15																	74177204		2198	4297	6495	SO:0001819	synonymous_variant	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.450C>T	15.37:g.74177204C>T			B9A6M2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L150	ENST00000300504.2	37	c.450	CCDS10252.1	15																																																																																			TBC1D21	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167139		0.557	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	-	0	42	0	C	NM_153356		74177204	1	tier1	-	no_errors	ENST00000300504	ensembl	human	known	74_37	silent	38.64	27	17	SNP	0.947	T	T	74177204	C	T	74177204	2	4	11	1	0	0	0	0	0	0	0	1	15657	842	30	3		3	TBC1D21	15	74177204	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	45980251	74177204	28354188	171	3039											
ACSBG1	23205	genome.wustl.edu	37	chr15	78473257	78473257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgtgggctccacctcccGcagcgtgttcaccaggctcc	5	9	11	16	2	1	1	1	1	0	0	4	1	4	1	5	2	1	4	5	2	0	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:78473257G>A	ENST00000258873.4	-	9	1298	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R123W|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R123W	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	365					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TCCACCTCCCGCAGCGTGTTC	0.652																																																	0													70	62	64					15																	78473257		2196	4293	6489	SO:0001583	missense	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1093C>T	15.37:g.78473257G>A	ENSP00000258873:p.Arg365Trp		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R365W	ENST00000258873.4	37	c.1093	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176231	0.78564	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.44881	0.91;0.91	5.48	3.44	0.39384	AMP-dependent synthetase/ligase (1);	0.126462	0.49305	D	0.000160	T	0.67258	0.2874	M	0.89715	3.055	0.37854	D	0.929503	D;D	0.89917	1.0;0.998	D;D	0.70487	0.969;0.93	T	0.76780	-0.2833	10	0.72032	D	0.01	-47.3661	11.5296	0.50601	0.0:0.0:0.4437:0.5563	.	361;365	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	W	365;123	ENSP00000258873:R365W;ENSP00000439955:R123W	ENSP00000258873:R365W	R	-	1	2	ACSBG1	76260312	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	3.111000	0.50360	1.312000	0.45043	0.655000	0.94253	CGG	ACSBG1	-	pfam_AMP-dep_Synth/Lig	ENSG00000103740		0.652	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2		0	27	0	G	NM_015162		78473257	-1			no_errors	ENST00000258873	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	78473257	G	A	78473257	3	1	11	1	0	0	0	0	1	0	0	0	173	1086	38	1	1105	1	ACSBG1	15	78473257	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	4296053	78473257	24058135	172	3040											
ACAN	176	genome.wustl.edu	37	chr15	89398111	89398111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacttggcctcccactggCgcagcaacagaggaaagtac	11	6	10	14	1	0	1	0	0	0	1	1	2	1	2	3	3	4	3	3	3	4	3	rs546447132		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:89398111C>T	ENST00000561243.1	+	11	2295	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	ACAN_ENST00000352105.7_Silent_p.G765G|ACAN_ENST00000559004.1_Silent_p.G765G|ACAN_ENST00000439576.2_Silent_p.G765G			P16112	PGCA_HUMAN	aggrecan	764	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCACTGGCGCAGCAACAG	0.517													C|||	1	0.000199681	8e-04	0	5008	,	,		19176	0		0	False		,,,				2504	0																0													21	23	22					15																	89398111		1914	4112	6026	SO:0001819	synonymous_variant	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2295C>T	15.37:g.89398111C>T			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G765	ENST00000561243.1	37	c.2295	CCDS53970.1	15																																																																																			ACAN	-	NULL	ENSG00000157766		0.517	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0	91	0	C	NM_001135		89398111	1	tier1	-	no_errors	ENST00000439576	ensembl	human	known	74_37	silent	49.48	49	48	SNP	0.000	T	T	89398111	C	T	89398111	2	4	11	1	0	0	0	0	0	0	0	1	117	755	27	1		1	ACAN	15	89398111	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	10924854	89398111	13133281	173	3041											
ARRDC4	91947	genome.wustl.edu	37	chr15	98504124	98504124	+	Frame_Shift_Del	DEL	G	G	-																															gctgggtgcgcggcggccgtGggtgccgagggccgcgtgaa																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr15:98504124delG	ENST00000268042.6	+	1	197	c.33delG	c.(31-33)gtgfs	p.V11fs	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	11					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CGGCGGCCGTGGGTGCCGAGG	0.736																																																	0													9	7	8					15																	98504124		1842	3649	5491	SO:0001589	frameshift_variant	0			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.33delG	15.37:g.98504124delG	ENSP00000268042:p.Val11fs		Q6NSI9	Frame_Shift_Del	DEL	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.G12fs	ENST00000268042.6	37	c.33	CCDS10377.1	15																																																																																			ARRDC4	-	NULL	ENSG00000140450		0.736	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC4	HGNC	protein_coding	OTTHUMT00000313535.1		0	29	0	G	NM_183376		98504124	1	tier1		no_errors	ENST00000268042	ensembl	human	known	74_37	frame_shift_del	14.29	24	4	DEL	0.662	-	-	98504124	G	-	98504124	7	5	11	1	0	1	0	1	0	0	0	0	986	1335	47	0	35	0	ARRDC4	15	98504124	Frame_Shift_Del	DEL	G	TCGA-2H-A9GQ-01A-11D-A37C-09	9106013	98504124	4027268	174	3042											
CREBBP	1387	genome.wustl.edu	37	chr16	3824652	3824652	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatgggtgcttgtggcAactggacgttccccaaggac	7	9	13	12	1	0	0	0	0	0	0	2	2	2	2	3	4	2	3	3	4	2	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:3824652A>T	ENST00000262367.5	-	12	3010	c.2201T>A	c.(2200-2202)tTg>tAg	p.L734*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.L696*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	734					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCTTGTGGCAACTGGACGTT	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													129	104	112					16																	3824652		2197	4300	6497	SO:0001587	stop_gained	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2201T>A	16.37:g.3824652A>T	ENSP00000262367:p.Leu734*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.L734*	ENST00000262367.5	37	c.2201	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	A	48	14.298613	0.99789	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	4.79	4.79	0.61399	.	0.154396	0.41001	D	0.000973	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9113	14.7838	0.69787	1.0:0.0:0.0:0.0	.	.	.	.	X	734;764;696	.	ENSP00000262367:L734X	L	-	2	0	CREBBP	3764653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.326000	0.90010	2.151000	0.67156	0.455000	0.32223	TTG	CREBBP	-	NULL	ENSG00000005339		0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	73	0	A	NM_004380		3824652	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	3824652	A	T	3824652	4	4	11	1	0	0	0	0	0	1	0	0	3868	131	5	5	5207	5	CREBBP	16	3824652	Nonsense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09		3824652	86530101	175	3043											
CP110	9738	genome.wustl.edu	37	chr16	19559292	19559292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacagagtccttcagccaaaCcaaggacagaatgcacctgt	15	6	8	12	0	1	2	1	0	0	2	2	3	2	3	4	1	4	1	4	1	4	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:19559292C>T	ENST00000381396.5	+	13	3103	c.2856C>T	c.(2854-2856)aaC>aaT	p.N952N	CCP110_ENST00000396208.2_Silent_p.N952N|CCP110_ENST00000396212.2_Silent_p.N952N	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	952					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TTCAGCCAAACCAAGGACAGA	0.358																																																	0													126	137	133					16																	19559292		2197	4300	6497	SO:0001819	synonymous_variant	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2856C>T	16.37:g.19559292C>T			B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	NULL	p.N952	ENST00000381396.5	37	c.2856	CCDS55992.1	16																																																																																			CCP110	-	NULL	ENSG00000103540		0.358	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	-	0	62	0	C	NM_014711		19559292	1	tier1	-	no_errors	ENST00000381396	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T	T	19559292	C	T	19559292	2	4	11	1	0	0	0	0	0	0	0	1	3795	506	18	3		3	CP110	16	19559292	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	15734640	19559292	70795461	176	3044											
SRCAP	10847	genome.wustl.edu	37	chr16	30749528	30749529	+	Frame_Shift_Del	DEL	CG	CG	-																															ctgcccgacctcctcggcgtCgcaccagtgctgatgtggaa																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:30749528_30749529delCG	ENST00000262518.4	+	34	8552_8553	c.8167_8168delCG	c.(8167-8169)cgcfs	p.R2723fs	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.R2565fs|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.R2661fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2723	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCTCGGCGTCGCACCAGTGCT	0.599																																																	0																																										SO:0001589	frameshift_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8167_8168delCG	16.37:g.30749528_30749529delCG	ENSP00000262518:p.Arg2723fs		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R2723fs	ENST00000262518.4	37	c.8167_8168	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.599	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1		0	78	0	CG	NM_006662		30749529	1	tier1		no_errors	ENST00000262518	ensembl	human	known	74_37	frame_shift_del	10.59	76	9	DEL	1.000:1.000	-	-	30749529	CG	-	30749528	7	5	11	1	0	1	0	1	0	0	0	0	15182	884	31	0	8293	0	SRCAP	16	30749528	Frame_Shift_Del	DEL	CG	TCGA-2H-A9GQ-01A-11D-A37C-09	11190236	30749528	59605225	177	3045											
GPT2	84706	genome.wustl.edu	37	chr16	46956203	46956203	+	Frame_Shift_Del	DEL	A	A	-																															tgatcaacctgcaccctgagAtcaagggccagctggtgaag																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:46956203delA	ENST00000340124.4	+	9	1199	c.1087delA	c.(1087-1089)atcfs	p.I363fs	GPT2_ENST00000440783.2_Frame_Shift_Del_p.I263fs	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	363					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GCACCCTGAGATCAAGGGCCA	0.602																																																	0													97	80	86					16																	46956203		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1087delA	16.37:g.46956203delA	ENSP00000345282:p.Ile363fs		Q8N9E2	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.I363fs	ENST00000340124.4	37	c.1087	CCDS10725.1	16																																																																																			GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000166123		0.602	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2		0	50	0	A			46956203	1	tier1		no_errors	ENST00000340124	ensembl	human	known	74_37	frame_shift_del	32.89	51	25	DEL	1.000	-	-	46956203	A	-	46956203	7	5	11	1	0	1	0	1	0	0	0	0	6765	333	12	0	1117	0	GPT2	16	46956203	Frame_Shift_Del	DEL	A	TCGA-2H-A9GQ-01A-11D-A37C-09	16206675	46956203	43398550	178	3046											
ABCC12	94160	genome.wustl.edu	37	chr16	48139202	48139202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgatgtctgccagcaccgCgccgacctcacacatggtcc	8	6	9	18	4	2	0	1	0	1	0	3	2	3	0	6	1	2	1	6	1	0	0	rs367859326		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:48139202C>G	ENST00000311303.3	-	19	2866	c.2521G>C	c.(2521-2523)Gcg>Ccg	p.A841P	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A838P	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	841	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.A841T(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCCAGCACCGCGCCGACCTCA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											127	91	103					16																	48139202		2201	4300	6501	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2521G>C	16.37:g.48139202C>G	ENSP00000311030:p.Ala841Pro		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A841P	ENST00000311303.3	37	c.2521	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042098	0.35989	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.47177	0.85;0.85	5.21	-3.96	0.04106	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.234800	0.05497	N	0.557775	T	0.26774	0.0655	N	0.12746	0.255	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.20840	-1.0263	10	0.37606	T	0.19	.	6.4171	0.21721	0.0:0.2081:0.2629:0.529	.	841	Q96J65	MRP9_HUMAN	P	841;838;759	ENSP00000311030:A841P;ENSP00000401855:A838P	ENSP00000311030:A841P	A	-	1	0	ABCC12	46696703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.119000	0.00596	-0.817000	0.04335	-0.140000	0.14226	GCG	ABCC12	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000140798		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1		0	37	0	C	NM_033226		48139202	-1			no_errors	ENST00000311303	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.000	G	G	48139202	C	G	48139202	3	3	11	1	0	0	0	0	1	0	0	0	52	768	27	5	1602	5	ABCC12	16	48139202	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	1182999	48139202	42215551	179	3047											
LONP2	83752	genome.wustl.edu	37	chr16	48337147	48337147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggccatttgccgagctgtgGccgtgaaggtggcagaagga	8	7	18	8	2	0	2	0	1	0	1	0	4	0	3	3	5	2	2	3	5	2	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:48337147G>A	ENST00000285737.4	+	11	1819	c.1726G>A	c.(1726-1728)Gcc>Acc	p.A576T	LONP2_ENST00000535754.1_Missense_Mutation_p.A532T	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCGAGCTGTGGCCGTGAAGGT	0.473																																																	0													201	166	178					16																	48337147		2200	4300	6500	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1726G>A	16.37:g.48337147G>A	ENSP00000285737:p.Ala576Thr			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.A576T	ENST00000285737.4	37	c.1726	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.533996	0.96460	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.39787	1.06;1.08	5.33	5.33	0.75918	.	0.046708	0.85682	D	0.000000	T	0.66829	0.2829	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.68341	-0.5434	10	0.62326	D	0.03	-21.8836	19.2116	0.93757	0.0:0.0:1.0:0.0	.	532;576	B7ZKL7;Q86WA8	.;LONP2_HUMAN	T	576;305;532;532	ENSP00000285737:A576T;ENSP00000445426:A532T	ENSP00000285737:A576T	A	+	1	0	LONP2	46894648	1.000000	0.71417	0.942000	0.38095	0.918000	0.54935	9.412000	0.97347	2.766000	0.95052	0.655000	0.94253	GCC	LONP2	-	tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.473	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0	129	0	G	NM_031490		48337147	1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	31.79	103	48	SNP	1.000	A	A	48337147	G	A	48337147	3	1	11	1	0	0	0	0	1	0	0	0	8928	1203	42	3	1768	3	LONP2	16	48337147	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	197945	48337147	42017606	180	3048											
CYLD	1540	genome.wustl.edu	37	chr16	50827509	50827509	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaatgtatgagtgtagagaAtgctacgacgatccggacat	13	9	12	7	3	0	2	0	1	0	1	1	6	1	3	1	1	2	4	1	1	5	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:50827509A>C	ENST00000427738.3	+	16	2608	c.2403A>C	c.(2401-2403)gaA>gaC	p.E801D	CYLD_ENST00000311559.9_Missense_Mutation_p.E801D|CYLD_ENST00000540145.1_Missense_Mutation_p.E801D|CYLD_ENST00000569418.1_Missense_Mutation_p.E798D|CYLD_ENST00000398568.2_Missense_Mutation_p.E798D|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.E798D|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.E798D|CYLD_ENST00000568704.2_Missense_Mutation_p.E616D			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	801	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGTGTAGAGAATGCTACGACG	0.428			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													173	158	163					16																	50827509		1901	4130	6031	SO:0001583	missense	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2403A>C	16.37:g.50827509A>C	ENSP00000392025:p.Glu801Asp		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.E801D	ENST00000427738.3	37	c.2403	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	A	14.04	2.417278	0.42918	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T;T	0.74002	-0.78;-0.78;-0.8;-0.78	5.25	-4.63	0.03359	.	0.102765	0.64402	D	0.000002	T	0.58566	0.2131	N	0.25286	0.73	0.52501	D	0.999958	B;B	0.20550	0.046;0.037	B;B	0.22601	0.04;0.024	T	0.16100	-1.0414	10	0.30854	T	0.27	-30.5939	18.5913	0.91214	0.3232:0.0:0.6768:0.0	.	798;798	A8KAB0;Q9NQC7-2	.;.	D	801;801;798;798	ENSP00000445447:E801D;ENSP00000308928:E801D;ENSP00000392025:E798D;ENSP00000381574:E798D	ENSP00000308928:E801D	E	+	3	2	CYLD	49385010	0.950000	0.32346	0.793000	0.32043	0.941000	0.58515	0.108000	0.15396	-1.180000	0.02734	-0.290000	0.09829	GAA	CYLD	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000083799		0.428	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	-	0	77	0	A			50827509	1	tier1	-	no_errors	ENST00000311559	ensembl	human	known	74_37	missense	26.97	65	24	SNP	0.838	C	C	50827509	A	C	50827509	3	2	11	1	0	0	0	0	1	0	0	0	4152	98	4	4	2461	4	CYLD	16	50827509	Missense_Mutation	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	2490362	50827509	39527244	181	3049											
CCL22	6367	genome.wustl.edu	37	chr16	57394440	57394440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggtgaaacacttctactgGacctcagactcctgcccgag	9	9	10	13	1	2	2	1	1	1	1	3	4	3	3	3	2	3	0	3	2	2	2	rs200292277		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:57394440G>A	ENST00000219235.4	+	2	210	c.165G>A	c.(163-165)tgG>tgA	p.W55*		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	55					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTTCTACTGGACCTCAGACT	0.652																																																	0													82	69	74					16																	57394440		2198	4300	6498	SO:0001587	stop_gained	0			U83171	CCDS10778.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000102962	ENSG00000102962		"Chemokine ligands", "Endogenous ligands"	10621	protein-coding gene	gene with protein product		602957	"small inducible cytokine subfamily A (Cys-Cys), member 22"	SCYA22		9151897, 9691168	Standard	NM_002990		Approved	MDC, STCP-1, ABCD-1, DC/B-CK, A-152E5.1, MGC34554	uc002elh.3	O00626	OTTHUMG00000133454	ENST00000219235.4:c.165G>A	16.37:g.57394440G>A	ENSP00000219235:p.Trp55*		A0N0Q6|B2R4W2	Nonsense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.W55*	ENST00000219235.4	37	c.165	CCDS10778.1	16	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232860	0.39498	.	.	ENSG00000102962	ENST00000219235	.	.	.	4.17	3.16	0.36331	.	0.950805	0.08840	N	0.886026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.685	9.0348	0.36280	0.0:0.2478:0.7522:0.0	.	.	.	.	X	55	.	ENSP00000219235:W55X	W	+	3	0	CCL22	55951941	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	2.601000	0.46249	2.158000	0.67659	0.555000	0.69702	TGG	CCL22	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000102962		0.652	CCL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL22	HGNC	protein_coding	OTTHUMT00000257328.1	-	0	155	0	G	NM_002990		57394440	1	tier1	rs200292277	no_errors	ENST00000219235	ensembl	human	known	74_37	nonsense	60.47	68	104	SNP	0.998	A	A	57394440	G	A	57394440	4	1	11	1	0	0	0	0	0	1	0	0	2901	1183	41	3	171	3	CCL22	16	57394440	Nonsense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	6566931	57394440	32960313	182	3050											
GPR56	9289	genome.wustl.edu	37	chr16	57691341	57691341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgagcctcctctcctaCgtgggctgtgtcgtctctgc	3	13	10	15	2	2	1	0	1	2	0	6	1	3	1	4	1	4	1	4	1	2	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:57691341C>T	ENST00000388812.4	+	10	1664	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y	GPR56_ENST00000568909.1_Silent_p.Y408Y|GPR56_ENST00000456916.1_Silent_p.Y408Y|GPR56_ENST00000562558.1_Silent_p.Y408Y|GPR56_ENST00000562631.1_Silent_p.Y408Y|GPR56_ENST00000379696.3_Silent_p.Y408Y|GPR56_ENST00000567835.1_Silent_p.Y408Y|GPR56_ENST00000544297.1_Silent_p.Y233Y|GPR56_ENST00000538815.1_Silent_p.Y408Y|GPR56_ENST00000540164.2_Silent_p.Y408Y|GPR56_ENST00000379694.4_Silent_p.Y238Y|GPR56_ENST00000568908.1_Silent_p.Y408Y|GPR56_ENST00000388813.5_Silent_p.Y408Y			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	408					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCCTCTCCTACGTGGGCTGTG	0.657																																																	0													184	155	165					16																	57691341		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1224C>T	16.37:g.57691341C>T			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Y408	ENST00000388812.4	37	c.1224	CCDS32460.1	16																																																																																			GPR56	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000205336		0.657	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	-	0	62	0	C			57691341	1	tier1	-	no_errors	ENST00000379696	ensembl	human	known	74_37	silent	42.42	38	28	SNP	1.000	T	T	57691341	C	T	57691341	2	4	11	1	0	0	0	0	0	0	0	1	6726	547	19	1		1	GPR56	16	57691341	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	296901	57691341	32663412	183	3051											
TXNL4B	54957	genome.wustl.edu	37	chr16	72122990	72122990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttggtccacatctacCaggtatatagcagccatttt	10	13	8	10	0	1	0	0	0	1	0	2	0	2	0	3	2	3	4	3	2	4	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr16:72122990C>T	ENST00000268483.3	-	3	501	c.180G>A	c.(178-180)ctG>ctA	p.L60L	TXNL4B_ENST00000423037.1_Silent_p.L60L|RP11-384M15.3_ENST00000561827.1_RNA|TXNL4B_ENST00000426362.2_Silent_p.L60L	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	60					mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						CCACATCTACCAGGTATATAG	0.373																																																	0													112	105	107					16																	72122990		2198	4300	6498	SO:0001819	synonymous_variant	0			BC009646	CCDS10906.1	16q22.2	2012-11-19			ENSG00000140830	ENSG00000140830			26041	protein-coding gene	gene with protein product						15161931	Standard	NM_017853		Approved	FLJ20511, DLP, Dim2	uc010vmn.2	Q9NX01	OTTHUMG00000173453	ENST00000268483.3:c.180G>A	16.37:g.72122990C>T			D3DWS6	Silent	SNP	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	p.L60	ENST00000268483.3	37	c.180	CCDS10906.1	16																																																																																			TXNL4B	-	pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5	ENSG00000140830		0.373	TXNL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL4B	HGNC	protein_coding	OTTHUMT00000269007.2	-	0	77	0	C	NM_017853		72122990	-1	tier1	-	no_errors	ENST00000268483	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.998	T	T	72122990	C	T	72122990	2	4	11	1	0	0	0	0	0	0	0	1	16855	581	21	3		3	TXNL4B	16	72122990	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	14431649	72122990	18231763	184	3052											
ANKFY1	51479	genome.wustl.edu	37	chr17	4098337	4098337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctggctgcaaagctgttCtcatcaaatgaagtcccatt	11	12	8	10	0	3	1	2	1	2	0	5	1	4	1	1	1	2	4	1	1	3	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:4098337C>A	ENST00000341657.4	-	10	1343	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	Y_RNA_ENST00000384660.1_RNA|ANKFY1_ENST00000574367.1_Missense_Mutation_p.E436D|ANKFY1_ENST00000570535.1_Missense_Mutation_p.E478D|ANKFY1_ENST00000433651.1_Missense_Mutation_p.E436D	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	436					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAAGCTGTTCTCATCAAATG	0.587																																																	0													57	61	60					17																	4098337		2112	4254	6366	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1308G>T	17.37:g.4098337C>A	ENSP00000343362:p.Glu436Asp		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.E478D	ENST00000341657.4	37	c.1434		17	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955811	0.53293	.	.	ENSG00000185722	ENST00000341657;ENST00000535427;ENST00000433651	T;T	0.52057	0.91;0.68	5.58	-3.39	0.04868	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	N	0.02391	-0.57	0.50313	D	0.999867	D;B;B;B;B	0.67145	0.996;0.008;0.0;0.0;0.002	D;B;B;B;B	0.76071	0.987;0.038;0.001;0.002;0.004	T	0.32534	-0.9903	10	0.10636	T	0.68	-20.8303	13.8274	0.63359	0.0:0.6057:0.0:0.3943	.	377;436;436;436;478	F5H754;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	D	436;377;436	ENSP00000343362:E436D;ENSP00000416005:E436D	ENSP00000343362:E436D	E	-	3	2	ANKFY1	4045086	0.487000	0.25988	0.991000	0.47740	0.995000	0.86356	-0.202000	0.09451	-0.371000	0.08004	-0.290000	0.09829	GAG	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.587	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	-	0	36	0	C	NM_016376		4098337	-1	tier1	-	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	77.78	4	14	SNP	0.996	A	A	4098337	C	A	4098337	3	1	11	1	0	0	0	0	1	0	0	0	626	912	32	3	2360	3	ANKFY1	17	4098337	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		4098337	77096873	185	3053											
CHRNB1	1140	genome.wustl.edu	37	chr17	7350840	7350840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacctacttccccttcGactggcagaattgcactatg	9	11	8	13	1	1	1	1	0	0	1	3	2	2	1	3	2	2	2	3	2	3	5			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:7350840G>T	ENST00000306071.2	+	6	548	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	CHRNB1_ENST00000576360.1_Missense_Mutation_p.D89Y|RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000536404.2_Missense_Mutation_p.D89Y	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	161					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CTTCCCCTTCGACTGGCAGAA	0.587																																																	0													118	105	109					17																	7350840		2203	4300	6503	SO:0001583	missense	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.481G>T	17.37:g.7350840G>T	ENSP00000304290:p.Asp161Tyr		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D161Y	ENST00000306071.2	37	c.481	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572981	0.86542	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	D;D	0.92149	-2.98;-2.98	5.11	5.11	0.69529	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97445	0.9164	H	0.96748	3.875	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.98797	1.0738	10	0.87932	D	0	.	16.0249	0.80536	0.0:0.0:1.0:0.0	.	161	P11230	ACHB_HUMAN	Y	161;89	ENSP00000304290:D161Y;ENSP00000439209:D89Y	ENSP00000304290:D161Y	D	+	1	0	CHRNB1	7291564	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	9.451000	0.97610	2.371000	0.80710	0.561000	0.74099	GAC	CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000170175		0.587	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3		0	30	0	G			7350840	1			no_errors	ENST00000306071	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	7350840	G	T	7350840	3	4	11	1	0	0	0	0	1	0	0	0	3397	1058	37	2	503	2	CHRNB1	17	7350840	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	3252503	7350840	73844370	186	3054											
TP53	7157	genome.wustl.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R282W	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	47	0	G	NM_000546		7577094	-1	tier1	rs28934574	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.17	11	30	SNP	0.997	A	A	7577094	G	A	7577094	3	1	11	1	0	0	0	0	1	0	0	0	16429	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	226254	7577094	73618116	187	3055											
CCDC144NL	339184	genome.wustl.edu	37	chr17	20768734	20768734	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggttgtgaatgtttacctTacaacattagacacatgatt	12	16	7	6	0	0	3	0	2	0	1	0	3	0	3	1	1	3	2	1	1	5	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:20768734T>C	ENST00000327925.5	-	4	779	c.660A>G	c.(658-660)gtA>gtG	p.V220V	CCDC144NL_ENST00000539484.1_5'UTR	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	220										large_intestine(3)|lung(3)|skin(1)	7						ATGTTTACCTTACAACATTAG	0.363																																																	0													103	94	97					17																	20768734		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.660A>G	17.37:g.20768734T>C				Silent	SNP	NULL	p.V220	ENST00000327925.5	37	c.660	CCDS32591.1	17																																																																																			CCDC144NL	-	NULL	ENSG00000205212		0.363	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC144NL	HGNC	protein_coding	OTTHUMT00000255361.2		0	58	0	T	NM_001004306		20768734	-1			no_errors	ENST00000327925	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.008	C	C	20768734	T	C	20768734	2	2	11	1	0	0	0	0	0	0	0	1	2786	1741	61	4		4	CCDC144NL	17	20768734	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	13191640	20768734	60426476	188	3056											
SUPT6H	6830	genome.wustl.edu	37	chr17	27003311	27003311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtgaaatccgagtgCgccccaagaagaccaccaag	13	4	12	12	2	0	4	0	2	0	2	1	5	1	4	5	1	1	0	5	1	4	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:27003311C>T	ENST00000314616.6	+	7	1043	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R254C	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	254	Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATCCGAGTGCGCCCCAAGAA	0.463																																																	0													135	131	132					17																	27003311		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.760C>T	17.37:g.27003311C>T	ENSP00000319104:p.Arg254Cys		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R254C	ENST00000314616.6	37	c.760	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.435255	0.96150	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.75473	-0.3305	9	0.59425	D	0.04	-12.1193	19.1693	0.93570	0.0:1.0:0.0:0.0	.	254	Q7KZ85	SPT6H_HUMAN	C	254	.	ENSP00000319104:R254C	R	+	1	0	SUPT6H	24027438	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.242000	0.78210	2.625000	0.88918	0.655000	0.94253	CGC	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.463	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2		0	60	0	C	NM_003170		27003311	1			no_errors	ENST00000314616	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	27003311	C	T	27003311	3	4	11	1	0	0	0	0	1	0	0	0	15447	768	27	1	782	1	SUPT6H	17	27003311	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	6234577	27003311	54191899	189	3057											
GPR179	440435	genome.wustl.edu	37	chr17	36484880	36484880	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgacttaatttctgcacTgctttcacagtttgttcccc	6	18	6	11	0	2	1	1	1	1	0	3	1	3	1	2	0	2	5	2	0	1	6	rs374596840		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:36484880T>C	ENST00000342292.4	-	11	4592	c.4572A>G	c.(4570-4572)gcA>gcG	p.A1524A	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1524					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTTCTGCACTGCTTTCACAG	0.488																																																	0													165	169	168					17																	36484880		2062	4219	6281	SO:0001819	synonymous_variant	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4572A>G	17.37:g.36484880T>C				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.A1524	ENST00000342292.4	37	c.4572	CCDS42308.1	17																																																																																			GPR179	-	NULL	ENSG00000188888		0.488	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0	57	0	T			36484880	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.000	C	C	36484880	T	C	36484880	2	2	11	1	0	0	0	0	0	0	0	1	6700	1567	55	4		4	GPR179	17	36484880	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	9481569	36484880	44710330	190	3058											
PIP4K2B	8396	genome.wustl.edu	37	chr17	36935757	36935757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaactgtggcaaaagcGtgttgccatgacactccact	11	8	10	12	1	0	1	0	1	0	0	1	2	1	2	3	2	3	2	3	2	3	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:36935757G>T	ENST00000269554.3	-	5	1013	c.533C>A	c.(532-534)aCg>aAg	p.T178K	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	178	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.T178M(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TGGCAAAAGCGTGTTGCCATG	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											127	90	103					17																	36935757		2203	4300	6503	SO:0001583	missense	0			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.533C>A	17.37:g.36935757G>T	ENSP00000269554:p.Thr178Lys		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.T178K	ENST00000269554.3	37	c.533	CCDS11329.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.093339	0.94149	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.52983	0.64	5.17	5.17	0.71159	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.83275	0.996;0.996;0.976	D	0.88643	0.3177	10	0.87932	D	0	-14.7027	17.3861	0.87416	0.0:0.0:1.0:0.0	.	178;178;178	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	K	178	ENSP00000269554:T178K	ENSP00000269554:T178K	T	-	2	0	PIP4K2B	34189283	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	9.259000	0.95561	2.684000	0.91462	0.655000	0.94253	ACG	PIP4K2B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000141720		0.532	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1		0	34	0	G	NM_003559		36935757	-1			no_errors	ENST00000269554	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	36935757	G	T	36935757	3	4	11	1	0	0	0	0	1	0	0	0	11976	1145	40	2	741	2	PIP4K2B	17	36935757	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	450877	36935757	44259453	191	3059											
NR1D1	9572	genome.wustl.edu	37	chr17	38253456	38253456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaagaaggggagccgtCatcactcaggctgggtggaa	11	6	17	7	1	3	2	3	1	0	1	3	5	3	5	1	6	1	1	1	6	3	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:38253456C>A	ENST00000246672.3	-	2	862	c.232G>T	c.(232-234)Gac>Tac	p.D78Y		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	78	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					ggggagCCGTCATCACTCAGG	0.607																																																	0													76	77	77					17																	38253456		2203	4300	6503	SO:0001583	missense	0			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"Nuclear hormone receptors"	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.232G>T	17.37:g.38253456C>A	ENSP00000246672:p.Asp78Tyr		Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.D78Y	ENST00000246672.3	37	c.232	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770364	0.31320	.	.	ENSG00000126368	ENST00000246672	D	0.90900	-2.75	4.96	4.96	0.65561	.	0.295538	0.28883	N	0.013840	D	0.82467	0.5043	N	0.14661	0.345	0.23581	N	0.997366	P	0.52316	0.952	B	0.42692	0.395	T	0.77728	-0.2479	10	0.72032	D	0.01	.	10.6842	0.45833	0.0:0.9113:0.0:0.0887	.	78	P20393	NR1D1_HUMAN	Y	78	ENSP00000246672:D78Y	ENSP00000246672:D78Y	D	-	1	0	NR1D1	35506982	0.954000	0.32549	0.670000	0.29842	0.338000	0.28826	4.546000	0.60705	2.582000	0.87167	0.462000	0.41574	GAC	NR1D1	-	NULL	ENSG00000126368		0.607	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	-	0	114	0	C			38253456	-1	tier1	-	no_errors	ENST00000246672	ensembl	human	known	74_37	missense	10.14	62	7	SNP	0.367	A	A	38253456	C	A	38253456	3	1	11	1	0	0	0	0	1	0	0	0	10654	826	29	3	1640	3	NR1D1	17	38253456	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	1317699	38253456	42941754	192	3060											
KRT23	25984	genome.wustl.edu	37	chr17	39084536	39084536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccagggcctggaatgtgCgcttcagttcgtggatgtca	6	12	13	10	2	3	0	2	0	1	0	5	2	3	2	2	3	1	2	2	3	1	2	rs115236336	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:39084536C>T	ENST00000209718.3	-	6	1299	c.875G>A	c.(874-876)cGc>cAc	p.R292H	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Missense_Mutation_p.R155H	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	292	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CTGGAATGTGCGCTTCAGTTC	0.572													C|||	3	0.000599042	0.0023	0	5008	,	,		20887	0		0	False		,,,				2504	0																0								C	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	285	231	249		875	5.8	1	17	dbSNP_132	249	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KRT23	NM_015515.3	29	0,9,6494	TT,TC,CC		0.0116,0.1816,0.0692	probably-damaging	292/423	39084536	9,12997	2203	4300	6503	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.875G>A	17.37:g.39084536C>T	ENSP00000209718:p.Arg292His		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R292H	ENST00000209718.3	37	c.875	CCDS11380.1	17	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	24.8	4.566314	0.86439	0.001816	1.16E-4	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.90504	-2.68;-2.68	5.79	5.79	0.91817	Filament (1);	0.000000	0.51477	D	0.000096	D	0.93122	0.7810	L	0.58969	1.84	0.80722	D	1	D	0.69078	0.997	P	0.54629	0.757	D	0.93261	0.6643	10	0.72032	D	0.01	.	20.032	0.97543	0.0:1.0:0.0:0.0	.	292	Q9C075	K1C23_HUMAN	H	292;155	ENSP00000209718:R292H;ENSP00000414056:R155H	ENSP00000209718:R292H	R	-	2	0	KRT23	36338062	1.000000	0.71417	0.999000	0.59377	0.330000	0.28571	7.476000	0.81055	2.743000	0.94032	0.655000	0.94253	CGC	KRT23	-	pfam_IF	ENSG00000108244		0.572	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0	57	0	C			39084536	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.990	T	T	39084536	C	T	39084536	3	4	11	1	0	0	0	0	1	0	0	0	8487	768	27	1	409	1	KRT23	17	39084536	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	831080	39084536	42110674	193	3061											
STAT5A	6776	genome.wustl.edu	37	chr17	40457645	40457645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagactctgtccctacctgtGgttgtcatcgtccacggcag	6	12	10	13	2	2	1	1	0	1	1	5	1	4	1	3	2	1	2	3	2	2	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:40457645G>A	ENST00000345506.4	+	13	2040	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	STAT5A_ENST00000546010.2_Silent_p.V436V|STAT5A_ENST00000587646.1_5'Flank|STAT5A_ENST00000452307.2_Silent_p.V466V|STAT5A_ENST00000588868.1_Intron|STAT5A_ENST00000590949.1_Silent_p.V466V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	466					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CCCTACCTGTGGTTGTCATCG	0.582																																																	0													177	127	144					17																	40457645		2203	4300	6503	SO:0001819	synonymous_variant	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1398G>A	17.37:g.40457645G>A			Q1KLZ6	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.V466	ENST00000345506.4	37	c.1398	CCDS11424.1	17																																																																																			STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000126561		0.582	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	-	0	89	0	G	NM_003152		40457645	1	tier1	-	no_errors	ENST00000345506	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	A	A	40457645	G	A	40457645	2	1	11	1	0	0	0	0	0	0	0	1	15315	1335	47	3		3	STAT5A	17	40457645	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	1373109	40457645	40737565	194	3062											
GPATCH8	23131	genome.wustl.edu	37	chr17	42483347	42483347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgaagggctttttcctGttttttctcatccttgcggg	3	16	10	12	3	1	0	1	0	1	0	4	1	3	0	4	2	1	2	4	2	1	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:42483347G>T	ENST00000591680.1	-	7	595	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	GPATCH8_ENST00000434000.1_Missense_Mutation_p.Q111K	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	189							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCTTTTTCCTGTTTTTTCTCA	0.398																																																	0													78	81	80					17																	42483347		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.565C>A	17.37:g.42483347G>T	ENSP00000467556:p.Gln189Lys		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.Q189K	ENST00000591680.1	37	c.565	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256299	0.59321	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15487	2.42	5.59	4.61	0.57282	.	0.056145	0.64402	N	0.000001	T	0.24431	0.0592	M	0.74467	2.265	0.52501	D	0.999953	B	0.25719	0.132	B	0.21546	0.035	T	0.04621	-1.0938	10	0.62326	D	0.03	-15.1266	15.7983	0.78428	0.0:0.0:0.8628:0.1372	.	189	Q9UKJ3	GPTC8_HUMAN	K	189;111	ENSP00000395016:Q111K	ENSP00000335486:Q189K	Q	-	1	0	GPATCH8	39838873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.343000	0.45638	0.655000	0.94253	CAG	GPATCH8	-	NULL	ENSG00000186566		0.398	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1		0	39	0	G	NM_001002909		42483347	-1			no_errors	ENST00000591680	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	42483347	G	T	42483347	3	4	11	1	0	0	0	0	1	0	0	0	6620	1386	48	3	3951	3	GPATCH8	17	42483347	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2025702	42483347	38711863	195	3063											
CDC27	996	genome.wustl.edu	37	chr17	45234372	45234372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttagataatatggaagttCctgttcccagtgggacagta	11	13	11	6	0	0	1	0	0	0	1	2	3	2	3	2	2	0	4	2	2	5	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:45234372C>T	ENST00000066544.3	-	7	842	c.749G>A	c.(748-750)gGa>gAa	p.G250E	CDC27_ENST00000527547.1_Missense_Mutation_p.G250E|CDC27_ENST00000531206.1_Missense_Mutation_p.G250E|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000446365.2_Missense_Mutation_p.G189E	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TATGGAAGTTCCTGTTCCCAG	0.383																																																	0													54	59	58					17																	45234372		2195	4295	6490	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.749G>A	17.37:g.45234372C>T	ENSP00000066544:p.Gly250Glu		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G250E	ENST00000066544.3	37	c.749	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012896	0.54468	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66815	-0.19;-0.23;0.08;-0.19;0.95	5.44	5.44	0.79542	.	0.058397	0.64402	D	0.000002	T	0.50531	0.1621	N	0.19112	0.55	0.50632	D	0.999885	P;B;B;B	0.34462	0.454;0.435;0.403;0.207	B;B;B;B	0.33799	0.057;0.058;0.17;0.016	T	0.49041	-0.8980	10	0.10111	T	0.7	-23.0399	16.7505	0.85484	0.0:1.0:0.0:0.0	.	189;250;250;250	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	E	250;250;189;250;250	ENSP00000066544:G250E;ENSP00000434614:G250E;ENSP00000392802:G189E;ENSP00000437339:G250E;ENSP00000432105:G250E	ENSP00000066544:G250E	G	-	2	0	CDC27	42589371	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.600000	0.67599	2.555000	0.86185	0.460000	0.39030	GGA	CDC27	-	NULL	ENSG00000004897		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0	99	0	C			45234372	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	missense	7.95	81	7	SNP	1.000	T	T	45234372	C	T	45234372	3	4	11	1	0	0	0	0	1	0	0	0	3073	855	30	3	1795	3	CDC27	17	45234372	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	2751025	45234372	35960838	196	3064											
HEATR6	63897	genome.wustl.edu	37	chr17	58145047	58145047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attccttttcctcctcctctCcttgctggattttctttggt	2	21	5	13	0	2	0	0	0	2	0	7	1	6	1	5	2	1	1	5	2	0	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:58145047C>A	ENST00000184956.6	-	8	1002	c.986G>T	c.(985-987)gGa>gTa	p.G329V	HEATR6_ENST00000585976.1_Missense_Mutation_p.G329V	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	329							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTCCTCCTCTCCTTGCTGGAT	0.428																																																	0													135	131	132					17																	58145047		2203	4300	6503	SO:0001583	missense	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.986G>T	17.37:g.58145047C>A	ENSP00000184956:p.Gly329Val		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G329V	ENST00000184956.6	37	c.986	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056140	0.36277	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.43294	0.95	5.04	4.06	0.47325	Armadillo-type fold (1);	0.348278	0.30227	N	0.010120	T	0.44286	0.1286	L	0.57536	1.79	0.80722	D	1	D;D	0.59767	0.972;0.986	P;P	0.48304	0.573;0.573	T	0.39143	-0.9628	10	0.45353	T	0.12	-7.6405	10.2986	0.43639	0.0:0.7883:0.1352:0.0764	.	176;329	E7ESB9;Q6AI08	.;HEAT6_HUMAN	V	329;176	ENSP00000184956:G329V	ENSP00000184956:G329V	G	-	2	0	HEATR6	55499829	0.000000	0.05858	0.999000	0.59377	0.953000	0.61014	-0.382000	0.07408	1.261000	0.44149	-0.156000	0.13503	GGA	HEATR6	-	superfamily_ARM-type_fold	ENSG00000068097		0.428	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1		0	34	0	C	NM_022070		58145047	-1			no_errors	ENST00000184956	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A	A	58145047	C	A	58145047	3	1	11	1	0	0	0	0	1	0	0	0	7060	855	30	3	2611	3	HEATR6	17	58145047	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	12910675	58145047	23050163	197	3065											
PSMD12	5718	genome.wustl.edu	37	chr17	65346353	65346353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaaatttaccttgccttCggtaaccattcgtagagtat	12	13	7	9	2	0	2	0	0	0	2	2	2	0	2	3	1	3	3	3	1	6	8			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:65346353C>T	ENST00000356126.3	-	4	504	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	PSMD12_ENST00000357146.4_Missense_Mutation_p.E113K|PSMD12_ENST00000581618.1_5'Flank	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	133					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					ACCTTGCCTTCGGTAACCATT	0.328																																																	0													76	70	72					17																	65346353		2203	4300	6503	SO:0001583	missense	0			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.397G>A	17.37:g.65346353C>T	ENSP00000348442:p.Glu133Lys		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.E133K	ENST00000356126.3	37	c.397	CCDS11669.1	17	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836241	0.71373	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.44083	0.93;0.93	4.86	4.86	0.63082	.	0.050770	0.85682	D	0.000000	T	0.38904	0.1058	L	0.56769	1.78	0.58432	D	0.999999	P;P	0.40875	0.516;0.731	B;B	0.32583	0.148;0.148	T	0.39800	-0.9596	10	0.38643	T	0.18	-12.5453	17.9728	0.89118	0.0:1.0:0.0:0.0	.	113;133	A6NP15;O00232	.;PSD12_HUMAN	K	133;113	ENSP00000348442:E133K;ENSP00000349667:E113K	ENSP00000348442:E133K	E	-	1	0	PSMD12	62776815	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	7.083000	0.76859	2.400000	0.81607	0.467000	0.42956	GAA	PSMD12	-	NULL	ENSG00000197170		0.328	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD12	HGNC	protein_coding	OTTHUMT00000277103.1		0	42	0	C	NM_002816, NM_174871		65346353	-1			no_errors	ENST00000356126	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	65346353	C	T	65346353	3	4	11	1	0	0	0	0	1	0	0	0	12737	893	31	1	1005	1	PSMD12	17	65346353	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	7201306	65346353	15848857	198	3066											
RECQL5	9400	genome.wustl.edu	37	chr17	73627067	73627067	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgacctgggggtacaaaTtcttctatcttggggtcttt	7	16	10	8	0	4	1	0	1	4	0	4	1	4	1	1	4	2	1	1	4	4	7			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:73627067T>C	ENST00000317905.5	-	11	1731	c.1572A>G	c.(1570-1572)gaA>gaG	p.E524E	SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.E497E	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	524	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGGTACAAATTCTTCTATCT	0.592								Other identified genes with known or suspected DNA repair function																																									0													38	42	40					17																	73627067		1866	4108	5974	SO:0001819	synonymous_variant	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1572A>G	17.37:g.73627067T>C			Q9H0B1|Q9P1W7|Q9UNC8	Silent	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E524	ENST00000317905.5	37	c.1572	CCDS42380.1	17																																																																																			RECQL5	-	NULL	ENSG00000108469		0.592	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	-	0	109	0	T	NM_004259		73627067	-1	tier1	-	no_errors	ENST00000317905	ensembl	human	known	74_37	silent	90.62	9	87	SNP	0.827	C	C	73627067	T	C	73627067	2	2	11	1	0	0	0	0	0	0	0	1	13248	1490	52	4		4	RECQL5	17	73627067	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	8280714	73627067	7568143	199	3067											
C17orf56	146705	genome.wustl.edu	37	chr17	79205688	79205688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccggctggcccctgaatgGctgtcgctgccggaatgact	5	9	13	14	3	0	2	0	2	0	0	2	3	1	3	4	4	1	3	4	4	2	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr17:79205688G>A	ENST00000300714.3	-	8	717	c.660C>T	c.(658-660)agC>agT	p.S220S	ENTHD2_ENST00000374769.2_Silent_p.S136S|AC027601.1_ENST00000575922.1_RNA|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	220	Ser-rich.					cytoplasmic vesicle (GO:0031410)											CCCCTGAATGGCTGTCGCTGC	0.652																																																	0													51	57	55					17																	79205688		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.660C>T	17.37:g.79205688G>A			Q6ZQU0|Q6ZSQ9	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.S220	ENST00000300714.3	37	c.660	CCDS11779.1	17																																																																																			ENTHD2	-	NULL	ENSG00000167302		0.652	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	-	0	67	0	G	NM_144679		79205688	-1	tier1	-	no_errors	ENST00000300714	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	79205688	G	A	79205688	2	1	11	1	0	0	0	0	0	0	0	1	1870	1194	42	3		3	C17orf56	17	79205688	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	5578621	79205688	1989522	200	3068											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14764088	14764088	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaaagcaagtacaaaTggtaagatgcttgagtgaac	17	9	9	6	0	1	3	0	2	1	1	1	3	1	3	0	1	5	4	0	1	8	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr18:14764088T>C	ENST00000358984.4	+	7	1404	c.1224T>C	c.(1222-1224)aaT>aaC	p.N408N	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Splice_Site_p.N408N	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	408										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAAGTACAAATGGTAAGATGC	0.368																																																	0													11	9	10					18																	14764088		691	1589	2280	SO:0001630	splice_region_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1225+1T>C	18.37:g.14764088T>C			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N408	ENST00000358984.4	37	c.1224	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.368	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	36	0	T	NM_001145029	Silent	14764088	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.004	C	C	14764088	T	C	14764088	5	2	11	1	0	0	0	0	0	0	1	0	659	1478	51	4	1250	4	ANKRD30B	18	14764088	Splice_Site	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09		14764088	63313160	201	3069											
ASXL3	80816	genome.wustl.edu	37	chr18	31325003	31325003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgatgccctgaagagagtcCctggtgcagggagctcaggc	8	6	15	12	1	1	2	1	1	0	1	2	5	2	3	3	3	3	2	3	3	1	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr18:31325003C>A	ENST00000269197.5	+	12	5191	c.5191C>A	c.(5191-5193)Cct>Act	p.P1731T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1731					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGAGAGTCCCTGGTGCAGG	0.527																																																	0													72	75	74					18																	31325003		2028	4191	6219	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5191C>A	18.37:g.31325003C>A	ENSP00000269197:p.Pro1731Thr		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.P1731T	ENST00000269197.5	37	c.5191	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	0.184	-1.059878	0.01950	.	.	ENSG00000141431	ENST00000269197	T	0.14766	2.48	5.86	4.94	0.65067	.	.	.	.	.	T	0.08670	0.0215	N	0.17082	0.46	0.28474	N	0.915297	B	0.21071	0.051	B	0.14023	0.01	T	0.10154	-1.0642	9	0.30854	T	0.27	.	8.9544	0.35809	0.2801:0.6008:0.1191:0.0	.	1731	Q9C0F0	ASXL3_HUMAN	T	1731	ENSP00000269197:P1731T	ENSP00000269197:P1731T	P	+	1	0	ASXL3	29579001	0.015000	0.18098	0.177000	0.23020	0.008000	0.06430	0.561000	0.23515	2.775000	0.95449	0.655000	0.94253	CCT	ASXL3	-	NULL	ENSG00000141431		0.527	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	31	0	C			31325003	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.552	A	A	31325003	C	A	31325003	3	1	11	1	0	0	0	0	1	0	0	0	1069	623	22	3	5237	3	ASXL3	18	31325003	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	16560915	31325003	46752245	202	3070											
CD226	10666	genome.wustl.edu	37	chr18	67563060	67563060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgatgacgctccaccttcCgtggctgcagttgctcacta	7	10	10	14	3	1	1	1	1	0	0	3	3	3	1	3	1	2	5	3	1	1	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr18:67563060C>T	ENST00000280200.4	-	4	872	c.604G>A	c.(604-606)Gga>Aga	p.G202R	CD226_ENST00000577287.1_Missense_Mutation_p.G47R|CD226_ENST00000582621.1_Missense_Mutation_p.G202R|CD226_ENST00000581982.1_Missense_Mutation_p.G47R	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	202	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CTCCACCTTCCGTGGCTGCAG	0.537																																					NSCLC(184;838 2130 8673 21498 50749)												0													122	107	112					18																	67563060		2203	4300	6503	SO:0001583	missense	0			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	16961	protein-coding gene	gene with protein product		605397	"CD226 antigen"			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.604G>A	18.37:g.67563060C>T	ENSP00000280200:p.Gly202Arg		B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G202R	ENST00000280200.4	37	c.604	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302663	0.40795	.	.	ENSG00000150637	ENST00000280200	T	0.23754	1.89	4.82	3.01	0.34805	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.099800	0.06666	N	0.765315	T	0.24890	0.0604	M	0.62723	1.935	0.09310	N	1	P	0.50066	0.931	B	0.39706	0.307	T	0.18555	-1.0333	10	0.25106	T	0.35	.	5.861	0.18747	0.1907:0.712:0.0:0.0973	.	202	Q15762	CD226_HUMAN	R	202	ENSP00000280200:G202R	ENSP00000280200:G202R	G	-	1	0	CD226	65714040	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.035000	0.12205	0.725000	0.32318	0.650000	0.86243	GGA	CD226	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000150637		0.537	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	-	0	53	0	C	NM_006566		67563060	-1	tier1	-	no_errors	ENST00000280200	ensembl	human	known	74_37	missense	45.26	52	43	SNP	0.004	T	T	67563060	C	T	67563060	3	4	11	1	0	0	0	0	1	0	0	0	2993	661	23	1	422	1	CD226	18	67563060	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	36238057	67563060	10514188	203	3071											
GAMT	2593	genome.wustl.edu	37	chr19	1399821	1399821	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtggggcccagtcccGgagccgctggaagacgccgt	5	5	16	15	5	0	1	0	0	0	1	1	3	1	3	5	4	2	1	5	4	1	0	rs552210450	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:1399821G>T	ENST00000252288.2	-	2	364	c.298C>A	c.(298-300)Cgg>Agg	p.R100R	GAMT_ENST00000447102.3_Silent_p.R100R	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	100	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	GCCCAGTCCCGGAGCCGCTGG	0.657																																					Colon(167;1531 1939 13427 28842 31956)												0													28	26	27					19																	1399821		2182	4286	6468	SO:0001819	synonymous_variant	0			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.298C>A	19.37:g.1399821G>T			A8K0A0|Q53Y34|Q8WVJ1	Silent	SNP	NULL	p.R100	ENST00000252288.2	37	c.298	CCDS12064.1	19																																																																																			GAMT	-	NULL	ENSG00000130005		0.657	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1		0	48	0	G	NM_138924		1399821	-1			no_errors	ENST00000447102	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.998	T	T	1399821	G	T	1399821	2	4	11	1	0	0	0	0	0	0	0	1	6256	1115	39	2		2	GAMT	19	1399821	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		1399821	57729162	204	3072											
DPP9	91039	genome.wustl.edu	37	chr19	4676632	4676632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatagtgctcgcccgactCggggcagcgaatactgtgtc	7	10	12	12	4	1	0	1	0	0	0	4	2	1	0	1	2	3	2	1	2	3	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:4676632C>T	ENST00000598800.1	-	23	3041	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000262960.9_Missense_Mutation_p.E875K|DPP9_ENST00000594671.1_Intron			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	846						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		TCGCCCGACTCGGGGCAGCGA	0.632																																																	0													26	31	29					19																	4676632		2039	4187	6226	SO:0001583	missense	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2536G>A	19.37:g.4676632C>T	ENSP00000469603:p.Glu846Lys		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.E875K	ENST00000598800.1	37	c.2623		19	.	.	.	.	.	.	.	.	.	.	C	35	5.482888	0.96307	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.28666	1.6	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.37750	1.13	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.19160	-1.0314	10	0.26408	T	0.33	-29.5785	15.9525	0.79850	0.0:1.0:0.0:0.0	.	875	Q1ZZB8	.	K	954;816;875	ENSP00000262960:E875K	ENSP00000262960:E875K	E	-	1	0	DPP9	4627632	1.000000	0.71417	0.997000	0.53966	0.864000	0.49448	7.668000	0.83897	2.066000	0.61787	0.561000	0.74099	GAG	DPP9	-	pfam_Peptidase_S9	ENSG00000142002		0.632	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	-	0	103	0	C			4676632	-1	tier1	-	no_errors	ENST00000262960	ensembl	human	known	74_37	missense	90.62	9	87	SNP	1.000	T	T	4676632	C	T	4676632	3	4	11	1	0	0	0	0	1	0	0	0	4747	893	31	1	59	1	DPP9	19	4676632	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	3276811	4676632	54452351	205	3073											
RAB11B	9230	genome.wustl.edu	37	chr19	8468391	8468391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatcagcgtgccgccCaccacggacggacagaagcc	10	3	13	15	4	1	1	1	0	0	1	1	4	1	4	4	3	3	0	4	3	1	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:8468391C>T	ENST00000328024.6	+	5	824	c.606C>T	c.(604-606)ccC>ccT	p.P202P		NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	202					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						GCGTGCCGCCCACCACGGACG	0.662																																																	0													120	104	110					19																	8468391		2203	4300	6503	SO:0001819	synonymous_variant	0			X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.606C>T	19.37:g.8468391C>T			A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P202	ENST00000328024.6	37	c.606	CCDS12201.1	19																																																																																			RAB11B	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000185236		0.662	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11B	HGNC	protein_coding	OTTHUMT00000460343.2	-	0	111	0	C	NM_004218		8468391	1	tier1	-	no_errors	ENST00000328024	ensembl	human	known	74_37	silent	81.31	20	87	SNP	1.000	T	T	8468391	C	T	8468391	2	4	11	1	0	0	0	0	0	0	0	1	12937	581	21	3		3	RAB11B	19	8468391	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	3791759	8468391	50660592	206	3074											
ICAM5	7087	genome.wustl.edu	37	chr19	10404937	10404937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacccggtatctacgtcTgcaacgccaccaaccgccac	9	6	8	18	4	2	0	0	0	2	0	2	0	2	0	5	2	4	3	5	2	4	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:10404937T>C	ENST00000221980.4	+	8	1996	c.1933T>C	c.(1933-1935)Tgc>Cgc	p.C645R		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	645	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TATCTACGTCTGCAACGCCAC	0.692																																																	0													92	109	103					19																	10404937		2201	4300	6501	SO:0001583	missense	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1933T>C	19.37:g.10404937T>C	ENSP00000221980:p.Cys645Arg		Q9Y6F3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.C645R	ENST00000221980.4	37	c.1933	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	T	13.27	2.186153	0.38609	.	.	ENSG00000105376	ENST00000221980	D	0.81499	-1.5	5.21	5.21	0.72293	Immunoglobulin-like fold (1);	0.363262	0.23916	N	0.043300	D	0.84705	0.5531	M	0.83774	2.66	0.80722	D	1	P	0.44578	0.838	P	0.47470	0.548	D	0.86881	0.2042	10	0.87932	D	0	-18.9982	11.4757	0.50297	0.0:0.0:0.0:1.0	.	645	Q9UMF0	ICAM5_HUMAN	R	645	ENSP00000221980:C645R	ENSP00000221980:C645R	C	+	1	0	ICAM5	10265937	0.985000	0.35326	0.989000	0.46669	0.033000	0.12548	1.733000	0.38156	1.968000	0.57251	0.448000	0.29417	TGC	ICAM5	-	smart_Ig_sub	ENSG00000105376		0.692	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0	66	0	T	NM_003259		10404937	1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.997	C	C	10404937	T	C	10404937	3	2	11	1	0	0	0	0	1	0	0	0	7510	1580	55	4	1963	4	ICAM5	19	10404937	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	1936546	10404937	48724046	207	3075											
ZNF439	90594	genome.wustl.edu	37	chr19	11979379	11979379	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcactctggagaaagaccTtataaatataagatatatgg	17	11	8	5	0	1	3	0	0	1	3	1	4	1	3	1	2	1	1	1	2	8	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:11979379T>A	ENST00000304030.2	+	3	1695	c.1495T>A	c.(1495-1497)Tta>Ata	p.L499I	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.L363I	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAGAAAGACCTTATAAATATA	0.338																																																	0													36	40	39					19																	11979379		2195	4299	6494	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1495T>A	19.37:g.11979379T>A	ENSP00000305077:p.Leu499Ile		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L499I	ENST00000304030.2	37	c.1495	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	t	0.052	-1.246807	0.01481	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.08008	3.14;3.24	0.823	-0.365	0.12549	.	.	.	.	.	T	0.04907	0.0132	L	0.43152	1.355	0.09310	N	1	B	0.21225	0.053	B	0.13407	0.009	T	0.46005	-0.9222	9	0.02654	T	1	.	2.2391	0.04016	0.2472:0.1975:0.0:0.5552	.	499	Q8NDP4	ZN439_HUMAN	I	363;499	ENSP00000395632:L363I;ENSP00000305077:L499I	ENSP00000305077:L499I	L	+	1	2	ZNF439	11840379	.	.	0.011000	0.14972	0.026000	0.11368	.	.	-0.180000	0.10637	0.163000	0.16589	TTA	ZNF439	-	NULL	ENSG00000171291		0.338	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	-	0	49	0	T			11979379	1	tier1	-	no_errors	ENST00000304030	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.299	A	A	11979379	T	A	11979379	3	1	11	1	0	0	0	0	1	0	0	0	17959	1606	56	5	1505	5	ZNF439	19	11979379	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	1574442	11979379	47149604	208	3076											
OR7C2	26658	genome.wustl.edu	37	chr19	15052983	15052983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcctccgtcctaagagTatctgccagaggccagcaca	9	10	8	14	1	2	2	0	0	2	2	5	2	4	2	5	1	2	2	5	1	2	3	rs78307433|rs3044711|rs397816267	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:15052983T>C	ENST00000248072.3	+	1	683	c.683T>C	c.(682-684)gTa>gCa	p.V228A		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					GTCCTAAGAGTATCTGCCAGA	0.468																																																	0													168	156	160					19																	15052983		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.683T>C	19.37:g.15052983T>C	ENSP00000248072:p.Val228Ala		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V228A	ENST00000248072.3	37	c.683	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	t	12.45	1.940332	0.34283	.	.	ENSG00000127529	ENST00000248072	T	0.00115	8.71	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.356137	0.19827	U	0.105170	T	0.00210	0.0006	L	0.56396	1.775	0.09310	N	1	B	0.25272	0.122	B	0.32980	0.156	T	0.22730	-1.0208	10	0.87932	D	0	.	10.9678	0.47422	0.0:0.0:0.0:1.0	.	228	O60412	OR7C2_HUMAN	A	228	ENSP00000248072:V228A	ENSP00000248072:V228A	V	+	2	0	OR7C2	14913983	0.075000	0.21258	0.003000	0.11579	0.004000	0.04260	1.824000	0.39072	1.770000	0.52166	0.421000	0.28195	GTA	OR7C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127529		0.468	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1		0	69	0	T			15052983	1			no_errors	ENST00000248072	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.012	C	C	15052983	T	C	15052983	3	2	11	1	0	0	0	0	1	0	0	0	11257	1638	57	4	685	4	OR7C2	19	15052983	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	3073604	15052983	44076000	209	3077											
MAP1S	55201	genome.wustl.edu	37	chr19	17838519	17838519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacaggaacgggcaggtGggctgggggccgaggagacg	8	3	22	8	3	1	1	1	0	0	1	1	4	1	2	1	8	1	2	1	8	1	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:17838519G>T	ENST00000324096.4	+	5	2477	c.2326G>T	c.(2326-2328)Ggg>Tgg	p.G776W	MAP1S_ENST00000544059.2_Missense_Mutation_p.G750W|MAP1S_ENST00000597681.1_3'UTR|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	776	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACGGGCAGGTGGGCTGGGGGC	0.687																																																	0													18	19	19					19																	17838519		2194	4295	6489	SO:0001583	missense	0			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2326G>T	19.37:g.17838519G>T	ENSP00000325313:p.Gly776Trp		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.G776W	ENST00000324096.4	37	c.2326	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294609	0.40594	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.20881	2.04;2.04	4.31	1.88	0.25563	.	0.506480	0.16592	N	0.207720	T	0.29158	0.0725	L	0.39898	1.24	0.09310	N	1	D;D	0.53619	0.961;0.961	P;P	0.56278	0.639;0.795	T	0.07347	-1.0777	10	0.87932	D	0	-5.0589	11.3241	0.49438	0.0:0.3543:0.6457:0.0	.	750;776	B4DH53;Q66K74	.;MAP1S_HUMAN	W	776;750	ENSP00000325313:G776W;ENSP00000439243:G750W	ENSP00000325313:G776W	G	+	1	0	MAP1S	17699519	0.038000	0.19896	0.002000	0.10522	0.287000	0.27160	1.264000	0.33015	0.744000	0.32741	0.655000	0.94253	GGG	MAP1S	-	NULL	ENSG00000130479		0.687	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1		0	9	0	G	NM_018174		17838519	1			no_errors	ENST00000324096	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.004	T	T	17838519	G	T	17838519	3	4	11	1	0	0	0	0	1	0	0	0	9272	1348	47	3	2344	3	MAP1S	19	17838519	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2785536	17838519	41290464	210	3078											
FCHO1	23149	genome.wustl.edu	37	chr19	17898537	17898537	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccgctctcagggcccagCacacccagccccgtggctgc	6	4	12	19	2	1	0	1	0	1	0	2	1	1	0	5	2	4	3	5	2	0	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:17898537C>T	ENST00000596536.1	+	28	2812	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	FCHO1_ENST00000595033.1_Silent_p.S793S|FCHO1_ENST00000597512.1_Silent_p.S850S|FCHO1_ENST00000539407.1_Silent_p.S843S|FCHO1_ENST00000252771.7_Silent_p.S843S|FCHO1_ENST00000389133.4_Silent_p.S843S|FCHO1_ENST00000600676.1_Silent_p.S843S|FCHO1_ENST00000596951.1_Silent_p.S843S|FCHO1_ENST00000594202.1_Silent_p.S843S	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	843	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGGGCCCAGCACACCCAGCC	0.687																																																	0													24	20	21					19																	17898537		2197	4296	6493	SO:0001819	synonymous_variant	0			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2529C>T	19.37:g.17898537C>T			A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.S843	ENST00000596536.1	37	c.2529	CCDS32955.1	19																																																																																			FCHO1	-	superfamily_Clathrin_mu_C	ENSG00000130475		0.687	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2		0	101	0	C	NM_015122		17898537	1			no_errors	ENST00000252771	ensembl	human	known	74_37	silent	5.62	84	5	SNP	1.000	T	T	17898537	C	T	17898537	2	4	11	1	0	0	0	0	0	0	0	1	5809	709	25	3		3	FCHO1	19	17898537	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	60018	17898537	41230446	211	3079											
SLC1A5	6510	genome.wustl.edu	37	chr19	47287780	47287780	+	Frame_Shift_Del	DEL	A	A	-																															ccctgaggactcactgagcgAaaggctgctgacaccaggtt																										TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:47287780delA	ENST00000542575.2	-	2	1231	c.603delT	c.(601-603)tttfs	p.F201fs	SLC1A5_ENST00000412532.2_5'UTR|SLC1A5_ENST00000434726.2_Intron|SLC1A5_ENST00000594991.1_Frame_Shift_Del_p.F25fs	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	201					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCACTGAGCGAAAGGCTGCTG	0.552																																																	0													128	126	127					19																	47287780		2203	4300	6503	SO:0001589	frameshift_variant	0			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.603delT	19.37:g.47287780delA	ENSP00000444408:p.Phe201fs		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Frame_Shift_Del	DEL	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R202fs	ENST00000542575.2	37	c.603	CCDS12692.1	19																																																																																			SLC1A5	-	pfam_Na-dicarboxylate_symporter	ENSG00000105281		0.552	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1		0	46	0	A			47287780	-1	tier1		no_errors	ENST00000542575	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	47287780	A	-	47287780	7	5	11	1	0	1	0	1	0	0	0	0	14480	243	9	0	1050	0	SLC1A5	19	47287780	Frame_Shift_Del	DEL	A	TCGA-2H-A9GQ-01A-11D-A37C-09	29389243	47287780	11841203	212	3080											
ALDH16A1	126133	genome.wustl.edu	37	chr19	49963104	49963104	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaggctgggagcccatGggtgagaccctggagtccct	6	7	16	12	0	0	1	0	1	0	1	1	4	1	3	3	5	1	2	3	5	0	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:49963104G>T	ENST00000293350.4	+	4	661	c.498G>T	c.(496-498)atG>atT	p.M166I	CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Splice_Site_p.M1I|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000455361.2_Splice_Site_p.M166I	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	166						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGAGCCCATGGGTGAGACCC	0.587																																																	0													31	29	30					19																	49963104		2203	4298	6501	SO:0001630	splice_region_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.499+1G>T	19.37:g.49963104G>T			B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.M166I	ENST00000293350.4	37	c.498	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241890	0.39598	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000433981	T;T;T	0.26957	1.7;1.7;1.7	5.38	2.91	0.33838	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.523762	0.22576	N	0.058277	T	0.08492	0.0211	N	0.00926	-1.1	0.53688	D	0.99997	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.006	T	0.10291	-1.0636	10	0.40728	T	0.16	-9.6641	9.1807	0.37141	0.1807:0.0:0.8193:0.0	.	166;166	B4DLQ1;Q8IZ83	.;A16A1_HUMAN	I	166;166;1	ENSP00000293350:M166I;ENSP00000410142:M166I;ENSP00000398675:M1I	ENSP00000293350:M166I	M	+	3	0	ALDH16A1	54654916	0.999000	0.42202	1.000000	0.80357	0.939000	0.58152	1.127000	0.31357	1.237000	0.43756	0.585000	0.79938	ATG	ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	ENSG00000161618		0.587	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	-	0	80	0	G	NM_153329	Missense_Mutation	49963104	1	tier1	-	no_errors	ENST00000293350	ensembl	human	known	74_37	missense	87.72	7	50	SNP	0.997	T	T	49963104	G	T	49963104	5	4	11	1	0	0	0	0	0	0	1	0	488	1362	47	3	512	3	ALDH16A1	19	49963104	Splice_Site	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2675324	49963104	9165879	213	3081											
HAS1	3036	genome.wustl.edu	37	chr19	52222714	52222714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtcagcgaagacctcGcggaacatgtcgaccatgta	10	8	10	13	5	1	1	1	0	0	1	5	4	2	2	3	1	2	1	3	1	3	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:52222714G>A	ENST00000222115.1	-	2	481	c.447C>T	c.(445-447)cgC>cgT	p.R149R	HAS1_ENST00000594621.1_Silent_p.R3R|HAS1_ENST00000601714.1_Silent_p.R156R|HAS1_ENST00000540069.2_Silent_p.R148R	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	149					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGAAGACCTCGCGGAACATGT	0.726																																					NSCLC(132;636 2450 45807 47979)												0													11	10	11					19																	52222714		2082	4022	6104	SO:0001819	synonymous_variant	0			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.447C>T	19.37:g.52222714G>A			Q14470|Q9NS49	Silent	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.R156	ENST00000222115.1	37	c.468	CCDS12838.1	19																																																																																			HAS1	-	NULL	ENSG00000105509		0.726	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1		0	71	0	G	NM_001523		52222714	-1			no_errors	ENST00000601714	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.993	A	A	52222714	G	A	52222714	2	1	11	1	0	0	0	0	0	0	0	1	6988	1074	38	1		1	HAS1	19	52222714	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2259610	52222714	6906269	214	3082											
ZNF814	730051	genome.wustl.edu	37	chr19	58384289	58384289	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttataaggcttttctccAgtgtgaactctcttgtgttt	7	19	7	8	0	2	1	0	1	2	0	4	1	2	1	1	1	1	2	1	1	3	7	rs529492962		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:58384289A>G	ENST00000435989.2	-	3	2703	c.2469T>C	c.(2467-2469)acT>acC	p.T823T	ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	823					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GCTTTTCTCCAGTGTGAACTC	0.398																																																	0													114	104	107					19																	58384289		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.2469T>C	19.37:g.58384289A>G			A6NF35	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T823	ENST00000435989.2	37	c.2469	CCDS46212.1	19																																																																																			ZNF814	-	pfscan_Znf_C2H2	ENSG00000204514		0.398	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	-	0	115	0	A	XM_001725708		58384289	-1	tier1	-	no_errors	ENST00000435989	ensembl	human	known	74_37	silent	42.86	48	36	SNP	0.981	G	G	58384289	A	G	58384289	2	3	11	1	0	0	0	0	0	0	0	1	18224	175	7	4		4	ZNF814	19	58384289	Silent	SNP	A	TCGA-2H-A9GQ-01A-11D-A37C-09	6161575	58384289	744694	215	3083											
TRIM28	10155	genome.wustl.edu	37	chr19	59060995	59060995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccacctggactgtcacctgCcggccctgcaggatgtacca	7	8	10	16	1	1	0	1	0	0	0	2	2	2	2	6	3	3	2	6	3	1	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr19:59060995C>T	ENST00000253024.5	+	13	2249	c.1960C>T	c.(1960-1962)Ccg>Tcg	p.P654S	TRIM28_ENST00000341753.6_Missense_Mutation_p.P572S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	654					convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGTCACCTGCCGGCCCTGCA	0.557																																																	0													106	105	106					19																	59060995		2203	4300	6503	SO:0001583	missense	0				CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	16384	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 157"	601742	"tripartite motif-containing 28"			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1960C>T	19.37:g.59060995C>T	ENSP00000253024:p.Pro654Ser		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P654S	ENST00000253024.5	37	c.1960	CCDS12985.1	19	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659568	0.67586	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	D;D	0.85484	-1.99;-1.99	4.7	4.7	0.59300	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.072552	0.52532	D	0.000066	D	0.92001	0.7466	M	0.78916	2.43	0.48830	D	0.999714	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.995;0.999	D	0.93063	0.6476	10	0.87932	D	0	-9.0923	15.5749	0.76368	0.0:1.0:0.0:0.0	.	572;654;654	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	S	654;572	ENSP00000253024:P654S;ENSP00000342232:P572S	ENSP00000253024:P654S	P	+	1	0	TRIM28	63752807	1.000000	0.71417	0.997000	0.53966	0.581000	0.36288	4.054000	0.57434	2.347000	0.79759	0.436000	0.28706	CCG	TRIM28	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000130726		0.557	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM28	HGNC	protein_coding	OTTHUMT00000467074.1	-	0	43	0	C	NM_005762		59060995	1	tier1	-	no_errors	ENST00000253024	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	59060995	C	T	59060995	3	4	11	1	0	0	0	0	1	0	0	0	16550	739	26	3	2010	3	TRIM28	19	59060995	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	676706	59060995	67988	216	3084											
ANGPT4	51378	genome.wustl.edu	37	chr20	853726	853726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcgtggtagtagacgccGttgaggtttgacaggccaca	9	8	16	8	3	0	3	0	2	0	1	0	4	0	4	2	4	1	4	2	4	2	4	rs375636235		TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:853726G>A	ENST00000381922.3	-	9	1491	c.1389C>T	c.(1387-1389)aaC>aaT	p.N463N	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	463	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.N463N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						AGTAGACGCCGTTGAGGTTTG	0.612																																					Pancreas(181;481 2077 3259 31286 49856)												1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	84	76	79		1389	-8.8	0.3	20		79	0,8600		0,0,4300	no	coding-synonymous	ANGPT4	NM_015985.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		463/504	853726	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1389C>T	20.37:g.853726G>A			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.N463	ENST00000381922.3	37	c.1389	CCDS13009.1	20																																																																																			ANGPT4	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000101280		0.612	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	-	0	35	0	G	NM_015985		853726	-1	tier1	-	no_errors	ENST00000381922	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.183	A	A	853726	G	A	853726	2	1	11	1	0	0	0	0	0	0	0	1	612	1136	40	1		1	ANGPT4	20	853726	Silent	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09		853726	62171794	217	3085											
ADRA1D	146	genome.wustl.edu	37	chr20	4228553	4228553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaagacacccacgacgatgGccagagtcttggccgctttc	9	7	11	14	4	1	2	0	0	1	2	2	5	1	2	3	2	0	1	3	2	1	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:4228553G>A	ENST00000379453.4	-	1	1168	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	351					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACGACGATGGCCAGAGTCTT	0.642																																																	0													72	56	61					20																	4228553		2201	4300	6501	SO:0001583	missense	0			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1052C>T	20.37:g.4228553G>A	ENSP00000368766:p.Ala351Val		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM	p.A351V	ENST00000379453.4	37	c.1052	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965709	0.74131	.	.	ENSG00000171873	ENST00000379453	T	0.56941	0.43	4.69	4.69	0.59074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	L	0.38733	1.17	0.49915	D	0.999838	D	0.76494	0.999	D	0.76575	0.988	T	0.66681	-0.5862	10	0.87932	D	0	.	15.1629	0.72798	0.0:0.0:1.0:0.0	.	351	P25100	ADA1D_HUMAN	V	351	ENSP00000368766:A351V	ENSP00000368766:A351V	A	-	2	0	ADRA1D	4176553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.567000	0.60850	2.454000	0.82982	0.563000	0.77884	GCC	ADRA1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171873		0.642	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2		0	46	0	G	NM_000678		4228553	-1			no_errors	ENST00000379453	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	4228553	G	A	4228553	3	1	11	1	0	0	0	0	1	0	0	0	336	1203	42	3	674	3	ADRA1D	20	4228553	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	3374827	4228553	58796967	218	3086											
PLCB4	5332	genome.wustl.edu	37	chr20	9434087	9434087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgactcatgagaaaatcctaGagaaggcaatgaagaagaag	19	5	11	6	1	1	5	1	2	0	4	2	8	2	5	1	1	0	1	1	1	8	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:9434087G>C	ENST00000378493.1	+	29	2953	c.2938G>C	c.(2938-2940)Gag>Cag	p.E980Q	PLCB4_ENST00000414679.2_Missense_Mutation_p.E992Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.E992Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E980Q|PLCB4_ENST00000278655.4_Missense_Mutation_p.E980Q|PLCB4_ENST00000334005.3_Missense_Mutation_p.E980Q			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	980					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAAATCCTAGAGAAGGCAAT	0.388																																																	0													132	124	127					20																	9434087		2203	4300	6503	SO:0001583	missense	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2938G>C	20.37:g.9434087G>C	ENSP00000367754:p.Glu980Gln		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E980Q	ENST00000378493.1	37	c.2938	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517401	0.64634	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.22336	2.16;2.17;1.96;1.96;2.16;1.99	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.16478	0.41	0.80722	D	1	P;P;D;P	0.57899	0.704;0.646;0.981;0.692	B;B;D;B	0.67900	0.343;0.29;0.954;0.366	T	0.05305	-1.0893	10	0.22706	T	0.39	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	992;827;980;980	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Q	980;992;980;980;980;828	ENSP00000334105:E980Q;ENSP00000367734:E992Q;ENSP00000278655:E980Q;ENSP00000367754:E980Q;ENSP00000367762:E980Q;ENSP00000390616:E828Q	ENSP00000278655:E980Q	E	+	1	0	PLCB4	9382087	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.476000	0.97823	2.708000	0.92522	0.650000	0.86243	GAG	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.388	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	-	0	75	0	G			9434087	1	tier1	-	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	61.73	31	50	SNP	1.000	C	C	9434087	G	C	9434087	3	2	11	1	0	0	0	0	1	0	0	0	12069	943	33	5	3092	5	PLCB4	20	9434087	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	5205534	9434087	53591433	219	3087											
BPIL1	80341	genome.wustl.edu	37	chr20	31601666	31601666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggaactgctggctgacaCccgcgtgacccagagctcca	8	7	12	14	2	0	3	0	2	0	1	1	4	1	4	3	2	3	3	3	2	1	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:31601666C>A	ENST00000170150.3	+	5	554	c.359C>A	c.(358-360)aCc>aAc	p.T120N		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	120						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTGGCTGACACCCGCGTGACC	0.637																																																	0													50	49	49					20																	31601666		2203	4300	6503	SO:0001583	missense	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.359C>A	20.37:g.31601666C>A	ENSP00000170150:p.Thr120Asn		Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.T120N	ENST00000170150.3	37	c.359	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815186	0.32053	.	.	ENSG00000078898	ENST00000170150	T	0.05513	3.43	3.37	-1.96	0.07525	.	1.744170	0.03087	N	0.159218	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	B	0.33919	0.432	B	0.35931	0.214	T	0.39231	-0.9624	10	0.49607	T	0.09	-1.6418	7.3846	0.26874	0.0:0.3752:0.0:0.6248	.	120	Q8N4F0	BPIB2_HUMAN	N	120	ENSP00000170150:T120N	ENSP00000170150:T120N	T	+	2	0	BPIFB2	31065327	0.000000	0.05858	0.000000	0.03702	0.296000	0.27459	-0.572000	0.05881	-0.401000	0.07644	-0.339000	0.08088	ACC	BPIFB2	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom	ENSG00000078898		0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	-	0	42	0	C	NM_025227		31601666	1	tier1	-	no_errors	ENST00000170150	ensembl	human	known	74_37	missense	41.67	42	30	SNP	0.000	A	A	31601666	C	A	31601666	3	1	11	1	0	0	0	0	1	0	0	0	1495	507	18	3	373	3	BPIL1	20	31601666	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	22167579	31601666	31423854	220	3088											
CEP250	11190	genome.wustl.edu	37	chr20	34061830	34061830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccagggccagaaggaGgaacagcaggaggagctgca	12	3	16	10	0	1	1	0	0	1	1	1	5	1	5	2	5	5	3	2	5	2	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:34061830G>T	ENST00000397527.1	+	14	2244	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA|CEP250_ENST00000342580.4_Missense_Mutation_p.E508D|RP3-477O4.14_ENST00000444933.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	508	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCAGAAGGAGGAACAGCAGG	0.612																																																	0													33	35	34					20																	34061830		2203	4300	6503	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.1524G>T	20.37:g.34061830G>T	ENSP00000380661:p.Glu508Asp		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E508D	ENST00000397527.1	37	c.1524	CCDS13255.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.282356|5.282356	0.95489|0.95489	.|.	.|.	ENSG00000126001|ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000425934|ENST00000425096	T;T;T|.	0.26957|.	2.64;2.68;1.7|.	5.32|5.32	3.38|3.38	0.38709|0.38709	.|.	0.419877|.	0.19869|.	N|.	0.104244|.	T|T	0.22126|0.22126	0.0533|0.0533	N|N	0.14661|0.14661	0.345|0.345	0.22610|0.22610	N|N	0.998934|0.998934	P|.	0.43352|.	0.804|.	B|.	0.36134|.	0.218|.	T|T	0.22487|0.22487	-1.0215|-1.0215	10|5	0.17369|.	T|.	0.5|.	.|.	8.2938|8.2938	0.31973|0.31973	0.3085:0.0:0.6915:0.0|0.3085:0.0:0.6915:0.0	.|.	508|.	Q9BV73|.	CP250_HUMAN|.	D|M	508;508;507|2	ENSP00000380661:E508D;ENSP00000341541:E508D;ENSP00000413827:E507D|.	ENSP00000341541:E508D|.	E|R	+|+	3|2	2|0	CEP250|CEP250	33525244|33525244	0.945000|0.945000	0.32115|0.32115	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	-0.080000|-0.080000	0.11339|0.11339	0.628000|0.628000	0.30357|0.30357	0.655000|0.655000	0.94253|0.94253	GAG|AGG	CEP250	-	NULL	ENSG00000126001		0.612	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	44	0	G	NM_007186		34061830	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.995	T	T	34061830	G	T	34061830	3	4	11	1	0	0	0	0	1	0	0	0	3259	991	35	3	1566	3	CEP250	20	34061830	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2460164	34061830	28963690	221	3089											
C20orf117	140710	genome.wustl.edu	37	chr20	35422823	35422823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccaggtggttgcagTccctcgacgagagcccaggc	7	5	15	14	2	0	1	0	0	0	1	2	3	1	1	3	4	2	3	3	4	0	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:35422823T>C	ENST00000357779.3	-	14	3274	c.2948A>G	c.(2947-2949)gAc>gGc	p.D983G	SOGA1_ENST00000279034.6_Missense_Mutation_p.D983G|SOGA1_ENST00000237536.4_Missense_Mutation_p.D1221G|SOGA1_ENST00000456801.2_Missense_Mutation_p.D824G			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	983					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTGGTTGCAGTCCCTCGACGA	0.617																																																	0													27	29	28					20																	35422823		1958	4146	6104	SO:0001583	missense	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2948A>G	20.37:g.35422823T>C	ENSP00000350424:p.Asp983Gly		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_SOGA	p.D1221G	ENST00000357779.3	37	c.3662		20	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657466	0.67586	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.22539	2.08;1.95;2.11;2.1	5.14	5.14	0.70334	.	0.321572	0.35291	N	0.003318	T	0.28632	0.0709	L	0.44542	1.39	0.42635	D	0.99339	D	0.56521	0.976	P	0.53266	0.722	T	0.01666	-1.1300	10	0.27082	T	0.32	-35.5359	14.0913	0.64993	0.0:0.0:0.0:1.0	.	983	O94964-4	.	G	1221;983;824;983	ENSP00000237536:D1221G;ENSP00000279034:D983G;ENSP00000413886:D824G;ENSP00000350424:D983G	ENSP00000237536:D1221G	D	-	2	0	KIAA0889	34856237	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	5.425000	0.66470	2.164000	0.68074	0.533000	0.62120	GAC	SOGA1	-	NULL	ENSG00000149639		0.617	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		-	0	46	0	T	NM_199181		35422823	-1	tier1	-	no_errors	ENST00000237536	ensembl	human	known	74_37	missense	42.17	47	35	SNP	1.000	C	C	35422823	T	C	35422823	3	2	11	1	0	0	0	0	1	0	0	0	2090	1667	58	4	1393	4	C20orf117	20	35422823	Missense_Mutation	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09	1360993	35422823	27602697	222	3090											
RBL1	5933	genome.wustl.edu	37	chr20	35724277	35724277	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacagggcctgtagcgcctCcccggctgcggcgaccaccg	5	4	14	18	5	0	0	0	0	0	0	1	1	1	0	6	3	2	3	6	3	1	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:35724277C>A	ENST00000373664.3	-	1	121	c.55G>T	c.(55-57)Gag>Tag	p.E19*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.E19*|RBL1_ENST00000598590.1_Missense_Mutation_p.S30Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	19					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TGTAGCGCCTCCCCGGCTGCG	0.697																																																	0													21	19	20					20																	35724277		2202	4298	6500	SO:0001587	stop_gained	0			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.55G>T	20.37:g.35724277C>A	ENSP00000362768:p.Glu19*		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Nonsense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like	p.E19*	ENST00000373664.3	37	c.55	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.148865	0.97324	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	.	.	.	4.72	2.67	0.31697	.	0.529318	0.21362	N	0.075797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-13.3682	9.1374	0.36883	0.0:0.7693:0.1472:0.0836	.	.	.	.	X	19	.	ENSP00000343646:E19X	E	-	1	0	RBL1	35157691	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.974000	0.40559	1.198000	0.43158	0.462000	0.41574	GAG	RBL1	-	NULL	ENSG00000080839		0.697	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	-	0	49	0	C	NM_002895		35724277	-1	tier1	-	no_errors	ENST00000373664	ensembl	human	known	74_37	nonsense	47.06	27	24	SNP	0.997	A	A	35724277	C	A	35724277	4	1	11	1	0	0	0	0	0	1	0	0	13154	864	30	3	3248	3	RBL1	20	35724277	Nonsense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	301454	35724277	27301243	223	3091											
NFATC2	4773	genome.wustl.edu	37	chr20	50140171	50140171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggatgttttgaaactgCggacacaggtcgtcgggccc	8	8	15	10	3	0	1	0	1	0	0	2	3	0	3	1	4	2	2	1	4	1	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:50140171C>T	ENST00000396009.3	-	2	828	c.609G>A	c.(607-609)ccG>ccA	p.P203P	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Silent_p.P183P|NFATC2_ENST00000414705.1_Silent_p.P183P|NFATC2_ENST00000371564.3_Silent_p.P203P|NFATC2_ENST00000610033.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	203	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTGAAACTGCGGACACAGGT	0.612																																																	0													47	55	52					20																	50140171		2203	4300	6503	SO:0001819	synonymous_variant	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.609G>A	20.37:g.50140171C>T			B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.P203	ENST00000396009.3	37	c.609	CCDS13437.1	20																																																																																			NFATC2	-	NULL	ENSG00000101096		0.612	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0	92	0	C	NM_012340		50140171	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	silent	48.39	62	60	SNP	0.148	T	T	50140171	C	T	50140171	2	4	11	1	0	0	0	0	0	0	0	1	10401	755	27	1		1	NFATC2	20	50140171	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	14415894	50140171	12885349	224	3092											
ZNF217	7764	genome.wustl.edu	37	chr20	52198102	52198102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaggggcggcgaggtcagGagaacacgtccccggctgcc	8	3	17	13	4	1	2	1	0	0	2	2	4	2	2	3	6	2	1	3	6	1	0			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:52198102G>A	ENST00000371471.2	-	2	1689	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	ZNF217_ENST00000302342.3_Missense_Mutation_p.P422S|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	422					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCGAGGTCAGGAGAACACGTC	0.632																																																	0													50	51	51					20																	52198102		2203	4300	6503	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1264C>T	20.37:g.52198102G>A	ENSP00000360526:p.Pro422Ser		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P422S	ENST00000371471.2	37	c.1264	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403428	0.25291	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.11821	2.74;2.74	5.7	4.73	0.59995	.	0.197312	0.42420	D	0.000712	T	0.22085	0.0532	L	0.46157	1.445	0.23602	N	0.997311	D	0.58620	0.983	P	0.53490	0.727	T	0.04294	-1.0962	10	0.41790	T	0.15	-21.8439	13.1484	0.59477	0.0:0.0:0.8397:0.1603	.	422	O75362	ZN217_HUMAN	S	422	ENSP00000360526:P422S;ENSP00000304308:P422S	ENSP00000304308:P422S	P	-	1	0	ZNF217	51631509	0.911000	0.30947	0.452000	0.26994	0.087000	0.18053	1.790000	0.38734	1.366000	0.46076	0.591000	0.81541	CCT	ZNF217	-	NULL	ENSG00000171940		0.632	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2		0	20	0	G	NM_006526		52198102	-1			no_errors	ENST00000302342	ensembl	human	known	74_37	missense	14.29	28	5	SNP	0.579	A	A	52198102	G	A	52198102	3	1	11	1	0	0	0	0	1	0	0	0	17820	1174	41	3	1898	3	ZNF217	20	52198102	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	2057931	52198102	10827418	225	3093											
C20orf135	140701	genome.wustl.edu	37	chr20	62493771	62493771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaaggggctggtggtgcGcaccgtgcgcgagcacttca	6	8	17	10	4	1	0	1	0	0	0	1	2	1	1	1	5	3	3	1	5	1	2	rs144773464	byFrequency	TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr20:62493771G>A	ENST00000369916.3	+	1	1206	c.878G>A	c.(877-879)cGc>cAc	p.R293H	TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000346249.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|TPD52L2_ENST00000348257.5_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	293							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						CTGGTGGTGCGCACCGTGCGC	0.672													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		17593	0		0	False		,,,				2504	0																0								G	HIS/ARG	1,4375		0,1,2187	22	16	18		878	4.8	1	20	dbSNP_134	18	0,8584		0,0,4292	no	missense	ABHD16B	NM_080622.3	29	0,1,6479	AA,AG,GG		0.0,0.0229,0.0077	benign	293/470	62493771	1,12959	2188	4292	6480	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.878G>A	20.37:g.62493771G>A	ENSP00000358932:p.Arg293His			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.R293H	ENST00000369916.3	37	c.878	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563579	0.45694	2.29E-4	0.0	ENSG00000183260	ENST00000369916	T	0.38560	1.13	4.85	4.85	0.62838	.	0.146689	0.40469	N	0.001087	T	0.41488	0.1161	L	0.40543	1.245	0.36060	D	0.841376	P	0.42357	0.777	P	0.45794	0.493	T	0.48055	-0.9068	10	0.28530	T	0.3	-9.1203	15.4277	0.75065	0.0:0.0:1.0:0.0	.	293	Q9H3Z7	ABHGB_HUMAN	H	293	ENSP00000358932:R293H	ENSP00000358932:R293H	R	+	2	0	ABHD16B	61964215	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.385000	0.59613	2.235000	0.73313	0.491000	0.48974	CGC	ABHD16B	-	pfam_AB_hydrolase_1	ENSG00000183260		0.672	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	-	0	60	0	G			62493771	1	tier1	rs144773464	no_errors	ENST00000369916	ensembl	human	known	74_37	missense	6.52	86	6	SNP	1.000	A	A	62493771	G	A	62493771	3	1	11	1	0	0	0	0	1	0	0	0	2095	1087	38	1	880	1	C20orf135	20	62493771	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	10295669	62493771	531749	226	3094											
C21orf29	54084	genome.wustl.edu	37	chr21	45950995	45950995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcactgacagggtggcTgggaagggcacatcggccat	8	8	14	11	1	1	1	1	1	0	0	2	2	1	2	2	5	0	2	2	5	1	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr21:45950995T>C	ENST00000323084.4	-	4	629	c.564A>G	c.(562-564)ccA>ccG	p.P188P	TSPEAR_ENST00000397916.1_Silent_p.P120P	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	188	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACAGGGTGGCTGGGAAGGGCA	0.552																																																	0													80	70	73					21																	45950995		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.564A>G	21.37:g.45950995T>C				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.P188	ENST00000323084.4	37	c.564	CCDS13712.1	21																																																																																			TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000175894		0.552	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1		0	56	0	T	NM_144991		45950995	-1			no_errors	ENST00000323084	ensembl	human	known	74_37	silent	5.36	52	3	SNP	0.000	C	C	45950995	T	C	45950995	2	2	11	1	0	0	0	0	0	0	0	1	2131	1567	55	4		4	C21orf29	21	45950995	Silent	SNP	T	TCGA-2H-A9GQ-01A-11D-A37C-09		45950995	2178900	227	3095											
POTEH	23784	genome.wustl.edu	37	chr22	16266948	16266948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtgatactgttcattctCagtgtcaggaaattgctggc	8	14	10	9	0	3	1	3	1	1	0	4	2	3	2	1	2	2	2	1	2	2	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr22:16266948C>T	ENST00000343518.6	-	9	1552	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	501										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGTTCATTCTCAGTGTCAGGA	0.393																																																	0													2	1	1					22																	16266948		138	398	536	SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1501G>A	22.37:g.16266948C>T	ENSP00000340610:p.Glu501Lys		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E501K	ENST00000343518.6	37	c.1501	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	C	4.902	0.167597	0.09339	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.30448	1.53	1.4	0.244	0.15507	.	.	.	.	.	T	0.36248	0.0960	L	0.32530	0.975	0.09310	N	1	D;B	0.76494	0.999;0.06	D;B	0.79784	0.993;0.017	T	0.18241	-1.0343	9	0.33940	T	0.23	.	5.3532	0.16047	0.0:0.6354:0.3646:0.0	.	501;464	Q6S545;A6NKF6	POTEH_HUMAN;.	K	464;501	ENSP00000340610:E501K	ENSP00000340610:E501K	E	-	1	0	POTEH	14646948	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	0.553000	0.23391	0.126000	0.18424	0.184000	0.17185	GAG	POTEH	-	NULL	ENSG00000198062		0.393	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0	415	0	C	NM_001136213		16266948	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	15.76	325	61	SNP	0.003	T	T	16266948	C	T	16266948	3	4	11	1	0	0	0	0	1	0	0	0	12306	835	29	3	144	3	POTEH	22	16266948	Missense_Mutation	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		16266948	35037618	228	3096											
MTMR3	8897	genome.wustl.edu	37	chr22	30374971	30374971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacagagtttgtgggccGtgccgaggatgccatcattg	8	9	15	9	2	1	1	1	0	0	1	1	4	1	2	3	2	3	2	3	2	0	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr22:30374971G>C	ENST00000401950.2	+	5	482	c.140G>C	c.(139-141)cGt>cCt	p.R47P	MTMR3_ENST00000333027.3_Missense_Mutation_p.R47P|MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.R47P|MTMR3_ENST00000351488.3_Missense_Mutation_p.R47P|MTMR3_ENST00000323630.5_5'UTR	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	47					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TTTGTGGGCCGTGCCGAGGAT	0.423																																																	0													124	112	116					22																	30374971		2203	4300	6503	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.140G>C	22.37:g.30374971G>C	ENSP00000384651:p.Arg47Pro		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R47P	ENST00000401950.2	37	c.140	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039935	0.93630	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000445401;ENST00000351488;ENST00000406629	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.92	5.92	0.95590	.	0.057238	0.64402	D	0.000001	T	0.67126	0.2860	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.70935	0.971;0.905;0.971	T	0.66858	-0.5817	10	0.52906	T	0.07	.	19.2962	0.94122	0.0:0.0:1.0:0.0	.	47;47;47	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	P	47	ENSP00000384651:R47P;ENSP00000331649:R47P;ENSP00000409063:R47P;ENSP00000307271:R47P;ENSP00000384077:R47P	ENSP00000331649:R47P	R	+	2	0	MTMR3	28704971	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.464000	0.80887	2.795000	0.96236	0.655000	0.94253	CGT	MTMR3	-	NULL	ENSG00000100330		0.423	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0	73	0	G	NM_021090		30374971	1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	missense	11.28	118	15	SNP	1.000	C	C	30374971	G	C	30374971	3	2	11	1	0	0	0	0	1	0	0	0	9983	1145	40	5	150	5	MTMR3	22	30374971	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	14108023	30374971	20929595	229	3097											
SUN2	25777	genome.wustl.edu	37	chr22	39134611	39134611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagatggcgaagtccttgGgggcactggagatagtgctg	10	8	16	7	1	0	2	0	0	0	2	1	4	1	2	1	4	1	2	1	4	3	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chr22:39134611G>T	ENST00000405510.1	-	17	2286	c.1928C>A	c.(1927-1929)cCc>cAc	p.P643H	RP3-508I15.20_ENST00000609428.1_RNA|RP3-508I15.18_ENST00000420118.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.P664H|SUN2_ENST00000411587.2_Missense_Mutation_p.P632H|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000406622.1_Missense_Mutation_p.P643H|SUN2_ENST00000216064.4_Missense_Mutation_p.P643H	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	643	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GAAGTCCTTGGGGGCACTGGA	0.612																																																	0													85	83	84					22																	39134611		2202	4300	6502	SO:0001583	missense	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.1928C>A	22.37:g.39134611G>T	ENSP00000385740:p.Pro643His		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.P643H	ENST00000405510.1	37	c.1928	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600879	0.87055	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587;ENST00000455125	T;T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53;0.53	5.25	5.25	0.73442	Sad1/UNC-like, C-terminal (2);	0.063063	0.64402	N	0.000005	D	0.83552	0.5279	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.90031	0.4135	10	0.87932	D	0	-41.7365	18.4819	0.90815	0.0:0.0:1.0:0.0	.	632;678;643;664;643	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	H	643;643;664;643;632;116	ENSP00000385740:P643H;ENSP00000216064:P643H;ENSP00000385616:P664H;ENSP00000383992:P643H;ENSP00000395601:P632H;ENSP00000390154:P116H	ENSP00000216064:P643H	P	-	2	0	SUN2	37464557	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.840000	0.99478	2.460000	0.83146	0.650000	0.86243	CCC	SUN2	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000100242		0.612	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	-	0	70	0	G	XM_039332		39134611	-1	tier1	-	no_errors	ENST00000216064	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	39134611	G	T	39134611	3	4	11	1	0	0	0	0	1	0	0	0	15439	1232	43	3	237	3	SUN2	22	39134611	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	8759640	39134611	12169955	230	3098											
ACOT9	23597	genome.wustl.edu	37	chrX	23722811	23722811	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaataatcactacttacCtccatatgtttttgggaaaa	15	13	5	8	0	1	0	1	0	0	0	2	1	2	1	2	1	3	2	2	1	8	6			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:23722811C>T	ENST00000336430.7	-	14	1362	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	ACOT9_ENST00000379295.1_Splice_Site_p.E351K|ACOT9_ENST00000379303.5_Splice_Site_p.E420K	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	411					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CACTACTTACCTCCATATGTT	0.423																																																	0													147	142	143					X																	23722811		2203	4300	6503	SO:0001630	splice_region_variant	0			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"Acyl CoA thioesterases"	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.1231+1G>A	X.37:g.23722811C>T			B3KNC9|B7ZM94	Missense_Mutation	SNP	pfam_Thioestr_supf	p.E420K	ENST00000336430.7	37	c.1258	CCDS35216.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432021	0.83776	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295	T;T;T	0.39787	1.06;1.06;1.06	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.88377	2.95	0.80722	D	1	B;B;P	0.38729	0.415;0.292;0.644	B;B;P	0.44561	0.377;0.215;0.453	T	0.65038	-0.6265	9	.	.	.	-21.3791	18.6552	0.91450	0.0:1.0:0.0:0.0	.	378;411;420	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	K	420;411;351	ENSP00000368605:E420K;ENSP00000336580:E411K;ENSP00000368597:E351K	.	E	-	1	0	ACOT9	23632732	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	7.689000	0.84165	2.436000	0.82500	0.506000	0.49869	GAG	ACOT9	-	NULL	ENSG00000123130		0.423	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT9	HGNC	protein_coding	OTTHUMT00000056065.1	-	0	49	0	C	NM_012332	Missense_Mutation	23722811	-1	tier1	-	no_errors	ENST00000379303	ensembl	human	known	74_37	missense	95.83	1	23	SNP	1.000	T	T	23722811	C	T	23722811	5	4	11	1	0	0	0	0	0	0	1	0	157	695	24	3	96	3	ACOT9	23	23722811	Splice_Site	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09		23722811	131547749	231	3099											
NR0B1	190	genome.wustl.edu	37	chrX	30327395	30327395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagccgcgtctctggaGcctcaggagccgcgcgcgtt	5	6	13	17	6	2	0	1	0	1	0	3	2	2	2	5	2	3	1	5	2	0	1			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:30327395G>A	ENST00000378970.4	-	1	320	c.86C>T	c.(85-87)gCt>gTt	p.A29V	NR0B1_ENST00000453287.1_Missense_Mutation_p.A29V|NR0B1_ENST00000378963.1_5'Flank	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	29	4 X 67 AA tandem repeats.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGTCTCTGGAGCCTCAGGAGC	0.701																																																	0													10	10	10					X																	30327395		2049	4022	6071	SO:0001583	missense	0			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"Nuclear hormone receptors"	7960	protein-coding gene	gene with protein product		300473	"dosage-sensitive sex reversal"	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.86C>T	X.37:g.30327395G>A	ENSP00000368253:p.Ala29Val		Q96F69	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.A29V	ENST00000378970.4	37	c.86	CCDS14223.1	X	.	.	.	.	.	.	.	.	.	.	G	7.053	0.564780	0.13498	.	.	ENSG00000169297	ENST00000378970;ENST00000453287	D;D	0.97553	-3.55;-4.43	4.42	1.33	0.21861	.	0.494112	0.17192	N	0.183465	D	0.94463	0.8218	M	0.64404	1.975	0.09310	N	1	B	0.31989	0.35	B	0.34652	0.187	D	0.89734	0.3928	10	0.72032	D	0.01	-9.0085	4.0273	0.09693	0.1207:0.0:0.4502:0.4291	.	29	P51843	NR0B1_HUMAN	V	29	ENSP00000368253:A29V;ENSP00000396403:A29V	ENSP00000368253:A29V	A	-	2	0	NR0B1	30237316	0.043000	0.20138	0.178000	0.23040	0.017000	0.09413	0.219000	0.17641	0.391000	0.25143	0.513000	0.50165	GCT	NR0B1	-	NULL	ENSG00000169297		0.701	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	-	0	11	0	G	NM_000475		30327395	-1	tier1	-	no_errors	ENST00000378970	ensembl	human	known	74_37	missense	81.82	2	9	SNP	0.004	A	A	30327395	G	A	30327395	3	1	11	1	0	0	0	0	1	0	0	0	10652	971	34	3	1334	3	NR0B1	23	30327395	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	6604584	30327395	124943165	232	3100											
MAGEH1	28986	genome.wustl.edu	37	chrX	55479335	55479335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcgagcaaactgaaagtCatgcattttgtggcaagggt	13	10	12	6	1	1	1	1	1	0	0	2	3	1	1	0	2	3	3	0	2	4	2			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:55479335C>T	ENST00000342972.1	+	1	798	c.528C>T	c.(526-528)gtC>gtT	p.V176V	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	176	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AACTGAAAGTCATGCATTTTG	0.512																																																	0													108	101	103					X																	55479335		2203	4300	6503	SO:0001819	synonymous_variant	0			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.528C>T	X.37:g.55479335C>T			B2R8V9|Q5JRJ3|Q9Y5M2	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.V176	ENST00000342972.1	37	c.528	CCDS14369.1	X																																																																																			MAGEH1	-	pfam_MAGE,pfscan_MAGE	ENSG00000187601		0.512	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEH1	HGNC	protein_coding	OTTHUMT00000056868.1	-	0	25	0	C	NM_014061		55479335	1	tier1	-	no_errors	ENST00000342972	ensembl	human	known	74_37	silent	41.86	25	18	SNP	0.988	T	T	55479335	C	T	55479335	2	4	11	1	0	0	0	0	0	0	0	1	9226	813	29	3		3	MAGEH1	23	55479335	Silent	SNP	C	TCGA-2H-A9GQ-01A-11D-A37C-09	25151940	55479335	99791225	233	3101											
FAM70A	55026	genome.wustl.edu	37	chrX	119402112	119402112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatacctgaaagtcataaGcagaatatggtggcaggtga	16	8	11	6	0	1	3	1	2	0	1	1	3	1	3	1	3	3	2	1	3	6	3			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:119402112G>T	ENST00000309720.5	-	9	1001	c.878C>A	c.(877-879)gCt>gAt	p.A293D	TMEM255A_ENST00000371352.1_Missense_Mutation_p.A129D|TMEM255A_ENST00000440464.1_Missense_Mutation_p.A185D|TMEM255A_ENST00000371369.4_Missense_Mutation_p.A269D	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	293	Pro-rich.					integral component of membrane (GO:0016021)											AAAGTCATAAGCAGAATATGG	0.418																																																	0													190	168	175					X																	119402112		2203	4300	6503	SO:0001583	missense	0			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.878C>A	X.37:g.119402112G>T	ENSP00000310110:p.Ala293Asp		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	NULL	p.A293D	ENST00000309720.5	37	c.878	CCDS14597.1	X	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582548	0.86748	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352;ENST00000440464	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.6	5.6	0.85130	.	0.049634	0.85682	D	0.000000	T	0.64549	0.2608	L	0.57536	1.79	0.33575	D	0.599095	B;P;D	0.67145	0.013;0.739;0.996	B;P;D	0.63703	0.022;0.531;0.917	T	0.74734	-0.3565	10	0.66056	D	0.02	-14.0703	17.4634	0.87626	0.0:0.0:1.0:0.0	.	185;269;293	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	D	293;269;129;185	ENSP00000310110:A293D;ENSP00000360420:A269D;ENSP00000360403:A129D;ENSP00000405781:A185D	ENSP00000310110:A293D	A	-	2	0	FAM70A	119286140	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.329000	0.96413	2.338000	0.79540	0.594000	0.82650	GCT	TMEM255A	-	NULL	ENSG00000125355		0.418	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM255A	HGNC	protein_coding	OTTHUMT00000058091.1	-	0	43	0	G	NM_017938		119402112	-1	tier1	-	no_errors	ENST00000309720	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	119402112	G	T	119402112	3	4	11	1	0	0	0	0	1	0	0	0	5627	971	34	3	179	3	FAM70A	23	119402112	Missense_Mutation	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	63922777	119402112	35868448	234	3102											
ATP2B3	492	genome.wustl.edu	37	chrX	152835148	152835148	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcagccagcttcatgacGtaaccaatctttctacccct	9	12	4	16	1	4	1	2	1	2	0	5	1	5	1	5	0	4	2	5	0	3	4			TCGA-2H-A9GQ-01A-11D-A37C-09	TCGA-2H-A9GQ-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25eb1b50-dc9d-4d60-97be-336a33721453	38eb5d2e-28e0-4cb8-94bd-897c952276a4	g.chrX:152835148G>A	ENST00000349466.2	+	20	3668				ATP2B3_ENST00000370186.1_Missense_Mutation_p.V1130I|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V1144I|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V1130I|ATP2B3_ENST00000263519.4_Intron|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V1130I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3						blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.V1144I(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCATGACGTAACCAATCT	0.522																																																	1	Substitution - Missense(1)	endometrium(1)											304	245	265					X																	152835148		2203	4300	6503	SO:0001627	intron_variant	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3342+4587G>A	X.37:g.152835148G>A			B7WNR8|B7WNY5|Q12995|Q16858	Splice_Site	SNP	-	NULL	ENST00000349466.2	37	c.NULL	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083176	0.76642	.	.	ENSG00000067842	ENST00000370186;ENST00000393842;ENST00000359149;ENST00000370181	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.2	5.2	0.72013	.	.	.	.	.	D	0.83394	0.5245	.	.	.	0.37353	D	0.910872	D;B	0.69078	0.997;0.003	P;B	0.58210	0.835;0.002	D	0.83999	0.0342	8	0.27785	T	0.31	.	16.635	0.85050	0.0:0.0:1.0:0.0	.	1130;1144	Q16720-3;Q16720-2	.;.	I	1130;1130;1144;1130	ENSP00000359205:V1130I;ENSP00000377425:V1130I;ENSP00000352062:V1144I;ENSP00000359200:V1130I	ENSP00000352062:V1144I	V	+	1	0	ATP2B3	152488342	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.787000	0.85759	2.187000	0.69744	0.460000	0.39030	GTA	ATP2B3	-	-	ENSG00000067842		0.522	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	-	0	34	0	G	NM_021949		152835148	1	tier1	-	no_errors	ENST00000496610	ensembl	human	known	74_37	splice_site	87.88	4	29	SNP	1.000	A	A	152835148	G	A	152835148	1	1	11	0	1	0	0	0	0	0	0	0	1142	1145	40	1		1	ATP2B3	23	152835148	Intron	SNP	G	TCGA-2H-A9GQ-01A-11D-A37C-09	33433036	152835148	2435412	235	3103											
DFFB	1677	genome.wustl.edu	37	chr1	3784594	3784594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatacagctgtgagagcCggatccggagttacctgagg	10	8	15	8	2	0	3	0	3	0	2	1	7	1	5	3	3	4	2	3	3	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:3784594C>T	ENST00000378209.3	+	4	810	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	DFFB_ENST00000338895.3_Missense_Mutation_p.R163W	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	163					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTGTGAGAGCCGGATCCGGAG	0.582																																																	0													165	178	173					1																	3784594		2203	4300	6503	SO:0001583	missense	0				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.487C>T	1.37:g.3784594C>T	ENSP00000367454:p.Arg163Trp		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.R163W	ENST00000378209.3	37	c.487	CCDS52.1	1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.168206	0.78339	.	.	ENSG00000169598	ENST00000378209;ENST00000338895;ENST00000339350;ENST00000378206	T;T	0.57595	0.39;0.39	5.1	4.12	0.48240	Apoptosis, DNA fragmentation factor 40kDa (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	T	0.77027	-0.2740	10	0.87932	D	0	-41.6973	10.0579	0.42257	0.3235:0.6765:0.0:0.0	.	187;99;163	B4DZS0;Q5SR21;O76075	.;.;DFFB_HUMAN	W	163;163;99;99	ENSP00000367454:R163W;ENSP00000339524:R163W	ENSP00000339524:R163W	R	+	1	2	DFFB	3774454	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.641000	0.37197	2.355000	0.79922	0.550000	0.68814	CGG	DFFB	-	pfam_Apoptosis_DFF40	ENSG00000169598		0.582	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	HGNC	protein_coding	OTTHUMT00000009821.2	-	0	104	0	C	NM_001282669		3784594	1	tier1	-	no_errors	ENST00000378209	ensembl	human	known	74_37	missense	15.38	77	14	SNP	1.000	T	T	3784594	C	T	3784594	3	4	12	1	0	0	0	0	1	0	0	0	4467	643	23	1	501	1	DFFB	1	3784594	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		3784594	245466027	1	3104											
CAMTA1	23261	genome.wustl.edu	37	chr1	7811262	7811262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtttcccctgcagtacGcactttataaaaagatgaca	12	13	6	10	1	1	2	0	1	1	1	2	2	2	2	2	0	2	4	2	0	5	6	rs372219946		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:7811262G>A	ENST00000303635.7	+	20	4900	c.4693G>A	c.(4693-4695)Gca>Aca	p.A1565T	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1551T|CAMTA1_ENST00000476864.1_Missense_Mutation_p.A129T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1565	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCTGCAGTACGCACTTTATAA	0.488			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0								G	THR/ALA	0,4406		0,0,2203	192	206	201		4693	5.7	1	1		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMTA1	NM_015215.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1565/1674	7811262	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4693G>A	1.37:g.7811262G>A	ENSP00000306522:p.Ala1565Thr		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.A1565T	ENST00000303635.7	37	c.4693	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.579315	0.96565	0.0	1.16E-4	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	T;T;T	0.71817	-0.6;-0.6;-0.6	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.999	T	0.81236	-0.1024	10	0.48119	T	0.1	-9.2898	19.7272	0.96168	0.0:0.0:1.0:0.0	.	608;528;1565	B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;CMTA1_HUMAN	T	1565;1551;608;528;129	ENSP00000306522:A1565T;ENSP00000402561:A1551T;ENSP00000452319:A129T	ENSP00000306522:A1565T	A	+	1	0	CAMTA1	7733849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.646000	0.89796	0.655000	0.94253	GCA	CAMTA1	-	superfamily_P-loop_NTPase	ENSG00000171735		0.488	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0	43	0	G	NM_015215		7811262	1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	A	A	7811262	G	A	7811262	3	1	12	1	0	0	0	0	1	0	0	0	2620	1087	38	1	4771	1	CAMTA1	1	7811262	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4026668	7811262	241439359	2	3105											
CA6	765	genome.wustl.edu	37	chr1	9027846	9027846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgtccactggtttgtgctgGcagattttgtcaagctctcc	6	14	10	11	1	2	1	1	0	1	1	4	1	3	1	2	2	2	4	2	2	1	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:9027846G>A	ENST00000377443.2	+	6	704	c.700G>A	c.(700-702)Gca>Aca	p.A234T	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.A234T|CA6_ENST00000377442.2_Missense_Mutation_p.A174T	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	234					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.A234T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GTTTGTGCTGGCAGATTTTGT	0.527																																																	1	Substitution - Missense(1)	endometrium(1)											158	121	134					1																	9027846		2203	4300	6503	SO:0001583	missense	0			M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"Carbonic anhydrases"	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.700G>A	1.37:g.9027846G>A	ENSP00000366662:p.Ala234Thr		E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.A234T	ENST00000377443.2	37	c.700	CCDS30578.1	1	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050776	0.19827	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.67698	-0.28;-0.28;-0.28	5.01	0.879	0.19155	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.651311	0.14760	N	0.300067	T	0.44540	0.1298	N	0.21142	0.635	0.09310	N	1	P;P	0.50528	0.936;0.936	B;B	0.42771	0.301;0.397	T	0.31392	-0.9945	10	0.27082	T	0.32	.	1.7683	0.03007	0.1911:0.2045:0.4591:0.1452	.	174;234	E7EMQ1;P23280	.;CAH6_HUMAN	T	234;234;174	ENSP00000366662:A234T;ENSP00000366654:A234T;ENSP00000366661:A174T	ENSP00000366654:A234T	A	+	1	0	CA6	8950433	0.003000	0.15002	0.000000	0.03702	0.091000	0.18340	1.044000	0.30329	-0.034000	0.13713	0.561000	0.74099	GCA	CA6	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000131686		0.527	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CA6	HGNC	protein_coding	OTTHUMT00000004911.1		0	44	0	G			9027846	1			no_errors	ENST00000377443	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.000	A	A	9027846	G	A	9027846	3	1	12	1	0	0	0	0	1	0	0	0	2528	1203	42	3	722	3	CA6	1	9027846	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1216584	9027846	240222775	3	3106											
MTOR	2475	genome.wustl.edu	37	chr1	11177065	11177065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattaaattactcacctatCtcccaggcctaaaatatacc	16	11	2	12	0	2	0	1	0	1	0	3	0	2	0	4	1	2	0	4	1	9	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:11177065C>T	ENST00000361445.4	-	50	7088	c.7012G>A	c.(7012-7014)Gat>Aat	p.D2338N	MTOR_ENST00000376838.1_Missense_Mutation_p.D543N	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2338	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACTCACCTATCTCCCAGGCCT	0.373																																																	0													155	149	151					1																	11177065		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7012G>A	1.37:g.11177065C>T	ENSP00000354558:p.Asp2338Asn		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D2338N	ENST00000361445.4	37	c.7012	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.441055	0.96168	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.94897	-3.55;-3.55	5.69	5.69	0.88448	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.98848	0.9611	H	0.99842	4.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99208	1.0875	10	0.87932	D	0	.	18.7966	0.91997	0.0:1.0:0.0:0.0	.	2338	P42345	MTOR_HUMAN	N	2338;543	ENSP00000354558:D2338N;ENSP00000366034:D543N	ENSP00000354558:D2338N	D	-	1	0	MTOR	11099652	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.266000	0.78452	2.687000	0.91594	0.462000	0.41574	GAT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000198793		0.373	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	42	0	C	NM_004958		11177065	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	T	T	11177065	C	T	11177065	3	4	12	1	0	0	0	0	1	0	0	0	9992	913	32	3	673	3	MTOR	1	11177065	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2149219	11177065	238073556	4	3107											
PTCHD2	57540	genome.wustl.edu	37	chr1	11596444	11596444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgtgggcgtggccatcGtctccagtgccctcaccacg	5	7	13	16	4	2	0	1	0	1	0	4	0	2	0	4	3	1	1	4	3	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:11596444G>A	ENST00000294484.6	+	21	4018	c.3880G>A	c.(3880-3882)Gtc>Atc	p.V1294I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1294I|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R180H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1294					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGGCCATCGTCTCCAGTGC	0.657																																																	0													89	94	92					1																	11596444		2200	4279	6479	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3880G>A	1.37:g.11596444G>A	ENSP00000294484:p.Val1294Ile		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.V1294I	ENST00000294484.6	37	c.3880	CCDS41247.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.154759|4.154759	0.78114|0.78114	.|.	.|.	ENSG00000204624|ENSG00000204624	ENST00000304391|ENST00000294484;ENST00000389575	.|D;D	.|0.91407	.|-2.84;-2.84	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Membrane transport protein, MMPL type (1);	.|0.000000	.|0.64402	.|D	.|0.000005	D|D	0.87281|0.87281	0.6138|0.6138	N|N	0.13235|0.13235	0.315|0.315	0.54753|0.54753	D|D	0.999986|0.999986	.|D	.|0.54207	.|0.965	.|P	.|0.51974	.|0.686	D|D	0.86116|0.86116	0.1565|0.1565	6|10	0.87932|0.23891	D|T	0|0.37	-49.9588|-49.9588	17.0791|17.0791	0.86593|0.86593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1294	.|Q9P2K9	.|PTHD2_HUMAN	H|I	180|1294	.|ENSP00000294484:V1294I;ENSP00000374226:V1294I	ENSP00000303400:R180H|ENSP00000294484:V1294I	R|V	+|+	2|1	0|0	PTCHD2|PTCHD2	11519031|11519031	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.263000|6.263000	0.72521|0.72521	2.256000|2.256000	0.74724|0.74724	0.655000|0.655000	0.94253|0.94253	CGT|GTC	PTCHD2	-	pfam_Patched,pfam_MMPL_dom	ENSG00000204624		0.657	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	92	0	G	XM_052561		11596444	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	14.71	58	10	SNP	1.000	A	A	11596444	G	A	11596444	3	1	12	1	0	0	0	0	1	0	0	0	12775	1145	40	1	3958	1	PTCHD2	1	11596444	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	419379	11596444	237654177	5	3108											
PLOD1	5351	genome.wustl.edu	37	chr1	12009874	12009874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggagaaggggacgtcGgcaggtggagggcagaaggt	11	5	21	4	2	0	2	0	0	0	2	1	5	0	4	0	8	0	2	0	8	3	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:12009874G>A	ENST00000196061.4	+	3	240	c.213G>A	c.(211-213)tcG>tcA	p.S71S	PLOD1_ENST00000376369.3_Silent_p.S118S|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	71					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AGGGGACGTCGGCAGGTGGAG	0.557																																																	0													119	125	123					1																	12009874		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.213G>A	1.37:g.12009874G>A			B4DR87|Q96AV9|Q9H132	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.S118	ENST00000196061.4	37	c.354	CCDS142.1	1																																																																																			PLOD1	-	NULL	ENSG00000083444		0.557	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	-	0	50	0	G	NM_000302		12009874	1	tier1	-	no_errors	ENST00000376369	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.000	A	A	12009874	G	A	12009874	2	1	12	1	0	0	0	0	0	0	0	1	12140	1103	39	1		1	PLOD1	1	12009874	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	413430	12009874	237240747	6	3109											
ARID1A	8289	genome.wustl.edu	37	chr1	27100324	27100324	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaatcagttctccaccCaaggcaccccttctggcagc	9	8	8	16	0	3	0	1	0	2	0	4	0	3	0	4	3	1	4	4	3	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:27100324C>T	ENST00000324856.7	+	17	4407	c.4036C>T	c.(4036-4038)Caa>Taa	p.Q1346*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1346*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q963*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1346	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTTCTCCACCCAAGGCACCCC	0.547			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													184	186	185					1																	27100324		2203	4300	6503	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4036C>T	1.37:g.27100324C>T	ENSP00000320485:p.Gln1346*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1346*	ENST00000324856.7	37	c.4036	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.439036|9.439036	0.99171|0.99171	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.107643	.|0.64402	.|D	.|0.000003	T|.	0.75057|.	0.3798|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72374|.	-0.4313|.	4|.	.|0.37606	.|T	.|0.19	-4.4331|-4.4331	19.5138|19.5138	0.95154|0.95154	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	242|1346;1346;963	.|.	.|ENSP00000320485:Q1346X	P|Q	+|+	2|1	0|0	ARID1A|ARID1A	26972911|26972911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.308000|5.308000	0.65768|0.65768	2.625000|2.625000	0.88918|0.88918	0.650000|0.650000	0.86243|0.86243	CCA|CAA	ARID1A	-	NULL	ENSG00000117713		0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	91	0	C	NM_139135		27100324	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	20.00	52	13	SNP	1.000	T	T	27100324	C	T	27100324	4	4	12	1	0	0	0	0	0	1	0	0	913	595	21	3	4102	3	ARID1A	1	27100324	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	15090450	27100324	222150297	7	3110											
GMEB1	10691	genome.wustl.edu	37	chr1	29018137	29018137	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgaggatatggaaattgcTtaccccataacttgtgggga	13	11	11	6	0	0	1	0	1	0	0	0	4	0	4	2	4	3	1	2	4	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:29018137T>G	ENST00000294409.2	+	4	372	c.282T>G	c.(280-282)gcT>gcG	p.A94A	GMEB1_ENST00000361872.4_Silent_p.A84A|GMEB1_ENST00000373816.1_Silent_p.A84A|GMEB1_ENST00000480454.1_3'UTR|SCARNA24_ENST00000516968.1_RNA	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	94	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAATTGCTTACCCCATAA	0.383																																																	0													129	117	121					1																	29018137		2203	4300	6503	SO:0001819	synonymous_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.282T>G	1.37:g.29018137T>G			B1AT48|Q9NWH1|Q9UKD0	Silent	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.A94	ENST00000294409.2	37	c.282	CCDS327.1	1																																																																																			GMEB1	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000162419		0.383	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	-	0	69	0	T	NM_006582		29018137	1	tier1	-	no_errors	ENST00000294409	ensembl	human	known	74_37	silent	31.82	45	21	SNP	1.000	G	G	29018137	T	G	29018137	2	3	12	1	0	0	0	0	0	0	0	1	6513	1596	56	4		4	GMEB1	1	29018137	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1917813	29018137	220232484	8	3111											
CSMD2	114784	genome.wustl.edu	37	chr1	34042990	34042990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaccaggcggtagccggcGttgcagccaaagtggatgga	9	5	15	12	3	0	0	0	0	0	0	0	2	0	2	4	5	3	3	4	5	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:34042990G>A	ENST00000373381.4	-	49	7658	c.7482C>T	c.(7480-7482)aaC>aaT	p.N2494N		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2496	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTAGCCGGCGTTGCAGCCAA	0.647																																																	0													57	60	59					1																	34042990		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7482C>T	1.37:g.34042990G>A			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.N2494	ENST00000373381.4	37	c.7482		1																																																																																			CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.647	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	72	0	G	NM_052896		34042990	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	silent	9.59	66	7	SNP	0.003	A	A	34042990	G	A	34042990	2	1	12	1	0	0	0	0	0	0	0	1	3954	1136	40	1		1	CSMD2	1	34042990	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	5024853	34042990	215207631	9	3112											
KCNQ4	9132	genome.wustl.edu	37	chr1	41283924	41283924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctaccgaggatggcaggGtcgcttccgctttgccagaa	7	8	13	13	4	0	1	0	0	0	1	2	3	1	2	4	3	2	4	4	3	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:41283924G>A	ENST00000347132.5	+	3	576	c.494G>A	c.(493-495)gGt>gAt	p.G165D	KCNQ4_ENST00000509682.2_Missense_Mutation_p.G165D	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	165					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GGATGGCAGGGTCGCTTCCGC	0.627																																																	0													109	100	103					1																	41283924		2203	4300	6503	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.494G>A	1.37:g.41283924G>A	ENSP00000262916:p.Gly165Asp		O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.G165D	ENST00000347132.5	37	c.494	CCDS456.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.312096	0.95655	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.98937	-5.25;-5.18	4.76	4.76	0.60689	Ion transport (1);	0.117292	0.56097	D	0.000023	D	0.98576	0.9524	L	0.48877	1.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99655	1.0992	10	0.87932	D	0	-27.9514	15.3399	0.74287	0.0:0.0:1.0:0.0	.	165;165	P56696-2;P56696	.;KCNQ4_HUMAN	D	165	ENSP00000262916:G165D;ENSP00000423756:G165D	ENSP00000262916:G165D	G	+	2	0	KCNQ4	41056511	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.616000	0.98359	2.474000	0.83562	0.650000	0.86243	GGT	KCNQ4	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ	ENSG00000117013		0.627	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1	-	0	77	0	G	NM_004700		41283924	1	tier1	-	no_errors	ENST00000347132	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	A	A	41283924	G	A	41283924	3	1	12	1	0	0	0	0	1	0	0	0	8112	1261	44	3	504	3	KCNQ4	1	41283924	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	7240934	41283924	207966697	10	3113											
HECTD3	79654	genome.wustl.edu	37	chr1	45475895	45475895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcctttgtacagcttctgCgtatgcctctgccggctgag	5	13	11	12	2	2	1	0	1	2	0	2	1	2	1	3	1	6	4	3	1	3	5	rs113744661		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:45475895C>T	ENST00000372172.4	-	3	672	c.601G>A	c.(601-603)Gca>Aca	p.A201T	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	201					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A201T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ACAGCTTCTGCGTATGCCTCT	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		18511	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA	3,4185		0,3,2091	132	135	134		601	1.8	0.2	1	dbSNP_132	134	0,8442		0,0,4221	no	missense	HECTD3	NM_024602.5	58	0,3,6312	TT,TC,CC		0.0,0.0716,0.0238	benign	201/862	45475895	3,12627	2094	4221	6315	SO:0001583	missense	0			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"HECT domain containing 3"			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.601G>A	1.37:g.45475895C>T	ENSP00000361245:p.Ala201Thr		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.A201T	ENST00000372172.4	37	c.601	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454256	0.26161	7.16E-4	0.0	ENSG00000126107	ENST00000372172	T	0.58506	0.33	4.13	1.82	0.25136	Galactose-binding domain-like (1);	0.651897	0.14941	N	0.289528	T	0.28134	0.0694	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03898	-1.0994	10	0.19590	T	0.45	.	6.5283	0.22312	0.0:0.472:0.0:0.528	.	201	Q5T447	HECD3_HUMAN	T	201	ENSP00000361245:A201T	ENSP00000361245:A201T	A	-	1	0	HECTD3	45248482	0.906000	0.30813	0.200000	0.23457	0.885000	0.51271	0.579000	0.23788	0.275000	0.22094	-0.302000	0.09304	GCA	HECTD3	-	superfamily_Galactose-bd-like	ENSG00000126107		0.587	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1		0	26	0	C	NM_024602		45475895	-1			no_errors	ENST00000372172	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.965	T	T	45475895	C	T	45475895	3	4	12	1	0	0	0	0	1	0	0	0	7068	768	27	1	2060	1	HECTD3	1	45475895	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	4191971	45475895	203774726	11	3114											
ELAVL4	1996	genome.wustl.edu	37	chr1	50572048	50572048	+	5'Flank	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattgtcattaatgagtcaAgaaactgctcatttatggta	15	14	7	5	0	3	2	3	1	0	1	3	2	3	2	0	1	2	2	0	1	6	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:50572048A>C	ENST00000371823.4	+	0	0				ELAVL4_ENST00000357083.4_Silent_p.R15R|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000371824.1_5'Flank|ELAVL4_ENST00000448907.2_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4						mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TAATGAGTCAAGAAACTGCTC	0.453																																																	0													90	84	86					1																	50572048		1568	3582	5150	SO:0001631	upstream_gene_variant	0			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877		1.37:g.50572048A>C	Exception_encountered		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	p.R15	ENST00000371823.4	37	c.43	CCDS553.1	1																																																																																			ELAVL4	-	NULL	ENSG00000162374		0.453	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	-	0	45	0	A	NM_021952		50572048	1	tier1	-	no_errors	ENST00000357083	ensembl	human	known	74_37	silent	15.62	27	5	SNP	1.000	C	C	50572048	A	C	50572048	1	2	12	0	1	0	0	0	0	0	0	0	5068	64	3	4		4	ELAVL4	1	50572048	5'Flank	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	5096153	50572048	198678573	12	3115											
USP24	23358	genome.wustl.edu	37	chr1	55557744	55557744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaaaaggaattgaataGcaagctgtaagctcaccttt	15	12	8	6	0	1	2	1	2	0	0	1	3	1	3	1	1	3	4	1	1	7	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:55557744G>T	ENST00000294383.6	-	54	6505	c.6506C>A	c.(6505-6507)gCt>gAt	p.A2169D	USP24_ENST00000407756.1_Missense_Mutation_p.A2009D	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2169					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAATTGAATAGCAAGCTGTAA	0.363																																																	0													96	92	93					1																	55557744		1845	4087	5932	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6506C>A	1.37:g.55557744G>T	ENSP00000294383:p.Ala2169Asp		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.A2009D	ENST00000294383.6	37	c.6026	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.225076	0.95173	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.03772	3.81;3.83	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.00005	-1.2535	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	2009	B7WPF4	.	D	2169;2009	ENSP00000294383:A2169D;ENSP00000385700:A2009D	ENSP00000294383:A2169D	A	-	2	0	USP24	55330332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.857000	0.98124	0.650000	0.86243	GCT	USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.363	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	109	0	G			55557744	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	55557744	G	T	55557744	3	4	12	1	0	0	0	0	1	0	0	0	17104	971	34	3	1416	3	USP24	1	55557744	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4985696	55557744	193692877	13	3116											
IL12RB2	3595	genome.wustl.edu	37	chr1	67793957	67793957	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactatttggactttggaaTcaacctcacccctgaatcac	11	12	6	12	0	3	2	3	2	0	0	3	4	3	4	3	2	1	0	3	2	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:67793957T>A	ENST00000262345.1	+	5	1194	c.554T>A	c.(553-555)aTc>aAc	p.I185N	IL12RB2_ENST00000544434.1_Missense_Mutation_p.I185N|IL12RB2_ENST00000541374.1_Missense_Mutation_p.I185N|IL12RB2_ENST00000371000.1_Missense_Mutation_p.I185N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	185	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		I -> V (in dbSNP:rs2307146).		cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GACTTTGGAATCAACCTCACC	0.408																																																	0													217	203	208					1																	67793957		2203	4300	6503	SO:0001583	missense	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.554T>A	1.37:g.67793957T>A	ENSP00000262345:p.Ile185Asn		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I185N	ENST00000262345.1	37	c.554	CCDS638.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.18|16.18	3.051691|3.051691	0.55218|0.55218	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434|ENST00000441640	D;D;D;D|.	0.83163|.	-1.69;-1.69;-1.69;-1.69|.	5.35|5.35	4.22|4.22	0.49857|0.49857	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.434355|.	0.27096|.	N|.	0.020949|.	T|T	0.46014|0.46014	0.1371|0.1371	M|M	0.75264|0.75264	2.295|2.295	0.32965|0.32965	D|D	0.521533|0.521533	D;D;D;D|.	0.71674|.	0.98;0.998;0.985;0.997|.	P;P;P;D|.	0.69479|.	0.543;0.904;0.864;0.964|.	T|T	0.50171|0.50171	-0.8859|-0.8859	10|5	0.59425|.	D|.	0.04|.	-10.2024|-10.2024	7.7348|7.7348	0.28808|0.28808	0.0:0.0952:0.0:0.9048|0.0:0.0952:0.0:0.9048	.|.	185;185;185;185|.	B4DGA4;F5H7L6;Q99665-2;Q99665|.	.;.;.;I12R2_HUMAN|.	N|K	185|52	ENSP00000262345:I185N;ENSP00000360039:I185N;ENSP00000445276:I185N;ENSP00000442443:I185N|.	ENSP00000262345:I185N|.	I|N	+|+	2|3	0|2	IL12RB2|IL12RB2	67566545|67566545	0.882000|0.882000	0.30256|0.30256	0.611000|0.611000	0.29010|0.29010	0.822000|0.822000	0.46500|0.46500	1.073000|1.073000	0.30691|0.30691	0.874000|0.874000	0.35823|0.35823	0.459000|0.459000	0.35465|0.35465	ATC|AAT	IL12RB2	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000081985		0.408	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	-	0	67	0	T	NM_001559		67793957	1	tier1	-	no_errors	ENST00000262345	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.674	A	A	67793957	T	A	67793957	3	1	12	1	0	0	0	0	1	0	0	0	7654	1435	50	5	568	5	IL12RB2	1	67793957	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	12236213	67793957	181456664	14	3117											
LPHN2	23266	genome.wustl.edu	37	chr1	82416109	82416109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactccaaggggataaagTggcctcagacacaaagggga	15	5	13	8	0	1	2	1	0	0	2	2	4	2	4	2	5	0	0	2	5	5	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:82416109T>C	ENST00000370728.1	+	9	2080	c.1435T>C	c.(1435-1437)Tgg>Cgg	p.W479R	LPHN2_ENST00000319517.6_Missense_Mutation_p.W479R|LPHN2_ENST00000370717.2_Missense_Mutation_p.W479R|LPHN2_ENST00000370713.1_Missense_Mutation_p.W479R|LPHN2_ENST00000271029.4_Missense_Mutation_p.W479R|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.W479R|LPHN2_ENST00000370725.1_Missense_Mutation_p.W479R|LPHN2_ENST00000370730.1_Missense_Mutation_p.W479R|LPHN2_ENST00000370715.1_Missense_Mutation_p.W479R|LPHN2_ENST00000359929.3_Missense_Mutation_p.W479R|LPHN2_ENST00000370721.1_Missense_Mutation_p.W417R|LPHN2_ENST00000394879.1_Missense_Mutation_p.W479R|LPHN2_ENST00000335786.5_Missense_Mutation_p.W479R|LPHN2_ENST00000370727.1_Missense_Mutation_p.W479R			O95490	LPHN2_HUMAN	latrophilin 2	479					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GGGGATAAAGTGGCCTCAGAC	0.408																																																	0													92	93	92					1																	82416109		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1435T>C	1.37:g.82416109T>C	ENSP00000359763:p.Trp479Arg		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.W479R	ENST00000370728.1	37	c.1435		1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335874	0.60853	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2;-4.2	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.92833	3.35	0.80722	D	1	D;P;P	0.52996	0.957;0.588;0.839	P;B;P	0.53313	0.723;0.429;0.723	D	0.98459	1.0595	10	0.87932	D	0	.	16.3009	0.82811	0.0:0.0:0.0:1.0	.	479;479;479	O95490-3;O95490-4;O95490-2	.;.;.	R	417;479;479;479;479;479;479;479;479;479;479;479;479;479	ENSP00000359756:W417R;ENSP00000359763:W479R;ENSP00000359765:W479R;ENSP00000359762:W479R;ENSP00000359760:W479R;ENSP00000359758:W479R;ENSP00000353006:W479R;ENSP00000359750:W479R;ENSP00000359748:W479R;ENSP00000322270:W479R;ENSP00000359752:W479R;ENSP00000378344:W479R;ENSP00000271029:W479R;ENSP00000337306:W479R	ENSP00000271029:W479R	W	+	1	0	LPHN2	82188697	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.841000	0.86834	2.246000	0.74042	0.533000	0.62120	TGG	LPHN2	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000117114		0.408	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	68	0	T	NM_012302		82416109	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	C	C	82416109	T	C	82416109	3	2	12	1	0	0	0	0	1	0	0	0	8951	1696	59	4	1453	4	LPHN2	1	82416109	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	14622152	82416109	166834512	15	3118											
OLFM3	118427	genome.wustl.edu	37	chr1	102302454	102302454	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttttccagtagttggcgaAgttgcctgcttttggcatcc	5	15	10	11	1	0	0	0	0	0	0	2	1	2	0	4	2	2	5	4	2	2	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:102302454A>C	ENST00000338858.5	-	2	256	c.257T>G	c.(256-258)cTt>cGt	p.L86R	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.L66R|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.L86R			Q96PB7	NOE3_HUMAN	olfactomedin 3	86					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TAGTTGGCGAAGTTGCCTGCT	0.463																																																	0													129	120	123					1																	102302454		2203	4300	6503	SO:0001583	missense	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.257T>G	1.37:g.102302454A>C	ENSP00000345192:p.Leu86Arg		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.L86R	ENST00000338858.5	37	c.257		1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388361	0.82902	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000359814	T;T;T	0.62232	0.04;0.04;0.04	5.62	5.62	0.85841	.	0.061993	0.64402	D	0.000006	T	0.73458	0.3589	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.991;0.998	T	0.77351	-0.2620	10	0.66056	D	0.02	.	15.5066	0.75745	1.0:0.0:0.0:0.0	.	66;86	Q5T3V6;Q96PB7	.;NOE3_HUMAN	R	66;86;86	ENSP00000359121:L66R;ENSP00000345192:L86R;ENSP00000352867:L86R	ENSP00000345192:L86R	L	-	2	0	OLFM3	102075042	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.310000	0.96267	2.133000	0.65898	0.477000	0.44152	CTT	OLFM3	-	pfam_Noelin-1,superfamily_Quino_amine_DH_bsu	ENSG00000118733		0.463	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	-	0	64	0	A			102302454	-1	tier1	-	no_errors	ENST00000338858	ensembl	human	known	74_37	missense	11.86	52	7	SNP	1.000	C	C	102302454	A	C	102302454	3	2	12	1	0	0	0	0	1	0	0	0	10893	72	3	4	1199	4	OLFM3	1	102302454	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	19886345	102302454	146948167	16	3119											
AKNAD1	254268	genome.wustl.edu	37	chr1	109391542	109391542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtattactttagtctTcagttgatcagtctgttctt	10	19	6	6	0	5	1	2	1	3	0	5	1	5	1	0	0	1	3	0	0	5	9			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:109391542T>C	ENST00000370001.3	-	4	1442	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E	AKNAD1_ENST00000369995.3_Missense_Mutation_p.K392E|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K392E|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K99E	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	392						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ACTTTAGTCTTCAGTTGATCA	0.323																																																	0													78	85	83					1																	109391542		2203	4300	6503	SO:0001583	missense	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.1174A>G	1.37:g.109391542T>C	ENSP00000359018:p.Lys392Glu		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.K392E	ENST00000370001.3	37	c.1174	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	T	16.57	3.160537	0.57368	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.45	3.11	0.35812	.	0.508579	0.21435	N	0.074600	T	0.32436	0.0829	L	0.34521	1.04	0.27665	N	0.946943	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.11060	-1.0603	10	0.49607	T	0.09	-12.3967	7.101	0.25338	0.0:0.0723:0.2804:0.6473	.	99;392	B4DET8;Q5T1N1	.;AKND1_HUMAN	E	392;99;392;392	ENSP00000359018:K392E;ENSP00000349968:K99E;ENSP00000359011:K392E;ENSP00000359012:K392E	ENSP00000349968:K99E	K	-	1	0	AKNAD1	109193065	0.998000	0.40836	1.000000	0.80357	0.763000	0.43281	1.716000	0.37981	0.446000	0.26666	-0.313000	0.08912	AAG	AKNAD1	-	pfam_TF_AT-hook	ENSG00000162641		0.323	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	-	0	85	0	T	NM_152763		109391542	-1	tier1	-	no_errors	ENST00000370001	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	C	C	109391542	T	C	109391542	3	2	12	1	0	0	0	0	1	0	0	0	464	1792	62	4	1388	4	AKNAD1	1	109391542	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	7089088	109391542	139859079	17	3120											
CLCC1	23155	genome.wustl.edu	37	chr1	109486176	109486176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaactgagtgtaccaaCgtacatatgtccacagctca	12	10	7	12	1	2	1	2	1	1	0	4	1	3	1	2	0	5	3	2	0	5	3	rs141116625		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:109486176C>T	ENST00000369971.2	-	6	752	c.623G>A	c.(622-624)cGt>cAt	p.R208H	CLCC1_ENST00000369976.1_Missense_Mutation_p.R208H|CLCC1_ENST00000369968.2_Intron|CLCC1_ENST00000369969.2_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.R158H|CLCC1_ENST00000302500.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.R158H|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000356970.2_Missense_Mutation_p.R208H|CLCC1_ENST00000348264.2_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	208						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGTGTACCAACGTACATATGT	0.398																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	108	112	111		623,473	3.3	0.3	1	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLCC1	NM_001048210.1,NM_015127.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	208/552,158/502	109486176	1,13005	2203	4300	6503	SO:0001583	missense	0			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.623G>A	1.37:g.109486176C>T	ENSP00000358988:p.Arg208His		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.R208H	ENST00000369971.2	37	c.623	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590579	0.28357	0.0	1.16E-4	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369976;ENST00000369970	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.26	3.33	0.38152	.	0.490044	0.24433	N	0.038570	T	0.09069	0.0224	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.22211	0.031;0.066	B;B	0.14578	0.009;0.011	T	0.28554	-1.0040	10	0.12103	T	0.63	-9.989	3.0495	0.06165	0.1262:0.4806:0.2383:0.1549	.	158;208	Q96S66-2;Q96S66	.;CLCC1_HUMAN	H	208;208;158;208;158	ENSP00000349456:R208H;ENSP00000358988:R208H;ENSP00000411591:R158H;ENSP00000358993:R208H;ENSP00000358987:R158H	ENSP00000349456:R208H	R	-	2	0	CLCC1	109287699	0.000000	0.05858	0.282000	0.24776	0.922000	0.55478	0.639000	0.24690	0.663000	0.31027	0.591000	0.81541	CGT	CLCC1	-	pfam_Chloride_chnl_CLIC-like	ENSG00000121940		0.398	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	-	0	50	0	C	NM_015127		109486176	-1	tier1	rs141116625	no_errors	ENST00000356970	ensembl	human	known	74_37	missense	40.00	18	12	SNP	0.057	T	T	109486176	C	T	109486176	3	4	12	1	0	0	0	0	1	0	0	0	3467	536	19	1	1056	1	CLCC1	1	109486176	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	94634	109486176	139764445	18	3121											
FLG	2312	genome.wustl.edu	37	chr1	152280788	152280788	+	Missense_Mutation	SNP	T	T	G																															ttgttccttgtcatatgtttTtctgcttgcacttctggatc																								rs66954353	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:152280788T>G	ENST00000368799.1	-	3	6609	c.6574A>C	c.(6574-6576)Aaa>Caa	p.K2192Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2192	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATATGTTTTTCTGCTTGCA	0.532									Ichthyosis																																								0								G	GLN/LYS	1049,3357		0,1049,1154	476	402	427		6574	2	0	1	dbSNP_130	427	819,7781		4,811,3485	yes	missense	FLG	NM_002016.1	53	4,1860,4639	GG,GT,TT		9.5233,23.8084,14.3626	benign	2192/4062	152280788	1868,11138	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6574A>C	1.37:g.152280788T>G	ENSP00000357789:p.Lys2192Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.K2192Q	ENST00000368799.1	37	c.6574	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	5.601	0.295698	0.10622	0.238084	0.095233	ENSG00000143631	ENST00000368799	T	0.01725	4.67	2.99	1.99	0.26369	.	.	.	.	.	T	0.00144	0.0004	N	0.00146	-1.995	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.13548	-1.0505	8	0.15066	T	0.55	.	5.49	0.16771	0.0:0.2239:0.546:0.2301	.	2192	P20930	FILA_HUMAN	Q	2192	ENSP00000357789:K2192Q	ENSP00000357789:K2192Q	K	-	1	0	FLG	150547412	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.245000	0.18142	-0.043000	0.13513	-0.332000	0.08345	AAA	FLG	-	NULL	ENSG00000143631		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	170	0	T	NM_002016		152280788	-1	tier1	rs66954353	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	30.77	116	52	SNP	0.001	G	G	152280788	T	G	152280788	3	3	12	1	0	0	0	0	1	0	0	0	5944	1850	64	4	5615	4	FLG	1	152280788	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	42794612	152280788	96969833	19	3122	9	2									
FLG	2312	genome.wustl.edu	37	chr1	152280795	152280795	+	Silent	SNP	T	T	G																															ttgtcatatgtttttctgctTgcacttctggatcctgactg																								rs148841847		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:152280795T>G	ENST00000368799.1	-	3	6602	c.6567A>C	c.(6565-6567)gcA>gcC	p.A2189A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2189	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTTCTGCTTGCACTTCTGG	0.527									Ichthyosis																																								0								T		0,4406		0,0,2203	473	401	425		6567	-4.2	0	1	dbSNP_134	425	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,1,6502	GG,GT,TT		0.0116,0.0,0.0077		2189/4062	152280795	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6567A>C	1.37:g.152280795T>G			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A2189	ENST00000368799.1	37	c.6567	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.527	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	163	0	T	NM_002016		152280795	-1	tier1	rs148841847	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	32.37	117	56	SNP	0.000	G	G	152280795	T	G	152280795	2	3	12	1	0	0	0	0	0	0	0	1	5944	1799	63	4		4	FLG	1	152280795	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	7	152280795	96969826	20	3123	9	2									
IVL	3713	genome.wustl.edu	37	chr1	152883590	152883590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagaggagcaggagggacaActgaagcatctggagcagca	14	4	15	8	0	1	2	0	1	1	1	1	6	1	6	0	4	5	4	0	4	3	1	rs543706373		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:152883590A>C	ENST00000368764.3	+	2	1381	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	IVL_ENST00000392667.2_Missense_Mutation_p.Q293H			P07476	INVO_HUMAN	involucrin	439	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGAGGGACAACTGAAGCATC	0.637																																																	0													23	26	25					1																	152883590		2170	4256	6426	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1317A>C	1.37:g.152883590A>C	ENSP00000357753:p.Gln439His		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q439H	ENST00000368764.3	37	c.1317	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	a	11.35	1.614173	0.28712	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.12039	2.96;2.72	3.19	-6.39	0.01951	.	.	.	.	.	T	0.02342	0.0072	L	0.36672	1.1	0.09310	N	1	B	0.17268	0.021	B	0.16289	0.015	T	0.42565	-0.9444	9	0.44086	T	0.13	0.5998	3.7891	0.08713	0.1103:0.3135:0.432:0.1442	.	439	P07476	INVO_HUMAN	H	439;293	ENSP00000357753:Q439H;ENSP00000376435:Q293H	ENSP00000357753:Q439H	Q	+	3	2	IVL	151150214	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.355000	0.02612	-1.584000	0.01636	-1.229000	0.01577	CAA	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.637	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	128	0	A	NM_005547		152883590	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	25.47	120	41	SNP	0.000	C	C	152883590	A	C	152883590	3	2	12	1	0	0	0	0	1	0	0	0	7956	40	2	4	1319	4	IVL	1	152883590	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	602795	152883590	96367031	21	3124											
FCRL3	115352	genome.wustl.edu	37	chr1	157667003	157667003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctccacctcacaccagtaAgaccctgagtcttcagtcca	10	9	6	16	0	4	2	2	1	2	1	6	2	5	2	5	0	0	1	5	0	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:157667003A>G	ENST00000368184.3	-	6	1062	c.771T>C	c.(769-771)tcT>tcC	p.S257S	FCRL3_ENST00000368186.5_Silent_p.S257S|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	257	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CACACCAGTAAGACCCTGAGT	0.532																																																	0													113	103	107					1																	157667003		2203	4300	6503	SO:0001819	synonymous_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.771T>C	1.37:g.157667003A>G			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S257	ENST00000368184.3	37	c.771	CCDS1167.1	1																																																																																			FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160856		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	74	0	A	NM_052939		157667003	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.067	G	G	157667003	A	G	157667003	2	3	12	1	0	0	0	0	0	0	0	1	5818	59	3	4		4	FCRL3	1	157667003	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	4783413	157667003	91583618	22	3125											
DARC	2532	genome.wustl.edu	37	chr1	159176207	159176207	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctccctgaaggatggtcTtctcatctggacacccttgg	6	11	9	15	0	3	1	1	1	3	0	5	3	4	3	4	4	0	0	4	4	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:159176207T>G	ENST00000368122.2	+	2	1657	c.978T>G	c.(976-978)tcT>tcG	p.S326S	DARC_ENST00000537147.1_Silent_p.S326S|DARC_ENST00000368121.2_Silent_p.S328S|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		326			S -> F (in dbSNP:rs17851570). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6}.		chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					AAGGATGGTCTTCTCATCTGG	0.537																																																	0													214	231	226					1																	159176207		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000368122.2:c.978T>G	1.37:g.159176207T>G			A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	prints_Duffy_chemokine_rcpt	p.S328	ENST00000368122.2	37	c.984	CCDS1183.1	1																																																																																			DARC	-	NULL	ENSG00000213088		0.537	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	HGNC	protein_coding	OTTHUMT00000090338.2	-	0	80	0	T			159176207	1	tier1	-	no_errors	ENST00000368121	ensembl	human	known	74_37	silent	28.75	57	23	SNP	0.023	G	G	159176207	T	G	159176207	2	3	12	1	0	0	0	0	0	0	0	1	4249	1596	56	4		4	DARC	1	159176207	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1509204	159176207	90074414	23	3126											
OR10J5	127385	genome.wustl.edu	37	chr1	159505541	159505541	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataggttggttatgaaaaAtgaggctcaaaagcattcgt	15	11	11	4	1	1	3	1	2	0	1	2	3	1	3	0	3	1	4	0	3	6	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:159505541A>C	ENST00000334857.2	-	1	301	c.257T>G	c.(256-258)aTt>aGt	p.I86S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GTTATGAAAAATGAGGCTCAA	0.443																																																	0													152	128	136					1																	159505541		2203	4300	6503	SO:0001583	missense	0				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.257T>G	1.37:g.159505541A>C	ENSP00000334441:p.Ile86Ser		B9EH35|Q6IFH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I86S	ENST00000334857.2	37	c.257	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287339	0.23478	.	.	ENSG00000184155	ENST00000334857	T	0.00417	7.5	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.27975	0.815	0.09310	N	1	B	0.27068	0.167	B	0.29598	0.104	T	0.39375	-0.9617	9	0.87932	D	0	.	11.737	0.51771	1.0:0.0:0.0:0.0	.	86	Q8NHC4	O10J5_HUMAN	S	86	ENSP00000334441:I86S	ENSP00000334441:I86S	I	-	2	0	OR10J5	157772165	0.605000	0.26941	0.825000	0.32803	0.183000	0.23260	5.697000	0.68295	1.927000	0.55829	0.383000	0.25322	ATT	OR10J5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184155		0.443	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	-	0	40	0	A	NM_001004469		159505541	-1	tier1	-	no_errors	ENST00000334857	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.134	C	C	159505541	A	C	159505541	3	2	12	1	0	0	0	0	1	0	0	0	10951	101	4	4	674	4	OR10J5	1	159505541	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	329334	159505541	89745080	24	3127											
COPA	1314	genome.wustl.edu	37	chr1	160264608	160264608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccctctgtaccaacaGtgtcaatgtcaatgtcagca	11	9	7	14	0	4	0	3	0	1	0	4	0	4	0	3	0	4	2	3	0	4	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:160264608G>T	ENST00000241704.7	-	24	2745	c.2516C>A	c.(2515-2517)aCt>aAt	p.T839N	COPA_ENST00000368069.3_Missense_Mutation_p.T848N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	839					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACCAACAGTGTCAATGTC	0.507																																																	0													157	134	142					1																	160264608		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2516C>A	1.37:g.160264608G>T	ENSP00000241704:p.Thr839Asn		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T848N	ENST00000241704.7	37	c.2543	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068037	0.36470	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.42513	0.97;0.97	5.93	5.93	0.95920	Coatomer, alpha subunit, C-terminal (1);	0.102199	0.64402	D	0.000002	T	0.17704	0.0425	N	0.22421	0.69	0.43003	D	0.994529	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.05305	-1.0893	10	0.19147	T	0.46	-19.9134	17.8477	0.88736	0.0:0.0:1.0:0.0	.	839;848	P53621;P53621-2	COPA_HUMAN;.	N	848;839	ENSP00000357048:T848N;ENSP00000241704:T839N	ENSP00000241704:T839N	T	-	2	0	COPA	158531232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.165000	0.64959	2.826000	0.97356	0.655000	0.94253	ACT	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.507	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1		0	72	0	G	NM_004371		160264608	-1			no_errors	ENST00000368069	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	160264608	G	T	160264608	3	4	12	1	0	0	0	0	1	0	0	0	3734	1029	36	3	1198	3	COPA	1	160264608	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	759067	160264608	88986013	25	3128											
MAEL	84944	genome.wustl.edu	37	chr1	166974517	166974517	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaagatctacaacttcTcactgtagaggaccttgtag	12	10	9	10	0	2	2	1	0	2	2	3	3	2	3	1	2	2	3	1	2	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:166974517T>G	ENST00000367872.4	+	8	972	c.728T>G	c.(727-729)cTc>cGc	p.L243R	MAEL_ENST00000367870.2_Missense_Mutation_p.L212R|RNA5SP65_ENST00000363166.1_RNA|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	243					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTACAACTTCTCACTGTAGAG	0.388																																																	0													60	65	63					1																	166974517		2203	4300	6503	SO:0001583	missense	0			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.728T>G	1.37:g.166974517T>G	ENSP00000356846:p.Leu243Arg		B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain	p.L243R	ENST00000367872.4	37	c.728	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694805	0.30052	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.50548	0.75;0.74;0.78	5.66	4.5	0.54988	.	0.225631	0.31427	N	0.007663	T	0.15262	0.0368	N	0.24115	0.695	0.33185	D	0.550096	B;B	0.16802	0.015;0.019	B;B	0.20955	0.008;0.032	T	0.07809	-1.0753	10	0.25106	T	0.35	.	10.0239	0.42059	0.0:0.0:0.3273:0.6727	.	212;243	E9JVC3;Q96JY0	.;MAEL_HUMAN	R	243;212;212	ENSP00000356846:L243R;ENSP00000356844:L212R;ENSP00000402143:L212R	ENSP00000356844:L212R	L	+	2	0	MAEL	165241141	0.988000	0.35896	0.963000	0.40424	0.828000	0.46876	1.363000	0.34159	0.937000	0.37394	0.482000	0.46254	CTC	MAEL	-	superfamily_CH-domain	ENSG00000143194		0.388	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	-	0	63	0	T	NM_032858		166974517	1	tier1	-	no_errors	ENST00000367872	ensembl	human	known	74_37	missense	40.74	32	22	SNP	0.840	G	G	166974517	T	G	166974517	3	3	12	1	0	0	0	0	1	0	0	0	9190	1551	54	4	758	4	MAEL	1	166974517	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	6709909	166974517	82276104	26	3129											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564118	176564118	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttggtcctgacagcgagcTttgagcctgtgaacacagag	10	9	12	10	1	0	4	0	3	0	1	1	5	1	4	2	1	4	1	2	1	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:176564118T>G	ENST00000367662.3	+	3	2542	c.1378T>G	c.(1378-1380)Ttt>Gtt	p.F460V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.F460V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	460	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACAGCGAGCTTTGAGCCTGT	0.542																																																	0													94	100	98					1																	176564118		2096	4218	6314	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1378T>G	1.37:g.176564118T>G	ENSP00000356634:p.Phe460Val		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.F460V	ENST00000367662.3	37	c.1378	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.617251	0.28801	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.39056	4.27;1.1	5.08	3.96	0.45880	.	0.255981	0.39274	N	0.001413	T	0.58892	0.2154	M	0.74881	2.28	0.09310	N	1	D;D	0.71674	0.997;0.998	D;P	0.64506	0.926;0.859	T	0.51911	-0.8645	10	0.72032	D	0.01	-14.9126	9.9293	0.41512	0.0:0.081:0.0:0.919	.	460;460	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	460	ENSP00000356634:F460V;ENSP00000356633:F460V	ENSP00000356633:F460V	F	+	1	0	PAPPA2	174830741	1.000000	0.71417	0.088000	0.20740	0.009000	0.06853	3.756000	0.55205	1.910000	0.55303	0.528000	0.53228	TTT	PAPPA2	-	NULL	ENSG00000116183		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	72	0	T			176564118	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	24.14	43	14	SNP	0.077	G	G	176564118	T	G	176564118	3	3	12	1	0	0	0	0	1	0	0	0	11472	1609	56	4	1384	4	PAPPA2	1	176564118	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	9589601	176564118	72686503	27	3130											
DHX9	1660	genome.wustl.edu	37	chr1	182822528	182822528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaggattactactcaaGaaaggaagaacaagaagtgc	18	7	10	6	0	1	4	1	1	0	3	1	6	1	6	0	2	4	0	0	2	9	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:182822528G>T	ENST00000367549.3	+	5	562	c.452G>T	c.(451-453)aGa>aTa	p.R151I		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	151	Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TACTACTCAAGAAAGGAAGAA	0.463																																					Colon(69;210 1162 3697 13559 39565)												0													57	60	59					1																	182822528		1904	4116	6020	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.452G>T	1.37:g.182822528G>T	ENSP00000356520:p.Arg151Ile		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.R151I	ENST00000367549.3	37	c.452	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151517	0.38021	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.04194	3.68	5.52	1.32	0.21799	.	0.426666	0.23272	N	0.050008	T	0.05090	0.0136	L	0.60455	1.87	0.50039	D	0.999848	B	0.06786	0.001	B	0.09377	0.004	T	0.35475	-0.9787	10	0.32370	T	0.25	.	4.6264	0.12481	0.2537:0.0:0.5964:0.1498	.	151	Q08211	DHX9_HUMAN	I	151	ENSP00000356520:R151I	ENSP00000356520:R151I	R	+	2	0	DHX9	181089151	0.815000	0.29118	0.982000	0.44146	0.992000	0.81027	-0.017000	0.12590	-0.018000	0.14079	-0.355000	0.07637	AGA	DHX9	-	NULL	ENSG00000135829		0.463	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2		0	46	0	G	NM_030588		182822528	1			no_errors	ENST00000367549	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.964	T	T	182822528	G	T	182822528	3	4	12	1	0	0	0	0	1	0	0	0	4530	942	33	3	466	3	DHX9	1	182822528	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	6258410	182822528	66428093	28	3131											
KCNT2	343450	genome.wustl.edu	37	chr1	196451484	196451484	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagccccacaaaggtagacTtctgttcacccaaaagatat	15	9	6	11	0	2	2	1	0	1	2	2	2	2	2	3	1	1	2	3	1	6	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:196451484T>G	ENST00000294725.9	-	4	1216	c.301A>C	c.(301-303)Agt>Cgt	p.S101R	KCNT2_ENST00000367431.4_Missense_Mutation_p.S101R|KCNT2_ENST00000367433.5_Missense_Mutation_p.S101R|KCNT2_ENST00000609185.1_Missense_Mutation_p.S101R|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	101					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGGTAGACTTCTGTTCACC	0.289																																																	0													59	55	56					1																	196451484		2202	4300	6502	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.301A>C	1.37:g.196451484T>G	ENSP00000294725:p.Ser101Arg		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.S101R	ENST00000294725.9	37	c.301	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298361	0.40694	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.17370	2.28;2.28;2.54	5.44	4.25	0.50352	.	0.079635	0.53938	D	0.000052	T	0.15696	0.0378	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.11235	0.004;0.001;0.002;0.004	B;B;B;B	0.10450	0.002;0.005;0.005;0.002	T	0.03364	-1.1044	10	0.48119	T	0.1	-21.5096	11.4097	0.49919	0.1351:0.0:0.0:0.8649	.	101;101;101;101	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	R	101	ENSP00000356403:S101R;ENSP00000356401:S101R;ENSP00000294725:S101R	ENSP00000294725:S101R	S	-	1	0	KCNT2	194718107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.280000	0.43443	2.183000	0.69458	0.533000	0.62120	AGT	KCNT2	-	NULL	ENSG00000162687		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	57	0	T	NM_198503		196451484	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	35.42	30	17	SNP	1.000	G	G	196451484	T	G	196451484	3	3	12	1	0	0	0	0	1	0	0	0	8119	1609	56	4	3206	4	KCNT2	1	196451484	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	13628956	196451484	52799137	29	3132											
CFHR5	81494	genome.wustl.edu	37	chr1	196965228	196965228	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccctccctatcaacaTggagtttcagtcgaggtgaa	9	12	9	11	1	3	1	2	1	1	0	6	3	5	2	2	2	1	1	2	2	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:196965228T>C	ENST00000256785.4	+	6	976	c.867T>C	c.(865-867)caT>caC	p.H289H	CFHR5_ENST00000367414.5_Silent_p.H313H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	289	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCTATCAACATGGAGTTTCAG	0.378																																																	0													146	139	141					1																	196965228		2203	4300	6503	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.867T>C	1.37:g.196965228T>C			Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H313	ENST00000256785.4	37	c.939	CCDS1387.1	1																																																																																			CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.378	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	-	0	51	0	T	NM_030787		196965228	1	tier1	-	no_errors	ENST00000367414	ensembl	human	known	74_37	silent	40.00	30	20	SNP	0.959	C	C	196965228	T	C	196965228	2	2	12	1	0	0	0	0	0	0	0	1	3295	1461	51	4		4	CFHR5	1	196965228	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	513744	196965228	52285393	30	3133											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204425171	204425171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggtcagggcttccaCgaccttctctgggaagggaa	8	7	15	11	2	2	0	1	0	1	0	4	3	3	2	2	5	1	2	2	5	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:204425171C>T	ENST00000367187.3	-	12	2312	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.V586M	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	586					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGGCTTCCACGACCTTCTCT	0.577																																																	0													62	56	59					1																	204425171		2203	4300	6503	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1756G>A	1.37:g.204425171C>T	ENSP00000356155:p.Val586Met		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.V586M	ENST00000367187.3	37	c.1756	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428784	0.43122	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.44083	0.93;0.93	5.42	4.51	0.55191	.	0.154543	0.40908	N	0.000996	T	0.32852	0.0843	L	0.39397	1.21	0.33015	D	0.528027	B;B	0.26445	0.02;0.149	B;B	0.18871	0.01;0.023	T	0.42120	-0.9470	10	0.35671	T	0.21	.	12.1278	0.53926	0.0:0.9195:0.0:0.0805	.	586;586	F5GWN5;O00750	.;P3C2B_HUMAN	M	586	ENSP00000356155:V586M;ENSP00000400561:V586M	ENSP00000356155:V586M	V	-	1	0	PIK3C2B	202691794	0.999000	0.42202	0.945000	0.38365	0.987000	0.75469	4.299000	0.59073	1.279000	0.44446	0.655000	0.94253	GTG	PIK3C2B	-	NULL	ENSG00000133056		0.577	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0	39	0	C	NM_002646		204425171	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.992	T	T	204425171	C	T	204425171	3	4	12	1	0	0	0	0	1	0	0	0	11949	536	19	1	3240	1	PIK3C2B	1	204425171	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	7459943	204425171	44825450	31	3134											
NFASC	23114	genome.wustl.edu	37	chr1	204955041	204955041	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcctctgtcccgaaggccTactactggagggagagcagc	8	7	13	13	1	1	1	0	0	1	1	2	4	2	2	3	3	5	1	3	3	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:204955041T>G	ENST00000404076.1	+	21	2949	c.2527T>G	c.(2527-2529)Tac>Gac	p.Y843D	NFASC_ENST00000367170.4_Missense_Mutation_p.Y864D|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000338586.6_Missense_Mutation_p.Y864D|NFASC_ENST00000539706.1_Missense_Mutation_p.Y860D|NFASC_ENST00000367172.4_Missense_Mutation_p.Y864D|NFASC_ENST00000367171.4_Missense_Mutation_p.Y849D|NFASC_ENST00000404907.1_Missense_Mutation_p.Y860D|NFASC_ENST00000338515.6_Missense_Mutation_p.Y864D|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000360049.4_Missense_Mutation_p.Y860D|NFASC_ENST00000513543.1_Missense_Mutation_p.Y860D			O94856	NFASC_HUMAN	neurofascin	864	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCGAAGGCCTACTACTGGAG	0.602																																																	0													35	29	31					1																	204955041		2203	4300	6503	SO:0001583	missense	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000404076.1:c.2527T>G	1.37:g.204955041T>G	ENSP00000385676:p.Tyr843Asp		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y864D	ENST00000404076.1	37	c.2590		1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241341	0.79912	.	.	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000404076;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000210	T	0.71685	0.3369	M	0.75085	2.285	0.80722	D	1	P;D;P;P;D	0.89917	0.903;1.0;0.882;0.882;0.996	P;D;P;P;D	0.78314	0.744;0.991;0.718;0.627;0.963	T	0.71062	-0.4701	10	0.35671	T	0.21	.	15.7969	0.78420	0.0:0.0:0.0:1.0	.	864;875;860;849;860	O94856;O94856-11;O94856-8;F8W791;O94856-3	NFASC_HUMAN;.;.;.;.	D	864;849;864;864;864;875;860;860;843;860;860;851	ENSP00000356140:Y864D;ENSP00000356139:Y849D;ENSP00000356138:Y864D;ENSP00000342128:Y864D;ENSP00000343509:Y864D;ENSP00000438614:Y860D;ENSP00000353154:Y860D;ENSP00000385676:Y843D;ENSP00000384061:Y860D;ENSP00000425908:Y860D;ENSP00000415031:Y851D	ENSP00000295776:Y875D	Y	+	1	0	NFASC	203221664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.201000	0.72124	2.207000	0.71202	0.533000	0.62120	TAC	NFASC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163531		0.602	NFASC-012	NOVEL	not_organism_supported|basic	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131243.1		0	13	0	T	NM_001005388		204955041	1			no_errors	ENST00000367172	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	G	G	204955041	T	G	204955041	3	3	12	1	0	0	0	0	1	0	0	0	10398	1522	53	4	2756	4	NFASC	1	204955041	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	529870	204955041	44295580	32	3135											
IL20	50604	genome.wustl.edu	37	chr1	207039974	207039974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccatcaagaaggacctccGgctctgtgtgagtgtgggtc	8	10	13	10	1	2	2	1	1	1	1	4	3	3	3	3	3	1	1	3	3	3	1	rs369436616		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:207039974G>A	ENST00000367098.1	+	4	734	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	IL20_ENST00000391930.2_Missense_Mutation_p.R124Q|IL20_ENST00000367096.3_Missense_Mutation_p.R124Q			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		AAGGACCTCCGGCTCTGTGTG	0.478																																																	0								G	GLN/ARG	0,4406		0,0,2203	138	139	138		371	2.4	1	1		138	2,8598	2.2+/-6.3	0,2,4298	no	missense	IL20	NM_018724.3	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	124/177	207039974	2,13004	2203	4300	6503	SO:0001583	missense	0			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"Interleukins and interleukin receptors"	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.371G>A	1.37:g.207039974G>A	ENSP00000356065:p.Arg124Gln		Q14CE5	Missense_Mutation	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-20,prints_IL-24	p.R124Q	ENST00000367098.1	37	c.371	CCDS1470.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.826918	0.32329	0.0	2.33E-4	ENSG00000162891	ENST00000367098;ENST00000367096;ENST00000391930	T;T;T	0.71698	-0.59;-0.59;2.28	5.06	2.42	0.29668	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.310366	0.31472	N	0.007599	T	0.51041	0.1651	L	0.38953	1.18	0.31138	N	0.706913	B;B	0.32203	0.36;0.233	B;B	0.22386	0.039;0.029	T	0.48614	-0.9020	10	0.30854	T	0.27	-0.036	5.3377	0.15967	0.165:0.1852:0.6498:0.0	.	124;124	Q2THG6;Q9NYY1	.;IL20_HUMAN	Q	124	ENSP00000356065:R124Q;ENSP00000356063:R124Q;ENSP00000375796:R124Q	ENSP00000356063:R124Q	R	+	2	0	IL20	205106597	0.000000	0.05858	0.968000	0.41197	0.998000	0.95712	0.634000	0.24614	0.304000	0.22809	0.655000	0.94253	CGG	IL20	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam	ENSG00000162891		0.478	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20	HGNC	protein_coding	OTTHUMT00000088676.1	-	0	24	0	G	NM_018724		207039974	1	tier1	-	no_errors	ENST00000367096	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.995	A	A	207039974	G	A	207039974	3	1	12	1	0	0	0	0	1	0	0	0	7694	1116	39	1	381	1	IL20	1	207039974	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	2084933	207039974	42210647	33	3136											
TMEM206	55248	genome.wustl.edu	37	chr1	212551021	212551021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaataggcactctcacaGgcctgcatgaagcctaccct	10	8	9	14	0	1	1	1	1	1	0	2	2	1	2	3	3	3	2	3	3	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:212551021G>T	ENST00000261455.4	-	6	803	c.666C>A	c.(664-666)gcC>gcA	p.A222A	TMEM206_ENST00000535273.1_Silent_p.A283A	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	222						cell surface (GO:0009986)|integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CACTCTCACAGGCCTGCATGA	0.577																																																	0													97	89	91					1																	212551021		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.666C>A	1.37:g.212551021G>T			B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	NULL	p.A283	ENST00000261455.4	37	c.849	CCDS1504.1	1																																																																																			TMEM206	-	NULL	ENSG00000065600		0.577	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM206	HGNC	protein_coding	OTTHUMT00000089306.1	-	0	40	0	G	NM_018252		212551021	-1	tier1	-	no_errors	ENST00000535273	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	212551021	G	T	212551021	2	4	12	1	0	0	0	0	0	0	0	1	16178	987	35	3		3	TMEM206	1	212551021	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	5511047	212551021	36699600	34	3137											
RPS6KC1	26750	genome.wustl.edu	37	chr1	213414381	213414381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgcaatgaatatgggcAagaaaagattgaaccagggt	17	9	11	4	0	0	4	0	2	0	2	0	4	0	4	1	2	2	2	1	2	8	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:213414381A>G	ENST00000366960.3	+	11	1712	c.1562A>G	c.(1561-1563)cAa>cGa	p.Q521R	RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Q309R|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Q509R|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Q224R	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	521					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAATATGGGCAAGAAAAGATT	0.403																																																	0													38	39	39					1																	213414381		2203	4300	6503	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1562A>G	1.37:g.213414381A>G	ENSP00000355927:p.Gln521Arg		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom	p.Q521R	ENST00000366960.3	37	c.1562	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.251641	0.59212	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.64991	0.39;0.68;0.71;-0.13	5.59	4.47	0.54385	.	0.062472	0.64402	D	0.000004	T	0.76154	0.3948	M	0.71581	2.175	0.48571	D	0.999677	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.993;0.993	T	0.77349	-0.2621	10	0.72032	D	0.01	-2.0711	11.0517	0.47894	0.9278:0.0:0.0722:0.0	.	309;521;509	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	R	309;521;509;224	ENSP00000442306:Q309R;ENSP00000355927:Q521R;ENSP00000355926:Q509R;ENSP00000439282:Q224R	ENSP00000355926:Q509R	Q	+	2	0	RPS6KC1	211481004	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	5.713000	0.68415	0.972000	0.38314	0.377000	0.23210	CAA	RPS6KC1	-	NULL	ENSG00000136643		0.403	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3		0	21	0	A	NM_012424		213414381	1			no_errors	ENST00000366960	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	G	G	213414381	A	G	213414381	3	3	12	1	0	0	0	0	1	0	0	0	13703	130	5	4	1604	4	RPS6KC1	1	213414381	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	863360	213414381	35836240	35	3138											
USH2A	7399	genome.wustl.edu	37	chr1	215990382	215990382	+	Frame_Shift_Del	DEL	G	G	-																															tgtgtccacagatagattcaGgtttttgacacctcactgcc																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:215990382delG	ENST00000307340.3	-	48	9913	c.9527delC	c.(9526-9528)cctfs	p.P3176fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.P3176fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3176	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATAGATTCAGGTTTTTGACA	0.403										HNSCC(13;0.011)																																							0													167	151	156					1																	215990382		2203	4299	6502	SO:0001589	frameshift_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9527delC	1.37:g.215990382delG	ENSP00000305941:p.Pro3176fs		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P3176fs	ENST00000307340.3	37	c.9527	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	45	0	G	NM_007123		215990382	-1	tier1		no_errors	ENST00000366943	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.001	-	-	215990382	G	-	215990382	7	5	12	1	0	1	0	1	0	0	0	0	17085	1000	35	0	6181	0	USH2A	1	215990382	Frame_Shift_Del	DEL	G	TCGA-2H-A9GR-01A-12D-A37C-09	2576001	215990382	33260239	36	3139											
MARK1	4139	genome.wustl.edu	37	chr1	220754431	220754431	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgaaaataatagacaaaActcagctaaatcctaccagt	18	9	5	9	0	1	2	1	1	0	1	2	2	2	2	2	0	3	1	2	0	9	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:220754431A>C	ENST00000366917.4	+	3	546	c.280A>C	c.(280-282)Act>Cct	p.T94P	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000366918.4_Missense_Mutation_p.T94P					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AATAGACAAAACTCAGCTAAA	0.229																																																	0													19	20	19					1																	220754431		2098	4136	6234	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.280A>C	1.37:g.220754431A>C	ENSP00000355884:p.Thr94Pro			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.T94P	ENST00000366917.4	37	c.280	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.979048	0.92982	.	.	ENSG00000116141	ENST00000366918;ENST00000366917	T;T	0.65178	1.84;-0.14	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	N	0.16862	0.45	0.80722	D	1	B;D;D	0.89917	0.408;0.996;1.0	P;D;D	0.74348	0.543;0.95;0.983	T	0.72782	-0.4189	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	94;94;94	B4DIB3;Q9P0L2;Q9P0L2-3	.;MARK1_HUMAN;.	P	94	ENSP00000355885:T94P;ENSP00000355884:T94P	ENSP00000355884:T94P	T	+	1	0	MARK1	218821054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.960000	0.93117	2.246000	0.74042	0.533000	0.62120	ACT	MARK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000116141		0.229	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	107	0	A			220754431	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	22.33	80	23	SNP	1.000	C	C	220754431	A	C	220754431	3	2	12	1	0	0	0	0	1	0	0	0	9350	43	2	4	290	4	MARK1	1	220754431	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	4764049	220754431	28496190	37	3140											
URB2	9816	genome.wustl.edu	37	chr1	229772378	229772378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctctcttggtacatattGcttagaacagctgtacctgc	9	13	8	11	0	1	1	0	0	1	1	2	1	1	1	1	1	7	5	1	1	5	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:229772378G>T	ENST00000258243.2	+	4	2154	c.2018G>T	c.(2017-2019)tGc>tTc	p.C673F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	673						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGTACATATTGCTTAGAACAG	0.443																																																	0													159	170	166					1																	229772378		2203	4300	6503	SO:0001583	missense	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.2018G>T	1.37:g.229772378G>T	ENSP00000258243:p.Cys673Phe		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.C673F	ENST00000258243.2	37	c.2018	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466768	0.26335	.	.	ENSG00000135763	ENST00000258243	T	0.35421	1.31	5.12	5.12	0.69794	.	0.157883	0.56097	D	0.000023	T	0.53110	0.1776	M	0.67953	2.075	0.58432	D	0.999997	D	0.65815	0.995	P	0.62298	0.9	T	0.51387	-0.8712	9	.	.	.	-17.3162	12.3251	0.55007	0.0779:0.0:0.9221:0.0	.	673	Q14146	URB2_HUMAN	F	673	ENSP00000258243:C673F	.	C	+	2	0	URB2	227839001	1.000000	0.71417	0.913000	0.36048	0.048000	0.14542	5.039000	0.64185	2.558000	0.86282	0.585000	0.79938	TGC	URB2	-	NULL	ENSG00000135763		0.443	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1		0	60	0	G	NM_014777		229772378	1			no_errors	ENST00000258243	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	229772378	G	T	229772378	3	4	12	1	0	0	0	0	1	0	0	0	17074	1319	46	3	2028	3	URB2	1	229772378	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	9017947	229772378	19478243	38	3141											
ERO1LB	56605	genome.wustl.edu	37	chr1	236390006	236390006	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcatgaagtcccgatataAgcttatagaagactcttttc	13	13	7	8	1	1	3	0	1	1	2	3	4	2	3	1	0	2	2	1	0	7	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:236390006A>C	ENST00000354619.5	-	11	947	c.746T>G	c.(745-747)cTt>cGt	p.L249R		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	249					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TCCCGATATAAGCTTATAGAA	0.318																																																	0													73	79	77					1																	236390006		2199	4296	6495	SO:0001583	missense	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.746T>G	1.37:g.236390006A>C	ENSP00000346635:p.Leu249Arg		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	pfam_Ero1,pirsf_Ero1	p.L249R	ENST00000354619.5	37	c.746	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423775	0.83667	.	.	ENSG00000086619	ENST00000354619	T	0.61392	0.11	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82296	0.5006	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87058	0.2151	10	0.87932	D	0	-18.0048	16.3547	0.83232	1.0:0.0:0.0:0.0	.	249	Q86YB8	ERO1B_HUMAN	R	249	ENSP00000346635:L249R	ENSP00000346635:L249R	L	-	2	0	ERO1LB	234456629	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.858000	0.92256	2.263000	0.75096	0.472000	0.43445	CTT	ERO1LB	-	pfam_Ero1,pirsf_Ero1	ENSG00000086619		0.318	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	-	0	53	0	A	NM_019891		236390006	-1	tier1	-	no_errors	ENST00000354619	ensembl	human	known	74_37	missense	20.27	58	15	SNP	1.000	C	C	236390006	A	C	236390006	3	2	12	1	0	0	0	0	1	0	0	0	5256	72	3	4	681	4	ERO1LB	1	236390006	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	6617628	236390006	12860615	39	3142											
RYR2	6262	genome.wustl.edu	37	chr1	237604648	237604648	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtaggggtgagaaaagaAgtagatggcatgggaacatc	15	7	16	3	0	0	3	0	1	0	3	1	6	0	4	0	4	1	3	0	4	6	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:237604648A>G	ENST00000366574.2	+	13	1352	c.1035A>G	c.(1033-1035)gaA>gaG	p.E345E	RYR2_ENST00000542537.1_Silent_p.E329E|RYR2_ENST00000360064.6_Silent_p.E343E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	345					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGAAAAGAAGTAGATGGCA	0.393																																																	0													147	141	143					1																	237604648		1854	4106	5960	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1035A>G	1.37:g.237604648A>G			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E343	ENST00000366574.2	37	c.1029	CCDS55691.1	1																																																																																			RYR2	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif	ENSG00000198626		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	51	0	A	NM_001035		237604648	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	43.18	25	19	SNP	0.997	G	G	237604648	A	G	237604648	2	3	12	1	0	0	0	0	0	0	0	1	13814	69	3	4		4	RYR2	1	237604648	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1214642	237604648	11645973	40	3143											
FMN2	56776	genome.wustl.edu	37	chr1	240458167	240458167	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacctggagacccttcAagctctctatgagaatgtga	10	11	11	9	0	2	4	1	3	1	2	3	6	2	4	2	2	1	2	2	2	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:240458167A>G	ENST00000319653.9	+	8	4429	c.4199A>G	c.(4198-4200)cAa>cGa	p.Q1400R	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1400	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGACCCTTCAAGCTCTCTAT	0.353																																																	0													137	137	137					1																	240458167		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4199A>G	1.37:g.240458167A>G	ENSP00000318884:p.Gln1400Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.Q1400R	ENST00000319653.9	37	c.4199	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194847	0.78902	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000537355	T;T	0.18810	2.19;2.19	5.27	5.27	0.74061	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000013	T	0.44912	0.1316	M	0.67625	2.065	0.80722	D	1	B;D;P	0.76494	0.01;0.999;0.939	B;D;P	0.83275	0.012;0.996;0.906	T	0.42949	-0.9421	10	0.87932	D	0	.	14.0505	0.64732	1.0:0.0:0.0:0.0	.	46;29;1400	F5H2C1;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	R	1400;46;27	ENSP00000318884:Q1400R;ENSP00000388922:Q46R	ENSP00000318884:Q1400R	Q	+	2	0	FMN2	238524790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.622000	0.83099	2.133000	0.65898	0.528000	0.53228	CAA	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.353	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	79	0	A	XM_371352		240458167	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	G	G	240458167	A	G	240458167	3	3	12	1	0	0	0	0	1	0	0	0	5972	130	5	4	4229	4	FMN2	1	240458167	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2853519	240458167	8792454	41	3144											
OPN3	23596	genome.wustl.edu	37	chr1	241761155	241761155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccaggtgaccatgaccatTaaccaccaagaagcagatca	16	5	8	12	0	1	4	1	2	0	2	1	5	1	4	5	1	2	1	5	1	3	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:241761155T>C	ENST00000366554.2	-	3	944	c.838A>G	c.(838-840)Aat>Gat	p.N280D	OPN3_ENST00000331838.5_Missense_Mutation_p.N201D|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	280					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CCATGACCATTAACCACCAAG	0.368																																																	0													168	159	162					1																	241761155		2203	4300	6503	SO:0001583	missense	0			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"GPCR / Class A : Opsin receptors"	14007	protein-coding gene	gene with protein product	"panopsin", "protein phosphatase 1, regulatory subunit 116"	606695	"encephalopsin"	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.838A>G	1.37:g.241761155T>C	ENSP00000355512:p.Asn280Asp		Q8IX08|Q9Y344	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.N280D	ENST00000366554.2	37	c.838	CCDS31072.1	1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.152786	0.38021	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.37058	1.22;1.22	4.49	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.138956	0.49305	D	0.000151	T	0.29914	0.0748	L	0.49513	1.565	0.28360	N	0.920509	P	0.37573	0.6	B	0.39299	0.296	T	0.12863	-1.0531	10	0.36615	T	0.2	.	6.0632	0.19848	0.1959:0.0:0.1386:0.6655	.	280	Q9H1Y3	OPN3_HUMAN	D	280;201	ENSP00000355512:N280D;ENSP00000328018:N201D	ENSP00000328018:N201D	N	-	1	0	OPN3	239827778	0.999000	0.42202	0.856000	0.33681	0.233000	0.25261	2.396000	0.44468	1.794000	0.52575	0.533000	0.62120	AAT	OPN3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000054277		0.368	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN3	HGNC	protein_coding	OTTHUMT00000095713.1	-	0	38	0	T	NM_014322		241761155	-1	tier1	-	no_errors	ENST00000366554	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.990	C	C	241761155	T	C	241761155	3	2	12	1	0	0	0	0	1	0	0	0	10920	1754	61	4	378	4	OPN3	1	241761155	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1302988	241761155	7489466	42	3145											
PLD5	200150	genome.wustl.edu	37	chr1	242277236	242277236	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtagtccatgacagcGatgtacacatactgcttggc	10	9	12	10	1	0	1	0	1	0	0	1	2	1	1	1	3	4	4	1	3	3	4	rs576261716	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:242277236G>T	ENST00000536534.2	-	7	1267	c.1026C>A	c.(1024-1026)atC>atA	p.I342I	PLD5_ENST00000442594.2_Silent_p.I250I|PLD5_ENST00000427495.1_Silent_p.I280I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	342						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.I250M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCATGACAGCGATGTACACAT	0.458																																																	1	Substitution - Missense(1)	skin(1)											190	142	159					1																	242277236		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1026C>A	1.37:g.242277236G>T			A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	smart_PLipase_D/transphosphatidylase	p.I342	ENST00000536534.2	37	c.1026	CCDS1621.2	1																																																																																			PLD5	-	NULL	ENSG00000180287		0.458	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2		0	64	0	G	NM_152666		242277236	-1			no_errors	ENST00000536534	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.862	T	T	242277236	G	T	242277236	2	4	12	1	0	0	0	0	0	0	0	1	12088	1048	37	2		2	PLD5	1	242277236	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	516081	242277236	6973385	43	3146											
ZNF496	84838	genome.wustl.edu	37	chr1	247486494	247486494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctgctgtgtgtcccGcacattctcttcctgaagaa	7	12	9	13	1	2	2	1	1	1	1	5	2	4	2	3	1	1	2	3	1	2	2	rs148779406		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:247486494G>A	ENST00000294753.4	-	5	1077	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	ZNF496_ENST00000366498.2_Missense_Mutation_p.R205W	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	205					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGTGTGTCCCGCACATTCTCT	0.537																																																	0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	80	73	75		613	0.3	0	1	dbSNP_134	75	0,8600		0,0,4300	yes	missense	ZNF496	NM_032752.1	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	205/588	247486494	2,13004	2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.613C>T	1.37:g.247486494G>A	ENSP00000294753:p.Arg205Trp		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R205W	ENST00000294753.4	37	c.613	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459253	0.63401	4.54E-4	0.0	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.08634	3.07;3.16	3.87	0.267	0.15622	.	0.665977	0.13893	N	0.355457	T	0.12817	0.0311	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.74674	0.984;0.853	T	0.15838	-1.0423	10	0.72032	D	0.01	-13.5204	5.1148	0.14829	0.0:0.1119:0.4504:0.4377	.	205;205	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	W	205	ENSP00000294753:R205W;ENSP00000355454:R205W	ENSP00000294753:R205W	R	-	1	2	ZNF496	245553117	0.011000	0.17503	0.034000	0.17996	0.721000	0.41392	0.128000	0.15810	0.028000	0.15324	-0.397000	0.06425	CGG	ZNF496	-	NULL	ENSG00000162714		0.537	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	36	0	G	NM_032752		247486494	-1	tier1	rs148779406	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	23.53	25	8	SNP	0.043	A	A	247486494	G	A	247486494	3	1	12	1	0	0	0	0	1	0	0	0	17993	1086	38	1	1170	1	ZNF496	1	247486494	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	5209258	247486494	1764127	44	3147											
OR2T12	127064	genome.wustl.edu	37	chr1	248457939	248457939	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttgacctgtgggcctcAttttgctggtgttttaggtt	4	18	11	8	0	2	1	1	1	1	0	2	1	2	1	2	3	1	3	2	3	1	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:248457939A>G	ENST00000317996.1	-	1	941	c.942T>C	c.(940-942)aaT>aaC	p.N314N		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGTGGGCCTCATTTTGCTGGT	0.418																																																	0													165	164	165					1																	248457939		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.942T>C	1.37:g.248457939A>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N314	ENST00000317996.1	37	c.942	CCDS31110.1	1																																																																																			OR2T12	-	NULL	ENSG00000177201		0.418	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	-	0	91	0	A	NM_001004692		248457939	-1	tier1	-	no_errors	ENST00000317996	ensembl	human	known	74_37	silent	16.18	57	11	SNP	0.000	G	G	248457939	A	G	248457939	2	3	12	1	0	0	0	0	0	0	0	1	11058	214	8	4		4	OR2T12	1	248457939	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	971445	248457939	792682	45	3148											
PGBD2	267002	genome.wustl.edu	37	chr1	249211405	249211407	+	In_Frame_Del	DEL	CAT	CAT	-																															gggaaacctctcccgattcaCatcatcatcttgtggctgat																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr1:249211405_249211407delCAT	ENST00000329291.5	+	3	769_771	c.622_624delCAT	c.(622-624)catdel	p.H210del	PGBD2_ENST00000539153.1_In_Frame_Del_p.H207del|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	210										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCCCGATTCACATCATCATCTTG	0.399																																																	0																																										SO:0001651	inframe_deletion	0			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.622_624delCAT	1.37:g.249211411_249211413delCAT	ENSP00000331643:p.His210del		B3KVR8|Q6MZF8	In_Frame_Del	DEL	NULL	p.H210in_frame_del	ENST00000329291.5	37	c.622_624	CCDS31128.1	1																																																																																			PGBD2	-	NULL	ENSG00000185220		0.399	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1		0	26	0	CAT			249211407	1	tier1		no_errors	ENST00000329291	ensembl	human	known	74_37	in_frame_del	13.79	25	4	DEL	0.992:0.999:1.000	-	-	249211407	CAT	-	249211405	7	5	12	1	0	1	0	1	0	0	0	0	11820	478	17	0	628	0	PGBD2	1	249211405	In_Frame_Del	DEL	CAT	TCGA-2H-A9GR-01A-12D-A37C-09	753466	249211405	39216	46	3149											
MYT1L	23040	genome.wustl.edu	37	chr2	1926975	1926975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcatattcgtcattattgTtatcatccttttctgtgtct	6	22	5	8	1	5	0	3	0	2	0	7	0	6	0	1	0	0	1	1	0	3	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:1926975T>G	ENST00000399161.2	-	10	1313	c.566A>C	c.(565-567)aAc>aCc	p.N189T	MYT1L_ENST00000428368.2_Missense_Mutation_p.N189T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	189					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTCATTATTGTTATCATCCTT	0.388																																																	0													76	71	73					2																	1926975		1921	4135	6056	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.566A>C	2.37:g.1926975T>G	ENSP00000382114:p.Asn189Thr		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.N189T	ENST00000399161.2	37	c.566		2	.	.	.	.	.	.	.	.	.	.	T	14.92	2.677972	0.47886	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.44083	0.93;0.93	5.93	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.34521	1.04	0.58432	D	0.999994	P;P	0.40731	0.608;0.728	B;B	0.39339	0.156;0.297	T	0.03364	-1.1044	10	0.15499	T	0.54	-60.358	11.806	0.52155	0.0:0.0681:0.0:0.9319	.	189;189	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	T	189;137;189	ENSP00000382114:N189T;ENSP00000396103:N189T	ENSP00000295067:N137T	N	-	2	0	MYT1L	1905982	1.000000	0.71417	0.896000	0.35187	0.424000	0.31475	6.148000	0.71788	1.071000	0.40834	0.533000	0.62120	AAC	MYT1L	-	NULL	ENSG00000186487		0.388	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	44	0	T	NM_015025		1926975	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	G	G	1926975	T	G	1926975	3	3	12	1	0	0	0	0	1	0	0	0	10145	1725	60	4	3052	4	MYT1L	2	1926975	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09		1926975	241272398	47	3150											
SOX11	6664	genome.wustl.edu	37	chr2	5833994	5833994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcgccagcgagcagcagCtggggggcggcgcggcggcc	6	1	20	14	6	0	0	0	0	0	0	0	1	0	0	2	6	5	3	2	6	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:5833994C>T	ENST00000322002.3	+	1	1196	c.1141C>T	c.(1141-1143)Ctg>Ttg	p.L381L	AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	381					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CGAGCAGCAGCTggggggcgg	0.662																																																	0													7	7	7					2																	5833994		1861	3581	5442	SO:0001819	synonymous_variant	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.1141C>T	2.37:g.5833994C>T			Q4ZFV8	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.L381	ENST00000322002.3	37	c.1141	CCDS1654.1	2																																																																																			SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.662	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	-	0	47	0	C	NM_003108		5833994	1	tier1	-	no_errors	ENST00000322002	ensembl	human	known	74_37	silent	22.58	48	14	SNP	1.000	T	T	5833994	C	T	5833994	2	4	12	1	0	0	0	0	0	0	0	1	14987	796	28	3		3	SOX11	2	5833994	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	3907019	5833994	237365379	48	3151											
DDX1	1653	genome.wustl.edu	37	chr2	15746352	15746352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctttgttgctctttccaagGcaccggatggttacattgtc	6	15	10	10	1	1	0	0	0	1	0	3	1	2	1	2	3	2	5	2	3	2	5	rs144722775		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:15746352G>A	ENST00000381341.2	+	13	1170	c.781G>A	c.(781-783)Gca>Aca	p.A261T	DDX1_ENST00000233084.3_Missense_Mutation_p.A261T			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	261	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TCTTTCCAAGGCACCGGATGG	0.373																																																	0													79	73	75					2																	15746352		2203	4300	6503	SO:0001583	missense	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.781G>A	2.37:g.15746352G>A	ENSP00000370745:p.Ala261Thr		B4DME8|B4DPN6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A261T	ENST00000381341.2	37	c.781	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.126364	0.94429	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.46819	0.86;0.86	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	L	0.58810	1.83	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.57447	-0.7810	10	0.22706	T	0.39	-18.6489	19.5245	0.95199	0.0:0.0:1.0:0.0	.	261	Q92499	DDX1_HUMAN	T	261;261;245	ENSP00000370745:A261T;ENSP00000233084:A261T	ENSP00000233084:A261T	A	+	1	0	DDX1	15663803	1.000000	0.71417	0.998000	0.56505	0.817000	0.46193	9.711000	0.98735	2.608000	0.88229	0.655000	0.94253	GCA	DDX1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000079785		0.373	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2	-	0	53	0	G	NM_004939		15746352	1	tier1	-	no_errors	ENST00000233084	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	15746352	G	A	15746352	3	1	12	1	0	0	0	0	1	0	0	0	4350	1203	42	3	827	3	DDX1	2	15746352	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	9912358	15746352	227453021	49	3152											
OTOF	9381	genome.wustl.edu	37	chr2	26683806	26683806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgaagatggacacgagggGcacgtccacctccccggtgg	8	6	14	13	3	0	2	0	1	0	1	2	4	2	3	4	5	0	1	4	5	1	1	rs376585613		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:26683806G>A	ENST00000272371.2	-	44	5752	c.5626C>T	c.(5626-5628)Ccc>Tcc	p.P1876S	OTOF_ENST00000338581.6_Missense_Mutation_p.P1109S|OTOF_ENST00000339598.3_Missense_Mutation_p.P1109S|OTOF_ENST00000403946.3_Missense_Mutation_p.P1876S|OTOF_ENST00000402415.3_Missense_Mutation_p.P1186S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1876					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACGAGGGGCACGTCCACC	0.637																																					GBM(102;732 1451 20652 24062 31372)												0													79	64	69					2																	26683806		2203	4300	6503	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5626C>T	2.37:g.26683806G>A	ENSP00000272371:p.Pro1876Ser		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P1876S	ENST00000272371.2	37	c.5626	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454652	0.84209	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.81163	-1.17;-1.18;-1.16;-1.45;-1.46	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	0.167541	0.53938	D	0.000049	D	0.89501	0.6733	M	0.77313	2.365	0.80722	D	1	D;P;D;D	0.89917	1.0;0.863;0.984;0.969	D;P;P;P	0.91635	0.999;0.614;0.833;0.828	D	0.89794	0.3970	10	0.45353	T	0.12	-19.5372	17.3091	0.87204	0.0:0.0:1.0:0.0	.	1876;1109;1186;1109	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	1109;1109;1186;1876;1876	ENSP00000345137:P1109S;ENSP00000344521:P1109S;ENSP00000383906:P1186S;ENSP00000272371:P1876S;ENSP00000385255:P1876S	ENSP00000272371:P1876S	P	-	1	0	OTOF	26537310	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.620000	0.74224	2.180000	0.69256	0.457000	0.33378	CCC	OTOF	-	superfamily_C2_dom	ENSG00000115155		0.637	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	113	0	G			26683806	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	25.61	61	21	SNP	1.000	A	A	26683806	G	A	26683806	3	1	12	1	0	0	0	0	1	0	0	0	11342	1203	42	3	564	3	OTOF	2	26683806	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	10937454	26683806	216515567	50	3153											
SLC8A1	6546	genome.wustl.edu	37	chr2	40657254	40657254	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcaaaatcacccctttcTtacagtaatatgatccagta	13	12	6	10	0	2	1	1	1	1	0	3	1	3	1	3	1	1	3	3	1	6	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:40657254T>G	ENST00000403092.1	-	2	200	c.167A>C	c.(166-168)aAg>aCg	p.K56T	SLC8A1_ENST00000406785.2_Missense_Mutation_p.K56T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.K56T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.K56T|SLC8A1_ENST00000542756.1_Missense_Mutation_p.K56T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.K56T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.K56T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.K56T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.K56T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.K56T			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	56					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.K56T(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CACCCCTTTCTTACAGTAATA	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											124	123	124					2																	40657254		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.167A>C	2.37:g.40657254T>G	ENSP00000384763:p.Lys56Thr		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.K56T	ENST00000403092.1	37	c.167	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	T	10.57	1.387597	0.25031	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.29142	1.59;1.62;1.62;1.62;1.59;1.59;1.62;1.58;1.59;1.59	6.04	6.04	0.98038	.	0.378221	0.33127	N	0.005255	T	0.43500	0.1250	L	0.28504	0.86	0.46279	D	0.998962	B;D;B;B;B	0.61080	0.218;0.989;0.051;0.065;0.017	B;D;B;B;B	0.70487	0.056;0.969;0.023;0.049;0.007	T	0.32955	-0.9887	10	0.54805	T	0.06	.	14.5406	0.67990	0.0:0.0:0.0:1.0	.	56;56;56;56;56	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	T	56	ENSP00000383886:K56T;ENSP00000440727:K56T;ENSP00000384763:K56T;ENSP00000385678:K56T;ENSP00000385188:K56T;ENSP00000385535:K56T;ENSP00000332931:K56T;ENSP00000384908:K56T;ENSP00000385811:K56T;ENSP00000443515:K56T	ENSP00000332931:K56T	K	-	2	0	SLC8A1	40510758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.918000	0.63376	2.317000	0.78254	0.460000	0.39030	AAG	SLC8A1	-	prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	ENSG00000183023		0.418	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0	40	0	T	NM_021097		40657254	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G	G	40657254	T	G	40657254	3	3	12	1	0	0	0	0	1	0	0	0	14751	1609	56	4	2902	4	SLC8A1	2	40657254	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	13973448	40657254	202542119	51	3154											
LHCGR	3973	genome.wustl.edu	37	chr2	48915452	48915452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaacatagcaattagaGaagaaaagagccatcctcca	17	5	10	9	0	0	3	0	0	0	3	2	4	2	3	3	2	3	2	3	2	7	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:48915452G>T	ENST00000294954.7	-	11	1505	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.S468Y|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.S433Y	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	495					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)	p.S495F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCAATTAGAGAAGAAAAGAG	0.438																																																	1	Substitution - Missense(1)	lung(1)											124	110	115					2																	48915452		2203	4300	6503	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1484C>A	2.37:g.48915452G>T	ENSP00000294954:p.Ser495Tyr		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S495Y	ENST00000294954.7	37	c.1484	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	5.322	0.244763	0.10077	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.37752	1.18;1.18;1.18	5.79	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.652243	0.16892	N	0.195294	T	0.26702	0.0653	L	0.47716	1.5	0.09310	N	1	P	0.44627	0.839	B	0.40444	0.329	T	0.10132	-1.0643	9	.	.	.	.	4.507	0.11893	0.4102:0.1569:0.433:0.0	.	495	P22888	LSHR_HUMAN	Y	433;495;468	ENSP00000344301:S433Y;ENSP00000294954:S495Y;ENSP00000386033:S468Y	.	S	-	2	0	LHCGR	48768956	0.018000	0.18449	0.050000	0.19076	0.180000	0.23129	2.204000	0.42761	0.377000	0.24735	-0.150000	0.13652	TCT	LHCGR	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000138039		0.438	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4		0	31	0	G	NM_000233.3		48915452	-1			no_errors	ENST00000294954	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.001	T	T	48915452	G	T	48915452	3	4	12	1	0	0	0	0	1	0	0	0	8791	942	33	3	619	3	LHCGR	2	48915452	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	8258198	48915452	194283921	52	3155											
CCDC85A	114800	genome.wustl.edu	37	chr2	56420200	56420200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacccttgtgcaagggcAgccccgaacagcaaaggcac	14	3	10	14	1	0	0	0	0	0	0	0	1	0	0	3	2	5	4	3	2	4	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:56420200A>G	ENST00000407595.2	+	2	1367	c.865A>G	c.(865-867)Agc>Ggc	p.S289G	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	289	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGCAAGGGCAGCCCCGAACA	0.632																																																	0													60	76	71					2																	56420200		2054	4193	6247	SO:0001583	missense	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.865A>G	2.37:g.56420200A>G	ENSP00000384040:p.Ser289Gly			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.S289G	ENST00000407595.2	37	c.865	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	A	11.61	1.690598	0.29962	.	.	ENSG00000055813	ENST00000407595	T	0.46451	0.87	5.35	4.21	0.49690	.	0.132116	0.64402	D	0.000002	T	0.27278	0.0669	L	0.28400	0.85	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.07908	-1.0748	10	0.20519	T	0.43	-32.1278	8.5259	0.33304	0.8196:0.0:0.1804:0.0	.	289	Q96PX6	CC85A_HUMAN	G	289	ENSP00000384040:S289G	ENSP00000384040:S289G	S	+	1	0	CCDC85A	56273704	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.504000	0.53347	2.028000	0.59812	0.482000	0.46254	AGC	CCDC85A	-	NULL	ENSG00000055813		0.632	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	-	0	77	0	A			56420200	1	tier1	-	no_errors	ENST00000407595	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	G	G	56420200	A	G	56420200	3	3	12	1	0	0	0	0	1	0	0	0	2866	188	7	4	871	4	CCDC85A	2	56420200	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	7504748	56420200	186779173	53	3156											
OTX1	5013	genome.wustl.edu	37	chr2	63283401	63283401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcaacttcaactcccccGactgtctggactataaggac	12	9	6	14	1	3	0	2	0	1	0	4	3	4	2	2	2	3	0	2	2	5	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:63283401G>A	ENST00000282549.2	+	5	1291	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N	OTX1_ENST00000366671.3_Missense_Mutation_p.D339N	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	339					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAACTCCCCCGACTGTCTGGA	0.577																																																	0													55	55	55					2																	63283401		2203	4300	6503	SO:0001583	missense	0				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.1015G>A	2.37:g.63283401G>A	ENSP00000282549:p.Asp339Asn		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF	p.D339N	ENST00000282549.2	37	c.1015	CCDS1873.1	2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604274	0.87157	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.94537	-3.45;-3.45	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.94751	0.8306	L	0.52126	1.63	0.58432	D	0.999999	D	0.71674	0.998	P	0.55303	0.773	D	0.95361	0.8455	10	0.87932	D	0	.	15.2352	0.73422	0.0:0.0:1.0:0.0	.	339	P32242	OTX1_HUMAN	N	339	ENSP00000355631:D339N;ENSP00000282549:D339N	ENSP00000282549:D339N	D	+	1	0	OTX1	63136905	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.551000	0.98112	2.179000	0.69175	0.561000	0.74099	GAC	OTX1	-	NULL	ENSG00000115507		0.577	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX1	HGNC	protein_coding	OTTHUMT00000251617.1	-	0	88	0	G			63283401	1	tier1	-	no_errors	ENST00000282549	ensembl	human	known	74_37	missense	11.11	64	8	SNP	1.000	A	A	63283401	G	A	63283401	3	1	12	1	0	0	0	0	1	0	0	0	11359	1058	37	1	1025	1	OTX1	2	63283401	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	6863201	63283401	179915972	54	3157											
SPRED2	200734	genome.wustl.edu	37	chr2	65540839	65540839	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggtccgacatacagtgAtagagcatgctgtccgcgca	9	8	13	11	4	0	2	0	1	0	1	3	3	2	2	2	2	3	3	2	2	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:65540839A>T	ENST00000356388.4	-	6	1242	c.1053T>A	c.(1051-1053)taT>taA	p.Y351*	SPRED2_ENST00000443619.2_Nonsense_Mutation_p.Y348*	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	351	SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ACATACAGTGATAGAGCATGC	0.602																																																	0													94	89	91					2																	65540839		2203	4300	6503	SO:0001587	stop_gained	0			AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.1053T>A	2.37:g.65540839A>T	ENSP00000348753:p.Tyr351*		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Nonsense_Mutation	SNP	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.Y351*	ENST00000356388.4	37	c.1053	CCDS33211.1	2	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692717	0.68271	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	.	.	.	5.75	-3.1	0.05315	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1819	12.5102	0.56002	0.5184:0.0:0.4816:0.0	.	.	.	.	X	351;348;366;233	.	ENSP00000348753:Y351X	Y	-	3	2	SPRED2	65394343	0.998000	0.40836	0.996000	0.52242	0.996000	0.88848	0.650000	0.24858	-0.240000	0.09696	-0.242000	0.12053	TAT	SPRED2	-	pfam_Sprouty	ENSG00000198369		0.602	SPRED2-001	KNOWN	basic|CCDS	protein_coding	SPRED2	HGNC	protein_coding	OTTHUMT00000327632.1	-	0	81	0	A			65540839	-1	tier1	-	no_errors	ENST00000356388	ensembl	human	known	74_37	nonsense	14.04	49	8	SNP	0.993	T	T	65540839	A	T	65540839	4	4	12	1	0	0	0	0	0	1	0	0	15140	340	12	5	207	5	SPRED2	2	65540839	Nonsense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2257438	65540839	177658534	55	3158											
MEIS1	4211	genome.wustl.edu	37	chr2	66691293	66691293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctactcgttcaggaggaaCcccaggcccttccagcggtg	8	8	11	14	2	2	0	1	0	1	0	4	2	3	2	4	4	3	1	4	4	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:66691293C>A	ENST00000272369.9	+	7	1140	c.683C>A	c.(682-684)aCc>aAc	p.T228N	MEIS1_ENST00000444274.2_Missense_Mutation_p.T196N|MEIS1_ENST00000398506.2_Missense_Mutation_p.T226N|MEIS1_ENST00000560281.2_Missense_Mutation_p.T228N|MEIS1_ENST00000488550.1_Missense_Mutation_p.T228N|MEIS1_ENST00000407092.2_Missense_Mutation_p.T228N|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000495021.2_Missense_Mutation_p.T163N	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	228	Ser/Thr-rich.				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCAGGAGGAACCCCAGGCCCT	0.507																																																	0													51	54	53					2																	66691293		1972	4184	6156	SO:0001583	missense	0				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.683C>A	2.37:g.66691293C>A	ENSP00000272369:p.Thr228Asn		A8MV50	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T228N	ENST00000272369.9	37	c.683	CCDS46309.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.41|14.41	2.527273|2.527273	0.44969|0.44969	.|.	.|.	ENSG00000143995|ENSG00000143995	ENST00000409517|ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000437869	D|D;D;D;T;D;T	0.91945|0.86627	-2.94|-2.15;-1.93;-1.92;1.33;-2.15;0.75	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93654|0.93654	0.7973|0.7973	M|M	0.77313|0.77313	2.365|2.365	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D;P;D	.|0.89917	.|0.46;1.0;0.945;1.0	.|P;D;P;D	.|0.91635	.|0.45;0.999;0.552;0.999	D|D	0.92541|0.92541	0.6042|0.6042	7|10	0.54805|0.41790	T|T	0.06|0.15	.|.	19.8155|19.8155	0.96566|0.96566	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|163;226;228;228	.|F5GYS8;O00470-2;O00470;F8W8U3	.|.;.;MEIS1_HUMAN;.	T|N	27|228;228;226;196;163;48;84;84	ENSP00000386708:P27T|ENSP00000272369:T228N;ENSP00000384461:T228N;ENSP00000381518:T226N;ENSP00000403206:T196N;ENSP00000440571:T163N;ENSP00000397418:T84N	ENSP00000386708:P27T|ENSP00000272369:T228N	P|T	+|+	1|2	0|0	MEIS1|MEIS1	66544797|66544797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.786000|7.786000	0.85741|0.85741	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	CCC|ACC	MEIS1	-	NULL	ENSG00000143995		0.507	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	-	0	61	0	C	NM_002398		66691293	1	tier1	-	no_errors	ENST00000407092	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	A	A	66691293	C	A	66691293	3	1	12	1	0	0	0	0	1	0	0	0	9505	507	18	3	709	3	MEIS1	2	66691293	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1150454	66691293	176508080	56	3159											
CYP26B1	56603	genome.wustl.edu	37	chr2	72359392	72359392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggcctccgtctccggCaggatctcgttctggttgga	5	11	13	12	3	3	0	0	0	3	0	6	2	4	2	3	5	1	4	3	5	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:72359392C>T	ENST00000001146.2	-	6	1706	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	CYP26B1_ENST00000412253.1_Silent_p.L310L|CYP26B1_ENST00000546307.1_Silent_p.L426L	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	501					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCGTCTCCGGCAGGATCTCGT	0.647																																																	0													38	33	35					2																	72359392		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"Cytochrome P450s"	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.1503G>A	2.37:g.72359392C>T			B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450	p.L501	ENST00000001146.2	37	c.1503	CCDS1919.1	2																																																																																			CYP26B1	-	NULL	ENSG00000003137		0.647	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP26B1	HGNC	protein_coding	OTTHUMT00000251969.1	-	0	90	0	C	NM_019885		72359392	-1	tier1	-	no_errors	ENST00000001146	ensembl	human	known	74_37	silent	12.50	56	8	SNP	1.000	T	T	72359392	C	T	72359392	2	4	12	1	0	0	0	0	0	0	0	1	4165	697	25	3		3	CYP26B1	2	72359392	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5668099	72359392	170839981	57	3160											
ALMS1	7840	genome.wustl.edu	37	chr2	73836724	73836724	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaacttctggggagaaaAgttccctgggactgacacaa	14	8	10	9	0	2	2	1	1	1	1	3	4	3	3	1	3	1	1	1	3	5	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:73836724A>C	ENST00000264448.6	+	23	12600	c.12489A>C	c.(12487-12489)aaA>aaC	p.K4163N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K4121N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4163	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGGGGAGAAAAGTTCCCTGGG	0.423																																																	0													125	121	122					2																	73836724		1837	4074	5911	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12489A>C	2.37:g.73836724A>C	ENSP00000264448:p.Lys4163Asn		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.K4163N	ENST00000264448.6	37	c.12489	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241807	0.79912	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.09350	2.99;2.99	5.34	5.34	0.76211	.	0.064020	0.64402	D	0.000010	T	0.22627	0.0546	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.00655	-1.1624	10	0.87932	D	0	.	11.6236	0.51132	1.0:0.0:0.0:0.0	.	4121;4163	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	N	4121;4163	ENSP00000386627:K4121N;ENSP00000264448:K4163N	ENSP00000264448:K4163N	K	+	3	2	ALMS1	73690232	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.524000	0.60552	2.242000	0.73789	0.482000	0.46254	AAA	ALMS1	-	NULL	ENSG00000116127		0.423	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	54	0	A	NM_015120		73836724	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	C	C	73836724	A	C	73836724	3	2	12	1	0	0	0	0	1	0	0	0	535	69	3	4	12579	4	ALMS1	2	73836724	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1477332	73836724	169362649	58	3161											
STAMBP	10617	genome.wustl.edu	37	chr2	74058030	74058030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccgaagaccgggtgaGggctctctcccagctgggta	6	6	14	15	3	1	2	0	1	1	1	3	3	2	2	4	3	1	3	4	3	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:74058030G>A	ENST00000394070.2	+	2	550	c.47G>A	c.(46-48)aGg>aAg	p.R16K	STAMBP_ENST00000394073.1_Missense_Mutation_p.R16K|STAMBP_ENST00000536064.1_Missense_Mutation_p.R16K|STAMBP_ENST00000339566.3_Missense_Mutation_p.R16K|STAMBP_ENST00000409707.1_Missense_Mutation_p.R16K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	16	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GACCGGGTGAGGGCTCTCTCC	0.537																																																	0													71	68	69					2																	74058030		2203	4300	6503	SO:0001583	missense	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.47G>A	2.37:g.74058030G>A	ENSP00000377633:p.Arg16Lys		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.R16K	ENST00000394070.2	37	c.47	CCDS1929.1	2	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808045	0.50421	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.49139	1.84;1.84;1.78;1.84;1.84;0.79	4.86	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	L	0.39326	1.205	0.80722	D	1	P	0.48589	0.912	P	0.53549	0.729	T	0.37103	-0.9720	10	0.25751	T	0.34	-8.193	12.4693	0.55777	0.0826:0.0:0.9174:0.0	.	16	O95630	STABP_HUMAN	K	16	ENSP00000344742:R16K;ENSP00000386548:R16K;ENSP00000413874:R16K;ENSP00000377636:R16K;ENSP00000377633:R16K;ENSP00000443502:R16K	ENSP00000344742:R16K	R	+	2	0	STAMBP	73911538	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.240000	0.78192	1.418000	0.47098	-0.136000	0.14681	AGG	STAMBP	-	NULL	ENSG00000124356		0.537	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	-	0	52	0	G	NM_006463		74058030	1	tier1	-	no_errors	ENST00000339566	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	A	A	74058030	G	A	74058030	3	1	12	1	0	0	0	0	1	0	0	0	15297	1000	35	3	49	3	STAMBP	2	74058030	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	221306	74058030	169141343	59	3162											
TSGA10	80705	genome.wustl.edu	37	chr2	99636828	99636828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctatctgagactgatattCtttgtctcgattggccacca	8	15	8	10	1	3	2	0	2	3	1	4	4	3	2	2	1	1	1	2	1	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:99636828C>G	ENST00000393483.3	-	18	2576	c.1732G>C	c.(1732-1734)Gaa>Caa	p.E578Q	TSGA10_ENST00000355053.4_Missense_Mutation_p.E578Q|TSGA10_ENST00000539964.1_Missense_Mutation_p.E578Q|TSGA10_ENST00000410001.1_Missense_Mutation_p.E578Q	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	578	Interaction with HIF1A. {ECO:0000250}.				cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GACTGATATTCTTTGTCTCGA	0.383																																																	0													89	89	89					2																	99636828		2203	4300	6503	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1732G>C	2.37:g.99636828C>G	ENSP00000377123:p.Glu578Gln		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.E578Q	ENST00000393483.3	37	c.1732	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611542	0.87258	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482	T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.40719	0.1128	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01920	-1.1247	10	0.36615	T	0.2	-16.0512	18.3342	0.90282	0.0:1.0:0.0:0.0	.	578	Q9BZW7	TSG10_HUMAN	Q	578;578;578;578;508;578	ENSP00000377123:E578Q;ENSP00000386956:E578Q;ENSP00000347161:E578Q;ENSP00000444419:E578Q;ENSP00000386508:E508Q;ENSP00000377122:E578Q	ENSP00000347161:E578Q	E	-	1	0	TSGA10	99003260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.011000	0.57124	2.805000	0.96524	0.650000	0.86243	GAA	TSGA10	-	NULL	ENSG00000135951		0.383	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	40	0	C	NM_182911		99636828	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	G	G	99636828	C	G	99636828	3	3	12	1	0	0	0	0	1	0	0	0	16665	922	32	5	380	5	TSGA10	2	99636828	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	25578798	99636828	143562545	60	3163											
MAP4K4	9448	genome.wustl.edu	37	chr2	102460651	102460651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacgttccgaggctcttCggagacaacagttactacag	12	8	11	10	3	1	1	0	0	1	1	3	4	2	2	1	3	4	3	1	3	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:102460651C>T	ENST00000347699.4	+	12	1111	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	MAP4K4_ENST00000350198.4_Missense_Mutation_p.R371W|MAP4K4_ENST00000350878.4_Missense_Mutation_p.R351W|MAP4K4_ENST00000302217.5_Missense_Mutation_p.R224W|MAP4K4_ENST00000324219.4_Missense_Mutation_p.R371W|MAP4K4_ENST00000413150.2_Missense_Mutation_p.R371W|MAP4K4_ENST00000456652.1_Missense_Mutation_p.R224W|MAP4K4_ENST00000425019.1_Missense_Mutation_p.R371W	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	371					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGAGGCTCTTCGGAGACAACA	0.502																																																	0													53	50	51					2																	102460651		1932	4145	6077	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1111C>T	2.37:g.102460651C>T	ENSP00000314363:p.Arg371Trp		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.R371W	ENST00000347699.4	37	c.1111	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.159255|4.159255	0.78226|0.78226	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.75938|.	0.94;-0.85;0.7;4.19;0.7;4.19;-0.84;-0.98;-0.82|.	5.96|5.96	5.07|5.07	0.68467|0.68467	.|.	0.066931|.	0.64402|.	D|.	0.000016|.	T|T	0.72771|0.72771	0.3502|0.3502	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.79108|.	0.988;0.982;0.988;0.982;0.992;0.982;0.988;0.992;0.992;0.992|.	T|T	0.72609|0.72609	-0.4241|-0.4241	10|5	0.35671|.	T|.	0.21|.	.|.	16.3102|16.3102	0.82865|0.82865	0.1386:0.8614:0.0:0.0|0.1386:0.8614:0.0:0.0	.|.	351;371;351;224;371;371;371;371;371;371|.	B7Z388;B7Z3V5;E7ESS2;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	W|L	371;371;371;224;371;224;371;333;351|110	ENSP00000392830:R371W;ENSP00000313644:R371W;ENSP00000281111:R371W;ENSP00000303600:R224W;ENSP00000389752:R371W;ENSP00000387370:R224W;ENSP00000314363:R371W;ENSP00000409720:R333W;ENSP00000343658:R351W|.	ENSP00000303600:R224W|.	R|S	+|+	1|2	2|0	MAP4K4|MAP4K4	101827083|101827083	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.971000|4.971000	0.63749|0.63749	1.485000|1.485000	0.48380|0.48380	0.655000|0.655000	0.94253|0.94253	CGG|TCG	MAP4K4	-	NULL	ENSG00000071054		0.502	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	-	0	35	0	C	NM_004834		102460651	1	tier1	-	no_errors	ENST00000324219	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	T	T	102460651	C	T	102460651	3	4	12	1	0	0	0	0	1	0	0	0	9300	875	31	1	1157	1	MAP4K4	2	102460651	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2823823	102460651	140738722	61	3164											
PTPN4	5775	genome.wustl.edu	37	chr2	120704130	120704130	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgcctgtgattgtgtctCgagtagcaccaggaacacct	10	10	11	10	1	1	2	0	1	1	1	2	4	1	3	3	1	3	2	3	1	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:120704130C>T	ENST00000263708.2	+	18	2407	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	PTPN4_ENST00000544261.1_Nonsense_Mutation_p.R179*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	546	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATTGTGTCTCGAGTAGCACC	0.279																																																	0													101	99	100					2																	120704130		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1636C>T	2.37:g.120704130C>T	ENSP00000263708:p.Arg546*		B2RBV8|Q9UDA7	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R546*	ENST00000263708.2	37	c.1636	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434706	0.83885	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	.	.	.	4.94	4.0	0.46444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1242	0.48308	0.3668:0.6332:0.0:0.0	.	.	.	.	X	546;179;172	.	ENSP00000263708:R546X	R	+	1	2	PTPN4	120420600	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	2.099000	0.41767	2.421000	0.82119	0.591000	0.81541	CGA	PTPN4	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_PDZ	ENSG00000088179		0.279	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	-	0	70	0	C			120704130	1	tier1	-	no_errors	ENST00000263708	ensembl	human	known	74_37	nonsense	34.67	49	26	SNP	1.000	T	T	120704130	C	T	120704130	4	4	12	1	0	0	0	0	0	1	0	0	12835	876	31	1	1702	1	PTPN4	2	120704130	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	18243479	120704130	122495243	62	3165											
LRP1B	53353	genome.wustl.edu	37	chr2	141004675	141004675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgctgatatgatcagacTtgctgctctttggggctggc	5	15	13	8	0	2	3	1	2	1	1	2	3	2	3	0	3	3	4	0	3	1	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:141004675T>C	ENST00000389484.3	-	87	14275	c.13304A>G	c.(13303-13305)aAg>aGg	p.K4435R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4435					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGATCAGACTTGCTGCTCTT	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													108	101	103					2																	141004675		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13304A>G	2.37:g.141004675T>C	ENSP00000374135:p.Lys4435Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K4435R	ENST00000389484.3	37	c.13304	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.20|13.20	2.165013|2.165013	0.38217|0.38217	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90069|.	-2.61|.	5.8|5.8	4.58|4.58	0.56647|0.56647	.|.	0.064530|.	0.56097|.	D|.	0.000026|.	T|T	0.30293|0.30293	0.0760|0.0760	N|N	0.14661|0.14661	0.345|0.345	0.26106|0.26106	N|N	0.980757|0.980757	B|.	0.15141|.	0.012|.	B|.	0.11329|.	0.006|.	T|T	0.16630|0.16630	-1.0396|-1.0396	10|5	0.19147|.	T|.	0.46|.	.|.	12.6793|12.6793	0.56912|0.56912	0.0:0.0:0.1375:0.8625|0.0:0.0:0.1375:0.8625	.|.	4435|.	Q9NZR2|.	LRP1B_HUMAN|.	R|G	4435;4373|667;205	ENSP00000374135:K4435R|.	ENSP00000374135:K4435R|.	K|S	-|-	2|1	0|0	LRP1B|LRP1B	140721145|140721145	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.976000|3.976000	0.56867|0.56867	2.213000|2.213000	0.71641|0.71641	0.528000|0.528000	0.53228|0.53228	AAG|AGT	LRP1B	-	NULL	ENSG00000168702		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	36	0	T	NM_018557		141004675	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	41.67	21	15	SNP	0.998	C	C	141004675	T	C	141004675	3	2	12	1	0	0	0	0	1	0	0	0	8990	1609	56	4	515	4	LRP1B	2	141004675	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	20300545	141004675	102194698	63	3166											
LRP1B	53353	genome.wustl.edu	37	chr2	141031998	141031998	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtgtccacttacttgcaAaatatatcttcactgtcttt	9	17	6	9	0	3	0	1	0	2	0	4	0	4	0	1	1	2	1	1	1	5	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:141031998A>C	ENST00000389484.3	-	85	14108	c.13137T>G	c.(13135-13137)ttT>ttG	p.F4379L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4379	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACTTGCAAAATATATCTT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													94	88	90					2																	141031998		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13137T>G	2.37:g.141031998A>C	ENSP00000374135:p.Phe4379Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.F4379L	ENST00000389484.3	37	c.13137	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.15|11.15	1.553146|1.553146	0.27739|0.27739	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977;ENST00000442974|ENST00000389484;ENST00000544579	T;T|D	0.09350|0.89552	2.99;2.99|-2.53	5.32|5.32	2.77|2.77	0.32553|0.32553	.|.	0.817763|0.817763	0.10225|0.10225	U|N	0.700409|0.700409	T|T	0.74374|0.74374	0.3708|0.3708	N|N	0.11724|0.11724	0.165|0.165	0.25544|0.25544	N|N	0.987152|0.987152	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.60737|0.60737	-0.7204|-0.7204	8|10	0.49607|0.10902	T|T	0.09|0.67	.|.	5.0881|5.0881	0.14693|0.14693	0.3989:0.3592:0.0:0.242|0.3989:0.3592:0.0:0.242	.|.	.|4379	.|Q9NZR2	.|LRP1B_HUMAN	C|L	611;111|4379;4317	ENSP00000415052:F611C;ENSP00000393859:F111C|ENSP00000374135:F4379L	ENSP00000415052:F611C|ENSP00000374135:F4379L	F|F	-|-	2|3	0|2	LRP1B|LRP1B	140748468|140748468	0.013000|0.013000	0.17824|0.17824	0.996000|0.996000	0.52242|0.52242	0.911000|0.911000	0.54048|0.54048	0.206000|0.206000	0.17375|0.17375	2.011000|2.011000	0.59026|0.59026	0.533000|0.533000	0.62120|0.62120	TTT|TTT	LRP1B	-	smart_EG-like_dom	ENSG00000168702		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	80	0	A	NM_018557		141031998	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.955	C	C	141031998	A	C	141031998	3	2	12	1	0	0	0	0	1	0	0	0	8990	11	1	4	690	4	LRP1B	2	141031998	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	27323	141031998	102167375	64	3167											
LRP1B	53353	genome.wustl.edu	37	chr2	141459350	141459350	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgactccaaggccggttcTcatggttatcgtttctgtgg	5	15	12	9	2	2	1	1	1	2	0	5	1	3	1	2	4	0	4	2	4	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:141459350T>A	ENST00000389484.3	-	40	7338	c.6367A>T	c.(6367-6369)Aga>Tga	p.R2123*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2123					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCCGGTTCTCATGGTTATC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													166	152	157					2																	141459350		2203	4300	6503	SO:0001587	stop_gained	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6367A>T	2.37:g.141459350T>A	ENSP00000374135:p.Arg2123*		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R2123*	ENST00000389484.3	37	c.6367	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	52	20.016468	0.99926	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.11	2.48	0.30137	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	11.7344	0.51757	0.0:0.0:0.2555:0.7445	.	.	.	.	X	2123;2061	.	ENSP00000374135:R2123X	R	-	1	2	LRP1B	141175820	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.013000	0.64023	1.912000	0.55364	0.383000	0.25322	AGA	LRP1B	-	NULL	ENSG00000168702		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	47	0	T	NM_018557		141459350	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	nonsense	34.78	30	16	SNP	1.000	A	A	141459350	T	A	141459350	4	1	12	1	0	0	0	0	0	1	0	0	8990	1559	54	5	7640	5	LRP1B	2	141459350	Nonsense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	427352	141459350	101740023	65	3168											
LRP1B	53353	genome.wustl.edu	37	chr2	141812823	141812823	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgacttcacatgcatggcTtctgactacaacaaataaaa	16	10	5	10	1	2	1	1	1	1	0	3	2	2	1	0	1	3	2	0	1	5	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:141812823T>G	ENST00000389484.3	-	10	2385	c.1414A>C	c.(1414-1416)Agc>Cgc	p.S472R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	472	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGCATGGCTTCTGACTACA	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													82	74	77					2																	141812823		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1414A>C	2.37:g.141812823T>G	ENSP00000374135:p.Ser472Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S472R	ENST00000389484.3	37	c.1414	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	18.83	3.708085	0.68615	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97598	-4.45	5.45	3.12	0.35913	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.057764	0.64402	U	0.000002	D	0.94518	0.8235	L	0.47716	1.5	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	D	0.91944	0.5565	10	0.38643	T	0.18	.	9.2197	0.37368	0.0:0.1465:0.0:0.8535	.	472	Q9NZR2	LRP1B_HUMAN	R	472;410	ENSP00000374135:S472R	ENSP00000374135:S472R	S	-	1	0	LRP1B	141529293	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.967000	0.49216	0.921000	0.36994	0.455000	0.32223	AGC	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	39	0	T	NM_018557		141812823	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	G	G	141812823	T	G	141812823	3	3	12	1	0	0	0	0	1	0	0	0	8990	1609	56	4	12713	4	LRP1B	2	141812823	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	353473	141812823	101386550	66	3169											
LY75	4065	genome.wustl.edu	37	chr2	160663488	160663488	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttccatacttacccagAggcactttgcagacaactct	11	10	7	13	0	1	2	0	0	1	2	2	2	2	2	2	2	4	3	2	2	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:160663488A>T	ENST00000263636.4	-	34	5013	c.4986T>A	c.(4984-4986)ccT>ccA	p.P1662P	LY75-CD302_ENST00000504764.1_Silent_p.P1662P|LY75_ENST00000554112.1_Silent_p.P1662P|LY75_ENST00000553424.1_Intron|LY75-CD302_ENST00000505052.1_Intron	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1662					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTACCCAGAGGCACTTTGC	0.368																																																	0													131	123	126					2																	160663488		2203	4300	6503	SO:0001819	synonymous_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4986T>A	2.37:g.160663488A>T			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.P1662	ENST00000263636.4	37	c.4986	CCDS2211.1	2																																																																																			LY75	-	superfamily_C-type_lectin_fold	ENSG00000054219		0.368	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	55	0	A			160663488	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.556	T	T	160663488	A	T	160663488	2	4	12	1	0	0	0	0	0	0	0	1	9135	291	11	5		5	LY75	2	160663488	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	18850665	160663488	82535885	67	3170											
ITGB6	3694	genome.wustl.edu	37	chr2	161051888	161051888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatttacttacctgcaaggGttggcaatttcttctggtgt	7	17	9	8	0	3	0	1	0	2	0	3	0	3	0	1	3	3	3	1	3	4	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:161051888G>T	ENST00000283249.2	-	4	822	c.585C>A	c.(583-585)aaC>aaA	p.N195K	ITGB6_ENST00000428609.2_Missense_Mutation_p.N153K|ITGB6_ENST00000409872.1_Missense_Mutation_p.N195K|ITGB6_ENST00000409967.2_Missense_Mutation_p.N195K|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	195	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACCTGCAAGGGTTGGCAATTT	0.443																																																	0													93	99	97					2																	161051888		2203	4300	6503	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.585C>A	2.37:g.161051888G>T	ENSP00000283249:p.Asn195Lys		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.N195K	ENST00000283249.2	37	c.585	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678628	0.68042	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66	6.05	5.17	0.71159	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97548	0.9197	M	0.78285	2.405	0.58432	D	0.999997	D;D	0.57899	0.981;0.981	P;P	0.50440	0.641;0.641	D	0.97226	0.9881	10	0.59425	D	0.04	.	12.0675	0.53596	0.1371:0.0:0.8629:0.0	.	153;195	E9PEE8;P18564	.;ITB6_HUMAN	K	195;153;195;195	ENSP00000283249:N195K;ENSP00000408024:N153K;ENSP00000386828:N195K;ENSP00000386367:N195K	ENSP00000283249:N195K	N	-	3	2	ITGB6	160760134	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.261000	0.32980	1.565000	0.49641	0.650000	0.86243	AAC	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000115221		0.443	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	-	0	54	0	G	NM_000888		161051888	-1	tier1	-	no_errors	ENST00000283249	ensembl	human	known	74_37	missense	12.96	47	7	SNP	1.000	T	T	161051888	G	T	161051888	3	4	12	1	0	0	0	0	1	0	0	0	7926	1252	44	3	1829	3	ITGB6	2	161051888	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	388400	161051888	82147485	68	3171											
PSMD14	10213	genome.wustl.edu	37	chr2	162267813	162267813	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcatttttgttcttttagGaccccaaacgtcatttggag	8	16	7	10	1	3	0	2	0	1	0	3	2	3	2	3	2	1	1	3	2	2	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:162267813G>A	ENST00000409682.3	+	12	1539	c.835G>A	c.(835-837)Gac>Aac	p.D279N	5S_rRNA_ENST00000605921.1_RNA	NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						GTTCTTTTAGGACCCCAAACG	0.333																																																	0													116	105	109					2																	162267813		1837	4080	5917	SO:0001630	splice_region_variant	0			U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"Proteasome (prosome, macropain) subunits"	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.835-1G>A	2.37:g.162267813G>A			B3KNW2|O00176	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.D279N	ENST00000409682.3	37	c.835	CCDS46437.1	2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261398	0.80358	.	.	ENSG00000115233	ENST00000409682	.	.	.	5.32	5.32	0.75619	.	0.140285	0.64402	D	0.000007	T	0.71426	0.3338	M	0.65498	2.005	0.80722	D	1	P	0.36125	0.538	P	0.46975	0.533	T	0.68727	-0.5332	8	.	.	.	.	18.9963	0.92813	0.0:0.0:1.0:0.0	.	279	O00487	PSDE_HUMAN	N	279	.	.	D	+	1	0	PSMD14	161976059	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.727000	0.98787	2.504000	0.84457	0.591000	0.81541	GAC	PSMD14	-	NULL	ENSG00000115233		0.333	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD14	HGNC	protein_coding	OTTHUMT00000332833.1	-	0	58	0	G	NM_005805	Missense_Mutation	162267813	1	tier1	-	no_errors	ENST00000409682	ensembl	human	known	74_37	missense	8.82	62	6	SNP	1.000	A	A	162267813	G	A	162267813	5	1	12	1	0	0	0	0	0	0	1	0	12739	1188	41	3	873	3	PSMD14	2	162267813	Splice_Site	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1215925	162267813	80931560	69	3172											
FIGN	55137	genome.wustl.edu	37	chr2	164467533	164467533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaggtacgctgaaggcGgaggcggtgcccccccaggg	8	3	18	12	3	0	1	0	1	0	0	0	2	0	2	3	7	2	3	3	7	3	1	rs576789489		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:164467533G>A	ENST00000333129.3	-	3	1123	c.809C>T	c.(808-810)cCg>cTg	p.P270L	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	270	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGCTGAAGGCGGAGGCGGTGC	0.592													G|||	1	0.000199681	0	0	5008	,	,		13847	0		0.001	False		,,,				2504	0																0													36	40	39					2																	164467533		2014	4164	6178	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.809C>T	2.37:g.164467533G>A	ENSP00000333836:p.Pro270Leu		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P270L	ENST00000333129.3	37	c.809	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304192	0.23736	.	.	ENSG00000182263	ENST00000333129	T	0.50813	0.73	6.07	6.07	0.98685	.	0.202893	0.43110	D	0.000601	T	0.67979	0.2951	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65183	-0.6230	10	0.54805	T	0.06	-14.0811	20.6512	0.99593	0.0:0.0:1.0:0.0	.	270	Q5HY92	FIGN_HUMAN	L	270	ENSP00000333836:P270L	ENSP00000333836:P270L	P	-	2	0	FIGN	164175779	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.744000	0.85034	2.882000	0.98803	0.655000	0.94253	CCG	FIGN	-	NULL	ENSG00000182263		0.592	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	38	0	G	NM_018086		164467533	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	164467533	G	A	164467533	3	1	12	1	0	0	0	0	1	0	0	0	5913	1116	39	1	1474	1	FIGN	2	164467533	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	2199720	164467533	78731840	70	3173											
SCN9A	6335	genome.wustl.edu	37	chr2	167159806	167159806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaagcccctacaattgtcTtcaggcctgaaaatgggaga	13	9	9	10	0	3	2	2	1	1	1	3	3	3	2	3	2	2	0	3	2	5	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:167159806T>G	ENST00000409435.1	-	6	694	c.695A>C	c.(694-696)aAg>aCg	p.K232T	SCN9A_ENST00000303354.6_Missense_Mutation_p.K233T|SCN9A_ENST00000409672.1_Missense_Mutation_p.K232T|SCN9A_ENST00000375387.4_Missense_Mutation_p.K233T|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	232					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACAATTGTCTTCAGGCCTGA	0.393																																																	0													70	69	69					2																	167159806		2195	4299	6494	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.695A>C	2.37:g.167159806T>G	ENSP00000386330:p.Lys232Thr		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.K233T	ENST00000409435.1	37	c.698	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870220	0.91587	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99498	0.9821	H	0.97516	4.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.985	D	0.98117	1.0423	10	0.87932	D	0	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	232;232;233	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	232;233;233;232;97;97	ENSP00000386306:K232T;ENSP00000364536:K233T;ENSP00000304748:K233T;ENSP00000386330:K232T;ENSP00000413212:K97T;ENSP00000393141:K97T	ENSP00000304748:K233T	K	-	2	0	SCN9A	166868052	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	AAG	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.393	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1		0	44	0	T	NM_002977		167159806	-1			no_errors	ENST00000303354	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	G	G	167159806	T	G	167159806	3	3	12	1	0	0	0	0	1	0	0	0	13970	1609	56	4	5322	4	SCN9A	2	167159806	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2692273	167159806	76039567	71	3174											
XIRP2	129446	genome.wustl.edu	37	chr2	168115371	168115371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgaatctgaaaagacttattCgaggaatgtactagcaatgg	15	11	10	5	1	1	3	0	2	1	1	2	5	1	4	0	2	2	2	0	2	8	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:168115371C>G	ENST00000409728.1	+	11	2503	c.2414C>G	c.(2413-2415)tCg>tGg	p.S805W	XIRP2_ENST00000420519.1_Missense_Mutation_p.S805W|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.S550W|XIRP2_ENST00000409043.1_Missense_Mutation_p.S772W|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.S772W|XIRP2_ENST00000295237.9_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	94					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S805L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGACTTATTCGAGGAATGTA	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											41	40	41					2																	168115371		1839	4092	5931	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2414C>G	2.37:g.168115371C>G	ENSP00000386619:p.Ser805Trp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S805W	ENST00000409728.1	37	c.2414	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	C	9.775	1.173802	0.21704	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	D;D;D;D;D	0.85629	-1.91;-1.9;-1.91;-1.9;-2.01	5.67	4.8	0.61643	.	.	.	.	.	D	0.91747	0.7390	.	.	.	0.36047	D	0.840506	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	D	0.94689	0.7872	8	0.87932	D	0	.	12.7213	0.57144	0.0:0.9241:0.0:0.0759	.	772;805	A4UGR9-4;A4UGR9-6	.;.	W	772;805;772;805;550	ENSP00000386454:S772W;ENSP00000386619:S805W;ENSP00000386724:S772W;ENSP00000415541:S805W;ENSP00000386981:S550W	ENSP00000386454:S772W	S	+	2	0	XIRP2	167823617	0.012000	0.17670	0.008000	0.14137	0.111000	0.19643	1.835000	0.39181	1.408000	0.46895	0.561000	0.74099	TCG	XIRP2	-	NULL	ENSG00000163092		0.418	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	24	0	C	NM_152381		168115371	1	tier1	-	no_errors	ENST00000420519	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.061	G	G	168115371	C	G	168115371	3	3	12	1	0	0	0	0	1	0	0	0	17479	893	31	5	11732	5	XIRP2	2	168115371	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	955565	168115371	75084002	72	3175											
UBR3	130507	genome.wustl.edu	37	chr2	170753079	170753079	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaacactgaagaaaagTcatgaatcagacacaatgtc	20	7	7	7	0	2	5	2	3	0	2	3	5	2	5	0	0	1	0	0	0	7	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:170753079T>A	ENST00000272793.5	+	8	1349	c.1299T>A	c.(1297-1299)agT>agA	p.S433R	UBR3_ENST00000418381.1_Missense_Mutation_p.S433R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	433					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGAAGAAAAGTCATGAATCAG	0.343																																																	0													130	106	113					2																	170753079		692	1591	2283	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.1299T>A	2.37:g.170753079T>A	ENSP00000272793:p.Ser433Arg		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S433R	ENST00000272793.5	37	c.1299		2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099649	0.76983	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.31510	1.49;1.49	5.43	1.84	0.25277	.	.	.	.	.	T	0.46870	0.1415	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.33599	-0.9862	9	0.54805	T	0.06	.	6.8206	0.23855	0.0:0.4838:0.0:0.5162	.	433	Q6ZT12	UBR3_HUMAN	R	433	ENSP00000272793:S433R;ENSP00000396068:S433R	ENSP00000272793:S433R	S	+	3	2	UBR3	170461325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.171000	0.50824	0.381000	0.24851	0.482000	0.46254	AGT	UBR3	-	NULL	ENSG00000144357		0.343	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	-	0	80	0	T	NM_172070		170753079	1	tier1	-	no_errors	ENST00000272793	ensembl	human	known	74_37	missense	11.43	62	8	SNP	1.000	A	A	170753079	T	A	170753079	3	1	12	1	0	0	0	0	1	0	0	0	16952	1664	58	5	1329	5	UBR3	2	170753079	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2637708	170753079	72446294	73	3176											
AGPS	8540	genome.wustl.edu	37	chr2	178378595	178378595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagaataacaagggaatgCaaagagaagggtgttcagtt	18	7	13	3	0	1	2	1	0	0	2	1	5	1	3	0	2	2	3	0	2	7	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:178378595C>T	ENST00000264167.4	+	17	1802	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	552					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CAAGGGAATGCAAAGAGAAGG	0.284																																																	0													119	123	121					2																	178378595		2203	4299	6502	SO:0001819	synonymous_variant	0			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1656C>T	2.37:g.178378595C>T			A5D8U9|Q2TU35	Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.C552	ENST00000264167.4	37	c.1656	CCDS2275.1	2																																																																																			AGPS	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C	ENSG00000018510		0.284	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2		0	45	0	C			178378595	1			no_errors	ENST00000264167	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	T	T	178378595	C	T	178378595	2	4	12	1	0	0	0	0	0	0	0	1	394	718	25	3		3	AGPS	2	178378595	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	7625516	178378595	64820778	74	3177											
TTN	7273	genome.wustl.edu	37	chr2	179440283	179440283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttcagaggcttttacggGctctgtagtttctgttggct	4	17	12	8	1	3	1	1	0	2	1	3	1	3	1	0	3	2	7	0	3	2	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:179440283G>A	ENST00000591111.1	-	276	65877	c.65653C>T	c.(65653-65655)Ccc>Tcc	p.P21885S	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P14461S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P14586S|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P14653S|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20958S|TTN_ENST00000589042.1_Missense_Mutation_p.P23526S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21885	Fibronectin type-III 58. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTTACGGGCTCTGTAGTT	0.468																																																	0													234	231	232					2																	179440283		1981	4166	6147	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65653C>T	2.37:g.179440283G>A	ENSP00000465570:p.Pro21885Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P20958S	ENST00000591111.1	37	c.62872		2	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912878	0.33815	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.6	5.6	0.85130	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66954	0.2842	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.68127	-0.5491	9	0.87932	D	0	.	19.612	0.95610	0.0:0.0:1.0:0.0	.	14461;14586;14653;21885	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	20958;14461;14653;14586;14459	ENSP00000343764:P20958S;ENSP00000434586:P14461S;ENSP00000340554:P14653S;ENSP00000352154:P14586S	ENSP00000340554:P14653S	P	-	1	0	TTN	179148529	1.000000	0.71417	0.918000	0.36340	0.636000	0.38137	9.869000	0.99810	2.651000	0.90000	0.585000	0.79938	CCC	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	42	0	G	NM_133378		179440283	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	179440283	G	A	179440283	3	1	12	1	0	0	0	0	1	0	0	0	16784	1203	42	3	37551	3	TTN	2	179440283	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1061688	179440283	63759090	75	3178											
TTN	7273	genome.wustl.edu	37	chr2	179506042	179506042	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaggtctttttcttagaActttaaagacaaaaaggttt	13	16	6	6	0	3	2	1	0	2	2	3	2	3	2	0	2	1	1	0	2	6	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:179506042A>C	ENST00000591111.1	-	170	35860	c.35636T>G	c.(35635-35637)gTt>gGt	p.V11879G	TTN_ENST00000460472.2_Splice_Site_p.V4455G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V4580G|TTN_ENST00000342175.6_Splice_Site_p.V4647G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.V10952G|TTN_ENST00000589042.1_Splice_Site_p.V13520G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11879	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTTAGAACTTTAAAGAC	0.299																																																	0													70	62	64					2																	179506042		1747	3958	5705	SO:0001630	splice_region_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35636-1T>G	2.37:g.179506042A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V10952G	ENST00000591111.1	37	c.32855		2	.	.	.	.	.	.	.	.	.	.	A	15.07	2.724485	0.48728	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766	T;T;T;T	0.68765	-0.35;0.17;0.14;0.14	5.82	5.82	0.92795	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76716	0.4026	L	0.43923	1.385	0.54753	D	0.999981	D;D;D;D;D	0.89917	0.998;0.998;0.998;0.998;1.0	D;D;D;D;D	0.87578	0.987;0.987;0.987;0.987;0.998	T	0.78922	-0.2013	9	0.87932	D	0	.	15.3553	0.74423	1.0:0.0:0.0:0.0	.	4455;4580;4647;11879;10646	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5	.;.;.;TITIN_HUMAN;.	G	10952;4455;4647;4580;4455;841	ENSP00000343764:V10952G;ENSP00000434586:V4455G;ENSP00000340554:V4647G;ENSP00000352154:V4580G	ENSP00000340554:V4647G	V	-	2	0	TTN	179214287	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.337000	0.59310	2.223000	0.72356	0.482000	0.46254	GTT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.299	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	46	0	A	NM_133378	Missense_Mutation	179506042	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	C	C	179506042	A	C	179506042	5	2	12	1	0	0	0	0	0	0	1	0	16784	57	2	4	67706	4	TTN	2	179506042	Splice_Site	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	65759	179506042	63693331	76	3179											
TTN	7273	genome.wustl.edu	37	chr2	179614100	179614100	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcttgctgatttttatggTtcttgaagcaccatgcacaa	9	14	10	8	0	1	2	0	2	1	0	1	2	1	2	1	2	3	5	1	2	3	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:179614100T>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.T4343A			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTTATGGTTCTTGAAGCA	0.423																																																	0													91	98	96					2																	179614100		2203	4296	6499	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3750A>G	2.37:g.179614100T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T4343A	ENST00000591111.1	37	c.13027		2	.	.	.	.	.	.	.	.	.	.	T	12.70	2.015980	0.35606	.	.	ENSG00000155657	ENST00000360870	T	0.55930	0.49	6.08	-1.86	0.07760	.	.	.	.	.	T	0.21841	0.0526	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19844	-1.0293	9	0.08837	T	0.75	.	2.2423	0.04023	0.3017:0.3871:0.0929:0.2183	.	4343	Q8WZ42-6	.	A	4343	ENSP00000354117:T4343A	ENSP00000354117:T4343A	T	-	1	0	TTN	179322345	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.011000	0.12721	-0.534000	0.06315	-1.537000	0.00914	ACC	TTN	-	NULL	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	58	0	T	NM_133378		179614100	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	C	C	179614100	T	C	179614100	1	2	12	0	1	0	0	0	0	0	0	0	16784	1725	60	4		4	TTN	2	179614100	Intron	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	108058	179614100	63585273	77	3180											
TTN	7273	genome.wustl.edu	37	chr2	179666955	179666955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttggctttagtcacggCggggatcgtcagtttagcgc	6	12	14	9	4	2	0	2	0	0	0	3	1	2	1	0	4	1	3	0	4	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:179666955C>T	ENST00000591111.1	-	3	429	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	TTN_ENST00000460472.2_Missense_Mutation_p.A69T|TTN_ENST00000359218.5_Missense_Mutation_p.A69T|TTN_ENST00000342175.6_Missense_Mutation_p.A69T|TTN_ENST00000342992.6_Missense_Mutation_p.A69T|TTN_ENST00000589042.1_Missense_Mutation_p.A69T|TTN_ENST00000360870.5_Missense_Mutation_p.A69T			Q8WZ42	TITIN_HUMAN	titin	32681	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGTCACGGCGGGGATCGTC	0.547																																																	0													142	127	132					2																	179666955		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.205G>A	2.37:g.179666955C>T	ENSP00000465570:p.Ala69Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A69T	ENST00000591111.1	37	c.205		2	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008294	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25717	0.0626	N	0.16266	0.395	0.33215	D	0.553945	B;P;P;P;P	0.46784	0.372;0.634;0.634;0.634;0.884	B;B;B;B;B	0.39503	0.049;0.049;0.049;0.049;0.301	T	0.38243	-0.9670	9	0.87932	D	0	.	7.0681	0.25164	0.146:0.7154:0.0:0.1387	.	69;69;69;69;69	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	69	ENSP00000343764:A69T;ENSP00000434586:A69T;ENSP00000340554:A69T;ENSP00000352154:A69T;ENSP00000354117:A69T	ENSP00000340554:A69T	A	-	1	0	TTN	179375200	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.749000	0.47492	2.707000	0.92482	0.655000	0.94253	GCC	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.547	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	90	0	C	NM_133378		179666955	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.86	61	9	SNP	1.000	T	T	179666955	C	T	179666955	3	4	12	1	0	0	0	0	1	0	0	0	16784	768	27	1	111223	1	TTN	2	179666955	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	52855	179666955	63532418	78	3181											
HECW2	57520	genome.wustl.edu	37	chr2	197171869	197171869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgcactggcttggtGaaagtcagcttcctcccctg	6	12	9	14	0	1	1	1	1	0	0	3	1	3	1	4	2	3	3	4	2	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:197171869G>T	ENST00000260983.3	-	12	2856	c.2674C>A	c.(2674-2676)Cac>Aac	p.H892N	HECW2_ENST00000409111.1_Missense_Mutation_p.H536N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	892	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGCTTGGTGAAAGTCAGCT	0.413																																																	0													123	108	113					2																	197171869		2203	4300	6503	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2674C>A	2.37:g.197171869G>T	ENSP00000260983:p.His892Asn		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.H892N	ENST00000260983.3	37	c.2674	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960896	0.34565	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.83591	-1.74;-1.74	5.39	5.39	0.77823	.	0.443718	0.26824	N	0.022311	T	0.70386	0.3218	N	0.22421	0.69	0.41772	D	0.989773	P	0.39250	0.665	B	0.33042	0.157	T	0.72956	-0.4134	10	0.44086	T	0.13	.	12.6262	0.56630	0.075:0.0:0.925:0.0	.	892	Q9P2P5	HECW2_HUMAN	N	536;892	ENSP00000386775:H536N;ENSP00000260983:H892N	ENSP00000260983:H892N	H	-	1	0	HECW2	196880114	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.874000	0.63064	2.809000	0.96659	0.555000	0.69702	CAC	HECW2	-	NULL	ENSG00000138411		0.413	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	-	0	84	0	G	NM_020760		197171869	-1	tier1	-	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	197171869	G	T	197171869	3	4	12	1	0	0	0	0	1	0	0	0	7070	1290	45	3	2116	3	HECW2	2	197171869	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	17504914	197171869	46027504	79	3182											
SATB2	23314	genome.wustl.edu	37	chr2	200213845	200213845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttggtaaatgcattggaCgctggcccagaacacaatag	13	10	10	8	1	0	1	0	0	0	1	0	2	0	2	1	3	2	3	1	3	6	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:200213845C>T	ENST00000417098.1	-	7	1568	c.752G>A	c.(751-753)cGt>cAt	p.R251H	SATB2_ENST00000457245.1_Missense_Mutation_p.R251H|SATB2_ENST00000443023.1_Missense_Mutation_p.R192H|SATB2_ENST00000260926.5_Missense_Mutation_p.R251H|SATB2_ENST00000428695.1_Missense_Mutation_p.R133H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	251					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATGCATTGGACGCTGGCCCAG	0.413																																					Colon(30;262 767 11040 24421 36230)												0													138	124	129					2																	200213845		2203	4300	6503	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.752G>A	2.37:g.200213845C>T	ENSP00000401112:p.Arg251His		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R251H	ENST00000417098.1	37	c.752	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869393	0.51588	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.47	5.47	0.80525	.	0.143132	0.46442	D	0.000290	T	0.44685	0.1305	N	0.08118	0	0.38184	D	0.939698	B;D	0.69078	0.291;0.997	B;P	0.56865	0.02;0.808	T	0.46721	-0.9171	10	0.23891	T	0.37	-9.9323	19.692	0.96007	0.0:1.0:0.0:0.0	.	133;251	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	H	251;192;251;133;251	ENSP00000401112:R251H;ENSP00000388764:R192H;ENSP00000260926:R251H;ENSP00000388581:R133H;ENSP00000405420:R251H	ENSP00000260926:R251H	R	-	2	0	SATB2	199922090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.850000	0.62889	2.735000	0.93741	0.655000	0.94253	CGT	SATB2	-	NULL	ENSG00000119042		0.413	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	-	0	106	0	C	NM_015265		200213845	-1	tier1	-	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	5.83	97	6	SNP	1.000	T	T	200213845	C	T	200213845	3	4	12	1	0	0	0	0	1	0	0	0	13899	536	19	1	1469	1	SATB2	2	200213845	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	3041976	200213845	42985528	80	3183											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209190314	209190314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctctgccctgtgatgatAgcagtttgctggaattgagg	8	13	13	7	0	1	3	0	3	1	0	2	4	1	4	1	2	3	3	1	2	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:209190314A>G	ENST00000264380.4	+	20	2937	c.2779A>G	c.(2779-2781)Agc>Ggc	p.S927G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	927					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTGTGATGATAGCAGTTTGCT	0.522																																																	0													70	64	66					2																	209190314		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2779A>G	2.37:g.209190314A>G	ENSP00000264380:p.Ser927Gly		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.S927G	ENST00000264380.4	37	c.2779	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	A	7.678	0.688454	0.14973	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.28666	1.6;1.78	6.07	4.92	0.64577	.	0.360924	0.29892	N	0.010936	T	0.22126	0.0533	L	0.36672	1.1	0.20489	N	0.999899	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21008	-1.0258	10	0.16896	T	0.51	-6.2956	9.7679	0.40572	0.8521:0.0:0.1479:0.0	.	927;871	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	G	927;503;871	ENSP00000264380:S927G;ENSP00000405736:S871G	ENSP00000264380:S927G	S	+	1	0	PIKFYVE	208898559	0.566000	0.26618	0.301000	0.25044	0.762000	0.43233	2.316000	0.43761	1.124000	0.41980	0.528000	0.53228	AGC	PIKFYVE	-	NULL	ENSG00000115020		0.522	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	-	0	55	0	A	NM_015040		209190314	1	tier1	-	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.009	G	G	209190314	A	G	209190314	3	3	12	1	0	0	0	0	1	0	0	0	11963	420	15	4	2864	4	PIKFYVE	2	209190314	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	8976469	209190314	34009059	81	3184											
TNS1	7145	genome.wustl.edu	37	chr2	218682490	218682490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccactgggactggacatgCcgctggcgacaggcgaagac	9	4	14	14	3	0	1	0	0	0	1	0	5	0	3	3	4	1	1	3	4	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:218682490C>T	ENST00000171887.4	-	24	4705	c.4253G>A	c.(4252-4254)gGc>gAc	p.G1418D	TNS1_ENST00000419504.1_Missense_Mutation_p.G1405D|TNS1_ENST00000430930.1_Missense_Mutation_p.G1397D	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1418					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ACTGGACATGCCGCTGGCGAC	0.617																																																	0													85	76	79					2																	218682490		2203	4300	6503	SO:0001583	missense	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.4253G>A	2.37:g.218682490C>T	ENSP00000171887:p.Gly1418Asp		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.G1418D	ENST00000171887.4	37	c.4253	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800372	0.70567	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.93763	-3.28;2.0;-3.27;-3.27	5.02	5.02	0.67125	.	0.254959	0.37393	N	0.002109	D	0.96065	0.8718	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.993	D	0.95990	0.8985	10	0.51188	T	0.08	.	18.3526	0.90343	0.0:1.0:0.0:0.0	.	1418;1397;1405	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	D	1418;556;1405;1397	ENSP00000171887:G1418D;ENSP00000394171:G556D;ENSP00000408724:G1405D;ENSP00000406016:G1397D	ENSP00000171887:G1418D	G	-	2	0	TNS1	218390735	1.000000	0.71417	0.997000	0.53966	0.671000	0.39405	3.434000	0.52841	2.326000	0.78906	0.650000	0.86243	GGC	TNS1	-	NULL	ENSG00000079308		0.617	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2		0	64	0	C	NM_022648		218682490	-1			no_errors	ENST00000171887	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	218682490	C	T	218682490	3	4	12	1	0	0	0	0	1	0	0	0	16390	739	26	3	994	3	TNS1	2	218682490	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	9492176	218682490	24516883	82	3185											
SPHKAP	80309	genome.wustl.edu	37	chr2	228881930	228881930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaatcctggctgctccGtctggaggaggcactttctc	5	12	11	13	1	2	0	0	0	2	0	6	2	5	2	3	4	1	3	3	4	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:228881930G>A	ENST00000392056.3	-	7	3686	c.3640C>T	c.(3640-3642)Cgg>Tgg	p.R1214W	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1214W	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1214						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R1214W(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGCTGCTCCGTCTGGAGGAG	0.572																																																	2	Substitution - Missense(2)	prostate(2)											86	86	86					2																	228881930		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3640C>T	2.37:g.228881930G>A	ENSP00000375909:p.Arg1214Trp		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.R1214W	ENST00000392056.3	37	c.3640	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665163	0.29604	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.53423	0.62;0.62	5.87	-0.27	0.12926	.	0.349867	0.30850	N	0.008747	T	0.62319	0.2418	M	0.66939	2.045	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.71184	0.912;0.791;0.972	T	0.60556	-0.7240	10	0.87932	D	0	.	13.5188	0.61555	0.0:0.0735:0.2444:0.6821	.	245;1214;1214	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	W	1214	ENSP00000375909:R1214W;ENSP00000339886:R1214W	ENSP00000339886:R1214W	R	-	1	2	SPHKAP	228590174	0.010000	0.17322	0.000000	0.03702	0.223000	0.24884	0.296000	0.19083	-0.287000	0.09064	0.655000	0.94253	CGG	SPHKAP	-	NULL	ENSG00000153820		0.572	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1		0	27	0	G	NM_030623		228881930	-1			no_errors	ENST00000392056	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.002	A	A	228881930	G	A	228881930	3	1	12	1	0	0	0	0	1	0	0	0	15095	1144	40	1	1486	1	SPHKAP	2	228881930	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	10199440	228881930	14317443	83	3186											
TRIP12	9320	genome.wustl.edu	37	chr2	230664051	230664051	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagtactttggccttctTggccctcgttttggcagtcg	3	15	13	10	2	1	1	0	1	1	0	3	1	1	1	2	4	1	3	2	4	1	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:230664051T>C	ENST00000283943.5	-	21	3208	c.3030A>G	c.(3028-3030)ccA>ccG	p.P1010P	TRIP12_ENST00000389045.3_Silent_p.P740P|TRIP12_ENST00000389044.4_Silent_p.P1058P|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1010					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTGGCCTTCTTGGCCCTCGTT	0.423																																																	0													196	176	183					2																	230664051		2203	4300	6503	SO:0001819	synonymous_variant	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3030A>G	2.37:g.230664051T>C			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.P1010	ENST00000283943.5	37	c.3030	CCDS33391.1	2																																																																																			TRIP12	-	NULL	ENSG00000153827		0.423	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0	57	0	T	NM_004238		230664051	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	15.69	43	8	SNP	1.000	C	C	230664051	T	C	230664051	2	2	12	1	0	0	0	0	0	0	0	1	16604	1799	63	4		4	TRIP12	2	230664051	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1782121	230664051	12535322	84	3187											
PSMD1	5707	genome.wustl.edu	37	chr2	231927340	231927340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattatgctcttggagcaggGgacctcttcaatgtcaatga	11	12	10	8	0	4	1	2	1	2	0	4	3	4	3	1	3	2	2	1	3	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:231927340G>A	ENST00000308696.6	+	4	417	c.255G>A	c.(253-255)ggG>ggA	p.G85G	PSMD1_ENST00000409643.1_Silent_p.G85G|PSMD1_ENST00000373635.4_Silent_p.G85G	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	85				G -> R (in Ref. 1; BAA07918). {ECO:0000305}.	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTGGAGCAGGGGACCTCTTCA	0.423																																																	0													97	103	101					2																	231927340		2203	4300	6503	SO:0001819	synonymous_variant	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.255G>A	2.37:g.231927340G>A			B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Silent	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.G85	ENST00000308696.6	37	c.255	CCDS2482.1	2																																																																																			PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.423	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2		0	53	0	G			231927340	1			no_errors	ENST00000308696	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.996	A	A	231927340	G	A	231927340	2	1	12	1	0	0	0	0	0	0	0	1	12734	1219	43	3		3	PSMD1	2	231927340	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1263289	231927340	11272033	85	3188											
CHRNG	1146	genome.wustl.edu	37	chr2	233410318	233410318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctggccatgctctcGctcttcatctgtggcacagc	4	13	9	15	1	4	0	1	0	3	0	6	0	5	0	2	2	3	4	2	2	0	2	rs375174291	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:233410318G>A	ENST00000389494.3	+	12	1467	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	CHRNG_ENST00000389492.3_Silent_p.S430S	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	482					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CCATGCTCTCGCTCTTCATCT	0.642													G|||	2	0.000399361	0	0.0014	5008	,	,		18476	0		0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	126	97	107		1446	-9.1	0.1	2		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHRNG	NM_005199.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		482/518	233410318	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1446G>A	2.37:g.233410318G>A			B3KWM8|Q14DU4|Q53RG2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.S482	ENST00000389494.3	37	c.1446	CCDS33400.1	2																																																																																			CHRNG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000196811		0.642	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	-	0	32	0	G	NM_005199		233410318	1	tier1	-	no_errors	ENST00000389494	ensembl	human	known	74_37	silent	13.89	31	5	SNP	0.000	A	A	233410318	G	A	233410318	2	1	12	1	0	0	0	0	0	0	0	1	3403	1074	38	1		1	CHRNG	2	233410318	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1482978	233410318	9789055	86	3189											
UGT1A5	54579	genome.wustl.edu	37	chr2	234622057	234622057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgaggccctgatcaggcaCctgcatgctacttcctttga	9	11	9	12	0	1	3	1	3	0	0	2	3	2	3	3	2	3	3	3	2	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr2:234622057C>T	ENST00000373414.3	+	1	420	c.420C>T	c.(418-420)caC>caT	p.H140H	UGT1A1_ENST00000608381.1_Silent_p.H140H|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	140						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TGATCAGGCACCTGCATGCTA	0.448																																																	0													214	208	210					2																	234622057		2203	4300	6503	SO:0001819	synonymous_variant	0			M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"UDP glucuronosyltransferases"	12537	other	complex locus constituent		606430	"UDP glycosyltransferase 1 family, polypeptide A5"			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.420C>T	2.37:g.234622057C>T			B8K294	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H140	ENST00000373414.3	37	c.420	CCDS33404.1	2																																																																																			UGT1A5	-	pfam_UDP_glucos_trans	ENSG00000240224		0.448	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A5	HGNC	protein_coding	OTTHUMT00000130985.1	-	0	94	0	C	NM_019078		234622057	1	tier1	-	no_errors	ENST00000373414	ensembl	human	known	74_37	silent	12.63	83	12	SNP	0.000	T	T	234622057	C	T	234622057	2	4	12	1	0	0	0	0	0	0	0	1	16997	506	18	3		3	UGT1A5	2	234622057	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1211739	234622057	8577316	87	3190											
CNTN6	27255	genome.wustl.edu	37	chr3	1367550	1367550	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacacctctctatctatgAcaacttgctctgggaatgta	11	13	6	11	0	3	1	0	1	3	0	4	2	3	2	1	1	3	2	1	1	6	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:1367550A>T	ENST00000446702.2	+	9	1625	c.998A>T	c.(997-999)gAc>gTc	p.D333V	CNTN6_ENST00000350110.2_Missense_Mutation_p.D333V|CNTN6_ENST00000539053.1_Missense_Mutation_p.D261V			Q9UQ52	CNTN6_HUMAN	contactin 6	333	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCTATCTATGACAACTTGCTC	0.413																																																	0													126	117	120					3																	1367550		2203	4300	6503	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.998A>T	3.37:g.1367550A>T	ENSP00000407822:p.Asp333Val		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D333V	ENST00000446702.2	37	c.998	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	19.55	3.849072	0.71603	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	D;D;D	0.83075	-1.68;-1.68;-1.68	5.26	5.26	0.73747	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.64402	D	0.000018	D	0.88633	0.6489	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89585	0.3823	10	0.72032	D	0.01	.	13.7736	0.63039	1.0:0.0:0.0:0.0	.	333	Q9UQ52	CNTN6_HUMAN	V	333;261;333	ENSP00000407822:D333V;ENSP00000442791:D261V;ENSP00000341882:D333V	ENSP00000341882:D333V	D	+	2	0	CNTN6	1342550	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.462000	0.60121	1.993000	0.58246	0.528000	0.53228	GAC	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134115		0.413	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0	43	0	A	NM_014461		1367550	1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	1367550	A	T	1367550	3	4	12	1	0	0	0	0	1	0	0	0	3652	275	10	5	1028	5	CNTN6	3	1367550	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09		1367550	196654880	88	3191											
GALNTL2	117248	genome.wustl.edu	37	chr3	16237303	16237303	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggacagcctgcccacAgccagcgtcatcctctgttt	7	9	8	17	1	3	0	2	0	1	0	4	1	4	1	5	1	4	1	5	1	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:16237303A>C	ENST00000339732.5	+	2	1079	c.576A>C	c.(574-576)acA>acC	p.T192T	GALNT15_ENST00000437509.1_Silent_p.T192T	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	192	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GCCTGCCCACAGCCAGCGTCA	0.597																																																	0													94	71	79					3																	16237303		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.576A>C	3.37:g.16237303A>C			A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T192	ENST00000339732.5	37	c.576	CCDS33711.1	3																																																																																			GALNT15	-	NULL	ENSG00000131386		0.597	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2	-	0	33	0	A	NM_054110		16237303	1	tier1	-	no_errors	ENST00000339732	ensembl	human	known	74_37	silent	38.64	27	17	SNP	0.063	C	C	16237303	A	C	16237303	2	2	12	1	0	0	0	0	0	0	0	1	6247	175	7	4		4	GALNTL2	3	16237303	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	14869753	16237303	181785127	89	3192											
GALNTL2	117248	genome.wustl.edu	37	chr3	16237358	16237358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccactctcctgcggactGtacacagcatcctcgacaca	9	8	8	16	2	1	0	0	0	1	0	5	2	3	1	3	2	3	2	3	2	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:16237358G>A	ENST00000339732.5	+	2	1134	c.631G>A	c.(631-633)Gta>Ata	p.V211I	GALNT15_ENST00000437509.1_Missense_Mutation_p.V211I	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	211	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCTGCGGACTGTACACAGCAT	0.612																																																	0													103	77	86					3																	16237358		2203	4300	6503	SO:0001583	missense	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.631G>A	3.37:g.16237358G>A	ENSP00000344260:p.Val211Ile		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V211I	ENST00000339732.5	37	c.631	CCDS33711.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227139	0.79576	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.56611	0.45;0.45	4.88	4.01	0.46588	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	T	0.54255	0.1847	L	0.31578	0.945	0.48341	D	0.999633	D	0.52996	0.957	P	0.57324	0.818	T	0.52102	-0.8620	10	0.38643	T	0.18	.	13.0615	0.59010	0.0778:0.0:0.9222:0.0	.	211	Q8N3T1	GLTL2_HUMAN	I	211	ENSP00000344260:V211I;ENSP00000395873:V211I	ENSP00000344260:V211I	V	+	1	0	GALNTL2	16212362	1.000000	0.71417	0.741000	0.31004	0.934000	0.57294	3.455000	0.52993	1.057000	0.40506	0.555000	0.69702	GTA	GALNT15	-	pfam_Glyco_trans_2	ENSG00000131386		0.612	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2	-	0	46	0	G	NM_054110		16237358	1	tier1	-	no_errors	ENST00000339732	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	A	A	16237358	G	A	16237358	3	1	12	1	0	0	0	0	1	0	0	0	6247	1377	48	3	637	3	GALNTL2	3	16237358	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	55	16237358	181785072	90	3193											
XIRP1	165904	genome.wustl.edu	37	chr3	39226622	39226622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggccggggccccactGtggtgaggtgggatcatggt	5	8	20	8	1	1	2	1	2	0	0	1	3	1	3	3	8	0	0	3	8	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:39226622G>T	ENST00000340369.3	-	2	4543	c.4315C>A	c.(4315-4317)Cag>Aag	p.Q1439K	XIRP1_ENST00000421646.1_Missense_Mutation_p.Q122K|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1439					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCCCCACTGTGGTGAGGTG	0.627																																																	0													54	63	60					3																	39226622		2203	4300	6503	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.4315C>A	3.37:g.39226622G>T	ENSP00000343140:p.Gln1439Lys		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.Q1439K	ENST00000340369.3	37	c.4315	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896845	0.52121	.	.	ENSG00000168334	ENST00000340369;ENST00000421646	T;T	0.21361	3.83;2.01	4.42	2.61	0.31194	.	28.544400	0.00166	U	0.000002	T	0.20047	0.0482	L	0.54323	1.7	0.09310	N	1	B	0.30068	0.267	B	0.25140	0.058	T	0.33033	-0.9884	10	0.07482	T	0.82	.	7.34	0.26632	0.2118:0.0:0.7882:0.0	.	1439	Q702N8	XIRP1_HUMAN	K	1439;122	ENSP00000343140:Q1439K;ENSP00000391645:Q122K	ENSP00000343140:Q1439K	Q	-	1	0	XIRP1	39201626	0.425000	0.25498	0.000000	0.03702	0.000000	0.00434	4.227000	0.58612	0.583000	0.29574	-0.136000	0.14681	CAG	XIRP1	-	NULL	ENSG00000168334		0.627	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1		0	70	0	G	XM_093522		39226622	-1			no_errors	ENST00000340369	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.003	T	T	39226622	G	T	39226622	3	4	12	1	0	0	0	0	1	0	0	0	17478	1386	48	3	1220	3	XIRP1	3	39226622	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	22989264	39226622	158795808	91	3194											
HHATL	57467	genome.wustl.edu	37	chr3	42740347	42740347	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccaagggcccattgtGcccatcacagccaaggcccc	10	5	10	16	0	1	0	1	0	0	0	1	0	1	0	6	3	3	1	6	3	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:42740347G>T	ENST00000441594.1	-	5	597	c.336C>A	c.(334-336)ggC>ggA	p.G112G	HHATL_ENST00000310417.5_Silent_p.G112G	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	112					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GGCCCATTGTGCCCATCACAG	0.607																																																	0													74	75	75					3																	42740347		2203	4300	6503	SO:0001819	synonymous_variant	0			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"membrane bound O-acyltransferase domain containing 3"	608116	"chromosome 3 open reading frame 3", "GUP1, glycerol uptake/transporter homolog (yeast)"	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.336C>A	3.37:g.42740347G>T			Q8TBG3|Q9ULP7	Silent	SNP	pfam_MBOAT_fam	p.G112	ENST00000441594.1	37	c.336	CCDS2704.1	3																																																																																			HHATL	-	NULL	ENSG00000010282		0.607	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HHATL	HGNC	protein_coding	OTTHUMT00000343627.1	-	0	23	0	G	NM_020707		42740347	-1	tier1	-	no_errors	ENST00000310417	ensembl	human	known	74_37	silent	26.67	11	4	SNP	1.000	T	T	42740347	G	T	42740347	2	4	12	1	0	0	0	0	0	0	0	1	7117	1306	46	3		3	HHATL	3	42740347	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	3513725	42740347	155282083	92	3195											
DOCK3	1795	genome.wustl.edu	37	chr3	50816175	50816175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagaaacagtccagattcTtgaaaaatgtgaaggtgagt	16	9	12	4	0	1	5	0	3	1	2	2	6	2	5	1	2	1	0	1	2	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:50816175T>C	ENST00000266037.9	+	2	130	c.107T>C	c.(106-108)cTt>cCt	p.L36P		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	36	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GTCCAGATTCTTGAAAAATGT	0.353																																																	0													101	87	92					3																	50816175		1833	4079	5912	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.107T>C	3.37:g.50816175T>C	ENSP00000266037:p.Leu36Pro		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.L36P	ENST00000266037.9	37	c.107	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	N	19.29	3.798436	0.70567	.	.	ENSG00000088538	ENST00000266037	T	0.10382	2.88	5.4	5.4	0.78164	Src homology-3 domain (3);Variant SH3 (1);	0.085498	0.47852	D	0.000217	T	0.45054	0.1323	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59931	-0.7361	10	0.72032	D	0.01	.	13.2449	0.60018	0.0:0.0:0.0:1.0	.	36	Q8IZD9	DOCK3_HUMAN	P	36	ENSP00000266037:L36P	ENSP00000266037:L36P	L	+	2	0	DOCK3	50791179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.557000	0.67313	2.175000	0.68902	0.533000	0.62120	CTT	DOCK3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000088538		0.353	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0	53	0	T	NM_004947		50816175	1			no_errors	ENST00000266037	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	50816175	T	C	50816175	3	2	12	1	0	0	0	0	1	0	0	0	4702	1609	56	4	113	4	DOCK3	3	50816175	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	8075828	50816175	147206255	93	3196											
STAB1	23166	genome.wustl.edu	37	chr3	52547774	52547774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcgtggatgtggctgacctCcttgccaccaacggtgtcct	6	10	12	13	2	0	1	0	1	0	0	2	2	2	2	5	3	3	1	5	3	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:52547774C>T	ENST00000321725.6	+	31	3388	c.3312C>T	c.(3310-3312)ctC>ctT	p.L1104L		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1104	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGGCTGACCTCCTTGCCACCA	0.582																																																	0													106	87	93					3																	52547774		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3312C>T	3.37:g.52547774C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.L1104	ENST00000321725.6	37	c.3312	CCDS33768.1	3																																																																																			STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000010327		0.582	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	23	0	C	NM_015136		52547774	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	silent	20.00	12	3	SNP	1.000	T	T	52547774	C	T	52547774	2	4	12	1	0	0	0	0	0	0	0	1	15284	842	30	3		3	STAB1	3	52547774	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1731599	52547774	145474656	94	3197											
CACNA2D3	55799	genome.wustl.edu	37	chr3	54930780	54930780	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttccacttcaagggacTtcctgaaagctggcgacaag	10	11	9	11	1	2	1	1	1	1	0	4	3	4	2	2	2	1	1	2	2	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:54930780T>G	ENST00000474759.1	+	26	2299	c.2251T>G	c.(2251-2253)Ttc>Gtc	p.F751V	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F657V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F751V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F751V|CACNA2D3-AS1_ENST00000471265.1_RNA	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	751						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TTCAAGGGACTTCCTGAAAGC	0.507																																																	0													127	129	128					3																	54930780		1987	4157	6144	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2251T>G	3.37:g.54930780T>G	ENSP00000419101:p.Phe751Val		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.F751V	ENST00000474759.1	37	c.2251	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589945	0.66105	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.69	4.51	0.55191	.	0.168435	0.53938	D	0.000043	T	0.18045	0.0433	M	0.68317	2.08	0.46416	D	0.999039	D	0.58268	0.982	P	0.56127	0.792	T	0.07009	-1.0795	10	0.17369	T	0.5	.	11.6328	0.51185	0.0:0.0:0.1487:0.8512	.	751	Q8IZS8	CA2D3_HUMAN	V	751;751;751;657;657	ENSP00000389506:F751V;ENSP00000419101:F751V;ENSP00000288197:F751V;ENSP00000417279:F657V	ENSP00000288197:F751V	F	+	1	0	CACNA2D3	54905820	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	5.654000	0.67974	1.065000	0.40693	0.533000	0.62120	TTC	CACNA2D3	-	NULL	ENSG00000157445		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	-	0	62	0	T			54930780	1	tier1	-	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	20.97	49	13	SNP	1.000	G	G	54930780	T	G	54930780	3	3	12	1	0	0	0	0	1	0	0	0	2557	1609	56	4	2353	4	CACNA2D3	3	54930780	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2383006	54930780	143091650	95	3198											
PSMD6	9861	genome.wustl.edu	37	chr3	64005037	64005037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaaataagccaatcctaagGagatagaatacaatatccaa	21	8	5	7	0	0	2	0	0	0	2	2	3	2	2	3	1	2	0	3	1	11	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:64005037G>A	ENST00000295901.4	-	3	572	c.432C>T	c.(430-432)ctC>ctT	p.L144L	RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000492933.1_Silent_p.L197L|PSMD6_ENST00000482510.1_Silent_p.L105L|PSMD6_ENST00000394431.2_Silent_p.L106L	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	144					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		CAATCCTAAGGAGATAGAATA	0.413																																																	0													103	104	103					3																	64005037		2203	4300	6503	SO:0001819	synonymous_variant	0			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"Proteasome (prosome, macropain) subunits"	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.432C>T	3.37:g.64005037G>A			A8K2E0|E9PHI9|Q6UV22	Silent	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.L144	ENST00000295901.4	37	c.432	CCDS2901.1	3																																																																																			PSMD6	-	pfam_26S_proteasome_reg_su-Rpn7	ENSG00000163636		0.413	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD6	HGNC	protein_coding	OTTHUMT00000352082.1	-	0	64	0	G	NM_014814		64005037	-1	tier1	-	no_errors	ENST00000295901	ensembl	human	known	74_37	silent	11.84	66	9	SNP	0.999	A	A	64005037	G	A	64005037	2	1	12	1	0	0	0	0	0	0	0	1	12744	1161	41	3		3	PSMD6	3	64005037	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	9074257	64005037	134017393	96	3199											
ROBO2	6092	genome.wustl.edu	37	chr3	77626728	77626728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgggatcctcctcCtccagatcaccagaatggaa	9	11	8	13	0	1	2	1	0	0	2	6	4	6	4	6	2	0	1	6	2	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:77626728C>G	ENST00000461745.1	+	15	3191	c.2291C>G	c.(2290-2292)cCt>cGt	p.P764R	ROBO2_ENST00000487694.3_Missense_Mutation_p.P780R|ROBO2_ENST00000332191.8_Missense_Mutation_p.P764R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	764	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GATCCTCCTCCTCCAGATCAC	0.483																																																	0													84	84	84					3																	77626728		1895	4109	6004	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2291C>G	3.37:g.77626728C>G	ENSP00000417164:p.Pro764Arg		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P764R	ENST00000461745.1	37	c.2291	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979692	0.92982	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.56776	0.44;0.44;0.44	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000339	T	0.70116	0.3187	M	0.90145	3.09	0.46336	D	0.998996	P;P;P	0.44986	0.847;0.707;0.847	P;P;P	0.46917	0.531;0.464;0.531	T	0.76721	-0.2855	9	0.62326	D	0.03	.	19.7501	0.96265	0.0:1.0:0.0:0.0	.	780;764;764	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	R	780;780;784;764;764;485	ENSP00000417335:P780R;ENSP00000417164:P764R;ENSP00000327536:P764R	ENSP00000327536:P764R	P	+	2	0	ROBO2	77709418	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.667000	0.90743	0.491000	0.48974	CCT	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.483	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	49	0	C	XM_031246		77626728	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	G	G	77626728	C	G	77626728	3	3	12	1	0	0	0	0	1	0	0	0	13559	681	24	5	2351	5	ROBO2	3	77626728	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	13621691	77626728	120395702	97	3200											
ROBO1	6091	genome.wustl.edu	37	chr3	78685023	78685023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctcgccagagtccccGctgccattgttcatgttgtt	4	15	9	13	2	2	1	1	0	1	1	4	1	3	1	4	0	2	5	4	0	0	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:78685023G>A	ENST00000464233.1	-	23	3386	c.3273C>T	c.(3271-3273)agC>agT	p.S1091S	ROBO1_ENST00000467549.1_Silent_p.S991S|ROBO1_ENST00000495273.1_Silent_p.S1046S|ROBO1_ENST00000436010.2_Silent_p.S1052S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1091			S -> N (in dbSNP:rs35456279).		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGAGTCCCCGCTGCCATTGT	0.512																																																	0													167	169	168					3																	78685023		2148	4262	6410	SO:0001819	synonymous_variant	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3273C>T	3.37:g.78685023G>A			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1091	ENST00000464233.1	37	c.3273	CCDS54611.1	3																																																																																			ROBO1	-	NULL	ENSG00000169855		0.512	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	82	0	G	NM_002941		78685023	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	silent	28.89	63	26	SNP	0.115	A	A	78685023	G	A	78685023	2	1	12	1	0	0	0	0	0	0	0	1	13558	1078	38	1		1	ROBO1	3	78685023	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1058295	78685023	119337407	98	3201											
GBE1	2632	genome.wustl.edu	37	chr3	81586214	81586214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatttccttttcttgggaAgtctaaccattcaggatgcc	9	16	7	9	0	3	0	1	0	2	0	4	2	4	2	3	2	2	0	3	2	3	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:81586214A>C	ENST00000429644.2	-	13	2294	c.1651T>G	c.(1651-1653)Ttc>Gtc	p.F551V	GBE1_ENST00000489715.1_Missense_Mutation_p.F510V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	551					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTTCTTGGGAAGTCTAACCAT	0.338									Glycogen Storage Disease, type IV																																								0													64	63	63					3																	81586214		1847	4104	5951	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1651T>G	3.37:g.81586214A>C	ENSP00000410833:p.Phe551Val		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.F551V	ENST00000429644.2	37	c.1651	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247777	0.80024	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.93247	-3.19;-3.19	5.3	5.3	0.74995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	H	0.99074	4.42	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99777	1.1026	10	0.87932	D	0	-21.3026	15.5267	0.75915	1.0:0.0:0.0:0.0	.	510;551	E9PGM4;Q04446	.;GLGB_HUMAN	V	551;602;510;314	ENSP00000410833:F551V;ENSP00000419638:F510V	ENSP00000264326:F602V	F	-	1	0	GBE1	81668904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.132000	0.65825	0.528000	0.53228	TTC	GBE1	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	-	0	39	0	A			81586214	-1	tier1	-	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	C	C	81586214	A	C	81586214	3	2	12	1	0	0	0	0	1	0	0	0	6295	72	3	4	473	4	GBE1	3	81586214	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2901191	81586214	116436216	99	3202											
HTR1F	3355	genome.wustl.edu	37	chr3	88039930	88039930	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaattcatctgatcaaaacTtgacctcagaggaactgtta	15	12	6	8	0	4	3	3	2	1	1	4	4	4	4	1	1	2	1	1	1	6	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:88039930T>G	ENST00000319595.4	+	1	85	c.31T>G	c.(31-33)Ttg>Gtg	p.L11V		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	11					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGATCAAAACTTGACCTCAGA	0.368																																																	0													93	96	95					3																	88039930		2203	4300	6503	SO:0001583	missense	0			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.31T>G	3.37:g.88039930T>G	ENSP00000322924:p.Leu11Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L11V	ENST00000319595.4	37	c.31	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	T	2.966	-0.213470	0.06140	.	.	ENSG00000179097	ENST00000319595	T	0.37915	1.17	5.96	3.46	0.39613	.	0.714517	0.12707	N	0.445880	T	0.16342	0.0393	N	0.08118	0	0.27297	N	0.957683	B	0.09022	0.002	B	0.08055	0.003	T	0.26292	-1.0107	10	0.13853	T	0.58	.	6.3939	0.21601	0.1399:0.0772:0.0:0.7829	.	11	P30939	5HT1F_HUMAN	V	11	ENSP00000322924:L11V	ENSP00000322924:L11V	L	+	1	2	HTR1F	88122620	0.136000	0.22515	1.000000	0.80357	0.263000	0.26337	0.486000	0.22340	1.078000	0.41014	-0.359000	0.07587	TTG	HTR1F	-	prints_5HT1F_rcpt	ENSG00000179097		0.368	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	-	0	45	0	T	NM_000866		88039930	1	tier1	-	no_errors	ENST00000319595	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	G	G	88039930	T	G	88039930	3	3	12	1	0	0	0	0	1	0	0	0	7467	1606	56	4	33	4	HTR1F	3	88039930	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	6453716	88039930	109982500	100	3203											
EPHA3	2042	genome.wustl.edu	37	chr3	89448604	89448604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgggacgaacagccgcaAgtttgagtttgaaactagtc	13	10	11	7	2	0	2	0	2	0	0	1	4	0	3	1	1	3	3	1	1	5	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:89448604A>G	ENST00000336596.2	+	7	1793	c.1568A>G	c.(1567-1569)aAg>aGg	p.K523R	EPHA3_ENST00000452448.2_Missense_Mutation_p.K523R|EPHA3_ENST00000494014.1_Missense_Mutation_p.K523R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	523	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AACAGCCGCAAGTTTGAGTTT	0.458										TSP Lung(6;0.00050)																																							0													106	99	101					3																	89448604		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1568A>G	3.37:g.89448604A>G	ENSP00000337451:p.Lys523Arg		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K523R	ENST00000336596.2	37	c.1568	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562784	0.27915	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.53423	0.62;0.62;0.62	5.53	5.53	0.82687	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.151132	0.64402	D	0.000010	T	0.33498	0.0865	N	0.14661	0.345	0.44181	D	0.996997	P;B	0.35433	0.501;0.356	B;B	0.36922	0.081;0.236	T	0.14811	-1.0459	9	.	.	.	.	15.6643	0.77213	1.0:0.0:0.0:0.0	.	523;523	P29320;P29320-2	EPHA3_HUMAN;.	R	523	ENSP00000337451:K523R;ENSP00000399926:K523R;ENSP00000419190:K523R	.	K	+	2	0	EPHA3	89531294	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.023000	0.57211	2.107000	0.64212	0.460000	0.39030	AAG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	-	0	40	0	A	NM_005233		89448604	1	tier1	-	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	G	G	89448604	A	G	89448604	3	3	12	1	0	0	0	0	1	0	0	0	5184	72	3	4	1594	4	EPHA3	3	89448604	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1408674	89448604	108573826	101	3204											
KIAA2018	205717	genome.wustl.edu	37	chr3	113379312	113379312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtactaacacttgaaGaaggcaaagaacaagaaaga	21	5	9	6	0	0	6	0	2	0	4	0	6	0	6	0	1	3	2	0	1	9	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:113379312G>T	ENST00000478658.1	-	5	1234	c.1217C>A	c.(1216-1218)tCt>tAt	p.S406Y	KIAA2018_ENST00000316407.4_Missense_Mutation_p.S406Y|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	406						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S406Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACACTTGAAGAAGGCAAAGA	0.443																																																	1	Substitution - Missense(1)	endometrium(1)											91	84	86					3																	113379312		1912	4128	6040	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1217C>A	3.37:g.113379312G>T	ENSP00000420721:p.Ser406Tyr		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S406Y	ENST00000478658.1	37	c.1217	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973007	0.53614	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.17854	2.25;2.25	5.44	5.44	0.79542	.	0.433011	0.24527	N	0.037748	T	0.27524	0.0676	L	0.29908	0.895	0.53688	D	0.999974	D	0.65815	0.995	P	0.60886	0.88	T	0.01078	-1.1459	10	0.72032	D	0.01	-13.5028	14.7595	0.69596	0.0:0.0:1.0:0.0	.	406	Q68DE3	K2018_HUMAN	Y	406	ENSP00000320794:S406Y;ENSP00000420721:S406Y	ENSP00000320794:S406Y	S	-	2	0	KIAA2018	114862002	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.747000	0.62141	2.556000	0.86216	0.650000	0.86243	TCT	KIAA2018	-	NULL	ENSG00000176542		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	38	0	G	NM_001009899		113379312	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	113379312	G	T	113379312	3	4	12	1	0	0	0	0	1	0	0	0	8295	942	33	3	5524	3	KIAA2018	3	113379312	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	23930708	113379312	84643118	102	3205											
PLXNA1	5361	genome.wustl.edu	37	chr3	126737155	126737155	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcgggcaggtggcttcGagttctcgccagggacactg	6	8	17	10	3	1	0	0	0	1	0	3	2	1	1	1	5	1	3	1	5	0	2	rs375219341		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:126737155G>T	ENST00000393409.2	+	19	3679	c.3679G>T	c.(3679-3681)Gag>Tag	p.E1227*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.E1204*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1227	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGTGGCTTCGAGTTCTCGCC	0.647																																																	0													36	37	37					3																	126737155		2197	4299	6496	SO:0001587	stop_gained	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3679G>T	3.37:g.126737155G>T	ENSP00000377061:p.Glu1227*			Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E1227*	ENST00000393409.2	37	c.3679	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	41	9.113046	0.99069	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	4.18	3.29	0.37713	.	0.381624	0.22553	N	0.058580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.9937	0.58634	0.0:0.1637:0.8363:0.0	.	.	.	.	X	1227;1204	.	ENSP00000251772:E1204X	E	+	1	0	PLXNA1	128219845	1.000000	0.71417	0.954000	0.39281	0.688000	0.40055	5.367000	0.66127	0.938000	0.37419	0.467000	0.42956	GAG	PLXNA1	-	superfamily_Ig_E-set,smart_IPT	ENSG00000114554		0.647	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1		0	102	0	G	NM_032242		126737155	1			no_errors	ENST00000393409	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	0.995	T	T	126737155	G	T	126737155	4	4	12	1	0	0	0	0	0	1	0	0	12158	1059	37	2	3753	2	PLXNA1	3	126737155	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	13357843	126737155	71285275	103	3206											
RAB7A	7879	genome.wustl.edu	37	chr3	128526498	128526498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttccagacgattgcacGgaatgcacttaagcaggtgg	10	8	14	9	3	0	1	0	0	0	1	1	3	1	2	1	4	3	4	1	4	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:128526498G>A	ENST00000265062.3	+	5	758	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	RAB7A_ENST00000485280.1_Intron|RAB7A_ENST00000482525.1_Missense_Mutation_p.R124Q	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	171					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		ACGATTGCACGGAATGCACTT	0.577																																																	0													158	144	149					3																	128526498		2203	4300	6503	SO:0001583	missense	0			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"RAB, member RAS oncogene"	9788	protein-coding gene	gene with protein product		602298	"RAB7, member RAS oncogene family"	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.512G>A	3.37:g.128526498G>A	ENSP00000265062:p.Arg171Gln		A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R171Q	ENST00000265062.3	37	c.512	CCDS3052.1	3	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687634	0.68157	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000493186;ENST00000483906	T;T;D;T	0.83591	-1.18;-1.38;-1.74;-1.38	5.36	3.58	0.41010	.	.	.	.	.	T	0.74779	0.3761	L	0.35854	1.095	0.80722	D	1	B;B	0.25850	0.136;0.079	B;B	0.22601	0.04;0.019	T	0.69577	-0.5108	9	0.42905	T	0.14	-10.4107	12.0997	0.53776	0.1392:0.0:0.8608:0.0	.	124;171	C9J8S3;P51149	.;RAB7A_HUMAN	Q	171;124;62;98	ENSP00000265062:R171Q;ENSP00000417668:R124Q;ENSP00000417189:R62Q;ENSP00000417155:R98Q	ENSP00000265062:R171Q	R	+	2	0	RAB7A	130009188	1.000000	0.71417	0.884000	0.34674	0.581000	0.36288	8.674000	0.91191	0.835000	0.34877	-0.157000	0.13467	CGG	RAB7A	-	pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000075785		0.577	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB7A	HGNC	protein_coding	OTTHUMT00000357479.1	-	0	41	0	G			128526498	1	tier1	-	no_errors	ENST00000265062	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A	A	128526498	G	A	128526498	3	1	12	1	0	0	0	0	1	0	0	0	12999	1116	39	1	526	1	RAB7A	3	128526498	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1789343	128526498	69495932	104	3207											
COL6A5	256076	genome.wustl.edu	37	chr3	130103862	130103862	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctaatgatattgacttaAgaaaggctatttttaacatt	15	17	5	4	0	1	3	0	2	1	1	1	3	1	3	0	1	1	1	0	1	6	10			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:130103862A>C	ENST00000432398.2	+	5	2010	c.1516A>C	c.(1516-1518)Aga>Cga	p.R506R	COL6A5_ENST00000265379.6_Silent_p.R506R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	506	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TATTGACTTAAGAAAGGCTAT	0.353																																																	0													89	79	82					3																	130103862		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.1516A>C	3.37:g.130103862A>C			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R506	ENST00000432398.2	37	c.1516		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.353	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	41	0	A	NM_153264		130103862	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	37.50	24	15	SNP	0.000	C	C	130103862	A	C	130103862	2	2	12	1	0	0	0	0	0	0	0	1	3709	64	3	4		4	COL6A5	3	130103862	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1577364	130103862	67918568	105	3208											
IGSF10	285313	genome.wustl.edu	37	chr3	151160934	151160934	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggtcactcgctcttccAttgtaagcattactactctt	7	15	7	12	1	3	0	1	0	2	0	5	0	4	0	1	2	3	4	1	2	3	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:151160934A>C	ENST00000282466.3	-	5	5800	c.5801T>G	c.(5800-5802)aTg>aGg	p.M1934R	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1934					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGCTCTTCCATTGTAAGCAT	0.468																																																	0													121	124	123					3																	151160934		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5801T>G	3.37:g.151160934A>C	ENSP00000282466:p.Met1934Arg		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.M1934R	ENST00000282466.3	37	c.5801	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	A	9.670	1.146380	0.21288	.	.	ENSG00000152580	ENST00000489791;ENST00000282466;ENST00000544042	T;T	0.27256	1.81;1.68	5.24	4.08	0.47627	Immunoglobulin-like fold (1);	1.132120	0.06802	N	0.788838	T	0.26448	0.0646	N	0.24115	0.695	0.09310	N	1	P	0.38745	0.645	B	0.43838	0.433	T	0.36407	-0.9749	10	0.87932	D	0	.	10.7553	0.46232	0.9252:0.0:0.0748:0.0	.	1934	Q6WRI0	IGS10_HUMAN	R	2;1934;561	ENSP00000417627:M2R;ENSP00000282466:M1934R	ENSP00000282466:M1934R	M	-	2	0	IGSF10	152643624	0.993000	0.37304	0.010000	0.14722	0.032000	0.12392	7.463000	0.80869	0.857000	0.35407	0.482000	0.46254	ATG	IGSF10	-	smart_Ig_sub	ENSG00000152580		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	57	0	A	NM_178822		151160934	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.132	C	C	151160934	A	C	151160934	3	2	12	1	0	0	0	0	1	0	0	0	7624	217	8	4	2126	4	IGSF10	3	151160934	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	21057072	151160934	46861496	106	3209											
BCHE	590	genome.wustl.edu	37	chr3	165547720	165547720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttatgatactattgttatCtttgctgaagccaggagcac	11	14	9	7	0	1	2	0	2	1	0	1	3	1	3	1	1	4	4	1	1	5	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:165547720C>A	ENST00000264381.3	-	2	1268	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	368					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTATTGTTATCTTTGCTGAAG	0.338																																																	0													26	28	28					3																	165547720		2199	4293	6492	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1102G>T	3.37:g.165547720C>A	ENSP00000264381:p.Asp368Tyr		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.D368Y	ENST00000264381.3	37	c.1102	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433582	0.43224	.	.	ENSG00000114200	ENST00000264381	D	0.95137	-3.62	5.55	5.55	0.83447	Carboxylesterase, type B (1);	0.099352	0.64402	D	0.000002	D	0.96956	0.9006	M	0.74467	2.265	0.80722	D	1	D	0.71674	0.998	D	0.68039	0.955	D	0.97332	0.9951	10	0.87932	D	0	.	18.4902	0.90844	0.0:1.0:0.0:0.0	.	368	P06276	CHLE_HUMAN	Y	368	ENSP00000264381:D368Y	ENSP00000264381:D368Y	D	-	1	0	BCHE	167030414	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.063000	0.41423	2.617000	0.88574	0.655000	0.94253	GAT	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.338	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	67	0	C			165547720	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	missense	29.17	51	21	SNP	1.000	A	A	165547720	C	A	165547720	3	1	12	1	0	0	0	0	1	0	0	0	1359	913	32	3	718	3	BCHE	3	165547720	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	14386786	165547720	32474710	107	3210											
BCHE	590	genome.wustl.edu	37	chr3	165548322	165548322	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcattgacactacaataActctttcaacccgagccaga	14	10	5	12	1	3	2	2	1	1	1	3	3	3	2	2	0	4	1	2	0	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:165548322A>C	ENST00000264381.3	-	2	666	c.500T>G	c.(499-501)gTt>gGt	p.V167G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	167					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CACTACAATAACTCTTTCAAC	0.418																																																	0													55	57	56					3																	165548322		2203	4300	6503	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.500T>G	3.37:g.165548322A>C	ENSP00000264381:p.Val167Gly		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.V167G	ENST00000264381.3	37	c.500	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661223	0.67700	.	.	ENSG00000114200	ENST00000264381	T	0.78003	-1.14	5.62	5.62	0.85841	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.92273	0.7549	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94797	0.7967	10	0.87932	D	0	.	15.005	0.71504	1.0:0.0:0.0:0.0	.	167	P06276	CHLE_HUMAN	G	167	ENSP00000264381:V167G	ENSP00000264381:V167G	V	-	2	0	BCHE	167031016	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.194000	0.94962	2.139000	0.66308	0.533000	0.62120	GTT	BCHE	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	ENSG00000114200		0.418	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	40	0	A			165548322	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	missense	17.07	34	7	SNP	1.000	C	C	165548322	A	C	165548322	3	2	12	1	0	0	0	0	1	0	0	0	1359	43	2	4	1320	4	BCHE	3	165548322	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	602	165548322	32474108	108	3211											
NLGN1	22871	genome.wustl.edu	37	chr3	173996816	173996816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaagccttacaaagaacTtgttgaccaagatattcaac	17	9	7	8	0	1	4	1	1	0	3	1	5	1	4	2	0	4	1	2	0	8	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:173996816T>G	ENST00000457714.1	+	6	1454	c.1025T>G	c.(1024-1026)cTt>cGt	p.L342R	NLGN1_ENST00000361589.4_Missense_Mutation_p.L342R|NLGN1_ENST00000401917.3_Missense_Mutation_p.L382R|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.L342R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	359					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TACAAAGAACTTGTTGACCAA	0.423																																																	0													212	190	197					3																	173996816		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1025T>G	3.37:g.173996816T>G	ENSP00000392500:p.Leu342Arg		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L382R	ENST00000457714.1	37	c.1145	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911537	0.72983	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.90542	0.7036	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94133	0.7390	10	0.87932	D	0	.	16.0817	0.81010	0.0:0.0:0.0:1.0	.	382;342	D2X2H5;Q8N2Q7-2	.;.	R	342;342;342;382	ENSP00000392500:L342R;ENSP00000354541:L342R;ENSP00000441108:L342R;ENSP00000385750:L382R	ENSP00000354541:L342R	L	+	2	0	NLGN1	175479510	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.206000	0.71126	0.383000	0.25322	CTT	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	76	0	T	NM_014932		173996816	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	G	G	173996816	T	G	173996816	3	3	12	1	0	0	0	0	1	0	0	0	10500	1609	56	4	1039	4	NLGN1	3	173996816	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	8448494	173996816	24025614	109	3212											
MFI2	4241	genome.wustl.edu	37	chr3	196730925	196730925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgatagttggaggagtCgaacattttgaacccgttct	10	12	11	8	2	1	2	0	2	1	0	2	5	1	4	2	2	2	2	2	2	3	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr3:196730925C>A	ENST00000296350.5	-	15	2097	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	662	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTGGAGGAGTCGAACATTTTG	0.592																																																	0													323	326	325					3																	196730925		2203	4300	6503	SO:0001583	missense	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1984G>T	3.37:g.196730925C>A	ENSP00000296350:p.Asp662Tyr		Q9BQE2	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.D662Y	ENST00000296350.5	37	c.1984	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759724	0.89932	.	.	ENSG00000163975	ENST00000296350	T	0.33216	1.42	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41574	-0.9501	10	0.42905	T	0.14	-43.0853	17.1327	0.86730	0.0:1.0:0.0:0.0	.	662	P08582	TRFM_HUMAN	Y	662	ENSP00000296350:D662Y	ENSP00000296350:D662Y	D	-	1	0	MFI2	198215322	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	4.622000	0.61240	2.639000	0.89480	0.561000	0.74099	GAC	MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000163975		0.592	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	-	0	55	0	C			196730925	-1	tier1	-	no_errors	ENST00000296350	ensembl	human	known	74_37	missense	23.94	54	17	SNP	1.000	A	A	196730925	C	A	196730925	3	1	12	1	0	0	0	0	1	0	0	0	9560	884	31	2	240	2	MFI2	3	196730925	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	22734109	196730925	1291505	110	3213											
CRMP1	1400	genome.wustl.edu	37	chr4	5837646	5837646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggccaggacttaccgacTtgtgacttttggctgttatg	8	14	11	8	1	0	1	0	1	0	0	0	3	0	2	2	3	1	2	2	3	3	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:5837646T>C	ENST00000397890.2	-	11	1491	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.K540R|CRMP1_ENST00000512574.1_Missense_Mutation_p.K424R	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	426					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.K540R(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACTTACCGACTTGTGACTTTT	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											127	118	121					4																	5837646		2203	4300	6503	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1277A>G	4.37:g.5837646T>C	ENSP00000380987:p.Lys426Arg		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.K540R	ENST00000397890.2	37	c.1619	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	T	15.49	2.850483	0.51270	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	T;T;T	0.73363	-0.74;-0.74;-0.74	4.33	4.33	0.51752	Metal-dependent hydrolase, composite domain (1);	0.168004	0.52532	D	0.000067	T	0.62780	0.2456	L	0.27053	0.805	0.42521	D	0.993002	B;B;B;B	0.12013	0.001;0.0;0.0;0.005	B;B;B;B	0.15052	0.002;0.0;0.001;0.012	T	0.63492	-0.6625	10	0.66056	D	0.02	-29.5855	13.1172	0.59307	0.0:0.0:0.0:1.0	.	540;424;426;363	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	R	540;426;426;424	ENSP00000321606:K540R;ENSP00000380987:K426R;ENSP00000425742:K424R	ENSP00000321606:K540R	K	-	2	0	CRMP1	5888547	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.481000	0.60250	1.957000	0.56846	0.416000	0.27883	AAG	CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.448	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	-	0	88	0	T	NM_001313		5837646	-1	tier1	-	no_errors	ENST00000324989	ensembl	human	known	74_37	missense	13.79	100	16	SNP	1.000	C	C	5837646	T	C	5837646	3	2	12	1	0	0	0	0	1	0	0	0	3897	1609	56	4	457	4	CRMP1	4	5837646	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09		5837646	185316630	111	3214											
HS3ST1	9957	genome.wustl.edu	37	chr4	11401402	11401402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggccgccacgtcggggtgCaggctgagcatctccagcag	6	5	16	14	4	1	1	0	1	1	0	3	1	1	1	3	4	3	4	3	4	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:11401402C>T	ENST00000002596.5	-	2	1402	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	76					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGTCGGGGTGCAGGCTGAGCA	0.657																																																	0													57	48	51					4																	11401402		2203	4300	6503	SO:0001819	synonymous_variant	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.228G>A	4.37:g.11401402C>T			B3KUA6|Q6PEY8	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L76	ENST00000002596.5	37	c.228	CCDS3408.1	4																																																																																			HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.657	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	-	0	44	0	C	NM_005114		11401402	-1	tier1	-	no_errors	ENST00000002596	ensembl	human	known	74_37	silent	23.08	30	9	SNP	1.000	T	T	11401402	C	T	11401402	2	4	12	1	0	0	0	0	0	0	0	1	7390	697	25	3		3	HS3ST1	4	11401402	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5563756	11401402	179752874	112	3215											
BOD1L	259282	genome.wustl.edu	37	chr4	13602954	13602954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcttttgcgcctgtgCtagtcacaatgccttcatca	6	15	6	14	1	4	0	3	0	1	0	5	0	5	0	3	0	3	1	3	0	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:13602954C>A	ENST00000040738.5	-	10	5705	c.5570G>T	c.(5569-5571)aGc>aTc	p.S1857I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1857						nucleus (GO:0005634)	DNA binding (GO:0003677)										TGCGCCTGTGCTAGTCACAAT	0.473																																																	0													138	136	137					4																	13602954		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5570G>T	4.37:g.13602954C>A	ENSP00000040738:p.Ser1857Ile		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.S1857I	ENST00000040738.5	37	c.5570	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100488	0.76983	.	.	ENSG00000038219	ENST00000040738	T	0.17854	2.25	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000003	T	0.21962	0.0529	L	0.34521	1.04	0.45183	D	0.998194	D	0.54047	0.964	P	0.48425	0.577	T	0.01920	-1.1247	10	0.87932	D	0	-1.118	17.9523	0.89057	0.0:1.0:0.0:0.0	.	1857	Q8NFC6	BOD1L_HUMAN	I	1857	ENSP00000040738:S1857I	ENSP00000040738:S1857I	S	-	2	0	BOD1L	13212052	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.064000	0.64338	2.239000	0.73571	0.561000	0.74099	AGC	BOD1L1	-	NULL	ENSG00000038219		0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1		0	29	0	C	NM_148894		13602954	-1			no_errors	ENST00000040738	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	13602954	C	A	13602954	3	1	12	1	0	0	0	0	1	0	0	0	1485	797	28	3	3653	3	BOD1L	4	13602954	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2201552	13602954	177551322	113	3216											
KCNIP4	80333	genome.wustl.edu	37	chr4	21305474	21305474	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaactgttccaataatttaAcaaaaagcacaatgacgatc	19	9	4	9	1	0	1	0	1	0	0	2	2	1	1	1	0	3	2	1	0	7	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:21305474A>C	ENST00000382152.2	-	2	229				KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron|KCNIP4_ENST00000382150.4_Missense_Mutation_p.V19G|KCNIP4_ENST00000509207.1_Intron|RP11-120A1.1_ENST00000515680.2_RNA	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4							dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CAATAATTTAACAAAAAGCAC	0.413																																																	0													117	103	108					4																	21305474		2203	4300	6503	SO:0001627	intron_variant	0			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"EF-hand domain containing"	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.62-421142T>G	4.37:g.21305474A>C			Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.V19G	ENST00000382152.2	37	c.56	CCDS43216.1	4	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598092	0.66332	.	.	ENSG00000185774	ENST00000382150	T	0.71817	-0.6	5.56	5.56	0.83823	.	.	.	.	.	T	0.60625	0.2283	L	0.27053	0.805	0.80722	D	1	B	0.22800	0.075	B	0.17433	0.018	T	0.59573	-0.7429	9	0.66056	D	0.02	.	15.7023	0.77552	1.0:0.0:0.0:0.0	.	19	Q3YAC0	.	G	19	ENSP00000371585:V19G	ENSP00000371585:V19G	V	-	2	0	KCNIP4	20914572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.584000	0.90798	2.113000	0.64589	0.533000	0.62120	GTT	KCNIP4	-	NULL	ENSG00000185774		0.413	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	KCNIP4	HGNC	protein_coding	OTTHUMT00000360407.3	-	0	39	0	A	NM_025221		21305474	-1	tier1	-	no_errors	ENST00000382150	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	C	C	21305474	A	C	21305474	1	2	12	0	1	0	0	0	0	0	0	0	8069	43	2	4		4	KCNIP4	4	21305474	Intron	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	7702520	21305474	169848802	114	3217											
KIT	3815	genome.wustl.edu	37	chr4	55595599	55595599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgttcaaagcaggaagatCatgcagaagctgcactttat	13	12	9	7	0	2	2	2	0	0	2	2	3	2	3	0	1	4	5	0	1	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:55595599C>G	ENST00000288135.5	+	14	2186	c.2089C>G	c.(2089-2091)Cat>Gat	p.H697D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.H697Y(1)|p.H697fs*28(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGAAGATCATGCAGAAGC	0.378		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	2	Substitution - Missense(1)|Deletion - Frameshift(1)	thymus(1)|soft_tissue(1)											108	112	111					4																	55595599		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2089C>G	4.37:g.55595599C>G	ENSP00000288135:p.His697Asp		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H697D	ENST00000288135.5	37	c.2089	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	C	11.99	1.804297	0.31869	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76448	-1.02;-1.02	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.379912	0.25310	N	0.031594	T	0.69477	0.3115	N	0.19112	0.55	0.38968	D	0.958681	B;B;B	0.22080	0.042;0.029;0.064	B;B;B	0.34038	0.023;0.047;0.174	T	0.66156	-0.5994	10	0.39692	T	0.17	.	14.4463	0.67352	0.147:0.853:0.0:0.0	.	204;693;697	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	D	697;693	ENSP00000288135:H697D;ENSP00000390987:H693D	ENSP00000288135:H697D	H	+	1	0	KIT	55290356	1.000000	0.71417	0.634000	0.29324	0.686000	0.39977	2.782000	0.47758	2.882000	0.98803	0.655000	0.94253	CAT	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000157404		0.378	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	48	0	C			55595599	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.859	G	G	55595599	C	G	55595599	3	3	12	1	0	0	0	0	1	0	0	0	8356	826	29	5	2143	5	KIT	4	55595599	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	34290125	55595599	135558677	115	3218											
C4orf14	84273	genome.wustl.edu	37	chr4	57839424	57839424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgtacccataacagggtCattttccatgtcaaaggcaa	12	11	9	9	0	2	0	2	0	0	0	3	0	3	0	2	2	2	2	2	2	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:57839424C>T	ENST00000264230.4	-	3	2642	c.1405G>A	c.(1405-1407)Gac>Aac	p.D469N		NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	469	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										ATAACAGGGTCATTTTCCATG	0.403																																																	0													232	225	227					4																	57839424		2203	4300	6503	SO:0001583	missense	0			AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"nitric oxide synthase, mitochondrial (putative)", "mitochondrial GTPase 3 homolog (S. cerevisiae)"	614919	"chromosome 4 open reading frame 14"	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1405G>A	4.37:g.57839424C>T	ENSP00000264230:p.Asp469Asn		Q8N7L6|Q9BSQ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.D469N	ENST00000264230.4	37	c.1405	CCDS3510.1	4	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676447	0.67928	.	.	ENSG00000084092	ENST00000264230	T	0.30981	1.51	5.17	4.33	0.51752	.	0.205281	0.50627	D	0.000119	T	0.36717	0.0977	L	0.54323	1.7	0.42086	D	0.991277	P	0.36683	0.565	B	0.42593	0.392	T	0.17471	-1.0368	10	0.36615	T	0.2	.	15.9239	0.79597	0.0:0.8647:0.1352:0.0	.	469	Q8NC60	CD014_HUMAN	N	469	ENSP00000264230:D469N	ENSP00000264230:D469N	D	-	1	0	C4orf14	57534181	1.000000	0.71417	0.997000	0.53966	0.748000	0.42578	4.189000	0.58358	1.380000	0.46344	0.655000	0.94253	GAC	NOA1	-	superfamily_P-loop_NTPase	ENSG00000084092		0.403	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOA1	HGNC	protein_coding	OTTHUMT00000250694.2	-	0	76	0	C	NM_032313		57839424	-1	tier1	-	no_errors	ENST00000264230	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	57839424	C	T	57839424	3	4	12	1	0	0	0	0	1	0	0	0	2258	826	29	3	711	3	C4orf14	4	57839424	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2243825	57839424	133314852	116	3219											
HNRPDL	9987	genome.wustl.edu	37	chr4	83350579	83350579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatggagctggatttaaaatGgcggcggaagagatccgggc	11	8	16	6	3	0	1	0	0	0	1	1	5	1	4	1	6	1	1	1	6	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:83350579G>T	ENST00000295470.5	-	1	440	c.265C>A	c.(265-267)Cat>Aat	p.H89N	HNRNPDL_ENST00000349655.4_5'UTR|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.H89N|HNRNPDL_ENST00000514511.1_5'Flank|HNRNPDL_ENST00000602300.1_5'UTR|ENOPH1_ENST00000273920.3_5'Flank|ENOPH1_ENST00000509635.1_5'Flank	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	89					regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GATTTAAAATGGCGGCGGAAG	0.711																																																	0													23	29	27					4																	83350579		2198	4297	6495	SO:0001583	missense	0			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.265C>A	4.37:g.83350579G>T	ENSP00000295470:p.His89Asn		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H89N	ENST00000295470.5	37	c.265	CCDS3593.1	4	.	.	.	.	.	.	.	.	.	.	g	18.04	3.535250	0.64972	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	T;T	0.66280	-0.2;-0.2	5.35	4.45	0.53987	.	0.290799	0.24796	N	0.035523	T	0.42063	0.1186	N	0.08118	0	0.80722	D	1	B	0.24186	0.099	B	0.24006	0.05	T	0.36187	-0.9758	10	0.37606	T	0.19	.	13.5028	0.61467	0.0:0.1565:0.8435:0.0	.	89	O14979	HNRDL_HUMAN	N	89	ENSP00000295470:H89N;ENSP00000422040:H89N	ENSP00000295470:H89N	H	-	1	0	HNRPDL	83569603	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	4.399000	0.59703	2.500000	0.84329	0.585000	0.79938	CAT	HNRNPDL	-	NULL	ENSG00000152795		0.711	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPDL	HGNC	protein_coding	OTTHUMT00000252644.1		0	70	0	G	NM_005463		83350579	-1			no_errors	ENST00000295470	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	83350579	G	T	83350579	3	4	12	1	0	0	0	0	1	0	0	0	7303	1348	47	3	1025	3	HNRPDL	4	83350579	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	25511155	83350579	107803697	117	3220											
ARHGAP24	83478	genome.wustl.edu	37	chr4	86916623	86916623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgacctttcccaccccaggGactatgaaagcaaaagtgac	14	6	8	13	1	0	2	0	2	0	0	1	4	1	3	4	1	1	1	4	1	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:86916623G>T	ENST00000395184.1	+	9	2282	c.1816G>T	c.(1816-1818)Gac>Tac	p.D606Y	ARHGAP24_ENST00000395183.2_Missense_Mutation_p.D511Y|ARHGAP24_ENST00000264343.4_Missense_Mutation_p.D513Y	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	606					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCACCCCAGGGACTATGAAAG	0.552																																																	0													81	80	81					4																	86916623		2203	4300	6503	SO:0001583	missense	0			AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1816G>T	4.37:g.86916623G>T	ENSP00000378611:p.Asp606Tyr		Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D606Y	ENST00000395184.1	37	c.1816	CCDS34025.1	4	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384498	0.82792	.	.	ENSG00000138639	ENST00000395184;ENST00000395183;ENST00000514229;ENST00000264343	T;T;T;T	0.17691	2.61;2.27;2.26;2.26	5.73	5.73	0.89815	.	0.047424	0.85682	D	0.000000	T	0.34542	0.0901	L	0.57536	1.79	0.80722	D	1	D;P;D	0.56521	0.969;0.955;0.976	P;P;P	0.54312	0.563;0.748;0.656	T	0.01869	-1.1257	10	0.72032	D	0.01	.	19.8932	0.96939	0.0:0.0:1.0:0.0	.	511;513;606	Q8N264-3;Q8N264-2;Q8N264	.;.;RHG24_HUMAN	Y	606;511;521;513	ENSP00000378611:D606Y;ENSP00000378610:D511Y;ENSP00000425589:D521Y;ENSP00000264343:D513Y	ENSP00000264343:D513Y	D	+	1	0	ARHGAP24	87135647	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.947000	0.75959	2.710000	0.92621	0.491000	0.48974	GAC	ARHGAP24	-	NULL	ENSG00000138639		0.552	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP24	HGNC	protein_coding	OTTHUMT00000252815.2	-	0	44	0	G	NM_031305		86916623	1	tier1	-	no_errors	ENST00000395184	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	86916623	G	T	86916623	3	4	12	1	0	0	0	0	1	0	0	0	873	1174	41	3	1962	3	ARHGAP24	4	86916623	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	3566044	86916623	104237653	118	3221											
PTPN13	5783	genome.wustl.edu	37	chr4	87693997	87693997	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccccaatcagaatctgcTtcctctagttcgatggataa	12	11	6	12	1	3	1	1	0	2	1	5	3	4	2	3	1	2	2	3	1	5	4	rs574873739	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:87693997T>G	ENST00000411767.2	+	32	5298	c.5235T>G	c.(5233-5235)gcT>gcG	p.A1745A	PTPN13_ENST00000316707.6_Silent_p.A1554A|PTPN13_ENST00000511467.1_Silent_p.A1750A|PTPN13_ENST00000436978.1_Silent_p.A1750A|PTPN13_ENST00000427191.2_Silent_p.A1726A			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1745	Poly-Ser.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAGAATCTGCTTCCTCTAGTT	0.393																																																	0													138	131	133					4																	87693997		1839	4087	5926	SO:0001819	synonymous_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5235T>G	4.37:g.87693997T>G			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A1750	ENST00000411767.2	37	c.5250	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	81	0	T			87693997	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	silent	29.63	38	16	SNP	0.002	G	G	87693997	T	G	87693997	2	3	12	1	0	0	0	0	0	0	0	1	12825	1596	56	4		4	PTPN13	4	87693997	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	777374	87693997	103460279	119	3222											
MMRN1	22915	genome.wustl.edu	37	chr4	90857433	90857433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgcaagacattgagtctAaagttacccagacgctcata	13	10	9	9	1	2	3	1	1	1	2	2	3	2	3	1	1	2	4	1	1	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:90857433A>C	ENST00000394980.1	+	7	2921	c.2602A>C	c.(2602-2604)Aaa>Caa	p.K868Q	MMRN1_ENST00000264790.2_Missense_Mutation_p.K868Q|MMRN1_ENST00000508372.1_Missense_Mutation_p.K610Q|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	868					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CATTGAGTCTAAAGTTACCCA	0.343																																																	0													37	39	39					4																	90857433		2198	4294	6492	SO:0001583	missense	0			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"EMI domain containing"	7178	protein-coding gene	gene with protein product	"glycoprotein Ia*"	601456	"multimerin"	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.2602A>C	4.37:g.90857433A>C	ENSP00000378431:p.Lys868Gln		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain	p.K868Q	ENST00000394980.1	37	c.2602	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640214	0.47153	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.71698	-0.31;-0.31;-0.59	5.3	5.3	0.74995	.	0.065263	0.64402	D	0.000006	T	0.74283	0.3696	L	0.54323	1.7	0.80722	D	1	D	0.62365	0.991	P	0.57101	0.813	T	0.70450	-0.4868	10	0.21014	T	0.42	.	11.9	0.52678	0.8545:0.1454:0.0:0.0	.	868	Q13201	MMRN1_HUMAN	Q	868;868;610	ENSP00000378431:K868Q;ENSP00000264790:K868Q;ENSP00000426461:K610Q	ENSP00000264790:K868Q	K	+	1	0	MMRN1	91076456	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	3.187000	0.50950	2.308000	0.77769	0.533000	0.62120	AAA	MMRN1	-	NULL	ENSG00000138722		0.343	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	HGNC	protein_coding	OTTHUMT00000253546.2	-	0	54	0	A	NM_007351		90857433	1	tier1	-	no_errors	ENST00000264790	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.999	C	C	90857433	A	C	90857433	3	2	12	1	0	0	0	0	1	0	0	0	9708	363	13	4	2624	4	MMRN1	4	90857433	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	3163436	90857433	100296843	120	3223											
FAM190A	401145	genome.wustl.edu	37	chr4	91234154	91234154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaagaagttaatagtttaAgaaagcaaagagcaggttct	18	10	10	3	0	1	4	0	0	1	4	1	4	1	4	0	1	2	5	0	1	8	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:91234154A>G	ENST00000509176.1	+	3	1753	c.1465A>G	c.(1465-1467)Aga>Gga	p.R489G	CCSER1_ENST00000432775.2_Missense_Mutation_p.R489G|CCSER1_ENST00000333691.8_Missense_Mutation_p.R489G	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	489																	TAATAGTTTAAGAAAGCAAAG	0.368																																																	0													35	36	36					4																	91234154		1835	4078	5913	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1465A>G	4.37:g.91234154A>G	ENSP00000425040:p.Arg489Gly		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.R489G	ENST00000509176.1	37	c.1465	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774291	0.49786	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.50548	1.27;0.74;1.27	4.55	0.133	0.14766	.	0.067754	0.56097	D	0.000026	T	0.55847	0.1946	L	0.43152	1.355	0.27951	N	0.93714	D;D;D	0.64830	0.988;0.994;0.982	P;D;P	0.65773	0.853;0.938;0.873	T	0.57100	-0.7869	10	0.66056	D	0.02	-21.2045	13.8956	0.63770	0.5186:0.4814:0.0:0.0	.	489;489;489	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	G	489	ENSP00000425040:R489G;ENSP00000389283:R489G;ENSP00000329482:R489G	ENSP00000329482:R489G	R	+	1	2	FAM190A	91453177	0.468000	0.25839	0.916000	0.36221	0.760000	0.43138	0.535000	0.23114	0.279000	0.22186	0.482000	0.46254	AGA	CCSER1	-	NULL	ENSG00000184305		0.368	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0	64	0	A	NM_001145065		91234154	1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	34.88	28	15	SNP	0.987	G	G	91234154	A	G	91234154	3	3	12	1	0	0	0	0	1	0	0	0	5540	64	3	4	1471	4	FAM190A	4	91234154	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	376721	91234154	99920122	121	3224											
SMARCAD1	56916	genome.wustl.edu	37	chr4	95200104	95200104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacagaaatgtgcaatgTcatgatgcagttgaggaaaa	18	8	10	5	0	1	3	1	2	0	1	1	4	1	4	0	1	3	3	0	1	5	1	rs112326108		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:95200104T>C	ENST00000354268.4	+	19	2394	c.2321T>C	c.(2320-2322)gTc>gCc	p.V774A	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.V776A|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.V344A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	774					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATGTGCAATGTCATGATGCAG	0.333																																																	0													104	99	101					4																	95200104		2203	4300	6503	SO:0001583	missense	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2321T>C	4.37:g.95200104T>C	ENSP00000346217:p.Val774Ala		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V776A	ENST00000354268.4	37	c.2327	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	T	14.51	2.555605	0.45487	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	6.08	4.9	0.64082	SNF2-related (1);	0.000000	0.43579	D	0.000555	T	0.63283	0.2498	L	0.35793	1.09	0.49582	D	0.999806	B;B	0.15719	0.014;0.011	B;B	0.24006	0.05;0.03	T	0.55392	-0.8148	10	0.21540	T	0.41	-2.7614	9.7452	0.40442	0.0:0.1482:0.0:0.8518	.	774;776	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	A	776;776;774;344	ENSP00000351947:V776A;ENSP00000415576:V776A;ENSP00000346217:V774A;ENSP00000423286:V344A	ENSP00000346217:V774A	V	+	2	0	SMARCAD1	95419127	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.246000	0.58740	1.127000	0.42034	0.533000	0.62120	GTC	SMARCAD1	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000163104		0.333	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	-	0	66	0	T	NM_020159		95200104	1	tier1	rs112326108	no_errors	ENST00000359052	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C	C	95200104	T	C	95200104	3	2	12	1	0	0	0	0	1	0	0	0	14817	1667	58	4	2397	4	SMARCAD1	4	95200104	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	3965950	95200104	95954172	122	3225											
HADH	3033	genome.wustl.edu	37	chr4	108935634	108935634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcaccatagcgaccagCacggatgcagcctccgttgt	9	7	11	14	3	0	1	0	1	0	0	1	3	1	2	4	1	5	4	4	1	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:108935634C>A	ENST00000309522.3	+	3	458	c.309C>A	c.(307-309)agC>agA	p.S103R	HADH_ENST00000603302.1_Missense_Mutation_p.S103R|HADH_ENST00000403312.1_Missense_Mutation_p.S162R|HADH_ENST00000454409.2_Missense_Mutation_p.S107R|HADH_ENST00000505878.1_Missense_Mutation_p.S107R	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	432					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		TAGCGACCAGCACGGATGCAG	0.522																																																	0													158	144	149					4																	108935634		2203	4300	6503	SO:0001583	missense	0			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.309C>A	4.37:g.108935634C>A	ENSP00000312288:p.Ser103Arg		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like	p.S162R	ENST00000309522.3	37	c.486	CCDS3678.1	4	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223965	0.39300	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	T;T;T	0.77358	-1.09;-1.09;-1.09	5.84	4.99	0.66335	3-hydroxyacyl-CoA dehydrogenase, NAD binding (1);NAD(P)-binding domain (1);	0.270861	0.45361	D	0.000375	D	0.83188	0.5200	M	0.82323	2.585	0.80722	D	1	D;D;P	0.56521	0.971;0.976;0.753	P;P;B	0.48901	0.556;0.594;0.272	D	0.86432	0.1761	10	0.87932	D	0	-22.4974	15.2366	0.73436	0.0:0.932:0.0:0.068	.	162;107;103	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	R	103;103;107;107	ENSP00000312288:S103R;ENSP00000425952:S107R;ENSP00000395167:S107R	ENSP00000312288:S103R	S	+	3	2	HADH	109155083	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	1.912000	0.39946	2.760000	0.94817	0.655000	0.94253	AGC	HADH	-	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_AlaDH/PNT_NAD(H)-bd,pfam_UDP-Glc/GDP-Man_DH_N	ENSG00000138796		0.522	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADH	HGNC	protein_coding	OTTHUMT00000254750.2	-	0	73	0	C	NM_005327		108935634	1	tier1	-	no_errors	ENST00000403312	ensembl	human	known	74_37	missense	23.33	46	14	SNP	1.000	A	A	108935634	C	A	108935634	3	1	12	1	0	0	0	0	1	0	0	0	6969	709	25	3	319	3	HADH	4	108935634	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	13735530	108935634	82218642	123	3226											
EGF	1950	genome.wustl.edu	37	chr4	110904673	110904673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacagaatctcaacacatgCtagtggctgaaatcatggtg	13	11	9	8	0	2	2	2	1	1	1	3	2	2	2	0	2	3	2	0	2	5	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:110904673C>A	ENST00000265171.5	+	16	2912	c.2467C>A	c.(2467-2469)Cta>Ata	p.L823I	EGF_ENST00000509793.1_Missense_Mutation_p.L781I|EGF_ENST00000503392.1_Missense_Mutation_p.L823I	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	823					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TCAACACATGCTAGTGGCTGA	0.378																																																	0													111	102	105					4																	110904673		2203	4300	6503	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2467C>A	4.37:g.110904673C>A	ENSP00000265171:p.Leu823Ile		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.L823I	ENST00000265171.5	37	c.2467	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286588	0.23478	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.88354	-2.37;-2.28;-1.94	5.44	4.59	0.56863	.	0.367903	0.27375	N	0.019642	D	0.85847	0.5792	L	0.60012	1.86	0.34884	D	0.744886	B;B;B	0.33940	0.307;0.433;0.307	B;B;B	0.40009	0.168;0.316;0.168	D	0.84685	0.0719	10	0.25751	T	0.34	.	6.2901	0.21054	0.0:0.7634:0.0:0.2366	.	823;781;823	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	I	781;823;823	ENSP00000424316:L781I;ENSP00000265171:L823I;ENSP00000421384:L823I	ENSP00000265171:L823I	L	+	1	2	EGF	111124122	0.022000	0.18835	0.285000	0.24819	0.037000	0.13140	0.313000	0.19415	2.558000	0.86282	0.655000	0.94253	CTA	EGF	-	pirsf_Pro-epidermal_GF	ENSG00000138798		0.378	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	-	0	46	0	C			110904673	1	tier1	-	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.518	A	A	110904673	C	A	110904673	3	1	12	1	0	0	0	0	1	0	0	0	4976	796	28	3	2529	3	EGF	4	110904673	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1969039	110904673	80249603	124	3227											
FAT4	79633	genome.wustl.edu	37	chr4	126328260	126328260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaattttccagacccGtgtactcttttgacattcct	9	14	4	14	1	1	2	0	1	1	1	3	2	3	2	4	0	1	1	4	0	2	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:126328260G>T	ENST00000394329.3	+	3	5546	c.5533G>T	c.(5533-5535)Gtg>Ttg	p.V1845L	FAT4_ENST00000335110.5_Missense_Mutation_p.V143L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1845	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1845L(4)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCAGACCCGTGTACTCTTT	0.408																																																	4	Substitution - Missense(4)	lung(4)											133	130	131					4																	126328260		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5533G>T	4.37:g.126328260G>T	ENSP00000377862:p.Val1845Leu		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V1845L	ENST00000394329.3	37	c.5533	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	9.548	1.115053	0.20795	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01767	4.65;4.65	5.41	4.58	0.56647	Cadherin (2);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.01061	0.0035	N	0.05534	-0.03	0.27910	N	0.938631	B;B	0.26809	0.16;0.029	B;B	0.24006	0.05;0.022	T	0.44345	-0.9334	10	0.08179	T	0.78	.	10.3915	0.44171	0.07:0.0:0.7963:0.1337	.	143;1845	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	L	1845;143	ENSP00000377862:V1845L;ENSP00000335169:V143L	ENSP00000335169:V143L	V	+	1	0	FAT4	126547710	1.000000	0.71417	0.981000	0.43875	0.185000	0.23345	4.823000	0.62694	1.422000	0.47177	-0.127000	0.14921	GTG	FAT4	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	39	0	G	NM_024582		126328260	1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.949	T	T	126328260	G	T	126328260	3	4	12	1	0	0	0	0	1	0	0	0	5714	1145	40	2	5543	2	FAT4	4	126328260	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	15423587	126328260	64826016	125	3228											
PET112L	5188	genome.wustl.edu	37	chr4	152680021	152680021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaagagtttagagttgGaggaaatctgggcatgaatt	14	10	14	3	0	1	4	0	1	1	3	1	7	1	6	0	3	0	3	0	3	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:152680021G>T	ENST00000515812.1	-	2	246	c.230C>A	c.(229-231)tCc>tAc	p.S77Y	PET112_ENST00000508611.1_Missense_Mutation_p.S77Y|PET112_ENST00000263985.6_Missense_Mutation_p.S77Y|PET112_ENST00000512306.1_Missense_Mutation_p.S77Y																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						TTTAGAGTTGGAGGAAATCTG	0.393																																																	0													133	136	135					4																	152680021		2203	4300	6503	SO:0001583	missense	0																														ENST00000515812.1:c.230C>A	4.37:g.152680021G>T	ENSP00000426859:p.Ser77Tyr			Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.S77Y	ENST00000515812.1	37	c.230		4	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268321	0.80469	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306;ENST00000508611	T;T;T;T	0.49720	0.85;0.84;0.86;0.77	5.92	5.92	0.95590	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.052790	0.85682	D	0.000000	T	0.74635	0.3742	M	0.90082	3.085	0.80722	D	1	D;D	0.60160	0.987;0.987	P;P	0.62014	0.852;0.897	T	0.79060	-0.1958	10	0.87932	D	0	-25.6165	20.3167	0.98654	0.0:0.0:1.0:0.0	.	77;77	D6RDU9;O75879	.;GATB_HUMAN	Y	77	ENSP00000263985:S77Y;ENSP00000426859:S77Y;ENSP00000420831:S77Y;ENSP00000421105:S77Y	ENSP00000263985:S77Y	S	-	2	0	PET112	152899471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.638000	0.83328	2.809000	0.96659	0.557000	0.71058	TCC	PET112	-	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu	ENSG00000059691		0.393	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	-	0	72	0	G			152680021	-1	tier1	-	no_errors	ENST00000263985	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	152680021	G	T	152680021	3	4	12	1	0	0	0	0	1	0	0	0	11773	1174	41	3	1491	3	PET112L	4	152680021	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	26351761	152680021	38474255	126	3229											
DCHS2	54798	genome.wustl.edu	37	chr4	155254028	155254028	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctgcacgctgggggccaAgtgggtgcgcctgtgtttgc	4	9	18	10	2	0	0	0	0	0	0	0	0	0	0	2	4	3	4	2	4	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:155254028A>C	ENST00000357232.4	-	9	1834	c.1835T>G	c.(1834-1836)cTt>cGt	p.L612R	DCHS2_ENST00000339452.1_Missense_Mutation_p.L1111R|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	612	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGGGGCCAAGTGGGTGCGC	0.537																																																	0													62	62	62					4																	155254028		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1835T>G	4.37:g.155254028A>C	ENSP00000349768:p.Leu612Arg		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L612R	ENST00000357232.4	37	c.1835	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	A	8.515	0.867460	0.17250	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.61274	0.12;0.77	5.06	-0.814	0.10846	Cadherin (3);Cadherin-like (1);	0.801566	0.10573	N	0.658939	T	0.32763	0.0840	N	0.21583	0.68	0.09310	N	1	B;B	0.30686	0.29;0.021	B;B	0.31614	0.133;0.016	T	0.21690	-1.0238	10	0.08837	T	0.75	.	2.5971	0.04856	0.3985:0.3538:0.1335:0.1142	.	1111;612	E9PC11;Q6V1P9	.;PCD23_HUMAN	R	612;1111;1111	ENSP00000349768:L612R;ENSP00000345062:L1111R	ENSP00000345062:L1111R	L	-	2	0	DCHS2	155473478	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.290000	0.18975	-0.270000	0.09285	-1.156000	0.01807	CTT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.537	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	19	0	A	NM_001142552		155254028	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.000	C	C	155254028	A	C	155254028	3	2	12	1	0	0	0	0	1	0	0	0	4297	72	3	4	7079	4	DCHS2	4	155254028	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2574007	155254028	35900248	127	3230											
FGB	2244	genome.wustl.edu	37	chr4	155487151	155487151	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacgctgacccagacctGgtgggtgcactgatgtttct	6	12	11	12	1	2	3	1	2	1	1	2	3	2	3	2	2	1	3	2	2	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:155487151G>A	ENST00000302068.4	+	2	369	c.306G>A	c.(304-306)ctG>ctA	p.L102L	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	102			Missing (in New York-1). {ECO:0000269|PubMed:3156856}.		blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACCCAGACCTGGTGGGTGCAC	0.522																																					NSCLC(106;1133 1613 21870 46110 52656)												0													32	29	30					4																	155487151		2202	4299	6501	SO:0001630	splice_region_variant	0				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.306+1G>A	4.37:g.155487151G>A			A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.L102	ENST00000302068.4	37	c.306	CCDS3786.1	4																																																																																			FGB	-	pfam_Fibrinogen_a/b/g_coil_dom	ENSG00000171564		0.522	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGB	HGNC	protein_coding	OTTHUMT00000317595.1	-	0	61	0	G	NM_005141	Silent	155487151	1	tier1	-	no_errors	ENST00000302068	ensembl	human	known	74_37	silent	16.28	36	7	SNP	1.000	A	A	155487151	G	A	155487151	5	1	12	1	0	0	0	0	0	0	1	0	5853	1362	47	3	312	3	FGB	4	155487151	Splice_Site	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	233123	155487151	35667125	128	3231											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160275112	160275112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagccgaaagcagtagccTaacgtctgtgactacggaag	13	7	12	9	3	1	2	0	2	1	0	1	4	1	3	2	1	5	2	2	1	6	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:160275112T>C	ENST00000264431.4	+	22	4501	c.4082T>C	c.(4081-4083)cTa>cCa	p.L1361P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1361					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGCAGTAGCCTAACGTCTGTG	0.488																																																	0													45	46	46					4																	160275112		1954	4174	6128	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4082T>C	4.37:g.160275112T>C	ENSP00000264431:p.Leu1361Pro		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L1361P	ENST00000264431.4	37	c.4082	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	T	13.48	2.249473	0.39797	.	.	ENSG00000109756	ENST00000264431	T	0.38722	1.12	6.17	6.17	0.99709	.	0.468781	0.25520	N	0.030105	T	0.26376	0.0644	N	0.08118	0	0.44547	D	0.997505	P	0.36789	0.57	B	0.33799	0.17	T	0.13308	-1.0514	10	0.42905	T	0.14	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1361	Q9Y4G8	RPGF2_HUMAN	P	1361	ENSP00000264431:L1361P	ENSP00000264431:L1361P	L	+	2	0	RAPGEF2	160494562	0.997000	0.39634	0.012000	0.15200	0.001000	0.01503	4.605000	0.61119	2.371000	0.80710	0.533000	0.62120	CTA	RAPGEF2	-	NULL	ENSG00000109756		0.488	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2		0	48	0	T	NM_014247		160275112	1			no_errors	ENST00000264431	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.942	C	C	160275112	T	C	160275112	3	2	12	1	0	0	0	0	1	0	0	0	13089	1522	53	4	4168	4	RAPGEF2	4	160275112	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	4787961	160275112	30879164	129	3232											
TLL1	7092	genome.wustl.edu	37	chr4	166976339	166976339	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacaaacctgaagacataAgatctacctccaatactttg	16	10	5	10	0	1	4	0	2	1	2	2	4	2	4	3	0	3	0	3	0	6	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr4:166976339A>C	ENST00000061240.2	+	13	2283	c.1636A>C	c.(1636-1638)Aga>Cga	p.R546R	TLL1_ENST00000507499.1_Silent_p.R569R|RNA5SP170_ENST00000517150.1_RNA	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	546	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAAGACATAAGATCTACCTC	0.378																																																	0													123	120	121					4																	166976339		2203	4300	6503	SO:0001819	synonymous_variant	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1636A>C	4.37:g.166976339A>C			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.R546	ENST00000061240.2	37	c.1636	CCDS3811.1	4																																																																																			TLL1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom	ENSG00000038295		0.378	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1		0	56	0	A			166976339	1			no_errors	ENST00000061240	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.338	C	C	166976339	A	C	166976339	2	2	12	1	0	0	0	0	0	0	0	1	15992	64	3	4		4	TLL1	4	166976339	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	6701227	166976339	24177937	130	3233											
KIAA0947	23379	genome.wustl.edu	37	chr5	5464761	5464761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaacatcctcaaagggAatattcaactcacacgaggt	14	8	6	13	1	4	0	4	0	0	0	5	2	5	1	2	2	2	0	2	2	5	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:5464761A>G	ENST00000296564.7	+	13	5536	c.5314A>G	c.(5314-5316)Aat>Gat	p.N1772D		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1772					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTCAAAGGGAATATTCAACT	0.512																																																	0													36	36	36					5																	5464761		1900	4115	6015	SO:0001583	missense	0																														ENST00000296564.7:c.5314A>G	5.37:g.5464761A>G	ENSP00000296564:p.Asn1772Asp		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.N1772D	ENST00000296564.7	37	c.5314	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791720	0.70452	.	.	ENSG00000164151	ENST00000296564	T	0.29917	1.55	5.34	2.96	0.34315	.	.	.	.	.	T	0.47673	0.1458	M	0.61703	1.905	0.40340	D	0.979022	D	0.71674	0.998	D	0.80764	0.994	T	0.42396	-0.9454	9	0.87932	D	0	-15.1561	7.9663	0.30100	0.8292:0.0:0.1708:0.0	.	1772	Q9Y2F5	K0947_HUMAN	D	1772	ENSP00000296564:N1772D	ENSP00000296564:N1772D	N	+	1	0	KIAA0947	5517761	1.000000	0.71417	0.540000	0.28089	0.776000	0.43924	6.359000	0.73060	0.352000	0.24053	0.383000	0.25322	AAT	KIAA0947	-	NULL	ENSG00000164151		0.512	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	45	0	A			5464761	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.994	G	G	5464761	A	G	5464761	3	3	12	1	0	0	0	0	1	0	0	0	8229	246	9	4	5364	4	KIAA0947	5	5464761	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09		5464761	175450499	131	3234											
SEMA5A	9037	genome.wustl.edu	37	chr5	9190519	9190519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcatgcatcagaatgaacTtctgagcatcctgcagattt	11	12	7	11	0	3	4	2	2	1	2	4	4	4	4	2	0	4	3	2	0	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:9190519T>G	ENST00000382496.5	-	11	1798	c.1133A>C	c.(1132-1134)aAg>aCg	p.K378T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	378	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CAGAATGAACTTCTGAGCATC	0.577																																																	0													136	108	118					5																	9190519		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1133A>C	5.37:g.9190519T>G	ENSP00000371936:p.Lys378Thr		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.K378T	ENST00000382496.5	37	c.1133	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861916	0.71949	.	.	ENSG00000112902	ENST00000382496	T	0.10763	2.84	5.75	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.050061	0.85682	D	0.000000	T	0.11153	0.0272	L	0.28054	0.825	0.47949	D	0.999554	P	0.38148	0.62	P	0.46339	0.513	T	0.17501	-1.0367	10	0.42905	T	0.14	.	7.1859	0.25799	0.0:0.17:0.0:0.83	.	378	Q13591	SEM5A_HUMAN	T	378	ENSP00000371936:K378T	ENSP00000371936:K378T	K	-	2	0	SEMA5A	9243519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.156000	0.42310	1.017000	0.39495	0.533000	0.62120	AAG	SEMA5A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000112902		0.577	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	-	0	36	0	T			9190519	-1	tier1	-	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	G	G	9190519	T	G	9190519	3	3	12	1	0	0	0	0	1	0	0	0	14082	1609	56	4	2143	4	SEMA5A	5	9190519	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	3725758	9190519	171724741	132	3235											
SPEF2	79925	genome.wustl.edu	37	chr5	35800171	35800171	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagacaccgtggaaggAgtctacagggccctcagtgt	10	6	12	13	1	2	1	1	0	1	1	2	3	2	3	3	3	1	0	3	3	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:35800171A>G	ENST00000356031.3	+	34	5086	c.4932A>G	c.(4930-4932)ggA>ggG	p.G1644G	SPEF2_ENST00000303129.4_Silent_p.G441G|SPEF2_ENST00000440995.2_Silent_p.G1639G|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1644					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCGTGGAAGGAGTCTACAGGG	0.463																																																	0													162	151	155					5																	35800171		1959	4148	6107	SO:0001819	synonymous_variant	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4932A>G	5.37:g.35800171A>G			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.G1644	ENST00000356031.3	37	c.4932	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.463	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	72	0	A	NM_144722		35800171	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	silent	50.63	39	40	SNP	0.634	G	G	35800171	A	G	35800171	2	3	12	1	0	0	0	0	0	0	0	1	15082	291	11	4		4	SPEF2	5	35800171	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	26609652	35800171	145115089	133	3236											
GZMA	3001	genome.wustl.edu	37	chr5	54403673	54403673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaataaccagggaagaGccaacaaaacagataatgct	19	5	7	10	0	1	2	1	0	0	2	1	3	1	3	2	1	5	1	2	1	7	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:54403673G>T	ENST00000274306.6	+	3	302	c.267G>T	c.(265-267)gaG>gaT	p.E89D		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	89	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|immune response (GO:0006955)|negative regulation of DNA binding (GO:0043392)|negative regulation of endodeoxyribonuclease activity (GO:0032078)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of apoptotic process (GO:0043065)|proteolysis involved in cellular protein catabolic process (GO:0051603)	extracellular region (GO:0005576)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCAGGGAAGAGCCAACAAAAC	0.418																																																	0													126	122	124					5																	54403673		2203	4300	6503	SO:0001583	missense	0				CCDS3965.1	5q11-q12	2008-07-18			ENSG00000145649	ENSG00000145649			4708	protein-coding gene	gene with protein product	"CTL tryptase", "Granzyme A (Cytotoxic T-lymphocyte-associated serine esterase-3; Hanukah factor serine protease)"	140050		HFSP, CTLA3		3262682, 3533635	Standard	NM_006144		Approved		uc003jpm.3	P12544	OTTHUMG00000097011	ENST00000274306.6:c.267G>T	5.37:g.54403673G>T	ENSP00000274306:p.Glu89Asp		A4PHN1|Q6IB36	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E89D	ENST00000274306.6	37	c.267	CCDS3965.1	5	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029875	0.35797	.	.	ENSG00000145649	ENST00000274306	T	0.42513	0.97	6.03	3.33	0.38152	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.154345	0.56097	D	0.000022	T	0.50718	0.1632	L	0.45051	1.395	0.29371	N	0.86401	D	0.69078	0.997	D	0.68039	0.955	T	0.48592	-0.9022	10	0.62326	D	0.03	.	8.8123	0.34974	0.3529:0.0:0.6471:0.0	.	89	P12544	GRAA_HUMAN	D	89	ENSP00000274306:E89D	ENSP00000274306:E89D	E	+	3	2	GZMA	54439430	0.190000	0.23276	0.652000	0.29579	0.003000	0.03518	0.354000	0.20146	0.449000	0.26747	-0.136000	0.14681	GAG	GZMA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000145649		0.418	GZMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMA	HGNC	protein_coding	OTTHUMT00000214100.2	-	0	56	0	G	NM_006144		54403673	1	tier1	-	no_errors	ENST00000274306	ensembl	human	known	74_37	missense	18.33	49	11	SNP	0.374	T	T	54403673	G	T	54403673	3	4	12	1	0	0	0	0	1	0	0	0	6942	962	34	3	277	3	GZMA	5	54403673	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	18603502	54403673	126511587	134	3237											
SKIV2L2	23517	genome.wustl.edu	37	chr5	54696074	54696074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcaggaagttcagaaacGttttcctgacggcatcccct	9	13	8	11	2	2	2	2	1	0	1	4	3	4	3	3	2	1	3	3	2	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:54696074G>A	ENST00000230640.5	+	21	2560	c.2306G>A	c.(2305-2307)cGt>cAt	p.R769H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R668H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	769					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GTTCAGAAACGTTTTCCTGAC	0.343																																					Melanoma(2;92 134 23744 29976 33782)												0													58	60	59					5																	54696074		2203	4300	6503	SO:0001583	missense	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.2306G>A	5.37:g.54696074G>A	ENSP00000230640:p.Arg769His		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R769H	ENST00000230640.5	37	c.2306	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875045	0.91664	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.35789	1.29;1.34	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	H	0.95079	3.62	0.80722	D	1	D;D	0.89917	1.0;0.985	D;P	0.72982	0.979;0.818	T	0.81940	-0.0703	10	0.87932	D	0	-26.6664	19.157	0.93516	0.0:0.0:1.0:0.0	.	668;769	F5H7E2;P42285	.;SK2L2_HUMAN	H	769;668	ENSP00000230640:R769H;ENSP00000442583:R668H	ENSP00000230640:R769H	R	+	2	0	SKIV2L2	54731831	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.259000	0.95561	2.525000	0.85131	0.655000	0.94253	CGT	SKIV2L2	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000039123		0.343	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	-	0	94	0	G			54696074	1	tier1	-	no_errors	ENST00000230640	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	A	A	54696074	G	A	54696074	3	1	12	1	0	0	0	0	1	0	0	0	14405	1145	40	1	2388	1	SKIV2L2	5	54696074	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	292401	54696074	126219186	135	3238											
HOMER1	9456	genome.wustl.edu	37	chr5	78746889	78746889	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcagcccactggccaaacTtctgagatgttttagtaaat	12	13	7	9	0	2	1	1	1	1	1	2	2	2	1	2	1	2	2	2	1	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:78746889T>G	ENST00000334082.6	-	3	1660	c.218A>C	c.(217-219)aAg>aCg	p.K73T	HOMER1_ENST00000508576.1_Missense_Mutation_p.K73T|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.K73T	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	73	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTGGCCAAACTTCTGAGATGT	0.373																																																	0													114	107	110					5																	78746889		1830	4087	5917	SO:0001583	missense	0			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.218A>C	5.37:g.78746889T>G	ENSP00000334382:p.Lys73Thr		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.K73T	ENST00000334082.6	37	c.218	CCDS43335.1	5	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582886	0.65992	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98666	-5.06;-5.06;-5.06	5.78	5.78	0.91487	EVH1 (3);Pleckstrin homology-type (1);	0.044570	0.85682	D	0.000000	D	0.98757	0.9582	L	0.52905	1.665	0.80722	D	1	P;P;D	0.89917	0.834;0.702;1.0	P;P;D	0.80764	0.743;0.669;0.994	D	0.99908	1.1189	10	0.87932	D	0	-5.3916	16.3971	0.83610	0.0:0.0:0.0:1.0	.	73;73;73	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	T	73	ENSP00000334382:K73T;ENSP00000426651:K73T;ENSP00000282260:K73T	ENSP00000282260:K73T	K	-	2	0	HOMER1	78782645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	2.330000	0.79161	0.533000	0.62120	AAG	HOMER1	-	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	ENSG00000152413		0.373	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOMER1	HGNC	protein_coding	OTTHUMT00000258856.1	-	0	106	0	T	NM_004272		78746889	-1	tier1	-	no_errors	ENST00000334082	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	G	G	78746889	T	G	78746889	3	3	12	1	0	0	0	0	1	0	0	0	7305	1609	56	4	874	4	HOMER1	5	78746889	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	24050815	78746889	102168371	136	3239											
VCAN	1462	genome.wustl.edu	37	chr5	82837805	82837805	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtgtggtgccttggctaAgtccacagacttctgagagg	8	10	14	9	0	1	2	0	1	1	2	2	3	2	2	2	4	1	1	2	4	1	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:82837805A>T	ENST00000265077.3	+	8	9548	c.8983A>T	c.(8983-8985)Agt>Tgt	p.S2995C	VCAN_ENST00000343200.5_Missense_Mutation_p.S2008C|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2995	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GCCTTGGCTAAGTCCACAGAC	0.502																																																	0													53	55	54					5																	82837805		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8983A>T	5.37:g.82837805A>T	ENSP00000265077:p.Ser2995Cys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.S2995C	ENST00000265077.3	37	c.8983	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	11.75	1.732087	0.30684	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.27402	1.67;1.67	5.64	0.354	0.16063	.	0.633338	0.15573	N	0.255355	T	0.33789	0.0875	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.69654	0.965;0.818	T	0.10222	-1.0639	10	0.54805	T	0.06	.	4.2337	0.10615	0.417:0.3381:0.2449:0.0	.	2008;2995	P13611-2;P13611	.;CSPG2_HUMAN	C	2995;2008	ENSP00000265077:S2995C;ENSP00000340062:S2008C	ENSP00000265077:S2995C	S	+	1	0	VCAN	82873561	0.035000	0.19736	0.068000	0.19968	0.005000	0.04900	0.759000	0.26461	0.065000	0.16485	0.533000	0.62120	AGT	VCAN	-	NULL	ENSG00000038427		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	43	0	A	NM_004385		82837805	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.000	T	T	82837805	A	T	82837805	3	4	12	1	0	0	0	0	1	0	0	0	17187	72	3	5	9009	5	VCAN	5	82837805	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	4090916	82837805	98077455	137	3240											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101816047	101816047	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggccagatgaaatatcgtaActcttttccaatgccaactt	13	12	6	10	1	1	2	0	1	1	1	3	2	2	2	3	1	3	1	3	1	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:101816047A>C	ENST00000506729.1	-	2	621	c.450T>G	c.(448-450)agT>agG	p.S150R	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S150R|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S150R|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S150R|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S150R|SLCO6A1_ENST00000514551.1_Splice_Site			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAATATCGTAACTCTTTTCCA	0.358																																																	0													127	128	128					5																	101816047		2203	4300	6503	SO:0001583	missense	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.450T>G	5.37:g.101816047A>C	ENSP00000421339:p.Ser150Arg		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Splice_Site	SNP	-	NULL	ENST00000506729.1	37	c.NULL	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	A	5.845	0.340035	0.11069	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	4.56	-1.63	0.08345	Major facilitator superfamily domain, general substrate transporter (1);	1.172060	0.06324	N	0.704955	D	0.86952	0.6057	M	0.78344	2.41	0.09310	N	1	D;D;D	0.71674	0.995;0.985;0.998	D;P;D	0.72075	0.933;0.831;0.976	T	0.72871	-0.4161	10	0.72032	D	0.01	.	4.5231	0.11969	0.453:0.1757:0.3713:0.0	.	150;150;150	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	R	150	ENSP00000421339:S150R;ENSP00000369135:S150R;ENSP00000373671:S150R;ENSP00000421990:S150R;ENSP00000369138:S150R	ENSP00000369135:S150R	S	-	3	2	SLCO6A1	101843946	0.035000	0.19736	0.019000	0.16419	0.017000	0.09413	-0.026000	0.12392	-0.201000	0.10284	0.533000	0.62120	AGT	SLCO6A1	-	-	ENSG00000205359		0.358	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	-	0	57	0	A	NM_173488		101816047	-1	tier1	-	no_errors	ENST00000514551	ensembl	human	known	74_37	splice_site	16.67	35	7	SNP	0.045	C	C	101816047	A	C	101816047	3	2	12	1	0	0	0	0	1	0	0	0	14777	40	2	4	1757	4	SLCO6A1	5	101816047	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	18978242	101816047	79099213	138	3241											
PRR16	51334	genome.wustl.edu	37	chr5	120021940	120021940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcctgtaaaaaccaatGgcacccttctacgaaatgga	15	8	6	12	1	1	0	0	0	1	0	2	2	2	1	4	2	2	2	4	2	7	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:120021940G>T	ENST00000407149.2	+	2	660	c.451G>T	c.(451-453)Ggc>Tgc	p.G151C	PRR16_ENST00000379551.2_Missense_Mutation_p.G128C|PRR16_ENST00000446965.1_Missense_Mutation_p.G81C|PRR16_ENST00000505123.1_Missense_Mutation_p.G81C			Q569H4	LARGN_HUMAN	proline rich 16	151	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AAAAACCAATGGCACCCTTCT	0.488																																																	0													82	73	76					5																	120021940		2203	4300	6503	SO:0001583	missense	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.451G>T	5.37:g.120021940G>T	ENSP00000385118:p.Gly151Cys		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	NULL	p.G151C	ENST00000407149.2	37	c.451		5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038277	0.75617	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.62793	-0.6779	9	.	.	.	-0.1381	18.6986	0.91611	0.0:0.0:1.0:0.0	.	151;128	Q569H4;Q569H4-3	PRR16_HUMAN;.	C	151;128;81;81;81	ENSP00000385118:G151C;ENSP00000368869:G128C;ENSP00000421256:G81C;ENSP00000423446:G81C;ENSP00000405491:G81C	.	G	+	1	0	PRR16	120049839	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.111000	0.94308	2.709000	0.92574	0.644000	0.83932	GGC	PRR16	-	NULL	ENSG00000184838		0.488	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1		0	48	0	G	NM_016644		120021940	1			no_errors	ENST00000407149	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	120021940	G	T	120021940	3	4	12	1	0	0	0	0	1	0	0	0	12631	1348	47	3	388	3	PRR16	5	120021940	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	18205893	120021940	60893320	139	3242											
CHSY3	337876	genome.wustl.edu	37	chr5	129520837	129520837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattctggccaagactccAgcaagcatattgagctgata	12	9	11	9	0	1	3	0	2	1	1	2	4	2	4	2	2	3	3	2	2	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:129520837A>G	ENST00000305031.4	+	3	2360	c.2002A>G	c.(2002-2004)Agc>Ggc	p.S668G		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	668					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCAAGACTCCAGCAAGCATAT	0.428																																																	0													66	65	65					5																	129520837		2203	4300	6503	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2002A>G	5.37:g.129520837A>G	ENSP00000302629:p.Ser668Gly		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.S668G	ENST00000305031.4	37	c.2002	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	A	1.025	-0.683699	0.03353	.	.	ENSG00000198108	ENST00000305031	T	0.15603	2.41	4.12	0.448	0.16614	.	1.059530	0.07314	N	0.876439	T	0.10465	0.0256	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40961	-0.9535	9	.	.	.	-0.6488	8.6462	0.34007	0.7761:0.0:0.2239:0.0	.	668	Q70JA7	CHSS3_HUMAN	G	668	ENSP00000302629:S668G	.	S	+	1	0	CHSY3	129548736	0.010000	0.17322	0.008000	0.14137	0.765000	0.43378	2.205000	0.42770	0.068000	0.16574	0.528000	0.53228	AGC	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.428	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	-	0	48	0	A	NM_175856		129520837	1	tier1	-	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.049	G	G	129520837	A	G	129520837	3	3	12	1	0	0	0	0	1	0	0	0	3420	188	7	4	2012	4	CHSY3	5	129520837	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	9498897	129520837	51394423	140	3243											
CXCL14	9547	genome.wustl.edu	37	chr5	134910319	134910319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgcttggtgctctgcagcTtggggtgcaggcagtgctcc	4	10	16	11	1	1	0	0	0	1	0	2	0	2	0	1	4	6	7	1	4	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:134910319T>C	ENST00000337225.5	-	3	727	c.263A>G	c.(262-264)aAg>aGg	p.K88R	CXCL14_ENST00000512158.1_Missense_Mutation_p.K76R|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	88					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCTGCAGCTTGGGGTGCAG	0.597																																																	0													175	133	147					5																	134910319		2203	4300	6503	SO:0001583	missense	0			AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"breast and kidney"	604186	"small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.263A>G	5.37:g.134910319T>C	ENSP00000337065:p.Lys88Arg		B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom	p.K88R	ENST00000337225.5	37	c.263	CCDS4188.1	5	.	.	.	.	.	.	.	.	.	.	T	16.30	3.083918	0.55861	.	.	ENSG00000145824	ENST00000337225;ENST00000512158	T;T	0.05580	3.42;3.42	5.59	5.59	0.84812	Chemokine interleukin-8-like domain (2);	0.148681	0.64402	D	0.000013	T	0.10723	0.0262	L	0.56769	1.78	0.48288	D	0.999625	P	0.47484	0.896	P	0.44394	0.448	T	0.11891	-1.0569	10	0.30854	T	0.27	-1.4611	14.3199	0.66479	0.0:0.0:0.0:1.0	.	88	O95715	CXL14_HUMAN	R	88;76	ENSP00000337065:K88R;ENSP00000423783:K76R	ENSP00000337065:K88R	K	-	2	0	CXCL14	134938218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.972000	0.56838	2.128000	0.65567	0.379000	0.24179	AAG	CXCL14	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom	ENSG00000145824		0.597	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL14	HGNC	protein_coding		-	0	87	0	T	NM_004887		134910319	-1	tier1	-	no_errors	ENST00000337225	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	C	C	134910319	T	C	134910319	3	2	12	1	0	0	0	0	1	0	0	0	4091	1609	56	4	80	4	CXCL14	5	134910319	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	5389482	134910319	46004941	141	3244											
PCDHB2	56133	genome.wustl.edu	37	chr5	140476060	140476060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaacgacaactcgcccttCgtgctgtacccgctgcagaa	9	7	9	16	4	0	1	0	0	0	1	2	2	0	1	3	0	5	4	3	0	4	2	rs17844377	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:140476060C>T	ENST00000194155.4	+	1	1834	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.731													C|||	293	0.0585064	0.0053	0.036	5008	,	,		17851	0.0784		0.0716	False		,,,				2504	0.1125																0								C		89,4245		1,87,2079	12	14	13		1686	1.5	1	5	dbSNP_123	13	626,7778		31,564,3607	no	coding-synonymous	PCDHB2	NM_018936.2		32,651,5686	TT,TC,CC		7.4488,2.0535,5.6131		562/799	140476060	715,12023	2167	4202	6369	SO:0001819	synonymous_variant	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1686C>T	5.37:g.140476060C>T			Q4KMU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F562	ENST00000194155.4	37	c.1686	CCDS4244.1	5																																																																																			PCDHB2	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000112852		0.731	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	-	0	204	0	C	NM_018936		140476060	1	tier1	rs17844377	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	15.92	131	25	SNP	0.623	T	T	140476060	C	T	140476060	2	4	12	1	0	0	0	0	0	0	0	1	11581	883	31	1		1	PCDHB2	5	140476060	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5565741	140476060	40439200	142	3245											
PCDHB6	56130	genome.wustl.edu	37	chr5	140529937	140529937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatcgattcagtattcCgtattggaggagacagaaag	13	11	11	6	2	2	3	1	1	1	2	4	6	3	4	1	2	0	2	1	2	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:140529937C>T	ENST00000231136.1	+	1	99	c.99C>T	c.(97-99)tcC>tcT	p.S33S	PCDHB6_ENST00000543635.1_Intron	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	33					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGTATTCCGTATTGGAGG	0.493																																																	0													158	159	159					5																	140529937		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.99C>T	5.37:g.140529937C>T			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S33	ENST00000231136.1	37	c.99	CCDS4248.1	5																																																																																			PCDHB6	-	pfam_Cadherin_N,superfamily_Cadherin-like	ENSG00000113211		0.493	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0	70	0	C	NM_018939		140529937	1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	10.71	50	6	SNP	0.007	T	T	140529937	C	T	140529937	2	4	12	1	0	0	0	0	0	0	0	1	11585	639	23	1		1	PCDHB6	5	140529937	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	53877	140529937	40385323	143	3246											
KCTD16	57528	genome.wustl.edu	37	chr5	143853371	143853371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagctctccccaggagacGgtcatctgtggtcccgtgac	6	8	12	15	2	3	2	1	1	2	1	5	3	4	2	4	3	1	1	4	3	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:143853371G>A	ENST00000507359.3	+	3	2072	c.981G>A	c.(979-981)acG>acA	p.T327T	KCTD16_ENST00000512467.1_Silent_p.T327T	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	327					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCCAGGAGACGGTCATCTGTG	0.587																																																	0													86	80	82					5																	143853371		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.981G>A	5.37:g.143853371G>A			Q9P2M9	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.T327	ENST00000507359.3	37	c.981	CCDS34260.1	5																																																																																			KCTD16	-	NULL	ENSG00000183775		0.587	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3	-	0	42	0	G	XM_098368		143853371	1	tier1	-	no_errors	ENST00000507359	ensembl	human	known	74_37	silent	20.83	19	5	SNP	0.003	A	A	143853371	G	A	143853371	2	1	12	1	0	0	0	0	0	0	0	1	8130	1103	39	1		1	KCTD16	5	143853371	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	3323434	143853371	37061889	144	3247											
RBM27	54439	genome.wustl.edu	37	chr5	145610441	145610441	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttccaattcttttggtCgaaacctaccaccaaagagg	11	11	7	12	1	2	1	0	0	2	1	4	2	3	1	4	2	2	1	4	2	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:145610441C>T	ENST00000265271.5	+	6	977	c.811C>T	c.(811-813)Cga>Tga	p.R271*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.R271*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	271					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R271*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTTTGGTCGAAACCTACC	0.413																																																	1	Substitution - Nonsense(1)	endometrium(1)											120	103	108					5																	145610441		1568	3582	5150	SO:0001587	stop_gained	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.811C>T	5.37:g.145610441C>T	ENSP00000265271:p.Arg271*		Q8IYW9	Nonsense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R271*	ENST00000265271.5	37	c.811	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.998832	0.97990	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.56	4.62	0.57501	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4267	11.1132	0.48246	0.408:0.592:0.0:0.0	.	.	.	.	X	271	.	ENSP00000265271:R271X	R	+	1	2	RBM27	145590634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.615000	0.61190	2.614000	0.88457	0.563000	0.77884	CGA	RBM27	-	NULL	ENSG00000091009		0.413	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0	48	0	C	XM_291128		145610441	1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	nonsense	28.57	25	10	SNP	1.000	T	T	145610441	C	T	145610441	4	4	12	1	0	0	0	0	0	1	0	0	13172	876	31	1	833	1	RBM27	5	145610441	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1757070	145610441	35304819	145	3248											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147021269	147021269	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataactttgatttcttattAccttaattggcttggaactt	10	19	6	6	0	1	1	0	1	1	0	1	3	1	2	1	2	3	1	1	2	5	9			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:147021269A>G	ENST00000265272.5	-	8	1749		c.e8+1		JAKMIP2_ENST00000333010.6_Splice_Site|JAKMIP2_ENST00000507386.1_Splice_Site	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2							Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCTTATTACCTTAATTGG	0.403																																																	0													187	173	178					5																	147021269		2203	4299	6502	SO:0001630	splice_region_variant	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1281+1T>C	5.37:g.147021269A>G			A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Splice_Site	SNP	-	e7+2	ENST00000265272.5	37	c.1281+2	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193157	0.78902	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1533	0.81636	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JAKMIP2	147001462	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.856000	0.86956	2.279000	0.76181	0.533000	0.62120	.	JAKMIP2	-	-	ENSG00000176049		0.403	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	87	0	A	NM_014790	Intron	147021269	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	splice_site	10.42	43	5	SNP	1.000	G	G	147021269	A	G	147021269	5	3	12	1	0	0	0	0	0	0	1	0	7968	405	14	4	1205	4	JAKMIP2	5	147021269	Splice_Site	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1410828	147021269	33893991	146	3249											
CSF1R	1436	genome.wustl.edu	37	chr5	149447806	149447808	+	In_Frame_Del	DEL	AGC	AGC	-																															acttgtacaatagcagcaggAgcagcagcagcagcaaggcc																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:149447806_149447808delAGC	ENST00000286301.3	-	11	1887_1889	c.1596_1598delGCT	c.(1594-1599)ctgctc>ctc	p.532_533LL>L	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	532					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	Tagcagcaggagcagcagcagca	0.596																																																	0																																										SO:0001651	inframe_deletion	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1596_1598delGCT	5.37:g.149447815_149447817delAGC	ENSP00000286301:p.Leu537del		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	In_Frame_Del	DEL	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L536in_frame_del	ENST00000286301.3	37	c.1598_1596	CCDS4302.1	5																																																																																			CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.596	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0	47	0	AGC	NM_005211		149447808	-1	tier1		no_errors	ENST00000286301	ensembl	human	known	74_37	in_frame_del	10.00	27	3	DEL	0.921:0.978:0.978	-	-	149447808	AGC	-	149447806	7	5	12	1	0	1	0	1	0	0	0	0	3941	304	11	0	1368	0	CSF1R	5	149447806	In_Frame_Del	DEL	AGC	TCGA-2H-A9GR-01A-12D-A37C-09	2426537	149447806	31467454	147	3250											
FAT2	2196	genome.wustl.edu	37	chr5	150901022	150901022	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaacccccactgaatgcTccatctccttggctgagtga	8	11	8	14	0	2	4	0	4	2	0	4	4	3	4	4	1	2	2	4	1	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:150901022T>C	ENST00000261800.5	-	18	11144	c.11132A>G	c.(11131-11133)gAg>gGg	p.E3711G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3711					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGAATGCTCCATCTCCTT	0.557																																																	0													80	79	79					5																	150901022		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11132A>G	5.37:g.150901022T>C	ENSP00000261800:p.Glu3711Gly		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.E3711G	ENST00000261800.5	37	c.11132	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421138	0.83559	.	.	ENSG00000086570	ENST00000261800	T	0.74315	-0.83	5.76	4.58	0.56647	.	0.111959	0.41605	D	0.000846	T	0.80899	0.4712	M	0.62723	1.935	0.53688	D	0.999975	D;D	0.65815	0.995;0.995	P;P	0.57425	0.82;0.82	T	0.82129	-0.0610	10	0.72032	D	0.01	.	13.082	0.59119	0.0:0.0:0.1342:0.8658	.	3711;902	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	G	3711	ENSP00000261800:E3711G	ENSP00000261800:E3711G	E	-	2	0	FAT2	150881215	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.206000	0.65192	0.990000	0.38787	0.459000	0.35465	GAG	FAT2	-	NULL	ENSG00000086570		0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	58	0	T	NM_001447		150901022	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	150901022	T	C	150901022	3	2	12	1	0	0	0	0	1	0	0	0	5712	1551	54	4	1941	4	FAT2	5	150901022	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1453216	150901022	30014238	148	3251											
RANBP17	64901	genome.wustl.edu	37	chr5	170722912	170722912	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcagtgaactgagagcaAgtttgataaacagccagccc	14	9	9	9	0	1	3	1	3	0	1	1	4	1	3	2	0	5	2	2	0	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:170722912A>C	ENST00000523189.1	+	27	3228	c.3064A>C	c.(3064-3066)Agt>Cgt	p.S1022R	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1022					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTGAGAGCAAGTTTGATAAA	0.532			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													125	119	121					5																	170722912		2203	4300	6503	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.3064A>C	5.37:g.170722912A>C	ENSP00000427975:p.Ser1022Arg		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.S1022R	ENST00000523189.1	37	c.3064	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	A	3.143	-0.175873	0.06421	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.23147	1.92	5.85	2.17	0.27698	Armadillo-like helical (1);	0.310038	0.32416	N	0.006132	T	0.18299	0.0439	L	0.39245	1.2	0.20403	N	0.999906	B	0.12013	0.005	B	0.14023	0.01	T	0.24440	-1.0160	10	0.21540	T	0.41	-1.2175	9.2114	0.37320	0.7225:0.0:0.2775:0.0	.	1022	Q9H2T7	RBP17_HUMAN	R	1022;452	ENSP00000427975:S1022R	ENSP00000427975:S1022R	S	+	1	0	RANBP17	170655517	1.000000	0.71417	0.090000	0.20809	0.135000	0.20990	3.152000	0.50677	0.141000	0.18875	0.533000	0.62120	AGT	RANBP17	-	NULL	ENSG00000204764		0.532	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0	65	0	A	NM_022897		170722912	1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.382	C	C	170722912	A	C	170722912	3	2	12	1	0	0	0	0	1	0	0	0	13072	72	3	4	3170	4	RANBP17	5	170722912	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	19821890	170722912	10192348	149	3252											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178554969	178554969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccctcacctccgccacAgggcttggagcacggagacc	8	4	11	18	2	1	1	1	0	0	1	2	4	2	2	6	3	1	2	6	3	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:178554969A>G	ENST00000251582.7	-	17	2709	c.2608T>C	c.(2608-2610)Tgt>Cgt	p.C870R		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	870	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCTCCGCCACAGGGCTTGGAG	0.617																																																	0													143	125	131					5																	178554969		2203	4300	6503	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2608T>C	5.37:g.178554969A>G	ENSP00000251582:p.Cys870Arg			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.C870R	ENST00000251582.7	37	c.2608	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	A	20.3	3.963121	0.74016	.	.	ENSG00000087116	ENST00000251582	D	0.96491	-4.03	4.55	4.55	0.56014	.	0.104877	0.43747	D	0.000528	D	0.98661	0.9551	H	0.98769	4.325	0.80722	D	1	P	0.52577	0.954	P	0.57911	0.829	D	0.99297	1.0900	10	0.87932	D	0	.	13.3656	0.60682	1.0:0.0:0.0:0.0	.	870	O95450	ATS2_HUMAN	R	870	ENSP00000251582:C870R	ENSP00000251582:C870R	C	-	1	0	ADAMTS2	178487575	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.708000	0.91372	1.811000	0.52892	0.379000	0.24179	TGT	ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000087116		0.617	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	55	0	A	NM_014244		178554969	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	G	G	178554969	A	G	178554969	3	3	12	1	0	0	0	0	1	0	0	0	265	188	7	4	1051	4	ADAMTS2	5	178554969	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	7832057	178554969	2360291	150	3253											
FLT4	2324	genome.wustl.edu	37	chr5	180048197	180048197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgcatctccagcgagtcGctcacgttcaccaggaggtc	8	8	10	15	3	3	0	2	0	1	0	6	2	3	1	2	2	2	3	2	2	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr5:180048197G>A	ENST00000261937.6	-	14	2154	c.2076C>T	c.(2074-2076)agC>agT	p.S692S	FLT4_ENST00000393347.3_Silent_p.S692S|FLT4_ENST00000502649.1_Silent_p.S692S|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	692	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGCGAGTCGCTCACGTTCA	0.632																																					Colon(97;1075 1466 27033 27547 35871)												0													32	34	34					5																	180048197		2203	4298	6501	SO:0001819	synonymous_variant	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2076C>T	5.37:g.180048197G>A			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.S692	ENST00000261937.6	37	c.2076	CCDS4457.1	5																																																																																			FLT4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000037280		0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4		0	94	0	G			180048197	-1			no_errors	ENST00000261937	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.976	A	A	180048197	G	A	180048197	2	1	12	1	0	0	0	0	0	0	0	1	5966	1078	38	1		1	FLT4	5	180048197	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1493228	180048197	867063	151	3254											
GCM2	9247	genome.wustl.edu	37	chr6	10875152	10875152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaatgaccactgctgtcTtgattttcttctgcctagaa	9	15	7	10	0	3	4	0	3	3	1	3	4	3	4	2	0	2	1	2	0	3	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:10875152T>A	ENST00000379491.4	-	5	744	c.597A>T	c.(595-597)caA>caT	p.Q199H	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	199					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CACTGCTGTCTTGATTTTCTT	0.418																																																	0													89	85	87					6																	10875152		2203	4300	6503	SO:0001583	missense	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.597A>T	6.37:g.10875152T>A	ENSP00000368805:p.Gln199His		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.Q199H	ENST00000379491.4	37	c.597	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	T	9.171	1.021034	0.19433	.	.	ENSG00000124827	ENST00000379491	T	0.68903	-0.36	5.72	2.11	0.27256	.	0.591630	0.19001	N	0.125359	T	0.25975	0.0633	L	0.28694	0.88	0.80722	D	1	B	0.18741	0.03	B	0.15052	0.012	T	0.08269	-1.0730	10	0.18710	T	0.47	-3.4057	3.8263	0.08855	0.2459:0.2491:0.0:0.505	.	199	O75603	GCM2_HUMAN	H	199	ENSP00000368805:Q199H	ENSP00000368805:Q199H	Q	-	3	2	GCM2	10983138	1.000000	0.71417	0.109000	0.21407	0.324000	0.28378	0.696000	0.25541	0.134000	0.18681	0.482000	0.46254	CAA	GCM2	-	NULL	ENSG00000124827		0.418	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1		0	25	0	T			10875152	-1			no_errors	ENST00000379491	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.985	A	A	10875152	T	A	10875152	3	1	12	1	0	0	0	0	1	0	0	0	6323	1606	56	5	927	5	GCM2	6	10875152	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09		10875152	160239915	152	3255											
TINAG	27283	genome.wustl.edu	37	chr6	54214543	54214543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcatgctacccactttTcaaagaccaaaatgctacca	14	8	4	15	1	1	1	1	0	0	1	1	1	1	1	4	0	4	3	4	0	5	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:54214543T>C	ENST00000259782.4	+	7	1025	c.929T>C	c.(928-930)tTc>tCc	p.F310S		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	310					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TACCCACTTTTCAAAGACCAA	0.428																																																	0													145	135	139					6																	54214543		2203	4300	6503	SO:0001583	missense	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.929T>C	6.37:g.54214543T>C	ENSP00000259782:p.Phe310Ser		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.F310S	ENST00000259782.4	37	c.929	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	T	9.690	1.151756	0.21371	.	.	ENSG00000137251	ENST00000339741;ENST00000259782	D	0.86230	-2.09	5.87	2.23	0.28157	Peptidase C1A, papain C-terminal (2);	0.152899	0.47455	N	0.000239	T	0.46229	0.1382	N	0.01086	-1.025	0.80722	D	1	P	0.42785	0.79	B	0.41332	0.354	T	0.53107	-0.8485	10	0.16420	T	0.52	.	8.2517	0.31730	0.0:0.2319:0.0:0.7681	.	310	Q9UJW2	TINAG_HUMAN	S	169;310	ENSP00000259782:F310S	ENSP00000259782:F310S	F	+	2	0	TINAG	54322502	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	1.547000	0.36190	0.478000	0.27488	-0.346000	0.07831	TTC	TINAG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000137251		0.428	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	-	0	30	0	T	NM_014464		54214543	1	tier1	-	no_errors	ENST00000259782	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	C	C	54214543	T	C	54214543	3	2	12	1	0	0	0	0	1	0	0	0	15968	1783	62	4	955	4	TINAG	6	54214543	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	43339391	54214543	116900524	153	3256											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62604553	62604553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttacatattcttcataaGcttcatgggctggaggagga	11	13	10	7	0	3	0	2	0	1	0	3	3	3	3	0	4	3	2	0	4	4	7	rs145043169		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:62604553G>T	ENST00000281156.4	-	6	1075	c.797C>A	c.(796-798)gCt>gAt	p.A266D		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	266					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.A266V(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCTTCATAAGCTTCATGGGC	0.468																																																	2	Substitution - Missense(2)	skin(2)											72	74	73					6																	62604553		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.797C>A	6.37:g.62604553G>T	ENSP00000281156:p.Ala266Asp		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.A266D	ENST00000281156.4	37	c.797	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246484	0.39697	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.45668	0.89	5.82	4.01	0.46588	.	0.425442	0.26650	N	0.023209	T	0.13756	0.0333	L	0.29908	0.895	0.22081	N	0.999377	B	0.20052	0.041	B	0.23018	0.043	T	0.16719	-1.0393	10	0.62326	D	0.03	-3.8705	7.8954	0.29704	0.0651:0.1334:0.6837:0.1179	.	266	Q5VWX1	KHDR2_HUMAN	D	266	ENSP00000281156:A266D	ENSP00000281156:A266D	A	-	2	0	KHDRBS2	62662512	0.273000	0.24181	0.160000	0.22671	0.984000	0.73092	2.990000	0.49401	0.758000	0.33059	0.655000	0.94253	GCT	KHDRBS2	-	NULL	ENSG00000112232		0.468	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2		0	57	0	G	NM_152688		62604553	-1			no_errors	ENST00000281156	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.468	T	T	62604553	G	T	62604553	3	4	12	1	0	0	0	0	1	0	0	0	8174	971	34	3	268	3	KHDRBS2	6	62604553	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	8390010	62604553	108510514	154	3257											
PTP4A1	7803	genome.wustl.edu	37	chr6	64289213	64289213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggtggaatgaaatacgaAgatgcagtacaattcataag	18	8	11	4	1	1	2	1	1	0	1	1	5	1	3	0	2	3	2	0	2	8	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:64289213A>C	ENST00000370651.3	+	5	1534	c.381A>C	c.(379-381)gaA>gaC	p.E127D	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	127	Interaction with ATF5. {ECO:0000250}.|Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			TGAAATACGAAGATGCAGTAC	0.328																																					Pancreas(91;1019 1502 28028 38110 51645)												0													123	114	117					6																	64289213		2203	4299	6502	SO:0001583	missense	0			U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.381A>C	6.37:g.64289213A>C	ENSP00000359685:p.Glu127Asp		B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.E127D	ENST00000370651.3	37	c.381	CCDS4965.1	6	.	.	.	.	.	.	.	.	.	.	A	17.69	3.450743	0.63290	.	.	ENSG00000112245	ENST00000370651	D	0.85702	-2.02	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	M	0.66297	2.02	0.80722	D	1	B	0.21821	0.061	B	0.27608	0.081	T	0.79783	-0.1658	10	0.62326	D	0.03	-42.1022	16.4221	0.83766	1.0:0.0:0.0:0.0	.	127	Q93096	TP4A1_HUMAN	D	127	ENSP00000359685:E127D	ENSP00000359685:E127D	E	+	3	2	PTP4A1	64347172	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.325000	0.72901	2.283000	0.76528	0.477000	0.44152	GAA	PTP4A1	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	ENSG00000112245		0.328	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A1	HGNC	protein_coding	OTTHUMT00000041083.2	-	0	64	0	A			64289213	1	tier1	-	no_errors	ENST00000370651	ensembl	human	known	74_37	missense	11.59	61	8	SNP	1.000	C	C	64289213	A	C	64289213	3	2	12	1	0	0	0	0	1	0	0	0	12813	69	3	4	395	4	PTP4A1	6	64289213	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1684660	64289213	106825854	155	3258											
EYS	346007	genome.wustl.edu	37	chr6	65301485	65301485	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatgcttctaattactgaAgtcgttggggtagcagataa	12	12	12	5	1	1	2	0	1	1	1	2	3	1	3	0	3	3	4	0	3	6	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:65301485A>C	ENST00000370621.3	-	26	4801	c.4275T>G	c.(4273-4275)acT>acG	p.T1425T	EYS_ENST00000370616.2_Silent_p.T1425T|EYS_ENST00000503581.1_Silent_p.T1425T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1425					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAATTACTGAAGTCGTTGGGG	0.398																																																	0													61	57	58					6																	65301485		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4275T>G	6.37:g.65301485A>C			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T1425	ENST00000370621.3	37	c.4275		6																																																																																			EYS	-	NULL	ENSG00000188107		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	39	0	A	XM_294050		65301485	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.997	C	C	65301485	A	C	65301485	2	2	12	1	0	0	0	0	0	0	0	1	5348	59	3	4		4	EYS	6	65301485	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1012272	65301485	105813582	156	3259											
BAI3	577	genome.wustl.edu	37	chr6	69728321	69728321	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttaatgcaggtgattgaAgattttatacacattgttgg	12	15	11	3	0	0	3	0	2	0	1	0	4	0	3	0	2	2	3	0	2	4	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:69728321A>C	ENST00000370598.1	+	13	2858	c.2037A>C	c.(2035-2037)gaA>gaC	p.E679D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	679					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGTGATTGAAGATTTTATAC	0.318																																																	0													136	144	141					6																	69728321		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2037A>C	6.37:g.69728321A>C	ENSP00000359630:p.Glu679Asp		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E679D	ENST00000370598.1	37	c.2037	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680948	0.88542	.	.	ENSG00000135298	ENST00000370598	T	0.39056	1.1	6.08	6.08	0.98989	Domain of unknown function DUF3497 (1);	0.109200	0.64402	D	0.000011	T	0.57330	0.2046	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61997	-0.6947	10	0.87932	D	0	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	679	O60242	BAI3_HUMAN	D	679	ENSP00000359630:E679D	ENSP00000359630:E679D	E	+	3	2	BAI3	69785042	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.906000	0.63293	2.333000	0.79357	0.482000	0.46254	GAA	BAI3	-	pfam_DUF3497	ENSG00000135298		0.318	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	73	0	A			69728321	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	C	C	69728321	A	C	69728321	3	2	12	1	0	0	0	0	1	0	0	0	1301	69	3	4	2079	4	BAI3	6	69728321	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	4426836	69728321	101386746	157	3260											
LMBRD1	55788	genome.wustl.edu	37	chr6	70423564	70423564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacgcagagcgccacaaaaTtttgtccaccagctgttttc	10	10	9	12	2	0	1	0	0	0	1	2	2	1	2	3	1	2	3	3	1	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:70423564T>G	ENST00000370577.3	-	9	1117	c.888A>C	c.(886-888)aaA>aaC	p.K296N	LMBRD1_ENST00000370570.1_Missense_Mutation_p.K223N	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	296					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CGCCACAAAATTTTGTCCACC	0.398																																																	0													133	133	133					6																	70423564		2203	4300	6503	SO:0001583	missense	0			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.888A>C	6.37:g.70423564T>G	ENSP00000359609:p.Lys296Asn		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.K296N	ENST00000370577.3	37	c.888	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	T	19.49	3.836971	0.71373	.	.	ENSG00000168216	ENST00000370577;ENST00000370570	T;T	0.27890	1.64;1.65	5.78	3.42	0.39159	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.84773	2.715	0.58432	D	0.999993	D	0.89917	1.0	D	0.71414	0.973	T	0.38351	-0.9665	10	0.32370	T	0.25	-15.347	9.5637	0.39385	0.0:0.2576:0.0:0.7424	.	296	Q9NUN5	LMBD1_HUMAN	N	296;223	ENSP00000359609:K296N;ENSP00000359602:K223N	ENSP00000359602:K223N	K	-	3	2	LMBRD1	70480285	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.927000	0.28818	0.556000	0.29098	0.482000	0.46254	AAA	LMBRD1	-	NULL	ENSG00000168216		0.398	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	-	0	72	0	T	NM_018368		70423564	-1	tier1	-	no_errors	ENST00000370577	ensembl	human	known	74_37	missense	16.48	76	15	SNP	1.000	G	G	70423564	T	G	70423564	3	3	12	1	0	0	0	0	1	0	0	0	8872	1490	52	4	766	4	LMBRD1	6	70423564	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	695243	70423564	100691503	158	3261											
RIMS1	22999	genome.wustl.edu	37	chr6	73108705	73108705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatggggcctgtatagccaAgaagaagacaagaattgcac	17	6	11	7	0	0	4	0	0	0	4	0	4	0	4	2	2	2	2	2	2	8	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:73108705A>G	ENST00000521978.1	+	33	4769	c.4769A>G	c.(4768-4770)aAg>aGg	p.K1590R	RIMS1_ENST00000491071.2_Missense_Mutation_p.K1379R|RIMS1_ENST00000520567.1_Missense_Mutation_p.K1240R|RIMS1_ENST00000538414.1_Missense_Mutation_p.K396R|RIMS1_ENST00000348717.5_Missense_Mutation_p.K1373R|RIMS1_ENST00000517960.1_Missense_Mutation_p.K1373R|RIMS1_ENST00000523963.1_Missense_Mutation_p.K715R|RIMS1_ENST00000517827.1_Missense_Mutation_p.K724R|RIMS1_ENST00000264839.7_Missense_Mutation_p.K1439R|RIMS1_ENST00000414192.2_Missense_Mutation_p.K117R|RIMS1_ENST00000401910.3_Missense_Mutation_p.K910R|RIMS1_ENST00000518273.1_Missense_Mutation_p.K1269R|RIMS1_ENST00000425662.2_Missense_Mutation_p.K658R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000522291.1_Missense_Mutation_p.K1189R	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1590	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGTATAGCCAAGAAGAAGACA	0.343																																																	0													106	103	104					6																	73108705		1822	4085	5907	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4769A>G	6.37:g.73108705A>G	ENSP00000428417:p.Lys1590Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1590R	ENST00000521978.1	37	c.4769	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	29.4|29.4	5.006352|5.006352	0.93287|0.93287	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000522211	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.70282|.	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47|.	5.37|5.37	5.37|5.37	0.77165|0.77165	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.72653|0.72653	0.3487|0.3487	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.965;0.999;0.988;0.999;0.978;1.0;0.992;1.0;0.978;0.992;0.974;0.997;0.99|.	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.93;1.0;0.992;0.992;0.913;0.999;0.92;0.999;0.913;0.946;0.965;0.98;0.976|.	T|T	0.75966|0.75966	-0.3131|-0.3131	10|5	0.87932|.	D|.	0|.	-30.3756|-30.3756	15.6586|15.6586	0.77162|0.77162	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	214;396;724;715;1439;910;1189;493;1269;1373;666;1379;1590|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.	R|G	1379;1439;1379;1373;1269;1189;1439;1373;1269;1240;1189;1590;910;715;658;724;638;396;117|508	ENSP00000430101:K1379R;ENSP00000275037:K1373R;ENSP00000264839:K1439R;ENSP00000429959:K1373R;ENSP00000430408:K1269R;ENSP00000430502:K1240R;ENSP00000430932:K1189R;ENSP00000428417:K1590R;ENSP00000385649:K910R;ENSP00000428328:K715R;ENSP00000411235:K658R;ENSP00000428367:K724R;ENSP00000359448:K638R;ENSP00000439730:K396R;ENSP00000402273:K117R|.	ENSP00000264839:K1439R|.	K|R	+|+	2|1	0|2	RIMS1|RIMS1	73165426|73165426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	9.212000|9.212000	0.95126|0.95126	2.157000|2.157000	0.67596|0.67596	0.482000|0.482000	0.46254|0.46254	AAG|AGA	RIMS1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000079841		0.343	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	77	0	A			73108705	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	G	G	73108705	A	G	73108705	3	3	12	1	0	0	0	0	1	0	0	0	13412	72	3	4	5062	4	RIMS1	6	73108705	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2685141	73108705	98006362	159	3262											
COL12A1	1303	genome.wustl.edu	37	chr6	75841699	75841699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggagaatacacaacgCgatattgcagcacaggtcct	14	6	9	12	2	0	1	0	0	0	1	1	3	1	1	2	2	4	2	2	2	4	3	rs199747984		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:75841699C>T	ENST00000322507.8	-	35	6203	c.5894G>A	c.(5893-5895)cGc>cAc	p.R1965H	COL12A1_ENST00000416123.2_Missense_Mutation_p.R1965H|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1965H|COL12A1_ENST00000345356.6_Missense_Mutation_p.R801H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1965	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.R1965H(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATACACAACGCGATATTGCAG	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											136	133	134					6																	75841699		2022	4182	6204	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5894G>A	6.37:g.75841699C>T	ENSP00000325146:p.Arg1965His		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.R1965H	ENST00000322507.8	37	c.5894	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405176	0.62288	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.165364	0.39341	N	0.001394	T	0.72558	0.3475	M	0.82517	2.595	0.43756	D	0.996268	D;D	0.89917	1.0;1.0	D;D	0.72075	0.949;0.976	T	0.74520	-0.3638	10	0.56958	D	0.05	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	801;1965	Q99715-2;Q99715	.;COCA1_HUMAN	H	1965;1965;801;1965;1965	ENSP00000325146:R1965H;ENSP00000305147:R801H;ENSP00000412864:R1965H;ENSP00000421216:R1965H	ENSP00000325146:R1965H	R	-	2	0	COL12A1	75898419	0.998000	0.40836	0.593000	0.28771	0.014000	0.08584	4.695000	0.61767	2.941000	0.99782	0.655000	0.94253	CGC	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	54	0	C	NM_004370		75841699	-1	tier1	rs199747984	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	30.77	35	16	SNP	0.878	T	T	75841699	C	T	75841699	3	4	12	1	0	0	0	0	1	0	0	0	3676	768	27	1	3425	1	COL12A1	6	75841699	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2732994	75841699	95273368	160	3263											
FILIP1	27145	genome.wustl.edu	37	chr6	76023058	76023058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactcataatatgattttcTtcctggaaggatttccgtat	10	18	6	7	1	2	1	1	1	1	0	4	3	4	3	2	2	1	1	2	2	5	8			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:76023058T>G	ENST00000237172.7	-	5	2820	c.2490A>C	c.(2488-2490)gaA>gaC	p.E830D	FILIP1_ENST00000370020.1_Missense_Mutation_p.E731D|FILIP1_ENST00000393004.2_Missense_Mutation_p.E830D|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	830										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TATGATTTTCTTCCTGGAAGG	0.463																																																	0													143	157	153					6																	76023058		2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2490A>C	6.37:g.76023058T>G	ENSP00000237172:p.Glu830Asp		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.E830D	ENST00000237172.7	37	c.2490	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362025	0.41902	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.20881	2.04;2.04;2.06	5.66	0.0734	0.14390	.	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	L	0.54323	1.7	0.50632	D	0.999887	D;D;D	0.76494	0.999;0.995;0.997	D;D;D	0.78314	0.991;0.93;0.968	T	0.07751	-1.0756	10	0.15499	T	0.54	-26.0741	10.3095	0.43699	0.0:0.7042:0.0:0.2958	.	830;830;830	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	D	830;830;731	ENSP00000376728:E830D;ENSP00000237172:E830D;ENSP00000359037:E731D	ENSP00000237172:E830D	E	-	3	2	FILIP1	76079778	0.330000	0.24705	0.999000	0.59377	0.992000	0.81027	-0.291000	0.08343	0.023000	0.15187	0.460000	0.39030	GAA	FILIP1	-	NULL	ENSG00000118407		0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0	66	0	T	XM_029179		76023058	-1	tier1	-	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	G	G	76023058	T	G	76023058	3	3	12	1	0	0	0	0	1	0	0	0	5916	1606	56	4	1159	4	FILIP1	6	76023058	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	181359	76023058	95092009	161	3264											
MAP3K7	6885	genome.wustl.edu	37	chr6	91246095	91246095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacagtcaagtcttggatGgatctacgtcttggctgtcc	7	14	11	9	1	4	0	1	0	3	0	5	2	5	2	1	3	2	2	1	3	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:91246095G>A	ENST00000369329.3	-	13	1478	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_Silent_p.S412S|MAP3K7_ENST00000369320.1_Silent_p.S93S|MAP3K7_ENST00000369325.3_Silent_p.S439S|MAP3K7_ENST00000369332.3_Silent_p.S412S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	439					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGTCTTGGATGGATCTACGTC	0.353																																																	0													113	106	108					6																	91246095		2203	4300	6503	SO:0001819	synonymous_variant	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1317C>T	6.37:g.91246095G>A			B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Silent	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S439	ENST00000369329.3	37	c.1317	CCDS5028.1	6																																																																																			MAP3K7	-	pirsf_MAPKKK7	ENSG00000135341		0.353	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1		0	46	0	G	NM_145331		91246095	-1			no_errors	ENST00000369329	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.998	A	A	91246095	G	A	91246095	2	1	12	1	0	0	0	0	0	0	0	1	9293	1335	47	3		3	MAP3K7	6	91246095	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	15223037	91246095	79868972	162	3265											
FUT9	10690	genome.wustl.edu	37	chr6	96651507	96651507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctgactctgacttaccGccgtgattcagatatccaag	11	11	7	12	2	2	4	1	3	1	1	3	4	3	4	4	0	2	0	4	0	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:96651507G>T	ENST00000302103.5	+	3	802	c.476G>T	c.(475-477)cGc>cTc	p.R159L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	159					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.R159H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGACTTACCGCCGTGATTCA	0.458																																					Melanoma(98;1369 1476 6592 22940 26587)												1	Substitution - Missense(1)	large_intestine(1)											69	65	66					6																	96651507		2203	4300	6503	SO:0001583	missense	0			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.476G>T	6.37:g.96651507G>T	ENSP00000302599:p.Arg159Leu		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R159L	ENST00000302103.5	37	c.476	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368946	0.61624	.	.	ENSG00000172461	ENST00000302103	T	0.39787	1.06	5.3	5.3	0.74995	.	0.050188	0.85682	D	0.000000	T	0.66790	0.2825	M	0.88842	2.985	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.72789	-0.4187	10	0.66056	D	0.02	-11.0367	18.3049	0.90177	0.0:0.0:1.0:0.0	.	159	Q9Y231	FUT9_HUMAN	L	159	ENSP00000302599:R159L	ENSP00000302599:R159L	R	+	2	0	FUT9	96758228	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.499000	0.81566	2.643000	0.89663	0.655000	0.94253	CGC	FUT9	-	pfam_Glyco_trans_10	ENSG00000172461		0.458	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2		0	38	0	G	NM_006581		96651507	1			no_errors	ENST00000302103	ensembl	human	known	74_37	missense	5.00	37	2	SNP	1.000	T	T	96651507	G	T	96651507	3	4	12	1	0	0	0	0	1	0	0	0	6135	1087	38	2	478	2	FUT9	6	96651507	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	5405412	96651507	74463560	163	3266											
KLHL32	114792	genome.wustl.edu	37	chr6	97533159	97533159	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacgcttccctattgcctgcTtcaggaggtgctgaagagcg	8	10	12	11	2	1	2	1	1	0	1	2	3	2	3	2	2	5	3	2	2	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:97533159T>G	ENST00000369261.4	+	6	932	c.569T>G	c.(568-570)cTt>cGt	p.L190R	KLHL32_ENST00000539200.1_Missense_Mutation_p.L121R|KLHL32_ENST00000536676.1_Missense_Mutation_p.L154R|KLHL32_ENST00000544166.1_Intron	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	190										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TATTGCCTGCTTCAGGAGGTG	0.522																																																	0													75	74	74					6																	97533159		2203	4300	6503	SO:0001583	missense	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.569T>G	6.37:g.97533159T>G	ENSP00000358265:p.Leu190Arg		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L190R	ENST00000369261.4	37	c.569	CCDS5038.1	6	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524383	0.85600	.	.	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000539200;ENST00000447886	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	6.06	6.06	0.98353	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	M	0.87827	2.91	0.80722	D	1	D;D;D;P	0.76494	0.996;0.973;0.999;0.879	D;P;D;P	0.71414	0.953;0.84;0.973;0.745	D	0.89949	0.4078	10	0.87932	D	0	.	16.6154	0.84909	0.0:0.0:0.0:1.0	.	121;154;190;190	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	R	116;190;154;121;86	ENSP00000358265:L190R;ENSP00000440382:L154R;ENSP00000441527:L121R;ENSP00000389310:L86R	ENSP00000358259:L116R	L	+	2	0	KLHL32	97639880	1.000000	0.71417	0.985000	0.45067	0.924000	0.55760	7.500000	0.81588	2.315000	0.78130	0.533000	0.62120	CTT	KLHL32	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000186231		0.522	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1	-	0	56	0	T	NM_052904		97533159	1	tier1	-	no_errors	ENST00000369261	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	G	G	97533159	T	G	97533159	3	3	12	1	0	0	0	0	1	0	0	0	8413	1609	56	4	587	4	KLHL32	6	97533159	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	881652	97533159	73581908	164	3267											
POU3F2	5454	genome.wustl.edu	37	chr6	99283090	99283090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcagcagggcggccGcggagacgagctgcacgggc	6	3	21	11	5	0	1	0	0	0	1	0	3	0	1	1	6	4	4	1	6	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:99283090G>A	ENST00000328345.5	+	1	511	c.341G>A	c.(340-342)cGc>cAc	p.R114H		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	114					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CAGGGCGGCCGCGGAGACGAG	0.731																																																	0													3	3	3					6																	99283090		1429	2764	4193	SO:0001583	missense	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.341G>A	6.37:g.99283090G>A	ENSP00000329170:p.Arg114His		Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.R114H	ENST00000328345.5	37	c.341	CCDS5040.1	6	.	.	.	.	.	.	.	.	.	.	G	9.738	1.164004	0.21538	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	T	0.10382	2.88	3.41	3.41	0.39046	.	0.956494	0.08470	U	0.941126	T	0.08133	0.0203	M	0.61703	1.905	0.40973	D	0.984713	D	0.56287	0.975	B	0.42087	0.375	T	0.36359	-0.9751	10	0.52906	T	0.07	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	114	P20265	PO3F2_HUMAN	H	114;95	ENSP00000329170:R114H	ENSP00000329170:R114H	R	+	2	0	POU3F2	99389811	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.072000	0.76777	1.761000	0.52028	0.162000	0.16502	CGC	POU3F2	-	pirsf_Transcription_factor_POU	ENSG00000184486		0.731	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2		0	18	0	G			99283090	1			no_errors	ENST00000328345	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A	A	99283090	G	A	99283090	3	1	12	1	0	0	0	0	1	0	0	0	12314	1087	38	1	343	1	POU3F2	6	99283090	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1749931	99283090	71831977	165	3268											
SIM1	6492	genome.wustl.edu	37	chr6	100838294	100838294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccttgtgctgggtctggTtgcatcctcagatgggaagt	5	14	14	8	0	2	1	1	0	1	1	4	2	4	2	2	3	2	3	2	3	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:100838294T>G	ENST00000369208.3	-	12	3026	c.2244A>C	c.(2242-2244)caA>caC	p.Q748H	SIM1_ENST00000262901.4_Missense_Mutation_p.Q748H			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	748	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q748H(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGGGTCTGGTTGCATCCTCA	0.413																																																	1	Substitution - Missense(1)	lung(1)											168	160	163					6																	100838294		2203	4300	6503	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.2244A>C	6.37:g.100838294T>G	ENSP00000358210:p.Gln748His		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.Q748H	ENST00000369208.3	37	c.2244	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304644	0.40795	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03951	3.75;3.75	6.1	4.25	0.50352	Single-minded, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.02418	0.0074	N	0.24115	0.695	0.49130	D	0.999752	P	0.50943	0.94	P	0.48030	0.564	T	0.55055	-0.8200	10	0.59425	D	0.04	.	10.5036	0.44821	0.0:0.7981:0.0:0.2019	.	748	P81133	SIM1_HUMAN	H	748	ENSP00000358210:Q748H;ENSP00000262901:Q748H	ENSP00000262901:Q748H	Q	-	3	2	SIM1	100945015	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.574000	0.23714	0.879000	0.35944	-0.182000	0.12963	CAA	SIM1	-	NULL	ENSG00000112246		0.413	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	-	0	89	0	T	NM_005068		100838294	-1	tier1	-	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	36.14	53	30	SNP	1.000	G	G	100838294	T	G	100838294	3	3	12	1	0	0	0	0	1	0	0	0	14368	1722	60	4	60	4	SIM1	6	100838294	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1555204	100838294	70276773	166	3269											
SMPD2	6610	genome.wustl.edu	37	chr6	109763198	109763198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatcattggcagtggcctCtgtgtcttctccaaacatcc	8	12	9	12	0	4	0	1	0	3	0	6	1	5	1	3	3	1	1	3	3	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:109763198C>T	ENST00000258052.3	+	4	605	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	82					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GCAGTGGCCTCTGTGTCTTCT	0.517																																																	0													252	251	251					6																	109763198		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.246C>T	6.37:g.109763198C>T			Q5TED1|Q9BWR3	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L82	ENST00000258052.3	37	c.246	CCDS5075.1	6																																																																																			SMPD2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000135587		0.517	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	-	0	57	0	C			109763198	1	tier1	-	no_errors	ENST00000258052	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.996	T	T	109763198	C	T	109763198	2	4	12	1	0	0	0	0	0	0	0	1	14850	900	32	3		3	SMPD2	6	109763198	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	8924904	109763198	61351869	167	3270											
RFX6	222546	genome.wustl.edu	37	chr6	117237390	117237390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattttttattacacttttgGcaaggaatgcctgaccatct	10	16	6	9	0	1	1	0	1	1	0	1	2	1	2	2	2	2	1	2	2	4	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:117237390G>T	ENST00000332958.2	+	9	901	c.885G>T	c.(883-885)tgG>tgT	p.W295C	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	295					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TACACTTTTGGCAAGGAATGC	0.338																																																	0													139	136	137					6																	117237390		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.885G>T	6.37:g.117237390G>T	ENSP00000332208:p.Trp295Cys		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.W295C	ENST00000332958.2	37	c.885	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260337	0.80246	.	.	ENSG00000185002	ENST00000332958	T	0.63255	-0.03	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.80177	0.4575	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82675	-0.0340	10	0.87932	D	0	-8.5573	19.6354	0.95731	0.0:0.0:1.0:0.0	.	295	Q8HWS3	RFX6_HUMAN	C	295	ENSP00000332208:W295C	ENSP00000332208:W295C	W	+	3	0	RFX6	117344083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.641000	0.89580	0.591000	0.81541	TGG	RFX6	-	NULL	ENSG00000185002		0.338	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0	62	0	G	NM_173560		117237390	1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	T	T	117237390	G	T	117237390	3	4	12	1	0	0	0	0	1	0	0	0	13312	1212	42	3	919	3	RFX6	6	117237390	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	7474192	117237390	53877677	168	3271											
SLC2A12	154091	genome.wustl.edu	37	chr6	134312398	134312400	+	In_Frame_Del	DEL	TTC	TTC	-																															tgaggctgttttggcactaaTtcttcttggtgatgactcat																								rs35561264		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:134312398_134312400delTTC	ENST00000275230.5	-	5	1902_1904	c.1747_1749delGAA	c.(1747-1749)gaadel	p.E583del		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	583					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTGGCACTAATTCTTCTTGGTGA	0.399																																					Melanoma(122;1663 1672 14489 35294 41228)												0																																										SO:0001651	inframe_deletion	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1747_1749delGAA	6.37:g.134312401_134312403delTTC	ENSP00000275230:p.Glu583del		B3KV17|Q7Z6U3|Q96MR8	In_Frame_Del	DEL	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.E583in_frame_del	ENST00000275230.5	37	c.1749_1747	CCDS5169.1	6																																																																																			SLC2A12	-	NULL	ENSG00000146411		0.399	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1		0	109	0	TTC			134312400	-1	tier1		no_errors	ENST00000275230	ensembl	human	known	74_37	in_frame_del	32.11	74	35	DEL	1.000:1.000:1.000	-	-	134312400	TTC	-	134312398	7	5	12	1	0	1	0	1	0	0	0	0	14586	1490	52	0	108	0	SLC2A12	6	134312398	In_Frame_Del	DEL	TTC	TCGA-2H-A9GR-01A-12D-A37C-09	17075008	134312398	36802669	169	3272											
SYNE1	23345	genome.wustl.edu	37	chr6	152542686	152542686	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgtttttccagatcatcTtggagattctgccccaaaaa	10	14	6	11	0	3	2	1	0	2	2	5	3	5	2	4	1	1	1	4	1	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:152542686T>G	ENST00000367255.5	-	118	22132	c.21531A>C	c.(21529-21531)caA>caC	p.Q7177H	SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1701H|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q7106H|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q7106H|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q7177H|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6789H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7177					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCAGATCATCTTGGAGATTCT	0.348										HNSCC(10;0.0054)																																							0													127	134	132					6																	152542686		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21531A>C	6.37:g.152542686T>G	ENSP00000356224:p.Gln7177His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q7177H	ENST00000367255.5	37	c.21531	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863366	0.32884	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.86	-0.617	0.11579	.	0.105190	0.42548	N	0.000683	T	0.14270	0.0345	L	0.33710	1.025	0.51012	D	0.999907	B;B;B;B	0.20988	0.02;0.02;0.04;0.05	B;B;B;B	0.28139	0.086;0.086;0.052;0.086	T	0.06092	-1.0846	10	0.19147	T	0.46	.	6.0486	0.19773	0.1601:0.3875:0.0:0.4524	.	7177;7177;7106;7106	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	H	7177;7106;7177;7106;6789;1701;99	ENSP00000356224:Q7177H;ENSP00000396024:Q7106H;ENSP00000265368:Q7177H;ENSP00000390975:Q7106H;ENSP00000341887:Q6789H;ENSP00000349276:Q1701H;ENSP00000356220:Q99H	ENSP00000265368:Q7177H	Q	-	3	2	SYNE1	152584379	0.896000	0.30565	0.998000	0.56505	0.669000	0.39330	-0.017000	0.12590	-0.026000	0.13895	-0.256000	0.11100	CAA	SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	49	0	T	NM_182961		152542686	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.993	G	G	152542686	T	G	152542686	3	3	12	1	0	0	0	0	1	0	0	0	15492	1606	56	4	5051	4	SYNE1	6	152542686	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	18230288	152542686	18572381	170	3273											
PARK2	5071	genome.wustl.edu	37	chr6	162683700	162683700	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcacagcctcccgccgcgTttctggggtcgtcgcctcca	3	9	11	18	5	2	0	1	0	1	0	6	0	4	0	5	2	1	2	5	2	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:162683700T>G	ENST00000366898.1	-	3	371	c.269A>C	c.(268-270)aAc>aCc	p.N90T	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.N90T|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Missense_Mutation_p.N90T	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	90					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCCCGCCGCGTTTCTGGGGTC	0.577																																																	0													88	86	87					6																	162683700		2203	4300	6503	SO:0001583	missense	0				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.269A>C	6.37:g.162683700T>G	ENSP00000355865:p.Asn90Thr		A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin	p.N90T	ENST00000366898.1	37	c.269	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	T	6.235	0.411423	0.11812	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895;ENST00000542682	D;D;D	0.91792	-2.79;-2.91;-2.84	5.05	-10.1	0.00402	.	1.442670	0.04002	N	0.296654	T	0.59582	0.2204	N	0.08118	0	0.09310	N	1	B;B;B	0.19583	0.037;0.004;0.004	B;B;B	0.17979	0.02;0.005;0.005	T	0.61505	-0.7049	10	0.15066	T	0.55	.	9.191	0.37200	0.0:0.1046:0.2963:0.5991	.	90;90;90	O60260-5;Q5VVX4;O60260	.;.;PRKN2_HUMAN	T	90;90;90;11;89	ENSP00000355865:N90T;ENSP00000355863:N90T;ENSP00000355858:N90T	ENSP00000355858:N90T	N	-	2	0	PARK2	162603690	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.398000	0.01051	-2.528000	0.00493	-0.366000	0.07423	AAC	PARK2	-	pirsf_Parkin	ENSG00000185345		0.577	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	-	0	48	0	T			162683700	-1	tier1	-	no_errors	ENST00000366898	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.000	G	G	162683700	T	G	162683700	3	3	12	1	0	0	0	0	1	0	0	0	11488	1725	60	4	1168	4	PARK2	6	162683700	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	10141014	162683700	8431367	171	3274											
MLLT4	4301	genome.wustl.edu	37	chr6	168323599	168323599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaatatattttgaaggtgCagattatgaaagtcaccttc	14	13	8	6	0	1	3	1	2	0	1	2	4	1	3	1	1	1	1	1	1	6	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:168323599C>T	ENST00000447894.2	+	21	2951	c.2951C>T	c.(2950-2952)gCa>gTa	p.A984V	MLLT4_ENST00000344191.4_Missense_Mutation_p.A984V|MLLT4_ENST00000392112.1_Missense_Mutation_p.A968V|MLLT4_ENST00000351017.4_Missense_Mutation_p.A991V|MLLT4_ENST00000366806.2_Missense_Mutation_p.A984V|MLLT4_ENST00000400822.3_Missense_Mutation_p.A983V|MLLT4_ENST00000392108.3_Missense_Mutation_p.A984V			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	984					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTTGAAGGTGCAGATTATGAA	0.408			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													155	143	147					6																	168323599		2203	4300	6503	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2951C>T	6.37:g.168323599C>T	ENSP00000404595:p.Ala984Val		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.A984V	ENST00000447894.2	37	c.2951		6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062944	0.76187	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000497596	T;T;T;T;T;T;T	0.05081	3.68;3.59;3.68;3.7;3.5;3.57;3.58	6.0	5.13	0.70059	.	0.060971	0.64402	N	0.000003	T	0.03608	0.0103	L	0.47716	1.5	0.80722	D	1	B;B;P;B	0.34909	0.047;0.03;0.475;0.148	B;B;B;B	0.34824	0.007;0.025;0.19;0.03	T	0.43212	-0.9405	10	0.33940	T	0.23	-2.3079	15.55	0.76141	0.0:0.9333:0.0:0.0667	.	984;983;984;968	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	V	984;991;984;984;968;984;983;984;147	ENSP00000341118:A984V;ENSP00000252692:A991V;ENSP00000375956:A984V;ENSP00000355771:A984V;ENSP00000375960:A968V;ENSP00000383623:A983V;ENSP00000404595:A984V	ENSP00000345834:A984V	A	+	2	0	MLLT4	168066448	1.000000	0.71417	0.968000	0.41197	0.993000	0.82548	4.344000	0.59354	1.522000	0.49001	0.655000	0.94253	GCA	MLLT4	-	NULL	ENSG00000130396		0.408	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	-	0	65	0	C	NM_005936		168323599	1	tier1	-	no_errors	ENST00000366806	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T	T	168323599	C	T	168323599	3	4	12	1	0	0	0	0	1	0	0	0	9667	710	25	3	3033	3	MLLT4	6	168323599	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5639899	168323599	2791468	172	3275											
TBP	6908	genome.wustl.edu	37	chr6	170873672	170873672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcttggttgtaaacttgaCctaaagaccattgcacttcg	12	13	7	9	1	1	2	0	1	1	1	2	2	1	2	2	1	2	3	2	1	5	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr6:170873672C>A	ENST00000392092.2	+	4	816	c.537C>A	c.(535-537)gaC>gaA	p.D179E	TBP_ENST00000230354.6_Missense_Mutation_p.D179E|TBP_ENST00000540980.1_Missense_Mutation_p.D159E	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	179					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		GTAAACTTGACCTAAAGACCA	0.328																																																	0													79	81	80					6																	170873672		2203	4300	6503	SO:0001583	missense	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.537C>A	6.37:g.170873672C>A	ENSP00000375942:p.Asp179Glu		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.D179E	ENST00000392092.2	37	c.537	CCDS5315.1	6	.	.	.	.	.	.	.	.	.	.	C	15.66	2.897814	0.52227	.	.	ENSG00000112592	ENST00000421512;ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	T;T;T;T	0.62941	-0.01;2.33;2.33;2.33	5.84	4.08	0.47627	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.70903	2.155	0.58432	D	0.999999	B	0.25521	0.128	B	0.26693	0.072	T	0.51132	-0.8744	10	0.62326	D	0.03	-12.43	9.4686	0.38829	0.0:0.7255:0.0:0.2745	.	179	P20226	TBP_HUMAN	E	179;179;159;179;156	ENSP00000400008:D179E;ENSP00000375942:D179E;ENSP00000442132:D159E;ENSP00000230354:D179E	ENSP00000230354:D179E	D	+	3	2	TBP	170715597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.986000	0.29590	0.821000	0.34540	-0.145000	0.13849	GAC	TBP	-	pfam_TBP,prints_TBP	ENSG00000112592		0.328	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0	53	0	C	NM_003194		170873672	1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	missense	47.37	20	18	SNP	1.000	A	A	170873672	C	A	170873672	3	1	12	1	0	0	0	0	1	0	0	0	15691	506	18	3	547	3	TBP	6	170873672	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2550073	170873672	241395	173	3276											
SLC29A4	222962	genome.wustl.edu	37	chr7	5336639	5336639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgacgagcgcgccagcaCgctcatcttcttcctggtgt	5	9	11	16	5	3	0	1	0	2	0	4	2	4	0	3	1	2	2	3	1	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:5336639C>T	ENST00000396872.3	+	7	853	c.692C>T	c.(691-693)aCg>aTg	p.T231M	SLC29A4_ENST00000406453.3_Missense_Mutation_p.T217M|SLC29A4_ENST00000297195.4_Missense_Mutation_p.T231M			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	231					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CGCGCCAGCACGCTCATCTTC	0.662																																																	0													30	31	31					7																	5336639		2188	4267	6455	SO:0001583	missense	0			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.692C>T	7.37:g.5336639C>T	ENSP00000380081:p.Thr231Met		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.T231M	ENST00000396872.3	37	c.692	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	24.2	4.510106	0.85282	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.80738	-1.41;-1.41;-1.41	3.45	3.45	0.39498	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.82630	2.6	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91045	0.4874	10	0.87932	D	0	-0.3632	13.4531	0.61182	0.0:1.0:0.0:0.0	.	217;231	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	M	231;231;217	ENSP00000380081:T231M;ENSP00000297195:T231M;ENSP00000385845:T217M	ENSP00000297195:T231M	T	+	2	0	SLC29A4	5303165	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	6.945000	0.75947	1.652000	0.50683	0.555000	0.69702	ACG	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	ENSG00000164638		0.662	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	-	0	85	0	C	NM_153247		5336639	1	tier1	-	no_errors	ENST00000297195	ensembl	human	known	74_37	missense	10.10	89	10	SNP	0.998	T	T	5336639	C	T	5336639	3	4	12	1	0	0	0	0	1	0	0	0	14582	536	19	1	714	1	SLC29A4	7	5336639	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		5336639	153802024	174	3277											
TNRC18	84629	genome.wustl.edu	37	chr7	5410841	5410841	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcggatgggcttgtcttcGggtgagagtgccaggcgctc	6	9	17	9	3	1	1	0	1	1	1	3	3	1	2	1	4	2	2	1	4	1	2	rs541066805		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:5410841G>A	ENST00000430969.1	-	11	3732	c.3384C>T	c.(3382-3384)ccC>ccT	p.P1128P	TNRC18_ENST00000399537.4_Silent_p.P1128P	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1128	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCTTGTCTTCGGGTGAGAGTG	0.701													G|||	1	0.000199681	8e-04	0	5008	,	,		12940	0		0	False		,,,				2504	0																0																																										SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3384C>T	7.37:g.5410841G>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P1128	ENST00000430969.1	37	c.3384	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		-	0	78	0	G			5410841	-1	tier1	-	no_errors	ENST00000399537	ensembl	human	known	74_37	silent	14.73	110	19	SNP	0.031	A	A	5410841	G	A	5410841	2	1	12	1	0	0	0	0	0	0	0	1	16386	1103	39	1		1	TNRC18	7	5410841	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	74202	5410841	153727822	175	3278											
C7orf26	79034	genome.wustl.edu	37	chr7	6639485	6639485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcattccacctatggacttGcttgaaatgattgtcacctg	9	14	7	11	0	2	2	2	2	0	0	3	3	3	3	3	1	1	1	3	1	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:6639485G>A	ENST00000344417.5	+	4	873	c.606G>A	c.(604-606)ttG>ttA	p.L202L	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Silent_p.L183L	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	202										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTATGGACTTGCTTGAAATGA	0.478																																																	0													178	166	170					7																	6639485		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.606G>A	7.37:g.6639485G>A			Q9BQ43	Silent	SNP	NULL	p.L202	ENST00000344417.5	37	c.606	CCDS5353.1	7																																																																																			C7orf26	-	NULL	ENSG00000146576		0.478	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf26	HGNC	protein_coding	OTTHUMT00000246844.2	-	0	68	0	G	NM_024067		6639485	1	tier1	-	no_errors	ENST00000344417	ensembl	human	known	74_37	silent	5.61	101	6	SNP	1.000	A	A	6639485	G	A	6639485	2	1	12	1	0	0	0	0	0	0	0	1	2388	1310	46	3		3	C7orf26	7	6639485	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1228644	6639485	152499178	176	3279											
FERD3L	222894	genome.wustl.edu	37	chr7	19184940	19184940	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggacaggtctgcgacgaAgtccagcaccgtagtgtcca	10	6	13	12	3	1	0	0	0	1	0	3	3	3	1	3	2	2	2	3	2	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:19184940A>C	ENST00000275461.3	-	1	104	c.46T>G	c.(46-48)Ttc>Gtc	p.F16V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	16					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TCTGCGACGAAGTCCAGCACC	0.682																																																	0													34	33	34					7																	19184940		2203	4299	6502	SO:0001583	missense	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.46T>G	7.37:g.19184940A>C	ENSP00000275461:p.Phe16Val		Q495K0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.F16V	ENST00000275461.3	37	c.46	CCDS5368.1	7	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053147	0.75960	.	.	ENSG00000146618	ENST00000275461	D	0.97731	-4.51	5.66	4.49	0.54785	.	0.212557	0.33040	N	0.005349	D	0.93749	0.8002	L	0.29908	0.895	0.38481	D	0.947737	P	0.49185	0.92	B	0.42386	0.386	D	0.91334	0.5092	10	0.36615	T	0.2	-1.0911	5.9939	0.19483	0.7784:0.0:0.0756:0.146	.	16	Q96RJ6	FER3L_HUMAN	V	16	ENSP00000275461:F16V	ENSP00000275461:F16V	F	-	1	0	FERD3L	19151465	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.832000	0.62759	0.961000	0.38030	0.528000	0.53228	TTC	FERD3L	-	NULL	ENSG00000146618		0.682	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1		0	74	0	A			19184940	-1			no_errors	ENST00000275461	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	C	C	19184940	A	C	19184940	3	2	12	1	0	0	0	0	1	0	0	0	5838	72	3	4	458	4	FERD3L	7	19184940	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	12545455	19184940	139953723	177	3280											
FERD3L	222894	genome.wustl.edu	37	chr7	19184962	19184962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaccgtagtgtccacGcagctctccggataggccgc	7	7	11	16	4	1	0	0	0	1	0	4	1	3	1	5	2	2	4	5	2	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:19184962G>A	ENST00000275461.3	-	1	82	c.24C>T	c.(22-24)tgC>tgT	p.C8C	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	8					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TAGTGTCCACGCAGCTCTCCG	0.657																																																	0													29	29	29					7																	19184962		2203	4299	6502	SO:0001819	synonymous_variant	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.24C>T	7.37:g.19184962G>A			Q495K0	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.C8	ENST00000275461.3	37	c.24	CCDS5368.1	7																																																																																			FERD3L	-	NULL	ENSG00000146618		0.657	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	-	0	75	0	G			19184962	-1	tier1	-	no_errors	ENST00000275461	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	A	A	19184962	G	A	19184962	2	1	12	1	0	0	0	0	0	0	0	1	5838	1079	38	1		1	FERD3L	7	19184962	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	22	19184962	139953701	178	3281											
GHRHR	2692	genome.wustl.edu	37	chr7	31016045	31016045	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttgtctttcctgcaggCgtctctccaagtcgacactt	6	14	9	12	2	2	0	0	0	2	0	6	2	4	1	2	2	1	1	2	2	1	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:31016045C>T	ENST00000326139.2	+	11	1022	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	GHRHR_ENST00000409316.1_Splice_Site_p.A92V|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Splice_Site_p.R262C	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	326					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TTCCTGCAGGCGTCTCTCCAA	0.512																																																	0													78	65	69					7																	31016045		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"GPCR / Class B : Glucagon receptors"	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.975-1C>T	7.37:g.31016045C>T			Q99863	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.R326C	ENST00000326139.2	37	c.976	CCDS5432.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	29.4|29.4	5.007022|5.007022	0.93287|0.93287	.|.	.|.	ENSG00000106128|ENSG00000106128	ENST00000409233;ENST00000409316|ENST00000326139;ENST00000409904	.|T;T	.|0.45276	.|0.9;0.9	4.93|4.93	3.0|3.0	0.34707|0.34707	.|GPCR, family 2-like (1);	.|.	.|.	.|.	.|.	T|T	0.67021|0.67021	0.2849|0.2849	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	P|D;D	0.50710|0.89917	0.938|1.0;1.0	P|D;D	0.46510|0.78314	0.519|0.976;0.991	T|T	0.69595|0.69595	-0.5103|-0.5103	8|9	0.44086|0.87932	T|D	0.13|0	.|.	9.964|9.964	0.41712|0.41712	0.3684:0.6316:0.0:0.0|0.3684:0.6316:0.0:0.0	.|.	92|262;326	Q9HB43|Q9HB45;Q02643	.|.;GHRHR_HUMAN	V|C	113;92|326;262	.|ENSP00000320180:R326C;ENSP00000387113:R262C	ENSP00000386919:A113V|ENSP00000320180:R326C	A|R	+|+	2|1	0|0	GHRHR|GHRHR	30982570|30982570	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.969000|0.969000	0.65631|0.65631	2.518000|2.518000	0.45537|0.45537	0.411000|0.411000	0.25702|0.25702	0.546000|0.546000	0.68486|0.68486	GCG|CGT	GHRHR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000106128		0.512	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2	-	0	36	0	C		Missense_Mutation	31016045	1	tier1	-	no_errors	ENST00000326139	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	T	T	31016045	C	T	31016045	5	4	12	1	0	0	0	0	0	0	1	0	6399	782	27	1	1058	1	GHRHR	7	31016045	Splice_Site	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	11831083	31016045	128122618	179	3282											
BBS9	27241	genome.wustl.edu	37	chr7	33313529	33313529	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagtgggccacccaacTtccccacattcctgtagcag	10	8	8	15	0	0	1	0	1	0	0	2	1	2	1	5	1	2	2	5	1	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:33313529T>G	ENST00000242067.6	+	9	1498	c.977T>G	c.(976-978)cTt>cGt	p.L326R	BBS9_ENST00000355070.2_Missense_Mutation_p.L326R|BBS9_ENST00000354265.4_Missense_Mutation_p.L326R|BBS9_ENST00000350941.3_Missense_Mutation_p.L326R|BBS9_ENST00000425508.2_Missense_Mutation_p.L281R|BBS9_ENST00000396127.2_Missense_Mutation_p.L326R	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	326					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCCACCCAACTTCCCCACATT	0.358									Bardet-Biedl syndrome																																								0													76	73	74					7																	33313529		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.977T>G	7.37:g.33313529T>G	ENSP00000242067:p.Leu326Arg		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.L326R	ENST00000242067.6	37	c.977	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	T	24.5	4.542774	0.85917	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000537775	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.92401	0.7588	M	0.81802	2.56	0.52099	D	0.999948	D;D;D;D;D	0.89917	0.997;0.992;0.992;0.992;1.0	D;D;D;D;D	0.80764	0.945;0.956;0.956;0.956;0.994	D	0.93416	0.6773	10	0.87932	D	0	-18.778	15.7289	0.77788	0.0:0.0:0.0:1.0	.	326;326;326;326;326	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	R	326;326;326;326;326;326;326;281;204	ENSP00000242067:L326R;ENSP00000313122:L326R;ENSP00000379433:L326R;ENSP00000347182:L326R;ENSP00000346214:L326R;ENSP00000405151:L281R	ENSP00000242067:L326R	L	+	2	0	BBS9	33280054	1.000000	0.71417	0.903000	0.35520	0.992000	0.81027	7.277000	0.78572	2.129000	0.65627	0.397000	0.26171	CTT	BBS9	-	NULL	ENSG00000122507		0.358	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	-	0	58	0	T			33313529	1	tier1	-	no_errors	ENST00000242067	ensembl	human	known	74_37	missense	47.76	35	32	SNP	1.000	G	G	33313529	T	G	33313529	3	3	12	1	0	0	0	0	1	0	0	0	1343	1609	56	4	1007	4	BBS9	7	33313529	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2297484	33313529	125825134	180	3283											
ELMO1	9844	genome.wustl.edu	37	chr7	37251073	37251073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttgttaggttcagacTcagcatcaaaagcaattctt	11	14	8	8	0	4	1	3	0	1	1	4	1	4	1	0	1	3	6	0	1	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:37251073T>C	ENST00000310758.4	-	13	1651	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	ELMO1_ENST00000442504.1_Missense_Mutation_p.E335G|ELMO1_ENST00000448602.1_Missense_Mutation_p.E335G	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	335	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGGTTCAGACTCAGCATCAAA	0.433																																																	0													169	130	143					7																	37251073		2203	4300	6503	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1004A>G	7.37:g.37251073T>C	ENSP00000312185:p.Glu335Gly		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E335G	ENST00000310758.4	37	c.1004	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.2|28.2	4.897246|4.897246	0.91962|0.91962	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212|ENST00000433246	T;T;T;T|.	0.38077|.	2.32;2.32;2.32;1.16|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Engulfment/cell motility, ELMO (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69602|0.69602	0.3129|0.3129	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P|.	0.45768|.	0.866|.	P|.	0.48873|.	0.593|.	T|T	0.68659|0.68659	-0.5350|-0.5350	10|5	0.66056|.	D|.	0.02|.	.|.	15.2288|15.2288	0.73372|0.73372	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	335|.	Q92556|.	ELMO1_HUMAN|.	G|G	335;239;335;335;76|115	ENSP00000312185:E335G;ENSP00000406952:E335G;ENSP00000394458:E335G;ENSP00000395933:E76G|.	ENSP00000312185:E335G|.	E|S	-|-	2|1	0|0	ELMO1|ELMO1	37217598|37217598	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.921000|0.921000	0.55340|0.55340	7.997000|7.997000	0.88414|0.88414	2.142000|2.142000	0.66516|0.66516	0.402000|0.402000	0.26972|0.26972	GAG|AGT	ELMO1	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000155849		0.433	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	62	0	T	NM_130442		37251073	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	42.86	52	39	SNP	1.000	C	C	37251073	T	C	37251073	3	2	12	1	0	0	0	0	1	0	0	0	5081	1551	54	4	1219	4	ELMO1	7	37251073	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	3937544	37251073	121887590	181	3284											
CCM2	83605	genome.wustl.edu	37	chr7	45067378	45067378	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaacagaatttcacacaggGtattccatggagaatgaggt	15	9	10	7	0	1	3	1	1	0	2	2	4	2	3	1	3	1	1	1	3	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:45067378G>T	ENST00000258781.6	+	2	179				CCM2_ENST00000544363.1_Intron|CCM2_ENST00000541586.1_Intron|CCM2_ENST00000381112.3_Silent_p.G25G|CCM2_ENST00000474617.1_5'UTR|CCM2_ENST00000475551.1_5'UTR|CCM2_ENST00000461377.1_Intron	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TTCACACAGGGTATTCCATGG	0.458																																																	0													67	70	69					7																	45067378		2203	4300	6503	SO:0001627	intron_variant	0			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.31-10474G>T	7.37:g.45067378G>T			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Silent	SNP	pfscan_PTB/PI_dom	p.G25	ENST00000258781.6	37	c.75	CCDS5500.1	7																																																																																			CCM2	-	NULL	ENSG00000136280		0.458	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	HGNC	protein_coding	OTTHUMT00000251348.1	-	0	32	0	G	NM_031443		45067378	1	tier1	-	no_errors	ENST00000381112	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.000	T	T	45067378	G	T	45067378	1	4	12	0	1	0	0	0	0	0	0	0	2915	1248	44	3		3	CCM2	7	45067378	Intron	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	7816305	45067378	114071285	182	3285											
ZPBP	11055	genome.wustl.edu	37	chr7	50121488	50121488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgatggagcatgacataCgctttcactgaaaatacaat	14	13	7	7	1	1	3	1	3	0	0	1	4	1	4	0	1	3	2	0	1	5	5	rs144577669		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:50121488C>T	ENST00000046087.2	-	3	285	c.216G>A	c.(214-216)gcG>gcA	p.A72A	ZPBP_ENST00000419417.1_Silent_p.A72A	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	72					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GCATGACATACGCTTTCACTG	0.353																																																	0								T	,	1,4403	824.7+/-416.5	0,1,2201	116	106	109		216,216	-7.5	0.9	7	dbSNP_134	109	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	ZPBP	NM_001159878.1,NM_007009.2	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	72/351,72/352	50121488	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.216G>A	7.37:g.50121488C>T			A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Silent	SNP	pfam_Sp38-bd,pfscan_Ig-like_dom	p.A72	ENST00000046087.2	37	c.216	CCDS5509.1	7																																																																																			ZPBP	-	pfscan_Ig-like_dom	ENSG00000042813		0.353	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1	-	0	45	0	C	NM_007009		50121488	-1	tier1	rs144577669	no_errors	ENST00000046087	ensembl	human	known	74_37	silent	16.39	51	10	SNP	0.765	T	T	50121488	C	T	50121488	2	4	12	1	0	0	0	0	0	0	0	1	18267	523	19	1		1	ZPBP	7	50121488	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5054110	50121488	109017175	183	3286											
PHKG1	5260	genome.wustl.edu	37	chr7	56149352	56149352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccgggggctgaagtgccGcacttcctccaccaagtact	7	7	10	17	2	0	1	0	1	0	0	2	1	2	1	6	2	2	3	6	2	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:56149352G>A	ENST00000297373.2	-	9	1083	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	PHKG1_ENST00000537360.1_Missense_Mutation_p.R243W|PHKG1_ENST00000452681.2_Missense_Mutation_p.R329W|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	297					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGAAGTGCCGCACTTCCTCC	0.607																																					Melanoma(184;580 2064 5329 24177 35303)												0													38	41	40					7																	56149352		2203	4300	6503	SO:0001583	missense	0			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.889C>T	7.37:g.56149352G>A	ENSP00000297373:p.Arg297Trp		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma	p.R329W	ENST00000297373.2	37	c.985	CCDS5525.1	7	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750148	0.49257	.	.	ENSG00000164776	ENST00000452681;ENST00000537360;ENST00000297373	T;T;T	0.31247	1.5;1.5;1.5	4.32	4.32	0.51571	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000016	T	0.32734	0.0839	M	0.63843	1.955	0.80722	D	1	B;B;B;B	0.28419	0.134;0.035;0.211;0.134	B;B;B;B	0.24269	0.023;0.014;0.052;0.023	T	0.19877	-1.0292	10	0.44086	T	0.13	-16.8792	16.1753	0.81845	0.0:0.0:1.0:0.0	.	243;288;329;297	B7Z5U3;B7Z6U2;F5H2S1;Q16816	.;.;.;PHKG1_HUMAN	W	329;243;297	ENSP00000445440:R329W;ENSP00000441528:R243W;ENSP00000297373:R297W	ENSP00000297373:R297W	R	-	1	2	PHKG1	56116846	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.745000	0.74860	2.124000	0.65301	0.313000	0.20887	CGG	PHKG1	-	superfamily_Kinase-like_dom,prints_Phosph_kin_gamma	ENSG00000164776		0.607	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKG1	HGNC	protein_coding	OTTHUMT00000251587.1	-	0	74	0	G	NM_006213		56149352	-1	tier1	-	no_errors	ENST00000452681	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	A	A	56149352	G	A	56149352	3	1	12	1	0	0	0	0	1	0	0	0	11885	1086	38	1	282	1	PHKG1	7	56149352	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	6027864	56149352	102989311	184	3287											
ZNF679	168417	genome.wustl.edu	37	chr7	63727240	63727240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctacaaatGtgaataatgtgataaagtcc	17	9	9	6	0	0	3	0	2	0	1	1	5	1	4	2	1	2	0	2	1	7	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:63727240G>T	ENST00000421025.1	+	5	1498	c.1229G>T	c.(1228-1230)tGt>tTt	p.C410F	ZNF679_ENST00000255746.4_Missense_Mutation_p.C410F	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTACAAATGTGAATAATGT	0.348																																																	0													17	16	16					7																	63727240		692	1590	2282	SO:0001583	missense	0			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.1229G>T	7.37:g.63727240G>T	ENSP00000416809:p.Cys410Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C410F	ENST00000421025.1	37	c.1229	CCDS47592.1	7	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258040	0.39896	.	.	ENSG00000197123	ENST00000421025;ENST00000255746	T;T	0.39229	1.09;1.09	0.819	0.819	0.18785	.	.	.	.	.	T	0.70334	0.3212	H	0.97540	4.025	0.36554	D	0.872011	D	0.89917	1.0	D	0.91635	0.999	T	0.70857	-0.4758	9	0.87932	D	0	.	4.7943	0.13265	0.0:0.0:1.0:0.0	.	410	Q8IYX0	ZN679_HUMAN	F	410	ENSP00000416809:C410F;ENSP00000255746:C410F	ENSP00000255746:C410F	C	+	2	0	ZNF679	63364675	1.000000	0.71417	0.294000	0.24946	0.295000	0.27426	4.933000	0.63484	0.191000	0.20236	0.194000	0.17425	TGT	ZNF679	-	NULL	ENSG00000197123		0.348	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	-	0	67	0	G	NM_153363		63727240	1	tier1	-	no_errors	ENST00000255746	ensembl	human	known	74_37	missense	20.25	63	16	SNP	0.877	T	T	63727240	G	T	63727240	3	4	12	1	0	0	0	0	1	0	0	0	18134	1377	48	3	1243	3	ZNF679	7	63727240	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	7577888	63727240	95411423	185	3288											
WBSCR17	64409	genome.wustl.edu	37	chr7	70800605	70800605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggggccttccggctactcTttccccggctgaagaagaaa	9	8	12	12	2	1	3	0	1	1	2	3	3	3	3	4	4	1	2	4	4	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:70800605T>C	ENST00000333538.5	+	2	942	c.308T>C	c.(307-309)cTt>cCt	p.L103P	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	103					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCTACTCTTTCCCCGGCT	0.463																																																	0													43	47	46					7																	70800605		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.308T>C	7.37:g.70800605T>C	ENSP00000329654:p.Leu103Pro		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L103P	ENST00000333538.5	37	c.308	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795139	0.70452	.	.	ENSG00000185274	ENST00000333538;ENST00000447516	T;T	0.60299	0.2;1.54	4.89	4.89	0.63831	.	1.277870	0.05336	N	0.529261	T	0.80099	0.4561	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67356	-0.5691	10	0.87932	D	0	.	13.8154	0.63287	0.0:0.0:0.0:1.0	.	103	Q6IS24	GLTL3_HUMAN	P	103;81	ENSP00000329654:L103P;ENSP00000392019:L81P	ENSP00000329654:L103P	L	+	2	0	WBSCR17	70438541	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	7.525000	0.81892	2.045000	0.60652	0.402000	0.26972	CTT	WBSCR17	-	NULL	ENSG00000185274		0.463	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	142	0	T	NM_022479		70800605	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	22.42	128	37	SNP	1.000	C	C	70800605	T	C	70800605	3	2	12	1	0	0	0	0	1	0	0	0	17313	1609	56	4	314	4	WBSCR17	7	70800605	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	7073365	70800605	88338058	186	3289											
WBSCR17	64409	genome.wustl.edu	37	chr7	71175905	71175905	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgtacaagcgctggaacTtcatccaggtgagtgctgta	9	10	12	10	1	1	1	1	1	0	0	2	2	2	2	2	2	4	4	2	2	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:71175905T>G	ENST00000333538.5	+	10	2294	c.1660T>G	c.(1660-1662)Ttc>Gtc	p.F554V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	554	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCGCTGGAACTTCATCCAGGT	0.617																																																	0													44	40	42					7																	71175905		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1660T>G	7.37:g.71175905T>G	ENSP00000329654:p.Phe554Val		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F554V	ENST00000333538.5	37	c.1660	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290191	0.80914	.	.	ENSG00000185274	ENST00000333538	T	0.26957	1.7	5.28	5.28	0.74379	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	M	0.87682	2.9	0.54753	D	0.999981	D	0.61697	0.99	D	0.64776	0.929	T	0.61840	-0.6980	10	0.62326	D	0.03	.	14.1904	0.65635	0.0:0.0:0.0:1.0	.	554	Q6IS24	GLTL3_HUMAN	V	554	ENSP00000329654:F554V	ENSP00000329654:F554V	F	+	1	0	WBSCR17	70813841	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.363000	0.59473	2.217000	0.71921	0.533000	0.62120	TTC	WBSCR17	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000185274		0.617	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	29	0	T	NM_022479		71175905	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	39.62	32	21	SNP	1.000	G	G	71175905	T	G	71175905	3	3	12	1	0	0	0	0	1	0	0	0	17313	1609	56	4	1698	4	WBSCR17	7	71175905	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	375300	71175905	87962758	187	3290											
UPK3B	80761	genome.wustl.edu	37	chr7	76140306	76140307	+	Frame_Shift_Del	DEL	TG	TG	-																															tctccctggagcagccgcgcTgtgtcttcgatgggcttgcc																								rs141065157	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:76140306_76140307delTG	ENST00000257632.5	+	1	465_466	c.337_338delTG	c.(337-339)tgtfs	p.C113fs	UPK3B_ENST00000419923.2_Frame_Shift_Del_p.C113fs|UPK3B_ENST00000394849.1_Frame_Shift_Del_p.C58fs|UPK3B_ENST00000443097.2_Frame_Shift_Del_p.C58fs|UPK3B_ENST00000448265.3_Frame_Shift_Del_p.C113fs|UPK3B_ENST00000334348.3_Frame_Shift_Del_p.C58fs			Q9BT76	UPK3B_HUMAN	uroplakin 3B	113					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCAGCCGCGCTGTGTCTTCGAT	0.644																																																	0																																										SO:0001589	frameshift_variant	0			BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"uroplakin IIIb"	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.337_338delTG	7.37:g.76140308_76140309delTG	ENSP00000257632:p.Cys113fs		A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Frame_Shift_Del	DEL	NULL	p.V114fs	ENST00000257632.5	37	c.337_338	CCDS5588.1	7																																																																																			UPK3B	-	NULL	ENSG00000243566		0.644	UPK3B-002	KNOWN	basic|CCDS	protein_coding	UPK3B	HGNC	protein_coding	OTTHUMT00000313978.2		0	136	0	TG	NM_030570		76140307	1	tier1		no_errors	ENST00000257632	ensembl	human	known	74_37	frame_shift_del	17.81	120	26	DEL	1.000:1.000	-	-	76140307	TG	-	76140306	7	5	12	1	0	1	0	1	0	0	0	0	17060	1580	55	0	339	0	UPK3B	7	76140306	Frame_Shift_Del	DEL	TG	TCGA-2H-A9GR-01A-12D-A37C-09	4964401	76140306	82998357	188	3291											
PCLO	27445	genome.wustl.edu	37	chr7	82581892	82581892	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaaaggtcactgtctCagtggccagagatacaggag	12	8	13	8	0	2	2	2	1	1	1	3	4	2	3	1	3	1	0	1	3	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:82581892C>A	ENST00000333891.9	-	5	8714	c.8377G>T	c.(8377-8379)Gag>Tag	p.E2793*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.E2793*|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCACTGTCTCAGTGGCCAGA	0.433																																																	0													198	172	181					7																	82581892		2003	4166	6169	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8377G>T	7.37:g.82581892C>A	ENSP00000334319:p.Glu2793*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E2793*	ENST00000333891.9	37	c.8377	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	49	15.288264	0.99829	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.39	2.52	0.30459	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.0308	0.30463	0.0:0.7213:0.1321:0.1466	.	.	.	.	X	2724;2793;2793	.	ENSP00000334319:E2793X	E	-	1	0	PCLO	82419828	0.998000	0.40836	0.002000	0.10522	0.220000	0.24768	3.753000	0.55180	0.302000	0.22762	0.655000	0.94253	GAG	PCLO	-	NULL	ENSG00000186472		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	50	0	C	NM_014510		82581892	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	44.09	52	41	SNP	0.373	A	A	82581892	C	A	82581892	4	1	12	1	0	0	0	0	0	1	0	0	11622	835	29	3	7152	3	PCLO	7	82581892	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	6441586	82581892	76556771	189	3292											
PCLO	27445	genome.wustl.edu	37	chr7	82585678	82585678	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgatgagccaacactagTtcttcgttttctttgtggaa	8	16	9	8	1	2	2	0	2	2	0	3	3	2	3	1	1	2	3	1	1	3	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:82585678T>G	ENST00000333891.9	-	5	4928	c.4591A>C	c.(4591-4593)Act>Cct	p.T1531P	PCLO_ENST00000423517.2_Missense_Mutation_p.T1531P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCAACACTAGTTCTTCGTTTT	0.398																																																	0													137	123	127					7																	82585678		1907	4147	6054	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4591A>C	7.37:g.82585678T>G	ENSP00000334319:p.Thr1531Pro			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.T1531P	ENST00000333891.9	37	c.4591	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314128	0.23908	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.32	5.47	-2.7	0.06004	.	.	.	.	.	T	0.10078	0.0247	N	0.22421	0.69	0.20307	N	0.999914	P;P	0.44946	0.846;0.846	B;B	0.39258	0.295;0.295	T	0.23154	-1.0196	9	0.87932	D	0	.	8.2314	0.31601	0.1152:0.4724:0.0:0.4124	.	1531;1531	Q9Y6V0-5;Q9Y6V0-6	.;.	P	1462;1531;1531	ENSP00000334319:T1531P;ENSP00000388393:T1531P	ENSP00000334319:T1531P	T	-	1	0	PCLO	82423614	0.002000	0.14202	0.006000	0.13384	0.996000	0.88848	-1.046000	0.03525	-0.490000	0.06707	0.533000	0.62120	ACT	PCLO	-	NULL	ENSG00000186472		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	64	0	T	NM_014510		82585678	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	22.35	66	19	SNP	0.113	G	G	82585678	T	G	82585678	3	3	12	1	0	0	0	0	1	0	0	0	11622	1725	60	4	10938	4	PCLO	7	82585678	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	3786	82585678	76552985	190	3293											
STEAP2	261729	genome.wustl.edu	37	chr7	89859343	89859343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactggagagaattcagttTtattcaggtatgtggggttt	11	15	12	3	0	2	1	2	0	0	1	2	3	2	2	0	4	1	3	0	4	4	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:89859343T>C	ENST00000287908.3	+	4	1571	c.1178T>C	c.(1177-1179)tTt>tCt	p.F393S	STEAP2_ENST00000394622.2_Missense_Mutation_p.F393S|STEAP2_ENST00000394629.2_Missense_Mutation_p.F393S|STEAP2_ENST00000402625.2_Missense_Mutation_p.F393S|STEAP2_ENST00000394632.1_Missense_Mutation_p.F393S|STEAP2_ENST00000394621.2_Missense_Mutation_p.F393S|STEAP2_ENST00000394626.1_Missense_Mutation_p.F393S	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	393	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GAATTCAGTTTTATTCAGGTA	0.388																																																	0													162	170	167					7																	89859343		2203	4300	6503	SO:0001583	missense	0			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1178T>C	7.37:g.89859343T>C	ENSP00000287908:p.Phe393Ser		A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.F393S	ENST00000287908.3	37	c.1178	CCDS5615.1	7	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883152	0.91740	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	D;D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	5.93	5.93	0.95920	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.96241	0.8774	M	0.83384	2.64	0.80722	D	1	D;D;D	0.76494	0.994;0.996;0.999	D;D;D	0.79108	0.924;0.954;0.992	D	0.96721	0.9532	10	0.87932	D	0	-23.4371	16.3839	0.83495	0.0:0.0:0.0:1.0	.	393;393;393	G5E9C6;Q6YPB2;Q8NFT2	.;.;STEA2_HUMAN	S	393	ENSP00000287908:F393S;ENSP00000378123:F393S;ENSP00000378120:F393S;ENSP00000378128:F393S;ENSP00000378119:F393S;ENSP00000384191:F393S;ENSP00000378125:F393S	ENSP00000287908:F393S	F	+	2	0	STEAP2	89697279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.258000	0.74832	0.533000	0.62120	TTT	STEAP2	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000157214		0.388	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	HGNC	protein_coding	OTTHUMT00000059662.4	-	0	60	0	T	NM_152999		89859343	1	tier1	-	no_errors	ENST00000287908	ensembl	human	known	74_37	missense	15.91	73	14	SNP	1.000	C	C	89859343	T	C	89859343	3	2	12	1	0	0	0	0	1	0	0	0	15325	1841	64	4	1188	4	STEAP2	7	89859343	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	7273665	89859343	69279320	191	3294											
OR2AE1	81392	genome.wustl.edu	37	chr7	99474048	99474048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggggaggaggaggagaatGctgctgatgtacactgtggt	10	9	18	4	0	0	2	0	1	0	1	0	6	0	5	0	6	3	3	0	6	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:99474048G>T	ENST00000316368.2	-	1	632	c.609C>A	c.(607-609)agC>agA	p.S203R		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGAGGAGAATGCTGCTGATGT	0.483																																																	0													142	117	125					7																	99474048		2203	4300	6503	SO:0001583	missense	0			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.609C>A	7.37:g.99474048G>T	ENSP00000313936:p.Ser203Arg		B2RPD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S203R	ENST00000316368.2	37	c.609	CCDS34696.1	7	.	.	.	.	.	.	.	.	.	.	G	7.351	0.622908	0.14193	.	.	ENSG00000244623	ENST00000316368	T	0.39229	1.09	3.62	-2.47	0.06442	GPCR, rhodopsin-like superfamily (1);	0.764774	0.11109	N	0.598835	T	0.50103	0.1596	M	0.84773	2.715	0.09310	N	1	P	0.36354	0.549	B	0.42798	0.398	T	0.54262	-0.8320	10	0.87932	D	0	.	9.5588	0.39355	0.4887:0.0:0.5113:0.0	.	203	Q8NHA4	O2AE1_HUMAN	R	203	ENSP00000313936:S203R	ENSP00000313936:S203R	S	-	3	2	OR2AE1	99311984	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.105000	0.01339	-0.598000	0.05806	-0.387000	0.06579	AGC	OR2AE1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000244623		0.483	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AE1	HGNC	protein_coding	OTTHUMT00000345053.1		0	40	0	G			99474048	-1			no_errors	ENST00000316368	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.000	T	T	99474048	G	T	99474048	3	4	12	1	0	0	0	0	1	0	0	0	11022	1310	46	3	366	3	OR2AE1	7	99474048	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	9614705	99474048	59664615	192	3295											
LRCH4	4034	genome.wustl.edu	37	chr7	100183598	100183598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcagggtcccggtggcCacggcctcctctagggcccg	4	7	15	15	3	2	0	1	0	1	0	4	0	4	0	5	6	0	1	5	6	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:100183598C>T	ENST00000310300.6	-	1	178	c.126G>A	c.(124-126)gtG>gtA	p.V42V	FBXO24_ENST00000241071.6_5'Flank|FBXO24_ENST00000465843.1_5'Flank|LRCH4_ENST00000497245.1_5'Flank|FBXO24_ENST00000498195.1_Intron|FBXO24_ENST00000360609.2_5'Flank	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	42					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCGGTGGCCACGGCCTCCT	0.706																																																	0													25	29	27					7																	100183598		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.126G>A	7.37:g.100183598C>T			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.V42	ENST00000310300.6	37	c.126	CCDS34706.1	7																																																																																			LRCH4	-	NULL	ENSG00000077454		0.706	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	-	0	31	0	C	NM_002319		100183598	-1	tier1	-	no_errors	ENST00000310300	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T	T	100183598	C	T	100183598	2	4	12	1	0	0	0	0	0	0	0	1	8970	581	21	3		3	LRCH4	7	100183598	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	709550	100183598	58955065	193	3296											
FBXL13	222235	genome.wustl.edu	37	chr7	102604101	102604101	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcacatttttcactgaGgaaaaatcaatctaaaaaga	19	10	6	6	0	4	2	3	1	1	1	4	4	4	4	0	2	0	0	0	2	7	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:102604101G>T	ENST00000313221.4	-	8	1029	c.603C>A	c.(601-603)tcC>tcA	p.S201S	FBXL13_ENST00000455112.2_Silent_p.S201S|FBXL13_ENST00000379308.3_Silent_p.S201S|FBXL13_ENST00000379305.3_Silent_p.S201S|FBXL13_ENST00000393772.2_Silent_p.S201S|FBXL13_ENST00000456695.1_Silent_p.S201S|FBXL13_ENST00000379306.3_Silent_p.S201S|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000436908.1_Silent_p.S201S	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	201										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTTCACTGAGGAAAAATCAA	0.323																																																	0													53	57	56					7																	102604101		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.603C>A	7.37:g.102604101G>T			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Silent	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.S201	ENST00000313221.4	37	c.603	CCDS5726.1	7																																																																																			FBXL13	-	NULL	ENSG00000161040		0.323	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	-	0	82	0	G	NM_145032		102604101	-1	tier1	-	no_errors	ENST00000313221	ensembl	human	known	74_37	silent	17.46	52	11	SNP	0.007	T	T	102604101	G	T	102604101	2	4	12	1	0	0	0	0	0	0	0	1	5731	987	35	3		3	FBXL13	7	102604101	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	2420503	102604101	56534562	194	3297											
LAMB4	22798	genome.wustl.edu	37	chr7	107696447	107696447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctgccctgttacaatCacatgctaaaaaggaaaaca	16	8	7	10	0	1	0	1	0	0	0	1	1	1	1	2	2	5	3	2	2	8	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:107696447C>A	ENST00000388781.3	-	25	3468	c.3385G>T	c.(3385-3387)Gat>Tat	p.D1129Y	LAMB4_ENST00000205386.4_Missense_Mutation_p.D1129Y|LAMB4_ENST00000388780.3_Missense_Mutation_p.D1129Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1129	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGTTACAATCACATGCTAAA	0.502																																																	0													35	35	35					7																	107696447		2203	4298	6501	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3385G>T	7.37:g.107696447C>A	ENSP00000373433:p.Asp1129Tyr		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.D1129Y	ENST00000388781.3	37	c.3385	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085619	0.36758	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.62941	1.18;1.18;-0.01;-0.01	5.65	2.71	0.32032	EGF-like, laminin (4);	0.345603	0.24828	N	0.035268	T	0.76919	0.4055	M	0.86268	2.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.964	T	0.77297	-0.2640	10	0.87932	D	0	.	7.5343	0.27702	0.0:0.5831:0.0:0.4169	.	1129;1129	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	Y	1129;1129;155;1129	ENSP00000205386:D1129Y;ENSP00000373433:D1129Y;ENSP00000416562:D155Y;ENSP00000373432:D1129Y	ENSP00000205386:D1129Y	D	-	1	0	LAMB4	107483683	0.997000	0.39634	0.997000	0.53966	0.245000	0.25701	0.938000	0.28965	0.949000	0.37715	0.655000	0.94253	GAT	LAMB4	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000091128		0.502	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	45	0	C	XM_209857		107696447	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.994	A	A	107696447	C	A	107696447	3	1	12	1	0	0	0	0	1	0	0	0	8641	826	29	3	1940	3	LAMB4	7	107696447	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5092346	107696447	51442216	195	3298											
LRRN3	54674	genome.wustl.edu	37	chr7	110764718	110764718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataataccacaacacttatGgcctgtcttggaggccttct	11	12	7	11	0	2	0	0	0	2	0	2	1	2	1	3	3	2	0	3	3	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:110764718G>T	ENST00000422987.3	+	2	2721	c.1890G>T	c.(1888-1890)atG>atT	p.M630I	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.M630I|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.M630I	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	630					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAACACTTATGGCCTGTCTTG	0.413																																																	0													77	77	77					7																	110764718		2203	4300	6503	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1890G>T	7.37:g.110764718G>T	ENSP00000412417:p.Met630Ile		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.M630I	ENST00000422987.3	37	c.1890	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749895	0.15778	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.38887	1.11;1.11;1.11	5.87	4.92	0.64577	.	0.597033	0.16882	N	0.195668	T	0.22820	0.0551	N	0.10874	0.06	0.30161	N	0.802226	B	0.02656	0.0	B	0.01281	0.0	T	0.14364	-1.0475	10	0.11182	T	0.66	.	11.7662	0.51933	0.0:0.0:0.4658:0.5342	.	630	Q9H3W5	LRRN3_HUMAN	I	630	ENSP00000312001:M630I;ENSP00000397312:M630I;ENSP00000412417:M630I	ENSP00000312001:M630I	M	+	3	0	LRRN3	110551954	1.000000	0.71417	0.995000	0.50966	0.894000	0.52154	2.807000	0.47955	1.550000	0.49438	0.655000	0.94253	ATG	LRRN3	-	NULL	ENSG00000173114		0.413	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0	52	0	G	NM_018334		110764718	1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	T	T	110764718	G	T	110764718	3	4	12	1	0	0	0	0	1	0	0	0	9071	1348	47	3	1892	3	LRRN3	7	110764718	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	3068271	110764718	48373945	196	3299											
DOCK4	9732	genome.wustl.edu	37	chr7	111644111	111644111	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggctactcaccatcacacTtctccaggatctgaactgta	12	10	6	13	0	4	1	2	1	2	0	5	2	4	2	2	2	2	2	2	2	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:111644111T>G	ENST00000437633.1	-	2	369	c.113A>C	c.(112-114)aAg>aCg	p.K38T	DOCK4_ENST00000428084.1_Missense_Mutation_p.K38T|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	38	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCATCACACTTCTCCAGGAT	0.393																																																	0													109	100	103					7																	111644111		1912	4135	6047	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.113A>C	7.37:g.111644111T>G	ENSP00000404179:p.Lys38Thr		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.K38T	ENST00000437633.1	37	c.113	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.05|13.05	2.120086|2.120086	0.37436|0.37436	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.08370|.	3.1;3.1|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Src homology-3 domain (3);Variant SH3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72170|0.72170	0.3427|0.3427	M|M	0.71206|0.71206	2.165|2.165	0.80722|0.80722	D|D	1|1	D;D;D|.	0.67145|.	0.996;0.996;0.996|.	D;D;D|.	0.69824|.	0.93;0.966;0.966|.	T|T	0.72567|0.72567	-0.4254|-0.4254	10|5	0.33940|.	T|.	0.23|.	.|.	12.7674|12.7674	0.57399|0.57399	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	38;38;38|.	A4D0S8;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	T|R	26;38;38;26;37|26	ENSP00000410746:K38T;ENSP00000404179:K38T|.	ENSP00000345432:K26T|.	K|S	-|-	2|1	0|0	DOCK4|DOCK4	111431347|111431347	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.995000|6.995000	0.76257|0.76257	2.270000|2.270000	0.75569|0.75569	0.460000|0.460000	0.39030|0.39030	AAG|AGT	DOCK4	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000128512		0.393	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0	46	0	T	NM_014705		111644111	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	37.50	35	21	SNP	1.000	G	G	111644111	T	G	111644111	3	3	12	1	0	0	0	0	1	0	0	0	4703	1609	56	4	5991	4	DOCK4	7	111644111	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	879393	111644111	47494552	197	3300											
GPR37	2861	genome.wustl.edu	37	chr7	124386619	124386619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaagtggacatttcaCggcgtatggtactgaaaggc	14	8	12	7	2	1	1	1	1	0	0	1	2	1	2	0	4	2	3	0	4	6	3	rs199987277		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:124386619C>T	ENST00000303921.2	-	2	2452	c.1802G>A	c.(1801-1803)cGt>cAt	p.R601H		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	601					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)	p.R601P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACATTTCACGGCGTATGGT	0.438																																																	1	Substitution - Missense(1)	lung(1)						C	HIS/ARG	0,4406		0,0,2203	175	158	164		1802	5.3	0.7	7		164	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GPR37	NM_005302.2	29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	probably-damaging	601/614	124386619	5,13001	2203	4300	6503	SO:0001583	missense	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1802G>A	7.37:g.124386619C>T	ENSP00000306449:p.Arg601His		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.R601H	ENST00000303921.2	37	c.1802	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776835	0.70107	0.0	5.81E-4	ENSG00000170775	ENST00000303921	T	0.75704	-0.96	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000079	D	0.83801	0.5333	L	0.54323	1.7	0.41002	D	0.984934	D	0.89917	1.0	D	0.73380	0.98	D	0.85751	0.1343	10	0.87932	D	0	-16.3522	18.0541	0.89358	0.0:1.0:0.0:0.0	.	601	O15354	GPR37_HUMAN	H	601	ENSP00000306449:R601H	ENSP00000306449:R601H	R	-	2	0	GPR37	124173855	0.551000	0.26497	0.670000	0.29842	0.876000	0.50452	4.308000	0.59129	2.489000	0.83994	0.655000	0.94253	CGT	GPR37	-	NULL	ENSG00000170775		0.438	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1		0	34	0	C	NM_005302		124386619	-1			no_errors	ENST00000303921	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.707	T	T	124386619	C	T	124386619	3	4	12	1	0	0	0	0	1	0	0	0	6717	536	19	1	43	1	GPR37	7	124386619	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	12742508	124386619	34752044	198	3301											
PLXNA4	91584	genome.wustl.edu	37	chr7	132174198	132174198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccaggggagcattcatGtccaggccacagaagttatc	11	8	10	12	0	1	1	1	0	0	1	4	2	3	2	3	3	1	2	3	3	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:132174198G>T	ENST00000359827.3	-	3	2186	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	PLXNA4_ENST00000423507.2_Missense_Mutation_p.D408E|PLXNA4_ENST00000378539.5_Missense_Mutation_p.D408E|PLXNA4_ENST00000321063.4_Missense_Mutation_p.D408E			Q9HCM2	PLXA4_HUMAN	plexin A4	408	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGCATTCATGTCCAGGCCAC	0.468																																																	0													78	71	73					7																	132174198		2203	4300	6503	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1224C>A	7.37:g.132174198G>T	ENSP00000352882:p.Asp408Glu		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D408E	ENST00000359827.3	37	c.1224	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044539	0.55110	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.23	2.84	0.33178	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	U	0.000004	T	0.04679	0.0127	L	0.37561	1.115	0.54753	D	0.999985	B;B;B	0.19331	0.001;0.018;0.035	B;B;B	0.29176	0.009;0.099;0.05	T	0.44065	-0.9352	10	0.22706	T	0.39	.	7.5859	0.27993	0.576:0.0:0.424:0.0	.	408;408;408	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	E	408	ENSP00000323194:D408E;ENSP00000352882:D408E;ENSP00000392772:D408E;ENSP00000367800:D408E	ENSP00000323194:D408E	D	-	3	2	PLXNA4	131824738	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.423000	0.44705	0.430000	0.26230	0.655000	0.94253	GAC	PLXNA4	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000221866		0.468	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	51	0	G	NM_181775		132174198	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T	T	132174198	G	T	132174198	3	4	12	1	0	0	0	0	1	0	0	0	12161	1368	48	3	4894	3	PLXNA4	7	132174198	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	7787579	132174198	26964465	199	3302											
CHRM2	1129	genome.wustl.edu	37	chr7	136700565	136700565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccattccaaagatgAgaactctaagcaaacatgca	15	7	8	11	0	1	2	0	1	1	2	2	3	2	2	3	1	4	2	3	1	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:136700565A>G	ENST00000445907.2	+	3	1481	c.953A>G	c.(952-954)gAg>gGg	p.E318G	hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.E318G|CHRM2_ENST00000401861.1_Missense_Mutation_p.E318G|CHRM2_ENST00000453373.1_Missense_Mutation_p.E318G|CHRM2_ENST00000402486.3_Missense_Mutation_p.E318G|CHRM2_ENST00000320658.5_Missense_Mutation_p.E318G|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	318					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCCAAAGATGAGAACTCTAAG	0.468																																																	0													97	99	98					7																	136700565		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.953A>G	7.37:g.136700565A>G	ENSP00000399745:p.Glu318Gly		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.E318G	ENST00000445907.2	37	c.953	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	A	6.986	0.551949	0.13374	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.180851	0.37012	N	0.002300	T	0.35828	0.0945	N	0.04508	-0.205	0.36960	D	0.893275	B	0.02656	0.0	B	0.09377	0.004	T	0.33033	-0.9884	10	0.23302	T	0.38	-5.9838	15.427	0.75061	1.0:0.0:0.0:0.0	.	318	P08172	ACM2_HUMAN	G	318	ENSP00000399745:E318G;ENSP00000415386:E318G;ENSP00000319984:E318G;ENSP00000380733:E318G;ENSP00000384937:E318G;ENSP00000384401:E318G	ENSP00000319984:E318G	E	+	2	0	CHRM2	136351105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.169000	0.58223	2.055000	0.61198	0.533000	0.62120	GAG	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt	ENSG00000181072		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	43	0	A			136700565	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	G	G	136700565	A	G	136700565	3	3	12	1	0	0	0	0	1	0	0	0	3384	304	11	4	955	4	CHRM2	7	136700565	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	4526367	136700565	22438098	200	3303											
DGKI	9162	genome.wustl.edu	37	chr7	137237262	137237262	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtaagttagaagcatgActtctcgacactggtgtagc	11	13	10	7	1	1	2	0	1	1	1	2	3	1	2	0	1	2	4	0	1	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:137237262A>C	ENST00000288490.5	-	20	2000	c.2000T>G	c.(1999-2001)gTc>gGc	p.V667G	DGKI_ENST00000453654.2_Missense_Mutation_p.V367G|DGKI_ENST00000446122.1_Missense_Mutation_p.V667G|DGKI_ENST00000424189.2_Missense_Mutation_p.V667G	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	667					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TAGAAGCATGACTTCTCGACA	0.498																																																	0													131	127	128					7																	137237262		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2000T>G	7.37:g.137237262A>C	ENSP00000288490:p.Val667Gly		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V667G	ENST00000288490.5	37	c.2000	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563616	0.86335	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.35789	1.29;1.29;1.29	5.44	5.44	0.79542	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.90650	3.135	0.80722	D	1	D;D	0.67145	0.986;0.996	D;D	0.70016	0.936;0.967	T	0.75147	-0.3420	10	0.87932	D	0	.	15.804	0.78477	1.0:0.0:0.0:0.0	.	367;667	E9PFX6;O75912	.;DGKI_HUMAN	G	367;615;667;667;667	ENSP00000392161:V367G;ENSP00000288490:V667G;ENSP00000399131:V667G	ENSP00000288490:V667G	V	-	2	0	DGKI	136887802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.488000	0.81441	2.193000	0.70182	0.533000	0.62120	GTC	DGKI	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000157680		0.498	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	45	0	A	NM_004717		137237262	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	25.93	40	14	SNP	1.000	C	C	137237262	A	C	137237262	3	2	12	1	0	0	0	0	1	0	0	0	4485	275	10	4	1257	4	DGKI	7	137237262	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	536697	137237262	21901401	201	3304											
DGKI	9162	genome.wustl.edu	37	chr7	137339488	137339488	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatactcacttctcttggtGaccttgagcctccttctcga	8	14	6	13	1	3	2	1	2	2	0	6	3	4	2	3	1	2	0	3	1	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:137339488G>T	ENST00000288490.5	-	5	728	c.728C>A	c.(727-729)tCa>tAa	p.S243*	DGKI_ENST00000453654.2_5'UTR|DGKI_ENST00000446122.1_Nonsense_Mutation_p.S243*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.S243*	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	243					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTCTTGGTGACCTTGAGCC	0.328																																																	0													115	104	108					7																	137339488		2203	4300	6503	SO:0001587	stop_gained	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.728C>A	7.37:g.137339488G>T	ENSP00000288490:p.Ser243*		A4D1Q9|Q9NZ49	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S243*	ENST00000288490.5	37	c.728	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.665024	0.98419	.	.	ENSG00000157680	ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	.	.	.	5.85	5.85	0.93711	.	0.055383	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	17.0943	0.86630	0.0:0.0:1.0:0.0	.	.	.	.	X	191;243;243;243	.	ENSP00000288490:S243X	S	-	2	0	DGKI	136990028	0.994000	0.37717	0.997000	0.53966	0.987000	0.75469	1.746000	0.38288	2.771000	0.95319	0.561000	0.74099	TCA	DGKI	-	NULL	ENSG00000157680		0.328	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	41	0	G	NM_004717		137339488	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T	T	137339488	G	T	137339488	4	4	12	1	0	0	0	0	0	1	0	0	4485	1294	45	3	2589	3	DGKI	7	137339488	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	102226	137339488	21799175	202	3305											
EPHB6	2051	genome.wustl.edu	37	chr7	142567600	142567600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttgcttcgctgggcagccCcagaggtcattgcacatgga	7	10	13	11	1	1	1	1	0	0	1	2	2	1	2	2	3	3	5	2	3	0	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:142567600C>A	ENST00000392957.2	+	17	3275	c.2488C>A	c.(2488-2490)Cca>Aca	p.P830T	EPHB6_ENST00000442129.1_Missense_Mutation_p.P830T|EPHB6_ENST00000411471.2_Missense_Mutation_p.P553T	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	830	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGGGCAGCCCCAGAGGTCAT	0.448																																																	0													103	91	95					7																	142567600		2203	4300	6503	SO:0001583	missense	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2488C>A	7.37:g.142567600C>A	ENSP00000376684:p.Pro830Thr		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P830T	ENST00000392957.2	37	c.2488	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916067	0.92178	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	D;D;D	0.89875	-2.58;-2.58;-2.58	5.69	5.69	0.88448	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46442	D	0.000300	D	0.97065	0.9041	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98358	1.0547	10	0.87932	D	0	.	18.8176	0.92084	0.0:1.0:0.0:0.0	.	830;553	O15197;O15197-2	EPHB6_HUMAN;.	T	830;830;553	ENSP00000376684:P830T;ENSP00000410789:P830T;ENSP00000409061:P553T	ENSP00000376684:P830T	P	+	1	0	EPHB6	142277722	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.676000	0.84012	2.682000	0.91365	0.563000	0.77884	CCA	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000106123		0.448	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	-	0	47	0	C			142567600	1	tier1	-	no_errors	ENST00000392957	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	A	A	142567600	C	A	142567600	3	1	12	1	0	0	0	0	1	0	0	0	5194	623	22	3	2538	3	EPHB6	7	142567600	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5228112	142567600	16571063	203	3306											
ACTR3B	57180	genome.wustl.edu	37	chr7	152549293	152549293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagagagtggtggatgCtaggctgaggctcagcgagg	9	9	18	5	1	1	3	1	2	0	1	1	6	1	4	0	5	2	3	0	5	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:152549293C>T	ENST00000256001.8	+	10	1168	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000537264.1_Missense_Mutation_p.A257V|ACTR3B_ENST00000397282.2_Missense_Mutation_p.A257V	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	345						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.A345V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GTGGTGGATGCTAGGCTGAGG	0.602																																																	1	Substitution - Missense(1)	lung(1)											105	100	102					7																	152549293		2203	4300	6503	SO:0001583	missense	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1034C>T	7.37:g.152549293C>T	ENSP00000256001:p.Ala345Val		A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.A345V	ENST00000256001.8	37	c.1034	CCDS5934.1	7	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140118	0.37825	.	.	ENSG00000133627	ENST00000256001;ENST00000397282;ENST00000537264	T;T;T	0.07021	3.23;3.23;3.23	5.35	5.35	0.76521	.	0.000000	0.56097	U	0.000026	T	0.17323	0.0416	M	0.82823	2.61	0.46981	D	0.999274	B	0.15930	0.015	B	0.16722	0.016	T	0.01879	-1.1255	10	0.46703	T	0.11	-8.6203	17.6707	0.88216	0.0:1.0:0.0:0.0	.	345	Q9P1U1	ARP3B_HUMAN	V	345;257;257	ENSP00000256001:A345V;ENSP00000380452:A257V;ENSP00000446157:A257V	ENSP00000256001:A345V	A	+	2	0	ACTR3B	152180226	1.000000	0.71417	0.902000	0.35471	0.169000	0.22640	5.490000	0.66881	2.491000	0.84063	0.557000	0.71058	GCT	ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.602	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0	86	0	C	NM_020445		152549293	1	tier1	-	no_errors	ENST00000256001	ensembl	human	known	74_37	missense	7.61	85	7	SNP	1.000	T	T	152549293	C	T	152549293	3	4	12	1	0	0	0	0	1	0	0	0	213	797	28	3	1072	3	ACTR3B	7	152549293	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	9981693	152549293	6589370	204	3307											
MNX1	3110	genome.wustl.edu	37	chr7	156803027	156803027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagggcgtcgatgcggaaAtttttggatttttccatcgg	8	13	13	7	4	0	0	0	0	0	0	3	3	1	2	1	4	2	1	1	4	1	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:156803027A>G	ENST00000252971.6	-	1	318	c.18T>C	c.(16-18)aaT>aaC	p.N6N	MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000543409.1_5'Flank|MNX1_ENST00000469500.1_5'Flank	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	6					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGATGCGGAAATTTTTGGATT	0.716																																																	0													8	10	10					7																	156803027		1656	3160	4816	SO:0001819	synonymous_variant	0			AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"Homeoboxes / ANTP class : HOXL subclass"	4979	protein-coding gene	gene with protein product		142994	"homeo box HB9", "homeobox HB9"	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.18T>C	7.37:g.156803027A>G			F5H401|Q9Y648	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.N6	ENST00000252971.6	37	c.18	CCDS34788.1	7																																																																																			MNX1	-	NULL	ENSG00000130675		0.716	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNX1	HGNC	protein_coding	OTTHUMT00000347796.3	-	0	74	0	A			156803027	-1	tier1	-	no_errors	ENST00000252971	ensembl	human	known	74_37	silent	13.04	80	12	SNP	1.000	G	G	156803027	A	G	156803027	2	3	12	1	0	0	0	0	0	0	0	1	9717	98	4	4		4	MNX1	7	156803027	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	4253734	156803027	2335636	205	3308											
UBE3C	9690	genome.wustl.edu	37	chr7	157046813	157046813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcctcgagtggctccgaAtgtttgatcagcaagaaatt	11	11	10	9	2	2	2	2	1	0	1	4	4	3	2	2	1	2	3	2	1	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr7:157046813A>G	ENST00000348165.5	+	20	3220	c.2860A>G	c.(2860-2862)Atg>Gtg	p.M954V		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	954	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTGGCTCCGAATGTTTGATCA	0.517																																																	0													55	53	54					7																	157046813		2203	4300	6503	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2860A>G	7.37:g.157046813A>G	ENSP00000309198:p.Met954Val		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.M954V	ENST00000348165.5	37	c.2860	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167939	0.57476	.	.	ENSG00000009335	ENST00000348165	T	0.56275	0.47	5.31	5.31	0.75309	HECT (4);	0.071673	0.85682	D	0.000000	T	0.56949	0.2020	L	0.48935	1.535	0.80722	D	1	P;P	0.36110	0.537;0.537	P;P	0.45406	0.479;0.479	T	0.60791	-0.7193	10	0.66056	D	0.02	.	15.5565	0.76200	1.0:0.0:0.0:0.0	.	954;807	Q15386;B4DHJ9	UBE3C_HUMAN;.	V	954	ENSP00000309198:M954V	ENSP00000309198:M954V	M	+	1	0	UBE3C	156739574	1.000000	0.71417	0.928000	0.36995	0.898000	0.52572	8.813000	0.91963	2.143000	0.66587	0.533000	0.62120	ATG	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000009335		0.517	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1		0	54	0	A	NM_014671		157046813	1			no_errors	ENST00000348165	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.998	G	G	157046813	A	G	157046813	3	3	12	1	0	0	0	0	1	0	0	0	16930	101	4	4	2938	4	UBE3C	7	157046813	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	243786	157046813	2091850	206	3309											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1900950	1900950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagcctgggagtcctcgtGgccctgccggtcccacgtct	4	8	12	17	3	1	0	0	0	1	0	4	1	3	1	6	3	2	0	6	3	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:1900950G>A	ENST00000398564.1	+	28	3552	c.3552G>A	c.(3550-3552)gtG>gtA	p.V1184V	ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000518288.1_Silent_p.V1183V|ARHGEF10_ENST00000349830.3_Silent_p.V1159V|ARHGEF10_ENST00000520359.1_Silent_p.V1121V|ARHGEF10_ENST00000262112.6_Silent_p.V1155V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1184					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GAGTCCTCGTGGCCCTGCCGG	0.637																																																	0													55	55	55					8																	1900950		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3552G>A	8.37:g.1900950G>A			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.V1184	ENST00000398564.1	37	c.3552		8																																																																																			ARHGEF10	-	NULL	ENSG00000104728		0.637	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		-	0	137	0	G			1900950	1	tier1	-	no_errors	ENST00000398564	ensembl	human	known	74_37	silent	6.50	185	13	SNP	0.931	A	A	1900950	G	A	1900950	2	1	12	1	0	0	0	0	0	0	0	1	894	1335	47	3		3	ARHGEF10	8	1900950	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09		1900950	144463072	207	3310											
XKR5	389610	genome.wustl.edu	37	chr8	6669805	6669805	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttaggcagccctgccaGatgtctgtggattttggatg	6	14	12	9	0	1	1	0	0	1	1	2	3	2	3	3	3	2	1	3	3	1	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:6669805G>T	ENST00000518724.1	-	0	1126							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCTGCCAGATGTCTGTGG	0.473																																																	0													23	23	23					8																	6669805		1856	4057	5913			0			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669805G>T			Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-	ENSG00000186530		0.473	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	-	0	46	0	G	NM_207411		6669805	-1	tier1	-	no_errors	ENST00000405979	ensembl	human	known	74_37	rna	5.71	66	4	SNP	0.991	T	T	6669805	G	T	6669805	1	4	12	0	1	0	0	0	0	0	0	0	17483	932	33	3		3	XKR5	8	6669805	RNA	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4768855	6669805	139694217	208	3311											
ADAM28	10863	genome.wustl.edu	37	chr8	24167440	24167440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaattaaagtataaaatgAcaattaatggaaaaattgca	21	11	6	3	0	0	2	0	2	0	0	0	3	0	3	0	1	1	2	0	1	10	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:24167440A>G	ENST00000265769.4	+	3	294	c.184A>G	c.(184-186)Aca>Gca	p.T62A	ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.T62A|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	62					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTATAAAATGACAATTAATGG	0.279																																					NSCLC(193;488 2149 22258 34798 40734)												0													51	61	58					8																	24167440		2192	4296	6488	SO:0001583	missense	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.184A>G	8.37:g.24167440A>G	ENSP00000265769:p.Thr62Ala		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T62A	ENST00000265769.4	37	c.184	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	A	13.64	2.298105	0.40694	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.06608	3.28;3.28	4.51	4.51	0.55191	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.08223	0.0205	L	0.60012	1.86	0.80722	D	1	B;B	0.20164	0.042;0.026	B;B	0.25506	0.061;0.015	T	0.14699	-1.0463	9	0.20046	T	0.44	.	10.5279	0.44960	1.0:0.0:0.0:0.0	.	62;62	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	A	62	ENSP00000265769:T62A;ENSP00000393699:T62A	ENSP00000265769:T62A	T	+	1	0	ADAM28	24223385	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.409000	0.44583	2.251000	0.74343	0.528000	0.53228	ACA	ADAM28	-	pfam_Peptidase_M12B_N	ENSG00000042980		0.279	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	-	0	87	0	A	NM_021778		24167440	1	tier1	-	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G	G	24167440	A	G	24167440	3	3	12	1	0	0	0	0	1	0	0	0	246	275	10	4	194	4	ADAM28	8	24167440	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	17497635	24167440	122196582	209	3312											
ADRA1A	148	genome.wustl.edu	37	chr8	26627672	26627672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatctttcctgtcctagacTtcctccccgttctcactgag	5	14	6	16	1	2	2	1	1	2	1	7	2	6	2	5	0	0	2	5	0	1	4	rs2229126	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:26627672T>G	ENST00000380573.3	-	3	2418	c.1395A>C	c.(1393-1395)gaA>gaC	p.E465D	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.E465D			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGTCCTAGACTTCCTCCCCGT	0.532																																																	0													197	195	196					8																	26627672		2203	4300	6503	SO:0001583	missense	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380573.3:c.1395A>C	8.37:g.26627672T>G	ENSP00000369947:p.Glu465Asp		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.E465D	ENST00000380573.3	37	c.1395	CCDS6054.1	8	.	.	.	.	.	.	.	.	.	.	T	10.14	1.267754	0.23136	.	.	ENSG00000120907	ENST00000276393;ENST00000380573	T;T	0.61742	0.08;0.08	5.85	2.11	0.27256	.	.	.	.	.	T	0.38852	0.1056	L	0.44542	1.39	0.09310	P	1.0	B	0.02656	0.0	B	0.01281	0.0	T	0.27400	-1.0075	8	0.13470	T	0.59	.	0.2537	0.00209	0.3616:0.1964:0.1414:0.3006	.	465	P35348	ADA1A_HUMAN	D	465	ENSP00000276393:E465D;ENSP00000369947:E465D	ENSP00000276393:E465D	E	-	3	2	ADRA1A	26683589	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	0.246000	0.18160	0.444000	0.26612	-0.290000	0.09829	GAA	ADRA1A	-	NULL	ENSG00000120907		0.532	ADRA1A-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376208.1	-	0	61	0	T	NM_033303		26627672	-1	tier1	-	no_errors	ENST00000276393	ensembl	human	known	74_37	missense	31.15	42	19	SNP	0.997	G	G	26627672	T	G	26627672	3	3	12	1	0	0	0	0	1	0	0	0	334	1606	56	4	300	4	ADRA1A	8	26627672	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2460232	26627672	119736350	210	3313											
SCARA5	286133	genome.wustl.edu	37	chr8	27779320	27779320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggctgtggttgaggccGcgcagcacgccgcccacgtc	6	5	15	15	5	0	1	0	1	0	0	1	2	0	1	3	3	1	4	3	3	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:27779320G>A	ENST00000354914.3	-	4	1169	c.684C>T	c.(682-684)cgC>cgT	p.R228R	SCARA5_ENST00000301906.4_Silent_p.R185R|SCARA5_ENST00000524352.1_Silent_p.R228R|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000518030.1_Silent_p.R185R	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	228					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGTTGAGGCCGCGCAGCACGC	0.751																																																	0													10	12	12					8																	27779320		2155	4194	6349	SO:0001819	synonymous_variant	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.684C>T	8.37:g.27779320G>A			Q6UXZ1|Q7Z4A1|Q8N4Z7	Silent	SNP	pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.R228	ENST00000354914.3	37	c.684	CCDS6064.1	8																																																																																			SCARA5	-	NULL	ENSG00000168079		0.751	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	HGNC	protein_coding	OTTHUMT00000255223.2		0	13	0	G	NM_173833		27779320	-1			no_errors	ENST00000354914	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.364	A	A	27779320	G	A	27779320	2	1	12	1	0	0	0	0	0	0	0	1	13925	1074	38	1		1	SCARA5	8	27779320	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1151648	27779320	118584702	211	3314											
GSR	2936	genome.wustl.edu	37	chr8	30550496	30550496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactgtacctgggagaacTtcagcacctccacgccagcg	9	6	11	15	2	1	1	1	0	0	1	2	2	2	1	4	2	4	3	4	2	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:30550496T>A	ENST00000221130.5	-	8	962	c.872A>T	c.(871-873)aAg>aTg	p.K291M	GSR_ENST00000414019.1_Missense_Mutation_p.K248M|GSR_ENST00000546342.1_Intron|GSR_ENST00000541648.1_Missense_Mutation_p.K291M|GSR_ENST00000537535.1_Intron	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	291					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CTGGGAGAACTTCAGCACCTC	0.512																																																	0													143	122	130					8																	30550496		2203	4300	6503	SO:0001583	missense	0				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.872A>T	8.37:g.30550496T>A	ENSP00000221130:p.Lys291Met		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.K291M	ENST00000221130.5	37	c.872	CCDS34877.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.88|18.88	3.716712|3.716712	0.68844|0.68844	.|.	.|.	ENSG00000104687|ENSG00000104687	ENST00000520888|ENST00000221130;ENST00000414019;ENST00000541648	.|T;T;T	.|0.57107	.|0.42;0.42;0.42	5.11|5.11	2.7|2.7	0.31948|0.31948	.|Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	.|0.090924	.|0.85682	.|D	.|0.000000	T|T	0.57242|0.57242	0.2040|0.2040	L|L	0.45744|0.45744	1.44|1.44	0.80722|0.80722	D|D	1|1	.|P	.|0.51057	.|0.941	.|P	.|0.60415	.|0.874	T|T	0.56414|0.56414	-0.7983|-0.7983	5|10	.|0.62326	.|D	.|0.03	-32.6716|-32.6716	6.9383|6.9383	0.24478|0.24478	0.0:0.1898:0.0:0.8102|0.0:0.1898:0.0:0.8102	.|.	.|291	.|P00390	.|GSHR_HUMAN	D|M	244|291;248;291	.|ENSP00000221130:K291M;ENSP00000390065:K248M;ENSP00000444559:K291M	.|ENSP00000221130:K291M	E|K	-|-	3|2	2|0	GSR|GSR	30670038|30670038	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.975000|0.975000	0.68041|0.68041	1.059000|1.059000	0.30517|0.30517	0.805000|0.805000	0.34159|0.34159	0.460000|0.460000	0.39030|0.39030	GAA|AAG	GSR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Glutathione_Rdtase_euk/bac	ENSG00000104687		0.512	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1	-	0	41	0	T			30550496	-1	tier1	-	no_errors	ENST00000221130	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	30550496	T	A	30550496	3	1	12	1	0	0	0	0	1	0	0	0	6855	1609	56	5	720	5	GSR	8	30550496	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2771176	30550496	115813526	212	3315											
IDO2	169355	genome.wustl.edu	37	chr8	39840171	39840171	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggatttatatctgaaagGtcctgccaaggaatcttgcc	10	13	9	9	0	3	1	0	1	3	0	4	3	4	3	3	3	2	0	3	3	5	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:39840171G>A	ENST00000389060.4	+	4	316	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	IDO2_ENST00000502986.2_Splice_Site_p.V119I|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	106					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TATCTGAAAGGTCCTGCCAAG	0.463																																																	0													60	59	59					8																	39840171		1871	4097	5968	SO:0001630	splice_region_variant	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.316-1G>A	8.37:g.39840171G>A			A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.V119I	ENST00000389060.4	37	c.355		8	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415721	0.25552	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.46451	0.87;0.87	5.81	1.97	0.26223	.	0.340620	0.31747	N	0.007123	T	0.27489	0.0675	L	0.41356	1.27	0.27908	N	0.938731	B	0.18310	0.027	B	0.17433	0.018	T	0.15378	-1.0439	9	.	.	.	.	4.4771	0.11748	0.2473:0.0:0.5978:0.1549	.	119	F5H5G0	.	I	119;106	ENSP00000443432:V119I;ENSP00000426447:V106I	.	V	+	1	0	IDO2	39959328	1.000000	0.71417	0.720000	0.30636	0.367000	0.29736	1.480000	0.35464	0.078000	0.16900	0.467000	0.42956	GTC	IDO2	-	pfam_Indolamine_dOase	ENSG00000188676		0.463	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	-	0	50	0	G	NM_194294	Missense_Mutation	39840171	1	tier1	-	no_errors	ENST00000502986	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.964	A	A	39840171	G	A	39840171	5	1	12	1	0	0	0	0	0	0	1	0	7529	1275	44	3	373	3	IDO2	8	39840171	Splice_Site	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	9289675	39840171	106523851	213	3316											
SNTG1	54212	genome.wustl.edu	37	chr8	51503460	51503460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaaaaaatcaacagaaacTttcctgtaaaccagcaggta	19	9	5	8	0	1	1	1	0	0	1	2	1	2	1	2	1	4	3	2	1	9	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:51503460T>G	ENST00000522124.1	+	13	1493	c.832T>G	c.(832-834)Ttt>Gtt	p.F278V	SNTG1_ENST00000276467.5_Missense_Mutation_p.F278V|SNTG1_ENST00000518864.1_Missense_Mutation_p.F278V|SNTG1_ENST00000517473.1_Missense_Mutation_p.F278V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	278					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAACAGAAACTTTCCTGTAAA	0.279																																																	0													22	23	23					8																	51503460		2188	4267	6455	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.832T>G	8.37:g.51503460T>G	ENSP00000429842:p.Phe278Val		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.F278V	ENST00000522124.1	37	c.832	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279955	0.40294	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.27256	1.68;1.68;2.39;2.39	4.78	4.78	0.61160	.	0.047406	0.85682	D	0.000000	T	0.26304	0.0642	L	0.59436	1.845	0.80722	D	1	B;B	0.21821	0.061;0.035	B;B	0.23716	0.048;0.027	T	0.05115	-1.0905	10	0.40728	T	0.16	.	10.726	0.46068	0.0:0.0:0.0:1.0	.	278;278	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	278	ENSP00000429276:F278V;ENSP00000429842:F278V;ENSP00000431123:F278V;ENSP00000276467:F278V	ENSP00000276467:F278V	F	+	1	0	SNTG1	51666013	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	4.066000	0.57520	1.791000	0.52520	0.528000	0.53228	TTT	SNTG1	-	NULL	ENSG00000147481		0.279	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0	111	0	T			51503460	1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	12.93	100	15	SNP	1.000	G	G	51503460	T	G	51503460	3	3	12	1	0	0	0	0	1	0	0	0	14919	1609	56	4	874	4	SNTG1	8	51503460	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	11663289	51503460	94860562	214	3317											
RP1	6101	genome.wustl.edu	37	chr8	55540671	55540671	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgaaaaagaagcagaacTtgataagaaacatagttctc	20	8	8	5	0	1	5	0	2	1	3	2	5	1	5	0	0	3	2	0	0	8	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:55540671T>G	ENST00000220676.1	+	4	4377	c.4229T>G	c.(4228-4230)cTt>cGt	p.L1410R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1410					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAGCAGAACTTGATAAGAAA	0.343																																					Colon(91;1014 1389 7634 14542 40420)												0													51	57	55					8																	55540671		2199	4298	6497	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4229T>G	8.37:g.55540671T>G	ENSP00000220676:p.Leu1410Arg			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L1410R	ENST00000220676.1	37	c.4229	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	T	4.998	0.185387	0.09495	.	.	ENSG00000104237	ENST00000220676	T	0.21932	1.98	5.48	4.33	0.51752	.	0.790403	0.11116	N	0.597998	T	0.15825	0.0381	L	0.27053	0.805	0.09310	N	1	B	0.32693	0.38	B	0.32465	0.146	T	0.22487	-1.0215	10	0.72032	D	0.01	-0.064	7.4679	0.27332	0.0:0.0997:0.0:0.9003	.	1410	P56715	RP1_HUMAN	R	1410	ENSP00000220676:L1410R	ENSP00000220676:L1410R	L	+	2	0	RP1	55703224	0.000000	0.05858	0.005000	0.12908	0.091000	0.18340	-0.212000	0.09319	0.923000	0.37045	0.533000	0.62120	CTT	RP1	-	NULL	ENSG00000104237		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	42	0	T	NM_006269		55540671	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.003	G	G	55540671	T	G	55540671	3	3	12	1	0	0	0	0	1	0	0	0	13577	1609	56	4	4239	4	RP1	8	55540671	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	4037211	55540671	90823351	215	3318											
CHD7	55636	genome.wustl.edu	37	chr8	61655225	61655225	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcactcctcctccaCaagtcaggccgggaagtgct	9	6	11	15	1	1	0	1	0	0	0	4	1	4	1	4	3	2	3	4	3	2	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:61655225C>T	ENST00000423902.2	+	2	1713	c.1234C>T	c.(1234-1236)Caa>Taa	p.Q412*	CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q412*|CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q412*	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	412	Pro-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCTCCTCCACAAGTCAGGCC	0.532																																																	0													116	116	116					8																	61655225		2043	4187	6230	SO:0001587	stop_gained	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.1234C>T	8.37:g.61655225C>T	ENSP00000392028:p.Gln412*		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q412*	ENST00000423902.2	37	c.1234	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	42	9.623058	0.99221	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	.	.	.	5.54	5.54	0.83059	.	0.000000	0.39834	N	0.001247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6451	19.486	0.95028	0.0:1.0:0.0:0.0	.	.	.	.	X	412	.	ENSP00000307304:Q412X	Q	+	1	0	CHD7	61817779	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	6.553000	0.73918	2.628000	0.89032	0.563000	0.77884	CAA	CHD7	-	NULL	ENSG00000171316		0.532	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2		0	52	0	C	XM_098762		61655225	1			no_errors	ENST00000423902	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	1.000	T	T	61655225	C	T	61655225	4	4	12	1	0	0	0	0	0	1	0	0	3337	479	17	3	1236	3	CHD7	8	61655225	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	6114554	61655225	84708797	216	3319											
SULF1	23213	genome.wustl.edu	37	chr8	70512986	70512986	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggatgattctgtggagAgggtaagcacatgaacctac	12	9	13	7	0	1	3	0	2	1	1	1	5	1	4	1	3	3	2	1	3	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:70512986A>C	ENST00000260128.4	+	9	1600	c.883A>C	c.(883-885)Agg>Cgg	p.R295R	SULF1_ENST00000419716.3_Silent_p.R295R|SULF1_ENST00000402687.4_Silent_p.R295R|SULF1_ENST00000458141.2_Silent_p.R295R|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	295					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCTGTGGAGAGGGTAAGCAC	0.443																																																	0													152	146	148					8																	70512986		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.883A>C	8.37:g.70512986A>C			Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R295	ENST00000260128.4	37	c.883	CCDS6204.1	8																																																																																			SULF1	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.443	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	76	0	A	NM_015170		70512986	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	silent	27.27	56	21	SNP	1.000	C	C	70512986	A	C	70512986	2	2	12	1	0	0	0	0	0	0	0	1	15417	295	11	4		4	SULF1	8	70512986	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	8857761	70512986	75851036	217	3320											
TRPA1	8989	genome.wustl.edu	37	chr8	72964838	72964838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagacagtgtacctttTgctcctgatgatcgtaagaa	12	11	10	8	1	0	4	0	2	0	2	2	5	1	5	2	1	2	3	2	1	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:72964838T>C	ENST00000262209.4	-	14	2014	c.1807A>G	c.(1807-1809)Aaa>Gaa	p.K603E	RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	603					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTGTACCTTTTGCTCCTGATG	0.428																																																	0													127	112	117					8																	72964838		2203	4300	6503	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1807A>G	8.37:g.72964838T>C	ENSP00000262209:p.Lys603Glu		A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K603E	ENST00000262209.4	37	c.1807	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	T	3.326	-0.137673	0.06711	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.42513	0.97;1.08	4.98	-0.886	0.10590	.	0.357798	0.36591	N	0.002519	T	0.21267	0.0512	L	0.31845	0.965	0.29155	N	0.87812	B	0.13594	0.008	B	0.10450	0.005	T	0.32214	-0.9915	10	0.05620	T	0.96	.	6.1312	0.20207	0.0:0.1457:0.4106:0.4437	.	603	O75762	TRPA1_HUMAN	E	455;603	ENSP00000428151:K455E;ENSP00000262209:K603E	ENSP00000262209:K603E	K	-	1	0	TRPA1	73127392	0.991000	0.36638	0.391000	0.26233	0.540000	0.34992	2.296000	0.43584	0.004000	0.14682	-0.449000	0.05564	AAA	TRPA1	-	smart_Ankyrin_rpt	ENSG00000104321		0.428	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	42	0	T	NM_007332		72964838	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.712	C	C	72964838	T	C	72964838	3	2	12	1	0	0	0	0	1	0	0	0	16625	1821	63	4	1608	4	TRPA1	8	72964838	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2451852	72964838	73399184	218	3321											
IL7	3574	genome.wustl.edu	37	chr8	79652243	79652243	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataattatcattaccttattAgcatcacagatatgtctttt	13	18	3	7	0	3	1	2	0	1	1	3	1	3	1	1	0	2	1	1	0	6	8			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:79652243A>G	ENST00000263851.4	-	3	822	c.222T>C	c.(220-222)gcT>gcC	p.A74A	IL7_ENST00000520269.1_Silent_p.A74A|IL7_ENST00000519833.1_5'UTR|IL7_ENST00000541183.1_Silent_p.A23A	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	74					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						TTACCTTATTAGCATCACAGA	0.259																																																	0													42	44	43					8																	79652243		2188	4277	6465	SO:0001819	synonymous_variant	0			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.222T>C	8.37:g.79652243A>G			A0N0L3|Q5FBY5|Q5FBY9	Silent	SNP	pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7	p.A74	ENST00000263851.4	37	c.222	CCDS6224.1	8																																																																																			IL7	-	pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7	ENSG00000104432		0.259	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7	HGNC	protein_coding	OTTHUMT00000379429.1	-	0	28	0	A			79652243	-1	tier1	-	no_errors	ENST00000263851	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	G	G	79652243	A	G	79652243	2	3	12	1	0	0	0	0	0	0	0	1	7731	407	15	4		4	IL7	8	79652243	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	6687405	79652243	66711779	219	3322											
RIMS2	9699	genome.wustl.edu	37	chr8	105263839	105263839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccaacagatcatcgtcTggggagattatggccgcatg	9	11	12	9	2	2	2	1	0	1	2	3	3	2	2	2	3	2	1	2	3	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:105263839T>C	ENST00000436393.2	+	28	4136	c.3895T>C	c.(3895-3897)Tgg>Cgg	p.W1299R	RIMS2_ENST00000507740.1_Missense_Mutation_p.W1095R|RIMS2_ENST00000406091.3_Missense_Mutation_p.W1281R|RIMS2_ENST00000262231.10_Missense_Mutation_p.W1120R|RIMS2_ENST00000339750.2_Missense_Mutation_p.W217R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1343	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATCATCGTCTGGGGAGATTA	0.363										HNSCC(12;0.0054)																																							0													120	117	118					8																	105263839		1878	4138	6016	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3895T>C	8.37:g.105263839T>C	ENSP00000390665:p.Trp1299Arg		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.W1281R	ENST00000436393.2	37	c.3841		8	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081447	0.55753	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.64	5.64	0.86602	.	.	.	.	.	D	0.90758	0.7099	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.92948	0.6378	9	0.87932	D	0	.	15.8494	0.78916	0.0:0.0:0.0:1.0	.	1299;1120;1095;1281	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	R	1318;1281;1343;1120;1095;1299;217;217	ENSP00000384892:W1281R;ENSP00000262231:W1120R;ENSP00000423559:W1095R;ENSP00000390665:W1299R;ENSP00000428478:W217R;ENSP00000342051:W217R	ENSP00000262231:W1120R	W	+	1	0	RIMS2	105333015	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.031000	0.88826	2.148000	0.66965	0.533000	0.62120	TGG	RIMS2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000176406		0.363	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	54	0	T	NM_001100117		105263839	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	C	C	105263839	T	C	105263839	3	2	12	1	0	0	0	0	1	0	0	0	13413	1580	55	4	4131	4	RIMS2	8	105263839	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	25611596	105263839	41100183	220	3323											
OXR1	55074	genome.wustl.edu	37	chr8	107763096	107763096	+	Frame_Shift_Del	DEL	C	C	-																															aagaagccattcttgtaaaaCgtttgggaatcgtacacttt																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:107763096delC	ENST00000442977.2	+	16	2651	c.2552delC	c.(2551-2553)acgfs	p.T851fs	OXR1_ENST00000312046.6_Frame_Shift_Del_p.T816fs|OXR1_ENST00000531443.1_Frame_Shift_Del_p.T823fs|OXR1_ENST00000297447.6_Frame_Shift_Del_p.T220fs|OXR1_ENST00000445937.1_Frame_Shift_Del_p.T823fs|OXR1_ENST00000517566.2_Frame_Shift_Del_p.T850fs|OXR1_ENST00000449762.2_Frame_Shift_Del_p.T193fs|OXR1_ENST00000521592.1_Frame_Shift_Del_p.T96fs|OXR1_ENST00000452423.2_Frame_Shift_Del_p.T271fs	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	851					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCTTGTAAAACGTTTGGGAAT	0.353																																																	0													83	85	84					8																	107763096		2203	4300	6503	SO:0001589	frameshift_variant	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2552delC	8.37:g.107763096delC	ENSP00000405424:p.Thr851fs		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Frame_Shift_Del	DEL	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.T851fs	ENST00000442977.2	37	c.2552	CCDS56548.1	8																																																																																			OXR1	-	pfam_TLDc,smart_TLDc	ENSG00000164830		0.353	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding			0	102	0	C	NM_181354		107763096	1	tier1		no_errors	ENST00000442977	ensembl	human	known	74_37	frame_shift_del	30.67	52	23	DEL	1.000	-	-	107763096	C	-	107763096	7	5	12	1	0	1	0	1	0	0	0	0	11373	536	19	0	2729	0	OXR1	8	107763096	Frame_Shift_Del	DEL	C	TCGA-2H-A9GR-01A-12D-A37C-09	2499257	107763096	38600926	221	3324											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110394765	110394765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacggaaaataacacctgcAaaggtcacatcaacagctgg	16	7	8	10	1	2	0	2	0	0	0	2	1	2	1	1	3	5	2	1	3	6	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:110394765A>G	ENST00000378402.5	+	4	486	c.382A>G	c.(382-384)Aaa>Gaa	p.K128E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	128	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAACACCTGCAAAGGTCACAT	0.403										HNSCC(38;0.096)																																							0													124	123	123					8																	110394765		1948	4154	6102	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.382A>G	8.37:g.110394765A>G	ENSP00000367655:p.Lys128Glu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.K128E	ENST00000378402.5	37	c.382	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671757	0.47781	.	.	ENSG00000205038	ENST00000378402	D	0.85773	-2.03	5.94	3.49	0.39957	Cell surface receptor IPT/TIG (1);	0.731322	0.13718	N	0.367577	T	0.77745	0.4176	L	0.44542	1.39	0.20821	N	0.999847	B	0.23891	0.093	B	0.27380	0.079	T	0.60831	-0.7185	10	0.18710	T	0.47	.	6.9275	0.24424	0.561:0.2966:0.0:0.1424	.	128	Q86WI1	PKHL1_HUMAN	E	128	ENSP00000367655:K128E	ENSP00000367655:K128E	K	+	1	0	PKHD1L1	110463941	0.988000	0.35896	0.925000	0.36789	0.991000	0.79684	0.668000	0.25127	0.455000	0.26910	0.528000	0.53228	AAA	PKHD1L1	-	smart_IPT	ENSG00000205038		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	36	0	A	NM_177531		110394765	1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.978	G	G	110394765	A	G	110394765	3	3	12	1	0	0	0	0	1	0	0	0	12011	131	5	4	396	4	PKHD1L1	8	110394765	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2631669	110394765	35969257	222	3325											
EBAG9	9166	genome.wustl.edu	37	chr8	110567089	110567089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactattttaaggacatGacaccaactattaggaaaac	16	10	6	9	0	0	2	0	2	0	0	0	4	0	4	2	2	2	0	2	2	7	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:110567089G>T	ENST00000337573.5	+	4	594	c.294G>T	c.(292-294)atG>atT	p.M98I	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000531677.1_Missense_Mutation_p.M98I|EBAG9_ENST00000395785.2_Missense_Mutation_p.M98I	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	98					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.M98I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTAAGGACATGACACCAACTA	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											123	113	117					8																	110567089		2203	4300	6503	SO:0001583	missense	0			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.294G>T	8.37:g.110567089G>T	ENSP00000337675:p.Met98Ile		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	pirsf_Cancer-assoc_antigen_RCAS1	p.M98I	ENST00000337573.5	37	c.294	CCDS6313.1	8	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907214	0.92107	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.82412	0.5031	M	0.79475	2.455	0.80722	D	1	D	0.53745	0.962	D	0.66716	0.946	D	0.83818	0.0245	9	0.87932	D	0	7.8429	18.8249	0.92114	0.0:0.0:1.0:0.0	.	98	O00559	RCAS1_HUMAN	I	98;1;98;98;98	.	ENSP00000337675:M98I	M	+	3	0	EBAG9	110636265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.770000	0.95276	0.655000	0.94253	ATG	EBAG9	-	pirsf_Cancer-assoc_antigen_RCAS1	ENSG00000147654		0.348	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	HGNC	protein_coding	OTTHUMT00000383536.1		0	35	0	G	NM_004215		110567089	1			no_errors	ENST00000337573	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	110567089	G	T	110567089	3	4	12	1	0	0	0	0	1	0	0	0	4893	1290	45	3	304	3	EBAG9	8	110567089	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	172324	110567089	35796933	223	3326											
ATAD2	29028	genome.wustl.edu	37	chr8	124357205	124357205	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaatattctgtaataaTgtggtaaatgtggctttaag	14	14	11	2	0	1	0	0	0	1	0	1	2	1	1	0	3	0	3	0	3	8	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:124357205T>C	ENST00000287394.5	-	19	2744	c.2637A>G	c.(2635-2637)acA>acG	p.T879T	ATAD2_ENST00000521903.1_Silent_p.T197T|RNU6-875P_ENST00000516488.1_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	879					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTGTAATAATGTGGTAAATG	0.423																																																	0													195	177	183					8																	124357205		2203	4300	6503	SO:0001819	synonymous_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2637A>G	8.37:g.124357205T>C			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.T879	ENST00000287394.5	37	c.2637	CCDS6343.1	8																																																																																			ATAD2	-	superfamily_P-loop_NTPase	ENSG00000156802		0.423	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	-	0	43	0	T	NM_014109		124357205	-1	tier1	-	no_errors	ENST00000287394	ensembl	human	known	74_37	silent	11.39	70	9	SNP	0.996	C	C	124357205	T	C	124357205	2	2	12	1	0	0	0	0	0	0	0	1	1072	1451	51	4		4	ATAD2	8	124357205	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	13790116	124357205	22006817	224	3327											
MTSS1	9788	genome.wustl.edu	37	chr8	125568580	125568580	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgttggggtccggttctcGcttctctttgcggcgctgca	1	13	13	14	5	2	0	0	0	2	0	5	0	3	0	2	4	2	5	2	4	0	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:125568580G>A	ENST00000518547.1	-	12	1770	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*	MTSS1_ENST00000524090.1_Nonsense_Mutation_p.R323*|MTSS1_ENST00000325064.5_Nonsense_Mutation_p.R437*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.R151*|MTSS1_ENST00000378017.3_Nonsense_Mutation_p.R408*|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.R151*|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Nonsense_Mutation_p.R207*	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	433					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCGGTTCTCGCTTCTCTTTG	0.642																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												0													79	70	73					8																	125568580		2203	4300	6503	SO:0001587	stop_gained	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1297C>T	8.37:g.125568580G>A	ENSP00000429064:p.Arg433*		J3KNK6|Q8TCA2|Q96RX2	Nonsense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.R433*	ENST00000518547.1	37	c.1297	CCDS6353.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.046938|5.046938	0.93740|0.93740	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000519168;ENST00000523179|ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	.|.	.|.	.|.	4.78|4.78	3.9|3.9	0.45041|0.45041	.|.	.|0.067295	.|0.64402	.|D	.|0.000019	T|.	0.46889|.	0.1416|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52230|.	-0.8603|.	3|.	.|0.15499	.|T	.|0.54	-5.812|-5.812	12.7339|12.7339	0.57212|0.57212	0.0799:0.0:0.9201:0.0|0.0799:0.0:0.9201:0.0	.|.	.|.	.|.	.|.	V|X	220;215|408;433;151;207;437;151;323	.|.	.|ENSP00000322804:R437X	A|R	-|-	2|1	0|2	MTSS1|MTSS1	125637761|125637761	0.997000|0.997000	0.39634|0.39634	0.961000|0.961000	0.40146|0.40146	0.864000|0.864000	0.49448|0.49448	1.634000|1.634000	0.37123|0.37123	1.009000|1.009000	0.39289|0.39289	0.555000|0.555000	0.69702|0.69702	GCG|CGA	MTSS1	-	NULL	ENSG00000170873		0.642	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	-	0	66	0	G	NM_014751		125568580	-1	tier1	-	no_errors	ENST00000518547	ensembl	human	known	74_37	nonsense	7.22	90	7	SNP	0.988	A	A	125568580	G	A	125568580	4	1	12	1	0	0	0	0	0	1	0	0	10000	1095	38	1	982	1	MTSS1	8	125568580	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1211375	125568580	20795442	225	3328											
LRRC6	23639	genome.wustl.edu	37	chr8	133584647	133584647	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcgtcttctgggtgtgtgTtttttctcttgaactatgtt	3	21	11	6	1	3	1	0	1	3	0	5	1	3	1	0	2	1	2	0	2	2	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:133584647T>G	ENST00000519595.1	-	12	1406	c.1308A>C	c.(1306-1308)aaA>aaC	p.K436N	LRRC6_ENST00000518642.1_3'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.K436N			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	436					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGGGTGTGTGTTTTTTCTCTT	0.418																																																	0													294	267	276					8																	133584647		2203	4300	6503	SO:0001583	missense	0			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1308A>C	8.37:g.133584647T>G	ENSP00000429791:p.Lys436Asn		Q13648|Q4G183	Missense_Mutation	SNP	superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom	p.K436N	ENST00000519595.1	37	c.1308		8	.	.	.	.	.	.	.	.	.	.	T	13.41	2.228086	0.39399	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000250173	T;T;T	0.52295	0.67;0.8;0.67	5.65	-2.62	0.06152	.	1.073040	0.06961	N	0.816360	T	0.36963	0.0986	L	0.50333	1.59	0.09310	N	1	B	0.32302	0.363	B	0.30646	0.118	T	0.30851	-0.9964	10	0.46703	T	0.11	-2.7049	5.2083	0.15302	0.0:0.2926:0.2714:0.436	.	436	Q86X45	LRRC6_HUMAN	N	436;176;436	ENSP00000429791:K436N;ENSP00000428015:K176N;ENSP00000250173:K436N	ENSP00000250173:K436N	K	-	3	2	LRRC6	133653829	0.000000	0.05858	0.000000	0.03702	0.940000	0.58332	-0.215000	0.09279	-0.619000	0.05648	0.533000	0.62120	AAA	LRRC6	-	NULL	ENSG00000129295		0.418	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	LRRC6	HGNC	protein_coding	OTTHUMT00000379578.1	-	0	91	0	T	NM_012472		133584647	-1	tier1	-	no_errors	ENST00000250173	ensembl	human	known	74_37	missense	25.61	61	21	SNP	0.000	G	G	133584647	T	G	133584647	3	3	12	1	0	0	0	0	1	0	0	0	9051	1722	60	4	96	4	LRRC6	8	133584647	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	8016067	133584647	12779375	226	3329											
TG	7038	genome.wustl.edu	37	chr8	134042140	134042140	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtgcagacccacatcCgaggatttggcggggaccct	7	7	14	13	2	0	1	0	0	0	1	1	4	1	3	4	5	1	1	4	5	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:134042140C>T	ENST00000220616.4	+	41	7151	c.7111C>T	c.(7111-7113)Cga>Tga	p.R2371*	TG_ENST00000377869.1_Nonsense_Mutation_p.R2314*|TG_ENST00000519543.1_Nonsense_Mutation_p.R504*|TG_ENST00000542445.1_Nonsense_Mutation_p.R741*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2371					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R2371*(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACCCACATCCGAGGATTTGG	0.642																																																	1	Substitution - Nonsense(1)	ovary(1)											47	48	48					8																	134042140		2203	4300	6503	SO:0001587	stop_gained	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7111C>T	8.37:g.134042140C>T	ENSP00000220616:p.Arg2371*		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R2371*	ENST00000220616.4	37	c.7111	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.335392|10.335392	0.99385|0.99385	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178;ENST00000518108|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|.	.|.	.|.	5.47|5.47	-1.68|-1.68	0.08212|0.08212	.|.	.|1.253950	.|0.05376	.|N	.|0.536251	T|.	0.12433|.	0.0302|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18808|.	-1.0325|.	3|.	.|0.12103	.|T	.|0.63	.|.	2.5159|2.5159	0.04667|0.04667	0.218:0.2297:0.4416:0.1108|0.218:0.2297:0.4416:0.1108	.|.	.|.	.|.	.|.	L|X	826;166|2314;1177;2371;741;504	.|.	.|ENSP00000220616:R2371X	P|R	+|+	2|1	0|2	TG|TG	134111322|134111322	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	0.461000|0.461000	0.21940|0.21940	-0.292000|-0.292000	0.08999|0.08999	-1.086000|-1.086000	0.02197|0.02197	CCG|CGA	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	68	0	C	NM_003235		134042140	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	nonsense	14.14	85	14	SNP	0.000	T	T	134042140	C	T	134042140	4	4	12	1	0	0	0	0	0	1	0	0	15860	644	23	1	7273	1	TG	8	134042140	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	457493	134042140	12321882	227	3330											
GML	2765	genome.wustl.edu	37	chr8	143927913	143927913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccccaggaaaaatcttcaAaactaatagcttctactggg	15	9	7	10	0	3	0	1	0	2	0	3	1	3	1	2	2	4	1	2	2	7	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:143927913A>C	ENST00000220940.1	+	4	374	c.284A>C	c.(283-285)aAa>aCa	p.K95T		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	95	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AAAATCTTCAAAACTAATAGC	0.388																																																	0													61	65	64					8																	143927913		2203	4300	6503	SO:0001583	missense	0			D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"GPI anchored molecule like protein", "glycosylphosphatidylinositol anchored molecule like protein"			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.284A>C	8.37:g.143927913A>C	ENSP00000220940:p.Lys95Thr		A0AVF6|O00686|O00731	Missense_Mutation	SNP	smart_LY6_UPA_recep-like	p.K95T	ENST00000220940.1	37	c.284	CCDS6391.1	8	.	.	.	.	.	.	.	.	.	.	N	6.127	0.391625	0.11581	.	.	ENSG00000104499	ENST00000220940	T	0.51071	0.72	3.11	-6.22	0.02058	Ly-6 antigen / uPA receptor -like (1);	2.260040	0.02147	N	0.057693	T	0.35278	0.0926	L	0.40543	1.245	0.09310	N	1	B	0.18013	0.025	B	0.16289	0.015	T	0.18272	-1.0342	10	0.23302	T	0.38	-45.2417	7.5104	0.27571	0.4008:0.4426:0.1566:0.0	.	95	Q99445	GML_HUMAN	T	95	ENSP00000220940:K95T	ENSP00000220940:K95T	K	+	2	0	GML	143924915	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.662000	0.05305	-3.001000	0.00276	0.455000	0.32223	AAA	GML	-	smart_LY6_UPA_recep-like	ENSG00000104499		0.388	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GML	HGNC	protein_coding	OTTHUMT00000379659.1	-	0	75	0	A	NM_002066		143927913	1	tier1	-	no_errors	ENST00000220940	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.000	C	C	143927913	A	C	143927913	3	2	12	1	0	0	0	0	1	0	0	0	6518	14	1	4	294	4	GML	8	143927913	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	9885773	143927913	2436109	228	3331											
PLEC	5339	genome.wustl.edu	37	chr8	144994186	144994186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgacgcaacagctccTgccgctgctccgcagtgaag	9	6	12	14	3	0	2	0	2	0	0	2	3	2	3	3	1	5	5	3	1	3	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:144994186T>C	ENST00000322810.4	-	32	10383	c.10214A>G	c.(10213-10215)cAg>cGg	p.Q3405R	PLEC_ENST00000356346.3_Missense_Mutation_p.Q3254R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3236R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3268R|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3246R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3291R|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3268R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3295R|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3272R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3405	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAACAGCTCCTGCCGCTGCTC	0.607																																																	0													58	67	64					8																	144994186		2179	4271	6450	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10214A>G	8.37:g.144994186T>C	ENSP00000323856:p.Gln3405Arg		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q3405R	ENST00000322810.4	37	c.10214	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	T	7.722	0.697329	0.15106	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76060	-0.95;-0.95;-0.99;-0.99;-0.97;-0.95;-0.95;-0.95;-0.95	4.91	2.48	0.30137	.	0.496209	0.17112	U	0.186592	T	0.39517	0.1081	N	0.02842	-0.48	0.26834	N	0.968514	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.27739	-1.0065	10	0.07030	T	0.85	.	2.0361	0.03540	0.2278:0.2543:0.0:0.5178	.	3295;3254;3246;3405;3236;3268;3272;3268	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	3268;3272;3268;3236;3405;3246;3254;3295;3291	ENSP00000344848:Q3268R;ENSP00000350277:Q3272R;ENSP00000346602:Q3268R;ENSP00000381756:Q3236R;ENSP00000323856:Q3405R;ENSP00000347044:Q3246R;ENSP00000348702:Q3254R;ENSP00000388180:Q3295R;ENSP00000434583:Q3291R	ENSP00000323856:Q3405R	Q	-	2	0	PLEC	145066174	0.000000	0.05858	0.990000	0.47175	0.596000	0.36781	0.081000	0.14823	0.784000	0.33661	0.368000	0.22195	CAG	PLEC	-	NULL	ENSG00000178209		0.607	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	48	0	T	NM_000445		144994186	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.991	C	C	144994186	T	C	144994186	3	2	12	1	0	0	0	0	1	0	0	0	12091	1580	55	4	3844	4	PLEC	8	144994186	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1066273	144994186	1369836	229	3332											
LRRC14	9684	genome.wustl.edu	37	chr8	145745836	145745836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcctatgcgttcctgCgggaggcactccgaagcagc	6	7	14	14	3	0	0	0	0	0	0	3	2	3	1	4	3	4	3	4	3	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr8:145745836C>T	ENST00000292524.1	+	3	690	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R182W|RECQL4_ENST00000428558.2_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	182										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCGTTCCTGCGGGAGGCACT	0.721																																																	0													44	50	48					8																	145745836		2203	4297	6500	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.544C>T	8.37:g.145745836C>T	ENSP00000292524:p.Arg182Trp		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.R182W	ENST00000292524.1	37	c.544	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844777	0.32606	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.18502	2.21;5.02;5.02	4.51	2.43	0.29744	.	0.751600	0.12378	N	0.474186	T	0.25382	0.0617	L	0.32530	0.975	0.35370	D	0.78899	D	0.89917	1.0	D	0.66084	0.941	T	0.23904	-1.0175	10	0.38643	T	0.18	.	8.4519	0.32875	0.1803:0.6633:0.1564:0.0	.	182	Q15048	LRC14_HUMAN	W	182	ENSP00000436452:R182W;ENSP00000434768:R182W;ENSP00000292524:R182W	ENSP00000292524:R182W	R	+	1	2	LRRC14	145716644	0.299000	0.24426	0.937000	0.37676	0.030000	0.12068	0.568000	0.23623	1.057000	0.40506	0.462000	0.41574	CGG	LRRC14	-	NULL	ENSG00000160959		0.721	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1	-	0	136	0	C	NM_014665		145745836	1	tier1	-	no_errors	ENST00000292524	ensembl	human	known	74_37	missense	27.38	61	23	SNP	0.807	T	T	145745836	C	T	145745836	3	4	12	1	0	0	0	0	1	0	0	0	9003	759	27	1	550	1	LRRC14	8	145745836	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	751650	145745836	618186	230	3333											
KANK1	23189	genome.wustl.edu	37	chr9	730245	730245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagatcgccgctggcctcTatggtaacttttctcactca	8	12	7	14	2	3	1	2	0	2	1	5	1	3	1	3	2	1	2	3	2	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:730245T>C	ENST00000382303.1	+	8	3545	c.2893T>C	c.(2893-2895)Tat>Cat	p.Y965H	KANK1_ENST00000382297.2_Missense_Mutation_p.Y965H|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.Y807H	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	965					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CGCTGGCCTCTATGGTAACTT	0.498																																																	0													52	48	50					9																	730245		2203	4300	6503	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2893T>C	9.37:g.730245T>C	ENSP00000371740:p.Tyr965His		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Y965H	ENST00000382303.1	37	c.2893	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907762	0.33721	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.16597	2.33;2.33;2.33	5.91	4.78	0.61160	.	0.129385	0.35772	N	0.002999	T	0.30479	0.0766	L	0.54323	1.7	0.80722	D	1	D;B	0.71674	0.998;0.007	P;B	0.60345	0.873;0.01	T	0.01409	-1.1362	10	0.42905	T	0.14	-4.6498	10.705	0.45950	0.0:0.0721:0.0:0.9279	.	965;965	Q5W0W1;Q14678	.;KANK1_HUMAN	H	965;965;965;807	ENSP00000371740:Y965H;ENSP00000371734:Y965H;ENSP00000371730:Y807H	ENSP00000346479:Y965H	Y	+	1	0	KANK1	720245	0.999000	0.42202	0.955000	0.39395	0.811000	0.45836	2.367000	0.44213	1.064000	0.40671	0.533000	0.62120	TAT	KANK1	-	smart_Ankyrin_rpt	ENSG00000107104		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0	67	0	T	NM_015158		730245	1			no_errors	ENST00000382297	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.986	C	C	730245	T	C	730245	3	2	12	1	0	0	0	0	1	0	0	0	8003	1522	53	4	2903	4	KANK1	9	730245	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09		730245	140483186	231	3334											
INSL6	11172	genome.wustl.edu	37	chr9	5185504	5185504	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcaccaagtacctgccGcacagcttcctggcactgct	7	11	7	16	1	2	0	1	0	1	0	3	0	3	0	4	1	4	5	4	1	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:5185504G>T	ENST00000381641.3	-	1	164	c.99C>A	c.(97-99)tgC>tgA	p.C33*		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	33					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.C33C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AGTACCTGCCGCACAGCTTCC	0.562																																																	1	Substitution - coding silent(1)	endometrium(1)											58	53	54					9																	5185504		2203	4300	6503	SO:0001587	stop_gained	0			AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"relaxin/insulin-like factor 1"	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.99C>A	9.37:g.5185504G>T	ENSP00000371054:p.Cys33*		A0AVS0|Q9NS16	Nonsense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6	p.C33*	ENST00000381641.3	37	c.99	CCDS6458.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.077521	0.94000	.	.	ENSG00000120210	ENST00000381641	.	.	.	4.35	2.53	0.30540	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4892	6.7614	0.23542	0.2084:0.0:0.7916:0.0	.	.	.	.	X	33	.	ENSP00000371054:C33X	C	-	3	2	INSL6	5175504	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	0.859000	0.27858	0.802000	0.34089	0.650000	0.86243	TGC	INSL6	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6	ENSG00000120210		0.562	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL6	HGNC	protein_coding	OTTHUMT00000051608.3		0	84	0	G	NM_007179		5185504	-1			no_errors	ENST00000381641	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T	T	5185504	G	T	5185504	4	4	12	1	0	0	0	0	0	1	0	0	7797	1079	38	2	550	2	INSL6	9	5185504	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4455259	5185504	136027927	232	3335											
BNC2	54796	genome.wustl.edu	37	chr9	16435643	16435643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaacgttcctgtagtgaAgtttcacactgtaggagctt	10	13	11	7	1	1	2	1	2	0	0	2	3	2	3	1	1	2	5	1	1	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:16435643A>C	ENST00000380672.4	-	6	2606	c.2549T>G	c.(2548-2550)cTt>cGt	p.L850R	BNC2_ENST00000545497.1_Missense_Mutation_p.L755R|BNC2_ENST00000380667.2_Missense_Mutation_p.L783R|BNC2_ENST00000380666.2_Missense_Mutation_p.L850R	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CCTGTAGTGAAGTTTCACACT	0.483																																																	0													70	67	68					9																	16435643		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2549T>G	9.37:g.16435643A>C	ENSP00000370047:p.Leu850Arg			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L850R	ENST00000380672.4	37	c.2549	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781316	0.70222	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.59906	1.67;0.23;0.23;1.67;1.67;1.67	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	N	0.16266	0.395	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.997;0.998;0.998;0.999;0.999;0.999	T	0.64491	-0.6395	10	0.38643	T	0.18	-12.3418	16.3766	0.83401	1.0:0.0:0.0:0.0	.	755;783;850;850;807;850;755;615	F5H586;B1APH0;Q6ZN30-2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;BNC2_HUMAN;.;.	R	850;243;807;783;755;850;850	ENSP00000370047:L850R;ENSP00000392212:L243R;ENSP00000408370:L807R;ENSP00000370042:L783R;ENSP00000444640:L755R;ENSP00000370041:L850R	ENSP00000370041:L850R	L	-	2	0	BNC2	16425643	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	CTT	BNC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173068		0.483	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0	63	0	A	NM_017637		16435643	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	C	C	16435643	A	C	16435643	3	2	12	1	0	0	0	0	1	0	0	0	1477	72	3	4	758	4	BNC2	9	16435643	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	11250139	16435643	124777788	233	3336											
FAM75A1	647060	genome.wustl.edu	37	chr9	39360840	39360840	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcagagacccagcctcaAgtttgtgccgctgttgtgct	8	11	11	11	1	2	1	2	0	0	1	2	2	2	1	3	0	3	4	3	0	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:39360840A>C	ENST00000377647.3	+	4	3107	c.3078A>C	c.(3076-3078)caA>caC	p.Q1026H		NM_001085452.1	NP_001078921.1	Q5TZJ5	S31A1_HUMAN	SPATA31 subfamily A, member 1	1026					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCAGCCTCAAGTTTGTGCCG	0.512																																																	0													1	1	1					9																	39360840		216	330	546	SO:0001583	missense	0				CCDS43808.1	9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000204849	ENSG00000204849			23394	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 36", "family with sequence similarity 75, member A1"	C9orf36, FAM75A1		20850414	Standard	XM_006716851		Approved	DKFZP434B204, C9orf36A, OTTHUMG00000013156		Q5TZJ5	OTTHUMG00000013156	ENST00000377647.3:c.3078A>C	9.37:g.39360840A>C	ENSP00000366875:p.Gln1026His			Missense_Mutation	SNP	NULL	p.Q1026H	ENST00000377647.3	37	c.3078	CCDS43808.1	9	.	.	.	.	.	.	.	.	.	.	A	7.963	0.747382	0.15710	.	.	ENSG00000204849	ENST00000377647	T	0.10382	2.88	1.46	0.269	0.15631	.	.	.	.	.	T	0.23926	0.0579	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.10291	-1.0636	9	0.72032	D	0.01	.	3.2736	0.06891	0.7518:0.0:0.2482:0.0	.	1026	Q5TZJ5	F75A1_HUMAN	H	1026	ENSP00000366875:Q1026H	ENSP00000366875:Q1026H	Q	+	3	2	FAM75A1	39350840	0.001000	0.12720	0.001000	0.08648	0.101000	0.19017	-0.141000	0.10327	0.079000	0.16929	0.113000	0.15668	CAA	SPATA31A1	-	NULL	ENSG00000204849		0.512	SPATA31A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A1	HGNC	protein_coding	OTTHUMT00000036910.1	-	0	39	0	A	NM_001085452		39360840	1	tier1	-	no_errors	ENST00000377647	ensembl	human	known	74_37	missense	20.93	34	9	SNP	0.001	C	C	39360840	A	C	39360840	3	2	12	1	0	0	0	0	1	0	0	0	5641	69	3	4	3092	4	FAM75A1	9	39360840	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	22925197	39360840	101852591	234	3337											
TRPM3	80036	genome.wustl.edu	37	chr9	73458045	73458046	+	Splice_Site	INS	-	-	AA																															caacatgacgaataacacctINSaaaaaaaaaagagaagcatt																								rs3833697|rs533390097	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:73458045_73458046insAA	ENST00000377111.2	-	5	920		c.e5-2		TRPM3_ENST00000377110.3_Splice_Site|TRPM3_ENST00000377106.1_Splice_Site|TRPM3_ENST00000377101.1_Splice_Site|TRPM3_ENST00000377105.1_Splice_Site|TRPM3_ENST00000396280.5_Splice_Site|TRPM3_ENST00000408909.2_Splice_Site|TRPM3_ENST00000396292.4_Splice_Site|TRPM3_ENST00000358082.3_Splice_Site|TRPM3_ENST00000361823.5_Splice_Site|TRPM3_ENST00000357533.2_Splice_Site|TRPM3_ENST00000396285.1_Splice_Site|TRPM3_ENST00000423814.3_Splice_Site|TRPM3_ENST00000360823.2_Splice_Site|TRPM3_ENST00000396283.1_Splice_Site|TRPM3_ENST00000377097.3_Splice_Site	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAATAACACCTAAAAAAAAAAG	0.371																																																	0									,,,,,,,,	2873,228,1163		935,177,826,1,49,144					,,,,,,,,	4.6	0.9		dbSNP_130	42	5493,56,2699		1753,52,1935,0,4,380	no	intron,intron,intron,intron,intron,intron,intron,intron,intron	TRPM3	NM_206948.2,NM_206947.3,NM_206946.3,NM_206945.3,NM_206944.3,NM_024971.5,NM_020952.4,NM_001007471.2,NM_001007470.1	,,,,,,,,	2688,229,2761,1,53,524	A1A1,A1A2,A1R,A2A2,A2R,RR		33.402,32.622,33.1362	,,,,,,,,	,,,,,,,,		8366,284,3862				SO:0001630	splice_region_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.677-2->TT	9.37:g.73458054_73458055dupAA			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Splice_Site	INS	-	e5-2	ENST00000377111.2	37	c.683-3_683-2		9																																																																																			TRPM3	-	-	ENSG00000083067		0.371	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5		0	59	0	-	NM_206945	Intron	73458046	-1	tier1		no_errors	ENST00000423814	ensembl	human	known	74_37	splice_site_ins	9.64	75	8	INS	0.995:0.010	AA	AA	73458046	-	AA	73458045	8	5	12	1	0	1	1	0	0	0	1	0	16635	1536	53	0	4655	0	TRPM3	9	73458045	Splice_Site	INS	-	TCGA-2H-A9GR-01A-12D-A37C-09	34097205	73458045	67755386	235	3338											
C9orf85	138241	genome.wustl.edu	37	chr9	74586497	74586497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgtgaacttgaagttTgcgcaaaatgtggaaagaaa	14	10	12	5	1	0	3	0	2	0	1	0	4	0	4	1	1	3	2	1	1	6	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:74586497T>C	ENST00000377031.3	+	3	476	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R	C9orf85_ENST00000486911.2_Intron|C9orf85_ENST00000334731.2_Missense_Mutation_p.C96R			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	96										kidney(2)|large_intestine(1)|lung(4)	7						ACTTGAAGTTTGCGCAAAATG	0.303																																																	0													147	135	139					9																	74586497		2203	4300	6503	SO:0001583	missense	0			BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.286T>C	9.37:g.74586497T>C	ENSP00000366230:p.Cys96Arg		Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Missense_Mutation	SNP	pfam_DUF2039	p.C96R	ENST00000377031.3	37	c.286		9	.	.	.	.	.	.	.	.	.	.	T	19.53	3.845893	0.71603	.	.	ENSG00000155621	ENST00000334731;ENST00000377031	T	0.15952	2.38	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.60255	-0.7299	10	0.87932	D	0	-11.8948	14.072	0.64865	0.0:0.0:0.0:1.0	.	96	Q96MD7-1	.	R	96	ENSP00000366230:C96R	ENSP00000334289:C96R	C	+	1	0	C9orf85	73776317	1.000000	0.71417	0.999000	0.59377	0.751000	0.42716	7.064000	0.76721	1.970000	0.57323	0.482000	0.46254	TGC	C9orf85	-	pfam_DUF2039	ENSG00000155621		0.303	C9orf85-003	KNOWN	basic	protein_coding	C9orf85	HGNC	protein_coding	OTTHUMT00000052628.2	-	0	92	0	T	NM_182505		74586497	1	tier1	-	no_errors	ENST00000377031	ensembl	human	known	74_37	missense	17.50	99	21	SNP	1.000	C	C	74586497	T	C	74586497	3	2	12	1	0	0	0	0	1	0	0	0	2508	1812	63	4	296	4	C9orf85	9	74586497	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1128452	74586497	66626934	236	3339											
CYLC2	1539	genome.wustl.edu	37	chr9	105767725	105767725	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggagattaaaaaaggtaAgaaagataagaagaagccca	24	4	10	3	0	0	5	0	0	0	5	0	6	0	5	1	2	1	1	1	2	9	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:105767725A>C	ENST00000374798.3	+	5	882	c.812A>C	c.(811-813)aAg>aCg	p.K271T	CYLC2_ENST00000487798.1_Missense_Mutation_p.K271T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	271	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAAAAAGGTAAGAAAGATAAG	0.398																																																	0													107	102	104					9																	105767725		2203	4300	6503	SO:0001583	missense	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.812A>C	9.37:g.105767725A>C	ENSP00000420256:p.Lys271Thr		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.K271T	ENST00000374798.3	37	c.812	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	A	8.444	0.851465	0.17034	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.26660	1.72;1.72	4.6	3.45	0.39498	.	0.587434	0.14028	N	0.346363	T	0.25568	0.0622	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	P	0.58130	0.833	T	0.08186	-1.0734	10	0.15952	T	0.53	0.0796	7.2095	0.25925	0.899:0.0:0.101:0.0	.	271	Q14093	CYLC2_HUMAN	T	271	ENSP00000420256:K271T;ENSP00000417674:K271T	ENSP00000420256:K271T	K	+	2	0	CYLC2	104807546	0.008000	0.16893	0.009000	0.14445	0.108000	0.19459	2.146000	0.42216	0.890000	0.36211	0.477000	0.44152	AAG	CYLC2	-	NULL	ENSG00000155833		0.398	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	-	0	26	0	A	NM_001340		105767725	1	tier1	-	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.017	C	C	105767725	A	C	105767725	3	2	12	1	0	0	0	0	1	0	0	0	4151	72	3	4	830	4	CYLC2	9	105767725	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	31181228	105767725	35445706	237	3340											
OR13D1	286365	genome.wustl.edu	37	chr9	107456835	107456835	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctgccatgactgaattcTttctggtggggctttcccaa	7	14	9	11	0	3	2	0	2	3	0	4	2	4	2	2	3	1	1	2	3	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:107456835T>G	ENST00000318763.5	+	1	176	c.133T>G	c.(133-135)Ttt>Gtt	p.F45V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						GACTGAATTCTTTCTGGTGGG	0.443																																																	0													68	68	68					9																	107456835		2203	4300	6503	SO:0001583	missense	0				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.133T>G	9.37:g.107456835T>G	ENSP00000317357:p.Phe45Val		B9EIS1|Q6IFL1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F45V	ENST00000318763.5	37	c.133	CCDS35094.1	9	.	.	.	.	.	.	.	.	.	.	T	0.346	-0.947776	0.02304	.	.	ENSG00000179055	ENST00000318763	T	0.00545	6.67	3.75	2.6	0.31112	.	0.249479	0.28641	N	0.014640	T	0.00271	0.0008	N	0.03253	-0.375	0.22468	N	0.999077	B	0.13145	0.007	B	0.09377	0.004	T	0.42189	-0.9466	10	0.26408	T	0.33	.	5.2412	0.15473	0.0:0.2414:0.0:0.7586	.	45	Q8NGV5	O13D1_HUMAN	V	45	ENSP00000317357:F45V	ENSP00000317357:F45V	F	+	1	0	OR13D1	106496656	0.000000	0.05858	1.000000	0.80357	0.750000	0.42670	-1.391000	0.02525	0.508000	0.28173	0.496000	0.49642	TTT	OR13D1	-	NULL	ENSG00000179055		0.443	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1	-	0	93	0	T			107456835	1	tier1	-	no_errors	ENST00000318763	ensembl	human	known	74_37	missense	16.81	94	19	SNP	0.472	G	G	107456835	T	G	107456835	3	3	12	1	0	0	0	0	1	0	0	0	10979	1609	56	4	135	4	OR13D1	9	107456835	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1689110	107456835	33756596	238	3341											
TNC	3371	genome.wustl.edu	37	chr9	117848461	117848461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagccgtcctcacagaCgcactgtccgtccacacaga	10	6	10	15	3	1	3	1	1	0	2	4	3	4	3	4	1	1	1	4	1	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:117848461C>T	ENST00000350763.4	-	3	1960	c.1549G>A	c.(1549-1551)Gtc>Atc	p.V517I	TNC_ENST00000423613.2_Missense_Mutation_p.V517I|TNC_ENST00000542877.1_Missense_Mutation_p.V517I|TNC_ENST00000535648.1_Missense_Mutation_p.V517I|TNC_ENST00000537320.1_Missense_Mutation_p.V517I|TNC_ENST00000341037.4_Missense_Mutation_p.V517I|TNC_ENST00000346706.3_Missense_Mutation_p.V517I|TNC_ENST00000345230.3_Missense_Mutation_p.V517I|TNC_ENST00000340094.3_Missense_Mutation_p.V517I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	517	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCTCACAGACGCACTGTCCG	0.607																																																	0													89	77	81					9																	117848461		2203	4300	6503	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1549G>A	9.37:g.117848461C>T	ENSP00000265131:p.Val517Ile		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V517I	ENST00000350763.4	37	c.1549	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	0.763	-0.768594	0.02974	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92;2.92	5.82	-0.598	0.11649	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);	0.751962	0.12674	N	0.448551	T	0.04634	0.0126	N	0.12611	0.24	0.09310	N	1	P;B	0.35551	0.509;0.007	B;B	0.29716	0.106;0.009	T	0.40701	-0.9549	10	0.31617	T	0.26	.	6.9964	0.24784	0.0:0.5702:0.186:0.2438	.	517;517	E9PC84;P24821	.;TENA_HUMAN	I	517	ENSP00000344400:V517I;ENSP00000438152:V517I;ENSP00000344555:V517I;ENSP00000345861:V517I;ENSP00000265131:V517I;ENSP00000339553:V517I;ENSP00000411406:V517I;ENSP00000443478:V517I;ENSP00000442242:V517I	ENSP00000344400:V517I	V	-	1	0	TNC	116888282	0.000000	0.05858	0.023000	0.16930	0.034000	0.12701	0.301000	0.19174	-0.119000	0.11830	-0.368000	0.07277	GTC	TNC	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000041982		0.607	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	29	0	C	NM_002160		117848461	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.002	T	T	117848461	C	T	117848461	3	4	12	1	0	0	0	0	1	0	0	0	16317	536	19	1	5160	1	TNC	9	117848461	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	10391626	117848461	23364970	239	3342											
ASTN2	23245	genome.wustl.edu	37	chr9	119204735	119204735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactgggttacctaccttCtgccttgttgtcatctacca	9	14	6	12	0	3	0	1	0	2	0	3	0	3	0	4	1	5	2	4	1	5	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:119204735C>T	ENST00000313400.4	-	21	3695	c.3595G>A	c.(3595-3597)Gaa>Aaa	p.E1199K	ASTN2_ENST00000361477.3_Missense_Mutation_p.E251K|ASTN2_ENST00000373996.3_Missense_Mutation_p.E1195K|ASTN2_ENST00000288520.5_Missense_Mutation_p.E300K|ASTN2_ENST00000341734.4_Missense_Mutation_p.E251K|ASTN2_ENST00000361209.2_Missense_Mutation_p.E1148K			O75129	ASTN2_HUMAN	astrotactin 2	1199					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TACCTACCTTCTGCCTTGTTG	0.498																																																	0													197	168	178					9																	119204735		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3595G>A	9.37:g.119204735C>T	ENSP00000314038:p.Glu1199Lys		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.E1199K	ENST00000313400.4	37	c.3595		9	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625055	0.87560	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.15487	2.83;2.83;2.42;2.44;2.65;2.85;2.44	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	N	0.19112	0.55	0.80722	D	1	D;D;P;D;P;D;D	0.69078	0.996;0.996;0.942;0.997;0.868;0.996;0.996	D;D;P;D;P;D;D	0.76071	0.981;0.981;0.487;0.98;0.491;0.981;0.987	T	0.10543	-1.0625	10	0.62326	D	0.03	.	19.2689	0.94000	0.0:1.0:0.0:0.0	.	251;251;1148;1199;1195;251;300	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	K	1199;1195;300;251;922;1148;251	ENSP00000314038:E1199K;ENSP00000363108:E1195K;ENSP00000288520:E300K;ENSP00000339925:E251K;ENSP00000363098:E922K;ENSP00000354504:E1148K;ENSP00000355116:E251K	ENSP00000288520:E300K	E	-	1	0	ASTN2	118244556	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.664000	0.83830	2.546000	0.85860	0.655000	0.94253	GAA	ASTN2	-	NULL	ENSG00000148219		0.498	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	52	0	C	NM_014010		119204735	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	119204735	C	T	119204735	3	4	12	1	0	0	0	0	1	0	0	0	1066	922	32	3	477	3	ASTN2	9	119204735	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1356274	119204735	22008696	240	3343											
ASTN2	23245	genome.wustl.edu	37	chr9	120176829	120176829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcctgcaccgcgatgcGccccggcagctcgttacgca	5	7	12	17	7	0	0	0	0	0	0	3	1	1	0	4	1	4	5	4	1	1	1	rs201301375		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:120176829G>A	ENST00000313400.4	-	1	488	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R130C|ASTN2_ENST00000361209.2_Missense_Mutation_p.R130C			O75129	ASTN2_HUMAN	astrotactin 2	130					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACCGCGATGCGCCCCGGCAGC	0.726																																																	0								G	CYS/ARG	0,4406		0,0,2203	34	33	34		388	3.1	1	9		34	1,8597		0,1,4298	yes	missense	ASTN2	NM_014010.4	180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	130/1289	120176829	1,13003	2203	4299	6502	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.388C>T	9.37:g.120176829G>A	ENSP00000314038:p.Arg130Cys		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.R130C	ENST00000313400.4	37	c.388		9	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242695	0.39598	0.0	1.16E-4	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.11169	2.84;2.84;2.8	3.13	3.13	0.36017	.	0.109140	0.34067	N	0.004281	T	0.12774	0.0310	N	0.22421	0.69	0.47621	D	0.999471	D;D;D	0.76494	0.986;0.993;0.999	P;B;P	0.59012	0.648;0.348;0.85	T	0.07986	-1.0744	9	.	.	.	-16.7552	7.6695	0.28451	0.0:0.0:0.7477:0.2523	.	130;130;130	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	130	ENSP00000314038:R130C;ENSP00000363108:R130C;ENSP00000354504:R130C	.	R	-	1	0	ASTN2	119216650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.889000	0.28282	1.723000	0.51488	0.455000	0.32223	CGC	ASTN2	-	NULL	ENSG00000148219		0.726	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	67	0	G	NM_014010		120176829	-1	tier1	rs201301375	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	16.67	55	11	SNP	1.000	A	A	120176829	G	A	120176829	3	1	12	1	0	0	0	0	1	0	0	0	1066	1087	38	1	3798	1	ASTN2	9	120176829	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	972094	120176829	21036602	241	3344											
PTGS1	5742	genome.wustl.edu	37	chr9	125148852	125148852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaaccgcattgccatggaGttcaaccatctctaccactg	10	9	7	15	2	2	0	1	0	1	0	3	1	2	1	4	1	4	3	4	1	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:125148852G>T	ENST00000362012.2	+	9	1142	c.1137G>T	c.(1135-1137)gaG>gaT	p.E379D	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000373698.5_Missense_Mutation_p.E270D|PTGS1_ENST00000540753.1_Missense_Mutation_p.E354D|PTGS1_ENST00000223423.4_Missense_Mutation_p.E379D	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	379					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.E379D(1)		large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTGCCATGGAGTTCAACCATC	0.537																																																	1	Substitution - Missense(1)	lung(1)											221	206	211					9																	125148852		2203	4300	6503	SO:0001583	missense	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1137G>T	9.37:g.125148852G>T	ENSP00000354612:p.Glu379Asp		A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.E379D	ENST00000362012.2	37	c.1137	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601584	0.87055	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.04	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.94142	3.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.63139	-0.6704	10	0.87932	D	0	-27.2112	11.6194	0.51108	0.0873:0.0:0.9127:0.0	.	354;379;379	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	D	354;379;379;270	ENSP00000437709:E354D;ENSP00000354612:E379D;ENSP00000223423:E379D;ENSP00000362802:E270D	ENSP00000223423:E379D	E	+	3	2	PTGS1	124188673	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.137000	0.58010	1.084000	0.41184	0.563000	0.77884	GAG	PTGS1	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000095303		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1		0	70	0	G			125148852	1			no_errors	ENST00000362012	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	125148852	G	T	125148852	3	4	12	1	0	0	0	0	1	0	0	0	12798	1020	36	3	1171	3	PTGS1	9	125148852	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4972023	125148852	16064579	242	3345											
PTGS1	5742	genome.wustl.edu	37	chr9	125154752	125154752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaccaagacctgtccctacGtttccttccgtgtgccggat	7	11	8	15	3	0	1	0	0	0	1	3	2	3	2	6	1	2	1	6	1	2	3	rs533328230		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:125154752G>A	ENST00000362012.2	+	11	1734	c.1729G>A	c.(1729-1731)Gtt>Att	p.V577I	PTGS1_ENST00000373698.5_Missense_Mutation_p.V468I|PTGS1_ENST00000540753.1_Missense_Mutation_p.V515I|PTGS1_ENST00000223423.4_Missense_Mutation_p.V540I	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	577					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTGTCCCTACGTTTCCTTCCG	0.582													G|||	1	0.000199681	0	0	5008	,	,		20183	0		0	False		,,,				2504	0.001																0													103	91	95					9																	125154752		2203	4300	6503	SO:0001583	missense	0			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1729G>A	9.37:g.125154752G>A	ENSP00000354612:p.Val577Ile		A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.V577I	ENST00000362012.2	37	c.1729	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681997	0.68042	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.34048	0.0884	M	0.70903	2.155	0.80722	D	1	D;P;P	0.89917	1.0;0.934;0.925	D;B;B	0.91635	0.999;0.321;0.411	T	0.00875	-1.1531	10	0.39692	T	0.17	-17.8951	18.5257	0.90971	0.0:0.0:1.0:0.0	.	515;577;540	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	I	515;577;540;468	ENSP00000437709:V515I;ENSP00000354612:V577I;ENSP00000223423:V540I;ENSP00000362802:V468I	ENSP00000223423:V540I	V	+	1	0	PTGS1	124194573	1.000000	0.71417	0.895000	0.35142	0.633000	0.38033	6.766000	0.74970	2.620000	0.88729	0.655000	0.94253	GTT	PTGS1	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000095303		0.582	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	HGNC	protein_coding	OTTHUMT00000053933.1	-	0	80	0	G			125154752	1	tier1	-	no_errors	ENST00000362012	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	A	A	125154752	G	A	125154752	3	1	12	1	0	0	0	0	1	0	0	0	12798	1145	40	1	1771	1	PTGS1	9	125154752	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	5900	125154752	16058679	243	3346											
OR1J2	26740	genome.wustl.edu	37	chr9	125273131	125273131	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagttcctccttctgggcctCcccatccggccagagcagca	6	8	10	17	1	1	1	0	0	1	1	5	2	5	1	7	2	2	3	7	2	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:125273131C>T	ENST00000335302.5	+	1	51	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCTGGGCCTCCCCATCCGGC	0.567																																																	0													167	155	159					9																	125273131		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.51C>T	9.37:g.125273131C>T			A3KFL9|Q6IF14|Q96R90|Q9NZP1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L17	ENST00000335302.5	37	c.51	CCDS35121.1	9																																																																																			OR1J2	-	NULL	ENSG00000197233		0.567	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	-	0	103	0	C			125273131	1	tier1	-	no_errors	ENST00000335302	ensembl	human	known	74_37	silent	22.52	86	25	SNP	0.852	T	T	125273131	C	T	125273131	2	4	12	1	0	0	0	0	0	0	0	1	10999	842	30	3		3	OR1J2	9	125273131	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	118379	125273131	15940300	244	3347											
PTGDS	5730	genome.wustl.edu	37	chr9	139874722	139874722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaggataccattgtctTcctgccccaaaccggtgagg	10	8	10	13	1	1	2	0	1	1	1	2	3	2	3	5	3	3	0	5	3	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr9:139874722T>C	ENST00000371625.3	+	5	610	c.536T>C	c.(535-537)tTc>tCc	p.F179S	LCNL1_ENST00000408973.2_5'Flank|PTGDS_ENST00000224167.2_Missense_Mutation_p.F213S	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	179					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCATTGTCTTCCTGCCCCAA	0.592																																																	0													71	68	69					9																	139874722		2203	4300	6503	SO:0001583	missense	0			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.536T>C	9.37:g.139874722T>C	ENSP00000360687:p.Phe179Ser		B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	p.F213S	ENST00000371625.3	37	c.638	CCDS7019.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.02|18.02	3.530556|3.530556	0.64860|0.64860	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000371625|ENST00000444903	T;T|.	0.07908|.	3.15;3.15|.	5.07|5.07	5.07|5.07	0.68467|0.68467	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.082122|.	0.49305|.	D|.	0.000148|.	T|T	0.71787|0.71787	0.3381|0.3381	M|M	0.83012|0.83012	2.62|2.62	0.34466|0.34466	D|D	0.702334|0.702334	P|.	0.44627|.	0.839|.	P|.	0.48400|.	0.576|.	T|T	0.81924|0.81924	-0.0710|-0.0710	10|5	0.72032|.	D|.	0.01|.	0.3952|0.3952	12.202|12.202	0.54331|0.54331	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	179|.	P41222|.	PTGDS_HUMAN|.	S|P	213;179|6	ENSP00000224167:F213S;ENSP00000360687:F179S|.	ENSP00000224167:F213S|.	F|S	+|+	2|1	0|0	PTGDS|PTGDS	138994543|138994543	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.571000|0.571000	0.35966|0.35966	3.438000|3.438000	0.52871|0.52871	1.923000|1.923000	0.55706|0.55706	0.529000|0.529000	0.55759|0.55759	TTC|TCC	PTGDS	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000107317		0.592	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	-	0	124	0	T	NM_000954		139874722	1	tier1	-	no_errors	ENST00000224167	ensembl	human	known	74_37	missense	5.97	126	8	SNP	1.000	C	C	139874722	T	C	139874722	3	2	12	1	0	0	0	0	1	0	0	0	12784	1783	62	4	554	4	PTGDS	9	139874722	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	14601591	139874722	1338709	245	3348											
OLAH	55301	genome.wustl.edu	37	chr10	15098958	15098958	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggccaaaattcttggtcTattctggattctaatttttt	8	19	6	8	0	4	0	0	0	4	0	4	1	4	1	2	3	0	0	2	3	4	9			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:15098958T>C	ENST00000378228.3	+	4	417				OLAH_ENST00000378217.3_Missense_Mutation_p.L100P	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase						fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						attcttggtctattctggatt	0.458																																																	0													267	267	267					10																	15098958		1327	2309	3636	SO:0001627	intron_variant	0			AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"thioesterase domain containing 1"	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.164-4765T>C	10.37:g.15098958T>C			Q5VUB6|Q9NUW1	Missense_Mutation	SNP	pfam_Thioesterase	p.L100P	ENST00000378228.3	37	c.299	CCDS31152.1	10	.	.	.	.	.	.	.	.	.	.	t	5.309	0.242353	0.10077	.	.	ENSG00000152463	ENST00000378217	.	.	.	0.439	0.439	0.16567	.	.	.	.	.	T	0.36026	0.0952	.	.	.	0.09310	N	1	D	0.62365	0.991	P	0.50231	0.635	T	0.18272	-1.0342	5	.	.	.	.	.	.	.	.	100	Q9NV23-2	.	P	100	.	.	L	+	2	0	OLAH	15138964	0.005000	0.15991	0.038000	0.18304	0.121000	0.20230	0.397000	0.20883	0.400000	0.25396	0.155000	0.16302	CTA	OLAH	-	NULL	ENSG00000152463		0.458	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLAH	HGNC	protein_coding	OTTHUMT00000046964.1	-	0	73	0	T	NM_018324		15098958	1	tier1	-	no_errors	ENST00000378217	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.052	C	C	15098958	T	C	15098958	1	2	12	0	1	0	0	0	0	0	0	0	10890	1522	53	4		4	OLAH	10	15098958	Intron	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09		15098958	120435789	246	3349											
NEBL	10529	genome.wustl.edu	37	chr10	21076223	21076223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctttgctgataggctcCgggaagaacaggtgctgcat	9	10	14	8	1	0	2	0	1	0	1	1	3	1	3	1	4	4	5	1	4	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:21076223C>T	ENST00000377122.4	-	27	3172	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R	NEBL_ENST00000417816.2_Missense_Mutation_p.G182R|NEBL_ENST00000377159.4_Missense_Mutation_p.G148R	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	926	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.G926R(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGATAGGCTCCGGGAAGAACA	0.453																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											177	142	154					10																	21076223		2203	4300	6503	SO:0001583	missense	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2776G>A	10.37:g.21076223C>T	ENSP00000366326:p.Gly926Arg		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.G926R	ENST00000377122.4	37	c.2776	CCDS7134.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909584	0.92107	.	.	ENSG00000078114	ENST00000377122;ENST00000417816;ENST00000377159	T;T;T	0.34472	3.51;1.36;1.77	6.03	6.03	0.97812	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.87578	0.998;0.801	T	0.27606	-1.0069	10	0.15499	T	0.54	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	182;926	Q70I54;O76041	.;NEBL_HUMAN	R	926;182;148	ENSP00000366326:G926R;ENSP00000393896:G182R;ENSP00000366364:G148R	ENSP00000366326:G926R	G	-	1	0	NEBL	21116229	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.166000	0.77553	2.854000	0.98071	0.655000	0.94253	GGA	NEBL	-	superfamily_SH3_domain	ENSG00000078114		0.453	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	-	0	48	0	C	NM_006393		21076223	-1	tier1	-	no_errors	ENST00000377122	ensembl	human	known	74_37	missense	13.33	52	8	SNP	1.000	T	T	21076223	C	T	21076223	3	4	12	1	0	0	0	0	1	0	0	0	10342	661	23	1	276	1	NEBL	10	21076223	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	5977265	21076223	114458524	247	3350											
LRRC18	474354	genome.wustl.edu	37	chr10	50121941	50121941	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccaatggactcaggcagcTtgtctatgtagttgctgtgc	7	12	13	9	0	2	0	1	0	1	0	2	1	2	1	1	3	3	5	1	3	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:50121941T>G	ENST00000374160.3	-	1	336	c.260A>C	c.(259-261)aAg>aCg	p.K87T	WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.K87T|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	87						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCAGGCAGCTTGTCTATGTA	0.567																																																	0													101	84	89					10																	50121941		2203	4300	6503	SO:0001583	missense	0			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.260A>C	10.37:g.50121941T>G	ENSP00000363275:p.Lys87Thr		Q6UY02	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.K87T	ENST00000374160.3	37	c.260	CCDS31197.1	10	.	.	.	.	.	.	.	.	.	.	T	9.801	1.180578	0.21787	.	.	ENSG00000165383	ENST00000374160;ENST00000298124	T;T	0.09630	2.96;2.96	6.07	1.11	0.20524	.	0.340228	0.34802	N	0.003677	T	0.03739	0.0106	N	0.02391	-0.57	0.33876	D	0.635582	B	0.31459	0.324	B	0.31390	0.129	T	0.45833	-0.9234	9	.	.	.	.	10.2448	0.43334	0.0:0.3256:0.0:0.6744	.	87	Q8N456	LRC18_HUMAN	T	87	ENSP00000363275:K87T;ENSP00000298124:K87T	.	K	-	2	0	LRRC18	49791947	0.006000	0.16342	0.991000	0.47740	0.507000	0.33981	-0.186000	0.09670	-0.025000	0.13918	-0.274000	0.10170	AAG	LRRC18	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000165383		0.567	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	-	0	75	0	T	NM_001006939		50121941	-1	tier1	-	no_errors	ENST00000374160	ensembl	human	known	74_37	missense	34.72	46	25	SNP	0.990	G	G	50121941	T	G	50121941	3	3	12	1	0	0	0	0	1	0	0	0	9009	1609	56	4	533	4	LRRC18	10	50121941	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	29045718	50121941	85412806	248	3351											
AGAP7	653268	genome.wustl.edu	37	chr10	51465015	51465015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagactgcggtggatacCtgagcattcaatacacatga	13	8	10	10	1	1	3	1	2	0	1	1	4	1	4	2	2	4	1	2	2	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:51465015C>A	ENST00000374095.5	-	7	1566	c.1441G>T	c.(1441-1443)Ggt>Tgt	p.G481C		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		481	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CGGTGGATACCTGAGCATTCA	0.532																																																	0													23	25	25					10																	51465015		1985	4157	6142	SO:0001583	missense	0																														ENST00000374095.5:c.1441G>T	10.37:g.51465015C>A	ENSP00000363208:p.Gly481Cys		A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.G481C	ENST00000374095.5	37	c.1441	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	13.01	2.108542	0.37242	.	.	ENSG00000204169	ENST00000374095	T	0.54479	0.57	.	.	.	.	0.052594	0.85682	D	0.000000	T	0.79281	0.4419	H	0.99058	4.415	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.76528	-0.2926	9	0.87932	D	0	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	481	Q5VUJ5	AGAP7_HUMAN	C	481	ENSP00000363208:G481C	ENSP00000363208:G481C	G	-	1	0	AGAP7	51135021	0.992000	0.36948	0.024000	0.17045	0.024000	0.10985	5.227000	0.65305	0.172000	0.19760	0.175000	0.17021	GGT	AGAP7	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	ENSG00000204169		0.532	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	-	0	58	0	C			51465015	-1	tier1	-	no_errors	ENST00000374095	ensembl	human	known	74_37	missense	18.27	85	19	SNP	1.000	A	A	51465015	C	A	51465015	3	1	12	1	0	0	0	0	1	0	0	0	373	681	24	3	554	3	AGAP7	10	51465015	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1343074	51465015	84069732	249	3352											
AGAP7	653268	genome.wustl.edu	37	chr10	51483216	51483216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaatattgtgcttgcctctgGattggcagaagggttaaact	10	13	12	6	0	1	1	0	0	1	1	1	3	1	2	1	3	3	3	1	3	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:51483216G>C	ENST00000374095.5	-	2	375	c.250C>G	c.(250-252)Cca>Gca	p.P84A		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		84					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGCCTCTGGATTGGCAGAA	0.373																																																	0													8	9	9					10																	51483216		1592	3460	5052	SO:0001583	missense	0																														ENST00000374095.5:c.250C>G	10.37:g.51483216G>C	ENSP00000363208:p.Pro84Ala		A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.P84A	ENST00000374095.5	37	c.250	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	11.18	1.564127	0.27915	.	.	ENSG00000204169	ENST00000374095	D	0.87334	-2.24	0.589	0.589	0.17452	.	0.530450	0.20252	N	0.096050	D	0.83257	0.5215	L	0.48218	1.51	0.20196	N	0.999921	P	0.40476	0.718	P	0.45428	0.48	T	0.75297	-0.3367	10	0.87932	D	0	.	7.0478	0.25055	1.0E-4:0.0:0.9999:0.0	.	84	Q5VUJ5	AGAP7_HUMAN	A	84	ENSP00000363208:P84A	ENSP00000363208:P84A	P	-	1	0	AGAP7	51153222	1.000000	0.71417	0.125000	0.21846	0.035000	0.12851	3.974000	0.56852	0.604000	0.29930	0.175000	0.17021	CCA	AGAP7	-	NULL	ENSG00000204169		0.373	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	-	0	138	0	G			51483216	-1	tier1	-	no_errors	ENST00000374095	ensembl	human	known	74_37	missense	10.78	182	22	SNP	0.993	C	C	51483216	G	C	51483216	3	2	12	1	0	0	0	0	1	0	0	0	373	1174	41	5	1765	5	AGAP7	10	51483216	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	18201	51483216	84051531	250	3353											
BICC1	80114	genome.wustl.edu	37	chr10	60566769	60566769	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgtttccaaagctatgTtaaagaaaccagtggtgacg	13	13	9	6	1	0	2	0	1	0	1	1	2	1	2	2	1	2	3	2	1	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:60566769T>G	ENST00000373886.3	+	17	2231	c.2227T>G	c.(2227-2229)Tta>Gta	p.L743V	BICC1_ENST00000263103.1_Missense_Mutation_p.L369V	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	743					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAAAGCTATGTTAAAGAAACC	0.383																																																	0													68	66	66					10																	60566769		2203	4300	6503	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2227T>G	10.37:g.60566769T>G	ENSP00000362993:p.Leu743Val			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.L743V	ENST00000373886.3	37	c.2227	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	T	11.65	1.703046	0.30232	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.47177	1.7;0.85	5.58	4.43	0.53597	.	0.172233	0.43747	D	0.000522	T	0.59783	0.2219	L	0.56769	1.78	0.51482	D	0.999921	D;D	0.76494	0.999;0.996	D;P	0.63793	0.918;0.754	T	0.59516	-0.7440	10	0.42905	T	0.14	-8.5436	11.7663	0.51933	0.0:0.0702:0.0:0.9298	.	663;743	E7EU62;Q9H694	.;BICC1_HUMAN	V	743;369	ENSP00000362993:L743V;ENSP00000263103:L369V	ENSP00000263103:L369V	L	+	1	2	BICC1	60236775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.211000	0.32382	2.127000	0.65507	0.533000	0.62120	TTA	BICC1	-	NULL	ENSG00000122870		0.383	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0	63	0	T	NM_025044		60566769	1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	missense	34.33	44	23	SNP	1.000	G	G	60566769	T	G	60566769	3	3	12	1	0	0	0	0	1	0	0	0	1429	1722	60	4	2293	4	BICC1	10	60566769	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	9083553	60566769	74967978	251	3354											
ANK3	288	genome.wustl.edu	37	chr10	61829130	61829130	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatctcttacacagtgtcCttgtagtacccctgtctttt	6	18	5	12	0	2	0	0	0	2	0	4	0	3	0	3	0	2	2	3	0	4	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:61829130C>A	ENST00000280772.2	-	37	11700	c.11509G>T	c.(11509-11511)Gga>Tga	p.G3837*	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3837					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACACAGTGTCCTTGTAGTACC	0.403																																																	0													262	259	260					10																	61829130		2203	4300	6503	SO:0001587	stop_gained	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11509G>T	10.37:g.61829130C>A	ENSP00000280772:p.Gly3837*		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G3837*	ENST00000280772.2	37	c.11509	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	53	20.099366	0.99927	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.07	5.07	0.68467	.	0.000000	0.41097	D	0.000960	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	14.4204	0.67180	0.0:0.8525:0.1475:0.0	.	.	.	.	X	3837	.	ENSP00000280772:G3837X	G	-	1	0	ANK3	61499136	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.824000	0.39072	2.511000	0.84671	0.650000	0.86243	GGA	ANK3	-	NULL	ENSG00000151150		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	49	0	C	NM_020987		61829130	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	A	A	61829130	C	A	61829130	4	1	12	1	0	0	0	0	0	1	0	0	622	690	24	3	1965	3	ANK3	10	61829130	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1262361	61829130	73705617	252	3355											
TMEM26	219623	genome.wustl.edu	37	chr10	63170312	63170312	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaccaccacgaggaagttcTtcgcggcaaagaacaccagc	14	4	9	14	3	1	1	0	0	1	1	2	3	1	2	3	2	2	2	3	2	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:63170312T>G	ENST00000399298.3	-	6	1243	c.875A>C	c.(874-876)aAg>aCg	p.K292T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	292						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGAAGTTCTTCGCGGCAAA	0.502																																																	0													107	112	110					10																	63170312		2108	4227	6335	SO:0001583	missense	0			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.875A>C	10.37:g.63170312T>G	ENSP00000382237:p.Lys292Thr		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	pfam_Transmembrane_26	p.K292T	ENST00000399298.3	37	c.875	CCDS41530.1	10	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836010	0.71373	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86486	0.1794	9	0.87932	D	0	-2.2548	16.4288	0.83833	0.0:0.0:0.0:1.0	.	292	Q6ZUK4	TMM26_HUMAN	T	292	.	ENSP00000382237:K292T	K	-	2	0	TMEM26	62840318	1.000000	0.71417	0.994000	0.49952	0.131000	0.20780	7.651000	0.83577	2.282000	0.76494	0.533000	0.62120	AAG	TMEM26	-	pfam_Transmembrane_26	ENSG00000196932		0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM26	HGNC	protein_coding	OTTHUMT00000359121.1	-	0	63	0	T	NM_178505		63170312	-1	tier1	-	no_errors	ENST00000399298	ensembl	human	known	74_37	missense	35.09	37	20	SNP	1.000	G	G	63170312	T	G	63170312	3	3	12	1	0	0	0	0	1	0	0	0	16198	1609	56	4	235	4	TMEM26	10	63170312	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1341182	63170312	72364435	253	3356											
KCNMA1	3778	genome.wustl.edu	37	chr10	78704539	78704539	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgtccttaccttgggaaTtagcctgcaagactccgatg	8	11	11	11	1	0	1	0	0	0	1	2	3	2	2	4	2	3	2	4	2	4	3	rs577988617		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:78704539T>G	ENST00000286628.8	-	23	2893	c.2894A>C	c.(2893-2895)aAt>aCt	p.N965T	KCNMA1_ENST00000372440.1_Missense_Mutation_p.N907T|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.N907T|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.N965T|KCNMA1_ENST00000286627.5_Missense_Mutation_p.N907T|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.N968T|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N969T|KCNMA1_ENST00000404857.1_Missense_Mutation_p.N948T|RP11-443A13.5_ENST00000598613.1_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	965					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACCTTGGGAATTAGCCTGCAA	0.473													T|||	1	0.000199681	0	0	5008	,	,		20480	0.001		0	False		,,,				2504	0																0													123	105	111					10																	78704539		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2894A>C	10.37:g.78704539T>G	ENSP00000286628:p.Asn965Thr		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.N969T	ENST00000286628.8	37	c.2906		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	15.06|15.06|15.06	2.721256|2.721256|2.721256	0.48728|0.48728|0.48728	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	.|T;T;T;T;T;T;T;T;T|.	.|0.51071|.	.|0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72|.	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	.|0.094831|.	.|0.64402|.	.|D|.	.|0.000001|.	T|T|.	0.48960|0.48960|.	0.1529|0.1529|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B;B;B;B;B;B;B;B|.	.|0.29378|.	.|0.243;0.077;0.012;0.077;0.004;0.001;0.109;0.077|.	.|B;B;B;B;B;B;B;B|.	.|0.35727|.	.|0.209;0.071;0.015;0.071;0.004;0.004;0.149;0.103|.	T|T|.	0.46456|0.46456|.	-0.9190|-0.9190|.	5|10|.	.|0.11794|.	.|T|.	.|0.64|.	-14.4543|-14.4543|-14.4543	16.0518|16.0518|16.0518	0.80769|0.80769|0.80769	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|936;910;948;965;907;718;968;907|.	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.|.;.;.;KCMA1_HUMAN;.;.;.;.|.	L|T|Y	858|907;844;900;939;902;907;907;939;969;968;948;718|895;614	.|ENSP00000361517:N907T;ENSP00000361485:N844T;ENSP00000361514:N900T;ENSP00000396608:N939T;ENSP00000361520:N907T;ENSP00000286627:N907T;ENSP00000385552:N969T;ENSP00000346321:N968T;ENSP00000385806:N948T|.	.|ENSP00000286627:N907T|.	I|N|X	-|-|-	1|2|3	0|0|2	KCNMA1|KCNMA1|KCNMA1	78374545|78374545|78374545	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.953000|7.953000|7.953000	0.87836|0.87836|0.87836	2.191000|2.191000|2.191000	0.70037|0.70037|0.70037	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	ATT|AAT|TAA	KCNMA1	-	NULL	ENSG00000156113		0.473	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	80	0	T	NM_002247		78704539	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	G	G	78704539	T	G	78704539	3	3	12	1	0	0	0	0	1	0	0	0	8100	1493	52	4	869	4	KCNMA1	10	78704539	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	15534227	78704539	56830208	254	3357											
CRTAC1	55118	genome.wustl.edu	37	chr10	99696050	99696050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtagtagggtgagctgcGctcatcgaccgcgatgttca	7	9	14	11	6	2	1	2	1	0	0	3	3	2	1	1	1	2	5	1	1	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:99696050G>A	ENST00000370597.3	-	3	653	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R100C|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R100C	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	100						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGTGAGCTGCGCTCATCGACC	0.637																																																	0													65	54	58					10																	99696050		2203	4300	6503	SO:0001583	missense	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.298C>T	10.37:g.99696050G>A	ENSP00000359629:p.Arg100Cys		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.R100C	ENST00000370597.3	37	c.298	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292528	0.59976	.	.	ENSG00000095713	ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T	0.76316	-1.01;1.28;-0.16;-0.17	4.76	3.75	0.43078	.	0.058751	0.64402	D	0.000002	T	0.81786	0.4896	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;P	0.57679	0.731;0.825	T	0.81788	-0.0772	10	0.38643	T	0.18	-18.3388	15.5548	0.76184	0.0:0.0:0.8523:0.1477	.	100;100	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	C	100;100;92;100	ENSP00000359629:R100C;ENSP00000298819:R100C;ENSP00000310810:R92C;ENSP00000359623:R100C	ENSP00000298819:R100C	R	-	1	0	CRTAC1	99686040	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	2.993000	0.49425	2.204000	0.70986	0.313000	0.20887	CGC	CRTAC1	-	NULL	ENSG00000095713		0.637	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	-	0	130	0	G	NM_018058		99696050	-1	tier1	-	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	18.60	68	16	SNP	1.000	A	A	99696050	G	A	99696050	3	1	12	1	0	0	0	0	1	0	0	0	3903	1087	38	1	1739	1	CRTAC1	10	99696050	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	20991511	99696050	35838697	255	3358											
PPRC1	23082	genome.wustl.edu	37	chr10	103899460	103899460	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacactggagtcagagacaGaggctgctgtgcccaaggta	11	7	13	10	0	1	2	1	0	0	2	1	4	1	3	1	3	3	3	1	3	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:103899460G>T	ENST00000278070.2	+	5	1234	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	PPRC1_ENST00000413464.2_Nonsense_Mutation_p.E399*|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTCAGAGACAGAGGCTGCTGT	0.562																																																	0													110	117	114					10																	103899460		2203	4300	6503	SO:0001587	stop_gained	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1195G>T	10.37:g.103899460G>T	ENSP00000278070:p.Glu399*		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E399*	ENST00000278070.2	37	c.1195	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343170	0.41498	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	.	.	.	5.82	5.82	0.92795	.	0.441512	0.21178	N	0.078871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.8254	0.85929	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000278070:E399X	E	+	1	0	PPRC1	103889450	0.174000	0.23070	0.105000	0.21289	0.012000	0.07955	2.679000	0.46909	2.751000	0.94390	0.555000	0.69702	GAG	PPRC1	-	NULL	ENSG00000148840		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1		0	41	0	G	NM_015062		103899460	1			no_errors	ENST00000278070	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.036	T	T	103899460	G	T	103899460	4	4	12	1	0	0	0	0	0	1	0	0	12452	943	33	3	1213	3	PPRC1	10	103899460	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4203410	103899460	31635287	256	3359											
GBF1	8729	genome.wustl.edu	37	chr10	104126909	104126909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctatgctgtcatcatgcTtaatactgaccagcacaacc	11	10	7	13	0	2	1	2	1	0	0	2	1	2	1	3	1	5	3	3	1	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:104126909T>C	ENST00000369983.3	+	20	2758	c.2498T>C	c.(2497-2499)cTt>cCt	p.L833P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	833	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GTCATCATGCTTAATACTGAC	0.493																																																	0													204	177	186					10																	104126909		2203	4300	6503	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2498T>C	10.37:g.104126909T>C	ENSP00000359000:p.Leu833Pro		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.L833P	ENST00000369983.3	37	c.2498	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	T	25.7	4.663710	0.88251	.	.	ENSG00000107862	ENST00000369983	D	0.81821	-1.54	5.37	5.37	0.77165	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.127702	0.56097	D	0.000040	D	0.93595	0.7955	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.95885	0.8902	10	0.87932	D	0	-11.9486	15.3623	0.74487	0.0:0.0:0.0:1.0	.	833;833;833	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	P	833	ENSP00000359000:L833P	ENSP00000359000:L833P	L	+	2	0	GBF1	104116899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.029000	0.59856	0.460000	0.39030	CTT	GBF1	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000107862		0.493	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1		0	60	0	T			104126909	1			no_errors	ENST00000369983	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	C	C	104126909	T	C	104126909	3	2	12	1	0	0	0	0	1	0	0	0	6296	1609	56	4	2572	4	GBF1	10	104126909	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	227449	104126909	31407838	257	3360											
CCDC147	159686	genome.wustl.edu	37	chr10	106209896	106209896	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatatgaggtagagaaacTtaccaatgagctccagaatt	17	10	8	6	0	0	4	0	2	0	2	1	5	1	4	2	1	3	2	2	1	8	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:106209896T>C	ENST00000369704.3	+	17	2578	c.2444T>C	c.(2443-2445)cTt>cCt	p.L815P		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		815						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GTAGAGAAACTTACCAATGAG	0.323																																																	0													77	81	80					10																	106209896		2203	4300	6503	SO:0001583	missense	0																														ENST00000369704.3:c.2444T>C	10.37:g.106209896T>C	ENSP00000358718:p.Leu815Pro		D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.L815P	ENST00000369704.3	37	c.2444	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	T	19.13	3.768587	0.69878	.	.	ENSG00000120051	ENST00000369704	T	0.52754	0.65	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80027	-0.1554	10	0.59425	D	0.04	-7.5288	16.0745	0.80960	0.0:0.0:0.0:1.0	.	815	Q5T655	CC147_HUMAN	P	815	ENSP00000358718:L815P	ENSP00000358718:L815P	L	+	2	0	CCDC147	106199886	1.000000	0.71417	0.946000	0.38457	0.658000	0.38924	6.719000	0.74718	2.201000	0.70794	0.528000	0.53228	CTT	CCDC147	-	NULL	ENSG00000120051		0.323	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	-	0	44	0	T			106209896	1	tier1	-	no_errors	ENST00000369704	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	C	C	106209896	T	C	106209896	3	2	12	1	0	0	0	0	1	0	0	0	2788	1609	56	4	2510	4	CCDC147	10	106209896	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2082987	106209896	29324851	258	3361											
RAB11FIP2	22841	genome.wustl.edu	37	chr10	119805614	119805614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcagatctttggcttGgagcactgtgacctgcacgt	6	13	12	10	1	2	2	1	1	1	1	2	3	2	3	1	3	2	4	1	3	0	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:119805614G>T	ENST00000355624.3	-	1	500	c.61C>A	c.(61-63)Caa>Aaa	p.Q21K	RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000454857.1_RNA|CASC2_ENST00000426021.1_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.Q21K|CASC2_ENST00000435944.1_RNA|CASC2_ENST00000454781.1_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	21	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for its cellular translocation to the plasma membrane.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCTTTGGCTTGGAGCACTGTG	0.507																																																	0													262	240	247					10																	119805614		2203	4300	6503	SO:0001583	missense	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.61C>A	10.37:g.119805614G>T	ENSP00000347839:p.Gln21Lys		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.Q21K	ENST00000355624.3	37	c.61	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737966	0.89573	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.68025	-0.3;-0.3	4.83	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.125778	0.56097	D	0.000034	T	0.59542	0.2201	N	0.24115	0.695	0.58432	D	0.999997	B;P	0.42456	0.423;0.78	P;P	0.47941	0.562;0.506	T	0.56038	-0.8045	10	0.24483	T	0.36	-13.3297	14.0265	0.64588	0.0:0.1512:0.8487:0.0	.	21;21	Q3I768;Q7L804	.;RFIP2_HUMAN	K	21	ENSP00000347839:Q21K;ENSP00000358200:Q21K	ENSP00000347839:Q21K	Q	-	1	0	RAB11FIP2	119795604	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.564000	0.82326	2.416000	0.81992	0.549000	0.68633	CAA	RAB11FIP2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000107560		0.507	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	-	0	73	0	G	NM_014904		119805614	-1	tier1	-	no_errors	ENST00000369199	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	119805614	G	T	119805614	3	4	12	1	0	0	0	0	1	0	0	0	12939	1357	47	3	1497	3	RAB11FIP2	10	119805614	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	13595718	119805614	15729133	259	3362											
IKZF5	64376	genome.wustl.edu	37	chr10	124755553	124755553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagccgggctgttcctttGctggcatagttgcagtaccg	7	12	12	10	2	0	0	0	0	0	0	1	0	1	0	3	2	4	7	3	2	3	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:124755553G>T	ENST00000368886.5	-	4	593	c.273C>A	c.(271-273)agC>agA	p.S91R	IKZF5_ENST00000479103.1_5'Flank|PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		CTGTTCCTTTGCTGGCATAGT	0.473																																																	0													159	158	158					10																	124755553		1900	4116	6016	SO:0001583	missense	0			AF230808	CCDS41574.1	10q26	2011-05-31	2006-08-25	2006-08-25	ENSG00000095574	ENSG00000095574		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	14283	protein-coding gene	gene with protein product		606238	"zinc finger protein, subfamily 1A, 5", "zinc finger protein, subfamily 1A, 5 (Pegasus)"	ZNFN1A5		10978333	Standard	NM_001271840		Approved	Pegasus, FLJ22973	uc021qaj.2	Q9H5V7	OTTHUMG00000019192	ENST00000368886.5:c.273C>A	10.37:g.124755553G>T	ENSP00000357881:p.Ser91Arg		B3KVH7|D3DRE7|Q9H2T0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S91R	ENST00000368886.5	37	c.273	CCDS41574.1	10	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361816	0.82353	.	.	ENSG00000095574	ENST00000368886	T	0.01599	4.74	5.87	2.98	0.34508	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.040995	0.85682	D	0.000000	T	0.01222	0.0040	N	0.14661	0.345	0.53005	D	0.999962	P	0.42827	0.791	B	0.32677	0.15	T	0.70817	-0.4769	10	0.54805	T	0.06	-15.7347	11.4531	0.50164	0.1971:0.0:0.8029:0.0	.	91	Q9H5V7	IKZF5_HUMAN	R	91	ENSP00000357881:S91R	ENSP00000357881:S91R	S	-	3	2	IKZF5	124745543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.804000	0.55568	0.922000	0.37019	0.655000	0.94253	AGC	IKZF5	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000095574		0.473	IKZF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF5	HGNC	protein_coding	OTTHUMT00000050820.2	-	0	122	0	G	NM_022466		124755553	-1	tier1	-	no_errors	ENST00000368886	ensembl	human	known	74_37	missense	23.42	85	26	SNP	1.000	T	T	124755553	G	T	124755553	3	4	12	1	0	0	0	0	1	0	0	0	7645	1310	46	3	994	3	IKZF5	10	124755553	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4949939	124755553	10779194	260	3363											
CPXM2	119587	genome.wustl.edu	37	chr10	125506303	125506303	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgctgtcgtctcttctGcccccgcagcttcagccgcc	3	9	8	21	4	3	0	1	0	2	0	5	0	3	0	5	0	3	3	5	0	0	2	rs139450310	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:125506303G>A	ENST00000241305.3	-	14	2402	c.2248C>T	c.(2248-2250)Cag>Tag	p.Q750*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	750			Q -> R (in dbSNP:rs7088479). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGTCTCTTCTGCCCCCGCAGC	0.577													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		17373	0		0	False		,,,				2504	0																0								G	stop/GLN	2,4404	2.1+/-5.4	0,2,2201	52	56	55		2248	0.8	0	10	dbSNP_134	55	0,8600		0,0,4300	no	stop-gained	CPXM2	NM_198148.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		750/757	125506303	2,13004	2203	4300	6503	SO:0001587	stop_gained	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2248C>T	10.37:g.125506303G>A	ENSP00000241305:p.Gln750*		B4E3Q2	Nonsense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.Q750*	ENST00000241305.3	37	c.2248	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018041	0.75275	4.54E-4	0.0	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	5.24	0.796	0.18648	.	1.153700	0.06213	N	0.685429	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-35.2708	8.8417	0.35146	0.075:0.0:0.4508:0.4742	.	.	.	.	X	750;583;725	.	ENSP00000241305:Q750X	Q	-	1	0	CPXM2	125496293	0.916000	0.31088	0.003000	0.11579	0.090000	0.18270	1.348000	0.33987	0.314000	0.23086	-1.047000	0.02352	CAG	CPXM2	-	NULL	ENSG00000121898		0.577	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	-	0	53	0	G	NM_198148		125506303	-1	tier1	rs139450310	no_errors	ENST00000241305	ensembl	human	known	74_37	nonsense	18.87	43	10	SNP	0.001	A	A	125506303	G	A	125506303	4	1	12	1	0	0	0	0	0	1	0	0	3845	1328	46	3	26	3	CPXM2	10	125506303	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	750750	125506303	10028444	261	3364											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135103368	135103368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattttctgcaggaaggaCgggatctgctgctggacgat	8	10	14	9	2	2	0	0	0	2	0	2	5	2	4	1	4	3	3	1	4	1	2	rs369343734		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr10:135103368C>T	ENST00000252936.3	-	8	1359	c.1320G>A	c.(1318-1320)ccG>ccA	p.P440P	TUBGCP2_ENST00000368563.2_Silent_p.P440P|TUBGCP2_ENST00000417178.2_Silent_p.P310P|TUBGCP2_ENST00000368562.1_Silent_p.P33P|TUBGCP2_ENST00000543663.1_Silent_p.P468P			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	440					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.P440P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCAGGAAGGACGGGATCTGCT	0.607																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	262	162	196		1320	-9.1	0.3	10		196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TUBGCP2	NM_006659.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		440/903	135103368	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1320G>A	10.37:g.135103368C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_TUBGCP,superfamily_Ocr	p.P468	ENST00000252936.3	37	c.1404	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_TUBGCP,superfamily_Ocr	ENSG00000130640		0.607	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0	107	0	C			135103368	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	silent	13.51	64	10	SNP	0.014	T	T	135103368	C	T	135103368	2	4	12	1	0	0	0	0	0	0	0	1	16815	523	19	1		1	TUBGCP2	10	135103368	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	9597065	135103368	431379	262	3365											
CTSD	1509	genome.wustl.edu	37	chr11	1775327	1775327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtccacaatggcctcaCagccctccttgcacagggtc	7	9	9	16	0	1	0	1	0	0	0	4	0	3	0	4	2	2	1	4	2	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:1775327C>T	ENST00000236671.2	-	7	1001	c.869G>A	c.(868-870)tGt>tAt	p.C290Y	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.V161M	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	290					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AATGGCCTCACAGCCCTCCTT	0.697																																																	0													52	39	44					11																	1775327		2202	4299	6501	SO:0001583	missense	0			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"Cathepsins"	2529	protein-coding gene	gene with protein product	"ceroid-lipofuscinosis, neuronal 10"	116840	"cathepsin D (lysosomal aspartyl protease)"	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.869G>A	11.37:g.1775327C>T	ENSP00000236671:p.Cys290Tyr		Q6IB57	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.C290Y	ENST00000236671.2	37	c.869	CCDS7725.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.3|24.3	4.515357|4.515357	0.85389|0.85389	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000429746;ENST00000438213|ENST00000427721	T;T;T|.	0.58940|.	0.3;0.3;0.3|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86247|0.86247	0.5887|0.5887	M|M	0.93375|0.93375	3.41|3.41	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90409|0.90409	0.4408|0.4408	10|5	0.87932|.	D|.	0|.	.|.	17.2119|17.2119	0.86932|0.86932	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	290|.	P07339|.	CATD_HUMAN|.	Y|M	290;67;275|161	ENSP00000236671:C290Y;ENSP00000402586:C67Y;ENSP00000415036:C275Y|.	ENSP00000236671:C290Y|.	C|V	-|-	2|1	0|0	CTSD|RP11-295K3.1	1731903|1731903	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	5.503000|5.503000	0.66962|0.66962	2.378000|2.378000	0.81104|0.81104	0.462000|0.462000	0.41574|0.41574	TGT|GTG	CTSD	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000117984		0.697	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	-	0	69	0	C	NM_001909		1775327	-1	tier1	-	no_errors	ENST00000236671	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	1775327	C	T	1775327	3	4	12	1	0	0	0	0	1	0	0	0	4041	478	17	3	381	3	CTSD	11	1775327	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		1775327	133231189	263	3366											
OR52K1	390036	genome.wustl.edu	37	chr11	4510952	4510952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccatgctgcccctcgtgtCcacatactccttgctatttt	5	14	6	16	2	0	0	0	0	0	0	3	0	2	0	5	0	4	2	5	0	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:4510952C>A	ENST00000307632.3	+	1	844	c.822C>A	c.(820-822)gtC>gtA	p.V274V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCCTCGTGTCCACATACTCC	0.498																																																	0													199	178	185					11																	4510952		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.822C>A	11.37:g.4510952C>A			B9EH54|Q6IFK5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V274	ENST00000307632.3	37	c.822	CCDS31352.1	11																																																																																			OR52K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196778		0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K1	HGNC	protein_coding	OTTHUMT00000385846.1	-	0	89	0	C	NM_001005171		4510952	1	tier1	-	no_errors	ENST00000307632	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.037	A	A	4510952	C	A	4510952	2	1	12	1	0	0	0	0	0	0	0	1	11162	842	30	3		3	OR52K1	11	4510952	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2735625	4510952	130495564	264	3367											
OR51G1	79324	genome.wustl.edu	37	chr11	4945125	4945125	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacttctaagcactgagcTtagccccatcttgacaatac	12	10	6	13	0	2	2	0	2	2	0	2	2	2	2	2	0	5	3	2	0	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:4945125T>G	ENST00000321961.2	-	1	512	c.445A>C	c.(445-447)Agc>Cgc	p.S149R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCACTGAGCTTAGCCCCATC	0.527																																																	0													104	87	93					11																	4945125		2201	4298	6499	SO:0001583	missense	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.445A>C	11.37:g.4945125T>G	ENSP00000322546:p.Ser149Arg		B9EGW8|Q6IFH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S149R	ENST00000321961.2	37	c.445	CCDS31366.1	11	.	.	.	.	.	.	.	.	.	.	T	7.352	0.623051	0.14193	.	.	ENSG00000176879	ENST00000321961	T	0.37915	1.17	4.2	-1.45	0.08828	GPCR, rhodopsin-like superfamily (1);	1.461070	0.04684	U	0.412848	T	0.33904	0.0879	L	0.43923	1.385	0.09310	N	1	B	0.27013	0.166	B	0.37480	0.251	T	0.48980	-0.8986	10	0.72032	D	0.01	.	3.6149	0.08074	0.267:0.337:0.0:0.3961	.	149	Q8NGK1	O51G1_HUMAN	R	149	ENSP00000322546:S149R	ENSP00000322546:S149R	S	-	1	0	OR51G1	4901701	0.000000	0.05858	0.002000	0.10522	0.127000	0.20565	-0.124000	0.10595	0.114000	0.18032	0.455000	0.32223	AGC	OR51G1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176879		0.527	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0	28	0	T	NM_001005237		4945125	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.000	G	G	4945125	T	G	4945125	3	3	12	1	0	0	0	0	1	0	0	0	11137	1609	56	4	522	4	OR51G1	11	4945125	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	434173	4945125	130061391	265	3368											
OR52A5	390054	genome.wustl.edu	37	chr11	5153403	5153403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctaaggaaggtattataAgaatggcagccctgagtgtc	12	9	12	8	0	0	2	0	1	0	1	1	3	0	3	2	3	1	2	2	3	6	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:5153403A>G	ENST00000307388.1	-	1	469	c.470T>C	c.(469-471)cTt>cCt	p.L157P		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	157					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGTATTATAAGAATGGCAGC	0.473																																																	0													90	87	88					11																	5153403		2201	4298	6499	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.470T>C	11.37:g.5153403A>G	ENSP00000303469:p.Leu157Pro			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L157P	ENST00000307388.1	37	c.470	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	A	9.773	1.173304	0.21704	.	.	ENSG00000171944	ENST00000307388	T	0.16324	2.35	5.22	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000661	T	0.44030	0.1274	M	0.90705	3.14	0.20821	N	0.999847	D	0.67145	0.996	D	0.71184	0.972	T	0.31251	-0.9950	10	0.87932	D	0	.	9.2901	0.37782	0.8453:0.0:0.1547:0.0	.	157	Q9H2C5	O52A5_HUMAN	P	157	ENSP00000303469:L157P	ENSP00000303469:L157P	L	-	2	0	OR52A5	5109979	0.000000	0.05858	0.072000	0.20136	0.023000	0.10783	1.295000	0.33377	0.954000	0.37851	0.533000	0.62120	CTT	OR52A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171944		0.473	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	-	0	75	0	A	NM_001005160		5153403	-1	tier1	-	no_errors	ENST00000307388	ensembl	human	known	74_37	missense	17.24	48	10	SNP	0.001	G	G	5153403	A	G	5153403	3	3	12	1	0	0	0	0	1	0	0	0	11149	72	3	4	483	4	OR52A5	11	5153403	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	208278	5153403	129853113	266	3369											
OR56A1	120796	genome.wustl.edu	37	chr11	6048648	6048648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggaagctgatcgacctaAgatcataccagaagatggcc	14	6	11	10	1	1	4	1	1	0	3	2	6	1	5	3	2	2	1	3	2	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:6048648A>C	ENST00000316650.5	-	1	323	c.287T>G	c.(286-288)cTt>cGt	p.L96R		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCGACCTAAGATCATACCA	0.557																																																	0													108	96	100					11																	6048648		2201	4296	6497	SO:0001583	missense	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.287T>G	11.37:g.6048648A>C	ENSP00000321246:p.Leu96Arg		B2RNI2|Q6IFL0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L96R	ENST00000316650.5	37	c.287	CCDS31405.1	11	.	.	.	.	.	.	.	.	.	.	A	2.240	-0.373955	0.05034	.	.	ENSG00000180934	ENST00000316650	T	0.02944	4.1	4.16	0.149	0.14863	GPCR, rhodopsin-like superfamily (1);	0.727269	0.11036	N	0.606633	T	0.02193	0.0068	N	0.20881	0.62	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.45991	-0.9223	10	0.36615	T	0.2	.	5.9754	0.19375	0.5339:0.3073:0.0:0.1588	.	96	Q8NGH5	O56A1_HUMAN	R	96	ENSP00000321246:L96R	ENSP00000321246:L96R	L	-	2	0	OR56A1	6005224	0.000000	0.05858	0.153000	0.22517	0.119000	0.20118	-2.287000	0.01151	-0.070000	0.12908	0.533000	0.62120	CTT	OR56A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180934		0.557	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	-	0	80	0	A	NM_001001917		6048648	-1	tier1	-	no_errors	ENST00000316650	ensembl	human	known	74_37	missense	29.89	61	26	SNP	0.003	C	C	6048648	A	C	6048648	3	2	12	1	0	0	0	0	1	0	0	0	11172	72	3	4	673	4	OR56A1	11	6048648	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	895245	6048648	128957868	267	3370											
DNHD1	144132	genome.wustl.edu	37	chr11	6578354	6578354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcccaacagaacaggctCccgaggttttgtggactatc	9	9	11	12	1	0	1	0	0	0	1	2	3	1	2	2	3	3	3	2	3	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:6578354C>T	ENST00000527990.2	+	23	7829	c.7829C>T	c.(7828-7830)tCc>tTc	p.S2610F	DNHD1_ENST00000254579.6_Missense_Mutation_p.S2610F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	2610					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGAACAGGCTCCCGAGGTTTT	0.587																																																	0													61	54	56					11																	6578354		692	1591	2283	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.7829C>T	11.37:g.6578354C>T	ENSP00000436180:p.Ser2610Phe		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.S2610F	ENST00000527990.2	37	c.7829	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389323	0.25118	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000534210	T;T	0.28666	1.6;1.6	5.46	3.56	0.40772	.	.	.	.	.	T	0.24236	0.0587	N	0.08118	0	0.09310	N	1	D;D	0.56035	0.974;0.958	P;P	0.51866	0.621;0.682	T	0.06427	-1.0827	9	0.66056	D	0.02	.	9.4004	0.38428	0.0:0.7729:0.0:0.2271	.	2610;357	Q96M86;E9PHZ7	DNHD1_HUMAN;.	F	2610;2610;357	ENSP00000254579:S2610F;ENSP00000436180:S2610F	ENSP00000254579:S2610F	S	+	2	0	DNHD1	6534930	0.008000	0.16893	0.009000	0.14445	0.265000	0.26407	2.230000	0.42999	1.547000	0.49401	0.650000	0.86243	TCC	DNHD1	-	NULL	ENSG00000179532		0.587	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	28	0	C	NM_144666		6578354	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.001	T	T	6578354	C	T	6578354	3	4	12	1	0	0	0	0	1	0	0	0	4682	855	30	3	7928	3	DNHD1	11	6578354	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	529706	6578354	128428162	268	3371											
COPB1	1315	genome.wustl.edu	37	chr11	14510127	14510127	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaagtaatccaaagctcGatcctaaaaaaaataagaat	21	9	4	7	1	0	1	0	0	0	1	3	2	2	1	2	0	1	2	2	0	9	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:14510127G>T	ENST00000249923.3	-	6	910	c.610C>A	c.(610-612)Cga>Aga	p.R204R	COPB1_ENST00000439561.2_Silent_p.R204R	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	204					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCCAAAGCTCGATCCTAAAAA	0.294																																																	0													46	47	46					11																	14510127		2200	4290	6490	SO:0001819	synonymous_variant	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.610C>A	11.37:g.14510127G>T			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.R204	ENST00000249923.3	37	c.610	CCDS7815.1	11																																																																																			COPB1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	ENSG00000129083		0.294	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1		0	93	0	G	NM_016451		14510127	-1			no_errors	ENST00000249923	ensembl	human	known	74_37	silent	5.00	57	3	SNP	1.000	T	T	14510127	G	T	14510127	2	4	12	1	0	0	0	0	0	0	0	1	3735	1066	37	2		2	COPB1	11	14510127	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	7931773	14510127	120496389	269	3372											
NELL1	4745	genome.wustl.edu	37	chr11	20940867	20940867	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacaagagcttttggccaAgatgactgcaaaagtaggta	14	11	10	6	0	0	3	0	1	0	2	0	3	0	3	1	2	3	4	1	2	7	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:20940867A>C	ENST00000357134.5	+	7	898	c.746A>C	c.(745-747)aAg>aCg	p.K249T	NELL1_ENST00000298925.5_Missense_Mutation_p.K277T|NELL1_ENST00000532434.1_Missense_Mutation_p.K249T|NELL1_ENST00000325319.5_Missense_Mutation_p.K192T	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	249					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTTTTGGCCAAGATGACTGCA	0.323																																																	0													120	118	119					11																	20940867		2203	4299	6502	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.746A>C	11.37:g.20940867A>C	ENSP00000349654:p.Lys249Thr		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.K249T	ENST00000357134.5	37	c.746	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349842	0.82132	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80123	-1.34;-1.31;-1.23;-1.22	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	L	0.61218	1.895	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.83275	0.996;0.991;0.996;0.991	D	0.87772	0.2606	10	0.45353	T	0.12	-23.9465	16.1057	0.81220	1.0:0.0:0.0:0.0	.	192;277;249;249	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	T	277;249;192;249	ENSP00000298925:K277T;ENSP00000349654:K249T;ENSP00000317837:K192T;ENSP00000437170:K249T	ENSP00000298925:K277T	K	+	2	0	NELL1	20897443	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.701000	0.91331	2.281000	0.76405	0.528000	0.53228	AAG	NELL1	-	NULL	ENSG00000165973		0.323	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0	107	0	A	NM_006157		20940867	1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	18.60	70	16	SNP	1.000	C	C	20940867	A	C	20940867	3	2	12	1	0	0	0	0	1	0	0	0	10372	72	3	4	772	4	NELL1	11	20940867	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	6430740	20940867	114065649	270	3373											
TTC17	55761	genome.wustl.edu	37	chr11	43513624	43513624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatgccaagctctggaatGacgccgtcatagtagccacc	12	7	9	13	2	2	1	1	1	1	0	2	2	2	2	4	1	3	2	4	1	5	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:43513624G>A	ENST00000039989.4	+	23	3219	c.3205G>A	c.(3205-3207)Gac>Aac	p.D1069N		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1069					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCTCTGGAATGACGCCGTCAT	0.517																																																	0													260	219	233					11																	43513624		2203	4300	6503	SO:0001583	missense	0			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"Tetratricopeptide (TTC) repeat domain containing"	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.3205G>A	11.37:g.43513624G>A	ENSP00000039989:p.Asp1069Asn		G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D1069N	ENST00000039989.4	37	c.3205	CCDS31466.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.470726|5.470726	0.96274|0.96274	.|.	.|.	ENSG00000052841|ENSG00000052841	ENST00000039989|ENST00000418561	T|.	0.54675|.	0.56|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73361|0.73361	0.3577|0.3577	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.77004|.	0.989|.	T|T	0.71126|0.71126	-0.4683|-0.4683	10|5	0.72032|.	D|.	0.01|.	-18.3048|-18.3048	17.8183|17.8183	0.88642|0.88642	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1069|.	Q96AE7|.	TTC17_HUMAN|.	N|I	1069|99	ENSP00000039989:D1069N|.	ENSP00000039989:D1069N|.	D|M	+|+	1|3	0|0	TTC17|TTC17	43470200|43470200	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.888000|0.888000	0.51559|0.51559	9.496000|9.496000	0.97967|0.97967	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GAC|ATG	TTC17	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000052841		0.517	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	-	0	74	0	G	NM_018259		43513624	1	tier1	-	no_errors	ENST00000039989	ensembl	human	known	74_37	missense	10.67	67	8	SNP	1.000	A	A	43513624	G	A	43513624	3	1	12	1	0	0	0	0	1	0	0	0	16733	1290	45	3	3295	3	TTC17	11	43513624	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	22572757	43513624	91492892	271	3374											
FOLH1	2346	genome.wustl.edu	37	chr11	49192783	49192783	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaccaagaagaccaaattcTtctgcatcccagcttgcaaa	15	8	6	12	0	2	2	0	0	2	2	3	3	3	2	3	0	4	3	3	0	5	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:49192783T>G	ENST00000256999.2	-	11	1532	c.1272A>C	c.(1270-1272)gaA>gaC	p.E424D	FOLH1_ENST00000340334.7_Missense_Mutation_p.E409D|FOLH1_ENST00000533034.1_Missense_Mutation_p.E409D|FOLH1_ENST00000356696.3_Missense_Mutation_p.E424D|FOLH1_ENST00000343844.4_Missense_Mutation_p.E116D|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	424	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GACCAAATTCTTCTGCATCCC	0.323																																																	0													33	35	34					11																	49192783		2191	4273	6464	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1272A>C	11.37:g.49192783T>G	ENSP00000256999:p.Glu424Asp		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.E424D	ENST00000256999.2	37	c.1272	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437748	0.62955	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.21	3.06	0.35304	Peptidase M28 (1);	0.000000	0.64402	D	0.000018	D	0.96052	0.8714	H	0.97659	4.05	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.999	D	0.93472	0.6820	10	0.87932	D	0	.	4.2694	0.10778	0.0:0.1063:0.2077:0.686	.	409;409;424;424	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	D	424;424;409;116;409;427	ENSP00000256999:E424D;ENSP00000349129:E424D;ENSP00000344131:E409D;ENSP00000344086:E116D;ENSP00000431463:E409D	ENSP00000256999:E424D	E	-	3	2	FOLH1	49149359	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	0.227000	0.17795	0.628000	0.30357	0.496000	0.49642	GAA	FOLH1	-	pfam_Peptidase_M28	ENSG00000086205		0.323	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	208	0	T	NM_004476		49192783	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	20.25	130	33	SNP	1.000	G	G	49192783	T	G	49192783	3	3	12	1	0	0	0	0	1	0	0	0	6001	1606	56	4	1016	4	FOLH1	11	49192783	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	5679159	49192783	85813733	272	3375											
OR4C12	283093	genome.wustl.edu	37	chr11	50003726	50003726	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatctcagtagcaccaaaAatgtgttctgcataggcttg	12	12	9	8	0	2	1	1	1	2	0	3	1	2	1	1	1	2	5	1	1	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:50003726A>T	ENST00000335238.4	-	1	345	c.312T>A	c.(310-312)atT>atA	p.I104I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAGCACCAAAAATGTGTTCTG	0.443																																																	0													141	140	141					11																	50003726		2201	4294	6495	SO:0001819	synonymous_variant	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.312T>A	11.37:g.50003726A>T			B2RNF0|Q6IF49	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I104	ENST00000335238.4	37	c.312	CCDS31496.1	11																																																																																			OR4C12	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221954		0.443	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	-	0	83	0	A	NM_001005270		50003726	-1	tier1	-	no_errors	ENST00000335238	ensembl	human	known	74_37	silent	12.05	73	10	SNP	0.787	T	T	50003726	A	T	50003726	2	4	12	1	0	0	0	0	0	0	0	1	11085	10	1	5		5	OR4C12	11	50003726	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	810943	50003726	85002790	273	3376											
OR4A5	81318	genome.wustl.edu	37	chr11	51411646	51411646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaacatatatgaaaatacaGggtacaaaaaagaggacaac	22	6	7	6	0	0	2	0	1	0	1	0	3	0	3	0	2	4	1	0	2	11	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:51411646G>T	ENST00000319760.6	-	1	802	c.750C>A	c.(748-750)ccC>ccA	p.P250P		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P250Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAAATACAGGGTACAAAAA	0.393																																																	1	Substitution - Missense(1)	lung(1)											54	53	53					11																	51411646		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.750C>A	11.37:g.51411646G>T			Q6IF84	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P250	ENST00000319760.6	37	c.750	CCDS31497.1	11																																																																																			OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221840		0.393	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1		0	67	0	G	NM_001005272		51411646	-1			no_errors	ENST00000319760	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.002	T	T	51411646	G	T	51411646	2	4	12	1	0	0	0	0	0	0	0	1	11082	987	35	3		3	OR4A5	11	51411646	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1407920	51411646	83594870	274	3377											
OR4C16	219428	genome.wustl.edu	37	chr11	55340513	55340513	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagctttggagcaagaaaTtgatcacagatgacaaaaga	18	7	11	5	0	1	5	1	2	0	3	1	7	1	7	0	2	2	2	0	2	5	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:55340513T>G	ENST00000314634.3	+	1	910	c.910T>G	c.(910-912)Ttg>Gtg	p.L304V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GAGCAAGAAATTGATCACAGA	0.328																																																	0													34	33	33					11																	55340513		2200	4296	6496	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.910T>G	11.37:g.55340513T>G	ENSP00000324913:p.Leu304Val		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L304V	ENST00000314634.3	37	c.910	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	T	3.450	-0.112236	0.06881	.	.	ENSG00000181935	ENST00000314634	T	0.37915	1.17	4.68	-9.37	0.00626	.	1.557740	0.04190	N	0.328181	T	0.13756	0.0333	N	0.16201	0.385	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.25152	-1.0140	10	0.02654	T	1	.	5.1345	0.14928	0.1038:0.1512:0.5399:0.2051	.	304	Q8NGL9	OR4CG_HUMAN	V	304	ENSP00000324913:L304V	ENSP00000324913:L304V	L	+	1	2	OR4C16	55097089	0.000000	0.05858	0.000000	0.03702	0.596000	0.36781	-7.102000	0.00044	-1.622000	0.01560	0.448000	0.29417	TTG	OR4C16	-	NULL	ENSG00000181935		0.328	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	20	0	T	NM_001004701		55340513	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.000	G	G	55340513	T	G	55340513	3	3	12	1	0	0	0	0	1	0	0	0	11088	1490	52	4	912	4	OR4C16	11	55340513	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	3928867	55340513	79666003	275	3378											
OR5D14	219436	genome.wustl.edu	37	chr11	55563498	55563498	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatatctctggggcatgtTtggccccttggtactccttt	4	16	10	11	0	2	0	1	0	1	0	4	0	3	0	3	4	1	3	3	4	2	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:55563498T>G	ENST00000335605.1	+	1	467	c.467T>G	c.(466-468)tTt>tGt	p.F156C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGGGGCATGTTTGGCCCCTTG	0.498																																																	0													152	147	149					11																	55563498		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.467T>G	11.37:g.55563498T>G	ENSP00000334456:p.Phe156Cys		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F156C	ENST00000335605.1	37	c.467	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	t	4.253	0.045917	0.08243	.	.	ENSG00000186113	ENST00000335605	T	0.38077	1.16	5.08	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.148155	0.31721	N	0.007170	T	0.28067	0.0692	L	0.31845	0.965	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.26430	-1.0103	10	0.87932	D	0	-17.1087	9.7123	0.40254	0.0:0.0829:0.0:0.9171	.	156	Q8NGL3	OR5DE_HUMAN	C	156	ENSP00000334456:F156C	ENSP00000334456:F156C	F	+	2	0	OR5D14	55320074	0.049000	0.20398	0.196000	0.23383	0.015000	0.08874	2.561000	0.45905	0.786000	0.33708	-0.269000	0.10298	TTT	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.498	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0	110	0	T	NM_001004735		55563498	1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	23.66	71	22	SNP	0.010	G	G	55563498	T	G	55563498	3	3	12	1	0	0	0	0	1	0	0	0	11194	1841	64	4	469	4	OR5D14	11	55563498	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	222985	55563498	79443018	276	3379											
OR5L1	219437	genome.wustl.edu	37	chr11	55579377	55579377	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtgcgtgtggagctggcTtcttgctgctacttctgtgg	4	14	15	8	1	2	0	0	0	2	0	2	1	2	1	0	4	5	4	0	4	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:55579377T>G	ENST00000333973.2	+	1	524	c.435T>G	c.(433-435)gcT>gcG	p.A145A		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGAGCTGGCTTCTTGCTGCT	0.478																																																	0													215	175	189					11																	55579377		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.435T>G	11.37:g.55579377T>G			B2RNK6|Q6IFD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A145	ENST00000333973.2	37	c.435	CCDS31509.1	11																																																																																			OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186117		0.478	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	-	0	72	0	T	NM_001004738		55579377	1	tier1	-	no_errors	ENST00000333973	ensembl	human	known	74_37	silent	30.19	37	16	SNP	0.000	G	G	55579377	T	G	55579377	2	3	12	1	0	0	0	0	0	0	0	1	11209	1596	56	4		4	OR5L1	11	55579377	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	15879	55579377	79427139	277	3380											
NRXN2	9379	genome.wustl.edu	37	chr11	64428468	64428468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagcctgcccggagtgctgCtgtccacacctctgggggca	5	8	14	14	1	1	0	0	0	1	0	2	1	2	1	4	3	4	4	4	3	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:64428468C>T	ENST00000377551.1	-	9	2153	c.1942G>A	c.(1942-1944)Gca>Aca	p.A648T	NRXN2_ENST00000409571.1_Missense_Mutation_p.A641T|NRXN2_ENST00000265459.6_Missense_Mutation_p.A648T|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000377559.3_Missense_Mutation_p.A617T|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	648	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGAGTGCTGCTGTCCACACC	0.682																																																	0													29	29	29					11																	64428468		2200	4297	6497	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1942G>A	11.37:g.64428468C>T	ENSP00000366774:p.Ala648Thr		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A648T	ENST00000377551.1	37	c.1942	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.416701	0.96092	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.8	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.41938	U	0.000790	T	0.80059	0.4554	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.997	T	0.82230	-0.0560	10	0.87932	D	0	.	15.3943	0.74778	0.0:1.0:0.0:0.0	.	617;648;394	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	T	648;617;648;617;641	ENSP00000366774:A648T;ENSP00000366782:A617T;ENSP00000265459:A648T;ENSP00000386416:A641T	ENSP00000265459:A648T	A	-	1	0	NRXN2	64185044	1.000000	0.71417	0.527000	0.27925	0.993000	0.82548	7.541000	0.82084	2.496000	0.84212	0.555000	0.69702	GCA	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.682	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0	62	0	C	NM_015080		64428468	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.998	T	T	64428468	C	T	64428468	3	4	12	1	0	0	0	0	1	0	0	0	10705	797	28	3	3521	3	NRXN2	11	64428468	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	8849091	64428468	70578048	278	3381											
C11orf85	283129	genome.wustl.edu	37	chr11	64707232	64707232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaggctgtgtccccaCtcagaatctgtaaggaaaac	11	8	10	12	0	2	1	1	0	1	1	3	2	3	2	3	3	1	3	3	3	4	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:64707232C>T	ENST00000301896.5	-	10	627	c.554G>A	c.(553-555)aGt>aAt	p.S185N	C11orf85_ENST00000536065.1_Silent_p.E100E|C11orf85_ENST00000530444.1_Silent_p.E128E|C11orf85_ENST00000432175.1_Missense_Mutation_p.S185N	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	185										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TGTGTCCCCACTCAGAATCTG	0.537																																																	0													64	62	63					11																	64707232		2201	4297	6498	SO:0001583	missense	0			AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.554G>A	11.37:g.64707232C>T	ENSP00000301896:p.Ser185Asn		B3KS99	Missense_Mutation	SNP	NULL	p.S185N	ENST00000301896.5	37	c.554	CCDS31603.1	11	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878104	0.33162	.	.	ENSG00000168070	ENST00000301896;ENST00000432175	.	.	.	3.61	1.74	0.24563	.	1.934640	0.02681	N	0.109682	T	0.37019	0.0988	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.17198	-1.0377	9	0.37606	T	0.19	-13.0988	5.9172	0.19061	0.0:0.7731:0.0:0.2269	.	185	Q3KP22	CK085_HUMAN	N	185	.	ENSP00000301896:S185N	S	-	2	0	C11orf85	64463808	0.000000	0.05858	0.013000	0.15412	0.209000	0.24338	0.054000	0.14205	0.516000	0.28340	0.563000	0.77884	AGT	C11orf85	-	NULL	ENSG00000168070		0.537	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf85	HGNC	protein_coding	OTTHUMT00000385477.1	-	0	39	0	C	NM_001037225		64707232	-1	tier1	-	no_errors	ENST00000301896	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.020	T	T	64707232	C	T	64707232	3	4	12	1	0	0	0	0	1	0	0	0	1673	565	20	3	100	3	C11orf85	11	64707232	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	278764	64707232	70299284	279	3382											
C2CD3	26005	genome.wustl.edu	37	chr11	73844510	73844510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcattaataggaggatGaacttggtccaacaacatgc	14	11	8	8	0	2	1	1	1	1	0	3	3	3	3	1	3	4	0	1	3	5	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:73844510G>T	ENST00000334126.7	-	6	1274	c.1048C>A	c.(1048-1050)Cat>Aat	p.H350N	C2CD3_ENST00000539061.1_Missense_Mutation_p.H350N|C2CD3_ENST00000313663.7_Missense_Mutation_p.H350N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	350					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATAGGAGGATGAACTTGGTCC	0.393																																																	0													140	125	130					11																	73844510		2200	4293	6493	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1048C>A	11.37:g.73844510G>T	ENSP00000334379:p.His350Asn		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.H350N	ENST00000334126.7	37	c.1048		11	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490668	0.26686	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.09630	2.96;2.97	5.79	4.86	0.63082	.	0.511109	0.19865	N	0.104339	T	0.10465	0.0256	L	0.51422	1.61	0.24593	N	0.993816	P;B	0.36086	0.536;0.316	B;B	0.32211	0.099;0.142	T	0.18272	-1.0342	10	0.10636	T	0.68	-1.5179	14.651	0.68797	0.0:0.1452:0.8548:0.0	.	350;350	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	N	350	ENSP00000334379:H350N;ENSP00000323339:H350N	ENSP00000289350:H350N	H	-	1	0	C2CD3	73522158	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	3.103000	0.50298	1.393000	0.46605	0.655000	0.94253	CAT	C2CD3	-	NULL	ENSG00000168014		0.393	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding			0	69	0	G	NM_015531		73844510	-1			no_errors	ENST00000334126	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	73844510	G	T	73844510	3	4	12	1	0	0	0	0	1	0	0	0	2161	1290	45	3	4947	3	C2CD3	11	73844510	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	9137278	73844510	61162006	280	3383											
LRRC32	2615	genome.wustl.edu	37	chr11	76371615	76371615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggttcaggaagcacAgggaggtcaggtgctcaaga	11	7	16	7	0	3	2	3	1	0	1	3	4	3	4	0	5	3	4	0	5	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:76371615A>G	ENST00000407242.2	-	3	1264	c.1022T>C	c.(1021-1023)cTg>cCg	p.L341P	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.L341P|LRRC32_ENST00000404995.1_Missense_Mutation_p.L341P|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	341					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGGAAGCACAGGGAGGTCAG	0.567																																																	0													32	33	33					11																	76371615		2200	4292	6492	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1022T>C	11.37:g.76371615A>G	ENSP00000384126:p.Leu341Pro		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L341P	ENST00000407242.2	37	c.1022	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	A	16.29	3.081580	0.55753	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.31247	1.5;1.5;1.5	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000002	T	0.63558	0.2521	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74028	-0.3796	10	0.87932	D	0	.	13.5366	0.61650	1.0:0.0:0.0:0.0	.	341	Q14392	LRC32_HUMAN	P	341	ENSP00000260061:L341P;ENSP00000384126:L341P;ENSP00000385766:L341P	ENSP00000260061:L341P	L	-	2	0	LRRC32	76049263	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	7.109000	0.77062	1.798000	0.52647	0.397000	0.26171	CTG	LRRC32	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137507		0.567	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	85	0	A	NM_005512		76371615	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.999	G	G	76371615	A	G	76371615	3	3	12	1	0	0	0	0	1	0	0	0	9022	188	7	4	970	4	LRRC32	11	76371615	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2527105	76371615	58634901	281	3384											
TYR	7299	genome.wustl.edu	37	chr11	88924562	88924562	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatggataaagctgccaatTtcagctttagaaatacactg	14	11	7	9	0	1	1	1	0	0	1	1	2	1	2	2	1	4	2	2	1	6	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:88924562T>G	ENST00000263321.5	+	2	1514	c.1012T>G	c.(1012-1014)Ttc>Gtc	p.F338V	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	338					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	AGCTGCCAATTTCAGCTTTAG	0.378																																																	0													102	105	104					11																	88924562		2201	4299	6500	SO:0001583	missense	0			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1012T>G	11.37:g.88924562T>G	ENSP00000263321:p.Phe338Val		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.F338V	ENST00000263321.5	37	c.1012	CCDS8284.1	11	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458019	0.43634	.	.	ENSG00000077498	ENST00000263321	D	0.97256	-4.31	5.59	5.59	0.84812	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.299519	0.42964	D	0.000638	D	0.97043	0.9034	M	0.75447	2.3	0.37406	D	0.913042	P	0.47484	0.896	P	0.48368	0.575	D	0.98586	1.0652	9	.	.	.	.	15.7689	0.78149	0.0:0.0:0.0:1.0	.	338	P14679	TYRO_HUMAN	V	338	ENSP00000263321:F338V	.	F	+	1	0	TYR	88564210	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.011000	0.49567	2.134000	0.65973	0.533000	0.62120	TTC	TYR	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000077498		0.378	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	-	0	61	0	T	NM_000372		88924562	1	tier1	-	no_errors	ENST00000263321	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	G	G	88924562	T	G	88924562	3	3	12	1	0	0	0	0	1	0	0	0	16862	1841	64	4	1018	4	TYR	11	88924562	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	12552947	88924562	46081954	282	3385											
NAALAD2	10003	genome.wustl.edu	37	chr11	89880576	89880576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccaaacccagtggaaGaaatttggactagattcagc	17	8	8	8	0	1	2	1	0	0	2	2	4	2	4	2	2	2	0	2	2	6	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:89880576G>T	ENST00000534061.1	+	3	503	c.273G>T	c.(271-273)aaG>aaT	p.K91N	NAALAD2_ENST00000321955.4_Missense_Mutation_p.K91N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.K91N|NAALAD2_ENST00000375944.3_Missense_Mutation_p.K91N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	91					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCAGTGGAAGAAATTTGGAC	0.358																																																	0													84	80	81					11																	89880576		2201	4299	6500	SO:0001583	missense	0			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.273G>T	11.37:g.89880576G>T	ENSP00000432481:p.Lys91Asn		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.K91N	ENST00000534061.1	37	c.273	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822138	0.50739	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.13	2.24	0.28232	.	0.229671	0.37304	N	0.002146	T	0.44159	0.1280	M	0.72894	2.215	0.39569	D	0.969259	P;P;P;P;P	0.43094	0.799;0.505;0.545;0.627;0.681	B;B;B;B;B	0.39617	0.305;0.179;0.213;0.15;0.247	T	0.40156	-0.9578	9	.	.	.	-3.4917	9.9257	0.41492	0.2192:0.0:0.7808:0.0	.	91;91;91;91;91	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	N	91;91;91;91;37	ENSP00000432481:K91N;ENSP00000320083:K91N;ENSP00000435249:K91N;ENSP00000365111:K91N;ENSP00000435670:K37N	.	K	+	3	2	NAALAD2	89520224	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	2.431000	0.44775	0.275000	0.22094	0.644000	0.83932	AAG	NAALAD2	-	NULL	ENSG00000077616		0.358	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0	98	0	G	NM_005467		89880576	1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	T	T	89880576	G	T	89880576	3	4	12	1	0	0	0	0	1	0	0	0	10166	933	33	3	283	3	NAALAD2	11	89880576	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	956014	89880576	45125940	283	3386											
FAT3	120114	genome.wustl.edu	37	chr11	92534684	92534684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggcaccaaactcacacaAgtgagagctattgatatgga	14	9	10	8	0	1	2	1	2	0	1	1	4	1	3	1	2	2	3	1	2	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:92534684A>G	ENST00000298047.6	+	9	8522	c.8505A>G	c.(8503-8505)caA>caG	p.Q2835Q	FAT3_ENST00000409404.2_Silent_p.Q2835Q|FAT3_ENST00000525166.1_Silent_p.Q2685Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2835	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACTCACACAAGTGAGAGCTA	0.443										TCGA Ovarian(4;0.039)																																							0													48	49	49					11																	92534684		1922	4133	6055	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8505A>G	11.37:g.92534684A>G			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q2835	ENST00000298047.6	37	c.8505		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.443	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	47	0	A	NM_001008781		92534684	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	33.33	24	12	SNP	0.983	G	G	92534684	A	G	92534684	2	3	12	1	0	0	0	0	0	0	0	1	5713	69	3	4		4	FAT3	11	92534684	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2654108	92534684	42471832	284	3387											
HEPHL1	341208	genome.wustl.edu	37	chr11	93844876	93844876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacgacctggcaaagagcAgctctatttctttggcaaga	13	9	10	9	1	2	3	0	0	2	3	2	4	2	3	1	2	3	4	1	2	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:93844876A>G	ENST00000315765.9	+	20	3304	c.3296A>G	c.(3295-3297)cAg>cGg	p.Q1099R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1099					copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GGCAAAGAGCAGCTCTATTTC	0.463																																																	0													63	62	62					11																	93844876		1871	4109	5980	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3296A>G	11.37:g.93844876A>G	ENSP00000313699:p.Gln1099Arg		Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.Q1099R	ENST00000315765.9	37	c.3296	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	A	5.805	0.332774	0.11013	.	.	ENSG00000181333	ENST00000315765	D	0.99186	-5.53	5.44	1.83	0.25207	.	.	.	.	.	D	0.94082	0.8103	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.87967	0.2734	9	0.17832	T	0.49	-17.7128	1.0631	0.01604	0.5243:0.1467:0.166:0.163	.	1099	Q6MZM0	HPHL1_HUMAN	R	1099	ENSP00000313699:Q1099R	ENSP00000313699:Q1099R	Q	+	2	0	HEPHL1	93484524	0.002000	0.14202	0.147000	0.22382	0.452000	0.32318	1.247000	0.32815	0.338000	0.23692	0.533000	0.62120	CAG	HEPHL1	-	NULL	ENSG00000181333		0.463	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2		0	51	0	A	XM_291947		93844876	1			no_errors	ENST00000315765	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.014	G	G	93844876	A	G	93844876	3	3	12	1	0	0	0	0	1	0	0	0	7082	188	7	4	3374	4	HEPHL1	11	93844876	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1310192	93844876	41161640	285	3388											
DDI1	414301	genome.wustl.edu	37	chr11	103908222	103908222	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccggcagcaaaacattgaAgaaaacatgaatatagcgat	19	7	8	7	2	0	3	0	2	0	1	1	4	1	3	1	1	4	2	1	1	8	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:103908222A>T	ENST00000302259.3	+	1	915	c.672A>T	c.(670-672)gaA>gaT	p.E224D	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	224							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AAAACATTGAAGAAAACATGA	0.478																																																	0													105	118	113					11																	103908222		2202	4299	6501	SO:0001583	missense	0				CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.672A>T	11.37:g.103908222A>T	ENSP00000302805:p.Glu224Asp		Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.E224D	ENST00000302259.3	37	c.672	CCDS31660.1	11	.	.	.	.	.	.	.	.	.	.	A	16.40	3.112073	0.56398	.	.	ENSG00000170967	ENST00000302259	T	0.43688	0.94	5.02	2.97	0.34412	Peptidase aspartic, eukaryotic predicted (1);	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	N	0.11927	0.2	0.40256	D	0.978128	D	0.89917	1.0	D	0.91635	0.999	T	0.32214	-0.9915	10	0.14656	T	0.56	-29.9827	4.6124	0.12409	0.4823:0.0:0.5177:0.0	.	224	Q8WTU0	DDI1_HUMAN	D	224	ENSP00000302805:E224D	ENSP00000302805:E224D	E	+	3	2	DDI1	103413432	1.000000	0.71417	0.999000	0.59377	0.694000	0.40290	1.505000	0.35736	0.645000	0.30675	0.533000	0.62120	GAA	DDI1	-	pfam_Peptidase_aspartic_DDI1-type	ENSG00000170967		0.478	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI1	HGNC	protein_coding	OTTHUMT00000387326.1	-	0	37	0	A	NM_001001711		103908222	1	tier1	-	no_errors	ENST00000302259	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	T	T	103908222	A	T	103908222	3	4	12	1	0	0	0	0	1	0	0	0	4337	69	3	5	674	5	DDI1	11	103908222	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	10063346	103908222	31098294	286	3389											
SLC35F2	54733	genome.wustl.edu	37	chr11	107673781	107673781	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtagaggtccgctgtcagGatgcccaggttgacggaagt	8	9	15	9	2	1	2	1	1	0	1	2	4	2	4	2	4	1	3	2	4	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:107673781G>T	ENST00000525815.1	-	7	1305	c.885C>A	c.(883-885)atC>atA	p.I295I	SLC35F2_ENST00000429869.1_Silent_p.I295I|SLC35F2_ENST00000525071.1_Silent_p.I295I|SLC35F2_ENST00000265836.7_Silent_p.I147I|SLC35F2_ENST00000375682.4_Silent_p.I248I	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	295					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CCGCTGTCAGGATGCCCAGGT	0.453																																																	0													91	88	89					11																	107673781		1984	4172	6156	SO:0001819	synonymous_variant	0				CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.885C>A	11.37:g.107673781G>T			Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Silent	SNP	pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom	p.I295	ENST00000525815.1	37	c.885	CCDS41709.1	11																																																																																			SLC35F2	-	pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom	ENSG00000110660		0.453	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F2	HGNC	protein_coding	OTTHUMT00000389417.1		0	85	0	G	NM_017515		107673781	-1			no_errors	ENST00000429869	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	107673781	G	T	107673781	2	4	12	1	0	0	0	0	0	0	0	1	14634	1164	41	3		3	SLC35F2	11	107673781	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	3765559	107673781	27332735	287	3390											
C2CD2L	9854	genome.wustl.edu	37	chr11	118982311	118982311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccgcgagggctggatccGaggtggagtggacagaagac	10	4	18	9	3	0	2	0	0	0	2	1	7	1	5	2	5	1	1	2	5	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:118982311G>A	ENST00000528586.1	+	3	305	c.235G>A	c.(235-237)Gag>Aag	p.E79K	C2CD2L_ENST00000336702.3_Missense_Mutation_p.E331K			O14523	C2C2L_HUMAN	C2CD2-like	331						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGCTGGATCCGAGGTGGAGTG	0.572																																																	0													59	55	57					11																	118982311		2200	4295	6495	SO:0001583	missense	0			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"transmembrane protein 24"	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.235G>A	11.37:g.118982311G>A	ENSP00000433600:p.Glu79Lys		Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	superfamily_C2_dom	p.E331K	ENST00000528586.1	37	c.991		11	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700654	0.68501	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.39787	1.06;1.06	5.54	5.54	0.83059	C2 calcium/lipid-binding domain, CaLB (1);	0.535950	0.20847	N	0.084583	T	0.36991	0.0987	L	0.27053	0.805	0.34816	D	0.738224	D;D	0.65815	0.995;0.995	P;P	0.45449	0.481;0.481	T	0.48536	-0.9027	10	0.42905	T	0.14	-32.0913	16.6359	0.85059	0.0:0.0:1.0:0.0	.	331;331	O14523;O14523-2	C2C2L_HUMAN;.	K	331;79	ENSP00000338885:E331K;ENSP00000433600:E79K	ENSP00000338885:E331K	E	+	1	0	C2CD2L	118487521	0.994000	0.37717	0.955000	0.39395	0.712000	0.41017	2.538000	0.45710	2.606000	0.88127	0.655000	0.94253	GAG	C2CD2L	-	superfamily_C2_dom	ENSG00000172375		0.572	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2		0	14	0	G	NM_014807		118982311	1			no_errors	ENST00000336702	ensembl	human	known	74_37	missense	28.57	5	2	SNP	0.954	A	A	118982311	G	A	118982311	3	1	12	1	0	0	0	0	1	0	0	0	2160	1059	37	1	1017	1	C2CD2L	11	118982311	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	11308530	118982311	16024205	288	3391											
UBASH3B	84959	genome.wustl.edu	37	chr11	122650316	122650316	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctctatacgtcgtccaacTtcatcggcctctttgtaaag	9	13	7	12	3	3	0	1	0	2	0	6	0	4	0	2	1	3	2	2	1	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:122650316T>G	ENST00000284273.5	+	4	889	c.514T>G	c.(514-516)Ttc>Gtc	p.F172V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	172					negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTCGTCCAACTTCATCGGCCT	0.567																																																	0													98	94	95					11																	122650316		2202	4299	6501	SO:0001583	missense	0			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.514T>G	11.37:g.122650316T>G	ENSP00000284273:p.Phe172Val		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.F172V	ENST00000284273.5	37	c.514	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885780	0.72410	.	.	ENSG00000154127	ENST00000284273	T	0.30182	1.54	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	M	0.72118	2.19	0.58432	D	0.999999	B	0.34241	0.444	B	0.38880	0.284	T	0.41822	-0.9487	10	0.87932	D	0	-2.9795	15.0349	0.71738	0.0:0.0:0.0:1.0	.	172	Q8TF42	UBS3B_HUMAN	V	172	ENSP00000284273:F172V	ENSP00000284273:F172V	F	+	1	0	UBASH3B	122155526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.232000	0.72313	1.947000	0.56498	0.528000	0.53228	TTC	UBASH3B	-	superfamily_RNA_ligase/cNuc_Pdiesterase	ENSG00000154127		0.567	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	-	0	40	0	T	NM_032873		122650316	1	tier1	-	no_errors	ENST00000284273	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	G	G	122650316	T	G	122650316	3	3	12	1	0	0	0	0	1	0	0	0	16889	1609	56	4	528	4	UBASH3B	11	122650316	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	3668005	122650316	12356200	289	3392											
OPCML	4978	genome.wustl.edu	37	chr11	132290138	132290138	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccctgatagccagagacaAgccagtgctctggaggccga	10	6	13	12	1	1	2	0	1	1	1	2	5	2	3	4	2	3	1	4	2	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr11:132290138A>T	ENST00000331898.7	-	7	1565	c.987T>A	c.(985-987)gcT>gcA	p.A329A	OPCML_ENST00000374778.4_Silent_p.A288A|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.A338A|OPCML_ENST00000524381.1_Silent_p.A322A	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	329					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCCAGAGACAAGCCAGTGCTC	0.512																																																	0													133	110	118					11																	132290138		2201	4297	6498	SO:0001819	synonymous_variant	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.987T>A	11.37:g.132290138A>T			B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A338	ENST00000331898.7	37	c.1014	CCDS8492.1	11																																																																																			OPCML	-	NULL	ENSG00000183715		0.512	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	-	0	43	0	A	NM_001012393		132290138	-1	tier1	-	no_errors	ENST00000541867	ensembl	human	known	74_37	silent	33.33	16	8	SNP	0.986	T	T	132290138	A	T	132290138	2	4	12	1	0	0	0	0	0	0	0	1	10913	59	3	5		5	OPCML	11	132290138	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	9639822	132290138	2716378	290	3393											
FGF23	8074	genome.wustl.edu	37	chr12	4479908	4479908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtcgtacccgttttccagCgtctggtgttggaacctgca	6	12	11	12	4	1	0	0	0	1	0	3	1	2	1	3	2	4	4	3	2	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:4479908C>T	ENST00000237837.1	-	3	502	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	119					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTTTCCAGCGTCTGGTGTT	0.607																																																	0													103	100	101					12																	4479908		2203	4300	6503	SO:0001819	synonymous_variant	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.357G>A	12.37:g.4479908C>T			Q4V758	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.T119	ENST00000237837.1	37	c.357	CCDS8526.1	12																																																																																			FGF23	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000118972		0.607	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1		0	38	0	C			4479908	-1			no_errors	ENST00000237837	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.014	T	T	4479908	C	T	4479908	2	4	12	1	0	0	0	0	0	0	0	1	5874	755	27	1		1	FGF23	12	4479908	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		4479908	129371987	291	3394											
ACSM4	341392	genome.wustl.edu	37	chr12	7459218	7459218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagaactgggctccttGtcccgaaaagctgccaacgt	10	9	10	12	2	1	1	1	0	0	1	3	3	3	1	3	1	4	2	3	1	4	2	rs373040986		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:7459218G>T	ENST00000399422.4	+	2	339	c.291G>T	c.(289-291)ttG>ttT	p.L97F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	97					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TGGGCTCCTTGTCCCGAAAAG	0.582																																																	0													71	81	78					12																	7459218		2097	4250	6347	SO:0001583	missense	0				CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"Acyl-CoA synthetase family"	32016	protein-coding gene	gene with protein product	"similar to olfactory specific medium-chain acyl CoA synthetase"	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.291G>T	12.37:g.7459218G>T	ENSP00000382349:p.Leu97Phe		A8MTI6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.L97F	ENST00000399422.4	37	c.291	CCDS44825.1	12	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613008	0.28712	.	.	ENSG00000215009	ENST00000399422	T	0.42131	0.98	4.89	1.47	0.22746	AMP-dependent synthetase/ligase (1);	0.261640	0.19284	N	0.118090	T	0.29652	0.0740	L	0.49455	1.56	0.35112	D	0.766221	B	0.22080	0.064	B	0.32724	0.151	T	0.14062	-1.0486	10	0.11485	T	0.65	-9.3803	0.7292	0.00954	0.2401:0.1837:0.3871:0.1891	.	97	P0C7M7	ACSM4_HUMAN	F	97	ENSP00000382349:L97F	ENSP00000382349:L97F	L	+	3	2	ACSM4	7350485	0.803000	0.28956	0.988000	0.46212	0.686000	0.39977	0.045000	0.14013	0.579000	0.29504	0.655000	0.94253	TTG	ACSM4	-	pfam_AMP-dep_Synth/Lig	ENSG00000215009		0.582	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ACSM4	HGNC	protein_coding	OTTHUMT00000337866.2	-	0	65	0	G	NM_001080454		7459218	1	tier1	-	no_errors	ENST00000399422	ensembl	human	novel	74_37	missense	5.56	68	4	SNP	0.984	T	T	7459218	G	T	7459218	3	4	12	1	0	0	0	0	1	0	0	0	186	1368	48	3	297	3	ACSM4	12	7459218	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	2979310	7459218	126392677	292	3395											
CD163L1	283316	genome.wustl.edu	37	chr12	7528130	7528130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccccagtgtccaagcacGttgatctccacttgcccgtc	7	9	9	16	2	1	1	0	1	1	0	4	2	2	1	5	0	3	2	5	0	1	2	rs183250040		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:7528130G>T	ENST00000313599.3	-	11	2805	c.2748C>A	c.(2746-2748)aaC>aaA	p.N916K	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.N926K|CD163L1_ENST00000396630.1_Missense_Mutation_p.N916K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	916	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.N916N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GTCCAAGCACGTTGATCTCCA	0.527																																																	1	Substitution - coding silent(1)	urinary_tract(1)											70	61	64					12																	7528130		2203	4300	6503	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2748C>A	12.37:g.7528130G>T	ENSP00000315945:p.Asn916Lys		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.N916K	ENST00000313599.3	37	c.2748	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.918866	0.00498	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.26957	1.7;1.7;1.7	2.66	-3.39	0.04868	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.711930	0.11795	N	0.528708	T	0.08802	0.0218	N	0.11560	0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24693	-1.0153	10	0.27785	T	0.31	.	0.1789	0.00121	0.3416:0.2427:0.1718:0.2439	.	926;916	E7EVK4;Q9NR16	.;C163B_HUMAN	K	916;926;916	ENSP00000315945:N916K;ENSP00000393474:N926K;ENSP00000379871:N916K	ENSP00000315945:N916K	N	-	3	2	CD163L1	7419397	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-3.968000	0.00323	-0.911000	0.03843	-0.397000	0.06425	AAC	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177675		0.527	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1		0	62	0	G	NM_174941		7528130	-1			no_errors	ENST00000313599	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.000	T	T	7528130	G	T	7528130	3	4	12	1	0	0	0	0	1	0	0	0	2975	1136	40	2	1649	2	CD163L1	12	7528130	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	68912	7528130	126323765	293	3396											
CLEC7A	64581	genome.wustl.edu	37	chr12	10280446	10280446	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgcagcacacgatccTgaggagccagagggggcaga	12	3	17	9	1	0	4	0	1	0	3	1	7	1	5	2	4	3	3	2	4	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:10280446T>A	ENST00000304084.8	-	2	258		c.e2-2		CLEC7A_ENST00000298523.5_Splice_Site|CLEC7A_ENST00000525605.1_Splice_Site|CLEC7A_ENST00000533022.1_Splice_Site|CLEC7A_ENST00000353231.5_Splice_Site|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000310002.4_Splice_Site	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A						carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CACACGATCCTGAGGAGCCAG	0.493																																																	0													29	24	26					12																	10280446		2201	4292	6493	SO:0001630	splice_region_variant	0			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.104-2A>T	12.37:g.10280446T>A			B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Splice_Site	SNP	-	e2-2	ENST00000304084.8	37	c.104-2	CCDS41753.1	12	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466493	0.26335	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000304084;ENST00000533022;ENST00000310002;ENST00000525605	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7703	0.40585	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLEC7A	10171713	0.627000	0.27129	0.183000	0.23137	0.063000	0.16089	3.492000	0.53259	2.070000	0.61991	0.482000	0.46254	.	CLEC7A	-	-	ENSG00000172243		0.493	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC7A	HGNC	protein_coding	OTTHUMT00000390772.1	-	0	31	0	T	NM_197954	Intron	10280446	-1	tier1	-	no_errors	ENST00000304084	ensembl	human	known	74_37	splice_site	45.83	13	11	SNP	0.222	A	A	10280446	T	A	10280446	5	1	12	1	0	0	0	0	0	0	1	0	3528	1594	55	5	697	5	CLEC7A	12	10280446	Splice_Site	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2752316	10280446	123571449	294	3397											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21011399	21011399	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttgtgattgtatttgtaAgttactttggatctaaacta	10	19	8	4	0	1	1	0	1	1	0	1	2	1	2	0	1	3	4	0	1	6	9			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:21011399A>C	ENST00000381545.3	+	5	472	c.253A>C	c.(253-255)Agt>Cgt	p.S85R	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S85R|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000540229.1_Missense_Mutation_p.S85R|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S85R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S85R|LST3_ENST00000381541.3_Missense_Mutation_p.S85R	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	85					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGTATTTGTAAGTTACTTTGG	0.318																																																	0													157	140	146					12																	21011399		2202	4299	6501	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.253A>C	12.37:g.21011399A>C	ENSP00000370956:p.Ser85Arg		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S85R	ENST00000381545.3	37	c.253	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080314	0.76528	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.58;0.26;0.58	3.99	3.99	0.46301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81380	0.4810	H	0.94964	3.605	0.51482	D	0.999925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.86571	0.1847	10	0.87932	D	0	.	13.189	0.59700	1.0:0.0:0.0:0.0	.	85;85;85	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	R	85	ENSP00000442000:S85R;ENSP00000261196:S85R;ENSP00000370956:S85R;ENSP00000451758:S85R;ENSP00000370952:S85R;ENSP00000441269:S85R;ENSP00000452013:S85R	ENSP00000370952:S85R	S	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20902666	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.810000	0.91950	1.569000	0.49696	0.377000	0.23210	AGT	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	108	0	A	NM_019844		21011399	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	37.61	68	41	SNP	1.000	C	C	21011399	A	C	21011399	3	2	12	1	0	0	0	0	1	0	0	0	14769	72	3	4	263	4	SLCO1B3	12	21011399	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	10730953	21011399	112840496	295	3398											
LST-3TM12	338821	genome.wustl.edu	37	chr12	21172304	21172304	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggctttaccacatttcTtcatgggatagtaagtgtta	10	16	9	6	0	2	1	1	1	1	0	2	2	2	2	1	2	1	3	1	2	4	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:21172304T>G	ENST00000421593.2	+	2	208	c.208T>G	c.(208-210)Ttc>Gtc	p.F70V	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACCACATTTCTTCATGGGATA	0.318																																																	0													138	135	136					12																	21172304		2203	4300	6503	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.208T>G	12.37:g.21172304T>G	ENSP00000394168:p.Phe70Val		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F70V	ENST00000421593.2	37	c.208	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	19.05	3.752787	0.69648	.	.	ENSG00000205754	ENST00000421593	T	0.38722	1.12	3.31	3.31	0.37934	.	0.097844	0.64402	D	0.000001	T	0.57051	0.2027	M	0.68593	2.085	0.80722	D	1	D	0.54047	0.964	P	0.61201	0.885	T	0.61367	-0.7077	10	0.66056	D	0.02	.	11.8252	0.52263	0.0:0.0:0.0:1.0	.	70	G3V0H7	.	V	70	ENSP00000394168:F70V	ENSP00000394168:F70V	F	+	1	0	SLCO1B7	21063571	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.398000	0.34554	1.358000	0.45922	0.413000	0.27773	TTC	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.318	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	-	0	118	0	T	NM_001009562		21172304	1	tier1	-	no_errors	ENST00000421593	ensembl	human	known	74_37	missense	21.93	89	25	SNP	1.000	G	G	21172304	T	G	21172304	3	3	12	1	0	0	0	0	1	0	0	0	9101	1609	56	4	214	4	LST-3TM12	12	21172304	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	160905	21172304	112679591	296	3399											
ABCD2	225	genome.wustl.edu	37	chr12	39994435	39994435	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggactccttcatacacaggCcagagcccacttagaattct	12	9	7	13	0	2	2	1	0	1	2	3	3	3	3	3	2	2	0	3	2	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:39994435C>T	ENST00000308666.3	-	6	1719	c.1584G>A	c.(1582-1584)tgG>tgA	p.W528*		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	528	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CATACACAGGCCAGAGCCCAC	0.358																																																	0													86	95	92					12																	39994435		2203	4300	6503	SO:0001587	stop_gained	0			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1584G>A	12.37:g.39994435C>T	ENSP00000310688:p.Trp528*		B2RAM3|Q13210|Q2M3H9	Nonsense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.W528*	ENST00000308666.3	37	c.1584	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.289552	0.98745	.	.	ENSG00000173208	ENST00000308666	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.8568	19.712	0.96099	0.0:1.0:0.0:0.0	.	.	.	.	X	528	.	.	W	-	3	0	ABCD2	38280702	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.732000	0.84908	2.656000	0.90262	0.460000	0.39030	TGG	ABCD2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000173208		0.358	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	-	0	94	0	C	NM_005164		39994435	-1	tier1	-	no_errors	ENST00000308666	ensembl	human	known	74_37	nonsense	12.79	75	11	SNP	1.000	T	T	39994435	C	T	39994435	4	4	12	1	0	0	0	0	0	1	0	0	61	740	26	3	658	3	ABCD2	12	39994435	Nonsense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	18822131	39994435	93857460	297	3400											
LRRK2	120892	genome.wustl.edu	37	chr12	40672053	40672053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaaaggagggatcttcttTaatttgtcaggtaaatattc	13	14	9	5	0	3	0	1	0	2	0	4	2	3	2	0	3	1	2	0	3	5	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:40672053T>C	ENST00000298910.7	+	18	2289	c.2231T>C	c.(2230-2232)tTa>tCa	p.L744S	LRRK2_ENST00000343742.2_Missense_Mutation_p.L744S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	744					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGATCTTCTTTAATTTGTCAG	0.393																																																	0													125	127	126					12																	40672053		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2231T>C	12.37:g.40672053T>C	ENSP00000298910:p.Leu744Ser		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.L744S	ENST00000298910.7	37	c.2231	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637917	0.67130	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.50813	0.73;1.28;1.28	5.94	5.94	0.96194	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000002	T	0.60470	0.2271	L	0.36672	1.1	0.46701	D	0.999164	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.60551	-0.7241	10	0.49607	T	0.09	.	16.3945	0.83586	0.0:0.0:0.0:1.0	.	744;744	E9PC85;Q5S007	.;LRRK2_HUMAN	S	492;744;744	ENSP00000398726:L492S;ENSP00000341930:L744S;ENSP00000298910:L744S	ENSP00000298910:L744S	L	+	2	0	LRRK2	38958320	1.000000	0.71417	0.999000	0.59377	0.595000	0.36748	6.081000	0.71309	2.265000	0.75225	0.482000	0.46254	TTA	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	22	0	T	XM_058513		40672053	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	C	C	40672053	T	C	40672053	3	2	12	1	0	0	0	0	1	0	0	0	9068	1764	61	4	2301	4	LRRK2	12	40672053	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	677618	40672053	93179842	298	3401											
CNTN1	1272	genome.wustl.edu	37	chr12	41327548	41327548	+	Frame_Shift_Del	DEL	A	A	-																															ttctagaaccaatgccaagcActgctgagattagcacctct																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:41327548delA	ENST00000551295.2	+	9	970	c.853delA	c.(853-855)actfs	p.T285fs	CNTN1_ENST00000347616.1_Frame_Shift_Del_p.T285fs|CNTN1_ENST00000348761.2_Frame_Shift_Del_p.T274fs|CNTN1_ENST00000547849.1_Frame_Shift_Del_p.T285fs|CNTN1_ENST00000547702.1_Frame_Shift_Del_p.T285fs|CNTN1_ENST00000360099.3_Frame_Shift_Del_p.T285fs	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	285	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATGCCAAGCACTGCTGAGAT	0.408																																																	0													98	98	98					12																	41327548		2203	4299	6502	SO:0001589	frameshift_variant	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.853delA	12.37:g.41327548delA	ENSP00000447006:p.Thr285fs		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T285fs	ENST00000551295.2	37	c.853	CCDS8737.1	12																																																																																			CNTN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000018236		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2		0	39	0	A	NM_001843		41327548	1	tier1		no_errors	ENST00000347616	ensembl	human	known	74_37	frame_shift_del	14.29	36	6	DEL	0.993	-	-	41327548	A	-	41327548	7	5	12	1	0	1	0	1	0	0	0	0	3647	159	6	0	883	0	CNTN1	12	41327548	Frame_Shift_Del	DEL	A	TCGA-2H-A9GR-01A-12D-A37C-09	655495	41327548	92524347	299	3402											
KRT1	3848	genome.wustl.edu	37	chr12	53069104	53069104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagctcccgccgccagagCcccggccgccagagctgccg	6	2	13	20	5	0	3	0	0	0	3	1	3	1	3	8	1	4	2	8	1	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:53069104C>T	ENST00000252244.3	-	9	1866	c.1808G>A	c.(1807-1809)gGc>gAc	p.G603D		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	603	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GCCGCCAGAGCCCCGgccgcc	0.697																																																	0													15	22	20					12																	53069104		2101	4115	6216	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1808G>A	12.37:g.53069104C>T	ENSP00000252244:p.Gly603Asp		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G603D	ENST00000252244.3	37	c.1808	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369497	0.24771	.	.	ENSG00000167768	ENST00000252244	D	0.95171	-3.63	3.57	1.55	0.23275	.	.	.	.	.	D	0.82861	0.5129	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.70174	-0.4944	9	0.06494	T	0.89	.	5.2762	0.15651	0.2226:0.6652:0.0:0.1123	.	603	P04264	K2C1_HUMAN	D	603	ENSP00000252244:G603D	ENSP00000252244:G603D	G	-	2	0	KRT1	51355371	0.000000	0.05858	0.008000	0.14137	0.440000	0.31957	0.506000	0.22658	0.551000	0.29008	0.313000	0.20887	GGC	KRT1	-	NULL	ENSG00000167768		0.697	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	-	0	48	0	C	NM_006121		53069104	-1	tier1	-	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.008	T	T	53069104	C	T	53069104	3	4	12	1	0	0	0	0	1	0	0	0	8474	739	26	3	130	3	KRT1	12	53069104	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	11741556	53069104	80782791	300	3403											
LACRT	90070	genome.wustl.edu	37	chr12	55026095	55026095	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgccgccgaagtctcCtgggctgttgtggttgtctc	3	13	13	12	2	2	0	0	0	2	0	4	1	2	0	3	2	2	4	3	2	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:55026095C>T	ENST00000257867.4	-	3	236	c.183G>A	c.(181-183)caG>caA	p.Q61Q	LACRT_ENST00000547511.1_Silent_p.Q61Q	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	61					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCGAAGTCTCCTGGGCTGTTG	0.517																																																	0													155	147	150					12																	55026095		2203	4300	6503	SO:0001819	synonymous_variant	0			AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.183G>A	12.37:g.55026095C>T				Silent	SNP	NULL	p.Q61	ENST00000257867.4	37	c.183	CCDS8883.1	12																																																																																			LACRT	-	NULL	ENSG00000135413		0.517	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACRT	HGNC	protein_coding	OTTHUMT00000406615.1	-	0	109	0	C	NM_033277		55026095	-1	tier1	-	no_errors	ENST00000257867	ensembl	human	known	74_37	silent	18.75	91	21	SNP	0.000	T	T	55026095	C	T	55026095	2	4	12	1	0	0	0	0	0	0	0	1	8624	680	24	3		3	LACRT	12	55026095	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1956991	55026095	78825800	301	3404											
KIAA0748	9840	genome.wustl.edu	37	chr12	55360978	55360978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacttaccctccgctcccAgggtcaagtcatcttcaaag	9	9	7	16	1	4	0	3	0	1	0	6	0	6	0	4	1	1	1	4	1	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:55360978A>G	ENST00000449076.1	-	5	431	c.299T>C	c.(298-300)cTg>cCg	p.L100P	TESPA1_ENST00000316577.8_Missense_Mutation_p.L100P|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524622.1_5'UTR	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	100					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CTCCGCTCCCAGGGTCAAGTC	0.468																																																	0													71	70	70					12																	55360978		1952	4141	6093	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.299T>C	12.37:g.55360978A>G	ENSP00000400892:p.Leu100Pro		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.L100P	ENST00000449076.1	37	c.299	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777149	0.70107	.	.	ENSG00000135426	ENST00000449076;ENST00000316577	T;T	0.73789	-0.78;-0.78	4.94	4.94	0.65067	.	.	.	.	.	D	0.82953	0.5149	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84765	0.0764	9	0.87932	D	0	.	12.8634	0.57926	1.0:0.0:0.0:0.0	.	100	A2RU30	K0748_HUMAN	P	100	ENSP00000400892:L100P;ENSP00000312679:L100P	ENSP00000312679:L100P	L	-	2	0	KIAA0748	53647245	1.000000	0.71417	0.656000	0.29637	0.892000	0.51952	7.133000	0.77259	1.993000	0.58246	0.528000	0.53228	CTG	TESPA1	-	NULL	ENSG00000135426		0.468	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1		0	41	0	A	NM_001098815		55360978	-1			no_errors	ENST00000316577	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.940	G	G	55360978	A	G	55360978	3	3	12	1	0	0	0	0	1	0	0	0	8217	188	7	4	1290	4	KIAA0748	12	55360978	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	334883	55360978	78490917	302	3405											
STAT2	6773	genome.wustl.edu	37	chr12	56744894	56744894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgccaaccttgttcggacgGtgaacttgctgccagtcttg	7	12	11	11	2	1	1	0	1	1	0	2	2	1	2	3	2	5	2	3	2	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:56744894G>A	ENST00000314128.4	-	10	1045	c.1022C>T	c.(1021-1023)aCc>aTc	p.T341I	STAT2_ENST00000418572.2_Missense_Mutation_p.T337I|STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000557235.1_Missense_Mutation_p.T337I|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	341					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGTTCGGACGGTGAACTTGCT	0.532																																																	0													120	114	116					12																	56744894		2203	4300	6503	SO:0001583	missense	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1022C>T	12.37:g.56744894G>A	ENSP00000315768:p.Thr341Ile		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.T341I	ENST00000314128.4	37	c.1022	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543204	0.65198	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000418572	D;D;D	0.88896	-2.44;-2.44;-2.44	4.4	2.53	0.30540	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.276731	0.35615	N	0.003094	D	0.92344	0.7571	M	0.83312	2.635	0.38164	D	0.939122	P;D;D	0.56521	0.952;0.976;0.97	P;P;P	0.59056	0.603;0.851;0.743	D	0.92224	0.5787	10	0.87932	D	0	-2.6381	8.7051	0.34349	0.088:0.1633:0.7487:0.0	.	337;337;341	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	I	341;337;337	ENSP00000315768:T341I;ENSP00000450751:T337I;ENSP00000387354:T337I	ENSP00000315768:T341I	T	-	2	0	STAT2	55031161	1.000000	0.71417	0.636000	0.29352	0.901000	0.52897	5.146000	0.64845	0.603000	0.29913	0.467000	0.42956	ACC	STAT2	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000170581		0.532	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1		0	52	0	G	NM_005419		56744894	-1			no_errors	ENST00000314128	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.995	A	A	56744894	G	A	56744894	3	1	12	1	0	0	0	0	1	0	0	0	15312	1261	44	3	1593	3	STAT2	12	56744894	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1383916	56744894	77107001	303	3406											
NACA	4666	genome.wustl.edu	37	chr12	57113631	57113631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggggctgcctggactaaCggtaatacagtagggtcttt	9	12	13	7	1	1	0	0	0	1	0	1	1	1	1	1	5	3	3	1	5	5	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:57113631C>T	ENST00000454682.1	-	3	1964	c.1683G>A	c.(1681-1683)ccG>ccA	p.P561P	NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Silent_p.P561P|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	561	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCTGGACTAACGGTAATACAG	0.493			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													70	72	71					12																	57113631		1568	3582	5150	SO:0001819	synonymous_variant	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1683G>A	12.37:g.57113631C>T				Silent	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.P561	ENST00000454682.1	37	c.1683		12																																																																																			NACA	-	NULL	ENSG00000196531		0.493	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0	67	0	C	NM_005594		57113631	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	silent	31.25	33	15	SNP	0.000	T	T	57113631	C	T	57113631	2	4	12	1	0	0	0	0	0	0	0	1	10171	523	19	1		1	NACA	12	57113631	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	368737	57113631	76738264	304	3407											
LRP1	4035	genome.wustl.edu	37	chr12	57587708	57587708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtgtgggcgagttcCgctgccgggacgggacctgc	3	8	18	12	4	0	0	0	0	0	0	1	3	1	2	4	4	2	2	4	4	0	1	rs377122314		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:57587708C>T	ENST00000243077.3	+	48	8297	c.7831C>T	c.(7831-7833)Cgc>Tgc	p.R2611C	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2611	LDL-receptor class A 13. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCGAGTTCCGCTGCCGGGA	0.612																																																	0								C	CYS/ARG	0,4406		0,0,2203	97	88	91		7831	4.2	1	12		91	1,8599		0,1,4299	no	missense	LRP1	NM_002332.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2611/4545	57587708	1,13005	2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7831C>T	12.37:g.57587708C>T	ENSP00000243077:p.Arg2611Cys		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R2611C	ENST00000243077.3	37	c.7831	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287267	0.59867	0.0	1.16E-4	ENSG00000123384	ENST00000243077	D	0.96334	-3.98	5.09	4.2	0.49525	.	0.088458	0.49916	D	0.000140	D	0.97303	0.9118	M	0.80332	2.49	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	D	0.97483	1.0048	10	0.72032	D	0.01	.	12.833	0.57756	0.0:0.9199:0.0:0.0801	.	2611	Q07954	LRP1_HUMAN	C	2611	ENSP00000243077:R2611C	ENSP00000243077:R2611C	R	+	1	0	LRP1	55873975	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	4.597000	0.61062	1.379000	0.46325	0.650000	0.86243	CGC	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0	83	0	C	NM_002332		57587708	1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	11.96	81	11	SNP	1.000	T	T	57587708	C	T	57587708	3	4	12	1	0	0	0	0	1	0	0	0	8986	652	23	1	8021	1	LRP1	12	57587708	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	474077	57587708	76264187	305	3408											
RAB21	23011	genome.wustl.edu	37	chr12	72164387	72164387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaggatacggcaggtcaaGagagattccatgcattgggt	11	11	13	6	1	1	2	1	0	0	2	2	4	2	3	1	4	2	2	1	4	3	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:72164387G>C	ENST00000261263.3	+	3	491	c.235G>C	c.(235-237)Gag>Cag	p.E79Q		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	79					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)	6						GGCAGGTCAAGAGAGATTCCA	0.343																																																	0													72	76	75					12																	72164387		2203	4300	6503	SO:0001583	missense	0			AF091035	CCDS9003.1	12q21.1	2014-09-04			ENSG00000080371	ENSG00000080371		"RAB, member RAS oncogene"	18263	protein-coding gene	gene with protein product		612398				10887961, 11697911, 16754960	Standard	NM_014999		Approved	KIAA0118	uc001swt.3	Q9UL25	OTTHUMG00000169572	ENST00000261263.3:c.235G>C	12.37:g.72164387G>C	ENSP00000261263:p.Glu79Gln		Q14466|Q569H3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E79Q	ENST00000261263.3	37	c.235	CCDS9003.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.177719	0.94846	.	.	ENSG00000080371	ENST00000261263	D	0.83914	-1.78	5.93	5.93	0.95920	Small GTP-binding protein domain (1);	0.093593	0.64402	D	0.000001	D	0.93983	0.8073	H	0.95950	3.745	0.80722	D	1	D	0.55800	0.973	P	0.62014	0.897	D	0.95048	0.8184	10	0.87932	D	0	-11.1732	19.949	0.97192	0.0:0.0:1.0:0.0	.	79	Q9UL25	RAB21_HUMAN	Q	79	ENSP00000261263:E79Q	ENSP00000261263:E79Q	E	+	1	0	RAB21	70450654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.184000	0.94893	2.826000	0.97356	0.655000	0.94253	GAG	RAB21	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000080371		0.343	RAB21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB21	HGNC	protein_coding	OTTHUMT00000404855.1	-	0	35	0	G			72164387	1	tier1	-	no_errors	ENST00000261263	ensembl	human	known	74_37	missense	28.00	17	7	SNP	1.000	C	C	72164387	G	C	72164387	3	2	12	1	0	0	0	0	1	0	0	0	12953	943	33	5	245	5	RAB21	12	72164387	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	14576679	72164387	61687508	306	3409											
TRHDE	29953	genome.wustl.edu	37	chr12	72680620	72680620	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacttccgtgtttgaggaAgatggatgggttacggatca	11	11	14	5	2	1	2	1	1	0	1	2	6	2	5	1	4	2	2	1	4	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:72680620A>C	ENST00000261180.4	+	2	1035	c.939A>C	c.(937-939)gaA>gaC	p.E313D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	313					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTTTGAGGAAGATGGATGGG	0.408																																																	0													167	157	160					12																	72680620		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.939A>C	12.37:g.72680620A>C	ENSP00000261180:p.Glu313Asp		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E313D	ENST00000261180.4	37	c.939	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	A	19.33	3.807773	0.70797	.	.	ENSG00000072657	ENST00000261180	T	0.03689	3.84	6.17	6.17	0.99709	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.099655	0.64402	D	0.000002	T	0.03739	0.0106	N	0.26162	0.8	0.54753	D	0.999982	P	0.34934	0.476	B	0.33196	0.159	T	0.58211	-0.7676	10	0.13470	T	0.59	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	313	Q9UKU6	TRHDE_HUMAN	D	313	ENSP00000261180:E313D	ENSP00000261180:E313D	E	+	3	2	TRHDE	70966887	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.376000	0.66178	2.371000	0.80710	0.533000	0.62120	GAA	TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.408	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	32	0	A	NM_013381		72680620	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	C	C	72680620	A	C	72680620	3	2	12	1	0	0	0	0	1	0	0	0	16527	69	3	4	945	4	TRHDE	12	72680620	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	516233	72680620	61171275	307	3410											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85459153	85459153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggattaacttctttgcacagCctgagtaattgtaaaaaact	14	13	7	7	0	1	1	0	1	1	0	1	2	1	2	1	1	4	3	1	1	5	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:85459153C>A	ENST00000393217.2	+	9	2566	c.2505C>A	c.(2503-2505)agC>agA	p.S835R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	835										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTTGCACAGCCTGAGTAATT	0.358																																																	0													121	117	118					12																	85459153		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2505C>A	12.37:g.85459153C>A	ENSP00000376910:p.Ser835Arg		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.S835R	ENST00000393217.2	37	c.2505	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318981	0.41096	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.09723	2.95	5.6	-1.44	0.08856	.	0.235862	0.33364	N	0.004996	T	0.11153	0.0272	L	0.58354	1.805	0.23645	N	0.997212	P;P	0.50369	0.868;0.934	B;P	0.47206	0.23;0.541	T	0.14559	-1.0468	10	0.37606	T	0.19	.	4.363	0.11211	0.3795:0.2912:0.0:0.3293	.	835;810	Q96JM4;C9JI57	LRIQ1_HUMAN;.	R	835;810;835	ENSP00000376910:S835R	ENSP00000256007:S835R	S	+	3	2	LRRIQ1	83983284	0.944000	0.32072	0.137000	0.22149	0.938000	0.57974	0.271000	0.18626	-0.145000	0.11294	-0.224000	0.12420	AGC	LRRIQ1	-	NULL	ENSG00000133640		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	50	0	C	NM_032165		85459153	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.818	A	A	85459153	C	A	85459153	3	1	12	1	0	0	0	0	1	0	0	0	9064	738	26	3	2535	3	LRRIQ1	12	85459153	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	12778533	85459153	48392742	308	3411											
AMDHD1	144193	genome.wustl.edu	37	chr12	96350667	96350667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagctcaagatgctgcgcGtgattgagcgcgcccggcgg	6	6	16	13	7	1	3	1	2	0	1	1	4	1	3	2	2	4	2	2	2	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:96350667G>A	ENST00000266736.2	+	4	620	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	172					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GATGCTGCGCGTGATTGAGCG	0.632																																																	0													98	100	100					12																	96350667		2203	4300	6503	SO:0001583	missense	0			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.514G>A	12.37:g.96350667G>A	ENSP00000266736:p.Val172Met		A8K463|Q68CI8	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	p.V172M	ENST00000266736.2	37	c.514	CCDS9057.1	12	.	.	.	.	.	.	.	.	.	.	G	29.4	5.003063	0.93287	.	.	ENSG00000139344	ENST00000266736	T	0.40756	1.02	5.57	5.57	0.84162	Metal-dependent hydrolase, composite domain (1);	0.053951	0.64402	D	0.000001	T	0.75939	0.3918	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.82870	-0.0243	10	0.87932	D	0	-1.7215	19.5469	0.95302	0.0:0.0:1.0:0.0	.	172	Q96NU7	HUTI_HUMAN	M	172	ENSP00000266736:V172M	ENSP00000266736:V172M	V	+	1	0	AMDHD1	94874798	1.000000	0.71417	0.922000	0.36590	0.842000	0.47809	9.440000	0.97547	2.632000	0.89209	0.491000	0.48974	GTG	AMDHD1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI	ENSG00000139344		0.632	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMDHD1	HGNC	protein_coding	OTTHUMT00000408640.1	-	0	50	0	G	NM_152435		96350667	1	tier1	-	no_errors	ENST00000266736	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	A	A	96350667	G	A	96350667	3	1	12	1	0	0	0	0	1	0	0	0	567	1145	40	1	528	1	AMDHD1	12	96350667	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	10891514	96350667	37501228	309	3412											
STAB2	55576	genome.wustl.edu	37	chr12	104098353	104098353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggaagatgtaggacatgCtcctcagagctgacctgccc	11	7	12	11	0	1	3	1	1	0	2	2	5	2	5	3	2	3	3	3	2	3	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:104098353C>T	ENST00000388887.2	+	36	4065	c.3861C>T	c.(3859-3861)tgC>tgT	p.C1287C		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTAGGACATGCTCCTCAGAGC	0.373																																																	0													113	112	112					12																	104098353		2203	4300	6503	SO:0001819	synonymous_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3861C>T	12.37:g.104098353C>T				Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1287	ENST00000388887.2	37	c.3861	CCDS31888.1	12																																																																																			STAB2	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000136011		0.373	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	63	0	C			104098353	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	silent	16.67	45	9	SNP	0.649	T	T	104098353	C	T	104098353	2	4	12	1	0	0	0	0	0	0	0	1	15285	805	28	3		3	STAB2	12	104098353	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	7747686	104098353	29753542	310	3413											
SART3	9733	genome.wustl.edu	37	chr12	108938242	108938242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgccggaaaagactgtGgactttctcaagctgtgaat	10	11	11	9	2	1	2	1	1	1	1	3	4	1	4	1	2	1	1	1	2	4	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:108938242G>T	ENST00000228284.3	-	5	976	c.742C>A	c.(742-744)Cac>Aac	p.H248N	SART3_ENST00000552221.1_5'Flank|SART3_ENST00000431469.2_Missense_Mutation_p.H248N	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	248					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AAAAGACTGTGGACTTTCTCA	0.453									Porokeratosis																																								0													151	147	149					12																	108938242		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.742C>A	12.37:g.108938242G>T	ENSP00000228284:p.His248Asn		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.H248N	ENST00000228284.3	37	c.742	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	9.652	1.141736	0.21205	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815;ENST00000550322	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.85	4.94	0.65067	.	0.046742	0.85682	D	0.000000	T	0.26846	0.0657	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.31680	0.147;0.335;0.287;0.287	B;B;B;B	0.30943	0.056;0.122;0.057;0.113	T	0.03221	-1.1059	10	0.19147	T	0.46	-23.6633	15.1201	0.72434	0.0:0.1409:0.8591:0.0	.	196;266;248;248	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	N	248;248;196;266;116	ENSP00000228284:H248N;ENSP00000414453:H248N;ENSP00000449386:H266N;ENSP00000447324:H116N	ENSP00000228284:H248N	H	-	1	0	SART3	107462372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.414000	0.66405	1.417000	0.47077	0.655000	0.94253	CAC	SART3	-	NULL	ENSG00000075856		0.453	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	-	0	64	0	G			108938242	-1	tier1	-	no_errors	ENST00000228284	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	108938242	G	T	108938242	3	4	12	1	0	0	0	0	1	0	0	0	13892	1348	47	3	2209	3	SART3	12	108938242	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4839889	108938242	24913653	311	3414											
MYO1H	283446	genome.wustl.edu	37	chr12	109865375	109865375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcataccgaaggaaatacGagcatttcttgcaaaggtaa	15	10	9	7	2	1	0	0	0	1	0	1	3	1	1	1	2	5	4	1	2	6	6	rs369196571		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:109865375G>A	ENST00000431443.2	+	18	1915	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	MYO1H_ENST00000310903.5_Missense_Mutation_p.E629K	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	639	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAGGAAATACGAGCATTTCTT	0.433																																																	0								G	LYS/GLU	0,3836		0,0,1918	207	202	204		1885	5.5	1	12		204	1,8239		0,1,4119	no	missense	MYO1H	NM_001101421.3	56	0,1,6037	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	629/1023	109865375	1,12075	1918	4120	6038	SO:0001583	missense	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.1915G>A	12.37:g.109865375G>A	ENSP00000444076:p.Glu639Lys		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E639K	ENST00000431443.2	37	c.1915		12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511127	0.85389	0.0	1.21E-4	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87179	-2.22;-2.22	5.46	5.46	0.80206	.	.	.	.	.	D	0.92642	0.7662	M	0.72479	2.2	0.54753	D	0.999984	D	0.76494	0.999	D	0.67548	0.952	D	0.92704	0.6177	9	0.54805	T	0.06	.	17.8541	0.88756	0.0:0.0:1.0:0.0	.	629	F5H3C6	.	K	629;639	ENSP00000439182:E629K;ENSP00000444076:E639K	ENSP00000439182:E629K	E	+	1	0	MYO1H	108349758	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	9.253000	0.95501	2.552000	0.86080	0.650000	0.86243	GAG	MYO1H	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000174527		0.433	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		-	0	116	0	G	NM_173597		109865375	1	tier1	-	no_errors	ENST00000431443	ensembl	human	known	74_37	missense	7.96	104	9	SNP	1.000	A	A	109865375	G	A	109865375	3	1	12	1	0	0	0	0	1	0	0	0	10113	1059	37	1	1955	1	MYO1H	12	109865375	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	927133	109865375	23986520	312	3415											
CAMKK2	10645	genome.wustl.edu	37	chr12	121706470	121706470	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcctgccggatcagcttcTttttggacagcaccttcatt	6	13	9	13	2	3	0	2	0	1	0	3	2	3	2	3	3	3	2	3	3	0	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr12:121706470T>G	ENST00000324774.5	-	5	1424	c.596A>C	c.(595-597)aAg>aCg	p.K199T	CAMKK2_ENST00000412367.2_Missense_Mutation_p.K199T|CAMKK2_ENST00000404169.3_Missense_Mutation_p.K199T|CAMKK2_ENST00000392473.2_Missense_Mutation_p.K199T|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000347034.2_Missense_Mutation_p.K199T|CAMKK2_ENST00000402834.4_Missense_Mutation_p.K199T|CAMKK2_ENST00000446440.2_Missense_Mutation_p.K199T|CAMKK2_ENST00000392474.2_Missense_Mutation_p.K199T|CAMKK2_ENST00000538733.1_Missense_Mutation_p.K199T|CAMKK2_ENST00000337174.3_Missense_Mutation_p.K199T	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATCAGCTTCTTTTTGGACAG	0.562																																																	0													136	131	133					12																	121706470		2203	4300	6503	SO:0001583	missense	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.596A>C	12.37:g.121706470T>G	ENSP00000312741:p.Lys199Thr		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K199T	ENST00000324774.5	37	c.596	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775597	0.70107	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053435	0.64402	D	0.000001	T	0.71333	0.3327	L	0.28274	0.84	0.53005	D	0.999969	B;D;D;B;D;D;D	0.76494	0.371;0.991;0.997;0.109;0.999;0.998;0.996	B;P;D;B;D;D;D	0.74023	0.295;0.907;0.962;0.099;0.979;0.982;0.944	T	0.75227	-0.3392	10	0.72032	D	0.01	0.0532	13.897	0.63778	0.0:0.0:0.0:1.0	.	199;199;199;199;199;199;199	Q96RR4-6;Q96RR4-2;Q96RR4-7;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;KKCC2_HUMAN;.	T	199;199;199;199;199;199;199;182;199;199	ENSP00000376266:K199T;ENSP00000321230:K199T;ENSP00000445944:K199T;ENSP00000336634:K199T;ENSP00000312741:K199T;ENSP00000388368:K199T;ENSP00000384600:K199T;ENSP00000388273:K199T;ENSP00000376265:K199T	ENSP00000312741:K199T	K	-	2	0	CAMKK2	120190853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.435000	0.59941	2.040000	0.60383	0.456000	0.33151	AAG	CAMKK2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000110931		0.562	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	-	0	72	0	T	NM_172226		121706470	-1	tier1	-	no_errors	ENST00000324774	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	G	G	121706470	T	G	121706470	3	3	12	1	0	0	0	0	1	0	0	0	2614	1609	56	4	1232	4	CAMKK2	12	121706470	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	11841095	121706470	12145425	313	3416											
EFHA1	221154	genome.wustl.edu	37	chr13	22178166	22178166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctcctgccagggccgcgCcggccactgccgctgccaag	4	5	13	19	4	0	0	0	0	0	0	1	0	1	0	7	2	4	2	7	2	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:22178166C>T	ENST00000382374.4	-	1	187	c.122G>A	c.(121-123)gGc>gAc	p.G41D		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	41	Ala-rich.				mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CAGGGCCGCGCCGGCCACTGC	0.711																																																	0													11	12	12					13																	22178166		2001	3966	5967	SO:0001583	missense	0			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.122G>A	13.37:g.22178166C>T	ENSP00000371811:p.Gly41Asp		Q8N0T6|Q8NAX8	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.G41D	ENST00000382374.4	37	c.122	CCDS9297.1	13	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502773	0.44558	.	.	ENSG00000165487	ENST00000382374	T	0.49139	0.79	5.01	4.14	0.48551	.	0.287310	0.30473	N	0.009542	T	0.51126	0.1656	M	0.68317	2.08	0.09310	N	0.99999	P	0.45348	0.856	P	0.46144	0.505	T	0.50092	-0.8868	10	0.62326	D	0.03	-16.5238	11.048	0.47870	0.0:0.8125:0.1875:0.0	.	41	Q8IYU8	EFHA1_HUMAN	D	41	ENSP00000371811:G41D	ENSP00000371811:G41D	G	-	2	0	EFHA1	21076166	0.801000	0.28930	0.269000	0.24586	0.002000	0.02628	1.656000	0.37355	1.271000	0.44313	0.561000	0.74099	GGC	MICU2	-	NULL	ENSG00000165487		0.711	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICU2	HGNC	protein_coding	OTTHUMT00000144355.1	-	0	32	0	C	NM_152726		22178166	-1	tier1	-	no_errors	ENST00000382374	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.258	T	T	22178166	C	T	22178166	3	4	12	1	0	0	0	0	1	0	0	0	4957	739	26	3	1230	3	EFHA1	13	22178166	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		22178166	92991712	314	3417											
FLT1	2321	genome.wustl.edu	37	chr13	28880827	28880827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcttactcaatcttgagcGaggccttgggtttgctgtca	7	15	10	9	1	4	1	2	1	2	0	4	2	4	1	1	2	3	2	1	2	2	5	rs368266056		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:28880827G>A	ENST00000282397.4	-	29	4054	c.3803C>T	c.(3802-3804)tCg>tTg	p.S1268L	FLT1_ENST00000543394.1_Missense_Mutation_p.S291L|FLT1_ENST00000540678.1_Missense_Mutation_p.S486L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1268					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATCTTGAGCGAGGCCTTGGG	0.532																																																	0													92	86	88					13																	28880827		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3803C>T	13.37:g.28880827G>A	ENSP00000282397:p.Ser1268Leu		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.S1268L	ENST00000282397.4	37	c.3803	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849954	0.32699	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.77358	-0.87;-1.07;-1.09	5.53	3.79	0.43588	.	0.385353	0.25065	N	0.033417	T	0.64778	0.2629	L	0.38175	1.15	0.20489	N	0.999893	B	0.28880	0.226	B	0.20184	0.028	T	0.54814	-0.8237	10	0.34782	T	0.22	.	9.8174	0.40860	0.1642:0.0:0.8358:0.0	.	1268	P17948	VGFR1_HUMAN	L	1268;291;486	ENSP00000282397:S1268L;ENSP00000437841:S291L;ENSP00000443311:S486L	ENSP00000282397:S1268L	S	-	2	0	FLT1	27778827	0.973000	0.33851	0.331000	0.25455	0.179000	0.23085	4.821000	0.62679	1.342000	0.45619	-0.142000	0.14014	TCG	FLT1	-	NULL	ENSG00000102755		0.532	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0	67	0	G			28880827	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	45.07	39	32	SNP	0.096	A	A	28880827	G	A	28880827	3	1	12	1	0	0	0	0	1	0	0	0	5963	1059	37	1	221	1	FLT1	13	28880827	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	6702661	28880827	86289051	315	3418											
POSTN	10631	genome.wustl.edu	37	chr13	38158981	38158981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatcctatctcaattgtaTttccttccagcgtctcaaag	10	14	4	13	1	2	0	2	0	2	0	7	0	5	0	3	0	1	1	3	0	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:38158981T>C	ENST00000379747.4	-	8	1097	c.980A>G	c.(979-981)aAt>aGt	p.N327S	POSTN_ENST00000379743.4_Missense_Mutation_p.N327S|POSTN_ENST00000541481.1_Missense_Mutation_p.N327S|POSTN_ENST00000379742.4_Missense_Mutation_p.N327S|POSTN_ENST00000379749.4_Missense_Mutation_p.N327S|POSTN_ENST00000541179.1_Missense_Mutation_p.N327S	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	327	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCAATTGTATTTCCTTCCAG	0.378																																																	0													217	189	198					13																	38158981		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.980A>G	13.37:g.38158981T>C	ENSP00000369071:p.Asn327Ser		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.N327S	ENST00000379747.4	37	c.980	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	7.844	0.722620	0.15439	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.41	4.16	0.48862	FAS1 domain (5);	0.208381	0.53938	D	0.000049	T	0.67002	0.2847	N	0.00572	-1.36	0.38782	D	0.954783	B;B;B;B;B;B;B	0.14012	0.005;0.002;0.004;0.004;0.007;0.009;0.004	B;B;B;B;B;B;B	0.23574	0.047;0.017;0.017;0.017;0.028;0.01;0.017	T	0.66126	-0.6001	10	0.08179	T	0.78	.	6.7649	0.23560	0.0:0.0762:0.154:0.7698	.	327;327;327;327;327;327;327	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	S	327;327;327;327;327;327;244	ENSP00000437959:N327S;ENSP00000369073:N327S;ENSP00000369071:N327S;ENSP00000369067:N327S;ENSP00000369066:N327S;ENSP00000437953:N327S	ENSP00000369066:N327S	N	-	2	0	POSTN	37056981	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	1.053000	0.30442	2.043000	0.60533	0.533000	0.62120	AAT	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.378	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	50	0	T	NM_006475		38158981	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	38.46	40	25	SNP	0.998	C	C	38158981	T	C	38158981	3	2	12	1	0	0	0	0	1	0	0	0	12298	1493	52	4	1594	4	POSTN	13	38158981	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	9278154	38158981	77010897	316	3419											
PCDH9	5101	genome.wustl.edu	37	chr13	67205467	67205467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttccactacccaccggcTcatggtctcctagaccactg	7	9	9	16	1	2	1	1	0	1	1	4	1	3	1	5	3	1	2	5	3	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:67205467T>C	ENST00000377865.2	-	3	3349	c.3215A>G	c.(3214-3216)gAg>gGg	p.E1072G	PCDH9_ENST00000456367.1_Missense_Mutation_p.E1038G|PCDH9_ENST00000328454.5_Missense_Mutation_p.E1038G|PCDH9_ENST00000544246.1_Missense_Mutation_p.E1072G|RNU7-87P_ENST00000459343.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1072					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCCACCGGCTCATGGTCTCC	0.552																																																	0													121	105	110					13																	67205467		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3215A>G	13.37:g.67205467T>C	ENSP00000367096:p.Glu1072Gly		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1072G	ENST00000377865.2	37	c.3215	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043398	0.75732	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.66995	-0.24;-0.24;-0.08;-0.08	5.63	5.63	0.86233	.	0.000000	0.45126	D	0.000400	T	0.64538	0.2607	L	0.56199	1.76	0.46185	D	0.998914	B;B	0.18610	0.014;0.029	B;B	0.17722	0.019;0.015	T	0.63395	-0.6647	10	0.87932	D	0	.	15.8367	0.78805	0.0:0.0:0.0:1.0	.	1038;1072	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	G	1072;1072;1038;1038	ENSP00000442186:E1072G;ENSP00000367096:E1072G;ENSP00000401699:E1038G;ENSP00000332060:E1038G	ENSP00000332060:E1038G	E	-	2	0	PCDH9	66103468	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.661000	0.83786	2.142000	0.66516	0.533000	0.62120	GAG	PCDH9	-	NULL	ENSG00000184226		0.552	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	56	0	T	NM_203487		67205467	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C	C	67205467	T	C	67205467	3	2	12	1	0	0	0	0	1	0	0	0	11557	1551	54	4	506	4	PCDH9	13	67205467	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	29046486	67205467	47964411	317	3420											
KLHL1	57626	genome.wustl.edu	37	chr13	70456449	70456449	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggcagtcttataaaggcaAgaagcatgctcaggtcattg	12	10	12	7	0	3	1	2	0	1	1	3	1	3	1	0	3	2	4	0	3	5	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:70456449A>T	ENST00000377844.4	-	5	1952	c.1193T>A	c.(1192-1194)cTt>cAt	p.L398H	KLHL1_ENST00000545028.1_Missense_Mutation_p.L205H	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	398					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TATAAAGGCAAGAAGCATGCT	0.393																																																	0													169	139	149					13																	70456449		2203	4300	6503	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1193T>A	13.37:g.70456449A>T	ENSP00000367075:p.Leu398His		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L398H	ENST00000377844.4	37	c.1193	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071791	0.76301	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.78595	-1.19;-1.19	4.89	4.89	0.63831	BTB/Kelch-associated (2);	0.000000	0.56097	D	0.000031	D	0.92113	0.7500	H	0.97707	4.06	0.51482	D	0.999927	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94788	0.7959	10	0.87932	D	0	.	14.7871	0.69810	1.0:0.0:0.0:0.0	.	398;398	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	H	398;205	ENSP00000367075:L398H;ENSP00000439602:L205H	ENSP00000367075:L398H	L	-	2	0	KLHL1	69354450	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	9.287000	0.95975	1.948000	0.56530	0.482000	0.46254	CTT	KLHL1	-	pfam_BACK,smart_BACK	ENSG00000150361		0.393	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	-	0	48	0	A	NM_020866		70456449	-1	tier1	-	no_errors	ENST00000377844	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	T	T	70456449	A	T	70456449	3	4	12	1	0	0	0	0	1	0	0	0	8392	72	3	5	1081	5	KLHL1	13	70456449	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	3250982	70456449	44713429	318	3421											
NALCN	259232	genome.wustl.edu	37	chr13	101763024	101763024	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcctctggctgtttgaTccatgtcttagtgacctaaa	8	15	8	10	0	2	3	0	3	2	0	4	3	4	3	3	1	0	2	3	1	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:101763024T>G	ENST00000251127.6	-	20	2391	c.2310A>C	c.(2308-2310)ggA>ggC	p.G770G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	770					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCTGTTTGATCCATGTCTTA	0.373																																																	0													152	138	143					13																	101763024		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2310A>C	13.37:g.101763024T>G			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.G770	ENST00000251127.6	37	c.2310	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	73	0	T	NM_052867		101763024	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.671	G	G	101763024	T	G	101763024	2	3	12	1	0	0	0	0	0	0	0	1	10186	1422	50	4		4	NALCN	13	101763024	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	31306575	101763024	13406854	319	3422											
NALCN	259232	genome.wustl.edu	37	chr13	101997673	101997673	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctaagtcccagatcttcaAggtccatgcatttaaatcca	12	12	6	11	0	2	1	1	0	1	1	5	1	5	1	3	1	2	2	3	1	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:101997673A>C	ENST00000251127.6	-	7	824	c.743T>G	c.(742-744)cTt>cGt	p.L248R	NALCN_ENST00000376196.3_Missense_Mutation_p.L248R|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	248					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGATCTTCAAGGTCCATGCA	0.433																																																	0													182	166	171					13																	101997673		2203	4300	6503	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.743T>G	13.37:g.101997673A>C	ENSP00000251127:p.Leu248Arg		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L248R	ENST00000251127.6	37	c.743	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274207	0.80580	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98633	-4.66;-5.04	5.9	4.7	0.59300	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98991	0.9656	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.99308	1.0903	10	0.72032	D	0.01	.	12.2522	0.54605	0.9328:0.0:0.0672:0.0	.	248;248	F2Z323;Q8IZF0	.;NALCN_HUMAN	R	248	ENSP00000251127:L248R;ENSP00000365367:L248R	ENSP00000251127:L248R	L	-	2	0	NALCN	100795674	1.000000	0.71417	0.934000	0.37439	0.997000	0.91878	7.159000	0.77483	2.251000	0.74343	0.528000	0.53228	CTT	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.433	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	103	0	A	NM_052867		101997673	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.994	C	C	101997673	A	C	101997673	3	2	12	1	0	0	0	0	1	0	0	0	10186	72	3	4	4625	4	NALCN	13	101997673	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	234649	101997673	13172205	320	3423											
DAOA	267012	genome.wustl.edu	37	chr13	106142220	106142220	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttacctttcacaagacCtggccaactgagaccggatc	11	8	10	12	1	1	2	1	1	0	2	2	5	1	3	4	3	2	1	4	3	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr13:106142220C>A	ENST00000375936.3	+	4	327				DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000329625.5_Intron	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator						negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ttcacaagacctggccaactg	0.483																																																	0													81	87	85					13																	106142220		2192	4296	6488	SO:0001627	intron_variant	0			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"G72 transcript"	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.282-30C>A	13.37:g.106142220C>A			A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Silent	SNP	NULL	p.T56	ENST00000375936.3	37	c.168	CCDS41905.1	13																																																																																			DAOA	-	NULL	ENSG00000182346		0.483	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	HGNC	protein_coding	OTTHUMT00000099040.2	-	0	49	0	C	NM_172370		106142220	1	tier1	-	no_errors	ENST00000595812	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.000	A	A	106142220	C	A	106142220	1	1	12	0	1	0	0	0	0	0	0	0	4241	668	24	3		3	DAOA	13	106142220	Intron	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	4144547	106142220	9027658	321	3424											
OR11H12	440153	genome.wustl.edu	37	chr14	19378261	19378261	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaagctcattagttatttTtggtaacttcctctttatta	9	21	4	7	0	3	0	1	0	2	0	4	0	4	0	1	1	2	3	1	1	6	10			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:19378261T>G	ENST00000550708.1	+	1	740	c.668T>G	c.(667-669)tTt>tGt	p.F223C		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTAGTTATTTTTGGTAACTTC	0.438																																																	0													1	1	1					14																	19378261		416	910	1326	SO:0001583	missense	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.668T>G	14.37:g.19378261T>G	ENSP00000449002:p.Phe223Cys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F223C	ENST00000550708.1	37	c.668	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	t	5.433	0.264985	0.10294	.	.	ENSG00000257115	ENST00000550708	T	0.39787	1.06	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.345819	0.20869	N	0.084217	T	0.38054	0.1026	M	0.61703	1.905	0.26580	N	0.973401	B	0.22146	0.065	B	0.32342	0.144	T	0.46062	-0.9218	9	0.66056	D	0.02	.	5.5303	0.16980	0.0:1.0E-4:0.0:0.9999	.	223	B2RN74	O11HC_HUMAN	C	223	ENSP00000449002:F223C	ENSP00000449002:F223C	F	+	2	0	CR383656.1	18448261	0.007000	0.16637	0.991000	0.47740	0.273000	0.26683	1.758000	0.38410	0.518000	0.28383	0.055000	0.15244	TTT	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000257115		0.438	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	-	0	41	0	T	NM_001013354		19378261	1	tier1	-	no_errors	ENST00000550708	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.095	G	G	19378261	T	G	19378261	3	3	12	1	0	0	0	0	1	0	0	0	10966	1841	64	4	670	4	OR11H12	14	19378261	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09		19378261	87971279	322	3425											
POTEM	641455	genome.wustl.edu	37	chr14	20020051	20020051	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcccatcttgctcctgAgtgtcttcatagcagaatca	9	13	7	12	0	4	2	2	1	2	1	5	2	5	2	2	0	3	2	2	0	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:20020051A>C	ENST00000551509.1	-	1	221	c.170T>G	c.(169-171)cTc>cGc	p.L57R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	57										endometrium(4)|kidney(1)|lung(4)	9						CTTGCTCCTGAGTGTCTTCAT	0.617																																																	0													10	15	14					14																	20020051		300	1019	1319	SO:0001583	missense	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.170T>G	14.37:g.20020051A>C	ENSP00000452296:p.Leu57Arg			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L57R	ENST00000551509.1	37	c.170	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	a	8.401	0.841916	0.16963	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.42900	0.96	.	.	.	.	.	.	.	.	T	0.51787	0.1695	L	0.59436	1.845	0.09310	N	1	D	0.71674	0.998	D	0.63488	0.915	T	0.37596	-0.9699	6	.	.	.	.	.	.	.	.	57	A6NI47	POTEM_HUMAN	R	57	ENSP00000452296:L57R	.	L	-	2	0	POTEM	19090051	0.000000	0.05858	0.029000	0.17559	0.033000	0.12548	-1.469000	0.02348	0.129000	0.18514	0.128000	0.15822	CTC	POTEM	-	NULL	ENSG00000187537		0.617	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	-	0	140	0	A	NM_001145442		20020051	-1	tier1	-	no_errors	ENST00000547848	ensembl	human	known	74_37	missense	7.45	148	12	SNP	0.031	C	C	20020051	A	C	20020051	3	2	12	1	0	0	0	0	1	0	0	0	12307	304	11	4	1396	4	POTEM	14	20020051	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	641790	20020051	87329489	323	3426											
REC8	9985	genome.wustl.edu	37	chr14	24641929	24641929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacccacttcaggctggcgGcgactcgcggcagccggttg	5	6	14	16	5	1	0	1	0	0	0	2	1	1	0	3	5	1	3	3	5	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:24641929G>T	ENST00000311457.3	+	3	663	c.64G>T	c.(64-66)Gcg>Tcg	p.A22S	REC8_ENST00000559919.1_Missense_Mutation_p.A22S			O95072	REC8_HUMAN	REC8 meiotic recombination protein	22					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CAGGCTGGCGGCGACTCGCGG	0.667																																					NSCLC(139;1764 2537 12868 49041)												0													30	37	35					14																	24641929		1933	4135	6068	SO:0001583	missense	0			AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.64G>T	14.37:g.24641929G>T	ENSP00000308699:p.Ala22Ser		A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.A22S	ENST00000311457.3	37	c.64	CCDS41932.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.648476	0.96714	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.55413	0.52	5.25	5.25	0.73442	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.71871	2.18	0.42704	D	0.993627	D;D	0.89917	0.988;1.0	D;D	0.87578	0.982;0.998	T	0.73458	-0.3976	10	0.52906	T	0.07	-15.0076	15.7429	0.77914	0.0:0.0:1.0:0.0	.	22;22	O95072-2;O95072	.;REC8_HUMAN	S	22	ENSP00000308699:A22S	ENSP00000308699:A22S	A	+	1	0	REC8	23711769	1.000000	0.71417	0.232000	0.24009	0.622000	0.37654	5.156000	0.64905	2.440000	0.82611	0.561000	0.74099	GCG	REC8	-	pfam_Rad21_Rec8_N	ENSG00000100918		0.667	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000415889.3	-	0	70	0	G	NM_005132		24641929	1	tier1	-	no_errors	ENST00000311457	ensembl	human	known	74_37	missense	16.67	60	12	SNP	0.808	T	T	24641929	G	T	24641929	3	4	12	1	0	0	0	0	1	0	0	0	13244	1203	42	3	70	3	REC8	14	24641929	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4621878	24641929	82707611	324	3427											
MDGA2	161357	genome.wustl.edu	37	chr14	47351346	47351346	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttaattagctctgtcaAgttatatgtaattaattctc	11	19	6	5	0	3	0	1	0	2	0	4	0	3	0	0	1	1	4	0	1	7	8			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:47351346A>C	ENST00000399232.2	-	11	2474	c.2110T>G	c.(2110-2112)Ttg>Gtg	p.L704V	MDGA2_ENST00000439988.3_Missense_Mutation_p.L773V|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000426342.1_Missense_Mutation_p.L475V|MDGA2_ENST00000357362.3_Missense_Mutation_p.L475V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	704	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGCTCTGTCAAGTTATATGTA	0.378																																																	0													63	61	62					14																	47351346		1824	4087	5911	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2110T>G	14.37:g.47351346A>C	ENSP00000382178:p.Leu704Val		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.L773V	ENST00000399232.2	37	c.2317		14	.	.	.	.	.	.	.	.	.	.	A	19.13	3.767160	0.69878	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.1	3.78	0.43462	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.41194	U	0.000924	T	0.48572	0.1507	M	0.61703	1.905	0.80722	D	1	D;P	0.54397	0.966;0.897	P;P	0.56563	0.801;0.463	T	0.53982	-0.8361	10	0.09084	T	0.74	.	3.9378	0.09313	0.7057:0.0:0.2943:0.0	.	475;704	F6W3S7;Q7Z553	.;MDGA2_HUMAN	V	704;475;773;475	ENSP00000400011:L704V;ENSP00000405456:L475V;ENSP00000382178:L773V;ENSP00000349925:L475V	ENSP00000349925:L475V	L	-	1	2	MDGA2	46421096	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.160000	0.71862	2.059000	0.61396	0.383000	0.25322	TTG	MDGA2	-	superfamily_Fibronectin_type3	ENSG00000272781		0.378	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	66	0	A	NM_182830		47351346	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	C	C	47351346	A	C	47351346	3	2	12	1	0	0	0	0	1	0	0	0	9445	69	3	4	788	4	MDGA2	14	47351346	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	22709417	47351346	59998194	325	3428											
TRIM9	114088	genome.wustl.edu	37	chr14	51489642	51489642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgagggcatcacattgggCcaccagacaggcttcaaact	12	7	11	11	0	2	2	2	1	0	1	2	3	2	2	2	3	1	2	2	3	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:51489642C>A	ENST00000298355.3	-	3	2073	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S	TRIM9_ENST00000338969.5_Missense_Mutation_p.A318S|TRIM9_ENST00000360392.4_Missense_Mutation_p.A318S	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	318					negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCACATTGGGCCACCAGACAG	0.547																																																	0													138	132	134					14																	51489642		2203	4300	6503	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.952G>T	14.37:g.51489642C>A	ENSP00000298355:p.Ala318Ser		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.A318S	ENST00000298355.3	37	c.952	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.063393	0.93898	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70164	-0.32;-0.46;0.58	5.58	5.58	0.84498	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77039	0.4072	L	0.52364	1.645	0.58432	D	0.999999	D;D;P	0.89917	1.0;0.999;0.938	D;D;P	0.91635	0.999;0.998;0.676	T	0.70156	-0.4949	10	0.15952	T	0.53	.	18.5617	0.91102	0.0:1.0:0.0:0.0	.	318;318;318	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	S	318	ENSP00000298355:A318S;ENSP00000342970:A318S;ENSP00000353561:A318S	ENSP00000298355:A318S	A	-	1	0	TRIM9	50559392	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.478000	0.81082	2.636000	0.89361	0.655000	0.94253	GCC	TRIM9	-	smart_Bbox_C	ENSG00000100505		0.547	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1	-	0	51	0	C	NM_015163		51489642	-1	tier1	-	no_errors	ENST00000338969	ensembl	human	known	74_37	missense	10.00	61	7	SNP	1.000	A	A	51489642	C	A	51489642	3	1	12	1	0	0	0	0	1	0	0	0	16597	739	26	3	1262	3	TRIM9	14	51489642	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	4138296	51489642	55859898	326	3429											
PLEKHG3	26030	genome.wustl.edu	37	chr14	65198172	65198172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattccgcgtgcatcgcgtgCgcaatgaaaggacctttttc	8	11	10	12	5	0	1	0	1	0	0	3	2	1	2	2	1	2	2	2	1	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:65198172C>T	ENST00000394691.1	+	8	1090	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R259C			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	315	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCATCGCGTGCGCAATGAAAG	0.557																																																	0													90	81	84					14																	65198172		2203	4300	6503	SO:0001583	missense	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.943C>T	14.37:g.65198172C>T	ENSP00000378183:p.Arg315Cys		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R315C	ENST00000394691.1	37	c.943		14	.	.	.	.	.	.	.	.	.	.	c	20.6	4.022431	0.75275	.	.	ENSG00000126822	ENST00000247226;ENST00000394691	T;T	0.76316	-1.01;-1.01	4.61	4.61	0.57282	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.210705	0.40469	N	0.001094	D	0.82999	0.5159	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.993	P;P	0.58970	0.849;0.828	D	0.84857	0.0817	10	0.72032	D	0.01	.	12.1202	0.53887	0.1723:0.8277:0.0:0.0	.	315;259	A1L390;A1L390-3	PKHG3_HUMAN;.	C	259;315	ENSP00000247226:R259C;ENSP00000378183:R315C	ENSP00000247226:R259C	R	+	1	0	PLEKHG3	64267925	0.691000	0.27709	1.000000	0.80357	0.989000	0.77384	1.149000	0.31626	2.113000	0.64589	0.550000	0.68814	CGC	PLEKHG3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000126822		0.557	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1		0	59	0	C	NM_015549		65198172	1			no_errors	ENST00000394691	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	65198172	C	T	65198172	3	4	12	1	0	0	0	0	1	0	0	0	12109	768	27	1	793	1	PLEKHG3	14	65198172	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	13708530	65198172	42151368	327	3430											
FAM181A	90050	genome.wustl.edu	37	chr14	94394744	94394744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgctccgtggaccatcGcaagtacctgcagaagcagc	9	5	11	16	4	0	1	0	0	0	1	2	2	1	2	5	1	4	5	5	1	3	1	rs144265486		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:94394744G>A	ENST00000267594.5	+	3	606	c.299G>A	c.(298-300)cGc>cAc	p.R100H	FAM181A_ENST00000556222.1_Missense_Mutation_p.R38H|FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557000.2_Missense_Mutation_p.R38H|FAM181A_ENST00000557719.1_Missense_Mutation_p.R38H	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	100										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GTGGACCATCGCAAGTACCTG	0.612																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	50	46	48		113,113,113,113,299	4.7	1	14	dbSNP_134	48	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	FAM181A	NM_001207071.1,NM_001207072.1,NM_001207073.1,NM_001207074.1,NM_138344.4	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	38/293,38/293,38/293,38/293,100/355	94394744	1,13005	2203	4300	6503	SO:0001583	missense	0			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.299G>A	14.37:g.94394744G>A	ENSP00000267594:p.Arg100His		B2RD39|Q96GY1	Missense_Mutation	SNP	NULL	p.R100H	ENST00000267594.5	37	c.299	CCDS9914.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.061840	0.93846	0.0	1.16E-4	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	4.65	4.65	0.58169	.	0.000000	0.53938	D	0.000046	D	0.84701	0.5530	M	0.64404	1.975	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.86860	0.2029	10	0.87932	D	0	-33.6334	17.5352	0.87829	0.0:0.0:1.0:0.0	.	100	Q8N9Y4	F181A_HUMAN	H	38;100;38;38;89	ENSP00000451802:R38H;ENSP00000267594:R100H;ENSP00000451678:R38H;ENSP00000452393:R38H	ENSP00000267594:R100H	R	+	2	0	FAM181A	93464497	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.841000	0.99482	2.148000	0.66965	0.491000	0.48974	CGC	FAM181A	-	NULL	ENSG00000140067		0.612	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	HGNC	protein_coding	OTTHUMT00000412840.1	-	0	67	0	G	NM_138344		94394744	1	tier1	rs144265486	no_errors	ENST00000267594	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	94394744	G	A	94394744	3	1	12	1	0	0	0	0	1	0	0	0	5527	1087	38	1	305	1	FAM181A	14	94394744	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	29196572	94394744	12954796	328	3431											
ATG2B	55102	genome.wustl.edu	37	chr14	96756870	96756870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaaccctctgacaatgCggccatccttccggtactgc	8	10	8	15	2	2	2	0	2	2	0	4	2	4	2	4	2	4	1	4	2	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:96756870C>T	ENST00000359933.4	-	40	6652	c.5759G>A	c.(5758-5760)cGc>cAc	p.R1920H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1920					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTGACAATGCGGCCATCCTT	0.493																																																	0													116	97	103					14																	96756870		2203	4300	6503	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5759G>A	14.37:g.96756870C>T	ENSP00000353010:p.Arg1920His		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R1920H	ENST00000359933.4	37	c.5759	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910471	0.92107	.	.	ENSG00000066739	ENST00000359933	T	0.18810	2.19	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54316	-0.8312	10	0.66056	D	0.02	.	18.7953	0.91991	0.0:1.0:0.0:0.0	.	1920	Q96BY7	ATG2B_HUMAN	H	1920	ENSP00000353010:R1920H	ENSP00000261834:R564H	R	-	2	0	ATG2B	95826623	1.000000	0.71417	0.923000	0.36655	0.566000	0.35808	7.148000	0.77389	2.503000	0.84419	0.655000	0.94253	CGC	ATG2B	-	NULL	ENSG00000066739		0.493	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1		0	41	0	C	NM_018036		96756870	-1			no_errors	ENST00000359933	ensembl	human	known	74_37	missense	10.00	26	3	SNP	1.000	T	T	96756870	C	T	96756870	3	4	12	1	0	0	0	0	1	0	0	0	1095	768	27	1	489	1	ATG2B	14	96756870	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2362126	96756870	10592670	329	3432											
BCL11B	64919	genome.wustl.edu	37	chr14	99641903	99641903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacgacttgctcttggCtggcggctgcgggggcggcg	2	8	18	13	6	1	0	0	0	1	0	2	1	1	0	0	6	2	4	0	6	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr14:99641903C>T	ENST00000357195.3	-	4	1279	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	BCL11B_ENST00000443726.2_Missense_Mutation_p.A230T|BCL11B_ENST00000345514.2_Missense_Mutation_p.A353T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	424					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TTGCTCTTGGCTGGCGGCTGC	0.677			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													16	18	17					14																	99641903		2190	4287	6477	SO:0001583	missense	0			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1270G>A	14.37:g.99641903C>T	ENSP00000349723:p.Ala424Thr		Q9H162	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A424T	ENST00000357195.3	37	c.1270	CCDS9950.1	14	.	.	.	.	.	.	.	.	.	.	C	8.227	0.803813	0.16467	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.01172	5.23;5.23;5.23	4.2	1.23	0.21249	.	1.008340	0.07981	N	0.985505	T	0.01061	0.0035	N	0.14661	0.345	0.28463	N	0.915791	P;P	0.38711	0.613;0.643	B;B	0.42188	0.284;0.379	T	0.49173	-0.8967	10	0.13470	T	0.59	-3.8444	6.9576	0.24580	0.0:0.6944:0.1432:0.1623	.	353;424	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	T	424;353;230	ENSP00000349723:A424T;ENSP00000280435:A353T;ENSP00000387419:A230T	ENSP00000280435:A353T	A	-	1	0	BCL11B	98711656	0.927000	0.31430	0.032000	0.17829	0.775000	0.43874	1.703000	0.37846	0.020000	0.15106	0.561000	0.74099	GCC	BCL11B	-	NULL	ENSG00000127152		0.677	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	HGNC	protein_coding	OTTHUMT00000072332.2	-	0	33	0	C	NM_138576		99641903	-1	tier1	-	no_errors	ENST00000357195	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.481	T	T	99641903	C	T	99641903	3	4	12	1	0	0	0	0	1	0	0	0	1365	797	28	3	1418	3	BCL11B	14	99641903	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2885033	99641903	7707637	330	3433											
NDN	4692	genome.wustl.edu	37	chr15	23931491	23931491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttctctgtatcgggAgggccaggcctgggggtctt	5	10	16	10	1	2	1	0	0	2	1	4	2	2	2	2	5	1	2	2	5	1	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:23931491A>G	ENST00000331837.4	-	1	959	c.874T>C	c.(874-876)Tcc>Ccc	p.S292P		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	292	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGTATCGGGAGGGCCAGGCC	0.587									Prader-Willi syndrome																																								0													30	34	33					15																	23931491		2203	4295	6498	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.874T>C	15.37:g.23931491A>G	ENSP00000332643:p.Ser292Pro		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S292P	ENST00000331837.4	37	c.874	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614464	0.46631	.	.	ENSG00000182636	ENST00000331837	T	0.02606	4.23	3.5	1.09	0.20402	.	0.418879	0.23830	N	0.044158	T	0.02807	0.0084	L	0.33093	0.98	0.28946	N	0.890705	P	0.51351	0.944	P	0.47603	0.551	T	0.39820	-0.9595	10	0.36615	T	0.2	.	2.7864	0.05375	0.6562:0.0:0.1229:0.2209	.	292	Q99608	NECD_HUMAN	P	292	ENSP00000332643:S292P	ENSP00000332643:S292P	S	-	1	0	NDN	21482584	0.887000	0.30362	0.913000	0.36048	0.977000	0.68977	1.527000	0.35975	0.207000	0.20607	0.459000	0.35465	TCC	NDN	-	pfscan_MAGE	ENSG00000182636		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	-	0	48	0	A	NM_002487		23931491	-1	tier1	-	no_errors	ENST00000331837	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.931	G	G	23931491	A	G	23931491	3	3	12	1	0	0	0	0	1	0	0	0	10286	304	11	4	95	4	NDN	15	23931491	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09		23931491	78599901	331	3434											
SNRPN	6638	genome.wustl.edu	37	chr15	25223584	25223584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggaatgcgtccaccaaGaccttagcatactgttgatc	11	9	8	13	1	0	2	0	1	0	1	2	3	1	3	4	1	3	2	4	1	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:25223584G>C	ENST00000400100.1	+	13	1606	c.716G>C	c.(715-717)aGa>aCa	p.R239T	SNRPN_ENST00000390687.4_Missense_Mutation_p.R239T|SNHG14_ENST00000551631.2_RNA|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.R239T|SNRPN_ENST00000554227.2_Missense_Mutation_p.R243T|SNRPN_ENST00000577565.1_Missense_Mutation_p.R239T|SNRPN_ENST00000444203.2_Missense_Mutation_p.R243T|SNRPN_ENST00000400098.1_Missense_Mutation_p.R239T|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400097.1_Missense_Mutation_p.R239T	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	239					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CGTCCACCAAGACCTTAGCAT	0.453									Prader-Willi syndrome																																								0													274	258	263					15																	25223584		1911	4124	6035	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.716G>C	15.37:g.25223584G>C	ENSP00000382972:p.Arg239Thr		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.R243T	ENST00000400100.1	37	c.728	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884395	0.51908	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	4.6	3.68	0.42216	.	0.104566	0.64402	D	0.000008	T	0.29491	0.0735	L	0.47716	1.5	0.80722	D	1	P;P	0.37781	0.608;0.608	B;B	0.32289	0.143;0.143	T	0.05305	-1.0893	10	0.21014	T	0.42	-8.3275	8.9155	0.35579	0.1027:0.0:0.8973:0.0	.	243;239	B3KVR1;P63162	.;RSMN_HUMAN	T	239;239;239;243;239;243	ENSP00000382972:R239T;ENSP00000382970:R239T;ENSP00000382969:R239T;ENSP00000452342:R243T;ENSP00000375105:R239T;ENSP00000408767:R243T	ENSP00000375105:R239T	R	+	2	0	SNRPN	22774677	1.000000	0.71417	0.729000	0.30791	0.946000	0.59487	6.504000	0.73704	1.299000	0.44798	0.591000	0.81541	AGA	SNRPN	-	pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.453	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0	31	0	G	NM_003097		25223584	1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	C	C	25223584	G	C	25223584	3	2	12	1	0	0	0	0	1	0	0	0	14915	942	33	5	742	5	SNRPN	15	25223584	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1292093	25223584	77307808	332	3435											
UBE3A	7337	genome.wustl.edu	37	chr15	25616050	25616050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccaagttcagtttccaggGggtccactcgaggacctttc	8	10	10	13	1	1	0	1	0	0	0	5	2	3	1	4	3	0	2	4	3	1	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:25616050G>A	ENST00000397954.2	-	4	1279	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	UBE3A_ENST00000428984.2_Missense_Mutation_p.P404L|UBE3A_ENST00000438097.1_Missense_Mutation_p.P404L|UBE3A_ENST00000566215.1_Missense_Mutation_p.P404L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000232165.3_Missense_Mutation_p.P424L			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	427	Interaction with HCV core protein.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		AGTTTCCAGGGGGTCCACTCG	0.438																																																	0													38	38	38					15																	25616050		2203	4299	6502	SO:0001583	missense	0			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1280C>T	15.37:g.25616050G>A	ENSP00000381045:p.Pro427Leu		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.P427L	ENST00000397954.2	37	c.1280	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629188	0.46944	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.58	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.81992	0.4940	L	0.58583	1.82	0.80722	D	1	D;P	0.61697	0.99;0.714	P;B	0.61592	0.891;0.414	T	0.81573	-0.0871	10	0.38643	T	0.18	.	16.5236	0.84324	0.0:0.1309:0.8691:0.0	.	424;427	Q05086-3;Q05086	.;UBE3A_HUMAN	L	424;424;427;404;404	ENSP00000232165:P424L;ENSP00000381045:P427L;ENSP00000411258:P404L;ENSP00000401265:P404L	ENSP00000232165:P424L	P	-	2	0	UBE3A	23167143	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.625000	0.74248	1.344000	0.45657	0.467000	0.42956	CCC	UBE3A	-	pirsf_Ubiquitin-protein_ligase_E6-AP	ENSG00000114062		0.438	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	-	0	57	0	G	NM_000462		25616050	-1	tier1	-	no_errors	ENST00000397954	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	A	A	25616050	G	A	25616050	3	1	12	1	0	0	0	0	1	0	0	0	16928	1232	43	3	1379	3	UBE3A	15	25616050	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	392466	25616050	76915342	333	3436											
RYR3	6263	genome.wustl.edu	37	chr15	33922209	33922209	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctcccagaaactgagaaGaactataacctgcaaatgtc	17	7	7	10	0	0	3	0	1	0	3	2	4	1	3	2	0	5	2	2	0	7	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:33922209G>A	ENST00000389232.4	+	22	2818	c.2748G>A	c.(2746-2748)aaG>aaA	p.K916K	RYR3_ENST00000415757.3_Silent_p.K916K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	916	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAACTGAGAAGAACTATAACC	0.333																																																	0													92	84	86					15																	33922209		1837	4091	5928	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2748G>A	15.37:g.33922209G>A			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.K916	ENST00000389232.4	37	c.2748	CCDS45210.1	15																																																																																			RYR3	-	pfam_Ryanodine_rcpt	ENSG00000198838		0.333	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	56	0	G			33922209	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	15.79	32	6	SNP	1.000	A	A	33922209	G	A	33922209	2	1	12	1	0	0	0	0	0	0	0	1	13815	933	33	3		3	RYR3	15	33922209	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	8306159	33922209	68609183	334	3437											
RYR3	6263	genome.wustl.edu	37	chr15	34102717	34102717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggaagaagacaaagcGgcggggagacttgtattcca	13	5	16	7	3	0	3	0	0	0	3	1	6	1	5	1	5	2	1	1	5	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:34102717G>A	ENST00000389232.4	+	71	10134	c.10064G>A	c.(10063-10065)cGg>cAg	p.R3355Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3350Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3355					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACAAAGCGGCGGGGAGAC	0.517																																																	0													68	92	85					15																	34102717		1923	4113	6036	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10064G>A	15.37:g.34102717G>A	ENSP00000373884:p.Arg3355Gln		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R3355Q	ENST00000389232.4	37	c.10064	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679638	0.88542	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.72615	-0.67	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	M	0.82323	2.585	0.48135	D	0.999594	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.914	D	0.87282	0.2293	10	0.72032	D	0.01	.	18.813	0.92065	0.0:0.0:1.0:0.0	.	3350;3355	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3355;3355;3350	ENSP00000373884:R3355Q	ENSP00000354735:R3350Q	R	+	2	0	RYR3	31890009	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	7.860000	0.86993	2.667000	0.90743	0.561000	0.74099	CGG	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	41	0	G			34102717	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A	A	34102717	G	A	34102717	3	1	12	1	0	0	0	0	1	0	0	0	13815	1116	39	1	10346	1	RYR3	15	34102717	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	180508	34102717	68428675	335	3438											
CHAC1	79094	genome.wustl.edu	37	chr15	41247939	41247939	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaccatgttgccctgcttCtgccccaccgagcaggctct	5	9	10	17	1	2	0	0	0	2	0	2	1	2	0	5	2	4	5	5	2	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:41247939C>G	ENST00000446533.3	+	3	1071	c.762C>G	c.(760-762)ttC>ttG	p.F254L	CHAC1_ENST00000444189.2_Missense_Mutation_p.F209L|CHAC1_ENST00000487220.1_Missense_Mutation_p.F27L	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	254					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGCCCTGCTTCTGCCCCACCG	0.657																																																	0													28	26	27					15																	41247939		2202	4300	6502	SO:0001583	missense	0			BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"gamma-GCT acting on glutathione homolog 1"	614587	"ChaC, cation transport regulator-like 1 (E. coli)"			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.762C>G	15.37:g.41247939C>G	ENSP00000398105:p.Phe254Leu		Q0VIA0	Missense_Mutation	SNP	pfam_ChaC	p.F254L	ENST00000446533.3	37	c.762	CCDS10070.2	15	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723836	0.30593	.	.	ENSG00000128965	ENST00000446533;ENST00000444189	T	0.41065	1.01	5.66	3.77	0.43336	.	0.321128	0.34580	N	0.003859	T	0.18383	0.0441	N	0.14661	0.345	0.24090	N	0.995913	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.20240	-1.0281	10	0.09338	T	0.73	-9.4761	2.4946	0.04618	0.1362:0.4902:0.2093:0.1643	.	209;254	Q9BUX1-2;Q9BUX1	.;CHAC1_HUMAN	L	254;209	ENSP00000398105:F254L	ENSP00000395466:F209L	F	+	3	2	CHAC1	39035231	0.885000	0.30320	1.000000	0.80357	0.879000	0.50718	-0.064000	0.11636	0.724000	0.32296	0.462000	0.41574	TTC	CHAC1	-	NULL	ENSG00000128965		0.657	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	CHAC1	HGNC	protein_coding	OTTHUMT00000252526.3	-	0	26	0	C	NM_024111		41247939	1	tier1	-	no_errors	ENST00000446533	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.997	G	G	41247939	C	G	41247939	3	3	12	1	0	0	0	0	1	0	0	0	3315	912	32	5	772	5	CHAC1	15	41247939	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	7145222	41247939	61283453	336	3439											
ZFP106	64397	genome.wustl.edu	37	chr15	42740536	42740536	+	Frame_Shift_Del	DEL	T	T	-																															taattgtgcactatgtcgccTttgggtagcaacattttcag																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:42740536delT	ENST00000263805.4	-	3	3126	c.2800delA	c.(2800-2802)aggfs	p.R935fs	ZNF106_ENST00000565611.1_Frame_Shift_Del_p.R120fs|ZNF106_ENST00000565380.1_Frame_Shift_Del_p.R163fs	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	935					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTATGTCGCCTTTGGGTAGCA	0.483																																																	0													198	199	199					15																	42740536		2203	4299	6502	SO:0001589	frameshift_variant	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.2800delA	15.37:g.42740536delT	ENSP00000263805:p.Arg935fs		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R934fs	ENST00000263805.4	37	c.2800	CCDS32208.1	15																																																																																			ZNF106	-	NULL	ENSG00000103994		0.483	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF106	HGNC	protein_coding	OTTHUMT00000422587.1		0	23	0	T	NM_022473		42740536	-1	tier1		no_errors	ENST00000263805	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.467	-	-	42740536	T	-	42740536	7	5	12	1	0	1	0	1	0	0	0	0	17685	1608	56	0	2919	0	ZFP106	15	42740536	Frame_Shift_Del	DEL	T	TCGA-2H-A9GR-01A-12D-A37C-09	1492597	42740536	59790856	337	3440											
SEMA6D	80031	genome.wustl.edu	37	chr15	48063701	48063701	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgctatgcctaaaaacTtaaactcaccaaatggtgtt	14	13	5	9	0	2	0	1	0	1	0	2	0	2	0	2	1	4	2	2	1	8	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:48063701T>G	ENST00000316364.5	+	19	3380	c.2941T>G	c.(2941-2943)Tta>Gta	p.L981V	SEMA6D_ENST00000389428.3_Missense_Mutation_p.L906V|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L938V|SEMA6D_ENST00000536845.2_Missense_Mutation_p.L981V|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L962V|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L919V|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L925V|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L919V|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L919V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	981					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCCTAAAAACTTAAACTCACC	0.473																																																	0													99	103	101					15																	48063701		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2941T>G	15.37:g.48063701T>G	ENSP00000324857:p.Leu981Val		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L981V	ENST00000316364.5	37	c.2941	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	T	5.245	0.230637	0.09969	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16324	2.37;2.36;2.36;2.35;2.37;2.37;2.37;2.37	5.8	3.52	0.40303	.	0.236955	0.36066	N	0.002820	T	0.07324	0.0185	N	0.08118	0	0.80722	D	1	B;B;B;B	0.20780	0.01;0.0;0.0;0.048	B;B;B;B	0.18871	0.007;0.003;0.003;0.023	T	0.21075	-1.0256	10	0.44086	T	0.13	.	3.5285	0.07768	0.1302:0.0714:0.15:0.6484	.	906;925;981;919	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	V	919;981;981;962;938;925;919;906	ENSP00000442040:L919V;ENSP00000446152:L981V;ENSP00000324857:L981V;ENSP00000374084:L962V;ENSP00000374083:L938V;ENSP00000346786:L925V;ENSP00000350770:L919V;ENSP00000374079:L906V	ENSP00000324857:L981V	L	+	1	2	SEMA6D	45850993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.102000	0.31050	1.032000	0.39892	0.460000	0.39030	TTA	SEMA6D	-	NULL	ENSG00000137872		0.473	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	62	0	T	NM_024966		48063701	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	G	G	48063701	T	G	48063701	3	3	12	1	0	0	0	0	1	0	0	0	14087	1606	56	4	3054	4	SEMA6D	15	48063701	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	5323165	48063701	54467691	338	3441											
FBN1	2200	genome.wustl.edu	37	chr15	48784701	48784701	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagtcattccactgggAcactgacacttgaatgaccc	12	9	7	13	0	1	3	1	3	0	0	3	4	3	4	3	1	0	0	3	1	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:48784701A>T	ENST00000316623.5	-	24	3266	c.2811T>A	c.(2809-2811)tgT>tgA	p.C937*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	937	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCCACTGGGACACTGACACT	0.348																																																	0													80	79	79					15																	48784701		2198	4296	6494	SO:0001587	stop_gained	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2811T>A	15.37:g.48784701A>T	ENSP00000325527:p.Cys937*		B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C937*	ENST00000316623.5	37	c.2811	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	A	44	10.863676	0.99480	.	.	ENSG00000166147	ENST00000316623	.	.	.	6.17	-3.83	0.04269	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8911	0.79299	0.3836:0.0:0.6164:0.0	.	.	.	.	X	937	.	ENSP00000325527:C937X	C	-	3	2	FBN1	46571993	0.996000	0.38824	0.980000	0.43619	0.985000	0.73830	0.426000	0.21363	-0.514000	0.06488	-0.263000	0.10527	TGT	FBN1	-	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.348	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	64	0	A			48784701	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	nonsense	14.55	47	8	SNP	0.969	T	T	48784701	A	T	48784701	4	4	12	1	0	0	0	0	0	1	0	0	5724	273	10	5	5976	5	FBN1	15	48784701	Nonsense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	721000	48784701	53746691	339	3442											
WDR72	256764	genome.wustl.edu	37	chr15	54003588	54003588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccagatgaggattcTgtgagcagcaatcacttctc	9	13	9	10	0	4	3	1	2	3	1	6	4	5	4	1	1	2	2	1	1	1	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:54003588T>C	ENST00000396328.1	-	8	1041	c.802A>G	c.(802-804)Aga>Gga	p.R268G	WDR72_ENST00000557913.1_Missense_Mutation_p.R267G|WDR72_ENST00000559418.1_Missense_Mutation_p.R268G|WDR72_ENST00000360509.5_Missense_Mutation_p.R268G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	268										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATGAGGATTCTGTGAGCAGCA	0.423																																																	0													122	110	114					15																	54003588		2194	4293	6487	SO:0001583	missense	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.802A>G	15.37:g.54003588T>C	ENSP00000379619:p.Arg268Gly		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R268G	ENST00000396328.1	37	c.802	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646862	0.67358	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.44881	0.91;0.91	5.5	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.74258	2.255	0.44469	D	0.997402	D	0.89917	1.0	D	0.83275	0.996	T	0.66881	-0.5811	10	0.72032	D	0.01	.	12.4175	0.55502	0.0:0.0:0.1391:0.8609	.	268	Q3MJ13	WDR72_HUMAN	G	268	ENSP00000379619:R268G;ENSP00000353699:R268G	ENSP00000353699:R268G	R	-	1	2	WDR72	51790880	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.501000	0.53325	2.221000	0.72209	0.528000	0.53228	AGA	WDR72	-	superfamily_WD40_repeat_dom	ENSG00000166415		0.423	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	-	0	55	0	T	NM_182758		54003588	-1	tier1	-	no_errors	ENST00000360509	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C	C	54003588	T	C	54003588	3	2	12	1	0	0	0	0	1	0	0	0	17371	1588	55	4	2558	4	WDR72	15	54003588	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	5218887	54003588	48527804	340	3443											
UNC13C	440279	genome.wustl.edu	37	chr15	54838937	54838937	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagattaagtctctcagcaaAaatctgtgagaaaacagtcc	16	9	7	9	0	3	2	1	1	2	2	5	3	4	2	1	0	2	1	1	0	5	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:54838937A>C	ENST00000260323.11	+	26	5714	c.5714A>C	c.(5713-5715)aAa>aCa	p.K1905T	UNC13C_ENST00000537900.1_Missense_Mutation_p.K1903T|UNC13C_ENST00000545554.1_Missense_Mutation_p.K1905T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1905	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTCAGCAAAAATCTGTGAG	0.294																																																	0													28	24	25					15																	54838937		1703	3930	5633	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5714A>C	15.37:g.54838937A>C	ENSP00000260323:p.Lys1905Thr		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K1905T	ENST00000260323.11	37	c.5714	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	13.96	2.394233	0.42410	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.19105	2.17;2.17;2.17	5.59	5.59	0.84812	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.101106	0.64402	D	0.000002	T	0.34629	0.0904	L	0.38175	1.15	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.04360	-1.0957	10	0.18710	T	0.47	.	14.9504	0.71067	1.0:0.0:0.0:0.0	.	1905	Q8NB66	UN13C_HUMAN	T	1905;1905;1903	ENSP00000260323:K1905T;ENSP00000438156:K1905T;ENSP00000442569:K1903T	ENSP00000260323:K1905T	K	+	2	0	UNC13C	52626229	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.043000	0.76572	2.125000	0.65367	0.459000	0.35465	AAA	UNC13C	-	pfam_Munc13_subgr_dom-2	ENSG00000137766		0.294	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	211	0	A	NM_173166		54838937	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	34.73	109	58	SNP	1.000	C	C	54838937	A	C	54838937	3	2	12	1	0	0	0	0	1	0	0	0	17035	14	1	4	5812	4	UNC13C	15	54838937	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	835349	54838937	47692455	341	3444											
BTBD1	53339	genome.wustl.edu	37	chr15	83687549	83687549	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgttagctgtcccatcAcaactaaagccggtatcatt	12	12	7	10	1	2	0	2	0	0	0	3	0	3	0	2	1	3	3	2	1	6	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:83687549A>T	ENST00000261721.4	-	7	1402	c.1200T>A	c.(1198-1200)tgT>tgA	p.C400*	RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.V371E	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	400					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CTGTCCCATCACAACTAAAGC	0.393																																																	0													174	143	154					15																	83687549		2203	4300	6503	SO:0001587	stop_gained	0			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.1200T>A	15.37:g.83687549A>T	ENSP00000261721:p.Cys400*		A6NMI8|Q9BX71|Q9NWN4	Nonsense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.C400*	ENST00000261721.4	37	c.1200	CCDS10322.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.744497|5.744497	0.96882|0.96882	.|.	.|.	ENSG00000064726|ENSG00000064726	ENST00000261721|ENST00000379403	.|T	.|0.76968	.|-1.06	5.23|5.23	0.226|0.226	0.15353|0.15353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.68375	.|0.2994	.|.	.|.	.|.	0.27835|0.27835	N|N	0.94132|0.94132	.|P	.|0.46706	.|0.883	.|B	.|0.39419	.|0.299	.|T	.|0.61048	.|-0.7141	.|8	0.22109|0.87932	T|D	0.4|0	-16.3576|-16.3576	9.261|9.261	0.37612|0.37612	0.7227:0.0:0.2773:0.0|0.7227:0.0:0.2773:0.0	.|.	.|371	.|A6NMI8	.|.	X|E	400|371	.|ENSP00000368713:V371E	ENSP00000261721:C400X|ENSP00000368713:V371E	C|V	-|-	3|2	2|0	BTBD1|BTBD1	81478553|81478553	0.990000|0.990000	0.36364|0.36364	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	0.443000|0.443000	0.21644|0.21644	0.026000|0.026000	0.15269|0.15269	0.460000|0.460000	0.39030|0.39030	TGT|GTG	BTBD1	-	pfam_PHR	ENSG00000064726		0.393	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1		0	79	0	A			83687549	-1			no_errors	ENST00000261721	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	T	T	83687549	A	T	83687549	4	4	12	1	0	0	0	0	0	1	0	0	1541	160	6	5	256	5	BTBD1	15	83687549	Nonsense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	28848612	83687549	18843843	342	3445											
RGMA	56963	genome.wustl.edu	37	chr15	93588441	93588441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcccgtggtgaggaggtcGaagacgcaggcctggtagta	8	7	17	9	4	0	2	0	1	0	1	2	4	0	3	2	5	0	3	2	5	3	2	rs373680871		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr15:93588441G>A	ENST00000329082.7	-	4	1411	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000425933.2_Silent_p.F364F|RGMA_ENST00000557301.1_Silent_p.F388F|RGMA_ENST00000556658.1_Silent_p.F271F|RGMA_ENST00000538818.1_Silent_p.F271F|RGMA_ENST00000543599.1_Silent_p.F364F|RGMA_ENST00000542321.2_Silent_p.F364F	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	380					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TGAGGAGGTCGAAGACGCAGG	0.597																																																	0								G	,,,,,	1,4237		0,1,2118	38	42	41		1164,1092,1092,1092,1092,1140	1.5	1	15		41	0,8470		0,0,4235	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RGMA	NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2	,,,,,	0,1,6353	AA,AG,GG		0.0,0.0236,0.0079	,,,,,	388/459,364/435,364/435,364/435,364/435,380/451	93588441	1,12707	2119	4235	6354	SO:0001819	synonymous_variant	0			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1140C>T	15.37:g.93588441G>A			B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	pfam_RGM_N,pfam_RGM_C	p.F380	ENST00000329082.7	37	c.1140	CCDS45357.1	15																																																																																			RGMA	-	pfam_RGM_C	ENSG00000182175		0.597	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	-	0	51	0	G	NM_020211		93588441	-1	tier1	-	no_errors	ENST00000329082	ensembl	human	known	74_37	silent	8.33	66	6	SNP	0.998	A	A	93588441	G	A	93588441	2	1	12	1	0	0	0	0	0	0	0	1	13325	1049	37	1		1	RGMA	15	93588441	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	9900892	93588441	8942951	343	3446											
TELO2	9894	genome.wustl.edu	37	chr16	1547508	1547508	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctggtggaggccgcactgGggtaagcagccaggctgtcc	6	6	18	11	1	0	0	0	0	0	0	1	1	1	1	3	7	2	5	3	7	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:1547508G>C	ENST00000262319.6	+	5	1108	c.829G>C	c.(829-831)Ggg>Cgg	p.G277R		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	277					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGCCGCACTGGGGTAAGCAGC	0.687																																																	0													8	9	8					16																	1547508		2150	4246	6396	SO:0001630	splice_region_variant	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.830+1G>C	16.37:g.1547508G>C			D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.G277R	ENST00000262319.6	37	c.829	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	g	0.142	-1.100979	0.01843	.	.	ENSG00000100726	ENST00000262319	T	0.32515	1.45	5.07	3.09	0.35607	.	0.153244	0.64402	N	0.000019	T	0.20292	0.0488	L	0.36672	1.1	0.46823	D	0.999218	B	0.21821	0.061	B	0.19946	0.027	T	0.05162	-1.0902	10	0.09590	T	0.72	-28.0846	9.7867	0.40681	0.1736:0.0:0.8264:0.0	.	277	Q9Y4R8	TELO2_HUMAN	R	277	ENSP00000262319:G277R	ENSP00000262319:G277R	G	+	1	0	TELO2	1487509	0.997000	0.39634	0.551000	0.28230	0.094000	0.18550	2.560000	0.45896	0.520000	0.28426	0.651000	0.88453	GGG	TELO2	-	NULL	ENSG00000100726		0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	-	0	42	0	G	NM_016111	Missense_Mutation	1547508	1	tier1	-	no_errors	ENST00000262319	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.867	C	C	1547508	G	C	1547508	5	2	12	1	0	0	0	0	0	0	1	0	15804	1246	43	5	843	5	TELO2	16	1547508	Splice_Site	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09		1547508	88807245	344	3447											
ABCA3	21	genome.wustl.edu	37	chr16	2336804	2336804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaacagaaggttgtccaCgacggccagggcagtggctg	9	7	15	10	2	0	2	0	1	0	1	1	3	1	2	2	4	1	3	2	4	2	2	rs537267668		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:2336804C>T	ENST00000301732.5	-	22	3869	c.3169G>A	c.(3169-3171)Gtg>Atg	p.V1057M	ABCA3_ENST00000382381.3_Missense_Mutation_p.V999M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1057					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	AGGTTGTCCACGACGGCCAGG	0.632													C|||	1	0.000199681	0	0	5008	,	,		19190	0		0	False		,,,				2504	0.001																0													123	122	122					16																	2336804		2198	4300	6498	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3169G>A	16.37:g.2336804C>T	ENSP00000301732:p.Val1057Met		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V1057M	ENST00000301732.5	37	c.3169	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483749	0.26598	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.87650	-2.28	4.6	2.63	0.31362	.	0.390642	0.27936	N	0.017254	D	0.84593	0.5506	M	0.69823	2.125	0.80722	D	1	B;B	0.34147	0.438;0.17	B;B	0.35073	0.149;0.195	T	0.82145	-0.0602	10	0.62326	D	0.03	.	8.4711	0.32986	0.1535:0.7645:0.0:0.082	.	1061;1057	Q4LE27;Q99758	.;ABCA3_HUMAN	M	1057;1061	ENSP00000301732:V1057M	ENSP00000301732:V1057M	V	-	1	0	ABCA3	2276805	1.000000	0.71417	0.322000	0.25334	0.215000	0.24574	5.546000	0.67243	0.676000	0.31285	0.555000	0.69702	GTG	ABCA3	-	NULL	ENSG00000167972		0.632	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	-	0	77	0	C	NM_001089		2336804	-1	tier1	-	no_errors	ENST00000301732	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.999	T	T	2336804	C	T	2336804	3	4	12	1	0	0	0	0	1	0	0	0	33	536	19	1	1993	1	ABCA3	16	2336804	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	789296	2336804	88017949	345	3448											
BTBD12	84464	genome.wustl.edu	37	chr16	3642792	3642792	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaacgtgcgggcggcctcGgtgctcacgtcacccagcag	7	5	15	14	5	2	0	2	0	0	0	3	1	2	1	2	4	4	2	2	4	1	0	rs75184268	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:3642792G>T	ENST00000294008.3	-	11	2875	c.2235C>A	c.(2233-2235)acC>acA	p.T745T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	745	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGGCGGCCTCGGTGCTCACGT	0.607								Direct reversal of damage																																									0													68	61	64					16																	3642792		2197	4300	6497	SO:0001819	synonymous_variant	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.2235C>A	16.37:g.3642792G>T			Q69YT8|Q8TF15|Q96JP1	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.T745	ENST00000294008.3	37	c.2235	CCDS10506.2	16																																																																																			SLX4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000188827		0.607	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	-	0	51	0	G	NM_032444		3642792	-1	tier1	-	no_errors	ENST00000294008	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	T	T	3642792	G	T	3642792	2	4	12	1	0	0	0	0	0	0	0	1	1544	1103	39	2		2	BTBD12	16	3642792	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1305988	3642792	86711961	346	3449											
GRIN2A	2903	genome.wustl.edu	37	chr16	9858168	9858168	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccttggttttgtggttcTtactgttgtcaggttccctg	2	20	11	8	0	2	0	1	0	1	0	4	0	4	0	2	3	1	4	2	3	1	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:9858168T>G	ENST00000396573.2	-	14	3542	c.3233A>C	c.(3232-3234)aAg>aCg	p.K1078T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.K1078T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K1078T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K1078T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K1078T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K921T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1078					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTTGTGGTTCTTACTGTTGTC	0.493																																																	0													127	118	121					16																	9858168		2197	4300	6497	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3233A>C	16.37:g.9858168T>G	ENSP00000379818:p.Lys1078Thr		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K1078T	ENST00000396573.2	37	c.3233	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404810	0.62288	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.16597	2.33;2.34;2.36;2.33;2.33	5.28	5.28	0.74379	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.092966	0.85682	D	0.000000	T	0.40839	0.1133	M	0.74258	2.255	0.58432	D	0.999998	D;D;P	0.67145	0.995;0.996;0.945	D;D;P	0.68353	0.928;0.957;0.821	T	0.24512	-1.0158	9	.	.	.	.	14.4152	0.67145	0.0:0.0:0.0:1.0	.	921;1078;1078	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	1078;1078;921;1078;1078	ENSP00000379818:K1078T;ENSP00000385872:K1078T;ENSP00000441572:K921T;ENSP00000332549:K1078T;ENSP00000379820:K1078T	.	K	-	2	0	GRIN2A	9765669	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.437000	0.80417	1.998000	0.58463	0.533000	0.62120	AAG	GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	-	0	73	0	T			9858168	-1	tier1	-	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	35.59	38	21	SNP	1.000	G	G	9858168	T	G	9858168	3	3	12	1	0	0	0	0	1	0	0	0	6806	1609	56	4	1165	4	GRIN2A	16	9858168	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	6215376	9858168	80496585	347	3450											
CDH11	1009	genome.wustl.edu	37	chr16	65026864	65026864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtccttcgaggatactGtacactaacttggcgctatt	8	14	10	9	2	0	0	0	0	0	0	2	2	1	1	1	3	3	3	1	3	4	8			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:65026864G>A	ENST00000268603.4	-	5	1212	c.597C>T	c.(595-597)taC>taT	p.Y199Y	CDH11_ENST00000566827.1_Silent_p.Y73Y|CDH11_ENST00000394156.3_Silent_p.Y199Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	199	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAGGATACTGTACACTAACT	0.428			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													179	143	155					16																	65026864		2203	4300	6503	SO:0001819	synonymous_variant	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.597C>T	16.37:g.65026864G>A			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y199	ENST00000268603.4	37	c.597	CCDS10803.1	16																																																																																			CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.428	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	67	0	G	NM_033664		65026864	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.999	A	A	65026864	G	A	65026864	2	1	12	1	0	0	0	0	0	0	0	1	3104	1372	48	3		3	CDH11	16	65026864	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	55168696	65026864	25327889	348	3451											
KCTD19	146212	genome.wustl.edu	37	chr16	67329211	67329211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagtctcaggaagttgAgaatgtgtcggaacatctgg	11	10	13	7	1	2	1	1	1	2	1	4	4	2	3	1	3	2	1	1	3	4	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:67329211A>G	ENST00000304372.5	-	9	1401	c.1346T>C	c.(1345-1347)cTc>cCc	p.L449P		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	449	BTB 2.				protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CAGGAAGTTGAGAATGTGTCG	0.473																																																	0													79	72	74					16																	67329211		1953	4145	6098	SO:0001583	missense	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1346T>C	16.37:g.67329211A>G	ENSP00000305702:p.Leu449Pro		B4DZ49|Q8N804	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.L449P	ENST00000304372.5	37	c.1346	CCDS42179.1	16	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939563	0.73557	.	.	ENSG00000168676	ENST00000304372	T	0.63744	-0.06	5.5	5.5	0.81552	BTB/POZ fold (2);	0.000000	0.56097	D	0.000033	D	0.83478	0.5263	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87575	0.2480	10	0.87932	D	0	-17.9831	12.9874	0.58599	1.0:0.0:0.0:0.0	.	449	Q17RG1	KCD19_HUMAN	P	449	ENSP00000305702:L449P	ENSP00000305702:L449P	L	-	2	0	KCTD19	65886712	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.064000	0.71169	2.102000	0.63906	0.533000	0.62120	CTC	KCTD19	-	superfamily_BTB/POZ_fold	ENSG00000168676		0.473	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	-	0	96	0	A	XM_085367		67329211	-1	tier1	-	no_errors	ENST00000304372	ensembl	human	known	74_37	missense	13.75	69	11	SNP	1.000	G	G	67329211	A	G	67329211	3	3	12	1	0	0	0	0	1	0	0	0	8133	304	11	4	1466	4	KCTD19	16	67329211	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2302347	67329211	23025542	349	3452											
VPS4A	27183	genome.wustl.edu	37	chr16	69349993	69349993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggctgtaccagcatgCggtggagtacttcctccacg	6	9	13	13	3	0	0	0	0	0	0	2	1	2	1	3	3	5	5	3	3	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:69349993C>T	ENST00000254950.11	+	2	260	c.104C>T	c.(103-105)gCg>gTg	p.A35V	RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.A59V	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TACCAGCATGCGGTGGAGTAC	0.592																																																	0													66	73	70					16																	69349993		2110	4226	6336	SO:0001583	missense	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.104C>T	16.37:g.69349993C>T	ENSP00000254950:p.Ala35Val			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.A35V	ENST00000254950.11	37	c.104	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.050030	0.97236	.	.	ENSG00000132612	ENST00000254950	T	0.81330	-1.48	5.86	5.86	0.93980	MIT (2);	0.000000	0.85682	D	0.000000	D	0.91389	0.7283	H	0.95402	3.665	0.80722	D	1	D	0.60160	0.987	P	0.54590	0.756	D	0.93463	0.6812	10	0.87932	D	0	-19.6358	18.958	0.92668	0.0:1.0:0.0:0.0	.	35	Q9UN37	VPS4A_HUMAN	V	35	ENSP00000254950:A35V	ENSP00000254950:A35V	A	+	2	0	VPS4A	67907494	1.000000	0.71417	0.967000	0.41034	0.954000	0.61252	7.814000	0.86154	2.775000	0.95449	0.655000	0.94253	GCG	VPS4A	-	pfam_MIT,smart_MIT	ENSG00000132612		0.592	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0	55	0	C	NM_013245		69349993	1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	T	T	69349993	C	T	69349993	3	4	12	1	0	0	0	0	1	0	0	0	17261	768	27	1	110	1	VPS4A	16	69349993	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2020782	69349993	21004760	350	3453											
BCAR1	9564	genome.wustl.edu	37	chr16	75269147	75269147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccagcgtctggtgcacGtcctccatcttctgcagctg	5	10	10	16	2	3	0	0	0	3	0	5	0	5	0	4	1	4	3	4	1	0	1	rs201978090		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:75269147G>T	ENST00000162330.5	-	5	1776	c.1650C>A	c.(1648-1650)gaC>gaA	p.D550E	BCAR1_ENST00000393422.2_Missense_Mutation_p.D568E|BCAR1_ENST00000542031.2_Missense_Mutation_p.D548E|BCAR1_ENST00000535626.2_Missense_Mutation_p.D402E|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.D568E|BCAR1_ENST00000538440.2_Missense_Mutation_p.D550E|BCAR1_ENST00000393420.6_Missense_Mutation_p.D568E|BCAR1_ENST00000418647.3_Missense_Mutation_p.D596E|BCAR1_ENST00000546196.1_Missense_Mutation_p.D521E	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	550	Ser-rich.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCTGGTGCACGTCCTCCATCT	0.667																																																	0													34	35	35					16																	75269147		2198	4300	6498	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1650C>A	16.37:g.75269147G>T	ENSP00000162330:p.Asp550Glu		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.D596E	ENST00000162330.5	37	c.1788	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725025	0.30593	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.65	-8.76	0.00830	Serine rich protein interaction (1);	0.120319	0.53938	N	0.000046	T	0.14270	0.0345	L	0.48642	1.525	0.25477	N	0.987777	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.11329	0.006;0.002;0.006;0.002;0.003;0.006;0.001;0.006;0.002	T	0.04509	-1.0946	10	0.46703	T	0.11	-10.8756	5.7973	0.18394	0.6226:0.0916:0.1939:0.0919	.	568;402;596;548;568;568;550;550;340	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	E	550;568;568;550;596;402;568;548;521	ENSP00000162330:D550E;ENSP00000377074:D568E;ENSP00000392708:D568E;ENSP00000443841:D550E;ENSP00000391669:D596E;ENSP00000440370:D402E;ENSP00000377072:D568E;ENSP00000440415:D548E;ENSP00000442161:D521E	ENSP00000162330:D550E	D	-	3	2	BCAR1	73826648	0.000000	0.05858	0.278000	0.24718	0.788000	0.44548	-2.237000	0.01200	-1.859000	0.01156	-0.252000	0.11476	GAC	BCAR1	-	pfam_Serine_rich	ENSG00000050820		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1		0	59	0	G	NM_014567		75269147	-1			no_errors	ENST00000418647	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.364	T	T	75269147	G	T	75269147	3	4	12	1	0	0	0	0	1	0	0	0	1349	1136	40	2	974	2	BCAR1	16	75269147	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	5919154	75269147	15085606	351	3454											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76486645	76486645	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctctaccagccaggaaaaTtacccagtgacatcacagca	15	7	6	13	0	2	1	1	1	1	0	3	2	2	2	3	1	4	1	3	1	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr16:76486645T>G	ENST00000476707.1	+	7	1460	c.1321T>G	c.(1321-1323)Tta>Gta	p.L441V	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L365V|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L437V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L389V			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	438	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCCAGGAAAATTACCCAGTGA	0.418																																																	0													36	37	37					16																	76486645		2198	4300	6498	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1321T>G	16.37:g.76486645T>G	ENSP00000417628:p.Leu441Val		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L437V	ENST00000476707.1	37	c.1309		16	.	.	.	.	.	.	.	.	.	.	T	9.918	1.211273	0.22289	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.34	3.05	0.35203	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	1.363850	0.05871	N	0.624653	T	0.63593	0.2524	.	.	.	0.20563	N	0.999888	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.11329	0.004;0.006;0.006;0.004	T	0.49943	-0.8885	9	0.28530	T	0.3	.	4.0462	0.09774	0.0:0.2546:0.2983:0.4471	.	365;441;413;438	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	V	437;389;365;441	ENSP00000306893:L437V;ENSP00000439733:L389V;ENSP00000418741:L365V;ENSP00000417628:L441V	ENSP00000306893:L437V	L	+	1	2	CNTNAP4	75044146	0.000000	0.05858	0.998000	0.56505	0.998000	0.95712	-0.380000	0.07427	1.053000	0.40415	0.533000	0.62120	TTA	CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.418	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	-	0	58	0	T	NM_033401		76486645	1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	40.00	39	26	SNP	0.972	G	G	76486645	T	G	76486645	3	3	12	1	0	0	0	0	1	0	0	0	3656	1490	52	4	1355	4	CNTNAP4	16	76486645	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1217498	76486645	13868108	352	3455											
TP53	7157	genome.wustl.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49	49	49					17																	7578403		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C176F	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	43	0	C	NM_000546		7578403	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	A	A	7578403	C	A	7578403	3	1	12	1	0	0	0	0	1	0	0	0	16429	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		7578403	73616807	353	3456											
USP43	124739	genome.wustl.edu	37	chr17	9578207	9578207	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgttcttcaccctcacaGatcttccttgacttgtcccc	5	15	4	17	0	5	2	2	1	3	1	7	2	7	2	4	0	0	1	4	0	0	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:9578207G>T	ENST00000285199.7	+	4	836		c.e4-1		USP43_ENST00000570827.2_Splice_Site|USP43_ENST00000570475.1_Splice_Site	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CACCCTCACAGATCTTCCTTG	0.468																																																	0													285	274	277					17																	9578207		2041	4209	6250	SO:0001630	splice_region_variant	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.741-1G>T	17.37:g.9578207G>T			A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Splice_Site	SNP	-	e4-1	ENST00000285199.7	37	c.741-1	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257382	0.59321	.	.	ENSG00000154914	ENST00000285199	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4732	0.61292	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP43	9518932	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.893000	0.92498	1.747000	0.51819	0.467000	0.42956	.	USP43	-	-	ENSG00000154914		0.468	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	-	0	77	0	G	NM_153210	Intron	9578207	1	tier1	-	no_errors	ENST00000285199	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	T	T	9578207	G	T	9578207	5	4	12	1	0	0	0	0	0	0	1	0	17123	956	33	3	754	3	USP43	17	9578207	Splice_Site	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1999804	9578207	71617003	354	3457											
ACCN1	40	genome.wustl.edu	37	chr17	31350878	31350878	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccatgcccactaaacttaCgagatatatttttctgattt	12	16	4	9	1	1	2	0	1	1	1	1	3	1	2	2	0	4	0	2	0	6	8	rs199653464		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:31350878C>T	ENST00000359872.6	-	6	1958		c.e6+1		ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Splice_Site	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	ACTAAACTTACGAGATATATT	0.438																																																	0													125	119	121					17																	31350878		2203	4300	6503	SO:0001630	splice_region_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.1196+1G>A	17.37:g.31350878C>T			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Splice_Site	SNP	-	e6+1	ENST00000359872.6	37	c.1349+1	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710974	0.89112	.	.	ENSG00000108684	ENST00000225823;ENST00000359872	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9714	0.86301	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACCN1	28374991	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.763000	0.85283	1.316000	0.45131	0.453000	0.30009	.	ASIC2	-	-	ENSG00000108684		0.438	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	-	0	52	0	C	NM_183377, NM_001094	Intron	31350878	-1	tier1	rs199653464	no_errors	ENST00000225823	ensembl	human	known	74_37	splice_site	28.57	35	14	SNP	1.000	T	T	31350878	C	T	31350878	5	4	12	1	0	0	0	0	0	0	1	0	128	550	19	1	361	1	ACCN1	17	31350878	Splice_Site	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	21772671	31350878	49844332	355	3458											
COIL	8161	genome.wustl.edu	37	chr17	55027375	55027375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcccccgcatgccccGtcccttagctcccttccaag	5	9	5	22	2	1	0	0	0	1	0	5	0	4	0	8	0	2	2	8	0	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:55027375G>A	ENST00000240316.4	-	2	1262	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	410	2 X 4 AA repeats of S-L-P-A.|Required for interaction with SMN.					Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGCATGCCCCGTCCCTTAGCT	0.522																																																	0													83	84	84					17																	55027375		2203	4300	6503	SO:0001583	missense	0			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.1228C>T	17.37:g.55027375G>A	ENSP00000240316:p.Arg410Trp		B2R931	Missense_Mutation	SNP	NULL	p.R410W	ENST00000240316.4	37	c.1228	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804404	0.50315	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.75	4.78	0.61160	.	0.195815	0.42964	D	0.000634	T	0.76673	0.4020	M	0.68952	2.095	0.41080	D	0.985518	D	0.89917	1.0	D	0.91635	0.999	T	0.79451	-0.1798	9	0.66056	D	0.02	-15.3334	13.799	0.63188	0.0:0.0:0.723:0.277	.	410	P38432	COIL_HUMAN	W	410	.	ENSP00000240316:R410W	R	-	1	2	COIL	52382374	0.998000	0.40836	0.998000	0.56505	0.231000	0.25187	2.999000	0.49473	1.426000	0.47256	-0.261000	0.10672	CGG	COIL	-	NULL	ENSG00000121058		0.522	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	-	0	71	0	G			55027375	-1	tier1	-	no_errors	ENST00000240316	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.994	A	A	55027375	G	A	55027375	3	1	12	1	0	0	0	0	1	0	0	0	3672	1144	40	1	526	1	COIL	17	55027375	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	23676497	55027375	26167835	356	3459											
BZRAP1	9256	genome.wustl.edu	37	chr17	56393449	56393449	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcgccagctgtcagcggaAgctctgcttctggattctca	7	11	10	13	2	4	0	2	0	3	0	6	2	4	2	1	2	4	3	1	2	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:56393449A>C	ENST00000343736.4	-	16	2196	c.2033T>G	c.(2032-2034)cTt>cGt	p.L678R	BZRAP1_ENST00000355701.3_Missense_Mutation_p.L678R|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L618R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	678	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCAGCGGAAGCTCTGCTTC	0.517																																																	0													179	159	166					17																	56393449		2203	4300	6503	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2033T>G	17.37:g.56393449A>C	ENSP00000345824:p.Leu678Arg		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.L678R	ENST00000343736.4	37	c.2033	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	A	23.6	4.441518	0.83993	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.65549	-0.16;-0.16;-0.16	5.69	4.6	0.57074	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	H	0.99156	4.45	0.58432	D	0.999997	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89788	0.3966	10	0.87932	D	0	.	11.1742	0.48590	0.9273:0.0:0.0726:0.0	.	678;618;678	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	R	678;678;618	ENSP00000347929:L678R;ENSP00000345824:L678R;ENSP00000268893:L618R	ENSP00000268893:L618R	L	-	2	0	BZRAP1	53748448	1.000000	0.71417	0.903000	0.35520	0.998000	0.95712	9.335000	0.96500	0.956000	0.37904	0.533000	0.62120	CTT	BZRAP1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000005379		0.517	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0	44	0	A	NM_004758		56393449	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.996	C	C	56393449	A	C	56393449	3	2	12	1	0	0	0	0	1	0	0	0	1581	72	3	4	3604	4	BZRAP1	17	56393449	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1366074	56393449	24801761	357	3460											
CA4	762	genome.wustl.edu	37	chr17	58236636	58236636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgacaaggaacagacaGtgagcatgaaggacaatgtc	17	5	11	8	1	0	3	0	2	0	1	1	6	0	5	0	2	3	1	0	2	5	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:58236636G>T	ENST00000300900.4	+	8	889	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	264					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GGAACAGACAGTGAGCATGAA	0.652																																																	0													35	23	27					17																	58236636		2203	4300	6503	SO:0001583	missense	0			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.790G>T	17.37:g.58236636G>T	ENSP00000300900:p.Val264Leu		B4DQA4|Q6FHI7	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V264L	ENST00000300900.4	37	c.790	CCDS11624.1	17	.	.	.	.	.	.	.	.	.	.	g	0.016	-1.518525	0.00967	.	.	ENSG00000167434	ENST00000300900	T	0.67865	-0.29	3.3	-2.85	0.05734	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.196780	0.06060	N	0.658164	T	0.32285	0.0824	N	0.02708	-0.52	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22208	-1.0223	10	0.07030	T	0.85	.	3.6236	0.08105	0.1598:0.2584:0.4741:0.1077	.	264	P22748	CAH4_HUMAN	L	264	ENSP00000300900:V264L	ENSP00000300900:V264L	V	+	1	0	CA4	55591418	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.709000	0.00819	-0.510000	0.06523	-1.183000	0.01708	GTG	CA4	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000167434		0.652	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	HGNC	protein_coding	OTTHUMT00000449189.1	-	0	95	0	G	NM_000717		58236636	1	tier1	-	no_errors	ENST00000300900	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T	T	58236636	G	T	58236636	3	4	12	1	0	0	0	0	1	0	0	0	2525	1029	36	3	820	3	CA4	17	58236636	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1843187	58236636	22958574	358	3461											
SGSH	6448	genome.wustl.edu	37	chr17	78185909	78185909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctgacttggccccagcGttttgggtgctccggggatg	3	11	15	12	3	0	1	0	1	0	0	2	2	1	2	3	4	2	3	3	4	0	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:78185909G>T	ENST00000326317.6	-	7	996	c.910C>A	c.(910-912)Cgc>Agc	p.R304S	SGSH_ENST00000534910.1_Missense_Mutation_p.R101S|SGSH_ENST00000570923.1_3'UTR|SGSH_ENST00000572208.1_5'Flank	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	304			R -> L. {ECO:0000269|PubMed:17128482}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGCCCCAGCGTTTTGGGTGC	0.622																																																	0													76	63	67					17																	78185909		2203	4300	6503	SO:0001583	missense	0			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.910C>A	17.37:g.78185909G>T	ENSP00000314606:p.Arg304Ser		A8K5E2	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R304S	ENST00000326317.6	37	c.910	CCDS11770.1	17	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854795	0.71719	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.98493	-4.96;-4.96	4.62	4.62	0.57501	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98660	1.0683	10	0.15952	T	0.53	-40.3214	17.0355	0.86474	0.0:0.0:1.0:0.0	.	304	P51688	SPHM_HUMAN	S	304;101	ENSP00000314606:R304S;ENSP00000437778:R101S	ENSP00000314606:R304S	R	-	1	0	SGSH	75800504	1.000000	0.71417	0.912000	0.35992	0.522000	0.34438	7.660000	0.83776	2.115000	0.64714	0.557000	0.71058	CGC	SGSH	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000181523		0.622	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSH	HGNC	protein_coding	OTTHUMT00000437695.1		0	46	0	G	NM_000199		78185909	-1			no_errors	ENST00000326317	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.998	T	T	78185909	G	T	78185909	3	4	12	1	0	0	0	0	1	0	0	0	14266	1145	40	2	606	2	SGSH	17	78185909	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	19949273	78185909	3009301	359	3462											
CCDC57	284001	genome.wustl.edu	37	chr17	80141648	80141648	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatctgcctggggacagttAcctttcaatgtcctgctggg	7	12	11	11	0	2	0	1	0	1	0	3	1	3	1	3	3	3	2	3	3	2	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr17:80141648A>T	ENST00000389641.4	-	8	1248		c.e8+1		CCDC57_ENST00000392343.3_Splice_Site|CCDC57_ENST00000392347.1_Splice_Site|CCDC57_ENST00000327026.3_Splice_Site			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57											endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGGGACAGTTACCTTTCAATG	0.517																																																	0													65	63	64					17																	80141648		1984	4137	6121	SO:0001630	splice_region_variant	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.1211+1T>A	17.37:g.80141648A>T			A6NP51|A8MQC7|Q8IWG2|Q8TER3	Splice_Site	SNP	-	e7+2	ENST00000389641.4	37	c.1211+2		17	.	.	.	.	.	.	.	.	.	.	A	28.0	4.879657	0.91740	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9186	0.47150	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC57	77734937	1.000000	0.71417	0.622000	0.29159	0.969000	0.65631	5.432000	0.66514	1.883000	0.54544	0.377000	0.23210	.	CCDC57	-	-	ENSG00000176155		0.517	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	-	0	64	0	A	NM_198082	Intron	80141648	-1	tier1	-	no_errors	ENST00000389641	ensembl	human	known	74_37	splice_site	10.20	44	5	SNP	0.945	T	T	80141648	A	T	80141648	5	4	12	1	0	0	0	0	0	0	1	0	2834	405	14	5	1574	5	CCDC57	17	80141648	Splice_Site	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1955739	80141648	1053562	360	3463											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6171934	6171934	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttatggtcccaaccatcaAaatgaacctgttaaaacgag	16	9	6	10	1	1	1	1	1	0	0	2	2	2	1	3	1	3	1	3	1	7	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:6171934A>C	ENST00000284898.6	-	13	1189	c.989T>G	c.(988-990)tTt>tGt	p.F330C	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.F330C|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.F330C|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.F330C|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.F143C	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	330					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCAACCATCAAAATGAACCTG	0.418																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													70	57	62					18																	6171934		2198	4285	6483	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.989T>G	18.37:g.6171934A>C	ENSP00000284898:p.Phe330Cys		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.F330C	ENST00000284898.6	37	c.989	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979841	0.74360	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.54	5.54	0.83059	.	0.165227	0.42294	D	0.000737	T	0.79003	0.4373	H	0.94306	3.52	0.47621	D	0.999479	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84454	0.0590	10	0.87932	D	0	.	12.0746	0.53636	1.0:0.0:0.0:0.0	.	330;330	Q8NA19;F8W9S8	LMBL4_HUMAN;.	C	330;330;330;143;330	ENSP00000382976:F330C;ENSP00000318543:F330C;ENSP00000284898:F330C;ENSP00000444774:F143C;ENSP00000382975:F330C	ENSP00000284898:F330C	F	-	2	0	L3MBTL4	6161934	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.271000	0.58902	2.108000	0.64289	0.528000	0.53228	TTT	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.418	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	44	0	A	NM_173464		6171934	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	C	C	6171934	A	C	6171934	3	2	12	1	0	0	0	0	1	0	0	0	8622	14	1	4	914	4	L3MBTL4	18	6171934	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09		6171934	71905314	361	3464											
LAMA1	284217	genome.wustl.edu	37	chr18	6983112	6983112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccaggctcgtctcagTcacagtcctgtgagcatctc	7	11	8	15	1	3	1	2	1	2	0	8	1	5	1	3	1	2	2	3	1	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:6983112T>G	ENST00000389658.3	-	40	5875	c.5782A>C	c.(5782-5784)Act>Cct	p.T1928P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1928	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCGTCTCAGTCACAGTCCTG	0.512																																																	0													108	102	104					18																	6983112		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5782A>C	18.37:g.6983112T>G	ENSP00000374309:p.Thr1928Pro			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T1928P	ENST00000389658.3	37	c.5782	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	T	9.752	1.167815	0.21621	.	.	ENSG00000101680	ENST00000389658	T	0.18016	2.24	5.23	-0.0157	0.13975	.	1.213800	0.05797	N	0.611522	T	0.11495	0.0280	N	0.22421	0.69	0.09310	N	1	B	0.28208	0.203	B	0.27608	0.081	T	0.37079	-0.9721	10	0.35671	T	0.21	.	6.2699	0.20949	0.0:0.2117:0.1257:0.6626	.	1928	P25391	LAMA1_HUMAN	P	1928	ENSP00000374309:T1928P	ENSP00000374309:T1928P	T	-	1	0	LAMA1	6973112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.480000	0.22244	0.394000	0.25230	0.528000	0.53228	ACT	LAMA1	-	NULL	ENSG00000101680		0.512	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	105	0	T	NM_005559		6983112	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	9.82	101	11	SNP	0.000	G	G	6983112	T	G	6983112	3	3	12	1	0	0	0	0	1	0	0	0	8633	1667	58	4	3541	4	LAMA1	18	6983112	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	811178	6983112	71094136	362	3465											
LAMA1	284217	genome.wustl.edu	37	chr18	7010267	7010267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcatccatgtaaatgaCttgctttctgatccgaccac	9	13	8	11	1	1	2	0	2	1	0	3	3	3	2	3	1	2	3	3	1	2	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:7010267C>G	ENST00000389658.3	-	26	3898	c.3805G>C	c.(3805-3807)Gtc>Ctc	p.V1269L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1269	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATGTAAATGACTTGCTTTCTG	0.458																																																	0													185	160	169					18																	7010267		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3805G>C	18.37:g.7010267C>G	ENSP00000374309:p.Val1269Leu			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.V1269L	ENST00000389658.3	37	c.3805	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789800	0.70337	.	.	ENSG00000101680	ENST00000389658	T	0.36878	1.23	5.57	3.75	0.43078	Laminin B type IV (2);Laminin B, subgroup (1);	0.194186	0.43260	D	0.000596	T	0.26376	0.0644	L	0.36672	1.1	0.42293	D	0.992142	P	0.38300	0.626	B	0.33121	0.158	T	0.07028	-1.0794	10	0.36615	T	0.2	.	12.7101	0.57083	0.0:0.8628:0.0:0.1372	.	1269	P25391	LAMA1_HUMAN	L	1269	ENSP00000374309:V1269L	ENSP00000374309:V1269L	V	-	1	0	LAMA1	7000267	0.990000	0.36364	0.969000	0.41365	0.967000	0.64934	2.909000	0.48758	1.335000	0.45486	0.579000	0.79373	GTC	LAMA1	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000101680		0.458	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	76	0	C	NM_005559		7010267	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	5.05	94	5	SNP	0.979	G	G	7010267	C	G	7010267	3	3	12	1	0	0	0	0	1	0	0	0	8633	565	20	5	5574	5	LAMA1	18	7010267	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	27155	7010267	71066981	363	3466											
LAMA1	284217	genome.wustl.edu	37	chr18	7038890	7038890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagccccgggggtttttTtccttcaagttatagaatcc	8	13	10	10	1	1	1	1	0	0	1	3	2	3	1	4	2	2	3	4	2	4	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:7038890T>G	ENST00000389658.3	-	11	1575	c.1482A>C	c.(1480-1482)gaA>gaC	p.E494D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	494	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGGGGTTTTTTTCCTTCAAGT	0.517																																																	0													81	95	90					18																	7038890		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1482A>C	18.37:g.7038890T>G	ENSP00000374309:p.Glu494Asp			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E494D	ENST00000389658.3	37	c.1482	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	T	4.692	0.128606	0.08981	.	.	ENSG00000101680	ENST00000389658	T	0.62105	0.05	4.88	-9.77	0.00500	EGF-like, laminin (4);	0.191551	0.42821	D	0.000660	T	0.47875	0.1469	M	0.66297	2.02	0.19945	N	0.999948	B	0.14438	0.01	B	0.16722	0.016	T	0.19910	-1.0291	10	0.20519	T	0.43	.	11.1281	0.48330	0.0:0.5106:0.1719:0.3174	.	494	P25391	LAMA1_HUMAN	D	494	ENSP00000374309:E494D	ENSP00000374309:E494D	E	-	3	2	LAMA1	7028890	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.945000	0.03909	-2.430000	0.00557	-2.529000	0.00182	GAA	LAMA1	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000101680		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	65	0	T	NM_005559		7038890	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	61.80	34	55	SNP	0.000	G	G	7038890	T	G	7038890	3	3	12	1	0	0	0	0	1	0	0	0	8633	1838	64	4	7957	4	LAMA1	18	7038890	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	28623	7038890	71038358	364	3467											
DSG3	1830	genome.wustl.edu	37	chr18	29055707	29055707	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccactggttctcctgtGggctccgtgggttgttgcag	3	13	15	10	1	1	0	0	0	1	0	3	1	2	0	3	3	2	5	3	3	0	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:29055707G>T	ENST00000257189.4	+	16	2567	c.2484G>T	c.(2482-2484)gtG>gtT	p.V828V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	828					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTCTCCTGTGGGCTCCGTGG	0.473																																																	0													128	120	123					18																	29055707		2203	4300	6503	SO:0001819	synonymous_variant	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2484G>T	18.37:g.29055707G>T			A8K2V2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.V828	ENST00000257189.4	37	c.2484	CCDS11898.1	18																																																																																			DSG3	-	pfam_Cadherin_cytoplasmic-dom,prints_Desmoglein,prints_Desmosomal_cadherin	ENSG00000134757		0.473	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1		0	54	0	G	NM_001944		29055707	1			no_errors	ENST00000257189	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.003	T	T	29055707	G	T	29055707	2	4	12	1	0	0	0	0	0	0	0	1	4792	1335	47	3		3	DSG3	18	29055707	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	22016817	29055707	49021541	365	3468											
ASXL3	80816	genome.wustl.edu	37	chr18	31323952	31323952	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagccatacctgggagtgaAgaacaggccactgtatccat	13	8	10	10	0	0	2	0	1	0	1	1	3	1	3	4	2	3	1	4	2	5	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:31323952A>G	ENST00000269197.5	+	12	4140	c.4140A>G	c.(4138-4140)gaA>gaG	p.E1380E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGGGAGTGAAGAACAGGCCA	0.507											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95	98	97					18																	31323952		1980	4158	6138	SO:0001819	synonymous_variant	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.4140A>G	18.37:g.31323952A>G		823	Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.E1380	ENST00000269197.5	37	c.4140	CCDS45847.1	18																																																																																			ASXL3	-	NULL	ENSG00000141431		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	39	0	A			31323952	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.966	G	G	31323952	A	G	31323952	2	3	12	1	0	0	0	0	0	0	0	1	1069	69	3	4		4	ASXL3	18	31323952	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2268245	31323952	46753296	366	3469											
MC4R	4160	genome.wustl.edu	37	chr18	58039107	58039107	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcttaactgtcataatgTtatggtactggagagcatag	11	12	10	8	1	1	1	1	0	0	1	1	2	1	1	1	2	3	4	1	2	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:58039107T>G	ENST00000299766.3	-	1	894	c.476A>C	c.(475-477)aAc>aCc	p.N159T		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	159					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGTCATAATGTTATGGTACTG	0.438																																																	0													93	84	87					18																	58039107		2203	4300	6503	SO:0001583	missense	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.476A>C	18.37:g.58039107T>G	ENSP00000299766:p.Asn159Thr		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.N159T	ENST00000299766.3	37	c.476	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508428	0.44660	.	.	ENSG00000166603	ENST00000299766	T	0.19105	2.17	5.65	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.044253	0.85682	D	0.000000	T	0.19366	0.0465	L	0.45228	1.405	0.53005	D	0.999965	B	0.09022	0.002	B	0.20184	0.028	T	0.04140	-1.0974	10	0.62326	D	0.03	.	10.6036	0.45381	0.0:0.0:0.1612:0.8388	.	159	P32245	MC4R_HUMAN	T	159	ENSP00000299766:N159T	ENSP00000299766:N159T	N	-	2	0	MC4R	56190087	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.798000	0.47884	2.154000	0.67381	0.533000	0.62120	AAC	MC4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt	ENSG00000166603		0.438	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	-	0	53	0	T	NM_005912		58039107	-1	tier1	-	no_errors	ENST00000299766	ensembl	human	known	74_37	missense	41.94	18	13	SNP	1.000	G	G	58039107	T	G	58039107	3	3	12	1	0	0	0	0	1	0	0	0	9404	1725	60	4	526	4	MC4R	18	58039107	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	26715155	58039107	20038141	367	3470											
CDH7	1005	genome.wustl.edu	37	chr18	63526247	63526247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaatttgccatggactatGagaccaccgtctgtgaaaat	12	11	9	9	1	1	3	0	3	1	1	1	5	1	4	3	1	1	0	3	1	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:63526247G>A	ENST00000397968.2	+	9	1885	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	CDH7_ENST00000323011.3_Missense_Mutation_p.E487K|CDH7_ENST00000536984.2_Missense_Mutation_p.E487K	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CATGGACTATGAGACCACCGT	0.428																																																	0													82	79	80					18																	63526247		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1459G>A	18.37:g.63526247G>A	ENSP00000381058:p.Glu487Lys		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E487K	ENST00000397968.2	37	c.1459	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.549950	0.96501	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.52295	0.67;0.67;0.67	5.32	5.32	0.75619	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.90650	3.135	0.80722	D	1	D;P	0.67145	0.996;0.925	D;P	0.65874	0.939;0.572	T	0.80466	-0.1370	10	0.87932	D	0	.	19.347	0.94367	0.0:0.0:1.0:0.0	.	487;487	F5H5X9;Q9ULB5	.;CADH7_HUMAN	K	487	ENSP00000319166:E487K;ENSP00000443030:E487K;ENSP00000381058:E487K	ENSP00000319166:E487K	E	+	1	0	CDH7	61677227	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.666000	0.98612	2.648000	0.89879	0.467000	0.42956	GAG	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000081138		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2		0	32	0	G	NM_033646		63526247	1			no_errors	ENST00000323011	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	63526247	G	A	63526247	3	1	12	1	0	0	0	0	1	0	0	0	3122	1291	45	3	1489	3	CDH7	18	63526247	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	5487140	63526247	14551001	368	3471											
NETO1	81832	genome.wustl.edu	37	chr18	70451035	70451035	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagccacagtgctacagaacTtagctttcaaatcctccacg	12	10	6	13	1	1	1	1	0	0	1	3	1	3	1	3	0	5	2	3	0	5	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:70451035T>G	ENST00000327305.6	-	7	1403	c.746A>C	c.(745-747)aAg>aCg	p.K249T	NETO1_ENST00000299430.2_Missense_Mutation_p.K248T|NETO1_ENST00000583169.1_Missense_Mutation_p.K249T	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	249	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCTACAGAACTTAGCTTTCAA	0.473																																																	0													194	166	175					18																	70451035		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.746A>C	18.37:g.70451035T>G	ENSP00000313088:p.Lys249Thr		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.K249T	ENST00000327305.6	37	c.746	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	T	20.4	3.991711	0.74703	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.20069	2.1;2.1	5.27	5.27	0.74061	CUB (5);	0.000000	0.64402	D	0.000006	T	0.42494	0.1205	L	0.55990	1.75	0.80722	D	1	D;P	0.76494	0.999;0.771	D;P	0.80764	0.994;0.449	T	0.33033	-0.9884	10	0.87932	D	0	-6.0763	15.5016	0.75703	0.0:0.0:0.0:1.0	.	248;249	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	T	249;248	ENSP00000313088:K249T;ENSP00000299430:K248T	ENSP00000299430:K248T	K	-	2	0	NETO1	68602015	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	7.997000	0.88414	2.102000	0.63906	0.528000	0.53228	AAG	NETO1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000166342		0.473	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0	51	0	T	NM_138999		70451035	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	40.00	12	8	SNP	1.000	G	G	70451035	T	G	70451035	3	3	12	1	0	0	0	0	1	0	0	0	10378	1609	56	4	871	4	NETO1	18	70451035	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	6924788	70451035	7626213	369	3472											
NETO1	81832	genome.wustl.edu	37	chr18	70526302	70526302	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttcaatgcactgtctTggagcggctgtaaagaagaa	14	10	11	6	1	2	2	1	0	1	2	2	3	2	3	0	2	2	4	0	2	7	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:70526302T>G	ENST00000327305.6	-	4	885	c.228A>C	c.(226-228)ccA>ccC	p.P76P	NETO1_ENST00000397929.1_Silent_p.P75P|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Silent_p.P76P|NETO1_ENST00000299430.2_Silent_p.P75P	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	76	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGCACTGTCTTGGAGCGGCTG	0.368																																																	0													56	56	56					18																	70526302		2203	4300	6503	SO:0001819	synonymous_variant	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.228A>C	18.37:g.70526302T>G			Q86W85|Q8ND78|Q8TDF4	Silent	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.P76	ENST00000327305.6	37	c.228	CCDS12000.1	18																																																																																			NETO1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000166342		0.368	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0	57	0	T	NM_138999		70526302	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	silent	24.14	22	7	SNP	0.976	G	G	70526302	T	G	70526302	2	3	12	1	0	0	0	0	0	0	0	1	10378	1799	63	4		4	NETO1	18	70526302	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	75267	70526302	7550946	370	3473											
ZNF407	55628	genome.wustl.edu	37	chr18	72775418	72775418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggccaggtcatcgccaCgagtcagagcggggcacatg	9	5	16	11	3	2	1	2	0	0	1	3	3	2	2	2	5	1	1	2	5	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:72775418C>T	ENST00000299687.5	+	8	5741	c.5741C>T	c.(5740-5742)aCg>aTg	p.T1914M		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1914					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GTCATCGCCACGAGTCAGAGC	0.706																																																	0													12	15	14					18																	72775418		2180	4265	6445	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5741C>T	18.37:g.72775418C>T	ENSP00000299687:p.Thr1914Met		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.T1914M	ENST00000299687.5	37	c.5741	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292118	0.23564	.	.	ENSG00000215421	ENST00000299687	T	0.14022	2.54	4.83	4.83	0.62350	.	.	.	.	.	T	0.21186	0.0510	L	0.40543	1.245	0.28869	N	0.89509	D	0.76494	0.999	P	0.53185	0.72	T	0.32107	-0.9919	9	0.87932	D	0	.	11.4498	0.50145	0.0:0.9175:0.0:0.0825	.	1914	Q9C0G0	ZN407_HUMAN	M	1914	ENSP00000299687:T1914M	ENSP00000299687:T1914M	T	+	2	0	ZNF407	70904406	0.959000	0.32827	0.000000	0.03702	0.007000	0.05969	5.335000	0.65929	-1.715000	0.01389	-2.223000	0.00295	ACG	ZNF407	-	NULL	ENSG00000215421		0.706	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0	86	0	C	NM_017757		72775418	1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.000	T	T	72775418	C	T	72775418	3	4	12	1	0	0	0	0	1	0	0	0	17935	536	19	1	5901	1	ZNF407	18	72775418	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2249116	72775418	5301830	371	3474											
ZNF407	55628	genome.wustl.edu	37	chr18	72776180	72776180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttctccgagggcaccaCgcactacatcctgacagagc	9	6	10	16	3	1	2	0	1	1	1	3	3	2	2	3	2	2	3	3	2	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:72776180C>T	ENST00000299687.5	+	8	6503	c.6503C>T	c.(6502-6504)aCg>aTg	p.T2168M		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGGCACCACGCACTACATC	0.657																																																	0													22	28	26					18																	72776180		2152	4260	6412	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6503C>T	18.37:g.72776180C>T	ENSP00000299687:p.Thr2168Met		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.T2168M	ENST00000299687.5	37	c.6503	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	c	12.27	1.887942	0.33348	.	.	ENSG00000215421	ENST00000299687	T	0.20598	2.06	4.63	4.63	0.57726	.	.	.	.	.	T	0.48768	0.1518	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.32161	-0.9917	9	0.87932	D	0	.	17.4935	0.87711	0.0:1.0:0.0:0.0	.	2168	Q9C0G0	ZN407_HUMAN	M	2168	ENSP00000299687:T2168M	ENSP00000299687:T2168M	T	+	2	0	ZNF407	70905168	0.995000	0.38212	0.044000	0.18714	0.188000	0.23474	4.352000	0.59404	-2.757000	0.00371	-0.461000	0.05368	ACG	ZNF407	-	NULL	ENSG00000215421		0.657	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0	60	0	C	NM_017757		72776180	1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.031	T	T	72776180	C	T	72776180	3	4	12	1	0	0	0	0	1	0	0	0	17935	536	19	1	6663	1	ZNF407	18	72776180	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	762	72776180	5301068	372	3475											
ZNF516	9658	genome.wustl.edu	37	chr18	74154913	74154913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagatgcagcaggtgtggCaggtagccttgtccccatcc	7	8	13	13	1	0	1	0	0	0	1	2	1	2	1	4	3	3	5	4	3	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:74154913C>T	ENST00000443185.2	-	3	415	c.98G>A	c.(97-99)tGc>tAc	p.C33Y	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGGTGTGGCAGGTAGCCTT	0.657																																																	0													38	47	44					18																	74154913		2178	4273	6451	SO:0001583	missense	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.98G>A	18.37:g.74154913C>T	ENSP00000394757:p.Cys33Tyr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C33Y	ENST00000443185.2	37	c.98		18	.	.	.	.	.	.	.	.	.	.	C	8.140	0.784999	0.16189	.	.	ENSG00000101493	ENST00000443185;ENST00000532857	T;T	0.06528	3.29;3.29	4.75	3.86	0.44501	.	0.158047	0.44285	D	0.000477	T	0.05410	0.0143	.	.	.	0.09310	N	1	P	0.51653	0.947	B	0.41374	0.355	T	0.35674	-0.9779	9	0.38643	T	0.18	-26.6264	6.9968	0.24786	0.3305:0.5896:0.0:0.08	.	33	Q92618	ZN516_HUMAN	Y	33	ENSP00000394757:C33Y;ENSP00000446211:C33Y	ENSP00000394757:C33Y	C	-	2	0	ZNF516	72283901	0.852000	0.29690	0.323000	0.25347	0.081000	0.17604	2.297000	0.43593	1.089000	0.41292	0.561000	0.74099	TGC	ZNF516	-	NULL	ENSG00000101493		0.657	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding			0	55	0	C	NM_014643		74154913	-1			no_errors	ENST00000443185	ensembl	human	known	74_37	missense	6.35	58	4	SNP	0.003	T	T	74154913	C	T	74154913	3	4	12	1	0	0	0	0	1	0	0	0	18008	710	25	3	3414	3	ZNF516	18	74154913	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1378733	74154913	3922335	373	3476											
SALL3	27164	genome.wustl.edu	37	chr18	76753580	76753580	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtccgtggggctgcaacTgccgcccactgtccctggcg	4	7	13	17	4	0	0	0	0	0	0	2	0	2	0	4	3	3	2	4	3	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:76753580T>G	ENST00000537592.2	+	2	1589	c.1589T>G	c.(1588-1590)cTg>cGg	p.L530R	SALL3_ENST00000536229.3_Missense_Mutation_p.L397R|SALL3_ENST00000575389.2_Missense_Mutation_p.L530R	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	530					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGGCTGCAACTGCCGCCCACT	0.736																																																	0													14	12	13					18																	76753580		2182	4276	6458	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1589T>G	18.37:g.76753580T>G	ENSP00000441823:p.Leu530Arg		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L530R	ENST00000537592.2	37	c.1589	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	T	9.486	1.099493	0.20552	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10005	2.92	5.39	5.39	0.77823	.	0.000000	0.48767	D	0.000164	T	0.36413	0.0966	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.21042	-1.0257	10	0.27785	T	0.31	-41.6958	15.4294	0.75081	0.0:0.0:0.0:1.0	.	262;530	F5GXY4;Q9BXA9	.;SALL3_HUMAN	R	530;530;262	ENSP00000441823:L530R	ENSP00000299466:L530R	L	+	2	0	SALL3	74854568	1.000000	0.71417	0.961000	0.40146	0.260000	0.26232	7.972000	0.88022	2.034000	0.60081	0.460000	0.39030	CTG	SALL3	-	NULL	ENSG00000256463		0.736	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	-	0	54	0	T	NM_171999		76753580	1	tier1	-	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.999	G	G	76753580	T	G	76753580	3	3	12	1	0	0	0	0	1	0	0	0	13857	1580	55	4	1595	4	SALL3	18	76753580	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	2598667	76753580	1323668	374	3477											
ATP9B	374868	genome.wustl.edu	37	chr18	77097384	77097384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgctgtgcctcaccggcGtggaggaccagctgcaggca	8	6	14	13	2	1	0	1	0	0	0	1	2	1	2	3	4	5	4	3	4	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:77097384G>A	ENST00000426216.2	+	19	2235	c.2218G>A	c.(2218-2220)Gtg>Atg	p.V740M	ATP9B_ENST00000543761.1_Missense_Mutation_p.V61M|RP11-800A18.4_ENST00000592906.1_RNA|ATP9B_ENST00000307671.7_Missense_Mutation_p.V740M	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	740					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CCTCACCGGCGTGGAGGACCA	0.647																																																	0													105	91	95					18																	77097384		2203	4300	6503	SO:0001583	missense	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.2218G>A	18.37:g.77097384G>A	ENSP00000398076:p.Val740Met		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V740M	ENST00000426216.2	37	c.2218	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092445	0.76756	.	.	ENSG00000166377	ENST00000426216;ENST00000307671;ENST00000543761	T;T;D	0.99080	-0.28;-0.28;-5.4	5.36	5.36	0.76844	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.97960	1.0337	10	0.87932	D	0	.	19.1091	0.93310	0.0:0.0:1.0:0.0	.	61;740;740	F5H8J1;O43861;O43861-2	.;ATP9B_HUMAN;.	M	740;740;61	ENSP00000398076:V740M;ENSP00000304500:V740M;ENSP00000442015:V61M	ENSP00000304500:V740M	V	+	1	0	ATP9B	75198372	1.000000	0.71417	0.940000	0.37924	0.370000	0.29829	9.113000	0.94321	2.512000	0.84698	0.655000	0.94253	GTG	ATP9B	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000166377		0.647	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3	-	0	46	0	G	NM_198531		77097384	1	tier1	-	no_errors	ENST00000426216	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	A	A	77097384	G	A	77097384	3	1	12	1	0	0	0	0	1	0	0	0	1200	1145	40	1	2292	1	ATP9B	18	77097384	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	343804	77097384	979864	375	3478											
C18orf22	79863	genome.wustl.edu	37	chr18	77805976	77805976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagagggccaagcccCgcctggagcaggacagctcc	11	2	15	13	1	0	1	0	0	0	1	1	5	1	4	5	4	3	2	5	4	3	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr18:77805976C>T	ENST00000306735.5	+	7	991	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	RBFA_ENST00000262197.7_3'UTR|RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	285					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGCCAAGCCCCGCCTGGAGCA	0.597																																																	0													74	73	73					18																	77805976		2203	4300	6503	SO:0001583	missense	0			BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 22"	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.853C>T	18.37:g.77805976C>T	ENSP00000305696:p.Arg285Cys		Q6PF07|Q8WZ65|Q9H776	Missense_Mutation	SNP	pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom	p.R285C	ENST00000306735.5	37	c.853	CCDS12021.1	18	.	.	.	.	.	.	.	.	.	.	C	8.145	0.786094	0.16189	.	.	ENSG00000101546	ENST00000306735	T	0.26373	1.74	4.05	-1.62	0.08372	.	1.234610	0.05732	N	0.599675	T	0.12902	0.0313	N	0.17474	0.49	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.25882	-1.0119	10	0.38643	T	0.18	-1.7111	0.8253	0.01119	0.1619:0.3662:0.1584:0.3136	.	285	Q8N0V3	RBFA_HUMAN	C	285	ENSP00000305696:R285C	ENSP00000305696:R285C	R	+	1	0	RBFA	75906964	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.210000	0.09345	-0.479000	0.06813	-0.150000	0.13652	CGC	RBFA	-	NULL	ENSG00000101546		0.597	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBFA	HGNC	protein_coding	OTTHUMT00000256436.2	-	0	54	0	C	NM_024805		77805976	1	tier1	-	no_errors	ENST00000306735	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.000	T	T	77805976	C	T	77805976	3	4	12	1	0	0	0	0	1	0	0	0	1905	652	23	1	879	1	C18orf22	18	77805976	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	708592	77805976	271272	376	3479											
ZFR2	23217	genome.wustl.edu	37	chr19	3819165	3819165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccaggagctcctgctcCgtggggtagatggtggcgtg	5	8	18	10	3	0	1	0	0	0	1	2	2	2	2	3	6	2	3	3	6	1	1	rs558923847		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:3819165C>T	ENST00000262961.4	-	12	1819	c.1809G>A	c.(1807-1809)acG>acA	p.T603T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	603	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GCTCCTGCTCCGTGGGGTAGA	0.726													C|||	1	0.000199681	0	0	5008	,	,		14995	0		0	False		,,,				2504	0.001																0													20	24	23					19																	3819165		2013	4150	6163	SO:0001819	synonymous_variant	0			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1809G>A	19.37:g.3819165C>T				Silent	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.T603	ENST00000262961.4	37	c.1809	CCDS45921.1	19																																																																																			ZFR2	-	NULL	ENSG00000105278		0.726	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	-	0	27	0	C	NM_015174		3819165	-1	tier1	-	no_errors	ENST00000262961	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.508	T	T	3819165	C	T	3819165	2	4	12	1	0	0	0	0	0	0	0	1	17708	639	23	1		1	ZFR2	19	3819165	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		3819165	55309818	377	3480											
SIRT6	51548	genome.wustl.edu	37	chr19	4175147	4175147	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatggacaggtcggcgtTcctggggccggggagcgtgg	4	7	21	9	5	0	1	0	1	0	0	2	3	1	3	2	8	1	1	2	8	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:4175147T>A	ENST00000337491.2	-	7	680	c.616A>T	c.(616-618)Aac>Tac	p.N206Y	SIRT6_ENST00000305232.6_Splice_Site_p.N179Y|SIRT6_ENST00000381935.3_Splice_Site_p.N134Y|SIRT6_ENST00000601488.1_Intron|SIRT6_ENST00000594279.1_Intron	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	206	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCGGCGTTCCTGGGGCCG	0.692																																																	0													19	18	18					19																	4175147		2199	4298	6497	SO:0001630	splice_region_variant	0			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.615-1A>T	19.37:g.4175147T>A			B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.N206Y	ENST00000337491.2	37	c.616	CCDS12122.1	19	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404093	0.42613	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.43688	0.94;2.24;0.94	4.63	4.63	0.57726	.	0.534882	0.20065	N	0.099998	T	0.49133	0.1539	M	0.72118	2.19	0.25856	N	0.983887	B;B	0.33694	0.421;0.389	B;B	0.40477	0.044;0.33	T	0.51779	-0.8662	10	0.66056	D	0.02	-21.8784	12.8482	0.57842	0.0:0.0:0.0:1.0	.	179;206	Q8N6T7-2;Q8N6T7	.;SIRT6_HUMAN	Y	206;179;134	ENSP00000337332:N206Y;ENSP00000305310:N179Y;ENSP00000371360:N134Y	ENSP00000305310:N179Y	N	-	1	0	SIRT6	4126147	1.000000	0.71417	0.990000	0.47175	0.695000	0.40330	2.633000	0.46519	1.723000	0.51488	0.379000	0.24179	AAC	SIRT6	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000077463		0.692	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT6	HGNC	protein_coding	OTTHUMT00000457931.2	-	0	26	0	T		Missense_Mutation	4175147	-1	tier1	-	no_errors	ENST00000337491	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.991	A	A	4175147	T	A	4175147	5	1	12	1	0	0	0	0	0	0	1	0	14387	1797	62	5	459	5	SIRT6	19	4175147	Splice_Site	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	355982	4175147	54953836	378	3481											
PLIN4	729359	genome.wustl.edu	37	chr19	4511303	4511303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttagtgccagtcaggAcagactttgtagtgtccagg	9	12	11	9	0	2	1	1	0	1	1	3	2	3	2	2	2	1	1	2	2	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:4511303A>G	ENST00000301286.3	-	3	2626	c.2627T>C	c.(2626-2628)gTc>gCc	p.V876A		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	876	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCAGTCAGGACAGACTTTGT	0.597																																																	0													95	102	100					19																	4511303		1955	4127	6082	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2627T>C	19.37:g.4511303A>G	ENSP00000301286:p.Val876Ala		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.V876A	ENST00000301286.3	37	c.2627	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501263	0.64298	.	.	ENSG00000167676	ENST00000301286	T	0.06608	3.28	4.93	4.93	0.64822	.	0.000000	0.39210	N	0.001430	T	0.17831	0.0428	M	0.73753	2.245	0.09310	N	1	D	0.71674	0.998	D	0.67548	0.952	T	0.11324	-1.0592	10	0.07482	T	0.82	-12.8716	10.9537	0.47345	1.0:0.0:0.0:0.0	.	876	Q96Q06	PLIN4_HUMAN	A	876	ENSP00000301286:V876A	ENSP00000301286:V876A	V	-	2	0	PLIN4	4462303	0.003000	0.15002	0.004000	0.12327	0.019000	0.09904	1.324000	0.33712	1.844000	0.53588	0.379000	0.24179	GTC	PLIN4	-	NULL	ENSG00000167676		0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0	111	0	A	XM_170901		4511303	-1	tier1	-	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	21.82	86	24	SNP	0.045	G	G	4511303	A	G	4511303	3	3	12	1	0	0	0	0	1	0	0	0	12131	275	10	4	1462	4	PLIN4	19	4511303	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	336156	4511303	54617680	379	3482											
PLIN4	729359	genome.wustl.edu	37	chr19	4511699	4511699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttagtgccagtcaggAcagactttgtagtgtccagg	9	12	11	9	0	2	1	1	0	1	1	3	2	3	2	2	2	1	1	2	2	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:4511699A>G	ENST00000301286.3	-	3	2230	c.2231T>C	c.(2230-2232)gTc>gCc	p.V744A		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	744	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCAGTCAGGACAGACTTTGT	0.587																																																	0													109	79	89					19																	4511699		1952	4113	6065	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2231T>C	19.37:g.4511699A>G	ENSP00000301286:p.Val744Ala		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.V744A	ENST00000301286.3	37	c.2231	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937540	0.34189	.	.	ENSG00000167676	ENST00000301286	T	0.07444	3.19	4.76	4.76	0.60689	.	0.181217	0.26248	N	0.025475	T	0.10981	0.0268	M	0.82323	2.585	0.09310	N	1	B	0.28378	0.209	B	0.33960	0.173	T	0.39375	-0.9617	10	0.06891	T	0.86	-17.7559	4.2964	0.10904	0.7278:0.0:0.0949:0.1772	.	744	Q96Q06	PLIN4_HUMAN	A	744	ENSP00000301286:V744A	ENSP00000301286:V744A	V	-	2	0	PLIN4	4462699	0.010000	0.17322	0.003000	0.11579	0.012000	0.07955	-0.287000	0.08388	1.772000	0.52199	0.379000	0.24179	GTC	PLIN4	-	NULL	ENSG00000167676		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0	47	0	A	XM_170901		4511699	-1	tier1	-	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	14.29	42	7	SNP	0.002	G	G	4511699	A	G	4511699	3	3	12	1	0	0	0	0	1	0	0	0	12131	275	10	4	1858	4	PLIN4	19	4511699	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	396	4511699	54617284	380	3483											
PTPRS	5802	genome.wustl.edu	37	chr19	5265039	5265039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcgcagctgtttgatgCgtccattgctggcactagga	7	12	12	10	2	0	2	0	2	0	0	2	3	1	3	1	2	3	5	1	2	1	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:5265039C>T	ENST00000587303.1	-	4	647	c.548G>A	c.(547-549)cGc>cAc	p.R183H	PTPRS_ENST00000592099.1_Missense_Mutation_p.R183H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R183H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R183H|PTPRS_ENST00000372412.4_Missense_Mutation_p.R183H|PTPRS_ENST00000353284.2_Missense_Mutation_p.R183H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R183H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R183H|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	183	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTGTTTGATGCGTCCATTGCT	0.617																																																	0													140	99	112					19																	5265039		2203	4300	6503	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.548G>A	19.37:g.5265039C>T	ENSP00000467537:p.Arg183His		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.R183H	ENST00000587303.1	37	c.548	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419066	0.62622	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.69806	1.29;-0.43;-0.43;0.7;0.7	3.31	3.31	0.37934	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000014	T	0.80025	0.4548	M	0.71581	2.175	0.38319	D	0.943483	D;P;D;D;D;D	0.89917	0.97;0.946;1.0;0.999;1.0;1.0	P;B;D;P;D;D	0.97110	0.497;0.376;0.995;0.901;1.0;0.997	D	0.85144	0.0982	10	0.87932	D	0	.	15.1718	0.72878	0.0:1.0:0.0:0.0	.	183;183;183;183;183;209	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	H	209;183;183;183;183;183;183;183;183;183	ENSP00000361489:R183H;ENSP00000349932:R183H;ENSP00000262963:R183H;ENSP00000269907:R183H;ENSP00000327313:R183H	ENSP00000262963:R183H	R	-	2	0	PTPRS	5216039	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	7.514000	0.81750	1.871000	0.54225	0.561000	0.74099	CGC	PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105426		0.617	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	46	0	C			5265039	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	5265039	C	T	5265039	3	4	12	1	0	0	0	0	1	0	0	0	12856	768	27	1	5434	1	PTPRS	19	5265039	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	753340	5265039	53863944	381	3484											
C3	718	genome.wustl.edu	37	chr19	6712611	6712611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgatggggatcccgctgcGctctgcctgcaccatgtcac	6	8	11	16	3	2	0	1	0	1	0	3	2	3	1	3	2	3	3	3	2	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:6712611G>A	ENST00000245907.6	-	10	1119	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	343					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ATCCCGCTGCGCTCTGCCTGC	0.577																																																	0													206	179	188					19																	6712611		2203	4300	6503	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1027C>T	19.37:g.6712611G>A	ENSP00000245907:p.Arg343Cys		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.R343C	ENST00000245907.6	37	c.1027	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652208	0.47362	.	.	ENSG00000125730	ENST00000245907	T	0.33654	1.4	5.13	-1.73	0.08081	.	1.455980	0.03434	N	0.208227	T	0.52256	0.1723	M	0.80847	2.515	0.09310	N	0.999992	D	0.76494	0.999	P	0.58266	0.836	T	0.44967	-0.9293	10	0.37606	T	0.19	.	4.2673	0.10769	0.2459:0.0:0.2074:0.5467	.	343	P01024	CO3_HUMAN	C	343	ENSP00000245907:R343C	ENSP00000245907:R343C	R	-	1	0	C3	6663611	0.000000	0.05858	0.024000	0.17045	0.662000	0.39071	-0.145000	0.10265	0.143000	0.18926	0.561000	0.74099	CGC	C3	-	NULL	ENSG00000125730		0.577	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0	32	0	G	NM_000064		6712611	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.003	A	A	6712611	G	A	6712611	3	1	12	1	0	0	0	0	1	0	0	0	2211	1087	38	1	4092	1	C3	19	6712611	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1447572	6712611	52416372	382	3485											
RETN	56729	genome.wustl.edu	37	chr19	7734758	7734758	+	Frame_Shift_Del	DEL	G	G	-																															gtgccagagcgtcacctccaGgggggacctggctacttgcc																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:7734758delG	ENST00000221515.2	+	3	258	c.170delG	c.(169-171)aggfs	p.R57fs	RETN_ENST00000381324.2_Intron	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	57					aging (GO:0007568)|fat cell differentiation (GO:0045444)|negative regulation of feeding behavior (GO:2000252)|positive regulation of collagen metabolic process (GO:0010714)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				ovary(1)	1						GTCACCTCCAGGGGGGACCTG	0.622																																																	0													56	55	55					19																	7734758		2203	4300	6503	SO:0001589	frameshift_variant	0			AF205952	CCDS12182.1	19p13.2	2008-02-05				ENSG00000104918			20389	protein-coding gene	gene with protein product		605565				12050208	Standard	NM_020415		Approved	FIZZ3, ADSF, RETN1	uc002mhf.1	Q9HD89		ENST00000221515.2:c.170delG	19.37:g.7734758delG	ENSP00000221515:p.Arg57fs		D6W649|Q540D9|Q76B53	Frame_Shift_Del	DEL	pfam_Resistin,superfamily_Resistin	p.D59fs	ENST00000221515.2	37	c.170	CCDS12182.1	19																																																																																			RETN	-	pfam_Resistin,superfamily_Resistin	ENSG00000104918		0.622	RETN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETN	HGNC	protein_coding	OTTHUMT00000461731.1		0	46	0	G	NM_020415		7734758	1	tier1		no_errors	ENST00000221515	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.709	-	-	7734758	G	-	7734758	7	5	12	1	0	1	0	1	0	0	0	0	13281	1000	35	0	176	0	RETN	19	7734758	Frame_Shift_Del	DEL	G	TCGA-2H-A9GR-01A-12D-A37C-09	1022147	7734758	51394225	383	3486											
CLEC4G	339390	genome.wustl.edu	37	chr19	7795643	7795643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgtcgggccctcaccgCgctcacgcagttcccgcagg	4	6	13	18	7	2	0	2	0	0	0	5	0	3	0	3	2	0	4	3	2	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:7795643C>T	ENST00000328853.5	-	5	454	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	129						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCCCTCACCGCGCTCACGCAG	0.751																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												0													2	3	3					19																	7795643		1536	2920	4456	SO:0001583	missense	0			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.386G>A	19.37:g.7795643C>T	ENSP00000327599:p.Arg129His			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R129H	ENST00000328853.5	37	c.386	CCDS12185.1	19	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857133	0.32791	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.01059	5.39	4.03	-0.56	0.11789	.	0.625996	0.13361	N	0.393632	T	0.00815	0.0027	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.47129	-0.9141	10	0.62326	D	0.03	.	3.6024	0.08030	0.0:0.4833:0.1911:0.3256	.	129	Q6UXB4	CLC4G_HUMAN	H	129;13	ENSP00000327599:R129H	ENSP00000327599:R129H	R	-	2	0	CLEC4G	7701643	0.007000	0.16637	0.142000	0.22268	0.004000	0.04260	0.079000	0.14782	0.123000	0.18342	-0.755000	0.03482	CGC	CLEC4G	-	NULL	ENSG00000182566		0.751	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	HGNC	protein_coding	OTTHUMT00000461989.1	-	0	19	0	C	NM_198492		7795643	-1	tier1	-	no_errors	ENST00000328853	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.024	T	T	7795643	C	T	7795643	3	4	12	1	0	0	0	0	1	0	0	0	3524	768	27	1	515	1	CLEC4G	19	7795643	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	60885	7795643	51333340	384	3487											
RAB11B	9230	genome.wustl.edu	37	chr19	8467047	8467047	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagaacgtggagcgctGgctgaaggagctgcgggacc	9	6	17	9	3	0	2	0	2	0	1	0	6	0	5	1	4	4	3	1	4	3	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:8467047G>A	ENST00000328024.6	+	3	532	c.314G>A	c.(313-315)tGg>tAg	p.W105*	RAB11B_ENST00000601897.1_5'UTR|RAB11B_ENST00000594216.1_Nonsense_Mutation_p.W105*	NM_004218.3	NP_004209.2	Q15907	RB11B_HUMAN	RAB11B, member RAS oncogene family	105					cellular response to acidic pH (GO:0071468)|constitutive secretory pathway (GO:0045054)|establishment of protein localization to membrane (GO:0090150)|GTP catabolic process (GO:0006184)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|melanosome transport (GO:0032402)|receptor recycling (GO:0001881)|regulated secretory pathway (GO:0045055)|regulation of anion transport (GO:0044070)|regulation of endocytic recycling (GO:2001135)|regulation of protein localization to cell surface (GO:2000008)|retrograde transport, endosome to plasma membrane (GO:1990126)|small GTPase mediated signal transduction (GO:0007264)|transferrin transport (GO:0033572)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)|synaptic vesicle (GO:0008021)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(1)|ovary(1)	4						GTGGAGCGCTGGCTGAAGGAG	0.632																																																	0													80	47	58					19																	8467047		2203	4300	6503	SO:0001587	stop_gained	0			X79780	CCDS12201.1	19p13.2	2012-07-02			ENSG00000185236	ENSG00000185236		"RAB, member RAS oncogene"	9761	protein-coding gene	gene with protein product		604198				7811277	Standard	NM_004218		Approved	H-YPT3	uc002mju.4	Q15907		ENST00000328024.6:c.314G>A	19.37:g.8467047G>A	ENSP00000333547:p.Trp105*		A5YM50|B2R7I4|B4DMK0|D6W671|Q2YDT2|Q5U0I1|Q6FHR0|Q6FI42|Q8NI07	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.W105*	ENST00000328024.6	37	c.314	CCDS12201.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.672994	0.96754	.	.	ENSG00000185236	ENST00000328024	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5947	0.84792	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000333547:W105X	W	+	2	0	RAB11B	8373047	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.570000	0.86706	0.561000	0.74099	TGG	RAB11B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000185236		0.632	RAB11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11B	HGNC	protein_coding	OTTHUMT00000460343.2	-	0	39	0	G	NM_004218		8467047	1	tier1	-	no_errors	ENST00000328024	ensembl	human	known	74_37	nonsense	17.24	24	5	SNP	1.000	A	A	8467047	G	A	8467047	4	1	12	1	0	0	0	0	0	1	0	0	12937	1357	47	3	324	3	RAB11B	19	8467047	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	671404	8467047	50661936	385	3488											
MUC16	94025	genome.wustl.edu	37	chr19	9068270	9068270	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctcagtagtagcagcAgtgaatgctttgtcaaagac	13	9	11	8	0	2	3	2	1	0	2	2	4	2	3	1	0	3	5	1	0	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:9068270A>G	ENST00000397910.4	-	3	19379	c.19176T>C	c.(19174-19176)acT>acC	p.T6392T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6394	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTAGCAGCAGTGAATGCTT	0.488																																																	0													117	113	114					19																	9068270		2001	4167	6168	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19176T>C	19.37:g.9068270A>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T6392	ENST00000397910.4	37	c.19176	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	82	0	A	NM_024690		9068270	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	37.29	37	22	SNP	0.000	G	G	9068270	A	G	9068270	2	3	12	1	0	0	0	0	0	0	0	1	10011	175	7	4		4	MUC16	19	9068270	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	601223	9068270	50060713	386	3489											
OR7D4	125958	genome.wustl.edu	37	chr19	9324982	9324982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctgagccggttcacagaAgaaatgcggaatctcagtgc	12	7	12	10	2	2	3	2	1	1	2	3	5	2	4	2	2	3	1	2	2	3	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:9324982A>C	ENST00000308682.2	-	1	560	c.532T>G	c.(532-534)Ttc>Gtc	p.F178V		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GGTTCACAGAAGAAATGCGGA	0.498																																																	0													102	95	98					19																	9324982		2203	4300	6503	SO:0001583	missense	0				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.532T>G	19.37:g.9324982A>C	ENSP00000310488:p.Phe178Val		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F178V	ENST00000308682.2	37	c.532	CCDS32901.1	19	.	.	.	.	.	.	.	.	.	.	A	14.21	2.467181	0.43839	.	.	ENSG00000174667	ENST00000308682	T	0.00220	8.52	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.00440	0.0014	M	0.86573	2.825	0.35912	D	0.831165	P	0.44195	0.828	P	0.50934	0.654	T	0.65998	-0.6032	10	0.72032	D	0.01	.	12.1734	0.54172	1.0:0.0:0.0:0.0	.	178	Q8NG98	OR7D4_HUMAN	V	178	ENSP00000310488:F178V	ENSP00000310488:F178V	F	-	1	0	OR7D4	9185982	0.949000	0.32298	0.999000	0.59377	0.172000	0.22775	7.433000	0.80362	1.831000	0.53308	0.358000	0.22013	TTC	OR7D4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000174667		0.498	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	HGNC	protein_coding	OTTHUMT00000449004.1	-	0	115	0	A			9324982	-1	tier1	-	no_errors	ENST00000308682	ensembl	human	known	74_37	missense	31.03	80	36	SNP	1.000	C	C	9324982	A	C	9324982	3	2	12	1	0	0	0	0	1	0	0	0	11259	72	3	4	410	4	OR7D4	19	9324982	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	256712	9324982	49804001	387	3490											
S1PR5	53637	genome.wustl.edu	37	chr19	10624956	10624956	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcaaggccagcgagcgCggcttgcgacgcgcccgggt	6	3	17	15	8	0	0	0	0	0	0	0	2	0	0	2	3	4	3	2	3	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:10624956C>T	ENST00000439028.3	-	2	857	c.732G>A	c.(730-732)ccG>ccA	p.P244P	S1PR5_ENST00000333430.4_Silent_p.P244P	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	244					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	CCAGCGAGCGCGGCTTGCGAC	0.721																																																	0													11	11	11					19																	10624956		2148	4234	6382	SO:0001819	synonymous_variant	0			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.732G>A	19.37:g.10624956C>T			Q6NW11	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.P244	ENST00000439028.3	37	c.732	CCDS12240.1	19	.	.	.	.	.	.	.	.	.	.	C	1.989	-0.432318	0.04669	.	.	ENSG00000180739	ENST00000359134	.	.	.	4.16	-8.33	0.00992	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.45025	D	0.998046	.	.	.	.	.	.	T	0.58393	-0.7644	5	0.72032	D	0.01	.	0.6725	0.00861	0.3002:0.2756:0.1089:0.3154	.	.	.	.	T	213	.	ENSP00000352045:A213T	A	-	1	0	S1PR5	10485956	0.340000	0.24792	0.635000	0.29338	0.046000	0.14306	-0.421000	0.07053	-1.041000	0.03266	-0.339000	0.08088	GCG	S1PR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt	ENSG00000180739		0.721	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	-	0	45	0	C	NM_030760		10624956	-1	tier1	-	no_errors	ENST00000333430	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.206	T	T	10624956	C	T	10624956	2	4	12	1	0	0	0	0	0	0	0	1	13842	755	27	1		1	S1PR5	19	10624956	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1299974	10624956	48504027	388	3491											
ZNF441	126068	genome.wustl.edu	37	chr19	11891521	11891521	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattttatcatcttggaagCtttcaaagacacatgatagt	13	14	7	7	0	3	2	2	1	1	1	3	3	3	3	0	1	1	2	0	1	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:11891521C>G	ENST00000357901.4	+	4	984	c.882C>G	c.(880-882)agC>agG	p.S294R	ZNF441_ENST00000454339.2_Missense_Mutation_p.S227R	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCTTGGAAGCTTTCAAAGAC	0.388																																																	0													100	101	101					19																	11891521		2203	4300	6503	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.882C>G	19.37:g.11891521C>G	ENSP00000350576:p.Ser294Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S294R	ENST00000357901.4	37	c.882	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	-	14.63	2.593284	0.46214	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.15952	2.38;2.38	1.18	0.0583	0.14327	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15696	0.0378	L	0.57130	1.785	0.09310	N	1	B	0.28605	0.217	B	0.33295	0.161	T	0.35724	-0.9777	9	0.21014	T	0.42	.	5.3775	0.16174	0.0:0.6377:0.0:0.3623	.	294	Q8N8Z8	ZN441_HUMAN	R	250;294;227	ENSP00000350576:S294R;ENSP00000403738:S227R	ENSP00000350576:S294R	S	+	3	2	ZNF441	11752521	0.000000	0.05858	0.002000	0.10522	0.831000	0.47069	-1.864000	0.01650	0.073000	0.16731	0.298000	0.19748	AGC	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	-	0	87	0	C	NM_152355		11891521	1	tier1	-	no_errors	ENST00000357901	ensembl	human	known	74_37	missense	18.27	85	19	SNP	0.005	G	G	11891521	C	G	11891521	3	3	12	1	0	0	0	0	1	0	0	0	17962	796	28	5	896	5	ZNF441	19	11891521	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1266565	11891521	47237462	389	3492											
RNASEH2A	10535	genome.wustl.edu	37	chr19	12918292	12918292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgggcttatacagtatgCattggaccagggcgtgaacg	10	9	13	9	2	0	1	0	1	0	0	0	2	0	2	1	3	3	3	1	3	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:12918292C>T	ENST00000221486.4	+	4	477	c.383C>T	c.(382-384)gCa>gTa	p.A128V		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	128					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						ATACAGTATGCATTGGACCAG	0.478																																																	0													137	118	124					19																	12918292		2203	4300	6503	SO:0001583	missense	0			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"ribonuclease H2, large subunit", "Aicardi-Goutieres syndrome 4"			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.383C>T	19.37:g.12918292C>T	ENSP00000221486:p.Ala128Val		B2RCY1|Q96F11	Missense_Mutation	SNP	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	p.A128V	ENST00000221486.4	37	c.383	CCDS12282.1	19	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977822	0.53720	.	.	ENSG00000104889	ENST00000221486	D	0.83075	-1.68	4.67	3.63	0.41609	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.058129	0.64402	D	0.000002	T	0.67011	0.2848	N	0.25144	0.715	0.80722	D	1	B	0.27166	0.17	B	0.24269	0.052	T	0.60198	-0.7310	10	0.02654	T	1	-6.6926	11.598	0.50986	0.0:0.9102:0.0:0.0898	.	128	O75792	RNH2A_HUMAN	V	128	ENSP00000221486:A128V	ENSP00000221486:A128V	A	+	2	0	RNASEH2A	12779292	1.000000	0.71417	0.036000	0.18154	0.880000	0.50808	5.307000	0.65762	0.946000	0.37632	0.400000	0.26472	GCA	RNASEH2A	-	pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA	ENSG00000104889		0.478	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2A	HGNC	protein_coding	OTTHUMT00000451507.1	-	0	49	0	C	NM_006397		12918292	1	tier1	-	no_errors	ENST00000221486	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.990	T	T	12918292	C	T	12918292	3	4	12	1	0	0	0	0	1	0	0	0	13457	710	25	3	397	3	RNASEH2A	19	12918292	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1026771	12918292	46210691	390	3493											
RLN3	117579	genome.wustl.edu	37	chr19	14139096	14139096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagctgaggcccgggCagcgccttacggggtcaggc	5	4	19	13	4	1	1	1	1	0	0	1	2	1	2	3	6	3	2	3	6	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:14139096C>T	ENST00000431365.2	+	1	137	c.80C>T	c.(79-81)gCa>gTa	p.A27V	RLN3_ENST00000585987.1_Missense_Mutation_p.A27V|CTB-55O6.4_ENST00000590528.1_RNA	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	27						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5						GAGGCCCGGGCAGCGCCTTAC	0.647																																																	0													46	50	48					19																	14139096		2203	4300	6503	SO:0001583	missense	0			AF447451	CCDS12302.1	19p13.2	2013-02-26	2004-11-15					"Endogenous ligands"	17135	protein-coding gene	gene with protein product	"prorelaxin H3"	606855	"relaxin 3 (H3)"				Standard	NM_080864		Approved	ZINS4, RXN3, H3	uc002mxw.1	Q8WXF3		ENST00000431365.2:c.80C>T	19.37:g.14139096C>T	ENSP00000397415:p.Ala27Val		Q6UXW5	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family	p.A27V	ENST00000431365.2	37	c.80	CCDS12302.1	19	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397914	0.42512	.	.	ENSG00000171136	ENST00000431365	D	0.84660	-1.88	4.57	2.23	0.28157	Insulin-like (1);	0.750480	0.12232	N	0.487379	T	0.75845	0.3905	N	0.24115	0.695	0.09310	N	1	B;B	0.21905	0.062;0.062	B;B	0.16722	0.016;0.01	T	0.66952	-0.5793	10	0.59425	D	0.04	-2.4709	11.5779	0.50875	0.0:0.6532:0.3468:0.0	.	27;27	B2RU28;Q8WXF3	.;REL3_HUMAN	V	27	ENSP00000397415:A27V	ENSP00000397415:A27V	A	+	2	0	RLN3	14000096	0.000000	0.05858	0.032000	0.17829	0.242000	0.25591	-0.203000	0.09438	0.888000	0.36160	0.491000	0.48974	GCA	RLN3	-	superfamily_Insulin-like	ENSG00000171136		0.647	RLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN3	HGNC	protein_coding	OTTHUMT00000458529.1	-	0	141	0	C			14139096	1	tier1	-	no_errors	ENST00000431365	ensembl	human	known	74_37	missense	14.16	95	16	SNP	0.001	T	T	14139096	C	T	14139096	3	4	12	1	0	0	0	0	1	0	0	0	13438	710	25	3	82	3	RLN3	19	14139096	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1220804	14139096	44989887	391	3494											
CYP4F2	8529	genome.wustl.edu	37	chr19	15990622	15990622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgtcctgggtgacatGgcgggagatgaccgggactg	9	7	16	9	2	0	3	0	2	0	1	1	5	1	4	2	4	0	0	2	4	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:15990622G>A	ENST00000221700.6	-	10	1296	c.1201C>T	c.(1201-1203)Cat>Tat	p.H401Y		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGTGACATGGCGGGAGATG	0.637																																																	0													86	91	89					19																	15990622		2203	4300	6503	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1201C>T	19.37:g.15990622G>A	ENSP00000221700:p.His401Tyr			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.H401Y	ENST00000221700.6	37	c.1201	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.315916	0.00018	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.67523	-0.27	2.78	-1.63	0.08345	.	2587.430000	0.01449	U	0.015395	T	0.32912	0.0845	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45249	-0.9274	10	0.02654	T	1	.	3.7977	0.08746	0.2984:0.0:0.5029:0.1986	.	401	P78329	CP4F2_HUMAN	Y	401;252	ENSP00000221700:H401Y	ENSP00000221700:H401Y	H	-	1	0	CYP4F2	15851622	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.940000	0.03929	-0.504000	0.06577	-0.339000	0.08088	CAT	CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186115		0.637	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	-	0	131	0	G	NM_001082		15990622	-1	tier1	-	no_errors	ENST00000221700	ensembl	human	known	74_37	missense	7.29	89	7	SNP	0.048	A	A	15990622	G	A	15990622	3	1	12	1	0	0	0	0	1	0	0	0	4197	1348	47	3	377	3	CYP4F2	19	15990622	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1851526	15990622	43138361	392	3495											
GMIP	51291	genome.wustl.edu	37	chr19	19745634	19745634	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgaggacactcgagacGtcatgaggcgagttccccga	9	7	13	12	5	1	3	1	2	0	1	3	7	2	4	2	2	0	2	2	2	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:19745634G>C	ENST00000203556.4	-	17	1991	c.1854C>G	c.(1852-1854)gaC>gaG	p.D618E	GMIP_ENST00000445806.2_Missense_Mutation_p.D589E|GMIP_ENST00000587238.1_Missense_Mutation_p.D592E|GMIP_ENST00000586269.1_5'UTR	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	618	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACTCGAGACGTCATGAGGCG	0.637																																																	0													58	56	57					19																	19745634		2202	4299	6501	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1854C>G	19.37:g.19745634G>C	ENSP00000203556:p.Asp618Glu		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.D618E	ENST00000203556.4	37	c.1854	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108648	0.56291	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.19806	2.12;2.12	5.07	-4.66	0.03329	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.42821	D	0.000646	T	0.48926	0.1527	M	0.93283	3.4	0.42829	D	0.994011	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.97110	1.0;0.991;1.0	T	0.59402	-0.7461	10	0.30854	T	0.27	-19.0899	14.3598	0.66764	0.3494:0.0:0.6506:0.0	.	589;592;618	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	E	618;589	ENSP00000203556:D618E;ENSP00000397075:D589E	ENSP00000203556:D618E	D	-	3	2	GMIP	19606634	0.149000	0.22717	0.048000	0.18961	0.841000	0.47740	-0.307000	0.08167	-1.047000	0.03242	-1.267000	0.01435	GAC	GMIP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000089639		0.637	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0	59	0	G	NM_016573		19745634	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.747	C	C	19745634	G	C	19745634	3	2	12	1	0	0	0	0	1	0	0	0	6517	1136	40	5	1078	5	GMIP	19	19745634	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	3755012	19745634	39383349	393	3496											
ZNF429	353088	genome.wustl.edu	37	chr19	21719663	21719663	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagcctttagcaggtacTcaacccttactacccataag	13	9	6	13	0	1	0	1	0	0	0	1	0	1	0	3	1	6	3	3	1	7	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:21719663T>G	ENST00000358491.4	+	4	1016	c.808T>G	c.(808-810)Tca>Gca	p.S270A	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	270				Missing (in Ref. 2; AAP30884 and 3; AAK01422). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAGCAGGTACTCAACCCTTAC	0.388																																																	0													39	43	42					19																	21719663		2138	4274	6412	SO:0001583	missense	0			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"Zinc fingers, C2H2-type", "-"	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.808T>G	19.37:g.21719663T>G	ENSP00000351280:p.Ser270Ala		A6NLV7|Q9BZE6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S270A	ENST00000358491.4	37	c.808	CCDS42537.1	19	.	.	.	.	.	.	.	.	.	.	.	10.19	1.283076	0.23392	.	.	ENSG00000197013	ENST00000358491	T	0.07327	3.2	0.876	-1.6	0.08426	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	M	0.62016	1.91	0.09310	N	1	B	0.27229	0.172	B	0.18871	0.023	T	0.36672	-0.9738	9	0.44086	T	0.13	.	2.284	0.04122	0.2493:0.0:0.2477:0.5029	.	270	Q86V71	ZN429_HUMAN	A	270	ENSP00000351280:S270A	ENSP00000351280:S270A	S	+	1	0	ZNF429	21511503	0.000000	0.05858	0.053000	0.19242	0.053000	0.15095	-1.868000	0.01644	0.251000	0.21505	0.248000	0.18094	TCA	ZNF429	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197013		0.388	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	-	0	43	0	T	NM_001001415		21719663	1	tier1	-	no_errors	ENST00000358491	ensembl	human	novel	74_37	missense	35.94	41	23	SNP	0.000	G	G	21719663	T	G	21719663	3	3	12	1	0	0	0	0	1	0	0	0	17950	1551	54	4	822	4	ZNF429	19	21719663	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1974029	21719663	37409320	394	3497											
ZNF98	148198	genome.wustl.edu	37	chr19	22585671	22585671	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggtgatcaggtctggcTtagaggcagcaatacctgtt	10	10	13	8	0	2	2	1	1	1	1	2	3	2	2	1	4	2	4	1	4	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:22585671T>G	ENST00000357774.5	-	3	294	c.173A>C	c.(172-174)aAg>aCg	p.K58T	ZNF98_ENST00000601553.1_Missense_Mutation_p.K58T	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGGTCTGGCTTAGAGGCAGC	0.398																																																	0													81	86	85					19																	22585671		2184	4294	6478	SO:0001583	missense	0				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.173A>C	19.37:g.22585671T>G	ENSP00000350418:p.Lys58Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K58T	ENST00000357774.5	37	c.173	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	13.90	2.376408	0.42105	.	.	ENSG00000197360	ENST00000357774	T	0.00922	5.54	0.476	0.476	0.16779	Krueppel-associated box (3);	.	.	.	.	T	0.01661	0.0053	M	0.78637	2.42	0.21184	N	0.999766	B	0.34290	0.447	B	0.34242	0.178	T	0.35176	-0.9799	8	0.87932	D	0	.	.	.	.	.	58	A6NK75	ZNF98_HUMAN	T	58	ENSP00000350418:K58T	ENSP00000350418:K58T	K	-	2	0	ZNF98	22377511	0.297000	0.24408	0.830000	0.32933	0.960000	0.62799	1.242000	0.32755	0.447000	0.26695	0.248000	0.18094	AAG	ZNF98	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197360		0.398	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	-	0	81	0	T	NM_001098626		22585671	-1	tier1	-	no_errors	ENST00000357774	ensembl	human	known	74_37	missense	30.60	93	41	SNP	0.839	G	G	22585671	T	G	22585671	3	3	12	1	0	0	0	0	1	0	0	0	18251	1609	56	4	1553	4	ZNF98	19	22585671	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	866008	22585671	36543312	395	3498											
ZNF492	57615	genome.wustl.edu	37	chr19	22848044	22848044	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagatttccaaatataaaAgaaattgtgctggtgagaaa	19	10	8	4	0	0	3	0	1	0	3	1	4	1	3	1	1	1	1	1	1	7	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:22848044A>C	ENST00000456783.2	+	4	1817	c.1573A>C	c.(1573-1575)Aga>Cga	p.R525R	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAATATAAAAGAAATTGTGC	0.323																																																	0													20	19	19					19																	22848044		1771	4016	5787	SO:0001819	synonymous_variant	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1573A>C	19.37:g.22848044A>C			Q08EI7|Q08EI8	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R525	ENST00000456783.2	37	c.1573	CCDS46032.1	19																																																																																			ZNF492	-	NULL	ENSG00000229676		0.323	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	-	0	56	0	A	NM_020855		22848044	1	tier1	-	no_errors	ENST00000456783	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.429	C	C	22848044	A	C	22848044	2	2	12	1	0	0	0	0	0	0	0	1	17991	64	3	4		4	ZNF492	19	22848044	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	262373	22848044	36280939	396	3499											
POP4	10775	genome.wustl.edu	37	chr19	30106180	30106180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaaactgcgtgttcactGtggaaaccgatggctttatt	10	13	10	8	2	1	0	1	0	0	0	1	2	1	1	1	2	4	3	1	2	4	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:30106180G>A	ENST00000585603.1	+	7	2858	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	POP4_ENST00000392279.3_Missense_Mutation_p.V105M|POP4_ENST00000221770.3_Missense_Mutation_p.V62M|POP4_ENST00000591824.1_3'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	186					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CGTGTTCACTGTGGAAACCGA	0.368																																					Melanoma(89;1165 1449 14085 34436 43672)												0													84	79	81					19																	30106180		2203	4300	6503	SO:0001583	missense	0			BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.556G>A	19.37:g.30106180G>A	ENSP00000465213:p.Val186Met		Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	p.V186M	ENST00000585603.1	37	c.556	CCDS12416.1	19	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134245	0.56828	.	.	ENSG00000105171	ENST00000221770;ENST00000392279	.	.	.	6.17	5.14	0.70334	Rof/RNase P-like (1);Ribonuclease P/MRP, subunit p29 (3);	0.187025	0.46442	D	0.000297	T	0.62060	0.2397	L	0.48362	1.52	0.48185	D	0.999604	P;P	0.51147	0.942;0.87	P;P	0.56434	0.671;0.798	T	0.62267	-0.6890	9	0.45353	T	0.12	-14.5722	9.4129	0.38503	0.0762:0.0:0.7717:0.1521	.	105;186	A8MYC1;O95707	.;RPP29_HUMAN	M	186;105	.	ENSP00000221770:V186M	V	+	1	0	POP4	34798020	0.997000	0.39634	0.897000	0.35233	0.047000	0.14425	2.375000	0.44283	1.598000	0.50083	0.655000	0.94253	GTG	POP4	-	pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit	ENSG00000105171		0.368	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP4	HGNC	protein_coding	OTTHUMT00000458710.1	-	0	53	0	G	NM_006627		30106180	1	tier1	-	no_errors	ENST00000585603	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.996	A	A	30106180	G	A	30106180	3	1	12	1	0	0	0	0	1	0	0	0	12291	1377	48	3	582	3	POP4	19	30106180	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	7258136	30106180	29022803	397	3500											
ATP4A	495	genome.wustl.edu	37	chr19	36046578	36046578	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggtctgggggggcttacTtgcgattaacctggtctacg	6	11	16	8	2	2	0	0	0	2	0	2	2	2	1	1	6	4	1	1	6	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:36046578T>G	ENST00000262623.3	-	13	2034	c.2006A>C	c.(2005-2007)aAg>aCg	p.K669T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	669					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGGGGCTTACTTGCGATTAAC	0.647																																																	0													94	93	93					19																	36046578		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2006+1A>C	19.37:g.36046578T>G			O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K669T	ENST00000262623.3	37	c.2006	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	T	13.65	2.300319	0.40694	.	.	ENSG00000105675	ENST00000262623	D	0.93906	-3.31	4.97	3.9	0.45041	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.270919	0.24458	N	0.038346	D	0.87609	0.6220	L	0.35793	1.09	0.48452	D	0.999654	B	0.13594	0.008	B	0.27608	0.081	T	0.80564	-0.1326	9	.	.	.	.	5.9283	0.19124	0.0:0.1188:0.0:0.8812	.	669	P20648	ATP4A_HUMAN	T	669	ENSP00000262623:K669T	.	K	-	2	0	ATP4A	40738418	1.000000	0.71417	0.999000	0.59377	0.458000	0.32498	3.924000	0.56476	2.097000	0.63578	0.379000	0.24179	AAG	ATP4A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0	49	0	T	NM_000704	Missense_Mutation	36046578	-1	tier1	-	no_errors	ENST00000262623	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	G	G	36046578	T	G	36046578	5	3	12	1	0	0	0	0	0	0	1	0	1146	1623	56	4	1141	4	ATP4A	19	36046578	Splice_Site	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	5940398	36046578	23082405	398	3501											
RASGRP4	115727	genome.wustl.edu	37	chr19	38905746	38905746	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggaggcaaggagctcAgtgagctccaggagggcctg	8	7	18	8	0	1	1	1	1	0	0	2	4	2	4	2	5	2	3	2	5	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:38905746A>G	ENST00000587738.1	-	9	1042	c.972T>C	c.(970-972)acT>acC	p.T324T	RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000587753.1_Intron|RASGRP4_ENST00000293062.9_Silent_p.T227T|RASGRP4_ENST00000454404.2_Silent_p.T290T|RASGRP4_ENST00000586305.1_Silent_p.T310T			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	324	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAAGGAGCTCAGTGAGCTCCA	0.657																																																	0													8	10	10					19																	38905746		1950	4135	6085	SO:0001819	synonymous_variant	0			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.972T>C	19.37:g.38905746A>G			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.T324	ENST00000587738.1	37	c.972	CCDS46068.1	19																																																																																			RASGRP4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000171777		0.657	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1		0	45	0	A	NM_170604		38905746	-1			no_errors	ENST00000587738	ensembl	human	known	74_37	silent	10.81	32	4	SNP	0.198	G	G	38905746	A	G	38905746	2	3	12	1	0	0	0	0	0	0	0	1	13122	175	7	4		4	RASGRP4	19	38905746	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2859168	38905746	20223237	399	3502											
AKT2	208	genome.wustl.edu	37	chr19	40742171	40742171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccccagacacctcaggcGccaggtactccggggtccca	9	4	10	18	2	1	1	1	0	0	1	3	1	3	1	6	4	2	1	6	4	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:40742171G>A	ENST00000392038.2	-	10	1251	c.953C>T	c.(952-954)gCg>gTg	p.A318V	AKT2_ENST00000424901.1_Missense_Mutation_p.A318V|AKT2_ENST00000579047.1_Missense_Mutation_p.A256V|AKT2_ENST00000311278.6_Intron	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	318	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CACCTCAGGCGCCAGGTACTC	0.597			A		"ovarian, pancreatic "																																			Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													60	63	62					19																	40742171		2203	4300	6503	SO:0001583	missense	0			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"Pleckstrin homology (PH) domain containing"	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.953C>T	19.37:g.40742171G>A	ENSP00000375892:p.Ala318Val		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.A318V	ENST00000392038.2	37	c.953	CCDS12552.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.500733	0.96371	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000391845	T;T	0.53640	0.61;0.61	5.7	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046129	0.85682	N	0.000000	T	0.81158	0.4764	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68192	0.956;0.94	D	0.88696	0.3212	10	0.87932	D	0	.	13.3883	0.60809	0.0771:0.0:0.9229:0.0	.	256;318	B4DG79;P31751	.;AKT2_HUMAN	V	318;219;318;138	ENSP00000375892:A318V;ENSP00000399532:A318V	ENSP00000375719:A219V	A	-	2	0	AKT2	45434011	1.000000	0.71417	0.967000	0.41034	0.903000	0.53119	9.776000	0.99001	1.416000	0.47057	0.655000	0.94253	GCG	AKT2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105221		0.597	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	-	0	54	0	G	NM_001626		40742171	-1	tier1	-	no_errors	ENST00000392038	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	A	A	40742171	G	A	40742171	3	1	12	1	0	0	0	0	1	0	0	0	480	1087	38	1	512	1	AKT2	19	40742171	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	1836425	40742171	18386812	400	3503											
CYP2A13	1553	genome.wustl.edu	37	chr19	41597814	41597814	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctcatccgcatgcaggagGtacatcccagcagccagtgc	9	8	10	14	1	1	0	1	0	1	0	4	1	3	1	3	2	5	4	3	2	1	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:41597814G>A	ENST00000330436.3	+	5	831		c.e5+1			NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CATGCAGGAGGTACATCCCAG	0.587																																																	0													99	78	85					19																	41597814		2203	4300	6503	SO:0001630	splice_region_variant	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.831+1G>A	19.37:g.41597814G>A			Q53YR8|Q6R569|Q6R570|Q9H2X2	Splice_Site	SNP	-	e5+1	ENST00000330436.3	37	c.831+1	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	9.745	1.165981	0.21538	.	.	ENSG00000197838	ENST00000330436	.	.	.	4.49	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6279	0.62178	0.0:0.1572:0.8428:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2A13	46289654	1.000000	0.71417	0.986000	0.45419	0.059000	0.15707	6.883000	0.75595	1.125000	0.41998	-0.196000	0.12772	.	CYP2A13	-	-	ENSG00000197838		0.587	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	-	0	91	0	G	NM_000766	Intron	41597814	1	tier1	-	no_errors	ENST00000330436	ensembl	human	known	74_37	splice_site	9.48	105	11	SNP	1.000	A	A	41597814	G	A	41597814	5	1	12	1	0	0	0	0	0	0	1	0	4170	1275	44	3	850	3	CYP2A13	19	41597814	Splice_Site	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	855643	41597814	17531169	401	3504											
XRCC1	7515	genome.wustl.edu	37	chr19	44056236	44056236	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctctagggccttatctcGcagctcggagcggaaggggt	8	8	15	10	3	2	0	0	0	2	0	4	2	2	2	1	5	3	3	1	5	4	2	rs574450911		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:44056236G>A	ENST00000262887.5	-	9	1562	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Nonsense_Mutation_p.R308*			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	339	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCCTTATCTCGCAGCTCGGAG	0.657								Other BER factors																																									0													88	85	86					19																	44056236		2203	4300	6503	SO:0001587	stop_gained	0			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1015C>T	19.37:g.44056236G>A	ENSP00000262887:p.Arg339*		Q6IBS4|Q9HCB1	Nonsense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.R339*	ENST00000262887.5	37	c.1015	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685109	0.88639	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	.	.	.	4.7	4.7	0.59300	.	0.118724	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.0145	15.5193	0.75854	0.0:0.0:1.0:0.0	.	.	.	.	X	353;339;308;339	.	ENSP00000262887:R339X	R	-	1	2	XRCC1	48748076	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	4.482000	0.60257	2.601000	0.87937	0.561000	0.74099	CGA	XRCC1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000073050		0.657	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	-	0	144	0	G	NM_006297		44056236	-1	tier1	-	no_errors	ENST00000262887	ensembl	human	known	74_37	nonsense	21.14	97	26	SNP	1.000	A	A	44056236	G	A	44056236	4	1	12	1	0	0	0	0	0	1	0	0	17501	1095	38	1	922	1	XRCC1	19	44056236	Nonsense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	2458422	44056236	15072747	402	3505											
LYPD5	284348	genome.wustl.edu	37	chr19	44302744	44302744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcgccgctgagcgtcggcGggtcgggtgctggcaagaga	5	5	20	11	7	0	2	0	1	0	1	2	3	0	2	1	5	2	3	1	5	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:44302744G>A	ENST00000377950.3	-	4	460	c.380C>T	c.(379-381)cCg>cTg	p.P127L	AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000414615.2_Missense_Mutation_p.P84L|LYPD5_ENST00000594013.1_Missense_Mutation_p.P84L	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	127						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GAGCGTCGGCGGGTCGGGTGC	0.677																																																	0													50	46	47					19																	44302744		2203	4298	6501	SO:0001583	missense	0			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.380C>T	19.37:g.44302744G>A	ENSP00000367185:p.Pro127Leu		Q6PEX9|Q96DR2	Missense_Mutation	SNP	pfam_LY6_UPAR	p.P127L	ENST00000377950.3	37	c.380	CCDS46096.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089235	0.76756	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.26660	3.19;1.72	4.25	4.25	0.50352	.	0.143790	0.31020	N	0.008408	T	0.39226	0.1070	L	0.34521	1.04	0.41412	D	0.987745	D	0.89917	1.0	D	0.81914	0.995	T	0.33163	-0.9879	10	0.87932	D	0	-17.8079	14.1664	0.65480	0.0:0.0:1.0:0.0	.	127	Q6UWN5	LYPD5_HUMAN	L	127;84	ENSP00000367185:P127L;ENSP00000408433:P84L	ENSP00000367185:P127L	P	-	2	0	LYPD5	48994584	0.979000	0.34478	0.143000	0.22291	0.122000	0.20287	4.425000	0.59875	2.196000	0.70406	0.561000	0.74099	CCG	LYPD5	-	NULL	ENSG00000159871		0.677	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD5	HGNC	protein_coding	OTTHUMT00000463611.1	-	0	55	0	G	NM_182573		44302744	-1	tier1	-	no_errors	ENST00000377950	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.548	A	A	44302744	G	A	44302744	3	1	12	1	0	0	0	0	1	0	0	0	9149	1116	39	1	383	1	LYPD5	19	44302744	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	246508	44302744	14826239	403	3506											
HAS1	3036	genome.wustl.edu	37	chr19	52219540	52219540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatgctgagcatgcggtTggtgaggtgccggtcatccc	6	9	14	12	2	1	2	1	2	0	0	2	2	2	2	3	4	4	3	3	4	0	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:52219540T>C	ENST00000222115.1	-	4	1064	c.1030A>G	c.(1030-1032)Aac>Gac	p.N344D	HAS1_ENST00000601714.1_Missense_Mutation_p.N351D|HAS1_ENST00000540069.2_Missense_Mutation_p.N343D|HAS1_ENST00000594621.1_Intron	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	344					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGCATGCGGTTGGTGAGGTGC	0.522																																					NSCLC(132;636 2450 45807 47979)												0													110	101	104					19																	52219540		2203	4300	6503	SO:0001583	missense	0			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1030A>G	19.37:g.52219540T>C	ENSP00000222115:p.Asn344Asp		Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.N351D	ENST00000222115.1	37	c.1051	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	t	18.91	3.724193	0.68959	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.42513	0.97;0.97	3.35	3.35	0.38373	.	0.000000	0.85682	U	0.000000	T	0.68842	0.3045	M	0.93763	3.455	0.52099	D	0.99994	D;D;D	0.76494	0.991;0.999;0.999	P;D;D	0.71870	0.906;0.975;0.975	T	0.75022	-0.3464	10	0.66056	D	0.02	-16.4827	10.0341	0.42118	0.0:0.0:0.0:1.0	.	343;344;343	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	D	343;344	ENSP00000445021:N343D;ENSP00000222115:N344D	ENSP00000222115:N344D	N	-	1	0	HAS1	56911352	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	7.831000	0.86748	1.315000	0.45114	0.139000	0.15985	AAC	HAS1	-	pfam_Chitin_synth_fng	ENSG00000105509		0.522	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	-	0	46	0	T	NM_001523		52219540	-1	tier1	-	no_errors	ENST00000601714	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	C	C	52219540	T	C	52219540	3	2	12	1	0	0	0	0	1	0	0	0	6988	1812	63	4	714	4	HAS1	19	52219540	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	7916796	52219540	6909443	404	3507											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52716315	52716315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctgcgccaggccgctgaAgacaagtcctggcgcgtccg	7	6	13	15	5	1	2	0	1	1	1	3	2	3	2	4	2	1	1	4	2	2	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:52716315A>C	ENST00000322088.6	+	6	817	c.759A>C	c.(757-759)gaA>gaC	p.E253D	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E198D|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E74D	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	253	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGGCCGCTGAAGACAAGTCCT	0.627			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													41	38	39					19																	52716315		2203	4300	6503	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.759A>C	19.37:g.52716315A>C	ENSP00000324804:p.Glu253Asp		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E253D	ENST00000322088.6	37	c.759	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	A	13.83	2.355394	0.41700	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06371	3.31;3.31	4.48	-0.117	0.13551	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000020	T	0.07728	0.0194	M	0.72479	2.2	0.44092	D	0.996852	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.14699	-1.0463	10	0.37606	T	0.19	-26.2928	8.1486	0.31126	0.4426:0.0:0.5574:0.0	.	198;253;253	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	D	243;173;253;198	ENSP00000324804:E253D;ENSP00000415067:E198D	ENSP00000324804:E253D	E	+	3	2	PPP2R1A	57408127	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.110000	0.31147	-0.054000	0.13266	-0.274000	0.10170	GAA	PPP2R1A	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000105568		0.627	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	-	0	23	0	A	NM_014225		52716315	1	tier1	-	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	C	C	52716315	A	C	52716315	3	2	12	1	0	0	0	0	1	0	0	0	12424	69	3	4	781	4	PPP2R1A	19	52716315	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	496775	52716315	6412668	405	3508											
ZNF347	84671	genome.wustl.edu	37	chr19	53644920	53644920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcctgatggatagctaaGcttgaacgagctctaaaggc	11	10	12	8	1	1	2	0	2	1	0	1	4	1	3	1	2	5	4	1	2	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:53644920G>A	ENST00000334197.7	-	5	1229	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.S388S|ZNF347_ENST00000452676.2_Silent_p.S388S	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GGATAGCTAAGCTTGAACGAG	0.413																																					Melanoma(64;205 1597 17324 45721)												0													98	100	99					19																	53644920		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1161C>T	19.37:g.53644920G>A			B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S388	ENST00000334197.7	37	c.1164	CCDS33097.1	19																																																																																			ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1		0	78	0	G	NM_032584		53644920	-1			no_errors	ENST00000452676	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.000	A	A	53644920	G	A	53644920	2	1	12	1	0	0	0	0	0	0	0	1	17909	962	34	3		3	ZNF347	19	53644920	Silent	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	928605	53644920	5484063	406	3509											
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56701744	56701744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcccacaggtgtggcttCtccttgaggctcttcttggg	3	14	13	11	0	3	1	0	1	3	0	4	1	3	1	2	4	1	3	2	4	0	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:56701744C>T	ENST00000586855.2	-	5	1253	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E314K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	314					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTGTGGCTTCTCCTTGAGGC	0.552																																																	0													105	110	109					19																	56701744		2203	4300	6503	SO:0001583	missense	0				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.940G>A	19.37:g.56701744C>T	ENSP00000466072:p.Glu314Lys			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E314K	ENST00000586855.2	37	c.940	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	C	4.970	0.180095	0.09443	.	.	ENSG00000197213	ENST00000358992	T	0.05855	3.38	0.97	-0.151	0.13411	.	.	.	.	.	T	0.04137	0.0115	L	0.36672	1.1	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.47209	-0.9135	9	0.07325	T	0.83	.	5.308	0.15815	0.0:0.7758:0.0:0.2242	.	314	A6NJL1	ZSA5B_HUMAN	K	314	ENSP00000351883:E314K	ENSP00000351883:E314K	E	-	1	0	ZSCAN5B	61393556	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.007000	0.03667	-0.003000	0.14444	0.306000	0.20318	GAA	ZSCAN5B	-	NULL	ENSG00000197213		0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	-	0	102	0	C	NM_001080456		56701744	-1	tier1	-	no_errors	ENST00000358992	ensembl	human	known	74_37	missense	30.68	60	27	SNP	0.000	T	T	56701744	C	T	56701744	3	4	12	1	0	0	0	0	1	0	0	0	18287	922	32	3	551	3	ZSCAN5B	19	56701744	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	3056824	56701744	2427239	407	3510											
ZNF667	63934	genome.wustl.edu	37	chr19	56952705	56952705	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcattacattcatagggTttctctccagtatgacttct	9	17	5	10	0	4	1	2	1	2	0	6	1	5	1	1	1	1	2	1	1	3	7			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:56952705T>G	ENST00000504904.3	-	7	2378	c.1659A>C	c.(1657-1659)aaA>aaC	p.K553N	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.K553N|ZNF667_ENST00000342634.3_Missense_Mutation_p.K681N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCATAGGGTTTCTCTCCAG	0.408																																																	0													102	95	97					19																	56952705		2203	4300	6503	SO:0001583	missense	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1659A>C	19.37:g.56952705T>G	ENSP00000439402:p.Lys553Asn		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K681N	ENST00000504904.3	37	c.2043	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627045	0.66901	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.26067	1.76;1.76;1.76	4.81	-4.78	0.03209	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.159985	0.29239	N	0.012725	T	0.42787	0.1218	M	0.70595	2.14	0.29063	N	0.883768	D;D	0.76494	0.997;0.999	D;D	0.68943	0.961;0.961	T	0.46843	-0.9162	10	0.87932	D	0	-14.4903	14.35	0.66694	0.0:0.6005:0.0:0.3995	.	681;553	E7EPS0;Q5HYK9	.;ZN667_HUMAN	N	681;553;553;335;268	ENSP00000344699:K681N;ENSP00000439402:K553N;ENSP00000292069:K553N	ENSP00000292069:K553N	K	-	3	2	ZNF667	61644517	0.000000	0.05858	0.941000	0.38009	0.982000	0.71751	-2.102000	0.01343	-1.048000	0.03238	0.533000	0.62120	AAA	ZNF667	-	pfscan_Znf_C2H2	ENSG00000198046		0.408	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	-	0	63	0	T	NM_022103		56952705	-1	tier1	-	no_errors	ENST00000342634	ensembl	human	known	74_37	missense	26.09	51	18	SNP	0.885	G	G	56952705	T	G	56952705	3	3	12	1	0	0	0	0	1	0	0	0	18122	1722	60	4	177	4	ZNF667	19	56952705	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	250961	56952705	2176278	408	3511											
PEG3	5178	genome.wustl.edu	37	chr19	57325574	57325574	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggctcagcagcctccacTtctggctcagcagcctccac	6	10	8	17	0	3	0	2	0	1	0	5	0	5	0	4	2	4	4	4	2	0	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:57325574T>C	ENST00000326441.9	-	10	4599	c.4236A>G	c.(4234-4236)gaA>gaG	p.E1412E	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.E1412E|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.E1286E|PEG3_ENST00000598410.1_Silent_p.E1288E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1412	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCAG	0.587																																																	0													44	47	46					19																	57325574		2202	4294	6496	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4236A>G	19.37:g.57325574T>C			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1412	ENST00000326441.9	37	c.4236	CCDS12948.1	19																																																																																			PEG3	-	NULL	ENSG00000198300		0.587	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	90	0	T			57325574	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	18.18	63	14	SNP	0.000	C	C	57325574	T	C	57325574	2	2	12	1	0	0	0	0	0	0	0	1	11759	1606	56	4		4	PEG3	19	57325574	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	372869	57325574	1803409	409	3512											
PEG3	5178	genome.wustl.edu	37	chr19	57327776	57327776	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagcttctccttattgtaAgttttctgacgccttttaag	8	17	7	9	1	2	2	0	1	2	1	3	2	2	2	2	0	1	3	2	0	3	8			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr19:57327776A>C	ENST00000326441.9	-	10	2397	c.2034T>G	c.(2032-2034)acT>acG	p.T678T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.T678T|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.T552T|PEG3_ENST00000598410.1_Silent_p.T554T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	678					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCTTATTGTAAGTTTTCTGAC	0.428																																																	0													97	100	99					19																	57327776		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2034T>G	19.37:g.57327776A>C			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T678	ENST00000326441.9	37	c.2034	CCDS12948.1	19																																																																																			PEG3	-	NULL	ENSG00000198300		0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	49	0	A			57327776	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	37.50	25	15	SNP	0.240	C	C	57327776	A	C	57327776	2	2	12	1	0	0	0	0	0	0	0	1	11759	59	3	4		4	PEG3	19	57327776	Silent	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	2202	57327776	1801207	410	3513											
RSPO4	343637	genome.wustl.edu	37	chr20	941070	941070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctgtccttgcgtgggCgccggtccttcctgcccttc	0	13	11	17	3	0	0	0	0	0	0	5	0	4	0	6	2	2	1	6	2	0	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:941070C>T	ENST00000217260.4	-	5	731	c.635G>A	c.(634-636)cGc>cAc	p.R212H	RSPO4_ENST00000400634.2_Missense_Mutation_p.R150H	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	212					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTGCGTGGGCGCCGGTCCTT	0.692																																																	0													12	16	15					20																	941070		1895	4008	5903	SO:0001583	missense	0			AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.635G>A	20.37:g.941070C>T	ENSP00000217260:p.Arg212His		A2A2I6|Q9UGB2	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R212H	ENST00000217260.4	37	c.635	CCDS42846.1	20	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009855	0.54361	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	T;D	0.90133	-1.23;-2.62	4.14	3.09	0.35607	.	0.636430	0.12705	N	0.446007	D	0.90452	0.7010	L	0.29908	0.895	0.18873	N	0.999985	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.80993	-0.1134	10	0.72032	D	0.01	-20.685	9.0851	0.36577	0.0:0.7749:0.2251:0.0	.	150;212	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	H	212;150	ENSP00000217260:R212H;ENSP00000383475:R150H	ENSP00000217260:R212H	R	-	2	0	RSPO4	889070	0.933000	0.31639	0.660000	0.29694	0.974000	0.67602	1.641000	0.37197	2.256000	0.74724	0.556000	0.70494	CGC	RSPO4	-	NULL	ENSG00000101282		0.692	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO4	HGNC	protein_coding	OTTHUMT00000077492.3	-	0	91	0	C	XM_297816		941070	-1	tier1	-	no_errors	ENST00000217260	ensembl	human	known	74_37	missense	35.80	51	29	SNP	0.454	T	T	941070	C	T	941070	3	4	12	1	0	0	0	0	1	0	0	0	13757	768	27	1	73	1	RSPO4	20	941070	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09		941070	62084450	411	3514											
PDYN	5173	genome.wustl.edu	37	chr20	1961103	1961103	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgggacgaatgcgccgcaAgaagcccccatagcgtttgt	9	8	12	12	4	0	1	0	0	0	1	0	3	0	2	3	1	3	2	3	1	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:1961103A>C	ENST00000217305.2	-	4	856	c.631T>G	c.(631-633)Ttg>Gtg	p.L211V	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.L211V|PDYN_ENST00000539905.1_Missense_Mutation_p.L211V	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	211			L -> S (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; these results suggest slow conversion of dynorphin A to short enkephalins; mutant S-211 dynorphin A is not neurotoxic to cultured striatal neurons). {ECO:0000269|PubMed:21035104}.		cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCGCCGCAAGAAGCCCCCA	0.587																																																	0													103	113	110					20																	1961103		2203	4300	6503	SO:0001583	missense	0				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"Endogenous ligands"	8820	protein-coding gene	gene with protein product	"preproenkephalin B", "rimorphin", "beta-neoendorphin", "dynorphin", "leu-enkephalin", "leumorphin", "neoendorphin-dynorphin-enkephalin prepropeptide"	131340	"spinocerebellar ataxia 23"	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.631T>G	20.37:g.1961103A>C	ENSP00000217305:p.Leu211Val		A8K0Q3	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept	p.L211V	ENST00000217305.2	37	c.631	CCDS13023.1	20	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687427	0.68157	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.81739	-1.53;-1.53;-1.53	5.0	-2.32	0.06745	.	0.118991	0.52532	N	0.000078	T	0.73830	0.3637	M	0.64404	1.975	0.38535	D	0.94906	D	0.60160	0.987	P	0.48425	0.577	T	0.69650	-0.5088	10	0.62326	D	0.03	-8.1026	1.5849	0.02642	0.5032:0.1311:0.2215:0.1442	.	211	P01213	PDYN_HUMAN	V	211	ENSP00000440185:L211V;ENSP00000442259:L211V;ENSP00000217305:L211V	ENSP00000217305:L211V	L	-	1	2	PDYN	1909103	0.866000	0.29940	0.912000	0.35992	0.983000	0.72400	-0.122000	0.10627	-0.179000	0.10654	0.260000	0.18958	TTG	PDYN	-	prints_Proenkphlin_B	ENSG00000101327		0.587	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDYN	HGNC	protein_coding	OTTHUMT00000077569.2	-	0	63	0	A			1961103	-1	tier1	-	no_errors	ENST00000217305	ensembl	human	known	74_37	missense	32.98	63	31	SNP	0.995	C	C	1961103	A	C	1961103	3	2	12	1	0	0	0	0	1	0	0	0	11738	69	3	4	137	4	PDYN	20	1961103	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1020033	1961103	61064417	412	3515											
FASTKD5	60493	genome.wustl.edu	37	chr20	3128913	3128913	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccagtgcaaattaagAtaactagaaaaaatgtttaa	18	12	5	6	0	0	2	0	0	0	2	2	2	2	2	2	0	2	2	2	0	8	6	rs371948260		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:3128913A>T	ENST00000380266.3	-	2	1125	c.804T>A	c.(802-804)taT>taA	p.Y268*	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	268					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GCAAATTAAGATAACTAGAAA	0.388																																																	0													50	53	52					20																	3128913		2201	4300	6501	SO:0001587	stop_gained	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.804T>A	20.37:g.3128913A>T	ENSP00000369618:p.Tyr268*		Q96JN3|Q9H5D1|Q9H8Y3	Nonsense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.Y268*	ENST00000380266.3	37	c.804	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633496	0.67015	.	.	ENSG00000215251	ENST00000380266	.	.	.	5.77	-5.09	0.02920	.	0.080371	0.51477	D	0.000087	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.68	14.8968	0.70649	0.4732:0.0:0.5268:0.0	.	.	.	.	X	268	.	ENSP00000369618:Y268X	Y	-	3	2	FASTKD5	3076913	0.006000	0.16342	0.967000	0.41034	0.222000	0.24845	-0.942000	0.03921	-0.778000	0.04566	0.377000	0.23210	TAT	FASTKD5	-	NULL	ENSG00000215251		0.388	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	-	0	33	0	A	NM_021826		3128913	-1	tier1	-	no_errors	ENST00000380266	ensembl	human	known	74_37	nonsense	40.00	24	16	SNP	0.825	T	T	3128913	A	T	3128913	4	4	12	1	0	0	0	0	0	1	0	0	5710	340	12	5	1494	5	FASTKD5	20	3128913	Nonsense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1167810	3128913	59896607	413	3516											
LRRN4	164312	genome.wustl.edu	37	chr20	6022692	6022692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacactctgctggtctcccGcaggccgggtggcgggggct	4	7	17	13	3	2	1	0	0	2	1	3	1	2	1	2	6	1	3	2	6	0	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:6022692G>A	ENST00000378858.4	-	5	1423	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	400					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGGTCTCCCGCAGGCCGGGT	0.687																																																	0													46	46	46					20																	6022692		2203	4299	6502	SO:0001583	missense	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1199C>T	20.37:g.6022692G>A	ENSP00000368135:p.Ala400Val		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A400V	ENST00000378858.4	37	c.1199	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208530	0.22205	.	.	ENSG00000125872	ENST00000378858	T	0.58797	0.31	4.39	-6.76	0.01732	.	3.574140	0.01351	N	0.011907	T	0.37839	0.1018	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.10870	-1.0611	10	0.30078	T	0.28	2.9181	4.0364	0.09731	0.0744:0.2068:0.2698:0.4491	.	400	Q8WUT4	LRRN4_HUMAN	V	400	ENSP00000368135:A400V	ENSP00000368135:A400V	A	-	2	0	LRRN4	5970692	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.250000	0.02885	-1.561000	0.01684	-1.367000	0.01198	GCG	LRRN4	-	NULL	ENSG00000125872		0.687	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	-	0	46	0	G	NM_152611		6022692	-1	tier1	-	no_errors	ENST00000378858	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	A	A	6022692	G	A	6022692	3	1	12	1	0	0	0	0	1	0	0	0	9072	1087	38	1	1027	1	LRRN4	20	6022692	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	2893779	6022692	57002828	414	3517											
RIN2	54453	genome.wustl.edu	37	chr20	19981543	19981543	+	Frame_Shift_Del	DEL	T	T	-																															gaacgatccttatggcatcaTtttccagaacggggaagaag																								rs555805677		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:19981543delT	ENST00000255006.6	+	12	2947	c.2798delT	c.(2797-2799)attfs	p.I933fs	RIN2_ENST00000440354.2_Frame_Shift_Del_p.I451fs|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	884					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TATGGCATCATTTTCCAGAAC	0.532																																																	0													61	63	62					20																	19981543		1990	4170	6160	SO:0001589	frameshift_variant	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2798delT	20.37:g.19981543delT	ENSP00000255006:p.Ile933fs		Q00425|Q5TFT8|Q9BQL3|Q9H071	Frame_Shift_Del	DEL	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.F934fs	ENST00000255006.6	37	c.2798	CCDS56182.1	20																																																																																			RIN2	-	NULL	ENSG00000132669		0.532	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1		0	46	0	T			19981543	1	tier1		no_errors	ENST00000255006	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.631	-	-	19981543	T	-	19981543	7	5	12	1	0	1	0	1	0	0	0	0	13417	1493	52	0	2693	0	RIN2	20	19981543	Frame_Shift_Del	DEL	T	TCGA-2H-A9GR-01A-12D-A37C-09	13958851	19981543	43043977	415	3518											
RALGAPA2	57186	genome.wustl.edu	37	chr20	20484080	20484080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaggtagcatagtaaGgggccgtctgcccggtgctg	7	9	16	9	2	1	1	0	1	1	0	1	1	1	1	2	4	3	5	2	4	3	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:20484080G>A	ENST00000202677.7	-	35	5130	c.5123C>T	c.(5122-5124)cCt>cTt	p.P1708L		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1708	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGCATAGTAAGGGGCCGTCTG	0.522																																																	0													70	71	70					20																	20484080		1984	4173	6157	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.5123C>T	20.37:g.20484080G>A	ENSP00000202677:p.Pro1708Leu		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.P1708L	ENST00000202677.7	37	c.5123	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.108112|5.108112	0.94292|0.94292	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436;ENST00000427175|ENST00000417022;ENST00000202677	.|D;D	.|0.94576	.|-3.46;-3.46	5.75|5.75	5.75|5.75	0.90469|0.90469	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96611|0.96611	0.8894|0.8894	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.89917	.|0.933;1.0;1.0	.|D;D;D	.|0.97110	.|0.958;0.999;1.0	D|D	0.96336|0.96336	0.9247|0.9247	5|10	.|0.54805	.|T	.|0.06	.|.	19.9376|19.9376	0.97146|0.97146	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1546;1708;1708	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	F|L	1525;119|138;1708	.|ENSP00000408332:P138L;ENSP00000202677:P1708L	.|ENSP00000202677:P1708L	L|P	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20432080|20432080	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.634000|0.634000	0.38068|0.38068	9.799000|9.799000	0.99117|0.99117	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	CTT|CCT	RALGAPA2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000188559		0.522	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	-	0	53	0	G	NM_020343		20484080	-1	tier1	-	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	A	A	20484080	G	A	20484080	3	1	12	1	0	0	0	0	1	0	0	0	13059	1000	35	3	518	3	RALGAPA2	20	20484080	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	502537	20484080	42541440	416	3519											
FAM83D	81610	genome.wustl.edu	37	chr20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-																															agaggccgggagaggagggcGcggcggcggcggcggcggcc																								rs570408132	byFrequency	TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719														78	0.0155751	0.056	0.0029	5008	,	,		15546	0		0	False		,,,				2504	0.002																0										14,115,1361		5,0,4,42,31,663						2.4	1			2	250,104,3726		71,1,107,26,51,1784	no	codingComplex	FAM83D	NM_030919.2		76,1,111,68,82,2447	A1A1,A1A2,A1R,A2A2,A2R,RR		8.6765,8.6577,8.6715				264,219,5087				SO:0001651	inframe_deletion	0			AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 129"	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.328_330delGCG	20.37:g.37555332_37555334delGCG	ENSP00000217429:p.Ala116del		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Del	DEL	pfam_DUF1669	p.A113in_frame_del	ENST00000217429.4	37	c.328_330	CCDS42872.1	20																																																																																			FAM83D	-	pfam_DUF1669	ENSG00000101447		0.719	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83D	HGNC	protein_coding	OTTHUMT00000079211.1		0	8	0	GCG			37555325	1	tier1		no_errors	ENST00000217429	ensembl	human	known	74_37	in_frame_del	33.33	6	3	DEL	0.991:0.983:0.979	-	-	37555325	GCG	-	37555323	7	5	12	1	0	1	0	1	0	0	0	0	5658	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-2H-A9GR-01A-12D-A37C-09	17071243	37555323	25470197	417	3520											
MAFB	9935	genome.wustl.edu	37	chr20	39316865	39316865	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcgtcggagaagcggTcctccacgctgccgttgccg	4	8	15	14	6	0	1	0	0	0	1	4	2	2	1	4	3	3	3	4	3	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:39316865T>C	ENST00000373313.2	-	1	1015	c.626A>G	c.(625-627)gAc>gGc	p.D209G	MAFB_ENST00000396967.1_Missense_Mutation_p.D209G	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	209					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				GGAGAAGCGGTCCTCCACGCT	0.726			T	IGH@	MM																																			Dom	yes		20	20q11.2-q13.1	9935	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)		L	0													6	6	6					20																	39316865		2149	4221	6370	SO:0001583	missense	0			AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"Kreisler (mouse) maf-related leucine zipper homolog"	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.626A>G	20.37:g.39316865T>C	ENSP00000362410:p.Asp209Gly		B3KNE1|Q9H1F1	Missense_Mutation	SNP	pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.D209G	ENST00000373313.2	37	c.626	CCDS13311.1	20	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304092	0.81136	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.97731	-4.51;-4.51	4.34	4.34	0.51931	Maf transcription factor (1);	0.231169	0.40728	N	0.001037	D	0.97882	0.9304	M	0.69823	2.125	0.80722	D	1	P	0.52316	0.952	P	0.57720	0.826	D	0.97583	1.0112	10	0.40728	T	0.16	-10.3824	13.7202	0.62723	0.0:0.0:0.0:1.0	.	209	Q9Y5Q3	MAFB_HUMAN	G	209	ENSP00000362410:D209G;ENSP00000380167:D209G	ENSP00000362410:D209G	D	-	2	0	MAFB	38750279	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.820000	0.86633	1.843000	0.53566	0.374000	0.22700	GAC	MAFB	-	pfam_bZIP_Maf	ENSG00000204103		0.726	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFB	HGNC	protein_coding	OTTHUMT00000080375.2	-	0	21	0	T			39316865	-1	tier1	-	no_errors	ENST00000373313	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	C	C	39316865	T	C	39316865	3	2	12	1	0	0	0	0	1	0	0	0	9194	1667	58	4	349	4	MAFB	20	39316865	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	1761542	39316865	23708655	418	3521											
PTPRT	11122	genome.wustl.edu	37	chr20	40944511	40944511	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcttcaactcagcagcaAagtagtgtagagaatcgagg	14	7	12	8	1	2	1	2	0	0	1	3	3	2	1	0	2	3	5	0	2	5	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:40944511A>C	ENST00000373187.1	-	12	1990	c.1991T>G	c.(1990-1992)tTt>tGt	p.F664C	PTPRT_ENST00000373201.1_Missense_Mutation_p.F664C|PTPRT_ENST00000373184.1_Missense_Mutation_p.F664C|PTPRT_ENST00000373198.4_Missense_Mutation_p.F664C|PTPRT_ENST00000356100.2_Missense_Mutation_p.F664C|PTPRT_ENST00000373193.3_Missense_Mutation_p.F664C|PTPRT_ENST00000373190.1_Missense_Mutation_p.F664C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	664	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCAGCAGCAAAGTAGTGTAG	0.527																																																	0													132	131	132					20																	40944511		2012	4157	6169	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1991T>G	20.37:g.40944511A>C	ENSP00000362283:p.Phe664Cys		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.F664C	ENST00000373187.1	37	c.1991	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829627	0.71258	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.36878	1.27;1.26;1.26;1.23;1.23;1.27;1.26	5.57	5.57	0.84162	.	0.105237	0.64402	D	0.000003	T	0.61578	0.2358	M	0.80847	2.515	0.53688	D	0.999972	D;D	0.71674	0.998;0.996	D;P	0.65987	0.94;0.873	T	0.67546	-0.5643	10	0.87932	D	0	.	15.7373	0.77856	1.0:0.0:0.0:0.0	.	664;664	O14522-1;O14522	.;PTPRT_HUMAN	C	664	ENSP00000362286:F664C;ENSP00000362283:F664C;ENSP00000362289:F664C;ENSP00000348408:F664C;ENSP00000362294:F664C;ENSP00000362280:F664C;ENSP00000362297:F664C	ENSP00000348408:F664C	F	-	2	0	PTPRT	40377925	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.179000	0.65043	2.120000	0.65058	0.460000	0.39030	TTT	PTPRT	-	NULL	ENSG00000196090		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	91	0	A			40944511	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	30.86	56	25	SNP	1.000	C	C	40944511	A	C	40944511	3	2	12	1	0	0	0	0	1	0	0	0	12857	14	1	4	2475	4	PTPRT	20	40944511	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	1627646	40944511	22081009	419	3522											
EYA2	2139	genome.wustl.edu	37	chr20	45725790	45725790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttactcacggggacatttGcatccagatacgggaaggta	11	9	11	10	2	1	1	1	0	0	1	2	3	2	3	2	4	3	2	2	4	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:45725790G>A	ENST00000327619.5	+	9	1245	c.871G>A	c.(871-873)Gca>Aca	p.A291T	EYA2_ENST00000357410.3_Missense_Mutation_p.A291T|EYA2_ENST00000317304.6_Missense_Mutation_p.A291T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	291					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GGGGACATTTGCATCCAGATA	0.418																																					Pancreas(120;56 1725 18501 25218 43520)												0													251	233	239					20																	45725790		2203	4300	6503	SO:0001583	missense	0				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.871G>A	20.37:g.45725790G>A	ENSP00000333640:p.Ala291Thr		Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.A291T	ENST00000327619.5	37	c.871	CCDS13403.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.437750	0.96168	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.91	5.91	0.95273	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.051347	0.85682	D	0.000000	D	0.92573	0.7641	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.76494	0.999;0.984;0.996;0.996	D;P;P;P	0.83275	0.996;0.781;0.799;0.799	D	0.92794	0.6251	10	0.87932	D	0	0.4562	20.2985	0.98592	0.0:0.0:1.0:0.0	.	291;291;291;291	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	T	291;291;291;291;162	ENSP00000333640:A291T;ENSP00000349986:A291T;ENSP00000321590:A291T;ENSP00000395427:A162T	ENSP00000321590:A291T	A	+	1	0	EYA2	45159197	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.904000	0.92590	2.793000	0.96121	0.655000	0.94253	GCA	EYA2	-	pfam_HAD-like_dom,tigrfam_EYA	ENSG00000064655		0.418	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	-	0	65	0	G	NM_005244		45725790	1	tier1	-	no_errors	ENST00000327619	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	45725790	G	A	45725790	3	1	12	1	0	0	0	0	1	0	0	0	5345	1319	46	3	901	3	EYA2	20	45725790	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4781279	45725790	17299730	420	3523											
ZNF831	128611	genome.wustl.edu	37	chr20	57767078	57767078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggcccccgagggccGgctgcggaagtgtgagagca	8	4	17	12	3	0	1	0	1	0	1	0	4	0	2	4	4	3	2	4	4	2	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:57767078G>A	ENST00000371030.2	+	1	1004	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	335							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCGAGGGCCGGCTGCGGAAG	0.726																																																	0													12	14	13					20																	57767078		1724	3876	5600	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1004G>A	20.37:g.57767078G>A	ENSP00000360069:p.Arg335Gln		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R335Q	ENST00000371030.2	37	c.1004	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782213	0.49891	.	.	ENSG00000124203	ENST00000371030	T	0.04083	3.71	5.4	2.02	0.26589	.	.	.	.	.	T	0.02304	0.0071	N	0.22421	0.69	0.23645	N	0.997218	P	0.40834	0.73	B	0.24541	0.054	T	0.46428	-0.9192	9	0.23302	T	0.38	-6.3691	5.2893	0.15717	0.581:0.0:0.419:0.0	.	335	Q5JPB2	ZN831_HUMAN	Q	335	ENSP00000360069:R335Q	ENSP00000360069:R335Q	R	+	2	0	ZNF831	57200473	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.022000	0.41030	0.654000	0.30846	-0.136000	0.14681	CGG	ZNF831	-	NULL	ENSG00000124203		0.726	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	35	0	G	NM_178457		57767078	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	18.52	22	5	SNP	1.000	A	A	57767078	G	A	57767078	3	1	12	1	0	0	0	0	1	0	0	0	18233	1116	39	1	1006	1	ZNF831	20	57767078	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	12041288	57767078	5258442	421	3524											
RTEL1	8771	genome.wustl.edu	37	chr20	62326237	62326237	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcttggcagcgctgacaGcctataagcaagacgacgac	13	6	10	12	3	1	2	0	1	1	1	1	4	1	2	1	1	4	3	1	1	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr20:62326237G>T	ENST00000369996.1	+	0	0				RTEL1_ENST00000370018.3_Missense_Mutation_p.A1085S|RTEL1_ENST00000360203.5_Missense_Mutation_p.A1085S|RTEL1_ENST00000318100.4_Missense_Mutation_p.A1085S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A1085S|RTEL1_ENST00000508582.2_Missense_Mutation_p.A1109S|RTEL1_ENST00000370003.1_Missense_Mutation_p.A330S	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGCGCTGACAGCCTATAAGCA	0.657																																																	0													53	55	54					20																	62326237		2190	4280	6470	SO:0001631	upstream_gene_variant	0			AF104419	CCDS13532.1	20q13.33	2012-06-27						"Tumor necrosis factor receptor superfamily"	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724		20.37:g.62326237G>T	Exception_encountered			Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.A1085S	ENST00000369996.1	37	c.3253	CCDS13532.1	20	.	.	.	.	.	.	.	.	.	.	G	8.315	0.823073	0.16678	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	D;D;D;D;T	0.82984	-1.62;-1.67;-1.57;-1.62;0.76	4.76	-1.5	0.08691	.	0.859425	0.10673	N	0.647271	T	0.80974	0.4727	L	0.53249	1.67	0.09310	N	1	P;P;B;P	0.51537	0.492;0.946;0.232;0.492	B;P;B;B	0.48840	0.133;0.592;0.063;0.184	T	0.71290	-0.4637	10	0.42905	T	0.14	-7.1457	9.6744	0.40032	0.3358:0.0:0.6642:0.0	.	1109;330;1085;1085	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	S	1085;1085;1109;1085;330	ENSP00000359035:A1085S;ENSP00000322287:A1085S;ENSP00000424307:A1109S;ENSP00000353332:A1085S;ENSP00000359020:A330S	ENSP00000353332:A1085S	A	+	1	0	AL353715.1	61796681	0.000000	0.05858	0.002000	0.10522	0.020000	0.10135	-1.250000	0.02885	-0.296000	0.08947	0.462000	0.41574	GCC	RTEL1	-	NULL	ENSG00000258366		0.657	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000080182.1	-	0	48	0	G			62326237	1	tier1	-	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	42.50	23	17	SNP	0.000	T	T	62326237	G	T	62326237	1	4	12	0	1	0	0	0	0	0	0	0	13765	971	34	3		3	RTEL1	20	62326237	5'Flank	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4559159	62326237	699283	422	3525											
SAMSN1	64092	genome.wustl.edu	37	chr21	15872860	15872860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgctcacctgcagatgaAtcctctctaggaactcctgc	9	12	7	13	0	2	2	1	1	1	1	5	3	4	3	3	1	4	2	3	1	3	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr21:15872860A>C	ENST00000400566.1	-	6	839	c.758T>G	c.(757-759)aTt>aGt	p.I253S	SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000285670.2_Missense_Mutation_p.I321S|SAMSN1_ENST00000400564.1_Missense_Mutation_p.I85S	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	253	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTGCAGATGAATCCTCTCTAG	0.433																																																	0													93	87	89					21																	15872860		1852	4101	5953	SO:0001583	missense	0			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.758T>G	21.37:g.15872860A>C	ENSP00000383411:p.Ile253Ser		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.I253S	ENST00000400566.1	37	c.758	CCDS42906.1	21	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435545	0.83885	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.88046	-2.33;-2.33;-2.33	5.63	5.63	0.86233	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.113015	0.64402	D	0.000012	D	0.91831	0.7415	M	0.83953	2.67	0.45837	D	0.998707	D;D;D	0.63880	0.96;0.993;0.958	P;P;P	0.53649	0.677;0.731;0.678	D	0.93087	0.6496	10	0.87932	D	0	-18.7911	15.841	0.78845	1.0:0.0:0.0:0.0	.	85;321;253	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	S	321;253;85	ENSP00000285670:I321S;ENSP00000383411:I253S;ENSP00000383409:I85S	ENSP00000285670:I321S	I	-	2	0	SAMSN1	14794731	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.962000	0.93254	2.147000	0.66899	0.528000	0.53228	ATT	SAMSN1	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SAM,pfscan_SAM	ENSG00000155307		0.433	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	-	0	89	0	A			15872860	-1	tier1	-	no_errors	ENST00000400566	ensembl	human	known	74_37	missense	21.13	56	15	SNP	1.000	C	C	15872860	A	C	15872860	3	2	12	1	0	0	0	0	1	0	0	0	13875	101	4	4	375	4	SAMSN1	21	15872860	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09		15872860	32257035	423	3526											
ADAMTS1	9510	genome.wustl.edu	37	chr21	28214671	28214671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttacctgtctggtgaaaAgaattgctgtgtcatagtgc	9	14	10	8	0	3	2	1	1	2	1	3	2	3	2	1	1	3	1	1	1	5	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr21:28214671A>G	ENST00000284984.3	-	2	1518	c.1064T>C	c.(1063-1065)cTt>cCt	p.L355P		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	355	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L355R(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TCTGGTGAAAAGAATTGCTGT	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											80	56	64					21																	28214671		2203	4300	6503	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1064T>C	21.37:g.28214671A>G	ENSP00000284984:p.Leu355Pro		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.L355P	ENST00000284984.3	37	c.1064	CCDS33524.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.28|18.28	3.589975|3.589975	0.66105|0.66105	.|.	.|.	ENSG00000154734|ENSG00000154734	ENST00000451462|ENST00000284984;ENST00000517777;ENST00000517452	.|T;T;T	.|0.79554	.|-1.28;-1.28;-1.28	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.|.	.|.	.|.	.|.	D|D	0.92867|0.92867	0.7731|0.7731	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95002|0.95002	0.8144|0.8144	5|9	.|0.87932	.|D	.|0	.|.	15.3726|15.3726	0.74577|0.74577	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|355	.|Q9UHI8	.|ATS1_HUMAN	L|P	137|355;93;117	.|ENSP00000284984:L355P;ENSP00000429557:L93P;ENSP00000431065:L117P	.|ENSP00000284984:L355P	F|L	-|-	1|2	0|0	ADAMTS1|ADAMTS1	27136542|27136542	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.589000|0.589000	0.36550|0.36550	9.139000|9.139000	0.94554|0.94554	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	TTT|CTT	ADAMTS1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000154734		0.488	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	-	0	54	0	A			28214671	-1	tier1	-	no_errors	ENST00000284984	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.999	G	G	28214671	A	G	28214671	3	3	12	1	0	0	0	0	1	0	0	0	255	72	3	4	1871	4	ADAMTS1	21	28214671	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	12341811	28214671	19915224	424	3527											
DOPEY2	9980	genome.wustl.edu	37	chr21	37609579	37609579	+	Frame_Shift_Del	DEL	G	G	-																															gagggtggctcgtgtgctttGgaatcagctgaacaaagaga																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr21:37609579delG	ENST00000399151.3	+	16	2727	c.2642delG	c.(2641-2643)tggfs	p.W881fs		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	881					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTGTGCTTTGGAATCAGCTG	0.587																																																	0													102	87	92					21																	37609579		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.2642delG	21.37:g.37609579delG	ENSP00000382104:p.Trp881fs		D3DSG5|Q6PJQ7|Q9UEZ3	Frame_Shift_Del	DEL	pfam_Dopey_N	p.W881fs	ENST00000399151.3	37	c.2642	CCDS13643.1	21																																																																																			DOPEY2	-	NULL	ENSG00000142197		0.587	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1		0	42	0	G	NM_005128		37609579	1	tier1		no_errors	ENST00000399151	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	37609579	G	-	37609579	7	5	12	1	0	1	0	1	0	0	0	0	4722	1357	47	0	2700	0	DOPEY2	21	37609579	Frame_Shift_Del	DEL	G	TCGA-2H-A9GR-01A-12D-A37C-09	9394908	37609579	10520316	425	3528											
HLCS	3141	genome.wustl.edu	37	chr21	38139568	38139568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actattaagcccatttcctgCggtgtctgaaacatcagcct	10	12	7	12	1	2	1	1	1	1	0	3	1	3	1	3	1	4	0	3	1	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr21:38139568C>T	ENST00000399120.1	-	8	2700	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P	HLCS_ENST00000336648.4_Silent_p.P490P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	490	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.P490P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCATTTCCTGCGGTGTCTGAA	0.547																																																	1	Substitution - coding silent(1)	endometrium(1)											109	92	98					21																	38139568		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1470G>A	21.37:g.38139568C>T			B2RAH1|D3DSG6|Q99451	Silent	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.P490	ENST00000399120.1	37	c.1470	CCDS13647.1	21																																																																																			HLCS	-	pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase	ENSG00000159267		0.547	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	-	0	41	0	C			38139568	-1	tier1	-	no_errors	ENST00000336648	ensembl	human	known	74_37	silent	11.63	38	5	SNP	0.022	T	T	38139568	C	T	38139568	2	4	12	1	0	0	0	0	0	0	0	1	7240	755	27	1		1	HLCS	21	38139568	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	529989	38139568	9990327	426	3529											
PSMG1	8624	genome.wustl.edu	37	chr21	40551881	40551881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatactgttgatcttctGcaacatagcaactgcactga	12	12	7	10	0	2	3	0	3	2	0	2	3	2	3	0	0	6	4	0	0	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr21:40551881G>T	ENST00000331573.3	-	4	890	c.425C>A	c.(424-426)gCa>gAa	p.A142E	PSMG1_ENST00000380900.2_Intron	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	142					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TTGATCTTCTGCAACATAGCA	0.378																																																	0													103	93	96					21																	40551881		2203	4300	6503	SO:0001583	missense	0			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"Down syndrome critical region gene 2"	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.425C>A	21.37:g.40551881G>T	ENSP00000329915:p.Ala142Glu		B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Missense_Mutation	SNP	pirsf_Proteasome_assmbl_chp_1	p.A142E	ENST00000331573.3	37	c.425	CCDS13660.1	21	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404140	0.83230	.	.	ENSG00000183527	ENST00000331573	T	0.49139	0.79	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66002	-0.6031	10	0.42905	T	0.14	-26.3849	19.1586	0.93522	0.0:0.0:1.0:0.0	.	142	O95456	PSMG1_HUMAN	E	142	ENSP00000329915:A142E	ENSP00000329915:A142E	A	-	2	0	PSMG1	39473751	1.000000	0.71417	0.939000	0.37840	0.968000	0.65278	6.541000	0.73865	2.873000	0.98535	0.563000	0.77884	GCA	PSMG1	-	pirsf_Proteasome_assmbl_chp_1	ENSG00000183527		0.378	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	HGNC	protein_coding	OTTHUMT00000141404.2	-	0	49	0	G	NM_003720		40551881	-1	tier1	-	no_errors	ENST00000331573	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.997	T	T	40551881	G	T	40551881	3	4	12	1	0	0	0	0	1	0	0	0	12753	1319	46	3	457	3	PSMG1	21	40551881	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	2412313	40551881	7578014	427	3530											
C2CD2	25966	genome.wustl.edu	37	chr21	43327823	43327823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcagacccgctggtcagCgtgaagctctgtggcccaga	8	6	14	13	2	2	3	1	1	1	2	2	3	2	3	2	3	2	3	2	3	1	0			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr21:43327823C>T	ENST00000380486.3	-	9	1330	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	C2CD2_ENST00000329623.7_Silent_p.T208T	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	363						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGCTGGTCAGCGTGAAGCTCT	0.647																																																	0													26	30	29					21																	43327823		2203	4300	6503	SO:0001819	synonymous_variant	0			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.1089G>A	21.37:g.43327823C>T			Q5R2V7|Q6AHX8|Q9NSE6	Silent	SNP	pfam_C2_dom,superfamily_C2_dom	p.T363	ENST00000380486.3	37	c.1089	CCDS42933.1	21																																																																																			C2CD2	-	superfamily_C2_dom	ENSG00000157617		0.647	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	-	0	81	0	C	NM_015500		43327823	-1	tier1	-	no_errors	ENST00000380486	ensembl	human	known	74_37	silent	11.11	40	5	SNP	0.000	T	T	43327823	C	T	43327823	2	4	12	1	0	0	0	0	0	0	0	1	2159	755	27	1		1	C2CD2	21	43327823	Silent	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	2775942	43327823	4802072	428	3531											
COL6A1	1291	genome.wustl.edu	37	chr21	47412126	47412126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagaaaggagaggcgggcGacgaggtgagtgagggctcc	11	3	21	6	3	0	4	0	2	0	2	1	9	1	4	1	5	0	1	1	5	1	0	rs575394639		TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr21:47412126G>A	ENST00000361866.3	+	17	1345	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	411	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGAGGCGGGCGACGAGGTGAG	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		13478	0		0	False		,,,				2504	0																0													52	60	57					21																	47412126		2200	4300	6500	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1231G>A	21.37:g.47412126G>A	ENSP00000355180:p.Asp411Asn		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D411N	ENST00000361866.3	37	c.1231	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497725	0.44455	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.90504	-2.68	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	L	0.38531	1.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89583	0.3822	10	0.18710	T	0.47	-12.3784	16.2255	0.82286	0.0:0.0:1.0:0.0	.	411	P12109	CO6A1_HUMAN	N	411	ENSP00000355180:D411N	ENSP00000355180:D411N	D	+	1	0	COL6A1	46236554	1.000000	0.71417	0.895000	0.35142	0.064000	0.16182	4.314000	0.59166	2.162000	0.67917	0.467000	0.42956	GAC	COL6A1	-	pfam_Collagen	ENSG00000142156		0.632	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	137	0	G	NM_001848		47412126	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	7.45	87	7	SNP	1.000	A	A	47412126	G	A	47412126	3	1	12	1	0	0	0	0	1	0	0	0	3706	1058	37	1	1297	1	COL6A1	21	47412126	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4084303	47412126	717769	429	3532											
ATP6V1E1	529	genome.wustl.edu	37	chr22	18075498	18075498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctccccggacttctggcAtcatctgtggagagaaagtg	9	9	13	10	1	3	1	1	0	2	1	4	4	4	3	2	4	0	2	2	4	1	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr22:18075498A>T	ENST00000253413.5	-	9	805	c.623T>A	c.(622-624)aTg>aAg	p.M208K	ATP6V1E1_ENST00000399796.2_Missense_Mutation_p.M178K|ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.M186K	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	208					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting two-sector ATPase complex, catalytic domain (GO:0033178)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		GACTTCTGGCATCATCTGTGG	0.453																																																	0													111	102	105					22																	18075498		2203	4300	6503	SO:0001583	missense	0			X76228	CCDS13745.1, CCDS42977.1, CCDS42978.1	22q11.2	2010-04-21	2006-01-13	2002-06-21	ENSG00000131100	ENSG00000131100	3.6.3.14	"ATPases / V-type"	857	protein-coding gene	gene with protein product		108746	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD", "ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E isoform 1"	ATP6E, ATP6V1E		8004105, 8250920	Standard	NM_001696		Approved	P31, Vma4, ATP6E2	uc002zmr.1	P36543	OTTHUMG00000059320	ENST00000253413.5:c.623T>A	22.37:g.18075498A>T	ENSP00000253413:p.Met208Lys		A8MUE4|A8MUN4	Missense_Mutation	SNP	pfam_ATPase_V1/A1-cplx_esu	p.M208K	ENST00000253413.5	37	c.623	CCDS13745.1	22	.	.	.	.	.	.	.	.	.	.	A	13.38	2.219280	0.39201	.	.	ENSG00000131100	ENST00000253413;ENST00000399796;ENST00000399798	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	L	0.57536	1.79	0.80722	D	1	B;P;B	0.40731	0.154;0.728;0.154	B;P;B	0.45794	0.309;0.493;0.371	T	0.66677	-0.5863	9	0.87932	D	0	-22.7598	13.7019	0.62613	1.0:0.0:0.0:0.0	.	186;178;208	A8MUE4;A8MUN4;P36543	.;.;VATE1_HUMAN	K	208;178;186	.	ENSP00000253413:M208K	M	-	2	0	ATP6V1E1	16455498	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.889000	0.87307	2.127000	0.65507	0.528000	0.53228	ATG	ATP6V1E1	-	pfam_ATPase_V1/A1-cplx_esu	ENSG00000131100		0.453	ATP6V1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1E1	HGNC	protein_coding	OTTHUMT00000131790.3		0	67	0	A	NM_001696		18075498	-1			no_errors	ENST00000253413	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	18075498	A	T	18075498	3	4	12	1	0	0	0	0	1	0	0	0	1184	217	8	5	61	5	ATP6V1E1	22	18075498	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09		18075498	33229068	430	3533											
MYO18B	84700	genome.wustl.edu	37	chr22	26399252	26399252	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagacggcagtggattgTggcagcagcggccgaaaaga	11	5	16	9	3	0	2	0	0	0	2	1	4	1	3	2	4	2	3	2	4	2	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr22:26399252T>A	ENST00000407587.2	+	41	6481	c.6312T>A	c.(6310-6312)tgT>tgA	p.C2104*	MYO18B_ENST00000335473.7_Nonsense_Mutation_p.C2103*|MYO18B_ENST00000536101.1_Nonsense_Mutation_p.C2103*			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2103						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGTGGATTGTGGCAGCAGCG	0.527																																																	0													53	63	60					22																	26399252		2055	4187	6242	SO:0001587	stop_gained	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6312T>A	22.37:g.26399252T>A	ENSP00000386096:p.Cys2104*		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C2103*	ENST00000407587.2	37	c.6309		22	.	.	.	.	.	.	.	.	.	.	T	46	12.550317	0.99677	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	.	.	.	3.97	0.695	0.18070	.	0.416858	0.21877	N	0.067782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	6.0129	0.19586	0.0:0.3328:0.0:0.6672	.	.	.	.	X	2103;2103;2104	.	ENSP00000334563:C2103X	C	+	3	2	MYO18B	24729252	0.059000	0.20769	0.009000	0.14445	0.393000	0.30537	0.215000	0.17562	0.050000	0.15949	0.455000	0.32223	TGT	MYO18B	-	NULL	ENSG00000133454		0.527	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	62	0	T	NM_032608		26399252	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	0.013	A	A	26399252	T	A	26399252	4	1	12	1	0	0	0	0	0	1	0	0	10104	1702	59	5	6467	5	MYO18B	22	26399252	Nonsense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	8323754	26399252	24905314	431	3534											
MORC2	22880	genome.wustl.edu	37	chr22	31330171	31330171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacactccgcttccgactaGgggtagcctagagcaagagg	10	6	13	12	3	0	2	0	0	0	2	2	4	2	2	3	3	2	3	3	3	4	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr22:31330171G>A	ENST00000397641.3	-	20	2609	c.2201C>T	c.(2200-2202)cCt>cTt	p.P734L	MORC2_ENST00000469915.1_5'Flank|MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.P672L			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	734						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTCCGACTAGGGGTAGCCTA	0.537																																																	0													98	76	84					22																	31330171		2203	4300	6503	SO:0001583	missense	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2201C>T	22.37:g.31330171G>A	ENSP00000380763:p.Pro734Leu		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.P734L	ENST00000397641.3	37	c.2201		22	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323825	0.41096	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.11063	2.82;2.81	5.74	4.66	0.58398	.	0.878590	0.10106	N	0.715293	T	0.14743	0.0356	L	0.51422	1.61	0.09310	N	0.999999	B	0.09022	0.002	B	0.14023	0.01	T	0.08806	-1.0704	10	0.39692	T	0.17	.	16.2885	0.82736	0.0:0.1893:0.8106:0.0	.	734	Q9Y6X9	MORC2_HUMAN	L	734;672	ENSP00000380763:P734L;ENSP00000215862:P672L	ENSP00000215862:P672L	P	-	2	0	MORC2	29660171	0.015000	0.18098	0.237000	0.24090	0.273000	0.26683	1.021000	0.30040	2.715000	0.92844	0.655000	0.94253	CCT	MORC2	-	NULL	ENSG00000133422		0.537	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	HGNC	protein_coding	OTTHUMT00000321710.2	-	0	104	0	G	NM_014941		31330171	-1	tier1	-	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	33.33	60	30	SNP	0.002	A	A	31330171	G	A	31330171	3	1	12	1	0	0	0	0	1	0	0	0	9740	1000	35	3	925	3	MORC2	22	31330171	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	4930919	31330171	19974395	432	3535											
C22orf28	51493	genome.wustl.edu	37	chr22	32795674	32795674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtactcctcgcagtgctcCttgtcttcagcccaggcata	6	11	8	16	2	2	0	1	0	1	0	5	0	4	0	4	1	3	4	4	1	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chr22:32795674C>A	ENST00000216038.5	-	6	668	c.570G>T	c.(568-570)aaG>aaT	p.K190N	RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_5'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CGCAGTGCTCCTTGTCTTCAG	0.517																																																	0													246	229	235					22																	32795674		2203	4300	6503	SO:0001583	missense	0			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"focal adhesion-associated protein"	613901	"chromosome 22 open reading frame 28"	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.570G>T	22.37:g.32795674C>A	ENSP00000216038:p.Lys190Asn			Missense_Mutation	SNP	pfam_RtcB,superfamily_RtcB	p.K190N	ENST00000216038.5	37	c.570	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683068	0.68157	.	.	ENSG00000100220	ENST00000216038	T	0.30182	1.54	5.61	3.54	0.40534	.	0.042214	0.85682	D	0.000000	T	0.50820	0.1638	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.48854	-0.8998	10	0.54805	T	0.06	-22.2283	10.2159	0.43168	0.0:0.7884:0.0:0.2116	.	190	Q9Y3I0	RTCB_HUMAN	N	190	ENSP00000216038:K190N	ENSP00000216038:K190N	K	-	3	2	C22orf28	31125674	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.053000	0.30442	0.737000	0.32582	-0.137000	0.14449	AAG	RTCB	-	pfam_RtcB,superfamily_RtcB	ENSG00000100220		0.517	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCB	HGNC	protein_coding	OTTHUMT00000075188.3	-	0	81	0	C	NM_014306		32795674	-1	tier1	-	no_errors	ENST00000216038	ensembl	human	known	74_37	missense	15.12	73	13	SNP	1.000	A	A	32795674	C	A	32795674	3	1	12	1	0	0	0	0	1	0	0	0	2147	680	24	3	975	3	C22orf28	22	32795674	Missense_Mutation	SNP	C	TCGA-2H-A9GR-01A-12D-A37C-09	1465503	32795674	18508892	433	3536											
PHKA2	5256	genome.wustl.edu	37	chrX	18936849	18936849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaaagtatgtcccgcGtggagtggatagcactgaag	12	8	13	8	2	1	2	1	1	0	1	2	4	2	4	1	2	1	2	1	2	4	2			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:18936849G>T	ENST00000379942.4	-	19	2752	c.2087C>A	c.(2086-2088)aCg>aAg	p.T696K		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	696					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TATGTCCCGCGTGGAGTGGAT	0.423																																																	0													119	103	109					X																	18936849		2203	4300	6503	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2087C>A	X.37:g.18936849G>T	ENSP00000369274:p.Thr696Lys		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T696K	ENST00000379942.4	37	c.2087	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	g	18.88	3.717876	0.68844	.	.	ENSG00000044446	ENST00000379942	D	0.91124	-2.79	5.72	5.72	0.89469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	M	0.77103	2.36	0.80722	D	1	D	0.53312	0.959	P	0.57620	0.824	D	0.94883	0.8041	10	0.72032	D	0.01	-17.4829	18.4461	0.90685	0.0:0.0:1.0:0.0	.	696	P46019	KPB2_HUMAN	K	696	ENSP00000369274:T696K	ENSP00000369274:T696K	T	-	2	0	PHKA2	18846770	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.949000	0.70257	2.397000	0.81536	0.597000	0.82753	ACG	PHKA2	-	pfam_Glyco_hydro_15	ENSG00000044446		0.423	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	-	0	25	0	G	NM_000292		18936849	-1	tier1	-	no_errors	ENST00000379942	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	18936849	G	T	18936849	3	4	12	1	0	0	0	0	1	0	0	0	11883	1145	40	2	1680	2	PHKA2	23	18936849	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09		18936849	136333711	434	3537											
MAGEB16	139604	genome.wustl.edu	37	chrX	35820811	35820811	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacctagagatgatattTggccttgatgtggtggaggt	9	12	15	5	0	0	3	0	2	0	1	0	6	0	4	2	4	1	1	2	4	2	4			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:35820811T>C	ENST00000399989.1	+	2	777	c.498T>C	c.(496-498)ttT>ttC	p.F166F	MAGEB16_ENST00000399992.1_Silent_p.F198F|MAGEB16_ENST00000399987.1_Silent_p.F166F|MAGEB16_ENST00000399985.1_Silent_p.F166F|MAGEB16_ENST00000399988.1_Silent_p.F166F	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	166	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGATGATATTTGGCCTTGATG	0.478																																																	0													87	86	86					X																	35820811		2098	4205	6303	SO:0001819	synonymous_variant	0				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"melanoma antigen family B, 16 (pseudogene)"			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.498T>C	X.37:g.35820811T>C			A8MU30	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.F198	ENST00000399989.1	37	c.594	CCDS43927.1	X																																																																																			MAGEB16	-	pfam_MAGE,pfscan_MAGE	ENSG00000189023		0.478	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	-	0	34	0	T			35820811	1	tier1	-	no_errors	ENST00000399992	ensembl	human	known	74_37	silent	55.00	9	11	SNP	0.074	C	C	35820811	T	C	35820811	2	2	12	1	0	0	0	0	0	0	0	1	9212	1809	63	4		4	MAGEB16	23	35820811	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	16883962	35820811	119449749	435	3538											
SLC7A3	84889	genome.wustl.edu	37	chrX	70147798	70147798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagagacagcaaaatacGccaaaaagcagacagacagt	21	2	9	9	1	0	4	0	0	0	4	0	5	0	4	1	0	3	2	1	0	6	1			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:70147798G>A	ENST00000374299.3	-	6	1037	c.893C>T	c.(892-894)gCg>gTg	p.A298V	SLC7A3_ENST00000298085.4_Missense_Mutation_p.A298V			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	298					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAAAATACGCCAAAAAGCA	0.502																																																	0													163	130	141					X																	70147798		2203	4300	6503	SO:0001583	missense	0			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.893C>T	X.37:g.70147798G>A	ENSP00000363417:p.Ala298Val		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.A298V	ENST00000374299.3	37	c.893	CCDS14404.1	X	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340949	0.41498	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88431	-2.38;-2.38	5.15	4.28	0.50868	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	N	0.25380	0.74	0.80722	D	1	B	0.22851	0.076	B	0.38378	0.272	T	0.80926	-0.1164	10	0.37606	T	0.19	.	13.238	0.59982	0.0:0.0:0.8403:0.1597	.	298	Q8WY07	CTR3_HUMAN	V	298	ENSP00000363417:A298V;ENSP00000298085:A298V	ENSP00000298085:A298V	A	-	2	0	SLC7A3	70064523	1.000000	0.71417	0.854000	0.33618	0.905000	0.53344	9.489000	0.97949	1.143000	0.42306	0.468000	0.43344	GCG	SLC7A3	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000165349		0.502	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	-	0	21	0	G	NM_032803		70147798	-1	tier1	-	no_errors	ENST00000298085	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.998	A	A	70147798	G	A	70147798	3	1	12	1	0	0	0	0	1	0	0	0	14743	1087	38	1	994	1	SLC7A3	23	70147798	Missense_Mutation	SNP	G	TCGA-2H-A9GR-01A-12D-A37C-09	34326987	70147798	85122762	436	3539											
MED12	9968	genome.wustl.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-																															cagcagcagtaccacatccgGcagcagcagcagcagcagat																										TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0																																										SO:0001651	inframe_deletion	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q2087in_frame_del	ENST00000374080.3	37	c.6249_6251	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1		0	25	0	GCA	NM_005120		70360682	1	tier1		no_errors	ENST00000333646	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	0.997:1.000:1.000	-	-	70360682	GCA	-	70360680	7	5	12	1	0	1	0	1	0	0	0	0	9466	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-2H-A9GR-01A-12D-A37C-09	212882	70360680	84909880	437	3540											
KIAA2022	340533	genome.wustl.edu	37	chrX	73963953	73963953	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattccatgaagcagcctaAgcaagtccgacttggctgca	11	8	11	11	1	0	1	0	1	0	0	2	3	2	2	3	2	4	4	3	2	3	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:73963953A>C	ENST00000055682.6	-	3	1050	c.439T>G	c.(439-441)Tta>Gta	p.L147V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	147					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGCAGCCTAAGCAAGTCCGA	0.483																																																	0													85	74	78					X																	73963953		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.439T>G	X.37:g.73963953A>C	ENSP00000055682:p.Leu147Val		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.L147V	ENST00000055682.6	37	c.439	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790764	0.50102	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.42513	0.97;0.97	6.08	3.74	0.42951	.	0.308416	0.31061	N	0.008324	T	0.50034	0.1592	L	0.44542	1.39	0.44110	D	0.99688	D	0.89917	1.0	D	0.74348	0.983	T	0.48958	-0.8988	10	0.62326	D	0.03	-4.7674	5.8803	0.18852	0.6098:0.0:0.3902:0.0	.	147	Q5QGS0	K2022_HUMAN	V	147	ENSP00000362567:L147V;ENSP00000055682:L147V	ENSP00000055682:L147V	L	-	1	2	KIAA2022	73880678	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.189000	0.50965	0.892000	0.36259	0.486000	0.48141	TTA	KIAA2022	-	NULL	ENSG00000050030		0.483	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	31	0	A	NM_001008537		73963953	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	72.73	6	16	SNP	1.000	C	C	73963953	A	C	73963953	3	2	12	1	0	0	0	0	1	0	0	0	8296	69	3	4	4119	4	KIAA2022	23	73963953	Missense_Mutation	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	3603273	73963953	81306607	438	3541											
HMGN5	79366	genome.wustl.edu	37	chrX	80371811	80371811	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacttgtatctatgttttcTtccatcatatcactttttgt	7	21	4	9	0	4	0	2	0	2	0	5	0	5	0	1	0	0	3	1	0	3	9			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:80371811T>G	ENST00000358130.2	-	6	487	c.159A>C	c.(157-159)gaA>gaC	p.E53D	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	53					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CTATGTTTTCTTCCATCATAT	0.328																																																	0													135	102	113					X																	80371811		2202	4298	6500	SO:0001583	missense	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.159A>C	X.37:g.80371811T>G	ENSP00000350848:p.Glu53Asp		Q5JSL1	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.E53D	ENST00000358130.2	37	c.159	CCDS14448.1	X	.	.	.	.	.	.	.	.	.	.	T	11.38	1.623058	0.28889	.	.	ENSG00000198157	ENST00000358130;ENST00000447319;ENST00000373250;ENST00000430960;ENST00000436386;ENST00000451455	.	.	.	4.67	2.27	0.28462	.	0.224693	0.22560	N	0.058477	T	0.36826	0.0981	N	0.17764	0.52	0.09310	N	1	D	0.61697	0.99	D	0.65233	0.933	T	0.10989	-1.0606	9	0.52906	T	0.07	.	7.0022	0.24815	0.0:0.2913:0.0:0.7087	.	53	P82970	HMGN5_HUMAN	D	53;33;43;53;53;53	.	ENSP00000350848:E53D	E	-	3	2	HMGN5	80258467	0.849000	0.29639	0.005000	0.12908	0.018000	0.09664	0.342000	0.19926	0.241000	0.21283	0.441000	0.28932	GAA	HMGN5	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000198157		0.328	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	-	0	35	0	T	NM_030763		80371811	-1	tier1	-	no_errors	ENST00000358130	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.024	G	G	80371811	T	G	80371811	3	3	12	1	0	0	0	0	1	0	0	0	7265	1606	56	4	697	4	HMGN5	23	80371811	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	6407858	80371811	74898749	439	3542											
NXF5	55998	genome.wustl.edu	37	chrX	101093213	101093213	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctttagggtctcagaTccagtaaagttttcctgaaa	13	13	8	7	0	1	2	1	1	1	1	4	2	3	2	2	1	1	3	2	1	5	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:101093213T>C	ENST00000361708.2	-	13	1178	c.819A>G	c.(817-819)ggA>ggG	p.G273G	NXF5_ENST00000537026.1_Silent_p.G273G|NXF5_ENST00000473265.2_Silent_p.G273G			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	273					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GGGTCTCAGATCCAGTAAAGT	0.502																																																	0													1	1	1					X																	101093213		729	1560	2289	SO:0001819	synonymous_variant	0			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.819A>G	X.37:g.101093213T>C			A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Silent	SNP	pfam_Tap_RNA-bd	p.G273	ENST00000361708.2	37	c.819		X																																																																																			NXF5	-	NULL	ENSG00000126952		0.502	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		-	0	25	0	T			101093213	-1	tier1	-	no_errors	ENST00000263032	ensembl	human	known	74_37	silent	59.52	17	25	SNP	0.768	C	C	101093213	T	C	101093213	2	2	12	1	0	0	0	0	0	0	0	1	10825	1422	50	4		4	NXF5	23	101093213	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	20721402	101093213	54177347	440	3543											
TCEAL2	140597	genome.wustl.edu	37	chrX	101382465	101382465	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccccacgaagggacacTgaagacattccttatgtgta	12	8	11	10	1	0	2	0	1	0	1	1	4	1	3	3	2	0	1	3	2	4	3			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:101382465T>G	ENST00000372780.1	+	3	882	c.663T>G	c.(661-663)acT>acG	p.T221T	TCEAL2_ENST00000329035.2_Silent_p.T221T	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAAGGGACACTGAAGACATTC	0.493																																																	0													65	71	69					X																	101382465		2129	4245	6374	SO:0001819	synonymous_variant	0			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.663T>G	X.37:g.101382465T>G			B2R5C7	Silent	SNP	pfam_TF_A-like/BEX-like	p.T221	ENST00000372780.1	37	c.663	CCDS14496.1	X																																																																																			TCEAL2	-	NULL	ENSG00000184905		0.493	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL2	HGNC	protein_coding	OTTHUMT00000057605.1	-	0	38	0	T	NM_080390		101382465	1	tier1	-	no_errors	ENST00000329035	ensembl	human	known	74_37	silent	39.39	20	13	SNP	0.000	G	G	101382465	T	G	101382465	2	3	12	1	0	0	0	0	0	0	0	1	15718	1567	55	4		4	TCEAL2	23	101382465	Silent	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	289252	101382465	53888095	441	3544											
NRK	203447	genome.wustl.edu	37	chrX	105181573	105181573	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgctgattaccatctcAggtttgtttaagaactaaaa	14	15	6	6	0	1	2	1	1	1	1	2	2	1	2	1	1	3	3	1	1	6	6			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:105181573A>G	ENST00000243300.9	+	22	4101	c.3798A>G	c.(3796-3798)tcA>tcG	p.S1266S	NRK_ENST00000428173.2_Splice_Site_p.S1267S	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1266	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTACCATCTCAGGTTTGTTTA	0.383										HNSCC(51;0.14)																																							0													66	56	59					X																	105181573		1834	4085	5919	SO:0001630	splice_region_variant	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3799+1A>G	X.37:g.105181573A>G			Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.S1267	ENST00000243300.9	37	c.3801		X																																																																																			NRK	-	pfam_Citron,smart_Citron	ENSG00000123572		0.383	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6		0	31	0	A	NM_198465	Silent	105181573	1			no_errors	ENST00000428173	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.697	G	G	105181573	A	G	105181573	5	3	12	1	0	0	0	0	0	0	1	0	10694	202	7	4	3884	4	NRK	23	105181573	Splice_Site	SNP	A	TCGA-2H-A9GR-01A-12D-A37C-09	3799108	105181573	50088987	442	3545											
SLITRK2	84631	genome.wustl.edu	37	chrX	144905921	144905921	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccaggaataccaacaacTtagacgtaagctcctttcaa	14	10	5	12	1	1	1	1	0	0	1	3	2	3	2	3	1	4	2	3	1	7	5			TCGA-2H-A9GR-01A-12D-A37C-09	TCGA-2H-A9GR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	122ce68f-739f-4847-bb70-254c1c862092	db7e7534-137c-4892-abae-b339e839e605	g.chrX:144905921T>G	ENST00000370490.1	+	1	6233	c.1978T>G	c.(1978-1980)Tta>Gta	p.L660V	SLITRK2_ENST00000447897.2_Missense_Mutation_p.L660V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.L660V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L660V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L660V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	660					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L660I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TACCAACAACTTAGACGTAAG	0.458																																																	1	Substitution - Missense(1)	lung(1)											93	82	86					X																	144905921		2203	4300	6503	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1978T>G	X.37:g.144905921T>G	ENSP00000359521:p.Leu660Val		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L660V	ENST00000370490.1	37	c.1978	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	T	0.917	-0.717044	0.03206	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.49720	0.8;0.77;0.77;0.77;0.77;0.77	5.91	2.0	0.26442	.	0.000000	0.64402	D	0.000002	T	0.29817	0.0745	L	0.33485	1.01	0.45883	D	0.99873	B	0.10296	0.003	B	0.06405	0.002	T	0.06679	-1.0813	10	0.35671	T	0.21	-4.1788	3.5022	0.07677	0.1632:0.2818:0.0:0.5549	.	660	Q9H156	SLIK2_HUMAN	V	660	ENSP00000334374:L660V;ENSP00000411681:L660V;ENSP00000359521:L660V;ENSP00000397015:L660V;ENSP00000407347:L660V;ENSP00000412010:L660V	ENSP00000334374:L660V	L	+	1	2	SLITRK2	144713613	0.997000	0.39634	0.881000	0.34555	0.886000	0.51366	0.381000	0.20619	-0.008000	0.14320	-0.438000	0.05819	TTA	SLITRK2	-	NULL	ENSG00000185985		0.458	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0	25	0	T	NM_032539		144905921	1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	missense	75.00	8	24	SNP	1.000	G	G	144905921	T	G	144905921	3	3	12	1	0	0	0	0	1	0	0	0	14788	1606	56	4	1980	4	SLITRK2	23	144905921	Missense_Mutation	SNP	T	TCGA-2H-A9GR-01A-12D-A37C-09	39724348	144905921	10364639	443	3546											
AJAP1	55966	genome.wustl.edu	37	chr1	4772429	4772429	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggggacggtctcagcagcTtcgactccagaggcagccgg	8	5	16	12	3	1	1	1	0	1	1	4	3	2	2	2	5	3	3	2	5	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:4772429T>G	ENST00000378191.4	+	2	880	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V	AJAP1_ENST00000378190.3_Missense_Mutation_p.F167V	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	167					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCTCAGCAGCTTCGACTCCAG	0.701																																																	0													9	10	10					1																	4772429		2173	4266	6439	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.499T>G	1.37:g.4772429T>G	ENSP00000367433:p.Phe167Val		Q9Y229	Missense_Mutation	SNP	NULL	p.F167V	ENST00000378191.4	37	c.499	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.209898	0.39003	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.55760	0.5;0.5	5.25	4.1	0.47936	.	0.097290	0.43416	D	0.000570	T	0.39306	0.1073	L	0.29908	0.895	0.34881	D	0.744569	B	0.20550	0.046	B	0.20955	0.032	T	0.45659	-0.9246	10	0.54805	T	0.06	-13.8258	9.1405	0.36901	0.0:0.0:0.1846:0.8154	.	167	Q9UKB5	AJAP1_HUMAN	V	167	ENSP00000367432:F167V;ENSP00000367433:F167V	ENSP00000367432:F167V	F	+	1	0	AJAP1	4672289	0.532000	0.26346	0.342000	0.25602	0.030000	0.12068	2.227000	0.42972	0.803000	0.34113	-0.644000	0.03951	TTC	AJAP1	-	NULL	ENSG00000196581		0.701	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	-	0	83	0	T	NM_018836		4772429	1	tier1	-	no_errors	ENST00000378190	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.613	G	G	4772429	T	G	4772429	3	3	13	1	0	0	0	0	1	0	0	0	438	1609	56	4	505	4	AJAP1	1	4772429	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09		4772429	244478192	1	3547											
VPS13D	55187	genome.wustl.edu	37	chr1	12567015	12567015	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagaagccattttcctagaAgtcaaatacgatgacctcta	14	10	7	10	2	2	3	1	1	1	2	3	5	3	3	3	0	2	0	3	0	6	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:12567015A>T	ENST00000358136.3	+	69	13033	c.12903A>T	c.(12901-12903)gaA>gaT	p.E4301D	VPS13D_ENST00000543766.1_Missense_Mutation_p.E299D|VPS13D_ENST00000543710.1_Missense_Mutation_p.E105D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4276D	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCTAGAAGTCAAATACG	0.493																																																	0													130	122	125					1																	12567015		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.12903A>T	1.37:g.12567015A>T	ENSP00000350854:p.Glu4301Asp			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E4301D	ENST00000358136.3	37	c.12903	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.869683|2.869683	0.51588|0.51588	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000543766;ENST00000543710|ENST00000011700	T;T;T|.	0.78126|.	0.55;0.55;-1.15|.	5.88|5.88	-1.61|-1.61	0.08399|0.08399	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.45836|0.45836	0.1362|0.1362	N|N	0.20574|0.20574	0.59|0.59	0.52099|0.52099	D|D	0.999948|0.999948	B;B;B|.	0.33103|.	0.236;0.335;0.397|.	B;B;B|.	0.34824|.	0.07;0.19;0.093|.	T|T	0.25012|0.25012	-1.0144|-1.0144	10|5	0.07175|.	T|.	0.84|.	.|.	14.3361|14.3361	0.66592|0.66592	0.4094:0.0:0.5906:0.0|0.4094:0.0:0.5906:0.0	.|.	299;4276;4300|.	F5GX56;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	D|M	4276;4301;299;105|3123	ENSP00000348666:E4276D;ENSP00000350854:E4301D;ENSP00000441122:E299D|.	ENSP00000348666:E4276D|.	E|K	+|+	3|2	2|0	VPS13D|VPS13D	12489602|12489602	0.996000|0.996000	0.38824|0.38824	0.979000|0.979000	0.43373|0.43373	0.998000|0.998000	0.95712|0.95712	0.500000|0.500000	0.22562|0.22562	-0.279000|-0.279000	0.09167|0.09167	0.533000|0.533000	0.62120|0.62120	GAA|AAG	VPS13D	-	NULL	ENSG00000048707		0.493	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	60	0	A	NM_015378		12567015	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.996	T	T	12567015	A	T	12567015	3	4	13	1	0	0	0	0	1	0	0	0	17241	69	3	5	13173	5	VPS13D	1	12567015	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7794586	12567015	236683606	2	3548											
PRAMEF1	65121	genome.wustl.edu	37	chr1	12855998	12855998	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattccttggttcgtgtcaaTtgggagatcttcaccccact	8	14	8	11	1	3	1	2	0	1	1	5	2	4	1	3	2	0	1	3	2	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:12855998T>A	ENST00000332296.7	+	4	1381	c.1278T>A	c.(1276-1278)aaT>aaA	p.N426K	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N181K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	426					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTGTCAATTGGGAGATCT	0.572																																																	0													109	109	109					1																	12855998		2202	4293	6495	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1278T>A	1.37:g.12855998T>A	ENSP00000332134:p.Asn426Lys		Q9UQP2	Missense_Mutation	SNP	NULL	p.N426K	ENST00000332296.7	37	c.1278	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	4.358	0.065967	0.08388	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.44083	0.93;0.93	1.56	-3.12	0.05282	.	1.488980	0.04000	N	0.296263	T	0.24005	0.0581	N	0.25647	0.755	0.09310	N	1	B	0.16396	0.017	B	0.20384	0.029	T	0.09729	-1.0661	10	0.10902	T	0.67	.	2.6124	0.04895	0.4804:0.3347:0.0:0.1849	.	426	O95521	PRAM1_HUMAN	K	426;181	ENSP00000332134:N426K;ENSP00000383616:N181K	ENSP00000332134:N426K	N	+	3	2	PRAMEF1	12778585	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.352000	0.00501	-0.761000	0.04670	0.172000	0.16884	AAT	PRAMEF1	-	NULL	ENSG00000116721		0.572	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1	-	0	453	0	T	NM_023013		12855998	1	tier1	-	no_errors	ENST00000332296	ensembl	human	known	74_37	missense	9.68	308	33	SNP	0.000	A	A	12855998	T	A	12855998	3	1	13	1	0	0	0	0	1	0	0	0	12467	1490	52	5	1288	5	PRAMEF1	1	12855998	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	288983	12855998	236394623	3	3549											
PRAMEF6	440561	genome.wustl.edu	37	chr1	13001286	13001286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacagtcctgcactggtgTtttgttcctcttggcattga	5	16	11	9	0	1	1	0	1	1	0	3	2	3	2	2	3	1	4	2	3	0	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:13001286T>G	ENST00000376189.1	-	3	496	c.397A>C	c.(397-399)Aca>Cca	p.T133P	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.T133P	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	133					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCACTGGTGTTTTGTTCCTC	0.498																																																	0													410	685	587					1																	13001286		1510	2708	4218	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.397A>C	1.37:g.13001286T>G	ENSP00000365360:p.Thr133Pro		A0AUJ9	Missense_Mutation	SNP	NULL	p.T133P	ENST00000376189.1	37	c.397	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	1.653	-0.513582	0.04200	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.05081	3.5;3.5;3.5	1.37	-2.73	0.05950	.	3.413660	0.01687	N	0.026476	T	0.01870	0.0059	N	0.00462	-1.47	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.41431	-0.9509	10	0.35671	T	0.21	.	4.3043	0.10938	0.0:0.4378:0.3463:0.2159	.	133	Q5VXH4	PRAM6_HUMAN	P	133	ENSP00000365360:T133P;ENSP00000401281:T133P;ENSP00000347211:T133P	ENSP00000347211:T133P	T	-	1	0	PRAMEF6	12923873	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	-1.473000	0.01881	-0.911000	0.02809	ACA	PRAMEF6	-	NULL	ENSG00000232423		0.498	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0	749	0	T	NM_001010889		13001286	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	9.77	387	42	SNP	0.000	G	G	13001286	T	G	13001286	3	3	13	1	0	0	0	0	1	0	0	0	12480	1725	60	4	1041	4	PRAMEF6	1	13001286	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	145288	13001286	236249335	4	3550											
PRAMEF6	440561	genome.wustl.edu	37	chr1	13001306	13001306	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcctcttggcattgAggaagcacccacgggccata	8	12	10	11	1	1	1	0	1	1	0	2	2	2	2	3	3	1	3	3	3	2	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:13001306A>C	ENST00000376189.1	-	3	476	c.377T>G	c.(376-378)cTc>cGc	p.L126R	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.L126R	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	126					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGCATTGAGGAAGCACCC	0.498																																																	0													329	520	451					1																	13001306		1510	2707	4217	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.377T>G	1.37:g.13001306A>C	ENSP00000365360:p.Leu126Arg		A0AUJ9	Missense_Mutation	SNP	NULL	p.L126R	ENST00000376189.1	37	c.377	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	1.510	-0.549617	0.03996	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04758	3.56;3.56;3.56	1.52	-0.853	0.10709	.	8.556770	0.00597	N	0.000366	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.31245	0.126	T	0.39121	-0.9629	10	0.35671	T	0.21	.	4.3259	0.11039	0.4152:0.0:0.5848:0.0	.	126	Q5VXH4	PRAM6_HUMAN	R	126	ENSP00000365360:L126R;ENSP00000401281:L126R;ENSP00000347211:L126R	ENSP00000347211:L126R	L	-	2	0	PRAMEF6	12923893	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.643000	0.05421	-0.178000	0.10672	-0.636000	0.03981	CTC	PRAMEF6	-	NULL	ENSG00000232423		0.498	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0	600	0	A	NM_001010889		13001306	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	12.29	313	44	SNP	0.000	C	C	13001306	A	C	13001306	3	2	13	1	0	0	0	0	1	0	0	0	12480	304	11	4	1061	4	PRAMEF6	1	13001306	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	20	13001306	236249315	5	3551											
TAS1R2	80834	genome.wustl.edu	37	chr1	19181144	19181144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtcgggcgagaacaCgaccacgacgcgcgctgtgc	8	4	16	13	7	1	1	1	0	0	1	2	4	1	1	1	3	2	1	1	3	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:19181144C>T	ENST00000375371.3	-	3	841	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	274					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.V274M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCGAGAACACGACCACGACG	0.627																																																	1	Substitution - Missense(1)	lung(1)											70	61	64					1																	19181144		2203	4300	6503	SO:0001583	missense	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.820G>A	1.37:g.19181144C>T	ENSP00000364520:p.Val274Met		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.V274M	ENST00000375371.3	37	c.820	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830089	0.50845	.	.	ENSG00000179002	ENST00000375371	D	0.83755	-1.76	4.99	-3.83	0.04269	Extracellular ligand-binding receptor (1);	0.856575	0.09782	N	0.756542	D	0.86957	0.6058	M	0.81682	2.555	0.19300	N	0.999979	D	0.69078	0.997	P	0.58130	0.833	T	0.80336	-0.1425	10	0.87932	D	0	.	8.5563	0.33483	0.0:0.3452:0.4546:0.2002	.	274	Q8TE23	TS1R2_HUMAN	M	274	ENSP00000364520:V274M	ENSP00000364520:V274M	V	-	1	0	TAS1R2	19053731	0.117000	0.22190	0.000000	0.03702	0.349000	0.29174	0.675000	0.25232	-0.997000	0.03450	0.561000	0.74099	GTG	TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.627	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1		0	33	0	C			19181144	-1			no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	15.00	17	3	SNP	0.087	T	T	19181144	C	T	19181144	3	4	13	1	0	0	0	0	1	0	0	0	15610	536	19	1	1715	1	TAS1R2	1	19181144	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	6179838	19181144	230069477	6	3552											
RHD	6007	genome.wustl.edu	37	chr1	25628086	25628086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaatcgaaaggaagaatgCcgtgttcaacacctactatg	14	9	8	10	2	1	1	1	0	0	1	3	3	2	2	3	1	3	1	3	1	7	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:25628086C>T	ENST00000328664.4	+	5	865	c.710C>T	c.(709-711)gCc>gTc	p.A237V	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.A237V|RHD_ENST00000342055.5_Missense_Mutation_p.A237V|RHD_ENST00000357542.4_Missense_Mutation_p.A237V|RHD_ENST00000568195.1_Missense_Mutation_p.A237V|RHD_ENST00000423810.2_Missense_Mutation_p.A237V|RHD_ENST00000417538.2_Missense_Mutation_p.A237V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	237						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAATGCCGTGTTCAAC	0.557																																																	0													197	154	169					1																	25628086		2122	3774	5896	SO:0001583	missense	0			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.710C>T	1.37:g.25628086C>T	ENSP00000331871:p.Ala237Val		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.A237V	ENST00000328664.4	37	c.710	CCDS262.1	1	.	.	.	.	.	.	.	.	.	.	.	15.89	2.965168	0.53507	.	.	ENSG00000187010	ENST00000328664;ENST00000419831;ENST00000454452;ENST00000342055;ENST00000357542;ENST00000417538;ENST00000423810	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	3.8	1.83	0.25207	Ammonium transporter AmtB-like (3);	0.113575	0.64402	D	0.000015	T	0.45597	0.1350	M	0.80746	2.51	0.43879	D	0.996498	P;P;D;P;P;P;D;P	0.76494	0.857;0.857;0.999;0.722;0.678;0.896;0.998;0.927	P;P;D;P;P;B;D;P	0.79108	0.811;0.789;0.992;0.714;0.57;0.446;0.923;0.665	T	0.30937	-0.9961	10	0.87932	D	0	-6.7567	5.0704	0.14604	0.0:0.661:0.2148:0.1242	.	237;237;237;237;237;237;237;237	B4DLT8;Q5XLT1;Q5XLS9;Q5XLT2;Q5XLT3;E7EVW1;Q5XLT0;Q02161	.;.;.;.;.;.;.;RHD_HUMAN	V	237	ENSP00000331871:A237V;ENSP00000413849:A237V;ENSP00000339577:A237V;ENSP00000350150:A237V;ENSP00000396420:A237V;ENSP00000399640:A237V	ENSP00000331871:A237V	A	+	2	0	RHD	25500673	0.894000	0.30519	0.038000	0.18304	0.071000	0.16799	2.131000	0.42074	0.104000	0.17725	0.184000	0.17185	GCC	RHD	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000187010		0.557	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5		0	95	0	C	NM_016124		25628086	1			no_errors	ENST00000328664	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.472	T	T	25628086	C	T	25628086	3	4	13	1	0	0	0	0	1	0	0	0	13372	739	26	3	728	3	RHD	1	25628086	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	6446942	25628086	223622535	7	3553											
CCDC21	64793	genome.wustl.edu	37	chr1	26603650	26603650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacccagagactcagctaGatttgcagaagccagatgtg	13	7	11	10	0	1	4	1	0	0	4	1	5	1	4	2	0	4	3	2	0	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:26603650G>T	ENST00000252992.4	+	14	2286	c.2155G>T	c.(2155-2157)Gat>Tat	p.D719Y	SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank|CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Missense_Mutation_p.D668Y	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	719						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.D719H(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GACTCAGCTAGATTTGCAGAA	0.468																																																	1	Substitution - Missense(1)	cervix(1)											195	187	190					1																	26603650		2203	4300	6503	SO:0001583	missense	0			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"coiled-coil domain containing 21"	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.2155G>T	1.37:g.26603650G>T	ENSP00000252992:p.Asp719Tyr		B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Missense_Mutation	SNP	NULL	p.D719Y	ENST00000252992.4	37	c.2155	CCDS277.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358085|4.358085	0.82243|0.82243	.|.	.|.	ENSG00000130695|ENSG00000130695	ENST00000451429;ENST00000252992|ENST00000453146	T;T|.	0.11495|.	2.77;2.77|.	5.92|5.92	5.0|5.0	0.66597|0.66597	.|.	0.092980|.	0.64402|.	D|.	0.000001|.	T|.	0.69548|.	0.3123|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;0.999;1.0|.	D;D;D|.	0.78314|.	0.952;0.953;0.991|.	T|.	0.68538|.	-0.5382|.	10|.	0.51188|.	T|.	0.08|.	-15.0699|-15.0699	14.7955|14.7955	0.69873|0.69873	0.0:0.0:0.8556:0.1444|0.0:0.0:0.8556:0.1444	.|.	668;719;718|.	F8W7K4;Q6P2H3;Q6P2H3-2|.	.;CEP85_HUMAN;.|.	Y|Y	668;719|391	ENSP00000417002:D668Y;ENSP00000252992:D719Y|.	ENSP00000252992:D719Y|.	D|X	+|+	1|3	0|2	CEP85|CEP85	26476237|26476237	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.941000|0.941000	0.58515|0.58515	9.022000|9.022000	0.93678|0.93678	1.497000|1.497000	0.48584|0.48584	0.561000|0.561000	0.74099|0.74099	GAT|TAG	CEP85	-	NULL	ENSG00000130695		0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2		0	50	0	G	NM_022778		26603650	1			no_errors	ENST00000252992	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.999	T	T	26603650	G	T	26603650	3	4	13	1	0	0	0	0	1	0	0	0	2803	942	33	3	2205	3	CCDC21	1	26603650	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	975564	26603650	222646971	8	3554											
PHACTR4	65979	genome.wustl.edu	37	chr1	28802646	28802646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaagaagaagaggagcaAacctgtccatccacattcag	16	6	10	9	0	1	4	1	1	0	3	3	6	3	5	3	1	2	1	3	1	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:28802646A>C	ENST00000373839.3	+	8	1710	c.1449A>C	c.(1447-1449)caA>caC	p.Q483H	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.Q493H	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	483					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGAGCAAACCTGTCCAT	0.393																																																	0													92	86	88					1																	28802646		1968	4149	6117	SO:0001583	missense	0			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1449A>C	1.37:g.28802646A>C	ENSP00000362945:p.Gln483His		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.Q493H	ENST00000373839.3	37	c.1479	CCDS41293.1	1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.013744	0.35511	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23950	1.89;1.88	5.32	-10.6	0.00265	.	5.113450	0.00357	N	0.000020	T	0.37461	0.1004	L	0.36672	1.1	0.09310	N	1	D;D	0.71674	0.998;0.98	D;P	0.66351	0.943;0.674	T	0.66244	-0.5972	10	0.62326	D	0.03	-5.7631	15.3851	0.74691	0.1823:0.1662:0.6514:0.0	.	493;483	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	H	483;493;482	ENSP00000362945:Q483H;ENSP00000362942:Q493H	ENSP00000362942:Q493H	Q	+	3	2	PHACTR4	28675233	0.000000	0.05858	0.000000	0.03702	0.393000	0.30537	-1.770000	0.01791	-3.236000	0.00208	-0.408000	0.06270	CAA	PHACTR4	-	NULL	ENSG00000204138		0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	-	0	54	0	A	NM_023923		28802646	1	tier1	-	no_errors	ENST00000373836	ensembl	human	known	74_37	missense	12.94	74	11	SNP	0.000	C	C	28802646	A	C	28802646	3	2	13	1	0	0	0	0	1	0	0	0	11851	11	1	4	1525	4	PHACTR4	1	28802646	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2198996	28802646	220447975	9	3555											
CSMD2	114784	genome.wustl.edu	37	chr1	34011676	34011676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccacgagccattggCttgacaggtgcgctctgacg	6	8	13	14	4	1	2	0	2	1	0	2	3	2	2	3	2	2	3	3	2	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:34011676C>G	ENST00000373381.4	-	57	9237	c.9061G>C	c.(9061-9063)Gcc>Ccc	p.A3021P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2996	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCCATTGGCTTGACAGGTG	0.612																																																	0													68	66	66					1																	34011676		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9061G>C	1.37:g.34011676C>G	ENSP00000362479:p.Ala3021Pro		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A3021P	ENST00000373381.4	37	c.9061		1	.	.	.	.	.	.	.	.	.	.	C	4.668	0.124275	0.08931	.	.	ENSG00000121904	ENST00000373381	T	0.65178	-0.14	4.97	4.05	0.47172	Complement control module (2);Sushi/SCR/CCP (3);	0.192322	0.44483	D	0.000441	T	0.45418	0.1341	L	0.31065	0.9	0.54753	D	0.999981	B;B	0.06786	0.0;0.001	B;B	0.15484	0.013;0.013	T	0.29243	-1.0018	10	0.20519	T	0.43	.	8.4286	0.32744	0.0:0.6227:0.2974:0.0799	.	2877;3021	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	3021	ENSP00000362479:A3021P	ENSP00000241312:A2877P	A	-	1	0	CSMD2	33784263	0.242000	0.23868	0.076000	0.20297	0.022000	0.10575	0.854000	0.27791	1.312000	0.45043	0.650000	0.86243	GCC	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.612	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	45	0	C	NM_052896		34011676	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.700	G	G	34011676	C	G	34011676	3	3	13	1	0	0	0	0	1	0	0	0	3954	797	28	5	1890	5	CSMD2	1	34011676	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	5209030	34011676	215238945	10	3556											
C1orf94	84970	genome.wustl.edu	37	chr1	34663141	34663141	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcacagacattctgtgTgccgccgaggtcaagagcag	10	8	12	11	2	3	2	2	0	1	2	3	3	3	2	2	1	2	1	2	1	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:34663141T>A	ENST00000488417.1	+	2	756	c.636T>A	c.(634-636)tgT>tgA	p.C212*	C1orf94_ENST00000373374.3_Nonsense_Mutation_p.C22*	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	212										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACATTCTGTGTGCCGCCGAGG	0.557																																																	0													81	72	75					1																	34663141		2203	4300	6503	SO:0001587	stop_gained	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.636T>A	1.37:g.34663141T>A	ENSP00000435634:p.Cys212*		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Nonsense_Mutation	SNP	NULL	p.C212*	ENST00000488417.1	37	c.636	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663635	0.47572	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	.	.	.	4.98	-3.97	0.04094	.	0.350325	0.24937	N	0.034405	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-13.6131	7.3414	0.26640	0.0:0.5144:0.1401:0.3455	.	.	.	.	X	22;212	.	ENSP00000362472:C22X	C	+	3	2	C1orf94	34435728	0.000000	0.05858	0.193000	0.23327	0.024000	0.10985	-1.030000	0.03581	-0.647000	0.05444	0.460000	0.39030	TGT	C1orf94	-	NULL	ENSG00000142698		0.557	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0	29	0	T	NM_032884		34663141	1	tier1	-	no_errors	ENST00000488417	ensembl	human	known	74_37	nonsense	23.81	16	5	SNP	0.002	A	A	34663141	T	A	34663141	4	1	13	1	0	0	0	0	0	1	0	0	2078	1702	59	5	642	5	C1orf94	1	34663141	Nonsense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	651465	34663141	214587480	11	3557											
CLSPN	63967	genome.wustl.edu	37	chr1	36230905	36230905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgtgaaatgacgtttGggtcattgatttctaggtga	8	16	11	6	1	3	4	1	4	2	0	3	4	3	4	1	2	0	1	1	2	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:36230905G>T	ENST00000318121.3	-	2	104	c.47C>A	c.(46-48)cCa>cAa	p.P16Q	CLSPN_ENST00000520551.1_Missense_Mutation_p.P16Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.P16Q|CLSPN_ENST00000251195.5_Missense_Mutation_p.P16Q	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	16					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATGACGTTTGGGTCATTGAT	0.408																																																	0													134	123	127					1																	36230905		2203	4300	6503	SO:0001583	missense	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.47C>A	1.37:g.36230905G>T	ENSP00000312995:p.Pro16Gln		A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	NULL	p.P16Q	ENST00000318121.3	37	c.47	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	G	7.181	0.589567	0.13812	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.20598	2.06;2.07;2.06;2.06	5.92	1.6	0.23607	.	1.001520	0.08050	N	0.996495	T	0.16300	0.0392	N	0.24115	0.695	0.09310	N	1	P;P	0.44946	0.773;0.846	B;P	0.44990	0.246;0.466	T	0.18053	-1.0349	10	0.42905	T	0.14	2.6052	4.8609	0.13583	0.2942:0.1515:0.5543:0.0	.	16;16	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	16	ENSP00000251195:P16Q;ENSP00000312995:P16Q;ENSP00000362317:P16Q;ENSP00000428848:P16Q	ENSP00000251195:P16Q	P	-	2	0	CLSPN	36003492	0.976000	0.34144	0.021000	0.16686	0.057000	0.15508	0.754000	0.26390	0.021000	0.15133	0.655000	0.94253	CCA	CLSPN	-	NULL	ENSG00000092853		0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1		0	82	0	G	NM_022111		36230905	-1			no_errors	ENST00000318121	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.441	T	T	36230905	G	T	36230905	3	4	13	1	0	0	0	0	1	0	0	0	3567	1348	47	3	4068	3	CLSPN	1	36230905	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1567764	36230905	213019716	12	3558											
FAF1	11124	genome.wustl.edu	37	chr1	51001111	51001111	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtctcatcattaacTcatctactgttgtgttccct	8	16	5	12	0	4	1	3	1	2	0	6	1	5	1	2	0	2	2	2	0	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:51001111T>A	ENST00000396153.2	-	15	1875	c.1424A>T	c.(1423-1425)gAg>gTg	p.E475V	FAF1_ENST00000371778.4_Missense_Mutation_p.E475V|FAF1_ENST00000545823.1_Missense_Mutation_p.E233V	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	475					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATCATTAACTCATCTACTGT	0.323																																																	1	Whole gene deletion(1)	thyroid(1)											147	140	142					1																	51001111		2203	4300	6503	SO:0001583	missense	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.1424A>T	1.37:g.51001111T>A	ENSP00000379457:p.Glu475Val		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Missense_Mutation	SNP	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.E475V	ENST00000396153.2	37	c.1424	CCDS554.1	1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660903	0.88154	.	.	ENSG00000185104	ENST00000396153;ENST00000371778;ENST00000545823;ENST00000371780;ENST00000543607	T;T;T	0.51574	0.7;0.7;0.7	5.52	5.52	0.82312	UAS (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.73962	2.25	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.70227	0.925;0.968	T	0.69049	-0.5248	10	0.44086	T	0.13	-21.2738	15.6364	0.76958	0.0:0.0:0.0:1.0	.	233;475	B4DEJ6;Q9UNN5	.;FAF1_HUMAN	V	475;475;233;315;323	ENSP00000379457:E475V;ENSP00000360843:E475V;ENSP00000438870:E233V	ENSP00000360843:E475V	E	-	2	0	FAF1	50773699	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.671000	0.83941	2.089000	0.63090	0.482000	0.46254	GAG	FAF1	-	smart_UAS	ENSG00000185104		0.323	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1	-	0	110	0	T	NM_007051		51001111	-1	tier1	-	no_errors	ENST00000371778	ensembl	human	known	74_37	missense	35.94	41	23	SNP	1.000	A	A	51001111	T	A	51001111	3	1	13	1	0	0	0	0	1	0	0	0	5388	1551	54	5	548	5	FAF1	1	51001111	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	14770206	51001111	198249510	13	3559											
SGIP1	84251	genome.wustl.edu	37	chr1	67185003	67185003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggggacccagccccctaAccatgggagctcaggacact	10	4	11	16	0	1	0	1	0	0	0	1	3	1	3	5	4	3	1	5	4	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:67185003A>G	ENST00000371037.4	+	19	1734	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	SGIP1_ENST00000371036.3_Missense_Mutation_p.T355A|SGIP1_ENST00000435165.2_Missense_Mutation_p.T58A|SGIP1_ENST00000371035.3_Missense_Mutation_p.T343A|SGIP1_ENST00000237247.6_Missense_Mutation_p.T584A|SGIP1_ENST00000371039.1_Missense_Mutation_p.T356A	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	553					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGCCCCCTAACCATGGGAGC	0.418																																																	0													62	58	59					1																	67185003		2203	4300	6503	SO:0001583	missense	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1657A>G	1.37:g.67185003A>G	ENSP00000360076:p.Thr553Ala		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.T584A	ENST00000371037.4	37	c.1750	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035666	0.75617	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.47869	2.37;2.37;2.38;2.37;2.3;0.83	5.4	4.27	0.50696	.	0.152745	0.64402	N	0.000020	T	0.42653	0.1212	M	0.71581	2.175	0.58432	D	0.999994	P;B;P;P;B	0.50443	0.935;0.307;0.905;0.9;0.033	P;B;B;B;B	0.52793	0.709;0.079;0.3;0.275;0.039	T	0.35699	-0.9778	10	0.24483	T	0.36	-12.824	11.1581	0.48499	0.9275:0.0:0.0725:0.0	.	583;58;155;343;553	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	A	584;356;343;583;556;355;553;58	ENSP00000237247:T584A;ENSP00000360078:T356A;ENSP00000360074:T343A;ENSP00000360075:T355A;ENSP00000360076:T553A;ENSP00000395525:T58A	ENSP00000237247:T584A	T	+	1	0	SGIP1	66957591	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	8.905000	0.92613	0.888000	0.36160	-0.263000	0.10527	ACC	SGIP1	-	pfam_Muniscin_C-term_mu_dom	ENSG00000118473		0.418	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	-	0	56	0	A	NM_032291		67185003	1	tier1	-	no_errors	ENST00000237247	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	G	G	67185003	A	G	67185003	3	3	13	1	0	0	0	0	1	0	0	0	14251	43	2	4	1731	4	SGIP1	1	67185003	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	16183892	67185003	182065618	14	3560											
SLC35D1	23169	genome.wustl.edu	37	chr1	67519675	67519675	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctttaacccgagcatgctGacgtctatgaacttccgcca	9	11	7	14	3	1	2	0	2	1	0	3	3	3	2	4	0	4	2	4	0	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:67519675G>A	ENST00000235345.5	-	1	107	c.22C>T	c.(22-24)Cag>Tag	p.Q8*	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	8					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						CGAGCATGCTGACGTCTATGA	0.667																																																	0													35	40	39					1																	67519675		2203	4300	6503	SO:0001587	stop_gained	0			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.22C>T	1.37:g.67519675G>A	ENSP00000235345:p.Gln8*		A8K185|B7Z3X2|Q52LU5|Q92548	Nonsense_Mutation	SNP	pfam_Tpt_PEP_trans_dom	p.Q8*	ENST00000235345.5	37	c.22	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.805530	0.97853	.	.	ENSG00000116704	ENST00000235345	.	.	.	3.41	3.41	0.39046	.	0.125531	0.33327	N	0.005024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-1.0228	12.6981	0.57016	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000235345:Q8X	Q	-	1	0	SLC35D1	67292263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.822000	0.75277	1.900000	0.55004	0.462000	0.41574	CAG	SLC35D1	-	NULL	ENSG00000116704		0.667	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	-	0	84	0	G	NM_015139		67519675	-1	tier1	-	no_errors	ENST00000235345	ensembl	human	known	74_37	nonsense	14.06	55	9	SNP	1.000	A	A	67519675	G	A	67519675	4	1	13	1	0	0	0	0	0	1	0	0	14626	1299	45	3	1093	3	SLC35D1	1	67519675	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	334672	67519675	181730946	15	3561											
FPGT	8790	genome.wustl.edu	37	chr1	74671035	74671035	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagttggggaaaactgcaTtattagtggttcttacatcc	10	15	9	7	0	2	0	1	0	1	0	3	1	3	1	1	3	3	3	1	3	5	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:74671035T>G	ENST00000609362.1	+	4	1341	c.1304T>G	c.(1303-1305)aTt>aGt	p.I435S	FPGT_ENST00000370894.5_Missense_Mutation_p.L163V|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.I181S|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.I448S|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	435					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GAAAACTGCATTATTAGTGGT	0.413																																																	0													129	135	133					1																	74671035		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1304T>G	1.37:g.74671035T>G	ENSP00000476680:p.Ile435Ser		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.I448S	ENST00000609362.1	37	c.1343	CCDS663.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.94|15.94	2.980199|2.980199	0.53827|0.53827	.|.	.|.	ENSG00000254685|ENSG00000254685	ENST00000370898;ENST00000534056|ENST00000370894	T;T|.	0.45276|.	0.9;0.9|.	5.72|5.72	5.72|5.72	0.89469|0.89469	L-fucokinase (1);|.	.|.	.|.	.|.	.|.	T|T	0.73001|0.73001	0.3531|0.3531	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.997;0.983;0.999|.	D;P;D|.	0.76575|.	0.959;0.9;0.988|.	T|T	0.78150|0.78150	-0.2316|-0.2316	9|6	0.87932|0.87932	D|D	0|0	.|.	16.0204|16.0204	0.80478|0.80478	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	181;60;435|.	E9PNQ2;B4E2Y7;O14772|.	.;.;FPGT_HUMAN|.	S|V	435;181|163	ENSP00000359935:I435S;ENSP00000432819:I181S|.	ENSP00000359935:I435S|ENSP00000359931:L163V	I|L	+|+	2|1	0|2	TNNI3K|TNNI3K	74443623|74443623	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.402000|0.402000	0.30811|0.30811	7.698000|7.698000	0.84413|0.84413	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	ATT|TTA	FPGT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.413	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		-	0	105	0	T			74671035	1	tier1	-	no_errors	ENST00000370898	ensembl	human	known	74_37	missense	8.54	75	7	SNP	1.000	G	G	74671035	T	G	74671035	3	3	13	1	0	0	0	0	1	0	0	0	6061	1493	52	4	1318	4	FPGT	1	74671035	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	7151360	74671035	174579586	16	3562											
MSH4	4438	genome.wustl.edu	37	chr1	76288110	76288110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggaataatcacactctcTttggtgttctaaattatact	14	15	5	7	0	3	0	1	0	2	0	4	1	3	1	0	2	1	1	0	2	7	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:76288110T>C	ENST00000263187.3	+	7	1110	c.1006T>C	c.(1006-1008)Ttt>Ctt	p.F336L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	336					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCACACTCTCTTTGGTGTTCT	0.308								Mismatch excision repair (MMR)																																									0													88	90	89					1																	76288110		2203	4298	6501	SO:0001583	missense	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1006T>C	1.37:g.76288110T>C	ENSP00000263187:p.Phe336Leu		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.F336L	ENST00000263187.3	37	c.1006	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.191003	0.58017	.	.	ENSG00000057468	ENST00000263187	D	0.88818	-2.43	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.111909	0.64402	N	0.000006	T	0.71676	0.3368	L	0.41632	1.29	0.49130	D	0.999753	B	0.17465	0.022	B	0.24974	0.057	T	0.65278	-0.6207	10	0.02654	T	1	-21.1129	12.049	0.53495	0.0:0.0687:0.0:0.9313	.	336	O15457	MSH4_HUMAN	L	336	ENSP00000263187:F336L	ENSP00000263187:F336L	F	+	1	0	MSH4	76060698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.838000	0.62803	2.230000	0.72887	0.528000	0.53228	TTT	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1		0	85	0	T	NM_002440		76288110	1			no_errors	ENST00000263187	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	C	C	76288110	T	C	76288110	3	2	13	1	0	0	0	0	1	0	0	0	9910	1609	56	4	1032	4	MSH4	1	76288110	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1617075	76288110	172962511	17	3563											
CTBS	1486	genome.wustl.edu	37	chr1	85036366	85036366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctgtgaccaatcataaGatttccaagttttctgtcca	12	15	5	9	0	3	2	1	1	2	1	5	2	5	2	3	0	0	1	3	0	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:85036366G>T	ENST00000370630.5	-	2	263	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	72					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)	p.S72F(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCAATCATAAGATTTCCAAGT	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											92	93	93					1																	85036366		2203	4300	6503	SO:0001583	missense	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.215C>A	1.37:g.85036366G>T	ENSP00000359664:p.Ser72Tyr		Q5VX50	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.S72Y	ENST00000370630.5	37	c.215	CCDS698.1	1	.	.	.	.	.	.	.	.	.	.	G	2.573	-0.299296	0.05532	.	.	ENSG00000117151	ENST00000370630	T	0.29655	1.56	5.73	-1.58	0.08479	Chitinase II (1);Glycoside hydrolase, superfamily (1);	0.424586	0.30584	N	0.009303	T	0.02610	0.0079	N	0.05383	-0.06	0.34568	D	0.713166	B	0.02656	0.0	B	0.04013	0.001	T	0.40213	-0.9575	10	0.02654	T	1	-7.0456	4.7242	0.12933	0.2738:0.0:0.2581:0.4681	.	72	Q01459	DIAC_HUMAN	Y	72	ENSP00000359664:S72Y	ENSP00000359664:S72Y	S	-	2	0	CTBS	84808954	0.910000	0.30920	0.982000	0.44146	0.993000	0.82548	0.014000	0.13333	-0.323000	0.08602	0.561000	0.74099	TCT	CTBS	-	superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000117151		0.373	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2		0	80	0	G	NM_004388		85036366	-1			no_errors	ENST00000370630	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.927	T	T	85036366	G	T	85036366	3	4	13	1	0	0	0	0	1	0	0	0	4008	942	33	3	966	3	CTBS	1	85036366	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8748256	85036366	164214255	18	3564											
COL24A1	255631	genome.wustl.edu	37	chr1	86249802	86249802	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatgtaaacatactttaggGcctgggaatccttggaaacc	12	11	10	8	0	0	0	0	0	0	0	1	2	1	2	3	3	3	2	3	3	7	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:86249802G>T	ENST00000370571.2	-	50	4581	c.4215C>A	c.(4213-4215)ggC>ggA	p.G1405G	COL24A1_ENST00000436319.1_Silent_p.G1405G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1405	Collagen-like 16.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G1405G(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATACTTTAGGGCCTGGGAATC	0.353																																																	1	Substitution - coding silent(1)	endometrium(1)											76	73	74					1																	86249802		1825	4087	5912	SO:0001819	synonymous_variant	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.4215C>A	1.37:g.86249802G>T			C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G1405	ENST00000370571.2	37	c.4215	CCDS41353.1	1																																																																																			COL24A1	-	NULL	ENSG00000171502		0.353	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4		0	83	0	G	NM_152890		86249802	-1			no_errors	ENST00000370571	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.741	T	T	86249802	G	T	86249802	2	4	13	1	0	0	0	0	0	0	0	1	3690	1190	42	3		3	COL24A1	1	86249802	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1213436	86249802	163000819	19	3565											
COL24A1	255631	genome.wustl.edu	37	chr1	86362043	86362043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaatcaatgattaccttgGcaccttgtataccttgttcc	12	14	5	10	0	1	1	1	1	0	0	2	1	2	1	4	1	2	3	4	1	6	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:86362043G>T	ENST00000370571.2	-	29	3194	c.2828C>A	c.(2827-2829)gCc>gAc	p.A943D	COL24A1_ENST00000436319.1_Missense_Mutation_p.A943D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	943	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.A943D(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATTACCTTGGCACCTTGTAT	0.313																																																	1	Substitution - Missense(1)	lung(1)											114	108	110					1																	86362043		1832	4087	5919	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2828C>A	1.37:g.86362043G>T	ENSP00000359603:p.Ala943Asp		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.A943D	ENST00000370571.2	37	c.2828	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691708	0.48097	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93488	-1.78;-3.23	5.46	-0.273	0.12915	.	0.000000	0.38492	N	0.001677	T	0.78387	0.4275	N	0.16066	0.365	0.25809	N	0.984419	P;P	0.46395	0.729;0.877	B;P	0.53224	0.222;0.721	T	0.76798	-0.2826	10	0.12103	T	0.63	.	4.6302	0.12498	0.4301:0.2859:0.284:0.0	.	943;943	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	D	943	ENSP00000359603:A943D;ENSP00000392531:A943D	ENSP00000359603:A943D	A	-	2	0	COL24A1	86134631	0.535000	0.26370	0.996000	0.52242	0.996000	0.88848	-0.019000	0.12546	0.276000	0.22118	0.655000	0.94253	GCC	COL24A1	-	NULL	ENSG00000171502		0.313	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0	101	0	G	NM_152890		86362043	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.850	T	T	86362043	G	T	86362043	3	4	13	1	0	0	0	0	1	0	0	0	3690	1203	42	3	2444	3	COL24A1	1	86362043	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	112241	86362043	162888578	20	3566											
GBP7	388646	genome.wustl.edu	37	chr1	89597890	89597890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacataatgagctaagaattTtcattcctaaatcaactagc	16	13	4	8	0	2	2	2	1	0	1	3	2	3	2	1	0	4	1	1	0	8	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:89597890T>G	ENST00000294671.2	-	11	1997	c.1859A>C	c.(1858-1860)aAa>aCa	p.K620T		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	620						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GCTAAGAATTTTCATTCCTAA	0.368																																																	0													75	76	76					1																	89597890		2203	4300	6503	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1859A>C	1.37:g.89597890T>G	ENSP00000294671:p.Lys620Thr			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.K620T	ENST00000294671.2	37	c.1859	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	T	9.362	1.068318	0.20067	.	.	ENSG00000213512	ENST00000294671	T	0.64991	-0.13	4.02	-1.53	0.08611	.	0.493459	0.18683	N	0.134088	T	0.16811	0.0404	N	0.19112	0.55	0.09310	N	1	B	0.34200	0.441	B	0.32149	0.141	T	0.12967	-1.0527	10	0.52906	T	0.07	.	0.4248	0.00461	0.1799:0.2196:0.1855:0.415	.	620	Q8N8V2	GBP7_HUMAN	T	620	ENSP00000294671:K620T	ENSP00000294671:K620T	K	-	2	0	GBP7	89370478	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.210000	0.09345	-0.116000	0.11893	0.383000	0.25322	AAA	GBP7	-	NULL	ENSG00000213512		0.368	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1		0	85	0	T	NM_207398		89597890	-1			no_errors	ENST00000294671	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	G	G	89597890	T	G	89597890	3	3	13	1	0	0	0	0	1	0	0	0	6304	1841	64	4	61	4	GBP7	1	89597890	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3235847	89597890	159652731	21	3567											
HFM1	164045	genome.wustl.edu	37	chr1	91816414	91816414	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcatttaaatgttcaataAgatgtctgtgcaaactaatg	14	14	7	6	0	2	1	1	0	1	1	2	1	2	1	0	0	3	3	0	0	6	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:91816414A>C	ENST00000370425.3	-	18	2185	c.2087T>G	c.(2086-2088)cTt>cGt	p.L696R	HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Missense_Mutation_p.L375R|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	696	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATGTTCAATAAGATGTCTGTG	0.323																																																	0													115	107	110					1																	91816414		1836	4086	5922	SO:0001583	missense	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2087T>G	1.37:g.91816414A>C	ENSP00000359454:p.Leu696Arg		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L696R	ENST00000370425.3	37	c.2087	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103786	0.76983	.	.	ENSG00000162669	ENST00000370425;ENST00000370424;ENST00000370421	T;T	0.62639	0.01;0.01	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.000000	0.40554	U	0.001072	D	0.83871	0.5348	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.89625	0.3851	10	0.87932	D	0	.	15.5765	0.76392	1.0:0.0:0.0:0.0	.	375;696	A6NGI5;A2PYH4	.;HFM1_HUMAN	R	696;375;380	ENSP00000359454:L696R;ENSP00000359453:L375R	ENSP00000359450:L380R	L	-	2	0	HFM1	91589002	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.218000	0.95166	2.131000	0.65755	0.377000	0.23210	CTT	HFM1	-	pfscan_Helicase_C	ENSG00000162669		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0	29	0	A	NM_001017975		91816414	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	C	C	91816414	A	C	91816414	3	2	13	1	0	0	0	0	1	0	0	0	7110	72	3	4	2308	4	HFM1	1	91816414	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2218524	91816414	157434207	22	3568											
BRDT	676	genome.wustl.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-																															atgtttcccgactgagtgagAgcagcagcagcagcagcagc																								rs375773077		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																																	0																																										SO:0001651	inframe_deletion	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S643in_frame_del	ENST00000362005.3	37	c.1918_1920	CCDS735.1	1																																																																																			BRDT	-	NULL	ENSG00000137948		0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2		0	31	0	AGC	NM_207189		92447230	1	tier1		no_errors	ENST00000362005	ensembl	human	known	74_37	in_frame_del	10.71	25	3	DEL	0.989:0.998:1.000	-	-	92447230	AGC	-	92447228	7	5	13	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-IC-A6RE-01A-11D-A33E-09	630814	92447228	156803393	23	3569											
GLMN	11146	genome.wustl.edu	37	chr1	92730170	92730170	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaagcctccacacctgAgtgattacttgtattcaata	15	12	5	9	0	1	2	1	2	0	0	2	2	2	2	3	0	2	1	3	0	7	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:92730170A>T	ENST00000370360.3	-	14	1321	c.1240T>A	c.(1240-1242)Tca>Aca	p.S414T	GLMN_ENST00000534881.1_Missense_Mutation_p.S400T	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	414					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TCCACACCTGAGTGATTACTT	0.294									Multiple Glomus Tumors (of the Skin), Familial																																								0													73	74	74					1																	92730170		2202	4292	6494	SO:0001583	missense	0	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1240T>A	1.37:g.92730170A>T	ENSP00000359385:p.Ser414Thr		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	pfam_YAP-bd/Alf4/glomulin	p.S414T	ENST00000370360.3	37	c.1240	CCDS738.1	1	.	.	.	.	.	.	.	.	.	.	a	17.46	3.395928	0.62177	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.42900	0.96;0.96	5.62	4.43	0.53597	.	0.182328	0.47852	D	0.000210	T	0.30792	0.0776	L	0.47716	1.5	0.33947	D	0.643961	P;P	0.47484	0.896;0.896	P;P	0.48368	0.519;0.575	T	0.28776	-1.0033	10	0.66056	D	0.02	-14.982	10.9984	0.47591	0.7844:0.2156:0.0:0.0	.	400;414	B4DJ85;Q92990	.;GLMN_HUMAN	T	414;400	ENSP00000359385:S414T;ENSP00000440156:S400T	ENSP00000359385:S414T	S	-	1	0	GLMN	92502758	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.558000	0.45879	2.267000	0.75376	0.477000	0.44152	TCA	GLMN	-	pfam_YAP-bd/Alf4/glomulin	ENSG00000174842		0.294	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLMN	HGNC	protein_coding	OTTHUMT00000028358.1	-	0	39	0	A	NM_007070		92730170	-1	tier1	-	no_errors	ENST00000370360	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	T	T	92730170	A	T	92730170	3	4	13	1	0	0	0	0	1	0	0	0	6474	304	11	5	568	5	GLMN	1	92730170	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	282942	92730170	156520451	24	3570											
SLC44A3	126969	genome.wustl.edu	37	chr1	95286603	95286603	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcctgttctttctcttttgGactggtttggtaagtgtggg	3	20	12	6	0	2	0	0	0	2	0	4	1	3	1	1	4	0	3	1	4	1	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:95286603G>A	ENST00000271227.6	+	2	228	c.126G>A	c.(124-126)tgG>tgA	p.W42*	SLC44A3_ENST00000446120.2_Intron|SLC44A3_ENST00000532427.1_Intron|LINC01057_ENST00000452922.1_lincRNA|SLC44A3_ENST00000527077.1_Intron|SLC44A3_ENST00000529450.1_Nonsense_Mutation_p.W42*|SLC44A3_ENST00000467909.1_Intron	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	42					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTCTCTTTTGGACTGGTTTGG	0.483																																																	0													298	244	260					1																	95286603		692	1591	2283	SO:0001587	stop_gained	0			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"Solute carriers"	28689	protein-coding gene	gene with protein product			"solute carrier family, member 3"			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.126G>A	1.37:g.95286603G>A	ENSP00000271227:p.Trp42*		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Nonsense_Mutation	SNP	pfam_Choline_transptr-like	p.W42*	ENST00000271227.6	37	c.126	CCDS44176.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.809354	0.97853	.	.	ENSG00000143036	ENST00000271227;ENST00000529450	.	.	.	5.68	5.68	0.88126	.	0.482878	0.21551	N	0.072738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.6852	18.5686	0.91126	0.0:0.0:1.0:0.0	.	.	.	.	X	42	.	ENSP00000271227:W42X	W	+	3	0	SLC44A3	95059191	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.969000	0.63735	2.675000	0.91044	0.557000	0.71058	TGG	SLC44A3	-	NULL	ENSG00000143036		0.483	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	-	0	21	0	G	NM_152369		95286603	1	tier1	-	no_errors	ENST00000271227	ensembl	human	known	74_37	nonsense	36.36	14	8	SNP	1.000	A	A	95286603	G	A	95286603	4	1	13	1	0	0	0	0	0	1	0	0	14682	1183	41	3	132	3	SLC44A3	1	95286603	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2556433	95286603	153964018	25	3571											
LPPR4	9890	genome.wustl.edu	37	chr1	99771718	99771718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatccatagaaatgaggtcaAgctcagagccatcgagggta	14	7	12	8	1	2	3	2	1	0	2	4	5	3	3	2	2	2	2	2	2	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:99771718A>G	ENST00000370185.3	+	7	1941	c.1444A>G	c.(1444-1446)Agc>Ggc	p.S482G	LPPR4_ENST00000370184.1_Missense_Mutation_p.S324G|LPPR4_ENST00000457765.1_Missense_Mutation_p.S424G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		482					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATGAGGTCAAGCTCAGAGCC	0.517																																																	0													103	103	103					1																	99771718		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.1444A>G	1.37:g.99771718A>G	ENSP00000359204:p.Ser482Gly		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S482G	ENST00000370185.3	37	c.1444	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.022744	0.35701	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.25085	2.39;2.37;1.82	5.7	5.7	0.88788	.	0.278419	0.46442	D	0.000288	T	0.18257	0.0438	L	0.46157	1.445	0.58432	D	0.99999	P;B	0.47106	0.89;0.025	P;B	0.45232	0.474;0.01	T	0.01212	-1.1417	9	.	.	.	-36.0512	15.9626	0.79941	1.0:0.0:0.0:0.0	.	424;482	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	G	482;424;482;324	ENSP00000359204:S482G;ENSP00000394913:S424G;ENSP00000359203:S324G	.	S	+	1	0	RP4-788L13.1	99544306	1.000000	0.71417	0.937000	0.37676	0.868000	0.49771	6.930000	0.75858	2.166000	0.68216	0.528000	0.53228	AGC	LPPR4	-	NULL	ENSG00000117600		0.517	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0	36	0	A			99771718	1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	G	G	99771718	A	G	99771718	3	3	13	1	0	0	0	0	1	0	0	0	8962	72	3	4	1470	4	LPPR4	1	99771718	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4485115	99771718	149478903	26	3572											
CELSR2	1952	genome.wustl.edu	37	chr1	109813595	109813597	+	In_Frame_Del	DEL	CTG	CTG	-																															ggctacgggaaccctgacttCtgctggctctccatctatga																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:109813595_109813597delCTG	ENST00000271332.3	+	25	7591_7593	c.7530_7532delCTG	c.(7528-7533)ttctgc>ttc	p.C2511del	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2511					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCCTGACTTCTGCTGGCTCTCC	0.635																																					NSCLC(158;1285 2011 34800 34852 42084)												0																																										SO:0001651	inframe_deletion	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7530_7532delCTG	1.37:g.109813598_109813600delCTG	ENSP00000271332:p.Cys2511del		Q5T2Y7|Q92566	In_Frame_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C2511in_frame_del	ENST00000271332.3	37	c.7530_7532	CCDS796.1	1																																																																																			CELSR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000143126		0.635	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	70	0	CTG	NM_001408		109813597	1	tier1		no_errors	ENST00000271332	ensembl	human	known	74_37	in_frame_del	22.86	27	8	DEL	1.000:1.000:1.000	-	-	109813597	CTG	-	109813595	7	5	13	1	0	1	0	1	0	0	0	0	3229	912	32	0	7628	0	CELSR2	1	109813595	In_Frame_Del	DEL	CTG	TCGA-IC-A6RE-01A-11D-A33E-09	10041877	109813595	139437026	27	3573											
GNAI3	2773	genome.wustl.edu	37	chr1	110128893	110128893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagtggattcactgttttGagggagtgacagcaattatc	13	12	11	5	0	1	2	1	2	0	0	2	4	1	4	0	2	1	2	0	2	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:110128893G>A	ENST00000369851.4	+	6	756	c.646G>A	c.(646-648)Gag>Aag	p.E216K		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of adenylate cyclase activity (GO:0007194)|platelet activation (GO:0030168)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle fusion (GO:0006906)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|plasma membrane (GO:0005886)|zymogen granule (GO:0042588)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCACTGTTTTGAGGGAGTGAC	0.453																																																	0													292	235	255					1																	110128893		2203	4300	6503	SO:0001583	missense	0			M27543	CCDS802.1	1p13	2012-10-02			ENSG00000065135	ENSG00000065135			4387	protein-coding gene	gene with protein product		139370				3109953	Standard	NM_006496		Approved	87U6	uc001dxz.3	P08754	OTTHUMG00000011648	ENST00000369851.4:c.646G>A	1.37:g.110128893G>A	ENSP00000358867:p.Glu216Lys		P17539|Q5TZX1	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.E216K	ENST00000369851.4	37	c.646	CCDS802.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.278936	0.95489	.	.	ENSG00000065135	ENST00000369851	D	0.90004	-2.6	5.02	4.08	0.47627	.	0.046302	0.85682	D	0.000000	D	0.92057	0.7483	M	0.89785	3.06	0.80722	D	1	P	0.37824	0.609	P	0.49085	0.6	D	0.93262	0.6644	10	0.87932	D	0	.	15.0743	0.72066	0.0:0.143:0.857:0.0	.	216	P08754	GNAI3_HUMAN	K	216	ENSP00000358867:E216K	ENSP00000358867:E216K	E	+	1	0	GNAI3	109930416	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.190000	0.43042	0.585000	0.79938	GAG	GNAI3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000065135		0.453	GNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI3	HGNC	protein_coding	OTTHUMT00000032222.1	-	0	45	0	G	NM_006496		110128893	1	tier1	-	no_errors	ENST00000369851	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	A	A	110128893	G	A	110128893	3	1	13	1	0	0	0	0	1	0	0	0	6532	1291	45	3	668	3	GNAI3	1	110128893	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	315298	110128893	139121728	28	3574											
LRIG2	9860	genome.wustl.edu	37	chr1	113666539	113666539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacataaacagagaactagGcctgcctcatcctccttttt	12	11	6	12	0	1	1	1	0	0	1	3	3	3	1	4	1	4	0	4	1	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:113666539G>T	ENST00000361127.5	+	18	3212	c.3014G>T	c.(3013-3015)gGc>gTc	p.G1005V	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	1005					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAGAACTAGGCCTGCCTCAT	0.463																																																	0													82	69	74					1																	113666539		2203	4300	6503	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.3014G>T	1.37:g.113666539G>T	ENSP00000355396:p.Gly1005Val		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G1005V	ENST00000361127.5	37	c.3014	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679930	0.47886	.	.	ENSG00000198799	ENST00000361127	T	0.63096	-0.02	5.9	5.9	0.94986	.	0.288463	0.30085	N	0.010452	T	0.47619	0.1455	L	0.54323	1.7	0.44201	D	0.997023	P	0.35982	0.531	B	0.33799	0.17	T	0.52079	-0.8623	10	0.44086	T	0.13	.	16.7279	0.85428	0.0:0.1375:0.8625:0.0	.	1005	O94898	LRIG2_HUMAN	V	1005	ENSP00000355396:G1005V	ENSP00000355396:G1005V	G	+	2	0	LRIG2	113468062	0.998000	0.40836	0.688000	0.30117	0.996000	0.88848	4.743000	0.62110	2.798000	0.96311	0.650000	0.86243	GGC	LRIG2	-	NULL	ENSG00000198799		0.463	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	-	0	47	0	G	NM_014813		113666539	1	tier1	-	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.577	T	T	113666539	G	T	113666539	3	4	13	1	0	0	0	0	1	0	0	0	8980	1203	42	3	3084	3	LRIG2	1	113666539	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3537646	113666539	135584082	29	3575											
RSBN1	54665	genome.wustl.edu	37	chr1	114308744	114308744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgggaaagatgatgaaGcagttgttaacagctgaatc	14	9	13	5	0	0	4	0	3	0	1	1	5	0	5	0	2	3	4	0	2	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:114308744G>T	ENST00000261441.5	-	7	2330	c.2267C>A	c.(2266-2268)gCt>gAt	p.A756D	RSBN1_ENST00000369581.2_5'Flank	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	756						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATGATGAAGCAGTTGTTAA	0.408																																																	0													212	197	202					1																	114308744		2203	4300	6503	SO:0001583	missense	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2267C>A	1.37:g.114308744G>T	ENSP00000261441:p.Ala756Asp		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Missense_Mutation	SNP	NULL	p.A756D	ENST00000261441.5	37	c.2267	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363960	0.41902	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.71	5.71	0.89125	.	0.409391	0.25744	N	0.028587	T	0.42154	0.1190	L	0.40543	1.245	0.36830	D	0.886857	B	0.13594	0.008	B	0.12156	0.007	T	0.39440	-0.9614	9	0.49607	T	0.09	-3.3682	15.3706	0.74560	0.0:0.0:0.86:0.14	.	756	Q5VWQ0	RSBN1_HUMAN	D	756	.	ENSP00000261441:A756D	A	-	2	0	RSBN1	114110267	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.566000	0.60843	2.695000	0.91970	0.563000	0.77884	GCT	RSBN1	-	NULL	ENSG00000081019		0.408	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	-	0	67	0	G	NM_018364		114308744	-1	tier1	-	no_errors	ENST00000261441	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	114308744	G	T	114308744	3	4	13	1	0	0	0	0	1	0	0	0	13741	971	34	3	145	3	RSBN1	1	114308744	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	642205	114308744	134941877	30	3576											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144931675	144931675	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgctggtttccacacaGctctcgggcacagatcctgc	6	8	11	16	3	1	1	0	0	1	1	4	1	3	1	3	2	2	4	3	2	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:144931675G>T	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L12M|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L12M			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCCACACAGCTCTCGGGCA	0.622			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													47	49	49					1																	144931675		2203	4300	6503	SO:0001627	intron_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7854C>A	1.37:g.144931675G>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L12M	ENST00000369354.3	37	c.34	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740802	0.89573	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.35605	1.3;1.34	5.44	5.44	0.79542	.	.	.	.	.	T	0.52581	0.1743	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55823	-0.8080	9	0.87932	D	0	.	16.7495	0.85481	0.0:0.0:1.0:0.0	.	12	Q5VU43-2	.	M	12	ENSP00000316434:L12M;ENSP00000433392:L12M	ENSP00000316434:L12M	L	-	1	2	PDE4DIP	143643032	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.555000	0.86185	0.462000	0.41574	CTG	PDE4DIP	-	NULL	ENSG00000178104		0.622	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2		0	108	0	G	NM_022359		144931675	-1			no_errors	ENST00000313431	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	144931675	G	T	144931675	1	4	13	0	1	0	0	0	0	0	0	0	11682	962	34	3		3	PDE4DIP	1	144931675	Intron	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	30622931	144931675	104318946	31	3577											
NBPF10	100132406	genome.wustl.edu	37	chr1	145354324	145354324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagGgcctgaagtcttgcaggact	10	8	16	7	0	1	2	0	2	1	1	1	6	1	5	1	4	3	3	1	4	2	1	rs372557852		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:145354324G>A	ENST00000369339.3	+	11	1323	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000342960.5_Missense_Mutation_p.G2751E			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	628						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GATGAGAAAGGGCCTGAAGTC	0.478																																																	0																																										SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1070G>A	1.37:g.145354324G>A	ENSP00000358345:p.Gly357Glu		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.G2751E	ENST00000369339.3	37	c.8252		1	.	.	.	.	.	.	.	.	.	.	.	0	-2.674612	0.00104	.	.	ENSG00000163386	ENST00000448873;ENST00000342960	T	0.02579	4.24	0.557	0.557	0.17260	.	.	.	.	.	T	0.00178	0.0005	N	0.00237	-1.79	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36817	-0.9732	8	0.02654	T	1	.	.	.	.	.	2507	A6NDV3	.	E	553;2751	ENSP00000345684:G2751E	ENSP00000345684:G2751E	G	+	2	0	NBPF10	144065681	0.001000	0.12720	0.017000	0.16124	0.016000	0.09150	0.195000	0.17155	-0.360000	0.08138	-1.353000	0.01230	GGG	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.478	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	-	0	11	0	G	NM_001039703		145354324	1	tier1	-	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.022	A	A	145354324	G	A	145354324	3	1	13	1	0	0	0	0	1	0	0	0	10231	1232	43	3	8514	3	NBPF10	1	145354324	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	422649	145354324	103896297	32	3578											
HFE2	148738	genome.wustl.edu	37	chr1	145415834	145415834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacgctaccgccacccGgaaggtcaggcactcaatct	10	5	10	16	3	3	0	2	0	1	0	3	1	3	1	4	4	2	2	4	4	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:145415834G>A	ENST00000336751.5	+	3	891	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.R105Q	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	218					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCGCCACCCGGAAGGTCAGG	0.567																																																	0													89	93	92					1																	145415834		2203	4300	6503	SO:0001583	missense	0			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.653G>A	1.37:g.145415834G>A	ENSP00000337014:p.Arg218Gln		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.R218Q	ENST00000336751.5	37	c.653	CCDS910.1	1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049299	0.36181	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97352	-4.35;-4.35	4.32	4.32	0.51571	Repulsive guidance molecule, N-terminal (1);	0.153339	0.39985	N	0.001208	D	0.88377	0.6420	N	0.22421	0.69	0.80722	D	1	P	0.43578	0.811	B	0.33339	0.162	D	0.90164	0.4230	10	0.51188	T	0.08	-16.8334	10.2559	0.43397	0.0:0.2013:0.7987:0.0	.	218	Q6ZVN8	RGMC_HUMAN	Q	105;218	ENSP00000350495:R105Q;ENSP00000337014:R218Q	ENSP00000337014:R218Q	R	+	2	0	HFE2	144127191	0.995000	0.38212	0.998000	0.56505	0.541000	0.35023	2.400000	0.44504	2.237000	0.73441	0.558000	0.71614	CGG	HFE2	-	pfam_RGM_N	ENSG00000168509		0.567	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HFE2	HGNC	protein_coding	OTTHUMT00000038527.1	-	0	21	0	G	NM_145277		145415834	1	tier1	-	no_errors	ENST00000336751	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.982	A	A	145415834	G	A	145415834	3	1	13	1	0	0	0	0	1	0	0	0	7109	1116	39	1	659	1	HFE2	1	145415834	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	61510	145415834	103834787	33	3579											
GJA5	2702	genome.wustl.edu	37	chr1	147230937	147230937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccttccattcccttccTcccagcaggacagttctgcc	7	11	5	18	0	1	0	0	0	1	0	6	1	6	1	6	1	2	2	6	1	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:147230937T>C	ENST00000271348.2	-	2	571	c.410A>G	c.(409-411)gAg>gGg	p.E137G	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.E137G	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	137					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ATTCCCTTCCTCCCAGCAGGA	0.607																																																	0													79	75	76					1																	147230937		2203	4300	6503	SO:0001583	missense	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.410A>G	1.37:g.147230937T>C	ENSP00000271348:p.Glu137Gly		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.E137G	ENST00000271348.2	37	c.410	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558288	0.45590	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97831	-4.5;-4.5;-4.56	5.68	4.56	0.56223	.	0.438779	0.21716	N	0.070186	D	0.93051	0.7788	L	0.56769	1.78	0.30897	N	0.729697	B	0.11235	0.004	B	0.12837	0.008	D	0.88226	0.2900	10	0.26408	T	0.33	.	11.086	0.48086	0.0:0.0719:0.0:0.9281	.	137	P36382	CXA5_HUMAN	G	137	ENSP00000271348:E137G;ENSP00000358240:E137G;ENSP00000407645:E137G	ENSP00000271348:E137G	E	-	2	0	GJA5	145697561	0.997000	0.39634	1.000000	0.80357	0.873000	0.50193	2.744000	0.47450	2.163000	0.67991	0.460000	0.39030	GAG	GJA5	-	NULL	ENSG00000143140		0.607	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2		0	40	0	T	NM_181703		147230937	-1			no_errors	ENST00000271348	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	C	C	147230937	T	C	147230937	3	2	13	1	0	0	0	0	1	0	0	0	6430	1551	54	4	670	4	GJA5	1	147230937	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1815103	147230937	102019684	34	3580											
VPS45	11311	genome.wustl.edu	37	chr1	150040691	150040691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttttgtttttacagactgGcatagtgagtatggtataca	10	17	9	5	0	1	2	0	1	1	1	1	2	1	2	0	2	2	4	0	2	5	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:150040691G>T	ENST00000369130.3	+	2	644	c.98G>T	c.(97-99)gGc>gTc	p.G33V	VPS45_ENST00000369128.5_5'UTR|VPS45_ENST00000535106.1_Missense_Mutation_p.G33V	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	33					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.G33D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTACAGACTGGCATAGTGAGT	0.348																																																	1	Substitution - Missense(1)	prostate(1)											95	90	92					1																	150040691		2203	4300	6503	SO:0001583	missense	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.98G>T	1.37:g.150040691G>T	ENSP00000358126:p.Gly33Val		D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.G33V	ENST00000369130.3	37	c.98	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806979	0.70797	.	.	ENSG00000136631	ENST00000369130;ENST00000535106;ENST00000419023	T;T;T	0.32272	1.46;1.46;1.46	5.23	5.23	0.72850	.	0.188529	0.56097	D	0.000033	T	0.23054	0.0557	M	0.61703	1.905	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.29440	0.102;0.102	T	0.03325	-1.1048	10	0.32370	T	0.25	.	16.6541	0.85224	0.0:0.0:1.0:0.0	.	33;33	Q53FR8;Q9NRW7	.;VPS45_HUMAN	V	33	ENSP00000358126:G33V;ENSP00000440690:G33V;ENSP00000400143:G33V	ENSP00000358126:G33V	G	+	2	0	VPS45	148307315	1.000000	0.71417	0.922000	0.36590	0.970000	0.65996	9.404000	0.97306	2.596000	0.87737	0.650000	0.86243	GGC	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.348	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1		0	51	0	G	NM_007259		150040691	1			no_errors	ENST00000369130	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	150040691	G	T	150040691	3	4	13	1	0	0	0	0	1	0	0	0	17260	1203	42	3	104	3	VPS45	1	150040691	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2809754	150040691	99209930	35	3581											
HORMAD1	84072	genome.wustl.edu	37	chr1	150691959	150691959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcataccatgggagtcCtctgcaactgggcagtggcc	10	8	12	11	0	2	0	1	0	1	0	3	2	3	1	3	3	3	2	3	3	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:150691959C>G	ENST00000361824.2	-	2	128	c.23G>C	c.(22-24)aGg>aCg	p.R8T	HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000368993.2_Missense_Mutation_p.R8T|HORMAD1_ENST00000322343.7_Missense_Mutation_p.R8T|HORMAD1_ENST00000476530.1_5'UTR	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	8					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CATGGGAGTCCTCTGCAACTG	0.353																																																	0													109	111	110					1																	150691959		2203	4299	6502	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.23G>C	1.37:g.150691959C>G	ENSP00000355167:p.Arg8Thr		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.R8T	ENST00000361824.2	37	c.23	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907683	0.52333	.	.	ENSG00000143452	ENST00000368993;ENST00000322343;ENST00000361824	T;T;T	0.36157	1.27;1.29;1.27	5.91	5.0	0.66597	.	0.209202	0.45126	D	0.000398	T	0.31263	0.0791	M	0.65498	2.005	0.38002	D	0.934272	P;P	0.45474	0.779;0.859	B;P	0.47346	0.369;0.544	T	0.28839	-1.0031	10	0.66056	D	0.02	-8.649	11.0043	0.47624	0.0:0.9153:0.0:0.0847	.	8;8	Q86X24-2;Q86X24	.;HORM1_HUMAN	T	8	ENSP00000357989:R8T;ENSP00000326489:R8T;ENSP00000355167:R8T	ENSP00000326489:R8T	R	-	2	0	HORMAD1	148958583	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.860000	0.48372	1.509000	0.48786	-0.136000	0.14681	AGG	HORMAD1	-	NULL	ENSG00000143452		0.353	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	-	0	53	0	C	NM_032132		150691959	-1	tier1	-	no_errors	ENST00000361824	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	G	G	150691959	C	G	150691959	3	3	13	1	0	0	0	0	1	0	0	0	7313	681	24	5	1217	5	HORMAD1	1	150691959	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	651268	150691959	98558662	36	3582											
HRNR	388697	genome.wustl.edu	37	chr1	152191663	152191663	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtgttgcccaaaaccagaAgcctggcctgagccagactc	10	7	10	14	1	0	3	0	1	0	2	2	3	0	3	5	1	4	1	5	1	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152191663A>C	ENST00000368801.2	-	3	2517	c.2442T>G	c.(2440-2442)gcT>gcG	p.A814A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	814					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAACCAGAAGCCTGGCCTG	0.567																																																	0													69	75	73					1																	152191663		2203	4300	6503	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2442T>G	1.37:g.152191663A>C			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.A814	ENST00000368801.2	37	c.2442	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	126	0	A	XM_373868		152191663	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	5.15	92	5	SNP	0.008	C	C	152191663	A	C	152191663	2	2	13	1	0	0	0	0	0	0	0	1	7386	59	3	4		4	HRNR	1	152191663	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1499704	152191663	97058958	37	3583											
FLG	2312	genome.wustl.edu	37	chr1	152283719	152283719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagtttgtctgcttgcacTtctggatcctgactgcccat	6	14	9	12	1	2	1	0	1	2	0	3	3	3	2	2	1	3	3	2	1	0	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152283719T>G	ENST00000368799.1	-	3	3678	c.3643A>C	c.(3643-3645)Agt>Cgt	p.S1215R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1215	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGATCCT	0.552									Ichthyosis																																								0													355	350	351					1																	152283719		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3643A>C	1.37:g.152283719T>G	ENSP00000357789:p.Ser1215Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1215R	ENST00000368799.1	37	c.3643	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	2.866	-0.235137	0.05983	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	0.835	-0.724	0.11177	.	.	.	.	.	T	0.00784	0.0026	M	0.73962	2.25	0.09310	N	1	P	0.39520	0.676	B	0.39706	0.307	T	0.43442	-0.9391	9	0.15952	T	0.53	.	3.4165	0.07377	0.0:0.6402:0.0:0.3598	.	1215	P20930	FILA_HUMAN	R	1215	ENSP00000357789:S1215R	ENSP00000357789:S1215R	S	-	1	0	FLG	150550343	.	.	0.002000	0.10522	0.123000	0.20343	.	.	-0.179000	0.10654	0.156000	0.16432	AGT	FLG	-	NULL	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	194	0	T	NM_002016		152283719	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	16.06	115	22	SNP	0.001	G	G	152283719	T	G	152283719	3	3	13	1	0	0	0	0	1	0	0	0	5944	1609	56	4	8546	4	FLG	1	152283719	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	92056	152283719	96966902	38	3584											
FLG	2312	genome.wustl.edu	37	chr1	152286751	152286751	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtcttctttctcttcaAgtctttcacttagcctcttc	5	20	3	13	0	7	0	2	0	5	0	9	0	7	0	1	0	1	0	1	0	2	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152286751A>C	ENST00000368799.1	-	3	646	c.611T>G	c.(610-612)cTt>cGt	p.L204R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	204					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTCTTCAAGTCTTTCACT	0.323									Ichthyosis																																								0													93	100	98					1																	152286751		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.611T>G	1.37:g.152286751A>C	ENSP00000357789:p.Leu204Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.L204R	ENST00000368799.1	37	c.611	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	4.658	0.122397	0.08931	.	.	ENSG00000143631	ENST00000368799	T	0.00678	5.87	3.53	-4.34	0.03666	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	P	0.42827	0.791	B	0.38020	0.263	T	0.34750	-0.9816	9	0.14252	T	0.57	9.5885	2.5343	0.04711	0.1028:0.1403:0.2803:0.4765	.	204	P20930	FILA_HUMAN	R	204	ENSP00000357789:L204R	ENSP00000357789:L204R	L	-	2	0	FLG	150553375	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.287000	0.00526	-0.591000	0.05859	-0.424000	0.05967	CTT	FLG	-	NULL	ENSG00000143631		0.323	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	28	0	A	NM_002016		152286751	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	18.18	35	8	SNP	0.000	C	C	152286751	A	C	152286751	3	2	13	1	0	0	0	0	1	0	0	0	5944	72	3	4	11578	4	FLG	1	152286751	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3032	152286751	96963870	39	3585											
FLG2	388698	genome.wustl.edu	37	chr1	152329678	152329678	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctggaaccatgtctgTctttgccaccactccatgaa	10	10	8	13	0	2	2	0	1	2	1	3	3	3	3	4	1	3	1	4	1	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152329678T>C	ENST00000388718.5	-	3	656	c.584A>G	c.(583-585)gAc>gGc	p.D195G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	195	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATGTCTGTCTTTGCCACC	0.463																																																	0													197	199	199					1																	152329678		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.584A>G	1.37:g.152329678T>C	ENSP00000373370:p.Asp195Gly		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.D195G	ENST00000388718.5	37	c.584	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	8.133	0.783435	0.16189	.	.	ENSG00000143520	ENST00000388718	T	0.00678	5.87	5.61	2.97	0.34412	.	.	.	.	.	T	0.00210	0.0006	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.52983	-0.8502	9	0.62326	D	0.03	-7.2404	6.0125	0.19584	0.1608:0.0:0.1672:0.672	.	195	Q5D862	FILA2_HUMAN	G	195	ENSP00000373370:D195G	ENSP00000373370:D195G	D	-	2	0	FLG2	150596302	0.003000	0.15002	0.957000	0.39632	0.011000	0.07611	0.405000	0.21015	2.134000	0.65973	0.528000	0.53228	GAC	FLG2	-	NULL	ENSG00000143520		0.463	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	41	0	T	NM_001014342		152329678	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.022	C	C	152329678	T	C	152329678	3	2	13	1	0	0	0	0	1	0	0	0	5945	1667	58	4	6595	4	FLG2	1	152329678	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	42927	152329678	96920943	40	3586											
LCE1E	353135	genome.wustl.edu	37	chr1	152760062	152760062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagagctctgactgctGcagccagccctcagggggct	7	6	12	16	0	2	2	1	1	1	1	2	2	2	2	4	2	5	4	4	2	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:152760062G>T	ENST00000368770.3	+	2	340	c.287G>T	c.(286-288)tGc>tTc	p.C96F	LCE1E_ENST00000368771.1_Missense_Mutation_p.C96F	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	96	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGACTGCTGCAGCCAGCCC	0.657																																																	0													33	47	43					1																	152760062		2184	4286	6470	SO:0001583	missense	0			BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"Late cornified envelopes"	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.287G>T	1.37:g.152760062G>T	ENSP00000357759:p.Cys96Phe		D3DV30	Missense_Mutation	SNP	NULL	p.C96F	ENST00000368770.3	37	c.287	CCDS1024.1	1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633943	0.03584	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.05649	3.41;3.41	4.06	3.15	0.36227	.	0.000000	0.38548	N	0.001641	T	0.07279	0.0184	M	0.89287	3.02	0.26950	N	0.966044	P	0.40794	0.729	P	0.45232	0.474	T	0.06127	-1.0844	10	0.87932	D	0	.	7.8025	0.29183	0.1173:0.0:0.8827:0.0	.	96	Q5T753	LCE1E_HUMAN	F	96	ENSP00000357760:C96F;ENSP00000357759:C96F	ENSP00000357759:C96F	C	+	2	0	LCE1E	151026686	0.997000	0.39634	0.976000	0.42696	0.019000	0.09904	2.875000	0.48491	1.036000	0.39998	0.514000	0.50259	TGC	LCE1E	-	NULL	ENSG00000186226		0.657	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1E	HGNC	protein_coding	OTTHUMT00000034525.1	-	0	75	0	G	NM_178353		152760062	1	tier1	-	no_errors	ENST00000368770	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.997	T	T	152760062	G	T	152760062	3	4	13	1	0	0	0	0	1	0	0	0	8691	1319	46	3	289	3	LCE1E	1	152760062	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	430384	152760062	96490559	41	3587											
DENND4B	9909	genome.wustl.edu	37	chr1	153913489	153913489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgatagccagctcagggCccaggctctgcagcagctgc	7	7	14	13	0	2	1	1	1	1	0	2	1	2	1	2	2	6	5	2	2	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:153913489C>T	ENST00000361217.4	-	9	1635	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	406	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGCTCAGGGCCCAGGCTCTG	0.642																																																	0													13	17	16					1																	153913489		2052	4169	6221	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1217G>A	1.37:g.153913489C>T	ENSP00000354597:p.Gly406Asp		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G406D	ENST00000361217.4	37	c.1217	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673206	0.88445	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12255	2.7;2.7	4.11	4.11	0.48088	DENN (3);	0.060403	0.64402	D	0.000004	T	0.26666	0.0652	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01853	-1.1260	10	0.52906	T	0.07	-10.9264	15.6194	0.76793	0.0:1.0:0.0:0.0	.	406	O75064	DEN4B_HUMAN	D	406;417	ENSP00000354597:G406D;ENSP00000357635:G417D	ENSP00000354597:G406D	G	-	2	0	DENND4B	152180113	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.736000	0.62059	2.294000	0.77228	0.462000	0.41574	GGC	DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0	29	0	C	XM_375806		153913489	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T	T	153913489	C	T	153913489	3	4	13	1	0	0	0	0	1	0	0	0	4448	739	26	3	3353	3	DENND4B	1	153913489	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1153427	153913489	95337132	42	3588											
SHE	126669	genome.wustl.edu	37	chr1	154474133	154474133	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcctcctccgtggcccGggagtttttgcggcccttgc	1	11	14	15	3	0	0	0	0	0	0	3	1	3	1	5	4	2	2	5	4	0	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:154474133G>T	ENST00000304760.2	-	1	456	c.370C>A	c.(370-372)Cgg>Agg	p.R124R	TDRD10_ENST00000368480.3_5'Flank|TDRD10_ENST00000368482.4_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	124										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCGTGGCCCGGGAGTTTTTG	0.682																																																	0													38	37	38					1																	154474133		2202	4300	6502	SO:0001819	synonymous_variant	0			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.370C>A	1.37:g.154474133G>T			Q8TEQ5	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R124	ENST00000304760.2	37	c.370	CCDS30877.1	1																																																																																			SHE	-	NULL	ENSG00000169291		0.682	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2		0	18	0	G	NM_001010846		154474133	-1			no_errors	ENST00000304760	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.993	T	T	154474133	G	T	154474133	2	4	13	1	0	0	0	0	0	0	0	1	14321	1115	39	2		2	SHE	1	154474133	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	560644	154474133	94776488	43	3589											
ZBTB7B	51043	genome.wustl.edu	37	chr1	154987372	154987372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccgggggtagcgggaCggccactgggggagcagggg	5	2	26	8	3	0	0	0	0	0	0	0	2	0	2	2	10	2	2	2	10	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:154987372C>T	ENST00000368426.3	+	3	373	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T79M|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T79M|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T113M|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTAGCGGGACGGCCACTGGG	0.632																																																	0													31	37	35					1																	154987372		2203	4300	6503	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.236C>T	1.37:g.154987372C>T	ENSP00000357411:p.Thr79Met		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T113M	ENST00000368426.3	37	c.338	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	C	0.874	-0.730879	0.03135	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	3.66	0.294	0.15747	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.506287	0.15964	N	0.236108	T	0.15522	0.0374	N	0.01096	-1.015	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.12156	0.007;0.001;0.007	T	0.31641	-0.9936	10	0.40728	T	0.16	.	5.1431	0.14969	0.0:0.6034:0.1781:0.2185	.	79;79;113	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	M	79;79;113;79	ENSP00000438647:T79M;ENSP00000357411:T79M;ENSP00000406286:T113M;ENSP00000292176:T79M	ENSP00000292176:T79M	T	+	2	0	ZBTB7B	153253996	0.000000	0.05858	0.038000	0.18304	0.008000	0.06430	0.328000	0.19681	0.170000	0.19704	0.455000	0.32223	ACG	ZBTB7B	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000160685		0.632	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1	-	0	51	0	C	NM_015872		154987372	1	tier1	-	no_errors	ENST00000417934	ensembl	human	known	74_37	missense	15.69	43	8	SNP	0.001	T	T	154987372	C	T	154987372	3	4	13	1	0	0	0	0	1	0	0	0	17602	536	19	1	238	1	ZBTB7B	1	154987372	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	513239	154987372	94263249	44	3590											
ASH1L	55870	genome.wustl.edu	37	chr1	155448920	155448920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcttacatttgtgtttatgTttttctttaagactgcttag	7	21	7	6	1	1	1	0	0	1	1	1	1	1	1	0	0	2	4	0	0	4	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:155448920T>C	ENST00000368346.3	-	3	4380	c.3741A>G	c.(3739-3741)aaA>aaG	p.K1247K	ASH1L_ENST00000392403.3_Silent_p.K1247K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1247					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGTGTTTATGTTTTTCTTTAA	0.393																																																	0													170	178	175					1																	155448920		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3741A>G	1.37:g.155448920T>C			Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.K1247	ENST00000368346.3	37	c.3741		1																																																																																			ASH1L	-	NULL	ENSG00000116539		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0	30	0	T	NM_018489		155448920	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	silent	50.00	13	13	SNP	1.000	C	C	155448920	T	C	155448920	2	2	13	1	0	0	0	0	0	0	0	1	1042	1722	60	4		4	ASH1L	1	155448920	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	461548	155448920	93801701	45	3591											
SPTA1	6708	genome.wustl.edu	37	chr1	158617477	158617477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctggatgggactcacTgagccgctctgctgtctccc	5	10	12	14	1	4	1	1	1	3	0	5	3	4	3	2	3	2	3	2	3	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:158617477T>C	ENST00000368147.4	-	27	3928	c.3748A>G	c.(3748-3750)Agt>Ggt	p.S1250G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1250					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGACTCACTGAGCCGCTCT	0.527																																																	0													69	68	68					1																	158617477		1953	4170	6123	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3748A>G	1.37:g.158617477T>C	ENSP00000357129:p.Ser1250Gly		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S1250G	ENST00000368147.4	37	c.3748	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	9.548	1.115042	0.20795	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	4.71	-9.41	0.00613	.	1.407460	0.05131	N	0.492500	T	0.10766	0.0263	L	0.39245	1.2	0.09310	N	1	B	0.19706	0.038	B	0.30495	0.116	T	0.19712	-1.0297	10	0.27082	T	0.32	.	10.9155	0.47133	0.7045:0.0:0.0887:0.2067	.	1250	P02549	SPTA1_HUMAN	G	1250	ENSP00000357130:S1250G;ENSP00000357129:S1250G	ENSP00000357129:S1250G	S	-	1	0	SPTA1	156884101	1.000000	0.71417	0.001000	0.08648	0.132000	0.20833	1.409000	0.34680	-2.351000	0.00617	-1.829000	0.00594	AGT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.527	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	30	0	T	NM_003126		158617477	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.311	C	C	158617477	T	C	158617477	3	2	13	1	0	0	0	0	1	0	0	0	15163	1580	55	4	3615	4	SPTA1	1	158617477	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3168557	158617477	90633144	46	3592											
OR10J3	441911	genome.wustl.edu	37	chr1	159284376	159284376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacaacaaagaagacaagtTtgtgctgccgcctgaagctg	14	7	11	9	1	0	4	0	1	0	3	0	4	0	4	2	0	4	3	2	0	5	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:159284376T>C	ENST00000332217.5	-	1	73	c.74A>G	c.(73-75)aAa>aGa	p.K25R		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAAGACAAGTTTGTGCTGCCG	0.443																																																	0													185	193	191					1																	159284376		2203	4300	6503	SO:0001583	missense	0				CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"GPCR / Class A : Olfactory receptors"	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.74A>G	1.37:g.159284376T>C	ENSP00000331789:p.Lys25Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K25R	ENST00000332217.5	37	c.74	CCDS30909.1	1	.	.	.	.	.	.	.	.	.	.	T	1.187	-0.636437	0.03557	.	.	ENSG00000196266	ENST00000332217	T	0.00344	8.02	5.13	4.22	0.49857	.	0.000000	0.31872	N	0.006921	T	0.00039	0.0001	N	0.03268	-0.37	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32587	-0.9901	10	0.38643	T	0.18	.	7.6716	0.28462	0.0:0.8153:0.0:0.1847	.	25	Q5JRS4	O10J3_HUMAN	R	25	ENSP00000331789:K25R	ENSP00000331789:K25R	K	-	2	0	OR10J3	157551000	0.004000	0.15560	0.895000	0.35142	0.010000	0.07245	1.731000	0.38135	1.390000	0.46547	-0.232000	0.12228	AAA	OR10J3	-	NULL	ENSG00000196266		0.443	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J3	HGNC	protein_coding	OTTHUMT00000090629.1	-	0	60	0	T			159284376	-1	tier1	-	no_errors	ENST00000332217	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.062	C	C	159284376	T	C	159284376	3	2	13	1	0	0	0	0	1	0	0	0	10950	1841	64	4	917	4	OR10J3	1	159284376	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	666899	159284376	89966245	47	3593											
METTL13	51603	genome.wustl.edu	37	chr1	171763613	171763613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagttgtccgcccccaGcatttgtggagcaatctttt	8	13	10	10	1	1	1	0	1	1	0	2	3	2	2	3	1	2	3	3	1	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:171763613G>T	ENST00000361735.3	+	7	2037	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	METTL13_ENST00000362019.3_Missense_Mutation_p.A505S|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000367737.5_Missense_Mutation_p.A435S|METTL13_ENST00000458517.1_Missense_Mutation_p.A590S	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	591							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCCGCCCCCAGCATTTGTGGA	0.463																																																	0													88	79	82					1																	171763613		2203	4300	6503	SO:0001583	missense	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1771G>T	1.37:g.171763613G>T	ENSP00000354920:p.Ala591Ser		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.A591S	ENST00000361735.3	37	c.1771	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245644	0.80024	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	L	0.31294	0.92	0.80722	D	1	B;D;P	0.61697	0.012;0.99;0.587	B;P;B	0.56648	0.049;0.803;0.336	T	0.65861	-0.6065	10	0.09338	T	0.73	-37.8524	19.7484	0.96259	0.0:0.0:1.0:0.0	.	590;435;591	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	S	590;505;435;591;291;288	ENSP00000401955:A590S;ENSP00000355393:A505S;ENSP00000356711:A435S;ENSP00000354920:A591S;ENSP00000356710:A291S	ENSP00000341732:A288S	A	+	1	0	METTL13	170030236	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.126000	0.94411	2.758000	0.94735	0.655000	0.94253	GCA	METTL13	-	pfam_Spermidine/spermine_synthase	ENSG00000010165		0.463	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0	75	0	G	NM_014955		171763613	1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	171763613	G	T	171763613	3	4	13	1	0	0	0	0	1	0	0	0	9535	971	34	3	1797	3	METTL13	1	171763613	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	12479237	171763613	77487008	48	3594											
C1orf125	126859	genome.wustl.edu	37	chr1	179380295	179380295	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatagaatagtagaagaatAtcatgacttatatacattac	18	14	5	4	0	1	4	1	1	0	3	1	4	1	4	0	0	2	1	0	0	12	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:179380295A>C	ENST00000367618.3	+	12	1511	c.1124A>C	c.(1123-1125)tAt>tCt	p.Y375S	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.Y375S	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	375										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GTAGAAGAATATCATGACTTA	0.269																																																	0													56	67	63					1																	179380295		2203	4295	6498	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1124A>C	1.37:g.179380295A>C	ENSP00000356590:p.Tyr375Ser		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.Y375S	ENST00000367618.3	37	c.1124	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454272	0.63290	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.61158	1.25;0.13;1.4	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.71036	2.16	0.36044	D	0.840292	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.80808	-0.1217	10	0.66056	D	0.02	-14.276	11.7117	0.51628	1.0:0.0:0.0:0.0	.	333;375;375	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	S	375;333;375;309	ENSP00000356590:Y375S;ENSP00000416712:Y375S;ENSP00000391716:Y309S	ENSP00000353471:Y333S	Y	+	2	0	AXDND1	177646918	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.487000	0.60293	2.064000	0.61679	0.477000	0.44152	TAT	AXDND1	-	NULL	ENSG00000162779		0.269	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	-	0	143	0	A	NM_144696		179380295	1	tier1	-	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	30.77	81	36	SNP	1.000	C	C	179380295	A	C	179380295	3	2	13	1	0	0	0	0	1	0	0	0	2000	449	16	4	1166	4	C1orf125	1	179380295	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7616682	179380295	69870326	49	3595											
CEP350	9857	genome.wustl.edu	37	chr1	180059910	180059910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacgttccagaggatccctgGagtctattgctgaacatgtt	10	12	10	9	1	1	2	0	1	1	1	3	4	3	4	2	2	3	3	2	2	3	4	rs541399557		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:180059910G>C	ENST00000367607.3	+	33	6905	c.6487G>C	c.(6487-6489)Gag>Cag	p.E2163Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2163					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGATCCCTGGAGTCTATTGC	0.348																																																	0													58	59	58					1																	180059910		2191	4270	6461	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6487G>C	1.37:g.180059910G>C	ENSP00000356579:p.Glu2163Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.E2163Q	ENST00000367607.3	37	c.6487	CCDS1336.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.734940|4.734940	0.89482|0.89482	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|.	0.59502|.	0.26|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.47852|.	D|.	0.000214|.	T|T	0.61035|0.61035	0.2315|0.2315	L|L	0.51422|0.51422	1.61|1.61	0.31903|0.31903	N|N	0.615656|0.615656	P;P|.	0.47841|.	0.813;0.901|.	B;B|.	0.40444|.	0.328;0.329|.	T|T	0.63963|0.63963	-0.6518|-0.6518	9|5	.|.	.|.	.|.	.|.	17.8522|17.8522	0.88750|0.88750	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2163;2163|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Q|A	2163|337	ENSP00000356579:E2163Q|.	.|.	E|G	+|+	1|2	0|0	CEP350|CEP350	178326533|178326533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	4.673000|4.673000	0.61604|0.61604	2.648000|2.648000	0.89879|0.89879	0.591000|0.591000	0.81541|0.81541	GAG|GGA	CEP350	-	NULL	ENSG00000135837		0.348	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0	143	0	G	NM_014810		180059910	1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	7.77	95	8	SNP	1.000	C	C	180059910	G	C	180059910	3	2	13	1	0	0	0	0	1	0	0	0	3261	1175	41	5	6613	5	CEP350	1	180059910	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	679615	180059910	69190711	50	3596											
NPL	80896	genome.wustl.edu	37	chr1	182787987	182787987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggagcaactggagcaGtgggcaggtaagcatgactc	11	7	16	7	0	0	2	0	2	0	0	1	4	0	4	0	4	4	5	0	4	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:182787987G>T	ENST00000367553.1	+	9	690	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	NPL_ENST00000367555.1_Intron|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367554.3_Missense_Mutation_p.V197L|NPL_ENST00000367552.2_Intron|NPL_ENST00000258317.2_Missense_Mutation_p.V216L	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	216					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGGAGCAGTGGGCAGGTA	0.398																																																	0													85	92	90					1																	182787987		2203	4300	6503	SO:0001583	missense	0			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 1 (E. coli)"	611412	"chromosome 1 open reading frame 13"	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.646G>T	1.37:g.182787987G>T	ENSP00000356524:p.Val216Leu		B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Missense_Mutation	SNP	pfam_DapA-like,prints_DapA-like	p.V216L	ENST00000367553.1	37	c.646	CCDS1350.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.318745|4.318745	0.81469|0.81469	.|.	.|.	ENSG00000135838|ENSG00000135838	ENST00000445965|ENST00000367554;ENST00000367553;ENST00000258317	.|D;D;D	.|0.95588	.|-3.75;-3.75;-3.75	5.48|5.48	4.56|4.56	0.56223|0.56223	.|Aldolase-type TIM barrel (1);	.|0.060951	.|0.64402	.|D	.|0.000004	D|D	0.96256|0.96256	0.8779|0.8779	M|M	0.72894|0.72894	2.215|2.215	0.49213|0.49213	D|D	0.999765|0.999765	.|P;D;P	.|0.63046	.|0.833;0.992;0.953	.|P;P;P	.|0.56474	.|0.457;0.799;0.548	D|D	0.96123|0.96123	0.9086|0.9086	6|10	0.87932|0.72032	D|D	0|0.01	-7.4694|-7.4694	12.5447|12.5447	0.56193|0.56193	0.0795:0.0:0.9205:0.0|0.0795:0.0:0.9205:0.0	.|.	.|216;216;197	.|Q9BXD5;Q9BXD5-3;Q9BXD5-2	.|NPL_HUMAN;.;.	I|L	131|197;216;216	.|ENSP00000356525:V197L;ENSP00000356524:V216L;ENSP00000258317:V216L	ENSP00000414118:S131I|ENSP00000258317:V216L	S|V	+|+	2|1	0|0	NPL|NPL	181054610|181054610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.505000|5.505000	0.66981|0.66981	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	AGT|GTG	NPL	-	pfam_DapA-like	ENSG00000135838		0.398	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	-	0	28	0	G	NM_030769		182787987	1	tier1	-	no_errors	ENST00000258317	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	182787987	G	T	182787987	3	4	13	1	0	0	0	0	1	0	0	0	10624	1029	36	3	676	3	NPL	1	182787987	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2728077	182787987	66462634	51	3597											
HMCN1	83872	genome.wustl.edu	37	chr1	185988735	185988735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaaatacaagcctgtcGccttgcagtgcatagccaat	12	10	9	10	1	0	0	0	0	0	0	1	0	0	0	3	1	5	3	3	1	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:185988735G>A	ENST00000271588.4	+	35	5762	c.5533G>A	c.(5533-5535)Gcc>Acc	p.A1845T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1845T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1845	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGCCTGTCGCCTTGCAGTG	0.438																																																	0													113	107	109					1																	185988735		2203	4299	6502	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5533G>A	1.37:g.185988735G>A	ENSP00000271588:p.Ala1845Thr		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A1845T	ENST00000271588.4	37	c.5533	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	2.719	-0.267043	0.05754	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	5.56	3.24	0.37175	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140928	0.64402	N	0.000006	T	0.21103	0.0508	N	0.00308	-1.67	0.23731	N	0.996992	B	0.06786	0.001	B	0.01281	0.0	T	0.36237	-0.9756	10	0.02654	T	1	.	9.8489	0.41043	0.8607:0.0:0.1393:0.0	.	1845	Q96RW7	HMCN1_HUMAN	T	1845	ENSP00000271588:A1845T;ENSP00000356462:A1845T	ENSP00000271588:A1845T	A	+	1	0	HMCN1	184255358	0.956000	0.32656	0.896000	0.35187	0.467000	0.32768	4.548000	0.60718	0.402000	0.25451	-0.247000	0.11927	GCC	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	48	0	G	NM_031935		185988735	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	A	A	185988735	G	A	185988735	3	1	13	1	0	0	0	0	1	0	0	0	7247	1087	38	1	5671	1	HMCN1	1	185988735	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3200748	185988735	63261886	52	3598											
HMCN1	83872	genome.wustl.edu	37	chr1	186083996	186083996	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatattcaatcagcacaTgtcactgacactggacggta	12	11	7	11	1	4	1	4	1	0	0	4	2	4	2	0	2	1	2	0	2	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:186083996T>C	ENST00000271588.4	+	74	11551	c.11322T>C	c.(11320-11322)caT>caC	p.H3774H	HMCN1_ENST00000367492.2_Silent_p.H3774H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3774	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATCAGCACATGTCACTGACA	0.398																																																	0													167	163	164					1																	186083996		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11322T>C	1.37:g.186083996T>C			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.H3774	ENST00000271588.4	37	c.11322	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	59	0	T	NM_031935		186083996	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	6.25	75	5	SNP	0.784	C	C	186083996	T	C	186083996	2	2	13	1	0	0	0	0	0	0	0	1	7247	1461	51	4		4	HMCN1	1	186083996	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	95261	186083996	63166625	53	3599											
KCNT2	343450	genome.wustl.edu	37	chr1	196300370	196300370	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctatatatggagaataAggtgggtaacctttagcata	13	13	9	6	0	0	1	0	0	0	1	1	2	1	1	2	3	2	2	2	3	8	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:196300370A>C	ENST00000294725.9	-	18	2934	c.2019T>G	c.(2017-2019)ccT>ccG	p.P673P	KCNT2_ENST00000451324.2_Silent_p.P284P|KCNT2_ENST00000367431.4_Silent_p.P623P|KCNT2_ENST00000609185.1_Silent_p.P623P|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Silent_p.P673P			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	673					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGGAGAATAAGGTGGGTAAC	0.343																																																	0													140	153	149					1																	196300370		2203	4294	6497	SO:0001819	synonymous_variant	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2019T>G	1.37:g.196300370A>C			Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.P673	ENST00000294725.9	37	c.2019	CCDS1384.1	1																																																																																			KCNT2	-	NULL	ENSG00000162687		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2		0	88	0	A	NM_198503		196300370	-1			no_errors	ENST00000294725	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.634	C	C	196300370	A	C	196300370	2	2	13	1	0	0	0	0	0	0	0	1	8119	59	3	4		4	KCNT2	1	196300370	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	10216374	196300370	52950251	54	3600											
CFHR3	10878	genome.wustl.edu	37	chr1	196757426	196757426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatattttaaataaagaaAtacaatataaatgtaaacca	22	14	2	3	0	0	1	0	0	0	1	0	1	0	1	1	0	2	1	1	0	14	10			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:196757426A>T	ENST00000367425.4	+	4	603	c.511A>T	c.(511-513)Ata>Tta	p.I171L	CFHR3_ENST00000471440.2_Missense_Mutation_p.I171L|CFHR3_ENST00000391985.3_Intron	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	171	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						aaataaagaaatacaatataa	0.299																																																	0													20	27	25					1																	196757426		1766	4015	5781	SO:0001583	missense	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.511A>T	1.37:g.196757426A>T	ENSP00000356395:p.Ile171Leu		B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.I171L	ENST00000367425.4	37	c.511	CCDS30958.1	1	.	.	.	.	.	.	.	.	.	.	A	0.528	-0.858988	0.02610	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000542253	T;T	0.64085	-0.08;-0.08	2.94	-0.0933	0.13650	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.35682	0.0940	N	0.11364	0.135	0.09310	N	1	B;B	0.21452	0.015;0.056	B;B	0.22152	0.027;0.038	T	0.20107	-1.0285	9	0.22109	T	0.4	.	4.5329	0.12013	0.5356:0.0:0.4644:0.0	.	171;171	Q02985;Q6NSD3	FHR3_HUMAN;.	L	171	ENSP00000356395:I171L;ENSP00000436258:I171L	ENSP00000356395:I171L	I	+	1	0	CFHR3	195024049	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	0.116000	0.15561	0.193000	0.20303	0.322000	0.21391	ATA	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116785		0.299	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2		0	59	0	A	NM_021023		196757426	1			no_errors	ENST00000367425	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.001	T	T	196757426	A	T	196757426	3	4	13	1	0	0	0	0	1	0	0	0	3293	101	4	5	525	5	CFHR3	1	196757426	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	457056	196757426	52493195	55	3601											
ASPM	259266	genome.wustl.edu	37	chr1	197065138	197065138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatacattaccgtgttctctCtagtttggtatagaagcaac	11	14	8	8	1	2	1	0	0	2	1	3	2	2	1	1	1	4	4	1	1	7	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:197065138C>T	ENST00000367409.4	-	19	9233	c.8977G>A	c.(8977-8979)Gag>Aag	p.E2993K	ASPM_ENST00000294732.7_Missense_Mutation_p.E1408K|ASPM_ENST00000367408.1_Missense_Mutation_p.E658K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2993					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGTGTTCTCTCTAGTTTGGTA	0.323																																																	0													99	107	104					1																	197065138		2203	4299	6502	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8977G>A	1.37:g.197065138C>T	ENSP00000356379:p.Glu2993Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.E2993K	ENST00000367409.4	37	c.8977	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863815	0.32884	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;D	0.95171	-0.87;-0.87;-3.63	5.15	3.17	0.36434	.	0.329988	0.29205	N	0.012823	D	0.89044	0.6603	L	0.47716	1.5	0.09310	N	1	B;B;P	0.51351	0.437;0.267;0.944	B;B;B	0.39339	0.115;0.058;0.297	T	0.81174	-0.1053	10	0.05959	T	0.93	.	12.6741	0.56884	0.0:0.446:0.554:0.0	.	979;1408;2993	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	K	2993;1408;658;979	ENSP00000356379:E2993K;ENSP00000294732:E1408K;ENSP00000356378:E658K	ENSP00000294732:E1408K	E	-	1	0	ASPM	195331761	0.869000	0.29996	0.562000	0.28370	0.882000	0.50991	1.305000	0.33493	1.124000	0.41980	0.563000	0.77884	GAG	ASPM	-	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	ENSG00000066279		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0	30	0	C	NM_018136		197065138	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	15.56	37	7	SNP	0.428	T	T	197065138	C	T	197065138	3	4	13	1	0	0	0	0	1	0	0	0	1057	922	32	3	1496	3	ASPM	1	197065138	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	307712	197065138	52185483	56	3602											
LMOD1	25802	genome.wustl.edu	37	chr1	201869082	201869082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgttgaactccagagcCtcagtaaaccggaccaagat	14	7	9	11	1	1	3	1	1	0	2	2	4	2	4	4	1	3	2	4	1	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:201869082C>T	ENST00000367288.4	-	2	1305	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	353					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACTCCAGAGCCTCAGTAAACC	0.522																																																	0													110	110	110					1																	201869082		2093	4225	6318	SO:0001819	synonymous_variant	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1059G>A	1.37:g.201869082C>T			B1APV6|C4AMB1|Q68EN2	Silent	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E353	ENST00000367288.4	37	c.1059	CCDS53457.1	1																																																																																			LMOD1	-	NULL	ENSG00000163431		0.522	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	-	0	40	0	C			201869082	-1	tier1	-	no_errors	ENST00000367288	ensembl	human	known	74_37	silent	43.48	26	20	SNP	1.000	T	T	201869082	C	T	201869082	2	4	13	1	0	0	0	0	0	0	0	1	8886	680	24	3		3	LMOD1	1	201869082	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4803944	201869082	47381539	57	3603											
DSTYK	25778	genome.wustl.edu	37	chr1	205138757	205138757	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggagtctattatctcCgagcccagtttcggcacttt	7	14	10	10	2	2	1	0	1	2	0	4	3	2	2	2	2	1	3	2	2	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:205138757C>A	ENST00000367162.3	-	3	888	c.858G>T	c.(856-858)tcG>tcT	p.S286S	DSTYK_ENST00000367160.4_Silent_p.S286S|DSTYK_ENST00000367161.3_Silent_p.S286S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	286					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTATTATCTCCGAGCCCAGTT	0.463																																																	0													79	75	77					1																	205138757		2203	4300	6503	SO:0001819	synonymous_variant	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.858G>T	1.37:g.205138757C>A			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S286	ENST00000367162.3	37	c.858	CCDS1451.1	1																																																																																			DSTYK	-	NULL	ENSG00000133059		0.463	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	-	0	43	0	C	NM_015375		205138757	-1	tier1	-	no_errors	ENST00000367162	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.011	A	A	205138757	C	A	205138757	2	1	13	1	0	0	0	0	0	0	0	1	4799	639	23	2		2	DSTYK	1	205138757	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3269675	205138757	44111864	58	3604											
PIGR	5284	genome.wustl.edu	37	chr1	207103697	207103697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgtcctgggcctcggcgGccacggtgctggactggagc	3	6	18	14	4	0	0	0	0	0	0	2	2	1	2	4	7	2	1	4	7	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:207103697G>T	ENST00000356495.4	-	11	2444	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	754					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCTCGGCGGCCACGGTGCT	0.622																																																	0													48	49	49					1																	207103697		2203	4300	6503	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2261C>A	1.37:g.207103697G>T	ENSP00000348888:p.Ala754Asp		Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A754D	ENST00000356495.4	37	c.2261	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.689954	0.48097	.	.	ENSG00000162896	ENST00000356495	T	0.19105	2.17	5.45	5.45	0.79879	.	0.090393	0.48286	D	0.000185	T	0.43678	0.1258	M	0.66939	2.045	0.20196	N	0.999923	D	0.89917	1.0	D	0.67103	0.949	T	0.31641	-0.9936	10	0.72032	D	0.01	-6.5011	14.7811	0.69769	0.0:0.0:1.0:0.0	.	754	P01833	PIGR_HUMAN	D	754	ENSP00000348888:A754D	ENSP00000348888:A754D	A	-	2	0	PIGR	205170320	0.122000	0.22280	0.051000	0.19133	0.006000	0.05464	3.103000	0.50298	2.568000	0.86640	0.561000	0.74099	GCC	PIGR	-	NULL	ENSG00000162896		0.622	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0	47	0	G	NM_002644		207103697	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.194	T	T	207103697	G	T	207103697	3	4	13	1	0	0	0	0	1	0	0	0	11936	1203	42	3	37	3	PIGR	1	207103697	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1964940	207103697	42146924	59	3605											
USH2A	7399	genome.wustl.edu	37	chr1	216074201	216074201	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagacaacctgaagactGgttggagtggcagatgaaag	14	6	14	7	0	0	5	0	2	0	3	0	7	0	6	2	3	1	2	2	3	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:216074201G>T	ENST00000307340.3	-	39	7733	c.7347C>A	c.(7345-7347)acC>acA	p.T2449T	USH2A_ENST00000366943.2_Silent_p.T2449T|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2449	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCTGAAGACTGGTTGGAGTGG	0.512										HNSCC(13;0.011)																																							0													108	107	107					1																	216074201		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7347C>A	1.37:g.216074201G>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2449	ENST00000307340.3	37	c.7347	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.512	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	59	0	G	NM_007123		216074201	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	33.33	48	24	SNP	1.000	T	T	216074201	G	T	216074201	2	4	13	1	0	0	0	0	0	0	0	1	17085	1335	47	3		3	USH2A	1	216074201	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8970504	216074201	33176420	60	3606											
USH2A	7399	genome.wustl.edu	37	chr1	216373122	216373122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgctagtacacgcctgtaCagaaaaatcgtacttggcaa	13	8	8	12	3	0	1	0	0	0	1	1	1	0	1	2	1	3	5	2	1	7	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:216373122C>G	ENST00000307340.3	-	17	4044	c.3658G>C	c.(3658-3660)Gta>Cta	p.V1220L	USH2A_ENST00000366943.2_Missense_Mutation_p.V1220L|USH2A_ENST00000366942.3_Missense_Mutation_p.V1220L|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1220	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACGCCTGTACAGAAAAATCG	0.517										HNSCC(13;0.011)																																							0													82	84	83					1																	216373122		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3658G>C	1.37:g.216373122C>G	ENSP00000305941:p.Val1220Leu		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V1220L	ENST00000307340.3	37	c.3658	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467612	0.26335	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.72282	-0.64;-0.64;-0.64	5.87	4.91	0.64330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40385	N	0.001113	T	0.60143	0.2246	L	0.33189	0.99	0.36942	D	0.892448	B;B	0.20261	0.043;0.031	B;B	0.23574	0.023;0.047	T	0.57046	-0.7878	10	0.12766	T	0.61	.	16.8437	0.85975	0.0:0.8718:0.1282:0.0	.	1220;1220	O75445-2;O75445	.;USH2A_HUMAN	L	1220	ENSP00000305941:V1220L;ENSP00000355910:V1220L;ENSP00000355909:V1220L	ENSP00000305941:V1220L	V	-	1	0	USH2A	214439745	1.000000	0.71417	0.897000	0.35233	0.660000	0.38997	1.315000	0.33608	2.941000	0.99782	0.655000	0.94253	GTA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.517	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	101	0	C	NM_007123		216373122	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	12.50	63	9	SNP	0.999	G	G	216373122	C	G	216373122	3	3	13	1	0	0	0	0	1	0	0	0	17085	478	17	5	12188	5	USH2A	1	216373122	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	298921	216373122	32877499	61	3607											
MOSC2	54996	genome.wustl.edu	37	chr1	220953534	220953534	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgacaacggtggacccAgacactggagtcatagacag	13	8	11	9	1	1	3	1	1	0	2	1	5	1	5	1	3	1	0	1	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:220953534A>G	ENST00000366913.3	+	6	1035	c.837A>G	c.(835-837)ccA>ccG	p.P279P	MARC2_ENST00000472447.1_3'UTR|MARC2_ENST00000359316.2_Intron	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	279	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CGGTGGACCCAGACACTGGAG	0.483																																																	0													169	175	173					1																	220953534		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"MOCO sulphurase C-terminal domain containing 2"	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.837A>G	1.37:g.220953534A>G			B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom	p.P279	ENST00000366913.3	37	c.837	CCDS1525.1	1																																																																																			MARC2	-	pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom	ENSG00000117791		0.483	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARC2	HGNC	protein_coding	OTTHUMT00000090911.1		0	93	0	A	NM_017898		220953534	1			no_errors	ENST00000366913	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.917	G	G	220953534	A	G	220953534	2	3	13	1	0	0	0	0	0	0	0	1	9752	175	7	4		4	MOSC2	1	220953534	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4580412	220953534	28297087	62	3608											
MIA3	375056	genome.wustl.edu	37	chr1	222803001	222803001	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacaatggtggaaaaagaAcgccctctggcagataagaa	18	6	10	7	1	1	3	0	0	1	3	1	4	1	4	1	3	2	1	1	3	8	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:222803001A>C	ENST00000344922.5	+	4	2464	c.2439A>C	c.(2437-2439)gaA>gaC	p.E813D	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E813D	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	813					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGAAAAAGAACGCCCTCTGG	0.418																																																	0													47	46	46					1																	222803001		1881	4100	5981	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2439A>C	1.37:g.222803001A>C	ENSP00000340900:p.Glu813Asp		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E813D	ENST00000344922.5	37	c.2439	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.80|13.80	2.344081|2.344081	0.41498|0.41498	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05925|.	3.37;3.37|.	5.08|5.08	-3.07|-3.07	0.05363|0.05363	.|.	.|.	.|.	.|.	.|.	T|T	0.40145|0.40145	0.1105|0.1105	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	B;B|.	0.29716|.	0.192;0.255|.	B;B|.	0.26614|.	0.063;0.071|.	T|T	0.45026|0.45026	-0.9289|-0.9289	9|5	0.48119|.	T|.	0.1|.	.|.	8.8838|8.8838	0.35392|0.35392	0.4289:0.1131:0.458:0.0|0.4289:0.1131:0.458:0.0	.|.	813;813|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	D|P	813|396	ENSP00000340900:E813D;ENSP00000340587:E813D|.	ENSP00000325973:E813D|.	E|T	+|+	3|1	2|0	MIA3|MIA3	220869624|220869624	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	0.096000|0.096000	0.15147|0.15147	-0.496000|-0.496000	0.06650|0.06650	0.379000|0.379000	0.24179|0.24179	GAA|ACG	MIA3	-	NULL	ENSG00000154305		0.418	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0	54	0	A	NM_198551		222803001	1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.000	C	C	222803001	A	C	222803001	3	2	13	1	0	0	0	0	1	0	0	0	9603	40	2	4	2453	4	MIA3	1	222803001	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1849467	222803001	26447620	63	3609											
CAPN2	824	genome.wustl.edu	37	chr1	223949290	223949290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctatttccagagctgtcGatgatgaaatcgaggccaat	11	12	9	9	2	1	3	0	2	1	1	4	5	2	3	2	1	1	1	2	1	3	3	rs369320951		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:223949290G>T	ENST00000295006.5	+	13	1846	c.1537G>T	c.(1537-1539)Gat>Tat	p.D513Y	CAPN2_ENST00000433674.2_Missense_Mutation_p.D435Y|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	513	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)	p.D513N(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CAGAGCTGTCGATGATGAAAT	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											122	113	116					1																	223949290		2203	4300	6503	SO:0001583	missense	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"EF-hand domain containing"	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1537G>T	1.37:g.223949290G>T	ENSP00000295006:p.Asp513Tyr		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D513Y	ENST00000295006.5	37	c.1537	CCDS31035.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039242	0.75617	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.89552	-2.53;-2.53	4.91	4.91	0.64330	Peptidase C2, calpain, large subunit, domain III (1);	0.130940	0.56097	D	0.000031	D	0.93223	0.7841	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.994	D;D;P	0.70487	0.938;0.969;0.891	D	0.93949	0.7230	10	0.87932	D	0	.	18.4709	0.90774	0.0:0.0:1.0:0.0	.	435;96;513	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	Y	435;513;542	ENSP00000413158:D435Y;ENSP00000295006:D513Y	ENSP00000295006:D513Y	D	+	1	0	CAPN2	222015913	1.000000	0.71417	0.722000	0.30670	0.879000	0.50718	7.161000	0.77505	2.439000	0.82584	0.655000	0.94253	GAT	CAPN2	-	superfamily_Calpain_domain_III	ENSG00000162909		0.433	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1		0	75	0	G	NM_001748		223949290	1			no_errors	ENST00000295006	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.997	T	T	223949290	G	T	223949290	3	4	13	1	0	0	0	0	1	0	0	0	2634	1058	37	2	1594	2	CAPN2	1	223949290	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1146289	223949290	25301331	64	3610											
ARV1	64801	genome.wustl.edu	37	chr1	231124166	231124166	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggcctacagacatattcTtttcaatactcaaataaatg	15	13	4	9	0	4	1	3	0	1	1	4	1	4	1	1	1	2	0	1	1	7	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:231124166T>G	ENST00000310256.2	+	2	332	c.275T>G	c.(274-276)cTt>cGt	p.L92R	ARV1_ENST00000366658.2_Intron|ARV1_ENST00000497753.1_3'UTR|AL844165.1_ENST00000516322.1_RNA	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	92					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AGACATATTCTTTTCAATACT	0.274																																																	0													111	119	117					1																	231124166		2203	4296	6499	SO:0001583	missense	0			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"ARV1 homolog (yeast)"			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.275T>G	1.37:g.231124166T>G	ENSP00000312458:p.Leu92Arg		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	pfam_Arv1	p.L92R	ENST00000310256.2	37	c.275	CCDS1589.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.86|16.86	3.238014|3.238014	0.58886|0.58886	.|.	.|.	ENSG00000173409|ENSG00000173409	ENST00000450711;ENST00000435927|ENST00000310256	.|T	.|0.53857	.|0.6	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76905|0.76905	0.4053|0.4053	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.69479	.|0.964	T|T	0.81686|0.81686	-0.0820|-0.0820	5|10	.|0.87932	.|D	.|0	-9.7304|-9.7304	16.5582|16.5582	0.84512|0.84512	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|92	.|Q9H2C2	.|ARV1_HUMAN	V|R	89;79|92	.|ENSP00000312458:L92R	.|ENSP00000312458:L92R	F|L	+|+	1|2	0|0	ARV1|ARV1	229190789|229190789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.262000|0.262000	0.26303|0.26303	7.468000|7.468000	0.80943|0.80943	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	TTT|CTT	ARV1	-	pfam_Arv1	ENSG00000173409		0.274	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2	-	0	36	0	T	NM_022786		231124166	1	tier1	-	no_errors	ENST00000310256	ensembl	human	known	74_37	missense	17.24	48	10	SNP	1.000	G	G	231124166	T	G	231124166	3	3	13	1	0	0	0	0	1	0	0	0	1003	1609	56	4	281	4	ARV1	1	231124166	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	7174876	231124166	18126455	65	3611											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232650209	232650209	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaacagttcgaagctttcGgaagagagatgtttccaccg	11	12	10	8	3	0	2	0	0	0	2	3	5	1	3	2	1	2	3	2	1	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:232650209G>A	ENST00000366630.1	-	2	1235	c.877C>T	c.(877-879)Cga>Tga	p.R293*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R293*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	293					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGAAGCTTTCGGAAGAGAGAT	0.498																																																	0													71	73	72					1																	232650209		1905	4117	6022	SO:0001587	stop_gained	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.877C>T	1.37:g.232650209G>A	ENSP00000355589:p.Arg293*		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R293*	ENST00000366630.1	37	c.877	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.612104	0.98884	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.54	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8356	13.4133	0.60954	0.0:0.0:0.4114:0.5886	.	.	.	.	X	293	.	ENSP00000262861:R293X	R	-	1	2	SIPA1L2	230716832	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	2.482000	0.45224	0.846000	0.35142	-0.188000	0.12872	CGA	SIPA1L2	-	NULL	ENSG00000116991		0.498	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0	35	0	G	XM_045839		232650209	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	nonsense	21.21	26	7	SNP	0.977	A	A	232650209	G	A	232650209	4	1	13	1	0	0	0	0	0	1	0	0	14375	1124	39	1	4375	1	SIPA1L2	1	232650209	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1526043	232650209	16600412	66	3612											
RYR2	6262	genome.wustl.edu	37	chr1	237794767	237794767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttaccagcaccctaatCtcatgagggcactggggatg	9	11	11	10	0	1	1	1	1	1	0	2	2	1	2	2	3	2	3	2	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:237794767C>A	ENST00000366574.2	+	42	6798	c.6481C>A	c.(6481-6483)Ctc>Atc	p.L2161I	RYR2_ENST00000360064.6_Missense_Mutation_p.L2159I|RYR2_ENST00000542537.1_Missense_Mutation_p.L2145I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2161	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACCCTAATCTCATGAGGGC	0.453																																																	0													102	105	104					1																	237794767		2004	4218	6222	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6481C>A	1.37:g.237794767C>A	ENSP00000355533:p.Leu2161Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L2159I	ENST00000366574.2	37	c.6475	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684574	0.88639	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99369	-5.78;-5.78;-5.78	5.43	5.43	0.79202	Intracellular calcium-release channel (1);	0.000000	0.53938	D	0.000044	D	0.99405	0.9790	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99301	1.0901	10	0.87932	D	0	-11.3018	19.6027	0.95569	0.0:1.0:0.0:0.0	.	2161	Q92736	RYR2_HUMAN	I	2161;2159;2145	ENSP00000355533:L2161I;ENSP00000353174:L2159I;ENSP00000443798:L2145I	ENSP00000353174:L2159I	L	+	1	0	RYR2	235861390	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.720000	0.47252	2.703000	0.92315	0.650000	0.86243	CTC	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.453	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	102	0	C	NM_001035		237794767	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	31.33	57	26	SNP	1.000	A	A	237794767	C	A	237794767	3	1	13	1	0	0	0	0	1	0	0	0	13814	913	32	3	6647	3	RYR2	1	237794767	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	5144558	237794767	11455854	67	3613											
OR2M2	391194	genome.wustl.edu	37	chr1	248344067	248344067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagctttgttcatgtacatAcggcccacatctgatcactc	9	12	7	13	1	3	1	2	1	1	0	4	1	3	1	1	1	3	4	1	1	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:248344067A>G	ENST00000359682.2	+	1	780	c.780A>G	c.(778-780)atA>atG	p.I260M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATGTACATACGGCCCACAT	0.517																																																	0													225	200	209					1																	248344067		2203	4300	6503	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.780A>G	1.37:g.248344067A>G	ENSP00000352710:p.Ile260Met		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I260M	ENST00000359682.2	37	c.780	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.219775	0.00024	.	.	ENSG00000198601	ENST00000359682	T	0.38722	1.12	2.03	-4.06	0.03986	GPCR, rhodopsin-like superfamily (1);	0.434403	0.16686	N	0.203754	T	0.08935	0.0221	N	0.01086	-1.025	0.09310	N	1	B	0.15930	0.015	B	0.12156	0.007	T	0.17319	-1.0373	10	0.02654	T	1	.	3.9931	0.09546	0.3743:0.0:0.3683:0.2574	.	260	Q96R28	OR2M2_HUMAN	M	260	ENSP00000352710:I260M	ENSP00000352710:I260M	I	+	3	3	OR2M2	246410690	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.409000	0.00481	-1.701000	0.01413	-3.304000	0.00045	ATA	OR2M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198601		0.517	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0	120	0	A	NM_001004688		248344067	1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	14.16	97	16	SNP	0.000	G	G	248344067	A	G	248344067	3	3	13	1	0	0	0	0	1	0	0	0	11049	381	14	4	782	4	OR2M2	1	248344067	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	10549300	248344067	906554	68	3614											
OR2T4	127074	genome.wustl.edu	37	chr1	248525601	248525601	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgtcctcatgctccTcatccctgtggtgatcattt	4	16	9	12	0	3	1	3	1	0	0	6	1	6	1	3	1	2	2	3	1	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr1:248525601T>A	ENST00000366475.1	+	1	719	c.719T>A	c.(718-720)cTc>cAc	p.L240H		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCATGCTCCTCATCCCTGTG	0.483																																																	0													159	151	154					1																	248525601		2203	4300	6503	SO:0001583	missense	0			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.719T>A	1.37:g.248525601T>A	ENSP00000355431:p.Leu240His		Q6IEZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L240H	ENST00000366475.1	37	c.719	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903794	0.33628	.	.	ENSG00000196944	ENST00000366475	T	0.45276	0.9	3.09	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000848	T	0.70518	0.3233	H	0.96365	3.81	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61342	-0.7082	10	0.87932	D	0	.	8.8978	0.35476	0.0:0.0:0.1879:0.8121	.	240	Q8NH00	OR2T4_HUMAN	H	240	ENSP00000355431:L240H	ENSP00000355431:L240H	L	+	2	0	OR2T4	246592224	0.000000	0.05858	0.543000	0.28128	0.332000	0.28634	0.417000	0.21214	1.264000	0.44198	0.477000	0.44152	CTC	OR2T4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196944		0.483	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	HGNC	protein_coding	OTTHUMT00000097349.2	-	0	170	0	T	NM_001004696		248525601	1	tier1	-	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	42.98	69	52	SNP	0.082	A	A	248525601	T	A	248525601	3	1	13	1	0	0	0	0	1	0	0	0	11066	1551	54	5	721	5	OR2T4	1	248525601	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	181534	248525601	725020	69	3615											
NBAS	51594	genome.wustl.edu	37	chr2	15615819	15615819	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaagccttacctccaaacTtaaaaatcccccatcatggg	16	8	4	13	0	1	0	1	0	0	0	3	0	3	0	5	1	3	0	5	1	7	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:15615819T>A	ENST00000281513.5	-	14	1358	c.1333A>T	c.(1333-1335)Agt>Tgt	p.S445C	NBAS_ENST00000441750.1_Missense_Mutation_p.S445C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	445					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTCCAAACTTAAAAATCCC	0.323																																																	0													68	69	68					2																	15615819		2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1333A>T	2.37:g.15615819T>A	ENSP00000281513:p.Ser445Cys		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.S445C	ENST00000281513.5	37	c.1333	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500355	0.44455	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.09911	2.93;3.08	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.18425	0.0442	L	0.27053	0.805	0.27683	N	0.946389	D	0.69078	0.997	P	0.57371	0.819	T	0.02698	-1.1122	10	0.87932	D	0	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	445	A2RRP1	NBAS_HUMAN	C	445	ENSP00000413201:S445C;ENSP00000281513:S445C	ENSP00000281513:S445C	S	-	1	0	NBAS	15533270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	2.239000	0.73571	0.459000	0.35465	AGT	NBAS	-	NULL	ENSG00000151779		0.323	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0	113	0	T	NM_015909		15615819	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	20.25	63	16	SNP	1.000	A	A	15615819	T	A	15615819	3	1	13	1	0	0	0	0	1	0	0	0	10224	1609	56	5	5938	5	NBAS	2	15615819	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09		15615819	227583554	70	3616											
KCNS3	3790	genome.wustl.edu	37	chr2	18112861	18112861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctccttgagcgtggtgCtggcctccatcgtggccatg	3	12	12	14	2	1	1	0	1	1	0	5	1	3	1	5	3	2	1	5	3	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:18112861C>A	ENST00000403915.1	+	3	1037	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.L196M	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	196					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCGTGGTGCTGGCCTCCAT	0.542																																																	0													69	67	68					2																	18112861		2203	4300	6503	SO:0001583	missense	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.586C>A	2.37:g.18112861C>A	ENSP00000385968:p.Leu196Met		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.L196M	ENST00000403915.1	37	c.586	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472748	0.43942	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98090	-4.71;-4.71	5.88	4.83	0.62350	.	0.076953	0.53938	D	0.000051	D	0.98277	0.9429	M	0.81802	2.56	0.46396	D	0.99902	D	0.76494	0.999	D	0.64237	0.923	D	0.97945	1.0328	10	0.59425	D	0.04	.	12.2954	0.54842	0.0:0.8569:0.0:0.1431	.	196	Q9BQ31	KCNS3_HUMAN	M	196	ENSP00000385968:L196M;ENSP00000305824:L196M	ENSP00000305824:L196M	L	+	1	2	KCNS3	17976342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.962000	0.40442	2.782000	0.95742	0.655000	0.94253	CTG	KCNS3	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv9	ENSG00000170745		0.542	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	-	0	42	0	C	NM_002252		18112861	1	tier1	-	no_errors	ENST00000304101	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	A	A	18112861	C	A	18112861	3	1	13	1	0	0	0	0	1	0	0	0	8117	796	28	3	588	3	KCNS3	2	18112861	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2497042	18112861	225086512	71	3617											
CRIM1	51232	genome.wustl.edu	37	chr2	36706789	36706789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccgtctgcggacagaccTgcacaaaccctgtgaaagtg	11	6	11	13	3	1	2	0	1	1	1	1	4	1	3	3	1	3	1	3	1	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:36706789T>C	ENST00000280527.2	+	7	1691	c.1324T>C	c.(1324-1326)Tgc>Cgc	p.C442R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	442	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGGACAGACCTGCACAAACCC	0.567																																																	0													137	133	135					2																	36706789		2203	4300	6503	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1324T>C	2.37:g.36706789T>C	ENSP00000280527:p.Cys442Arg		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.C442R	ENST00000280527.2	37	c.1324	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596827	0.86953	.	.	ENSG00000150938	ENST00000280527	D	0.92149	-2.98	5.35	5.35	0.76521	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98498	1.0613	10	0.52906	T	0.07	-13.0182	14.8167	0.70039	0.0:0.0:0.0:1.0	.	442	Q9NZV1	CRIM1_HUMAN	R	442	ENSP00000280527:C442R	ENSP00000280527:C442R	C	+	1	0	CRIM1	36560293	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.997000	0.88414	2.155000	0.67459	0.533000	0.62120	TGC	CRIM1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000150938		0.567	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2		0	89	0	T	NM_016441		36706789	1			no_errors	ENST00000280527	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	C	C	36706789	T	C	36706789	3	2	13	1	0	0	0	0	1	0	0	0	3880	1580	55	4	1350	4	CRIM1	2	36706789	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	18593928	36706789	206492584	72	3618											
HEATR5B	54497	genome.wustl.edu	37	chr2	37295884	37295884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcagctgcaatctgggCtttttcacctagcaaactgc	8	13	9	11	0	2	0	1	0	1	0	2	0	2	0	1	2	5	5	1	2	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:37295884C>A	ENST00000233099.5	-	8	1212	c.1117G>T	c.(1117-1119)Gcc>Tcc	p.A373S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A373S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	373						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAATCTGGGCTTTTTCACCT	0.443																																																	0													73	72	72					2																	37295884		2203	4300	6503	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1117G>T	2.37:g.37295884C>A	ENSP00000233099:p.Ala373Ser		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A373S	ENST00000233099.5	37	c.1117	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.363463	0.95877	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.07908	3.15;3.15	5.67	5.67	0.87782	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27027	0.0662	M	0.79693	2.465	0.80722	D	1	D	0.59357	0.985	P	0.57846	0.828	T	0.03384	-1.1042	10	0.18276	T	0.48	-12.1035	19.7635	0.96333	0.0:1.0:0.0:0.0	.	373	Q9P2D3	HTR5B_HUMAN	S	373	ENSP00000233099:A373S;ENSP00000346531:A373S	ENSP00000233099:A373S	A	-	1	0	HEATR5B	37149388	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.669000	0.90835	0.655000	0.94253	GCC	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.443	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0	75	0	C	NM_019024		37295884	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	20.93	67	18	SNP	1.000	A	A	37295884	C	A	37295884	3	1	13	1	0	0	0	0	1	0	0	0	7059	797	28	3	5214	3	HEATR5B	2	37295884	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	589095	37295884	205903489	73	3619											
SULT6B1	391365	genome.wustl.edu	37	chr2	37410582	37410582	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccttggctttattctCgaagatagacccaggtaatt	11	13	7	10	1	2	2	1	0	1	2	3	3	2	2	2	2	0	2	2	2	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:37410582C>A	ENST00000535679.1	-	3	387	c.388G>T	c.(388-390)Gag>Tag	p.E130*	SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.E92*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.E92*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	130						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				GCTTTATTCTCGAAGATAGAC	0.353																																																	0													121	120	120					2																	37410582		2203	4300	6503	SO:0001587	stop_gained	0			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"Sulfotransferases, cytosolic"	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.388G>T	2.37:g.37410582C>A	ENSP00000444081:p.Glu130*		B2RTS7	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E130*	ENST00000535679.1	37	c.388		2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.057955	0.76074	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	.	.	.	4.73	-0.489	0.12052	.	0.926428	0.09255	N	0.827297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	11.1871	0.48664	0.0:0.4906:0.0:0.5094	.	.	.	.	X	130;92;92	.	ENSP00000260637:E92X	E	-	1	0	SULT6B1	37264086	0.580000	0.26733	0.874000	0.34290	0.961000	0.63080	-0.449000	0.06812	-0.543000	0.06240	-1.208000	0.01637	GAG	SULT6B1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000138068		0.353	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		-	0	37	0	C	NM_001032377		37410582	-1	tier1	-	no_errors	ENST00000535679	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.676	A	A	37410582	C	A	37410582	4	1	13	1	0	0	0	0	0	1	0	0	15431	893	31	2	543	2	SULT6B1	2	37410582	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	114698	37410582	205788791	74	3620											
C2orf61	285051	genome.wustl.edu	37	chr2	47314215	47314215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcccattttggctatggtcgGagactgcttagggaattgtc	7	13	13	8	1	0	1	0	0	0	1	2	3	0	2	1	4	1	2	1	4	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:47314215G>C	ENST00000445927.2	-	7	805	c.679C>G	c.(679-681)Ccg>Gcg	p.P227A	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000464527.2_Intron	NM_001163561.1	NP_001157033.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	227										endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GCTATGGTCGGAGACTGCTTA	0.428																																																	0													301	249	264					2																	47314215		692	1591	2283	SO:0001583	missense	0			AK097491	CCDS1831.1, CCDS54356.1	2p21	2008-02-05			ENSG00000239605	ENSG00000239605			26850	protein-coding gene	gene with protein product							Standard	NM_173649		Approved	FLJ40172	uc010yog.2	Q8N801	OTTHUMG00000128851	ENST00000445927.2:c.679C>G	2.37:g.47314215G>C	ENSP00000408527:p.Pro227Ala		H7C2Z2	Missense_Mutation	SNP	NULL	p.P227A	ENST00000445927.2	37	c.679	CCDS54356.1	2	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898394	0.02472	.	.	ENSG00000239605	ENST00000445927	T	0.30714	1.52	5.39	1.53	0.23141	.	.	.	.	.	T	0.14960	0.0361	N	0.19112	0.55	0.09310	N	1	.	.	.	.	.	.	T	0.32981	-0.9886	7	0.08837	T	0.75	.	5.4798	0.16717	0.1815:0.3479:0.4706:0.0	.	.	.	.	A	227	ENSP00000408527:P227A	ENSP00000408527:P227A	P	-	1	0	C2orf61	47167719	0.012000	0.17670	0.000000	0.03702	0.055000	0.15305	1.112000	0.31172	0.097000	0.17492	-0.119000	0.15052	CCG	C2orf61	-	NULL	ENSG00000239605		0.428	C2orf61-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf61	HGNC	protein_coding		-	0	45	0	G	NM_173649		47314215	-1	tier1	-	no_errors	ENST00000445927	ensembl	human	known	74_37	missense	11.43	62	8	SNP	0.000	C	C	47314215	G	C	47314215	3	2	13	1	0	0	0	0	1	0	0	0	2187	1174	41	5	71	5	C2orf61	2	47314215	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	9903633	47314215	195885158	75	3621											
NRXN1	9378	genome.wustl.edu	37	chr2	50779946	50779946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaataagatgaggccatttGgctctgttgtacggaaatca	13	12	10	6	1	2	2	1	1	1	1	2	3	2	3	1	3	1	3	1	3	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:50779946G>C	ENST00000406316.2	-	9	3014	c.1538C>G	c.(1537-1539)cCa>cGa	p.P513R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.P513R|NRXN1_ENST00000402717.3_Missense_Mutation_p.P505R|NRXN1_ENST00000405472.3_Missense_Mutation_p.P505R|NRXN1_ENST00000406859.3_Missense_Mutation_p.P513R|NRXN1_ENST00000404971.1_Missense_Mutation_p.P553R	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	513	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAGGCCATTTGGCTCTGTTGT	0.428																																																	0													161	149	153					2																	50779946		1893	4110	6003	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1538C>G	2.37:g.50779946G>C	ENSP00000384311:p.Pro513Arg		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.P505R	ENST00000406316.2	37	c.1514	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696317	0.88830	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.87505	0.6194	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.86408	0.1746	10	0.52906	T	0.07	.	20.33	0.98713	0.0:0.0:1.0:0.0	.	553;513;505	Q9ULB1-3;F8WB18;A7E294	.;.;.	R	553;513;505;513;554;505;513	ENSP00000385142:P553R;ENSP00000384311:P513R;ENSP00000434015:P505R;ENSP00000385017:P513R;ENSP00000385434:P505R;ENSP00000385681:P513R	ENSP00000385017:P513R	P	-	2	0	NRXN1	50633450	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.810000	0.96702	0.585000	0.79938	CCA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.428	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	46	0	G			50779946	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C	C	50779946	G	C	50779946	3	2	13	1	0	0	0	0	1	0	0	0	10704	1348	47	5	3308	5	NRXN1	2	50779946	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3465731	50779946	192419427	76	3622											
REL	5966	genome.wustl.edu	37	chr2	61149328	61149328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaccagcagtgacagcatGggagagactgataatccaag	16	5	11	9	0	0	3	0	2	0	1	1	5	1	4	2	1	3	2	2	1	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:61149328G>T	ENST00000295025.8	+	11	1838	c.1518G>T	c.(1516-1518)atG>atT	p.M506I	REL_ENST00000394479.3_Missense_Mutation_p.M474I	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	506					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GTGACAGCATGGGAGAGACTG	0.423			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													120	114	116					2																	61149328		2203	4300	6503	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1518G>T	2.37:g.61149328G>T	ENSP00000295025:p.Met506Ile		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.M506I	ENST00000295025.8	37	c.1518	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948334	0.18356	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.48522	0.81;0.89	5.54	2.59	0.31030	.	0.427303	0.24985	N	0.034030	T	0.30665	0.0772	L	0.32530	0.975	0.26438	N	0.975822	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.14643	-1.0465	10	0.20046	T	0.44	-9.0909	6.7716	0.23596	0.0822:0.0:0.6045:0.3133	.	474;506	Q17RU2;Q04864	.;REL_HUMAN	I	506;474	ENSP00000295025:M506I;ENSP00000377989:M474I	ENSP00000295025:M506I	M	+	3	0	REL	61002832	1.000000	0.71417	0.492000	0.27490	0.800000	0.45204	1.389000	0.34453	0.702000	0.31825	-0.188000	0.12872	ATG	REL	-	NULL	ENSG00000162924		0.423	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	-	0	36	0	G	NM_002908		61149328	1	tier1	-	no_errors	ENST00000295025	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.932	T	T	61149328	G	T	61149328	3	4	13	1	0	0	0	0	1	0	0	0	13260	1348	47	3	1560	3	REL	2	61149328	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	10369382	61149328	182050045	77	3623											
REL	5966	genome.wustl.edu	37	chr2	61149587	61149587	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacagtcatggttttgttCaagatagtcagtattcaggt	12	14	9	6	0	4	1	4	0	0	1	4	1	4	1	0	2	1	3	0	2	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:61149587C>T	ENST00000295025.8	+	11	2097	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	REL_ENST00000394479.3_Nonsense_Mutation_p.Q561*	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	593					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TGGTTTTGTTCAAGATAGTCA	0.363			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													70	66	67					2																	61149587		2203	4300	6503	SO:0001587	stop_gained	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1777C>T	2.37:g.61149587C>T	ENSP00000295025:p.Gln593*		Q17RU2|Q2PNZ7|Q6LDY0	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.Q593*	ENST00000295025.8	37	c.1777	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740894	0.89573	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	.	.	.	5.74	5.74	0.90152	.	1.077630	0.07082	N	0.837188	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-54.1383	16.6519	0.85218	0.0:1.0:0.0:0.0	.	.	.	.	X	593;561	.	ENSP00000295025:Q593X	Q	+	1	0	REL	61003091	0.750000	0.28316	0.918000	0.36340	0.396000	0.30629	1.266000	0.33039	2.720000	0.93068	0.650000	0.86243	CAA	REL	-	NULL	ENSG00000162924		0.363	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3		0	69	0	C	NM_002908		61149587	1			no_errors	ENST00000295025	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	0.400	T	T	61149587	C	T	61149587	4	4	13	1	0	0	0	0	0	1	0	0	13260	827	29	3	1819	3	REL	2	61149587	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	259	61149587	182049786	78	3624											
AFTPH	54812	genome.wustl.edu	37	chr2	64796810	64796810	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatgtatgcagcaggAttggtaagtacaaaaatctc	13	10	10	8	0	1	0	0	0	1	0	2	1	1	1	1	2	4	5	1	2	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:64796810A>G	ENST00000422803.1	+	5	2582	c.2268A>G	c.(2266-2268)ggA>ggG	p.G756G	AFTPH_ENST00000238856.4_Silent_p.G756G|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409933.1_Silent_p.G756G|AFTPH_ENST00000409183.1_Silent_p.G387G|AFTPH_ENST00000238855.7_Silent_p.G756G			Q6ULP2	AFTIN_HUMAN	aftiphilin	756					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATGCAGCAGGATTGGTAAGTA	0.348																																																	0													159	159	159					2																	64796810		2203	4300	6503	SO:0001819	synonymous_variant	0			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2268A>G	2.37:g.64796810A>G			D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Silent	SNP	NULL	p.G756	ENST00000422803.1	37	c.2268		2																																																																																			AFTPH	-	NULL	ENSG00000119844		0.348	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding		-	0	51	0	A	NM_017657		64796810	1	tier1	-	no_errors	ENST00000422803	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	G	G	64796810	A	G	64796810	2	3	13	1	0	0	0	0	0	0	0	1	364	320	12	4		4	AFTPH	2	64796810	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3647223	64796810	178402563	79	3625											
BMP10	27302	genome.wustl.edu	37	chr2	69093425	69093425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaacgtctgatggcatCtgtgacatcaaaagtctccc	10	11	8	12	1	4	2	1	2	3	0	5	2	4	2	2	1	2	1	2	1	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:69093425C>A	ENST00000295379.1	-	2	771	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	205					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTGATGGCATCTGTGACATCA	0.512																																																	0													147	124	132					2																	69093425		2203	4300	6503	SO:0001583	missense	0			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.613G>T	2.37:g.69093425C>A	ENSP00000295379:p.Asp205Tyr		Q53R17|Q6NTE0	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.D205Y	ENST00000295379.1	37	c.613	CCDS1890.1	2	.	.	.	.	.	.	.	.	.	.	C	9.248	1.039983	0.19669	.	.	ENSG00000163217	ENST00000295379	T	0.66280	-0.2	5.97	3.07	0.35406	Transforming growth factor-beta, N-terminal (1);	0.419200	0.29876	N	0.010961	T	0.47432	0.1445	L	0.36672	1.1	0.30552	N	0.765399	P	0.39071	0.658	B	0.34489	0.184	T	0.50783	-0.8787	10	0.59425	D	0.04	.	9.3026	0.37856	0.0:0.777:0.1205:0.1024	.	205	O95393	BMP10_HUMAN	Y	205	ENSP00000295379:D205Y	ENSP00000295379:D205Y	D	-	1	0	BMP10	68946929	0.702000	0.27816	0.866000	0.34008	0.446000	0.32137	1.537000	0.36083	0.347000	0.23924	-0.165000	0.13383	GAT	BMP10	-	pfam_TGF-b_N	ENSG00000163217		0.512	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	HGNC	protein_coding	OTTHUMT00000251768.1	-	0	59	0	C	NM_014482		69093425	-1	tier1	-	no_errors	ENST00000295379	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.798	A	A	69093425	C	A	69093425	3	1	13	1	0	0	0	0	1	0	0	0	1459	913	32	3	665	3	BMP10	2	69093425	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4296615	69093425	174105948	80	3626											
CNNM4	26504	genome.wustl.edu	37	chr2	97462821	97462821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccttctacgaggtcctggGcctggtcaccctggaggacg	5	8	13	15	2	2	0	1	0	1	0	3	3	3	2	5	5	1	0	5	5	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:97462821G>T	ENST00000377075.2	+	2	1573	c.1475G>T	c.(1474-1476)gGc>gTc	p.G492V	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_5'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	492	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GAGGTCCTGGGCCTGGTCACC	0.582																																																	0													85	64	71					2																	97462821		2203	4300	6503	SO:0001583	missense	0			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"cyclin M4"	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1475G>T	2.37:g.97462821G>T	ENSP00000366275:p.Gly492Val		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.G492V	ENST00000377075.2	37	c.1475	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567180	0.86439	.	.	ENSG00000158158	ENST00000377075	D	0.99594	-6.25	5.1	4.2	0.49525	Cystathionine beta-synthase, core (2);	0.056988	0.64402	N	0.000001	D	0.99813	0.9918	H	0.99074	4.42	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.96755	0.9557	10	0.87932	D	0	-7.8253	13.9847	0.64326	0.0:0.0:0.8467:0.1533	.	492	Q6P4Q7	CNNM4_HUMAN	V	492	ENSP00000366275:G492V	ENSP00000366275:G492V	G	+	2	0	CNNM4	96826548	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	1.253000	0.44018	0.557000	0.71058	GGC	CNNM4	-	pfam_CBS_dom	ENSG00000158158		0.582	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1		0	89	0	G	NM_020184		97462821	1			no_errors	ENST00000377075	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	97462821	G	T	97462821	3	4	13	1	0	0	0	0	1	0	0	0	3622	1203	42	3	1481	3	CNNM4	2	97462821	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	28369396	97462821	145736552	81	3627											
IL1RL1	9173	genome.wustl.edu	37	chr2	102959851	102959851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcttgagaaggcacaccGtaagactaagtaggaaaaat	17	7	11	6	1	0	2	0	1	0	2	0	4	0	3	1	3	0	4	1	3	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:102959851G>A	ENST00000233954.1	+	8	1217	c.946G>A	c.(946-948)Gta>Ata	p.V316I	IL1RL1_ENST00000404917.2_Missense_Mutation_p.V199I|IL1RL1_ENST00000311734.2_Missense_Mutation_p.V316I|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V302I	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	316	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AAGGCACACCGTAAGACTAAG	0.433																																																	0													171	160	164					2																	102959851		2203	4300	6503	SO:0001583	missense	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.946G>A	2.37:g.102959851G>A	ENSP00000233954:p.Val316Ile		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom	p.V316I	ENST00000233954.1	37	c.946	CCDS2057.1	2	.	.	.	.	.	.	.	.	.	.	G	5.361	0.251949	0.10185	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.19	-9.04	0.00734	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.145470	0.06185	N	0.680197	T	0.03434	0.0099	N	0.03224	-0.385	0.09310	N	0.999999	B;B;B	0.17667	0.023;0.017;0.006	B;B;B	0.12156	0.007;0.007;0.004	T	0.36529	-0.9744	10	0.10111	T	0.7	.	2.9918	0.05986	0.2561:0.2373:0.3907:0.116	.	199;316;316	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	I	316;199;316;302	ENSP00000233954:V316I;ENSP00000384822:V199I;ENSP00000310371:V316I;ENSP00000386618:V302I	ENSP00000233954:V316I	V	+	1	0	IL1RL1	102326283	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-3.152000	0.00581	-1.239000	0.02532	-0.324000	0.08512	GTA	IL1RL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000115602		0.433	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	-	0	41	0	G	NM_016232		102959851	1	tier1	-	no_errors	ENST00000233954	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.000	A	A	102959851	G	A	102959851	3	1	13	1	0	0	0	0	1	0	0	0	7690	1145	40	1	972	1	IL1RL1	2	102959851	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5497030	102959851	140239522	82	3628											
DPP10	57628	genome.wustl.edu	37	chr2	116510750	116510750	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttgtttccaaactagAgaatactatatcactatggt	14	16	5	6	0	1	1	1	0	0	1	2	2	2	1	1	1	2	1	1	1	8	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:116510750A>C	ENST00000410059.1	+	11	1431	c.951A>C	c.(949-951)agA>agC	p.R317S	DPP10_ENST00000310323.8_Splice_Site_p.R310S|DPP10_ENST00000409163.1_Splice_Site_p.R267S|DPP10_ENST00000393147.2_Splice_Site_p.R321S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	317						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCCAAACTAGAGAATACTATA	0.343																																																	0													77	70	72					2																	116510750		2203	4300	6503	SO:0001630	splice_region_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.951-1A>C	2.37:g.116510750A>C			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R321S	ENST00000410059.1	37	c.963	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273795	0.59649	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.1	3.95	0.45737	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.055041	0.64402	D	0.000001	T	0.35537	0.0935	N	0.21240	0.645	0.54753	D	0.999983	P;D;D;P	0.89917	0.897;1.0;0.968;0.916	B;D;P;P	0.83275	0.412;0.996;0.661;0.547	T	0.08493	-1.0719	9	.	.	.	.	7.5279	0.27666	0.8182:0.0:0.1818:0.0	.	310;321;313;317	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	317;267;321;310;267	ENSP00000386565:R317S;ENSP00000387038:R267S;ENSP00000376855:R321S;ENSP00000309066:R310S	.	R	+	3	2	DPP10	116227220	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.868000	0.39509	0.972000	0.38314	0.528000	0.53228	AGA	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.343	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	110	0	A	NM_020868	Missense_Mutation	116510750	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	51.65	44	47	SNP	1.000	C	C	116510750	A	C	116510750	5	2	13	1	0	0	0	0	0	0	1	0	4741	318	11	4	1164	4	DPP10	2	116510750	Splice_Site	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	13550899	116510750	126688623	83	3629											
DPP10	57628	genome.wustl.edu	37	chr2	116593762	116593762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctatattgcatcaatgatCttaaaatcagatgaaaagct	16	12	7	6	0	3	3	2	2	1	1	3	3	3	3	0	1	2	3	0	1	7	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:116593762C>G	ENST00000410059.1	+	22	2460	c.1980C>G	c.(1978-1980)atC>atG	p.I660M	DPP10_ENST00000310323.8_Missense_Mutation_p.I653M|DPP10_ENST00000409163.1_Missense_Mutation_p.I610M|DPP10_ENST00000393147.2_Missense_Mutation_p.I664M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	660						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATCAATGATCTTAAAATCAG	0.353																																																	0													83	80	81					2																	116593762		2203	4300	6503	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1980C>G	2.37:g.116593762C>G	ENSP00000386565:p.Ile660Met		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.I664M	ENST00000410059.1	37	c.1992	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268721	0.23136	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.67	3.85	0.44370	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.050418	0.85682	D	0.000000	T	0.21801	0.0525	L	0.31120	0.905	0.39483	D	0.967923	B;B;B;B	0.30793	0.13;0.208;0.295;0.157	B;B;B;B	0.32762	0.094;0.118;0.152;0.152	T	0.06607	-1.0817	10	0.38643	T	0.18	-25.866	8.3388	0.32230	0.3943:0.5355:0.0:0.0702	.	653;664;656;660	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	660;610;664;653	ENSP00000386565:I660M;ENSP00000387038:I610M;ENSP00000376855:I664M;ENSP00000309066:I653M	ENSP00000309066:I653M	I	+	3	3	DPP10	116310232	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	0.332000	0.19751	0.712000	0.32039	0.655000	0.94253	ATC	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4		0	68	0	C	NM_020868		116593762	1			no_errors	ENST00000393147	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	G	G	116593762	C	G	116593762	3	3	13	1	0	0	0	0	1	0	0	0	4741	903	32	5	2237	5	DPP10	2	116593762	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	83012	116593762	126605611	84	3630											
CCDC93	54520	genome.wustl.edu	37	chr2	118693100	118693100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgcttaattccttccaCaatctgttccatctgacgta	9	16	4	12	1	2	1	0	1	2	0	5	1	5	1	3	0	1	3	3	0	3	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:118693100C>A	ENST00000376300.2	-	22	1836	c.1699G>T	c.(1699-1701)Gtg>Ttg	p.V567L	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.V566L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	567										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATTCCTTCCACAATCTGTTCC	0.483																																																	0													103	98	100					2																	118693100		2203	4300	6503	SO:0001583	missense	0			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1699G>T	2.37:g.118693100C>A	ENSP00000365477:p.Val567Leu		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.V567L	ENST00000376300.2	37	c.1699	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551758	0.86127	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.65178	-0.14;-0.14	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	M	0.70595	2.14	0.58432	D	0.999999	P	0.36647	0.563	B	0.41036	0.346	T	0.64879	-0.6303	10	0.31617	T	0.26	-17.2489	17.9273	0.88987	0.0:1.0:0.0:0.0	.	567	Q567U6	CCD93_HUMAN	L	567;566	ENSP00000365477:V567L;ENSP00000324135:V566L	ENSP00000324135:V566L	V	-	1	0	CCDC93	118409570	1.000000	0.71417	0.971000	0.41717	0.887000	0.51463	7.108000	0.77055	2.678000	0.91216	0.563000	0.77884	GTG	CCDC93	-	NULL	ENSG00000125633		0.483	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	-	0	34	0	C	NM_019044		118693100	-1	tier1	-	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A	A	118693100	C	A	118693100	3	1	13	1	0	0	0	0	1	0	0	0	2879	478	17	3	208	3	CCDC93	2	118693100	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2099338	118693100	124506273	85	3631											
MAP3K2	10746	genome.wustl.edu	37	chr2	128075781	128075781	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcggggtcaaattgaacTtgcttaacagccaattctct	11	13	7	10	1	2	1	1	1	1	0	4	1	2	1	1	2	4	1	1	2	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:128075781T>G	ENST00000409947.1	-	13	1440	c.1158A>C	c.(1156-1158)caA>caC	p.Q386H	MAP3K2_ENST00000344908.5_Missense_Mutation_p.Q386H|RNU6-1147P_ENST00000363380.1_RNA			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	CAAATTGAACTTGCTTAACAG	0.393																																																	0													117	114	115					2																	128075781		1862	4091	5953	SO:0001583	missense	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1158A>C	2.37:g.128075781T>G	ENSP00000387246:p.Gln386His		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q386H	ENST00000409947.1	37	c.1158	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098432	0.76870	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.25085	1.82;1.82	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.101621	0.64402	D	0.000001	T	0.36138	0.0956	L	0.33339	1.005	0.54753	D	0.999983	P	0.44986	0.847	P	0.54706	0.759	T	0.10683	-1.0619	10	0.87932	D	0	.	16.0044	0.80349	0.0:0.0:0.0:1.0	.	386	Q9Y2U5	M3K2_HUMAN	H	386	ENSP00000387246:Q386H;ENSP00000343463:Q386H	ENSP00000343463:Q386H	Q	-	3	2	MAP3K2	127792251	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.658000	0.46733	2.175000	0.68902	0.477000	0.44152	CAA	MAP3K2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000169967		0.393	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	-	0	76	0	T	NM_006609		128075781	-1	tier1	-	no_errors	ENST00000344908	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	G	G	128075781	T	G	128075781	3	3	13	1	0	0	0	0	1	0	0	0	9288	1606	56	4	721	4	MAP3K2	2	128075781	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	9382681	128075781	115123592	86	3632											
LCT	3938	genome.wustl.edu	37	chr2	136581559	136581559	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaagatgaaaactttcacTtttggctcaatggtctgaaa	13	14	8	6	0	3	4	2	3	1	1	3	4	3	4	0	2	1	1	0	2	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:136581559T>G	ENST00000264162.2	-	4	829	c.819A>C	c.(817-819)aaA>aaC	p.K273N	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	273	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AAACTTTCACTTTTGGCTCAA	0.473																																																	0													106	102	104					2																	136581559		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.819A>C	2.37:g.136581559T>G	ENSP00000264162:p.Lys273Asn		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.K273N	ENST00000264162.2	37	c.819	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936539	0.34189	.	.	ENSG00000115850	ENST00000264162	T	0.29397	1.57	5.35	5.35	0.76521	.	0.307287	0.31566	N	0.007421	T	0.20740	0.0499	L	0.43152	1.355	0.35641	D	0.810966	P	0.35656	0.514	B	0.24269	0.052	T	0.22521	-1.0214	10	0.14252	T	0.57	-21.5526	11.6631	0.51358	0.0:0.0:0.0:1.0	.	273	P09848	LPH_HUMAN	N	273	ENSP00000264162:K273N	ENSP00000264162:K273N	K	-	3	2	LCT	136298029	0.914000	0.31030	0.998000	0.56505	0.910000	0.53928	0.543000	0.23237	2.250000	0.74265	0.454000	0.30748	AAA	LCT	-	NULL	ENSG00000115850		0.473	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	46	0	T	NM_002299		136581559	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	G	G	136581559	T	G	136581559	3	3	13	1	0	0	0	0	1	0	0	0	8721	1606	56	4	5020	4	LCT	2	136581559	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	8505778	136581559	106617814	87	3633											
LRP1B	53353	genome.wustl.edu	37	chr2	141986843	141986843	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagttgatttgaagattcTcttgattcaatccaacaaat	13	16	6	6	0	2	5	1	4	1	1	4	5	3	5	1	0	1	1	1	0	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:141986843T>C	ENST00000389484.3	-	6	1730	c.759A>G	c.(757-759)agA>agG	p.R253R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	253					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGAAGATTCTCTTGATTCAA	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													97	96	96					2																	141986843		2202	4298	6500	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.759A>G	2.37:g.141986843T>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R253	ENST00000389484.3	37	c.759	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	42	0	T	NM_018557		141986843	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	32.00	51	24	SNP	1.000	C	C	141986843	T	C	141986843	2	2	13	1	0	0	0	0	0	0	0	1	8990	1548	54	4		4	LRP1B	2	141986843	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	5405284	141986843	101212530	88	3634											
LRP1B	53353	genome.wustl.edu	37	chr2	142012179	142012179	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattgtacatttatactgAcaattcagctgttggcaatt	12	15	6	8	0	1	1	1	1	0	0	1	1	1	1	1	1	3	4	1	1	5	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:142012179A>G	ENST00000389484.3	-	4	1346	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	125	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTATACTGACAATTCAGCT	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													132	119	123					2																	142012179		2201	4297	6498	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.375T>C	2.37:g.142012179A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C125	ENST00000389484.3	37	c.375	CCDS2182.1	2																																																																																			LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom	ENSG00000168702		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	23	0	A	NM_018557		142012179	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	G	G	142012179	A	G	142012179	2	3	13	1	0	0	0	0	0	0	0	1	8990	273	10	4		4	LRP1B	2	142012179	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	25336	142012179	101187194	89	3635											
PKP4	8502	genome.wustl.edu	37	chr2	159537122	159537122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccacaaattatgtagactTttattccactaaacgacctt	14	13	4	10	1	0	1	0	0	0	1	1	3	1	1	3	0	1	1	3	0	6	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:159537122T>C	ENST00000389759.3	+	22	3624	c.3512T>C	c.(3511-3513)tTt>tCt	p.F1171S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.F1128S|AC005042.4_ENST00000442666.1_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1171					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATGTAGACTTTTATTCCACT	0.418										HNSCC(62;0.18)																																							0													119	121	120					2																	159537122		2202	4300	6502	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3512T>C	2.37:g.159537122T>C	ENSP00000374409:p.Phe1171Ser		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.F1171S	ENST00000389759.3	37	c.3512	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858517	0.71834	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	D;D	0.85556	-2.0;-1.69	5.49	5.49	0.81192	.	0.052630	0.85682	D	0.000000	D	0.87188	0.6115	L	0.36672	1.1	0.80722	D	1	D;D;D	0.63880	0.993;0.989;0.993	P;P;P	0.58266	0.827;0.836;0.827	D	0.88787	0.3275	10	0.87932	D	0	-13.5186	15.8895	0.79286	0.0:0.0:0.0:1.0	.	1126;1128;1171	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	S	1128;1171	ENSP00000374407:F1128S;ENSP00000374409:F1171S	ENSP00000374407:F1128S	F	+	2	0	PKP4	159245368	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.647000	0.61418	2.207000	0.71202	0.533000	0.62120	TTT	PKP4	-	NULL	ENSG00000144283		0.418	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0	77	0	T			159537122	1	tier1	-	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	C	C	159537122	T	C	159537122	3	2	13	1	0	0	0	0	1	0	0	0	12026	1841	64	4	3594	4	PKP4	2	159537122	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	17524943	159537122	83662251	90	3636											
KCNH7	90134	genome.wustl.edu	37	chr2	163374290	163374290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttggggtggacgccgaatCcttctatatcatggaccgaa	9	11	11	10	3	3	0	1	0	2	0	4	4	4	2	3	4	0	0	3	4	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:163374290C>A	ENST00000332142.5	-	4	941	c.842G>T	c.(841-843)gGa>gTa	p.G281V	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.G281V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	281					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GACGCCGAATCCTTCTATATC	0.413																																					GBM(196;1492 2208 17507 24132 45496)												0													108	99	102					2																	163374290		2203	4300	6503	SO:0001583	missense	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.842G>T	2.37:g.163374290C>A	ENSP00000331727:p.Gly281Val		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.G281V	ENST00000332142.5	37	c.842	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409109	0.83340	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98914	-5.23;-5.23	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.98270	0.9427	L	0.29908	0.895	0.80722	D	1	P;D	0.64830	0.923;0.994	P;D	0.63033	0.504;0.91	D	0.98505	1.0616	10	0.40728	T	0.16	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	281;281	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	V	281	ENSP00000331727:G281V;ENSP00000333781:G281V	ENSP00000333781:G281V	G	-	2	0	KCNH7	163082536	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.541000	0.67212	2.826000	0.97356	0.655000	0.94253	GGA	KCNH7	-	NULL	ENSG00000184611		0.413	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1		0	36	0	C	NM_033272		163374290	-1			no_errors	ENST00000332142	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	163374290	C	A	163374290	3	1	13	1	0	0	0	0	1	0	0	0	8064	855	30	3	2866	3	KCNH7	2	163374290	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3837168	163374290	79825083	91	3637											
FIGN	55137	genome.wustl.edu	37	chr2	164467610	164467610	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagcagacggatagctgtaActggagaggttagaagtccc	12	8	13	8	1	0	3	0	0	0	3	1	5	1	4	1	3	3	4	1	3	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:164467610A>C	ENST00000333129.3	-	3	1046	c.732T>G	c.(730-732)agT>agG	p.S244R	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	244	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GATAGCTGTAACTGGAGAGGT	0.612																																																	0													46	50	48					2																	164467610		1996	4175	6171	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.732T>G	2.37:g.164467610A>C	ENSP00000333836:p.Ser244Arg		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S244R	ENST00000333129.3	37	c.732	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695540	0.48202	.	.	ENSG00000182263	ENST00000333129	T	0.26810	1.71	6.07	2.1	0.27182	.	0.172208	0.50627	D	0.000108	T	0.20088	0.0483	L	0.44542	1.39	0.48762	D	0.999705	B	0.22414	0.069	B	0.23150	0.044	T	0.05419	-1.0886	10	0.59425	D	0.04	-3.0732	7.7109	0.28677	0.67:0.2596:0.0704:0.0	.	244	Q5HY92	FIGN_HUMAN	R	244	ENSP00000333836:S244R	ENSP00000333836:S244R	S	-	3	2	FIGN	164175856	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.638000	0.37165	0.486000	0.27676	0.533000	0.62120	AGT	FIGN	-	NULL	ENSG00000182263		0.612	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	48	0	A	NM_018086		164467610	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	35.29	32	18	SNP	1.000	C	C	164467610	A	C	164467610	3	2	13	1	0	0	0	0	1	0	0	0	5913	40	2	4	1551	4	FIGN	2	164467610	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1093320	164467610	78731763	92	3638											
TTC21B	79809	genome.wustl.edu	37	chr2	166781103	166781103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaggaagactgtttgcagaAgacctggaacagttcttact	12	12	10	7	0	1	3	0	0	1	3	1	5	1	5	1	2	3	3	1	2	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:166781103A>G	ENST00000243344.7	-	12	1609	c.1472T>C	c.(1471-1473)cTt>cCt	p.L491P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	491					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGTTTGCAGAAGACCTGGAAC	0.383																																																	0													49	51	50					2																	166781103		2203	4300	6503	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1472T>C	2.37:g.166781103A>G	ENSP00000243344:p.Leu491Pro		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L491P	ENST00000243344.7	37	c.1472	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117914	0.56505	.	.	ENSG00000123607	ENST00000243344	T	0.76839	-1.05	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90928	0.4788	10	0.87932	D	0	-14.7354	16.0824	0.81014	1.0:0.0:0.0:0.0	.	491	Q7Z4L5	TT21B_HUMAN	P	491	ENSP00000243344:L491P	ENSP00000243344:L491P	L	-	2	0	TTC21B	166489349	1.000000	0.71417	0.986000	0.45419	0.127000	0.20565	8.771000	0.91751	2.203000	0.70933	0.459000	0.35465	CTT	TTC21B	-	NULL	ENSG00000123607		0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0	121	0	A	NM_024753		166781103	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	G	G	166781103	A	G	166781103	3	3	13	1	0	0	0	0	1	0	0	0	16737	72	3	4	2550	4	TTC21B	2	166781103	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2313493	166781103	76418270	93	3639											
XIRP2	129446	genome.wustl.edu	37	chr2	167760191	167760191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtctgccctacagtacaGgggaagagatgtggagttcg	11	8	14	8	1	1	1	0	0	1	1	2	4	1	3	1	3	3	2	1	3	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:167760191G>T	ENST00000409728.1	+	2	288	c.199G>T	c.(199-201)Ggg>Tgg	p.G67W	XIRP2_ENST00000295237.9_Missense_Mutation_p.G67W|XIRP2_ENST00000420519.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409043.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409195.1_Missense_Mutation_p.G67W|XIRP2_ENST00000409756.2_Missense_Mutation_p.G67W	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.G67R(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTACAGTACAGGGGAAGAGAT	0.493																																																	2	Substitution - Missense(2)	lung(2)											77	78	78					2																	167760191		1949	4131	6080	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.199G>T	2.37:g.167760191G>T	ENSP00000386619:p.Gly67Trp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.G67W	ENST00000409728.1	37	c.199	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392895	0.42410	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.79653	-1.28;-1.29;4.06;-1.28;-1.29;4.06	4.79	-1.8	0.07907	.	.	.	.	.	T	0.82250	0.4996	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.58873	0.847;0.847	T	0.71377	-0.4611	8	0.62326	D	0.03	-4.9467	5.2753	0.15645	0.471:0.1457:0.3834:0.0	.	67;67	A4UGR9-4;A4UGR9-6	.;.	W	67	ENSP00000386454:G67W;ENSP00000386619:G67W;ENSP00000386840:G67W;ENSP00000386724:G67W;ENSP00000415541:G67W;ENSP00000295237:G67W	ENSP00000295237:G67W	G	+	1	0	XIRP2	167468437	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.077000	0.03416	-0.442000	0.07190	0.655000	0.94253	GGG	XIRP2	-	NULL	ENSG00000163092		0.493	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	82	0	G	NM_152381		167760191	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.000	T	T	167760191	G	T	167760191	3	4	13	1	0	0	0	0	1	0	0	0	17479	1000	35	3	201	3	XIRP2	2	167760191	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	979088	167760191	75439182	94	3640											
XIRP2	129446	genome.wustl.edu	37	chr2	167992503	167992503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggattctgtgaaagattcaGacaagaaaggcaaggaaaca	19	6	11	5	0	2	4	1	1	1	3	2	6	2	6	0	3	1	1	0	3	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:167992503G>A	ENST00000409728.1	+	3	582	c.493G>A	c.(493-495)Gac>Aac	p.D165N	XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000420519.1_Missense_Mutation_p.D165N|XIRP2_ENST00000409195.1_Missense_Mutation_p.D165N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D165N|XIRP2_ENST00000409043.1_Missense_Mutation_p.D165N|XIRP2_ENST00000409756.2_Missense_Mutation_p.D165N	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D165Y(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAGATTCAGACAAGAAAGG	0.428																																																	2	Substitution - Missense(2)	lung(2)											94	95	95					2																	167992503		1903	4125	6028	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.493G>A	2.37:g.167992503G>A	ENSP00000386619:p.Asp165Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D165N	ENST00000409728.1	37	c.493	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486269	0.44147	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.85702	-1.59;-2.02;3.78;-1.59;-2.02;3.78	5.51	4.63	0.57726	.	.	.	.	.	T	0.79452	0.4448	.	.	.	0.22330	N	0.999199	P;P	0.41848	0.763;0.763	P;P	0.44990	0.466;0.466	T	0.66052	-0.6019	8	0.16420	T	0.52	-7.4776	9.3532	0.38151	0.1758:0.0:0.8242:0.0	.	165;165	A4UGR9-4;A4UGR9-6	.;.	N	165	ENSP00000386454:D165N;ENSP00000386619:D165N;ENSP00000386840:D165N;ENSP00000386724:D165N;ENSP00000415541:D165N;ENSP00000295237:D165N	ENSP00000295237:D165N	D	+	1	0	XIRP2	167700749	0.994000	0.37717	1.000000	0.80357	0.806000	0.45545	3.219000	0.51200	1.337000	0.45525	0.591000	0.81541	GAC	XIRP2	-	NULL	ENSG00000163092		0.428	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1		0	60	0	G	NM_152381		167992503	1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.996	A	A	167992503	G	A	167992503	3	1	13	1	0	0	0	0	1	0	0	0	17479	942	33	3	499	3	XIRP2	2	167992503	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	232312	167992503	75206870	95	3641											
NOSTRIN	115677	genome.wustl.edu	37	chr2	169707381	169707381	+	Intron	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcctatatgccttttgggtCaaaagagcctggggaaagtg	10	11	13	7	0	1	1	1	0	0	1	1	2	1	2	3	3	3	0	3	3	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:169707381C>G	ENST00000317647.7	+	9	859				NOSTRIN_ENST00000421711.2_Intron|NOSTRIN_ENST00000397206.2_Intron|NOSTRIN_ENST00000445023.2_Intron|NOSTRIN_ENST00000397209.2_Intron|NOSTRIN_ENST00000444448.2_Silent_p.V222V|NOSTRIN_ENST00000458381.2_Silent_p.V222V	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking						endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CCTTTTGGGTCAAAAGAGCCT	0.428																																																	0													156	131	139					2																	169707381		692	1591	2283	SO:0001627	intron_variant	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"nitric oxide synthase trafficker"			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.631-213C>G	2.37:g.169707381C>G			A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.V222	ENST00000317647.7	37	c.666	CCDS42771.1	2																																																																																			NOSTRIN	-	NULL	ENSG00000163072		0.428	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	-	0	37	0	C	NM_052946		169707381	1	tier1	-	no_errors	ENST00000444448	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.001	G	G	169707381	C	G	169707381	1	3	13	0	1	0	0	0	0	0	0	0	10585	813	29	5		5	NOSTRIN	2	169707381	Intron	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1714878	169707381	73491992	96	3642											
OSBPL6	114880	genome.wustl.edu	37	chr2	179259041	179259041	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaactgctttctgcttagaTttttggaagaaggaaattta	12	16	8	5	0	2	2	1	0	1	2	2	4	2	4	0	2	3	2	0	2	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179259041T>G	ENST00000190611.4	+	24	2951	c.2575T>G	c.(2575-2577)Ttt>Gtt	p.F859V	OSBPL6_ENST00000315022.2_Splice_Site_p.F863V|OSBPL6_ENST00000409045.3_Splice_Site_p.F828V|OSBPL6_ENST00000409631.1_Splice_Site_p.F823V|OSBPL6_ENST00000359685.3_Splice_Site_p.F823V|OSBPL6_ENST00000392505.2_Splice_Site_p.F884V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	859					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCTGCTTAGATTTTTGGAAGA	0.348																																																	0													90	104	100					2																	179259041		2203	4300	6503	SO:0001630	splice_region_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2574-1T>G	2.37:g.179259041T>G			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F863V	ENST00000190611.4	37	c.2587	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722211	0.48728	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	5.48	5.48	0.80851	.	0.192464	0.56097	D	0.000024	T	0.23806	0.0576	L	0.39245	1.2	0.44603	D	0.997578	B;B;B;B;B	0.15719	0.002;0.0;0.0;0.014;0.005	B;B;B;B;B	0.17098	0.009;0.003;0.001;0.017;0.008	T	0.07462	-1.0771	10	0.17832	T	0.49	-17.5929	10.3608	0.43991	0.0:0.0819:0.0:0.9181	.	828;863;823;884;859	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	V	884;823;828;859;823;863	ENSP00000376293:F884V;ENSP00000352713:F823V;ENSP00000387248:F828V;ENSP00000190611:F859V;ENSP00000386885:F823V;ENSP00000318723:F863V	ENSP00000190611:F859V	F	+	1	0	OSBPL6	178967287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.992000	0.49417	2.302000	0.77476	0.528000	0.53228	TTT	OSBPL6	-	pfam_Oxysterol-bd	ENSG00000079156		0.348	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0	52	0	T	NM_032523	Missense_Mutation	179259041	1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	G	G	179259041	T	G	179259041	5	3	13	1	0	0	0	0	0	0	1	0	11320	1507	52	4	2783	4	OSBPL6	2	179259041	Splice_Site	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	9551660	179259041	63940332	97	3643											
TTN	7273	genome.wustl.edu	37	chr2	179439225	179439225	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttgcctggtactaaagcTttgctcacagtctgccagag	9	12	10	10	0	2	1	1	0	1	1	2	1	2	1	2	1	5	4	2	1	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179439225T>G	ENST00000591111.1	-	276	66935	c.66711A>C	c.(66709-66711)aaA>aaC	p.K22237N	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K23878N|TTN_ENST00000342992.6_Missense_Mutation_p.K21310N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14938N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15005N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14813N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22237	Fibronectin type-III 61. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACTAAAGCTTTGCTCACAG	0.423																																																	0													212	210	211					2																	179439225		1912	4123	6035	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66711A>C	2.37:g.179439225T>G	ENSP00000465570:p.Lys22237Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K21310N	ENST00000591111.1	37	c.63930		2	.	.	.	.	.	.	.	.	.	.	T	9.804	1.181354	0.21787	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.7	2.15	0.27550	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65626	0.2709	M	0.63428	1.95	0.50632	D	0.999885	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66736	-0.5848	9	0.87932	D	0	.	9.3386	0.38065	0.0:0.317:0.0:0.683	.	14813;14938;15005;22237	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	21310;14813;15005;14938;14811	ENSP00000343764:K21310N;ENSP00000434586:K14813N;ENSP00000340554:K15005N;ENSP00000352154:K14938N	ENSP00000340554:K15005N	K	-	3	2	TTN	179147471	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.342000	0.43992	0.997000	0.38969	0.528000	0.53228	AAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	37	0	T	NM_133378		179439225	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.998	G	G	179439225	T	G	179439225	3	3	13	1	0	0	0	0	1	0	0	0	16784	1606	56	4	36493	4	TTN	2	179439225	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	180184	179439225	63760148	98	3644											
TTN	7273	genome.wustl.edu	37	chr2	179583986	179583986	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagggctccaacaagctcAgattcaaagtacagacgttt	13	8	10	10	2	2	2	2	0	0	2	3	3	3	3	1	2	3	4	1	2	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179583986A>C	ENST00000591111.1	-	81	23404	c.23180T>G	c.(23179-23181)cTg>cGg	p.L7727R	TTN_ENST00000589042.1_Missense_Mutation_p.L8044R|TTN_ENST00000342992.6_Missense_Mutation_p.L6800R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13270	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAAGCTCAGATTCAAAGT	0.507																																																	0													103	106	105					2																	179583986		1969	4159	6128	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23180T>G	2.37:g.179583986A>C	ENSP00000465570:p.Leu7727Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L6800R	ENST00000591111.1	37	c.20399		2	.	.	.	.	.	.	.	.	.	.	A	10.27	1.302725	0.23736	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79724	0.4495	M	0.93062	3.375	0.80722	D	1	P	0.47484	0.896	P	0.46629	0.522	D	0.85095	0.0954	9	0.87932	D	0	.	16.6438	0.85155	1.0:0.0:0.0:0.0	.	7727	Q8WZ42	TITIN_HUMAN	R	6800	ENSP00000343764:L6800R	ENSP00000343764:L6800R	L	-	2	0	TTN	179292231	0.054000	0.20591	1.000000	0.80357	0.983000	0.72400	3.430000	0.52807	2.333000	0.79357	0.533000	0.62120	CTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	83	0	A	NM_133378		179583986	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.851	C	C	179583986	A	C	179583986	3	2	13	1	0	0	0	0	1	0	0	0	16784	188	7	4	80518	4	TTN	2	179583986	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	144761	179583986	63615387	99	3645											
TTN	7273	genome.wustl.edu	37	chr2	179606379	179606379	+	Frame_Shift_Del	DEL	T	T	-																															tttgtagtcagcagaaggggTtaatagcactccattaaaga																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:179606379delT	ENST00000591111.1	-	46	10854	c.10630delA	c.(10630-10632)accfs	p.T3544fs	TTN_ENST00000589042.1_Frame_Shift_Del_p.T3861fs|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Frame_Shift_Del_p.T3623fs|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T3690fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T3498fs|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13879	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGAAGGGGTTAATAGCACT	0.418																																																	0													123	118	120					2																	179606379		1919	4118	6037	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10630delA	2.37:g.179606379delT	ENSP00000465570:p.Thr3544fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T3690fs	ENST00000591111.1	37	c.11068		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	48	0	T	NM_133378		179606379	-1	tier1		no_errors	ENST00000342175	ensembl	human	known	74_37	frame_shift_del	50.00	23	23	DEL	1.000	-	-	179606379	T	-	179606379	7	5	13	1	0	1	0	1	0	0	0	0	16784	1725	60	0	93208	0	TTN	2	179606379	Frame_Shift_Del	DEL	T	TCGA-IC-A6RE-01A-11D-A33E-09	22393	179606379	63592994	100	3646											
DUSP19	142679	genome.wustl.edu	37	chr2	183960176	183960176	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggatggagtggttcttgtTcattgtaatgcaggcgtttc	7	16	13	5	1	2	0	1	0	1	0	3	2	2	2	0	4	1	5	0	4	2	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:183960176T>C	ENST00000354221.4	+	4	619	c.444T>C	c.(442-444)gtT>gtC	p.V148V	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Silent_p.V97V|AC064871.3_ENST00000413954.1_RNA	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	148	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TGGTTCTTGTTCATTGTAATG	0.333																																																	0													119	126	123					2																	183960176		2203	4300	6503	SO:0001819	synonymous_variant	0			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.444T>C	2.37:g.183960176T>C			B2RA79|Q547H4|Q8WYN4	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP	p.V148	ENST00000354221.4	37	c.444	CCDS2289.1	2																																																																																			DUSP19	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000162999		0.333	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP19	HGNC	protein_coding	OTTHUMT00000255866.1		0	55	0	T			183960176	1			no_errors	ENST00000354221	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.994	C	C	183960176	T	C	183960176	2	2	13	1	0	0	0	0	0	0	0	1	4832	1770	62	4		4	DUSP19	2	183960176	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4353797	183960176	59239197	101	3647											
ZSWIM2	151112	genome.wustl.edu	37	chr2	187694604	187694604	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtgttttggtgtgtaaacTtggctgaatgagaataagca	12	14	12	3	0	0	2	0	2	0	1	0	3	0	2	0	2	2	4	0	2	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:187694604T>G	ENST00000295131.2	-	8	984	c.945A>C	c.(943-945)caA>caC	p.Q315H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	315					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTGTGTAAACTTGGCTGAATG	0.368																																																	0													190	181	184					2																	187694604		2203	4300	6503	SO:0001583	missense	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.945A>C	2.37:g.187694604T>G	ENSP00000295131:p.Gln315His		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.Q315H	ENST00000295131.2	37	c.945	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295010	0.23564	.	.	ENSG00000163012	ENST00000295131	T	0.24723	1.84	5.74	-4.51	0.03483	.	0.619164	0.14633	N	0.307711	T	0.14874	0.0359	L	0.43923	1.385	0.09310	N	1	P	0.42337	0.776	B	0.37780	0.258	T	0.11155	-1.0599	10	0.48119	T	0.1	-5.8848	4.8335	0.13453	0.11:0.1766:0.1085:0.6049	.	315	Q8NEG5	ZSWM2_HUMAN	H	315	ENSP00000295131:Q315H	ENSP00000295131:Q315H	Q	-	3	2	ZSWIM2	187402849	0.000000	0.05858	0.082000	0.20525	0.295000	0.27426	-1.942000	0.01541	-0.441000	0.07201	-0.371000	0.07208	CAA	ZSWIM2	-	NULL	ENSG00000163012		0.368	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1		0	83	0	T	NM_182521		187694604	-1			no_errors	ENST00000295131	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.003	G	G	187694604	T	G	187694604	3	3	13	1	0	0	0	0	1	0	0	0	18289	1606	56	4	964	4	ZSWIM2	2	187694604	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3734428	187694604	55504769	102	3648											
DNAH7	56171	genome.wustl.edu	37	chr2	196801481	196801481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcagcctttccagcatTctgtcaatggttacaactgt	8	17	6	10	0	3	0	2	0	1	0	4	0	4	0	2	1	4	2	2	1	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:196801481T>A	ENST00000312428.6	-	20	3214	c.3114A>T	c.(3112-3114)agA>agT	p.R1038S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1038	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCAGCATTCTGTCAATGG	0.289																																																	0													56	52	54					2																	196801481		1795	4057	5852	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3114A>T	2.37:g.196801481T>A	ENSP00000311273:p.Arg1038Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1038S	ENST00000312428.6	37	c.3114	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	8.608	0.888366	0.17540	.	.	ENSG00000118997	ENST00000312428	T	0.60797	0.16	5.78	-1.24	0.09435	Dynein heavy chain, domain-2 (1);	0.218097	0.45606	D	0.000352	T	0.40619	0.1124	N	0.25426	0.745	0.32270	N	0.568967	B	0.19445	0.036	B	0.24006	0.05	T	0.39187	-0.9626	10	0.37606	T	0.19	.	11.7769	0.51991	0.0:0.5409:0.0:0.4591	.	1038	Q8WXX0	DYH7_HUMAN	S	1038	ENSP00000311273:R1038S	ENSP00000311273:R1038S	R	-	3	2	DNAH7	196509726	0.000000	0.05858	0.144000	0.22314	0.507000	0.33981	-0.137000	0.10389	-0.122000	0.11766	-0.326000	0.08463	AGA	DNAH7	-	pfam_Dynein_heavy_dom-2	ENSG00000118997		0.289	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	44	0	T	NM_018897		196801481	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.023	A	A	196801481	T	A	196801481	3	1	13	1	0	0	0	0	1	0	0	0	4620	1780	62	5	9144	5	DNAH7	2	196801481	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	9106877	196801481	46397892	103	3649											
SPATS2L	26010	genome.wustl.edu	37	chr2	201284107	201284107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacggccccatgaatggctgCgagaaggacagctcgtccac	11	5	12	13	3	0	2	0	1	0	1	2	4	1	3	3	3	3	2	3	3	3	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:201284107C>T	ENST00000358677.5	+	6	580	c.333C>T	c.(331-333)tgC>tgT	p.C111C	SPATS2L_ENST00000409718.1_Silent_p.C111C|SPATS2L_ENST00000409140.3_Silent_p.C111C|SPATS2L_ENST00000451764.2_Silent_p.C111C|SPATS2L_ENST00000409755.3_Silent_p.C141C|SPATS2L_ENST00000409151.1_Silent_p.C119C|SPATS2L_ENST00000360760.5_Silent_p.C111C|SPATS2L_ENST00000409385.1_Silent_p.C51C|SPATS2L_ENST00000409988.3_Silent_p.C111C	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	111						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGGCTGCGAGAAGGACA	0.522																																																	0													36	39	38					2																	201284107		1921	4136	6057	SO:0001819	synonymous_variant	0			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.333C>T	2.37:g.201284107C>T			A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Silent	SNP	pfam_DUF1387,superfamily_UBA-like	p.C141	ENST00000358677.5	37	c.423	CCDS46483.1	2																																																																																			SPATS2L	-	pfam_DUF1387	ENSG00000196141		0.522	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	-	0	44	0	C	NM_015535		201284107	1	tier1	-	no_errors	ENST00000409755	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.715	T	T	201284107	C	T	201284107	2	4	13	1	0	0	0	0	0	0	0	1	15067	776	27	1		1	SPATS2L	2	201284107	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4482626	201284107	41915266	104	3650											
FZD5	7855	genome.wustl.edu	37	chr2	208632693	208632693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagcgttccatgtcgatgagGaaggtggccactgtggtgga	9	9	16	7	2	0	1	0	1	0	0	2	4	1	3	2	5	1	1	2	5	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:208632693G>A	ENST00000295417.3	-	2	1324	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	257					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGTCGATGAGGAAGGTGGCCA	0.617																																																	0													86	79	81					2																	208632693		2202	4298	6500	SO:0001819	synonymous_variant	0			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"GPCR / Class F : Frizzled receptors"	4043	protein-coding gene	gene with protein product		601723	"frizzled (Drosophila) homolog 5", "chromosome 2 open reading frame 31", "frizzled homolog 5 (Drosophila)", "frizzled 5, seven transmembrane spanning receptor", "frizzled family receptor 5"	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.771C>T	2.37:g.208632693G>A			A8K2X1|B2RCZ1|Q53R22	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F257	ENST00000295417.3	37	c.771	CCDS33366.1	2																																																																																			FZD5	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000163251		0.617	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD5	HGNC	protein_coding	OTTHUMT00000337060.1	-	0	52	0	G	NM_003468		208632693	-1	tier1	-	no_errors	ENST00000295417	ensembl	human	known	74_37	silent	12.00	44	6	SNP	1.000	A	A	208632693	G	A	208632693	2	1	13	1	0	0	0	0	0	0	0	1	6157	1165	41	3		3	FZD5	2	208632693	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	7348586	208632693	34566680	105	3651											
PLEKHM3	389072	genome.wustl.edu	37	chr2	208841894	208841894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtggcagcagcccactggTtttcttctggaaactatgat	8	12	11	10	1	2	1	0	1	2	0	2	2	2	2	1	4	3	3	1	4	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:208841894T>C	ENST00000427836.2	-	3	1516	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T343A|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.T343A	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	343					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCCCACTGGTTTTCTTCTGG	0.512																																																	0													104	104	104					2																	208841894		1957	4154	6111	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1027A>G	2.37:g.208841894T>C	ENSP00000417003:p.Thr343Ala		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T343A	ENST00000427836.2	37	c.1027	CCDS42808.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.436|0.436	-0.901097|-0.901097	0.02453|0.02453	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|T;T;T	.|0.12147	.|2.71;2.71;2.71	5.82|5.82	-6.85|-6.85	0.01681|0.01681	.|.	.|1.542140	.|0.03154	.|N	.|0.168379	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.29549|0.29549	-1.0008|-1.0008	5|10	.|0.48119	.|T	.|0.1	.|.	2.6315|2.6315	0.04946|0.04946	0.1667:0.3058:0.3451:0.1824|0.1667:0.3058:0.3451:0.1824	.|.	.|343;343	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	S|A	94|343	.|ENSP00000417003:T343A;ENSP00000373899:T343A;ENSP00000400150:T343A	.|ENSP00000373899:T343A	N|T	-|-	2|1	0|0	PLEKHM3|PLEKHM3	208550139|208550139	0.868000|0.868000	0.29978|0.29978	0.009000|0.009000	0.14445|0.14445	0.017000|0.017000	0.09413|0.09413	0.296000|0.296000	0.19083|0.19083	-1.618000|-1.618000	0.01568|0.01568	-1.162000|-1.162000	0.01777|0.01777	AAC|ACC	PLEKHM3	-	NULL	ENSG00000178385		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	-	0	41	0	T	NM_001080475		208841894	-1	tier1	-	no_errors	ENST00000427836	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.000	C	C	208841894	T	C	208841894	3	2	13	1	0	0	0	0	1	0	0	0	12121	1725	60	4	1282	4	PLEKHM3	2	208841894	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	209201	208841894	34357479	106	3652											
ERBB4	2066	genome.wustl.edu	37	chr2	212566835	212566835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgctgatttccttcaggGactggaactgtagagaggtg	8	11	14	8	1	1	2	1	1	0	1	2	5	2	4	1	3	2	2	1	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:212566835G>T	ENST00000342788.4	-	12	1656	c.1346C>A	c.(1345-1347)tCc>tAc	p.S449Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.S449Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.S449Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	449					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCCTTCAGGGACTGGAACTG	0.458										TSP Lung(8;0.080)																																							0													151	137	142					2																	212566835		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1346C>A	2.37:g.212566835G>T	ENSP00000342235:p.Ser449Tyr		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S449Y	ENST00000342788.4	37	c.1346	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.840143|4.840143	0.91117|0.91117	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.52754	.|0.65;0.65;0.65	5.71|5.71	5.71|5.71	0.89125|0.89125	.|EGF receptor, L domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78547|0.78547	0.4300|0.4300	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.83661|0.83661	0.0161|0.0161	5|10	.|0.87932	.|D	.|0	.|.	19.8769|19.8769	0.96880|0.96880	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|449;449;308;449;449	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	T|Y	449|449	.|ENSP00000342235:S449Y;ENSP00000403204:S449Y;ENSP00000385565:S449Y	.|ENSP00000342235:S449Y	P|S	-|-	1|2	0|0	ERBB4|ERBB4	212275080|212275080	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	9.837000|9.837000	0.99465|0.99465	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	CCC|TCC	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	45	0	G	NM_001042599		212566835	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T	T	212566835	G	T	212566835	3	4	13	1	0	0	0	0	1	0	0	0	5225	1174	41	3	2648	3	ERBB4	2	212566835	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3724941	212566835	30632538	107	3653											
STK36	27148	genome.wustl.edu	37	chr2	219557002	219557002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagttccacagctccctgTccacactccccaaggtaacc	10	7	6	18	0	0	0	0	0	0	0	4	1	4	0	6	1	2	3	6	1	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:219557002T>C	ENST00000295709.3	+	15	2180	c.1901T>C	c.(1900-1902)gTc>gCc	p.V634A	STK36_ENST00000392105.3_Missense_Mutation_p.V634A|STK36_ENST00000392106.2_Missense_Mutation_p.V634A|STK36_ENST00000440309.1_Missense_Mutation_p.V634A	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CAGCTCCCTGTCCACACTCCC	0.532																																																	0													75	82	79					2																	219557002		2203	4300	6503	SO:0001583	missense	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1901T>C	2.37:g.219557002T>C	ENSP00000295709:p.Val634Ala			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V634A	ENST00000295709.3	37	c.1901	CCDS2421.1	2	.	.	.	.	.	.	.	.	.	.	T	10.64	1.405869	0.25378	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.68479	-0.33;-0.33;0.75;-0.33	4.85	4.85	0.62838	Armadillo-like helical (1);	0.467796	0.18159	N	0.149846	T	0.46908	0.1417	N	0.08118	0	0.21967	N	0.999443	B;B	0.23249	0.082;0.049	B;B	0.26416	0.069;0.046	T	0.42378	-0.9455	10	0.46703	T	0.11	-9.6107	10.7522	0.46216	0.0:0.0:0.0:1.0	.	634;634	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	A	634	ENSP00000295709:V634A;ENSP00000375955:V634A;ENSP00000375954:V634A;ENSP00000394095:V634A	ENSP00000295709:V634A	V	+	2	0	STK36	219265246	1.000000	0.71417	0.995000	0.50966	0.354000	0.29330	1.976000	0.40579	2.035000	0.60131	0.533000	0.62120	GTC	STK36	-	superfamily_ARM-type_fold	ENSG00000163482		0.532	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	-	0	37	0	T			219557002	1	tier1	-	no_errors	ENST00000295709	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.995	C	C	219557002	T	C	219557002	3	2	13	1	0	0	0	0	1	0	0	0	15349	1667	58	4	1955	4	STK36	2	219557002	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6990167	219557002	23642371	108	3654											
SPEG	10290	genome.wustl.edu	37	chr2	220355177	220355177	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagaatgccacggggCgaacgttcgtggccaagatc	9	5	16	11	5	0	2	0	0	0	2	2	4	0	2	3	4	2	1	3	4	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:220355177C>T	ENST00000312358.7	+	37	9100	c.8968C>T	c.(8968-8970)Cga>Tga	p.R2990*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2990	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCCACGGGGCGAACGTTCGT	0.667																																																	0													41	48	46					2																	220355177		2124	4229	6353	SO:0001587	stop_gained	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8968C>T	2.37:g.220355177C>T	ENSP00000311684:p.Arg2990*		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R2990*	ENST00000312358.7	37	c.8968	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	50	17.196486	0.99881	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	.	.	.	4.64	2.8	0.32819	.	0.000000	0.34853	N	0.003625	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2778	0.54747	0.6278:0.3722:0.0:0.0	.	.	.	.	X	2990	.	ENSP00000265327:R2990X	R	+	1	2	SPEG	220063421	0.992000	0.36948	0.917000	0.36280	0.970000	0.65996	2.827000	0.48112	0.546000	0.28920	-0.293000	0.09583	CGA	SPEG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000072195		0.667	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0	63	0	C	NM_005876		220355177	1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	nonsense	60.42	19	29	SNP	0.759	T	T	220355177	C	T	220355177	4	4	13	1	0	0	0	0	0	1	0	0	15083	760	27	1	9126	1	SPEG	2	220355177	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	798175	220355177	22844196	109	3655											
SPHKAP	80309	genome.wustl.edu	37	chr2	228860248	228860248	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atggatcgctcactgagctgGagaaagctacttgtgtcatc	10	11	11	9	1	2	2	2	1	0	1	4	4	2	3	0	2	3	3	0	2	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:228860248G>C	ENST00000392056.3	-	8	4657	c.4611C>G	c.(4609-4611)ctC>ctG	p.L1537L	SPHKAP_ENST00000344657.5_Silent_p.L1537L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1537						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CACTGAGCTGGAGAAAGCTAC	0.507																																																	0													230	199	209					2																	228860248		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4611C>G	2.37:g.228860248G>C			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.L1537	ENST00000392056.3	37	c.4611	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	34	0	G	NM_030623		228860248	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	29.55	31	13	SNP	1.000	C	C	228860248	G	C	228860248	2	2	13	1	0	0	0	0	0	0	0	1	15095	1161	41	5		5	SPHKAP	2	228860248	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8505071	228860248	14339125	110	3656											
DNER	92737	genome.wustl.edu	37	chr2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-																															caaatgcagaggtagccatcGctgctgctgctgctgctgct																								rs376000556	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:230456533_230456535delGCT	ENST00000341772.4	-	2	480_482	c.346_348delAGC	c.(346-348)agcdel	p.S116del		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	116	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Interaction with NOTCH1. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTAGCCATCgctgctgctgctg	0.532																																																	0																																										SO:0001651	inframe_deletion	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.346_348delAGC	2.37:g.230456542_230456544delGCT	ENSP00000345229:p.Ser116del		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	In_Frame_Del	DEL	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S116in_frame_del	ENST00000341772.4	37	c.348_346	CCDS33390.1	2																																																																																			DNER	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000187957		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1		0	47	0	GCT	NM_139072		230456535	-1	tier1		no_errors	ENST00000341772	ensembl	human	known	74_37	in_frame_del	10.26	35	4	DEL	0.003:0.004:0.006	-	-	230456535	GCT	-	230456533	7	5	13	1	0	1	0	1	0	0	0	0	4681	1078	38	0	1913	0	DNER	2	230456533	In_Frame_Del	DEL	GCT	TCGA-IC-A6RE-01A-11D-A33E-09	1596285	230456533	12742840	111	3657											
GPR55	9290	genome.wustl.edu	37	chr2	231775283	231775283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcttcctgggggaccggAggtggctcaccagtagcggg	7	7	17	10	2	2	1	1	0	1	1	3	3	3	3	3	6	1	2	3	6	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:231775283A>G	ENST00000392040.1	-	2	587	c.395T>C	c.(394-396)cTc>cCc	p.L132P	GPR55_ENST00000392039.2_Missense_Mutation_p.L132P|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	132					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GGGGGACCGGAGGTGGCTCAC	0.542																																																	0													51	47	49					2																	231775283		2203	4300	6503	SO:0001583	missense	0			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.395T>C	2.37:g.231775283A>G	ENSP00000375894:p.Leu132Pro		Q8N580	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L132P	ENST00000392040.1	37	c.395	CCDS2480.1	2	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480576	0.63849	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.73047	-0.71;-0.71;-0.71	5.65	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.835210	0.10867	N	0.625345	T	0.79782	0.4505	M	0.73753	2.245	0.58432	D	0.999996	D	0.71674	0.998	D	0.68943	0.961	T	0.72434	-0.4295	10	0.33940	T	0.23	-25.5335	6.7608	0.23540	0.5942:0.3268:0.0791:0.0	.	132	Q9Y2T6	GPR55_HUMAN	P	132	ENSP00000375894:L132P;ENSP00000375893:L132P;ENSP00000412768:L132P	ENSP00000375893:L132P	L	-	2	0	GPR55	231483527	0.030000	0.19436	0.988000	0.46212	0.891000	0.51852	2.917000	0.48821	0.395000	0.25257	0.533000	0.62120	CTC	GPR55	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135898		0.542	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	HGNC	protein_coding	OTTHUMT00000332618.1	-	0	53	0	A	NM_005683		231775283	-1	tier1	-	no_errors	ENST00000392039	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.991	G	G	231775283	A	G	231775283	3	3	13	1	0	0	0	0	1	0	0	0	6725	304	11	4	568	4	GPR55	2	231775283	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1318750	231775283	11424090	112	3658											
SAG	6295	genome.wustl.edu	37	chr2	234235800	234235800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgaggtcaaagcattcGccacagacagcaccgatgcc	12	7	9	13	2	1	2	1	1	0	1	2	3	1	2	3	1	3	2	3	1	1	2	rs201283305		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:234235800G>A	ENST00000409110.1	+	7	699	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_ENST00000449594.2_Missense_Mutation_p.A23T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	157					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587													G|||	1	0.000199681	0	0	5008	,	,		20140	0.001		0	False		,,,				2504	0																0								G	THR/ALA	0,4158		0,0,2079	119	121	120		469	4	0.1	2		120	1,8433		0,1,4216	yes	missense	SAG	NM_000541.4	58	0,1,6295	AA,AG,GG		0.0119,0.0,0.0079	benign	157/406	234235800	1,12591	2079	4217	6296	SO:0001583	missense	0				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.469G>A	2.37:g.234235800G>A	ENSP00000386444:p.Ala157Thr		A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.A157T	ENST00000409110.1	37	c.469	CCDS46545.1	2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802254	0.31869	0.0	1.19E-4	ENSG00000130561	ENST00000252857;ENST00000447536;ENST00000409110;ENST00000449594	T;T;T	0.17213	2.56;2.56;2.29	3.96	3.96	0.45880	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.327480	0.36409	N	0.002601	T	0.16085	0.0387	L	0.38531	1.155	0.20821	N	0.999849	D;D	0.60575	0.986;0.988	B;P	0.45577	0.329;0.486	T	0.08973	-1.0696	10	0.46703	T	0.11	-30.7478	11.0952	0.48141	0.0:0.0:0.8017:0.1983	.	23;157	B7Z7L5;P10523	.;ARRS_HUMAN	T	157;157;157;23	ENSP00000408937:A157T;ENSP00000386444:A157T;ENSP00000392889:A23T	ENSP00000252857:A157T	A	+	1	0	SAG	233900539	0.983000	0.35010	0.070000	0.20053	0.076000	0.17211	1.982000	0.40638	2.204000	0.70986	0.555000	0.69702	GCC	SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000130561		0.587	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1	-	0	52	0	G	NM_000541		234235800	1	tier1	rs201283305	no_errors	ENST00000409110	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.258	A	A	234235800	G	A	234235800	3	1	13	1	0	0	0	0	1	0	0	0	13853	1087	38	1	491	1	SAG	2	234235800	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2460517	234235800	8963573	113	3659											
AGXT	189	genome.wustl.edu	37	chr2	241813453	241813453	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgcccctccagggacctcGctcatctccttcagtgacaa	9	8	7	17	2	3	1	2	1	1	0	6	2	4	2	5	1	1	1	5	1	2	1	rs33958047	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:241813453G>C	ENST00000307503.3	+	6	1041	c.654G>C	c.(652-654)tcG>tcC	p.S218S		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	218			S -> L (in HP1). {ECO:0000269|PubMed:15963748}.		cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CAGGGACCTCGCTCATCTCCT	0.642																																																	0													90	80	84					2																	241813453		2203	4300	6503	SO:0001819	synonymous_variant	0			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.654G>C	2.37:g.241813453G>C			Q53QU6	Silent	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	p.S218	ENST00000307503.3	37	c.654	CCDS2543.1	2																																																																																			AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172482		0.642	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	-	0	12	0	G	NM_000030		241813453	1	tier1	-	no_errors	ENST00000307503	ensembl	human	known	74_37	silent	20.83	18	5	SNP	0.001	C	C	241813453	G	C	241813453	2	2	13	1	0	0	0	0	0	0	0	1	404	1074	38	5		5	AGXT	2	241813453	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	7577653	241813453	1385920	114	3660											
ANO7	50636	genome.wustl.edu	37	chr2	242149948	242149948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcctcatcctctccaaGatctatgtatccctggccca	8	13	4	16	0	4	1	2	0	2	1	8	1	7	1	5	1	0	1	5	1	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:242149948G>T	ENST00000274979.8	+	15	1789	c.1686G>T	c.(1684-1686)aaG>aaT	p.K562N	ANO7_ENST00000402430.3_Missense_Mutation_p.K561N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	562					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TCCTCTCCAAGATCTATGTAT	0.647																																																	0													109	92	98					2																	242149948		2203	4300	6503	SO:0001583	missense	0			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1686G>T	2.37:g.242149948G>T	ENSP00000274979:p.Lys562Asn		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.K562N	ENST00000274979.8	37	c.1686	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	7.702	0.693266	0.15039	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.64260	-0.09;-0.09	3.12	1.81	0.25067	.	1.163790	0.06701	U	0.771445	T	0.60457	0.2270	L	0.52823	1.66	0.09310	N	1	P	0.40553	0.721	P	0.45913	0.497	T	0.51236	-0.8731	10	0.27082	T	0.32	.	5.4086	0.16336	0.3203:0.0:0.6797:0.0	.	562	Q6IWH7	ANO7_HUMAN	N	562;561	ENSP00000274979:K562N;ENSP00000385418:K561N	ENSP00000274979:K562N	K	+	3	2	ANO7	241798621	0.003000	0.15002	0.029000	0.17559	0.299000	0.27559	0.312000	0.19397	1.453000	0.47775	0.313000	0.20887	AAG	ANO7	-	pfam_Anoctamin	ENSG00000146205		0.647	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	-	0	36	0	G	NM_001001891		242149948	1	tier1	-	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.046	T	T	242149948	G	T	242149948	3	4	13	1	0	0	0	0	1	0	0	0	702	933	33	3	1816	3	ANO7	2	242149948	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	336495	242149948	1049425	115	3661											
HDLBP	3069	genome.wustl.edu	37	chr2	242186238	242186238	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttgcctgtgatgataaTggtctctgaattgctattct	7	17	9	8	1	2	3	0	3	2	0	4	3	2	3	1	1	2	2	1	1	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:242186238T>A	ENST00000391975.1	-	16	2106	c.1879A>T	c.(1879-1881)Att>Ttt	p.I627F	AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000391976.2_Missense_Mutation_p.I627F|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000427183.2_Missense_Mutation_p.I594F|HDLBP_ENST00000310931.4_Missense_Mutation_p.I627F	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	627	KH 7. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTGATGATAATGGTCTCTGAA	0.468																																																	0													177	175	175					2																	242186238		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1879A>T	2.37:g.242186238T>A	ENSP00000375836:p.Ile627Phe		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.I627F	ENST00000391975.1	37	c.1879	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.23|14.23	2.472950|2.472950	0.43942|0.43942	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931	.|T;T;T;T;T	.|0.38560	.|1.13;1.13;1.13;1.13;1.13	6.16|6.16	5.0|5.0	0.66597|0.66597	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55114|0.55114	0.1900|0.1900	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	.|D;P	.|0.55385	.|0.971;0.871	.|P;P	.|0.62491	.|0.9;0.903	T|T	0.57248|0.57248	-0.7844|-0.7844	5|10	.|0.87932	.|D	.|0	-11.7473|-11.7473	12.4623|12.4623	0.55738|0.55738	0.0:0.065:0.0:0.935|0.0:0.065:0.0:0.935	.|.	.|594;627	.|E7EM71;Q00341	.|.;VIGLN_HUMAN	L|F	435|627;627;627;594;136	.|ENSP00000375836:I627F;ENSP00000375837:I627F;ENSP00000312042:I627F;ENSP00000399139:I594F;ENSP00000388876:I136F	.|ENSP00000312042:I627F	H|I	-|-	2|1	0|0	HDLBP|HDLBP	241834911|241834911	1.000000|1.000000	0.71417|0.71417	0.015000|0.015000	0.15790|0.15790	0.045000|0.045000	0.14185|0.14185	7.971000|7.971000	0.88012|0.88012	1.141000|1.141000	0.42275|0.42275	0.528000|0.528000	0.53228|0.53228	CAT|ATT	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.468	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0	51	0	T	NM_203346		242186238	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	25.93	40	14	SNP	0.998	A	A	242186238	T	A	242186238	3	1	13	1	0	0	0	0	1	0	0	0	7052	1464	51	5	1979	5	HDLBP	2	242186238	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	36290	242186238	1013135	116	3662											
FARP2	9855	genome.wustl.edu	37	chr2	242343251	242343251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgcacagcctaaatgCgatggccaggtattactgac	10	10	9	12	1	1	1	0	1	1	0	2	2	1	1	2	2	4	2	2	2	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr2:242343251C>T	ENST00000264042.3	+	3	362	c.192C>T	c.(190-192)tgC>tgT	p.C64C	FARP2_ENST00000545004.1_Silent_p.C64C|FARP2_ENST00000373287.4_Silent_p.C64C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	64	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.C64C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGCCTAAATGCGATGGCCAGG	0.413																																																	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)											109	102	104					2																	242343251		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.192C>T	2.37:g.242343251C>T			B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.C64	ENST00000264042.3	37	c.192	CCDS33424.1	2																																																																																			FARP2	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000006607		0.413	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1		0	116	0	C			242343251	1			no_errors	ENST00000264042	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.000	T	T	242343251	C	T	242343251	2	4	13	1	0	0	0	0	0	0	0	1	5699	776	27	1		1	FARP2	2	242343251	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	157013	242343251	856122	117	3663											
ITPR1	3708	genome.wustl.edu	37	chr3	4704812	4704812	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggaactaattctggtcaAgatgttctcgaagttgtctt	9	15	11	6	1	4	1	1	0	3	1	5	3	4	2	0	3	1	2	0	3	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:4704812A>G	ENST00000443694.2	+	13	1431	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.Q477Q|ITPR1_ENST00000423119.2_Silent_p.Q492Q|ITPR1_ENST00000302640.8_Silent_p.Q477Q|ITPR1_ENST00000354582.6_Silent_p.Q492Q|ITPR1_ENST00000357086.4_Silent_p.Q492Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	492					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ATTCTGGTCAAGATGTTCTCG	0.453																																																	0													143	140	141					3																	4704812		1957	4161	6118	SO:0001819	synonymous_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1431A>G	3.37:g.4704812A>G			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Q477	ENST00000443694.2	37	c.1431	CCDS54551.1	3																																																																																			ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0	120	0	A	NM_002222		4704812	1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	silent	8.97	71	7	SNP	1.000	G	G	4704812	A	G	4704812	2	3	13	1	0	0	0	0	0	0	0	1	7947	69	3	4		4	ITPR1	3	4704812	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09		4704812	193317618	118	3664											
C3orf32	51066	genome.wustl.edu	37	chr3	8661589	8661589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacagcaataccgctcagGatagtccaccgcatacacct	12	6	7	16	2	1	0	1	0	0	0	2	1	2	1	5	1	3	3	5	1	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:8661589G>T	ENST00000317371.4	-	19	2252	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	SSUH2_ENST00000341795.3_Missense_Mutation_p.P343T|SSUH2_ENST00000544814.1_Missense_Mutation_p.P365T|SSUH2_ENST00000415132.1_3'UTR			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	343						cytoplasm (GO:0005737)											TACCGCTCAGGATAGTCCACC	0.517																																																	0													173	142	153					3																	8661589		2203	4300	6503	SO:0001583	missense	0			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.1027C>A	3.37:g.8661589G>T	ENSP00000324551:p.Pro343Thr		A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.P365T	ENST00000317371.4	37	c.1093	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911226	0.52439	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.61627	0.12;0.12;0.09	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	M	0.71871	2.18	0.48341	D	0.999636	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77381	-0.2609	10	0.87932	D	0	-13.4244	13.9457	0.64082	0.0:0.0:1.0:0.0	.	365;343	F5H2S5;Q9Y2M2	.;CC032_HUMAN	T	343;343;365	ENSP00000339150:P343T;ENSP00000324551:P343T;ENSP00000439378:P365T	ENSP00000324551:P343T	P	-	1	0	C3orf32	8636589	1.000000	0.71417	0.786000	0.31890	0.133000	0.20885	6.250000	0.72435	2.335000	0.79485	0.467000	0.42956	CCT	SSUH2	-	NULL	ENSG00000125046		0.517	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1	-	0	57	0	G	NM_015931		8661589	-1	tier1	-	no_errors	ENST00000544814	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	T	T	8661589	G	T	8661589	3	4	13	1	0	0	0	0	1	0	0	0	2229	1174	41	3	38	3	C3orf32	3	8661589	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3956777	8661589	189360841	119	3665											
NUP210	23225	genome.wustl.edu	37	chr3	13363225	13363225	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccacctgctctgtggagaAgtggctgctggagagggagg	7	7	17	10	0	1	2	0	0	1	2	1	5	1	3	3	5	2	3	3	5	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:13363225A>C	ENST00000254508.5	-	36	5108	c.5026T>G	c.(5026-5028)Ttc>Gtc	p.F1676V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1676					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCTGTGGAGAAGTGGCTGCTG	0.582																																																	0													141	142	142					3																	13363225		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5026T>G	3.37:g.13363225A>C	ENSP00000254508:p.Phe1676Val		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.F1676V	ENST00000254508.5	37	c.5026	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	A	8.056	0.766974	0.15983	.	.	ENSG00000132182	ENST00000254508	T	0.04551	3.6	5.56	0.0618	0.14342	.	0.443423	0.25984	N	0.027054	T	0.03871	0.0109	L	0.56769	1.78	0.25631	N	0.986302	B	0.16603	0.018	B	0.18871	0.023	T	0.44498	-0.9324	10	0.13470	T	0.59	-1.9439	0.7536	0.00994	0.4425:0.1287:0.1447:0.2841	.	1676	Q8TEM1	PO210_HUMAN	V	1676	ENSP00000254508:F1676V	ENSP00000254508:F1676V	F	-	1	0	NUP210	13338225	0.001000	0.12720	0.003000	0.11579	0.354000	0.29330	0.648000	0.24828	-0.218000	0.10018	0.482000	0.46254	TTC	NUP210	-	NULL	ENSG00000132182		0.582	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	36	0	A	NM_024923		13363225	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.606	C	C	13363225	A	C	13363225	3	2	13	1	0	0	0	0	1	0	0	0	10799	72	3	4	657	4	NUP210	3	13363225	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4701636	13363225	184659205	120	3666											
RAB5A	5868	genome.wustl.edu	37	chr3	20019889	20019889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtaaatgaaatattcatgGcaataggtaagattaatatc	18	13	7	3	0	1	2	1	1	0	1	2	2	1	2	0	2	0	3	0	2	9	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:20019889G>A	ENST00000273047.4	+	5	1062	c.526G>A	c.(526-528)Gca>Aca	p.A176T	RAB5A_ENST00000422242.1_Missense_Mutation_p.A162T	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	176					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						AATATTCATGGCAATAGGTAA	0.303																																																	0													96	103	101					3																	20019889		2203	4294	6497	SO:0001583	missense	0				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"RAB, member RAS oncogene"	9783	protein-coding gene	gene with protein product	"RAS-associated protein RAB5A"	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.526G>A	3.37:g.20019889G>A	ENSP00000273047:p.Ala176Thr		B4DJA5|Q6FI44	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A176T	ENST00000273047.4	37	c.526	CCDS2633.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.072222	0.93950	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	T;T	0.80033	-1.33;-1.33	5.62	5.62	0.85841	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	N	0.12961	0.28	0.80722	D	1	P;P	0.34412	0.453;0.453	B;B	0.40901	0.343;0.343	T	0.69075	-0.5241	9	.	.	.	-16.5841	19.6764	0.95936	0.0:0.0:1.0:0.0	.	162;176	B4DJA5;P20339	.;RAB5A_HUMAN	T	176;162	ENSP00000273047:A176T;ENSP00000411941:A162T	.	A	+	1	0	RAB5A	19994893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.757000	0.98924	2.660000	0.90430	0.655000	0.94253	GCA	RAB5A	-	pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000144566		0.303	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5A	HGNC	protein_coding	OTTHUMT00000252137.2	-	0	47	0	G	NM_004162		20019889	1	tier1	-	no_errors	ENST00000273047	ensembl	human	known	74_37	missense	33.33	34	17	SNP	1.000	A	A	20019889	G	A	20019889	3	1	13	1	0	0	0	0	1	0	0	0	12993	1203	42	3	540	3	RAB5A	3	20019889	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6656664	20019889	178002541	121	3667											
SCN5A	6331	genome.wustl.edu	37	chr3	38591997	38591997	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggccaaggggtcgggagaAgttctcactcatcacgtagg	9	8	15	9	2	3	1	3	0	1	1	5	2	3	1	1	5	0	2	1	5	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:38591997A>C	ENST00000333535.4	-	28	6015	c.5866T>G	c.(5866-5868)Ttc>Gtc	p.F1956V	SCN5A_ENST00000449557.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000455624.2_Missense_Mutation_p.F1923V|SCN5A_ENST00000413689.1_Missense_Mutation_p.F1956V|SCN5A_ENST00000423572.2_Missense_Mutation_p.F1955V|SCN5A_ENST00000451551.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000425664.1_Missense_Mutation_p.F1938V|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.F1902V|SCN5A_ENST00000443581.1_Missense_Mutation_p.F1955V|SCN5A_ENST00000414099.2_Missense_Mutation_p.F1938V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1956					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCGGGAGAAGTTCTCACTC	0.617																																																	0													35	43	41					3																	38591997		2082	4196	6278	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5866T>G	3.37:g.38591997A>C	ENSP00000328968:p.Phe1956Val		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.F1956V	ENST00000333535.4	37	c.5866	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665452	0.47677	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95622	-3.67;-3.7;-3.69;-3.7;-3.7;-3.67;-3.7;-3.76;-3.7;-3.7	4.95	4.95	0.65309	.	0.529472	0.19567	N	0.111197	D	0.82641	0.5081	N	0.00729	-1.24	0.42212	D	0.991814	B;P;B;B;B;B	0.38922	0.354;0.651;0.07;0.243;0.336;0.108	B;B;B;B;B;B	0.32465	0.09;0.115;0.057;0.09;0.146;0.089	D	0.85249	0.1043	10	0.20046	T	0.44	.	14.7759	0.69732	1.0:0.0:0.0:0.0	.	1902;1923;1938;1956;1955;1956	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	V	1938;1955;1956;1902;1955;1938;1956;1923;1902;1902	ENSP00000398962:F1938V;ENSP00000398266:F1955V;ENSP00000410257:F1956V;ENSP00000388797:F1902V;ENSP00000397915:F1955V;ENSP00000416634:F1938V;ENSP00000328968:F1956V;ENSP00000399524:F1923V;ENSP00000403355:F1902V;ENSP00000413996:F1902V	ENSP00000328968:F1956V	F	-	1	0	SCN5A	38567001	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.509000	0.81698	2.080000	0.62538	0.533000	0.62120	TTC	SCN5A	-	NULL	ENSG00000183873		0.617	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	31	0	A	NM_198056		38591997	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	C	C	38591997	A	C	38591997	3	2	13	1	0	0	0	0	1	0	0	0	13967	72	3	4	188	4	SCN5A	3	38591997	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	18572108	38591997	159430433	122	3668											
SCN11A	11280	genome.wustl.edu	37	chr3	38913761	38913761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggacttcaattccattaAgttaatgagggtggtcacag	13	11	11	6	0	2	1	2	1	0	0	3	3	3	2	1	3	0	1	1	3	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:38913761A>G	ENST00000302328.3	-	20	3616	c.3418T>C	c.(3418-3420)Tta>Cta	p.L1140L	SCN11A_ENST00000444237.2_Silent_p.L1140L|SCN11A_ENST00000456224.3_Silent_p.L1102L|SCN11A_ENST00000450244.1_Silent_p.L1140L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1140					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTCCATTAAGTTAATGAGG	0.478																																																	0													106	103	104					3																	38913761		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3418T>C	3.37:g.38913761A>G			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L1140	ENST00000302328.3	37	c.3418	CCDS33737.1	3																																																																																			SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.478	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0	61	0	A	NM_014139		38913761	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.000	G	G	38913761	A	G	38913761	2	3	13	1	0	0	0	0	0	0	0	1	13958	69	3	4		4	SCN11A	3	38913761	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	321764	38913761	159108669	123	3669											
WDR48	57599	genome.wustl.edu	37	chr3	39111206	39111206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacacggataatgtgaagGcattgctattaaacagagat	15	9	11	6	1	0	2	0	1	0	1	0	4	0	3	0	3	2	3	0	3	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:39111206G>T	ENST00000302313.5	+	7	671	c.643G>T	c.(643-645)Gca>Tca	p.A215S	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.A133S|WDR48_ENST00000544962.1_Intron	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	215					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAATGTGAAGGCATTGCTATT	0.373																																																	0													164	152	156					3																	39111206		2203	4300	6503	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.643G>T	3.37:g.39111206G>T	ENSP00000307491:p.Ala215Ser		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A215S	ENST00000302313.5	37	c.643	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728958	0.48833	.	.	ENSG00000114742	ENST00000302313;ENST00000396258;ENST00000441361	T;T;T	0.56444	0.46;0.46;0.46	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052214	0.85682	D	0.000000	T	0.36663	0.0975	N	0.04245	-0.25	0.80722	D	1	B;B;B	0.21753	0.012;0.012;0.06	B;B;B	0.33690	0.05;0.05;0.168	T	0.26087	-1.0113	10	0.09590	T	0.72	-1.7952	19.9915	0.97366	0.0:0.0:1.0:0.0	.	133;206;215	Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	S	215;133;145	ENSP00000307491:A215S;ENSP00000379557:A133S;ENSP00000416900:A145S	ENSP00000307491:A215S	A	+	1	0	WDR48	39086210	1.000000	0.71417	0.900000	0.35374	0.283000	0.27025	7.074000	0.76791	2.723000	0.93209	0.655000	0.94253	GCA	WDR48	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000114742		0.373	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	-	0	92	0	G	NM_020839		39111206	1	tier1	-	no_errors	ENST00000302313	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	39111206	G	T	39111206	3	4	13	1	0	0	0	0	1	0	0	0	17350	1203	42	3	669	3	WDR48	3	39111206	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	197445	39111206	158911224	124	3670											
CYP8B1	1582	genome.wustl.edu	37	chr3	42916054	42916054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttgcctgtcttgaagaAgtccactttccggctgccat	6	14	8	13	1	2	2	0	1	2	1	4	2	4	2	4	1	2	1	4	1	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:42916054A>G	ENST00000316161.4	-	1	1579	c.1255T>C	c.(1255-1257)Ttc>Ctc	p.F419L	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.F419L|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	419					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCTTGAAGAAGTCCACTTTC	0.557																																																	0													123	121	122					3																	42916054		2203	4300	6503	SO:0001583	missense	0			AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"Cytochrome P450s"	2653	protein-coding gene	gene with protein product		602172	"cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1255T>C	3.37:g.42916054A>G	ENSP00000318867:p.Phe419Leu		B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.F419L	ENST00000316161.4	37	c.1255	CCDS2707.1	3	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745160	0.89663	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.75704	-0.49;-0.96	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000002	D	0.84056	0.5388	M	0.63169	1.94	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85851	0.1404	10	0.87932	D	0	-21.2792	14.3732	0.66854	1.0:0.0:0.0:0.0	.	419;419	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	L	419	ENSP00000404499:F419L;ENSP00000318867:F419L	ENSP00000318867:F419L	F	-	1	0	CYP8B1	42891058	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	9.228000	0.95250	2.042000	0.60477	0.379000	0.24179	TTC	CYP8B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000180432		0.557	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP8B1	HGNC	protein_coding	OTTHUMT00000256653.1	-	0	66	0	A	NM_004391		42916054	-1	tier1	-	no_errors	ENST00000316161	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	G	G	42916054	A	G	42916054	3	3	13	1	0	0	0	0	1	0	0	0	4207	72	3	4	254	4	CYP8B1	3	42916054	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3804848	42916054	155106376	125	3671											
ZNF662	389114	genome.wustl.edu	37	chr3	42956638	42956638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggtccacactggggacaAgcctcatgaatgtactgact	11	8	12	10	0	1	2	1	2	0	0	2	4	2	3	2	3	2	1	2	3	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:42956638A>G	ENST00000541208.1	+	5	1442	c.1073A>G	c.(1072-1074)aAg>aGg	p.K358R	ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.K358R|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.K384R			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGGGACAAGCCTCATGAA	0.463																																																	0													86	85	85					3																	42956638		2203	4300	6503	SO:0001583	missense	0			AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"Zinc fingers, C2H2-type", "-"	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.1073A>G	3.37:g.42956638A>G	ENSP00000446208:p.Lys358Arg		A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K384R	ENST00000541208.1	37	c.1151	CCDS2708.1	3	.	.	.	.	.	.	.	.	.	.	A	13.54	2.268829	0.40095	.	.	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208	T;T;T	0.24908	1.83;1.83;1.83	3.27	2.07	0.26955	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.12920	0.275	0.28225	N	0.926355	B;B	0.27823	0.158;0.19	B;B	0.39562	0.201;0.303	T	0.35450	-0.9788	9	0.59425	D	0.04	.	7.0664	0.25154	0.7977:0.0:0.0:0.2023	.	384;358	F8W7S8;Q6ZS27	.;ZN662_HUMAN	R	358;384;358	ENSP00000405047:K358R;ENSP00000329264:K384R;ENSP00000446208:K358R	ENSP00000329264:K384R	K	+	2	0	ZNF662	42931642	0.565000	0.26610	1.000000	0.80357	0.978000	0.69477	1.226000	0.32563	0.453000	0.26858	0.528000	0.53228	AAG	ZNF662	-	pfscan_Znf_C2H2	ENSG00000182983		0.463	ZNF662-201	KNOWN	basic|CCDS	protein_coding	ZNF662	HGNC	protein_coding	OTTHUMT00000256646.4	-	0	29	0	A	NM_207404		42956638	1	tier1	-	no_errors	ENST00000328199	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	G	G	42956638	A	G	42956638	3	3	13	1	0	0	0	0	1	0	0	0	18119	72	3	4	1274	4	ZNF662	3	42956638	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	40584	42956638	155065792	126	3672											
KIF9	64147	genome.wustl.edu	37	chr3	47287002	47287002	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcctgttcctgttggCttgggagacagcaagagaga	9	10	12	10	0	0	3	0	0	0	3	2	5	2	3	3	2	1	4	3	2	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:47287002C>T	ENST00000265529.3	-	15	1970		c.e15-1		KIF9_ENST00000444589.2_Splice_Site|KIF9_ENST00000452770.2_Splice_Site|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_Splice_Site|KIF9_ENST00000335044.2_Splice_Site|KIF9_ENST00000352910.4_Splice_Site			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTCCTGTTGGCTTGGGAGACA	0.507																																					Colon(44;962 1147 15977 24541)												0													162	133	143					3																	47287002		2203	4300	6503	SO:0001630	splice_region_variant	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"Kinesins"	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1290-1G>A	3.37:g.47287002C>T			Q86Z28|Q9H8A4	Splice_Site	SNP	-	e13-1	ENST00000265529.3	37	c.1290-1	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440974	0.83993	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8304	0.85942	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF9	47262006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.515000	0.60489	2.657000	0.90304	0.655000	0.94253	.	KIF9	-	-	ENSG00000088727		0.507	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	-	0	76	0	C		Intron	47287002	-1	tier1	-	no_errors	ENST00000265529	ensembl	human	known	74_37	splice_site	10.42	42	5	SNP	1.000	T	T	47287002	C	T	47287002	5	4	13	1	0	0	0	0	0	0	1	0	8337	811	28	3	1115	3	KIF9	3	47287002	Splice_Site	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4330364	47287002	150735428	127	3673											
PTPN23	25930	genome.wustl.edu	37	chr3	47452795	47452795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacccctatgagcatcctgaGaggctgcggcagttgcagca	9	7	13	12	1	0	2	0	2	0	1	1	4	1	2	3	2	4	6	3	2	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:47452795G>C	ENST00000265562.4	+	20	3584	c.3507G>C	c.(3505-3507)gaG>gaC	p.E1169D	PTPN23_ENST00000431726.1_Missense_Mutation_p.E1043D	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1169					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCATCCTGAGAGGCTGCGGC	0.667																																																	0													26	28	27					3																	47452795		2201	4298	6499	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3507G>C	3.37:g.47452795G>C	ENSP00000265562:p.Glu1169Asp		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E1169D	ENST00000265562.4	37	c.3507	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381435	0.42207	.	.	ENSG00000076201	ENST00000265562	T	0.13901	2.55	4.78	2.87	0.33458	.	0.130931	0.48286	D	0.000183	T	0.07999	0.0200	N	0.24115	0.695	0.41301	D	0.987048	B;B	0.15141	0.012;0.012	B;B	0.12156	0.004;0.007	T	0.17258	-1.0375	10	0.48119	T	0.1	-22.5533	4.6088	0.12391	0.0839:0.1535:0.6037:0.1589	.	1043;1169	B4DST5;Q9H3S7	.;PTN23_HUMAN	D	1169	ENSP00000265562:E1169D	ENSP00000265562:E1169D	E	+	3	2	PTPN23	47427799	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.756000	0.47549	1.213000	0.43380	0.563000	0.77884	GAG	PTPN23	-	NULL	ENSG00000076201		0.667	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	-	0	18	0	G	NM_015466		47452795	1	tier1	-	no_errors	ENST00000265562	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	C	C	47452795	G	C	47452795	3	2	13	1	0	0	0	0	1	0	0	0	12833	933	33	5	3585	5	PTPN23	3	47452795	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	165793	47452795	150569635	128	3674											
UCN2	90226	genome.wustl.edu	37	chr3	48600362	48600362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgcgcgagccagggtggcGggtggggctgcagtggctct	5	7	20	9	3	1	0	0	0	1	0	1	1	1	0	1	6	3	3	1	6	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:48600362G>T	ENST00000273610.3	-	2	278	c.196C>A	c.(196-198)Cgc>Agc	p.R66S	PFKFB4_ENST00000536104.1_5'Flank|COL7A1_ENST00000470076.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	66					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGGGTGGCGGGTGGGGCTG	0.672																																																	0													17	20	19					3																	48600362		2203	4297	6500	SO:0001583	missense	0			AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"Endogenous ligands"	18414	protein-coding gene	gene with protein product	"prepro-urocortin 2"	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.196C>A	3.37:g.48600362G>T	ENSP00000273610:p.Arg66Ser		Q9BUG0	Missense_Mutation	SNP	pfam_Urocortin_II/III	p.R66S	ENST00000273610.3	37	c.196	CCDS2772.1	3	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967615	0.34754	.	.	ENSG00000145040	ENST00000273610	.	.	.	4.93	1.89	0.25635	.	0.199663	0.25241	N	0.032090	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.14090	-1.0485	9	0.46703	T	0.11	-15.6106	5.9681	0.19336	0.1961:0.1632:0.6407:0.0	.	66	Q96RP3	UCN2_HUMAN	S	66	.	ENSP00000273610:R66S	R	-	1	0	UCN2	48575366	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.039000	0.13884	0.646000	0.30693	0.655000	0.94253	CGC	UCN2	-	NULL	ENSG00000145040		0.672	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCN2	HGNC	protein_coding	OTTHUMT00000257510.1		0	47	0	G	NM_033199		48600362	-1			no_errors	ENST00000273610	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.000	T	T	48600362	G	T	48600362	3	4	13	1	0	0	0	0	1	0	0	0	16977	1116	39	2	146	2	UCN2	3	48600362	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1147567	48600362	149422068	129	3675											
DOCK3	1795	genome.wustl.edu	37	chr3	51112836	51112836	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactttgaagtagtggacTcggaccagattagtgtctca	11	11	12	7	1	1	2	1	1	1	1	3	5	1	5	1	3	0	1	1	3	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51112836T>A	ENST00000266037.9	+	7	537	c.514T>A	c.(514-516)Tcg>Acg	p.S172T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	172					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTAGTGGACTCGGACCAGAT	0.408																																																	0													94	93	93					3																	51112836		1903	4119	6022	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.514T>A	3.37:g.51112836T>A	ENSP00000266037:p.Ser172Thr		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.S172T	ENST00000266037.9	37	c.514	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287927	0.59976	.	.	ENSG00000088538	ENST00000266037	T	0.56103	0.48	5.77	4.6	0.57074	.	0.301731	0.37906	N	0.001890	T	0.31513	0.0799	N	0.10916	0.065	0.40827	D	0.983552	B	0.32051	0.354	B	0.26614	0.071	T	0.17319	-1.0373	10	0.42905	T	0.14	.	11.9154	0.52763	0.0:0.0:0.1454:0.8546	.	172	Q8IZD9	DOCK3_HUMAN	T	172	ENSP00000266037:S172T	ENSP00000266037:S172T	S	+	1	0	DOCK3	51087876	1.000000	0.71417	0.963000	0.40424	0.988000	0.76386	2.608000	0.46308	1.107000	0.41642	0.477000	0.44152	TCG	DOCK3	-	NULL	ENSG00000088538		0.408	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	105	0	T	NM_004947		51112836	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	31.76	57	27	SNP	1.000	A	A	51112836	T	A	51112836	3	1	13	1	0	0	0	0	1	0	0	0	4702	1551	54	5	540	5	DOCK3	3	51112836	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2512474	51112836	146909594	130	3676											
RAD54L2	23132	genome.wustl.edu	37	chr3	51624572	51624573	+	Missense_Mutation	DNP	GA	GA	AT																															atgatgaagaagacctgctgGatggtaagtgggctctattg																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:51624572_51624573GA>AT	ENST00000409535.2	+	2	261_262	c.136_137GA>AT	c.(136-138)GAt>ATt	p.D46I		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	46						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGACCTGCTGGATGGTAAGTGG	0.53																																																	0																																										SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	Exception_encountered	3.37:g.51624572_51624573delinsAT	ENSP00000386520:p.Asp46Ile		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D46N|p.D46V	ENST00000409535.2	37	c.136|c.137	CCDS33765.2	3																																																																																			RAD54L2	-	NULL	ENSG00000164080		0.53	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0	103|101	0	G|A	NM_015106		51624572|51624573	1	tier1	-	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	A|T	AT	51624573	GA	AT	51624572	3	1	13	1	0	0	0	0	1	0	0	0	13039	1174	41	3	138	3	RAD54L2	3	51624572	Missense_Mutation	DNP	GA	TCGA-IC-A6RE-01A-11D-A33E-09	511736	51624572	146397858	131	3677											
LRTM1	57408	genome.wustl.edu	37	chr3	54952519	54952519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcaaatcgctctttttcTtccaccttcccaggatcatt	7	16	4	14	1	4	0	2	0	2	0	7	1	6	1	3	1	0	1	3	1	1	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:54952519T>G	ENST00000273286.5	-	3	1167	c.1005A>C	c.(1003-1005)gaA>gaC	p.E335D	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.E259D	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	335						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTCTTTTTCTTCCACCTTCC	0.512																																																	0													183	176	178					3																	54952519		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.1005A>C	3.37:g.54952519T>G	ENSP00000273286:p.Glu335Asp		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E335D	ENST00000273286.5	37	c.1005	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	T	12.43	1.934781	0.34189	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.52295	0.67;0.99	5.48	4.31	0.51392	.	0.637076	0.16454	N	0.213712	T	0.40372	0.1114	M	0.64997	1.995	0.25030	N	0.991273	B	0.10296	0.003	B	0.06405	0.002	T	0.31998	-0.9923	10	0.22109	T	0.4	.	5.8392	0.18625	0.0:0.1082:0.1655:0.7262	.	335	Q9HBL6	LRTM1_HUMAN	D	335;259	ENSP00000273286:E335D;ENSP00000419772:E259D	ENSP00000273286:E335D	E	-	3	2	LRTM1	54927559	0.698000	0.27777	0.129000	0.21949	0.006000	0.05464	0.512000	0.22755	0.892000	0.36259	-0.488000	0.04728	GAA	LRTM1	-	NULL	ENSG00000144771		0.512	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	38	0	T	NM_020678		54952519	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.784	G	G	54952519	T	G	54952519	3	3	13	1	0	0	0	0	1	0	0	0	9079	1606	56	4	36	4	LRTM1	3	54952519	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3327947	54952519	143069911	132	3678											
ABHD6	57406	genome.wustl.edu	37	chr3	58279350	58279350	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggcagacatgttggccaAgtcaattgccaactgccagg	10	8	13	10	0	1	1	1	0	0	1	1	1	1	1	3	4	3	2	3	4	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:58279350A>C	ENST00000478253.1	+	10	1373	c.872A>C	c.(871-873)aAg>aCg	p.K291T	ABHD6_ENST00000295962.4_Missense_Mutation_p.K291T			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	291					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ATGTTGGCCAAGTCAATTGCC	0.512																																																	0													93	85	88					3																	58279350		2203	4300	6503	SO:0001583	missense	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.872A>C	3.37:g.58279350A>C	ENSP00000420315:p.Lys291Thr		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.K291T	ENST00000478253.1	37	c.872	CCDS2887.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.70|12.70	2.015109|2.015109	0.35511|0.35511	.|.	.|.	ENSG00000163686|ENSG00000163686	ENST00000478253;ENST00000295962|ENST00000511761	T;T|.	0.78707|.	-1.2;-1.2|.	5.6|5.6	3.19|3.19	0.36642|0.36642	.|.	0.360834|.	0.35525|.	N|.	0.003146|.	T|T	0.33118|0.33118	0.0852|0.0852	N|N	0.25485|0.25485	0.75|0.75	0.22675|0.22675	N|N	0.998866|0.998866	B|.	0.20550|.	0.046|.	B|.	0.21546|.	0.035|.	T|T	0.20107|0.20107	-1.0285|-1.0285	10|6	0.33940|0.46703	T|T	0.23|0.11	-11.4152|-11.4152	8.148|8.148	0.31124|0.31124	0.6786:0.0:0.3214:0.0|0.6786:0.0:0.3214:0.0	.|.	291|.	Q9BV23|.	ABHD6_HUMAN|.	T|H	291|290	ENSP00000420315:K291T;ENSP00000295962:K291T|.	ENSP00000295962:K291T|ENSP00000442448:Q290H	K|Q	+|+	2|3	0|2	ABHD6|ABHD6	58254390|58254390	0.062000|0.062000	0.20869|0.20869	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.625000|0.625000	0.24477|0.24477	0.393000|0.393000	0.25203|0.25203	0.533000|0.533000	0.62120|0.62120	AAG|CAA	ABHD6	-	pfam_AB_hydrolase_1,pfam_Ndr	ENSG00000163686		0.512	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	-	0	55	0	A	NM_020676		58279350	1	tier1	-	no_errors	ENST00000295962	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.288	C	C	58279350	A	C	58279350	3	2	13	1	0	0	0	0	1	0	0	0	86	72	3	4	902	4	ABHD6	3	58279350	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3326831	58279350	139743080	133	3679											
FHIT	2272	genome.wustl.edu	37	chr3	59999794	59999794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccactgtcccgactctcTgggtcgtctgaaacaaatcg	9	9	8	15	3	2	1	0	1	2	0	6	2	3	1	3	1	1	0	3	1	2	0	rs142297072	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:59999794T>C	ENST00000468189.1	-	6	558	c.188A>G	c.(187-189)cAg>cGg	p.Q63R	FHIT_ENST00000466788.1_5'UTR|FHIT_ENST00000476844.1_Missense_Mutation_p.Q63R|FHIT_ENST00000492590.1_Missense_Mutation_p.Q63R|FHIT_ENST00000341848.4_Missense_Mutation_p.Q63R			P49789	FHIT_HUMAN	fragile histidine triad	63	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CCCGACTCTCTGGGTCGTCTG	0.512			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				T|||	3	0.000599042	0.0023	0	5008	,	,		19208	0		0	False		,,,				2504	0							Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0								T	ARG/GLN,ARG/GLN	13,4393	20.2+/-43.8	0,13,2190	98	96	97		188,188	6	1	3	dbSNP_134	97	0,8600		0,0,4300	yes	missense,missense	FHIT	NM_001166243.1,NM_002012.2	43,43	0,13,6490	CC,CT,TT		0.0,0.2951,0.1	possibly-damaging,possibly-damaging	63/148,63/148	59999794	13,12993	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"fragile histidine triad gene"			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.188A>G	3.37:g.59999794T>C	ENSP00000417480:p.Gln63Arg		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	p.Q63R	ENST00000468189.1	37	c.188	CCDS2894.1	3	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	11.26	1.586924	0.28268	0.002951	0.0	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.056610	0.64402	D	0.000001	D	0.89030	0.6599	L	0.37466	1.105	0.51767	D	0.999938	B	0.25772	0.134	B	0.34093	0.175	D	0.85194	0.1011	9	.	.	.	-1.7492	15.0195	0.71617	0.0:0.0:0.0:1.0	.	63	P49789	FHIT_HUMAN	R	63	ENSP00000418582:Q63R;ENSP00000417557:Q63R;ENSP00000417480:Q63R;ENSP00000342087:Q63R;ENSP00000418596:Q63R	.	Q	-	2	0	FHIT	59974834	1.000000	0.71417	0.997000	0.53966	0.055000	0.15305	5.016000	0.64041	2.285000	0.76669	0.533000	0.62120	CAG	FHIT	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	ENSG00000189283		0.512	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1		0	55	0	T	NM_002012		59999794	-1			no_errors	ENST00000341848	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	C	C	59999794	T	C	59999794	3	2	13	1	0	0	0	0	1	0	0	0	5899	1580	55	4	271	4	FHIT	3	59999794	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1720444	59999794	138022636	134	3680											
LRIG1	26018	genome.wustl.edu	37	chr3	66434524	66434524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgatgaaaaacacgtcGtcatccggcatgacatgcat	13	9	9	10	3	2	3	2	3	0	0	4	3	3	3	1	1	2	2	1	1	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:66434524G>A	ENST00000273261.3	-	14	2486	c.1962C>T	c.(1960-1962)gaC>gaT	p.D654D	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Intron|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	654	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAAACACGTCGTCATCCGGCA	0.537																																																	0													112	99	103					3																	66434524		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1962C>T	3.37:g.66434524G>A			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D654	ENST00000273261.3	37	c.1962	CCDS33783.1	3																																																																																			LRIG1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144749		0.537	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	-	0	45	0	G	NM_015541		66434524	-1	tier1	-	no_errors	ENST00000273261	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.896	A	A	66434524	G	A	66434524	2	1	13	1	0	0	0	0	0	0	0	1	8979	1136	40	1		1	LRIG1	3	66434524	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6434730	66434524	131587906	135	3681											
PDZRN3	23024	genome.wustl.edu	37	chr3	73673724	73673724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgcagccgcgcgtcgCgtacgcgcacttgatgtcca	5	6	13	17	9	0	1	0	1	0	0	2	1	1	1	4	1	2	3	4	1	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:73673724C>T	ENST00000263666.4	-	1	367	c.253G>A	c.(253-255)Gcg>Acg	p.A85T	PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.A85T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	85					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCGCGCGTCGCGTACGCGCAC	0.716																																																	0																																										SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.253G>A	3.37:g.73673724C>T	ENSP00000263666:p.Ala85Thr		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.A85T	ENST00000263666.4	37	c.253	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067853	0.36470	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.31769	1.48;1.48	4.49	2.62	0.31277	TRAF-like (1);Seven In Absentia Homolog-type (1);	0.222309	0.36778	N	0.002420	T	0.11537	0.0281	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10753	-1.0616	10	0.18710	T	0.47	.	2.6784	0.05086	0.1406:0.4548:0.2885:0.1161	.	85	Q9UPQ7	PZRN3_HUMAN	T	85	ENSP00000263666:A85T;ENSP00000308831:A85T	ENSP00000263666:A85T	A	-	1	0	PDZRN3	73756414	1.000000	0.71417	0.974000	0.42286	0.416000	0.31233	2.309000	0.43699	0.859000	0.35456	0.313000	0.20887	GCG	PDZRN3	-	superfamily_TRAF-like	ENSG00000121440		0.716	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	59	0	C	XM_041363		73673724	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	T	T	73673724	C	T	73673724	3	4	13	1	0	0	0	0	1	0	0	0	11748	768	27	1	2987	1	PDZRN3	3	73673724	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	7239200	73673724	124348706	136	3682											
SENP7	57337	genome.wustl.edu	37	chr3	101090887	101090887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagatattaaaagagaaatgCcatcatcctttcttcgtttt	13	15	5	8	1	2	2	1	0	1	2	4	3	3	2	2	0	1	1	2	0	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:101090887C>T	ENST00000394095.2	-	7	814	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000394094.2_Missense_Mutation_p.G189D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D|SENP7_ENST00000358203.3_Missense_Mutation_p.G90D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	254						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGAAATGCCATCATCCTT	0.343																																																	0													107	102	104					3																	101090887		2203	4300	6503	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.761G>A	3.37:g.101090887C>T	ENSP00000377655:p.Gly254Asp		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G254D	ENST00000394095.2	37	c.761	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.513512	0.00153	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.32;2.32;2.28	4.35	-4.15	0.03881	.	1.171620	0.06365	N	0.712505	T	0.11067	0.0270	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.45629	-0.9248	10	0.05436	T	0.98	8.4904	11.1042	0.48193	0.0:0.5083:0.0:0.4917	.	90;188;221;254	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	D	254;189;188;90;90;221	ENSP00000377655:G254D;ENSP00000377654:G189D;ENSP00000313624:G188D;ENSP00000377651:G90D;ENSP00000350936:G90D;ENSP00000342159:G221D	ENSP00000313624:G188D	G	-	2	0	SENP7	102573577	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.798000	0.04565	-0.799000	0.04439	-1.451000	0.01035	GGC	SENP7	-	NULL	ENSG00000138468		0.343	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	-	0	129	0	C	NM_020654		101090887	-1	tier1	-	no_errors	ENST00000394095	ensembl	human	known	74_37	missense	16.05	68	13	SNP	0.000	T	T	101090887	C	T	101090887	3	4	13	1	0	0	0	0	1	0	0	0	14096	739	26	3	2463	3	SENP7	3	101090887	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	27417163	101090887	96931543	137	3683											
GUCA1C	9626	genome.wustl.edu	37	chr3	108626976	108626976	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactctcagcacattggagaAgtcgaagctcttgtaaacaa	14	10	8	9	1	2	1	1	0	2	1	4	3	2	1	0	1	4	3	0	1	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:108626976A>C	ENST00000261047.3	-	4	655	c.523T>G	c.(523-525)Ttc>Gtc	p.F175V	GUCA1C_ENST00000393963.3_Missense_Mutation_p.L188R	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	175					phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						ACATTGGAGAAGTCGAAGCTC	0.423																																					NSCLC(157;1360 1999 30631 40189 44208)												0													102	97	99					3																	108626976		2203	4300	6503	SO:0001583	missense	0			AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"EF-hand domain containing"	4680	protein-coding gene	gene with protein product	"guanylyl cyclase-activating protein 3"	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.523T>G	3.37:g.108626976A>C	ENSP00000261047:p.Phe175Val		O95844|Q9UNM0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.F175V	ENST00000261047.3	37	c.523	CCDS2954.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.05|11.05	1.525894|1.525894	0.27299|0.27299	.|.	.|.	ENSG00000138472|ENSG00000138472	ENST00000261047|ENST00000393963	T|T	0.69685|0.71579	-0.42|-0.58	4.74|4.74	0.171|0.171	0.15026|0.15026	.|.	0.387651|.	0.26122|.	N|.	0.026207|.	T|T	0.57460|0.57460	0.2055|0.2055	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999997|0.999997	B|B	0.09022|0.28512	0.002|0.214	B|B	0.19666|0.28011	0.026|0.085	T|T	0.48570|0.48570	-0.9024|-0.9024	10|9	0.72032|0.59425	D|D	0.01|0.04	.|.	10.5277|10.5277	0.44958|0.44958	0.2703:0.0:0.7297:0.0|0.2703:0.0:0.7297:0.0	.|.	175|188	O95843|C9JNI2	GUC1C_HUMAN|.	V|R	175|188	ENSP00000261047:F175V|ENSP00000377535:L188R	ENSP00000261047:F175V|ENSP00000377535:L188R	F|L	-|-	1|2	0|0	GUCA1C|GUCA1C	110109666|110109666	1.000000|1.000000	0.71417|0.71417	0.003000|0.003000	0.11579|0.11579	0.724000|0.724000	0.41520|0.41520	1.449000|1.449000	0.35123|0.35123	-0.213000|-0.213000	0.10094|0.10094	-0.230000|-0.230000	0.12252|0.12252	TTC|CTT	GUCA1C	-	NULL	ENSG00000138472		0.423	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	HGNC	protein_coding	OTTHUMT00000353819.1	-	0	55	0	A	NM_005459		108626976	-1	tier1	-	no_errors	ENST00000261047	ensembl	human	known	74_37	missense	40.30	40	27	SNP	0.220	C	C	108626976	A	C	108626976	3	2	13	1	0	0	0	0	1	0	0	0	6917	72	3	4	110	4	GUCA1C	3	108626976	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7536089	108626976	89395454	138	3684											
SLC9A10	285335	genome.wustl.edu	37	chr3	111988862	111988862	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattgaatcagttttgaacTtagaattccaaacaagaaac	19	11	5	6	0	1	4	1	2	0	2	2	4	2	4	1	0	3	1	1	0	8	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:111988862T>G	ENST00000305815.5	-	7	928	c.676A>C	c.(676-678)Agt>Cgt	p.S226R	SLC9C1_ENST00000487372.1_Missense_Mutation_p.S226R	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	226					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGTTTTGAACTTAGAATTCCA	0.308																																																	0													65	71	69					3																	111988862		2203	4292	6495	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.676A>C	3.37:g.111988862T>G	ENSP00000306627:p.Ser226Arg		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S226R	ENST00000305815.5	37	c.676	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	T	12.10	1.837496	0.32513	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.13657	2.57;2.57	5.9	3.4	0.38934	Cation/H+ exchanger (1);	0.711166	0.14006	N	0.347789	T	0.19327	0.0464	L	0.40543	1.245	0.09310	N	1	D;D	0.69078	0.997;0.966	P;P	0.56700	0.804;0.69	T	0.11421	-1.0588	10	0.25751	T	0.34	-0.7475	8.6723	0.34159	0.3034:0.0:0.0:0.6966	.	226;226	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	R	226	ENSP00000306627:S226R;ENSP00000420688:S226R	ENSP00000306627:S226R	S	-	1	0	SLC9A10	113471552	0.000000	0.05858	0.004000	0.12327	0.521000	0.34408	0.230000	0.17852	0.418000	0.25898	0.413000	0.27773	AGT	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	-	0	110	0	T	NM_183061		111988862	-1	tier1	-	no_errors	ENST00000305815	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.006	G	G	111988862	T	G	111988862	3	3	13	1	0	0	0	0	1	0	0	0	14755	1609	56	4	2949	4	SLC9A10	3	111988862	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3361886	111988862	86033568	139	3685											
WDR52	55779	genome.wustl.edu	37	chr3	113015696	113015696	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttaccacacggccaaacTtgctgatcatgagctgccgg	10	9	10	12	2	1	2	1	2	0	0	1	3	1	2	3	2	5	2	3	2	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:113015696T>G	ENST00000393845.2	-	33	5180	c.5114A>C	c.(5113-5115)aAg>aCg	p.K1705T	WDR52_ENST00000308346.6_Missense_Mutation_p.K308T	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACGGCCAAACTTGCTGATCAT	0.423																																																	0													155	129	137					3																	113015696		692	1591	2283	SO:0001583	missense	0																														ENST00000393845.2:c.5114A>C	3.37:g.113015696T>G	ENSP00000377428:p.Lys1705Thr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1705T	ENST00000393845.2	37	c.5114	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.55|18.55	3.647556|3.647556	0.67358|0.67358	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000308346|ENST00000465636	T;T|.	0.44482|.	0.92;0.92|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.187028|.	0.56097|.	D|.	0.000031|.	T|T	0.76314|0.76314	0.3970|0.3970	M|M	0.79258|0.79258	2.445|2.445	0.41880|0.41880	D|D	0.990319|0.990319	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.78059|0.78059	-0.2352|-0.2352	10|5	0.52906|.	T|.	0.07|.	-34.026|-34.026	15.7286|15.7286	0.77784|0.77784	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1705|.	Q96MT7-2|.	.|.	T|H	1705;308|841	ENSP00000377428:K1705T;ENSP00000311497:K308T|.	ENSP00000311497:K308T|.	K|Q	-|-	2|3	0|2	WDR52|WDR52	114498386|114498386	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.466000|0.466000	0.32739|0.32739	5.833000|5.833000	0.69349|0.69349	2.114000|2.114000	0.64651|0.64651	0.459000|0.459000	0.35465|0.35465	AAG|CAA	WDR52	-	NULL	ENSG00000206530		0.423	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		-	0	52	0	T			113015696	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	missense	21.05	44	12	SNP	1.000	G	G	113015696	T	G	113015696	3	3	13	1	0	0	0	0	1	0	0	0	17353	1609	56	4	462	4	WDR52	3	113015696	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1026834	113015696	85006734	140	3686											
POLQ	10721	genome.wustl.edu	37	chr3	121179011	121179011	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacacttgaatgagacgAcgatcatgggataaatgagc	15	10	10	6	2	1	3	1	3	0	1	1	7	1	4	0	1	2	0	0	1	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:121179011A>C	ENST00000264233.5	-	25	7166	c.7038T>G	c.(7036-7038)cgT>cgG	p.R2346R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2346					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAATGAGACGACGATCATGGG	0.458								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													128	114	119					3																	121179011		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7038T>G	3.37:g.121179011A>C			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.R2346	ENST00000264233.5	37	c.7038	CCDS33833.1	3																																																																																			POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom	ENSG00000051341		0.458	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	33	0	A	NM_199420		121179011	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.041	C	C	121179011	A	C	121179011	2	2	13	1	0	0	0	0	0	0	0	1	12247	262	10	4		4	POLQ	3	121179011	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	8163315	121179011	76843419	141	3687											
COL6A5	256076	genome.wustl.edu	37	chr3	130114047	130114047	+	Silent	SNP	A	A	C																															atctacatgctggtgggagaAgaaatgctggtgtcccccaa																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130114047A>C	ENST00000432398.2	+	8	3801	c.3307A>C	c.(3307-3309)Aga>Cga	p.R1103R	COL6A5_ENST00000265379.6_Silent_p.R1103R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1103	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGGTGGGAGAAGAAATGCTGG	0.428																																																	0													109	101	103					3																	130114047		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3307A>C	3.37:g.130114047A>C			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1103	ENST00000432398.2	37	c.3307		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	74	0	A	NM_153264		130114047	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	12.68	62	9	SNP	0.186	C	C	130114047	A	C	130114047	2	2	13	1	0	0	0	0	0	0	0	1	3709	64	3	4		4	COL6A5	3	130114047	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	8935036	130114047	67908383	142	3688	10	2									
COL6A5	256076	genome.wustl.edu	37	chr3	130114055	130114055	+	Silent	SNP	T	T	A																															gctggtgggagaagaaatgcTggtgtcccccaaactttggt																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130114055T>A	ENST00000432398.2	+	8	3809	c.3315T>A	c.(3313-3315)gcT>gcA	p.A1105A	COL6A5_ENST00000265379.6_Silent_p.A1105A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1105	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAAGAAATGCTGGTGTCCCCC	0.438																																																	0													116	106	109					3																	130114055		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3315T>A	3.37:g.130114055T>A			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A1105	ENST00000432398.2	37	c.3315		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	72	0	T	NM_153264		130114055	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	16.67	55	11	SNP	0.383	A	A	130114055	T	A	130114055	2	1	13	1	0	0	0	0	0	0	0	1	3709	1567	55	5		5	COL6A5	3	130114055	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	8	130114055	67908375	143	3689	10	2									
COL6A6	131873	genome.wustl.edu	37	chr3	130300658	130300658	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactgaatagcttgaaggaTataacagttaaaggaccatc	17	10	8	6	0	0	2	0	2	0	0	1	4	0	4	1	2	3	2	1	2	8	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:130300658T>A	ENST00000358511.6	+	8	3832	c.3801T>A	c.(3799-3801)gaT>gaA	p.D1267E	COL6A6_ENST00000453409.2_Missense_Mutation_p.D1267E	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1267	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTTGAAGGATATAACAGTTA	0.393																																																	0													162	157	159					3																	130300658		1898	4103	6001	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3801T>A	3.37:g.130300658T>A	ENSP00000351310:p.Asp1267Glu		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1267E	ENST00000358511.6	37	c.3801	CCDS46911.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.017|0.017	-1.502596|-1.502596	0.00992|0.00992	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000358511;ENST00000453409|ENST00000511332	T;T|.	0.36878|.	1.23;1.23|.	6.06|6.06	-7.95|-7.95	0.01148|0.01148	von Willebrand factor, type A (2);|.	.|.	.|.	.|.	.|.	T|T	0.18882|0.18882	0.0453|0.0453	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|.	0.14438|.	0.01|.	B|.	0.11329|.	0.006|.	T|T	0.28073|0.28073	-1.0055|-1.0055	9|5	0.02654|.	T|.	1|.	.|.	2.2543|2.2543	0.04052|0.04052	0.1721:0.3849:0.1849:0.2581|0.1721:0.3849:0.1849:0.2581	.|.	1267|.	A6NMZ7|.	CO6A6_HUMAN|.	E|K	1267|25	ENSP00000351310:D1267E;ENSP00000399236:D1267E|.	ENSP00000351310:D1267E|.	D|I	+|+	3|2	2|0	COL6A6|COL6A6	131783348|131783348	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.365000|-0.365000	0.07573|0.07573	-0.977000|-0.977000	0.03537|0.03537	-0.899000|-0.899000	0.02877|0.02877	GAT|ATA	COL6A6	-	smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.393	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	32	0	T	NM_001102608		130300658	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.000	A	A	130300658	T	A	130300658	3	1	13	1	0	0	0	0	1	0	0	0	3710	1403	49	5	3831	5	COL6A6	3	130300658	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	186603	130300658	67721772	144	3690											
ACAD11	84129	genome.wustl.edu	37	chr3	132294705	132294705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccaaacctactgttcTcatacagtggtggattctgc	8	13	8	12	1	2	0	1	0	2	0	4	1	3	1	3	2	4	1	3	2	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:132294705T>C	ENST00000264990.6	-	17	2883	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.R163G	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	638					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCTACTGTTCTCATACAGTGG	0.488																																																	0													103	97	99					3																	132294705		2203	4300	6503	SO:0001583	missense	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1912A>G	3.37:g.132294705T>C	ENSP00000264990:p.Arg638Gly		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.R638G	ENST00000264990.6	37	c.1912	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338978	0.81911	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.95885	-3.84;-3.84	5.59	3.05	0.35203	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.97904	0.9311	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98106	1.0417	9	0.87932	D	0	.	11.7116	0.51628	0.0:0.0:0.2795:0.7205	.	638	Q709F0	ACD11_HUMAN	G	638;163	ENSP00000264990:R638G;ENSP00000446263:R163G	ENSP00000264990:R638G	R	-	1	2	ACAD11	133777395	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	1.778000	0.38614	0.910000	0.36722	0.482000	0.46254	AGA	ACAD11	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000240303		0.488	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2		0	63	0	T	NM_032169		132294705	-1			no_errors	ENST00000264990	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	C	C	132294705	T	C	132294705	3	2	13	1	0	0	0	0	1	0	0	0	109	1559	54	4	446	4	ACAD11	3	132294705	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1994047	132294705	65727725	145	3691											
TF	7018	genome.wustl.edu	37	chr3	133485146	133485146	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgctatagcagtggtgaAgaaatcagcttctgacctca	11	13	9	8	0	3	3	2	2	1	1	3	3	3	3	1	1	3	3	1	1	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:133485146A>C	ENST00000402696.3	+	12	1840	c.1355A>C	c.(1354-1356)aAg>aCg	p.K452T	TF_ENST00000264998.3_Missense_Mutation_p.K325T	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	452	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	GCAGTGGTGAAGAAATCAGCT	0.498																																																	0													215	210	211					3																	133485146		2203	4300	6503	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1355A>C	3.37:g.133485146A>C	ENSP00000385834:p.Lys452Thr		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.K452T	ENST00000402696.3	37	c.1355	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	A	15.59	2.877554	0.51801	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.42900	0.96;0.96	4.76	4.76	0.60689	.	0.093045	0.64402	D	0.000001	T	0.75715	0.3887	H	0.97540	4.025	0.54753	D	0.999988	D	0.69078	0.997	D	0.76575	0.988	D	0.84661	0.0706	10	0.87932	D	0	-41.0345	13.8157	0.63290	1.0:0.0:0.0:0.0	.	452	P02787	TRFE_HUMAN	T	452;325	ENSP00000385834:K452T;ENSP00000264998:K325T	ENSP00000264998:K325T	K	+	2	0	TF	134967836	1.000000	0.71417	0.584000	0.28653	0.121000	0.20230	4.295000	0.59049	2.162000	0.67917	0.357000	0.21978	AAG	TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000091513		0.498	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	-	0	44	0	A	NM_001063		133485146	1	tier1	-	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.996	C	C	133485146	A	C	133485146	3	2	13	1	0	0	0	0	1	0	0	0	15832	72	3	4	1401	4	TF	3	133485146	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1190441	133485146	64537284	146	3692											
EPHB1	2047	genome.wustl.edu	37	chr3	134911630	134911630	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcatgatcatcacagagTtcatggagaatggtgcattg	11	12	11	7	0	4	3	4	1	0	2	4	4	4	3	0	2	1	2	0	2	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:134911630T>G	ENST00000398015.3	+	11	2465	c.2095T>G	c.(2095-2097)Ttc>Gtc	p.F699V	EPHB1_ENST00000493838.1_Missense_Mutation_p.F260V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	699	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CATCACAGAGTTCATGGAGAA	0.527																																																	0													109	106	107					3																	134911630		2194	4297	6491	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2095T>G	3.37:g.134911630T>G	ENSP00000381097:p.Phe699Val		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.F699V	ENST00000398015.3	37	c.2095	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792527	0.90453	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.63913	-0.07;-0.07	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80773	0.4687	M	0.84156	2.68	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84048	0.0368	10	0.87932	D	0	.	15.5089	0.75764	0.0:0.0:0.0:1.0	.	699	P54762	EPHB1_HUMAN	V	699;260	ENSP00000381097:F699V;ENSP00000419574:F260V	ENSP00000381097:F699V	F	+	1	0	EPHB1	136394320	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.993000	0.88291	2.076000	0.62316	0.459000	0.35465	TTC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154928		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	68	0	T	NM_004441		134911630	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	G	G	134911630	T	G	134911630	3	3	13	1	0	0	0	0	1	0	0	0	5190	1725	60	4	2137	4	EPHB1	3	134911630	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1426484	134911630	63110800	147	3693											
EPHB1	2047	genome.wustl.edu	37	chr3	134960052	134960052	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaccgcaagttcacttcAgccagcgacgtttggagcta	9	9	10	13	3	2	0	2	0	0	0	2	2	2	1	3	1	4	4	3	1	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:134960052A>G	ENST00000398015.3	+	13	2779	c.2409A>G	c.(2407-2409)tcA>tcG	p.S803S	EPHB1_ENST00000493838.1_Silent_p.S364S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	803	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGTTCACTTCAGCCAGCGACG	0.522																																																	0													195	199	198					3																	134960052		2118	4267	6385	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2409A>G	3.37:g.134960052A>G			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S803	ENST00000398015.3	37	c.2409	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154928		0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	83	0	A	NM_004441		134960052	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	7.14	65	5	SNP	0.413	G	G	134960052	A	G	134960052	2	3	13	1	0	0	0	0	0	0	0	1	5190	175	7	4		4	EPHB1	3	134960052	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	48422	134960052	63062378	148	3694											
ACPL2	92370	genome.wustl.edu	37	chr3	141011698	141011698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggatgcagcgtgccaccgAgggcaggaaagaagagctct	11	4	15	11	3	1	2	0	0	1	2	1	5	1	4	3	3	4	3	3	3	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:141011698A>G	ENST00000286353.4	+	6	1231	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	ACPL2_ENST00000504264.1_Missense_Mutation_p.E348G|ACPL2_ENST00000508812.1_Missense_Mutation_p.E356G|ACPL2_ENST00000502783.1_Missense_Mutation_p.E327G|ACPL2_ENST00000393007.1_Missense_Mutation_p.E349G|ACPL2_ENST00000393010.2_Missense_Mutation_p.E365G|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		365						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGTGCCACCGAGGGCAGGAAA	0.552																																																	0													152	115	127					3																	141011698		2203	4300	6503	SO:0001583	missense	0																														ENST00000286353.4:c.1094A>G	3.37:g.141011698A>G	ENSP00000286353:p.Glu365Gly		D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.E365G	ENST00000286353.4	37	c.1094	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416293	0.25552	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007;ENST00000332228	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.48	-1.37	0.09056	.	0.625902	0.17771	N	0.162583	T	0.14657	0.0354	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.11817	-1.0572	10	0.32370	T	0.25	.	1.8905	0.03246	0.4157:0.2594:0.0741:0.2508	.	348;365	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	G	365;327;365;348;356;349;173	ENSP00000286353:E365G;ENSP00000422558:E327G;ENSP00000376733:E365G;ENSP00000426877:E348G;ENSP00000422901:E356G;ENSP00000376731:E349G	ENSP00000286353:E365G	E	+	2	0	ACPL2	142494388	0.005000	0.15991	0.001000	0.08648	0.785000	0.44390	0.684000	0.25364	-0.219000	0.10003	0.533000	0.62120	GAG	ACPL2	-	pfam_His_Pase_superF_clade-2	ENSG00000155893		0.552	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	HGNC	protein_coding	OTTHUMT00000359533.2	-	0	46	0	A			141011698	1	tier1	-	no_errors	ENST00000286353	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.014	G	G	141011698	A	G	141011698	3	3	13	1	0	0	0	0	1	0	0	0	166	304	11	4	1112	4	ACPL2	3	141011698	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	6051646	141011698	57010732	149	3695											
CP	1356	genome.wustl.edu	37	chr3	148897347	148897347	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatttgtattttaccttaActtgatccacagttgaataa	13	17	5	6	0	0	3	0	3	0	0	1	3	1	3	2	0	2	2	2	0	5	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:148897347A>C	ENST00000264613.6	-	15	2919	c.2657T>G	c.(2656-2658)gTt>gGt	p.V886G		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	886	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTTACCTTAACTTGATCCAC	0.383																																																	0													91	82	85					3																	148897347		2203	4300	6503	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2657T>G	3.37:g.148897347A>C	ENSP00000264613:p.Val886Gly		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.V886G	ENST00000264613.6	37	c.2657	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	A	19.58	3.853804	0.71719	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.98901	-5.22;-5.22;-5.22	5.71	5.71	0.89125	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.184800	0.47852	D	0.000204	D	0.98839	0.9608	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.993;0.997;0.999;0.998	D	0.99858	1.1079	10	0.52906	T	0.07	-27.4413	15.9877	0.80174	1.0:0.0:0.0:0.0	.	886;886;886;599	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	G	21;886;669	ENSP00000420367:V21G;ENSP00000264613:V886G;ENSP00000420545:V669G	ENSP00000264613:V886G	V	-	2	0	CP	150380037	0.322000	0.24634	1.000000	0.80357	0.966000	0.64601	4.322000	0.59215	2.165000	0.68154	0.455000	0.32223	GTT	CP	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000047457		0.383	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	-	0	58	0	A	NM_000096		148897347	-1	tier1	-	no_errors	ENST00000264613	ensembl	human	known	74_37	missense	15.25	49	9	SNP	1.000	C	C	148897347	A	C	148897347	3	2	13	1	0	0	0	0	1	0	0	0	3794	43	2	4	560	4	CP	3	148897347	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7885649	148897347	49125083	150	3696											
MED12L	116931	genome.wustl.edu	37	chr3	151082990	151082990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgggccatcaggatgctGgcaggtgagatgggttaccc	8	9	16	8	0	1	1	1	1	0	1	1	3	1	2	2	5	2	4	2	5	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:151082990G>A	ENST00000474524.1	+	20	3114	c.3076G>A	c.(3076-3078)Ggc>Agc	p.G1026S	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G886S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1026						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGGATGCTGGCAGGTGAGA	0.458																																																	0													117	106	110					3																	151082990		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3076G>A	3.37:g.151082990G>A	ENSP00000417235:p.Gly1026Ser		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G1026S	ENST00000474524.1	37	c.3076	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963503	0.74016	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.28454	1.61;1.61	5.6	4.73	0.59995	.	0.107922	0.64402	D	0.000005	T	0.19644	0.0472	N	0.14661	0.345	0.80722	D	1	P;B;B	0.44521	0.837;0.0;0.001	B;B;B	0.38755	0.281;0.001;0.002	T	0.04115	-1.0976	10	0.51188	T	0.08	-13.8449	14.3491	0.66688	0.0721:0.0:0.9279:0.0	.	886;1025;1026	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	S	1026;886	ENSP00000417235:G1026S;ENSP00000273432:G886S	ENSP00000273432:G886S	G	+	1	0	MED12L	152565680	1.000000	0.71417	0.895000	0.35142	0.967000	0.64934	4.347000	0.59373	1.493000	0.48517	0.650000	0.86243	GGC	MED12L	-	NULL	ENSG00000144893		0.458	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0	30	0	G	NM_053002		151082990	1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.996	A	A	151082990	G	A	151082990	3	1	13	1	0	0	0	0	1	0	0	0	9467	1348	47	3	3154	3	MED12L	3	151082990	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2185643	151082990	46939440	151	3697											
IGSF10	285313	genome.wustl.edu	37	chr3	151165478	151165478	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctggcatagcattctttTtagctttctccaacagtgcc	7	16	7	11	0	3	0	0	0	3	0	4	0	3	0	2	1	4	3	2	1	3	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:151165478T>G	ENST00000282466.3	-	4	2290	c.2291A>C	c.(2290-2292)aAa>aCa	p.K764T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	764					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATTCTTTTTAGCTTTCTC	0.493																																																	0													83	77	79					3																	151165478		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2291A>C	3.37:g.151165478T>G	ENSP00000282466:p.Lys764Thr		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K764T	ENST00000282466.3	37	c.2291	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840045	0.71488	.	.	ENSG00000152580	ENST00000282466	T	0.73047	-0.71	5.41	4.26	0.50523	.	0.000000	0.50627	D	0.000102	T	0.80623	0.4658	M	0.68952	2.095	0.40159	D	0.977048	D	0.89917	1.0	D	0.74674	0.984	T	0.81258	-0.1014	10	0.59425	D	0.04	.	10.8621	0.46833	0.0:0.0737:0.0:0.9263	.	764	Q6WRI0	IGS10_HUMAN	T	764	ENSP00000282466:K764T	ENSP00000282466:K764T	K	-	2	0	IGSF10	152648168	1.000000	0.71417	0.978000	0.43139	0.715000	0.41141	2.122000	0.41987	0.905000	0.36596	0.482000	0.46254	AAA	IGSF10	-	NULL	ENSG00000152580		0.493	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	53	0	T	NM_178822		151165478	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	G	G	151165478	T	G	151165478	3	3	13	1	0	0	0	0	1	0	0	0	7624	1841	64	4	5640	4	IGSF10	3	151165478	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	82488	151165478	46856952	152	3698											
AADACL2	344752	genome.wustl.edu	37	chr3	151451827	151451827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggaaaaagggatattatgGggctaaaagctctctgtttg	12	12	12	5	0	1	0	0	0	1	0	2	2	1	2	0	4	1	3	0	4	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:151451827G>T	ENST00000356517.3	+	1	113	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	2						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGATATTATGGGGCTAAAAGC	0.383																																																	0													318	258	277					3																	151451827		692	1591	2283	SO:0001583	missense	0			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.4G>T	3.37:g.151451827G>T	ENSP00000348911:p.Gly2Trp		Q5HYJ4	Missense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.G2W	ENST00000356517.3	37	c.4	CCDS3161.2	3	.	.	.	.	.	.	.	.	.	.	G	6.960	0.547086	0.13312	.	.	ENSG00000197953	ENST00000356517	T	0.06528	3.29	5.17	2.39	0.29439	.	.	.	.	.	T	0.15869	0.0382	L	0.50333	1.59	0.09310	N	1	D	0.71674	0.998	D	0.72075	0.976	T	0.10200	-1.0640	9	0.54805	T	0.06	0.525	7.0797	0.25223	0.1618:0.0:0.6985:0.1397	.	2	Q6P093	ADCL2_HUMAN	W	2	ENSP00000348911:G2W	ENSP00000348911:G2W	G	+	1	0	AADACL2	152934517	0.894000	0.30519	0.027000	0.17364	0.000000	0.00434	1.012000	0.29924	0.082000	0.17018	-2.067000	0.00394	GGG	AADACL2	-	pirsf_Arylacetamide_deacetylase	ENSG00000197953		0.383	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	HGNC	protein_coding	OTTHUMT00000342288.3		0	110	0	G	NM_207365		151451827	1			no_errors	ENST00000356517	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.045	T	T	151451827	G	T	151451827	3	4	13	1	0	0	0	0	1	0	0	0	11	1232	43	3	6	3	AADACL2	3	151451827	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	286349	151451827	46570603	153	3699											
P2RY1	5028	genome.wustl.edu	37	chr3	152554205	152554205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctcagacgagtacctgCgaagttatttcatctacagc	11	10	7	13	2	3	1	2	0	1	1	3	3	3	1	3	0	4	2	3	0	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:152554205C>T	ENST00000305097.3	+	1	1470	c.634C>T	c.(634-636)Cga>Tga	p.R212*	RP11-38P22.2_ENST00000460407.1_lincRNA	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	212					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.R212*(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CGAGTACCTGCGAAGTTATTT	0.512																																																	1	Substitution - Nonsense(1)	large_intestine(1)											169	154	159					3																	152554205		2203	4300	6503	SO:0001587	stop_gained	0			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.634C>T	3.37:g.152554205C>T	ENSP00000304767:p.Arg212*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn	p.R212*	ENST00000305097.3	37	c.634	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	C	44	11.252287	0.99537	.	.	ENSG00000169860	ENST00000305097	.	.	.	5.57	3.61	0.41365	.	0.071981	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	13.3084	0.60365	0.5161:0.4839:0.0:0.0	.	.	.	.	X	212	.	ENSP00000304767:R212X	R	+	1	2	P2RY1	154036895	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.417000	0.44653	1.274000	0.44362	0.655000	0.94253	CGA	P2RY1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169860		0.512	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1		0	55	0	C	NM_002563		152554205	1			no_errors	ENST00000305097	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	152554205	C	T	152554205	4	4	13	1	0	0	0	0	0	1	0	0	11385	760	27	1	636	1	P2RY1	3	152554205	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1102378	152554205	45468225	154	3700											
PHC3	80012	genome.wustl.edu	37	chr3	169824725	169824725	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactcactgtccatttctTctaatgtctctaaaaaagaa	14	13	4	10	0	4	1	1	0	3	1	6	1	5	1	1	0	1	1	1	0	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:169824725T>G	ENST00000494943.1	-	12	2395	c.2327A>C	c.(2326-2328)gAa>gCa	p.E776A	PHC3_ENST00000495893.2_Missense_Mutation_p.E788A|PHC3_ENST00000467570.1_Missense_Mutation_p.E735A			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	776					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GTCCATTTCTTCTAATGTCTC	0.343																																																	0													83	75	77					3																	169824725		1812	4072	5884	SO:0001583	missense	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2327A>C	3.37:g.169824725T>G	ENSP00000420271:p.Glu776Ala		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.E788A	ENST00000494943.1	37	c.2363		3	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172619	0.57584	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T	0.33865	1.39;1.39	6.06	6.06	0.98353	Zinc finger, FCS-type (1);	0.241754	0.36234	N	0.002719	T	0.28400	0.0702	L	0.33485	1.01	0.80722	D	1	P;B;P	0.36535	0.557;0.005;0.557	B;B;B	0.35971	0.215;0.004;0.12	T	0.08452	-1.0721	10	0.48119	T	0.1	-11.5936	10.8862	0.46968	0.0:0.0696:0.0:0.9304	.	735;776;788	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	A	776;788;735	ENSP00000420271:E776A;ENSP00000420294:E788A	ENSP00000419089:E735A	E	-	2	0	PHC3	171307419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.307000	0.51888	2.323000	0.78572	0.528000	0.53228	GAA	PHC3	-	pfscan_Znf_FCS	ENSG00000173889		0.343	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	-	0	104	0	T	NM_024947		169824725	-1	tier1	-	no_errors	ENST00000495893	ensembl	human	known	74_37	missense	5.56	102	6	SNP	1.000	G	G	169824725	T	G	169824725	3	3	13	1	0	0	0	0	1	0	0	0	11857	1783	62	4	640	4	PHC3	3	169824725	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	17270520	169824725	28197705	155	3701											
PIK3CA	5290	genome.wustl.edu	37	chr3	178916946	178916946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcaaccgtgaagaaaaGatcctcaatcgagaaattgg	16	7	11	7	2	1	4	1	1	0	3	3	5	2	4	2	2	1	2	2	2	7	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:178916946G>T	ENST00000263967.3	+	2	490	c.333G>T	c.(331-333)aaG>aaT	p.K111N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTGAAGAAAAGATCCTCAATC	0.328		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	16	Substitution - Missense(12)|Deletion - In frame(3)|Complex - deletion inframe(1)	breast(8)|large_intestine(3)|endometrium(3)|lung(2)											82	78	79					3																	178916946		1820	4070	5890	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.333G>T	3.37:g.178916946G>T	ENSP00000263967:p.Lys111Asn		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111N	ENST00000263967.3	37	c.333	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140160	0.56936	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76709	0.89;-1.04	5.52	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.78637	2.42	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	D	0.86015	0.1503	9	.	.	.	-23.7658	10.9773	0.47473	0.1444:0.0:0.8556:0.0	.	111	P42336	PK3CA_HUMAN	N	111	ENSP00000263967:K111N;ENSP00000417479:K111N	.	K	+	3	2	PIK3CA	180399640	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.950000	0.40323	2.584000	0.87258	0.555000	0.69702	AAG	PIK3CA	-	NULL	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	35	0	G			178916946	1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T	T	178916946	G	T	178916946	3	4	13	1	0	0	0	0	1	0	0	0	11952	933	33	3	335	3	PIK3CA	3	178916946	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	9092221	178916946	19105484	156	3702											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	106	0	G			178936091	1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	11.71	97	13	SNP	1.000	A	A	178936091	G	A	178936091	3	1	13	1	0	0	0	0	1	0	0	0	11952	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	19145	178936091	19086339	157	3703											
MCF2L2	23101	genome.wustl.edu	37	chr3	183097179	183097179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaacgtgatgatgggggCgccatcctcccctcggcctc	5	8	14	14	3	0	2	0	2	0	0	4	3	2	3	5	4	1	0	5	4	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:183097179C>T	ENST00000328913.3	-	3	478	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A61T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A61T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A61T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	61	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATGATGGGGGCGCCATCCTCC	0.512																																																	0													99	85	90					3																	183097179		2203	4300	6503	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.181G>A	3.37:g.183097179C>T	ENSP00000328118:p.Ala61Thr		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A61T	ENST00000328913.3	37	c.181	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966673	0.74131	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.19	5.19	0.71726	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	L	0.56769	1.78	0.35624	D	0.809706	D;D;D	0.89917	0.987;0.976;1.0	P;P;D	0.75484	0.474;0.674;0.986	T	0.82458	-0.0447	10	0.66056	D	0.02	.	17.8387	0.88709	0.0:1.0:0.0:0.0	.	61;61;61	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	T	61;61;61;61;33	ENSP00000328118:A61T;ENSP00000420070:A61T;ENSP00000388190:A61T;ENSP00000414131:A61T;ENSP00000417345:A33T	ENSP00000328118:A61T	A	-	1	0	MCF2L2	184579873	0.999000	0.42202	0.981000	0.43875	0.396000	0.30629	4.054000	0.57434	2.580000	0.87095	0.655000	0.94253	GCC	MCF2L2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000053524		0.512	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	-	0	89	0	C	NM_015078		183097179	-1	tier1	-	no_errors	ENST00000328913	ensembl	human	known	74_37	missense	27.63	53	21	SNP	0.997	T	T	183097179	C	T	183097179	3	4	13	1	0	0	0	0	1	0	0	0	9418	768	27	1	3275	1	MCF2L2	3	183097179	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4161088	183097179	14925251	158	3704											
ECE2	9718	genome.wustl.edu	37	chr3	183976133	183976133	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacttctgctgcccccCactttcggaccagacactat	9	10	6	16	1	1	2	0	1	1	1	2	3	1	3	4	1	2	1	4	1	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:183976133C>A	ENST00000402825.3	+	2	480				ECE2_ENST00000324557.4_Missense_Mutation_p.H180N|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2						brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGCCCCCCACTTTCGGAC	0.547																																																	0													139	135	136					3																	183976133		2203	4300	6503	SO:0001627	intron_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.480+589C>A	3.37:g.183976133C>A			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12	p.H180N	ENST00000402825.3	37	c.538	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331664	0.41297	.	.	ENSG00000145194	ENST00000324557	T	0.62232	0.04	5.13	5.13	0.70059	.	.	.	.	.	T	0.77685	0.4167	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	T	0.78420	-0.2211	8	0.49607	T	0.09	.	17.323	0.87241	0.0:1.0:0.0:0.0	.	180	O60344-4	.	N	180	ENSP00000314295:H180N	ENSP00000314295:H180N	H	+	1	0	ECE2	185458827	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	4.231000	0.58639	2.663000	0.90544	0.655000	0.94253	CAC	ECE2	-	NULL	ENSG00000145194		0.547	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3		0	95	0	C	NM_014693		183976133	1			no_errors	ENST00000324557	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	183976133	C	A	183976133	1	1	13	0	1	0	0	0	0	0	0	0	4904	594	21	3		3	ECE2	3	183976133	Intron	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	878954	183976133	14046297	159	3705											
FAM131A	131408	genome.wustl.edu	37	chr3	184056194	184056194	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtcctcggaccccgcttgGgctgtggagtggatcgaact	5	10	15	11	3	0	0	0	0	0	0	3	4	1	3	3	4	1	2	3	4	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:184056194G>A	ENST00000310585.4	+	0	0				FAM131A_ENST00000383847.2_Nonsense_Mutation_p.W36*|FAM131A_ENST00000450976.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000497070.1_3'UTR|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000453072.1_5'Flank			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCCCGCTTGGGCTGTGGAGT	0.582																																																	0													70	75	73					3																	184056194		692	1591	2283	SO:0001631	upstream_gene_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206		3.37:g.184056194G>A	Exception_encountered		D3DNT6|G5E9B1|Q8TA84	Nonsense_Mutation	SNP	NULL	p.W36*	ENST00000310585.4	37	c.108		3	.	.	.	.	.	.	.	.	.	.	G	35	5.456963	0.96223	.	.	ENSG00000175182	ENST00000383847	.	.	.	4.32	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	7.9697	0.30119	0.1175:0.0:0.8825:0.0	.	.	.	.	X	36	.	ENSP00000373360:W36X	W	+	3	0	FAM131A	185538888	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.591000	0.53986	0.794000	0.33899	0.313000	0.20887	TGG	FAM131A	-	NULL	ENSG00000175182		0.582	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	-	0	65	0	G	NM_144635		184056194	1	tier1	-	no_errors	ENST00000383847	ensembl	human	known	74_37	nonsense	7.14	51	4	SNP	1.000	A	A	184056194	G	A	184056194	1	1	13	0	1	0	0	0	0	0	0	0	5458	1241	43	3		3	FAM131A	3	184056194	5'Flank	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	80061	184056194	13966236	160	3706											
KNG1	3827	genome.wustl.edu	37	chr3	186440291	186440291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctccgtggctacccaGacctgccagattactccagg	10	9	8	14	1	1	2	0	0	1	2	3	2	2	2	5	2	3	1	5	2	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:186440291G>T	ENST00000265023.4	+	3	584	c.372G>T	c.(370-372)caG>caT	p.Q124H	KNG1_ENST00000447445.1_Missense_Mutation_p.Q124H|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.Q124H	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	124	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.Q124H(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGGCTACCCAGACCTGCCAGA	0.493																																																	2	Substitution - Missense(2)	lung(2)											113	101	105					3																	186440291		2203	4300	6503	SO:0001583	missense	0				CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"Endogenous ligands"	6383	protein-coding gene	gene with protein product	"alpha-2-thiol proteinase inhibitor", "bradykinin"	612358	"kininogen"	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.372G>T	3.37:g.186440291G>T	ENSP00000265023:p.Gln124His		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen	p.Q124H	ENST00000265023.4	37	c.372	CCDS43183.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367758	0.42003	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.12879	2.64;2.64;2.64	4.67	4.67	0.58626	Proteinase inhibitor I25, cystatin (1);	0.000000	0.56097	D	0.000040	T	0.36690	0.0976	M	0.76328	2.33	0.43088	D	0.994753	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.10543	-1.0625	10	0.56958	D	0.05	-6.0015	13.7929	0.63152	0.0:0.0:1.0:0.0	.	124;124	P01042;P01042-2	KNG1_HUMAN;.	H	124;124;124;112	ENSP00000287611:Q124H;ENSP00000265023:Q124H;ENSP00000396025:Q124H	ENSP00000265023:Q124H	Q	+	3	2	KNG1	187922985	1.000000	0.71417	0.997000	0.53966	0.098000	0.18820	2.024000	0.41049	2.523000	0.85059	0.561000	0.74099	CAG	KNG1	-	smart_Prot_inh_cystat	ENSG00000113889		0.493	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KNG1	HGNC	protein_coding	OTTHUMT00000317738.1	-	0	102	0	G	NM_001102416		186440291	1	tier1	-	no_errors	ENST00000265023	ensembl	human	known	74_37	missense	6.02	77	5	SNP	1.000	T	T	186440291	G	T	186440291	3	4	13	1	0	0	0	0	1	0	0	0	8454	933	33	3	382	3	KNG1	3	186440291	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2384097	186440291	11582139	161	3707											
ACAP2	23527	genome.wustl.edu	37	chr3	195063340	195063340	+	Frame_Shift_Del	DEL	C	C	-																															attttctttttcttcactgaCtttttcgaattgcttcttgg																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:195063340delC	ENST00000326793.6	-	6	618	c.388delG	c.(388-390)gtcfs	p.V130fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	130	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TCTTCACTGACTTTTTCGAAT	0.313																																																	0													142	128	132					3																	195063340		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.388delG	3.37:g.195063340delC	ENSP00000324287:p.Val130fs		A8K2V4|Q8N5Z8|Q9UQR3	Frame_Shift_Del	DEL	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.V130fs	ENST00000326793.6	37	c.388	CCDS33924.1	3																																																																																			ACAP2	-	NULL	ENSG00000114331		0.313	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2		0	50	0	C	NM_012287		195063340	-1	tier1		no_errors	ENST00000326793	ensembl	human	known	74_37	frame_shift_del	20.34	47	12	DEL	1.000	-	-	195063340	C	-	195063340	7	5	13	1	0	1	0	1	0	0	0	0	119	565	20	0	2020	0	ACAP2	3	195063340	Frame_Shift_Del	DEL	C	TCGA-IC-A6RE-01A-11D-A33E-09	8623049	195063340	2959090	162	3708											
TNK2	10188	genome.wustl.edu	37	chr3	195594074	195594074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccctctgcacgctccagCcgtggcactgcagggccgcc	5	5	12	19	3	1	0	0	0	1	0	2	0	2	0	5	2	4	4	5	2	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:195594074C>A	ENST00000333602.6	-	13	3565	c.2948G>T	c.(2947-2949)gGc>gTc	p.G983V	TNK2_ENST00000428187.1_Intron|TNK2_ENST00000392400.1_Missense_Mutation_p.G983V|TNK2_ENST00000381916.2_Intron	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	983	UBA.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CACGCTCCAGCCGTGGCACTG	0.672																																																	0													40	45	43					3																	195594074		2203	4300	6503	SO:0001583	missense	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2948G>T	3.37:g.195594074C>A	ENSP00000329425:p.Gly983Val		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G983V	ENST00000333602.6	37	c.2948	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916869	0.33815	.	.	ENSG00000061938	ENST00000333602;ENST00000416152;ENST00000392400	T;T;T	0.74737	-0.87;1.76;-0.87	5.67	3.83	0.44106	.	.	.	.	.	T	0.69305	0.3096	L	0.55481	1.735	0.80722	D	1	B;B	0.27910	0.03;0.193	B;B	0.30029	0.024;0.11	T	0.70475	-0.4861	9	0.87932	D	0	.	10.4826	0.44702	0.0:0.7925:0.1333:0.0742	.	983;510	Q07912;B3KXJ4	ACK1_HUMAN;.	V	983;552;983	ENSP00000329425:G983V;ENSP00000398614:G552V;ENSP00000376201:G983V	ENSP00000329425:G983V	G	-	2	0	TNK2	197078471	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.878000	0.39608	1.352000	0.45808	0.655000	0.94253	GGC	TNK2	-	superfamily_UBA-like	ENSG00000061938		0.672	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	-	0	59	0	C	NM_005781		195594074	-1	tier1	-	no_errors	ENST00000333602	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.921	A	A	195594074	C	A	195594074	3	1	13	1	0	0	0	0	1	0	0	0	16365	739	26	3	180	3	TNK2	3	195594074	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	530734	195594074	2428356	163	3709											
MFI2	4241	genome.wustl.edu	37	chr3	196753571	196753571	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccggcttcaggccgtgCtcctttcccgcctcatagat	6	10	8	17	3	2	1	2	0	0	1	4	1	4	1	6	2	1	2	6	2	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr3:196753571C>T	ENST00000296350.5	-	3	377	c.264G>A	c.(262-264)gaG>gaA	p.E88E	MFI2_ENST00000296351.4_Silent_p.E88E	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	88	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TCAGGCCGTGCTCCTTTCCCG	0.622																																																	0													99	83	89					3																	196753571		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.264G>A	3.37:g.196753571C>T			Q9BQE2	Silent	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E88	ENST00000296350.5	37	c.264	CCDS3325.1	3																																																																																			MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000163975		0.622	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	-	0	44	0	C			196753571	-1	tier1	-	no_errors	ENST00000296350	ensembl	human	known	74_37	silent	29.03	22	9	SNP	0.012	T	T	196753571	C	T	196753571	2	4	13	1	0	0	0	0	0	0	0	1	9560	796	28	3		3	MFI2	3	196753571	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1159497	196753571	1268859	164	3710											
RNF4	6047	genome.wustl.edu	37	chr4	2498812	2498812	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctccacccccgagatcTccttggaagcagaacccata	12	6	6	17	1	1	2	0	0	1	2	3	4	2	3	6	1	3	1	6	1	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:2498812T>G	ENST00000511600.1	+	3	1603	c.88T>G	c.(88-90)Tcc>Gcc	p.S30A	RNF4_ENST00000511843.1_3'UTR|RNF4_ENST00000506706.1_Missense_Mutation_p.S30A|RNF4_ENST00000511859.1_Missense_Mutation_p.S30A|RNF4_ENST00000541204.1_Missense_Mutation_p.S30A|RNF4_ENST00000314289.8_Missense_Mutation_p.S30A|RNF4_ENST00000509258.1_Missense_Mutation_p.S30A			P78317	RNF4_HUMAN	ring finger protein 4	30	Mediates interaction with TRPS1. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CCCCGAGATCTCCTTGGAAGC	0.507																																																	0													58	58	58					4																	2498812		1902	4113	6015	SO:0001583	missense	0			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"RING-type (C3HC4) zinc fingers"	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.88T>G	4.37:g.2498812T>G	ENSP00000426503:p.Ser30Ala		B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S30A	ENST00000511600.1	37	c.88	CCDS47001.1	4	.	.	.	.	.	.	.	.	.	.	T	7.348	0.622237	0.14193	.	.	ENSG00000063978	ENST00000504224;ENST00000314289;ENST00000536449;ENST00000541204;ENST00000502316;ENST00000507247;ENST00000509258;ENST00000511859;ENST00000506706;ENST00000511600;ENST00000513450	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.52	0.554	0.17241	.	0.462803	0.23756	N	0.044866	T	0.12263	0.0298	N	0.00760	-1.21	0.22457	N	0.999089	B;B;B	0.14438	0.01;0.001;0.0	B;B;B	0.15052	0.012;0.004;0.0	T	0.34153	-0.9840	9	.	.	.	-15.6614	9.7238	0.40320	0.1093:0.0:0.7054:0.1853	.	30;30;30	D6RF58;D6RBZ1;P78317	.;.;RNF4_HUMAN	A	30	ENSP00000315212:S30A;ENSP00000446369:S30A;ENSP00000423100:S30A;ENSP00000424076:S30A;ENSP00000426503:S30A	.	S	+	1	0	RNF4	2468610	1.000000	0.71417	0.993000	0.49108	0.331000	0.28603	1.124000	0.31320	0.153000	0.19213	0.459000	0.35465	TCC	RNF4	-	NULL	ENSG00000063978		0.507	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RNF4	HGNC	protein_coding	OTTHUMT00000360920.1	-	0	107	0	T	NM_002938		2498812	1	tier1	-	no_errors	ENST00000314289	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.984	G	G	2498812	T	G	2498812	3	3	13	1	0	0	0	0	1	0	0	0	13537	1551	54	4	94	4	RNF4	4	2498812	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09		2498812	188655464	165	3711											
STX18	53407	genome.wustl.edu	37	chr4	4422615	4422615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtcttcgttgccttcCttgatattttcagttgcccc	4	19	6	12	1	2	1	1	1	1	0	4	1	3	1	4	0	2	2	4	0	2	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:4422615C>A	ENST00000306200.2	-	10	951	c.888G>T	c.(886-888)aaG>aaT	p.K296N	STX18_ENST00000505286.1_Missense_Mutation_p.K296N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	296	t-SNARE coiled-coil homology.				ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CGTTGCCTTCCTTGATATTTT	0.493																																																	0													317	245	269					4																	4422615		2203	4300	6503	SO:0001583	missense	0			AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.888G>T	4.37:g.4422615C>A	ENSP00000305810:p.Lys296Asn		Q596L3|Q5TZP5	Missense_Mutation	SNP	pfam_Syntaxin-18_N	p.K296N	ENST00000306200.2	37	c.888	CCDS3377.1	4	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036687	0.54896	.	.	ENSG00000168818	ENST00000505286;ENST00000306200	T;T	0.25414	1.8;1.82	4.89	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	L	0.55213	1.73	0.80722	D	1	P	0.52577	0.954	P	0.50754	0.649	T	0.01587	-1.1318	10	0.37606	T	0.19	-4.0E-4	8.6736	0.34165	0.0:0.5357:0.0:0.4643	.	296	Q9P2W9	STX18_HUMAN	N	296	ENSP00000426648:K296N;ENSP00000305810:K296N	ENSP00000305810:K296N	K	-	3	2	STX18	4473516	1.000000	0.71417	0.992000	0.48379	0.939000	0.58152	1.513000	0.35823	0.139000	0.18822	0.561000	0.74099	AAG	STX18	-	NULL	ENSG00000168818		0.493	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX18	HGNC	protein_coding	OTTHUMT00000206696.1	-	0	134	0	C			4422615	-1	tier1	-	no_errors	ENST00000306200	ensembl	human	known	74_37	missense	18.03	49	11	SNP	0.999	A	A	4422615	C	A	4422615	3	1	13	1	0	0	0	0	1	0	0	0	15388	680	24	3	127	3	STX18	4	4422615	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1923803	4422615	186731661	166	3712											
AFAP1	60312	genome.wustl.edu	37	chr4	7795508	7795508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggacgatcccgtctctgCgagtaaaatcccaatccacc	10	9	8	14	3	1	0	0	0	1	0	5	3	4	1	4	1	1	1	4	1	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:7795508C>T	ENST00000360265.4	-	10	1546	c.1312G>A	c.(1312-1314)Gca>Aca	p.A438T	AFAP1_ENST00000382543.3_Missense_Mutation_p.A438T|AFAP1_ENST00000358461.2_Missense_Mutation_p.A438T|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000420658.1_Missense_Mutation_p.A438T			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	438	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCCGTCTCTGCGAGTAAAATC	0.453																																																	0													152	150	151					4																	7795508		2203	4300	6503	SO:0001583	missense	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1312G>A	4.37:g.7795508C>T	ENSP00000353402:p.Ala438Thr		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A438T	ENST00000360265.4	37	c.1312	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519809	0.64634	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16196	2.43;2.36;2.43;2.36	5.67	4.81	0.61882	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;P	0.97110	1.0;0.836	T	0.45716	-0.9242	10	0.72032	D	0.01	-19.0962	15.8437	0.78871	0.1368:0.8632:0.0:0.0	.	438;438	E9PDT7;Q8N556	.;AFAP1_HUMAN	T	438	ENSP00000353402:A438T;ENSP00000410689:A438T;ENSP00000351245:A438T;ENSP00000371983:A438T	ENSP00000351245:A438T	A	-	1	0	AFAP1	7846408	1.000000	0.71417	0.536000	0.28039	0.017000	0.09413	5.275000	0.65575	1.353000	0.45828	0.557000	0.71058	GCA	AFAP1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000196526		0.453	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0	68	0	C	NM_021638		7795508	-1	tier1	-	no_errors	ENST00000420658	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	7795508	C	T	7795508	3	4	13	1	0	0	0	0	1	0	0	0	353	768	27	1	1164	1	AFAP1	4	7795508	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3372893	7795508	183358768	167	3713											
NKX3-2	579	genome.wustl.edu	37	chr4	13544075	13544075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgccgcccccgccgcCggccccgctgcacagcgcgg	2	2	13	24	8	0	0	0	0	0	0	0	0	0	0	8	2	3	3	8	2	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:13544075C>T	ENST00000382438.5	-	2	1179	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	182	Poly-Gly.				determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G182R(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						cccccgccgccggccccgctg	0.756																																																	1	Substitution - Missense(1)	lung(1)											6	7	6					4																	13544075		1312	3017	4329	SO:0001583	missense	0			AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"Homeoboxes / ANTP class : NKL subclass"	951	protein-coding gene	gene with protein product		602183	"bagpipe homeobox homolog 1 (Drosophila)"	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.544G>A	4.37:g.13544075C>T	ENSP00000371875:p.Gly182Ser		Q2M2I7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G182S	ENST00000382438.5	37	c.544	CCDS3410.1	4	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251584	0.59212	.	.	ENSG00000109705	ENST00000382438	D	0.93019	-3.15	5.31	2.54	0.30619	.	0.625206	0.13419	N	0.389295	D	0.82522	0.5055	N	0.14661	0.345	0.09310	N	1	B	0.20550	0.046	B	0.11329	0.006	T	0.67284	-0.5709	10	0.09338	T	0.73	.	5.3428	0.15992	0.1624:0.665:0.0:0.1725	.	182	P78367	NKX32_HUMAN	S	182	ENSP00000371875:G182S	ENSP00000371875:G182S	G	-	1	0	NKX3-2	13153173	0.000000	0.05858	0.156000	0.22583	0.427000	0.31564	0.281000	0.18810	0.574000	0.29417	0.561000	0.74099	GGC	NKX3-2	-	NULL	ENSG00000109705		0.756	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX3-2	HGNC	protein_coding	OTTHUMT00000207317.3	-	0	37	0	C			13544075	-1	tier1	-	no_errors	ENST00000382438	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.015	T	T	13544075	C	T	13544075	3	4	13	1	0	0	0	0	1	0	0	0	10495	652	23	1	461	1	NKX3-2	4	13544075	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	5748567	13544075	177610201	168	3714											
BOD1L	259282	genome.wustl.edu	37	chr4	13605188	13605188	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgttcagggatcaaTgtcatatcaccactcttttt	8	16	7	10	0	6	0	4	0	2	0	6	1	6	1	1	2	0	2	1	2	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:13605188T>A	ENST00000040738.5	-	10	3471	c.3336A>T	c.(3334-3336)acA>acT	p.T1112T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1112						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAGGGATCAATGTCATATCAC	0.413																																																	0													126	127	127					4																	13605188		2203	4300	6503	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3336A>T	4.37:g.13605188T>A			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.T1112	ENST00000040738.5	37	c.3336	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.413	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	46	0	T	NM_148894		13605188	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.000	A	A	13605188	T	A	13605188	2	1	13	1	0	0	0	0	0	0	0	1	1485	1451	51	5		5	BOD1L	4	13605188	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	61113	13605188	177549088	169	3715											
WDR19	57728	genome.wustl.edu	37	chr4	39233547	39233547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggagaattggaaatgttGgcatagtgatgtccttggaa	12	12	13	4	1	0	2	0	1	0	1	2	5	1	4	1	4	0	2	1	4	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:39233547G>T	ENST00000399820.3	+	18	2267	c.2113G>T	c.(2113-2115)Ggc>Tgc	p.G705C	WDR19_ENST00000288634.7_Missense_Mutation_p.G545C|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	705					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGGAAATGTTGGCATAGTGAT	0.358																																																	0													170	162	164					4																	39233547		1889	4123	6012	SO:0001583	missense	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.2113G>T	4.37:g.39233547G>T	ENSP00000382717:p.Gly705Cys		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G705C	ENST00000399820.3	37	c.2113	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552783	0.86127	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.87412	-2.25;-2.25	5.33	5.33	0.75918	.	0.097934	0.64402	D	0.000001	D	0.91476	0.7309	M	0.87547	2.89	0.80722	D	1	P	0.47762	0.9	P	0.47626	0.552	D	0.92304	0.5852	10	0.51188	T	0.08	-17.3403	19.0053	0.92848	0.0:0.0:1.0:0.0	.	705	Q8NEZ3	WDR19_HUMAN	C	705;545	ENSP00000382717:G705C;ENSP00000288634:G545C	ENSP00000288634:G545C	G	+	1	0	WDR19	38909942	1.000000	0.71417	0.951000	0.38953	0.803000	0.45373	9.332000	0.96446	2.490000	0.84030	0.491000	0.48974	GGC	WDR19	-	NULL	ENSG00000157796		0.358	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1		0	167	0	G			39233547	1			no_errors	ENST00000399820	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	39233547	G	T	39233547	3	4	13	1	0	0	0	0	1	0	0	0	17328	1348	47	3	2183	3	WDR19	4	39233547	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	25628359	39233547	151920729	170	3716											
LIMCH1	22998	genome.wustl.edu	37	chr4	41652620	41652620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaactctgttccccaagagCtcgcagtaagaaccaaacat	15	7	6	13	1	1	2	0	0	1	2	3	2	2	2	3	0	4	4	3	0	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:41652620C>T	ENST00000313860.7	+	13	1930	c.1876C>T	c.(1876-1878)Ctc>Ttc	p.L626F	LIMCH1_ENST00000512820.1_Missense_Mutation_p.L614F|LIMCH1_ENST00000381753.4_Missense_Mutation_p.L460F|LIMCH1_ENST00000512946.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000509277.1_Missense_Mutation_p.L460F|LIMCH1_ENST00000511496.1_Missense_Mutation_p.L467F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000503057.1_Missense_Mutation_p.L1011F|LIMCH1_ENST00000514096.1_Missense_Mutation_p.L467F|LIMCH1_ENST00000513024.1_Missense_Mutation_p.L455F|LIMCH1_ENST00000512632.1_Missense_Mutation_p.L626F|LIMCH1_ENST00000396595.3_Missense_Mutation_p.L472F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	626					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCCCCAAGAGCTCGCAGTAAG	0.448																																																	0													70	59	63					4																	41652620		2203	4300	6503	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1876C>T	4.37:g.41652620C>T	ENSP00000316891:p.Leu626Phe		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L1011F	ENST00000313860.7	37	c.3031	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	C	9.749	1.166931	0.21621	.	.	ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.83;1.39;1.39;1.39;0.82;1.42;0.79;0.8;0.8;0.8;0.81;0.8	4.98	-1.04	0.10068	.	1.507890	0.03794	N	0.263365	T	0.63954	0.2555	M	0.68593	2.085	0.09310	N	1	P;P;D;P;P;D;P;D;P;P;D	0.76494	0.604;0.604;0.978;0.508;0.508;0.999;0.725;0.973;0.833;0.896;0.96	B;B;P;P;B;D;P;P;P;P;P	0.69824	0.418;0.352;0.806;0.5;0.382;0.966;0.622;0.742;0.451;0.653;0.634	T	0.51252	-0.8729	10	0.62326	D	0.03	0.0218	6.8706	0.24119	0.0:0.5085:0.2292:0.2624	.	377;460;626;460;472;1011;455;614;626;626;626	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	F	455;626;626;626;626;614;1011;467;1010;467;460;472;460	ENSP00000425222:L455F;ENSP00000424825:L626F;ENSP00000424645:L626F;ENSP00000316891:L626F;ENSP00000427045:L626F;ENSP00000424437:L614F;ENSP00000425631:L1011F;ENSP00000421242:L467F;ENSP00000426334:L467F;ENSP00000422864:L460F;ENSP00000379840:L472F;ENSP00000371172:L460F	ENSP00000316891:L626F	L	+	1	0	LIMCH1	41347377	0.000000	0.05858	0.002000	0.10522	0.630000	0.37929	0.264000	0.18497	-0.125000	0.11703	0.650000	0.86243	CTC	LIMCH1	-	NULL	ENSG00000064042		0.448	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	-	0	41	0	C	NM_014988		41652620	1	tier1	-	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.002	T	T	41652620	C	T	41652620	3	4	13	1	0	0	0	0	1	0	0	0	8826	797	28	3	1954	3	LIMCH1	4	41652620	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2419073	41652620	149501656	171	3717											
NFXL1	152518	genome.wustl.edu	37	chr4	47857176	47857176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcatctatgaccacaaGgaagctaaaataaaatcaaa	19	9	5	8	0	2	1	1	1	1	0	2	2	2	2	1	1	2	2	1	1	8	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:47857176G>T	ENST00000507489.1	-	20	2497	c.2321C>A	c.(2320-2322)cCt>cAt	p.P774H	NFXL1_ENST00000381538.3_Missense_Mutation_p.P774H	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	774						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATGACCACAAGGAAGCTAAAA	0.353																																																	0													91	88	89					4																	47857176		2203	4297	6500	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2321C>A	4.37:g.47857176G>T	ENSP00000422037:p.Pro774His		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.P774H	ENST00000507489.1	37	c.2321	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976649	0.74360	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	T;T	0.29142	1.58;1.58	5.9	5.9	0.94986	.	0.293497	0.34314	N	0.004077	T	0.50446	0.1616	M	0.75884	2.315	0.80722	D	1	D	0.54397	0.966	P	0.52672	0.706	T	0.45264	-0.9273	10	0.46703	T	0.11	-14.0287	19.9278	0.97110	0.0:0.0:1.0:0.0	.	774	Q6ZNB6	NFXL1_HUMAN	H	774	ENSP00000370949:P774H;ENSP00000422037:P774H	ENSP00000370949:P774H	P	-	2	0	NFXL1	47551933	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.586000	0.67503	2.817000	0.96982	0.479000	0.44913	CCT	NFXL1	-	NULL	ENSG00000170448		0.353	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	-	0	36	0	G	NM_152995		47857176	-1	tier1	-	no_errors	ENST00000381538	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	47857176	G	T	47857176	3	4	13	1	0	0	0	0	1	0	0	0	10427	1000	35	3	430	3	NFXL1	4	47857176	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6204556	47857176	143297100	172	3718											
USP46	64854	genome.wustl.edu	37	chr4	53470744	53470744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtgtttctgtgttgctGaagtctctgtagaggaaaat	10	14	11	6	0	2	2	0	1	2	1	3	3	2	3	0	1	1	4	0	1	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:53470744G>A	ENST00000441222.3	-	6	829	c.645C>T	c.(643-645)ttC>ttT	p.F215F	USP46_ENST00000451218.2_Silent_p.F188F|USP46_ENST00000508499.1_Silent_p.F208F	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	215	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CTGTGTTGCTGAAGTCTCTGT	0.343																																																	0													132	120	124					4																	53470744		1828	4083	5911	SO:0001819	synonymous_variant	0			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.645C>T	4.37:g.53470744G>A			B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.F215	ENST00000441222.3	37	c.645	CCDS47053.1	4																																																																																			USP46	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000109189		0.343	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	HGNC	protein_coding	OTTHUMT00000361516.2	-	0	122	0	G	NM_022832		53470744	-1	tier1	-	no_errors	ENST00000441222	ensembl	human	known	74_37	silent	26.25	59	21	SNP	1.000	A	A	53470744	G	A	53470744	2	1	13	1	0	0	0	0	0	0	0	1	17126	1281	45	3		3	USP46	4	53470744	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5613568	53470744	137683532	173	3719											
SRP72	6731	genome.wustl.edu	37	chr4	57350944	57350944	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccagtttacagtcccaaAgtcccgagcatctcttacct	9	11	6	15	1	1	0	0	0	1	0	4	1	3	0	4	0	4	2	4	0	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:57350944A>T	ENST00000342756.5	+	10	1721	c.1000A>T	c.(1000-1002)Agt>Tgt	p.S334C	SRP72_ENST00000510663.1_Missense_Mutation_p.S273C	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	334					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ACAGTCCCAAAGTCCCGAGCA	0.413																																																	0													119	111	114					4																	57350944		2203	4300	6503	SO:0001583	missense	0			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1000A>T	4.37:g.57350944A>T	ENSP00000342181:p.Ser334Cys		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S334C	ENST00000342756.5	37	c.1000	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598678	0.66332	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.77098	-1.07;1.12	5.62	4.37	0.52481	.	0.219308	0.56097	D	0.000030	T	0.61337	0.2339	N	0.08118	0	0.37158	D	0.902479	P;B;D	0.54601	0.956;0.333;0.967	P;B;P	0.49012	0.575;0.264;0.598	T	0.65524	-0.6147	10	0.39692	T	0.17	.	5.2941	0.15743	0.7301:0.1806:0.0893:0.0	.	273;334;334	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	C	334;279;273;95	ENSP00000342181:S334C;ENSP00000424576:S273C	ENSP00000342181:S334C	S	+	1	0	SRP72	57045701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.837000	0.69381	2.124000	0.65301	0.533000	0.62120	AGT	SRP72	-	NULL	ENSG00000174780		0.413	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7		0	97	0	A			57350944	1			no_errors	ENST00000342756	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	57350944	A	T	57350944	3	4	13	1	0	0	0	0	1	0	0	0	15204	72	3	5	1038	5	SRP72	4	57350944	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3880200	57350944	133803332	174	3720											
G3BP2	9908	genome.wustl.edu	37	chr4	76572306	76572306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatagcgaattattctacGgttgtcagagtcattctgtt	9	16	10	6	2	4	1	2	0	2	1	4	3	4	2	0	2	2	2	0	2	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:76572306G>A	ENST00000359707.4	-	10	1749	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	G3BP2_ENST00000395719.3_Missense_Mutation_p.R322C|G3BP2_ENST00000357854.3_Missense_Mutation_p.R289C	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	322					cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATTATTCTACGGTTGTCAGAG	0.348																																																	0													107	107	107					4																	76572306		2203	4299	6502	SO:0001583	missense	0			AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"RNA binding motif (RRM) containing"	30291	protein-coding gene	gene with protein product	"Ras-GTPase activating protein SH3 domain-binding protein 2"					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.964C>T	4.37:g.76572306G>A	ENSP00000352738:p.Arg322Cys		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.R322C	ENST00000359707.4	37	c.964	CCDS3571.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092281	0.76756	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.79940	-1.32;-1.32;-1.28	6.04	4.29	0.51040	.	0.043950	0.85682	N	0.000000	D	0.87055	0.6082	M	0.69358	2.11	0.80722	D	1	B;D	0.89917	0.003;1.0	B;D	0.71414	0.003;0.973	D	0.87045	0.2143	10	0.72032	D	0.01	.	11.4467	0.50127	0.0649:0.0:0.8089:0.1263	.	289;322	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	C	322;322;289	ENSP00000379069:R322C;ENSP00000352738:R322C;ENSP00000350518:R289C	ENSP00000350518:R289C	R	-	1	0	G3BP2	76791330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.950000	0.56676	0.861000	0.35504	0.561000	0.74099	CGT	G3BP2	-	NULL	ENSG00000138757		0.348	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	G3BP2	HGNC	protein_coding	OTTHUMT00000252399.2	-	0	15	0	G	NM_012297		76572306	-1	tier1	-	no_errors	ENST00000359707	ensembl	human	known	74_37	missense	38.46	8	5	SNP	1.000	A	A	76572306	G	A	76572306	3	1	13	1	0	0	0	0	1	0	0	0	6166	1116	39	1	496	1	G3BP2	4	76572306	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	19221362	76572306	114581970	175	3721											
SHROOM3	57619	genome.wustl.edu	37	chr4	77652020	77652020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctggggagaagcaaccCgatgccagcatgatgcagat	14	6	12	9	1	1	3	0	1	1	2	1	5	1	3	2	2	5	3	2	2	3	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:77652020C>T	ENST00000296043.6	+	4	1472	c.519C>T	c.(517-519)ccC>ccT	p.P173P	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	173					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGAAGCAACCCGATGCCAGCA	0.562																																																	0													198	178	185					4																	77652020		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.519C>T	4.37:g.77652020C>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P173	ENST00000296043.6	37	c.519	CCDS3579.2	4																																																																																			SHROOM3	-	NULL	ENSG00000138771		0.562	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0	66	0	C	NM_020859		77652020	1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.000	T	T	77652020	C	T	77652020	2	4	13	1	0	0	0	0	0	0	0	1	14340	639	23	1		1	SHROOM3	4	77652020	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1079714	77652020	113502256	176	3722											
IBSP	3381	genome.wustl.edu	37	chr4	88731763	88731763	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatatttttaacaggagacTtcaaatgaaggagaaaacaa	20	9	8	4	0	1	3	1	1	0	2	1	6	1	3	0	2	2	0	0	2	8	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:88731763T>G	ENST00000226284.5	+	6	319	c.252T>G	c.(250-252)acT>acG	p.T84T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	84	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AACAGGAGACTTCAAATGAAG	0.348																																																	0													62	66	65					4																	88731763		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.252T>G	4.37:g.88731763T>G				Silent	SNP	pfam_BSP_II	p.T84	ENST00000226284.5	37	c.252	CCDS3624.1	4																																																																																			IBSP	-	pfam_BSP_II	ENSG00000029559		0.348	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	-	0	100	0	T			88731763	1	tier1	-	no_errors	ENST00000226284	ensembl	human	known	74_37	silent	30.49	57	25	SNP	1.000	G	G	88731763	T	G	88731763	2	3	13	1	0	0	0	0	0	0	0	1	7502	1596	56	4		4	IBSP	4	88731763	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	11079743	88731763	102422513	177	3723											
GRID2	2895	genome.wustl.edu	37	chr4	94343959	94343959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtctctgaaaatgtcttggGtaagccgaagaaataccagg	13	9	12	7	1	2	2	0	1	2	1	3	3	2	2	2	3	2	1	2	3	6	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:94343959G>A	ENST00000282020.4	+	10	1643	c.1385G>A	c.(1384-1386)gGt>gAt	p.G462D	GRID2_ENST00000510992.1_Missense_Mutation_p.G367D	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	462				G -> C (in Ref. 1; AAC39579). {ECO:0000305}.	cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AATGTCTTGGGTAAGCCGAAG	0.383																																																	0													97	97	97					4																	94343959		2203	4300	6503	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1385G>A	4.37:g.94343959G>A	ENSP00000282020:p.Gly462Asp		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G462D	ENST00000282020.4	37	c.1385	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617517	0.87359	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.11169	2.8;2.8	5.23	5.23	0.72850	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.99;0.997	T	0.00544	-1.1679	10	0.41790	T	0.15	.	18.8133	0.92068	0.0:0.0:1.0:0.0	.	367;462	E9PH24;O43424	.;GRID2_HUMAN	D	462;367	ENSP00000282020:G462D;ENSP00000421257:G367D	ENSP00000282020:G462D	G	+	2	0	GRID2	94562982	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.864000	0.99589	2.438000	0.82558	0.650000	0.86243	GGT	GRID2	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000152208		0.383	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0	112	0	G			94343959	1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	22.22	63	18	SNP	1.000	A	A	94343959	G	A	94343959	3	1	13	1	0	0	0	0	1	0	0	0	6799	1261	44	3	1423	3	GRID2	4	94343959	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5612196	94343959	96810317	178	3724											
RRH	10692	genome.wustl.edu	37	chr4	110756540	110756541	+	Frame_Shift_Ins	INS	-	-	T																															ggtttatgctggattgaataINSttttttttggaatggcaagc																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:110756540_110756541insT	ENST00000317735.4	+	3	350_351	c.316_317insT	c.(316-318)attfs	p.I106fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	106					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TGGATTGAATATTTTTTTTGGA	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"GPCR / Class A : Opsin receptors"	10450	protein-coding gene	gene with protein product	"peropsin"	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.324dupT	4.37:g.110756548_110756548dupT	ENSP00000314992:p.Ile106fs		A1A4V2|Q7RTS4	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	p.G109fs	ENST00000317735.4	37	c.316_317	CCDS3687.1	4																																																																																			RRH	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	ENSG00000180245		0.391	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1		0	59	0	-	NM_006583		110756541	1	tier1		no_errors	ENST00000317735	ensembl	human	known	74_37	frame_shift_ins	5.56	34	2	INS	1.000:1.000	T	T	110756541	-	T	110756540	7	5	13	1	0	1	1	0	0	0	0	0	13725	449	16	0	326	0	RRH	4	110756540	Frame_Shift_Ins	INS	-	TCGA-IC-A6RE-01A-11D-A33E-09	16412581	110756540	80397736	179	3725											
NDST3	9348	genome.wustl.edu	37	chr4	119036076	119036076	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttccacaatgagtcatcTttggtggagcagatgattct	9	14	9	9	0	4	3	1	2	3	1	5	4	5	4	1	2	1	1	1	2	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:119036076T>C	ENST00000296499.5	+	4	1588	c.1185T>C	c.(1183-1185)tcT>tcC	p.S395S	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	395	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGAGTCATCTTTGGTGGAGC	0.428																																																	0													134	124	128					4																	119036076		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1185T>C	4.37:g.119036076T>C			B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S395	ENST00000296499.5	37	c.1185	CCDS3708.1	4																																																																																			NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.428	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0	216	0	T	NM_004784		119036076	1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	silent	22.10	141	40	SNP	0.138	C	C	119036076	T	C	119036076	2	2	13	1	0	0	0	0	0	0	0	1	10296	1596	56	4		4	NDST3	4	119036076	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	8279536	119036076	72118200	180	3726											
KIAA1109	84162	genome.wustl.edu	37	chr4	123188104	123188104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagagagaaaaggcaaaaGagcaagaaggtgtcttttgc	18	6	12	5	0	1	4	0	0	1	4	1	5	1	4	0	2	2	2	0	2	7	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:123188104G>A	ENST00000264501.4	+	46	7857	c.7484G>A	c.(7483-7485)aGa>aAa	p.R2495K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R2495K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R2495K			Q2LD37	K1109_HUMAN	KIAA1109	2495					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGGCAAAAGAGCAAGAAGG	0.363																																																	0													91	85	87					4																	123188104		1850	4089	5939	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.7484G>A	4.37:g.123188104G>A	ENSP00000264501:p.Arg2495Lys		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.R2495K	ENST00000264501.4	37	c.7484	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.21|11.21	1.570700|1.570700	0.28003|0.28003	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.22134	.|2.55;2.55;1.97	5.95|5.95	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.56097	.|U	.|0.000037	T|T	0.12050|0.12050	0.0293|0.0293	N|N	0.08118|0.08118	0|0	0.31377|0.31377	N|N	0.679466|0.679466	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.001	T|T	0.06516|0.06516	-1.0822|-1.0822	5|10	.|0.23891	.|T	.|0.37	.|.	15.1316|15.1316	0.72530|0.72530	0.0676:0.0:0.9324:0.0|0.0676:0.0:0.9324:0.0	.|.	.|2495;2494;2495	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	K|K	1068|2495	.|ENSP00000264501:R2495K;ENSP00000373390:R2495K;ENSP00000389925:R2495K	.|ENSP00000264501:R2495K	E|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123407554|123407554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.824000|0.824000	0.46624|0.46624	4.626000|4.626000	0.61269|0.61269	1.532000|1.532000	0.49169|0.49169	-0.142000|-0.142000	0.14014|0.14014	GAG|AGA	KIAA1109	-	NULL	ENSG00000138688		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	39	0	G	NM_020797		123188104	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	A	A	123188104	G	A	123188104	3	1	13	1	0	0	0	0	1	0	0	0	8235	942	33	3	7658	3	KIAA1109	4	123188104	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4152028	123188104	67966172	181	3727											
MFSD8	256471	genome.wustl.edu	37	chr4	128886250	128886250	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccaggtgtgtcgcctaaGagcggctcctgttcactttc	5	13	10	13	2	1	1	1	0	0	1	5	1	3	1	3	2	1	2	3	2	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:128886250G>C	ENST00000296468.3	-	2	166	c.39C>G	c.(37-39)ctC>ctG	p.L13L	C4orf29_ENST00000444616.1_5'Flank|MFSD8_ENST00000513559.1_Intron|C4orf29_ENST00000398965.1_5'Flank|MFSD8_ENST00000541133.1_Intron|C4orf29_ENST00000388795.5_5'Flank|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	13					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.L13L(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TGTCGCCTAAGAGCGGCTCCT	0.622																																																	1	Substitution - coding silent(1)	cervix(1)											67	61	63					4																	128886250		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.39C>G	4.37:g.128886250G>C			B2RDM1|B7Z205|Q8N2P3	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L13	ENST00000296468.3	37	c.39	CCDS3736.1	4																																																																																			MFSD8	-	NULL	ENSG00000164073		0.622	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	-	0	118	0	G	NM_152778		128886250	-1	tier1	-	no_errors	ENST00000296468	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.007	C	C	128886250	G	C	128886250	2	2	13	1	0	0	0	0	0	0	0	1	9576	929	33	5		5	MFSD8	4	128886250	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5698146	128886250	62268026	182	3728											
SLC7A11	23657	genome.wustl.edu	37	chr4	139153457	139153457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgagcttgatcgcaagttCagggatttcacattgaataa	14	12	9	6	1	2	3	2	3	0	0	3	4	2	4	0	1	1	3	0	1	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:139153457C>T	ENST00000280612.5	-	3	763	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	162					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATCGCAAGTTCAGGGATTTCA	0.358																																																	0													73	72	72					4																	139153457		2203	4300	6503	SO:0001583	missense	0			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.484G>A	4.37:g.139153457C>T	ENSP00000280612:p.Glu162Lys		A8K2U4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.E162K	ENST00000280612.5	37	c.484	CCDS3742.1	4	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473137	0.43942	.	.	ENSG00000151012	ENST00000280612	D	0.89485	-2.52	5.64	4.8	0.61643	Amino acid permease domain (1);	0.472228	0.25122	N	0.032964	D	0.84488	0.5483	L	0.52011	1.625	0.42116	D	0.991403	B	0.02656	0.0	B	0.10450	0.005	T	0.78502	-0.2179	10	0.09084	T	0.74	.	14.5678	0.68191	0.0:0.9297:0.0:0.0703	.	162	Q9UPY5	XCT_HUMAN	K	162	ENSP00000280612:E162K	ENSP00000280612:E162K	E	-	1	0	SLC7A11	139372907	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.230000	0.51286	1.396000	0.46663	0.655000	0.94253	GAA	SLC7A11	-	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000151012		0.358	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	-	0	57	0	C			139153457	-1	tier1	-	no_errors	ENST00000280612	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.996	T	T	139153457	C	T	139153457	3	4	13	1	0	0	0	0	1	0	0	0	14739	835	29	3	1061	3	SLC7A11	4	139153457	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	10267207	139153457	52000819	183	3729											
TBC1D9	23158	genome.wustl.edu	37	chr4	141583207	141583207	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattatacttccccatggacTtctccactaggtcttcatag	9	14	6	12	0	3	0	1	0	2	0	5	2	4	1	3	2	1	0	3	2	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:141583207T>A	ENST00000442267.2	-	10	1717	c.1643A>T	c.(1642-1644)aAg>aTg	p.K548M		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	548	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCCATGGACTTCTCCACTAG	0.473																																																	0													187	181	182					4																	141583207		1936	4144	6080	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1643A>T	4.37:g.141583207T>A	ENSP00000411197:p.Lys548Met		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.K548M	ENST00000442267.2	37	c.1643	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	T	19.63	3.862890	0.71949	.	.	ENSG00000109436	ENST00000442267	T	0.05025	3.51	5.7	4.53	0.55603	Rab-GAP/TBC domain (4);	0.091491	0.64402	D	0.000001	T	0.16257	0.0391	L	0.55213	1.73	0.80722	D	1	D	0.58970	0.984	P	0.61275	0.886	T	0.00289	-1.1844	10	0.66056	D	0.02	-9.5268	10.0109	0.41986	0.0:0.139:0.0:0.861	.	548	Q6ZT07	TBCD9_HUMAN	M	548	ENSP00000411197:K548M	ENSP00000411197:K548M	K	-	2	0	TBC1D9	141802657	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.796000	0.47869	1.004000	0.39156	0.533000	0.62120	AAG	TBC1D9	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109436		0.473	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0	130	0	T	NM_015130		141583207	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	10.84	74	9	SNP	1.000	A	A	141583207	T	A	141583207	3	1	13	1	0	0	0	0	1	0	0	0	15674	1609	56	5	2205	5	TBC1D9	4	141583207	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2429750	141583207	49571069	184	3730											
EDNRA	1909	genome.wustl.edu	37	chr4	148406992	148406992	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctggttaccactcatcaAcccactaatttggtcctacc	9	13	4	15	0	2	0	2	0	0	0	4	0	4	0	5	2	3	1	5	2	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148406992A>G	ENST00000324300.5	+	2	674	c.159A>G	c.(157-159)caA>caG	p.Q53Q	EDNRA_ENST00000358556.4_Silent_p.Q53Q|EDNRA_ENST00000506066.1_Silent_p.Q53Q|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.Q53Q	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	53					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCACTCATCAACCCACTAATT	0.418																																																	0													146	126	133					4																	148406992		2203	4300	6503	SO:0001819	synonymous_variant	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"GPCR / Class A : Endothelin receptors"	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.159A>G	4.37:g.148406992A>G			B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.Q53	ENST00000324300.5	37	c.159	CCDS3769.1	4																																																																																			EDNRA	-	NULL	ENSG00000151617		0.418	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	-	0	113	0	A			148406992	1	tier1	-	no_errors	ENST00000324300	ensembl	human	known	74_37	silent	28.85	37	15	SNP	0.299	G	G	148406992	A	G	148406992	2	3	13	1	0	0	0	0	0	0	0	1	4933	40	2	4		4	EDNRA	4	148406992	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	6823785	148406992	42747284	185	3731											
PRMT10	90826	genome.wustl.edu	37	chr4	148575339	148575339	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgtacagtattactctgtCcagttccagagctcatctca	9	14	6	12	0	4	1	2	0	3	1	7	1	6	1	2	0	3	4	2	0	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:148575339C>G	ENST00000322396.6	-	9	1951	c.1709G>C	c.(1708-1710)gGa>gCa	p.G570A	PRMT10_ENST00000541232.1_Missense_Mutation_p.G457A|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		570	SAM-dependent MTase PRMT-type 2. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATTACTCTGTCCAGTTCCAGA	0.438																																																	0													142	131	135					4																	148575339		2203	4300	6503	SO:0001583	missense	0																														ENST00000322396.6:c.1709G>C	4.37:g.148575339C>G	ENSP00000314396:p.Gly570Ala		A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G570A	ENST00000322396.6	37	c.1709	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.091326	0.00367	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.28454	1.61;1.61	6.08	-0.745	0.11098	.	0.708493	0.14108	N	0.340881	T	0.19485	0.0468	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	10	0.07990	T	0.79	-3.5335	8.4396	0.32808	0.0:0.3415:0.4226:0.2359	.	570	Q6P2P2	ANM10_HUMAN	A	570;457	ENSP00000314396:G570A;ENSP00000439508:G457A	ENSP00000314396:G570A	G	-	2	0	PRMT10	148794789	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.852000	0.04308	0.060000	0.16281	0.655000	0.94253	GGA	PRMT10	-	NULL	ENSG00000164169		0.438	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	-	0	78	0	C			148575339	-1	tier1	-	no_errors	ENST00000322396	ensembl	human	known	74_37	missense	17.07	68	14	SNP	0.000	G	G	148575339	C	G	148575339	3	3	13	1	0	0	0	0	1	0	0	0	12578	855	30	5	844	5	PRMT10	4	148575339	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	168347	148575339	42578937	186	3732											
PLRG1	5356	genome.wustl.edu	37	chr4	155460362	155460362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaattgtagtatcatggCttcctgtaatggaaacacat	13	13	8	7	1	1	0	1	0	0	0	3	2	2	1	1	2	1	4	1	2	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:155460362C>A	ENST00000499023.2	-	12	1172	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	PLRG1_ENST00000302078.5_Missense_Mutation_p.S340I|PLRG1_ENST00000393905.2_Missense_Mutation_p.S349I	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	349					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGTATCATGGCTTCCTGTAAT	0.338																																																	0													171	160	164					4																	155460362		2203	4299	6502	SO:0001583	missense	0			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1046G>T	4.37:g.155460362C>A	ENSP00000424417:p.Ser349Ile		B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S349I	ENST00000499023.2	37	c.1046	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021407	0.93462	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.74526	-0.85;-0.85;-0.85	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.035313	0.85682	D	0.000000	D	0.92802	0.7711	H	0.98701	4.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	D	0.94795	0.7965	10	0.87932	D	0	-8.0119	20.6593	0.99626	0.0:1.0:0.0:0.0	.	340;349	O43660-2;O43660	.;PLRG1_HUMAN	I	349;349;340	ENSP00000424417:S349I;ENSP00000377483:S349I;ENSP00000303191:S340I	ENSP00000303191:S340I	S	-	2	0	PLRG1	155679812	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.268000	0.78473	2.885000	0.99019	0.655000	0.94253	AGC	PLRG1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000171566		0.338	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	HGNC	protein_coding	OTTHUMT00000364824.1	-	0	51	0	C	NM_002669		155460362	-1	tier1	-	no_errors	ENST00000393905	ensembl	human	known	74_37	missense	35.48	40	22	SNP	1.000	A	A	155460362	C	A	155460362	3	1	13	1	0	0	0	0	1	0	0	0	12145	797	28	3	514	3	PLRG1	4	155460362	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	6885023	155460362	35693914	187	3733											
GLRB	2743	genome.wustl.edu	37	chr4	158091619	158091619	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaaaaagtttgtacttcTaagtctgatctgagatctaa	14	14	7	6	0	4	2	0	2	4	1	4	3	4	2	0	0	2	3	0	0	6	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:158091619T>C	ENST00000264428.4	+	10	1503	c.1233T>C	c.(1231-1233)tcT>tcC	p.S411S	GLRB_ENST00000512619.1_Missense_Mutation_p.L53P|GLRB_ENST00000509282.1_Silent_p.S411S|GLRB_ENST00000541722.1_3'UTR	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	411					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTTGTACTTCTAAGTCTGATC	0.328																																																	0													70	73	72					4																	158091619		2203	4300	6503	SO:0001819	synonymous_variant	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1233T>C	4.37:g.158091619T>C			A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	NULL	p.L53P	ENST00000264428.4	37	c.158	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	T	9.047	0.991228	0.18966	.	.	ENSG00000109738	ENST00000512619	.	.	.	6.06	-12.1	0.00011	.	.	.	.	.	T	0.48077	0.1480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64571	-0.6376	5	0.87932	D	0	.	2.9046	0.05716	0.2175:0.3981:0.1589:0.2255	.	.	.	.	P	53	.	ENSP00000425433:L53P	L	+	2	0	GLRB	158311069	0.001000	0.12720	0.414000	0.26521	0.979000	0.70002	-1.803000	0.01740	-2.454000	0.00540	-0.263000	0.10527	CTA	GLRB	-	NULL	ENSG00000109738		0.328	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1		0	50	0	T	NM_000824		158091619	1			no_errors	ENST00000512619	ensembl	human	putative	74_37	missense	6.52	42	3	SNP	0.044	C	C	158091619	T	C	158091619	2	2	13	1	0	0	0	0	0	0	0	1	6484	1509	53	4		4	GLRB	4	158091619	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2631257	158091619	33062657	188	3734											
FSTL5	56884	genome.wustl.edu	37	chr4	162697055	162697055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagttcattaatatctacaAgtccattactgtctgcatca	12	16	4	9	0	4	0	2	0	2	0	5	0	5	0	1	0	3	2	1	0	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:162697055A>G	ENST00000306100.5	-	5	1017	c.581T>C	c.(580-582)cTt>cCt	p.L194P	FSTL5_ENST00000379164.4_Missense_Mutation_p.L193P|FSTL5_ENST00000427802.2_Missense_Mutation_p.L193P|FSTL5_ENST00000536695.1_Missense_Mutation_p.L193P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	194	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATATCTACAAGTCCATTACT	0.294																																																	0													84	88	87					4																	162697055		2203	4294	6497	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.581T>C	4.37:g.162697055A>G	ENSP00000305334:p.Leu194Pro		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.L194P	ENST00000306100.5	37	c.581	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596586	0.46318	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.3	5.3	0.74995	EF-hand-like domain (1);	0.228496	0.41294	D	0.000919	T	0.45094	0.1325	M	0.75085	2.285	0.80722	D	1	P;D;P	0.59357	0.627;0.985;0.93	B;P;B	0.56823	0.255;0.807;0.36	T	0.37572	-0.9700	10	0.36615	T	0.2	.	14.7157	0.69265	1.0:0.0:0.0:0.0	.	193;193;194	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	P	194;193;193;193	ENSP00000305334:L194P;ENSP00000368462:L193P;ENSP00000389270:L193P;ENSP00000440409:L193P	ENSP00000305334:L194P	L	-	2	0	FSTL5	162916505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.030000	0.57260	2.121000	0.65114	0.528000	0.53228	CTT	FSTL5	-	pfscan_EF_hand_dom	ENSG00000168843		0.294	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0	24	0	A	NM_020116		162697055	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	G	G	162697055	A	G	162697055	3	3	13	1	0	0	0	0	1	0	0	0	6104	72	3	4	2010	4	FSTL5	4	162697055	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4605436	162697055	28457221	189	3735											
FAT1	2195	genome.wustl.edu	37	chr4	187541074	187541074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atagtgaactggctgaaaggGtctccgtctgtgatgctgta	9	12	13	7	1	2	3	0	3	2	0	3	3	2	3	1	2	2	3	1	2	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:187541074G>C	ENST00000441802.2	-	10	6875	c.6666C>G	c.(6664-6666)gaC>gaG	p.D2222E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2222	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGCTGAAAGGGTCTCCGTCTG	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													175	178	177					4																	187541074		2025	4177	6202	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6666C>G	4.37:g.187541074G>C	ENSP00000406229:p.Asp2222Glu			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.D2222E	ENST00000441802.2	37	c.6666	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798383	0.16397	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.61980	0.06	5.05	-5.04	0.02964	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.62723	1.935	0.53005	D	0.999966	D	0.76494	0.999	D	0.70487	0.969	T	0.70303	-0.4909	10	0.31617	T	0.26	.	14.6389	0.68708	0.7284:0.0:0.2716:0.0	.	2222	Q14517	FAT1_HUMAN	E	2222;2224	ENSP00000406229:D2222E	ENSP00000260147:D2224E	D	-	3	2	FAT1	187778068	0.994000	0.37717	0.561000	0.28357	0.073000	0.16967	0.499000	0.22546	-1.081000	0.03105	-0.768000	0.03414	GAC	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	39	0	G	NM_005245		187541074	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.858	C	C	187541074	G	C	187541074	3	2	13	1	0	0	0	0	1	0	0	0	5711	1252	44	5	7172	5	FAT1	4	187541074	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	24844019	187541074	3613202	190	3736											
ZFP42	132625	genome.wustl.edu	37	chr4	188924157	188924157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccctcaggctctcggagggGatgatttctcagactgttac	7	11	12	11	1	3	2	2	1	2	1	5	4	3	4	1	4	1	2	1	4	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr4:188924157G>C	ENST00000326866.4	+	4	604	c.196G>C	c.(196-198)Gat>Cat	p.D66H	ZFP42_ENST00000509524.1_Missense_Mutation_p.D66H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	66					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCTCGGAGGGGATGATTTCTC	0.502																																																	0													103	96	99					4																	188924157		2203	4300	6503	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.196G>C	4.37:g.188924157G>C	ENSP00000317686:p.Asp66His		D3DP65|Q8WXE2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D66H	ENST00000326866.4	37	c.196	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517247	0.44763	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.75260	-0.92;-0.92	4.52	3.68	0.42216	.	0.261456	0.28700	U	0.014423	T	0.76765	0.4033	L	0.54323	1.7	0.09310	N	1	D	0.67145	0.996	P	0.54460	0.753	T	0.69191	-0.5210	10	0.87932	D	0	.	10.7394	0.46145	0.0935:0.0:0.9064:0.0	.	66	Q96MM3	ZFP42_HUMAN	H	66	ENSP00000317686:D66H;ENSP00000424662:D66H	ENSP00000317686:D66H	D	+	1	0	ZFP42	189161151	0.708000	0.27876	0.005000	0.12908	0.001000	0.01503	3.313000	0.51935	1.511000	0.48818	0.655000	0.94253	GAT	ZFP42	-	NULL	ENSG00000179059		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0	54	0	G	NM_174900		188924157	1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.010	C	C	188924157	G	C	188924157	3	2	13	1	0	0	0	0	1	0	0	0	17698	1174	41	5	198	5	ZFP42	4	188924157	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1383083	188924157	2230119	191	3737											
CEP72	55722	genome.wustl.edu	37	chr5	644475	644475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggttaaaatcgctttTgttgagtatgaaaaaggaag	15	12	11	3	1	0	2	0	2	0	0	1	3	0	3	0	2	0	5	0	2	7	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:644475T>C	ENST00000264935.5	+	10	1691	c.1601T>C	c.(1600-1602)tTg>tCg	p.L534S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	534					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AAATCGCTTTTGTTGAGTATG	0.378																																																	0													156	157	157					5																	644475		2203	4300	6503	SO:0001583	missense	0			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1601T>C	5.37:g.644475T>C	ENSP00000264935:p.Leu534Ser		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.L534S	ENST00000264935.5	37	c.1601	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751629	0.49362	.	.	ENSG00000112877	ENST00000264935	T	0.42513	0.97	4.64	4.64	0.57946	.	0.000000	0.64402	D	0.000004	T	0.60805	0.2297	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64474	-0.6399	10	0.72032	D	0.01	-12.7819	10.718	0.46023	0.0:0.0:0.0:1.0	.	534	Q9P209	CEP72_HUMAN	S	534	ENSP00000264935:L534S	ENSP00000264935:L534S	L	+	2	0	CEP72	697475	0.773000	0.28580	0.705000	0.30386	0.361000	0.29550	3.221000	0.51215	1.846000	0.53633	0.459000	0.35465	TTG	CEP72	-	NULL	ENSG00000112877		0.378	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3		0	71	0	T	NM_018140		644475	1			no_errors	ENST00000264935	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.898	C	C	644475	T	C	644475	3	2	13	1	0	0	0	0	1	0	0	0	3267	1821	63	4	1639	4	CEP72	5	644475	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09		644475	180270785	192	3738											
KIAA0947	23379	genome.wustl.edu	37	chr5	5464788	5464788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcacacgaggtccgcctGctgactgtaagaatttaccg	11	9	9	12	3	1	2	1	1	0	1	2	3	2	2	3	1	3	2	3	1	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:5464788G>A	ENST00000296564.7	+	13	5563	c.5341G>A	c.(5341-5343)Gct>Act	p.A1781T		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1781					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGTCCGCCTGCTGACTGTAA	0.488																																																	0													30	30	30					5																	5464788		1925	4123	6048	SO:0001583	missense	0																														ENST00000296564.7:c.5341G>A	5.37:g.5464788G>A	ENSP00000296564:p.Ala1781Thr		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.A1781T	ENST00000296564.7	37	c.5341	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571509	0.65765	.	.	ENSG00000164151	ENST00000296564	T	0.10960	2.82	5.41	3.52	0.40303	.	.	.	.	.	T	0.09686	0.0238	L	0.47716	1.5	0.09310	N	1	P	0.41848	0.763	B	0.35770	0.21	T	0.19943	-1.0290	9	0.56958	D	0.05	-2.7639	7.7517	0.28901	0.0866:0.0:0.7511:0.1623	.	1781	Q9Y2F5	K0947_HUMAN	T	1781	ENSP00000296564:A1781T	ENSP00000296564:A1781T	A	+	1	0	KIAA0947	5517788	0.000000	0.05858	0.006000	0.13384	0.321000	0.28281	0.250000	0.18235	1.283000	0.44513	0.467000	0.42956	GCT	KIAA0947	-	NULL	ENSG00000164151		0.488	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	81	0	G			5464788	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.015	A	A	5464788	G	A	5464788	3	1	13	1	0	0	0	0	1	0	0	0	8229	1319	46	3	5391	3	KIAA0947	5	5464788	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4820313	5464788	175450472	193	3739											
DNAH5	1767	genome.wustl.edu	37	chr5	13769199	13769199	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccttctgtacctcagccTtgaccttttcagcagcctgt	6	14	6	15	0	4	1	3	1	1	0	4	1	4	1	5	0	4	2	5	0	1	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:13769199T>G	ENST00000265104.4	-	58	9871	c.9767A>C	c.(9766-9768)aAg>aCg	p.K3256T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3256	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACCTCAGCCTTGACCTTTTC	0.428									Kartagener syndrome																																								0													299	294	296					5																	13769199		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9767A>C	5.37:g.13769199T>G	ENSP00000265104:p.Lys3256Thr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3256T	ENST00000265104.4	37	c.9767	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198247	0.79015	.	.	ENSG00000039139	ENST00000265104	T	0.80304	-1.36	5.76	4.59	0.56863	Dynein heavy chain, coiled coil stalk (1);	0.044953	0.85682	D	0.000000	D	0.90324	0.6973	M	0.89478	3.035	0.58432	D	0.999998	P	0.36944	0.574	P	0.58013	0.831	D	0.90771	0.4672	10	0.87932	D	0	.	12.1817	0.54216	0.0:0.0668:0.0:0.9332	.	3256	Q8TE73	DYH5_HUMAN	T	3256	ENSP00000265104:K3256T	ENSP00000265104:K3256T	K	-	2	0	DNAH5	13822199	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.133000	0.71682	1.116000	0.41820	-0.261000	0.10672	AAG	DNAH5	-	NULL	ENSG00000039139		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	39	0	T	NM_001369		13769199	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G	G	13769199	T	G	13769199	3	3	13	1	0	0	0	0	1	0	0	0	4618	1609	56	4	4195	4	DNAH5	5	13769199	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	8304411	13769199	167146061	194	3740											
PDZD2	23037	genome.wustl.edu	37	chr5	31983269	31983269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgttgcagttacctggCtgagcagtgctggaatggcg	6	12	15	8	1	1	1	0	1	1	0	1	2	1	2	1	3	4	6	1	3	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:31983269C>A	ENST00000438447.1	+	3	873	c.485C>A	c.(484-486)gCt>gAt	p.A162D	PDZD2_ENST00000282493.3_Missense_Mutation_p.A162D			O15018	PDZD2_HUMAN	PDZ domain containing 2	162	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTACCTGGCTGAGCAGTGC	0.527																																																	0													94	99	97					5																	31983269		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.485C>A	5.37:g.31983269C>A	ENSP00000402033:p.Ala162Asp		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A162D	ENST00000438447.1	37	c.485	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730238	0.89390	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.73469	-0.75;-0.75	5.23	5.23	0.72850	PDZ/DHR/GLGF (2);	0.000000	0.48767	D	0.000168	T	0.76586	0.4008	N	0.14661	0.345	0.53005	D	0.999961	D	0.89917	1.0	D	0.87578	0.998	T	0.80487	-0.1361	10	0.72032	D	0.01	.	16.3449	0.83120	0.0:1.0:0.0:0.0	.	162	O15018	PDZD2_HUMAN	D	162	ENSP00000402033:A162D;ENSP00000282493:A162D	ENSP00000282493:A162D	A	+	2	0	PDZD2	32019026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.283000	0.65621	2.722000	0.93159	0.650000	0.86243	GCT	PDZD2	-	superfamily_PDZ,smart_PDZ	ENSG00000133401		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	107	0	C			31983269	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	A	A	31983269	C	A	31983269	3	1	13	1	0	0	0	0	1	0	0	0	11740	797	28	3	491	3	PDZD2	5	31983269	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	18214070	31983269	148931991	195	3741											
UGT3A2	167127	genome.wustl.edu	37	chr5	36051985	36051985	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattacctgccacctaaagTttcttccagaaagaaatcaa	16	10	4	11	0	2	2	1	0	1	2	3	2	3	2	4	0	2	1	4	0	7	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:36051985T>A	ENST00000282507.3	-	3	399	c.298A>T	c.(298-300)Act>Tct	p.T100S	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T66S|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	100					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCTAAAGTTTCTTCCAGA	0.318																																																	0													44	47	46					5																	36051985		2201	4299	6500	SO:0001583	missense	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.298A>T	5.37:g.36051985T>A	ENSP00000282507:p.Thr100Ser		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T100S	ENST00000282507.3	37	c.298	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	T	2.242	-0.373608	0.05034	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.59083	0.29;0.29;1.55	3.33	-1.19	0.09585	.	9.883580	0.01064	U	0.004696	T	0.31638	0.0803	N	0.05383	-0.06	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.009	T	0.12528	-1.0544	10	0.09843	T	0.71	.	2.5992	0.04862	0.36:0.2585:0.0:0.3816	.	66;100	E9PFK7;Q3SY77	.;UD3A2_HUMAN	S	100;66;100	ENSP00000282507:T100S;ENSP00000427404:T66S;ENSP00000420865:T100S	ENSP00000282507:T100S	T	-	1	0	UGT3A2	36087742	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.445000	0.06845	-0.256000	0.09473	-0.242000	0.12053	ACT	UGT3A2	-	pfam_UDP_glucos_trans	ENSG00000168671		0.318	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	-	0	169	0	T	NM_174914		36051985	-1	tier1	-	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	16.50	86	17	SNP	0.001	A	A	36051985	T	A	36051985	3	1	13	1	0	0	0	0	1	0	0	0	17013	1725	60	5	1293	5	UGT3A2	5	36051985	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4068716	36051985	144863275	196	3742											
NIPBL	25836	genome.wustl.edu	37	chr5	37006532	37006532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttacaaaatcagcggatgCttgtcttacaactatcaaca	15	11	6	9	1	3	0	2	0	1	0	3	1	3	1	0	1	6	2	0	1	7	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:37006532C>T	ENST00000282516.8	+	17	4428	c.3929C>T	c.(3928-3930)gCt>gTt	p.A1310V	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1310V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1310					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCAGCGGATGCTTGTCTTACA	0.338																																																	0													124	116	118					5																	37006532		2203	4299	6502	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3929C>T	5.37:g.37006532C>T	ENSP00000282516:p.Ala1310Val		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1310V	ENST00000282516.8	37	c.3929	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.483494	0.96307	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.58060	0.36;0.36	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.75136	-0.3424	10	0.56958	D	0.05	.	19.6236	0.95670	0.0:1.0:0.0:0.0	.	1310;1310	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	1310	ENSP00000282516:A1310V;ENSP00000406266:A1310V	ENSP00000282516:A1310V	A	+	2	0	NIPBL	37042289	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.460000	0.80816	2.643000	0.89663	0.555000	0.69702	GCT	NIPBL	-	NULL	ENSG00000164190		0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	53	0	C	NM_015384		37006532	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	37006532	C	T	37006532	3	4	13	1	0	0	0	0	1	0	0	0	10467	797	28	3	3991	3	NIPBL	5	37006532	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	954547	37006532	143908728	197	3743											
LIFR	3977	genome.wustl.edu	37	chr5	38510727	38510727	+	Frame_Shift_Del	DEL	A	A	-																															ggccaatcagtgctgataacActttttcttgactcacacaa																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510727delA	ENST00000263409.4	-	7	992	c.830delT	c.(829-831)gtgfs	p.V277fs	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Frame_Shift_Del_p.V277fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	277					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGCTGATAACACTTTTTCTTG	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106	93	97					5																	38510727		2203	4300	6503	SO:0001589	frameshift_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.830delT	5.37:g.38510727delA	ENSP00000263409:p.Val277fs		Q6LCD9	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V277fs	ENST00000263409.4	37	c.830	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1		0	128	0	A	NM_002310		38510727	-1	tier1		no_errors	ENST00000263409	ensembl	human	known	74_37	frame_shift_del	9.86	64	7	DEL	0.351	-	-	38510727	A	-	38510727	7	5	13	1	0	1	0	1	0	0	0	0	8809	159	6	0	2519	0	LIFR	5	38510727	Frame_Shift_Del	DEL	A	TCGA-IC-A6RE-01A-11D-A33E-09	1504195	38510727	142404533	198	3744	11	3									
LIFR	3977	genome.wustl.edu	37	chr5	38510729	38510729	+	Silent	SNP	T	T	C																															ccaatcagtgctgataacacTttttcttgactcacacaaca																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510729T>C	ENST00000263409.4	-	7	990	c.828A>G	c.(826-828)aaA>aaG	p.K276K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.K276K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	276					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGATAACACTTTTTCTTGAC	0.378			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													106	93	97					5																	38510729		2203	4300	6503	SO:0001819	synonymous_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.828A>G	5.37:g.38510729T>C			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K276	ENST00000263409.4	37	c.828	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.378	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	0	122	0	T	NM_002310		38510729	-1	tier1	-	no_errors	ENST00000263409	ensembl	human	known	74_37	silent	9.72	65	7	SNP	0.108	C	C	38510729	T	C	38510729	2	2	13	1	0	0	0	0	0	0	0	1	8809	1606	56	4		4	LIFR	5	38510729	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2	38510729	142404531	199	3745	11	3									
LIFR	3977	genome.wustl.edu	37	chr5	38510735	38510735	+	Silent	SNP	T	T	C																															agtgctgataacactttttcTtgactcacacaacaaaatgt																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:38510735T>C	ENST00000263409.4	-	7	984	c.822A>G	c.(820-822)caA>caG	p.Q274Q	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.Q274Q	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	274					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACACTTTTTCTTGACTCACAC	0.373			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													102	90	94					5																	38510735		2203	4300	6503	SO:0001819	synonymous_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.822A>G	5.37:g.38510735T>C			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q274	ENST00000263409.4	37	c.822	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.373	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	0	126	0	T	NM_002310		38510735	-1	tier1	-	no_errors	ENST00000263409	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.255	C	C	38510735	T	C	38510735	2	2	13	1	0	0	0	0	0	0	0	1	8809	1606	56	4		4	LIFR	5	38510735	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6	38510735	142404525	200	3746	11	3									
HCN1	348980	genome.wustl.edu	37	chr5	45262548	45262548	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggggaggcatagtggaaAgttcgagcggccagagggct	9	6	20	6	2	0	1	0	0	0	1	1	4	0	3	1	6	1	3	1	6	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:45262548A>T	ENST00000303230.4	-	8	2205	c.2148T>A	c.(2146-2148)acT>acA	p.T716T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	716					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATAGTGGAAAGTTCGAGCGG	0.652																																																	0													43	43	43					5																	45262548		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2148T>A	5.37:g.45262548A>T				Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T716	ENST00000303230.4	37	c.2148	CCDS3952.1	5																																																																																			HCN1	-	NULL	ENSG00000164588		0.652	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	70	0	A	NM_021072		45262548	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	T	T	45262548	A	T	45262548	2	4	13	1	0	0	0	0	0	0	0	1	7023	59	3	5		5	HCN1	5	45262548	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	6751813	45262548	135652712	201	3747											
PARP8	79668	genome.wustl.edu	37	chr5	50093060	50093060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcaaaatggccctaTgcttagggtaagttcttgct	8	16	10	7	0	2	0	1	0	1	0	2	0	2	0	1	2	2	5	1	2	5	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:50093060T>G	ENST00000281631.5	+	14	1726	c.1568T>G	c.(1567-1569)aTg>aGg	p.M523R	PARP8_ENST00000514342.2_Missense_Mutation_p.M276R|PARP8_ENST00000503750.2_Missense_Mutation_p.M523R|PARP8_ENST00000514067.2_Missense_Mutation_p.M523R|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.M502R|PARP8_ENST00000505697.2_Missense_Mutation_p.M523R	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	523						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AATGGCCCTATGCTTAGGGTA	0.328																																																	0													135	119	125					5																	50093060		2203	4299	6502	SO:0001583	missense	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1568T>G	5.37:g.50093060T>G	ENSP00000281631:p.Met523Arg		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.M523R	ENST00000281631.5	37	c.1568	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630269	0.87660	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.36672	1.1	0.80722	D	1	P;P;P	0.52316	0.94;0.952;0.94	P;P;P	0.55112	0.769;0.643;0.769	T	0.59311	-0.7478	8	.	.	.	-23.285	16.0796	0.80995	0.0:0.0:0.0:1.0	.	415;523;523	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	R	523;523;276;523;523;502;276;276	.	.	M	+	2	0	PARP8	50128817	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.877000	0.87225	2.206000	0.71126	0.533000	0.62120	ATG	PARP8	-	NULL	ENSG00000151883		0.328	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	-	0	47	0	T	NM_024615		50093060	1	tier1	-	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	13.89	30	5	SNP	1.000	G	G	50093060	T	G	50093060	3	3	13	1	0	0	0	0	1	0	0	0	11504	1464	51	4	1622	4	PARP8	5	50093060	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4830512	50093060	130822200	202	3748											
ADAMTS6	11174	genome.wustl.edu	37	chr5	64447710	64447710	+	5'UTR	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catctgtctgaagtatgctcGactgcagaacttgaacttca	11	12	8	10	1	3	3	1	2	2	1	4	4	3	3	0	0	4	3	0	0	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:64447710G>C	ENST00000314351.5	-	0	966							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAGTATGCTCGACTGCAGAAC	0.453																																																	0													144	136	138					5																	64447710		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-356C>G	5.37:g.64447710G>C			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.R1103G	ENST00000314351.5	37	c.3307		5	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734833	0.48939	.	.	ENSG00000049192	ENST00000381055	T	0.48522	0.81	5.65	3.84	0.44239	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58092	-0.7697	10	0.45353	T	0.12	.	15.0297	0.71696	0.0:0.0:0.7403:0.2597	.	1103	Q9UKP5	ATS6_HUMAN	G	1103	ENSP00000370443:R1103G	ENSP00000370443:R1103G	R	-	1	2	ADAMTS6	64483466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.224000	0.72265	0.904000	0.36572	0.655000	0.94253	CGA	ADAMTS6	-	pfam_PLAC,pfscan_PLAC	ENSG00000049192		0.453	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2	-	0	24	0	G	NM_197941		64447710	-1	tier1	-	no_errors	ENST00000381055	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	C	C	64447710	G	C	64447710	1	2	13	0	1	0	0	0	0	0	0	0	270	1066	37	5		5	ADAMTS6	5	64447710	5'UTR	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	14354650	64447710	116467550	203	3749											
RAD17	5884	genome.wustl.edu	37	chr5	68677884	68677884	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggggatgtttaatactGgtaagatttgctgtgaaggt	11	14	13	3	0	1	2	1	1	0	1	1	3	1	3	0	4	2	3	0	4	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:68677884G>A	ENST00000509734.1	+	6	1219	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	RAD17_ENST00000345306.6_Splice_Site_p.E170K|RAD17_ENST00000361732.2_Splice_Site_p.E170K|RAD17_ENST00000354868.5_Splice_Site_p.E170K|RAD17_ENST00000354312.3_Splice_Site_p.E170K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Splice_Site_p.E84K|RAD17_ENST00000358030.2_Splice_Site_p.E5K|RAD17_ENST00000380774.3_Splice_Site_p.E181K|RAD17_ENST00000305138.4_Splice_Site_p.E170K|RAD17_ENST00000521422.1_Splice_Site_p.E5K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	181					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GTTTAATACTGGTAAGATTTG	0.368								Other conserved DNA damage response genes																																									0													64	64	64					5																	68677884		2203	4299	6502	SO:0001630	splice_region_variant	0			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"RAD1 (S. pombe) homolog"			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.541+1G>A	5.37:g.68677884G>A			A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met	p.E181K	ENST00000509734.1	37	c.541	CCDS4003.1	5	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861130	0.71949	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000512785;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.0	5.0	0.66597	ATPase, AAA+ type, core (1);	0.150464	0.56097	D	0.000029	T	0.42988	0.1227	M	0.74881	2.28	0.54753	D	0.999985	D;P;D	0.55172	0.97;0.851;0.962	P;B;B	0.51615	0.675;0.441;0.441	T	0.37934	-0.9684	9	.	.	.	-14.8097	17.4369	0.87555	0.0:0.0:1.0:0.0	.	181;84;170	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	170;181;170;5;170;170;5;170;84;5;181	ENSP00000355226:E170K;ENSP00000426191:E181K;ENSP00000346938:E170K;ENSP00000427743:E5K;ENSP00000346271:E170K;ENSP00000311227:E170K;ENSP00000427673:E5K;ENSP00000303134:E170K;ENSP00000282891:E84K;ENSP00000350725:E5K;ENSP00000370151:E181K	.	E	+	1	0	RAD17	68713640	1.000000	0.71417	0.980000	0.43619	0.156000	0.22039	4.425000	0.59875	2.479000	0.83701	0.650000	0.86243	GAA	RAD17	-	superfamily_P-loop_NTPase,tigrfam_Checkpoint_prot_Rad24_fun/met	ENSG00000152942		0.368	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RAD17	HGNC	protein_coding	OTTHUMT00000369171.1		0	76	0	G	NM_133344	Missense_Mutation	68677884	1			no_errors	ENST00000380774	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	68677884	G	A	68677884	5	1	13	1	0	0	0	0	0	0	1	0	13024	1362	47	3	568	3	RAD17	5	68677884	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4230174	68677884	112237376	204	3750											
NSA2	10412	genome.wustl.edu	37	chr5	74065074	74065074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagagaaacaccaaacaaaAgaatgatgaaaagacaccac	25	2	6	8	0	0	5	0	2	0	3	0	6	0	5	2	0	2	0	2	0	8	0	rs139165108		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:74065074A>G	ENST00000296802.5	+	3	596	c.227A>G	c.(226-228)aAg>aGg	p.K76R	NSA2_ENST00000513356.1_3'UTR|GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000509430.1_5'Flank|GFM2_ENST00000296805.3_5'Flank	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	76	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ACCAAACAAAAGAATGATGAA	0.353																																																	0													104	113	109					5																	74065074		2203	4300	6503	SO:0001583	missense	0			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.227A>G	5.37:g.74065074A>G	ENSP00000296802:p.Lys76Arg			Missense_Mutation	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2	p.K76R	ENST00000296802.5	37	c.227	CCDS4025.1	5	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313800	0.60414	.	.	ENSG00000164346	ENST00000296802	T	0.47177	0.85	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	N	0.17838	0.53	0.80722	D	1	B	0.19331	0.035	B	0.18263	0.021	T	0.09818	-1.0657	10	0.34782	T	0.22	.	16.1432	0.81544	1.0:0.0:0.0:0.0	.	76	O95478	NSA2_HUMAN	R	76	ENSP00000296802:K76R	ENSP00000296802:K76R	K	+	2	0	NSA2	74100830	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.615000	0.90920	2.276000	0.75962	0.397000	0.26171	AAG	NSA2	-	pfam_Ribosomal_S8e/biogenesis_NSA2	ENSG00000164346		0.353	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSA2	HGNC	protein_coding	OTTHUMT00000254041.3	-	0	32	0	A	NM_014886		74065074	1	tier1	-	no_errors	ENST00000296802	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	G	G	74065074	A	G	74065074	3	3	13	1	0	0	0	0	1	0	0	0	10707	72	3	4	237	4	NSA2	5	74065074	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	5387190	74065074	106850186	205	3751											
DMGDH	29958	genome.wustl.edu	37	chr5	78324364	78324364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcagaggtcagtttctGaaggacctttcttgcctgtg	7	15	10	9	0	5	2	2	1	3	1	5	3	5	3	2	2	1	1	2	2	1	4	rs199926747		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:78324364G>T	ENST00000255189.3	-	12	1952	c.1924C>A	c.(1924-1926)Cag>Aag	p.Q642K	DMGDH_ENST00000380311.4_Missense_Mutation_p.Q441K|DMGDH_ENST00000540686.1_Missense_Mutation_p.Q262K	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	642					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GTCAGTTTCTGAAGGACCTTT	0.398																																																	0													178	182	181					5																	78324364		2203	4300	6503	SO:0001583	missense	0			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.1924C>A	5.37:g.78324364G>T	ENSP00000255189:p.Gln642Lys		B2RBN0|B4E1J9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG	p.Q642K	ENST00000255189.3	37	c.1924	CCDS4044.1	5	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553293	0.45487	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.92	5.0	0.66597	Glycine cleavage T-protein, N-terminal (1);	0.052259	0.85682	D	0.000000	T	0.71350	0.3329	L	0.58428	1.81	0.54753	D	0.999988	B;B;B;B	0.32283	0.362;0.171;0.098;0.12	B;B;B;B	0.33121	0.11;0.096;0.041;0.158	T	0.68243	-0.5460	10	0.27785	T	0.31	.	16.5968	0.84798	0.0:0.13:0.87:0.0	.	262;441;492;642	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	K	642;481;441;262;492	ENSP00000255189:Q642K;ENSP00000430972:Q481K;ENSP00000369667:Q441K;ENSP00000439478:Q262K	ENSP00000255189:Q642K	Q	-	1	0	DMGDH	78360120	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.449000	0.80643	2.809000	0.96659	0.655000	0.94253	CAG	DMGDH	-	pfam_GCV_T_N,pfam_SoxG	ENSG00000132837		0.398	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMGDH	HGNC	protein_coding	OTTHUMT00000226963.3		0	72	0	G	NM_013391		78324364	-1			no_errors	ENST00000255189	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.998	T	T	78324364	G	T	78324364	3	4	13	1	0	0	0	0	1	0	0	0	4595	1299	45	3	696	3	DMGDH	5	78324364	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4259290	78324364	102590896	206	3752											
RASA1	5921	genome.wustl.edu	37	chr5	86627277	86627277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggccagggtcctttgtaCtttcatttcttagccagatg	7	14	11	9	0	2	1	1	0	1	1	3	2	3	2	3	3	2	1	3	3	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:86627277C>T	ENST00000274376.6	+	2	1216	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	RASA1_ENST00000506290.1_Missense_Mutation_p.L52F|RASA1_ENST00000512763.1_Missense_Mutation_p.L51F|RASA1_ENST00000456692.2_Missense_Mutation_p.L41F	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	218	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTCCTTTGTACTTTCATTTCT	0.388																																																	0													165	159	161					5																	86627277		2203	4300	6503	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.652C>T	5.37:g.86627277C>T	ENSP00000274376:p.Leu218Phe		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.L218F	ENST00000274376.6	37	c.652	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.076877	0.94000	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.35	5.35	0.76521	SH2 motif (5);	0.141869	0.49305	D	0.000158	D	0.93618	0.7962	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.997;0.999;0.997;0.995;0.998	D	0.95557	0.8626	10	0.87932	D	0	.	19.0646	0.93104	0.0:1.0:0.0:0.0	.	52;51;251;52;41;218	E9PGC0;B4DTL2;Q59GK3;B4DTX4;P20936-2;P20936	.;.;.;.;.;RASA1_HUMAN	F	218;251;41;51;52	ENSP00000274376:L218F;ENSP00000411221:L41F;ENSP00000422008:L51F;ENSP00000420905:L52F	ENSP00000274376:L218F	L	+	1	0	RASA1	86663033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.678000	0.68153	2.510000	0.84645	0.585000	0.79938	CTT	RASA1	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000145715		0.388	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1		0	18	0	C	NM_002890		86627277	1			no_errors	ENST00000274376	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	86627277	C	T	86627277	3	4	13	1	0	0	0	0	1	0	0	0	13105	565	20	3	670	3	RASA1	5	86627277	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	8302913	86627277	94287983	207	3753											
LIX1	167410	genome.wustl.edu	37	chr5	96430719	96430719	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatctagagaatactgAgaatagtaggagatgacttc	14	13	9	5	0	2	4	1	2	1	3	3	7	2	4	0	1	1	1	0	1	6	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:96430719A>G	ENST00000274382.4	-	6	877	c.582T>C	c.(580-582)tcT>tcC	p.S194S	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	194										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GAGAATACTGAGAATAGTAGG	0.512																																																	0													46	50	49					5																	96430719		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"chromosome 5 open reading frame 11", "Lix1 homolog (mouse)"	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.582T>C	5.37:g.96430719A>G			A8K4R9|Q8N7I2	Silent	SNP	NULL	p.S194	ENST00000274382.4	37	c.582	CCDS4088.1	5																																																																																			LIX1	-	NULL	ENSG00000145721		0.512	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	HGNC	protein_coding	OTTHUMT00000250625.1	-	0	43	0	A	NM_153234		96430719	-1	tier1	-	no_errors	ENST00000274382	ensembl	human	known	74_37	silent	17.86	23	5	SNP	1.000	G	G	96430719	A	G	96430719	2	3	13	1	0	0	0	0	0	0	0	1	8861	291	11	4		4	LIX1	5	96430719	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	9803442	96430719	84484541	208	3754											
FBXL17	64839	genome.wustl.edu	37	chr5	107703648	107703648	+	Frame_Shift_Del	DEL	A	A	-																															ctcatccagtgacaaattggAaaatatctgtgaataaaaaa																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:107703648delA	ENST00000542267.1	-	2	1406	c.1000delT	c.(1000-1002)tccfs	p.S334fs	FBXL17_ENST00000359660.5_5'UTR|FBXL17_ENST00000496714.1_5'UTR	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	334	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GACAAATTGGAAAATATCTGT	0.363																																																	0													101	80	86					5																	107703648		692	1591	2283	SO:0001589	frameshift_variant	0			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1000delT	5.37:g.107703648delA	ENSP00000437464:p.Ser334fs		A1A4E3	Frame_Shift_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.S334fs	ENST00000542267.1	37	c.1000	CCDS54886.1	5																																																																																			FBXL17	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000145743		0.363	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL17	HGNC	protein_coding			0	75	0	A			107703648	-1	tier1		no_errors	ENST00000542267	ensembl	human	known	74_37	frame_shift_del	15.38	33	6	DEL	1.000	-	-	107703648	A	-	107703648	7	5	13	1	0	1	0	1	0	0	0	0	5735	246	9	0	1137	0	FBXL17	5	107703648	Frame_Shift_Del	DEL	A	TCGA-IC-A6RE-01A-11D-A33E-09	11272929	107703648	73211612	209	3755											
APC	324	genome.wustl.edu	37	chr5	112174004	112174004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacctctcaggaagacagaAgttctgggtctaccactgaa	13	9	9	10	0	3	3	1	1	3	2	4	4	3	4	2	2	2	1	2	2	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:112174004A>C	ENST00000457016.1	+	16	3093	c.2713A>C	c.(2713-2715)Agt>Cgt	p.S905R	APC_ENST00000257430.4_Missense_Mutation_p.S905R|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.S905R			P25054	APC_HUMAN	adenomatous polyposis coli	905	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E902fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGACAGAAGTTCTGGGTC	0.443		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Unknown(1)|Deletion - Frameshift(1)	thyroid(1)|skin(1)											78	78	78					5																	112174004		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2713A>C	5.37:g.112174004A>C	ENSP00000413133:p.Ser905Arg		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S905R	ENST00000457016.1	37	c.2713	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	8.745	0.919883	0.17982	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93763	-2.56;-3.28;-2.56;-2.56;-2.73	5.92	4.75	0.60458	.	0.107165	0.64402	D	0.000003	D	0.91811	0.7409	M	0.71581	2.175	0.42668	D	0.993505	B;B	0.27380	0.177;0.177	B;B	0.26770	0.073;0.073	D	0.90882	0.4754	10	0.56958	D	0.05	-7.1184	12.2835	0.54779	0.9327:0.0:0.0673:0.0	.	907;905	Q4LE70;P25054	.;APC_HUMAN	R	905;887;905;905;905	ENSP00000413133:S905R;ENSP00000423224:S887R;ENSP00000257430:S905R;ENSP00000427089:S905R;ENSP00000423828:S905R	ENSP00000257430:S905R	S	+	1	0	APC	112201903	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	3.652000	0.54439	2.266000	0.75297	0.455000	0.32223	AGT	APC	-	NULL	ENSG00000134982		0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0	25	0	A	NM_000038		112174004	1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	C	C	112174004	A	C	112174004	3	2	13	1	0	0	0	0	1	0	0	0	763	72	3	4	2771	4	APC	5	112174004	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4470356	112174004	68741256	210	3756											
PRR16	51334	genome.wustl.edu	37	chr5	120021871	120021871	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctccaccacctcctccaAggttgacacctgtgaagtgt	9	9	7	16	0	0	2	0	2	0	0	3	2	3	2	7	1	0	1	7	1	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:120021871A>C	ENST00000407149.2	+	2	591	c.382A>C	c.(382-384)Agg>Cgg	p.R128R	PRR16_ENST00000379551.2_Silent_p.R105R|PRR16_ENST00000505123.1_Silent_p.R58R|PRR16_ENST00000446965.1_Silent_p.R58R			Q569H4	LARGN_HUMAN	proline rich 16	128	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACCTCCTCCAAGGTTGACACC	0.522																																																	0													121	104	110					5																	120021871		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.382A>C	5.37:g.120021871A>C			D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	NULL	p.R128	ENST00000407149.2	37	c.382		5																																																																																			PRR16	-	NULL	ENSG00000184838		0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	-	0	54	0	A	NM_016644		120021871	1	tier1	-	no_errors	ENST00000407149	ensembl	human	known	74_37	silent	37.74	33	20	SNP	0.152	C	C	120021871	A	C	120021871	2	2	13	1	0	0	0	0	0	0	0	1	12631	63	3	4		4	PRR16	5	120021871	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7847867	120021871	60893389	211	3757											
ADAMTS19	171019	genome.wustl.edu	37	chr5	128984537	128984537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcccagaaaacaatacAgaatatgtgagaatccacct	17	8	7	9	0	0	3	0	1	0	3	2	4	2	3	3	1	2	0	3	1	7	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:128984537A>G	ENST00000274487.4	+	13	2177	c.2032A>G	c.(2032-2034)Aga>Gga	p.R678G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	678	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAACAATACAGAATATGTGA	0.378																																																	0													114	120	118					5																	128984537		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2032A>G	5.37:g.128984537A>G	ENSP00000274487:p.Arg678Gly			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R678G	ENST00000274487.4	37	c.2032	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394965	0.42512	.	.	ENSG00000145808	ENST00000274487	T	0.56275	0.47	4.41	3.23	0.37069	.	0.146062	0.44097	D	0.000484	T	0.47967	0.1474	M	0.69248	2.105	0.49483	D	0.999793	P	0.36086	0.536	B	0.33960	0.173	T	0.46965	-0.9153	9	.	.	.	.	11.9066	0.52715	0.854:0.146:0.0:0.0	.	678	Q8TE59	ATS19_HUMAN	G	678	ENSP00000274487:R678G	.	R	+	1	2	ADAMTS19	129012436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	0.999000	0.39023	0.533000	0.62120	AGA	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.378	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	135	0	A	NM_133638		128984537	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	6.90	81	6	SNP	1.000	G	G	128984537	A	G	128984537	3	3	13	1	0	0	0	0	1	0	0	0	264	180	7	4	2082	4	ADAMTS19	5	128984537	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	8962666	128984537	51930723	212	3758											
CHSY3	337876	genome.wustl.edu	37	chr5	129520423	129520423	+	Frame_Shift_Del	DEL	A	A	-																															agtatggctaccgcagagttAaccccatgcacggggtggag																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:129520423delA	ENST00000305031.4	+	3	1946	c.1588delA	c.(1588-1590)aacfs	p.N530fs		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	530					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCGCAGAGTTAACCCCATGCA	0.463																																																	0													72	70	71					5																	129520423		2203	4300	6503	SO:0001589	frameshift_variant	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1588delA	5.37:g.129520423delA	ENSP00000302629:p.Asn530fs		B2RP97|Q76L22|Q86Y52	Frame_Shift_Del	DEL	pfam_Chond_GalNAc,pfam_Fringe-like	p.N530fs	ENST00000305031.4	37	c.1588	CCDS34223.1	5																																																																																			CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.463	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1		0	98	0	A	NM_175856		129520423	1	tier1		no_errors	ENST00000305031	ensembl	human	known	74_37	frame_shift_del	28.12	46	18	DEL	0.984	-	-	129520423	A	-	129520423	7	5	13	1	0	1	0	1	0	0	0	0	3420	362	13	0	1598	0	CHSY3	5	129520423	Frame_Shift_Del	DEL	A	TCGA-IC-A6RE-01A-11D-A33E-09	535886	129520423	51394837	213	3759											
AFF4	27125	genome.wustl.edu	37	chr5	132223538	132223538	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaagtttttccacttacTtgatgagatccaccgtctct	8	15	6	12	1	1	2	0	2	1	1	4	3	3	2	4	0	2	1	4	0	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:132223538T>G	ENST00000265343.5	-	16	3312	c.2933A>C	c.(2932-2934)aAa>aCa	p.K978T		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	978					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCACTTACTTGATGAGATC	0.403																																					Ovarian(126;889 1733 2942 10745 11605)												0													129	120	123					5																	132223538		2203	4300	6503	SO:0001630	splice_region_variant	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2933+1A>C	5.37:g.132223538T>G			B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K978T	ENST00000265343.5	37	c.2933	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898003	0.72639	.	.	ENSG00000072364	ENST00000265343	T	0.69561	-0.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.82135	-0.0607	9	.	.	.	-15.057	16.3943	0.83563	0.0:0.0:0.0:1.0	.	978	Q9UHB7	AFF4_HUMAN	T	978	ENSP00000265343:K978T	.	K	-	2	0	AFF4	132251437	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.249000	0.72427	2.281000	0.76405	0.533000	0.62120	AAA	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.403	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1	-	0	12	0	T	NM_014423	Missense_Mutation	132223538	-1	tier1	-	no_errors	ENST00000265343	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G	G	132223538	T	G	132223538	5	3	13	1	0	0	0	0	0	0	1	0	359	1623	56	4	582	4	AFF4	5	132223538	Splice_Site	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2703115	132223538	48691722	214	3760											
TRPC7	57113	genome.wustl.edu	37	chr5	135692654	135692654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagctcctgttccagcGggctgagcgtcaggcgctgg	4	7	16	14	5	1	1	1	1	0	0	3	1	3	1	2	3	3	5	2	3	0	1	rs571109629		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:135692654G>A	ENST00000513104.1	-	2	704	c.422C>T	c.(421-423)cCg>cTg	p.P141L	TRPC7_ENST00000355180.3_Missense_Mutation_p.P141L|TRPC7_ENST00000426057.2_Missense_Mutation_p.P141L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	141					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGTTCCAGCGGGCTGAGCGT	0.672																																																	0													70	79	76					5																	135692654		2203	4299	6502	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.422C>T	5.37:g.135692654G>A	ENSP00000426070:p.Pro141Leu		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.P141L	ENST00000513104.1	37	c.422	CCDS47267.2	5	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745564	0.69418	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.80033	-1.16;-1.33;-1.27	5.14	5.14	0.70334	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.63428	1.95	0.58432	D	0.999999	D;B;B;B	0.89917	1.0;0.047;0.017;0.017	D;B;B;B	0.81914	0.995;0.076;0.014;0.014	D	0.84095	0.0392	10	0.21540	T	0.41	-19.3673	18.7977	0.92001	0.0:0.0:1.0:0.0	.	141;141;141;141	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	141	ENSP00000347312:P141L;ENSP00000441628:P141L;ENSP00000426070:P141L	ENSP00000265193:P141L	P	-	2	0	TRPC7	135720553	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	9.657000	0.98554	2.666000	0.90696	0.561000	0.74099	CCG	TRPC7	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000069018		0.672	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	-	0	16	0	G	NM_020389		135692654	-1	tier1	-	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	50.00	4	4	SNP	1.000	A	A	135692654	G	A	135692654	3	1	13	1	0	0	0	0	1	0	0	0	16632	1116	39	1	2210	1	TRPC7	5	135692654	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3469116	135692654	45222606	215	3761											
GFRA3	2676	genome.wustl.edu	37	chr5	137593388	137593388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttgggggccacaggcGgcagcgcgcagttgggggcg	5	4	22	10	4	0	0	0	0	0	0	0	0	0	0	1	7	1	5	1	7	0	2	rs573286530		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:137593388G>A	ENST00000274721.3	-	4	971	c.725C>T	c.(724-726)cCg>cTg	p.P242L	GFRA3_ENST00000378362.3_Missense_Mutation_p.P211L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	242					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCACAGGCGGCAGCGCGCA	0.706													G|||	1	0.000199681	8e-04	0	5008	,	,		12771	0		0	False		,,,				2504	0																0													12	15	14					5																	137593388		2171	4244	6415	SO:0001583	missense	0			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.725C>T	5.37:g.137593388G>A	ENSP00000274721:p.Pro242Leu		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.P242L	ENST00000274721.3	37	c.725	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044663	0.55110	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.44083	1.53;0.93	4.81	3.87	0.44632	.	0.198458	0.43579	D	0.000543	T	0.56262	0.1973	M	0.63428	1.95	0.47547	D	0.999458	D;D	0.89917	1.0;1.0	D;D	0.81914	0.926;0.995	T	0.53620	-0.8413	10	0.37606	T	0.19	-17.9025	9.4872	0.38937	0.0:0.0:0.7891:0.2108	.	211;242	O60609-2;O60609	.;GFRA3_HUMAN	L	242;211	ENSP00000274721:P242L;ENSP00000367613:P211L	ENSP00000274721:P242L	P	-	2	0	GFRA3	137621287	0.997000	0.39634	0.832000	0.32986	0.302000	0.27658	2.748000	0.47483	2.212000	0.71576	0.655000	0.94253	CCG	GFRA3	-	NULL	ENSG00000146013		0.706	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	-	0	32	0	G	NM_001496		137593388	-1	tier1	-	no_errors	ENST00000274721	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.714	A	A	137593388	G	A	137593388	3	1	13	1	0	0	0	0	1	0	0	0	6375	1116	39	1	497	1	GFRA3	5	137593388	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1900734	137593388	43321872	216	3762											
KDM3B	51780	genome.wustl.edu	37	chr5	137727387	137727387	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcggcatctttagcaaagaAgaaacccctcttcattacaa	14	11	5	11	1	3	2	1	0	2	2	4	2	3	2	2	1	3	2	2	1	6	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:137727387A>C	ENST00000314358.5	+	8	2266	c.2066A>C	c.(2065-2067)aAg>aCg	p.K689T	KDM3B_ENST00000394866.1_Missense_Mutation_p.K345T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	689	Ser-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTAGCAAAGAAGAAACCCCTC	0.547																																																	0													52	54	53					5																	137727387		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2066A>C	5.37:g.137727387A>C	ENSP00000326563:p.Lys689Thr		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.K689T	ENST00000314358.5	37	c.2066	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	19.48	3.836115	0.71373	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.77229	-0.57;-1.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.982;0.99	P;P	0.60345	0.873;0.815	T	0.80374	-0.1409	10	0.44086	T	0.13	-24.4377	15.7448	0.77929	1.0:0.0:0.0:0.0	.	345;689	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	T	689;479;345	ENSP00000326563:K689T;ENSP00000378335:K345T	ENSP00000326563:K689T	K	+	2	0	KDM3B	137755286	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.962000	0.87912	2.176000	0.68965	0.533000	0.62120	AAG	KDM3B	-	NULL	ENSG00000120733		0.547	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	35	0	A	NM_016604		137727387	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	C	C	137727387	A	C	137727387	3	2	13	1	0	0	0	0	1	0	0	0	8154	72	3	4	2096	4	KDM3B	5	137727387	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	133999	137727387	43187873	217	3763											
PCDHA13	56136	genome.wustl.edu	37	chr5	140264110	140264110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagttggtcgtactcgcagCagaggcggccgagggtgtgc	6	7	19	9	4	0	1	0	0	0	1	2	3	0	2	1	5	3	4	1	5	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140264110C>G	ENST00000289272.2	+	1	2257	c.2257C>G	c.(2257-2259)Cag>Gag	p.Q753E	PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.Q753E	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	753	6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACTCGCAGCAGAGGCGGCC	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)												0													42	47	45					5																	140264110		2203	4300	6503	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2257C>G	5.37:g.140264110C>G	ENSP00000289272:p.Gln753Glu		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q753E	ENST00000289272.2	37	c.2257	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	9.383	1.073600	0.20147	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.13901	2.55;2.55	4.61	3.73	0.42828	.	.	.	.	.	T	0.26268	0.0641	M	0.90705	3.14	0.22866	N	0.998632	B;B;B	0.12013	0.003;0.001;0.005	B;B;B	0.17979	0.003;0.003;0.02	T	0.16630	-1.0396	9	0.37606	T	0.19	.	14.2436	0.65973	0.0:0.8494:0.1506:0.0	.	753;753;753	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	E	753	ENSP00000386821:Q753E;ENSP00000289272:Q753E	ENSP00000289272:Q753E	Q	+	1	0	PCDHA13	140244294	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	2.030000	0.41108	0.896000	0.36366	0.655000	0.94253	CAG	PCDHA13	-	NULL	ENSG00000239389		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	66	0	C	NM_018904		140264110	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	G	G	140264110	C	G	140264110	3	3	13	1	0	0	0	0	1	0	0	0	11562	711	25	5	2259	5	PCDHA13	5	140264110	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2536723	140264110	40651150	218	3764											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggcgcttcagaccgcGgctccccggctttgagcagc	4	7	16	14	4	1	2	1	1	0	1	2	2	2	2	3	4	2	4	3	4	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140559227G>A	ENST00000239444.2	+	1	1857	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667																																																	0													66	113	97					5																	140559227		2203	4299	6502	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1612G>A	5.37:g.140559227G>A	ENSP00000239444:p.Gly538Ser		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G538S	ENST00000239444.2	37	c.1612	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376331	0.61735	.	.	ENSG00000120322	ENST00000239444	T	0.01647	4.71	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17831	0.0428	H	0.95850	3.73	0.51012	D	0.999906	D	0.89917	1.0	D	0.87578	0.998	T	0.30650	-0.9971	9	0.87932	D	0	.	16.2834	0.82708	0.0:0.0:1.0:0.0	.	538	Q9UN66	PCDB8_HUMAN	S	538	ENSP00000239444:G538S	ENSP00000239444:G538S	G	+	1	0	PCDHB8	140539411	1.000000	0.71417	0.942000	0.38095	0.031000	0.12232	9.342000	0.97044	1.915000	0.55452	0.298000	0.19748	GGC	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.667	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	433	0	G	NM_019120		140559227	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	15.97	242	46	SNP	1.000	A	A	140559227	G	A	140559227	3	1	13	1	0	0	0	0	1	0	0	0	11587	1116	39	1	1614	1	PCDHB8	5	140559227	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	295117	140559227	40356033	219	3765											
PCDHB11	56125	genome.wustl.edu	37	chr5	140581066	140581066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggctccgcgccctgcacCgagctggtgccccgggcggc	4	4	15	18	6	0	0	0	0	0	0	1	1	1	0	5	4	4	3	5	4	1	0	rs564395093	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140581066C>T	ENST00000354757.3	+	1	1719	c.1719C>T	c.(1717-1719)acC>acT	p.T573T	PCDHB11_ENST00000536699.1_Silent_p.T208T	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	573	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCCTGCACCGAGCTGGTGC	0.706																																																	0													3	5	4					5																	140581066		1349	3171	4520	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1719C>T	5.37:g.140581066C>T			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T573	ENST00000354757.3	37	c.1719	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like	ENSG00000197479		0.706	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0	72	0	C	NM_018931		140581066	1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.036	T	T	140581066	C	T	140581066	2	4	13	1	0	0	0	0	0	0	0	1	11575	639	23	1		1	PCDHB11	5	140581066	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	21839	140581066	40334194	220	3766											
PCDHGA8	9708	genome.wustl.edu	37	chr5	140772817	140772817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaaattaacgaaatcgCggttcctggagcacgttatc	14	10	9	8	4	0	0	0	0	0	0	3	2	1	1	1	2	2	4	1	2	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:140772817C>T	ENST00000398604.2	+	1	437	c.437C>T	c.(436-438)gCg>gTg	p.A146V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	146	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A146V(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGAAATCGCGGTTCCTGGA	0.448																																																	1	Substitution - Missense(1)	lung(1)											52	56	54					5																	140772817		1933	4151	6084	SO:0001583	missense	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.437C>T	5.37:g.140772817C>T	ENSP00000381605:p.Ala146Val		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A146V	ENST00000398604.2	37	c.437	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	12.60	1.987214	0.35036	.	.	ENSG00000253767	ENST00000398604	T	0.55588	0.51	5.41	5.41	0.78517	Cadherin (3);Cadherin-like (1);	0.699665	0.10826	U	0.629889	T	0.52370	0.1730	L	0.48935	1.535	0.26103	N	0.980788	B;B	0.22604	0.072;0.054	B;B	0.21151	0.033;0.016	T	0.47129	-0.9141	10	0.46703	T	0.11	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	146;146	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	146	ENSP00000381605:A146V	ENSP00000381605:A146V	A	+	2	0	PCDHGA8	140753001	0.051000	0.20477	0.873000	0.34254	0.683000	0.39861	3.317000	0.51968	2.552000	0.86080	0.655000	0.94253	GCG	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253767		0.448	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1		0	92	0	C	NM_032088		140772817	1			no_errors	ENST00000398604	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.684	T	T	140772817	C	T	140772817	3	4	13	1	0	0	0	0	1	0	0	0	11599	768	27	1	439	1	PCDHGA8	5	140772817	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	191751	140772817	40142443	221	3767											
POU4F3	5459	genome.wustl.edu	37	chr5	145719175	145719175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgccgaagctctggcggCggtggatatcgtctcccacg	6	7	14	14	7	2	0	0	0	2	0	4	2	2	1	2	4	1	1	2	4	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:145719175C>T	ENST00000230732.4	+	2	274	c.185C>T	c.(184-186)gCg>gTg	p.A62V	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	62					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTCTGGCGGCGGTGGATATC	0.602																																																	0													82	83	83					5																	145719175		2203	4300	6503	SO:0001583	missense	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.185C>T	5.37:g.145719175C>T	ENSP00000230732:p.Ala62Val		O60557|Q2M3F8	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A62V	ENST00000230732.4	37	c.185	CCDS4281.1	5	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991160	0.74703	.	.	ENSG00000091010	ENST00000230732	T	0.27557	1.66	4.63	4.63	0.57726	.	0.066998	0.64402	D	0.000017	T	0.39462	0.1079	M	0.83953	2.67	0.58432	D	0.999999	D	0.54601	0.967	B	0.40602	0.334	T	0.55761	-0.8090	10	0.62326	D	0.03	.	16.4058	0.83669	0.0:1.0:0.0:0.0	.	62	Q15319	PO4F3_HUMAN	V	62	ENSP00000230732:A62V	ENSP00000230732:A62V	A	+	2	0	POU4F3	145699368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.765000	0.68834	2.391000	0.81399	0.462000	0.41574	GCG	POU4F3	-	NULL	ENSG00000091010		0.602	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0	100	0	C	NM_002700		145719175	1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	missense	31.51	50	23	SNP	1.000	T	T	145719175	C	T	145719175	3	4	13	1	0	0	0	0	1	0	0	0	12319	768	27	1	191	1	POU4F3	5	145719175	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4946358	145719175	35196085	222	3768											
SPINK5	11005	genome.wustl.edu	37	chr5	147513406	147513406	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtacagggaagtgtgagGagagcagcaccccaggaacc	13	3	15	10	0	0	2	0	1	0	1	0	5	0	4	3	3	4	4	3	3	3	1	rs371879473		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:147513406G>T	ENST00000256084.7	+	32	3184	c.3142G>T	c.(3142-3144)Gag>Tag	p.E1048*	SPINK5_ENST00000359874.3_Nonsense_Mutation_p.E1078*	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	1048	Kazal-like 15. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGTGTGAGGAGAGCAGCAC	0.498																																																	0													82	95	91					5																	147513406		2129	4250	6379	SO:0001587	stop_gained	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.3142G>T	5.37:g.147513406G>T	ENSP00000256084:p.Glu1048*		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Nonsense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.E1078*	ENST00000256084.7	37	c.3232	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.431363	0.96150	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	.	.	.	4.93	2.09	0.27110	.	1.024280	0.07781	N	0.953306	.	.	.	.	.	.	0.43555	D	0.995866	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-1.557	5.0066	0.14291	0.1822:0.0:0.6511:0.1667	.	.	.	.	X	1078;1048	.	ENSP00000256084:E1048X	E	+	1	0	SPINK5	147493599	0.976000	0.34144	0.649000	0.29536	0.131000	0.20780	1.360000	0.34125	0.304000	0.22809	0.650000	0.86243	GAG	SPINK5	-	NULL	ENSG00000133710		0.498	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	-	0	104	0	G	NM_001127698		147513406	1	tier1	-	no_errors	ENST00000359874	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	0.866	T	T	147513406	G	T	147513406	4	4	13	1	0	0	0	0	0	1	0	0	15109	1175	41	3	3374	3	SPINK5	5	147513406	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1794231	147513406	33401854	223	3769											
CSF1R	1436	genome.wustl.edu	37	chr5	149441411	149441411	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcggacctggtacttgggcTtctgcagaagaggaagggag	10	7	17	7	1	1	2	0	0	1	2	1	5	1	5	1	5	3	3	1	5	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:149441411T>G	ENST00000286301.3	-	12	1919	c.1628A>C	c.(1627-1629)aAg>aCg	p.K543T	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	543	Regulatory juxtamembrane domain.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTACTTGGGCTTCTGCAGAAG	0.582																																																	0													146	144	145					5																	149441411		2203	4300	6503	SO:0001630	splice_region_variant	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1627-1A>C	5.37:g.149441411T>G			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K543T	ENST00000286301.3	37	c.1628	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008326	0.75046	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	D	0.96365	-3.99	4.56	4.56	0.56223	.	0.000000	0.52532	D	0.000077	D	0.98201	0.9405	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.982	D	0.99267	1.0892	10	0.87932	D	0	.	14.0888	0.64975	0.0:0.0:0.0:1.0	.	395;543	B4E2Y8;P07333	.;CSF1R_HUMAN	T	543;395	ENSP00000286301:K543T	ENSP00000286301:K543T	K	-	2	0	CSF1R	149421604	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.861000	0.62969	1.910000	0.55303	0.368000	0.22195	AAG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.582	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0	49	0	T	NM_005211	Missense_Mutation	149441411	-1			no_errors	ENST00000286301	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	G	G	149441411	T	G	149441411	5	3	13	1	0	0	0	0	0	0	1	0	3941	1623	56	4	1334	4	CSF1R	5	149441411	Splice_Site	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1928005	149441411	31473849	224	3770											
RPS14	6208	genome.wustl.edu	37	chr5	149827198	149827198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtcattgaaggatgcaaaGatatggcagacaccaaatac	16	8	10	7	0	1	3	1	1	0	2	1	4	1	4	1	2	2	2	1	2	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:149827198G>C	ENST00000401695.3	-	2	145	c.99C>G	c.(97-99)atC>atG	p.I33M	RPS14_ENST00000312037.5_Missense_Mutation_p.I33M|RPS14_ENST00000407193.1_Missense_Mutation_p.I33M			P62263	RS14_HUMAN	ribosomal protein S14	33					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGATGCAAAGATATGGCAGA	0.498																																																	0													123	112	115					5																	149827198		2203	4297	6500	SO:0001583	missense	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"S ribosomal proteins"	10387	protein-coding gene	gene with protein product	"emetine resistance", "40S ribosomal protein S14"	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.99C>G	5.37:g.149827198G>C	ENSP00000385958:p.Ile33Met		B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.I33M	ENST00000401695.3	37	c.99	CCDS4307.1	5	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560156	0.65538	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.04	1.67	0.24075	.	0.000000	0.85682	D	0.000000	D	0.86121	0.5857	H	0.97918	4.105	0.80722	D	1	P	0.42993	0.797	D	0.71184	0.972	D	0.83373	0.0008	9	0.87932	D	0	.	6.6962	0.23201	0.1739:0.0:0.6853:0.1408	.	33	P62263	RS14_HUMAN	M	33	.	ENSP00000311028:I33M	I	-	3	3	RPS14	149807391	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.372000	0.44257	0.181000	0.19994	0.557000	0.71058	ATC	RPS14	-	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	ENSG00000164587		0.498	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	-	0	105	0	G	NM_001025071		149827198	-1	tier1	-	no_errors	ENST00000312037	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	C	C	149827198	G	C	149827198	3	2	13	1	0	0	0	0	1	0	0	0	13669	932	33	5	372	5	RPS14	5	149827198	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	385787	149827198	31088062	225	3771											
FAT2	2196	genome.wustl.edu	37	chr5	150922227	150922227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgtccttgtcaatggCagtcacttgaatgactgagg	9	11	11	10	0	2	3	2	3	0	0	3	3	3	3	2	2	0	1	2	2	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:150922227C>A	ENST00000261800.5	-	9	8473	c.8461G>T	c.(8461-8463)Gcc>Tcc	p.A2821S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2821	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGTCAATGGCAGTCACTTGA	0.512																																																	0													112	102	105					5																	150922227		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8461G>T	5.37:g.150922227C>A	ENSP00000261800:p.Ala2821Ser		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A2821S	ENST00000261800.5	37	c.8461	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881184	0.72294	.	.	ENSG00000086570	ENST00000261800	T	0.61510	0.1	5.92	5.92	0.95590	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000007	D	0.85410	0.5690	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89231	0.3577	10	0.72032	D	0.01	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	2821	Q9NYQ8	FAT2_HUMAN	S	2821	ENSP00000261800:A2821S	ENSP00000261800:A2821S	A	-	1	0	FAT2	150902420	1.000000	0.71417	0.930000	0.37139	0.823000	0.46562	7.755000	0.85180	2.813000	0.96785	0.561000	0.74099	GCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	23	0	C	NM_001447		150922227	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.988	A	A	150922227	C	A	150922227	3	1	13	1	0	0	0	0	1	0	0	0	5712	710	25	3	4648	3	FAT2	5	150922227	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1095029	150922227	29993033	226	3772											
CCNJL	79616	genome.wustl.edu	37	chr5	159682680	159682680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaacacaggccgcagCgaccacagaaggctggaatt	12	3	12	14	2	0	1	0	0	0	1	0	3	0	2	4	4	2	2	4	4	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:159682680C>T	ENST00000393977.3	-	6	1048	c.763G>A	c.(763-765)Gct>Act	p.A255T	CCNJL_ENST00000519673.1_Missense_Mutation_p.A207T|CCNJL_ENST00000541762.1_Missense_Mutation_p.A206T|CCNJL_ENST00000257536.7_Missense_Mutation_p.A207T|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	255						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGCCGCAGCGACCACAGAA	0.557																																																	0													65	72	70					5																	159682680		1915	4118	6033	SO:0001583	missense	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.763G>A	5.37:g.159682680C>T	ENSP00000377547:p.Ala255Thr		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A255T	ENST00000393977.3	37	c.763	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741161	0.89573	.	.	ENSG00000135083	ENST00000393977;ENST00000257536;ENST00000519673;ENST00000541762	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.61	5.61	0.85477	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	0.975;0.995;1.0	P;P;D	0.97110	0.692;0.902;1.0	D	0.89171	0.3537	10	0.87932	D	0	-13.5249	19.2215	0.93799	0.0:1.0:0.0:0.0	.	207;207;255	E7EN43;B4DZA8;Q8IV13	.;.;CCNJL_HUMAN	T	255;207;207;206	ENSP00000377547:A255T;ENSP00000257536:A207T;ENSP00000427960:A207T;ENSP00000446367:A206T	ENSP00000257536:A207T	A	-	1	0	CCNJL	159615258	1.000000	0.71417	0.717000	0.30585	0.435000	0.31806	7.696000	0.84270	2.646000	0.89796	0.655000	0.94253	GCT	CCNJL	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000135083		0.557	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	-	0	39	0	C	NM_024565		159682680	-1	tier1	-	no_errors	ENST00000393977	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T	T	159682680	C	T	159682680	3	4	13	1	0	0	0	0	1	0	0	0	2936	768	27	1	552	1	CCNJL	5	159682680	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	8760453	159682680	21232580	227	3773											
GABRA1	2554	genome.wustl.edu	37	chr5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaacatgaccatgcccaaCaaactcctgcggatcacaga	15	5	6	15	1	1	2	1	1	0	1	2	3	2	3	3	1	5	0	3	1	3	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:161300296C>A	ENST00000428797.2	+	6	784	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_ENST00000420560.1_Missense_Mutation_p.N143K|GABRA1_ENST00000437025.2_Missense_Mutation_p.N143K|GABRA1_ENST00000393943.4_Missense_Mutation_p.N143K|GABRA1_ENST00000444819.1_Missense_Mutation_p.N143K|GABRA1_ENST00000023897.6_Missense_Mutation_p.N143K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	143					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCATGCCCAACAAACTCCTGC	0.473																																																	0													84	72	76					5																	161300296		2203	4300	6503	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.429C>A	5.37:g.161300296C>A	ENSP00000393097:p.Asn143Lys		D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.N143K	ENST00000428797.2	37	c.429	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809358	0.70797	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.85	1.07	0.20283	Neurotransmitter-gated ion-channel ligand-binding (3);	0.045450	0.85682	D	0.000000	D	0.84911	0.5577	H	0.95187	3.635	0.58432	D	0.999999	B	0.27229	0.172	B	0.31614	0.133	T	0.82121	-0.0614	10	0.87932	D	0	.	10.0361	0.42129	0.0:0.5643:0.0:0.4357	.	143	P14867	GBRA1_HUMAN	K	143	ENSP00000023897:N143K;ENSP00000393097:N143K;ENSP00000377517:N143K;ENSP00000415441:N143K;ENSP00000408041:N143K;ENSP00000414232:N143K	ENSP00000023897:N143K	N	+	3	2	GABRA1	161232874	0.982000	0.34865	0.997000	0.53966	0.984000	0.73092	0.280000	0.18790	0.108000	0.17862	-0.224000	0.12420	AAC	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000022355		0.473	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0	67	0	C	NM_000806.5		161300296	1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	missense	25.00	57	19	SNP	1.000	A	A	161300296	C	A	161300296	3	1	13	1	0	0	0	0	1	0	0	0	6184	477	17	3	443	3	GABRA1	5	161300296	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1617616	161300296	19614964	228	3774											
SLIT3	6586	genome.wustl.edu	37	chr5	168119626	168119626	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctgaatcctttgtcCagggggatgcacttggcctc	6	13	10	12	0	1	1	0	1	1	0	4	2	3	2	4	3	2	1	4	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:168119626C>A	ENST00000519560.1	-	29	3581	c.3162G>T	c.(3160-3162)ctG>ctT	p.L1054L	SLIT3_ENST00000404867.3_Silent_p.L1054L|SLIT3_ENST00000332966.8_Silent_p.L1061L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1054	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTTGTCCAGGGGGATGC	0.542																																					Ovarian(29;311 847 10864 17279 24903)												0													108	83	92					5																	168119626		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3162G>T	5.37:g.168119626C>A			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1054	ENST00000519560.1	37	c.3162	CCDS4369.1	5																																																																																			SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.542	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	-	0	43	0	C	NM_003062		168119626	-1	tier1	-	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	A	A	168119626	C	A	168119626	2	1	13	1	0	0	0	0	0	0	0	1	14786	581	21	3		3	SLIT3	5	168119626	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	6819330	168119626	12795634	229	3775											
SLIT3	6586	genome.wustl.edu	37	chr5	168119639	168119639	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgtccagggggatgcacTtggcctcatgctgacagagg	7	10	14	10	0	1	2	1	1	0	1	2	3	2	3	2	4	2	2	2	4	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:168119639T>G	ENST00000519560.1	-	29	3568	c.3149A>C	c.(3148-3150)aAg>aCg	p.K1050T	SLIT3_ENST00000404867.3_Missense_Mutation_p.K1050T|SLIT3_ENST00000332966.8_Missense_Mutation_p.K1057T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1050	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGGATGCACTTGGCCTCATG	0.552																																					Ovarian(29;311 847 10864 17279 24903)												0													118	88	99					5																	168119639		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3149A>C	5.37:g.168119639T>G	ENSP00000430333:p.Lys1050Thr		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1050T	ENST00000519560.1	37	c.3149	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	T	15.28	2.786344	0.49997	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91894	-2.93;-2.93;-2.93	5.0	5.0	0.66597	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.044227	0.85682	D	0.000000	D	0.85362	0.5679	N	0.10874	0.06	0.80722	D	1	B	0.20671	0.047	B	0.32393	0.145	T	0.81564	-0.0875	10	0.35671	T	0.21	.	13.9061	0.63836	0.0:0.0:0.0:1.0	.	1050	O75094	SLIT3_HUMAN	T	1050;1057;1050	ENSP00000430333:K1050T;ENSP00000332164:K1057T;ENSP00000384890:K1050T	ENSP00000332164:K1057T	K	-	2	0	SLIT3	168052217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.443000	0.80521	1.881000	0.54492	0.528000	0.53228	AAG	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.552	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	63	0	T	NM_003062		168119639	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	G	G	168119639	T	G	168119639	3	3	13	1	0	0	0	0	1	0	0	0	14786	1609	56	4	1454	4	SLIT3	5	168119639	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	13	168119639	12795621	230	3776											
NOP16	51491	genome.wustl.edu	37	chr5	175813851	175813851	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacccaccattcagcacAtagggcttccgtacaagctc	11	7	6	17	1	1	0	1	0	0	0	3	0	2	0	4	1	3	4	4	1	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:175813851A>T	ENST00000389158.5	-	3	711	c.276T>A	c.(274-276)taT>taA	p.Y92*	NOP16_ENST00000509257.1_Nonsense_Mutation_p.Y92*|NOP16_ENST00000510123.1_Nonsense_Mutation_p.Y92*|NOP16_ENST00000507413.1_Intron|HIGD2A_ENST00000274787.2_5'Flank			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	92						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CATTCAGCACATAGGGCTTCC	0.512																																																	0													137	139	138					5																	175813851		1999	4164	6163	SO:0001587	stop_gained	0				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.276T>A	5.37:g.175813851A>T	ENSP00000373810:p.Tyr92*		B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Nonsense_Mutation	SNP	pfam_Ribosome_biogenesis_Nop16	p.Y92*	ENST00000389158.5	37	c.276	CCDS43403.1	5	.	.	.	.	.	.	.	.	.	.	A	38	6.848487	0.97885	.	.	ENSG00000048162	ENST00000389158;ENST00000510123;ENST00000341213;ENST00000451293;ENST00000509257	.	.	.	5.88	3.54	0.40534	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0289	0.19669	0.7477:0.0:0.2523:0.0	.	.	.	.	X	92;92;67;92;92	.	ENSP00000340662:Y67X	Y	-	3	2	NOP16	175746457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.291000	0.33330	1.059000	0.40554	0.533000	0.62120	TAT	NOP16	-	pfam_Ribosome_biogenesis_Nop16	ENSG00000048162		0.512	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP16	HGNC	protein_coding	OTTHUMT00000371963.1	-	0	120	0	A	NM_016391		175813851	-1	tier1	-	no_errors	ENST00000389158	ensembl	human	known	74_37	nonsense	30.00	35	15	SNP	1.000	T	T	175813851	A	T	175813851	4	4	13	1	0	0	0	0	0	1	0	0	10576	224	8	5	271	5	NOP16	5	175813851	Nonsense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7694212	175813851	5101409	231	3777											
DOK3	79930	genome.wustl.edu	37	chr5	176936846	176936846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgcagtctggctcccCgagtcatgagttcccgcccc	5	9	10	17	3	2	2	1	2	1	0	5	3	4	2	5	1	0	3	5	1	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr5:176936846C>G	ENST00000357198.4	-	1	12	c.8G>C	c.(7-9)cGg>cCg	p.R3P	DOK3_ENST00000501403.2_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000312943.6_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	3					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCTGGCTCCCCGAGTCATGAG	0.701																																																	0													43	43	43					5																	176936846		2202	4300	6502	SO:0001583	missense	0			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.8G>C	5.37:g.176936846C>G	ENSP00000349727:p.Arg3Pro		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.R3P	ENST00000357198.4	37	c.8	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	T	6.229	0.410341	0.11812	.	.	ENSG00000146094	ENST00000357198	T	0.21191	2.02	2.37	2.37	0.29283	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.23050	N	0.998376	B	0.06786	0.001	B	0.01281	0.0	T	0.27806	-1.0063	9	0.52906	T	0.07	-18.3363	4.3443	0.11126	0.0:0.17:0.0:0.83	.	3	Q7L591	DOK3_HUMAN	P	3	ENSP00000349727:R3P	ENSP00000349727:R3P	R	-	2	0	DOK3	176869452	0.001000	0.12720	0.210000	0.23637	0.015000	0.08874	0.262000	0.18460	0.326000	0.23384	-0.665000	0.03846	CGG	DOK3	-	NULL	ENSG00000146094		0.701	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	-	0	12	0	C	NM_024872		176936846	-1	tier1	-	no_errors	ENST00000357198	ensembl	human	known	74_37	missense	55.56	4	5	SNP	0.296	G	G	176936846	C	G	176936846	3	3	13	1	0	0	0	0	1	0	0	0	4712	652	23	5	1858	5	DOK3	5	176936846	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1122995	176936846	3978414	232	3778											
FOXF2	2295	genome.wustl.edu	37	chr6	1390986	1390986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgcgcaccctcaccaccaCcaccaccaccacgtcccgca	10	2	4	25	4	1	0	1	0	0	0	2	0	2	0	8	0	0	2	8	0	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:1390986C>T	ENST00000259806.1	+	1	918	c.804C>T	c.(802-804)caC>caT	p.H268H		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	268	Poly-His.				embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTcaccaccaccaccaccacc	0.766																																																	0													2	3	2					6																	1390986		1087	2196	3283	SO:0001819	synonymous_variant	0			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.804C>T	6.37:g.1390986C>T			Q5TGJ1|Q9UQ85	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.H268	ENST00000259806.1	37	c.804	CCDS4472.1	6																																																																																			FOXF2	-	NULL	ENSG00000137273		0.766	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	HGNC	protein_coding	OTTHUMT00000043558.1	-	0	10	0	C			1390986	1	tier1	-	no_errors	ENST00000259806	ensembl	human	known	74_37	silent	66.67	2	4	SNP	1.000	T	T	1390986	C	T	1390986	2	4	13	1	0	0	0	0	0	0	0	1	6030	506	18	3		3	FOXF2	6	1390986	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09		1390986	169724081	233	3779											
SNRNP48	154007	genome.wustl.edu	37	chr6	7605703	7605703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagagcaagagaaggcaGaggatgatgccgaaaagtac	19	3	14	5	1	0	5	0	1	0	4	0	8	0	6	1	2	3	3	1	2	7	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:7605703G>A	ENST00000342415.5	+	7	849	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	264					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAGAAGGCAGAGGATGATGC	0.368																																																	0													120	103	109					6																	7605703		2203	4300	6503	SO:0001583	missense	0			AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"U11/U12 snRNP 48K"		"chromosome 6 open reading frame 151"	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.790G>A	6.37:g.7605703G>A	ENSP00000339834:p.Glu264Lys		A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E264K	ENST00000342415.5	37	c.790	CCDS4502.1	6	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214493	0.39102	.	.	ENSG00000168566	ENST00000342415	T	0.33438	1.41	5.94	5.05	0.67936	.	0.636414	0.16674	N	0.204240	T	0.06234	0.0161	L	0.33485	1.01	0.09310	N	1	P	0.35433	0.501	B	0.27608	0.081	T	0.19451	-1.0305	10	0.09084	T	0.74	-9.3997	8.355	0.32324	0.0812:0.1577:0.761:0.0	.	264	Q6IEG0	SNR48_HUMAN	K	264	ENSP00000339834:E264K	ENSP00000339834:E264K	E	+	1	0	SNRNP48	7550702	0.998000	0.40836	0.005000	0.12908	0.386000	0.30323	4.044000	0.57361	1.471000	0.48121	0.561000	0.74099	GAG	SNRNP48	-	NULL	ENSG00000168566		0.368	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP48	HGNC	protein_coding	OTTHUMT00000039787.3	-	0	61	0	G	NM_152551		7605703	1	tier1	-	no_errors	ENST00000342415	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.053	A	A	7605703	G	A	7605703	3	1	13	1	0	0	0	0	1	0	0	0	14902	943	33	3	816	3	SNRNP48	6	7605703	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6214717	7605703	163509364	234	3780											
GCM2	9247	genome.wustl.edu	37	chr6	10874965	10874965	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatagattcttgggcttgAgtatttctggaagggtggca	10	13	13	5	0	2	2	0	1	2	1	2	3	2	3	0	4	0	3	0	4	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:10874965A>T	ENST00000379491.4	-	5	931	c.784T>A	c.(784-786)Tca>Aca	p.S262T	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	262					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTTGGGCTTGAGTATTTCTGG	0.463																																																	0													170	163	166					6																	10874965		2203	4300	6503	SO:0001583	missense	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.784T>A	6.37:g.10874965A>T	ENSP00000368805:p.Ser262Thr		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.S262T	ENST00000379491.4	37	c.784	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	A	8.870	0.949093	0.18356	.	.	ENSG00000124827	ENST00000379491	T	0.68025	-0.3	5.35	1.47	0.22746	.	0.369337	0.33772	N	0.004562	T	0.22627	0.0546	N	0.17474	0.49	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05886	-1.0858	10	0.23302	T	0.38	-0.0249	4.5567	0.12140	0.2111:0.0:0.4233:0.3656	.	262	O75603	GCM2_HUMAN	T	262	ENSP00000368805:S262T	ENSP00000368805:S262T	S	-	1	0	GCM2	10982951	0.701000	0.27806	0.992000	0.48379	0.462000	0.32619	0.097000	0.15168	0.042000	0.15717	-1.117000	0.02048	TCA	GCM2	-	NULL	ENSG00000124827		0.463	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1		0	100	0	A			10874965	-1			no_errors	ENST00000379491	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.970	T	T	10874965	A	T	10874965	3	4	13	1	0	0	0	0	1	0	0	0	6323	304	11	5	740	5	GCM2	6	10874965	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3269262	10874965	160240102	235	3781											
FAM65B	9750	genome.wustl.edu	37	chr6	24839446	24839446	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaaagctttctaaagcacTttcaactgtgagacttaaac	15	12	5	9	0	3	1	2	1	1	1	3	2	3	1	0	0	4	2	0	0	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:24839446T>C	ENST00000259698.4	-	15	2150	c.1975A>G	c.(1975-1977)Agt>Ggt	p.S659G	FAM65B_ENST00000538035.1_Missense_Mutation_p.S638G|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000473070.1_5'Flank	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	659					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TCTAAAGCACTTTCAACTGTG	0.468																																																	0													86	76	79					6																	24839446		692	1591	2283	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1975A>G	6.37:g.24839446T>C	ENSP00000259698:p.Ser659Gly		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S659G	ENST00000259698.4	37	c.1975	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	T	21.0	4.085297	0.76642	.	.	ENSG00000111913	ENST00000259698;ENST00000538035	T;T	0.42131	0.98;0.98	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.58101	1.795	0.80722	D	1	P;P	0.42692	0.787;0.787	P;B	0.46585	0.521;0.397	T	0.19224	-1.0312	10	0.41790	T	0.15	-19.3204	16.2879	0.82732	0.0:0.0:0.0:1.0	.	638;659	F5GX51;Q9Y4F9	.;FA65B_HUMAN	G	659;638	ENSP00000259698:S659G;ENSP00000441138:S638G	ENSP00000259698:S659G	S	-	1	0	FAM65B	24947425	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.353000	0.79414	2.242000	0.73789	0.533000	0.62120	AGT	FAM65B	-	NULL	ENSG00000111913		0.468	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0	55	0	T			24839446	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	C	C	24839446	T	C	24839446	3	2	13	1	0	0	0	0	1	0	0	0	5622	1609	56	4	1267	4	FAM65B	6	24839446	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	13964481	24839446	146275621	236	3782											
HIST1H2BI	8346	genome.wustl.edu	37	chr6	26273373	26273373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccccgacaccggcatctcgtCcaaggctatggggattatga	9	8	11	13	3	1	1	0	1	1	0	3	3	2	2	4	4	0	2	4	4	3	2	rs544359637		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:26273373C>G	ENST00000377733.2	+	1	230	c.170C>G	c.(169-171)tCc>tGc	p.S57C	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	57					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GGCATCTCGTCCAAGGCTATG	0.562																																																	0													209	199	202					6																	26273373		2203	4300	6503	SO:0001583	missense	0			Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"Histones / Replication-dependent"	4756	protein-coding gene	gene with protein product		602807	"H2B histone family, member K", "histone 1, H2bi"	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.170C>G	6.37:g.26273373C>G	ENSP00000366962:p.Ser57Cys		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S57C	ENST00000377733.2	37	c.170	CCDS4603.1	6	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432046	0.62844	.	.	ENSG00000168242	ENST00000377733	T	0.71934	-0.61	4.5	4.5	0.54988	.	.	.	.	.	D	0.88901	0.6563	H	0.98388	4.22	0.35755	D	0.819739	.	.	.	.	.	.	D	0.93772	0.7076	7	0.87932	D	0	.	15.8093	0.78543	0.0:1.0:0.0:0.0	.	.	.	.	C	57	ENSP00000366962:S57C	ENSP00000366962:S57C	S	+	2	0	HIST1H2BI	26381352	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	5.766000	0.68843	2.058000	0.61347	0.563000	0.77884	TCC	HIST1H2BI	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000168242		0.562	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BI	HGNC	protein_coding	OTTHUMT00000040111.1	-	0	153	0	C	NM_003525		26273373	1	tier1	-	no_errors	ENST00000377733	ensembl	human	known	74_37	missense	24.35	145	47	SNP	1.000	G	G	26273373	C	G	26273373	3	3	13	1	0	0	0	0	1	0	0	0	7175	855	30	5	172	5	HIST1H2BI	6	26273373	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1433927	26273373	144841694	237	3783											
PGBD1	84547	genome.wustl.edu	37	chr6	28269577	28269577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggtgagggcaacaggaaCaattcgtgagaacaggaccg	13	4	17	7	2	0	2	0	2	0	1	1	5	0	4	1	5	3	1	1	5	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:28269577C>G	ENST00000405948.2	+	7	2366	c.1946C>G	c.(1945-1947)aCa>aGa	p.T649R	PGBD1_ENST00000259883.3_Missense_Mutation_p.T649R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	649						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAACAGGAACAATTCGTGAG	0.388																																																	0													103	98	99					6																	28269577		2203	4300	6503	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1946C>G	6.37:g.28269577C>G	ENSP00000385213:p.Thr649Arg		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.T649R	ENST00000405948.2	37	c.1946	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	C	10.53	1.377071	0.24857	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.23348	1.91;1.91	4.84	2.95	0.34219	.	0.807978	0.09802	N	0.754017	T	0.33644	0.0870	M	0.77313	2.365	0.24179	N	0.995599	D	0.59767	0.986	D	0.72075	0.976	T	0.11397	-1.0589	10	0.72032	D	0.01	-0.6245	6.7633	0.23552	0.0:0.7737:0.0:0.2263	.	649	Q96JS3	PGBD1_HUMAN	R	649	ENSP00000385213:T649R;ENSP00000259883:T649R	ENSP00000259883:T649R	T	+	2	0	PGBD1	28377556	0.997000	0.39634	0.121000	0.21740	0.845000	0.48019	1.626000	0.37039	0.683000	0.31428	-0.345000	0.07892	ACA	PGBD1	-	NULL	ENSG00000137338		0.388	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2		0	61	0	C			28269577	1			no_errors	ENST00000259883	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.855	G	G	28269577	C	G	28269577	3	3	13	1	0	0	0	0	1	0	0	0	11819	478	17	5	1968	5	PGBD1	6	28269577	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1996204	28269577	142845490	238	3784											
SCAND3	114821	genome.wustl.edu	37	chr6	28540334	28540334	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcattaagatcattaaaaAtactgaagatatcagacaaa	22	9	5	5	0	2	4	2	1	0	3	2	4	2	4	0	0	2	1	0	0	9	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:28540334A>C	ENST00000452236.2	-	4	3949	c.3332T>G	c.(3331-3333)aTt>aGt	p.I1111S		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atcattaaaaatactgaagat	0.358																																																	0													59	62	61					6																	28540334		2196	4293	6489	SO:0001583	missense	0																														ENST00000452236.2:c.3332T>G	6.37:g.28540334A>C	ENSP00000395259:p.Ile1111Ser			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.I1111S	ENST00000452236.2	37	c.3332	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	A	9.016	0.983648	0.18889	.	.	ENSG00000232040	ENST00000452236	T	0.21191	2.02	2.53	2.53	0.30540	Ribonuclease H-like (1);	1.847310	0.03664	N	0.243048	T	0.16385	0.0394	L	0.29908	0.895	0.29588	N	0.84865	D	0.58970	0.984	D	0.70487	0.969	T	0.22906	-1.0203	10	0.22109	T	0.4	.	6.9733	0.24660	1.0:0.0:0.0:0.0	.	1111	Q6R2W3	SCND3_HUMAN	S	1111	ENSP00000395259:I1111S	ENSP00000395259:I1111S	I	-	2	0	SCAND3	28648313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.260000	0.43267	1.405000	0.46838	0.533000	0.62120	ATT	SCAND3	-	superfamily_RNaseH-like_dom	ENSG00000232040		0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0	38	0	A			28540334	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C	C	28540334	A	C	28540334	3	2	13	1	0	0	0	0	1	0	0	0	13921	101	4	4	649	4	SCAND3	6	28540334	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	270757	28540334	142574733	239	3785											
OR2J3	442186	genome.wustl.edu	37	chr6	29080488	29080488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaaattctcaagatcaagGcaagttcattgccctctttt	12	13	7	9	0	4	1	3	0	2	1	5	2	4	2	1	2	1	2	1	2	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:29080488G>A	ENST00000377169.1	+	1	821	c.821G>A	c.(820-822)gGc>gAc	p.G274D		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CAAGATCAAGGCAAGTTCATT	0.433																																																	0													103	105	104					6																	29080488		1247	2545	3792	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.821G>A	6.37:g.29080488G>A	ENSP00000366374:p.Gly274Asp		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G274D	ENST00000377169.1	37	c.821	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	G	9.684	1.150044	0.21371	.	.	ENSG00000204701	ENST00000377169	T	0.00020	9.04	3.02	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.13043	0.29	0.09310	N	1	B	0.24675	0.109	B	0.33750	0.169	T	0.06881	-1.0802	9	0.56958	D	0.05	.	5.8593	0.18736	0.5856:0.0:0.4144:0.0	.	274	O76001	OR2J3_HUMAN	D	274	ENSP00000366374:G274D	ENSP00000366374:G274D	G	+	2	0	OR2J3	29188467	0.000000	0.05858	0.790000	0.31976	0.920000	0.55202	0.099000	0.15210	0.131000	0.18576	0.436000	0.28706	GGC	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204701		0.433	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	-	0	25	0	G			29080488	1	tier1	-	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.014	A	A	29080488	G	A	29080488	3	1	13	1	0	0	0	0	1	0	0	0	11043	1203	42	3	823	3	OR2J3	6	29080488	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	540154	29080488	142034579	240	3786											
C6orf47	57827	genome.wustl.edu	37	chr6	31626855	31626855	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtcacagcccctttccCgggtctcccctctgctcctc	3	10	7	21	2	3	0	1	0	2	0	7	0	5	0	6	2	2	1	6	2	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:31626855C>G	ENST00000375911.1	-	1	1694	c.870G>C	c.(868-870)ccG>ccC	p.P290P	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	290						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GCCCCTTTCCCGGGTCTCCCC	0.607																																																	0													87	94	92					6																	31626855		1509	2709	4218	SO:0001819	synonymous_variant	0			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.870G>C	6.37:g.31626855C>G			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	NULL	p.P290	ENST00000375911.1	37	c.870	CCDS34399.1	6	.	.	.	.	.	.	.	.	.	.	C	4.161	0.028271	0.08054	.	.	ENSG00000204439	ENST00000538106	.	.	.	5.25	-6.21	0.02065	.	.	.	.	.	T	0.09642	0.0237	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.28681	-1.0036	4	.	.	.	0.1211	6.2928	0.21069	0.0:0.3431:0.2375:0.4194	.	.	.	.	P	289	.	.	R	-	2	0	C6orf47	31734834	0.000000	0.05858	0.001000	0.08648	0.714000	0.41099	-2.071000	0.01378	-1.276000	0.02414	-1.002000	0.02502	CGG	C6orf47	-	NULL	ENSG00000204439		0.607	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47	HGNC	protein_coding	OTTHUMT00000076324.1	-	0	75	0	C	NM_021184		31626855	-1	tier1	-	no_errors	ENST00000375911	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.000	G	G	31626855	C	G	31626855	2	3	13	1	0	0	0	0	0	0	0	1	2371	639	23	5		5	C6orf47	6	31626855	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2546367	31626855	139488212	241	3787											
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713088	32713088	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtttagcaaatttataAgttttgacccgcagagtgca	12	14	8	7	1	0	2	0	1	0	1	0	2	0	2	1	0	2	5	1	0	5	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:32713088A>C	ENST00000374940.3	+	2	337	c.235A>C	c.(235-237)Agt>Cgt	p.S79R		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	79	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CAAATTTATAAGTTTTGACCC	0.468																																																	0													130	128	128					6																	32713088		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.235A>C	6.37:g.32713088A>C	ENSP00000364076:p.Ser79Arg		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S79R	ENST00000374940.3	37	c.235	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	3.275	-0.148273	0.06627	.	.	ENSG00000237541	ENST00000374940	T	0.00864	5.6	3.03	-4.88	0.03113	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	1.162740	0.06270	N	0.695516	T	0.00412	0.0013	L	0.49513	1.565	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.32241	-0.9914	10	0.32370	T	0.25	.	9.694	0.40145	0.4294:0.0:0.5706:0.0	.	79	P01906	DQA2_HUMAN	R	79	ENSP00000364076:S79R	ENSP00000364076:S79R	S	+	1	0	HLA-DQA2	32821066	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.345000	0.07770	-1.192000	0.02691	-1.278000	0.01390	AGT	HLA-DQA2	-	pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N	ENSG00000237541		0.468	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0	102	0	A	NM_020056		32713088	1	tier1	-	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.001	C	C	32713088	A	C	32713088	3	2	13	1	0	0	0	0	1	0	0	0	7232	72	3	4	241	4	HLA-DQA2	6	32713088	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1086233	32713088	138401979	242	3788											
C6orf126	389383	genome.wustl.edu	37	chr6	35745305	35745305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatggacttggactccGgtggagccttctgtgccccc	4	10	12	15	1	2	0	1	0	1	0	3	3	3	3	5	4	2	0	5	4	0	2	rs111605439	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:35745305G>T	ENST00000403376.3	+	2	154	c.154G>T	c.(154-156)Ggt>Tgt	p.G52C	CLPSL2_ENST00000360454.2_Missense_Mutation_p.G52C|CLPSL2_ENST00000481904.1_3'UTR	NM_207409.2	NP_997292.2	Q6UWE3	COLL2_HUMAN	colipase-like 2	52					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CTTGGACTCCGGTGGAGCCTT	0.577																																																	0													66	60	62					6																	35745305		2203	4300	6503	SO:0001583	missense	0				CCDS4810.2, CCDS69095.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000196748	ENSG00000196748			21250	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 126"	C6orf126			Standard	NM_001286550		Approved	dJ510O8.5, UNQ3045	uc010jvz.1	Q6UWE3	OTTHUMG00000014581	ENST00000403376.3:c.154G>T	6.37:g.35745305G>T	ENSP00000385898:p.Gly52Cys		B0QZ45|Q5T9G3	Missense_Mutation	SNP	NULL	p.G52C	ENST00000403376.3	37	c.154	CCDS4810.2	6	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189156	0.38707	.	.	ENSG00000196748	ENST00000360454;ENST00000403376	.	.	.	3.41	-0.516	0.11950	.	0.659767	0.12566	N	0.457726	T	0.36991	0.0987	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.12915	-1.0529	9	0.72032	D	0.01	-6.9945	6.1729	0.20427	0.5181:0.0:0.4819:0.0	.	52;52	Q6UWE3;Q6UWE3-2	CF126_HUMAN;.	C	52	.	ENSP00000353639:G52C	G	+	1	0	C6orf126	35853283	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	0.012000	0.13287	-0.140000	0.11394	0.561000	0.74099	GGT	CLPSL2	-	NULL	ENSG00000196748		0.577	CLPSL2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPSL2	HGNC	protein_coding	OTTHUMT00000280618.2	-	0	62	0	G	NM_207409		35745305	1	tier1	-	no_errors	ENST00000360454	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.000	T	T	35745305	G	T	35745305	3	4	13	1	0	0	0	0	1	0	0	0	2333	1116	39	2	160	2	C6orf126	6	35745305	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3032217	35745305	135369762	243	3789											
TRERF1	55809	genome.wustl.edu	37	chr6	42237087	42237087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccccaccctccctgcCtcgaggtatccatttggcca	6	10	7	18	1	0	0	0	0	0	0	4	2	3	0	7	2	1	1	7	2	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:42237087C>G	ENST00000372922.4	-	5	804	c.242G>C	c.(241-243)aGg>aCg	p.R81T	TRERF1_ENST00000372917.4_Missense_Mutation_p.R81T|TRERF1_ENST00000340840.2_Missense_Mutation_p.R81T|TRERF1_ENST00000541110.1_Missense_Mutation_p.R81T|TRERF1_ENST00000354325.2_Missense_Mutation_p.R81T	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	81					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCTCCCTGCCTCGAGGTATC	0.592																																																	0													121	114	116					6																	42237087		2203	4300	6503	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.242G>C	6.37:g.42237087C>G	ENSP00000362013:p.Arg81Thr		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R81T	ENST00000372922.4	37	c.242	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422537	0.62622	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.17370	2.52;2.28;2.45;2.28;2.28	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000003	T	0.21674	0.0522	L	0.32530	0.975	0.35835	D	0.825625	D;D;D	0.71674	0.998;0.972;0.972	D;P;P	0.77557	0.99;0.875;0.875	T	0.01492	-1.1341	10	0.59425	D	0.04	-22.9592	14.5072	0.67761	0.1467:0.8533:0.0:0.0	.	81;81;81	Q96PN7-4;Q05GC8;Q96PN7	.;.;TREF1_HUMAN	T	81	ENSP00000439689:R81T;ENSP00000362008:R81T;ENSP00000362013:R81T;ENSP00000339438:R81T;ENSP00000346285:R81T	ENSP00000339438:R81T	R	-	2	0	TRERF1	42345065	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.089000	0.50183	2.664000	0.90586	0.561000	0.74099	AGG	TRERF1	-	NULL	ENSG00000124496		0.592	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0	73	0	C	NM_033502		42237087	-1	tier1	-	no_errors	ENST00000541110	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.995	G	G	42237087	C	G	42237087	3	3	13	1	0	0	0	0	1	0	0	0	16523	681	24	5	3416	5	TRERF1	6	42237087	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	6491782	42237087	128877980	244	3790											
CUL9	23113	genome.wustl.edu	37	chr6	43160940	43160940	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcttggtgcagcaggctggGctggcggtgagtacattggg	5	10	19	7	1	1	1	0	1	1	0	1	1	1	1	0	6	3	5	0	6	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:43160940G>T	ENST00000252050.4	+	9	2466	c.2382G>T	c.(2380-2382)ggG>ggT	p.G794G	CUL9_ENST00000372647.2_Silent_p.G794G|CUL9_ENST00000354495.3_Silent_p.G684G	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	794					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCAGGCTGGGCTGGCGGTGA	0.567																																																	0													89	89	89					6																	43160940		2202	4299	6501	SO:0001819	synonymous_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2382G>T	6.37:g.43160940G>T			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.G794	ENST00000252050.4	37	c.2382	CCDS4890.1	6																																																																																			CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0	31	0	G	NM_015089		43160940	1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.831	T	T	43160940	G	T	43160940	2	4	13	1	0	0	0	0	0	0	0	1	4070	1190	42	3		3	CUL9	6	43160940	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	923853	43160940	127954127	245	3791											
CRISP3	10321	genome.wustl.edu	37	chr6	49698876	49698876	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatcacttcaaacttacTgcatagtccatcgtcacagt	12	13	5	11	1	3	0	3	0	0	0	5	0	4	0	1	0	3	2	1	0	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:49698876T>A	ENST00000393666.1	-	6	616	c.610A>T	c.(610-612)Acc>Tcc	p.T204S	CRISP3_ENST00000371159.4_Splice_Site_p.T235S|CRISP3_ENST00000433368.2_Splice_Site_p.T227S|CRISP3_ENST00000263045.4_Splice_Site_p.T217S|CRISP3_ENST00000423399.2_Splice_Site_p.T114S			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	204					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCAAACTTACTGCATAGTCCA	0.363																																																	0													94	87	90					6																	49698876		2203	4300	6503	SO:0001630	splice_region_variant	0			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.610+1A>T	6.37:g.49698876T>A			A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.T227S	ENST00000393666.1	37	c.679		6	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187082	0.57909	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.14391	3.09;3.08;3.1;2.51;3.08	4.96	4.96	0.65561	Cysteine-rich secretory protein (1);	0.081824	0.47852	U	0.000217	T	0.14356	0.0347	M	0.93328	3.405	0.35278	D	0.781078	B	0.24675	0.109	B	0.23150	0.044	T	0.07328	-1.0778	9	.	.	.	.	11.2835	0.49208	0.0:0.0:0.0:1.0	.	204	P54108	CRIS3_HUMAN	S	217;227;204;114;235	ENSP00000263045:T217S;ENSP00000389026:T227S;ENSP00000377274:T204S;ENSP00000410469:T114S;ENSP00000360201:T235S	.	T	-	1	0	CRISP3	49806835	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	4.767000	0.62286	1.993000	0.58246	0.402000	0.26972	ACC	CRISP3	-	pfam_Cysteine_rich_secretory	ENSG00000096006		0.363	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	HGNC	protein_coding			0	65	0	T	NM_006061	Missense_Mutation	49698876	-1			no_errors	ENST00000433368	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	49698876	T	A	49698876	5	1	13	1	0	0	0	0	0	0	1	0	3888	1594	55	5	135	5	CRISP3	6	49698876	Splice_Site	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6537936	49698876	121416191	246	3792											
DEFB110	245913	genome.wustl.edu	37	chr6	49986804	49986804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgcactctctcctcaaGtccaagctaccatactcagg	10	11	5	15	0	4	0	2	0	2	0	7	0	6	0	3	1	4	2	3	1	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:49986804G>A	ENST00000371148.2	-	2	135	c.90C>T	c.(88-90)gaC>gaT	p.D30D	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	30					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					CTCTCCTCAAGTCCAAGCTAC	0.373																																																	0													166	154	158					6																	49986804		2203	4300	6503	SO:0001819	synonymous_variant	0			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"Defensins, beta"	18091	protein-coding gene	gene with protein product			"defensin, beta 110"			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.90C>T	6.37:g.49986804G>A			Q30KR0	Silent	SNP	NULL	p.D30	ENST00000371148.2	37	c.90	CCDS34475.1	6																																																																																			DEFB110	-	NULL	ENSG00000203970		0.373	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB110	HGNC	protein_coding	OTTHUMT00000359664.1	-	0	49	0	G	NM_001037728		49986804	-1	tier1	-	no_errors	ENST00000371148	ensembl	human	known	74_37	silent	43.75	36	28	SNP	0.654	A	A	49986804	G	A	49986804	2	1	13	1	0	0	0	0	0	0	0	1	4413	1020	36	3		3	DEFB110	6	49986804	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	287928	49986804	121128263	247	3793											
DST	667	genome.wustl.edu	37	chr6	56437847	56437847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgctctgacgacctgcaaTatcctgttccaacatctaaa	12	11	5	13	1	2	1	0	1	2	0	4	2	4	1	3	0	3	3	3	0	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:56437847T>C	ENST00000361203.3	-	48	12626	c.12619A>G	c.(12619-12621)Att>Gtt	p.I4207V	DST_ENST00000244364.6_Missense_Mutation_p.I1795V|DST_ENST00000446842.2_Missense_Mutation_p.I3883V|DST_ENST00000312431.6_Missense_Mutation_p.Y4189C|DST_ENST00000370788.2_Missense_Mutation_p.I2121V|DST_ENST00000421834.2_Missense_Mutation_p.I2121V|DST_ENST00000370769.4_Missense_Mutation_p.I4209V|DST_ENST00000370754.5_Missense_Mutation_p.I4387V			Q03001	DYST_HUMAN	dystonin	4207					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGACCTGCAATATCCTGTTCC	0.318																																																	0													85	69	74					6																	56437847		1845	4098	5943	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12619A>G	6.37:g.56437847T>C	ENSP00000354508:p.Ile4207Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.I4387V	ENST00000361203.3	37	c.13159		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.449767|3.449767	0.63290|0.63290	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203|ENST00000312431	T;T;T;T;T;T;T|T	0.37235|0.81247	1.21;1.21;1.21;1.21;1.21;1.21;1.21|-1.47	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.50627|.	D|.	0.000108|.	D|D	0.84741|0.84741	0.5539|0.5539	M|M	0.75264|0.75264	2.295|2.295	.|.	.|.	.|.	P;D;P;P;P|.	0.56521|.	0.93;0.976;0.932;0.59;0.678|.	D;P;D;B;P|.	0.65874|.	0.919;0.864;0.939;0.243;0.55|.	D|D	0.87385|0.87385	0.2359|0.2359	9|6	0.23302|0.72032	T|D	0.38|0.01	.|.	15.4555|15.4555	0.75311|0.75311	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2121;4209;4387;4207;1795|.	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8|.	.;.;.;DYST_HUMAN;.|.	V|C	1795;4387;4209;2121;3883;2121;4207|4189	ENSP00000244364:I1795V;ENSP00000359790:I4387V;ENSP00000359805:I4209V;ENSP00000400883:I2121V;ENSP00000393645:I3883V;ENSP00000359824:I2121V;ENSP00000354508:I4207V|ENSP00000307959:Y4189C	ENSP00000244364:I1795V|ENSP00000307959:Y4189C	I|Y	-|-	1|2	0|0	DST|DST	56545806|56545806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.751000|4.751000	0.62169|0.62169	2.105000|2.105000	0.64084|0.64084	0.455000|0.455000	0.32223|0.32223	ATT|TAT	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	34	0	T	NM_001723		56437847	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	C	C	56437847	T	C	56437847	3	2	13	1	0	0	0	0	1	0	0	0	4797	1406	49	4	10340	4	DST	6	56437847	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6451043	56437847	114677220	248	3794											
DST	667	genome.wustl.edu	37	chr6	56507454	56507454	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattcactgccgaagctaaTgcaagagttgatcagtgttg	11	11	12	7	1	2	2	2	1	0	1	2	4	2	3	1	1	3	4	1	1	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:56507454T>C	ENST00000244364.6	-	1	340	c.133A>G	c.(133-135)Att>Gtt	p.I45V	DST_ENST00000446842.2_Missense_Mutation_p.I45V|DST_ENST00000312431.6_Intron|DST_ENST00000370765.6_Missense_Mutation_p.I45V|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000518935.1_Missense_Mutation_p.I45V|DST_ENST00000370754.5_Intron	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCGAAGCTAATGCAAGAGTTG	0.408																																																	0													124	109	114					6																	56507454		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.133A>G	6.37:g.56507454T>C	ENSP00000244364:p.Ile45Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_EF_hand_dom	p.I45V	ENST00000244364.6	37	c.133	CCDS47443.1	6	.	.	.	.	.	.	.	.	.	.	T	13.34	2.207726	0.39003	.	.	ENSG00000151914	ENST00000244364;ENST00000446842;ENST00000439203;ENST00000370765;ENST00000518935	T;T;T;T;T	0.72725	1.21;1.04;-0.2;-0.68;-0.13	5.86	5.86	0.93980	.	.	.	.	.	T	0.63616	0.2526	N	0.22421	0.69	0.18873	N	0.999981	B;P;D;B	0.64830	0.218;0.863;0.994;0.325	B;P;P;B	0.61201	0.05;0.53;0.885;0.145	T	0.72743	-0.4201	8	0.87932	D	0	.	11.6181	0.51102	0.1327:0.0:0.0:0.8673	.	45;45;45;45	Q6P0N6;Q03001-3;Q03001-9;Q03001-8	.;.;.;.	V	45	ENSP00000244364:I45V;ENSP00000393645:I45V;ENSP00000404924:I45V;ENSP00000359801:I45V;ENSP00000431003:I45V	ENSP00000244364:I45V	I	-	1	0	DST	56615413	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.723000	0.54955	2.367000	0.80283	0.528000	0.53228	ATT	DST	-	NULL	ENSG00000151914		0.408	DST-005	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041022.4	-	0	33	0	T	NM_001723		56507454	-1	tier1	-	no_errors	ENST00000446842	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	56507454	T	C	56507454	3	2	13	1	0	0	0	0	1	0	0	0	4797	1464	51	4	20358	4	DST	6	56507454	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	69607	56507454	114607613	249	3795											
ZNF292	23036	genome.wustl.edu	37	chr6	87968021	87968021	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggacgtcaaactccaaaacTtcctccattgaggaatgtag	14	9	8	10	1	1	1	1	1	0	0	4	3	4	3	3	2	2	1	3	2	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:87968021T>G	ENST00000369577.3	+	8	4717	c.4674T>G	c.(4672-4674)acT>acG	p.T1558T	ZNF292_ENST00000339907.4_Silent_p.T1553T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1558						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACTCCAAAACTTCCTCCATTG	0.438																																																	0													73	72	72					6																	87968021		1997	4173	6170	SO:0001819	synonymous_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4674T>G	6.37:g.87968021T>G			Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1558	ENST00000369577.3	37	c.4674	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.438	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0	44	0	T	NM_015021		87968021	1			no_errors	ENST00000369577	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.999	G	G	87968021	T	G	87968021	2	3	13	1	0	0	0	0	0	0	0	1	17874	1596	56	4		4	ZNF292	6	87968021	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	31460567	87968021	83147046	250	3796											
FHL5	9457	genome.wustl.edu	37	chr6	97058456	97058456	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctttggcaggtgataacTtcaggtgggataacattttg	9	14	13	5	0	2	1	1	1	1	0	2	2	2	2	0	5	2	1	0	5	2	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:97058456T>C	ENST00000326771.2	+	6	893	c.513T>C	c.(511-513)acT>acC	p.T171T	FHL5_ENST00000541107.1_Silent_p.T171T	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	171	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AGGTGATAACTTCAGGTGGGA	0.423																																																	0													243	226	232					6																	97058456		2203	4300	6503	SO:0001819	synonymous_variant	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.513T>C	6.37:g.97058456T>C			B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.T171	ENST00000326771.2	37	c.513	CCDS5035.1	6																																																																																			FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000112214		0.423	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1		0	95	0	T	NM_020482		97058456	1			no_errors	ENST00000326771	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.866	C	C	97058456	T	C	97058456	2	2	13	1	0	0	0	0	0	0	0	1	5903	1596	56	4		4	FHL5	6	97058456	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	9090435	97058456	74056611	251	3797											
POU3F2	5454	genome.wustl.edu	37	chr6	99282803	99282803	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctccagcgcctccatCgtgcacgccgagccgcccgg	5	5	10	21	6	1	0	1	0	0	0	4	1	3	0	7	1	3	1	7	1	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:99282803C>A	ENST00000328345.5	+	1	224	c.54C>A	c.(52-54)atC>atA	p.I18I		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	18					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCCTCCATCGTGCACGCCG	0.692																																																	0													14	18	17					6																	99282803		2120	4187	6307	SO:0001819	synonymous_variant	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.54C>A	6.37:g.99282803C>A			Q14960|Q86V54|Q9UJL0	Silent	SNP	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.I18	ENST00000328345.5	37	c.54	CCDS5040.1	6																																																																																			POU3F2	-	pirsf_Transcription_factor_POU	ENSG00000184486		0.692	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2	-	0	37	0	C			99282803	1	tier1	-	no_errors	ENST00000328345	ensembl	human	known	74_37	silent	68.42	6	13	SNP	1.000	A	A	99282803	C	A	99282803	2	1	13	1	0	0	0	0	0	0	0	1	12314	874	31	2		2	POU3F2	6	99282803	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2224347	99282803	71832264	252	3798											
ASCC3	10973	genome.wustl.edu	37	chr6	100988137	100988137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtgcctgtagcaggaGatgtgctttggtgtgagggc	7	11	18	5	0	0	3	0	1	0	2	0	5	0	3	1	3	3	3	1	3	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:100988137G>T	ENST00000369162.2	-	37	6021	c.5677C>A	c.(5677-5679)Ctc>Atc	p.L1893I		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1893	SEC63 2.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTAGCAGGAGATGTGCTTTG	0.453																																																	0													224	190	201					6																	100988137		2203	4300	6503	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5677C>A	6.37:g.100988137G>T	ENSP00000358159:p.Leu1893Ile		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1893I	ENST00000369162.2	37	c.5677	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.073813	0.94000	.	.	ENSG00000112249	ENST00000369162	T	0.61274	0.12	5.66	5.66	0.87406	Sec63 domain (3);	0.000000	0.64402	D	0.000001	T	0.73210	0.3558	M	0.79926	2.475	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.70073	-0.4972	10	0.33940	T	0.23	.	19.8023	0.96513	0.0:0.0:1.0:0.0	.	1893	Q8N3C0	HELC1_HUMAN	I	1893	ENSP00000358159:L1893I	ENSP00000358159:L1893I	L	-	1	0	ASCC3	101094858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.937000	0.92936	2.674000	0.91012	0.650000	0.86243	CTC	ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000112249		0.453	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	-	0	71	0	G	NM_006828		100988137	-1	tier1	-	no_errors	ENST00000369162	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	100988137	G	T	100988137	3	4	13	1	0	0	0	0	1	0	0	0	1034	942	33	3	955	3	ASCC3	6	100988137	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1705334	100988137	70126930	253	3799											
SOBP	55084	genome.wustl.edu	37	chr6	107955088	107955088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcactaaaatccccaCgccagtgcccaagtccatcc	10	8	5	18	1	2	0	1	0	1	0	5	0	5	0	6	0	1	0	6	0	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:107955088C>T	ENST00000317357.5	+	6	1699	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		AAAATCCCCACGCCAGTGCCC	0.637																																																	0													93	106	101					6																	107955088		2053	4191	6244	SO:0001583	missense	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1040C>T	6.37:g.107955088C>T	ENSP00000318900:p.Thr347Met			Missense_Mutation	SNP	NULL	p.T347M	ENST00000317357.5	37	c.1040	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842190	0.71488	.	.	ENSG00000112320	ENST00000317357	T	0.35236	1.32	5.7	5.7	0.88788	.	0.064361	0.64402	D	0.000007	T	0.48277	0.1491	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.45101	-0.9284	10	0.62326	D	0.03	-13.528	19.8218	0.96599	0.0:1.0:0.0:0.0	.	347	A7XYQ1	SOBP_HUMAN	M	347	ENSP00000318900:T347M	ENSP00000318900:T347M	T	+	2	0	SOBP	108061781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.448000	0.66612	2.678000	0.91216	0.655000	0.94253	ACG	SOBP	-	NULL	ENSG00000112320		0.637	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0	31	0	C	NM_018013		107955088	1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	107955088	C	T	107955088	3	4	13	1	0	0	0	0	1	0	0	0	14957	536	19	1	1062	1	SOBP	6	107955088	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	6966951	107955088	63159979	254	3800											
C6orf204	387119	genome.wustl.edu	37	chr6	118786715	118786715	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcattctcagtctcttcAgctgaacagttcattgctgt	7	16	8	10	0	5	1	4	1	2	0	7	1	5	1	0	1	3	3	0	1	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:118786715A>C	ENST00000368491.3	-	13	2892	c.2271T>G	c.(2269-2271)gcT>gcG	p.A757A	CEP85L_ENST00000368488.5_Silent_p.A760A	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	757						centrosome (GO:0005813)|cytoplasm (GO:0005737)											CAGTCTCTTCAGCTGAACAGT	0.343																																																	0													185	171	175					6																	118786715		1919	4125	6044	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2271T>G	6.37:g.118786715A>C			A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.A760	ENST00000368491.3	37	c.2280	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.343	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0	42	0	A	NM_001042475		118786715	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	silent	36.84	24	14	SNP	1.000	C	C	118786715	A	C	118786715	2	2	13	1	0	0	0	0	0	0	0	1	2360	175	7	4		4	C6orf204	6	118786715	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	10831627	118786715	52328352	255	3801											
MAN1A1	4121	genome.wustl.edu	37	chr6	119522431	119522431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttacgttgaccccactGtccactactgggattcagat	9	12	8	12	1	1	3	1	2	0	1	2	4	2	4	3	1	2	1	3	1	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:119522431G>T	ENST00000368468.3	-	8	1639	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	400					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGACCCCACTGTCCACTACTG	0.373																																					Ovarian(136;8 1825 12608 33541 47587)												0													162	161	161					6																	119522431		2203	4300	6503	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1198C>A	6.37:g.119522431G>T	ENSP00000357453:p.Gln400Lys		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.Q400K	ENST00000368468.3	37	c.1198	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700018	0.30142	.	.	ENSG00000111885	ENST00000368468	T	0.70986	-0.53	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	N	0.11870	0.19	0.80722	D	1	B	0.33964	0.434	B	0.40009	0.316	T	0.52245	-0.8601	10	0.02654	T	1	-21.4156	19.8167	0.96571	0.0:0.0:1.0:0.0	.	400	P33908	MA1A1_HUMAN	K	400	ENSP00000357453:Q400K	ENSP00000357453:Q400K	Q	-	1	0	MAN1A1	119564130	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.075000	0.64407	2.762000	0.94881	0.591000	0.81541	CAG	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.373	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	-	0	77	0	G	NM_005907		119522431	-1	tier1	-	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	119522431	G	T	119522431	3	4	13	1	0	0	0	0	1	0	0	0	9248	1386	48	3	787	3	MAN1A1	6	119522431	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	735716	119522431	51592636	256	3802											
TRMT11	60487	genome.wustl.edu	37	chr6	126332443	126332443	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggagaggaccagatgaaAacattagggccaatcttcgt	14	8	12	7	1	1	3	0	1	1	2	2	5	1	4	2	3	1	0	2	3	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:126332443A>C	ENST00000334379.5	+	9	926	c.805A>C	c.(805-807)Aac>Cac	p.N269H	TRMT11_ENST00000368332.3_Missense_Mutation_p.N269H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	269					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACCAGATGAAAACATTAGGGC	0.388																																																	0													100	81	88					6																	126332443		2203	4300	6503	SO:0001583	missense	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.805A>C	6.37:g.126332443A>C	ENSP00000333934:p.Asn269His		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.N269H	ENST00000334379.5	37	c.805	CCDS35496.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.4|26.4	4.732361|4.732361	0.89482|0.89482	.|.	.|.	ENSG00000066651|ENSG00000066651	ENST00000453993|ENST00000334379;ENST00000368332	.|T;T	.|0.45668	.|0.89;0.89	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Putative RNA methylase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59183|0.59183	0.2175|0.2175	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.987;0.995	T|T	0.65598|0.65598	-0.6129|-0.6129	5|10	.|0.72032	.|D	.|0.01	-16.7322|-16.7322	15.8389|15.8389	0.78824|0.78824	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|269;269	.|Q7Z4G4-2;Q7Z4G4	.|.;TRM11_HUMAN	T|H	67|269	.|ENSP00000333934:N269H;ENSP00000357316:N269H	.|ENSP00000333934:N269H	K|N	+|+	2|1	0|0	TRMT11|TRMT11	126374136|126374136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.210000|9.210000	0.95106|0.95106	2.150000|2.150000	0.67090|0.67090	0.533000|0.533000	0.62120|0.62120	AAA|AAC	TRMT11	-	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11	ENSG00000066651		0.388	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0	106	0	A	NM_021820		126332443	1	tier1	-	no_errors	ENST00000334379	ensembl	human	known	74_37	missense	14.42	89	15	SNP	1.000	C	C	126332443	A	C	126332443	3	2	13	1	0	0	0	0	1	0	0	0	16610	14	1	4	839	4	TRMT11	6	126332443	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	6810012	126332443	44782624	257	3803											
LAMA2	3908	genome.wustl.edu	37	chr6	129475657	129475657	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttaatgcagcatgcaaTtgtcatggaaaagctgaaga	14	11	9	7	0	1	2	1	1	0	1	2	3	2	3	1	1	4	4	1	1	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:129475657T>G	ENST00000421865.2	+	8	1084	c.1035T>G	c.(1033-1035)aaT>aaG	p.N345K		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	345	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGCATGCAATTGTCATGGAA	0.294																																																	0													62	64	63					6																	129475657		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1035T>G	6.37:g.129475657T>G	ENSP00000400365:p.Asn345Lys		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.N345K	ENST00000421865.2	37	c.1035	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678888	0.68042	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.61274	0.12	6.06	4.91	0.64330	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.75777	2.31	0.48975	D	0.99973	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70249	-0.4924	10	0.72032	D	0.01	.	8.1861	0.31339	0.0:0.214:0.0:0.786	.	345;345	A6NF00;P24043	.;LAMA2_HUMAN	K	345	ENSP00000400365:N345K	ENSP00000346769:N345K	N	+	3	2	LAMA2	129517350	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.649000	0.37281	1.119000	0.41883	0.533000	0.62120	AAT	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000196569		0.294	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	56	0	T			129475657	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	G	G	129475657	T	G	129475657	3	3	13	1	0	0	0	0	1	0	0	0	8634	1490	52	4	1065	4	LAMA2	6	129475657	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3143214	129475657	41639410	258	3804											
TMEM200A	114801	genome.wustl.edu	37	chr6	130761774	130761774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttcttattttaggagtGctcatctccattataggaat	9	20	6	6	0	3	0	1	0	2	0	4	2	3	2	1	2	1	1	1	2	5	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:130761774G>T	ENST00000296978.3	+	3	1078	c.207G>T	c.(205-207)gtG>gtT	p.V69V	TMEM200A_ENST00000545622.1_Silent_p.V69V|TMEM200A_ENST00000392429.1_Silent_p.V69V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	69						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTTTAGGAGTGCTCATCTCCA	0.443																																																	0													100	104	103					6																	130761774		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.207G>T	6.37:g.130761774G>T			Q96PX5	Silent	SNP	pfam_DUF2371_TMEM200	p.V69	ENST00000296978.3	37	c.207	CCDS5140.1	6																																																																																			TMEM200A	-	pfam_DUF2371_TMEM200	ENSG00000164484		0.443	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	-	0	71	0	G	NM_052913		130761774	1	tier1	-	no_errors	ENST00000296978	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.880	T	T	130761774	G	T	130761774	2	4	13	1	0	0	0	0	0	0	0	1	16170	1306	46	3		3	TMEM200A	6	130761774	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1286117	130761774	40353293	259	3805											
MOXD1	26002	genome.wustl.edu	37	chr6	132618392	132618392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaagaagacgtgccaCacaccaaaggttctgcttta	15	7	10	9	1	1	3	0	0	1	3	1	4	1	4	2	2	2	2	2	2	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:132618392C>A	ENST00000367963.3	-	12	1860	c.1742G>T	c.(1741-1743)tGt>tTt	p.C581F	MOXD1_ENST00000336749.3_Missense_Mutation_p.C513F	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	581						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGACGTGCCACACACCAAAGG	0.448																																																	0													179	158	165					6																	132618392		2203	4300	6503	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1742G>T	6.37:g.132618392C>A	ENSP00000356940:p.Cys581Phe		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.C581F	ENST00000367963.3	37	c.1742	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703945	0.48412	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.54279	0.59;0.58	5.7	5.7	0.88788	.	0.065807	0.64402	D	0.000009	T	0.65995	0.2745	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.981;0.998	P;D	0.64877	0.687;0.93	T	0.68127	-0.5491	10	0.66056	D	0.02	-12.5007	18.0132	0.89230	0.0:1.0:0.0:0.0	.	581;513	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	F	581;513	ENSP00000356940:C581F;ENSP00000336998:C513F	ENSP00000336998:C513F	C	-	2	0	MOXD1	132660085	0.996000	0.38824	0.650000	0.29550	0.006000	0.05464	4.727000	0.61993	2.686000	0.91538	0.591000	0.81541	TGT	MOXD1	-	NULL	ENSG00000079931		0.448	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	-	0	103	0	C	NM_015529		132618392	-1	tier1	-	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.923	A	A	132618392	C	A	132618392	3	1	13	1	0	0	0	0	1	0	0	0	9758	478	17	3	103	3	MOXD1	6	132618392	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1856618	132618392	38496675	260	3806											
C6orf192	116843	genome.wustl.edu	37	chr6	133097560	133097560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcccacatatccagctggTaaattgaactgtaaaagaaa	17	9	7	8	0	0	2	0	1	0	1	2	2	2	2	2	1	2	3	2	1	7	4	rs60263064		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:133097560T>G	ENST00000275227.4	-	8	900	c.804A>C	c.(802-804)ttA>ttC	p.L268F	SLC18B1_ENST00000538764.1_Missense_Mutation_p.L142F|SLC18B1_ENST00000367918.1_Missense_Mutation_p.T81P	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											ATCCAGCTGGTAAATTGAACT	0.363																																																	0													69	68	69					6																	133097560		2203	4300	6503	SO:0001583	missense	0			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.804A>C	6.37:g.133097560T>G	ENSP00000275227:p.Leu268Phe		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L268F	ENST00000275227.4	37	c.804	CCDS5163.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.65|13.65	2.299049|2.299049	0.40694|0.40694	.|.	.|.	ENSG00000146409|ENSG00000146409	ENST00000275227;ENST00000538764|ENST00000367919;ENST00000367918	T;T|T	0.59638|0.58797	0.25;0.25|0.31	5.39|5.39	-0.867|-0.867	0.10655|0.10655	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52677|0.52677	0.1749|0.1749	M|M	0.72479|0.72479	2.2|2.2	0.58432|0.58432	D|D	0.999994|0.999994	D;D|.	0.89917|.	1.0;0.985|.	D;D|.	0.91635|.	0.999;0.927|.	T|T	0.60058|0.60058	-0.7337|-0.7337	10|7	0.15952|0.59425	T|D	0.53|0.04	-16.0476|-16.0476	10.2149|10.2149	0.43162|0.43162	0.0:0.5678:0.0:0.4322|0.0:0.5678:0.0:0.4322	rs60263064|rs60263064	142;268|.	B7Z1S5;Q6NT16|.	.;CF192_HUMAN|.	F|P	268;142|81	ENSP00000275227:L268F;ENSP00000444098:L142F|ENSP00000356895:T81P	ENSP00000275227:L268F|ENSP00000356895:T81P	L|T	-|-	3|1	2|0	C6orf192|C6orf192	133139253|133139253	0.740000|0.740000	0.28207|0.28207	0.997000|0.997000	0.53966|0.53966	0.990000|0.990000	0.78478|0.78478	-0.324000|-0.324000	0.07986|0.07986	-0.092000|-0.092000	0.12417|0.12417	0.459000|0.459000	0.35465|0.35465	TTA|ACC	SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146409		0.363	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	-	0	55	0	T	NM_052831		133097560	-1	tier1	rs60263064	no_errors	ENST00000275227	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.972	G	G	133097560	T	G	133097560	3	3	13	1	0	0	0	0	1	0	0	0	2356	1635	57	4	594	4	C6orf192	6	133097560	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	479168	133097560	38017507	261	3807											
BCLAF1	9774	genome.wustl.edu	37	chr6	136599656	136599656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcttctggatctttgagaAgaaacggatcttctttttgg	8	16	10	7	1	4	2	0	1	4	2	4	5	4	4	0	3	2	1	0	3	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:136599656A>G	ENST00000531224.1	-	4	615	c.363T>C	c.(361-363)tcT>tcC	p.S121S	BCLAF1_ENST00000530767.1_Silent_p.S121S|BCLAF1_ENST00000527536.1_Silent_p.S121S|BCLAF1_ENST00000527759.1_Silent_p.S119S|BCLAF1_ENST00000392348.2_Silent_p.S119S|BCLAF1_ENST00000353331.4_Silent_p.S119S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	121					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCTTTGAGAAGAAACGGATC	0.463																																					Colon(142;1534 1789 5427 7063 28491)												0													182	191	188					6																	136599656		2203	4300	6503	SO:0001819	synonymous_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.363T>C	6.37:g.136599656A>G			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S121	ENST00000531224.1	37	c.363	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.463	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	-	0	110	0	A	NM_014739		136599656	-1	tier1	-	no_errors	ENST00000531224	ensembl	human	known	74_37	silent	20.00	76	19	SNP	1.000	G	G	136599656	A	G	136599656	2	3	13	1	0	0	0	0	0	0	0	1	1384	59	3	4		4	BCLAF1	6	136599656	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3502096	136599656	34515411	262	3808											
VTA1	51534	genome.wustl.edu	37	chr6	142525124	142525124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttttctgatttgcaggtGtagcaagtaatactatccaa	11	15	8	7	0	1	1	0	1	1	0	2	1	2	1	1	1	4	5	1	1	6	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:142525124G>T	ENST00000367630.4	+	7	758	c.700G>T	c.(700-702)Gta>Tta	p.V234L	VTA1_ENST00000367621.1_Missense_Mutation_p.V176L|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	234	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTGCAGGTGTAGCAAGTAA	0.378																																																	0													137	121	126					6																	142525124		2203	4300	6503	SO:0001583	missense	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.700G>T	6.37:g.142525124G>T	ENSP00000356602:p.Val234Leu		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	NULL	p.V234L	ENST00000367630.4	37	c.700	CCDS5197.1	6	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740271	0.49045	.	.	ENSG00000009844	ENST00000367630;ENST00000367621	T;T	0.45276	0.9;0.9	5.79	5.79	0.91817	.	0.124363	0.56097	D	0.000036	T	0.28333	0.0700	L	0.54323	1.7	0.80722	D	1	B	0.28350	0.208	B	0.30251	0.113	T	0.05194	-1.0900	10	0.25106	T	0.35	-24.0622	17.5412	0.87848	0.0:0.0:1.0:0.0	.	234	Q9NP79	VTA1_HUMAN	L	234;176	ENSP00000356602:V234L;ENSP00000356593:V176L	ENSP00000356593:V176L	V	+	1	0	VTA1	142566817	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.042000	0.57347	2.722000	0.93159	0.655000	0.94253	GTA	VTA1	-	NULL	ENSG00000009844		0.378	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	-	0	111	0	G	NM_016485		142525124	1	tier1	-	no_errors	ENST00000367630	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	T	T	142525124	G	T	142525124	3	4	13	1	0	0	0	0	1	0	0	0	17282	1377	48	3	726	3	VTA1	6	142525124	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5925468	142525124	28589943	263	3809											
SYNJ2	8871	genome.wustl.edu	37	chr6	158510932	158510932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagatcaaaaccaccaatgCccaggaggcagaagcagcaa	17	2	10	12	0	1	2	1	0	0	2	1	3	1	3	3	2	4	4	3	2	5	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:158510932C>T	ENST00000355585.4	+	25	3593	c.3518C>T	c.(3517-3519)gCc>gTc	p.A1173V	SYNJ2_ENST00000367112.1_Missense_Mutation_p.A258V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A1128V|SYNJ2_ENST00000367121.3_Missense_Mutation_p.A1173V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1173					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCACCAATGCCCAGGAGGCA	0.493																																																	0													74	66	68					6																	158510932		2203	4300	6503	SO:0001583	missense	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3518C>T	6.37:g.158510932C>T	ENSP00000347792:p.Ala1173Val		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.A1173V	ENST00000355585.4	37	c.3518	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786429	0.70337	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	D;D;D;T	0.94758	-3.51;-3.41;-3.23;0.63	5.38	5.38	0.77491	.	0.102583	0.43416	D	0.000579	D	0.89825	0.6827	L	0.32530	0.975	0.80722	D	1	P;P;P	0.51057	0.941;0.757;0.743	P;B;B	0.48425	0.577;0.293;0.392	T	0.80946	-0.1155	10	0.40728	T	0.16	.	19.1543	0.93504	0.0:1.0:0.0:0.0	.	568;1173;1173	B4DLC4;O15056;O15056-3	.;SYNJ2_HUMAN;.	V	1128;1173;1173;258	ENSP00000356089:A1128V;ENSP00000356088:A1173V;ENSP00000347792:A1173V;ENSP00000356079:A258V	ENSP00000347792:A1173V	A	+	2	0	SYNJ2	158430920	0.970000	0.33590	0.425000	0.26659	0.742000	0.42306	5.022000	0.64078	-1.981000	0.00989	-1.102000	0.02115	GCC	SYNJ2	-	NULL	ENSG00000078269		0.493	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	-	0	38	0	C			158510932	1	tier1	-	no_errors	ENST00000355585	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.823	T	T	158510932	C	T	158510932	3	4	13	1	0	0	0	0	1	0	0	0	15500	739	26	3	3616	3	SYNJ2	6	158510932	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	15985808	158510932	12604135	264	3810											
TULP4	56995	genome.wustl.edu	37	chr6	158923470	158923470	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggtagctctgccaccttGaggctcacggccactgagaa	8	7	12	14	2	2	2	1	2	1	1	2	3	2	2	4	3	2	3	4	3	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:158923470G>A	ENST00000367097.3	+	13	4132	c.2775G>A	c.(2773-2775)ttG>ttA	p.L925L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	925					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTGCCACCTTGAGGCTCACGG	0.677																																																	0													59	64	62					6																	158923470		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2775G>A	6.37:g.158923470G>A			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L925	ENST00000367097.3	37	c.2775	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.677	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0	104	0	G	NM_020245		158923470	1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	41.67	35	25	SNP	1.000	A	A	158923470	G	A	158923470	2	1	13	1	0	0	0	0	0	0	0	1	16825	1281	45	3		3	TULP4	6	158923470	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	412538	158923470	12191597	265	3811											
FNDC1	84624	genome.wustl.edu	37	chr6	159660639	159660639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggccaatgcccaagataAgccaattttgagtcttggag	11	11	10	9	0	2	2	0	1	2	1	2	3	2	3	3	2	2	0	3	2	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:159660639A>C	ENST00000297267.9	+	14	4471	c.4271A>C	c.(4270-4272)aAg>aCg	p.K1424T	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1361T|FNDC1-IT1_ENST00000419703.1_RNA	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1424					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCAAGATAAGCCAATTTTG	0.562																																																	0													33	47	43					6																	159660639		1940	4121	6061	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4271A>C	6.37:g.159660639A>C	ENSP00000297267:p.Lys1424Thr		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.K1424T	ENST00000297267.9	37	c.4271	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.90|14.90	2.674351|2.674351	0.47781|0.47781	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.16897|.	2.31;3.19|.	5.11|5.11	3.79|3.79	0.43588|0.43588	.|.	0.123114|.	0.53938|.	D|.	0.000048|.	T|.	0.52025|.	0.1709|.	M|M	0.61703|0.61703	1.905|1.905	0.44373|0.44373	D|D	0.997276|0.997276	D;D|.	0.76494|.	0.999;0.998|.	D;P|.	0.74023|.	0.982;0.863|.	T|.	0.53365|.	-0.8449|.	10|.	0.49607|.	T|.	0.09|.	-25.6418|-25.6418	9.7834|9.7834	0.40662|0.40662	0.8827:0.0:0.1173:0.0|0.8827:0.0:0.1173:0.0	.|.	1361;1424|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	T|Y	1424;1361|1319	ENSP00000297267:K1424T;ENSP00000342460:K1361T|.	ENSP00000297267:K1424T|.	K|X	+|+	2|3	0|2	FNDC1|FNDC1	159580629|159580629	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.977000|0.977000	0.68977|0.68977	2.556000|2.556000	0.45862|0.45862	2.041000|2.041000	0.60428|0.60428	0.533000|0.533000	0.62120|0.62120	AAG|TAA	FNDC1	-	NULL	ENSG00000164694		0.562	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0	131	0	A	NM_032532		159660639	1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	8.47	108	10	SNP	0.987	C	C	159660639	A	C	159660639	3	2	13	1	0	0	0	0	1	0	0	0	5990	72	3	4	4325	4	FNDC1	6	159660639	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	737169	159660639	11454428	266	3812											
MAP3K4	4216	genome.wustl.edu	37	chr6	161470381	161470381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtaaaacggataatggaGctgctagagtacatagaagc	16	7	12	6	1	0	2	0	0	0	2	0	4	0	4	0	3	5	4	0	3	7	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:161470381G>T	ENST00000392142.4	+	3	1225	c.1077G>T	c.(1075-1077)gaG>gaT	p.E359D	MAP3K4_ENST00000348824.7_Missense_Mutation_p.E359D|MAP3K4_ENST00000366920.2_Missense_Mutation_p.E359D|MAP3K4_ENST00000366919.2_Missense_Mutation_p.E359D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	359					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGATAATGGAGCTGCTAGAGT	0.458																																																	0													88	89	89					6																	161470381		2203	4300	6503	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1077G>T	6.37:g.161470381G>T	ENSP00000375986:p.Glu359Asp		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E359D	ENST00000392142.4	37	c.1077	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501174	0.26861	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.96	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.33485	1.01	0.38245	D	0.941449	B;B	0.19200	0.027;0.034	B;B	0.17433	0.018;0.012	T	0.09773	-1.0659	10	0.18710	T	0.47	-38.1646	8.6249	0.33883	0.1353:0.1257:0.739:0.0	.	359;359	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	D	359	ENSP00000355886:E359D;ENSP00000375986:E359D;ENSP00000355887:E359D;ENSP00000297332:E359D	ENSP00000297332:E359D	E	+	3	2	MAP3K4	161390371	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.504000	0.53347	1.541000	0.49316	-0.142000	0.14014	GAG	MAP3K4	-	NULL	ENSG00000085511		0.458	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0	46	0	G			161470381	1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	161470381	G	T	161470381	3	4	13	1	0	0	0	0	1	0	0	0	9290	962	34	3	1087	3	MAP3K4	6	161470381	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1809742	161470381	9644686	267	3813											
C6orf70	55780	genome.wustl.edu	37	chr6	170176094	170176094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattacaaaaatgacggatGagctgtatcaccatatgcct	14	11	8	8	1	1	3	1	3	0	0	1	4	1	4	2	1	3	2	2	1	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr6:170176094G>A	ENST00000366773.3	+	15	1486	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ERMARD_ENST00000392095.4_Missense_Mutation_p.E359K|ERMARD_ENST00000418781.3_Missense_Mutation_p.E485K|ERMARD_ENST00000366772.2_Missense_Mutation_p.E485K|ERMARD_ENST00000588451.1_Missense_Mutation_p.E349K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	485					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AATGACGGATGAGCTGTATCA	0.368																																																	0													140	119	126					6																	170176094		2203	4300	6503	SO:0001583	missense	0			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1453G>A	6.37:g.170176094G>A	ENSP00000355735:p.Glu485Lys		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.E485K	ENST00000366773.3	37	c.1453	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	.	14.27	2.485968	0.44147	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.46819	0.86;0.86	5.27	4.4	0.53042	.	0.261486	0.33144	N	0.005222	T	0.48642	0.1511	M	0.77616	2.38	0.18873	N	0.999987	D;P;D	0.56521	0.965;0.906;0.976	P;P;P	0.55871	0.786;0.602;0.761	T	0.47018	-0.9149	10	0.59425	D	0.04	.	11.1478	0.48440	0.0867:0.0:0.9133:0.0	.	485;485;485	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	485;485;485;359;133	ENSP00000355735:E485K;ENSP00000375945:E359K	ENSP00000355733:E133K	E	+	1	0	C6orf70	169918019	0.958000	0.32768	0.068000	0.19968	0.002000	0.02628	2.058000	0.41374	1.361000	0.45981	0.558000	0.71614	GAG	ERMARD	-	NULL	ENSG00000130023		0.368	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMARD	HGNC	protein_coding	OTTHUMT00000043238.2	-	0	30	0	G	NM_018341		170176094	1	tier1	-	no_errors	ENST00000366773	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.280	A	A	170176094	G	A	170176094	3	1	13	1	0	0	0	0	1	0	0	0	2377	1291	45	3	1511	3	C6orf70	6	170176094	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8705713	170176094	938973	268	3814											
EIF3B	8662	genome.wustl.edu	37	chr7	2418336	2418336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttcagcaaattaaaaagGatctgaagaaatactctaag	18	11	7	5	0	3	2	1	1	2	1	3	3	3	3	0	1	2	2	0	1	8	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:2418336G>T	ENST00000360876.4	+	16	2223	c.2167G>T	c.(2167-2169)Gat>Tat	p.D723Y	EIF3B_ENST00000397011.2_Missense_Mutation_p.D723Y	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AATTAAAAAGGATCTGAAGAA	0.408																																																	0													102	97	99					7																	2418336		2203	4300	6503	SO:0001583	missense	0			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2167G>T	7.37:g.2418336G>T	ENSP00000354125:p.Asp723Tyr			Missense_Mutation	SNP	pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom	p.D723Y	ENST00000360876.4	37	c.2167	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157919	0.78114	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.24151	1.87;1.87	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.72894	2.215	0.80722	D	1	D	0.61697	0.99	P	0.57679	0.825	T	0.49173	-0.8967	10	0.87932	D	0	-36.4579	19.6435	0.95767	0.0:0.0:1.0:0.0	.	723	P55884	EIF3B_HUMAN	Y	723;723;723;647	ENSP00000354125:D723Y;ENSP00000380206:D723Y	ENSP00000316638:D723Y	D	+	1	0	EIF3B	2384862	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.680000	0.98651	2.638000	0.89438	0.655000	0.94253	GAT	EIF3B	-	pirsf_EIF3B	ENSG00000106263		0.408	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1		0	69	0	G			2418336	1			no_errors	ENST00000360876	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	2418336	G	T	2418336	3	4	13	1	0	0	0	0	1	0	0	0	5027	1174	41	3	2229	3	EIF3B	7	2418336	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		2418336	156720327	269	3815											
DGKB	1607	genome.wustl.edu	37	chr7	14797303	14797303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggattatactttgcaaGcacaccattaccatggaatt	13	13	6	9	0	1	0	1	0	0	0	1	2	1	2	2	2	4	2	2	2	5	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:14797303G>A	ENST00000403951.2	-	3	543	c.124C>T	c.(124-126)Ctt>Ttt	p.L42F	DGKB_ENST00000444700.2_Missense_Mutation_p.L42F|DGKB_ENST00000406247.3_Missense_Mutation_p.L42F|DGKB_ENST00000402815.1_Missense_Mutation_p.L42F|DGKB_ENST00000258767.5_Missense_Mutation_p.L42F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.L42F|DGKB_ENST00000407950.1_Missense_Mutation_p.L42F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	42					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TACTTTGCAAGCACACCATTA	0.299																																																	0													83	82	83					7																	14797303		1814	4064	5878	SO:0001583	missense	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.124C>T	7.37:g.14797303G>A	ENSP00000385780:p.Leu42Phe		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L42F	ENST00000403951.2	37	c.124	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743832	0.49151	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000002	T	0.59972	0.2233	L	0.54323	1.7	0.39669	D	0.970732	D;B;B;D	0.71674	0.996;0.036;0.036;0.998	D;B;B;P	0.65323	0.934;0.063;0.063;0.889	T	0.60546	-0.7242	10	0.45353	T	0.12	.	11.8567	0.52441	0.0811:0.0:0.9189:0.0	.	42;42;42;42	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	F	42	ENSP00000385780:L42F;ENSP00000382260:L42F;ENSP00000258767:L42F;ENSP00000384909:L42F;ENSP00000385031:L42F;ENSP00000388451:L42F;ENSP00000386066:L42F;ENSP00000405569:L42F	ENSP00000258767:L42F	L	-	1	0	DGKB	14763828	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.287000	0.59001	2.650000	0.89964	0.650000	0.86243	CTT	DGKB	-	NULL	ENSG00000136267		0.299	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0	150	0	G	NM_004080		14797303	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	missense	6.49	144	10	SNP	1.000	A	A	14797303	G	A	14797303	3	1	13	1	0	0	0	0	1	0	0	0	4480	971	34	3	2401	3	DGKB	7	14797303	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	12378967	14797303	144341360	270	3816											
DPY19L1	23333	genome.wustl.edu	37	chr7	34994389	34994389	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaaaacatccttgaataAcctaaacaaaagaaaacaaa	25	5	2	9	0	0	2	0	1	0	1	1	2	1	2	3	0	4	0	3	0	11	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:34994389A>C	ENST00000310974.4	-	13	1166	c.1022T>G	c.(1021-1023)gTt>gGt	p.V341G	DPY19L1_ENST00000462134.2_5'Flank	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	341						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCCTTGAATAACCTAAACAAA	0.274																																																	0													23	19	21					7																	34994389		1791	4033	5824	SO:0001630	splice_region_variant	0			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1021-1T>G	7.37:g.34994389A>C			O94954|Q4G151	Missense_Mutation	SNP	pfam_Dpy-19	p.V341G	ENST00000310974.4	37	c.1022	CCDS43567.1	7	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044463	0.36085	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.58940	0.3;0.3	5.17	5.17	0.71159	.	0.344108	0.29660	N	0.011535	T	0.60405	0.2266	L	0.50333	1.59	0.80722	D	1	B	0.34147	0.438	P	0.45856	0.495	T	0.60561	-0.7239	10	0.41790	T	0.15	-13.8746	11.3288	0.49465	1.0:0.0:0.0:0.0	.	341	Q2PZI1	D19L1_HUMAN	G	341;111	ENSP00000308695:V341G;ENSP00000400510:V111G	ENSP00000308695:V341G	V	-	2	0	DPY19L1	34960914	1.000000	0.71417	0.999000	0.59377	0.523000	0.34469	3.277000	0.51654	2.170000	0.68504	0.482000	0.46254	GTT	DPY19L1	-	pfam_Dpy-19	ENSG00000173852		0.274	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	-	0	102	0	A		Missense_Mutation	34994389	-1	tier1	-	no_errors	ENST00000310974	ensembl	human	known	74_37	missense	8.20	112	10	SNP	1.000	C	C	34994389	A	C	34994389	5	2	13	1	0	0	0	0	0	0	1	0	4754	57	2	4	1045	4	DPY19L1	7	34994389	Splice_Site	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	20197086	34994389	124144274	271	3817											
KIAA0895	23366	genome.wustl.edu	37	chr7	36373542	36373542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggggtccttgacaaacCtgccaatatctttaaagagt	12	13	8	8	0	1	2	0	1	1	1	2	2	2	2	3	2	2	0	3	2	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:36373542C>A	ENST00000297063.6	-	5	1279	c.1229G>T	c.(1228-1230)aGg>aTg	p.R410M	KIAA0895_ENST00000317020.6_Missense_Mutation_p.R359M|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R407M|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R307M|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R397M|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R165M	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	410										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTGACAAACCTGCCAATATC	0.448																																																	0													98	97	97					7																	36373542		1860	4082	5942	SO:0001583	missense	0			BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1229G>T	7.37:g.36373542C>A	ENSP00000297063:p.Arg410Met		B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	pfam_DUF1704	p.R410M	ENST00000297063.6	37	c.1229	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694713	0.68386	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212	.	.	.	5.02	1.24	0.21308	.	0.276886	0.41396	D	0.000882	T	0.62171	0.2406	L	0.54323	1.7	0.80722	D	1	P;P;P;P;P	0.52692	0.78;0.817;0.93;0.955;0.696	P;P;P;P;P	0.56823	0.724;0.779;0.807;0.724;0.487	T	0.60831	-0.7185	9	0.87932	D	0	-8.5987	8.7885	0.34837	0.0:0.2268:0.0:0.7732	.	407;307;410;397;359	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	M	410;397;359;407;307;165	.	ENSP00000297063:R410M	R	-	2	0	KIAA0895	36340067	0.005000	0.15991	0.760000	0.31359	0.962000	0.63368	0.187000	0.16998	0.027000	0.15297	-0.302000	0.09304	AGG	KIAA0895	-	pfam_DUF1704	ENSG00000164542		0.448	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	-	0	126	0	C	NM_015314		36373542	-1	tier1	-	no_errors	ENST00000297063	ensembl	human	known	74_37	missense	11.03	129	16	SNP	0.975	A	A	36373542	C	A	36373542	3	1	13	1	0	0	0	0	1	0	0	0	8224	681	24	3	345	3	KIAA0895	7	36373542	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1379153	36373542	122765121	272	3818											
ANLN	54443	genome.wustl.edu	37	chr7	36455377	36455377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgcaggaaactcactGtcagagcactcccctcaaaa	12	10	6	13	0	3	1	3	0	0	1	4	2	4	2	2	1	3	2	2	1	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:36455377G>A	ENST00000265748.2	+	8	1627	c.1406G>A	c.(1405-1407)tGt>tAt	p.C469Y	ANLN_ENST00000495714.1_Intron|ANLN_ENST00000396068.2_Missense_Mutation_p.C469Y	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	469	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GAAACTCACTGTCAGAGCACT	0.318																																																	0													107	114	112					7																	36455377		2203	4300	6503	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1406G>A	7.37:g.36455377G>A	ENSP00000265748:p.Cys469Tyr		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.C469Y	ENST00000265748.2	37	c.1406	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549437	0.13374	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.12039	2.74;2.72	4.52	-0.772	0.10998	.	0.385642	0.29009	N	0.013424	T	0.13157	0.0319	M	0.71581	2.175	0.22827	N	0.998686	P;P;P;P	0.43633	0.802;0.716;0.813;0.716	B;B;B;B	0.39299	0.26;0.155;0.296;0.155	T	0.12041	-1.0563	10	0.56958	D	0.05	-0.0011	5.9068	0.19006	0.1918:0.4847:0.3234:0.0	.	346;469;469;469	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	Y	469	ENSP00000265748:C469Y;ENSP00000379380:C469Y	ENSP00000265748:C469Y	C	+	2	0	ANLN	36421902	0.801000	0.28930	0.119000	0.21687	0.217000	0.24651	0.471000	0.22100	-0.048000	0.13401	0.591000	0.81541	TGT	ANLN	-	NULL	ENSG00000011426		0.318	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	-	0	103	0	G	NM_018685		36455377	1	tier1	-	no_errors	ENST00000265748	ensembl	human	known	74_37	missense	25.88	62	22	SNP	0.068	A	A	36455377	G	A	36455377	3	1	13	1	0	0	0	0	1	0	0	0	694	1377	48	3	1436	3	ANLN	7	36455377	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	81835	36455377	122683286	273	3819											
TXNDC3	51314	genome.wustl.edu	37	chr7	37890011	37890011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcaaagcctgtgggatgAgatgttgcagaacaaaggct	14	9	12	6	0	1	2	1	1	0	2	1	4	1	3	1	2	3	3	1	2	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:37890011A>T	ENST00000199447.4	+	4	437	c.65A>T	c.(64-66)gAg>gTg	p.E22V	NME8_ENST00000440017.1_Missense_Mutation_p.E22V|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	22	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CTGTGGGATGAGATGTTGCAG	0.488																																																	0													171	171	171					7																	37890011		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.65A>T	7.37:g.37890011A>T	ENSP00000199447:p.Glu22Val		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.E22V	ENST00000199447.4	37	c.65	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	18.40	3.614813	0.66672	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.03801	3.8;3.8	5.12	5.12	0.69794	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.53938	D	0.000050	T	0.22205	0.0535	M	0.89287	3.02	0.42996	D	0.994506	D	0.62365	0.991	P	0.61722	0.893	T	0.02202	-1.1196	10	0.54805	T	0.06	-16.0855	12.4753	0.55809	1.0:0.0:0.0:0.0	.	22	Q8N427	TXND3_HUMAN	V	22	ENSP00000199447:E22V;ENSP00000397063:E22V	ENSP00000199447:E22V	E	+	2	0	TXNDC3	37856536	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	4.087000	0.57671	1.941000	0.56285	0.459000	0.35465	GAG	NME8	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000086288		0.488	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	80	0	A	NM_016616		37890011	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	32.95	58	29	SNP	1.000	T	T	37890011	A	T	37890011	3	4	13	1	0	0	0	0	1	0	0	0	16847	304	11	5	71	5	TXNDC3	7	37890011	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1434634	37890011	121248652	274	3820											
AEBP1	165	genome.wustl.edu	37	chr7	44147429	44147429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtacattcggcgccagaAgcaacccaggccacccccaa	12	4	9	16	2	0	2	0	1	0	1	1	2	0	2	5	2	3	2	5	2	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44147429A>G	ENST00000223357.3	+	5	1066	c.761A>G	c.(760-762)aAg>aGg	p.K254R	AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	254	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CGGCGCCAGAAGCAACCCAGG	0.692																																																	0													19	24	22					7																	44147429		2198	4293	6491	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.761A>G	7.37:g.44147429A>G	ENSP00000223357:p.Lys254Arg		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.K254R	ENST00000223357.3	37	c.761	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282036	0.59867	.	.	ENSG00000106624	ENST00000223357	T	0.49139	0.79	4.89	3.74	0.42951	.	8.367670	0.00166	N	0.000000	T	0.41811	0.1175	L	0.29908	0.895	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22977	-1.0201	10	0.87932	D	0	-34.7116	8.1331	0.31039	0.9051:0.0:0.0949:0.0	.	254	Q8IUX7	AEBP1_HUMAN	R	254	ENSP00000223357:K254R	ENSP00000223357:K254R	K	+	2	0	AEBP1	44113954	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.070000	0.41491	0.735000	0.32537	0.402000	0.26972	AAG	AEBP1	-	NULL	ENSG00000106624		0.692	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0	109	0	A	NM_001129		44147429	1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	7.53	86	7	SNP	1.000	G	G	44147429	A	G	44147429	3	3	13	1	0	0	0	0	1	0	0	0	349	72	3	4	779	4	AEBP1	7	44147429	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	6257418	44147429	114991234	275	3821											
POLD2	5425	genome.wustl.edu	37	chr7	44156030	44156030	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccagctcgctcacgCtcagctgcaggaggatctca	8	6	10	17	2	3	0	3	0	1	0	5	2	3	2	2	2	4	5	2	2	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44156030C>T	ENST00000406581.2	-	8	1509	c.860G>A	c.(859-861)aGc>aAc	p.S287N	POLD2_ENST00000223361.3_Splice_Site_p.S287N|POLD2_ENST00000452185.1_Splice_Site_p.S287N	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	287					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTCGCTCACGCTCAGCTGCAG	0.602																																																	0													49	40	43					7																	44156030		2201	4296	6497	SO:0001630	splice_region_variant	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.861+1G>A	7.37:g.44156030C>T			A4D2J4|B2R5S4	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.S287N	ENST00000406581.2	37	c.860	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650640	0.67472	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436400;ENST00000436844	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.84	5.84	0.93424	DNA polymerase alpha/epsilon, subunit B (1);	0.145273	0.64402	D	0.000008	T	0.43100	0.1232	L	0.55834	1.745	0.43787	D	0.996325	D;P	0.55800	0.973;0.928	P;P	0.54815	0.761;0.663	T	0.04607	-1.0939	10	0.22109	T	0.4	-13.8968	16.3181	0.82935	0.0:0.8677:0.1323:0.0	.	287;287	P49005;F8W8R3	DPOD2_HUMAN;.	N	287;287;287;27;205	ENSP00000386105:S287N;ENSP00000223361:S287N;ENSP00000395231:S287N;ENSP00000416203:S205N	ENSP00000223361:S287N	S	-	2	0	POLD2	44122555	0.303000	0.24463	0.991000	0.47740	0.610000	0.37248	2.403000	0.44530	2.778000	0.95560	0.655000	0.94253	AGC	POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu	ENSG00000106628		0.602	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	-	0	42	0	C	NM_001127218	Missense_Mutation	44156030	-1	tier1	-	no_errors	ENST00000406581	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.989	T	T	44156030	C	T	44156030	5	4	13	1	0	0	0	0	0	0	1	0	12230	811	28	3	569	3	POLD2	7	44156030	Splice_Site	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	8601	44156030	114982633	276	3822											
CAMK2B	816	genome.wustl.edu	37	chr7	44274000	44274000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcagtaccagggcggcagGaggaagcgtccctttggggc	7	6	17	11	2	1	0	1	0	0	0	2	2	2	2	2	6	2	3	2	6	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:44274000G>T	ENST00000395749.2	-	15	1196	c.1120C>A	c.(1120-1122)Cct>Act	p.P374T	CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Missense_Mutation_p.P374T|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000258682.6_Missense_Mutation_p.P349T|CAMK2B_ENST00000457475.1_Missense_Mutation_p.P350T|CAMK2B_ENST00000440254.2_Missense_Mutation_p.P374T|CAMK2B_ENST00000358707.3_Missense_Mutation_p.P350T|CAMK2B_ENST00000502837.2_Missense_Mutation_p.P245T|CAMK2B_ENST00000395747.2_Missense_Mutation_p.P350T|CAMK2B_ENST00000346990.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	374					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGCGGCAGGAGGAAGCGTC	0.617																																																	0													97	86	89					7																	44274000		2202	4294	6496	SO:0001583	missense	0			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1120C>A	7.37:g.44274000G>T	ENSP00000379098:p.Pro374Thr		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P374T	ENST00000395749.2	37	c.1120	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591875	0.28357	.	.	ENSG00000058404	ENST00000350811;ENST00000457475;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000358707;ENST00000258682;ENST00000395747	T;T;T;T;T;T;T;T	0.66815	-0.16;-0.17;-0.23;0.51;-0.16;-0.18;-0.17;-0.17	5.22	5.22	0.72569	Protein kinase-like domain (1);	.	.	.	.	T	0.56124	0.1964	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.27450	0.0;0.0;0.0;0.0;0.179;0.0	B;B;B;B;B;B	0.27170	0.001;0.002;0.001;0.001;0.077;0.001	T	0.53865	-0.8378	9	0.07482	T	0.82	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	349;350;349;350;374;374	Q13554-8;Q13554-3;A4D2K5;Q13554-5;Q13554;Q13554-2	.;.;.;.;KCC2B_HUMAN;.	T	374;350;374;245;374;350;349;350	ENSP00000326375:P374T;ENSP00000390292:P350T;ENSP00000379098:P374T;ENSP00000422416:P245T;ENSP00000397937:P374T;ENSP00000351542:P350T;ENSP00000258682:P349T;ENSP00000379096:P350T	ENSP00000258682:P349T	P	-	1	0	CAMK2B	44240525	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.288000	0.51739	2.417000	0.82017	0.462000	0.41574	CCT	CAMK2B	-	superfamily_Kinase-like_dom	ENSG00000058404		0.617	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	-	0	112	0	G	NM_172084		44274000	-1	tier1	-	no_errors	ENST00000395749	ensembl	human	known	74_37	missense	11.65	91	12	SNP	1.000	T	T	44274000	G	T	44274000	3	4	13	1	0	0	0	0	1	0	0	0	2607	1174	41	3	916	3	CAMK2B	7	44274000	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	117970	44274000	114864663	277	3823											
ZNF107	51427	genome.wustl.edu	37	chr7	64168006	64168006	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagaaaccctacaaaTgtgaagaatgtgacagagct	16	7	11	7	0	0	5	0	2	0	3	0	7	0	6	1	1	3	1	1	1	5	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:64168006T>G	ENST00000395391.1	+	4	2699	c.1324T>G	c.(1324-1326)Tgt>Ggt	p.C442G	ZNF107_ENST00000423627.1_Missense_Mutation_p.C442G|ZNF107_ENST00000344930.3_Missense_Mutation_p.C442G			Q9UII5	ZN107_HUMAN	zinc finger protein 107	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACCCTACAAATGTGAAGAATG	0.363																																																	0													29	32	31					7																	64168006		2192	4292	6484	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1324T>G	7.37:g.64168006T>G	ENSP00000378789:p.Cys442Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C442G	ENST00000395391.1	37	c.1324	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	16.66	3.183733	0.57800	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	D;D;D	0.85258	-1.96;-1.96;-1.96	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94288	0.8165	H	0.98295	4.195	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84155	0.0425	8	.	.	.	.	6.2392	0.20780	0.0:0.0:0.0:1.0	.	442	Q9UII5	ZN107_HUMAN	G	442	ENSP00000343443:C442G;ENSP00000400037:C442G;ENSP00000378789:C442G	.	C	+	1	0	ZNF107	63805441	0.999000	0.42202	0.225000	0.23894	0.971000	0.66376	3.930000	0.56522	0.530000	0.28619	0.260000	0.18958	TGT	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1		0	49	0	T	NM_016220		64168006	1			no_errors	ENST00000344930	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.022	G	G	64168006	T	G	64168006	3	3	13	1	0	0	0	0	1	0	0	0	17763	1464	51	4	1330	4	ZNF107	7	64168006	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	19894006	64168006	94970657	278	3824											
ERV3	2086	genome.wustl.edu	37	chr7	64452676	64452676	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggttgagcgggtccgAgttttctttatgatatatag	7	17	13	4	2	1	2	0	2	1	0	2	3	2	2	1	2	1	3	1	2	4	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:64452676A>C	ENST00000394323.2	-	2	1229	c.729T>G	c.(727-729)acT>acG	p.T243T	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	243						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						agcgggtccgagttttcttta	0.468																																																	0													65	68	67					7																	64452676		1939	4147	6086	SO:0001819	synonymous_variant	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.729T>G	7.37:g.64452676A>C				Silent	SNP	NULL	p.T243	ENST00000394323.2	37	c.729	CCDS47595.1	7																																																																																			ERV3-1	-	NULL	ENSG00000213462		0.468	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0	35	0	A	NM_001007253		64452676	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.633	C	C	64452676	A	C	64452676	2	2	13	1	0	0	0	0	0	0	0	1	5261	291	11	4		4	ERV3	7	64452676	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	284670	64452676	94685987	279	3825											
PCLO	27445	genome.wustl.edu	37	chr7	82545247	82545247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggactgcttgccatgctacTtctttcctccaaacctattc	7	15	5	14	0	1	0	0	0	1	0	4	1	3	1	4	1	5	2	4	1	3	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82545247T>C	ENST00000333891.9	-	7	12392	c.12055A>G	c.(12055-12057)Agt>Ggt	p.S4019G	PCLO_ENST00000437081.1_Missense_Mutation_p.S739G|PCLO_ENST00000423517.2_Missense_Mutation_p.S4019G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCATGCTACTTCTTTCCTCC	0.383																																																	0													231	217	221					7																	82545247		1930	4141	6071	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12055A>G	7.37:g.82545247T>C	ENSP00000334319:p.Ser4019Gly			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4019G	ENST00000333891.9	37	c.12055	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	3.708	-0.060060	0.07317	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18016	2.24;2.24	5.85	4.71	0.59529	.	.	.	.	.	T	0.10165	0.0249	N	0.11341	0.13	0.25616	N	0.986444	B;B;B	0.11235	0.0;0.004;0.004	B;B;B	0.13407	0.0;0.009;0.009	T	0.11155	-1.0599	9	0.87932	D	0	.	8.6064	0.33775	0.0:0.1428:0.0:0.8572	.	3950;4019;4019	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	G	4019;4019;739	ENSP00000334319:S4019G;ENSP00000388393:S4019G	ENSP00000334319:S4019G	S	-	1	0	PCLO	82383183	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	1.220000	0.32491	2.234000	0.73211	0.460000	0.39030	AGT	PCLO	-	NULL	ENSG00000186472		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	36	0	T	NM_014510		82545247	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	37.25	32	19	SNP	1.000	C	C	82545247	T	C	82545247	3	2	13	1	0	0	0	0	1	0	0	0	11622	1609	56	4	3466	4	PCLO	7	82545247	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	18092571	82545247	76593416	280	3826											
PCLO	27445	genome.wustl.edu	37	chr7	82581924	82581924	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaggagtcactattgatGatgtcacactaagatttata	15	13	7	6	0	2	3	2	2	0	1	2	4	2	4	0	1	1	0	0	1	5	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82581924G>T	ENST00000333891.9	-	5	8682	c.8345C>A	c.(8344-8346)tCa>tAa	p.S2782*	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Nonsense_Mutation_p.S2782*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTATTGATGATGTCACACT	0.428																																																	0													164	149	154					7																	82581924		1963	4152	6115	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8345C>A	7.37:g.82581924G>T	ENSP00000334319:p.Ser2782*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S2782*	ENST00000333891.9	37	c.8345	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	49	15.117970	0.99823	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.69	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.7677	0.46303	0.0741:0.1428:0.7831:0.0	.	.	.	.	X	2713;2782;2782	.	ENSP00000334319:S2782X	S	-	2	0	PCLO	82419860	0.961000	0.32948	0.149000	0.22428	0.333000	0.28666	4.161000	0.58170	2.674000	0.91012	0.655000	0.94253	TCA	PCLO	-	NULL	ENSG00000186472		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	39	0	G	NM_014510		82581924	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.004	T	T	82581924	G	T	82581924	4	4	13	1	0	0	0	0	0	1	0	0	11622	1294	45	3	7184	3	PCLO	7	82581924	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	36677	82581924	76556739	281	3827											
PCLO	27445	genome.wustl.edu	37	chr7	82585562	82585562	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcatcttcagaacctgaAgcatcttcatcagcactcat	12	12	4	13	0	8	2	6	1	2	1	8	2	8	2	1	0	3	2	1	0	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:82585562A>C	ENST00000333891.9	-	5	5044	c.4707T>G	c.(4705-4707)gcT>gcG	p.A1569A	PCLO_ENST00000423517.2_Silent_p.A1569A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAACCTGAAGCATCTTCAT	0.418																																																	0													162	152	155					7																	82585562		1922	4134	6056	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4707T>G	7.37:g.82585562A>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.A1569	ENST00000333891.9	37	c.4707	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	32	0	A	NM_014510		82585562	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	29.03	44	18	SNP	0.936	C	C	82585562	A	C	82585562	2	2	13	1	0	0	0	0	0	0	0	1	11622	59	3	4		4	PCLO	7	82585562	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3638	82585562	76553101	282	3828											
RUNDC3B	154661	genome.wustl.edu	37	chr7	87280172	87280172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgattgatcggtcttgcTttgagacaattgatgattct	8	16	9	8	1	2	5	0	5	2	1	3	6	2	5	1	1	1	1	1	1	1	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:87280172T>C	ENST00000338056.3	+	2	568	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.F53L|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.F53L	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	53										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCGGTCTTGCTTTGAGACAAT	0.343																																																	0													86	83	84					7																	87280172		2203	4300	6503	SO:0001583	missense	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.157T>C	7.37:g.87280172T>C	ENSP00000337732:p.Phe53Leu		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.F53L	ENST00000338056.3	37	c.157	CCDS5609.1	7	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795773	0.31777	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.10763	2.84;2.84;2.84	5.07	5.07	0.68467	.	0.105480	0.64402	D	0.000004	T	0.10594	0.0259	L	0.27053	0.805	0.51012	D	0.999903	P;P;P;B	0.41450	0.622;0.622;0.75;0.059	B;B;B;B	0.42030	0.112;0.112;0.373;0.046	T	0.10109	-1.0644	10	0.48119	T	0.1	-13.0355	14.0907	0.64987	0.0:0.0:0.0:1.0	.	53;53;53;53	E9PBR4;B4DFD0;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	L	53	ENSP00000337732:F53L;ENSP00000420394:F53L;ENSP00000378149:F53L	ENSP00000337732:F53L	F	+	1	0	RUNDC3B	87118108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.794000	0.69067	2.023000	0.59567	0.477000	0.44152	TTT	RUNDC3B	-	NULL	ENSG00000105784		0.343	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	-	0	28	0	T	NM_138290		87280172	1	tier1	-	no_errors	ENST00000338056	ensembl	human	known	74_37	missense	23.17	63	19	SNP	1.000	C	C	87280172	T	C	87280172	3	2	13	1	0	0	0	0	1	0	0	0	13790	1609	56	4	163	4	RUNDC3B	7	87280172	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4694610	87280172	71858491	283	3829											
ZNF804B	219578	genome.wustl.edu	37	chr7	88964359	88964359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcagcatgaccagcaaggTttccggatgtggaaaccaaa	14	7	10	10	1	1	1	1	1	0	0	2	3	2	3	3	3	3	3	3	3	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:88964359T>C	ENST00000333190.4	+	4	2672	c.2063T>C	c.(2062-2064)gTt>gCt	p.V688A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	688							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACCAGCAAGGTTTCCGGATGT	0.453										HNSCC(36;0.09)																																							0													80	78	78					7																	88964359		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2063T>C	7.37:g.88964359T>C	ENSP00000329638:p.Val688Ala		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.V688A	ENST00000333190.4	37	c.2063	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.991082	0.00439	.	.	ENSG00000182348	ENST00000333190	T	0.04502	3.61	4.95	-3.53	0.04667	.	1.458410	0.03956	N	0.289242	T	0.02230	0.0069	N	0.04203	-0.255	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45086	-0.9285	10	0.15066	T	0.55	-0.0052	5.6578	0.17652	0.0996:0.5168:0.0926:0.291	.	688	A4D1E1	Z804B_HUMAN	A	688	ENSP00000329638:V688A	ENSP00000329638:V688A	V	+	2	0	ZNF804B	88802295	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-1.469000	0.02348	-0.796000	0.04456	0.454000	0.30748	GTT	ZNF804B	-	NULL	ENSG00000182348		0.453	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	38	0	T	NM_181646		88964359	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.000	C	C	88964359	T	C	88964359	3	2	13	1	0	0	0	0	1	0	0	0	18219	1725	60	4	2077	4	ZNF804B	7	88964359	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1684187	88964359	70174304	284	3830											
AKAP9	10142	genome.wustl.edu	37	chr7	91652182	91652183	+	Missense_Mutation	DNP	TT	TT	AA																															agatcttgaaaaaactaaacTtgaagaacaagttcaagaat																								rs74746725		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:91652182_91652183TT>AA	ENST00000359028.2	+	15	4268_4269	c.4043_4044TT>AA	c.(4042-4044)cTT>cAA	p.L1348Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.L1336Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.L1348Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1348					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAACTAAACTTGAAGAACAAG	0.317			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0																																										SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	Exception_encountered	7.37:g.91652182_91652183delinsAA	ENSP00000351922:p.Leu1348Gln		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation|Silent	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.L1348H|p.L1348	ENST00000359028.2	37	c.4043|c.4044		7																																																																																			AKAP9	-	NULL	ENSG00000127914		0.317	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding			0	81|82	0	T	NM_005751		91652182|91652183	1			no_errors	ENST00000359028	ensembl	human	known	74_37	missense|silent	5.92|5.11	476|482	30|26	SNP	0.976|0.984	A	AA	91652183	TT	AA	91652182	3	1	13	1	0	0	0	0	1	0	0	0	459	1609	56	5	4061	5	AKAP9	7	91652182	Missense_Mutation	DNP	TT	TCGA-IC-A6RE-01A-11D-A33E-09	2687823	91652182	67486481	285	3831											
KRIT1	889	genome.wustl.edu	37	chr7	91842564	91842564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcactcctacatacacaGggatgactttatgattgctg	11	14	7	9	0	1	2	1	2	0	0	2	3	2	3	1	1	3	1	1	1	4	7	rs527290163		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:91842564G>A	ENST00000340022.2	-	17	2988	c.1970C>T	c.(1969-1971)cCt>cTt	p.P657L	KRIT1_ENST00000394505.2_Missense_Mutation_p.P657L|KRIT1_ENST00000412043.2_Missense_Mutation_p.P657L|KRIT1_ENST00000394507.1_Missense_Mutation_p.P657L|KRIT1_ENST00000394503.2_Missense_Mutation_p.P609L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	657	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACATACACAGGGATGACTTT	0.363													G|||	1	0.000199681	8e-04	0	5008	,	,		18694	0		0	False		,,,				2504	0																0													169	157	161					7																	91842564		2203	4300	6503	SO:0001583	missense	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1970C>T	7.37:g.91842564G>A	ENSP00000344668:p.Pro657Leu		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.P657L	ENST00000340022.2	37	c.1970	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508802	0.44660	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.71817	0.91;0.91;0.91;0.91;-0.6	6.17	5.28	0.74379	FERM domain (1);	0.131674	0.49305	D	0.000149	T	0.50599	0.1625	N	0.12182	0.205	0.53005	D	0.99996	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.14023	0.01;0.006;0.01	T	0.46762	-0.9168	10	0.41790	T	0.15	4.2976	9.2905	0.37784	0.0:0.3251:0.5452:0.1297	.	657;609;657	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	L	657;657;657;657;609	ENSP00000378015:P657L;ENSP00000344668:P657L;ENSP00000410909:P657L;ENSP00000378013:P657L;ENSP00000378011:P609L	ENSP00000344668:P657L	P	-	2	0	KRIT1	91680500	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.644000	0.61397	2.941000	0.99782	0.655000	0.94253	CCT	KRIT1	-	pfscan_FERM_domain	ENSG00000001631		0.363	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	-	0	32	0	G			91842564	-1	tier1	-	no_errors	ENST00000340022	ensembl	human	known	74_37	missense	5.29	392	22	SNP	1.000	A	A	91842564	G	A	91842564	3	1	13	1	0	0	0	0	1	0	0	0	8472	1000	35	3	252	3	KRIT1	7	91842564	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	190382	91842564	67296099	286	3832											
ACHE	43	genome.wustl.edu	37	chr7	100490202	100490202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggggcacacgacattgtGgtcgcccaccacatcgctca	9	6	10	16	4	1	0	1	0	0	0	3	1	1	0	2	3	0	2	2	3	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:100490202G>A	ENST00000412389.1	-	2	1461	c.1306C>T	c.(1306-1308)Cac>Tac	p.H436Y	ACHE_ENST00000428317.1_Missense_Mutation_p.H436Y|UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000411582.1_Missense_Mutation_p.H436Y|ACHE_ENST00000241069.5_Missense_Mutation_p.H436Y|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000302913.4_Missense_Mutation_p.H436Y			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	436					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	ACGACATTGTGGTCGCCCACC	0.667																																																	0													34	36	35					7																	100490202		2202	4298	6500	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1306C>T	7.37:g.100490202G>A	ENSP00000394976:p.His436Tyr		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.H436Y	ENST00000412389.1	37	c.1306	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	G	2.497	-0.316080	0.05422	.	.	ENSG00000087085	ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000411582;ENST00000422451	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	3.92	3.92	0.45320	Carboxylesterase, type B (1);	0.056204	0.64402	D	0.000001	T	0.06050	0.0157	N	0.00823	-1.155	0.53688	D	0.999979	P;P	0.46327	0.876;0.814	B;B	0.37508	0.252;0.238	T	0.42207	-0.9465	9	.	.	.	.	13.7912	0.63143	0.0:0.0:1.0:0.0	.	436;436	P22303-2;P22303	.;ACES_HUMAN	Y	436	ENSP00000241069:H436Y;ENSP00000414858:H436Y;ENSP00000303211:H436Y;ENSP00000394976:H436Y;ENSP00000404865:H436Y	.	H	-	1	0	ACHE	100328138	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.810000	0.47979	2.202000	0.70862	0.491000	0.48974	CAC	ACHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000087085		0.667	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0	107	0	G	NM_015831		100490202	-1	tier1	-	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	5.96	220	14	SNP	1.000	A	A	100490202	G	A	100490202	3	1	13	1	0	0	0	0	1	0	0	0	141	1348	47	3	685	3	ACHE	7	100490202	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8647638	100490202	58648461	287	3833											
PMPCB	9512	genome.wustl.edu	37	chr7	102950884	102950884	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatggtttgtgaatcatcCactgttgcagacatgctaca	11	14	8	8	0	1	2	1	1	0	1	2	2	2	2	1	1	3	4	1	1	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:102950884C>A	ENST00000249269.4	+	9	1154	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	PMPCB_ENST00000420236.2_Silent_p.S267S|PMPCB_ENST00000428154.1_Silent_p.S372S	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	372					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGAATCATCCACTGTTGCAG	0.343																																																	0													96	91	93					7																	102950884		2203	4300	6503	SO:0001819	synonymous_variant	0			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.1116C>A	7.37:g.102950884C>A			O60416|Q96FV4	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.S372	ENST00000249269.4	37	c.1116	CCDS5730.1	7																																																																																			PMPCB	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	ENSG00000105819		0.343	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	HGNC	protein_coding	OTTHUMT00000347913.1	-	0	74	0	C	NM_004279		102950884	1	tier1	-	no_errors	ENST00000249269	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	A	A	102950884	C	A	102950884	2	1	13	1	0	0	0	0	0	0	0	1	12180	581	21	3		3	PMPCB	7	102950884	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2460682	102950884	56187779	288	3834											
DLD	1738	genome.wustl.edu	37	chr7	107542800	107542800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaaaatgaaacacttGgtggaacatgcttgaatgtt	15	12	10	4	0	0	3	0	3	0	1	0	5	0	4	0	2	3	2	0	2	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:107542800G>T	ENST00000205402.5	+	4	510	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	DLD_ENST00000440410.1_Intron|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000437604.2_Missense_Mutation_p.G77C|DLD_ENST00000537148.1_Intron	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	77					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TGAAACACTTGGTGGAACATG	0.363																																																	0													301	264	277					7																	107542800		2203	4300	6503	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.229G>T	7.37:g.107542800G>T	ENSP00000205402:p.Gly77Cys		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH	p.G77C	ENST00000205402.5	37	c.229	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309915	0.81247	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000437604;ENST00000539590	T;T;T	0.76839	-1.05;-1.05;0.62	6.17	5.29	0.74685	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93919	0.8054	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96931	0.9681	10	0.87932	D	0	-15.5456	16.7039	0.85366	0.0:0.1294:0.8706:0.0	.	77;77	B4DT69;P09622	.;DLDH_HUMAN	C	77;77;77;27	ENSP00000205402:G77C;ENSP00000390667:G77C;ENSP00000387542:G77C	ENSP00000205402:G77C	G	+	1	0	DLD	107330036	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.450000	0.90340	1.609000	0.50190	-0.175000	0.13238	GGT	DLD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,pfam_GIDA-rel,tigrfam_Lipoamide_DH	ENSG00000091140		0.363	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	HGNC	protein_coding	OTTHUMT00000337194.3	-	0	69	0	G	NM_000108		107542800	1	tier1	-	no_errors	ENST00000205402	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	T	T	107542800	G	T	107542800	3	4	13	1	0	0	0	0	1	0	0	0	4565	1348	47	3	243	3	DLD	7	107542800	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4591916	107542800	51595863	289	3835											
LAMB4	22798	genome.wustl.edu	37	chr7	107696117	107696117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacttttaagaatttccCagatgggaaaacaggatgtt	13	13	9	6	0	0	3	0	1	0	2	1	5	1	5	1	2	1	1	1	2	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:107696117C>G	ENST00000388781.3	-	25	3798	c.3715G>C	c.(3715-3717)Ggg>Cgg	p.G1239R	LAMB4_ENST00000388780.3_Missense_Mutation_p.G1239R|LAMB4_ENST00000205386.4_Missense_Mutation_p.G1239R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1239	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AAGAATTTCCCAGATGGGAAA	0.408																																																	0													97	106	103					7																	107696117		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3715G>C	7.37:g.107696117C>G	ENSP00000373433:p.Gly1239Arg		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1239R	ENST00000388781.3	37	c.3715	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378272	0.24944	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.30448	1.53;1.53;1.94;1.56	4.91	4.91	0.64330	.	0.180534	0.26773	N	0.022563	T	0.16685	0.0401	N	0.08118	0	0.80722	D	1	B;P	0.43352	0.006;0.804	B;B	0.40506	0.009;0.331	T	0.07424	-1.0773	10	0.16896	T	0.51	.	13.9555	0.64144	0.0:0.8481:0.1519:0.0	.	1239;1239	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	R	1239;1239;265;1239	ENSP00000205386:G1239R;ENSP00000373433:G1239R;ENSP00000416562:G265R;ENSP00000373432:G1239R	ENSP00000205386:G1239R	G	-	1	0	LAMB4	107483353	0.002000	0.14202	0.965000	0.40720	0.980000	0.70556	1.323000	0.33701	2.549000	0.85964	0.555000	0.69702	GGG	LAMB4	-	NULL	ENSG00000091128		0.408	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	108	0	C	XM_209857		107696117	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.970	G	G	107696117	C	G	107696117	3	3	13	1	0	0	0	0	1	0	0	0	8641	594	21	5	1610	5	LAMB4	7	107696117	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	153317	107696117	51442546	290	3836											
MET	4233	genome.wustl.edu	37	chr7	116422132	116422132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagtttgtccacagagacTtggctgcaagaaactgtatg	14	10	10	7	0	0	2	0	0	0	2	1	3	1	2	1	1	2	4	1	1	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:116422132T>C	ENST00000318493.6	+	18	3854	c.3667T>C	c.(3667-3669)Ttg>Ctg	p.L1223L	MET_ENST00000397752.3_Silent_p.L1205L|MET_ENST00000539704.1_Silent_p.L75L			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L1223V(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCACAGAGACTTGGCTGCAAG	0.393			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - Missense(1)	kidney(1)											52	51	51					7																	116422132		1849	4100	5949	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3667T>C	7.37:g.116422132T>C			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.L1223	ENST00000318493.6	37	c.3667	CCDS47689.1	7																																																																																			MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105976		0.393	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0	29	0	T			116422132	1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	C	C	116422132	T	C	116422132	2	2	13	1	0	0	0	0	0	0	0	1	9523	1606	56	4		4	MET	7	116422132	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	8726015	116422132	42716531	291	3837											
CFTR	1080	genome.wustl.edu	37	chr7	117305556	117305556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaaacaagcatttgctGattgcacagtaattctctgt	12	14	6	9	0	2	1	0	1	2	0	3	1	2	1	0	0	4	4	0	0	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:117305556G>T	ENST00000003084.6	+	26	4312	c.4180G>T	c.(4180-4182)Gat>Tat	p.D1394Y	CFTR_ENST00000454343.1_Missense_Mutation_p.D1333Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1394	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AGCATTTGCTGATTGCACAGT	0.328									Cystic Fibrosis																																								0													99	98	98					7																	117305556		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4180G>T	7.37:g.117305556G>T	ENSP00000003084:p.Asp1394Tyr		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.D1394Y	ENST00000003084.6	37	c.4180	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859299	0.51376	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91237	-2.81;-2.81;-2.81	5.73	-0.0556	0.13809	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.491460	0.25335	N	0.031405	D	0.93478	0.7919	M	0.86651	2.83	0.33262	D	0.559918	P	0.43352	0.804	P	0.54372	0.75	D	0.93986	0.7262	10	0.87932	D	0	-4.7134	10.1754	0.42935	0.61:0.0:0.39:0.0	.	1394	P13569	CFTR_HUMAN	Y	1394;1333;1364	ENSP00000003084:D1394Y;ENSP00000403677:D1333Y;ENSP00000389119:D1364Y	ENSP00000003084:D1394Y	D	+	1	0	CFTR	117092792	1.000000	0.71417	0.962000	0.40283	0.823000	0.46562	2.122000	0.41987	0.102000	0.17638	-0.136000	0.14681	GAT	CFTR	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.328	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	-	0	24	0	G	NM_000492		117305556	1	tier1	-	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.661	T	T	117305556	G	T	117305556	3	4	13	1	0	0	0	0	1	0	0	0	3301	1290	45	3	4282	3	CFTR	7	117305556	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	883424	117305556	41833107	292	3838											
GPR37	2861	genome.wustl.edu	37	chr7	124404500	124404500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggccagtaaaaaagatcGctggctccggggactgtctt	9	10	12	10	2	1	1	0	0	1	1	3	2	2	2	2	4	0	3	2	4	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:124404500G>A	ENST00000303921.2	-	1	1181	c.531C>T	c.(529-531)agC>agT	p.S177S		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	177					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAAAAGATCGCTGGCTCCGG	0.602																																																	0													52	61	58					7																	124404500		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.531C>T	7.37:g.124404500G>A			A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.S177	ENST00000303921.2	37	c.531	CCDS5792.1	7																																																																																			GPR37	-	NULL	ENSG00000170775		0.602	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1		0	121	0	G	NM_005302		124404500	-1			no_errors	ENST00000303921	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.005	A	A	124404500	G	A	124404500	2	1	13	1	0	0	0	0	0	0	0	1	6717	1078	38	1		1	GPR37	7	124404500	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	7098944	124404500	34734163	293	3839											
FAM71F2	346653	genome.wustl.edu	37	chr7	128320107	128320107	+	Frame_Shift_Del	DEL	C	C	-																															tgaaaacagcctcctgtcatCcccccagcccagcgagcccc																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:128320107delC	ENST00000480462.1	+	4	744	c.638delC	c.(637-639)tccfs	p.S213fs	FAM71F2_ENST00000378704.3_Frame_Shift_Del_p.S204fs|FAM71F2_ENST00000477515.1_Frame_Shift_Del_p.P131fs			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	213										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CTCCTGTCATCCCCCCAGCCC	0.587																																																	0													26	28	27					7																	128320107		1934	4154	6088	SO:0001589	frameshift_variant	0			BC047310	CCDS47701.1, CCDS47702.1	7q32.1	2009-04-17	2007-11-20	2007-11-20	ENSG00000205085	ENSG00000205085			27998	protein-coding gene	gene with protein product			"family with sequence similarity 137, member B"	FAM137B		12477932	Standard	XM_006715964		Approved		uc003vnk.4	Q6NXP2	OTTHUMG00000158275	ENST00000480462.1:c.638delC	7.37:g.128320107delC	ENSP00000420140:p.Ser213fs		Q0VGF6|Q0VGF7|Q86X39	Frame_Shift_Del	DEL	pfam_DUF3699	p.Q215fs	ENST00000480462.1	37	c.638	CCDS47701.1	7																																																																																			FAM71F2	-	NULL	ENSG00000205085		0.587	FAM71F2-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FAM71F2	HGNC	protein_coding	OTTHUMT00000350537.1		0	61	0	C			128320107	1	tier1		no_errors	ENST00000480462	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.232	-	-	128320107	C	-	128320107	7	5	13	1	0	1	0	1	0	0	0	0	5635	855	30	0	652	0	FAM71F2	7	128320107	Frame_Shift_Del	DEL	C	TCGA-IC-A6RE-01A-11D-A33E-09	3915607	128320107	30818556	294	3840											
STRA8	346673	genome.wustl.edu	37	chr7	134916754	134916754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagattgatgtggacaaGatcctctttttcaatcaaga	13	12	10	6	0	3	4	2	1	1	3	4	6	4	6	1	2	0	0	1	2	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:134916754G>T	ENST00000275764.3	+	1	24	c.24G>T	c.(22-24)aaG>aaT	p.K8N		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						ATGTGGACAAGATCCTCTTTT	0.483																																																	0													129	121	124					7																	134916754		2203	4300	6503	SO:0001583	missense	0			AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"stimulated by retinoic acid gene 8 homolog (mouse)", "stimulated by retinoic acid 8 homolog (mouse)"			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.24G>T	7.37:g.134916754G>T	ENSP00000275764:p.Lys8Asn			Missense_Mutation	SNP	superfamily_bHLH_dom	p.K8N	ENST00000275764.3	37	c.24	CCDS5839.1	7	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842902	0.32606	.	.	ENSG00000146857	ENST00000275764	.	.	.	3.04	3.04	0.35103	.	.	.	.	.	T	0.28928	0.0718	L	0.29908	0.895	0.09310	N	1	B	0.30889	0.299	B	0.22152	0.038	T	0.15983	-1.0418	8	0.56958	D	0.05	-0.0247	9.7978	0.40746	0.0:0.0:1.0:0.0	.	8	Q7Z7C7	STRA8_HUMAN	N	8	.	ENSP00000275764:K8N	K	+	3	2	STRA8	134567294	0.073000	0.21202	0.020000	0.16555	0.298000	0.27526	0.923000	0.28757	2.009000	0.58944	0.561000	0.74099	AAG	STRA8	-	NULL	ENSG00000146857		0.483	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA8	HGNC	protein_coding	OTTHUMT00000340028.1		0	71	0	G	NM_182489		134916754	1			no_errors	ENST00000275764	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.024	T	T	134916754	G	T	134916754	3	4	13	1	0	0	0	0	1	0	0	0	15370	933	33	3	26	3	STRA8	7	134916754	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6596647	134916754	24221909	295	3841											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147675066	147675066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgagcgtaggtcctctgCgctgccaaggagacagtaag	11	8	13	9	2	1	2	0	1	1	1	2	3	2	2	2	2	3	3	2	2	4	3	rs200089329		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:147675066C>T	ENST00000361727.3	+	15	2884	c.2368C>T	c.(2368-2370)Cgc>Tgc	p.R790C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	790	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGGTCCTCTGCGCTGCCAAGG	0.468										HNSCC(39;0.1)																																							0													127	107	114					7																	147675066		2203	4300	6503	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2368C>T	7.37:g.147675066C>T	ENSP00000354778:p.Arg790Cys		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R790C	ENST00000361727.3	37	c.2368	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598388	0.87055	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.13778	2.56;2.56	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.88570	2.965	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.47407	-0.9120	10	0.56958	D	0.05	.	18.1972	0.89826	0.0:1.0:0.0:0.0	.	790	Q9UHC6	CNTP2_HUMAN	C	790;181	ENSP00000354778:R790C;ENSP00000392208:R181C	ENSP00000354778:R790C	R	+	1	0	CNTNAP2	147305999	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.329000	0.79170	2.640000	0.89533	0.655000	0.94253	CGC	CNTNAP2	-	NULL	ENSG00000174469		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0	51	0	C			147675066	1	tier1	rs200089329	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	T	T	147675066	C	T	147675066	3	4	13	1	0	0	0	0	1	0	0	0	3654	768	27	1	2426	1	CNTNAP2	7	147675066	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	12758312	147675066	11463597	296	3842											
ZNF467	168544	genome.wustl.edu	37	chr7	149462894	149462894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgcgtgcgcaggtggcGggtcagatgggccttcttgc	3	10	18	10	4	2	1	1	0	1	1	2	1	2	1	1	4	3	1	1	4	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:149462894G>T	ENST00000302017.3	-	5	1110	c.697C>A	c.(697-699)Cgc>Agc	p.R233S	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCAGGTGGCGGGTCAGATGG	0.682																																																	0													18	16	17					7																	149462894		2201	4297	6498	SO:0001583	missense	0			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.697C>A	7.37:g.149462894G>T	ENSP00000304769:p.Arg233Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R233S	ENST00000302017.3	37	c.697	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	g	15.81	2.941755	0.53079	.	.	ENSG00000181444	ENST00000302017	T	0.07021	3.23	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32093	U	0.006589	T	0.12817	0.0311	N	0.16833	0.445	0.29607	N	0.847194	D	0.89917	1.0	D	0.85130	0.997	T	0.10042	-1.0647	10	0.17832	T	0.49	-23.3294	12.1655	0.54127	0.0:0.0:0.8282:0.1718	.	233	Q7Z7K2	ZN467_HUMAN	S	233	ENSP00000304769:R233S	ENSP00000304769:R233S	R	-	1	0	ZNF467	149093827	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	0.011000	0.13264	1.779000	0.52309	0.306000	0.20318	CGC	ZNF467	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181444		0.682	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	-	0	51	0	G	NM_207336		149462894	-1	tier1	-	no_errors	ENST00000302017	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.999	T	T	149462894	G	T	149462894	3	4	13	1	0	0	0	0	1	0	0	0	17975	1116	39	2	1094	2	ZNF467	7	149462894	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1787828	149462894	9675769	297	3843											
ACTR3B	57180	genome.wustl.edu	37	chr7	152513671	152513671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcacccatgttatcccaGtggtaagcagaatagttaat	13	11	9	8	0	1	1	1	0	0	1	2	2	2	1	2	1	1	4	2	1	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:152513671G>T	ENST00000256001.8	+	6	672	c.538G>T	c.(538-540)Gtg>Ttg	p.V180L	ACTR3B_ENST00000397282.2_Missense_Mutation_p.V92L|ACTR3B_ENST00000537264.1_Missense_Mutation_p.V92L|ACTR3B_ENST00000377776.3_Missense_Mutation_p.V180L	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	180						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGTTATCCCAGTGGTAAGCAG	0.433																																																	0													44	35	38					7																	152513671		2202	4295	6497	SO:0001583	missense	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.538G>T	7.37:g.152513671G>T	ENSP00000256001:p.Val180Leu		A8MTG1|B4DFW4|Q7Z526|Q96BT2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.V180L	ENST00000256001.8	37	c.538	CCDS5934.1	7	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214875	0.58452	.	.	ENSG00000133627	ENST00000377776;ENST00000256001;ENST00000397282;ENST00000537264	D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21	4.66	4.66	0.58398	.	0.000000	0.56097	U	0.000036	D	0.97182	0.9079	H	0.95294	3.65	0.53688	D	0.999979	B;B	0.25441	0.126;0.021	B;B	0.25614	0.044;0.062	D	0.97199	0.9863	10	0.59425	D	0.04	-9.1292	16.5518	0.84474	0.0:0.0:1.0:0.0	.	180;180	Q9P1U1-3;Q9P1U1	.;ARP3B_HUMAN	L	180;180;92;92	ENSP00000367007:V180L;ENSP00000256001:V180L;ENSP00000380452:V92L;ENSP00000446157:V92L	ENSP00000256001:V180L	V	+	1	0	ACTR3B	152144604	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	9.470000	0.97683	2.137000	0.66172	0.491000	0.48974	GTG	ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.433	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0	104	0	G	NM_020445		152513671	1	tier1	-	no_errors	ENST00000256001	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	152513671	G	T	152513671	3	4	13	1	0	0	0	0	1	0	0	0	213	1029	36	3	560	3	ACTR3B	7	152513671	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3050777	152513671	6624992	298	3844											
INSIG1	3638	genome.wustl.edu	37	chr7	155090010	155090010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgatgcccagattgcaCgaccacttctggagctgctc	8	9	10	14	2	1	2	0	1	1	1	2	5	1	3	3	1	4	3	3	1	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:155090010C>T	ENST00000340368.4	+	2	226	c.15C>T	c.(13-15)caC>caT	p.H5H	AC144652.1_ENST00000609974.1_lincRNA|INSIG1_ENST00000342407.5_Silent_p.H5H|INSIG1_ENST00000344756.4_Silent_p.H5H	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	5					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGATTGCACGACCACTTCT	0.657																																																	0													8	9	9					7																	155090010		2173	4232	6405	SO:0001819	synonymous_variant	0				CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"INSIG-1 membrane protein"	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.15C>T	7.37:g.155090010C>T			A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Silent	SNP	pfam_INSIG_fam	p.H5	ENST00000340368.4	37	c.15	CCDS5938.1	7																																																																																			INSIG1	-	NULL	ENSG00000186480		0.657	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG1	HGNC	protein_coding	OTTHUMT00000322244.3	-	0	110	0	C	NM_198336		155090010	1	tier1	-	no_errors	ENST00000340368	ensembl	human	known	74_37	silent	10.71	50	6	SNP	1.000	T	T	155090010	C	T	155090010	2	4	13	1	0	0	0	0	0	0	0	1	7792	535	19	1		1	INSIG1	7	155090010	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2576339	155090010	4048653	299	3845											
CNPY1	285888	genome.wustl.edu	37	chr7	155301718	155301718	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacagggtcttcctcaagCttgtagtcgttcattcgctc	6	14	9	12	2	4	0	3	0	1	0	8	0	5	0	1	1	1	4	1	1	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr7:155301718C>T	ENST00000321736.5	-	2	177	c.15G>A	c.(13-15)aaG>aaA	p.K5K	AC008060.5_ENST00000415333.1_RNA|CNPY1_ENST00000406197.1_Silent_p.K5K	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	5										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTCCTCAAGCTTGTAGTCGT	0.423																																																	0													66	65	65					7																	155301718		1837	4087	5924	SO:0001819	synonymous_variant	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"canopy 1 homolog (zebrafish)"			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.15G>A	7.37:g.155301718C>T			A6NGX3	Silent	SNP	pfam_DUF3456	p.K5	ENST00000321736.5	37	c.15	CCDS43684.1	7																																																																																			CNPY1	-	pfam_DUF3456	ENSG00000146910		0.423	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1	-	0	52	0	C	XM_001129537		155301718	-1	tier1	-	no_errors	ENST00000321736	ensembl	human	putative	74_37	silent	50.98	25	26	SNP	0.993	T	T	155301718	C	T	155301718	2	4	13	1	0	0	0	0	0	0	0	1	3634	796	28	3		3	CNPY1	7	155301718	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	211708	155301718	3836945	300	3846											
USP17L2	377630	genome.wustl.edu	37	chr8	11996188	11996188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctggatttcagcaaaagCtgcatctggccgagaagatg	11	8	12	10	2	2	2	1	0	1	2	2	4	2	3	2	2	3	4	2	2	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:11996188C>T	ENST00000333796.3	-	1	398	c.82G>A	c.(82-84)Gct>Act	p.A28T	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	28					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCAGCAAAAGCTGCATCTGGC	0.527																																																	0													22	26	25					8																	11996188		945	2140	3085	SO:0001583	missense	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.82G>A	8.37:g.11996188C>T	ENSP00000333329:p.Ala28Thr			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.A28T	ENST00000333796.3	37	c.82	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	c	7.642	0.681184	0.14907	.	.	ENSG00000223443	ENST00000333796	T	0.12774	2.65	0.36	0.36	0.16097	.	4.515270	0.01953	U	0.042814	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	P	0.36438	0.553	B	0.28553	0.091	T	0.27400	-1.0075	9	0.59425	D	0.04	.	.	.	.	.	28	Q6R6M4	U17L2_HUMAN	T	28	ENSP00000333329:A28T	ENSP00000333329:A28T	A	-	1	0	USP17L2	12033597	0.035000	0.19736	0.004000	0.12327	0.004000	0.04260	0.442000	0.21628	0.469000	0.27268	0.472000	0.43445	GCT	USP17L2	-	NULL	ENSG00000223443		0.527	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2		0	216	0	C	NM_201402		11996188	-1			no_errors	ENST00000333796	ensembl	human	known	74_37	missense	6.56	114	8	SNP	0.028	T	T	11996188	C	T	11996188	3	4	13	1	0	0	0	0	1	0	0	0	17097	797	28	3	1514	3	USP17L2	8	11996188	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09		11996188	134367834	301	3847											
CSGALNACT1	55790	genome.wustl.edu	37	chr8	19362935	19362935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatactctgtggccagcttGacgccagcattcacctctgc	7	10	9	15	1	3	1	1	1	2	0	3	1	3	1	3	1	4	3	3	1	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:19362935G>T	ENST00000454498.2	-	4	1424	c.411C>A	c.(409-411)gtC>gtA	p.V137V	CSGALNACT1_ENST00000544602.1_Silent_p.V137V|CSGALNACT1_ENST00000522854.1_Silent_p.V137V|CSGALNACT1_ENST00000311540.4_Silent_p.V137V|CSGALNACT1_ENST00000332246.6_Silent_p.V137V	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	137			V -> I (in dbSNP:rs17128518).		anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TGGCCAGCTTGACGCCAGCAT	0.607																																																	0													70	68	69					8																	19362935		2203	4300	6503	SO:0001819	synonymous_variant	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"Beta 4-glycosyltransferases"	24290	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase"					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.411C>A	8.37:g.19362935G>T			B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	pfam_Chond_GalNAc	p.V137	ENST00000454498.2	37	c.411	CCDS6010.1	8																																																																																			CSGALNACT1	-	NULL	ENSG00000147408		0.607	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	-	0	22	0	G	NM_018371		19362935	-1	tier1	-	no_errors	ENST00000311540	ensembl	human	known	74_37	silent	70.00	3	7	SNP	0.987	T	T	19362935	G	T	19362935	2	4	13	1	0	0	0	0	0	0	0	1	3947	1277	45	3		3	CSGALNACT1	8	19362935	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	7366747	19362935	127001087	302	3848											
TEX15	56154	genome.wustl.edu	37	chr8	30702827	30702827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttatgcaacttaaaGatacagaattactttcattt	13	19	3	6	0	2	2	1	0	1	2	2	2	2	2	0	0	4	1	0	0	7	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:30702827G>T	ENST00000256246.2	-	1	3781	c.3707C>A	c.(3706-3708)tCt>tAt	p.S1236Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1236					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCAACTTAAAGATACAGAATT	0.318																																																	0													54	53	54					8																	30702827		2203	4298	6501	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3707C>A	8.37:g.30702827G>T	ENSP00000256246:p.Ser1236Tyr			Missense_Mutation	SNP	NULL	p.S1236Y	ENST00000256246.2	37	c.3707	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.340043	0.00224	.	.	ENSG00000133863	ENST00000256246	T	0.23950	1.88	5.56	1.16	0.20824	.	0.431110	0.22426	N	0.060201	T	0.17323	0.0416	L	0.45581	1.43	0.09310	N	1	P	0.40332	0.713	B	0.36845	0.234	T	0.16424	-1.0403	10	0.87932	D	0	.	3.218	0.06705	0.3251:0.0:0.4928:0.1821	.	1236	Q9BXT5	TEX15_HUMAN	Y	1236	ENSP00000256246:S1236Y	ENSP00000256246:S1236Y	S	-	2	0	TEX15	30822369	0.053000	0.20554	0.017000	0.16124	0.018000	0.09664	0.973000	0.29422	0.385000	0.24970	-0.140000	0.14226	TCT	TEX15	-	NULL	ENSG00000133863		0.318	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1		0	32	0	G			30702827	-1			no_errors	ENST00000256246	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.023	T	T	30702827	G	T	30702827	3	4	13	1	0	0	0	0	1	0	0	0	15826	942	33	3	4678	3	TEX15	8	30702827	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	11339892	30702827	115661195	303	3849											
POLB	5423	genome.wustl.edu	37	chr8	42207570	42207570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaatttcctgactcgaGttagtggcattgggtaagaa	11	12	10	8	1	1	2	1	1	0	1	3	3	2	2	2	2	0	3	2	2	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:42207570G>A	ENST00000265421.4	+	5	477	c.307G>A	c.(307-309)Gtt>Att	p.V103I	POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	103					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CCTGACTCGAGTTAGTGGCAT	0.338								DNA polymerases (catalytic subunits)																																									0													144	132	136					8																	42207570		2203	4300	6503	SO:0001583	missense	0				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"DNA polymerases"	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.307G>A	8.37:g.42207570G>A	ENSP00000265421:p.Val103Ile		B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.V103I	ENST00000265421.4	37	c.307	CCDS6129.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.93|18.93	3.728513|3.728513	0.69074|0.69074	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290|ENST00000265421;ENST00000518925	.|T;T	.|0.46063	.|1.02;0.88	5.43|5.43	5.43|5.43	0.79202|0.79202	.|DNA-directed DNA polymerase X (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);DNA polymerase lambda, fingers domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46814|0.46814	0.1412|0.1412	L|L	0.37750|0.37750	1.13|1.13	0.80722|0.80722	D|D	1|1	.|B;B	.|0.28400	.|0.127;0.21	.|P;B	.|0.45506	.|0.483;0.341	T|T	0.31861|0.31861	-0.9928|-0.9928	5|10	.|0.18276	.|T	.|0.48	-14.1051|-14.1051	16.7199|16.7199	0.85407|0.85407	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;103	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	N|I	33|103	.|ENSP00000265421:V103I;ENSP00000430784:V103I	.|ENSP00000265421:V103I	S|V	+|+	2|1	0|0	POLB|POLB	42326727|42326727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	6.826000|6.826000	0.75298|0.75298	2.538000|2.538000	0.85594|0.85594	0.591000|0.591000	0.81541|0.81541	AGT|GTT	POLB	-	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif	ENSG00000070501		0.338	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	-	0	59	0	G	NM_002690		42207570	1	tier1	-	no_errors	ENST00000265421	ensembl	human	known	74_37	missense	36.84	24	14	SNP	1.000	A	A	42207570	G	A	42207570	3	1	13	1	0	0	0	0	1	0	0	0	12228	1029	36	3	325	3	POLB	8	42207570	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	11504743	42207570	104156452	304	3850											
MCM4	4173	genome.wustl.edu	37	chr8	48882478	48882478	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaaacgtctgcatggccTtgatgaagaagcagaacaga	15	7	11	8	1	1	5	0	2	1	3	1	5	1	5	1	1	5	3	1	1	5	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:48882478T>G	ENST00000262105.2	+	10	1504	c.1295T>G	c.(1294-1296)cTt>cGt	p.L432R	MCM4_ENST00000518680.1_3'UTR|MCM4_ENST00000523944.1_Missense_Mutation_p.L432R	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	432					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTGCATGGCCTTGATGAAGAA	0.413																																																	0													163	153	156					8																	48882478		2203	4300	6503	SO:0001583	missense	0				CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1295T>G	8.37:g.48882478T>G	ENSP00000262105:p.Leu432Arg		Q8NEH1|Q99658	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase	p.L432R	ENST00000262105.2	37	c.1295	CCDS6143.1	8	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808745	0.31961	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.08807	4.0;4.0;3.05	6.17	5.01	0.66863	.	0.188896	0.47455	D	0.000229	T	0.08891	0.0220	L	0.46157	1.445	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.12372	-1.0550	10	0.13108	T	0.6	-12.996	13.7445	0.62868	0.0:0.0:0.1283:0.8716	.	432;432	B3KMX0;P33991	.;MCM4_HUMAN	R	432;432;419;392;150	ENSP00000430194:L432R;ENSP00000262105:L432R;ENSP00000427875:L150R	ENSP00000262105:L432R	L	+	2	0	MCM4	49045031	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	5.805000	0.69143	1.137000	0.42214	0.533000	0.62120	CTT	MCM4	-	smart_MCM_DNA-dep_ATPase	ENSG00000104738		0.413	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM4	HGNC	protein_coding	OTTHUMT00000377791.1	-	0	126	0	T	NM_005914		48882478	1	tier1	-	no_errors	ENST00000262105	ensembl	human	known	74_37	missense	11.96	81	11	SNP	0.989	G	G	48882478	T	G	48882478	3	3	13	1	0	0	0	0	1	0	0	0	9427	1609	56	4	1333	4	MCM4	8	48882478	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6674908	48882478	97481544	305	3851											
RB1CC1	9821	genome.wustl.edu	37	chr8	53570013	53570013	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaactggacattcagagaAgtatgatctccaaaatcctc	14	10	6	11	0	2	2	1	1	1	1	6	4	4	3	3	1	1	1	3	1	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:53570013A>C	ENST00000025008.5	-	15	2899	c.2376T>G	c.(2374-2376)acT>acG	p.T792T	RB1CC1_ENST00000539297.1_Silent_p.T792T|RB1CC1_ENST00000435644.2_Silent_p.T792T|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	792					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CATTCAGAGAAGTATGATCTC	0.388																																					GBM(180;1701 2102 13475 42023 52570)												0													164	152	156					8																	53570013		2203	4300	6503	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2376T>G	8.37:g.53570013A>C			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.T792	ENST00000025008.5	37	c.2376	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.388	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0	29	0	A	NM_014781		53570013	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	silent	43.14	29	22	SNP	0.000	C	C	53570013	A	C	53570013	2	2	13	1	0	0	0	0	0	0	0	1	13144	59	3	4		4	RB1CC1	8	53570013	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4687535	53570013	92794009	306	3852											
PREX2	80243	genome.wustl.edu	37	chr8	68993022	68993022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggctttggattagaagaCaaaaataaagttccaataat	18	12	7	4	0	0	2	0	0	0	2	1	3	1	3	1	2	0	2	1	2	9	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:68993022C>T	ENST00000288368.4	+	17	2104	c.1827C>T	c.(1825-1827)gaC>gaT	p.D609D	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	609	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GATTAGAAGACAAAAATAAAG	0.264																																																	0													67	73	71					8																	68993022		2202	4298	6500	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1827C>T	8.37:g.68993022C>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D609	ENST00000288368.4	37	c.1827	CCDS6201.1	8																																																																																			PREX2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000046889		0.264	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	117	0	C	NM_025170		68993022	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	31.52	63	29	SNP	1.000	T	T	68993022	C	T	68993022	2	4	13	1	0	0	0	0	0	0	0	1	12519	477	17	3		3	PREX2	8	68993022	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	15423009	68993022	77371000	307	3853											
EYA1	2138	genome.wustl.edu	37	chr8	72234487	72234487	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagttggtcgtgggctgaaActactgctcccaattgctgg	7	12	13	9	1	0	2	0	2	0	0	2	2	1	2	1	3	4	4	1	3	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:72234487A>G	ENST00000340726.3	-	5	858	c.219T>C	c.(217-219)agT>agC	p.S73S	EYA1_ENST00000388740.3_Silent_p.S40S|EYA1_ENST00000388741.2_Silent_p.S40S|EYA1_ENST00000419131.1_Silent_p.S73S|EYA1_ENST00000388742.4_Silent_p.S73S|EYA1_ENST00000303824.7_Silent_p.S73S|EYA1_ENST00000388743.2_Silent_p.S73S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	73					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTGGGCTGAAACTACTGCTCC	0.353																																																	0													102	105	104					8																	72234487		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.219T>C	8.37:g.72234487A>G			A6NHQ0|G5E9R4|Q0P516|Q8WX80	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.S73	ENST00000340726.3	37	c.219	CCDS34906.1	8																																																																																			EYA1	-	NULL	ENSG00000104313		0.353	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	-	0	59	0	A	NM_000503, NM_172060		72234487	-1	tier1	-	no_errors	ENST00000340726	ensembl	human	known	74_37	silent	65.38	18	34	SNP	1.000	G	G	72234487	A	G	72234487	2	3	13	1	0	0	0	0	0	0	0	1	5344	40	2	4		4	EYA1	8	72234487	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3241465	72234487	74129535	308	3854											
TRPA1	8989	genome.wustl.edu	37	chr8	72964920	72964920	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaggcctgctgcttgttcagGactatgtcagcattgtggct	6	13	13	9	0	2	0	2	0	0	0	2	2	2	1	1	3	3	5	1	3	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:72964920G>C	ENST00000262209.4	-	14	1932	c.1725C>G	c.(1723-1725)gtC>gtG	p.V575V	RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	575					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCTTGTTCAGGACTATGTCAG	0.478																																																	0													165	140	148					8																	72964920		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1725C>G	8.37:g.72964920G>C			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V575	ENST00000262209.4	37	c.1725	CCDS34908.1	8																																																																																			TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.478	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	64	0	G	NM_007332		72964920	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	23.94	54	17	SNP	0.682	C	C	72964920	G	C	72964920	2	2	13	1	0	0	0	0	0	0	0	1	16625	1161	41	5		5	TRPA1	8	72964920	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	730433	72964920	73399102	309	3855											
RDH10	157506	genome.wustl.edu	37	chr8	74209587	74209587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataatgctggtgtggtcTctgggcatcaccttctggaa	8	13	11	9	0	4	0	2	0	2	0	5	1	4	1	1	4	1	2	1	4	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:74209587T>C	ENST00000240285.5	+	2	1126	c.448T>C	c.(448-450)Tct>Cct	p.S150P	RP11-434I12.2_ENST00000520894.1_RNA|RPL7_ENST00000396465.1_5'Flank|RPL7_ENST00000396466.1_5'Flank|RDH10_ENST00000519380.1_5'UTR	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	150					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TGGTGTGGTCTCTGGGCATCA	0.493																																																	0													250	205	220					8																	74209587		2203	4300	6503	SO:0001583	missense	0			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.448T>C	8.37:g.74209587T>C	ENSP00000240285:p.Ser150Pro			Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.S150P	ENST00000240285.5	37	c.448	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933541	0.73442	.	.	ENSG00000121039	ENST00000240285	D	0.87412	-2.25	4.84	4.84	0.62591	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	N	0.17872	0.535	0.80722	D	1	D	0.64830	0.994	P	0.60789	0.879	D	0.84824	0.0798	10	0.27082	T	0.32	.	14.8732	0.70474	0.0:0.0:0.0:1.0	.	150	Q8IZV5	RDH10_HUMAN	P	150	ENSP00000240285:S150P	ENSP00000240285:S150P	S	+	1	0	RDH10	74372141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.216000	0.51176	2.157000	0.67596	0.533000	0.62120	TCT	RDH10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000121039		0.493	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	HGNC	protein_coding	OTTHUMT00000378982.1	-	0	99	0	T			74209587	1	tier1	-	no_errors	ENST00000240285	ensembl	human	known	74_37	missense	9.46	67	7	SNP	1.000	C	C	74209587	T	C	74209587	3	2	13	1	0	0	0	0	1	0	0	0	13234	1551	54	4	454	4	RDH10	8	74209587	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1244667	74209587	72154435	310	3856											
NBN	4683	genome.wustl.edu	37	chr8	90983510	90983510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatggttcatcaagaggtGggtaaaaactgtaaaaataa	18	10	10	3	0	2	2	2	0	0	2	2	2	2	2	0	3	1	3	0	3	9	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:90983510G>T	ENST00000265433.3	-	6	747	c.593C>A	c.(592-594)cCa>cAa	p.P198Q	NBN_ENST00000409330.1_Missense_Mutation_p.P116Q	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	198	Mediates interaction with SP100. {ECO:0000250}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATCAAGAGGTGGGTAAAAACT	0.299								Homologous recombination																																									0													45	46	46					8																	90983510		2201	4294	6495	SO:0001583	missense	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.593C>A	8.37:g.90983510G>T	ENSP00000265433:p.Pro198Gln		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.P198Q	ENST00000265433.3	37	c.593	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382702	0.82792	.	.	ENSG00000104320	ENST00000265433;ENST00000409330;ENST00000452387;ENST00000519426;ENST00000517772	T;T;T;T	0.79940	-1.32;-1.11;1.31;-1.14	5.84	5.84	0.93424	.	0.050989	0.85682	D	0.000000	D	0.91633	0.7356	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92172	0.5744	10	0.87932	D	0	-17.6889	20.1346	0.98019	0.0:0.0:1.0:0.0	.	198;198	A6H8Y5;O60934	.;NBN_HUMAN	Q	198;116;198;110;116	ENSP00000265433:P198Q;ENSP00000386924:P116Q;ENSP00000430983:P110Q;ENSP00000428717:P116Q	ENSP00000265433:P198Q	P	-	2	0	NBN	91052686	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.987000	0.76206	2.765000	0.95021	0.655000	0.94253	CCA	NBN	-	pirsf_Nibrin_met	ENSG00000104320		0.299	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	-	0	59	0	G	NM_001024688		90983510	-1	tier1	-	no_errors	ENST00000265433	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	T	T	90983510	G	T	90983510	3	4	13	1	0	0	0	0	1	0	0	0	10229	1348	47	3	1715	3	NBN	8	90983510	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	16773923	90983510	55380512	311	3857											
TM7SF4	81501	genome.wustl.edu	37	chr8	105361786	105361786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagcttgccagggtttgagGttcacttgaaactgcacgga	11	10	12	8	1	1	2	1	2	0	0	1	3	1	3	1	3	4	4	1	3	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:105361786G>A	ENST00000297581.2	+	2	1055	c.1006G>A	c.(1006-1008)Gtt>Att	p.V336I	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	336					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AGGGTTTGAGGTTCACTTGAA	0.493																																																	0													123	124	124					8																	105361786		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1006G>A	8.37:g.105361786G>A	ENSP00000297581:p.Val336Ile		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.V336I	ENST00000297581.2	37	c.1006	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516179	0.44763	.	.	ENSG00000164935	ENST00000297581	T	0.29917	1.55	5.5	3.7	0.42460	Dendritic cell-specific transmembrane protein-like (1);	0.060333	0.64402	D	0.000004	T	0.29256	0.0728	M	0.69823	2.125	0.80722	D	1	P	0.47034	0.889	B	0.43658	0.426	T	0.17715	-1.0360	10	0.11794	T	0.64	-9.8388	6.0063	0.19549	0.1671:0.0:0.6794:0.1535	.	336	Q9H295	TM7S4_HUMAN	I	336	ENSP00000297581:V336I	ENSP00000297581:V336I	V	+	1	0	TM7SF4	105430962	1.000000	0.71417	0.936000	0.37596	0.863000	0.49368	2.291000	0.43540	0.687000	0.31509	0.555000	0.69702	GTT	DCSTAMP	-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	ENSG00000164935		0.493	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	-	0	69	0	G	NM_030788		105361786	1	tier1	-	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	11.86	52	7	SNP	0.993	A	A	105361786	G	A	105361786	3	1	13	1	0	0	0	0	1	0	0	0	16023	1261	44	3	1008	3	TM7SF4	8	105361786	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	14378276	105361786	41002236	312	3858											
LRP12	29967	genome.wustl.edu	37	chr8	105509676	105509676	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaacccatctacttggtaAgtagcattaaatccccttgc	12	11	6	12	0	1	1	0	0	1	1	2	1	2	1	3	1	4	3	3	1	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:105509676A>C	ENST00000276654.5	-	5	1212	c.1104T>G	c.(1102-1104)acT>acG	p.T368T	LRP12_ENST00000424843.2_Silent_p.T349T|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	368	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTACTTGGTAAGTAGCATTAA	0.443																																																	0													107	108	108					8																	105509676		2203	4300	6503	SO:0001819	synonymous_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1104T>G	8.37:g.105509676A>C			A8K137|B4DRQ2	Silent	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.T349	ENST00000276654.5	37	c.1047	CCDS6303.1	8																																																																																			LRP12	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000147650		0.443	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	54	0	A	NM_013437		105509676	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	silent	68.18	14	30	SNP	0.998	C	C	105509676	A	C	105509676	2	2	13	1	0	0	0	0	0	0	0	1	8989	59	3	4		4	LRP12	8	105509676	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	147890	105509676	40854346	313	3859											
ZFPM2	23414	genome.wustl.edu	37	chr8	106814840	106814840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctcagtctgagcggacgAccacgtctcccaaaaggctg	10	8	10	13	3	3	1	1	1	3	0	5	3	3	2	2	2	1	1	2	2	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:106814840A>G	ENST00000407775.2	+	8	2780	c.2530A>G	c.(2530-2532)Acc>Gcc	p.T844A	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T575A|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T712A|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T712A|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	844					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGAGCGGACGACCACGTCTCC	0.458																																																	0													49	44	46					8																	106814840		1956	4166	6122	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2530A>G	8.37:g.106814840A>G	ENSP00000384179:p.Thr844Ala		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T844A	ENST00000407775.2	37	c.2530	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622594	0.14193	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.17370	2.28;2.78;2.78;3.99	5.86	4.66	0.58398	.	0.135969	0.64402	D	0.000002	T	0.07728	0.0194	N	0.08118	0	0.26163	N	0.97998	B	0.11235	0.004	B	0.04013	0.001	T	0.31420	-0.9944	10	0.16420	T	0.52	.	8.6656	0.34118	0.6209:0.0:0.0:0.3791	.	844	Q8WW38	FOG2_HUMAN	A	844;712;712;575	ENSP00000384179:T844A;ENSP00000430757:T712A;ENSP00000428720:T712A;ENSP00000367733:T575A	ENSP00000367733:T575A	T	+	1	0	ZFPM2	106884016	0.994000	0.37717	0.047000	0.18901	0.988000	0.76386	3.688000	0.54699	2.241000	0.73720	0.533000	0.62120	ACC	ZFPM2	-	NULL	ENSG00000169946		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	45	0	A			106814840	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	65.38	18	34	SNP	0.639	G	G	106814840	A	G	106814840	3	3	13	1	0	0	0	0	1	0	0	0	17706	275	10	4	2560	4	ZFPM2	8	106814840	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1305164	106814840	39549182	314	3860											
RSPO2	340419	genome.wustl.edu	37	chr8	109094778	109094778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagagggacccacctcgcTtactgcgtctccatcggttg	7	9	11	14	3	1	1	0	0	1	1	4	3	1	2	3	2	2	2	3	2	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:109094778T>C	ENST00000276659.5	-	2	709	c.89A>G	c.(88-90)aAg>aGg	p.K30R	RSPO2_ENST00000378439.2_Missense_Mutation_p.K30R|RSPO2_ENST00000517781.1_Missense_Mutation_p.K30R|RSPO2_ENST00000517939.1_5'Flank	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	30					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACCTCGCTTACTGCGTCT	0.612																																																	0													109	93	98					8																	109094778		2203	4300	6503	SO:0001583	missense	0			AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"Endogenous ligands"	28583	protein-coding gene	gene with protein product		610575	"R-spondin 2 homolog (Xenopus laevis)"			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.89A>G	8.37:g.109094778T>C	ENSP00000276659:p.Lys30Arg		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.K30R	ENST00000276659.5	37	c.89	CCDS6307.1	8	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427117	0.62733	.	.	ENSG00000147655	ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521956;ENST00000522333	T;T;T;T;T	0.80824	-0.62;-0.62;-1.42;-0.0;-1.42	5.57	5.57	0.84162	Growth factor, receptor (1);	0.488201	0.19558	N	0.111399	T	0.80854	0.4703	N	0.25647	0.755	0.34176	D	0.670382	D;D	0.67145	0.996;0.996	D;D	0.73708	0.981;0.981	T	0.76005	-0.3117	10	0.02654	T	1	-0.6369	15.396	0.74794	0.0:0.0:0.0:1.0	.	30;30	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	R	30	ENSP00000427937:K30R;ENSP00000367698:K30R;ENSP00000276659:K30R;ENSP00000430010:K30R;ENSP00000430973:K30R	ENSP00000276659:K30R	K	-	2	0	RSPO2	109163954	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.189000	0.65098	2.118000	0.64928	0.482000	0.46254	AAG	RSPO2	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000147655		0.612	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO2	HGNC	protein_coding	OTTHUMT00000380830.1	-	0	66	0	T	NM_178565		109094778	-1	tier1	-	no_errors	ENST00000276659	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	C	C	109094778	T	C	109094778	3	2	13	1	0	0	0	0	1	0	0	0	13755	1609	56	4	662	4	RSPO2	8	109094778	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2279938	109094778	37269244	315	3861											
CSMD3	114788	genome.wustl.edu	37	chr8	113318414	113318414	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctttaggaatcccacaGgaaattgctagaaaaacata	17	8	9	7	0	0	1	0	0	0	1	1	4	1	4	1	3	3	2	1	3	7	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:113318414G>T	ENST00000297405.5	-	51	8137	c.7893C>A	c.(7891-7893)tcC>tcA	p.S2631S	CSMD3_ENST00000343508.3_Silent_p.S2591S|CSMD3_ENST00000455883.2_Silent_p.S2527S|CSMD3_ENST00000352409.3_Silent_p.S2561S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2631	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATCCCACAGGAAATTGCTA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													78	73	75					8																	113318414		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7893C>A	8.37:g.113318414G>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2631	ENST00000297405.5	37	c.7893	CCDS6315.1	8																																																																																			CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	31	0	G	NM_052900		113318414	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	113318414	G	T	113318414	2	4	13	1	0	0	0	0	0	0	0	1	3955	987	35	3		3	CSMD3	8	113318414	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4223636	113318414	33045608	316	3862											
CSMD3	114788	genome.wustl.edu	37	chr8	114448977	114448977	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttttaatccccattttcTtcatcaggatgaagtctagg	10	15	6	10	0	4	1	2	1	2	0	5	2	5	2	2	2	0	0	2	2	3	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:114448977T>G	ENST00000297405.5	-	1	351	c.107A>C	c.(106-108)aAg>aCg	p.K36T	CSMD3_ENST00000455883.2_Missense_Mutation_p.K36T|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCATTTTCTTCATCAGGAT	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													160	163	162					8																	114448977		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.107A>C	8.37:g.114448977T>G	ENSP00000297405:p.Lys36Thr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.K36T	ENST00000297405.5	37	c.107	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	11.20	1.569690	0.28003	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.25414	2.13;1.8;2.13	5.82	4.63	0.57726	.	0.367343	0.19539	N	0.111858	T	0.17492	0.0420	N	0.08118	0	0.26548	N	0.973951	B;P;P;B	0.49783	0.275;0.844;0.928;0.18	B;P;P;B	0.49922	0.221;0.447;0.626;0.11	T	0.06144	-1.0843	10	0.22109	T	0.4	.	8.5911	0.33688	0.0:0.1493:0.0:0.8507	.	36;36;36;36	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	T	36	ENSP00000297405:K36T;ENSP00000412263:K36T;ENSP00000343124:K36T	ENSP00000297405:K36T	K	-	2	0	CSMD3	114518153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	0.983000	0.38602	0.533000	0.62120	AAG	CSMD3	-	NULL	ENSG00000164796		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	76	0	T	NM_052900		114448977	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	G	G	114448977	T	G	114448977	3	3	13	1	0	0	0	0	1	0	0	0	3955	1609	56	4	11362	4	CSMD3	8	114448977	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1130563	114448977	31915045	317	3863											
COL14A1	7373	genome.wustl.edu	37	chr8	121301870	121301870	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacattgttgtcagtgagacTttggtcaaagtggttattga	10	15	11	5	0	2	2	2	2	0	1	2	3	2	2	0	2	0	2	0	2	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:121301870T>G	ENST00000297848.3	+	34	4371	c.4101T>G	c.(4099-4101)acT>acG	p.T1367T	COL14A1_ENST00000247781.3_Silent_p.T1272T|COL14A1_ENST00000309791.4_Silent_p.T1367T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAGTGAGACTTTGGTCAAAG	0.383																																																	0													152	136	141					8																	121301870		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4101T>G	8.37:g.121301870T>G				Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T1367	ENST00000297848.3	37	c.4101	CCDS34938.1	8																																																																																			COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000187955		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	100	0	T	NM_021110		121301870	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	6.84	109	8	SNP	0.394	G	G	121301870	T	G	121301870	2	3	13	1	0	0	0	0	0	0	0	1	3678	1596	56	4		4	COL14A1	8	121301870	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6852893	121301870	25062152	318	3864											
ATAD2	29028	genome.wustl.edu	37	chr8	124333404	124333404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactgaagttttctacctcTtgctccattttctagataaa	11	16	4	10	0	3	2	0	1	3	1	4	2	4	2	2	0	3	2	2	0	6	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:124333404T>C	ENST00000287394.5	-	28	4250	c.4143A>G	c.(4141-4143)caA>caG	p.Q1381Q	ATAD2_ENST00000521903.1_Silent_p.Q699Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1381					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTACCTCTTGCTCCATTT	0.328																																																	0													114	110	111					8																	124333404		2203	4299	6502	SO:0001819	synonymous_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.4143A>G	8.37:g.124333404T>C			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q1381	ENST00000287394.5	37	c.4143	CCDS6343.1	8																																																																																			ATAD2	-	NULL	ENSG00000156802		0.328	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0	62	0	T	NM_014109		124333404	-1			no_errors	ENST00000287394	ensembl	human	known	74_37	silent	7.69	60	5	SNP	1.000	C	C	124333404	T	C	124333404	2	2	13	1	0	0	0	0	0	0	0	1	1072	1606	56	4		4	ATAD2	8	124333404	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3031534	124333404	22030618	319	3865											
ZNF572	137209	genome.wustl.edu	37	chr8	125989136	125989136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttattatccatgagagaaCtcacacgggagagaaaccct	14	9	8	10	1	2	3	1	1	1	2	3	6	3	4	2	1	2	0	2	1	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:125989136C>A	ENST00000319286.5	+	3	780	c.626C>A	c.(625-627)aCt>aAt	p.T209N		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CATGAGAGAACTCACACGGGA	0.458										HNSCC(60;0.17)																																							0													78	81	80					8																	125989136		2203	4300	6503	SO:0001583	missense	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.626C>A	8.37:g.125989136C>A	ENSP00000319305:p.Thr209Asn		A1L4F1|Q8N1Q0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T209N	ENST00000319286.5	37	c.626	CCDS6354.1	8	.	.	.	.	.	.	.	.	.	.	C	15.16	2.752466	0.49362	.	.	ENSG00000180938	ENST00000319286	T	0.01025	5.43	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000107	T	0.03263	0.0095	M	0.73372	2.23	0.24800	N	0.992706	P	0.52692	0.955	P	0.56788	0.806	T	0.18524	-1.0334	10	0.87932	D	0	-11.1876	9.5817	0.39493	0.0:0.908:0.0:0.092	.	209	Q7Z3I7	ZN572_HUMAN	N	209	ENSP00000319305:T209N	ENSP00000319305:T209N	T	+	2	0	ZNF572	126058317	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-0.062000	0.11674	2.709000	0.92574	0.655000	0.94253	ACT	ZNF572	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180938		0.458	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	-	0	35	0	C	NM_152412		125989136	1	tier1	-	no_errors	ENST00000319286	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.990	A	A	125989136	C	A	125989136	3	1	13	1	0	0	0	0	1	0	0	0	18052	565	20	3	632	3	ZNF572	8	125989136	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1655732	125989136	20374886	320	3866											
KCNQ3	3786	genome.wustl.edu	37	chr8	133192504	133192504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagcgcaggcttcgcAgggaggtggccagaacattg	10	5	17	9	2	0	1	0	0	0	1	1	3	0	3	1	5	2	4	1	5	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:133192504A>G	ENST00000388996.4	-	4	1097	c.677T>C	c.(676-678)cTg>cCg	p.L226P	KCNQ3_ENST00000521134.1_Missense_Mutation_p.L106P|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L226P	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	226					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAGGCTTCGCAGGGAGGTGGC	0.592																																																	0													106	93	98					8																	133192504		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.677T>C	8.37:g.133192504A>G	ENSP00000373648:p.Leu226Pro		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L226P	ENST00000388996.4	37	c.677	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	A	14.84	2.656533	0.47467	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98926	-5.24;-5.24;-5.24	5.52	5.52	0.82312	Ion transport (1);	0.129798	0.49305	D	0.000151	D	0.98118	0.9379	M	0.86268	2.805	0.80722	D	1	B;B	0.25235	0.121;0.121	B;B	0.26416	0.069;0.069	D	0.97622	1.0136	10	0.87932	D	0	-13.3018	14.8078	0.69971	1.0:0.0:0.0:0.0	.	226;226	E7ET42;O43525	.;KCNQ3_HUMAN	P	226;106;226;215;105	ENSP00000373648:L226P;ENSP00000429799:L106P;ENSP00000428790:L226P	ENSP00000373648:L226P	L	-	2	0	KCNQ3	133261686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.229000	0.95273	2.109000	0.64355	0.459000	0.35465	CTG	KCNQ3	-	pfam_Ion_trans_dom	ENSG00000184156		0.592	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2		0	30	0	A	NM_004519		133192504	-1			no_errors	ENST00000388996	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G	G	133192504	A	G	133192504	3	3	13	1	0	0	0	0	1	0	0	0	8111	188	7	4	1989	4	KCNQ3	8	133192504	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7203368	133192504	13171518	321	3867											
DENND3	22898	genome.wustl.edu	37	chr8	142148124	142148124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctttctgcctgcaggggGtgtgtgcgtggccactgaac	4	12	14	11	1	2	1	0	1	2	0	3	1	2	1	2	3	4	1	2	3	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:142148124G>T	ENST00000262585.2	+	3	427	c.149G>T	c.(148-150)gGt>gTt	p.G50V	DENND3_ENST00000424248.1_Missense_Mutation_p.G50V|DENND3_ENST00000519811.1_Missense_Mutation_p.G130V|DENND3_ENST00000518347.1_Missense_Mutation_p.G130V	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	50	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGCAGGGGGTGTGTGCGTG	0.552																																																	0													96	74	82					8																	142148124		2203	4300	6503	SO:0001583	missense	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"DENN/MADD domain containing", "WD repeat domain containing"	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.149G>T	8.37:g.142148124G>T	ENSP00000262585:p.Gly50Val		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.G50V	ENST00000262585.2	37	c.149	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309711	0.81247	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.19	5.19	0.71726	uDENN (2);	0.148479	0.64402	D	0.000011	T	0.71937	0.3399	M	0.71581	2.175	0.80722	D	1	D;P;D;P	0.76494	0.986;0.935;0.999;0.725	P;P;D;P	0.67103	0.862;0.739;0.949;0.541	T	0.75684	-0.3232	10	0.87932	D	0	-16.6326	18.7062	0.91639	0.0:0.0:1.0:0.0	.	130;50;130;130	E9PF32;A2RUS2;E5RHH2;E5RIR7	.;DEND3_HUMAN;.;.	V	63;130;50;50;130;130;130	ENSP00000430625:G63V;ENSP00000430695:G130V;ENSP00000262585:G50V;ENSP00000410594:G50V;ENSP00000428714:G130V;ENSP00000429780:G130V;ENSP00000430786:G130V	ENSP00000262585:G50V	G	+	2	0	DENND3	142217306	1.000000	0.71417	0.334000	0.25495	0.879000	0.50718	6.729000	0.74775	2.392000	0.81423	0.585000	0.79938	GGT	DENND3	-	pfam_uDENN_dom,pfscan_uDENN_dom	ENSG00000105339		0.552	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		-	0	79	0	G	NM_014957		142148124	1	tier1	-	no_errors	ENST00000262585	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.992	T	T	142148124	G	T	142148124	3	4	13	1	0	0	0	0	1	0	0	0	4446	1261	44	3	155	3	DENND3	8	142148124	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8955620	142148124	4215898	322	3868											
SLC45A4	57210	genome.wustl.edu	37	chr8	142222452	142222452	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctgacacgttgggataGatcaccaggaatgtggccgt	9	10	12	10	2	2	2	1	1	1	1	3	4	3	4	3	3	0	1	3	3	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:142222452G>C	ENST00000024061.3	-	7	2299	c.1992C>G	c.(1990-1992)atC>atG	p.I664M	SLC45A4_ENST00000517878.1_Missense_Mutation_p.I715M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I657M|SLC45A4_ENST00000519067.1_Missense_Mutation_p.I664M	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGTTGGGATAGATCACCAGGA	0.647																																																	0													51	53	52					8																	142222452		2203	4300	6503	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1992C>G	8.37:g.142222452G>C	ENSP00000024061:p.Ile664Met		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.I715M	ENST00000024061.3	37	c.2145	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690667	0.68271	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.78049	2.395	0.51012	D	0.999902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	D	0.85420	0.1142	10	0.41790	T	0.15	-45.1855	6.2671	0.20932	0.2226:0.0:0.7774:0.0	.	715;664;664	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	664;715;657;664	ENSP00000429059:I664M;ENSP00000428137:I715M;ENSP00000400799:I657M;ENSP00000024061:I664M	ENSP00000024061:I664M	I	-	3	3	SLC45A4	142291634	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.961000	0.40432	2.453000	0.82957	0.655000	0.94253	ATC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.647	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0	68	0	G	XM_050325		142222452	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	C	C	142222452	G	C	142222452	3	2	13	1	0	0	0	0	1	0	0	0	14688	932	33	5	412	5	SLC45A4	8	142222452	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	74328	142222452	4141570	323	3869											
C8orf73	642475	genome.wustl.edu	37	chr8	144654593	144654593	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccctcccccgtcacctGgtggggcccctcaggggctg	2	8	12	19	1	2	0	2	0	0	0	4	0	4	0	7	5	0	1	7	5	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:144654593G>A	ENST00000398882.3	-	1	548	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	NAPRT1_ENST00000460623.1_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|MROH6_ENST00000533679.1_5'Flank	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	98																	CCCGTCACCTGGTGGGGCCCC	0.711																																																	0													9	11	11					8																	144654593		1884	4090	5974	SO:0001587	stop_gained	0			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"maestro heat-like repeat containing"	27814	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 73"	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.292C>T	8.37:g.144654593G>A	ENSP00000381857:p.Gln98*		A8MWB1	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q98*	ENST00000398882.3	37	c.292	CCDS47928.1	8	.	.	.	.	.	.	.	.	.	.	g	33	5.203310	0.95033	.	.	ENSG00000204839	ENST00000398882;ENST00000529971	.	.	.	4.52	3.56	0.40772	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999962	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-9.0147	9.9714	0.41757	0.0:0.2067:0.7933:0.0	.	.	.	.	X	98	.	ENSP00000381857:Q98X	Q	-	1	0	C8orf73	144725736	0.786000	0.28738	0.904000	0.35570	0.384000	0.30261	0.880000	0.28159	2.202000	0.70862	0.558000	0.71614	CAG	MROH6	-	NULL	ENSG00000204839		0.711	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH6	HGNC	protein_coding	OTTHUMT00000382330.3	-	0	150	0	G	NM_001100878		144654593	-1	tier1	-	no_errors	ENST00000398882	ensembl	human	known	74_37	nonsense	56.92	56	74	SNP	0.668	A	A	144654593	G	A	144654593	4	1	13	1	0	0	0	0	0	1	0	0	2442	1357	47	3	1923	3	C8orf73	8	144654593	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2432141	144654593	1709429	324	3870											
EPPK1	83481	genome.wustl.edu	37	chr8	144942164	144942164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatttgtagcaggtacaggCccgtctcggggtcctccaca	7	10	12	12	2	1	1	0	1	1	0	4	1	3	1	3	4	2	3	3	4	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:144942164C>T	ENST00000525985.1	-	2	5329	c.5258G>A	c.(5257-5259)gGc>gAc	p.G1753D				P58107	EPIPL_HUMAN	epiplakin 1	1753						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGTACAGGCCCGTCTCGGG	0.547																																																	0													108	109	109					8																	144942164		1985	4167	6152	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5258G>A	8.37:g.144942164C>T	ENSP00000436337:p.Gly1753Asp		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.G1753D	ENST00000525985.1	37	c.5258		8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094817	0.76870	.	.	ENSG00000227184	ENST00000525985	T	0.73575	-0.76	5.1	5.1	0.69264	.	.	.	.	.	D	0.84660	0.5521	M	0.69358	2.11	0.43628	D	0.996011	D	0.89917	1.0	D	0.91635	0.999	D	0.85280	0.1061	9	0.56958	D	0.05	.	16.0335	0.80603	0.0:1.0:0.0:0.0	.	1753	E9PPU0	.	D	1753	ENSP00000436337:G1753D	ENSP00000436337:G1753D	G	-	2	0	EPPK1	145014152	0.998000	0.40836	0.545000	0.28153	0.459000	0.32528	3.829000	0.55760	2.648000	0.89879	0.585000	0.79938	GGC	EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.547	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	119	0	C	NM_031308		144942164	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	10.58	93	11	SNP	1.000	T	T	144942164	C	T	144942164	3	4	13	1	0	0	0	0	1	0	0	0	5206	739	26	3	2008	3	EPPK1	8	144942164	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	287571	144942164	1421858	325	3871											
PARP10	84875	genome.wustl.edu	37	chr8	145059731	145059731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcccccaccacacgcacCgctcgggcctggggaacccg	7	3	10	21	4	0	0	0	0	0	0	2	1	1	1	7	3	1	2	7	3	1	0	rs147869775		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145059731C>T	ENST00000313028.7	-	4	616	c.522G>A	c.(520-522)gcG>gcA	p.A174A	PARP10_ENST00000525773.1_Silent_p.A186A|PARP10_ENST00000524918.1_Silent_p.A174A|PARP10_ENST00000533665.1_5'UTR	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	174					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACACGCACCGCTCGGGCCT	0.672													C|||	1	0.000199681	0	0	5008	,	,		16931	0.001		0	False		,,,				2504	0																0										0,4406		0,0,2203	45	50	48		522	-8.1	0	8	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PARP10	NM_032789.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		174/1026	145059731	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.522G>A	8.37:g.145059731C>T			Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.A174	ENST00000313028.7	37	c.522	CCDS34960.1	8																																																																																			PARP10	-	NULL	ENSG00000178685		0.672	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	-	0	25	0	C	NM_032789		145059731	-1	tier1	rs147869775	no_errors	ENST00000313028	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.000	T	T	145059731	C	T	145059731	2	4	13	1	0	0	0	0	0	0	0	1	11494	639	23	1		1	PARP10	8	145059731	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	117567	145059731	1304291	326	3872											
GPAA1	8733	genome.wustl.edu	37	chr8	145139755	145139755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgcccgctgtcggcttcTtgctcctggtccttggtctc	2	14	10	15	2	2	0	0	0	2	0	6	0	4	0	3	3	2	3	3	3	0	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145139755T>C	ENST00000355091.4	+	8	1262	c.1141T>C	c.(1141-1143)Ttg>Ctg	p.L381L	GPAA1_ENST00000361036.6_Silent_p.L321L	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	381					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCGGCTTCTTGCTCCTGGT	0.602																																																	0													114	123	120					8																	145139755		2013	4168	6181	SO:0001819	synonymous_variant	0			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1141T>C	8.37:g.145139755T>C			Q9NSS0|Q9UQ31	Silent	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.L381	ENST00000355091.4	37	c.1141	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	ENSG00000197858		0.602	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	-	0	41	0	T	NM_003801		145139755	1	tier1	-	no_errors	ENST00000355091	ensembl	human	known	74_37	silent	40.54	22	15	SNP	1.000	C	C	145139755	T	C	145139755	2	2	13	1	0	0	0	0	0	0	0	1	6613	1606	56	4		4	GPAA1	8	145139755	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	80024	145139755	1224267	327	3873											
LRRC14	9684	genome.wustl.edu	37	chr8	145746747	145746747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctccatcaatgaggagaAgtttgcccgcgtagaagctg	10	8	13	10	2	1	3	1	1	0	2	2	4	2	3	3	2	2	3	3	2	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr8:145746747A>G	ENST00000292524.1	+	4	1513	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	LRRC14_ENST00000529022.1_Missense_Mutation_p.K456R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	456										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AATGAGGAGAAGTTTGCCCGC	0.632																																																	0													43	43	43					8																	145746747		2202	4299	6501	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.1367A>G	8.37:g.145746747A>G	ENSP00000292524:p.Lys456Arg		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.K456R	ENST00000292524.1	37	c.1367	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692985	0.30052	.	.	ENSG00000160959	ENST00000529022;ENST00000292524	T;T	0.01505	4.82;4.82	4.85	2.4	0.29515	.	0.292266	0.33959	N	0.004398	T	0.03095	0.0091	L	0.41236	1.265	0.30405	N	0.779643	D	0.71674	0.998	D	0.66351	0.943	T	0.09357	-1.0678	10	0.02654	T	1	.	5.1437	0.14973	0.7515:0.0:0.0891:0.1594	.	456	Q15048	LRC14_HUMAN	R	456	ENSP00000434768:K456R;ENSP00000292524:K456R	ENSP00000292524:K456R	K	+	2	0	LRRC14	145717555	1.000000	0.71417	0.998000	0.56505	0.011000	0.07611	1.489000	0.35562	0.337000	0.23665	-0.256000	0.11100	AAG	LRRC14	-	NULL	ENSG00000160959		0.632	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1	-	0	36	0	A	NM_014665		145746747	1	tier1	-	no_errors	ENST00000292524	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G	G	145746747	A	G	145746747	3	3	13	1	0	0	0	0	1	0	0	0	9003	72	3	4	1377	4	LRRC14	8	145746747	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	606992	145746747	617275	328	3874											
SMARCA2	6595	genome.wustl.edu	37	chr9	2033024	2033024	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaagggcactggtatgCgaccacctcacccaggcatg	10	6	11	14	1	1	1	1	1	0	0	1	2	1	1	4	3	1	3	4	3	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:2033024C>T	ENST00000382203.1	+	3	507	c.298C>T	c.(298-300)Cga>Tga	p.R100*	SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R100*|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R100*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R100*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	100					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CACTGGTATGCGACCACCTCA	0.502																																																	0													142	117	125					9																	2033024		2203	4300	6503	SO:0001587	stop_gained	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.298C>T	9.37:g.2033024C>T	ENSP00000371638:p.Arg100*		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R100*	ENST00000382203.1	37	c.298	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.243167	0.98722	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6053	14.844	0.70246	0.1437:0.8562:0.0:0.0	.	.	.	.	X	100	.	ENSP00000265773:R100X	R	+	1	2	SMARCA2	2023024	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.062000	0.57492	2.737000	0.93849	0.563000	0.77884	CGA	SMARCA2	-	NULL	ENSG00000080503		0.502	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	-	0	80	0	C	NM_003070		2033024	1	tier1	-	no_errors	ENST00000349721	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T	T	2033024	C	T	2033024	4	4	13	1	0	0	0	0	0	1	0	0	14814	760	27	1	304	1	SMARCA2	9	2033024	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09		2033024	139180407	329	3875											
PDCD1LG2	80380	genome.wustl.edu	37	chr9	5549493	5549493	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggacccctgaaggcctcTaccaggtcaccagtgttctg	8	8	10	15	0	3	1	1	1	2	0	3	2	3	2	6	3	1	1	6	3	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:5549493T>A	ENST00000397747.3	+	4	768	c.520T>A	c.(520-522)Tac>Aac	p.Y174N	PDCD1LG2_ENST00000397745.2_Intron	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	174	Ig-like C2-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGAAGGCCTCTACCAGGTCAC	0.562																																																	0													61	64	63					9																	5549493		2203	4300	6503	SO:0001583	missense	0			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	18731	protein-coding gene	gene with protein product	"B7 dendritic cell molecule"	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.520T>A	9.37:g.5549493T>A	ENSP00000380855:p.Tyr174Asn		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Y174N	ENST00000397747.3	37	c.520	CCDS6465.1	9	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212121	0.79240	.	.	ENSG00000197646	ENST00000397747	T	0.19105	2.17	5.16	5.16	0.70880	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000023	T	0.47875	0.1469	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.52961	-0.8505	10	0.87932	D	0	-8.2368	12.5066	0.55986	0.0:0.0:0.0:1.0	.	163;174;174	Q2LC89;A4GW21;Q9BQ51	.;.;PD1L2_HUMAN	N	174	ENSP00000380855:Y174N	ENSP00000380855:Y174N	Y	+	1	0	PDCD1LG2	5539493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.550000	0.60733	1.956000	0.56807	0.533000	0.62120	TAC	PDCD1LG2	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000197646		0.562	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1LG2	HGNC	protein_coding	OTTHUMT00000051634.1	-	0	112	0	T	NM_025239		5549493	1	tier1	-	no_errors	ENST00000397747	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A	A	5549493	T	A	5549493	3	1	13	1	0	0	0	0	1	0	0	0	11657	1522	53	5	530	5	PDCD1LG2	9	5549493	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3516469	5549493	135663938	330	3876											
PTPRD	5789	genome.wustl.edu	37	chr9	8492870	8492870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgattacctgccccaGtggtggacaccagtttgggc	9	9	12	11	0	0	2	0	1	0	1	0	3	0	3	4	3	2	1	4	3	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:8492870G>A	ENST00000381196.4	-	24	3002	c.2459C>T	c.(2458-2460)aCt>aTt	p.T820I	PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T798I|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.T820I|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.T820I|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.T807I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	820	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACCTGCCCCAGTGGTGGACAC	0.458										TSP Lung(15;0.13)																																							0													224	177	193					9																	8492870		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2459C>T	9.37:g.8492870G>A	ENSP00000370593:p.Thr820Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.T820I	ENST00000381196.4	37	c.2459	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591425	0.46214	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.53423	0.62;0.62;0.62;2.29;0.62	5.41	4.52	0.55395	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.108249	0.64402	D	0.000006	T	0.37598	0.1009	L	0.45698	1.435	0.48632	D	0.999687	P;B;B	0.41643	0.758;0.09;0.059	B;B;B	0.37601	0.254;0.047;0.028	T	0.14896	-1.0456	9	.	.	.	.	9.5573	0.39346	0.0751:0.1425:0.7824:0.0	.	807;820;820	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	820;820;807;798;820	ENSP00000370593:T820I;ENSP00000348812:T820I;ENSP00000353187:T807I;ENSP00000351293:T798I;ENSP00000438164:T820I	.	T	-	2	0	PTPRD	8482870	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	3.692000	0.54727	1.273000	0.44346	0.585000	0.79938	ACT	PTPRD	-	superfamily_Fibronectin_type3	ENSG00000153707		0.458	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	71	0	G			8492870	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A	A	8492870	G	A	8492870	3	1	13	1	0	0	0	0	1	0	0	0	12844	1029	36	3	3427	3	PTPRD	9	8492870	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2943377	8492870	132720561	331	3877											
PTPRD	5789	genome.wustl.edu	37	chr9	8518303	8518303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctttgtaaagttcctcaGagtttttaggtttatgctga	8	20	8	5	0	2	2	1	1	1	1	3	2	3	2	1	1	1	5	1	1	4	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:8518303G>C	ENST00000381196.4	-	18	1631	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C	PTPRD_ENST00000397606.3_Missense_Mutation_p.S353C|PTPRD_ENST00000355233.5_Missense_Mutation_p.S363C|PTPRD_ENST00000358503.5_Missense_Mutation_p.S350C|PTPRD_ENST00000486161.1_Missense_Mutation_p.S363C|PTPRD_ENST00000356435.5_Missense_Mutation_p.S363C|PTPRD_ENST00000397611.3_Missense_Mutation_p.S360C|PTPRD_ENST00000540109.1_Missense_Mutation_p.S363C|PTPRD_ENST00000397617.3_Missense_Mutation_p.S353C|PTPRD_ENST00000537002.1_Missense_Mutation_p.S360C|PTPRD_ENST00000360074.4_Missense_Mutation_p.S350C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	363	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTCCTCAGAGTTTTTAGG	0.468										TSP Lung(15;0.13)																																							0													115	124	121					9																	8518303		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1088C>G	9.37:g.8518303G>C	ENSP00000370593:p.Ser363Cys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.S363C	ENST00000381196.4	37	c.1088	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810064	0.50421	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81273	0.4788	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.967;0.967;0.984;0.984;0.967;0.989;0.999;1.0;0.996	P;D;D;D;P;P;D;D;D	0.91635	0.886;0.926;0.926;0.926;0.77;0.818;0.962;0.999;0.926	D	0.84875	0.0827	9	.	.	.	.	18.7094	0.91651	0.0:0.0:1.0:0.0	.	353;357;363;363;360;360;350;363;363	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	363;363;350;350;363;353;360;360;363;363;363;353	ENSP00000370593:S363C;ENSP00000348812:S363C;ENSP00000353187:S350C;ENSP00000351293:S350C;ENSP00000347373:S363C;ENSP00000380741:S353C;ENSP00000380735:S360C;ENSP00000440515:S360C;ENSP00000438164:S363C;ENSP00000417093:S363C;ENSP00000380731:S353C	.	S	-	2	0	PTPRD	8508303	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	7.578000	0.82498	2.417000	0.82017	0.460000	0.39030	TCT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	32	0	G			8518303	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	C	C	8518303	G	C	8518303	3	2	13	1	0	0	0	0	1	0	0	0	12844	942	33	5	4822	5	PTPRD	9	8518303	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	25433	8518303	132695128	332	3878											
MPDZ	8777	genome.wustl.edu	37	chr9	13219624	13219624	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcagtgggtgctgtacgTtcttctatggcacctcttgc	7	13	11	10	1	3	0	0	0	3	0	3	0	3	0	1	2	4	5	1	2	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:13219624T>G	ENST00000319217.7	-	8	1267	c.1020A>C	c.(1018-1020)gaA>gaC	p.E340D	MPDZ_ENST00000541718.1_Missense_Mutation_p.E340D|MPDZ_ENST00000536827.1_Missense_Mutation_p.E340D|MPDZ_ENST00000381015.4_Missense_Mutation_p.E340D|MPDZ_ENST00000381022.2_Missense_Mutation_p.E340D|MPDZ_ENST00000447879.1_Missense_Mutation_p.E340D|MPDZ_ENST00000546205.1_Missense_Mutation_p.E340D	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	340					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTGCTGTACGTTCTTCTATGG	0.458																																																	0													180	178	178					9																	13219624		2036	4186	6222	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1020A>C	9.37:g.13219624T>G	ENSP00000320006:p.Glu340Asp		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E340D	ENST00000319217.7	37	c.1020		9	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438342	0.43326	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.13307	2.68;2.6;2.6;2.61;2.67;2.68;2.68	5.93	3.63	0.41609	.	0.000000	0.45126	D	0.000396	T	0.09423	0.0232	N	0.08118	0	0.80722	D	1	D;P;D	0.58970	0.965;0.956;0.984	P;P;P	0.51487	0.556;0.671;0.671	T	0.33675	-0.9859	10	0.21540	T	0.41	.	7.6617	0.28407	0.0:0.2639:0.0:0.7361	.	340;340;340	B7ZMI4;O75970-3;O75970-2	.;.;.	D	340	ENSP00000320006:E340D;ENSP00000439807:E340D;ENSP00000370410:E340D;ENSP00000444151:E340D;ENSP00000415208:E340D;ENSP00000370403:E340D;ENSP00000446358:E340D	ENSP00000320006:E340D	E	-	3	2	MPDZ	13209624	0.627000	0.27129	0.840000	0.33206	0.743000	0.42351	0.176000	0.16782	1.085000	0.41206	0.533000	0.62120	GAA	MPDZ	-	NULL	ENSG00000107186		0.458	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	-	0	81	0	T	NM_003829		13219624	-1	tier1	-	no_errors	ENST00000319217	ensembl	human	known	74_37	missense	38.81	41	26	SNP	0.669	G	G	13219624	T	G	13219624	3	3	13	1	0	0	0	0	1	0	0	0	9760	1722	60	4	5261	4	MPDZ	9	13219624	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4701321	13219624	127993807	333	3879											
NFIB	4781	genome.wustl.edu	37	chr9	14125636	14125636	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaactcctcaccactgTgtgcaactccaggtattccg	9	11	7	14	1	1	1	1	1	0	0	4	1	4	1	4	1	3	2	4	1	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:14125636T>A	ENST00000380959.3	-	7	1528	c.1055A>T	c.(1054-1056)cAc>cTc	p.H352L	NFIB_ENST00000397575.3_Missense_Mutation_p.H352L|NFIB_ENST00000397581.2_Missense_Mutation_p.H352L|NFIB_ENST00000543693.1_Missense_Mutation_p.H100L|NFIB_ENST00000397579.2_Missense_Mutation_p.H352L|NFIB_ENST00000380953.1_Missense_Mutation_p.H352L|NFIB_ENST00000380934.4_Missense_Mutation_p.H378L|NFIB_ENST00000380924.1_Missense_Mutation_p.H100L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	352					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CTCACCACTGTGTGCAACTCC	0.507			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"																																Esophageal Squamous(132;921 1730 14828 40753 46471)			Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0													162	153	156					9																	14125636		2203	4300	6503	SO:0001583	missense	0			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1055A>T	9.37:g.14125636T>A	ENSP00000370346:p.His352Leu		G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.H352L	ENST00000380959.3	37	c.1055	CCDS6474.1	9	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749903	0.89753	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000543693;ENST00000380924	T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.7	5.7	0.88788	.	0.046833	0.85682	D	0.000000	T	0.60971	0.2310	L	0.46157	1.445	0.58432	D	0.999998	D;P;D;P	0.58268	0.982;0.911;0.982;0.89	P;B;P;D	0.64237	0.757;0.382;0.757;0.923	T	0.61569	-0.7036	10	0.52906	T	0.07	.	15.9724	0.80031	0.0:0.0:0.0:1.0	.	352;352;352;100	Q5VW27;Q5VW29;O00712;G3V1P1	.;.;NFIB_HUMAN;.	L	378;352;352;352;352;352;100;100	ENSP00000370321:H378L;ENSP00000370346:H352L;ENSP00000370340:H352L;ENSP00000380705:H352L;ENSP00000380711:H352L;ENSP00000380709:H352L;ENSP00000442888:H100L;ENSP00000370311:H100L	ENSP00000370311:H100L	H	-	2	0	NFIB	14115636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.630000	0.67805	2.175000	0.68902	0.477000	0.44152	CAC	NFIB	-	pfam_CTF/NFI	ENSG00000147862		0.507	NFIB-001	KNOWN	basic|CCDS	protein_coding	NFIB	HGNC	protein_coding	OTTHUMT00000055468.1	-	0	146	0	T	NM_005596		14125636	-1	tier1	-	no_errors	ENST00000397581	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	14125636	T	A	14125636	3	1	13	1	0	0	0	0	1	0	0	0	10410	1696	59	5	219	5	NFIB	9	14125636	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	906012	14125636	127087795	334	3880											
CNTLN	54875	genome.wustl.edu	37	chr9	17309171	17309171	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagagcaagaaaatgctaAgttaaaagaaaaacttcagg	23	6	8	4	0	1	3	1	0	0	3	1	3	1	3	0	1	3	3	0	1	10	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:17309171A>C	ENST00000380647.3	+	8	1346	c.1262A>C	c.(1261-1263)aAg>aCg	p.K421T	CNTLN_ENST00000425824.1_Missense_Mutation_p.K421T|CNTLN_ENST00000262360.5_Missense_Mutation_p.K421T			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	421					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAAAATGCTAAGTTAAAAGAA	0.373																																																	0													58	57	58					9																	17309171		1848	4084	5932	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1262A>C	9.37:g.17309171A>C	ENSP00000370021:p.Lys421Thr		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K421T	ENST00000380647.3	37	c.1262	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	23.0	4.359791	0.82353	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.06608	3.28;3.28;3.28	5.66	5.66	0.87406	.	.	.	.	.	T	0.18635	0.0447	M	0.65975	2.015	0.36265	D	0.854806	D;D;D	0.63880	0.976;0.993;0.993	P;P;P	0.55391	0.677;0.775;0.775	T	0.03695	-1.1012	9	0.54805	T	0.06	.	15.8375	0.78811	1.0:0.0:0.0:0.0	.	421;421;421	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	T	421	ENSP00000370021:K421T;ENSP00000392798:K421T;ENSP00000262360:K421T	ENSP00000262360:K421T	K	+	2	0	CNTLN	17299171	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	3.590000	0.53979	2.283000	0.76528	0.477000	0.44152	AAG	CNTLN	-	NULL	ENSG00000044459		0.373	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0	39	0	A	NM_017738		17309171	1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	C	C	17309171	A	C	17309171	3	2	13	1	0	0	0	0	1	0	0	0	3646	72	3	4	1322	4	CNTLN	9	17309171	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3183535	17309171	123904260	335	3881											
KIF24	347240	genome.wustl.edu	37	chr9	34311339	34311339	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacattcatataaccaggaTgccattttggtgaataggtt	13	13	9	6	0	1	2	1	1	0	1	1	3	1	3	2	3	2	1	2	3	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:34311339T>A	ENST00000402558.2	-	1	30	c.6A>T	c.(4-6)gcA>gcT	p.A2A	KIF24_ENST00000345050.2_Silent_p.A2A|KIF24_ENST00000379174.3_Silent_p.A2A|KIF24_ENST00000379166.2_Silent_p.A2A			Q5T7B8	KIF24_HUMAN	kinesin family member 24	2	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			ATAACCAGGATGCCATTTTGG	0.323																																																	0													33	31	32					9																	34311339		1844	4094	5938	SO:0001819	synonymous_variant	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.6A>T	9.37:g.34311339T>A			Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A2	ENST00000402558.2	37	c.6	CCDS6551.2	9																																																																																			KIF24	-	superfamily_SAM/pointed,pfscan_SAM	ENSG00000186638		0.323	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	-	0	82	0	T			34311339	-1	tier1	-	no_errors	ENST00000379166	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.998	A	A	34311339	T	A	34311339	2	1	13	1	0	0	0	0	0	0	0	1	8319	1451	51	5		5	KIF24	9	34311339	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	17002168	34311339	106902092	336	3882											
RGP1	692094	genome.wustl.edu	37	chr9	35752730	35752730	+	IGR	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccccctgtggaacagccCgaacctaccacctggacagg	10	5	9	17	1	0	0	0	0	0	0	0	3	0	2	6	3	5	0	6	3	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:35752730C>A	ENST00000436428.2	-	0	670				RGP1_ENST00000378078.4_Silent_p.P345P|RGP1_ENST00000456972.2_Silent_p.P385P|MSMP_ENST00000414286.1_5'Flank|GBA2_ENST00000545786.1_5'Flank	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated							cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						TGGAACAGCCCGAACCTACCA	0.522																																																	0													70	67	68					9																	35752730		1952	4141	6093	SO:0001628	intergenic_variant	0			DQ012170	CCDS43797.1	9p13.3	2012-10-02			ENSG00000215183	ENSG00000215183			29663	protein-coding gene	gene with protein product		612191				17338636	Standard	NM_001044264		Approved	PC-3, PSMP	uc003zyb.2	Q1L6U9	OTTHUMG00000019882		9.37:g.35752730C>A				Silent	SNP	pfam_Rgp1	p.P385	ENST00000436428.2	37	c.1155	CCDS43797.1	9																																																																																			RGP1	-	NULL	ENSG00000107185		0.522	MSMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000052384.2	-	0	118	0	C	NM_001044264		35752730	1	tier1	-	no_errors	ENST00000456972	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.045	A	A	35752730	C	A	35752730	1	1	13	0	1	0	0	0	0	0	0	0	13329	639	23	2		2	RGP1	9	35752730	IGR	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1441391	35752730	105460701	337	3883											
FAM75A3	727830	genome.wustl.edu	37	chr9	40702808	40702808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctgttagcttccccGgatcctcaagccaagcatcc	7	10	6	18	1	2	0	1	0	1	0	6	1	5	1	6	1	3	3	6	1	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:40702808G>A	ENST00000356699.5	+	4	494	c.465G>A	c.(463-465)ccG>ccA	p.P155P	SPATA31A3_ENST00000463536.1_3'UTR|RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	155	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P155P(2)									TAGCTTCCCCGGATCCTCAAG	0.597																																																	2	Substitution - coding silent(2)	lung(2)											66	78	74					9																	40702808		1946	4119	6065	SO:0001819	synonymous_variant	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.465G>A	9.37:g.40702808G>A				Silent	SNP	NULL	p.P155	ENST00000356699.5	37	c.465	CCDS47969.1	9																																																																																			SPATA31A3	-	NULL	ENSG00000147926		0.597	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1		0	360	0	G	NM_001083124		40702808	1			no_errors	ENST00000356699	ensembl	human	known	74_37	silent	10.98	153	19	SNP	0.000	A	A	40702808	G	A	40702808	2	1	13	1	0	0	0	0	0	0	0	1	5643	1103	39	1		1	FAM75A3	9	40702808	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4950078	40702808	100510623	338	3884											
APBA1	320	genome.wustl.edu	37	chr9	72131501	72131501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccgcaggccgtcgcgtGcgtccagctcgggcgcgtcc	4	5	16	16	8	0	1	0	0	0	1	4	1	2	1	4	2	3	2	4	2	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:72131501G>T	ENST00000265381.4	-	2	848	c.626C>A	c.(625-627)gCa>gAa	p.A209E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	209					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCGTCGCGTGCGTCCAGCTC	0.721																																																	0													18	20	19					9																	72131501		2198	4296	6494	SO:0001583	missense	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.626C>A	9.37:g.72131501G>T	ENSP00000265381:p.Ala209Glu		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.A209E	ENST00000265381.4	37	c.626	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084917	0.36758	.	.	ENSG00000107282	ENST00000265381	T	0.03951	3.75	5.26	3.31	0.37934	.	0.379769	0.28398	N	0.015499	T	0.02727	0.0082	N	0.14661	0.345	0.30445	N	0.775758	B	0.26445	0.149	B	0.25884	0.064	T	0.23368	-1.0190	10	0.29301	T	0.29	.	5.8259	0.18554	0.1926:0.2941:0.5132:0.0	.	209	Q02410	APBA1_HUMAN	E	209	ENSP00000265381:A209E	ENSP00000265381:A209E	A	-	2	0	APBA1	71321321	0.000000	0.05858	1.000000	0.80357	0.889000	0.51656	0.334000	0.19787	2.634000	0.89283	0.561000	0.74099	GCA	APBA1	-	NULL	ENSG00000107282		0.721	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	-	0	27	0	G	NM_001163		72131501	-1	tier1	-	no_errors	ENST00000265381	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.959	T	T	72131501	G	T	72131501	3	4	13	1	0	0	0	0	1	0	0	0	756	1319	46	3	1935	3	APBA1	9	72131501	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	31428693	72131501	69081930	339	3885											
C9orf41	138199	genome.wustl.edu	37	chr9	77631322	77631322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttatccatgtcaaatgtaGatgctggcataatctttcca	12	14	6	9	0	2	1	1	0	1	1	4	1	4	1	2	1	1	3	2	1	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:77631322G>T	ENST00000376834.3	-	3	604	c.452C>A	c.(451-453)tCt>tAt	p.S151Y	C9orf41_ENST00000376837.3_Missense_Mutation_p.S151Y|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	151										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GTCAAATGTAGATGCTGGCAT	0.388																																																	0													177	179	178					9																	77631322		2203	4300	6503	SO:0001583	missense	0			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.452C>A	9.37:g.77631322G>T	ENSP00000366030:p.Ser151Tyr		Q7Z383|Q8N7C5	Missense_Mutation	SNP	pfam_N2227	p.S151Y	ENST00000376834.3	37	c.452	CCDS6649.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280409	0.80692	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153	T;T	0.03831	3.79;3.79	5.75	5.75	0.90469	N2227-like (1);	0.055057	0.85682	D	0.000000	T	0.23926	0.0579	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.00064	-1.2151	10	0.66056	D	0.02	-15.6393	19.9522	0.97203	0.0:0.0:1.0:0.0	.	151	Q8N4J0	CI041_HUMAN	Y	151;151;90	ENSP00000366030:S151Y;ENSP00000396353:S90Y	ENSP00000366030:S151Y	S	-	2	0	C9orf41	76821142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.444000	0.97578	2.725000	0.93324	0.655000	0.94253	TCT	C9orf41	-	pfam_N2227	ENSG00000156017		0.388	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf41	HGNC	protein_coding	OTTHUMT00000052703.1	-	0	66	0	G	NM_152420		77631322	-1	tier1	-	no_errors	ENST00000376834	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	77631322	G	T	77631322	3	4	13	1	0	0	0	0	1	0	0	0	2489	942	33	3	801	3	C9orf41	9	77631322	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5499821	77631322	63582109	340	3886											
RMI1	80010	genome.wustl.edu	37	chr9	86617740	86617741	+	Nonsense_Mutation	DNP	GG	GG	AT																															gcattacaagatgttaatatGgaacaccttgagaatctaaa																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:86617740_86617741GG>AT	ENST00000325875.3	+	3	2171_2172	c.1839_1840GG>AT	c.(1837-1842)atGGaa>atATaa	p.613_614ME>I*		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	613					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGTTAATATGGAACACCTTGA	0.282																																																	0																																										SO:0001587	stop_gained	0			AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"BLM-Associated Polypeptide, 75 kDa"	610404	"chromosome 9 open reading frame 76", "RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	Exception_encountered	9.37:g.86617740_86617741delinsAT	ENSP00000317039:p.M613_E614delinsI*		Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation|Nonsense_Mutation	SNP	pfam_DUF1767	p.M613I|p.E614*	ENST00000325875.3	37	c.1839|c.1840	CCDS6669.1	9																																																																																			RMI1	-	NULL	ENSG00000178966		0.282	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RMI1	HGNC	protein_coding	OTTHUMT00000052870.1	-	0	131	0	G	NM_024945		86617740|86617741	1	tier1	-	no_errors	ENST00000325875	ensembl	human	known	74_37	missense|nonsense	8.00|7.94	114|116	10	SNP	0.183|0.934	A|T	AT	86617741	GG	AT	86617740	4	1	13	1	0	0	0	0	0	1	0	0	13440	1348	47	3	1841	3	RMI1	9	86617740	Nonsense_Mutation	DNP	GG	TCGA-IC-A6RE-01A-11D-A33E-09	8986418	86617740	54595691	341	3887											
TDRD7	23424	genome.wustl.edu	37	chr9	100234625	100234625	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtgaaggtggttgaatctTtaacttgtggaaagatcttt	11	16	11	3	0	2	3	0	2	2	1	2	4	2	4	0	3	1	1	0	3	5	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:100234625T>C	ENST00000355295.4	+	10	2087	c.1792T>C	c.(1792-1794)Tta>Cta	p.L598L	TDRD7_ENST00000422139.2_Silent_p.L524L|TDRD7_ENST00000540902.1_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	598					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GGTTGAATCTTTAACTTGTGG	0.348																																																	0													166	161	163					9																	100234625		2203	4300	6503	SO:0001819	synonymous_variant	0			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1792T>C	9.37:g.100234625T>C			A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L598	ENST00000355295.4	37	c.1792	CCDS6725.1	9																																																																																			TDRD7	-	NULL	ENSG00000196116		0.348	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1	-	0	62	0	T	NM_014290		100234625	1	tier1	-	no_errors	ENST00000355295	ensembl	human	known	74_37	silent	22.47	69	20	SNP	0.024	C	C	100234625	T	C	100234625	2	2	13	1	0	0	0	0	0	0	0	1	15782	1838	64	4		4	TDRD7	9	100234625	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	13616885	100234625	40978806	342	3888											
NR4A3	8013	genome.wustl.edu	37	chr9	102625911	102625911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctctgcagaaagacatgGgttaaaagaaccaaagagag	17	6	10	8	0	1	4	0	0	1	4	2	5	2	4	2	1	2	2	2	1	5	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:102625911G>T	ENST00000395097.2	+	8	2372	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V	NR4A3_ENST00000330847.1_Missense_Mutation_p.G559V	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	548					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAAAGACATGGGTTAAAAGAA	0.453			T	EWSR1	extraskeletal myxoid chondrosarcoma																																			Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	0													74	69	71					9																	102625911		2203	4300	6503	SO:0001583	missense	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.1643G>T	9.37:g.102625911G>T	ENSP00000378531:p.Gly548Val		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G559V	ENST00000395097.2	37	c.1676	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.063406	0.93898	.	.	ENSG00000119508	ENST00000395097;ENST00000330847	T;T	0.60797	0.16;0.16	6.11	6.11	0.99139	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.81786	0.4896	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.83441	0.0043	10	0.87932	D	0	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	559;548	Q92570-3;Q92570	.;NR4A3_HUMAN	V	548;559	ENSP00000378531:G548V;ENSP00000333122:G559V	ENSP00000333122:G559V	G	+	2	0	NR4A3	101665732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.906000	0.99361	0.655000	0.94253	GGG	NR4A3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt	ENSG00000119508		0.453	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1	-	0	41	0	G			102625911	1	tier1	-	no_errors	ENST00000330847	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T	T	102625911	G	T	102625911	3	4	13	1	0	0	0	0	1	0	0	0	10673	1232	43	3	1780	3	NR4A3	9	102625911	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2391286	102625911	38587520	343	3889											
RNF20	56254	genome.wustl.edu	37	chr9	104314938	104314938	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagctaaaagagtcagaaAaagagagagattctgctaag	20	6	11	4	0	2	5	1	0	1	5	2	7	2	5	0	0	2	2	0	0	6	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:104314938A>T	ENST00000389120.3	+	13	1894	c.1804A>T	c.(1804-1806)Aaa>Taa	p.K602*	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	602					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGAGTCAGAAAAAGAGAGAGA	0.418																																																	0													80	86	84					9																	104314938		2203	4300	6503	SO:0001587	stop_gained	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1804A>T	9.37:g.104314938A>T	ENSP00000373772:p.Lys602*		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Nonsense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.K602*	ENST00000389120.3	37	c.1804	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	A	39	7.759646	0.98474	.	.	ENSG00000155827	ENST00000389120	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-23.7928	14.3454	0.66658	1.0:0.0:0.0:0.0	.	.	.	.	X	602	.	ENSP00000373772:K602X	K	+	1	0	RNF20	103354759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.015000	0.70791	2.371000	0.80710	0.533000	0.62120	AAA	RNF20	-	NULL	ENSG00000155827		0.418	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	-	0	44	0	A	NM_019592		104314938	1	tier1	-	no_errors	ENST00000389120	ensembl	human	known	74_37	nonsense	20.31	51	13	SNP	1.000	T	T	104314938	A	T	104314938	4	4	13	1	0	0	0	0	0	1	0	0	13518	15	1	5	1850	5	RNF20	9	104314938	Nonsense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1689027	104314938	36898493	344	3890											
ACTL7A	10881	genome.wustl.edu	37	chr9	111625588	111625588	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaagccatctctcatcaAgtccatgcagctgggcctcc	8	10	7	16	0	4	0	3	0	1	0	7	0	6	0	4	1	3	2	4	1	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:111625588A>T	ENST00000333999.3	+	1	986	c.986A>T	c.(985-987)aAg>aTg	p.K329M		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	329						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTCTCATCAAGTCCATGCAG	0.572																																					Esophageal Squamous(177;1480 3591 17554)												0													137	123	128					9																	111625588		2203	4300	6503	SO:0001583	missense	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.986A>T	9.37:g.111625588A>T	ENSP00000334300:p.Lys329Met		B2RC83|Q5JSV0	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.K329M	ENST00000333999.3	37	c.986	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201602	0.58234	.	.	ENSG00000187003	ENST00000333999	T	0.31247	1.5	5.47	3.13	0.36017	.	0.134135	0.33875	N	0.004480	T	0.35068	0.0919	L	0.31926	0.97	0.34632	D	0.719679	D	0.55172	0.97	P	0.59948	0.866	T	0.48479	-0.9032	10	0.87932	D	0	.	6.5458	0.22404	0.8139:0.0:0.1861:0.0	.	329	Q9Y615	ACL7A_HUMAN	M	329	ENSP00000334300:K329M	ENSP00000334300:K329M	K	+	2	0	ACTL7A	110665409	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.646000	0.46630	1.013000	0.39391	0.533000	0.62120	AAG	ACTL7A	-	pfam_Actin-related,smart_Actin-related	ENSG00000187003		0.572	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	-	0	50	0	A	NM_006687		111625588	1	tier1	-	no_errors	ENST00000333999	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	T	T	111625588	A	T	111625588	3	4	13	1	0	0	0	0	1	0	0	0	200	72	3	5	988	5	ACTL7A	9	111625588	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7310650	111625588	29587843	345	3891											
OR2K2	26248	genome.wustl.edu	37	chr9	114090461	114090461	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttttctgggatgacagcaAgttcaccagcaaagtaggaa	13	9	12	7	0	2	1	1	1	1	0	2	3	2	3	1	3	2	5	1	3	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:114090461A>C	ENST00000374428.1	-	1	339	c.340T>G	c.(340-342)Ttg>Gtg	p.L114V	OR2K2_ENST00000302681.1_Missense_Mutation_p.L85V			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GATGACAGCAAGTTCACCAGC	0.458																																																	0													73	73	73					9																	114090461		2203	4300	6503	SO:0001583	missense	0			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"GPCR / Class A : Olfactory receptors"	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.340T>G	9.37:g.114090461A>C	ENSP00000363550:p.Leu114Val		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L114V	ENST00000374428.1	37	c.340		9	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234612	0.39498	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00408	7.54;7.54	4.58	-0.733	0.11144	GPCR, rhodopsin-like superfamily (1);	0.236269	0.21783	U	0.069169	T	0.00300	0.0009	M	0.69358	2.11	0.31038	N	0.716672	P	0.45827	0.867	B	0.36244	0.22	T	0.52388	-0.8582	10	0.87932	D	0	.	4.2188	0.10547	0.6044:0.0:0.2538:0.1418	.	114	Q8NGT1	OR2K2_HUMAN	V	85;114	ENSP00000305055:L85V;ENSP00000363550:L114V	ENSP00000305055:L85V	L	-	1	2	OR2K2	113130282	0.000000	0.05858	0.995000	0.50966	0.990000	0.78478	-0.277000	0.08502	-0.196000	0.10366	0.482000	0.46254	TTG	OR2K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171133		0.458	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		-	0	23	0	A	NM_205859		114090461	-1	tier1	-	no_errors	ENST00000374428	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.982	C	C	114090461	A	C	114090461	3	2	13	1	0	0	0	0	1	0	0	0	11044	69	3	4	700	4	OR2K2	9	114090461	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2464873	114090461	27122970	346	3892											
SLC31A2	1318	genome.wustl.edu	37	chr9	115923847	115923847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactgtatgaaggcatcaaGgttggcaaagccaagctgct	12	9	12	8	0	1	1	1	1	0	0	1	1	1	1	1	3	4	7	1	3	6	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:115923847G>T	ENST00000259392.3	+	3	265	c.132G>T	c.(130-132)aaG>aaT	p.K44N		NM_001860.2	NP_001851.1	O15432	COPT2_HUMAN	solute carrier family 31 (copper transporter), member 2	44					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|regulation of copper ion transmembrane transport (GO:1902311)	integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|recycling endosome (GO:0055037)	copper ion transmembrane transporter activity (GO:0005375)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	7					Carboplatin(DB00958)|Cisplatin(DB00515)	AAGGCATCAAGGTTGGCAAAG	0.582																																																	0													196	198	197					9																	115923847		2178	4272	6450	SO:0001583	missense	0				CCDS6788.1	9q32	2013-07-17	2013-07-17		ENSG00000136867	ENSG00000136867		"Solute carriers"	11017	protein-coding gene	gene with protein product	"copper transporter 2"	603088		COPT2		9207117	Standard	NM_001860		Approved	hCTR2, CTR2	uc004bgq.3	O15432	OTTHUMG00000021037	ENST00000259392.3:c.132G>T	9.37:g.115923847G>T	ENSP00000259392:p.Lys44Asn			Missense_Mutation	SNP	pfam_Cop_transporter	p.K44N	ENST00000259392.3	37	c.132	CCDS6788.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055684	0.75960	.	.	ENSG00000136867	ENST00000259392	T	0.79454	-1.27	5.46	3.38	0.38709	.	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86707	0.1933	10	0.87932	D	0	-8.5387	5.3376	0.15967	0.2803:0.0:0.7197:0.0	.	44;44	B4DIE0;O15432	.;COPT2_HUMAN	N	44	ENSP00000259392:K44N	ENSP00000259392:K44N	K	+	3	2	SLC31A2	114963668	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.611000	0.36879	1.311000	0.45024	0.655000	0.94253	AAG	SLC31A2	-	pfam_Cop_transporter	ENSG00000136867		0.582	SLC31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC31A2	HGNC	protein_coding	OTTHUMT00000055509.2	-	0	66	0	G	NM_001860		115923847	1	tier1	-	no_errors	ENST00000259392	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	T	T	115923847	G	T	115923847	3	4	13	1	0	0	0	0	1	0	0	0	14609	991	35	3	142	3	SLC31A2	9	115923847	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1833386	115923847	25289584	347	3893											
RGS3	5998	genome.wustl.edu	37	chr9	116269826	116269826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccgaggtggccaagcgcGggggccagcacaccctgcct	8	3	14	16	3	0	0	0	0	0	0	0	1	0	0	5	4	3	1	5	4	1	0	rs547398918		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:116269826G>T	ENST00000374140.2	+	14	1554	c.1345G>T	c.(1345-1347)Ggg>Tgg	p.G449W	RGS3_ENST00000343817.5_Missense_Mutation_p.G168W|RGS3_ENST00000374136.1_Missense_Mutation_p.G75W|RGS3_ENST00000394646.3_Missense_Mutation_p.G168W|RGS3_ENST00000317613.6_Missense_Mutation_p.G337W|RGS3_ENST00000350696.5_Missense_Mutation_p.G449W	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	449					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G449W(1)|p.G345W(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCCAAGCGCGGGGGCCAGCA	0.687																																																	2	Substitution - Missense(2)	lung(2)											20	19	19					9																	116269826		2195	4294	6489	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1345G>T	9.37:g.116269826G>T	ENSP00000363255:p.Gly449Trp		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G449W	ENST00000374140.2	37	c.1345	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913468	0.52439	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.64260	0.88;0.88;1.23;0.38;-0.09	4.28	2.41	0.29592	.	0.690653	0.15076	N	0.281908	T	0.60366	0.2263	N	0.19112	0.55	0.32881	D	0.510582	P;D;D;D;D;D	0.76494	0.947;0.999;0.996;0.997;0.994;0.999	B;D;D;D;P;D	0.67231	0.443;0.95;0.942;0.913;0.887;0.948	T	0.65590	-0.6131	10	0.87932	D	0	.	6.0578	0.19820	0.2324:0.0:0.7676:0.0	.	168;75;168;339;337;449	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	W	449;449;337;168;168;75	ENSP00000363255:G449W;ENSP00000259406:G449W;ENSP00000312844:G337W;ENSP00000340284:G168W;ENSP00000378141:G168W	ENSP00000312844:G337W	G	+	1	0	RGS3	115309647	0.413000	0.25400	0.034000	0.17996	0.896000	0.52359	1.191000	0.32138	0.731000	0.32448	0.655000	0.94253	GGG	RGS3	-	NULL	ENSG00000138835		0.687	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3		0	64	0	G	NM_017790		116269826	1			no_errors	ENST00000350696	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.142	T	T	116269826	G	T	116269826	3	4	13	1	0	0	0	0	1	0	0	0	13351	1116	39	2	1536	2	RGS3	9	116269826	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	345979	116269826	24943605	348	3894											
AKNA	80709	genome.wustl.edu	37	chr9	117104335	117104335	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctctgggggagacccaacTtgaccacacaggggacactg	10	5	13	13	0	1	2	0	1	1	1	1	4	1	3	3	4	1	0	3	4	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:117104335T>A	ENST00000307564.4	-	20	3989	c.3828A>T	c.(3826-3828)caA>caT	p.Q1276H	AKNA_ENST00000374088.3_Missense_Mutation_p.Q1276H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.Q736H|AKNA_ENST00000374079.4_Missense_Mutation_p.Q221H|AKNA_ENST00000374075.5_Missense_Mutation_p.Q1195H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1276					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAGACCCAACTTGACCACACA	0.582																																																	0													75	72	73					9																	117104335		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3828A>T	9.37:g.117104335T>A	ENSP00000303769:p.Gln1276His		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.Q1276H	ENST00000307564.4	37	c.3828	CCDS6805.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.01|12.01	1.810130|1.810130	0.32053|0.32053	.|.	.|.	ENSG00000106948|ENSG00000106948	ENST00000320310|ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	.|T;T;T;T;T	.|0.18960	.|2.65;2.18;2.65;2.43;2.65	4.95|4.95	-3.7|-3.7	0.04437|0.04437	.|.	.|2.361950	.|0.01411	.|N	.|0.014007	T|T	0.14743|0.14743	0.0356|0.0356	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.23154|0.23154	-1.0196|-1.0196	6|10	0.62326|0.44086	D|T	0.03|0.13	1.0381|1.0381	1.9853|1.9853	0.03435|0.03435	0.1531:0.3907:0.1572:0.299|0.1531:0.3907:0.1572:0.299	.|.	.|1276;1195	.|Q7Z591;Q7Z591-2	.|AKNA_HUMAN;.	M|H	287|1276;221;1276;736;1195	.|ENSP00000303769:Q1276H;ENSP00000363192:Q221H;ENSP00000363201:Q1276H;ENSP00000223791:Q736H;ENSP00000363188:Q1195H	ENSP00000314538:K287M|ENSP00000223791:Q736H	K|Q	-|-	2|3	0|2	AKNA|AKNA	116144156|116144156	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.093000|0.093000	0.18481|0.18481	-0.063000|-0.063000	0.11655|0.11655	-0.400000|-0.400000	0.07656|0.07656	-0.371000|-0.371000	0.07208|0.07208	AAG|CAA	AKNA	-	NULL	ENSG00000106948		0.582	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2		0	67	0	T	NM_030767		117104335	-1			no_errors	ENST00000307564	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.000	A	A	117104335	T	A	117104335	3	1	13	1	0	0	0	0	1	0	0	0	463	1606	56	5	503	5	AKNA	9	117104335	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	834509	117104335	24109096	349	3895											
RC3H2	54542	genome.wustl.edu	37	chr9	125659575	125659575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgggctccaactaactGgagaagtgcgaagttgacag	12	8	12	9	1	0	2	0	1	0	1	1	4	1	2	2	2	4	2	2	2	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:125659575G>T	ENST00000373670.1	-	1	814	c.214C>A	c.(214-216)Cag>Aag	p.Q72K	RC3H2_ENST00000357244.2_Missense_Mutation_p.Q72K|RC3H2_ENST00000423239.2_Missense_Mutation_p.Q72K|RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000471874.2_Missense_Mutation_p.Q72K|RC3H2_ENST00000335387.5_Missense_Mutation_p.Q72K|RC3H2_ENST00000373665.2_Missense_Mutation_p.Q72K			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	72					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCAACTAACTGGAGAAGTGCG	0.403																																																	0													69	65	66					9																	125659575		1897	4123	6020	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.214C>A	9.37:g.125659575G>T	ENSP00000362774:p.Gln72Lys		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.Q72K	ENST00000373670.1	37	c.214	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276268	0.80580	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45	6.17	5.27	0.74061	.	0.061025	0.64402	N	0.000002	D	0.90655	0.7069	L	0.28458	0.855	0.54753	D	0.999986	B;B;B;B	0.31227	0.103;0.001;0.314;0.002	B;B;B;B	0.30855	0.023;0.001;0.121;0.003	D	0.88771	0.3264	10	0.41790	T	0.15	-8.3199	16.1728	0.81831	0.0:0.0:0.8659:0.1341	.	72;72;72;72	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	K	72	ENSP00000362774:Q72K;ENSP00000349783:Q72K;ENSP00000411767:Q72K;ENSP00000362769:Q72K;ENSP00000335150:Q72K	ENSP00000335150:Q72K	Q	-	1	0	RC3H2	124699396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	1.610000	0.50200	0.655000	0.94253	CAG	RC3H2	-	NULL	ENSG00000056586		0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1		0	72	0	G	NM_018835		125659575	-1			no_errors	ENST00000357244	ensembl	human	known	74_37	missense	5.71	65	4	SNP	1.000	T	T	125659575	G	T	125659575	3	4	13	1	0	0	0	0	1	0	0	0	13212	1357	47	3	3519	3	RC3H2	9	125659575	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8555240	125659575	15553856	350	3896											
SET	6418	genome.wustl.edu	37	chr9	131455203	131455203	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctccaaagaatttcatctGaatgagagtggtgatccatc	12	12	8	9	0	3	4	1	3	2	2	6	5	4	4	2	1	0	0	2	1	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131455203G>C	ENST00000372692.4	+	5	715	c.474G>C	c.(472-474)ctG>ctC	p.L158L	SET_ENST00000372688.4_Silent_p.L134L|SET_ENST00000409104.3_Silent_p.L136L|SET_ENST00000322030.8_Silent_p.L145L|SET_ENST00000477806.1_3'UTR	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	158	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AATTTCATCTGAATGAGAGTG	0.313			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0													39	41	40					9																	131455203		2198	4296	6494	SO:0001819	synonymous_variant	0			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.474G>C	9.37:g.131455203G>C			A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Silent	SNP	pfam_NAP_family	p.L158	ENST00000372692.4	37	c.474	CCDS48037.1	9																																																																																			SET	-	pfam_NAP_family	ENSG00000119335		0.313	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	-	0	44	0	G	NM_001122821		131455203	1	tier1	-	no_errors	ENST00000372692	ensembl	human	known	74_37	silent	15.52	49	9	SNP	1.000	C	C	131455203	G	C	131455203	2	2	13	1	0	0	0	0	0	0	0	1	14173	1277	45	5		5	SET	9	131455203	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5795628	131455203	9758228	351	3897											
LRRC8A	56262	genome.wustl.edu	37	chr9	131669999	131669999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagagcgaccccaagccgGccttcagcaagatgaatggg	12	4	14	11	2	1	3	1	1	0	2	1	5	1	3	4	3	3	1	4	3	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131669999G>T	ENST00000259324.5	+	3	1079	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A186S|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A186S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	186					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CCCCAAGCCGGCCTTCAGCAA	0.602																																																	0													37	33	34					9																	131669999		2203	4300	6503	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.556G>T	9.37:g.131669999G>T	ENSP00000259324:p.Ala186Ser		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A186S	ENST00000259324.5	37	c.556	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	1.452	-0.564646	0.03939	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.27557	1.66;1.66;1.66	5.01	3.15	0.36227	.	0.571293	0.20425	N	0.092588	T	0.14442	0.0349	N	0.14661	0.345	0.40742	D	0.982845	B	0.18013	0.025	B	0.16289	0.015	T	0.07290	-1.0780	10	0.08179	T	0.78	.	8.3716	0.32419	0.2453:0.0:0.7547:0.0	.	186	Q8IWT6	LRC8A_HUMAN	S	186	ENSP00000361682:A186S;ENSP00000361680:A186S;ENSP00000259324:A186S	ENSP00000259324:A186S	A	+	1	0	LRRC8A	130709820	0.995000	0.38212	0.991000	0.47740	0.995000	0.86356	2.229000	0.42990	1.120000	0.41904	0.563000	0.77884	GCC	LRRC8A	-	NULL	ENSG00000136802		0.602	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2		0	37	0	G	NM_019594		131669999	1			no_errors	ENST00000259324	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.906	T	T	131669999	G	T	131669999	3	4	13	1	0	0	0	0	1	0	0	0	9056	1203	42	3	558	3	LRRC8A	9	131669999	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	214796	131669999	9543432	352	3898											
DOLK	22845	genome.wustl.edu	37	chr9	131709253	131709253	+	Silent	SNP	A	A	G																															gtggctgccaccacaatgccAaaacgctcaaagaacgggtt																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131709253A>G	ENST00000372586.3	-	1	645	c.330T>C	c.(328-330)ttT>ttC	p.F110F	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	110					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCACAATGCCAAAACGCTCAA	0.567																																																	0													49	50	50					9																	131709253		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.330T>C	9.37:g.131709253A>G			Q5SRE6	Silent	SNP	NULL	p.F110	ENST00000372586.3	37	c.330	CCDS6915.1	9																																																																																			DOLK	-	NULL	ENSG00000175283		0.567	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	-	0	83	0	A	NM_014908		131709253	-1	tier1	-	no_errors	ENST00000372586	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.998	G	G	131709253	A	G	131709253	2	3	13	1	0	0	0	0	0	0	0	1	4717	127	5	4		4	DOLK	9	131709253	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	39254	131709253	9504178	353	3899	12	2									
DOLK	22845	genome.wustl.edu	37	chr9	131709261	131709261	+	Missense_Mutation	SNP	C	C	G																															caccacaatgccaaaacgctCaaagaacgggttcccagcag																								rs543246484		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:131709261C>G	ENST00000372586.3	-	1	637	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	NUP188_ENST00000372577.2_5'Flank|RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	108					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|dolichyl monophosphate biosynthetic process (GO:0043048)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	dolichol kinase activity (GO:0004168)			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CCAAAACGCTCAAAGAACGGG	0.572																																																	0													51	51	51					9																	131709261		2203	4300	6503	SO:0001583	missense	0			AB029017	CCDS6915.1	9q34.13	2014-09-17	2007-02-09	2007-02-09	ENSG00000175283	ENSG00000175283			23406	protein-coding gene	gene with protein product	"dolichol kinase 1"	610746	"transmembrane protein 15"	TMEM15		12975309, 16923818	Standard	NM_014908		Approved	KIAA1094, DK1	uc004bwr.3	Q9UPQ8	OTTHUMG00000020765	ENST00000372586.3:c.322G>C	9.37:g.131709261C>G	ENSP00000361667:p.Glu108Gln		Q5SRE6	Missense_Mutation	SNP	NULL	p.E108Q	ENST00000372586.3	37	c.322	CCDS6915.1	9	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582778	0.86748	.	.	ENSG00000175283	ENST00000372586;ENST00000515348	D	0.84589	-1.87	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	D	0.90103	0.6908	L	0.42245	1.32	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.90501	0.4474	10	0.66056	D	0.02	-0.7889	18.7019	0.91623	0.0:1.0:0.0:0.0	.	108	Q9UPQ8	DOLK_HUMAN	Q	108	ENSP00000361667:E108Q	ENSP00000361667:E108Q	E	-	1	0	DOLK	130749082	1.000000	0.71417	0.996000	0.52242	0.877000	0.50540	7.487000	0.81328	2.655000	0.90218	0.462000	0.41574	GAG	DOLK	-	NULL	ENSG00000175283		0.572	DOLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOLK	HGNC	protein_coding	OTTHUMT00000054515.1	-	0	108	0	C	NM_014908		131709261	-1	tier1	-	no_errors	ENST00000372586	ensembl	human	known	74_37	missense	13.24	59	9	SNP	1.000	G	G	131709261	C	G	131709261	3	3	13	1	0	0	0	0	1	0	0	0	4717	835	29	5	1298	5	DOLK	9	131709261	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	8	131709261	9504170	354	3900	12	2									
SETX	23064	genome.wustl.edu	37	chr9	135204547	135204547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagatacagtcaaatttTcatctaaattgatagtatta	15	17	5	4	0	3	2	2	1	1	1	3	2	3	2	0	0	1	2	0	0	8	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:135204547T>C	ENST00000224140.5	-	10	2620	c.2438A>G	c.(2437-2439)gAa>gGa	p.E813G	SETX_ENST00000372169.2_Missense_Mutation_p.E813G|SETX_ENST00000393220.1_Missense_Mutation_p.E813G	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	813					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTCAAATTTTCATCTAAATT	0.333																																																	0													72	67	69					9																	135204547		2202	4300	6502	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2438A>G	9.37:g.135204547T>C	ENSP00000224140:p.Glu813Gly		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.E813G	ENST00000224140.5	37	c.2438	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	7.582	0.668952	0.14776	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.87103	-2.12;-2.21;-1.82	5.73	2.07	0.26955	.	1.605110	0.03546	N	0.224698	T	0.80602	0.4654	L	0.29908	0.895	0.22468	N	0.999076	B;B;B	0.14012	0.009;0.002;0.009	B;B;B	0.15484	0.013;0.004;0.013	T	0.65261	-0.6211	10	0.62326	D	0.03	.	4.161	0.10284	0.0:0.2259:0.2361:0.538	.	813;813;813	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	G	813	ENSP00000224140:E813G;ENSP00000361242:E813G;ENSP00000376913:E813G	ENSP00000224140:E813G	E	-	2	0	SETX	134194368	0.103000	0.21917	0.633000	0.29310	0.072000	0.16883	-0.016000	0.12613	0.414000	0.25790	0.533000	0.62120	GAA	SETX	-	NULL	ENSG00000107290		0.333	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0	21	0	T	NM_015046		135204547	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.569	C	C	135204547	T	C	135204547	3	2	13	1	0	0	0	0	1	0	0	0	14186	1783	62	4	5663	4	SETX	9	135204547	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3495286	135204547	6008884	355	3901											
VAV2	7410	genome.wustl.edu	37	chr9	136662837	136662837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaggacttacctcgaCtttctgcctgaagtcctccc	6	11	8	16	1	1	1	0	1	1	0	4	3	3	2	5	2	2	1	5	2	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:136662837C>T	ENST00000371850.3	-	10	962	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	VAV2_ENST00000371851.1_Missense_Mutation_p.V306I|VAV2_ENST00000406606.3_Missense_Mutation_p.V306I	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	311	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTACCTCGACTTTCTGCCTG	0.607																																																	0													100	83	89					9																	136662837		2203	4300	6503	SO:0001583	missense	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.931G>A	9.37:g.136662837C>T	ENSP00000360916:p.Val311Ile		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.V311I	ENST00000371850.3	37	c.931	CCDS48053.1	9	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619580	0.66787	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.62498	0.02;0.02;0.02	4.01	4.01	0.46588	Dbl homology (DH) domain (5);	0.065541	0.64402	D	0.000010	T	0.48642	0.1511	N	0.12527	0.23	0.58432	D	0.999999	P;B	0.47604	0.898;0.049	P;B	0.48454	0.578;0.037	T	0.41910	-0.9482	10	0.22109	T	0.4	.	12.4078	0.55449	0.0:0.8303:0.1697:0.0	.	311;306	P52735;P52735-3	VAV2_HUMAN;.	I	311;306;306;306	ENSP00000360916:V311I;ENSP00000360917:V306I;ENSP00000385362:V306I	ENSP00000317258:V306I	V	-	1	0	VAV2	135652658	1.000000	0.71417	0.989000	0.46669	0.455000	0.32408	5.309000	0.65774	1.943000	0.56356	0.563000	0.77884	GTC	VAV2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000160293		0.607	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	-	0	50	0	C			136662837	-1	tier1	-	no_errors	ENST00000371850	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T	T	136662837	C	T	136662837	3	4	13	1	0	0	0	0	1	0	0	0	17181	565	20	3	1789	3	VAV2	9	136662837	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1458290	136662837	4550594	356	3902											
OLFM1	10439	genome.wustl.edu	37	chr9	138011558	138011558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagacagagaccatccTcaagacccgcagcctggact	12	5	9	15	1	1	4	1	1	0	3	2	6	2	5	5	1	1	1	5	1	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr9:138011558T>A	ENST00000371793.3	+	6	1243	c.992T>A	c.(991-993)cTc>cAc	p.L331H	OLFM1_ENST00000252854.4_Missense_Mutation_p.L313H|OLFM1_ENST00000371796.3_Missense_Mutation_p.L304H	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	331	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GAGACCATCCTCAAGACCCGC	0.562																																																	0													103	88	93					9																	138011558		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.992T>A	9.37:g.138011558T>A	ENSP00000360858:p.Leu331His		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.L331H	ENST00000371793.3	37	c.992		9	.	.	.	.	.	.	.	.	.	.	T	18.37	3.608226	0.66558	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90955	-2.76;-2.76;-2.76	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.110120	0.64402	D	0.000008	D	0.93321	0.7871	L	0.55990	1.75	0.51767	D	0.99993	D;D	0.62365	0.97;0.991	P;D	0.66979	0.739;0.948	D	0.93282	0.6661	10	0.48119	T	0.1	.	14.8166	0.70039	0.0:0.0:0.0:1.0	.	331;313	Q99784;Q6IMJ8	NOE1_HUMAN;.	H	313;304;331	ENSP00000252854:L313H;ENSP00000360861:L304H;ENSP00000360858:L331H	ENSP00000252854:L313H	L	+	2	0	OLFM1	137151379	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.012000	0.64017	1.909000	0.55274	0.459000	0.35465	CTC	OLFM1	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.562	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0	41	0	T	NM_014279		138011558	1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	A	A	138011558	T	A	138011558	3	1	13	1	0	0	0	0	1	0	0	0	10891	1551	54	5	970	5	OLFM1	9	138011558	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1348721	138011558	3201873	357	3903											
AKR1C4	1109	genome.wustl.edu	37	chr10	5255027	5255027	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcaaagaaacacaaacaaAccccagccctgattgccctg	16	5	6	14	0	0	2	0	1	0	1	0	2	0	2	4	0	6	1	4	0	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:5255027A>C	ENST00000380448.1	+	9	1004	c.751A>C	c.(751-753)Acc>Ccc	p.T251P	AKR1C4_ENST00000263126.1_Missense_Mutation_p.T251P			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	251					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						ACACAAACAAACCCCAGCCCT	0.537																																																	0													69	65	66					10																	5255027		2203	4300	6503	SO:0001583	missense	0			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"Aldo-keto reductases"	387	protein-coding gene	gene with protein product	"chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"	600451	"aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.751A>C	10.37:g.5255027A>C	ENSP00000369814:p.Thr251Pro		Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.T251P	ENST00000380448.1	37	c.751	CCDS7064.1	10	.	.	.	.	.	.	.	.	.	.	A	8.306	0.820910	0.16678	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.56776	0.44;0.44	3.3	0.665	0.17896	NADP-dependent oxidoreductase domain (3);	0.279277	0.29321	N	0.012487	T	0.66655	0.2811	M	0.68593	2.085	0.24433	N	0.994562	P	0.36683	0.565	P	0.61201	0.885	T	0.63576	-0.6606	10	0.87932	D	0	.	8.2893	0.31948	0.6959:0.0:0.0:0.3041	.	251	P17516	AK1C4_HUMAN	P	251	ENSP00000369814:T251P;ENSP00000263126:T251P	ENSP00000263126:T251P	T	+	1	0	AKR1C4	5245027	0.001000	0.12720	0.009000	0.14445	0.027000	0.11550	1.671000	0.37513	-0.761000	0.04670	-2.559000	0.00174	ACC	AKR1C4	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000198610		0.537	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C4	HGNC	protein_coding	OTTHUMT00000046543.2	-	0	92	0	A	NM_001818		5255027	1	tier1	-	no_errors	ENST00000263126	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.465	C	C	5255027	A	C	5255027	3	2	13	1	0	0	0	0	1	0	0	0	472	43	2	4	777	4	AKR1C4	10	5255027	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09		5255027	130279720	358	3904											
TAF3	83860	genome.wustl.edu	37	chr10	8005880	8005881	+	Intron	INS	-	-	AGA																															ttcctttttcttcctttaccINSagaagaagaagaagagcagg																								rs553036847		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:8005880_8005881insAGA	ENST00000344293.5	+	3	615					NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa						maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCTTTACCAGAAGAAGAAG	0.351																																																	0																																										SO:0001627	intron_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.410-2->AGA	10.37:g.8005887_8005889dupAGA			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Splice_Site	INS	-	e3-2	ENST00000344293.5	37	c.410-3_410-2	CCDS41487.1	10																																																																																			TAF3	-	-	ENSG00000165632		0.351	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1		0	29	0	-	NM_031923		8005881	1	tier1		no_errors	ENST00000344293	ensembl	human	known	74_37	splice_site_ins	15.38	22	4	INS	0.602:1.000	AGA	AGA	8005881	-	AGA	8005880	6	5	13	0	1	1	1	0	0	0	0	0	15572	609	21	0		0	TAF3	10	8005880	Intron	INS	-	TCGA-IC-A6RE-01A-11D-A33E-09	2750853	8005880	127528867	359	3905											
OPTN	10133	genome.wustl.edu	37	chr10	13161018	13161018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtggagagacttgaagttGcactcaaggaggccaaagaa	15	6	14	6	0	1	3	1	1	0	2	1	6	1	5	1	4	1	2	1	4	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:13161018G>A	ENST00000378748.3	+	8	1119	c.757G>A	c.(757-759)Gca>Aca	p.A253T	OPTN_ENST00000378757.2_Missense_Mutation_p.A253T|OPTN_ENST00000263036.5_Missense_Mutation_p.A253T|OPTN_ENST00000378747.3_Missense_Mutation_p.A253T|OPTN_ENST00000378752.3_Missense_Mutation_p.A247T|OPTN_ENST00000378764.2_Missense_Mutation_p.A247T	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	253					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACTTGAAGTTGCACTCAAGGA	0.408																																																	0													92	89	90					10																	13161018		2203	4300	6503	SO:0001583	missense	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.757G>A	10.37:g.13161018G>A	ENSP00000368022:p.Ala253Thr		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.A253T	ENST00000378748.3	37	c.757	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885348	0.33255	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.86562	-2.13;-2.14;-2.13;-2.14;-2.13;-2.13	6.16	5.25	0.73442	.	0.246803	0.46758	D	0.000266	D	0.83866	0.5347	L	0.55481	1.735	0.09310	N	0.999999	B;B	0.15930	0.01;0.015	B;B	0.17098	0.017;0.008	T	0.67684	-0.5607	10	0.15499	T	0.54	-9.0011	15.7668	0.78131	0.0:0.0:0.8625:0.1375	.	247;253	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	T	253;247;253;247;253;253	ENSP00000263036:A253T;ENSP00000368040:A247T;ENSP00000368032:A253T;ENSP00000368027:A247T;ENSP00000368022:A253T;ENSP00000368021:A253T	ENSP00000263036:A253T	A	+	1	0	OPTN	13201024	0.715000	0.27946	0.292000	0.24919	0.838000	0.47535	3.800000	0.55537	1.579000	0.49836	0.650000	0.86243	GCA	OPTN	-	NULL	ENSG00000123240		0.408	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	-	0	78	0	G	NM_021980		13161018	1	tier1	-	no_errors	ENST00000263036	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.222	A	A	13161018	G	A	13161018	3	1	13	1	0	0	0	0	1	0	0	0	10928	1319	46	3	775	3	OPTN	10	13161018	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5155138	13161018	122373729	360	3906											
CUBN	8029	genome.wustl.edu	37	chr10	16970209	16970209	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacactggagtccgaggtgAagcggatgaacatgtactct	11	10	12	8	2	1	2	0	2	1	0	2	5	2	4	1	3	4	1	1	3	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:16970209A>T	ENST00000377833.4	-	41	6283	c.6218T>A	c.(6217-6219)tTc>tAc	p.F2073Y		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2073	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCGAGGTGAAGCGGATGAA	0.473																																																	0													87	81	83					10																	16970209		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6218T>A	10.37:g.16970209A>T	ENSP00000367064:p.Phe2073Tyr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.F2073Y	ENST00000377833.4	37	c.6218	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	A	27.4	4.827895	0.90955	.	.	ENSG00000107611	ENST00000377833	T	0.30182	1.54	5.71	5.71	0.89125	CUB (5);	0.000000	0.46442	D	0.000290	T	0.64349	0.2590	M	0.92367	3.3	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.73997	-0.3806	10	0.66056	D	0.02	.	15.9822	0.80121	1.0:0.0:0.0:0.0	.	2073	O60494	CUBN_HUMAN	Y	2073	ENSP00000367064:F2073Y	ENSP00000367064:F2073Y	F	-	2	0	CUBN	17010215	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.451000	0.90343	2.186000	0.69663	0.533000	0.62120	TTC	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	76	0	A	NM_001081		16970209	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	16970209	A	T	16970209	3	4	13	1	0	0	0	0	1	0	0	0	4060	246	9	5	4761	5	CUBN	10	16970209	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3809191	16970209	118564538	361	3907											
CUBN	8029	genome.wustl.edu	37	chr10	17171223	17171223	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accccgtaagaaacaccaaaTttcctctctctgtagccatt	12	11	4	14	1	2	1	0	0	2	1	4	1	3	1	5	0	2	2	5	0	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:17171223T>G	ENST00000377833.4	-	2	214	c.149A>C	c.(148-150)aAt>aCt	p.N50T	CUBN_ENST00000377823.1_Missense_Mutation_p.N50T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	50					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAACACCAAATTTCCTCTCTC	0.348																																																	0													64	67	66					10																	17171223		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.149A>C	10.37:g.17171223T>G	ENSP00000367064:p.Asn50Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.N50T	ENST00000377833.4	37	c.149	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852404	0.71719	.	.	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.90504	-1.1;-2.68	5.23	4.09	0.47781	.	0.000000	0.44902	D	0.000414	D	0.91868	0.7426	M	0.64997	1.995	0.39541	D	0.968828	D	0.60575	0.988	P	0.57204	0.815	D	0.92126	0.5708	10	0.56958	D	0.05	.	9.8283	0.40925	0.0:0.0833:0.0:0.9167	.	50	O60494	CUBN_HUMAN	T	50	ENSP00000367064:N50T;ENSP00000367054:N50T	ENSP00000367054:N50T	N	-	2	0	CUBN	17211229	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.818000	0.55678	2.099000	0.63709	0.482000	0.46254	AAT	CUBN	-	NULL	ENSG00000107611		0.348	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	47	0	T	NM_001081		17171223	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.999	G	G	17171223	T	G	17171223	3	3	13	1	0	0	0	0	1	0	0	0	4060	1493	52	4	10986	4	CUBN	10	17171223	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	201014	17171223	118363524	362	3908											
MYO3A	53904	genome.wustl.edu	37	chr10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-																															aacagagtgtatcagactccAaaaaaaatgaataatgtgta																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)											67	66	67					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.M1192fs	ENST00000265944.5	37	c.3567	CCDS7148.1	10																																																																																			MYO3A	-	superfamily_P-loop_NTPase	ENSG00000095777		0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0	42	0	A	NM_017433		26462760	1	tier1		no_errors	ENST00000265944	ensembl	human	known	74_37	frame_shift_del	30.30	46	20	DEL	0.509	-	-	26462760	A	-	26462760	7	5	13	1	0	1	0	1	0	0	0	0	10114	117	5	0	3677	0	MYO3A	10	26462760	Frame_Shift_Del	DEL	A	TCGA-IC-A6RE-01A-11D-A33E-09	9291537	26462760	109071987	363	3909											
APBB1IP	54518	genome.wustl.edu	37	chr10	26800761	26800761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccgagatgttctggacaAccttttcgagaaaactcatt	11	11	9	10	2	2	2	1	0	1	2	3	5	2	3	2	2	2	1	2	2	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:26800761A>G	ENST00000376236.4	+	7	1072	c.617A>G	c.(616-618)aAc>aGc	p.N206S	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	206	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GTTCTGGACAACCTTTTCGAG	0.478																																																	0													160	149	153					10																	26800761		2203	4300	6503	SO:0001583	missense	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.617A>G	10.37:g.26800761A>G	ENSP00000365411:p.Asn206Ser		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.N206S	ENST00000376236.4	37	c.617	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065119	0.76187	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.16597	2.33	5.65	5.65	0.86999	Ras-association (3);	0.039490	0.85682	D	0.000000	T	0.28632	0.0709	L	0.50333	1.59	0.80722	D	1	B;D	0.60160	0.115;0.987	B;P	0.60415	0.246;0.874	T	0.04360	-1.0957	10	0.06365	T	0.9	.	15.8689	0.79091	1.0:0.0:0.0:0.0	.	206;206	B4E100;Q7Z5R6	.;AB1IP_HUMAN	S	206	ENSP00000365411:N206S	ENSP00000365411:N206S	N	+	2	0	APBB1IP	26840767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.097000	0.76967	2.150000	0.67090	0.533000	0.62120	AAC	APBB1IP	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000077420		0.478	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	-	0	116	0	A	NM_019043		26800761	1	tier1	-	no_errors	ENST00000376236	ensembl	human	known	74_37	missense	28.17	51	20	SNP	1.000	G	G	26800761	A	G	26800761	3	3	13	1	0	0	0	0	1	0	0	0	760	43	2	4	635	4	APBB1IP	10	26800761	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	338001	26800761	108733986	364	3910											
CCDC7	79741	genome.wustl.edu	37	chr10	32833185	32833185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgttacaggaagatgtctCcagaaaaagagtttaaaata	18	11	8	4	0	1	3	0	0	1	3	2	4	1	4	1	1	1	2	1	1	8	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:32833185C>T	ENST00000362006.5	+	14	1633	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	CCDC7_ENST00000277657.6_Missense_Mutation_p.P364S|C10orf68_ENST00000572165.1_3'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	364										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				GAAGATGTCTCCAGAAAAAGA	0.308																																																	0													71	75	74					10																	32833185		2203	4287	6490	SO:0001583	missense	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1090C>T	10.37:g.32833185C>T	ENSP00000355078:p.Pro364Ser		Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.P364S	ENST00000362006.5	37	c.1090	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	C	2.547	-0.304993	0.05495	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	T;T;T	0.58358	1.47;1.47;0.34	3.19	-6.38	0.01957	.	.	.	.	.	T	0.25606	0.0623	N	0.24115	0.695	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26950	-1.0088	9	0.09084	T	0.74	-18.3038	2.8644	0.05596	0.1186:0.4422:0.1139:0.3252	.	364	Q96M83	CCDC7_HUMAN	S	364;364;33	ENSP00000277657:P364S;ENSP00000355078:P364S;ENSP00000401923:P33S	ENSP00000277657:P364S	P	+	1	0	CCDC7	32873191	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.799000	0.00184	-2.321000	0.00641	-0.813000	0.03139	CCA	CCDC7	-	NULL	ENSG00000216937		0.308	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1		0	40	0	C	NM_145023		32833185	1			no_errors	ENST00000277657	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.000	T	T	32833185	C	T	32833185	3	4	13	1	0	0	0	0	1	0	0	0	2849	855	30	3	1140	3	CCDC7	10	32833185	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	6032424	32833185	102701562	365	3911											
PARD3	56288	genome.wustl.edu	37	chr10	34601286	34601286	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcgctttgttgttcatctCttctcgggcttcagtttggc	4	18	9	10	2	4	0	2	0	2	0	7	0	4	0	0	2	0	5	0	2	1	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:34601286C>T	ENST00000374789.3	-	20	3400				PARD3_ENST00000545260.1_Intron|PARD3_ENST00000466092.1_Intron|PARD3_ENST00000340077.5_Silent_p.K1030K|PARD3_ENST00000374788.3_Intron|PARD3_ENST00000374773.1_Silent_p.K1000K|PARD3_ENST00000374776.1_Silent_p.K987K|PARD3_ENST00000545693.1_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000544292.1_Silent_p.K746K|PARD3_ENST00000350537.4_Intron	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator						apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGTTCATCTCTTCTCGGGCT	0.358																																																	0													307	281	289					10																	34601286		876	1991	2867	SO:0001627	intron_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3074+4748G>A	10.37:g.34601286C>T			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K1030	ENST00000374789.3	37	c.3090	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.358	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0	124	0	C	NM_019619		34601286	-1	tier1	-	no_errors	ENST00000340077	ensembl	human	known	74_37	silent	13.21	92	14	SNP	1.000	T	T	34601286	C	T	34601286	1	4	13	0	1	0	0	0	0	0	0	0	11482	912	32	3		3	PARD3	10	34601286	Intron	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1768101	34601286	100933461	366	3912											
CHAT	1103	genome.wustl.edu	37	chr10	50870765	50870765	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccatgtgcaaggagctGcccgagatgttcatggatga	9	8	15	9	2	1	2	1	1	0	1	1	5	1	4	2	3	3	3	2	3	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:50870765G>T	ENST00000337653.2	+	14	2067	c.1914G>T	c.(1912-1914)ctG>ctT	p.L638L	CHAT_ENST00000351556.3_Silent_p.L520L|CHAT_ENST00000339797.1_Silent_p.L520L|CHAT_ENST00000455728.2_Silent_p.L520L|CHAT_ENST00000395562.2_Silent_p.L556L|CHAT_ENST00000395559.2_Silent_p.L520L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	638					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCAAGGAGCTGCCCGAGATGT	0.577																																																	0													155	147	150					10																	50870765		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1914G>T	10.37:g.50870765G>T			A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	pfam_Carn_acyl_trans	p.L638	ENST00000337653.2	37	c.1914	CCDS7232.1	10																																																																																			CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.577	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	55	0	G	NM_020549		50870765	1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.998	T	T	50870765	G	T	50870765	2	4	13	1	0	0	0	0	0	0	0	1	3320	1306	46	3		3	CHAT	10	50870765	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	16269479	50870765	84663982	367	3913											
PCDH15	65217	genome.wustl.edu	37	chr10	55582821	55582821	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttactcttggcttgtatTttgggtgaaaatgggtctac	8	16	11	6	0	2	1	0	1	2	0	2	2	2	1	0	3	2	2	0	3	5	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:55582821T>C	ENST00000320301.6	-	33	5059	c.4665A>G	c.(4663-4665)aaA>aaG	p.K1555K	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Silent_p.K1515K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.K1557K|PCDH15_ENST00000395430.1_Silent_p.K1552K|PCDH15_ENST00000437009.1_Silent_p.K1486K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.K1532K|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1555					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGCTTGTATTTTGGGTGAAA	0.423										HNSCC(58;0.16)																																							0													84	89	87					10																	55582821		2203	4299	6502	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4665A>G	10.37:g.55582821T>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1555	ENST00000320301.6	37	c.4665	CCDS7248.1	10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	41	0	T	NM_033056		55582821	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.059	C	C	55582821	T	C	55582821	2	2	13	1	0	0	0	0	0	0	0	1	11550	1838	64	4		4	PCDH15	10	55582821	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4712056	55582821	79951926	368	3914											
PCDH15	65217	genome.wustl.edu	37	chr10	55955475	55955475	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtccagagctactattcTtaaaggtgaagtcaaattga	13	13	8	7	0	2	3	1	2	1	1	3	3	3	3	1	1	2	1	1	1	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:55955475T>G	ENST00000320301.6	-	11	1667	c.1273A>C	c.(1273-1275)Aga>Cga	p.R425R	PCDH15_ENST00000395440.1_Silent_p.R425R|PCDH15_ENST00000373957.3_Silent_p.R403R|PCDH15_ENST00000373965.2_Silent_p.R425R|PCDH15_ENST00000395438.1_Silent_p.R425R|PCDH15_ENST00000395445.1_Silent_p.R425R|PCDH15_ENST00000395432.2_Silent_p.R388R|PCDH15_ENST00000414778.1_Silent_p.R430R|PCDH15_ENST00000395446.1_Silent_p.R425R|PCDH15_ENST00000361849.3_Silent_p.R425R|PCDH15_ENST00000395430.1_Silent_p.R425R|PCDH15_ENST00000437009.1_Silent_p.R425R|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Silent_p.R403R|PCDH15_ENST00000373955.1_Silent_p.R425R|PCDH15_ENST00000409834.1_Silent_p.R29R	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTACTATTCTTAAAGGTGAA	0.368										HNSCC(58;0.16)																																							0													112	105	107					10																	55955475		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1273A>C	10.37:g.55955475T>G			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R425	ENST00000320301.6	37	c.1273	CCDS7248.1	10																																																																																			PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	51	0	T	NM_033056		55955475	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	38.24	42	26	SNP	1.000	G	G	55955475	T	G	55955475	2	3	13	1	0	0	0	0	0	0	0	1	11550	1617	56	4		4	PCDH15	10	55955475	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	372654	55955475	79579272	369	3915											
ANK3	288	genome.wustl.edu	37	chr10	61830372	61830372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtcaagccatcatcttCatcttgcaggtcatagccat	9	13	6	13	0	7	0	4	0	3	0	7	0	7	0	2	1	3	1	2	1	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:61830372C>T	ENST00000280772.2	-	37	10458	c.10267G>A	c.(10267-10269)Gaa>Aaa	p.E3423K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3423					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCATCATCTTCATCTTGCAGG	0.468																																																	0													109	101	104					10																	61830372		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10267G>A	10.37:g.61830372C>T	ENSP00000280772:p.Glu3423Lys		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E3423K	ENST00000280772.2	37	c.10267	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612651	0.87258	.	.	ENSG00000151150	ENST00000280772	T	0.75154	-0.91	5.48	5.48	0.80851	.	0.000000	0.43110	D	0.000612	D	0.83133	0.5188	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.80935	-0.1160	10	0.35671	T	0.21	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	3423	Q12955	ANK3_HUMAN	K	3423	ENSP00000280772:E3423K	ENSP00000280772:E3423K	E	-	1	0	ANK3	61500378	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.584000	0.87258	0.561000	0.74099	GAA	ANK3	-	NULL	ENSG00000151150		0.468	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	37	0	C	NM_020987		61830372	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	61830372	C	T	61830372	3	4	13	1	0	0	0	0	1	0	0	0	622	835	29	3	3207	3	ANK3	10	61830372	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	5874897	61830372	73704375	370	3916											
TET1	80312	genome.wustl.edu	37	chr10	70446324	70446325	+	Missense_Mutation	DNP	GA	GA	CG																															tcagcctgttccccgttctgGaaagaagagggctgcgatga																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:70446324_70446325GA>CG	ENST00000373644.4	+	11	5473_5474	c.5264_5265GA>CG	c.(5263-5265)gGA>gCG	p.G1755A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1755					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCGTTCTGGAAAGAAGAGGG	0.49																																																	0																																										SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	Exception_encountered	10.37:g.70446324_70446325delinsCG	ENSP00000362748:p.Gly1755Ala		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation|Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G1755A|p.G1755	ENST00000373644.4	37	c.5264|c.5265	CCDS7281.1	10																																																																																			TET1	-	NULL	ENSG00000138336		0.49	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0	86|101	0	G|A	NM_030625		70446324|70446325	1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense|silent	18.60|18.39	70|71	16	SNP	0.922|0.928	C|G	CG	70446325	GA	CG	70446324	3	2	13	1	0	0	0	0	1	0	0	0	15816	1174	41	5	5302	5	TET1	10	70446324	Missense_Mutation	DNP	GA	TCGA-IC-A6RE-01A-11D-A33E-09	8615952	70446324	65088423	371	3917											
TET1	80312	genome.wustl.edu	37	chr10	70450805	70450805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcactccccactgtaCgatgccttcgggaagactca	11	7	9	14	2	1	1	1	0	0	1	3	3	2	2	3	1	4	3	3	1	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:70450805C>T	ENST00000373644.4	+	12	5854	c.5645C>T	c.(5644-5646)aCg>aTg	p.T1882M		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1882					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCACTGTACGATGCCTTCG	0.577																																																	0													76	68	70					10																	70450805		2203	4300	6503	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5645C>T	10.37:g.70450805C>T	ENSP00000362748:p.Thr1882Met		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.T1882M	ENST00000373644.4	37	c.5645	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567028	0.28003	.	.	ENSG00000138336	ENST00000373644	T	0.08008	3.14	5.55	3.66	0.41972	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.865726	0.09616	N	0.778291	T	0.18383	0.0441	L	0.61218	1.895	0.09310	N	1	D	0.64830	0.994	P	0.58577	0.841	T	0.17077	-1.0381	10	0.45353	T	0.12	.	4.1735	0.10341	0.1789:0.6037:0.0:0.2174	.	1882	Q8NFU7	TET1_HUMAN	M	1882	ENSP00000362748:T1882M	ENSP00000362748:T1882M	T	+	2	0	TET1	70120811	0.002000	0.14202	0.278000	0.24718	0.010000	0.07245	1.469000	0.35343	0.684000	0.31448	0.655000	0.94253	ACG	TET1	-	NULL	ENSG00000138336		0.577	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0	34	0	C	NM_030625		70450805	1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.012	T	T	70450805	C	T	70450805	3	4	13	1	0	0	0	0	1	0	0	0	15816	536	19	1	5687	1	TET1	10	70450805	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4481	70450805	65083942	372	3918											
ADAMTS14	140766	genome.wustl.edu	37	chr10	72517717	72517717	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgacccacccacggcaGtgctctgccacctgtggaga	8	6	11	16	1	1	2	0	1	1	1	1	3	1	2	4	2	2	3	4	2	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:72517717G>C	ENST00000373207.1	+	20	2937		c.e20-1		ADAMTS14_ENST00000373208.1_Splice_Site	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14						collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ACCCACGGCAGTGCTCTGCCA	0.657																																																	0													58	60	59					10																	72517717		2202	4298	6500	SO:0001630	splice_region_variant	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2938-1G>C	10.37:g.72517717G>C			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Splice_Site	SNP	-	e20-1	ENST00000373207.1	37	c.2947-1	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924193	0.52653	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3755	0.83383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAMTS14	72187723	1.000000	0.71417	0.999000	0.59377	0.454000	0.32378	9.650000	0.98490	2.180000	0.69256	0.462000	0.41574	.	ADAMTS14	-	-	ENSG00000138316		0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	-	0	56	0	G	NM_080722	Intron	72517717	1	tier1	-	no_errors	ENST00000373208	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	1.000	C	C	72517717	G	C	72517717	5	2	13	1	0	0	0	0	0	0	1	0	259	1043	36	5	3024	5	ADAMTS14	10	72517717	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2066912	72517717	63017030	373	3919											
USP54	159195	genome.wustl.edu	37	chr10	75294426	75294426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcccctgagaatcaGaagagaagtgactgaccaca	14	7	10	10	0	1	6	1	4	0	3	2	8	2	6	3	0	0	0	3	0	3	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:75294426G>T	ENST00000339859.4	-	11	1347	c.1247C>A	c.(1246-1248)tCt>tAt	p.S416Y	USP54_ENST00000394811.2_De_novo_Start_OutOfFrame|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.S416Y|USP54_ENST00000319786.7_Missense_Mutation_p.S416Y|USP54_ENST00000428547.1_Missense_Mutation_p.S266Y			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	416					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTGAGAATCAGAAGAGAAGTG	0.493																																					Colon(195;880 2046 8854 25025 38456)												0													133	129	130					10																	75294426		1925	4125	6050	SO:0001583	missense	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1247C>A	10.37:g.75294426G>T	ENSP00000345216:p.Ser416Tyr		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S416Y	ENST00000339859.4	37	c.1247	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312028	0.81358	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T	0.46819	1.01;1.01;0.86	5.54	5.54	0.83059	.	1.033900	0.07831	U	0.961312	T	0.66025	0.2748	L	0.38175	1.15	0.34322	D	0.686641	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.85130	0.996;0.994;0.997	T	0.67106	-0.5754	10	0.87932	D	0	-5.4508	19.5024	0.95100	0.0:0.0:1.0:0.0	.	416;416;416	B7Z7X1;Q70EL1-6;Q70EL1	.;.;UBP54_HUMAN	Y	416;416;266;416	ENSP00000345216:S416Y;ENSP00000386080:S416Y;ENSP00000408714:S266Y	ENSP00000326547:S416Y	S	-	2	0	USP54	74964432	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.017000	0.93651	2.607000	0.88179	0.655000	0.94253	TCT	USP54	-	NULL	ENSG00000166348		0.493	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	-	0	89	0	G	NM_152586		75294426	-1	tier1	-	no_errors	ENST00000339859	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	75294426	G	T	75294426	3	4	13	1	0	0	0	0	1	0	0	0	17134	942	33	3	3859	3	USP54	10	75294426	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2776709	75294426	60240321	374	3920											
MMRN2	79812	genome.wustl.edu	37	chr10	88717281	88717281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggggcccccaaggctgaaCagcaagctcaggatcatctt	11	6	12	12	0	3	1	2	1	1	0	3	2	3	2	2	4	3	3	2	4	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:88717281C>T	ENST00000372027.5	-	1	339	c.18G>A	c.(16-18)ctG>ctA	p.L6L	SNCG_ENST00000372017.3_5'Flank|SNCG_ENST00000348795.4_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	6					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CAAGGCTGAACAGCAAGCTCA	0.597																																																	0													48	57	54					10																	88717281		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.18G>A	10.37:g.88717281C>T			Q504V7|Q6P2N2	Silent	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.L6	ENST00000372027.5	37	c.18	CCDS7379.1	10																																																																																			MMRN2	-	NULL	ENSG00000173269		0.597	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0	36	0	C	NM_024756		88717281	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.532	T	T	88717281	C	T	88717281	2	4	13	1	0	0	0	0	0	0	0	1	9709	465	17	3		3	MMRN2	10	88717281	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	13422855	88717281	46817466	375	3921											
MMS19	64210	genome.wustl.edu	37	chr10	99225566	99225566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcctagtagttacctctGttcacttgccagagatgctg	8	15	8	10	0	2	1	1	0	1	1	3	2	3	1	3	0	3	4	3	0	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99225566G>T	ENST00000438925.2	-	18	2087	c.1752C>A	c.(1750-1752)aaC>aaA	p.N584K	MMS19_ENST00000370782.2_Missense_Mutation_p.N584K|MMS19_ENST00000327238.10_Missense_Mutation_p.N486K|MMS19_ENST00000327277.7_Missense_Mutation_p.N220K|MMS19_ENST00000355839.6_Missense_Mutation_p.N541K	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	584					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGTTACCTCTGTTCACTTGCC	0.498								Direct reversal of damage																																									0													148	140	143					10																	99225566		2203	4300	6503	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1752C>A	10.37:g.99225566G>T	ENSP00000412698:p.Asn584Lys		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.N584K	ENST00000438925.2	37	c.1752	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.55|12.55	1.972373|1.972373	0.34848|0.34848	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000327253;ENST00000355839|ENST00000434538	T;T;T;T;T|.	0.66099|.	-0.1;-0.1;-0.19;-0.1;-0.1|.	5.0|5.0	3.13|3.13	0.36017|0.36017	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.203799|.	0.50627|.	D|.	0.000108|.	T|T	0.40719|0.40719	0.1128|0.1128	L|L	0.51422|0.51422	1.61|1.61	0.26464|0.26464	N|N	0.975397|0.975397	B;P;B;B;B|.	0.34800|.	0.018;0.469;0.089;0.018;0.031|.	B;B;B;B;B|.	0.30572|.	0.013;0.117;0.046;0.013;0.013|.	T|T	0.26503|0.26503	-1.0101|-1.0101	10|5	0.06099|.	T|.	0.92|.	.|.	6.9063|6.9063	0.24311|0.24311	0.173:0.1925:0.6344:0.0|0.173:0.1925:0.6344:0.0	.|.	605;486;541;584;541|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	K|K	584;584;486;563;220;169;541|159	ENSP00000412698:N584K;ENSP00000359818:N584K;ENSP00000320059:N486K;ENSP00000322236:N220K;ENSP00000348097:N541K|.	ENSP00000320059:N486K|.	N|T	-|-	3|2	2|0	MMS19|MMS19	99215556|99215556	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.763000|0.763000	0.43281|0.43281	1.853000|1.853000	0.39358|0.39358	1.099000|1.099000	0.41499|0.41499	0.561000|0.561000	0.74099|0.74099	AAC|ACA	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0	47	0	G			99225566	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	99225566	G	T	99225566	3	4	13	1	0	0	0	0	1	0	0	0	9710	1368	48	3	1396	3	MMS19	10	99225566	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	10508285	99225566	36309181	376	3922											
MMS19	64210	genome.wustl.edu	37	chr10	99225902	99225902	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttcctgatgcttccAgtgctgccaccctgctggag	5	10	12	14	0	0	1	0	1	0	0	2	2	2	2	5	2	4	4	5	2	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99225902A>T	ENST00000438925.2	-	17	1855	c.1520T>A	c.(1519-1521)cTg>cAg	p.L507Q	MMS19_ENST00000370782.2_Missense_Mutation_p.L507Q|MMS19_ENST00000327238.10_Missense_Mutation_p.L409Q|MMS19_ENST00000327277.7_Missense_Mutation_p.L143Q|MMS19_ENST00000355839.6_Missense_Mutation_p.L464Q	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	507					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		TGATGCTTCCAGTGCTGCCAC	0.572								Direct reversal of damage																																									0													32	29	30					10																	99225902		2199	4287	6486	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1520T>A	10.37:g.99225902A>T	ENSP00000412698:p.Leu507Gln		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.L507Q	ENST00000438925.2	37	c.1520	CCDS7464.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.66|16.66	3.185709|3.185709	0.57909|0.57909	.|.	.|.	ENSG00000155229|ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000327253;ENST00000355839|ENST00000434538	T;T;T;T;T|.	0.71461|.	-0.57;-0.57;-0.48;-0.57;-0.57|.	5.34|5.34	5.34|5.34	0.76211|0.76211	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.219663|.	0.46145|.	D|.	0.000305|.	T|T	0.63943|0.63943	0.2554|0.2554	L|L	0.51422|0.51422	1.61|1.61	0.41260|0.41260	D|D	0.986779|0.986779	P;D;P;B;P|.	0.55605|.	0.49;0.972;0.789;0.351;0.49|.	B;P;B;B;B|.	0.51516|.	0.125;0.672;0.426;0.125;0.177|.	T|T	0.62562|0.62562	-0.6828|-0.6828	10|5	0.25751|.	T|.	0.34|.	.|.	15.3009|15.3009	0.73949|0.73949	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	528;409;464;507;464|.	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3|.	.;.;.;MMS19_HUMAN;.|.	Q|R	507;507;409;486;143;92;464|82	ENSP00000412698:L507Q;ENSP00000359818:L507Q;ENSP00000320059:L409Q;ENSP00000322236:L143Q;ENSP00000348097:L464Q|.	ENSP00000320059:L409Q|.	L|W	-|-	2|1	0|0	MMS19|MMS19	99215892|99215892	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	7.605000|7.605000	0.82844|0.82844	2.027000|2.027000	0.59764|0.59764	0.459000|0.459000	0.35465|0.35465	CTG|TGG	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.572	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0	21	0	A			99225902	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	T	T	99225902	A	T	99225902	3	4	13	1	0	0	0	0	1	0	0	0	9710	188	7	5	1632	5	MMS19	10	99225902	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	336	99225902	36308845	377	3923											
ANKRD2	26287	genome.wustl.edu	37	chr10	99341131	99341131	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacttagaggtggtgaaacTtctgcaaagccatggagcag	12	8	12	9	0	1	2	0	1	1	1	1	3	1	3	2	3	4	2	2	3	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:99341131T>A	ENST00000307518.5	+	6	962	c.695T>A	c.(694-696)cTt>cAt	p.L232H	ANKRD2_ENST00000298808.5_Missense_Mutation_p.L232H|HOGA1_ENST00000370647.4_5'Flank|PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000455090.1_Missense_Mutation_p.L205H|HOGA1_ENST00000370646.4_5'Flank|PI4K2A_ENST00000370649.3_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.L205H			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	232					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GTGGTGAAACTTCTGCAAAGC	0.542																																																	0													63	63	63					10																	99341131		2203	4300	6503	SO:0001583	missense	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.695T>A	10.37:g.99341131T>A	ENSP00000306163:p.Leu232His		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L232H	ENST00000307518.5	37	c.695	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305417	0.40795	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48	5.41	5.41	0.78517	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000008	D	0.84133	0.5405	M	0.80183	2.485	0.38641	D	0.951614	D;D	0.89917	0.999;1.0	D;D	0.85130	0.951;0.997	D	0.86868	0.2034	10	0.52906	T	0.07	-18.5913	14.4334	0.67266	0.0:0.0:0.0:1.0	.	232;232	Q9GZV1-2;Q9GZV1	.;ANKR2_HUMAN	H	232;232;205;205	ENSP00000306163:L232H;ENSP00000298808:L232H;ENSP00000359689:L205H;ENSP00000403114:L205H	ENSP00000298808:L232H	L	+	2	0	ANKRD2	99331121	0.979000	0.34478	0.994000	0.49952	0.009000	0.06853	2.935000	0.48963	2.043000	0.60533	0.528000	0.53228	CTT	ANKRD2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000165887		0.542	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0	43	0	T			99341131	1	tier1	-	no_errors	ENST00000307518	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.995	A	A	99341131	T	A	99341131	3	1	13	1	0	0	0	0	1	0	0	0	647	1609	56	5	717	5	ANKRD2	10	99341131	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	115229	99341131	36193616	378	3924											
CNNM2	54805	genome.wustl.edu	37	chr10	104814134	104814134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgggaacgaaagcaagAtttttctgcctttaagcaga	13	10	9	9	2	2	2	1	0	1	2	2	4	2	3	2	1	4	2	2	1	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:104814134A>G	ENST00000369878.4	+	3	2002	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CNNM2_ENST00000433628.2_Missense_Mutation_p.D605G	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	605					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGAAAGCAAGATTTTTCTGCC	0.443											OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66	67	66					10																	104814134		1950	4140	6090	SO:0001583	missense	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1814A>G	10.37:g.104814134A>G	ENSP00000358894:p.Asp605Gly	1384	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.D605G	ENST00000369878.4	37	c.1814	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886077	0.72410	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T;T	0.75154	-0.91;-0.9	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.91635	0.999;0.908	D	0.88923	0.3367	10	0.72032	D	0.01	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	605;605	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	G	605	ENSP00000392875:D605G;ENSP00000358894:D605G	ENSP00000286899:D605G	D	+	2	0	CNNM2	104804124	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	GAT	CNNM2	-	superfamily_cNMP-bd-like	ENSG00000148842		0.443	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	-	0	57	0	A	NM_017649		104814134	1	tier1	-	no_errors	ENST00000369878	ensembl	human	known	74_37	missense	11.76	44	6	SNP	1.000	G	G	104814134	A	G	104814134	3	3	13	1	0	0	0	0	1	0	0	0	3620	333	12	4	1866	4	CNNM2	10	104814134	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	5473003	104814134	30720613	379	3925											
SORCS3	22986	genome.wustl.edu	37	chr10	106960907	106960907	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtcatgggagaaaggaaAatattcaagaaacgtaagcc	17	8	11	5	1	2	2	2	0	0	2	2	4	2	3	1	2	2	1	1	2	7	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:106960907A>C	ENST00000369701.3	+	16	2384	c.2157A>C	c.(2155-2157)aaA>aaC	p.K719N	SORCS3_ENST00000369699.4_Missense_Mutation_p.K5N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	719					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGAAAGGAAAATATTCAAGA	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)												0													98	88	91					10																	106960907		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2157A>C	10.37:g.106960907A>C	ENSP00000358715:p.Lys719Asn		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.K719N	ENST00000369701.3	37	c.2157	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344226	0.61073	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.30714	1.55;1.52	5.78	4.66	0.58398	VPS10 (1);	0.054013	0.85682	D	0.000000	T	0.23094	0.0558	L	0.43152	1.355	0.37202	D	0.904438	P	0.42827	0.791	B	0.38616	0.277	T	0.11665	-1.0578	9	.	.	.	.	7.6507	0.28346	0.8534:0.0:0.1466:0.0	.	719	Q9UPU3	SORC3_HUMAN	N	719;5	ENSP00000358715:K719N;ENSP00000358713:K5N	.	K	+	3	2	SORCS3	106950897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.635000	0.46537	2.208000	0.71279	0.528000	0.53228	AAA	SORCS3	-	smart_VPS10	ENSG00000156395		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	57	0	A	NM_014978		106960907	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C	C	106960907	A	C	106960907	3	2	13	1	0	0	0	0	1	0	0	0	14977	11	1	4	2219	4	SORCS3	10	106960907	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2146773	106960907	28573840	380	3926											
PRDX3	10935	genome.wustl.edu	37	chr10	120933985	120933985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaaaggatagaagaaaaGcaccaaatatttccccttaa	19	8	5	9	0	0	2	0	0	0	2	2	3	2	3	4	1	1	1	4	1	8	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:120933985G>A	ENST00000298510.2	-	3	331	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PRDX3_ENST00000356951.3_Missense_Mutation_p.L79F	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	97	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|maternal placenta development (GO:0001893)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of kinase activity (GO:0033673)|peptidyl-cysteine oxidation (GO:0018171)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of mitochondrial membrane potential (GO:0051881)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	alkyl hydroperoxide reductase activity (GO:0008785)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|kinase binding (GO:0019900)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TAGAAGAAAAGCACCAAATAT	0.413																																					Pancreas(36;562 1096 2447 42526)												0													88	80	83					10																	120933985		2203	4300	6503	SO:0001583	missense	0			D49396	CCDS7611.1	10q25-q26	2010-11-24			ENSG00000165672	ENSG00000165672			9354	protein-coding gene	gene with protein product		604769	"antioxidant protein 1"	AOP1		7733872, 9363753	Standard	NM_006793		Approved	MER5, AOP-1, SP-22	uc001lec.3	P30048	OTTHUMG00000019146	ENST00000298510.2:c.289C>T	10.37:g.120933985G>A	ENSP00000298510:p.Leu97Phe		B2R7Z0|D3DRC9|E9PH29|P35690|Q0D2H1|Q13776|Q5T5V2|Q96HK4	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.L97F	ENST00000298510.2	37	c.289	CCDS7611.1	10	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896750	0.72639	.	.	ENSG00000165672	ENST00000356951;ENST00000298510	T;T	0.28069	1.63;1.63	4.89	4.89	0.63831	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	L	0.58583	1.82	0.80722	D	1	P	0.42620	0.785	P	0.45794	0.493	T	0.10064	-1.0646	10	0.23891	T	0.37	-23.4261	18.4371	0.90650	0.0:0.0:1.0:0.0	.	97	P30048	PRDX3_HUMAN	F	79;97	ENSP00000349432:L79F;ENSP00000298510:L97F	ENSP00000298510:L97F	L	-	1	0	PRDX3	120923975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.664000	0.74437	2.415000	0.81967	0.655000	0.94253	CTT	PRDX3	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000165672		0.413	PRDX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX3	HGNC	protein_coding	OTTHUMT00000050639.1	-	0	70	0	G	NM_006793		120933985	-1	tier1	-	no_errors	ENST00000298510	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	A	A	120933985	G	A	120933985	3	1	13	1	0	0	0	0	1	0	0	0	12508	971	34	3	501	3	PRDX3	10	120933985	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	13973078	120933985	14600762	381	3927											
INPP5F	22876	genome.wustl.edu	37	chr10	121557109	121557109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtgcctgtcttttggagCcaggttgggtatcgatataa	7	15	12	7	1	2	0	0	0	2	0	3	2	2	1	2	3	2	2	2	3	3	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:121557109C>A	ENST00000361976.2	+	8	1171	c.1005C>A	c.(1003-1005)agC>agA	p.S335R	INPP5F_ENST00000369083.3_Missense_Mutation_p.S335R	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TCTTTTGGAGCCAGGTTGGGT	0.418																																																	0													97	83	88					10																	121557109		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1005C>A	10.37:g.121557109C>A	ENSP00000354519:p.Ser335Arg		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.S335R	ENST00000361976.2	37	c.1005	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055560	0.55325	.	.	ENSG00000198825	ENST00000361976;ENST00000369083	T;T	0.59638	0.25;0.25	5.65	3.73	0.42828	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	M	0.80422	2.495	0.80722	D	1	B	0.32939	0.391	B	0.42112	0.376	T	0.64786	-0.6325	10	0.72032	D	0.01	-19.2263	8.4143	0.32662	0.0:0.6926:0.0:0.3074	.	335	Q9Y2H2	SAC2_HUMAN	R	335	ENSP00000354519:S335R;ENSP00000358079:S335R	ENSP00000354519:S335R	S	+	3	2	INPP5F	121547099	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.113000	0.31184	0.792000	0.33850	0.563000	0.77884	AGC	INPP5F	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000198825		0.418	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	-	0	42	0	C	NM_014937		121557109	1	tier1	-	no_errors	ENST00000361976	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	A	A	121557109	C	A	121557109	3	1	13	1	0	0	0	0	1	0	0	0	7785	738	26	3	1035	3	INPP5F	10	121557109	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	623124	121557109	13977638	382	3928											
WDR11	55717	genome.wustl.edu	37	chr10	122660587	122660587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaataaagaatctcctccaAgaacagttgaattcattgtc	16	11	6	8	0	2	3	1	1	1	2	5	4	3	3	2	0	1	1	2	0	7	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:122660587A>T	ENST00000263461.6	+	21	2910	c.2664A>T	c.(2662-2664)caA>caT	p.Q888H	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Lys-rich.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATCTCCTCCAAGAACAGTTGA	0.294																																																	0													72	79	77					10																	122660587		2201	4295	6496	SO:0001583	missense	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2664A>T	10.37:g.122660587A>T	ENSP00000263461:p.Gln888His		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.Q888H	ENST00000263461.6	37	c.2664	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627706	0.66901	.	.	ENSG00000120008	ENST00000263461	D	0.91011	-2.77	5.81	0.658	0.17855	.	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	L	0.44542	1.39	0.49130	D	0.999757	D;D;D;P	0.63880	0.99;0.99;0.993;0.93	D;D;P;P	0.72982	0.979;0.979;0.906;0.652	D	0.88229	0.2902	10	0.51188	T	0.08	-16.5495	9.7979	0.40746	0.6714:0.0:0.3286:0.0	.	888;888;179;417	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	H	888	ENSP00000263461:Q888H	ENSP00000263461:Q888H	Q	+	3	2	WDR11	122650577	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	0.857000	0.27831	-0.128000	0.11641	0.533000	0.62120	CAA	WDR11	-	NULL	ENSG00000120008		0.294	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2	-	0	106	0	A			122660587	1	tier1	-	no_errors	ENST00000263461	ensembl	human	known	74_37	missense	27.39	114	43	SNP	1.000	T	T	122660587	A	T	122660587	3	4	13	1	0	0	0	0	1	0	0	0	17322	69	3	5	2746	5	WDR11	10	122660587	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1103478	122660587	12874160	383	3929											
TACC2	10579	genome.wustl.edu	37	chr10	123846540	123846540	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgacctgggagcggaacTtgccaggtgccggtgtgggg	5	7	20	9	2	0	1	0	1	0	0	0	3	0	3	3	7	4	1	3	7	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:123846540T>G	ENST00000369005.1	+	4	4865	c.4525T>G	c.(4525-4527)Ttg>Gtg	p.L1509V	TACC2_ENST00000334433.3_Missense_Mutation_p.L1509V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.L1509V|TACC2_ENST00000515273.1_Missense_Mutation_p.L1509V|TACC2_ENST00000515603.1_Missense_Mutation_p.L1509V|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1509					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGAGCGGAACTTGCCAGGTGC	0.632																																																	0													46	47	47					10																	123846540		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4525T>G	10.37:g.123846540T>G	ENSP00000358001:p.Leu1509Val		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.L1509V	ENST00000369005.1	37	c.4525	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601461	0.46423	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.11385	3.58;2.78;3.5;3.58;2.78	5.24	2.32	0.28847	.	1.648780	0.04683	N	0.412760	T	0.16300	0.0392	L	0.29908	0.895	0.09310	N	1	D;D;D	0.56968	0.978;0.978;0.978	P;P;P	0.55615	0.78;0.78;0.78	T	0.16482	-1.0401	10	0.62326	D	0.03	-0.0351	5.0809	0.14656	0.165:0.6548:0.0:0.1801	.	1509;1509;1509	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	V	1509;1509;1509;1509;1509;1499	ENSP00000358001:L1509V;ENSP00000424467:L1509V;ENSP00000427618:L1509V;ENSP00000334280:L1509V;ENSP00000395048:L1509V	ENSP00000334280:L1509V	L	+	1	2	TACC2	123836530	0.001000	0.12720	0.001000	0.08648	0.028000	0.11728	0.675000	0.25232	0.184000	0.20083	-0.487000	0.04747	TTG	TACC2	-	NULL	ENSG00000138162		0.632	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	-	0	65	0	T			123846540	1	tier1	-	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	20.93	33	9	SNP	0.036	G	G	123846540	T	G	123846540	3	3	13	1	0	0	0	0	1	0	0	0	15549	1606	56	4	4535	4	TACC2	10	123846540	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1185953	123846540	11688207	384	3930											
DMBT1	1755	genome.wustl.edu	37	chr10	124390531	124390531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtctatgtgccgggcGtgtagaaatttaccatggtg	8	13	13	7	2	1	1	0	0	1	1	1	1	1	1	2	3	2	1	2	3	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:124390531G>A	ENST00000338354.3	+	46	5799	c.5693G>A	c.(5692-5694)cGt>cAt	p.R1898H	DMBT1_ENST00000368955.3_Missense_Mutation_p.R1888H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1888H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1898H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1270H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R618H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1270H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1898	SRCR 14. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTGCCGGGCGTGTAGAAATT	0.493																																					Ovarian(182;93 2026 18125 22222 38972)												0													132	126	128					10																	124390531		1972	4139	6111	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.5693G>A	10.37:g.124390531G>A	ENSP00000342210:p.Arg1898His		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.R1898H	ENST00000338354.3	37	c.5693		10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956427	0.92726	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.3	5.3	0.74995	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.72145	0.3424	H	0.94345	3.525	0.47994	D	0.999564	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.985;1.0;0.999	D;D;D;D;B;D;D	0.97110	1.0;0.996;1.0;0.997;0.314;0.999;0.968	T	0.81019	-0.1122	9	0.72032	D	0.01	.	18.9446	0.92616	0.0:0.0:1.0:0.0	.	618;1878;1147;2027;1270;1888;1898	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	1898;2027;1898;1898;1898;1898;1270;1888;1270;1270;1898;1888;1270;44;618	ENSP00000342210:R1898H;ENSP00000343175:R1888H;ENSP00000327747:R1270H;ENSP00000357905:R1898H;ENSP00000357951:R1888H;ENSP00000357952:R1270H;ENSP00000352593:R618H	ENSP00000331522:R1270H	R	+	2	0	DMBT1	124380521	0.836000	0.29430	0.381000	0.26106	0.050000	0.14768	4.335000	0.59298	2.459000	0.83118	0.655000	0.94253	CGT	DMBT1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000187908		0.493	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0	127	0	G	NM_004406		124390531	1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	27.00	73	27	SNP	0.994	A	A	124390531	G	A	124390531	3	1	13	1	0	0	0	0	1	0	0	0	4591	1145	40	1	5875	1	DMBT1	10	124390531	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	543991	124390531	11144216	385	3931											
OAT	4942	genome.wustl.edu	37	chr10	126094007	126094007	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgctagtgaaatacctCcagtgcgggcagatcattat	12	11	10	8	1	1	3	1	2	0	1	2	3	2	3	2	1	3	2	2	1	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:126094007C>A	ENST00000368845.5	-	5	738	c.646G>T	c.(646-648)Gag>Tag	p.E216*	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Nonsense_Mutation_p.E78*	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	216					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	TGAAATACCTCCAGTGCGGGC	0.398																																																	0													97	84	88					10																	126094007		2203	4300	6503	SO:0001587	stop_gained	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.646G>T	10.37:g.126094007C>A	ENSP00000357838:p.Glu216*		D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Nonsense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	p.E216*	ENST00000368845.5	37	c.646	CCDS7639.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.321916	0.98210	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-4.5449	17.8803	0.88838	0.0:1.0:0.0:0.0	.	.	.	.	X	78;216	.	ENSP00000357838:E216X	E	-	1	0	OAT	126083997	1.000000	0.71417	0.987000	0.45799	0.684000	0.39900	7.406000	0.80017	2.406000	0.81754	0.563000	0.77884	GAG	OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	ENSG00000065154		0.398	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0	62	0	C	NM_000274		126094007	-1	tier1	-	no_errors	ENST00000368845	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	A	A	126094007	C	A	126094007	4	1	13	1	0	0	0	0	0	1	0	0	10842	864	30	3	697	3	OAT	10	126094007	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1703476	126094007	9440740	386	3932											
BCCIP	56647	genome.wustl.edu	37	chr10	127520054	127520054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgagaagaactgtgaaaaGagcatggttgaacagctgga	15	8	14	4	0	0	5	0	3	0	3	0	7	0	6	0	2	4	3	0	2	5	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:127520054G>C	ENST00000278100.6	+	5	489	c.477G>C	c.(475-477)aaG>aaC	p.K159N	BCCIP_ENST00000368759.5_Missense_Mutation_p.K159N|BCCIP_ENST00000478798.1_3'UTR|BCCIP_ENST00000429863.2_Missense_Mutation_p.K129N|BCCIP_ENST00000299130.3_Missense_Mutation_p.K159N	NM_078468.2	NP_510868.1	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A interacting protein	159	Interaction with BRCA2.				cell cycle (GO:0007049)|DNA repair (GO:0006281)|neuroendocrine cell differentiation (GO:0061101)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nucleus (GO:0005634)	kinase regulator activity (GO:0019207)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACTGTGAAAAGAGCATGGTTG	0.428																																																	0													127	118	121					10																	127520054		2203	4300	6503	SO:0001583	missense	0			AB040451	CCDS7649.1, CCDS7650.1, CCDS7651.1	10q26.2	2008-05-14	2001-11-29		ENSG00000107949	ENSG00000107949			978	protein-coding gene	gene with protein product		611883	"BRCA2 and CDKN1A-interacting protein"			11313963, 10878006	Standard	NM_016567		Approved	BCCIPalpha, TOK-1	uc001ljd.4	Q9P287	OTTHUMG00000019237	ENST00000278100.6:c.477G>C	10.37:g.127520054G>C	ENSP00000278100:p.Lys159Asn		B3KP45|Q8ND15|Q96GC4|Q9P288	Missense_Mutation	SNP	NULL	p.K159N	ENST00000278100.6	37	c.477	CCDS7651.1	10	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951010	0.53186	.	.	ENSG00000107949	ENST00000278100;ENST00000299130;ENST00000368759;ENST00000429863;ENST00000392718	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.94	4.03	0.46877	.	0.393637	0.31554	N	0.007455	T	0.50633	0.1627	L	0.56280	1.765	0.20074	N	0.999935	B;P;D;D;P	0.53885	0.444;0.942;0.963;0.963;0.737	B;P;P;P;P	0.50896	0.312;0.636;0.514;0.653;0.499	T	0.43343	-0.9397	10	0.23302	T	0.38	-0.8253	13.56	0.61784	0.0754:0.0:0.9246:0.0	.	129;159;159;159;159	B4E318;B4DUS0;Q9P287-2;Q9P287-4;Q9P287	.;.;.;.;BCCIP_HUMAN	N	159;159;159;129;159	ENSP00000278100:K159N;ENSP00000299130:K159N;ENSP00000357748:K159N;ENSP00000394758:K129N	ENSP00000278100:K159N	K	+	3	2	BCCIP	127510044	0.492000	0.26027	0.044000	0.18714	0.955000	0.61496	2.153000	0.42282	1.207000	0.43291	0.650000	0.86243	AAG	BCCIP	-	NULL	ENSG00000107949		0.428	BCCIP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BCCIP	HGNC	protein_coding	OTTHUMT00000050941.1		0	90	0	G			127520054	1			no_errors	ENST00000368759	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.536	C	C	127520054	G	C	127520054	3	2	13	1	0	0	0	0	1	0	0	0	1357	933	33	5	495	5	BCCIP	10	127520054	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1426047	127520054	8014693	387	3933											
DHX32	55760	genome.wustl.edu	37	chr10	127527584	127527584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctgcataaagtaacCggacagaagagctttcttta	13	11	7	10	1	2	2	1	0	2	2	3	3	2	3	2	1	3	3	2	1	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr10:127527584C>A	ENST00000284690.3	-	9	2357	c.1867G>T	c.(1867-1869)Ggt>Tgt	p.G623C	BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000284688.6_Missense_Mutation_p.G542C|BCCIP_ENST00000429863.2_Intron|BCCIP_ENST00000299130.3_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.G247C	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	623						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.G623S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATAAAGTAACCGGACAGAAGA	0.453																																																	1	Substitution - Missense(1)	endometrium(1)											233	233	233					10																	127527584		2203	4300	6503	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1867G>T	10.37:g.127527584C>A	ENSP00000284690:p.Gly623Cys		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.G623C	ENST00000284690.3	37	c.1867	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385478	0.82792	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.46451	0.87;2.81;2.57	5.02	5.02	0.67125	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82635	-0.0360	10	0.87932	D	0	-30.2538	17.509	0.87755	0.0:1.0:0.0:0.0	.	623	Q7L7V1	DHX32_HUMAN	C	247;623;542	ENSP00000357710:G247C;ENSP00000284690:G623C;ENSP00000284688:G542C	ENSP00000284688:G542C	G	-	1	0	DHX32	127517574	1.000000	0.71417	0.487000	0.27428	0.861000	0.49209	7.413000	0.80104	2.597000	0.87782	0.655000	0.94253	GGT	DHX32	-	pfam_DUF1605	ENSG00000089876		0.453	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2		0	86	0	C	NM_018180		127527584	-1			no_errors	ENST00000284690	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.999	A	A	127527584	C	A	127527584	3	1	13	1	0	0	0	0	1	0	0	0	4519	652	23	2	376	2	DHX32	10	127527584	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	7530	127527584	8007163	388	3934											
MUC5B	727897	genome.wustl.edu	37	chr11	1274134	1274134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagcctgtggccaacgtCacctgcgtgaacaagcacct	11	6	9	15	2	1	1	1	1	0	0	1	1	1	1	5	1	5	1	5	1	4	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:1274134C>T	ENST00000529681.1	+	33	15199	c.15141C>T	c.(15139-15141)gtC>gtT	p.V5047V	MUC5B_ENST00000447027.1_Silent_p.V5050V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5047					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGCCAACGTCACCTGCGTGA	0.627																																																	0													68	77	74					11																	1274134		2160	4238	6398	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.15141C>T	11.37:g.1274134C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V5050	ENST00000529681.1	37	c.15150	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	77	0	C	XM_001126093		1274134	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	32.73	37	18	SNP	0.006	T	T	1274134	C	T	1274134	2	4	13	1	0	0	0	0	0	0	0	1	10017	813	29	3		3	MUC5B	11	1274134	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09		1274134	133732382	389	3935											
NUP98	4928	genome.wustl.edu	37	chr11	3744539	3744539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatggtatcatccacactgTtgctgttgctgtgtttattt	7	18	8	8	0	1	0	1	0	0	0	2	0	2	0	1	1	2	6	1	1	3	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:3744539T>C	ENST00000324932.7	-	16	2414	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	NUP98_ENST00000397007.4_Missense_Mutation_p.N682S|NUP98_ENST00000397004.4_Missense_Mutation_p.N665S|NUP98_ENST00000355260.3_Missense_Mutation_p.N665S|NUP98_ENST00000359171.4_Missense_Mutation_p.N665S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	682					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATCCACACTGTTGCTGTTGCT	0.418			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													193	153	166					11																	3744539		2201	4298	6499	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1994A>G	11.37:g.3744539T>C	ENSP00000316032:p.Asn665Ser		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.N665S	ENST00000324932.7	37	c.1994	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	T	0.126	-1.119328	0.01785	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.44	-8.88	0.00789	.	0.891822	0.09702	N	0.766871	T	0.13543	0.0328	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.001;0.002;0.001	T	0.36696	-0.9737	9	0.02654	T	1	.	5.0251	0.14381	0.1559:0.576:0.0828:0.1852	.	682;665;665;665	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	S	665;665;665;665;682	.	ENSP00000316032:N665S	N	-	2	0	NUP98	3701115	0.000000	0.05858	0.163000	0.22734	0.624000	0.37722	-2.173000	0.01265	-1.388000	0.02092	-2.055000	0.00403	AAC	NUP98	-	NULL	ENSG00000110713		0.418	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0	102	0	T	NM_016320		3744539	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.016	C	C	3744539	T	C	3744539	3	2	13	1	0	0	0	0	1	0	0	0	10812	1725	60	4	3501	4	NUP98	11	3744539	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2470405	3744539	131261977	390	3936											
OR52K1	390036	genome.wustl.edu	37	chr11	4510950	4510950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccatgctgcccctcgtGtccacatactccttgctatt	5	12	6	18	2	0	0	0	0	0	0	3	0	2	0	6	0	4	2	6	0	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:4510950G>T	ENST00000307632.3	+	1	842	c.820G>T	c.(820-822)Gtc>Ttc	p.V274F		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCCCCTCGTGTCCACATACT	0.498																																																	0													199	177	185					11																	4510950		2201	4298	6499	SO:0001583	missense	0			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.820G>T	11.37:g.4510950G>T	ENSP00000302422:p.Val274Phe		B9EH54|Q6IFK5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V274F	ENST00000307632.3	37	c.820	CCDS31352.1	11	.	.	.	.	.	.	.	.	.	.	G	3.805	-0.040963	0.07452	.	.	ENSG00000196778	ENST00000307632	T	0.00130	8.69	4.5	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000693	T	0.00241	0.0007	L	0.51853	1.615	0.09310	N	1	P	0.52463	0.953	D	0.64144	0.922	T	0.47661	-0.9100	10	0.49607	T	0.09	.	3.2862	0.06932	0.2713:0.0:0.5393:0.1894	.	274	Q8NGK4	O52K1_HUMAN	F	274	ENSP00000302422:V274F	ENSP00000302422:V274F	V	+	1	0	OR52K1	4467526	0.010000	0.17322	0.842000	0.33263	0.075000	0.17131	-0.009000	0.12765	0.593000	0.29745	0.411000	0.27672	GTC	OR52K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196778		0.498	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K1	HGNC	protein_coding	OTTHUMT00000385846.1	-	0	47	0	G	NM_001005171		4510950	1	tier1	-	no_errors	ENST00000307632	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.005	T	T	4510950	G	T	4510950	3	4	13	1	0	0	0	0	1	0	0	0	11162	1377	48	3	822	3	OR52K1	11	4510950	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	766411	4510950	130495566	391	3937											
UBQLNL	143630	genome.wustl.edu	37	chr11	5537370	5537370	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctggagccctgcttggacTtgatgaccaagtagatggtg	9	11	13	8	0	1	3	0	2	1	1	1	5	1	5	2	3	2	2	2	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:5537370T>G	ENST00000380184.1	-	1	565	c.302A>C	c.(301-303)aAg>aCg	p.K101T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	101	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGCTTGGACTTGATGACCAA	0.542																																																	0													198	173	182					11																	5537370		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.302A>C	11.37:g.5537370T>G	ENSP00000369531:p.Lys101Thr		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.K101T	ENST00000380184.1	37	c.302	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457954	0.43634	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.55052	0.54	5.52	4.39	0.52855	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.48286	D	0.000198	T	0.67590	0.2909	M	0.82193	2.58	0.30569	N	0.763728	P	0.46142	0.873	P	0.53185	0.72	T	0.71656	-0.4527	10	0.87932	D	0	.	12.2729	0.54716	0.1292:0.0:0.0:0.8708	.	101	Q8IYU4	UBQLN_HUMAN	T	101	ENSP00000369531:K101T	ENSP00000369531:K101T	K	-	2	0	UBQLNL	5493946	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	0.496000	0.22499	0.366000	0.24427	-1.980000	0.00456	AAG	UBQLNL	-	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000175518		0.542	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	-	0	30	0	T	NM_145053		5537370	-1	tier1	-	no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	33.33	16	8	SNP	1.000	G	G	5537370	T	G	5537370	3	3	13	1	0	0	0	0	1	0	0	0	16949	1609	56	4	1129	4	UBQLNL	11	5537370	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1026420	5537370	129469146	392	3938											
FAM160A2	84067	genome.wustl.edu	37	chr11	6243800	6243800	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatactccgtaggaaaagttCcagataggcggtactggcga	12	8	13	8	3	0	1	0	0	0	1	2	4	2	2	2	4	2	3	2	4	6	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:6243800C>A	ENST00000449352.2	-	6	1326	c.1063G>T	c.(1063-1065)Gaa>Taa	p.E355*	FAM160A2_ENST00000265978.4_Nonsense_Mutation_p.E355*|FAM160A2_ENST00000524416.1_Nonsense_Mutation_p.E355*			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	355					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGAAAAGTTCCAGATAGGCG	0.527																																																	0													137	115	122					11																	6243800		2201	4296	6497	SO:0001587	stop_gained	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1063G>T	11.37:g.6243800C>A	ENSP00000416918:p.Glu355*		Q9C0A4|Q9H0N3|Q9H624	Nonsense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.E355*	ENST00000449352.2	37	c.1063	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	41	8.721659	0.98929	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	.	.	.	5.25	5.25	0.73442	.	0.097562	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-33.8008	18.1868	0.89796	0.0:1.0:0.0:0.0	.	.	.	.	X	355;280;355;355	.	ENSP00000265978:E355X	E	-	1	0	FAM160A2	6200376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.620000	0.88729	0.561000	0.74099	GAA	FAM160A2	-	pfam_RetinoicA-induced_16-like	ENSG00000051009		0.527	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0	77	0	C	NM_032127		6243800	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	nonsense	21.67	47	13	SNP	1.000	A	A	6243800	C	A	6243800	4	1	13	1	0	0	0	0	0	1	0	0	5488	864	30	3	1925	3	FAM160A2	11	6243800	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	706430	6243800	128762716	393	3939											
RBMXL2	27288	genome.wustl.edu	37	chr11	7110519	7110519	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgcgttcgtcaccttTgaaagccccgcagacgccaa	8	8	10	15	5	1	2	1	1	0	1	3	2	1	2	4	1	1	3	4	1	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:7110519T>C	ENST00000306904.5	+	1	355	c.168T>C	c.(166-168)ttT>ttC	p.F56F		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	56	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCGTCACCTTTGAAAGCCCCG	0.607																																																	0													34	32	32					11																	7110519		2200	4295	6495	SO:0001819	synonymous_variant	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.168T>C	11.37:g.7110519T>C			Q6PEZ2|Q9NQU0	Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.F56	ENST00000306904.5	37	c.168	CCDS7777.1	11																																																																																			RBMXL2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000170748		0.607	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	114	0	T	NM_014469		7110519	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	5.95	79	5	SNP	1.000	C	C	7110519	T	C	7110519	2	2	13	1	0	0	0	0	0	0	0	1	13199	1809	63	4		4	RBMXL2	11	7110519	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	866719	7110519	127895997	394	3940											
STK33	65975	genome.wustl.edu	37	chr11	8494710	8494710	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttgctttctatatacCtcaatagcagctccattctc	9	17	3	12	0	4	0	2	0	2	0	6	0	5	0	2	0	4	3	2	0	5	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:8494710C>A	ENST00000447869.1	-	2	1257	c.339G>T	c.(337-339)gaG>gaT	p.E113D	STK33_ENST00000534493.1_Splice_Site_p.E72D|STK33_ENST00000396672.1_Splice_Site_p.E113D|STK33_ENST00000358872.3_Intron|STK33_ENST00000315204.1_Splice_Site_p.E113D|STK33_ENST00000396673.1_Splice_Site_p.E113D			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	113					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTCTATATACCTCAATAGCAG	0.368																																																	0													164	159	161					11																	8494710		2201	4296	6497	SO:0001630	splice_region_variant	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.339+1G>T	11.37:g.8494710C>A			Q658S6|Q8NEF5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E113D	ENST00000447869.1	37	c.339	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868951	0.51588	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;D;D;D	0.82619	1.98;1.98;1.98;1.98;1.98;-0.56;-1.63;-1.63;-1.63	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.378787	0.30101	N	0.010406	T	0.70649	0.3248	N	0.19112	0.55	0.31245	N	0.694776	B	0.28128	0.201	B	0.20767	0.031	T	0.67662	-0.5613	9	.	.	.	.	15.6269	0.76867	0.0:1.0:0.0:0.0	.	113	Q9BYT3	STK33_HUMAN	D	113;113;113;113;72;63;72;72;113	ENSP00000416750:E113D;ENSP00000320754:E113D;ENSP00000379905:E113D;ENSP00000379906:E113D;ENSP00000436418:E72D;ENSP00000436905:E63D;ENSP00000391362:E72D;ENSP00000411510:E72D;ENSP00000403599:E113D	.	E	-	3	2	STK33	8451286	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.420000	0.52735	2.545000	0.85829	0.591000	0.81541	GAG	STK33	-	superfamily_Kinase-like_dom	ENSG00000130413		0.368	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2		0	68	0	C	NM_030906	Missense_Mutation	8494710	-1			no_errors	ENST00000315204	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	8494710	C	A	8494710	5	1	13	1	0	0	0	0	0	0	1	0	15347	695	24	3	1249	3	STK33	11	8494710	Splice_Site	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1384191	8494710	126511806	395	3941											
ST5	6764	genome.wustl.edu	37	chr11	8751710	8751710	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatcgagggaactcttcGatggcagccgctgggagcta	8	7	16	10	4	1	0	0	0	1	0	3	5	1	3	1	4	3	3	1	4	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:8751710G>T	ENST00000534127.1	-	6	1512	c.1127C>A	c.(1126-1128)tCg>tAg	p.S376*	ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Nonsense_Mutation_p.S376*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S376*|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	376	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGAACTCTTCGATGGCAGCCG	0.612																																																	0													109	111	111					11																	8751710		2201	4296	6497	SO:0001587	stop_gained	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"DENN/MADD domain containing"	11350	protein-coding gene	gene with protein product	"DENN/MADD domain containing 2B"	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1127C>A	11.37:g.8751710G>T	ENSP00000433528:p.Ser376*		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S376*	ENST00000534127.1	37	c.1127	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512643	0.85389	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	.	.	.	5.32	4.41	0.53225	.	0.745603	0.13237	N	0.403192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	1.0E-4	9.9316	0.41525	0.0911:0.0:0.9089:0.0	.	.	.	.	X	376	.	ENSP00000319678:S376X	S	-	2	0	ST5	8708286	0.932000	0.31603	0.286000	0.24833	0.907000	0.53573	4.084000	0.57650	1.627000	0.50400	0.655000	0.94253	TCG	ST5	-	NULL	ENSG00000166444		0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1		0	113	0	G	NM_005418		8751710	-1			no_errors	ENST00000313726	ensembl	human	known	74_37	nonsense	7.58	61	5	SNP	0.055	T	T	8751710	G	T	8751710	4	4	13	1	0	0	0	0	0	1	0	0	15267	1059	37	2	2358	2	ST5	11	8751710	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	257000	8751710	126254806	396	3942											
MICAL2	9645	genome.wustl.edu	37	chr11	12247834	12247834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaagagatggcatctgCccaggagcctgacaagctca	12	5	13	11	0	2	2	1	1	1	1	2	4	2	3	2	3	3	3	2	3	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:12247834C>T	ENST00000256194.4	+	14	2093	c.1805C>T	c.(1804-1806)gCc>gTc	p.A602V	MICAL2_ENST00000342902.5_Missense_Mutation_p.A602V|MICAL2_ENST00000527546.1_Missense_Mutation_p.A602V|MICAL2_ENST00000379612.3_Missense_Mutation_p.A602V|MICAL2_ENST00000537344.1_Missense_Mutation_p.A602V	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	602	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATGGCATCTGCCCAGGAGCCT	0.567																																																	0													131	115	120					11																	12247834		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1805C>T	11.37:g.12247834C>T	ENSP00000256194:p.Ala602Val		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.A602V	ENST00000256194.4	37	c.1805	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	3.047	-0.196314	0.06259	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.43	5.28	3.37	0.38596	Calponin homology domain (5);	0.551375	0.18806	N	0.130657	T	0.19366	0.0465	N	0.01257	-0.925	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.001;0.003;0.001;0.003;0.001	T	0.26224	-1.0109	10	0.02654	T	1	.	10.1473	0.42771	0.0:0.7874:0.1377:0.0749	.	135;602;602;602;602;602	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	V	602;135;602;602;602;602	ENSP00000441689:A602V;ENSP00000256194:A602V;ENSP00000433965:A602V;ENSP00000344894:A602V;ENSP00000368932:A602V	ENSP00000256194:A602V	A	+	2	0	MICAL2	12204410	0.000000	0.05858	0.258000	0.24420	0.353000	0.29299	0.237000	0.17985	0.587000	0.29643	0.563000	0.77884	GCC	MICAL2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000133816		0.567	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0	53	0	C	NM_014632		12247834	1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.023	T	T	12247834	C	T	12247834	3	4	13	1	0	0	0	0	1	0	0	0	9608	739	26	3	1851	3	MICAL2	11	12247834	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3496124	12247834	122758682	397	3943											
SPTY2D1	144108	genome.wustl.edu	37	chr11	18637267	18637267	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttcactaccttgattTccactggttcaaactgcttt	8	18	4	11	0	3	1	2	1	1	0	4	1	4	1	2	1	3	2	2	1	2	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:18637267T>A	ENST00000336349.5	-	3	789	c.554A>T	c.(553-555)gAa>gTa	p.E185V	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	185										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TACCTTGATTTCCACTGGTTC	0.448																																																	0													149	147	148					11																	18637267		2199	4293	6492	SO:0001583	missense	0			BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.554A>T	11.37:g.18637267T>A	ENSP00000337991:p.Glu185Val		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	pfam_Chromatin_SPT2,smart_Chromatin_SPT2	p.E185V	ENST00000336349.5	37	c.554	CCDS31441.1	11	.	.	.	.	.	.	.	.	.	.	T	21.4	4.150809	0.78001	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.26810	1.71	5.63	5.63	0.86233	.	0.055499	0.64402	D	0.000001	T	0.48943	0.1528	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.49244	-0.8960	10	0.66056	D	0.02	-15.751	15.8291	0.78739	0.0:0.0:0.0:1.0	.	185	Q68D10	SPT2_HUMAN	V	185	ENSP00000337991:E185V	ENSP00000331447:E185V	E	-	2	0	SPTY2D1	18593843	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.071000	0.71229	2.138000	0.66242	0.460000	0.39030	GAA	SPTY2D1	-	NULL	ENSG00000179119		0.448	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTY2D1	HGNC	protein_coding	OTTHUMT00000395941.1	-	0	133	0	T	NM_194285		18637267	-1	tier1	-	no_errors	ENST00000336349	ensembl	human	known	74_37	missense	16.00	84	16	SNP	1.000	A	A	18637267	T	A	18637267	3	1	13	1	0	0	0	0	1	0	0	0	15173	1783	62	5	1519	5	SPTY2D1	11	18637267	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6389433	18637267	116369249	398	3944											
NAV2	89797	genome.wustl.edu	37	chr11	20005691	20005691	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacatgactgatggtggacTtggcctctatacccgtcgcc	8	11	10	12	2	1	2	0	2	1	0	2	3	1	3	3	3	2	0	3	3	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:20005691T>G	ENST00000396087.3	+	12	2834	c.2735T>G	c.(2734-2736)cTt>cGt	p.L912R	NAV2_ENST00000360655.4_Missense_Mutation_p.L825R|NAV2_ENST00000349880.4_Missense_Mutation_p.L889R|NAV2_ENST00000540292.1_Missense_Mutation_p.L843R|NAV2_ENST00000396085.1_Missense_Mutation_p.L889R|NAV2_ENST00000527559.2_Missense_Mutation_p.L841R|NAV2-AS3_ENST00000534036.1_RNA	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	912					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GATGGTGGACTTGGCCTCTAT	0.532																																																	0													152	144	147					11																	20005691		2203	4300	6503	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2735T>G	11.37:g.20005691T>G	ENSP00000379396:p.Leu912Arg		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L912R	ENST00000396087.3	37	c.2735	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	T	23.3	4.404275	0.83230	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.37058	1.22;1.46;1.46;1.44;1.35;1.34	5.65	5.65	0.86999	.	0.000000	0.51477	D	0.000086	T	0.49932	0.1586	L	0.43923	1.385	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.65010	0.931;0.926	T	0.40117	-0.9580	9	.	.	.	.	15.1588	0.72764	0.0:0.0:0.0:1.0	.	889;825	Q8IVL1-3;Q8IVL1-4	.;.	R	825;889;889;912;841;843	ENSP00000353871:L825R;ENSP00000379394:L889R;ENSP00000309577:L889R;ENSP00000379396:L912R;ENSP00000435395:L841R;ENSP00000443489:L843R	.	L	+	2	0	NAV2	19962267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.992000	0.76238	2.279000	0.76181	0.533000	0.62120	CTT	NAV2	-	NULL	ENSG00000166833		0.532	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	85	0	T	NM_145117		20005691	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G	G	20005691	T	G	20005691	3	3	13	1	0	0	0	0	1	0	0	0	10222	1609	56	4	2787	4	NAV2	11	20005691	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1368424	20005691	115000825	399	3945											
NELL1	4745	genome.wustl.edu	37	chr11	20948936	20948936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagtggactgctctatcGagatcaagactcttgggtag	10	11	13	7	1	3	3	1	1	2	2	4	5	3	4	0	2	1	2	0	2	3	3	rs140129150	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:20948936G>T	ENST00000357134.5	+	8	994	c.842G>T	c.(841-843)cGa>cTa	p.R281L	NELL1_ENST00000532434.1_Missense_Mutation_p.R281L|NELL1_ENST00000298925.5_Missense_Mutation_p.R309L|NELL1_ENST00000325319.5_Missense_Mutation_p.R224L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	281	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393																																																	0													127	120	123					11																	20948936		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.842G>T	11.37:g.20948936G>T	ENSP00000349654:p.Arg281Leu		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.R281L	ENST00000357134.5	37	c.842	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784172	0.90282	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.7	5.7	0.88788	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.81908	0.4922	L	0.49126	1.545	0.58432	D	0.999996	D;D;D;D	0.76494	0.998;0.999;0.994;0.999	D;D;D;D	0.85130	0.994;0.997;0.954;0.997	T	0.81484	-0.0912	10	0.54805	T	0.06	-14.2843	19.851	0.96740	0.0:0.0:1.0:0.0	.	224;309;281;281	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	L	309;281;224;281	ENSP00000298925:R309L;ENSP00000349654:R281L;ENSP00000317837:R224L;ENSP00000437170:R281L	ENSP00000298925:R309L	R	+	2	0	NELL1	20905512	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.199000	0.95003	2.687000	0.91594	0.557000	0.71058	CGA	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.393	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1		0	88	0	G	NM_006157		20948936	1			no_errors	ENST00000357134	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	20948936	G	T	20948936	3	4	13	1	0	0	0	0	1	0	0	0	10372	1058	37	2	872	2	NELL1	11	20948936	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	943245	20948936	114057580	400	3946											
ANO5	203859	genome.wustl.edu	37	chr11	22301155	22301155	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttccaaaagatgttgtGgagagaatcaagagagaaaa	18	8	12	3	0	1	4	1	0	0	4	2	8	2	5	1	1	0	2	1	1	6	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:22301155G>T	ENST00000324559.8	+	22	2903	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	862					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATGTTGTGGAGAGAATCA	0.328																																																	0													106	105	105					11																	22301155		2203	4299	6502	SO:0001819	synonymous_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2586G>T	11.37:g.22301155G>T				Silent	SNP	pfam_Anoctamin	p.V862	ENST00000324559.8	37	c.2586	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.328	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0	60	0	G	NM_213599		22301155	1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.827	T	T	22301155	G	T	22301155	2	4	13	1	0	0	0	0	0	0	0	1	700	1335	47	3		3	ANO5	11	22301155	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1352219	22301155	112705361	401	3947											
PRDM11	56981	genome.wustl.edu	37	chr11	45204671	45204671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagctggcttcttctcctgGctggtgagtgtgccctgggc	2	13	14	12	0	3	1	1	1	2	0	4	1	3	1	2	4	2	3	2	4	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:45204671G>T	ENST00000530656.1	+	4	585	c.585G>T	c.(583-585)tgG>tgT	p.W195C	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.W161C|PRDM11_ENST00000263765.4_Missense_Mutation_p.W195C			Q9NQV5	PRD11_HUMAN	PR domain containing 11	195	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCTTCTCCTGGCTGGTGAGTG	0.577											OREG0020926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(118;1511 1736 6472 36603 43224)												0													42	43	43					11																	45204671		2203	4299	6502	SO:0001583	missense	0			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"PR-domain containing protein 11"						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.585G>T	11.37:g.45204671G>T	ENSP00000435976:p.Trp195Cys	929	Q8N9F1	Missense_Mutation	SNP	pfscan_SET_dom	p.W195C	ENST00000530656.1	37	c.585		11	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747467	0.69533	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000526442;ENST00000424263	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.02	5.02	0.67125	SET domain (2);	0.000000	0.64402	D	0.000019	T	0.76471	0.3992	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81586	-0.0865	10	0.87932	D	0	-19.2598	16.509	0.84279	0.0:0.0:1.0:0.0	.	195	Q9NQV5	PRD11_HUMAN	C	195;195;161;161	ENSP00000263765:W195C;ENSP00000435976:W195C;ENSP00000431898:W161C;ENSP00000394314:W161C	ENSP00000263765:W195C	W	+	3	0	PRDM11	45161247	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.696000	0.91302	2.316000	0.78162	0.484000	0.47621	TGG	PRDM11	-	pfscan_SET_dom	ENSG00000019485		0.577	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	PRDM11	HGNC	protein_coding	OTTHUMT00000389928.1	-	0	20	0	G	NM_020229		45204671	1	tier1	-	no_errors	ENST00000263765	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T	T	45204671	G	T	45204671	3	4	13	1	0	0	0	0	1	0	0	0	12494	1212	42	3	599	3	PRDM11	11	45204671	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	22903516	45204671	89801845	402	3948											
ZNF408	79797	genome.wustl.edu	37	chr11	46724278	46724278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcattaggcccatggggaGacgtgtgtgcctgtgagcag	7	10	16	8	1	1	2	1	1	0	1	1	3	1	2	2	3	2	1	2	3	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:46724278G>C	ENST00000311764.2	+	3	585	c.355G>C	c.(355-357)Gac>Cac	p.D119H	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCATGGGGAGACGTGTGTGC	0.468																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													258	248	251					11																	46724278		2201	4299	6500	SO:0001583	missense	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.355G>C	11.37:g.46724278G>C	ENSP00000309606:p.Asp119His			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D119H	ENST00000311764.2	37	c.355	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260639	0.39995	.	.	ENSG00000175213	ENST00000311764	T	0.10382	2.88	5.06	4.14	0.48551	.	0.362815	0.19711	N	0.107809	T	0.18341	0.0440	M	0.65975	2.015	0.23144	N	0.998221	D;D	0.56746	0.977;0.977	P;P	0.49708	0.62;0.62	T	0.07947	-1.0746	10	0.72032	D	0.01	-15.2848	8.869	0.35305	0.0992:0.0:0.9008:0.0	.	111;119	B4DXY4;Q9H9D4	.;ZN408_HUMAN	H	119	ENSP00000309606:D119H	ENSP00000309606:D119H	D	+	1	0	ZNF408	46680854	0.809000	0.29036	0.741000	0.31004	0.108000	0.19459	1.107000	0.31110	1.362000	0.46000	0.655000	0.94253	GAC	ZNF408	-	NULL	ENSG00000175213		0.468	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0	146	0	G	NM_024741		46724278	1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	13.48	77	12	SNP	0.630	C	C	46724278	G	C	46724278	3	2	13	1	0	0	0	0	1	0	0	0	17936	942	33	5	397	5	ZNF408	11	46724278	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1519607	46724278	88282238	403	3949											
ACP2	53	genome.wustl.edu	37	chr11	47269238	47269238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccgtgatagcgctgcCgcagggcctggcccagttcc	6	6	15	14	3	0	1	0	1	0	0	1	2	1	2	5	3	3	3	5	3	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:47269238C>T	ENST00000256997.3	-	3	367	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	NR1H3_ENST00000395397.3_5'Flank|ACP2_ENST00000529444.1_Missense_Mutation_p.R84Q|ACP2_ENST00000527256.1_Missense_Mutation_p.R52Q|ACP2_ENST00000537863.1_5'UTR|NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000444355.2_Missense_Mutation_p.R84Q|ACP2_ENST00000530453.1_Missense_Mutation_p.R84Q|ACP2_ENST00000525230.1_5'Flank|NR1H3_ENST00000405576.1_5'Flank|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.R84Q|ACP2_ENST00000533929.1_Missense_Mutation_p.R56Q	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	84					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						ATAGCGCTGCCGCAGGGCCTG	0.582																																					Melanoma(90;262 1440 11488 44828 48531)												0													89	79	82					11																	47269238		2201	4298	6499	SO:0001583	missense	0			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.251G>A	11.37:g.47269238C>T	ENSP00000256997:p.Arg84Gln		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.R84Q	ENST00000256997.3	37	c.251	CCDS7928.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.625775	0.96671	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355;ENST00000529788	T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.53	5.53	0.82687	.	0.051511	0.85682	D	0.000000	T	0.76557	0.4004	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77557	0.874;0.919;0.985;0.959;0.99	T	0.81990	-0.0679	10	0.87932	D	0	.	19.076	0.93161	0.0:1.0:0.0:0.0	.	84;84;52;56;84	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;P11117	.;.;.;.;PPAL_HUMAN	Q	84;84;52;56;84;84;84;84	ENSP00000256997:R84Q;ENSP00000436658:R84Q;ENSP00000432205:R52Q;ENSP00000432439:R56Q;ENSP00000436487:R84Q;ENSP00000434205:R84Q;ENSP00000414911:R84Q;ENSP00000436828:R84Q	ENSP00000256997:R84Q	R	-	2	0	ACP2	47225814	0.993000	0.37304	1.000000	0.80357	0.958000	0.62258	3.137000	0.50562	2.596000	0.87737	0.655000	0.94253	CGG	ACP2	-	pfam_His_Pase_superF_clade-2	ENSG00000134575		0.582	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP2	HGNC	protein_coding	OTTHUMT00000392022.2	-	0	89	0	C	NM_001610		47269238	-1	tier1	-	no_errors	ENST00000256997	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.994	T	T	47269238	C	T	47269238	3	4	13	1	0	0	0	0	1	0	0	0	163	652	23	1	1089	1	ACP2	11	47269238	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	544960	47269238	87737278	404	3950											
MYBPC3	4607	genome.wustl.edu	37	chr11	47364601	47364601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctccgtgctacacttcTcgccacccaccacgcactgg	8	7	8	18	3	1	1	0	0	1	1	3	1	2	1	4	1	3	3	4	1	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:47364601T>C	ENST00000545968.1	-	15	1376	c.1322A>G	c.(1321-1323)gAg>gGg	p.E441G	MYBPC3_ENST00000256993.4_Missense_Mutation_p.E440G|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E441G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	441	Ig-like C2-type 2.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCTACACTTCTCGCCACCCAC	0.607																																																	0													51	55	54					11																	47364601		2138	4244	6382	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1322A>G	11.37:g.47364601T>C	ENSP00000442795:p.Glu441Gly		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E441G	ENST00000545968.1	37	c.1322	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210738	0.58343	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.41065	1.01;1.01;1.01	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53174	0.1780	L	0.47190	1.495	0.58432	D	0.99999	D	0.56968	0.978	P	0.59825	0.864	T	0.57318	-0.7832	9	0.87932	D	0	.	14.0261	0.64586	0.0:0.0:0.0:1.0	.	440	Q14896	MYPC3_HUMAN	G	441;441;440	ENSP00000442795:E441G;ENSP00000382193:E441G;ENSP00000256993:E440G	ENSP00000256993:E440G	E	-	2	0	MYBPC3	47321177	1.000000	0.71417	0.965000	0.40720	0.009000	0.06853	7.273000	0.78527	1.982000	0.57802	0.379000	0.24179	GAG	MYBPC3	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000134571		0.607	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	78	0	T			47364601	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	C	C	47364601	T	C	47364601	3	2	13	1	0	0	0	0	1	0	0	0	10051	1551	54	4	2582	4	MYBPC3	11	47364601	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	95363	47364601	87641915	405	3951											
PTPRJ	5795	genome.wustl.edu	37	chr11	48134407	48134407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcataaacagaatggaactgGaacacctcaggtggaaacaa	18	6	9	8	0	2	1	2	0	0	1	2	4	2	4	1	4	4	0	1	4	7	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:48134407G>T	ENST00000418331.2	+	3	576	c.224G>T	c.(223-225)gGa>gTa	p.G75V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G75V|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	75					contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AATGGAACTGGAACACCTCAG	0.468																																																	0													112	106	108					11																	48134407		2201	4298	6499	SO:0001583	missense	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.224G>T	11.37:g.48134407G>T	ENSP00000400010:p.Gly75Val		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G75V	ENST00000418331.2	37	c.224	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	7.230	0.599109	0.13939	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000527952	T;T	0.44881	2.39;0.91	1.98	-0.0539	0.13816	.	.	.	.	.	T	0.25865	0.0630	N	0.08118	0	0.09310	N	1	P;D	0.62365	0.767;0.991	B;P	0.49387	0.176;0.609	T	0.12016	-1.0564	9	0.59425	D	0.04	.	4.3179	0.11002	0.3834:0.0:0.6166:0.0	.	75;75	Q12913;Q6P4H4	PTPRJ_HUMAN;.	V	75	ENSP00000400010:G75V;ENSP00000409733:G75V	ENSP00000278456:G75V	G	+	2	0	PTPRJ	48090983	0.004000	0.15560	0.000000	0.03702	0.038000	0.13279	0.539000	0.23175	-0.020000	0.14032	0.205000	0.17691	GGA	PTPRJ	-	NULL	ENSG00000149177		0.468	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	-	0	85	0	G			48134407	1	tier1	-	no_errors	ENST00000418331	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T	T	48134407	G	T	48134407	3	4	13	1	0	0	0	0	1	0	0	0	12849	1174	41	3	234	3	PTPRJ	11	48134407	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	769806	48134407	86872109	406	3952											
FOLH1	2346	genome.wustl.edu	37	chr11	49227684	49227684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcatattatgctttggAgtaatgttagtagcttcatt	9	19	8	5	0	2	0	2	0	0	0	2	1	2	1	0	1	2	6	0	1	5	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:49227684A>G	ENST00000256999.2	-	2	419	c.159T>C	c.(157-159)acT>acC	p.T53T	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.T38T|FOLH1_ENST00000356696.3_Silent_p.T53T|FOLH1_ENST00000340334.7_Silent_p.T38T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	53					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TATGCTTTGGAGTAATGTTAG	0.328																																																	0													51	55	54					11																	49227684		2198	4285	6483	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.159T>C	11.37:g.49227684A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.T53	ENST00000256999.2	37	c.159	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.328	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	119	0	A	NM_004476		49227684	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	28.28	71	28	SNP	0.007	G	G	49227684	A	G	49227684	2	3	13	1	0	0	0	0	0	0	0	1	6001	291	11	4		4	FOLH1	11	49227684	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1093277	49227684	85778832	407	3953											
OR4S2	219431	genome.wustl.edu	37	chr11	55418905	55418905	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaatgagatagatcactacTtttgtgatgttcaccctgtg	10	14	8	9	0	2	3	2	2	0	2	2	4	2	3	2	0	1	1	2	0	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:55418905T>A	ENST00000312422.2	+	1	526	c.526T>A	c.(526-528)Ttt>Att	p.F176I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGATCACTACTTTTGTGATGT	0.458																																																	0													258	197	218					11																	55418905		2182	4043	6225	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"GPCR / Class A : Olfactory receptors"	15183	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily S, member 2 pseudogene"	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.526T>A	11.37:g.55418905T>A	ENSP00000310337:p.Phe176Ile		Q6IF72	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F176I	ENST00000312422.2	37	c.526	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767793	0.69878	.	.	ENSG00000174982	ENST00000312422	T	0.00220	8.52	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00580	0.0019	M	0.85041	2.73	0.36600	D	0.874604	D	0.71674	0.998	D	0.70227	0.968	T	0.79145	-0.1924	10	0.30078	T	0.28	.	13.8976	0.63783	0.0:0.0:0.0:1.0	.	176	Q8NH73	OR4S2_HUMAN	I	176	ENSP00000310337:F176I	ENSP00000310337:F176I	F	+	1	0	OR4S2	55175481	0.025000	0.19082	1.000000	0.80357	0.996000	0.88848	2.197000	0.42696	1.964000	0.57103	0.443000	0.29094	TTT	OR4S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000174982		0.458	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	-	0	34	0	T	NM_001004059		55418905	1	tier1	-	no_errors	ENST00000312422	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	55418905	T	A	55418905	3	1	13	1	0	0	0	0	1	0	0	0	11122	1609	56	5	528	5	OR4S2	11	55418905	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6191221	55418905	79587611	408	3954											
OR8H3	390152	genome.wustl.edu	37	chr11	55890329	55890329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggactcctttgtcaatgtgGtttccatgagcagattgcat	8	15	10	8	0	1	2	1	1	0	1	3	3	3	3	2	2	2	3	2	2	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:55890329G>C	ENST00000313472.3	+	1	481	c.481G>C	c.(481-483)Gtt>Ctt	p.V161L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTCAATGTGGTTTCCATGAG	0.438																																																	0													238	211	220					11																	55890329		2201	4296	6497	SO:0001583	missense	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.481G>C	11.37:g.55890329G>C	ENSP00000323928:p.Val161Leu		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V161L	ENST00000313472.3	37	c.481	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.805540	0.00606	.	.	ENSG00000181761	ENST00000313472	T	0.34859	1.34	3.62	-7.23	0.01480	GPCR, rhodopsin-like superfamily (1);	0.540237	0.15052	N	0.283278	T	0.10981	0.0268	N	0.04275	-0.24	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.11421	-1.0588	10	0.25751	T	0.34	.	4.1865	0.10400	0.084:0.2089:0.4234:0.2837	.	161	Q8N146	OR8H3_HUMAN	L	161	ENSP00000323928:V161L	ENSP00000323928:V161L	V	+	1	0	OR8H3	55646905	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-1.044000	0.03532	-1.767000	0.01300	0.173000	0.16961	GTT	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181761		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	40	0	G	NM_001005201		55890329	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.000	C	C	55890329	G	C	55890329	3	2	13	1	0	0	0	0	1	0	0	0	11278	1261	44	5	483	5	OR8H3	11	55890329	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	471424	55890329	79116187	409	3955											
OR5T2	219464	genome.wustl.edu	37	chr11	56000497	56000497	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaagattgtctgtgaaGcccttcagtacaaataaggt	13	12	9	7	0	3	2	2	1	1	1	3	2	3	2	1	1	2	2	1	1	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:56000497G>T	ENST00000313264.4	-	1	240	c.165C>A	c.(163-165)ggC>ggA	p.G55G		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCTGTGAAGCCCTTCAGTA	0.353																																																	0													69	60	63					11																	56000497		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.165C>A	11.37:g.56000497G>T			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G55	ENST00000313264.4	37	c.165	CCDS31523.1	11																																																																																			OR5T2	-	NULL	ENSG00000181718		0.353	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1		0	43	0	G	NM_001004746		56000497	-1			no_errors	ENST00000313264	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.464	T	T	56000497	G	T	56000497	2	4	13	1	0	0	0	0	0	0	0	1	11221	958	34	3		3	OR5T2	11	56000497	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	110168	56000497	79006019	410	3956											
OR8J1	219477	genome.wustl.edu	37	chr11	56128335	56128335	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtctttatatctgcagcaAcaaatgtggttggttccttg	8	17	9	7	0	2	0	0	0	2	0	3	0	3	0	1	2	3	4	1	2	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:56128335A>C	ENST00000303039.3	+	1	645	c.613A>C	c.(613-615)Aca>Cca	p.T205P		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATCTGCAGCAACAAATGTGGT	0.294																																																	0													169	157	161					11																	56128335		2201	4296	6497	SO:0001583	missense	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.613A>C	11.37:g.56128335A>C	ENSP00000304060:p.Thr205Pro		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T205P	ENST00000303039.3	37	c.613	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662662	0.29515	.	.	ENSG00000172487	ENST00000303039	T	0.37915	1.17	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.182272	0.39274	N	0.001410	T	0.34948	0.0915	N	0.25060	0.705	0.23665	N	0.997161	P	0.49961	0.93	P	0.57720	0.826	T	0.09885	-1.0654	10	0.87932	D	0	.	4.8208	0.13390	0.6239:0.1914:0.0:0.1848	.	205	Q8NGP2	OR8J1_HUMAN	P	205	ENSP00000304060:T205P	ENSP00000304060:T205P	T	+	1	0	OR8J1	55884911	0.000000	0.05858	0.990000	0.47175	0.205000	0.24178	-0.377000	0.07456	1.772000	0.52199	0.448000	0.29417	ACA	OR8J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172487		0.294	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	-	0	38	0	A	NM_001005205		56128335	1	tier1	-	no_errors	ENST00000303039	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.677	C	C	56128335	A	C	56128335	3	2	13	1	0	0	0	0	1	0	0	0	11280	43	2	4	615	4	OR8J1	11	56128335	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	127838	56128335	78878181	411	3957											
OR4D6	219983	genome.wustl.edu	37	chr11	59224556	59224556	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtagcaacagtcctgggAaatgcactcattgtggtcac	11	11	10	9	0	2	0	2	0	0	0	3	1	3	1	1	2	3	3	1	2	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:59224556A>G	ENST00000300127.2	+	1	146	c.123A>G	c.(121-123)ggA>ggG	p.G41G		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CAGTCCTGGGAAATGCACTCA	0.448																																																	0													203	180	188					11																	59224556		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"GPCR / Class A : Olfactory receptors"	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.123A>G	11.37:g.59224556A>G			B2RNP7|Q6IFF5|Q96R74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41	ENST00000300127.2	37	c.123	CCDS31562.1	11																																																																																			OR4D6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000166884		0.448	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	-	0	48	0	A	NM_001004708		59224556	1	tier1	-	no_errors	ENST00000300127	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.274	G	G	59224556	A	G	59224556	2	3	13	1	0	0	0	0	0	0	0	1	11097	233	9	4		4	OR4D6	11	59224556	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3096221	59224556	75781960	412	3958											
MS4A14	84689	genome.wustl.edu	37	chr11	60183454	60183454	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacaaaccatgccatctaAgtctacatcatcccatgtca	15	9	4	13	0	4	1	2	0	2	1	5	1	5	1	3	0	4	0	3	0	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:60183454A>C	ENST00000300187.6	+	5	1290	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	MS4A14_ENST00000395005.2_Missense_Mutation_p.K321T|MS4A14_ENST00000531783.1_Missense_Mutation_p.K371T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.K226T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	338						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATGCCATCTAAGTCTACATCA	0.453																																																	0													126	107	114					11																	60183454		2203	4300	6503	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1013A>C	11.37:g.60183454A>C	ENSP00000300187:p.Lys338Thr		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.K338T	ENST00000300187.6	37	c.1013	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	A	8.590	0.884464	0.17467	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37058	1.23;2.43;1.22;2.76	3.5	-3.74	0.04385	.	8.767720	0.00166	N	0.000000	T	0.25531	0.0621	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.06405	0.002;0.001	T	0.25187	-1.0139	10	0.72032	D	0.01	0.0075	5.9054	0.18998	0.4252:0.3949:0.1799:0.0	.	321;338	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	226;338;321;371	ENSP00000437222:K226T;ENSP00000300187:K338T;ENSP00000378453:K321T;ENSP00000433761:K371T	ENSP00000300187:K338T	K	+	2	0	MS4A14	59940030	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.007000	0.13174	-1.282000	0.02396	-2.495000	0.00193	AAG	MS4A14	-	NULL	ENSG00000166928		0.453	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2		0	39	0	A			60183454	1			no_errors	ENST00000300187	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	C	C	60183454	A	C	60183454	3	2	13	1	0	0	0	0	1	0	0	0	9896	72	3	4	1031	4	MS4A14	11	60183454	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	958898	60183454	74823062	413	3959											
INCENP	3619	genome.wustl.edu	37	chr11	61896307	61896307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaaccgacggaagaagaGacggatttcttatgttcagg	14	8	13	6	3	2	3	1	0	1	3	2	8	2	5	1	3	1	1	1	3	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:61896307G>A	ENST00000394818.3	+	3	408	c.206G>A	c.(205-207)aGa>aAa	p.R69K	INCENP_ENST00000278849.4_Missense_Mutation_p.R69K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	69					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGGAAGAAGAGACGGATTTCT	0.532																																																	0													87	81	83					11																	61896307		2202	4299	6501	SO:0001583	missense	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.206G>A	11.37:g.61896307G>A	ENSP00000378295:p.Arg69Lys		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R69K	ENST00000394818.3	37	c.206	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	G	8.799	0.932364	0.18131	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.19250	2.83;2.16;2.85	5.93	3.72	0.42706	.	0.214190	0.33040	N	0.005349	T	0.12944	0.0314	L	0.34521	1.04	0.30340	N	0.785769	B;B;B	0.17038	0.02;0.009;0.005	B;B;B	0.17722	0.019;0.006;0.003	T	0.13282	-1.0515	10	0.18710	T	0.47	.	5.4572	0.16598	0.3012:0.0:0.6988:0.0	.	69;69;69	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	K	69	ENSP00000378295:R69K;ENSP00000433100:R69K;ENSP00000278849:R69K	ENSP00000278849:R69K	R	+	2	0	INCENP	61652883	0.992000	0.36948	0.935000	0.37517	0.991000	0.79684	1.094000	0.30951	1.383000	0.46405	0.655000	0.94253	AGA	INCENP	-	NULL	ENSG00000149503		0.532	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	-	0	70	0	G	NM_020238		61896307	1	tier1	-	no_errors	ENST00000394818	ensembl	human	known	74_37	missense	21.67	47	13	SNP	0.994	A	A	61896307	G	A	61896307	3	1	13	1	0	0	0	0	1	0	0	0	7760	942	33	3	212	3	INCENP	11	61896307	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1712853	61896307	73110209	414	3960											
POLA2	23649	genome.wustl.edu	37	chr11	65043451	65043451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccatcagctactctcacCgtcaagtttctctccaaggt	8	11	5	17	1	4	0	3	0	2	0	7	0	5	0	4	1	2	2	4	1	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65043451C>T	ENST00000265465.3	+	5	974	c.443C>T	c.(442-444)cCg>cTg	p.P148L	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	148	Pro/Ser/Thr-rich.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTACTCTCACCGTCAAGTTTC	0.493																																																	0													129	111	117					11																	65043451		2201	4297	6498	SO:0001583	missense	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.443C>T	11.37:g.65043451C>T	ENSP00000265465:p.Pro148Leu		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.P148L	ENST00000265465.3	37	c.443	CCDS8098.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610170	0.87258	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.29142	1.58	5.71	5.71	0.89125	DNA polymerase alpha, subunit B N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.58312	-0.7658	10	0.87932	D	0	-15.1864	17.3707	0.87376	0.0:1.0:0.0:0.0	.	108;148	E9PIQ6;Q14181	.;DPOA2_HUMAN	L	148;108	ENSP00000265465:P148L	ENSP00000265465:P148L	P	+	2	0	POLA2	64800027	0.999000	0.42202	0.306000	0.25113	0.982000	0.71751	6.075000	0.71261	2.712000	0.92718	0.650000	0.86243	CCG	POLA2	-	pfam_Pol_alpha_B_N,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.493	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	-	0	101	0	C	NM_002689		65043451	1	tier1	-	no_errors	ENST00000265465	ensembl	human	known	74_37	missense	17.14	58	12	SNP	0.993	T	T	65043451	C	T	65043451	3	4	13	1	0	0	0	0	1	0	0	0	12227	652	23	1	461	1	POLA2	11	65043451	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3147144	65043451	69963065	415	3961											
TIGD3	220359	genome.wustl.edu	37	chr11	65123463	65123463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcggactggtgcagcGgcacagccaaccgagagcgc	8	4	16	13	4	0	1	0	0	0	1	0	3	0	2	2	4	6	3	2	4	1	0	rs142471374		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:65123463G>A	ENST00000309880.5	+	2	391	c.184G>A	c.(184-186)Ggc>Agc	p.G62S		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	62						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CTGGTGCAGCGGCACAGCCAA	0.642																																																	0								G	SER/GLY	0,4402		0,0,2201	65	76	72		184	4.9	1	11	dbSNP_134	72	2,8592	2.2+/-6.3	0,2,4295	no	missense	TIGD3	NM_145719.2	56	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	62/472	65123463	2,12994	2201	4297	6498	SO:0001583	missense	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.184G>A	11.37:g.65123463G>A	ENSP00000308354:p.Gly62Ser			Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G62S	ENST00000309880.5	37	c.184	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430261	0.62844	0.0	2.33E-4	ENSG00000173825	ENST00000309880	T	0.42131	0.98	4.94	4.94	0.65067	Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.32935	N	0.005471	T	0.42494	0.1205	N	0.14661	0.345	0.35487	D	0.798686	D	0.89917	1.0	D	0.85130	0.997	T	0.30238	-0.9985	10	0.07644	T	0.81	-19.8272	14.0797	0.64912	0.0:0.0:1.0:0.0	.	62	Q6B0B8	TIGD3_HUMAN	S	62	ENSP00000308354:G62S	ENSP00000308354:G62S	G	+	1	0	TIGD3	64880039	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	3.315000	0.51951	2.471000	0.83476	0.456000	0.33151	GGC	TIGD3	-	superfamily_Homeodomain-like	ENSG00000173825		0.642	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1	-	0	72	0	G	NM_145719		65123463	1	tier1	rs142471374	no_errors	ENST00000309880	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	65123463	G	A	65123463	3	1	13	1	0	0	0	0	1	0	0	0	15944	1116	39	1	186	1	TIGD3	11	65123463	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	80012	65123463	69883053	416	3962											
RNF169	254225	genome.wustl.edu	37	chr11	74546847	74546847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagactccctgatggccGtgtgctaagtcctctcatca	9	10	9	13	1	2	2	2	1	1	1	5	3	4	2	3	1	1	1	3	1	2	1	rs561891285		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:74546847G>A	ENST00000299563.4	+	6	1212	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	400					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CCTGATGGCCGTGTGCTAAGT	0.498													G|||	1	0.000199681	0	0	5008	,	,		20024	0		0	False		,,,				2504	0.001																0													152	157	155					11																	74546847		2008	4186	6194	SO:0001583	missense	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1199G>A	11.37:g.74546847G>A	ENSP00000299563:p.Arg400His		Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R400H	ENST00000299563.4	37	c.1199	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314956	0.81358	.	.	ENSG00000166439	ENST00000299563	T	0.60797	0.16	5.99	5.99	0.97316	.	0.050987	0.85682	D	0.000000	T	0.74359	0.3706	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.76727	-0.2853	10	0.87932	D	0	-21.7865	11.2648	0.49104	0.0823:0.0:0.9177:0.0	.	400	Q8NCN4	RN169_HUMAN	H	400	ENSP00000299563:R400H	ENSP00000299563:R400H	R	+	2	0	RNF169	74224495	1.000000	0.71417	0.985000	0.45067	0.999000	0.98932	5.232000	0.65332	2.847000	0.97988	0.655000	0.94253	CGT	RNF169	-	NULL	ENSG00000166439		0.498	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1		0	76	0	G	XM_495886		74546847	1			no_errors	ENST00000299563	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.997	A	A	74546847	G	A	74546847	3	1	13	1	0	0	0	0	1	0	0	0	13505	1145	40	1	1221	1	RNF169	11	74546847	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	9423384	74546847	60459669	417	3963											
XRRA1	143570	genome.wustl.edu	37	chr11	74632295	74632295	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgggcggcagggaggtaAggccattgcctgtgaggagc	9	7	18	7	1	0	1	0	1	0	0	0	3	0	3	2	6	2	2	2	6	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:74632295A>C	ENST00000340360.6	-	8	927	c.596T>G	c.(595-597)cTt>cGt	p.L199R	XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.L199R	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGGGAGGTAAGGCCATTGCC	0.517																																																	0													77	81	80					11																	74632295		1996	4166	6162	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.596T>G	11.37:g.74632295A>C	ENSP00000339918:p.Leu199Arg			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L199R	ENST00000340360.6	37	c.596	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.941575	0.73557	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.69306	1.29;-0.39;-0.23	5.02	5.02	0.67125	.	0.260987	0.31936	N	0.006833	T	0.76723	0.4027	L	0.54323	1.7	0.44454	D	0.997387	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78848	-0.2042	10	0.87932	D	0	-16.8375	11.4252	0.50007	1.0:0.0:0.0:0.0	.	199;199	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	R	199;199;199;199;207	ENSP00000339918:L199R;ENSP00000435838:L199R;ENSP00000437334:L207R	ENSP00000339918:L199R	L	-	2	0	XRRA1	74309943	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.850000	0.62889	2.018000	0.59344	0.533000	0.62120	CTT	XRRA1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000166435		0.517	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0	47	0	A	NM_182969		74632295	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	C	C	74632295	A	C	74632295	3	2	13	1	0	0	0	0	1	0	0	0	17510	72	3	4	1830	4	XRRA1	11	74632295	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	85448	74632295	60374221	418	3964											
CCDC89	220388	genome.wustl.edu	37	chr11	85396707	85396707	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctattctccagcctcagcTtctcattctcctccctcagc	5	14	4	18	0	5	0	3	0	3	0	9	0	6	0	4	0	4	2	4	0	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:85396707T>G	ENST00000316398.3	-	1	613	c.467A>C	c.(466-468)aAg>aCg	p.K156T	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	156						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGCCTCAGCTTCTCATTCTC	0.532																																																	0													90	85	86					11																	85396707		2203	4299	6502	SO:0001583	missense	0			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.467A>C	11.37:g.85396707T>G	ENSP00000320649:p.Lys156Thr			Missense_Mutation	SNP	NULL	p.K156T	ENST00000316398.3	37	c.467	CCDS8270.1	11	.	.	.	.	.	.	.	.	.	.	t	11.73	1.726984	0.30593	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	3.3	0.37823	.	0.493589	0.18898	N	0.128118	T	0.29684	0.0741	L	0.53249	1.67	0.24081	N	0.995946	P	0.37276	0.589	B	0.39027	0.288	T	0.17561	-1.0365	8	.	.	.	-21.7925	2.9618	0.05895	0.2388:0.2988:0.0:0.4625	.	156	Q8N998	CCD89_HUMAN	T	156	.	.	K	-	2	0	CCDC89	85074355	0.000000	0.05858	0.997000	0.53966	0.650000	0.38633	-0.944000	0.03913	0.983000	0.38602	0.529000	0.55759	AAG	CCDC89	-	NULL	ENSG00000179071		0.532	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC89	HGNC	protein_coding	OTTHUMT00000392182.1	-	0	34	0	T	NM_152723		85396707	-1	tier1	-	no_errors	ENST00000316398	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.996	G	G	85396707	T	G	85396707	3	3	13	1	0	0	0	0	1	0	0	0	2873	1609	56	4	661	4	CCDC89	11	85396707	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	10764412	85396707	49609809	419	3965											
FAT3	120114	genome.wustl.edu	37	chr11	92570848	92570848	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgtctggatactctctgcTtgtccaggccgtagacagtg	6	12	13	10	1	2	1	0	0	2	1	4	2	3	2	2	3	2	2	2	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:92570848T>G	ENST00000298047.6	+	16	10261	c.10244T>G	c.(10243-10245)cTt>cGt	p.L3415R	FAT3_ENST00000409404.2_Missense_Mutation_p.L3415R|FAT3_ENST00000525166.1_Missense_Mutation_p.L3265R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3415	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACTCTCTGCTTGTCCAGGCC	0.483										TCGA Ovarian(4;0.039)																																							0													116	117	117					11																	92570848		1976	4163	6139	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10244T>G	11.37:g.92570848T>G	ENSP00000298047:p.Leu3415Arg		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3415R	ENST00000298047.6	37	c.10244		11	.	.	.	.	.	.	.	.	.	.	T	12.32	1.903550	0.33628	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01787	4.64;4.64;4.64	4.79	4.79	0.61399	.	.	.	.	.	T	0.01661	0.0053	N	0.11000	0.08	0.80722	D	1	P	0.44195	0.828	P	0.44518	0.452	T	0.75448	-0.3314	9	0.14252	T	0.57	.	14.8216	0.70077	0.0:0.0:0.0:1.0	.	3415	Q8TDW7-3	.	R	3415;3415;3265	ENSP00000298047:L3415R;ENSP00000387040:L3415R;ENSP00000432586:L3265R	ENSP00000298047:L3415R	L	+	2	0	FAT3	92210496	0.312000	0.24545	0.919000	0.36401	0.898000	0.52572	3.559000	0.53756	2.141000	0.66446	0.528000	0.53228	CTT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.483	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	63	0	T	NM_001008781		92570848	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.787	G	G	92570848	T	G	92570848	3	3	13	1	0	0	0	0	1	0	0	0	5713	1609	56	4	10306	4	FAT3	11	92570848	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	7174141	92570848	42435668	420	3966											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103041643	103041643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaagtcaatgggacgaaTatttgttggtttggtgaagt	10	15	14	2	1	1	2	1	2	0	0	1	4	1	3	0	3	0	2	0	3	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103041643T>C	ENST00000375735.2	+	34	5324	c.5180T>C	c.(5179-5181)aTa>aCa	p.I1727T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I1727T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1727	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGGGACGAATATTTGTTGGT	0.338																																																	0													208	183	190					11																	103041643		1831	4089	5920	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5180T>C	11.37:g.103041643T>C	ENSP00000364887:p.Ile1727Thr		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I1727T	ENST00000375735.2	37	c.5180	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156992	0.78114	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.14144	2.53;2.53	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	0.765907	0.10889	N	0.622946	T	0.44685	0.1305	M	0.86097	2.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.36114	-0.9761	10	0.87932	D	0	.	14.8623	0.70389	0.0:0.0:0.0:1.0	.	1727;1727	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	1727	ENSP00000364887:I1727T;ENSP00000381167:I1727T	ENSP00000364887:I1727T	I	+	2	0	DYNC2H1	102546853	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.993000	0.88291	1.970000	0.57323	0.528000	0.53228	ATA	DYNC2H1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	58	0	T	XM_370652		103041643	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	C	C	103041643	T	C	103041643	3	2	13	1	0	0	0	0	1	0	0	0	4860	1406	49	4	5314	4	DYNC2H1	11	103041643	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	10470795	103041643	31964873	421	3967											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103044834	103044834	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggggtttgagagctttgaAgacagttctgagaggaagtg	10	12	16	3	0	1	4	0	3	1	3	1	7	1	5	0	3	1	3	0	3	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103044834A>C	ENST00000375735.2	+	36	5753	c.5609A>C	c.(5608-5610)aAg>aCg	p.K1870T	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K1870T|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1870	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGCTTTGAAGACAGTTCTG	0.358																																																	0													88	81	83					11																	103044834		1846	4099	5945	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5609A>C	11.37:g.103044834A>C	ENSP00000364887:p.Lys1870Thr		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1870T	ENST00000375735.2	37	c.5609	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360023	0.82353	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.14266	2.52;2.52	5.87	4.72	0.59763	.	.	.	.	.	T	0.48484	0.1502	H	0.95470	3.675	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.60551	-0.7241	9	0.54805	T	0.06	.	12.3221	0.54991	0.8731:0.0:0.0:0.1268	.	1870;1870	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	T	1870	ENSP00000364887:K1870T;ENSP00000381167:K1870T	ENSP00000364887:K1870T	K	+	2	0	DYNC2H1	102550044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.228000	0.95250	1.008000	0.39264	0.477000	0.44152	AAG	DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.358	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	105	0	A	XM_370652		103044834	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	21.05	75	20	SNP	1.000	C	C	103044834	A	C	103044834	3	2	13	1	0	0	0	0	1	0	0	0	4860	72	3	4	5751	4	DYNC2H1	11	103044834	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3191	103044834	31961682	422	3968											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103092848	103092848	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagagagtgttgaagaacTtctttttaaaaataaaggct	17	12	9	3	0	1	4	0	1	1	3	1	5	1	4	0	1	1	2	0	1	8	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:103092848T>G	ENST00000375735.2	+	58	9341	c.9197T>G	c.(9196-9198)cTt>cGt	p.L3066R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3066R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3066	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTGAAGAACTTCTTTTTAAA	0.274																																																	0													40	40	40					11																	103092848		1792	4046	5838	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9197T>G	11.37:g.103092848T>G	ENSP00000364887:p.Leu3066Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3066R	ENST00000375735.2	37	c.9197	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837915	0.71373	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.42131	0.98;1.56	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.148055	0.47455	D	0.000233	T	0.69646	0.3134	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.72567	-0.4254	10	0.39692	T	0.17	.	15.5573	0.76208	0.0:0.0:0.0:1.0	.	3066;3066	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	3066	ENSP00000364887:L3066R;ENSP00000381167:L3066R	ENSP00000364887:L3066R	L	+	2	0	DYNC2H1	102598058	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.611000	0.82962	2.371000	0.80710	0.533000	0.62120	CTT	DYNC2H1	-	NULL	ENSG00000187240		0.274	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	163	0	T	XM_370652		103092848	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	25.89	83	29	SNP	1.000	G	G	103092848	T	G	103092848	3	3	13	1	0	0	0	0	1	0	0	0	4860	1609	56	4	9427	4	DYNC2H1	11	103092848	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	48014	103092848	31913668	423	3969											
GRIA4	2893	genome.wustl.edu	37	chr11	105795332	105795332	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattggtgtcagcgtggtcTtattcctagttagtagattt	8	17	10	6	1	2	1	1	0	1	1	3	1	3	1	1	2	1	2	1	2	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:105795332T>G	ENST00000530497.1	+	11	1684	c.1684T>G	c.(1684-1686)Tta>Gta	p.L562V	GRIA4_ENST00000282499.5_Missense_Mutation_p.L562V|GRIA4_ENST00000393127.2_Missense_Mutation_p.L562V|GRIA4_ENST00000525187.1_Missense_Mutation_p.L562V			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	562					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAGCGTGGTCTTATTCCTAGT	0.483																																																	0													184	160	168					11																	105795332		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1684T>G	11.37:g.105795332T>G	ENSP00000435775:p.Leu562Val		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L562V	ENST00000530497.1	37	c.1684	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004132	0.74932	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.55	4.42	0.53409	Ionotropic glutamate receptor (2);	0.000000	0.53938	D	0.000056	T	0.67306	0.2879	M	0.77103	2.36	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.85130	0.985;0.997	T	0.70487	-0.4858	10	0.87932	D	0	.	4.704	0.12841	0.0:0.266:0.0:0.734	.	562;562	P48058;G3V164	GRIA4_HUMAN;.	V	562	ENSP00000282499:L562V;ENSP00000376835:L562V;ENSP00000435775:L562V;ENSP00000432180:L562V	ENSP00000282499:L562V	L	+	1	2	GRIA4	105300542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.215000	0.51169	2.237000	0.73441	0.528000	0.53228	TTA	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.483	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0	32	0	T			105795332	1	tier1	-	no_errors	ENST00000282499	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	G	G	105795332	T	G	105795332	3	3	13	1	0	0	0	0	1	0	0	0	6797	1606	56	4	1763	4	GRIA4	11	105795332	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2702484	105795332	29211184	424	3970											
ATM	472	genome.wustl.edu	37	chr11	108170452	108170452	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatatgtagaggctgttggaAgctgcttgggagaagtgggt	9	12	17	3	0	0	2	0	0	0	2	0	4	0	3	0	4	2	5	0	4	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:108170452A>C	ENST00000452508.2	+	35	5206	c.5017A>C	c.(5017-5019)Agc>Cgc	p.S1673R	ATM_ENST00000278616.4_Missense_Mutation_p.S1673R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1673					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGCTGTTGGAAGCTGCTTGGG	0.333			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													101	109	106					11																	108170452		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5017A>C	11.37:g.108170452A>C	ENSP00000388058:p.Ser1673Arg		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S1673R	ENST00000452508.2	37	c.5017	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	A	9.558	1.117601	0.20877	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70282	-0.47;-0.47	5.47	4.35	0.52113	Armadillo-type fold (1);	0.157011	0.64402	N	0.000001	T	0.48314	0.1493	N	0.15975	0.35	0.35852	D	0.826847	B	0.06786	0.001	B	0.06405	0.002	T	0.46062	-0.9218	10	0.06625	T	0.88	.	11.119	0.48277	0.9278:0.0:0.0722:0.0	.	1673	Q13315	ATM_HUMAN	R	1673	ENSP00000278616:S1673R;ENSP00000388058:S1673R	ENSP00000278616:S1673R	S	+	1	0	ATM	107675662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.089000	0.41672	0.921000	0.36994	0.528000	0.53228	AGC	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	36	0	A	NM_000051		108170452	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	8.33	54	5	SNP	1.000	C	C	108170452	A	C	108170452	3	2	13	1	0	0	0	0	1	0	0	0	1110	72	3	4	5147	4	ATM	11	108170452	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2375120	108170452	26836064	425	3971											
ARHGAP20	57569	genome.wustl.edu	37	chr11	110485314	110485314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcccaatgtccttggcgaAgattttgaggggaatgctct	9	13	11	8	1	1	2	0	1	1	1	3	4	3	3	2	3	1	1	2	3	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:110485314A>G	ENST00000260283.4	-	7	885	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.F175L|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.F165L|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.F178L|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.F175L|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.F165L	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	201	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCCTTGGCGAAGATTTTGAGG	0.413																																																	0													120	107	112					11																	110485314		2201	4298	6499	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.601T>C	11.37:g.110485314A>G	ENSP00000260283:p.Phe201Leu		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.F201L	ENST00000260283.4	37	c.601	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309304	0.81247	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13	6.06	3.61	0.41365	Ras-association (2);	0.267989	0.43260	D	0.000599	T	0.23370	0.0565	L	0.38175	1.15	0.30744	N	0.745884	D;D	0.54397	0.966;0.958	P;P	0.57204	0.815;0.719	T	0.07083	-1.0791	10	0.18710	T	0.47	.	6.309	0.21154	0.4661:0.1234:0.0:0.4105	.	201;178	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	L	201;175;178;165;175;165	ENSP00000260283:F201L;ENSP00000349660:F175L;ENSP00000432076:F178L;ENSP00000436319:F165L;ENSP00000436522:F175L;ENSP00000431399:F165L	ENSP00000260283:F201L	F	-	1	0	ARHGAP20	109990524	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.095000	0.50235	1.095000	0.41419	0.533000	0.62120	TTC	ARHGAP20	-	pfam_Ras-assoc,pfscan_Ras-assoc	ENSG00000137727		0.413	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	-	0	103	0	A	NM_020809		110485314	-1	tier1	-	no_errors	ENST00000260283	ensembl	human	known	74_37	missense	10.53	68	8	SNP	1.000	G	G	110485314	A	G	110485314	3	3	13	1	0	0	0	0	1	0	0	0	870	72	3	4	3014	4	ARHGAP20	11	110485314	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2314862	110485314	24521202	426	3972											
HYOU1	10525	genome.wustl.edu	37	chr11	118922539	118922539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggctcactcaccaggatggGgtagaccactgcatctcgga	10	7	12	12	1	3	1	2	0	1	1	4	3	3	3	2	5	1	3	2	5	1	1	rs375666355		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:118922539G>A	ENST00000404233.3	-	12	1454	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	HYOU1_ENST00000525859.1_Missense_Mutation_p.P444S|HYOU1_ENST00000529972.1_Missense_Mutation_p.P444S|HYOU1_ENST00000543287.1_Missense_Mutation_p.P357S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	444					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACCAGGATGGGGTAGACCACT	0.557																																																	0								G	SER/PRO,SER/PRO	1,4399	2.1+/-5.4	0,1,2199	108	96	100		1330,1330	5	1	11		100	0,8590		0,0,4295	no	missense,missense	HYOU1	NM_001130991.1,NM_006389.3	74,74	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	444/1000,444/1000	118922539	1,12989	2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1330C>T	11.37:g.118922539G>A	ENSP00000384144:p.Pro444Ser		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P444S	ENST00000404233.3	37	c.1330	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443991	0.83993	2.27E-4	0.0	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00627	6.12;6.12;6.12;6.12;6.12	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.01765	0.0056	L	0.38175	1.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;1.0;0.996;0.996	T	0.80120	-0.1515	10	0.20046	T	0.44	-20.6363	14.1222	0.65195	0.0748:0.0:0.9252:0.0	.	435;488;444;444	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	S	444;435;444;444;293;444;487;357;444	ENSP00000384144:P444S;ENSP00000437313:P444S;ENSP00000433397:P444S;ENSP00000442727:P357S;ENSP00000431874:P444S	ENSP00000278752:P435S	P	-	1	0	HYOU1	118427749	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.365000	0.79537	2.735000	0.93741	0.655000	0.94253	CCC	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0	72	0	G	NM_006389		118922539	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	A	A	118922539	G	A	118922539	3	1	13	1	0	0	0	0	1	0	0	0	7497	1232	43	3	1729	3	HYOU1	11	118922539	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8437225	118922539	16083977	427	3973											
CBL	867	genome.wustl.edu	37	chr11	119146741	119146741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagctgtactcgtctgggtCagtgggctattgggtatgtt	5	15	15	6	1	2	1	1	1	1	0	3	1	2	1	0	3	2	5	0	3	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:119146741C>G	ENST00000264033.4	+	6	1280	c.904C>G	c.(904-906)Cag>Gag	p.Q302E		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	302	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.|Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y291_F336del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCGTCTGGGTCAGTGGGCTAT	0.458			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											236	205	215					11																	119146741		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.904C>G	11.37:g.119146741C>G	ENSP00000264033:p.Gln302Glu		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.Q302E	ENST00000264033.4	37	c.904	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156934	0.78114	.	.	ENSG00000110395	ENST00000264033	T	0.80738	-1.41	5.78	5.78	0.91487	Adaptor protein Cbl, PTB domain (1);SH2 motif (1);Adaptor protein Cbl, SH2-like (1);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91853	0.5493	10	0.87932	D	0	-21.8413	20.0124	0.97464	0.0:1.0:0.0:0.0	.	302	P22681	CBL_HUMAN	E	302	ENSP00000264033:Q302E	ENSP00000264033:Q302E	Q	+	1	0	CBL	118651951	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.749000	0.94314	0.655000	0.94253	CAG	CBL	-	pfam_Adaptor_Cbl_SH2-like	ENSG00000110395		0.458	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0	102	0	C	NM_005188		119146741	1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	G	G	119146741	C	G	119146741	3	3	13	1	0	0	0	0	1	0	0	0	2707	827	29	5	926	5	CBL	11	119146741	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	224202	119146741	15859775	428	3974											
SORL1	6653	genome.wustl.edu	37	chr11	121393350	121393350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtcagctcctcaaccTccagctccggagaatgccca	9	7	7	18	1	3	1	3	0	0	1	6	2	6	1	6	1	4	2	6	1	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:121393350T>A	ENST00000260197.7	+	10	1589	c.1460T>A	c.(1459-1461)cTc>cAc	p.L487H	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	487					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCCTCAACCTCCAGCTCCGG	0.552																																																	0													170	154	159					11																	121393350		2203	4299	6502	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1460T>A	11.37:g.121393350T>A	ENSP00000260197:p.Leu487His		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L487H	ENST00000260197.7	37	c.1460	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030280	0.75504	.	.	ENSG00000137642	ENST00000260197	T	0.33438	1.41	5.48	5.48	0.80851	VPS10 (1);	0.537430	0.19487	N	0.113092	T	0.22360	0.0539	N	0.14661	0.345	0.80722	D	1	P	0.40875	0.731	B	0.38712	0.28	T	0.09378	-1.0677	10	0.87932	D	0	.	15.5633	0.76269	0.0:0.0:0.0:1.0	.	487	Q92673	SORL_HUMAN	H	487	ENSP00000260197:L487H	ENSP00000260197:L487H	L	+	2	0	SORL1	120898560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.685000	0.84117	2.077000	0.62373	0.482000	0.46254	CTC	SORL1	-	smart_VPS10	ENSG00000137642		0.552	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0	53	0	T	NM_003105		121393350	1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A	A	121393350	T	A	121393350	3	1	13	1	0	0	0	0	1	0	0	0	14979	1551	54	5	1498	5	SORL1	11	121393350	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2246609	121393350	13613166	429	3975											
ROBO4	54538	genome.wustl.edu	37	chr11	124761567	124761567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagcatgctcacaggagCgacgacagtctagtgggtcc	10	7	13	11	2	2	1	1	1	1	0	3	4	3	2	1	2	3	2	1	2	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:124761567C>T	ENST00000306534.3	-	11	2164	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	RP11-664I21.6_ENST00000524433.1_Intron|ROBO4_ENST00000533054.1_Missense_Mutation_p.R415H	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	560					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CTCACAGGAGCGACGACAGTC	0.612																																																	0													54	59	57					11																	124761567		2201	4299	6500	SO:0001583	missense	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1679G>A	11.37:g.124761567C>T	ENSP00000304945:p.Arg560His		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R560H	ENST00000306534.3	37	c.1679	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264297	0.59431	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.66460	-0.21;0.16	5.99	3.16	0.36331	.	0.190894	0.26279	N	0.025297	T	0.73908	0.3647	M	0.67953	2.075	0.09310	N	1	B;D;D	0.76494	0.038;0.999;0.999	B;P;P	0.62014	0.017;0.897;0.869	T	0.63256	-0.6678	10	0.39692	T	0.17	.	8.3523	0.32310	0.0:0.7577:0.0:0.2423	.	560;450;560	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	H	560;450;415	ENSP00000304945:R560H;ENSP00000437129:R415H	ENSP00000304945:R560H	R	-	2	0	ROBO4	124266777	0.050000	0.20438	0.142000	0.22268	0.784000	0.44337	0.119000	0.15626	0.441000	0.26529	-0.126000	0.14955	CGC	ROBO4	-	NULL	ENSG00000154133		0.612	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	-	0	66	0	C	NM_019055		124761567	-1	tier1	-	no_errors	ENST00000306534	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.077	T	T	124761567	C	T	124761567	3	4	13	1	0	0	0	0	1	0	0	0	13561	768	27	1	1376	1	ROBO4	11	124761567	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3368217	124761567	10244949	430	3976											
STT3A	3703	genome.wustl.edu	37	chr11	125482887	125482887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttttccttgtttaggtgGcaagtgggatgatactggtc	6	17	12	6	0	1	1	0	1	1	0	3	2	2	2	1	4	1	2	1	4	3	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr11:125482887G>T	ENST00000529196.1	+	14	1575	c.1369G>T	c.(1369-1371)Gca>Tca	p.A457S	STT3A_ENST00000531491.1_Missense_Mutation_p.A365S|STT3A_ENST00000392708.4_Missense_Mutation_p.A457S			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	457					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGTTTAGGTGGCAAGTGGGAT	0.403																																																	0													270	243	252					11																	125482887		2201	4299	6500	SO:0001583	missense	0			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1369G>T	11.37:g.125482887G>T	ENSP00000436962:p.Ala457Ser		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.A457S	ENST00000529196.1	37	c.1369	CCDS8458.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.545488|2.545488	0.45280|0.45280	.|.	.|.	ENSG00000134910|ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491|ENST00000526726	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.112133|.	0.64402|.	D|.	0.000010|.	T|T	0.53334|0.53334	0.1790|0.1790	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	B;B|.	0.27932|.	0.194;0.09|.	B;B|.	0.28991|.	0.097;0.086|.	T|T	0.44097|0.44097	-0.9350|-0.9350	9|5	0.26408|.	T|.	0.33|.	-14.1839|-14.1839	20.4898|20.4898	0.99202|0.99202	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	365;457|.	B4DJ24;P46977|.	.;STT3A_HUMAN|.	S|C	457;457;365|168	.|.	ENSP00000376472:A457S|.	A|W	+|+	1|3	0|0	STT3A|STT3A	124988097|124988097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	7.909000|7.909000	0.87444|0.87444	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|TGG	STT3A	-	pfam_Oligo_trans_STT3	ENSG00000134910		0.403	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	HGNC	protein_coding	OTTHUMT00000386691.1	-	0	56	0	G	NM_152713		125482887	1	tier1	-	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	16.33	40	8	SNP	1.000	T	T	125482887	G	T	125482887	3	4	13	1	0	0	0	0	1	0	0	0	15380	1203	42	3	1415	3	STT3A	11	125482887	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	721320	125482887	9523629	431	3977											
WNK1	65125	genome.wustl.edu	37	chr12	977760	977760	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcctgctgtgttaacTcataacaatgagagcagaag	12	10	10	9	1	2	2	1	1	1	2	2	3	2	2	1	0	5	3	1	0	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:977760T>C	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Silent_p.T1041T|WNK1_ENST00000537687.1_Silent_p.T956T|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Silent_p.T255T	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTGTGTTAACTCATAACAATG	0.433																																					Colon(19;451 567 6672 12618 28860)												0													49	49	49					12																	977760		1913	4124	6037	SO:0001627	intron_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2671T>C	12.37:g.977760T>C			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T1041	ENST00000315939.6	37	c.3123	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0	35	0	T	NM_018979		977760	1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	silent	22.86	27	8	SNP	1.000	C	C	977760	T	C	977760	1	2	13	0	1	0	0	0	0	0	0	0	17426	1538	54	4		4	WNK1	12	977760	Intron	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09		977760	132874135	432	3978											
AKAP3	10566	genome.wustl.edu	37	chr12	4736863	4736863	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgagggaataactcTcagccttgtcttgggctttc	8	13	12	8	0	2	2	1	1	2	1	4	4	2	3	1	3	2	1	1	3	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:4736863T>G	ENST00000545990.2	-	5	1729	c.1205A>C	c.(1204-1206)gAg>gCg	p.E402A	AKAP3_ENST00000228850.1_Missense_Mutation_p.E402A|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	402				E -> V (in Ref. 2; AAC35854). {ECO:0000305}.	acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGAATAACTCTCAGCCTTGTC	0.408																																																	0													157	154	155					12																	4736863		2203	4300	6503	SO:0001583	missense	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1205A>C	12.37:g.4736863T>G	ENSP00000440994:p.Glu402Ala		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.E402A	ENST00000545990.2	37	c.1205	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048838	0.36181	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08720	3.06;3.06	5.43	5.43	0.79202	A-kinase anchor 110kDa, C-terminal (1);	0.084489	0.51477	D	0.000085	T	0.23727	0.0574	M	0.68317	2.08	0.36852	D	0.887953	D	0.59767	0.986	P	0.61800	0.894	T	0.05533	-1.0879	10	0.62326	D	0.03	-38.6823	13.2964	0.60298	0.0:0.0:0.0:1.0	.	402	O75969	AKAP3_HUMAN	A	402	ENSP00000228850:E402A;ENSP00000440994:E402A	ENSP00000228850:E402A	E	-	2	0	AKAP3	4607124	1.000000	0.71417	0.978000	0.43139	0.129000	0.20672	2.573000	0.46007	2.198000	0.70561	0.533000	0.62120	GAG	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.408	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	-	0	20	0	T	NM_006422		4736863	-1	tier1	-	no_errors	ENST00000228850	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.889	G	G	4736863	T	G	4736863	3	3	13	1	0	0	0	0	1	0	0	0	452	1551	54	4	1364	4	AKAP3	12	4736863	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3759103	4736863	129115032	433	3979											
VWF	7450	genome.wustl.edu	37	chr12	6058967	6058967	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacctggcagtagtggatAtccacctctacttcagactt	9	13	7	12	0	2	1	1	0	1	1	3	2	3	2	3	2	2	2	3	2	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:6058967A>G	ENST00000261405.5	-	51	8492	c.8238T>C	c.(8236-8238)gaT>gaC	p.D2746D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2746	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGTGGATATCCACCTCTA	0.527																																																	0													174	149	157					12																	6058967		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8238T>C	12.37:g.6058967A>G			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.D2746	ENST00000261405.5	37	c.8238	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000110799		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	31	0	A	NM_000552		6058967	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	31.03	20	9	SNP	1.000	G	G	6058967	A	G	6058967	2	3	13	1	0	0	0	0	0	0	0	1	17295	446	16	4		4	VWF	12	6058967	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1322104	6058967	127792928	434	3980											
CLEC2B	9976	genome.wustl.edu	37	chr12	10010204	10010204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaccaatccaatcataggGgcataaactctgagaatctc	16	8	7	10	0	3	1	1	1	2	1	5	3	4	1	2	2	2	1	2	2	7	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:10010204G>T	ENST00000228438.2	-	3	1039	c.106C>A	c.(106-108)Ccc>Acc	p.P36T	CLEC2B_ENST00000538152.1_5'Flank	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	36						integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(3)|lung(1)	5						CAATCATAGGGGCATAAACTC	0.333																																																	0													59	59	59					12																	10010204		2203	4297	6500	SO:0001583	missense	0			X96719	CCDS8605.1	12p13-p12	2005-02-09	2005-02-09	2005-02-09		ENSG00000110852		"C-type lectin domain containing"	2053	protein-coding gene	gene with protein product		603242	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 2 (activation-induced)"	CLECSF2		9038101	Standard	NM_005127		Approved	AICL, HP10085	uc001qwn.3	Q92478		ENST00000228438.2:c.106C>A	12.37:g.10010204G>T	ENSP00000228438:p.Pro36Thr		B2R9U1|Q8IZE9|Q9BS74|Q9UQB4	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P36T	ENST00000228438.2	37	c.106	CCDS8605.1	12	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198548	0.38806	.	.	ENSG00000110852	ENST00000228438	T	0.75367	-0.93	2.55	2.55	0.30701	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.368851	0.19345	N	0.116543	D	0.82586	0.5069	M	0.76727	2.345	0.43300	D	0.995299	D	0.71674	0.998	D	0.71414	0.973	T	0.83301	-0.0028	10	0.87932	D	0	.	8.7396	0.34550	0.0:0.0:1.0:0.0	.	36	Q92478	CLC2B_HUMAN	T	36	ENSP00000228438:P36T	ENSP00000228438:P36T	P	-	1	0	CLEC2B	9901471	0.995000	0.38212	0.399000	0.26333	0.032000	0.12392	2.039000	0.41193	1.739000	0.51704	0.591000	0.81541	CCC	CLEC2B	-	pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin	ENSG00000110852		0.333	CLEC2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC2B	HGNC	protein_coding	OTTHUMT00000399881.1	-	0	35	0	G	NM_005127		10010204	-1	tier1	-	no_errors	ENST00000228438	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.424	T	T	10010204	G	T	10010204	3	4	13	1	0	0	0	0	1	0	0	0	3514	1232	43	3	355	3	CLEC2B	12	10010204	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3951237	10010204	123841691	435	3981											
TAS2R46	259292	genome.wustl.edu	37	chr12	11214685	11214685	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaagctggattcaacTcagttgcataccaatttaat	14	14	6	7	0	2	0	2	0	0	0	2	1	2	1	1	1	4	4	1	1	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11214685T>G	ENST00000533467.1	-	1	208	c.209A>C	c.(208-210)gAg>gCg	p.E70A	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	70					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGGATTCAACTCAGTTGCATA	0.403																																																	0													63	62	63					12																	11214685		1985	4196	6181	SO:0001583	missense	0			AF494227	CCDS53748.1	12p13.2	2012-08-22				ENSG00000226761		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18877	protein-coding gene	gene with protein product		612774				12379855	Standard	NM_176887		Approved	T2R54	uc001qzp.1	P59540		ENST00000533467.1:c.209A>C	12.37:g.11214685T>G	ENSP00000436450:p.Glu70Ala		P59548|Q645X6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.E70A	ENST00000533467.1	37	c.209	CCDS53748.1	12	.	.	.	.	.	.	.	.	.	.	T	6.171	0.399752	0.11696	.	.	ENSG00000226761	ENST00000533467	T	0.35605	1.3	2.54	-0.123	0.13527	.	.	.	.	.	T	0.27798	0.0684	L	0.47716	1.5	0.09310	N	1	B	0.20368	0.044	B	0.25987	0.065	T	0.36625	-0.9740	9	0.62326	D	0.03	.	2.5107	0.04656	0.4393:0.0:0.1365:0.4242	.	70	P59540	T2R46_HUMAN	A	70	ENSP00000436450:E70A	ENSP00000436450:E70A	E	-	2	0	TAS2R46	11105952	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.214000	0.17541	-0.131000	0.11578	-1.636000	0.00776	GAG	TAS2R46	-	pfam_TAS2_rcpt	ENSG00000226761		0.403	TAS2R46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R46	HGNC	protein_coding	OTTHUMT00000383559.1	-	0	73	0	T	NM_176887		11214685	-1	tier1	-	no_errors	ENST00000533467	ensembl	human	known	74_37	missense	32.00	68	32	SNP	0.000	G	G	11214685	T	G	11214685	3	3	13	1	0	0	0	0	1	0	0	0	15629	1551	54	4	724	4	TAS2R46	12	11214685	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1204481	11214685	122637210	436	3982											
TAS2R30	259293	genome.wustl.edu	37	chr12	11286090	11286090	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttttccagcctcccaaAattacaaactgatatgatca	13	13	4	11	0	1	2	1	2	0	0	3	2	3	2	3	0	4	1	3	0	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11286090A>T	ENST00000539585.1	-	1	1153	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	252			F -> L (in dbSNP:rs2599404). {ECO:0000269|PubMed:15496549}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGCCTCCCAAAATTACAAACT	0.413																																																	0													133	142	139					12																	11286090		2202	4299	6501	SO:0001583	missense	0			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.754T>A	12.37:g.11286090A>T	ENSP00000444736:p.Phe252Ile		Q645X7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.F252I	ENST00000539585.1	37	c.754	CCDS53750.1	12	.	.	.	.	.	.	.	.	.	.	-	5.129	0.209473	0.09757	.	.	ENSG00000256188	ENST00000539585	T	0.36878	1.23	2.6	0.037	0.14194	.	.	.	.	.	T	0.31358	0.0794	L	0.56199	1.76	0.09310	N	1	.	.	.	.	.	.	T	0.29882	-0.9997	7	0.21540	T	0.41	.	4.5879	0.12291	0.6688:0.0:0.3312:0.0	.	.	.	.	I	252	ENSP00000444736:F252I	ENSP00000444736:F252I	F	-	1	0	TAS2R30	11177357	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.733000	0.26087	-0.107000	0.12088	0.260000	0.18958	TTT	TAS2R30	-	pfam_TAS2_rcpt	ENSG00000256188		0.413	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	-	0	156	0	A	NM_001097643		11286090	-1	tier1	-	no_errors	ENST00000539585	ensembl	human	known	74_37	missense	23.36	105	32	SNP	0.000	T	T	11286090	A	T	11286090	3	4	13	1	0	0	0	0	1	0	0	0	15620	14	1	5	209	5	TAS2R30	12	11286090	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	71405	11286090	122565805	437	3983											
PRB4	5545	genome.wustl.edu	37	chr12	11461347	11461347	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccttgaggcttgttgccTtcttgttggggtggtccttg	2	16	15	8	0	1	1	0	1	1	0	2	2	2	2	3	5	1	3	3	5	0	7	rs201691090		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:11461347T>G	ENST00000535904.1	-	3	603	c.570A>C	c.(568-570)gaA>gaC	p.E190D	PRB4_ENST00000445719.2_Missense_Mutation_p.E121D|PRB4_ENST00000279575.1_Missense_Mutation_p.E190D			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	211	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCTTGTTGCCTTCTTGTTGGG	0.607										HNSCC(22;0.051)																																							0													163	176	172					12																	11461347		2203	4300	6503	SO:0001583	missense	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.570A>C	12.37:g.11461347T>G	ENSP00000442834:p.Glu190Asp		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.E190D	ENST00000535904.1	37	c.570	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	2.466	-0.322977	0.05350	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04809	3.55;3.55;3.57	0.916	-0.471	0.12119	.	.	.	.	.	T	0.03095	0.0091	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.11329	0.006	T	0.48570	-0.9024	9	0.15952	T	0.53	.	3.6298	0.08127	0.0:0.0:0.4148:0.5852	.	190	E9PAL0	.	D	190;190;121	ENSP00000279575:E190D;ENSP00000442834:E190D;ENSP00000412740:E121D	ENSP00000279575:E190D	E	-	3	2	PRB4	11352614	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.998000	0.03701	-0.162000	0.10964	-0.842000	0.03052	GAA	PRB4	-	NULL	ENSG00000230657		0.607	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	-	0	156	0	T	NM_002723		11461347	-1	tier1	-	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	20.66	96	25	SNP	0.000	G	G	11461347	T	G	11461347	3	3	13	1	0	0	0	0	1	0	0	0	12487	1606	56	4	177	4	PRB4	12	11461347	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	175257	11461347	122390548	438	3984											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21007980	21007980	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgttcttggcagccctgTcattcagctatattgctaaa	10	14	8	9	0	3	1	2	0	1	1	3	1	3	1	1	1	3	4	1	1	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:21007980T>A	ENST00000381545.3	+	4	322	c.103T>A	c.(103-105)Tca>Aca	p.S35T	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S35T|LST3_ENST00000540229.1_Missense_Mutation_p.S35T|LST3_ENST00000381541.3_Missense_Mutation_p.S35T|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.S35T|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S35T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	35					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GGCAGCCCTGTCATTCAGCTA	0.318																																																	0													76	71	73					12																	21007980		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.103T>A	12.37:g.21007980T>A	ENSP00000370956:p.Ser35Thr		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S35T	ENST00000381545.3	37	c.103	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	T	5.914	0.352781	0.11182	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;1.06;0.27;1.06	3.76	-2.04	0.07343	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.546018	0.19252	N	0.118885	T	0.37293	0.0998	N	0.21282	0.65	0.09310	N	1	B;B;B	0.31790	0.032;0.34;0.04	B;B;B	0.35931	0.044;0.214;0.074	T	0.26395	-1.0104	10	0.38643	T	0.18	.	6.4031	0.21650	0.2223:0.0:0.3287:0.449	.	35;35;35	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	T	35	ENSP00000442000:S35T;ENSP00000261196:S35T;ENSP00000370956:S35T;ENSP00000451758:S35T;ENSP00000370952:S35T;ENSP00000441269:S35T;ENSP00000452013:S35T	ENSP00000370952:S35T	S	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20899247	0.055000	0.20627	0.139000	0.22197	0.338000	0.28826	0.258000	0.18387	0.048000	0.15891	0.377000	0.23210	TCA	SLCO1B3	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	41	0	T	NM_019844		21007980	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.002	A	A	21007980	T	A	21007980	3	1	13	1	0	0	0	0	1	0	0	0	14769	1667	58	5	109	5	SLCO1B3	12	21007980	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	9546633	21007980	112843915	439	3985											
SOX5	6660	genome.wustl.edu	37	chr12	23687309	23687309	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctctcctttcacaccgtaAgtgctctggataacaggcat	9	12	7	13	1	3	0	1	0	2	0	5	1	4	1	3	2	2	3	3	2	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:23687309A>C	ENST00000451604.2	-	15	2237	c.2136T>G	c.(2134-2136)acT>acG	p.T712T	SOX5_ENST00000537393.1_Silent_p.T677T|SOX5_ENST00000541536.1_Silent_p.T591T|SOX5_ENST00000545921.1_Silent_p.T702T|SOX5_ENST00000396007.2_Silent_p.T326T|SOX5_ENST00000381381.2_Silent_p.T591T|SOX5_ENST00000309359.1_Silent_p.T699T|SOX5_ENST00000546136.1_Silent_p.T699T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	712					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TCACACCGTAAGTGCTCTGGA	0.542																																																	0													148	126	133					12																	23687309		2203	4300	6503	SO:0001819	synonymous_variant	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2136T>G	12.37:g.23687309A>C			B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.T712	ENST00000451604.2	37	c.2136	CCDS8699.1	12																																																																																			SOX5	-	NULL	ENSG00000134532		0.542	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0	37	0	A	NM_006940		23687309	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	silent	35.00	26	14	SNP	1.000	C	C	23687309	A	C	23687309	2	2	13	1	0	0	0	0	0	0	0	1	14999	59	3	4		4	SOX5	12	23687309	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2679329	23687309	110164586	440	3986											
KRAS	3845	genome.wustl.edu	37	chr12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcattgcactgtactcctcTtgacctgctgtgtcgagaat	7	14	8	12	1	2	2	1	1	1	1	4	3	3	2	2	0	3	3	2	0	2	3	rs17851045		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)											109	98	102					12																	25380275		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q61H	ENST00000256078.4	37	c.183	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	-	0	64	0	T	NM_033360		25380275	-1	tier1	rs17851045	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	7.84	46	4	SNP	1.000	G	G	25380275	T	G	25380275	3	3	13	1	0	0	0	0	1	0	0	0	8465	1606	56	4	519	4	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1692966	25380275	108471620	441	3987											
CNTN1	1272	genome.wustl.edu	37	chr12	41327555	41327555	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgccaagcactgctgAgattagcacctctggggctg	10	8	11	12	0	1	1	0	1	1	1	1	2	1	1	3	2	4	4	3	2	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:41327555A>T	ENST00000551295.2	+	9	977	c.860A>T	c.(859-861)gAg>gTg	p.E287V	CNTN1_ENST00000547702.1_Missense_Mutation_p.E287V|CNTN1_ENST00000347616.1_Missense_Mutation_p.E287V|CNTN1_ENST00000348761.2_Missense_Mutation_p.E276V|CNTN1_ENST00000360099.3_Missense_Mutation_p.E287V|CNTN1_ENST00000547849.1_Missense_Mutation_p.E287V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	287	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGCACTGCTGAGATTAGCACC	0.408																																																	0													97	97	97					12																	41327555		2203	4298	6501	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.860A>T	12.37:g.41327555A>T	ENSP00000447006:p.Glu287Val		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E287V	ENST00000551295.2	37	c.860	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568298	0.86439	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.052013	0.85682	D	0.000000	T	0.71467	0.3343	L	0.28740	0.885	0.80722	D	1	D;P;B	0.61697	0.99;0.775;0.232	D;P;B	0.64237	0.923;0.485;0.147	T	0.72523	-0.4267	10	0.45353	T	0.12	.	15.8715	0.79122	1.0:0.0:0.0:0.0	.	287;276;287	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	V	287;287;287;287;287;276	ENSP00000448004:E287V;ENSP00000447006:E287V;ENSP00000448653:E287V;ENSP00000325660:E287V;ENSP00000353213:E287V;ENSP00000261160:E276V	ENSP00000325660:E287V	E	+	2	0	CNTN1	39613822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.730000	0.91510	2.221000	0.72209	0.528000	0.53228	GAG	CNTN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000018236		0.408	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	45	0	A	NM_001843		41327555	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	41327555	A	T	41327555	3	4	13	1	0	0	0	0	1	0	0	0	3647	304	11	5	890	5	CNTN1	12	41327555	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	15947280	41327555	92524340	442	3988											
PRPF40B	25766	genome.wustl.edu	37	chr12	50030498	50030498	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacctcctgcctgtctttaGacatggacaaggaagatgca	12	9	10	10	0	1	2	0	0	1	2	2	5	2	4	3	2	3	1	3	2	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:50030498G>A	ENST00000380281.1	+	15	1424		c.e15-1		PRPF40B_ENST00000548825.2_Splice_Site|FMNL3_ENST00000550668.1_5'Flank|PRPF40B_ENST00000261897.1_Splice_Site			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCTGTCTTTAGACATGGACAA	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													111	108	109					12																	50030498		2203	4300	6503	SO:0001630	splice_region_variant	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1361-1G>A	12.37:g.50030498G>A		966	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Splice_Site	SNP	-	e16-1	ENST00000380281.1	37	c.1427-1		12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261042	0.80246	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6481	0.88154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF40B	48316765	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.388000	0.97237	2.786000	0.95864	0.655000	0.94253	.	PRPF40B	-	-	ENSG00000110844		0.577	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	-	0	121	0	G	NM_012272	Intron	50030498	1	tier1	-	no_errors	ENST00000548825	ensembl	human	known	74_37	splice_site	5.56	85	5	SNP	1.000	A	A	50030498	G	A	50030498	5	1	13	1	0	0	0	0	0	0	1	0	12614	956	33	3	1418	3	PRPF40B	12	50030498	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8702943	50030498	83821397	443	3989											
DIP2B	57609	genome.wustl.edu	37	chr12	51138500	51138500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctcatcgttggcgtcGtggttgtggtggacccaggt	5	13	14	9	3	1	0	1	0	0	0	3	1	1	1	2	5	1	2	2	5	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:51138500G>A	ENST00000301180.5	+	38	4643	c.4609G>A	c.(4609-4611)Gtg>Atg	p.V1537M	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1537	Poly-Val.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTTGGCGTCGTGGTTGTGGT	0.552																																																	0													161	123	136					12																	51138500		2203	4300	6503	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4609G>A	12.37:g.51138500G>A	ENSP00000301180:p.Val1537Met		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.V1537M	ENST00000301180.5	37	c.4609	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445569	0.84101	.	.	ENSG00000066084	ENST00000301180	T	0.13307	2.6	5.55	5.55	0.83447	.	0.057919	0.64402	D	0.000002	T	0.49321	0.1550	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57929	-0.7726	10	0.87932	D	0	-16.8726	19.7069	0.96076	0.0:0.0:1.0:0.0	.	1537	Q9P265	DIP2B_HUMAN	M	1537	ENSP00000301180:V1537M	ENSP00000301180:V1537M	V	+	1	0	DIP2B	49424767	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	9.601000	0.98297	2.894000	0.99253	0.591000	0.81541	GTG	DIP2B	-	NULL	ENSG00000066084		0.552	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0	48	0	G	NM_173602		51138500	1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	A	A	51138500	G	A	51138500	3	1	13	1	0	0	0	0	1	0	0	0	4542	1145	40	1	4759	1	DIP2B	12	51138500	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1108002	51138500	82713395	444	3990											
KRT85	3891	genome.wustl.edu	37	chr12	52756165	52756165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggccttctgcagggcgcCctccagctcagccagcttgc	4	9	11	17	1	2	0	1	0	1	0	3	0	3	0	4	2	5	3	4	2	0	3	rs184848860		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:52756165C>A	ENST00000257901.3	-	7	1243	c.1168G>T	c.(1168-1170)Ggc>Tgc	p.G390C	KRT85_ENST00000544265.1_Missense_Mutation_p.G178C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	390	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCAGGGCGCCCTCCAGCTCA	0.642																																																	0													58	54	55					12																	52756165		2203	4300	6503	SO:0001583	missense	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1168G>T	12.37:g.52756165C>A	ENSP00000257901:p.Gly390Cys		Q9NSB1	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G390C	ENST00000257901.3	37	c.1168	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113124	0.37339	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;D	0.88818	-2.43;-2.43	5.16	4.27	0.50696	Filament (1);	2.886840	0.01159	N	0.006588	D	0.88955	0.6578	L	0.49455	1.56	0.38205	D	0.940316	B	0.06786	0.001	B	0.17979	0.02	T	0.65738	-0.6095	10	0.49607	T	0.09	.	13.6794	0.62474	0.0:0.9253:0.0:0.0747	.	390	P78386	KRT85_HUMAN	C	390;178	ENSP00000257901:G390C;ENSP00000440240:G178C	ENSP00000257901:G390C	G	-	1	0	KRT85	51042432	0.614000	0.27017	0.832000	0.32986	0.465000	0.32709	1.768000	0.38511	1.190000	0.43042	-0.258000	0.10820	GGC	KRT85	-	pfam_IF,superfamily_Prefoldin	ENSG00000135443		0.642	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	-	0	52	0	C	NM_002283		52756165	-1	tier1	-	no_errors	ENST00000257901	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.999	A	A	52756165	C	A	52756165	3	1	13	1	0	0	0	0	1	0	0	0	8526	623	22	3	367	3	KRT85	12	52756165	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1617665	52756165	81095730	445	3991											
KRT84	3890	genome.wustl.edu	37	chr12	52777380	52777380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatgtcactcacttcttcTtgaagccctctaggacatcc	9	12	6	14	0	5	2	2	1	3	1	6	3	6	3	2	1	1	0	2	1	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:52777380T>A	ENST00000257951.3	-	2	815	c.749A>T	c.(748-750)aAg>aTg	p.K250M	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	250	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCACTTCTTCTTGAAGCCCTC	0.577																																																	0													53	50	51					12																	52777380		2203	4300	6503	SO:0001583	missense	0			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.749A>T	12.37:g.52777380T>A	ENSP00000257951:p.Lys250Met		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.K250M	ENST00000257951.3	37	c.749	CCDS8825.1	12	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144734	0.77888	.	.	ENSG00000161849	ENST00000257951	D	0.90900	-2.75	5.22	4.07	0.47477	Filament (1);	0.125473	0.36778	N	0.002408	D	0.96676	0.8915	H	0.97659	4.05	0.44352	D	0.997248	D	0.89917	1.0	D	0.81914	0.995	D	0.96754	0.9556	10	0.87932	D	0	.	11.1356	0.48373	0.0:0.0722:0.0:0.9278	.	250	Q9NSB2	KRT84_HUMAN	M	250	ENSP00000257951:K250M	ENSP00000257951:K250M	K	-	2	0	KRT84	51063647	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.996000	0.63914	1.114000	0.41781	0.477000	0.44152	AAG	KRT84	-	pfam_IF,prints_Keratin_II,prints_Keratin_I	ENSG00000161849		0.577	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1	-	0	48	0	T	NM_033045		52777380	-1	tier1	-	no_errors	ENST00000257951	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	52777380	T	A	52777380	3	1	13	1	0	0	0	0	1	0	0	0	8525	1609	56	5	1085	5	KRT84	12	52777380	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	21215	52777380	81074515	446	3992											
KRT76	51350	genome.wustl.edu	37	chr12	53162830	53162830	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactgccactgccactgacCcctccaaaaactccacggct	10	6	5	20	1	0	1	0	1	0	0	2	1	2	1	7	1	3	1	7	1	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:53162830C>A	ENST00000332411.2	-	9	1637	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	528	Tail.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						tgccactgACCCCTCCAAAAA	0.597																																																	0													19	16	17					12																	53162830		2056	4023	6079	SO:0001819	synonymous_variant	0			M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"-", "Intermediate filaments type II, keratins (basic)"	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.1584G>T	12.37:g.53162830C>A			B4DRR3|Q7Z795	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G528	ENST00000332411.2	37	c.1584	CCDS8838.1	12																																																																																			KRT76	-	NULL	ENSG00000185069		0.597	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	HGNC	protein_coding	OTTHUMT00000405928.1	-	0	64	0	C	NM_015848		53162830	-1	tier1	-	no_errors	ENST00000332411	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.140	A	A	53162830	C	A	53162830	2	1	13	1	0	0	0	0	0	0	0	1	8516	610	22	3		3	KRT76	12	53162830	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	385450	53162830	80689065	447	3993											
KRT4	3851	genome.wustl.edu	37	chr12	53202111	53202111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctcgatctctgcccgcagCctctggatcatcctgttgag	5	13	9	14	2	4	1	1	1	3	0	7	3	5	2	3	1	2	2	3	1	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:53202111C>T	ENST00000551956.1	-	6	1584	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	KRT4_ENST00000293774.4_Silent_p.R438R|KRT4_ENST00000458244.2_Silent_p.R344R			P19013	K2C4_HUMAN	keratin 4	378	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGCCCGCAGCCTCTGGATCA	0.542																																					Pancreas(190;284 2995 41444 45903)												0													160	165	163					12																	53202111		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"-", "Intermediate filaments type II, keratins (basic)"	6441	protein-coding gene	gene with protein product	"cytokeratin 4", "keratin, type II cytoskeletal 4"	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1092G>A	12.37:g.53202111C>T			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.R438	ENST00000551956.1	37	c.1314	CCDS41787.2	12																																																																																			KRT4	-	pfam_IF,superfamily_Prefoldin	ENSG00000170477		0.542	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	-	0	30	0	C	NM_002272		53202111	-1	tier1	-	no_errors	ENST00000293774	ensembl	human	known	74_37	silent	12.24	43	6	SNP	0.998	T	T	53202111	C	T	53202111	2	4	13	1	0	0	0	0	0	0	0	1	8504	738	26	3		3	KRT4	12	53202111	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	39281	53202111	80649784	448	3994											
NCKAP1L	3071	genome.wustl.edu	37	chr12	54910699	54910699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccagtttcattgtcaaCggcggcaatttctgcggatg	7	12	13	9	3	3	0	2	0	1	0	3	1	3	1	1	4	2	2	1	4	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:54910699C>T	ENST00000293373.6	+	11	1097	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R290W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	340					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCATTGTCAACGGCGGCAATT	0.502																																																	0													117	111	113					12																	54910699		2203	4300	6503	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1018C>T	12.37:g.54910699C>T	ENSP00000293373:p.Arg340Trp		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.R340W	ENST00000293373.6	37	c.1018	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755694	0.69648	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57752	0.38;0.38	5.19	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.70360	0.3215	M	0.78049	2.395	0.45791	D	0.998673	D	0.89917	1.0	D	0.79784	0.993	T	0.72701	-0.4214	10	0.87932	D	0	-15.0223	11.6326	0.51185	0.466:0.534:0.0:0.0	.	340	P55160	NCKPL_HUMAN	W	340;290	ENSP00000293373:R340W;ENSP00000445596:R290W	ENSP00000293373:R340W	R	+	1	2	NCKAP1L	53196966	0.956000	0.32656	1.000000	0.80357	0.983000	0.72400	0.578000	0.23773	0.659000	0.30945	0.591000	0.81541	CGG	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.502	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	-	0	124	0	C	NM_005337		54910699	1	tier1	-	no_errors	ENST00000293373	ensembl	human	known	74_37	missense	26.26	73	26	SNP	1.000	T	T	54910699	C	T	54910699	3	4	13	1	0	0	0	0	1	0	0	0	10261	527	19	1	1060	1	NCKAP1L	12	54910699	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1708588	54910699	78941196	449	3995											
KIAA0748	9840	genome.wustl.edu	37	chr12	55357537	55357537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactcactggccagcatgAggcaggggtcttccatttca	9	9	11	12	0	3	1	2	1	1	0	4	2	4	1	2	4	1	2	2	4	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:55357537A>G	ENST00000449076.1	-	8	776	c.644T>C	c.(643-645)cTc>cCc	p.L215P	TESPA1_ENST00000532804.1_Missense_Mutation_p.L77P|TESPA1_ENST00000316577.8_Missense_Mutation_p.L215P|TESPA1_ENST00000531122.1_Missense_Mutation_p.L77P|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000524622.1_Missense_Mutation_p.L77P	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	215					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											GGCCAGCATGAGGCAGGGGTC	0.547																																																	0													39	43	42					12																	55357537		1924	4122	6046	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.644T>C	12.37:g.55357537A>G	ENSP00000400892:p.Leu215Pro		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.L215P	ENST00000449076.1	37	c.644	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157273	0.78114	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000532757;ENST00000531122;ENST00000526532	T;T;T;T;T	0.61274	0.12;0.12;0.39;0.39;0.12	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74816	-0.3536	10	0.87932	D	0	-1.1813	13.9255	0.63959	1.0:0.0:0.0:0.0	.	215	A2RU30	K0748_HUMAN	P	77;77;215;215;77;77;77	ENSP00000435622:L77P;ENSP00000432030:L77P;ENSP00000400892:L215P;ENSP00000312679:L215P;ENSP00000433098:L77P	ENSP00000312679:L215P	L	-	2	0	KIAA0748	53643804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.351000	0.90072	2.330000	0.79161	0.533000	0.62120	CTC	TESPA1	-	NULL	ENSG00000135426		0.547	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	-	0	102	0	A	NM_001098815		55357537	-1	tier1	-	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G	G	55357537	A	G	55357537	3	3	13	1	0	0	0	0	1	0	0	0	8217	304	11	4	933	4	KIAA0748	12	55357537	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	446838	55357537	78494358	450	3996											
NEUROD4	58158	genome.wustl.edu	37	chr12	55420233	55420233	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtctggaaatgtcaaaaActtttgtaaaatccaaggag	17	10	9	5	0	2	1	1	0	1	1	3	3	3	3	1	2	1	1	1	2	6	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:55420233A>C	ENST00000242994.3	+	2	388	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	4					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AATGTCAAAAACTTTTGTAAA	0.378																																																	0													52	55	54					12																	55420233		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.10A>C	12.37:g.55420233A>C	ENSP00000242994:p.Thr4Pro		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.T4P	ENST00000242994.3	37	c.10	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	A	0.131	-1.113994	0.01799	.	.	ENSG00000123307	ENST00000242994	D	0.95205	-3.64	5.25	-4.75	0.03239	.	0.681915	0.14581	N	0.310855	T	0.81503	0.4836	N	0.10874	0.06	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.69599	-0.5102	10	0.38643	T	0.18	4.0E-4	0.8796	0.01231	0.2364:0.1269:0.295:0.3417	.	4	Q9HD90	NDF4_HUMAN	P	4	ENSP00000242994:T4P	ENSP00000242994:T4P	T	+	1	0	NEUROD4	53706500	0.011000	0.17503	0.157000	0.22605	0.163000	0.22366	0.265000	0.18515	-0.827000	0.04278	-0.911000	0.02809	ACT	NEUROD4	-	pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.378	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	-	0	123	0	A			55420233	1	tier1	-	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	26.17	79	28	SNP	0.166	C	C	55420233	A	C	55420233	3	2	13	1	0	0	0	0	1	0	0	0	10389	43	2	4	12	4	NEUROD4	12	55420233	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	62696	55420233	78431662	451	3997											
MBD6	114785	genome.wustl.edu	37	chr12	57920760	57920760	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaccaccctcagaccttcTtccacctccttcagcacctc	7	10	2	22	0	3	1	2	0	1	1	7	1	6	1	8	0	1	1	8	0	0	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:57920760T>G	ENST00000355673.3	+	7	2188	c.1832T>G	c.(1831-1833)cTt>cGt	p.L611R	MBD6_ENST00000431731.2_Missense_Mutation_p.L611R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	611	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCAGACCTTCTTCCACCTCCT	0.637																																																	0													171	140	150					12																	57920760		2203	4300	6503	SO:0001583	missense	0			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1832T>G	12.37:g.57920760T>G	ENSP00000347896:p.Leu611Arg		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L611R	ENST00000355673.3	37	c.1832	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606056	0.28623	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.76	3.52	0.40303	.	0.666448	0.12758	N	0.441631	T	0.22666	0.0547	N	0.08118	0	0.22684	N	0.998854	D;D	0.60160	0.987;0.965	P;P	0.52343	0.696;0.566	T	0.04522	-1.0945	9	0.87932	D	0	-7.0872	5.8328	0.18590	0.0:0.0906:0.1708:0.7386	.	611;611	Q6P0P0;Q96DN6	.;MBD6_HUMAN	R	611;611;75	.	ENSP00000300263:L75R	L	+	2	0	MBD6	56207027	0.945000	0.32115	0.995000	0.50966	0.996000	0.88848	2.885000	0.48570	1.925000	0.55765	0.459000	0.35465	CTT	MBD6	-	NULL	ENSG00000166987		0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1		0	72	0	T			57920760	1			no_errors	ENST00000355673	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.701	G	G	57920760	T	G	57920760	3	3	13	1	0	0	0	0	1	0	0	0	9386	1609	56	4	1850	4	MBD6	12	57920760	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2500527	57920760	75931135	452	3998											
AVPR1A	552	genome.wustl.edu	37	chr12	63544255	63544255	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacgcggcacagccagTcggggccgcggaagcggtag	8	3	16	14	6	1	0	1	0	0	0	2	1	1	1	3	5	2	2	3	5	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:63544255T>G	ENST00000299178.2	-	1	467	c.362A>C	c.(361-363)gAc>gCc	p.D121A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	121					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCACAGCCAGTCGGGGCCGCG	0.632																																																	0													19	25	23					12																	63544255		2203	4299	6502	SO:0001583	missense	0			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.362A>C	12.37:g.63544255T>G	ENSP00000299178:p.Asp121Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.D121A	ENST00000299178.2	37	c.362	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.250888	0.80135	.	.	ENSG00000166148	ENST00000299178	T	0.18657	2.2	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53816	-0.8385	9	.	.	.	-29.8526	13.5698	0.61841	0.0:0.0:0.0:1.0	.	121	P37288	V1AR_HUMAN	A	121	ENSP00000299178:D121A	.	D	-	2	0	AVPR1A	61830522	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.902000	0.87389	1.799000	0.52666	0.374000	0.22700	GAC	AVPR1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt	ENSG00000166148		0.632	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	-	0	34	0	T			63544255	-1	tier1	-	no_errors	ENST00000299178	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G	G	63544255	T	G	63544255	3	3	13	1	0	0	0	0	1	0	0	0	1232	1667	58	4	902	4	AVPR1A	12	63544255	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	5623495	63544255	70307640	453	3999											
PTPRR	5801	genome.wustl.edu	37	chr12	71286609	71286609	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttacttgagcttcggaAgaggaatggtagctatgtct	9	14	12	6	1	1	2	0	1	1	1	2	4	1	4	0	3	4	4	0	3	5	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:71286609A>G	ENST00000283228.2	-	2	659	c.207T>C	c.(205-207)tcT>tcC	p.S69S		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	69					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAGCTTCGGAAGAGGAATGGT	0.458																																																	0													232	235	234					12																	71286609		2203	4300	6503	SO:0001819	synonymous_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.207T>C	12.37:g.71286609A>G			B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S69	ENST00000283228.2	37	c.207	CCDS8998.1	12																																																																																			PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	-	0	68	0	A	NM_002849		71286609	-1	tier1	-	no_errors	ENST00000283228	ensembl	human	known	74_37	silent	7.59	73	6	SNP	0.142	G	G	71286609	A	G	71286609	2	3	13	1	0	0	0	0	0	0	0	1	12855	59	3	4		4	PTPRR	12	71286609	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7742354	71286609	62565286	454	4000											
TRHDE	29953	genome.wustl.edu	37	chr12	73056836	73056836	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttctctttccagctcaAgaacttcatgaaaaactatg	15	13	4	9	0	3	2	2	1	1	1	5	2	4	2	1	0	3	1	1	0	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:73056836A>T	ENST00000261180.4	+	19	3032	c.2936A>T	c.(2935-2937)aAg>aTg	p.K979M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	979					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTCCAGCTCAAGAACTTCATG	0.373																																																	0													60	64	63					12																	73056836		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2936A>T	12.37:g.73056836A>T	ENSP00000261180:p.Lys979Met		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.K979M	ENST00000261180.4	37	c.2936	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638017	0.47153	.	.	ENSG00000072657	ENST00000261180	T	0.06371	3.31	5.35	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	L	0.54965	1.715	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.00202	-1.1925	10	0.59425	D	0.04	.	9.9675	0.41734	0.8611:0.0:0.1389:0.0	.	979	Q9UKU6	TRHDE_HUMAN	M	979	ENSP00000261180:K979M	ENSP00000261180:K979M	K	+	2	0	TRHDE	71343103	1.000000	0.71417	0.993000	0.49108	0.727000	0.41649	5.446000	0.66600	0.424000	0.26061	0.455000	0.32223	AAG	TRHDE	-	NULL	ENSG00000072657		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	55	0	A	NM_013381		73056836	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	T	T	73056836	A	T	73056836	3	4	13	1	0	0	0	0	1	0	0	0	16527	72	3	5	3010	5	TRHDE	12	73056836	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1770227	73056836	60795059	455	4001											
SLC6A15	55117	genome.wustl.edu	37	chr12	85267002	85267002	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagttgttgtctctctTgttgtagcttgaaaaggcaa	8	15	12	6	0	2	1	0	1	2	0	3	1	2	1	0	2	1	7	0	2	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:85267002T>G	ENST00000266682.5	-	7	1514	c.973A>C	c.(973-975)Aag>Cag	p.K325Q	SLC6A15_ENST00000552192.1_Missense_Mutation_p.K218Q|SLC6A15_ENST00000309283.7_Missense_Mutation_p.K33Q|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	325					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTGTCTCTCTTGTTGTAGCTT	0.463																																																	0													167	160	162					12																	85267002		2203	4300	6503	SO:0001583	missense	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"Solute carriers"	13621	protein-coding gene	gene with protein product	"homolog of rat orphan transporter v7-3", "sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"	607971	"solute carrier family 6 (neurotransmitter transporter), member 15"			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.973A>C	12.37:g.85267002T>G	ENSP00000266682:p.Lys325Gln		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.K325Q	ENST00000266682.5	37	c.973	CCDS9026.1	12	.	.	.	.	.	.	.	.	.	.	T	22.0	4.231988	0.79688	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818;ENST00000551612	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.51	5.51	0.81932	.	0.041854	0.85682	D	0.000000	D	0.85457	0.5701	L	0.57130	1.785	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.72625	0.931;0.978	D	0.85147	0.0984	10	0.42905	T	0.14	.	15.9211	0.79575	0.0:0.0:0.0:1.0	.	33;325	F8WJN6;Q9H2J7	.;S6A15_HUMAN	Q	33;325;41;218;33;41	ENSP00000311645:K33Q;ENSP00000266682:K325Q;ENSP00000450145:K218Q;ENSP00000449263:K41Q	ENSP00000266682:K325Q	K	-	1	0	SLC6A15	83791133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.210000	0.71456	0.533000	0.62120	AAG	SLC6A15	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000072041		0.463	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	-	0	132	0	T	NM_018057, NM_182767		85267002	-1	tier1	-	no_errors	ENST00000266682	ensembl	human	known	74_37	missense	6.36	103	7	SNP	1.000	G	G	85267002	T	G	85267002	3	3	13	1	0	0	0	0	1	0	0	0	14723	1821	63	4	1243	4	SLC6A15	12	85267002	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	12210166	85267002	48584893	456	4002											
LUM	4060	genome.wustl.edu	37	chr12	91502123	91502123	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgatcttattgttgtctaAgtagagagttagaagagaga	13	13	12	3	0	2	5	0	1	2	4	2	7	2	5	0	0	0	4	0	0	5	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:91502123A>C	ENST00000266718.4	-	2	1088	c.634T>G	c.(634-636)Tta>Gta	p.L212V	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	212					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTGTTGTCTAAGTAGAGAGTT	0.413																																																	0													155	149	151					12																	91502123		2203	4300	6503	SO:0001583	missense	0			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.634T>G	12.37:g.91502123A>C	ENSP00000266718:p.Leu212Val		B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L212V	ENST00000266718.4	37	c.634	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441698	0.43326	.	.	ENSG00000139329	ENST00000266718	T	0.74421	-0.84	5.84	-0.883	0.10600	.	0.214024	0.40222	N	0.001147	T	0.78953	0.4365	M	0.61703	1.905	0.29358	N	0.864885	D	0.53619	0.961	P	0.59012	0.85	T	0.76578	-0.2908	10	0.72032	D	0.01	-21.4355	12.0072	0.53265	0.7742:0.0:0.2258:0.0	.	212	P51884	LUM_HUMAN	V	212	ENSP00000266718:L212V	ENSP00000266718:L212V	L	-	1	2	LUM	90026254	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	2.102000	0.41796	-0.057000	0.13199	-0.379000	0.06801	TTA	LUM	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000139329		0.413	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2	-	0	32	0	A	NM_002345		91502123	-1	tier1	-	no_errors	ENST00000266718	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.998	C	C	91502123	A	C	91502123	3	2	13	1	0	0	0	0	1	0	0	0	9120	69	3	4	390	4	LUM	12	91502123	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	6235121	91502123	42349772	457	4003											
POLR3B	55703	genome.wustl.edu	37	chr12	106898014	106898014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctgtgggcagtgtggacTtctggggtattctggctggt	3	15	17	6	0	3	0	0	0	3	0	3	1	3	1	0	6	0	3	0	6	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:106898014T>C	ENST00000228347.4	+	27	3476	c.3254T>C	c.(3253-3255)cTt>cCt	p.L1085P	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Missense_Mutation_p.L1027P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1085					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAGTGTGGACTTCTGGGGTAT	0.468																																																	0													258	229	239					12																	106898014		2203	4300	6503	SO:0001583	missense	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.3254T>C	12.37:g.106898014T>C	ENSP00000228347:p.Leu1085Pro		A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.L1085P	ENST00000228347.4	37	c.3254	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252076	0.80135	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	T;T	0.78595	-1.19;-1.19	5.55	5.55	0.83447	RNA polymerase Rpb2, domain 7 (1);	0.000000	0.85682	D	0.000000	D	0.92453	0.7604	H	0.98089	4.145	0.80722	D	1	D	0.59357	0.985	D	0.70016	0.967	D	0.95126	0.8251	10	0.87932	D	0	-18.1695	15.6932	0.77473	0.0:0.0:0.0:1.0	.	1085	Q9NW08	RPC2_HUMAN	P	1085;1027	ENSP00000228347:L1085P;ENSP00000445721:L1027P	ENSP00000228347:L1085P	L	+	2	0	POLR3B	105422144	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.107000	0.64212	0.528000	0.53228	CTT	POLR3B	-	pfam_RNA_pol_Rpb2_7	ENSG00000013503		0.468	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	-	0	69	0	T	NM_018082		106898014	1	tier1	-	no_errors	ENST00000228347	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	C	C	106898014	T	C	106898014	3	2	13	1	0	0	0	0	1	0	0	0	12268	1609	56	4	3360	4	POLR3B	12	106898014	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	15395891	106898014	26953881	458	4004											
BTBD11	121551	genome.wustl.edu	37	chr12	107713692	107713692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcggccgccgcagtcccGccggcagccgccgccaacca	5	1	13	22	8	0	0	0	0	0	0	1	0	1	0	9	2	2	2	9	2	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:107713692G>A	ENST00000280758.5	+	1	1503	c.975G>A	c.(973-975)ccG>ccA	p.P325P	BTBD11_ENST00000420571.2_Silent_p.P325P|BTBD11_ENST00000490090.2_Silent_p.P325P	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	325	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ccgcagtcccgccggcagccg	0.751																																																	0													4	6	5					12																	107713692		1677	3651	5328	SO:0001819	synonymous_variant	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.975G>A	12.37:g.107713692G>A			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.P325	ENST00000280758.5	37	c.975	CCDS31893.1	12																																																																																			BTBD11	-	superfamily_Histone-fold	ENSG00000151136		0.751	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1		0	30	0	G	NM_152322		107713692	1			no_errors	ENST00000280758	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.000	A	A	107713692	G	A	107713692	2	1	13	1	0	0	0	0	0	0	0	1	1543	1074	38	1		1	BTBD11	12	107713692	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	815678	107713692	26138203	459	4005											
ACACB	32	genome.wustl.edu	37	chr12	109684194	109684194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggcgcccgtattggcatgGcagaggagatcaaacacatg	11	7	14	9	2	1	2	1	0	0	2	1	3	1	2	1	4	1	3	1	4	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:109684194G>A	ENST00000338432.7	+	39	5631	c.5512G>A	c.(5512-5514)Gca>Aca	p.A1838T	ACACB_ENST00000543201.1_Missense_Mutation_p.A504T|ACACB_ENST00000377854.5_Missense_Mutation_p.A1768T|ACACB_ENST00000377848.3_Missense_Mutation_p.A1838T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1838	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TATTGGCATGGCAGAGGAGAT	0.587																																																	0													70	72	71					12																	109684194		2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5512G>A	12.37:g.109684194G>A	ENSP00000341044:p.Ala1838Thr		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.A1838T	ENST00000338432.7	37	c.5512	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952374	0.92660	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51	5.14	4.24	0.50183	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.047958	0.85682	D	0.000000	D	0.98871	0.9618	H	0.94847	3.59	0.80722	D	1	D	0.54047	0.964	P	0.59761	0.863	D	0.99418	1.0932	10	0.87932	D	0	.	15.5028	0.75713	0.0:0.0:0.8608:0.1392	.	1838	O00763	ACACB_HUMAN	T	1838;1838;1768;1069;504	ENSP00000341044:A1838T;ENSP00000367079:A1838T;ENSP00000367085:A1768T;ENSP00000444075:A504T	ENSP00000341044:A1838T	A	+	1	0	ACACB	108168577	1.000000	0.71417	0.082000	0.20525	0.967000	0.64934	7.991000	0.88244	1.284000	0.44531	0.561000	0.74099	GCA	ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000076555		0.587	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1		0	88	0	G	NM_001093		109684194	1			no_errors	ENST00000338432	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.999	A	A	109684194	G	A	109684194	3	1	13	1	0	0	0	0	1	0	0	0	107	1203	42	3	5662	3	ACACB	12	109684194	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1970502	109684194	24167701	460	4006											
MAPKAPK5	8550	genome.wustl.edu	37	chr12	112321523	112321523	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagttttgagttcccaGaggaagagtggagtcagatc	11	9	14	7	0	1	4	1	1	0	3	3	6	2	6	1	3	0	3	1	3	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:112321523G>T	ENST00000551404.2	+	9	907	c.799G>T	c.(799-801)Gag>Tag	p.E267*	MAPKAPK5_ENST00000550735.2_Nonsense_Mutation_p.E267*			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.E267K(2)		endometrium(1)|lung(11)|ovary(1)	13						TGAGTTCCCAGAGGAAGAGTG	0.527																																																	2	Substitution - Missense(2)	lung(2)											121	117	118					12																	112321523		1985	4166	6151	SO:0001587	stop_gained	0			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.799G>T	12.37:g.112321523G>T	ENSP00000449381:p.Glu267*		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E267*	ENST00000551404.2	37	c.799	CCDS44975.1	12	.	.	.	.	.	.	.	.	.	.	G	43	10.452888	0.99408	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.8525	18.9881	0.92780	0.0:0.0:1.0:0.0	.	.	.	.	X	267;267;267;34;267	.	ENSP00000202788:E267X	E	+	1	0	MAPKAPK5	110805906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.484000	0.83849	0.557000	0.71058	GAG	MAPKAPK5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000089022		0.527	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPKAPK5	HGNC	protein_coding	OTTHUMT00000405019.2		0	106	0	G	NM_139078		112321523	1			no_errors	ENST00000551404	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T	T	112321523	G	T	112321523	4	4	13	1	0	0	0	0	0	1	0	0	9329	943	33	3	833	3	MAPKAPK5	12	112321523	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2637329	112321523	21530372	461	4007											
C12orf51	283450	genome.wustl.edu	37	chr12	112672926	112672926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatgactggtcttcccgcTtgtggataaatatcgagagc	9	11	13	8	2	1	2	0	1	1	1	3	5	2	4	1	3	1	1	1	3	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:112672926T>C	ENST00000430131.2	-	36	5749	c.4604A>G	c.(4603-4605)aAg>aGg	p.K1535R	HECTD4_ENST00000550722.1_Missense_Mutation_p.K1811R|HECTD4_ENST00000377560.5_Missense_Mutation_p.K1785R			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1535					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTCTTCCCGCTTGTGGATAAA	0.468																																																	0													130	131	131					12																	112672926		2030	4185	6215	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4604A>G	12.37:g.112672926T>C	ENSP00000404379:p.Lys1535Arg		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.K1785R	ENST00000430131.2	37	c.5354		12	.	.	.	.	.	.	.	.	.	.	T	23.0	4.361110	0.82353	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.59638	0.25;0.27;0.25	6.03	6.03	0.97812	.	.	.	.	.	T	0.63295	0.2499	N	0.19112	0.55	0.58432	D	0.999998	P	0.52842	0.956	D	0.65010	0.931	T	0.68247	-0.5459	9	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	1535	Q9Y4D8	K0614_HUMAN	R	1785;1535;1811	ENSP00000366783:K1785R;ENSP00000404379:K1535R;ENSP00000449784:K1811R	ENSP00000366783:K1785R	K	-	2	0	C12orf51	111157309	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.583000	0.82559	2.302000	0.77476	0.533000	0.62120	AAG	HECTD4	-	NULL	ENSG00000173064		0.468	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	67	0	T	NM_173813		112672926	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	C	C	112672926	T	C	112672926	3	2	13	1	0	0	0	0	1	0	0	0	1701	1609	56	4	7546	4	C12orf51	12	112672926	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	351403	112672926	21178969	462	4008											
C12orf51	283450	genome.wustl.edu	37	chr12	112690287	112690287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaggagtgttgtgttcacGgccacttctcatttcaaagg	9	13	10	9	1	4	0	4	0	1	0	5	1	4	1	1	3	0	2	1	3	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:112690287G>T	ENST00000430131.2	-	22	3372	c.2227C>A	c.(2227-2229)Cgt>Agt	p.R743S	HECTD4_ENST00000550722.1_Missense_Mutation_p.R1019S|HECTD4_ENST00000377560.5_Missense_Mutation_p.R993S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	743					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTGTGTTCACGGCCACTTCTC	0.438																																																	0													132	124	127					12																	112690287		2203	4300	6503	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2227C>A	12.37:g.112690287G>T	ENSP00000404379:p.Arg743Ser		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R993S	ENST00000430131.2	37	c.2977		12	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708808	0.89018	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52057	0.68;0.69;0.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	N	0.14661	0.345	0.58432	D	0.999999	D;D;D	0.63046	0.992;0.987;0.992	D;D;D	0.70487	0.969;0.931;0.969	T	0.52510	-0.8566	10	0.33141	T	0.24	.	18.8376	0.92169	0.0:0.0:1.0:0.0	.	743;743;733	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	S	993;743;1019	ENSP00000366783:R993S;ENSP00000404379:R743S;ENSP00000449784:R1019S	ENSP00000366783:R993S	R	-	1	0	C12orf51	111174670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.476000	0.81055	2.705000	0.92388	0.585000	0.79938	CGT	HECTD4	-	NULL	ENSG00000173064		0.438	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding			0	65	0	G	NM_173813		112690287	-1			no_errors	ENST00000377560	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	112690287	G	T	112690287	3	4	13	1	0	0	0	0	1	0	0	0	1701	1116	39	2	9979	2	C12orf51	12	112690287	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	17361	112690287	21161608	463	4009											
OAS1	4938	genome.wustl.edu	37	chr12	113354384	113354384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gacggtctatgcttgggagcGagggagcatgaaaacacatt	12	8	14	7	2	1	1	0	1	1	0	1	5	1	3	0	3	4	2	0	3	3	3	rs56006713	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:113354384G>C	ENST00000202917.5	+	4	988	c.725G>C	c.(724-726)cGa>cCa	p.R242P	OAS1_ENST00000445409.2_Missense_Mutation_p.R242P|OAS1_ENST00000551241.1_Missense_Mutation_p.R242P|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000452357.2_Missense_Mutation_p.R242P	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	242					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GCTTGGGAGCGAGGGAGCATG	0.463																																																	0													93	85	87					12																	113354384		2203	4300	6503	SO:0001583	missense	0			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.725G>C	12.37:g.113354384G>C	ENSP00000202917:p.Arg242Pro		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.R242P	ENST00000202917.5	37	c.725	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357684	0.41801	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.84	-9.68	0.00528	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	1.647440	0.03719	N	0.251441	T	0.59335	0.2186	M	0.74881	2.28	0.09310	N	0.999999	P;P;P;D;P	0.56521	0.723;0.861;0.629;0.976;0.926	P;P;P;P;P	0.57371	0.546;0.584;0.657;0.819;0.754	T	0.74565	-0.3623	10	0.49607	T	0.09	6.1564	19.1858	0.93644	0.849:0.0:0.151:0.0	.	242;242;242;242;242	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	P	242;242;242;242;242;238	ENSP00000202917:R242P;ENSP00000388001:R242P;ENSP00000415721:R242P;ENSP00000448790:R242P;ENSP00000448348:R238P	ENSP00000202917:R242P	R	+	2	0	OAS1	111838767	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.247000	0.00541	-3.525000	0.00147	-3.095000	0.00064	CGA	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000089127		0.463	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	-	0	108	0	G			113354384	1	tier1	-	no_errors	ENST00000445409	ensembl	human	known	74_37	missense	25.61	61	21	SNP	0.000	C	C	113354384	G	C	113354384	3	2	13	1	0	0	0	0	1	0	0	0	10838	1058	37	5	739	5	OAS1	12	113354384	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	664097	113354384	20497511	464	4010											
TBX5	6910	genome.wustl.edu	37	chr12	114836398	114836398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaaatgggtccaggtGgttgttggtgagcttgagtt	7	13	15	6	0	0	2	0	2	0	0	1	2	1	2	2	4	2	4	2	4	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:114836398G>C	ENST00000310346.4	-	5	1156	c.490C>G	c.(490-492)Cac>Gac	p.H164D	TBX5_ENST00000349716.5_Missense_Mutation_p.H114D|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.H164D|TBX5_ENST00000405440.2_Missense_Mutation_p.H164D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	164					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTCCAGGTGGTTGTTGGTG	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)												0													107	78	88					12																	114836398		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.490C>G	12.37:g.114836398G>C	ENSP00000309913:p.His164Asp		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.H164D	ENST00000310346.4	37	c.490	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121370	0.77436	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	4.35	4.35	0.52113	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.39245	1.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.989;0.991	D	0.88357	0.2985	10	0.29301	T	0.29	.	17.429	0.87534	0.0:0.0:1.0:0.0	.	164;164	Q99593-2;Q99593	.;TBX5_HUMAN	D	114;164;61;164;164	ENSP00000337723:H114D;ENSP00000309913:H164D;ENSP00000384152:H164D;ENSP00000433292:H164D	ENSP00000309913:H164D	H	-	1	0	TBX5	113320781	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	2.392000	0.81423	0.655000	0.94253	CAC	TBX5	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000089225		0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0	110	0	G	NM_080717		114836398	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	10.23	79	9	SNP	1.000	C	C	114836398	G	C	114836398	3	2	13	1	0	0	0	0	1	0	0	0	15708	1348	47	5	1153	5	TBX5	12	114836398	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1482014	114836398	19015497	465	4011											
RFC5	5985	genome.wustl.edu	37	chr12	118462695	118462695	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataccagattctgcctcaTctgtaactatctgtcaaaga	14	12	5	10	0	5	2	2	0	3	2	5	2	5	2	2	0	3	1	2	0	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:118462695T>C	ENST00000454402.2	+	6	579	c.461T>C	c.(460-462)aTc>aCc	p.I154T	RFC5_ENST00000392542.2_Missense_Mutation_p.I133T|RFC5_ENST00000229043.3_Missense_Mutation_p.I69T	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	154					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCTGCCTCATCTGTAACTAT	0.458																																																	0													84	87	86					12																	118462695		2203	4300	6503	SO:0001583	missense	0				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"ATPases / AAA-type"	9973	protein-coding gene	gene with protein product		600407	"replication factor C (activator 1) 5 (36.5kD)"			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.461T>C	12.37:g.118462695T>C	ENSP00000408295:p.Ile154Thr		A8MZ62|B3KSX8	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.I154T	ENST00000454402.2	37	c.461	CCDS9185.1	12	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652223	0.88056	.	.	ENSG00000111445	ENST00000449641;ENST00000537315;ENST00000229043;ENST00000454402;ENST00000392542	T;T;D	0.92149	1.13;1.24;-2.98	5.47	5.47	0.80525	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95023	0.8389	M	0.64676	1.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.95009	0.8150	10	0.52906	T	0.07	-20.4498	14.5424	0.68005	0.0:0.0:0.0:1.0	.	133;168;154	A8MZ62;Q59GW7;P40937	.;.;RFC5_HUMAN	T	69;69;69;154;133	ENSP00000229043:I69T;ENSP00000408295:I154T;ENSP00000376325:I133T	ENSP00000229043:I69T	I	+	2	0	RFC5	116947078	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.934000	0.87649	2.071000	0.62044	0.460000	0.39030	ATC	RFC5	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000111445		0.458	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	-	0	51	0	T	NM_007370		118462695	1	tier1	-	no_errors	ENST00000454402	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	C	C	118462695	T	C	118462695	3	2	13	1	0	0	0	0	1	0	0	0	13293	1435	50	4	489	4	RFC5	12	118462695	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3626297	118462695	15389200	466	4012											
CABP1	9478	genome.wustl.edu	37	chr12	121104685	121104685	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctacccttctagagtttgtCcggatgatgtcccgctgagg	6	13	11	11	2	2	3	0	2	2	1	4	4	4	4	3	2	1	2	3	2	2	4	rs200202796		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:121104685C>G	ENST00000316803.3	+	6	1229	c.1095C>G	c.(1093-1095)gtC>gtG	p.V365V	CABP1_ENST00000288616.3_Silent_p.V222V|CABP1_ENST00000351200.2_Silent_p.V162V|CABP1_ENST00000453000.1_Silent_p.V301V	NM_001033677.1	NP_001028849.1	Q9NZU7	CABP1_HUMAN	calcium binding protein 1	365	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of catalytic activity (GO:0043086)|negative regulation of cell communication by electrical coupling (GO:0010651)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of voltage-gated calcium channel activity (GO:1901386)	cell junction (GO:0030054)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|enzyme inhibitor activity (GO:0004857)|nuclear localization sequence binding (GO:0008139)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAGAGTTTGTCCGGATGATGT	0.647																																																	0													53	43	46					12																	121104685		2203	4299	6502	SO:0001819	synonymous_variant	0			AF169148	CCDS9204.1, CCDS9205.1, CCDS31913.1	12q24.31	2013-01-10	2007-03-12		ENSG00000157782	ENSG00000157782		"EF-hand domain containing"	1384	protein-coding gene	gene with protein product	"calbrain", "caldendrin"	605563				9920909, 10625670	Standard	NM_004276		Approved		uc001tyu.3	Q9NZU7	OTTHUMG00000156794	ENST00000316803.3:c.1095C>G	12.37:g.121104685C>G			O95663|Q8N6H5|Q9NZU8	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V365	ENST00000316803.3	37	c.1095	CCDS31913.1	12																																																																																			CABP1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000157782		0.647	CABP1-001	KNOWN	basic|CCDS	protein_coding	CABP1	HGNC	protein_coding	OTTHUMT00000345822.1	-	0	78	0	C	NM_001033677		121104685	1	tier1	-	no_errors	ENST00000316803	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.985	G	G	121104685	C	G	121104685	2	3	13	1	0	0	0	0	0	0	0	1	2538	842	30	5		5	CABP1	12	121104685	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2641990	121104685	12747210	467	4013											
SPPL3	121665	genome.wustl.edu	37	chr12	121222277	121222277	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaaactcatatttacCtgctgtacatattgtaaaaa	17	12	5	7	0	1	1	1	0	0	1	1	2	1	1	1	0	4	3	1	0	8	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:121222277C>A	ENST00000353487.2	-	4	813	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	105						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATATTTACCTGCTGTACAT	0.318																																																	0													62	60	61					12																	121222277		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.310+1G>T	12.37:g.121222277C>A			Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.V104F	ENST00000353487.2	37	c.310	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746780	0.89663	.	.	ENSG00000157837	ENST00000353487;ENST00000405631;ENST00000536996;ENST00000543608;ENST00000543854;ENST00000543181	T;T;T;T;D	0.92965	2.08;2.08;2.08;2.08;-3.14	5.86	5.86	0.93980	.	0.105034	0.64402	D	0.000004	D	0.95560	0.8557	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.72982	0.979;0.939	D	0.94239	0.7483	10	0.39692	T	0.17	-30.2732	19.797	0.96490	0.0:1.0:0.0:0.0	.	105;104	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	F	104;103;67;67;18;67	ENSP00000288680:V104F;ENSP00000442484:V67F;ENSP00000437603:V67F;ENSP00000439390:V18F;ENSP00000446088:V67F	ENSP00000288680:V104F	V	-	1	0	AC069214.1	119706660	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.243000	0.78219	2.776000	0.95493	0.655000	0.94253	GTT	SPPL3	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000157837		0.318	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2	-	0	49	0	C	NM_139015	Missense_Mutation	121222277	-1	tier1	-	no_errors	ENST00000353487	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	A	A	121222277	C	A	121222277	5	1	13	1	0	0	0	0	0	0	1	0	15137	695	24	3	876	3	SPPL3	12	121222277	Splice_Site	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	117592	121222277	12629618	468	4014											
ATP6V0A2	23545	genome.wustl.edu	37	chr12	124235717	124235717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtccctgtcctcttcttgGgaaagccactgtttttgttg	4	17	9	11	0	2	0	0	0	2	0	4	1	4	1	3	1	1	2	3	1	1	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124235717G>C	ENST00000330342.3	+	16	2244	c.1996G>C	c.(1996-1998)Gga>Cga	p.G666R	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	666					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.G666R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CCTCTTCTTGGGAAAGCCACT	0.493																																																	1	Substitution - Missense(1)	endometrium(1)											274	212	233					12																	124235717		2203	4300	6503	SO:0001583	missense	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1996G>C	12.37:g.124235717G>C	ENSP00000332247:p.Gly666Arg		A8K026|Q6NUM0	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.G666R	ENST00000330342.3	37	c.1996	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428929	0.83667	.	.	ENSG00000185344	ENST00000330342	D	0.86230	-2.09	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94637	0.8271	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94486	0.7697	10	0.48119	T	0.1	-24.1509	17.1158	0.86688	0.0:0.0:1.0:0.0	.	666	Q9Y487	VPP2_HUMAN	R	666	ENSP00000332247:G666R	ENSP00000332247:G666R	G	+	1	0	ATP6V0A2	122801670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.573000	0.90759	2.716000	0.92895	0.655000	0.94253	GGA	ATP6V0A2	-	pfam_V-ATPase_116kDa_su	ENSG00000185344		0.493	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2	-	0	102	0	G	NM_012463		124235717	1	tier1	-	no_errors	ENST00000330342	ensembl	human	known	74_37	missense	15.71	59	11	SNP	1.000	C	C	124235717	G	C	124235717	3	2	13	1	0	0	0	0	1	0	0	0	1170	1233	43	5	2058	5	ATP6V0A2	12	124235717	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3013440	124235717	9616178	469	4015											
DNAH10	196385	genome.wustl.edu	37	chr12	124350580	124350580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaaaaacttgaaatatcGaccatactggaaaaaatggg	18	9	7	7	1	0	1	0	1	0	0	2	3	1	2	2	2	2	0	2	2	9	4	rs375260050		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:124350580G>T	ENST00000409039.3	+	40	6798	c.6773G>T	c.(6772-6774)cGa>cTa	p.R2258L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2258	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGAAATATCGACCATACTGG	0.328																																																	0													123	108	112					12																	124350580		1821	4084	5905	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6773G>T	12.37:g.124350580G>T	ENSP00000386770:p.Arg2258Leu		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R2258L	ENST00000409039.3	37	c.6773	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	5.146	0.212618	0.09757	.	.	ENSG00000197653	ENST00000409039	D	0.87179	-2.22	5.87	3.57	0.40892	.	1.454590	0.04555	U	0.390679	T	0.80363	0.4609	L	0.31752	0.955	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.65319	-0.6197	10	0.48119	T	0.1	.	4.0953	0.09988	0.6338:0.0:0.2226:0.1436	.	2258	Q8IVF4	DYH10_HUMAN	L	2258	ENSP00000386770:R2258L	ENSP00000386770:R2258L	R	+	2	0	DNAH10	122916533	0.005000	0.15991	0.079000	0.20413	0.094000	0.18550	1.486000	0.35530	1.057000	0.40506	-0.302000	0.09304	CGA	DNAH10	-	NULL	ENSG00000197653		0.328	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	68	0	G			124350580	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.017	T	T	124350580	G	T	124350580	3	4	13	1	0	0	0	0	1	0	0	0	4612	1058	37	2	6931	2	DNAH10	12	124350580	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	114863	124350580	9501315	470	4016											
PIWIL1	9271	genome.wustl.edu	37	chr12	130833811	130833811	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttggcctggcttcactacTtccatccttcagtatgaaaa	10	14	6	11	0	2	1	2	1	0	0	4	1	4	1	3	2	1	2	3	2	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr12:130833811T>C	ENST00000245255.3	+	8	1034	c.762T>C	c.(760-762)acT>acC	p.T254T		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	254					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCTTCACTACTTCCATCCTTC	0.438																																																	0													133	130	131					12																	130833811		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.762T>C	12.37:g.130833811T>C			A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.T254	ENST00000245255.3	37	c.762	CCDS9268.1	12																																																																																			PIWIL1	-	superfamily_PAZ_dom	ENSG00000125207		0.438	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0	59	0	T			130833811	1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	35.14	47	26	SNP	0.510	C	C	130833811	T	C	130833811	2	2	13	1	0	0	0	0	0	0	0	1	11996	1596	56	4		4	PIWIL1	12	130833811	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6483231	130833811	3018084	471	4017											
ATP12A	479	genome.wustl.edu	37	chr13	25263409	25263409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctcacccaggtgtacttgGgctgtgtgcttggtctggtg	3	15	14	9	0	2	0	1	0	2	0	3	0	2	0	1	4	2	3	1	4	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:25263409G>A	ENST00000381946.3	+	5	609	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	ATP12A_ENST00000218548.6_Missense_Mutation_p.G148S			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	148					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGTGTACTTGGGCTGTGTGCT	0.537																																					Pancreas(156;1582 1935 18898 22665 26498)												0													198	185	190					13																	25263409		2203	4300	6503	SO:0001583	missense	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.442G>A	13.37:g.25263409G>A	ENSP00000371372:p.Gly148Ser		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G148S	ENST00000381946.3	37	c.442	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218646	0.58560	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.89552	-2.53;-2.53	5.14	5.14	0.70334	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.85462	2.755	0.80722	D	1	B;B	0.13145	0.002;0.007	B;B	0.15870	0.014;0.014	D	0.87774	0.2607	10	0.54805	T	0.06	.	16.1375	0.81497	0.0:0.0:1.0:0.0	.	148;148	P54707-2;P54707	.;AT12A_HUMAN	S	148	ENSP00000218548:G148S;ENSP00000371372:G148S	ENSP00000218548:G148S	G	+	1	0	ATP12A	24161409	1.000000	0.71417	0.997000	0.53966	0.359000	0.29487	7.194000	0.77789	2.680000	0.91292	0.561000	0.74099	GGC	ATP12A	-	tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000075673		0.537	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	-	0	71	0	G	NM_001676		25263409	1	tier1	-	no_errors	ENST00000218548	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	A	A	25263409	G	A	25263409	3	1	13	1	0	0	0	0	1	0	0	0	1123	1232	43	3	460	3	ATP12A	13	25263409	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		25263409	89906469	472	4018											
RNF17	56163	genome.wustl.edu	37	chr13	25419157	25419157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgactgtttaagaaaacTtgaagaaaatctaaagacaa	19	11	7	4	0	1	5	0	2	1	3	1	5	1	5	0	0	1	2	0	0	9	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:25419157T>G	ENST00000255324.5	+	22	3093	c.3041T>G	c.(3040-3042)cTt>cGt	p.L1014R	RNF17_ENST00000339524.3_Missense_Mutation_p.L66R|RNF17_ENST00000381921.1_Missense_Mutation_p.L1014R	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1014	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTAAGAAAACTTGAAGAAAAT	0.308																																																	0													120	133	128					13																	25419157		2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3041T>G	13.37:g.25419157T>G	ENSP00000255324:p.Leu1014Arg		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L1014R	ENST00000255324.5	37	c.3041	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517201	0.64634	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120;ENST00000339524	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	4.86	4.86	0.63082	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.64402	D	0.000007	T	0.24812	0.0602	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.01692	-1.1294	10	0.87932	D	0	-17.2121	12.0566	0.53538	0.0:0.0:0.0:1.0	.	1014;66;1014;1014	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	R	1014;1014;873;338;66	ENSP00000255324:L1014R;ENSP00000371346:L1014R;ENSP00000388892:L338R;ENSP00000344776:L66R	ENSP00000255324:L1014R	L	+	2	0	RNF17	24317157	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	4.606000	0.61126	2.038000	0.60285	0.482000	0.46254	CTT	RNF17	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000132972		0.308	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	60	0	T	NM_031994		25419157	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	21.25	63	17	SNP	0.999	G	G	25419157	T	G	25419157	3	3	13	1	0	0	0	0	1	0	0	0	13506	1609	56	4	3127	4	RNF17	13	25419157	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	155748	25419157	89750721	473	4019											
ATP8A2	51761	genome.wustl.edu	37	chr13	26144928	26144928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccccttgcattcaggaGttcctcacccttctggccgt	6	11	8	16	1	3	0	2	0	1	0	4	1	4	1	5	2	2	2	5	2	0	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:26144928G>T	ENST00000381655.2	+	17	1639	c.1497G>T	c.(1495-1497)gaG>gaT	p.E499D	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.E459D	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	459					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E499D(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCATTCAGGAGTTCCTCACCC	0.567																																																	1	Substitution - Missense(1)	ovary(1)											99	100	100					13																	26144928		2083	4214	6297	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1497G>T	13.37:g.26144928G>T	ENSP00000371070:p.Glu499Asp		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E499D	ENST00000381655.2	37	c.1497	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886737	0.51908	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.63913	-0.07;-0.07	4.82	3.97	0.46021	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	L	0.50993	1.605	0.53005	D	0.999967	B;P;D;B	0.69078	0.163;0.552;0.997;0.163	B;P;D;B	0.68039	0.33;0.447;0.955;0.33	T	0.68603	-0.5365	10	0.49607	T	0.09	.	8.5203	0.33270	0.1793:0.0:0.8207:0.0	.	459;279;459;459	B7Z880;F5GZN5;Q9NTI2-3;Q9NTI2	.;.;.;AT8A2_HUMAN	D	499;459;279	ENSP00000371070:E499D;ENSP00000255283:E459D	ENSP00000255283:E459D	E	+	3	2	ATP8A2	25042928	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.040000	0.57333	1.237000	0.43756	0.563000	0.77884	GAG	ATP8A2	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000132932		0.567	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2		0	44	0	G	NM_016529		26144928	1			no_errors	ENST00000381655	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	26144928	G	T	26144928	3	4	13	1	0	0	0	0	1	0	0	0	1194	1020	36	3	1563	3	ATP8A2	13	26144928	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	725771	26144928	89024950	474	4020											
PAN3	255967	genome.wustl.edu	37	chr13	28840936	28840936	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggatacagaaatcaagtaAttttggatatattacatctt	15	14	6	6	1	2	1	1	0	1	1	2	3	2	3	1	2	2	1	1	2	7	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:28840936A>C	ENST00000380958.3	+	10	1648	c.1496A>C	c.(1495-1497)aAt>aCt	p.N499T	PAN3_ENST00000282391.5_Missense_Mutation_p.N187T|PAN3_ENST00000399613.1_Missense_Mutation_p.N299T	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAATCAAGTAATTTTGGATAT	0.403																																																	0													90	89	89					13																	28840936		2203	4300	6503	SO:0001583	missense	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1496A>C	13.37:g.28840936A>C	ENSP00000370345:p.Asn499Thr			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.N499T	ENST00000380958.3	37	c.1496	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	A	10.55	1.380344	0.24944	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.19806	2.12;2.12;2.12	5.41	5.41	0.78517	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	N	0.00926	-1.1	0.80722	D	1	B;B;B;B	0.24920	0.022;0.114;0.007;0.092	B;B;B;B	0.24541	0.054;0.038;0.006;0.028	T	0.34204	-0.9838	10	0.21014	T	0.42	-17.9285	15.4453	0.75225	1.0:0.0:0.0:0.0	.	499;499;187;445	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	T	499;299;187	ENSP00000370345:N499T;ENSP00000382522:N299T;ENSP00000282391:N187T	ENSP00000282391:N187T	N	+	2	0	PAN3	27738936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.306000	0.78905	2.046000	0.60703	0.528000	0.53228	AAT	PAN3	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000152520		0.403	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	-	0	59	0	A	NM_175854		28840936	1	tier1	-	no_errors	ENST00000380958	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	C	C	28840936	A	C	28840936	3	2	13	1	0	0	0	0	1	0	0	0	11454	101	4	4	1534	4	PAN3	13	28840936	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2696008	28840936	86328942	475	4021											
NAA16	79612	genome.wustl.edu	37	chr13	41949637	41949637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcctgtcataacctgcttCcttttacatctgccttcttg	5	17	6	13	0	3	0	1	0	2	0	4	0	4	0	4	1	4	1	4	1	2	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:41949637C>T	ENST00000379406.3	+	20	2818	c.2494C>T	c.(2494-2496)Cct>Tct	p.P832S	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	832					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TAACCTGCTTCCTTTTACATC	0.408																																																	0													165	139	148					13																	41949637		2203	4300	6503	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2494C>T	13.37:g.41949637C>T	ENSP00000368716:p.Pro832Ser		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P832S	ENST00000379406.3	37	c.2494	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273666	0.80580	.	.	ENSG00000172766	ENST00000379406	T	0.54071	0.59	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.73218	0.3559	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.74937	-0.3494	10	0.59425	D	0.04	-13.655	19.4133	0.94685	0.0:1.0:0.0:0.0	.	832	Q6N069	NAA16_HUMAN	S	832	ENSP00000368716:P832S	ENSP00000368716:P832S	P	+	1	0	NAA16	40847637	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.169000	0.58223	2.597000	0.87782	0.650000	0.86243	CCT	NAA16	-	NULL	ENSG00000172766		0.408	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	-	0	54	0	C	NM_018527		41949637	1	tier1	-	no_errors	ENST00000379406	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	T	T	41949637	C	T	41949637	3	4	13	1	0	0	0	0	1	0	0	0	10157	855	30	3	2605	3	NAA16	13	41949637	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	13108701	41949637	73220241	476	4022											
KCNRG	283518	genome.wustl.edu	37	chr13	50589912	50589912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatgaacttcgttctctaGttgatctcttaaacccatac	10	16	4	11	1	3	2	0	2	3	0	6	2	3	2	1	0	3	2	1	0	6	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:50589912G>T	ENST00000312942.1	+	1	523	c.283G>T	c.(283-285)Gtt>Ttt	p.V95F	TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000360473.4_Missense_Mutation_p.V95F|TRIM13_ENST00000478111.1_Intron	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	95	BTB.				protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TCGTTCTCTAGTTGATCTCTT	0.423																																																	0													142	143	143					13																	50589912		2203	4300	6503	SO:0001583	missense	0				CCDS9424.1, CCDS41889.1	13q14.11	2008-05-02			ENSG00000198553	ENSG00000198553			18893	protein-coding gene	gene with protein product							Standard	NM_173605		Approved		uc001vdu.3	Q8N5I3	OTTHUMG00000140140	ENST00000312942.1:c.283G>T	13.37:g.50589912G>T	ENSP00000324191:p.Val95Phe		A2A2X9|Q0P6D0|Q8IU75|Q8N3Q9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.V95F	ENST00000312942.1	37	c.283	CCDS9424.1	13	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194349	0.58017	.	.	ENSG00000198553	ENST00000360473;ENST00000312942	T;T	0.46063	0.88;0.88	5.98	5.14	0.70334	BTB/POZ-like (1);BTB/POZ fold (2);	0.169580	0.40064	N	0.001195	T	0.65112	0.2660	M	0.84156	2.68	0.36408	D	0.863567	D;D	0.58970	0.984;0.98	P;P	0.62491	0.903;0.804	T	0.77024	-0.2741	10	0.72032	D	0.01	.	14.9601	0.71151	0.0681:0.0:0.9319:0.0	.	95;95	Q8N5I3;Q8N5I3-2	KCNRG_HUMAN;.	F	95	ENSP00000353661:V95F;ENSP00000324191:V95F	ENSP00000324191:V95F	V	+	1	0	KCNRG	49487913	1.000000	0.71417	0.996000	0.52242	0.413000	0.31143	3.449000	0.52950	1.541000	0.49316	0.655000	0.94253	GTT	KCNRG	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000198553		0.423	KCNRG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNRG	HGNC	protein_coding	OTTHUMT00000276308.1		0	41	0	G			50589912	1			no_errors	ENST00000312942	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T	T	50589912	G	T	50589912	3	4	13	1	0	0	0	0	1	0	0	0	8114	1029	36	3	285	3	KCNRG	13	50589912	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8640275	50589912	64579966	477	4023											
PCDH20	64881	genome.wustl.edu	37	chr13	61986873	61986873	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggatctcttatggtgaaAaacgcaatgggagtgttaac	12	12	11	6	1	2	1	0	1	2	0	3	3	2	3	0	3	2	2	0	3	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:61986873A>C	ENST00000409186.1	-	5	3464	c.1359T>G	c.(1357-1359)ttT>ttG	p.F453L	PCDH20_ENST00000409204.4_Missense_Mutation_p.F453L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	453	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TTATGGTGAAAAACGCAATGG	0.413																																																	0													102	103	103					13																	61986873		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1359T>G	13.37:g.61986873A>C	ENSP00000386653:p.Phe453Leu		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F453L	ENST00000409186.1	37	c.1359	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	A	2.720	-0.266715	0.05754	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.59364	0.27;0.27	5.6	0.953	0.19590	.	0.000000	0.64402	D	0.000003	T	0.24236	0.0587	N	0.10733	0.035	0.58432	D	0.999994	P	0.34864	0.473	B	0.24848	0.056	T	0.35450	-0.9788	10	0.02654	T	1	.	8.6294	0.33911	0.7151:0.0:0.2849:0.0	.	453	A8K1K9	.	L	453;453;199	ENSP00000387250:F453L;ENSP00000386653:F453L	ENSP00000351500:F199L	F	-	3	2	PCDH20	60884874	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.156000	0.42310	0.004000	0.14682	0.528000	0.53228	TTT	PCDH20	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197991		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0	36	0	A	NM_022843		61986873	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C	C	61986873	A	C	61986873	3	2	13	1	0	0	0	0	1	0	0	0	11554	11	1	4	1500	4	PCDH20	13	61986873	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	11396961	61986873	53183005	478	4024											
UBAC2	337867	genome.wustl.edu	37	chr13	99970286	99970286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttttatagcttttcacctCtggttcctacatctggattg	6	19	6	10	0	4	0	1	0	3	0	5	1	5	1	2	2	2	2	2	2	3	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:99970286C>G	ENST00000403766.3	+	6	659	c.524C>G	c.(523-525)tCt>tGt	p.S175C	UBAC2_ENST00000460562.1_3'UTR|UBAC2_ENST00000376440.2_Missense_Mutation_p.S140C	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	175					protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTTTCACCTCTGGTTCCTAC	0.343																																																	0													117	110	113					13																	99970286		2203	4300	6503	SO:0001583	missense	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"phosphoglycerate dehydrogenase like 1"	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.524C>G	13.37:g.99970286C>G	ENSP00000383911:p.Ser175Cys		B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S140C	ENST00000403766.3	37	c.419	CCDS45064.1	13	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504555	0.85176	.	.	ENSG00000134882	ENST00000403766;ENST00000376440	T	0.12147	2.71	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	P;D;D;P	0.87578	0.894;0.998;0.922;0.846	T	0.09100	-1.0690	9	.	.	.	-23.9245	19.848	0.96722	0.0:1.0:0.0:0.0	.	105;140;175;175	B7Z6T7;Q8NBM4-2;A8K2S7;Q8NBM4	.;.;.;UBAC2_HUMAN	C	175;140	ENSP00000383911:S175C	.	S	+	2	0	UBAC2	98768287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.858000	0.69532	2.937000	0.99478	0.650000	0.86243	TCT	UBAC2	-	NULL	ENSG00000134882		0.343	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	HGNC	protein_coding	OTTHUMT00000045588.1	-	0	52	0	C	NM_177967		99970286	1	tier1	-	no_errors	ENST00000376440	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	G	G	99970286	C	G	99970286	3	3	13	1	0	0	0	0	1	0	0	0	16884	913	32	5	706	5	UBAC2	13	99970286	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	37983413	99970286	15199592	479	4025											
ZNF828	283489	genome.wustl.edu	37	chr13	115091142	115091142	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacctaagaaactcttaGaagatactttatttccttcc	12	15	3	11	0	2	3	1	0	1	3	4	3	4	3	3	0	2	0	3	0	6	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr13:115091142G>T	ENST00000361283.1	+	3	2134	c.1825G>T	c.(1825-1827)Gaa>Taa	p.E609*		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	609	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GAAACTCTTAGAAGATACTTT	0.368																																																	0													124	140	135					13																	115091142		2203	4300	6503	SO:0001587	stop_gained	0			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1825G>T	13.37:g.115091142G>T	ENSP00000354730:p.Glu609*		B3KU06|Q6P181|Q8NC88|Q9BST0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E609*	ENST00000361283.1	37	c.1825	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.260813	0.97421	.	.	ENSG00000198824	ENST00000361283	.	.	.	5.27	5.27	0.74061	.	0.106382	0.40640	N	0.001048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3177	19.2843	0.94065	0.0:0.0:1.0:0.0	.	.	.	.	X	609	.	.	E	+	1	0	ZNF828	114109244	1.000000	0.71417	0.929000	0.37066	0.415000	0.31203	5.518000	0.67068	2.636000	0.89361	0.655000	0.94253	GAA	CHAMP1	-	NULL	ENSG00000198824		0.368	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2		0	61	0	G	NM_032436		115091142	1			no_errors	ENST00000361283	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.994	T	T	115091142	G	T	115091142	4	4	13	1	0	0	0	0	0	1	0	0	18229	943	33	3	1827	3	ZNF828	13	115091142	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	15120856	115091142	78736	480	4026											
POTEG	404785	genome.wustl.edu	37	chr14	19571402	19571402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggcttaaaggaagtgAaaatagccagccagaggcat	18	5	11	7	0	0	2	0	1	0	1	0	3	0	3	2	3	2	2	2	3	7	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:19571402A>G	ENST00000409832.3	+	7	1233	c.1181A>G	c.(1180-1182)gAa>gGa	p.E394G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	394										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGGAAGTGAAAATAGCCAG	0.303																																																	0													20	26	24					14																	19571402		2056	3974	6030	SO:0001583	missense	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1181A>G	14.37:g.19571402A>G	ENSP00000386971:p.Glu394Gly		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E394G	ENST00000409832.3	37	c.1181	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	a	7.651	0.682960	0.14907	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	1.18	1.18	0.20946	.	.	.	.	.	T	0.19406	0.0466	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19844	-1.0293	9	0.48119	T	0.1	.	4.5755	0.12232	1.0:0.0:0.0:0.0	.	394	Q6S5H5	POTEG_HUMAN	G	394	ENSP00000386971:E394G	ENSP00000386971:E394G	E	+	2	0	POTEG	18641402	0.725000	0.28048	0.148000	0.22405	0.358000	0.29455	2.073000	0.41519	0.792000	0.33850	0.155000	0.16302	GAA	POTEG	-	NULL	ENSG00000222036		0.303	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	-	0	600	0	A	NM_001005356		19571402	1	tier1	-	no_errors	ENST00000409832	ensembl	human	known	74_37	missense	8.56	598	56	SNP	0.221	G	G	19571402	A	G	19571402	3	3	13	1	0	0	0	0	1	0	0	0	12305	246	9	4	1207	4	POTEG	14	19571402	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09		19571402	87778138	481	4027											
MYH7	4625	genome.wustl.edu	37	chr14	23885406	23885406	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacccgcaggtggttgcgcTtggcctgttccatctcctcg	3	11	11	16	3	1	0	0	0	1	0	4	0	2	0	5	3	1	4	5	3	0	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:23885406T>G	ENST00000355349.3	-	34	4922	c.4760A>C	c.(4759-4761)aAg>aCg	p.K1587T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1587					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTGGTTGCGCTTGGCCTGTTC	0.617																																																	0													180	158	165					14																	23885406		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4760A>C	14.37:g.23885406T>G	ENSP00000347507:p.Lys1587Thr		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1587T	ENST00000355349.3	37	c.4760	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092893	0.76756	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80909	-1.43	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.90779	0.7105	M	0.90922	3.16	0.58432	D	0.999999	D	0.53619	0.961	D	0.64410	0.925	D	0.92889	0.6329	9	0.87932	D	0	.	14.3618	0.66776	0.0:0.0:0.0:1.0	.	1587	P12883	MYH7_HUMAN	T	1587;1592	ENSP00000347507:K1587T	ENSP00000347507:K1587T	K	-	2	0	MYH7	22955246	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.611000	0.67674	2.052000	0.61016	0.533000	0.62120	AAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	53	0	T	NM_000257		23885406	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	G	G	23885406	T	G	23885406	3	3	13	1	0	0	0	0	1	0	0	0	10077	1609	56	4	1075	4	MYH7	14	23885406	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4314004	23885406	83464134	482	4028											
FAM158A	51016	genome.wustl.edu	37	chr14	24610321	24610321	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaacggaggcacctggtTgagggcgacctccaacatga	11	6	12	12	2	0	2	0	2	0	0	2	4	2	3	4	4	2	2	4	4	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:24610321T>G	ENST00000419198.2	-	1	473	c.193A>C	c.(193-195)Aac>Cac	p.N65H	PSME2_ENST00000471700.2_5'Flank|EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000216799.4_Missense_Mutation_p.N65H			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	65						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											GGCACCTGGTTGAGGGCGACC	0.662											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80	87	85					14																	24610321		2203	4300	6503	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 122", "family with sequence similarity 158, member A"	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.193A>C	14.37:g.24610321T>G	ENSP00000403210:p.Asn65His	772	D3DS60|Q9BUM3	Missense_Mutation	SNP	pfam_UPF0172	p.N65H	ENST00000419198.2	37	c.193	CCDS9613.1	14	.	.	.	.	.	.	.	.	.	.	T	17.98	3.519652	0.64634	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.42900	0.96;0.96	5.84	4.67	0.58626	.	0.104388	0.64402	N	0.000006	T	0.33235	0.0856	L	0.33485	1.01	0.33521	D	0.59242	B	0.22909	0.077	B	0.23419	0.046	T	0.42515	-0.9447	10	0.54805	T	0.06	-11.3692	11.38	0.49752	0.0:0.0:0.152:0.848	.	65	Q9Y3B6	F158A_HUMAN	H	65	ENSP00000403210:N65H;ENSP00000216799:N65H	ENSP00000216799:N65H	N	-	1	0	FAM158A	23680161	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.376000	0.52417	1.011000	0.39340	0.459000	0.35465	AAC	EMC9	-	pfam_UPF0172	ENSG00000100908		0.662	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	-	0	76	0	T	NM_016049		24610321	-1	tier1	-	no_errors	ENST00000216799	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	G	G	24610321	T	G	24610321	3	3	13	1	0	0	0	0	1	0	0	0	5486	1812	63	4	453	4	FAM158A	14	24610321	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	724915	24610321	82739219	483	4029											
FOXG1	2290	genome.wustl.edu	37	chr14	29237018	29237018	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgagaagaagaacggcaAgtacgagaagccgccgttca	14	3	15	9	5	1	4	1	0	0	4	1	6	1	4	2	2	3	3	2	2	6	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:29237018A>C	ENST00000313071.4	+	1	732	c.533A>C	c.(532-534)aAg>aCg	p.K178T	RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.K178T|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	178					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		aagAACGGCAAGTACGAGAAG	0.662																																																	0													31	33	32					14																	29237018		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.533A>C	14.37:g.29237018A>C	ENSP00000339004:p.Lys178Thr		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.K178T	ENST00000313071.4	37	c.533	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	A	16.32	3.090471	0.55968	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94138	-3.36;-3.36	3.09	3.09	0.35607	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.728854	0.13089	U	0.414670	D	0.93099	0.7803	N	0.21282	0.65	0.44181	D	0.99699	D	0.64830	0.994	D	0.73708	0.981	D	0.90863	0.4740	10	0.52906	T	0.07	.	10.9614	0.47387	1.0:0.0:0.0:0.0	.	178	P55316	FOXG1_HUMAN	T	178	ENSP00000371975:K178T;ENSP00000339004:K178T	ENSP00000339004:K178T	K	+	2	0	FOXG1	28306769	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.901000	0.69861	1.040000	0.40099	0.248000	0.18094	AAG	FOXG1	-	NULL	ENSG00000176165		0.662	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	45	0	A			29237018	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	34.62	16	9	SNP	1.000	C	C	29237018	A	C	29237018	3	2	13	1	0	0	0	0	1	0	0	0	6031	72	3	4	535	4	FOXG1	14	29237018	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4626697	29237018	78112522	484	4030											
PRKD1	5587	genome.wustl.edu	37	chr14	30105588	30105588	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccattgccatctctgcatcTtggaccattgcttcttccat	6	15	6	14	0	3	0	0	0	3	0	5	1	4	1	4	1	3	2	4	1	0	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:30105588T>G	ENST00000331968.5	-	7	1327	c.1098A>C	c.(1096-1098)caA>caC	p.Q366H	PRKD1_ENST00000551644.1_5'Flank|PRKD1_ENST00000415220.2_Missense_Mutation_p.Q374H	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	366					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTCTGCATCTTGGACCATTG	0.522																																																	0													352	257	289					14																	30105588		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1098A>C	14.37:g.30105588T>G	ENSP00000333568:p.Gln366His		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.Q366H	ENST00000331968.5	37	c.1098	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	T	13.19	2.162220	0.38217	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65916	-0.18;-0.18	6.17	-3.68	0.04463	.	0.490881	0.21071	N	0.080662	T	0.29817	0.0745	N	0.03608	-0.345	0.28761	N	0.900928	B	0.02656	0.0	B	0.01281	0.0	T	0.08848	-1.0702	10	0.48119	T	0.1	-14.1855	6.5672	0.22519	0.1018:0.4925:0.0955:0.3102	.	366	Q15139	KPCD1_HUMAN	H	366;374	ENSP00000333568:Q366H;ENSP00000390535:Q374H	ENSP00000333568:Q366H	Q	-	3	2	PRKD1	29175339	0.016000	0.18221	0.967000	0.41034	0.922000	0.55478	-0.942000	0.03921	-0.548000	0.06199	-0.256000	0.11100	CAA	PRKD1	-	NULL	ENSG00000184304		0.522	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0	46	0	T	NM_002742		30105588	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.293	G	G	30105588	T	G	30105588	3	3	13	1	0	0	0	0	1	0	0	0	12560	1606	56	4	1688	4	PRKD1	14	30105588	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	868570	30105588	77243952	485	4031											
FSCB	84075	genome.wustl.edu	37	chr14	44974872	44974872	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatagctgttgaaagctgaAgttctcgagcctcttctcta	9	13	8	11	1	3	2	0	2	3	0	5	3	3	2	2	0	3	4	2	0	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:44974872A>C	ENST00000340446.4	-	1	1610	c.1319T>G	c.(1318-1320)cTt>cGt	p.L440R	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	440						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAAAGCTGAAGTTCTCGAGC	0.507																																																	0													21	22	21					14																	44974872		2163	4282	6445	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1319T>G	14.37:g.44974872A>C	ENSP00000344579:p.Leu440Arg		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.L440R	ENST00000340446.4	37	c.1319	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	A	4.487	0.090202	0.08632	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.15834	2.39	4.45	-7.24	0.01475	.	.	.	.	.	T	0.08223	0.0205	L	0.43152	1.355	0.09310	N	1	B	0.28850	0.225	B	0.20384	0.029	T	0.35992	-0.9766	9	0.16420	T	0.52	.	1.0339	0.01544	0.1472:0.2302:0.282:0.3405	.	440	Q5H9T9	FSCB_HUMAN	R	440	ENSP00000344579:L440R	ENSP00000344579:L440R	L	-	2	0	FSCB	44044622	0.052000	0.20516	0.000000	0.03702	0.016000	0.09150	0.458000	0.21892	-1.304000	0.02329	-0.414000	0.06135	CTT	FSCB	-	NULL	ENSG00000189139		0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	-	0	49	0	A	NM_032135		44974872	-1	tier1	-	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	C	C	44974872	A	C	44974872	3	2	13	1	0	0	0	0	1	0	0	0	6090	72	3	4	1162	4	FSCB	14	44974872	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	14869284	44974872	62374668	486	4032											
FANCM	57697	genome.wustl.edu	37	chr14	45628400	45628400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaatgctttcacagcatCagccaattattagagtaatg	15	11	7	8	0	2	2	2	0	0	2	2	2	2	2	1	0	3	3	1	0	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:45628400C>T	ENST00000267430.5	+	9	1583	c.1498C>T	c.(1498-1500)Cag>Tag	p.Q500*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q474*|FANCM_ENST00000556036.1_Nonsense_Mutation_p.Q500*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	500	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTCACAGCATCAGCCAATTAT	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													61	59	60					14																	45628400		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1498C>T	14.37:g.45628400C>T	ENSP00000267430:p.Gln500*		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q500*	ENST00000267430.5	37	c.1498	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.304161	0.97458	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564;ENST00000556250	.	.	.	5.39	4.49	0.54785	.	1.191400	0.05758	N	0.604451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	13.6702	0.62420	0.2801:0.7199:0.0:0.0	.	.	.	.	X	500;500;474;85	.	ENSP00000267430:Q500X	Q	+	1	0	FANCM	44698150	0.033000	0.19621	0.991000	0.47740	0.978000	0.69477	1.231000	0.32624	1.222000	0.43521	0.563000	0.77884	CAG	FANCM	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000187790		0.398	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	111	0	C	XM_048128		45628400	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	nonsense	22.00	78	22	SNP	0.999	T	T	45628400	C	T	45628400	4	4	13	1	0	0	0	0	0	1	0	0	5693	827	29	3	1532	3	FANCM	14	45628400	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	653528	45628400	61721140	487	4033											
SOCS4	122809	genome.wustl.edu	37	chr14	55510261	55510261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtaagcacagacttgtctCagactgaattgagggatggt	11	10	14	6	0	1	4	1	2	1	2	2	5	1	5	0	3	1	2	0	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:55510261C>G	ENST00000395472.2	+	2	834	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	SOCS4_ENST00000555846.1_Missense_Mutation_p.Q168E|SOCS4_ENST00000339298.2_Missense_Mutation_p.Q168E	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	168					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AGACTTGTCTCAGACTGAATT	0.403																																																	0													71	67	68					14																	55510261		2203	4300	6503	SO:0001583	missense	0			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.502C>G	14.37:g.55510261C>G	ENSP00000378855:p.Gln168Glu			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.Q168E	ENST00000395472.2	37	c.502	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	C	0.230	-1.021923	0.02061	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.28255	1.62;1.62;1.62	5.45	1.15	0.20763	.	1.204460	0.05763	N	0.605197	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25328	-1.0135	10	0.21540	T	0.41	-0.0443	13.3427	0.60553	0.0:0.3911:0.5389:0.07	.	168	Q8WXH5	SOCS4_HUMAN	E	168	ENSP00000378855:Q168E;ENSP00000452522:Q168E;ENSP00000341327:Q168E	ENSP00000341327:Q168E	Q	+	1	0	SOCS4	54580014	0.001000	0.12720	0.148000	0.22405	0.729000	0.41735	0.541000	0.23207	0.353000	0.24079	0.650000	0.86243	CAG	SOCS4	-	NULL	ENSG00000180008		0.403	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	-	0	56	0	C			55510261	1	tier1	-	no_errors	ENST00000339298	ensembl	human	known	74_37	missense	40.54	44	30	SNP	0.007	G	G	55510261	C	G	55510261	3	3	13	1	0	0	0	0	1	0	0	0	14961	827	29	5	504	5	SOCS4	14	55510261	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	9881861	55510261	51839279	488	4034											
KTN1	3895	genome.wustl.edu	37	chr14	56113725	56113725	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaacaaatggaaaaatGgtaagagtttagttttcttt	14	15	10	2	0	1	1	0	0	1	1	1	3	1	3	0	3	1	3	0	3	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:56113725G>T	ENST00000395314.3	+	19	2275	c.2207G>T	c.(2206-2208)tGc>tTc	p.C736F	KTN1_ENST00000416613.1_Splice_Site_p.C736F|KTN1_ENST00000438792.2_Splice_Site_p.C736F|KTN1_ENST00000554507.1_Splice_Site_p.C31F|KTN1_ENST00000395309.3_Splice_Site_p.C736F|KTN1_ENST00000395308.1_Splice_Site_p.C736F|KTN1_ENST00000413890.2_Splice_Site_p.C736F|KTN1_ENST00000395311.1_Splice_Site_p.C736F	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	736					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						ATGGAAAAATGGTAAGAGTTT	0.254			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													87	88	87					14																	56113725		2201	4290	6491	SO:0001630	splice_region_variant	0				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2207+1G>T	14.37:g.56113725G>T			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.C736F	ENST00000395314.3	37	c.2207	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986459	0.53934	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000554890	T;T;T;T;T;T;T;T	0.42513	1.52;1.53;1.47;1.53;1.52;1.52;1.53;0.97	4.48	3.55	0.40652	.	0.338094	0.25587	N	0.029651	T	0.45357	0.1338	L	0.29908	0.895	0.42190	D	0.991728	D;D;D;P;D	0.62365	0.98;0.987;0.991;0.816;0.98	P;P;P;P;P	0.55713	0.648;0.782;0.735;0.477;0.648	T	0.48843	-0.8999	10	0.56958	D	0.05	-2.1272	14.5718	0.68216	0.0:0.1473:0.8527:0.0	.	736;31;736;736;736	B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;KTN1_HUMAN	F	736;736;736;736;736;736;736;31;31	ENSP00000394992:C736F;ENSP00000378720:C736F;ENSP00000391964:C736F;ENSP00000378725:C736F;ENSP00000378719:C736F;ENSP00000378722:C736F;ENSP00000388807:C736F;ENSP00000452073:C31F	ENSP00000378719:C736F	C	+	2	0	KTN1	55183478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.877000	0.69675	1.165000	0.42670	0.585000	0.79938	TGC	KTN1	-	NULL	ENSG00000126777		0.254	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2		0	79	0	G		Missense_Mutation	56113725	1			no_errors	ENST00000395309	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	56113725	G	T	56113725	5	4	13	1	0	0	0	0	0	0	1	0	8613	1362	47	3	2277	3	KTN1	14	56113725	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	603464	56113725	51235815	489	4035											
PSMA3	5684	genome.wustl.edu	37	chr14	58730477	58730477	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcaaagacggaaataGagaagcttcaggtaataatt	18	8	10	5	1	1	2	1	0	0	2	1	4	1	3	0	2	3	4	0	2	7	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:58730477G>T	ENST00000216455.4	+	7	622	c.532G>T	c.(532-534)Gag>Tag	p.E178*	RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|PSMA3_ENST00000557508.1_Nonsense_Mutation_p.E103*|CTD-2002H8.2_ENST00000557322.1_RNA|PSMA3_ENST00000412908.2_Nonsense_Mutation_p.E171*	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	178					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)	p.E178Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GACGGAAATAGAGAAGCTTCA	0.368																																																	1	Substitution - Missense(1)	NS(1)											86	95	92					14																	58730477		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.532G>T	14.37:g.58730477G>T	ENSP00000216455:p.Glu178*		B2RCK6|Q86U83|Q8N1D8|Q9BS70	Nonsense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E178*	ENST00000216455.4	37	c.532	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.575649	0.97676	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.3787	18.7658	0.91871	0.0:0.0:1.0:0.0	.	.	.	.	X	178;171;103	.	ENSP00000216455:E178X	E	+	1	0	PSMA3	57800230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.931000	0.92884	2.503000	0.84419	0.557000	0.71058	GAG	PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.368	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1		0	36	0	G	NM_002788		58730477	1			no_errors	ENST00000216455	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	1.000	T	T	58730477	G	T	58730477	4	4	13	1	0	0	0	0	0	1	0	0	12710	943	33	3	558	3	PSMA3	14	58730477	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2616752	58730477	48619063	490	4036											
PCNX	22990	genome.wustl.edu	37	chr14	71413732	71413732	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcgactacacagagcacTtgatgctggagaagttgtag	12	10	11	8	1	0	3	0	1	0	2	1	5	0	3	0	1	3	4	0	1	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:71413732T>G	ENST00000304743.2	+	2	700	c.254T>G	c.(253-255)cTt>cGt	p.L85R	PCNX_ENST00000238570.5_Missense_Mutation_p.L85R|PCNX_ENST00000439984.3_Missense_Mutation_p.L85R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	85						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CACAGAGCACTTGATGCTGGA	0.433																																																	0													128	109	115					14																	71413732		2203	4300	6503	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.254T>G	14.37:g.71413732T>G	ENSP00000304192:p.Leu85Arg		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.L85R	ENST00000304743.2	37	c.254	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582393	0.65992	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.62498	0.02;0.02;0.02	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	L	0.55481	1.735	0.54753	D	0.999989	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.996;0.996;0.999	T	0.77101	-0.2712	10	0.59425	D	0.04	.	16.6	0.84812	0.0:0.0:0.0:1.0	.	85;85;85	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	R	85	ENSP00000304192:L85R;ENSP00000238570:L85R;ENSP00000396617:L85R	ENSP00000238570:L85R	L	+	2	0	PCNX	70483485	1.000000	0.71417	0.759000	0.31340	0.991000	0.79684	6.423000	0.73361	2.323000	0.78572	0.533000	0.62120	CTT	PCNX	-	NULL	ENSG00000100731		0.433	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0	45	0	T	NM_014982		71413732	1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.974	G	G	71413732	T	G	71413732	3	3	13	1	0	0	0	0	1	0	0	0	11630	1609	56	4	260	4	PCNX	14	71413732	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	12683255	71413732	35935808	491	4037											
C14orf43	91748	genome.wustl.edu	37	chr14	74206049	74206049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccggttcacctggtggccGaatgccagctggaagggttg	6	9	16	10	2	1	0	1	0	0	0	1	2	1	1	4	5	3	3	4	5	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:74206049G>A	ENST00000286523.5	-	2	1445	c.663C>T	c.(661-663)ttC>ttT	p.F221F	ELMSAN1_ENST00000394071.2_Silent_p.F221F|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	221	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCTGGTGGCCGAATGCCAGCT	0.652																																																	0													38	41	40					14																	74206049		2203	4300	6503	SO:0001819	synonymous_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.663C>T	14.37:g.74206049G>A			Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.F221	ENST00000286523.5	37	c.663	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL	ENSG00000156030		0.652	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0	139	0	G	NM_194278		74206049	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	silent	11.02	113	14	SNP	0.995	A	A	74206049	G	A	74206049	2	1	13	1	0	0	0	0	0	0	0	1	1779	1049	37	1		1	C14orf43	14	74206049	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2792317	74206049	33143491	492	4038											
ZNF410	57862	genome.wustl.edu	37	chr14	74371668	74371668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttctatgtgctgcagagGctgaaggtgcacatgaggac	10	9	14	8	0	1	3	0	2	1	1	1	4	1	4	0	3	4	5	0	3	2	2	rs375182218		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:74371668G>A	ENST00000555044.1	+	7	989	c.795G>A	c.(793-795)agG>agA	p.R265R	Y_RNA_ENST00000362602.1_RNA|ZNF410_ENST00000540593.1_Silent_p.R192R|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Silent_p.R265R|RP5-1021I20.6_ENST00000602874.1_RNA|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000334521.4_Silent_p.R212R|ZNF410_ENST00000442160.3_Silent_p.R282R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGCTGCAGAGGCTGAAGGTGC	0.453																																																	0								G	,,,,	0,4406		0,0,2203	98	87	91		846,795,576,207,795	2.6	1	14		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF410	NM_001242924.1,NM_001242926.1,NM_001242927.1,NM_001242928.1,NM_021188.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	282/517,265/432,192/406,69/313,265/479	74371668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"Zinc fingers, C2H2-type"	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.795G>A	14.37:g.74371668G>A			B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A256T	ENST00000555044.1	37	c.766	CCDS9821.1	14	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595100	0.28445	0.0	1.16E-4	ENSG00000119725	ENST00000555602	.	.	.	5.55	2.57	0.30868	.	.	.	.	.	T	0.60843	0.2300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61564	-0.7037	5	0.87932	D	0	.	5.8768	0.18834	0.2991:0.1372:0.5636:0.0	.	.	.	.	D	79	.	ENSP00000443318:G162D	G	+	2	0	ZNF410	73441421	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	2.999000	0.49473	0.907000	0.36646	-0.140000	0.14226	GGC	ZNF410	-	NULL	ENSG00000119725		0.453	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF410	HGNC	protein_coding	OTTHUMT00000412597.1	-	0	69	0	G	NM_021188		74371668	1	tier1	-	no_errors	ENST00000398139	ensembl	human	known	74_37	missense	29.41	47	20	SNP	1.000	A	A	74371668	G	A	74371668	2	1	13	1	0	0	0	0	0	0	0	1	17938	1194	42	3		3	ZNF410	14	74371668	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	165619	74371668	32977872	493	4039											
PTPN21	11099	genome.wustl.edu	37	chr14	88946419	88946419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagctgcttcatcacagtCtcatagtctggggtggggcg	6	12	14	9	1	4	1	3	1	2	0	5	1	4	1	0	4	2	2	0	4	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:88946419C>G	ENST00000556564.1	-	13	1640	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D	PTPN21_ENST00000328736.3_Missense_Mutation_p.E452D	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	452					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATCACAGTCTCATAGTCTG	0.627																																																	0													52	43	46					14																	88946419		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1356G>C	14.37:g.88946419C>G	ENSP00000452414:p.Glu452Asp			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.E452D	ENST00000556564.1	37	c.1356	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895276	0.52121	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.78126	-1.15;-1.15	5.5	3.34	0.38264	.	0.000000	0.85682	D	0.000000	D	0.84660	0.5521	M	0.69823	2.125	0.36093	D	0.843591	D	0.71674	0.998	D	0.75484	0.986	D	0.87229	0.2259	10	0.59425	D	0.04	.	8.9746	0.35928	0.0:0.6801:0.1799:0.14	.	452	Q16825	PTN21_HUMAN	D	452	ENSP00000330276:E452D;ENSP00000452414:E452D	ENSP00000330276:E452D	E	-	3	2	PTPN21	88016172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.146000	0.31589	1.218000	0.43458	0.561000	0.74099	GAG	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.627	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0	64	0	C			88946419	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	G	G	88946419	C	G	88946419	3	3	13	1	0	0	0	0	1	0	0	0	12831	912	32	5	2196	5	PTPN21	14	88946419	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	14574751	88946419	18403121	494	4040											
MOAP1	64112	genome.wustl.edu	37	chr14	93650010	93650010	+	Frame_Shift_Del	DEL	T	T	-																															catctggcacctgccacgccTttatcatctgagtagtatga																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:93650010delT	ENST00000556883.1	-	2	1062	c.578delA	c.(577-579)aagfs	p.K193fs	RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Frame_Shift_Del_p.K193fs|TMEM251_ENST00000415050.2_5'Flank			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	193					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctgccacgcctttatcatctg	0.468																																																	0													62	68	66					14																	93650010		2203	4300	6503	SO:0001589	frameshift_variant	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"Paraneoplastic Ma antigens"	16658	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 4"	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.578delA	14.37:g.93650010delT	ENSP00000451594:p.Lys193fs		B2RDF6|Q9H833|Q9HAS1	Frame_Shift_Del	DEL	NULL	p.K193fs	ENST00000556883.1	37	c.578	CCDS9908.1	14																																																																																			MOAP1	-	NULL	ENSG00000165943		0.468	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MOAP1	HGNC	protein_coding	OTTHUMT00000412685.1		0	46	0	T			93650010	-1	tier1		no_errors	ENST00000298894	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.127	-	-	93650010	T	-	93650010	7	5	13	1	0	1	0	1	0	0	0	0	9718	1609	56	0	481	0	MOAP1	14	93650010	Frame_Shift_Del	DEL	T	TCGA-IC-A6RE-01A-11D-A33E-09	4703591	93650010	13699530	495	4041											
BCL11B	64919	genome.wustl.edu	37	chr14	99640661	99640661	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgtggcgcgtgagctTgctgctctgcgcgcacgcgt	3	11	14	13	6	2	1	1	1	1	0	2	1	2	1	0	1	4	4	0	1	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:99640661T>A	ENST00000357195.3	-	4	2521	c.2512A>T	c.(2512-2514)Aag>Tag	p.K838*	BCL11B_ENST00000443726.2_Nonsense_Mutation_p.K644*|BCL11B_ENST00000345514.2_Nonsense_Mutation_p.K767*	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	838					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CGCGTGAGCTTGCTGCTCTGC	0.622			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													76	61	66					14																	99640661		2203	4300	6503	SO:0001587	stop_gained	0			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2512A>T	14.37:g.99640661T>A	ENSP00000349723:p.Lys838*		Q9H162	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K838*	ENST00000357195.3	37	c.2512	CCDS9950.1	14	.	.	.	.	.	.	.	.	.	.	T	40	8.110589	0.98659	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	.	.	.	4.7	4.7	0.59300	.	0.072299	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.291	14.4363	0.67282	0.0:0.0:0.0:1.0	.	.	.	.	X	838;767;644	.	ENSP00000280435:K767X	K	-	1	0	BCL11B	98710414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.630000	0.83225	1.889000	0.54706	0.379000	0.24179	AAG	BCL11B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127152		0.622	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	HGNC	protein_coding	OTTHUMT00000072332.2	-	0	29	0	T	NM_138576		99640661	-1	tier1	-	no_errors	ENST00000357195	ensembl	human	known	74_37	nonsense	41.18	10	7	SNP	1.000	A	A	99640661	T	A	99640661	4	1	13	1	0	0	0	0	0	1	0	0	1365	1821	63	5	176	5	BCL11B	14	99640661	Nonsense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	5990651	99640661	7708879	496	4042											
WDR20	91833	genome.wustl.edu	37	chr14	102675425	102675425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccacgggcacaagtcctgGgtcagtgttgtagcgtttga	7	10	15	9	2	1	1	1	1	0	0	2	1	2	1	2	3	1	4	2	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:102675425G>T	ENST00000342702.3	+	3	949	c.918G>T	c.(916-918)tgG>tgT	p.W306C	WDR20_ENST00000556807.1_Missense_Mutation_p.W245C|WDR20_ENST00000556511.2_Missense_Mutation_p.W245C|WDR20_ENST00000335263.5_Missense_Mutation_p.W306C|WDR20_ENST00000545563.1_Missense_Mutation_p.W133C|WDR20_ENST00000424963.2_Missense_Mutation_p.W182C|WDR20_ENST00000499851.2_Missense_Mutation_p.W49C|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.W337C	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	306										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ACAAGTCCTGGGTCAGTGTTG	0.512																																																	0													91	76	81					14																	102675425		2203	4300	6503	SO:0001583	missense	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.918G>T	14.37:g.102675425G>T	ENSP00000341037:p.Trp306Cys		B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W337C	ENST00000342702.3	37	c.1011	CCDS9969.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.11|17.11	3.305788|3.305788	0.60305|0.60305	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000556511|ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563	.|T;T;T;T;T;T;T	.|0.51325	.|0.71;2.3;0.71;2.3;3.3;0.71;0.71	5.46|5.46	5.46|5.46	0.80206|0.80206	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74658|0.74658	0.3745|0.3745	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0;1.0;0.99;1.0	T|T	0.79254|0.79254	-0.1879|-0.1879	5|10	.|0.87932	.|D	.|0	.|.	19.3216|19.3216	0.94243|0.94243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|337;318;245;306;245;182;306	.|E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.|.;.;.;.;.;.;WDR20_HUMAN	C|C	237|306;245;182;306;245;49;337;236;133	.|ENSP00000335434:W306C;ENSP00000395793:W182C;ENSP00000341037:W306C;ENSP00000450636:W245C;ENSP00000443641:W49C;ENSP00000406084:W337C;ENSP00000437927:W133C	.|ENSP00000299135:W245C	G|W	+|+	1|3	0|0	WDR20|WDR20	101745178|101745178	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.476000|9.476000	0.97823|0.97823	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GGT|TGG	WDR20	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140153		0.512	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1		0	42	0	G	NM_181291		102675425	1			no_errors	ENST00000454394	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	102675425	G	T	102675425	3	4	13	1	0	0	0	0	1	0	0	0	17329	1241	43	3	945	3	WDR20	14	102675425	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3034764	102675425	4674115	497	4043											
KIAA0284	283638	genome.wustl.edu	37	chr14	105359959	105359959	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatgaacgacagctgtGaggacgccctggccaacaag	14	4	12	11	2	0	3	0	2	0	1	0	5	0	4	2	2	4	1	2	2	4	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:105359959G>T	ENST00000414716.3	+	15	4366	c.4138G>T	c.(4138-4140)Gag>Tag	p.E1380*	CEP170B_ENST00000556508.1_Nonsense_Mutation_p.E1345*|CEP170B_ENST00000453495.1_Nonsense_Mutation_p.E1416*|CEP170B_ENST00000418279.1_Nonsense_Mutation_p.E1310*	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1415						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CGACAGCTGTGAGGACGCCCT	0.677																																																	0													15	19	17					14																	105359959		2134	4219	6353	SO:0001587	stop_gained	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4138G>T	14.37:g.105359959G>T	ENSP00000404151:p.Glu1380*		Q2KHR7|Q86TI7	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E1416*	ENST00000414716.3	37	c.4246	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	44	11.081824	0.99513	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	.	.	.	4.22	3.3	0.37823	.	0.954870	0.08720	N	0.903624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.7545	12.5074	0.55989	0.0:0.1684:0.8316:0.0	.	.	.	.	X	1345;1380;1416;1310;48	.	ENSP00000251181:E32X	E	+	1	0	KIAA0284	104431004	0.950000	0.32346	0.025000	0.17156	0.774000	0.43823	1.886000	0.39688	0.858000	0.35431	0.436000	0.28706	GAG	CEP170B	-	NULL	ENSG00000099814		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2		0	110	0	G	NM_001112726		105359959	1			no_errors	ENST00000453495	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.024	T	T	105359959	G	T	105359959	4	4	13	1	0	0	0	0	0	1	0	0	8193	1291	45	3	4192	3	KIAA0284	14	105359959	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2684534	105359959	1989581	498	4044											
JAG2	3714	genome.wustl.edu	37	chr14	105609380	105609380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcccactggttgttggcGctctcctcccgcggcagccg	2	8	15	16	4	1	0	0	0	1	0	3	0	2	0	4	5	1	4	4	5	0	2	rs138204105		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr14:105609380G>A	ENST00000331782.3	-	26	3772	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S	JAG2_ENST00000347004.2_Silent_p.S1085S	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1123					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGTTGTTGGCGCTCTCCTCCC	0.677																																																	0								G	,	1,4389		0,1,2194	17	21	20		3369,3255	3.1	0.5	14	dbSNP_134	20	1,8569		0,1,4284	no	coding-synonymous,coding-synonymous	JAG2	NM_002226.3,NM_145159.1	,	0,2,6478	AA,AG,GG		0.0117,0.0228,0.0154	,	1123/1239,1085/1201	105609380	2,12958	2195	4285	6480	SO:0001819	synonymous_variant	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3369C>T	14.37:g.105609380G>A			Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.S1123	ENST00000331782.3	37	c.3369	CCDS9998.1	14																																																																																			JAG2	-	NULL	ENSG00000184916		0.677	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0	11	0	G			105609380	-1	tier1	rs138204105	no_errors	ENST00000331782	ensembl	human	known	74_37	silent	40.00	6	4	SNP	0.340	A	A	105609380	G	A	105609380	2	1	13	1	0	0	0	0	0	0	0	1	7962	1078	38	1		1	JAG2	14	105609380	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	249421	105609380	1740160	499	4045											
CYFIP1	23191	genome.wustl.edu	37	chr15	22945048	22945048	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccttgtgcaggtggtcacGggctcgggccgccaggaggc	4	6	18	13	4	1	0	1	0	0	0	2	1	1	1	3	6	1	2	3	6	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:22945048G>T	ENST00000313077.7	+	12	1244	c.1119G>T	c.(1117-1119)acG>acT	p.T373T	CYFIP1_ENST00000560848.1_Silent_p.T373T	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGGTGGTCACGGGCTCGGGCC	0.692																																																	0													11	13	12					15																	22945048		2195	4281	6476	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1119G>T	15.37:g.22945048G>T				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.T373	ENST00000313077.7	37	c.1119	CCDS10009.1	15																																																																																			CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.692	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0	32	0	G	NM_014608		22945048	1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.132	T	T	22945048	G	T	22945048	2	4	13	1	0	0	0	0	0	0	0	1	4146	1103	39	2		2	CYFIP1	15	22945048	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		22945048	79586344	500	4046											
MAGEL2	54551	genome.wustl.edu	37	chr15	23889690	23889690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaggcacactccagcttaTtgttggcacggttgatgata	11	11	10	9	1	0	2	0	2	0	0	1	2	1	2	1	3	1	5	1	3	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:23889690T>C	ENST00000532292.1	-	1	1485	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	347	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTCCAGCTTATTGTTGGCACG	0.443																																																	0													81	75	77					15																	23889690		1922	4138	6060	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1391A>G	15.37:g.23889690T>C	ENSP00000433433:p.Asn464Ser			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.N464S	ENST00000532292.1	37	c.1391		15	.	.	.	.	.	.	.	.	.	.	T	8.798	0.932226	0.18131	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.52	-3.2	0.05156	.	.	.	.	.	T	0.15132	0.0365	N	0.16656	0.425	0.09310	N	1	.	.	.	.	.	.	T	0.23332	-1.0191	5	.	.	.	.	0.0597	0.00015	0.2692:0.1862:0.2311:0.3135	.	.	.	.	V	496	.	.	I	-	1	0	MAGEL2	21440783	0.000000	0.05858	0.013000	0.15412	0.981000	0.71138	-0.736000	0.04882	-0.708000	0.05015	-0.605000	0.04089	ATA	MAGEL2	-	pfam_MAGE,pfscan_MAGE	ENSG00000254585		0.443	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	48	0	T	NM_019066		23889690	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.003	C	C	23889690	T	C	23889690	3	2	13	1	0	0	0	0	1	0	0	0	9227	1493	52	4	553	4	MAGEL2	15	23889690	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	944642	23889690	78641702	501	4047											
GABRB3	2562	genome.wustl.edu	37	chr15	26812796	26812796	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgacagaatcgttatcAgtatagagggcatataagtc	14	9	9	9	2	1	2	1	0	0	2	3	3	1	2	1	1	0	3	1	1	6	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:26812796A>T	ENST00000311550.5	-	7	878	c.767T>A	c.(766-768)cTg>cAg	p.L256Q	GABRB3_ENST00000299267.4_Missense_Mutation_p.L256Q|GABRB3_ENST00000541819.2_Missense_Mutation_p.L312Q|GABRB3_ENST00000400188.3_Missense_Mutation_p.L185Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.L171Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	256					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATCGTTATCAGTATAGAGGG	0.418																																																	0													132	112	119					15																	26812796		2203	4300	6503	SO:0001583	missense	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.767T>A	15.37:g.26812796A>T	ENSP00000308725:p.Leu256Gln		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L256Q	ENST00000311550.5	37	c.767	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424757	0.62733	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.982;0.991;0.995	D	0.97965	1.0340	10	0.87932	D	0	.	15.7938	0.78394	1.0:0.0:0.0:0.0	.	312;256;256	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	256;312;256;185;171	ENSP00000308725:L256Q;ENSP00000442408:L312Q;ENSP00000299267:L256Q;ENSP00000383049:L185Q;ENSP00000439169:L171Q	ENSP00000299267:L256Q	L	-	2	0	GABRB3	24363889	1.000000	0.71417	0.972000	0.41901	0.112000	0.19704	9.204000	0.95041	2.322000	0.78497	0.528000	0.53228	CTG	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000166206		0.418	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0	42	0	A			26812796	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	T	T	26812796	A	T	26812796	3	4	13	1	0	0	0	0	1	0	0	0	6192	188	7	5	666	5	GABRB3	15	26812796	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2923106	26812796	75718596	502	4048											
TJP1	7082	genome.wustl.edu	37	chr15	30065440	30065440	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagcagcactcttactgtaGctgtccttcagctggtcctc	7	13	8	13	0	2	0	1	0	1	0	5	0	4	0	2	1	5	5	2	1	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:30065440G>C	ENST00000346128.6	-	3	679	c.205C>G	c.(205-207)Cta>Gta	p.L69V	TJP1_ENST00000356107.6_Missense_Mutation_p.L69V|TJP1_ENST00000400011.2_Missense_Mutation_p.L73V|TJP1_ENST00000545208.2_Missense_Mutation_p.L69V|TJP1_ENST00000495972.2_Missense_Mutation_p.L69V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	69	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTTACTGTAGCTGTCCTTCA	0.463																																					Melanoma(77;681 1843 6309 6570)												0													156	152	153					15																	30065440		2092	4218	6310	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.205C>G	15.37:g.30065440G>C	ENSP00000281537:p.Leu69Val		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.L69V	ENST00000346128.6	37	c.205	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587242	0.46110	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.65	2.63	0.31362	PDZ/DHR/GLGF (4);	0.176313	0.38605	N	0.001630	T	0.66809	0.2827	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;P;D;D	0.83275	0.958;0.904;0.958;0.996	T	0.66520	-0.5903	9	.	.	.	.	11.1428	0.48413	0.1858:0.0:0.8142:0.0	.	62;69;69;73	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	69;73;69;69;69	ENSP00000281537:L69V;ENSP00000382890:L73V;ENSP00000441202:L69V;ENSP00000348416:L69V	.	L	-	1	2	TJP1	27852732	1.000000	0.71417	0.950000	0.38849	0.070000	0.16714	3.406000	0.52637	0.373000	0.24621	0.585000	0.79938	CTA	TJP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000104067		0.463	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0	66	0	G	NM_003257		30065440	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	C	C	30065440	G	C	30065440	3	2	13	1	0	0	0	0	1	0	0	0	15976	962	34	5	5145	5	TJP1	15	30065440	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3252644	30065440	72465952	503	4049											
TRPM1	4308	genome.wustl.edu	37	chr15	31355402	31355402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacaaatcaccacagggatgGgaggctcttcttgcaggtat	11	9	11	10	0	3	0	1	0	2	0	3	2	3	2	1	4	1	3	1	4	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:31355402G>T	ENST00000256552.6	-	8	1031	c.884C>A	c.(883-885)cCc>cAc	p.P295H	TRPM1_ENST00000542188.1_Missense_Mutation_p.P312H|TRPM1_ENST00000397795.2_Missense_Mutation_p.P273H|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CACAGGGATGGGAGGCTCTTC	0.607																																																	0													74	82	79					15																	31355402		2062	4200	6262	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.884C>A	15.37:g.31355402G>T	ENSP00000256552:p.Pro295His			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.P312H	ENST00000256552.6	37	c.935	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132007	0.77662	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.35973	1.28;1.28;1.28	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71787	-0.4487	10	0.87932	D	0	-21.5853	19.6614	0.95875	0.0:0.0:1.0:0.0	.	273;273	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	H	273;312;295;273	ENSP00000380897:P273H;ENSP00000437849:P312H;ENSP00000256552:P295H	ENSP00000256552:P295H	P	-	2	0	TRPM1	29142694	1.000000	0.71417	0.939000	0.37840	0.334000	0.28698	9.813000	0.99286	2.633000	0.89246	0.655000	0.94253	CCC	TRPM1	-	NULL	ENSG00000134160		0.607	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	77	0	G	NM_002420		31355402	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	31355402	G	T	31355402	3	4	13	1	0	0	0	0	1	0	0	0	16633	1232	43	3	4077	3	TRPM1	15	31355402	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1289962	31355402	71175990	504	4050											
RYR3	6263	genome.wustl.edu	37	chr15	34110884	34110884	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgctctcacggagaggAggtcagaaccaccagctcac	12	4	11	14	2	3	2	3	0	1	2	4	4	3	3	2	3	3	3	2	3	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34110884A>G	ENST00000389232.4	+	76	10775	c.10705A>G	c.(10705-10707)Agc>Ggc	p.S3569G	RYR3_ENST00000415757.3_Splice_Site_p.S3564G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3569					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACGGAGAGGAGGTCAGAACC	0.527																																																	0													80	85	83					15																	34110884		2073	4204	6277	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10706+1A>G	15.37:g.34110884A>G			O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S3569G	ENST00000389232.4	37	c.10705	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984936	0.74474	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.96967	-4.19	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	L	0.59436	1.845	0.46542	D	0.999099	D;D	0.67145	0.996;0.991	P;P	0.60473	0.875;0.837	D	0.95648	0.8704	10	0.25751	T	0.34	.	14.8455	0.70257	1.0:0.0:0.0:0.0	.	3564;3569	Q15413-2;Q15413	.;RYR3_HUMAN	G	3569;3568;3564	ENSP00000373884:S3569G	ENSP00000354735:S3564G	S	+	1	0	RYR3	31898176	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.713000	0.74686	2.096000	0.63516	0.533000	0.62120	AGC	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.527	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	37	0	A		Missense_Mutation	34110884	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	12.12	28	4	SNP	1.000	G	G	34110884	A	G	34110884	5	3	13	1	0	0	0	0	0	0	1	0	13815	318	11	4	11007	4	RYR3	15	34110884	Splice_Site	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2755482	34110884	68420508	505	4051											
SLC12A6	9990	genome.wustl.edu	37	chr15	34546623	34546623	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacacaatgacacaggcCaggaaaagtgaggcaaactt	17	5	11	8	0	0	2	0	2	0	0	0	4	0	4	1	4	1	1	1	4	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34546623C>A	ENST00000354181.3	-	9	1536	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	SLC12A6_ENST00000558667.1_Silent_p.L348L|SLC12A6_ENST00000560611.1_Silent_p.L348L|SLC12A6_ENST00000451844.2_Silent_p.L160L|SLC12A6_ENST00000290209.5_Silent_p.L297L|SLC12A6_ENST00000397702.2_Silent_p.L289L|SLC12A6_ENST00000458406.2_Silent_p.L289L|SLC12A6_ENST00000397707.2_Silent_p.L333L|SLC12A6_ENST00000560164.1_Silent_p.L160L|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558589.1_Silent_p.L339L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	348					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TGACACAGGCCAGGAAAAGTG	0.478																																																	0													158	132	141					15																	34546623		2201	4298	6499	SO:0001819	synonymous_variant	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1044G>T	15.37:g.34546623C>A			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L339	ENST00000354181.3	37	c.1017	CCDS58352.1	15																																																																																			SLC12A6	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.478	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0	74	0	C	NM_005135		34546623	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	silent	7.81	58	5	SNP	1.000	A	A	34546623	C	A	34546623	2	1	13	1	0	0	0	0	0	0	0	1	14432	581	21	3		3	SLC12A6	15	34546623	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	435739	34546623	67984769	506	4052											
LPCAT4	254531	genome.wustl.edu	37	chr15	34651894	34651894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgcaggatggtgctgaagCcgtctttgtacagcaggcgg	7	9	17	8	2	1	1	0	1	1	0	1	2	1	2	1	5	5	4	1	5	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:34651894C>G	ENST00000314891.6	-	13	1472	c.1295G>C	c.(1294-1296)gGc>gCc	p.G432A		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	432					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GGTGCTGAAGCCGTCTTTGTA	0.582																																																	0													70	62	65					15																	34651894		2201	4298	6499	SO:0001583	missense	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1295G>C	15.37:g.34651894C>G	ENSP00000317300:p.Gly432Ala		A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.G432A	ENST00000314891.6	37	c.1295	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007031	0.54361	.	.	ENSG00000176454	ENST00000314891	T	0.80033	-1.33	5.62	5.62	0.85841	.	0.168748	0.52532	D	0.000073	T	0.73768	0.3629	N	0.08118	0	0.44579	D	0.997549	D	0.60575	0.988	P	0.54759	0.76	T	0.71797	-0.4484	10	0.16420	T	0.52	-19.2277	16.5781	0.84706	0.0:1.0:0.0:0.0	.	432	Q643R3	LPCT4_HUMAN	A	432	ENSP00000317300:G432A	ENSP00000317300:G432A	G	-	2	0	LPCAT4	32439186	0.981000	0.34729	0.998000	0.56505	0.548000	0.35241	2.587000	0.46128	2.633000	0.89246	0.655000	0.94253	GGC	LPCAT4	-	NULL	ENSG00000176454		0.582	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	-	0	110	0	C	NM_153613		34651894	-1	tier1	-	no_errors	ENST00000314891	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	G	G	34651894	C	G	34651894	3	3	13	1	0	0	0	0	1	0	0	0	8948	739	26	5	287	5	LPCAT4	15	34651894	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	105271	34651894	67879498	507	4053											
C15orf54	400360	genome.wustl.edu	37	chr15	39544511	39544511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagccactcatcacatgAcggagctccctctcaggttc	10	9	8	14	1	3	2	3	1	1	1	6	3	4	3	2	2	2	2	2	2	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:39544511A>G	ENST00000318578.3	+	2	543	c.175A>G	c.(175-177)Acg>Gcg	p.T59A	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T59A	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050). {ECO:0000269|PubMed:15489334}.							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCATCACATGACGGAGCTCCC	0.438																																																	0													256	256	256					15																	39544511		2200	4297	6497	SO:0001583	missense	0				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.175A>G	15.37:g.39544511A>G	ENSP00000323686:p.Thr59Ala		B7ZVZ9	Missense_Mutation	SNP	NULL	p.T59A	ENST00000318578.3	37	c.175	CCDS10049.1	15	.	.	.	.	.	.	.	.	.	.	A	0.343	-0.949524	0.02304	.	.	ENSG00000175746	ENST00000318578	T	0.35789	1.29	4.38	-0.697	0.11284	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.21552	-1.0242	9	0.87932	D	0	.	3.9904	0.09535	0.5159:0.1831:0.301:0.0	.	59	Q8N8G6	CO054_HUMAN	A	59	ENSP00000323686:T59A	ENSP00000323686:T59A	T	+	1	0	C15orf54	37331803	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.945000	0.29056	-0.005000	0.14395	0.533000	0.62120	ACG	C15orf54	-	NULL	ENSG00000175746		0.438	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf54	HGNC	protein_coding	OTTHUMT00000252083.1	-	0	27	0	A	NM_207445		39544511	1	tier1	-	no_errors	ENST00000318578	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	G	G	39544511	A	G	39544511	3	3	13	1	0	0	0	0	1	0	0	0	1807	275	10	4	177	4	C15orf54	15	39544511	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4892617	39544511	62986881	508	4054											
NUSAP1	51203	genome.wustl.edu	37	chr15	41625228	41625228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaacttagccaagagtctgGgtctccgggccaacctgagg	10	7	13	11	1	2	3	0	1	2	2	3	3	2	3	4	3	3	0	4	3	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:41625228G>T	ENST00000559596.1	+	1	160	c.73G>T	c.(73-75)Ggt>Tgt	p.G25C	NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000560747.1_Missense_Mutation_p.G25C|NUSAP1_ENST00000260359.6_Missense_Mutation_p.G25C|NUSAP1_ENST00000450592.2_Missense_Mutation_p.G25C|OIP5_ENST00000220514.3_5'Flank|NUSAP1_ENST00000560177.1_Missense_Mutation_p.G25C|NUSAP1_ENST00000450318.1_Missense_Mutation_p.G25C|NUSAP1_ENST00000414849.2_Missense_Mutation_p.G25C			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	25					establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CAAGAGTCTGGGTCTCCGGGC	0.647																																																	0													33	34	34					15																	41625228		1898	4122	6020	SO:0001583	missense	0			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.73G>T	15.37:g.41625228G>T	ENSP00000453403:p.Gly25Cys		B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	Missense_Mutation	SNP	NULL	p.G25C	ENST00000559596.1	37	c.73	CCDS45234.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.086757	0.94100	.	.	ENSG00000137804	ENST00000260359;ENST00000414849;ENST00000450318;ENST00000450592	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.66524	-0.5902	10	0.87932	D	0	.	17.4736	0.87653	0.0:0.0:1.0:0.0	.	25;25;25;25;25;25;25	E7ERR5;E9PB35;Q9BXS6-3;Q9BXS6-5;A8K4B4;Q9BXS6;Q9BXS6-2	.;.;.;.;.;NUSAP_HUMAN;.	C	25	ENSP00000260359:G25C;ENSP00000400746:G25C;ENSP00000401351:G25C;ENSP00000401014:G25C	ENSP00000260359:G25C	G	+	1	0	NUSAP1	39412520	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.436000	0.66538	2.861000	0.98227	0.655000	0.94253	GGT	NUSAP1	-	NULL	ENSG00000137804		0.647	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1		0	79	0	G	NM_016359		41625228	1			no_errors	ENST00000559596	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	41625228	G	T	41625228	3	4	13	1	0	0	0	0	1	0	0	0	10817	1232	43	3	75	3	NUSAP1	15	41625228	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2080717	41625228	60906164	509	4055											
RTF1	23168	genome.wustl.edu	37	chr15	41771390	41771390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagatgctccaaaggaaatGagcaaggcaagtgtggtacc	14	6	12	9	0	0	2	0	1	0	1	1	3	1	3	3	3	3	4	3	3	5	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:41771390G>C	ENST00000389629.4	+	16	1920	c.1908G>C	c.(1906-1908)atG>atC	p.M636I		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	636					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAAAGGAAATGAGCAAGGCAA	0.507																																																	0													88	83	84					15																	41771390		2203	4300	6503	SO:0001583	missense	0			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"KIAA0252"	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1908G>C	15.37:g.41771390G>C	ENSP00000374280:p.Met636Ile		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.M636I	ENST00000389629.4	37	c.1908	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210855	0.39102	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.47	5.47	0.80525	.	0.315484	0.41500	D	0.000875	T	0.39064	0.1064	N	0.14661	0.345	0.38543	D	0.949268	B	0.02656	0.0	B	0.01281	0.0	T	0.31833	-0.9929	9	0.37606	T	0.19	-17.0344	10.8226	0.46614	0.1462:0.0:0.8538:0.0	.	636	Q92541	RTF1_HUMAN	I	636	.	ENSP00000374280:M636I	M	+	3	0	RTF1	39558682	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.739000	0.38217	2.574000	0.86865	0.563000	0.77884	ATG	RTF1	-	NULL	ENSG00000137815		0.507	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	-	0	43	0	G	NM_015138		41771390	1	tier1	-	no_errors	ENST00000389629	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C	C	41771390	G	C	41771390	3	2	13	1	0	0	0	0	1	0	0	0	13766	1290	45	5	1970	5	RTF1	15	41771390	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	146162	41771390	60760002	510	4056											
EHD4	30844	genome.wustl.edu	37	chr15	42264525	42264525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggcttgttctcgaagtcGgcgtcctccagcgcaggcga	6	9	14	12	5	1	0	0	0	1	0	5	2	3	0	2	3	1	3	2	3	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:42264525G>A	ENST00000220325.4	-	1	251	c.168C>T	c.(166-168)gcC>gcT	p.A56A	CTD-2382E5.1_ENST00000499478.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	56					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TCTCGAAGTCGGCGTCCTCCA	0.682																																																	0													113	78	90					15																	42264525		2203	4299	6502	SO:0001819	synonymous_variant	0			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"EF-hand domain containing"	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.168C>T	15.37:g.42264525G>A			Q9HAR1|Q9NZN2	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.A56	ENST00000220325.4	37	c.168	CCDS10081.1	15																																																																																			EHD4	-	superfamily_P-loop_NTPase	ENSG00000103966		0.682	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	-	0	109	0	G	NM_139265		42264525	-1	tier1	-	no_errors	ENST00000220325	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.993	A	A	42264525	G	A	42264525	2	1	13	1	0	0	0	0	0	0	0	1	4994	1103	39	1		1	EHD4	15	42264525	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	493135	42264525	60266867	511	4057											
DUOX2	50506	genome.wustl.edu	37	chr15	45396414	45396414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccttgtcagccagagaGaacatggactccacaaacat	14	7	7	13	0	1	2	1	0	0	2	3	4	3	3	4	1	3	0	4	1	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:45396414G>T	ENST00000603300.1	-	19	2686	c.2484C>A	c.(2482-2484)ttC>ttA	p.F828L	DUOX2_ENST00000389039.6_Missense_Mutation_p.F828L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	828	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGCCAGAGAGAACATGGACT	0.612																																																	0													44	41	42					15																	45396414		2198	4292	6490	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2484C>A	15.37:g.45396414G>T	ENSP00000475084:p.Phe828Leu		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.F828L	ENST00000603300.1	37	c.2484	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455920	0.84209	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.23	3.29	0.37713	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77208	-0.2672	9	0.87932	D	0	-19.9745	7.5954	0.28046	0.2716:0.0:0.7284:0.0	.	828;390	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	828	.	ENSP00000373691:F828L	F	-	3	2	DUOX2	43183706	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.342000	0.52159	0.636000	0.30508	0.563000	0.77884	TTC	DUOX2	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000140279		0.612	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding			0	111	0	G	NM_014080		45396414	-1			no_errors	ENST00000389039	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	45396414	G	T	45396414	3	4	13	1	0	0	0	0	1	0	0	0	4815	933	33	3	2226	3	DUOX2	15	45396414	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3131889	45396414	57134978	512	4058											
SLC12A1	6557	genome.wustl.edu	37	chr15	48519305	48519305	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcattggcctaagtGtggtagtaacgacactcaca	12	11	8	10	1	4	0	4	0	0	0	4	1	4	0	1	2	1	2	1	2	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:48519305G>A	ENST00000558405.1	+	4	738				SLC12A1_ENST00000380993.3_Intron|SLC12A1_ENST00000559723.1_Intron|SLC12A1_ENST00000330289.6_Intron|SLC12A1_ENST00000396577.3_Missense_Mutation_p.V220M			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1						cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGCCTAAGTGTGGTAGTAAC	0.438																																																	0													251	207	221					15																	48519305		687	1588	2275	SO:0001627	intron_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.724+537G>A	15.37:g.48519305G>A			A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.V220M	ENST00000558405.1	37	c.658	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040084	0.55003	.	.	ENSG00000074803	ENST00000396577	D	0.98807	-5.15	5.77	5.77	0.91146	.	0.451534	0.25535	N	0.030006	D	0.98283	0.9431	L	0.41236	1.265	0.80722	D	1	.	.	.	.	.	.	D	0.98776	1.0730	8	0.54805	T	0.06	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	M	220	ENSP00000379822:V220M	ENSP00000379822:V220M	V	+	1	0	SLC12A1	46306597	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.263000	0.65507	2.884000	0.98904	0.655000	0.94253	GTG	SLC12A1	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.438	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	101	0	G			48519305	1	tier1	-	no_errors	ENST00000396577	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	48519305	G	A	48519305	1	1	13	0	1	0	0	0	0	0	0	0	14427	1377	48	3		3	SLC12A1	15	48519305	Intron	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3122891	48519305	54012087	513	4059											
SLC27A2	11001	genome.wustl.edu	37	chr15	50519256	50519256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaaaggctcagacagaGaagaaaaaactgagagatgt	19	4	13	5	0	1	5	1	1	0	4	1	8	1	6	0	2	2	2	0	2	5	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:50519256G>T	ENST00000267842.5	+	7	1570	c.1338G>T	c.(1336-1338)gaG>gaT	p.E446D	SLC27A2_ENST00000380902.4_Missense_Mutation_p.E393D|SLC27A2_ENST00000544960.1_Missense_Mutation_p.E211D	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	446					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTCAGACAGAGAAGAAAAAAC	0.383																																																	0													81	81	81					15																	50519256		2196	4295	6491	SO:0001583	missense	0			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1338G>T	15.37:g.50519256G>T	ENSP00000267842:p.Glu446Asp		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E446D	ENST00000267842.5	37	c.1338	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018641	0.75275	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.50548	0.74;0.96;0.96	5.78	3.74	0.42951	AMP-dependent synthetase/ligase (1);	0.049847	0.85682	D	0.000000	T	0.55893	0.1949	L	0.58969	1.84	0.49915	D	0.999838	B;D	0.55172	0.195;0.97	B;P	0.59546	0.346;0.859	T	0.53809	-0.8386	10	0.52906	T	0.07	.	7.1489	0.25599	0.3059:0.0:0.6941:0.0	.	393;446	Q6PF09;O14975	.;S27A2_HUMAN	D	393;446;211	ENSP00000370289:E393D;ENSP00000267842:E446D;ENSP00000444549:E211D	ENSP00000267842:E446D	E	+	3	2	SLC27A2	48306548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.247000	0.43151	0.637000	0.30526	0.655000	0.94253	GAG	SLC27A2	-	pfam_AMP-dep_Synth/Lig	ENSG00000140284		0.383	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2		0	46	0	G	NM_003645		50519256	1			no_errors	ENST00000267842	ensembl	human	known	74_37	missense	6.25	29	2	SNP	1.000	T	T	50519256	G	T	50519256	3	4	13	1	0	0	0	0	1	0	0	0	14571	933	33	3	1364	3	SLC27A2	15	50519256	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1999951	50519256	52012136	514	4060											
FAM81A	145773	genome.wustl.edu	37	chr15	59799504	59799504	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacagcaggctgccaaacTtatcttggaaacgaaaatca	17	7	8	9	1	2	1	1	0	1	1	2	3	2	2	1	2	5	2	1	2	6	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:59799504T>G	ENST00000288228.5	+	5	693	c.506T>G	c.(505-507)cTt>cGt	p.L169R		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	169										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						GCTGCCAAACTTATCTTGGAA	0.453																																																	0													46	43	44					15																	59799504		1852	4091	5943	SO:0001583	missense	0				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.506T>G	15.37:g.59799504T>G	ENSP00000288228:p.Leu169Arg			Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.L169R	ENST00000288228.5	37	c.506	CCDS45269.1	15	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237473	0.58886	.	.	ENSG00000157470	ENST00000288228	T	0.28454	1.61	5.26	4.11	0.48088	.	0.112301	0.38217	N	0.001775	T	0.25606	0.0623	L	0.44542	1.39	0.39594	D	0.969626	P	0.44429	0.835	B	0.40066	0.318	T	0.04400	-1.0954	10	0.52906	T	0.07	-4.692	9.2091	0.37306	0.1615:0.0:0.0:0.8385	.	169	Q8TBF8	FA81A_HUMAN	R	169	ENSP00000288228:L169R	ENSP00000288228:L169R	L	+	2	0	FAM81A	57586796	0.299000	0.24426	0.339000	0.25562	0.991000	0.79684	2.656000	0.46716	0.814000	0.34374	0.524000	0.50904	CTT	FAM81A	-	NULL	ENSG00000157470		0.453	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81A	HGNC	protein_coding	OTTHUMT00000415876.1	-	0	46	0	T	NM_152450		59799504	1	tier1	-	no_errors	ENST00000288228	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.815	G	G	59799504	T	G	59799504	3	3	13	1	0	0	0	0	1	0	0	0	5650	1609	56	4	520	4	FAM81A	15	59799504	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	9280248	59799504	42731888	515	4061											
HERC1	8925	genome.wustl.edu	37	chr15	64005604	64005604	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaggttgctgcaactGtccttcttctcttcgcttct	4	18	8	11	1	3	1	0	1	3	0	6	1	4	1	1	1	3	5	1	1	2	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:64005604G>A	ENST00000443617.2	-	23	4498	c.4411C>T	c.(4411-4413)Cag>Tag	p.Q1471*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1471					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCTGCAACTGTCCTTCTTCT	0.478																																																	0													87	87	87					15																	64005604		2037	4174	6211	SO:0001587	stop_gained	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4411C>T	15.37:g.64005604G>A	ENSP00000390158:p.Gln1471*		Q8IW65	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.Q1471*	ENST00000443617.2	37	c.4411	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.793041	0.99266	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	.	.	.	5.23	5.23	0.72850	.	0.245400	0.34411	N	0.003995	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.1604	0.93529	0.0:0.0:1.0:0.0	.	.	.	.	X	1471;455	.	ENSP00000389613:Q455X	Q	-	1	0	HERC1	61792657	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.278000	0.95766	2.599000	0.87857	0.655000	0.94253	CAG	HERC1	-	NULL	ENSG00000103657		0.478	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	44	0	G	NM_003922		64005604	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	nonsense	18.18	26	6	SNP	1.000	A	A	64005604	G	A	64005604	4	1	13	1	0	0	0	0	0	1	0	0	7084	1386	48	3	10398	3	HERC1	15	64005604	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4206100	64005604	38525788	516	4062											
FEM1B	10116	genome.wustl.edu	37	chr15	68582040	68582040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccatggagccaacgtgaAccataccacagtaactaatt	15	7	7	12	1	0	1	0	1	0	0	0	2	0	2	4	1	6	1	4	1	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:68582040A>G	ENST00000306917.4	+	2	959	c.344A>G	c.(343-345)aAc>aGc	p.N115S		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	115					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GCCAACGTGAACCATACCACA	0.463																																																	0													92	77	82					15																	68582040		2200	4298	6498	SO:0001583	missense	0				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"Ankyrin repeat domain containing"	3649	protein-coding gene	gene with protein product		613539	"FEM-1 (C. elegans) homolog b"			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.344A>G	15.37:g.68582040A>G	ENSP00000307298:p.Asn115Ser		O43146	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N115S	ENST00000306917.4	37	c.344	CCDS10228.1	15	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621512	0.66787	.	.	ENSG00000169018	ENST00000306917	T	0.59772	0.24	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75117	0.3806	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78201	-0.2296	10	0.87932	D	0	-6.0222	15.0888	0.72177	1.0:0.0:0.0:0.0	.	115	Q9UK73	FEM1B_HUMAN	S	115	ENSP00000307298:N115S	ENSP00000307298:N115S	N	+	2	0	FEM1B	66369094	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.309000	0.96252	2.149000	0.67028	0.454000	0.30748	AAC	FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000169018		0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	-	0	51	0	A			68582040	1	tier1	-	no_errors	ENST00000306917	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	G	G	68582040	A	G	68582040	3	3	13	1	0	0	0	0	1	0	0	0	5832	43	2	4	350	4	FEM1B	15	68582040	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	4576436	68582040	33949352	517	4063											
PAQR5	54852	genome.wustl.edu	37	chr15	69692375	69692375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtaccaccagaagcacatGatcatgaccctcctggcctc	10	8	7	16	1	1	3	1	2	0	1	4	3	2	3	5	1	2	2	5	1	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:69692375G>A	ENST00000340965.3	+	8	1340	c.672G>A	c.(670-672)atG>atA	p.M224I	PAQR5_ENST00000561153.1_Missense_Mutation_p.M224I|PAQR5_ENST00000395407.2_Missense_Mutation_p.M224I|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	224					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						AGAAGCACATGATCATGACCC	0.532																																																	0													255	203	220					15																	69692375		2199	4298	6497	SO:0001583	missense	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.672G>A	15.37:g.69692375G>A	ENSP00000343877:p.Met224Ile		Q8IXU2	Missense_Mutation	SNP	pfam_HlyIII-related	p.M224I	ENST00000340965.3	37	c.672	CCDS10232.1	15	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463450	0.26248	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.28255	1.62;1.62	5.42	2.49	0.30216	.	0.534882	0.22677	N	0.056985	T	0.11281	0.0275	N	0.05124	-0.11	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.34254	-0.9836	10	0.05721	T	0.95	-21.6745	7.9969	0.30273	0.2636:0.0:0.7364:0.0	.	224	Q9NXK6	MPRG_HUMAN	I	224	ENSP00000378803:M224I;ENSP00000343877:M224I	ENSP00000343877:M224I	M	+	3	0	PAQR5	67479429	0.002000	0.14202	0.944000	0.38274	0.992000	0.81027	-0.001000	0.12947	0.667000	0.31107	0.561000	0.74099	ATG	PAQR5	-	pfam_HlyIII-related	ENSG00000137819		0.532	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	-	0	42	0	G	NM_017705		69692375	1	tier1	-	no_errors	ENST00000340965	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.201	A	A	69692375	G	A	69692375	3	1	13	1	0	0	0	0	1	0	0	0	11477	1290	45	3	694	3	PAQR5	15	69692375	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1110335	69692375	32839017	518	4064											
THSD4	79875	genome.wustl.edu	37	chr15	72040778	72040778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctcggtgccctgcggcGtgggacagaggacccgtgat	6	7	17	11	4	0	2	0	1	0	1	1	4	0	4	2	4	3	1	2	4	0	0	rs374123828		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:72040778G>A	ENST00000355327.3	+	14	2394	c.2260G>A	c.(2260-2262)Gtg>Atg	p.V754M	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.V754M|THSD4_ENST00000357769.4_Missense_Mutation_p.V394M			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	754	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCCCTGCGGCGTGGGACAGAG	0.557																																																	0								G	MET/VAL	0,4352		0,0,2176	129	144	139		2260	4.7	1	15		139	1,8535		0,1,4267	no	missense	THSD4	NM_024817.2	21	0,1,6443	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	754/1019	72040778	1,12887	2176	4268	6444	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2260G>A	15.37:g.72040778G>A	ENSP00000347484:p.Val754Met		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.V754M	ENST00000355327.3	37	c.2260	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106473	0.37145	0.0	1.17E-4	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.51574	0.7;0.7;0.7	4.68	4.68	0.58851	.	.	.	.	.	T	0.61413	0.2345	L	0.47190	1.495	0.41672	D	0.989249	D;D	0.89917	1.0;1.0	D;D	0.75484	0.978;0.986	T	0.62139	-0.6917	9	0.46703	T	0.11	.	15.4257	0.75048	0.0:0.0:1.0:0.0	.	394;754	B4DR13;Q6ZMP0	.;THSD4_HUMAN	M	754;754;394	ENSP00000347484:V754M;ENSP00000261862:V754M;ENSP00000350413:V394M	ENSP00000261862:V754M	V	+	1	0	THSD4	69827832	1.000000	0.71417	0.977000	0.42913	0.588000	0.36517	3.327000	0.52045	2.313000	0.78055	0.563000	0.77884	GTG	THSD4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.557	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0	108	0	G	NM_024817		72040778	1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	9.52	76	8	SNP	0.824	A	A	72040778	G	A	72040778	3	1	13	1	0	0	0	0	1	0	0	0	15925	1145	40	1	2310	1	THSD4	15	72040778	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2348403	72040778	30490614	519	4065											
NEO1	4756	genome.wustl.edu	37	chr15	73566202	73566202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcagagatacatgactggGttattgagcctgttgtggga	10	12	14	5	0	0	3	0	2	0	1	0	5	0	4	1	2	3	3	1	2	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:73566202G>A	ENST00000339362.5	+	21	3463	c.3016G>A	c.(3016-3018)Gtt>Att	p.V1006I	NEO1_ENST00000261908.6_Missense_Mutation_p.V1006I|NEO1_ENST00000558964.1_Missense_Mutation_p.V1006I|NEO1_ENST00000560262.1_Missense_Mutation_p.V1006I			Q92859	NEO1_HUMAN	neogenin 1	1006	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACATGACTGGGTTATTGAGCC	0.408																																																	0													146	134	138					15																	73566202		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3016G>A	15.37:g.73566202G>A	ENSP00000341198:p.Val1006Ile		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1006I	ENST00000339362.5	37	c.3016	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909852	0.72983	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.57436	0.4;0.4	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	L	0.38953	1.18	0.80722	D	1	D;B;B;P	0.62365	0.991;0.026;0.059;0.605	D;B;B;B	0.75020	0.985;0.053;0.053;0.377	T	0.57745	-0.7758	10	0.30078	T	0.28	-19.3741	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1006;1006;728;1006	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	I	1006;728;1006	ENSP00000341198:V1006I;ENSP00000261908:V1006I	ENSP00000261908:V1006I	V	+	1	0	NEO1	71353255	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GTT	NEO1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000067141		0.408	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0	45	0	G	NM_002499		73566202	1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A	A	73566202	G	A	73566202	3	1	13	1	0	0	0	0	1	0	0	0	10375	1261	44	3	3094	3	NEO1	15	73566202	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1525424	73566202	28965190	520	4066											
NEO1	4756	genome.wustl.edu	37	chr15	73580673	73580673	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacgagctgcctgcaaaTcagtgaatggctctcataag	13	8	11	9	1	2	1	2	1	1	0	3	3	2	2	1	2	4	3	1	2	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:73580673T>A	ENST00000339362.5	+	25	3877	c.3430T>A	c.(3430-3432)Tca>Aca	p.S1144T	NEO1_ENST00000261908.6_Missense_Mutation_p.S1144T|NEO1_ENST00000558964.1_Missense_Mutation_p.S1133T|NEO1_ENST00000560262.1_Missense_Mutation_p.S1144T			Q92859	NEO1_HUMAN	neogenin 1	1144					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGCCTGCAAATCAGTGAATGG	0.408																																																	0													106	111	109					15																	73580673		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3430T>A	15.37:g.73580673T>A	ENSP00000341198:p.Ser1144Thr		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1144T	ENST00000339362.5	37	c.3430	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	T	21.5	4.153003	0.78001	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.58060	0.36;0.36	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.38175	1.15	0.80722	D	1	D;B;D;D	0.67145	0.996;0.264;0.992;0.986	P;B;P;P	0.60286	0.872;0.258;0.82;0.82	T	0.56288	-0.8004	10	0.31617	T	0.26	-15.9309	15.6369	0.76961	0.0:0.0:0.0:1.0	.	1144;1133;855;1144	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	1144;855;1144	ENSP00000341198:S1144T;ENSP00000261908:S1144T	ENSP00000261908:S1144T	S	+	1	0	NEO1	71367726	1.000000	0.71417	0.933000	0.37362	0.767000	0.43475	7.698000	0.84413	2.097000	0.63578	0.459000	0.35465	TCA	NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.408	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	-	0	94	0	T	NM_002499		73580673	1	tier1	-	no_errors	ENST00000261908	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	A	A	73580673	T	A	73580673	3	1	13	1	0	0	0	0	1	0	0	0	10375	1435	50	5	3524	5	NEO1	15	73580673	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	14471	73580673	28950719	521	4067											
ISLR	3671	genome.wustl.edu	37	chr15	74467812	74467812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccgtgtccatcccggagCaggacaacatcgcctgcacc	8	5	11	17	4	0	0	0	0	0	0	3	2	2	2	5	3	3	2	5	3	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:74467812C>A	ENST00000249842.3	+	2	970	c.613C>A	c.(613-615)Cag>Aag	p.Q205K	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.Q205K	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	205	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CATCCCGGAGCAGGACAACAT	0.652																																																	0													61	52	55					15																	74467812		2198	4297	6495	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.613C>A	15.37:g.74467812C>A	ENSP00000249842:p.Gln205Lys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q205K	ENST00000249842.3	37	c.613	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	C	0.647	-0.811131	0.02798	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.51325	0.71;0.71	4.05	4.05	0.47172	Cysteine-rich flanking region, C-terminal (1);	0.672445	0.12495	U	0.463917	T	0.25494	0.0620	N	0.16790	0.44	0.09310	N	1	B	0.22683	0.073	B	0.17433	0.018	T	0.25433	-1.0132	10	0.06099	T	0.92	.	7.0654	0.25149	0.2962:0.5307:0.1731:0.0	.	205	O14498	ISLR_HUMAN	K	205	ENSP00000249842:Q205K;ENSP00000378550:Q205K	ENSP00000249842:Q205K	Q	+	1	0	ISLR	72254865	0.755000	0.28372	0.999000	0.59377	0.668000	0.39293	0.572000	0.23684	1.822000	0.53115	0.313000	0.20887	CAG	ISLR	-	smart_Cys-rich_flank_reg_C	ENSG00000129009		0.652	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	-	0	46	0	C	NM_005545		74467812	1	tier1	-	no_errors	ENST00000249842	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.052	A	A	74467812	C	A	74467812	3	1	13	1	0	0	0	0	1	0	0	0	7885	711	25	3	615	3	ISLR	15	74467812	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	887139	74467812	28063580	522	4068											
PSTPIP1	9051	genome.wustl.edu	37	chr15	77310810	77310810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcagggcccaggcggaGgagcggtacgggaaggagct	8	6	19	8	3	0	0	0	0	0	0	0	4	0	4	1	7	4	3	1	7	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:77310810G>T	ENST00000558012.1	+	3	639	c.150G>T	c.(148-150)gaG>gaT	p.E50D	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.E50D|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.E49D|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.E50D	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	50	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCCAGGCGGAGGAGCGGTACG	0.577																																																	0													29	35	33					15																	77310810		1987	4137	6124	SO:0001583	missense	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.150G>T	15.37:g.77310810G>T	ENSP00000452746:p.Glu50Asp		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.E115D	ENST00000558012.1	37	c.345	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297041	0.40594	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.58797	0.31;0.31	3.81	1.9	0.25705	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.87827	2.91	0.46416	D	0.999033	B;P;P;P	0.45827	0.159;0.832;0.543;0.867	B;P;B;P	0.55615	0.185;0.546;0.193;0.78	T	0.71189	-0.4666	10	0.72032	D	0.01	-19.4021	6.7258	0.23355	0.3164:0.0:0.6836:0.0	.	50;49;50;50	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	D	50;49	ENSP00000368914:E50D;ENSP00000267939:E49D	ENSP00000267939:E49D	E	+	3	2	PSTPIP1	75097865	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	1.510000	0.35790	0.952000	0.37798	0.591000	0.81541	GAG	PSTPIP1	-	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	ENSG00000140368		0.577	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	-	0	36	0	G	NM_003978		77310810	1	tier1	-	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	77310810	G	T	77310810	3	4	13	1	0	0	0	0	1	0	0	0	12763	991	35	3	160	3	PSTPIP1	15	77310810	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2842998	77310810	25220582	523	4069											
TBC1D2B	23102	genome.wustl.edu	37	chr15	78317636	78317636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctttctttaactgttccaGctcttcctgctggctctgga	4	17	8	12	0	4	0	0	0	4	0	6	1	6	1	2	2	3	4	2	2	1	5	rs370550166		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:78317636G>A	ENST00000300584.3	-	5	1050	c.1051C>T	c.(1051-1053)Ctg>Ttg	p.L351L	TBC1D2B_ENST00000409931.3_Silent_p.L351L	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	351							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AACTGTTCCAGCTCTTCCTGC	0.547																																																	0													111	97	102					15																	78317636		2196	4293	6489	SO:0001819	synonymous_variant	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1051C>T	15.37:g.78317636G>A			A7MD42|Q8N1F9|Q9NXM0	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L351	ENST00000300584.3	37	c.1051	CCDS45314.1	15																																																																																			TBC1D2B	-	NULL	ENSG00000167202		0.547	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	-	0	79	0	G	NM_015079		78317636	-1	tier1	-	no_errors	ENST00000300584	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	A	A	78317636	G	A	78317636	2	1	13	1	0	0	0	0	0	0	0	1	15666	962	34	3		3	TBC1D2B	15	78317636	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1006826	78317636	24213756	524	4070											
CTSH	1512	genome.wustl.edu	37	chr15	79221834	79221834	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaagcctggctggggagacCcctgcaagaagtacacacag	13	4	13	11	0	0	2	0	0	0	2	0	4	0	2	3	3	3	3	3	3	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:79221834C>A	ENST00000220166.5	-	8	659	c.550G>T	c.(550-552)Ggt>Tgt	p.G184C	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						CTGGGGAGACCCCTGCAAGAA	0.607																																																	0													98	80	86					15																	79221834		2196	4293	6489	SO:0001630	splice_region_variant	0			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.549-1G>T	15.37:g.79221834C>A			B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G184C	ENST00000220166.5	37	c.550	CCDS10308.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327902	0.81690	.	.	ENSG00000103811	ENST00000220166;ENST00000394758;ENST00000528741	D;D	0.94330	-3.4;-3.4	4.96	4.96	0.65561	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	H	0.99117	4.435	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99044	1.0825	10	0.87932	D	0	.	13.7026	0.62618	0.0:1.0:0.0:0.0	.	184;172	P09668;E9PBP2	CATH_HUMAN;.	C	184;172;108	ENSP00000220166:G184C;ENSP00000435329:G108C	ENSP00000220166:G184C	G	-	1	0	CTSH	77008889	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	6.320000	0.72876	2.303000	0.77524	0.471000	0.43371	GGT	CTSH	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000103811		0.607	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	-	0	110	0	C	NM_004390	Missense_Mutation	79221834	-1	tier1	-	no_errors	ENST00000220166	ensembl	human	known	74_37	missense	21.82	42	12	SNP	1.000	A	A	79221834	C	A	79221834	5	1	13	1	0	0	0	0	0	0	1	0	4045	637	22	3	477	3	CTSH	15	79221834	Splice_Site	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	904198	79221834	23309558	525	4071											
RASGRF1	5923	genome.wustl.edu	37	chr15	79350703	79350703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagccgctcgatctcgatCtccccatcctcgatctgctg	5	12	7	17	4	4	0	1	0	3	0	9	3	5	0	4	0	2	2	4	0	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:79350703C>G	ENST00000419573.3	-	3	778	c.504G>C	c.(502-504)gaG>gaC	p.E168D	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E168D|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	168					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGATCTCGATCTCCCCATCCT	0.602																																																	0													107	90	96					15																	79350703		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.504G>C	15.37:g.79350703C>G	ENSP00000405963:p.Glu168Asp		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E168D	ENST00000419573.3	37	c.504	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	3.728	-0.056151	0.07362	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.39997	1.05	4.59	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.34521	1.04	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.10450	0.002;0.002;0.002;0.005	T	0.06267	-1.0836	10	0.10902	T	0.67	.	12.2456	0.54568	0.0:0.827:0.173:0.0	.	168;168;168;168	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	D	168	ENSP00000405963:E168D	ENSP00000378224:E168D	E	-	3	2	RASGRF1	77137758	0.998000	0.40836	0.968000	0.41197	0.930000	0.56654	0.499000	0.22546	1.100000	0.41517	0.542000	0.68232	GAG	RASGRF1	-	NULL	ENSG00000058335		0.602	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	57	0	C	NM_002891		79350703	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	G	G	79350703	C	G	79350703	3	3	13	1	0	0	0	0	1	0	0	0	13117	912	32	5	3421	5	RASGRF1	15	79350703	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	128869	79350703	23180689	526	4072											
HDGFRP3	50810	genome.wustl.edu	37	chr15	83826671	83826671	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacctggtagccagtaaacTttactcctgggttattttct	8	17	7	9	0	1	0	0	0	1	0	2	0	2	0	3	2	4	3	3	2	6	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:83826671T>G	ENST00000299633.4	-	3	887	c.284A>C	c.(283-285)aAg>aCg	p.K95T		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		95					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GCCAGTAAACTTTACTCCTGG	0.343																																																	0													140	130	134					15																	83826671		2203	4300	6503	SO:0001583	missense	0																														ENST00000299633.4:c.284A>C	15.37:g.83826671T>G	ENSP00000299633:p.Lys95Thr			Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.K95T	ENST00000299633.4	37	c.284	CCDS32314.1	15	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919716	0.73098	.	.	ENSG00000166503	ENST00000299633	T	0.72725	-0.68	5.28	5.28	0.74379	.	0.048875	0.85682	D	0.000000	T	0.78935	0.4362	L	0.49640	1.575	0.43574	D	0.9959	P	0.43392	0.805	P	0.60609	0.877	T	0.76484	-0.2942	10	0.33141	T	0.24	.	15.5016	0.75703	0.0:0.0:0.0:1.0	.	95	Q9Y3E1	HDGR3_HUMAN	T	95	ENSP00000299633:K95T	ENSP00000299633:K95T	K	-	2	0	AC024270.1	81617675	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.137000	0.71710	2.124000	0.65301	0.460000	0.39030	AAG	HDGFRP3	-	NULL	ENSG00000166503		0.343	HDGFRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFRP3	Uniprot_gn	protein_coding	OTTHUMT00000419898.1	-	0	42	0	T			83826671	-1	tier1	-	no_errors	ENST00000299633	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	G	G	83826671	T	G	83826671	3	3	13	1	0	0	0	0	1	0	0	0	7048	1609	56	4	343	4	HDGFRP3	15	83826671	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4475968	83826671	18704721	527	4073											
ALPK3	57538	genome.wustl.edu	37	chr15	85400659	85400659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgggagcacagccacctTcctgccctctgaggatcagg	8	6	12	15	1	2	1	1	1	1	0	3	3	3	3	4	3	3	2	4	3	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:85400659T>C	ENST00000258888.5	+	6	3463	c.3296T>C	c.(3295-3297)tTc>tCc	p.F1099S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1099					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGCCACCTTCCTGCCCTCT	0.627																																																	0													52	43	46					15																	85400659		2203	4299	6502	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3296T>C	15.37:g.85400659T>C	ENSP00000258888:p.Phe1099Ser		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.F1099S	ENST00000258888.5	37	c.3296	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	T	11.39	1.624714	0.28889	.	.	ENSG00000136383	ENST00000258888	T	0.61510	0.1	4.18	-3.04	0.05412	.	1.536580	0.03721	N	0.251862	T	0.40347	0.1113	L	0.32530	0.975	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.08186	-1.0734	10	0.23302	T	0.38	0.128	2.9995	0.06009	0.3448:0.3375:0.0:0.3176	.	1099	Q96L96	ALPK3_HUMAN	S	1099	ENSP00000258888:F1099S	ENSP00000258888:F1099S	F	+	2	0	ALPK3	83201663	0.000000	0.05858	0.000000	0.03702	0.716000	0.41182	-0.125000	0.10579	-0.393000	0.07739	0.460000	0.39030	TTC	ALPK3	-	NULL	ENSG00000136383		0.627	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	47	0	T	NM_020778		85400659	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.000	C	C	85400659	T	C	85400659	3	2	13	1	0	0	0	0	1	0	0	0	546	1783	62	4	3318	4	ALPK3	15	85400659	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1573988	85400659	17130733	528	4074											
AEN	64782	genome.wustl.edu	37	chr15	89169590	89169590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccttgctgcaggagcaGgggctgctgagcatgcctcc	7	7	15	12	0	0	1	0	1	0	0	1	2	1	2	3	4	6	6	3	4	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr15:89169590G>T	ENST00000332810.3	+	2	301	c.150G>T	c.(148-150)caG>caT	p.Q50H	AEN_ENST00000379231.3_Missense_Mutation_p.Q50H	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	50					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TGCAGGAGCAGGGGCTGCTGA	0.622																																																	0													31	26	28					15																	89169590		2200	4299	6499	SO:0001583	missense	0			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"interferon stimulated exonuclease gene 20kDa-like 1"	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.150G>T	15.37:g.89169590G>T	ENSP00000331944:p.Gln50His		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.Q50H	ENST00000332810.3	37	c.150	CCDS10344.1	15	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415106	0.62511	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.18960	2.19;2.18	5.02	1.58	0.23477	.	1.515010	0.03918	N	0.283039	T	0.19805	0.0476	L	0.32530	0.975	0.28705	N	0.903846	P;P	0.44877	0.835;0.845	B;B	0.43225	0.412;0.303	T	0.20405	-1.0276	10	0.51188	T	0.08	-21.8246	5.8453	0.18663	0.2457:0.0:0.6102:0.1441	.	50;50	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	H	50	ENSP00000331944:Q50H;ENSP00000368533:Q50H	ENSP00000331944:Q50H	Q	+	3	2	AEN	86970594	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	1.318000	0.33643	0.511000	0.28236	0.563000	0.77884	CAG	AEN	-	NULL	ENSG00000181026		0.622	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	HGNC	protein_coding	OTTHUMT00000309071.1		0	108	0	G	NM_022767		89169590	1			no_errors	ENST00000379231	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.992	T	T	89169590	G	T	89169590	3	4	13	1	0	0	0	0	1	0	0	0	351	991	35	3	152	3	AEN	15	89169590	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3768931	89169590	13361802	529	4075											
SRRM2	23524	genome.wustl.edu	37	chr16	2817411	2817411	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactcccacagccccagcTgtgaacctagcaggggccag	9	4	11	17	1	0	1	0	1	0	0	1	1	1	1	5	2	4	3	5	2	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:2817411T>G	ENST00000301740.8	+	11	7431	c.6882T>G	c.(6880-6882)gcT>gcG	p.A2294A	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2294	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGCCCCAGCTGTGAACCTAG	0.637																																																	0													121	130	127					16																	2817411		2198	4300	6498	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6882T>G	16.37:g.2817411T>G			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.A2294	ENST00000301740.8	37	c.6882	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	50	0	T			2817411	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.996	G	G	2817411	T	G	2817411	2	3	13	1	0	0	0	0	0	0	0	1	15216	1567	55	4		4	SRRM2	16	2817411	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09		2817411	87537342	530	4076											
CORO7	79585	genome.wustl.edu	37	chr16	4412009	4412009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacagccacctgtccccCgctgctgagcagcggcacgg	8	4	12	17	3	0	1	0	1	0	0	1	1	1	1	4	2	5	5	4	2	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:4412009C>T	ENST00000251166.4	-	16	1700	c.1555G>A	c.(1555-1557)Ggg>Agg	p.G519R	CORO7_ENST00000539968.1_Missense_Mutation_p.G299R|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7_ENST00000537233.2_Missense_Mutation_p.G501R|CORO7_ENST00000423908.2_Missense_Mutation_p.G351R|CORO7_ENST00000574025.1_Missense_Mutation_p.G434R|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G519R	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	519					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACCTGTCCCCCGCTGCTGAGC	0.652																																																	0													46	36	39					16																	4412009		2195	4293	6488	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1555G>A	16.37:g.4412009C>T	ENSP00000251166:p.Gly519Arg		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G519R	ENST00000251166.4	37	c.1555	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018298	0.75275	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.76448	-1.02;-1.02;-1.02	5.26	5.26	0.73747	.	0.056400	0.64402	D	0.000001	D	0.90521	0.7030	M	0.90705	3.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999;1.0	D	0.92395	0.5924	10	0.87932	D	0	-24.2008	18.4566	0.90722	0.0:1.0:0.0:0.0	.	434;501;299;299;519;500	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	R	519;434;299;351	ENSP00000251166:G519R;ENSP00000446221:G299R;ENSP00000391530:G351R	ENSP00000251166:G519R	G	-	1	0	CORO7	4352010	1.000000	0.71417	0.793000	0.32043	0.115000	0.19883	7.587000	0.82613	2.454000	0.82982	0.561000	0.74099	GGG	CORO7-PAM16	-	NULL	ENSG00000103426		0.652	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0	49	0	C	NM_024535		4412009	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	T	T	4412009	C	T	4412009	3	4	13	1	0	0	0	0	1	0	0	0	3766	652	23	1	1274	1	CORO7	16	4412009	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1594598	4412009	85942744	531	4077											
ABCC1	4363	genome.wustl.edu	37	chr16	16103632	16103632	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgtgcttctcttccaGgccttgggatttttgctgtg	4	18	11	8	0	1	0	0	0	1	0	3	1	2	1	2	2	2	3	2	2	1	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:16103632G>T	ENST00000399410.3	+	3	400		c.e3-1		ABCC1_ENST00000346370.5_Splice_Site|ABCC1_ENST00000345148.5_Splice_Site|ABCC1_ENST00000349029.5_Splice_Site|ABCC1_ENST00000351154.5_Splice_Site|ABCC1_ENST00000399408.2_Splice_Site	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1						arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TTCTCTTCCAGGCCTTGGGAT	0.562																																																	0													190	190	190					16																	16103632		1929	4123	6052	SO:0001630	splice_region_variant	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.226-1G>T	16.37:g.16103632G>T			A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Splice_Site	SNP	-	e3-1	ENST00000399410.3	37	c.226-1	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716137	0.68844	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6816	0.88245	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC1	16011133	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.399000	0.97285	2.424000	0.82194	0.643000	0.83706	.	ABCC1	-	-	ENSG00000103222		0.562	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	-	0	79	0	G	NM_004996	Intron	16103632	1	tier1	-	no_errors	ENST00000399408	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	T	T	16103632	G	T	16103632	5	4	13	1	0	0	0	0	0	0	1	0	49	1014	35	3	235	3	ABCC1	16	16103632	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	11691623	16103632	74251121	532	4078											
NOMO2	283820	genome.wustl.edu	37	chr16	18549921	18549921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtttcaaagtagaggtGctctttctgagcatggatgg	9	12	13	7	1	3	2	1	1	2	1	3	4	3	3	1	3	2	4	1	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:18549921G>T	ENST00000381474.3	-	11	1212	c.1147C>A	c.(1147-1149)Cac>Aac	p.H383N	NOMO2_ENST00000330537.6_Missense_Mutation_p.H383N|NOMO2_ENST00000543392.1_Missense_Mutation_p.H216N	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	383						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						AAGTAGAGGTGCTCTTTCTGA	0.443																																																	0													75	54	60					16																	18549921		1581	3254	4835	SO:0001583	missense	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1147C>A	16.37:g.18549921G>T	ENSP00000370883:p.His383Asn		Q4G177	Missense_Mutation	SNP	pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom	p.H383N	ENST00000381474.3	37	c.1147	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	10.67	1.414107	0.25465	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.39787	1.06;1.06;1.06	2.57	2.57	0.30868	Carbohydrate-binding-like fold (1);Domain of unknown function DUF2012 (1);Carboxypeptidase, regulatory domain (1);	0.134559	0.50627	D	0.000115	T	0.36248	0.0960	L	0.43152	1.355	0.47511	D	0.999443	B;B	0.28470	0.101;0.213	B;B	0.35182	0.062;0.197	T	0.15752	-1.0426	10	0.22706	T	0.39	-14.1739	12.4834	0.55856	0.0:0.0:1.0:0.0	.	216;383	Q4G177;Q5JPE7	.;NOMO2_HUMAN	N	383;383;216	ENSP00000331851:H383N;ENSP00000370883:H383N;ENSP00000439970:H216N	ENSP00000331851:H383N	H	-	1	0	NOMO2	18457422	1.000000	0.71417	0.977000	0.42913	0.786000	0.44442	9.198000	0.94994	1.416000	0.47057	0.400000	0.26472	CAC	NOMO2	-	pfam_DUF2012,superfamily_Carb-bd-like_fold	ENSG00000185164		0.443	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	HGNC	protein_coding	OTTHUMT00000435858.1		0	162	0	G	NM_001004060		18549921	-1			no_errors	ENST00000381474	ensembl	human	known	74_37	missense	8.00	91	8	SNP	1.000	T	T	18549921	G	T	18549921	3	4	13	1	0	0	0	0	1	0	0	0	10571	1319	46	3	2748	3	NOMO2	16	18549921	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2446289	18549921	71804832	533	4079											
UMOD	7369	genome.wustl.edu	37	chr16	20360192	20360192	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactcacagtgccatccaTccccccggtagcccgcgggg	7	5	11	18	3	1	0	1	0	0	0	3	0	3	0	6	3	3	2	6	3	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:20360192T>C	ENST00000570689.1	-	3	577	c.431A>G	c.(430-432)gAt>gGt	p.D144G	UMOD_ENST00000396138.4_Missense_Mutation_p.D193G|UMOD_ENST00000396142.2_Missense_Mutation_p.D144G|UMOD_ENST00000396134.2_Missense_Mutation_p.D177G|UMOD_ENST00000302509.4_Missense_Mutation_p.D144G|UMOD_ENST00000424589.1_Missense_Mutation_p.D177G			P07911	UROM_HUMAN	uromodulin	144	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGCCATCCATCCCCCCGGTA	0.701																																																	0													11	12	12					16																	20360192		2147	4190	6337	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.431A>G	16.37:g.20360192T>C	ENSP00000460548:p.Asp144Gly		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.D177G	ENST00000570689.1	37	c.530	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	t	19.01	3.743208	0.69418	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000396142	D;D;D;D	0.99239	-5.61;-5.61;-2.33;-2.33	5.45	4.36	0.52297	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.229903	0.30410	N	0.009697	D	0.97882	0.9304	N	0.25332	0.735	0.35680	D	0.814004	P;P	0.52692	0.955;0.72	P;B	0.52424	0.698;0.434	D	0.98977	1.0803	10	0.51188	T	0.08	-19.4721	9.2974	0.37824	0.0:0.0855:0.0:0.9145	.	177;144	E9PEA4;P07911	.;UROM_HUMAN	G	144;177;177;144;144	ENSP00000379438:D177G;ENSP00000416346:D177G;ENSP00000306279:D144G;ENSP00000379446:D144G	ENSP00000306279:D144G	D	-	2	0	UMOD	20267693	0.882000	0.30256	0.211000	0.23655	0.582000	0.36321	2.470000	0.45119	0.904000	0.36572	0.454000	0.30748	GAT	UMOD	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000169344		0.701	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0	76	0	T			20360192	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.996	C	C	20360192	T	C	20360192	3	2	13	1	0	0	0	0	1	0	0	0	17028	1435	50	4	1527	4	UMOD	16	20360192	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1810271	20360192	69994561	534	4080											
ACSM2B	348158	genome.wustl.edu	37	chr16	20566633	20566633	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccatcgcagcttttcTcagacaccagtagcttaatt	10	11	6	14	1	1	1	1	0	1	1	3	1	1	1	3	0	2	4	3	0	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:20566633T>G	ENST00000329697.6	-	4	722	c.554A>C	c.(553-555)gAg>gCg	p.E185A	ACSM2B_ENST00000414188.2_Missense_Mutation_p.E185A|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E106A|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E185A|ACSM2B_ENST00000565232.1_Missense_Mutation_p.E185A	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	185					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCAGCTTTTCTCAGACACCAG	0.443																																																	0													247	233	238					16																	20566633		2201	4300	6501	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.554A>C	16.37:g.20566633T>G	ENSP00000327453:p.Glu185Ala		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E185A	ENST00000329697.6	37	c.554	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	T	4.272	0.049626	0.08243	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.48836	1.08;0.8	3.11	1.96	0.26148	AMP-dependent synthetase/ligase (1);	0.153716	0.29924	N	0.010844	T	0.31734	0.0806	L	0.33137	0.985	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.01	T	0.16867	-1.0388	10	0.23891	T	0.37	-11.6364	8.0979	0.30840	0.0:0.0:0.4021:0.5979	.	185;185	A8K051;Q68CK6	.;ACS2B_HUMAN	A	185	ENSP00000327453:E185A;ENSP00000390378:E185A	ENSP00000327453:E185A	E	-	2	0	ACSM2B	20474134	0.003000	0.15002	0.727000	0.30756	0.201000	0.24016	1.277000	0.33167	0.369000	0.24510	0.496000	0.49642	GAG	ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.443	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0	119	0	T	NM_182617		20566633	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	24.21	72	23	SNP	0.141	G	G	20566633	T	G	20566633	3	3	13	1	0	0	0	0	1	0	0	0	184	1551	54	4	1223	4	ACSM2B	16	20566633	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	206441	20566633	69788120	535	4081											
CHP2	63928	genome.wustl.edu	37	chr16	23768870	23768870	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccttagagaagatggacgTtgagcaaaaaatgagcatcc	15	8	11	7	1	0	4	0	2	0	2	2	6	2	5	2	1	2	3	2	1	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:23768870T>G	ENST00000300113.2	+	7	980	c.557T>G	c.(556-558)gTt>gGt	p.V186G		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AAGATGGACGTTGAGCAAAAA	0.522																																																	0													203	183	190					16																	23768870		2197	4300	6497	SO:0001583	missense	0				CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"EF-hand domain containing"	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.557T>G	16.37:g.23768870T>G	ENSP00000300113:p.Val186Gly		A8K2I8	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V186G	ENST00000300113.2	37	c.557	CCDS10617.1	16	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036074	0.54896	.	.	ENSG00000166869	ENST00000300113	T	0.30448	1.53	4.57	4.57	0.56435	.	0.259165	0.31472	N	0.007595	T	0.57359	0.2048	M	0.90922	3.16	0.58432	D	0.999999	D	0.53885	0.963	P	0.58077	0.832	T	0.67833	-0.5568	10	0.87932	D	0	-12.9261	12.199	0.54313	0.0:0.0:0.0:1.0	.	186	O43745	CHP2_HUMAN	G	186	ENSP00000300113:V186G	ENSP00000300113:V186G	V	+	2	0	AC130454.2	23676371	0.996000	0.38824	0.924000	0.36721	0.722000	0.41435	6.784000	0.75084	2.050000	0.60909	0.533000	0.62120	GTT	CHP2	-	pfscan_EF_hand_dom	ENSG00000166869		0.522	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHP2	HGNC	protein_coding	OTTHUMT00000254498.1	-	0	106	0	T	NM_022097		23768870	1	tier1	-	no_errors	ENST00000300113	ensembl	human	known	74_37	missense	22.45	76	22	SNP	0.986	G	G	23768870	T	G	23768870	3	3	13	1	0	0	0	0	1	0	0	0	3374	1725	60	4	583	4	CHP2	16	23768870	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3202237	23768870	66585883	536	4082											
ZNF747	65988	genome.wustl.edu	37	chr16	30545589	30545590	+	Nonsense_Mutation	DNP	TC	TC	AA																															gatcccacagttcggccttcTcctccacccaggagatgagc																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:30545589_30545590TC>AA	ENST00000252799.3	-	1	1078_1079	c.411_412GA>TT	c.(409-414)agGAga>agTTga	p.137_138RR>S*	ZNF747_ENST00000569360.1_Missense_Mutation_p.E91L|ZNF747_ENST00000568028.1_Missense_Mutation_p.E91L|ZNF747_ENST00000395094.3_Nonsense_Mutation_p.137_138RR>S*|AC002310.13_ENST00000568114.1_Missense_Mutation_p.E80L|ZNF747_ENST00000535210.1_Missense_Mutation_p.E91L|AC002310.12_ENST00000457283.3_RNA|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	137	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TTCGGCCTTCTCCTCCACCCAG	0.688																																																	0																																										SO:0001587	stop_gained	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"Zinc fingers, C2H2-type", "-"	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.411_412delinsAA	16.37:g.30545589_30545590delinsAA	ENSP00000252799:p.R137_R138delinsS*		A8K827|B7WNU3|Q59FB4|Q96NW0	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box|pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R138*|p.E91*	ENST00000252799.3	37	c.412|c.271	CCDS10682.1	16																																																																																			ZNF747	-	pfscan_Krueppel-associated_box|superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000169955		0.688	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	-	0	36|37	0	T|C	NM_023931		30545589|30545590	-1	tier1	-	no_errors	ENST00000252799|ENST00000535210	ensembl	human	known	74_37	nonsense	12.50	35	5	SNP	0.009	A	AA	30545590	TC	AA	30545589	4	1	13	1	0	0	0	0	0	1	0	0	18178	1559	54	5	171	5	ZNF747	16	30545589	Nonsense_Mutation	DNP	TC	TCGA-IC-A6RE-01A-11D-A33E-09	6776719	30545589	59809164	537	4083											
ABCC11	85320	genome.wustl.edu	37	chr16	48264412	48264412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttcccccacggtgggaCagctgccctccctggagcct	6	8	10	17	1	0	0	0	0	0	0	2	2	2	2	5	3	4	1	5	3	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:48264412C>T	ENST00000394747.1	-	2	521	c.172G>A	c.(172-174)Gtc>Atc	p.V58I	ABCC11_ENST00000356608.2_Missense_Mutation_p.V58I|ABCC11_ENST00000394748.1_Missense_Mutation_p.V58I|ABCC11_ENST00000353782.5_Missense_Mutation_p.V58I|ABCC11_ENST00000537808.1_Missense_Mutation_p.V58I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	58					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACGGTGGGACAGCTGCCCTC	0.532																																																	0													67	61	63					16																	48264412		2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.172G>A	16.37:g.48264412C>T	ENSP00000378230:p.Val58Ile		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V58I	ENST00000394747.1	37	c.172	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664035	0.29604	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92495	-2.86;-2.77;-2.77;-2.77;-3.05	4.48	-1.18	0.09617	.	2.578920	0.01107	N	0.005481	D	0.86472	0.5941	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.71935	-0.4442	10	0.29301	T	0.29	-1.441	7.5421	0.27744	0.0:0.493:0.0:0.507	.	58;58	Q96J66-2;Q96J66	.;ABCCB_HUMAN	I	58	ENSP00000311326:V58I;ENSP00000349017:V58I;ENSP00000378231:V58I;ENSP00000378230:V58I;ENSP00000438530:V58I	ENSP00000311326:V58I	V	-	1	0	ABCC11	46821913	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.331000	0.07914	-0.224000	0.09928	0.591000	0.81541	GTC	ABCC11	-	NULL	ENSG00000121270		0.532	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0	87	0	C	NM_032583		48264412	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	48264412	C	T	48264412	3	4	13	1	0	0	0	0	1	0	0	0	51	478	17	3	4088	3	ABCC11	16	48264412	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	17718823	48264412	42090341	538	4084											
CDH11	1009	genome.wustl.edu	37	chr16	65005896	65005896	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttcataaggggcagcaaActtgggagcattatcgttga	12	10	11	8	1	1	1	1	1	0	0	2	2	1	2	1	3	3	4	1	3	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:65005896A>C	ENST00000268603.4	-	10	2077	c.1462T>G	c.(1462-1464)Ttt>Gtt	p.F488V	CDH11_ENST00000566827.1_Missense_Mutation_p.F362V|CDH11_ENST00000394156.3_Missense_Mutation_p.F488V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F488V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGGCAGCAAACTTGGGAGCA	0.483			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	1	Substitution - Missense(1)	lung(1)											109	91	97					16																	65005896		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1462T>G	16.37:g.65005896A>C	ENSP00000268603:p.Phe488Val		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F488V	ENST00000268603.4	37	c.1462	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161804	0.78226	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.30448	1.53;4.23	5.91	4.81	0.61882	Cadherin (3);Cadherin-like (1);	0.047410	0.85682	D	0.000000	T	0.37265	0.0997	M	0.64080	1.96	0.58432	D	0.999999	P;P	0.48294	0.908;0.761	P;B	0.45753	0.492;0.265	T	0.24368	-1.0162	10	0.72032	D	0.01	.	12.5362	0.56142	0.8606:0.1394:0.0:0.0	.	488;488	P55287-2;P55287	.;CAD11_HUMAN	V	488;488;471	ENSP00000268603:F488V;ENSP00000377711:F488V	ENSP00000268603:F488V	F	-	1	0	CDH11	63563397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.072000	0.76777	1.046000	0.40249	0.533000	0.62120	TTT	CDH11	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000140937		0.483	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	75	0	A	NM_033664		65005896	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	8.75	73	7	SNP	1.000	C	C	65005896	A	C	65005896	3	2	13	1	0	0	0	0	1	0	0	0	3104	43	2	4	944	4	CDH11	16	65005896	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	16741484	65005896	25348857	539	4085											
RANBP10	57610	genome.wustl.edu	37	chr16	67763629	67763629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccatgtcggggactgagGctgggggagccagggtagct	6	6	21	8	1	0	1	0	1	0	0	1	3	0	3	2	7	2	3	2	7	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:67763629G>C	ENST00000317506.3	-	9	1216	c.1101C>G	c.(1099-1101)agC>agG	p.S367R	RANBP10_ENST00000602677.1_Missense_Mutation_p.S367R|RANBP10_ENST00000536251.1_Missense_Mutation_p.S138R|RANBP10_ENST00000448631.2_Missense_Mutation_p.S311R|RANBP10_ENST00000411657.2_Missense_Mutation_p.S250R	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	367	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGGACTGAGGCTGGGGGAGC	0.612																																																	0													68	70	69					16																	67763629		2198	4300	6498	SO:0001583	missense	0			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1101C>G	16.37:g.67763629G>C	ENSP00000316589:p.Ser367Arg		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S367R	ENST00000317506.3	37	c.1101	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115286	0.37339	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.7	5.7	0.88788	.	0.125811	0.64402	D	0.000001	T	0.58637	0.2136	L	0.54323	1.7	0.80722	D	1	B;B;B	0.21381	0.0;0.055;0.003	B;B;B	0.30029	0.003;0.11;0.022	T	0.53858	-0.8379	9	0.31617	T	0.26	-13.258	11.996	0.53204	0.08:0.0:0.92:0.0	.	250;311;367	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	R	367;311;138;250	.	ENSP00000316589:S367R	S	-	3	2	RANBP10	66321130	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.229000	0.78088	2.700000	0.92200	0.563000	0.77884	AGC	RANBP10	-	NULL	ENSG00000141084		0.612	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	-	0	84	0	G	NM_020850		67763629	-1	tier1	-	no_errors	ENST00000317506	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	67763629	G	C	67763629	3	2	13	1	0	0	0	0	1	0	0	0	13071	1194	42	5	785	5	RANBP10	16	67763629	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2757733	67763629	22591124	540	4086											
TERF2	7014	genome.wustl.edu	37	chr16	69395378	69395378	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccattagagctgttccacTtgcctttgggtactctgagg	6	13	10	12	0	1	2	0	1	1	1	2	2	2	2	4	2	3	3	4	2	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:69395378T>G	ENST00000254942.3	-	8	1371	c.1355A>C	c.(1354-1356)aAg>aCg	p.K452T	TERF2_ENST00000603068.1_Missense_Mutation_p.K410T	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	452					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCTGTTCCACTTGCCTTTGGG	0.483																																					Ovarian(13;63 524 30420 31710 34037)												0													177	154	162					16																	69395378		2198	4300	6498	SO:0001583	missense	0				CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1355A>C	16.37:g.69395378T>G	ENSP00000254942:p.Lys452Thr			Missense_Mutation	SNP	pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom	p.K452T	ENST00000254942.3	37	c.1355		16	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240736	0.58995	.	.	ENSG00000132604	ENST00000254942	.	.	.	5.09	3.99	0.46301	.	0.450728	0.25217	N	0.032279	T	0.59362	0.2188	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.56547	-0.7961	9	0.29301	T	0.29	-14.3626	4.6959	0.12804	0.1673:0.091:0.0:0.7418	.	410	Q15554	TERF2_HUMAN	T	410	.	ENSP00000254942:K410T	K	-	2	0	TERF2	67952879	0.893000	0.30496	1.000000	0.80357	0.906000	0.53458	0.685000	0.25378	0.884000	0.36064	0.448000	0.29417	AAG	TERF2	-	pirsf_Telomere_repeat-bd-1/2	ENSG00000132604		0.483	TERF2-001	KNOWN	basic	protein_coding	TERF2	HGNC	protein_coding	OTTHUMT00000268944.2	-	0	68	0	T			69395378	-1	tier1	-	no_errors	ENST00000254942	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G	G	69395378	T	G	69395378	3	3	13	1	0	0	0	0	1	0	0	0	15809	1609	56	4	285	4	TERF2	16	69395378	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1631749	69395378	20959375	541	4087											
HYDIN	54768	genome.wustl.edu	37	chr16	70993683	70993683	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttttccacctctccaacTtcctccatggagtggctgtc	5	15	7	14	0	1	0	0	0	1	0	6	1	4	1	5	2	1	2	5	2	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:70993683T>G	ENST00000393567.2	-	39	6159	c.6009A>C	c.(6007-6009)gaA>gaC	p.E2003D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2003					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCTCTCCAACTTCCTCCATGG	0.502																																																	0													14	19	17					16																	70993683		1788	4030	5818	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6009A>C	16.37:g.70993683T>G	ENSP00000377197:p.Glu2003Asp		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.E2003D	ENST00000393567.2	37	c.6009	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551464	0.27739	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.41758	0.99	4.6	0.387	0.16259	.	0.378731	0.15090	U	0.281112	T	0.36166	0.0957	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	P	0.56216	0.794	T	0.17471	-1.0368	10	0.29301	T	0.29	.	5.0536	0.14522	0.0:0.3689:0.1555:0.4756	.	2002	F8WD23	.	D	2003;2002	ENSP00000377197:E2003D	ENSP00000310485:E294D	E	-	3	2	HYDIN	69551184	0.333000	0.24731	0.622000	0.29159	0.254000	0.26022	-0.886000	0.04157	-0.198000	0.10333	0.413000	0.27773	GAA	HYDIN	-	NULL	ENSG00000157423		0.502	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	33	0	T			70993683	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	20.00	20	5	SNP	0.990	G	G	70993683	T	G	70993683	3	3	13	1	0	0	0	0	1	0	0	0	7494	1606	56	4	9548	4	HYDIN	16	70993683	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1598305	70993683	19361070	542	4088											
RFWD3	55159	genome.wustl.edu	37	chr16	74670448	74670448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttgctgtaaattctgacTttgatgtgacgtaagttttt	8	18	11	4	1	1	3	0	3	1	0	1	3	1	3	0	1	1	5	0	1	3	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:74670448T>C	ENST00000361070.4	-	8	1319	c.1222A>G	c.(1222-1224)Agt>Ggt	p.S408G	RFWD3_ENST00000571750.1_Missense_Mutation_p.S408G	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	408					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AAATTCTGACTTTGATGTGAC	0.418																																																	0													62	65	64					16																	74670448		2198	4300	6498	SO:0001583	missense	0			AK001382	CCDS32486.1	16q22.3	2013-01-09						"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1222A>G	16.37:g.74670448T>C	ENSP00000354361:p.Ser408Gly		A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.S408G	ENST00000361070.4	37	c.1222	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	T	3.751	-0.051614	0.07362	.	.	ENSG00000168411	ENST00000361070	T	0.18502	2.21	5.67	1.46	0.22682	WD40/YVTN repeat-like-containing domain (1);	1.685220	0.02751	N	0.117497	T	0.07007	0.0178	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33675	-0.9859	10	0.19590	T	0.45	-3.1025	10.0978	0.42486	0.0:0.6636:0.0:0.3364	.	408	Q6PCD5	RFWD3_HUMAN	G	408	ENSP00000354361:S408G	ENSP00000354361:S408G	S	-	1	0	RFWD3	73227949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.064000	0.14437	0.045000	0.15804	-0.912000	0.02778	AGT	RFWD3	-	NULL	ENSG00000168411		0.418	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	HGNC	protein_coding	OTTHUMT00000436506.2	-	0	51	0	T	NM_018124		74670448	-1	tier1	-	no_errors	ENST00000361070	ensembl	human	known	74_37	missense	24.00	38	12	SNP	0.000	C	C	74670448	T	C	74670448	3	2	13	1	0	0	0	0	1	0	0	0	13306	1609	56	4	1126	4	RFWD3	16	74670448	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	3676765	74670448	15684305	543	4089											
FA2H	79152	genome.wustl.edu	37	chr16	74753017	74753017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaatgtccccagcatgaAgagcccggggaacatggact	12	5	14	10	1	0	2	0	1	0	1	1	6	1	5	3	4	3	1	3	4	3	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:74753017A>G	ENST00000219368.3	-	5	724	c.655T>C	c.(655-657)Ttc>Ctc	p.F219L	FA2H_ENST00000544337.1_Missense_Mutation_p.F6L	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	219					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCCAGCATGAAGAGCCCGGGG	0.597																																																	0													81	68	73					16																	74753017		2198	4300	6498	SO:0001583	missense	0			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.655T>C	16.37:g.74753017A>G	ENSP00000219368:p.Phe219Leu		B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.F219L	ENST00000219368.3	37	c.655	CCDS10911.1	16	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477393	0.63849	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.83335	-1.71;-1.71	5.57	4.45	0.53987	Fatty acid hydroxylase (1);	0.091506	0.85682	D	0.000000	D	0.87645	0.6229	M	0.64676	1.99	0.80722	D	1	D	0.69078	0.997	D	0.65140	0.932	D	0.85779	0.1360	10	0.37606	T	0.19	-6.8709	11.76	0.51896	0.8679:0.0:0.0:0.1321	.	219	Q7L5A8	FA2H_HUMAN	L	219;6	ENSP00000219368:F219L;ENSP00000442334:F6L	ENSP00000219368:F219L	F	-	1	0	FA2H	73310518	1.000000	0.71417	0.991000	0.47740	0.322000	0.28314	7.413000	0.80104	0.905000	0.36596	0.459000	0.35465	TTC	FA2H	-	pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase	ENSG00000103089		0.597	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FA2H	HGNC	protein_coding	OTTHUMT00000269015.2		0	52	0	A	NM_024306		74753017	-1			no_errors	ENST00000219368	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	G	G	74753017	A	G	74753017	3	3	13	1	0	0	0	0	1	0	0	0	5371	72	3	4	475	4	FA2H	16	74753017	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	82569	74753017	15601736	544	4090											
BCAR1	9564	genome.wustl.edu	37	chr16	75263768	75263768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgtggtcaggttggcctCacactgctccaggtagaaga	9	9	13	10	0	2	2	2	0	0	2	3	2	3	2	2	4	1	3	2	4	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:75263768C>T	ENST00000162330.5	-	7	2380	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	BCAR1_ENST00000538440.2_Missense_Mutation_p.E752K|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393420.6_Missense_Mutation_p.E770K|BCAR1_ENST00000418647.3_Missense_Mutation_p.E798K|BCAR1_ENST00000393422.2_Missense_Mutation_p.E770K|BCAR1_ENST00000542031.2_Missense_Mutation_p.E750K|BCAR1_ENST00000546196.1_Missense_Mutation_p.E723K|BCAR1_ENST00000535626.2_Missense_Mutation_p.E604K|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.E770K	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	752	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGTTGGCCTCACACTGCTCC	0.667																																																	0													67	64	65					16																	75263768		2198	4300	6498	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2254G>A	16.37:g.75263768C>T	ENSP00000162330:p.Glu752Lys		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.E798K	ENST00000162330.5	37	c.2392	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760379	0.89932	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93;1.93	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	M	0.65498	2.005	0.51233	D	0.999916	D;D;D;D;D;D;D;D;D	0.76494	0.983;0.999;0.983;0.979;0.979;0.983;0.999;0.983;0.999	D;D;D;D;D;D;D;D;D	0.80764	0.969;0.99;0.969;0.948;0.948;0.969;0.99;0.969;0.994	T	0.48736	-0.9009	10	0.48119	T	0.1	-40.6422	16.5844	0.84724	0.0:1.0:0.0:0.0	.	770;604;798;750;770;770;752;752;542	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	K	752;770;770;752;798;604;770;750;723	ENSP00000162330:E752K;ENSP00000377074:E770K;ENSP00000392708:E770K;ENSP00000443841:E752K;ENSP00000391669:E798K;ENSP00000440370:E604K;ENSP00000377072:E770K;ENSP00000440415:E750K;ENSP00000442161:E723K	ENSP00000162330:E752K	E	-	1	0	BCAR1	73821269	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	4.646000	0.61411	2.310000	0.77875	0.563000	0.77884	GAG	BCAR1	-	pfam_CAS_DUF3513	ENSG00000050820		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0	113	0	C	NM_014567		75263768	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	20.73	65	17	SNP	0.999	T	T	75263768	C	T	75263768	3	4	13	1	0	0	0	0	1	0	0	0	1349	835	29	3	362	3	BCAR1	16	75263768	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	510751	75263768	15090985	545	4091											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77353779	77353779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcatttgtgggccctggCgcgtacagacgttccgggcg	4	10	15	12	5	1	1	1	0	1	1	3	1	2	1	2	3	1	2	2	3	1	3	rs538095477		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr16:77353779C>T	ENST00000282849.5	-	16	2917	c.2499G>A	c.(2497-2499)gcG>gcA	p.A833A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A833A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGCCCTGGCGCGTACAGAC	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)											60	60	60					16																	77353779		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2499G>A	16.37:g.77353779C>T			Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A833	ENST00000282849.5	37	c.2499	CCDS10926.1	16																																																																																			ADAMTS18	-	pfam_ADAM_spacer1	ENSG00000140873		0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0	82	0	C			77353779	-1	tier1	-	no_errors	ENST00000282849	ensembl	human	known	74_37	silent	33.33	34	17	SNP	0.004	T	T	77353779	C	T	77353779	2	4	13	1	0	0	0	0	0	0	0	1	263	755	27	1		1	ADAMTS18	16	77353779	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2090011	77353779	13000974	546	4092											
SGSM2	9905	genome.wustl.edu	37	chr17	2276309	2276309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagagcacgagatccgCaaggacgtctggccctttct	9	8	12	12	3	2	2	0	0	2	2	3	4	3	3	2	3	1	3	2	3	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:2276309C>T	ENST00000426855.2	+	15	1891	c.1716C>T	c.(1714-1716)cgC>cgT	p.R572R	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000268989.3_Silent_p.R617R|SGSM2_ENST00000574563.1_Silent_p.R572R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	572	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		ACGAGATCCGCAAGGACGTCT	0.577																																																	0													76	59	64					17																	2276309		2200	4299	6499	SO:0001819	synonymous_variant	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1716C>T	17.37:g.2276309C>T			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R617	ENST00000426855.2	37	c.1851	CCDS45570.1	17																																																																																			SGSM2	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000141258		0.577	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0	80	0	C	NM_014853		2276309	1	tier1	-	no_errors	ENST00000268989	ensembl	human	known	74_37	silent	14.10	67	11	SNP	0.969	T	T	2276309	C	T	2276309	2	4	13	1	0	0	0	0	0	0	0	1	14268	697	25	3		3	SGSM2	17	2276309	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09		2276309	78918901	547	4093											
ASPA	443	genome.wustl.edu	37	chr17	3397735	3397735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggagaaattgctgctatCatccatcctaatctgcaggt	12	12	8	9	0	2	1	1	0	1	1	4	2	4	1	2	2	3	3	2	2	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:3397735C>A	ENST00000263080.2	+	5	884	c.726C>A	c.(724-726)atC>atA	p.I242I	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.I242I	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	242					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGCTATCATCCATCCTA	0.353																																																	0													154	168	163					17																	3397735		2203	4300	6503	SO:0001819	synonymous_variant	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.726C>A	17.37:g.3397735C>A				Silent	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.I242	ENST00000263080.2	37	c.726	CCDS11028.1	17																																																																																			ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.353	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	-	0	42	0	C	NM_000049		3397735	1	tier1	-	no_errors	ENST00000263080	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.031	A	A	3397735	C	A	3397735	2	1	13	1	0	0	0	0	0	0	0	1	1051	816	29	3		3	ASPA	17	3397735	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1121426	3397735	77797475	548	4094											
SPNS3	201305	genome.wustl.edu	37	chr17	4352620	4352620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaagtttctgctcgaGgcacgcgtggttcacgggct	5	9	13	14	4	2	0	1	0	1	0	3	1	2	0	2	3	1	5	2	3	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:4352620G>T	ENST00000355530.2	+	7	1141	c.861G>T	c.(859-861)gaG>gaT	p.E287D	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.E160D	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	287					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TTCTGCTCGAGGCACGCGTGG	0.677																																																	0													64	57	59					17																	4352620		2203	4300	6503	SO:0001583	missense	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.861G>T	17.37:g.4352620G>T	ENSP00000347721:p.Glu287Asp		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E287D	ENST00000355530.2	37	c.861	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	g	9.069	0.996481	0.19043	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58652	0.32;0.32	5.05	-2.58	0.06228	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.147023	0.48286	D	0.000196	T	0.43055	0.1230	L	0.50333	1.59	0.19575	N	0.999969	B;B	0.33345	0.409;0.001	B;B	0.33960	0.173;0.016	T	0.32929	-0.9888	10	0.41790	T	0.15	-26.6466	6.6929	0.23183	0.5511:0.1311:0.3179:0.0	.	160;287	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	D	287;160	ENSP00000347721:E287D;ENSP00000333207:E160D	ENSP00000333207:E160D	E	+	3	2	SPNS3	4299369	0.826000	0.29277	0.961000	0.40146	0.007000	0.05969	-0.031000	0.12287	-0.272000	0.09259	-0.144000	0.13903	GAG	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000182557		0.677	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	-	0	37	0	G	NM_182538		4352620	1	tier1	-	no_errors	ENST00000355530	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.481	T	T	4352620	G	T	4352620	3	4	13	1	0	0	0	0	1	0	0	0	15123	991	35	3	887	3	SPNS3	17	4352620	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	954885	4352620	76842590	549	4095											
PELP1	27043	genome.wustl.edu	37	chr17	4578413	4578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggagagagggaatctctaCcgatgctccaggaattgagg	11	8	14	8	1	1	2	0	1	1	1	3	7	2	5	2	4	2	1	2	4	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:4578413C>T	ENST00000574876.1	-	11	1252	c.1235G>A	c.(1234-1236)gGt>gAt	p.G412D	PELP1_ENST00000572293.1_Missense_Mutation_p.G462D|PELP1_ENST00000301396.4_Missense_Mutation_p.G556D|PELP1_ENST00000436683.2_Missense_Mutation_p.G265D|PELP1_ENST00000269230.7_Missense_Mutation_p.G410D|AC091153.4_ENST00000441700.2_RNA			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	412					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGAATCTCTACCGATGCTCCA	0.602																																																	0													30	31	31					17																	4578413		1909	4118	6027	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1235G>A	17.37:g.4578413C>T	ENSP00000461625:p.Gly412Asp		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.G556D	ENST00000574876.1	37	c.1667	CCDS58503.1	17	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189601	0.38707	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.46819	0.86;0.97;1.51	5.59	5.59	0.84812	.	0.131315	0.52532	D	0.000074	T	0.39279	0.1072	L	0.54323	1.7	0.39350	D	0.965737	P;P	0.37015	0.578;0.578	B;B	0.31547	0.132;0.132	T	0.36696	-0.9737	10	0.37606	T	0.19	-16.5967	10.5014	0.44808	0.0:0.9118:0.0:0.0882	.	265;412	E7EV54;Q8IZL8	.;PELP1_HUMAN	D	556;410;265	ENSP00000301396:G556D;ENSP00000269230:G410D;ENSP00000416231:G265D	ENSP00000269230:G410D	G	-	2	0	AC091153.1	4525162	0.081000	0.21417	0.972000	0.41901	0.958000	0.62258	2.395000	0.44459	2.636000	0.89361	0.561000	0.74099	GGT	PELP1	-	NULL	ENSG00000141456		0.602	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	-	0	123	0	C	NM_014389		4578413	-1	tier1	-	no_errors	ENST00000301396	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.959	T	T	4578413	C	T	4578413	3	4	13	1	0	0	0	0	1	0	0	0	11764	507	18	3	2185	3	PELP1	17	4578413	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	225793	4578413	76616797	550	4096											
ZBTB4	57659	genome.wustl.edu	37	chr17	7369677	7369677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccaccaccaggcagtgcGagccgggcgctgtagatgaa	9	5	13	14	3	0	2	0	1	0	1	1	3	1	2	5	2	2	3	5	2	2	1	rs146654674		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:7369677G>A	ENST00000311403.4	-	3	783	c.444C>T	c.(442-444)ctC>ctT	p.L148L	ZBTB4_ENST00000380599.4_Silent_p.L148L	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	148	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CAGGCAGTGCGAGCCGGGCGC	0.657																																																	0								G	,	1,4403		0,1,2201	20	22	21		444,444	-2.9	1	17	dbSNP_134	21	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	ZBTB4	NM_001128833.1,NM_020899.3	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	148/1014,148/1014	7369677	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.444C>T	17.37:g.7369677G>A			B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L148	ENST00000311403.4	37	c.444	CCDS11107.1	17																																																																																			ZBTB4	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000174282		0.657	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0	120	0	G	NM_020899		7369677	-1	tier1	rs146654674	no_errors	ENST00000311403	ensembl	human	known	74_37	silent	21.35	70	19	SNP	0.271	A	A	7369677	G	A	7369677	2	1	13	1	0	0	0	0	0	0	0	1	17589	1045	37	1		1	ZBTB4	17	7369677	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2791264	7369677	73825533	551	4097											
TP53	7157	genome.wustl.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:7577099C>T	ENST00000269305.4	-	8	1028	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R280K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGCCGGTCTCTCCCAGGACA	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(1)	GRCh37	CM993218	TP53	M	rs121912660						77	67	70					17																	7577099		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.839G>A	17.37:g.7577099C>T	ENSP00000269305:p.Arg280Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R280K	ENST00000269305.4	37	c.839	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.663043	0.96745	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;P	0.69078	0.972;0.997;0.977;0.896	D;D;D;D	0.85130	0.942;0.997;0.941;0.921	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	280;280;280;280;280;269;148	ENSP00000352610:R280K;ENSP00000269305:R280K;ENSP00000398846:R280K;ENSP00000391127:R280K;ENSP00000391478:R280K;ENSP00000425104:R148K	ENSP00000269305:R280K	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	45	0	C	NM_000546		7577099	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	T	T	7577099	C	T	7577099	3	4	13	1	0	0	0	0	1	0	0	0	16429	913	32	3	447	3	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	207422	7577099	73618111	552	4098											
MYH1	4619	genome.wustl.edu	37	chr17	10399820	10399820	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttgacttggttcaacTcaagctggatgcgcaggatc	10	10	11	10	1	2	2	2	1	0	1	3	4	2	4	0	3	3	3	0	3	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:10399820T>G	ENST00000226207.5	-	34	4797	c.4703A>C	c.(4702-4704)gAg>gCg	p.E1568A	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1568					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGTTCAACTCAAGCTGGAT	0.413																																																	0													106	106	106					17																	10399820		2203	4297	6500	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4703A>C	17.37:g.10399820T>G	ENSP00000226207:p.Glu1568Ala		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1568A	ENST00000226207.5	37	c.4703	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275113	0.80580	.	.	ENSG00000109061	ENST00000226207	T	0.80824	-1.42	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.89413	0.6708	M	0.83603	2.65	0.58432	D	0.999999	P	0.42908	0.793	P	0.58210	0.835	D	0.90727	0.4639	10	0.87932	D	0	.	15.9239	0.79597	0.0:0.0:0.0:1.0	.	1568	P12882	MYH1_HUMAN	A	1568	ENSP00000226207:E1568A	ENSP00000226207:E1568A	E	-	2	0	MYH1	10340545	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.972000	0.88022	2.207000	0.71202	0.533000	0.62120	GAG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.413	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	52	0	T	NM_005963		10399820	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	G	G	10399820	T	G	10399820	3	3	13	1	0	0	0	0	1	0	0	0	10067	1551	54	4	1144	4	MYH1	17	10399820	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2822721	10399820	70795390	553	4099											
DNAH9	1770	genome.wustl.edu	37	chr17	11511558	11511558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtgacctctcagttatacTtgagcaagtgaagggaaaaa	15	10	10	6	0	1	3	1	3	1	0	2	4	1	4	1	1	2	2	1	1	6	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:11511558T>A	ENST00000262442.4	+	2	598	c.530T>A	c.(529-531)cTt>cAt	p.L177H	DNAH9_ENST00000454412.2_Missense_Mutation_p.L177H|DNAH9_ENST00000579828.1_Missense_Mutation_p.L177H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	177	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCAGTTATACTTGAGCAAGTG	0.507																																																	0													137	136	136					17																	11511558		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.530T>A	17.37:g.11511558T>A	ENSP00000262442:p.Leu177His		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L177H	ENST00000262442.4	37	c.530	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166982	0.38217	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.26373	1.78;1.74	5.85	5.85	0.93711	.	0.547984	0.18159	N	0.149841	T	0.34513	0.0900	M	0.63428	1.95	0.80722	D	1	B;P	0.40553	0.438;0.721	B;B	0.42738	0.212;0.396	T	0.06356	-1.0831	10	0.45353	T	0.12	.	15.899	0.79359	0.0:0.0:0.0:1.0	.	177;177	Q9NYC9;E7EP17	DYH9_HUMAN;.	H	177	ENSP00000262442:L177H;ENSP00000414874:L177H	ENSP00000262442:L177H	L	+	2	0	DNAH9	11452283	0.989000	0.36119	0.301000	0.25044	0.188000	0.23474	4.628000	0.61282	2.222000	0.72286	0.533000	0.62120	CTT	DNAH9	-	NULL	ENSG00000007174		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	53	0	T	NM_001372		11511558	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.763	A	A	11511558	T	A	11511558	3	1	13	1	0	0	0	0	1	0	0	0	4622	1609	56	5	536	5	DNAH9	17	11511558	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1111738	11511558	69683652	554	4100											
TNFAIP1	7126	genome.wustl.edu	37	chr17	26667392	26667392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caccattttgaattacctccGagatgacaccatcaccctcc	11	10	4	16	1	1	3	1	2	0	1	3	4	3	3	6	0	1	0	6	0	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:26667392G>C	ENST00000226225.2	+	3	530	c.263G>C	c.(262-264)cGa>cCa	p.R88P	TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_5'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				apoptotic process (GO:0006915)|cell migration (GO:0016477)|DNA replication (GO:0006260)|embryo development (GO:0009790)|immune response (GO:0006955)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleolus (GO:0005730)	GTP-Rho binding (GO:0017049)			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AATTACCTCCGAGATGACACC	0.512																																																	0													167	150	156					17																	26667392		2203	4300	6503	SO:0001583	missense	0				CCDS11227.1	17q22-q23	2013-01-09			ENSG00000109079	ENSG00000109079		"BTB/POZ domain containing"	11894	protein-coding gene	gene with protein product		191161		EDP1		2406243, 2233719	Standard	NM_021137		Approved	B61, B12, MGC2317, BTBD34	uc002hay.3	Q13829	OTTHUMG00000132501	ENST00000226225.2:c.263G>C	17.37:g.26667392G>C	ENSP00000226225:p.Arg88Pro		B7Z6M4|Q5TZQ1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R88P	ENST00000226225.2	37	c.263	CCDS11227.1	17	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412458	0.42817	.	.	ENSG00000109079	ENST00000226225	T	0.80653	-1.4	6.17	3.1	0.35709	BTB/POZ-like (2);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.069834	0.64402	D	0.000013	D	0.92528	0.7627	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91252	0.5030	10	0.87932	D	0	-5.6837	8.3331	0.32197	0.1312:0.0:0.7415:0.1273	.	88	Q13829	BACD2_HUMAN	P	88	ENSP00000226225:R88P	ENSP00000226225:R88P	R	+	2	0	TNFAIP1	23691519	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.869000	0.99810	0.470000	0.27294	0.655000	0.94253	CGA	TNFAIP1	-	pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000109079		0.512	TNFAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP1	HGNC	protein_coding	OTTHUMT00000255681.2	-	0	68	0	G	NM_021137		26667392	1	tier1	-	no_errors	ENST00000226225	ensembl	human	known	74_37	missense	19.51	66	16	SNP	1.000	C	C	26667392	G	C	26667392	3	2	13	1	0	0	0	0	1	0	0	0	16319	1058	37	5	269	5	TNFAIP1	17	26667392	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	15155834	26667392	54527818	555	4101											
TRAF4	9618	genome.wustl.edu	37	chr17	27071173	27071173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagaagcccaagcgaCggctgctgtgcccactgtgc	7	7	13	14	2	0	1	0	0	0	1	1	3	1	1	3	2	5	2	3	2	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:27071173C>G	ENST00000262395.5	+	1	172	c.43C>G	c.(43-45)Cgg>Ggg	p.R15G	AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000262396.6_Missense_Mutation_p.R15G|TRAF4_ENST00000444415.3_Missense_Mutation_p.R15G|AC010761.6_ENST00000582536.1_RNA|AC010761.9_ENST00000577325.1_RNA	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	15					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCAAGCGACGGCTGCTGTG	0.697																																																	0													19	23	21					17																	27071173		2200	4300	6500	SO:0001583	missense	0			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.43C>G	17.37:g.27071173C>G	ENSP00000262395:p.Arg15Gly		O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R15G	ENST00000262395.5	37	c.43	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	c	14.78	2.637143	0.47049	.	.	ENSG00000076604	ENST00000262395;ENST00000454852;ENST00000422344;ENST00000444415;ENST00000262396;ENST00000394924;ENST00000394925	T;T;T;T	0.26373	2.12;2.32;1.76;1.74	4.08	2.05	0.26809	Zinc finger, RING/FYVE/PHD-type (1);	0.073354	0.53938	D	0.000043	T	0.17619	0.0423	L	0.28054	0.825	0.38768	D	0.954476	P;P	0.38827	0.649;0.626	B;B	0.41917	0.097;0.37	T	0.07028	-1.0794	10	0.87932	D	0	.	4.7122	0.12879	0.3846:0.5106:0.0:0.1048	.	15;15	Q9BUZ4;Q9BUZ4-2	TRAF4_HUMAN;.	G	15	ENSP00000262395:R15G;ENSP00000415789:R15G;ENSP00000438154:R15G;ENSP00000262396:R15G	ENSP00000262395:R15G	R	+	1	2	TRAF4	24095300	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.192000	0.42649	0.379000	0.24794	0.538000	0.68166	CGG	TRAF4	-	pirsf_TNF_rcpt--assoc_TRAF	ENSG00000076604		0.697	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	-	0	23	0	C	NM_145751		27071173	1	tier1	-	no_errors	ENST00000262395	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G	G	27071173	C	G	27071173	3	3	13	1	0	0	0	0	1	0	0	0	16491	527	19	5	45	5	TRAF4	17	27071173	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	403781	27071173	54124037	556	4102											
ABHD15	116236	genome.wustl.edu	37	chr17	27889973	27889973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcccggagcgggtcgttgCggtcccagtaggtatcccag	6	8	14	13	4	0	0	0	0	0	0	4	1	3	1	3	4	2	3	3	4	2	3	rs540488510		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:27889973C>T	ENST00000307201.4	-	2	1183	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	338						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGGGTCGTTGCGGTCCCAGTA	0.597													C|||	1	0.000199681	0	0	5008	,	,		18451	0		0	False		,,,				2504	0.001																0													68	62	64					17																	27889973		2203	4300	6503	SO:0001583	missense	0			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"Abhydrolase domain containing"	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1013G>A	17.37:g.27889973C>T	ENSP00000302657:p.Arg338His		Q96EC5	Missense_Mutation	SNP	pirsf_AB-Hydro_YheT	p.R338H	ENST00000307201.4	37	c.1013	CCDS32602.1	17	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024774	0.35701	.	.	ENSG00000168792	ENST00000307201	T	0.16324	2.35	5.92	-3.92	0.04155	.	0.492245	0.20683	N	0.087603	T	0.06600	0.0169	N	0.12746	0.255	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.21245	-1.0251	10	0.33940	T	0.23	-9.8671	5.604	0.17369	0.2096:0.3186:0.0:0.4719	.	338	Q6UXT9	ABH15_HUMAN	H	338	ENSP00000302657:R338H	ENSP00000302657:R338H	R	-	2	0	ABHD15	24914099	0.001000	0.12720	0.949000	0.38748	0.992000	0.81027	-0.003000	0.12901	-0.514000	0.06488	-0.140000	0.14226	CGC	ABHD15	-	pirsf_AB-Hydro_YheT	ENSG00000168792		0.597	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD15	HGNC	protein_coding	OTTHUMT00000447796.2	-	0	82	0	C	NM_198147		27889973	-1	tier1	-	no_errors	ENST00000307201	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.003	T	T	27889973	C	T	27889973	3	4	13	1	0	0	0	0	1	0	0	0	81	768	27	1	397	1	ABHD15	17	27889973	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	818800	27889973	53305237	557	4103											
SLFN5	162394	genome.wustl.edu	37	chr17	33592830	33592830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccaggagtagccccaccgGctggggcctacaatcttctg	8	8	11	14	1	2	0	0	0	2	0	3	1	3	1	5	4	2	2	5	4	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:33592830G>C	ENST00000299977.4	+	5	2747	c.2599G>C	c.(2599-2601)Gct>Cct	p.A867P	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	867					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGCCCCACCGGCTGGGGCCTA	0.468																																																	0													60	65	63					17																	33592830		2203	4300	6503	SO:0001583	missense	0			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2599G>C	17.37:g.33592830G>C	ENSP00000299977:p.Ala867Pro		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.A867P	ENST00000299977.4	37	c.2599	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	g	12.09	1.834848	0.32421	.	.	ENSG00000166750	ENST00000299977	D	0.83163	-1.69	3.28	0.958	0.19619	.	2.144180	0.02561	N	0.096751	T	0.74680	0.3748	L	0.35793	1.09	0.09310	N	1	P	0.44578	0.838	B	0.38655	0.278	T	0.65150	-0.6238	10	0.41790	T	0.15	.	5.2557	0.15546	0.0:0.2317:0.5304:0.2378	.	867	Q08AF3	SLFN5_HUMAN	P	867	ENSP00000299977:A867P	ENSP00000299977:A867P	A	+	1	0	SLFN5	30616943	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.706000	0.25690	0.684000	0.31448	-0.182000	0.12963	GCT	SLFN5	-	superfamily_P-loop_NTPase	ENSG00000166750		0.468	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	-	0	29	0	G	NM_144975		33592830	1	tier1	-	no_errors	ENST00000299977	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	C	C	33592830	G	C	33592830	3	2	13	1	0	0	0	0	1	0	0	0	14782	1203	42	5	2613	5	SLFN5	17	33592830	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5702857	33592830	47602380	558	4104											
CDK12	51755	genome.wustl.edu	37	chr17	37657541	37657541	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagtatatggaccatgacTtaatgggactgctagaatct	12	13	10	6	0	1	3	0	2	1	1	1	5	1	5	1	2	1	2	1	2	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:37657541T>A	ENST00000447079.4	+	6	2491	c.2458T>A	c.(2458-2460)Tta>Ata	p.L820I	CDK12_ENST00000430627.2_Missense_Mutation_p.L820I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGACCATGACTTAATGGGACT	0.348			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													143	140	141					17																	37657541		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2458T>A	17.37:g.37657541T>A	ENSP00000398880:p.Leu820Ile		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L820I	ENST00000447079.4	37	c.2458	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	t	19.63	3.863314	0.71949	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.66460	-0.21;-0.21	5.83	4.75	0.60458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38605	N	0.001636	T	0.79718	0.4494	M	0.84948	2.725	0.51767	D	0.999931	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.87578	0.998;0.998;0.996	T	0.81402	-0.0949	10	0.87932	D	0	-5.9902	4.729	0.12955	0.0:0.2598:0.0:0.7402	.	819;820;820	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	I	820	ENSP00000407720:L820I;ENSP00000398880:L820I	ENSP00000407720:L820I	L	+	1	2	CDK12	34911067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.569000	0.45973	2.233000	0.73108	0.529000	0.55759	TTA	CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.348	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0	104	0	T	NM_016507		37657541	1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	12.29	207	29	SNP	1.000	A	A	37657541	T	A	37657541	3	1	13	1	0	0	0	0	1	0	0	0	3135	1606	56	5	2480	5	CDK12	17	37657541	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	4064711	37657541	43537669	559	4105											
KRT24	192666	genome.wustl.edu	37	chr17	38859476	38859476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctccagggctctgaccTtgtctaggtaattggccaag	7	11	10	13	0	2	1	0	1	2	0	4	1	4	1	5	3	0	2	5	3	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38859476T>G	ENST00000264651.2	-	1	526	c.470A>C	c.(469-471)aAg>aCg	p.K157T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	157	Coil 1A.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCTCTGACCTTGTCTAGGTA	0.532																																					GBM(61;380 1051 14702 23642 31441)												0													206	205	206					17																	38859476		2203	4300	6503	SO:0001583	missense	0				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"-", "Intermediate filaments type I, keratins (acidic)"	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.470A>C	17.37:g.38859476T>G	ENSP00000264651:p.Lys157Thr		Q9NXG7	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K157T	ENST00000264651.2	37	c.470	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	T	26.4	4.733847	0.89482	.	.	ENSG00000167916	ENST00000264651	D	0.93953	-3.32	5.6	5.6	0.85130	Filament (1);	.	.	.	.	D	0.97028	0.9029	M	0.88906	2.99	0.53688	D	0.999979	D	0.76494	0.999	D	0.73708	0.981	D	0.97762	1.0221	9	0.87932	D	0	.	15.2574	0.73596	0.0:0.0:0.0:1.0	.	157	Q2M2I5	K1C24_HUMAN	T	157	ENSP00000264651:K157T	ENSP00000264651:K157T	K	-	2	0	KRT24	36113002	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.078000	0.64425	2.259000	0.74868	0.533000	0.62120	AAG	KRT24	-	pfam_IF	ENSG00000167916		0.532	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	-	0	60	0	T	NM_019016		38859476	-1	tier1	-	no_errors	ENST00000264651	ensembl	human	known	74_37	missense	8.53	118	11	SNP	1.000	G	G	38859476	T	G	38859476	3	3	13	1	0	0	0	0	1	0	0	0	8488	1609	56	4	1139	4	KRT24	17	38859476	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1201935	38859476	42335734	560	4106											
KRT26	353288	genome.wustl.edu	37	chr17	38928284	38928284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacacattcccagccacgaAgcctgttcctccaccggaca	11	6	6	18	2	0	0	0	0	0	0	3	2	3	1	6	1	2	1	6	1	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38928284A>C	ENST00000335552.4	-	1	130	c.82T>G	c.(82-84)Ttc>Gtc	p.F28V		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCAGCCACGAAGCCTGTTCCT	0.562																																																	0													116	119	118					17																	38928284		2203	4300	6503	SO:0001583	missense	0			AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"-", "Intermediate filaments type I, keratins (acidic)"	30840	protein-coding gene	gene with protein product			"keratin 25B"	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.82T>G	17.37:g.38928284A>C	ENSP00000334798:p.Phe28Val			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.F28V	ENST00000335552.4	37	c.82	CCDS11374.1	17	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177410	0.38413	.	.	ENSG00000186393	ENST00000335552	D	0.82711	-1.64	5.39	4.3	0.51218	.	0.370853	0.23541	N	0.047062	T	0.73179	0.3554	N	0.19112	0.55	0.20821	N	0.999845	B	0.27117	0.168	B	0.34824	0.19	T	0.65364	-0.6186	10	0.44086	T	0.13	.	10.2092	0.43131	0.922:0.0:0.078:0.0	.	28	Q7Z3Y9	K1C26_HUMAN	V	28	ENSP00000334798:F28V	ENSP00000334798:F28V	F	-	1	0	KRT26	36181810	0.041000	0.20044	0.099000	0.21106	0.710000	0.40934	1.208000	0.32345	2.173000	0.68751	0.533000	0.62120	TTC	KRT26	-	NULL	ENSG00000186393		0.562	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT26	HGNC	protein_coding	OTTHUMT00000257215.1	-	0	102	0	A	NM_181539		38928284	-1	tier1	-	no_errors	ENST00000335552	ensembl	human	known	74_37	missense	10.00	98	11	SNP	0.277	C	C	38928284	A	C	38928284	3	2	13	1	0	0	0	0	1	0	0	0	8490	72	3	4	1356	4	KRT26	17	38928284	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	68808	38928284	42266926	561	4107											
KRT27	342574	genome.wustl.edu	37	chr17	38938665	38938665	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagccccaaagcctgcTcccccactagagagcctcac	9	7	6	19	0	1	1	1	0	0	1	3	2	3	1	7	0	4	1	7	0	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:38938665T>G	ENST00000301656.3	-	1	121	c.81A>C	c.(79-81)ggA>ggC	p.G27G		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAAAGCCTGCTCCCCCACTAG	0.602																																																	0													52	49	50					17																	38938665		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.81A>C	17.37:g.38938665T>G				Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.G27	ENST00000301656.3	37	c.81	CCDS11375.1	17																																																																																			KRT27	-	NULL	ENSG00000171446		0.602	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	-	0	55	0	T	NM_181537		38938665	-1	tier1	-	no_errors	ENST00000301656	ensembl	human	known	74_37	silent	6.82	81	6	SNP	0.009	G	G	38938665	T	G	38938665	2	3	13	1	0	0	0	0	0	0	0	1	8491	1538	54	4		4	KRT27	17	38938665	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	10381	38938665	42256545	562	4108											
CNTNAP1	8506	genome.wustl.edu	37	chr17	40847736	40847736	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctgcccgactaccccCggcctggtcggcctgtgccc	3	6	11	21	4	0	0	0	0	0	0	1	1	0	0	8	3	3	0	8	3	1	1	rs143542325		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:40847736C>G	ENST00000264638.4	+	19	3407	c.3190C>G	c.(3190-3192)Cgg>Ggg	p.R1064G	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1064					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGACTACCCCCGGCCTGGTCG	0.657																																																	0													55	55	55					17																	40847736		2203	4300	6503	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3190C>G	17.37:g.40847736C>G	ENSP00000264638:p.Arg1064Gly			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R1064G	ENST00000264638.4	37	c.3190	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980528	0.34942	.	.	ENSG00000108797	ENST00000264638	D	0.90324	-2.65	5.52	3.45	0.39498	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.405134	0.21067	N	0.080731	T	0.79592	0.4472	N	0.08118	0	0.09310	N	1	B	0.26602	0.154	B	0.23419	0.046	T	0.64241	-0.6454	10	0.22706	T	0.39	.	12.968	0.58497	0.2952:0.7048:0.0:0.0	.	1064	P78357	CNTP1_HUMAN	G	1064	ENSP00000264638:R1064G	ENSP00000264638:R1064G	R	+	1	2	CNTNAP1	38101262	0.598000	0.26882	0.129000	0.21949	0.976000	0.68499	1.068000	0.30629	0.616000	0.30141	0.655000	0.94253	CGG	CNTNAP1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000108797		0.657	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1		0	55	0	C	NM_003632		40847736	1			no_errors	ENST00000264638	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.050	G	G	40847736	C	G	40847736	3	3	13	1	0	0	0	0	1	0	0	0	3653	643	23	5	3264	5	CNTNAP1	17	40847736	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1909071	40847736	40347474	563	4109											
HOXB2	3212	genome.wustl.edu	37	chr17	46622245	46622245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggctggctgtttataaacCcaatctccctctcaaattca	11	12	5	13	1	3	0	2	0	2	0	5	0	3	0	2	2	1	3	2	2	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:46622245C>T	ENST00000330070.4	-	1	1196	c.29G>A	c.(28-30)gGg>gAg	p.G10E	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	10					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GTTTATAAACCCAATCTCCCT	0.537																																																	0													41	47	45					17																	46622245		2203	4300	6503	SO:0001583	missense	0				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.29G>A	17.37:g.46622245C>T	ENSP00000331741:p.Gly10Glu		P10913|P17485	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G10E	ENST00000330070.4	37	c.29	CCDS11527.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960919	0.92791	.	.	ENSG00000173917	ENST00000330070	D	0.91464	-2.85	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.93236	0.7845	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93963	0.7242	10	0.87932	D	0	.	16.8006	0.85613	0.0:1.0:0.0:0.0	.	10	P14652	HXB2_HUMAN	E	10	ENSP00000331741:G10E	ENSP00000331741:G10E	G	-	2	0	HOXB2	43977244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.197000	0.77814	2.560000	0.86352	0.650000	0.86243	GGG	HOXB2	-	NULL	ENSG00000173917		0.537	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	-	0	251	0	C			46622245	-1	tier1	-	no_errors	ENST00000330070	ensembl	human	known	74_37	missense	18.52	132	30	SNP	1.000	T	T	46622245	C	T	46622245	3	4	13	1	0	0	0	0	1	0	0	0	7328	623	22	3	1049	3	HOXB2	17	46622245	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	5774509	46622245	34572965	564	4110											
GDPD1	284161	genome.wustl.edu	37	chr17	57344462	57344462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcattcttggccttttcTtcactggcctcttgcccttt	2	19	6	14	0	5	0	2	0	3	0	5	0	5	0	3	2	2	1	3	2	0	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:57344462T>G	ENST00000284116.4	+	7	774	c.637T>G	c.(637-639)Ttc>Gtc	p.F213V	GDPD1_ENST00000581276.1_Missense_Mutation_p.F213V|GDPD1_ENST00000581140.1_Missense_Mutation_p.F213V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	213	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TGGCCTTTTCTTCACTGGCCT	0.358																																																	0													193	172	179					17																	57344462		2202	4299	6501	SO:0001583	missense	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.637T>G	17.37:g.57344462T>G	ENSP00000284116:p.Phe213Val		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.F213V	ENST00000284116.4	37	c.637	CCDS11616.1	17	.	.	.	.	.	.	.	.	.	.	T	15.31	2.794558	0.50102	.	.	ENSG00000153982	ENST00000284116	T	0.10960	2.82	5.57	5.57	0.84162	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.102463	0.64402	D	0.000001	T	0.07413	0.0187	N	0.11313	0.125	0.46011	D	0.998815	B;B	0.28783	0.222;0.185	B;B	0.28139	0.082;0.086	T	0.38672	-0.9650	10	0.39692	T	0.17	-22.7062	14.9174	0.70807	0.0:0.0:0.0:1.0	.	213;213	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	V	213	ENSP00000284116:F213V	ENSP00000284116:F213V	F	+	1	0	GDPD1	54699244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.133000	0.65898	0.528000	0.53228	TTC	GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.358	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	-	0	100	0	T	NM_182569		57344462	1	tier1	-	no_errors	ENST00000284116	ensembl	human	known	74_37	missense	19.54	70	17	SNP	1.000	G	G	57344462	T	G	57344462	3	3	13	1	0	0	0	0	1	0	0	0	6349	1609	56	4	663	4	GDPD1	17	57344462	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	10722217	57344462	23850748	565	4111											
BCAS3	54828	genome.wustl.edu	37	chr17	59152324	59152324	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccattactcgacatgggtcTtacgacagtttagcttctga	9	13	8	11	2	2	1	0	1	2	0	3	3	2	1	1	1	3	2	1	1	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:59152324T>G	ENST00000390652.5	+	21	2149	c.2118T>G	c.(2116-2118)tcT>tcG	p.S706S	BCAS3_ENST00000408905.3_Silent_p.S691S|BCAS3_ENST00000585744.1_Silent_p.S477S|BCAS3_ENST00000407086.3_Silent_p.S691S|BCAS3_ENST00000588462.1_Silent_p.S706S|BCAS3_ENST00000589222.1_Silent_p.S691S|BCAS3_ENST00000588874.1_Silent_p.S462S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GACATGGGTCTTACGACAGTT	0.398																																																	0													105	99	101					17																	59152324		1834	4091	5925	SO:0001819	synonymous_variant	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.2118T>G	17.37:g.59152324T>G				Silent	SNP	pfam_BCAS3,pfam_WD40_repeat	p.S706	ENST00000390652.5	37	c.2118	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170444	0.21621	.	.	ENSG00000141376	ENST00000360207	.	.	.	5.83	1.13	0.20643	.	.	.	.	.	T	0.69593	0.3128	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69457	-0.5140	5	0.72032	D	0.01	.	10.9893	0.47541	0.0:0.75:0.0:0.25	.	.	.	.	R	455	.	ENSP00000353336:L455R	L	+	2	0	BCAS3	56507106	0.017000	0.18338	0.998000	0.56505	0.979000	0.70002	-0.969000	0.03813	-0.007000	0.14345	-0.250000	0.11733	CTT	BCAS3	-	pfam_BCAS3	ENSG00000141376		0.398	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1	-	0	116	0	T	NM_017679		59152324	1	tier1	-	no_errors	ENST00000390652	ensembl	human	known	74_37	silent	6.67	84	6	SNP	0.998	G	G	59152324	T	G	59152324	2	3	13	1	0	0	0	0	0	0	0	1	1353	1596	56	4		4	BCAS3	17	59152324	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1807862	59152324	22042886	566	4112											
SMURF2	64750	genome.wustl.edu	37	chr17	62567980	62567980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttgttctgttgttatGgtcaacgaaataaactctgc	9	17	9	6	1	3	0	1	0	2	0	3	1	3	0	0	1	3	4	0	1	5	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:62567980G>T	ENST00000262435.9	-	10	1139	c.952C>A	c.(952-954)Cat>Aat	p.H318N	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	318	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CTGTTGTTATGGTCAACGAAA	0.398																																																	0													126	113	117					17																	62567980		2203	4300	6503	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.952C>A	17.37:g.62567980G>T	ENSP00000262435:p.His318Asn		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.H318N	ENST00000262435.9	37	c.952	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914321	0.52546	.	.	ENSG00000108854	ENST00000262435	D	0.84800	-1.9	5.5	5.5	0.81552	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	H	0.98218	4.175	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97259	0.9903	10	0.87932	D	0	.	19.3935	0.94596	0.0:0.0:1.0:0.0	.	318	Q9HAU4	SMUF2_HUMAN	N	318	ENSP00000262435:H318N	ENSP00000262435:H318N	H	-	1	0	SMURF2	59998442	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.773000	0.98989	2.584000	0.87258	0.585000	0.79938	CAT	SMURF2	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000108854		0.398	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	-	0	49	0	G	NM_022739		62567980	-1	tier1	-	no_errors	ENST00000262435	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	62567980	G	T	62567980	3	4	13	1	0	0	0	0	1	0	0	0	14865	1348	47	3	1334	3	SMURF2	17	62567980	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3415656	62567980	18627230	567	4113											
BPTF	2186	genome.wustl.edu	37	chr17	65907999	65907999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcttggagccgttaaaGtgtgagttggtttctggtga	8	14	15	4	1	2	2	0	2	2	0	2	4	2	3	1	3	1	3	1	3	3	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:65907999G>T	ENST00000321892.4	+	13	4438	c.4377G>T	c.(4375-4377)aaG>aaT	p.K1459N	BPTF_ENST00000306378.6_Missense_Mutation_p.K1333N|BPTF_ENST00000424123.3_Missense_Mutation_p.K1320N|BPTF_ENST00000335221.5_Missense_Mutation_p.K1459N			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1459					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCCGTTAAAGTGTGAGTTGG	0.428																																																	0													70	71	71					17																	65907999		2203	4300	6503	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4377G>T	17.37:g.65907999G>T	ENSP00000315454:p.Lys1459Asn		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K1459N	ENST00000321892.4	37	c.4377		17	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.338493	0.01287	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.65178	-0.12;-0.14;-0.13	5.28	-0.828	0.10799	.	.	.	.	.	T	0.57489	0.2057	L	0.29908	0.895	0.09310	N	1	D;P	0.56746	0.977;0.775	P;B	0.55923	0.787;0.306	T	0.50423	-0.8830	9	0.52906	T	0.07	-4.7046	6.3637	0.21443	0.6043:0.0:0.2889:0.1068	.	1333;1459	Q12830-2;Q12830-4	.;.	N	1333;1459;1459	ENSP00000307208:K1333N;ENSP00000334351:K1459N;ENSP00000315454:K1459N	ENSP00000307208:K1333N	K	+	3	2	BPTF	63338461	0.477000	0.25909	0.000000	0.03702	0.000000	0.00434	1.000000	0.29770	-0.404000	0.07610	-1.159000	0.01794	AAG	BPTF	-	NULL	ENSG00000171634		0.428	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0	84	0	G	NM_182641, NM_004459		65907999	1			no_errors	ENST00000321892	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T	T	65907999	G	T	65907999	3	4	13	1	0	0	0	0	1	0	0	0	1499	1020	36	3	4427	3	BPTF	17	65907999	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3340019	65907999	15287211	568	4114											
ABCA6	23460	genome.wustl.edu	37	chr17	67125826	67125826	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actataatttgggtgaatgtTatgataattgtaacgaatat	15	16	8	2	1	0	2	0	2	0	0	0	3	0	2	0	1	1	2	0	1	8	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:67125826T>C	ENST00000284425.2	-	7	1032	c.858A>G	c.(856-858)atA>atG	p.I286M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	286					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGGTGAATGTTATGATAATTG	0.294																																																	0													82	85	84					17																	67125826		2203	4299	6502	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.858A>G	17.37:g.67125826T>C	ENSP00000284425:p.Ile286Met		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I286M	ENST00000284425.2	37	c.858	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	10.94	1.491866	0.26774	.	.	ENSG00000154262	ENST00000284425	D	0.83914	-1.78	5.6	-2.69	0.06022	.	0.399214	0.21362	N	0.075790	D	0.85741	0.5767	M	0.80422	2.495	0.26320	N	0.977684	D	0.58970	0.984	D	0.66497	0.944	T	0.75442	-0.3316	10	0.51188	T	0.08	.	2.1557	0.03811	0.1323:0.1577:0.4087:0.3013	.	286	Q8N139	ABCA6_HUMAN	M	286	ENSP00000284425:I286M	ENSP00000284425:I286M	I	-	3	3	ABCA6	64637421	0.677000	0.27577	0.010000	0.14722	0.027000	0.11550	-0.006000	0.12833	-0.449000	0.07117	0.528000	0.53228	ATA	ABCA6	-	NULL	ENSG00000154262		0.294	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0	27	0	T	NM_080284		67125826	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.127	C	C	67125826	T	C	67125826	3	2	13	1	0	0	0	0	1	0	0	0	36	1744	61	4	4127	4	ABCA6	17	67125826	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1217827	67125826	14069384	569	4115											
SLC25A19	60386	genome.wustl.edu	37	chr17	73279593	73279593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcagccaggccaccacAtacaaagtgcactgagaatt	15	5	9	12	0	0	1	0	1	0	1	0	2	0	1	3	2	3	2	3	2	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr17:73279593A>G	ENST00000402418.3	-	3	1279	c.370T>C	c.(370-372)Tgt>Cgt	p.C124R	SLC25A19_ENST00000375261.4_Intron|SLC25A19_ENST00000442286.2_Missense_Mutation_p.C124R|SLC25A19_ENST00000580994.1_Missense_Mutation_p.C124R|SLC25A19_ENST00000320362.3_Missense_Mutation_p.C124R|SLC25A19_ENST00000416858.2_Missense_Mutation_p.C124R			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	124					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGGCCACCACATACAAAGTGC	0.567																																																	0													54	43	47					17																	73279593		2203	4300	6503	SO:0001583	missense	0				CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"Solute carriers"	14409	protein-coding gene	gene with protein product		606521	"solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19", "microcephaly, Amish"	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.370T>C	17.37:g.73279593A>G	ENSP00000385312:p.Cys124Arg		E9PF74|Q6V9R7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.C124R	ENST00000402418.3	37	c.370	CCDS11720.1	17	.	.	.	.	.	.	.	.	.	.	A	7.219	0.597033	0.13875	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.02	5.02	0.67125	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91402	0.5144	10	0.72032	D	0.01	-18.2864	14.4121	0.67121	1.0:0.0:0.0:0.0	.	124	Q9HC21	TPC_HUMAN	R	124	ENSP00000397818:C124R;ENSP00000402202:C124R;ENSP00000319574:C124R;ENSP00000385312:C124R	ENSP00000319574:C124R	C	-	1	0	SLC25A19	70791188	1.000000	0.71417	0.057000	0.19452	0.002000	0.02628	8.903000	0.92573	1.877000	0.54381	0.448000	0.29417	TGT	SLC25A19	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000125454		0.567	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A19	HGNC	protein_coding	OTTHUMT00000447282.1	-	0	105	0	A	NM_021734		73279593	-1	tier1	-	no_errors	ENST00000320362	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G	G	73279593	A	G	73279593	3	3	13	1	0	0	0	0	1	0	0	0	14526	217	8	4	608	4	SLC25A19	17	73279593	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	6153767	73279593	7915617	570	4116											
DLGAP1	9229	genome.wustl.edu	37	chr18	3534291	3534291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcttcaggaaccagtGgccatcccggtggcacactg	10	6	13	12	1	1	1	1	0	0	1	2	3	2	2	3	4	2	2	3	4	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:3534291G>T	ENST00000315677.3	-	10	2975	c.2380C>A	c.(2380-2382)Cac>Aac	p.H794N	DLGAP1_ENST00000400147.2_Missense_Mutation_p.H492N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.H794N|DLGAP1_ENST00000400149.3_Missense_Mutation_p.H484N|DLGAP1_ENST00000581699.1_Missense_Mutation_p.H500N|DLGAP1_ENST00000400145.2_Missense_Mutation_p.H492N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.H794N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.H794N|DLGAP1_ENST00000400155.1_Missense_Mutation_p.H500N|DLGAP1_ENST00000534970.1_Missense_Mutation_p.H478N|DLGAP1_ENST00000539435.1_Missense_Mutation_p.H502N|DLGAP1_ENST00000400150.3_Missense_Mutation_p.H510N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	794					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGAACCAGTGGCCATCCCGG	0.582																																																	0													91	81	84					18																	3534291		2203	4300	6503	SO:0001583	missense	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2380C>A	18.37:g.3534291G>T	ENSP00000316377:p.His794Asn		A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.H794N	ENST00000315677.3	37	c.2380	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927410	0.52759	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	5.93	5.93	0.95920	.	0.049350	0.85682	D	0.000000	T	0.19565	0.0470	N	0.19112	0.55	0.53688	D	0.999974	P;B;B;P;B;P;B;B	0.43231	0.801;0.425;0.037;0.801;0.037;0.763;0.037;0.013	B;B;B;P;B;B;B;B	0.46419	0.315;0.315;0.06;0.516;0.06;0.21;0.038;0.022	T	0.00945	-1.1505	10	0.38643	T	0.18	-34.0766	20.3311	0.98718	0.0:0.0:1.0:0.0	.	794;478;490;500;502;492;794;492	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	N	794;492;510;484;500;478;502;492;794	ENSP00000316377:H794N;ENSP00000383011:H492N;ENSP00000383014:H510N;ENSP00000383013:H484N;ENSP00000383019:H500N;ENSP00000437817:H478N;ENSP00000446312:H502N;ENSP00000383010:H492N;ENSP00000445973:H794N	ENSP00000316377:H794N	H	-	1	0	DLGAP1	3524291	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.863000	0.87023	2.797000	0.96272	0.655000	0.94253	CAC	DLGAP1	-	pfam_GKAP	ENSG00000170579		0.582	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	-	0	42	0	G			3534291	-1	tier1	-	no_errors	ENST00000315677	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	3534291	G	T	3534291	3	4	13	1	0	0	0	0	1	0	0	0	4573	1348	47	3	569	3	DLGAP1	18	3534291	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		3534291	74542957	571	4117											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6171845	6171845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgctgtggcacttccagtgGatgccctgtgacatcacacc	8	9	10	14	1	1	1	1	1	0	0	2	2	2	2	3	2	1	2	3	2	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6171845G>A	ENST00000284898.6	-	13	1278	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S	L3MBTL4_ENST00000400104.3_Missense_Mutation_p.P360S|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P360S|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.P173S|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P360S	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	360					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACTTCCAGTGGATGCCCTGTG	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													104	73	84					18																	6171845		2195	4280	6475	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1078C>T	18.37:g.6171845G>A	ENSP00000284898:p.Pro360Ser		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.P360S	ENST00000284898.6	37	c.1078	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057877	0.55325	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.71	5.71	0.89125	.	0.074340	0.53938	D	0.000050	T	0.66896	0.2836	M	0.65975	2.015	0.46458	D	0.999058	D;D	0.89917	0.987;1.0	P;D	0.79108	0.536;0.992	T	0.67952	-0.5537	10	0.62326	D	0.03	.	15.3451	0.74330	0.0:0.0:1.0:0.0	.	360;360	Q8NA19;F8W9S8	LMBL4_HUMAN;.	S	360;360;360;173;360	ENSP00000382976:P360S;ENSP00000318543:P360S;ENSP00000284898:P360S;ENSP00000444774:P173S;ENSP00000382975:P360S	ENSP00000284898:P360S	P	-	1	0	L3MBTL4	6161845	1.000000	0.71417	0.918000	0.36340	0.074000	0.17049	3.585000	0.53943	2.698000	0.92095	0.650000	0.86243	CCA	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	60	0	G	NM_173464		6171845	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	A	A	6171845	G	A	6171845	3	1	13	1	0	0	0	0	1	0	0	0	8622	1174	41	3	825	3	L3MBTL4	18	6171845	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2637554	6171845	71905403	572	4118											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6882152	6882152	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcaataccgtgaagaacTtgatgccaagtttaatgctg	14	10	9	8	1	0	3	0	2	0	1	0	3	0	3	2	0	5	3	2	0	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6882152T>G	ENST00000383472.4	+	11	1411	c.1307T>G	c.(1306-1308)cTt>cGt	p.L436R	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.L384R|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.L277R|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.L259R|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.L277R|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.L272R|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.L277R|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.L436R			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	436	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.L436P(1)|p.L277P(1)|p.L436R(1)|p.L277R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGTGAAGAACTTGATGCCAAG	0.378																																																	4	Substitution - Missense(4)	large_intestine(4)											151	146	148					18																	6882152		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1307T>G	18.37:g.6882152T>G	ENSP00000372964:p.Leu436Arg		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L436R	ENST00000383472.4	37	c.1307		18	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127366	0.77549	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.151215	0.44285	D	0.000463	T	0.60702	0.2289	M	0.91612	3.225	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.997	T	0.70718	-0.4795	10	0.87932	D	0	.	15.9369	0.79717	0.0:0.0:0.0:1.0	.	436;268;277;384	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	R	436;384;277;272;277;277;268;259	ENSP00000382963:L436R;ENSP00000262227:L384R;ENSP00000392660:L277R;ENSP00000437262:L272R;ENSP00000313506:L277R;ENSP00000406907:L277R	ENSP00000262227:L384R	L	+	2	0	ARHGAP28	6872152	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.655000	0.74392	2.172000	0.68678	0.533000	0.62120	CTT	ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.378	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	115	0	T	XM_371108		6882152	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	36.47	54	31	SNP	1.000	G	G	6882152	T	G	6882152	3	3	13	1	0	0	0	0	1	0	0	0	877	1609	56	4	864	4	ARHGAP28	18	6882152	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	710307	6882152	71195096	573	4119											
LAMA1	284217	genome.wustl.edu	37	chr18	6985297	6985297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctctgtagaccaGgtcgactgcgttcctttggg	5	12	12	12	2	2	1	1	0	1	1	5	2	4	1	3	2	2	3	3	2	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:6985297G>C	ENST00000389658.3	-	39	5692	c.5599C>G	c.(5599-5601)Ctg>Gtg	p.L1867V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1867	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTGTAGACCAGGTCGACTGCG	0.502																																																	0													204	167	180					18																	6985297		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5599C>G	18.37:g.6985297G>C	ENSP00000374309:p.Leu1867Val			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L1867V	ENST00000389658.3	37	c.5599	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	8.576	0.881268	0.17467	.	.	ENSG00000101680	ENST00000389658	T	0.21543	2.0	5.58	5.58	0.84498	.	0.356310	0.26859	N	0.022134	T	0.24470	0.0593	M	0.66939	2.045	0.34641	D	0.720634	B	0.25850	0.136	B	0.19391	0.025	T	0.21586	-1.0241	10	0.44086	T	0.13	.	13.0585	0.58994	0.0765:0.0:0.9235:0.0	.	1867	P25391	LAMA1_HUMAN	V	1867	ENSP00000374309:L1867V	ENSP00000374309:L1867V	L	-	1	2	LAMA1	6975297	1.000000	0.71417	0.876000	0.34364	0.111000	0.19643	3.961000	0.56759	2.631000	0.89168	0.655000	0.94253	CTG	LAMA1	-	NULL	ENSG00000101680		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	51	0	G	NM_005559		6985297	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.906	C	C	6985297	G	C	6985297	3	2	13	1	0	0	0	0	1	0	0	0	8633	991	35	5	3728	5	LAMA1	18	6985297	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	103145	6985297	71091951	574	4120											
LAMA1	284217	genome.wustl.edu	37	chr18	7037696	7037696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtgcatcttgctgagacgGgatcttcctgggactgatca	8	12	12	9	1	3	2	1	2	2	1	4	5	4	4	1	2	2	2	1	2	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:7037696G>T	ENST00000389658.3	-	12	1711	c.1618C>A	c.(1618-1620)Ccg>Acg	p.P540T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	540	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGCTGAGACGGGATCTTCCTG	0.507																																																	0													98	82	88					18																	7037696		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1618C>A	18.37:g.7037696G>T	ENSP00000374309:p.Pro540Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P540T	ENST00000389658.3	37	c.1618	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	0.937	-0.710841	0.03230	.	.	ENSG00000101680	ENST00000389658	T	0.17691	2.26	5.43	3.59	0.41128	Laminin B type IV (1);	1.280750	0.05256	N	0.514994	T	0.13628	0.0330	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.37267	-0.9713	10	0.22109	T	0.4	.	11.47	0.50264	0.0:0.2547:0.6133:0.132	.	540	P25391	LAMA1_HUMAN	T	540	ENSP00000374309:P540T	ENSP00000374309:P540T	P	-	1	0	LAMA1	7027696	0.165000	0.22948	0.020000	0.16555	0.002000	0.02628	0.889000	0.28282	0.620000	0.30215	-0.304000	0.09214	CCG	LAMA1	-	pfscan_Laminin_B_type_IV	ENSG00000101680		0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	34	0	G	NM_005559		7037696	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.029	T	T	7037696	G	T	7037696	3	4	13	1	0	0	0	0	1	0	0	0	8633	1232	43	3	7817	3	LAMA1	18	7037696	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	52399	7037696	71039552	575	4121											
LRRC30	339291	genome.wustl.edu	37	chr18	7231776	7231776	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctggccagcctgcagatcTtcatcgcagagggcaacaac	11	6	10	14	1	2	2	1	0	1	2	3	2	2	2	3	2	4	3	3	2	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:7231776T>A	ENST00000383467.2	+	1	654	c.640T>A	c.(640-642)Ttc>Atc	p.F214I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	214										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCAGATCTTCATCGCAGA	0.552																																																	0													64	69	67					18																	7231776		2135	4251	6386	SO:0001583	missense	0				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.640T>A	18.37:g.7231776T>A	ENSP00000372959:p.Phe214Ile			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F214I	ENST00000383467.2	37	c.640	CCDS42409.1	18	.	.	.	.	.	.	.	.	.	.	T	15.33	2.802881	0.50315	.	.	ENSG00000206422	ENST00000383467	T	0.22336	1.96	5.95	4.8	0.61643	.	0.108661	0.64402	D	0.000003	T	0.15652	0.0377	L	0.31294	0.92	0.37894	D	0.930802	B	0.17465	0.022	B	0.13407	0.009	T	0.05784	-1.0864	10	0.59425	D	0.04	.	8.9515	0.35792	0.0:0.1411:0.0:0.8589	.	214	A6NM36	LRC30_HUMAN	I	214	ENSP00000372959:F214I	ENSP00000372959:F214I	F	+	1	0	LRRC30	7221776	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	3.732000	0.55021	1.086000	0.41228	0.528000	0.53228	TTC	LRRC30	-	NULL	ENSG00000206422		0.552	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	HGNC	protein_coding	OTTHUMT00000442140.1	-	0	54	0	T	XM_292678		7231776	1	tier1	-	no_errors	ENST00000383467	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A	A	7231776	T	A	7231776	3	1	13	1	0	0	0	0	1	0	0	0	9020	1609	56	5	642	5	LRRC30	18	7231776	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	194080	7231776	70845472	576	4122											
FAM38B	63895	genome.wustl.edu	37	chr18	10770275	10770275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaagagcacagtgaggcgGtcaatcaccaggtgccattt	13	7	12	9	1	2	3	2	1	0	2	2	3	2	3	2	3	2	1	2	3	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:10770275G>T	ENST00000503781.3	-	19	2741	c.2742C>A	c.(2740-2742)gaC>gaA	p.D914E	PIEZO2_ENST00000302079.6_Missense_Mutation_p.D914E|PIEZO2_ENST00000580640.1_Missense_Mutation_p.D939E|PIEZO2_ENST00000383408.2_Missense_Mutation_p.D202E	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	914					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CAGTGAGGCGGTCAATCACCA	0.373																																																	0													106	97	100					18																	10770275		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2742C>A	18.37:g.10770275G>T	ENSP00000421377:p.Asp914Glu		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.D928E	ENST00000503781.3	37	c.2784		18	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016561	0.35606	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.38401	3.55;1.14	5.87	4.07	0.47477	.	0.000000	0.52532	U	0.000061	T	0.26484	0.0647	L	0.42529	1.33	0.80722	D	1	P	0.36683	0.565	B	0.33690	0.168	T	0.04065	-1.0980	10	0.19590	T	0.45	.	10.0365	0.42131	0.2065:0.0:0.7935:0.0	.	939	Q9H5I5-4	.	E	914;202	ENSP00000303316:D914E;ENSP00000372900:D202E	ENSP00000303316:D914E	D	-	3	2	FAM38B	10760275	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.819000	0.48049	1.505000	0.48720	0.644000	0.83932	GAC	PIEZO2	-	NULL	ENSG00000154864		0.373	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	104	0	G	NM_022068		10770275	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	T	T	10770275	G	T	10770275	3	4	13	1	0	0	0	0	1	0	0	0	5577	1252	44	3	5652	3	FAM38B	18	10770275	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3538499	10770275	67306973	577	4123											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14760618	14760618	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcaaaataccaatccagGtaagacttcggatagcaaac	16	8	6	11	1	1	1	1	0	0	1	4	2	3	2	3	2	3	2	3	2	7	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:14760618G>T	ENST00000358984.4	+	6	1000		c.e6+1		ANKRD30B_ENST00000579292.1_Intron|RNU6-1210P_ENST00000363775.1_RNA|ANKRD30B_ENST00000447268.2_Splice_Site	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B											breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCAATCCAGGTAAGACTTCG	0.308																																																	0													74	58	63					18																	14760618		692	1590	2282	SO:0001630	splice_region_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.820+1G>T	18.37:g.14760618G>T			B4DGP1|F8WAG3|Q4G175	Splice_Site	SNP	-	e6+1	ENST00000358984.4	37	c.820+1	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	5.424	0.263293	0.10294	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	.	.	.	.	.	.	0.29982	N	0.817606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7399	0.23431	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30B	14750618	0.999000	0.42202	0.170000	0.22879	0.023000	0.10783	2.604000	0.46274	1.228000	0.43614	0.306000	0.20318	.	ANKRD30B	-	-	ENSG00000180777		0.308	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	81	0	G	NM_001145029	Intron	14760618	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	splice_site	6.67	56	4	SNP	0.205	T	T	14760618	G	T	14760618	5	4	13	1	0	0	0	0	0	0	1	0	659	1275	44	3	843	3	ANKRD30B	18	14760618	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3990343	14760618	63316630	578	4124											
SLC39A6	25800	genome.wustl.edu	37	chr18	33692509	33692509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacacagcaacagaagtacTtaaaccacttgataagcctt	17	8	6	10	0	0	2	0	1	0	1	0	3	0	2	2	0	6	2	2	0	7	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:33692509T>C	ENST00000590986.1	-	8	2168	c.1879A>G	c.(1879-1881)Agt>Ggt	p.S627G	SLC39A6_ENST00000440549.2_Missense_Mutation_p.S352G|SLC39A6_ENST00000269187.5_Missense_Mutation_p.S627G			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	627					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						ACAGAAGTACTTAAACCACTT	0.348																																																	0													166	156	159					18																	33692509		1881	4103	5984	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.1879A>G	18.37:g.33692509T>C	ENSP00000465915:p.Ser627Gly		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.S627G	ENST00000590986.1	37	c.1879	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758749	0.89843	.	.	ENSG00000141424	ENST00000269187;ENST00000543723;ENST00000440549	T;T	0.51574	0.7;0.7	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.987	T	0.62096	-0.6926	10	0.62326	D	0.03	-19.135	14.5226	0.67863	0.0:0.0:0.0:1.0	.	627;352	Q13433;Q13433-2	S39A6_HUMAN;.	G	627;352;352	ENSP00000269187:S627G;ENSP00000401139:S352G	ENSP00000269187:S627G	S	-	1	0	SLC39A6	31946507	1.000000	0.71417	0.968000	0.41197	0.964000	0.63967	7.728000	0.84847	2.371000	0.80710	0.533000	0.62120	AGT	SLC39A6	-	pfam_ZIP	ENSG00000141424		0.348	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1		0	53	0	T			33692509	-1			no_errors	ENST00000269187	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	C	C	33692509	T	C	33692509	3	2	13	1	0	0	0	0	1	0	0	0	14667	1609	56	4	412	4	SLC39A6	18	33692509	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	18931891	33692509	44384739	579	4125											
KATNAL2	83473	genome.wustl.edu	37	chr18	44585961	44585961	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcgcctggaaagtgccaActtcggcctacatatatcaa	12	9	7	13	2	1	0	1	0	0	0	3	1	1	1	3	2	3	0	3	2	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:44585961A>C	ENST00000245121.5	+	5	463	c.269A>C	c.(268-270)aAc>aCc	p.N90T	KATNAL2_ENST00000356157.7_Missense_Mutation_p.N162T|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GAAAGTGCCAACTTCGGCCTA	0.478																																																	0													164	159	161					18																	44585961		2203	4300	6503	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.269A>C	18.37:g.44585961A>C	ENSP00000245121:p.Asn90Thr			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N90T	ENST00000245121.5	37	c.269	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	A	10.99	1.507612	0.27036	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93307	-3.2;-3.19	5.69	5.69	0.88448	.	0.275088	0.41097	D	0.000956	D	0.86410	0.5926	N	0.14661	0.345	0.27057	N	0.963636	B	0.13594	0.008	B	0.17098	0.017	T	0.76168	-0.3058	10	0.32370	T	0.25	-7.8142	12.3456	0.55119	1.0:0.0:0.0:0.0	.	162	Q8IYT4	KATL2_HUMAN	T	162;90	ENSP00000348478:N162T;ENSP00000245121:N90T	ENSP00000245121:N90T	N	+	2	0	KATNAL2	42839959	0.999000	0.42202	0.946000	0.38457	0.003000	0.03518	4.614000	0.61183	2.163000	0.67991	0.533000	0.62120	AAC	KATNAL2	-	NULL	ENSG00000167216		0.478	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	-	0	100	0	A	NM_031303		44585961	1	tier1	-	no_errors	ENST00000245121	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.987	C	C	44585961	A	C	44585961	3	2	13	1	0	0	0	0	1	0	0	0	8013	43	2	4	283	4	KATNAL2	18	44585961	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	10893452	44585961	33491287	580	4126											
SMAD4	4089	genome.wustl.edu	37	chr18	48591805	48591805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctatagctcctgagtattGgtgttccattgcttactttg	6	18	8	9	0	0	1	0	1	0	0	3	1	3	1	3	1	3	4	3	1	4	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:48591805G>T	ENST00000342988.3	+	9	1506	c.968G>T	c.(967-969)tGg>tTg	p.W323L	SMAD4_ENST00000398417.2_Missense_Mutation_p.W323L|SMAD4_ENST00000588745.1_Missense_Mutation_p.W227L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	323	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.W323fs*11(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCTGAGTATTGGTGTTCCATT	0.408																																																	39	Whole gene deletion(36)|Unknown(2)|Deletion - Frameshift(1)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|small_intestine(1)|oesophagus(1)											244	211	222					18																	48591805		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.968G>T	18.37:g.48591805G>T	ENSP00000341551:p.Trp323Leu		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.W323L	ENST00000342988.3	37	c.968	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	32	5.155142	0.94686	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.99879	-7.44;-7.44	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99923	0.9964	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96499	0.9370	10	0.87932	D	0	.	19.2492	0.93917	0.0:0.0:1.0:0.0	.	323	Q13485	SMAD4_HUMAN	L	323	ENSP00000341551:W323L;ENSP00000381452:W323L	ENSP00000341551:W323L	W	+	2	0	SMAD4	46845803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.676000	0.98643	2.840000	0.97914	0.655000	0.94253	TGG	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.408	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0	68	0	G	NM_005359		48591805	1			no_errors	ENST00000342988	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	48591805	G	T	48591805	3	4	13	1	0	0	0	0	1	0	0	0	14805	1357	47	3	998	3	SMAD4	18	48591805	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4005844	48591805	29485443	581	4127											
DCC	1630	genome.wustl.edu	37	chr18	51025732	51025732	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctcagcctgagcattcTagcagcgaggaggcaccaag	11	6	11	13	1	2	1	1	1	2	0	3	3	2	2	3	2	4	3	3	2	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:51025732T>A	ENST00000442544.2	+	27	4579	c.3963T>A	c.(3961-3963)tcT>tcA	p.S1321S	DCC_ENST00000581580.1_Silent_p.S954S|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1321					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGAGCATTCTAGCAGCGAGG	0.517																																																	0													194	155	168					18																	51025732		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3963T>A	18.37:g.51025732T>A				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1321	ENST00000442544.2	37	c.3963	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C	ENSG00000187323		0.517	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	107	0	T	NM_005215		51025732	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.993	A	A	51025732	T	A	51025732	2	1	13	1	0	0	0	0	0	0	0	1	4291	1509	53	5		5	DCC	18	51025732	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2433927	51025732	27051516	582	4128											
FBXO15	201456	genome.wustl.edu	37	chr18	71740727	71740727	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccaaaccaatggttgattTttgcgatactaagataaagg	14	12	8	7	1	0	2	0	1	0	1	1	3	1	2	2	2	3	1	2	2	6	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:71740727T>A	ENST00000419743.2	-	10	1581	c.1502A>T	c.(1501-1503)aAa>aTa	p.K501I	FBXO15_ENST00000269500.5_Missense_Mutation_p.K425I|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	501						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATGGTTGATTTTTGCGATACT	0.398																																																	0													163	161	162					18																	71740727		2203	4300	6503	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1502A>T	18.37:g.71740727T>A	ENSP00000393154:p.Lys501Ile		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.K501I	ENST00000419743.2	37	c.1502	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	t	15.65	2.897066	0.52121	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.52754	0.65;0.65	5.9	4.75	0.60458	.	0.043469	0.85682	D	0.000000	T	0.65873	0.2733	M	0.70275	2.135	0.48236	D	0.99961	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.68530	-0.5384	10	0.87932	D	0	-15.7255	11.6932	0.51527	0.0:0.0686:0.0:0.9314	.	501;425	B3KST3;Q8NCQ5	.;FBX15_HUMAN	I	425;501	ENSP00000269500:K425I;ENSP00000393154:K501I	ENSP00000269500:K425I	K	-	2	0	FBXO15	69891707	1.000000	0.71417	0.022000	0.16811	0.218000	0.24690	4.156000	0.58138	1.077000	0.40990	0.529000	0.55759	AAA	FBXO15	-	NULL	ENSG00000141665		0.398	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	-	0	63	0	T	NM_152676		71740727	-1	tier1	-	no_errors	ENST00000419743	ensembl	human	known	74_37	missense	54.55	20	24	SNP	0.873	A	A	71740727	T	A	71740727	3	1	13	1	0	0	0	0	1	0	0	0	5750	1841	64	5	34	5	FBXO15	18	71740727	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	20714995	71740727	6336521	583	4129											
CNDP2	55748	genome.wustl.edu	37	chr18	72178185	72178185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcatttctgacaattactgGctgggaaagaagaagccctg	12	10	11	8	0	1	3	0	1	1	2	1	4	1	4	1	2	3	2	1	2	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr18:72178185G>T	ENST00000324262.4	+	6	910	c.594G>T	c.(592-594)tgG>tgT	p.W198C	CNDP2_ENST00000579847.1_Missense_Mutation_p.W198C|CNDP2_ENST00000324301.8_Missense_Mutation_p.W114C	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	198					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		ACAATTACTGGCTGGGAAAGA	0.493																																																	0													129	110	117					18																	72178185		2203	4300	6503	SO:0001583	missense	0			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.594G>T	18.37:g.72178185G>T	ENSP00000325548:p.Trp198Cys		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.W198C	ENST00000324262.4	37	c.594	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	G	6.643	0.487103	0.12641	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.51574	0.7;0.7	6.17	4.41	0.53225	.	0.051795	0.85682	D	0.000000	T	0.77505	0.4140	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.83784	0.0227	10	0.87932	D	0	-13.5629	13.0755	0.59085	0.1289:0.0:0.8711:0.0	.	103;114;198	B4DPF1;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	C	198;114	ENSP00000325548:W198C;ENSP00000325756:W114C	ENSP00000325548:W198C	W	+	3	0	CNDP2	70329165	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	9.756000	0.98918	0.954000	0.37851	-0.140000	0.14226	TGG	CNDP2	-	pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.493	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	-	0	86	0	G	NM_018235		72178185	1	tier1	-	no_errors	ENST00000324262	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	72178185	G	T	72178185	3	4	13	1	0	0	0	0	1	0	0	0	3601	1212	42	3	612	3	CNDP2	18	72178185	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	437458	72178185	5899063	584	4130											
MIER2	54531	genome.wustl.edu	37	chr19	308609	308609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagggtgtcttgctccGggcgcggacggccggggcca	4	6	18	13	5	2	0	1	0	1	0	3	1	3	1	3	6	1	1	3	6	0	1	rs375980005		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:308609G>A	ENST00000264819.4	-	12	1176	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTGCTCCGGGCGCGGACG	0.711																																																	0								G	LEU/PRO	0,4400		0,0,2200	17	25	22		1166	2.2	0	19		22	1,8585		0,1,4292	no	missense	MIER2	NM_017550.1	98	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	389/546	308609	1,12985	2200	4293	6493	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1166C>T	19.37:g.308609G>A	ENSP00000264819:p.Pro389Leu		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.P389L	ENST00000264819.4	37	c.1166	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593417	0.28357	0.0	1.16E-4	ENSG00000105556	ENST00000264819	T	0.15256	2.44	2.22	2.22	0.28083	.	2.486670	0.02842	U	0.128060	T	0.10937	0.0267	N	0.08118	0	0.09310	N	1	B	0.24368	0.102	B	0.20184	0.028	T	0.18053	-1.0349	10	0.56958	D	0.05	.	8.0133	0.30365	0.0:0.0:1.0:0.0	.	389	Q8N344	MIER2_HUMAN	L	389	ENSP00000264819:P389L	ENSP00000264819:P389L	P	-	2	0	MIER2	259609	0.014000	0.17966	0.010000	0.14722	0.214000	0.24535	1.286000	0.33273	1.541000	0.49316	0.462000	0.41574	CCG	MIER2	-	NULL	ENSG00000105556		0.711	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	-	0	130	0	G	XM_041843		308609	-1	tier1	-	no_errors	ENST00000264819	ensembl	human	known	74_37	missense	5.75	82	5	SNP	0.020	A	A	308609	G	A	308609	3	1	13	1	0	0	0	0	1	0	0	0	9619	1116	39	1	483	1	MIER2	19	308609	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		308609	58820374	585	4131											
OR2Z1	284383	genome.wustl.edu	37	chr19	8841919	8841919	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcccgtattgtggatcacTtcttctgtgaggtgccagcc	5	13	10	13	1	3	1	1	1	2	0	4	2	4	2	4	2	2	1	4	2	1	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:8841919T>G	ENST00000324060.2	+	1	604	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTGGATCACTTCTTCTGTGA	0.572																																																	0													180	166	171					19																	8841919		2203	4300	6503	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"GPCR / Class A : Olfactory receptors"	15391	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily Z, member 2"	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.529T>G	19.37:g.8841919T>G	ENSP00000316284:p.Phe177Val		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177V	ENST00000324060.2	37	c.529	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213726	0.39102	.	.	ENSG00000181733	ENST00000324060	T	0.00350	7.98	4.67	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00906	0.0030	M	0.90145	3.09	0.23232	N	0.99808	D	0.89917	1.0	D	0.87578	0.998	T	0.26430	-1.0103	10	0.87932	D	0	.	8.8022	0.34916	0.0:0.0918:0.0:0.9082	.	177	Q8NG97	OR2Z1_HUMAN	V	177	ENSP00000316284:F177V	ENSP00000316284:F177V	F	+	1	0	OR2Z1	8702919	0.974000	0.33945	1.000000	0.80357	0.313000	0.28021	0.770000	0.26618	0.773000	0.33404	0.444000	0.29173	TTC	OR2Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181733		0.572	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	-	0	35	0	T			8841919	1	tier1	-	no_errors	ENST00000324060	ensembl	human	known	74_37	missense	53.57	13	15	SNP	0.996	G	G	8841919	T	G	8841919	3	3	13	1	0	0	0	0	1	0	0	0	11075	1609	56	4	531	4	OR2Z1	19	8841919	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	8533310	8841919	50287064	586	4132											
MUC16	94025	genome.wustl.edu	37	chr19	9046663	9046663	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgaggctgtggtctcTggttcaccaggagaaggagt	8	10	16	7	0	2	3	1	2	1	1	3	5	2	4	1	5	0	3	1	5	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9046663T>C	ENST00000397910.4	-	5	35171	c.34968A>G	c.(34966-34968)ccA>ccG	p.P11656P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11658	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTCTCTGGTTCACCAG	0.512																																																	0													140	137	138					19																	9046663		2072	4216	6288	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34968A>G	19.37:g.9046663T>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P11656	ENST00000397910.4	37	c.34968	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	204	0	T	NM_024690		9046663	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.011	C	C	9046663	T	C	9046663	2	2	13	1	0	0	0	0	0	0	0	1	10011	1567	55	4		4	MUC16	19	9046663	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	204744	9046663	50082320	587	4133											
MUC16	94025	genome.wustl.edu	37	chr19	9073947	9073947	+	Frame_Shift_Del	DEL	C	C	-																															aattggtcacaggttccatgCttgtgttcaacatatctgtg																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9073947delC	ENST00000397910.4	-	3	13702	c.13499delG	c.(13498-13500)agcfs	p.S4500fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4502	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTTCCATGCTTGTGTTCAA	0.448																																																	0													136	127	130					19																	9073947		1972	4161	6133	SO:0001589	frameshift_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13499delG	19.37:g.9073947delC	ENSP00000381008:p.Ser4500fs		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S4500fs	ENST00000397910.4	37	c.13499	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	52	0	C	NM_024690		9073947	-1	tier1		no_errors	ENST00000397910	ensembl	human	known	74_37	frame_shift_del	13.73	44	7	DEL	0.024	-	-	9073947	C	-	9073947	7	5	13	1	0	1	0	1	0	0	0	0	10011	797	28	0	30352	0	MUC16	19	9073947	Frame_Shift_Del	DEL	C	TCGA-IC-A6RE-01A-11D-A33E-09	27284	9073947	50055036	588	4134											
MUC16	94025	genome.wustl.edu	37	chr19	9075129	9075129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatccaaagtaggtgcaCttagtgatgtagcgccaggt	11	11	12	7	1	0	1	0	1	0	0	1	1	1	1	2	2	2	4	2	2	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9075129C>G	ENST00000397910.4	-	3	12520	c.12317G>C	c.(12316-12318)aGt>aCt	p.S4106T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4108	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTAGGTGCACTTAGTGATGT	0.493																																																	0													121	117	118					19																	9075129		2109	4225	6334	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12317G>C	19.37:g.9075129C>G	ENSP00000381008:p.Ser4106Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S4106T	ENST00000397910.4	37	c.12317	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	8.655	0.899284	0.17686	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	2.09	1.05	0.20165	.	.	.	.	.	T	0.02688	0.0081	L	0.29908	0.895	.	.	.	D	0.56968	0.978	B	0.44224	0.444	T	0.42999	-0.9418	8	0.87932	D	0	.	4.5286	0.11994	0.0:0.8079:0.0:0.1921	.	4106	B5ME49	.	T	4106	ENSP00000381008:S4106T	ENSP00000381008:S4106T	S	-	2	0	MUC16	8936129	0.000000	0.05858	0.000000	0.03702	0.668000	0.39293	-1.635000	0.02018	0.452000	0.26830	0.313000	0.20887	AGT	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	35	0	C	NM_024690		9075129	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.000	G	G	9075129	C	G	9075129	3	3	13	1	0	0	0	0	1	0	0	0	10011	565	20	5	31534	5	MUC16	19	9075129	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1182	9075129	50053854	589	4135											
MUC16	94025	genome.wustl.edu	37	chr19	9083064	9083064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgcatctgagtctggAatggtgttcagggactgtcc	6	13	14	8	0	3	1	1	1	2	0	4	3	4	3	1	3	2	3	1	3	1	2	rs376210567		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9083064A>C	ENST00000397910.4	-	1	8954	c.8751T>G	c.(8749-8751)atT>atG	p.I2917M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2918	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGTCTGGAATGGTGTTCA	0.473																																																	0													95	85	88					19																	9083064		1921	4137	6058	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8751T>G	19.37:g.9083064A>C	ENSP00000381008:p.Ile2917Met		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I2917M	ENST00000397910.4	37	c.8751	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	4.462	0.085511	0.08583	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.773	-0.421	0.12332	.	.	.	.	.	T	0.01976	0.0062	N	0.08118	0	.	.	.	D	0.58268	0.982	P	0.47603	0.551	T	0.45293	-0.9271	8	0.87932	D	0	.	2.8508	0.05556	0.6373:0.0:0.3627:0.0	.	2917	B5ME49	.	M	2917	ENSP00000381008:I2917M	ENSP00000381008:I2917M	I	-	3	3	MUC16	8944064	0.008000	0.16893	0.003000	0.11579	0.544000	0.35116	-0.280000	0.08468	-0.231000	0.09825	0.260000	0.18958	ATT	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	58	0	A	NM_024690		9083064	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.004	C	C	9083064	A	C	9083064	3	2	13	1	0	0	0	0	1	0	0	0	10011	242	9	4	35108	4	MUC16	19	9083064	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	7935	9083064	50045919	590	4136											
MUC16	94025	genome.wustl.edu	37	chr19	9089101	9089101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactgagctgaacgtgtaGgccaggtgtccatggtgggg	9	8	17	7	1	0	3	0	2	0	1	1	3	1	3	2	5	3	2	2	5	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:9089101G>T	ENST00000397910.4	-	1	2917	c.2714C>A	c.(2713-2715)cCt>cAt	p.P905H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	905	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P905H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAACGTGTAGGCCAGGTGTC	0.517																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											91	93	92					19																	9089101		1992	4180	6172	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2714C>A	19.37:g.9089101G>T	ENSP00000381008:p.Pro905His		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P905H	ENST00000397910.4	37	c.2714	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.712	-0.498754	0.04291	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	1.22	-0.00312	0.14027	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	P	0.36438	0.553	B	0.25987	0.065	T	0.43718	-0.9374	8	0.87932	D	0	.	4.9935	0.14226	0.0:0.3873:0.6126:0.0	.	905	B5ME49	.	H	905	ENSP00000381008:P905H	ENSP00000381008:P905H	P	-	2	0	MUC16	8950101	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-0.966000	0.03825	0.057000	0.16193	0.205000	0.17691	CCT	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	72	0	G	NM_024690		9089101	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	T	T	9089101	G	T	9089101	3	4	13	1	0	0	0	0	1	0	0	0	10011	1000	35	3	41145	3	MUC16	19	9089101	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6037	9089101	50039882	591	4137											
SMARCA4	6597	genome.wustl.edu	37	chr19	11144051	11144051	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccgtcaacagcgtggAggagaagatcctagctgcag	11	6	13	11	2	1	2	1	0	0	2	2	4	2	3	2	2	5	3	2	2	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:11144051A>C	ENST00000429416.3	+	27	3913	c.3632A>C	c.(3631-3633)gAg>gCg	p.E1211A	SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1211A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1211A|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E1211A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1211A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1211A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1211A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1211	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACAGCGTGGAGGAGAAGATC	0.632			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											108	105	106					19																	11144051		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3632A>C	19.37:g.11144051A>C	ENSP00000395654:p.Glu1211Ala		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.E1211A	ENST00000429416.3	37	c.3632	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188339	0.78789	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	4.74	4.74	0.60224	Helicase, C-terminal (1);	0.127308	0.51477	D	0.000084	D	0.95912	0.8669	H	0.99634	4.67	0.58432	D	0.999997	D;D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.758	D;D;D;D;D;D;P	0.87578	0.994;0.994;0.994;0.994;0.97;0.998;0.786	D	0.97352	0.9964	10	0.87932	D	0	-32.4088	13.3948	0.60846	1.0:0.0:0.0:0.0	.	1211;1211;1211;1211;1211;431;1211	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	A	1211;1211;1275;1211;1211;1211;1211;1211	ENSP00000395654:E1211A;ENSP00000350720:E1211A;ENSP00000343896:E1211A;ENSP00000445036:E1211A;ENSP00000392837:E1211A;ENSP00000397783:E1211A;ENSP00000414727:E1211A	ENSP00000343896:E1211A	E	+	2	0	SMARCA4	11005051	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.821000	0.92009	2.012000	0.59069	0.456000	0.33151	GAG	SMARCA4	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000127616		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	61	0	A	NM_003072		11144051	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	C	C	11144051	A	C	11144051	3	2	13	1	0	0	0	0	1	0	0	0	14815	304	11	4	3730	4	SMARCA4	19	11144051	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2054950	11144051	47984932	592	4138											
EMR3	84658	genome.wustl.edu	37	chr19	14752277	14752277	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaagaggaggtgggccAggaagaggcagagcgagagc	13	1	21	6	2	0	4	0	0	0	4	0	9	0	7	1	6	2	1	1	6	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:14752277A>T	ENST00000253673.5	-	10	1302	c.1202T>A	c.(1201-1203)cTg>cAg	p.L401Q	EMR3_ENST00000599900.1_Missense_Mutation_p.L186Q|EMR3_ENST00000344373.4_Missense_Mutation_p.L349Q|EMR3_ENST00000443157.2_Missense_Mutation_p.L275Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	401					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAGGTGGGCCAGGAAGAGGCA	0.577																																																	0													123	96	105					19																	14752277		2203	4300	6503	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1202T>A	19.37:g.14752277A>T	ENSP00000253673:p.Leu401Gln			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.L401Q	ENST00000253673.5	37	c.1202	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	A	18.41	3.616991	0.66672	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.51574	0.7;0.7;0.7	3.84	3.84	0.44239	GPCR, family 2-like (1);	.	.	.	.	T	0.76630	0.4014	H	0.96208	3.785	0.25239	N	0.989761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69072	-0.5242	9	0.87932	D	0	.	10.6207	0.45478	1.0:0.0:0.0:0.0	.	275;349;401	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	Q	275;401;349	ENSP00000396208:L275Q;ENSP00000253673:L401Q;ENSP00000340758:L349Q	ENSP00000253673:L401Q	L	-	2	0	EMR3	14613277	0.982000	0.34865	1.000000	0.80357	0.799000	0.45148	3.659000	0.54489	1.607000	0.50170	0.459000	0.35465	CTG	EMR3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000131355		0.577	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	-	0	82	0	A	NM_032571		14752277	-1	tier1	-	no_errors	ENST00000253673	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T	T	14752277	A	T	14752277	3	4	13	1	0	0	0	0	1	0	0	0	5122	188	7	5	784	5	EMR3	19	14752277	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3608226	14752277	44376706	593	4139											
PGLYRP2	114770	genome.wustl.edu	37	chr19	15586453	15586453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactggctccagcctctgtAgaaggacaagggttccccac	9	8	11	13	0	1	1	0	0	1	1	3	2	3	2	4	3	2	4	4	3	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:15586453A>G	ENST00000340880.4	-	2	1508	c.1028T>C	c.(1027-1029)cTa>cCa	p.L343P	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.L343P	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	343					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CAGCCTCTGTAGAAGGACAAG	0.592																																																	0													68	67	68					19																	15586453		2203	4300	6503	SO:0001583	missense	0			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1028T>C	19.37:g.15586453A>G	ENSP00000345968:p.Leu343Pro		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.L343P	ENST00000340880.4	37	c.1028	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	A	12.81	2.050760	0.36181	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.06608	3.28;3.3	5.46	5.46	0.80206	.	0.328483	0.24256	N	0.040127	T	0.24044	0.0582	M	0.77616	2.38	0.50171	D	0.999857	D;D	0.71674	0.998;0.997	D;D	0.70227	0.968;0.952	T	0.00527	-1.1688	10	0.72032	D	0.01	-12.2247	11.9288	0.52835	1.0:0.0:0.0:0.0	.	343;343	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	P	343	ENSP00000345968:L343P;ENSP00000292609:L343P	ENSP00000292609:L343P	L	-	2	0	PGLYRP2	15447453	0.919000	0.31177	0.993000	0.49108	0.011000	0.07611	2.513000	0.45494	2.087000	0.62958	0.459000	0.35465	CTA	PGLYRP2	-	NULL	ENSG00000161031		0.592	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	-	0	51	0	A	NM_052890		15586453	-1	tier1	-	no_errors	ENST00000292609	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.952	G	G	15586453	A	G	15586453	3	3	13	1	0	0	0	0	1	0	0	0	11833	420	15	4	718	4	PGLYRP2	19	15586453	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	834176	15586453	43542530	594	4140											
CYP4F22	126410	genome.wustl.edu	37	chr19	15648359	15648359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaggggatgggctgctGctcagcaaaggtgacaagtg	9	6	17	9	0	1	1	1	1	0	0	1	2	1	2	1	5	3	4	1	5	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:15648359G>A	ENST00000269703.3	+	6	634	c.435G>A	c.(433-435)ctG>ctA	p.L145L	CYP4F22_ENST00000601005.2_Silent_p.L145L	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	145						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATGGGCTGCTGCTCAGCAAAG	0.552																																																	0													59	61	60					19																	15648359		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.435G>A	19.37:g.15648359G>A			Q8N8H4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.L145	ENST00000269703.3	37	c.435	CCDS12331.1	19																																																																																			CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171954		0.552	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2		0	67	0	G	NM_173483		15648359	1			no_errors	ENST00000269703	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	A	A	15648359	G	A	15648359	2	1	13	1	0	0	0	0	0	0	0	1	4198	1306	46	3		3	CYP4F22	19	15648359	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	61906	15648359	43480624	595	4141											
UNC13A	23025	genome.wustl.edu	37	chr19	17780382	17780382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggtagctcaaagcgcGtgtccaggaggatgcggtgg	9	7	17	8	3	1	0	1	0	0	0	2	2	2	2	1	5	3	2	1	5	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:17780382G>T	ENST00000519716.2	-	5	373	c.374C>A	c.(373-375)aCg>aAg	p.T125K	UNC13A_ENST00000428389.2_Missense_Mutation_p.T213K|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125K|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125K|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125K|UNC13A_ENST00000252773.7_Missense_Mutation_p.T125K	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	125					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.T213M(2)|p.T125M(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612																																																	4	Substitution - Missense(4)	prostate(2)|lung(2)											38	42	41					19																	17780382		2053	4191	6244	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.374C>A	19.37:g.17780382G>T	ENSP00000429562:p.Thr125Lys		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.T213K	ENST00000519716.2	37	c.638	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884233	0.72410	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	4.92	4.92	0.64577	C2 calcium/lipid-binding domain, CaLB (1);	0.063724	0.64402	U	0.000009	T	0.67979	0.2951	M	0.65498	2.005	0.38578	D	0.950105	B	0.32203	0.36	B	0.25405	0.06	T	0.74368	-0.3688	10	0.72032	D	0.01	-13.1865	15.6173	0.76778	0.0:0.0:1.0:0.0	.	125	Q9UPW8	UN13A_HUMAN	K	125;213;125;125;125;125	ENSP00000429562:T125K;ENSP00000400409:T213K;ENSP00000252773:T125K;ENSP00000447236:T125K;ENSP00000447572:T125K;ENSP00000446831:T125K	ENSP00000252773:T125K	T	-	2	0	UNC13A	17641382	1.000000	0.71417	0.945000	0.38365	0.925000	0.55904	6.480000	0.73604	2.283000	0.76528	0.561000	0.74099	ACG	UNC13A	-	superfamily_C2_dom	ENSG00000130477		0.612	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0	59	0	G	XM_038604		17780382	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	17780382	G	T	17780382	3	4	13	1	0	0	0	0	1	0	0	0	17033	1145	40	2	4889	2	UNC13A	19	17780382	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2132023	17780382	41348601	596	4142											
JAK3	3718	genome.wustl.edu	37	chr19	17942140	17942140	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgacgtgtgcctcgcTctccacgaggatgtttcggg	5	12	13	11	4	2	1	0	1	2	0	5	4	2	2	2	2	1	2	2	2	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:17942140T>G	ENST00000527670.1	-	20	2904	c.2875A>C	c.(2875-2877)Agc>Cgc	p.S959R	JAK3_ENST00000534444.1_Missense_Mutation_p.S959R|JAK3_ENST00000458235.1_Missense_Mutation_p.S959R			P52333	JAK3_HUMAN	Janus kinase 3	959	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTGCCTCGCTCTCCACGAGG	0.652		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													131	115	120					19																	17942140		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2875A>C	19.37:g.17942140T>G	ENSP00000432511:p.Ser959Arg		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S959R	ENST00000527670.1	37	c.2875	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518632	0.85495	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82711	-1.64;-1.64;-1.64	3.28	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.102777	0.64402	D	0.000005	D	0.85423	0.5693	L	0.43598	1.365	0.80722	D	1	D;B	0.55172	0.97;0.382	D;B	0.65773	0.938;0.353	D	0.85977	0.1480	10	0.87932	D	0	-24.3752	10.2413	0.43314	0.0:0.0:0.0:1.0	.	959;959	P52333-2;P52333	.;JAK3_HUMAN	R	959	ENSP00000391676:S959R;ENSP00000432511:S959R;ENSP00000436421:S959R	ENSP00000391676:S959R	S	-	1	0	JAK3	17803140	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.969000	0.63735	1.469000	0.48083	0.379000	0.24179	AGC	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105639		0.652	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0	117	0	T	NM_000215		17942140	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	9.38	87	9	SNP	1.000	G	G	17942140	T	G	17942140	3	3	13	1	0	0	0	0	1	0	0	0	7966	1551	54	4	515	4	JAK3	19	17942140	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	161758	17942140	41186843	597	4143											
ZNF85	7639	genome.wustl.edu	37	chr19	21132738	21132738	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaaatcttactagacataAgaaaagtcatacagaagaga	20	8	6	7	0	3	4	2	0	1	4	3	5	3	4	0	0	2	0	0	0	8	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:21132738A>C	ENST00000328178.8	+	4	1531	c.1418A>C	c.(1417-1419)aAg>aCg	p.K473T	ZNF85_ENST00000345030.6_Missense_Mutation_p.K440T|ZNF85_ENST00000601023.1_Missense_Mutation_p.K414T	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	473					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						ACTAGACATAAGAAAAGTCAT	0.343																																																	0													25	26	26					19																	21132738		2200	4294	6494	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1418A>C	19.37:g.21132738A>C	ENSP00000329793:p.Lys473Thr		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K473T	ENST00000328178.8	37	c.1418	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	4.754	0.140157	0.09083	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.51817	0.69;0.69	1.35	0.105	0.14535	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52837	0.1759	L	0.49571	1.57	0.34613	D	0.717794	D;B;P	0.69078	0.997;0.051;0.555	D;B;P	0.74674	0.984;0.079;0.535	T	0.59490	-0.7445	9	0.72032	D	0.01	.	2.0098	0.03485	0.5508:0.0:0.1882:0.2611	.	440;414;473	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	T	473;440;348	ENSP00000329793:K473T;ENSP00000342340:K440T	ENSP00000329793:K473T	K	+	2	0	ZNF85	20924578	0.000000	0.05858	0.037000	0.18230	0.031000	0.12232	0.454000	0.21827	-0.196000	0.10366	0.379000	0.24179	AAG	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.343	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0	51	0	A	NM_003429		21132738	1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	23.33	46	14	SNP	0.643	C	C	21132738	A	C	21132738	3	2	13	1	0	0	0	0	1	0	0	0	18241	72	3	4	1432	4	ZNF85	19	21132738	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3190598	21132738	37996245	598	4144											
ZNF257	113835	genome.wustl.edu	37	chr19	22271475	22271475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccttactcaacataagaGaattcatactggagagaaac	17	9	6	9	0	2	2	2	0	0	2	2	5	2	3	1	1	5	0	1	1	7	5	rs538824538		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:22271475G>T	ENST00000594947.1	+	4	1067	c.923G>T	c.(922-924)aGa>aTa	p.R308I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CAACATAAGAGAATTCATACT	0.403													G|||	1	0.000199681	8e-04	0	5008	,	,		20641	0		0	False		,,,				2504	0																0													47	52	50					19																	22271475		2133	4262	6395	SO:0001583	missense	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.923G>T	19.37:g.22271475G>T	ENSP00000470209:p.Arg308Ile		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R308I	ENST00000594947.1	37	c.923	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	G	3.616	-0.078616	0.07141	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.334	0.12666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48960	0.1529	M	0.66378	2.025	0.44024	D	0.996748	B	0.26876	0.162	B	0.27715	0.082	T	0.21793	-1.0235	8	0.25106	T	0.35	.	7.0337	0.24980	0.0:0.0:0.7294:0.2705	.	308	Q9Y2Q1	ZN257_HUMAN	I	308;280	.	ENSP00000380312:R280I	R	+	2	0	ZNF257	22063315	0.000000	0.05858	0.351000	0.25721	0.204000	0.24138	-0.487000	0.06505	-0.427000	0.07350	-0.823000	0.03104	AGA	ZNF257	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197134		0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1		0	56	0	G			22271475	1			no_errors	ENST00000594947	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	22271475	G	T	22271475	3	4	13	1	0	0	0	0	1	0	0	0	17848	942	33	3	937	3	ZNF257	19	22271475	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1138737	22271475	36857508	599	4145											
ZNF99	7652	genome.wustl.edu	37	chr19	22951136	22951136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttaccatctcatgtctcTtcatattccaaggctctttc	8	17	4	12	0	4	0	2	0	3	0	8	0	5	0	2	1	1	2	2	1	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:22951136T>G	ENST00000596209.1	-	3	287	c.197A>C	c.(196-198)aAg>aCg	p.K66T	ZNF99_ENST00000397104.3_Missense_Mutation_p.K87T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTCATGTCTCTTCATATTCCA	0.383																																																	0													58	62	61					19																	22951136		2174	4291	6465	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.197A>C	19.37:g.22951136T>G	ENSP00000472969:p.Lys66Thr		M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K87T	ENST00000596209.1	37	c.260	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	t	5.519	0.280654	0.10458	.	.	ENSG00000213973	ENST00000397104	T	0.06449	3.3	0.428	-0.855	0.10700	Krueppel-associated box (1);	.	.	.	.	T	0.14184	0.0343	M	0.66439	2.03	0.09310	N	1	D	0.71674	0.998	D	0.67900	0.954	T	0.22382	-1.0218	8	0.15499	T	0.54	.	.	.	.	.	87	A8MXY4	ZNF99_HUMAN	T	87	ENSP00000380293:K87T	ENSP00000380293:K87T	K	-	2	0	ZNF99	22742976	0.001000	0.12720	0.079000	0.20413	0.076000	0.17211	0.164000	0.16542	-0.593000	0.05844	-0.611000	0.04053	AAG	ZNF99	-	pfscan_Krueppel-associated_box	ENSG00000213973		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	118	0	T	XM_065124		22951136	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	37.90	77	47	SNP	0.104	G	G	22951136	T	G	22951136	3	3	13	1	0	0	0	0	1	0	0	0	18252	1609	56	4	2872	4	ZNF99	19	22951136	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	679661	22951136	36177847	600	4146											
ZNF681	148213	genome.wustl.edu	37	chr19	23928012	23928012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcactcatccacacttttacTtaactgtaaattctcatgtt	11	16	3	11	0	2	0	2	0	1	0	4	0	3	0	1	0	2	3	1	0	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:23928012T>G	ENST00000402377.3	-	4	481	c.340A>C	c.(340-342)Agt>Cgt	p.S114R	ZNF681_ENST00000395385.3_Missense_Mutation_p.S45R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACACTTTTACTTAACTGTAAA	0.343																																																	0													53	51	51					19																	23928012		2203	4298	6501	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.340A>C	19.37:g.23928012T>G	ENSP00000384000:p.Ser114Arg		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S114R	ENST00000402377.3	37	c.340	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.122354	0.00346	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.06068	3.4;3.35;6.13;6.47	0.886	0.886	0.19194	.	.	.	.	.	T	0.00845	0.0028	N	0.00020	-2.77	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45205	-0.9277	9	0.05959	T	0.93	.	5.595	0.17321	0.0:0.0:0.0:1.0	.	114	Q96N22	ZN681_HUMAN	R	114;45;45;45	ENSP00000384000:S114R;ENSP00000378783:S45R;ENSP00000433806:S45R;ENSP00000435824:S45R	ENSP00000378783:S45R	S	-	1	0	ZNF681	23719852	0.000000	0.05858	0.031000	0.17742	0.023000	0.10783	-0.614000	0.05604	0.257000	0.21650	0.254000	0.18369	AGT	ZNF681	-	NULL	ENSG00000196172		0.343	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	107	0	T	NM_138286		23928012	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	48.28	45	42	SNP	0.019	G	G	23928012	T	G	23928012	3	3	13	1	0	0	0	0	1	0	0	0	18136	1609	56	4	1601	4	ZNF681	19	23928012	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	976876	23928012	35200971	601	4147											
ZNF507	22847	genome.wustl.edu	37	chr19	32845759	32845759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttatcagtgtcctatctgcGagcacatagcggacaacagc	11	9	9	12	2	2	0	1	0	1	0	3	2	3	1	1	1	5	1	1	1	4	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:32845759G>A	ENST00000311921.4	+	2	2215	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	ZNF507_ENST00000544431.1_Missense_Mutation_p.E675K|ZNF507_ENST00000355898.5_Missense_Mutation_p.E675K	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	675					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCCTATCTGCGAGCACATAGC	0.483																																																	0													160	125	137					19																	32845759		2203	4300	6503	SO:0001583	missense	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2023G>A	19.37:g.32845759G>A	ENSP00000312277:p.Glu675Lys		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E675K	ENST00000311921.4	37	c.2023	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622289	0.87460	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.15487	2.42;2.42;2.42	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	N	0.25144	0.715	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.08848	-1.0702	10	0.62326	D	0.03	-25.2868	19.2483	0.93912	0.0:0.0:1.0:0.0	.	675;675	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	K	675	ENSP00000348162:E675K;ENSP00000312277:E675K;ENSP00000441549:E675K	ENSP00000312277:E675K	E	+	1	0	ZNF507	37537599	1.000000	0.71417	0.998000	0.56505	0.215000	0.24574	9.476000	0.97823	2.540000	0.85666	0.491000	0.48974	GAG	ZNF507	-	smart_Znf_C2H2-like	ENSG00000168813		0.483	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3		0	54	0	G	NM_014910		32845759	1			no_errors	ENST00000311921	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	32845759	G	A	32845759	3	1	13	1	0	0	0	0	1	0	0	0	18001	1059	37	1	2025	1	ZNF507	19	32845759	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8917747	32845759	26283224	602	4148											
ZNF565	147929	genome.wustl.edu	37	chr19	36674142	36674142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaccagtatgaagtctCtgatgtagaataagttctga	13	13	9	6	0	2	5	0	4	2	1	3	5	2	5	1	0	0	3	1	0	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:36674142C>A	ENST00000355114.5	-	5	1572	c.846G>T	c.(844-846)caG>caT	p.Q282H	ZNF565_ENST00000392173.2_Missense_Mutation_p.Q242H|ZNF565_ENST00000304116.5_Missense_Mutation_p.Q242H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TATGAAGTCTCTGATGTAGAA	0.438																																																	0													83	77	79					19																	36674142		2203	4300	6503	SO:0001583	missense	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.846G>T	19.37:g.36674142C>A	ENSP00000347234:p.Gln282His		B3KQ35|Q6NUS2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q242H	ENST00000355114.5	37	c.726		19	.	.	.	.	.	.	.	.	.	.	c	9.665	1.145125	0.21288	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.36520	1.25;1.25;1.25	4.36	-0.629	0.11533	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37715	N	0.001971	T	0.20088	0.0483	L	0.38531	1.155	0.22500	N	0.999041	P	0.35456	0.502	B	0.28849	0.095	T	0.10497	-1.0627	10	0.56958	D	0.05	.	4.9067	0.13802	0.0:0.5506:0.1548:0.2946	.	242	Q8N9K5	ZN565_HUMAN	H	242;242;282	ENSP00000376013:Q242H;ENSP00000306869:Q242H;ENSP00000347234:Q282H	ENSP00000306869:Q242H	Q	-	3	2	ZNF565	41365982	0.003000	0.15002	0.107000	0.21349	0.009000	0.06853	-0.477000	0.06583	-0.077000	0.12752	0.585000	0.79938	CAG	ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196357		0.438	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	-	0	33	0	C	NM_152477		36674142	-1	tier1	-	no_errors	ENST00000304116	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.980	A	A	36674142	C	A	36674142	3	1	13	1	0	0	0	0	1	0	0	0	18044	912	32	3	777	3	ZNF565	19	36674142	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3828383	36674142	22454841	603	4149											
FCGBP	8857	genome.wustl.edu	37	chr19	40357618	40357618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaggacacagagaccaCgggtggcccagcagttccgg	11	3	14	13	2	0	2	0	0	0	2	1	4	1	3	3	4	1	2	3	4	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:40357618C>T	ENST00000221347.6	-	34	15702	c.15695G>A	c.(15694-15696)cGt>cAt	p.R5232H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5232						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGAGACCACGGGTGGCCCA	0.627																																																	0													91	71	78					19																	40357618		2203	4300	6503	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15695G>A	19.37:g.40357618C>T	ENSP00000221347:p.Arg5232His		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.R5232H	ENST00000221347.6	37	c.15695	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790734	0.31685	.	.	ENSG00000090920	ENST00000221347	T	0.18960	2.18	4.45	-8.91	0.00778	Follistatin-like, N-terminal (1);von Willebrand factor, type D domain (1);	2.501090	0.02276	U	0.068887	T	0.12092	0.0294	L	0.36672	1.1	0.09310	N	1	B	0.25390	0.125	B	0.17722	0.019	T	0.12941	-1.0528	10	0.31617	T	0.26	.	2.977	0.05941	0.1102:0.4582:0.2474:0.1841	.	5232	Q9Y6R7	FCGBP_HUMAN	H	5232	ENSP00000221347:R5232H	ENSP00000221347:R5232H	R	-	2	0	FCGBP	45049458	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.701000	0.00389	-1.405000	0.02048	0.655000	0.94253	CGT	FCGBP	-	smart_VWC_out,smart_Fol_N,smart_VWF_type-D	ENSG00000090920		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0	47	0	C	NM_003890		40357618	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.000	T	T	40357618	C	T	40357618	3	4	13	1	0	0	0	0	1	0	0	0	5800	536	19	1	534	1	FCGBP	19	40357618	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	3683476	40357618	18771365	604	4150											
ITPKC	80271	genome.wustl.edu	37	chr19	41223895	41223895	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacctagcactgacggttcCcagacagcacctgggacaga	12	5	10	14	1	0	3	0	1	0	2	1	4	1	4	3	2	3	3	3	2	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:41223895C>A	ENST00000263370.2	+	1	888	c.855C>A	c.(853-855)tcC>tcA	p.S285S	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	285					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTGACGGTTCCCAGACAGCAC	0.542																																																	0													91	87	88					19																	41223895		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.855C>A	19.37:g.41223895C>A			Q9UE25|Q9Y475	Silent	SNP	pfam_IPK	p.S285	ENST00000263370.2	37	c.855	CCDS12563.1	19																																																																																			ITPKC	-	NULL	ENSG00000086544		0.542	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1		0	145	0	C	NM_025194		41223895	1			no_errors	ENST00000263370	ensembl	human	known	74_37	silent	5.75	82	5	SNP	0.038	A	A	41223895	C	A	41223895	2	1	13	1	0	0	0	0	0	0	0	1	7946	610	22	3		3	ITPKC	19	41223895	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	866277	41223895	17905088	605	4151											
HNRNPUL1	11100	genome.wustl.edu	37	chr19	41777994	41777994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgacaatagaaatgaaGacagagatgaagcaaggagc	18	6	12	5	0	1	6	0	3	1	3	1	8	1	7	0	1	2	1	0	1	6	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:41777994G>T	ENST00000392006.3	+	3	599	c.426G>T	c.(424-426)aaG>aaT	p.K142N	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.K53N|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.K142N|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.K42N|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.K99N	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	142					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGAAATGAAGACAGAGATGA	0.498																																																	0													111	115	113					19																	41777994		2203	4300	6503	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.426G>T	19.37:g.41777994G>T	ENSP00000375863:p.Lys142Asn		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.K142N	ENST00000392006.3	37	c.426	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850032	0.51270	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.92048	0.76;-2.96;1.42;-2.93	5.97	2.7	0.31948	.	0.463572	0.24256	N	0.040127	D	0.91321	0.7263	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.65815	0.991;0.995;0.995;0.991;0.995	P;D;D;P;P	0.63877	0.766;0.919;0.919;0.831;0.882	D	0.90143	0.4215	10	0.66056	D	0.02	-24.9644	8.9948	0.36045	0.2918:0.0:0.7082:0.0	.	42;142;99;142;42	A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	N	42;142;99;53	ENSP00000340857:K42N;ENSP00000375863:K142N;ENSP00000367460:K99N;ENSP00000263367:K53N	ENSP00000263367:K53N	K	+	3	2	HNRNPUL1	46469834	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.261000	0.58841	0.874000	0.35823	-0.229000	0.12294	AAG	HNRNPUL1	-	NULL	ENSG00000105323		0.498	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	-	0	58	0	G	NM_144732, NM_007040		41777994	1	tier1	-	no_errors	ENST00000392006	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	41777994	G	T	41777994	3	4	13	1	0	0	0	0	1	0	0	0	7301	933	33	3	436	3	HNRNPUL1	19	41777994	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	554099	41777994	17350989	606	4152											
IRGQ	126298	genome.wustl.edu	37	chr19	44099419	44099419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgtcgcacagcgctgcGatcagcgcggacttccccaa	7	8	10	16	5	1	0	1	0	0	0	4	2	3	1	3	1	3	2	3	1	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44099419G>A	ENST00000602269.1	-	1	257	c.72C>T	c.(70-72)atC>atT	p.I24I	IRGQ_ENST00000422989.1_Silent_p.I24I|ZNF576_ENST00000336564.4_5'Flank|ZNF576_ENST00000391965.2_5'Flank|ZNF576_ENST00000528387.1_5'Flank|ZNF576_ENST00000533118.1_5'Flank|SRRM5_ENST00000526798.1_5'Flank|ZNF576_ENST00000529930.1_5'Flank|L34079.2_ENST00000594374.1_5'Flank|ZNF576_ENST00000525771.1_5'Flank|SRRM5_ENST00000607544.1_5'Flank|IRGQ_ENST00000601520.1_5'Flank			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24										endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672																																																	0													29	27	27					19																	44099419		2119	4164	6283	SO:0001819	synonymous_variant	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.72C>T	19.37:g.44099419G>A			B2RNP3	Silent	SNP	superfamily_P-loop_NTPase	p.I24	ENST00000602269.1	37	c.72	CCDS33040.1	19																																																																																			IRGQ	-	superfamily_P-loop_NTPase	ENSG00000167378		0.672	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0	138	0	G	NM_001007561		44099419	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	silent	28.89	63	26	SNP	0.009	A	A	44099419	G	A	44099419	2	1	13	1	0	0	0	0	0	0	0	1	7866	1048	37	1		1	IRGQ	19	44099419	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2321425	44099419	15029564	607	4153											
ZNF234	10780	genome.wustl.edu	37	chr19	44661688	44661688	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcattgtaggatccacAcaggggagaaaccatataat	17	9	8	7	0	1	1	1	0	0	1	2	3	2	2	2	3	1	1	2	3	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44661688A>C	ENST00000426739.2	+	6	1777	c.1519A>C	c.(1519-1521)Aca>Cca	p.T507P	ZNF234_ENST00000592437.1_Missense_Mutation_p.T507P	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	507					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAGGATCCACACAGGGGAGAA	0.453																																																	0													73	78	76					19																	44661688		2133	4275	6408	SO:0001583	missense	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1519A>C	19.37:g.44661688A>C	ENSP00000400878:p.Thr507Pro		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T507P	ENST00000426739.2	37	c.1519	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067625	0.76301	.	.	ENSG00000167380	ENST00000426739	T	0.25749	1.78	4.03	4.03	0.46877	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47710	0.1460	M	0.67517	2.055	0.35159	D	0.770499	D	0.76494	0.999	D	0.87578	0.998	T	0.62455	-0.6851	9	0.87932	D	0	.	12.3548	0.55169	1.0:0.0:0.0:0.0	.	507	Q14588	ZN234_HUMAN	P	507	ENSP00000400878:T507P	ENSP00000400878:T507P	T	+	1	0	ZNF226	49353528	0.994000	0.37717	0.928000	0.36995	0.941000	0.58515	3.203000	0.51075	1.812000	0.52913	0.482000	0.46254	ACA	ZNF234	-	pfscan_Znf_C2H2	ENSG00000263002		0.453	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0	101	0	A			44661688	1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	25.68	54	19	SNP	1.000	C	C	44661688	A	C	44661688	3	2	13	1	0	0	0	0	1	0	0	0	17835	159	6	4	1533	4	ZNF234	19	44661688	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	562269	44661688	14467295	608	4154											
ZNF229	7772	genome.wustl.edu	37	chr19	44933017	44933017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctgtgtggactctctGgtgaatgagaagccctgagc	7	10	13	11	1	1	3	0	3	1	1	3	5	1	4	2	2	2	0	2	2	2	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:44933017G>T	ENST00000588931.1	-	6	2372	c.1939C>A	c.(1939-1941)Cag>Aag	p.Q647K	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.Q641K|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	647					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGGACTCTCTGGTGAATGAGA	0.517																																																	0													108	111	110					19																	44933017		2169	4288	6457	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1939C>A	19.37:g.44933017G>T	ENSP00000466519:p.Gln647Lys		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q647K	ENST00000588931.1	37	c.1939	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685312	0.47991	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.35	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	N	0.04820	-0.15	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21586	-1.0241	8	0.32370	T	0.25	.	7.3565	0.26721	0.0:0.1846:0.6256:0.1898	.	647	Q9UJW7	ZN229_HUMAN	K	647	.	ENSP00000291187:Q647K	Q	-	1	0	ZNF229	49624857	0.004000	0.15560	0.040000	0.18447	0.674000	0.39518	0.322000	0.19576	0.492000	0.27815	0.609000	0.83330	CAG	ZNF229	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167383		0.517	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	-	0	73	0	G	NM_014518		44933017	-1	tier1	-	no_errors	ENST00000588931	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.411	T	T	44933017	G	T	44933017	3	4	13	1	0	0	0	0	1	0	0	0	17830	1357	47	3	542	3	ZNF229	19	44933017	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	271329	44933017	14195966	609	4155											
RELB	5971	genome.wustl.edu	37	chr19	45532204	45532204	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaggaaagcgggccgtgCaccggtggcgaggagctcta	11	4	16	10	4	1	0	0	0	1	0	1	3	1	2	2	5	4	2	2	5	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:45532204C>A	ENST00000221452.8	+	8	1095	c.945C>A	c.(943-945)tgC>tgA	p.C315*	RELB_ENST00000540120.1_Nonsense_Mutation_p.C315*|RELB_ENST00000505236.1_Nonsense_Mutation_p.C312*	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	315	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCGGGCCGTGCACCGGTGGCG	0.552																																																	0													27	28	28					19																	45532204		1932	4134	6066	SO:0001587	stop_gained	0			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.945C>A	19.37:g.45532204C>A	ENSP00000221452:p.Cys315*		Q6GTX7|Q9UEI7	Nonsense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.C315*	ENST00000221452.8	37	c.945	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.222133	0.97390	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	.	.	.	5.22	1.87	0.25490	.	0.123358	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1785	9.1714	0.37083	0.0:0.7528:0.0:0.2472	.	.	.	.	X	315;315;312	.	ENSP00000221452:C315X	C	+	3	2	RELB	50224044	0.881000	0.30235	0.998000	0.56505	0.959000	0.62525	0.504000	0.22626	0.773000	0.33404	0.655000	0.94253	TGC	RELB	-	superfamily_Ig_E-set,smart_IPT	ENSG00000104856		0.552	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	-	0	101	0	C			45532204	1	tier1	-	no_errors	ENST00000221452	ensembl	human	known	74_37	nonsense	26.85	77	29	SNP	0.913	A	A	45532204	C	A	45532204	4	1	13	1	0	0	0	0	0	1	0	0	13262	718	25	3	967	3	RELB	19	45532204	Nonsense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	599187	45532204	13596779	610	4156											
BBC3	27113	genome.wustl.edu	37	chr19	47725010	47725010	+	3'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgtcaggaggtgggAggggcctgccccccgagtcc	5	5	18	13	1	1	0	1	0	0	0	2	3	2	2	6	6	1	0	6	6	0	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:47725010A>G	ENST00000439096.2	-	0	911				BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000449228.1_Missense_Mutation_p.L245P|BBC3_ENST00000300880.7_Missense_Mutation_p.L85P	NM_014417.4	NP_055232.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|determination of adult lifespan (GO:0008340)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of growth (GO:0045926)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|release of cytochrome c from mitochondria (GO:0001836)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		AGGAGGTGGGAGGGGCCTGCC	0.706																																																	0													15	17	16					19																	47725010		2198	4298	6496	SO:0001624	3_prime_UTR_variant	0			AF332558	CCDS12697.1, CCDS46128.1, CCDS46129.1, CCDS46130.1	19q13.3-q13.4	2014-03-07							17868	protein-coding gene	gene with protein product		605854				11463392, 11572983	Standard	NM_001127240		Approved	JFY1, PUMA	uc002pgf.4	Q96PG8		ENST00000439096.2:c.*49T>C	19.37:g.47725010A>G			B9EGI3|O00171|Q96PG9	Missense_Mutation	SNP	NULL	p.L245P	ENST00000439096.2	37	c.734	CCDS12697.1	19	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821374	0.50633	.	.	ENSG00000105327	ENST00000449228;ENST00000300880	.	.	.	4.68	0.754	0.18410	.	.	.	.	.	T	0.28863	0.0716	N	0.08118	0	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.13407	0.009;0.009	T	0.04579	-1.0941	8	0.87932	D	0	.	6.6889	0.23160	0.5993:0.0:0.4007:0.0	.	245;85	E9PAW3;Q96PG8	.;.	P	245;85	.	ENSP00000300880:L85P	L	-	2	0	BBC3	52416850	0.997000	0.39634	0.997000	0.53966	0.986000	0.74619	0.129000	0.15830	-0.096000	0.12329	0.533000	0.62120	CTC	BBC3	-	NULL	ENSG00000105327		0.706	BBC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BBC3	HGNC	protein_coding	OTTHUMT00000466874.1	-	0	105	0	A	NM_014417		47725010	-1	tier1	-	no_errors	ENST00000449228	ensembl	human	known	74_37	missense	10.61	58	7	SNP	0.992	G	G	47725010	A	G	47725010	1	3	13	0	1	0	0	0	0	0	0	0	1334	304	11	4		4	BBC3	19	47725010	3'UTR	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2192806	47725010	11403973	611	4157											
HSD17B14	51171	genome.wustl.edu	37	chr19	49335011	49335011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctcaggcctctgtggggGtgggtctaaagtggggggtg	4	10	19	8	0	3	0	1	0	2	0	4	0	4	0	2	7	0	0	2	7	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:49335011G>T	ENST00000263278.4	-	5	549	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	HSD17B14_ENST00000599157.1_Intron	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	95					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CTCTGTGGGGGTGGGTCTAAA	0.622																																																	0													39	42	41					19																	49335011		2203	4300	6503	SO:0001583	missense	0			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	23238	protein-coding gene	gene with protein product	"retinal short-chain dehydrogenase/reductase 3", "short chain dehydrogenase/reductase family 47C, member 1"	612832	"dehydrogenase/reductase (SDR family) member 10"	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.283C>A	19.37:g.49335011G>T	ENSP00000263278:p.Pro95Thr		Q9UKU3	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.P95T	ENST00000263278.4	37	c.283	CCDS12736.1	19	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183804	0.38609	.	.	ENSG00000087076	ENST00000263278	T	0.21932	1.98	4.26	2.0	0.26442	NAD(P)-binding domain (1);	0.280930	0.33712	N	0.004629	T	0.21145	0.0509	L	0.33668	1.02	0.09310	N	1	D	0.59357	0.985	P	0.53035	0.716	T	0.14062	-1.0486	10	0.15952	T	0.53	.	10.5435	0.45047	0.0:0.383:0.617:0.0	.	95	Q9BPX1	DHB14_HUMAN	T	95	ENSP00000263278:P95T	ENSP00000263278:P95T	P	-	1	0	HSD17B14	54026823	0.549000	0.26481	0.044000	0.18714	0.012000	0.07955	2.743000	0.47442	0.516000	0.28340	-0.310000	0.09108	CCC	HSD17B14	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase	ENSG00000087076		0.622	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1		0	79	0	G	NM_016246		49335011	-1			no_errors	ENST00000263278	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.017	T	T	49335011	G	T	49335011	3	4	13	1	0	0	0	0	1	0	0	0	7410	1261	44	3	549	3	HSD17B14	19	49335011	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1610001	49335011	9793972	612	4158											
RPL13A	23521	genome.wustl.edu	37	chr19	49994080	49994080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaggccgctctggacCgtctcaaggtgtttgacggc	6	8	15	12	3	2	1	1	1	2	0	3	3	2	2	3	5	0	2	3	5	1	1	rs569616137		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:49994080C>T	ENST00000391857.4	+	5	377	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	SNORD34_ENST00000365633.1_RNA|RPL13A_ENST00000477613.2_3'UTR|SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|SNORD33_ENST00000362761.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	101					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGCTCTGGACCGTCTCAAGGT	0.607																																																	0													63	59	60					19																	49994080		2203	4300	6503	SO:0001583	missense	0			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"L ribosomal proteins"	10304	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 1"	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.301C>T	19.37:g.49994080C>T	ENSP00000375730:p.Arg101Cys		A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.R101C	ENST00000391857.4	37	c.301	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349685	0.82132	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	5.91	3.68	0.42216	Ribosomal protein L13, conserved site (1);Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000001	T	0.61248	0.2332	M	0.89414	3.03	0.80722	D	1	P;P	0.43750	0.713;0.816	B;B	0.40285	0.253;0.325	T	0.68580	-0.5371	9	0.72032	D	0.01	.	8.5188	0.33262	0.1535:0.766:0.0:0.0805	.	101;101	Q5QTS3;P40429	.;RL13A_HUMAN	C	101	.	ENSP00000375730:R101C	R	+	1	0	RPL13A	54685892	0.998000	0.40836	0.999000	0.59377	0.969000	0.65631	2.275000	0.43399	1.509000	0.48786	0.655000	0.94253	CGT	RPL13A	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	ENSG00000142541		0.607	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	-	0	60	0	C			49994080	1	tier1	-	no_errors	ENST00000391857	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.989	T	T	49994080	C	T	49994080	3	4	13	1	0	0	0	0	1	0	0	0	13605	652	23	1	319	1	RPL13A	19	49994080	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	659069	49994080	9134903	613	4159											
PRRG2	5639	genome.wustl.edu	37	chr19	50093249	50093249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacccccaggcctccccaCctatgagcaggcgctggcag	7	4	10	20	1	0	1	0	1	0	0	1	1	1	1	7	3	1	3	7	3	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:50093249C>T	ENST00000246794.5	+	6	699	c.530C>T	c.(529-531)aCc>aTc	p.T177I	PRRG2_ENST00000596700.1_3'UTR|PRR12_ENST00000418929.2_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	177						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GGCCTCCCCACCTATGAGCAG	0.716																																																	0													2	2	2					19																	50093249		1476	3047	4523	SO:0001583	missense	0				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.530C>T	19.37:g.50093249C>T	ENSP00000246794:p.Thr177Ile		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.T177I	ENST00000246794.5	37	c.530	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482912	0.84747	.	.	ENSG00000126460	ENST00000246794;ENST00000543867	D	0.97553	-4.43	4.75	4.75	0.60458	.	0.117120	0.52532	D	0.000078	D	0.97864	0.9298	M	0.65975	2.015	0.38873	D	0.956745	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.994	D	0.99418	1.0932	10	0.87932	D	0	-30.9692	13.575	0.61868	0.0:1.0:0.0:0.0	.	154;177	F5GZ13;O14669	.;TMG2_HUMAN	I	177;154	ENSP00000246794:T177I	ENSP00000246794:T177I	T	+	2	0	PRRG2	54785061	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	3.599000	0.54045	2.349000	0.79799	0.455000	0.32223	ACC	PRRG2	-	NULL	ENSG00000126460		0.716	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	-	0	20	0	C	NM_000951		50093249	1	tier1	-	no_errors	ENST00000246794	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T	T	50093249	C	T	50093249	3	4	13	1	0	0	0	0	1	0	0	0	12648	507	18	3	548	3	PRRG2	19	50093249	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	99169	50093249	9035734	614	4160											
KLK3	354	genome.wustl.edu	37	chr19	51362846	51362846	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggtcctccatggctccCtagtgccctggagaggaggt	6	9	14	12	1	0	1	0	0	0	1	3	4	3	2	4	5	1	1	4	5	1	1	rs143518180	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:51362846C>A	ENST00000326003.2	+	5	671				KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Missense_Mutation_p.L231I|KLK3_ENST00000597483.1_Missense_Mutation_p.L188I	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3						cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CCATGGCTCCCTAGTGCCCTG	0.597																																					Colon(185;1767 2023 13025 30120 37630)												0													109	90	96					19																	51362846		2203	4300	6503	SO:0001627	intron_variant	0			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"Kallikreins"	6364	protein-coding gene	gene with protein product		176820	"kallikrein 3, (prostate specific antigen)"	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.631-382C>A	19.37:g.51362846C>A			C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L231I	ENST00000326003.2	37	c.691	CCDS12807.1	19	.	.	.	.	.	.	.	.	.	.	c	2.967	-0.213309	0.06140	.	.	ENSG00000142515	ENST00000360617	D	0.88354	-2.37	1.21	-1.12	0.09808	.	.	.	.	.	T	0.70491	0.3230	N	0.02685	-0.53	0.21355	N	0.999719	B	0.20368	0.044	B	0.14023	0.01	T	0.60094	-0.7330	9	0.87932	D	0	.	3.9709	0.09452	0.0:0.5269:0.0:0.4731	.	231	G3XAE3	.	I	231	ENSP00000353829:L231I	ENSP00000353829:L231I	L	+	1	2	KLK3	56054658	0.000000	0.05858	0.029000	0.17559	0.125000	0.20455	0.563000	0.23547	-0.328000	0.08539	0.400000	0.26472	CTA	KLK3	-	NULL	ENSG00000142515		0.597	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	-	0	60	0	C	NM_145864		51362846	1	tier1	-	no_errors	ENST00000360617	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.190	A	A	51362846	C	A	51362846	1	1	13	0	1	0	0	0	0	0	0	0	8432	680	24	3		3	KLK3	19	51362846	Intron	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1269597	51362846	7766137	615	4161											
ZNF615	284370	genome.wustl.edu	37	chr19	52505106	52505106	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcatcttctgttgtgcaAgtttcttctcctcgttccaa	6	19	5	11	1	5	0	1	0	4	0	8	0	6	0	2	0	1	4	2	0	2	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52505106A>G	ENST00000602063.1	-	5	547	c.198T>C	c.(196-198)acT>acC	p.T66T	ZNF615_ENST00000597747.1_Silent_p.T66T|ZNF615_ENST00000598071.1_Silent_p.T66T|ZNF615_ENST00000595114.1_5'Flank|ZNF615_ENST00000376716.5_Silent_p.T66T|ZNF615_ENST00000391795.3_Silent_p.T71T|ZNF615_ENST00000594083.1_Silent_p.T66T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTGTTGTGCAAGTTTCTTCTC	0.483																																																	0													181	137	152					19																	52505106		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.198T>C	19.37:g.52505106A>G			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T66	ENST00000602063.1	37	c.198	CCDS12846.1	19																																																																																			ZNF615	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197619		0.483	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	-	0	100	0	A	NM_198480		52505106	-1	tier1	-	no_errors	ENST00000594083	ensembl	human	known	74_37	silent	8.20	56	5	SNP	0.000	G	G	52505106	A	G	52505106	2	3	13	1	0	0	0	0	0	0	0	1	18088	59	3	4		4	ZNF615	19	52505106	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1142260	52505106	6623877	616	4162											
ZNF616	90317	genome.wustl.edu	37	chr19	52620093	52620093	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggcactggcacttctttAtcatttgtttcaccatcttt	6	18	7	10	0	4	0	2	0	2	0	4	0	4	0	1	3	0	3	1	3	1	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52620093A>G	ENST00000600228.1	-	4	585	c.324T>C	c.(322-324)gaT>gaC	p.D108D	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	108					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GCACTTCTTTATCATTTGTTT	0.333																																																	0													195	176	183					19																	52620093		2202	4300	6502	SO:0001819	synonymous_variant	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.324T>C	19.37:g.52620093A>G			B3KRV1|Q0P658|Q658V7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D108	ENST00000600228.1	37	c.324	CCDS33090.1	19																																																																																			ZNF616	-	NULL	ENSG00000204611		0.333	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0	60	0	A	XM_030892		52620093	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	silent	18.03	50	11	SNP	0.004	G	G	52620093	A	G	52620093	2	3	13	1	0	0	0	0	0	0	0	1	18089	446	16	4		4	ZNF616	19	52620093	Silent	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	114987	52620093	6508890	617	4163											
ZNF880	400713	genome.wustl.edu	37	chr19	52887662	52887662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatgagtgtggcaaagtcTtcactcaaaattctcacctt	11	13	7	10	0	5	1	4	1	2	0	6	1	5	1	1	1	0	1	1	1	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:52887662T>C	ENST00000422689.2	+	4	844	c.829T>C	c.(829-831)Ttc>Ctc	p.F277L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	277					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGGCAAAGTCTTCACTCAAAA	0.408																																																	0													62	57	59					19																	52887662		1568	3582	5150	SO:0001583	missense	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.829T>C	19.37:g.52887662T>C	ENSP00000406318:p.Phe277Leu		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F277L	ENST00000422689.2	37	c.829	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392033	0.62066	.	.	ENSG00000221923	ENST00000422689	T	0.46063	0.88	2.03	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67021	0.2849	M	0.90705	3.14	0.23780	N	0.996863	D	0.89917	1.0	D	0.91635	0.999	T	0.54289	-0.8316	8	.	.	.	.	8.7771	0.34769	0.0:0.0:0.0:1.0	.	277	Q6PDB4	ZN880_HUMAN	L	277	ENSP00000406318:F277L	.	F	+	1	0	ZNF880	57579474	1.000000	0.71417	0.004000	0.12327	0.037000	0.13140	6.236000	0.72339	0.918000	0.36919	0.450000	0.29827	TTC	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221923		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	43	0	T	NM_001145434		52887662	1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.645	C	C	52887662	T	C	52887662	3	2	13	1	0	0	0	0	1	0	0	0	18245	1609	56	4	843	4	ZNF880	19	52887662	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	267569	52887662	6241321	618	4164											
ZNF600	162966	genome.wustl.edu	37	chr19	53269900	53269900	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggcatacaagggatgacTtgtgactgaaggtcttgcca	11	10	13	7	0	1	3	0	3	1	0	1	5	1	4	1	3	2	1	1	3	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:53269900T>A	ENST00000338230.3	-	3	1376	c.1109A>T	c.(1108-1110)aAg>aTg	p.K370M		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AAGGGATGACTTGTGACTGAA	0.418																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													158	151	154					19																	53269900		2203	4300	6503	SO:0001583	missense	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"Zinc fingers, C2H2-type"	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1109A>T	19.37:g.53269900T>A	ENSP00000344791:p.Lys370Met		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K370M	ENST00000338230.3	37	c.1109	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	3.934	-0.015486	0.07681	.	.	ENSG00000189190	ENST00000338230	T	0.36157	1.27	1.58	-0.939	0.10408	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22003	0.0530	L	0.31845	0.965	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21109	-1.0255	9	0.34782	T	0.22	.	3.8782	0.09066	0.0:0.1541:0.218:0.6279	.	370	Q6ZNG1	ZN600_HUMAN	M	370	ENSP00000344791:K370M	ENSP00000344791:K370M	K	-	2	0	ZNF600	57961712	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.798000	0.00762	-0.100000	0.12241	0.254000	0.18369	AAG	ZNF600	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.418	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	-	0	127	0	T	NM_198457		53269900	-1	tier1	-	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	7.62	97	8	SNP	0.000	A	A	53269900	T	A	53269900	3	1	13	1	0	0	0	0	1	0	0	0	18078	1609	56	5	1063	5	ZNF600	19	53269900	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	382238	53269900	5859083	619	4165											
ZNF813	126017	genome.wustl.edu	37	chr19	53994412	53994412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgacaaagctttcaGtttcaaatcaaaccttaaaa	18	11	5	7	0	3	2	3	1	0	1	3	2	3	2	1	0	2	2	1	0	6	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:53994412G>C	ENST00000396403.4	+	4	1054	c.926G>C	c.(925-927)aGt>aCt	p.S309T	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGCTTTCAGTTTCAAATCA	0.393																																																	0													70	77	75					19																	53994412		2192	4298	6490	SO:0001583	missense	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.926G>C	19.37:g.53994412G>C	ENSP00000379684:p.Ser309Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S309T	ENST00000396403.4	37	c.926	CCDS46172.1	19	.	.	.	.	.	.	.	.	.	.	g	8.944	0.966449	0.18659	.	.	ENSG00000198346	ENST00000396403	T	0.01981	4.52	1.28	-0.239	0.13050	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	L	0.27975	0.815	0.09310	N	1	B	0.29188	0.236	B	0.28305	0.088	T	0.49011	-0.8983	9	0.25751	T	0.34	.	7.7016	0.28625	0.0:0.5016:0.4984:0.0	.	309	Q6ZN06	ZN813_HUMAN	T	309	ENSP00000379684:S309T	ENSP00000379684:S309T	S	+	2	0	ZNF813	58686224	0.000000	0.05858	0.030000	0.17652	0.670000	0.39368	-7.482000	0.00035	-0.666000	0.05310	0.186000	0.17326	AGT	ZNF813	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198346		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0	112	0	G	NM_001004301		53994412	1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	missense	13.92	68	11	SNP	0.000	C	C	53994412	G	C	53994412	3	2	13	1	0	0	0	0	1	0	0	0	18223	1029	36	5	936	5	ZNF813	19	53994412	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	724512	53994412	5134571	620	4166											
TMEM86B	255043	genome.wustl.edu	37	chr19	55738621	55738621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcagcatagtaggtggtCatgatcaccaggtgggcatg	9	9	16	7	0	2	1	2	1	0	0	2	1	2	1	1	5	1	4	1	5	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:55738621C>G	ENST00000327042.4	-	3	1131	c.609G>C	c.(607-609)atG>atC	p.M203I	AC010327.2_ENST00000598855.1_5'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	203					ether lipid metabolic process (GO:0046485)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alkenylglycerophosphocholine hydrolase activity (GO:0047408)|alkenylglycerophosphoethanolamine hydrolase activity (GO:0047409)			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		AGTAGGTGGTCATGATCACCA	0.647																																																	0													35	25	28					19																	55738621		2195	4298	6493	SO:0001583	missense	0			BC023000	CCDS12920.1	19q13.42	2011-07-12					3.3.2.2, 3.3.2.5		28448	protein-coding gene	gene with protein product						21515882	Standard	NM_173804		Approved	MGC30208	uc002qju.3	Q8N661		ENST00000327042.4:c.609G>C	19.37:g.55738621C>G	ENSP00000321038:p.Met203Ile			Missense_Mutation	SNP	pfam_YhhN	p.M203I	ENST00000327042.4	37	c.609	CCDS12920.1	19	.	.	.	.	.	.	.	.	.	.	.	16.40	3.111528	0.56398	.	.	ENSG00000180089	ENST00000327042	T	0.25912	1.77	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.51719	0.1691	M	0.76433	2.335	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56631	-0.7947	10	0.59425	D	0.04	.	16.3135	0.82905	0.0:1.0:0.0:0.0	.	203	Q8N661	TM86B_HUMAN	I	203	ENSP00000321038:M203I	ENSP00000321038:M203I	M	-	3	0	TMEM86B	60430433	0.998000	0.40836	0.947000	0.38551	0.045000	0.14185	4.306000	0.59117	2.232000	0.73038	0.561000	0.74099	ATG	TMEM86B	-	pfam_YhhN	ENSG00000180089		0.647	TMEM86B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM86B	HGNC	protein_coding	OTTHUMT00000452659.1	-	0	85	0	C	NM_173804		55738621	-1	tier1	-	no_errors	ENST00000327042	ensembl	human	known	74_37	missense	56.06	29	37	SNP	1.000	G	G	55738621	C	G	55738621	3	3	13	1	0	0	0	0	1	0	0	0	16256	826	29	5	75	5	TMEM86B	19	55738621	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1744209	55738621	3390362	621	4167											
NLRP13	126204	genome.wustl.edu	37	chr19	56443411	56443411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtcagattcattgtctgGaagatgccgaggaccacttt	10	11	12	8	1	3	2	2	0	1	2	3	6	3	4	2	3	1	0	2	3	1	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:56443411G>T	ENST00000342929.3	-	1	266	c.267C>A	c.(265-267)ttC>ttA	p.F89L	NLRP13_ENST00000588751.1_Missense_Mutation_p.F89L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	89	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)	p.F89F(2)|p.F89L(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCATTGTCTGGAAGATGCCGA	0.507																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	skin(2)|lung(1)											64	58	60					19																	56443411		2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.267C>A	19.37:g.56443411G>T	ENSP00000343891:p.Phe89Leu		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F89L	ENST00000342929.3	37	c.267	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012110	0.35511	.	.	ENSG00000173572	ENST00000342929	T	0.61742	0.08	1.97	-3.94	0.04130	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.44787	0.1310	L	0.46670	1.46	0.09310	N	1	B	0.29909	0.261	B	0.33392	0.163	T	0.39722	-0.9600	9	0.46703	T	0.11	.	4.9398	0.13960	0.2277:0.1964:0.5759:0.0	.	89	Q86W25	NAL13_HUMAN	L	89	ENSP00000343891:F89L	ENSP00000343891:F89L	F	-	3	2	NLRP13	61135223	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.504000	0.02275	-1.142000	0.02869	0.591000	0.81541	TTC	NLRP13	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000173572		0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1		0	58	0	G	NM_176810		56443411	-1			no_errors	ENST00000342929	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	56443411	G	T	56443411	3	4	13	1	0	0	0	0	1	0	0	0	10514	1165	41	3	2906	3	NLRP13	19	56443411	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	704790	56443411	2685572	622	4168											
ZNF772	400720	genome.wustl.edu	37	chr19	57984884	57984884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaaagaacttcccacatgCgatgcactcataaggccttg	12	9	8	12	1	1	1	1	0	0	1	2	2	2	1	2	1	3	2	2	1	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:57984884C>T	ENST00000343280.4	-	5	1488	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Missense_Mutation_p.A298T|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.A369T|AC004076.9_ENST00000596831.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TTCCCACATGCGATGCACTCA	0.418																																					Melanoma(5;289 436 14293 15924 30817)												0													128	114	119					19																	57984884		2203	4300	6503	SO:0001583	missense	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1228G>A	19.37:g.57984884C>T	ENSP00000341165:p.Ala410Thr		A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A410T	ENST00000343280.4	37	c.1228	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405653	0.62288	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	T;T;T	0.07567	3.18;3.18;3.18	3.72	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.03084	-0.415	0.34007	D	0.651021	B;P;D	0.76494	0.401;0.665;0.999	B;B;D	0.83275	0.073;0.12;0.996	T	0.37197	-0.9716	9	0.87932	D	0	.	9.3404	0.38076	0.0:0.8855:0.0:0.1145	.	298;369;410	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	T	410;298;369;335	ENSP00000341165:A410T;ENSP00000395967:A298T;ENSP00000348992:A369T	ENSP00000291809:A335T	A	-	1	0	ZNF772	62676696	0.000000	0.05858	1.000000	0.80357	0.913000	0.54294	-0.320000	0.08028	1.917000	0.55516	0.305000	0.20034	GCA	ZNF772	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197128		0.418	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1	-	0	72	0	C	NM_001024596		57984884	-1	tier1	-	no_errors	ENST00000343280	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.498	T	T	57984884	C	T	57984884	3	4	13	1	0	0	0	0	1	0	0	0	18193	768	27	1	245	1	ZNF772	19	57984884	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1541473	57984884	1144099	623	4169											
SLC27A5	10998	genome.wustl.edu	37	chr19	59022820	59022820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggctccccggcacacaggCtcgcagggtcacccagctca	8	5	11	17	2	2	0	2	0	0	0	4	0	3	0	3	4	1	5	3	4	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr19:59022820C>A	ENST00000263093.2	-	1	612	c.503G>T	c.(502-504)aGc>aTc	p.S168I	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	168					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGCACACAGGCTCGCAGGGTC	0.692																																																	0													12	11	11					19																	59022820		2176	4276	6452	SO:0001583	missense	0			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"Acyl-CoA synthetase family", "Solute carriers"	10999	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 3"	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.503G>T	19.37:g.59022820C>A	ENSP00000263093:p.Ser168Ile		B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S168I	ENST00000263093.2	37	c.503	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	7.228	0.598761	0.13939	.	.	ENSG00000083807	ENST00000263093	T	0.53857	0.6	3.78	0.133	0.14766	AMP-dependent synthetase/ligase (1);	0.902255	0.09446	N	0.801112	T	0.28699	0.0711	N	0.11927	0.2	0.09310	N	1	B	0.17465	0.022	B	0.15870	0.014	T	0.18745	-1.0327	10	0.45353	T	0.12	-5.6423	2.179	0.03869	0.2074:0.4922:0.1854:0.115	.	168	Q9Y2P5	S27A5_HUMAN	I	168	ENSP00000263093:S168I	ENSP00000263093:S168I	S	-	2	0	SLC27A5	63714632	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.291000	0.08343	0.022000	0.15160	0.455000	0.32223	AGC	SLC27A5	-	pfam_AMP-dep_Synth/Lig	ENSG00000083807		0.692	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	-	0	73	0	C	NM_012254		59022820	-1	tier1	-	no_errors	ENST00000263093	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.000	A	A	59022820	C	A	59022820	3	1	13	1	0	0	0	0	1	0	0	0	14574	797	28	3	1609	3	SLC27A5	19	59022820	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1037936	59022820	106163	624	4170											
TRIB3	57761	genome.wustl.edu	37	chr20	377156	377156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccttcgtcgggagcCagctgaacggctcacagcca	7	7	11	16	3	1	1	1	1	0	0	4	2	2	2	4	2	5	2	4	2	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:377156C>T	ENST00000217233.3	+	4	1452	c.899C>T	c.(898-900)cCa>cTa	p.P300L	TRIB3_ENST00000422053.2_Missense_Mutation_p.P327L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CGTCGGGAGCCAGCTGAACGG	0.687																																					Melanoma(101;421 2374 19538)												0													44	43	43					20																	377156		2201	4293	6494	SO:0001583	missense	0			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.899C>T	20.37:g.377156C>T	ENSP00000217233:p.Pro300Leu		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.P327L	ENST00000217233.3	37	c.980	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	C	30	5.055971	0.93793	.	.	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.33216	1.42;1.42	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000164	T	0.72534	0.3472	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.84124	0.0408	10	0.87932	D	0	-15.8611	16.3235	0.82964	0.0:1.0:0.0:0.0	.	327;300	B4DMM9;Q96RU7	.;TRIB3_HUMAN	L	300;327	ENSP00000217233:P300L;ENSP00000415416:P327L	ENSP00000217233:P300L	P	+	2	0	TRIB3	325156	1.000000	0.71417	0.961000	0.40146	0.935000	0.57460	7.651000	0.83577	2.712000	0.92718	0.650000	0.86243	CCA	TRIB3	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000101255		0.687	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	-	0	33	0	C	NM_021158		377156	1	tier1	-	no_errors	ENST00000422053	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	T	T	377156	C	T	377156	3	4	13	1	0	0	0	0	1	0	0	0	16532	594	21	3	909	3	TRIB3	20	377156	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09		377156	62648364	625	4171											
VPS16	64601	genome.wustl.edu	37	chr20	2845630	2845630	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtctttatagcgtattGaggggcgagtagcagctctg	7	14	13	7	2	3	1	0	1	3	0	3	2	3	1	0	2	3	4	0	2	4	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:2845630G>T	ENST00000380445.3	+	20	2005	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	VPS16_ENST00000380443.3_Nonsense_Mutation_p.E331*|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Nonsense_Mutation_p.E501*	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	645					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATAGCGTATTGAGGGGCGAGT	0.567																																																	0													85	81	83					20																	2845630		2203	4300	6503	SO:0001587	stop_gained	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1933G>T	20.37:g.2845630G>T	ENSP00000369810:p.Glu645*		Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Nonsense_Mutation	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.E645*	ENST00000380445.3	37	c.1933	CCDS13036.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.187117	0.94923	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000380443	.	.	.	4.89	4.89	0.63831	.	0.050872	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-26.8039	13.9142	0.63887	0.0:0.0:1.0:0.0	.	.	.	.	X	645;501;331	.	ENSP00000369808:E331X	E	+	1	0	VPS16	2793630	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	6.236000	0.72339	2.429000	0.82318	0.655000	0.94253	GAG	VPS16	-	pfam_Vps16_C,pirsf_VPS16	ENSG00000215305		0.567	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	-	0	81	0	G	NM_022575		2845630	1	tier1	-	no_errors	ENST00000380445	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.999	T	T	2845630	G	T	2845630	4	4	13	1	0	0	0	0	0	1	0	0	17242	1291	45	3	2011	3	VPS16	20	2845630	Nonsense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2468474	2845630	60179890	626	4172											
PLCB1	23236	genome.wustl.edu	37	chr20	8630090	8630090	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggcttgtagtcttccatcTtcaagggtgagcatgtgtgt	7	14	13	7	0	3	1	1	1	2	0	4	2	4	1	1	2	1	3	1	2	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:8630090T>G	ENST00000338037.6	+	7	615	c.588T>G	c.(586-588)tcT>tcG	p.S196S	PLCB1_ENST00000378637.2_Silent_p.S196S|PLCB1_ENST00000378641.3_Silent_p.S196S	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	196					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTCTTCCATCTTCAAGGGTGA	0.423																																																	0													177	157	164					20																	8630090		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.588T>G	20.37:g.8630090T>G			D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S196	ENST00000338037.6	37	c.588	CCDS13102.1	20																																																																																			PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0	51	0	T			8630090	1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.996	G	G	8630090	T	G	8630090	2	3	13	1	0	0	0	0	0	0	0	1	12066	1596	56	4		4	PLCB1	20	8630090	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	5784460	8630090	54395430	627	4173											
ZNF133	7692	genome.wustl.edu	37	chr20	18296340	18296340	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacgaggctttaaccggaAgtcaacgctaatcatacacg	13	8	10	10	4	2	0	2	0	0	0	2	3	2	2	1	3	3	2	1	3	5	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:18296340A>T	ENST00000316358.4	+	4	942	c.845A>T	c.(844-846)aAg>aTg	p.K282M	ZNF133_ENST00000401790.1_Missense_Mutation_p.K282M|ZNF133_ENST00000538547.1_Missense_Mutation_p.K187M|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000535822.1_Missense_Mutation_p.K187M|ZNF133_ENST00000402618.2_Missense_Mutation_p.K219M|ZNF133_ENST00000377671.3_Missense_Mutation_p.K281M|ZNF133_ENST00000396026.3_Missense_Mutation_p.K285M|ZNF133_ENST00000462170.1_3'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	282					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TTTAACCGGAAGTCAACGCTA	0.532																																																	0													83	69	74					20																	18296340		2203	4300	6503	SO:0001583	missense	0			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"Zinc fingers, C2H2-type", "-"	12917	protein-coding gene	gene with protein product		604075	"zinc finger protein 150 (pHZ-66)", "zinc finger protein 133 (clone pHZ-13)"	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.845A>T	20.37:g.18296340A>T	ENSP00000346090:p.Lys282Met		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K285M	ENST00000316358.4	37	c.854		20	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598000	0.28445	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.35973	2.3;2.3;1.28;2.3;1.28;1.28;2.3	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000182	T	0.53302	0.1788	M	0.75447	2.3	0.25509	N	0.987473	D;D;D;D	0.76494	0.999;0.994;0.997;0.998	D;P;D;D	0.68943	0.959;0.851;0.914;0.961	T	0.48234	-0.9053	10	0.72032	D	0.01	-35.2524	6.5733	0.22551	0.8956:0.0:0.1044:0.0	.	219;285;282;281	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	M	281;285;219;282;187;187;282	ENSP00000366899:K281M;ENSP00000400897:K285M;ENSP00000385279:K219M;ENSP00000383945:K282M;ENSP00000442978:K187M;ENSP00000439427:K187M;ENSP00000346090:K282M	ENSP00000346090:K282M	K	+	2	0	ZNF133	18244340	0.000000	0.05858	1.000000	0.80357	0.057000	0.15508	-1.032000	0.03574	2.154000	0.67381	0.459000	0.35465	AAG	ZNF133	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125846		0.532	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	-	0	60	0	A	NM_003434		18296340	1	tier1	-	no_errors	ENST00000396026	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.849	T	T	18296340	A	T	18296340	3	4	13	1	0	0	0	0	1	0	0	0	17771	72	3	5	852	5	ZNF133	20	18296340	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	9666250	18296340	44729180	628	4174											
SLC24A3	57419	genome.wustl.edu	37	chr20	19673907	19673907	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttcatttttccagcgggTaaactggaaacagtgaaatg	12	14	9	6	1	1	1	1	1	0	0	2	2	2	2	1	2	3	1	1	2	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:19673907T>A	ENST00000328041.6	+	13	1526	c.1329T>A	c.(1327-1329)ggT>ggA	p.G443G	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000598694.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	443					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCAGCGGGTAAACTGGAAA	0.428											OREG0025804	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	66	66					20																	19673907		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1329T>A	20.37:g.19673907T>A		735	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.G443	ENST00000328041.6	37	c.1329	CCDS13140.1	20																																																																																			SLC24A3	-	tigrfam_K/Na/Ca-exchanger	ENSG00000185052		0.428	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	-	0	84	0	T	NM_020689		19673907	1	tier1	-	no_errors	ENST00000328041	ensembl	human	known	74_37	silent	6.32	88	6	SNP	0.909	A	A	19673907	T	A	19673907	2	1	13	1	0	0	0	0	0	0	0	1	14512	1625	57	5		5	SLC24A3	20	19673907	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	1377567	19673907	43351613	629	4175											
CRNKL1	51340	genome.wustl.edu	37	chr20	20020401	20020401	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggaacttttcataaagcTtccggcatctgtcaaattct	11	13	6	11	1	4	0	2	0	2	0	5	1	5	1	2	2	2	2	2	2	4	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:20020401T>G	ENST00000377340.2	-	12	1911	c.1880A>C	c.(1879-1881)aAg>aCg	p.K627T	CRNKL1_ENST00000377327.4_Missense_Mutation_p.K615T|CRNKL1_ENST00000536226.1_Missense_Mutation_p.K466T|CRNKL1_ENST00000521379.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	627	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTCATAAAGCTTCCGGCATCT	0.378																																																	0													86	89	88					20																	20020401		2203	4300	6503	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1880A>C	20.37:g.20020401T>G	ENSP00000366557:p.Lys627Thr		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.K627T	ENST00000377340.2	37	c.1880	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	T	14.19	2.462180	0.43736	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.33654	1.4;1.4;1.4	5.97	4.87	0.63330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.041201	0.85682	D	0.000000	T	0.24275	0.0588	N	0.25094	0.71	0.80722	D	1	B	0.19200	0.034	B	0.20955	0.032	T	0.06215	-1.0839	10	0.23891	T	0.37	-31.6191	11.5173	0.50529	0.0:0.0694:0.0:0.9306	.	627	Q9BZJ0	CRNL1_HUMAN	T	615;627;466	ENSP00000366544:K615T;ENSP00000366557:K627T;ENSP00000440733:K466T	ENSP00000366544:K615T	K	-	2	0	CRNKL1	19968401	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.288000	0.72679	2.285000	0.76669	0.477000	0.44152	AAG	CRNKL1	-	smart_HAT	ENSG00000101343		0.378	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0	115	0	T			20020401	-1	tier1	-	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	5.26	90	5	SNP	1.000	G	G	20020401	T	G	20020401	3	3	13	1	0	0	0	0	1	0	0	0	3898	1609	56	4	682	4	CRNKL1	20	20020401	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	346494	20020401	43005119	630	4176											
DEFB124	245937	genome.wustl.edu	37	chr20	30053340	30053340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcttggggaccggtggaGgtttcaatgcataggagaga	10	9	16	6	1	1	1	1	0	0	1	1	5	1	4	1	6	2	3	1	6	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:30053340G>A	ENST00000317676.2	-	2	184	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124	62					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACCGGTGGAGGTTTCAATGC	0.527																																																	0													134	117	123					20																	30053340		2203	4300	6503	SO:0001583	missense	0			DQ119827	CCDS33457.1	20q11.1	2008-07-17			ENSG00000180383	ENSG00000180383		"Defensins, beta"	18104	protein-coding gene	gene with protein product	"defensin, beta 24"					11854508, 16033865	Standard	NM_001037500		Approved	DEFB-24	uc002wvz.1	Q8NES8	OTTHUMG00000159287	ENST00000317676.2:c.185C>T	20.37:g.30053340G>A	ENSP00000326309:p.Pro62Leu		Q30E74	Missense_Mutation	SNP	NULL	p.P62L	ENST00000317676.2	37	c.185	CCDS33457.1	20	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575911	0.28092	.	.	ENSG00000180383	ENST00000317676	T	0.11495	2.77	4.14	3.18	0.36537	.	0.262010	0.27821	N	0.017703	T	0.09512	0.0234	.	.	.	0.19300	N	0.999977	B	0.30793	0.295	B	0.31686	0.134	T	0.20672	-1.0268	9	0.56958	D	0.05	-1.9017	10.0014	0.41931	0.0:0.2054:0.7946:0.0	.	62	Q8NES8	DB124_HUMAN	L	62	ENSP00000326309:P62L	ENSP00000326309:P62L	P	-	2	0	DEFB124	29517001	0.034000	0.19679	0.055000	0.19348	0.009000	0.06853	1.587000	0.36622	1.313000	0.45069	0.637000	0.83480	CCT	DEFB124	-	NULL	ENSG00000180383		0.527	DEFB124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB124	HGNC	protein_coding	OTTHUMT00000354416.1	-	0	74	0	G	NM_001037500		30053340	-1	tier1	-	no_errors	ENST00000317676	ensembl	human	known	74_37	missense	11.93	96	13	SNP	0.066	A	A	30053340	G	A	30053340	3	1	13	1	0	0	0	0	1	0	0	0	4423	1000	35	3	34	3	DEFB124	20	30053340	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	10032939	30053340	32972180	631	4177											
EIF6	10893	genome.wustl.edu	37	chr20	33867427	33867427	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaggctgggcttcattcaGcttgaagacactctccacca	9	10	9	13	0	3	2	2	1	1	1	4	2	3	2	2	2	1	4	2	2	2	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:33867427G>T	ENST00000246186.6	+	0	4412				MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EIF6_ENST00000462894.1_5'Flank|MMP24-AS1_ENST00000433764.1_RNA|EIF6_ENST00000374450.3_Missense_Mutation_p.L224M|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|EDEM2_ENST00000540582.1_5'Flank|EIF6_ENST00000374436.3_Missense_Mutation_p.L224M|EIF6_ENST00000374443.3_Missense_Mutation_p.L205M|MMP24-AS1_ENST00000424358.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GCTTCATTCAGCTTGAAGACA	0.562																																																	0													245	203	218					20																	33867427		2203	4300	6503	SO:0001628	intergenic_variant	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330		20.37:g.33867427G>T			B7ZBG8|Q9H440	Missense_Mutation	SNP	pfam_eIF6,smart_eIF6,pirsf_eIF6,tigrfam_eIF6	p.L224M	ENST00000246186.6	37	c.670	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046309	0.75846	.	.	ENSG00000242372	ENST00000374436;ENST00000374443;ENST00000374450	.	.	.	5.25	4.3	0.51218	.	0.075317	0.56097	D	0.000035	D	0.84804	0.5553	M	0.92880	3.355	0.54753	D	0.999985	D;D	0.89917	1.0;0.968	D;P	0.80764	0.994;0.9	D	0.88367	0.2992	9	0.87932	D	0	-29.3858	13.4004	0.60879	0.0765:0.0:0.9234:0.0	.	205;224	B7ZBG9;P56537	.;IF6_HUMAN	M	224;205;224	.	ENSP00000363559:L224M	L	-	1	2	EIF6	33330841	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.434000	0.52841	1.367000	0.46095	0.555000	0.69702	CTG	EIF6	-	pirsf_eIF6,tigrfam_eIF6	ENSG00000242372		0.562	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078851.4	-	0	57	0	G	NM_006690		33867427	-1	tier1	-	no_errors	ENST00000374436	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	T	T	33867427	G	T	33867427	1	4	13	0	1	0	0	0	0	0	0	0	5061	962	34	3		3	EIF6	20	33867427	IGR	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3814087	33867427	29158093	632	4178											
KIAA1755	85449	genome.wustl.edu	37	chr20	36869850	36869850	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccaaactctgggcaggaAgcacctggttgtctggggag	8	8	16	9	0	2	0	0	0	2	0	2	2	2	2	2	6	2	3	2	6	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:36869850A>T	ENST00000279024.4	-	3	954	c.683T>A	c.(682-684)cTt>cAt	p.L228H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	228										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGGGCAGGAAGCACCTGGTT	0.592																																																	0													101	94	96					20																	36869850		2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.683T>A	20.37:g.36869850A>T	ENSP00000279024:p.Leu228His		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.L228H	ENST00000279024.4	37	c.683	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	A	7.472	0.646827	0.14516	.	.	ENSG00000149633	ENST00000279024	T	0.06068	3.35	5.46	4.37	0.52481	.	0.657852	0.13377	N	0.392401	T	0.14184	0.0343	M	0.65975	2.015	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.16482	-1.0401	10	0.66056	D	0.02	.	6.3853	0.21558	0.8118:0.0:0.1882:0.0	.	228	Q5JYT7	K1755_HUMAN	H	228	ENSP00000279024:L228H	ENSP00000279024:L228H	L	-	2	0	KIAA1755	36303264	0.001000	0.12720	0.037000	0.18230	0.108000	0.19459	0.676000	0.25247	1.102000	0.41551	0.533000	0.62120	CTT	KIAA1755	-	NULL	ENSG00000149633		0.592	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0	62	0	A	NM_001029864		36869850	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	45.95	59	51	SNP	0.051	T	T	36869850	A	T	36869850	3	4	13	1	0	0	0	0	1	0	0	0	8284	72	3	5	2967	5	KIAA1755	20	36869850	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	3002423	36869850	26155670	633	4179											
SLC12A5	57468	genome.wustl.edu	37	chr20	44685162	44685162	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaataagggccccagtccTgtctcctctgagggcatcaa	11	8	10	12	0	3	2	1	1	2	1	5	2	4	2	4	2	0	1	4	2	4	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:44685162T>A	ENST00000454036.2	+	23	3187	c.3138T>A	c.(3136-3138)ccT>ccA	p.P1046P	SLC12A5_ENST00000243964.3_Silent_p.P1023P	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1046					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCCCAGTCCTGTCTCCTCTG	0.612																																																	0													53	50	51					20																	44685162		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3138T>A	20.37:g.44685162T>A			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P1046	ENST00000454036.2	37	c.3138	CCDS46610.1	20																																																																																			SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.612	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	102	0	T			44685162	1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	40.57	63	43	SNP	0.001	A	A	44685162	T	A	44685162	2	1	13	1	0	0	0	0	0	0	0	1	14431	1567	55	5		5	SLC12A5	20	44685162	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	7815312	44685162	18340358	634	4180											
SNAI1	6615	genome.wustl.edu	37	chr20	48604467	48604467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctgaccgctccaacctGcgggcccacctccagaccca	7	6	8	20	3	0	2	0	1	0	1	3	2	2	2	7	1	2	2	7	1	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:48604467G>A	ENST00000244050.2	+	3	730	c.669G>A	c.(667-669)ctG>ctA	p.L223L		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	223	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCTCCAACCTGCGGGCCCACC	0.627																																																	0													114	97	103					20																	48604467		2203	4300	6503	SO:0001819	synonymous_variant	0			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"Snail homologs", "Zinc fingers, C2H2-type"	11128	protein-coding gene	gene with protein product		604238	"snail 1 (drosophila homolog), zinc finger protein", "snail homolog 1 (Drosophila)"			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.669G>A	20.37:g.48604467G>A			B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L223	ENST00000244050.2	37	c.669	CCDS13423.1	20																																																																																			SNAI1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124216		0.627	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	HGNC	protein_coding	OTTHUMT00000080350.1		0	68	0	G			48604467	1			no_errors	ENST00000244050	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.993	A	A	48604467	G	A	48604467	2	1	13	1	0	0	0	0	0	0	0	1	14871	1306	46	3		3	SNAI1	20	48604467	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3919305	48604467	14421053	635	4181											
PSMA7	5688	genome.wustl.edu	37	chr20	60711998	60711998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttctcaatttcttcaggaTttaaaatctatagaaaaaaa	18	14	3	6	0	4	1	2	0	3	1	5	2	4	2	0	1	0	0	0	1	8	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:60711998T>C	ENST00000370873.4	-	7	788	c.662A>G	c.(661-663)aAt>aGt	p.N221S	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Missense_Mutation_p.N151S	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	221					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TTCTTCAGGATTTAAAATCTA	0.393											OREG0026105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	90	90					20																	60711998		2203	4300	6503	SO:0001583	missense	0			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"Proteasome (prosome, macropain) subunits"	9536	protein-coding gene	gene with protein product	"proteasome subunit XAPC7", "proteasome subunit RC6-1"	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.662A>G	20.37:g.60711998T>C	ENSP00000359910:p.Asn221Ser	1048	B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.N221S	ENST00000370873.4	37	c.662	CCDS13489.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	2.972|2.972	-0.212276|-0.212276	0.06140|0.06140	.|.	.|.	ENSG00000101182|ENSG00000101182	ENST00000442551|ENST00000370873;ENST00000370861	.|T;T	.|0.39406	.|1.08;1.08	5.43|5.43	1.89|1.89	0.25635|0.25635	.|.	.|0.297967	.|0.41294	.|N	.|0.000909	T|T	0.15219|0.15219	0.0367|0.0367	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.29305|0.29305	-1.0016|-1.0016	5|10	.|0.02654	.|T	.|1	.|.	9.2126|9.2126	0.37328|0.37328	0.0:0.2937:0.0:0.7063|0.0:0.2937:0.0:0.7063	.|.	.|221	.|O14818	.|PSA7_HUMAN	V|S	160|221;151	.|ENSP00000359910:N221S;ENSP00000359898:N151S	.|ENSP00000359898:N151S	I|N	-|-	1|2	0|0	PSMA7|PSMA7	60145393|60145393	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	1.329000|1.329000	0.33770|0.33770	0.052000|0.052000	0.16007|0.16007	0.529000|0.529000	0.55759|0.55759	ATC|AAT	PSMA7	-	NULL	ENSG00000101182		0.393	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA7	HGNC	protein_coding	OTTHUMT00000079975.1	-	0	95	0	T	NM_002792		60711998	-1	tier1	-	no_errors	ENST00000370873	ensembl	human	known	74_37	missense	52.00	60	65	SNP	1.000	C	C	60711998	T	C	60711998	3	2	13	1	0	0	0	0	1	0	0	0	12714	1493	52	4	88	4	PSMA7	20	60711998	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	12107531	60711998	2313522	636	4182											
PRPF6	57473	genome.wustl.edu	37	chr20	62660787	62660787	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagaggaggaccaagaGcgtggatgccctgaagaagt	12	4	15	10	1	0	4	0	1	0	3	0	7	0	7	4	3	2	0	4	3	3	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr20:62660787G>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.S790I|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGACCAAGAGCGTGGATGCC	0.562																																																	0													119	111	113					20																	62660787		2203	4300	6503	SO:0001627	intron_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19270C>A	20.37:g.62660787G>T			Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.S830I	ENST00000450537.1	37	c.2489	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969511	0.92855	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.33865	1.39;1.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.91635	0.945;0.999	T	0.65878	-0.6061	10	0.42905	T	0.14	-20.9321	19.2366	0.93862	0.0:0.0:1.0:0.0	.	790;830	O94906-2;O94906	.;PRP6_HUMAN	I	830;790	ENSP00000266079:S830I;ENSP00000446216:S790I	ENSP00000266079:S830I	S	+	2	0	PRPF6	62131231	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	9.692000	0.98682	2.626000	0.88956	0.655000	0.94253	AGC	PRPF6	-	NULL	ENSG00000101161		0.562	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	-	0	105	0	G	NM_020713		62660787	1	tier1	-	no_errors	ENST00000266079	ensembl	human	known	74_37	missense	8.33	121	11	SNP	1.000	T	T	62660787	G	T	62660787	1	4	13	0	1	0	0	0	0	0	0	0	12616	971	34	3		3	PRPF6	20	62660787	Intron	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1948789	62660787	364733	637	4183											
LIPI	149998	genome.wustl.edu	37	chr21	15517060	15517060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgaaatatttacaaaGtcattataaaattgagcaag	18	13	6	4	0	1	2	1	2	0	0	1	2	1	2	0	0	3	2	0	0	8	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:15517060G>C	ENST00000536861.1	-	9	1178	c.1179C>G	c.(1177-1179)gaC>gaG	p.D393E	AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000428809.1_RNA|LIPI_ENST00000344577.2_Missense_Mutation_p.D414E			Q6XZB0	LIPI_HUMAN	lipase, member I	393					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TATTTACAAAGTCATTATAAA	0.313																																																	0													59	63	61					21																	15517060		2202	4297	6499	SO:0001583	missense	0			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.1179C>G	21.37:g.15517060G>C	ENSP00000440381:p.Asp393Glu		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.D414E	ENST00000536861.1	37	c.1242		21	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458790	0.26248	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.91996	-2.95;-2.88	5.34	-2.26	0.06867	.	0.048391	0.85682	D	0.000000	D	0.93324	0.7872	M	0.68593	2.085	0.09310	N	1	D	0.76494	0.999	D	0.70016	0.967	D	0.87420	0.2381	10	0.42905	T	0.14	.	10.3667	0.44028	0.5384:0.0:0.4616:0.0	.	414	Q6XZB0-2	.	E	414;393	ENSP00000343331:D414E;ENSP00000440381:D393E	ENSP00000343331:D414E	D	-	3	2	LIPI	14438931	0.703000	0.27826	0.326000	0.25389	0.282000	0.26991	0.368000	0.20399	-0.250000	0.09555	-0.312000	0.09012	GAC	LIPI	-	pirsf_Lipoprotein_lipase_LIPH	ENSG00000188992		0.313	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding		-	0	100	0	G	NM_198996		15517060	-1	tier1	-	no_errors	ENST00000344577	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.178	C	C	15517060	G	C	15517060	3	2	13	1	0	0	0	0	1	0	0	0	8855	1020	36	5	211	5	LIPI	21	15517060	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		15517060	32612835	638	4184											
C21orf91	54149	genome.wustl.edu	37	chr21	19168961	19168963	+	In_Frame_Del	DEL	TCT	TCT	-																															cctctggactagagattgtcTcttcttttttctgtgcctgg																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:19168961_19168963delTCT	ENST00000400558.3	-	3	690_692	c.600_602delAGA	c.(598-603)gaagag>gag	p.200_201EE>E	C21orf91_ENST00000493464.1_5'Flank|AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_In_Frame_Del_p.200_201EE>E|C21orf91_ENST00000284881.4_In_Frame_Del_p.200_201EE>E	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGAGATTGTCTCTTCTTTTTTCT	0.419																																																	0																																										SO:0001651	inframe_deletion	0			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"cold sore susceptibility gene 1", "early undifferentiated retina and lens"		"chromosome 21 open reading frame 38"	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.600_602delAGA	21.37:g.19168964_19168966delTCT	ENSP00000383403:p.Glu201del			In_Frame_Del	DEL	pfam_EURL_prot	p.E201in_frame_del	ENST00000400558.3	37	c.602_600	CCDS42909.1	21																																																																																			C21orf91	-	pfam_EURL_prot	ENSG00000154642		0.419	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	C21orf91	HGNC	protein_coding	OTTHUMT00000158214.1		0	35	0	TCT	NM_017447		19168963	-1	tier1		no_errors	ENST00000284881	ensembl	human	known	74_37	in_frame_del	24.49	37	12	DEL	0.946:0.984:0.998	-	-	19168963	TCT	-	19168961	7	5	13	1	0	1	0	1	0	0	0	0	2141	1551	54	0	303	0	C21orf91	21	19168961	In_Frame_Del	DEL	TCT	TCGA-IC-A6RE-01A-11D-A33E-09	3651901	19168961	28960934	639	4185											
APP	351	genome.wustl.edu	37	chr21	27347420	27347420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcggtgatgtagttcTccagggccaggcggcggcgg	6	6	19	10	4	1	2	0	1	1	1	2	2	1	2	2	6	1	3	2	6	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:27347420T>C	ENST00000346798.3	-	11	1454	c.1421A>G	c.(1420-1422)gAg>gGg	p.E474G	APP_ENST00000448388.2_Missense_Mutation_p.E364G|APP_ENST00000348990.5_Missense_Mutation_p.E399G|APP_ENST00000359726.3_Missense_Mutation_p.E418G|APP_ENST00000440126.3_Missense_Mutation_p.E450G|APP_ENST00000354192.3_Missense_Mutation_p.E343G|APP_ENST00000357903.3_Missense_Mutation_p.E455G|APP_ENST00000439274.2_Missense_Mutation_p.E418G|APP_ENST00000358918.3_Missense_Mutation_p.E474G	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	474					adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GATGTAGTTCTCCAGGGCCAG	0.597																																																	0													98	73	81					21																	27347420		2203	4300	6503	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.1421A>G	21.37:g.27347420T>C	ENSP00000284981:p.Glu474Gly		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E474G	ENST00000346798.3	37	c.1421	CCDS13576.1	21	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628796	0.87560	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.12	4.12	0.48240	Amyloidogenic glycoprotein, E2 domain (2);	0.099977	0.64402	D	0.000002	T	0.69278	0.3093	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.994;1.0;0.993;0.993;1.0	D;D;D;D;D;D;D	0.73708	0.972;0.95;0.969;0.953;0.947;0.947;0.981	T	0.75488	-0.3300	10	0.87932	D	0	-20.1901	13.825	0.63346	0.0:0.0:0.0:1.0	.	364;418;450;343;399;455;474	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	G	474;343;399;455;474;418;364;450;418;61	ENSP00000284981:E474G;ENSP00000346129:E343G;ENSP00000345463:E399G;ENSP00000350578:E455G;ENSP00000351796:E474G;ENSP00000352760:E418G;ENSP00000388538:E364G;ENSP00000387483:E450G;ENSP00000398879:E418G;ENSP00000397795:E61G	ENSP00000284981:E474G	E	-	2	0	APP	26269291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.482000	0.81143	2.096000	0.63516	0.383000	0.25322	GAG	APP	-	superfamily_Amyloid_glyco_E2_domain	ENSG00000142192		0.597	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0	61	0	T	NM_000484		27347420	-1	tier1	-	no_errors	ENST00000346798	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	C	C	27347420	T	C	27347420	3	2	13	1	0	0	0	0	1	0	0	0	815	1551	54	4	923	4	APP	21	27347420	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	8178459	27347420	20782475	640	4186											
TIAM1	7074	genome.wustl.edu	37	chr21	32503209	32503209	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaacataagatgtcttacaAgtttcttcttctgtttggaa	11	17	7	6	0	4	1	0	0	4	1	4	2	4	2	0	1	2	3	0	1	5	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:32503209A>C	ENST00000286827.3	-	25	4412	c.3941T>G	c.(3940-3942)cTt>cGt	p.L1314R	TIAM1_ENST00000541036.1_Splice_Site_p.L1254R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1314	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGTCTTACAAGTTTCTTCTT	0.343																																																	0													150	136	140					21																	32503209		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3942+1T>G	21.37:g.32503209A>C			B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L1314R	ENST00000286827.3	37	c.3941	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421478	0.83559	.	.	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.51574	0.7;0.7	5.91	5.91	0.95273	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.063133	0.64402	D	0.000005	T	0.51363	0.1670	L	0.48642	1.525	0.80722	D	1	D;P;P	0.52996	0.957;0.928;0.928	P;B;B	0.48227	0.571;0.367;0.367	T	0.55503	-0.8131	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1254;1254;1314	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	R	1314;1254	ENSP00000286827:L1314R;ENSP00000441570:L1254R	ENSP00000286827:L1314R	L	-	2	0	TIAM1	31425080	1.000000	0.71417	0.987000	0.45799	0.937000	0.57800	8.129000	0.89597	2.254000	0.74563	0.533000	0.62120	CTT	TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.343	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	48	0	A	NM_003253	Missense_Mutation	32503209	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	43.28	38	29	SNP	1.000	C	C	32503209	A	C	32503209	5	2	13	1	0	0	0	0	0	0	1	0	15937	86	3	4	854	4	TIAM1	21	32503209	Splice_Site	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	5155789	32503209	15626686	641	4187											
GCFC1	94104	genome.wustl.edu	37	chr21	34134584	34134584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattctcgggccatttggcGctttttccttgcagcatgta	6	15	9	11	2	1	0	0	0	1	0	3	0	2	0	2	2	2	4	2	2	2	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:34134584G>T	ENST00000331923.4	-	4	883	c.694C>A	c.(694-696)Cgc>Agc	p.R232S	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.R232S	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	232					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCATTTGGCGCTTTTTCCTT	0.413																																																	0													65	65	65					21																	34134584		2203	4300	6503	SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.694C>A	21.37:g.34134584G>T	ENSP00000328992:p.Arg232Ser		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	pfam_GCFC_dom	p.R232S	ENST00000331923.4	37	c.694	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650134	0.87958	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.71579	-0.22;-0.58	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87546	0.2462	10	0.59425	D	0.04	-12.8813	14.521	0.67851	0.0:0.0:0.8533:0.1467	.	232;232	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	S	232	ENSP00000328992:R232S;ENSP00000290178:R232S	ENSP00000290178:R232S	R	-	1	0	GCFC1	33056455	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.125000	0.71627	2.752000	0.94435	0.557000	0.71058	CGC	PAXBP1	-	NULL	ENSG00000159086		0.413	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1	-	0	44	0	G	NM_013329		34134584	-1	tier1	-	no_errors	ENST00000331923	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	34134584	G	T	34134584	3	4	13	1	0	0	0	0	1	0	0	0	6314	1087	38	2	2237	2	GCFC1	21	34134584	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1631375	34134584	13995311	642	4188											
ITSN1	6453	genome.wustl.edu	37	chr21	35195800	35195800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccccaccagaatttattgCcatgtacacttacgagagtt	11	12	6	12	1	0	2	0	0	0	2	1	3	1	2	4	0	3	2	4	0	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:35195800C>T	ENST00000381318.3	+	25	3314	c.3026C>T	c.(3025-3027)gCc>gTc	p.A1009V	ITSN1_ENST00000399367.3_Missense_Mutation_p.A1004V|ITSN1_ENST00000381291.4_Missense_Mutation_p.A1009V|ITSN1_ENST00000399349.1_Intron|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.A967V|ITSN1_ENST00000437442.2_Missense_Mutation_p.A1004V|ITSN1_ENST00000399326.3_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.A1004V|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.A1009V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1009	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAATTTATTGCCATGTACACT	0.408																																																	0													114	106	109					21																	35195800		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3026C>T	21.37:g.35195800C>T	ENSP00000370719:p.Ala1009Val		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.A1009V	ENST00000381318.3	37	c.3026	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	C	35	5.425464	0.96131	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000437442	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06	6.03	6.03	0.97812	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.985;0.994	D;D;D;P;D	0.77004	0.984;0.989;0.989;0.877;0.934	T	0.76610	-0.2896	10	0.51188	T	0.08	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	972;1004;1004;1009;967	A7XZY7;A8CTY3;A8CTX8;Q15811;E7ERJ0	.;.;.;ITSN1_HUMAN;.	V	967;1009;1009;1009;1004;1004;1004;1004	ENSP00000382290:A967V;ENSP00000370719:A1009V;ENSP00000370691:A1009V;ENSP00000370685:A1009V;ENSP00000382301:A1004V;ENSP00000382289:A1004V;ENSP00000387377:A1004V	ENSP00000370685:A1009V	A	+	2	0	ITSN1	34117670	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	GCC	ITSN1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000205726		0.408	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0	82	0	C	NM_003024		35195800	1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	40.79	44	31	SNP	1.000	T	T	35195800	C	T	35195800	3	4	13	1	0	0	0	0	1	0	0	0	7953	739	26	3	3120	3	ITSN1	21	35195800	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1061216	35195800	12934095	643	4189											
ITSN1	6453	genome.wustl.edu	37	chr21	35229051	35229051	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttccagggtgttcagacTtacatctcttggatatgttg	7	17	10	7	0	2	1	1	0	1	1	4	2	3	2	1	2	1	3	1	2	2	7			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:35229051T>A	ENST00000381318.3	+	30	3961	c.3673T>A	c.(3673-3675)Tta>Ata	p.L1225I	ITSN1_ENST00000399367.3_Missense_Mutation_p.L1220I|ITSN1_ENST00000437442.2_Missense_Mutation_p.L1220I|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.L1225I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1225					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GTGTTCAGACTTACATCTCTT	0.498																																																	0													135	112	120					21																	35229051		2203	4300	6503	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3673T>A	21.37:g.35229051T>A	ENSP00000370719:p.Leu1225Ile		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.L1225I	ENST00000381318.3	37	c.3673	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220275	0.79464	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.21	0.0614	0.14340	Dbl homology (DH) domain (1);	0.000000	0.64402	D	0.000003	T	0.45155	0.1328	L	0.60455	1.87	0.80722	D	1	D;P;P	0.63046	0.992;0.887;0.887	D;P;P	0.71870	0.975;0.692;0.692	T	0.20840	-1.0263	10	0.46703	T	0.11	.	10.7127	0.45993	0.0:0.4251:0.0:0.5749	.	1220;1220;1225	A8CTY3;A8CTX8;Q15811	.;.;ITSN1_HUMAN	I	1225;1225;1154;1220;1220	ENSP00000370719:L1225I;ENSP00000370685:L1225I;ENSP00000382301:L1220I;ENSP00000387377:L1220I	ENSP00000370685:L1225I	L	+	1	2	ITSN1	34150921	0.997000	0.39634	0.950000	0.38849	0.996000	0.88848	0.733000	0.26087	-0.164000	0.10927	0.528000	0.53228	TTA	ITSN1	-	superfamily_DH-domain	ENSG00000205726		0.498	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0	108	0	T	NM_003024		35229051	1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	7.59	73	6	SNP	0.998	A	A	35229051	T	A	35229051	3	1	13	1	0	0	0	0	1	0	0	0	7953	1606	56	5	3793	5	ITSN1	21	35229051	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	33251	35229051	12900844	644	4190											
PWP2	5822	genome.wustl.edu	37	chr21	45539308	45539308	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtggcagagtgagtcCtacgtgctcaagcagcaggg	9	7	17	8	1	1	2	1	1	0	1	2	3	2	3	1	3	4	4	1	3	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:45539308C>G	ENST00000291576.7	+	10	1219	c.1092C>G	c.(1090-1092)tcC>tcG	p.S364S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	364					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGAGTGAGTCCTACGTGCTCA	0.667																																																	0													45	32	36					21																	45539308		2191	4297	6488	SO:0001819	synonymous_variant	0				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1092C>G	21.37:g.45539308C>G			B2RAG8|Q96A77	Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S364	ENST00000291576.7	37	c.1092	CCDS33579.1	21																																																																																			PWP2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000241945		0.667	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	-	0	95	0	C	NM_005049		45539308	1	tier1	-	no_errors	ENST00000291576	ensembl	human	known	74_37	silent	30.30	46	20	SNP	1.000	G	G	45539308	C	G	45539308	2	3	13	1	0	0	0	0	0	0	0	1	12889	668	24	5		5	PWP2	21	45539308	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	10310257	45539308	2590587	645	4191											
TRPM2	7226	genome.wustl.edu	37	chr21	45833815	45833815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcagccccaatggcaccGacccctacaagcctaagtgc	11	5	8	17	1	0	0	0	0	0	0	0	1	0	0	6	1	5	2	6	1	4	2	rs148308750		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:45833815G>A	ENST00000397928.1	+	20	3449	c.3004G>A	c.(3004-3006)Gac>Aac	p.D1002N	TRPM2_ENST00000300482.5_Missense_Mutation_p.D1002N|AP001065.2_ENST00000423310.1_RNA|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1002N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D982N	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1002					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAATGGCACCGACCCCTACAA	0.607																																																	0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	192	195	194		3004	3.9	0.8	21	dbSNP_134	194	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRPM2	NM_003307.3	23	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	1002/1504	45833815	2,13004	2203	4300	6503	SO:0001583	missense	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3004G>A	21.37:g.45833815G>A	ENSP00000381023:p.Asp1002Asn		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.D1002N	ENST00000397928.1	37	c.3004	CCDS13710.1	21	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061022	0.76074	2.27E-4	1.16E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	4.78	3.89	0.44902	Ion transport (1);	0.273467	0.33309	N	0.005050	T	0.71048	0.3294	L	0.41632	1.29	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.65987	0.94;0.94;0.94	T	0.66795	-0.5833	10	0.23891	T	0.37	-35.1395	13.139	0.59424	0.0786:0.0:0.9214:0.0	.	1002;788;1002	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	N	1002;1002;982;1002	ENSP00000300482:D1002N;ENSP00000381023:D1002N;ENSP00000300481:D982N;ENSP00000381026:D1002N	ENSP00000300481:D982N	D	+	1	0	TRPM2	44658243	1.000000	0.71417	0.817000	0.32601	0.889000	0.51656	4.293000	0.59037	1.135000	0.42183	0.591000	0.81541	GAC	TRPM2	-	pfam_Ion_trans_dom	ENSG00000142185		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1		0	68	0	G	NM_003307		45833815	1			no_errors	ENST00000300482	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.971	A	A	45833815	G	A	45833815	3	1	13	1	0	0	0	0	1	0	0	0	16634	1058	37	1	3082	1	TRPM2	21	45833815	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	294507	45833815	2296080	646	4192											
PCNT	5116	genome.wustl.edu	37	chr21	47783564	47783564	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgatgctacttgaactgaGagaaaaggctgaatccgaga	15	9	11	6	1	0	6	0	4	0	2	1	8	1	6	1	1	3	2	1	1	5	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr21:47783564G>C	ENST00000359568.5	+	14	2431	c.2324G>C	c.(2323-2325)aGa>aCa	p.R775T	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	775	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTGAACTGAGAGAAAAGGCT	0.453																																																	0													113	114	114					21																	47783564		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2324G>C	21.37:g.47783564G>C	ENSP00000352572:p.Arg775Thr		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.R775T	ENST00000359568.5	37	c.2324	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477790	0.26511	.	.	ENSG00000160299	ENST00000359568	T	0.25085	1.82	5.02	0.245	0.15512	.	0.235104	0.21991	N	0.066153	T	0.19927	0.0479	L	0.39898	1.24	0.09310	N	1	P;D	0.53151	0.557;0.958	B;P	0.45343	0.368;0.477	T	0.11616	-1.0580	10	0.44086	T	0.13	.	6.7049	0.23244	0.6646:0.0:0.3354:0.0	.	657;775	O95613-2;O95613	.;PCNT_HUMAN	T	775	ENSP00000352572:R775T	ENSP00000352572:R775T	R	+	2	0	PCNT	46607992	0.001000	0.12720	0.046000	0.18839	0.016000	0.09150	0.422000	0.21296	0.127000	0.18452	0.585000	0.79938	AGA	PCNT	-	NULL	ENSG00000160299		0.453	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0	84	0	G	NM_006031		47783564	1			no_errors	ENST00000359568	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.028	C	C	47783564	G	C	47783564	3	2	13	1	0	0	0	0	1	0	0	0	11629	942	33	5	2378	5	PCNT	21	47783564	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1949749	47783564	346331	647	4193											
LZTR1	8216	genome.wustl.edu	37	chr22	21346611	21346611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccgagatgtgtttggcctgGactttggcaccacctcagcc	6	10	11	14	1	1	1	1	0	0	1	1	3	1	2	5	3	1	2	5	3	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:21346611G>C	ENST00000215739.8	+	10	1461	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	LZTR1_ENST00000389355.3_Missense_Mutation_p.D349H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	368					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTTTGGCCTGGACTTTGGCAC	0.607																																																	0													89	84	86					22																	21346611		2203	4300	6503	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1102G>C	22.37:g.21346611G>C	ENSP00000215739:p.Asp368His		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.D368H	ENST00000215739.8	37	c.1102	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213650	0.39102	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.60548	0.73;0.18	5.21	4.15	0.48705	.	0.443136	0.22998	N	0.053119	T	0.35038	0.0918	N	0.08118	0	0.35573	D	0.805652	B;B;B;B	0.33637	0.0;0.02;0.42;0.216	B;B;B;B	0.28916	0.001;0.018;0.048;0.096	T	0.53187	-0.8474	10	0.62326	D	0.03	-30.1235	11.9661	0.53035	0.0:0.1735:0.8265:0.0	.	349;327;368;327	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	327;368;349	ENSP00000215739:D368H;ENSP00000374006:D349H	ENSP00000215739:D368H	D	+	1	0	LZTR1	19676611	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	3.455000	0.52993	2.440000	0.82611	0.456000	0.33151	GAC	LZTR1	-	NULL	ENSG00000099949		0.607	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	57	0	G	NM_006767		21346611	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	C	C	21346611	G	C	21346611	3	2	13	1	0	0	0	0	1	0	0	0	9173	1174	41	5	1140	5	LZTR1	22	21346611	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		21346611	29957955	648	4194											
HIC2	23119	genome.wustl.edu	37	chr22	21800741	21800741	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctacaaggacccagccacGctgcggcagcacgagaagac	13	2	11	15	3	0	2	0	0	0	2	0	4	0	3	3	2	4	3	3	2	3	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:21800741G>T	ENST00000443632.2	+	2	1929	c.1557G>T	c.(1555-1557)acG>acT	p.T519T	HIC2_ENST00000407464.2_Silent_p.T519T|HIC2_ENST00000407598.2_Silent_p.T519T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	519					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				ACCCAGCCACGCTGCGGCAGC	0.637																																					NSCLC(23;437 858 2282 27947 40366)												0													56	57	57					22																	21800741		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1557G>T	22.37:g.21800741G>T			Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T519	ENST00000443632.2	37	c.1557	CCDS13789.1	22																																																																																			HIC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169635		0.637	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2	-	0	105	0	G			21800741	1	tier1	-	no_errors	ENST00000407464	ensembl	human	known	74_37	silent	21.05	45	12	SNP	0.281	T	T	21800741	G	T	21800741	2	4	13	1	0	0	0	0	0	0	0	1	7129	1074	38	2		2	HIC2	22	21800741	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	454130	21800741	29503825	649	4195											
RGL4	266747	genome.wustl.edu	37	chr22	24036564	24036564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcaacaacttctcctcgGtgcacgtcatcgtctctgct	6	12	7	16	3	4	0	2	0	2	0	8	0	4	0	2	1	4	2	2	1	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:24036564G>T	ENST00000290691.5	+	5	2113	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L	AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.V179L|KB-1572G7.2_ENST00000421064.1_RNA|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	315	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTTCTCCTCGGTGCACGTCAT	0.582																																																	0													165	108	127					22																	24036564		2203	4300	6503	SO:0001583	missense	0				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"RalGDS related oncogene"	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.943G>T	22.37:g.24036564G>T	ENSP00000290691:p.Val315Leu		Q495L8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	p.V315L	ENST00000290691.5	37	c.943	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	g	0.027	-1.361471	0.01235	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.25912	1.77;1.77;1.77	1.91	-3.82	0.04281	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.929529	0.08900	N	0.877377	T	0.07818	0.0196	N	0.03967	-0.31	0.09310	N	1	B;B;B;B	0.27013	0.166;0.064;0.166;0.166	B;B;B;B	0.35073	0.097;0.055;0.195;0.195	T	0.21008	-1.0258	10	0.02654	T	1	.	0.214	0.00159	0.2772:0.1922:0.2793:0.2513	.	179;179;315;315	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	L	179;315;315;315	ENSP00000383951:V179L;ENSP00000290691:V315L;ENSP00000402142:V315L	ENSP00000290691:V315L	V	+	1	0	RGL4	22366564	0.505000	0.26131	0.000000	0.03702	0.002000	0.02628	0.719000	0.25881	-1.972000	0.01001	-0.491000	0.04670	GTG	RGL4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000159496		0.582	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	-	0	51	0	G	NM_153615		24036564	1	tier1	-	no_errors	ENST00000290691	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.005	T	T	24036564	G	T	24036564	3	4	13	1	0	0	0	0	1	0	0	0	13324	1261	44	3	961	3	RGL4	22	24036564	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2235823	24036564	27268002	650	4196											
SUSD2	56241	genome.wustl.edu	37	chr22	24581898	24581898	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccggcccccaagactggGtgggtgccatcccgtgcccc	5	6	12	18	2	0	1	0	0	0	1	1	1	1	1	7	3	3	0	7	3	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:24581898G>T	ENST00000358321.3	+	8	1600		c.e8+1			NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2						immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCAAGACTGGGTGGGTGCCAT	0.667																																																	0													13	15	14					22																	24581898		2188	4290	6478	SO:0001630	splice_region_variant	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1339+1G>T	22.37:g.24581898G>T			Q9H5Y6	Splice_Site	SNP	-	e8+1	ENST00000358321.3	37	c.1339+1	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351487	0.24512	.	.	ENSG00000099994	ENST00000358321	.	.	.	4.5	3.48	0.39840	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0759	0.48032	0.0944:0.0:0.9056:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUSD2	22911898	1.000000	0.71417	0.769000	0.31535	0.075000	0.17131	2.945000	0.49043	1.228000	0.43614	-0.266000	0.10368	.	SUSD2	-	-	ENSG00000099994		0.667	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1		0	82	0	G	NM_019601	Intron	24581898	1			no_errors	ENST00000358321	ensembl	human	known	74_37	splice_site	10.71	25	3	SNP	1.000	T	T	24581898	G	T	24581898	5	4	13	1	0	0	0	0	0	0	1	0	15455	1275	44	3	1370	3	SUSD2	22	24581898	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	545334	24581898	26722668	651	4197											
TFIP11	24144	genome.wustl.edu	37	chr22	26890888	26890888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgggggttaatgactaGctcaccaagacacatccctg	10	9	11	11	0	1	2	1	1	0	1	2	2	2	2	2	3	1	2	2	3	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:26890888G>T	ENST00000407690.1	-	13	2150	c.1867C>A	c.(1867-1869)Cta>Ata	p.L623I	TFIP11_ENST00000407431.1_Missense_Mutation_p.L623I|TFIP11_ENST00000407148.1_Missense_Mutation_p.L623I|TFIP11_ENST00000405938.1_Missense_Mutation_p.L623I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	623					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TTAATGACTAGCTCACCAAGA	0.483																																																	0													89	76	81					22																	26890888		2203	4300	6503	SO:0001583	missense	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1867C>A	22.37:g.26890888G>T	ENSP00000384421:p.Leu623Ile		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Missense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.L623I	ENST00000407690.1	37	c.1867	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695839	0.48202	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.44	-5.28	0.02755	GC-rich sequence DNA-binding factor domain (1);	0.133094	0.51477	D	0.000093	T	0.54791	0.1880	M	0.79011	2.435	0.42082	D	0.991251	P	0.40000	0.698	P	0.45753	0.492	T	0.63829	-0.6548	10	0.52906	T	0.07	-28.3092	13.7243	0.62748	0.6356:0.0:0.3644:0.0	.	623	Q9UBB9	TFP11_HUMAN	I	623;623;623;308;623	ENSP00000384421:L623I;ENSP00000383892:L623I;ENSP00000385861:L623I;ENSP00000384297:L623I	ENSP00000384297:L623I	L	-	1	2	TFIP11	25220888	0.730000	0.28100	0.157000	0.22605	0.959000	0.62525	0.806000	0.27126	-0.640000	0.05495	-0.142000	0.14014	CTA	TFIP11	-	pfam_GCFC_dom	ENSG00000100109		0.483	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	-	0	79	0	G	NM_001008697		26890888	-1	tier1	-	no_errors	ENST00000405938	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.319	T	T	26890888	G	T	26890888	3	4	13	1	0	0	0	0	1	0	0	0	15854	962	34	3	658	3	TFIP11	22	26890888	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2308990	26890888	24413678	652	4198											
KREMEN1	83999	genome.wustl.edu	37	chr22	29533335	29533335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctcctacagctctcGtgggcgcctgcggtgggaac	4	12	12	13	3	2	0	0	0	2	0	5	1	3	1	2	3	4	1	2	3	2	3	rs377602415		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:29533335G>T	ENST00000407188.1	+	6	631	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	KREMEN1_ENST00000327813.5_Missense_Mutation_p.V213L|KREMEN1_ENST00000400338.2_Missense_Mutation_p.V213L|KREMEN1_ENST00000400335.4_Missense_Mutation_p.V213L			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	211					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						TACAGCTCTCGTGGGCGCCTG	0.587																																																	0													75	77	76					22																	29533335		1966	4143	6109	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.631G>T	22.37:g.29533335G>T	ENSP00000385431:p.Val211Leu		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.V213L	ENST00000407188.1	37	c.637	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252597	0.22880	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.60672	0.2;0.17;0.19;0.17	5.14	1.91	0.25777	.	0.327204	0.24927	N	0.034496	T	0.46658	0.1404	L	0.48642	1.525	0.23174	N	0.998178	B;B;B	0.28783	0.072;0.222;0.206	B;B;B	0.32289	0.024;0.072;0.143	T	0.32877	-0.9890	10	0.33141	T	0.24	.	7.4301	0.27122	0.3487:0.0:0.6513:0.0	.	211;213;213	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	L	213;213;213;211	ENSP00000383189:V213L;ENSP00000383192:V213L;ENSP00000331242:V213L;ENSP00000385431:V211L	ENSP00000331242:V213L	V	+	1	0	KREMEN1	27863335	1.000000	0.71417	0.004000	0.12327	0.249000	0.25844	4.379000	0.59575	0.297000	0.22615	-0.229000	0.12294	GTG	KREMEN1	-	pirsf_Kremen	ENSG00000183762		0.587	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0	54	0	G			29533335	1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.211	T	T	29533335	G	T	29533335	3	4	13	1	0	0	0	0	1	0	0	0	8469	1145	40	2	659	2	KREMEN1	22	29533335	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2642447	29533335	21771231	653	4199											
BPIL2	254240	genome.wustl.edu	37	chr22	32841868	32841868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgggcatggctcagttGggcgtagcaatcttggagct	7	10	16	8	2	2	0	1	0	1	0	2	2	2	1	0	4	2	6	0	4	2	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:32841868G>C	ENST00000397452.1	-	5	600	c.490C>G	c.(490-492)Caa>Gaa	p.Q164E	BPIFC_ENST00000300399.3_Missense_Mutation_p.Q164E|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000534972.1_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	164						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGCTCAGTTGGGCGTAGCAA	0.527																																																	0													80	78	79					22																	32841868		2203	4300	6503	SO:0001583	missense	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.490C>G	22.37:g.32841868G>C	ENSP00000380594:p.Gln164Glu		A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.Q164E	ENST00000397452.1	37	c.490	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925823	0.52759	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.05258	3.47;3.47	5.6	5.6	0.85130	.	0.498586	0.23393	N	0.048678	T	0.13157	0.0319	M	0.79123	2.44	0.80722	D	1	P	0.39576	0.679	B	0.41946	0.371	T	0.04840	-1.0923	10	0.22706	T	0.39	-2.543	15.1259	0.72483	0.0:0.0:1.0:0.0	.	164	Q8NFQ6	BPIFC_HUMAN	E	164	ENSP00000380594:Q164E;ENSP00000300399:Q164E	ENSP00000300399:Q164E	Q	-	1	0	BPIFC	31171868	1.000000	0.71417	0.994000	0.49952	0.834000	0.47266	4.484000	0.60271	2.641000	0.89580	0.650000	0.86243	CAA	BPIFC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000184459		0.527	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	-	0	117	0	G	NM_174932		32841868	-1	tier1	-	no_errors	ENST00000300399	ensembl	human	known	74_37	missense	34.91	69	37	SNP	0.998	C	C	32841868	G	C	32841868	3	2	13	1	0	0	0	0	1	0	0	0	1496	1357	47	5	1081	5	BPIL2	22	32841868	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	3308533	32841868	18462698	654	4200											
SSTR3	6753	genome.wustl.edu	37	chr22	37602865	37602865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggagggccgcagcaggacCctgcggaagccctgcttgaa	8	4	16	13	3	0	1	0	1	0	0	0	4	0	4	3	4	4	3	3	4	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:37602865C>A	ENST00000328544.3	-	2	1511	c.978G>T	c.(976-978)agG>agT	p.R326S	SSTR3_ENST00000402501.1_Missense_Mutation_p.R326S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	326					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCAGCAGGACCCTGCGGAAGC	0.657																																																	0													40	42	42					22																	37602865		2203	4299	6502	SO:0001583	missense	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.978G>T	22.37:g.37602865C>A	ENSP00000330138:p.Arg326Ser		A8K550|Q53ZR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.R326S	ENST00000328544.3	37	c.978	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079510	0.76528	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.39056	1.1;1.1	5.29	4.25	0.50352	.	0.049665	0.85682	D	0.000000	T	0.52773	0.1755	M	0.64997	1.995	0.43326	D	0.995354	D	0.63046	0.992	P	0.57468	0.821	T	0.55296	-0.8163	10	0.72032	D	0.01	.	9.2614	0.37614	0.0:0.777:0.1469:0.0761	.	326	P32745	SSR3_HUMAN	S	326	ENSP00000330138:R326S;ENSP00000384904:R326S	ENSP00000330138:R326S	R	-	3	2	SSTR3	35932811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.982000	0.29539	1.177000	0.42855	0.563000	0.77884	AGG	SSTR3	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt_3,prints_Somatstn_rcpt	ENSG00000183473		0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0	140	0	C			37602865	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	missense	7.03	119	9	SNP	1.000	A	A	37602865	C	A	37602865	3	1	13	1	0	0	0	0	1	0	0	0	15246	622	22	3	282	3	SSTR3	22	37602865	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	4760997	37602865	13701701	655	4201											
PDXP	57026	genome.wustl.edu	37	chr22	38061577	38061577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaggcaccgggagcctggCcgctgcagtggagacagcct	8	5	15	13	2	0	1	0	0	0	1	0	3	0	2	4	4	4	3	4	4	1	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:38061577C>T	ENST00000215904.6	+	2	646	c.590C>T	c.(589-591)gCc>gTc	p.A197V	SH3BP1_ENST00000599616.1_Missense_Mutation_p.A506V|PDXP_ENST00000403251.1_5'UTR	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	197					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GGGAGCCTGGCCGCTGCAGTG	0.652																																																	0													32	30	31					22																	38061577		2203	4299	6502	SO:0001583	missense	0			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.590C>T	22.37:g.38061577C>T	ENSP00000215904:p.Ala197Val		Q9UGY2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.A506V	ENST00000215904.6	37	c.1517	CCDS13953.1	22	.	.	.	.	.	.	.	.	.	.	C	0.942	-0.709189	0.03230	.	.	ENSG00000241360	ENST00000215904	T	0.29655	1.56	5.58	3.5	0.40072	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.10208	0.0250	N	0.03224	-0.385	0.80722	D	1	B;B	0.26935	0.031;0.164	B;B	0.12156	0.003;0.007	T	0.15292	-1.0442	9	0.02654	T	1	-0.6502	9.0796	0.36542	0.0:0.7797:0.0:0.2203	.	197;506	Q96GD0;Q6ZT62	PLPP_HUMAN;.	V	197	ENSP00000215904:A197V	ENSP00000215904:A197V	A	+	2	0	PDXP	36391523	0.000000	0.05858	0.866000	0.34008	0.301000	0.27625	0.433000	0.21477	1.360000	0.45960	0.561000	0.74099	GCC	SH3BP1	-	superfamily_HAD-like_dom	ENSG00000100092		0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000104105.2	-	0	41	0	C	NM_020315		38061577	1	tier1	-	no_errors	ENST00000599616	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.810	T	T	38061577	C	T	38061577	3	4	13	1	0	0	0	0	1	0	0	0	11737	739	26	3	596	3	PDXP	22	38061577	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	458712	38061577	13242989	656	4202											
POLR3H	171568	genome.wustl.edu	37	chr22	41940092	41940093	+	Missense_Mutation	DNP	AC	AC	CA																															ggacggtgtccaccatttccAccaggacgaacatcccggcc																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:41940092_41940093AC>CA	ENST00000355209.4	-	1	356_357	c.13_14GT>TG	c.(13-15)GTg>TGg	p.V5W	POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000396504.2_Missense_Mutation_p.V5W|POLR3H_ENST00000337566.5_Missense_Mutation_p.V5W|POLR3H_ENST00000407461.1_Missense_Mutation_p.V5W	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	5					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CACCATTTCCACCAGGACGAAC	0.629																																																	0																																										SO:0001583	missense	0			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"RNA polymerase subunits"	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.13_14delinsCA	22.37:g.41940092_41940093delinsCA	ENSP00000347345:p.Val5Trp		B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold,tigrfam_RNAP_E/RPC8	p.V5G|p.V5L	ENST00000355209.4	37	c.14|c.13	CCDS14018.1	22																																																																																			POLR3H	-	superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8	ENSG00000100413		0.629	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3H	HGNC	protein_coding	OTTHUMT00000320701.1	-	0	169|167	0	A|C	NM_138338		41940092|41940093	-1	tier1	-	no_errors	ENST00000355209	ensembl	human	known	74_37	missense	8.57|8.70	128|126	12	SNP	1.000	C|A	CA	41940093	AC	CA	41940092	3	2	13	1	0	0	0	0	1	0	0	0	12275	159	6	4	624	4	POLR3H	22	41940092	Missense_Mutation	DNP	AC	TCGA-IC-A6RE-01A-11D-A33E-09	3878515	41940092	9364474	657	4203											
MEI1	150365	genome.wustl.edu	37	chr22	42180705	42180705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggggcccagccactgccagCcaccaaggacactgtcctag	10	4	11	16	0	0	0	0	0	0	0	1	1	1	1	6	3	3	0	6	3	2	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:42180705C>A	ENST00000401548.3	+	26	3303	c.3263C>A	c.(3262-3264)gCc>gAc	p.A1088D	MEI1_ENST00000300398.4_Missense_Mutation_p.A96D|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.A421D	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCACTGCCAGCCACCAAGGAC	0.612																																																	0													32	34	34					22																	42180705		1998	4177	6175	SO:0001583	missense	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3263C>A	22.37:g.42180705C>A	ENSP00000384115:p.Ala1088Asp			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A1088D	ENST00000401548.3	37	c.3263	CCDS46718.1	22	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525612	0.27299	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.45	1.9	0.25705	.	1.024520	0.07738	N	0.946339	T	0.65375	0.2685	L	0.44542	1.39	0.09310	N	1	P;B;P;B;B;P	0.49090	0.919;0.435;0.904;0.002;0.004;0.919	P;B;P;B;B;P	0.49887	0.463;0.215;0.625;0.003;0.004;0.491	T	0.53380	-0.8447	10	0.48119	T	0.1	-18.0097	7.6693	0.28449	0.3346:0.5032:0.1621:0.0	.	102;421;198;331;456;1088	B7Z735;Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;.;MEI1_HUMAN	D	1088;421;96;198;96	ENSP00000384115:A1088D;ENSP00000382978:A421D;ENSP00000300398:A96D;ENSP00000385298:A96D	ENSP00000300398:A96D	A	+	2	0	MEI1	40510651	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.029000	0.12329	0.642000	0.30620	-0.182000	0.12963	GCC	MEI1	-	NULL	ENSG00000167077		0.612	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3	-	0	60	0	C	NM_152513		42180705	1	tier1	-	no_errors	ENST00000401548	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.001	A	A	42180705	C	A	42180705	3	1	13	1	0	0	0	0	1	0	0	0	9503	739	26	3	3365	3	MEI1	22	42180705	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	240613	42180705	9123861	658	4204											
SEPT3	55964	genome.wustl.edu	37	chr22	42377841	42377841	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcaacatcatggtcgttgGtacggaaggctgtggggctg	7	11	15	8	2	2	0	2	0	0	0	3	1	2	1	0	6	2	4	0	6	3	3			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:42377841G>T	ENST00000396426.3	+	2	457		c.e2+1		SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000328414.8_Splice_Site|SEPT3_ENST00000291236.11_Intron|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000396425.3_Splice_Site	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3						cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.?(1)		breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ATGGTCGTTGGTACGGAAGGC	0.557																																																	1	Unknown(1)	large_intestine(1)											92	75	81					22																	42377841		2203	4300	6503	SO:0001630	splice_region_variant	0			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"Septins"	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.202+1G>T	22.37:g.42377841G>T			B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Splice_Site	SNP	-	e2+1	ENST00000396426.3	37	c.202+1	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536225	0.45176	.	.	ENSG00000100167	ENST00000449288;ENST00000396426;ENST00000328414;ENST00000396425	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6688	0.95903	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEPT3	40707787	1.000000	0.71417	0.960000	0.40013	0.110000	0.19582	9.869000	0.99810	2.735000	0.93741	0.557000	0.71058	.	SEPT3	-	-	ENSG00000100167		0.557	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1		0	51	0	G	NM_145734	Intron	42377841	1			no_errors	ENST00000396426	ensembl	human	known	74_37	splice_site	5.26	36	2	SNP	1.000	T	T	42377841	G	T	42377841	5	4	13	1	0	0	0	0	0	0	1	0	14110	1275	44	3	209	3	SEPT3	22	42377841	Splice_Site	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	197136	42377841	8926725	659	4205											
SAMM50	25813	genome.wustl.edu	37	chr22	44364657	44364657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaaaattgctccgtcttgGaatttttagacaagtggatg	12	14	10	5	1	1	2	0	1	1	1	2	4	2	4	1	2	1	1	1	2	5	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:44364657G>A	ENST00000350028.4	+	4	438	c.281G>A	c.(280-282)gGa>gAa	p.G94E	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	94					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTCCGTCTTGGAATTTTTAGA	0.363																																																	0													121	126	124					22																	44364657		2203	4300	6503	SO:0001583	missense	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"sorting and assembly machinery component 50 homolog (S. cerevisiae)"			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.281G>A	22.37:g.44364657G>A	ENSP00000345445:p.Gly94Glu		Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	pfam_Bac_surfAg_D15	p.G94E	ENST00000350028.4	37	c.281	CCDS14055.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228631	0.79576	.	.	ENSG00000100347	ENST00000350028	T	0.48836	0.8	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73799	-0.3869	10	0.87932	D	0	-28.6701	17.478	0.87666	0.0:0.0:1.0:0.0	.	94	Q9Y512	SAM50_HUMAN	E	94	ENSP00000345445:G94E	ENSP00000345445:G94E	G	+	2	0	SAMM50	42695990	1.000000	0.71417	0.264000	0.24511	0.789000	0.44602	8.813000	0.91963	2.436000	0.82500	0.563000	0.77884	GGA	SAMM50	-	NULL	ENSG00000100347		0.363	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2	-	0	37	0	G	NM_015380		44364657	1	tier1	-	no_errors	ENST00000350028	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.997	A	A	44364657	G	A	44364657	3	1	13	1	0	0	0	0	1	0	0	0	13874	1174	41	3	295	3	SAMM50	22	44364657	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1986816	44364657	6939909	660	4206											
PKDREJ	10343	genome.wustl.edu	37	chr22	46656636	46656636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttcaactttcttgacatAcatgttgaaattgggggttc	9	17	8	7	0	2	2	1	2	1	0	3	2	2	2	0	2	2	2	0	2	3	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chr22:46656636A>G	ENST00000253255.5	-	1	2583	c.2584T>C	c.(2584-2586)Tat>Cat	p.Y862H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	862	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTCTTGACATACATGTTGAAA	0.388																																																	0													68	67	68					22																	46656636		2203	4300	6503	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2584T>C	22.37:g.46656636A>G	ENSP00000253255:p.Tyr862His		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.Y862H	ENST00000253255.5	37	c.2584	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	A	11.77	1.738349	0.30774	.	.	ENSG00000130943	ENST00000253255	T	0.36340	1.26	5.16	-1.5	0.08691	Egg jelly receptor, REJ-like (1);	0.885835	0.09634	N	0.775852	T	0.25457	0.0619	L	0.50333	1.59	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.27905	-1.0060	10	0.22706	T	0.39	-8.1353	3.9092	0.09196	0.2374:0.0:0.3026:0.4601	.	862	Q9NTG1	PKDRE_HUMAN	H	862	ENSP00000253255:Y862H	ENSP00000253255:Y862H	Y	-	1	0	PKDREJ	45035300	0.000000	0.05858	0.002000	0.10522	0.713000	0.41058	0.087000	0.14958	-0.183000	0.10585	0.533000	0.62120	TAT	PKDREJ	-	pfscan_REJ-like	ENSG00000130943		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1		0	50	0	A	NM_006071		46656636	-1			no_errors	ENST00000253255	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.001	G	G	46656636	A	G	46656636	3	3	13	1	0	0	0	0	1	0	0	0	12009	391	14	4	4181	4	PKDREJ	22	46656636	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	2291979	46656636	4647930	661	4207											
MXRA5	25878	genome.wustl.edu	37	chrX	3240213	3240213	+	Silent	SNP	G	G	T																															tctgatggggcaaaagttgtGggtggggtttgcttgtgccg																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:3240213G>T	ENST00000217939.6	-	5	3667	c.3513C>A	c.(3511-3513)ccC>ccA	p.P1171P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1171						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAAAGTTGTGGGTGGGGTTT	0.502																																																	0													120	122	122					X																	3240213		2203	4300	6503	SO:0001819	synonymous_variant	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3513C>A	X.37:g.3240213G>T			Q6P1M7|Q9Y3Y8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P1171	ENST00000217939.6	37	c.3513	CCDS14124.1	X																																																																																			MXRA5	-	NULL	ENSG00000101825		0.502	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	20	0	G	NM_015419		3240213	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.000	T	T	3240213	G	T	3240213	2	4	13	1	0	0	0	0	0	0	0	1	10041	1335	47	3		3	MXRA5	23	3240213	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09		3240213	152030347	662	4208	13	2									
MXRA5	25878	genome.wustl.edu	37	chrX	3240217	3240217	+	Missense_Mutation	SNP	G	G	T																															atggggcaaaagttgtgggtGgggtttgcttgtgccggtgg																										TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:3240217G>T	ENST00000217939.6	-	5	3663	c.3509C>A	c.(3508-3510)cCa>cAa	p.P1170Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1170						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTTGTGGGTGGGGTTTGCTT	0.507																																																	0													122	124	123					X																	3240217		2203	4300	6503	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3509C>A	X.37:g.3240217G>T	ENSP00000217939:p.Pro1170Gln		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P1170Q	ENST00000217939.6	37	c.3509	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	7.467	0.645917	0.14451	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.61	-1.97	0.07503	.	1.810110	0.03444	U	0.209723	T	0.45856	0.1363	N	0.24115	0.695	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.39461	-0.9613	10	0.26408	T	0.33	.	5.0645	0.14574	0.3827:0.2378:0.3795:0.0	.	1170	Q9NR99	MXRA5_HUMAN	Q	1170	ENSP00000217939:P1170Q	ENSP00000217939:P1170Q	P	-	2	0	MXRA5	3250217	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-0.617000	0.05584	0.021000	0.15133	0.519000	0.50382	CCA	MXRA5	-	NULL	ENSG00000101825		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	24	0	G	NM_015419		3240217	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.000	T	T	3240217	G	T	3240217	3	4	13	1	0	0	0	0	1	0	0	0	10041	1348	47	3	4989	3	MXRA5	23	3240217	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	4	3240217	152030343	663	4209	13	2									
WWC3	55841	genome.wustl.edu	37	chrX	10096087	10096087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgagatgcagctgcgctgGcattccgtgcaggtgttcac	7	10	14	10	2	1	1	1	1	0	1	2	2	2	1	1	2	4	6	1	2	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:10096087G>C	ENST00000380861.4	+	16	2557	c.2166G>C	c.(2164-2166)tgG>tgC	p.W722C	WWC3_ENST00000454666.1_Missense_Mutation_p.W722C	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	722					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562																																																	0													102	91	95					X																	10096087		2203	4300	6503	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2166G>C	X.37:g.10096087G>C	ENSP00000370242:p.Trp722Cys		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_dom	p.W722C	ENST00000380861.4	37	c.2166	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222958	0.79464	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.47177	0.85;0.85	5.88	5.88	0.94601	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74725	-0.3568	9	.	.	.	-22.1889	19.1732	0.93588	0.0:0.0:1.0:0.0	.	722	Q9ULE0	WWC3_HUMAN	C	722;722;217	ENSP00000370242:W722C;ENSP00000399584:W722C	.	W	+	3	0	WWC3	10056087	1.000000	0.71417	0.991000	0.47740	0.803000	0.45373	7.965000	0.87945	2.479000	0.83701	0.600000	0.82982	TGG	WWC3	-	superfamily_C2_dom	ENSG00000047644		0.562	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	-	0	39	0	G	NM_015691		10096087	1	tier1	-	no_errors	ENST00000380861	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C	C	10096087	G	C	10096087	3	2	13	1	0	0	0	0	1	0	0	0	17462	1212	42	5	2224	5	WWC3	23	10096087	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6855870	10096087	145174473	664	4210											
AMELX	265	genome.wustl.edu	37	chrX	11316830	11316830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcaaccaatgatgcccGttcctggccaacactccatg	10	7	7	17	1	0	1	0	1	0	0	2	1	2	1	6	1	4	2	6	1	3	1	rs367556910		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:11316830G>A	ENST00000380714.3	+	5	375	c.307G>A	c.(307-309)Gtt>Att	p.V103I	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.V87I|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.V117I|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	103					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AATGATGCCCGTTCCTGGCCA	0.642																																																	0								G	,,ILE/VAL,ILE/VAL,ILE/VAL	0,3835		0,0,0,1632,571	156	128	138		,,259,349,307	0.3	1	X		138	1,6727		0,0,1,2428,1871	no	intron,intron,missense,missense,missense	AMELX,ARHGAP6	NM_006125.2,NM_013427.2,NM_182681.1,NM_182680.1,NM_001142.2	,,29,29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,,benign,benign,benign	,,87/176,117/206,103/192	11316830	1,10562	2203	4300	6503	SO:0001583	missense	0				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"amelogenesis imperfecta 1"	300391	"amelogenin (X chromosome, amelogenesis imperfecta 1)"	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.307G>A	X.37:g.11316830G>A	ENSP00000370090:p.Val103Ile		Q96NW6|Q9UCA7	Missense_Mutation	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.V117I	ENST00000380714.3	37	c.349	CCDS14144.1	X	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859331	0.32884	0.0	1.49E-4	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.88741	-2.42;-2.42;-2.42	5.17	0.259	0.15583	.	0.795910	0.10943	N	0.617015	T	0.81959	0.4933	L	0.48362	1.52	0.27792	N	0.942794	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.08055	0.003;0.002;0.003	T	0.66248	-0.5971	10	0.30078	T	0.28	1.0509	5.0375	0.14441	0.3121:0.2658:0.4221:0.0	.	87;103;117	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	I	103;117;87	ENSP00000370090:V103I;ENSP00000370088:V117I;ENSP00000335312:V87I	ENSP00000335312:V87I	V	+	1	0	AMELX	11226751	0.831000	0.29352	0.981000	0.43875	0.975000	0.68041	-0.157000	0.10085	-0.137000	0.11455	0.415000	0.27848	GTT	AMELX	-	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	ENSG00000125363		0.642	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	-	0	26	0	G	NM_001142		11316830	1	tier1	-	no_errors	ENST00000380712	ensembl	human	known	74_37	missense	72.50	11	29	SNP	0.842	A	A	11316830	G	A	11316830	3	1	13	1	0	0	0	0	1	0	0	0	569	1145	40	1	367	1	AMELX	23	11316830	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1220743	11316830	143953730	665	4211											
NHS	4810	genome.wustl.edu	37	chrX	17746822	17746822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttagtgaagactcccaaGctgaagcagagggtgtgttc	11	9	12	9	0	0	4	0	2	0	2	2	4	1	4	1	1	2	3	1	1	4	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:17746822G>T	ENST00000380060.3	+	7	4551	c.4213G>T	c.(4213-4215)Gct>Tct	p.A1405S	NHS_ENST00000398097.3_Missense_Mutation_p.A1249S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1426					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGACTCCCAAGCTGAAGCAGA	0.438																																																	0													104	93	97					X																	17746822		2203	4300	6503	SO:0001583	missense	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4213G>T	X.37:g.17746822G>T	ENSP00000369400:p.Ala1405Ser		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.A1405S	ENST00000380060.3	37	c.4213	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353349	0.41700	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44881	0.91;0.91	6.06	4.31	0.51392	.	0.219366	0.47455	D	0.000238	T	0.35219	0.0924	M	0.62723	1.935	0.40950	D	0.984532	P;P;P;B	0.41848	0.763;0.763;0.763;0.096	B;B;B;B	0.37144	0.242;0.242;0.242;0.076	T	0.19516	-1.0303	10	0.08381	T	0.77	-4.0978	12.1203	0.53887	0.1413:0.0:0.8587:0.0	.	1426;1247;1249;1405	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	1405;1249;1247	ENSP00000369400:A1405S;ENSP00000381170:A1249S	ENSP00000369397:A1247S	A	+	1	0	NHS	17656743	0.999000	0.42202	0.983000	0.44433	0.970000	0.65996	1.247000	0.32815	0.690000	0.31570	0.600000	0.82982	GCT	NHS	-	NULL	ENSG00000188158		0.438	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	-	0	42	0	G	NM_198270		17746822	1	tier1	-	no_errors	ENST00000380060	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.994	T	T	17746822	G	T	17746822	3	4	13	1	0	0	0	0	1	0	0	0	10450	971	34	3	4344	3	NHS	23	17746822	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	6429992	17746822	137523738	666	4212											
DMD	1756	genome.wustl.edu	37	chrX	32328222	32328222	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagactcctcttgcttaaAgagatcttcaaagtccttag	12	12	7	10	0	3	2	1	0	2	2	5	4	5	2	2	0	1	1	2	0	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:32328222A>C	ENST00000357033.4	-	42	6300	c.6094T>G	c.(6094-6096)Ttt>Gtt	p.F2032V	DMD_ENST00000378677.2_Missense_Mutation_p.F2028V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2032					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTGCTTAAAGAGATCTTCA	0.383																																																	0													95	79	84					X																	32328222		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6094T>G	X.37:g.32328222A>C	ENSP00000354923:p.Phe2032Val		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.F2032V	ENST00000357033.4	37	c.6094	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	12.65	2.000281	0.35320	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48836	0.8;0.8	6.16	6.16	0.99307	.	0.202152	0.24312	U	0.039624	T	0.40645	0.1125	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B	0.30146	0.004;0.27;0.005;0.126;0.005	B;B;B;B;B	0.31812	0.006;0.136;0.011;0.067;0.007	T	0.27640	-1.0068	10	0.28530	T	0.3	.	10.8858	0.46965	0.8455:0.1545:0.0:0.0	.	2024;2032;2028;691;688	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	V	2024;691;688;2028;2032;2032;1909	ENSP00000367948:F2028V;ENSP00000354923:F2032V	ENSP00000354923:F2032V	F	-	1	0	DMD	32238143	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.730000	0.47335	2.085000	0.62840	0.481000	0.45027	TTT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.383	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	28	0	A	NM_004006		32328222	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.997	C	C	32328222	A	C	32328222	3	2	13	1	0	0	0	0	1	0	0	0	4594	72	3	4	5263	4	DMD	23	32328222	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	14581400	32328222	122942338	667	4213											
MED14	9282	genome.wustl.edu	37	chrX	40523690	40523690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatcctggccagttccctGctcgtccacttggtgacacc	6	10	10	15	1	0	2	0	1	0	1	4	3	3	2	5	2	1	2	5	2	0	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:40523690G>A	ENST00000324817.1	-	25	3435	c.3317C>T	c.(3316-3318)gCa>gTa	p.A1106V		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1106	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGTTCCCTGCTCGTCCACT	0.478																																																	0													120	84	96					X																	40523690		2203	4300	6503	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3317C>T	X.37:g.40523690G>A	ENSP00000323720:p.Ala1106Val		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.A1106V	ENST00000324817.1	37	c.3317	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717773	0.48622	.	.	ENSG00000180182	ENST00000324817;ENST00000433003	.	.	.	5.11	5.11	0.69529	.	0.067255	0.64402	D	0.000017	T	0.51160	0.1658	N	0.21282	0.65	0.45015	D	0.99803	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.46020	-0.9221	9	0.46703	T	0.11	.	17.7191	0.88345	0.0:0.0:1.0:0.0	.	1106;1106	A8KAK5;O60244	.;MED14_HUMAN	V	1106;5	.	ENSP00000323720:A1106V	A	-	2	0	MED14	40408634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.882000	0.63121	2.113000	0.64589	0.600000	0.82982	GCA	MED14	-	NULL	ENSG00000180182		0.478	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	-	0	36	0	G	NM_004229		40523690	-1	tier1	-	no_errors	ENST00000324817	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	A	A	40523690	G	A	40523690	3	1	13	1	0	0	0	0	1	0	0	0	9470	1319	46	3	1075	3	MED14	23	40523690	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8195468	40523690	114746870	668	4214											
GPR34	2857	genome.wustl.edu	37	chrX	41555683	41555683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatatgccactacagctcGtaactcctttattgtactta	12	15	4	10	1	0	0	0	0	0	0	2	0	1	0	2	0	5	3	2	0	8	9			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:41555683G>A	ENST00000378142.4	+	3	1081	c.797G>A	c.(796-798)cGt>cAt	p.R266H	CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R266H|CASK_ENST00000318588.9_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	266					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						ACTACAGCTCGTAACTCCTTT	0.318																																																	0													164	118	134					X																	41555683		2203	4300	6503	SO:0001583	missense	0			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"GPCR / Class A : Orphans"	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.797G>A	X.37:g.41555683G>A	ENSP00000367384:p.Arg266His		O95853	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R266H	ENST00000378142.4	37	c.797	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164927	0.57476	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.40225	1.04;1.04	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.251580	0.39544	N	0.001332	T	0.66607	0.2806	M	0.87381	2.88	0.36889	D	0.889785	D	0.76494	0.999	D	0.75020	0.985	T	0.75196	-0.3403	10	0.48119	T	0.1	-7.5893	11.8951	0.52652	0.0817:0.0:0.9183:0.0	.	266	Q9UPC5	GPR34_HUMAN	H	266;266;219	ENSP00000367384:R266H;ENSP00000367378:R266H	ENSP00000367378:R266H	R	+	2	0	GPR34	41440627	0.991000	0.36638	0.913000	0.36048	0.867000	0.49689	3.921000	0.56454	2.290000	0.77057	0.594000	0.82650	CGT	GPR34	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171659		0.318	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	-	0	25	0	G	NM_005300		41555683	1	tier1	-	no_errors	ENST00000378138	ensembl	human	known	74_37	missense	72.41	8	21	SNP	0.970	A	A	41555683	G	A	41555683	3	1	13	1	0	0	0	0	1	0	0	0	6715	1145	40	1	799	1	GPR34	23	41555683	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	1031993	41555683	113714877	669	4215											
ELK1	2002	genome.wustl.edu	37	chrX	47498581	47498581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagagacagtgtcccctgGggcggcatgtatagcagcag	9	7	14	11	1	0	1	0	0	0	1	2	2	2	1	3	3	2	4	3	3	2	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:47498581G>A	ENST00000247161.3	-	3	466	c.367C>T	c.(367-369)Cca>Tca	p.P123S	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P69S|ELK1_ENST00000376983.3_Missense_Mutation_p.P123S	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	123					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GTGTCCCCTGGGGCGGCATGT	0.637																																																	0													32	25	27					X																	47498581		2203	4300	6503	SO:0001583	missense	0			M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.367C>T	X.37:g.47498581G>A	ENSP00000247161:p.Pro123Ser		B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P123S	ENST00000247161.3	37	c.367	CCDS14283.1	X	.	.	.	.	.	.	.	.	.	.	G	0.144	-1.098468	0.01843	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.52526	0.66;0.66	5.32	2.41	0.29592	.	0.164157	0.53938	N	0.000048	T	0.22399	0.0540	N	0.17082	0.46	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.27157	-1.0082	10	0.02654	T	1	.	6.0348	0.19702	0.1849:0.154:0.661:0.0	.	123	P19419	ELK1_HUMAN	S	123	ENSP00000247161:P123S;ENSP00000366182:P123S	ENSP00000247161:P123S	P	-	1	0	ELK1	47383525	0.042000	0.20092	0.008000	0.14137	0.019000	0.09904	0.285000	0.18883	0.553000	0.29044	-0.192000	0.12808	CCA	ELK1	-	NULL	ENSG00000126767		0.637	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELK1	HGNC	protein_coding	OTTHUMT00000056436.1	-	0	56	0	G	NM_005229		47498581	-1	tier1	-	no_errors	ENST00000247161	ensembl	human	known	74_37	missense	11.48	54	7	SNP	0.014	A	A	47498581	G	A	47498581	3	1	13	1	0	0	0	0	1	0	0	0	5075	1232	43	3	935	3	ELK1	23	47498581	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	5942898	47498581	107771979	670	4216											
GATA1	2623	genome.wustl.edu	37	chrX	48652484	48652484	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatgcctttccctggaccCctactgggctcacccacggg	5	9	9	18	1	2	0	2	0	0	0	3	1	3	1	5	3	2	1	5	3	1	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48652484C>G	ENST00000376670.3	+	6	1266	c.1155C>G	c.(1153-1155)ccC>ccG	p.P385P	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	385					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TCCCTGGACCCCTACTGGGCT	0.657			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													26	25	25					X																	48652484		2202	4299	6501	SO:0001819	synonymous_variant	0			X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"GATA zinc finger domain containing"	4170	protein-coding gene	gene with protein product	"nuclear factor, erythroid 1"	305371	"GATA-binding protein 1 (globin transcription factor 1)"	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.1155C>G	X.37:g.48652484C>G			Q96GB8	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P385	ENST00000376670.3	37	c.1155	CCDS14305.1	X																																																																																			GATA1	-	pirsf_TF_GATA-1/2/3	ENSG00000102145		0.657	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	-	0	35	0	C	NM_002049		48652484	1	tier1	-	no_errors	ENST00000376670	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.001	G	G	48652484	C	G	48652484	2	3	13	1	0	0	0	0	0	0	0	1	6278	610	22	5		5	GATA1	23	48652484	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1153903	48652484	106618076	671	4217											
PIM2	11040	genome.wustl.edu	37	chrX	48772479	48772479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagaagcagcggcttgggCcttcacccagtgggcccttc	8	7	12	14	1	1	1	1	0	0	1	2	1	1	1	3	3	2	2	3	3	2	3	rs35044770	byFrequency	TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:48772479C>T	ENST00000376509.4	-	4	602	c.413G>A	c.(412-414)gGc>gAc	p.G138D	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> D (in dbSNP:rs35044770). {ECO:0000269|PubMed:17344846}.		apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GCGGCTTGGGCCTTCACCCAG	0.557																																																	0								C	ASP/GLY	0,3835		0,0,0,1632,571	51	45	47		413	1.2	0	X	dbSNP_126	47	3,6725		0,1,2,2427,1870	no	missense	PIM2	NM_006875.3	94	0,1,2,4059,2441	TT,TC,T,CC,C		0.0446,0.0,0.0284	benign	138/312	48772479	3,10560	2203	4300	6503	SO:0001583	missense	0			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"pim-2 oncogene"			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.413G>A	X.37:g.48772479C>T	ENSP00000365692:p.Gly138Asp		A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G138D	ENST00000376509.4	37	c.413	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	C	0.673	-0.801096	0.02841	0.0	4.46E-4	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.63913	-0.07;-0.07	5.35	1.19	0.21007	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.045300	0.07421	N	0.893940	T	0.27832	0.0685	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19353	-1.0308	10	0.11485	T	0.65	.	4.3365	0.11089	0.1616:0.3489:0.0:0.4895	rs35044770	138	Q9P1W9	PIM2_HUMAN	D	138;26	ENSP00000365692:G138D;ENSP00000410960:G26D	ENSP00000365692:G138D	G	-	2	0	PIM2	48657423	0.000000	0.05858	0.007000	0.13788	0.847000	0.48162	-0.224000	0.09164	-0.101000	0.12219	-0.222000	0.12452	GGC	PIM2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102096		0.557	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	-	0	47	0	C			48772479	-1	tier1	rs35044770	no_errors	ENST00000376509	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.000	T	T	48772479	C	T	48772479	3	4	13	1	0	0	0	0	1	0	0	0	11967	739	26	3	534	3	PIM2	23	48772479	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	119995	48772479	106498081	672	4218											
CACNA1F	778	genome.wustl.edu	37	chrX	49088266	49088266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgctgtgctggtttcttCgcttaggggtccctaggcct	2	15	13	11	1	1	0	0	0	1	0	3	0	2	0	2	4	2	5	2	4	2	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:49088266C>T	ENST00000376265.2	-	2	210	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R50Q|CACNA1F_ENST00000376251.1_Intron	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGGTTTCTTCGCTTAGGGGT	0.657																																																	0													89	63	72					X																	49088266		2202	4299	6501	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.149G>A	X.37:g.49088266C>T	ENSP00000365441:p.Arg50Gln		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R50Q	ENST00000376265.2	37	c.149	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224722	0.39300	.	.	ENSG00000102001	ENST00000323022;ENST00000376265	D;D	0.95918	-3.85;-3.85	4.42	4.42	0.53409	.	0.549745	0.16739	N	0.201519	D	0.92394	0.7586	L	0.61218	1.895	0.25870	N	0.983724	P;P	0.51791	0.948;0.913	B;B	0.37601	0.254;0.129	D	0.87718	0.2571	9	.	.	.	.	10.1376	0.42717	0.0:0.8957:0.0:0.1043	.	50;50	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	50	ENSP00000321618:R50Q;ENSP00000365441:R50Q	.	R	-	2	0	CACNA1F	48975210	0.389000	0.25205	0.984000	0.44739	0.738000	0.42128	1.110000	0.31147	2.155000	0.67459	0.436000	0.28706	CGA	CACNA1F	-	NULL	ENSG00000102001		0.657	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0	37	0	C	NM_005183		49088266	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.927	T	T	49088266	C	T	49088266	3	4	13	1	0	0	0	0	1	0	0	0	2550	884	31	1	5972	1	CACNA1F	23	49088266	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	315787	49088266	106182294	673	4219											
TEX11	56159	genome.wustl.edu	37	chrX	69902540	69902540	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctaaaaagatttcttcAatcttctccttggcaagaag	13	13	6	9	0	4	3	1	1	3	2	5	3	4	3	2	1	0	1	2	1	6	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:69902540A>C	ENST00000395889.2	-	15	1340	c.1185T>G	c.(1183-1185)atT>atG	p.I395M	TEX11_ENST00000374320.2_Missense_Mutation_p.I70M|TEX11_ENST00000344304.3_Missense_Mutation_p.I395M|TEX11_ENST00000374333.2_Missense_Mutation_p.I380M	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	395					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGATTTCTTCAATCTTCTCCT	0.328																																																	0													75	63	67					X																	69902540		2203	4300	6503	SO:0001583	missense	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1185T>G	X.37:g.69902540A>C	ENSP00000379226:p.Ile395Met		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.I395M	ENST00000395889.2	37	c.1185	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062321	0.55432	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.51817	1.26;1.27;0.69;1.27	4.56	4.56	0.56223	.	0.225940	0.37012	N	0.002287	T	0.58409	0.2120	L	0.59436	1.845	0.29165	N	0.877522	D;D	0.59767	0.982;0.986	P;D	0.63283	0.859;0.913	T	0.56208	-0.8017	9	.	.	.	-5.8782	9.1626	0.37032	1.0:0.0:0.0:0.0	.	380;395	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	M	380;395;70;395	ENSP00000363453:I380M;ENSP00000379226:I395M;ENSP00000363440:I70M;ENSP00000340995:I395M	.	I	-	3	3	TEX11	69819265	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.006000	0.40874	1.681000	0.50988	0.339000	0.21740	ATT	TEX11	-	pfam_Meiosis_specific_SPO22	ENSG00000120498		0.328	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	-	0	62	0	A			69902540	-1	tier1	-	no_errors	ENST00000344304	ensembl	human	known	74_37	missense	13.21	91	14	SNP	1.000	C	C	69902540	A	C	69902540	3	2	13	1	0	0	0	0	1	0	0	0	15821	126	5	4	1705	4	TEX11	23	69902540	Missense_Mutation	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	20814274	69902540	85368020	674	4220											
NHSL2	340527	genome.wustl.edu	37	chrX	71363114	71363114	+	IGR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatctaggtccaaaaggaAgctgctcggctggaaggaac	12	8	12	9	1	1	0	0	0	1	0	3	3	2	3	1	5	3	3	1	5	7	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:71363114A>C	ENST00000373677.1	+	0	3978				NHSL2_ENST00000540800.1_Missense_Mutation_p.K1123T			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCAAAAGGAAGCTGCTCGGC	0.498																																																	0													47	41	43					X																	71363114		692	1591	2283	SO:0001628	intergenic_variant	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807		X.37:g.71363114A>C			B2RN94	Missense_Mutation	SNP	NULL	p.K1123T	ENST00000373677.1	37	c.3368		X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077097	0.76415	.	.	ENSG00000204131	ENST00000540800	T	0.62232	0.04	5.91	5.91	0.95273	.	.	.	.	.	T	0.75774	0.3895	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77593	-0.2530	9	0.59425	D	0.04	.	13.0181	0.58771	1.0:0.0:0.0:0.0	.	1123	F5H593	.	T	1123	ENSP00000444617:K1123T	ENSP00000444617:K1123T	K	+	2	0	NHSL2	71279839	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.177000	0.94849	1.982000	0.57802	0.486000	0.48141	AAG	NHSL2	-	NULL	ENSG00000204131		0.498	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1		0	67	0	A	NM_001013627		71363114	1			no_errors	ENST00000540800	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	C	C	71363114	A	C	71363114	1	2	13	0	1	0	0	0	0	0	0	0	10451	72	3	4		4	NHSL2	23	71363114	IGR	SNP	A	TCGA-IC-A6RE-01A-11D-A33E-09	1460574	71363114	83907446	675	4221											
ATRX	546	genome.wustl.edu	37	chrX	76776325	76776325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttcgtttaacatcaagctCctggctggcttgtctactta	7	16	7	11	1	3	0	1	0	2	0	5	0	4	0	1	2	3	4	1	2	4	6			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:76776325C>T	ENST00000373344.5	-	34	7355	c.7141G>A	c.(7141-7143)Gag>Aag	p.E2381K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2343K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2381					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACATCAAGCTCCTGGCTGGCT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0													150	127	135					X																	76776325		2203	4296	6499	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7141G>A	X.37:g.76776325C>T	ENSP00000362441:p.Glu2381Lys		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E2381K	ENST00000373344.5	37	c.7141	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212330	0.79240	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94497	-3.44;-3.44	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	D	0.95135	0.8258	10	0.38643	T	0.18	.	17.8303	0.88680	0.0:1.0:0.0:0.0	.	2343;2381	P46100-4;P46100	.;ATRX_HUMAN	K	2381;2343	ENSP00000362441:E2381K;ENSP00000378967:E2343K	ENSP00000362441:E2381K	E	-	1	0	ATRX	76662981	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.085000	0.76875	2.143000	0.66587	0.513000	0.50165	GAG	ATRX	-	NULL	ENSG00000085224		0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	-	0	18	0	C	NM_000489		76776325	-1	tier1	-	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	T	T	76776325	C	T	76776325	3	4	13	1	0	0	0	0	1	0	0	0	1209	864	30	3	345	3	ATRX	23	76776325	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	5413211	76776325	78494235	676	4222											
TBX22	50945	genome.wustl.edu	37	chrX	79286419	79286419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatttttctgccaaacTccatcaccccagaagcactt	13	11	4	13	0	2	1	1	0	1	1	3	2	3	1	4	0	3	1	4	0	4	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:79286419T>C	ENST00000373294.5	+	8	1400	c.1372T>C	c.(1372-1374)Tcc>Ccc	p.S458P	TBX22_ENST00000442340.1_Missense_Mutation_p.S338P|TBX22_ENST00000373291.1_Missense_Mutation_p.S338P|TBX22_ENST00000373296.3_Missense_Mutation_p.S458P	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	458					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCTGCCAAACTCCATCACCCC	0.383																																																	0													132	121	124					X																	79286419		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1372T>C	X.37:g.79286419T>C	ENSP00000362390:p.Ser458Pro		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S458P	ENST00000373294.5	37	c.1372	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.024242	0.00414	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	3.96	-4.5	0.03493	.	2.519990	0.01360	N	0.012188	T	0.44561	0.1299	N	0.00500	-1.43	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.47058	-0.9146	10	0.23302	T	0.38	.	7.1817	0.25776	0.0:0.268:0.1286:0.6034	.	458	Q9Y458	TBX22_HUMAN	P	458;338;458;338	ENSP00000362393:S458P;ENSP00000396394:S338P;ENSP00000362390:S458P;ENSP00000362388:S338P	ENSP00000362388:S338P	S	+	1	0	TBX22	79173075	0.070000	0.21116	0.000000	0.03702	0.004000	0.04260	-0.072000	0.11486	-1.560000	0.01686	-0.378000	0.06908	TCC	TBX22	-	NULL	ENSG00000122145		0.383	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	-	0	17	0	T	NM_016954		79286419	1	tier1	-	no_errors	ENST00000373294	ensembl	human	known	74_37	missense	55.56	12	15	SNP	0.023	C	C	79286419	T	C	79286419	3	2	13	1	0	0	0	0	1	0	0	0	15705	1551	54	4	1402	4	TBX22	23	79286419	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	2510094	79286419	75984141	677	4223											
ARMCX3	51566	genome.wustl.edu	37	chrX	100880909	100880909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttgagaacataaatGataatttcaaatgggaagaa	19	12	7	3	0	2	3	2	2	0	2	2	5	2	4	0	1	1	0	0	1	8	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:100880909G>T	ENST00000341189.4	+	5	1806	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_Missense_Mutation_p.D314Y|RP4-545K15.5_ENST00000564612.1_RNA|ARMCX3_ENST00000537169.1_Missense_Mutation_p.D314Y	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	314					cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GAACATAAATGATAATTTCAA	0.353																																																	0													41	43	42					X																	100880909		2196	4287	6483	SO:0001583	missense	0			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"Armadillo repeat containing"	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.940G>T	X.37:g.100880909G>T	ENSP00000340672:p.Asp314Tyr		Q53HC6|Q7LCF5|Q9NPE4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.D314Y	ENST00000341189.4	37	c.940	CCDS14489.1	X	.	.	.	.	.	.	.	.	.	.	G	9.058	0.993804	0.19043	.	.	ENSG00000102401	ENST00000341189;ENST00000537169	T;T	0.32515	1.45;1.45	4.43	4.43	0.53597	Armadillo-type fold (1);	0.258863	0.45606	D	0.000353	T	0.23054	0.0557	N	0.15975	0.35	0.34661	D	0.72266	P	0.36086	0.536	B	0.44224	0.444	T	0.28650	-1.0037	9	.	.	.	-16.2045	11.364	0.49660	0.0:0.0:1.0:0.0	.	314	Q9UH62	ARMX3_HUMAN	Y	314	ENSP00000340672:D314Y;ENSP00000439032:D314Y	.	D	+	1	0	ARMCX3	100767565	1.000000	0.71417	0.994000	0.49952	0.689000	0.40095	1.749000	0.38319	2.454000	0.82982	0.600000	0.82982	GAT	ARMCX3	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000102401		0.353	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2		0	53	0	G	NM_016607		100880909	1			no_errors	ENST00000341189	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.994	T	T	100880909	G	T	100880909	3	4	13	1	0	0	0	0	1	0	0	0	962	1290	45	3	942	3	ARMCX3	23	100880909	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	21594490	100880909	54389651	678	4224											
RGAG1	57529	genome.wustl.edu	37	chrX	109697820	109697820	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactcaagccaggttctGccaacagcctgtaagcggaa	12	6	11	12	1	2	0	1	0	1	0	2	1	2	1	3	3	6	3	3	3	5	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:109697820G>T	ENST00000465301.2	+	3	4221	c.3975G>T	c.(3973-3975)ctG>ctT	p.L1325L	RGAG1_ENST00000540313.1_Silent_p.L1325L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1325										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCAGGTTCTGCCAACAGCCT	0.547																																																	0													46	44	44					X																	109697820		2203	4300	6503	SO:0001819	synonymous_variant	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3975G>T	X.37:g.109697820G>T			Q9P2M8	Silent	SNP	NULL	p.L1325	ENST00000465301.2	37	c.3975	CCDS14552.1	X																																																																																			RGAG1	-	NULL	ENSG00000243978		0.547	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	-	0	25	0	G	NM_020769		109697820	1	tier1	-	no_errors	ENST00000465301	ensembl	human	known	74_37	silent	77.42	7	24	SNP	0.027	T	T	109697820	G	T	109697820	2	4	13	1	0	0	0	0	0	0	0	1	13319	1306	46	3		3	RGAG1	23	109697820	Silent	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	8816911	109697820	45572740	679	4225											
ODZ1	10178	genome.wustl.edu	37	chrX	123657383	123657383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccacaataaactgattcCaaggcaaccagagtgttctc	14	9	6	12	0	1	2	0	1	1	1	3	2	2	2	3	1	3	2	3	1	6	4			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:123657383C>G	ENST00000371130.3	-	17	2927	c.2864G>C	c.(2863-2865)tGg>tCg	p.W955S	TENM1_ENST00000422452.2_Missense_Mutation_p.W955S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	955					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAACTGATTCCAAGGCAACCA	0.483																																																	0													150	124	133					X																	123657383		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2864G>C	X.37:g.123657383C>G	ENSP00000360171:p.Trp955Ser		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.W955S	ENST00000371130.3	37	c.2864	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770655	0.69992	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.12569	2.67;2.67	5.79	4.93	0.64822	.	0.203438	0.45126	D	0.000393	T	0.33673	0.0871	M	0.82323	2.585	0.80722	D	1	P;D;D	0.59767	0.728;0.986;0.984	B;P;P	0.54664	0.138;0.593;0.758	T	0.27123	-1.0083	10	0.72032	D	0.01	.	14.1675	0.65488	0.0:0.9263:0.0:0.0737	.	954;955;955	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	955	ENSP00000360171:W955S;ENSP00000403954:W955S	ENSP00000360171:W955S	W	-	2	0	ODZ1	123485064	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.868000	0.69605	1.210000	0.43336	0.600000	0.82982	TGG	TENM1	-	superfamily_CarboxyPept-like_regulatory	ENSG00000009694		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	54	0	C	NM_014253		123657383	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	G	G	123657383	C	G	123657383	3	3	13	1	0	0	0	0	1	0	0	0	10873	595	21	5	5398	5	ODZ1	23	123657383	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	13959563	123657383	31613177	680	4226											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130218356	130218356	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccccaggttgttgaggcTtgctgccaattcattgaaaa	10	12	9	10	0	1	2	1	2	0	0	2	2	2	2	3	2	2	4	3	2	3	5			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:130218356T>A	ENST00000276211.5	+	5	1068	c.723T>A	c.(721-723)gcT>gcA	p.A241A	ARHGAP36_ENST00000370921.1_Silent_p.A105A|ARHGAP36_ENST00000370922.1_Silent_p.A229A	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	241	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGTTGAGGCTTGCTGCCAAT	0.448																																																	0													41	39	40					X																	130218356		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.723T>A	X.37:g.130218356T>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A241	ENST00000276211.5	37	c.723	CCDS14628.1	X																																																																																			ARHGAP36	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000147256		0.448	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0	37	0	T	NM_144967		130218356	1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	54.17	21	26	SNP	0.800	A	A	130218356	T	A	130218356	2	1	13	1	0	0	0	0	0	0	0	1	883	1596	56	5		5	ARHGAP36	23	130218356	Silent	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	6560973	130218356	25052204	681	4227											
IGSF1	3547	genome.wustl.edu	37	chrX	130417080	130417080	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaaatttgcctcattttTtattgtcttcttgtggtaaa	10	19	7	5	0	3	1	1	0	2	1	3	2	3	1	1	1	1	1	1	1	5	8			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:130417080T>G	ENST00000361420.3	-	6	905	c.826A>C	c.(826-828)Aaa>Caa	p.K276Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.K276Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.K267Q|IGSF1_ENST00000370904.1_Missense_Mutation_p.K267Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	276	Ig-like C2-type 3.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.K276Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCCTCATTTTTTATTGTCTTC	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											112	97	102					X																	130417080		2203	4300	6503	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.826A>C	X.37:g.130417080T>G	ENSP00000355010:p.Lys276Gln		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K276Q	ENST00000361420.3	37	c.826	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	T	7.935	0.741582	0.15642	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00686	5.85;5.85;5.85;5.85	4.64	3.39	0.38822	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.502564	0.17086	N	0.187588	T	0.00524	0.0017	N	0.05306	-0.075	0.23754	N	0.996937	B;P	0.35493	0.277;0.505	B;B	0.39617	0.155;0.305	T	0.52193	-0.8608	10	0.12103	T	0.63	.	6.9188	0.24376	0.0:0.0:0.2329:0.7671	.	267;276	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	Q	267;276;267;276	ENSP00000359947:K267Q;ENSP00000355010:K276Q;ENSP00000359941:K267Q;ENSP00000359940:K276Q	ENSP00000355010:K276Q	K	-	1	0	IGSF1	130244761	0.926000	0.31397	0.985000	0.45067	0.805000	0.45488	1.299000	0.33424	1.846000	0.53633	0.481000	0.45027	AAA	IGSF1	-	smart_Ig_sub	ENSG00000147255		0.403	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	-	0	37	0	T			130417080	-1	tier1	-	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.576	G	G	130417080	T	G	130417080	3	3	13	1	0	0	0	0	1	0	0	0	7623	1850	64	4	3259	4	IGSF1	23	130417080	Missense_Mutation	SNP	T	TCGA-IC-A6RE-01A-11D-A33E-09	198724	130417080	24853480	682	4228											
MAGEA8	4107	genome.wustl.edu	37	chrX	149013830	149013830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaactacctggagtacCgccaggcgcccggcagtgat	10	5	14	12	3	0	2	0	1	0	1	0	4	0	3	4	4	3	2	4	4	3	2			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:149013830C>T	ENST00000542674.1	+	3	1305	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	MAGEA8_ENST00000286482.1_Missense_Mutation_p.R262C|MAGEA8_ENST00000535454.1_Missense_Mutation_p.R262C	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	262	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R262C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGTACCGCCAGGCGCC	0.582																																																	1	Substitution - Missense(1)	lung(1)											109	102	104					X																	149013830		2203	4298	6501	SO:0001583	missense	0				CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"MAGE-8 antigen", "cancer/testis antigen family 1, member 8"	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.784C>T	X.37:g.149013830C>T	ENSP00000443776:p.Arg262Cys		Q9BUN9	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R262C	ENST00000542674.1	37	c.784	CCDS14692.1	X	.	.	.	.	.	.	.	.	.	.	.	13.37	2.216897	0.39201	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.06449	3.3;3.3;3.3	1.0	-0.0909	0.13663	.	1.066030	0.07318	N	0.877049	T	0.23330	0.0564	M	0.87682	2.9	0.18873	N	0.999984	D	0.89917	1.0	D	0.68483	0.958	T	0.09640	-1.0665	10	0.66056	D	0.02	.	3.8134	0.08806	0.421:0.579:0.0:0.0	.	262	P43361	MAGA8_HUMAN	C	262	ENSP00000438293:R262C;ENSP00000443776:R262C;ENSP00000286482:R262C	ENSP00000286482:R262C	R	+	1	0	MAGEA8	148774488	0.002000	0.14202	0.154000	0.22540	0.312000	0.27988	0.246000	0.18160	-0.095000	0.12351	0.190000	0.17370	CGC	MAGEA8	-	pfam_MAGE,pfscan_MAGE	ENSG00000156009		0.582	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA8	HGNC	protein_coding	OTTHUMT00000058728.1	-	0	84	0	C	NM_005364		149013830	1	tier1	-	no_errors	ENST00000286482	ensembl	human	known	74_37	missense	43.84	40	32	SNP	0.134	T	T	149013830	C	T	149013830	3	4	13	1	0	0	0	0	1	0	0	0	9207	652	23	1	786	1	MAGEA8	23	149013830	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	18596750	149013830	6256730	683	4229											
MAGEA4	4103	genome.wustl.edu	37	chrX	151092794	151092794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agggcgacagcgcctctgagGaggaaatctgggaggagctg	10	5	18	8	2	2	1	0	1	2	0	2	6	2	5	1	5	2	1	1	5	1	0			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:151092794G>C	ENST00000360243.2	+	3	925	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	MAGEA4_ENST00000393921.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000393920.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370335.1_Missense_Mutation_p.E220Q|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E220Q	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	220	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTCTGAGGAGGAAATCTG	0.547																																																	0													104	108	107					X																	151092794		2203	4300	6503	SO:0001583	missense	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.658G>C	X.37:g.151092794G>C	ENSP00000353379:p.Glu220Gln		Q14798	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E220Q	ENST00000360243.2	37	c.658	CCDS14702.1	X	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590060	0.46214	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000430273;ENST00000370337;ENST00000441865;ENST00000393920;ENST00000370340;ENST00000416020;ENST00000457310;ENST00000370335;ENST00000360243;ENST00000431971	T;T;T;T;T;T;T;T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54;3.54	2.37	2.37	0.29283	.	0.628911	0.16967	N	0.192268	T	0.24547	0.0595	M	0.87328	2.875	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01688	-1.1295	9	.	.	.	.	7.4975	0.27498	0.0:0.0:1.0:0.0	.	220	P43358	MAGA4_HUMAN	Q	220	ENSP00000276344:E220Q;ENSP00000377498:E220Q;ENSP00000394149:E220Q;ENSP00000359362:E220Q;ENSP00000402624:E220Q;ENSP00000377497:E220Q;ENSP00000359365:E220Q;ENSP00000394073:E220Q;ENSP00000402186:E220Q;ENSP00000359360:E220Q;ENSP00000353379:E220Q;ENSP00000390096:E220Q	.	E	+	1	0	MAGEA4	150843450	0.001000	0.12720	0.027000	0.17364	0.231000	0.25187	-0.024000	0.12435	1.467000	0.48044	0.292000	0.19580	GAG	MAGEA4	-	pfam_MAGE,pfscan_MAGE	ENSG00000147381		0.547	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	-	0	57	0	G	NM_002362		151092794	1	tier1	-	no_errors	ENST00000276344	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.025	C	C	151092794	G	C	151092794	3	2	13	1	0	0	0	0	1	0	0	0	9204	1175	41	5	660	5	MAGEA4	23	151092794	Missense_Mutation	SNP	G	TCGA-IC-A6RE-01A-11D-A33E-09	2078964	151092794	4177766	684	4230											
MECP2	4204	genome.wustl.edu	37	chrX	153296571	153296571	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggatgtggtggccccaccCccctcagccttgccccctgg	3	8	12	18	0	1	0	1	0	0	0	1	1	1	1	8	4	2	0	8	4	0	1			TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:153296571C>A	ENST00000303391.6	-	4	957	c.708G>T	c.(706-708)ggG>ggT	p.G236G	MECP2_ENST00000407218.1_3'UTR|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Silent_p.G248G	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	236					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCCCACCCCCCTCAGCCT	0.602																																																	0													84	87	86					X																	153296571		2203	4300	6503	SO:0001819	synonymous_variant	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.708G>T	X.37:g.153296571C>A			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.G236	ENST00000303391.6	37	c.708	CCDS14741.1	X																																																																																			MECP2	-	superfamily_Ig_E-set,pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.602	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	-	0	68	0	C	NM_004992		153296571	-1	tier1	-	no_errors	ENST00000303391	ensembl	human	known	74_37	silent	21.25	63	17	SNP	0.730	A	A	153296571	C	A	153296571	2	1	13	1	0	0	0	0	0	0	0	1	9461	610	22	3		3	MECP2	23	153296571	Silent	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	2203777	153296571	1973989	685	4231											
TMLHE	55217	genome.wustl.edu	37	chrX	154736754	154736754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catctactagcagtgtcctgCcaccagttccttcatgttta	8	14	6	13	0	2	0	1	0	1	0	4	0	4	0	4	0	3	3	4	0	3	6	rs181549466		TCGA-IC-A6RE-01A-11D-A33E-09	TCGA-IC-A6RE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	409bc915-0434-4e4b-b96b-61465c83580a	f93260cb-2f87-479b-a13f-1b58e222ed2a	g.chrX:154736754C>A	ENST00000334398.3	-	6	945	c.800G>T	c.(799-801)gGc>gTc	p.G267V	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.G267V	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	267					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	CAGTGTCCTGCCACCAGTTCC	0.388																																																	0													119	115	116					X																	154736754		2203	4300	6503	SO:0001583	missense	0			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.800G>T	X.37:g.154736754C>A	ENSP00000335261:p.Gly267Val		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.G267V	ENST00000334398.3	37	c.800	CCDS14768.1	X	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776758	0.70107	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.96885	-4.16;-4.16	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99457	1.0942	10	0.87932	D	0	-9.2168	13.4513	0.61172	0.0:1.0:0.0:0.0	.	267;267;267	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	V	267	ENSP00000335261:G267V;ENSP00000358447:G267V	ENSP00000335261:G267V	G	-	2	0	TMLHE	154389948	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.706000	0.74649	1.822000	0.53115	0.494000	0.49563	GGC	TMLHE	-	pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase	ENSG00000185973		0.388	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	HGNC	protein_coding	OTTHUMT00000058817.1	-	0	38	0	C	NM_018196		154736754	-1	tier1	-	no_errors	ENST00000334398	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	154736754	C	A	154736754	3	1	13	1	0	0	0	0	1	0	0	0	16279	739	26	3	617	3	TMLHE	23	154736754	Missense_Mutation	SNP	C	TCGA-IC-A6RE-01A-11D-A33E-09	1440183	154736754	533806	686	4232											
KIF1B	23095	genome.wustl.edu	37	chr1	10364302	10364302	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggatccccagtttccatGgggctctcaaggaatgagaa	12	9	11	9	0	1	1	1	1	1	1	4	4	3	3	3	4	0	2	3	4	4	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:10364302G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Missense_Mutation_p.W1020L|KIF1B_ENST00000377083.1_Missense_Mutation_p.W1020L|KIF1B_ENST00000263934.6_Intron|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGTTTCCATGGGGCTCTCAA	0.438																																																	0													143	150	148					1																	10364302		2203	4300	6503	SO:0001627	intron_variant	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6998G>T	1.37:g.10364302G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.W1020L	ENST00000377086.1	37	c.3059		1	.	.	.	.	.	.	.	.	.	.	G	4.362	0.066748	0.08388	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.71461	-0.57;-0.57	5.72	4.81	0.61882	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.13407	0.009	T	0.52177	-0.8610	8	0.13853	T	0.58	.	16.195	0.82021	0.0:0.1475:0.8525:0.0	.	1020	O60333-3	.	L	1020	ENSP00000366297:W1020L;ENSP00000366287:W1020L	ENSP00000366287:W1020L	W	+	2	0	KIF1B	10286889	1.000000	0.71417	0.905000	0.35620	0.971000	0.66376	3.789000	0.55454	1.404000	0.46819	0.655000	0.94253	TGG	KIF1B	-	NULL	ENSG00000054523		0.438	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0	56	0	G			10364302	1	tier1	-	no_errors	ENST00000377083	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	10364302	G	T	10364302	1	4	14	0	1	0	0	0	0	0	0	0	8311	1357	47	3		3	KIF1B	1	10364302	Intron	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		10364302	238886319	1	4233											
VPS13D	55187	genome.wustl.edu	37	chr1	12313875	12313875	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggggatttgcctcagatgGagttacaggtacgatttcgg	8	12	15	6	2	1	1	1	0	0	1	2	4	1	3	1	5	3	2	1	5	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:12313875G>T	ENST00000358136.3	+	7	791	c.661G>T	c.(661-663)Gag>Tag	p.E221*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E221*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCCTCAGATGGAGTTACAGGT	0.488																																																	0													192	176	181					1																	12313875		2203	4300	6503	SO:0001587	stop_gained	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.661G>T	1.37:g.12313875G>T	ENSP00000350854:p.Glu221*			Nonsense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E221*	ENST00000358136.3	37	c.661	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.970547	0.97971	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	.	.	.	5.48	5.48	0.80851	.	0.247510	0.38492	N	0.001664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.5582	0.76216	0.0:0.1378:0.8622:0.0	.	.	.	.	X	221	.	ENSP00000348666:E221X	E	+	1	0	VPS13D	12236462	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	3.220000	0.51207	2.560000	0.86352	0.650000	0.86243	GAG	VPS13D	-	NULL	ENSG00000048707		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	46	0	G	NM_015378		12313875	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	12313875	G	T	12313875	4	4	14	1	0	0	0	0	0	1	0	0	17241	1175	41	3	683	3	VPS13D	1	12313875	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1949573	12313875	236936746	2	4234											
NBPF3	84224	genome.wustl.edu	37	chr1	21804677	21804677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaagccccccaggagTcctgggatgaaggtgattgg	10	6	17	8	0	0	2	0	2	0	0	1	6	1	6	4	6	1	0	4	6	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:21804677T>C	ENST00000318249.5	+	9	1383	c.1033T>C	c.(1033-1035)Tcc>Ccc	p.S345P	NBPF3_ENST00000454000.2_Missense_Mutation_p.S275P|NBPF3_ENST00000342104.5_Missense_Mutation_p.S370P|NBPF3_ENST00000318220.6_Missense_Mutation_p.S289P	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	345	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCCCAGGAGTCCTGGGATGA	0.502																																																	0													126	129	128					1																	21804677		2203	4300	6503	SO:0001583	missense	0			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1033T>C	1.37:g.21804677T>C	ENSP00000316782:p.Ser345Pro		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.S345P	ENST00000318249.5	37	c.1033	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	5.050	0.194914	0.09599	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	1.13	-0.213	0.13165	DUF1220 (2);	.	.	.	.	T	0.51991	0.1707	M	0.79475	2.455	0.09310	N	1	B;P;D	0.63880	0.009;0.945;0.993	B;P;D	0.79108	0.025;0.82;0.992	T	0.36890	-0.9729	9	0.49607	T	0.09	.	3.0321	0.06110	0.3944:0.0:0.0:0.6056	.	275;370;345	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	P	275;289;345;289;370;289	ENSP00000415711:S275P;ENSP00000316739:S289P;ENSP00000316782:S345P;ENSP00000340336:S370P;ENSP00000391865:S289P	ENSP00000316739:S289P	S	+	1	0	NBPF3	21677264	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.683000	0.05179	-0.077000	0.12752	0.164000	0.16699	TCC	NBPF3	-	pfam_NBPF_dom	ENSG00000142794		0.502	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		-	0	151	0	T	NM_032264		21804677	1	tier1	-	no_errors	ENST00000318249	ensembl	human	known	74_37	missense	22.22	182	52	SNP	0.001	C	C	21804677	T	C	21804677	3	2	14	1	0	0	0	0	1	0	0	0	10236	1667	58	4	1063	4	NBPF3	1	21804677	Missense_Mutation	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	9490802	21804677	227445944	3	4235											
CSMD2	114784	genome.wustl.edu	37	chr1	34123643	34123643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgtagccagggtcacaCtggaacactgtggagtcgcc	9	6	14	12	3	1	0	1	0	0	0	2	2	1	2	2	3	3	1	2	3	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:34123643C>G	ENST00000373380.1	-	6	1189	c.969G>C	c.(967-969)caG>caC	p.Q323H	CSMD2_ENST00000373381.4_Missense_Mutation_p.Q1450H|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1410						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGGTCACACTGGAACACTG	0.597																																																	0													121	112	115					1																	34123643		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.969G>C	1.37:g.34123643C>G	ENSP00000362478:p.Gln323His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q1450H	ENST00000373380.1	37	c.4350		1	.	.	.	.	.	.	.	.	.	.	c	25.9	4.687600	0.88639	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65178	-0.14;-0.14	5.78	4.86	0.63082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	L	0.42632	1.34	0.80722	D	1	D;D;D	0.67145	0.982;0.996;0.984	D;D;D	0.74348	0.926;0.983;0.95	T	0.71203	-0.4662	10	0.51188	T	0.08	.	14.3628	0.66785	0.0:0.9277:0.0:0.0723	.	323;1410;1450	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	H	1450;323	ENSP00000362479:Q1450H;ENSP00000362478:Q323H	ENSP00000241312:Q1410H	Q	-	3	2	CSMD2	33896230	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.609000	0.46317	2.737000	0.93849	0.558000	0.71614	CAG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.597	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0	10	0	C	NM_052896		34123643	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	G	G	34123643	C	G	34123643	3	3	14	1	0	0	0	0	1	0	0	0	3954	564	20	5	6405	5	CSMD2	1	34123643	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	12318966	34123643	215126978	4	4236											
ZMYM1	79830	genome.wustl.edu	37	chr1	35579635	35579635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatagcagcagaattcaagaAagaagaaccaagagctttat	20	7	8	6	0	1	5	1	0	0	5	1	5	1	5	1	0	4	3	1	0	9	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:35579635A>G	ENST00000373330.1	+	11	2378	c.2204A>G	c.(2203-2205)aAa>aGa	p.K735R	ZMYM1_ENST00000359858.4_Missense_Mutation_p.K735R|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	735						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATTCAAGAAAGAAGAACCA	0.318																																																	0													51	52	51					1																	35579635		1795	4067	5862	SO:0001583	missense	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2204A>G	1.37:g.35579635A>G	ENSP00000362427:p.Lys735Arg		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.K735R	ENST00000373330.1	37	c.2204	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	A	6.582	0.475633	0.12521	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.18960	2.44;2.18;2.44	4.24	4.24	0.50183	Ribonuclease H-like (1);	0.603507	0.14963	N	0.288228	T	0.36880	0.0983	L	0.51422	1.61	0.29585	N	0.848843	D;D	0.63880	0.993;0.978	D;P	0.70935	0.971;0.651	T	0.09509	-1.0671	9	.	.	.	-11.5594	10.0121	0.41992	1.0:0.0:0.0:0.0	.	716;735	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	R	735;660;735	ENSP00000352920:K735R;ENSP00000362426:K660R;ENSP00000362427:K735R	.	K	+	2	0	ZMYM1	35352222	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	5.071000	0.64382	2.138000	0.66242	0.455000	0.32223	AAA	ZMYM1	-	superfamily_RNaseH-like_dom	ENSG00000197056		0.318	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	-	0	39	0	A	NM_024772		35579635	1	tier1	-	no_errors	ENST00000359858	ensembl	human	novel	74_37	missense	25.00	29	10	SNP	1.000	G	G	35579635	A	G	35579635	3	3	14	1	0	0	0	0	1	0	0	0	17747	14	1	4	2238	4	ZMYM1	1	35579635	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	1455992	35579635	213670986	5	4237											
GRIK3	2899	genome.wustl.edu	37	chr1	37271817	37271817	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggactccatgagcagcgcGtagtcggccgtcagggccct	6	7	15	13	4	1	1	1	1	0	0	3	2	2	2	3	3	2	2	3	3	1	1	rs373465990		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:37271817G>T	ENST00000373091.3	-	14	2218	c.2202C>A	c.(2200-2202)taC>taA	p.Y734*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.Y734*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	734					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGAGCAGCGCGTAGTCGGCCG	0.607																																																	0													171	132	145					1																	37271817		2203	4300	6503	SO:0001587	stop_gained	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2202C>A	1.37:g.37271817G>T	ENSP00000362183:p.Tyr734*		A9Z1Z8|B1AMS6|Q13004|Q16136	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y734*	ENST00000373091.3	37	c.2202	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.112077	0.97291	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	5.48	1.43	0.22495	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9704	0.41749	0.2762:0.0:0.7238:0.0	.	.	.	.	X	734	.	ENSP00000362183:Y734X	Y	-	3	2	GRIK3	37044404	0.970000	0.33590	0.986000	0.45419	0.795000	0.44927	0.056000	0.14256	0.007000	0.14760	0.549000	0.68633	TAC	GRIK3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000163873		0.607	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1		0	32	0	G	NM_000831		37271817	-1			no_errors	ENST00000373091	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	37271817	G	T	37271817	4	4	14	1	0	0	0	0	0	1	0	0	6802	1140	40	2	569	2	GRIK3	1	37271817	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1692182	37271817	211978804	6	4238											
KCNQ4	9132	genome.wustl.edu	37	chr1	41285870	41285870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctttgccctgaaggtcCaggagcagcaccggcagaag	9	5	14	13	2	0	2	0	1	0	1	1	3	1	3	4	4	3	4	4	4	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:41285870C>A	ENST00000347132.5	+	7	1061	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Q327K|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	327					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CCTGAAGGTCCAGGAGCAGCA	0.622																																																	0													45	36	39					1																	41285870		2203	4300	6503	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.979C>A	1.37:g.41285870C>A	ENSP00000262916:p.Gln327Lys		O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.Q327K	ENST00000347132.5	37	c.979	CCDS456.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.400401|5.400401	0.96030|0.96030	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.98914	.|-5.23;-5.19	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.056592	.|0.64402	.|D	.|0.000001	D|D	0.98855|0.98855	0.9613|0.9613	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;P	.|0.71674	.|0.998;0.951	.|D;P	.|0.64776	.|0.929;0.673	D|D	0.99785|0.99785	1.1029|1.1029	5|10	.|0.66056	.|D	.|0.02	-22.2164|-22.2164	16.7408|16.7408	0.85459|0.85459	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|327;327	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	Q|K	222|327	.|ENSP00000262916:Q327K;ENSP00000423756:Q327K	.|ENSP00000262916:Q327K	P|Q	+|+	2|1	0|0	KCNQ4|KCNQ4	41058457|41058457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.553000|2.553000	0.86117|0.86117	0.655000|0.655000	0.94253|0.94253	CCA|CAG	KCNQ4	-	NULL	ENSG00000117013		0.622	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1	-	0	25	0	C	NM_004700		41285870	1	tier1	-	no_errors	ENST00000347132	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A	A	41285870	C	A	41285870	3	1	14	1	0	0	0	0	1	0	0	0	8112	595	21	3	1005	3	KCNQ4	1	41285870	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	4014053	41285870	207964751	7	4239											
MUTYH	4595	genome.wustl.edu	37	chr1	45796970	45796970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccagcccatatacttGatatgtcagcttgatgtgag	11	11	10	9	0	1	3	1	3	0	0	1	3	1	3	2	1	3	1	2	1	4	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:45796970G>T	ENST00000372098.3	-	14	1484	c.1351C>A	c.(1351-1353)Caa>Aaa	p.Q451K	MUTYH_ENST00000488731.2_Missense_Mutation_p.Q121K|MUTYH_ENST00000354383.6_Missense_Mutation_p.Q427K|MUTYH_ENST00000372100.5_Missense_Mutation_p.Q437K|MUTYH_ENST00000528332.2_Missense_Mutation_p.Q135K|MUTYH_ENST00000355498.2_Missense_Mutation_p.Q426K|MUTYH_ENST00000372104.1_Missense_Mutation_p.Q426K|MUTYH_ENST00000448481.1_Missense_Mutation_p.Q437K|MUTYH_ENST00000528013.2_Missense_Mutation_p.Q440K|MUTYH_ENST00000372110.3_Missense_Mutation_p.Q441K|MUTYH_ENST00000372115.3_Missense_Mutation_p.Q440K|MUTYH_ENST00000529984.1_Missense_Mutation_p.Q121K|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000450313.1_Missense_Mutation_p.Q454K|MUTYH_ENST00000456914.2_Missense_Mutation_p.Q426K			Q9UIF7	MUTYH_HUMAN	mutY homolog	451	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATATACTTGATATGTCAGC	0.537			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													91	88	89					1																	45796970		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1351C>A	1.37:g.45796970G>T	ENSP00000361170:p.Gln451Lys		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.Q454K	ENST00000372098.3	37	c.1360	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.414686	0.25465	.	.	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	D;D;D;D;D;D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.16	4.23	0.50019	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.263977	0.36066	N	0.002816	D	0.89354	0.6691	L	0.39898	1.24	0.34227	D	0.67613	P;B;B;B;B;B;B;B	0.41102	0.738;0.032;0.001;0.054;0.001;0.066;0.018;0.038	B;B;B;B;B;B;B;B	0.40825	0.341;0.052;0.006;0.111;0.006;0.052;0.032;0.052	D	0.90973	0.4821	10	0.29301	T	0.29	-0.0106	12.2292	0.54478	0.0:0.4391:0.5609:0.0	.	135;454;451;441;451;440;334;427	B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;.;MUTYH_HUMAN;.;.;.	K	121;135;426;437;426;427;426;451;441;440;121;454;437	ENSP00000437093:Q121K;ENSP00000433076:Q135K;ENSP00000361176:Q426K;ENSP00000409718:Q437K;ENSP00000407590:Q426K;ENSP00000346354:Q427K;ENSP00000347685:Q426K;ENSP00000361170:Q451K;ENSP00000361182:Q441K;ENSP00000361187:Q440K;ENSP00000432330:Q121K;ENSP00000408176:Q454K;ENSP00000361172:Q437K	ENSP00000346354:Q427K	Q	-	1	0	MUTYH	45569557	0.999000	0.42202	0.683000	0.30040	0.738000	0.42128	3.392000	0.52537	2.414000	0.81942	0.655000	0.94253	CAA	MUTYH	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000132781		0.537	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	-	0	58	0	G	NM_012222		45796970	-1	tier1	-	no_errors	ENST00000450313	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	45796970	G	T	45796970	3	4	14	1	0	0	0	0	1	0	0	0	10031	1299	45	3	301	3	MUTYH	1	45796970	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	4511100	45796970	203453651	8	4240											
C8A	731	genome.wustl.edu	37	chr1	57373691	57373691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcgaggtggcagttctGgctggagcggtggcttggca	4	9	21	7	2	1	0	0	0	1	0	1	2	1	1	0	8	2	5	0	8	0	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:57373691G>T	ENST00000361249.3	+	9	1381	c.1285G>T	c.(1285-1287)Ggc>Tgc	p.G429C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	429	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGGCAGTTCTGGCTGGAGCGG	0.493																																																	0													141	133	136					1																	57373691		2203	4300	6503	SO:0001583	missense	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1285G>T	1.37:g.57373691G>T	ENSP00000354458:p.Gly429Cys		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G429C	ENST00000361249.3	37	c.1285	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356948	0.61293	.	.	ENSG00000157131	ENST00000361249	D	0.84516	-1.86	6.03	5.12	0.69794	Membrane attack complex component/perforin (MACPF) domain (3);	0.729350	0.13658	N	0.371793	D	0.90618	0.7058	M	0.77103	2.36	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.82129	-0.0610	10	0.62326	D	0.03	-5.9437	6.725	0.23350	0.0694:0.1291:0.6676:0.134	.	429	P07357	CO8A_HUMAN	C	429	ENSP00000354458:G429C	ENSP00000354458:G429C	G	+	1	0	C8A	57146279	0.074000	0.21230	0.724000	0.30704	0.274000	0.26718	2.639000	0.46570	1.539000	0.49286	0.557000	0.71058	GGC	C8A	-	pfam_MACPF,smart_MACPF	ENSG00000157131		0.493	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1		0	38	0	G	NM_000562		57373691	1			no_errors	ENST00000361249	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.010	T	T	57373691	G	T	57373691	3	4	14	1	0	0	0	0	1	0	0	0	2423	1348	47	3	1319	3	C8A	1	57373691	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	11576721	57373691	191876930	9	4241											
BCL9	607	genome.wustl.edu	37	chr1	147084715	147084715	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggaggtgatggtccgTccccctacagtgatgtcccc	8	8	12	13	1	0	2	0	2	0	0	3	3	3	3	5	3	2	1	5	3	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:147084715T>C	ENST00000234739.3	+	5	827	c.87T>C	c.(85-87)cgT>cgC	p.R29R	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	29					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGATGGTCCGTCCCCCTACAG	0.502			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													87	90	89					1																	147084715		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.87T>C	1.37:g.147084715T>C			Q5T489	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.R29	ENST00000234739.3	37	c.87	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.502	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1		0	51	0	T	NM_004326		147084715	1			no_errors	ENST00000234739	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	C	C	147084715	T	C	147084715	2	2	14	1	0	0	0	0	0	0	0	1	1382	1654	58	4		4	BCL9	1	147084715	Silent	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	89711024	147084715	102165906	10	4242											
GOLPH3L	55204	genome.wustl.edu	37	chr1	150621108	150621108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatgagtagtcatgtcaaAtagcaggaaattctgcttct	12	13	10	6	0	4	1	2	1	2	0	4	3	4	3	0	2	2	3	0	2	4	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:150621108A>T	ENST00000271732.3	-	5	591	c.547T>A	c.(547-549)Ttt>Att	p.F183I	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.F139I	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	183	Beta-hairpin required for oligomerization. {ECO:0000250}.				Golgi organization (GO:0007030)|positive regulation of protein secretion (GO:0050714)	Golgi membrane (GO:0000139)|trans-Golgi network membrane (GO:0032588)	phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCATGTCAAATAGCAGGAAA	0.418																																																	0													89	82	84					1																	150621108		2203	4300	6503	SO:0001583	missense	0			AJ296153	CCDS966.1	1q21	2008-02-05			ENSG00000143457	ENSG00000143457			24882	protein-coding gene	gene with protein product		612208					Standard	NM_018178		Approved	GPP34R	uc001evj.2	Q9H4A5	OTTHUMG00000035009	ENST00000271732.3:c.547T>A	1.37:g.150621108A>T	ENSP00000271732:p.Phe183Ile		B1AN09|B7Z6N3|Q9NVK0	Missense_Mutation	SNP	pfam_GPP34	p.F183I	ENST00000271732.3	37	c.547	CCDS966.1	1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830900	0.91036	.	.	ENSG00000143457	ENST00000271732;ENST00000369003;ENST00000540514;ENST00000427665	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.79108	0.992;0.975	D	0.89151	0.3523	9	0.87932	D	0	-11.1721	14.4689	0.67501	1.0:0.0:0.0:0.0	.	139;183	F5H4M3;Q9H4A5	.;GLP3L_HUMAN	I	183;205;139;205	.	ENSP00000271732:F183I	F	-	1	0	GOLPH3L	148887732	1.000000	0.71417	0.974000	0.42286	0.961000	0.63080	8.761000	0.91691	2.285000	0.76669	0.533000	0.62120	TTT	GOLPH3L	-	pfam_GPP34	ENSG00000143457		0.418	GOLPH3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3L	HGNC	protein_coding	OTTHUMT00000084734.1	-	0	16	0	A	NM_018178		150621108	-1	tier1	-	no_errors	ENST00000271732	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.998	T	T	150621108	A	T	150621108	3	4	14	1	0	0	0	0	1	0	0	0	6595	101	4	5	314	5	GOLPH3L	1	150621108	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	3536393	150621108	98629513	11	4243											
NUP210L	91181	genome.wustl.edu	37	chr1	154061967	154061967	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtatactggagttactGacatactggcagggtgggca	9	11	13	8	0	0	1	0	1	0	0	0	2	0	2	1	4	3	4	1	4	4	5	rs199580130		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:154061967G>T	ENST00000368559.3	-	16	2362	c.2291C>A	c.(2290-2292)tCa>tAa	p.S764*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.S764*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	764					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAGTTACTGACATACTGGC	0.493																																																	0													150	147	148					1																	154061967		1965	4157	6122	SO:0001587	stop_gained	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2291C>A	1.37:g.154061967G>T	ENSP00000357547:p.Ser764*		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.S764*	ENST00000368559.3	37	c.2291	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908716	0.92107	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.56	2.66	0.31614	.	0.150260	0.30940	N	0.008580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	0.0073	8.0931	0.30811	0.192:0.0:0.808:0.0	.	.	.	.	X	764	.	ENSP00000271854:S764X	S	-	2	0	NUP210L	152328591	0.997000	0.39634	0.516000	0.27786	0.242000	0.25591	2.982000	0.49337	0.525000	0.28522	-0.384000	0.06662	TCA	NUP210L	-	NULL	ENSG00000143552		0.493	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	-	0	43	0	G	NM_207308		154061967	-1	tier1	-	no_errors	ENST00000368559	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	0.819	T	T	154061967	G	T	154061967	4	4	14	1	0	0	0	0	0	1	0	0	10800	1294	45	3	3475	3	NUP210L	1	154061967	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	3440859	154061967	95188654	12	4244											
ADAR	103	genome.wustl.edu	37	chr1	154560661	154560661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagacagggtagtggcGggattctgtgctttccatag	8	11	14	8	2	1	1	0	0	1	1	3	3	2	2	1	3	1	2	1	3	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:154560661G>T	ENST00000368474.4	-	11	3158	c.2959C>A	c.(2959-2961)Cgc>Agc	p.R987S	ADAR_ENST00000292205.5_Missense_Mutation_p.R1030S|ADAR_ENST00000368471.3_Missense_Mutation_p.R692S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	987	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGTAGTGGCGGGATTCTGTG	0.547																																																	0													202	189	193					1																	154560661		2203	4300	6503	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2959C>A	1.37:g.154560661G>T	ENSP00000357459:p.Arg987Ser		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.R1030S	ENST00000368474.4	37	c.3088	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291579	0.40494	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.14266	2.72;2.72;2.52;2.72	5.44	4.48	0.54585	Adenosine deaminase/editase (3);	0.543163	0.17956	N	0.156345	T	0.11153	0.0272	L	0.41492	1.28	0.25380	N	0.988624	P;P;D	0.76494	0.87;0.931;0.999	B;P;D	0.85130	0.433;0.697;0.997	T	0.12451	-1.0547	10	0.29301	T	0.29	-5.2876	5.5149	0.16900	0.0803:0.1359:0.6434:0.1404	.	942;961;987	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	1030;987;692;956	ENSP00000292205:R1030S;ENSP00000357459:R987S;ENSP00000357456:R692S;ENSP00000431794:R956S	ENSP00000292205:R1030S	R	-	1	0	ADAR	152827285	0.992000	0.36948	0.986000	0.45419	0.348000	0.29142	1.918000	0.40006	1.193000	0.43086	-0.355000	0.07637	CGC	ADAR	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000160710		0.547	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	-	0	48	0	G	NM_001111		154560661	-1	tier1	-	no_errors	ENST00000292205	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.600	T	T	154560661	G	T	154560661	3	4	14	1	0	0	0	0	1	0	0	0	281	1116	39	2	741	2	ADAR	1	154560661	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	498694	154560661	94689960	13	4245											
ARHGEF2	9181	genome.wustl.edu	37	chr1	155936636	155936636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgaccttggtacagttgGcgagggtgtctttacagcgg	6	12	15	8	2	1	1	0	1	1	0	1	2	1	1	1	4	3	3	1	4	2	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:155936636G>A	ENST00000361247.4	-	3	350	c.251C>T	c.(250-252)gCc>gTc	p.A84V	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.A84V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.A57V|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.A85V|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.A129V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.A57V	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	84					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTACAGTTGGCGAGGGTGTC	0.597																																					Melanoma(178;35 2768 6610 28839)												0													200	158	172					1																	155936636		2203	4300	6503	SO:0001583	missense	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.251C>T	1.37:g.155936636G>A	ENSP00000354837:p.Ala84Val		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A85V	ENST00000361247.4	37	c.254	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420981	0.83559	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000435736;ENST00000543433;ENST00000313667	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	4.93	4.93	0.64822	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.43260	D	0.000598	D	0.83087	0.5178	L	0.54323	1.7	0.39076	D	0.960814	P;P;D;P	0.57257	0.672;0.892;0.979;0.934	B;P;P;P	0.51135	0.313;0.459;0.628;0.66	D	0.83423	0.0034	10	0.42905	T	0.14	-25.0149	15.6876	0.77424	0.0:0.0:1.0:0.0	.	129;129;84;84	B7Z977;D3DVA5;Q92974;Q92974-2	.;.;ARHG2_HUMAN;.	V	57;84;85;57;129;57;84	ENSP00000315325:A57V;ENSP00000354837:A84V;ENSP00000357298:A85V;ENSP00000357299:A57V;ENSP00000314787:A84V	ENSP00000314787:A84V	A	-	2	0	ARHGEF2	154203260	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.754000	0.91642	2.551000	0.86045	0.655000	0.94253	GCC	ARHGEF2	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000116584		0.597	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	-	0	15	0	G	NM_004723		155936636	-1	tier1	-	no_errors	ENST00000368315	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	A	A	155936636	G	A	155936636	3	1	14	1	0	0	0	0	1	0	0	0	903	1203	42	3	2789	3	ARHGEF2	1	155936636	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1375975	155936636	93313985	14	4246											
RHBG	57127	genome.wustl.edu	37	chr1	156354355	156354355	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttctggactcccccccCagactcccagcactacgagg	7	7	7	20	1	1	1	0	0	1	1	3	3	3	2	6	2	2	1	6	2	1	2	rs375620360		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:156354355C>A	ENST00000368249.1	+	9	1310	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	RHBG_ENST00000255013.3_Silent_p.P355P|RHBG_ENST00000368246.2_Missense_Mutation_p.P423Q|RHBG_ENST00000400992.2_Silent_p.P392P|RHBG_ENST00000494874.1_Intron	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	424	Interaction with ANK3.				ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ACTCCCCCCCCAGACTCCCAG	0.632											OREG0013871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	78	75					1																	156354355		1989	4159	6148	SO:0001819	synonymous_variant	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.1272C>A	1.37:g.156354355C>A		1777	A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.P423Q	ENST00000368249.1	37	c.1268		1	.	.	.	.	.	.	.	.	.	.	C	5.063	0.197249	0.09599	.	.	ENSG00000132677	ENST00000368246	T	0.19105	2.17	.	.	.	Ammonium transporter AmtB-like (1);	1.228880	0.06099	N	0.665143	T	0.12347	0.0300	.	.	.	0.36535	D	0.870987	P	0.48162	0.906	P	0.47402	0.546	T	0.40421	-0.9564	7	0.46703	T	0.11	-13.372	.	.	.	.	424	Q9H310	RHBG_HUMAN	Q	423	ENSP00000357229:P423Q	ENSP00000357229:P423Q	P	+	2	0	RHBG	154620979	0.054000	0.20591	0.482000	0.27366	0.854000	0.48673	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	CCA	RHBG	-	NULL	ENSG00000132677		0.632	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2		0	48	0	C	NM_001256395		156354355	1			no_errors	ENST00000368246	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.476	A	A	156354355	C	A	156354355	2	1	14	1	0	0	0	0	0	0	0	1	13369	581	21	3		3	RHBG	1	156354355	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	417719	156354355	92896266	15	4247											
NES	10763	genome.wustl.edu	37	chr1	156646344	156646344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttccaacgctgccctgCgctccaggaggcctccgcgc	4	8	11	18	4	1	0	0	0	1	0	4	1	4	1	5	2	3	3	5	2	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:156646344C>T	ENST00000368223.3	-	1	845	c.713G>A	c.(712-714)cGc>cAc	p.R238H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	238	Coil 2B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCTGCCCTGCGCTCCAGGAG	0.716																																																	0													10	11	11					1																	156646344		2192	4291	6483	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.713G>A	1.37:g.156646344C>T	ENSP00000357206:p.Arg238His		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.R238H	ENST00000368223.3	37	c.713	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024675	0.75390	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.88818	-2.43	4.56	3.61	0.41365	Filament (1);	0.000000	0.34853	N	0.003621	D	0.90099	0.6907	L	0.53249	1.67	0.37248	D	0.906446	D	0.89917	1.0	D	0.79784	0.993	D	0.91197	0.4988	10	0.72032	D	0.01	.	12.4274	0.55556	0.1694:0.8306:0.0:0.0	.	238	P48681	NEST_HUMAN	H	238	ENSP00000357206:R238H	ENSP00000255024:R238H	R	-	2	0	NES	154912968	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.113000	0.31184	1.080000	0.41073	0.455000	0.32223	CGC	NES	-	pfam_IF	ENSG00000132688		0.716	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	54	0	C	NM_006617		156646344	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	32.76	39	19	SNP	0.788	T	T	156646344	C	T	156646344	3	4	14	1	0	0	0	0	1	0	0	0	10376	768	27	1	4168	1	NES	1	156646344	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	291989	156646344	92604277	16	4248											
IFI16	3428	genome.wustl.edu	37	chr1	158986377	158986377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaaagggagtaaggtgtccGaggaacagactcagcctccc	12	5	12	12	1	1	1	1	0	0	1	3	4	3	3	4	3	2	1	4	3	3	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:158986377G>C	ENST00000295809.7	+	4	691	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	IFI16_ENST00000368131.4_Missense_Mutation_p.E146Q|IFI16_ENST00000340979.6_Missense_Mutation_p.E146Q|IFI16_ENST00000448393.2_Missense_Mutation_p.E146Q|IFI16_ENST00000430894.2_Intron|IFI16_ENST00000359709.3_Intron|IFI16_ENST00000368132.3_Missense_Mutation_p.E146Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	146	Lys-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAGGTGTCCGAGGAACAGAC	0.502																																																	0													98	89	92					1																	158986377		2203	4300	6503	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.436G>C	1.37:g.158986377G>C	ENSP00000295809:p.Glu146Gln		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.E146Q	ENST00000295809.7	37	c.436		1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.347362	0.00219	.	.	ENSG00000163565	ENST00000359709;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132	T;T;T;T;T	0.16196	2.36;3.73;3.74;3.74;3.74	2.42	-4.85	0.03142	.	.	.	.	.	T	0.01061	0.0035	N	0.03050	-0.425	0.09310	N	1	B;B	0.20368	0.044;0.002	B;B	0.24155	0.051;0.004	T	0.32214	-0.9915	9	0.02654	T	1	.	8.9549	0.35812	0.2054:0.6288:0.1658:0.0	.	146;146	Q16666-2;Q16666	.;IF16_HUMAN	Q	146	ENSP00000407052:E146Q;ENSP00000295809:E146Q;ENSP00000342741:E146Q;ENSP00000357113:E146Q;ENSP00000357114:E146Q	ENSP00000295809:E146Q	E	+	1	0	IFI16	157253001	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.806000	0.00758	-3.456000	0.00160	-2.624000	0.00155	GAG	IFI16	-	NULL	ENSG00000163565		0.502	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0	39	0	G	NM_005531		158986377	1	tier1	-	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.000	C	C	158986377	G	C	158986377	3	2	14	1	0	0	0	0	1	0	0	0	7538	1059	37	5	446	5	IFI16	1	158986377	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2340033	158986377	90264244	17	4249											
SELP	6403	genome.wustl.edu	37	chr1	169586496	169586496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtagtaggagctgtagtagGgtaggaccttattgaggtaa	12	11	15	3	0	0	1	0	1	0	0	0	3	0	3	1	4	1	7	1	4	7	8			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:169586496G>A	ENST00000263686.6	-	3	288	c.251C>T	c.(250-252)cCc>cTc	p.P84L	SELP_ENST00000458599.2_Missense_Mutation_p.P84L|SELP_ENST00000367793.2_Missense_Mutation_p.P84L|SELP_ENST00000367786.2_Missense_Mutation_p.P84L|SELP_ENST00000367792.2_Missense_Mutation_p.P84L|SELP_ENST00000367788.2_Missense_Mutation_p.P84L|SELP_ENST00000367791.2_Missense_Mutation_p.P84L|SELP_ENST00000367794.2_Missense_Mutation_p.P84L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	84	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GCTGTAGTAGGGTAGGACCTT	0.438																																																	0													222	200	208					1																	169586496		2203	4300	6503	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.251C>T	1.37:g.169586496G>A	ENSP00000263686:p.Pro84Leu		Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.P84L	ENST00000263686.6	37	c.251	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219220	0.79464	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.9	5.9	0.94986	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	D	0.000046	T	0.41811	0.1175	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.38866	-0.9641	10	0.72032	D	0.01	-20.7022	17.7661	0.88478	0.0:0.0:1.0:0.0	.	84;84	Q6NUL9;P16109	.;LYAM3_HUMAN	L	84;84;83;84;84;84;84;84;84;84;84;84;69	ENSP00000263686:P84L;ENSP00000356767:P84L;ENSP00000356768:P84L;ENSP00000356766:P84L;ENSP00000356765:P84L;ENSP00000356762:P84L;ENSP00000356760:P84L	ENSP00000263686:P84L	P	-	2	0	SELP	167853120	1.000000	0.71417	0.811000	0.32455	0.483000	0.33249	9.476000	0.97823	2.793000	0.96121	0.563000	0.77884	CCC	SELP	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000174175		0.438	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	-	0	77	0	G	NM_003005		169586496	-1	tier1	-	no_errors	ENST00000263686	ensembl	human	known	74_37	missense	26.09	68	24	SNP	0.998	A	A	169586496	G	A	169586496	3	1	14	1	0	0	0	0	1	0	0	0	14064	1232	43	3	2297	3	SELP	1	169586496	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	10600119	169586496	79664125	18	4250											
PAPPA2	60676	genome.wustl.edu	37	chr1	176659352	176659352	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaagtgggacatgttctGggactctaccatgtctttaa	10	13	10	8	0	3	1	0	1	3	0	3	3	3	3	1	2	1	1	1	2	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:176659352G>T	ENST00000367662.3	+	5	3381	c.2217G>T	c.(2215-2217)ctG>ctT	p.L739L	PAPPA2_ENST00000367661.3_Silent_p.L739L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	739	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GACATGTTCTGGGACTCTACC	0.502																																																	0													123	120	121					1																	176659352		2080	4248	6328	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2217G>T	1.37:g.176659352G>T			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.L739	ENST00000367662.3	37	c.2217	CCDS41438.1	1																																																																																			PAPPA2	-	pfam_Peptidase_M43	ENSG00000116183		0.502	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	35	0	G			176659352	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	31.43	23	11	SNP	1.000	T	T	176659352	G	T	176659352	2	4	14	1	0	0	0	0	0	0	0	1	11472	1335	47	3		3	PAPPA2	1	176659352	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7072856	176659352	72591269	19	4251											
LAMC1	3915	genome.wustl.edu	37	chr1	183094558	183094558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaatctgtatgggaccAtgaagcagcagagcagctgt	12	9	12	8	0	1	2	0	1	1	1	1	3	1	3	1	1	5	6	1	1	3	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:183094558A>T	ENST00000258341.4	+	15	2931	c.2674A>T	c.(2674-2676)Atg>Ttg	p.M892L	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	892	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GTATGGGACCATGAAGCAGCA	0.478																																																	0													144	120	128					1																	183094558		2203	4300	6503	SO:0001583	missense	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2674A>T	1.37:g.183094558A>T	ENSP00000258341:p.Met892Leu		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.M892L	ENST00000258341.4	37	c.2674	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	a	12.69	2.014349	0.35511	.	.	ENSG00000135862	ENST00000258341	T	0.50548	0.74	5.64	-0.592	0.11671	EGF-like, laminin (3);	0.430280	0.26662	N	0.023154	T	0.10078	0.0247	N	0.00210	-1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37337	-0.9710	10	0.15066	T	0.55	.	5.9624	0.19307	0.3983:0.0:0.4851:0.1166	.	892	P11047	LAMC1_HUMAN	L	892	ENSP00000258341:M892L	ENSP00000258341:M892L	M	+	1	0	LAMC1	181361181	0.911000	0.30947	0.000000	0.03702	0.183000	0.23260	1.444000	0.35068	-0.396000	0.07703	-0.140000	0.14226	ATG	LAMC1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000135862		0.478	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	-	0	40	0	A	NM_002293		183094558	1	tier1	-	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	32.08	36	17	SNP	0.002	T	T	183094558	A	T	183094558	3	4	14	1	0	0	0	0	1	0	0	0	8642	217	8	5	2732	5	LAMC1	1	183094558	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	6435206	183094558	66156063	20	4252											
GLT25D2	23127	genome.wustl.edu	37	chr1	183920226	183920226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgcctgtcctttctgcGtttgaggtttatcatgaaaa	7	15	9	10	2	2	2	1	2	1	0	4	2	4	2	3	1	1	2	3	1	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:183920226G>A	ENST00000361927.4	-	8	1422	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	COLGALT2_ENST00000367520.3_Missense_Mutation_p.R88C|COLGALT2_ENST00000546159.1_Missense_Mutation_p.R351C	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	351					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TCCTTTCTGCGTTTGAGGTTT	0.418																																																	0													208	205	206					1																	183920226		2203	4300	6503	SO:0001583	missense	0			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1051C>T	1.37:g.183920226G>A	ENSP00000354960:p.Arg351Cys		O60327|Q9BZR0	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.R351C	ENST00000361927.4	37	c.1051	CCDS1360.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428149	0.83667	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	D;D	0.82255	-1.59;-1.59	5.51	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.92811	0.7714	M	0.94021	3.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.97;0.977;0.982	D	0.94314	0.7548	10	0.87932	D	0	-10.8033	14.7671	0.69648	0.0:0.0:0.8548:0.1452	.	351;351;88	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	C	351;351;88	ENSP00000439112:R351C;ENSP00000354960:R351C	ENSP00000354960:R351C	R	-	1	0	GLT25D2	182186849	1.000000	0.71417	0.989000	0.46669	0.887000	0.51463	4.457000	0.60088	2.579000	0.87056	0.563000	0.77884	CGC	COLGALT2	-	pfam_Glyco_trans_25	ENSG00000198756		0.418	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	HGNC	protein_coding	OTTHUMT00000086128.1	-	0	26	0	G	NM_015101		183920226	-1	tier1	-	no_errors	ENST00000361927	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	A	A	183920226	G	A	183920226	3	1	14	1	0	0	0	0	1	0	0	0	6493	1145	40	1	849	1	GLT25D2	1	183920226	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	825668	183920226	65330395	21	4253											
C1orf26	54823	genome.wustl.edu	37	chr1	185130022	185130022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagacatctcagaggaaaGacaccaccacctcatcaccc	16	4	6	15	0	3	3	3	0	1	3	4	5	3	4	4	1	0	0	4	1	2	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:185130022G>T	ENST00000367500.4	+	2	214	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	SWT1_ENST00000367501.3_Missense_Mutation_p.D17Y	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	17										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCAGAGGAAAGACACCACCAC	0.318																																																	0													81	85	83					1																	185130022		2203	4300	6503	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.49G>T	1.37:g.185130022G>T	ENSP00000356470:p.Asp17Tyr		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PIN_dom	p.D17Y	ENST00000367500.4	37	c.49	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	4.614	0.114083	0.08831	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.42900	0.96;0.96;0.96	5.37	-1.3	0.09259	.	1.043410	0.07578	N	0.919754	T	0.20047	0.0482	N	0.22421	0.69	0.09310	N	1	P	0.42785	0.79	B	0.31751	0.135	T	0.15009	-1.0452	10	0.66056	D	0.02	.	1.0649	0.01608	0.3737:0.1543:0.3239:0.148	.	17	Q5T5J6	SWT1_HUMAN	Y	17	ENSP00000356471:D17Y;ENSP00000356470:D17Y;ENSP00000401413:D17Y	ENSP00000356470:D17Y	D	+	1	0	SWT1	183396645	0.036000	0.19791	0.000000	0.03702	0.007000	0.05969	0.075000	0.14686	-0.410000	0.07542	0.650000	0.86243	GAC	SWT1	-	NULL	ENSG00000116668		0.318	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1		0	28	0	G	NM_017673		185130022	1			no_errors	ENST00000367500	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	185130022	G	T	185130022	3	4	14	1	0	0	0	0	1	0	0	0	2042	942	33	3	51	3	C1orf26	1	185130022	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1209796	185130022	64120599	22	4254											
F13B	2165	genome.wustl.edu	37	chr1	197026309	197026309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagggtggttcctcacaGgctaccttctcctgtccttc	6	13	9	13	0	2	1	1	1	1	0	6	1	4	1	4	3	1	2	4	3	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:197026309G>T	ENST00000367412.1	-	7	1048	c.1005C>A	c.(1003-1005)gcC>gcA	p.A335A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	335	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GTTCCTCACAGGCTACCTTCT	0.398																																																	0													79	76	77					1																	197026309		2203	4300	6503	SO:0001819	synonymous_variant	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1005C>A	1.37:g.197026309G>T			A8K3E5|Q5VYL5	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A335	ENST00000367412.1	37	c.1005	CCDS1388.1	1																																																																																			F13B	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000143278		0.398	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2		0	18	0	G	NM_001994		197026309	-1			no_errors	ENST00000367412	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.018	T	T	197026309	G	T	197026309	2	4	14	1	0	0	0	0	0	0	0	1	5357	987	35	3		3	F13B	1	197026309	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	11896287	197026309	52224312	23	4255											
ASPM	259266	genome.wustl.edu	37	chr1	197093437	197093437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatttcttcctttaattGatctaagttaagggaaatat	13	16	7	5	0	2	1	0	1	2	0	3	2	3	2	1	2	0	2	1	2	6	8			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:197093437G>T	ENST00000367409.4	-	13	3449	c.3193C>A	c.(3193-3195)Caa>Aaa	p.Q1065K	ASPM_ENST00000367408.1_Missense_Mutation_p.Q315K|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1065K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1065					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCCTTTAATTGATCTAAGTTA	0.264																																																	0													53	56	55					1																	197093437		2197	4274	6471	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3193C>A	1.37:g.197093437G>T	ENSP00000356379:p.Gln1065Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.Q1065K	ENST00000367409.4	37	c.3193	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041566	0.75732	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59502	0.26;0.26;0.26	5.53	2.37	0.29283	Calponin homology domain (1);	0.259107	0.33309	N	0.005057	T	0.64305	0.2586	L	0.53729	1.69	0.40456	D	0.980197	P;D	0.57899	0.666;0.981	B;P	0.54924	0.162;0.764	T	0.66752	-0.5844	10	0.36615	T	0.2	.	16.4412	0.83901	0.0:0.3699:0.6301:0.0	.	1065;1065	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	K	1065;1065;315	ENSP00000356379:Q1065K;ENSP00000294732:Q1065K;ENSP00000356378:Q315K	ENSP00000294732:Q1065K	Q	-	1	0	ASPM	195360060	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.614000	0.61183	0.781000	0.33589	0.585000	0.79938	CAA	ASPM	-	superfamily_CH-domain,superfamily_ARM-type_fold	ENSG00000066279		0.264	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1		0	25	0	G	NM_018136		197093437	-1			no_errors	ENST00000367409	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.943	T	T	197093437	G	T	197093437	3	4	14	1	0	0	0	0	1	0	0	0	1057	1299	45	3	7304	3	ASPM	1	197093437	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	67128	197093437	52157184	24	4256											
CYB5R1	51706	genome.wustl.edu	37	chr1	202932829	202932829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggactttcaggatggcccGgatcagctgtagcattgggg	8	9	16	8	1	2	0	2	0	0	0	2	3	2	3	1	6	2	3	1	6	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:202932829G>A	ENST00000367249.4	-	7	660	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	196					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.R196W(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGGATGGCCCGGATCAGCTGT	0.517																																																	1	Substitution - Missense(1)	ovary(1)											127	106	113					1																	202932829		2203	4300	6503	SO:0001583	missense	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.586C>T	1.37:g.202932829G>A	ENSP00000356218:p.Arg196Trp		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	p.R196W	ENST00000367249.4	37	c.586	CCDS1431.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284167	0.80803	.	.	ENSG00000159348	ENST00000367249	D	0.87571	-2.27	5.93	5.01	0.66863	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.351913	0.26026	N	0.026782	D	0.94450	0.8214	H	0.94698	3.57	0.50632	D	0.999884	D	0.76494	0.999	D	0.62955	0.909	D	0.95382	0.8474	10	0.87932	D	0	-5.8142	12.6473	0.56742	0.0795:0.0:0.9205:0.0	.	196	Q9UHQ9	NB5R1_HUMAN	W	196	ENSP00000356218:R196W	ENSP00000356218:R196W	R	-	1	2	CYB5R1	201199452	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	5.838000	0.69388	1.503000	0.48686	0.655000	0.94253	CGG	CYB5R1	-	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Phe_hydroxylase	ENSG00000159348		0.517	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	-	0	56	0	G	NM_016243		202932829	-1	tier1	-	no_errors	ENST00000367249	ensembl	human	known	74_37	missense	31.00	69	31	SNP	1.000	A	A	202932829	G	A	202932829	3	1	14	1	0	0	0	0	1	0	0	0	4135	1115	39	1	343	1	CYB5R1	1	202932829	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	5839392	202932829	46317792	25	4257											
SLC26A9	115019	genome.wustl.edu	37	chr1	205897959	205897959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacctggactcacccgcGttggatttctcccacgatct	6	10	9	16	3	3	0	1	0	2	0	4	3	3	2	4	3	0	1	4	3	0	2	rs375592150		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:205897959G>T	ENST00000367135.3	-	8	1062	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	SLC26A9_ENST00000340781.4_Missense_Mutation_p.R317S|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R317S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	317					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACTCACCCGCGTTGGATTTCT	0.567																																																	0													69	62	64					1																	205897959		2203	4300	6503	SO:0001583	missense	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.949C>A	1.37:g.205897959G>T	ENSP00000356103:p.Arg317Ser		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.R317S	ENST00000367135.3	37	c.949	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266163	0.10294	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.91894	-2.93;-2.93;-2.93	4.88	4.88	0.63580	Sulphate transporter (1);	1.057300	0.07403	N	0.891096	T	0.80763	0.4685	N	0.02775	-0.495	0.09310	N	0.999996	B;B	0.22003	0.004;0.063	B;B	0.23716	0.018;0.048	T	0.61347	-0.7081	10	0.02654	T	1	.	12.6184	0.56590	0.0:0.0:0.8338:0.1662	.	317;317	Q7LBE3;B1AVM8	S26A9_HUMAN;.	S	317	ENSP00000341682:R317S;ENSP00000356103:R317S;ENSP00000356102:R317S	ENSP00000341682:R317S	R	-	1	0	SLC26A9	204164582	0.114000	0.22134	0.857000	0.33713	0.890000	0.51754	1.319000	0.33655	2.258000	0.74832	0.655000	0.94253	CGC	SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000174502		0.567	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1		0	23	0	G	NM_052934		205897959	-1			no_errors	ENST00000340781	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.431	T	T	205897959	G	T	205897959	3	4	14	1	0	0	0	0	1	0	0	0	14569	1145	40	2	1778	2	SLC26A9	1	205897959	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2965130	205897959	43352662	26	4258											
DYRK3	8444	genome.wustl.edu	37	chr1	206821626	206821626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgggtccagctgtttCgagtaccagaagctctacac	9	11	10	11	1	1	1	0	0	1	1	3	3	2	1	2	1	4	4	2	1	3	4	rs200531359		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:206821626C>A	ENST00000367109.2	+	3	1251	c.1083C>A	c.(1081-1083)ttC>ttA	p.F361L	DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.F341L|DYRK3_ENST00000367108.3_Missense_Mutation_p.F341L	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	361	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAGCTGTTTCGAGTACCAGA	0.448																																					Melanoma(164;427 2622 26826 51707)												0													88	96	93					1																	206821626		2203	4300	6503	SO:0001583	missense	0			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"regulatory erythroid kinase", "dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5", "protein kinase Dyrk3"	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1083C>A	1.37:g.206821626C>A	ENSP00000356076:p.Phe361Leu		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F361L	ENST00000367109.2	37	c.1083	CCDS30999.1	1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442350	0.43326	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.63580	-0.05;-0.05;-0.05	5.3	-7.49	0.01355	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.28608	0.87	0.58432	D	0.999999	B;P	0.37398	0.231;0.593	B;B	0.40285	0.325;0.218	T	0.47959	-0.9076	10	0.39692	T	0.17	.	16.712	0.85388	0.0:0.2615:0.0:0.7385	.	361;341	O43781;O43781-2	DYRK3_HUMAN;.	L	361;341;341	ENSP00000356076:F361L;ENSP00000356075:F341L;ENSP00000356073:F341L	ENSP00000356073:F341L	F	+	3	2	DYRK3	204888249	0.001000	0.12720	0.733000	0.30861	0.868000	0.49771	-1.404000	0.02494	-1.437000	0.01967	-0.272000	0.10252	TTC	DYRK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000143479		0.448	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK3	HGNC	protein_coding	OTTHUMT00000088458.1		0	19	0	C	NM_003582		206821626	1			no_errors	ENST00000367109	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.482	A	A	206821626	C	A	206821626	3	1	14	1	0	0	0	0	1	0	0	0	4871	883	31	2	1114	2	DYRK3	1	206821626	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	923667	206821626	42428995	27	4259											
NSL1	25936	genome.wustl.edu	37	chr1	212911901	212911901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttataaagttctcaGgtttagcatctggtttccta	8	18	8	7	0	3	0	1	0	3	0	5	0	4	0	1	2	1	5	1	2	5	7			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:212911901G>T	ENST00000366977.3	-	6	713	c.695C>A	c.(694-696)cCt>cAt	p.P232H	NSL1_ENST00000366976.1_3'UTR|NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366978.1_Intron|NSL1_ENST00000366975.6_Missense_Mutation_p.P191H	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	232					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AAAGTTCTCAGGTTTAGCATC	0.443																																																	0													169	172	171					1																	212911901		2203	4300	6503	SO:0001583	missense	0			AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"chromosome 1 open reading frame 48", "NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.695C>A	1.37:g.212911901G>T	ENSP00000355944:p.Pro232His		E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Missense_Mutation	SNP	pfam_Kinetochore_Mis14	p.P232H	ENST00000366977.3	37	c.695	CCDS1509.1	1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839946	0.32513	.	.	ENSG00000117697	ENST00000366977;ENST00000366975	T;T	0.34667	1.35;1.36	5.25	4.34	0.51931	.	0.669453	0.14180	N	0.336082	T	0.52837	0.1759	M	0.61703	1.905	0.20926	N	0.999822	D;D	0.76494	0.999;0.998	D;P	0.69479	0.964;0.87	T	0.40384	-0.9566	10	0.66056	D	0.02	-4.0E-4	8.033	0.30476	0.1925:0.0:0.8075:0.0	.	191;232	B4E071;Q96IY1	.;NSL1_HUMAN	H	232;191	ENSP00000355944:P232H;ENSP00000355942:P191H	ENSP00000355942:P191H	P	-	2	0	NSL1	210978524	0.371000	0.25056	0.015000	0.15790	0.446000	0.32137	2.050000	0.41297	1.349000	0.45751	-0.266000	0.10368	CCT	NSL1	-	NULL	ENSG00000117697		0.443	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSL1	HGNC	protein_coding	OTTHUMT00000089398.2	-	0	57	0	G	NM_015471		212911901	-1	tier1	-	no_errors	ENST00000366977	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.051	T	T	212911901	G	T	212911901	3	4	14	1	0	0	0	0	1	0	0	0	10712	1000	35	3	154	3	NSL1	1	212911901	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	6090275	212911901	36338720	28	4260											
MARK1	4139	genome.wustl.edu	37	chr1	220791832	220791832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtgtggagtctgggcGtcattctctatacattagtc	7	15	12	7	1	3	0	1	0	2	0	5	2	3	2	0	3	1	0	0	3	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:220791832G>A	ENST00000366917.4	+	8	999	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	MARK1_ENST00000402574.1_Missense_Mutation_p.V110I|MARK1_ENST00000366918.4_Missense_Mutation_p.V223I					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAGTCTGGGCGTCATTCTCTA	0.433																																																	0													90	92	91					1																	220791832		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.733G>A	1.37:g.220791832G>A	ENSP00000355884:p.Val245Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.V245I	ENST00000366917.4	37	c.733	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784315	0.90282	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.27720	1.65;1.65;1.65	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067183	0.64402	D	0.000012	T	0.46308	0.1386	N	0.25485	0.75	0.80722	D	1	D;D;D;D	0.89917	0.997;0.996;1.0;1.0	P;P;D;D	0.80764	0.891;0.826;0.971;0.994	T	0.45308	-0.9270	10	0.87932	D	0	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	245;110;245;223	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	I	110;223;245	ENSP00000386017:V110I;ENSP00000355885:V223I;ENSP00000355884:V245I	ENSP00000355884:V245I	V	+	1	0	MARK1	218858455	1.000000	0.71417	0.992000	0.48379	0.496000	0.33645	7.954000	0.87848	2.709000	0.92574	0.655000	0.94253	GTC	MARK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000116141		0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	46	0	G			220791832	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	24.14	66	21	SNP	1.000	A	A	220791832	G	A	220791832	3	1	14	1	0	0	0	0	1	0	0	0	9350	1145	40	1	763	1	MARK1	1	220791832	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7879931	220791832	28458789	29	4261											
DISP1	84976	genome.wustl.edu	37	chr1	223116506	223116506	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccctctgctttggcctCgtgttgcatgcagccacact	6	11	9	15	1	1	0	0	0	1	0	2	0	1	0	3	1	5	5	3	1	0	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:223116506C>A	ENST00000284476.6	+	2	505	c.341C>A	c.(340-342)tCg>tAg	p.S114*	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Nonsense_Mutation_p.S114*	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	114					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.S114L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCTTTGGCCTCGTGTTGCATG	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)											140	113	122					1																	223116506		2203	4300	6503	SO:0001587	stop_gained	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.341C>A	1.37:g.223116506C>A	ENSP00000284476:p.Ser114*		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Nonsense_Mutation	SNP	NULL	p.S114*	ENST00000284476.6	37	c.341	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.096557	0.97281	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	.	.	.	5.62	5.62	0.85841	.	0.462710	0.21498	N	0.073575	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0437	19.6445	0.95771	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000284476:S114X	S	+	2	0	DISP1	221183129	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	5.596000	0.67570	2.652000	0.90054	0.650000	0.86243	TCG	DISP1	-	NULL	ENSG00000154309		0.542	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1		0	8	0	C	NM_032890		223116506	1			no_errors	ENST00000360254	ensembl	human	putative	74_37	nonsense	5.13	37	2	SNP	0.998	A	A	223116506	C	A	223116506	4	1	14	1	0	0	0	0	0	1	0	0	4553	893	31	2	343	2	DISP1	1	223116506	Nonsense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	2324674	223116506	26134115	30	4262											
ZNF496	84838	genome.wustl.edu	37	chr1	247464284	247464284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaccgagcactcgtgcGgcttctcctgctccctgcgg	4	8	11	18	5	1	0	0	0	1	0	4	1	2	0	3	2	4	4	3	2	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:247464284G>A	ENST00000294753.4	-	9	1765	c.1301C>T	c.(1300-1302)cCg>cTg	p.P434L	ZNF496_ENST00000366498.2_Missense_Mutation_p.P470L|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	434					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCACTCGTGCGGCTTCTCCTG	0.622																																																	0													62	63	63					1																	247464284		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1301C>T	1.37:g.247464284G>A	ENSP00000294753:p.Pro434Leu		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P470L	ENST00000294753.4	37	c.1409	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093583	0.36952	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.17054	2.3;2.3	4.36	1.36	0.22044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.558719	0.16436	N	0.214494	T	0.18383	0.0441	M	0.85777	2.775	0.32751	N	0.506421	B;B	0.34255	0.178;0.445	B;B	0.19391	0.025;0.02	T	0.20672	-1.0268	10	0.87932	D	0	-17.2117	5.875	0.18824	0.1917:0.1641:0.6442:0.0	.	470;434	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	L	434;470	ENSP00000294753:P434L;ENSP00000355454:P470L	ENSP00000294753:P434L	P	-	2	0	ZNF496	245530907	1.000000	0.71417	0.327000	0.25402	0.956000	0.61745	3.866000	0.56040	0.541000	0.28827	0.655000	0.94253	CCG	ZNF496	-	pfscan_Znf_C2H2	ENSG00000162714		0.622	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	35	0	G	NM_032752		247464284	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.348	A	A	247464284	G	A	247464284	3	1	14	1	0	0	0	0	1	0	0	0	17993	1116	39	1	466	1	ZNF496	1	247464284	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	24347778	247464284	1786337	31	4263											
OR2G3	81469	genome.wustl.edu	37	chr1	247769044	247769044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcatctcatatctggatCcccctcttcataccccaatg	9	13	3	16	0	6	0	4	0	3	0	8	1	7	1	4	1	1	0	4	1	3	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:247769044C>A	ENST00000320002.2	+	1	189	c.157C>A	c.(157-159)Ccc>Acc	p.P53T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATATCTGGATCCCCCTCTTCA	0.453																																																	0													271	265	267					1																	247769044		2203	4300	6503	SO:0001583	missense	0			BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"GPCR / Class A : Olfactory receptors"	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.157C>A	1.37:g.247769044C>A	ENSP00000326301:p.Pro53Thr		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P53T	ENST00000320002.2	37	c.157	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	C	7.878	0.729523	0.15507	.	.	ENSG00000177476	ENST00000320002	T	0.03982	3.74	3.57	-2.27	0.06846	GPCR, rhodopsin-like superfamily (1);	0.214360	0.22806	U	0.055401	T	0.05090	0.0136	M	0.62723	1.935	0.09310	N	1	B	0.23540	0.087	B	0.26969	0.075	T	0.28586	-1.0039	10	0.45353	T	0.12	.	4.5252	0.11978	0.0:0.2939:0.3047:0.4014	.	53	Q8NGZ4	OR2G3_HUMAN	T	53	ENSP00000326301:P53T	ENSP00000326301:P53T	P	+	1	0	OR2G3	245835667	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-1.548000	0.02184	-0.621000	0.05633	0.486000	0.48141	CCC	OR2G3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177476		0.453	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	HGNC	protein_coding	OTTHUMT00000097624.1	-	0	34	0	C			247769044	1	tier1	-	no_errors	ENST00000320002	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	A	A	247769044	C	A	247769044	3	1	14	1	0	0	0	0	1	0	0	0	11038	855	30	3	159	3	OR2G3	1	247769044	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	304760	247769044	1481577	32	4264											
TRIM58	25893	genome.wustl.edu	37	chr1	248039251	248039251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgagtctgctcttgacCgccgacctgcgcagtgtgca	6	8	11	16	4	2	1	0	1	2	0	2	3	2	1	4	0	3	3	4	0	0	1	rs201527424	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr1:248039251C>T	ENST00000366481.3	+	6	969	c.921C>T	c.(919-921)acC>acT	p.T307T	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	307	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTCTTGACCGCCGACCTGC	0.572																																																	0													76	71	73					1																	248039251		2203	4300	6503	SO:0001819	synonymous_variant	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.921C>T	1.37:g.248039251C>T			Q6B0H9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T307	ENST00000366481.3	37	c.921	CCDS1636.1	1																																																																																			TRIM58	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162722		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	-	0	35	0	C	NM_015431		248039251	1	tier1	-	no_errors	ENST00000366481	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.000	T	T	248039251	C	T	248039251	2	4	14	1	0	0	0	0	0	0	0	1	16579	639	23	1		1	TRIM58	1	248039251	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	270207	248039251	1211370	33	4265											
TAF1B	9014	genome.wustl.edu	37	chr2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A																															aagccctcaaccgggggcttINSaaaaaaaaaaacaatactgg																								rs528368939		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																																	1	Insertion - Frameshift(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs		B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS	pfam_TF_Rrn7	p.N65fs	ENST00000263663.5	37	c.186_187	CCDS33143.1	2																																																																																			TAF1B	-	NULL	ENSG00000115750		0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2		0	23	0	-	NM_005680		9989571	1	tier1		no_errors	ENST00000263663	ensembl	human	known	74_37	frame_shift_ins	16.13	26	5	INS	0.992:0.991	A	A	9989571	-	A	9989570	7	5	14	1	0	1	1	0	0	0	0	0	15567	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-IC-A6RF-01A-13D-A33E-09		9989570	233209803	34	4266											
LTBP1	4052	genome.wustl.edu	37	chr2	33359997	33359997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagaatggtcatgctgccGacaccctgacggccacgaac	10	6	12	13	3	1	2	1	2	0	1	1	5	1	2	3	2	3	1	3	2	2	0	rs375749254		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:33359997G>A	ENST00000404816.2	+	5	1524	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N	LTBP1_ENST00000407925.1_Missense_Mutation_p.D65N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D65N|LTBP1_ENST00000402934.1_Missense_Mutation_p.D65N|LTBP1_ENST00000354476.3_Missense_Mutation_p.D391N|LTBP1_ENST00000418533.2_Missense_Mutation_p.D65N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D65N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	391					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCATGCTGCCGACACCCTGAC	0.522																																																	0													88	73	78					2																	33359997		2203	4300	6503	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1171G>A	2.37:g.33359997G>A	ENSP00000386043:p.Asp391Asn		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.D391N	ENST00000404816.2	37	c.1171	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	33	5.200913	0.94997	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000432635;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925	D;D;D;D;D;D;D	0.86230	-2.09;-2.04;-1.72;-1.69;-1.71;-1.69;-1.69	5.71	5.71	0.89125	.	.	.	.	.	D	0.93180	0.7828	M	0.67397	2.05	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0	D;D;P;D;D;D	0.91635	0.998;0.999;0.875;0.999;0.999;0.999	D	0.93288	0.6666	9	0.87932	D	0	.	19.854	0.96750	0.0:0.0:1.0:0.0	.	391;65;65;65;65;391	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	N	391;391;80;65;65;65;65;65	ENSP00000386043:D391N;ENSP00000346467:D391N;ENSP00000374653:D65N;ENSP00000393057:D65N;ENSP00000384373:D65N;ENSP00000385359:D65N;ENSP00000384091:D65N	ENSP00000346467:D391N	D	+	1	0	LTBP1	33213501	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.890000	0.87313	2.699000	0.92147	0.462000	0.41574	GAC	LTBP1	-	NULL	ENSG00000049323		0.522	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	18	0	G	NM_206943		33359997	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	A	A	33359997	G	A	33359997	3	1	14	1	0	0	0	0	1	0	0	0	9108	1058	37	1	1244	1	LTBP1	2	33359997	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	23370427	33359997	209839376	35	4267											
NRXN1	9378	genome.wustl.edu	37	chr2	50758518	50758518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccgtatgcatgactacggGgagctgaattttcataaaca	12	11	9	9	2	1	2	1	2	0	0	2	3	2	3	1	2	4	3	1	2	5	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:50758518G>T	ENST00000406316.2	-	11	3670	c.2194C>A	c.(2194-2196)Ccc>Acc	p.P732T	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.P732T|NRXN1_ENST00000404971.1_Missense_Mutation_p.P772T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P732T|NRXN1_ENST00000405472.3_Missense_Mutation_p.P724T|NRXN1_ENST00000402717.3_Missense_Mutation_p.P724T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	732	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGACTACGGGGAGCTGAATT	0.453																																																	0													49	51	50					2																	50758518		1970	4185	6155	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2194C>A	2.37:g.50758518G>T	ENSP00000384311:p.Pro732Thr		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.P724T	ENST00000406316.2	37	c.2170	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561332	0.65538	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.77406	2.37	0.58432	D	0.99999	P;D;P	0.89917	0.747;1.0;0.838	P;D;P	0.91635	0.528;0.999;0.494	D	0.84040	0.0364	10	0.10636	T	0.68	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	772;732;724	Q9ULB1-3;F8WB18;A7E294	.;.;.	T	772;732;724;732;773;724;732	ENSP00000385142:P772T;ENSP00000384311:P732T;ENSP00000434015:P724T;ENSP00000385017:P732T;ENSP00000385434:P724T;ENSP00000385681:P732T	ENSP00000385017:P732T	P	-	1	0	NRXN1	50612022	1.000000	0.71417	0.985000	0.45067	0.266000	0.26442	7.846000	0.86887	2.871000	0.98454	0.655000	0.94253	CCC	NRXN1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000179915		0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	31	0	G			50758518	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	50758518	G	T	50758518	3	4	14	1	0	0	0	0	1	0	0	0	10704	1232	43	3	2644	3	NRXN1	2	50758518	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	17398521	50758518	192440855	36	4268											
CCDC85A	114800	genome.wustl.edu	37	chr2	56420423	56420423	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccagcccggagcacctcaAacaacattatggagggagcc	13	4	10	14	1	1	0	1	0	0	0	1	3	1	3	4	3	5	1	4	3	3	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:56420423A>T	ENST00000407595.2	+	2	1590	c.1088A>T	c.(1087-1089)aAa>aTa	p.K363I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	363	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGCACCTCAAACAACATTAT	0.637																																																	0													26	31	29					2																	56420423		2157	4273	6430	SO:0001583	missense	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1088A>T	2.37:g.56420423A>T	ENSP00000384040:p.Lys363Ile			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.K363I	ENST00000407595.2	37	c.1088	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313347	0.60414	.	.	ENSG00000055813	ENST00000407595	.	.	.	5.18	5.18	0.71444	.	0.261937	0.40640	N	0.001060	T	0.62792	0.2457	L	0.44542	1.39	0.80722	D	1	D	0.67145	0.996	P	0.59703	0.862	T	0.65841	-0.6070	9	0.72032	D	0.01	-35.2096	9.5458	0.39279	0.9209:0.0:0.0791:0.0	.	363	Q96PX6	CC85A_HUMAN	I	363	.	ENSP00000384040:K363I	K	+	2	0	CCDC85A	56273927	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.847000	0.69451	1.956000	0.56807	0.377000	0.23210	AAA	CCDC85A	-	NULL	ENSG00000055813		0.637	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	-	0	27	0	A			56420423	1	tier1	-	no_errors	ENST00000407595	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	T	T	56420423	A	T	56420423	3	4	14	1	0	0	0	0	1	0	0	0	2866	14	1	5	1094	5	CCDC85A	2	56420423	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	5661905	56420423	186778950	37	4269											
ANKRD53	79998	genome.wustl.edu	37	chr2	71211838	71211838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaataccaagcaagcccGggccaccgccctctccaaga	11	4	7	19	2	1	1	0	0	1	1	3	1	2	1	7	1	3	1	7	1	5	1	rs545687883	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:71211838G>A	ENST00000360589.3	+	6	1035	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	ANKRD53_ENST00000272421.6_3'UTR|ANKRD53_ENST00000441349.1_3'UTR|ANKRD53_ENST00000457410.1_Missense_Mutation_p.R300Q|AC007040.11_ENST00000606025.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	334										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						AAGCAAGCCCGGGCCACCGCC	0.587											OREG0014687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													51	59	57					2																	71211838		692	1591	2283	SO:0001583	missense	0			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"Ankyrin repeat domain containing"	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.1001G>A	2.37:g.71211838G>A	ENSP00000353796:p.Arg334Gln	1128	Q8IYP8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R334Q	ENST00000360589.3	37	c.1001	CCDS46321.1	2	.	.	.	.	.	.	.	.	.	.	G	3.861	-0.029918	0.07543	.	.	ENSG00000144031	ENST00000457410;ENST00000360589	T;T	0.63255	0.05;-0.03	4.6	-2.59	0.06209	.	1.910350	0.02603	N	0.101241	T	0.34745	0.0908	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.26326	-1.0106	10	0.07813	T	0.8	-0.5391	5.5927	0.17309	0.4989:0.1423:0.3588:0.0	.	334	Q8N9V6	ANR53_HUMAN	Q	300;334	ENSP00000407004:R300Q;ENSP00000353796:R334Q	ENSP00000353796:R334Q	R	+	2	0	ANKRD53	71065346	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.192000	0.03052	-0.693000	0.05121	-1.224000	0.01588	CGG	ANKRD53	-	NULL	ENSG00000144031		0.587	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD53	HGNC	protein_coding	OTTHUMT00000330275.2	-	0	61	0	G	NM_024933		71211838	1	tier1	-	no_errors	ENST00000360589	ensembl	human	putative	74_37	missense	18.89	73	17	SNP	0.000	A	A	71211838	G	A	71211838	3	1	14	1	0	0	0	0	1	0	0	0	679	1116	39	1	1154	1	ANKRD53	2	71211838	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	14791415	71211838	171987535	38	4270											
ANKRD23	200539	genome.wustl.edu	37	chr2	97507832	97507833	+	Frame_Shift_Del	DEL	TG	TG	-																															aggtttcctgggggggactcTgtgtctcagtcgctttttcc																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:97507832_97507833delTG	ENST00000318357.4	-	3	305_306	c.264_265delCA	c.(262-267)cacagafs	p.HR88fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.HR88fs|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.HR88fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	88					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GGGGGGACTCTGTGTCTCAGTC	0.525																																																	0																																										SO:0001589	frameshift_variant	0				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"Ankyrin repeat domain containing"	24470	protein-coding gene	gene with protein product	"diabetes related ankyrin repeat protein"	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.264_265delCA	2.37:g.97507834_97507835delTG	ENSP00000321679:p.His88fs		Q711K7|Q8NAJ7	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H88fs	ENST00000318357.4	37	c.265_264	CCDS2027.1	2																																																																																			ANKRD23	-	NULL	ENSG00000163126		0.525	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD23	HGNC	protein_coding	OTTHUMT00000252956.1		0	61	0	TG	NM_144994		97507833	-1	tier1		no_errors	ENST00000318357	ensembl	human	known	74_37	frame_shift_del	22.12	81	23	DEL	0.830:0.775	-	-	97507833	TG	-	97507832	7	5	14	1	0	1	0	1	0	0	0	0	652	1588	55	0	680	0	ANKRD23	2	97507832	Frame_Shift_Del	DEL	TG	TCGA-IC-A6RF-01A-13D-A33E-09	26295994	97507832	145691541	39	4271											
ACOXL	55289	genome.wustl.edu	37	chr2	111542371	111542371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtcctctccatggcGgacatggccacaggagtgaa	11	6	14	10	1	1	2	0	1	1	1	3	5	2	4	3	5	0	0	3	5	2	0	rs375666693		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:111542371G>A	ENST00000389811.4	+	3	362	c.138G>A	c.(136-138)gcG>gcA	p.A46A	ACOXL_ENST00000439055.1_Silent_p.A46A|ACOXL_ENST00000340561.4_Silent_p.A46A			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	46					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TCTCCATGGCGGACATGGCCA	0.483													G|||	1	0.000199681	0	0	5008	,	,		15526	0.001		0	False		,,,				2504	0																0								G		1,3811		0,1,1905	56	59	58		138	-9.4	0	2		58	0,8278		0,0,4139	no	coding-synonymous	ACOXL	NM_001142807.1		0,1,6044	AA,AG,GG		0.0,0.0262,0.0083		46/581	111542371	1,12089	1906	4139	6045	SO:0001819	synonymous_variant	0				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.138G>A	2.37:g.111542371G>A			A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	p.A46	ENST00000389811.4	37	c.138		2																																																																																			ACOXL	-	superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	ENSG00000153093		0.483	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	ACOXL	HGNC	protein_coding	OTTHUMT00000254024.2	-	0	29	0	G	NM_018308		111542371	1	tier1	-	no_errors	ENST00000439055	ensembl	human	known	74_37	silent	40.43	28	19	SNP	0.003	A	A	111542371	G	A	111542371	2	1	14	1	0	0	0	0	0	0	0	1	161	1103	39	1		1	ACOXL	2	111542371	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	14034539	111542371	131657002	40	4272											
POLR1B	84172	genome.wustl.edu	37	chr2	113306968	113306968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccagagggcctggttataCtcagtatggtaagttctgga	11	11	12	7	0	2	1	1	0	1	1	2	2	2	2	2	4	2	4	2	4	5	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:113306968C>A	ENST00000263331.5	+	4	1197	c.617C>A	c.(616-618)aCt>aAt	p.T206N	POLR1B_ENST00000541869.1_Missense_Mutation_p.T244N|POLR1B_ENST00000417433.2_Missense_Mutation_p.T150N|POLR1B_ENST00000409894.3_Missense_Mutation_p.T206N|POLR1B_ENST00000537335.1_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	206					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CCTGGTTATACTCAGTATGGT	0.318																																					Ovarian(16;256 576 9537 23969 41147)												0													36	38	37					2																	113306968		2203	4300	6503	SO:0001583	missense	0			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.617C>A	2.37:g.113306968C>A	ENSP00000263331:p.Thr206Asn		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.T244N	ENST00000263331.5	37	c.731	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430163	0.83776	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.48	4.6	0.57074	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.995;1.0	D;D;D;D	0.97110	0.993;0.995;0.988;1.0	D	0.91866	0.5503	10	0.66056	D	0.02	-25.2384	13.3107	0.60378	0.0:0.9227:0.0:0.0773	.	244;206;150;206	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	N	206;244;206;150	ENSP00000263331:T206N;ENSP00000444136:T244N;ENSP00000387143:T206N;ENSP00000405358:T150N	ENSP00000263331:T206N	T	+	2	0	POLR1B	113023439	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.763000	0.85283	1.320000	0.45209	0.655000	0.94253	ACT	POLR1B	-	pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2	ENSG00000125630		0.318	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	-	0	73	0	C	NM_019014		113306968	1	tier1	-	no_errors	ENST00000541869	ensembl	human	known	74_37	missense	27.27	88	33	SNP	1.000	A	A	113306968	C	A	113306968	3	1	14	1	0	0	0	0	1	0	0	0	12249	565	20	3	631	3	POLR1B	2	113306968	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1764597	113306968	129892405	41	4273											
GLI2	2736	genome.wustl.edu	37	chr2	121744178	121744178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaccaagctgcctcccCtcccgggaagtggtgagtaa	10	6	12	13	1	0	1	0	1	0	0	2	3	2	3	5	3	3	2	5	3	4	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:121744178C>A	ENST00000452319.1	+	13	2341	c.2281C>A	c.(2281-2283)Ctc>Atc	p.L761I	GLI2_ENST00000314490.11_Missense_Mutation_p.L433I|GLI2_ENST00000361492.4_Missense_Mutation_p.L761I					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTGCCTCCCCTCCCGGGAAG	0.607																																																	0													58	61	60					2																	121744178		2203	4300	6503	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.2281C>A	2.37:g.121744178C>A	ENSP00000390436:p.Leu761Ile			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L761I	ENST00000452319.1	37	c.2281	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538184	0.27475	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	D;D;T	0.92249	-3.0;-3.0;2.01	4.98	4.03	0.46877	.	0.049434	0.85682	D	0.000000	T	0.78413	0.4279	N	0.02916	-0.46	0.39432	D	0.967106	B;B;B;B	0.12013	0.005;0.003;0.005;0.001	B;B;B;B	0.17979	0.003;0.01;0.02;0.003	T	0.73433	-0.3984	10	0.14252	T	0.57	.	10.7046	0.45948	0.3755:0.6245:0.0:0.0	.	761;416;416;433	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	I	761;761;433	ENSP00000390436:L761I;ENSP00000354586:L761I;ENSP00000312694:L433I	ENSP00000312694:L433I	L	+	1	0	GLI2	121460648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.688000	0.74557	2.582000	0.87167	0.655000	0.94253	CTC	GLI2	-	NULL	ENSG00000074047		0.607	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	-	0	32	0	C	NM_005270		121744178	1	tier1	-	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	121744178	C	A	121744178	3	1	14	1	0	0	0	0	1	0	0	0	6464	681	24	3	2327	3	GLI2	2	121744178	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	8437210	121744178	121455195	42	4274											
POTEF	728378	genome.wustl.edu	37	chr2	130832231	130832231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgggcagctcgtagctCttctctagggaggagctgga	7	9	14	11	2	2	0	0	0	2	0	5	3	2	3	1	4	3	5	1	4	2	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:130832231C>A	ENST00000409914.2	-	17	3213	c.2814G>T	c.(2812-2814)aaG>aaT	p.K938N	POTEF_ENST00000357462.5_Missense_Mutation_p.K938N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	938	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCTCGTAGCTCTTCTCTAGGG	0.607																																																	0													26	29	28					2																	130832231		2069	4143	6212	SO:0001583	missense	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2814G>T	2.37:g.130832231C>A	ENSP00000386786:p.Lys938Asn		A6NC34	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.K938N	ENST00000409914.2	37	c.2814	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	15.66	2.898038	0.52227	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.94687	-3.49;-3.49	.	.	.	.	.	.	.	.	D	0.96926	0.8996	M	0.93678	3.445	0.80722	D	1	D	0.60160	0.987	D	0.65773	0.938	D	0.94767	0.7941	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	938	A5A3E0	POTEF_HUMAN	N	938	ENSP00000350052:K938N;ENSP00000386786:K938N	ENSP00000350052:K938N	K	-	3	2	POTEF	130548701	1.000000	0.71417	0.251000	0.24312	0.254000	0.26022	3.696000	0.54757	0.119000	0.18210	0.121000	0.15741	AAG	POTEF	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000196604		0.607	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	-	0	46	0	C	NM_001099771		130832231	-1	tier1	-	no_errors	ENST00000357462	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	A	A	130832231	C	A	130832231	3	1	14	1	0	0	0	0	1	0	0	0	12304	912	32	3	417	3	POTEF	2	130832231	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	9088053	130832231	112367142	43	4275											
ZRANB3	84083	genome.wustl.edu	37	chr2	135960485	135960485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacactggcttgatgtgatCcacctgccagaaatgtcctt	10	12	8	11	0	0	3	0	2	0	1	2	3	2	3	4	1	2	1	4	1	2	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:135960485C>A	ENST00000264159.6	-	20	3174	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	ZRANB3_ENST00000536680.1_Missense_Mutation_p.D1018Y|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.D1018Y	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1020	Endonuclease activity.|HNH.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTGATGTGATCCACCTGCCAG	0.453																																																	0													76	75	75					2																	135960485		1953	4149	6102	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.3058G>T	2.37:g.135960485C>A	ENSP00000264159:p.Asp1020Tyr		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D1020Y	ENST00000264159.6	37	c.3058	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910701	0.92107	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.98633	-5.02;-5.04;-5.0	5.47	5.47	0.80525	HNH nuclease (1);HNH endonuclease (1);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97782	1.0233	10	0.87932	D	0	-13.6926	19.3172	0.94220	0.0:1.0:0.0:0.0	.	1020;1018	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Y	483;483;1018;1020;1018	ENSP00000383979:D1018Y;ENSP00000264159:D1020Y;ENSP00000441320:D1018Y	ENSP00000264159:D1020Y	D	-	1	0	ZRANB3	135676955	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.727000	0.84838	2.553000	0.86117	0.563000	0.77884	GAT	ZRANB3	-	pfam_HNH,smart_HNH_nuc	ENSG00000121988		0.453	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1		0	23	0	C	NM_032143		135960485	-1			no_errors	ENST00000264159	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	135960485	C	A	135960485	3	1	14	1	0	0	0	0	1	0	0	0	18272	855	30	3	189	3	ZRANB3	2	135960485	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	5128254	135960485	107238888	44	4276											
LRP1B	53353	genome.wustl.edu	37	chr2	142012201	142012201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattcagctgttggcaattgGataacagttctgtagagaaa	14	12	10	5	0	2	1	1	0	1	1	2	3	2	2	0	2	2	5	0	2	5	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:142012201G>T	ENST00000389484.3	-	4	1324	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	118	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGGCAATTGGATAACAGTTC	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													106	94	98					2																	142012201		2201	4297	6498	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.353C>A	2.37:g.142012201G>T	ENSP00000374135:p.Ser118Tyr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S118Y	ENST00000389484.3	37	c.353	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	5.287	0.238298	0.10023	.	.	ENSG00000168702	ENST00000389484	D	0.97598	-4.45	5.52	4.64	0.57946	Growth factor, receptor (1);	0.643151	0.14998	U	0.286264	D	0.92041	0.7478	N	0.08118	0	0.09310	N	0.999998	B	0.18863	0.031	B	0.17098	0.017	D	0.84339	0.0526	10	0.41790	T	0.15	.	14.0678	0.64841	0.0726:0.0:0.9274:0.0	.	118	Q9NZR2	LRP1B_HUMAN	Y	118	ENSP00000374135:S118Y	ENSP00000374135:S118Y	S	-	2	0	LRP1B	141728671	0.997000	0.39634	0.571000	0.28486	0.134000	0.20937	4.605000	0.61119	1.321000	0.45227	0.467000	0.42956	TCC	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0	18	0	G	NM_018557		142012201	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.027	T	T	142012201	G	T	142012201	3	4	14	1	0	0	0	0	1	0	0	0	8990	1174	41	3	13798	3	LRP1B	2	142012201	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	6051716	142012201	101187172	45	4277											
ZEB2	9839	genome.wustl.edu	37	chr2	145157786	145157786	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgtgcgaactgtaggaaCcagaatgggagaaacgtttc	13	9	13	6	2	0	3	0	1	0	2	1	6	0	4	1	2	4	2	1	2	5	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:145157786C>G	ENST00000558170.2	-	8	2152	c.968G>C	c.(967-969)gGt>gCt	p.G323A	ZEB2_ENST00000303660.4_Missense_Mutation_p.G323A|ZEB2_ENST00000409487.3_Missense_Mutation_p.G323A|ZEB2_ENST00000539609.3_Missense_Mutation_p.G299A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	323					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTGTAGGAACCAGAATGGGA	0.373																																					Melanoma(33;1235 1264 5755 16332)												0													49	52	51					2																	145157786		2202	4300	6502	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.968G>C	2.37:g.145157786C>G	ENSP00000454157:p.Gly323Ala		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.G323A	ENST00000558170.2	37	c.968	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488221	0.64074	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.64	5.64	0.86602	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	N	0.12637	0.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	1.0;0.999;0.995;0.995	T	0.16988	-1.0384	10	0.72032	D	0.01	-8.38	19.7156	0.96119	0.0:1.0:0.0:0.0	.	299;188;322;323	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	A	318;299;323;323;323;323	ENSP00000443792:G299A;ENSP00000302501:G323A;ENSP00000386854:G323A;ENSP00000395496:G323A;ENSP00000376601:G323A	ENSP00000302501:G323A	G	-	2	0	ZEB2	144874256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.658000	0.90341	0.655000	0.94253	GGT	ZEB2	-	smart_Znf_C2H2-like	ENSG00000169554		0.373	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5		0	36	0	C	NM_014795		145157786	-1			no_errors	ENST00000303660	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	G	G	145157786	C	G	145157786	3	3	14	1	0	0	0	0	1	0	0	0	17672	507	18	5	2688	5	ZEB2	2	145157786	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3145585	145157786	98041587	46	4278											
SLC4A10	57282	genome.wustl.edu	37	chr2	162751223	162751223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctataaagctaaagatcGtaatgacttggtatcaggaa	15	11	9	6	1	1	2	1	1	0	1	2	3	1	3	1	2	2	3	1	2	8	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:162751223G>A	ENST00000446997.1	+	11	1322	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	SLC4A10_ENST00000415876.2_Missense_Mutation_p.R380H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.V381I|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R391H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R410H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R380H	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	410					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GCTAAAGATCGTAATGACTTG	0.328																																																	0													114	104	107					2																	162751223		1824	4078	5902	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1229G>A	2.37:g.162751223G>A	ENSP00000393066:p.Arg410His		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.R410H	ENST00000446997.1	37	c.1229	CCDS54411.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.343665|5.343665	0.95783|0.95783	.|.	.|.	ENSG00000144290|ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711|ENST00000535165	T;T;T;T;T|T	0.70399|0.53640	-0.48;-0.48;-0.48;-0.48;-0.48|0.61	5.43|5.43	5.43|5.43	0.79202|0.79202	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79423|0.79423	0.4443|0.4443	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;0.996;1.0;0.998|.	D|D	0.84666|0.84666	0.0709|0.0709	10|7	0.87932|0.59425	D|D	0|0.04	.|.	19.6166|19.6166	0.95636|0.95636	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	391;410;380;410|.	F8W675;E7EW28;Q6U841-2;Q6U841|.	.;.;.;S4A10_HUMAN|.	H|I	391;380;380;379;410;410;409|381	ENSP00000364664:R391H;ENSP00000395797:R380H;ENSP00000272716:R380H;ENSP00000393066:R410H;ENSP00000404486:R410H|ENSP00000437527:V381I	ENSP00000272716:R380H|ENSP00000437527:V381I	R|V	+|+	2|1	0|0	SLC4A10|SLC4A10	162459469|162459469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.813000|9.813000	0.99286|0.99286	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	CGT|GTA	SLC4A10	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.328	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	-	0	92	0	G	NM_022058		162751223	1	tier1	-	no_errors	ENST00000446997	ensembl	human	known	74_37	missense	42.50	69	51	SNP	1.000	A	A	162751223	G	A	162751223	3	1	14	1	0	0	0	0	1	0	0	0	14696	1145	40	1	1356	1	SLC4A10	2	162751223	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	17593437	162751223	80448150	47	4279											
TTN	7273	genome.wustl.edu	37	chr2	179412140	179412140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttatttttcttaccaaatgGatgttcagcaattattggtg	10	19	7	5	0	2	0	1	0	1	0	2	1	2	1	1	2	2	2	1	2	5	8			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:179412140G>C	ENST00000591111.1	-	289	89514	c.89290C>G	c.(89290-89292)Cca>Gca	p.P29764A	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22532A|TTN_ENST00000359218.5_Missense_Mutation_p.P22465A|TTN_ENST00000460472.2_Missense_Mutation_p.P22340A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P28837A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P31405A|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29764	Fibronectin type-III 116. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACCAAATGGATGTTCAGCA	0.303																																																	0													33	30	31					2																	179412140		1810	4079	5889	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89290C>G	2.37:g.179412140G>C	ENSP00000465570:p.Pro29764Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P28837A	ENST00000591111.1	37	c.86509		2	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716755	0.48622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	6.03	5.13	0.70059	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51856	0.1699	L	0.59967	1.855	0.80722	D	1	P;P;P;P	0.48294	0.908;0.908;0.908;0.908	B;B;B;B	0.41860	0.368;0.368;0.368;0.368	T	0.58989	-0.7538	9	0.87932	D	0	.	14.4639	0.67470	0.0727:0.0:0.9273:0.0	.	22340;22465;22532;29764	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	28837;22340;22532;22465;22337	ENSP00000343764:P28837A;ENSP00000434586:P22340A;ENSP00000340554:P22532A;ENSP00000352154:P22465A	ENSP00000340554:P22532A	P	-	1	0	TTN	179120386	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.029000	0.88807	1.486000	0.48398	0.655000	0.94253	CCA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.303	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	26	0	G	NM_133378		179412140	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	C	C	179412140	G	C	179412140	3	2	14	1	0	0	0	0	1	0	0	0	16784	1174	41	5	13862	5	TTN	2	179412140	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	16660917	179412140	63787233	48	4280											
TTN	7273	genome.wustl.edu	37	chr2	179643819	179643819	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctttctccatgtttgatGcgcttgccatctttgtacca	6	18	6	11	1	3	1	0	1	3	0	4	1	3	1	3	0	3	3	3	0	2	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:179643819G>T	ENST00000591111.1	-	24	4214	c.3990C>A	c.(3988-3990)cgC>cgA	p.R1330R	TTN_ENST00000360870.5_Silent_p.R1330R|TTN_ENST00000342175.6_Silent_p.R1284R|TTN_ENST00000359218.5_Silent_p.R1284R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Silent_p.R1284R|TTN_ENST00000342992.6_Silent_p.R1330R|TTN_ENST00000589042.1_Silent_p.R1330R			Q8WZ42	TITIN_HUMAN	titin	33527	Ig-like 5.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTTTGATGCGCTTGCCAT	0.358																																																	0													118	104	109					2																	179643819		2203	4300	6503	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3990C>A	2.37:g.179643819G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1330	ENST00000591111.1	37	c.3990		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	15	0	G	NM_133378		179643819	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.998	T	T	179643819	G	T	179643819	2	4	14	1	0	0	0	0	0	0	0	1	16784	1306	46	3		3	TTN	2	179643819	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	231679	179643819	63555554	49	4281											
TTN	7273	genome.wustl.edu	37	chr2	179647087	179647087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtaaggcgcggcaggttCtccaggccctgcttgttcct	7	10	12	12	2	1	0	0	0	1	0	3	0	2	0	3	4	1	5	3	4	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:179647087C>T	ENST00000591111.1	-	20	3456	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	TTN_ENST00000360870.5_Missense_Mutation_p.E1078K|TTN_ENST00000342175.6_Missense_Mutation_p.E1032K|TTN_ENST00000359218.5_Missense_Mutation_p.E1032K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E1032K|TTN_ENST00000342992.6_Missense_Mutation_p.E1078K|TTN_ENST00000589042.1_Missense_Mutation_p.E1078K			Q8WZ42	TITIN_HUMAN	titin	32618					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGGCAGGTTCTCCAGGCCCT	0.507																																																	0													53	56	55					2																	179647087		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3232G>A	2.37:g.179647087C>T	ENSP00000465570:p.Glu1078Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E1078K	ENST00000591111.1	37	c.3232		2	.	.	.	.	.	.	.	.	.	.	C	16.96	3.265526	0.59431	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64803	-0.12;0.1;0.07;0.06;0.22	5.6	5.6	0.85130	Ribonuclease H-like (1);	.	.	.	.	T	0.70876	0.3274	L	0.34521	1.04	0.40019	D	0.975383	P;P;P;P;D	0.69078	0.953;0.953;0.953;0.953;0.997	P;P;P;P;D	0.63033	0.551;0.551;0.551;0.551;0.91	T	0.73607	-0.3929	9	0.87932	D	0	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	1032;1032;1032;1078;1078	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1078;1032;1032;1032;1032;1078	ENSP00000343764:E1078K;ENSP00000434586:E1032K;ENSP00000340554:E1032K;ENSP00000352154:E1032K;ENSP00000354117:E1078K	ENSP00000340554:E1032K	E	-	1	0	TTN	179355332	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	5.754000	0.68743	2.808000	0.96608	0.650000	0.86243	GAA	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	28	0	C	NM_133378		179647087	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	52.78	17	19	SNP	1.000	T	T	179647087	C	T	179647087	3	4	14	1	0	0	0	0	1	0	0	0	16784	922	32	3	108128	3	TTN	2	179647087	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3268	179647087	63552286	50	4282											
SLC40A1	30061	genome.wustl.edu	37	chr2	190426823	190426823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatcaagaagatagttCatggagttctgtacaccatt	15	11	9	6	0	3	4	2	0	1	4	3	5	3	5	1	1	1	3	1	1	5	5	rs200982250		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:190426823C>A	ENST00000261024.2	-	8	1923	c.1497G>T	c.(1495-1497)atG>atT	p.M499I		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	499					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAAGATAGTTCATGGAGTTCT	0.388																																																	0													84	80	81					2																	190426823		2203	4300	6503	SO:0001583	missense	0			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1497G>T	2.37:g.190426823C>A	ENSP00000261024:p.Met499Ile		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	p.M499I	ENST00000261024.2	37	c.1497	CCDS2299.1	2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551371	0.86127	.	.	ENSG00000138449	ENST00000261024	D	0.93906	-3.31	5.92	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94102	0.8109	L	0.54323	1.7	0.80722	D	1	D	0.59767	0.986	P	0.55577	0.779	D	0.93148	0.6547	10	0.41790	T	0.15	-19.8013	15.5026	0.75713	0.0:0.9327:0.0:0.0673	.	499	Q9NP59	S40A1_HUMAN	I	499	ENSP00000261024:M499I	ENSP00000261024:M499I	M	-	3	0	SLC40A1	190135068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.999000	0.70665	2.814000	0.96858	0.585000	0.79938	ATG	SLC40A1	-	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	ENSG00000138449		0.388	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	-	0	35	0	C			190426823	-1	tier1	-	no_errors	ENST00000261024	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	190426823	C	A	190426823	3	1	14	1	0	0	0	0	1	0	0	0	14673	826	29	3	222	3	SLC40A1	2	190426823	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	10779736	190426823	52772550	51	4283											
CASP8	841	genome.wustl.edu	37	chr2	202137430	202137431	+	Frame_Shift_Del	DEL	AA	AA	-																															aaggaaagttggacatcctgAaaagagtctgtgcccaaatc																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:202137430_202137431delAA	ENST00000432109.2	+	5	670_671	c.481_482delAA	c.(481-483)aaafs	p.K161fs	CASP8_ENST00000392258.3_Frame_Shift_Del_p.K161fs|CASP8_ENST00000264275.5_Frame_Shift_Del_p.K193fs|CASP8_ENST00000392259.2_Frame_Shift_Del_p.K161fs|CASP8_ENST00000392266.3_Frame_Shift_Del_p.K161fs|CASP8_ENST00000358485.4_Frame_Shift_Del_p.K220fs|CASP8_ENST00000264274.9_Frame_Shift_Del_p.K161fs|CASP8_ENST00000323492.7_Frame_Shift_Del_p.K161fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	161	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GGACATCCTGAAAAGAGTCTGT	0.441										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0																																										SO:0001589	frameshift_variant	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.481_482delAA	2.37:g.202137432_202137433delAA	ENSP00000412523:p.Lys161fs		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Del	DEL	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R221fs	ENST00000432109.2	37	c.658_659	CCDS2342.1	2																																																																																			CASP8	-	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	ENSG00000064012		0.441	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2		0	48	0	AA	NM_001228		202137431	1	tier1		no_errors	ENST00000358485	ensembl	human	known	74_37	frame_shift_del	43.55	35	27	DEL	0.994:0.984	-	-	202137431	AA	-	202137430	7	5	14	1	0	1	0	1	0	0	0	0	2684	247	9	0	772	0	CASP8	2	202137430	Frame_Shift_Del	DEL	AA	TCGA-IC-A6RF-01A-13D-A33E-09	11710607	202137430	41061943	52	4284											
NDUFS1	4719	genome.wustl.edu	37	chr2	207012367	207012367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcggctcctatcatttcCaaacatcatggactggtcct	11	12	6	12	1	2	0	2	0	0	0	6	1	5	1	3	3	1	1	3	3	3	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:207012367C>T	ENST00000233190.6	-	7	705	c.439G>A	c.(439-441)Gga>Aga	p.G147R	NDUFS1_ENST00000440274.1_Missense_Mutation_p.G111R|NDUFS1_ENST00000455934.2_Missense_Mutation_p.G161R|NDUFS1_ENST00000432169.1_Missense_Mutation_p.G36R|NDUFS1_ENST00000423725.1_Missense_Mutation_p.G90R|NDUFS1_ENST00000449699.1_Missense_Mutation_p.G147R|NDUFS1_ENST00000457011.1_Missense_Mutation_p.G31R	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	147					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATCATTTCCAAACATCATG	0.383																																																	0													132	114	120					2																	207012367		2203	4300	6503	SO:0001583	missense	0				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7707	protein-coding gene	gene with protein product	"complex I 75kDa subunit", "NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"	157655	"NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.439G>A	2.37:g.207012367C>T	ENSP00000233190:p.Gly147Arg		B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu	p.G161R	ENST00000233190.6	37	c.481	CCDS2366.1	2	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956423	0.92726	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.76	4.76	0.60689	NADH:ubiquinone oxidoreductase, subunit G, iron-sulphur binding (2);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.94101	3.495	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95275	0.8381	10	0.87932	D	0	-15.687	18.1342	0.89612	0.0:1.0:0.0:0.0	.	36;111;161;147	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	R	147;90;31;111;161;147;36	ENSP00000233190:G147R;ENSP00000397760:G90R;ENSP00000400976:G31R;ENSP00000409766:G111R;ENSP00000392709:G161R;ENSP00000399912:G147R;ENSP00000409689:G36R	ENSP00000233190:G147R	G	-	1	0	NDUFS1	206720612	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.776000	0.85560	2.332000	0.79248	0.591000	0.81541	GGA	NDUFS1	-	pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,tigrfam_NADH_UbQ_OxRdtase_Gsu	ENSG00000023228		0.383	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS1	HGNC	protein_coding	OTTHUMT00000256391.4	-	0	50	0	C	NM_005006		207012367	-1	tier1	-	no_errors	ENST00000455934	ensembl	human	known	74_37	missense	5.26	108	6	SNP	1.000	T	T	207012367	C	T	207012367	3	4	14	1	0	0	0	0	1	0	0	0	10330	603	21	3	1796	3	NDUFS1	2	207012367	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	4874937	207012367	36187006	53	4285											
GIGYF2	26058	genome.wustl.edu	37	chr2	233651859	233651859	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatattattttctttataGggagaccaaattttgaggaa	14	15	7	5	0	1	2	0	1	1	1	1	4	1	3	2	2	0	0	2	2	6	9			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:233651859G>T	ENST00000409547.1	+	11	843		c.e11-1		GIGYF2_ENST00000373566.3_Splice_Site|GIGYF2_ENST00000409196.3_Splice_Site|GIGYF2_ENST00000409480.1_Splice_Site|GIGYF2_ENST00000409451.3_Splice_Site|GIGYF2_ENST00000452341.2_Splice_Site|GIGYF2_ENST00000373563.4_Splice_Site	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTCTTTATAGGGAGACCAAA	0.398																																																	0													61	63	63					2																	233651859		2203	4300	6503	SO:0001630	splice_region_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.533-1G>T	2.37:g.233651859G>T			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Splice_Site	SNP	-	e8-1	ENST00000409547.1	37	c.599-1	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704067	0.68615	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0345	0.97552	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GIGYF2	233360103	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	3.486000	0.53215	2.797000	0.96272	0.655000	0.94253	.	GIGYF2	-	-	ENSG00000204120		0.398	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2		0	34	0	G	NM_001103146	Intron	233651859	1			no_errors	ENST00000373566	ensembl	human	known	74_37	splice_site	5.26	54	3	SNP	1.000	T	T	233651859	G	T	233651859	5	4	14	1	0	0	0	0	0	0	1	0	6404	1014	35	3	628	3	GIGYF2	2	233651859	Splice_Site	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	26639492	233651859	9547514	54	4286											
ANO7	50636	genome.wustl.edu	37	chr2	242149770	242149770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgccatcatggccatcGtggtgtccaggtcgggcaac	7	8	13	13	3	1	0	1	0	0	0	4	0	2	0	4	4	2	1	4	4	1	0	rs148053897		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:242149770G>T	ENST00000274979.8	+	14	1685	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	ANO7_ENST00000402430.3_Missense_Mutation_p.V527L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	528					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CATGGCCATCGTGGTGTCCAG	0.677																																																	0													111	88	96					2																	242149770		2203	4300	6503	SO:0001583	missense	0			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	31677	protein-coding gene	gene with protein product		605096	"transmembrane protein 16G"	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1582G>T	2.37:g.242149770G>T	ENSP00000274979:p.Val528Leu		Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.V528L	ENST00000274979.8	37	c.1582	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	G	3.450	-0.112191	0.06881	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.63744	-0.06;-0.06	3.38	-3.41	0.04839	.	1.183530	0.06297	N	0.700150	T	0.33030	0.0849	N	0.05330	-0.07	0.21697	N	0.999589	B	0.10296	0.003	B	0.12837	0.008	T	0.10590	-1.0623	10	0.20046	T	0.44	.	2.0883	0.03650	0.2899:0.1491:0.4221:0.1389	.	528	Q6IWH7	ANO7_HUMAN	L	528;527	ENSP00000274979:V528L;ENSP00000385418:V527L	ENSP00000274979:V528L	V	+	1	0	ANO7	241798443	0.000000	0.05858	0.296000	0.24974	0.650000	0.38633	-1.448000	0.02394	-0.503000	0.06586	-0.802000	0.03209	GTG	ANO7	-	pfam_Anoctamin	ENSG00000146205		0.677	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	-	0	28	0	G	NM_001001891		242149770	1	tier1	-	no_errors	ENST00000274979	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.724	T	T	242149770	G	T	242149770	3	4	14	1	0	0	0	0	1	0	0	0	702	1145	40	2	1708	2	ANO7	2	242149770	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	8497911	242149770	1049603	55	4287											
HDLBP	3069	genome.wustl.edu	37	chr2	242192401	242192401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcttcccaatgaggtgcCtgtggaacttgtggtcgatg	6	12	13	10	2	1	1	0	1	1	0	3	3	2	2	2	3	2	1	2	3	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr2:242192401C>G	ENST00000391975.1	-	11	1570	c.1343G>C	c.(1342-1344)aGg>aCg	p.R448T	HDLBP_ENST00000427183.2_Missense_Mutation_p.R415T|HDLBP_ENST00000310931.4_Missense_Mutation_p.R448T|HDLBP_ENST00000476807.1_5'Flank|HDLBP_ENST00000391976.2_Missense_Mutation_p.R448T	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	448	KH 5. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AATGAGGTGCCTGTGGAACTT	0.572																																																	0													195	154	168					2																	242192401		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1343G>C	2.37:g.242192401C>G	ENSP00000375836:p.Arg448Thr		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R448T	ENST00000391975.1	37	c.1343	CCDS2547.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.9|26.9|26.9	4.781205|4.781205|4.781205	0.90282|0.90282|0.90282	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000453141|ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|.|T;T;T;T	.|.|0.32272	.|.|1.46;1.46;1.46;1.46	5.49|5.49|5.49	4.62|4.62|4.62	0.57501|0.57501|0.57501	.|.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.60470|0.60470|0.60470	0.2271|0.2271|0.2271	M|M|M	0.90309|0.90309|0.90309	3.105|3.105|3.105	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D	.|.|0.71674	.|.|0.998;0.998	.|.|D;D	.|.|0.74023	.|.|0.978;0.982	T|T|T	0.66933|0.66933|0.66933	-0.5798|-0.5798|-0.5798	5|5|10	.|.|0.45353	.|.|T	.|.|0.12	-26.1744|-26.1744|-26.1744	12.9947|12.9947|12.9947	0.58640|0.58640|0.58640	0.0:0.9248:0.0:0.0751|0.0:0.9248:0.0:0.0751|0.0:0.9248:0.0:0.0751	.|.|.	.|.|415;448	.|.|E7EM71;Q00341	.|.|.;VIGLN_HUMAN	R|H|T	326|256|448;448;448;415	.|.|ENSP00000375836:R448T;ENSP00000375837:R448T;ENSP00000312042:R448T;ENSP00000399139:R415T	.|.|ENSP00000312042:R448T	G|Q|R	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241841074|241841074|241841074	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.988000|0.988000|0.988000	0.46212|0.46212|0.46212	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.051000|7.051000|7.051000	0.76627|0.76627|0.76627	1.460000|1.460000|1.460000	0.47911|0.47911|0.47911	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|CAG|AGG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.572	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0	37	0	C	NM_203346		242192401	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G	G	242192401	C	G	242192401	3	3	14	1	0	0	0	0	1	0	0	0	7052	681	24	5	2535	5	HDLBP	2	242192401	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	42631	242192401	1006972	56	4288											
EDEM1	9695	genome.wustl.edu	37	chr3	5241344	5241344	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacacagtttcatttgacaAagattccaccgtccaagtct	13	11	5	12	1	2	2	1	1	1	1	4	2	4	2	3	0	1	1	3	0	3	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:5241344A>C	ENST00000256497.4	+	3	783	c.650A>C	c.(649-651)aAa>aCa	p.K217T	EDEM1_ENST00000445686.1_Missense_Mutation_p.K22T	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	217					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCATTTGACAAAGATTCCACC	0.338																																																	0													93	90	91					3																	5241344		2203	4300	6503	SO:0001583	missense	0			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.650A>C	3.37:g.5241344A>C	ENSP00000256497:p.Lys217Thr		A8K9C8|B4DXP3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.K217T	ENST00000256497.4	37	c.650	CCDS33686.1	3	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188406	0.38609	.	.	ENSG00000134109	ENST00000256497;ENST00000445686	T;T	0.71698	-0.59;-0.59	5.19	-1.49	0.08718	.	0.094127	0.64402	D	0.000001	T	0.53802	0.1819	L	0.47016	1.485	0.58432	D	0.999999	B	0.15930	0.015	B	0.16289	0.015	T	0.26503	-1.0101	10	0.15499	T	0.54	-9.5058	6.8391	0.23953	0.568:0.1163:0.3156:0.0	.	217	Q92611	EDEM1_HUMAN	T	217;22	ENSP00000256497:K217T;ENSP00000394099:K22T	ENSP00000256497:K217T	K	+	2	0	EDEM1	5216344	1.000000	0.71417	0.981000	0.43875	0.963000	0.63663	1.928000	0.40104	-0.538000	0.06281	-1.080000	0.02220	AAA	EDEM1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000134109		0.338	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	HGNC	protein_coding	OTTHUMT00000337566.2	-	0	67	0	A	NM_014674		5241344	1	tier1	-	no_errors	ENST00000256497	ensembl	human	known	74_37	missense	34.31	67	35	SNP	0.999	C	C	5241344	A	C	5241344	3	2	14	1	0	0	0	0	1	0	0	0	4925	14	1	4	660	4	EDEM1	3	5241344	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09		5241344	192781086	57	4289											
CHCHD4	131474	genome.wustl.edu	37	chr3	14163429	14163429	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaaccttcctcagctcCagctctgtggtagtacctgg	9	10	8	14	0	2	0	1	0	1	0	4	0	4	0	4	2	5	4	4	2	4	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:14163429C>A	ENST00000396914.3	-	1	204				CHCHD4_ENST00000295767.5_Nonsense_Mutation_p.G17*	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						TCCTCAGCTCCAGCTCTGTGG	0.463																																																	0													122	99	107					3																	14163429		2203	4300	6503	SO:0001627	intron_variant	0			BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"Coiled-coil-helix-coiled-coil-helix domain containing"	26467	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)", "mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.22+2725G>T	3.37:g.14163429C>A			A8K3Z9|Q96AI2|Q96MY6	Nonsense_Mutation	SNP	pfam_CHCH	p.G17*	ENST00000396914.3	37	c.49	CCDS43054.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262962	0.80358	.	.	ENSG00000163528	ENST00000295767	.	.	.	0.597	-0.446	0.12238	.	0.343862	0.33813	U	0.004537	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	.	.	.	.	.	.	.	X	17	.	ENSP00000295767:G17X	G	-	1	0	CHCHD4	14138430	0.000000	0.05858	0.030000	0.17652	0.263000	0.26337	-0.615000	0.05597	-0.253000	0.09514	0.313000	0.20887	GGA	CHCHD4	-	NULL	ENSG00000163528		0.463	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD4	HGNC	protein_coding	OTTHUMT00000340423.1	-	0	29	0	C	NM_144636		14163429	-1	tier1	-	no_errors	ENST00000295767	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	0.043	A	A	14163429	C	A	14163429	1	1	14	0	1	0	0	0	0	0	0	0	3325	603	21	3		3	CHCHD4	3	14163429	Intron	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	8922085	14163429	183859001	58	4290											
CLASP2	23122	genome.wustl.edu	37	chr3	33648229	33648229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcttcaccaggaaagtgGtttctaagacccatgtatgt	11	12	9	9	0	3	1	2	0	1	1	3	2	3	2	2	2	1	3	2	2	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:33648229G>T	ENST00000468888.2	-	16	1597	c.1551C>A	c.(1549-1551)aaC>aaA	p.N517K	CLASP2_ENST00000359576.5_Missense_Mutation_p.N516K|CLASP2_ENST00000333778.6_Missense_Mutation_p.N293K|CLASP2_ENST00000307312.7_Missense_Mutation_p.N5K|CLASP2_ENST00000461133.3_Missense_Mutation_p.N283K|CLASP2_ENST00000539981.1_Missense_Mutation_p.N268K|CLASP2_ENST00000399362.4_Missense_Mutation_p.N516K|CLASP2_ENST00000313350.6_Missense_Mutation_p.N289K|CLASP2_ENST00000480013.1_Missense_Mutation_p.N283K|CLASP2_ENST00000487200.1_Missense_Mutation_p.N289K			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	283	Interaction with microtubules, MAPRE1 and MAPRE3.|Ser-rich.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAGGAAAGTGGTTTCTAAGAC	0.353																																																	0													138	136	137					3																	33648229		1834	4075	5909	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1551C>A	3.37:g.33648229G>T	ENSP00000419974:p.Asn517Lys		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.N516K	ENST00000468888.2	37	c.1548		3	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380453	0.42207	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778	T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.05	4.17	0.49024	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.094681	0.64402	D	0.000001	T	0.24314	0.0589	N	0.20881	0.62	0.41420	D	0.98779	B;P;P;B;B	0.48998	0.249;0.918;0.578;0.048;0.187	B;P;B;B;B	0.46685	0.281;0.524;0.388;0.052;0.152	T	0.10314	-1.0635	10	0.02654	T	1	-17.7277	10.5233	0.44931	0.1703:0.0:0.8297:0.0	.	293;283;289;289;516	E7ENG2;O75122;B3KR06;O75122-2;F5H604	.;CLAP2_HUMAN;.;.;.	K	517;516;516;5;268;283;283;289;289;293	ENSP00000419974:N517K;ENSP00000382297:N516K;ENSP00000352581:N516K;ENSP00000439039:N268K;ENSP00000417518:N283K;ENSP00000419305:N283K;ENSP00000324364:N289K;ENSP00000418939:N289K;ENSP00000327760:N293K	ENSP00000304743:N5K	N	-	3	2	CLASP2	33623233	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.201000	0.32259	1.255000	0.44051	0.655000	0.94253	AAC	CLASP2	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000163539		0.353	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4		0	20	0	G	NM_001207044		33648229	-1			no_errors	ENST00000399362	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	33648229	G	T	33648229	3	4	14	1	0	0	0	0	1	0	0	0	3462	1252	44	3	3064	3	CLASP2	3	33648229	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	19484800	33648229	164374201	59	4291											
MLH1	4292	genome.wustl.edu	37	chr3	37061853	37061853	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcaccccacaaagcatGaagttcacttcctgcacgag	12	8	8	13	1	1	1	1	1	0	0	2	2	2	1	3	0	3	4	3	0	2	2	rs63751259		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:37061853G>T	ENST00000231790.2	+	11	1153	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	MLH1_ENST00000539477.1_Nonsense_Mutation_p.E72*|MLH1_ENST00000458205.2_Nonsense_Mutation_p.E72*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.E215*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.E72*|MLH1_ENST00000536378.1_Nonsense_Mutation_p.E72*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	313					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.E313*(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CACAAAGCATGAAGTTCACTT	0.502		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	3	3p21.3	4292	E.coli MutL homolog gene		"E, O"	2	Substitution - Nonsense(1)|Whole gene deletion(1)	ovary(1)|lung(1)											106	103	104					3																	37061853		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)", "mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.937G>T	3.37:g.37061853G>T	ENSP00000231790:p.Glu313*		B4DI13|B4DQ11|E9PCU2	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	p.E313*	ENST00000231790.2	37	c.937	CCDS2663.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.480871|9.480871	0.99183|0.99183	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000383761;ENST00000458205;ENST00000539477;ENST00000455445;ENST00000435176;ENST00000441265;ENST00000536378|ENST00000456676	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80048	.|0.4552	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77797	.|-0.2453	.|3	0.87932|.	D|.	0|.	-20.3185|-20.3185	19.9664|19.9664	0.97271|0.97271	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	313;279;177;72;72;72;215;72;72|304	.|.	ENSP00000231790:E313X|.	E|M	+|+	1|3	0|0	MLH1|MLH1	37036857|37036857	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.996000|0.996000	0.88848|0.88848	9.387000|9.387000	0.97232|0.97232	2.718000|2.718000	0.92993|0.92993	0.655000|0.655000	0.94253|0.94253	GAA|ATG	MLH1	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	ENSG00000076242		0.502	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2		0	46	0	G	NM_000249		37061853	1			no_errors	ENST00000231790	ensembl	human	known	74_37	nonsense	5.36	53	3	SNP	1.000	T	T	37061853	G	T	37061853	4	4	14	1	0	0	0	0	0	1	0	0	9655	1291	45	3	979	3	MLH1	3	37061853	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	3413624	37061853	160960577	60	4292											
SEC22C	9117	genome.wustl.edu	37	chr3	42610376	42610376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatactaaagtcacaacCttctgcagaacctcgacctg	12	10	6	13	1	2	1	1	0	1	1	3	2	2	1	3	0	4	2	3	0	6	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:42610376C>A	ENST00000264454.3	-	2	306	c.163G>T	c.(163-165)Ggt>Tgt	p.G55C	SEC22C_ENST00000417572.1_Missense_Mutation_p.G55C|SEC22C_ENST00000423701.2_Missense_Mutation_p.G55C|SEC22C_ENST00000536332.1_De_novo_Start_InFrame|SEC22C_ENST00000273156.7_Missense_Mutation_p.G55C|SEC22C_ENST00000493107.1_5'UTR			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	55	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AAGTCACAACCTTCTGCAGAA	0.383																																																	0													57	63	61					3																	42610376		2203	4300	6503	SO:0001583	missense	0			AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.163G>T	3.37:g.42610376C>A	ENSP00000264454:p.Gly55Cys		O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP	superfamily_Longin-like_dom,pfscan_Longin_dom	p.G55C	ENST00000264454.3	37	c.163	CCDS2700.1	3	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863686	0.71949	.	.	ENSG00000093183	ENST00000423701;ENST00000273156;ENST00000417572;ENST00000264454;ENST00000456515;ENST00000450981;ENST00000416880;ENST00000420163	T;T;T;T;T;T;T;T	0.21734	2.01;2.01;2.01;2.01;2.01;2.01;2.01;1.99	5.42	4.47	0.54385	Longin (2);Longin-like (1);	0.113273	0.64402	D	0.000010	T	0.32585	0.0834	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.998;0.98;0.999	D;P;D	0.65443	0.912;0.88;0.935	T	0.02519	-1.1147	10	0.42905	T	0.14	-1.9616	8.8714	0.35318	0.0:0.8734:0.0:0.1266	.	55;55;55	Q9BRL7-3;Q9BRL7;Q9BRL7-2	.;SC22C_HUMAN;.	C	55	ENSP00000414576:G55C;ENSP00000273156:G55C;ENSP00000407564:G55C;ENSP00000264454:G55C;ENSP00000391170:G55C;ENSP00000397170:G55C;ENSP00000391957:G55C;ENSP00000408242:G55C	ENSP00000264454:G55C	G	-	1	0	SEC22C	42585380	1.000000	0.71417	0.510000	0.27712	0.910000	0.53928	5.359000	0.66074	1.077000	0.40990	0.655000	0.94253	GGT	SEC22C	-	superfamily_Longin-like_dom,pfscan_Longin_dom	ENSG00000093183		0.383	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC22C	HGNC	protein_coding	OTTHUMT00000254734.1	-	0	42	0	C	NM_004206		42610376	-1	tier1	-	no_errors	ENST00000264454	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	42610376	C	A	42610376	3	1	14	1	0	0	0	0	1	0	0	0	14035	681	24	3	818	3	SEC22C	3	42610376	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	5548523	42610376	155412054	61	4293											
SLC6A20	54716	genome.wustl.edu	37	chr3	45814027	45814027	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtacatgaggccattGgtggctccgtggagcgtgag	9	9	15	8	2	0	2	0	2	0	0	1	3	1	3	2	4	3	2	2	4	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:45814027G>T	ENST00000358525.4	-	5	778	c.663C>A	c.(661-663)acC>acA	p.T221T	SLC6A20_ENST00000456124.2_Silent_p.T221T|SLC6A20_ENST00000353278.4_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	221					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGAGGCCATTGGTGGCTCCGT	0.602																																																	0													81	89	86					3																	45814027		2062	4201	6263	SO:0001819	synonymous_variant	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.663C>A	3.37:g.45814027G>T			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T221	ENST00000358525.4	37	c.663	CCDS43077.1	3																																																																																			SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000163817		0.602	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	-	0	31	0	G	NM_020208		45814027	-1	tier1	-	no_errors	ENST00000358525	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.991	T	T	45814027	G	T	45814027	2	4	14	1	0	0	0	0	0	0	0	1	14729	1335	47	3		3	SLC6A20	3	45814027	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	3203651	45814027	152208403	62	4294											
SETD2	29072	genome.wustl.edu	37	chr3	47155365	47155365	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaattaaaaaagaacttaCgaaggaaggtctttggcagc	16	9	11	5	1	1	1	0	0	1	1	1	3	1	2	0	4	3	2	0	4	8	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:47155365C>G	ENST00000409792.3	-	5	4758		c.e5+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAAGAACTTACGAAGGAAGGT	0.453			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													106	107	106					3																	47155365		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4715+1G>C	3.37:g.47155365C>G			O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	-	e5+1	ENST00000409792.3	37	c.4715+1	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254094	0.80135	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8075	0.88606	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47130369	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.256000	0.78350	2.518000	0.84900	0.585000	0.79938	.	SETD2	-	-	ENSG00000181555		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2		0	13	0	C	NM_014159	Intron	47155365	-1			no_errors	ENST00000409792	ensembl	human	known	74_37	splice_site	36.36	14	8	SNP	1.000	G	G	47155365	C	G	47155365	5	3	14	1	0	0	0	0	0	0	1	0	14176	550	19	5	3046	5	SETD2	3	47155365	Splice_Site	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1341338	47155365	150867065	63	4295											
PTPN23	25930	genome.wustl.edu	37	chr3	47454574	47454574	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagcggatgagcaagcatAactttctgcaggcccataac	14	7	9	11	1	1	1	0	1	1	0	1	2	1	2	1	2	7	3	1	2	4	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:47454574A>C	ENST00000265562.4	+	25	4887	c.4810A>C	c.(4810-4812)Aac>Cac	p.N1604H	PTPN23_ENST00000431726.1_Missense_Mutation_p.N1478H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1604					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGCAAGCATAACTTTCTGCA	0.642																																																	0													35	38	37					3																	47454574		2203	4297	6500	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4810A>C	3.37:g.47454574A>C	ENSP00000265562:p.Asn1604His		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N1604H	ENST00000265562.4	37	c.4810	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	A	11.96	1.795471	0.31777	.	.	ENSG00000076201	ENST00000265562	T	0.02787	4.16	4.35	3.18	0.36537	.	0.222024	0.36409	N	0.002618	T	0.02649	0.0080	N	0.24115	0.695	0.38541	D	0.949215	B	0.32693	0.38	B	0.34873	0.191	T	0.54906	-0.8223	10	0.72032	D	0.01	-16.8132	8.8937	0.35451	0.9084:0.0:0.0916:0.0	.	1604	Q9H3S7	PTN23_HUMAN	H	1604	ENSP00000265562:N1604H	ENSP00000265562:N1604H	N	+	1	0	PTPN23	47429578	1.000000	0.71417	0.987000	0.45799	0.367000	0.29736	6.554000	0.73923	0.694000	0.31654	0.460000	0.39030	AAC	PTPN23	-	NULL	ENSG00000076201		0.642	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	-	0	45	0	A	NM_015466		47454574	1	tier1	-	no_errors	ENST00000265562	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	C	C	47454574	A	C	47454574	3	2	14	1	0	0	0	0	1	0	0	0	12833	362	13	4	4908	4	PTPN23	3	47454574	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	299209	47454574	150567856	64	4296											
RFT1	91869	genome.wustl.edu	37	chr3	53145865	53145865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgtcaaaatctgtttCaagaaagactgtttgaaaaa	15	13	6	7	0	4	3	2	1	2	2	4	3	4	3	1	0	0	2	1	0	6	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:53145865C>A	ENST00000296292.3	-	7	817	c.756G>T	c.(754-756)ttG>ttT	p.L252F	RFT1_ENST00000394738.3_Missense_Mutation_p.L213F	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	252					carbohydrate transport (GO:0008643)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)	lipid transporter activity (GO:0005319)			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		AAATCTGTTTCAAGAAAGACT	0.408																																																	0													95	96	96					3																	53145865		2203	4300	6503	SO:0001583	missense	0			AJ318099	CCDS2869.1	3p21.1	2014-02-06	2005-01-26		ENSG00000163933	ENSG00000163933			30220	protein-coding gene	gene with protein product	"congenital disorder of glycosylation 1N"	611908	"RFT1, requiring fifty three 1 homolog (S. cerevisiae)"			12477932	Standard	NM_052859		Approved	CDG1N	uc003dgj.3	Q96AA3	OTTHUMG00000074035	ENST00000296292.3:c.756G>T	3.37:g.53145865C>A	ENSP00000296292:p.Leu252Phe		Q96J03	Missense_Mutation	SNP	pfam_RFT1	p.L252F	ENST00000296292.3	37	c.756	CCDS2869.1	3	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205218	0.58234	.	.	ENSG00000163933	ENST00000296292;ENST00000394738;ENST00000467048	D;D;D	0.90444	-2.67;-2.67;-2.67	5.66	2.92	0.33932	.	0.000000	0.64402	D	0.000001	D	0.89417	0.6709	M	0.67953	2.075	0.80722	D	1	P;P	0.48162	0.906;0.906	P;P	0.48982	0.575;0.597	D	0.84084	0.0386	10	0.17832	T	0.49	.	8.3546	0.32323	0.0:0.6919:0.0:0.3081	.	213;252	B5MDE0;Q96AA3	.;RFT1_HUMAN	F	252;213;206	ENSP00000296292:L252F;ENSP00000378223:L213F;ENSP00000420325:L206F	ENSP00000296292:L252F	L	-	3	2	RFT1	53120905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.464000	0.35288	0.345000	0.23873	0.563000	0.77884	TTG	RFT1	-	pfam_RFT1	ENSG00000163933		0.408	RFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFT1	HGNC	protein_coding	OTTHUMT00000157136.2		0	40	0	C	NM_052859		53145865	-1			no_errors	ENST00000296292	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	53145865	C	A	53145865	3	1	14	1	0	0	0	0	1	0	0	0	13302	825	29	3	897	3	RFT1	3	53145865	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	5691291	53145865	144876565	65	4297											
CACNA1D	776	genome.wustl.edu	37	chr3	53808636	53808636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggaaagttgccatgaGagataacaaccagatcaata	16	9	10	6	0	1	3	1	1	0	2	1	5	1	4	2	1	3	2	2	1	5	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:53808636G>T	ENST00000350061.5	+	34	4644	c.4133G>T	c.(4132-4134)aGa>aTa	p.R1378I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1363I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1398I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R270I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1378					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R1398K(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGCCATGAGAGATAACAAC	0.448																																																	1	Substitution - Missense(1)	cervix(1)											116	117	117					3																	53808636		2203	4300	6503	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4133G>T	3.37:g.53808636G>T	ENSP00000288133:p.Arg1378Ile		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.R1398I	ENST00000350061.5	37	c.4193	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222969	0.39300	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99	6.06	3.3	0.37823	Ion transport (1);	0.189943	0.46442	D	0.000285	D	0.95677	0.8594	L	0.38649	1.16	0.80722	D	1	B;B;B;B;B	0.26120	0.142;0.0;0.06;0.06;0.117	B;B;B;B;B	0.32090	0.14;0.003;0.038;0.038;0.086	D	0.93994	0.7269	10	0.40728	T	0.16	.	10.9318	0.47222	0.2376:0.0:0.7624:0.0	.	1363;270;1071;1378;1398	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	I	1378;1398;1363;1071;270	ENSP00000288133:R1378I;ENSP00000288139:R1398I;ENSP00000409174:R1363I;ENSP00000418014:R1071I;ENSP00000438229:R270I	ENSP00000288139:R1398I	R	+	2	0	CACNA1D	53783676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.575000	0.36493	1.582000	0.49881	-0.137000	0.14449	AGA	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1		0	43	0	G	NM_000720		53808636	1			no_errors	ENST00000288139	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	53808636	G	T	53808636	3	4	14	1	0	0	0	0	1	0	0	0	2548	942	33	3	4439	3	CACNA1D	3	53808636	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	662771	53808636	144213794	66	4298											
ERC2	26059	genome.wustl.edu	37	chr3	56183042	56183042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgacttttgtaaaccTcaatttgtttgatctcttct	8	19	7	7	0	3	2	1	2	2	0	4	3	3	3	1	1	1	2	1	1	3	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:56183042T>C	ENST00000288221.6	-	5	1523	c.1268A>G	c.(1267-1269)gAg>gGg	p.E423G		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	423						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTTGTAAACCTCAATTTGTTT	0.388																																																	0													184	179	180					3																	56183042		1875	4102	5977	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1268A>G	3.37:g.56183042T>C	ENSP00000288221:p.Glu423Gly		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.E423G	ENST00000288221.6	37	c.1268	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.453587|4.453587	0.84209|0.84209	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000288221|ENST00000492584	T|.	0.58652|.	0.32|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.046806|.	0.85682|.	D|.	0.000000|.	T|T	0.76758|0.76758	0.4032|0.4032	M|M	0.77616|0.77616	2.38|2.38	0.52099|0.52099	D|D	0.999946|0.999946	D|.	0.62365|.	0.991|.	D|.	0.74023|.	0.982|.	T|T	0.77222|0.77222	-0.2667|-0.2667	10|5	0.62326|.	D|.	0.03|.	-20.6707|-20.6707	16.542|16.542	0.84395|0.84395	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	423|.	O15083|.	ERC2_HUMAN|.	G|G	423|62	ENSP00000288221:E423G|.	ENSP00000288221:E423G|.	E|R	-|-	2|1	0|2	ERC2|ERC2	56158082|56158082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.040000|8.040000	0.89188|0.89188	2.304000|2.304000	0.77564|0.77564	0.528000|0.528000	0.53228|0.53228	GAG|AGG	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.388	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0	42	0	T	NM_015576		56183042	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	C	C	56183042	T	C	56183042	3	2	14	1	0	0	0	0	1	0	0	0	5227	1551	54	4	1647	4	ERC2	3	56183042	Missense_Mutation	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	2374406	56183042	141839388	67	4299											
MYH15	22989	genome.wustl.edu	37	chr3	108214704	108214704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattcgcttgcatgatttGatcttctaacgccccctgag	8	14	8	11	2	2	3	0	3	2	0	3	3	2	3	2	0	2	3	2	0	2	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:108214704G>T	ENST00000273353.3	-	8	750	c.694C>A	c.(694-696)Caa>Aaa	p.Q232K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	232	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TGCATGATTTGATCTTCTAAC	0.408																																																	0													107	93	98					3																	108214704		1860	4105	5965	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.694C>A	3.37:g.108214704G>T	ENSP00000273353:p.Gln232Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.Q232K	ENST00000273353.3	37	c.694	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880527	0.51801	.	.	ENSG00000144821	ENST00000273353	D	0.86865	-2.18	4.93	4.05	0.47172	Myosin head, motor domain (2);	.	.	.	.	D	0.92570	0.7640	M	0.80746	2.51	0.48571	D	0.999677	P	0.41929	0.765	P	0.56916	0.809	D	0.93461	0.6810	9	0.87932	D	0	.	15.4461	0.75232	0.0:0.1393:0.8607:0.0	.	232	Q9Y2K3	MYH15_HUMAN	K	232	ENSP00000273353:Q232K	ENSP00000273353:Q232K	Q	-	1	0	MYH15	109697394	1.000000	0.71417	0.046000	0.18839	0.038000	0.13279	3.583000	0.53928	1.188000	0.43014	0.655000	0.94253	CAA	MYH15	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000144821		0.408	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1		0	45	0	G	XM_036988		108214704	-1			no_errors	ENST00000273353	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	108214704	G	T	108214704	3	4	14	1	0	0	0	0	1	0	0	0	10072	1299	45	3	5286	3	MYH15	3	108214704	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	52031662	108214704	89807726	68	4300											
POLQ	10721	genome.wustl.edu	37	chr3	121208707	121208707	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaattcaaaggtgcctttTttgttttctgtgaaaaagtc	11	17	8	5	0	2	2	1	2	1	0	3	2	2	2	1	1	1	1	1	1	4	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:121208707T>G	ENST00000264233.5	-	16	3199	c.3071A>C	c.(3070-3072)aAa>aCa	p.K1024T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1024					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGGTGCCTTTTTTGTTTTCTG	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													72	81	78					3																	121208707		2202	4300	6502	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3071A>C	3.37:g.121208707T>G	ENSP00000264233:p.Lys1024Thr		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.K1024T	ENST00000264233.5	37	c.3071	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392554	0.25118	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.55760	0.5	5.11	1.46	0.22682	.	0.851711	0.10795	N	0.633293	T	0.48519	0.1504	L	0.29908	0.895	0.18873	N	0.999986	B;D	0.61080	0.085;0.989	B;P	0.55923	0.023;0.787	T	0.30446	-0.9978	10	0.34782	T	0.22	.	4.8078	0.13328	0.0:0.1622:0.3063:0.5315	.	1024;196	O75417;O75417-2	DPOLQ_HUMAN;.	T	647;1024;1160	ENSP00000264233:K1024T	ENSP00000264233:K1024T	K	-	2	0	POLQ	122691397	1.000000	0.71417	0.969000	0.41365	0.005000	0.04900	2.031000	0.41117	0.104000	0.17725	-0.460000	0.05396	AAA	POLQ	-	NULL	ENSG00000051341		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1		0	27	0	T	NM_199420		121208707	-1			no_errors	ENST00000264233	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.615	G	G	121208707	T	G	121208707	3	3	14	1	0	0	0	0	1	0	0	0	12247	1841	64	4	4761	4	POLQ	3	121208707	Missense_Mutation	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	12994003	121208707	76813723	69	4301											
ARGFX	503582	genome.wustl.edu	37	chr3	121305141	121305141	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcagtgggagaggctggtGgcctcggttcctgctttgta	5	12	15	9	1	1	1	1	0	0	1	3	2	2	1	2	5	1	4	2	5	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:121305141G>T	ENST00000334384.3	+	4	652	c.642G>T	c.(640-642)gtG>gtT	p.V214V		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		AGAGGCTGGTGGCCTCGGTTC	0.463																																																	0													125	126	126					3																	121305141		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"Homeoboxes / PRD class"	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.642G>T	3.37:g.121305141G>T				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.V214	ENST00000334384.3	37	c.642	CCDS33834.1	3																																																																																			ARGFX	-	NULL	ENSG00000186103		0.463	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	HGNC	protein_coding	OTTHUMT00000355096.2	-	0	63	0	G	NM_001012659		121305141	1	tier1	-	no_errors	ENST00000334384	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.164	T	T	121305141	G	T	121305141	2	4	14	1	0	0	0	0	0	0	0	1	859	1335	47	3		3	ARGFX	3	121305141	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	96434	121305141	76717289	70	4302											
ACAD9	28976	genome.wustl.edu	37	chr3	128614245	128614245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaccctggcagcgcaccagGctattggcctcaaggtcagg	8	7	13	13	1	2	1	2	1	0	0	2	1	2	1	3	5	1	3	3	5	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:128614245G>T	ENST00000308982.7	+	4	520	c.439G>T	c.(439-441)Gct>Tct	p.A147S		NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	147						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGCGCACCAGGCTATTGGCCT	0.562																																																	0													113	92	99					3																	128614245		2203	4300	6503	SO:0001583	missense	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"Mitochondrial respiratory chain complex assembly factors"	21497	protein-coding gene	gene with protein product		611103	"acyl-Coenzyme A dehydrogenase family, member 9"			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.439G>T	3.37:g.128614245G>T	ENSP00000312618:p.Ala147Ser		D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A147S	ENST00000308982.7	37	c.439	CCDS3053.1	3	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599344	0.13939	.	.	ENSG00000177646	ENST00000308982;ENST00000514336;ENST00000334167	D;D	0.99683	-6.39;-6.39	5.46	3.63	0.41609	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.050353	0.85682	N	0.000000	D	0.95465	0.8527	N	0.00408	-1.53	0.58432	D	0.999997	B;B	0.19817	0.002;0.039	B;B	0.23275	0.006;0.045	D	0.93719	0.7031	10	0.02654	T	1	.	13.0109	0.58731	0.0:0.0:0.7071:0.2929	.	24;147	Q9H9W4;Q9H845	.;ACAD9_HUMAN	S	147;159;14	ENSP00000312618:A147S;ENSP00000423758:A159S	ENSP00000312618:A147S	A	+	1	0	ACAD9	130096935	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	3.167000	0.50793	0.762000	0.33152	0.655000	0.94253	GCT	ACAD9	-	pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000177646		0.562	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1		0	32	0	G	NM_014049		128614245	1			no_errors	ENST00000308982	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	128614245	G	T	128614245	3	4	14	1	0	0	0	0	1	0	0	0	111	1203	42	3	453	3	ACAD9	3	128614245	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7309104	128614245	69408185	71	4303											
COL6A5	256076	genome.wustl.edu	37	chr3	130107894	130107894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagagatcagtggggataGcagcctagtttttcatgttg	11	12	13	5	0	2	2	2	0	0	2	2	4	2	3	1	2	2	3	1	2	3	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:130107894G>A	ENST00000432398.2	+	6	2827	c.2333G>A	c.(2332-2334)aGc>aAc	p.S778N	COL6A5_ENST00000265379.6_Missense_Mutation_p.S778N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	778	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGTGGGGATAGCAGCCTAGTT	0.428																																																	0													192	162	171					3																	130107894		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2333G>A	3.37:g.130107894G>A	ENSP00000390895:p.Ser778Asn		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S778N	ENST00000432398.2	37	c.2333		3	.	.	.	.	.	.	.	.	.	.	G	2.042	-0.419919	0.04734	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.77877	-1.13;-1.13	5.48	2.62	0.31277	.	.	.	.	.	T	0.61148	0.2324	N	0.17594	0.5	0.09310	N	1	B	0.12013	0.005	B	0.22152	0.038	T	0.53187	-0.8474	9	0.56958	D	0.05	.	5.3238	0.15895	0.27:0.2226:0.5074:0.0	.	778	A8TX70-2	.	N	778	ENSP00000390895:S778N;ENSP00000265379:S778N	ENSP00000265379:S778N	S	+	2	0	COL6A5	131590584	0.000000	0.05858	0.014000	0.15608	0.167000	0.22549	0.209000	0.17435	0.674000	0.31244	0.650000	0.86243	AGC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0	17	0	G	NM_153264		130107894	1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.000	A	A	130107894	G	A	130107894	3	1	14	1	0	0	0	0	1	0	0	0	3709	971	34	3	2351	3	COL6A5	3	130107894	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1493649	130107894	67914536	72	4304											
ABCF3	55324	genome.wustl.edu	37	chr3	183907232	183907232	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctggagaattacctgcagGtgagtgcctgtgggtgctgg	6	10	18	7	0	0	2	0	1	0	1	0	3	0	2	2	5	4	3	2	5	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:183907232G>A	ENST00000429586.2	+	12	1298		c.e12+1		ABCF3_ENST00000292808.5_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3						defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTACCTGCAGGTGAGTGCCTG	0.592																																																	0													78	74	76					3																	183907232		2203	4300	6503	SO:0001630	splice_region_variant	0			U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"ATP binding cassette transporters / subfamily F"	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1113+1G>A	3.37:g.183907232G>A			A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Splice_Site	SNP	-	e12+1	ENST00000429586.2	37	c.1113+1	CCDS3254.1	3	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483918	0.63962	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7803	0.85562	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCF3	185389926	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.926000	0.92839	2.205000	0.71048	0.467000	0.42956	.	ABCF3	-	-	ENSG00000161204		0.592	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF3	HGNC	protein_coding	OTTHUMT00000346047.1	-	0	26	0	G	NM_018358	Intron	183907232	1	tier1	-	no_errors	ENST00000429586	ensembl	human	known	74_37	splice_site	17.91	55	12	SNP	1.000	A	A	183907232	G	A	183907232	5	1	14	1	0	0	0	0	0	0	1	0	67	1275	44	3	1160	3	ABCF3	3	183907232	Splice_Site	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	53799338	183907232	14115198	73	4305											
FGF12	2257	genome.wustl.edu	37	chr3	192125875	192125875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcactttgctgaacaccccGaggacgtgcctctcgcacag	8	7	10	16	4	1	1	0	1	1	0	2	3	1	2	3	1	3	3	3	1	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:192125875G>A	ENST00000454309.2	-	1	963	c.138C>T	c.(136-138)ctC>ctT	p.L46L	FGF12_ENST00000445105.2_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000264730.3_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	46					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)	p.L46L(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGAACACCCCGAGGACGTGCC	0.687																																																	1	Substitution - coding silent(1)	lung(1)											74	85	82					3																	192125875		2198	4277	6475	SO:0001819	synonymous_variant	0			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"fibroblast growth factor 12B", "fibroblast growth factor homologous factor 1", "myocyte-activating factor", "fibroblast growth factor FGF-12b"	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.138C>T	3.37:g.192125875G>A			B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.L46	ENST00000454309.2	37	c.138	CCDS3301.1	3																																																																																			FGF12	-	NULL	ENSG00000114279		0.687	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF12	HGNC	protein_coding	OTTHUMT00000343160.1	-	0	57	0	G	NM_021032		192125875	-1	tier1	-	no_errors	ENST00000454309	ensembl	human	known	74_37	silent	18.10	86	19	SNP	1.000	A	A	192125875	G	A	192125875	2	1	14	1	0	0	0	0	0	0	0	1	5863	1045	37	1		1	FGF12	3	192125875	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	8218643	192125875	5896555	74	4306											
TFRC	7037	genome.wustl.edu	37	chr3	195791279	195791279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccatgcatctctctgggCcccaactacaacatagtgat	10	9	7	15	0	2	1	0	1	2	0	3	1	2	1	4	1	4	1	4	1	4	2	rs184956956	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr3:195791279C>A	ENST00000360110.4	-	11	1388	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000465288.1_5'Flank|TFRC_ENST00000392396.3_Missense_Mutation_p.A407S|TFRC_ENST00000535031.1_Missense_Mutation_p.A125S|TFRC_ENST00000420415.1_Missense_Mutation_p.A326S	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	407					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TCTCTCTGGGCCCCAACTACA	0.403			T	BCL6	NHL																																			Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0													57	57	57					3																	195791279		2203	4300	6503	SO:0001583	missense	0			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.1219G>T	3.37:g.195791279C>A	ENSP00000353224:p.Ala407Ser		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.A407S	ENST00000360110.4	37	c.1219	CCDS3312.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062409	0.76187	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.74106	0.6;0.6;0.6;-0.81	5.37	5.37	0.77165	Peptidase M28 (1);	0.046170	0.85682	D	0.000000	D	0.84279	0.5437	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82430	-0.0461	10	0.33940	T	0.23	-15.087	17.6652	0.88201	0.0:1.0:0.0:0.0	.	407	P02786	TFR1_HUMAN	S	407;326;407;125	ENSP00000353224:A407S;ENSP00000390133:A326S;ENSP00000376197:A407S;ENSP00000437753:A125S	ENSP00000353224:A407S	A	-	1	0	TFRC	197275676	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.760000	0.74939	2.506000	0.84524	0.561000	0.74099	GCC	TFRC	-	pfam_Peptidase_M28	ENSG00000072274		0.403	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	HGNC	protein_coding	OTTHUMT00000341346.1	-	0	43	0	C			195791279	-1	tier1	-	no_errors	ENST00000360110	ensembl	human	known	74_37	missense	11.11	56	7	SNP	1.000	A	A	195791279	C	A	195791279	3	1	14	1	0	0	0	0	1	0	0	0	15859	739	26	3	1099	3	TFRC	3	195791279	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3665404	195791279	2231151	75	4307											
NOP14	8602	genome.wustl.edu	37	chr4	2956259	2956259	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgaaggagcccaccGcctcctccaaagtgggcagc	8	8	11	14	1	1	1	0	1	1	0	3	2	3	2	5	2	2	1	5	2	2	2	rs375727243		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr4:2956259G>T	ENST00000314262.6	-	4	552	c.504C>A	c.(502-504)ggC>ggA	p.G168G	NOP14_ENST00000502735.1_Silent_p.G168G|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Silent_p.G168G|NOP14_ENST00000398071.4_Silent_p.G168G	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	168					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GGAGCCCACCGCCTCCTCCAA	0.567																																																	0													69	67	67					4																	2956259		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.504C>A	4.37:g.2956259G>T			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	pfam_Nop14	p.G168	ENST00000314262.6	37	c.504	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.567	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2		0	32	0	G	NM_003703		2956259	-1			no_errors	ENST00000416614	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.002	T	T	2956259	G	T	2956259	2	4	14	1	0	0	0	0	0	0	0	1	10575	1074	38	2		2	NOP14	4	2956259	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		2956259	188198017	76	4308											
KCTD8	386617	genome.wustl.edu	37	chr4	44449989	44449989	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcccgagggcacggcGgccgccgccccgcgcagcag	4	0	17	20	8	0	0	0	0	0	0	0	1	0	0	6	4	1	3	6	4	0	0	rs563973247		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr4:44449989G>T	ENST00000360029.3	-	1	835	c.552C>A	c.(550-552)gcC>gcA	p.A184A	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	184					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						agggcacggcggccgccgccc	0.736										HNSCC(17;0.042)																																							0													2	2	2					4																	44449989		1537	3033	4570	SO:0001819	synonymous_variant	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.552C>A	4.37:g.44449989G>T			A2RU39	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.A184	ENST00000360029.3	37	c.552	CCDS3467.1	4																																																																																			KCTD8	-	NULL	ENSG00000183783		0.736	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1		0	13	0	G			44449989	-1			no_errors	ENST00000360029	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.245	T	T	44449989	G	T	44449989	2	4	14	1	0	0	0	0	0	0	0	1	8142	1103	39	2		2	KCTD8	4	44449989	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	41493730	44449989	146704287	77	4309											
KIT	3815	genome.wustl.edu	37	chr4	55564477	55564477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcttttccttgttgaccGctccttgtatgggaaagaag	9	13	10	9	1	0	2	0	1	0	1	2	3	2	3	3	1	1	4	3	1	4	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr4:55564477G>A	ENST00000288135.5	+	3	462	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	122	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTTGACCGCTCCTTGTAT	0.473		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													40	36	38					4																	55564477		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.365G>A	4.37:g.55564477G>A	ENSP00000288135:p.Arg122His		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R122H	ENST00000288135.5	37	c.365	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156258	0.38021	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.76709	-1.04;-1.04	5.56	-3.9	0.04181	Immunoglobulin-like fold (1);	1.290390	0.05271	N	0.517508	T	0.53012	0.1770	N	0.22421	0.69	0.09310	N	1	B;P	0.35807	0.319;0.522	B;B	0.27076	0.024;0.076	T	0.44081	-0.9351	10	0.15499	T	0.54	.	2.695	0.05132	0.146:0.2555:0.442:0.1565	.	122;122	P10721-2;P10721	.;KIT_HUMAN	H	122	ENSP00000288135:R122H;ENSP00000390987:R122H	ENSP00000288135:R122H	R	+	2	0	KIT	55259234	0.000000	0.05858	0.000000	0.03702	0.619000	0.37552	-0.407000	0.07178	-0.156000	0.11079	0.561000	0.74099	CGC	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000157404		0.473	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1		0	39	0	G			55564477	1			no_errors	ENST00000288135	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	A	A	55564477	G	A	55564477	3	1	14	1	0	0	0	0	1	0	0	0	8356	1087	38	1	375	1	KIT	4	55564477	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	11114488	55564477	135589799	78	4310											
ADAD1	132612	genome.wustl.edu	37	chr4	123333900	123333900	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccagatgggaagtgctTggtgtacagggagcattgct	9	11	15	6	0	0	2	0	1	0	1	0	4	0	4	1	3	4	4	1	3	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr4:123333900T>C	ENST00000296513.2	+	10	1370	c.1185T>C	c.(1183-1185)ctT>ctC	p.L395L	ADAD1_ENST00000388724.2_Silent_p.L384L|ADAD1_ENST00000388725.2_Silent_p.L377L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	395	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGGAAGTGCTTGGTGTACAGG	0.413																																																	0													240	227	231					4																	123333900		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1185T>C	4.37:g.123333900T>C			A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L395	ENST00000296513.2	37	c.1185	CCDS34058.1	4																																																																																			ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.413	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0	35	0	T	NM_139243		123333900	1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.998	C	C	123333900	T	C	123333900	2	2	14	1	0	0	0	0	0	0	0	1	231	1799	63	4		4	ADAD1	4	123333900	Silent	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	67769423	123333900	67820376	79	4311											
USP38	84640	genome.wustl.edu	37	chr4	144107006	144107006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtagaggtgttacggatgGtgtgtgagaggccggagccg	8	8	20	5	3	0	2	0	1	0	2	0	5	0	4	2	6	2	2	2	6	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr4:144107006G>A	ENST00000307017.4	+	1	909	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	RP11-284M14.1_ENST00000507826.1_RNA|USP38_ENST00000510377.1_Missense_Mutation_p.V135M|RP11-284M14.1_ENST00000507486.1_RNA	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	135					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GTTACGGATGGTGTGTGAGAG	0.557																																																	0													111	100	104					4																	144107006		2203	4300	6503	SO:0001583	missense	0			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.403G>A	4.37:g.144107006G>A	ENSP00000303434:p.Val135Met		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.V135M	ENST00000307017.4	37	c.403	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925717	0.73213	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.68331	-0.25;-0.32	4.91	4.07	0.47477	.	0.071575	0.56097	D	0.000038	T	0.67069	0.2854	L	0.34521	1.04	0.54753	D	0.999981	P;D	0.55172	0.822;0.97	P;P	0.52710	0.599;0.707	T	0.72104	-0.4391	10	0.87932	D	0	-10.0239	15.4223	0.75022	0.0:0.1393:0.8607:0.0	.	135;135	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	M	135	ENSP00000427647:V135M;ENSP00000303434:V135M	ENSP00000303434:V135M	V	+	1	0	USP38	144326456	1.000000	0.71417	0.992000	0.48379	0.870000	0.49936	5.532000	0.67154	1.292000	0.44672	0.561000	0.74099	GTG	USP38	-	NULL	ENSG00000170185		0.557	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1		0	18	0	G	NM_032557		144107006	1			no_errors	ENST00000307017	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	144107006	G	A	144107006	3	1	14	1	0	0	0	0	1	0	0	0	17118	1261	44	3	405	3	USP38	4	144107006	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	20773106	144107006	47047270	80	4312											
SLC9A3	6550	genome.wustl.edu	37	chr5	488464	488464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgttcagcagcgactccccGaagacgatgatgaacaggac	12	6	11	12	4	1	3	1	2	0	1	3	7	2	4	2	1	3	2	2	1	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:488464G>A	ENST00000264938.3	-	3	651	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SLC9A3_ENST00000514375.1_Silent_p.F214F	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	214					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCGACTCCCCGAAGACGATGA	0.667																																																	0													72	66	68					5																	488464		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.642C>T	5.37:g.488464G>A			B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F214	ENST00000264938.3	37	c.642	CCDS3855.1	5																																																																																			SLC9A3	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000066230		0.667	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	-	0	50	0	G	NM_004174		488464	-1	tier1	-	no_errors	ENST00000264938	ensembl	human	known	74_37	silent	32.47	52	25	SNP	0.961	A	A	488464	G	A	488464	2	1	14	1	0	0	0	0	0	0	0	1	14758	1049	37	1		1	SLC9A3	5	488464	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		488464	180426796	81	4313											
DNAH5	1767	genome.wustl.edu	37	chr5	13809266	13809266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacggatacaggtattcctGggtacgcgtgttccagtgcg	8	10	14	9	4	0	1	0	0	0	1	2	2	2	2	2	3	3	3	2	3	3	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:13809266G>T	ENST00000265104.4	-	46	7743	c.7639C>A	c.(7639-7641)Cag>Aag	p.Q2547K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2547					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGTATTCCTGGGTACGCGTG	0.448									Kartagener syndrome																																								0													165	154	158					5																	13809266		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7639C>A	5.37:g.13809266G>T	ENSP00000265104:p.Gln2547Lys		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q2547K	ENST00000265104.4	37	c.7639	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	7.157	0.584964	0.13749	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.91	4.12	0.48240	.	0.154134	0.56097	D	0.000027	T	0.18002	0.0432	L	0.29908	0.895	0.28193	N	0.927678	B	0.02656	0.0	B	0.06405	0.002	T	0.06552	-1.0820	10	0.34782	T	0.22	.	17.0343	0.86470	0.0:0.8106:0.1894:0.0	.	2547	Q8TE73	DYH5_HUMAN	K	2547	ENSP00000265104:Q2547K	ENSP00000265104:Q2547K	Q	-	1	0	DNAH5	13862266	1.000000	0.71417	0.650000	0.29550	0.163000	0.22366	4.365000	0.59486	0.825000	0.34637	0.655000	0.94253	CAG	DNAH5	-	NULL	ENSG00000039139		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	53	0	G	NM_001369		13809266	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.998	T	T	13809266	G	T	13809266	3	4	14	1	0	0	0	0	1	0	0	0	4618	1357	47	3	6371	3	DNAH5	5	13809266	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	13320802	13809266	167105994	82	4314											
CDH18	1016	genome.wustl.edu	37	chr5	19747230	19747230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgctctctgtctaggCtttttgttgagtggatatca	5	19	9	8	0	5	1	1	1	4	0	6	2	5	2	0	2	1	3	0	2	2	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:19747230C>A	ENST00000507958.1	-	6	1334	c.344G>T	c.(343-345)aGc>aTc	p.S115I	CDH18_ENST00000382275.1_Missense_Mutation_p.S115I|CDH18_ENST00000511273.1_Missense_Mutation_p.S115I|CDH18_ENST00000502796.1_Missense_Mutation_p.S115I|CDH18_ENST00000274170.4_Missense_Mutation_p.S115I|CDH18_ENST00000506372.1_Missense_Mutation_p.S115I			Q13634	CAD18_HUMAN	cadherin 18, type 2	115	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGTCTAGGCTTTTTGTTGA	0.438																																																	0													237	212	220					5																	19747230		2203	4300	6503	SO:0001583	missense	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.344G>T	5.37:g.19747230C>A	ENSP00000425093:p.Ser115Ile		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S115I	ENST00000507958.1	37	c.344	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046228	0.75846	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.23	5.23	0.72850	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	L	0.45352	1.415	0.50632	D	0.999889	D;D	0.69078	0.993;0.997	D;D	0.68621	0.959;0.943	T	0.57573	-0.7788	9	.	.	.	.	17.3587	0.87344	0.0:1.0:0.0:0.0	.	115;115	B4DHG6;Q13634	.;CAD18_HUMAN	I	115;115;115;115;115;115;61;115	ENSP00000371710:S115I;ENSP00000425093:S115I;ENSP00000274170:S115I;ENSP00000424931:S115I;ENSP00000422138:S115I;ENSP00000427383:S61I;ENSP00000425854:S115I	.	S	-	2	0	CDH18	19782987	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.545000	0.60698	2.441000	0.82636	0.591000	0.81541	AGC	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000145526		0.438	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0	26	0	C	NM_004934		19747230	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	A	A	19747230	C	A	19747230	3	1	14	1	0	0	0	0	1	0	0	0	3110	797	28	3	2068	3	CDH18	5	19747230	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	5937964	19747230	161168030	83	4315											
RICTOR	253260	genome.wustl.edu	37	chr5	38945021	38945021	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgaagactcacctagtaAcaattctgtgcttttggtgc	10	14	8	9	0	3	2	1	1	2	1	3	2	3	2	1	1	3	2	1	1	4	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:38945021A>G	ENST00000357387.3	-	35	4813	c.4783T>C	c.(4783-4785)Tta>Cta	p.L1595L	RICTOR_ENST00000296782.5_Silent_p.L1619L	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TCACCTAGTAACAATTCTGTG	0.373																																																	0													103	102	103					5																	38945021		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.4783T>C	5.37:g.38945021A>G				Silent	SNP	superfamily_ARM-type_fold	p.L1619	ENST00000357387.3	37	c.4855	CCDS34148.1	5																																																																																			RICTOR	-	NULL	ENSG00000164327		0.373	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	-	0	48	0	A	NM_152756		38945021	-1	tier1	-	no_errors	ENST00000296782	ensembl	human	known	74_37	silent	18.75	65	15	SNP	0.748	G	G	38945021	A	G	38945021	2	3	14	1	0	0	0	0	0	0	0	1	13403	40	2	4		4	RICTOR	5	38945021	Silent	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	19197791	38945021	141970239	84	4316											
MEF2C	4208	genome.wustl.edu	37	chr5	88057050	88057050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaatatcttcgttaattttCctgtacttgtcctcagactc	8	18	4	11	1	3	1	2	0	1	1	7	1	5	1	2	0	1	2	2	0	4	7			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:88057050C>T	ENST00000437473.2	-	4	771	c.354G>A	c.(352-354)agG>agA	p.R118R	MEF2C_ENST00000514015.1_Silent_p.R118R|MEF2C_ENST00000508569.1_Silent_p.R118R|MEF2C_ENST00000340208.5_Intron|MEF2C_ENST00000504921.2_Silent_p.R118R|MEF2C_ENST00000510942.1_Silent_p.R118R|MEF2C_ENST00000514028.1_Silent_p.R118R|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Silent_p.R118R	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	118					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CGTTAATTTTCCTGTACTTGT	0.438										HNSCC(66;0.2)																																							0													160	156	157					5																	88057050		1902	4128	6030	SO:0001819	synonymous_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.354G>A	5.37:g.88057050C>T			C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.R118	ENST00000437473.2	37	c.354	CCDS47245.1	5																																																																																			MEF2C	-	pfam_HJURP_C	ENSG00000081189		0.438	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0	17	0	C	NM_002397		88057050	-1	tier1	-	no_errors	ENST00000437473	ensembl	human	known	74_37	silent	34.38	21	11	SNP	1.000	T	T	88057050	C	T	88057050	2	4	14	1	0	0	0	0	0	0	0	1	9495	854	30	3		3	MEF2C	5	88057050	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	49112029	88057050	92858210	85	4317											
GPR98	84059	genome.wustl.edu	37	chr5	90106558	90106558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgaatccaccacatacCtcagcacaagcaagacgact	17	5	5	14	1	1	2	1	1	0	1	2	3	2	2	3	0	4	2	3	0	5	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:90106558C>A	ENST00000405460.2	+	74	15577	c.15481C>A	c.(15481-15483)Ctc>Atc	p.L5161I	GPR98_ENST00000425867.2_Missense_Mutation_p.L822I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5161					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACCACATACCTCAGCACAAG	0.488																																																	0													190	188	189					5																	90106558		2056	4206	6262	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15481C>A	5.37:g.90106558C>A	ENSP00000384582:p.Leu5161Ile		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L5161I	ENST00000405460.2	37	c.15481	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	0.180	-1.063176	0.01950	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.27890	1.71;1.64	5.37	3.59	0.41128	.	0.333086	0.26112	N	0.026271	T	0.19327	0.0464	N	0.22421	0.69	0.09310	N	1	B;B;B	0.25351	0.076;0.016;0.124	B;B;B	0.20384	0.013;0.013;0.029	T	0.16070	-1.0415	9	.	.	.	.	11.4447	0.50116	0.0:0.838:0.0:0.162	.	822;5161;822	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	I	5161;5161;822	ENSP00000384582:L5161I;ENSP00000392618:L822I	.	L	+	1	0	GPR98	90142314	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.672000	0.25187	0.359000	0.24239	-1.119000	0.02030	CTC	GPR98	-	NULL	ENSG00000164199		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	32	0	C	NM_032119		90106558	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.002	A	A	90106558	C	A	90106558	3	1	14	1	0	0	0	0	1	0	0	0	6748	681	24	3	15775	3	GPR98	5	90106558	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	2049508	90106558	90808702	86	4318											
WDR36	134430	genome.wustl.edu	37	chr5	110428207	110428207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctttttgcggggttccGggccttgggacttttcagca	3	13	14	11	4	1	0	1	0	0	0	2	1	2	1	2	4	2	3	2	4	0	6	rs376575241		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:110428207G>T	ENST00000513710.2	+	1	225	c.221G>T	c.(220-222)cGg>cTg	p.R74L	CTC-551A13.2_ENST00000507269.3_RNA|WDR36_ENST00000505303.1_Missense_Mutation_p.R18L|WDR36_ENST00000506538.2_Missense_Mutation_p.R74L			Q8NI36	WDR36_HUMAN	WD repeat domain 36	74					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCGGGGTTCCGGGCCTTGGGA	0.602																																																	0								G	LEU/ARG	1,4403	2.1+/-5.4	0,1,2201	35	40	38		221	6	1	5		38	0,8600		0,0,4300	no	missense	WDR36	NM_139281.2	102	0,1,6501	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	74/952	110428207	1,13003	2202	4300	6502	SO:0001583	missense	0			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.221G>T	5.37:g.110428207G>T	ENSP00000424628:p.Arg74Leu		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R74L	ENST00000513710.2	37	c.221	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.679152	0.96764	2.27E-4	0.0	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303	D;D;T	0.82984	-1.67;-1.67;-0.96	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.92440	0.7600	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.92903	0.6341	10	0.87932	D	0	-13.8234	19.2296	0.93833	0.0:0.0:1.0:0.0	.	74	Q8NI36	WDR36_HUMAN	L	74;74;18	ENSP00000423067:R74L;ENSP00000424628:R74L;ENSP00000422158:R18L	ENSP00000422158:R18L	R	+	2	0	WDR36	110456106	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.255000	0.78338	2.835000	0.97688	0.650000	0.86243	CGG	WDR36	-	NULL	ENSG00000134987		0.602	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3	-	0	29	0	G	NM_139281		110428207	1	tier1	-	no_errors	ENST00000506538	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	110428207	G	T	110428207	3	4	14	1	0	0	0	0	1	0	0	0	17339	1116	39	2	223	2	WDR36	5	110428207	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	20321649	110428207	70487053	87	4319											
PHF15	23338	genome.wustl.edu	37	chr5	133873737	133873737	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcagcaccaagtcGggctggccccgacagaacga	10	3	12	16	3	0	1	0	0	0	1	1	3	0	1	4	2	4	3	4	2	2	0	rs115719583	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:133873737G>T	ENST00000402835.1	+	3	372	c.117G>T	c.(115-117)tcG>tcT	p.S39S	PHF15_ENST00000282605.4_Silent_p.S39S|PHF15_ENST00000395003.1_Silent_p.S39S|PHF15_ENST00000361895.2_Silent_p.S39S																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCACCAAGTCGGGCTGGCCCC	0.587																																																	0													72	68	70					5																	133873737		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000402835.1:c.117G>T	5.37:g.133873737G>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S39	ENST00000402835.1	37	c.117		5																																																																																			PHF15	-	NULL	ENSG00000043143		0.587	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1		0	25	0	G			133873737	1			no_errors	ENST00000395003	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.858	T	T	133873737	G	T	133873737	2	4	14	1	0	0	0	0	0	0	0	1	11865	1103	39	2		2	PHF15	5	133873737	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	23445530	133873737	47041523	88	4320											
IL9	3578	genome.wustl.edu	37	chr5	135228158	135228158	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaaatgtcagcgcgttGcctgccgtggtttggttgca	6	13	13	9	3	2	1	2	0	0	1	2	1	2	1	2	2	4	4	2	2	1	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:135228158G>T	ENST00000274520.1	-	5	367	c.357C>A	c.(355-357)ggC>ggA	p.G119G		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	119					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-5 biosynthetic process (GO:0045407)	extracellular space (GO:0005615)				large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGCGCGTTGCCTGCCGTGG	0.423																																																	0													74	81	79					5																	135228158		2203	4300	6503	SO:0001819	synonymous_variant	0			S63356	CCDS4189.1	5q31-q35	2008-07-18			ENSG00000145839	ENSG00000145839		"Interleukins and interleukin receptors"	6029	protein-coding gene	gene with protein product	"p40 T-cell and mast cell growth factor", "T-cell growth factor p40", "p40 cytokine", "homolog of mouse T cell and mast cell growth factor 40"	146931				8379467	Standard	NM_000590		Approved	IL-9, HP40, P40	uc003lbb.1	P15248	OTTHUMG00000129147	ENST00000274520.1:c.357C>A	5.37:g.135228158G>T				Silent	SNP	pfam_IL-7/IL-9_fam,prints_IL-9	p.G119	ENST00000274520.1	37	c.357	CCDS4189.1	5																																																																																			IL9	-	pfam_IL-7/IL-9_fam,prints_IL-9	ENSG00000145839		0.423	IL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9	HGNC	protein_coding	OTTHUMT00000251210.1		0	67	0	G	NM_000590		135228158	-1			no_errors	ENST00000274520	ensembl	human	known	74_37	silent	5.38	88	5	SNP	0.964	T	T	135228158	G	T	135228158	2	4	14	1	0	0	0	0	0	0	0	1	7734	1306	46	3		3	IL9	5	135228158	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1354421	135228158	45687102	89	4321											
HSPA9	3313	genome.wustl.edu	37	chr5	137895634	137895634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtttcaatacccagagaCaggggagtgacatcaaggag	15	6	13	7	0	2	3	2	1	0	2	2	6	2	5	1	3	1	1	1	3	3	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:137895634C>T	ENST00000297185.3	-	11	1454	c.1329G>A	c.(1327-1329)ctG>ctA	p.L443L	HSPA9_ENST00000501917.2_Intron|SNORD63_ENST00000384262.1_RNA|SNORD63_ENST00000411005.1_RNA	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	443					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TACCCAGAGACAGGGGAGTGA	0.498																																																	0													79	77	78					5																	137895634		2203	4300	6503	SO:0001819	synonymous_variant	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.1329G>A	5.37:g.137895634C>T			B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.L443	ENST00000297185.3	37	c.1329	CCDS4208.1	5																																																																																			HSPA9	-	pfam_Hsp_70_fam,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.498	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	-	0	56	0	C	NM_004134		137895634	-1	tier1	-	no_errors	ENST00000297185	ensembl	human	known	74_37	silent	25.35	53	18	SNP	0.822	T	T	137895634	C	T	137895634	2	4	14	1	0	0	0	0	0	0	0	1	7444	465	17	3		3	HSPA9	5	137895634	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	2667476	137895634	43019626	90	4322											
SPINK5	11005	genome.wustl.edu	37	chr5	147481362	147481362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttgtgtagtgaatacCgcaaatccaggaaaaacgga	16	7	12	6	2	0	1	0	1	0	0	1	4	1	4	2	3	2	3	2	3	6	3	rs550961797		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:147481362C>T	ENST00000256084.7	+	15	1363	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	SPINK5_ENST00000398454.1_Missense_Mutation_p.R441C|SPINK5_ENST00000359874.3_Missense_Mutation_p.R441C	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	441	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.		R -> H (in dbSNP:rs34393923).		anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGAATACCGCAAATCCAG	0.438													C|||	1	0.000199681	0	0	5008	,	,		18421	0		0	False		,,,				2504	0.001																0													97	92	94					5																	147481362		1880	4110	5990	SO:0001583	missense	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1321C>T	5.37:g.147481362C>T	ENSP00000256084:p.Arg441Cys		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.R441C	ENST00000256084.7	37	c.1321	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441842	0.43326	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	3.99	3.12	0.35913	Proteinase inhibitor I1, Kazal (1);	0.509013	0.18397	N	0.142461	T	0.26593	0.0650	M	0.82323	2.585	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.997;0.972;0.997	T	0.02743	-1.1116	10	0.48119	T	0.1	-3.3977	7.3873	0.26891	0.0:0.884:0.0:0.116	.	422;441;441;441	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	C	441;441;422;441	ENSP00000381472:R441C;ENSP00000352936:R441C;ENSP00000421519:R422C;ENSP00000256084:R441C	ENSP00000256084:R441C	R	+	1	0	SPINK5	147461555	0.294000	0.24380	0.013000	0.15412	0.002000	0.02628	0.871000	0.28023	1.248000	0.43934	0.650000	0.86243	CGC	SPINK5	-	smart_Kazal_dom	ENSG00000133710		0.438	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	-	0	28	0	C	NM_001127698		147481362	1	tier1	-	no_errors	ENST00000359874	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.023	T	T	147481362	C	T	147481362	3	4	14	1	0	0	0	0	1	0	0	0	15109	652	23	1	1379	1	SPINK5	5	147481362	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	9585728	147481362	33433898	91	4323											
SLC26A2	1836	genome.wustl.edu	37	chr5	149357798	149357798	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatagtgctccttccttaGgaatggtttcaaatgggagc	9	12	10	10	0	1	0	1	0	0	0	3	2	3	2	3	3	2	2	3	3	4	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:149357798G>T	ENST00000286298.4	+	2	851	c.583G>T	c.(583-585)Gga>Tga	p.G195*		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	195					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCCTTCCTTAGGAATGGTTTC	0.413																																																	0													142	130	134					5																	149357798		2203	4300	6503	SO:0001587	stop_gained	0			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.583G>T	5.37:g.149357798G>T	ENSP00000286298:p.Gly195*		A8K2U3|B2R6J1|Q6N051	Nonsense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.G195*	ENST00000286298.4	37	c.583	CCDS4300.1	5	.	.	.	.	.	.	.	.	.	.	G	7.731	0.699165	0.15106	.	.	ENSG00000155850	ENST00000286298;ENST00000503336	.	.	.	5.21	3.05	0.35203	.	155.122000	0.01777	U	0.031556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	6.2729	0.20965	0.2289:0.0:0.6288:0.1423	.	.	.	.	X	195;86	.	ENSP00000286298:G195X	G	+	1	0	SLC26A2	149337991	0.002000	0.14202	0.013000	0.15412	0.069000	0.16628	0.707000	0.25704	1.161000	0.42604	0.655000	0.94253	GGA	SLC26A2	-	tigrfam_SulP_transpt	ENSG00000155850		0.413	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	-	0	17	0	G	NM_000112		149357798	1	tier1	-	no_errors	ENST00000286298	ensembl	human	known	74_37	nonsense	26.47	25	9	SNP	0.000	T	T	149357798	G	T	149357798	4	4	14	1	0	0	0	0	0	1	0	0	14562	1001	35	3	585	3	SLC26A2	5	149357798	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1876436	149357798	31557462	92	4324											
TNIP1	10318	genome.wustl.edu	37	chr5	150411870	150411870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgtaggcctggctgtGggagggtccatcacttggga	5	11	17	8	0	2	0	1	0	1	0	3	2	3	2	2	6	0	3	2	6	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:150411870G>A	ENST00000389378.2	-	17	2442	c.1854C>T	c.(1852-1854)ccC>ccT	p.P618P	TNIP1_ENST00000521423.1_5'UTR|TNIP1_ENST00000523200.1_Silent_p.P554P|TNIP1_ENST00000522226.1_Silent_p.P618P|TNIP1_ENST00000315050.7_Silent_p.P618P|TNIP1_ENST00000521591.1_Silent_p.P618P|TNIP1_ENST00000523338.1_Silent_p.P618P|TNIP1_ENST00000518977.1_Silent_p.P618P|TNIP1_ENST00000520931.1_Silent_p.P565P|TNIP1_ENST00000524280.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	618	Pro-rich.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGGCTGTGGGAGGGTCCA	0.532																																																	0													92	86	88					5																	150411870		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1854C>T	5.37:g.150411870G>A			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	superfamily_ARM-type_fold	p.P618	ENST00000389378.2	37	c.1854	CCDS34280.1	5																																																																																			TNIP1	-	NULL	ENSG00000145901		0.532	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1	-	0	52	0	G	NM_006058		150411870	-1	tier1	-	no_errors	ENST00000315050	ensembl	human	known	74_37	silent	27.27	48	18	SNP	0.000	A	A	150411870	G	A	150411870	2	1	14	1	0	0	0	0	0	0	0	1	16361	1335	47	3		3	TNIP1	5	150411870	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1054072	150411870	30503390	93	4325											
LCP2	3937	genome.wustl.edu	37	chr5	169685150	169685150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataggaagtagtgctggctGgggcaaaggtctctgatgca	10	9	15	7	0	1	1	0	1	1	0	2	2	1	2	0	5	2	5	0	5	4	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:169685150G>T	ENST00000046794.5	-	16	1606	c.991C>A	c.(991-993)Cag>Aag	p.Q331K	LCP2_ENST00000521416.1_Missense_Mutation_p.Q126K	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	331					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		AGTGCTGGCTGGGGCAAAGGT	0.502																																																	0													181	180	180					5																	169685150		1950	4146	6096	SO:0001583	missense	0				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.991C>A	5.37:g.169685150G>T	ENSP00000046794:p.Gln331Lys		A8KA25|Q53XV4	Missense_Mutation	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.Q331K	ENST00000046794.5	37	c.991	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743804	0.49151	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	T;T	0.44881	0.92;0.91	5.72	5.72	0.89469	.	0.209904	0.41938	D	0.000798	T	0.38639	0.1048	L	0.53249	1.67	0.41128	D	0.985867	B;B	0.32717	0.381;0.267	B;B	0.26517	0.07;0.05	T	0.14504	-1.0470	9	.	.	.	-5.9745	16.9613	0.86273	0.0:0.0:1.0:0.0	.	126;331	E7ESF6;Q13094	.;LCP2_HUMAN	K	331;126;98	ENSP00000046794:Q331K;ENSP00000428871:Q126K	.	Q	-	1	0	LCP2	169617728	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.895000	0.69814	2.865000	0.98341	0.655000	0.94253	CAG	LCP2	-	NULL	ENSG00000043462		0.502	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1		0	26	0	G	NM_005565		169685150	-1			no_errors	ENST00000046794	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	169685150	G	T	169685150	3	4	14	1	0	0	0	0	1	0	0	0	8720	1357	47	3	634	3	LCP2	5	169685150	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	19273280	169685150	11230110	94	4326											
NSD1	64324	genome.wustl.edu	37	chr5	176678794	176678794	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtggggctttccacctgGagtgccttggattgactgag	5	12	15	9	0	0	2	0	2	0	0	1	4	1	4	3	4	1	2	3	4	0	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:176678794G>T	ENST00000439151.2	+	12	4750	c.4705G>T	c.(4705-4707)Gag>Tag	p.E1569*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1300*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1466*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1300*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1569					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTTCCACCTGGAGTGCCTTGG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													125	122	123					5																	176678794		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4705G>T	5.37:g.176678794G>T	ENSP00000395929:p.Glu1569*		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1569*	ENST00000439151.2	37	c.4705	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	43	9.944863	0.99302	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.18	4.24	0.50183	.	0.097480	0.45361	D	0.000361	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.9365	0.70960	0.0:0.2685:0.7315:0.0	.	.	.	.	X	1300;1569;1300;1466	.	ENSP00000343209:E1300X	E	+	1	0	NSD1	176611400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.057000	0.41365	2.586000	0.87340	0.655000	0.94253	GAG	NSD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000165671		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	53	0	G	NM_172349		176678794	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	nonsense	31.43	48	22	SNP	1.000	T	T	176678794	G	T	176678794	4	4	14	1	0	0	0	0	0	1	0	0	10708	1175	41	3	4747	3	NSD1	5	176678794	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	6993644	176678794	4236466	95	4327											
NSD1	64324	genome.wustl.edu	37	chr5	176709523	176709523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagaagaatgcagagctCgaattcgctatgctcaagaa	16	8	10	7	2	1	5	1	1	0	4	3	6	1	5	0	0	3	4	0	0	7	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr5:176709523C>T	ENST00000439151.2	+	19	5995	c.5950C>T	c.(5950-5952)Cga>Tga	p.R1984*	NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1881*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1984	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		R -> Q (in SOTOS1; loss of enzyme activity). {ECO:0000269|PubMed:12807965}.		gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCAGAGCTCGAATTCGCTA	0.373			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			GRCh37	CM043040|CM051589	NSD1	M							211	206	208					5																	176709523		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5950C>T	5.37:g.176709523C>T	ENSP00000395929:p.Arg1984*		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R1984*	ENST00000439151.2	37	c.5950	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.810564	0.99605	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.77	5.77	0.91146	.	0.000000	0.48767	D	0.000166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5706	0.76333	0.1385:0.8615:0.0:0.0	.	.	.	.	X	1715;1984;1715;1881	.	ENSP00000343209:R1715X	R	+	1	2	NSD1	176642129	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.468000	0.45102	2.884000	0.98904	0.655000	0.94253	CGA	NSD1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000165671		0.373	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	41	0	C	NM_172349		176709523	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	nonsense	22.22	28	8	SNP	1.000	T	T	176709523	C	T	176709523	4	4	14	1	0	0	0	0	0	1	0	0	10708	876	31	1	6020	1	NSD1	5	176709523	Nonsense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	30729	176709523	4205737	96	4328											
HIST1H2AB	8335	genome.wustl.edu	37	chr6	26033431	26033432	+	Frame_Shift_Ins	INS	-	-	T																															ccttggccttatgatggctcINStcagttttcttaggcagcag																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:26033431_26033432insT	ENST00000259791.2	-	1	364_365	c.365_366insA	c.(364-366)gagfs	p.E122fs	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TATGATGGCTCTCAGTTTTCTT	0.485																																																	0																																										SO:0001589	frameshift_variant	0			X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"Histones / Replication-dependent"	4734	protein-coding gene	gene with protein product		602795	"H2A histone family, member M", "histone 1, H2ab"	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.366dupA	6.37:g.26033432_26033432dupT	ENSP00000259791:p.Glu122fs		P28001|Q76P63	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S123fs	ENST00000259791.2	37	c.366_365	CCDS4574.1	6																																																																																			HIST1H2AB	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000137259		0.485	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AB	HGNC	protein_coding	OTTHUMT00000040082.1		0	34	0	-	NM_003513		26033432	-1	tier1		no_errors	ENST00000259791	ensembl	human	known	74_37	frame_shift_ins	26.67	44	16	INS	1.000:1.000	T	T	26033432	-	T	26033431	7	5	14	1	0	1	1	0	0	0	0	0	7156	912	32	0	30	0	HIST1H2AB	6	26033431	Frame_Shift_Ins	INS	-	TCGA-IC-A6RF-01A-13D-A33E-09		26033431	145081636	97	4329											
HIST1H2AC	8334	genome.wustl.edu	37	chr6	26124548	26124548	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccagttcccggtgggcCgagtgcaccgcctgctccgt	3	9	13	16	4	1	0	0	0	1	0	4	1	3	0	6	2	2	3	6	2	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:26124548C>T	ENST00000602637.1	+	1	118	c.88C>T	c.(88-90)Cga>Tga	p.R30*	HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2AC_ENST00000377791.2_Nonsense_Mutation_p.R30*|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CCCGGTGGGCCGAGTGCACCG	0.622																																																	0													45	46	45					6																	26124548		2203	4300	6503	SO:0001587	stop_gained	0			Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"Histones / Replication-dependent"	4733	protein-coding gene	gene with protein product		602794	"H2A histone family, member L", "histone 1, H2ac"	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.88C>T	6.37:g.26124548C>T	ENSP00000473534:p.Arg30*		B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R30*	ENST00000602637.1	37	c.88	CCDS4585.1	6	.	.	.	.	.	.	.	.	.	.	.	17.51	3.406638	0.62399	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	.	.	.	5.6	2.75	0.32379	.	0.000000	0.38720	N	0.001584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2044	0.65725	0.3912:0.6087:0.0:0.0	.	.	.	.	X	30	.	ENSP00000321389:R30X	R	+	1	2	HIST1H2AC	26232527	0.998000	0.40836	0.721000	0.30653	0.041000	0.13682	3.810000	0.55613	0.353000	0.24079	0.591000	0.81541	CGA	HIST1H2AC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000180573		0.622	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AC	HGNC	protein_coding	OTTHUMT00000468023.1	-	0	50	0	C	NM_003512		26124548	1	tier1	-	no_errors	ENST00000314088	ensembl	human	known	74_37	nonsense	23.33	46	14	SNP	1.000	T	T	26124548	C	T	26124548	4	4	14	1	0	0	0	0	0	1	0	0	7157	644	23	1	90	1	HIST1H2AC	6	26124548	Nonsense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	91117	26124548	144990519	98	4330											
HIST1H1D	3007	genome.wustl.edu	37	chr6	26234794	26234794	+	Frame_Shift_Del	DEL	T	T	-																															taggcttggctgcgccagccTttttggccttgggtttgcct																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:26234794delT	ENST00000244534.5	-	1	422	c.368delA	c.(367-369)aagfs	p.K123fs		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	123					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGCGCCAGCCTTTTTGGCCTT	0.567																																																	0													52	59	57					6																	26234794		2203	4300	6503	SO:0001589	frameshift_variant	0			M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"Histones / Replication-dependent"	4717	protein-coding gene	gene with protein product		142210	"H1 histone family, member 3", "histone 1, H1d"	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.368delA	6.37:g.26234794delT	ENSP00000244534:p.Lys123fs		B2R751|Q2M2I2	Frame_Shift_Del	DEL	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K123fs	ENST00000244534.5	37	c.368	CCDS4597.1	6																																																																																			HIST1H1D	-	NULL	ENSG00000124575		0.567	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1D	HGNC	protein_coding	OTTHUMT00000040095.1		0	27	0	T	NM_005320		26234794	-1	tier1		no_errors	ENST00000244534	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	0.994	-	-	26234794	T	-	26234794	7	5	14	1	0	1	0	1	0	0	0	0	7152	1609	56	0	301	0	HIST1H1D	6	26234794	Frame_Shift_Del	DEL	T	TCGA-IC-A6RF-01A-13D-A33E-09	110246	26234794	144880273	99	4331											
OR2B6	26212	genome.wustl.edu	37	chr6	27925709	27925709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtattgaggatacagtctGctgaaggtcgacaaaaagca	15	8	11	7	1	1	2	0	2	1	0	2	4	1	3	0	2	3	3	0	2	5	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:27925709G>T	ENST00000244623.1	+	1	691	c.691G>T	c.(691-693)Gct>Tct	p.A231S		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GATACAGTCTGCTGAAGGTCG	0.428																																																	0													188	182	184					6																	27925709		2203	4300	6503	SO:0001583	missense	0			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.691G>T	6.37:g.27925709G>T	ENSP00000244623:p.Ala231Ser		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A231S	ENST00000244623.1	37	c.691	CCDS4642.1	6	.	.	.	.	.	.	.	.	.	.	g	6.707	0.499132	0.12762	.	.	ENSG00000124657	ENST00000244623	T	0.00174	8.62	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.242522	0.20369	U	0.093696	T	0.00109	0.0003	N	0.20530	0.585	0.25312	N	0.989193	B	0.27380	0.177	P	0.48571	0.582	T	0.46978	-0.9152	10	0.28530	T	0.3	.	13.417	0.60974	0.0:0.0:1.0:0.0	.	231	P58173	OR2B6_HUMAN	S	231	ENSP00000244623:A231S	ENSP00000244623:A231S	A	+	1	0	OR2B6	28033688	0.000000	0.05858	0.339000	0.25562	0.169000	0.22640	0.823000	0.27366	1.898000	0.54952	0.467000	0.42956	GCT	OR2B6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000124657		0.428	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B6	HGNC	protein_coding	OTTHUMT00000040165.1	-	0	32	0	G			27925709	1	tier1	-	no_errors	ENST00000244623	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.874	T	T	27925709	G	T	27925709	3	4	14	1	0	0	0	0	1	0	0	0	11030	1319	46	3	693	3	OR2B6	6	27925709	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1690915	27925709	143189358	100	4332											
PRRT1	80863	genome.wustl.edu	37	chr6	32117443	32117443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccctgggccctggggCggcggggggagagtggaggt	4	4	23	10	2	0	1	0	0	0	1	0	3	0	2	3	9	1	0	3	9	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:32117443C>T	ENST00000211413.5	-	3	739	c.615G>A	c.(613-615)ccG>ccA	p.P205P	PRRT1_ENST00000375152.2_Silent_p.P124P|PRRT1_ENST00000375150.2_Silent_p.P124P|PRRT1_ENST00000467780.1_5'UTR	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	205	Poly-Pro.				response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGCCCTGGGGCGGCGGGGGGA	0.672																																																	0													23	26	25					6																	32117443		1500	2698	4198	SO:0001819	synonymous_variant	0			AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"Proline-rich transmembrane proteins"	13943	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 7"		"chromosome 6 open reading frame 31"	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.615G>A	6.37:g.32117443C>T			A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Silent	SNP	pfam_CD225/Dispanin_fam	p.P205	ENST00000211413.5	37	c.615	CCDS4739.1	6																																																																																			PRRT1	-	NULL	ENSG00000204314		0.672	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT1	HGNC	protein_coding	OTTHUMT00000076255.2	-	0	19	0	C	NM_030651		32117443	-1	tier1	-	no_errors	ENST00000211413	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.943	T	T	32117443	C	T	32117443	2	4	14	1	0	0	0	0	0	0	0	1	12651	755	27	1		1	PRRT1	6	32117443	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	4191734	32117443	138997624	101	4333											
RIMS1	22999	genome.wustl.edu	37	chr6	72955519	72955519	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatcctgtttcttttagtGacattccccggattcctgag	7	16	7	11	1	1	2	0	2	1	0	4	3	4	3	4	1	0	1	4	1	2	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:72955519G>T	ENST00000521978.1	+	11	2083	c.2083G>T	c.(2083-2085)Gac>Tac	p.D695Y	RIMS1_ENST00000425662.2_Splice_Site_p.D88Y|RIMS1_ENST00000517960.1_Splice_Site_p.D695Y|RIMS1_ENST00000401910.3_Splice_Site_p.D169Y|RIMS1_ENST00000518273.1_Splice_Site_p.D695Y|RIMS1_ENST00000523963.1_Splice_Site_p.D169Y|RIMS1_ENST00000348717.5_Splice_Site_p.D695Y|RIMS1_ENST00000517827.1_Splice_Site_p.D154Y|RIMS1_ENST00000520567.1_Splice_Site_p.D695Y|RIMS1_ENST00000264839.7_Splice_Site_p.D695Y|RIMS1_ENST00000491071.2_Splice_Site_p.D695Y|RIMS1_ENST00000522291.1_Splice_Site_p.D695Y	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	695					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTCTTTTAGTGACATTCCCCG	0.408																																																	0													93	87	89					6																	72955519		1819	4081	5900	SO:0001630	splice_region_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2082-1G>T	6.37:g.72955519G>T			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.D695Y	ENST00000521978.1	37	c.2083	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.468911|4.468911	0.84533|0.84533	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.38887|.	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11|.	5.96|5.96	5.96|5.96	0.96718|0.96718	PDZ/DHR/GLGF (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|.	0.56046|.	0.1959|.	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;D|.	0.89917|.	0.602;0.999;1.0;1.0;1.0;1.0;1.0|.	B;D;D;D;D;D;D|.	0.91635|.	0.416;0.994;0.998;0.987;0.999;0.999;0.987|.	T|.	0.49872|.	-0.8893|.	10|.	0.87932|.	D|.	0|.	-20.519|-20.519	20.394|20.394	0.98981|0.98981	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	154;169;695;154;169;695;695|.	B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	Y|L	695;695;695;695;695;695;695;695;695;695;695;695;169;169;88;88;154|268	ENSP00000430101:D695Y;ENSP00000275037:D695Y;ENSP00000264839:D695Y;ENSP00000429959:D695Y;ENSP00000430408:D695Y;ENSP00000430502:D695Y;ENSP00000430932:D695Y;ENSP00000428417:D695Y;ENSP00000385649:D169Y;ENSP00000428328:D169Y;ENSP00000411235:D88Y;ENSP00000389503:D88Y;ENSP00000428367:D154Y|.	ENSP00000264839:D695Y|.	D|X	+|+	1|2	0|2	RIMS1|RIMS1	73012240|73012240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.476000|9.476000	0.97823|0.97823	2.830000|2.830000	0.97506|0.97506	0.585000|0.585000	0.79938|0.79938	GAC|TGA	RIMS1	-	superfamily_PDZ	ENSG00000079841		0.408	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1		0	62	0	G		Missense_Mutation	72955519	1			no_errors	ENST00000521978	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	72955519	G	T	72955519	5	4	14	1	0	0	0	0	0	0	1	0	13412	1304	45	3	2288	3	RIMS1	6	72955519	Splice_Site	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	40838076	72955519	98159548	102	4334											
CD109	135228	genome.wustl.edu	37	chr6	74497121	74497121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaaattcctatcacagtCacagctctttcacccactgc	11	10	6	14	0	4	1	3	0	1	1	5	2	5	1	2	1	2	1	2	1	2	3	rs143756315		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:74497121C>T	ENST00000287097.5	+	21	2614	c.2502C>T	c.(2500-2502)gtC>gtT	p.V834V	CD109_ENST00000437994.2_Silent_p.V834V|CD109_ENST00000422508.2_Silent_p.V757V			Q6YHK3	CD109_HUMAN	CD109 molecule	834					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATCACAGTCACAGCTCTTT	0.448																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	114	110	111		2502,2271,2502	-1.3	0.2	6	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CD109	NM_001159587.1,NM_001159588.1,NM_133493.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	834/1429,757/1369,834/1446	74497121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2502C>T	6.37:g.74497121C>T			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.V834	ENST00000287097.5	37	c.2502	CCDS4982.1	6																																																																																			CD109	-	NULL	ENSG00000156535		0.448	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0	36	0	C	NM_133493		74497121	1	tier1	rs143756315	no_errors	ENST00000287097	ensembl	human	known	74_37	silent	25.40	47	16	SNP	0.997	T	T	74497121	C	T	74497121	2	4	14	1	0	0	0	0	0	0	0	1	2970	813	29	3		3	CD109	6	74497121	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1541602	74497121	96617946	103	4335											
COL12A1	1303	genome.wustl.edu	37	chr6	75860877	75860877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacctttgacactgttaCacaaattaatggtgagatca	13	12	8	8	0	1	2	1	2	0	1	1	4	1	3	1	2	1	1	1	2	3	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:75860877C>G	ENST00000322507.8	-	21	4436	c.4127G>C	c.(4126-4128)tGt>tCt	p.C1376S	COL12A1_ENST00000483888.2_Missense_Mutation_p.C1376S|COL12A1_ENST00000345356.6_Missense_Mutation_p.C212S|COL12A1_ENST00000416123.2_Missense_Mutation_p.C1376S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1376					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GACACTGTTACACAAATTAAT	0.428																																																	0													153	147	149					6																	75860877		1898	4119	6017	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4127G>C	6.37:g.75860877C>G	ENSP00000325146:p.Cys1376Ser		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.C1376S	ENST00000322507.8	37	c.4127	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229671	0.79688	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.6	5.6	0.85130	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.90556	0.7040	M	0.87038	2.855	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.996;0.993	D	0.91362	0.5112	10	0.72032	D	0.01	.	19.601	0.95561	0.0:1.0:0.0:0.0	.	212;1376	Q99715-2;Q99715	.;COCA1_HUMAN	S	1376;1376;212;1376;1376	ENSP00000325146:C1376S;ENSP00000305147:C212S;ENSP00000412864:C1376S;ENSP00000421216:C1376S	ENSP00000325146:C1376S	C	-	2	0	COL12A1	75917597	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	7.487000	0.81328	2.631000	0.89168	0.655000	0.94253	TGT	COL12A1	-	smart_VWF_A	ENSG00000111799		0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	64	0	C	NM_004370		75860877	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	G	G	75860877	C	G	75860877	3	3	14	1	0	0	0	0	1	0	0	0	3676	478	17	5	5248	5	COL12A1	6	75860877	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1363756	75860877	95254190	104	4336											
PRSS35	167681	genome.wustl.edu	37	chr6	84233206	84233206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttcacccctgggtggAccctcattgatggatctgaa	8	14	9	10	0	3	2	2	2	1	0	3	4	3	4	3	3	0	0	3	3	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:84233206A>G	ENST00000369700.3	+	2	223	c.46A>G	c.(46-48)Acc>Gcc	p.T16A	PRSS35_ENST00000536636.1_Missense_Mutation_p.T16A	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	16						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCCTGGGTGGACCCTCATTGA	0.403																																																	0													102	103	102					6																	84233206		2203	4300	6503	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.46A>G	6.37:g.84233206A>G	ENSP00000358714:p.Thr16Ala		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.T16A	ENST00000369700.3	37	c.46	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.989807	0.00439	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.42900	0.96;0.96	5.37	-3.27	0.05048	.	1.084670	0.07022	N	0.826906	T	0.08891	0.0220	L	0.45137	1.4	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23976	-1.0173	10	0.06236	T	0.91	-0.1223	5.9556	0.19271	0.2884:0.1117:0.4911:0.1088	.	16	Q8N3Z0	PRS35_HUMAN	A	16	ENSP00000440870:T16A;ENSP00000358714:T16A	ENSP00000358714:T16A	T	+	1	0	PRSS35	84289925	0.001000	0.12720	0.024000	0.17045	0.046000	0.14306	-0.160000	0.10041	-0.887000	0.03961	-1.243000	0.01532	ACC	PRSS35	-	NULL	ENSG00000146250		0.403	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	-	0	46	0	A	NM_153362		84233206	1	tier1	-	no_errors	ENST00000369700	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.001	G	G	84233206	A	G	84233206	3	3	14	1	0	0	0	0	1	0	0	0	12666	275	10	4	48	4	PRSS35	6	84233206	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	8372329	84233206	86881861	105	4337											
LAMA4	3910	genome.wustl.edu	37	chr6	112462605	112462605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcaggccaggaactgacgGgcttggagtccaggggaatc	11	5	16	9	1	0	1	0	1	0	0	2	4	1	4	2	6	2	2	2	6	3	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:112462605G>T	ENST00000230538.7	-	21	3165	c.2768C>A	c.(2767-2769)cCc>cAc	p.P923H	LAMA4_ENST00000424408.2_Missense_Mutation_p.P916H|LAMA4_ENST00000522006.1_Missense_Mutation_p.P916H|LAMA4_ENST00000389463.4_Missense_Mutation_p.P916H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	923	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGAACTGACGGGCTTGGAGTC	0.418																																																	0													121	120	120					6																	112462605		2203	4300	6503	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2768C>A	6.37:g.112462605G>T	ENSP00000230538:p.Pro923His		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.P923H	ENST00000230538.7	37	c.2768	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804398	0.90623	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.66	5.66	0.87406	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.52757	0.1754	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.52283	-0.8596	10	0.59425	D	0.04	.	19.8315	0.96638	0.0:0.0:1.0:0.0	.	923;916	Q16363;Q16363-2	LAMA4_HUMAN;.	H	923;916;916;916	ENSP00000230538:P923H;ENSP00000429488:P916H;ENSP00000374114:P916H;ENSP00000416470:P916H	ENSP00000230538:P923H	P	-	2	0	LAMA4	112569298	1.000000	0.71417	0.995000	0.50966	0.940000	0.58332	9.387000	0.97232	2.682000	0.91365	0.552000	0.68991	CCC	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	-	0	27	0	G	NM_001105206		112462605	-1	tier1	-	no_errors	ENST00000230538	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	112462605	G	T	112462605	3	4	14	1	0	0	0	0	1	0	0	0	8636	1232	43	3	2779	3	LAMA4	6	112462605	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	28229399	112462605	58652462	106	4338											
TAB2	23118	genome.wustl.edu	37	chr6	149699391	149699391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagtgatggacaacttcaaGgtggccagtccaatagtgaa	13	10	11	7	0	1	2	1	2	0	0	2	3	2	3	2	3	1	0	2	3	6	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:149699391G>T	ENST00000367456.1	+	4	917	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C	TAB2_ENST00000392282.1_Missense_Mutation_p.G114C|TAB2_ENST00000286332.5_Missense_Mutation_p.G114C|TAB2_ENST00000536230.1_Missense_Mutation_p.G82C|TAB2_ENST00000538427.1_Missense_Mutation_p.G114C			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	114					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACAACTTCAAGGTGGCCAGTC	0.458																																																	0													96	83	87					6																	149699391		2203	4300	6503	SO:0001583	missense	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.340G>T	6.37:g.149699391G>T	ENSP00000356426:p.Gly114Cys		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.G114C	ENST00000367456.1	37	c.340	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	4.051	0.007175	0.07866	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	5.96	4.18	0.49190	.	0.669501	0.16577	N	0.208352	T	0.45034	0.1322	L	0.36672	1.1	0.36509	D	0.869466	P;P	0.40619	0.724;0.724	B;B	0.37091	0.241;0.241	T	0.52510	-0.8566	10	0.54805	T	0.06	-4.6568	9.9553	0.41663	0.2445:0.0:0.7555:0.0	.	82;114	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	C	82;114;114;114;114	ENSP00000443206:G82C;ENSP00000376106:G114C;ENSP00000445752:G114C;ENSP00000356426:G114C;ENSP00000286332:G114C	ENSP00000286332:G114C	G	+	1	0	TAB2	149741084	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	2.686000	0.46968	1.536000	0.49237	0.650000	0.86243	GGT	TAB2	-	NULL	ENSG00000055208		0.458	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	-	0	37	0	G			149699391	1	tier1	-	no_errors	ENST00000286332	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.998	T	T	149699391	G	T	149699391	3	4	14	1	0	0	0	0	1	0	0	0	15543	1000	35	3	346	3	TAB2	6	149699391	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	37236786	149699391	21415676	107	4339											
C6orf97	80129	genome.wustl.edu	37	chr6	151859407	151859407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccaggaattaaagaaGaaagttgtagagttaaatga	20	8	11	2	0	0	5	0	1	0	4	0	7	0	6	1	1	1	3	1	1	9	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr6:151859407G>T	ENST00000239374.7	+	3	513	c.414G>T	c.(412-414)aaG>aaT	p.K138N	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Missense_Mutation_p.K138N	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	138																	AATTAAAGAAGAAAGTTGTAG	0.348																																																	0													58	50	53					6																	151859407		1829	4078	5907	SO:0001583	missense	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.414G>T	6.37:g.151859407G>T	ENSP00000239374:p.Lys138Asn		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.K138N	ENST00000239374.7	37	c.414	CCDS43515.1	6	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523084	0.44866	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08546	3.08;3.08	5.68	3.89	0.44902	.	0.178511	0.47093	D	0.000250	T	0.05227	0.0139	M	0.75447	2.3	0.35774	D	0.821127	P	0.39782	0.688	B	0.38562	0.276	T	0.18650	-1.0330	10	0.34782	T	0.22	-22.1113	9.0725	0.36502	0.22:0.0:0.78:0.0	.	138	Q8IYT3	CF097_HUMAN	N	138	ENSP00000239374:K138N;ENSP00000356259:K138N	ENSP00000239374:K138N	K	+	3	2	C6orf97	151901100	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.209000	0.42806	1.405000	0.46838	0.655000	0.94253	AAG	CCDC170	-	NULL	ENSG00000120262		0.348	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2		0	39	0	G	NM_025059		151859407	1			no_errors	ENST00000367290	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	151859407	G	T	151859407	3	4	14	1	0	0	0	0	1	0	0	0	2381	933	33	3	424	3	C6orf97	6	151859407	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2160016	151859407	19255660	108	4340											
SDK1	221935	genome.wustl.edu	37	chr7	3678687	3678687	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttttaccgctgcgtGgtgcgaaacagaatgggagc	8	9	16	8	3	0	1	0	0	0	1	0	3	0	2	1	3	5	3	1	3	3	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:3678687G>T	ENST00000404826.2	+	3	649	c.510G>T	c.(508-510)gtG>gtT	p.V170V	SDK1_ENST00000389531.3_Silent_p.V170V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	170	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCGCTGCGTGGTGCGAAACA	0.408																																																	0													79	69	72					7																	3678687		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.510G>T	7.37:g.3678687G>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V170	ENST00000404826.2	37	c.510	CCDS34590.1	7																																																																																			SDK1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000146555		0.408	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1		0	26	0	G	NM_152744		3678687	1			no_errors	ENST00000404826	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.996	T	T	3678687	G	T	3678687	2	4	14	1	0	0	0	0	0	0	0	1	14013	1335	47	3		3	SDK1	7	3678687	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		3678687	155459976	109	4341											
EVX1	2128	genome.wustl.edu	37	chr7	27284773	27284773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggcaccctggcgtgcagCgccagtgaccagatgcgtcg	8	5	14	14	4	0	2	0	1	0	1	1	2	0	2	3	2	3	2	3	2	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:27284773C>T	ENST00000496902.4	+	2	1020	c.534C>T	c.(532-534)agC>agT	p.S178S	EVX1_ENST00000222761.3_Missense_Mutation_p.A160V|EVX1_ENST00000535619.1_5'UTR|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519050.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	178					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TGGCGTGCAGCGCCAGTGACC	0.672																																																	0													39	43	42					7																	27284773		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"Homeoboxes / ANTP class : HOXL subclass"	3506	protein-coding gene	gene with protein product		142996	"eve, even-skipped homeobox homolog 1 (Drosophila)"			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.534C>T	7.37:g.27284773C>T			A4D199|B4DQJ0	Missense_Mutation	SNP	NULL	p.A160V	ENST00000496902.4	37	c.479	CCDS5413.1	7	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541584	0.45280	.	.	ENSG00000106038	ENST00000222761	.	.	.	5.41	1.61	0.23674	.	.	.	.	.	T	0.46190	0.1380	.	.	.	0.80722	D	1	B	0.21821	0.061	B	0.13407	0.009	T	0.34925	-0.9809	7	0.87932	D	0	-28.4442	8.6258	0.33888	0.0:0.6387:0.0:0.3613	.	160	F8W9J5	.	V	160	.	ENSP00000222761:A160V	A	+	2	0	EVX1	27251298	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	0.609000	0.24238	0.021000	0.15133	0.462000	0.41574	GCG	EVX1	-	NULL	ENSG00000106038		0.672	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVX1	HGNC	protein_coding	OTTHUMT00000358750.3	-	0	43	0	C			27284773	1	tier1	-	no_errors	ENST00000222761	ensembl	human	putative	74_37	missense	35.71	36	20	SNP	0.999	T	T	27284773	C	T	27284773	2	4	14	1	0	0	0	0	0	0	0	1	5310	767	27	1		1	EVX1	7	27284773	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	23606086	27284773	131853890	110	4342											
BMPER	168667	genome.wustl.edu	37	chr7	34014313	34014313	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttgtctgctttccaGgctgtgtgtttgagggtgtg	5	16	13	7	0	2	1	0	1	2	0	3	1	3	1	1	2	2	3	1	2	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:34014313G>T	ENST00000297161.2	+	7	867		c.e7-1		BMPER_ENST00000426693.1_Splice_Site	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator						blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTGCTTTCCAGGCTGTGTGTT	0.483																																																	0													259	234	243					7																	34014313		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.494-1G>T	7.37:g.34014313G>T			A8K1P8|Q8TF36	Splice_Site	SNP	-	e6-1	ENST00000297161.2	37	c.494-1	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	G	9.515	1.106893	0.20714	.	.	ENSG00000164619	ENST00000297161;ENST00000426693;ENST00000436222	.	.	.	5.33	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2728	0.60170	0.0782:0.0:0.9218:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BMPER	33980838	1.000000	0.71417	0.941000	0.38009	0.026000	0.11368	5.339000	0.65953	1.379000	0.46325	0.655000	0.94253	.	BMPER	-	-	ENSG00000164619		0.483	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	-	0	44	0	G	NM_133468	Intron	34014313	1	tier1	-	no_errors	ENST00000297161	ensembl	human	known	74_37	splice_site	36.71	50	29	SNP	1.000	T	T	34014313	G	T	34014313	5	4	14	1	0	0	0	0	0	0	1	0	1470	1014	35	3	515	3	BMPER	7	34014313	Splice_Site	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	6729540	34014313	125124350	111	4343											
SFRP4	6424	genome.wustl.edu	37	chr7	37947216	37947216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcgcccggctgttttCttcttgtcctgaactgttct	2	17	10	12	2	3	1	0	1	3	0	4	1	4	1	2	2	2	3	2	2	1	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:37947216C>A	ENST00000436072.2	-	6	1283	c.906G>T	c.(904-906)aaG>aaT	p.K302N	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	302	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGGCTGTTTTCTTCTTGTCCT	0.483																																																	0													107	107	107					7																	37947216		2203	4300	6503	SO:0001583	missense	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.906G>T	7.37:g.37947216C>A	ENSP00000410715:p.Lys302Asn		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.K302N	ENST00000436072.2	37	c.906	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622358	0.28889	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.64085	-0.08	5.83	4.04	0.47022	Netrin domain (1);	0.363813	0.30556	N	0.009369	T	0.37073	0.0990	N	0.12182	0.205	0.28954	N	0.890223	B	0.09022	0.002	B	0.06405	0.002	T	0.16630	-1.0396	10	0.23302	T	0.38	.	4.8421	0.13496	0.1498:0.6187:0.0:0.2315	.	302	Q6FHJ7	SFRP4_HUMAN	N	302;299	ENSP00000410715:K302N	ENSP00000410715:K302N	K	-	3	2	SFRP4	37913741	0.997000	0.39634	0.952000	0.39060	0.771000	0.43674	1.369000	0.34227	0.811000	0.34303	0.650000	0.86243	AAG	SFRP4	-	pfscan_Netrin_domain	ENSG00000106483		0.483	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	-	0	49	0	C	NM_003014		37947216	-1	tier1	-	no_errors	ENST00000436072	ensembl	human	known	74_37	missense	27.12	43	16	SNP	0.931	A	A	37947216	C	A	37947216	3	1	14	1	0	0	0	0	1	0	0	0	14208	912	32	3	138	3	SFRP4	7	37947216	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3932903	37947216	121191447	112	4344											
CDK13	8621	genome.wustl.edu	37	chr7	40102486	40102486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgaactgctactgggaGaagaacgatacacaccagcc	14	5	9	13	1	0	3	0	1	0	2	0	5	0	3	3	1	6	1	3	1	5	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:40102486G>A	ENST00000181839.4	+	8	3267	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	CDK13_ENST00000340829.5_Missense_Mutation_p.E888K|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	888	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCTACTGGGAGAAGAACGATA	0.368																																																	0													283	291	288					7																	40102486		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2662G>A	7.37:g.40102486G>A	ENSP00000181839:p.Glu888Lys		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E888K	ENST00000181839.4	37	c.2662	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	.	25.9	4.682459	0.88542	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.64991	-0.13;-0.13	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.66376	0.2783	N	0.13272	0.32	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.80764	0.977;0.994;0.975	T	0.64952	-0.6286	8	.	.	.	-18.1848	19.8265	0.96619	0.0:0.0:1.0:0.0	.	274;888;888	Q9BVE2;Q14004-2;Q14004	.;.;CDK13_HUMAN	K	888	ENSP00000181839:E888K;ENSP00000340557:E888K	.	E	+	1	0	CDK13	40069011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.770000	0.95276	0.563000	0.77884	GAA	CDK13	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000065883		0.368	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2		0	56	0	G	NM_003718		40102486	1			no_errors	ENST00000181839	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	40102486	G	A	40102486	3	1	14	1	0	0	0	0	1	0	0	0	3136	943	33	3	2692	3	CDK13	7	40102486	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2155270	40102486	119036177	113	4345											
SAMD9L	219285	genome.wustl.edu	37	chr7	92762703	92762703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctttgttccttggaagaaAgttggtaatttagtgcaata	11	16	9	5	0	1	1	0	0	1	1	2	2	2	2	1	2	1	4	1	2	6	8			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:92762703A>G	ENST00000318238.4	-	5	3798	c.2582T>C	c.(2581-2583)cTt>cCt	p.L861P	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L861P|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L861P	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	861					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGAAGAAAGTTGGTAATT	0.363																																																	0													92	100	97					7																	92762703		2203	4299	6502	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2582T>C	7.37:g.92762703A>G	ENSP00000326247:p.Leu861Pro		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.L861P	ENST00000318238.4	37	c.2582	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253912	0.59212	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.39787	1.06;1.06;1.06	4.71	3.52	0.40303	.	0.000000	0.64402	D	0.000006	T	0.60143	0.2246	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.61850	-0.6978	10	0.87932	D	0	-11.9435	10.2741	0.43499	0.8517:0.0:0.0:0.1483	.	861	Q8IVG5	SAM9L_HUMAN	P	861	ENSP00000326247:L861P;ENSP00000405760:L861P;ENSP00000408796:L861P	ENSP00000326247:L861P	L	-	2	0	SAMD9L	92600639	1.000000	0.71417	0.924000	0.36721	0.914000	0.54420	8.956000	0.93066	0.791000	0.33826	0.383000	0.25322	CTT	SAMD9L	-	superfamily_P-loop_NTPase	ENSG00000177409		0.363	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	17	0	A	NM_152703		92762703	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	G	G	92762703	A	G	92762703	3	3	14	1	0	0	0	0	1	0	0	0	13872	72	3	4	2176	4	SAMD9L	7	92762703	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	52660217	92762703	66375960	114	4346											
GIGYF1	64599	genome.wustl.edu	37	chr7	100285684	100285684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgtatttgggcatggcagGggacgggggtggggaggcca	6	8	21	6	1	0	0	0	0	0	0	0	2	0	2	1	9	0	3	1	9	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:100285684G>T	ENST00000275732.5	-	2	1294	c.85C>A	c.(85-87)Cct>Act	p.P29T	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	29					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGCATGGCAGGGGACGGGGGT	0.632																																																	0													76	73	74					7																	100285684		2203	4300	6503	SO:0001583	missense	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.85C>A	7.37:g.100285684G>T	ENSP00000275732:p.Pro29Thr		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P29T	ENST00000275732.5	37	c.85	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	23.7	4.447961	0.84101	.	.	ENSG00000146830	ENST00000275732	D	0.85171	-1.95	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.92306	0.7559	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92603	0.6093	10	0.59425	D	0.04	-8.7149	16.9692	0.86294	0.0:0.0:1.0:0.0	.	29	O75420	PERQ1_HUMAN	T	29	ENSP00000275732:P29T	ENSP00000275732:P29T	P	-	1	0	GIGYF1	100123620	1.000000	0.71417	0.986000	0.45419	0.517000	0.34286	9.174000	0.94824	2.597000	0.87782	0.563000	0.77884	CCT	GIGYF1	-	NULL	ENSG00000146830		0.632	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2		0	23	0	G	NM_022574		100285684	-1			no_errors	ENST00000275732	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	100285684	G	T	100285684	3	4	14	1	0	0	0	0	1	0	0	0	6403	1232	43	3	3114	3	GIGYF1	7	100285684	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7522981	100285684	58852979	115	4347											
MUC17	140453	genome.wustl.edu	37	chr7	100683921	100683921	+	Missense_Mutation	SNP	G	G	C																															aactcctgttgactccaacaGtcctgtggtcacttctactg																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:100683921G>C	ENST00000306151.4	+	3	9288	c.9224G>C	c.(9223-9225)aGt>aCt	p.S3075T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3075	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACTCCAACAGTCCTGTGGTC	0.473																																																	0													261	261	261					7																	100683921		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9224G>C	7.37:g.100683921G>C	ENSP00000302716:p.Ser3075Thr		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3075T	ENST00000306151.4	37	c.9224	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	0.769	-0.766643	0.02974	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.902	-1.76	0.08006	.	.	.	.	.	T	0.01061	0.0035	N	0.17082	0.46	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.48875	-0.8996	9	0.02654	T	1	.	0.2991	0.00270	0.2509:0.2889:0.2493:0.2109	.	3075	Q685J3	MUC17_HUMAN	T	3075	ENSP00000302716:S3075T	ENSP00000302716:S3075T	S	+	2	0	MUC17	100470641	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.363000	0.07593	-2.076000	0.00875	-2.023000	0.00429	AGT	MUC17	-	NULL	ENSG00000169876		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	142	0	G	NM_001040105		100683921	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	11.88	89	12	SNP	0.000	C	C	100683921	G	C	100683921	3	2	14	1	0	0	0	0	1	0	0	0	10012	1029	36	5	9234	5	MUC17	7	100683921	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	398237	100683921	58454742	116	4348	14	2	1	4		5	3	499	N	T_GT_G	8.839582e-06
MUC17	140453	genome.wustl.edu	37	chr7	100683929	100683930	+	Missense_Mutation	DNP	GT	GT	AC																															ttgactccaacagtcctgtgGtcacttctactgaagtcagt																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G|T	G|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:100683929_100683930GT>AC	ENST00000306151.4	+	3	9296_9297	c.9232_9233GT>AC	c.(9232-9234)GTc>ACc	p.V3078T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3078	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTCCTGTGGTCACTTCTACT	0.48																																																	0																																										SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	Exception_encountered	7.37:g.100683929_100683930delinsAC	ENSP00000302716:p.Val3078Thr		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.V3078I|p.V3078A	ENST00000306151.4	37	c.9232|c.9233	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.48	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	78	0	G|T	NM_001040105		100683929|100683930	1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.000	A|C	AC	100683930	GT	AC	100683929	3	1	14	1	0	0	0	0	1	0	0	0	10012	1261	44	3	9242	3	MUC17	7	100683929	Missense_Mutation	DNP	GT	TCGA-IC-A6RF-01A-13D-A33E-09	8	100683929	58454734	117	4349	14	2	1	4		5	3	499	N	T_GT_G	8.839582e-06
MUC17	140453	genome.wustl.edu	37	chr7	100684404	100684404	+	Missense_Mutation	SNP	G	G	T																															cagcaacacgccggtggccaGttctgaggctagcatccttt																								rs569041739		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:100684404G>T	ENST00000306151.4	+	3	9771	c.9707G>T	c.(9706-9708)aGt>aTt	p.S3236I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3236	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGGTGGCCAGTTCTGAGGCT	0.493																																																	0													259	267	264					7																	100684404		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9707G>T	7.37:g.100684404G>T	ENSP00000302716:p.Ser3236Ile		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3236I	ENST00000306151.4	37	c.9707	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	5.879	0.346270	0.11126	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	1.23	-2.46	0.06461	.	.	.	.	.	T	0.02342	0.0072	N	0.03608	-0.345	0.09310	N	1	D	0.55605	0.972	D	0.66497	0.944	T	0.43605	-0.9381	9	0.37606	T	0.19	.	4.4568	0.11647	0.0:0.4981:0.3211:0.1808	.	3236	Q685J3	MUC17_HUMAN	I	3236	ENSP00000302716:S3236I	ENSP00000302716:S3236I	S	+	2	0	MUC17	100471124	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.717000	0.04986	-0.837000	0.04223	0.121000	0.15741	AGT	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	58	0	G	NM_001040105		100684404	1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.000	T	T	100684404	G	T	100684404	3	4	14	1	0	0	0	0	1	0	0	0	10012	1029	36	3	9717	3	MUC17	7	100684404	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	475	100684404	58454259	118	4350	15	2	1	4		5	3	499	N	T_GT_G	8.839582e-06
MUC17	140453	genome.wustl.edu	37	chr7	100684406	100684406	+	Missense_Mutation	SNP	T	T	C																															gcaacacgccggtggccagtTctgaggctagcatcctttca																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:100684406T>C	ENST00000306151.4	+	3	9773	c.9709T>C	c.(9709-9711)Tct>Cct	p.S3237P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3237	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTGGCCAGTTCTGAGGCTAG	0.493																																																	0													258	266	264					7																	100684406		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9709T>C	7.37:g.100684406T>C	ENSP00000302716:p.Ser3237Pro		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S3237P	ENST00000306151.4	37	c.9709	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	N	3.322	-0.138472	0.06669	.	.	ENSG00000169876	ENST00000306151	T	0.02763	4.17	1.24	-2.48	0.06423	.	.	.	.	.	T	0.03608	0.0103	N	0.12182	0.205	0.09310	N	1	P	0.48350	0.909	D	0.63033	0.91	T	0.32666	-0.9898	9	0.33141	T	0.24	.	3.8572	0.08981	0.2166:0.512:0.0:0.2713	.	3237	Q685J3	MUC17_HUMAN	P	3237	ENSP00000302716:S3237P	ENSP00000302716:S3237P	S	+	1	0	MUC17	100471126	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.150000	0.03178	-1.329000	0.02258	-1.568000	0.00874	TCT	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	60	0	T	NM_001040105		100684406	1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	8.05	80	7	SNP	0.000	C	C	100684406	T	C	100684406	3	2	14	1	0	0	0	0	1	0	0	0	10012	1783	62	4	9719	4	MUC17	7	100684406	Missense_Mutation	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	2	100684406	58454257	119	4351	15	2	1	4		5	3	499	N	T_GT_G	8.839582e-06
MUC17	140453	genome.wustl.edu	37	chr7	100684419	100684419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagttctgaggctagcaTcctttcaacaactcctgttg	8	12	9	12	0	2	1	1	1	1	0	4	1	4	1	3	2	3	4	3	2	3	4	rs148148316	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:100684419T>C	ENST00000306151.4	+	3	9786	c.9722T>C	c.(9721-9723)aTc>aCc	p.I3241T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3241	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGGCTAGCATCCTTTCAACA	0.502													C|||	35	0.00698882	0.025	0.0014	5008	,	,		26381	0		0.001	False		,,,				2504	0																0								C	THR/ILE	118,4288		0,118,2085	271	277	275		9722	0.7	0	7	dbSNP_134	275	1,8599		0,1,4299	no	missense	MUC17	NM_001040105.1	89	0,119,6384	CC,CT,TT		0.0116,2.6782,0.915	possibly-damaging	3241/4494	100684419	119,12887	2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9722T>C	7.37:g.100684419T>C	ENSP00000302716:p.Ile3241Thr		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.I3241T	ENST00000306151.4	37	c.9722	CCDS34711.1	7	25	0.011446886446886446	17	0.034552845528455285	2	0.0055248618784530384	4	0.006993006993006993	2	0.002638522427440633	N	1.367	-0.587102	0.03827	0.026782	1.16E-4	ENSG00000169876	ENST00000306151	T	0.03065	4.06	0.656	0.656	0.17844	.	.	.	.	.	T	0.00440	0.0014	N	0.01576	-0.805	0.09310	N	1	P	0.38110	0.618	B	0.37650	0.255	T	0.31223	-0.9951	9	0.05525	T	0.97	.	3.8624	0.09002	0.0:0.4693:0.0:0.5306	.	3241	Q685J3	MUC17_HUMAN	T	3241	ENSP00000302716:I3241T	ENSP00000302716:I3241T	I	+	2	0	MUC17	100471139	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.041000	0.13927	-0.126000	0.11682	-1.386000	0.01163	ATC	MUC17	-	NULL	ENSG00000169876		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	69	0	T	NM_001040105		100684419	1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	11.49	77	10	SNP	0.005	C	C	100684419	T	C	100684419	3	2	14	1	0	0	0	0	1	0	0	0	10012	1435	50	4	9732	4	MUC17	7	100684419	Missense_Mutation	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	13	100684419	58454244	120	4352			1	4		5	3	499	N	T_GT_G	8.839582e-06
NAPEPLD	222236	genome.wustl.edu	37	chr7	102760461	102760461	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agttcacttattgtgcacggGgaacgacgaaatcgctttgg	10	11	12	8	4	1	0	1	0	0	0	2	3	1	1	0	3	2	3	0	3	3	4	rs145880545		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:102760461G>T	ENST00000417955.1	-	3	658	c.504C>A	c.(502-504)tcC>tcA	p.S168S	NAPEPLD_ENST00000341533.4_Silent_p.S168S|NAPEPLD_ENST00000455523.2_Silent_p.S241S|NAPEPLD_ENST00000465647.1_Silent_p.S168S|NAPEPLD_ENST00000427257.1_Silent_p.S168S			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	168					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.S168S(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTGTGCACGGGGAACGACGAA	0.463																																																	1	Substitution - coding silent(1)	skin(1)											211	185	194					7																	102760461		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.504C>A	7.37:g.102760461G>T			Q5CZ87|Q769K1	Silent	SNP	NULL	p.S241	ENST00000417955.1	37	c.723	CCDS5729.1	7																																																																																			NAPEPLD	-	NULL	ENSG00000161048		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	HGNC	protein_coding	OTTHUMT00000347904.1		0	40	0	G	NM_198990		102760461	-1			no_errors	ENST00000455523	ensembl	human	known	74_37	silent	7.14	38	3	SNP	0.101	T	T	102760461	G	T	102760461	2	4	14	1	0	0	0	0	0	0	0	1	10201	1219	43	3		3	NAPEPLD	7	102760461	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2076042	102760461	56378202	121	4353											
RELN	5649	genome.wustl.edu	37	chr7	103234836	103234836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaatgatgatgtcatCgactgcccactggtcatagt	11	10	11	9	1	2	3	2	2	0	1	3	5	2	4	1	2	1	0	1	2	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:103234836C>A	ENST00000428762.1	-	26	3802	c.3643G>T	c.(3643-3645)Gat>Tat	p.D1215Y	RELN_ENST00000343529.5_Missense_Mutation_p.D1215Y|RELN_ENST00000424685.2_Missense_Mutation_p.D1215Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1215					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGATGTCATCGACTGCCCAC	0.517																																					NSCLC(146;835 1944 15585 22231 52158)												0													261	250	254					7																	103234836		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3643G>T	7.37:g.103234836C>A	ENSP00000392423:p.Asp1215Tyr		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D1215Y	ENST00000428762.1	37	c.3643	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449401	0.84101	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.39592	1.07;1.07;1.07	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68439	0.3001	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.70806	-0.4772	10	0.87932	D	0	.	19.9347	0.97133	0.0:1.0:0.0:0.0	.	1215;1215	P78509-2;P78509	.;RELN_HUMAN	Y	1215	ENSP00000392423:D1215Y;ENSP00000345694:D1215Y;ENSP00000388446:D1215Y	ENSP00000345694:D1215Y	D	-	1	0	RELN	103022072	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	7.267000	0.78462	2.707000	0.92482	0.591000	0.81541	GAT	RELN	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000189056		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1		0	22	0	C	NM_005045		103234836	-1			no_errors	ENST00000424685	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	103234836	C	A	103234836	3	1	14	1	0	0	0	0	1	0	0	0	13265	884	31	2	6899	2	RELN	7	103234836	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	474375	103234836	55903827	122	4354											
MLL5	55904	genome.wustl.edu	37	chr7	104717408	104717408	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagctcagtttatgattttAgggttcagctccagagattg	11	14	10	6	0	2	2	2	1	0	1	3	3	3	2	1	1	2	4	1	1	3	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:104717408A>T	ENST00000311117.3	+	10	1313		c.e10-1		KMT2E_ENST00000334914.7_Splice_Site|KMT2E_ENST00000257745.4_Splice_Site|KMT2E_ENST00000476671.1_Splice_Site|KMT2E_ENST00000334877.4_Splice_Site	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTATGATTTTAGGGTTCAGCT	0.408																																																	0													75	73	74					7																	104717408		2203	4300	6503	SO:0001630	splice_region_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.769-1A>T	7.37:g.104717408A>T			B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Splice_Site	SNP	-	e8-2	ENST00000311117.3	37	c.769-2	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243240	0.79912	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL5	104504644	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	8.654000	0.91092	2.326000	0.78906	0.533000	0.62120	.	KMT2E	-	-	ENSG00000005483		0.408	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1		0	18	0	A		Intron	104717408	1			no_errors	ENST00000257745	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	1.000	T	T	104717408	A	T	104717408	5	4	14	1	0	0	0	0	0	0	1	0	9662	434	15	5	797	5	MLL5	7	104717408	Splice_Site	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	1482572	104717408	54421255	123	4355											
SMO	6608	genome.wustl.edu	37	chr7	128850838	128850838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgacgatgagccaaagcGgatcaagaagagcaagatga	17	4	14	6	2	1	6	1	3	0	3	1	9	1	7	1	1	3	1	1	1	4	0	rs121918348		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:128850838G>T	ENST00000249373.3	+	10	1965	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	562	Interaction with BBS5 and BBS7.		R -> Q (in basal cell carcinoma samples; somatic mutation). {ECO:0000269|PubMed:9422511}.		adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R562Q(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GAGCCAAAGCGGATCAAGAAG	0.557			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	1	Substitution - Missense(1)	skin(1)											133	105	115					7																	128850838		2203	4300	6503	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1685G>T	7.37:g.128850838G>T	ENSP00000249373:p.Arg562Leu	1568	A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R562L	ENST00000249373.3	37	c.1685	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.930021	0.97116	.	.	ENSG00000128602	ENST00000249373	T	0.80033	-1.33	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.76071	0.987;0.987	D	0.88969	0.3399	10	0.72032	D	0.01	.	19.0419	0.93004	0.0:0.0:1.0:0.0	.	562;562	A4D1K5;Q99835	.;SMO_HUMAN	L	562	ENSP00000249373:R562L	ENSP00000249373:R562L	R	+	2	0	SMO	128638074	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.605000	0.82844	2.758000	0.94735	0.561000	0.74099	CGG	SMO	-	NULL	ENSG00000128602		0.557	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1		0	12	0	G	NM_005631		128850838	1			no_errors	ENST00000249373	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	128850838	G	T	128850838	3	4	14	1	0	0	0	0	1	0	0	0	14845	1116	39	2	1723	2	SMO	7	128850838	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	24133430	128850838	30287825	124	4356											
KLHDC10	23008	genome.wustl.edu	37	chr7	129756388	129756388	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattatgatgaatcgggaggGcctgataatgaagactatcc	13	10	12	6	1	0	5	0	4	0	1	2	7	1	6	2	2	0	0	2	2	5	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:129756388G>T	ENST00000335420.5	+	3	491	c.357G>T	c.(355-357)ggG>ggT	p.G119G	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	119						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						AATCGGGAGGGCCTGATAATG	0.488																																																	0													151	132	139					7																	129756388		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.357G>T	7.37:g.129756388G>T			Q86Y99|Q92554	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	p.G119	ENST00000335420.5	37	c.357	CCDS5815.1	7																																																																																			KLHDC10	-	pfam_Kelch_1	ENSG00000128607		0.488	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC10	HGNC	protein_coding	OTTHUMT00000349347.2	-	0	51	0	G			129756388	1	tier1	-	no_errors	ENST00000335420	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	129756388	G	T	129756388	2	4	14	1	0	0	0	0	0	0	0	1	8382	1190	42	3		3	KLHDC10	7	129756388	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	905550	129756388	29382275	125	4357											
CPA5	93979	genome.wustl.edu	37	chr7	129986353	129986353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccctggaggcgggacGcgccctgggccatcccccgt	4	4	15	18	4	0	0	0	0	0	0	1	2	1	2	6	5	0	1	6	5	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:129986353G>A	ENST00000485477.1	+	2	1156	c.27G>A	c.(25-27)acG>acA	p.T9T	snoU13_ENST00000459205.1_RNA|CPA5_ENST00000466363.2_Silent_p.T9T|CPA5_ENST00000461828.1_Silent_p.T9T|CPA5_ENST00000393213.3_Silent_p.T9T|CPA5_ENST00000474905.1_Silent_p.T9T|CPA5_ENST00000431780.2_Silent_p.T9T|CPA5_ENST00000355388.3_Silent_p.T9T			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	9						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GAGGCGGGACGCGCCCTGGGC	0.627																																																	0													78	83	81					7																	129986353		2203	4300	6503	SO:0001819	synonymous_variant	0			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.27G>A	7.37:g.129986353G>A			G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.T9	ENST00000485477.1	37	c.27	CCDS5819.1	7																																																																																			CPA5	-	NULL	ENSG00000158525		0.627	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	-	0	16	0	G	NM_001127441		129986353	1	tier1	-	no_errors	ENST00000355388	ensembl	human	known	74_37	silent	34.29	23	12	SNP	0.000	A	A	129986353	G	A	129986353	2	1	14	1	0	0	0	0	0	0	0	1	3800	1074	38	1		1	CPA5	7	129986353	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	229965	129986353	29152310	126	4358											
SLC4A2	6522	genome.wustl.edu	37	chr7	150762016	150762016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcaccactgccccaccagGaggcgactcctcgggcctcc	6	5	10	20	2	0	0	0	0	0	0	3	2	2	1	7	3	2	1	7	3	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr7:150762016G>A	ENST00000485713.1	+	5	1581	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SLC4A2_ENST00000461735.1_Missense_Mutation_p.E167K|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E181K|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E99K|SLC4A2_ENST00000392826.2_Missense_Mutation_p.E172K	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	181	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCCACCAGGAGGCGACTCC	0.582																																																	0													60	65	64					7																	150762016		2203	4300	6503	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.541G>A	7.37:g.150762016G>A	ENSP00000419412:p.Glu181Lys		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.E181K	ENST00000485713.1	37	c.541	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130205	0.37630	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.87	5.33	4.4	0.53042	.	0.817918	0.10943	N	0.617067	T	0.76357	0.3976	L	0.50333	1.59	0.25867	N	0.983759	D;D;D	0.56287	0.975;0.975;0.958	P;P;P	0.58130	0.833;0.833;0.685	T	0.63047	-0.6724	10	0.08179	T	0.78	.	10.4854	0.44719	0.0:0.0:0.8067:0.1933	.	172;167;181	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	K	181;181;99;172;167	ENSP00000419412:E181K;ENSP00000405600:E181K;ENSP00000311402:E99K;ENSP00000376571:E172K;ENSP00000419164:E167K	ENSP00000311402:E99K	E	+	1	0	SLC4A2	150392949	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.149000	0.58091	2.479000	0.83701	0.655000	0.94253	GAG	SLC4A2	-	NULL	ENSG00000164889		0.582	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	-	0	51	0	G	NM_003040		150762016	1	tier1	-	no_errors	ENST00000413384	ensembl	human	known	74_37	missense	7.79	71	6	SNP	0.977	A	A	150762016	G	A	150762016	3	1	14	1	0	0	0	0	1	0	0	0	14699	1175	41	3	555	3	SLC4A2	7	150762016	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	20775663	150762016	8376647	127	4359											
UNC5D	137970	genome.wustl.edu	37	chr8	35624506	35624506	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttatacgcccactaccacCcagctgtcctgcaaaatctg	10	9	6	16	2	1	0	0	0	1	0	2	0	2	0	4	0	4	3	4	0	5	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr8:35624506C>A	ENST00000404895.2	+	15	2728	c.2400C>A	c.(2398-2400)acC>acA	p.T800T	UNC5D_ENST00000287272.2_Silent_p.T731T|UNC5D_ENST00000420357.1_Silent_p.T733T|UNC5D_ENST00000449677.1_Silent_p.T376T|UNC5D_ENST00000416672.1_Silent_p.T805T|UNC5D_ENST00000453357.2_Silent_p.T795T	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	800					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T795T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCACTACCACCCAGCTGTCCT	0.572																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											119	100	106					8																	35624506		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2400C>A	8.37:g.35624506C>A			Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.T800	ENST00000404895.2	37	c.2400	CCDS6093.2	8																																																																																			UNC5D	-	NULL	ENSG00000156687		0.572	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	25	0	C			35624506	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	silent	33.96	35	18	SNP	1.000	A	A	35624506	C	A	35624506	2	1	14	1	0	0	0	0	0	0	0	1	17044	610	22	3		3	UNC5D	8	35624506	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		35624506	110739516	128	4360											
ZFPM2	23414	genome.wustl.edu	37	chr8	106815683	106815683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatattgccggctatgtGatatccagttcaacaacctt	12	12	8	9	1	1	1	1	1	0	0	2	2	2	2	3	2	3	2	3	2	6	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr8:106815683G>T	ENST00000407775.2	+	8	3623	c.3373G>T	c.(3373-3375)Gat>Tat	p.D1125Y	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.D993Y|ZFPM2_ENST00000520492.1_Missense_Mutation_p.D993Y|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.D856Y|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1125					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1125H(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCGGCTATGTGATATCCAGTT	0.413																																																	1	Substitution - Missense(1)	endometrium(1)											40	39	40					8																	106815683		1881	4106	5987	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3373G>T	8.37:g.106815683G>T	ENSP00000384179:p.Asp1125Tyr		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1125Y	ENST00000407775.2	37	c.3373	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268908	0.59540	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.81	5.81	0.92471	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60454	-0.7260	10	0.72032	D	0.01	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	1125	Q8WW38	FOG2_HUMAN	Y	1125;993;993;856	ENSP00000384179:D1125Y;ENSP00000430757:D993Y;ENSP00000428720:D993Y;ENSP00000367733:D856Y	ENSP00000367733:D856Y	D	+	1	0	ZFPM2	106884859	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.755000	0.94549	0.650000	0.86243	GAT	ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.413	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1		0	20	0	G			106815683	1			no_errors	ENST00000407775	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	106815683	G	T	106815683	3	4	14	1	0	0	0	0	1	0	0	0	17706	1290	45	3	3403	3	ZFPM2	8	106815683	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	71191177	106815683	39548339	129	4361											
SNAPC3	6619	genome.wustl.edu	37	chr9	15451373	15451373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattttataatgataaaaGatacccagaatgcagagatt	19	11	6	5	0	0	4	0	1	0	3	0	5	0	4	1	0	3	1	1	0	7	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:15451373G>T	ENST00000380821.3	+	6	964	c.788G>T	c.(787-789)aGa>aTa	p.R263I	SNAPC3_ENST00000380799.1_Missense_Mutation_p.R60I	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	263					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		AATGATAAAAGATACCCAGAA	0.308																																																	0													54	56	55					9																	15451373		2202	4296	6498	SO:0001583	missense	0			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"small nuclear RNA activating complex, polypeptide 3, 50kD"			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.788G>T	9.37:g.15451373G>T	ENSP00000370200:p.Arg263Ile		D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	pfam_snRNA-activating_su3	p.R263I	ENST00000380821.3	37	c.788	CCDS6478.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629716	0.87660	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000421710;ENST00000380799	T;T;T	0.57907	0.37;0.37;0.37	5.27	4.34	0.51931	.	0.049180	0.85682	D	0.000000	T	0.76572	0.4006	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.82250	-0.0550	10	0.87932	D	0	-16.4162	14.946	0.71032	0.0:0.0:0.8566:0.1434	.	263	Q92966	SNPC3_HUMAN	I	263;213;213;60	ENSP00000370200:R263I;ENSP00000391832:R213I;ENSP00000370177:R60I	ENSP00000370177:R60I	R	+	2	0	SNAPC3	15441373	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.323000	0.79105	2.476000	0.83614	0.462000	0.41574	AGA	SNAPC3	-	pfam_snRNA-activating_su3	ENSG00000164975		0.308	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC3	HGNC	protein_coding	OTTHUMT00000051763.2		0	21	0	G	NM_001039697		15451373	1			no_errors	ENST00000380821	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	15451373	G	T	15451373	3	4	14	1	0	0	0	0	1	0	0	0	14881	942	33	3	810	3	SNAPC3	9	15451373	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		15451373	125762058	130	4362											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18680353	18680353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgctcctcctcgtgtgggGggggcatccagagccgggca	4	7	17	13	3	0	1	0	0	0	1	4	1	3	1	4	5	2	3	4	5	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:18680353G>A	ENST00000380548.4	+	11	1519	c.1180G>A	c.(1180-1182)Ggg>Agg	p.G394R	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G394R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G377R|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G394R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	394	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTCGTGTGGGGGGGGCATCCA	0.592																																																	0													54	50	51					9																	18680353		2203	4300	6503	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1180G>A	9.37:g.18680353G>A	ENSP00000369921:p.Gly394Arg		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.G394R	ENST00000380548.4	37	c.1180	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.364107	0.95877	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	6.17	6.17	0.99709	.	.	.	.	.	T	0.68430	0.3000	L	0.58354	1.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.986	T	0.67130	-0.5748	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	394;377	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	R	394;394;377;394	ENSP00000369921:G394R;ENSP00000327887:G394R;ENSP00000369940:G377R;ENSP00000276935:G394R	ENSP00000276935:G394R	G	+	1	0	ADAMTSL1	18670353	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	GGG	ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.592	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	27	0	G			18680353	1	tier1	-	no_errors	ENST00000327883	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	A	A	18680353	G	A	18680353	3	1	14	1	0	0	0	0	1	0	0	0	274	1232	43	3	1222	3	ADAMTSL1	9	18680353	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	3228980	18680353	122533078	131	4363											
GLIPR2	152007	genome.wustl.edu	37	chr9	36147790	36147790	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaatcattccagcttccaaAcagtttcataatgaggtcct	12	12	6	11	0	2	1	2	1	0	0	5	1	5	1	3	1	2	3	3	1	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:36147790A>T	ENST00000377960.4	+	2	55	c.21A>T	c.(19-21)aaA>aaT	p.K7N	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.K7N	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	7					positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CAGCTTCCAAACAGTTTCATA	0.498																																																	0													237	241	239					9																	36147790		2203	4300	6503	SO:0001583	missense	0			AY039756	CCDS6598.1, CCDS69595.1, CCDS75832.1, CCDS75833.1	9p13.3	2008-08-15	2008-08-15	2008-08-15	ENSG00000122694	ENSG00000122694			18007	protein-coding gene	gene with protein product		607141	"chromosome 9 open reading frame 19"	C9orf19		12137952, 11865038	Standard	NM_022343		Approved	GAPR-1	uc003zyz.3	Q9H4G4	OTTHUMG00000019900	ENST00000377960.4:c.21A>T	9.37:g.36147790A>T	ENSP00000367196:p.Lys7Asn		Q5VZR1|Q8N2S6|Q8WWC9|Q8WX36	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.K7N	ENST00000377960.4	37	c.21	CCDS6598.1	9	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342663	0.61073	.	.	ENSG00000122694	ENST00000377959;ENST00000377960	T;T	0.46063	0.88;2.5	5.25	1.98	0.26296	CAP domain (2);	0.138816	0.64402	D	0.000004	T	0.47967	0.1474	L	0.46614	1.455	0.80722	D	1	D;D;D;B	0.67145	0.995;0.996;0.996;0.027	P;D;D;B	0.66196	0.729;0.942;0.942;0.012	T	0.30179	-0.9987	10	0.33141	T	0.24	-9.5954	6.4641	0.21971	0.3762:0.0:0.6238:0.0	.	7;204;7;7	B4DQC5;D3DRP5;Q9H4G4;Q5VZR0	.;.;GAPR1_HUMAN;.	N	7	ENSP00000367195:K7N;ENSP00000367196:K7N	ENSP00000367195:K7N	K	+	3	2	GLIPR2	36137790	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	0.941000	0.29005	0.089000	0.17243	-0.379000	0.06801	AAA	GLIPR2	-	superfamily_CAP_domain	ENSG00000122694		0.498	GLIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR2	HGNC	protein_coding	OTTHUMT00000052414.1	-	0	22	0	A	NM_022343		36147790	1	tier1	-	no_errors	ENST00000377960	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T	T	36147790	A	T	36147790	3	4	14	1	0	0	0	0	1	0	0	0	6470	40	2	5	27	5	GLIPR2	9	36147790	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	17467437	36147790	105065641	132	4364											
VPS13A	23230	genome.wustl.edu	37	chr9	79972696	79972696	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttccagcattaaaagTggaatataacacatctgcac	15	12	5	9	0	2	0	0	0	2	0	3	1	3	1	1	1	3	2	1	1	6	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:79972696T>G	ENST00000360280.3	+	56	8155	c.7895T>G	c.(7894-7896)gTg>gGg	p.V2632G	VPS13A_ENST00000357409.5_Missense_Mutation_p.V2632G|VPS13A_ENST00000376634.4_Missense_Mutation_p.V2632G|VPS13A_ENST00000376636.3_Missense_Mutation_p.V2593G	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2632					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCATTAAAAGTGGAATATAAC	0.343																																																	0													64	69	67					9																	79972696		2203	4300	6503	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.7895T>G	9.37:g.79972696T>G	ENSP00000353422:p.Val2632Gly		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.V2632G	ENST00000360280.3	37	c.7895	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016926	0.75161	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.99	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.76494	0.981;0.999;0.991;0.991	D;D;P;P	0.67103	0.937;0.949;0.903;0.903	D	0.88483	0.3070	9	.	.	.	.	12.6709	0.56866	0.1232:0.0:0.0:0.8768	.	2593;2632;2632;2632	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	G	2632;2593;2632;2632	ENSP00000365821:V2632G;ENSP00000365823:V2593G;ENSP00000353422:V2632G;ENSP00000349985:V2632G	.	V	+	2	0	VPS13A	79162516	1.000000	0.71417	0.986000	0.45419	0.850000	0.48378	5.413000	0.66399	2.291000	0.77112	0.533000	0.62120	GTG	VPS13A	-	NULL	ENSG00000197969		0.343	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0	59	0	T	NM_015186		79972696	1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	22.22	63	18	SNP	0.998	G	G	79972696	T	G	79972696	3	3	14	1	0	0	0	0	1	0	0	0	17238	1696	59	4	8117	4	VPS13A	9	79972696	Missense_Mutation	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	43824906	79972696	61240735	133	4365											
SEMA4D	10507	genome.wustl.edu	37	chr9	92006182	92006182	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcctggcactcaccttGcacactcttgctatccgtgg	6	11	10	14	1	2	0	1	0	1	0	3	1	3	0	3	2	3	3	3	2	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:92006182G>T	ENST00000450295.1	-	9	1547	c.771C>A	c.(769-771)tgC>tgA	p.C257*	SEMA4D_ENST00000420987.1_Nonsense_Mutation_p.C257*|SEMA4D_ENST00000356444.2_Nonsense_Mutation_p.C257*|SEMA4D_ENST00000455551.2_Nonsense_Mutation_p.C257*|SEMA4D_ENST00000422704.2_Nonsense_Mutation_p.C257*|SEMA4D_ENST00000343780.4_Nonsense_Mutation_p.C257*|SEMA4D_ENST00000339861.4_Nonsense_Mutation_p.C257*|SEMA4D_ENST00000438547.2_Nonsense_Mutation_p.C257*			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	257	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CACTCACCTTGCACACTCTTG	0.552																																																	0													167	119	136					9																	92006182		2203	4300	6503	SO:0001587	stop_gained	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.771C>A	9.37:g.92006182G>T	ENSP00000416523:p.Cys257*		B2RPM6|Q7Z5S4|Q8N8B0	Nonsense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.C257*	ENST00000450295.1	37	c.771	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	G	43	10.075238	0.99331	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	.	.	.	5.16	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2967	0.43629	0.0731:0.1372:0.7897:0.0	.	.	.	.	X	257	.	ENSP00000344923:C257X	C	-	3	2	SEMA4D	91196002	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	2.374000	0.44274	1.406000	0.46857	0.555000	0.69702	TGC	SEMA4D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000187764		0.552	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1		0	20	0	G	NM_006378		92006182	-1			no_errors	ENST00000356444	ensembl	human	known	74_37	nonsense	9.68	28	3	SNP	1.000	T	T	92006182	G	T	92006182	4	4	14	1	0	0	0	0	0	1	0	0	14079	1311	46	3	2419	3	SEMA4D	9	92006182	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	12033486	92006182	49207249	134	4366											
ROR2	4920	genome.wustl.edu	37	chr9	94489026	94489026	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgctgtctcggggacCtgtgaacaataaggctttcg	7	12	12	10	2	1	1	0	1	1	0	3	2	1	2	1	3	3	3	1	3	3	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:94489026C>T	ENST00000375708.3	-	8	1382		c.e8-1		ROR2_ENST00000375715.1_Splice_Site|ROR2_ENST00000550066.1_Splice_Site	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTCGGGGACCTGTGAACAAT	0.473																																																	0													79	71	74					9																	94489026		2203	4300	6503	SO:0001630	splice_region_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1184-1G>A	9.37:g.94489026C>T			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Splice_Site	SNP	-	e8-1	ENST00000375708.3	37	c.1184-1	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717860	0.48622	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1763	0.89762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROR2	93528847	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	5.486000	0.66856	2.529000	0.85273	0.561000	0.74099	.	ROR2	-	-	ENSG00000169071		0.473	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0	17	0	C		Intron	94489026	-1	tier1	-	no_errors	ENST00000375708	ensembl	human	known	74_37	splice_site	32.43	25	12	SNP	1.000	T	T	94489026	C	T	94489026	5	4	14	1	0	0	0	0	0	0	1	0	13572	695	24	3	1656	3	ROR2	9	94489026	Splice_Site	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	2482844	94489026	46724405	135	4367											
PHF19	26147	genome.wustl.edu	37	chr9	123632125	123632125	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatggaaggctcacccGcacagccagtgcgaagatgc	11	4	15	11	2	1	1	1	0	0	1	1	5	1	4	2	4	3	2	2	4	2	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:123632125G>T	ENST00000373896.3	-	5	715	c.463C>A	c.(463-465)Cgg>Agg	p.R155R	PHF19_ENST00000312189.6_Silent_p.R155R|PHF19_ENST00000487555.1_5'Flank|PHF19_ENST00000419155.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	155					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGCTCACCCGCACAGCCAGT	0.627																																																	0													57	47	50					9																	123632125		2202	4300	6502	SO:0001819	synonymous_variant	0			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.463C>A	9.37:g.123632125G>T			Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.R155	ENST00000373896.3	37	c.463	CCDS35116.1	9																																																																																			PHF19	-	superfamily_Znf_FYVE_PHD	ENSG00000119403		0.627	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	HGNC	protein_coding	OTTHUMT00000053838.3	-	0	41	0	G	XM_045308		123632125	-1	tier1	-	no_errors	ENST00000373896	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	123632125	G	T	123632125	2	4	14	1	0	0	0	0	0	0	0	1	11868	1086	38	2		2	PHF19	9	123632125	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	29143099	123632125	17581306	136	4368											
SURF6	6838	genome.wustl.edu	37	chr9	136198862	136198862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaccacgccggccgtgCgcttctcccaccggcgctgc	3	7	10	21	6	2	0	0	0	2	0	4	0	2	0	6	2	2	2	6	2	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:136198862C>A	ENST00000372022.4	-	5	1194	c.929G>T	c.(928-930)cGc>cTc	p.R310L	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	310					ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GCCGGCCGTGCGCTTCTCCCA	0.721																																																	0													21	21	21					9																	136198862		2202	4298	6500	SO:0001583	missense	0			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"surfeit locus protein 6"	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.929G>T	9.37:g.136198862C>A	ENSP00000361092:p.Arg310Leu		Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	Missense_Mutation	SNP	pfam_Surf6	p.R310L	ENST00000372022.4	37	c.929	CCDS6962.1	9	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631765	0.67015	.	.	ENSG00000148296	ENST00000372022	T	0.39406	1.08	5.15	4.24	0.50183	.	0.056727	0.64402	D	0.000003	T	0.66436	0.2789	M	0.86178	2.8	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.71692	-0.4516	10	0.62326	D	0.03	-3.3045	13.1496	0.59482	0.0:0.9206:0.0:0.0794	.	310	O75683	SURF6_HUMAN	L	310	ENSP00000361092:R310L	ENSP00000361092:R310L	R	-	2	0	SURF6	135188683	1.000000	0.71417	0.999000	0.59377	0.669000	0.39330	4.232000	0.58645	2.387000	0.81309	0.467000	0.42956	CGC	SURF6	-	pfam_Surf6	ENSG00000148296		0.721	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1		0	10	0	C	NM_006753		136198862	-1			no_errors	ENST00000372022	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.985	A	A	136198862	C	A	136198862	3	1	14	1	0	0	0	0	1	0	0	0	15453	768	27	2	160	2	SURF6	9	136198862	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	12566737	136198862	5014569	137	4369											
SURF2	6835	genome.wustl.edu	37	chr9	136226967	136226967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacatccagtgatgagggggGagctgcaagtgatgacagca	12	6	15	8	0	0	4	0	4	0	0	1	5	1	5	1	3	3	3	1	3	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr9:136226967G>T	ENST00000371964.4	+	4	520	c.479G>T	c.(478-480)gGa>gTa	p.G160V	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	160				G -> A (in Ref. 1; CAA84477). {ECO:0000305}.		nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		GATGAGGGGGGAGCTGCAAGT	0.632																																																	0													65	65	65					9																	136226967		2203	4300	6503	SO:0001583	missense	0				CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"surfeit locus protein 2"	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.479G>T	9.37:g.136226967G>T	ENSP00000361032:p.Gly160Val		Q6IBP9|Q96CD1	Missense_Mutation	SNP	pfam_Surf2	p.G160V	ENST00000371964.4	37	c.479	CCDS6967.1	9	.	.	.	.	.	.	.	.	.	.	G	11.86	1.766094	0.31228	.	.	ENSG00000148291	ENST00000371964	T	0.32515	1.45	4.56	1.51	0.23008	.	0.878022	0.09715	N	0.765255	T	0.32941	0.0846	L	0.54323	1.7	0.22096	N	0.999364	P	0.46327	0.876	P	0.44597	0.454	T	0.18713	-1.0328	10	0.72032	D	0.01	-7.0005	9.2281	0.37418	0.0914:0.378:0.5305:0.0	.	160	Q15527	SURF2_HUMAN	V	160	ENSP00000361032:G160V	ENSP00000361032:G160V	G	+	2	0	SURF2	135216788	0.002000	0.14202	0.001000	0.08648	0.269000	0.26545	0.316000	0.19469	0.189000	0.20188	0.462000	0.41574	GGA	SURF2	-	pfam_Surf2	ENSG00000148291		0.632	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF2	HGNC	protein_coding	OTTHUMT00000054883.1		0	34	0	G	NM_017503		136226967	1			no_errors	ENST00000371964	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.007	T	T	136226967	G	T	136226967	3	4	14	1	0	0	0	0	1	0	0	0	15451	1174	41	3	493	3	SURF2	9	136226967	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	28105	136226967	4986464	138	4370											
MYO3A	53904	genome.wustl.edu	37	chr10	26443690	26443690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagggcgacactggagaaGccacacgtcatgccagagag	12	5	13	11	2	1	2	1	0	0	2	1	5	1	2	2	2	2	0	2	2	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:26443690G>T	ENST00000265944.5	+	25	2897	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	911	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CACTGGAGAAGCCACACGTCA	0.423																																																	0													112	110	111					10																	26443690		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2731G>T	10.37:g.26443690G>T	ENSP00000265944:p.Ala911Ser		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.A911S	ENST00000265944.5	37	c.2731	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	0.296	-0.977104	0.02197	.	.	ENSG00000095777	ENST00000265944	T	0.77229	-1.08	5.56	0.452	0.16634	Myosin head, motor domain (2);	0.595363	0.19068	N	0.123569	T	0.40145	0.1105	N	0.01109	-1.01	0.09310	N	1	B	0.12013	0.005	B	0.19666	0.026	T	0.41052	-0.9530	10	0.07813	T	0.8	.	4.6714	0.12691	0.2621:0.0:0.3898:0.348	.	911	Q8NEV4	MYO3A_HUMAN	S	911	ENSP00000265944:A911S	ENSP00000265944:A911S	A	+	1	0	MYO3A	26483696	0.000000	0.05858	0.179000	0.23059	0.053000	0.15095	0.239000	0.18023	0.279000	0.22186	0.650000	0.86243	GCC	MYO3A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000095777		0.423	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1		0	46	0	G	NM_017433		26443690	1			no_errors	ENST00000265944	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.002	T	T	26443690	G	T	26443690	3	4	14	1	0	0	0	0	1	0	0	0	10114	971	34	3	2821	3	MYO3A	10	26443690	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		26443690	109091057	139	4371											
SLC18A3	6572	genome.wustl.edu	37	chr10	50818987	50818987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcccacatgcgcgggggCggcgagggccccacccggac	6	2	16	17	6	0	0	0	0	0	0	1	2	0	1	4	5	1	0	4	5	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:50818987C>T	ENST00000374115.3	+	1	641	c.201C>T	c.(199-201)ggC>ggT	p.G67G	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	67					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGCGCGGGGGCGGCGAGGGCC	0.667																																																	0													34	28	30					10																	50818987		2202	4299	6501	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.201C>T	10.37:g.50818987C>T			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G67	ENST00000374115.3	37	c.201	CCDS7231.1	10																																																																																			SLC18A3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0	18	0	C	NM_003055		50818987	1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	silent	39.29	17	11	SNP	0.907	T	T	50818987	C	T	50818987	2	4	14	1	0	0	0	0	0	0	0	1	14472	755	27	1		1	SLC18A3	10	50818987	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	24375297	50818987	84715760	140	4372											
CDH23	64072	genome.wustl.edu	37	chr10	73553088	73553088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaatgccaccatcgacagaGaggagcaggagtcctacagg	13	5	13	10	1	0	1	0	0	0	1	2	5	1	3	3	3	3	2	3	3	2	2	rs55947063		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:73553088G>A	ENST00000224721.6	+	47	6423	c.6418G>A	c.(6418-6420)Gag>Aag	p.E2140K	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2135	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGACAGAGAGGAGCAGGA	0.582																																																	0													68	74	72					10																	73553088		2094	4229	6323	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6418G>A	10.37:g.73553088G>A	ENSP00000224721:p.Glu2140Lys		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E2140K	ENST00000224721.6	37	c.6418		10	.	.	.	.	.	.	.	.	.	.	G	36	5.722752	0.96847	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.32	5.32	0.75619	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87132	0.6101	H	0.94620	3.56	0.80722	D	1	D	0.59357	0.985	D	0.71656	0.974	D	0.90385	0.4391	9	0.66056	D	0.02	.	19.0063	0.92852	0.0:0.0:1.0:0.0	.	2135	Q9H251	CAD23_HUMAN	K	2140;2135;2138	.	ENSP00000224721:E2140K	E	+	1	0	CDH23	73223094	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.827000	0.99397	2.484000	0.83849	0.650000	0.86243	GAG	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0	39	0	G	NM_052836		73553088	1	tier1	-	no_errors	ENST00000224721	ensembl	human	putative	74_37	missense	13.79	25	4	SNP	1.000	A	A	73553088	G	A	73553088	3	1	14	1	0	0	0	0	1	0	0	0	3115	943	33	3	6934	3	CDH23	10	73553088	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	22734101	73553088	61981659	141	4373											
AGAP5	729092	genome.wustl.edu	37	chr10	75435611	75435611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtcagcatgattctcCggggctttcctctctttgtc	4	16	10	11	1	3	1	1	1	2	0	7	1	4	1	2	3	1	2	2	3	0	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:75435611C>T	ENST00000374094.4	-	8	847	c.807G>A	c.(805-807)ccG>ccA	p.P269P	AGAP5_ENST00000443782.2_Silent_p.P246P|RP11-464F9.1_ENST00000399449.3_RNA|RP11-464F9.21_ENST00000607450.1_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	269					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P246P(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						CATGATTCTCCGGGGCTTTCC	0.537																																																	2	Substitution - coding silent(2)	lung(2)											3	4	4					10																	75435611		86	574	660	SO:0001819	synonymous_variant	0				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	23467	protein-coding gene	gene with protein product			"centaurin, gamma-like family, member 2"	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.807G>A	10.37:g.75435611C>T			A8MSN5	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.P269	ENST00000374094.4	37	c.807	CCDS44439.1	10																																																																																			AGAP5	-	NULL	ENSG00000172650		0.537	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGAP5	HGNC	protein_coding		-	0	187	0	C	XM_001132585		75435611	-1	tier1	-	no_errors	ENST00000374094	ensembl	human	known	74_37	silent	40.62	209	143	SNP	1.000	T	T	75435611	C	T	75435611	2	4	14	1	0	0	0	0	0	0	0	1	371	639	23	1		1	AGAP5	10	75435611	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1882523	75435611	60099136	142	4374											
ZMIZ1	57178	genome.wustl.edu	37	chr10	81050766	81050766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccatgaatccaggcggCaaccccatggcgtcgggcat	10	5	11	15	3	0	1	0	1	0	0	2	1	1	1	5	4	2	2	5	4	3	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:81050766C>T	ENST00000334512.5	+	10	1163	c.591C>T	c.(589-591)ggC>ggT	p.G197G	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	197					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATCCAGGCGGCAACCCCATGG	0.622																																																	0													120	101	107					10																	81050766		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.591C>T	10.37:g.81050766C>T			Q5JSH9|Q7Z7E6	Silent	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.G197	ENST00000334512.5	37	c.591	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433177	0.25813	.	.	ENSG00000108175	ENST00000372347	.	.	.	5.67	2.57	0.30868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-11.2641	6.8291	0.23900	0.2088:0.6225:0.0:0.1687	.	.	.	.	X	129	.	ENSP00000361422:Q129X	Q	+	1	0	ZMIZ1	80720772	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.702000	0.25631	0.764000	0.33197	-0.136000	0.14681	CAA	ZMIZ1	-	NULL	ENSG00000108175		0.622	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	-	0	34	0	C	NM_020338		81050766	1	tier1	-	no_errors	ENST00000334512	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.998	T	T	81050766	C	T	81050766	2	4	14	1	0	0	0	0	0	0	0	1	17744	697	25	3		3	ZMIZ1	10	81050766	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	5615155	81050766	54483981	143	4375											
ZDHHC16	84287	genome.wustl.edu	37	chr10	99211481	99211481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggcccgcctctgcctcCgcctccttctgctgctgggt	0	10	11	20	3	2	0	0	0	2	0	4	0	4	0	7	2	3	2	7	2	0	1	rs376949987		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:99211481C>T	ENST00000370854.3	+	2	238	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	ZDHHC16_ENST00000353979.3_Missense_Mutation_p.R17C|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R17C|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R17C|ZDHHC16_ENST00000370846.4_Missense_Mutation_p.R17C|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R17C|ZDHHC16_ENST00000393760.1_Missense_Mutation_p.R17C	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	17					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		CCTCTGCCTCCGCCTCCTTCT	0.667																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	29	33	32		49,49,49,49,49	5.6	1	10		32	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	ZDHHC16	NM_032327.2,NM_198043.1,NM_198044.1,NM_198045.1,NM_198046.1	180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	17/378,17/362,17/339,17/297,17/378	99211481	1,13005	2203	4300	6503	SO:0001583	missense	0			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.49C>T	10.37:g.99211481C>T	ENSP00000359891:p.Arg17Cys		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R17C	ENST00000370854.3	37	c.49	CCDS7460.1	10	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851753	0.71719	0.0	1.16E-4	ENSG00000171307	ENST00000370854;ENST00000393760;ENST00000414567;ENST00000370846;ENST00000352634;ENST00000353979;ENST00000370842;ENST00000345745;ENST00000433086	T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.59	5.59	0.84812	.	0.052524	0.64402	D	0.000001	T	0.38054	0.1026	L	0.42245	1.32	0.50632	D	0.999889	P;D;D;D;D;D;P	0.89917	0.946;0.992;1.0;0.968;0.995;0.968;0.946	B;P;D;B;P;B;B	0.71184	0.18;0.513;0.972;0.335;0.707;0.335;0.249	T	0.06716	-1.0811	10	0.87932	D	0	.	14.3222	0.66493	0.1846:0.8154:0.0:0.0	.	17;17;17;17;17;17;17	B4DNL2;E9PCL9;B1AMU0;Q969W1-3;Q969W1-4;Q969W1-2;Q969W1	.;.;.;.;.;.;ZDH16_HUMAN	C	17	ENSP00000359891:R17C;ENSP00000377357:R17C;ENSP00000400719:R17C;ENSP00000359883:R17C;ENSP00000345383:R17C;ENSP00000323360:R17C;ENSP00000359879:R17C;ENSP00000304487:R17C;ENSP00000398532:R17C	ENSP00000304487:R17C	R	+	1	0	ZDHHC16	99201471	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.147000	0.42226	2.641000	0.89580	0.561000	0.74099	CGC	ZDHHC16	-	NULL	ENSG00000171307		0.667	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2	-	0	16	0	C	NM_032327		99211481	1	tier1	-	no_errors	ENST00000370854	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	T	T	99211481	C	T	99211481	3	4	14	1	0	0	0	0	1	0	0	0	17654	652	23	1	51	1	ZDHHC16	10	99211481	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	18160715	99211481	36323266	144	4376											
LOXL4	84171	genome.wustl.edu	37	chr10	100020863	100020863	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggatgggcttgagccGcacctcctccagccgccggc	6	5	14	16	3	0	1	0	1	0	0	2	2	2	2	6	4	2	3	6	4	1	1	rs201595099		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:100020863G>T	ENST00000260702.3	-	4	628	c.478C>A	c.(478-480)Cgg>Agg	p.R160R		NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	160	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCTTGAGCCGCACCTCCTCC	0.652																																																	0													61	50	54					10																	100020863		2203	4300	6503	SO:0001819	synonymous_variant	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.478C>A	10.37:g.100020863G>T			Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.R160	ENST00000260702.3	37	c.478	CCDS7473.1	10																																																																																			LOXL4	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000138131		0.652	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	-	0	41	0	G	NM_032211		100020863	-1	tier1	-	no_errors	ENST00000260702	ensembl	human	known	74_37	silent	18.18	36	8	SNP	1.000	T	T	100020863	G	T	100020863	2	4	14	1	0	0	0	0	0	0	0	1	8937	1086	38	2		2	LOXL4	10	100020863	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	809382	100020863	35513884	145	4377											
HPSE2	60495	genome.wustl.edu	37	chr10	100219489	100219489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagggctggccattcagttGcactgacctacagtgaggaa	11	9	12	9	0	1	2	1	2	0	0	1	3	1	3	2	3	2	3	2	3	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:100219489G>T	ENST00000370552.3	-	12	1680	c.1621C>A	c.(1621-1623)Caa>Aaa	p.Q541K	HPSE2_ENST00000370546.1_3'UTR|HPSE2_ENST00000404542.1_Missense_Mutation_p.Q429K|HPSE2_ENST00000370549.1_Missense_Mutation_p.Q483K	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	541					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCATTCAGTTGCACTGACCTA	0.562																																																	0													40	34	36					10																	100219489		2203	4300	6503	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1621C>A	10.37:g.100219489G>T	ENSP00000359583:p.Gln541Lys		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.Q541K	ENST00000370552.3	37	c.1621	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191797	0.58017	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000404542	D;D;D	0.82711	-1.64;-1.64;-1.64	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.86397	0.5923	L	0.37630	1.12	0.80722	D	1	P;P;P	0.52577	0.954;0.954;0.924	D;D;P	0.67900	0.954;0.954;0.9	T	0.81616	-0.0852	10	0.15066	T	0.55	-9.1916	19.4309	0.94765	0.0:0.0:1.0:0.0	.	429;483;541	Q8WWQ2-4;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	K	541;483;429	ENSP00000359583:Q541K;ENSP00000359580:Q483K;ENSP00000384384:Q429K	ENSP00000359580:Q483K	Q	-	1	0	HPSE2	100209479	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.304000	0.96190	2.592000	0.87571	0.650000	0.86243	CAA	HPSE2	-	NULL	ENSG00000172987		0.562	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1		0	17	0	G	NM_021828		100219489	-1			no_errors	ENST00000370552	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	100219489	G	T	100219489	3	4	14	1	0	0	0	0	1	0	0	0	7372	1328	46	3	161	3	HPSE2	10	100219489	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	198626	100219489	35315258	146	4378											
TLX1	3195	genome.wustl.edu	37	chr10	102896595	102896595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcgtcgctcttcgccctGcagaatctgcagccgtggtc	6	10	10	15	4	2	1	0	0	2	1	6	1	2	1	2	1	4	3	2	1	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:102896595G>A	ENST00000370196.6	+	3	2960	c.918G>A	c.(916-918)ctG>ctA	p.L306L	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	306					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCTTCGCCCTGCAGAATCTGC	0.637			T	"TRB@, TRD@"	T-ALL																																			Dom	yes		10	10q24	3195	" T-cell leukemia, homeobox 1 (HOX11)"		L	0													87	73	78					10																	102896595		2203	4300	6503	SO:0001819	synonymous_variant	0			M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"Homeoboxes / ANTP class : NKL subclass"	5056	protein-coding gene	gene with protein product	"Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)", "homeo box 11 (T-cell lymphoma 3-associated breakpoint)"	186770	"homeo box 11 (T-cell lymphoma 3-associated breakpoint)", "T-cell leukemia, homeobox 1"	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.918G>A	10.37:g.102896595G>A			A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L306	ENST00000370196.6	37	c.918	CCDS7510.1	10																																																																																			TLX1	-	NULL	ENSG00000107807		0.637	TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLX1	HGNC	protein_coding	OTTHUMT00000051193.3	-	0	33	0	G	NM_005521		102896595	1	tier1	-	no_errors	ENST00000370196	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	A	A	102896595	G	A	102896595	2	1	14	1	0	0	0	0	0	0	0	1	16006	1306	46	3		3	TLX1	10	102896595	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2677106	102896595	32638152	147	4379											
PITX3	5309	genome.wustl.edu	37	chr10	103990330	103990330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctgccgggggcggccCgtgcacagcggggtagctga	4	6	20	11	4	0	1	0	1	0	0	0	1	0	1	2	6	4	5	2	6	1	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:103990330C>G	ENST00000370002.3	-	4	1003	c.850G>C	c.(850-852)Ggg>Cgg	p.G284R	PITX3_ENST00000539804.1_Missense_Mutation_p.G284R	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	284					dopaminergic neuron differentiation (GO:0071542)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|locomotory behavior (GO:0007626)|midbrain development (GO:0030901)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGGGCGGCCCGTGCACAGCG	0.677																																																	0													27	29	28					10																	103990330		2201	4299	6500	SO:0001583	missense	0				CCDS7532.1	10q24.32	2013-11-14	2007-07-12		ENSG00000107859	ENSG00000107859		"Homeoboxes / PRD class"	9006	protein-coding gene	gene with protein product		602669	"paired-like homeodomain transcription factor 3", "anterior segment mesenchymal dysgenesis"	ASMD		9620774	Standard	NM_005029		Approved		uc001kuu.1	O75364	OTTHUMG00000018952	ENST00000370002.3:c.850G>C	10.37:g.103990330C>G	ENSP00000359019:p.Gly284Arg		Q5VZL2	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.G284R	ENST00000370002.3	37	c.850	CCDS7532.1	10	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704043	0.48412	.	.	ENSG00000107859	ENST00000370002;ENST00000539804	D;D	0.88975	-2.45;-2.45	5.15	4.24	0.50183	.	0.253842	0.39274	N	0.001404	D	0.85531	0.5718	N	0.08118	0	0.30817	N	0.738175	D	0.76494	0.999	D	0.68192	0.956	T	0.82159	-0.0595	10	0.45353	T	0.12	.	8.6224	0.33868	0.0:0.8973:0.0:0.1027	.	284	O75364	PITX3_HUMAN	R	284	ENSP00000359019:G284R;ENSP00000439383:G284R	ENSP00000359019:G284R	G	-	1	0	PITX3	103980320	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.225000	0.32551	2.387000	0.81309	0.555000	0.69702	GGG	PITX3	-	pirsf_Homeobox_Pitx/unc30	ENSG00000107859		0.677	PITX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX3	HGNC	protein_coding	OTTHUMT00000050031.1	-	0	44	0	C			103990330	-1	tier1	-	no_errors	ENST00000370002	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G	G	103990330	C	G	103990330	3	3	14	1	0	0	0	0	1	0	0	0	11995	652	23	5	62	5	PITX3	10	103990330	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1093735	103990330	31544417	148	4380											
SORCS1	114815	genome.wustl.edu	37	chr10	108923969	108923969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctccgtctcctccggcCggagcgtgcagcaaccgcca	5	6	11	19	6	1	0	0	0	1	0	5	1	4	1	7	2	4	3	7	2	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:108923969C>T	ENST00000263054.6	-	1	323	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	SORCS1_ENST00000344440.6_Missense_Mutation_p.G106S	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	106					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCTCCGGCCGGAGCGTGCA	0.701																																																	0													18	19	19					10																	108923969		2199	4298	6497	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.316G>A	10.37:g.108923969C>T	ENSP00000263054:p.Gly106Ser		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G106S	ENST00000263054.6	37	c.316	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418159	0.25552	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.14144	2.53;2.55	4.45	-1.01	0.10169	.	0.678333	0.12335	N	0.477986	T	0.06005	0.0156	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.001;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.001	T	0.41161	-0.9524	9	.	.	.	-6.513	4.3046	0.10940	0.167:0.3215:0.0:0.5115	.	106;106;106;106;106	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	S	106	ENSP00000263054:G106S;ENSP00000345964:G106S	.	G	-	1	0	SORCS1	108913959	0.010000	0.17322	0.539000	0.28077	0.405000	0.30901	0.379000	0.20585	-0.073000	0.12842	-0.948000	0.02665	GGC	SORCS1	-	NULL	ENSG00000108018		0.701	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	9	0	C	NM_052918		108923969	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.002	T	T	108923969	C	T	108923969	3	4	14	1	0	0	0	0	1	0	0	0	14975	652	23	1	3528	1	SORCS1	10	108923969	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	4933639	108923969	26610778	149	4381											
ARMS2	387715	genome.wustl.edu	37	chr10	124214282	124214282	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgatggtaactgaggcGgaggggaaaggagggcctga	11	4	20	6	2	0	2	0	2	0	0	0	7	0	6	2	8	1	1	2	8	2	1	rs200123144		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr10:124214282G>T	ENST00000528446.1	+	1	114	c.39G>T	c.(37-39)gcG>gcT	p.A13A		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	13					retina homeostasis (GO:0001895)	mitochondrion (GO:0005739)|photoreceptor inner segment (GO:0001917)				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TAACTGAGGCGGAGGGGAAAG	0.572																																																	0													113	119	117					10																	124214282		2049	4193	6242	SO:0001819	synonymous_variant	0			BC066349	CCDS53585.1	10q26.13	2013-01-23			ENSG00000254636	ENSG00000254636			32685	protein-coding gene	gene with protein product		611313				16080115, 16174643	Standard	NM_001099667		Approved	LOC387715, ARMD8	uc001lgi.3	P0C7Q2	OTTHUMG00000048232	ENST00000528446.1:c.39G>T	10.37:g.124214282G>T			B2Y7I5	Silent	SNP	NULL	p.A13	ENST00000528446.1	37	c.39	CCDS53585.1	10																																																																																			ARMS2	-	NULL	ENSG00000254636		0.572	ARMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMS2	HGNC	protein_coding	OTTHUMT00000109727.2	-	0	44	0	G			124214282	1	tier1	-	no_errors	ENST00000528446	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.000	T	T	124214282	G	T	124214282	2	4	14	1	0	0	0	0	0	0	0	1	965	1103	39	2		2	ARMS2	10	124214282	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	15290313	124214282	11320465	150	4382											
MUC5B	727897	genome.wustl.edu	37	chr11	1256532	1256532	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtctctttctggcccaGgactactgtggggacaacac	7	11	11	12	0	2	0	0	0	2	0	3	2	2	2	1	4	2	1	1	4	2	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:1256532G>T	ENST00000529681.1	+	23	2827		c.e23-1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTCTGGCCCAGGACTACTGTG	0.662																																																	0													63	72	69					11																	1256532		2091	4201	6292	SO:0001630	splice_region_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2770-1G>T	11.37:g.1256532G>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Splice_Site	SNP	-	e23-1	ENST00000529681.1	37	c.2779-1	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647348	0.87958	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.143	0.86759	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MUC5B	1213108	1.000000	0.71417	0.993000	0.49108	0.899000	0.52679	9.384000	0.97219	2.265000	0.75225	0.549000	0.68633	.	MUC5B	-	-	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	58	0	G	XM_001126093	Intron	1256532	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	1.000	T	T	1256532	G	T	1256532	5	4	14	1	0	0	0	0	0	0	1	0	10017	1014	35	3	2868	3	MUC5B	11	1256532	Splice_Site	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		1256532	133749984	151	4383											
MUC5B	727897	genome.wustl.edu	37	chr11	1265962	1265962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaccacgggcttcacaGccaccccctcctccagccca	9	4	5	23	1	1	0	1	0	0	0	3	0	3	0	8	1	3	1	8	1	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:1265962G>T	ENST00000529681.1	+	31	7910	c.7852G>T	c.(7852-7854)Gcc>Tcc	p.A2618S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A2621S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2618	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGCTTCACAGCCACCCCCTC	0.647																																																	0													133	166	155					11																	1265962		2104	4227	6331	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7852G>T	11.37:g.1265962G>T	ENSP00000436812:p.Ala2618Ser		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A2621S	ENST00000529681.1	37	c.7861	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	4.804	0.149490	0.09185	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000537836	T;T	0.20463	2.07;2.26	2.4	-4.79	0.03200	.	.	.	.	.	T	0.16385	0.0394	M	0.61703	1.905	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.18263	0.014;0.021	T	0.35699	-0.9778	9	0.87932	D	0	.	1.7594	0.02989	0.2633:0.2486:0.3694:0.1187	.	3256;2621	A7Y9J9;E9PBJ0	.;.	S	2618;2621;2590;2633;159	ENSP00000436812:A2618S;ENSP00000415793:A2621S	ENSP00000343037:A2590S	A	+	1	0	MUC5B	1222538	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.952000	0.00677	-1.367000	0.02152	0.205000	0.17691	GCC	MUC5B	-	NULL	ENSG00000117983		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	119	0	G	XM_001126093		1265962	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	34.10	113	59	SNP	0.000	T	T	1265962	G	T	1265962	3	4	14	1	0	0	0	0	1	0	0	0	10017	971	34	3	7983	3	MUC5B	11	1265962	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	9430	1265962	133740554	152	4384											
TH	7054	genome.wustl.edu	37	chr11	2191949	2191949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggtgtaggatgcagctgGggctgcagttccaggccacg	6	7	19	9	1	0	0	0	0	0	0	1	1	1	1	2	6	3	6	2	6	1	2	rs369200051		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:2191949G>T	ENST00000381178.1	-	2	172	c.154C>A	c.(154-156)Cca>Aca	p.P52T	TH_ENST00000381175.1_Missense_Mutation_p.P48T|TH_ENST00000352909.3_Intron|TH_ENST00000333684.5_Intron|MIR4686_ENST00000584128.1_RNA	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	52					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GATGCAGCTGGGGCTGCAGTT	0.672																																																	0													17	21	20					11																	2191949		2200	4295	6495	SO:0001583	missense	0			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.154C>A	11.37:g.2191949G>T	ENSP00000370571:p.Pro52Thr		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.P52T	ENST00000381178.1	37	c.154	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	G	6.890	0.533607	0.13188	.	.	ENSG00000180176	ENST00000381178;ENST00000381175	D;D	0.99429	-5.89;-5.89	2.41	-1.06	0.10002	Tyrosine hydroxylase, conserved site (1);	605.235000	0.00966	U	0.003178	D	0.97766	0.9267	L	0.36672	1.1	0.09310	N	1	B;B	0.14805	0.011;0.009	B;B	0.15052	0.012;0.007	D	0.95515	0.8589	10	0.40728	T	0.16	.	5.8033	0.18426	0.4434:0.0:0.5566:0.0	.	52;48	P07101;P07101-2	TY3H_HUMAN;.	T	52;48	ENSP00000370571:P52T;ENSP00000370567:P48T	ENSP00000370567:P48T	P	-	1	0	TH	2148525	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.129000	0.15830	-0.412000	0.07519	-0.350000	0.07774	CCA	TH	-	pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like	ENSG00000180176		0.672	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	-	0	20	0	G	NM_000360		2191949	-1	tier1	-	no_errors	ENST00000381178	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.000	T	T	2191949	G	T	2191949	3	4	14	1	0	0	0	0	1	0	0	0	15885	1232	43	3	1484	3	TH	11	2191949	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	925987	2191949	132814567	153	4385											
OR52E8	390079	genome.wustl.edu	37	chr11	5878582	5878582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggccaccaacacaatgctCtccatagcagtgaagaaatg	15	7	8	11	0	1	2	0	1	1	1	2	2	1	2	3	1	3	2	3	1	5	1	rs144473097	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:5878582C>T	ENST00000537935.1	-	1	382	c.351G>A	c.(349-351)gaG>gaA	p.E117E	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACAATGCTCTCCATAGCAG	0.453																																																	0													193	210	204					11																	5878582		2153	4296	6449	SO:0001819	synonymous_variant	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.351G>A	11.37:g.5878582C>T			B9EH38	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E117	ENST00000537935.1	37	c.351	CCDS31400.1	11																																																																																			OR52E8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183269		0.453	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	HGNC	protein_coding	OTTHUMT00000401145.1	-	0	62	0	C	NM_001005168		5878582	-1	tier1	-	no_errors	ENST00000537935	ensembl	human	known	74_37	silent	23.53	52	16	SNP	0.026	T	T	5878582	C	T	5878582	2	4	14	1	0	0	0	0	0	0	0	1	11157	912	32	3		3	OR52E8	11	5878582	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3686633	5878582	129127934	154	4386											
DCHS1	8642	genome.wustl.edu	37	chr11	6648765	6648765	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaaagcagcgtggcactGagagctggctggcctccatc	9	7	13	12	1	1	1	1	1	0	1	3	2	2	1	2	3	3	4	2	3	2	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:6648765G>T	ENST00000299441.3	-	14	5916	c.5505C>A	c.(5503-5505)ctC>ctA	p.L1835L		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1835	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGTGGCACTGAGAGCTGGCT	0.592																																																	0													33	24	27					11																	6648765		2201	4296	6497	SO:0001819	synonymous_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5505C>A	11.37:g.6648765G>T			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1835	ENST00000299441.3	37	c.5505	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	-	0	17	0	G	NM_003737		6648765	-1	tier1	-	no_errors	ENST00000299441	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.995	T	T	6648765	G	T	6648765	2	4	14	1	0	0	0	0	0	0	0	1	4296	1277	45	3		3	DCHS1	11	6648765	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	770183	6648765	128357751	155	4387											
C11orf16	56673	genome.wustl.edu	37	chr11	8947409	8947409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcaggcatgatggtGgcagagagggcacaggaatg	11	5	18	7	0	0	2	0	1	0	1	0	4	0	3	0	6	1	5	0	6	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:8947409G>T	ENST00000326053.5	-	5	911	c.805C>A	c.(805-807)Cac>Aac	p.H269N	C11orf16_ENST00000525780.1_Missense_Mutation_p.H269N|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	269										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCATGATGGTGGCAGAGAGGG	0.612																																																	0													73	72	73					11																	8947409		2201	4296	6497	SO:0001583	missense	0			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.805C>A	11.37:g.8947409G>T	ENSP00000318999:p.His269Asn		Q53FB2|Q8N6Y9	Missense_Mutation	SNP	NULL	p.H269N	ENST00000326053.5	37	c.805	CCDS7794.1	11	.	.	.	.	.	.	.	.	.	.	G	3.715	-0.058658	0.07317	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.36520	1.29;1.25	6.07	2.19	0.27852	.	1.441280	0.03770	N	0.259645	T	0.31199	0.0789	L	0.40543	1.245	0.09310	N	1	P;P	0.37276	0.589;0.589	B;B	0.38378	0.272;0.272	T	0.16129	-1.0413	10	0.27785	T	0.31	-28.6123	4.9235	0.13882	0.3499:0.1443:0.5058:0.0	.	269;269	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	N	269	ENSP00000436818:H269N;ENSP00000318999:H269N	ENSP00000318999:H269N	H	-	1	0	C11orf16	8903985	0.000000	0.05858	0.009000	0.14445	0.108000	0.19459	0.161000	0.16481	0.163000	0.19507	-0.136000	0.14681	CAC	C11orf16	-	NULL	ENSG00000176029		0.612	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf16	HGNC	protein_coding	OTTHUMT00000385626.1		0	35	0	G	NM_020643		8947409	-1			no_errors	ENST00000326053	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.001	T	T	8947409	G	T	8947409	3	4	14	1	0	0	0	0	1	0	0	0	1636	1348	47	3	606	3	C11orf16	11	8947409	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2298644	8947409	126059107	156	4388											
PAMR1	25891	genome.wustl.edu	37	chr11	35492294	35492294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatgatctggccatcgcgGttgtctccatcacgaacctc	7	12	9	13	3	3	2	1	2	2	0	6	3	3	2	3	2	1	1	3	2	1	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:35492294G>A	ENST00000378880.2	-	5	1012	c.567C>T	c.(565-567)aaC>aaT	p.N189N	PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Silent_p.N189N|PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000532848.1_Silent_p.N149N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	189	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGCCATCGCGGTTGTCTCCAT	0.542																																																	0													147	109	122					11																	35492294		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.567C>T	11.37:g.35492294G>A			A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.N189	ENST00000378880.2	37	c.567	CCDS31460.1	11																																																																																			PAMR1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000149090		0.542	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	-	0	29	0	G	NM_015430		35492294	-1	tier1	-	no_errors	ENST00000278360	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.966	A	A	35492294	G	A	35492294	2	1	14	1	0	0	0	0	0	0	0	1	11452	1252	44	3		3	PAMR1	11	35492294	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	26544885	35492294	99514222	157	4389											
AMBRA1	55626	genome.wustl.edu	37	chr11	46515719	46515719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagacatccgggcattgCgtggagctcggtgcctggat	6	9	16	10	3	0	1	0	0	0	1	2	3	1	3	2	4	4	3	2	4	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:46515719C>T	ENST00000458649.2	-	10	2793	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	AMBRA1_ENST00000298834.3_Missense_Mutation_p.R732H|AMBRA1_ENST00000314845.3_Missense_Mutation_p.R702H|AMBRA1_ENST00000529963.1_5'UTR|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R673H|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R732H|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R763H|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R763H			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	792					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCGGGCATTGCGTGGAGCTCG	0.488																																																	0													55	49	51					11																	46515719		2201	4299	6500	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2375G>A	11.37:g.46515719C>T	ENSP00000415327:p.Arg792His		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R792H	ENST00000458649.2	37	c.2375		11	.	.	.	.	.	.	.	.	.	.	C	33	5.219222	0.95139	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	L	0.29908	0.895	0.38626	D	0.951262	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.83275	0.996;0.994;0.994;0.994;0.996;0.994	D	0.94380	0.7604	10	0.87932	D	0	.	18.8277	0.92124	0.0:1.0:0.0:0.0	.	792;763;732;673;795;702	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	H	702;673;732;763;732;792;763	ENSP00000318313:R702H;ENSP00000433372:R673H;ENSP00000431926:R732H;ENSP00000410899:R763H;ENSP00000298834:R732H;ENSP00000415327:R792H;ENSP00000433945:R763H	ENSP00000298834:R732H	R	-	2	0	AMBRA1	46472295	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	7.105000	0.77031	2.522000	0.85027	0.650000	0.86243	CGC	AMBRA1	-	NULL	ENSG00000110497		0.488	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	41	0	C	NM_017749		46515719	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	T	T	46515719	C	T	46515719	3	4	14	1	0	0	0	0	1	0	0	0	565	768	27	1	1557	1	AMBRA1	11	46515719	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	11023425	46515719	88490797	158	4390											
HARBI1	283254	genome.wustl.edu	37	chr11	46625423	46625423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcaggaatgtgaagtgggGtcatgagccaggttcgaaga	11	10	15	5	1	2	3	2	2	0	1	3	5	2	4	1	4	1	1	1	4	3	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:46625423G>T	ENST00000326737.3	-	3	954	c.707C>A	c.(706-708)aCc>aAc	p.T236N		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	236						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GTGAAGTGGGGTCATGAGCCA	0.443																																																	0													92	80	84					11																	46625423		2201	4299	6500	SO:0001583	missense	0			AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"chromosome 11 open reading frame 77"	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.707C>A	11.37:g.46625423G>T	ENSP00000317743:p.Thr236Asn		D3DQP9	Missense_Mutation	SNP	pfam_Harbinger_derived_prot_plant	p.T236N	ENST00000326737.3	37	c.707	CCDS7920.1	11	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725019	0.89298	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.47	5.47	0.80525	.	0.050373	0.85682	D	0.000000	D	0.85737	0.5766	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.86894	0.2050	9	0.44086	T	0.13	-8.4559	19.3496	0.94378	0.0:0.0:1.0:0.0	.	236	Q96MB7	HARB1_HUMAN	N	236	.	ENSP00000317743:T236N	T	-	2	0	HARBI1	46581999	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	8.633000	0.90999	2.571000	0.86741	0.655000	0.94253	ACC	HARBI1	-	pfam_Harbinger_derived_prot_plant	ENSG00000180423		0.443	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARBI1	HGNC	protein_coding	OTTHUMT00000390291.1		0	10	0	G	NM_173811		46625423	-1			no_errors	ENST00000326737	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	46625423	G	T	46625423	3	4	14	1	0	0	0	0	1	0	0	0	6985	1261	44	3	346	3	HARBI1	11	46625423	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	109704	46625423	88381093	159	4391											
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	52	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	G	G	49204790	A	G	49204790	2	3	14	1	0	0	0	0	0	0	0	1	6001	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	2579367	49204790	85801726	160	4392											
OR4C11	219429	genome.wustl.edu	37	chr11	55371492	55371492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacagatggccacatagcGatcaacagccatgagaatga	15	7	9	10	1	1	3	1	2	0	2	1	5	1	3	2	1	4	0	2	1	4	2	rs139149255	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:55371492G>A	ENST00000302231.4	-	1	382	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCCACATAGCGATCAACAGCC	0.433													g|||	3	0.000599042	0	0	5008	,	,		14367	0.002		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)						G	CYS/ARG	7,4351		1,5,2173	92	77	83		358	3.4	1	11	dbSNP_134	83	0,8012		0,0,4006	yes	missense	OR4C11	NM_001004700.2	180	1,5,6179	AA,AG,GG		0.0,0.1606,0.0566	possibly-damaging	120/311	55371492	7,12363	2179	4006	6185	SO:0001583	missense	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.358C>T	11.37:g.55371492G>A	ENSP00000306651:p.Arg120Cys		B9EIL4|Q8NGL8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R120C	ENST00000302231.4	37	c.358	CCDS31503.1	11	.	.	.	.	.	.	.	.	.	.	G	8.061	0.768116	0.15983	0.001606	0.0	ENSG00000172188	ENST00000302231	T	0.77358	-1.09	4.34	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	U	0.000140	T	0.76535	0.4001	M	0.85945	2.785	0.35847	D	0.826489	B	0.27971	0.196	B	0.18561	0.022	T	0.80381	-0.1406	10	0.66056	D	0.02	.	9.6689	0.40000	0.0:0.0:0.6221:0.3779	.	120	Q6IEV9	OR4CB_HUMAN	C	120	ENSP00000306651:R120C	ENSP00000306651:R120C	R	-	1	0	OR4C11	55128068	0.454000	0.25728	0.988000	0.46212	0.114000	0.19823	1.490000	0.35573	1.171000	0.42768	0.478000	0.44815	CGC	OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172188		0.433	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	-	0	19	0	G	NM_001004700		55371492	-1	tier1	rs139149255	no_errors	ENST00000302231	ensembl	human	known	74_37	missense	66.67	11	22	SNP	0.999	A	A	55371492	G	A	55371492	3	1	14	1	0	0	0	0	1	0	0	0	11084	1058	37	1	576	1	OR4C11	11	55371492	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	6166702	55371492	79635024	161	4393											
STX5	6811	genome.wustl.edu	37	chr11	62595064	62595064	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaattcactgcgttgtcGgacagcacgcaaagctggct	9	9	13	10	3	1	1	1	1	0	0	2	2	1	2	0	3	3	5	0	3	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:62595064G>T	ENST00000294179.3	-	3	418	c.265C>A	c.(265-267)Cga>Aga	p.R89R	STX5_ENST00000541317.1_5'UTR|STX5_ENST00000394690.1_Silent_p.R35R|STX5_ENST00000377897.4_Silent_p.R89R	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	89					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.R89*(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						CTGCGTTGTCGGACAGCACGC	0.483																																																	1	Substitution - Nonsense(1)	ovary(1)											133	120	124					11																	62595064		2201	4299	6500	SO:0001819	synonymous_variant	0			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"syntaxin 5A"	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.265C>A	11.37:g.62595064G>T			B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Silent	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R89	ENST00000294179.3	37	c.265	CCDS8038.2	11																																																																																			STX5	-	superfamily_t-SNARE	ENSG00000162236		0.483	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX5	HGNC	protein_coding	OTTHUMT00000290113.1		0	25	0	G	NM_003164		62595064	-1			no_errors	ENST00000294179	ensembl	human	known	74_37	silent	7.41	25	2	SNP	1.000	T	T	62595064	G	T	62595064	2	4	14	1	0	0	0	0	0	0	0	1	15395	1124	39	2		2	STX5	11	62595064	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7223572	62595064	72411452	162	4394											
MAML2	84441	genome.wustl.edu	37	chr11	95825422	95825422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgttgctgCtgttgctgttgggtgtagtg	1	17	16	7	0	0	0	0	0	0	0	0	0	0	0	0	1	7	11	0	1	1	4	rs200834136		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:95825422C>T	ENST00000524717.1	-	2	3057	c.1773G>A	c.(1771-1773)caG>caA	p.Q591Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	591					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gctgttgctgctgttgctgTT	0.507			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													50	54	53					11																	95825422		2171	4250	6421	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1773G>A	11.37:g.95825422C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q591	ENST00000524717.1	37	c.1773	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0	27	0	C			95825422	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	16.67	30	6	SNP	1.000	T	T	95825422	C	T	95825422	2	4	14	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825422	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	33230358	95825422	39181094	163	4395											
CASP5	838	genome.wustl.edu	37	chr11	104872776	104872776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtgagattcttttcGtcaaccacagtgtagcccag	8	12	10	11	1	2	1	1	1	1	1	3	2	2	1	2	1	2	2	2	1	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:104872776G>A	ENST00000260315.3	-	5	695	c.696C>T	c.(694-696)gaC>gaT	p.D232D	CASP5_ENST00000531367.1_Silent_p.D90D|CASP5_ENST00000418434.1_Silent_p.D90D|CASP5_ENST00000526056.1_Silent_p.D245D|CASP5_ENST00000444749.2_Silent_p.D174D|CASP5_ENST00000393141.2_Silent_p.D245D|CASP5_ENST00000393139.2_3'UTR			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	232					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.D245D(1)|p.D216D(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GATTCTTTTCGTCAACCACAG	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											149	127	135					11																	104872776		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.696C>T	11.37:g.104872776G>A			B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Silent	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.D245	ENST00000260315.3	37	c.735	CCDS8328.2	11																																																																																			CASP5	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000137757		0.453	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	-	0	41	0	G	NM_004347		104872776	-1	tier1	-	no_errors	ENST00000393141	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.000	A	A	104872776	G	A	104872776	2	1	14	1	0	0	0	0	0	0	0	1	2681	1136	40	1		1	CASP5	11	104872776	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	9047354	104872776	30133740	164	4396											
GUCY1A2	2977	genome.wustl.edu	37	chr11	106558335	106558335	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggaaaccttttttattctCgacgaagaaagagaaggctt	14	12	9	6	2	1	2	0	0	1	2	2	6	1	3	1	2	1	1	1	2	6	6	rs373644440		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:106558335C>T	ENST00000526355.2	-	8	2607	c.2139G>A	c.(2137-2139)tcG>tcA	p.S713S	GUCY1A2_ENST00000282249.2_Silent_p.S744S|GUCY1A2_ENST00000347596.2_Silent_p.S734S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	713					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)	p.S713S(1)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TTTTTATTCTCGACGAAGAAA	0.473																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		0,4402		0,0,2201	165	162	163		2139	-4.8	0.9	11		163	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous	GUCY1A2	NM_000855.1		0,2,6497	TT,TC,CC		0.0233,0.0,0.0154		713/733	106558335	2,12996	2201	4298	6499	SO:0001819	synonymous_variant	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2139G>A	11.37:g.106558335C>T			A1L4C4|B7ZLT5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S744	ENST00000526355.2	37	c.2232	CCDS8335.1	11																																																																																			GUCY1A2	-	superfamily_A/G_cyclase	ENSG00000152402		0.473	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	-	0	50	0	C			106558335	-1	tier1	-	no_errors	ENST00000282249	ensembl	human	known	74_37	silent	34.62	51	27	SNP	0.594	T	T	106558335	C	T	106558335	2	4	14	1	0	0	0	0	0	0	0	1	6920	871	31	1		1	GUCY1A2	11	106558335	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1685559	106558335	28448181	165	4397											
H2AFX	3014	genome.wustl.edu	37	chr11	118965783	118965783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggatgttgggcaggaCgcctccctgggcgatcgtca	5	8	16	12	3	1	0	1	0	0	0	3	3	2	2	3	5	0	2	3	5	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:118965783C>A	ENST00000530167.1	-	1	394	c.322G>T	c.(322-324)Gtc>Ttc	p.V108F		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	108					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)	p.V108F(1)		lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TTGGGCAGGACGCCTCCCTGG	0.687								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	lung(1)											81	82	81					11																	118965783		2200	4294	6494	SO:0001583	missense	0			X14850	CCDS8410.1	11q23.3	2011-01-27						"Histones / Replication-independent"	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.322G>T	11.37:g.118965783C>A	ENSP00000434024:p.Val108Phe	1492	Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.V108F	ENST00000530167.1	37	c.322	CCDS8410.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.192923	0.94960	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	D;D	0.94046	-3.34;-3.34	5.92	5.92	0.95590	Histone-fold (2);Histone H2A (2);	0.000000	0.53938	D	0.000043	D	0.97123	0.9060	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97250	0.9897	10	0.87932	D	0	.	19.2987	0.94134	0.0:1.0:0.0:0.0	.	108	P16104	H2AX_HUMAN	F	108	ENSP00000434024:V108F;ENSP00000364310:V108F	ENSP00000364310:V108F	V	-	1	0	H2AFX	118470993	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	7.597000	0.82733	2.809000	0.96659	0.655000	0.94253	GTC	H2AFX	-	superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000188486		0.687	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFX	HGNC	protein_coding	OTTHUMT00000388330.2		0	48	0	C	NM_002105		118965783	-1			no_errors	ENST00000375167	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	118965783	C	A	118965783	3	1	14	1	0	0	0	0	1	0	0	0	6955	536	19	2	113	2	H2AFX	11	118965783	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	12407448	118965783	16040733	166	4398											
ROBO3	64221	genome.wustl.edu	37	chr11	124740981	124740981	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgtggctttccagtgcGagaccaaaggaaacccccca	12	5	11	13	2	0	2	0	0	0	2	1	4	1	3	5	2	3	1	5	2	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:124740981G>T	ENST00000397801.1	+	7	1297	c.1105G>T	c.(1105-1107)Gag>Tag	p.E369*	ROBO3_ENST00000538940.1_Nonsense_Mutation_p.E347*	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	369	Ig-like C2-type 4.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TTTCCAGTGCGAGACCAAAGG	0.612																																																	0													38	42	41					11																	124740981		1965	4145	6110	SO:0001587	stop_gained	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1105G>T	11.37:g.124740981G>T	ENSP00000380903:p.Glu369*			Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E369*	ENST00000397801.1	37	c.1105	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.756814	0.98471	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	.	.	.	4.3	3.38	0.38709	.	0.000000	0.37095	N	0.002259	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	11.8924	0.52637	0.0866:0.0:0.9134:0.0	.	.	.	.	X	369;347	.	ENSP00000380903:E369X	E	+	1	0	ROBO3	124246191	1.000000	0.71417	0.992000	0.48379	0.869000	0.49853	6.349000	0.73013	1.150000	0.42419	0.455000	0.32223	GAG	ROBO3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154134		0.612	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1		0	25	0	G	XM_370663		124740981	1			no_errors	ENST00000397801	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	124740981	G	T	124740981	4	4	14	1	0	0	0	0	0	1	0	0	13560	1059	37	2	1131	2	ROBO3	11	124740981	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	5775198	124740981	10265535	167	4399											
ST3GAL4	6484	genome.wustl.edu	37	chr11	126283472	126283472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcacattgccggctttGgctacccagacgcctacaac	8	9	10	14	2	0	1	0	0	0	1	0	1	0	1	3	3	5	3	3	3	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:126283472G>T	ENST00000526727.1	+	9	1218	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	ST3GAL4_ENST00000356132.4_Missense_Mutation_p.G288C|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.G271C|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.G277C|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.G282C|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.G282C|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.G278C|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.G281C|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.G282C|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.G278C			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	282					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TGCCGGCTTTGGCTACCCAGA	0.582																																																	0													111	96	101					11																	126283472		2201	4297	6498	SO:0001583	missense	0			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"Sialyltransferases"	10864	protein-coding gene	gene with protein product	"ST3Gal IV"	104240	"sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.844G>T	11.37:g.126283472G>T	ENSP00000436047:p.Gly282Cys		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.G288C	ENST00000526727.1	37	c.862	CCDS58193.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571528	0.86542	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.36	5.36	0.76844	.	.	.	.	.	T	0.69895	0.3162	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77598	-0.2528	9	0.87932	D	0	.	19.0893	0.93219	0.0:0.0:1.0:0.0	.	278;282	Q6IBE6;Q11206	.;SIA4C_HUMAN	C	278;282;288;278;282;282;282;271;281;277;118	ENSP00000227495:G278C;ENSP00000394354:G282C;ENSP00000348451:G288C;ENSP00000433989:G278C;ENSP00000433318:G282C;ENSP00000376437:G282C;ENSP00000436047:G282C;ENSP00000399444:G271C;ENSP00000434349:G281C;ENSP00000434668:G277C;ENSP00000431170:G118C	ENSP00000227495:G278C	G	+	1	0	ST3GAL4	125788682	1.000000	0.71417	0.982000	0.44146	0.785000	0.44390	9.109000	0.94291	2.523000	0.85059	0.455000	0.32223	GGC	ST3GAL4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000110080		0.582	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ST3GAL4	HGNC	protein_coding	OTTHUMT00000386470.1	-	0	51	0	G	NM_006278		126283472	1	tier1	-	no_errors	ENST00000356132	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	126283472	G	T	126283472	3	4	14	1	0	0	0	0	1	0	0	0	15264	1348	47	3	866	3	ST3GAL4	11	126283472	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1542491	126283472	8723044	168	4400											
THYN1	29087	genome.wustl.edu	37	chr11	134121080	134121080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgacttcatcagccagtGgctgcttagattcttcaaac	9	13	7	12	0	5	2	3	1	2	1	5	2	5	2	1	1	3	2	1	1	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr11:134121080G>T	ENST00000341541.3	-	2	627	c.166C>A	c.(166-168)Cac>Aac	p.H56N	THYN1_ENST00000525677.1_5'Flank|ACAD8_ENST00000537423.1_5'Flank|ACAD8_ENST00000543332.1_5'Flank|THYN1_ENST00000392595.2_Missense_Mutation_p.H56N|THYN1_ENST00000392594.3_Missense_Mutation_p.H56N|THYN1_ENST00000352327.5_Missense_Mutation_p.H56N|ACAD8_ENST00000281182.4_5'Flank|ACAD8_ENST00000374752.4_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	56						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		ATCAGCCAGTGGCTGCTTAGA	0.478																																																	0													186	191	189					11																	134121080		2201	4297	6498	SO:0001583	missense	0			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.166C>A	11.37:g.134121080G>T	ENSP00000341657:p.His56Asn		Q567Q2|Q9H3L4|Q9HC20	Missense_Mutation	SNP	pfam_EVE_domain,superfamily_PUA-like_domain	p.H56N	ENST00000341541.3	37	c.166	CCDS8496.1	11	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128415	0.56721	.	.	ENSG00000151500	ENST00000392595;ENST00000341541;ENST00000392594;ENST00000352327;ENST00000534274	.	.	.	5.16	-1.8	0.07907	EVE domain (1);PUA-like domain (1);	0.706089	0.15354	N	0.266781	T	0.59770	0.2218	M	0.84948	2.725	0.27720	N	0.94517	D;P;P	0.54964	0.969;0.666;0.61	P;P;B	0.53006	0.715;0.557;0.371	T	0.61486	-0.7053	9	0.72032	D	0.01	-7.0823	12.1257	0.53915	0.3088:0.0:0.6912:0.0	.	56;56;56	E9PPQ6;Q9P016-2;Q9P016	.;.;THYN1_HUMAN	N	56	.	ENSP00000341657:H56N	H	-	1	0	THYN1	133626290	1.000000	0.71417	0.051000	0.19133	0.633000	0.38033	3.576000	0.53878	-0.253000	0.09514	-0.302000	0.09304	CAC	THYN1	-	pfam_EVE_domain,superfamily_PUA-like_domain	ENSG00000151500		0.478	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	-	0	39	0	G	NM_014174		134121080	-1	tier1	-	no_errors	ENST00000341541	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.991	T	T	134121080	G	T	134121080	3	4	14	1	0	0	0	0	1	0	0	0	15933	1348	47	3	535	3	THYN1	11	134121080	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7837608	134121080	885436	169	4401											
CACNA1C	775	genome.wustl.edu	37	chr12	2717687	2717687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcaggctgctgtacCgctccatcgactcccacacg	6	8	8	19	3	0	0	0	0	0	0	4	1	3	0	5	1	3	5	5	1	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:2717687C>A	ENST00000347598.4	+	28	3427	c.3427C>A	c.(3427-3429)Cgc>Agc	p.R1143S	CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1123S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1143S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1148S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1123S|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1123S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1123S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1143	Dihydropyridine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1123G(1)|p.R658G(1)|p.R1173G(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTGCTGTACCGCTCCATCGA	0.577																																																	3	Substitution - Missense(3)	prostate(3)											51	48	49					12																	2717687		2203	4300	6503	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3427C>A	12.37:g.2717687C>A	ENSP00000266376:p.Arg1143Ser		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1123S	ENST00000347598.4	37	c.3367	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016154	0.75161	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	4.74	4.74	0.60224	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	L	0.37897	1.145	0.58432	D	0.999999	D;D;D;D;D;D;D;P;P;D;D;B;D;D;D;D;P;D;B;D;D;D;D;D;D	0.76494	0.999;0.999;0.983;0.998;0.999;0.999;0.998;0.942;0.756;0.999;0.998;0.237;0.998;0.999;0.998;0.997;0.804;0.999;0.389;0.997;0.999;0.999;0.999;0.992;0.999	D;D;P;D;D;D;D;P;P;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.91635	0.993;0.997;0.866;0.993;0.997;0.997;0.998;0.79;0.733;0.997;0.994;0.113;0.998;0.997;0.999;0.986;0.176;0.997;0.07;0.986;0.997;0.997;0.96;0.979;0.996	D	0.98080	1.0403	10	0.59425	D	0.04	.	14.2034	0.65719	0.1588:0.8412:0.0:0.0	.	1123;1120;1143;1123;1123;1123;1123;1123;1123;1143;1123;1094;1143;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1148;1123;1123;1123;1123;1123;1123;1123;1123;1123;1143;1143;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;1123;964	ENSP00000336982:R1148S;ENSP00000382563:R1123S;ENSP00000437936:R1123S;ENSP00000382552:R1123S;ENSP00000382547:R1123S;ENSP00000382506:R1123S;ENSP00000382530:R1123S;ENSP00000382546:R1123S;ENSP00000382500:R1123S;ENSP00000382549:R1123S;ENSP00000266376:R1143S;ENSP00000382515:R1143S;ENSP00000382510:R1123S;ENSP00000341092:R1123S;ENSP00000382537:R1123S;ENSP00000329877:R1123S;ENSP00000382557:R1123S;ENSP00000385724:R1123S;ENSP00000382512:R1123S;ENSP00000382542:R1123S;ENSP00000382526:R1123S;ENSP00000385896:R1123S;ENSP00000382504:R1123S	ENSP00000323129:R964S	R	+	1	0	CACNA1C	2587948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.465000	0.53064	2.618000	0.88619	0.655000	0.94253	CGC	CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	23	0	C	NM_000719		2717687	1			no_errors	ENST00000399634	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	2717687	C	A	2717687	3	1	14	1	0	0	0	0	1	0	0	0	2547	652	23	2	3645	2	CACNA1C	12	2717687	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		2717687	131134208	170	4402											
KCNA5	3741	genome.wustl.edu	37	chr12	5154047	5154047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttcgagtatccggagaGctctgggtccgcgcgggcca	6	9	14	12	5	2	1	0	0	2	1	5	3	4	1	3	3	1	2	3	3	2	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:5154047G>C	ENST00000252321.3	+	1	963	c.734G>C	c.(733-735)aGc>aCc	p.S245T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	245					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TATCCGGAGAGCTCTGGGTCC	0.582																																																	0													101	111	108					12																	5154047		2203	4300	6503	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.734G>C	12.37:g.5154047G>C	ENSP00000252321:p.Ser245Thr		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S245T	ENST00000252321.3	37	c.734	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705150	0.48412	.	.	ENSG00000130037	ENST00000252321	T	0.65916	-0.18	4.77	4.77	0.60923	.	0.000000	0.85682	U	0.000000	T	0.65144	0.2663	M	0.74647	2.275	0.80722	D	1	B	0.19073	0.033	B	0.22880	0.042	T	0.65944	-0.6045	10	0.54805	T	0.06	.	16.9696	0.86295	0.0:0.0:1.0:0.0	.	245	P22460	KCNA5_HUMAN	T	245	ENSP00000252321:S245T	ENSP00000252321:S245T	S	+	2	0	KCNA5	5024308	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	9.569000	0.98170	2.478000	0.83669	0.561000	0.74099	AGC	KCNA5	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000130037		0.582	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	49	0	G	NM_002234		5154047	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	26.56	47	17	SNP	1.000	C	C	5154047	G	C	5154047	3	2	14	1	0	0	0	0	1	0	0	0	8033	971	34	5	736	5	KCNA5	12	5154047	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2436360	5154047	128697848	171	4403											
LST-3TM12	338821	genome.wustl.edu	37	chr12	21196409	21196409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaataaaccacagaaagaaaGgaaagtttcactatttttgc	19	10	6	6	0	1	2	1	0	0	2	1	3	1	3	1	1	2	1	1	1	7	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:21196409G>A	ENST00000421593.2	+	6	728	c.728G>A	c.(727-729)aGg>aAg	p.R243K	LST3_ENST00000381541.3_Missense_Mutation_p.R290K|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R290K|LST3_ENST00000540229.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAGAAAGAAAGGAAAGTTTCA	0.323																																																	0													84	85	85					12																	21196409		2199	4299	6498	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.728G>A	12.37:g.21196409G>A	ENSP00000394168:p.Arg243Lys		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R290K	ENST00000421593.2	37	c.869	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	4.651	0.121065	0.08881	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.80653	-1.4;-1.4;1.07	3.17	1.28	0.21552	.	2.800900	0.00988	N	0.003496	T	0.67439	0.2893	N	0.25890	0.77	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.15052	0.006;0.012	T	0.52328	-0.8590	10	0.07030	T	0.85	.	5.5299	0.16978	0.3856:0.0:0.6144:0.0	.	243;290	G3V0H7;F5H094	.;.	K	290;290;243	ENSP00000370952:R290K;ENSP00000452013:R290K;ENSP00000394168:R243K	ENSP00000370952:R290K	R	+	2	0	SLCO1B7;RP11-545J16.1	21087676	0.744000	0.28250	0.037000	0.18230	0.172000	0.22775	0.913000	0.28611	0.182000	0.20032	0.305000	0.20034	AGG	SLCO1B7	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.323	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	-	0	67	0	G	NM_001009562		21196409	1	tier1	-	no_errors	ENST00000554957	ensembl	human	known	74_37	missense	30.34	62	27	SNP	0.013	A	A	21196409	G	A	21196409	3	1	14	1	0	0	0	0	1	0	0	0	9101	1000	35	3	750	3	LST-3TM12	12	21196409	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	16042362	21196409	112655486	172	4404											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43925975	43925975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctaagaaatattcaccGttctgtcctttaaatgttcc	10	16	6	9	1	3	1	1	0	2	1	5	1	5	1	3	1	0	3	3	1	5	8			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:43925975G>A	ENST00000389420.3	-	3	476	c.477C>T	c.(475-477)aaC>aaT	p.N159N	ADAMTS20_ENST00000553158.1_Silent_p.N159N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	159					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATATTCACCGTTCTGTCCTT	0.338																																																	0													127	131	130					12																	43925975		2202	4300	6502	SO:0001819	synonymous_variant	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.477C>T	12.37:g.43925975G>A			A6NNC9|J3QT00	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.N159	ENST00000389420.3	37	c.477	CCDS31778.2	12																																																																																			ADAMTS20	-	pfam_Peptidase_M12B_N	ENSG00000173157		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	36	0	G	NM_025003		43925975	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	silent	29.79	33	14	SNP	1.000	A	A	43925975	G	A	43925975	2	1	14	1	0	0	0	0	0	0	0	1	266	1136	40	1		1	ADAMTS20	12	43925975	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	22729566	43925975	89925920	173	4405											
PRPF40B	25766	genome.wustl.edu	37	chr12	50036107	50036108	+	Missense_Mutation	DNP	GC	GC	TT																															gaagctgcctttcgaagcatGctgaggcaggctgtgcctgc																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:50036107_50036108GC>TT	ENST00000380281.1	+	19	1972_1973	c.1908_1909GC>TT	c.(1906-1911)atGCtg>atTTtg	p.M636I	PRPF40B_ENST00000261897.1_Missense_Mutation_p.M623I|PRPF40B_ENST00000548825.2_Missense_Mutation_p.M658I|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	636	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TTCGAAGCATGCTGAGGCAGGC	0.649																																																	0																																										SO:0001583	missense	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		Exception_encountered	12.37:g.50036107_50036108delinsTT	ENSP00000369634:p.Met636Ile		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation|Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.M658I|p.L659	ENST00000380281.1	37	c.1974|c.1975		12																																																																																			PRPF40B	-	superfamily_FF_domain,smart_FF_domain	ENSG00000110844		0.649	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	-	0	14|13	0	G|C	NM_012272		50036107|50036108	1	tier1	-	no_errors	ENST00000548825	ensembl	human	known	74_37	missense|silent	18.52	22	5	SNP	1.000	T	TT	50036108	GC	TT	50036107	3	4	14	1	0	0	0	0	1	0	0	0	12614	1319	46	3	1982	3	PRPF40B	12	50036107	Missense_Mutation	DNP	GC	TCGA-IC-A6RF-01A-13D-A33E-09	6110132	50036107	83815788	174	4406											
FMNL3	91010	genome.wustl.edu	37	chr12	50044560	50044560	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaacagagtcaccttgctGgcagctttttgcgctgtctt	6	14	9	12	1	2	1	1	0	1	1	3	1	3	1	2	1	4	4	2	1	1	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:50044560G>T	ENST00000293590.5	-	17	2132	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	FMNL3_ENST00000352151.5_Silent_p.A582A|FMNL3_ENST00000335154.5_Silent_p.A633A|FMNL3_ENST00000550488.1_Silent_p.A633A			Q8IVF7	FMNL3_HUMAN	formin-like 3	633	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCACCTTGCTGGCAGCTTTTT	0.522																																																	0													123	118	120					12																	50044560		2009	4179	6188	SO:0001819	synonymous_variant	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1899C>A	12.37:g.50044560G>T			B0JZA7|Q6ZRJ1	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.A633	ENST00000293590.5	37	c.1899		12																																																																																			FMNL3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000161791		0.522	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding			0	25	0	G	NM_175736		50044560	-1			no_errors	ENST00000293590	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	50044560	G	T	50044560	2	4	14	1	0	0	0	0	0	0	0	1	5975	1335	47	3		3	FMNL3	12	50044560	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	8453	50044560	83807335	175	4407											
KRT85	3891	genome.wustl.edu	37	chr12	52757081	52757081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcggctggcaacatcGtcatactgagccttgatctc	7	10	11	13	3	2	2	1	2	1	0	4	2	2	2	1	3	4	3	1	3	2	2	rs372918365		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:52757081G>A	ENST00000257901.3	-	5	975	c.900C>T	c.(898-900)gaC>gaT	p.D300D	KRT85_ENST00000544265.1_Silent_p.D88D	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	300	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.D300D(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCAACATCGTCATACTGAG	0.577																																																	1	Substitution - coding silent(1)	endometrium(1)						G		0,4406		0,0,2203	115	82	93		900	-8.6	0.8	12		93	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT85	NM_002283.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		300/508	52757081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.900C>T	12.37:g.52757081G>A			Q9NSB1	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.D300	ENST00000257901.3	37	c.900	CCDS8824.1	12																																																																																			KRT85	-	pfam_IF	ENSG00000135443		0.577	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	-	0	38	0	G	NM_002283		52757081	-1	tier1	-	no_errors	ENST00000257901	ensembl	human	known	74_37	silent	39.66	35	23	SNP	0.833	A	A	52757081	G	A	52757081	2	1	14	1	0	0	0	0	0	0	0	1	8526	1136	40	1		1	KRT85	12	52757081	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2712521	52757081	81094814	176	4408											
FAM19A2	338811	genome.wustl.edu	37	chr12	62147482	62147485	+	Frame_Shift_Del	DEL	AGAC	AGAC	-																															ctttacattcttctccctctAgacatggctgcatatggcac																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	AGAC	AGAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:62147482_62147485delAGAC	ENST00000416284.3	-	4	1886_1889	c.302_305delGTCT	c.(301-306)tgtctafs	p.CL101fs	FAM19A2_ENST00000550003.1_Frame_Shift_Del_p.CL4fs|FAM19A2_ENST00000551619.1_Frame_Shift_Del_p.CL101fs|FAM19A2_ENST00000551449.1_Intron	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	101						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTCTCCCTCTAGACATGGCTGCAT	0.407																																																	0																																										SO:0001589	frameshift_variant	0			AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.302_305delGTCT	12.37:g.62147482_62147485delAGAC	ENSP00000393987:p.Cys101fs		B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Frame_Shift_Del	DEL	pfam_Chemokine-like_FAM19A2	p.C101fs	ENST00000416284.3	37	c.305_302	CCDS8962.1	12																																																																																			FAM19A2	-	pfam_Chemokine-like_FAM19A2	ENSG00000198673		0.407	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A2	HGNC	protein_coding	OTTHUMT00000407967.2		0	56	0	AGAC	NM_178539		62147485	-1	tier1		no_errors	ENST00000416284	ensembl	human	known	74_37	frame_shift_del	23.64	42	13	DEL	1.000:1.000:1.000:1.000	-	-	62147485	AGAC	-	62147482	7	5	14	1	0	1	0	1	0	0	0	0	5551	420	15	0	98	0	FAM19A2	12	62147482	Frame_Shift_Del	DEL	AGAC	TCGA-IC-A6RF-01A-13D-A33E-09	9390401	62147482	71704413	177	4409											
MON2	23041	genome.wustl.edu	37	chr12	62949801	62949801	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctactggacagagttCgagagtcctctaccactgca	10	11	8	12	1	3	2	1	0	2	2	5	4	4	3	2	1	3	2	2	1	2	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:62949801C>A	ENST00000393632.2	+	25	3629	c.3238C>A	c.(3238-3240)Cga>Aga	p.R1080R	MON2_ENST00000552738.1_Silent_p.R1057R|MON2_ENST00000393630.3_Silent_p.R1081R|MON2_ENST00000546600.1_Silent_p.R1080R|MON2_ENST00000393629.2_Silent_p.R1080R|MON2_ENST00000280379.6_Silent_p.R1081R	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1080					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R1080*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGACAGAGTTCGAGAGTCCTC	0.388																																																	1	Substitution - Nonsense(1)	large_intestine(1)											59	55	56					12																	62949801		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3238C>A	12.37:g.62949801C>A			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.R1081	ENST00000393632.2	37	c.3241	CCDS31849.1	12																																																																																			MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.388	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3		0	44	0	C	NM_015026		62949801	1			no_errors	ENST00000393630	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	A	A	62949801	C	A	62949801	2	1	14	1	0	0	0	0	0	0	0	1	9738	876	31	2		2	MON2	12	62949801	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	802319	62949801	70902094	178	4410											
OSBPL8	114882	genome.wustl.edu	37	chr12	76881290	76881290	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatatatgaactactcacCgaagttcgatcaggttctcc	11	12	7	11	2	4	1	3	1	1	0	6	3	4	1	2	1	2	2	2	1	5	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:76881290C>T	ENST00000261183.3	-	2	521	c.42G>A	c.(40-42)tcG>tcA	p.S14S	OSBPL8_ENST00000393249.2_5'UTR|OSBPL8_ENST00000393250.4_5'UTR|OSBPL8_ENST00000552178.1_5'Flank	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	14					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AACTACTCACCGAAGTTCGAT	0.353																																																	0													95	79	85					12																	76881290		2203	4300	6503	SO:0001630	splice_region_variant	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.42+1G>A	12.37:g.76881290C>T			A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S14	ENST00000261183.3	37	c.42	CCDS31862.1	12																																																																																			OSBPL8	-	NULL	ENSG00000091039		0.353	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	-	0	42	0	C	NM_020841	Silent	76881290	-1	tier1	-	no_errors	ENST00000261183	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	76881290	C	T	76881290	5	4	14	1	0	0	0	0	0	0	1	0	11322	666	23	1	2719	1	OSBPL8	12	76881290	Splice_Site	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	13931489	76881290	56970605	179	4411											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85638646	85638646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgtctgtgaacagagAaaaaaaaaatcaggcacaca	18	8	8	7	0	2	2	1	1	1	1	2	3	2	2	0	1	2	2	0	1	6	1	rs5799725|rs398102301	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:85638646A>G	ENST00000393217.2	+	27	5157	c.5096A>G	c.(5095-5097)gAa>gGa	p.E1699G	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1699										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTGAACAGAGAAAAAAAAAAT	0.388																																																	0													79	61	67					12																	85638646		1828	4079	5907	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.5096A>G	12.37:g.85638646A>G	ENSP00000376910:p.Glu1699Gly		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1699G	ENST00000393217.2	37	c.5096	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	13.97	2.394556	0.42512	.	.	ENSG00000133640	ENST00000393217	T	0.53206	0.63	5.9	4.77	0.60923	.	.	.	.	.	T	0.31199	0.0789	N	0.14661	0.345	0.26791	N	0.969395	B	0.30664	0.289	B	0.28784	0.094	T	0.22871	-1.0204	9	0.87932	D	0	.	10.1042	0.42524	0.9251:0.0:0.0749:0.0	.	1699	Q96JM4	LRIQ1_HUMAN	G	1699	ENSP00000376910:E1699G	ENSP00000376910:E1699G	E	+	2	0	LRRIQ1	84162777	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.991000	0.49409	2.254000	0.74563	0.460000	0.39030	GAA	LRRIQ1	-	NULL	ENSG00000133640		0.388	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2		0	16	0	A	NM_032165		85638646	1			no_errors	ENST00000393217	ensembl	human	known	74_37	missense	6.12	21	3	SNP	1.000	G	G	85638646	A	G	85638646	3	3	14	1	0	0	0	0	1	0	0	0	9064	246	9	4	5202	4	LRRIQ1	12	85638646	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	8757356	85638646	48213249	180	4412											
MGAT4C	25834	genome.wustl.edu	37	chr12	86383258	86383258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaatgacactgtagaacGttttctcaggcatctcattt	12	13	7	9	1	2	3	2	1	2	2	4	3	2	3	0	1	1	3	0	1	4	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:86383258G>T	ENST00000604798.1	-	6	1271	c.67C>A	c.(67-69)Cgt>Agt	p.R23S	MGAT4C_ENST00000332156.1_Missense_Mutation_p.R23S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R23S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R23S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R52S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R23S|MGAT4C_ENST00000552435.2_Missense_Mutation_p.R23S			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	23					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R23C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACTGTAGAACGTTTTCTCAGG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											82	72	76					12																	86383258		2202	4299	6501	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.67C>A	12.37:g.86383258G>T	ENSP00000474896:p.Arg23Ser		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.R52S	ENST00000604798.1	37	c.154	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250299	0.59212	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225;ENST00000552435	T;T;T;T;T;T	0.51071	1.32;1.25;1.32;1.32;1.32;0.72	5.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.36672	1.1	0.46701	D	0.999168	D;B	0.89917	1.0;0.373	D;B	0.81914	0.995;0.141	T	0.57763	-0.7755	10	0.51188	T	0.08	-5.7685	14.9338	0.70938	0.0:0.0:0.7211:0.2789	.	52;23	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	S	23;52;23;23;23;23;23;23	ENSP00000331664:R23S;ENSP00000376900:R52S;ENSP00000449022:R23S;ENSP00000446647:R23S;ENSP00000447253:R23S;ENSP00000449172:R23S	ENSP00000331664:R23S	R	-	1	0	MGAT4C	84907389	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.096000	0.57734	2.749000	0.94314	0.655000	0.94253	CGT	MGAT4C	-	superfamily_LSM_dom	ENSG00000182050		0.323	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2		0	47	0	G	NM_013244		86383258	-1			no_errors	ENST00000393205	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	86383258	G	T	86383258	3	4	14	1	0	0	0	0	1	0	0	0	9585	1145	40	2	1381	2	MGAT4C	12	86383258	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	744612	86383258	47468637	181	4413											
KDM2B	84678	genome.wustl.edu	37	chr12	121951122	121951122	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcctgagtgaggtgggaGcgctgggtcacacagtacac	9	9	14	9	1	1	2	1	2	0	0	2	3	2	3	1	3	2	2	1	3	2	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:121951122G>T	ENST00000377071.4	-	10	1203	c.1131C>A	c.(1129-1131)cgC>cgA	p.R377R	KDM2B_ENST00000538046.2_Silent_p.R287R|KDM2B_ENST00000377069.4_Silent_p.R346R|KDM2B_ENST00000536437.1_Silent_p.R260R	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	377					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGAGGTGGGAGCGCTGGGTCA	0.547																																																	0													73	75	74					12																	121951122		2010	4162	6172	SO:0001819	synonymous_variant	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1131C>A	12.37:g.121951122G>T			A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R377	ENST00000377071.4	37	c.1131	CCDS41850.1	12																																																																																			KDM2B	-	NULL	ENSG00000089094		0.547	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	-	0	59	0	G	NM_032590		121951122	-1	tier1	-	no_errors	ENST00000377071	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.996	T	T	121951122	G	T	121951122	2	4	14	1	0	0	0	0	0	0	0	1	8152	958	34	3		3	KDM2B	12	121951122	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	35567864	121951122	11900773	182	4414											
ZCCHC8	55596	genome.wustl.edu	37	chr12	122962497	122962497	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttgttgccagacttCacacctggctaaaagagcaa	12	9	8	12	0	2	2	1	0	1	2	2	3	2	2	3	1	2	3	3	1	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:122962497C>A	ENST00000336229.4	-	13	1366	c.1236G>T	c.(1234-1236)gtG>gtT	p.V412V	ZCCHC8_ENST00000536306.1_Silent_p.V174V|ZCCHC8_ENST00000538116.1_Silent_p.V23V|ZCCHC8_ENST00000543897.1_Silent_p.V174V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	412					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TGCCAGACTTCACACCTGGCT	0.453																																																	0													86	83	84					12																	122962497		1884	4106	5990	SO:0001819	synonymous_variant	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1236G>T	12.37:g.122962497C>A			Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Silent	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.V412	ENST00000336229.4	37	c.1236		12																																																																																			ZCCHC8	-	NULL	ENSG00000033030		0.453	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding			0	22	0	C	NM_017612		122962497	-1			no_errors	ENST00000336229	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.000	A	A	122962497	C	A	122962497	2	1	14	1	0	0	0	0	0	0	0	1	17642	813	29	3		3	ZCCHC8	12	122962497	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1011375	122962497	10889398	183	4415											
ZNF664	144348	genome.wustl.edu	37	chr12	124497201	124497201	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacacaggagagaaaccCtataaatgttatgagtgtgg	14	9	11	7	0	0	2	0	1	0	1	1	4	1	3	2	2	1	1	2	2	5	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:124497201C>A	ENST00000539644.1	+	6	2340	c.510C>A	c.(508-510)ccC>ccA	p.P170P	ZNF664_ENST00000538932.2_Silent_p.P170P|ZNF664_ENST00000337815.4_Silent_p.P170P|ZNF664_ENST00000392404.3_Silent_p.P170P|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		GAGAGAAACCCTATAAATGTT	0.502																																																	0													89	94	92					12																	124497201		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.510C>A	12.37:g.124497201C>A			B3KP97|Q15914|Q3ZCQ7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P170	ENST00000539644.1	37	c.510	CCDS9257.1	12																																																																																			ZNF664	-	pfscan_Znf_C2H2	ENSG00000179195		0.502	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1		0	24	0	C	NM_152437		124497201	1			no_errors	ENST00000337815	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.994	A	A	124497201	C	A	124497201	2	1	14	1	0	0	0	0	0	0	0	1	18120	668	24	3		3	ZNF664	12	124497201	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	1534704	124497201	9354694	184	4416											
NCOR2	9612	genome.wustl.edu	37	chr12	124870324	124870324	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgcaagatctcatcGaggttctgcctcttcttgta	6	15	9	11	1	4	1	1	0	4	1	6	2	4	1	1	1	4	5	1	1	2	4	rs369119404		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr12:124870324G>T	ENST00000405201.1	-	17	1986	c.1986C>A	c.(1984-1986)ctC>ctA	p.L662L	NCOR2_ENST00000404621.1_Silent_p.L661L|NCOR2_ENST00000429285.2_Silent_p.L661L|NCOR2_ENST00000356219.3_Silent_p.L662L|NCOR2_ENST00000404121.2_Silent_p.L232L|NCOR2_ENST00000397355.1_Silent_p.L662L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	662					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGATCTCATCGAGGTTCTGCC	0.587																																																	0													122	135	130					12																	124870324		2158	4251	6409	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1986C>A	12.37:g.124870324G>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L662	ENST00000405201.1	37	c.1986	CCDS41858.2	12																																																																																			NCOR2	-	superfamily_Homeodomain-like	ENSG00000196498		0.587	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0	31	0	G	NM_006312		124870324	-1			no_errors	ENST00000356219	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.997	T	T	124870324	G	T	124870324	2	4	14	1	0	0	0	0	0	0	0	1	10275	1045	37	2		2	NCOR2	12	124870324	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	373123	124870324	8981571	185	4417											
ATP8A2	51761	genome.wustl.edu	37	chr13	26411318	26411318	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattttcaccgctttgccGcccttcactctgggaatctt	6	14	7	14	2	4	1	2	0	2	1	4	2	4	2	3	1	1	1	3	1	1	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr13:26411318G>T	ENST00000381655.2	+	29	2914	c.2772G>T	c.(2770-2772)ccG>ccT	p.P924P	ATP8A2_ENST00000255283.8_Silent_p.P859P|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	884					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCGCTTTGCCGCCCTTCACTC	0.498																																																	0													119	116	117					13																	26411318		1908	4126	6034	SO:0001819	synonymous_variant	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2772G>T	13.37:g.26411318G>T			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.P924	ENST00000381655.2	37	c.2772	CCDS41873.1	13																																																																																			ATP8A2	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000132932		0.498	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2		0	54	0	G	NM_016529		26411318	1			no_errors	ENST00000381655	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.006	T	T	26411318	G	T	26411318	2	4	14	1	0	0	0	0	0	0	0	1	1194	1074	38	2		2	ATP8A2	13	26411318	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		26411318	88758560	186	4418											
WASF3	10810	genome.wustl.edu	37	chr13	27216440	27216440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaggaacattgagccccgGcacttgtgccggggagctct	9	7	14	11	2	1	2	0	1	1	1	1	4	1	4	3	4	4	2	3	4	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr13:27216440G>A	ENST00000335327.5	+	3	211	c.33G>A	c.(31-33)cgG>cgA	p.R11R	WASF3_ENST00000361042.4_Silent_p.R11R|WASF3-AS1_ENST00000586418.1_RNA|WASF3-AS1_ENST00000413063.1_RNA|WASF3_ENST00000496788.1_3'UTR|WASF3-AS1_ENST00000585599.1_RNA	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	11					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTGAGCCCCGGCACTTGTGCC	0.438																																																	0													84	85	85					13																	27216440		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.33G>A	13.37:g.27216440G>A			O94974|Q86VQ2	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R11	ENST00000335327.5	37	c.33	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.438	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0	51	0	G			27216440	1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	silent	30.59	59	26	SNP	1.000	A	A	27216440	G	A	27216440	2	1	14	1	0	0	0	0	0	0	0	1	17303	1190	42	3		3	WASF3	13	27216440	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	805122	27216440	87953438	187	4419											
FNDC3A	22862	genome.wustl.edu	37	chr13	49765251	49765251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaagaaatacagttacGatggggtaatttccattttg	15	12	9	5	1	0	1	0	0	0	1	1	2	1	1	1	2	3	3	1	2	6	6	rs374043677		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr13:49765251G>T	ENST00000492622.2	+	18	2350	c.2045G>T	c.(2044-2046)cGa>cTa	p.R682L	FNDC3A_ENST00000541916.1_Missense_Mutation_p.R682L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.R626L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	682	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		ATACAGTTACGATGGGGTAAT	0.413																																																	0													69	78	75					13																	49765251		2203	4300	6503	SO:0001583	missense	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2045G>T	13.37:g.49765251G>T	ENSP00000417257:p.Arg682Leu		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R682L	ENST00000492622.2	37	c.2045	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573542	0.45902	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58060	0.36;0.36;0.36	5.18	5.18	0.71444	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.130447	0.34046	N	0.004320	T	0.41305	0.1153	L	0.35542	1.07	0.58432	D	0.999993	B;B	0.19445	0.036;0.023	B;B	0.22386	0.023;0.039	T	0.23261	-1.0193	10	0.32370	T	0.25	-5.0021	11.5296	0.50601	0.082:0.0:0.918:0.0	.	626;682	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	L	682;618;682;626	ENSP00000417257:R682L;ENSP00000441831:R682L;ENSP00000381362:R626L	ENSP00000338579:R618L	R	+	2	0	FNDC3A	48663252	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.001000	0.70685	2.573000	0.86826	0.655000	0.94253	CGA	FNDC3A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000102531		0.413	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	-	0	46	0	G	NM_014923		49765251	1	tier1	-	no_errors	ENST00000492622	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T	T	49765251	G	T	49765251	3	4	14	1	0	0	0	0	1	0	0	0	5991	1058	37	2	2122	2	FNDC3A	13	49765251	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	22548811	49765251	65404627	188	4420											
KLHL1	57626	genome.wustl.edu	37	chr13	70681620	70681620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaggaagaggaggaaggcTtcttccagaaagtgctcaca	15	6	13	7	0	2	3	1	0	1	3	3	6	3	6	1	4	1	2	1	4	4	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr13:70681620T>A	ENST00000377844.4	-	1	971	c.212A>T	c.(211-213)aAg>aTg	p.K71M	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_De_novo_Start_InFrame|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	71	Ser-rich.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ggaggaagGCTTCTTCCAGAA	0.582																																																	0													86	93	91					13																	70681620		2203	4300	6503	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.212A>T	13.37:g.70681620T>A	ENSP00000367075:p.Lys71Met		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.K71M	ENST00000377844.4	37	c.212	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102147	0.37048	.	.	ENSG00000150361	ENST00000377844	T	0.77229	-1.08	5.41	5.41	0.78517	.	1.484060	0.04154	N	0.321777	T	0.73369	0.3578	L	0.44542	1.39	0.80722	D	1	P;P	0.38642	0.511;0.641	B;B	0.34722	0.087;0.188	T	0.64816	-0.6318	10	0.87932	D	0	.	9.3726	0.38264	0.0:0.0802:0.0:0.9198	.	71;71	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	M	71	ENSP00000367075:K71M	ENSP00000367075:K71M	K	-	2	0	KLHL1	69579621	1.000000	0.71417	0.994000	0.49952	0.792000	0.44763	3.713000	0.54882	2.062000	0.61559	0.529000	0.55759	AAG	KLHL1	-	NULL	ENSG00000150361		0.582	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	-	0	35	0	T	NM_020866		70681620	-1	tier1	-	no_errors	ENST00000377844	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.982	A	A	70681620	T	A	70681620	3	1	14	1	0	0	0	0	1	0	0	0	8392	1609	56	5	2078	5	KLHL1	13	70681620	Missense_Mutation	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	20916369	70681620	44488258	189	4421											
RNASE4	6038	genome.wustl.edu	37	chr14	21167735	21167735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactttgtatcactgcaagCgcttcaacaccttcatccat	10	13	5	13	1	3	1	3	1	0	0	4	1	4	1	2	0	3	3	2	0	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:21167735C>T	ENST00000555835.1	+	2	881	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000304704.4_Missense_Mutation_p.R69C|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.R69C|RNASE4_ENST00000397995.2_Missense_Mutation_p.R69C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	69	Substrate binding.				cellular response to starvation (GO:0009267)|mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TCACTGCAAGCGCTTCAACAC	0.488																																					Esophageal Squamous(59;1059 1362 26290 51151)												0													157	127	137					14																	21167735		2203	4300	6503	SO:0001583	missense	0			U36775	CCDS9555.1	14q11	2014-07-16			ENSG00000258818	ENSG00000258818		"Ribonucleases, RNase A"	10047	protein-coding gene	gene with protein product		601030				7501448	Standard	NM_002937		Approved		uc001vxy.4	P34096	OTTHUMG00000029575	ENST00000555835.1:c.205C>T	14.37:g.21167735C>T	ENSP00000452245:p.Arg69Cys			Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.R69C	ENST00000555835.1	37	c.205	CCDS9555.1	14	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218406	0.58560	.	.	ENSG00000258818;ENSG00000258818;ENSG00000258818;ENSG00000181784;ENSG00000181784;ENSG00000181784	ENST00000555835;ENST00000397995;ENST00000555597;ENST00000398001;ENST00000304704;ENST00000397999	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.81	1.71	0.24356	Ribonuclease A, domain (4);	1.526630	0.03396	N	0.202551	T	0.59376	0.2189	M	0.78801	2.425	0.34329	D	0.687464	D	0.67145	0.996	P	0.60068	0.868	T	0.51639	-0.8680	10	0.87932	D	0	0.223	2.5396	0.04722	0.1521:0.5385:0.1473:0.162	.	69	P34096	RNAS4_HUMAN	C	69	ENSP00000452245:R69C;ENSP00000381081:R69C;ENSP00000451624:R69C;ENSP00000381087:R69C;ENSP00000307096:R69C;ENSP00000381085:R69C	ENSP00000307096:R69C	R	+	1	0	AL163636.2;RNASE4	20237575	0.065000	0.20965	0.438000	0.26821	0.682000	0.39822	0.113000	0.15499	0.454000	0.26884	0.655000	0.94253	CGC	RNASE4	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	ENSG00000258818		0.488	RNASE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE4	HGNC	protein_coding	OTTHUMT00000073729.3	-	0	29	0	C			21167735	1	tier1	-	no_errors	ENST00000304704	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.300	T	T	21167735	C	T	21167735	3	4	14	1	0	0	0	0	1	0	0	0	13451	768	27	1	207	1	RNASE4	14	21167735	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		21167735	86181805	190	4422											
CHD8	57680	genome.wustl.edu	37	chr14	21894322	21894322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcttctcgaggtgactGtgcaggcatgacttccacat	8	13	9	11	1	3	2	1	2	2	0	5	3	4	2	1	2	1	2	1	2	0	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:21894322G>T	ENST00000557364.1	-	5	1944	c.1681C>A	c.(1681-1683)Cag>Aag	p.Q561K	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.Q282K|CHD8_ENST00000399982.2_Missense_Mutation_p.Q561K			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	561					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.Q561*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGAGGTGACTGTGCAGGCATG	0.388																																																	1	Substitution - Nonsense(1)	prostate(1)											117	103	107					14																	21894322		1912	4140	6052	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1681C>A	14.37:g.21894322G>T	ENSP00000451601:p.Gln561Lys		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q561K	ENST00000557364.1	37	c.1681	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606441	0.28623	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.73258	-0.73;-0.73;-0.73	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000011	T	0.57784	0.2077	N	0.22421	0.69	0.39375	D	0.966154	B	0.21452	0.056	B	0.20955	0.032	T	0.54912	-0.8222	10	0.12103	T	0.63	-13.9116	18.349	0.90331	0.0:0.0:1.0:0.0	.	282	Q9HCK8-2	.	K	282;561;281;561	ENSP00000406288:Q282K;ENSP00000382863:Q561K;ENSP00000451601:Q561K	ENSP00000262707:Q281K	Q	-	1	0	CHD8	20964162	0.958000	0.32768	0.997000	0.53966	0.996000	0.88848	4.079000	0.57613	2.625000	0.88918	0.591000	0.81541	CAG	CHD8	-	NULL	ENSG00000100888		0.388	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0	23	0	G	NM_020920		21894322	-1			no_errors	ENST00000399982	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.990	T	T	21894322	G	T	21894322	3	4	14	1	0	0	0	0	1	0	0	0	3338	1386	48	3	6200	3	CHD8	14	21894322	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	726587	21894322	85455218	191	4423											
OR10G2	26534	genome.wustl.edu	37	chr14	22102857	22102857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacatggtgagcagaatgaGcaggttccccagctgagtga	11	7	13	10	0	0	5	0	4	0	1	1	5	1	5	3	2	3	4	3	2	1	1	rs372221393		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:22102857G>A	ENST00000542433.1	-	1	239	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGCAGAATGAGCAGGTTCCCC	0.512																																																	0								G	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	74	72	73		142	2.9	1	14		73	0,8600		0,0,4300	no	missense	OR10G2	NM_001005466.1	22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	48/311	22102857	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"GPCR / Class A : Olfactory receptors"	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.142C>T	14.37:g.22102857G>A	ENSP00000445383:p.Leu48Phe		B2RPD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L48F	ENST00000542433.1	37	c.142	CCDS32047.1	14	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828776	0.32329	2.27E-4	0.0	ENSG00000255582	ENST00000542433	T	0.02787	4.16	3.79	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	N	0.001441	T	0.05227	0.0139	M	0.73753	2.245	0.30530	N	0.767525	B	0.17852	0.024	B	0.22152	0.038	T	0.01504	-1.1338	10	0.66056	D	0.02	-15.6012	9.4611	0.38785	0.1126:0.0:0.8874:0.0	.	48	Q8NGC3	O10G2_HUMAN	F	48	ENSP00000445383:L48F	ENSP00000445383:L48F	L	-	1	0	OR10G2	21172697	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.121000	0.10643	1.941000	0.56285	0.563000	0.77884	CTC	OR10G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000255582		0.512	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G2	HGNC	protein_coding	OTTHUMT00000401525.1	-	0	31	0	G			22102857	-1	tier1	-	no_errors	ENST00000542433	ensembl	human	known	74_37	missense	29.07	61	25	SNP	0.999	A	A	22102857	G	A	22102857	3	1	14	1	0	0	0	0	1	0	0	0	10938	971	34	3	793	3	OR10G2	14	22102857	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	208535	22102857	85246683	192	4424											
KLHL28	54813	genome.wustl.edu	37	chr14	45400541	45400541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaattcttattacctgttCtaggttctttcattggtcta	9	20	5	7	0	5	0	1	0	4	0	5	0	5	0	1	2	1	2	1	2	6	10			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:45400541C>A	ENST00000396128.4	-	4	1666	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	KLHL28_ENST00000355081.2_Missense_Mutation_p.R530I	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	516								p.R516T(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATTACCTGTTCTAGGTTCTTT	0.358																																																	1	Substitution - Missense(1)	lung(1)											65	61	62					14																	45400541		2203	4300	6503	SO:0001583	missense	0			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1547G>T	14.37:g.45400541C>A	ENSP00000379434:p.Arg516Ile		Q0VAL5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R516I	ENST00000396128.4	37	c.1547	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682771	0.88542	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	D;D	0.85171	-1.95;-1.95	4.82	4.82	0.62117	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.95560	0.8557	H	0.98426	4.23	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.97612	1.0130	10	0.87932	D	0	.	17.8685	0.88803	0.0:1.0:0.0:0.0	.	516	Q9NXS3	KLH28_HUMAN	I	516;530	ENSP00000379434:R516I;ENSP00000347193:R530I	ENSP00000347193:R530I	R	-	2	0	KLHL28	44470291	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.411000	0.80078	2.397000	0.81536	0.557000	0.71058	AGA	KLHL28	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000179454		0.358	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3		0	36	0	C			45400541	-1			no_errors	ENST00000396128	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A	A	45400541	C	A	45400541	3	1	14	1	0	0	0	0	1	0	0	0	8409	913	32	3	176	3	KLHL28	14	45400541	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	23297684	45400541	61948999	193	4425											
HSPA2	3306	genome.wustl.edu	37	chr14	65008192	65008192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggcggtggcactttcGacgtgtccatcctgaccatc	6	10	11	14	3	0	1	0	1	0	0	4	2	2	1	4	3	0	1	4	3	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:65008192G>T	ENST00000394709.1	+	2	701	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Missense_Mutation_p.D209Y|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	209					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TGGCACTTTCGACGTGTCCAT	0.652																																					Pancreas(136;1211 1835 24894 31984 38227)												0													93	99	97					14																	65008192		2203	4300	6503	SO:0001583	missense	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.625G>T	14.37:g.65008192G>T	ENSP00000378199:p.Asp209Tyr		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D209Y	ENST00000394709.1	37	c.625	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709219	0.68615	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.17213	2.29;2.29	5.22	5.22	0.72569	Heat shock protein 70, conserved site (1);	0.000000	0.53938	U	0.000045	T	0.68979	0.3060	H	0.99976	5.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.86583	0.1855	10	0.87932	D	0	-15.6553	18.774	0.91902	0.0:0.0:1.0:0.0	.	209	P54652	HSP72_HUMAN	Y	209	ENSP00000378199:D209Y;ENSP00000247207:D209Y	ENSP00000247207:D209Y	D	+	1	0	HSPA2	64077945	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.869000	0.99810	2.422000	0.82143	0.563000	0.77884	GAC	HSPA2	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	ENSG00000126803		0.652	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	-	0	49	0	G			65008192	1	tier1	-	no_errors	ENST00000247207	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	65008192	G	T	65008192	3	4	14	1	0	0	0	0	1	0	0	0	7438	1058	37	2	627	2	HSPA2	14	65008192	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	19607651	65008192	42341348	194	4426											
PTPN21	11099	genome.wustl.edu	37	chr14	88945961	88945961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggctgtcctcctggaacGtttgcaccgagtggtgcacg	6	9	14	12	3	0	0	0	0	0	0	2	2	2	1	3	3	3	5	3	3	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:88945961G>A	ENST00000556564.1	-	13	2098	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M	PTPN21_ENST00000328736.3_Missense_Mutation_p.T605M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	605					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCCTGGAACGTTTGCACCGA	0.682																																																	0													18	17	17					14																	88945961		2198	4290	6488	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1814C>T	14.37:g.88945961G>A	ENSP00000452414:p.Thr605Met			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.T605M	ENST00000556564.1	37	c.1814	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522667	0.64747	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.74002	-0.8;-0.8	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	L	0.51914	1.62	0.46499	D	0.99907	P	0.48350	0.909	B	0.30646	0.118	T	0.66878	-0.5812	10	0.41790	T	0.15	.	12.254	0.54613	0.078:0.0:0.922:0.0	.	605	Q16825	PTN21_HUMAN	M	605	ENSP00000330276:T605M;ENSP00000452414:T605M	ENSP00000330276:T605M	T	-	2	0	PTPN21	88015714	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	6.742000	0.74843	2.439000	0.82584	0.655000	0.94253	ACG	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.682	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0	34	0	G			88945961	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	37.88	41	25	SNP	0.999	A	A	88945961	G	A	88945961	3	1	14	1	0	0	0	0	1	0	0	0	12831	1145	40	1	1738	1	PTPN21	14	88945961	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	23937769	88945961	18403579	195	4427											
KIAA1409	57578	genome.wustl.edu	37	chr14	94038291	94038291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgactcagctgaaggaaGgtctcaaccgaatcctctgc	11	8	10	12	1	3	2	2	2	2	0	5	4	4	3	2	2	3	1	2	2	4	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:94038291G>T	ENST00000393151.2	+	15	1807	c.1807G>T	c.(1807-1809)Ggt>Tgt	p.G603C	UNC79_ENST00000553484.1_Missense_Mutation_p.G603C|UNC79_ENST00000256339.4_Missense_Mutation_p.G426C|UNC79_ENST00000555664.1_Missense_Mutation_p.G603C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	603					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGAAGGAAGGTCTCAACCG	0.478																																																	0													115	107	110					14																	94038291		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1807G>T	14.37:g.94038291G>T	ENSP00000376858:p.Gly603Cys		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.G603C	ENST00000393151.2	37	c.1807		14	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847335	0.91277	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.37915	1.18;1.19;1.17;1.19	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61387	-0.7073	10	0.87932	D	0	-16.1255	19.9157	0.97061	0.0:0.0:1.0:0.0	.	603	C9JQL1	.	C	426;603;603;603;603	ENSP00000256339:G426C;ENSP00000450868:G603C;ENSP00000451360:G603C;ENSP00000376858:G603C	ENSP00000256339:G426C	G	+	1	0	KIAA1409	93108044	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.505000	0.97989	2.719000	0.93026	0.650000	0.86243	GGT	UNC79	-	NULL	ENSG00000133958		0.478	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1		0	31	0	G	XM_028395		94038291	1			no_errors	ENST00000553484	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	94038291	G	T	94038291	3	4	14	1	0	0	0	0	1	0	0	0	8257	1000	35	3	1322	3	KIAA1409	14	94038291	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	5092330	94038291	13311249	196	4428											
CLMN	79789	genome.wustl.edu	37	chr14	95662883	95662883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcttctaggtcatctgagGattgaacacttcctggtgct	7	15	9	10	0	4	2	1	2	3	0	5	3	5	3	1	3	2	1	1	3	2	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:95662883G>T	ENST00000298912.4	-	10	2773	c.2660C>A	c.(2659-2661)tCc>tAc	p.S887Y	CLMN_ENST00000556441.1_5'Flank|CLMN_ENST00000557215.1_5'Flank	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	887					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GTCATCTGAGGATTGAACACT	0.398																																																	0													181	152	162					14																	95662883		2203	4300	6503	SO:0001583	missense	0			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2660C>A	14.37:g.95662883G>T	ENSP00000298912:p.Ser887Tyr		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S887Y	ENST00000298912.4	37	c.2660	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953898	0.34471	.	.	ENSG00000165959	ENST00000298912	D	0.93133	-3.17	5.42	4.42	0.53409	.	0.000000	0.36200	N	0.002733	D	0.92916	0.7746	M	0.62723	1.935	0.80722	D	1	D	0.59767	0.986	P	0.53649	0.731	D	0.91723	0.5390	10	0.52906	T	0.07	.	6.1231	0.20164	0.1593:0.0:0.8407:0.0	.	887	Q96JQ2	CLMN_HUMAN	Y	887	ENSP00000298912:S887Y	ENSP00000298912:S887Y	S	-	2	0	CLMN	94732636	1.000000	0.71417	0.995000	0.50966	0.650000	0.38633	3.141000	0.50593	2.552000	0.86080	0.561000	0.74099	TCC	CLMN	-	NULL	ENSG00000165959		0.398	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2		0	58	0	G			95662883	-1			no_errors	ENST00000298912	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.996	T	T	95662883	G	T	95662883	3	4	14	1	0	0	0	0	1	0	0	0	3549	1174	41	3	364	3	CLMN	14	95662883	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1624592	95662883	11686657	197	4429											
EVL	51466	genome.wustl.edu	37	chr14	100603921	100603921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatgaactgacagaggctgGccggaagccctgggagcgga	12	4	16	9	2	0	3	0	2	0	1	0	6	0	6	2	5	3	1	2	5	3	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr14:100603921G>T	ENST00000402714.2	+	10	1569	c.965G>T	c.(964-966)gGc>gTc	p.G322V	EVL_ENST00000544450.2_Missense_Mutation_p.G328V|EVL_ENST00000392920.3_Missense_Mutation_p.G324V			Q9UI08	EVL_HUMAN	Enah/Vasp-like	322	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				ACAGAGGCTGGCCGGAAGCCC	0.602																																																	0													58	69	65					14																	100603921		2203	4300	6503	SO:0001583	missense	0			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.965G>T	14.37:g.100603921G>T	ENSP00000384720:p.Gly322Val		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1	p.G324V	ENST00000402714.2	37	c.971		14	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048717	0.36181	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470;ENST00000554695	T;T;T	0.68624	-0.34;-0.31;-0.33	4.73	4.73	0.59995	.	0.617718	0.15498	N	0.259192	T	0.56702	0.2003	L	0.35414	1.06	0.58432	D	0.999999	P;B;P	0.47191	0.761;0.441;0.891	B;B;B	0.40506	0.315;0.139;0.331	T	0.54892	-0.8225	10	0.16896	T	0.51	-2.9831	17.6886	0.88263	0.0:0.0:1.0:0.0	.	328;324;322	B7Z3I5;Q9UI08-2;Q9UI08	.;.;EVL_HUMAN	V	322;328;324;287;139	ENSP00000384720:G322V;ENSP00000437904:G328V;ENSP00000376652:G324V	ENSP00000376652:G324V	G	+	2	0	EVL	99673674	1.000000	0.71417	0.985000	0.45067	0.710000	0.40934	5.394000	0.66285	2.163000	0.67991	0.561000	0.74099	GGC	EVL	-	pirsf_Vasodilator_phosphoprotein	ENSG00000196405		0.602	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	HGNC	protein_coding	OTTHUMT00000413958.1	-	0	47	0	G			100603921	1	tier1	-	no_errors	ENST00000392920	ensembl	human	known	74_37	missense	30.00	42	18	SNP	0.998	T	T	100603921	G	T	100603921	3	4	14	1	0	0	0	0	1	0	0	0	5307	1203	42	3	1009	3	EVL	14	100603921	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	4941038	100603921	6745619	198	4430											
GABRG3	2567	genome.wustl.edu	37	chr15	27572012	27572012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatagtcgccttcgattCaacagcacaatgaaaattct	15	10	6	10	2	2	2	1	1	1	1	4	3	2	2	1	0	2	1	1	0	5	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr15:27572012C>A	ENST00000333743.6	+	4	581	c.327C>A	c.(325-327)ttC>ttA	p.F109L	GABRG3_ENST00000555083.1_Missense_Mutation_p.F109L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	109					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F109F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCTTCGATTCAACAGCACAA	0.423																																					NSCLC(114;800 1656 7410 37729 45293)												1	Substitution - coding silent(1)	kidney(1)											157	156	156					15																	27572012		1984	4196	6180	SO:0001583	missense	0				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.327C>A	15.37:g.27572012C>A	ENSP00000331912:p.Phe109Leu		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.F109L	ENST00000333743.6	37	c.327	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428026	0.83667	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	D;D;D	0.82167	-1.58;-1.58;-1.58	5.75	3.86	0.44501	Neurotransmitter-gated ion-channel ligand-binding (3);	0.052742	0.85682	D	0.000000	D	0.90215	0.6941	M	0.86178	2.8	0.42803	D	0.993933	P;P	0.51147	0.942;0.929	P;P	0.62435	0.902;0.702	D	0.91659	0.5341	10	0.87932	D	0	.	12.197	0.54303	0.0:0.86:0.0:0.14	.	109;109	Q99928;G3V594	GBRG3_HUMAN;.	L	109;109;51	ENSP00000331912:F109L;ENSP00000452244:F109L;ENSP00000451862:F51L	ENSP00000331912:F109L	F	+	3	2	GABRG3	25154758	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.437000	0.34991	1.435000	0.47434	0.650000	0.86243	TTC	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000182256		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2		0	27	0	C			27572012	1			no_errors	ENST00000333743	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	27572012	C	A	27572012	3	1	14	1	0	0	0	0	1	0	0	0	6197	825	29	3	341	3	GABRG3	15	27572012	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		27572012	74959380	199	4431											
C15orf55	256646	genome.wustl.edu	37	chr15	34648679	34648679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacagttgcggcagctGccctagaaaagagaaactat	14	6	12	9	1	0	2	0	0	0	2	0	4	0	2	1	2	4	4	1	2	5	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr15:34648679G>A	ENST00000333756.4	+	7	2541	c.2386G>A	c.(2386-2388)Gcc>Acc	p.A796T	NUTM1_ENST00000438749.3_Missense_Mutation_p.A814T|NUTM1_ENST00000537011.1_Missense_Mutation_p.A824T	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	796						cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGCGGCAGCTGCCCTAGAAAA	0.547																																																	0													51	54	53					15																	34648679		2201	4298	6499	SO:0001583	missense	0			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2386G>A	15.37:g.34648679G>A	ENSP00000329448:p.Ala796Thr		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	NULL	p.A796T	ENST00000333756.4	37	c.2386	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693508	0.48202	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.09445	2.98;2.98;2.99	4.94	2.98	0.34508	.	0.522665	0.17690	N	0.165301	T	0.08935	0.0221	L	0.39898	1.24	0.09310	N	1	B;B;B	0.24963	0.07;0.115;0.07	B;B;B	0.23419	0.021;0.046;0.021	T	0.21314	-1.0249	10	0.66056	D	0.02	.	5.8933	0.18925	0.1059:0.2126:0.6815:0.0	.	814;824;796	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	T	824;814;796	ENSP00000444896:A824T;ENSP00000407031:A814T;ENSP00000329448:A796T	ENSP00000329448:A796T	A	+	1	0	C15orf55	32435971	0.000000	0.05858	0.005000	0.12908	0.291000	0.27294	0.125000	0.15749	1.316000	0.45131	0.555000	0.69702	GCC	NUTM1	-	NULL	ENSG00000184507		0.547	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	HGNC	protein_coding	OTTHUMT00000418026.1	-	0	11	0	G	NM_175741		34648679	1	tier1	-	no_errors	ENST00000333756	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.008	A	A	34648679	G	A	34648679	3	1	14	1	0	0	0	0	1	0	0	0	1808	1319	46	3	2412	3	C15orf55	15	34648679	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7076667	34648679	67882713	200	4432											
SLTM	79811	genome.wustl.edu	37	chr15	59225696	59225696	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcgatgacccgcagatcGgtgatctttttaccttccgc	8	12	9	12	4	1	4	0	2	1	2	4	5	2	4	3	1	1	1	3	1	1	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr15:59225696G>T	ENST00000380516.2	-	1	156	c.69C>A	c.(67-69)acC>acA	p.T23T	SLTM_ENST00000536328.1_5'UTR|SLTM_ENST00000557950.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	23	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCGCAGATCGGTGATCTTTT	0.622																																																	0													40	35	37					15																	59225696		2192	4292	6484	SO:0001819	synonymous_variant	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.69C>A	15.37:g.59225696G>T			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.T23	ENST00000380516.2	37	c.69	CCDS10168.2	15																																																																																			SLTM	-	smart_SAP_dom,pfscan_SAP_dom	ENSG00000137776		0.622	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1		0	21	0	G	NM_024755		59225696	-1			no_errors	ENST00000380516	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.809	T	T	59225696	G	T	59225696	2	4	14	1	0	0	0	0	0	0	0	1	14799	1103	39	2		2	SLTM	15	59225696	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	24577017	59225696	43305696	201	4433											
TBC1D21	161514	genome.wustl.edu	37	chr15	74181427	74181427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggttcctcagacattaaaGgatttcttcctctgaggaca	11	13	8	9	0	3	2	1	1	2	1	5	4	5	4	2	3	0	1	2	3	3	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr15:74181427G>A	ENST00000300504.2	+	11	1079	c.996G>A	c.(994-996)aaG>aaA	p.K332K	TBC1D21_ENST00000535547.2_Silent_p.K296K|AC108137.1_ENST00000410132.1_RNA|TBC1D21_ENST00000562056.1_Silent_p.K295K	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	332						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						AGACATTAAAGGATTTCTTCC	0.527																																																	0													80	65	70					15																	74181427		2198	4297	6495	SO:0001819	synonymous_variant	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.996G>A	15.37:g.74181427G>A			B9A6M2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.K332	ENST00000300504.2	37	c.996	CCDS10252.1	15																																																																																			TBC1D21	-	NULL	ENSG00000167139		0.527	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	-	0	33	0	G	NM_153356		74181427	1	tier1	-	no_errors	ENST00000300504	ensembl	human	known	74_37	silent	32.26	21	10	SNP	0.860	A	A	74181427	G	A	74181427	2	1	14	1	0	0	0	0	0	0	0	1	15657	991	35	3		3	TBC1D21	15	74181427	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	14955731	74181427	28349965	202	4434											
POLG	5428	genome.wustl.edu	37	chr15	89869959	89869959	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcctcctcctcactgcaGgggccgaggtctgtgagggt	6	9	13	13	1	2	1	1	1	1	0	5	2	5	1	4	4	2	1	4	4	1	0	rs199856571		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr15:89869959G>T	ENST00000268124.5	-	9	1929	c.1596C>A	c.(1594-1596)ccC>ccA	p.P532P	POLG_ENST00000442287.2_Silent_p.P532P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	532					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCTCACTGCAGGGGCCGAGGT	0.602								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0													55	59	58					15																	89869959		2200	4299	6499	SO:0001819	synonymous_variant	0			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1596C>A	15.37:g.89869959G>T			Q8NFM2|Q92515	Silent	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.P532	ENST00000268124.5	37	c.1596	CCDS10350.1	15																																																																																			POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub	ENSG00000140521		0.602	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	-	0	32	0	G	NM_002693		89869959	-1	tier1	-	no_errors	ENST00000268124	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.190	T	T	89869959	G	T	89869959	2	4	14	1	0	0	0	0	0	0	0	1	12239	987	35	3		3	POLG	15	89869959	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	15688532	89869959	12661433	203	4435											
TPSAB1	7177	genome.wustl.edu	37	chr16	1291206	1291206	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggggtcaggaggccccCaggagcaagtggccctggca	7	4	18	12	1	1	0	1	0	0	0	2	2	1	2	3	7	1	2	3	7	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:1291206C>G	ENST00000338844.3	+	3	147	c.114C>G	c.(112-114)ccC>ccG	p.P38P	TPSAB1_ENST00000461509.2_Silent_p.P45P	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	38	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				AGGAGGCCCCCAGGAGCAAGT	0.706																																																	0													47	46	46					16																	1291206		2199	4300	6499	SO:0001819	synonymous_variant	0			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.114C>G	16.37:g.1291206C>G			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P38	ENST00000338844.3	37	c.114	CCDS10431.1	16																																																																																			TPSAB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000172236		0.706	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	-	0	108	0	C	NM_003294		1291206	1	tier1	-	no_errors	ENST00000338844	ensembl	human	known	74_37	silent	17.95	96	21	SNP	0.000	G	G	1291206	C	G	1291206	2	3	14	1	0	0	0	0	0	0	0	1	16471	581	21	5		5	TPSAB1	16	1291206	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		1291206	89063547	204	4436											
A2BP1	54715	genome.wustl.edu	37	chr16	7743345	7743345	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcttcgttgcagcagatGaaatttcttgtaacacctct	9	15	7	10	2	3	2	0	1	3	1	5	2	3	2	1	0	3	4	1	0	2	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:7743345G>T	ENST00000550418.1	+	15	1983				RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000355637.4_Nonsense_Mutation_p.E363*|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000547372.1_Nonsense_Mutation_p.E385*|RBFOX1_ENST00000552089.1_Nonsense_Mutation_p.E359*|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000535565.2_Nonsense_Mutation_p.E299*	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TGCAGCAGATGAAATTTCTTG	0.398																																					Ovarian(157;934 2567 15163 39509)												0													150	136	141					16																	7743345		2197	4300	6497	SO:0001627	intron_variant	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.996-15713G>T	16.37:g.7743345G>T			Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Nonsense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.E385*	ENST00000550418.1	37	c.1153	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.668283	0.98908	.	.	ENSG00000078328	ENST00000547372;ENST00000535565;ENST00000552089;ENST00000355637	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.521	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	385;299;359;363	.	ENSP00000347855:E363X	E	+	1	0	RBFOX1	7683346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.562000	0.82300	2.861000	0.98227	0.650000	0.86243	GAA	RBFOX1	-	pirsf_RNA-bd_Fox-1	ENSG00000078328		0.398	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2		0	34	0	G	NM_145891		7743345	1			no_errors	ENST00000547372	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	1.000	T	T	7743345	G	T	7743345	1	4	14	0	1	0	0	0	0	0	0	0	3	1291	45	3		3	A2BP1	16	7743345	Intron	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	6452139	7743345	82611408	205	4437											
CP110	9738	genome.wustl.edu	37	chr16	19547487	19547487	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacttagctagagattcaGaaggatttaattctccgaag	14	12	9	6	1	2	3	1	0	1	3	3	6	2	4	1	1	1	1	1	1	6	7			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:19547487G>T	ENST00000381396.5	+	4	743	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	CCP110_ENST00000396208.2_Nonsense_Mutation_p.E166*|CCP110_ENST00000396212.2_Nonsense_Mutation_p.E166*	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	166	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TAGAGATTCAGAAGGATTTAA	0.383																																																	0													93	99	97					16																	19547487		2197	4300	6497	SO:0001587	stop_gained	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.496G>T	16.37:g.19547487G>T	ENSP00000370803:p.Glu166*		B7WP23|O43335|Q68DV9|Q8NE13	Nonsense_Mutation	SNP	NULL	p.E166*	ENST00000381396.5	37	c.496	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.024786	0.97211	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	.	.	.	5.74	4.78	0.61160	.	0.249901	0.34750	N	0.003718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-13.5397	10.2806	0.43537	0.0702:0.1365:0.7933:0.0	.	.	.	.	X	166	.	ENSP00000370803:E166X	E	+	1	0	CCP110	19454988	0.998000	0.40836	0.154000	0.22540	0.994000	0.84299	3.045000	0.49838	1.409000	0.46915	-0.165000	0.13383	GAA	CCP110	-	NULL	ENSG00000103540		0.383	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	-	0	74	0	G	NM_014711		19547487	1	tier1	-	no_errors	ENST00000381396	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	0.504	T	T	19547487	G	T	19547487	4	4	14	1	0	0	0	0	0	1	0	0	3795	943	33	3	506	3	CP110	16	19547487	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	11804142	19547487	70807266	206	4438											
ZP2	7783	genome.wustl.edu	37	chr16	21212735	21212735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaagagtctggatccatgGtggacgtcgcccagcagtca	10	7	14	10	2	2	1	1	0	1	1	4	4	3	4	2	4	1	1	2	4	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:21212735G>T	ENST00000574002.1	-	15	2131	c.1649C>A	c.(1648-1650)aCc>aAc	p.T550N	ZP2_ENST00000574091.1_Missense_Mutation_p.T541N|ZP2_ENST00000219593.4_Missense_Mutation_p.T550N|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	550	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGGATCCATGGTGGACGTCGC	0.507																																																	0													177	156	163					16																	21212735		2200	4300	6500	SO:0001583	missense	0			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"Zona pellucida glycoproteins"	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1649C>A	16.37:g.21212735G>T	ENSP00000460971:p.Thr550Asn		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.T550N	ENST00000574002.1	37	c.1649	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679258	0.29783	.	.	ENSG00000103310	ENST00000219593	D	0.83250	-1.7	5.31	3.3	0.37823	Endoglin/CD105 antigen conserved site (1);Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.660209	0.14438	N	0.319576	T	0.80732	0.4679	L	0.54323	1.7	0.09310	N	1	P;B	0.37688	0.605;0.34	B;B	0.43018	0.405;0.215	T	0.69405	-0.5154	10	0.42905	T	0.14	-2.5764	7.8487	0.29442	0.1454:0.0:0.7226:0.132	.	541;550	Q4VAP1;Q05996	.;ZP2_HUMAN	N	550	ENSP00000219593:T550N	ENSP00000219593:T550N	T	-	2	0	ZP2	21120236	0.964000	0.33143	0.000000	0.03702	0.256000	0.26092	4.107000	0.57811	0.694000	0.31654	0.591000	0.81541	ACC	ZP2	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	ENSG00000103310		0.507	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	-	0	63	0	G			21212735	-1	tier1	-	no_errors	ENST00000219593	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.003	T	T	21212735	G	T	21212735	3	4	14	1	0	0	0	0	1	0	0	0	18264	1261	44	3	612	3	ZP2	16	21212735	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1665248	21212735	69142018	207	4439											
LAT	27040	genome.wustl.edu	37	chr16	28997469	28997469	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagacacggttgccccCtggccacctgcctacccacc	6	7	7	21	1	1	1	1	0	0	1	2	1	2	1	8	2	3	1	8	2	1	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:28997469C>A	ENST00000360872.5	+	4	255	c.177C>A	c.(175-177)ccC>ccA	p.P59P	LAT_ENST00000566177.1_Silent_p.P59P|LAT_ENST00000395461.3_Silent_p.P95P|LAT_ENST00000564277.1_Silent_p.P59P|RP11-264B17.3_ENST00000569969.1_RNA|RP11-264B17.5_ENST00000561471.1_RNA|LAT_ENST00000563964.1_Intron|LAT_ENST00000354453.4_Silent_p.P59P|LAT_ENST00000395456.2_Silent_p.P59P|LAT_ENST00000454369.2_Silent_p.P59P			O43561	LAT_HUMAN	linker for activation of T cells	59					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CGGTTGCCCCCTGGCCACCTG	0.607																																																	0													104	100	101					16																	28997469		2197	4300	6497	SO:0001819	synonymous_variant	0			AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"linker for activation of T cells, transmembrane adaptor"	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.177C>A	16.37:g.28997469C>A			B7WPI0|C7C5T6|G5E9K3|O43919	Silent	SNP	prints_Linker_for_activat_Tcells_prot	p.P95	ENST00000360872.5	37	c.285	CCDS10647.1	16																																																																																			LAT	-	NULL	ENSG00000213658		0.607	LAT-001	KNOWN	basic|CCDS	protein_coding	LAT	HGNC	protein_coding	OTTHUMT00000254688.2	-	0	41	0	C			28997469	1	tier1	-	no_errors	ENST00000395461	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.000	A	A	28997469	C	A	28997469	2	1	14	1	0	0	0	0	0	0	0	1	8672	668	24	3		3	LAT	16	28997469	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	7784734	28997469	61357284	208	4440											
ZNF423	23090	genome.wustl.edu	37	chr16	49670652	49670652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacagttatacttcttgCtgtgtgtggtgatgtggcac	7	16	11	7	0	1	1	0	1	1	0	1	1	1	1	0	2	3	3	0	2	3	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:49670652C>T	ENST00000561648.1	-	4	2464	c.2411G>A	c.(2410-2412)aGc>aAc	p.S804N	ZNF423_ENST00000567169.1_Missense_Mutation_p.S687N|ZNF423_ENST00000535559.1_Missense_Mutation_p.S687N|ZNF423_ENST00000562520.1_Missense_Mutation_p.S744N|ZNF423_ENST00000562871.1_Missense_Mutation_p.S744N|ZNF423_ENST00000262383.2_Missense_Mutation_p.S804N|ZNF423_ENST00000563137.2_Missense_Mutation_p.S744N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	804					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ATACTTCTTGCTGTGTGTGGT	0.572																																																	0													194	187	189					16																	49670652		2198	4300	6498	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2411G>A	16.37:g.49670652C>T	ENSP00000455426:p.Ser804Asn		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S804N	ENST00000561648.1	37	c.2411	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062308	0.76187	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.28255	1.62;1.62	4.81	4.81	0.61882	Zinc finger, C2H2 (1);	0.080279	0.85682	D	0.000000	T	0.41949	0.1181	N	0.25286	0.73	0.58432	D	0.99999	D	0.76494	0.999	D	0.78314	0.991	T	0.27157	-1.0082	9	.	.	.	-32.3298	17.8857	0.88854	0.0:1.0:0.0:0.0	.	804	Q2M1K9	ZN423_HUMAN	N	804;687	ENSP00000262383:S804N;ENSP00000442321:S687N	.	S	-	2	0	ZNF423	48228153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.234000	0.73211	0.561000	0.74099	AGC	ZNF423	-	pfscan_Znf_C2H2	ENSG00000102935		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	13	0	C	NM_015069		49670652	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	T	T	49670652	C	T	49670652	3	4	14	1	0	0	0	0	1	0	0	0	17946	797	28	3	1463	3	ZNF423	16	49670652	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	20673183	49670652	40684101	209	4441											
CDH5	1003	genome.wustl.edu	37	chr16	66426285	66426285	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcggctaggcatagcattGggtaagggggcgtgtgtcga	8	9	18	6	3	0	0	0	0	0	0	1	1	0	0	0	5	2	4	0	5	3	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:66426285G>T	ENST00000341529.3	+	7	1364	c.1216G>T	c.(1216-1218)Gga>Tga	p.G406*	CDH5_ENST00000563425.2_Missense_Mutation_p.G406W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCATAGCATTGGGTAAGGGGG	0.557																																																	0													83	84	84					16																	66426285		2201	4300	6501	SO:0001630	splice_region_variant	0			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1217+1G>T	16.37:g.66426285G>T			Q4VAI5|Q4VAI6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G406*	ENST00000341529.3	37	c.1216	CCDS10804.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.487660	0.96323	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	.	.	.	5.62	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6218	0.17461	0.3634:0.0:0.6366:0.0	.	.	.	.	X	406;147	.	ENSP00000344115:G406X	G	+	1	0	CDH5	64983786	0.991000	0.36638	0.976000	0.42696	0.561000	0.35649	2.557000	0.45871	1.340000	0.45581	0.655000	0.94253	GGA	CDH5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179776		0.557	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	HGNC	protein_coding	OTTHUMT00000268767.1		0	27	0	G	NM_001795	Nonsense_Mutation	66426285	1			no_errors	ENST00000341529	ensembl	human	known	74_37	nonsense	5.17	55	3	SNP	1.000	T	T	66426285	G	T	66426285	5	4	14	1	0	0	0	0	0	0	1	0	3120	1362	47	3	1238	3	CDH5	16	66426285	Splice_Site	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	16755633	66426285	23928468	210	4442											
EDC4	23644	genome.wustl.edu	37	chr16	67912946	67912946	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcctgctcacccacccTgtgctgagctttggtatcca	6	12	9	14	0	1	1	1	1	0	0	3	2	3	1	4	1	3	5	4	1	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:67912946T>C	ENST00000358933.5	+	12	1613	c.1374T>C	c.(1372-1374)ccT>ccC	p.P458P	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	458					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCACCCACCCTGTGCTGAGCT	0.597																																																	0													57	47	50					16																	67912946		2198	4300	6498	SO:0001819	synonymous_variant	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1374T>C	16.37:g.67912946T>C			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P458	ENST00000358933.5	37	c.1374	CCDS10849.1	16																																																																																			EDC4	-	NULL	ENSG00000038358		0.597	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0	19	0	T	NM_014329		67912946	1			no_errors	ENST00000358933	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.708	C	C	67912946	T	C	67912946	2	2	14	1	0	0	0	0	0	0	0	1	4922	1567	55	4		4	EDC4	16	67912946	Silent	SNP	T	TCGA-IC-A6RF-01A-13D-A33E-09	1486661	67912946	22441807	211	4443											
SLC7A6	9057	genome.wustl.edu	37	chr16	68308966	68308966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtcgggagccagctacGcttatattctagaggccttt	9	11	10	11	2	1	1	0	0	1	1	2	2	1	2	3	2	3	2	3	2	5	6	rs144583655		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:68308966G>T	ENST00000566454.1	+	4	606	c.337G>T	c.(337-339)Gct>Tct	p.A113S	SLC7A6_ENST00000219343.6_Missense_Mutation_p.A113S	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6									p.A113T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		AGCCAGCTACGCTTATATTCT	0.562																																																	1	Substitution - Missense(1)	endometrium(1)											105	102	103					16																	68308966		2198	4300	6498	SO:0001583	missense	0			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.337G>T	16.37:g.68308966G>T	ENSP00000455064:p.Ala113Ser			Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.A113S	ENST00000566454.1	37	c.337	CCDS32470.1	16	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912994	0.92178	.	.	ENSG00000103064	ENST00000219343;ENST00000379152	D;D	0.89196	-2.48;-2.48	5.76	5.76	0.90799	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92346	0.5885	10	0.37606	T	0.19	.	17.5215	0.87789	0.0:0.0:1.0:0.0	.	113	Q92536	YLAT2_HUMAN	S	113	ENSP00000219343:A113S;ENSP00000368448:A113S	ENSP00000219343:A113S	A	+	1	0	SLC7A6	66866467	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.653000	0.98506	2.718000	0.92993	0.650000	0.86243	GCT	SLC7A6	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000103064		0.562	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000432466.1		0	31	0	G	NM_003983		68308966	1			no_errors	ENST00000219343	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	68308966	G	T	68308966	3	4	14	1	0	0	0	0	1	0	0	0	14746	1087	38	2	339	2	SLC7A6	16	68308966	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	396020	68308966	22045787	212	4444											
CDH3	1001	genome.wustl.edu	37	chr16	68712181	68712181	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccccagagactgaatcagGtacgactgtgccttctcctg	8	10	9	14	1	2	2	1	1	1	1	4	4	3	2	4	1	2	1	4	1	2	2	rs370724082		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:68712181G>T	ENST00000264012.4	+	4	934		c.e4+1		CDH3_ENST00000581171.1_Splice_Site|CDH3_ENST00000429102.2_Splice_Site	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)						adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		ACTGAATCAGGTACGACTGTG	0.522																																																	2	Unknown(2)	breast(2)											93	89	91					16																	68712181		2198	4300	6498	SO:0001630	splice_region_variant	0			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.390+1G>T	16.37:g.68712181G>T			B2R6F4|Q05DI6	Splice_Site	SNP	-	e4+1	ENST00000264012.4	37	c.390+1	CCDS10868.1	16	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015887	0.54468	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8859	0.88854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH3	67269682	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	8.743000	0.91592	2.822000	0.97130	0.650000	0.86243	.	CDH3	-	-	ENSG00000062038		0.522	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	-	0	29	0	G	NM_001793	Intron	68712181	1	tier1	-	no_errors	ENST00000264012	ensembl	human	known	74_37	splice_site	8.33	43	4	SNP	1.000	T	T	68712181	G	T	68712181	5	4	14	1	0	0	0	0	0	0	1	0	3118	1275	44	3	405	3	CDH3	16	68712181	Splice_Site	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	403215	68712181	21642572	213	4445											
FUK	197258	genome.wustl.edu	37	chr16	70504248	70504248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagctacagctacatGacctcctcagccagtgagtt	10	8	10	13	1	1	2	1	2	0	0	2	2	2	2	3	1	6	4	3	1	2	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:70504248G>T	ENST00000288078.6	+	11	1219	c.987G>T	c.(985-987)atG>atT	p.M329I	FUK_ENST00000378912.2_Missense_Mutation_p.M361I|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	329						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ACAGCTACATGACCTCCTCAG	0.622																																																	0													103	116	111					16																	70504248		2103	4218	6321	SO:0001583	missense	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.987G>T	16.37:g.70504248G>T	ENSP00000288078:p.Met329Ile		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.M361I	ENST00000288078.6	37	c.1083	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160415	0.57368	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.26660	1.72;1.72	5.74	5.74	0.90152	L-fucokinase (1);	0.173402	0.53938	D	0.000046	T	0.30417	0.0764	M	0.61703	1.905	0.80722	D	1	B;B	0.21821	0.056;0.061	B;B	0.24848	0.056;0.056	T	0.05321	-1.0892	10	0.20519	T	0.43	-21.9916	17.7061	0.88310	0.0:0.0:1.0:0.0	.	361;329	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	I	329;361	ENSP00000288078:M329I;ENSP00000368192:M361I	ENSP00000288078:M329I	M	+	3	0	FUK	69061749	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.538000	0.53597	2.723000	0.93209	0.655000	0.94253	ATG	FUK	-	pfam_Fucokinase	ENSG00000157353		0.622	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2		0	19	0	G	NM_145059		70504248	1			no_errors	ENST00000378912	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	70504248	G	T	70504248	3	4	14	1	0	0	0	0	1	0	0	0	6120	1290	45	3	1025	3	FUK	16	70504248	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1792067	70504248	19850505	214	4446											
ATP2C2	9914	genome.wustl.edu	37	chr16	84485637	84485637	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtccaggttctctccGagtctggtgtgtctgtgaag	7	12	13	9	1	3	1	0	1	3	0	6	2	5	1	2	2	1	2	2	2	2	1	rs199755716		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr16:84485637G>T	ENST00000262429.4	+	18	1860	c.1771G>T	c.(1771-1773)Gag>Tag	p.E591*	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Nonsense_Mutation_p.E591*	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	591					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGTTCTCTCCGAGTCTGGTGT	0.612																																																	0													75	82	80					16																	84485637		2020	4184	6204	SO:0001587	stop_gained	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"ATPases / P-type"	29103	protein-coding gene	gene with protein product	"secretory pathway calcium ATPase 2"	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1771G>T	16.37:g.84485637G>T	ENSP00000262429:p.Glu591*		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.E591*	ENST00000262429.4	37	c.1771	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.632760	0.96682	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	.	.	.	4.97	1.85	0.25348	.	0.271259	0.30227	N	0.010104	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	7.4519	0.27244	0.1577:0.1441:0.6981:0.0	.	.	.	.	X	591;591;440	.	ENSP00000262429:E591X	E	+	1	0	ATP2C2	83043138	0.070000	0.21116	0.000000	0.03702	0.592000	0.36648	1.390000	0.34464	0.491000	0.27793	0.491000	0.48974	GAG	ATP2C2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000064270		0.612	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	-	0	40	0	G	NM_014861		84485637	1	tier1	-	no_errors	ENST00000262429	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.000	T	T	84485637	G	T	84485637	4	4	14	1	0	0	0	0	0	1	0	0	1145	1059	37	2	1841	2	ATP2C2	16	84485637	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	13981389	84485637	5869116	215	4447											
CRK	1398	genome.wustl.edu	37	chr17	1340045	1340045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatagggcccaggctccgGcccacccagtggctgtgggt	5	6	16	14	1	0	0	0	0	0	0	1	0	1	0	4	6	0	3	4	6	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:1340045G>T	ENST00000300574.2	-	2	786	c.646C>A	c.(646-648)Ccg>Acg	p.P216T	CRK_ENST00000398970.5_Intron|CRK_ENST00000572145.1_Intron|CRK_ENST00000574295.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	216					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)	p.P216S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CCAGGCTCCGGCCCACCCAGT	0.597																																																	1	Substitution - Missense(1)	prostate(1)											66	65	65					17																	1340045		2203	4300	6503	SO:0001583	missense	0			D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"SH2 domain containing"	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.646C>A	17.37:g.1340045G>T	ENSP00000300574:p.Pro216Thr		A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.P216T	ENST00000300574.2	37	c.646	CCDS11002.1	17	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254105	0.39896	.	.	ENSG00000167193	ENST00000300574	T	0.41065	1.01	6.04	6.04	0.98038	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.40398	0.1115	L	0.55990	1.75	0.80722	D	1	B	0.12013	0.005	B	0.17722	0.019	T	0.25117	-1.0141	10	0.11794	T	0.64	-6.269	18.073	0.89417	0.0:0.0:1.0:0.0	.	216	P46108	CRK_HUMAN	T	216	ENSP00000300574:P216T	ENSP00000300574:P216T	P	-	1	0	CRK	1286795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.743000	0.62110	2.873000	0.98535	0.561000	0.74099	CCG	CRK	-	superfamily_SH3_domain	ENSG00000167193		0.597	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRK	HGNC	protein_coding	OTTHUMT00000206679.1		0	33	0	G	NM_016823		1340045	-1			no_errors	ENST00000300574	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	1340045	G	T	1340045	3	4	14	1	0	0	0	0	1	0	0	0	3891	1203	42	3	276	3	CRK	17	1340045	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		1340045	79855165	216	4448											
MYO1C	4641	genome.wustl.edu	37	chr17	1386153	1386153	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctctccctgcccctcAcctccagcaccgggttgctc	3	10	8	20	1	2	0	1	0	1	0	6	0	4	0	6	2	3	4	6	2	0	2	rs115519639	byFrequency	TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:1386153A>C	ENST00000575158.1	-	4	618		c.e4+1		MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000545534.2_Splice_Site|MYO1C_ENST00000359786.5_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000438665.2_Splice_Site			Q12965	MYO1E_HUMAN	myosin IC						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGCCCCTCACCTCCAGCAC	0.682																																																	0													17	18	18					17																	1386153		2198	4282	6480	SO:0001630	splice_region_variant	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.441+1T>G	17.37:g.1386153A>C			Q14778	Splice_Site	SNP	-	e4+2	ENST00000575158.1	37	c.546+2	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910766	0.52439	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.558	0.68115	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO1C	1332903	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	9.270000	0.95690	2.032000	0.59987	0.334000	0.21626	.	MYO1C	-	-	ENSG00000197879		0.682	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2		0	17	0	A		Intron	1386153	-1			no_errors	ENST00000359786	ensembl	human	known	74_37	splice_site	17.86	23	5	SNP	1.000	C	C	1386153	A	C	1386153	5	2	14	1	0	0	0	0	0	0	1	0	10108	173	6	4	2759	4	MYO1C	17	1386153	Splice_Site	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	46108	1386153	79809057	217	4449											
PFAS	5198	genome.wustl.edu	37	chr17	8172309	8172309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccggaactccaagctcaGattgaggccaggggcttggc	8	8	13	12	1	2	2	1	1	1	1	4	3	3	3	3	5	2	2	3	5	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:8172309G>T	ENST00000314666.6	+	28	3877	c.3744G>T	c.(3742-3744)caG>caT	p.Q1248H	PFAS_ENST00000545834.1_Missense_Mutation_p.Q824H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1248	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TCCAAGCTCAGATTGAGGCCA	0.597																																																	0													84	86	85					17																	8172309		2203	4300	6503	SO:0001583	missense	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3744G>T	17.37:g.8172309G>T	ENSP00000313490:p.Gln1248His		A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.Q1248H	ENST00000314666.6	37	c.3744	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382216	0.24944	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.31769	1.48;2.22	5.48	2.41	0.29592	Glutamine amidotransferase type 1 (1);	0.428115	0.23706	N	0.045361	T	0.19685	0.0473	L	0.33753	1.03	0.23972	N	0.996304	B	0.15719	0.014	B	0.17098	0.017	T	0.15636	-1.0430	10	0.72032	D	0.01	-11.8135	4.0713	0.09884	0.2457:0.0:0.5817:0.1726	.	1248	O15067	PUR4_HUMAN	H	824;1248;657	ENSP00000441706:Q824H;ENSP00000313490:Q1248H	ENSP00000313490:Q1248H	Q	+	3	2	PFAS	8113034	0.981000	0.34729	1.000000	0.80357	0.756000	0.42949	0.497000	0.22514	1.307000	0.44944	0.563000	0.77884	CAG	PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.597	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	-	0	38	0	G			8172309	1	tier1	-	no_errors	ENST00000314666	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.983	T	T	8172309	G	T	8172309	3	4	14	1	0	0	0	0	1	0	0	0	11793	933	33	3	3850	3	PFAS	17	8172309	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	6786156	8172309	73022901	218	4450											
DNAH9	1770	genome.wustl.edu	37	chr17	11711078	11711078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcgcatcttggagtcccCgcggggaaatgctctgctgg	7	9	13	12	3	2	0	0	0	2	0	4	2	3	2	2	4	2	3	2	4	2	1	rs370070428		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:11711078C>A	ENST00000262442.4	+	44	8518	c.8450C>A	c.(8449-8451)cCg>cAg	p.P2817Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2817Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2817	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGGAGTCCCCGCGGGGAAAT	0.512																																																	0													95	87	90					17																	11711078		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8450C>A	17.37:g.11711078C>A	ENSP00000262442:p.Pro2817Gln		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P2817Q	ENST00000262442.4	37	c.8450	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162343	0.78226	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.58940	0.3;0.3	5.52	5.52	0.82312	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.058549	0.64402	D	0.000001	D	0.84009	0.5378	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88605	0.3152	10	0.87932	D	0	.	19.4865	0.95030	0.0:1.0:0.0:0.0	.	2817	Q9NYC9	DYH9_HUMAN	Q	2817;2817;1399	ENSP00000262442:P2817Q;ENSP00000414874:P2817Q	ENSP00000262442:P2817Q	P	+	2	0	DNAH9	11651803	1.000000	0.71417	0.912000	0.35992	0.755000	0.42902	6.017000	0.70805	2.605000	0.88082	0.644000	0.83932	CCG	DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	25	0	C	NM_001372		11711078	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.999	A	A	11711078	C	A	11711078	3	1	14	1	0	0	0	0	1	0	0	0	4622	652	23	2	8624	2	DNAH9	17	11711078	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3538769	11711078	69484132	219	4451											
G6PC3	92579	genome.wustl.edu	37	chr17	42153360	42153360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctggccctcgtgccctgGgcagtgcacatgttcagtgc	4	10	13	14	1	1	0	1	0	0	0	3	0	2	0	3	2	3	3	3	2	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:42153360G>T	ENST00000269097.4	+	6	1221	c.990G>T	c.(988-990)tgG>tgT	p.W330C		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	330					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucose-6-phosphatase activity (GO:0004346)			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCGTGCCCTGGGCAGTGCACA	0.572																																																	0													134	125	128					17																	42153360		2203	4300	6503	SO:0001583	missense	0			BC021574	CCDS11476.1	17q21.31	2014-09-17				ENSG00000141349			24861	protein-coding gene	gene with protein product		611045				12370122, 12965222	Standard	NM_138387		Approved	UGRP	uc002iex.3	Q9BUM1		ENST00000269097.4:c.990G>T	17.37:g.42153360G>T	ENSP00000269097:p.Trp330Cys		Q8WU15	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase	p.W330C	ENST00000269097.4	37	c.990	CCDS11476.1	17	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800192	0.31869	.	.	ENSG00000141349	ENST00000269097	D	0.82711	-1.64	5.18	5.18	0.71444	.	0.064016	0.64402	D	0.000004	D	0.85517	0.5715	L	0.46157	1.445	0.58432	D	0.999997	D	0.76494	0.999	D	0.64321	0.924	D	0.84987	0.0892	10	0.52906	T	0.07	0.1863	9.5843	0.39506	0.0926:0.0:0.9074:0.0	.	330	Q9BUM1	G6PC3_HUMAN	C	330	ENSP00000269097:W330C	ENSP00000269097:W330C	W	+	3	0	G6PC3	39508886	1.000000	0.71417	0.964000	0.40570	0.178000	0.23041	1.624000	0.37018	2.701000	0.92244	0.655000	0.94253	TGG	G6PC3	-	pirsf_Glucose-6-phosphatase	ENSG00000141349		0.572	G6PC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G6PC3	HGNC	protein_coding	OTTHUMT00000457675.1	-	0	33	0	G	NM_138387		42153360	1	tier1	-	no_errors	ENST00000269097	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.926	T	T	42153360	G	T	42153360	3	4	14	1	0	0	0	0	1	0	0	0	6169	1241	43	3	1012	3	G6PC3	17	42153360	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	30442282	42153360	39041850	220	4452											
ITGB3	3690	genome.wustl.edu	37	chr17	45369758	45369758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcagaggaggactatcGcccttcccagcaggacgaat	10	7	12	12	2	1	1	1	0	0	1	3	5	2	4	2	3	2	2	2	3	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:45369758G>T	ENST00000559488.1	+	10	1530	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	ITGB3_ENST00000560629.1_Silent_p.S493S|ITGB3_ENST00000435993.2_Missense_Mutation_p.R458L	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	505	Cysteine-rich tandem repeats.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.R458H(1)|p.R505H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	GAGGACTATCGCCCTTCCCAG	0.627																																																	2	Substitution - Missense(2)	lung(2)											96	82	87					17																	45369758		2203	4300	6503	SO:0001583	missense	0				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1514G>T	17.37:g.45369758G>T	ENSP00000452786:p.Arg505Leu		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R505L	ENST00000559488.1	37	c.1514	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612752	0.28712	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.90133	-2.62	5.38	1.08	0.20341	.	0.692467	0.15621	N	0.252910	T	0.76962	0.4061	N	0.04880	-0.145	0.23542	N	0.997454	B	0.28667	0.219	B	0.24006	0.05	T	0.66432	-0.5925	10	0.40728	T	0.16	.	8.848	0.35181	0.384:0.0:0.616:0.0	.	505	P05106	ITB3_HUMAN	L	505;458	ENSP00000407801:R458L	ENSP00000262017:R505L	R	+	2	0	C17orf57	42724757	0.000000	0.05858	0.304000	0.25085	0.884000	0.51177	-0.166000	0.09954	0.258000	0.21686	0.462000	0.41574	CGC	ITGB3	-	pirsf_Integrin_bsu	ENSG00000259207		0.627	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3		0	14	0	G	NM_000212		45369758	1			no_errors	ENST00000559488	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.493	T	T	45369758	G	T	45369758	3	4	14	1	0	0	0	0	1	0	0	0	7922	1087	38	2	1552	2	ITGB3	17	45369758	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	3216398	45369758	35825452	221	4453											
SAMD14	201191	genome.wustl.edu	37	chr17	48191301	48191301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacccacctttagtttgcttCcgtccagctgcagcagctgc	6	11	9	15	1	0	0	0	0	0	0	2	1	2	0	4	0	6	6	4	0	1	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:48191301C>T	ENST00000330175.4	-	9	1402	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	SAMD14_ENST00000503131.1_Missense_Mutation_p.G390E|SAMD14_ENST00000503734.1_5'Flank	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	362	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.							p.G390E(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TAGTTTGCTTCCGTCCAGCTG	0.572																																																	1	Substitution - Missense(1)	breast(1)											50	49	50					17																	48191301		2203	4300	6503	SO:0001583	missense	0				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.1085G>A	17.37:g.48191301C>T	ENSP00000329144:p.Gly362Glu		A5D8V1|Q8N2X0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.G390E	ENST00000330175.4	37	c.1169	CCDS58562.1	17	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374582	0.61735	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	D;D;D	0.82803	-1.65;-1.65;-1.65	5.02	5.02	0.67125	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.081868	0.48767	D	0.000169	D	0.87422	0.6173	L	0.39085	1.19	0.50171	D	0.999859	D;D	0.89917	1.0;1.0	D;D	0.85130	0.989;0.997	D	0.88873	0.3334	10	0.72032	D	0.01	-7.3806	17.1353	0.86737	0.0:1.0:0.0:0.0	.	362;390	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	E	362;374;390	ENSP00000329144:G362E;ENSP00000285206:G374E;ENSP00000424474:G390E	ENSP00000285206:G374E	G	-	2	0	SAMD14	45546300	1.000000	0.71417	0.996000	0.52242	0.247000	0.25773	7.360000	0.79487	2.340000	0.79590	0.462000	0.41574	GGA	SAMD14	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000167100		0.572	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD14	HGNC	protein_coding	OTTHUMT00000366661.1	-	0	47	0	C	NM_174920		48191301	-1	tier1	-	no_errors	ENST00000503131	ensembl	human	known	74_37	missense	35.38	42	23	SNP	1.000	T	T	48191301	C	T	48191301	3	4	14	1	0	0	0	0	1	0	0	0	13864	855	30	3	176	3	SAMD14	17	48191301	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	2821543	48191301	33003909	222	4454											
KIF2B	84643	genome.wustl.edu	37	chr17	51900977	51900977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacatgatcgaagagtatCgcaggcacctggacagcagc	12	6	12	11	2	0	2	0	1	0	1	2	4	0	3	1	2	3	5	1	2	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:51900977C>T	ENST00000268919.4	+	1	739	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	195					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGAAGAGTATCGCAGGCACCT	0.577																																																	0													75	63	67					17																	51900977		2203	4300	6503	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.583C>T	17.37:g.51900977C>T	ENSP00000268919:p.Arg195Cys		Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R195C	ENST00000268919.4	37	c.583	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341723	0.61073	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.18338	2.22	5.37	5.37	0.77165	.	0.000000	0.51477	D	0.000095	T	0.41096	0.1144	M	0.68317	2.08	0.47659	D	0.999481	D	0.89917	1.0	D	0.87578	0.998	T	0.13282	-1.0515	10	0.62326	D	0.03	.	15.6128	0.76740	0.0:0.8624:0.1376:0.0	.	195	Q8N4N8	KIF2B_HUMAN	C	195;118	ENSP00000268919:R195C	ENSP00000268919:R195C	R	+	1	0	KIF2B	49255976	1.000000	0.71417	0.968000	0.41197	0.781000	0.44180	2.293000	0.43558	2.659000	0.90383	0.655000	0.94253	CGC	KIF2B	-	superfamily_P-loop_NTPase	ENSG00000141200		0.577	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0	28	0	C	NM_032559		51900977	1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	T	T	51900977	C	T	51900977	3	4	14	1	0	0	0	0	1	0	0	0	8325	884	31	1	585	1	KIF2B	17	51900977	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3709676	51900977	29294233	223	4455											
MFSD11	79157	genome.wustl.edu	37	chr17	74738327	74738327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcattgggagaaacagtGggattttctgggcacttctg	10	11	13	7	0	2	1	0	0	2	1	2	3	2	2	0	3	2	2	0	3	1	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:74738327G>T	ENST00000588460.1	+	5	2451	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	MFSD11_ENST00000590514.1_Missense_Mutation_p.G137W|MFSD11_ENST00000355954.3_Intron|MFSD11_ENST00000336509.4_Missense_Mutation_p.G137W|MFSD11_ENST00000593181.1_Intron|MFSD11_ENST00000586622.1_Missense_Mutation_p.G137W	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	137						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						GAGAAACAGTGGGATTTTCTG	0.388																																																	0													149	151	151					17																	74738327		2203	4300	6503	SO:0001583	missense	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.409G>T	17.37:g.74738327G>T	ENSP00000464932:p.Gly137Trp		O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G137W	ENST00000588460.1	37	c.409	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672487	0.88348	.	.	ENSG00000092931	ENST00000336509	D	0.85339	-1.97	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94205	0.8140	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94670	0.7856	10	0.87932	D	0	-13.1589	19.9326	0.97124	0.0:0.0:1.0:0.0	.	137	O43934	MFS11_HUMAN	W	137	ENSP00000337240:G137W	ENSP00000337240:G137W	G	+	1	0	MFSD11	72249922	1.000000	0.71417	0.989000	0.46669	0.992000	0.81027	9.471000	0.97696	2.720000	0.93068	0.650000	0.86243	GGG	MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.388	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	-	0	36	0	G	NM_024311		74738327	1	tier1	-	no_errors	ENST00000336509	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	74738327	G	T	74738327	3	4	14	1	0	0	0	0	1	0	0	0	9567	1348	47	3	427	3	MFSD11	17	74738327	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	22837350	74738327	6456883	224	4456											
RNF213	57674	genome.wustl.edu	37	chr17	78350691	78350691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcagcatgcttttCttccaaccatgcctgaagac	8	16	6	11	0	2	2	1	1	1	1	3	2	3	2	3	0	4	3	3	0	2	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr17:78350691C>A	ENST00000582970.1	+	53	13581	c.13438C>A	c.(13438-13440)Ctt>Att	p.L4480I	RNF213_ENST00000508628.2_Missense_Mutation_p.L4529I|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.L2553I|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4480					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCATGCTTTTCTTCCAACCAT	0.527																																																	0													104	96	99					17																	78350691		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13438C>A	17.37:g.78350691C>A	ENSP00000464087:p.Leu4480Ile		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L4480I	ENST00000582970.1	37	c.13438	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995323	0.54147	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.32753	1.44	5.09	5.09	0.68999	.	0.000000	0.64402	D	0.000002	T	0.56731	0.2005	M	0.73598	2.24	0.29200	N	0.875256	D;D	0.71674	0.998;0.991	D;P	0.69824	0.966;0.813	T	0.56384	-0.7988	10	0.49607	T	0.09	.	18.5058	0.90897	0.0:1.0:0.0:0.0	.	4529;2553	C9JCP4;Q63HN8	.;RN213_HUMAN	I	4480;4529;2553	ENSP00000338218:L2553I	ENSP00000338218:L2553I	L	+	1	0	RNF213	75965286	0.998000	0.40836	0.927000	0.36925	0.337000	0.28794	1.966000	0.40481	2.357000	0.79964	0.561000	0.74099	CTT	RNF213	-	NULL	ENSG00000173821		0.527	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	23	0	C	NM_020914		78350691	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	A	A	78350691	C	A	78350691	3	1	14	1	0	0	0	0	1	0	0	0	13522	913	32	3	13963	3	RNF213	17	78350691	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	3612364	78350691	2844519	225	4457											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14851558	14851558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttcatgaaaattgcatGttgaaaaaggaaattgccat	15	13	7	6	0	2	2	1	2	1	0	2	3	2	3	1	1	2	2	1	1	5	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr18:14851558G>T	ENST00000358984.4	+	36	3438	c.3258G>T	c.(3256-3258)atG>atT	p.M1086I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1086										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAATTGCATGTTGAAAAAGG	0.308																																																	0													5	8	7					18																	14851558		673	1521	2194	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3258G>T	18.37:g.14851558G>T	ENSP00000351875:p.Met1086Ile		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1086I	ENST00000358984.4	37	c.3258	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	G	2.833	-0.242132	0.05906	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.15017	2.46	1.48	1.48	0.22813	.	.	.	.	.	T	0.11239	0.0274	L	0.42245	1.32	0.09310	N	0.999997	P;P	0.46020	0.797;0.871	B;B	0.34722	0.064;0.188	T	0.20371	-1.0277	9	0.46703	T	0.11	.	5.7324	0.18047	0.0:0.3445:0.6555:0.0	.	1171;1086	Q9BXX2;F8WAG3	AN30B_HUMAN;.	I	1086;480;506	ENSP00000351875:M1086I	ENSP00000277669:M506I	M	+	3	0	ANKRD30B	14841558	0.019000	0.18553	0.645000	0.29479	0.343000	0.28985	-0.448000	0.06820	1.139000	0.42245	0.173000	0.16961	ATG	ANKRD30B	-	NULL	ENSG00000180777		0.308	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	45	0	G	NM_001145029		14851558	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	5.88	63	4	SNP	0.930	T	T	14851558	G	T	14851558	3	4	14	1	0	0	0	0	1	0	0	0	659	1377	48	3	3400	3	ANKRD30B	18	14851558	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		14851558	63225690	226	4458											
CDH7	1005	genome.wustl.edu	37	chr18	63511205	63511205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccctgtgttctcttcacCcttgtaccctatggaggtgt	4	14	9	14	0	2	0	1	0	1	0	3	1	2	1	4	2	1	2	4	2	2	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr18:63511205C>T	ENST00000397968.2	+	7	1565	c.1139C>T	c.(1138-1140)cCc>cTc	p.P380L	CDH7_ENST00000323011.3_Missense_Mutation_p.P380L|CDH7_ENST00000536984.2_Missense_Mutation_p.P380L	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCTCTTCACCCTTGTACCCT	0.507																																																	0													182	151	162					18																	63511205		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1139C>T	18.37:g.63511205C>T	ENSP00000381058:p.Pro380Leu		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P380L	ENST00000397968.2	37	c.1139	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669587	0.29693	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.60920	0.15;0.15;0.15	4.97	3.1	0.35709	Cadherin (2);Cadherin-like (1);	0.209904	0.39475	N	0.001342	T	0.47322	0.1439	L	0.50993	1.605	0.37177	D	0.903317	B;B	0.22604	0.001;0.072	B;B	0.20577	0.003;0.03	T	0.51702	-0.8672	10	0.42905	T	0.14	.	7.7976	0.29156	0.0:0.5469:0.3532:0.0999	.	380;380	F5H5X9;Q9ULB5	.;CADH7_HUMAN	L	380	ENSP00000319166:P380L;ENSP00000443030:P380L;ENSP00000381058:P380L	ENSP00000319166:P380L	P	+	2	0	CDH7	61662185	0.068000	0.21057	0.011000	0.14972	0.839000	0.47603	1.779000	0.38624	1.296000	0.44742	0.655000	0.94253	CCC	CDH7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000081138		0.507	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	90	0	C	NM_033646		63511205	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	23.08	80	24	SNP	0.325	T	T	63511205	C	T	63511205	3	4	14	1	0	0	0	0	1	0	0	0	3122	623	22	3	1161	3	CDH7	18	63511205	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	48659647	63511205	14566043	227	4459											
JSRP1	126306	genome.wustl.edu	37	chr19	2252589	2252589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcggcttctccttccgCggcttcccctctctccgagg	1	12	9	19	5	2	0	0	0	2	0	8	1	6	0	6	3	0	2	6	3	0	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:2252589C>T	ENST00000300961.6	-	7	799	c.735G>A	c.(733-735)ccG>ccA	p.P245P	JSRP1_ENST00000586471.2_Silent_p.P245P|MIR4321_ENST00000592276.1_RNA	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	245	Arg-rich.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTTCCGCGGCTTCCCCT	0.701																																																	0													34	43	40					19																	2252589		2199	4298	6497	SO:0001819	synonymous_variant	0			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.735G>A	19.37:g.2252589C>T				Silent	SNP	NULL	p.P245	ENST00000300961.6	37	c.735	CCDS12086.1	19																																																																																			JSRP1	-	NULL	ENSG00000167476		0.701	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JSRP1	HGNC	protein_coding	OTTHUMT00000451266.2	-	0	44	0	C	NM_144616		2252589	-1	tier1	-	no_errors	ENST00000300961	ensembl	human	known	74_37	silent	30.91	38	17	SNP	0.000	T	T	2252589	C	T	2252589	2	4	14	1	0	0	0	0	0	0	0	1	7993	755	27	1		1	JSRP1	19	2252589	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		2252589	56876394	228	4460											
PIAS4	51588	genome.wustl.edu	37	chr19	4033481	4033481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcccacctgcagtgcttcGacgccgtcttctacctgcag	5	10	10	16	3	2	0	0	0	2	0	3	1	2	0	4	0	5	3	4	0	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:4033481G>A	ENST00000262971.2	+	9	1160	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	349					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGTGCTTCGACGCCGTCTT	0.657																																																	0													39	34	35					19																	4033481		2189	4293	6482	SO:0001583	missense	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1045G>A	19.37:g.4033481G>A	ENSP00000262971:p.Asp349Asn		O75926|Q96G19|Q9UN16	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.D349N	ENST00000262971.2	37	c.1045	CCDS12118.1	19	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704638	0.88924	.	.	ENSG00000105229	ENST00000262971	T	0.17054	2.3	4.21	3.14	0.36123	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (2);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.66300	-0.5958	10	0.87932	D	0	-24.5098	12.1986	0.54311	0.0:0.0:0.828:0.172	.	349	Q8N2W9	PIAS4_HUMAN	N	349	ENSP00000262971:D349N	ENSP00000262971:D349N	D	+	1	0	PIAS4	3984481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.755000	0.98912	0.734000	0.32515	0.561000	0.74099	GAC	PIAS4	-	pfam_Znf_MIZ,pfscan_Znf_MIZ	ENSG00000105229		0.657	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	HGNC	protein_coding	OTTHUMT00000457496.1	-	0	37	0	G	NM_015897		4033481	1	tier1	-	no_errors	ENST00000262971	ensembl	human	known	74_37	missense	16.95	47	10	SNP	1.000	A	A	4033481	G	A	4033481	3	1	14	1	0	0	0	0	1	0	0	0	11917	1058	37	1	1079	1	PIAS4	19	4033481	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1780892	4033481	55095502	229	4461											
SMARCA4	6597	genome.wustl.edu	37	chr19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagtcctccagccatgagCggcgcgccttcctgcaggcc	7	6	12	16	3	0	2	0	1	0	1	3	2	3	2	6	2	3	1	6	2	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:11144146C>T	ENST00000429416.3	+	27	4008	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1243	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1243W(3)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCCATGAGCGGCGCGCCTT	0.637			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	4	Substitution - Missense(3)|Unknown(1)	kidney(2)|lung(1)|central_nervous_system(1)											86	86	86					19																	11144146		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3727C>T	19.37:g.11144146C>T	ENSP00000395654:p.Arg1243Trp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.R1243W	ENST00000429416.3	37	c.3727	CCDS12253.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	SMARCA4|SMARCA4	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG	SMARCA4	-	pfscan_Helicase_C	ENSG00000127616		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	35	0	C	NM_003072		11144146	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	31.91	32	15	SNP	0.997	T	T	11144146	C	T	11144146	3	4	14	1	0	0	0	0	1	0	0	0	14815	759	27	1	3825	1	SMARCA4	19	11144146	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	7110665	11144146	47984837	230	4462											
ZNF441	126068	genome.wustl.edu	37	chr19	11889180	11889180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgatatagaagaagatCagtacaaagatctcagaaga	20	8	8	5	0	3	7	3	1	1	6	4	7	3	7	0	0	1	1	0	0	7	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:11889180C>A	ENST00000357901.4	+	3	268	c.166C>A	c.(166-168)Cag>Aag	p.Q56K	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	56	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAAGAAGATCAGTACAAAGA	0.279																																																	0													59	52	54					19																	11889180		692	1591	2283	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.166C>A	19.37:g.11889180C>A	ENSP00000350576:p.Gln56Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q56K	ENST00000357901.4	37	c.166	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	g	3.376	-0.127393	0.06753	.	.	ENSG00000197044	ENST00000409902;ENST00000357901	T	0.05580	3.42	1.65	-3.12	0.05282	Krueppel-associated box (3);	.	.	.	.	T	0.02848	0.0085	N	0.12182	0.205	0.20196	N	0.999923	B	0.02656	0.0	B	0.01281	0.0	T	0.47005	-0.9150	9	0.19590	T	0.45	.	4.861	0.13583	0.227:0.3251:0.4479:0.0	.	56	Q8N8Z8	ZN441_HUMAN	K	12;56	ENSP00000350576:Q56K	ENSP00000350576:Q56K	Q	+	1	0	ZNF441	11750180	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.512000	0.06313	-0.619000	0.05648	-2.085000	0.00377	CAG	ZNF441	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197044		0.279	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	-	0	65	0	C	NM_152355		11889180	1	tier1	-	no_errors	ENST00000357901	ensembl	human	known	74_37	missense	29.89	61	26	SNP	0.002	A	A	11889180	C	A	11889180	3	1	14	1	0	0	0	0	1	0	0	0	17962	827	29	3	176	3	ZNF441	19	11889180	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	745034	11889180	47239803	231	4463											
JUNB	3726	genome.wustl.edu	37	chr19	12903518	12903518	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagaacgcggggctgtcGagtaccgccggcctcctccg	5	5	15	16	7	0	1	0	0	0	1	3	3	2	1	6	3	2	2	6	3	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:12903518G>T	ENST00000302754.4	+	1	1209	c.933G>T	c.(931-933)tcG>tcT	p.S311S		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	311	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGGGGCTGTCGAGTACCGCCG	0.667																																																	0													23	24	24					19																	12903518		2198	4299	6497	SO:0001819	synonymous_variant	0			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"basic leucine zipper proteins"	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.933G>T	19.37:g.12903518G>T			Q96GH3	Silent	SNP	pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.S311	ENST00000302754.4	37	c.933	CCDS12280.1	19																																																																																			JUNB	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	ENSG00000171223		0.667	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1		0	40	0	G	NM_002229		12903518	1			no_errors	ENST00000302754	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.849	T	T	12903518	G	T	12903518	2	4	14	1	0	0	0	0	0	0	0	1	7997	1045	37	2		2	JUNB	19	12903518	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1014338	12903518	46225465	232	4464											
ZNF676	163223	genome.wustl.edu	37	chr19	22363008	22363008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacattcttcacatttgtagCgtttctctccagtatgaatt	9	17	5	10	1	3	1	1	1	2	0	5	1	4	1	1	0	1	3	1	0	3	7	rs202153135		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:22363008C>A	ENST00000397121.2	-	3	1828	c.1511G>T	c.(1510-1512)cGc>cTc	p.R504L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	504					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGCGTTTCTCTCC	0.388																																																	0													64	69	67					19																	22363008		2162	4278	6440	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1511G>T	19.37:g.22363008C>A	ENSP00000380310:p.Arg504Leu		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R504L	ENST00000397121.2	37	c.1511	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.482818	0.01027	.	.	ENSG00000196109	ENST00000397121	T	0.17213	2.29	0.81	-1.62	0.08372	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.12961	0.28	0.21064	N	0.999797	B	0.09022	0.002	B	0.10450	0.005	T	0.28681	-1.0036	9	0.51188	T	0.08	.	4.9138	0.13835	0.0:0.2226:0.5595:0.2178	.	504	Q8N7Q3	ZN676_HUMAN	L	504	ENSP00000380310:R504L	ENSP00000380310:R504L	R	-	2	0	ZNF676	22154848	0.003000	0.15002	0.050000	0.19076	0.051000	0.14879	0.735000	0.26115	-1.275000	0.02417	-1.271000	0.01417	CGC	ZNF676	-	pfscan_Znf_C2H2	ENSG00000196109		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1		0	33	0	C	NM_001001411		22363008	-1			no_errors	ENST00000397121	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.515	A	A	22363008	C	A	22363008	3	1	14	1	0	0	0	0	1	0	0	0	18131	768	27	2	259	2	ZNF676	19	22363008	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	9459490	22363008	36765975	233	4465											
RYR1	6261	genome.wustl.edu	37	chr19	39025783	39025783	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccactccctccaggaGagacaggtgccatggtgtcc	7	9	10	15	0	1	1	0	0	1	1	5	3	4	2	5	3	1	0	5	3	0	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:39025783G>T	ENST00000359596.3	+	80	11362	c.11362G>T	c.(11362-11364)Gag>Tag	p.E3788*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.E3788*|RYR1_ENST00000355481.4_Nonsense_Mutation_p.E3783*|AC067969.2_ENST00000595853.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3788					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E3788Q(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCCTCCAGGAGAGACAGGTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											70	51	57					19																	39025783		2203	4300	6503	SO:0001587	stop_gained	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11362G>T	19.37:g.39025783G>T	ENSP00000352608:p.Glu3788*		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E3788*	ENST00000359596.3	37	c.11362	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	53	20.752117	0.99933	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	3.83	3.83	0.44106	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.0434	0.71807	0.0:0.0:1.0:0.0	.	.	.	.	X	3788;3783;3788	.	ENSP00000347667:E3783X	E	+	1	0	RYR1	43717623	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.350000	0.73017	2.146000	0.66826	0.561000	0.74099	GAG	RYR1	-	NULL	ENSG00000196218		0.557	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0	26	0	G			39025783	1			no_errors	ENST00000359596	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	1.000	T	T	39025783	G	T	39025783	4	4	14	1	0	0	0	0	0	1	0	0	13813	943	33	3	11680	3	RYR1	19	39025783	Nonsense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	16662775	39025783	20103200	234	4466											
SULT2B1	6820	genome.wustl.edu	37	chr19	49102487	49102487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgggggatgccgaccttcCcctgggatgaagacccggag	7	6	16	12	3	0	2	0	1	0	1	1	6	1	5	5	4	2	0	5	4	1	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:49102487C>T	ENST00000201586.2	+	7	1100	c.922C>T	c.(922-924)Ccc>Tcc	p.P308S	SULT2B1_ENST00000323090.4_Missense_Mutation_p.P293S|SULT2B1_ENST00000594274.1_3'UTR	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	308	Pro/Ser-rich.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCCGACCTTCCCCTGGGATGA	0.662																																																	0													43	34	37					19																	49102487		2199	4300	6499	SO:0001583	missense	0			U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"Sulfotransferases, cytosolic"	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.922C>T	19.37:g.49102487C>T	ENSP00000201586:p.Pro308Ser		O00205|O75814	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P308S	ENST00000201586.2	37	c.922	CCDS12723.1	19	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997182	0.35226	.	.	ENSG00000088002	ENST00000201586;ENST00000323090	T;T	0.01335	5.0;5.0	5.29	3.13	0.36017	.	0.179935	0.26268	N	0.025348	T	0.01320	0.0043	L	0.29908	0.895	0.23282	N	0.997989	B;B	0.25609	0.13;0.08	B;B	0.15052	0.012;0.005	T	0.47522	-0.9111	10	0.54805	T	0.06	.	7.6268	0.28216	0.0:0.7451:0.1653:0.0896	.	293;308	O00204-2;O00204	.;ST2B1_HUMAN	S	308;293	ENSP00000201586:P308S;ENSP00000312880:P293S	ENSP00000201586:P308S	P	+	1	0	SULT2B1	53794299	1.000000	0.71417	0.488000	0.27440	0.018000	0.09664	1.173000	0.31920	0.719000	0.32188	0.644000	0.83932	CCC	SULT2B1	-	NULL	ENSG00000088002		0.662	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT2B1	HGNC	protein_coding	OTTHUMT00000466140.1		0	101	0	C	NM_004605		49102487	1			no_errors	ENST00000201586	ensembl	human	known	74_37	missense	5.61	101	6	SNP	0.546	T	T	49102487	C	T	49102487	3	4	14	1	0	0	0	0	1	0	0	0	15429	623	22	3	974	3	SULT2B1	19	49102487	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	10076704	49102487	10026496	235	4467											
C19orf63	284361	genome.wustl.edu	37	chr19	50985132	50985132	+	Intron	DEL	G	G	-																															ccccagtggcacatcatcctGgggggggccgtgttgctcac																										TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:50985132delG	ENST00000334976.6	+	7	724				CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000376918.3_Frame_Shift_Del_p.L231fs|EMC10_ENST00000598585.1_Intron	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736																																																	1	Insertion - Frameshift(1)	large_intestine(1)							,	77,52,3703		3,0,71,2,48,1792					,	3.7	1			8	210,155,7453		5,1,199,6,142,3556	no	intron,codingComplex	C19orf63	NM_206538.2,NM_175063.4	,	8,1,270,8,190,5348	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6687,3.3664,4.2403	,	,		287,207,11156				SO:0001627	intron_variant	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-274G>-	19.37:g.50985132delG			Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Frame_Shift_Del	DEL	NULL	p.A234fs	ENST00000334976.6	37	c.693	CCDS12796.1	19																																																																																			EMC10	-	NULL	ENSG00000161671		0.736	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2		0	33	0	G	NM_175063		50985132	1	tier1		no_errors	ENST00000376918	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-	-	50985132	G	-	50985132	6	5	14	0	1	1	0	1	0	0	0	0	1952	1335	47	0		0	C19orf63	19	50985132	Intron	DEL	G	TCGA-IC-A6RF-01A-13D-A33E-09	1882645	50985132	8143851	236	4468											
LAIR2	3904	genome.wustl.edu	37	chr19	55019195	55019195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtgccggggcccggttGgggttcaaacattccgcctg	5	10	14	12	3	2	0	2	0	0	0	3	0	3	0	4	5	2	2	4	5	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:55019195G>T	ENST00000301202.2	+	3	282	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W	LAIR2_ENST00000351841.2_Missense_Mutation_p.G54W	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	54	Ig-like C2-type.					extracellular region (GO:0005576)				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GGGCCCGGTTGGGGTTCAAAC	0.557																																																	0													91	95	93					19																	55019195		2203	4300	6503	SO:0001583	missense	0			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.160G>T	19.37:g.55019195G>T	ENSP00000301202:p.Gly54Trp		Q6PEZ4	Missense_Mutation	SNP	smart_Ig_sub	p.G54W	ENST00000301202.2	37	c.160	CCDS12897.1	19	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298210	0.40694	.	.	ENSG00000167618	ENST00000412608;ENST00000452094;ENST00000301202;ENST00000351841	T;T;T	0.23348	1.91;2.69;2.69	3.51	-1.91	0.07641	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.804100	0.03031	N	0.152127	T	0.45458	0.1343	M	0.76002	2.32	0.09310	N	1	P;D;D	0.89917	0.925;1.0;1.0	P;D;D	0.97110	0.852;1.0;1.0	T	0.37407	-0.9707	10	0.66056	D	0.02	.	0.865	0.01202	0.2282:0.1812:0.4054:0.1853	.	48;54;54	C9JFQ0;Q6ISS4-2;Q6ISS4	.;.;LAIR2_HUMAN	W	48;36;54;54	ENSP00000390729:G48W;ENSP00000301202:G54W;ENSP00000301203:G54W	ENSP00000301202:G54W	G	+	1	0	LAIR2	59711007	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.064000	0.14437	-0.334000	0.08463	0.462000	0.41574	GGG	LAIR2	-	smart_Ig_sub	ENSG00000167618		0.557	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR2	HGNC	protein_coding	OTTHUMT00000140801.1	-	0	29	0	G			55019195	1	tier1	-	no_errors	ENST00000301202	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.000	T	T	55019195	G	T	55019195	3	4	14	1	0	0	0	0	1	0	0	0	8631	1348	47	3	170	3	LAIR2	19	55019195	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	4034063	55019195	4109788	237	4469											
ZNF784	147808	genome.wustl.edu	37	chr19	56133379	56133379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgtggccgctaagcaccGaggactgggtgaagcccttg	7	6	17	11	3	0	1	0	1	0	0	0	3	0	2	3	4	2	2	3	4	2	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:56133379G>A	ENST00000325351.4	-	2	749	c.710C>T	c.(709-711)tCg>tTg	p.S237L	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	237					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCTAAGCACCGAGGACTGGGT	0.662																																																	0													36	27	30					19																	56133379		2199	4296	6495	SO:0001583	missense	0			AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.710C>T	19.37:g.56133379G>A	ENSP00000320096:p.Ser237Leu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S237L	ENST00000325351.4	37	c.710	CCDS12930.1	19	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780434	0.70222	.	.	ENSG00000179922	ENST00000325351	T	0.07908	3.15	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36815	N	0.002382	T	0.16599	0.0399	M	0.69823	2.125	0.80722	D	1	D	0.57571	0.98	P	0.48089	0.566	T	0.05178	-1.0901	10	0.66056	D	0.02	-19.2156	14.9372	0.70967	0.0:0.0:1.0:0.0	.	237	Q8NCA9	ZN784_HUMAN	L	237	ENSP00000320096:S237L	ENSP00000320096:S237L	S	-	2	0	ZNF784	60825191	0.156000	0.22821	0.992000	0.48379	0.848000	0.48234	2.791000	0.47829	2.248000	0.74166	0.313000	0.20887	TCG	ZNF784	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179922		0.662	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF784	HGNC	protein_coding	OTTHUMT00000453355.2	-	0	21	0	G	NM_203374		56133379	-1	tier1	-	no_errors	ENST00000325351	ensembl	human	known	74_37	missense	28.12	22	9	SNP	0.797	A	A	56133379	G	A	56133379	3	1	14	1	0	0	0	0	1	0	0	0	18204	1059	37	1	265	1	ZNF784	19	56133379	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1114184	56133379	2995604	238	4470											
EPN1	29924	genome.wustl.edu	37	chr19	56200681	56200681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccccgtcctgcggccccGaggacgacgcccagctccag	6	3	12	20	5	0	0	0	0	0	0	2	3	2	1	7	2	3	1	7	2	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:56200681G>A	ENST00000270460.6	+	5	933	c.622G>A	c.(622-624)Gag>Aag	p.E208K	EPN1_ENST00000411543.2_Intron|EPN1_ENST00000085079.7_Intron|EPN1_ENST00000591743.1_3'UTR	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	208					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CTGCGGCCCCGAGGACGACGC	0.667																																																	0													29	30	30					19																	56200681		692	1591	2283	SO:0001583	missense	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.622G>A	19.37:g.56200681G>A	ENSP00000270460:p.Glu208Lys		Q86ST3|Q9HA18	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_Ubiquitin-int_motif,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.E208K	ENST00000270460.6	37	c.622	CCDS46199.1	19	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177842	0.57692	.	.	ENSG00000063245	ENST00000270460;ENST00000544375	T	0.17370	2.28	4.58	4.58	0.56647	Ubiquitin interacting motif (3);	0.147062	0.44902	D	0.000418	T	0.24661	0.0598	L	0.47716	1.5	0.80722	D	1	P;D	0.58970	0.95;0.984	B;P	0.51453	0.414;0.67	T	0.01702	-1.1292	10	0.23302	T	0.38	.	16.5143	0.84295	0.0:0.0:1.0:0.0	.	169;208	B4DU91;Q9Y6I3	.;EPN1_HUMAN	K	208;169	ENSP00000270460:E208K	ENSP00000270460:E208K	E	+	1	0	EPN1	60892493	1.000000	0.71417	0.985000	0.45067	0.922000	0.55478	7.342000	0.79310	2.274000	0.75844	0.462000	0.41574	GAG	EPN1	-	pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif	ENSG00000063245		0.667	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	-	0	33	0	G	NM_013333		56200681	1	tier1	-	no_errors	ENST00000270460	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.994	A	A	56200681	G	A	56200681	3	1	14	1	0	0	0	0	1	0	0	0	5201	1059	37	1	977	1	EPN1	19	56200681	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	67302	56200681	2928302	239	4471											
NLRP11	204801	genome.wustl.edu	37	chr19	56329311	56329311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctacaaagatcttccttaCgcatcattgaaaatatgctg	13	13	5	10	1	2	2	1	1	1	1	4	2	4	2	2	0	3	2	2	0	6	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:56329311C>T	ENST00000589093.1	-	2	323	c.230G>A	c.(229-231)cGt>cAt	p.R77H	NLRP11_ENST00000443188.1_Missense_Mutation_p.R77H|NLRP11_ENST00000589824.2_Missense_Mutation_p.R77H|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000360133.3_Missense_Mutation_p.R77H			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATCTTCCTTACGCATCATTGA	0.453																																																	0													127	115	119					19																	56329311		2203	4300	6503	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.230G>A	19.37:g.56329311C>T	ENSP00000466285:p.Arg77His		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R77H	ENST00000589093.1	37	c.230	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072422	0.20147	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.57907	0.37;0.37	2.84	-2.88	0.05682	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.31796	0.0808	N	0.25647	0.755	0.09310	N	1	P	0.36010	0.532	B	0.34779	0.189	T	0.16217	-1.0410	9	0.44086	T	0.13	.	4.0413	0.09753	0.0:0.3226:0.4109:0.2664	.	77	P59045	NAL11_HUMAN	H	77	ENSP00000409898:R77H;ENSP00000353251:R77H	ENSP00000353251:R77H	R	-	2	0	NLRP11	61021123	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.680000	0.00395	-0.647000	0.05444	0.650000	0.86243	CGT	NLRP11	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000179873		0.453	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	-	0	25	0	C	NM_145007		56329311	-1	tier1	-	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.000	T	T	56329311	C	T	56329311	3	4	14	1	0	0	0	0	1	0	0	0	10512	536	19	1	2907	1	NLRP11	19	56329311	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	128630	56329311	2799672	240	4472											
NLRP8	126205	genome.wustl.edu	37	chr19	56467321	56467321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgattatcataaagttGtcttgagaattggcaacaac	16	13	7	5	0	2	2	1	2	1	1	2	3	2	2	0	1	2	2	0	1	8	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr19:56467321G>T	ENST00000291971.3	+	3	1968	c.1897G>T	c.(1897-1899)Gtc>Ttc	p.V633F	NLRP8_ENST00000590542.1_Missense_Mutation_p.V633F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	633					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCATAAAGTTGTCTTGAGAAT	0.463																																																	0													124	116	119					19																	56467321		2203	4300	6503	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1897G>T	19.37:g.56467321G>T	ENSP00000291971:p.Val633Phe		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V633F	ENST00000291971.3	37	c.1897	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413205	0.25465	.	.	ENSG00000179709	ENST00000291971	D	0.87571	-2.27	2.03	-3.94	0.04130	.	.	.	.	.	T	0.81631	0.4863	L	0.46157	1.445	0.09310	N	1	P;B	0.42785	0.79;0.08	P;B	0.44990	0.466;0.029	T	0.72481	-0.4280	9	0.54805	T	0.06	.	4.7461	0.13038	0.2735:0.2128:0.5137:0.0	.	633;633	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	633	ENSP00000291971:V633F	ENSP00000291971:V633F	V	+	1	0	NLRP8	61159133	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.168000	0.00574	-1.137000	0.02888	-0.507000	0.04495	GTC	NLRP8	-	NULL	ENSG00000179709		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	-	0	36	0	G	NM_176811		56467321	1	tier1	-	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	56467321	G	T	56467321	3	4	14	1	0	0	0	0	1	0	0	0	10522	1377	48	3	1907	3	NLRP8	19	56467321	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	138010	56467321	2661662	241	4473											
RSPO4	343637	genome.wustl.edu	37	chr20	982768	982768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgagcatgtccacggCgtgggcgacgagcaggagca	9	3	18	11	5	0	0	0	0	0	0	1	4	1	1	1	4	3	3	1	4	0	0	rs200584918		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr20:982768C>T	ENST00000217260.4	-	1	136	c.40G>A	c.(40-42)Gcc>Acc	p.A14T	RSPO4_ENST00000400634.2_Missense_Mutation_p.A14T	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	14					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						ATGTCCACGGCGTGGGCGACG	0.746																																																	0													10	12	11					20																	982768		1902	4064	5966	SO:0001583	missense	0			AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.40G>A	20.37:g.982768C>T	ENSP00000217260:p.Ala14Thr		A2A2I6|Q9UGB2	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.A14T	ENST00000217260.4	37	c.40	CCDS42846.1	20	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149266	0.37923	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	D;D	0.87334	-1.66;-2.24	4.14	1.14	0.20703	.	0.560172	0.14769	N	0.299535	T	0.75547	0.3864	L	0.36672	1.1	0.21652	N	0.999608	B;B	0.29270	0.098;0.24	B;B	0.17098	0.01;0.017	T	0.58741	-0.7583	10	0.23302	T	0.38	-3.6673	5.9141	0.19045	0.0:0.6593:0.0:0.3407	.	14;14	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	T	14	ENSP00000217260:A14T;ENSP00000383475:A14T	ENSP00000217260:A14T	A	-	1	0	RSPO4	930768	0.895000	0.30542	0.736000	0.30914	0.946000	0.59487	0.132000	0.15891	0.082000	0.17018	-0.258000	0.10820	GCC	RSPO4	-	NULL	ENSG00000101282		0.746	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO4	HGNC	protein_coding	OTTHUMT00000077492.3		0	8	0	C	XM_297816		982768	-1			no_errors	ENST00000217260	ensembl	human	known	74_37	missense	16.67	10	2	SNP	0.910	T	T	982768	C	T	982768	3	4	14	1	0	0	0	0	1	0	0	0	13757	768	27	1	684	1	RSPO4	20	982768	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		982768	62042752	242	4474											
FAM65C	140876	genome.wustl.edu	37	chr20	49218951	49218951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcttcaatggaggcGtggggaccgaaggtcaaggg	8	7	16	10	2	3	0	2	0	1	0	4	3	4	2	3	6	0	0	3	6	3	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr20:49218951G>A	ENST00000327979.2	-	13	1716	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	FAM65C_ENST00000535356.1_Silent_p.H439H|FAM65C_ENST00000045083.2_Silent_p.H435H			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	435								p.H435H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAATGGAGGCGTGGGGACCGA	0.652																																																	1	Substitution - coding silent(1)	lung(1)											31	33	32					20																	49218951		2144	4209	6353	SO:0001819	synonymous_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1305C>T	20.37:g.49218951G>A			Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.H439	ENST00000327979.2	37	c.1317	CCDS13431.2	20																																																																																			FAM65C	-	NULL	ENSG00000042062		0.652	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	-	0	44	0	G			49218951	-1	tier1	-	no_errors	ENST00000535356	ensembl	human	known	74_37	silent	23.94	54	17	SNP	0.000	A	A	49218951	G	A	49218951	2	1	14	1	0	0	0	0	0	0	0	1	5623	1136	40	1		1	FAM65C	20	49218951	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	48236183	49218951	13806569	243	4475											
TFAP2C	7022	genome.wustl.edu	37	chr20	55206907	55206907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgatcagacagtcattcGcaaaggtaaatagcaaggtg	15	7	11	8	2	2	1	2	0	0	1	3	2	2	1	0	2	1	4	0	2	5	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr20:55206907G>A	ENST00000201031.2	+	3	824	c.581G>A	c.(580-582)cGc>cAc	p.R194H	TFAP2C_ENST00000544508.1_Missense_Mutation_p.R25H	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	194					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACAGTCATTCGCAAAGGTAAA	0.542																																																	0													117	101	107					20																	55206907		2203	4300	6503	SO:0001583	missense	0				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.581G>A	20.37:g.55206907G>A	ENSP00000201031:p.Arg194His		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.R194H	ENST00000201031.2	37	c.581	CCDS13454.1	20	.	.	.	.	.	.	.	.	.	.	G	29.6	5.016942	0.93404	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	T;D	0.97378	-1.07;-4.36	5.84	5.84	0.93424	.	0.094577	0.64402	D	0.000001	D	0.96833	0.8966	L	0.43152	1.355	0.43719	D	0.99619	D	0.71674	0.998	P	0.58520	0.84	D	0.96658	0.9487	10	0.72032	D	0.01	-13.5055	13.344	0.60561	0.0719:0.0:0.9281:0.0	.	194	Q92754	AP2C_HUMAN	H	194;25	ENSP00000201031:R194H;ENSP00000442274:R25H	ENSP00000201031:R194H	R	+	2	0	TFAP2C	54640314	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	5.157000	0.64911	2.768000	0.95171	0.561000	0.74099	CGC	TFAP2C	-	NULL	ENSG00000087510		0.542	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	HGNC	protein_coding	OTTHUMT00000079823.2		0	43	0	G	NM_003222		55206907	1			no_errors	ENST00000201031	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	55206907	G	A	55206907	3	1	14	1	0	0	0	0	1	0	0	0	15836	1087	38	1	591	1	TFAP2C	20	55206907	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	5987956	55206907	7818613	244	4476											
GNAS	2778	genome.wustl.edu	37	chr20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacgagcccatccccGtcgagaatgatggcgaggcc	10	5	11	15	4	1	2	1	1	0	1	3	5	2	2	4	2	2	0	4	2	2	0	rs587778390		TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_5'Flank|GNAS_ENST00000371075.3_Intron|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000371102.4_Missense_Mutation_p.V61I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													21	24	23					20																	57428501		1883	4116	5999	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.181G>A	20.37:g.57428501G>A	ENSP00000360141:p.Val61Ile		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.V61I	ENST00000371100.4	37	c.181	CCDS46622.1	20	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.343714	0.00222	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88431	-2.38;-2.38	4.42	-8.85	0.00799	.	.	.	.	.	T	0.70500	0.3231	N	0.03115	-0.41	0.42993	D	0.994497	B	0.02656	0.0	B	0.01281	0.0	T	0.51857	-0.8652	9	0.33940	T	0.23	.	12.2115	0.54381	0.2247:0.2022:0.5731:0.0	.	61	Q5JWF2	GNAS1_HUMAN	I	61	ENSP00000360141:V61I;ENSP00000360143:V61I	ENSP00000360140:V61I	V	+	1	0	GNAS	56861896	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-3.235000	0.00546	-3.510000	0.00150	-2.264000	0.00278	GTC	GNAS	-	NULL	ENSG00000087460		0.642	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	-	0	16	0	G	NM_000516		57428501	1	tier1	-	no_errors	ENST00000371100	ensembl	human	putative	74_37	missense	25.00	27	9	SNP	0.000	A	A	57428501	G	A	57428501	3	1	14	1	0	0	0	0	1	0	0	0	6536	1145	40	1	925	1	GNAS	20	57428501	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	2221594	57428501	5597019	245	4477											
KRTAP13-2	337959	genome.wustl.edu	37	chr21	31744209	31744209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatccatagcccagggagCggcagctgctggatccaaag	10	6	13	12	2	0	0	0	0	0	0	3	3	2	2	3	3	4	3	3	3	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr21:31744209C>T	ENST00000399889.2	-	1	348	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	108						intermediate filament (GO:0005882)		p.R108P(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GCCCAGGGAGCGGCAGCTGCT	0.607																																																	1	Substitution - Missense(1)	lung(1)											48	49	48					21																	31744209		2203	4300	6503	SO:0001583	missense	0			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.323G>A	21.37:g.31744209C>T	ENSP00000382777:p.Arg108His			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.R108H	ENST00000399889.2	37	c.323	CCDS13589.1	21	.	.	.	.	.	.	.	.	.	.	C	0.766	-0.767386	0.02974	.	.	ENSG00000182816	ENST00000399889	T	0.03358	3.96	4.48	1.15	0.20763	.	1.529090	0.04771	N	0.427941	T	0.03477	0.0100	L	0.37466	1.105	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.48293	-0.9048	10	0.13470	T	0.59	.	3.7238	0.08467	0.0:0.5126:0.1994:0.288	.	108	Q52LG2	KR132_HUMAN	H	108	ENSP00000382777:R108H	ENSP00000382777:R108H	R	-	2	0	KRTAP13-2	30666080	0.000000	0.05858	0.001000	0.08648	0.695000	0.40330	-1.349000	0.02627	0.068000	0.16574	-0.251000	0.11542	CGC	KRTAP13-2	-	pfam_KRTAP_PMG	ENSG00000182816		0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-2	HGNC	protein_coding	OTTHUMT00000128245.1		0	34	0	C			31744209	-1			no_errors	ENST00000399889	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.009	T	T	31744209	C	T	31744209	3	4	14	1	0	0	0	0	1	0	0	0	8550	768	27	1	208	1	KRTAP13-2	21	31744209	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09		31744209	16385686	246	4478											
GART	2618	genome.wustl.edu	37	chr21	34877881	34877881	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttaccattccacttttgGacaaaggggccagaaagaat	13	10	9	9	0	0	2	0	0	0	2	1	3	1	3	3	3	2	1	3	3	4	4			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr21:34877881G>T	ENST00000381831.3	-	20	2975	c.2712C>A	c.(2710-2712)gtC>gtA	p.V904V	GART_ENST00000381839.3_Silent_p.V904V|GART_ENST00000381815.4_Silent_p.V904V|GART_ENST00000543717.1_Silent_p.V456V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	904	GART.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TCCACTTTTGGACAAAGGGGC	0.393																																																	0													84	81	82					21																	34877881		2203	4300	6503	SO:0001819	synonymous_variant	0			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2712C>A	21.37:g.34877881G>T			A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.V904	ENST00000381831.3	37	c.2712	CCDS13627.1	21																																																																																			GART	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,tigrfam_PurN_trans	ENSG00000159131		0.393	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3		0	21	0	G	NM_000819		34877881	-1			no_errors	ENST00000381815	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.980	T	T	34877881	G	T	34877881	2	4	14	1	0	0	0	0	0	0	0	1	6268	1161	41	3		3	GART	21	34877881	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	3133672	34877881	13252014	247	4479											
MX1	4599	genome.wustl.edu	37	chr21	42807878	42807878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggccctgccagccatcGccgtcatcggggaccagagc	7	5	12	17	3	1	1	1	0	0	1	3	2	1	2	6	3	3	0	6	3	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr21:42807878G>T	ENST00000398600.2	+	8	1245	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	MX1_ENST00000398598.3_Missense_Mutation_p.A74S|MX1_ENST00000288383.6_Missense_Mutation_p.A74S|MX1_ENST00000455164.2_Missense_Mutation_p.A74S	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	74	Dynamin-type G.|GTPase domain (Globular).				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCCAGCCATCGCCGTCATCGG	0.612																																																	0													80	79	80					21																	42807878		2203	4300	6503	SO:0001583	missense	0				CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"interferon-inducible protein p78"	147150	"myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)", "myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.220G>T	21.37:g.42807878G>T	ENSP00000381601:p.Ala74Ser		B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.A74S	ENST00000398600.2	37	c.220	CCDS13673.1	21	.	.	.	.	.	.	.	.	.	.	G	31	5.097951	0.94197	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000424365;ENST00000417963;ENST00000441677;ENST00000288383	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.19;-4.19;-2.69	4.48	4.48	0.54585	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99445	1.0939	10	0.72032	D	0.01	-22.5154	16.5923	0.84769	0.0:0.0:1.0:0.0	.	74	P20591	MX1_HUMAN	S	74	ENSP00000381601:A74S;ENSP00000381599:A74S;ENSP00000410523:A74S;ENSP00000400923:A74S;ENSP00000402215:A74S;ENSP00000288383:A74S	ENSP00000288383:A74S	A	+	1	0	MX1	41729748	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	6.629000	0.74267	2.445000	0.82738	0.561000	0.74099	GCC	MX1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	ENSG00000157601		0.612	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX1	HGNC	protein_coding	OTTHUMT00000195161.2		0	14	0	G			42807878	1			no_errors	ENST00000398598	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	42807878	G	T	42807878	3	4	14	1	0	0	0	0	1	0	0	0	10035	1087	38	2	226	2	MX1	21	42807878	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	7929997	42807878	5322017	248	4480											
PPM1F	9647	genome.wustl.edu	37	chr22	22285609	22285609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccccgagccaggcgacgtGcagggtcgctcctgcaatga	8	6	13	14	4	0	1	0	1	0	0	3	3	2	1	4	2	3	3	4	2	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr22:22285609G>A	ENST00000263212.5	-	6	907	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	PPM1F_ENST00000538191.1_Missense_Mutation_p.H164Y|PPM1F_ENST00000407142.1_Missense_Mutation_p.H100Y|PPM1F_ENST00000397495.4_Missense_Mutation_p.H268Y	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	268					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CAGGCGACGTGCAGGGTCGCT	0.617																																																	0													99	77	85					22																	22285609		2203	4300	6503	SO:0001583	missense	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.802C>T	22.37:g.22285609G>A	ENSP00000263212:p.His268Tyr		A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.H268Y	ENST00000263212.5	37	c.802	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	G	1.567	-0.535070	0.04082	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191;ENST00000397495	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	4.84	3.81	0.43845	Protein phosphatase 2C-like (5);	0.285598	0.38005	N	0.001854	T	0.02571	0.0078	N	0.00122	-2.065	0.36095	D	0.843753	B;B;B	0.15930	0.001;0.015;0.004	B;B;B	0.17098	0.002;0.017;0.017	T	0.38672	-0.9650	10	0.02654	T	1	-20.0027	13.878	0.63665	0.0743:0.0:0.9257:0.0	.	164;268;268	B7Z2C3;A8MX49;P49593	.;.;PPM1F_HUMAN	Y	268;100;100;164;268	ENSP00000263212:H268Y;ENSP00000384930:H100Y;ENSP00000439915:H164Y;ENSP00000380632:H268Y	ENSP00000263212:H268Y	H	-	1	0	PPM1F	20615609	1.000000	0.71417	0.981000	0.43875	0.321000	0.28281	3.190000	0.50973	1.406000	0.46857	0.561000	0.74099	CAC	PPM1F	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000100034		0.617	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	-	0	28	0	G	NM_014634		22285609	-1	tier1	-	no_errors	ENST00000263212	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.897	A	A	22285609	G	A	22285609	3	1	14	1	0	0	0	0	1	0	0	0	12381	1319	46	3	574	3	PPM1F	22	22285609	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		22285609	29018957	249	4481											
ADORA2A	135	genome.wustl.edu	37	chr22	24836880	24836880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgccgggggagcgggCacggtccacactgcagaagg	7	4	17	13	3	1	1	0	0	1	1	2	2	2	2	3	5	3	2	3	5	1	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr22:24836880C>A	ENST00000337539.7	+	3	1121	c.662C>A	c.(661-663)gCa>gAa	p.A221E	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A_ENST00000496497.1_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	221					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	GGGGAGCGGGCACGGTCCACA	0.622																																																	0													142	140	141					22																	24836880		2203	4300	6503	SO:0001583	missense	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.662C>A	22.37:g.24836880C>A	ENSP00000336630:p.Ala221Glu		B2R7E0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.A221E	ENST00000337539.7	37	c.662	CCDS13826.1	22	.	.	.	.	.	.	.	.	.	.	C	5.488	0.275005	0.10403	.	.	ENSG00000128271	ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596	T;T	0.38887	1.11;1.11	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.539758	0.20761	N	0.086165	T	0.29716	0.0742	N	0.11818	0.18	0.21802	N	0.999532	B	0.19817	0.039	B	0.25405	0.06	T	0.14008	-1.0488	10	0.29301	T	0.29	-4.8694	17.5681	0.87926	0.0:1.0:0.0:0.0	.	221	P29274	AA2AR_HUMAN	E	221	ENSP00000414802:A221E;ENSP00000336630:A221E	ENSP00000336630:A221E	A	+	2	0	ADORA2A	23166880	0.830000	0.29337	0.007000	0.13788	0.097000	0.18754	7.598000	0.82745	2.385000	0.81259	0.462000	0.41574	GCA	ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt	ENSG00000128271		0.622	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2	-	0	22	0	C	NM_000675		24836880	1	tier1	-	no_errors	ENST00000337539	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.350	A	A	24836880	C	A	24836880	3	1	14	1	0	0	0	0	1	0	0	0	327	710	25	3	668	3	ADORA2A	22	24836880	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	2551271	24836880	26467686	250	4482											
KREMEN1	83999	genome.wustl.edu	37	chr22	29534726	29534726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggtcctccaaagtcctctAtgtcatcaccaccagcccca	9	8	5	19	1	3	0	2	0	1	0	6	0	6	0	8	1	1	0	8	1	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr22:29534726A>G	ENST00000407188.1	+	7	1073	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C	KREMEN1_ENST00000327813.5_Missense_Mutation_p.Y360C|KREMEN1_ENST00000400335.4_Missense_Mutation_p.Y360C|KREMEN1_ENST00000400338.2_Missense_Mutation_p.Y360C			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	358					cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						AAAGTCCTCTATGTCATCACC	0.632																																																	0													70	81	77					22																	29534726		2044	4192	6236	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.1073A>G	22.37:g.29534726A>G	ENSP00000385431:p.Tyr358Cys		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.Y360C	ENST00000407188.1	37	c.1079	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445941	0.84101	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.62639	0.09;0.01;0.01;0.01	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000030	T	0.68476	0.3005	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.997	T	0.69045	-0.5249	10	0.44086	T	0.13	.	13.609	0.62065	1.0:0.0:0.0:0.0	.	358;360;360	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	C	360;360;360;358	ENSP00000383189:Y360C;ENSP00000383192:Y360C;ENSP00000331242:Y360C;ENSP00000385431:Y358C	ENSP00000331242:Y360C	Y	+	2	0	KREMEN1	27864726	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	7.702000	0.84576	2.172000	0.68678	0.533000	0.62120	TAT	KREMEN1	-	pirsf_Kremen	ENSG00000183762		0.632	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0	73	0	A			29534726	1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	29.29	69	29	SNP	1.000	G	G	29534726	A	G	29534726	3	3	14	1	0	0	0	0	1	0	0	0	8469	449	16	4	1105	4	KREMEN1	22	29534726	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	4697846	29534726	21769840	251	4483											
DNAJB7	150353	genome.wustl.edu	37	chr22	41257207	41257207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatacctccctcatcattGtccacgaaagtatattgaga	13	12	6	10	1	2	1	2	1	0	1	4	4	4	1	3	0	1	1	3	0	5	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr22:41257207G>T	ENST00000307221.4	-	1	923	c.792C>A	c.(790-792)gaC>gaA	p.D264E	XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	264							chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CCTCATCATTGTCCACGAAAG	0.423																																																	0													132	124	127					22																	41257207		2203	4300	6503	SO:0001583	missense	0			AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"Heat shock proteins / DNAJ (HSP40)"	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.792C>A	22.37:g.41257207G>T	ENSP00000307197:p.Asp264Glu		Q2M220|Q5H904|Q8WYJ7	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ConA-like_lec_gl_sf,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.D264E	ENST00000307221.4	37	c.792	CCDS14008.1	22	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.404369	0.01155	.	.	ENSG00000172404	ENST00000307221	T	0.59772	0.24	4.48	-1.46	0.08800	.	2.655720	0.01795	N	0.032537	T	0.39963	0.1098	L	0.39397	1.21	0.09310	N	0.999999	B	0.17667	0.023	B	0.21151	0.033	T	0.12578	-1.0542	10	0.02654	T	1	.	0.9714	0.01416	0.1784:0.1539:0.3517:0.316	.	264	Q7Z6W7	DNJB7_HUMAN	E	264	ENSP00000307197:D264E	ENSP00000307197:D264E	D	-	3	2	DNAJB7	39587153	0.008000	0.16893	0.008000	0.14137	0.069000	0.16628	0.242000	0.18087	-0.113000	0.11958	0.591000	0.81541	GAC	DNAJB7	-	NULL	ENSG00000172404		0.423	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB7	HGNC	protein_coding	OTTHUMT00000321765.1	-	0	52	0	G	NM_145174		41257207	-1	tier1	-	no_errors	ENST00000307221	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.009	T	T	41257207	G	T	41257207	3	4	14	1	0	0	0	0	1	0	0	0	4639	1368	48	3	141	3	DNAJB7	22	41257207	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	11722481	41257207	10047359	252	4484											
PKDREJ	10343	genome.wustl.edu	37	chr22	46653089	46653089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatgtgatctacctgaGaaactgcatgaaagggaatg	15	10	10	6	0	2	3	1	3	1	1	2	5	2	4	1	1	3	1	1	1	5	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chr22:46653089G>T	ENST00000253255.5	-	1	6130	c.6131C>A	c.(6130-6132)tCt>tAt	p.S2044Y		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2044					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCTACCTGAGAAACTGCATG	0.418																																																	0													83	86	85					22																	46653089		2203	4300	6503	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6131C>A	22.37:g.46653089G>T	ENSP00000253255:p.Ser2044Tyr		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.S2044Y	ENST00000253255.5	37	c.6131	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869725	0.51588	.	.	ENSG00000130943	ENST00000253255	T	0.72051	-0.62	5.81	5.81	0.92471	Polycystin cation channel, PKD1/PKD2 (1);	0.543328	0.18109	N	0.151412	D	0.82921	0.5142	M	0.65975	2.015	0.18873	N	0.999983	D	0.89917	1.0	D	0.70487	0.969	T	0.76049	-0.3101	10	0.72032	D	0.01	-9.1588	16.8074	0.85709	0.0:0.0:1.0:0.0	.	2044	Q9NTG1	PKDRE_HUMAN	Y	2044	ENSP00000253255:S2044Y	ENSP00000253255:S2044Y	S	-	2	0	PKDREJ	45031753	0.999000	0.42202	0.038000	0.18304	0.525000	0.34531	4.539000	0.60657	2.758000	0.94735	0.508000	0.49915	TCT	PKDREJ	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom	ENSG00000130943		0.418	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1		0	17	0	G	NM_006071		46653089	-1			no_errors	ENST00000253255	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.103	T	T	46653089	G	T	46653089	3	4	14	1	0	0	0	0	1	0	0	0	12009	942	33	3	634	3	PKDREJ	22	46653089	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	5395882	46653089	4651477	253	4485											
MAGEB6	158809	genome.wustl.edu	37	chrX	26212570	26212570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagaaggcgtgcacgttgGcgcaattcctgcagaagaag	13	6	14	8	3	0	4	0	0	0	4	1	4	1	4	1	2	2	4	1	2	5	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:26212570G>T	ENST00000379034.1	+	2	756	c.607G>T	c.(607-609)Gcg>Tcg	p.A203S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGCACGTTGGCGCAATTCCT	0.473																																																	0													85	71	76					X																	26212570		2202	4300	6502	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.607G>T	X.37:g.26212570G>T	ENSP00000368320:p.Ala203Ser		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.A203S	ENST00000379034.1	37	c.607	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	G	8.792	0.930879	0.18131	.	.	ENSG00000176746	ENST00000379034	T	0.01854	4.6	3.1	0.418	0.16429	.	0.273455	0.28736	U	0.014320	T	0.01730	0.0055	L	0.29908	0.895	0.09310	N	1	B	0.16603	0.018	B	0.14578	0.011	T	0.44528	-0.9322	10	0.87932	D	0	.	2.99	0.05980	0.2744:0.2394:0.4862:0.0	.	203	Q8N7X4	MAGB6_HUMAN	S	203	ENSP00000368320:A203S	ENSP00000368320:A203S	A	+	1	0	MAGEB6	26122491	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.313000	0.08103	-0.032000	0.13758	0.594000	0.82650	GCG	MAGEB6	-	pfscan_MAGE	ENSG00000176746		0.473	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	-	0	37	0	G	NM_173523		26212570	1	tier1	-	no_errors	ENST00000379034	ensembl	human	known	74_37	missense	5.33	70	4	SNP	0.000	T	T	26212570	G	T	26212570	3	4	14	1	0	0	0	0	1	0	0	0	9217	1203	42	3	609	3	MAGEB6	23	26212570	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09		26212570	129057990	254	4486											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29417387	29417387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgaattaaaatatggagGctttgttgtgagaagaacta	14	13	11	3	0	0	3	0	2	0	2	0	5	0	4	0	2	1	2	0	2	7	5			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:29417387G>T	ENST00000378993.1	+	5	1338	c.665G>T	c.(664-666)gGc>gTc	p.G222V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G222V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	222	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAATATGGAGGCTTTGTTGTG	0.323																																																	0													72	70	70					X																	29417387		2202	4292	6494	SO:0001583	missense	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.665G>T	X.37:g.29417387G>T	ENSP00000368278:p.Gly222Val		A0AVG4|Q9UJ53	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.G222V	ENST00000378993.1	37	c.665	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392921	0.25118	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.14266	2.52;2.52	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.253191	0.38837	N	0.001541	T	0.24353	0.0590	M	0.86864	2.845	0.48901	D	0.999726	B	0.19200	0.034	B	0.25140	0.058	T	0.02991	-1.1085	9	.	.	.	.	13.2804	0.60210	0.0:0.0:0.8314:0.1686	.	222	Q9NZN1	IRPL1_HUMAN	V	222	ENSP00000368278:G222V;ENSP00000305200:G222V	.	G	+	2	0	IL1RAPL1	29327308	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	2.963000	0.49184	2.426000	0.82243	0.523000	0.50628	GGC	IL1RAPL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000169306		0.323	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	-	0	126	0	G	NM_014271		29417387	1	tier1	-	no_errors	ENST00000302196	ensembl	human	known	74_37	missense	22.29	122	35	SNP	1.000	T	T	29417387	G	T	29417387	3	4	14	1	0	0	0	0	1	0	0	0	7688	1203	42	3	679	3	IL1RAPL1	23	29417387	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	3204817	29417387	125853173	255	4487											
GNL3L	54552	genome.wustl.edu	37	chrX	54578109	54578109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcgtaactgcgtccaCgtgcagaagctggcagaccc	9	7	11	14	3	0	2	0	0	0	2	2	2	2	2	3	1	5	4	3	1	2	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:54578109C>T	ENST00000336470.4	+	11	1111	c.972C>T	c.(970-972)caC>caT	p.H324H	GNL3L_ENST00000360845.2_Silent_p.H324H	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	324					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						ACTGCGTCCACGTGCAGAAGC	0.627																																																	0													57	50	52					X																	54578109		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.972C>T	X.37:g.54578109C>T				Silent	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.H324	ENST00000336470.4	37	c.972	CCDS14360.1	X																																																																																			GNL3L	-	NULL	ENSG00000130119		0.627	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3L	HGNC	protein_coding	OTTHUMT00000056805.1	-	0	52	0	C	NM_019067		54578109	1	tier1	-	no_errors	ENST00000336470	ensembl	human	known	74_37	silent	35.94	41	23	SNP	0.271	T	T	54578109	C	T	54578109	2	4	14	1	0	0	0	0	0	0	0	1	6564	535	19	1		1	GNL3L	23	54578109	Silent	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	25160722	54578109	100692451	256	4488											
USP51	158880	genome.wustl.edu	37	chrX	55515327	55515327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctccggagatccagcGgaccccagagccggagggca	9	2	13	17	3	0	2	0	0	0	2	2	5	2	4	7	4	2	1	7	4	0	0			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:55515327G>C	ENST00000500968.3	-	2	128	c.46C>G	c.(46-48)Cgc>Ggc	p.R16G	USP51_ENST00000586165.1_5'Flank	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	16					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GAGATCCAGCGGACCCCAGAG	0.637																																																	0													11	10	10					X																	55515327		2146	4201	6347	SO:0001583	missense	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.46C>G	X.37:g.55515327G>C	ENSP00000423333:p.Arg16Gly		Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R16G	ENST00000500968.3	37	c.46	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	0.961	-0.703212	0.03255	.	.	ENSG00000247746	ENST00000500968	T	0.10192	2.9	2.66	-3.41	0.04839	.	.	.	.	.	T	0.04907	0.0132	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44922	-0.9296	9	0.14252	T	0.57	.	4.055	0.09813	0.3866:0.3472:0.2662:0.0	.	16	Q70EK9	UBP51_HUMAN	G	16	ENSP00000423333:R16G	ENSP00000423333:R16G	R	-	1	0	USP51	55532052	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.613000	0.05610	-1.107000	0.03004	0.431000	0.28591	CGC	USP51	-	NULL	ENSG00000247746		0.637	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2		0	48	0	G	NM_201286		55515327	-1			no_errors	ENST00000500968	ensembl	human	known	74_37	missense	28.00	36	14	SNP	0.000	C	C	55515327	G	C	55515327	3	2	14	1	0	0	0	0	1	0	0	0	17132	1116	39	5	2093	5	USP51	23	55515327	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	937218	55515327	99755233	257	4489											
LAS1L	81887	genome.wustl.edu	37	chrX	64738220	64738220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtatatggagacttcccaAtgggggaggcctcagagccc	9	8	14	10	0	1	2	1	0	0	2	2	4	2	3	3	4	1	1	3	4	3	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:64738220A>G	ENST00000374811.3	-	12	1614	c.1574T>C	c.(1573-1575)aTt>aCt	p.I525T	LAS1L_ENST00000374807.5_Missense_Mutation_p.I508T|LAS1L_ENST00000374804.5_Missense_Mutation_p.I466T|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	525					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AGACTTCCCAATGGGGGAGGC	0.572																																																	0													71	68	69					X																	64738220		2203	4300	6503	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1574T>C	X.37:g.64738220A>G	ENSP00000363944:p.Ile525Thr		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.I525T	ENST00000374811.3	37	c.1574	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	A	12.57	1.977063	0.34848	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.77	-2.8	0.05823	.	0.798338	0.11254	N	0.583296	T	0.12646	0.0307	N	0.16307	0.4	0.09310	N	1	B;B;B;B	0.14805	0.007;0.003;0.01;0.011	B;B;B;B	0.14023	0.003;0.008;0.006;0.01	T	0.31668	-0.9935	9	0.02654	T	1	.	0.0755	0.00026	0.294:0.1649:0.214:0.3272	.	466;508;525;38	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	T	508;525;466	.	ENSP00000363937:I466T	I	-	2	0	LAS1L	64654945	0.000000	0.05858	0.167000	0.22817	0.965000	0.64279	-0.247000	0.08866	-0.234000	0.09782	0.381000	0.24937	ATT	LAS1L	-	NULL	ENSG00000001497		0.572	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	-	0	36	0	A	NM_031206		64738220	-1	tier1	-	no_errors	ENST00000374811	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.000	G	G	64738220	A	G	64738220	3	3	14	1	0	0	0	0	1	0	0	0	8664	101	4	4	642	4	LAS1L	23	64738220	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	9222893	64738220	90532340	258	4490											
ZMYM3	9203	genome.wustl.edu	37	chrX	70462090	70462090	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggtgccccgaggggtGgtacacttgcgggactgccg	4	9	18	10	3	0	0	0	0	0	0	0	2	0	1	3	6	4	1	3	6	1	3			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:70462090G>T	ENST00000353904.2	-	23	3919	c.3732C>A	c.(3730-3732)acC>acA	p.T1244T	ZMYM3_ENST00000373998.1_Silent_p.T1232T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.T1246T|ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000314425.5_Silent_p.T1244T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1244					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCCGAGGGGTGGTACACTTGC	0.582																																																	0													81	49	60					X																	70462090		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3732C>A	X.37:g.70462090G>T			D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.T1246	ENST00000353904.2	37	c.3738	CCDS14409.1	X																																																																																			ZMYM3	-	pfam_DUF3504	ENSG00000147130		0.582	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0	106	0	G	NM_201599		70462090	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	silent	33.86	84	43	SNP	0.998	T	T	70462090	G	T	70462090	2	4	14	1	0	0	0	0	0	0	0	1	17749	1335	47	3		3	ZMYM3	23	70462090	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	5723870	70462090	84808470	259	4491											
TAF1	6872	genome.wustl.edu	37	chrX	70617240	70617240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaggggaaagagtatgttCgctgtgagacagtccgaaaa	15	7	14	5	2	0	3	0	1	0	3	2	6	1	4	1	2	0	3	1	2	5	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:70617240C>T	ENST00000373790.4	+	23	3592	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	TAF1_ENST00000449580.1_Missense_Mutation_p.R1181C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1202C|TAF1_ENST00000423759.1_Missense_Mutation_p.R1202C	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1181					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGAGTATGTTCGCTGTGAGAC	0.458																																																	0													188	136	154					X																	70617240		2203	4300	6503	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3541C>T	X.37:g.70617240C>T	ENSP00000362895:p.Arg1181Cys		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1181C	ENST00000373790.4	37	c.3541	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	20.8	4.050546	0.75960	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.91	4.0	0.46444	.	0.215659	0.46442	D	0.000286	T	0.78394	0.4276	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.85130	0.927;0.997;0.997	T	0.81575	-0.0870	10	0.87932	D	0	.	12.7154	0.57111	0.2745:0.7255:0.0:0.0	.	1181;1181;1202	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	C	1181;1181;1202;1202	ENSP00000362895:R1181C;ENSP00000389000:R1181C;ENSP00000406549:R1202C;ENSP00000276072:R1202C	ENSP00000276072:R1202C	R	+	1	0	TAF1	70533965	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.320000	0.43797	2.322000	0.78497	0.449000	0.29647	CGC	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	-	0	50	0	C	NM_004606		70617240	1	tier1	-	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	T	T	70617240	C	T	70617240	3	4	14	1	0	0	0	0	1	0	0	0	15560	884	31	1	3694	1	TAF1	23	70617240	Missense_Mutation	SNP	C	TCGA-IC-A6RF-01A-13D-A33E-09	155150	70617240	84653320	260	4492											
ALG13	79868	genome.wustl.edu	37	chrX	110928199	110928199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttatatttgtaggtgcagGaagctgtttggagactctgg	9	15	13	4	0	1	1	0	0	1	1	1	3	1	2	0	4	2	4	0	4	4	6			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:110928199G>T	ENST00000394780.3	+	3	263	c.251G>T	c.(250-252)gGa>gTa	p.G84V	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Missense_Mutation_p.G84V	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	84	Glycosyltransferase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GTAGGTGCAGGAAGCTGTTTG	0.363																																																	0													171	180	177					X																	110928199		2203	4300	6503	SO:0001583	missense	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.251G>T	X.37:g.110928199G>T	ENSP00000378260:p.Gly84Val		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_Glyco_trans_28_C	p.G84V	ENST00000394780.3	37	c.251	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689298	0.88735	.	.	ENSG00000101901	ENST00000371979;ENST00000486353;ENST00000394780	T;T;T	0.80824	-1.42;-1.42;-1.42	6.17	6.17	0.99709	Glycosyl transferase, family 28, C-terminal (1);	.	.	.	.	D	0.90717	0.7087	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.985	D	0.91154	0.4955	8	0.87932	D	0	.	19.3367	0.94322	0.0:0.0:1.0:0.0	.	6;84;84	Q9NP73-3;Q9NP73;Q9NP73-2	.;ALG13_HUMAN;.	V	84	ENSP00000361047:G84V;ENSP00000426892:G84V;ENSP00000378260:G84V	ENSP00000361047:G84V	G	+	2	0	ALG13	110814855	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.892000	0.92491	2.618000	0.88619	0.600000	0.82982	GGA	ALG13	-	pfam_Glyco_trans_28_C	ENSG00000101901		0.363	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	-	0	46	0	G	NM_018466		110928199	1	tier1	-	no_errors	ENST00000371979	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	110928199	G	T	110928199	3	4	14	1	0	0	0	0	1	0	0	0	515	1174	41	3	261	3	ALG13	23	110928199	Missense_Mutation	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	40310959	110928199	44342361	261	4493											
AMOT	154796	genome.wustl.edu	37	chrX	112048235	112048235	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctgatctcggatttcGatgtgtcgtctttggtcctc	4	15	12	10	3	2	1	0	1	2	0	7	3	3	2	2	3	0	0	2	3	0	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:112048235G>T	ENST00000524145.1	-	6	1790	c.1716C>A	c.(1714-1716)atC>atA	p.I572I	AMOT_ENST00000371959.3_Silent_p.I572I|AMOT_ENST00000304758.1_Silent_p.I163I|AMOT_ENST00000371958.1_Silent_p.I340I|AMOT_ENST00000371962.1_Silent_p.I340I			Q4VCS5	AMOT_HUMAN	angiomotin	572					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTCGGATTTCGATGTGTCGTC	0.527																																																	0													275	227	243					X																	112048235		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1716C>A	X.37:g.112048235G>T			Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.I572	ENST00000524145.1	37	c.1716	CCDS48154.1	X																																																																																			AMOT	-	NULL	ENSG00000126016		0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	-	0	53	0	G	NM_133265		112048235	-1	tier1	-	no_errors	ENST00000371959	ensembl	human	known	74_37	silent	29.51	43	18	SNP	0.809	T	T	112048235	G	T	112048235	2	4	14	1	0	0	0	0	0	0	0	1	582	1048	37	2		2	AMOT	23	112048235	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	1120036	112048235	43222325	262	4494											
SPANXN1	494118	genome.wustl.edu	37	chrX	144337320	144337320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattcaaatcaactggagAatgaccagtcctgagagaac	16	8	8	9	0	2	4	2	2	0	2	3	6	3	4	2	1	3	0	2	1	5	2			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:144337320A>T	ENST00000370493.3	+	2	964	c.205A>T	c.(205-207)Aat>Tat	p.N69Y		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	69										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTGGAGAATGACCAGTC	0.433																																																	0													187	162	170					X																	144337320		2203	4298	6501	SO:0001583	missense	0				CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.205A>T	X.37:g.144337320A>T	ENSP00000359524:p.Asn69Tyr			Missense_Mutation	SNP	pfam_SPANX_prot	p.N69Y	ENST00000370493.3	37	c.205	CCDS35421.1	X	.	.	.	.	.	.	.	.	.	.	-	10.69	1.421288	0.25639	.	.	ENSG00000203923	ENST00000370493	T	0.10668	2.85	1.19	1.19	0.21007	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	T	0.07328	-1.0778	8	0.87932	D	0	.	4.2466	0.10674	1.0:0.0:0.0:0.0	.	69	Q5VSR9	SPXN1_HUMAN	Y	69	ENSP00000359524:N69Y	ENSP00000359524:N69Y	N	+	1	0	SPANXN1	144145012	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	-0.214000	0.09292	0.733000	0.32492	0.127000	0.15803	AAT	SPANXN1	-	pfam_SPANX_prot	ENSG00000203923		0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN1	HGNC	protein_coding	OTTHUMT00000058631.2	-	0	112	0	A	NM_001009614		144337320	1	tier1	-	no_errors	ENST00000370493	ensembl	human	known	74_37	missense	27.71	60	23	SNP	0.001	T	T	144337320	A	T	144337320	3	4	14	1	0	0	0	0	1	0	0	0	15037	246	9	5	211	5	SPANXN1	23	144337320	Missense_Mutation	SNP	A	TCGA-IC-A6RF-01A-13D-A33E-09	32289085	144337320	10933240	263	4495											
IDS	3423	genome.wustl.edu	37	chrX	148571894	148571894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggccagctgaagatcGtccaaagcactcaagaggcg	11	7	12	11	2	1	3	1	1	0	2	3	3	2	3	2	2	2	3	2	2	3	1			TCGA-IC-A6RF-01A-13D-A33E-09	TCGA-IC-A6RF-10A-21D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0c1770c-8e08-4a0b-a96f-374b66ca6ddf	1c18afec-20fc-4456-9a04-f65fce56e159	g.chrX:148571894G>A	ENST00000340855.6	-	7	1166	c.957C>T	c.(955-957)gaC>gaT	p.D319D	IDS_ENST00000541269.1_Silent_p.D108D|IDS_ENST00000370441.4_Silent_p.D319D|IDS_ENST00000422081.2_Silent_p.D108D|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000537071.1_5'Flank	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	319					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCTGAAGATCGTCCAAAGCAC	0.443																																																	0													106	93	97					X																	148571894		2203	4300	6503	SO:0001819	synonymous_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"Hunter syndrome"	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.957C>T	X.37:g.148571894G>A			D3DWT4|Q14604|Q9BRM3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.D319	ENST00000340855.6	37	c.957	CCDS14685.1	X																																																																																			IDS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000010404		0.443	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	-	0	43	0	G			148571894	-1	tier1	-	no_errors	ENST00000340855	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.997	A	A	148571894	G	A	148571894	2	1	14	1	0	0	0	0	0	0	0	1	7530	1136	40	1		1	IDS	23	148571894	Silent	SNP	G	TCGA-IC-A6RF-01A-13D-A33E-09	4234574	148571894	6698666	264	4496											
PRDM16	63976	genome.wustl.edu	37	chr1	3329081	3329081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgccgagtgcccctttGatctcaccaccaagcccaaa	10	7	7	17	1	1	1	1	1	1	0	2	2	1	1	7	0	3	0	7	0	2	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:3329081G>T	ENST00000270722.5	+	9	2369	c.2320G>T	c.(2320-2322)Gat>Tat	p.D774Y	PRDM16_ENST00000442529.2_Missense_Mutation_p.D774Y|PRDM16_ENST00000511072.1_Missense_Mutation_p.D775Y|PRDM16_ENST00000514189.1_Missense_Mutation_p.D775Y|PRDM16_ENST00000378398.3_Missense_Mutation_p.D775Y|PRDM16_ENST00000378391.2_Missense_Mutation_p.D774Y|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.D774Y			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	774	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTGCCCCTTTGATCTCACCAC	0.682			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													40	46	44					1																	3329081		2005	4164	6169	SO:0001583	missense	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2320G>T	1.37:g.3329081G>T	ENSP00000270722:p.Asp774Tyr		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D774Y	ENST00000270722.5	37	c.2320	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498152	0.44455	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.12255	2.73;2.74;2.75;2.74;2.72;2.76;2.74;2.7;2.71	4.41	4.41	0.53225	.	0.000000	0.51477	U	0.000094	T	0.39332	0.1074	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	0.963;0.997;1.0;0.995	P;P;D;P	0.71414	0.603;0.905;0.973;0.82	T	0.43048	-0.9415	10	0.87932	D	0	.	17.3359	0.87281	0.0:0.0:1.0:0.0	.	774;774;774;774	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	Y	775;775;774;774;774;775;774;590;590;583	ENSP00000426975:D775Y;ENSP00000367651:D775Y;ENSP00000407968:D774Y;ENSP00000405253:D774Y;ENSP00000367643:D774Y;ENSP00000421400:D775Y;ENSP00000270722:D774Y;ENSP00000422504:D590Y;ENSP00000425796:D583Y	ENSP00000270722:D774Y	D	+	1	0	PRDM16	3318941	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	9.131000	0.94446	2.169000	0.68431	0.453000	0.30009	GAT	PRDM16	-	NULL	ENSG00000142611		0.682	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	-	0	103	0	G	NM_022114		3329081	1	tier1	-	no_errors	ENST00000270722	ensembl	human	known	74_37	missense	19.23	63	15	SNP	1.000	T	T	3329081	G	T	3329081	3	4	15	1	0	0	0	0	1	0	0	0	12499	1290	45	3	2354	3	PRDM16	1	3329081	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		3329081	245921540	1	4497											
MFN2	9927	genome.wustl.edu	37	chr1	12066704	12066704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catggttaccggcctggcctCcttgacatccaggacctcca	7	9	9	16	1	0	1	0	1	0	0	3	2	3	2	7	4	1	1	7	4	1	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:12066704C>G	ENST00000235329.5	+	16	2148	c.1826C>G	c.(1825-1827)tCc>tGc	p.S609C	MFN2_ENST00000444836.1_Missense_Mutation_p.S609C	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	609					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGCCTGGCCTCCTTGACATCC	0.642																																																	0													104	94	97					1																	12066704		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1826C>G	1.37:g.12066704C>G	ENSP00000235329:p.Ser609Cys		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.S609C	ENST00000235329.5	37	c.1826	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592612	0.66219	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.97529	-4.42;-4.42	4.79	4.79	0.61399	Fzo/mitofusin HR2 domain (1);	0.126144	0.53938	D	0.000044	D	0.97498	0.9181	M	0.88377	2.95	0.80722	D	1	B	0.30664	0.289	B	0.37451	0.25	D	0.98190	1.0462	10	0.87932	D	0	-23.4325	17.3712	0.87379	0.0:1.0:0.0:0.0	.	609	O95140	MFN2_HUMAN	C	609;609;307	ENSP00000416338:S609C;ENSP00000235329:S609C	ENSP00000235329:S609C	S	+	2	0	MFN2	11989291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.278000	0.78587	2.633000	0.89246	0.655000	0.94253	TCC	MFN2	-	pfam_Fzo/mitofusin_HR2	ENSG00000116688		0.642	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0	50	0	C	NM_014874		12066704	1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	31.51	50	23	SNP	1.000	G	G	12066704	C	G	12066704	3	3	15	1	0	0	0	0	1	0	0	0	9562	855	30	5	1880	5	MFN2	1	12066704	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	8737623	12066704	237183917	2	4498											
EIF4G3	8672	genome.wustl.edu	37	chr1	21191175	21191175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtccttggcttcttccaGttcatcatgaagccttgtcc	5	17	7	12	0	3	1	2	1	1	0	6	1	6	1	4	1	1	2	4	1	1	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:21191175G>T	ENST00000264211.8	-	16	2826	c.2632C>A	c.(2632-2634)Ctg>Atg	p.L878M	EIF4G3_ENST00000374935.3_Missense_Mutation_p.L598M|EIF4G3_ENST00000537738.1_Missense_Mutation_p.L368M|EIF4G3_ENST00000602326.1_Missense_Mutation_p.L884M|EIF4G3_ENST00000400422.1_Missense_Mutation_p.L878M|EIF4G3_ENST00000536266.1_Missense_Mutation_p.L482M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.L884M	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	878	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.|eIF3/EIF4A-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCTTCTTCCAGTTCATCATGA	0.428																																																	0													109	101	104					1																	21191175		2203	4300	6503	SO:0001583	missense	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.2632C>A	1.37:g.21191175G>T	ENSP00000264211:p.Leu878Met		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.L884M	ENST00000264211.8	37	c.2650	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951217	0.92660	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.41	5.41	0.78517	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.64402	D	0.000002	T	0.57403	0.2051	M	0.82193	2.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.997	D;D;D;D;D	0.97110	1.0;1.0;0.993;0.999;0.995	T	0.63111	-0.6710	10	0.87932	D	0	-8.2482	19.2046	0.93724	0.0:0.0:1.0:0.0	.	1073;598;482;884;878	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	M	878;1074;878;598;368;884;482	ENSP00000264211:L878M;ENSP00000383274:L878M;ENSP00000364071:L598M;ENSP00000442010:L368M;ENSP00000364073:L884M;ENSP00000444693:L482M	ENSP00000264211:L878M	L	-	1	2	EIF4G3	21063762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.705000	0.74644	2.548000	0.85928	0.585000	0.79938	CTG	EIF4G3	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000075151		0.428	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0	36	0	G	NM_003760		21191175	-1			no_errors	ENST00000374937	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	21191175	G	T	21191175	3	4	15	1	0	0	0	0	1	0	0	0	5054	1020	36	3	2189	3	EIF4G3	1	21191175	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	9124471	21191175	228059446	3	4499											
IL22RA1	58985	genome.wustl.edu	37	chr1	24447957	24447957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcccgacctcaggggcagCgtttggggcataggacagtg	7	6	18	10	2	1	0	1	0	0	0	1	2	1	1	2	6	1	3	2	6	1	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:24447957C>T	ENST00000270800.1	-	7	1101	c.1063G>A	c.(1063-1065)Gct>Act	p.A355T		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	355					cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCAGGGGCAGCGTTTGGGGCA	0.612																																																	0													96	102	100					1																	24447957		2203	4300	6503	SO:0001583	missense	0			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"Interleukins and interleukin receptors"	13700	protein-coding gene	gene with protein product		605457	"interleukin 22 receptor"	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1063G>A	1.37:g.24447957C>T	ENSP00000270800:p.Ala355Thr		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A355T	ENST00000270800.1	37	c.1063	CCDS247.1	1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426554	0.25726	.	.	ENSG00000142677	ENST00000270800	T	0.10099	2.91	5.12	-1.02	0.10135	.	0.815512	0.10923	N	0.619173	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.45556	-0.9253	10	0.12766	T	0.61	-19.2556	3.6259	0.08113	0.1739:0.3785:0.0:0.4476	.	287;355	B4E2V9;Q8N6P7	.;I22R1_HUMAN	T	355	ENSP00000270800:A355T	ENSP00000270800:A355T	A	-	1	0	IL22RA1	24320544	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.511000	0.06321	0.202000	0.20498	-0.464000	0.05259	GCT	IL22RA1	-	NULL	ENSG00000142677		0.612	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	-	0	81	0	C			24447957	-1	tier1	-	no_errors	ENST00000270800	ensembl	human	novel	74_37	missense	11.11	72	9	SNP	0.000	T	T	24447957	C	T	24447957	3	4	15	1	0	0	0	0	1	0	0	0	7700	768	27	1	665	1	IL22RA1	1	24447957	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	3256782	24447957	224802664	4	4500											
MRPS15	64960	genome.wustl.edu	37	chr1	36923529	36923529	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtccagagtttacctttcGatgtttctccaagtgttctt	7	17	7	10	2	2	1	0	0	2	1	5	2	3	1	3	0	1	3	3	0	2	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:36923529G>A	ENST00000373116.5	-	6	600	c.439C>T	c.(439-441)Cga>Tga	p.R147*	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	147					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTACCTTTCGATGTTTCTCC	0.507																																																	0													152	133	139					1																	36923529		2203	4300	6503	SO:0001587	stop_gained	0			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"Mitochondrial ribosomal proteins / small subunits"	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.439C>T	1.37:g.36923529G>A	ENSP00000362208:p.Arg147*		B2RD82|Q9H2K1	Nonsense_Mutation	SNP	pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.R147*	ENST00000373116.5	37	c.439	CCDS411.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.814139	0.97857	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.49	5.49	0.81192	.	0.137493	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5622	18.3538	0.90348	0.0:0.0:1.0:0.0	.	.	.	.	X	147	.	ENSP00000362208:R147X	R	-	1	2	MRPS15	36696116	1.000000	0.71417	0.950000	0.38849	0.907000	0.53573	6.296000	0.72751	2.559000	0.86315	0.563000	0.77884	CGA	MRPS15	-	pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	ENSG00000116898		0.507	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS15	HGNC	protein_coding	OTTHUMT00000022052.2	-	0	48	0	G	NM_031280		36923529	-1	tier1	-	no_errors	ENST00000373116	ensembl	human	known	74_37	nonsense	25.93	60	21	SNP	0.996	A	A	36923529	G	A	36923529	4	1	15	1	0	0	0	0	0	1	0	0	9863	1066	37	1	346	1	MRPS15	1	36923529	Nonsense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	12475572	36923529	212327092	5	4501											
WDR78	79819	genome.wustl.edu	37	chr1	67313346	67313346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctatgtccattagaGaactagtttcactatctaca	12	16	4	9	0	3	1	1	0	2	1	4	2	4	1	1	0	2	1	1	0	6	8			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:67313346G>T	ENST00000371026.3	-	8	1167	c.1112C>A	c.(1111-1113)tCt>tAt	p.S371Y	WDR78_ENST00000431318.1_Missense_Mutation_p.S117Y|WDR78_ENST00000371023.3_Missense_Mutation_p.S371Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	371					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GTCCATTAGAGAACTAGTTTC	0.289																																																	0													56	58	57					1																	67313346		2202	4298	6500	SO:0001583	missense	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1112C>A	1.37:g.67313346G>T	ENSP00000360065:p.Ser371Tyr		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S371Y	ENST00000371026.3	37	c.1112	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614541	0.46631	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023	T;T;T;T	0.69561	0.27;-0.41;-0.39;2.01	5.16	5.16	0.70880	.	0.239684	0.43747	D	0.000528	T	0.79009	0.4374	M	0.74258	2.255	0.48511	D	0.999662	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.75484	0.986;0.979;0.931	T	0.81398	-0.0951	10	0.87932	D	0	-23.6349	17.7782	0.88516	0.0:0.0:1.0:0.0	.	117;371;371	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	Y	371;117;137;371	ENSP00000360065:S371Y;ENSP00000393182:S117Y;ENSP00000433682:S137Y;ENSP00000360062:S371Y	ENSP00000360062:S371Y	S	-	2	0	WDR78	67085934	1.000000	0.71417	0.990000	0.47175	0.211000	0.24417	7.188000	0.77739	2.565000	0.86533	0.557000	0.71058	TCT	WDR78	-	NULL	ENSG00000152763		0.289	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1		0	28	0	G	NM_024763		67313346	-1			no_errors	ENST00000371026	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.993	T	T	67313346	G	T	67313346	3	4	15	1	0	0	0	0	1	0	0	0	17377	942	33	3	1531	3	WDR78	1	67313346	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	30389817	67313346	181937275	6	4502											
TNNI3K	100144878	genome.wustl.edu	37	chr1	74957871	74957871	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggaggacctggccggAgtcatgtggcagcattaaga	10	6	16	9	2	1	1	1	0	0	1	1	4	1	4	3	6	1	2	3	6	1	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:74957871A>G	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.S872G|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S859G|TNNI3K_ENST00000326637.3_Missense_Mutation_p.S758G			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						ACCTGGCCGGAGTCATGTGGC	0.483																																																	0													198	201	200					1																	74957871		2203	4300	6503	SO:0001627	intron_variant	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-8812T>C	1.37:g.74957871A>G				Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S872G	ENST00000294635.4	37	c.2614		1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.994062	0.54041	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.74947	-0.89;-0.89;-0.87	5.7	5.7	0.88788	.	0.082508	0.85682	D	0.000000	T	0.51568	0.1682	L	0.34521	1.04	0.49687	D	0.999817	B;B	0.33171	0.278;0.4	B;B	0.36464	0.039;0.225	T	0.55438	-0.8141	10	0.12103	T	0.63	.	15.9774	0.80079	1.0:0.0:0.0:0.0	.	758;859	Q59H18;Q59H18-1	TNI3K_HUMAN;.	G	859;859;758	ENSP00000450895:S859G;ENSP00000359928:S859G;ENSP00000322251:S758G	ENSP00000322251:S758G	S	+	1	0	RP11-653A5.2;AC093158.1	74730459	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	8.504000	0.90512	2.179000	0.69175	0.533000	0.62120	AGT	FPGT-TNNI3K	-	NULL	ENSG00000259030		0.483	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026515.2	-	0	51	0	A			74957871	1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	10.00	63	7	SNP	1.000	G	G	74957871	A	G	74957871	1	3	15	0	1	0	0	0	0	0	0	0	16376	304	11	4		4	TNNI3K	1	74957871	Intron	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09	7644525	74957871	174292750	7	4503											
FCRL4	83417	genome.wustl.edu	37	chr1	157551430	157551430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggccatctctgttgcctggGgtctctaaggggaaaggacc	8	9	14	10	0	2	0	0	0	2	0	4	2	2	2	3	6	1	1	3	6	2	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:157551430G>A	ENST00000271532.1	-	7	1275	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	380					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGTTGCCTGGGGTCTCTAAGG	0.587																																																	0													33	34	34					1																	157551430		2203	4300	6503	SO:0001819	synonymous_variant	0			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1140C>T	1.37:g.157551430G>A			Q96PJ3|Q96RE0	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T380	ENST00000271532.1	37	c.1140	CCDS1166.1	1																																																																																			FCRL4	-	NULL	ENSG00000163518		0.587	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	-	0	25	0	G	NM_031282		157551430	-1	tier1	-	no_errors	ENST00000271532	ensembl	human	known	74_37	silent	27.66	34	13	SNP	0.000	A	A	157551430	G	A	157551430	2	1	15	1	0	0	0	0	0	0	0	1	5819	1219	43	3		3	FCRL4	1	157551430	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	82593559	157551430	91699191	8	4504											
ADCY10	55811	genome.wustl.edu	37	chr1	167805612	167805612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtaatataaggctttgtCattttctcccaaagccagaa	14	12	7	8	0	2	1	1	0	1	1	3	2	2	1	2	1	1	2	2	1	6	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:167805612C>T	ENST00000367851.4	-	23	3428	c.3244G>A	c.(3244-3246)Gac>Aac	p.D1082N	ADCY10_ENST00000367848.1_Missense_Mutation_p.D990N|ADCY10_ENST00000545172.1_Missense_Mutation_p.D929N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1082					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGCTTTGTCATTTTCTCCC	0.423																																																	0													77	78	78					1																	167805612		2203	4300	6503	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3244G>A	1.37:g.167805612C>T	ENSP00000356825:p.Asp1082Asn		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.D1082N	ENST00000367851.4	37	c.3244	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	T	1.162	-0.643616	0.03531	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.78364	-1.17;-1.17;-1.17	5.26	0.0665	0.14362	.	1.080830	0.06992	N	0.821786	T	0.11665	0.0284	N	0.00162	-1.95	0.09310	N	1.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09907	-1.0653	9	0.05525	T	0.97	-4.1751	4.6297	0.12495	0.0:0.252:0.2994:0.4487	.	990;1082	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	929;1082;990	ENSP00000441992:D929N;ENSP00000356825:D1082N;ENSP00000356822:D990N	ENSP00000356822:D990N	D	-	1	0	ADCY10	166072236	0.759000	0.28416	0.610000	0.28997	0.752000	0.42762	0.052000	0.14163	-0.123000	0.11745	-0.269000	0.10298	GAC	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.423	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0	14	0	C	NM_018417		167805612	-1	tier1	-	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	57.89	8	11	SNP	0.003	T	T	167805612	C	T	167805612	3	4	15	1	0	0	0	0	1	0	0	0	293	826	29	3	1632	3	ADCY10	1	167805612	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	10254182	167805612	81445009	9	4505											
SLC9A11	284525	genome.wustl.edu	37	chr1	173502849	173502849	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttcacaaagtatacacAaaagatatcaatgattccaa	20	10	3	8	0	2	2	2	1	0	1	3	2	3	2	1	0	1	1	1	0	9	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:173502849A>G	ENST00000367714.3	-	17	2484	c.2062T>C	c.(2062-2064)Tgt>Cgt	p.C688R	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	688	Ion transport-like. {ECO:0000250}.				sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAGTATACACAAAAGATATCA	0.289																																																	0													60	68	65					1																	173502849		2201	4294	6495	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2062T>C	1.37:g.173502849A>G	ENSP00000356687:p.Cys688Arg		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.C688R	ENST00000367714.3	37	c.2062	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296511	0.23650	.	.	ENSG00000162753	ENST00000367714	D	0.97279	-4.32	5.26	4.1	0.47936	Ion transport (1);	0.219310	0.32624	N	0.005846	D	0.95255	0.8461	L	0.50333	1.59	0.09310	N	0.999991	D	0.61080	0.989	P	0.58077	0.832	D	0.90978	0.4825	10	0.72032	D	0.01	-7.9352	9.2859	0.37758	0.8182:0.1818:0.0:0.0	.	688	Q5TAH2	S9A11_HUMAN	R	688	ENSP00000356687:C688R	ENSP00000356687:C688R	C	-	1	0	SLC9A11	171769472	0.150000	0.22732	0.002000	0.10522	0.004000	0.04260	1.845000	0.39279	0.914000	0.36822	0.528000	0.53228	TGT	SLC9C2	-	NULL	ENSG00000162753		0.289	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0	43	0	A	NM_178527		173502849	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.010	G	G	173502849	A	G	173502849	3	3	15	1	0	0	0	0	1	0	0	0	14756	130	5	4	1360	4	SLC9A11	1	173502849	Missense_Mutation	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09	5697237	173502849	75747772	10	4506											
PAPPA2	60676	genome.wustl.edu	37	chr1	176664899	176664899	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagcttgtgtggcgctTgcactgaagatgggaccttt	7	11	14	9	1	0	2	0	1	0	1	0	3	0	3	1	3	2	4	1	3	1	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:176664899T>G	ENST00000367662.3	+	7	3814	c.2650T>G	c.(2650-2652)Tgc>Ggc	p.C884G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	884					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGTGGCGCTTGCACTGAAGA	0.532																																																	0													95	97	96					1																	176664899		2078	4232	6310	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2650T>G	1.37:g.176664899T>G	ENSP00000356634:p.Cys884Gly		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.C884G	ENST00000367662.3	37	c.2650	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.104111	0.76983	.	.	ENSG00000116183	ENST00000367662	T	0.10288	2.89	5.51	5.51	0.81932	Fibronectin, type III (2);	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.08391	-1.0724	10	0.87932	D	0	-20.741	15.2975	0.73922	0.0:0.0:0.0:1.0	.	884	Q9BXP8	PAPP2_HUMAN	G	884	ENSP00000356634:C884G	ENSP00000356634:C884G	C	+	1	0	PAPPA2	174931522	1.000000	0.71417	0.990000	0.47175	0.550000	0.35303	7.895000	0.87343	2.098000	0.63641	0.460000	0.39030	TGC	PAPPA2	-	superfamily_Fibronectin_type3	ENSG00000116183		0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	66	0	T			176664899	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	12.35	71	10	SNP	0.999	G	G	176664899	T	G	176664899	3	3	15	1	0	0	0	0	1	0	0	0	11472	1812	63	4	2725	4	PAPPA2	1	176664899	Missense_Mutation	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	3162050	176664899	72585722	11	4507											
TPR	7175	genome.wustl.edu	37	chr1	186302444	186302444	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttgagagatagaaggctgGacattaggactagtagaacg	14	8	15	4	1	0	4	0	1	0	3	0	7	0	6	0	4	1	3	0	4	6	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:186302444G>T	ENST00000367478.4	-	37	5561	c.5265C>A	c.(5263-5265)gtC>gtA	p.V1755V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1755					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TAGAAGGCTGGACATTAGGAC	0.428			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													146	142	143					1																	186302444		1907	4114	6021	SO:0001819	synonymous_variant	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.5265C>A	1.37:g.186302444G>T			Q15655|Q5SWY0|Q99968	Silent	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.V1755	ENST00000367478.4	37	c.5265	CCDS41446.1	1																																																																																			TPR	-	NULL	ENSG00000047410		0.428	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	-	0	35	0	G	NM_003292		186302444	-1	tier1	-	no_errors	ENST00000367478	ensembl	human	known	74_37	silent	7.46	62	5	SNP	1.000	T	T	186302444	G	T	186302444	2	4	15	1	0	0	0	0	0	0	0	1	16464	1161	41	3		3	TPR	1	186302444	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	9637545	186302444	62948177	12	4508											
KCNT2	343450	genome.wustl.edu	37	chr1	196459055	196459055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaaaaattgaacaggCgtatccttagacctttaaac	16	10	8	7	1	0	4	0	2	0	2	1	5	1	4	2	1	2	1	2	1	7	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:196459055C>T	ENST00000294725.9	-	3	1103	c.188G>A	c.(187-189)cGc>cAc	p.R63H	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000367433.5_Missense_Mutation_p.R63H|KCNT2_ENST00000609185.1_Missense_Mutation_p.R63H			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	63					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R63P(1)|p.R63H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289																																																	2	Substitution - Missense(2)	prostate(1)|lung(1)											90	97	94					1																	196459055		2203	4291	6494	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.188G>A	1.37:g.196459055C>T	ENSP00000294725:p.Arg63His		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.R63H	ENST00000294725.9	37	c.188	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785763	0.90282	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.21361	2.01;2.04;2.27	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	T	0.51787	0.1695	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.79784	0.978;0.993;0.954;0.978	T	0.54111	-0.8342	10	0.51188	T	0.08	-6.2909	17.1485	0.86772	0.0:1.0:0.0:0.0	.	63;63;63;63	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	H	63	ENSP00000356403:R63H;ENSP00000356401:R63H;ENSP00000294725:R63H	ENSP00000294725:R63H	R	-	2	0	KCNT2	194725678	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.744000	0.74854	2.723000	0.93209	0.655000	0.94253	CGC	KCNT2	-	NULL	ENSG00000162687		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	18	0	C	NM_198503		196459055	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	T	T	196459055	C	T	196459055	3	4	15	1	0	0	0	0	1	0	0	0	8119	768	27	1	3323	1	KCNT2	1	196459055	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	10156611	196459055	52791566	13	4509											
OBSCN	84033	genome.wustl.edu	37	chr1	228511299	228511299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccaaggctgagctccGtgtggactgtgagtactgcg	7	9	13	12	2	0	2	0	2	0	0	2	3	2	3	3	2	3	3	3	2	2	1	rs375864261		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr1:228511299G>A	ENST00000422127.1	+	56	15688	c.15644G>A	c.(15643-15645)cGt>cAt	p.R5215H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R2849H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6172H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5215H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2334H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5215	Ig-like 49.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGAGCTCCGTGTGGACTGT	0.582																																																	0								G	HIS/ARG,HIS/ARG	0,4324		0,0,2162	59	61	60		15644,15644	5.4	1	1		60	1,8531		0,1,4265	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	29,29	0,1,6427	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging,probably-damaging	5215/7969,5215/6621	228511299	1,12855	2162	4266	6428	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15644G>A	1.37:g.228511299G>A	ENSP00000409493:p.Arg5215His		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R5215H	ENST00000422127.1	37	c.15644	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.260971	0.95368	0.0	1.17E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.069529	0.56097	D	0.000040	T	0.77705	0.4170	L	0.45228	1.405	0.45822	D	0.998695	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.77827	-0.2443	10	0.59425	D	0.04	.	19.3855	0.94554	0.0:0.0:1.0:0.0	.	5215;5215	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5215;5215;2849;2334	ENSP00000284548:R5215H;ENSP00000409493:R5215H;ENSP00000355668:R2849H;ENSP00000355670:R2334H	ENSP00000284548:R5215H	R	+	2	0	OBSCN	226577922	1.000000	0.71417	0.983000	0.44433	0.917000	0.54804	7.370000	0.79589	2.808000	0.96608	0.655000	0.94253	CGT	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000154358		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	63	0	G	NM_052843		228511299	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	29.85	47	20	SNP	0.998	A	A	228511299	G	A	228511299	3	1	15	1	0	0	0	0	1	0	0	0	10851	1145	40	1	15862	1	OBSCN	1	228511299	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	32052244	228511299	20739322	14	4510											
MYT1L	23040	genome.wustl.edu	37	chr2	1926292	1926292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttcagacctgtccgAgttcacagaggtggtatcgt	8	11	10	12	2	3	2	2	0	1	2	5	3	4	2	3	2	0	2	3	2	1	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:1926292A>G	ENST00000399161.2	-	10	1996	c.1249T>C	c.(1249-1251)Tcg>Ccg	p.S417P	MYT1L_ENST00000428368.2_Missense_Mutation_p.S417P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	417					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCTGTCCGAGTTCACAGAG	0.582																																																	0													89	89	89					2																	1926292		2129	4231	6360	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1249T>C	2.37:g.1926292A>G	ENSP00000382114:p.Ser417Pro		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S417P	ENST00000399161.2	37	c.1249		2	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198692	0.58126	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56103	0.49;0.48	5.97	5.97	0.96955	.	0.246048	0.43110	D	0.000611	T	0.64249	0.2581	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.66999	-0.5781	10	0.72032	D	0.01	-17.6463	16.4608	0.84044	1.0:0.0:0.0:0.0	.	417;417	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	P	417;365;417	ENSP00000382114:S417P;ENSP00000396103:S417P	ENSP00000295067:S365P	S	-	1	0	MYT1L	1905299	1.000000	0.71417	0.703000	0.30354	0.036000	0.12997	9.257000	0.95545	2.288000	0.76882	0.533000	0.62120	TCG	MYT1L	-	NULL	ENSG00000186487		0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	49	0	A	NM_015025		1926292	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	G	G	1926292	A	G	1926292	3	3	15	1	0	0	0	0	1	0	0	0	10145	304	11	4	2369	4	MYT1L	2	1926292	Missense_Mutation	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09		1926292	241273081	15	4511											
PRKD3	23683	genome.wustl.edu	37	chr2	37513341	37513341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttacactgcattccttggcGaaagaggcctttcagtaacc	10	12	8	11	1	1	1	1	0	0	1	2	2	2	1	3	2	3	2	3	2	3	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:37513341G>A	ENST00000379066.1	-	6	1651	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	PRKD3_ENST00000234179.2_Missense_Mutation_p.R297C			O94806	KPCD3_HUMAN	protein kinase D3	297					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATTCCTTGGCGAAAGAGGCCT	0.373																																					Melanoma(80;621 1355 8613 11814 51767)												0													120	98	105					2																	37513341		2203	4300	6503	SO:0001583	missense	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.889C>T	2.37:g.37513341G>A	ENSP00000368356:p.Arg297Cys		D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R297C	ENST00000379066.1	37	c.889	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.398183	0.96030	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	D;D	0.92699	-3.09;-3.09	5.71	5.71	0.89125	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.97346	0.9132	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97842	1.0269	10	0.87932	D	0	-5.8143	19.8677	0.96824	0.0:0.0:1.0:0.0	.	297;297	O94806-2;O94806	.;KPCD3_HUMAN	C	297	ENSP00000368356:R297C;ENSP00000234179:R297C	ENSP00000234179:R297C	R	-	1	0	PRKD3	37366845	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.903000	0.87398	2.709000	0.92574	0.655000	0.94253	CGC	PRKD3	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000115825		0.373	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	-	0	39	0	G	NM_005813		37513341	-1	tier1	-	no_errors	ENST00000234179	ensembl	human	known	74_37	missense	9.84	55	6	SNP	1.000	A	A	37513341	G	A	37513341	3	1	15	1	0	0	0	0	1	0	0	0	12562	1058	37	1	1839	1	PRKD3	2	37513341	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	35587049	37513341	205686032	16	4512											
PSME4	23198	genome.wustl.edu	37	chr2	54133795	54133795	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatatcttgatgtatcttTttgtattcacaaccctcaac	11	17	3	10	0	5	1	3	1	2	0	5	1	5	1	1	0	2	2	1	0	5	7			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:54133795T>A	ENST00000404125.1	-	26	2938	c.2883A>T	c.(2881-2883)aaA>aaT	p.K961N	PSME4_ENST00000421748.2_Missense_Mutation_p.K105N	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	961					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GATGTATCTTTTTGTATTCAC	0.358																																																	0													155	154	155					2																	54133795		2203	4300	6503	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2883A>T	2.37:g.54133795T>A	ENSP00000384211:p.Lys961Asn		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.K961N	ENST00000404125.1	37	c.2883	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	T	15.18	2.758074	0.49468	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.11604	2.76;2.76	5.51	4.36	0.52297	Armadillo-type fold (1);	0.042967	0.85682	D	0.000000	T	0.10551	0.0258	L	0.44542	1.39	0.49915	D	0.999835	P;P;P	0.43094	0.799;0.763;0.698	B;B;B	0.41764	0.366;0.288;0.201	T	0.19516	-1.0303	10	0.15066	T	0.55	-13.3679	11.5373	0.50645	0.0:0.0704:0.0:0.9296	.	336;105;961	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	N	105;961	ENSP00000410830:K105N;ENSP00000384211:K961N	ENSP00000384211:K961N	K	-	3	2	PSME4	53987299	1.000000	0.71417	0.931000	0.37212	0.985000	0.73830	2.184000	0.42575	1.028000	0.39785	0.528000	0.53228	AAA	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	-	0	31	0	T	XM_040158		54133795	-1	tier1	-	no_errors	ENST00000404125	ensembl	human	known	74_37	missense	35.71	36	20	SNP	1.000	A	A	54133795	T	A	54133795	3	1	15	1	0	0	0	0	1	0	0	0	12751	1838	64	5	2732	5	PSME4	2	54133795	Missense_Mutation	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	16620454	54133795	189065578	17	4513											
REG3G	130120	genome.wustl.edu	37	chr2	79255036	79255036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttaaaccctggccactGtgggagcctgtcaagaagca	11	8	10	12	0	2	1	1	0	1	1	2	2	2	2	3	2	3	1	3	2	4	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:79255036G>T	ENST00000272324.5	+	5	621	c.437G>T	c.(436-438)tGt>tTt	p.C146F	REG3G_ENST00000393897.2_Missense_Mutation_p.C146F|REG3G_ENST00000409471.1_Missense_Mutation_p.C100F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	146	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTGGCCACTGTGGGAGCCTG	0.493																																																	0													105	108	107					2																	79255036		2203	4300	6503	SO:0001583	missense	0			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.437G>T	2.37:g.79255036G>T	ENSP00000272324:p.Cys146Phe		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C146F	ENST00000272324.5	37	c.437	CCDS1962.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187231	0.78789	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.62105	0.05;0.05;0.06	4.73	4.73	0.59995	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.56097	D	0.000027	D	0.85991	0.5826	H	0.98048	4.135	0.44611	D	0.997588	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90163	0.4229	10	0.72032	D	0.01	.	13.4227	0.61007	0.0:0.0:1.0:0.0	.	100;146	Q3SYE6;Q6UW15	.;REG3G_HUMAN	F	146;146;100	ENSP00000377475:C146F;ENSP00000272324:C146F;ENSP00000387105:C100F	ENSP00000272324:C146F	C	+	2	0	REG3G	79108544	1.000000	0.71417	0.764000	0.31436	0.699000	0.40488	3.984000	0.56923	2.621000	0.88768	0.650000	0.86243	TGT	REG3G	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000143954		0.493	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3G	HGNC	protein_coding	OTTHUMT00000328247.1	-	0	37	0	G	NM_198448		79255036	1	tier1	-	no_errors	ENST00000272324	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.862	T	T	79255036	G	T	79255036	3	4	15	1	0	0	0	0	1	0	0	0	13258	1377	48	3	451	3	REG3G	2	79255036	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	25121241	79255036	163944337	18	4514											
C2orf55	343990	genome.wustl.edu	37	chr2	99449396	99449396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgagtagcgtcctgtcCggactcaggaatgaaaatac	12	7	12	10	3	1	1	1	1	0	0	3	4	3	3	3	3	2	1	3	3	5	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:99449396C>T	ENST00000397899.2	-	4	635	c.304G>A	c.(304-306)Gga>Aga	p.G102R	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	102								p.G102R(1)									GCGTCCTGTCCGGACTCAGGA	0.547																																																	1	Substitution - Missense(1)	lung(1)											133	145	141					2																	99449396		1932	4131	6063	SO:0001583	missense	0			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.304G>A	2.37:g.99449396C>T	ENSP00000380996:p.Gly102Arg			Missense_Mutation	SNP	NULL	p.G102R	ENST00000397899.2	37	c.304	CCDS42720.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933629	0.73442	.	.	ENSG00000196872	ENST00000397899;ENST00000423771;ENST00000428096;ENST00000415261	T	0.46063	0.88	4.82	3.92	0.45320	.	0.000000	0.46145	D	0.000315	T	0.59197	0.2176	M	0.63843	1.955	0.27825	N	0.941662	D	0.89917	1.0	D	0.79784	0.993	T	0.53019	-0.8497	10	0.72032	D	0.01	-9.9826	12.73	0.57193	0.0:0.9185:0.0:0.0815	.	102	Q6NV74	CB055_HUMAN	R	102;130;116;116	ENSP00000380996:G102R	ENSP00000380996:G102R	G	-	1	0	C2orf55	98815828	0.909000	0.30893	0.994000	0.49952	0.969000	0.65631	2.112000	0.41892	2.487000	0.83934	0.561000	0.74099	GGA	KIAA1211L	-	NULL	ENSG00000196872		0.547	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	-	0	22	0	C	NM_207362		99449396	-1	tier1	-	no_errors	ENST00000397899	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.702	T	T	99449396	C	T	99449396	3	4	15	1	0	0	0	0	1	0	0	0	2183	661	23	1	2612	1	C2orf55	2	99449396	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	20194360	99449396	143749977	19	4515											
PKP4	8502	genome.wustl.edu	37	chr2	159526239	159526239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgttggcaggcaaataCgccatgcgagacctggtcaa	10	8	12	11	3	1	1	1	0	0	1	1	2	1	1	3	3	3	3	3	3	3	3	rs138568714		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:159526239C>T	ENST00000389759.3	+	17	2848	c.2736C>T	c.(2734-2736)taC>taT	p.Y912Y	PKP4_ENST00000389757.3_Silent_p.Y912Y|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	912					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGGCAAATACGCCATGCGAG	0.502										HNSCC(62;0.18)																																							0								C	,	1,4405	2.1+/-5.4	0,1,2202	48	51	50		2736,2736	-3	1	2	dbSNP_134	50	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PKP4	NM_001005476.1,NM_003628.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	912/1150,912/1193	159526239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2736C>T	2.37:g.159526239C>T			Q86W91	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Y912	ENST00000389759.3	37	c.2736	CCDS33305.1	2																																																																																			PKP4	-	superfamily_ARM-type_fold	ENSG00000144283		0.502	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0	24	0	C			159526239	1	tier1	rs138568714	no_errors	ENST00000389759	ensembl	human	known	74_37	silent	28.57	25	10	SNP	0.936	T	T	159526239	C	T	159526239	2	4	15	1	0	0	0	0	0	0	0	1	12026	547	19	1		1	PKP4	2	159526239	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	60076843	159526239	83673134	20	4516											
PDE11A	50940	genome.wustl.edu	37	chr2	178681580	178681580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagccacagactgcttggcCcaggacttcttcacttgatc	9	10	9	13	0	2	3	1	1	1	2	3	4	2	4	2	2	2	1	2	2	0	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:178681580C>G	ENST00000286063.6	-	9	2030	c.1713G>C	c.(1711-1713)tgG>tgC	p.W571C	PDE11A_ENST00000389683.3_Missense_Mutation_p.W127C|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.W213C|PDE11A_ENST00000449286.2_Missense_Mutation_p.W213C|PDE11A_ENST00000358450.4_Missense_Mutation_p.W321C	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	571					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ACTGCTTGGCCCAGGACTTCT	0.393									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													149	139	142					2																	178681580		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1713G>C	2.37:g.178681580C>G	ENSP00000286063:p.Trp571Cys		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.W571C	ENST00000286063.6	37	c.1713	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787042	0.70337	.	.	ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000389683;ENST00000449286	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.75443	0.3850	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.67382	0.951;0.887	T	0.76269	-0.3021	10	0.62326	D	0.03	.	18.8421	0.92188	0.0:1.0:0.0:0.0	.	321;571	Q9HCR9-2;Q9HCR9	.;PDE11_HUMAN	C	571;321;213;127;213	ENSP00000286063:W571C;ENSP00000351232:W321C;ENSP00000386539:W213C;ENSP00000374333:W127C;ENSP00000390599:W213C	ENSP00000286063:W571C	W	-	3	0	PDE11A	178389826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.667000	0.68067	2.744000	0.94065	0.655000	0.94253	TGG	PDE11A	-	NULL	ENSG00000128655		0.393	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	-	0	11	0	C			178681580	-1	tier1	-	no_errors	ENST00000286063	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	G	G	178681580	C	G	178681580	3	3	15	1	0	0	0	0	1	0	0	0	11670	624	22	5	1136	5	PDE11A	2	178681580	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	19155341	178681580	64517793	21	4517											
TTN	7273	genome.wustl.edu	37	chr2	179647637	179647637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttcgcgaatcataagaCgagcaattccactctggaag	13	9	9	10	3	2	1	1	0	1	1	4	4	3	2	1	1	2	2	1	1	4	3	rs371757623		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:179647637C>T	ENST00000591111.1	-	18	3220	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	TTN_ENST00000589042.1_Missense_Mutation_p.R999H|TTN_ENST00000460472.2_Missense_Mutation_p.R953H|TTN_ENST00000359218.5_Missense_Mutation_p.R953H|TTN_ENST00000342175.6_Missense_Mutation_p.R953H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R999H|TTN_ENST00000342992.6_Missense_Mutation_p.R999H			Q8WZ42	TITIN_HUMAN	titin	32552	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCATAAGACGAGCAATTCC	0.493																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	102	99	100		2858,2996,2996,2858,2858	6.2	1	2		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	953/26927,999/33424,999/5605,953/27052,953/27119	179647637	1,13005	2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2996G>A	2.37:g.179647637C>T	ENSP00000465570:p.Arg999His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R999H	ENST00000591111.1	37	c.2996		2	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389979	0.42410	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77329	0.4114	L	0.35644	1.08	0.34124	D	0.664483	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.74023	0.947;0.947;0.947;0.971;0.982	T	0.80863	-0.1192	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	953;953;953;999;999	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	999;953;953;953;953;999	ENSP00000343764:R999H;ENSP00000434586:R953H;ENSP00000340554:R953H;ENSP00000352154:R953H;ENSP00000354117:R999H	ENSP00000340554:R953H	R	-	2	0	TTN	179355882	1.000000	0.71417	0.972000	0.41901	0.368000	0.29767	4.876000	0.63079	2.941000	0.99782	0.655000	0.94253	CGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	25	0	C	NM_133378		179647637	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	T	T	179647637	C	T	179647637	3	4	15	1	0	0	0	0	1	0	0	0	16784	536	19	1	108372	1	TTN	2	179647637	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	966057	179647637	63551736	22	4518											
SESTD1	91404	genome.wustl.edu	37	chr2	179986657	179986657	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaccttgcaatcccacatCtaaaacaaaagttactagat	18	9	3	11	0	1	1	0	0	1	1	2	1	2	1	2	0	4	2	2	0	8	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:179986657C>G	ENST00000428443.3	-	13	1599		c.e13-1			NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1								phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATCCCACATCTAAAACAAAA	0.418																																																	0													76	75	75					2																	179986657		2203	4300	6503	SO:0001630	splice_region_variant	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1283-1G>C	2.37:g.179986657C>G			Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Splice_Site	SNP	-	e12-1	ENST00000428443.3	37	c.1283-1	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068848	0.76301	.	.	ENSG00000187231	ENST00000428443	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0499	0.89344	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SESTD1	179694902	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.667000	0.74451	2.584000	0.87258	0.467000	0.42956	.	SESTD1	-	-	ENSG00000187231		0.418	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	-	0	30	0	C	NM_178123	Intron	179986657	-1	tier1	-	no_errors	ENST00000428443	ensembl	human	known	74_37	splice_site	30.77	27	12	SNP	1.000	G	G	179986657	C	G	179986657	5	3	15	1	0	0	0	0	0	0	1	0	14172	927	32	5	832	5	SESTD1	2	179986657	Splice_Site	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	339020	179986657	63212716	23	4519											
PLCL1	5334	genome.wustl.edu	37	chr2	198949317	198949317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttagacatcataaggaGatacgaactttctgaagagg	15	10	10	6	1	2	4	1	1	1	3	2	6	2	4	0	2	3	1	0	2	5	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:198949317G>T	ENST00000428675.1	+	2	1474	c.1076G>T	c.(1075-1077)aGa>aTa	p.R359I	PLCL1_ENST00000437704.2_Missense_Mutation_p.R261I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	359					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATCATAAGGAGATACGAACTT	0.388																																																	0													107	101	103					2																	198949317		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1076G>T	2.37:g.198949317G>T	ENSP00000402861:p.Arg359Ile		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R359I	ENST00000428675.1	37	c.1076	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667748	0.47677	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.46451	0.87;0.87	5.94	5.94	0.96194	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.42810	0.1219	L	0.60455	1.87	0.58432	D	0.999994	P;P	0.37276	0.589;0.589	B;B	0.39299	0.296;0.296	T	0.21999	-1.0229	9	.	.	.	.	13.5478	0.61715	0.0708:0.0:0.9292:0.0	.	359;285	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	359;261	ENSP00000402861:R359I;ENSP00000414138:R261I	.	R	+	2	0	PLCL1	198657562	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.181000	0.65054	2.826000	0.97356	0.561000	0.74099	AGA	PLCL1	-	pfam_PLipase_C_EF-hand-like	ENSG00000115896		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	46	0	G	NM_006226		198949317	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	T	T	198949317	G	T	198949317	3	4	15	1	0	0	0	0	1	0	0	0	12078	942	33	3	1082	3	PLCL1	2	198949317	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	18962660	198949317	44250056	24	4520											
AOX1	316	genome.wustl.edu	37	chr2	201470309	201470309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagttataatttctcctGatagaattgaagaactgagt	14	13	7	7	0	1	5	0	3	1	2	2	5	1	5	2	0	1	1	2	0	6	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:201470309G>T	ENST00000374700.2	+	10	1106	c.865G>T	c.(865-867)Gat>Tat	p.D289Y		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	289	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AATTTCTCCTGATAGAATTGA	0.313																																																	0													84	91	89					2																	201470309		2203	4300	6503	SO:0001583	missense	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.865G>T	2.37:g.201470309G>T	ENSP00000363832:p.Asp289Tyr		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.D289Y	ENST00000374700.2	37	c.865	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	G	1.199	-0.633026	0.03584	.	.	ENSG00000138356	ENST00000374700	T	0.23147	1.92	5.92	4.11	0.48088	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);Molybdopterin dehydrogenase, FAD-binding (1);	0.338944	0.29830	N	0.011085	T	0.29288	0.0729	M	0.72894	2.215	0.09310	N	1	B	0.21309	0.054	B	0.32583	0.148	T	0.29150	-1.0021	10	0.41790	T	0.15	-20.1086	6.1633	0.20376	0.0665:0.2525:0.5501:0.1309	.	289	Q06278	ADO_HUMAN	Y	289	ENSP00000363832:D289Y	ENSP00000363832:D289Y	D	+	1	0	AOX1	201178554	0.001000	0.12720	0.308000	0.25141	0.013000	0.08279	1.092000	0.30927	0.830000	0.34757	-0.182000	0.12963	GAT	AOX1	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.313	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	-	0	46	0	G	NM_001159		201470309	1	tier1	-	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	21.54	51	14	SNP	0.059	T	T	201470309	G	T	201470309	3	4	15	1	0	0	0	0	1	0	0	0	729	1290	45	3	903	3	AOX1	2	201470309	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	2520992	201470309	41729064	25	4521											
FAM126B	285172	genome.wustl.edu	37	chr2	201846546	201846546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaaaatccttcatctGcatcattcaggtttacagac	12	13	6	10	0	4	3	3	2	1	1	5	3	5	3	1	1	2	2	1	1	3	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:201846546G>A	ENST00000418596.3	-	12	1227	c.1040C>T	c.(1039-1041)gCa>gTa	p.A347V	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	347						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TCCTTCATCTGCATCATTCAG	0.443																																																	0													78	77	77					2																	201846546		2203	4300	6503	SO:0001583	missense	0			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1040C>T	2.37:g.201846546G>A	ENSP00000393667:p.Ala347Val		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.A347V	ENST00000418596.3	37	c.1040	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	G	6.499	0.460327	0.12342	.	.	ENSG00000155744	ENST00000418596	T	0.76316	-1.01	5.86	5.86	0.93980	.	0.053051	0.85682	D	0.000000	T	0.60573	0.2279	N	0.04508	-0.205	0.58432	D	0.999999	P;P	0.47762	0.9;0.759	B;B	0.42214	0.38;0.259	T	0.62253	-0.6893	10	0.10377	T	0.69	-16.2935	20.2019	0.98263	0.0:0.0:1.0:0.0	.	153;347	B3KUG1;Q8IXS8	.;F126B_HUMAN	V	347	ENSP00000393667:A347V	ENSP00000393667:A347V	A	-	2	0	FAM126B	201554791	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.188000	0.94921	2.776000	0.95493	0.655000	0.94253	GCA	FAM126B	-	NULL	ENSG00000155744		0.443	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	-	0	19	0	G	NM_173822		201846546	-1	tier1	-	no_errors	ENST00000418596	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	A	A	201846546	G	A	201846546	3	1	15	1	0	0	0	0	1	0	0	0	5449	1319	46	3	556	3	FAM126B	2	201846546	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	376237	201846546	41352827	26	4522											
CCL20	6364	genome.wustl.edu	37	chr2	228680209	228680209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcttggatacacagaccGtattcttcatcctaaattta	11	15	5	10	1	3	1	1	0	2	1	4	2	4	2	2	1	1	1	2	1	5	8			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:228680209G>T	ENST00000358813.4	+	2	174	c.116G>T	c.(115-117)cGt>cTt	p.R39L	CCL20_ENST00000473642.1_3'UTR|CCL20_ENST00000409189.3_Missense_Mutation_p.R38L			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	39					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TACACAGACCGTATTCTTCAT	0.368																																																	0													122	131	127					2																	228680209		2203	4300	6503	SO:0001583	missense	0			D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"Chemokine ligands", "Endogenous ligands"	10619	protein-coding gene	gene with protein product		601960	"small inducible cytokine subfamily A (Cys-Cys), member 20"	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.116G>T	2.37:g.228680209G>T	ENSP00000351671:p.Arg39Leu		Q53S51|Q99664	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R39L	ENST00000358813.4	37	c.116	CCDS2469.1	2	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785600	0.31593	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.05925	3.37;3.37	4.74	-7.61	0.01299	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	2.082580	0.01863	N	0.036732	T	0.06554	0.0168	.	.	.	0.09310	N	1	B;B	0.32071	0.306;0.355	B;B	0.32805	0.095;0.153	T	0.22941	-1.0202	9	0.48119	T	0.1	8.4958	15.1427	0.72623	0.3105:0.0:0.6895:0.0	.	38;39	P78556-2;P78556	.;CCL20_HUMAN	L	38;39	ENSP00000386273:R38L;ENSP00000351671:R39L	ENSP00000351671:R39L	R	+	2	0	CCL20	228388453	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-3.934000	0.00331	-1.182000	0.02727	-0.455000	0.05494	CGT	CCL20	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000115009		0.368	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL20	HGNC	protein_coding	OTTHUMT00000331641.1	-	0	19	0	G	NM_004591		228680209	1	tier1	-	no_errors	ENST00000358813	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.000	T	T	228680209	G	T	228680209	3	4	15	1	0	0	0	0	1	0	0	0	2899	1145	40	2	122	2	CCL20	2	228680209	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	26833663	228680209	14519164	27	4523											
GIGYF2	26058	genome.wustl.edu	37	chr2	233651989	233651989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgaagatggaggttggcGactagctggatcaaggaggg	12	7	18	4	1	1	3	1	1	0	2	1	7	1	6	0	6	1	2	0	6	3	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:233651989G>A	ENST00000409547.1	+	11	973	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	GIGYF2_ENST00000409480.1_Missense_Mutation_p.R243Q|GIGYF2_ENST00000373566.3_Missense_Mutation_p.R243Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R221Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R243Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R221Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R52Q	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	221	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGAGGTTGGCGACTAGCTGGA	0.453																																																	0													122	124	123					2																	233651989		2203	4300	6503	SO:0001583	missense	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.662G>A	2.37:g.233651989G>A	ENSP00000386537:p.Arg221Gln		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.R243Q	ENST00000409547.1	37	c.728	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.519430	0.96416	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	D;T;D;T;T;T;D;D;T;T	0.85629	-2.01;-1.46;-2.01;-1.46;-1.29;-1.35;-2.01;-1.51;-1.48;-1.17	5.83	5.83	0.93111	.	0.067711	0.64402	D	0.000019	D	0.91784	0.7401	M	0.61703	1.905	0.51767	D	0.999939	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.986;0.995;0.978;0.991	D	0.91707	0.5378	10	0.72032	D	0.01	-12.4963	20.1152	0.97926	0.0:0.0:1.0:0.0	.	52;243;221;221	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	Q	243;170;221;243;221;221;170;221;243;221;52;52;48	ENSP00000362667:R243Q;ENSP00000362664:R221Q;ENSP00000386765:R243Q;ENSP00000386537:R221Q;ENSP00000404195:R170Q;ENSP00000387070:R221Q;ENSP00000387170:R243Q;ENSP00000410297:R221Q;ENSP00000392218:R52Q;ENSP00000411505:R52Q	ENSP00000362664:R221Q	R	+	2	0	GIGYF2	233360233	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	7.400000	0.79949	2.750000	0.94351	0.655000	0.94253	CGA	GIGYF2	-	NULL	ENSG00000204120		0.453	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0	46	0	G	NM_001103146		233651989	1	tier1	-	no_errors	ENST00000373566	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.999	A	A	233651989	G	A	233651989	3	1	15	1	0	0	0	0	1	0	0	0	6404	1058	37	1	758	1	GIGYF2	2	233651989	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	4971780	233651989	9547384	28	4524											
COL6A3	1293	genome.wustl.edu	37	chr2	238280601	238280601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctccaccgccgggtcGtccacctcatcgtcagactt	6	10	9	16	4	2	2	2	1	0	1	6	2	4	2	5	1	1	1	5	1	0	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr2:238280601G>A	ENST00000295550.4	-	9	4511	c.4059C>T	c.(4057-4059)gaC>gaT	p.D1353D	COL6A3_ENST00000346358.4_Silent_p.D1153D|COL6A3_ENST00000392003.2_Silent_p.D946D|COL6A3_ENST00000353578.4_Silent_p.D1147D|COL6A3_ENST00000392004.3_Silent_p.D1147D|COL6A3_ENST00000409809.1_Silent_p.D1147D|COL6A3_ENST00000347401.3_Silent_p.D1152D|COL6A3_ENST00000472056.1_Silent_p.D746D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1353	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.			DD -> VV (in Ref. 1; CAA36267). {ECO:0000305}.	axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGCCGGGTCGTCCACCTCAT	0.612																																																	0													41	38	39					2																	238280601		2203	4300	6503	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4059C>T	2.37:g.238280601G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1353	ENST00000295550.4	37	c.4059	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	35	0	G	NM_004369		238280601	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.000	A	A	238280601	G	A	238280601	2	1	15	1	0	0	0	0	0	0	0	1	3708	1136	40	1		1	COL6A3	2	238280601	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	4628612	238280601	4918772	29	4525											
PSMD6	9861	genome.wustl.edu	37	chr3	64004295	64004295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgattggaagaaaacaGagtaacggcattcatagagt	17	9	10	5	1	1	4	1	1	0	3	1	5	1	5	0	2	2	2	0	2	6	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr3:64004295G>T	ENST00000295901.4	-	5	946	c.806C>A	c.(805-807)tCt>tAt	p.S269Y	PSMD6_ENST00000394431.2_Missense_Mutation_p.S231Y|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000482510.1_Missense_Mutation_p.S230Y|PSMD6_ENST00000492933.1_Missense_Mutation_p.S322Y|RP11-245J9.4_ENST00000462717.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	269	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GAAGAAAACAGAGTAACGGCA	0.373																																																	0													81	75	77					3																	64004295		2203	4299	6502	SO:0001583	missense	0			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"Proteasome (prosome, macropain) subunits"	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.806C>A	3.37:g.64004295G>T	ENSP00000295901:p.Ser269Tyr		A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.S269Y	ENST00000295901.4	37	c.806	CCDS2901.1	3	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165031	0.57476	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.94	5.94	0.96194	Proteasome component (PCI) domain (1);	0.179095	0.51477	D	0.000098	T	0.47893	0.1470	L	0.52126	1.63	0.54753	D	0.999984	P;B;P;B	0.48911	0.808;0.046;0.917;0.173	P;B;P;B	0.53266	0.447;0.063;0.722;0.389	T	0.39375	-0.9617	10	0.66056	D	0.02	.	15.8014	0.78456	0.0:0.1353:0.8647:0.0	.	231;230;322;269	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	Y	269;322;231;230	ENSP00000295901:S269Y;ENSP00000418695:S322Y;ENSP00000377952:S231Y;ENSP00000419227:S230Y	ENSP00000295901:S269Y	S	-	2	0	PSMD6	63979335	1.000000	0.71417	0.871000	0.34182	0.732000	0.41865	7.884000	0.87274	2.826000	0.97356	0.561000	0.74099	TCT	PSMD6	-	pfam_PCI_dom	ENSG00000163636		0.373	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD6	HGNC	protein_coding	OTTHUMT00000352082.1		0	28	0	G	NM_014814		64004295	-1			no_errors	ENST00000295901	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.998	T	T	64004295	G	T	64004295	3	4	15	1	0	0	0	0	1	0	0	0	12744	942	33	3	379	3	PSMD6	3	64004295	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		64004295	134018135	30	4526											
TIGIT	201633	genome.wustl.edu	37	chr3	114018535	114018535	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagtcatcgtggtggtCgcgttgactagaaaggtaat	11	10	13	7	3	1	2	1	1	0	1	3	2	1	2	0	3	1	3	0	3	3	3	rs372970765		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr3:114018535C>A	ENST00000486257.1	+	4	740	c.483C>A	c.(481-483)gtC>gtA	p.V161V	TIGIT_ENST00000481065.1_Silent_p.V228V|TIGIT_ENST00000383671.3_Silent_p.V161V			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	161					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TCGTGGTGGTCGCGTTGACTA	0.602																																																	0													72	59	63					3																	114018535		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"Immunoglobulin superfamily / V-set domain containing"	26838	protein-coding gene	gene with protein product		612859	"V-set and immunoglobulin domain containing 9", "V-set and transmembrane domain containing 3"	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.483C>A	3.37:g.114018535C>A			Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.V161	ENST00000486257.1	37	c.483	CCDS2980.1	3																																																																																			TIGIT	-	NULL	ENSG00000181847		0.602	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGIT	HGNC	protein_coding	OTTHUMT00000354690.1	-	0	34	0	C	NM_173799		114018535	1	tier1	-	no_errors	ENST00000383671	ensembl	human	known	74_37	silent	56.92	28	37	SNP	0.000	A	A	114018535	C	A	114018535	2	1	15	1	0	0	0	0	0	0	0	1	15949	871	31	2		2	TIGIT	3	114018535	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	50014240	114018535	84003895	31	4527											
SLC12A8	84561	genome.wustl.edu	37	chr3	124854513	124854513	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacccagattacaatacCtgtagccgctgggaagaaaa	17	6	9	9	1	0	3	0	0	0	3	0	4	0	4	3	1	4	2	3	1	9	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr3:124854513C>A	ENST00000393469.4	-	5	785	c.736G>T	c.(736-738)Gga>Tga	p.G246*	SLC12A8_ENST00000423114.2_Splice_Site_p.G275*|SLC12A8_ENST00000314584.7_De_novo_Start_OutOfFrame|SLC12A8_ENST00000469902.1_Splice_Site_p.G246*	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	246					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						ATTACAATACCTGTAGCCGCT	0.448																																																	0													49	47	48					3																	124854513		1838	4093	5931	SO:0001630	splice_region_variant	0				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"Solute carriers"	15595	protein-coding gene	gene with protein product	"solute carrier family 12 (sodium/potassium/chloride transporters), member 8", "cation-chloride cotransporter 9"	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.736+1G>T	3.37:g.124854513C>A			C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Nonsense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,superfamily_ABC1_TM_dom	p.G275*	ENST00000393469.4	37	c.823	CCDS43143.1	3	.	.	.	.	.	.	.	.	.	.	c	36	5.664565	0.96745	.	.	ENSG00000221955	ENST00000393469;ENST00000423114;ENST00000469902;ENST00000479826	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6479	0.77068	0.0:1.0:0.0:0.0	.	.	.	.	X	246;275;246;128	.	.	G	-	1	0	SLC12A8	126337203	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.441000	0.73439	2.664000	0.90586	0.550000	0.68814	GGA	SLC12A8	-	pfam_AA-permease/SLC12A_dom	ENSG00000221955		0.448	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	-	0	26	0	C	NM_024628	Nonsense_Mutation	124854513	-1	tier1	-	no_errors	ENST00000423114	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	A	A	124854513	C	A	124854513	5	1	15	1	0	0	0	0	0	0	1	0	14434	695	24	3	1444	3	SLC12A8	3	124854513	Splice_Site	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	10835978	124854513	73167917	32	4528											
WWTR1	25937	genome.wustl.edu	37	chr3	149290715	149290715	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtggaactgacggcagggtgGaggttcatatgattcagagg	10	9	17	5	1	2	3	2	2	0	1	2	5	2	5	0	6	1	2	0	6	2	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr3:149290715G>C	ENST00000465804.1	-	4	760	c.504C>G	c.(502-504)ctC>ctG	p.L168L	WWTR1_ENST00000467467.1_Silent_p.L168L|WWTR1_ENST00000360632.3_Silent_p.L168L	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	168					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CGGCAGGGTGGAGGTTCATAT	0.418			T	CAMTA1	epitheliod hemangioendothelioma																																			Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													141	130	134					3																	149290715		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.504C>G	3.37:g.149290715G>C			D3DNH7|Q8N3P2|Q9Y3W6	Silent	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.L168	ENST00000465804.1	37	c.504	CCDS3144.1	3																																																																																			WWTR1	-	NULL	ENSG00000018408		0.418	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWTR1	HGNC	protein_coding	OTTHUMT00000356498.1	-	0	100	0	G	NM_015472		149290715	-1	tier1	-	no_errors	ENST00000360632	ensembl	human	known	74_37	silent	14.29	138	23	SNP	1.000	C	C	149290715	G	C	149290715	2	2	15	1	0	0	0	0	0	0	0	1	17466	1161	41	5		5	WWTR1	3	149290715	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	24436202	149290715	48731715	33	4529											
IGSF10	285313	genome.wustl.edu	37	chr3	151165454	151165454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcactgtggtattttctCgcttgtctggcatagcattc	5	16	10	10	1	3	0	1	0	2	0	5	0	3	0	0	3	1	5	0	3	2	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr3:151165454C>T	ENST00000282466.3	-	4	2314	c.2315G>A	c.(2314-2316)cGa>cAa	p.R772Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	772					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTATTTTCTCGCTTGTCTGG	0.507																																																	0													83	76	78					3																	151165454		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2315G>A	3.37:g.151165454C>T	ENSP00000282466:p.Arg772Gln		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R772Q	ENST00000282466.3	37	c.2315	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	9.154	1.017072	0.19355	.	.	ENSG00000152580	ENST00000282466	T	0.66280	-0.2	5.31	-10.6	0.00265	.	1.818850	0.03473	N	0.213939	T	0.26231	0.0640	N	0.02802	-0.49	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.10894	-1.0610	10	0.09084	T	0.74	.	5.6045	0.17371	0.1391:0.1412:0.1386:0.581	.	772	Q6WRI0	IGS10_HUMAN	Q	772	ENSP00000282466:R772Q	ENSP00000282466:R772Q	R	-	2	0	IGSF10	152648144	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.589000	0.00900	-2.407000	0.00574	-0.218000	0.12543	CGA	IGSF10	-	NULL	ENSG00000152580		0.507	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	54	0	C	NM_178822		151165454	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	5.79	114	7	SNP	0.000	T	T	151165454	C	T	151165454	3	4	15	1	0	0	0	0	1	0	0	0	7624	884	31	1	5616	1	IGSF10	3	151165454	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	1874739	151165454	46856976	34	4530											
TNIK	23043	genome.wustl.edu	37	chr3	170846630	170846630	+	Frame_Shift_Del	DEL	G	G	-																															caaccttgtgaggcatggcaGgggaactttgccggttgagc																										TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr3:170846630delG	ENST00000436636.2	-	16	1990	c.1646delC	c.(1645-1647)cctfs	p.P549fs	TNIK_ENST00000369326.5_Frame_Shift_Del_p.P520fs|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000284483.8_Frame_Shift_Del_p.P549fs|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000357327.5_Frame_Shift_Del_p.P520fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.P520fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	549	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGGCATGGCAGGGGAACTTTG	0.483																																																	0													54	57	56					3																	170846630		1947	4147	6094	SO:0001589	frameshift_variant	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1646delC	3.37:g.170846630delG	ENSP00000399511:p.Pro549fs		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.P549fs	ENST00000436636.2	37	c.1646	CCDS46956.1	3																																																																																			TNIK	-	NULL	ENSG00000154310		0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2		0	11	0	G	XM_039796		170846630	-1	tier1		no_errors	ENST00000436636	ensembl	human	known	74_37	frame_shift_del	64.71	6	11	DEL	1.000	-	-	170846630	G	-	170846630	7	5	15	1	0	1	0	1	0	0	0	0	16360	1000	35	0	2508	0	TNIK	3	170846630	Frame_Shift_Del	DEL	G	TCGA-IG-A3I8-01A-11D-A247-09	19681176	170846630	27175800	35	4531											
RAB33B	83452	genome.wustl.edu	37	chr4	140394184	140394184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatgaccttggctcataaGcttaagagccacaaaccatt	13	12	6	10	0	1	2	1	1	0	1	1	2	1	2	3	1	3	2	3	1	4	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr4:140394184G>T	ENST00000305626.5	+	2	983	c.594G>T	c.(592-594)aaG>aaT	p.K198N		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	198					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					TGGCTCATAAGCTTAAGAGCC	0.413																																																	0													99	97	98					4																	140394184		2203	4300	6503	SO:0001583	missense	0			AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"RAB, member RAS oncogene"	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.594G>T	4.37:g.140394184G>T	ENSP00000306496:p.Lys198Asn		B2R987|Q4W5B0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K198N	ENST00000305626.5	37	c.594	CCDS3747.1	4	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563490	0.65651	.	.	ENSG00000172007	ENST00000305626	T	0.77750	-1.12	5.82	3.07	0.35406	.	0.042072	0.85682	D	0.000000	T	0.74038	0.3664	N	0.11845	0.185	0.58432	D	0.999993	D	0.60160	0.987	D	0.66497	0.944	T	0.74112	-0.3770	10	0.66056	D	0.02	.	9.2631	0.37625	0.2845:0.0:0.7155:0.0	.	198	Q9H082	RB33B_HUMAN	N	198	ENSP00000306496:K198N	ENSP00000306496:K198N	K	+	3	2	RAB33B	140613634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.353000	0.44089	0.325000	0.23359	0.561000	0.74099	AAG	RAB33B	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase	ENSG00000172007		0.413	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33B	HGNC	protein_coding	OTTHUMT00000257235.2	-	0	24	0	G	NM_031296		140394184	1	tier1	-	no_errors	ENST00000305626	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	T	T	140394184	G	T	140394184	3	4	15	1	0	0	0	0	1	0	0	0	12968	962	34	3	600	3	RAB33B	4	140394184	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		140394184	50760092	36	4532											
OTUD4	54726	genome.wustl.edu	37	chr4	146059597	146059597	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggctgtggcatttgaccaTtaacactggcctcagtctgc	7	12	10	12	0	2	1	1	1	1	0	2	1	2	1	2	3	2	2	2	3	1	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr4:146059597T>A	ENST00000447906.2	-	21	2517	c.2330A>T	c.(2329-2331)aAt>aTt	p.N777I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.N712I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	777					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CATTTGACCATTAACACTGGC	0.483																																																	0													94	84	87					4																	146059597		2203	4300	6503	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2330A>T	4.37:g.146059597T>A	ENSP00000395487:p.Asn777Ile		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.N777I	ENST00000447906.2	37	c.2330		4	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012487	0.75161	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.36520	1.26;1.25	5.79	5.79	0.91817	.	0.139589	0.50627	D	0.000115	T	0.49915	0.1585	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.942	T	0.52245	-0.8601	10	0.87932	D	0	-22.5476	16.1175	0.81319	0.0:0.0:0.0:1.0	.	777;776	G3V0I6;Q01804	.;OTUD4_HUMAN	I	712;777	ENSP00000409279:N712I;ENSP00000395487:N777I	ENSP00000395487:N777I	N	-	2	0	OTUD4	146279047	0.983000	0.35010	1.000000	0.80357	0.983000	0.72400	2.976000	0.49289	2.211000	0.71520	0.460000	0.39030	AAT	OTUD4	-	NULL	ENSG00000164164		0.483	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	-	0	64	0	T	NM_017493		146059597	-1	tier1	-	no_errors	ENST00000447906	ensembl	human	known	74_37	missense	23.94	54	17	SNP	1.000	A	A	146059597	T	A	146059597	3	1	15	1	0	0	0	0	1	0	0	0	11353	1493	52	5	1018	5	OTUD4	4	146059597	Missense_Mutation	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	5665413	146059597	45094679	37	4533											
TDO2	6999	genome.wustl.edu	37	chr4	156831333	156831333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactgctacttaaatctgaGcaggaaaagacacttctgga	15	9	9	8	0	2	2	0	1	2	1	2	5	2	4	0	2	4	2	0	2	6	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr4:156831333G>A	ENST00000536354.2	+	6	652	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		TTAAATCTGAGCAGGAAAAGA	0.328																																					Colon(57;928 1036 2595 6946 26094)												0													65	69	68					4																	156831333		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.588G>A	4.37:g.156831333G>A				Silent	SNP	pfam_Trp_2_3_dOase	p.E196	ENST00000536354.2	37	c.588	CCDS34086.1	4																																																																																			TDO2	-	pfam_Trp_2_3_dOase	ENSG00000151790		0.328	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDO2	HGNC	protein_coding	OTTHUMT00000366209.3	-	0	14	0	G	NM_005651		156831333	1	tier1	-	no_errors	ENST00000536354	ensembl	human	known	74_37	silent	30.43	16	7	SNP	1.000	A	A	156831333	G	A	156831333	2	1	15	1	0	0	0	0	0	0	0	1	15774	962	34	3		3	TDO2	4	156831333	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	10771736	156831333	34322943	38	4534											
MAP3K1	4214	genome.wustl.edu	37	chr5	56189381	56189381	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagtgcaactactgctccAtcgatcccttcacatttgtc	8	13	6	14	1	1	0	1	0	0	0	5	1	3	0	2	0	4	3	2	0	3	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr5:56189381A>G	ENST00000399503.3	+	20	4413	c.4413A>G	c.(4411-4413)ccA>ccG	p.P1471P		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1471	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CTACTGCTCCATCGATCCCTT	0.448																																																	0													129	124	126					5																	56189381		1992	4159	6151	SO:0001819	synonymous_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4413A>G	5.37:g.56189381A>G				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.P1471	ENST00000399503.3	37	c.4413	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000095015		0.448	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0	27	0	A	XM_042066		56189381	1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	silent	66.67	8	16	SNP	0.804	G	G	56189381	A	G	56189381	2	3	15	1	0	0	0	0	0	0	0	1	9281	204	8	4		4	MAP3K1	5	56189381	Silent	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09		56189381	124725879	39	4535											
JMY	133746	genome.wustl.edu	37	chr5	78610246	78610246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaggaagagtcaagcGtgggccatcacagacaacag	15	3	15	8	1	2	3	2	0	0	3	2	5	2	4	1	3	2	0	1	3	4	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr5:78610246G>A	ENST00000396137.4	+	9	2693	c.2231G>A	c.(2230-2232)cGt>cAt	p.R744H	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	744					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGAGTCAAGCGTGGGCCATCA	0.468																																																	0													131	141	138					5																	78610246		2131	4251	6382	SO:0001583	missense	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2231G>A	5.37:g.78610246G>A	ENSP00000379441:p.Arg744His		A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	pfscan_WH2_dom	p.R744H	ENST00000396137.4	37	c.2231	CCDS4047.3	5	.	.	.	.	.	.	.	.	.	.	G	3.077	-0.189781	0.06299	.	.	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.74315	-0.83	4.36	0.517	0.17025	.	1.578950	0.04125	N	0.316954	T	0.49115	0.1538	N	0.08118	0	0.09310	N	1	P	0.39782	0.688	B	0.34722	0.188	T	0.44143	-0.9347	10	0.39692	T	0.17	.	0.5582	0.00674	0.166:0.2423:0.1884:0.4034	.	744	Q8N9B5	JMY_HUMAN	H	744	ENSP00000379441:R744H	ENSP00000282259:R744H	R	+	2	0	JMY	78646002	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.249000	0.18216	-0.156000	0.11079	-1.623000	0.00790	CGT	JMY	-	NULL	ENSG00000152409		0.468	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4		0	37	0	G	NM_152405		78610246	1			no_errors	ENST00000396137	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	A	A	78610246	G	A	78610246	3	1	15	1	0	0	0	0	1	0	0	0	7984	1145	40	1	2265	1	JMY	5	78610246	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	22420865	78610246	102305014	40	4536											
CDYL	9425	genome.wustl.edu	37	chr6	4954289	4954289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggaagatcgatgagttctGagtgtcgggctgcccactgg	8	9	16	8	2	1	3	0	2	1	1	3	6	1	4	1	3	1	2	1	3	1	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr6:4954289G>A	ENST00000328908.5	+	9	1927	c.1796G>A	c.(1795-1797)tGa>tAa	p.*599*	CDYL_ENST00000343762.5_Silent_p.*413*|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.*545*|CDYL_ENST00000449732.2_Silent_p.*413*			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	0					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GATGAGTTCTGAGTGTCGGGC	0.567																																																	0													79	73	75					6																	4954289		2203	4300	6503	SO:0001819	synonymous_variant	0			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1796G>A	6.37:g.4954289G>A			A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.*599	ENST00000328908.5	37	c.1796		6																																																																																			CDYL	-	NULL	ENSG00000153046		0.567	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1		0	25	0	G	NM_004824		4954289	1			no_errors	ENST00000328908	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.999	A	A	4954289	G	A	4954289	2	1	15	1	0	0	0	0	0	0	0	1	3192	1285	45	3		3	CDYL	6	4954289	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		4954289	166160778	41	4537											
NRSN1	140767	genome.wustl.edu	37	chr6	24145969	24145969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctgcattggaggcaCgtccatggcagggtgcctgc	5	11	13	12	1	2	0	0	0	2	0	4	1	3	1	2	4	3	3	2	4	0	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr6:24145969C>T	ENST00000378491.4	+	4	684	c.383C>T	c.(382-384)aCg>aTg	p.T128M		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						ATTGGAGGCACGTCCATGGCA	0.488																																																	0													96	84	88					6																	24145969		2203	4300	6503	SO:0001583	missense	0			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.383C>T	6.37:g.24145969C>T	ENSP00000367752:p.Thr128Met			Missense_Mutation	SNP	NULL	p.T128M	ENST00000378491.4	37	c.383	CCDS4549.1	6	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048845	0.36181	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.17528	2.27	5.37	2.16	0.27623	.	0.146770	0.64402	D	0.000010	T	0.04907	0.0132	L	0.33485	1.01	0.80722	D	1	B	0.26902	0.163	B	0.15484	0.013	T	0.21245	-1.0251	10	0.34782	T	0.22	-7.8784	11.7034	0.51583	0.0:0.7726:0.0:0.2274	.	128	Q8IZ57	NRSN1_HUMAN	M	128	ENSP00000367752:T128M	ENSP00000367738:T128M	T	+	2	0	NRSN1	24253948	0.812000	0.29077	0.770000	0.31555	0.959000	0.62525	1.549000	0.36212	0.653000	0.30826	0.557000	0.71058	ACG	NRSN1	-	NULL	ENSG00000152954		0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN1	HGNC	protein_coding	OTTHUMT00000043866.1	-	0	48	0	C	NM_080723		24145969	1	tier1	-	no_errors	ENST00000378491	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.819	T	T	24145969	C	T	24145969	3	4	15	1	0	0	0	0	1	0	0	0	10701	536	19	1	389	1	NRSN1	6	24145969	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	19191680	24145969	146969098	42	4538											
BRD2	6046	genome.wustl.edu	37	chr6	32947844	32947844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttgaaacactcaagccatCcacacttagagagcttgagc	13	10	7	11	0	1	3	1	2	0	1	2	4	2	3	2	0	4	1	2	0	3	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr6:32947844C>T	ENST00000374825.4	+	11	3782	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	BRD2_ENST00000449085.2_Missense_Mutation_p.S647F|BRD2_ENST00000443797.2_Missense_Mutation_p.S574F|BRD2_ENST00000395289.2_Missense_Mutation_p.S729F|BRD2_ENST00000374831.4_Missense_Mutation_p.S694F|BRD2_ENST00000395287.1_Missense_Mutation_p.S729F	NM_005104.3	NP_005095.1	P25440	BRD2_HUMAN	bromodomain containing 2	694	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				chromatin modification (GO:0016568)|nucleosome assembly (GO:0006334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(3)|stomach(2)	5						CTCAAGCCATCCACACTTAGA	0.468																																																	0													76	77	77					6																	32947844		1509	2707	4216	SO:0001583	missense	0			X96670	CCDS4762.1, CCDS56420.1, CCDS56421.1	6p21.3	2010-12-23	2002-01-14		ENSG00000204256	ENSG00000204256			1103	protein-coding gene	gene with protein product		601540	"bromodomain-containing 2"			1352711, 8781126	Standard	NM_005104		Approved	KIAA9001, RING3, D6S113E, NAT, FSRG1	uc021ywf.1	P25440	OTTHUMG00000031241	ENST00000374825.4:c.2081C>T	6.37:g.32947844C>T	ENSP00000363958:p.Ser694Phe		A2AAU0|B0S7P0|B1AZT1|O00699|O00700|Q15310|Q5STC9|Q63HQ9|Q658Y7|Q6P3U2|Q969U4	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S729F	ENST00000374825.4	37	c.2186	CCDS4762.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.963192|4.963192	0.92791|0.92791	.|.	.|.	ENSG00000204256|ENSG00000204256	ENST00000449025|ENST00000374825;ENST00000374831;ENST00000395289;ENST00000443797;ENST00000395287;ENST00000449085	.|T;T;T;T;T;T	.|0.49139	.|0.79;0.79;0.79;0.79;0.79;0.79	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.49916	.|D	.|0.000131	T|T	0.69061|0.69061	0.3069|0.3069	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.995	.|D;D	.|0.78314	.|0.991;0.979	T|T	0.73467|0.73467	-0.3973|-0.3973	5|10	.|0.87932	.|D	.|0	-15.4865|-15.4865	16.9633|16.9633	0.86278|0.86278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|729;694	.|A2AAU0;P25440	.|.;BRD2_HUMAN	S|F	700|694;694;729;574;729;647	.|ENSP00000363958:S694F;ENSP00000363964:S694F;ENSP00000378704:S729F;ENSP00000413495:S574F;ENSP00000378702:S729F;ENSP00000409145:S647F	.|ENSP00000363958:S694F	P|S	+|+	1|2	0|0	BRD2|BRD2	33055822|33055822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.637000|7.637000	0.83313|0.83313	2.873000|2.873000	0.98535|0.98535	0.643000|0.643000	0.83706|0.83706	CCA|TCC	BRD2	-	NULL	ENSG00000204256		0.468	BRD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD2	HGNC	protein_coding	OTTHUMT00000076503.2	-	0	19	0	C			32947844	1	tier1	-	no_errors	ENST00000395289	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	T	T	32947844	C	T	32947844	3	4	15	1	0	0	0	0	1	0	0	0	1506	855	30	3	2119	3	BRD2	6	32947844	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	8801875	32947844	138167223	43	4539											
DST	667	genome.wustl.edu	37	chr6	56494092	56494092	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgccacctttcaactaaTtgatctgctttttctttgtg	6	21	5	9	0	3	1	1	1	2	0	3	1	3	1	2	0	3	1	2	0	2	8			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr6:56494092T>C	ENST00000361203.3	-	28	3805	c.3798A>G	c.(3796-3798)caA>caG	p.Q1266Q	DST_ENST00000421834.2_Silent_p.Q1266Q|DST_ENST00000370769.4_Silent_p.Q1266Q|DST_ENST00000446842.2_Silent_p.Q940Q|DST_ENST00000370765.6_Silent_p.Q940Q|DST_ENST00000312431.6_Silent_p.Q1266Q|DST_ENST00000370788.2_Silent_p.Q1266Q|DST_ENST00000370754.5_Silent_p.Q1444Q|DST_ENST00000518935.1_Silent_p.Q940Q|DST_ENST00000244364.6_Silent_p.Q940Q			Q03001	DYST_HUMAN	dystonin	1266					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTCAACTAATTGATCTGCTT	0.353																																																	0													288	239	256					6																	56494092		2203	4300	6503	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3798A>G	6.37:g.56494092T>C			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q1444	ENST00000361203.3	37	c.4332		6																																																																																			DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	63	0	T	NM_001723		56494092	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	49.33	38	37	SNP	0.988	C	C	56494092	T	C	56494092	2	2	15	1	0	0	0	0	0	0	0	1	4797	1490	52	4		4	DST	6	56494092	Silent	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	23546248	56494092	114620975	44	4540											
HTR1E	3354	genome.wustl.edu	37	chr6	87725546	87725546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggagaagccaccgccGcctaagccctccccctagtc	7	7	9	18	2	1	1	0	0	1	1	3	2	2	1	7	1	2	1	7	1	3	3	rs373132619		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr6:87725546G>A	ENST00000305344.5	+	2	1197	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	165					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AGCCACCGCCGCCTAAGCCCT	0.547																																																	0								G	HIS/ARG	0,4406		0,0,2203	103	96	99		494	-7.9	0.5	6		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	HTR1E	NM_000865.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	165/366	87725546	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.494G>A	6.37:g.87725546G>A	ENSP00000307766:p.Arg165His		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R165H	ENST00000305344.5	37	c.494	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	G	11.70	1.716608	0.30413	0.0	1.16E-4	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.72394	-0.65;-0.65	4.26	-7.87	0.01183	GPCR, rhodopsin-like superfamily (1);	1.926230	0.03766	U	0.259050	T	0.27241	0.0668	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.15925	-1.0420	10	0.33141	T	0.24	.	6.2194	0.20673	0.2616:0.0:0.4907:0.2477	.	165	P28566	5HT1E_HUMAN	H	165	ENSP00000307766:R165H;ENSP00000358597:R165H	ENSP00000307766:R165H	R	+	2	0	HTR1E	87782265	0.001000	0.12720	0.479000	0.27329	0.765000	0.43378	-0.130000	0.10498	-0.671000	0.05274	0.404000	0.27445	CGC	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000168830		0.547	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0	31	0	G	NM_000865		87725546	1	tier1	-	no_errors	ENST00000305344	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.080	A	A	87725546	G	A	87725546	3	1	15	1	0	0	0	0	1	0	0	0	7466	1087	38	1	496	1	HTR1E	6	87725546	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	31231454	87725546	83389521	45	4541											
AKD1	221264	genome.wustl.edu	37	chr6	109854548	109854548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttgggcaggaaggaggCgatcaaaaatatcttgatca	15	9	11	6	1	3	1	2	1	1	0	3	4	3	3	0	4	0	1	0	4	5	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr6:109854548C>T	ENST00000424296.2	-	28	3552	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	AK9_ENST00000341338.6_Missense_Mutation_p.R238H|AK9_ENST00000355283.1_Missense_Mutation_p.R238H	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1159	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGGAAGGAGGCGATCAAAAAT	0.383																																																	0													154	139	144					6																	109854548		2203	4300	6503	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3476G>A	6.37:g.109854548C>T	ENSP00000410186:p.Arg1159His		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1159H	ENST00000424296.2	37	c.3476	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.777801|4.777801	0.90195|0.90195	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000491875|ENST00000424296;ENST00000355283;ENST00000341338	.|D;D;D	.|0.87029	.|-2.2;-2.2;-2.2	5.16|5.16	5.16|5.16	0.70880|0.70880	.|ATPase, AAA+ type, core (1);	.|0.106561	.|0.64402	.|N	.|0.000003	D|D	0.93579|0.93579	0.7950|0.7950	M|M	0.85542|0.85542	2.76|2.76	0.40156|0.40156	D|D	0.977004|0.977004	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.93478|0.93478	0.6825|0.6825	5|9	.|.	.|.	.|.	.|.	19.0135|19.0135	0.92884|0.92884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|238;1159	.|Q5TCS8-5;Q5TCS8	.|.;AKD1_HUMAN	T|H	94|1159;238;238	.|ENSP00000410186:R1159H;ENSP00000347431:R238H;ENSP00000344637:R238H	.|.	A|R	-|-	1|2	0|0	AKD1|AKD1	109961241|109961241	0.997000|0.997000	0.39634|0.39634	0.948000|0.948000	0.38648|0.38648	0.797000|0.797000	0.45037|0.45037	3.813000|3.813000	0.55636|0.55636	2.579000|2.579000	0.87056|0.87056	0.549000|0.549000	0.68633|0.68633	GCC|CGC	AK9	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000155085		0.383	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0	50	0	C	NM_001145128		109854548	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	26.09	33	12	SNP	0.997	T	T	109854548	C	T	109854548	3	4	15	1	0	0	0	0	1	0	0	0	460	768	27	1	2315	1	AKD1	6	109854548	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	22129002	109854548	61260519	46	4542											
SYTL3	94120	genome.wustl.edu	37	chr6	159178395	159178395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaacacagtccttccgctgGcatccgctccgggccaaggt	8	7	10	16	3	0	0	0	0	0	0	4	0	4	0	5	3	1	3	5	3	2	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr6:159178395G>T	ENST00000297239.9	+	13	1484	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	SYTL3_ENST00000360448.3_Missense_Mutation_p.W362C|SYTL3_ENST00000367081.3_Missense_Mutation_p.W156C			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	430					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CCTTCCGCTGGCATCCGCTCC	0.532																																																	0													90	77	82					6																	159178395		2203	4300	6503	SO:0001583	missense	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.1290G>T	6.37:g.159178395G>T	ENSP00000297239:p.Trp430Cys		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.W430C	ENST00000297239.9	37	c.1290	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441462	0.43326	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239;ENST00000367081	T;T;T	0.12984	2.63;2.63;2.63	5.07	5.07	0.68467	C2 calcium/lipid-binding domain, CaLB (1);	0.213328	0.43416	D	0.000571	T	0.26593	0.0650	M	0.74881	2.28	0.80722	D	1	P;P;D	0.54772	0.876;0.908;0.968	B;B;P	0.58210	0.409;0.338;0.835	T	0.03684	-1.1013	10	0.72032	D	0.01	.	18.4301	0.90622	0.0:0.0:1.0:0.0	.	156;430;362	F8W7H4;Q4VX76;Q4VX76-2	.;SYTL3_HUMAN;.	C	362;430;430;156	ENSP00000353631:W362C;ENSP00000297239:W430C;ENSP00000356048:W156C	ENSP00000297239:W430C	W	+	3	0	SYTL3	159098383	1.000000	0.71417	0.850000	0.33497	0.123000	0.20343	6.857000	0.75455	2.356000	0.79943	0.491000	0.48974	TGG	SYTL3	-	superfamily_C2_dom	ENSG00000164674		0.532	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	-	0	42	0	G			159178395	1	tier1	-	no_errors	ENST00000297239	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	159178395	G	T	159178395	3	4	15	1	0	0	0	0	1	0	0	0	15531	1212	42	3	1120	3	SYTL3	6	159178395	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	49323847	159178395	11936672	47	4543											
IQCE	23288	genome.wustl.edu	37	chr7	2638117	2638117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcccaagagctcccagctCccactcccagcagcaggcac	10	3	9	19	0	0	1	0	0	0	1	3	1	3	1	4	2	4	5	4	2	1	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr7:2638117C>T	ENST00000402050.2	+	17	1643	c.1459C>T	c.(1459-1461)Ccc>Tcc	p.P487S	IQCE_ENST00000438376.2_Missense_Mutation_p.P471S|IQCE_ENST00000325979.7_Missense_Mutation_p.P422S|IQCE_ENST00000404984.1_Missense_Mutation_p.P436S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	487						mitochondrion (GO:0005739)		p.P487S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCTCCCAGCTCCCACTCCCAG	0.627																																																	1	Substitution - Missense(1)	breast(1)											90	104	99					7																	2638117		2000	4146	6146	SO:0001583	missense	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1459C>T	7.37:g.2638117C>T	ENSP00000385597:p.Pro487Ser		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.P487S	ENST00000402050.2	37	c.1459	CCDS43542.1	7	.	.	.	.	.	.	.	.	.	.	C	8.434	0.849384	0.17034	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	T;T;T;T;T	0.26957	2.85;2.84;2.85;2.85;1.7	4.93	-2.89	0.05665	.	1.902400	0.02435	N	0.083982	T	0.15955	0.0384	N	0.21583	0.68	0.09310	N	1	B;B;B;B;B;B	0.23442	0.017;0.017;0.018;0.085;0.017;0.037	B;B;B;B;B;B	0.18561	0.009;0.009;0.007;0.015;0.006;0.022	T	0.22452	-1.0216	10	0.10111	T	0.7	-2.9415	9.3497	0.38131	0.0:0.7407:0.131:0.1284	.	422;471;422;487;487;471	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	S	487;436;471;422;67	ENSP00000385597:P487S;ENSP00000385945:P436S;ENSP00000396178:P471S;ENSP00000313772:P422S;ENSP00000405982:P67S	ENSP00000313772:P422S	P	+	1	0	IQCE	2604643	0.000000	0.05858	0.000000	0.03702	0.223000	0.24884	-1.580000	0.02121	-1.133000	0.02903	-0.345000	0.07892	CCC	IQCE	-	NULL	ENSG00000106012		0.627	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0	61	0	C	NM_152558		2638117	1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	missense	39.18	59	38	SNP	0.000	T	T	2638117	C	T	2638117	3	4	15	1	0	0	0	0	1	0	0	0	7833	855	30	3	1525	3	IQCE	7	2638117	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		2638117	156500546	48	4544											
CDK13	8621	genome.wustl.edu	37	chr7	40027387	40027387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaggcagcaagagcCgcagaagcagcgaaagctgc	14	1	15	11	2	0	3	0	0	0	3	0	4	0	3	1	1	7	7	1	1	3	0	rs137937704		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr7:40027387C>T	ENST00000181839.4	+	2	2006	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	CDK13_ENST00000340829.5_Silent_p.A467A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	467					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						cagcaagagccgcagaagcag	0.498																																																	0								C	,	0,4406		0,0,2203	35	36	36		1401,1401	2.4	1	7	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDK13	NM_003718.4,NM_031267.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	467/1513,467/1453	40027387	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1401C>T	7.37:g.40027387C>T			Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A467	ENST00000181839.4	37	c.1401	CCDS5461.1	7																																																																																			CDK13	-	NULL	ENSG00000065883		0.498	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	-	0	29	0	C	NM_003718		40027387	1	tier1	rs137937704	no_errors	ENST00000181839	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.995	T	T	40027387	C	T	40027387	2	4	15	1	0	0	0	0	0	0	0	1	3136	639	23	1		1	CDK13	7	40027387	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	37389270	40027387	119111276	49	4545											
GLI3	2737	genome.wustl.edu	37	chr7	42005959	42005959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctggcttcgctggagcgGcgcgaggcgtcggtggagat	4	8	20	9	6	0	1	0	0	0	1	2	4	0	2	0	7	1	3	0	7	0	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr7:42005959G>A	ENST00000395925.3	-	15	2796	c.2712C>T	c.(2710-2712)cgC>cgT	p.R904R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	904					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCTGGAGCGGCGCGAGGCGT	0.721									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													21	25	24					7																	42005959		2200	4289	6489	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2712C>T	7.37:g.42005959G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R904	ENST00000395925.3	37	c.2712	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.721	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	36	0	G	NM_000168		42005959	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	silent	38.78	30	19	SNP	1.000	A	A	42005959	G	A	42005959	2	1	15	1	0	0	0	0	0	0	0	1	6465	1190	42	3		3	GLI3	7	42005959	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	1978572	42005959	117132704	50	4546											
NOBOX	135935	genome.wustl.edu	37	chr7	144096926	144096926	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtttctccatttttcGccacttggcccggcgattct	5	16	7	13	3	3	0	1	0	2	0	5	1	3	0	3	2	0	1	3	2	0	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr7:144096926G>A	ENST00000467773.1	-	6	1077	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	NOBOX_ENST00000483238.1_Nonsense_Mutation_p.R328*|NOBOX_ENST00000223140.5_Nonsense_Mutation_p.R243*	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	360			R -> Q. {ECO:0000269|PubMed:17701902}.		oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TCCATTTTTCGCCACTTGGCC	0.532																																																	0													90	94	93					7																	144096926		1959	4155	6114	SO:0001587	stop_gained	0					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"Homeoboxes / PRD class"	22448	protein-coding gene	gene with protein product	"newborn ovary homeobox-encoding gene"	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1078C>T	7.37:g.144096926G>A	ENSP00000419457:p.Arg360*		A6NCD3|A8MZN5	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R360*	ENST00000467773.1	37	c.1078		7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883019	0.91740	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	.	.	.	5.55	-3.12	0.05282	.	0.319059	0.26832	N	0.022267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9644	12.9878	0.58602	0.0:0.0995:0.2518:0.6487	.	.	.	.	X	328;360;243;117	.	ENSP00000223140:R243X	R	-	1	2	NOBOX	143727859	0.994000	0.37717	0.514000	0.27761	0.826000	0.46750	0.286000	0.18902	-1.083000	0.03097	-0.284000	0.09977	CGA	NOBOX	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000106410		0.532	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	HGNC	protein_coding	OTTHUMT00000350095.1	-	0	48	0	G	XM_001134420		144096926	-1	tier1	-	no_errors	ENST00000467773	ensembl	human	known	74_37	nonsense	36.84	36	21	SNP	0.978	A	A	144096926	G	A	144096926	4	1	15	1	0	0	0	0	0	1	0	0	10551	1095	38	1	1017	1	NOBOX	7	144096926	Nonsense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	102090967	144096926	15041737	51	4547											
LRRC61	65999	genome.wustl.edu	37	chr7	150034279	150034279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgcaggcaacctactggCcaccccgggccagctgcagt	7	5	12	17	2	0	0	0	0	0	0	0	0	0	0	6	3	5	4	6	3	2	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr7:150034279C>A	ENST00000359623.4	+	3	917	c.329C>A	c.(328-330)gCc>gAc	p.A110D	LRRC61_ENST00000493307.1_Missense_Mutation_p.A110D|LRRC61_ENST00000323078.7_Missense_Mutation_p.A110D	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	110										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AACCTACTGGCCACCCCGGGC	0.637																																																	0													28	30	29					7																	150034279		2203	4300	6503	SO:0001583	missense	0			BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.329C>A	7.37:g.150034279C>A	ENSP00000352642:p.Ala110Asp		B3KUW0|D3DWY8	Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.A110D	ENST00000359623.4	37	c.329	CCDS5901.1	7	.	.	.	.	.	.	.	.	.	.	C	7.054	0.564997	0.13498	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.23552	1.9;1.9;1.9	4.66	2.82	0.32997	.	0.297068	0.32719	N	0.005734	T	0.15652	0.0377	L	0.39514	1.22	0.24394	N	0.99473	B	0.06786	0.001	B	0.04013	0.001	T	0.25950	-1.0117	10	0.17369	T	0.5	-7.7128	3.6929	0.08353	0.1695:0.5734:0.1644:0.0926	.	110	Q9BV99	LRC61_HUMAN	D	110	ENSP00000339047:A110D;ENSP00000352642:A110D;ENSP00000420560:A110D	ENSP00000339047:A110D	A	+	2	0	LRRC61	149665212	0.009000	0.17119	0.359000	0.25824	0.181000	0.23173	0.976000	0.29462	0.393000	0.25203	0.485000	0.47835	GCC	LRRC61	-	NULL	ENSG00000127399		0.637	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC61	HGNC	protein_coding	OTTHUMT00000350696.1	-	0	43	0	C	NM_023942		150034279	1	tier1	-	no_errors	ENST00000323078	ensembl	human	known	74_37	missense	31.48	37	17	SNP	0.589	A	A	150034279	C	A	150034279	3	1	15	1	0	0	0	0	1	0	0	0	9052	739	26	3	331	3	LRRC61	7	150034279	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	5937353	150034279	9104384	52	4548											
DPP6	1804	genome.wustl.edu	37	chr7	154681223	154681223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaactaattaggggaaagGctaattacagcttacaggta	16	9	9	7	0	0	0	0	0	0	0	0	1	0	1	0	4	4	3	0	4	8	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr7:154681223G>A	ENST00000377770.3	+	25	2575	c.2434G>A	c.(2434-2436)Gct>Act	p.A812T	DPP6_ENST00000427557.1_Missense_Mutation_p.A705T|DPP6_ENST00000404039.1_Missense_Mutation_p.A748T|DPP6_ENST00000332007.3_Missense_Mutation_p.A750T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	812					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TAGGGGAAAGGCTAATTACAG	0.388																																					NSCLC(125;1384 1783 2490 7422 34254)												0													90	83	85					7																	154681223		1912	4132	6044	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2434G>A	7.37:g.154681223G>A	ENSP00000367001:p.Ala812Thr			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.A812T	ENST00000377770.3	37	c.2434		7	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654541	0.29425	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	4.95	3.11	0.35812	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.161766	0.53938	N	0.000044	T	0.45377	0.1339	L	0.29908	0.895	0.53005	D	0.999964	P;P;D;P	0.60160	0.736;0.928;0.987;0.942	B;B;P;P	0.61477	0.445;0.397;0.889;0.677	T	0.32428	-0.9907	10	0.54805	T	0.06	-7.5027	9.5996	0.39596	0.0739:0.0:0.7753:0.1508	.	705;750;812;748	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	748;812;750;705	ENSP00000385578:A748T;ENSP00000367001:A812T;ENSP00000328226:A750T;ENSP00000397303:A705T	ENSP00000328226:A750T	A	+	1	0	DPP6	154312156	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	4.822000	0.62686	0.469000	0.27268	-1.131000	0.01979	GCT	DPP6	-	pfam_Peptidase_S9	ENSG00000130226		0.388	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0	29	0	G	NM_130797		154681223	1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	154681223	G	A	154681223	3	1	15	1	0	0	0	0	1	0	0	0	4744	1203	42	3	2648	3	DPP6	7	154681223	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	4646944	154681223	4457440	53	4549											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1853763	1853763	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtggaagccgatacctCattcgatcagatgatatgat	13	10	10	8	2	2	3	2	2	0	1	3	6	2	4	2	1	3	1	2	1	3	3	rs146717173	byFrequency	TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:1853763C>T	ENST00000398564.1	+	17	1923	c.1923C>T	c.(1921-1923)ctC>ctT	p.L641L	ARHGEF10_ENST00000520359.1_Silent_p.L578L|ARHGEF10_ENST00000518288.1_Silent_p.L640L|ARHGEF10_ENST00000349830.3_Silent_p.L616L|ARHGEF10_ENST00000262112.6_Silent_p.L641L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	641					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCCGATACCTCATTCGATCAG	0.423																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	196	190	192		1848	3.4	0.8	8	dbSNP_134	192	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGEF10	NM_014629.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		616/1345	1853763	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1923C>T	8.37:g.1853763C>T			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.L641	ENST00000398564.1	37	c.1923		8																																																																																			ARHGEF10	-	NULL	ENSG00000104728		0.423	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		-	0	59	0	C			1853763	1	tier1	rs146717173	no_errors	ENST00000398564	ensembl	human	known	74_37	silent	14.73	110	19	SNP	0.976	T	T	1853763	C	T	1853763	2	4	15	1	0	0	0	0	0	0	0	1	894	813	29	3		3	ARHGEF10	8	1853763	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		1853763	144510259	54	4550											
KIAA1967	57805	genome.wustl.edu	37	chr8	22473699	22473699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagccatcaaagaggaggtgGtcaaggagcccaaggatgag	15	4	15	7	0	2	2	2	1	0	1	2	5	2	5	2	5	2	0	2	5	4	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:22473699G>T	ENST00000308511.4	+	14	2032	c.1783G>T	c.(1783-1785)Gtc>Ttc	p.V595F	CCAR2_ENST00000389279.3_Missense_Mutation_p.V595F|CCAR2_ENST00000520861.1_Missense_Mutation_p.V270F|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	595					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AGAGGAGGTGGTCAAGGAGCC	0.592																																																	0													95	95	95					8																	22473699		2203	4300	6503	SO:0001583	missense	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1783G>T	8.37:g.22473699G>T	ENSP00000310670:p.Val595Phe		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.V595F	ENST00000308511.4	37	c.1783	CCDS34863.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.89|13.89	2.370931|2.370931	0.42003|0.42003	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	T;T;T|.	0.30182|.	1.54;1.54;1.54|.	5.54|5.54	2.74|2.74	0.32292|0.32292	.|.	0.609950|.	0.16459|.	N|.	0.213513|.	T|T	0.21962|0.21962	0.0529|0.0529	N|N	0.08118|0.08118	0|0	0.32284|0.32284	N|N	0.567201|0.567201	B;B|.	0.27117|.	0.168;0.031|.	B;B|.	0.30495|.	0.116;0.017|.	T|T	0.29640|0.29640	-1.0005|-1.0005	10|5	0.56958|.	D|.	0.05|.	-2.3646|-2.3646	7.7794|7.7794	0.29056|0.29056	0.0766:0.0:0.6345:0.2889|0.0766:0.0:0.6345:0.2889	.|.	270;595|.	G3V119;Q8N163|.	.;K1967_HUMAN|.	F|C	595;595;270|286	ENSP00000310670:V595F;ENSP00000373930:V595F;ENSP00000429773:V270F|.	ENSP00000310670:V595F|.	V|W	+|+	1|3	0|0	KIAA1967|KIAA1967	22529644|22529644	0.403000|0.403000	0.25319|0.25319	0.895000|0.895000	0.35142|0.35142	0.854000|0.854000	0.48673|0.48673	1.268000|1.268000	0.33062|0.33062	0.428000|0.428000	0.26173|0.26173	0.655000|0.655000	0.94253|0.94253	GTC|TGG	CCAR2	-	NULL	ENSG00000158941		0.592	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR2	HGNC	protein_coding	OTTHUMT00000375865.1		0	24	0	G	NM_021174		22473699	1			no_errors	ENST00000308511	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.988	T	T	22473699	G	T	22473699	3	4	15	1	0	0	0	0	1	0	0	0	8292	1261	44	3	1833	3	KIAA1967	8	22473699	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	20619936	22473699	123890323	55	4551											
SNAI2	6591	genome.wustl.edu	37	chr8	49832626	49832626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agattttctagactgggcatCgcagtgcagctgcttatgtt	8	14	11	8	1	1	2	0	0	1	2	2	2	1	2	0	1	3	6	0	1	2	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:49832626C>T	ENST00000396822.1	-	3	811	c.454G>A	c.(454-456)Gat>Aat	p.D152N	SNAI2_ENST00000020945.1_Missense_Mutation_p.D152N			O43623	SNAI2_HUMAN	snail family zinc finger 2	152					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GACTGGGCATCGCAGTGCAGC	0.453																																																	0													87	86	87					8																	49832626		2203	4300	6503	SO:0001583	missense	0			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.454G>A	8.37:g.49832626C>T	ENSP00000380034:p.Asp152Asn		B2R6P6|Q53FC1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D152N	ENST00000396822.1	37	c.454	CCDS6146.1	8	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834059	0.91036	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.29397	1.57;1.57	5.38	5.38	0.77491	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	L	0.29908	0.895	0.80722	D	1	P	0.38677	0.642	B	0.30105	0.111	T	0.03423	-1.1038	10	0.42905	T	0.14	-15.9243	19.1193	0.93355	0.0:1.0:0.0:0.0	.	152	O43623	SNAI2_HUMAN	N	152	ENSP00000020945:D152N;ENSP00000380034:D152N	ENSP00000020945:D152N	D	-	1	0	SNAI2	49995179	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	7.487000	0.81328	2.516000	0.84829	0.561000	0.74099	GAT	SNAI2	-	pfscan_Znf_C2H2	ENSG00000019549		0.453	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI2	HGNC	protein_coding	OTTHUMT00000313873.2	-	0	50	0	C	NM_003068		49832626	-1	tier1	-	no_errors	ENST00000020945	ensembl	human	known	74_37	missense	15.69	86	16	SNP	1.000	T	T	49832626	C	T	49832626	3	4	15	1	0	0	0	0	1	0	0	0	14872	884	31	1	360	1	SNAI2	8	49832626	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	27358927	49832626	96531396	56	4552											
OTUD6B	51633	genome.wustl.edu	37	chr8	92097035	92097035	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgagacatgcatatggctTaggagaacattataattcgg	14	12	10	5	1	0	2	0	1	0	2	1	4	0	2	0	3	2	2	0	3	6	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:92097035T>G	ENST00000285420.4	+	7	1010	c.911T>G	c.(910-912)tTa>tGa	p.L304*	OTUD6B_ENST00000404789.3_Nonsense_Mutation_p.L173*	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	274							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GCATATGGCTTAGGAGAACAT	0.254																																																	0													76	72	73					8																	92097035		2203	4297	6500	SO:0001587	stop_gained	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.911T>G	8.37:g.92097035T>G	ENSP00000285420:p.Leu304*		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Nonsense_Mutation	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.L304*	ENST00000285420.4	37	c.911	CCDS6253.2	8	.	.	.	.	.	.	.	.	.	.	T	40	8.043776	0.98624	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	.	.	.	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0595	16.143	0.81539	0.0:0.0:0.0:1.0	.	.	.	.	X	304;173	.	ENSP00000285420:L304X	L	+	2	0	OTUD6B	92166211	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.842000	0.75379	2.289000	0.77006	0.482000	0.46254	TTA	OTUD6B	-	pfam_OTU,pfscan_OTU	ENSG00000155100		0.254	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1		0	13	0	T	NM_016023		92097035	1			no_errors	ENST00000285420	ensembl	human	known	74_37	nonsense	12.00	22	3	SNP	1.000	G	G	92097035	T	G	92097035	4	3	15	1	0	0	0	0	0	1	0	0	11356	1764	61	4	937	4	OTUD6B	8	92097035	Nonsense_Mutation	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	42264409	92097035	54266987	57	4553											
ZFPM2	23414	genome.wustl.edu	37	chr8	106815021	106815021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaagcgaacgaaacaGccctgatgtcagctacgaaa	16	5	9	11	3	1	2	1	1	0	1	2	5	2	2	2	0	6	1	2	0	5	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:106815021G>T	ENST00000407775.2	+	8	2961	c.2711G>T	c.(2710-2712)aGc>aTc	p.S904I	RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S635I|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S772I|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S772I|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	904					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S904N(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAACGAAACAGCCCTGATGTC	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											44	43	44					8																	106815021		1914	4132	6046	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2711G>T	8.37:g.106815021G>T	ENSP00000384179:p.Ser904Ile		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S904I	ENST00000407775.2	37	c.2711	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628599	0.46944	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.22134	1.97;2.41;2.41;3.62	5.57	5.57	0.84162	.	0.080268	0.85682	D	0.000000	T	0.30039	0.0752	N	0.24115	0.695	0.53005	D	0.999961	D	0.67145	0.996	P	0.57548	0.823	T	0.01899	-1.1251	10	0.44086	T	0.13	.	19.5601	0.95368	0.0:0.0:1.0:0.0	.	904	Q8WW38	FOG2_HUMAN	I	904;772;772;635	ENSP00000384179:S904I;ENSP00000430757:S772I;ENSP00000428720:S772I;ENSP00000367733:S635I	ENSP00000367733:S635I	S	+	2	0	ZFPM2	106884197	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.806000	0.55583	2.620000	0.88729	0.650000	0.86243	AGC	ZFPM2	-	NULL	ENSG00000169946		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1		0	14	0	G			106815021	1			no_errors	ENST00000407775	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	106815021	G	T	106815021	3	4	15	1	0	0	0	0	1	0	0	0	17706	971	34	3	2741	3	ZFPM2	8	106815021	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	14717986	106815021	39549001	58	4554											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110417360	110417360	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctataatatggaaaaaactgGtaagttataaataataaggg	20	11	8	2	0	0	0	0	0	0	0	0	1	0	1	0	3	1	2	0	3	12	8			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:110417360G>C	ENST00000378402.5	+	16	1773		c.e16+1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAAAAAACTGGTAAGTTATAA	0.308										HNSCC(38;0.096)																																							0													18	18	18					8																	110417360		1772	4042	5814	SO:0001630	splice_region_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1669+1G>C	8.37:g.110417360G>C			Q567P2|Q9UF27	Splice_Site	SNP	-	e16+1	ENST00000378402.5	37	c.1669+1	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574248	0.65878	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2279	0.86975	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110486536	1.000000	0.71417	0.999000	0.59377	0.726000	0.41606	5.648000	0.67930	2.672000	0.90937	0.650000	0.86243	.	PKHD1L1	-	-	ENSG00000205038		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	30	0	G	NM_177531	Intron	110417360	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	splice_site	27.42	45	17	SNP	1.000	C	C	110417360	G	C	110417360	5	2	15	1	0	0	0	0	0	0	1	0	12011	1275	44	5	1732	5	PKHD1L1	8	110417360	Splice_Site	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	3602339	110417360	35946662	59	4555											
SYBU	55638	genome.wustl.edu	37	chr8	110587571	110587571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagactcatcaggggacGccaagctcgagggacagggg	10	5	16	10	2	3	1	3	0	0	1	4	4	3	3	1	5	1	2	1	5	1	1	rs372495769		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:110587571G>A	ENST00000422135.1	-	8	2071	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	SYBU_ENST00000528647.1_Missense_Mutation_p.A518V|SYBU_ENST00000528331.1_Missense_Mutation_p.A400V|SYBU_ENST00000419099.1_Missense_Mutation_p.A518V|SYBU_ENST00000533895.1_Missense_Mutation_p.A518V|SYBU_ENST00000424158.2_Missense_Mutation_p.A524V|SYBU_ENST00000433638.1_Missense_Mutation_p.A519V|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000408908.2_Missense_Mutation_p.A519V|SYBU_ENST00000529175.1_Missense_Mutation_p.A313V|SYBU_ENST00000533171.1_Missense_Mutation_p.A519V|SYBU_ENST00000529690.1_Missense_Mutation_p.A389V|SYBU_ENST00000446070.2_Missense_Mutation_p.A518V|SYBU_ENST00000408889.3_Missense_Mutation_p.A400V|SYBU_ENST00000532779.1_Missense_Mutation_p.A451V|SYBU_ENST00000399066.3_Missense_Mutation_p.A516V|SYBU_ENST00000533065.1_Missense_Mutation_p.A400V|SYBU_ENST00000276646.9_Missense_Mutation_p.A519V|SYBU_ENST00000440310.1_Missense_Mutation_p.A519V	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	519					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATCAGGGGACGCCAAGCTCGA	0.562																																																	0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	2,3974		0,2,1986	53	57	56		1553,1556,1556,1199,1553,1556,1199,1556,1553,1556,1553,1556,1199,1547,1553	2	0	8		56	0,8344		0,0,4172	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	SYBU	NM_001099743.1,NM_001099744.1,NM_001099745.1,NM_001099746.1,NM_001099747.1,NM_001099748.1,NM_001099749.1,NM_001099750.1,NM_001099751.1,NM_001099752.1,NM_001099753.1,NM_001099754.1,NM_001099755.1,NM_001099756.1,NM_017786.5	64,64,64,64,64,64,64,64,64,64,64,64,64,64,64	0,2,6158	AA,AG,GG		0.0,0.0503,0.0162	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	518/663,519/664,519/664,400/545,518/663,519/664,400/545,519/664,518/663,519/664,518/663,519/664,400/545,516/661,518/663	110587571	2,12318	1988	4172	6160	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1556C>T	8.37:g.110587571G>A	ENSP00000407118:p.Ala519Val		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.A519V	ENST00000422135.1	37	c.1556	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	1.811	-0.474733	0.04414	5.03E-4	0.0	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.84	1.95	0.26073	.	0.858234	0.10668	N	0.647902	T	0.25344	0.0616	L	0.48642	1.525	0.09310	N	1	P;P;P;P;P	0.36378	0.55;0.55;0.55;0.55;0.55	B;B;B;B;B	0.28465	0.09;0.09;0.062;0.09;0.057	T	0.11916	-1.0568	9	0.36615	T	0.2	-0.0395	5.6208	0.17455	0.1452:0.0:0.5772:0.2776	.	389;451;518;519;516	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	V	518;524;451;516;518;400;313;519;518;519;518;519;519;519;400;400;389;519	.	ENSP00000276646:A519V	A	-	2	0	SYBU	110656747	0.154000	0.22792	0.000000	0.03702	0.006000	0.05464	2.071000	0.41500	0.076000	0.16826	0.655000	0.94253	GCG	SYBU	-	NULL	ENSG00000147642		0.562	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	-	0	28	0	G	NM_017786		110587571	-1	tier1	-	no_errors	ENST00000276646	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	A	A	110587571	G	A	110587571	3	1	15	1	0	0	0	0	1	0	0	0	15474	1087	38	1	439	1	SYBU	8	110587571	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	170211	110587571	35776451	60	4556											
ZC3H3	23144	genome.wustl.edu	37	chr8	144522386	144522386	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggaagcgggaggggaTgaggaggaggaggaggagga	13	2	23	3	1	0	1	0	1	0	0	1	10	1	10	1	10	1	0	1	10	2	0	rs35759992		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr8:144522386T>G	ENST00000262577.5	-	11	2671	c.2640A>C	c.(2638-2640)tcA>tcC	p.S880S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	880	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGggaggggatgaggaggagg	0.647																																																	0													30	29	30					8																	144522386		2202	4299	6501	SO:0001819	synonymous_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2640A>C	8.37:g.144522386T>G			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S880	ENST00000262577.5	37	c.2640	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.647	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2		0	37	0	T	NM_015117		144522386	-1			no_errors	ENST00000262577	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.000	G	G	144522386	T	G	144522386	2	3	15	1	0	0	0	0	0	0	0	1	17617	1451	51	4		4	ZC3H3	8	144522386	Silent	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	33934815	144522386	1841636	61	4557											
KDM4C	23081	genome.wustl.edu	37	chr9	6793029	6793029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcctctgaaccccagctGtaagataatgaccttcagac	13	9	7	12	0	2	4	1	2	1	2	3	4	3	4	4	0	2	2	4	0	4	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr9:6793029G>T	ENST00000381309.3	+	2	606	c.41G>T	c.(40-42)tGt>tTt	p.C14F	KDM4C_ENST00000401787.3_Missense_Mutation_p.C14F|KDM4C_ENST00000535193.1_Missense_Mutation_p.C36F|KDM4C_ENST00000381306.3_Missense_Mutation_p.C14F|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000442236.2_5'UTR|KDM4C_ENST00000543771.1_Missense_Mutation_p.C14F	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	14					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AACCCCAGCTGTAAGATAATG	0.493																																																	0													146	153	151					9																	6793029		2203	4300	6503	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.41G>T	9.37:g.6793029G>T	ENSP00000370710:p.Cys14Phe		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.C14F	ENST00000381309.3	37	c.41	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264705	0.80358	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	T;T;T;T;T	0.20069	2.12;2.1;2.22;2.28;2.18	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.69823	2.125	0.80722	D	1	D;D;B;P;P;P	0.76494	0.999;0.999;0.069;0.902;0.7;0.801	D;D;B;P;B;P	0.77004	0.989;0.952;0.019;0.653;0.36;0.563	T	0.45920	-0.9228	10	0.72032	D	0.01	-7.8889	18.3414	0.90307	0.0:0.0:1.0:0.0	.	14;14;14;36;14;14	F5H347;B4E1Y4;B0QZ60;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	F	36;14;14;14;14	ENSP00000442382:C36F;ENSP00000445427:C14F;ENSP00000383990:C14F;ENSP00000370710:C14F;ENSP00000370707:C14F	ENSP00000370707:C14F	C	+	2	0	KDM4C	6783029	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.785000	0.91822	2.597000	0.87782	0.655000	0.94253	TGT	KDM4C	-	NULL	ENSG00000107077		0.493	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	-	0	32	0	G	NM_015061		6793029	1	tier1	-	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	6793029	G	T	6793029	3	4	15	1	0	0	0	0	1	0	0	0	8157	1377	48	3	113	3	KDM4C	9	6793029	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		6793029	134420402	62	4558											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18775842	18775842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaattccaccctgtgcccGcccctgcctttctcttcctc	3	13	5	20	1	2	0	1	0	1	0	6	0	4	0	7	0	2	0	7	0	1	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr9:18775842G>A	ENST00000380548.4	+	18	2838	c.2499G>A	c.(2497-2499)ccG>ccA	p.P833P		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	833	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCTGTGCCCGCCCCTGCCTT	0.567																																																	0													38	44	42					9																	18775842		1956	4138	6094	SO:0001819	synonymous_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2499G>A	9.37:g.18775842G>A			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P833	ENST00000380548.4	37	c.2499	CCDS47954.1	9																																																																																			ADAMTSL1	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.567	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	51	0	G			18775842	1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	silent	27.27	39	15	SNP	0.013	A	A	18775842	G	A	18775842	2	1	15	1	0	0	0	0	0	0	0	1	274	1074	38	1		1	ADAMTSL1	9	18775842	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	11982813	18775842	122437589	63	4559											
GABBR2	9568	genome.wustl.edu	37	chr9	101340276	101340276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgacggatggacagaCgcctccaaacaccatcaagt	13	6	11	11	2	1	2	1	1	0	1	2	5	2	5	3	3	1	0	3	3	2	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr9:101340276C>T	ENST00000259455.2	-	2	859	c.400G>A	c.(400-402)Gtc>Atc	p.V134I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	134					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GATGGACAGACGCCTCCAAAC	0.498																																																	0													214	198	203					9																	101340276		2203	4300	6503	SO:0001583	missense	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.400G>A	9.37:g.101340276C>T	ENSP00000259455:p.Val134Ile		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.V134I	ENST00000259455.2	37	c.400	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	c	27.3	4.821819	0.90873	.	.	ENSG00000136928	ENST00000259455	D	0.83673	-1.75	4.59	4.59	0.56863	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000003	D	0.86104	0.5853	L	0.36672	1.1	0.43688	D	0.996139	D	0.76494	0.999	D	0.74674	0.984	D	0.85714	0.1321	10	0.39692	T	0.17	.	14.9707	0.71232	0.0:1.0:0.0:0.0	.	134	O75899	GABR2_HUMAN	I	134	ENSP00000259455:V134I	ENSP00000259455:V134I	V	-	1	0	GABBR2	100380097	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.724000	0.84798	2.113000	0.64589	0.550000	0.68814	GTC	GABBR2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000136928		0.498	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	-	0	47	0	C			101340276	-1	tier1	-	no_errors	ENST00000259455	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	T	T	101340276	C	T	101340276	3	4	15	1	0	0	0	0	1	0	0	0	6180	536	19	1	2497	1	GABBR2	9	101340276	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	82564434	101340276	39873155	64	4560											
TNC	3371	genome.wustl.edu	37	chr9	117825355	117825355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcttccacctggtcagcctCctggacctgaatagtaaact	9	11	7	14	0	2	1	1	1	1	0	4	2	4	2	5	2	2	1	5	2	4	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr9:117825355C>T	ENST00000350763.4	-	13	4285	c.3874G>A	c.(3874-3876)Gag>Aag	p.E1292K	TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.E1292K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1292	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGTCAGCCTCCTGGACCTGA	0.552																																																	0													122	84	97					9																	117825355		2203	4300	6503	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3874G>A	9.37:g.117825355C>T	ENSP00000265131:p.Glu1292Lys		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E1292K	ENST00000350763.4	37	c.3874	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523771	0.64747	.	.	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.57595	0.39;0.39	5.4	4.48	0.54585	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.211491	0.50627	D	0.000116	T	0.70020	0.3176	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.70490	-0.4857	10	0.42905	T	0.14	.	9.1831	0.37154	0.1651:0.6754:0.1595:0.0	.	1292;1292	E9PC84;P24821	.;TENA_HUMAN	K	1292	ENSP00000265131:E1292K;ENSP00000411406:E1292K	ENSP00000265131:E1292K	E	-	1	0	TNC	116865176	1.000000	0.71417	0.929000	0.37066	0.937000	0.57800	2.596000	0.46205	1.334000	0.45468	0.655000	0.94253	GAG	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	52	0	C	NM_002160		117825355	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	39.09	67	43	SNP	0.968	T	T	117825355	C	T	117825355	3	4	15	1	0	0	0	0	1	0	0	0	16317	864	30	3	2795	3	TNC	9	117825355	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	16485079	117825355	23388076	65	4561											
ODF2	4957	genome.wustl.edu	37	chr9	131250255	131250255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggagagactacaccGtcagactgctgagtattccg	9	9	12	11	2	1	3	1	1	0	2	2	5	2	4	3	2	2	2	3	2	2	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr9:131250255G>A	ENST00000434106.3	+	14	1850	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	ODF2_ENST00000351030.3_Missense_Mutation_p.R491H|ODF2_ENST00000393527.3_Missense_Mutation_p.R472H|ODF2_ENST00000546203.1_Missense_Mutation_p.R477H|ODF2_ENST00000372814.3_Missense_Mutation_p.R540H|ODF2_ENST00000372791.3_Missense_Mutation_p.R477H|ODF2_ENST00000372807.5_Missense_Mutation_p.R491H|ODF2_ENST00000604420.1_Missense_Mutation_p.R496H|ODF2_ENST00000444119.2_Missense_Mutation_p.R472H|ODF2_ENST00000393533.2_Missense_Mutation_p.R496H|ODF2_ENST00000448249.3_Missense_Mutation_p.R415H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	496					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGACTACACCGTCAGACTGCT	0.557																																																	0													108	94	99					9																	131250255		2203	4300	6503	SO:0001583	missense	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1487G>A	9.37:g.131250255G>A	ENSP00000403453:p.Arg496His		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	NULL	p.R496H	ENST00000434106.3	37	c.1487	CCDS56588.1	9	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512981	0.44660	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;T;T;T;T;T;T;T	0.31247	1.51;1.5;1.95;1.93;1.95;1.52;1.52;1.52	5.7	4.81	0.61882	.	0.329628	0.34750	N	0.003714	T	0.18425	0.0442	N	0.25647	0.755	0.80722	D	1	B;B;B;B;B;B;B;B	0.32717	0.181;0.177;0.072;0.177;0.381;0.181;0.177;0.09	B;B;B;B;B;B;B;B	0.24269	0.025;0.018;0.009;0.018;0.052;0.025;0.018;0.013	T	0.06092	-1.0846	10	0.38643	T	0.18	-16.5362	8.8042	0.34927	0.1691:0.0:0.8309:0.0	.	477;491;415;430;496;477;496;472	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;Q5BJF6-2;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;.;ODFP2_HUMAN;.	H	496;540;491;496;472;415;477;477	ENSP00000377166:R496H;ENSP00000361901:R540H;ENSP00000342581:R491H;ENSP00000361882:R496H;ENSP00000307781:R472H;ENSP00000396687:R415H;ENSP00000437579:R477H;ENSP00000361877:R477H	ENSP00000307781:R472H	R	+	2	0	ODF2	130290076	0.990000	0.36364	0.996000	0.52242	0.931000	0.56810	2.736000	0.47385	1.419000	0.47118	-0.140000	0.14226	CGT	ODF2	-	NULL	ENSG00000136811		0.557	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3	-	0	50	0	G			131250255	1	tier1	-	no_errors	ENST00000434106	ensembl	human	known	74_37	missense	8.82	62	6	SNP	0.955	A	A	131250255	G	A	131250255	3	1	15	1	0	0	0	0	1	0	0	0	10866	1145	40	1	1592	1	ODF2	9	131250255	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	13424900	131250255	9963176	66	4562											
BAT2L1	84726	genome.wustl.edu	37	chr9	134363281	134363281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcctgtcaccgcccaGcaccatgatcctctctgggg	6	7	9	19	1	2	1	1	1	1	0	4	1	3	1	7	2	2	1	7	2	0	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr9:134363281G>T	ENST00000357304.4	+	27	6078	c.6023G>T	c.(6022-6024)aGc>aTc	p.S2008I	SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000458550.1_Missense_Mutation_p.S1314I|PRRC2B_ENST00000405995.1_Missense_Mutation_p.S1314I|PRRC2B_ENST00000372249.1_Missense_Mutation_p.S105I|SNORD62B_ENST00000426867.1_RNA	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2008							poly(A) RNA binding (GO:0044822)	p.S2008N(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TCACCGCCCAGCACCATGATC	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											51	57	55					9																	134363281		2107	4235	6342	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6023G>T	9.37:g.134363281G>T	ENSP00000349856:p.Ser2008Ile		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.S2008I	ENST00000357304.4	37	c.6023	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.66|18.66	3.671615|3.671615	0.67928|0.67928	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000320547|ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	.|T;T;T	.|0.04502	.|3.61;3.94;3.61	4.82|4.82	3.91|3.91	0.45181|0.45181	.|.	.|0.129482	.|0.34110	.|U	.|0.004243	T|T	0.09024|0.09024	0.0223|0.0223	L|L	0.59436|0.59436	1.845|1.845	0.53688|0.53688	D|D	0.999976|0.999976	.|P;P	.|0.44478	.|0.813;0.836	.|P;B	.|0.45856	.|0.495;0.244	T|T	0.02093|0.02093	-1.1215|-1.1215	5|10	.|0.72032	.|D	.|0.01	-28.3942|-28.3942	11.898|11.898	0.52667|0.52667	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	.|1314;2008	.|Q5JSZ5-5;Q5JSZ5	.|.;PRC2B_HUMAN	H|I	14|1314;2008;1314;105	.|ENSP00000384606:S1314I;ENSP00000349856:S2008I;ENSP00000398853:S1314I	.|ENSP00000349856:S2008I	Q|S	+|+	3|2	2|0	PRRC2B|PRRC2B	133353102|133353102	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.826000|1.826000	0.39092|0.39092	2.382000|2.382000	0.81193|0.81193	0.561000|0.561000	0.74099|0.74099	CAG|AGC	PRRC2B	-	NULL	ENSG00000130723		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0	55	0	G			134363281	1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	missense	31.65	54	25	SNP	1.000	T	T	134363281	G	T	134363281	3	4	15	1	0	0	0	0	1	0	0	0	1321	971	34	3	6129	3	BAT2L1	9	134363281	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	3113026	134363281	6850150	67	4563											
CEL	1056	genome.wustl.edu	37	chr9	135945988	135945988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgggctaccggccccAagacaggacagtctctaagg	10	4	11	16	2	1	1	0	0	1	1	2	2	1	2	5	4	1	1	5	4	3	2	rs201074543	byFrequency	TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr9:135945988A>G	ENST00000372080.4	+	10	1452	c.1436A>G	c.(1435-1437)cAa>cGa	p.Q479R	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	476					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TACCGGCCCCAAGACAGGACA	0.607													A|||	4	0.000798722	0	0.0058	5008	,	,		19512	0		0	False		,,,				2504	0																0													83	94	91					9																	135945988		1992	4156	6148	SO:0001583	missense	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1436A>G	9.37:g.135945988A>G	ENSP00000361151:p.Gln479Arg		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.Q479R	ENST00000372080.4	37	c.1436	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253212	0.22965	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.66099	-0.19	5.69	4.52	0.55395	Carboxylesterase, type B (1);	0.353337	0.32785	N	0.005644	T	0.35364	0.0929	N	0.02315	-0.6	0.80722	D	1	B	0.23540	0.087	B	0.20184	0.028	T	0.13710	-1.0499	10	0.35671	T	0.21	.	11.3338	0.49492	0.8638:0.0:0.0:0.1362	.	476	P19835	CEL_HUMAN	R	479;478	ENSP00000361151:Q479R	ENSP00000304021:Q478R	Q	+	2	0	CEL	134935809	0.976000	0.34144	0.074000	0.20217	0.366000	0.29705	4.432000	0.59922	0.945000	0.37605	0.386000	0.25728	CAA	CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0	43	0	A			135945988	1	tier1	rs201074543	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	9.72	65	7	SNP	0.831	G	G	135945988	A	G	135945988	3	3	15	1	0	0	0	0	1	0	0	0	3216	130	5	4	1474	4	CEL	9	135945988	Missense_Mutation	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09	1582707	135945988	5267443	68	4564											
ZMYND11	10771	genome.wustl.edu	37	chr10	287978	287978	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatacctaatcatgagctGgtttgggctaaaatgaaagg	14	10	11	6	0	1	3	1	2	0	1	1	3	1	3	1	3	2	3	1	3	5	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr10:287978G>T	ENST00000397962.3	+	10	1277	c.849G>T	c.(847-849)ctG>ctT	p.L283L	ZMYND11_ENST00000381607.4_Silent_p.L189L|ZMYND11_ENST00000309776.4_Silent_p.L243L|ZMYND11_ENST00000509513.2_Silent_p.L282L|ZMYND11_ENST00000381591.1_Silent_p.L283L|ZMYND11_ENST00000381602.4_Silent_p.L243L|ZMYND11_ENST00000381584.1_Silent_p.L266L|ZMYND11_ENST00000402736.1_Silent_p.L252L|ZMYND11_ENST00000381604.4_Silent_p.L243L|ZMYND11_ENST00000403354.1_Silent_p.L203L|ZMYND11_ENST00000535374.1_Silent_p.L78L|ZMYND11_ENST00000602682.1_Silent_p.L198L|ZMYND11_ENST00000545619.1_Silent_p.L163L|ZMYND11_ENST00000558098.2_Silent_p.L283L|ZMYND11_ENST00000397959.3_Silent_p.L198L			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	283	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCATGAGCTGGTTTGGGCTA	0.363																																																	0													131	128	129					10																	287978		2203	4300	6503	SO:0001819	synonymous_variant	0			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.849G>T	10.37:g.287978G>T			B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.L283	ENST00000397962.3	37	c.849	CCDS7052.2	10																																																																																			ZMYND11	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000015171		0.363	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	-	0	39	0	G	NM_006624		287978	1	tier1	-	no_errors	ENST00000381591	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	287978	G	T	287978	2	4	15	1	0	0	0	0	0	0	0	1	17754	1335	47	3		3	ZMYND11	10	287978	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		287978	135246769	69	4565											
NEBL	10529	genome.wustl.edu	37	chr10	21108359	21108359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaacgacttgccgcactCagctgctcctggtttcgcct	7	10	9	15	3	1	1	1	0	0	1	3	2	2	1	3	1	4	4	3	1	1	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr10:21108359C>T	ENST00000377122.4	-	20	2445	c.2049G>A	c.(2047-2049)ctG>ctA	p.L683L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	683					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGCCGCACTCAGCTGCTCCT	0.423																																																	0													171	162	165					10																	21108359		2203	4300	6503	SO:0001819	synonymous_variant	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2049G>A	10.37:g.21108359C>T			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.L683	ENST00000377122.4	37	c.2049	CCDS7134.1	10																																																																																			NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif	ENSG00000078114		0.423	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	-	0	37	0	C	NM_006393		21108359	-1	tier1	-	no_errors	ENST00000377122	ensembl	human	known	74_37	silent	31.58	26	12	SNP	1.000	T	T	21108359	C	T	21108359	2	4	15	1	0	0	0	0	0	0	0	1	10342	813	29	3		3	NEBL	10	21108359	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	20820381	21108359	114426388	70	4566											
ANK3	288	genome.wustl.edu	37	chr10	61829891	61829891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttggcgttctggctggcGttgtatcaggggttgttgct	3	15	16	7	2	2	0	1	0	1	0	2	0	2	0	0	5	1	8	0	5	1	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr10:61829891G>A	ENST00000280772.2	-	37	10939	c.10748C>T	c.(10747-10749)aCg>aTg	p.T3583M	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3583					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3583M(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGGCTGGCGTTGTATCAGG	0.488																																																	1	Substitution - Missense(1)	pancreas(1)											135	126	129					10																	61829891		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10748C>T	10.37:g.61829891G>A	ENSP00000280772:p.Thr3583Met		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T3583M	ENST00000280772.2	37	c.10748	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666397	0.67814	.	.	ENSG00000151150	ENST00000280772	T	0.17528	2.27	5.77	5.77	0.91146	.	0.000000	0.43416	D	0.000572	T	0.39937	0.1097	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.06320	-1.0833	10	0.87932	D	0	.	19.9837	0.97340	0.0:0.0:1.0:0.0	.	3583	Q12955	ANK3_HUMAN	M	3583	ENSP00000280772:T3583M	ENSP00000280772:T3583M	T	-	2	0	ANK3	61499897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.723000	0.93209	0.655000	0.94253	ACG	ANK3	-	NULL	ENSG00000151150		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	34	0	G	NM_020987		61829891	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	45.90	33	28	SNP	1.000	A	A	61829891	G	A	61829891	3	1	15	1	0	0	0	0	1	0	0	0	622	1145	40	1	2726	1	ANK3	10	61829891	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	40721532	61829891	73704856	71	4567											
DNAJC12	56521	genome.wustl.edu	37	chr10	69571381	69571381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgactctcttcattggtCagaatctcctttgccttctg	5	16	7	13	1	5	1	2	0	3	1	8	2	5	1	2	1	1	1	2	1	1	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr10:69571381C>T	ENST00000225171.2	-	3	350	c.198G>A	c.(196-198)ctG>ctA	p.L66L	DNAJC12_ENST00000339758.7_Silent_p.L66L|DNAJC12_ENST00000483798.2_Silent_p.L96L	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	66	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.									breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						CTTCATTGGTCAGAATCTCCT	0.468																																																	0													123	109	114					10																	69571381		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176012	CCDS7271.1, CCDS7272.1	10q21.3	2011-09-02			ENSG00000108176	ENSG00000108176		"Heat shock proteins / DNAJ (HSP40)"	28908	protein-coding gene	gene with protein product	"J domain protein 1"	606060				10760603	Standard	NM_021800		Approved	JDP1	uc001jnb.3	Q9UKB3	OTTHUMG00000018339	ENST00000225171.2:c.198G>A	10.37:g.69571381C>T			Q5JVQ1|Q9UKB2	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L66	ENST00000225171.2	37	c.198	CCDS7271.1	10																																																																																			DNAJC12	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	ENSG00000108176		0.468	DNAJC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC12	HGNC	protein_coding	OTTHUMT00000048291.1	-	0	38	0	C	NM_021800		69571381	-1	tier1	-	no_errors	ENST00000225171	ensembl	human	known	74_37	silent	48.72	20	19	SNP	1.000	T	T	69571381	C	T	69571381	2	4	15	1	0	0	0	0	0	0	0	1	4645	813	29	3		3	DNAJC12	10	69571381	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	7741490	69571381	65963366	72	4568											
SIRT3	23410	genome.wustl.edu	37	chr11	233167	233167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaaatggcctcggggtaCgggagatcgtactgctggag	10	8	15	8	3	1	1	1	0	0	1	3	3	1	2	1	5	3	3	1	5	4	2	rs148488998		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:233167C>T	ENST00000382743.4	-	3	624	c.522G>A	c.(520-522)ccG>ccA	p.P174P	SIRT3_ENST00000525319.1_Silent_p.P93P|SIRT3_ENST00000532956.1_Silent_p.P174P|SIRT3_ENST00000524564.1_Silent_p.P110P|SIRT3_ENST00000529382.1_Silent_p.P32P|SIRT3_ENST00000528702.1_5'UTR	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	174	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCTCGGGGTACGGGAGATCGT	0.547																																																	0									,	0,4406		0,0,2203	76	79	78		96,522	-10.7	0.1	11	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SIRT3	NM_001017524.2,NM_012239.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	32/258,174/400	233167	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.522G>A	11.37:g.233167C>T			B7Z5U6|Q9Y6E8	Silent	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.P174	ENST00000382743.4	37	c.522	CCDS7691.1	11																																																																																			SIRT3	-	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	ENSG00000142082		0.547	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	-	0	35	0	C			233167	-1	tier1	rs148488998	no_errors	ENST00000382743	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.002	T	T	233167	C	T	233167	2	4	15	1	0	0	0	0	0	0	0	1	14384	523	19	1		1	SIRT3	11	233167	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		233167	134773349	73	4569											
C11orf35	256329	genome.wustl.edu	37	chr11	556252	556252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagcggtacaggcgctccggGaagccgcgcaccagctgctt	8	5	14	14	5	0	0	0	0	0	0	1	1	1	1	3	3	5	5	3	3	3	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:556252G>A	ENST00000329451.3	-	10	1259	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		399	LTD.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCGCTCCGGGAAGCCGCGCA	0.746																																																	0													6	8	7					11																	556252		1624	3033	4657	SO:0001819	synonymous_variant	0																														ENST00000329451.3:c.1197C>T	11.37:g.556252G>A				Silent	SNP	pfam_Lamin_tail_dom	p.F399	ENST00000329451.3	37	c.1197	CCDS7701.1	11																																																																																			C11orf35	-	pfam_Lamin_tail_dom	ENSG00000185522		0.746	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf35	HGNC	protein_coding	OTTHUMT00000254973.2	-	0	12	0	G			556252	-1	tier1	-	no_errors	ENST00000329451	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.913	A	A	556252	G	A	556252	2	1	15	1	0	0	0	0	0	0	0	1	1643	1165	41	3		3	C11orf35	11	556252	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	323085	556252	134450264	74	4570											
MRVI1	10335	genome.wustl.edu	37	chr11	10650303	10650303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgggcctcacctggcGgggtggggactgtaagtgag	6	7	19	9	1	1	1	1	1	0	0	1	2	1	2	2	6	1	3	2	6	1	1	rs373371120		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:10650303G>A	ENST00000436272.1	-	5	698	c.620C>T	c.(619-621)cCg>cTg	p.P207L	MRVI1_ENST00000532037.1_5'Flank|MRVI1_ENST00000423302.2_Missense_Mutation_p.P216L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P207L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P207L|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.P216L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P125L|MRVI1_ENST00000547195.1_Missense_Mutation_p.P125L|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.P125L			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	207					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCACCTGGCGGGGTGGGGAC	0.632																																																	0								G	LEU/PRO,LEU/PRO,,LEU/PRO,,LEU/PRO	0,3996		0,0,1998	38	49	45		620,374,,647,,647	0.4	0	11		45	2,8322		0,2,4160	no	missense,missense,utr-5,missense,utr-5,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	98,98,,98,,98	0,2,6158	AA,AG,GG		0.024,0.0,0.0162	benign,benign,,benign,,benign	207/905,125/822,,216/707,,216/913	10650303	2,12318	1998	4162	6160	SO:0001583	missense	0			AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"inositol 1,4,5-triphosphate-associated cGMP kinase substrate", "IP3R-associated cGMP kinase substrate"	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.620C>T	11.37:g.10650303G>A	ENSP00000412229:p.Pro207Leu		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	pfam_MRVI1	p.P207L	ENST00000436272.1	37	c.620		11	.	.	.	.	.	.	.	.	.	.	G	8.504	0.865021	0.17250	0.0	2.4E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.15017	3.05;3.03;2.47;2.47;2.88;2.46;3.05;2.47	5.7	0.396	0.16309	.	0.640448	0.16295	N	0.220706	T	0.13756	0.0333	L	0.56769	1.78	0.20638	N	0.999877	B;B;B;B	0.13594	0.008;0.004;0.004;0.007	B;B;B;B	0.12156	0.003;0.003;0.003;0.007	T	0.23904	-1.0175	10	0.46703	T	0.11	-0.2006	2.5027	0.04638	0.2102:0.1274:0.5307:0.1317	.	216;207;207;207	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	L	207;208;207;125;125;216;216;207;125	ENSP00000414598:P207L;ENSP00000412229:P207L;ENSP00000448278:P125L;ENSP00000446764:P125L;ENSP00000412130:P216L;ENSP00000437784:P216L;ENSP00000432436:P207L;ENSP00000432067:P125L	ENSP00000307885:P208L	P	-	2	0	MRVI1	10606879	0.013000	0.17824	0.004000	0.12327	0.024000	0.10985	0.648000	0.24828	0.080000	0.16959	-0.140000	0.14226	CCG	MRVI1	-	NULL	ENSG00000072952		0.632	MRVI1-203	KNOWN	basic	protein_coding	MRVI1	HGNC	protein_coding		-	0	30	0	G	NM_001098579		10650303	-1	tier1	-	no_errors	ENST00000421747	ensembl	human	known	74_37	missense	21.28	36	10	SNP	0.016	A	A	10650303	G	A	10650303	3	1	15	1	0	0	0	0	1	0	0	0	9891	1116	39	1	2155	1	MRVI1	11	10650303	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	10094051	10650303	124356213	75	4571											
IGSF22	283284	genome.wustl.edu	37	chr11	18741278	18741278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttacctccacctctactttCttcttcatctctttgagctt	5	19	2	15	0	5	1	1	1	4	0	7	1	6	1	3	0	3	1	3	0	2	7			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:18741278C>G	ENST00000513874.1	-	7	820	c.681G>C	c.(679-681)aaG>aaC	p.K227N	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	227	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCTCTACTTTCTTCTTCATCT	0.522																																																	0													113	115	114					11																	18741278		1915	4125	6040	SO:0001583	missense	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.681G>C	11.37:g.18741278C>G	ENSP00000421191:p.Lys227Asn		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K227N	ENST00000513874.1	37	c.681	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376785	0.42105	.	.	ENSG00000179057	ENST00000513874	T	0.57107	0.42	2.46	2.46	0.29980	.	0.000000	0.40302	N	0.001133	T	0.61640	0.2363	M	0.72479	2.2	0.23855	N	0.996657	D	0.57899	0.981	D	0.69824	0.966	T	0.49643	-0.8918	10	0.20519	T	0.43	.	4.8195	0.13383	0.0:0.7302:0.0:0.2698	.	227	D6RGV7	.	N	227	ENSP00000421191:K227N	ENSP00000322422:K227N	K	-	3	2	IGSF22	18697854	0.981000	0.34729	0.998000	0.56505	0.932000	0.56968	0.084000	0.14891	1.049000	0.40321	0.650000	0.86243	AAG	IGSF22	-	NULL	ENSG00000179057		0.522	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	-	0	56	0	C	NM_173588		18741278	-1	tier1	-	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	44.94	49	40	SNP	1.000	G	G	18741278	C	G	18741278	3	3	15	1	0	0	0	0	1	0	0	0	7627	912	32	5	3367	5	IGSF22	11	18741278	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	8090975	18741278	116265238	76	4572											
PHF21A	51317	genome.wustl.edu	37	chr11	45991391	45991391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagtttggacgtggaGtgagtctaggaggggggata	12	8	19	2	1	1	2	0	1	1	1	1	7	1	6	0	6	0	1	0	6	4	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:45991391G>A	ENST00000418153.2	-	8	873	c.674C>T	c.(673-675)aCt>aTt	p.T225I	PHF21A_ENST00000323180.6_Missense_Mutation_p.T226I|PHF21A_ENST00000257821.4_Missense_Mutation_p.T226I			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	225					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGGACGTGGAGTGAGTCTAGG	0.448																																																	0													103	94	97					11																	45991391		2202	4299	6501	SO:0001583	missense	0			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.674C>T	11.37:g.45991391G>A	ENSP00000398824:p.Thr225Ile		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T226I	ENST00000418153.2	37	c.677	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423867	0.83667	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153	T;T;T	0.48836	0.8;0.8;0.8	5.5	5.5	0.81552	.	0.100286	0.64402	D	0.000002	T	0.55497	0.1924	L	0.51422	1.61	0.49299	D	0.999779	P;P	0.51537	0.928;0.946	P;P	0.51453	0.574;0.67	T	0.49341	-0.8950	10	0.32370	T	0.25	-7.1047	19.3979	0.94614	0.0:0.0:1.0:0.0	.	225;226	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	I	226;226;225	ENSP00000257821:T226I;ENSP00000323152:T226I;ENSP00000398824:T225I	ENSP00000257821:T226I	T	-	2	0	PHF21A	45947967	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.015000	0.70791	2.595000	0.87683	0.655000	0.94253	ACT	PHF21A	-	NULL	ENSG00000135365		0.448	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	-	0	59	0	G	NM_016621		45991391	-1	tier1	-	no_errors	ENST00000257821	ensembl	human	known	74_37	missense	20.72	88	23	SNP	1.000	A	A	45991391	G	A	45991391	3	1	15	1	0	0	0	0	1	0	0	0	11872	1029	36	3	1439	3	PHF21A	11	45991391	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	27250113	45991391	89015125	77	4573											
OR5L2	26338	genome.wustl.edu	37	chr11	55595411	55595411	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcacaaagctttctcCacctgtgcctcccacctcac	9	8	6	18	0	2	0	1	0	1	0	4	0	3	0	5	1	3	3	5	1	1	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:55595411C>A	ENST00000378397.1	+	1	717	c.717C>A	c.(715-717)tcC>tcA	p.S239S		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AAGCTTTCTCCACCTGTGCCT	0.483										HNSCC(27;0.073)																																							0													171	146	154					11																	55595411		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.717C>A	11.37:g.55595411C>A			Q6IF66|Q96RB2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S239	ENST00000378397.1	37	c.717	CCDS31511.1	11																																																																																			OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000205030		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	65	0	C	NM_001004739		55595411	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	silent	17.35	81	17	SNP	0.990	A	A	55595411	C	A	55595411	2	1	15	1	0	0	0	0	0	0	0	1	11210	581	21	3		3	OR5L2	11	55595411	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	9604020	55595411	79411105	78	4574											
OR8J3	81168	genome.wustl.edu	37	chr11	55904509	55904509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccttccttctggtgaaCgtatccttagaatggacaaa	10	15	7	9	1	1	2	0	1	1	1	4	3	4	3	3	2	1	1	3	2	5	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:55904509C>T	ENST00000301529.1	-	1	685	c.686G>A	c.(685-687)cGt>cAt	p.R229H		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTCTGGTGAACGTATCCTTAG	0.368																																																	0													100	94	96					11																	55904509		2201	4296	6497	SO:0001583	missense	0				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"GPCR / Class A : Olfactory receptors"	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.686G>A	11.37:g.55904509C>T	ENSP00000301529:p.Arg229His		Q6IFB6|Q96RC2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R229H	ENST00000301529.1	37	c.686	CCDS31520.1	11	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.083109	0.00371	.	.	ENSG00000167822	ENST00000301529	T	0.39229	1.09	3.27	-6.55	0.01854	GPCR, rhodopsin-like superfamily (1);	0.402874	0.24590	N	0.037233	T	0.14700	0.0355	N	0.10874	0.06	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13176	-1.0519	10	0.19147	T	0.46	.	5.743	0.18104	0.0953:0.5073:0.1477:0.2496	.	229	Q8NGG0	OR8J3_HUMAN	H	229	ENSP00000301529:R229H	ENSP00000301529:R229H	R	-	2	0	OR8J3	55661085	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-5.180000	0.00144	-1.489000	0.01844	-1.892000	0.00534	CGT	OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167822		0.368	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	-	0	33	0	C	NM_001004064		55904509	-1	tier1	-	no_errors	ENST00000301529	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.000	T	T	55904509	C	T	55904509	3	4	15	1	0	0	0	0	1	0	0	0	11281	536	19	1	263	1	OR8J3	11	55904509	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	309098	55904509	79102007	79	4575											
OR5R1	219479	genome.wustl.edu	37	chr11	56185376	56185376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggctagaaggaaacaCtcagtgatcatgaaggtgag	15	7	14	5	0	2	4	2	3	0	1	2	6	2	6	0	4	1	1	0	4	4	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:56185376C>T	ENST00000312253.1	-	1	332	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GAAGGAAACACTCAGTGATCA	0.463																																																	0													105	100	101					11																	56185376		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.333G>A	11.37:g.56185376C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E111	ENST00000312253.1	37	c.333	CCDS31530.1	11																																																																																			OR5R1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174942		0.463	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	-	0	27	0	C	NM_001004744		56185376	-1	tier1	-	no_errors	ENST00000312253	ensembl	human	known	74_37	silent	53.49	20	23	SNP	0.304	T	T	56185376	C	T	56185376	2	4	15	1	0	0	0	0	0	0	0	1	11219	564	20	3		3	OR5R1	11	56185376	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	280867	56185376	78821140	80	4576											
ATL3	25923	genome.wustl.edu	37	chr11	63426708	63426708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcactggaccaggcttgctGctctccatggcatcatctat	7	12	9	13	0	3	0	1	0	2	0	4	1	3	1	2	3	3	5	2	3	1	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:63426708G>T	ENST00000398868.3	-	2	339	c.63C>A	c.(61-63)agC>agA	p.S21R	RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000535789.1_5'UTR|ATL3_ENST00000332645.4_Missense_Mutation_p.S73R|ATL3_ENST00000538786.1_Missense_Mutation_p.S3R	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	21					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.S21S(1)		endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CAGGCTTGCTGCTCTCCATGG	0.388																																																	1	Substitution - coding silent(1)	ovary(1)											72	70	70					11																	63426708		1931	4136	6067	SO:0001583	missense	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.63C>A	11.37:g.63426708G>T	ENSP00000381844:p.Ser21Arg		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.S73R	ENST00000398868.3	37	c.219	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	G	7.204	0.593985	0.13875	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786;ENST00000540699	T;T;T;T	0.80304	-1.24;-1.36;-1.25;0.96	5.82	-2.46	0.06461	.	0.200137	0.42420	D	0.000707	T	0.59770	0.2218	N	0.08118	0	0.09310	N	1	B;B	0.16802	0.019;0.0	B;B	0.12156	0.007;0.0	T	0.52815	-0.8525	10	0.87932	D	0	9.4695	12.0237	0.53358	0.5624:0.0:0.4376:0.0	.	73;21	F5GWF8;Q6DD88	.;ATLA3_HUMAN	R	21;73;3;73	ENSP00000381844:S21R;ENSP00000329034:S73R;ENSP00000437593:S3R;ENSP00000441842:S73R	ENSP00000329034:S73R	S	-	3	2	ATL3	63183284	0.000000	0.05858	0.001000	0.08648	0.992000	0.81027	-1.744000	0.01832	-0.481000	0.06792	0.655000	0.94253	AGC	ATL3	-	superfamily_P-loop_NTPase	ENSG00000184743		0.388	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1		0	35	0	G	NM_015459		63426708	-1			no_errors	ENST00000332645	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	63426708	G	T	63426708	3	4	15	1	0	0	0	0	1	0	0	0	1109	1310	46	3	1610	3	ATL3	11	63426708	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	7241332	63426708	71579808	81	4577											
SPTBN2	6712	genome.wustl.edu	37	chr11	66458832	66458832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcagcgttgaggtcgcGgccagtcccgtccggaagct	5	7	15	14	6	0	1	0	1	0	0	4	2	2	2	3	4	2	3	3	4	1	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:66458832G>A	ENST00000533211.1	-	27	5819	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1830C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1830C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1830					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTGAGGTCGCGGCCAGTCCCG	0.692																																																	0													40	44	42					11																	66458832		2200	4290	6490	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5488C>T	11.37:g.66458832G>A	ENSP00000432568:p.Arg1830Cys		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1830C	ENST00000533211.1	37	c.5488	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495604	0.85069	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.52057	0.68;0.68;0.68	4.76	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.75102	-0.3436	10	0.51188	T	0.08	.	11.2973	0.49286	0.0:0.0:0.6691:0.3309	.	1830	O15020	SPTN2_HUMAN	C	1830	ENSP00000432568:R1830C;ENSP00000311489:R1830C;ENSP00000433593:R1830C	ENSP00000311489:R1830C	R	-	1	0	SPTBN2	66215408	1.000000	0.71417	0.988000	0.46212	0.925000	0.55904	1.608000	0.36847	1.208000	0.43306	0.655000	0.94253	CGC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0	35	0	G	NM_006946		66458832	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	A	A	66458832	G	A	66458832	3	1	15	1	0	0	0	0	1	0	0	0	15167	1116	39	1	1732	1	SPTBN2	11	66458832	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	3032124	66458832	68547684	82	4578											
OMP	4975	genome.wustl.edu	37	chr11	76814312	76814312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggtcatgtacttcctcGtcacctttggcgagggtgtg	6	12	13	10	2	2	0	2	0	0	0	4	1	3	0	2	3	1	2	2	3	2	3	rs376786233		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:76814312G>A	ENST00000529803.1	+	1	427	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	143					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTACTTCCTCGTCACCTTTGG	0.607																																																	0								A	,ILE/VAL	1,4015		0,1,2007	60	65	64		,427	2.9	1	11		64	1,8329		0,1,4164	no	intron,missense	CAPN5,OMP	NM_004055.4,NM_006189.1	,29	0,2,6171	AA,AG,GG		0.012,0.0249,0.0162	,benign	,143/164	76814312	2,12344	2008	4165	6173	SO:0001583	missense	0			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.427G>A	11.37:g.76814312G>A	ENSP00000436376:p.Val143Ile		Q562G2	Missense_Mutation	SNP	pfam_Olfactory_marker,superfamily_Olfactory_marker	p.V143I	ENST00000529803.1	37	c.427	CCDS53682.1	11	.	.	.	.	.	.	.	.	.	.	A	1.616	-0.522777	0.04141	2.49E-4	1.2E-4	ENSG00000254550	ENST00000529803	T	0.25250	1.81	5.29	2.89	0.33648	.	.	.	.	.	T	0.07638	0.0192	N	0.03608	-0.345	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.38845	-0.9642	9	0.02654	T	1	.	1.5336	0.02541	0.4293:0.2897:0.1546:0.1264	.	143	P47874	OMP_HUMAN	I	143	ENSP00000436376:V143I	ENSP00000436376:V143I	V	+	1	0	OMP	76491960	0.990000	0.36364	0.999000	0.59377	0.770000	0.43624	0.576000	0.23744	0.101000	0.17610	-0.521000	0.04368	GTC	OMP	-	pfam_Olfactory_marker,superfamily_Olfactory_marker	ENSG00000254550		0.607	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMP	HGNC	protein_coding	OTTHUMT00000382570.1	-	0	30	0	G	NM_006189		76814312	1	tier1	-	no_errors	ENST00000529803	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.997	A	A	76814312	G	A	76814312	3	1	15	1	0	0	0	0	1	0	0	0	10906	1145	40	1	429	1	OMP	11	76814312	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	10355480	76814312	58192204	83	4579											
NAALAD2	10003	genome.wustl.edu	37	chr11	89882244	89882244	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaatattgtgccaccatAtaatgctttctcagcccaag	13	12	5	11	0	1	0	1	0	1	0	2	0	1	0	3	0	4	1	3	0	6	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:89882244A>T	ENST00000534061.1	+	4	682	c.452A>T	c.(451-453)tAt>tTt	p.Y151F	NAALAD2_ENST00000525171.1_Missense_Mutation_p.Y151F|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y151F|NAALAD2_ENST00000375944.3_Missense_Mutation_p.Y151F	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	151					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGCCACCATATAATGCTTTC	0.348																																																	0													83	85	84					11																	89882244		2197	4287	6484	SO:0001583	missense	0			AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"glutamate carboxypeptidase III"	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.452A>T	11.37:g.89882244A>T	ENSP00000432481:p.Tyr151Phe		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.Y151F	ENST00000534061.1	37	c.452	CCDS8288.1	11	.	.	.	.	.	.	.	.	.	.	A	7.220	0.597231	0.13875	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000006	T	0.31327	0.0793	L	0.33293	1	0.58432	D	0.999998	B;B;B;B;B	0.34061	0.007;0.004;0.003;0.436;0.007	B;B;B;B;B	0.28553	0.016;0.013;0.008;0.091;0.013	T	0.07986	-1.0744	9	.	.	.	-16.7126	15.444	0.75213	1.0:0.0:0.0:0.0	.	151;151;151;151;151	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	F	151;151;151;151;97	ENSP00000432481:Y151F;ENSP00000320083:Y151F;ENSP00000435249:Y151F;ENSP00000365111:Y151F;ENSP00000435670:Y97F	.	Y	+	2	0	NAALAD2	89521892	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.965000	0.63708	2.043000	0.60533	0.451000	0.29950	TAT	NAALAD2	-	NULL	ENSG00000077616		0.348	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALAD2	HGNC	protein_coding	OTTHUMT00000389424.2	-	0	106	0	A	NM_005467		89882244	1	tier1	-	no_errors	ENST00000534061	ensembl	human	known	74_37	missense	34.73	109	58	SNP	1.000	T	T	89882244	A	T	89882244	3	4	15	1	0	0	0	0	1	0	0	0	10166	449	16	5	466	5	NAALAD2	11	89882244	Missense_Mutation	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09	13067932	89882244	45124272	84	4580											
MMP13	4322	genome.wustl.edu	37	chr11	102826188	102826188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcaggattcccgcgAgatttgtaggatggtagtat	8	14	11	8	2	2	1	1	0	1	1	4	4	3	3	2	3	0	3	2	3	3	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:102826188A>T	ENST00000260302.3	-	2	183	c.155T>A	c.(154-156)cTc>cAc	p.L52H	MMP13_ENST00000340273.4_Missense_Mutation_p.L52H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	52					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GATTCCCGCGAGATTTGTAGG	0.463																																																	0													157	152	153					11																	102826188		2202	4299	6501	SO:0001583	missense	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.155T>A	11.37:g.102826188A>T	ENSP00000260302:p.Leu52His		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.L52H	ENST00000260302.3	37	c.155	CCDS8324.1	11	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093532	0.36952	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.38240	1.15;1.15	5.77	2.43	0.29744	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	1.701590	0.02588	N	0.099694	T	0.46852	0.1414	L	0.40543	1.245	0.40322	D	0.978839	D	0.58970	0.984	P	0.55577	0.779	T	0.08229	-1.0732	10	0.49607	T	0.09	.	8.7101	0.34378	0.3138:0.0:0.6862:0.0	.	52	P45452	MMP13_HUMAN	H	52	ENSP00000260302:L52H;ENSP00000339672:L52H	ENSP00000260302:L52H	L	-	2	0	MMP13	102331398	0.913000	0.31002	0.972000	0.41901	0.225000	0.24961	1.480000	0.35464	0.229000	0.21039	0.533000	0.62120	CTC	MMP13	-	pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,pirsf_Pept_M10A_Metazoans	ENSG00000137745		0.463	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1		0	39	0	A	NM_002427		102826188	-1			no_errors	ENST00000340273	ensembl	human	novel	74_37	missense	5.88	48	3	SNP	0.980	T	T	102826188	A	T	102826188	3	4	15	1	0	0	0	0	1	0	0	0	9690	304	11	5	1296	5	MMP13	11	102826188	Missense_Mutation	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09	12943944	102826188	32180328	85	4581											
OR4D5	219875	genome.wustl.edu	37	chr11	123810418	123810418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttttcttcactgttttctCtgctgtgtattttatgactg	4	23	7	7	0	3	1	1	1	2	0	4	1	3	1	0	0	1	4	0	0	2	8			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr11:123810418C>G	ENST00000307033.2	+	1	169	c.95C>G	c.(94-96)tCt>tGt	p.S32C		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACTGTTTTCTCTGCTGTGTAT	0.453																																																	0													114	107	109					11																	123810418		2202	4299	6501	SO:0001583	missense	0			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.95C>G	11.37:g.123810418C>G	ENSP00000305970:p.Ser32Cys		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S32C	ENST00000307033.2	37	c.95	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	C	3.885	-0.025157	0.07589	.	.	ENSG00000171014	ENST00000307033	T	0.00575	6.46	5.28	3.12	0.35913	.	0.549745	0.15365	N	0.266145	T	0.00496	0.0016	L	0.31752	0.955	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.49725	-0.8909	10	0.56958	D	0.05	-2.5159	2.5797	0.04815	0.0:0.4291:0.2941:0.2769	.	32	Q8NGN0	OR4D5_HUMAN	C	32	ENSP00000305970:S32C	ENSP00000305970:S32C	S	+	2	0	OR4D5	123315628	0.003000	0.15002	0.879000	0.34478	0.079000	0.17450	1.608000	0.36847	1.185000	0.42971	0.655000	0.94253	TCT	OR4D5	-	prints_GPCR_Rhodpsn	ENSG00000171014		0.453	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	-	0	62	0	C	NM_001001965		123810418	1	tier1	-	no_errors	ENST00000307033	ensembl	human	known	74_37	missense	11.88	89	12	SNP	0.283	G	G	123810418	C	G	123810418	3	3	15	1	0	0	0	0	1	0	0	0	11096	913	32	5	97	5	OR4D5	11	123810418	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	20984230	123810418	11196098	86	4582											
RECQL	5965	genome.wustl.edu	37	chr12	21639443	21639443	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatttaacatggttgcTgaaattcctaattgttttaa	13	16	7	5	0	0	1	0	1	0	0	1	2	1	1	1	1	3	4	1	1	5	8			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:21639443T>C	ENST00000444129.2	-	5	939	c.471A>G	c.(469-471)tcA>tcG	p.S157S	RECQL_ENST00000421138.2_Silent_p.S157S	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	157	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ACATGGTTGCTGAAATTCCTA	0.308								Other identified genes with known or suspected DNA repair function																																									0													65	64	64					12																	21639443		2203	4298	6501	SO:0001819	synonymous_variant	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.471A>G	12.37:g.21639443T>C			A8K6G2	Silent	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S157	ENST00000444129.2	37	c.471	CCDS31756.1	12																																																																																			RECQL	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000004700		0.308	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1		0	85	0	T	NM_002907		21639443	-1			no_errors	ENST00000421138	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	C	C	21639443	T	C	21639443	2	2	15	1	0	0	0	0	0	0	0	1	13246	1567	55	4		4	RECQL	12	21639443	Silent	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09		21639443	112212452	87	4583											
ITPR2	3709	genome.wustl.edu	37	chr12	26774191	26774191	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatctgccttgatttgcttGtagttatctacgtcttgatt	7	19	8	7	1	3	3	0	2	3	1	3	3	3	3	1	0	3	3	1	0	3	8			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:26774191G>T	ENST00000381340.3	-	26	3743	c.3327C>A	c.(3325-3327)taC>taA	p.Y1109*	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1109					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGATTTGCTTGTAGTTATCTA	0.373																																																	0													260	228	238					12																	26774191		1860	4123	5983	SO:0001587	stop_gained	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3327C>A	12.37:g.26774191G>T	ENSP00000370744:p.Tyr1109*		O94773	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Y1109*	ENST00000381340.3	37	c.3327	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	45	11.534383	0.99573	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.82	4.82	0.62117	.	0.255861	0.40818	N	0.001007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1004	0.89504	0.0:0.0:1.0:0.0	.	.	.	.	X	1109	.	ENSP00000370744:Y1109X	Y	-	3	2	ITPR2	26665458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.968000	0.56809	2.501000	0.84356	0.650000	0.86243	TAC	ITPR2	-	superfamily_ARM-type_fold	ENSG00000123104		0.373	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	-	0	38	0	G	NM_002223		26774191	-1	tier1	-	no_errors	ENST00000381340	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	26774191	G	T	26774191	4	4	15	1	0	0	0	0	0	1	0	0	7948	1372	48	3	4906	3	ITPR2	12	26774191	Nonsense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	5134748	26774191	107077704	88	4584											
ERBB3	2065	genome.wustl.edu	37	chr12	56494025	56494025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaatcttggggagtcttGccaggtaagttctgttgctg	6	14	15	6	0	3	0	0	0	3	0	3	1	3	1	1	4	2	5	1	4	2	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:56494025G>T	ENST00000267101.3	+	26	3637	c.3197G>T	c.(3196-3198)tGc>tTc	p.C1066F	ERBB3_ENST00000415288.2_Missense_Mutation_p.C1007F|ERBB3_ENST00000450146.2_Missense_Mutation_p.C423F|ERBB3_ENST00000549832.1_Missense_Mutation_p.C186F|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Missense_Mutation_p.C307F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1066					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GGGGAGTCTTGCCAGGTAAGT	0.433																																																	0													129	128	128					12																	56494025		2203	4300	6503	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3197G>T	12.37:g.56494025G>T	ENSP00000267101:p.Cys1066Phe		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C1066F	ENST00000267101.3	37	c.3197	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.880679	0.00532	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.77620	-0.98;-0.89;-0.98;-1.11;-0.84	5.53	-0.656	0.11436	.	0.809070	0.11242	N	0.584580	T	0.53384	0.1793	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.019;0.028;0.003	B;B;B	0.12837	0.008;0.008;0.004	T	0.34204	-0.9838	10	0.10111	T	0.7	.	5.4626	0.16626	0.1174:0.4379:0.3324:0.1122	.	1007;186;1066	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	F	1066;423;1007;189;307;186	ENSP00000267101:C1066F;ENSP00000399178:C423F;ENSP00000408340:C1007F;ENSP00000449129:C307F;ENSP00000448729:C186F	ENSP00000267101:C1066F	C	+	2	0	ERBB3	54780292	0.966000	0.33281	0.010000	0.14722	0.046000	0.14306	1.911000	0.39937	-0.275000	0.09219	-0.820000	0.03113	TGC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.433	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	-	0	31	0	G			56494025	1	tier1	-	no_errors	ENST00000267101	ensembl	human	known	74_37	missense	25.00	36	12	SNP	0.002	T	T	56494025	G	T	56494025	3	4	15	1	0	0	0	0	1	0	0	0	5224	1319	46	3	3430	3	ERBB3	12	56494025	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	29719834	56494025	77357870	89	4585											
BBS10	79738	genome.wustl.edu	37	chr12	76741020	76741020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtcaccatctgctgggcGgtacacagaaaaatctttct	11	11	8	11	1	4	1	1	0	3	1	4	1	4	1	1	2	2	2	1	2	3	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:76741020G>T	ENST00000393262.3	-	2	828	c.745C>A	c.(745-747)Cgc>Agc	p.R249S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	249					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TCTGCTGGGCGGTACACAGAA	0.423									Bardet-Biedl syndrome																																								0													75	65	69					12																	76741020		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.745C>A	12.37:g.76741020G>T	ENSP00000376946:p.Arg249Ser		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.R249S	ENST00000393262.3	37	c.745	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	g	12.05	1.822834	0.32237	.	.	ENSG00000179941	ENST00000393262	T	0.77489	-1.1	5.13	1.48	0.22813	.	0.186307	0.48286	D	0.000192	T	0.59487	0.2197	N	0.22421	0.69	0.22127	N	0.999348	B	0.02656	0.0	B	0.10450	0.005	T	0.39961	-0.9588	10	0.18710	T	0.47	-0.7116	8.7625	0.34683	0.7802:0.0:0.2198:0.0	.	249	Q8TAM1	BBS10_HUMAN	S	249	ENSP00000376946:R249S	ENSP00000376946:R249S	R	-	1	0	BBS10	75265151	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.436000	0.44819	0.156000	0.19299	-0.295000	0.09555	CGC	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000179941		0.423	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2		0	19	0	G	NM_024685		76741020	-1			no_errors	ENST00000393262	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	76741020	G	T	76741020	3	4	15	1	0	0	0	0	1	0	0	0	1337	1116	39	2	1430	2	BBS10	12	76741020	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	20246995	76741020	57110875	90	4586											
ACSS3	79611	genome.wustl.edu	37	chr12	81593158	81593158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggagaacgatgtgatgTagagaccctggaatggtcca	11	8	15	7	1	0	3	0	1	0	2	1	7	1	4	2	4	1	2	2	4	3	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:81593158T>C	ENST00000548058.1	+	9	2199	c.1289T>C	c.(1288-1290)gTa>gCa	p.V430A	ACSS3_ENST00000548324.1_Missense_Mutation_p.V112A|ACSS3_ENST00000261206.3_Missense_Mutation_p.V429A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	430						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CGATGTGATGTAGAGACCCTG	0.348																																																	0													85	80	82					12																	81593158		2203	4300	6503	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1289T>C	12.37:g.81593158T>C	ENSP00000449535:p.Val430Ala		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V430A	ENST00000548058.1	37	c.1289	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839499	0.71488	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.38240	1.15;1.15;1.15	6.05	6.05	0.98169	AMP-dependent synthetase/ligase (1);	0.116033	0.64402	D	0.000013	T	0.27967	0.0689	N	0.16307	0.4	0.48975	D	0.999738	B;P	0.42456	0.123;0.78	B;B	0.40602	0.047;0.334	T	0.09952	-1.0651	10	0.66056	D	0.02	-12.3785	15.5757	0.76380	0.0:0.0:0.0:1.0	.	112;430	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	A	430;429;112	ENSP00000449535:V430A;ENSP00000261206:V429A;ENSP00000448965:V112A	ENSP00000261206:V429A	V	+	2	0	ACSS3	80117289	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.256000	0.65468	2.320000	0.78422	0.528000	0.53228	GTA	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.348	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	25	0	T	NM_024560		81593158	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	C	C	81593158	T	C	81593158	3	2	15	1	0	0	0	0	1	0	0	0	190	1638	57	4	1323	4	ACSS3	12	81593158	Missense_Mutation	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	4852138	81593158	52258737	91	4587											
GNPTAB	79158	genome.wustl.edu	37	chr12	102158696	102158696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttctttgggaatatcctCaaaaaggatttccgcctctg	9	16	7	9	1	3	0	1	0	2	0	5	2	5	2	3	2	0	0	3	2	4	5	rs281864985		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:102158696C>G	ENST00000299314.7	-	13	2261	c.1999G>C	c.(1999-2001)Gag>Cag	p.E667Q	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	667					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GGAATATCCTCAAAAAGGATT	0.428																																																	0													86	86	86					12																	102158696		2203	4300	6503	SO:0001583	missense	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1999G>C	12.37:g.102158696C>G	ENSP00000299314:p.Glu667Gln		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.E667Q	ENST00000299314.7	37	c.1999	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533068	0.45073	.	.	ENSG00000111670	ENST00000299314	D	0.96554	-4.05	5.96	5.96	0.96718	.	0.164580	0.52532	D	0.000077	D	0.95516	0.8543	L	0.36672	1.1	0.80722	D	1	D	0.56035	0.974	P	0.49140	0.601	D	0.95182	0.8300	10	0.52906	T	0.07	-31.1381	20.422	0.99049	0.0:1.0:0.0:0.0	.	667	Q3T906	GNPTA_HUMAN	Q	667	ENSP00000299314:E667Q	ENSP00000299314:E667Q	E	-	1	0	GNPTAB	100682827	1.000000	0.71417	0.993000	0.49108	0.106000	0.19336	3.450000	0.52957	2.832000	0.97577	0.655000	0.94253	GAG	GNPTAB	-	NULL	ENSG00000111670		0.428	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	-	0	27	0	C			102158696	-1	tier1	-	no_errors	ENST00000299314	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	G	G	102158696	C	G	102158696	3	3	15	1	0	0	0	0	1	0	0	0	6571	835	29	5	1807	5	GNPTAB	12	102158696	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	20565538	102158696	31693199	92	4588											
TCTN1	79600	genome.wustl.edu	37	chr12	111072534	111072534	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttagaacagtgtgaaGaaattgaagccctcagcatg	16	10	9	6	0	1	4	1	2	0	2	1	4	1	4	1	0	3	1	1	0	7	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:111072534G>T	ENST00000551590.1	+	6	928	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	TCTN1_ENST00000397659.4_Nonsense_Mutation_p.E258*|AC144522.1_ENST00000408319.1_RNA|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000377654.3_Nonsense_Mutation_p.E80*|HVCN1_ENST00000548312.1_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	258					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						ACAGTGTGAAGAAATTGAAGC	0.363																																																	0													53	51	51					12																	111072534		1805	4073	5878	SO:0001587	stop_gained	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.772G>T	12.37:g.111072534G>T	ENSP00000448735:p.Glu258*		A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Nonsense_Mutation	SNP	pfam_DUF1619	p.E258*	ENST00000551590.1	37	c.772	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.066088	0.97251	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000377654;ENST00000548095;ENST00000397657;ENST00000397659;ENST00000397652	.	.	.	5.66	-0.589	0.11683	.	0.882738	0.10251	N	0.697125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-6.7643	5.8843	0.18872	0.3876:0.1295:0.4829:0.0	.	.	.	.	X	198;258;80;258;80;258;202	.	ENSP00000366882:E80X	E	+	1	0	TCTN1	109556917	0.000000	0.05858	0.130000	0.21974	0.383000	0.30230	0.071000	0.14594	-0.069000	0.12931	-0.894000	0.02916	GAA	TCTN1	-	pfam_DUF1619	ENSG00000204852		0.363	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	-	0	27	0	G	NM_024549		111072534	1	tier1	-	no_errors	ENST00000397659	ensembl	human	known	74_37	nonsense	11.36	39	5	SNP	0.133	T	T	111072534	G	T	111072534	4	4	15	1	0	0	0	0	0	1	0	0	15769	943	33	3	966	3	TCTN1	12	111072534	Nonsense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	8913838	111072534	22779361	93	4589											
SETD8	387893	genome.wustl.edu	37	chr12	123879766	123879766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaatgcagccatcgccaaGcaagccctgaaaaagcccat	15	4	7	15	1	0	1	0	1	0	0	1	1	0	1	5	0	5	2	5	0	5	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:123879766G>T	ENST00000402868.3	+	4	888	c.462G>T	c.(460-462)aaG>aaT	p.K154N	SETD8_ENST00000330479.4_Missense_Mutation_p.K154N|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	195					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		CCATCGCCAAGCAAGCCCTGA	0.502																																																	0													19	21	20					12																	123879766		2203	4297	6500	SO:0001583	missense	0			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.462G>T	12.37:g.123879766G>T	ENSP00000384629:p.Lys154Asn		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.K154N	ENST00000402868.3	37	c.462	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038065	0.54896	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.98493	-4.96;-4.96	5.7	5.7	0.88788	.	0.126462	0.51477	D	0.000086	D	0.96700	0.8923	L	0.59436	1.845	0.48901	D	0.999726	P;B	0.36683	0.565;0.162	B;B	0.38712	0.28;0.109	D	0.95242	0.8352	10	0.33141	T	0.24	-21.0846	12.3463	0.55122	0.0771:0.0:0.9229:0.0	.	195;154	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	N	154;154;145	ENSP00000384629:K154N;ENSP00000332995:K154N	ENSP00000332995:K154N	K	+	3	2	SETD8	122445719	1.000000	0.71417	0.990000	0.47175	0.823000	0.46562	3.362000	0.52314	2.711000	0.92665	0.561000	0.74099	AAG	SETD8	-	pirsf_Hist_H4-K20_MeTrfase	ENSG00000183955		0.502	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	-	0	32	0	G	NM_020382		123879766	1	tier1	-	no_errors	ENST00000330479	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	123879766	G	T	123879766	3	4	15	1	0	0	0	0	1	0	0	0	14182	962	34	3	476	3	SETD8	12	123879766	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	12807232	123879766	9972129	94	4590											
DNAH10	196385	genome.wustl.edu	37	chr12	124256179	124256179	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactgagaaccgaatctctAggccaacctctaaacagaga	15	7	7	12	1	3	2	1	1	2	2	4	5	3	2	3	1	3	0	3	1	6	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:124256179A>G	ENST00000409039.3	+	3	172	c.147A>G	c.(145-147)ctA>ctG	p.L49L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	49	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGAATCTCTAGGCCAACCTC	0.423																																																	0													92	83	86					12																	124256179		1874	4098	5972	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.147A>G	12.37:g.124256179A>G			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.L49	ENST00000409039.3	37	c.147	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	24	0	A			124256179	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	42.86	20	15	SNP	0.000	G	G	124256179	A	G	124256179	2	3	15	1	0	0	0	0	0	0	0	1	4612	407	15	4		4	DNAH10	12	124256179	Silent	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09	376413	124256179	9595716	95	4591											
NCOR2	9612	genome.wustl.edu	37	chr12	124904564	124904564	+	Frame_Shift_Del	DEL	T	T	-																															tcttatagttctcattcttcTtagtcaggtagtaatagagg																										TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr12:124904564delT	ENST00000405201.1	-	13	1421	c.1421delA	c.(1420-1422)aagfs	p.K475fs	NCOR2_ENST00000404121.2_Frame_Shift_Del_p.K45fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.K475fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.K474fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.K474fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.K475fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	475	SANT 1. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCATTCTTCTTAGTCAGGTA	0.572																																																	0													110	117	115					12																	124904564		1997	4165	6162	SO:0001589	frameshift_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1421delA	12.37:g.124904564delT	ENSP00000384018:p.Lys475fs		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K474fs	ENST00000405201.1	37	c.1421	CCDS41858.2	12																																																																																			NCOR2	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000196498		0.572	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0	33	0	T	NM_006312		124904564	-1	tier1		no_errors	ENST00000356219	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	124904564	T	-	124904564	7	5	15	1	0	1	0	1	0	0	0	0	10275	1609	56	0	6287	0	NCOR2	12	124904564	Frame_Shift_Del	DEL	T	TCGA-IG-A3I8-01A-11D-A247-09	648385	124904564	8947331	96	4592											
TUBA3C	7278	genome.wustl.edu	37	chr13	19748204	19748204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcgagcccaggcctccgcGatggccgtggtgttgctcag	5	7	16	13	4	1	0	1	0	0	0	2	2	2	0	4	4	2	2	4	4	0	1	rs1052403		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr13:19748204G>A	ENST00000400113.3	-	5	1256	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	384					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGGCCTCCGCGATGGCCGTGG	0.637																																																	0													95	86	89					13																	19748204		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1152C>T	13.37:g.19748204G>A			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.I384	ENST00000400113.3	37	c.1152	CCDS9284.1	13																																																																																			TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Tubulin,prints_Delta_tubulin	ENSG00000198033		0.637	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	65	0	G	NM_006001		19748204	-1	tier1	rs1052403	no_errors	ENST00000400113	ensembl	human	known	74_37	silent	17.71	79	17	SNP	1.000	A	A	19748204	G	A	19748204	2	1	15	1	0	0	0	0	0	0	0	1	16795	1048	37	1		1	TUBA3C	13	19748204	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		19748204	95421674	97	4593											
ATP8A2	51761	genome.wustl.edu	37	chr13	26106431	26106431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgacacaaggcagacaatGcagttaacaaaaagaaaaca	22	3	8	8	1	0	2	0	0	0	2	0	3	0	2	0	1	4	3	0	1	7	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr13:26106431G>T	ENST00000381655.2	+	5	584	c.442G>T	c.(442-444)Gca>Tca	p.A148S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A108S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	108					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGCAGACAATGCAGTTAACAA	0.323																																																	0													95	83	86					13																	26106431		1820	4072	5892	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.442G>T	13.37:g.26106431G>T	ENSP00000371070:p.Ala148Ser		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A148S	ENST00000381655.2	37	c.442	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052196	0.36181	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000381648	D;D	0.89123	-2.47;-2.47	5.73	4.77	0.60923	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.155915	0.56097	D	0.000033	T	0.81711	0.4880	L	0.35593	1.075	0.30859	N	0.733758	B;B;B	0.31383	0.242;0.321;0.033	B;B;B	0.36766	0.232;0.149;0.068	T	0.74876	-0.3515	10	0.19590	T	0.45	.	7.0021	0.24815	0.2552:0.0:0.7448:0.0	.	108;108;108	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	S	148;108;108	ENSP00000371070:A148S;ENSP00000255283:A108S	ENSP00000255283:A108S	A	+	1	0	ATP8A2	25004431	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.249000	0.51437	2.702000	0.92279	0.643000	0.83706	GCA	ATP8A2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000132932		0.323	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2		0	18	0	G	NM_016529		26106431	1			no_errors	ENST00000381655	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	26106431	G	T	26106431	3	4	15	1	0	0	0	0	1	0	0	0	1194	1319	46	3	460	3	ATP8A2	13	26106431	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	6358227	26106431	89063447	98	4594											
THSD1	55901	genome.wustl.edu	37	chr13	52951806	52951806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgagacactcttgtGactgggggacggtccccgac	6	10	12	13	2	1	2	0	2	1	1	3	5	3	3	3	3	0	0	3	3	0	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr13:52951806G>T	ENST00000258613.4	-	5	2477	c.2299C>A	c.(2299-2301)Cac>Aac	p.H767N	THSD1_ENST00000349258.4_Missense_Mutation_p.H714N|THSD1_ENST00000544466.1_Missense_Mutation_p.H388N	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	767					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACACTCTTGTGACTGGGGGAC	0.542																																																	0													128	136	133					13																	52951806		2203	4300	6503	SO:0001583	missense	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.2299C>A	13.37:g.52951806G>T	ENSP00000258613:p.His767Asn		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.H767N	ENST00000258613.4	37	c.2299	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306941	0.40795	.	.	ENSG00000136114	ENST00000349258;ENST00000544466;ENST00000258613	T;T;T	0.32272	2.19;1.46;2.37	5.38	3.53	0.40419	.	0.348195	0.32719	N	0.005723	T	0.31949	0.0813	M	0.65975	2.015	0.27276	N	0.958245	P;P	0.37914	0.493;0.611	B;B	0.39379	0.298;0.159	T	0.21827	-1.0234	10	0.48119	T	0.1	-10.8397	8.8976	0.35474	0.0776:0.2657:0.6567:0.0	.	714;767	Q9NS62-2;Q9NS62	.;THSD1_HUMAN	N	714;388;767	ENSP00000340650:H714N;ENSP00000438512:H388N;ENSP00000258613:H767N	ENSP00000258613:H767N	H	-	1	0	THSD1	51849807	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.664000	0.54525	1.410000	0.46936	0.502000	0.49764	CAC	THSD1	-	NULL	ENSG00000136114		0.542	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3		0	62	0	G			52951806	-1			no_errors	ENST00000258613	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	52951806	G	T	52951806	3	4	15	1	0	0	0	0	1	0	0	0	15924	1290	45	3	263	3	THSD1	13	52951806	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	26845375	52951806	62218072	99	4595											
NALCN	259232	genome.wustl.edu	37	chr13	101890252	101890252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaagtgcttccaaatCaaaaagtactgtaaaagcca	17	9	6	9	0	2	1	2	0	0	1	3	1	3	1	2	0	3	3	2	0	7	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr13:101890252C>A	ENST00000251127.6	-	12	1369	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.D430Y	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	430					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTCCAAATCAAAAAGTACT	0.313																																																	0													95	102	100					13																	101890252		2203	4299	6502	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1288G>T	13.37:g.101890252C>A	ENSP00000251127:p.Asp430Tyr		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D430Y	ENST00000251127.6	37	c.1288	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059861	0.76074	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98400	-4.91;-4.91	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	L	0.57536	1.79	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.72625	0.978;0.945;0.959	D	0.99880	1.1111	10	0.72032	D	0.01	.	19.1638	0.93546	0.0:1.0:0.0:0.0	.	430;430;430	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	Y	430	ENSP00000251127:D430Y;ENSP00000365367:D430Y	ENSP00000251127:D430Y	D	-	1	0	NALCN	100688253	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	7.441000	0.80485	2.593000	0.87608	0.491000	0.48974	GAT	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.313	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2		0	27	0	C	NM_052867		101890252	-1			no_errors	ENST00000251127	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	101890252	C	A	101890252	3	1	15	1	0	0	0	0	1	0	0	0	10186	826	29	3	4060	3	NALCN	13	101890252	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	48938446	101890252	13279626	100	4596											
KHNYN	23351	genome.wustl.edu	37	chr14	24900129	24900130	+	Frame_Shift_Del	DEL	AG	AG	-																															gccccaaggaaaacgccagcAgagccaaggtgaacgccttc																										TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:24900129_24900130delAG	ENST00000251343.5	+	2	332_333	c.193_194delAG	c.(193-195)agafs	p.R65fs	CBLN3_ENST00000267406.6_5'Flank|CBLN3_ENST00000555436.1_5'UTR|KHNYN_ENST00000556842.1_Frame_Shift_Del_p.R65fs|KHNYN_ENST00000554268.1_5'Flank|KHNYN_ENST00000553935.1_Frame_Shift_Del_p.R65fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	65							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AAACGCCAGCAGAGCCAAGGTG	0.653																																																	0																																										SO:0001589	frameshift_variant	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.193_194delAG	14.37:g.24900131_24900132delAG	ENSP00000251343:p.Arg65fs		Q86TZ6|Q8IUQ2|Q96BA9	Frame_Shift_Del	DEL	pfam_RNase_Zc3h12	p.R65fs	ENST00000251343.5	37	c.193_194	CCDS32058.1	14																																																																																			KHNYN	-	NULL	ENSG00000100441		0.653	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1		0	41	0	AG			24900130	1	tier1		no_errors	ENST00000251343	ensembl	human	known	74_37	frame_shift_del	39.53	26	17	DEL	1.000:1.000	-	-	24900130	AG	-	24900129	7	5	15	1	0	1	0	1	0	0	0	0	8177	180	7	0	195	0	KHNYN	14	24900129	Frame_Shift_Del	DEL	AG	TCGA-IG-A3I8-01A-11D-A247-09		24900129	82449411	101	4597											
PRPF39	55015	genome.wustl.edu	37	chr14	45564717	45564717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactgtagaaaataatcCtcaggattttacaggctggg	15	10	10	6	0	1	1	1	0	0	1	2	3	2	2	1	3	2	2	1	3	7	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:45564717C>A	ENST00000355765.6	+	2	445	c.275C>A	c.(274-276)cCt>cAt	p.P92H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	92					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAAAATAATCCTCAGGATTTT	0.363																																																	0													20	20	20					14																	45564717		1851	4100	5951	SO:0001583	missense	0			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.275C>A	14.37:g.45564717C>A	ENSP00000348010:p.Pro92His		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	smart_HAT	p.P92H	ENST00000355765.6	37	c.275	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936948	0.52972	.	.	ENSG00000185246	ENST00000355765;ENST00000553605	T;T	0.61040	0.14;0.14	5.87	4.88	0.63580	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.71986	0.3405	M	0.73430	2.235	0.54753	D	0.999986	P	0.47604	0.898	P	0.59424	0.857	T	0.74645	-0.3596	9	0.87932	D	0	-11.0116	13.1888	0.59697	0.0:0.8937:0.0:0.1063	.	92	Q86UA1	PRP39_HUMAN	H	92	ENSP00000348010:P92H;ENSP00000452428:P92H	ENSP00000348010:P92H	P	+	2	0	PRPF39	44634467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.504000	0.53347	2.779000	0.95612	0.591000	0.81541	CCT	PRPF39	-	NULL	ENSG00000185246		0.363	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2	-	0	8	0	C			45564717	1	tier1	-	no_errors	ENST00000355765	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	A	A	45564717	C	A	45564717	3	1	15	1	0	0	0	0	1	0	0	0	12611	681	24	3	277	3	PRPF39	14	45564717	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	20664588	45564717	61784823	102	4598											
NIN	51199	genome.wustl.edu	37	chr14	51238069	51238069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacaaatgccggatttcagCcttaaagctggccagagccg	12	7	10	12	2	1	1	1	0	0	1	1	2	1	2	4	2	5	1	4	2	4	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:51238069C>A	ENST00000382041.3	-	10	1289	c.1099G>T	c.(1099-1101)Gct>Tct	p.A367S	NIN_ENST00000324330.9_Missense_Mutation_p.A367S|NIN_ENST00000389868.3_Missense_Mutation_p.A367S|NIN_ENST00000453196.1_Missense_Mutation_p.A367S|NIN_ENST00000382043.4_Missense_Mutation_p.A367S|NIN_ENST00000245441.5_Missense_Mutation_p.A367S|NIN_ENST00000530997.2_Missense_Mutation_p.A367S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	367					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CGGATTTCAGCCTTAAAGCTG	0.478			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													110	100	103					14																	51238069		2203	4300	6503	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1099G>T	14.37:g.51238069C>A	ENSP00000371472:p.Ala367Ser		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.A367S	ENST00000382041.3	37	c.1099	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925427	0.52759	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98;1.98	5.67	4.68	0.58851	.	0.148398	0.64402	D	0.000008	T	0.14917	0.0360	N	0.02539	-0.55	0.44175	D	0.99698	P;B;D;P;D	0.71674	0.832;0.427;0.978;0.639;0.998	B;B;P;B;D	0.80764	0.297;0.082;0.712;0.122;0.994	T	0.30060	-0.9991	10	0.11485	T	0.65	-10.5403	5.4021	0.16301	0.1944:0.6551:0.0:0.1504	.	373;367;367;367;367	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	S	367;367;367;367;373;367;367;367;329	ENSP00000245441:A367S;ENSP00000374518:A367S;ENSP00000371474:A367S;ENSP00000371472:A367S;ENSP00000324210:A367S;ENSP00000412391:A367S;ENSP00000398641:A329S	ENSP00000245441:A367S	A	-	1	0	NIN	50307819	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.960000	0.49161	2.670000	0.90874	0.555000	0.69702	GCT	NIN	-	NULL	ENSG00000100503		0.478	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	36	0	C	NM_182946		51238069	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	51238069	C	A	51238069	3	1	15	1	0	0	0	0	1	0	0	0	10456	739	26	3	5538	3	NIN	14	51238069	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	5673352	51238069	56111471	103	4599											
ESR2	2100	genome.wustl.edu	37	chr14	64727213	64727213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtaccaactccttgtcGgccaacttggtcagggacat	9	11	10	11	1	1	0	1	0	0	0	3	1	2	1	3	3	3	1	3	3	3	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:64727213G>A	ENST00000341099.4	-	5	1323	c.906C>T	c.(904-906)gcC>gcT	p.A302A	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Silent_p.A302A|ESR2_ENST00000267525.6_Silent_p.A302A|ESR2_ENST00000358599.5_Silent_p.A302A|ESR2_ENST00000553796.1_Silent_p.A302A|ESR2_ENST00000357782.2_Silent_p.A302A|ESR2_ENST00000554572.1_Silent_p.A302A|ESR2_ENST00000555278.1_Silent_p.A302A|ESR2_ENST00000353772.3_Silent_p.A302A|ESR2_ENST00000557772.1_Silent_p.A302A	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	302	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A302A(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ACTCCTTGTCGGCCAACTTGG	0.582																																																	2	Substitution - coding silent(2)	lung(2)											102	103	103					14																	64727213		2203	4300	6503	SO:0001819	synonymous_variant	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.906C>T	14.37:g.64727213G>A			A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A302	ENST00000341099.4	37	c.906	CCDS9762.1	14																																																																																			ESR2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000140009		0.582	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	-	0	51	0	G			64727213	-1	tier1	-	no_errors	ENST00000341099	ensembl	human	known	74_37	silent	36.99	46	27	SNP	0.007	A	A	64727213	G	A	64727213	2	1	15	1	0	0	0	0	0	0	0	1	5273	1103	39	1		1	ESR2	14	64727213	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	13489144	64727213	42622327	104	4600											
HSPA2	3306	genome.wustl.edu	37	chr14	65009115	65009115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtcgtctgagcaaggaCgacattgaccggatggtgca	12	7	14	8	3	1	2	0	2	1	0	2	5	1	4	1	4	2	2	1	4	2	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:65009115C>T	ENST00000394709.1	+	2	1624	c.1548C>T	c.(1546-1548)gaC>gaT	p.D516D	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Silent_p.D516D			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	516					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TGAGCAAGGACGACATTGACC	0.547																																					Pancreas(136;1211 1835 24894 31984 38227)												0													74	77	76					14																	65009115		2203	4300	6503	SO:0001819	synonymous_variant	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1548C>T	14.37:g.65009115C>T			Q15508|Q53XM3|Q9UE78	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D516	ENST00000394709.1	37	c.1548	CCDS9766.1	14																																																																																			HSPA2	-	pfam_Hsp_70_fam	ENSG00000126803		0.547	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1		0	21	0	C			65009115	1			no_errors	ENST00000247207	ensembl	human	known	74_37	silent	6.52	43	3	SNP	1.000	T	T	65009115	C	T	65009115	2	4	15	1	0	0	0	0	0	0	0	1	7438	535	19	1		1	HSPA2	14	65009115	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	281902	65009115	42340425	105	4601											
HEATR4	399671	genome.wustl.edu	37	chr14	73962027	73962027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcttcctccctcacttttCccatgaccatctccagcttg	5	15	4	17	0	2	1	1	1	1	0	6	1	5	1	5	0	2	2	5	0	0	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:73962027C>T	ENST00000553558.1	-	16	3011	c.2690G>A	c.(2689-2691)gGa>gAa	p.G897E	C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.G850E|HEATR4_ENST00000334988.2_Missense_Mutation_p.G897E	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	897										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCTCACTTTTCCCATGACCAT	0.383																																																	0													181	154	163					14																	73962027		2203	4300	6503	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2690G>A	14.37:g.73962027C>T	ENSP00000450444:p.Gly897Glu		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.G897E	ENST00000553558.1	37	c.2690	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.380636	0.00205	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.19250	2.16	4.96	-5.29	0.02747	.	2.235850	0.01505	N	0.017693	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36114	-0.9761	10	0.06365	T	0.9	4.5947	9.9837	0.41828	0.0:0.1526:0.1225:0.7249	.	897	Q86WZ0	HEAT4_HUMAN	E	897;850	ENSP00000450444:G897E	ENSP00000335447:G850E	G	-	2	0	HEATR4	73031780	0.000000	0.05858	0.002000	0.10522	0.052000	0.14988	-1.795000	0.01752	-1.027000	0.03325	-0.175000	0.13238	GGA	HEATR4	-	NULL	ENSG00000187105		0.383	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	-	0	54	0	C	NM_203309		73962027	-1	tier1	-	no_errors	ENST00000334988	ensembl	human	known	74_37	missense	32.05	53	25	SNP	0.000	T	T	73962027	C	T	73962027	3	4	15	1	0	0	0	0	1	0	0	0	7057	855	30	3	402	3	HEATR4	14	73962027	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	8952912	73962027	33387513	106	4602											
COX8C	341947	genome.wustl.edu	37	chr14	93813699	93813699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcccgctccccgcttcGcccactcggggcccccgcgc	2	5	11	23	6	0	0	0	0	0	0	3	0	1	0	6	2	2	3	6	2	0	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:93813699G>A	ENST00000342144.2	+	1	163	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	UNC79_ENST00000256339.4_Intron	NM_182971.2	NP_892016.1	Q7Z4L0	COX8C_HUMAN	cytochrome c oxidase subunit VIIIC	29						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TCCCCGCTTCGCCCACTCGGG	0.756																																					GBM(134;630 1800 8342 13106 15419)												0													9	10	10					14																	93813699		2162	4150	6312	SO:0001583	missense	0			AY161004	CCDS9910.1	14q32.13	2011-07-04	2011-05-25			ENSG00000187581		"Mitochondrial respiratory chain complex / Complex IV"	24382	protein-coding gene	gene with protein product	"cytochrome c oxidase subunit VIII isoform 3"		"cytochrome c oxidase subunit 8C"			12909344	Standard	NM_182971		Approved	COX8-3	uc001ybt.1	Q7Z4L0		ENST00000342144.2:c.85G>A	14.37:g.93813699G>A	ENSP00000340568:p.Ala29Thr		Q495K7	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8	p.A29T	ENST00000342144.2	37	c.85	CCDS9910.1	14	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669319	0.14776	.	.	ENSG00000187581	ENST00000342144	.	.	.	2.6	-2.3	0.06785	.	.	.	.	.	T	0.26448	0.0646	.	.	.	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.26430	-1.0103	7	0.62326	D	0.03	.	3.5519	0.07850	0.4705:0.2318:0.2978:0.0	.	29	Q7Z4L0	COX8C_HUMAN	T	29	.	ENSP00000340568:A29T	A	+	1	0	COX8C	92883452	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.535000	0.02210	-0.438000	0.07232	-0.361000	0.07541	GCC	COX8C	-	NULL	ENSG00000187581		0.756	COX8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX8C	HGNC	protein_coding	OTTHUMT00000412769.1	-	0	13	0	G	NM_182971		93813699	1	tier1	-	no_errors	ENST00000342144	ensembl	human	known	74_37	missense	55.88	15	19	SNP	0.001	A	A	93813699	G	A	93813699	3	1	15	1	0	0	0	0	1	0	0	0	3793	1087	38	1	87	1	COX8C	14	93813699	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	19851672	93813699	13535841	107	4603											
PPP4R4	57718	genome.wustl.edu	37	chr14	94710984	94710984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttaggtatctaagcttCtgaattctggagtatattta	11	19	7	4	0	3	1	0	1	3	0	3	2	3	2	0	2	1	3	0	2	8	11			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:94710984C>T	ENST00000304338.3	+	12	1433	c.1279C>T	c.(1279-1281)Ctg>Ttg	p.L427L		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	427					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ATCTAAGCTTCTGAATTCTGG	0.254																																																	0													51	60	57					14																	94710984		2176	4267	6443	SO:0001819	synonymous_variant	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1279C>T	14.37:g.94710984C>T			Q9BUF8|Q9HCF0	Silent	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L427	ENST00000304338.3	37	c.1279	CCDS9921.1	14																																																																																			PPP4R4	-	superfamily_ARM-type_fold	ENSG00000119698		0.254	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	-	0	10	0	C	NM_058237		94710984	1	tier1	-	no_errors	ENST00000304338	ensembl	human	known	74_37	silent	24.00	19	6	SNP	1.000	T	T	94710984	C	T	94710984	2	4	15	1	0	0	0	0	0	0	0	1	12447	912	32	3		3	PPP4R4	14	94710984	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	897285	94710984	12638556	108	4604											
AHNAK2	113146	genome.wustl.edu	37	chr14	105418612	105418612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacatccacctggtcaGcctggaccttcaggtcagta	8	10	9	14	0	4	0	4	0	0	0	5	1	5	1	4	3	1	2	4	3	1	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr14:105418612G>T	ENST00000333244.5	-	7	3295	c.3176C>A	c.(3175-3177)gCt>gAt	p.A1059D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1059						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCTGGTCAGCCTGGACCTT	0.617																																																	0													99	110	106					14																	105418612		1958	4139	6097	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3176C>A	14.37:g.105418612G>T	ENSP00000353114:p.Ala1059Asp		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A1059D	ENST00000333244.5	37	c.3176	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	11.04	1.522720	0.27211	.	.	ENSG00000185567	ENST00000333244	T	0.00691	5.84	3.35	0.638	0.17742	.	.	.	.	.	T	0.01489	0.0048	M	0.82193	2.58	0.09310	N	1	P	0.43701	0.815	B	0.42522	0.39	T	0.41893	-0.9483	9	0.34782	T	0.22	.	4.9141	0.13837	0.2228:0.3163:0.4609:0.0	.	1059	Q8IVF2	AHNK2_HUMAN	D	1059	ENSP00000353114:A1059D	ENSP00000353114:A1059D	A	-	2	0	AHNAK2	104489657	0.005000	0.15991	0.001000	0.08648	0.011000	0.07611	-0.737000	0.04877	0.493000	0.27837	0.491000	0.48974	GCT	AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	91	0	G	NM_138420		105418612	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	9.52	114	12	SNP	0.000	T	T	105418612	G	T	105418612	3	4	15	1	0	0	0	0	1	0	0	0	415	971	34	3	14215	3	AHNAK2	14	105418612	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	10707628	105418612	1930928	109	4605											
OR4N4	283694	genome.wustl.edu	37	chr15	22382852	22382852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgctacatcgccatctGccggcctctgcactgttcaa	7	10	8	16	3	3	1	1	1	2	0	4	1	3	1	4	1	3	3	4	1	2	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr15:22382852G>T	ENST00000328795.4	+	1	471	c.380G>T	c.(379-381)tGc>tTc	p.C127F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCGCCATCTGCCGGCCTCTG	0.522																																																	0													161	142	149					15																	22382852		2189	4261	6450	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.380G>T	15.37:g.22382852G>T	ENSP00000332500:p.Cys127Phe		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C127F	ENST00000328795.4	37	c.380	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	13.71	2.318715	0.41096	.	.	ENSG00000183706	ENST00000328795	T	0.34472	1.36	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000056	T	0.73281	0.3567	H	0.98721	4.31	0.43761	D	0.996272	D	0.89917	1.0	D	0.83275	0.996	D	0.83437	0.0041	10	0.72032	D	0.01	-8.5394	12.2756	0.54733	0.0:0.0:1.0:0.0	.	127	Q8N0Y3	OR4N4_HUMAN	F	127	ENSP00000332500:C127F	ENSP00000332500:C127F	C	+	2	0	OR4N4	19884216	1.000000	0.71417	0.948000	0.38648	0.326000	0.28443	5.879000	0.69690	1.793000	0.52555	0.184000	0.17185	TGC	OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183706		0.522	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	-	0	123	0	G			22382852	1	tier1	-	no_errors	ENST00000328795	ensembl	human	known	74_37	missense	7.52	123	10	SNP	0.997	T	T	22382852	G	T	22382852	3	4	15	1	0	0	0	0	1	0	0	0	11117	1319	46	3	382	3	OR4N4	15	22382852	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		22382852	80148540	110	4606											
MAGEL2	54551	genome.wustl.edu	37	chr15	23889169	23889169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggcctgctggtggggcCgtgggcactgtcaccggtgt	3	8	20	10	2	1	0	1	0	0	0	1	0	1	0	3	7	1	2	3	7	0	0	rs555657199	byFrequency	TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr15:23889169C>T	ENST00000532292.1	-	1	2006	c.1912G>A	c.(1912-1914)Ggc>Agc	p.G638S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	521					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGGTGGGGCCGTGGGCACTG	0.587													C|||	4	0.000798722	0	0	5008	,	,		16329	0.004		0	False		,,,				2504	0																0													32	36	35					15																	23889169		2045	4187	6232	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1912G>A	15.37:g.23889169C>T	ENSP00000433433:p.Gly638Ser			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.G638S	ENST00000532292.1	37	c.1912		15																																																																																			MAGEL2	-	NULL	ENSG00000254585		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	13	0	C	NM_019066		23889169	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.027	T	T	23889169	C	T	23889169	3	4	15	1	0	0	0	0	1	0	0	0	9227	652	23	1	32	1	MAGEL2	15	23889169	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	1506317	23889169	78642223	111	4607											
DUOXA2	405753	genome.wustl.edu	37	chr15	45406923	45406923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctagcagcaagcttcctgctCatcttgccggggatccgtgg	6	10	12	13	2	2	0	1	0	1	0	4	1	4	1	3	3	5	4	3	3	2	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr15:45406923C>T	ENST00000323030.5	+	1	405	c.120C>T	c.(118-120)ctC>ctT	p.L40L	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	40					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCTTCCTGCTCATCTTGCCGG	0.572																																																	0													144	129	134					15																	45406923		2198	4298	6496	SO:0001819	synonymous_variant	0			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.120C>T	15.37:g.45406923C>T			B2RPI9|H0YNQ6	Silent	SNP	pfam_Dual_oxidase_maturation_fac	p.L40	ENST00000323030.5	37	c.120	CCDS10118.2	15																																																																																			DUOXA2	-	pfam_Dual_oxidase_maturation_fac	ENSG00000140274		0.572	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUOXA2	HGNC	protein_coding	OTTHUMT00000254142.1	-	0	76	0	C	NM_207581		45406923	1	tier1	-	no_errors	ENST00000323030	ensembl	human	known	74_37	silent	17.28	67	14	SNP	1.000	T	T	45406923	C	T	45406923	2	4	15	1	0	0	0	0	0	0	0	1	4817	813	29	3		3	DUOXA2	15	45406923	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	21517754	45406923	57124469	112	4608											
TRPM7	54822	genome.wustl.edu	37	chr15	50955214	50955214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatacacattccctcttggtCaaagtgctttctatccagga	10	14	6	11	0	3	0	1	0	2	0	5	1	5	1	2	2	2	1	2	2	4	6			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr15:50955214C>T	ENST00000313478.7	-	2	314	c.33G>A	c.(31-33)ttG>ttA	p.L11L	TRPM7_ENST00000560955.1_Silent_p.L11L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	11					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CCCTCTTGGTCAAAGTGCTTT	0.338																																																	0													73	71	71					15																	50955214		1811	4067	5878	SO:0001819	synonymous_variant	0			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.33G>A	15.37:g.50955214C>T			Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L11	ENST00000313478.7	37	c.33	CCDS42035.1	15																																																																																			TRPM7	-	NULL	ENSG00000092439		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	-	0	25	0	C	NM_017672		50955214	-1	tier1	-	no_errors	ENST00000313478	ensembl	human	known	74_37	silent	15.15	28	5	SNP	1.000	T	T	50955214	C	T	50955214	2	4	15	1	0	0	0	0	0	0	0	1	16639	825	29	3		3	TRPM7	15	50955214	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	5548291	50955214	51576178	113	4609											
VPS13C	54832	genome.wustl.edu	37	chr15	62209684	62209684	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaactgtattcactatGagaggtaagaagctgacttc	14	10	10	7	0	1	4	1	2	0	3	2	5	1	4	0	1	3	4	0	1	5	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr15:62209684G>T	ENST00000261517.5	-	60	7984	c.7911C>A	c.(7909-7911)ctC>ctA	p.L2637L	VPS13C_ENST00000249837.3_Silent_p.L2594L|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395898.3_Silent_p.L2594L|VPS13C_ENST00000395896.4_Silent_p.L2637L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATTCACTATGAGAGGTAAGA	0.413																																																	0													145	133	137					15																	62209684		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7911C>A	15.37:g.62209684G>T				Silent	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.L2637	ENST00000261517.5	37	c.7911	CCDS32257.1	15																																																																																			VPS13C	-	NULL	ENSG00000129003		0.413	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	46	0	G	NM_017684		62209684	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.939	T	T	62209684	G	T	62209684	2	4	15	1	0	0	0	0	0	0	0	1	17240	1277	45	3		3	VPS13C	15	62209684	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	11254470	62209684	40321708	114	4610											
CHSY1	22856	genome.wustl.edu	37	chr15	101718437	101718437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttctttgtgctcactcttcGacccagggagctgaaagggg	7	11	13	10	1	3	1	1	1	2	0	4	3	3	2	1	3	2	3	1	3	1	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr15:101718437G>C	ENST00000254190.3	-	3	2040	c.1565C>G	c.(1564-1566)tCg>tGg	p.S522W	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	522					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCACTCTTCGACCCAGGGAG	0.443																																																	0													96	101	99					15																	101718437		2203	4300	6503	SO:0001583	missense	0			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1565C>G	15.37:g.101718437G>C	ENSP00000254190:p.Ser522Trp		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.S522W	ENST00000254190.3	37	c.1565	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207616	0.58343	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.35421	1.31	5.8	5.8	0.92144	.	0.067399	0.64402	D	0.000008	T	0.34861	0.0912	L	0.36672	1.1	0.80722	D	1	B	0.24576	0.106	B	0.26770	0.073	T	0.04855	-1.0922	10	0.37606	T	0.19	-17.3296	20.063	0.97692	0.0:0.0:1.0:0.0	.	522	Q86X52	CHSS1_HUMAN	W	522;250	ENSP00000254190:S522W	ENSP00000254190:S522W	S	-	2	0	CHSY1	99535960	1.000000	0.71417	0.041000	0.18516	0.821000	0.46438	9.622000	0.98378	2.735000	0.93741	0.655000	0.94253	TCG	CHSY1	-	pfam_Chond_GalNAc	ENSG00000131873		0.443	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	-	0	30	0	G	NM_014918		101718437	-1	tier1	-	no_errors	ENST00000254190	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.872	C	C	101718437	G	C	101718437	3	2	15	1	0	0	0	0	1	0	0	0	3419	1059	37	5	847	5	CHSY1	15	101718437	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	39508753	101718437	812955	115	4611											
RRN3	54700	genome.wustl.edu	37	chr16	15159153	15159153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgagtctcctccagcGgtactcctaatgactggcag	8	10	10	13	1	1	2	0	2	1	0	4	2	3	2	3	2	3	3	3	2	2	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr16:15159153G>A	ENST00000198767.6	-	16	1712	c.1629C>T	c.(1627-1629)acC>acT	p.T543T	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000540462.1_Silent_p.T361T|RRN3_ENST00000327307.7_Silent_p.T510T|RRN3_ENST00000429751.2_Silent_p.T513T|RRN3_ENST00000563559.1_Silent_p.T543T	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	543	Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTCCTCCAGCGGTACTCCTAA	0.483																																																	0													125	109	114					16																	15159153		2197	4300	6497	SO:0001819	synonymous_variant	0			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1629C>T	16.37:g.15159153G>A			A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Silent	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.T543	ENST00000198767.6	37	c.1629	CCDS10559.1	16																																																																																			RRN3	-	pfam_RNA_pol_I_trans_ini_fac_RRN3	ENSG00000085721		0.483	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	-	0	65	0	G	NM_018427		15159153	-1	tier1	-	no_errors	ENST00000198767	ensembl	human	known	74_37	silent	11.29	110	14	SNP	0.012	A	A	15159153	G	A	15159153	2	1	15	1	0	0	0	0	0	0	0	1	13729	1103	39	1		1	RRN3	16	15159153	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		15159153	75195600	116	4612											
SLC9A5	6553	genome.wustl.edu	37	chr16	67288942	67288942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccctagggtgcaggctgGcttactggacttcctgctgt	5	11	13	12	0	0	0	0	0	0	0	1	1	1	1	3	4	4	4	3	4	2	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr16:67288942G>T	ENST00000299798.11	+	3	574	c.509G>T	c.(508-510)gGc>gTc	p.G170V	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	170					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGCAGGCTGGCTTACTGGAC	0.587																																																	0													77	83	81					16																	67288942		2106	4255	6361	SO:0001583	missense	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.509G>T	16.37:g.67288942G>T	ENSP00000299798:p.Gly170Val		A5PKY7|Q9Y626	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.G170V	ENST00000299798.11	37	c.509	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932764	0.52866	.	.	ENSG00000135740	ENST00000299798	T	0.15718	2.4	5.93	4.97	0.65823	Cation/H+ exchanger (1);	0.171277	0.51477	D	0.000093	T	0.38931	0.1059	M	0.85462	2.755	0.80722	D	1	P	0.51147	0.942	P	0.54140	0.743	T	0.34700	-0.9818	10	0.87932	D	0	.	14.5157	0.67818	0.071:0.0:0.929:0.0	.	170	Q14940	SL9A5_HUMAN	V	170	ENSP00000299798:G170V	ENSP00000299798:G170V	G	+	2	0	SLC9A5	65846443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.552000	0.73914	2.814000	0.96858	0.655000	0.94253	GGC	SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000135740		0.587	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	-	0	64	0	G			67288942	1	tier1	-	no_errors	ENST00000299798	ensembl	human	known	74_37	missense	43.09	70	53	SNP	1.000	T	T	67288942	G	T	67288942	3	4	15	1	0	0	0	0	1	0	0	0	14762	1203	42	3	519	3	SLC9A5	16	67288942	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	52129789	67288942	23065811	117	4613											
PDPR	55066	genome.wustl.edu	37	chr16	70154430	70154430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgctgtcgattgttggaaGacaaagagccagcccaggat	11	9	13	8	1	0	2	0	0	0	2	1	5	0	4	2	2	3	3	2	2	2	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr16:70154430G>A	ENST00000288050.4	+	3	992	c.35G>A	c.(34-36)aGa>aAa	p.R12K	PDPR_ENST00000568530.1_Missense_Mutation_p.R12K|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	12					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATTGTTGGAAGACAAAGAGCC	0.522																																																	0													45	49	48					16																	70154430		2093	4236	6329	SO:0001583	missense	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.35G>A	16.37:g.70154430G>A	ENSP00000288050:p.Arg12Lys		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.R12K	ENST00000288050.4	37	c.35	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	G	0.614	-0.823670	0.02755	.	.	ENSG00000090857	ENST00000288050	T	0.69040	-0.37	4.13	2.06	0.26882	.	0.963426	0.08588	N	0.923510	T	0.43366	0.1244	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31475	-0.9942	10	0.02654	T	1	.	5.0569	0.14537	0.2025:0.1686:0.6289:0.0	.	12	Q8NCN5	PDPR_HUMAN	K	12	ENSP00000288050:R12K	ENSP00000288050:R12K	R	+	2	0	PDPR	68711931	0.994000	0.37717	0.002000	0.10522	0.024000	0.10985	2.733000	0.47360	0.270000	0.21984	-0.366000	0.07423	AGA	PDPR	-	NULL	ENSG00000090857		0.522	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	-	0	116	0	G	NM_017990		70154430	1	tier1	-	no_errors	ENST00000288050	ensembl	human	known	74_37	missense	9.55	161	17	SNP	0.005	A	A	70154430	G	A	70154430	3	1	15	1	0	0	0	0	1	0	0	0	11728	942	33	3	37	3	PDPR	16	70154430	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	2865488	70154430	20200323	118	4614											
SLC38A8	146167	genome.wustl.edu	37	chr16	84050269	84050269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacagccctgaggggtcGgccagggcgctgggccccca	6	3	15	17	2	0	1	0	1	0	0	1	1	0	1	5	5	1	1	5	5	0	0	rs144115936		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr16:84050269G>A	ENST00000299709.3	-	8	1016	c.1017C>T	c.(1015-1017)gcC>gcT	p.A339A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	339					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAGGGGTCGGCCAGGGCGC	0.647																																																	0								G		0,4400		0,0,2200	45	49	48		1017	-7.8	0.6	16	dbSNP_134	48	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SLC38A8	NM_001080442.1		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		339/436	84050269	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.1017C>T	16.37:g.84050269G>A				Silent	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.A339	ENST00000299709.3	37	c.1017	CCDS32495.1	16																																																																																			SLC38A8	-	pfam_AA_transpt_TM	ENSG00000166558		0.647	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	-	0	11	0	G	NM_001080442		84050269	-1	tier1	rs144115936	no_errors	ENST00000299709	ensembl	human	known	74_37	silent	29.03	22	9	SNP	0.017	A	A	84050269	G	A	84050269	2	1	15	1	0	0	0	0	0	0	0	1	14655	1103	39	1		1	SLC38A8	16	84050269	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	13895839	84050269	6304484	119	4615											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	29	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	73.53	9	25	SNP	1.000	T	T	7578406	C	T	7578406	3	4	15	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		7578406	73616804	120	4616											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62855003	62855004	+	Splice_Site	INS	-	-	A																															tggaagttcttttgtgaactINSaaaaaaaaaaaaaccagaat																								rs540207138		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr17:62855003_62855004insA	ENST00000584306.1	-	12	5235		c.e12-2		LRRC37A3_ENST00000319651.5_Splice_Site|LRRC37A3_ENST00000400877.3_Splice_Site|LRRC37A3_ENST00000339474.5_Splice_Site|LRRC37A3_ENST00000334962.5_Splice_Site	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3							integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTTGTGAACTAAAAAAAAAAA	0.351																																																	0																																										SO:0001630	splice_region_variant	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4705-2->T	17.37:g.62855014_62855014dupA			Q49A01|Q49A80|Q8NB33	Splice_Site	INS	-	e10-2	ENST00000584306.1	37	c.4705-3_4705-2	CCDS32708.1	17																																																																																			LRRC37A3	-	-	ENSG00000176809		0.351	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1		0	40	0	-	NM_199340	Intron	62855004	-1	tier1		no_errors	ENST00000319651	ensembl	human	known	74_37	splice_site_ins	11.36	39	5	INS	0.379:0.384	A	A	62855004	-	A	62855003	8	5	15	1	0	1	1	0	0	0	1	0	9028	1536	53	0	213	0	LRRC37A3	17	62855003	Splice_Site	INS	-	TCGA-IG-A3I8-01A-11D-A247-09	55276597	62855003	18340207	121	4617											
MC5R	4161	genome.wustl.edu	37	chr18	13826394	13826394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtacatacacatgttcctCctggcgcggactcacgtcaa	9	10	8	14	3	2	0	2	0	0	0	4	1	4	1	2	2	2	2	2	2	3	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr18:13826394C>T	ENST00000324750.3	+	1	852	c.630C>T	c.(628-630)ctC>ctT	p.L210L	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	210					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ACATGTTCCTCCTGGCGCGGA	0.602																																																	0													425	358	381					18																	13826394		2203	4300	6503	SO:0001819	synonymous_variant	0			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"GPCR / Class A : Melanocortin receptors"	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.630C>T	18.37:g.13826394C>T			B0YJ34|Q502V1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.L210	ENST00000324750.3	37	c.630	CCDS11868.1	18																																																																																			MC5R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176136		0.602	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC5R	HGNC	protein_coding	OTTHUMT00000254638.1	-	0	45	0	C	NM_005913		13826394	1	tier1	-	no_errors	ENST00000324750	ensembl	human	known	74_37	silent	19.05	68	16	SNP	1.000	T	T	13826394	C	T	13826394	2	4	15	1	0	0	0	0	0	0	0	1	9405	842	30	3		3	MC5R	18	13826394	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		13826394	64250854	122	4618											
TCEB3B	51224	genome.wustl.edu	37	chr18	44560933	44560933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctgggcacacaaggggcGtttttcctggcgagacgatt	7	10	13	11	3	0	1	0	0	0	1	2	3	2	1	2	4	0	2	2	4	1	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr18:44560933G>T	ENST00000332567.4	-	1	1055	c.703C>A	c.(703-705)Cgc>Agc	p.R235S	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	235					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CACAAGGGGCGTTTTTCCTGG	0.607																																																	0													41	43	42					18																	44560933		2203	4300	6503	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.703C>A	18.37:g.44560933G>T	ENSP00000331302:p.Arg235Ser		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R235S	ENST00000332567.4	37	c.703	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	G	0.322	-0.961284	0.02249	.	.	ENSG00000206181	ENST00000332567	T	0.06768	3.26	1.8	-3.6	0.04570	.	0.739872	0.11067	U	0.603332	T	0.04907	0.0132	L	0.38175	1.15	0.09310	N	1	B	0.29646	0.253	B	0.23419	0.046	T	0.36696	-0.9737	10	0.21540	T	0.41	.	4.5545	0.12130	0.2876:0.3307:0.3817:0.0	.	235	Q8IYF1	ELOA2_HUMAN	S	235	ENSP00000331302:R235S	ENSP00000331302:R235S	R	-	1	0	TCEB3B	42814931	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.813000	0.01226	-1.598000	0.00824	CGC	TCEB3B	-	NULL	ENSG00000206181		0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0	37	0	G	NM_016427		44560933	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.000	T	T	44560933	G	T	44560933	3	4	15	1	0	0	0	0	1	0	0	0	15729	1145	40	2	1562	2	TCEB3B	18	44560933	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	30734539	44560933	33516315	123	4619											
CDH7	1005	genome.wustl.edu	37	chr18	63430217	63430217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggaggtcccggaccaagCgcagctgggtgtggaatcag	9	5	17	10	2	1	0	1	0	0	0	2	3	2	3	2	5	2	2	2	5	2	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr18:63430217C>T	ENST00000397968.2	+	2	565	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	CDH7_ENST00000323011.3_Missense_Mutation_p.R47C|CDH7_ENST00000536984.2_Missense_Mutation_p.R47C	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	47					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R47C(1)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCGGACCAAGCGCAGCTGGGT	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											97	91	93					18																	63430217		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.139C>T	18.37:g.63430217C>T	ENSP00000381058:p.Arg47Cys		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R47C	ENST00000397968.2	37	c.139	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067204	0.76301	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.00587	6.38;6.38;6.38	5.56	5.56	0.83823	.	0.117851	0.64402	D	0.000014	T	0.02727	0.0082	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.56733	-0.7930	10	0.87932	D	0	.	19.5386	0.95266	0.0:1.0:0.0:0.0	.	47;47	F5H5X9;Q9ULB5	.;CADH7_HUMAN	C	47	ENSP00000319166:R47C;ENSP00000443030:R47C;ENSP00000381058:R47C	ENSP00000319166:R47C	R	+	1	0	CDH7	61581197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.142000	0.58044	2.610000	0.88304	0.650000	0.86243	CGC	CDH7	-	NULL	ENSG00000081138		0.478	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	48	0	C	NM_033646		63430217	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	70.37	40	95	SNP	1.000	T	T	63430217	C	T	63430217	3	4	15	1	0	0	0	0	1	0	0	0	3122	768	27	1	141	1	CDH7	18	63430217	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	18869284	63430217	14647031	124	4620											
CDH19	28513	genome.wustl.edu	37	chr18	64172263	64172263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtattagcttcttcgagcTtttccagaatgaatttcctg	9	16	7	9	1	1	2	0	1	1	1	4	3	3	2	2	0	2	3	2	0	4	7			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr18:64172263T>C	ENST00000262150.2	-	12	2397	c.2105A>G	c.(2104-2106)aAg>aGg	p.K702R		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTCTTCGAGCTTTTCCAGAAT	0.502																																																	0													144	138	140					18																	64172263		2203	4300	6503	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2105A>G	18.37:g.64172263T>C	ENSP00000262150:p.Lys702Arg		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K702R	ENST00000262150.2	37	c.2105	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	T	5.446	0.267423	0.10294	.	.	ENSG00000071991	ENST00000262150	T	0.76968	-1.06	5.19	5.19	0.71726	Cadherin, cytoplasmic domain (1);	0.049302	0.85682	D	0.000000	T	0.74137	0.3677	N	0.20483	0.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70876	-0.4753	10	0.02654	T	1	.	9.8268	0.40916	0.0:0.0771:0.0:0.9229	.	702	Q9H159	CAD19_HUMAN	R	702	ENSP00000262150:K702R	ENSP00000262150:K702R	K	-	2	0	CDH19	62323243	1.000000	0.71417	0.987000	0.45799	0.033000	0.12548	2.967000	0.49216	2.077000	0.62373	0.533000	0.62120	AAG	CDH19	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000071991		0.502	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	-	0	27	0	T	NM_021153		64172263	-1	tier1	-	no_errors	ENST00000262150	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	C	C	64172263	T	C	64172263	3	2	15	1	0	0	0	0	1	0	0	0	3111	1609	56	4	217	4	CDH19	18	64172263	Missense_Mutation	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	742046	64172263	13904985	125	4621											
CDH19	28513	genome.wustl.edu	37	chr18	64211432	64211432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacttttgctctaataccGtagtggttctggtgctcaaa	9	16	8	8	1	3	0	1	0	2	0	3	0	3	0	1	2	4	4	1	2	5	7	rs371022067		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr18:64211432G>A	ENST00000540086.1	-	7	1236	c.990C>T	c.(988-990)taC>taT	p.Y330Y	CDH19_ENST00000262150.2_Silent_p.Y330Y	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	438	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCTAATACCGTAGTGGTTCT	0.388																																																	0								G		0,4406		0,0,2203	127	114	119		990	-0.9	0	18		119	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CDH19	NM_021153.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		330/773	64211432	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.990C>T	18.37:g.64211432G>A			O15098	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y330	ENST00000540086.1	37	c.990	CCDS59325.1	18																																																																																			CDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000071991		0.388	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	-	0	43	0	G	NM_021153		64211432	-1	tier1	-	no_errors	ENST00000262150	ensembl	human	known	74_37	silent	57.14	57	76	SNP	0.029	A	A	64211432	G	A	64211432	2	1	15	1	0	0	0	0	0	0	0	1	3111	1140	40	1		1	CDH19	18	64211432	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	39169	64211432	13865816	126	4622											
DSEL	92126	genome.wustl.edu	37	chr18	65181541	65181541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggaggtaggtagtatGttgggttggacagcataact	9	13	16	3	0	0	0	0	0	0	0	0	2	0	2	0	6	2	6	0	6	4	7			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr18:65181541G>C	ENST00000310045.7	-	2	1808	c.335C>G	c.(334-336)aCa>aGa	p.T112R	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	102					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TAGGTAGTATGTTGGGTTGGA	0.423																																																	0													129	111	117					18																	65181541		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.335C>G	18.37:g.65181541G>C	ENSP00000310565:p.Thr112Arg		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.T112R	ENST00000310045.7	37	c.335	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	6.781	0.513042	0.12944	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.42900	0.96	4.79	3.01	0.34805	.	0.486738	0.20937	U	0.082990	T	0.24928	0.0605	N	0.22421	0.69	0.09310	N	1	B	0.25169	0.119	B	0.20955	0.032	T	0.17077	-1.0381	10	0.16420	T	0.52	-8.2867	9.4937	0.38976	0.2512:0.0:0.7488:0.0	.	102	Q8IZU8	DSEL_HUMAN	R	112;102	ENSP00000310565:T112R	ENSP00000310565:T112R	T	-	2	0	DSEL	63332521	0.907000	0.30839	0.001000	0.08648	0.742000	0.42306	4.419000	0.59835	0.576000	0.29452	0.561000	0.74099	ACA	DSEL	-	NULL	ENSG00000171451		0.423	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	43	0	G	NM_032160		65181541	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	11.32	94	12	SNP	0.014	C	C	65181541	G	C	65181541	3	2	15	1	0	0	0	0	1	0	0	0	4789	1377	48	5	3337	5	DSEL	18	65181541	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	970109	65181541	12895707	127	4623											
TBXA2R	6915	genome.wustl.edu	37	chr19	3600557	3600557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgaaccagggcgaggCgatcagccgtctctcctcca	7	5	14	15	5	2	0	1	0	1	0	5	3	4	0	4	4	2	0	4	4	1	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:3600557C>T	ENST00000375190.4	-	2	469	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	TBXA2R_ENST00000411851.3_Missense_Mutation_p.A26T|TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.A26T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	26					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CAGGGCGAGGCGATCAGCCGT	0.692																																																	0													20	26	24					19																	3600557		2084	4191	6275	SO:0001583	missense	0				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.76G>A	19.37:g.3600557C>T	ENSP00000364336:p.Ala26Thr		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.A26T	ENST00000375190.4	37	c.76	CCDS42467.1	19	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942703	0.34283	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.37584	1.19;1.19	4.55	4.55	0.56014	.	0.295124	0.31554	N	0.007449	T	0.13927	0.0337	N	0.17082	0.46	0.31306	N	0.687737	B;P	0.42375	0.123;0.778	B;B	0.26864	0.022;0.074	T	0.08953	-1.0697	10	0.12103	T	0.63	-35.8476	7.4669	0.27326	0.0:0.811:0.0:0.189	.	26;26	P21731;E2QRJ2	TA2R_HUMAN;.	T	26	ENSP00000393333:A26T;ENSP00000364336:A26T	ENSP00000364336:A26T	A	-	1	0	TBXA2R	3551557	0.966000	0.33281	1.000000	0.80357	0.584000	0.36387	0.478000	0.22212	2.233000	0.73108	0.305000	0.20034	GCC	TBXA2R	-	prints_Thbox_rcpt,prints_GPCR_Rhodpsn	ENSG00000006638		0.692	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	-	0	45	0	C			3600557	-1	tier1	-	no_errors	ENST00000411851	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	T	T	3600557	C	T	3600557	3	4	15	1	0	0	0	0	1	0	0	0	15710	768	27	1	1208	1	TBXA2R	19	3600557	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		3600557	55528426	128	4624											
CHAF1A	10036	genome.wustl.edu	37	chr19	4423372	4423372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaggaagaagagaaaCggttaagagaagaagagaag	23	2	15	1	1	0	5	0	0	0	5	0	10	0	7	0	3	1	1	0	3	9	1	rs573779621		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:4423372C>T	ENST00000301280.5	+	6	1389	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	430	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGAGAAACGGTTAAGAGA	0.498								Chromatin Structure																																									0													116	111	113					19																	4423372		2203	4300	6503	SO:0001583	missense	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1288C>T	19.37:g.4423372C>T	ENSP00000301280:p.Arg430Trp		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A	p.R430W	ENST00000301280.5	37	c.1288	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371332	0.61624	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.08193	3.12	4.69	4.69	0.59074	.	.	.	.	.	T	0.19485	0.0468	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01001	-1.1485	9	0.87932	D	0	-19.4484	15.1144	0.72388	0.0:1.0:0.0:0.0	.	430	Q13111	CAF1A_HUMAN	W	430	ENSP00000301280:R430W	ENSP00000301280:R430W	R	+	1	2	CHAF1A	4374372	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	3.426000	0.52778	2.318000	0.78349	0.561000	0.74099	CGG	CHAF1A	-	NULL	ENSG00000167670		0.498	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	-	0	23	0	C	NM_005483		4423372	1	tier1	-	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	T	T	4423372	C	T	4423372	3	4	15	1	0	0	0	0	1	0	0	0	3318	527	19	1	1310	1	CHAF1A	19	4423372	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	822815	4423372	54705611	129	4625											
ZNF358	140467	genome.wustl.edu	37	chr19	7584255	7584255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacccggtttctgaagacCcagagcctgatcctgaagac	10	8	11	12	1	1	6	0	3	1	3	2	7	2	7	4	2	1	1	4	2	2	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:7584255C>T	ENST00000597229.1	+	2	297	c.127C>T	c.(127-129)Cca>Tca	p.P43S	ZNF358_ENST00000394341.2_Missense_Mutation_p.P43S|CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	43					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTCTGAAGACCCAGAGCCTGA	0.587																																																	0													50	59	56					19																	7584255		2197	4299	6496	SO:0001583	missense	0			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.127C>T	19.37:g.7584255C>T	ENSP00000472305:p.Pro43Ser		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P43S	ENST00000597229.1	37	c.127	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924142	0.34002	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.06849	3.25	4.73	1.39	0.22231	.	.	.	.	.	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.16289	0.015	T	0.47394	-0.9121	9	0.14252	T	0.57	-4.8965	6.1336	0.20219	0.0:0.6599:0.1593:0.1808	.	43	Q9NW07	ZN358_HUMAN	S	43	ENSP00000377873:P43S	ENSP00000354703:P43S	P	+	1	0	ZNF358	7490255	0.000000	0.05858	0.008000	0.14137	0.659000	0.38960	0.132000	0.15891	0.667000	0.31107	0.558000	0.71614	CCA	ZNF358	-	NULL	ENSG00000198816		0.587	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1		0	32	0	C			7584255	1			no_errors	ENST00000394341	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.036	T	T	7584255	C	T	7584255	3	4	15	1	0	0	0	0	1	0	0	0	17915	623	22	3	129	3	ZNF358	19	7584255	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	3160883	7584255	51544728	130	4626											
HOOK2	29911	genome.wustl.edu	37	chr19	12874386	12874386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttcttcctgctcccGctgacttcggcttttctcaa	4	16	6	15	2	2	1	1	1	2	0	6	1	4	1	2	1	2	4	2	1	1	6	rs370952243		TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:12874386G>A	ENST00000397668.3	-	22	2039	c.1966C>T	c.(1966-1968)Cgg>Tgg	p.R656W	HOOK2_ENST00000264827.5_Missense_Mutation_p.R654W|HOOK2_ENST00000589965.1_5'Flank	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	656	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CNTRL.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCTGCTCCCGCTGACTTCGG	0.532																																																	0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	205	216	213		1960,1966	0.6	1	19		213	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense	HOOK2	NM_001100176.1,NM_013312.2	101,101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	654/718,656/720	12874386	2,13004	2203	4300	6503	SO:0001583	missense	0			AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"hook homolog 2 (Drosophila)"			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.1966C>T	19.37:g.12874386G>A	ENSP00000380785:p.Arg656Trp		O60562	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_UBA-like	p.R656W	ENST00000397668.3	37	c.1966	CCDS42508.1	19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237297	0.79800	0.0	2.33E-4	ENSG00000095066	ENST00000397668;ENST00000264827	T;T	0.21932	1.98;1.98	5.57	0.594	0.17485	.	0.125119	0.53938	D	0.000060	T	0.39036	0.1063	M	0.75085	2.285	0.29770	N	0.834816	D;D	0.71674	0.998;0.998	P;P	0.57846	0.629;0.828	T	0.50558	-0.8814	10	0.87932	D	0	-34.3832	14.6511	0.68797	0.0:0.0:0.5062:0.4938	.	654;656	Q96ED9-2;Q96ED9	.;HOOK2_HUMAN	W	656;654	ENSP00000380785:R656W;ENSP00000264827:R654W	ENSP00000264827:R654W	R	-	1	2	HOOK2	12735386	1.000000	0.71417	0.969000	0.41365	0.984000	0.73092	2.182000	0.42556	0.268000	0.21939	-0.148000	0.13756	CGG	HOOK2	-	pfam_Hook-related_fam	ENSG00000095066		0.532	HOOK2-002	KNOWN	basic|CCDS	protein_coding	HOOK2	HGNC	protein_coding	OTTHUMT00000451008.1	-	0	48	0	G	NM_013312		12874386	-1	tier1	-	no_errors	ENST00000397668	ensembl	human	known	74_37	missense	32.20	40	19	SNP	1.000	A	A	12874386	G	A	12874386	3	1	15	1	0	0	0	0	1	0	0	0	7310	1086	38	1	201	1	HOOK2	19	12874386	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	5290131	12874386	46254597	131	4627											
KLHL26	55295	genome.wustl.edu	37	chr19	18779978	18779978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaccgacgagtgggagcggGacctgcacttcccggagtcc	8	5	14	14	4	0	0	0	0	0	0	2	5	2	3	4	3	2	1	4	3	0	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:18779978G>A	ENST00000300976.4	+	3	1861	c.1771G>A	c.(1771-1773)Gac>Aac	p.D591N	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	591										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGGGAGCGGGACCTGCACTT	0.662																																																	0													27	31	30					19																	18779978		2202	4294	6496	SO:0001583	missense	0				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1771G>A	19.37:g.18779978G>A	ENSP00000300976:p.Asp591Asn		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D591N	ENST00000300976.4	37	c.1771	CCDS12384.1	19	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395422	0.83011	.	.	ENSG00000167487	ENST00000300976	T	0.66280	-0.2	4.34	4.34	0.51931	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.27053	0.805	0.80722	D	1	P	0.47841	0.901	P	0.45474	0.482	T	0.53436	-0.8439	9	.	.	.	.	15.8375	0.78811	0.0:0.0:1.0:0.0	.	591	Q53HC5	KLH26_HUMAN	N	591	ENSP00000300976:D591N	.	D	+	1	0	KLHL26	18640978	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.569000	0.98170	1.980000	0.57719	0.462000	0.41574	GAC	KLHL26	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000167487		0.662	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	HGNC	protein_coding	OTTHUMT00000465145.1	-	0	45	0	G	NM_018316		18779978	1	tier1	-	no_errors	ENST00000300976	ensembl	human	known	74_37	missense	15.22	78	14	SNP	1.000	A	A	18779978	G	A	18779978	3	1	15	1	0	0	0	0	1	0	0	0	8408	1174	41	3	1781	3	KLHL26	19	18779978	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	5905592	18779978	40349005	132	4628											
SFRS14	10147	genome.wustl.edu	37	chr19	19120669	19120669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgagcacccactgtcaGcagatgggcagggagaagag	12	4	17	8	0	1	4	1	1	0	3	1	6	1	5	1	3	2	3	1	3	1	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:19120669G>T	ENST00000601879.1	-	5	2630	c.2333C>A	c.(2332-2334)gCt>gAt	p.A778D	SUGP2_ENST00000456085.2_Missense_Mutation_p.A547D|SUGP2_ENST00000600377.1_Missense_Mutation_p.A792D|SUGP2_ENST00000337018.6_Missense_Mutation_p.A778D|SUGP2_ENST00000452918.2_Missense_Mutation_p.A778D			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	778					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCCACTGTCAGCAGATGGGCA	0.607																																																	0													73	77	76					19																	19120669		2203	4300	6503	SO:0001583	missense	0			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2333C>A	19.37:g.19120669G>T	ENSP00000472286:p.Ala778Asp		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.A778D	ENST00000601879.1	37	c.2333	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197925	0.09652	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.23	1.64	0.23874	.	0.701155	0.13343	N	0.395040	T	0.19644	0.0472	N	0.12182	0.205	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.18713	-1.0328	10	0.20519	T	0.43	-1.2491	3.9963	0.09559	0.0807:0.1378:0.4985:0.2829	.	547;778;778	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	D	778;778;778;547	ENSP00000337926:A778D;ENSP00000332373:A778D;ENSP00000389380:A778D;ENSP00000409603:A547D	ENSP00000332373:A778D	A	-	2	0	SUGP2	18981669	0.441000	0.25626	0.083000	0.20561	0.660000	0.38997	2.415000	0.44635	0.574000	0.29417	0.655000	0.94253	GCT	SUGP2	-	superfamily_Surp	ENSG00000064607		0.607	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1		0	34	0	G	NM_001017392		19120669	-1			no_errors	ENST00000337018	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.015	T	T	19120669	G	T	19120669	3	4	15	1	0	0	0	0	1	0	0	0	14215	971	34	3	939	3	SFRS14	19	19120669	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	340691	19120669	40008314	133	4629											
ZNF91	7644	genome.wustl.edu	37	chr19	23542601	23542601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatttagggttgaggatgaTataaatgctttgccacattc	11	14	9	7	0	0	2	0	2	0	0	1	3	0	3	2	2	2	2	2	2	4	7			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:23542601T>C	ENST00000300619.7	-	4	3385	c.3180A>G	c.(3178-3180)atA>atG	p.I1060M	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.I1028M	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1060					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGAGGATGATATAAATGCTT	0.368																																																	0													71	76	74					19																	23542601		2180	4285	6465	SO:0001583	missense	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3180A>G	19.37:g.23542601T>C	ENSP00000300619:p.Ile1060Met		A8K5E1|B7Z6G6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I1060M	ENST00000300619.7	37	c.3180	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	T	10.58	1.390723	0.25118	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.10288	2.89;2.89	1.31	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.25094	0.71	0.09310	N	1	D;D	0.76494	0.998;0.999	D;D	0.71656	0.935;0.974	T	0.15925	-1.0420	9	0.30854	T	0.27	.	2.7868	0.05376	0.4901:0.1778:0.0:0.3321	.	1028;1060	Q05481-2;Q05481	.;ZNF91_HUMAN	M	1060;1028	ENSP00000300619:I1060M;ENSP00000380272:I1028M	ENSP00000300619:I1060M	I	-	3	3	ZNF91	23334441	0.000000	0.05858	0.002000	0.10522	0.659000	0.38960	-7.654000	0.00032	-0.674000	0.05253	0.165000	0.16767	ATA	ZNF91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.368	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0	32	0	T	NM_003430		23542601	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	missense	46.03	34	29	SNP	0.000	C	C	23542601	T	C	23542601	3	2	15	1	0	0	0	0	1	0	0	0	18248	1396	49	4	399	4	ZNF91	19	23542601	Missense_Mutation	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	4421932	23542601	35586382	134	4630											
NUMBL	9253	genome.wustl.edu	37	chr19	41173889	41173889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgctgctgctgctgCtgctgctgttgctgttgctg	0	17	14	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:41173889C>T	ENST00000252891.4	-	10	1481	c.1314G>A	c.(1312-1314)caG>caA	p.Q438Q	NUMBL_ENST00000598779.1_Silent_p.Q397Q|NUMBL_ENST00000540131.1_Silent_p.Q397Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	438	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			gctgctgctgctgctgctgtt	0.662																																																	0													8	8	8					19																	41173889		2113	4120	6233	SO:0001819	synonymous_variant	0			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1314G>A	19.37:g.41173889C>T			Q7Z4J9	Silent	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.Q438	ENST00000252891.4	37	c.1314	CCDS12561.1	19																																																																																			NUMBL	-	pirsf_Numb/numb-like	ENSG00000105245		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2	-	0	18	0	C	NM_004756		41173889	-1	tier1	-	no_errors	ENST00000252891	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	T	T	41173889	C	T	41173889	2	4	15	1	0	0	0	0	0	0	0	1	10791	796	28	3		3	NUMBL	19	41173889	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	17631288	41173889	17955094	135	4631											
MYH14	79784	genome.wustl.edu	37	chr19	50713840	50713840	+	Frame_Shift_Del	DEL	A	A	-																															ggcggcggcgctgcgggacgAaggcgaggaggaggcggagg																										TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:50713840delA	ENST00000596571.1	+	1	218	c.218delA	c.(217-219)gaafs	p.E73fs	MYH14_ENST00000440075.2_Frame_Shift_Del_p.E73fs|MYH14_ENST00000376970.2_Frame_Shift_Del_p.E73fs|MYH14_ENST00000425460.1_Frame_Shift_Del_p.E73fs|MYH14_ENST00000601313.1_Frame_Shift_Del_p.E73fs|MYH14_ENST00000598205.1_Frame_Shift_Del_p.E73fs|MYH14_ENST00000262269.8_Frame_Shift_Del_p.E73fs			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	73					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGCGGGACGAAGGCGAGGAG	0.721																																																	0													7	12	10					19																	50713840		2092	4164	6256	SO:0001589	frameshift_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.218delA	19.37:g.50713840delA	ENSP00000472819:p.Glu73fs		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G74fs	ENST00000596571.1	37	c.218	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_N,superfamily_P-loop_NTPase	ENSG00000105357		0.721	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2		0	17	0	A	NM_024729		50713840	1	tier1		no_errors	ENST00000262269	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	1.000	-	-	50713840	A	-	50713840	7	5	15	1	0	1	0	1	0	0	0	0	10071	246	9	0	220	0	MYH14	19	50713840	Frame_Shift_Del	DEL	A	TCGA-IG-A3I8-01A-11D-A247-09	9539951	50713840	8415143	136	4632											
ZNF766	90321	genome.wustl.edu	37	chr19	52793497	52793497	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttcgccacttcaaagAatttactctggggtcaaaac	12	12	7	10	1	4	1	3	0	1	1	5	1	4	1	1	2	2	1	1	2	5	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:52793497A>G	ENST00000439461.1	+	4	496	c.453A>G	c.(451-453)agA>agG	p.R151R	ZNF766_ENST00000593612.1_Silent_p.R166R|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.R166R	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CACTTCAAAGAATTTACTCTG	0.363																																																	0													60	60	60					19																	52793497		1885	4118	6003	SO:0001819	synonymous_variant	0			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.453A>G	19.37:g.52793497A>G			B2RNE0|Q7Z326	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R166	ENST00000439461.1	37	c.498	CCDS46163.1	19																																																																																			ZNF766	-	NULL	ENSG00000196214		0.363	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF766	HGNC	protein_coding	OTTHUMT00000462764.1	-	0	17	0	A	NM_001010851		52793497	1	tier1	-	no_errors	ENST00000359102	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.000	G	G	52793497	A	G	52793497	2	3	15	1	0	0	0	0	0	0	0	1	18188	243	9	4		4	ZNF766	19	52793497	Silent	SNP	A	TCGA-IG-A3I8-01A-11D-A247-09	2079657	52793497	6335486	137	4633											
LILRB3	11025	genome.wustl.edu	37	chr19	54721222	54721222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgtcctcttccacctgtCtgtcctttgtgtccaggaat	4	15	8	14	0	2	0	0	0	2	0	6	1	6	1	6	1	0	0	6	1	1	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:54721222C>G	ENST00000391750.1	-	13	1851	c.1715G>C	c.(1714-1716)aGa>aCa	p.R572T	LILRA6_ENST00000270464.5_Missense_Mutation_p.R573T|LILRB3_ENST00000424807.1_Missense_Mutation_p.R572T|LILRA6_ENST00000440558.2_Missense_Mutation_p.R572T|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000346401.6_Missense_Mutation_p.R584T|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.R573T|LILRB3_ENST00000245620.9_Missense_Mutation_p.R573T|LILRB3_ENST00000407860.2_Missense_Mutation_p.R589T			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	572					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCCACCTGTCTGTCCTTTGT	0.592																																																	0													101	100	100					19																	54721222		2192	4300	6492	SO:0001583	missense	0			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1715G>C	19.37:g.54721222C>G	ENSP00000375630:p.Arg572Thr		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R589T	ENST00000391750.1	37	c.1766	CCDS33105.1	19	.	.	.	.	.	.	.	.	.	.	G	0.985	-0.695874	0.03279	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.00587	6.38;6.38;6.45;6.41;6.41;6.38;6.39;6.42	2.41	-4.82	0.03171	.	.	.	.	.	T	0.00271	0.0008	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B	0.12156	0.0;0.0;0.0;0.0;0.001;0.0;0.007	T	0.39231	-0.9624	9	0.23891	T	0.37	.	5.6465	0.17592	0.0:0.3451:0.3656:0.2893	.	589;572;573;584;589;572;573	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	T	572;572;584;573;589;572;573;573	ENSP00000375630:R572T;ENSP00000412771:R572T;ENSP00000345184:R584T;ENSP00000245620:R573T;ENSP00000384274:R589T;ENSP00000390120:R572T;ENSP00000270464:R573T;ENSP00000411227:R573T	ENSP00000270464:R573T	R	-	2	0	LILRB3;LILRA6	59413034	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.412000	0.07132	-2.115000	0.00831	-2.761000	0.00122	AGA	LILRB3	-	NULL	ENSG00000204577		0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	-	0	101	0	C	NM_006864		54721222	-1	tier1	-	no_errors	ENST00000407860	ensembl	human	known	74_37	missense	17.89	101	22	SNP	0.000	G	G	54721222	C	G	54721222	3	3	15	1	0	0	0	0	1	0	0	0	8821	913	32	5	188	5	LILRB3	19	54721222	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	1927725	54721222	4407761	138	4634											
ZNF582	147948	genome.wustl.edu	37	chr19	56895667	56895667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcactctaaaggccttTccacatactttgcactcata	11	12	5	13	0	3	0	2	0	1	0	4	1	4	0	2	1	3	2	2	1	4	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:56895667T>C	ENST00000301310.4	-	5	1277	c.1119A>G	c.(1117-1119)ggA>ggG	p.G373G	ZNF582_ENST00000586929.1_Silent_p.G373G	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TAAAGGCCTTTCCACATACTT	0.438																																					Ovarian(183;1887 2032 4349 30507 51343)												0													96	94	95					19																	56895667		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1119A>G	19.37:g.56895667T>C			B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G373	ENST00000301310.4	37	c.1119	CCDS33121.1	19																																																																																			ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.438	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0	26	0	T	NM_144690		56895667	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.002	C	C	56895667	T	C	56895667	2	2	15	1	0	0	0	0	0	0	0	1	18062	1770	62	4		4	ZNF582	19	56895667	Silent	SNP	T	TCGA-IG-A3I8-01A-11D-A247-09	2174445	56895667	2233316	139	4635											
PEG3	5178	genome.wustl.edu	37	chr19	57325604	57325604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctccacttctggctcGgcagcctccacttctggctc	4	10	9	18	1	2	0	0	0	2	0	6	0	4	0	4	3	2	4	4	3	0	2	rs141987198	byFrequency	TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:57325604G>A	ENST00000326441.9	-	10	4569	c.4206C>T	c.(4204-4206)gcC>gcT	p.A1402A	PEG3_ENST00000598410.1_Silent_p.A1278A|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.A1276A|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.A1402A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1402	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A1402A(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTGGCTCGGCAGCCTCCA	0.577																																																	2	Substitution - coding silent(2)	lung(2)						G	,,,,,,,	1,4345		0,1,2172	43	46	45		4206,3828,4206,3834,,,4206,	-7.2	0	19	dbSNP_134	45	1,8413		0,1,4206	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,intron,coding-synonymous,intron	PEG3,ZIM2	NM_001146184.1,NM_001146185.1,NM_001146186.1,NM_001146187.1,NM_001146326.1,NM_001146327.1,NM_006210.2,NM_015363.4	,,,,,,,	0,2,6378	AA,AG,GG		0.0119,0.023,0.0157	,,,,,,,	1402/1589,1276/1463,1402/1589,1278/1465,,,1402/1589,	57325604	2,12758	2173	4207	6380	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4206C>T	19.37:g.57325604G>A			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A1402	ENST00000326441.9	37	c.4206	CCDS12948.1	19																																																																																			PEG3	-	NULL	ENSG00000198300		0.577	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	55	0	G			57325604	-1	tier1	rs141987198	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	19.12	55	13	SNP	0.011	A	A	57325604	G	A	57325604	2	1	15	1	0	0	0	0	0	0	0	1	11759	1103	39	1		1	PEG3	19	57325604	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	429937	57325604	1803379	140	4636											
MZF1	7593	genome.wustl.edu	37	chr19	59074805	59074805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccatgccgaggtcccagGggacgtggaggtgagggctt	7	6	18	10	2	0	1	0	1	0	0	1	4	1	3	3	6	2	1	3	6	0	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr19:59074805G>T	ENST00000215057.2	-	6	1399	c.839C>A	c.(838-840)cCc>cAc	p.P280H	MZF1_ENST00000599369.1_Missense_Mutation_p.P280H|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_Intron	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	280					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GAGGTCCCAGGGGACGTGGAG	0.607																																																	0													49	45	46					19																	59074805		2200	4298	6498	SO:0001583	missense	0			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.839C>A	19.37:g.59074805G>T	ENSP00000215057:p.Pro280His		M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P280H	ENST00000215057.2	37	c.839	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	17.31	3.357587	0.61293	.	.	ENSG00000099326	ENST00000215057	T	0.07114	3.22	3.76	3.76	0.43208	.	0.000000	0.38778	N	0.001570	T	0.05593	0.0147	N	0.08118	0	0.29939	N	0.821225	D	0.58620	0.983	P	0.47075	0.536	T	0.23691	-1.0181	10	0.22706	T	0.39	-15.9587	11.3815	0.49761	0.0:0.0:1.0:0.0	.	280	P28698	MZF1_HUMAN	H	280	ENSP00000215057:P280H	ENSP00000215057:P280H	P	-	2	0	MZF1	63766617	0.994000	0.37717	0.865000	0.33974	0.593000	0.36681	3.503000	0.53340	2.379000	0.81126	0.467000	0.42956	CCC	MZF1	-	NULL	ENSG00000099326		0.607	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	-	0	52	0	G	NM_198055		59074805	-1	tier1	-	no_errors	ENST00000215057	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.764	T	T	59074805	G	T	59074805	3	4	15	1	0	0	0	0	1	0	0	0	10146	1232	43	3	1369	3	MZF1	19	59074805	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	1749201	59074805	54178	141	4637											
ACSS1	84532	genome.wustl.edu	37	chr20	24993469	24993469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcgtcctcaatctctgcGgtccccagccggtggccact	5	9	11	16	3	2	0	1	0	1	0	5	0	4	0	5	4	2	0	5	4	1	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr20:24993469G>A	ENST00000323482.4	-	11	1765	c.1686C>T	c.(1684-1686)acC>acT	p.T562T	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Silent_p.T479T|ACSS1_ENST00000542618.1_Silent_p.T441T	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	562					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAATCTCTGCGGTCCCCAGCC	0.597																																																	0													124	108	113					20																	24993469		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1686C>T	20.37:g.24993469G>A			B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	p.T562	ENST00000323482.4	37	c.1686	CCDS13167.1	20																																																																																			ACSS1	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	ENSG00000154930		0.597	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	-	0	48	0	G	NM_032501		24993469	-1	tier1	-	no_errors	ENST00000323482	ensembl	human	known	74_37	silent	10.00	117	13	SNP	0.035	A	A	24993469	G	A	24993469	2	1	15	1	0	0	0	0	0	0	0	1	188	1103	39	1		1	ACSS1	20	24993469	Silent	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09		24993469	38032051	142	4638											
NINL	22981	genome.wustl.edu	37	chr20	25434171	25434171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaagaggcggctttgtttCtcggcgcctcgctgcttctc	3	13	11	14	4	2	1	0	0	2	1	6	1	3	1	2	3	1	4	2	3	1	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr20:25434171C>T	ENST00000278886.6	-	24	4138	c.4065G>A	c.(4063-4065)gaG>gaA	p.E1355E	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.E1006E	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1355					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCTTTGTTTCTCGGCGCCTC	0.547																																																	0													81	82	82					20																	25434171		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.4065G>A	20.37:g.25434171C>T			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E1355	ENST00000278886.6	37	c.4065	CCDS33452.1	20																																																																																			NINL	-	NULL	ENSG00000101004		0.547	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	-	0	36	0	C	NM_025176		25434171	-1	tier1	-	no_errors	ENST00000278886	ensembl	human	known	74_37	silent	21.88	75	21	SNP	0.998	T	T	25434171	C	T	25434171	2	4	15	1	0	0	0	0	0	0	0	1	10459	912	32	3		3	NINL	20	25434171	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	440702	25434171	37591349	143	4639											
NINL	22981	genome.wustl.edu	37	chr20	25434213	25434213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggtggcctgaagtgctctCaccaggtgggcgttctccac	5	10	13	13	2	2	1	1	1	2	0	5	1	2	1	3	4	1	2	3	4	1	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr20:25434213C>T	ENST00000278886.6	-	24	4096	c.4023G>A	c.(4021-4023)gtG>gtA	p.V1341V	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.V992V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1341					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GAAGTGCTCTCACCAGGTGGG	0.552																																																	0													91	83	86					20																	25434213		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.4023G>A	20.37:g.25434213C>T			A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V1341	ENST00000278886.6	37	c.4023	CCDS33452.1	20																																																																																			NINL	-	NULL	ENSG00000101004		0.552	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	-	0	36	0	C	NM_025176		25434213	-1	tier1	-	no_errors	ENST00000278886	ensembl	human	known	74_37	silent	19.10	72	17	SNP	1.000	T	T	25434213	C	T	25434213	2	4	15	1	0	0	0	0	0	0	0	1	10459	813	29	3		3	NINL	20	25434213	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	42	25434213	37591307	144	4640											
SNTA1	6640	genome.wustl.edu	37	chr20	31997973	31997973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacaccctcggcggccCggtgacagccatccacaagc	8	4	10	19	3	0	1	0	1	0	0	2	1	1	1	5	3	3	1	5	3	1	0			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr20:31997973C>T	ENST00000217381.2	-	6	1476	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	402					muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTCGGCGGCCCGGTGACAGCC	0.632																																																	0																																										SO:0001583	missense	0			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.1205G>A	20.37:g.31997973C>T	ENSP00000217381:p.Arg402Gln		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R402Q	ENST00000217381.2	37	c.1205	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	c	10.95	1.496340	0.26861	.	.	ENSG00000101400	ENST00000217381	T	0.71698	-0.59	5.01	3.85	0.44370	Pleckstrin homology domain (1);	0.175453	0.46442	D	0.000296	T	0.29158	0.0725	N	0.01048	-1.04	0.27315	N	0.95722	P;P	0.48089	0.684;0.905	B;B	0.26693	0.05;0.072	T	0.30001	-0.9993	10	0.13108	T	0.6	-8.656	11.9282	0.52831	0.0:0.8504:0.0:0.1496	.	327;402	B4DX40;Q13424	.;SNTA1_HUMAN	Q	402	ENSP00000217381:R402Q	ENSP00000217381:R402Q	R	-	2	0	SNTA1	31461634	0.156000	0.22821	1.000000	0.80357	0.997000	0.91878	0.107000	0.15375	2.331000	0.79229	0.558000	0.71614	CGG	SNTA1	-	smart_Pleckstrin_homology	ENSG00000101400		0.632	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	-	0	46	0	C	NM_003098		31997973	-1	tier1	-	no_errors	ENST00000217381	ensembl	human	known	74_37	missense	20.00	95	24	SNP	0.999	T	T	31997973	C	T	31997973	3	4	15	1	0	0	0	0	1	0	0	0	14916	652	23	1	324	1	SNTA1	20	31997973	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	6563760	31997973	31027547	145	4641											
ARVCF	421	genome.wustl.edu	37	chr22	19958768	19958768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctagacccaggaatcaaCgggctgaggcttagcgtccc	11	6	12	12	2	1	2	1	1	0	1	2	3	2	3	2	3	3	3	2	3	5	2	rs72554700	byFrequency	TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chr22:19958768C>T	ENST00000263207.3	-	19	3163	c.2872G>A	c.(2872-2874)Gtt>Att	p.V958I	ARVCF_ENST00000344269.3_Missense_Mutation_p.V895I|ARVCF_ENST00000406522.1_Missense_Mutation_p.V889I|ARVCF_ENST00000401994.1_Missense_Mutation_p.V895I|ARVCF_ENST00000406259.1_Missense_Mutation_p.V952I	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	958					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGGAATCAACGGGCTGAGGC	0.652											OREG0026306	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0									ILE/VAL	1,4331		0,1,2165	188	117	141		2872	4.1	1	22	dbSNP_130	141	5,8499		0,5,4247	yes	missense	ARVCF	NM_001670.2	29	0,6,6412	TT,TC,CC		0.0588,0.0231,0.0467	possibly-damaging	958/963	19958768	6,12830	2166	4252	6418	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2872G>A	22.37:g.19958768C>T	ENSP00000263207:p.Val958Ile	737	B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V958I	ENST00000263207.3	37	c.2872	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	c	24.4	4.523151	0.85600	2.31E-4	5.88E-4	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.70986	-0.53;-0.49;-0.49;-0.48;-0.53	4.07	4.07	0.47477	.	1.580110	0.04919	U	0.454665	T	0.67795	0.2931	L	0.48642	1.525	0.47407	D	0.999415	D	0.58268	0.982	B	0.41374	0.355	T	0.64351	-0.6428	9	.	.	.	-16.5562	13.6559	0.62338	0.0:1.0:0.0:0.0	.	958	O00192	ARVC_HUMAN	I	958;895;895;889;952	ENSP00000263207:V958I;ENSP00000342042:V895I;ENSP00000384341:V895I;ENSP00000384732:V889I;ENSP00000385444:V952I	.	V	-	1	0	ARVCF	18338768	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	3.273000	0.51623	2.288000	0.76882	0.450000	0.29827	GTT	ARVCF	-	NULL	ENSG00000099889		0.652	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0	31	0	C	NM_001670		19958768	-1	tier1	rs72554700	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	18.37	40	9	SNP	0.998	T	T	19958768	C	T	19958768	3	4	15	1	0	0	0	0	1	0	0	0	1004	536	19	1	20	1	ARVCF	22	19958768	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		19958768	31345798	146	4642											
PCYT1B	9468	genome.wustl.edu	37	chrX	24625955	24625955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcaaatattccatcggCgtatactctgacaggcctgt	10	11	10	10	2	2	1	1	1	1	0	4	2	3	1	2	3	1	1	2	3	4	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:24625955C>T	ENST00000379144.2	-	3	371	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	PCYT1B_ENST00000356768.4_Missense_Mutation_p.A81T|PCYT1B_ENST00000379145.1_Missense_Mutation_p.A63T	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	81					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTCCATCGGCGTATACTCTG	0.448																																																	0													78	71	73					X																	24625955		2203	4300	6503	SO:0001583	missense	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.241G>A	X.37:g.24625955C>T	ENSP00000368439:p.Ala81Thr		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.A81T	ENST00000379144.2	37	c.241	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047036	0.93740	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.96802	-4.13;-4.13;-4.13	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.103999	0.64402	D	0.000004	D	0.97158	0.9071	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.958;0.958	D	0.98087	1.0407	10	0.72032	D	0.01	0.001	17.8268	0.88668	0.0:1.0:0.0:0.0	.	81;63;81	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	T	63;81;81	ENSP00000368440:A63T;ENSP00000368439:A81T;ENSP00000349211:A81T	ENSP00000349211:A81T	A	-	1	0	PCYT1B	24535876	1.000000	0.71417	0.703000	0.30354	0.982000	0.71751	7.320000	0.79064	2.398000	0.81561	0.544000	0.68410	GCC	PCYT1B	-	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	ENSG00000102230		0.448	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1	-	0	22	0	C	NM_004845		24625955	-1	tier1	-	no_errors	ENST00000379144	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T	T	24625955	C	T	24625955	3	4	15	1	0	0	0	0	1	0	0	0	11650	768	27	1	929	1	PCYT1B	23	24625955	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09		24625955	130644605	147	4643											
MAGEB6	158809	genome.wustl.edu	37	chrX	26213165	26213165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgatagatgaggtagagaGagcattgagactgagagctt	13	11	14	3	0	0	7	0	4	0	5	0	10	0	7	0	1	2	3	0	1	2	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:26213165G>C	ENST00000379034.1	+	2	1351	c.1202G>C	c.(1201-1203)aGa>aCa	p.R401T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	401										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GAGGTAGAGAGAGCATTGAGA	0.502																																																	0													118	109	112					X																	26213165		2202	4300	6502	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1202G>C	X.37:g.26213165G>C	ENSP00000368320:p.Arg401Thr		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R401T	ENST00000379034.1	37	c.1202	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548896	0.27652	.	.	ENSG00000176746	ENST00000379034	T	0.03124	4.04	3.29	-1.64	0.08318	.	0.769745	0.11298	U	0.578531	T	0.11153	0.0272	M	0.72576	2.205	0.09310	N	1	D	0.67145	0.996	P	0.61070	0.883	T	0.07597	-1.0764	10	0.72032	D	0.01	.	7.6546	0.28369	0.6203:0.0:0.3797:0.0	.	401	Q8N7X4	MAGB6_HUMAN	T	401	ENSP00000368320:R401T	ENSP00000368320:R401T	R	+	2	0	MAGEB6	26123086	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.295000	0.08298	-0.628000	0.05582	-0.197000	0.12766	AGA	MAGEB6	-	NULL	ENSG00000176746		0.502	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	-	0	71	0	G	NM_173523		26213165	1	tier1	-	no_errors	ENST00000379034	ensembl	human	known	74_37	missense	47.56	42	39	SNP	0.000	C	C	26213165	G	C	26213165	3	2	15	1	0	0	0	0	1	0	0	0	9217	942	33	5	1204	5	MAGEB6	23	26213165	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	1587210	26213165	129057395	148	4644											
CXorf59	286464	genome.wustl.edu	37	chrX	36162682	36162682	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgttttgtttctaggtgtGtctgagggtgtttccaaagg	7	16	13	5	1	2	1	0	1	2	0	3	1	3	1	1	3	1	3	1	3	3	5			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:36162682G>C	ENST00000313548.4	+	11	1451	c.1265G>C	c.(1264-1266)tGt>tCt	p.C422S		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	422	CH.					integral component of membrane (GO:0016021)											ttctaggtgtgtctgagggtg	0.428																																																	0													105	113	110					X																	36162682		2202	4300	6502	SO:0001583	missense	0			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.1265G>C	X.37:g.36162682G>C	ENSP00000324767:p.Cys422Ser			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.C422S	ENST00000313548.4	37	c.1265	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.944876	0.00479	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	0.559	-0.353	0.12594	.	6.375000	0.01639	U	0.023979	T	0.18045	0.0433	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.16289	0.015	T	0.09122	-1.0689	8	0.19147	T	0.46	.	.	.	.	.	422	Q8N9S7	CX059_HUMAN	S	422	.	ENSP00000324767:C422S	C	+	2	0	CXorf59	36072603	0.351000	0.24887	0.052000	0.19188	0.050000	0.14768	-0.265000	0.08644	-0.263000	0.09378	-0.260000	0.10688	TGT	CHDC2	-	NULL	ENSG00000176034		0.428	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	HGNC	protein_coding			0	25	0	G	NM_173695		36162682	1			no_errors	ENST00000313548	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.050	C	C	36162682	G	C	36162682	3	2	15	1	0	0	0	0	1	0	0	0	4124	1377	48	5	1303	5	CXorf59	23	36162682	Missense_Mutation	SNP	G	TCGA-IG-A3I8-01A-11D-A247-09	9949517	36162682	119107878	149	4645											
ZC3H12B	340554	genome.wustl.edu	37	chrX	64709206	64709206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctccagagagattgcaagCcctgaattgtctcttgaaga	12	10	10	9	0	1	5	0	2	1	3	3	6	2	5	2	0	3	2	2	0	3	3			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:64709206C>A	ENST00000338957.4	+	1	592	c.525C>A	c.(523-525)agC>agA	p.S175R	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S164R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	175							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGATTGCAAGCCCTGAATTGT	0.458																																																	0													69	67	67					X																	64709206		1921	4110	6031	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.525C>A	X.37:g.64709206C>A	ENSP00000340839:p.Ser175Arg		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.S175R	ENST00000338957.4	37	c.525	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	C	6.170	0.399593	0.11696	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.23552	1.9;1.9	5.15	1.28	0.21552	.	0.164574	0.64402	D	0.000003	T	0.11153	0.0272	N	0.16478	0.41	0.49798	D	0.99982	P	0.48503	0.911	B	0.39503	0.301	T	0.24440	-1.0160	10	0.09590	T	0.72	-0.7981	7.9351	0.29925	0.0:0.5204:0.0:0.4796	.	164	Q5HYM0	ZC12B_HUMAN	R	175;164;111	ENSP00000340839:S175R;ENSP00000408077:S164R	ENSP00000218172:S111R	S	+	3	2	ZC3H12B	64625931	0.992000	0.36948	0.217000	0.23759	0.924000	0.55760	0.242000	0.18087	-0.068000	0.12953	-1.167000	0.01749	AGC	ZC3H12B	-	NULL	ENSG00000102053		0.458	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	-	0	25	0	C	XM_293334		64709206	1	tier1	-	no_errors	ENST00000338957	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.980	A	A	64709206	C	A	64709206	3	1	15	1	0	0	0	0	1	0	0	0	17610	738	26	3	527	3	ZC3H12B	23	64709206	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	28546524	64709206	90561354	150	4646											
DIAPH2	1730	genome.wustl.edu	37	chrX	96013192	96013192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaaaaagctcctttaCgaaacaaagactttaccacc	19	7	5	10	1	0	2	0	0	0	2	1	4	1	2	3	0	4	1	3	0	8	4			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:96013192C>T	ENST00000324765.8	+	4	729	c.382C>T	c.(382-384)Cga>Tga	p.R128*	DIAPH2_ENST00000355827.4_Nonsense_Mutation_p.R128*|DIAPH2_ENST00000373054.4_Nonsense_Mutation_p.R117*|DIAPH2_ENST00000373049.4_Nonsense_Mutation_p.R128*|DIAPH2_ENST00000373061.3_Nonsense_Mutation_p.R128*			O60879	DIAP2_HUMAN	diaphanous-related formin 2	128	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AGCTCCTTTACGAAACAAAGA	0.388																																																	0													114	92	100					X																	96013192		2203	4300	6503	SO:0001587	stop_gained	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.382C>T	X.37:g.96013192C>T	ENSP00000321348:p.Arg128*		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Nonsense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.R128*	ENST00000324765.8	37	c.382	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.194227	0.99096	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	.	.	.	5.73	4.85	0.62838	.	0.000000	0.49305	D	0.000141	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	13.422	0.61003	0.2842:0.7158:0.0:0.0	.	.	.	.	X	128;117;128;128;128;128	.	ENSP00000321348:R128X	R	+	1	2	DIAPH2	95899848	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.637000	0.54324	1.144000	0.42321	0.600000	0.82982	CGA	DIAPH2	-	pfam_GTPase-bd,superfamily_ARM-type_fold	ENSG00000147202		0.388	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0	33	0	C	NM_006729, NM_007309		96013192	1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	T	T	96013192	C	T	96013192	4	4	15	1	0	0	0	0	0	1	0	0	4533	528	19	1	396	1	DIAPH2	23	96013192	Nonsense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	31303986	96013192	59257368	151	4647											
TRPC5	7224	genome.wustl.edu	37	chrX	111195502	111195502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctcctgaagggcctgCttcacagtggcatagtcccc	7	9	10	15	0	2	1	2	1	0	0	4	1	4	1	5	2	2	2	5	2	2	2			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:111195502C>A	ENST00000262839.2	-	2	1065	c.147G>T	c.(145-147)aaG>aaT	p.K49N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	49					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGGGCCTGCTTCACAGTGG	0.547																																																	0													112	89	96					X																	111195502		2203	4300	6503	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.147G>T	X.37:g.111195502C>A	ENSP00000262839:p.Lys49Asn		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.K49N	ENST00000262839.2	37	c.147	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415164	0.62511	.	.	ENSG00000072315	ENST00000262839	T	0.69040	-0.37	5.63	2.9	0.33743	Ankyrin repeat-containing domain (3);	0.046199	0.85682	D	0.000000	T	0.69540	0.3122	M	0.67625	2.065	0.50467	D	0.999875	P;P	0.38148	0.62;0.62	P;P	0.47705	0.555;0.513	T	0.68823	-0.5307	10	0.87932	D	0	-13.7977	7.6608	0.28402	0.0:0.574:0.0:0.426	.	50;49	Q59G51;Q9UL62	.;TRPC5_HUMAN	N	49	ENSP00000262839:K49N	ENSP00000262839:K49N	K	-	3	2	TRPC5	111082158	0.995000	0.38212	1.000000	0.80357	0.973000	0.67179	0.427000	0.21379	0.548000	0.28955	0.600000	0.82982	AAG	TRPC5	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000072315		0.547	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	-	0	14	0	C	NM_012471		111195502	-1	tier1	-	no_errors	ENST00000262839	ensembl	human	known	74_37	missense	62.96	10	17	SNP	1.000	A	A	111195502	C	A	111195502	3	1	15	1	0	0	0	0	1	0	0	0	16630	796	28	3	2814	3	TRPC5	23	111195502	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	15182310	111195502	44075058	152	4648											
UPF3B	65109	genome.wustl.edu	37	chrX	118975734	118975734	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctcaaaagtggggttgtCtttttagctacataaatgta	13	14	9	5	0	2	0	1	0	1	0	2	0	2	0	0	2	3	4	0	2	8	7			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:118975734C>T	ENST00000276201.2	-	6	657	c.588G>A	c.(586-588)aaG>aaA	p.K196K	UPF3B_ENST00000345865.2_Silent_p.K196K|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	196	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GTGGGGTTGTCTTTTTAGCTA	0.348																																																	0													134	140	138					X																	118975734		2202	4300	6502	SO:0001819	synonymous_variant	0			AF318576	CCDS14587.1, CCDS14588.1	Xq25-q26	2014-01-31			ENSG00000125351	ENSG00000125351			20439	protein-coding gene	gene with protein product		300298	"mental retardation, X-linked 62"	MRX62		11113196, 11163187, 19238151	Standard	NM_023010		Approved	RENT3B, UPF3X, HUPF3B	uc004erz.2	Q9BZI7	OTTHUMG00000022282	ENST00000276201.2:c.588G>A	X.37:g.118975734C>T			D3DWI3|D3DWI4|Q0VAK8|Q9H1J0	Silent	SNP	pfam_Nonsense_mediated_decay_UPF3	p.K196	ENST00000276201.2	37	c.588	CCDS14588.1	X																																																																																			UPF3B	-	pfam_Nonsense_mediated_decay_UPF3	ENSG00000125351		0.348	UPF3B-001	KNOWN	basic|CCDS	protein_coding	UPF3B	HGNC	protein_coding	OTTHUMT00000058068.1	-	0	39	0	C			118975734	-1	tier1	-	no_errors	ENST00000276201	ensembl	human	known	74_37	silent	8.70	63	6	SNP	1.000	T	T	118975734	C	T	118975734	2	4	15	1	0	0	0	0	0	0	0	1	17055	912	32	3		3	UPF3B	23	118975734	Silent	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	7780232	118975734	36294826	153	4649											
GLUD2	2747	genome.wustl.edu	37	chrX	120182347	120182347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatccatggacgcatctCtgctactggccgtggtgtct	6	11	13	11	2	2	0	0	0	2	0	4	2	3	2	2	4	2	2	2	4	2	1			TCGA-IG-A3I8-01A-11D-A247-09	TCGA-IG-A3I8-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ce0db90-1984-4605-9bb4-14e8d0f60458	f4d061b0-d3da-4573-9af1-b6b1e0b582d5	g.chrX:120182347C>A	ENST00000328078.1	+	1	886	c.809C>A	c.(808-810)tCt>tAt	p.S270Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	270					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GGACGCATCTCTGCTACTGGC	0.458																																																	0													124	95	105					X																	120182347		2203	4300	6503	SO:0001583	missense	0			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.809C>A	X.37:g.120182347C>A	ENSP00000327589:p.Ser270Tyr		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.S270Y	ENST00000328078.1	37	c.809	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845192	0.51164	.	.	ENSG00000182890	ENST00000328078	D	0.95238	-3.65	2.33	1.44	0.22558	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.74258	2.255	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.93951	0.7232	10	0.87932	D	0	-0.511	6.9006	0.24281	0.0:0.8432:0.0:0.1568	.	270	P49448	DHE4_HUMAN	Y	270	ENSP00000327589:S270Y	ENSP00000327589:S270Y	S	+	2	0	GLUD2	120010028	1.000000	0.71417	0.004000	0.12327	0.932000	0.56968	3.696000	0.54757	0.292000	0.22492	0.466000	0.42574	TCT	GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	ENSG00000182890		0.458	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	-	0	103	0	C	NM_012084		120182347	1	tier1	-	no_errors	ENST00000328078	ensembl	human	known	74_37	missense	15.32	105	19	SNP	0.995	A	A	120182347	C	A	120182347	3	1	15	1	0	0	0	0	1	0	0	0	6503	913	32	3	811	3	GLUD2	23	120182347	Missense_Mutation	SNP	C	TCGA-IG-A3I8-01A-11D-A247-09	1206613	120182347	35088213	154	4650											
DVL1	1855	genome.wustl.edu	37	chr1	1275451	1275451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccgggctcgatgcggccGtcagcggccacagccccgcc	4	4	14	19	7	1	0	1	0	0	0	3	1	1	0	6	3	3	1	6	3	0	0	rs560603838		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:1275451G>A	ENST00000378888.5	-	8	1160	c.876C>T	c.(874-876)gaC>gaT	p.D292D	DVL1_ENST00000378891.5_Silent_p.D292D			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	292	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGATGCGGCCGTCAGCGGCCA	0.647													g|||	1	0.000199681	8e-04	0	5008	,	,		9382	0		0	False		,,,				2504	0																0													40	44	43					1																	1275451		2201	4299	6500	SO:0001819	synonymous_variant	0			AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"Dishevelled homologs"	3084	protein-coding gene	gene with protein product		601365	"dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)"			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.876C>T	1.37:g.1275451G>A			Q5TA33|Q5TA35	Silent	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam	p.D292	ENST00000378888.5	37	c.876		1																																																																																			DVL1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107404		0.647	DVL1-004	KNOWN	basic|appris_principal	protein_coding	DVL1	HGNC	protein_coding	OTTHUMT00000008490.1	-	0	17	0	G	NM_004421		1275451	-1	tier1	-	no_errors	ENST00000378888	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.581	A	A	1275451	G	A	1275451	2	1	16	1	0	0	0	0	0	0	0	1	4849	1136	40	1		1	DVL1	1	1275451	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		1275451	247975170	1	4651											
EPHA10	284656	genome.wustl.edu	37	chr1	38185713	38185713	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcgggagcggcccatagCgctgggctccggccactctg	4	7	15	15	4	2	0	0	0	2	0	4	1	3	1	3	4	2	2	3	4	1	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:38185713C>A	ENST00000373048.4	-	14	2429	c.2430G>T	c.(2428-2430)gcG>gcT	p.A810A	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000427468.2_Silent_p.A810A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Silent_p.A305A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	810	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGCCCATAGCGCTGGGCTCC	0.632																																																	0													33	37	36					1																	38185713		2180	4285	6465	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2430G>T	1.37:g.38185713C>A			A4FU89|J3KPB5|Q6NW42	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.A810	ENST00000373048.4	37	c.2430	CCDS41305.1	1																																																																																			EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183317		0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0	27	0	C	NM_173641		38185713	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.331	A	A	38185713	C	A	38185713	2	1	16	1	0	0	0	0	0	0	0	1	5182	755	27	2		2	EPHA10	1	38185713	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	36910262	38185713	211064908	2	4652											
KIAA0467	23334	genome.wustl.edu	37	chr1	43907451	43907451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcactggtcacctcaatGgctggagacaccagtgtccg	9	7	11	14	2	2	1	2	0	0	1	3	2	3	1	4	3	0	2	4	3	1	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:43907451G>T	ENST00000562955.1	+	54	7533	c.7533G>T	c.(7531-7533)atG>atT	p.M2511I	SZT2_ENST00000372442.1_Missense_Mutation_p.M1669I	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2568					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCACCTCAATGGCTGGAGACA	0.527																																																	0													108	89	95					1																	43907451		2203	4300	6503	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.7533G>T	1.37:g.43907451G>T	ENSP00000457168:p.Met2511Ile		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.M2511I	ENST00000562955.1	37	c.7533	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	g	14.92	2.678053	0.47886	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.2	5.2	0.72013	.	0.062180	0.64402	D	0.000003	T	0.32496	0.0831	N	0.14661	0.345	0.31367	N	0.680602	B	0.21225	0.053	B	0.21708	0.036	T	0.31752	-0.9932	9	0.37606	T	0.19	.	14.0839	0.64942	0.0748:0.0:0.9252:0.0	.	2511	Q5T011-5	.	I	1669	.	ENSP00000361519:M1669I	M	+	3	0	SZT2	43680038	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.910000	0.75741	2.412000	0.81896	0.651000	0.88453	ATG	SZT2	-	NULL	ENSG00000198198		0.527	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3		0	37	0	G	NM_015284		43907451	1			no_errors	ENST00000562955	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	T	T	43907451	G	T	43907451	3	4	16	1	0	0	0	0	1	0	0	0	8205	1348	47	3	5157	3	KIAA0467	1	43907451	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	5721738	43907451	205343170	3	4653											
PTCH2	8643	genome.wustl.edu	37	chr1	45294908	45294908	+	Frame_Shift_Del	DEL	A	A	-																															ccaccgccagggccaccagcAgtaccccggcaaggcccacg																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:45294908delA	ENST00000372192.3	-	10	1422	c.1292delT	c.(1291-1293)ctgfs	p.L432fs	PTCH2_ENST00000447098.2_Frame_Shift_Del_p.L432fs	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	432	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCCACCAGCAGTACCCCGGC	0.667									Basal Cell Nevus syndrome																																								0													28	30	29					1																	45294908		2203	4299	6502	SO:0001589	frameshift_variant	0	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"patched (Drosophila) homolog 2", "patched homolog 2 (Drosophila)"			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1292delT	1.37:g.45294908delA	ENSP00000361266:p.Leu432fs		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L431fs	ENST00000372192.3	37	c.1292	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	ENSG00000117425		0.667	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4		0	25	0	A	NM_003738		45294908	-1	tier1		no_errors	ENST00000372192	ensembl	human	known	74_37	frame_shift_del	31.58	13	6	DEL	1.000	-	-	45294908	A	-	45294908	7	5	16	1	0	1	0	1	0	0	0	0	12773	188	7	0	2391	0	PTCH2	1	45294908	Frame_Shift_Del	DEL	A	TCGA-IG-A3QL-01A-11D-A247-09	1387457	45294908	203955713	4	4654											
PRDX1	5052	genome.wustl.edu	37	chr1	45980307	45980307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcatcaatgataaaaaggCccctgggaaaagagatgaaa	19	7	9	6	0	2	3	2	2	0	1	2	5	2	4	2	2	0	0	2	2	8	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:45980307C>T	ENST00000262746.1	-	5	725	c.386G>A	c.(385-387)gGc>gAc	p.G129D	PRDX1_ENST00000483583.1_5'Flank|PRDX1_ENST00000319248.8_Missense_Mutation_p.G129D|PRDX1_ENST00000372079.1_Missense_Mutation_p.G27D	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GATAAAAAGGCCCCTGGGAAA	0.453																																																	0													86	86	86					1																	45980307		2203	4300	6503	SO:0001583	missense	0			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.386G>A	1.37:g.45980307C>T	ENSP00000262746:p.Gly129Asp		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.G129D	ENST00000262746.1	37	c.386	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.425062	0.96131	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079;ENST00000447184;ENST00000424390	T;T;T;T;T	0.30714	1.52;1.52;2.46;1.52;1.52	5.93	5.93	0.95920	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79981	-0.1574	10	0.87932	D	0	-14.8522	20.3495	0.98807	0.0:1.0:0.0:0.0	.	129	Q06830	PRDX1_HUMAN	D	129;129;27;129;129	ENSP00000262746:G129D;ENSP00000361152:G129D;ENSP00000361150:G27D;ENSP00000407034:G129D;ENSP00000389047:G129D	ENSP00000262746:G129D	G	-	2	0	PRDX1	45752894	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.536000	0.82023	2.814000	0.96858	0.591000	0.81541	GGC	PRDX1	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117450		0.453	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	-	0	19	0	C	NM_181697		45980307	-1	tier1	-	no_errors	ENST00000262746	ensembl	human	known	74_37	missense	42.11	11	8	SNP	1.000	T	T	45980307	C	T	45980307	3	4	16	1	0	0	0	0	1	0	0	0	12506	739	26	3	221	3	PRDX1	1	45980307	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	685399	45980307	203270314	5	4655											
SEMA6C	10500	genome.wustl.edu	37	chr1	151109548	151109548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggctacgcgggagaactgCacctaggggaggagagtgga	10	4	19	8	3	0	2	0	0	0	2	0	6	0	4	1	6	3	2	1	6	3	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:151109548C>T	ENST00000341697.3	-	11	2450	c.759G>A	c.(757-759)gtG>gtA	p.V253V				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	253	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGAGAACTGCACCTAGGGGA	0.597																																																	0													51	50	50					1																	151109548		2203	4298	6501	SO:0001819	synonymous_variant	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.759G>A	1.37:g.151109548C>T			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.V253	ENST00000341697.3	37	c.759	CCDS984.1	1																																																																																			SEMA6C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000143434		0.597	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	-	0	31	0	C	NM_030913		151109548	-1	tier1	-	no_errors	ENST00000368913	ensembl	human	known	74_37	silent	26.87	49	18	SNP	1.000	T	T	151109548	C	T	151109548	2	4	16	1	0	0	0	0	0	0	0	1	14086	697	25	3		3	SEMA6C	1	151109548	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	105129241	151109548	98141073	6	4656											
FLG	2312	genome.wustl.edu	37	chr1	152283351	152283351	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacagcctgtccatgagaGgaagactctgtgtgatgagt	11	9	13	8	0	1	4	0	3	1	2	2	7	2	5	2	1	1	0	2	1	1	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:152283351G>T	ENST00000368799.1	-	3	4046	c.4011C>A	c.(4009-4011)tcC>tcA	p.S1337S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1337	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGAGAGGAAGACTCTG	0.547									Ichthyosis																																								0													320	309	313					1																	152283351		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4011C>A	1.37:g.152283351G>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1337	ENST00000368799.1	37	c.4011	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.547	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	121	0	G	NM_002016		152283351	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	19.34	246	59	SNP	0.000	T	T	152283351	G	T	152283351	2	4	16	1	0	0	0	0	0	0	0	1	5944	987	35	3		3	FLG	1	152283351	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	1173803	152283351	96967270	7	4657											
ETV3	2117	genome.wustl.edu	37	chr1	157094737	157094737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggtcatcattccagcGccgcttcaaccgaagcttgg	8	10	10	13	3	4	0	4	0	0	0	5	1	5	0	3	2	3	2	3	2	2	4			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:157094737G>A	ENST00000368192.4	-	5	1499	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	479					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TCATTCCAGCGCCGCTTCAAC	0.572																																																	0													45	42	43					1																	157094737		692	1591	2283	SO:0001583	missense	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.1435C>T	1.37:g.157094737G>A	ENSP00000357175:p.Arg479Cys		B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R479C	ENST00000368192.4	37	c.1435	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574089	0.65765	.	.	ENSG00000117036	ENST00000368192	T	0.22539	1.95	4.23	4.23	0.50019	.	0.158529	0.29980	N	0.010705	T	0.22282	0.0537	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	T	0.00621	-1.1640	10	0.87932	D	0	.	11.697	0.51548	0.0:0.0:0.8226:0.1774	.	479	P41162	ETV3_HUMAN	C	479	ENSP00000357175:R479C	ENSP00000357175:R479C	R	-	1	0	ETV3	155361361	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.360000	0.66086	2.649000	0.89929	0.650000	0.86243	CGC	ETV3	-	NULL	ENSG00000117036		0.572	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	HGNC	protein_coding	OTTHUMT00000082843.2	-	0	28	0	G	NM_005240		157094737	-1	tier1	-	no_errors	ENST00000368192	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	A	A	157094737	G	A	157094737	3	1	16	1	0	0	0	0	1	0	0	0	5295	1087	38	1	107	1	ETV3	1	157094737	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	4811386	157094737	92155884	8	4658											
SPTA1	6708	genome.wustl.edu	37	chr1	158612700	158612700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaggtctcggtagaattgTtttaggttggcatagtctcc	8	15	11	7	1	3	1	1	0	2	1	5	1	3	1	1	4	0	4	1	4	5	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:158612700T>C	ENST00000368147.4	-	32	4689	c.4509A>G	c.(4507-4509)aaA>aaG	p.K1503K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1503					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTAGAATTGTTTTAGGTTGG	0.493																																																	0													152	142	145					1																	158612700		1993	4172	6165	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4509A>G	1.37:g.158612700T>C			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K1503	ENST00000368147.4	37	c.4509	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.493	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	36	0	T	NM_003126		158612700	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	silent	60.38	21	32	SNP	1.000	C	C	158612700	T	C	158612700	2	2	16	1	0	0	0	0	0	0	0	1	15163	1722	60	4		4	SPTA1	1	158612700	Silent	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	1517963	158612700	90637921	9	4659											
SLC9A11	284525	genome.wustl.edu	37	chr1	173556830	173556830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttagtgaattcacagaaCgaagaggatctataatgcca	15	12	8	6	1	2	3	1	1	1	2	2	5	2	4	1	1	2	0	1	1	6	6	rs539570027		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:173556830C>T	ENST00000367714.3	-	5	919	c.497G>A	c.(496-498)cGt>cAt	p.R166H	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R64H|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	166					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.R166L(1)									ATTCACAGAACGAAGAGGATC	0.294													C|||	1	0.000199681	0	0	5008	,	,		19480	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											95	99	98					1																	173556830		2203	4299	6502	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.497G>A	1.37:g.173556830C>T	ENSP00000356687:p.Arg166His		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R166H	ENST00000367714.3	37	c.497	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	5.424	0.263449	0.10294	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06371	3.31;3.31	5.59	-0.15	0.13416	Cation/H+ exchanger (1);	0.795247	0.11302	N	0.578073	T	0.00496	0.0016	N	0.00926	-1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45249	-0.9274	10	0.22109	T	0.4	-1.7648	2.9129	0.05743	0.3107:0.1768:0.0:0.5125	.	166	Q5TAH2	S9A11_HUMAN	H	166;64	ENSP00000356687:R166H;ENSP00000445437:R64H	ENSP00000356687:R166H	R	-	2	0	SLC9A11	171823453	0.224000	0.23674	0.017000	0.16124	0.267000	0.26476	0.858000	0.27845	0.052000	0.16007	-0.423000	0.05987	CGT	SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.294	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0	26	0	C	NM_178527		173556830	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	18.75	26	6	SNP	0.021	T	T	173556830	C	T	173556830	3	4	16	1	0	0	0	0	1	0	0	0	14756	536	19	1	2973	1	SLC9A11	1	173556830	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	14944130	173556830	75693791	10	4660											
CDC73	79577	genome.wustl.edu	37	chr1	193107230	193107230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggatgaagagtgtgtgCgccttgataaagagagattg	12	10	14	5	1	0	5	0	2	0	3	1	7	1	6	2	1	1	0	2	1	3	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:193107230C>A	ENST00000367435.3	+	6	623	c.439C>A	c.(439-441)Cgc>Agc	p.R147S	MIR1278_ENST00000408753.1_RNA	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	147					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R147C(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGAGTGTGTGCGCCTTGATAA	0.363																																																	1	Substitution - Missense(1)	breast(1)											142	142	142					1																	193107230		2203	4300	6503	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"Paf1/RNA polymerase II complex component"	607393	"chromosome 1 open reading frame 28", "hyperparathyroidism 2 (with jaw tumor)", "cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)", "hyperparathyroidism 1"	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.439C>A	1.37:g.193107230C>A	ENSP00000356405:p.Arg147Ser		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.R147S	ENST00000367435.3	37	c.439	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710401	0.68730	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.85556	-2.0	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	L	0.50333	1.59	0.80722	D	1	P	0.38617	0.64	B	0.34652	0.187	T	0.83247	-0.0055	10	0.49607	T	0.09	-6.023	19.5043	0.95108	0.0:1.0:0.0:0.0	.	147	Q6P1J9	CDC73_HUMAN	S	147	ENSP00000356405:R147S	ENSP00000356405:R147S	R	+	1	0	CDC73	191373853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.452000	0.80683	2.610000	0.88304	0.591000	0.81541	CGC	CDC73	-	NULL	ENSG00000134371		0.363	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2		0	21	0	C	NM_024529		193107230	1			no_errors	ENST00000367435	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	193107230	C	A	193107230	3	1	16	1	0	0	0	0	1	0	0	0	3092	768	27	2	461	2	CDC73	1	193107230	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	19550400	193107230	56143391	11	4661											
RBBP5	5929	genome.wustl.edu	37	chr1	205069382	205069382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgattattcgatctgccGtgttaattaaaaagcaacta	13	14	6	8	2	2	1	0	1	2	0	3	2	2	1	1	0	3	2	1	0	7	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:205069382G>T	ENST00000264515.6	-	7	791	c.650C>A	c.(649-651)aCg>aAg	p.T217K	RBBP5_ENST00000367164.1_Missense_Mutation_p.T217K	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	217					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)	p.T217M(1)		cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TCGATCTGCCGTGTTAATTAA	0.378																																																	1	Substitution - Missense(1)	ovary(1)											85	75	78					1																	205069382		2203	4300	6503	SO:0001583	missense	0			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.650C>A	1.37:g.205069382G>T	ENSP00000264515:p.Thr217Lys		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T217K	ENST00000264515.6	37	c.650	CCDS30983.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.182964	0.94885	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.22336	1.96;1.96	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	M	0.78916	2.43	0.80722	D	1	D;D;D;P	0.67145	0.996;0.988;0.992;0.955	D;P;P;P	0.65233	0.933;0.89;0.807;0.559	T	0.49960	-0.8883	10	0.87932	D	0	.	19.4914	0.95050	0.0:0.0:1.0:0.0	.	90;252;217;217	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	K	217	ENSP00000264515:T217K;ENSP00000356132:T217K	ENSP00000264515:T217K	T	-	2	0	RBBP5	203336005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.554000	0.98121	2.771000	0.95319	0.563000	0.77884	ACG	RBBP5	-	smart_WD40_repeat	ENSG00000117222		0.378	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP5	HGNC	protein_coding	OTTHUMT00000090077.1		0	13	0	G	NM_005057		205069382	-1			no_errors	ENST00000264515	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	205069382	G	T	205069382	3	4	16	1	0	0	0	0	1	0	0	0	13147	1145	40	2	998	2	RBBP5	1	205069382	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	11962152	205069382	44181239	12	4662											
ZNF496	84838	genome.wustl.edu	37	chr1	247463936	247463936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accggcactggaagggccggGctttgtccttcaggtgaaag	8	8	15	10	2	1	1	1	1	0	0	2	2	2	2	3	5	0	2	3	5	2	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:247463936G>T	ENST00000294753.4	-	9	2113	c.1649C>A	c.(1648-1650)gCc>gAc	p.A550D	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.A586D	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	550					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAAGGGCCGGGCTTTGTCCTT	0.617																																																	0													70	76	74					1																	247463936		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1649C>A	1.37:g.247463936G>T	ENSP00000294753:p.Ala550Asp		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A586D	ENST00000294753.4	37	c.1757	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	G	9.236	1.037073	0.19669	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.27720	1.65;1.65	3.97	1.95	0.26073	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.903625	0.09372	N	0.811112	T	0.12263	0.0298	N	0.04994	-0.135	0.09310	N	1	P;B	0.41848	0.763;0.039	B;B	0.33521	0.165;0.018	T	0.10042	-1.0647	10	0.46703	T	0.11	-2.7732	4.6126	0.12409	0.1337:0.2233:0.643:0.0	.	586;550	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	D	550;586	ENSP00000294753:A550D;ENSP00000355454:A586D	ENSP00000294753:A550D	A	-	2	0	ZNF496	245530559	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.538000	0.23160	0.541000	0.28827	0.655000	0.94253	GCC	ZNF496	-	pfscan_Znf_C2H2	ENSG00000162714		0.617	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	19	0	G	NM_032752		247463936	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.001	T	T	247463936	G	T	247463936	3	4	16	1	0	0	0	0	1	0	0	0	17993	1203	42	3	118	3	ZNF496	1	247463936	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	42394554	247463936	1786685	13	4663											
OR2C3	81472	genome.wustl.edu	37	chr1	247695347	247695347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtggagcccaccatgctgGtggtcagaccccccagccag	7	5	13	16	1	1	1	1	0	0	1	1	2	1	2	6	3	3	1	6	3	0	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr1:247695347G>T	ENST00000366487.3	-	2	828	c.467C>A	c.(466-468)aCc>aAc	p.T156N	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CACCATGCTGGTGGTCAGACC	0.567																																																	0													49	48	48					1																	247695347		2203	4300	6503	SO:0001583	missense	0			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.467C>A	1.37:g.247695347G>T	ENSP00000355443:p.Thr156Asn		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T156N	ENST00000366487.3	37	c.467	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.299331	0.01364	.	.	ENSG00000196242	ENST00000366487	T	0.37058	1.22	3.89	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.196218	0.24688	U	0.036411	T	0.07234	0.0183	N	0.00325	-1.645	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.40040	-0.9584	10	0.02654	T	1	.	6.6281	0.22841	0.0995:0.0:0.724:0.1765	.	156	Q8N628	OR2C3_HUMAN	N	156	ENSP00000355443:T156N	ENSP00000355443:T156N	T	-	2	0	OR2C3	245761970	0.000000	0.05858	0.087000	0.20705	0.975000	0.68041	-1.445000	0.02401	0.393000	0.25203	0.650000	0.86243	ACC	OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196242		0.567	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2		0	25	0	G	NM_198074		247695347	-1			no_errors	ENST00000366487	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.001	T	T	247695347	G	T	247695347	3	4	16	1	0	0	0	0	1	0	0	0	11032	1261	44	3	499	3	OR2C3	1	247695347	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	231411	247695347	1555274	14	4664											
CAD	790	genome.wustl.edu	37	chr2	27456369	27456369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgacaccattggtatcAgccagcctcagtggagggag	9	9	12	11	0	2	1	2	1	0	0	3	3	3	3	4	3	2	1	4	3	1	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:27456369A>T	ENST00000403525.1	+	19	3136	c.2992A>T	c.(2992-2994)Agc>Tgc	p.S998C	CAD_ENST00000264705.4_Missense_Mutation_p.S1061C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGGTATCAGCCAGCCTCA	0.602																																																	0													42	44	43					2																	27456369		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2992A>T	2.37:g.27456369A>T	ENSP00000384510:p.Ser998Cys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.S1061C	ENST00000403525.1	37	c.3181		2	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884548	0.91814	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97186	-4.28;-4.28	6.17	6.17	0.99709	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.73217	2.22	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.66847	0.927;0.947	D	0.98600	1.0658	10	0.62326	D	0.03	-1.3444	15.6462	0.77055	1.0:0.0:0.0:0.0	.	998;1061	F8VPD4;P27708	.;PYR1_HUMAN	C	1061;998	ENSP00000264705:S1061C;ENSP00000384510:S998C	ENSP00000264705:S1061C	S	+	1	0	CAD	27309873	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.776000	0.75023	2.371000	0.80710	0.533000	0.62120	AGC	CAD	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0	25	0	A			27456369	1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	T	T	27456369	A	T	27456369	3	4	16	1	0	0	0	0	1	0	0	0	2572	188	7	5	3259	5	CAD	2	27456369	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09		27456369	215743004	15	4665											
MSH6	2956	genome.wustl.edu	37	chr2	48033609	48033609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcatgcatggtagaaaatGaatgtgaagaccccagccag	15	6	12	8	0	0	4	0	2	0	2	0	4	0	4	3	2	2	3	3	2	5	1	rs587779294		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:48033609G>C	ENST00000234420.5	+	9	3972	c.3820G>C	c.(3820-3822)Gaa>Caa	p.E1274Q	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.E972Q|MSH6_ENST00000540021.1_Missense_Mutation_p.E1144Q	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1274					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGTAGAAAATGAATGTGAAGA	0.388			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											54	53	53					2																	48033609		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3820G>C	2.37:g.48033609G>C	ENSP00000234420:p.Glu1274Gln		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.E1274Q	ENST00000234420.5	37	c.3820	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551509	0.65311	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.86627	-2.15;-2.15;-2.15	6.03	6.03	0.97812	DNA mismatch repair protein MutS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92257	0.7544	L	0.49256	1.55	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.988;0.995	D	0.91849	0.5490	10	0.66056	D	0.02	-22.8692	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1144;1274	B4DF41;P52701	.;MSH6_HUMAN	Q	1274;238;1144;972	ENSP00000234420:E1274Q;ENSP00000446475:E1144Q;ENSP00000438580:E972Q	ENSP00000234420:E1274Q	E	+	1	0	MSH6	47887113	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	GAA	MSH6	-	pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.388	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0	28	0	G	NM_000179		48033609	1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	60.87	9	14	SNP	1.000	C	C	48033609	G	C	48033609	3	2	16	1	0	0	0	0	1	0	0	0	9912	1291	45	5	3854	5	MSH6	2	48033609	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	20577240	48033609	195165764	16	4666											
SFXN5	94097	genome.wustl.edu	37	chr2	73247372	73247372	+	Frame_Shift_Del	DEL	G	G	-																															tgaaggtaacacttacaattGgcgtcccaaaaggaatataa																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:73247372delG	ENST00000272433.2	-	6	483	c.353delC	c.(352-354)ccafs	p.P118fs	SFXN5_ENST00000410065.1_Frame_Shift_Del_p.P118fs|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	118					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACTTACAATTGGCGTCCCAAA	0.383																																																	0													93	91	92					2																	73247372		2203	4300	6503	SO:0001589	frameshift_variant	0			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"Sideroflexins"	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.353delC	2.37:g.73247372delG	ENSP00000272433:p.Pro118fs		A8K116|Q494Y3|Q53T29	Frame_Shift_Del	DEL	pfam_Mtc,tigrfam_Mtc	p.P118fs	ENST00000272433.2	37	c.353	CCDS1922.1	2																																																																																			SFXN5	-	pfam_Mtc,tigrfam_Mtc	ENSG00000144040		0.383	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN5	HGNC	protein_coding	OTTHUMT00000251991.1		0	16	0	G	NM_144579		73247372	-1	tier1		no_errors	ENST00000272433	ensembl	human	known	74_37	frame_shift_del	25.00	12	4	DEL	1.000	-	-	73247372	G	-	73247372	7	5	16	1	0	1	0	1	0	0	0	0	14243	1348	47	0	705	0	SFXN5	2	73247372	Frame_Shift_Del	DEL	G	TCGA-IG-A3QL-01A-11D-A247-09	25213763	73247372	169952001	17	4667											
CNTNAP5	129684	genome.wustl.edu	37	chr2	124999946	124999946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggacgcaactggaaacaGtacaaacaagaagacagcat	20	3	9	9	1	0	2	0	0	0	2	0	4	0	4	0	2	5	3	0	2	6	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:124999946G>T	ENST00000431078.1	+	3	721	c.357G>T	c.(355-357)caG>caT	p.Q119H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	119	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACTGGAAACAGTACAAACAAG	0.448																																																	0													84	86	85					2																	124999946		2028	4203	6231	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.357G>T	2.37:g.124999946G>T	ENSP00000399013:p.Gln119His		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q119H	ENST00000431078.1	37	c.357	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986441	0.53934	.	.	ENSG00000155052	ENST00000431078	D	0.98249	-4.82	5.83	1.48	0.22813	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.282980	0.24788	N	0.035585	D	0.95076	0.8405	L	0.42487	1.325	0.42019	D	0.990975	B	0.11235	0.004	B	0.15052	0.012	D	0.90265	0.4303	10	0.52906	T	0.07	.	6.2201	0.20677	0.2684:0.0:0.5965:0.1352	.	119	Q8WYK1	CNTP5_HUMAN	H	119	ENSP00000399013:Q119H	ENSP00000399013:Q119H	Q	+	3	2	CNTNAP5	124716416	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.939000	0.40213	0.377000	0.24735	0.650000	0.86243	CAG	CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000155052		0.448	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	28	0	G			124999946	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	124999946	G	T	124999946	3	4	16	1	0	0	0	0	1	0	0	0	3657	1020	36	3	367	3	CNTNAP5	2	124999946	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	51752574	124999946	118199427	18	4668											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098909	178098909	+	Missense_Mutation	SNP	A	A	G																															tttctgtttttccagctcatActctttccgtcgctgactga																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:178098909A>G	ENST00000397062.3	-	2	690	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	NFE2L2_ENST00000446151.2_Missense_Mutation_p.Y30H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.Y30H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.Y30H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.Y30H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	46					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCCAGCTCATACTCTTTCCGT	0.378			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													112	103	105					2																	178098909		1849	4097	5946	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.136T>C	2.37:g.178098909A>G	ENSP00000380252:p.Tyr46His		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.Y46H	ENST00000397062.3	37	c.136	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767855	0.49680	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.78	3.3	0.37823	.	0.366945	0.32287	N	0.006320	T	0.09774	0.0240	N	0.03016	-0.435	0.30172	N	0.801217	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.0	T	0.16837	-1.0389	10	0.13470	T	0.59	.	3.6783	0.08301	0.5893:0.0:0.2417:0.169	.	30;30;30;46	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	30;46;30;30;30;30;30	ENSP00000380253:Y30H;ENSP00000380252:Y46H;ENSP00000411575:Y30H;ENSP00000391590:Y30H;ENSP00000400073:Y30H;ENSP00000412191:Y30H;ENSP00000410015:Y30H	ENSP00000380252:Y46H	Y	-	1	0	NFE2L2	177807155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.152000	0.50677	1.173000	0.42796	0.460000	0.39030	TAT	NFE2L2	-	NULL	ENSG00000116044		0.378	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0	66	0	A	NM_006164		178098909	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	21.67	47	13	SNP	1.000	G	G	178098909	A	G	178098909	3	3	16	1	0	0	0	0	1	0	0	0	10407	391	14	4	1697	4	NFE2L2	2	178098909	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	53098963	178098909	65100464	19	4669	16	2									
NFE2L2	4780	genome.wustl.edu	37	chr2	178098912	178098912	+	Missense_Mutation	SNP	C	C	T																															ctgtttttccagctcatactCtttccgtcgctgactgaagt																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:178098912C>T	ENST00000397062.3	-	2	687	c.133G>A	c.(133-135)Gag>Aag	p.E45K	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E29K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E29K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E29K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E29K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	45					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGCTCATACTCTTTCCGTCGC	0.383			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													109	100	103					2																	178098912		1845	4096	5941	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.133G>A	2.37:g.178098912C>T	ENSP00000380252:p.Glu45Lys		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E45K	ENST00000397062.3	37	c.133	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806584	0.90623	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.67	5.67	0.87782	.	0.141893	0.64402	D	0.000006	T	0.45256	0.1333	M	0.72894	2.215	0.58432	D	0.999999	D;P;P;D	0.56035	0.974;0.518;0.948;0.974	P;B;P;P	0.47981	0.563;0.129;0.526;0.563	T	0.46105	-0.9215	10	0.59425	D	0.04	.	19.7584	0.96304	0.0:1.0:0.0:0.0	.	29;29;29;45	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	29;45;29;29;29;29;29	ENSP00000380253:E29K;ENSP00000380252:E45K;ENSP00000411575:E29K;ENSP00000391590:E29K;ENSP00000400073:E29K;ENSP00000412191:E29K;ENSP00000410015:E29K	ENSP00000380252:E45K	E	-	1	0	NFE2L2	177807158	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.419000	0.80179	2.681000	0.91329	0.563000	0.77884	GAG	NFE2L2	-	NULL	ENSG00000116044		0.383	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0	65	0	C	NM_006164		178098912	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	178098912	C	T	178098912	3	4	16	1	0	0	0	0	1	0	0	0	10407	922	32	3	1700	3	NFE2L2	2	178098912	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	3	178098912	65100461	20	4670	16	2									
FSIP2	401024	genome.wustl.edu	37	chr2	186604132	186604132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctactggacctacctctCggggtcaagctgcctgtgat	7	10	11	13	1	2	1	1	1	1	0	3	2	2	2	3	3	5	2	3	3	3	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:186604132C>T	ENST00000424728.1	+	2	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L	FSIP2_ENST00000465275.1_3'UTR|AC007966.1_ENST00000421998.1_RNA|AC007966.1_ENST00000437717.1_RNA|FSIP2_ENST00000343098.5_Silent_p.L142L|AC007966.1_ENST00000427269.2_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	53										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACCTACCTCTCGGGGTCAAGC	0.473																																																	0																																										SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.159C>T	2.37:g.186604132C>T			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.L142	ENST00000424728.1	37	c.426		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.473	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	27	0	C	NM_173651		186604132	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.883	T	T	186604132	C	T	186604132	2	4	16	1	0	0	0	0	0	0	0	1	6099	871	31	1		1	FSIP2	2	186604132	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	8505220	186604132	56595241	21	4671											
UGT1A9	54600	genome.wustl.edu	37	chr2	234581034	234581034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttctcgatccttttgatAactgtggcttaattgttgcc	6	19	8	8	1	1	1	0	1	1	0	3	2	2	1	2	1	2	3	2	1	2	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:234581034A>G	ENST00000354728.4	+	1	536	c.454A>G	c.(454-456)Aac>Gac	p.N152D	UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.N152D			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	152					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TCCTTTTGATAACTGTGGCTT	0.398																																																	0													149	147	147					2																	234581034		2203	4300	6503	SO:0001583	missense	0			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"UDP glucuronosyltransferases"	12541	other	complex locus constituent		606434	"UDP glycosyltransferase 1 family, polypeptide A9"			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.454A>G	2.37:g.234581034A>G	ENSP00000346768:p.Asn152Asp		B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.N152D	ENST00000354728.4	37	c.454	CCDS2505.1	2	.	.	.	.	.	.	.	.	.	.	A	5.998	0.367987	0.11352	.	.	ENSG00000241119	ENST00000354728	T	0.59502	0.26	3.41	-1.46	0.08800	.	.	.	.	.	T	0.30947	0.0781	N	0.11154	0.105	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.19778	-1.0295	9	0.87932	D	0	.	1.8048	0.03078	0.3247:0.289:0.2776:0.1087	.	152;152	Q5DSZ5;O60656	.;UD19_HUMAN	D	152	ENSP00000346768:N152D	ENSP00000346768:N152D	N	+	1	0	UGT1A9	234245773	0.000000	0.05858	0.529000	0.27951	0.155000	0.21991	-0.288000	0.08377	-0.219000	0.10003	0.362000	0.22060	AAC	UGT1A9	-	pfam_UDP_glucos_trans	ENSG00000241119		0.398	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	UGT1A9	HGNC	protein_coding	OTTHUMT00000130995.1		0	33	0	A	NM_021027		234581034	1			no_errors	ENST00000354728	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.000	G	G	234581034	A	G	234581034	3	3	16	1	0	0	0	0	1	0	0	0	17001	362	13	4	456	4	UGT1A9	2	234581034	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	47976902	234581034	8618339	22	4672											
ESPNL	339768	genome.wustl.edu	37	chr2	239040155	239040155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctccagccagcgtcccGcctgggatacggagcctggc	5	7	14	15	3	0	0	0	0	0	0	2	2	2	2	5	4	4	1	5	4	1	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:239040155G>A	ENST00000343063.3	+	9	3063	c.2800G>A	c.(2800-2802)Gcc>Acc	p.A934T	ESPNL_ENST00000409506.1_Missense_Mutation_p.A566T|ESPNL_ENST00000409169.1_Missense_Mutation_p.A890T|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	934								p.A934S(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAGCGTCCCGCCTGGGATAC	0.721																																																	1	Substitution - Missense(1)	lung(1)											11	15	14					2																	239040155		2190	4283	6473	SO:0001583	missense	0			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2800G>A	2.37:g.239040155G>A	ENSP00000339115:p.Ala934Thr		Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A934T	ENST00000343063.3	37	c.2800	CCDS2525.1	2	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348790	0.11126	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.65549	-0.16;0.93;0.54	4.72	-0.577	0.11727	.	0.755923	0.12077	N	0.501623	T	0.44052	0.1275	L	0.53249	1.67	0.09310	N	1	P;B	0.36249	0.545;0.41	B;B	0.21151	0.033;0.015	T	0.29243	-1.0018	10	0.51188	T	0.08	-2.5112	2.4667	0.04554	0.1648:0.2779:0.4227:0.1346	.	890;934	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	T	934;890;566	ENSP00000339115:A934T;ENSP00000386577:A890T;ENSP00000386579:A566T	ENSP00000339115:A934T	A	+	1	0	ESPNL	238704894	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	0.052000	0.14163	-0.498000	0.06632	0.460000	0.39030	GCC	ESPNL	-	NULL	ENSG00000144488		0.721	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	HGNC	protein_coding	OTTHUMT00000257164.2	-	0	11	0	G	NM_194312		239040155	1	tier1	-	no_errors	ENST00000343063	ensembl	human	known	74_37	missense	38.46	8	5	SNP	0.000	A	A	239040155	G	A	239040155	3	1	16	1	0	0	0	0	1	0	0	0	5271	1087	38	1	2834	1	ESPNL	2	239040155	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	4459121	239040155	4159218	23	4673											
NDUFA10	4705	genome.wustl.edu	37	chr2	240954203	240954203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctctggaacgggcacatCgatgtaaatcaccaggtggg	11	7	13	10	2	2	0	1	0	1	0	3	3	2	1	2	4	1	2	2	4	3	1	rs200387097		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr2:240954203C>T	ENST00000252711.2	-	5	722	c.622G>A	c.(622-624)Gat>Aat	p.D208N	NDUFA10_ENST00000307300.4_Missense_Mutation_p.D248N|NDUFA10_ENST00000404554.1_Missense_Mutation_p.D208N	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	208					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		ACGGGCACATCGATGTAAATC	0.507													C|||	1	0.000199681	0	0	5008	,	,		19131	0.001		0	False		,,,				2504	0																0								C	ASN/ASP	0,4406		0,0,2203	132	119	123		622	4.4	0.2	2		123	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NDUFA10	NM_004544.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	208/356	240954203	1,13005	2203	4300	6503	SO:0001583	missense	0			AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"Mitochondrial respiratory chain complex / Complex I"	7684	protein-coding gene	gene with protein product	"complex I 42kDa subunit"	603835	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.622G>A	2.37:g.240954203C>T	ENSP00000252711:p.Asp208Asn		Q8WXC9	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su	p.D208N	ENST00000252711.2	37	c.622	CCDS2531.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.06	3.291576	0.59976	0.0	1.16E-4	ENSG00000130414	ENST00000252711;ENST00000404554;ENST00000422018;ENST00000307300	D;D;D	0.96011	-3.88;-3.88;-3.88	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.97589	0.9210	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.957;1.0	D	0.98274	1.0505	10	0.72032	D	0.01	-35.0111	14.8948	0.70636	0.0:1.0:0.0:0.0	.	248;213;208	Q8WXC9;Q59FM0;O95299	.;.;NDUAA_HUMAN	N	208;208;208;248	ENSP00000252711:D208N;ENSP00000385697:D208N;ENSP00000302321:D248N	ENSP00000252711:D208N	D	-	1	0	NDUFA10	240602876	1.000000	0.71417	0.212000	0.23672	0.019000	0.09904	7.189000	0.77747	2.194000	0.70268	0.467000	0.42956	GAT	NDUFA10	-	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su	ENSG00000130414		0.507	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA10	HGNC	protein_coding	OTTHUMT00000257180.2		0	14	0	C	NM_004544		240954203	-1			no_errors	ENST00000252711	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.997	T	T	240954203	C	T	240954203	3	4	16	1	0	0	0	0	1	0	0	0	10299	884	31	1	469	1	NDUFA10	2	240954203	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	1914048	240954203	2245170	24	4674											
EPM2AIP1	9852	genome.wustl.edu	37	chr3	37033713	37033713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatcataggagctcaacaGttccaagtgaagaaatcctg	15	9	8	9	0	2	2	2	1	0	1	4	3	4	3	2	1	3	2	2	1	6	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:37033713G>A	ENST00000322716.5	-	1	1082	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000458205.2_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	286					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						GAGCTCAACAGTTCCAAGTGA	0.408																																																	0													82	79	80					3																	37033713		1882	4112	5994	SO:0001819	synonymous_variant	0			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.856C>T	3.37:g.37033713G>A			O94866|Q9H3L3	Silent	SNP	NULL	p.L286	ENST00000322716.5	37	c.856	CCDS46790.1	3																																																																																			EPM2AIP1	-	NULL	ENSG00000178567		0.408	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1	-	0	25	0	G	NM_014805		37033713	-1	tier1	-	no_errors	ENST00000322716	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.592	A	A	37033713	G	A	37033713	2	1	16	1	0	0	0	0	0	0	0	1	5200	1020	36	3		3	EPM2AIP1	3	37033713	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		37033713	160988717	25	4675											
CELSR3	1951	genome.wustl.edu	37	chr3	48684260	48684260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctaaggtgcggtaaacgaGgagaatgataatggagatcc	14	7	13	7	2	0	3	0	1	0	2	1	6	1	3	2	4	2	1	2	4	5	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:48684260G>T	ENST00000164024.4	-	21	7511	c.7231C>A	c.(7231-7233)Ctc>Atc	p.L2411I	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2416I|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2411					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGTAAACGAGGAGAATGATA	0.607																																																	1	Substitution - Missense(1)	urinary_tract(1)											41	42	42					3																	48684260		2194	4286	6480	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7231C>A	3.37:g.48684260G>T	ENSP00000164024:p.Leu2411Ile		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L2416I	ENST00000164024.4	37	c.7246	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	g	5.246	0.230806	0.09969	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.08634	3.07;3.07	5.64	4.75	0.60458	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.04227	0.0117	N	0.10916	0.065	0.29262	N	0.871279	B;B	0.32409	0.035;0.37	B;B	0.30316	0.035;0.114	T	0.16541	-1.0399	9	0.02654	T	1	.	12.7892	0.57523	0.0:0.0:0.5494:0.4506	.	2411;2481	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	I	2411;2416	ENSP00000164024:L2411I;ENSP00000445694:L2416I	ENSP00000164024:L2411I	L	-	1	0	CELSR3	48659264	1.000000	0.71417	0.964000	0.40570	0.561000	0.35649	2.813000	0.48002	1.345000	0.45676	0.556000	0.70494	CTC	CELSR3	-	pfam_DUF3497	ENSG00000008300		0.607	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0	23	0	G	NM_001407		48684260	-1			no_errors	ENST00000544264	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.993	T	T	48684260	G	T	48684260	3	4	16	1	0	0	0	0	1	0	0	0	3230	1000	35	3	2767	3	CELSR3	3	48684260	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	11650547	48684260	149338170	26	4676											
OR5H6	79295	genome.wustl.edu	37	chr3	97983602	97983602	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaatgaactatgcatTcagctattagtcttgtcatt	12	15	6	8	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	5	6	rs75354046	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																																	0													109	102	104					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C			Q6IF88	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158	ENST00000383696.2	37	c.474	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000230301		0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0	57	0	T			97983602	1	tier1	rs75354046	no_errors	ENST00000383696	ensembl	human	known	74_37	silent	8.64	73	7	SNP	0.000	C	C	97983602	T	C	97983602	2	2	16	1	0	0	0	0	0	0	0	1	11202	1771	62	4		4	OR5H6	3	97983602	Silent	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	49299342	97983602	100038828	27	4677											
ZDHHC23	254887	genome.wustl.edu	37	chr3	113672833	113672833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttggactgttctctctgGgctacatgtactatgtgttc	5	16	10	10	0	2	0	0	0	2	0	4	1	2	1	1	2	2	4	1	2	3	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:113672833G>T	ENST00000330212.3	+	3	747	c.448G>T	c.(448-450)Ggc>Tgc	p.G150C	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G144C	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	150					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GTTCTCTCTGGGCTACATGTA	0.517																																																	0													140	127	131					3																	113672833		2203	4300	6503	SO:0001583	missense	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.448G>T	3.37:g.113672833G>T	ENSP00000330485:p.Gly150Cys		D3DN76	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.G150C	ENST00000330212.3	37	c.448	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764520	0.69878	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.47177	0.85;0.86	5.66	5.66	0.87406	.	0.220980	0.47455	D	0.000222	T	0.66327	0.2778	L	0.59436	1.845	0.58432	D	0.999997	D	0.89917	1.0	D	0.68353	0.957	T	0.64028	-0.6503	10	0.46703	T	0.11	-2.044	19.7359	0.96202	0.0:0.0:1.0:0.0	.	150	Q8IYP9	ZDH23_HUMAN	C	150;144	ENSP00000330485:G150C;ENSP00000417840:G144C	ENSP00000330485:G150C	G	+	1	0	ZDHHC23	115155523	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.019000	0.76412	2.672000	0.90937	0.462000	0.41574	GGC	ZDHHC23	-	NULL	ENSG00000184307		0.517	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	-	0	115	0	G	NM_173570		113672833	1	tier1	-	no_errors	ENST00000478793	ensembl	human	known	74_37	missense	22.08	120	34	SNP	1.000	T	T	113672833	G	T	113672833	3	4	16	1	0	0	0	0	1	0	0	0	17662	1232	43	3	454	3	ZDHHC23	3	113672833	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	15689231	113672833	84349597	28	4678											
IFT122	55764	genome.wustl.edu	37	chr3	129195555	129195555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctaccagcttattttcaGcacagtccatgggctttaca	9	14	6	12	0	2	0	1	0	1	0	3	0	3	0	2	1	4	3	2	1	3	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:129195555G>T	ENST00000348417.2	+	11	1135	c.1058G>T	c.(1057-1059)aGc>aTc	p.S353I	IFT122_ENST00000347300.2_Missense_Mutation_p.S294I|IFT122_ENST00000296266.3_Missense_Mutation_p.S404I|IFT122_ENST00000431818.2_Missense_Mutation_p.S203I|IFT122_ENST00000349441.2_Missense_Mutation_p.S242I|IFT122_ENST00000507564.1_Missense_Mutation_p.S345I|IFT122_ENST00000440957.2_Missense_Mutation_p.S144I|IFT122_ENST00000504021.1_Missense_Mutation_p.S247I	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	353					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTTATTTTCAGCACAGTCCAT	0.527																																																	0													99	100	99					3																	129195555		2203	4300	6503	SO:0001583	missense	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"WD repeat domain containing", "Intraflagellar transport homologs"	13556	protein-coding gene	gene with protein product		606045	"WD repeat domain 10", "intraflagellar transport 122 homolog (Chlamydomonas)"	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1058G>T	3.37:g.129195555G>T	ENSP00000324005:p.Ser353Ile		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S404I	ENST00000348417.2	37	c.1211	CCDS3061.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.510868|4.510868	0.85389|0.85389	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000512157;ENST00000515783|ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.|T;T;T;D;T;T;T;D	.|0.90133	.|0.65;-0.0;0.12;-2.62;0.78;0.78;0.64;-2.62	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95211|0.95211	0.8447|0.8447	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D;P;P;P;D;D	.|0.76494	.|0.999;0.996;0.985;0.896;0.896;0.937;0.998;0.999	.|D;D;P;B;B;P;D;D	.|0.83275	.|0.996;0.974;0.861;0.248;0.248;0.637;0.991;0.996	D|D	0.95163|0.95163	0.8283|0.8283	5|10	.|0.72032	.|D	.|0.01	-28.1798|-28.1798	19.7278|19.7278	0.96172|0.96172	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|144;345;247;193;242;294;353;404	.|E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.|.;.;.;.;.;.;IF122_HUMAN;.	H|I	231;179|294;404;345;294;203;247;242;353;193;144	.|ENSP00000323973:S294I;ENSP00000296266:S404I;ENSP00000425536:S345I;ENSP00000410946:S203I;ENSP00000422179:S247I;ENSP00000324165:S242I;ENSP00000324005:S353I;ENSP00000401569:S144I	.|ENSP00000296266:S404I	Q|S	+|+	3|2	2|0	IFT122|IFT122	130678245|130678245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.473000|7.473000	0.81007|0.81007	2.656000|2.656000	0.90262|0.90262	0.591000|0.591000	0.81541|0.81541	CAG|AGC	IFT122	-	NULL	ENSG00000163913		0.527	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	-	0	26	0	G	NM_018262		129195555	1	tier1	-	no_errors	ENST00000296266	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	T	T	129195555	G	T	129195555	3	4	16	1	0	0	0	0	1	0	0	0	7582	971	34	3	1257	3	IFT122	3	129195555	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	15522722	129195555	68826875	29	4679											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	19	0	A			178952085	1	tier1	rs121913279	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	54.55	10	12	SNP	1.000	T	T	178952085	A	T	178952085	3	4	16	1	0	0	0	0	1	0	0	0	11952	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	49756530	178952085	19070345	30	4680											
MCF2L2	23101	genome.wustl.edu	37	chr3	182948802	182948802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcaagtcacgtataatGcgcctgaatcacagcagcag	14	7	9	11	2	3	1	3	1	0	0	3	1	3	1	1	0	4	4	1	0	5	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:182948802G>A	ENST00000328913.3	-	16	2163	c.1866C>T	c.(1864-1866)cgC>cgT	p.R622R	MCF2L2_ENST00000473233.1_Silent_p.R622R|MCF2L2_ENST00000447025.2_Silent_p.R622R	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	622	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CACGTATAATGCGCCTGAATC	0.393																																																	0													120	111	114					3																	182948802		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1866C>T	3.37:g.182948802G>A			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R622	ENST00000328913.3	37	c.1866	CCDS3243.1	3																																																																																			MCF2L2	-	superfamily_DH-domain,pfscan_DH-domain	ENSG00000053524		0.393	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	-	0	20	0	G	NM_015078		182948802	-1	tier1	-	no_errors	ENST00000328913	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.031	A	A	182948802	G	A	182948802	2	1	16	1	0	0	0	0	0	0	0	1	9418	1306	46	3		3	MCF2L2	3	182948802	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	3996717	182948802	15073628	31	4681											
LRRC33	375387	genome.wustl.edu	37	chr3	196387351	196387351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgcggaccctcctgctGcgcgacaacaacatgggctt	9	8	11	13	3	0	0	0	0	0	0	1	2	1	1	2	2	5	3	2	2	3	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr3:196387351G>A	ENST00000328557.4	+	3	1040	c.837G>A	c.(835-837)ctG>ctA	p.L279L		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	279					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCCTCCTGCTGCGCGACAACA	0.617																																																	0													107	107	107					3																	196387351		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.837G>A	3.37:g.196387351G>A				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L279	ENST00000328557.4	37	c.837	CCDS3319.1	3																																																																																			NRROS	-	NULL	ENSG00000174004		0.617	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1	-	0	37	0	G	NM_198565		196387351	1	tier1	-	no_errors	ENST00000328557	ensembl	human	known	74_37	silent	54.90	23	28	SNP	0.024	A	A	196387351	G	A	196387351	2	1	16	1	0	0	0	0	0	0	0	1	9023	1306	46	3		3	LRRC33	3	196387351	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	13438549	196387351	1635079	32	4682											
PI4K2B	55300	genome.wustl.edu	37	chr4	25262150	25262150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttgttttgaaagacagGggcaatgataattggttagt	11	16	12	2	0	0	3	0	2	0	1	0	3	0	3	0	3	0	4	0	3	4	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr4:25262150G>T	ENST00000264864.6	+	6	1104	c.915G>T	c.(913-915)agG>agT	p.R305S	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R209S	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	305	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TGAAAGACAGGGGCAATGATA	0.294																																																	0													115	124	121					4																	25262150		2203	4299	6502	SO:0001583	missense	0			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.915G>T	4.37:g.25262150G>T	ENSP00000264864:p.Arg305Ser		Q9NUW2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.R305S	ENST00000264864.6	37	c.915	CCDS3433.1	4	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484187	0.63962	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.98914	-5.23;-5.23	5.76	3.13	0.36017	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.046975	0.85682	D	0.000000	D	0.99152	0.9707	H	0.97806	4.08	0.80722	D	1	P	0.50156	0.932	P	0.59221	0.854	D	0.98245	1.0490	10	0.87932	D	0	-8.3356	4.4678	0.11698	0.3696:0.0:0.4877:0.1428	.	305	Q8TCG2	P4K2B_HUMAN	S	209;305;274	ENSP00000423373:R209S;ENSP00000264864:R305S	ENSP00000264864:R305S	R	+	3	2	PI4K2B	24871248	0.996000	0.38824	1.000000	0.80357	0.953000	0.61014	0.342000	0.19926	0.466000	0.27193	0.650000	0.86243	AGG	PI4K2B	-	pfam_PI3/4_kinase_cat_dom	ENSG00000038210		0.294	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2B	HGNC	protein_coding	OTTHUMT00000250415.1		0	25	0	G	NM_018323		25262150	1			no_errors	ENST00000264864	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.998	T	T	25262150	G	T	25262150	3	4	16	1	0	0	0	0	1	0	0	0	11911	1223	43	3	937	3	PI4K2B	4	25262150	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		25262150	165892126	33	4683											
KDR	3791	genome.wustl.edu	37	chr4	55981097	55981097	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcattaatttttgctTcacagaagaccatgccagca	12	14	5	10	0	3	2	3	0	0	2	3	2	3	2	2	0	3	2	2	0	2	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr4:55981097T>A	ENST00000263923.4	-	5	897	c.602A>T	c.(601-603)gAa>gTa	p.E201V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	201	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATTTTTGCTTCACAGAAGAC	0.378			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													83	83	83					4																	55981097		2203	4300	6503	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.602A>T	4.37:g.55981097T>A	ENSP00000263923:p.Glu201Val		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.E201V	ENST00000263923.4	37	c.602	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	24.9	4.582255	0.86748	.	.	ENSG00000128052	ENST00000263923	T	0.04360	3.64	5.9	5.9	0.94986	Immunoglobulin-like fold (1);	0.051951	0.85682	D	0.000000	T	0.15435	0.0372	L	0.45228	1.405	0.58432	D	0.999992	D;D	0.76494	0.999;0.987	D;P	0.72982	0.979;0.719	T	0.00986	-1.1490	10	0.41790	T	0.15	.	16.315	0.82915	0.0:0.0:0.0:1.0	.	201;201	P35968-2;P35968	.;VGFR2_HUMAN	V	201	ENSP00000263923:E201V	ENSP00000263923:E201V	E	-	2	0	KDR	55675854	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.361000	0.79497	2.250000	0.74265	0.533000	0.62120	GAA	KDR	-	smart_Ig_sub	ENSG00000128052		0.378	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	-	0	22	0	T			55981097	-1	tier1	-	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	38.46	8	5	SNP	1.000	A	A	55981097	T	A	55981097	3	1	16	1	0	0	0	0	1	0	0	0	8166	1783	62	5	3572	5	KDR	4	55981097	Missense_Mutation	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	30718947	55981097	135173179	34	4684											
SLC45A2	51151	genome.wustl.edu	37	chr5	33984553	33984553	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccgcgtagcagaactCtcttccgaacatggccatgc	9	8	8	16	3	1	1	0	0	1	1	4	2	3	1	4	1	4	2	4	1	3	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr5:33984553C>A	ENST00000296589.4	-	1	282	c.136G>T	c.(136-138)Gag>Tag	p.E46*	SLC45A2_ENST00000382102.3_Nonsense_Mutation_p.E46*|SLC45A2_ENST00000509381.1_Nonsense_Mutation_p.E46*|SLC45A2_ENST00000345083.5_Nonsense_Mutation_p.E46*|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.E46*	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	46					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TAGCAGAACTCTCTTCCGAAC	0.562																																					Ovarian(31;380 859 8490 22203 49048)												0													60	53	56					5																	33984553		2203	4300	6503	SO:0001587	stop_gained	0			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.136G>T	5.37:g.33984553C>A	ENSP00000296589:p.Glu46*		Q6P2P0|Q9BTM3	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.E46*	ENST00000296589.4	37	c.136	CCDS3901.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.956448	0.97964	.	.	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000509381;ENST00000345083	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.8232	19.6584	0.95853	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000296589:E46X	E	-	1	0	SLC45A2	34020310	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.762000	0.85270	2.645000	0.89757	0.551000	0.68910	GAG	SLC45A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000164175		0.562	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	-	0	41	0	C	NM_016180		33984553	-1	tier1	-	no_errors	ENST00000296589	ensembl	human	known	74_37	nonsense	25.00	21	7	SNP	1.000	A	A	33984553	C	A	33984553	4	1	16	1	0	0	0	0	0	1	0	0	14686	922	32	3	1499	3	SLC45A2	5	33984553	Nonsense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09		33984553	146930707	35	4685											
MAP1B	4131	genome.wustl.edu	37	chr5	71493714	71493714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatagatgtcagtcagtttgGatcttttaaagaagacacta	15	13	8	5	0	3	3	2	0	1	3	3	4	3	4	0	1	0	1	0	1	6	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr5:71493714G>T	ENST00000296755.7	+	5	4830	c.4532G>T	c.(4531-4533)gGa>gTa	p.G1511V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1511					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTCAGTTTGGATCTTTTAAA	0.433																																					Melanoma(17;367 822 11631 31730 47712)												0													129	125	126					5																	71493714		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4532G>T	5.37:g.71493714G>T	ENSP00000296755:p.Gly1511Val		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.G1511V	ENST00000296755.7	37	c.4532	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090376	0.36855	.	.	ENSG00000131711	ENST00000296755	T	0.03607	3.87	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000004	T	0.02888	0.0086	N	0.19112	0.55	0.58432	D	0.999999	P;P	0.35077	0.483;0.483	B;B	0.21360	0.034;0.034	T	0.56147	-0.8027	10	0.54805	T	0.06	-20.9347	14.3622	0.66779	0.0:0.0:0.852:0.148	.	1385;1511	A2BDK6;P46821	.;MAP1B_HUMAN	V	1511	ENSP00000296755:G1511V	ENSP00000296755:G1511V	G	+	2	0	MAP1B	71529470	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.530000	0.60595	2.627000	0.88993	0.561000	0.74099	GGA	MAP1B	-	NULL	ENSG00000131711		0.433	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	31	0	G	NM_005909		71493714	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.992	T	T	71493714	G	T	71493714	3	4	16	1	0	0	0	0	1	0	0	0	9266	1174	41	3	4550	3	MAP1B	5	71493714	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	37509161	71493714	109421546	36	4686											
H2AFY	9555	genome.wustl.edu	37	chr5	134705831	134705831	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagctccagaatctcCgctgtggggagcagagatga	10	6	13	12	1	1	3	0	1	1	2	3	5	2	4	4	2	3	3	4	2	1	0	rs141756450		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr5:134705831C>T	ENST00000511689.1	-	3	767	c.174G>A	c.(172-174)gcG>gcA	p.A58A	H2AFY_ENST00000510038.1_Splice_Site_p.A58A|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Splice_Site_p.A58A|H2AFY_ENST00000312469.4_Splice_Site_p.A58A	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	58	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGAATCTCCGCTGTGGGGA	0.592																																																	0								C	,,,	0,4406		0,0,2203	67	54	58		174,174,174,174	-0.9	1	5	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	H2AFY	NM_001040158.1,NM_004893.2,NM_138609.2,NM_138610.2	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	58/372,58/372,58/370,58/373	134705831	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.173-1G>A	5.37:g.134705831C>T			O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom	p.A58	ENST00000511689.1	37	c.174	CCDS4185.1	5																																																																																			H2AFY	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,pirsf_Core_histone_macro-H2A,prints_Histone_H2A	ENSG00000113648		0.592	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	HGNC	protein_coding	OTTHUMT00000251196.3	-	0	30	0	C	NM_004893	Silent	134705831	-1	tier1	rs141756450	no_errors	ENST00000511689	ensembl	human	known	74_37	silent	39.39	20	13	SNP	0.988	T	T	134705831	C	T	134705831	5	4	16	1	0	0	0	0	0	0	1	0	6956	666	23	1	1067	1	H2AFY	5	134705831	Splice_Site	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	63212117	134705831	46209429	37	4687											
BTN1A1	696	genome.wustl.edu	37	chr6	26505212	26505212	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatggagaaatctgtctgGagtgcacctcagtgggatgg	11	9	15	6	0	3	2	1	0	2	2	3	5	3	4	1	4	1	1	1	4	2	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr6:26505212G>T	ENST00000244513.6	+	3	553	c.487G>T	c.(487-489)Gag>Tag	p.E163*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	163	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AATCTGTCTGGAGTGCACCTC	0.502																																																	0													78	76	76					6																	26505212		2203	4300	6503	SO:0001587	stop_gained	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.487G>T	6.37:g.26505212G>T	ENSP00000244513:p.Glu163*		Q4VAN3|Q4VAN4|Q9H458	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.E163*	ENST00000244513.6	37	c.487	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786970	0.70337	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	.	.	.	5.63	2.47	0.30058	.	0.359835	0.24024	N	0.042247	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.2721	0.20961	0.119:0.3369:0.544:0.0	.	.	.	.	X	163	.	ENSP00000244513:E163X	E	+	1	0	BTN1A1	26613191	0.996000	0.38824	0.879000	0.34478	0.368000	0.29767	0.385000	0.20685	0.167000	0.19631	0.655000	0.94253	GAG	BTN1A1	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000124557		0.502	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1		0	25	0	G	NM_001732		26505212	1			no_errors	ENST00000244513	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	0.980	T	T	26505212	G	T	26505212	4	4	16	1	0	0	0	0	0	1	0	0	1563	1175	41	3	497	3	BTN1A1	6	26505212	Nonsense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		26505212	144609855	38	4688											
SCAND3	114821	genome.wustl.edu	37	chr6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatctacttggcatcttGaactaacttccttaattgat	12	16	5	8	0	2	3	0	2	2	1	3	3	3	3	1	1	3	1	1	1	5	8			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338																																																	0													114	117	116					6																	28543364		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000452236.2:c.1118C>A	6.37:g.28543364G>T	ENSP00000395259:p.Ser373*			Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.S373*	ENST00000452236.2	37	c.1118	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	41	8.759941	0.98943	.	.	ENSG00000232040	ENST00000452236	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6309	0.45536	0.0:0.0:1.0:0.0	.	.	.	.	X	373	.	ENSP00000395259:S373X	S	-	2	0	SCAND3	28651343	0.999000	0.42202	0.978000	0.43139	0.998000	0.95712	2.230000	0.42999	1.935000	0.56089	0.655000	0.94253	TCA	SCAND3	-	pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	ENSG00000232040		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0	63	0	G			28543364	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	nonsense	5.88	80	5	SNP	0.994	T	T	28543364	G	T	28543364	4	4	16	1	0	0	0	0	0	1	0	0	13921	1294	45	3	2867	3	SCAND3	6	28543364	Nonsense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	2038152	28543364	142571703	39	4689											
MEP1A	4224	genome.wustl.edu	37	chr6	46787380	46787380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctttgggattttaccaCgagcagtcaaggacggaccg	10	9	12	10	3	1	0	1	0	0	0	1	4	1	3	2	3	3	2	2	3	2	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr6:46787380C>T	ENST00000230588.4	+	7	504	c.495C>T	c.(493-495)caC>caT	p.H165H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	165	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GATTTTACCACGAGCAGTCAA	0.473																																																	0													271	249	256					6																	46787380		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.495C>T	6.37:g.46787380C>T			A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.H165	ENST00000230588.4	37	c.495	CCDS4918.1	6																																																																																			MEP1A	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A	ENSG00000112818		0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	-	0	49	0	C	NM_005588		46787380	1	tier1	-	no_errors	ENST00000230588	ensembl	human	known	74_37	silent	81.58	14	62	SNP	0.948	T	T	46787380	C	T	46787380	2	4	16	1	0	0	0	0	0	0	0	1	9513	535	19	1		1	MEP1A	6	46787380	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	18244016	46787380	124327687	40	4690											
ADCY1	107	genome.wustl.edu	37	chr7	45614663	45614664	+	Frame_Shift_Ins	INS	-	-	T																															ttggtcaccttcgtgtcctaINStgccttgctgcccgtgcgca																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:45614663_45614664insT	ENST00000297323.7	+	1	543_544	c.521_522insT	c.(520-525)tatgccfs	p.A175fs	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	175					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTCGTGTCCTATGCCTTGCTGC	0.708																																																	0																																										SO:0001589	frameshift_variant	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.522dupT	7.37:g.45614664_45614664dupT	ENSP00000297323:p.Ala175fs		A4D2L8|Q75MI1	Frame_Shift_Ins	INS	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A175fs	ENST00000297323.7	37	c.521_522	CCDS34631.1	7																																																																																			ADCY1	-	NULL	ENSG00000164742		0.708	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2		0	38	0	-	NM_021116		45614664	1	tier1		no_errors	ENST00000297323	ensembl	human	known	74_37	frame_shift_ins	25.00	57	19	INS	1.000:0.998	T	T	45614664	-	T	45614663	7	5	16	1	0	1	1	0	0	0	0	0	292	449	16	0	523	0	ADCY1	7	45614663	Frame_Shift_Ins	INS	-	TCGA-IG-A3QL-01A-11D-A247-09		45614663	113524000	41	4691											
MLXIPL	51085	genome.wustl.edu	37	chr7	73013902	73013902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcatggccgaggaagccGggggcacctctgggcccagg	6	4	19	12	2	2	0	1	0	1	0	2	2	2	1	4	7	1	1	4	7	1	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:73013902G>A	ENST00000313375.3	-	8	1072	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L	MLXIPL_ENST00000434326.1_Missense_Mutation_p.P249L|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P342L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P249L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P342L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P342L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	342					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGAGGAAGCCGGGGGCACCTC	0.652																																																	0													43	51	48					7																	73013902		2203	4300	6503	SO:0001583	missense	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1025C>T	7.37:g.73013902G>A	ENSP00000320886:p.Pro342Leu		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P342L	ENST00000313375.3	37	c.1025	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	g	8.404	0.842674	0.16963	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.20200	2.63;2.63;2.64;2.62;2.1;2.09	4.52	3.63	0.41609	.	0.882355	0.09547	U	0.787490	T	0.17066	0.0410	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.15473	0.013;0.004;0.002;0.004;0.004;0.004	B;B;B;B;B;B	0.08055	0.001;0.003;0.001;0.002;0.002;0.002	T	0.26087	-1.0113	10	0.28530	T	0.3	-0.4225	8.5505	0.33449	0.1092:0.0:0.8908:0.0	.	249;249;342;342;342;342	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	L	342;342;342;342;249;249;175	ENSP00000412330:P342L;ENSP00000406296:P342L;ENSP00000320886:P342L;ENSP00000346629:P342L;ENSP00000378616:P249L;ENSP00000392636:P249L	ENSP00000320886:P342L	P	-	2	0	MLXIPL	72651838	0.446000	0.25665	0.005000	0.12908	0.006000	0.05464	3.942000	0.56614	0.894000	0.36317	0.550000	0.68814	CCG	MLXIPL	-	NULL	ENSG00000009950		0.652	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	-	0	20	0	G	NM_032951		73013902	-1	tier1	-	no_errors	ENST00000313375	ensembl	human	known	74_37	missense	37.74	32	20	SNP	0.002	A	A	73013902	G	A	73013902	3	1	16	1	0	0	0	0	1	0	0	0	9675	1116	39	1	1573	1	MLXIPL	7	73013902	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	27399239	73013902	86124761	42	4692											
MLXIPL	51085	genome.wustl.edu	37	chr7	73013937	73013937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagggtcccactgctgaaGagggagtcaaccacggggct	9	5	14	13	1	1	2	1	1	0	1	2	3	2	3	3	4	2	2	3	4	2	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:73013937G>A	ENST00000313375.3	-	8	1037	c.990C>T	c.(988-990)ctC>ctT	p.L330L	MLXIPL_ENST00000434326.1_Silent_p.L237L|MLXIPL_ENST00000414749.2_Silent_p.L330L|MLXIPL_ENST00000395189.1_Silent_p.L237L|MLXIPL_ENST00000429400.2_Silent_p.L330L|MLXIPL_ENST00000354613.1_Silent_p.L330L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	330					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACTGCTGAAGAGGGAGTCAA	0.632																																																	0													48	57	54					7																	73013937		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.990C>T	7.37:g.73013937G>A			C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L330	ENST00000313375.3	37	c.990	CCDS5553.1	7																																																																																			MLXIPL	-	NULL	ENSG00000009950		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1		0	19	0	G	NM_032951		73013937	-1			no_errors	ENST00000313375	ensembl	human	known	74_37	silent	57.50	16	23	SNP	0.661	A	A	73013937	G	A	73013937	2	1	16	1	0	0	0	0	0	0	0	1	9675	929	33	3		3	MLXIPL	7	73013937	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	35	73013937	86124726	43	4693											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86556124	86556124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccattgttataaaatccagGgttgcaaggcggacaatcct	12	11	9	9	1	0	0	0	0	0	0	3	1	3	1	3	3	1	3	3	3	5	4			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:86556124G>T	ENST00000450689.2	-	9	1383	c.1198C>A	c.(1198-1200)Cct>Act	p.P400T	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.P400T|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.P233T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.P160T	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	400						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TAAAATCCAGGGTTGCAAGGC	0.458																																																	0													136	135	135					7																	86556124		2203	4300	6503	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1198C>A	7.37:g.86556124G>T	ENSP00000413445:p.Pro400Thr		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.P400T	ENST00000450689.2	37	c.1198	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.416585|4.416585	0.83449|0.83449	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	.|T;T;T;T	.|0.16073	.|2.37;2.37;2.37;2.37	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Growth factor, receptor (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47377|0.47377	0.1442|0.1442	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.985;0.985	.|D;P;P	.|0.74674	.|0.984;0.847;0.847	T|T	0.49615|0.49615	-0.8921|-0.8921	6|10	.|0.62326	.|D	.|0.03	.|.	18.4488|18.4488	0.90696|0.90696	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|400;160;233	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	H|T	360|400;160;400;233	.|ENSP00000413445:P400T;ENSP00000297222:P160T;ENSP00000397377:P400T;ENSP00000402390:P233T	.|ENSP00000297222:P160T	P|P	-|-	2|1	0|0	KIAA1324L|KIAA1324L	86394060|86394060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.868000|7.868000	0.87116|0.87116	2.596000|2.596000	0.87737|0.87737	0.563000|0.563000	0.77884|0.77884	CCC|CCT	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.458	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	27	0	G	NM_152748		86556124	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	43.94	37	29	SNP	1.000	T	T	86556124	G	T	86556124	3	4	16	1	0	0	0	0	1	0	0	0	8251	1232	43	3	1947	3	KIAA1324L	7	86556124	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	13542187	86556124	72582539	44	4694											
SAMD9L	219285	genome.wustl.edu	37	chr7	92761326	92761326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcctggagtaattgaCtctctttactttgtaataga	9	17	6	9	0	2	2	0	1	2	1	5	3	3	3	2	1	1	2	2	1	4	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:92761326C>A	ENST00000318238.4	-	5	5175	c.3959G>T	c.(3958-3960)aGt>aTt	p.S1320I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1320I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1320I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1320					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGTAATTGACTCTCTTTACT	0.373																																																	0													74	77	76					7																	92761326		2202	4297	6499	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3959G>T	7.37:g.92761326C>A	ENSP00000326247:p.Ser1320Ile		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.S1320I	ENST00000318238.4	37	c.3959	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	C	8.531	0.870932	0.17322	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.24908	1.83;1.83;1.83	4.37	1.5	0.22942	.	1.375690	0.04523	N	0.384970	T	0.32164	0.0820	L	0.48642	1.525	0.09310	N	1	P	0.36837	0.571	B	0.43386	0.418	T	0.40664	-0.9551	10	0.59425	D	0.04	-1.1091	9.2196	0.37368	0.0:0.7327:0.0:0.2673	.	1320	Q8IVG5	SAM9L_HUMAN	I	1320	ENSP00000326247:S1320I;ENSP00000405760:S1320I;ENSP00000408796:S1320I	ENSP00000326247:S1320I	S	-	2	0	SAMD9L	92599262	0.009000	0.17119	0.001000	0.08648	0.154000	0.21943	-0.275000	0.08525	0.571000	0.29365	0.467000	0.42956	AGT	SAMD9L	-	NULL	ENSG00000177409		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	35	0	C	NM_152703		92761326	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.001	A	A	92761326	C	A	92761326	3	1	16	1	0	0	0	0	1	0	0	0	13872	565	20	3	799	3	SAMD9L	7	92761326	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	6205202	92761326	66377337	45	4695											
FAM71F1	84691	genome.wustl.edu	37	chr7	128370053	128370053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagagagaacccctcCggcctgcagcccctctcact	9	6	10	16	1	1	2	1	0	1	2	3	4	2	3	6	2	3	1	6	2	2	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:128370053C>T	ENST00000315184.5	+	6	1004	c.951C>T	c.(949-951)tcC>tcT	p.S317S	FAM71F1_ENST00000485070.1_Silent_p.S216S	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	317										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGAACCCCTCCGGCCTGCAGC	0.587																																																	0													97	94	95					7																	128370053		2203	4300	6503	SO:0001819	synonymous_variant	0			AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"family with sequence similarity 137, member A"	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.951C>T	7.37:g.128370053C>T			Q8IY75|Q8NA48	Silent	SNP	pfam_DUF3699	p.S317	ENST00000315184.5	37	c.951	CCDS5804.1	7																																																																																			FAM71F1	-	NULL	ENSG00000135248		0.587	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71F1	HGNC	protein_coding	OTTHUMT00000350544.2	-	0	18	0	C	NM_032599		128370053	1	tier1	-	no_errors	ENST00000315184	ensembl	human	known	74_37	silent	42.42	38	28	SNP	0.422	T	T	128370053	C	T	128370053	2	4	16	1	0	0	0	0	0	0	0	1	5634	639	23	1		1	FAM71F1	7	128370053	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	35608727	128370053	30768610	46	4696											
CHRM2	1129	genome.wustl.edu	37	chr7	136700063	136700063	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagctgcctgggtcctcTctttcatcctctgggctcca	3	14	9	15	0	3	0	1	0	2	0	7	0	6	0	4	2	3	3	4	2	0	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:136700063T>A	ENST00000445907.2	+	3	979	c.451T>A	c.(451-453)Tct>Act	p.S151T	hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.S151T|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.S151T|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.S151T|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.S151T|CHRM2_ENST00000401861.1_Missense_Mutation_p.S151T	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	151					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CTGGGTCCTCTCTTTCATCCT	0.498																																																	0													67	69	68					7																	136700063		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.451T>A	7.37:g.136700063T>A	ENSP00000399745:p.Ser151Thr		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.S151T	ENST00000445907.2	37	c.451	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041975	0.75732	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80625	-0.1299	10	0.87932	D	0	-1.8013	15.8773	0.79173	0.0:0.0:0.0:1.0	.	151	P08172	ACM2_HUMAN	T	151	ENSP00000399745:S151T;ENSP00000415386:S151T;ENSP00000319984:S151T;ENSP00000380733:S151T;ENSP00000384937:S151T;ENSP00000384401:S151T	ENSP00000319984:S151T	S	+	1	0	CHRM2	136350603	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.991000	0.88244	2.149000	0.67028	0.533000	0.62120	TCT	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181072		0.498	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	20	0	T			136700063	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	A	A	136700063	T	A	136700063	3	1	16	1	0	0	0	0	1	0	0	0	3384	1551	54	5	453	5	CHRM2	7	136700063	Missense_Mutation	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	8330010	136700063	22438600	47	4697											
DGKI	9162	genome.wustl.edu	37	chr7	137374664	137374664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaaagtcgctctgggCtccttggctggaccatttgc	6	11	11	13	1	1	0	0	0	1	0	4	1	3	1	3	3	1	3	3	3	1	2	rs565718008		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:137374664C>T	ENST00000288490.5	-	2	486	c.486G>A	c.(484-486)gaG>gaA	p.E162E	DGKI_ENST00000453654.2_Intron|DGKI_ENST00000446122.1_Silent_p.E162E|DGKI_ENST00000424189.2_Silent_p.E162E	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	162					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCGCTCTGGGCTCCTTGGCTG	0.512																																																	0													76	70	72					7																	137374664		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.486G>A	7.37:g.137374664C>T			A4D1Q9|Q9NZ49	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E162	ENST00000288490.5	37	c.486	CCDS5845.1	7																																																																																			DGKI	-	NULL	ENSG00000157680		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	12	0	C	NM_004717		137374664	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	T	T	137374664	C	T	137374664	2	4	16	1	0	0	0	0	0	0	0	1	4485	796	28	3		3	DGKI	7	137374664	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	674601	137374664	21763999	48	4698											
KIAA1549	57670	genome.wustl.edu	37	chr7	138552846	138552846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgacctggtgtttccggcGaggcttgggagaacgtttta	6	13	15	7	3	0	2	0	1	0	1	1	4	1	2	2	4	1	4	2	4	2	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:138552846G>A	ENST00000422774.1	-	15	4852	c.4804C>T	c.(4804-4806)Cgc>Tgc	p.R1602C	KIAA1549_ENST00000440172.1_Missense_Mutation_p.R1602C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1552C			Q9HCM3	K1549_HUMAN	KIAA1549	1602						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTTTCCGGCGAGGCTTGGGA	0.542			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													47	53	51					7																	138552846		2036	4176	6212	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4804C>T	7.37:g.138552846G>A	ENSP00000416040:p.Arg1602Cys		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.R1602C	ENST00000422774.1	37	c.4804	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113284	0.77210	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.29397	1.57;1.58;1.6	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;0.997	T	0.55062	-0.8199	10	0.72032	D	0.01	.	11.9633	0.53021	0.0:0.0:0.8268:0.1732	.	1602;386;1602;386	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	C	1602;1552;1602	ENSP00000406661:R1602C;ENSP00000242365:R1552C;ENSP00000416040:R1602C	ENSP00000242365:R1552C	R	-	1	0	KIAA1549	138203386	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	4.091000	0.57700	2.493000	0.84123	0.655000	0.94253	CGC	KIAA1549	-	NULL	ENSG00000122778		0.542	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0	29	0	G			138552846	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	26.67	44	16	SNP	0.996	A	A	138552846	G	A	138552846	3	1	16	1	0	0	0	0	1	0	0	0	8271	1058	37	1	1072	1	KIAA1549	7	138552846	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	1178182	138552846	20585817	49	4699											
BRAF	673	genome.wustl.edu	37	chr7	140501216	140501216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttggattacttactcaaGttggtcataattaacacaca	13	16	5	7	0	2	0	2	0	0	0	2	1	2	1	0	2	3	1	0	2	5	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:140501216G>C	ENST00000288602.6	-	6	916	c.856C>G	c.(856-858)Ctt>Gtt	p.L286V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	286					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ACTTACTCAAGTTGGTCATAA	0.353		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													70	67	68					7																	140501216		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.856C>G	7.37:g.140501216G>C	ENSP00000288602:p.Leu286Val		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.L286V	ENST00000288602.6	37	c.856	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163166	0.78226	.	.	ENSG00000157764	ENST00000288602	T	0.75367	-0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.28274	0.84	0.80722	D	1	P	0.39831	0.69	B	0.33454	0.164	T	0.60250	-0.7300	10	0.16896	T	0.51	.	19.3383	0.94329	0.0:0.0:1.0:0.0	.	286	P15056	BRAF_HUMAN	V	286	ENSP00000288602:L286V	ENSP00000288602:L286V	L	-	1	0	BRAF	140147685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.786000	0.99046	2.569000	0.86673	0.655000	0.94253	CTT	BRAF	-	NULL	ENSG00000157764		0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	-	0	27	0	G	NM_004333		140501216	-1	tier1	-	no_errors	ENST00000288602	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	C	C	140501216	G	C	140501216	3	2	16	1	0	0	0	0	1	0	0	0	1500	1029	36	5	1496	5	BRAF	7	140501216	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	1948370	140501216	18637447	50	4700											
OR9A4	130075	genome.wustl.edu	37	chr7	141619217	141619217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaacaattttttttgtgaccGagggcaattgctcaaactat	12	14	8	7	1	1	1	1	1	0	0	1	3	1	1	1	1	3	2	1	1	5	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:141619217G>C	ENST00000548136.1	+	1	601	c.542G>C	c.(541-543)cGa>cCa	p.R181P	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R181L(1)|p.R181Q(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTTTGTGACCGAGGGCAATTG	0.383																																																	2	Substitution - Missense(2)	lung(2)											158	158	158					7																	141619217		2070	4246	6316	SO:0001583	missense	0				CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"GPCR / Class A : Olfactory receptors"	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.542G>C	7.37:g.141619217G>C	ENSP00000448789:p.Arg181Pro		B9EGV6|Q6IFI4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R181P	ENST00000548136.1	37	c.542	CCDS43661.1	7	.	.	.	.	.	.	.	.	.	.	.	12.28	1.890033	0.33348	.	.	ENSG00000258083	ENST00000548136	T	0.35605	1.3	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.37320	0.0999	L	0.31578	0.945	0.29877	N	0.826324	P	0.47350	0.894	P	0.54210	0.745	T	0.13019	-1.0525	9	0.38643	T	0.18	-4.9263	8.9047	0.35517	0.0:0.0:0.7774:0.2226	.	181	Q8NGU2	OR9A4_HUMAN	P	181	ENSP00000448789:R181P	ENSP00000386148:R181P	R	+	2	0	OR9A4	141265686	0.000000	0.05858	1.000000	0.80357	0.555000	0.35460	0.296000	0.19083	2.121000	0.65114	0.655000	0.94253	CGA	OR9A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000258083		0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A4	HGNC	protein_coding	OTTHUMT00000350806.3	-	0	27	0	G	NM_001001656		141619217	1	tier1	-	no_errors	ENST00000548136	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.995	C	C	141619217	G	C	141619217	3	2	16	1	0	0	0	0	1	0	0	0	11288	1058	37	5	544	5	OR9A4	7	141619217	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	1118001	141619217	17519446	51	4701											
MLL3	58508	genome.wustl.edu	37	chr7	151878713	151878713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatctataggtcttggtgTcaaagcaggcctttcataag	11	14	9	7	0	4	0	2	0	2	0	4	0	4	0	1	3	1	1	1	3	5	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr7:151878713T>C	ENST00000262189.6	-	36	6450	c.6232A>G	c.(6232-6234)Aca>Gca	p.T2078A	KMT2C_ENST00000355193.2_Missense_Mutation_p.T2078A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2078	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTCTTGGTGTCAAAGCAGGC	0.453																																																	0													73	74	73					7																	151878713		2203	4300	6503	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6232A>G	7.37:g.151878713T>C	ENSP00000262189:p.Thr2078Ala		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T2078A	ENST00000262189.6	37	c.6232	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	T	15.03	2.712000	0.48517	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84660	-1.88;-1.88	5.52	4.36	0.52297	.	0.000000	0.46145	D	0.000309	D	0.89615	0.6766	L	0.60455	1.87	0.80722	D	1	D;P	0.69078	0.997;0.94	D;P	0.75020	0.985;0.731	D	0.89114	0.3498	10	0.59425	D	0.04	.	11.4437	0.50110	0.0:0.0708:0.0:0.9292	.	2078;1139	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	A	2078	ENSP00000262189:T2078A;ENSP00000347325:T2078A	ENSP00000262189:T2078A	T	-	1	0	MLL3	151509646	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	3.221000	0.51215	0.919000	0.36945	0.460000	0.39030	ACA	KMT2C	-	NULL	ENSG00000055609		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	29	0	T			151878713	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	17.24	48	10	SNP	1.000	C	C	151878713	T	C	151878713	3	2	16	1	0	0	0	0	1	0	0	0	9660	1667	58	4	8599	4	MLL3	7	151878713	Missense_Mutation	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	10259496	151878713	7259950	52	4702											
CHD7	55636	genome.wustl.edu	37	chr8	61765096	61765096	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgatttttaccgtgtggtAtccacctttggggttatttt	5	19	10	7	1	0	1	0	1	0	0	1	1	1	1	3	3	1	3	3	3	3	8			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:61765096A>T	ENST00000423902.2	+	30	6413	c.5934A>T	c.(5932-5934)gtA>gtT	p.V1978V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1978					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACCGTGTGGTATCCACCTTTG	0.383																																																	0													56	51	52					8																	61765096		1846	4090	5936	SO:0001819	synonymous_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5934A>T	8.37:g.61765096A>T			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V1978	ENST00000423902.2	37	c.5934	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.383	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	21	0	A	XM_098762		61765096	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	54.29	15	19	SNP	0.074	T	T	61765096	A	T	61765096	2	4	16	1	0	0	0	0	0	0	0	1	3337	436	16	5		5	CHD7	8	61765096	Silent	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09		61765096	84598926	53	4703											
RRS1	23212	genome.wustl.edu	37	chr8	67342179	67342179	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagaaccagttggagctGcttcgtgtcatgaacagcaa	15	8	10	8	1	1	2	1	1	0	1	2	3	1	3	1	1	5	4	1	1	5	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:67342179G>T	ENST00000320270.2	+	1	917	c.813G>T	c.(811-813)ctG>ctT	p.L271L	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	271					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGTTGGAGCTGCTTCGTGTCA	0.572																																																	0													26	30	29					8																	67342179		2202	4300	6502	SO:0001819	synonymous_variant	0			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.813G>T	8.37:g.67342179G>T			Q9BUX8	Silent	SNP	pfam_Ribosom_reg	p.L271	ENST00000320270.2	37	c.813	CCDS6189.1	8																																																																																			RRS1	-	NULL	ENSG00000179041		0.572	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1	-	0	15	0	G	NM_015169		67342179	1	tier1	-	no_errors	ENST00000320270	ensembl	human	known	74_37	silent	45.95	20	17	SNP	0.991	T	T	67342179	G	T	67342179	2	4	16	1	0	0	0	0	0	0	0	1	13737	1306	46	3		3	RRS1	8	67342179	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	5577083	67342179	79021843	54	4704											
DCAF4L2	138009	genome.wustl.edu	37	chr8	88885726	88885726	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacagcgacgctgggagCagcacggcacagcttggagt	11	5	15	10	3	0	1	0	1	0	0	0	4	0	3	0	3	5	5	0	3	1	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:88885726C>G	ENST00000319675.3	-	1	570	c.474G>C	c.(472-474)ctG>ctC	p.L158L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	158										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACGCTGGGAGCAGCACGGCAC	0.567																																																	0													101	93	96					8																	88885726		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.474G>C	8.37:g.88885726C>G				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L158	ENST00000319675.3	37	c.474	CCDS6245.1	8																																																																																			DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	-	0	28	0	C	NM_152418		88885726	-1	tier1	-	no_errors	ENST00000319675	ensembl	human	known	74_37	silent	44.44	25	20	SNP	0.913	G	G	88885726	C	G	88885726	2	3	16	1	0	0	0	0	0	0	0	1	4281	697	25	5		5	DCAF4L2	8	88885726	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	21543547	88885726	57478296	55	4705											
LRP12	29967	genome.wustl.edu	37	chr8	105509215	105509215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaccttctttcaaacattCtcagagaataaagcttacaa	15	12	4	10	0	3	2	2	1	2	1	4	3	3	2	1	0	3	1	1	0	6	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:105509215C>G	ENST00000276654.5	-	5	1673	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	LRP12_ENST00000424843.2_Missense_Mutation_p.R503T|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	522					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAAACATTCTCAGAGAATA	0.423																																																	0													84	76	79					8																	105509215		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1565G>C	8.37:g.105509215C>G	ENSP00000276654:p.Arg522Thr		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.R503T	ENST00000276654.5	37	c.1508	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308903	0.81247	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.94457	-2.15;-2.08;-3.43	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	M	0.67953	2.075	0.80722	D	1	D;D	0.63880	0.989;0.993	D;D	0.75020	0.985;0.977	D	0.97044	0.9759	10	0.87932	D	0	-22.7137	20.0693	0.97712	0.0:1.0:0.0:0.0	.	503;522	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	503;522;111	ENSP00000399148:R503T;ENSP00000276654:R522T;ENSP00000429305:R111T	ENSP00000276654:R522T	R	-	2	0	LRP12	105578391	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.818000	0.86416	2.758000	0.94735	0.563000	0.77884	AGA	LRP12	-	NULL	ENSG00000147650		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	24	0	C	NM_013437		105509215	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	47.37	30	27	SNP	1.000	G	G	105509215	C	G	105509215	3	3	16	1	0	0	0	0	1	0	0	0	8989	913	32	5	1026	5	LRP12	8	105509215	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	16623489	105509215	40854807	56	4706											
CSMD3	114788	genome.wustl.edu	37	chr8	113277651	113277651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatacctctacaagttGgcattactccactccatgtg	10	14	5	12	0	2	0	1	0	1	0	4	0	4	0	3	1	3	2	3	1	5	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:113277651G>T	ENST00000297405.5	-	60	9921	c.9677C>A	c.(9676-9678)cCa>cAa	p.P3226Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.P3156Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P3057Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3186Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3226	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTACAAGTTGGCATTACTCC	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													145	131	136					8																	113277651		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9677C>A	8.37:g.113277651G>T	ENSP00000297405:p.Pro3226Gln		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P3226Q	ENST00000297405.5	37	c.9677	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950010	0.73787	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.94228	0.8147	H	0.99770	4.765	0.80722	D	1	D;D;B	0.89917	1.0;0.987;0.451	D;D;B	0.97110	1.0;0.976;0.212	D	0.96583	0.9432	10	0.72032	D	0.01	.	19.611	0.95606	0.0:0.0:1.0:0.0	.	3057;3226;3186	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	3186;3226;2496;3057;3156	ENSP00000345799:P3186Q;ENSP00000297405:P3226Q;ENSP00000341558:P2496Q;ENSP00000412263:P3057Q;ENSP00000343124:P3156Q	ENSP00000297405:P3226Q	P	-	2	0	CSMD3	113346827	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	9.813000	0.99286	2.714000	0.92807	0.585000	0.79938	CCA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	23	0	G	NM_052900		113277651	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	113277651	G	T	113277651	3	4	16	1	0	0	0	0	1	0	0	0	3955	1348	47	3	1494	3	CSMD3	8	113277651	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	7768436	113277651	33086371	57	4707											
FAM135B	51059	genome.wustl.edu	37	chr8	139209800	139209800	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgtcccgcatgatcAccaggaagtggagacggaga	11	6	15	9	2	1	3	1	1	0	2	2	7	2	5	2	4	0	1	2	4	1	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:139209800A>T	ENST00000395297.1	-	8	952	c.782T>A	c.(781-783)gTg>gAg	p.V261E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	261										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCGCATGATCACCAGGAAGTG	0.612										HNSCC(54;0.14)																																							0													62	72	68					8																	139209800		2144	4265	6409	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.782T>A	8.37:g.139209800A>T	ENSP00000378710:p.Val261Glu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.V261E	ENST00000395297.1	37	c.782	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	A	1.295	-0.606437	0.03717	.	.	ENSG00000147724	ENST00000395297	T	0.78246	-1.16	4.74	-0.575	0.11734	.	1.530380	0.03652	N	0.241177	T	0.61887	0.2383	L	0.36672	1.1	0.19775	N	0.999952	B	0.26400	0.148	B	0.22152	0.038	T	0.45848	-0.9233	10	0.02654	T	1	-0.1869	4.155	0.10256	0.5203:0.1765:0.3032:0.0	.	261	Q49AJ0	F135B_HUMAN	E	261	ENSP00000378710:V261E	ENSP00000276737:V261E	V	-	2	0	FAM135B	139278982	0.063000	0.20901	0.097000	0.21041	0.736000	0.42039	0.331000	0.19733	-0.233000	0.09797	0.460000	0.39030	GTG	FAM135B	-	NULL	ENSG00000147724		0.612	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	24	0	A	NM_015912		139209800	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.070	T	T	139209800	A	T	139209800	3	4	16	1	0	0	0	0	1	0	0	0	5468	159	6	5	3490	5	FAM135B	8	139209800	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	25932149	139209800	7154222	58	4708											
FAM135B	51059	genome.wustl.edu	37	chr8	139268978	139268978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaccttgagttgaaaatCtacttcactcagtgcgtctt	10	14	6	11	1	4	2	2	2	2	0	5	2	5	2	2	0	2	1	2	0	3	5	rs376116724		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr8:139268978C>T	ENST00000395297.1	-	5	492	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	108								p.D108H(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTTGAAAATCTACTTCACTC	0.433										HNSCC(54;0.14)																																							2	Substitution - Missense(2)	lung(2)											113	105	108					8																	139268978		1948	4147	6095	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.322G>A	8.37:g.139268978C>T	ENSP00000378710:p.Asp108Asn		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.D108N	ENST00000395297.1	37	c.322	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	26.5	4.745916	0.89663	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15017	2.46	5.35	5.35	0.76521	.	0.058613	0.64402	D	0.000004	T	0.20495	0.0493	L	0.39898	1.24	0.54753	D	0.99998	D	0.56035	0.974	P	0.47981	0.563	T	0.02214	-1.1194	10	0.13470	T	0.59	-6.4081	18.4074	0.90541	0.0:1.0:0.0:0.0	.	108	Q49AJ0	F135B_HUMAN	N	108	ENSP00000378710:D108N	ENSP00000160713:D108N	D	-	1	0	FAM135B	139338160	1.000000	0.71417	0.510000	0.27712	0.923000	0.55619	7.610000	0.82949	2.663000	0.90544	0.655000	0.94253	GAT	FAM135B	-	NULL	ENSG00000147724		0.433	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	18	0	C	NM_015912		139268978	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	53.57	13	15	SNP	1.000	T	T	139268978	C	T	139268978	3	4	16	1	0	0	0	0	1	0	0	0	5468	913	32	3	3962	3	FAM135B	8	139268978	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	59178	139268978	7095044	59	4709											
DMRT2	10655	genome.wustl.edu	37	chr9	1056731	1056731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacttgaagggagcaCgagtccaggatggactcagt	10	7	16	8	1	1	1	1	1	0	0	2	6	2	5	1	4	1	2	1	4	1	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:1056731C>G	ENST00000358146.2	+	3	1144	c.1144C>G	c.(1144-1146)Cga>Gga	p.R382G	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.R382G|DMRT2_ENST00000302441.6_Missense_Mutation_p.R382G|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	382					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		GAAGGGAGCACGAGTCCAGGA	0.572																																																	0													90	86	87					9																	1056731		2203	4300	6503	SO:0001583	missense	0			AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"terra-like protein"	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1144C>G	9.37:g.1056731C>G	ENSP00000350865:p.Arg382Gly		B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.R382G	ENST00000358146.2	37	c.1144	CCDS6444.1	9	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449866	0.12223	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.23950	1.88;1.88;1.88	5.78	2.9	0.33743	.	1.034030	0.07594	N	0.922499	T	0.22282	0.0537	N	0.22421	0.69	0.09310	N	1	B;B	0.28055	0.199;0.151	B;B	0.29176	0.099;0.065	T	0.36114	-0.9761	10	0.37606	T	0.19	-3.0017	14.8842	0.70555	0.3755:0.6245:0.0:0.0	.	382;226	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	G	382	ENSP00000371686:R382G;ENSP00000305785:R382G;ENSP00000350865:R382G	ENSP00000305785:R382G	R	+	1	2	DMRT2	1046731	0.037000	0.19845	0.007000	0.13788	0.538000	0.34931	2.098000	0.41757	0.349000	0.23975	-0.133000	0.14855	CGA	DMRT2	-	NULL	ENSG00000173253		0.572	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT2	HGNC	protein_coding	OTTHUMT00000051492.1	-	0	27	0	C	NM_006557		1056731	1	tier1	-	no_errors	ENST00000302441	ensembl	human	known	74_37	missense	31.25	33	15	SNP	0.193	G	G	1056731	C	G	1056731	3	3	16	1	0	0	0	0	1	0	0	0	4600	528	19	5	1211	5	DMRT2	9	1056731	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09		1056731	140156700	60	4710											
DCAF12	25853	genome.wustl.edu	37	chr9	34093300	34093301	+	Missense_Mutation	DNP	GG	GG	TA																															ttaccactgcctcgctccctGgaacagacagacttgacgtt																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:34093300_34093301GG>TA	ENST00000361264.4	-	7	1348_1349	c.1007_1008CC>TA	c.(1006-1008)tCC>tTA	p.S336L	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	336					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTCGCTCCCTGGAACAGACAGA	0.505																																																	0																																										SO:0001583	missense	0			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1007_1008delinsTA	9.37:g.34093300_34093301delinsTA	ENSP00000355114:p.Ser336Leu		A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent|Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S336|p.S336F	ENST00000361264.4	37	c.1008|c.1007	CCDS6549.1	9																																																																																			DCAF12	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198876		0.505	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	HGNC	protein_coding	OTTHUMT00000052133.2	-	0	57|58	0	G	NM_015397		34093300|34093301	-1	tier1	-	no_errors	ENST00000361264	ensembl	human	known	74_37	silent|missense	27.54	50	19	SNP	1.000	T|A	TA	34093301	GG	TA	34093300	3	4	16	1	0	0	0	0	1	0	0	0	4272	1335	47	3	365	3	DCAF12	9	34093300	Missense_Mutation	DNP	GG	TCGA-IG-A3QL-01A-11D-A247-09	33036569	34093300	107120131	61	4711											
PTCH1	5727	genome.wustl.edu	37	chr9	98231241	98231241	+	Frame_Shift_Del	DEL	G	G	-																															gcacagagatctcggagcgcGgctcagcggtggtgtagtac																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:98231241delG	ENST00000331920.6	-	14	2341	c.2042delC	c.(2041-2043)ccgfs	p.P681fs	PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P530fs|PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P615fs|PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P680fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P530fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P615fs|PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P530fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	681					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P681L(3)|p.P680L(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CTCGGAGCGCGGCTCAGCGGT	0.622																																																	5	Substitution - Missense(5)	large_intestine(4)|skin(1)											145	135	138					9																	98231241		2203	4300	6503	SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2042delC	9.37:g.98231241delG	ENSP00000332353:p.Pro681fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.P681fs	ENST00000331920.6	37	c.2042	CCDS6714.1	9																																																																																			PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.622	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0	40	0	G	NM_000264		98231241	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_del	89.13	5	41	DEL	1.000	-	-	98231241	G	-	98231241	7	5	16	1	0	1	0	1	0	0	0	0	12772	1116	39	0	2341	0	PTCH1	9	98231241	Frame_Shift_Del	DEL	G	TCGA-IG-A3QL-01A-11D-A247-09	64137941	98231241	42982190	62	4712											
MAMDC4	158056	genome.wustl.edu	37	chr9	139749014	139749017	+	Frame_Shift_Del	DEL	GAGA	GAGA	-																															gccacatagccaccgactttGagacaggcctgggcccatgg																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	GAGA	GAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr9:139749014_139749017delGAGA	ENST00000317446.2	+	8	870_873	c.820_823delGAGA	c.(820-825)gagacafs	p.ET274fs	MAMDC4_ENST00000445819.1_Frame_Shift_Del_p.ET274fs|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CACCGACTTTGAGACAGGCCTGGG	0.696																																																	0																																										SO:0001589	frameshift_variant	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.820_823delGAGA	9.37:g.139749014_139749017delGAGA	ENSP00000319388:p.Glu274fs			Frame_Shift_Del	DEL	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.E274fs	ENST00000317446.2	37	c.820_823	CCDS7010.1	9																																																																																			MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.696	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3		0	18	0	GAGA	NM_206920		139749017	1	tier1		no_errors	ENST00000445819	ensembl	human	known	74_37	frame_shift_del	29.41	12	5	DEL	0.967:0.954:0.901:0.177	-	-	139749017	GAGA	-	139749014	7	5	16	1	0	1	0	1	0	0	0	0	9242	1291	45	0	850	0	MAMDC4	9	139749014	Frame_Shift_Del	DEL	GAGA	TCGA-IG-A3QL-01A-11D-A247-09	41517773	139749014	1464417	63	4713											
CELF2	10659	genome.wustl.edu	37	chr10	11299729	11299729	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaaaattgttcataggAatggtatcgaagaaatgtaa	18	10	10	3	1	1	2	1	0	0	2	2	5	1	3	0	2	0	3	0	2	8	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:11299729A>C	ENST00000379261.4	+	5	503	c.411A>C	c.(409-411)ggA>ggC	p.G137G	CELF2_ENST00000427450.1_Silent_p.G113G|CELF2_ENST00000354440.2_Silent_p.G113G|CELF2_ENST00000537122.1_Silent_p.G26G|CELF2_ENST00000417956.2_Silent_p.G113G|CELF2_ENST00000416382.2_Silent_p.G137G|CELF2_ENST00000354897.3_Silent_p.G113G|CELF2_ENST00000450189.1_Silent_p.G144G|CELF2_ENST00000315874.4_Silent_p.G113G|CELF2_ENST00000399850.3_Silent_p.G113G|CELF2_ENST00000608830.1_Silent_p.G113G|CELF2_ENST00000542579.1_Silent_p.G144G|CELF2_ENST00000609692.1_Silent_p.G113G	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	137	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TGTTCATAGGAATGGTATCGA	0.418																																																	0													90	90	90					10																	11299729		1940	4146	6086	SO:0001819	synonymous_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.411A>C	10.37:g.11299729A>C			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.G144	ENST00000379261.4	37	c.432	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000048740		0.418	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0	45	0	A			11299729	1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	34.69	32	17	SNP	1.000	C	C	11299729	A	C	11299729	2	2	16	1	0	0	0	0	0	0	0	1	3223	233	9	4		4	CELF2	10	11299729	Silent	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09		11299729	124235018	64	4714											
NUDT5	11164	genome.wustl.edu	37	chr10	12209761	12209761	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtttcagtgctagagcGtaggaatagaccctggcgtc	9	10	13	9	2	1	2	1	0	0	2	2	3	1	3	1	2	2	4	1	2	4	4	rs148632115		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:12209761G>A	ENST00000491614.1	-	10	995	c.600C>T	c.(598-600)taC>taT	p.Y200Y	NUDT5_ENST00000378937.3_Silent_p.Y213Y|NUDT5_ENST00000537776.1_Silent_p.Y200Y|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378952.3_5'UTR|SEC61A2_ENST00000304267.8_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	200					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GTGCTAGAGCGTAGGAATAGA	0.433																																																	0								G	,	0,4406		0,0,2203	163	148	153		,600	-7.7	0.4	10	dbSNP_134	153	4,8596	3.0+/-9.4	0,4,4296	no	intron,coding-synonymous	NUDT5,SEC61A2	NM_001142627.1,NM_014142.2	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	,200/220	12209761	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"Nudix motif containing"	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.600C>T	10.37:g.12209761G>A			A8K516|Q6IAG0|Q9UH49	Silent	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.A418	ENST00000491614.1	37	c.1254	CCDS7089.1	10																																																																																			SEC61A2	-	pirsf_SecY/SEC61-alpha	ENSG00000065665		0.433	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046811.1	-	0	29	0	G			12209761	1	tier1	rs148632115	no_errors	ENST00000475268	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.690	A	A	12209761	G	A	12209761	2	1	16	1	0	0	0	0	0	0	0	1	10781	1140	40	1		1	NUDT5	10	12209761	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	910032	12209761	123324986	65	4715											
MYO3A	53904	genome.wustl.edu	37	chr10	26417469	26417469	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtttgcatgggaacaggTaagtctaagtacttactata	12	14	10	5	0	1	0	0	0	1	0	1	1	1	1	0	2	4	4	0	2	7	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:26417469T>A	ENST00000265944.5	+	20	2428		c.e20+2		MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA						ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGGAACAGGTAAGTCTAAGT	0.323																																																	0													57	54	55					10																	26417469		2203	4300	6503	SO:0001630	splice_region_variant	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2262+2T>A	10.37:g.26417469T>A			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Splice_Site	SNP	-	e18+2	ENST00000265944.5	37	c.2262+2	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	T	26.6	4.757520	0.89843	.	.	ENSG00000095777	ENST00000265944	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3A	26457475	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	.	MYO3A	-	-	ENSG00000095777		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0	26	0	T	NM_017433	Intron	26417469	1	tier1	-	no_errors	ENST00000265944	ensembl	human	known	74_37	splice_site	94.12	2	32	SNP	1.000	A	A	26417469	T	A	26417469	5	1	16	1	0	0	0	0	0	0	1	0	10114	1652	57	5	2334	5	MYO3A	10	26417469	Splice_Site	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	14207708	26417469	109117278	66	4716											
CYP2C9	1559	genome.wustl.edu	37	chr10	96702021	96702021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgacgctgcggaattttgGgatggggaagaggagcattg	10	9	17	5	2	0	2	0	1	0	1	0	6	0	6	0	5	2	2	0	5	2	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:96702021G>T	ENST00000260682.6	+	3	416	c.404G>T	c.(403-405)gGg>gTg	p.G135V	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	135					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CGGAATTTTGGGATGGGGAAG	0.498																																					Ovarian(54;1266 1406 16072 35076)												0													138	130	133					10																	96702021		2203	4298	6501	SO:0001583	missense	0			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.404G>T	10.37:g.96702021G>T	ENSP00000260682:p.Gly135Val		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G135V	ENST00000260682.6	37	c.404	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	20.4	3.983910	0.74474	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.12672	2.66	3.54	3.54	0.40534	.	0.000000	0.64402	U	0.000001	T	0.46983	0.1421	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.62676	-0.6804	10	0.87932	D	0	.	12.9354	0.58311	0.0:0.0:1.0:0.0	.	135;135;135	Q5VX92;P11712;Q8WW80	.;CP2C9_HUMAN;.	V	135	ENSP00000260682:G135V	ENSP00000260682:G135V	G	+	2	0	CYP2C9	96692011	1.000000	0.71417	0.976000	0.42696	0.957000	0.61999	8.053000	0.89449	1.950000	0.56595	0.484000	0.47621	GGG	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138109		0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	-	0	84	0	G	NM_000771		96702021	1	tier1	-	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	22.22	70	20	SNP	1.000	T	T	96702021	G	T	96702021	3	4	16	1	0	0	0	0	1	0	0	0	4177	1232	43	3	414	3	CYP2C9	10	96702021	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	70284552	96702021	38832726	67	4717											
PSTK	118672	genome.wustl.edu	37	chr10	124740046	124740046	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagcgacgggccgcggaaAcgaggcctctgcgtcctctg	6	5	16	14	6	2	0	0	0	2	0	3	3	3	1	3	4	3	1	3	4	1	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:124740046A>T	ENST00000368887.3	+	1	491	c.51A>T	c.(49-51)aaA>aaT	p.K17N	PSTK_ENST00000405485.1_Missense_Mutation_p.K17N	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	17					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GGCCGCGGAAACGAGGCCTCT	0.692											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.51A>T	10.37:g.124740046A>T	ENSP00000357882:p.Lys17Asn	1536	Q6ZSS9	Missense_Mutation	SNP	pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk	p.K17N	ENST00000368887.3	37	c.51	CCDS7633.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.99|13.99	2.401197|2.401197	0.42613|0.42613	.|.	.|.	ENSG00000179988|ENSG00000179988	ENST00000368887;ENST00000405485|ENST00000406217	T;T|.	0.48836|.	0.89;0.8|.	4.31|4.31	1.33|1.33	0.21861|0.21861	.|.	0.491185|.	0.20500|.	N|.	0.091103|.	T|T	0.35158|0.35158	0.0922|0.0922	L|L	0.39397|0.39397	1.21|1.21	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.12156|.	0.007|.	T|T	0.24799|0.24799	-1.0150|-1.0150	10|5	0.59425|.	D|.	0.04|.	-6.6591|-6.6591	7.8226|7.8226	0.29296|0.29296	0.2995:0.0:0.7005:0.0|0.2995:0.0:0.7005:0.0	.|.	17|.	Q8IV42|.	PSTK_HUMAN|.	N|I	17|18	ENSP00000357882:K17N;ENSP00000384764:K17N|.	ENSP00000357882:K17N|.	K|N	+|+	3|2	2|0	PSTK|PSTK	124730036|124730036	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.446000|0.446000	0.21694|0.21694	0.088000|0.088000	0.17205|0.17205	-0.242000|-0.242000	0.12053|0.12053	AAA|AAC	PSTK	-	superfamily_P-loop_NTPase	ENSG00000179988		0.692	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTK	HGNC	protein_coding	OTTHUMT00000050811.1	-	0	12	0	A	NM_153336		124740046	1	tier1	-	no_errors	ENST00000368887	ensembl	human	known	74_37	missense	96.00	1	24	SNP	0.001	T	T	124740046	A	T	124740046	3	4	16	1	0	0	0	0	1	0	0	0	12762	40	2	5	53	5	PSTK	10	124740046	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	28038025	124740046	10794701	68	4718											
MTG1	92170	genome.wustl.edu	37	chr10	135212714	135212714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgattgggagaagccaccGctaccaccgaaaagaggttg	13	6	12	10	2	0	3	0	1	0	2	0	5	0	3	4	2	2	2	4	2	4	3	rs540025351		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr10:135212714G>T	ENST00000317502.6	+	5	454	c.404G>T	c.(403-405)cGc>cTc	p.R135L	MTG1_ENST00000477902.2_Missense_Mutation_p.R94L|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.R140L	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	135	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R135H(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AGAAGCCACCGCTACCACCGA	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)											69	60	63					10																	135212714		2203	4300	6503	SO:0001583	missense	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.404G>T	10.37:g.135212714G>T	ENSP00000323047:p.Arg135Leu		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	p.R135L	ENST00000317502.6	37	c.404	CCDS31320.1	10	.	.	.	.	.	.	.	.	.	.	g	13.69	2.312187	0.40895	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.14144	2.53;2.53;2.53	4.58	3.68	0.42216	.	0.240601	0.43110	N	0.000607	T	0.37100	0.0991	M	0.87180	2.865	0.80722	D	1	D;P	0.59357	0.985;0.932	P;P	0.62560	0.904;0.621	T	0.33701	-0.9858	10	0.87932	D	0	0.1033	10.751	0.46209	0.096:0.0:0.904:0.0	.	135;135	E7EVK2;Q9BT17	.;MTG1_HUMAN	L	140;135;135;94	ENSP00000436767:R140L;ENSP00000323047:R135L;ENSP00000393480:R135L	ENSP00000323047:R135L	R	+	2	0	AL360181.1;MTG1	135062704	1.000000	0.71417	0.998000	0.56505	0.089000	0.18198	5.746000	0.68681	1.060000	0.40578	-0.158000	0.13435	CGC	MTG1	-	superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	ENSG00000148824		0.627	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	HGNC	protein_coding	OTTHUMT00000051166.1		0	42	0	G	NM_138384		135212714	1			no_errors	ENST00000317502	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	135212714	G	T	135212714	3	4	16	1	0	0	0	0	1	0	0	0	9964	1087	38	2	422	2	MTG1	10	135212714	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	10472668	135212714	322033	69	4719											
OR52N5	390075	genome.wustl.edu	37	chr11	5799447	5799447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagtgtggtagcataacGcaaagggtagcaaatggcta	13	8	15	5	1	0	1	0	1	0	0	0	1	0	1	0	4	3	6	0	4	6	4	rs372227128		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:5799447G>A	ENST00000317093.2	-	1	450	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R140C(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTAGCATAACGCAAAGGGTAG	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)						G	CYS/ARG	1,4255		0,1,2127	135	108	117		418	3.7	0	11		117	0,8180		0,0,4090	no	missense	OR52N5	NM_001001922.2	180	0,1,6217	AA,AG,GG		0.0,0.0235,0.0080	possibly-damaging	140/325	5799447	1,12435	2128	4090	6218	SO:0001583	missense	0			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"GPCR / Class A : Olfactory receptors"	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.418C>T	11.37:g.5799447G>A	ENSP00000322866:p.Arg140Cys		B9EH12|Q6IFG2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.R140C	ENST00000317093.2	37	c.418	CCDS31397.1	11	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489171	0.26686	2.35E-4	0.0	ENSG00000181009	ENST00000317093	T	0.00922	5.54	3.7	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27294	U	0.020040	T	0.01976	0.0062	M	0.84585	2.705	0.34128	D	0.664917	B	0.22983	0.078	B	0.18561	0.022	T	0.01940	-1.1243	10	0.72032	D	0.01	.	8.957	0.35823	0.0:0.0:0.6584:0.3416	.	140	Q8NH56	O52N5_HUMAN	C	140	ENSP00000322866:R140C	ENSP00000322866:R140C	R	-	1	0	OR52N5	5756023	0.000000	0.05858	0.045000	0.18777	0.717000	0.41224	0.438000	0.21559	2.066000	0.61787	0.494000	0.49563	CGT	OR52N5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181009		0.502	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1	-	0	25	0	G	NM_001001922		5799447	-1	tier1	-	no_errors	ENST00000317093	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.861	A	A	5799447	G	A	5799447	3	1	16	1	0	0	0	0	1	0	0	0	11169	1087	38	1	560	1	OR52N5	11	5799447	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		5799447	129207069	70	4720											
CALCB	797	genome.wustl.edu	37	chr11	15096326	15096326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggtcctgtaccaggcggGcagcctccaggcggcgccat	5	7	14	15	3	0	0	0	0	0	0	2	0	2	0	5	5	2	2	5	5	1	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:15096326G>C	ENST00000533448.1	+	2	173	c.62G>C	c.(61-63)gGc>gCc	p.G21A	CALCB_ENST00000324229.6_Missense_Mutation_p.G21A|CALCB_ENST00000523376.1_Missense_Mutation_p.G32A			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	21					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TACCAGGCGGGCAGCCTCCAG	0.602											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63	63	63					11																	15096326		2200	4294	6494	SO:0001583	missense	0				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.62G>C	11.37:g.15096326G>C	ENSP00000433490:p.Gly21Ala	700	A8K573|D3DQX4|Q569I0|Q9UCN9	Missense_Mutation	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.G21A	ENST00000533448.1	37	c.62	CCDS7820.1	11	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287326	0.23478	.	.	ENSG00000175868	ENST00000523376;ENST00000324229;ENST00000533448	T;T;T	0.22134	1.97;1.97;1.97	5.39	0.73	0.18271	.	0.504521	0.18619	N	0.135938	T	0.21022	0.0506	M	0.83953	2.67	0.26725	N	0.970708	P	0.43578	0.811	B	0.40602	0.334	T	0.18335	-1.0340	10	0.42905	T	0.14	-7.7768	0.4437	0.00490	0.2594:0.1988:0.339:0.2029	.	21	P10092	CALCB_HUMAN	A	32;21;21	ENSP00000428882:G32A;ENSP00000346017:G21A;ENSP00000433490:G21A	ENSP00000346017:G21A	G	+	2	0	CALCB	15052902	1.000000	0.71417	0.471000	0.27229	0.056000	0.15407	3.111000	0.50360	0.328000	0.23435	-0.175000	0.13238	GGC	CALCB	-	pfam_Procalcitonin/adrenomedullin	ENSG00000175868		0.602	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	-	0	37	0	G	NM_000728		15096326	1	tier1	-	no_errors	ENST00000324229	ensembl	human	known	74_37	missense	34.09	29	15	SNP	1.000	C	C	15096326	G	C	15096326	3	2	16	1	0	0	0	0	1	0	0	0	2583	1203	42	5	64	5	CALCB	11	15096326	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	9296879	15096326	119910190	71	4721											
ANO5	203859	genome.wustl.edu	37	chr11	22294478	22294478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagcttctaaagctcatagCataggtgtttggcaagacat	12	12	10	7	0	2	1	1	0	1	1	2	1	2	1	0	2	3	6	0	2	6	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:22294478C>T	ENST00000324559.8	+	19	2495	c.2178C>T	c.(2176-2178)agC>agT	p.S726S	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	726					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTCATAGCATAGGTGTTT	0.398																																																	0													160	153	156					11																	22294478		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2178C>T	11.37:g.22294478C>T				Silent	SNP	pfam_Anoctamin	p.S726	ENST00000324559.8	37	c.2178	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.398	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0	48	0	C	NM_213599		22294478	1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	24.07	41	13	SNP	1.000	T	T	22294478	C	T	22294478	2	4	16	1	0	0	0	0	0	0	0	1	700	709	25	3		3	ANO5	11	22294478	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	7198152	22294478	112712038	72	4722											
MPPED2	744	genome.wustl.edu	37	chr11	30439152	30439152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactgacctctgggtaggtTaaagccccatccattaaacc	12	9	8	12	0	1	2	0	1	1	1	2	2	2	2	5	2	2	2	5	2	5	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:30439152T>C	ENST00000358117.5	-	4	687	c.565A>G	c.(565-567)Aac>Gac	p.N189D	MPPED2_ENST00000448418.2_Missense_Mutation_p.N189D|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	189					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGGGTAGGTTAAAGCCCCAT	0.522																																																	0													94	84	87					11																	30439152		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.565A>G	11.37:g.30439152T>C	ENSP00000350833:p.Asn189Asp		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.N189D	ENST00000358117.5	37	c.565	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873801	0.91664	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.84660	-1.88;-1.88	5.78	5.78	0.91487	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	M	0.77616	2.38	0.80722	D	1	P;P	0.46952	0.887;0.522	P;B	0.50490	0.642;0.269	D	0.89384	0.3684	10	0.45353	T	0.12	-20.0832	16.1021	0.81178	0.0:0.0:0.0:1.0	.	189;189	Q15777;E9PB10	MPPD2_HUMAN;.	D	189	ENSP00000388258:N189D;ENSP00000350833:N189D	ENSP00000350833:N189D	N	-	1	0	MPPED2	30395728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.210000	0.71456	0.533000	0.62120	AAC	MPPED2	-	pfam_PEstase_dom	ENSG00000066382		0.522	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0	26	0	T	NM_001584		30439152	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	C	C	30439152	T	C	30439152	3	2	16	1	0	0	0	0	1	0	0	0	9780	1754	61	4	403	4	MPPED2	11	30439152	Missense_Mutation	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	8144674	30439152	104567364	73	4723											
GIF	2694	genome.wustl.edu	37	chr11	59612870	59612870	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaactctgggtctgggtActagtcccagctgtagccca	8	10	11	12	0	2	1	0	1	2	0	3	1	3	1	2	2	4	3	2	2	4	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:59612870A>T	ENST00000257248.2	-	1	104	c.57T>A	c.(55-57)agT>agA	p.S19R	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	19					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GGGTCTGGGTACTAGTCCCAG	0.547																																					NSCLC(53;1139 1245 16872 38474 42853)												0													162	158	159					11																	59612870		2201	4295	6496	SO:0001583	missense	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.57T>A	11.37:g.59612870A>T	ENSP00000257248:p.Ser19Arg		B2RAN8|B4DVZ1	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk	p.S19R	ENST00000257248.2	37	c.57	CCDS7977.1	11	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403010	0.62288	.	.	ENSG00000134812	ENST00000257248	T	0.37235	1.21	5.72	-4.54	0.03452	.	0.827437	0.11281	N	0.580342	T	0.31040	0.0784	L	0.51422	1.61	0.09310	N	0.999999	P;P	0.44946	0.846;0.846	P;B	0.46885	0.53;0.444	T	0.25916	-1.0118	10	0.51188	T	0.08	-1.8853	5.0324	0.14417	0.1752:0.1375:0.5517:0.1355	.	19;19	B4DVY6;P27352	.;IF_HUMAN	R	19	ENSP00000257248:S19R	ENSP00000257248:S19R	S	-	3	2	GIF	59369446	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.036000	0.12185	-0.363000	0.08101	-0.441000	0.05720	AGT	GIF	-	pfam_Cbl-bd_transpt_euk	ENSG00000134812		0.547	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	-	0	25	0	A	NM_005142		59612870	-1	tier1	-	no_errors	ENST00000257248	ensembl	human	known	74_37	missense	23.33	22	7	SNP	0.000	T	T	59612870	A	T	59612870	3	4	16	1	0	0	0	0	1	0	0	0	6402	388	14	5	1232	5	GIF	11	59612870	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	29173718	59612870	75393646	74	4724											
AHNAK	79026	genome.wustl.edu	37	chr11	62292799	62292799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttgaagccaggcatgctGaatttgggcattttcacttt	8	15	9	9	0	1	2	1	2	0	0	1	2	1	2	2	2	2	3	2	2	2	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:62292799G>A	ENST00000378024.4	-	5	9364	c.9090C>T	c.(9088-9090)ttC>ttT	p.F3030F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3030					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGGCATGCTGAATTTGGGCA	0.532																																																	0													197	205	203					11																	62292799		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9090C>T	11.37:g.62292799G>A			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F3030	ENST00000378024.4	37	c.9090	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.532	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	98	0	G	NM_024060		62292799	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	24.32	84	27	SNP	1.000	A	A	62292799	G	A	62292799	2	1	16	1	0	0	0	0	0	0	0	1	414	1281	45	3		3	AHNAK	11	62292799	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	2679929	62292799	72713717	75	4725											
C2CD3	26005	genome.wustl.edu	37	chr11	73796763	73796763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacagtgctgagtcaccaaGttacatgtgaactcaacgtg	12	10	9	10	1	2	2	2	2	0	0	2	2	2	2	1	0	5	2	1	0	5	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:73796763G>T	ENST00000334126.7	-	21	4036	c.3810C>A	c.(3808-3810)aaC>aaA	p.N1270K	C2CD3_ENST00000313663.7_Missense_Mutation_p.N1270K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1270	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAGTCACCAAGTTACATGTGA	0.498																																																	0													87	77	80					11																	73796763		2200	4293	6493	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3810C>A	11.37:g.73796763G>T	ENSP00000334379:p.Asn1270Lys		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.N1270K	ENST00000334126.7	37	c.3810		11	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769275	0.69992	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.39056	1.1;1.1;1.1	5.95	-0.126	0.13515	.	0.145674	0.64402	D	0.000010	T	0.49508	0.1561	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.60886	0.88	T	0.45086	-0.9285	10	0.54805	T	0.06	-5.1978	8.0264	0.30440	0.351:0.1086:0.5404:0.0	.	1270	Q4AC94-1	.	K	1270;1270;1270;78	ENSP00000334379:N1270K;ENSP00000323339:N1270K;ENSP00000388750:N78K	ENSP00000323339:N1270K	N	-	3	2	C2CD3	73474411	0.998000	0.40836	0.994000	0.49952	0.778000	0.44026	0.420000	0.21263	0.062000	0.16340	-0.345000	0.07892	AAC	C2CD3	-	superfamily_C2_dom,smart_C2_dom	ENSG00000168014		0.498	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding			0	23	0	G	NM_015531		73796763	-1			no_errors	ENST00000334126	ensembl	human	known	74_37	missense	11.11	31	4	SNP	0.946	T	T	73796763	G	T	73796763	3	4	16	1	0	0	0	0	1	0	0	0	2161	1020	36	3	2125	3	C2CD3	11	73796763	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	11503964	73796763	61209753	76	4726											
MAML2	84441	genome.wustl.edu	37	chr11	96074769	96074769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagtggtggcagcagtGgcggtggccttggtgtgttt	3	13	19	6	1	0	0	0	0	0	0	0	0	0	0	1	6	1	5	1	6	1	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:96074769G>A	ENST00000524717.1	-	1	1575	c.291C>T	c.(289-291)gcC>gcT	p.A97A	MIR1260B_ENST00000582890.1_RNA	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	97					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				tggcagcagtggcggtggcct	0.647			T	"MECT1, CRTC3"	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													13	19	17					11																	96074769		1885	3900	5785	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.291C>T	11.37:g.96074769G>A		1317	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.A97	ENST00000524717.1	37	c.291	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.647	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0	31	0	G			96074769	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	56.86	22	29	SNP	0.010	A	A	96074769	G	A	96074769	2	1	16	1	0	0	0	0	0	0	0	1	9244	1335	47	3		3	MAML2	11	96074769	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	22278006	96074769	38931747	77	4727											
DRD2	1813	genome.wustl.edu	37	chr11	113283425	113283425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttggggtggtctttggCatgcccattcttctctggtt	4	17	11	9	0	4	0	0	0	4	0	5	0	4	0	1	5	1	2	1	5	1	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:113283425C>G	ENST00000362072.3	-	7	1335	c.991G>C	c.(991-993)Gcc>Ccc	p.A331P	DRD2_ENST00000346454.3_Missense_Mutation_p.A302P|DRD2_ENST00000542968.1_Missense_Mutation_p.A331P|DRD2_ENST00000538967.1_Missense_Mutation_p.A333P|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Missense_Mutation_p.A333P|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000544518.1_Missense_Mutation_p.A330P	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	331	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGTCTTTGGCATGCCCATTC	0.592																																																	0													152	127	136					11																	113283425		2201	4296	6497	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.991G>C	11.37:g.113283425C>G	ENSP00000354859:p.Ala331Pro		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.A333P	ENST00000362072.3	37	c.997	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629728	0.28978	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72725	-0.64;-0.68;-0.62;-0.66;-0.62;-0.64	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.141974	0.64402	D	0.000004	T	0.44222	0.1283	N	0.02334	-0.595	0.46521	D	0.999085	B;B;B	0.14805	0.002;0.003;0.011	B;B;B	0.21151	0.008;0.007;0.033	T	0.44190	-0.9344	10	0.24483	T	0.36	.	10.1544	0.42814	0.0:0.7916:0.1376:0.0708	.	330;302;331	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	P	333;302;331;330;331;333	ENSP00000347474:A333P;ENSP00000278597:A302P;ENSP00000354859:A331P;ENSP00000441068:A330P;ENSP00000442172:A331P;ENSP00000438215:A333P	ENSP00000278597:A302P	A	-	1	0	DRD2	112788635	0.962000	0.33011	0.998000	0.56505	0.679000	0.39708	1.581000	0.36558	2.837000	0.97791	0.655000	0.94253	GCC	DRD2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt	ENSG00000149295		0.592	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0	110	0	C	NM_000795		113283425	-1	tier1	-	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	28.49	123	49	SNP	0.970	G	G	113283425	C	G	113283425	3	3	16	1	0	0	0	0	1	0	0	0	4771	710	25	5	348	5	DRD2	11	113283425	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	17208656	113283425	21723091	78	4728											
OR8D4	338662	genome.wustl.edu	37	chr11	123777707	123777707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttattaaactctcctgctCcagcacttatattgatgagc	10	15	5	11	0	2	2	0	2	2	0	4	2	3	2	2	0	4	2	2	0	5	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:123777707C>T	ENST00000321355.2	+	1	599	c.569C>T	c.(568-570)tCc>tTc	p.S190F		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S190Y(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CTCTCCTGCTCCAGCACTTAT	0.373																																																	1	Substitution - Missense(1)	lung(1)											166	173	170					11																	123777707		2202	4299	6501	SO:0001583	missense	0			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.569C>T	11.37:g.123777707C>T	ENSP00000325381:p.Ser190Phe		Q6IFE9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S190F	ENST00000321355.2	37	c.569	CCDS31698.1	11	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615166	0.28712	.	.	ENSG00000181518	ENST00000321355	T	0.00253	8.43	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.152045	0.30602	N	0.009273	T	0.00967	0.0032	H	0.94345	3.525	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.30966	-0.9960	10	0.87932	D	0	.	18.4525	0.90709	0.0:1.0:0.0:0.0	.	190	Q8NGM9	OR8D4_HUMAN	F	190	ENSP00000325381:S190F	ENSP00000325381:S190F	S	+	2	0	OR8D4	123282917	0.000000	0.05858	0.970000	0.41538	0.233000	0.25261	0.091000	0.15046	2.642000	0.89623	0.655000	0.94253	TCC	OR8D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181518		0.373	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1		0	38	0	C	NM_001005197		123777707	1			no_errors	ENST00000321355	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.006	T	T	123777707	C	T	123777707	3	4	16	1	0	0	0	0	1	0	0	0	11272	855	30	3	571	3	OR8D4	11	123777707	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	10494282	123777707	11228809	79	4729											
FLI1	2313	genome.wustl.edu	37	chr11	128651913	128651913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctcacgattgagtgtcaAagaaggtaagtttgttcttt	11	15	9	6	1	3	2	2	1	1	1	4	3	4	2	1	1	0	3	1	1	3	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr11:128651913A>C	ENST00000527786.2	+	5	1139	c.650A>C	c.(649-651)aAa>aCa	p.K217T	FLI1_ENST00000534087.2_Missense_Mutation_p.K184T|FLI1_ENST00000281428.8_Missense_Mutation_p.K151T|FLI1_ENST00000525560.1_Missense_Mutation_p.K24T|FLI1_ENST00000344954.6_Missense_Mutation_p.K184T	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	217					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TTGAGTGTCAAAGAAGGTAAG	0.423			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	0													149	141	144					11																	128651913		1900	4130	6030	SO:0001583	missense	0			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.650A>C	11.37:g.128651913A>C	ENSP00000433488:p.Lys217Thr		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K217T	ENST00000527786.2	37	c.650	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	A	15.76	2.927706	0.52759	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.26957	1.7;2.41;2.4;2.41;2.42	6.07	6.07	0.98685	.	0.637386	0.17520	N	0.171299	T	0.32255	0.0823	M	0.61703	1.905	0.80722	D	1	B;B;B	0.15930	0.012;0.015;0.001	B;B;B	0.24701	0.055;0.003;0.018	T	0.04153	-1.0973	10	0.33141	T	0.24	.	16.2903	0.82747	1.0:0.0:0.0:0.0	.	217;24;151	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	T	24;184;217;184;151	ENSP00000437124:K24T;ENSP00000339627:K184T;ENSP00000399985:K217T;ENSP00000432950:K184T;ENSP00000281428:K151T	ENSP00000281428:K151T	K	+	2	0	FLI1	128157123	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	7.375000	0.79646	2.326000	0.78906	0.533000	0.62120	AAA	FLI1	-	NULL	ENSG00000151702		0.423	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	HGNC	protein_coding	OTTHUMT00000386226.2	-	0	53	0	A	NM_002017		128651913	1	tier1	-	no_errors	ENST00000527786	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	C	C	128651913	A	C	128651913	3	2	16	1	0	0	0	0	1	0	0	0	5946	14	1	4	668	4	FLI1	11	128651913	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	4874206	128651913	6354603	80	4730											
LRRC23	10233	genome.wustl.edu	37	chr12	7016543	7016543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagcctgcacacagtggaGcttcgggggaaccagctgga	10	6	14	11	1	1	0	1	0	0	0	2	3	1	3	2	4	5	3	2	4	1	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr12:7016543G>A	ENST00000007969.8	+	5	775	c.555G>A	c.(553-555)gaG>gaA	p.E185E	LRRC23_ENST00000443597.2_Silent_p.E185E|LRRC23_ENST00000429740.1_Intron|LRRC23_ENST00000433346.1_Silent_p.E185E|LRRC23_ENST00000436789.1_Silent_p.E185E|LRRC23_ENST00000323702.5_Silent_p.E185E	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	185										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ACACAGTGGAGCTTCGGGGGA	0.567																																																	0													127	123	124					12																	7016543		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.555G>A	12.37:g.7016543G>A			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Silent	SNP	pfam_Leu-rich_rpt	p.E185	ENST00000007969.8	37	c.555	CCDS8569.1	12																																																																																			LRRC23	-	NULL	ENSG00000010626		0.567	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC23	HGNC	protein_coding	OTTHUMT00000345214.1	-	0	30	0	G	NM_006992		7016543	1	tier1	-	no_errors	ENST00000007969	ensembl	human	known	74_37	silent	21.43	66	18	SNP	1.000	A	A	7016543	G	A	7016543	2	1	16	1	0	0	0	0	0	0	0	1	9013	962	34	3		3	LRRC23	12	7016543	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		7016543	126835352	81	4731											
TAS2R8	50836	genome.wustl.edu	37	chr12	10959271	10959271	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagaaaatagaagacattAaggcaggtggtaatccacat	17	9	9	6	0	1	3	1	0	0	3	2	3	2	3	1	3	0	2	1	3	6	4			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr12:10959271A>G	ENST00000240615.2	-	1	621	c.309T>C	c.(307-309)ctT>ctC	p.L103L		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	103					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGAAGACATTAAGGCAGGTGG	0.383																																																	0													86	86	86					12																	10959271		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.309T>C	12.37:g.10959271A>G			Q4KN29|Q645Y2	Silent	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L103	ENST00000240615.2	37	c.309	CCDS8632.1	12																																																																																			TAS2R8	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121314		0.383	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R8	HGNC	protein_coding	OTTHUMT00000399932.1	-	0	22	0	A			10959271	-1	tier1	-	no_errors	ENST00000240615	ensembl	human	known	74_37	silent	49.28	35	34	SNP	0.021	G	G	10959271	A	G	10959271	2	3	16	1	0	0	0	0	0	0	0	1	15634	349	13	4		4	TAS2R8	12	10959271	Silent	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	3942728	10959271	122892624	82	4732											
SCN8A	6334	genome.wustl.edu	37	chr12	52159718	52159718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgagtgttgtgcggggaGtggattgagaccatgtggga	7	12	18	4	2	0	1	0	1	0	1	1	6	0	4	1	4	1	1	1	4	0	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr12:52159718G>C	ENST00000354534.6	+	16	2986	c.2808G>C	c.(2806-2808)gaG>gaC	p.E936D	SCN8A_ENST00000545061.1_Missense_Mutation_p.E936D|SCN8A_ENST00000550891.1_Missense_Mutation_p.E936D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	936					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TGTGCGGGGAGTGGATTGAGA	0.498																																																	0													226	232	230					12																	52159718		2202	4299	6501	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2808G>C	12.37:g.52159718G>C	ENSP00000346534:p.Glu936Asp		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E936D	ENST00000354534.6	37	c.2808	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411812	0.62511	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	4.56	1.79	0.24919	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.84683	2.71	0.49051	D	0.999747	D;D;D	0.89917	0.999;0.974;1.0	D;D;D	0.87578	0.995;0.969;0.998	D	0.99107	1.0845	10	0.87932	D	0	.	9.866	0.41142	0.3537:0.0:0.6462:0.0	.	936;936;936	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	D	936;936;936;936;849	ENSP00000448415:E936D;ENSP00000346534:E936D;ENSP00000440360:E936D;ENSP00000347255:E936D	ENSP00000346534:E936D	E	+	3	2	SCN8A	50445985	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	0.258000	0.18387	0.433000	0.26313	0.563000	0.77884	GAG	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.498	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	105	0	G	NM_014191		52159718	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	44.86	59	48	SNP	1.000	C	C	52159718	G	C	52159718	3	2	16	1	0	0	0	0	1	0	0	0	13969	1020	36	5	2866	5	SCN8A	12	52159718	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	41200447	52159718	81692177	83	4733											
FNDC3A	22862	genome.wustl.edu	37	chr13	49762729	49762729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatccaggctgtttctatcGtttacgagtttactgcatca	9	15	8	9	2	2	0	1	0	1	0	4	2	3	0	1	1	3	5	1	1	4	6	rs367719937		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr13:49762729G>A	ENST00000492622.2	+	17	2209	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R579H|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R635H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	635	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTTTCTATCGTTTACGAGTT	0.403													G|||	1	0.000199681	0	0	5008	,	,		21144	0		0.001	False		,,,				2504	0																0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	344	308	320		1904,1736	5.7	1	13		320	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FNDC3A	NM_001079673.1,NM_014923.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	635/1199,579/1143	49762729	1,13005	2203	4300	6503	SO:0001583	missense	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.1904G>A	13.37:g.49762729G>A	ENSP00000417257:p.Arg635His		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R635H	ENST00000492622.2	37	c.1904	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463278	0.63513	0.0	1.16E-4	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.57595	0.39;0.39;0.39	5.72	5.72	0.89469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.66848	0.2831	M	0.79475	2.455	0.58432	D	0.999997	D;B;P	0.55385	0.971;0.366;0.721	P;B;B	0.52066	0.689;0.135;0.304	T	0.66364	-0.5942	10	0.37606	T	0.19	-7.1642	18.8544	0.92246	0.0:0.0:1.0:0.0	.	579;635;635	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	H	635;571;635;579	ENSP00000417257:R635H;ENSP00000441831:R635H;ENSP00000381362:R579H	ENSP00000338579:R571H	R	+	2	0	FNDC3A	48660730	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	5.473000	0.66774	2.698000	0.92095	0.591000	0.81541	CGT	FNDC3A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000102531		0.403	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	-	0	61	0	G	NM_014923		49762729	1	tier1	-	no_errors	ENST00000492622	ensembl	human	known	74_37	missense	54.22	38	45	SNP	1.000	A	A	49762729	G	A	49762729	3	1	16	1	0	0	0	0	1	0	0	0	5991	1145	40	1	1977	1	FNDC3A	13	49762729	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		49762729	65407149	84	4734											
SETDB2	83852	genome.wustl.edu	37	chr13	50050669	50050669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagttgtagactttagagaAaaagactcatcttcgaattt	16	13	7	5	1	2	3	1	0	1	3	3	5	2	3	0	0	0	2	0	0	6	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr13:50050669A>T	ENST00000317257.8	+	7	1224	c.399A>T	c.(397-399)gaA>gaT	p.E133D	SETDB2_ENST00000258672.5_Missense_Mutation_p.E121D|SETDB2_ENST00000354234.4_Missense_Mutation_p.E121D	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	133					chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACTTTAGAGAAAAAGACTCAT	0.338																																																	0													84	91	89					13																	50050669		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.399A>T	13.37:g.50050669A>T	ENSP00000326477:p.Glu133Asp		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.E133D	ENST00000317257.8	37	c.399	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	A	4.747	0.138877	0.09083	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;T	0.86366	-2.11;-2.11;1.2	5.87	0.209	0.15226	.	1.087730	0.06890	N	0.804120	T	0.80330	0.4603	L	0.59436	1.845	0.09310	N	1	P;B;B	0.38504	0.634;0.015;0.009	B;B;B	0.33620	0.167;0.009;0.004	T	0.64676	-0.6351	10	0.15499	T	0.54	.	5.1091	0.14800	0.5086:0.153:0.3384:0.0	.	133;121;133	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	D	121;133;121	ENSP00000346175:E121D;ENSP00000326477:E133D;ENSP00000258672:E121D	ENSP00000258672:E121D	E	+	3	2	SETDB2	48948670	0.000000	0.05858	0.014000	0.15608	0.289000	0.27227	-0.927000	0.03984	0.501000	0.28013	0.482000	0.46254	GAA	SETDB2	-	NULL	ENSG00000136169		0.338	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0	22	0	A	NM_031915		50050669	1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	45.00	11	9	SNP	0.051	T	T	50050669	A	T	50050669	3	4	16	1	0	0	0	0	1	0	0	0	14184	11	1	5	421	5	SETDB2	13	50050669	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	287940	50050669	65119209	85	4735											
JUB	84962	genome.wustl.edu	37	chr14	23450545	23450545	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgaaaggacctggtggctCctccagacccgacggctcaa	11	5	11	14	3	1	1	1	0	0	1	3	4	3	2	4	4	1	2	4	4	3	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:23450545C>A	ENST00000262713.2	-	1	1306	c.931G>T	c.(931-933)Gag>Tag	p.E311*	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.E311*|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	311	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCTGGTGGCTCCTCCAGACCC	0.672																																																	0													22	28	26					14																	23450545		2194	4295	6489	SO:0001587	stop_gained	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.931G>T	14.37:g.23450545C>A	ENSP00000262713:p.Glu311*		A8MX18|D3DS37	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E311*	ENST00000262713.2	37	c.931	CCDS9581.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.796790|5.796790	0.96952|0.96952	.|.	.|.	ENSG00000129474|ENSG00000129474	ENST00000262713;ENST00000361265|ENST00000553736	.|.	.|.	.|.	5.25|5.25	4.3|4.3	0.51218|0.51218	.|.	0.371268|.	0.23065|.	N|.	0.052338|.	.|T	.|0.53094	.|0.1775	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.61907	.|-0.6966	.|3	0.08599|.	T|.	0.76|.	.|.	10.3046|10.3046	0.43672|0.43672	0.1966:0.8034:0.0:0.0|0.1966:0.8034:0.0:0.0	.|.	.|.	.|.	.|.	X|V	311|84	.|.	ENSP00000262713:E311X|.	E|G	-|-	1|2	0|0	JUB|JUB	22520385|22520385	0.921000|0.921000	0.31238|0.31238	0.997000|0.997000	0.53966|0.53966	0.729000|0.729000	0.41735|0.41735	1.759000|1.759000	0.38420|0.38420	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GAG|GGA	AJUBA	-	NULL	ENSG00000129474		0.672	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	-	0	11	0	C			23450545	-1	tier1	-	no_errors	ENST00000262713	ensembl	human	known	74_37	nonsense	87.50	2	14	SNP	1.000	A	A	23450545	C	A	23450545	4	1	16	1	0	0	0	0	0	1	0	0	7995	864	30	3	717	3	JUB	14	23450545	Nonsense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09		23450545	83898995	86	4736											
ARID4A	5926	genome.wustl.edu	37	chr14	58831580	58831580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaccaatgcatccaacaaCtgactagtgaaagatttgat	17	9	6	9	0	0	4	0	3	0	1	1	4	1	4	2	0	4	1	2	0	6	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:58831580C>T	ENST00000355431.3	+	20	3146	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	ARID4A_ENST00000348476.3_Silent_p.L925L|ARID4A_ENST00000395168.3_Silent_p.L925L|ARID4A_ENST00000431317.2_Silent_p.L925L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	925					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CATCCAACAACTGACTAGTGA	0.383																																																	0													65	65	65					14																	58831580		2203	4300	6503	SO:0001819	synonymous_variant	0			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2773C>T	14.37:g.58831580C>T			Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.L925	ENST00000355431.3	37	c.2773	CCDS9732.1	14																																																																																			ARID4A	-	NULL	ENSG00000032219		0.383	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	-	0	22	0	C	NM_023001		58831580	1	tier1	-	no_errors	ENST00000355431	ensembl	human	known	74_37	silent	83.33	3	15	SNP	0.000	T	T	58831580	C	T	58831580	2	4	16	1	0	0	0	0	0	0	0	1	919	564	20	3		3	ARID4A	14	58831580	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	35381035	58831580	48517960	87	4737											
RTN1	6252	genome.wustl.edu	37	chr14	60212626	60212626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgatctgaggagccctgCgctgttcttcagagagatca	8	11	13	9	1	4	4	2	2	2	2	4	6	4	5	1	2	2	2	1	2	0	2	rs77180956	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:60212626C>G	ENST00000267484.5	-	2	1150	c.815G>C	c.(814-816)cGc>cCc	p.R272P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	272					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGAGCCCTGCGCTGTTCTTC	0.463																																																	0													137	132	134					14																	60212626		2203	4300	6503	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.815G>C	14.37:g.60212626C>G	ENSP00000267484:p.Arg272Pro		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R272P	ENST00000267484.5	37	c.815	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	9.018	0.984266	0.18889	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22743	1.94	5.53	-4.01	0.04045	.	0.569080	0.18052	N	0.153259	T	0.07413	0.0187	N	0.14661	0.345	0.09310	N	1	B	0.31100	0.308	B	0.29942	0.109	T	0.17806	-1.0357	10	0.37606	T	0.19	.	0.7013	0.00908	0.2293:0.136:0.2366:0.3981	.	272	Q16799	RTN1_HUMAN	P	272;198	ENSP00000267484:R272P	ENSP00000267484:R272P	R	-	2	0	RTN1	59282379	0.000000	0.05858	0.001000	0.08648	0.546000	0.35178	-0.128000	0.10531	-0.248000	0.09583	-0.661000	0.03856	CGC	RTN1	-	NULL	ENSG00000139970		0.463	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0	37	0	C			60212626	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	60.47	16	26	SNP	0.001	G	G	60212626	C	G	60212626	3	3	16	1	0	0	0	0	1	0	0	0	13770	768	27	5	1612	5	RTN1	14	60212626	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	1381046	60212626	47136914	88	4738											
JAG2	3714	genome.wustl.edu	37	chr14	105609908	105609908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccccgctgggtgatggcgGccacgatggcgtgggccgcg	3	6	18	14	6	0	1	0	1	0	0	1	2	1	1	4	5	0	1	4	5	0	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr14:105609908G>A	ENST00000331782.3	-	25	3555	c.3152C>T	c.(3151-3153)gCc>gTc	p.A1051V	JAG2_ENST00000347004.2_Missense_Mutation_p.A1013V	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1051					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGTGATGGCGGCCACGATGGC	0.662																																																	0													39	34	35					14																	105609908		2193	4294	6487	SO:0001583	missense	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3152C>T	14.37:g.105609908G>A	ENSP00000328169:p.Ala1051Val		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.A1051V	ENST00000331782.3	37	c.3152	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497210	0.44352	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86562	-2.14;-2.14	4.69	2.44	0.29823	.	0.566985	0.18579	N	0.137114	T	0.79125	0.4393	L	0.36672	1.1	0.19945	N	0.999947	P;B	0.35944	0.529;0.394	B;B	0.36845	0.234;0.118	T	0.71928	-0.4444	10	0.62326	D	0.03	.	6.6631	0.23024	0.0:0.1326:0.4256:0.4418	.	1013;1051	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	V	1051;1013	ENSP00000328169:A1051V;ENSP00000328566:A1013V	ENSP00000328169:A1051V	A	-	2	0	JAG2	104680953	0.000000	0.05858	0.898000	0.35279	0.581000	0.36288	0.435000	0.21510	2.164000	0.68074	0.313000	0.20887	GCC	JAG2	-	NULL	ENSG00000184916		0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0	42	0	G			105609908	-1	tier1	-	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.372	A	A	105609908	G	A	105609908	3	1	16	1	0	0	0	0	1	0	0	0	7962	1203	42	3	572	3	JAG2	14	105609908	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	45397282	105609908	1739632	89	4739											
CATSPER2	117155	genome.wustl.edu	37	chr15	43931876	43931876	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaccaaaataataatttGaatttgacggaattgtgcaa	17	11	8	5	1	0	2	0	2	0	0	0	4	0	4	1	2	1	1	1	2	7	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:43931876G>A	ENST00000321596.5	-	6	881	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000381761.1_Nonsense_Mutation_p.Q234*|CATSPER2_ENST00000354127.4_Nonsense_Mutation_p.Q228*|CATSPER2_ENST00000355438.2_Nonsense_Mutation_p.Q228*|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000396879.1_Nonsense_Mutation_p.Q228*			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	228					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATAATAATTTGAATTTGACGG	0.478																																																	0													120	134	129					15																	43931876		2199	4297	6496	SO:0001587	stop_gained	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.682C>T	15.37:g.43931876G>A	ENSP00000321463:p.Gln228*		Q8NHT9|Q96P54|Q96P55	Nonsense_Mutation	SNP	pfam_Ion_trans_dom	p.Q228*	ENST00000321596.5	37	c.682	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796312	0.50208	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	.	.	.	3.89	2.93	0.34026	.	0.284169	0.22592	N	0.058062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	8.5118	0.33222	0.0:0.0:0.7572:0.2428	.	.	.	.	X	228;228;234;228;228;228	.	ENSP00000299989:Q228X	Q	-	1	0	CATSPER2	41719168	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	2.346000	0.44027	0.913000	0.36797	0.184000	0.17185	CAA	CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.478	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0	41	0	G	NM_054020		43931876	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	nonsense	23.68	29	9	SNP	1.000	A	A	43931876	G	A	43931876	4	1	16	1	0	0	0	0	0	1	0	0	2695	1299	45	3	942	3	CATSPER2	15	43931876	Nonsense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		43931876	58599516	90	4740											
UNC13C	440279	genome.wustl.edu	37	chr15	54592555	54592555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttatggaattgaatccAtttatcaagctatgacgtaa	13	14	8	6	2	1	2	1	2	0	0	2	3	2	3	1	1	2	3	1	1	7	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:54592555A>G	ENST00000260323.11	+	12	4252	c.4252A>G	c.(4252-4254)Att>Gtt	p.I1418V	UNC13C_ENST00000537900.1_Missense_Mutation_p.I1416V|UNC13C_ENST00000545554.1_Missense_Mutation_p.I1418V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1418					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AATTGAATCCATTTATCAAGC	0.348																																																	0													92	83	86					15																	54592555		1835	4117	5952	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4252A>G	15.37:g.54592555A>G	ENSP00000260323:p.Ile1418Val		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I1418V	ENST00000260323.11	37	c.4252	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	21.6	4.169479	0.78452	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.81659	-1.51;-1.52;-1.51	5.61	5.61	0.85477	.	0.051111	0.85682	D	0.000000	D	0.90058	0.6895	M	0.84511	2.7	0.80722	D	1	D;D	0.69078	0.997;0.985	D;D	0.70716	0.97;0.952	D	0.91161	0.4961	10	0.56958	D	0.05	.	14.9834	0.71327	1.0:0.0:0.0:0.0	.	1418;1418	F5H090;Q8NB66	.;UN13C_HUMAN	V	1418;1418;1416	ENSP00000260323:I1418V;ENSP00000438156:I1418V;ENSP00000442569:I1416V	ENSP00000260323:I1418V	I	+	1	0	UNC13C	52379847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.274000	0.95731	2.133000	0.65898	0.533000	0.62120	ATT	UNC13C	-	NULL	ENSG00000137766		0.348	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	33	0	A	NM_173166		54592555	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	G	G	54592555	A	G	54592555	3	3	16	1	0	0	0	0	1	0	0	0	17035	217	8	4	4294	4	UNC13C	15	54592555	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	10660679	54592555	47938837	91	4741											
FBXL22	283807	genome.wustl.edu	37	chr15	63889686	63889686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggacagcaggaagagccTtgccaggacctgctcccagc	11	4	12	14	0	0	1	0	0	0	1	1	4	1	4	4	3	5	2	4	3	2	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:63889686T>C	ENST00000360587.2	+	1	135	c.95T>C	c.(94-96)cTt>cCt	p.L32P	USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560622.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.L26P|USP3-AS1_ENST00000558831.1_RNA|FBXL22_ENST00000534939.1_Missense_Mutation_p.L32P|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000561191.1_RNA	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	32	F-box.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				lung(4)	4						AGGAAGAGCCTTGCCAGGACC	0.582																																																	0													69	60	63					15																	63889686		2203	4300	6503	SO:0001583	missense	0			BC065833	CCDS10187.1, CCDS10187.2	15q22.1	2012-04-05			ENSG00000197361	ENSG00000197361		"F-boxes / Leucine-rich repeats"	27537	protein-coding gene	gene with protein product		609088				12477932	Standard	NM_203373		Approved	Fbl22, FLJ39626	uc002amn.4	Q6P050	OTTHUMG00000132905	ENST00000360587.2:c.95T>C	15.37:g.63889686T>C	ENSP00000353794:p.Leu32Pro			Missense_Mutation	SNP	superfamily_F-box_dom	p.L32P	ENST00000360587.2	37	c.95	CCDS10187.2	15	.	.	.	.	.	.	.	.	.	.	T	20.8	4.054827	0.75960	.	.	ENSG00000197361	ENST00000360587;ENST00000539570	T;T	0.69435	-0.4;-0.4	5.39	5.39	0.77823	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000002	T	0.75102	0.3804	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78147	-0.2317	10	0.87932	D	0	-4.7924	15.4428	0.75200	0.0:0.0:0.0:1.0	.	26	Q6P050	FXL22_HUMAN	P	32;26	ENSP00000353794:L32P;ENSP00000442112:L26P	ENSP00000353794:L32P	L	+	2	0	FBXL22	61676739	1.000000	0.71417	0.907000	0.35723	0.571000	0.35966	7.930000	0.87610	2.044000	0.60594	0.460000	0.39030	CTT	FBXL22	-	superfamily_F-box_dom	ENSG00000197361		0.582	FBXL22-001	KNOWN	downstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	FBXL22	HGNC	protein_coding	OTTHUMT00000256412.4	-	0	29	0	T	NM_203373		63889686	1	tier1	-	no_errors	ENST00000360587	ensembl	human	known	74_37	missense	46.88	17	15	SNP	0.998	C	C	63889686	T	C	63889686	3	2	16	1	0	0	0	0	1	0	0	0	5741	1609	56	4	79	4	FBXL22	15	63889686	Missense_Mutation	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	9297131	63889686	38641706	92	4742											
CSPG4	1464	genome.wustl.edu	37	chr15	75981216	75981216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacatcccgctggtggaaCgcctgtgtggcccaccactc	6	8	10	17	2	0	0	0	0	0	0	3	1	2	1	5	3	1	1	5	3	1	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:75981216C>T	ENST00000308508.5	-	3	2282	c.2190G>A	c.(2188-2190)gcG>gcA	p.A730A		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	730	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCTGGTGGAACGCCTGTGTGG	0.667																																																	0													48	48	48					15																	75981216		2197	4293	6490	SO:0001819	synonymous_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.2190G>A	15.37:g.75981216C>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.A730	ENST00000308508.5	37	c.2190	CCDS10284.1	15																																																																																			CSPG4	-	NULL	ENSG00000173546		0.667	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	46	0	C	NM_001897		75981216	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	silent	6.90	81	6	SNP	0.378	T	T	75981216	C	T	75981216	2	4	16	1	0	0	0	0	0	0	0	1	3969	523	19	1		1	CSPG4	15	75981216	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	12091530	75981216	26550176	93	4743											
AKAP13	11214	genome.wustl.edu	37	chr15	86076844	86076844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgaaacagtgaaggtgCagctctgtgcttccaaagag	11	10	13	7	0	1	3	0	2	1	1	2	3	2	3	1	1	4	4	1	1	3	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr15:86076844C>A	ENST00000394518.2	+	4	306	c.211C>A	c.(211-213)Cag>Aag	p.Q71K	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q71K|AKAP13_ENST00000560302.1_Missense_Mutation_p.Q71K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	71					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGTGAAGGTGCAGCTCTGTGC	0.473																																					Melanoma(94;603 1453 3280 32295 32951)												0													142	126	131					15																	86076844		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.211C>A	15.37:g.86076844C>A	ENSP00000378026:p.Gln71Lys		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Q71K	ENST00000394518.2	37	c.211	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678737	0.47886	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.59083	0.29;0.29	5.67	5.67	0.87782	.	.	.	.	.	T	0.34745	0.0908	N	0.08118	0	0.80722	D	1	B;B;B	0.31625	0.18;0.274;0.332	B;B;B	0.29598	0.043;0.093;0.104	T	0.26780	-1.0093	9	0.46703	T	0.11	.	8.8119	0.34971	0.0:0.7568:0.1631:0.0801	.	71;71;71	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	K	71;71;70;70	ENSP00000354718:Q71K;ENSP00000378026:Q71K	ENSP00000354718:Q71K	Q	+	1	0	AKAP13	83877848	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.890000	0.39728	2.828000	0.97474	0.655000	0.94253	CAG	AKAP13	-	NULL	ENSG00000170776		0.473	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	71	0	C	NM_007200		86076844	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	A	A	86076844	C	A	86076844	3	1	16	1	0	0	0	0	1	0	0	0	449	711	25	3	221	3	AKAP13	15	86076844	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	10095628	86076844	16454548	94	4744											
BTBD12	84464	genome.wustl.edu	37	chr16	3652151	3652151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcccttcgggtcacgttCatggctgagaggttcttttg	4	16	12	9	2	3	1	2	1	1	1	5	2	4	1	1	3	0	4	1	3	0	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:3652151C>T	ENST00000294008.3	-	4	1558	c.918G>A	c.(916-918)atG>atA	p.M306I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	306	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGGTCACGTTCATGGCTGAGA	0.562								Direct reversal of damage																																									0													126	108	114					16																	3652151		2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.918G>A	16.37:g.3652151C>T	ENSP00000294008:p.Met306Ile		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.M306I	ENST00000294008.3	37	c.918	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016211	0.93404	.	.	ENSG00000188827	ENST00000294008	T	0.01804	4.63	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	L	0.58810	1.83	0.42803	D	0.99393	D	0.89917	1.0	D	0.83275	0.996	T	0.00394	-1.1767	10	0.87932	D	0	.	18.6822	0.91549	0.0:1.0:0.0:0.0	.	306	Q8IY92	SLX4_HUMAN	I	306	ENSP00000294008:M306I	ENSP00000294008:M306I	M	-	3	0	SLX4	3592152	1.000000	0.71417	0.953000	0.39169	0.911000	0.54048	6.081000	0.71309	2.769000	0.95229	0.655000	0.94253	ATG	SLX4	-	NULL	ENSG00000188827		0.562	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	-	0	36	0	C	NM_032444		3652151	-1	tier1	-	no_errors	ENST00000294008	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	T	T	3652151	C	T	3652151	3	4	16	1	0	0	0	0	1	0	0	0	1544	826	29	3	4634	3	BTBD12	16	3652151	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09		3652151	86702602	95	4745											
CIITA	4261	genome.wustl.edu	37	chr16	11001871	11001871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgggcacccgcctcaCgcctcctgatgcacatgtac	6	11	8	16	2	2	1	1	1	1	0	3	1	3	1	4	1	2	3	4	1	1	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:11001871C>T	ENST00000324288.8	+	11	2655	c.2522C>T	c.(2521-2523)aCg>aTg	p.T841M	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	841					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACCCGCCTCACGCCTCCTGAT	0.657			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													25	28	27					16																	11001871		2196	4300	6496	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2522C>T	16.37:g.11001871C>T	ENSP00000316328:p.Thr841Met		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.T841M	ENST00000324288.8	37	c.2522	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305246	0.23736	.	.	ENSG00000179583	ENST00000324288;ENST00000388910	T	0.57595	0.39	5.0	4.05	0.47172	.	0.115810	0.38897	N	0.001524	T	0.68641	0.3023	M	0.65498	2.005	0.24542	N	0.99406	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.971;0.978;0.987;0.998	T	0.62015	-0.6943	10	0.62326	D	0.03	.	12.3618	0.55207	0.0:0.9174:0.0:0.0826	.	841;841;793;841	A0N0N9;P33076;F2Z2G8;Q96KL4	.;C2TA_HUMAN;.;.	M	841;793	ENSP00000316328:T841M	ENSP00000316328:T841M	T	+	2	0	CIITA	10909372	0.004000	0.15560	0.423000	0.26634	0.001000	0.01503	1.409000	0.34680	1.108000	0.41662	-0.119000	0.15052	ACG	CIITA	-	prints_MHC_II_transact	ENSG00000179583		0.657	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	-	0	41	0	C	NM_000246		11001871	1	tier1	-	no_errors	ENST00000324288	ensembl	human	known	74_37	missense	22.73	51	15	SNP	0.109	T	T	11001871	C	T	11001871	3	4	16	1	0	0	0	0	1	0	0	0	3435	536	19	1	2564	1	CIITA	16	11001871	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	7349720	11001871	79352882	96	4746											
MYH11	4629	genome.wustl.edu	37	chr16	15835388	15835388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcttcctcctcctccaGgcgggcctccatctcatgca	4	11	7	19	1	2	0	1	0	2	0	8	0	7	0	7	2	1	1	7	2	0	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:15835388G>A	ENST00000300036.5	-	22	2900	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	MYH11_ENST00000576790.2_Silent_p.L931L|MYH11_ENST00000396324.3_Silent_p.L938L|MYH11_ENST00000452625.2_Silent_p.L938L|AF001548.6_ENST00000577048.1_RNA	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	931					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTCCTCCAGGCGGGCCTCC	0.622			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													118	116	117					16																	15835388		2197	4300	6497	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2791C>T	16.37:g.15835388G>A			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.L938	ENST00000300036.5	37	c.2812	CCDS10565.1	16																																																																																			MYH11	-	NULL	ENSG00000133392		0.622	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	-	0	26	0	G	NM_001040113		15835388	-1	tier1	-	no_errors	ENST00000396324	ensembl	human	known	74_37	silent	62.16	14	23	SNP	0.997	A	A	15835388	G	A	15835388	2	1	16	1	0	0	0	0	0	0	0	1	10069	991	35	3		3	MYH11	16	15835388	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	4833517	15835388	74519365	97	4747											
SYT17	51760	genome.wustl.edu	37	chr16	19191850	19191850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctacatacagcctgacgcGgaggatttcgagtaagtatc	11	10	11	9	3	1	1	0	1	1	0	3	4	1	3	1	2	3	2	1	2	4	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:19191850G>A	ENST00000355377.2	+	4	718	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SYT17_ENST00000562711.2_Missense_Mutation_p.R103Q|SYT17_ENST00000562034.1_Missense_Mutation_p.R46Q|SYT17_ENST00000568115.1_Missense_Mutation_p.R46Q	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	107					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGCCTGACGCGGAGGATTTCG	0.572											OREG0023658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	62	65					16																	19191850		2197	4300	6497	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.320G>A	16.37:g.19191850G>A	ENSP00000347538:p.Arg107Gln	731	O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.R107Q	ENST00000355377.2	37	c.320	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766709	0.69878	.	.	ENSG00000103528	ENST00000355377	T	0.16457	2.34	4.73	4.73	0.59995	.	0.213889	0.29522	N	0.011908	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	D;D	0.64830	0.994;0.994	P;D	0.64042	0.885;0.921	T	0.04454	-1.0950	10	0.18276	T	0.48	.	18.2759	0.90083	0.0:0.0:1.0:0.0	.	107;46	Q9BSW7;B4DJB2	SYT17_HUMAN;.	Q	107	ENSP00000347538:R107Q	ENSP00000347538:R107Q	R	+	2	0	SYT17	19099351	0.999000	0.42202	1.000000	0.80357	0.901000	0.52897	4.253000	0.58791	2.627000	0.88993	0.655000	0.94253	CGG	SYT17	-	NULL	ENSG00000103528		0.572	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	-	0	32	0	G	NM_016524		19191850	1	tier1	-	no_errors	ENST00000355377	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	A	A	19191850	G	A	19191850	3	1	16	1	0	0	0	0	1	0	0	0	15520	1116	39	1	334	1	SYT17	16	19191850	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	3356462	19191850	71162903	98	4748											
SALL1	6299	genome.wustl.edu	37	chr16	51173264	51173264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggagacaaaccattggCaaactcgcttgggaccgctc	10	7	13	11	2	0	1	0	0	0	1	2	3	0	2	2	4	2	3	2	4	2	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr16:51173264C>A	ENST00000251020.4	-	2	2902	c.2869G>T	c.(2869-2871)Gcc>Tcc	p.A957S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.A860S|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	957					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAACCATTGGCAAACTCGCTT	0.517																																					GBM(103;1352 1446 1855 4775 8890)												0													67	52	57					16																	51173264		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2869G>T	16.37:g.51173264C>A	ENSP00000251020:p.Ala957Ser		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A957S	ENST00000251020.4	37	c.2869	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	4.140	0.024245	0.08006	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.81247	-1.47;-1.47	5.46	5.46	0.80206	.	0.103371	0.64402	D	0.000002	T	0.53753	0.1816	N	0.02916	-0.46	0.40179	D	0.977268	B	0.14012	0.009	B	0.09377	0.004	T	0.55780	-0.8087	10	0.06236	T	0.91	.	9.9031	0.41359	0.0:0.8486:0.0:0.1514	.	957	Q9NSC2	SALL1_HUMAN	S	957;860;921	ENSP00000251020:A957S;ENSP00000407914:A860S	ENSP00000251020:A957S	A	-	1	0	SALL1	49730765	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	3.849000	0.55910	2.557000	0.86248	0.455000	0.32223	GCC	SALL1	-	NULL	ENSG00000103449		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2		0	15	0	C	NM_002968		51173264	-1			no_errors	ENST00000251020	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.997	A	A	51173264	C	A	51173264	3	1	16	1	0	0	0	0	1	0	0	0	13855	710	25	3	1113	3	SALL1	16	51173264	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	31981414	51173264	39181489	99	4749											
WDR81	124997	genome.wustl.edu	37	chr17	1639332	1639332	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccgccctctccctgcaGcacgagttccgactgggcgg	5	7	12	17	4	2	0	1	0	1	0	4	2	3	0	4	2	3	3	4	2	0	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:1639332G>T	ENST00000409644.1	+	9	5325		c.e9-1		WDR81_ENST00000446363.1_Splice_Site|WDR81_ENST00000437219.2_Splice_Site|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Splice_Site|WDR81_ENST00000545662.1_Splice_Site|WDR81_ENST00000309182.5_Splice_Site	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81						negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTCCCTGCAGCACGAGTTCC	0.677																																																	0													47	43	44					17																	1639332		2203	4298	6501	SO:0001630	splice_region_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.5326-1G>T	17.37:g.1639332G>T			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Splice_Site	SNP	-	e9-1	ENST00000409644.1	37	c.5326-1	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802460	0.90538	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WDR81	1586082	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	9.438000	0.97539	2.745000	0.94114	0.655000	0.94253	.	WDR81	-	-	ENSG00000167716		0.677	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2		0	26	0	G	NM_152348	Intron	1639332	1			no_errors	ENST00000409644	ensembl	human	known	74_37	splice_site	5.41	70	4	SNP	1.000	T	T	1639332	G	T	1639332	5	4	16	1	0	0	0	0	0	0	1	0	17379	985	34	3	5421	3	WDR81	17	1639332	Splice_Site	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		1639332	79555878	100	4750											
TP53	7157	genome.wustl.edu	37	chr17	7577530	7577532	+	In_Frame_Del	DEL	TGG	TGG	-																															cagtgtgatgatggtgaggaTgggcctccggttcatgccgc																										TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:7577530_7577532delTGG	ENST00000269305.4	-	7	938_940	c.749_751delCCA	c.(748-753)cccatc>ctc	p.250_251PI>L	TP53_ENST00000445888.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000420246.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000455263.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000413465.2_In_Frame_Del_p.250_251PI>L|TP53_ENST00000359597.4_In_Frame_Del_p.250_251PI>L|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.I251F(9)|p.0?(8)|p.I251fs*94(7)|p.I251L(5)|p.?(5)|p.P250P(4)|p.P250H(4)|p.I251_T253delILT(4)|p.P250F(3)|p.P250N(2)|p.I251del(2)|p.M246_P250delMNRRP(2)|p.I251V(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.R249_I251delRPI(1)|p.I251fs*12(1)|p.I251fs*13(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGAGGATGGGCCTCCGGTT	0.576		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	118	Substitution - Missense(72)|Deletion - In frame(16)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(4)|Insertion - In frame(3)|Insertion - Frameshift(2)	large_intestine(20)|breast(16)|lung(13)|stomach(10)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|skin(6)|central_nervous_system(5)|biliary_tract(5)|liver(5)|oesophagus(5)|ovary(5)|bone(4)|urinary_tract(3)|thyroid(1)|genital_tract(1)|peritoneum(1)|eye(1)|pancreas(1)	GRCh37	CM973401	TP53	M																																				SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.749_751delCCA	17.37:g.7577530_7577532delTGG	ENSP00000269305:p.Pro250_Ile251delinsLeu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.PI250in_frame_delL	ENST00000269305.4	37	c.751_749	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.576	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	50	0	TGG	NM_000546		7577532	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	71.64	19	48	DEL	1.000:1.000:1.000	-	-	7577532	TGG	-	7577530	7	5	16	1	0	1	0	1	0	0	0	0	16429	1464	51	0	539	0	TP53	17	7577530	In_Frame_Del	DEL	TGG	TCGA-IG-A3QL-01A-11D-A247-09	5938198	7577530	73617680	101	4751											
PFAS	5198	genome.wustl.edu	37	chr17	8160282	8160282	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaaatctgcatattccagGttccatctccttcctctcta	8	15	5	13	0	3	0	0	0	3	0	8	1	6	1	4	2	1	2	4	2	3	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:8160282G>T	ENST00000314666.6	+	9	1208		c.e9+1		PFAS_ENST00000545834.1_Splice_Site	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CATATTCCAGGTTCCATCTCC	0.567																																																	0													95	95	95					17																	8160282		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1075+1G>T	17.37:g.8160282G>T			A6H8V8	Splice_Site	SNP	-	e8+1	ENST00000314666.6	37	c.1075+1	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148637	0.37923	.	.	ENSG00000178921	ENST00000314666	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7166	0.88338	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PFAS	8101007	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	8.643000	0.91040	2.789000	0.95967	0.655000	0.94253	.	PFAS	-	-	ENSG00000178921		0.567	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2		0	22	0	G		Intron	8160282	1			no_errors	ENST00000314666	ensembl	human	known	74_37	splice_site	7.41	50	4	SNP	1.000	T	T	8160282	G	T	8160282	5	4	16	1	0	0	0	0	0	0	1	0	11793	1275	44	3	1106	3	PFAS	17	8160282	Splice_Site	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	582752	8160282	73034928	102	4752											
FLCN	201163	genome.wustl.edu	37	chr17	17122347	17122347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctacctgcctcatgtgccGgagggacttgaagactggca	8	8	13	12	1	1	2	1	1	0	1	1	4	1	4	4	3	3	1	4	3	2	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:17122347G>A	ENST00000285071.4	-	9	1502	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.P57L	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	350					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTCATGTGCCGGAGGGACTTG	0.667									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0													37	45	42					17																	17122347		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1048C>T	17.37:g.17122347G>A	ENSP00000285071:p.Arg350Trp		A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	pfam_Folliculin	p.R350W	ENST00000285071.4	37	c.1048	CCDS32579.1	17	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886216	0.72410	.	.	ENSG00000154803	ENST00000285071	D	0.94138	-3.36	5.83	2.44	0.29823	.	0.000000	0.85682	D	0.000000	D	0.95098	0.8412	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	D	0.94321	0.7553	10	0.48119	T	0.1	-10.4875	14.6663	0.68910	0.0:0.0:0.457:0.5429	.	350	Q8NFG4	FLCN_HUMAN	W	350	ENSP00000285071:R350W	ENSP00000285071:R350W	R	-	1	2	FLCN	17063072	0.947000	0.32204	0.915000	0.36163	0.978000	0.69477	0.985000	0.29578	0.719000	0.32188	0.655000	0.94253	CGG	FLCN	-	NULL	ENSG00000154803		0.667	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLCN	HGNC	protein_coding	OTTHUMT00000131577.1	-	0	34	0	G	NM_144606		17122347	-1	tier1	-	no_errors	ENST00000285071	ensembl	human	known	74_37	missense	25.56	67	23	SNP	0.988	A	A	17122347	G	A	17122347	3	1	16	1	0	0	0	0	1	0	0	0	5943	1115	39	1	715	1	FLCN	17	17122347	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	8962065	17122347	64072863	103	4753											
ACACA	31	genome.wustl.edu	37	chr17	35567390	35567390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatacggtacctgtttagcGtagggatgttccctctgtaa	9	13	10	9	2	1	0	0	0	1	0	2	1	2	1	2	2	3	5	2	2	5	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:35567390G>A	ENST00000394406.2	-	30	3777	c.3587C>T	c.(3586-3588)aCg>aTg	p.T1196M	ACACA_ENST00000360679.3_Missense_Mutation_p.T1138M|ACACA_ENST00000353139.5_Missense_Mutation_p.T1233M|ACACA_ENST00000335166.5_Missense_Mutation_p.T1118M	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1196					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGTTTAGCGTAGGGATGTT	0.343																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													94	95	95					17																	35567390		2203	4300	6503	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3587C>T	17.37:g.35567390G>A	ENSP00000377928:p.Thr1196Met		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.T1233M	ENST00000394406.2	37	c.3698	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240030	0.79912	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	6.16	6.16	0.99307	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	L	0.52573	1.65	0.80722	D	1	D;B;B	0.89917	1.0;0.269;0.405	D;B;B	0.85130	0.997;0.041;0.058	T	0.55891	-0.8069	10	0.46703	T	0.11	-13.1869	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1233;1196;1138	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	M	1233;1138;1196;1220;1118	ENSP00000344789:T1233M;ENSP00000353898:T1138M;ENSP00000377928:T1196M;ENSP00000335323:T1118M	ENSP00000335323:T1118M	T	-	2	0	ACACA	32641503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	ACG	ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.343	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	41	0	G	NM_198836		35567390	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	48.08	27	25	SNP	1.000	A	A	35567390	G	A	35567390	3	1	16	1	0	0	0	0	1	0	0	0	106	1145	40	1	3561	1	ACACA	17	35567390	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	18445043	35567390	45627820	104	4754											
HOXB5	3215	genome.wustl.edu	37	chr17	46670668	46670668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcggtgaaattggcgctgGagctggctgaggtcgcctgg	5	11	17	8	3	0	2	0	2	0	0	2	3	0	3	1	6	1	3	1	6	1	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:46670668G>A	ENST00000239151.5	-	1	655	c.377C>T	c.(376-378)tCc>tTc	p.S126F	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000492897.3_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	126					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						ATTGGCGCTGGAGCTGGCTGA	0.682																																																	0													30	33	32					17																	46670668		2203	4300	6503	SO:0001583	missense	0				CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"Homeoboxes / ANTP class : HOXL subclass"	5116	protein-coding gene	gene with protein product		142960	"homeo box B5"	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.377C>T	17.37:g.46670668G>A	ENSP00000239151:p.Ser126Phe		B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S126F	ENST00000239151.5	37	c.377	CCDS11530.1	17	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800055	0.31869	.	.	ENSG00000120075	ENST00000239151	D	0.92911	-3.13	5.31	5.31	0.75309	.	0.122645	0.53938	D	0.000047	D	0.92198	0.7526	M	0.77313	2.365	0.53005	D	0.999963	B	0.30824	0.296	B	0.29440	0.102	D	0.91608	0.5300	10	0.62326	D	0.03	.	18.5879	0.91197	0.0:0.0:1.0:0.0	.	126	P09067	HXB5_HUMAN	F	126	ENSP00000239151:S126F	ENSP00000239151:S126F	S	-	2	0	HOXB5	44025667	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	2.494000	0.45329	2.481000	0.83766	0.455000	0.32223	TCC	HOXB5	-	NULL	ENSG00000120075		0.682	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB5	HGNC	protein_coding	OTTHUMT00000358148.2	-	0	64	0	G			46670668	-1	tier1	-	no_errors	ENST00000239151	ensembl	human	known	74_37	missense	38.14	73	45	SNP	1.000	A	A	46670668	G	A	46670668	3	1	16	1	0	0	0	0	1	0	0	0	7331	1174	41	3	440	3	HOXB5	17	46670668	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	11103278	46670668	34524542	105	4755											
ABCC3	8714	genome.wustl.edu	37	chr17	48745338	48745338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaagacttcccctcaacAtgctgccccagttaatcagc	10	11	5	15	0	3	1	2	0	1	1	4	1	4	1	4	0	4	2	4	0	3	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:48745338A>G	ENST00000285238.8	+	13	1830	c.1750A>G	c.(1750-1752)Atg>Gtg	p.M584V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	584	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCCCCTCAACATGCTGCCCCA	0.537																																																	0													169	145	153					17																	48745338		2203	4300	6503	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1750A>G	17.37:g.48745338A>G	ENSP00000285238:p.Met584Val		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.M584V	ENST00000285238.8	37	c.1750	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	A	9.100	1.003976	0.19199	.	.	ENSG00000108846	ENST00000285238	T	0.28666	1.6	4.32	-2.44	0.06502	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.098165	0.64402	D	0.000003	T	0.22704	0.0548	L	0.60012	1.86	0.47341	D	0.999394	B	0.14012	0.009	B	0.11329	0.006	T	0.03608	-1.1020	10	0.72032	D	0.01	-13.86	4.3236	0.11029	0.4709:0.3481:0.0686:0.1124	.	584	O15438	MRP3_HUMAN	V	584	ENSP00000285238:M584V	ENSP00000285238:M584V	M	+	1	0	ABCC3	46100337	1.000000	0.71417	0.100000	0.21137	0.335000	0.28730	2.068000	0.41471	-0.351000	0.08249	-0.438000	0.05819	ATG	ABCC3	-	superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000108846		0.537	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	-	0	22	0	A	NM_020038		48745338	1	tier1	-	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	48.39	16	15	SNP	0.893	G	G	48745338	A	G	48745338	3	3	16	1	0	0	0	0	1	0	0	0	54	217	8	4	1884	4	ABCC3	17	48745338	Missense_Mutation	SNP	A	TCGA-IG-A3QL-01A-11D-A247-09	2074670	48745338	32449872	106	4756											
SPAG9	9043	genome.wustl.edu	37	chr17	49091695	49091695	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcaaaagctttgttctCtatgcctttggtgggagtgc	7	14	12	8	1	2	0	1	0	1	0	3	2	2	1	1	2	3	2	1	2	3	4			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:49091695C>A	ENST00000262013.7	-	9	1319	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	SPAG9_ENST00000510283.1_Nonsense_Mutation_p.E214*|SPAG9_ENST00000505279.1_Nonsense_Mutation_p.E357*|SPAG9_ENST00000357122.4_Nonsense_Mutation_p.E357*	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	371					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTTTGTTCTCTATGCCTTTG	0.393																																																	0													140	125	131					17																	49091695		2203	4300	6503	SO:0001587	stop_gained	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1111G>T	17.37:g.49091695C>A	ENSP00000262013:p.Glu371*		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Nonsense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.E371*	ENST00000262013.7	37	c.1111	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.582242	0.98371	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000511795	.	.	.	5.63	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-20.2268	11.8645	0.52486	0.0:0.8089:0.1234:0.0677	.	.	.	.	X	371;127;113;113;214;357;357;41	.	ENSP00000262013:E371X	E	-	1	0	SPAG9	46446694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.985000	0.70556	1.477000	0.48234	0.591000	0.81541	GAG	SPAG9	-	NULL	ENSG00000008294		0.393	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	-	0	25	0	C	NM_003971		49091695	-1	tier1	-	no_errors	ENST00000262013	ensembl	human	known	74_37	nonsense	52.78	17	19	SNP	1.000	A	A	49091695	C	A	49091695	4	1	16	1	0	0	0	0	0	1	0	0	15032	922	32	3	2942	3	SPAG9	17	49091695	Nonsense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	346357	49091695	32103515	107	4757											
USH1G	124590	genome.wustl.edu	37	chr17	72915950	72915950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctcgcggcccagtccGtgcagcccactgctcaagta	7	7	9	18	3	1	0	1	0	0	0	4	0	3	0	5	1	3	3	5	1	2	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:72915950G>A	ENST00000319642.1	-	2	1163	c.981C>T	c.(979-981)caC>caT	p.H327H		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	327					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGCCCAGTCCGTGCAGCCCAC	0.677																																																	0													53	64	60					17																	72915950		2203	4299	6502	SO:0001819	synonymous_variant	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.981C>T	17.37:g.72915950G>A			Q8N251	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H327	ENST00000319642.1	37	c.981	CCDS32725.1	17																																																																																			USH1G	-	NULL	ENSG00000182040		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	-	0	46	0	G	NM_173477		72915950	-1	tier1	-	no_errors	ENST00000319642	ensembl	human	known	74_37	silent	25.20	92	31	SNP	0.942	A	A	72915950	G	A	72915950	2	1	16	1	0	0	0	0	0	0	0	1	17084	1136	40	1		1	USH1G	17	72915950	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	23824255	72915950	8279260	108	4758											
SLC16A5	9121	genome.wustl.edu	37	chr17	73096277	73096277	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggggtaccttcctTgtcttcggcgggatctttct	3	14	14	10	2	3	0	0	0	3	0	5	2	4	2	2	6	1	2	2	6	1	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr17:73096277T>A	ENST00000450736.2	+	4	934	c.519T>A	c.(517-519)ctT>ctA	p.L173L	SLC16A5_ENST00000329783.4_Silent_p.L173L|SLC16A5_ENST00000538213.2_Silent_p.L213L|SLC16A5_ENST00000580123.1_Silent_p.L173L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	173					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTACCTTCCTTGTCTTCGGCG	0.642																																																	0													49	49	49					17																	73096277		2203	4300	6503	SO:0001819	synonymous_variant	0			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.519T>A	17.37:g.73096277T>A			B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.L173	ENST00000450736.2	37	c.519	CCDS11713.1	17																																																																																			SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000170190		0.642	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	-	0	48	0	T	NM_004695		73096277	1	tier1	-	no_errors	ENST00000329783	ensembl	human	known	74_37	silent	28.57	55	22	SNP	0.007	A	A	73096277	T	A	73096277	2	1	16	1	0	0	0	0	0	0	0	1	14456	1799	63	5		5	SLC16A5	17	73096277	Silent	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	180327	73096277	8098933	109	4759											
C18orf10	25941	genome.wustl.edu	37	chr18	34376768	34376768	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggagggaggggtgcTcacttccgggtggggtttcc	4	10	20	7	1	1	0	1	0	0	0	3	3	3	3	2	8	1	3	2	8	0	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr18:34376768T>A	ENST00000334295.4	-	7	1330	c.903A>T	c.(901-903)tgA>tgT	p.*301C	TPGS2_ENST00000590652.1_Intron|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000593035.1_Nonstop_Mutation_p.*266C|TPGS2_ENST00000383056.3_Nonstop_Mutation_p.*258C|TPGS2_ENST00000587129.1_Intron	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	0						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGAGGGGTGCTCACTTCCGGG	0.612																																																	0													53	50	51					18																	34376768		2203	4300	6503	SO:0001578	stop_lost	0			BC015178	CCDS32817.1, CCDS62421.1, CCDS62422.1, CCDS62423.1, CCDS62424.1, CCDS74214.1, CCDS74215.1	18q12.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134779	ENSG00000134779			24561	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 10"	C18orf10		12477932	Standard	NM_015476		Approved	DKFZP586M1523, HsT3006	uc031rhw.1	Q68CL5		ENST00000334295.4:c.903A>T	18.37:g.34376768T>A			B4DIX2|K7EIJ9|Q4KN59|Q8WTU3|Q96BT9|Q9Y435	Nonstop_Mutation	SNP	smart_SMI1/KNR4_like_dom	p.*301C	ENST00000334295.4	37	c.903	CCDS32817.1	18	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076932	0.36662	.	.	ENSG00000134779	ENST00000334295;ENST00000383056	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9869	0.80160	0.0:0.0:0.0:1.0	.	.	.	.	C	301;258	.	.	X	-	3	0	C18orf10	32630766	1.000000	0.71417	0.852000	0.33557	0.255000	0.26057	5.175000	0.65021	2.171000	0.68590	0.533000	0.62120	TGA	TPGS2	-	NULL	ENSG00000134779		0.612	TPGS2-001	KNOWN	basic|CCDS	protein_coding	TPGS2	HGNC	protein_coding	OTTHUMT00000440410.2	-	0	21	0	T	NM_015476		34376768	-1	tier1	-	no_errors	ENST00000334295	ensembl	human	known	74_37	nonstop	30.43	32	14	SNP	0.993	A	A	34376768	T	A	34376768	4	1	16	1	0	0	0	0	0	0	0	0	1902	1564	54	5	3	5	C18orf10	18	34376768	Nonstop_Mutation	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09		34376768	43700480	110	4760											
NEDD4L	23327	genome.wustl.edu	37	chr18	55996356	55996356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagggcggggatgtcccCgaggtacgatgtccccagaa	8	6	16	11	4	0	1	0	0	0	1	3	5	2	3	4	5	1	1	4	5	2	1	rs370529329		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr18:55996356C>T	ENST00000400345.3	+	10	1093	c.810C>T	c.(808-810)ccC>ccT	p.P270P	NEDD4L_ENST00000435432.2_Silent_p.P149P|NEDD4L_ENST00000357895.5_Silent_p.P262P|NEDD4L_ENST00000382850.4_Silent_p.P270P|NEDD4L_ENST00000456173.2_Silent_p.P149P|NEDD4L_ENST00000356462.6_Silent_p.P270P|NEDD4L_ENST00000586263.1_Silent_p.P262P|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Silent_p.P149P|NEDD4L_ENST00000256832.7_Silent_p.P149P|NEDD4L_ENST00000456986.1_Silent_p.P149P|NEDD4L_ENST00000256830.9_Silent_p.P270P	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	270					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GGGATGTCCCCGAGGTACGAT	0.557																																																	0								T	,,,,,,,,	0,4006		0,0,2003	24	28	26		447,447,447,810,786,786,447,447,810	-11.9	0.1	18		26	1,8329		0,1,4164	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NEDD4L	NM_001144964.1,NM_001144965.1,NM_001144966.2,NM_001144967.2,NM_001144968.1,NM_001144969.1,NM_001144970.2,NM_001144971.1,NM_015277.5	,,,,,,,,	0,1,6167	TT,TC,CC		0.012,0.0,0.0081	,,,,,,,,	149/855,149/855,149/855,270/976,262/968,262/948,149/835,149/835,270/956	55996356	1,12335	2003	4165	6168	SO:0001819	synonymous_variant	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.810C>T	18.37:g.55996356C>T			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.P270	ENST00000400345.3	37	c.810	CCDS45872.1	18																																																																																			NEDD4L	-	NULL	ENSG00000049759		0.557	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	-	0	10	0	C			55996356	1	tier1	-	no_errors	ENST00000400345	ensembl	human	known	74_37	silent	50.00	5	5	SNP	0.066	T	T	55996356	C	T	55996356	2	4	16	1	0	0	0	0	0	0	0	1	10350	639	23	1		1	NEDD4L	18	55996356	Silent	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	21619588	55996356	22080892	111	4761											
ALPK2	115701	genome.wustl.edu	37	chr18	56247529	56247529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagggggaggagtcagctGacctgggagtgcccggggag	7	5	22	7	1	1	1	1	1	0	0	1	6	1	6	2	7	2	1	2	7	0	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr18:56247529G>A	ENST00000361673.3	-	4	692	c.479C>T	c.(478-480)tCa>tTa	p.S160L	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	160						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGTCAGCTGACCTGGGAGT	0.473																																																	0													212	217	215					18																	56247529		2152	4271	6423	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.479C>T	18.37:g.56247529G>A	ENSP00000354991:p.Ser160Leu		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.S160L	ENST00000361673.3	37	c.479	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	13.21	2.170163	0.38315	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.9	4.85	0.62838	.	.	.	.	.	T	0.36826	0.0981	L	0.44542	1.39	0.09310	N	1	B	0.22276	0.067	B	0.18263	0.021	T	0.22941	-1.0202	9	0.87932	D	0	0.3373	11.3695	0.49692	0.1393:0.0:0.8607:0.0	.	160	Q86TB3	ALPK2_HUMAN	L	160	ENSP00000354991:S160L	ENSP00000354991:S160L	S	-	2	0	ALPK2	54398509	0.085000	0.21516	0.007000	0.13788	0.118000	0.20060	3.019000	0.49635	2.786000	0.95864	0.563000	0.77884	TCA	ALPK2	-	NULL	ENSG00000198796		0.473	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0	106	0	G	NM_052947		56247529	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	32.50	81	39	SNP	0.001	A	A	56247529	G	A	56247529	3	1	16	1	0	0	0	0	1	0	0	0	545	1294	45	3	6073	3	ALPK2	18	56247529	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	251173	56247529	21829719	112	4762											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2389893	2389893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggcgtggtggccaccaGccttgtcgtcctcaccctgg	4	10	12	15	2	1	0	1	0	0	0	3	0	2	0	5	4	1	0	5	4	0	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:2389893G>A	ENST00000332578.3	+	1	110	c.110G>A	c.(109-111)aGc>aAc	p.S37N		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	37					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCACCAGCCTTGTCGTC	0.597																																																	0													113	85	95					19																	2389893		2203	4300	6503	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.110G>A	19.37:g.2389893G>A	ENSP00000330264:p.Ser37Asn		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.S37N	ENST00000332578.3	37	c.110	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054344	0.36277	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.89746	-2.56	4.39	2.02	0.26589	.	0.874842	0.09879	N	0.743925	D	0.82287	0.5004	L	0.29908	0.895	0.09310	N	1	P;P	0.48764	0.89;0.915	B;B	0.42692	0.34;0.395	T	0.71609	-0.4541	10	0.46703	T	0.11	.	7.8248	0.29309	0.0:0.1756:0.6439:0.1804	.	37;37	Q7Z410;E7EMP4	TMPS9_HUMAN;.	N	37	ENSP00000330264:S37N	ENSP00000330264:S37N	S	+	2	0	TMPRSS9	2340893	0.041000	0.20044	0.004000	0.12327	0.001000	0.01503	1.245000	0.32790	0.955000	0.37878	-0.330000	0.08379	AGC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1	ENSG00000178297		0.597	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	-	0	29	0	G	NM_182973		2389893	1	tier1	-	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.003	A	A	2389893	G	A	2389893	3	1	16	1	0	0	0	0	1	0	0	0	16300	971	34	3	112	3	TMPRSS9	19	2389893	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		2389893	56739090	113	4763											
PRKCSH	5589	genome.wustl.edu	37	chr19	11548711	11548711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacaggcacggctgcctgtCctaatggcagcttccactgc	7	9	10	15	1	1	0	1	0	0	0	3	0	3	0	3	3	3	4	3	3	1	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:11548711C>T	ENST00000589838.1	+	3	211	c.211C>T	c.(211-213)Cct>Tct	p.P71S	PRKCSH_ENST00000591462.1_Missense_Mutation_p.P71S|CCDC151_ENST00000356392.4_5'Flank|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000587327.1_Missense_Mutation_p.P71S|CCDC151_ENST00000586836.1_5'Flank|CCDC151_ENST00000591179.1_5'Flank|PRKCSH_ENST00000412601.1_Missense_Mutation_p.P71S|PRKCSH_ENST00000252455.2_Missense_Mutation_p.P71S|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000592741.1_Missense_Mutation_p.P71S			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	71					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GGCTGCCTGTCCTAATGGCAG	0.552																																																	0													83	80	81					19																	11548711		2203	4300	6503	SO:0001583	missense	0				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.211C>T	19.37:g.11548711C>T	ENSP00000465461:p.Pro71Ser		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom	p.P71S	ENST00000589838.1	37	c.211	CCDS32911.1	19	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330903	0.60853	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.70282	-0.47;-0.47	4.28	4.28	0.50868	.	0.060531	0.64402	D	0.000002	T	0.64670	0.2619	N	0.21448	0.665	0.80722	D	1	D;B;P	0.54772	0.968;0.256;0.945	P;B;P	0.51582	0.674;0.223;0.674	T	0.62923	-0.6751	10	0.27785	T	0.31	-14.0108	13.6533	0.62323	0.0:1.0:0.0:0.0	.	71;71;71	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	S	71	ENSP00000252455:P71S;ENSP00000395616:P71S	ENSP00000252455:P71S	P	+	1	0	PRKCSH	11409711	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	5.342000	0.65970	1.937000	0.56155	0.561000	0.74099	CCT	PRKCSH	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000130175		0.552	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1	-	0	33	0	C			11548711	1	tier1	-	no_errors	ENST00000252455	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	T	T	11548711	C	T	11548711	3	4	16	1	0	0	0	0	1	0	0	0	12558	855	30	3	221	3	PRKCSH	19	11548711	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	9158818	11548711	47580272	114	4764											
WDR83	84292	genome.wustl.edu	37	chr19	12780638	12780638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccaaagccgcggcctccaGagctgccgcagaaacggttg	10	4	13	14	4	0	2	0	0	0	2	1	2	1	2	5	2	5	3	5	2	2	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:12780638G>A	ENST00000418543.3	+	3	383	c.34G>A	c.(34-36)Gag>Aag	p.E12K	WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.E12K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	12					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						GCGGCCTCCAGAGCTGCCGCA	0.592																																																	0													40	48	45					19																	12780638		2202	4298	6500	SO:0001583	missense	0			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"WD repeat domain containing"	32672	protein-coding gene	gene with protein product	"MAPK organizer 1"					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.34G>A	19.37:g.12780638G>A	ENSP00000402653:p.Glu12Lys		B2RAF1|Q53FT6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E12K	ENST00000418543.3	37	c.34	CCDS12275.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032208	0.75504	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.43688	0.94;0.94	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.096048	0.64402	D	0.000001	T	0.33352	0.0860	L	0.39020	1.185	0.47511	D	0.999448	B	0.20052	0.041	B	0.16722	0.016	T	0.13764	-1.0497	10	0.07644	T	0.81	.	18.3739	0.90428	0.0:0.0:1.0:0.0	.	12	Q9BRX9	WDR83_HUMAN	K	12	ENSP00000402653:E12K;ENSP00000242796:E12K	ENSP00000242796:E12K	E	+	1	0	WDR83	12641638	0.999000	0.42202	0.964000	0.40570	0.929000	0.56500	5.715000	0.68430	2.818000	0.97014	0.655000	0.94253	GAG	WDR83	-	superfamily_WD40_repeat_dom	ENSG00000123154		0.592	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR83	HGNC	protein_coding	OTTHUMT00000403648.1	-	0	30	0	G	NM_032332		12780638	1	tier1	-	no_errors	ENST00000242796	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.997	A	A	12780638	G	A	12780638	3	1	16	1	0	0	0	0	1	0	0	0	17381	943	33	3	36	3	WDR83	19	12780638	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	1231927	12780638	46348345	115	4765											
USE1	55850	genome.wustl.edu	37	chr19	17330466	17330466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacactcactgaaaatggcGgaccagaacctggagaaact	15	6	9	11	1	2	3	2	1	0	2	2	5	2	4	2	3	2	0	2	3	4	0	rs146606083	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:17330466G>A	ENST00000263897.5	+	8	671	c.624G>A	c.(622-624)gcG>gcA	p.A208A	USE1_ENST00000445667.2_Silent_p.A208A|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000596136.1_3'UTR	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	208					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						TGAAAATGGCGGACCAGAACC	0.562													G|||	3	0.000599042	0.0023	0	5008	,	,		17646	0		0	False		,,,				2504	0																0													71	77	75					19																	17330466		2202	4300	6502	SO:0001819	synonymous_variant	0			AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"Q-SNARE", "SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.624G>A	19.37:g.17330466G>A			Q8NCK1|Q9BRT4	Silent	SNP	pfam_Vesicle_transport_protein_Use1	p.A208	ENST00000263897.5	37	c.624	CCDS46011.1	19																																																																																			USE1	-	pfam_Vesicle_transport_protein_Use1	ENSG00000053501		0.562	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	USE1	HGNC	protein_coding	OTTHUMT00000463295.1		0	36	0	G	NM_018467		17330466	1			no_errors	ENST00000263897	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.009	A	A	17330466	G	A	17330466	2	1	16	1	0	0	0	0	0	0	0	1	17080	1103	39	1		1	USE1	19	17330466	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	4549828	17330466	41798517	116	4766											
UNC13A	23025	genome.wustl.edu	37	chr19	17767143	17767143	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagggtcgaagtcctCgctcagctgagagcttccct	6	10	11	14	3	2	1	2	1	0	1	7	3	4	1	2	1	2	3	2	1	1	1			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:17767143C>A	ENST00000519716.2	-	10	831	c.832G>T	c.(832-834)Gag>Tag	p.E278*	UNC13A_ENST00000550896.1_Nonsense_Mutation_p.E278*|UNC13A_ENST00000551649.1_Nonsense_Mutation_p.E278*|UNC13A_ENST00000252773.7_Nonsense_Mutation_p.E278*|UNC13A_ENST00000428389.2_Nonsense_Mutation_p.E366*|UNC13A_ENST00000552293.1_Nonsense_Mutation_p.E278*	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	278					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCGAAGTCCTCGCTCAGCTGA	0.647																																																	0													15	17	16					19																	17767143		2063	4179	6242	SO:0001587	stop_gained	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.832G>T	19.37:g.17767143C>A	ENSP00000429562:p.Glu278*		E5RHY9	Nonsense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E366*	ENST00000519716.2	37	c.1096	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	37	6.149591	0.97324	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	5.02	5.02	0.67125	.	0.200217	0.41396	U	0.000886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-20.6862	15.801	0.78453	0.0:1.0:0.0:0.0	.	.	.	.	X	278;366;278;278;278;278	.	ENSP00000252773:E278X	E	-	1	0	UNC13A	17628143	1.000000	0.71417	0.996000	0.52242	0.621000	0.37620	7.460000	0.80816	2.330000	0.79161	0.491000	0.48974	GAG	UNC13A	-	NULL	ENSG00000130477		0.647	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	9	0	C	XM_038604		17767143	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	nonsense	38.46	16	10	SNP	1.000	A	A	17767143	C	A	17767143	4	1	16	1	0	0	0	0	0	1	0	0	17033	893	31	2	4411	2	UNC13A	19	17767143	Nonsense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	436677	17767143	41361840	117	4767											
ZNF486	90649	genome.wustl.edu	37	chr19	20308434	20308434	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaaagcttttaaccaTcctgcaactctttcttcaca	11	14	4	12	0	3	1	1	1	2	0	4	1	4	1	2	0	4	2	2	0	3	4			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:20308434T>C	ENST00000335117.8	+	4	972	c.915T>C	c.(913-915)caT>caC	p.H305H	CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTTTTAACCATCCTGCAACTC	0.383																																																	0													44	49	47					19																	20308434		2178	4285	6463	SO:0001819	synonymous_variant	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.915T>C	19.37:g.20308434T>C			Q0VG00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H305	ENST00000335117.8	37	c.915	CCDS46029.1	19																																																																																			ZNF486	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256229		0.383	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0	28	0	T	NM_052852		20308434	1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.000	C	C	20308434	T	C	20308434	2	2	16	1	0	0	0	0	0	0	0	1	17987	1432	50	4		4	ZNF486	19	20308434	Silent	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	2541291	20308434	38820549	118	4768											
ZNF43	7594	genome.wustl.edu	37	chr19	21991047	21991047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaaaagctttgccacattCttcacatttgtagaatttct	11	16	6	8	0	3	1	1	0	2	1	3	1	3	1	1	1	2	3	1	1	4	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:21991047C>T	ENST00000354959.4	-	4	1961	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	ZNF43_ENST00000598381.1_Missense_Mutation_p.E592K|ZNF43_ENST00000594012.1_Missense_Mutation_p.E592K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E592K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGCCACATTCTTCACATTTG	0.358																																																	0													43	46	45					19																	21991047		2202	4297	6499	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1792G>A	19.37:g.21991047C>T	ENSP00000347045:p.Glu598Lys		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E598K	ENST00000354959.4	37	c.1792	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004015	0.35320	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.38887	1.11	1.76	-1.33	0.09172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35158	0.0922	L	0.39898	1.24	0.09310	N	1	P	0.45715	0.865	P	0.46659	0.523	T	0.27706	-1.0066	9	0.62326	D	0.03	.	5.5428	0.17047	0.0:0.6488:0.2011:0.1501	.	598	P17038	ZNF43_HUMAN	K	597;598	ENSP00000347045:E598K	ENSP00000347045:E598K	E	-	1	0	ZNF43	21782887	0.000000	0.05858	0.222000	0.23844	0.706000	0.40770	-0.307000	0.08167	0.080000	0.16959	0.305000	0.20034	GAA	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.358	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	-	0	23	0	C	NM_003423		21991047	-1	tier1	-	no_errors	ENST00000354959	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.026	T	T	21991047	C	T	21991047	3	4	16	1	0	0	0	0	1	0	0	0	17951	922	32	3	641	3	ZNF43	19	21991047	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	1682613	21991047	37137936	119	4769											
ZNF599	148103	genome.wustl.edu	37	chr19	35250997	35250997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgacatcagccatataacGacaggctttcccacactcat	14	9	5	13	1	2	1	2	1	0	0	3	2	3	1	2	1	2	1	2	1	3	3	rs143039488	byFrequency	TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:35250997G>A	ENST00000329285.8	-	4	1082	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCCATATAACGACAGGCTTTC	0.468																																																	0								G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	167	169	169		709	1.1	0.1	19	dbSNP_134	169	0,8600		0,0,4300	yes	missense	ZNF599	NM_001007248.2	180	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging	237/589	35250997	3,13003	2203	4300	6503	SO:0001583	missense	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.709C>T	19.37:g.35250997G>A	ENSP00000333802:p.Arg237Cys		Q569K0|Q5PRG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R237C	ENST00000329285.8	37	c.709	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117531	0.20877	6.81E-4	0.0	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.29655	1.56	2.26	1.13	0.20643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27731	0.0682	L	0.33245	0.995	0.20307	N	0.999917	D	0.64830	0.994	P	0.48770	0.589	T	0.11690	-1.0577	9	0.56958	D	0.05	.	7.9479	0.29998	0.0:0.0:0.7542:0.2458	.	237	Q96NL3	ZN599_HUMAN	C	236;237;39	ENSP00000333802:R237C	ENSP00000333802:R237C	R	-	1	0	ZNF599	39942837	0.000000	0.05858	0.102000	0.21198	0.337000	0.28794	0.055000	0.14229	0.465000	0.27167	0.313000	0.20887	CGT	ZNF599	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153896		0.468	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	-	0	31	0	G	XM_086046		35250997	-1	tier1	rs143039488	no_errors	ENST00000329285	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.128	A	A	35250997	G	A	35250997	3	1	16	1	0	0	0	0	1	0	0	0	18077	1058	37	1	1061	1	ZNF599	19	35250997	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	13259950	35250997	23877986	120	4770											
SLC6A16	28968	genome.wustl.edu	37	chr19	49797779	49797779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaggaggcagtttccctaGgtttatcagctttaaaagta	12	13	9	7	0	2	0	2	0	0	0	3	1	3	1	1	3	1	5	1	3	5	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:49797779G>A	ENST00000335875.4	-	8	1502	c.1261C>T	c.(1261-1263)Cta>Tta	p.L421L	SLC6A16_ENST00000454748.3_Silent_p.L421L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	421					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGTTTCCCTAGGTTTATCAGC	0.483																																																	0													119	119	119					19																	49797779		1923	4147	6070	SO:0001819	synonymous_variant	0			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"Solute carriers"	13622	protein-coding gene	gene with protein product	"NTT5 protein"	607972	"solute carrier family 6 (neurotransmitter transporter), member 16"			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1261C>T	19.37:g.49797779G>A			Q8IYV4|Q9Y5I9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.L421	ENST00000335875.4	37	c.1261	CCDS42590.1	19																																																																																			SLC6A16	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000063127		0.483	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A16	HGNC	protein_coding	OTTHUMT00000465503.2	-	0	68	0	G	NM_014037		49797779	-1	tier1	-	no_errors	ENST00000335875	ensembl	human	known	74_37	silent	11.90	73	10	SNP	0.000	A	A	49797779	G	A	49797779	2	1	16	1	0	0	0	0	0	0	0	1	14724	991	35	3		3	SLC6A16	19	49797779	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	14546782	49797779	9331204	121	4771											
CCDC155	147872	genome.wustl.edu	37	chr19	49910924	49910924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaatacagagtgacgaCgcaggtaactcagcggccct	13	5	13	10	3	1	3	1	1	0	2	1	5	1	4	1	3	3	2	1	3	4	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:49910924C>T	ENST00000447857.3	+	12	1194	c.989C>T	c.(988-990)aCg>aTg	p.T330M		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	330						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AGAGTGACGACGCAGGTAACT	0.597																																																	0													39	45	43					19																	49910924		2061	4198	6259	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.989C>T	19.37:g.49910924C>T	ENSP00000404220:p.Thr330Met		Q96MC3	Missense_Mutation	SNP	NULL	p.T330M	ENST00000447857.3	37	c.989	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	c	11.97	1.796957	0.31777	.	.	ENSG00000161609	ENST00000447857	T	0.34275	1.37	4.83	2.68	0.31781	.	0.434080	0.22628	N	0.057615	T	0.43853	0.1266	M	0.75447	2.3	0.09310	N	0.999994	P;D	0.54397	0.847;0.966	B;P	0.51170	0.188;0.661	T	0.28808	-1.0032	10	0.51188	T	0.08	-8.5529	6.9329	0.24451	0.0:0.7957:0.0:0.2043	.	330;330	C9JGW3;Q8N6L0	.;CC155_HUMAN	M	330	ENSP00000404220:T330M	ENSP00000404220:T330M	T	+	2	0	CCDC155	54602736	0.084000	0.21492	0.159000	0.22649	0.008000	0.06430	1.273000	0.33121	1.356000	0.45884	0.645000	0.84053	ACG	CCDC155	-	NULL	ENSG00000161609		0.597	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	-	0	29	0	C	NM_144688		49910924	1	tier1	-	no_errors	ENST00000447857	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.282	T	T	49910924	C	T	49910924	3	4	16	1	0	0	0	0	1	0	0	0	2795	536	19	1	1031	1	CCDC155	19	49910924	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	113145	49910924	9218059	122	4772											
CEACAM18	729767	genome.wustl.edu	37	chr19	51981881	51981881	+	5'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggacccctcctcctggaGgaccccaggcagctcatgga	8	5	13	15	0	1	0	1	0	0	0	3	5	3	4	6	5	1	2	6	5	0	0			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:51981881G>A	ENST00000396477.4	+	0	6				CEACAM18_ENST00000451626.1_Silent_p.E56E	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTCCTGGAGGACCCCAGGC	0.617																																																	0													31	35	34					19																	51981881		1967	4142	6109	SO:0001623	5_prime_UTR_variant	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.-16G>A	19.37:g.51981881G>A			C9JN24	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E56	ENST00000396477.4	37	c.168		19																																																																																			CEACAM18	-	NULL	ENSG00000213822		0.617	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0	30	0	G			51981881	1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	52.00	24	26	SNP	0.002	A	A	51981881	G	A	51981881	1	1	16	0	1	0	0	0	0	0	0	0	3196	991	35	3		3	CEACAM18	19	51981881	5'UTR	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	2070957	51981881	7147102	123	4773											
ZNF264	9422	genome.wustl.edu	37	chr19	57724047	57724047	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggagcacaaacctcattCgacatgccattatccacact	12	9	6	14	1	1	0	1	0	0	0	3	2	2	1	3	1	3	2	3	1	2	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr19:57724047C>T	ENST00000263095.6	+	4	1996	c.1582C>T	c.(1582-1584)Cga>Tga	p.R528*	ZNF264_ENST00000536056.1_Nonsense_Mutation_p.R528*	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AAACCTCATTCGACATGCCAT	0.498																																																	0													97	96	97					19																	57724047		2203	4300	6503	SO:0001587	stop_gained	0			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1582C>T	19.37:g.57724047C>T	ENSP00000263095:p.Arg528*		A8K8Y9|Q9P1V0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R528*	ENST00000263095.6	37	c.1582	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.811396	0.97857	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	.	.	.	1.98	0.857	0.19025	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	4.5027	0.11872	0.4328:0.3535:0.2137:0.0	.	.	.	.	X	528	.	ENSP00000263095:R528X	R	+	1	2	ZNF264	62415859	0.000000	0.05858	0.217000	0.23759	0.954000	0.61252	-2.168000	0.01270	0.372000	0.24591	0.491000	0.48974	CGA	ZNF264	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083844		0.498	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	-	0	46	0	C			57724047	1	tier1	-	no_errors	ENST00000263095	ensembl	human	known	74_37	nonsense	18.57	57	13	SNP	0.000	T	T	57724047	C	T	57724047	4	4	16	1	0	0	0	0	0	1	0	0	17852	876	31	1	1596	1	ZNF264	19	57724047	Nonsense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	5742166	57724047	1404936	124	4774											
NINL	22981	genome.wustl.edu	37	chr20	25462723	25462723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcttgcagctcatcgttgCggtcctgcaggtcctgtggg	4	11	14	12	2	1	0	1	0	0	0	4	0	3	0	2	3	5	5	2	3	0	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:25462723C>T	ENST00000278886.6	-	14	1764	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	NINL_ENST00000422516.1_Missense_Mutation_p.R564H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	564					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCATCGTTGCGGTCCTGCAG	0.687																																																	0													38	39	39					20																	25462723		2203	4300	6503	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1691G>A	20.37:g.25462723C>T	ENSP00000278886:p.Arg564His		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R564H	ENST00000278886.6	37	c.1691	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	8.074	0.770996	0.15983	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.37235	1.42;1.21	4.73	-2.18	0.07037	.	0.619946	0.14670	N	0.305386	T	0.28466	0.0704	L	0.48642	1.525	0.09310	N	1	B;B	0.18013	0.025;0.016	B;B	0.09377	0.004;0.001	T	0.20505	-1.0273	10	0.54805	T	0.06	-0.4622	11.3351	0.49498	0.0:0.3172:0.0:0.6828	.	564;564	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	H	564	ENSP00000278886:R564H;ENSP00000410431:R564H	ENSP00000278886:R564H	R	-	2	0	NINL	25410723	0.002000	0.14202	0.007000	0.13788	0.489000	0.33432	-0.830000	0.04410	-0.568000	0.06038	0.555000	0.69702	CGC	NINL	-	NULL	ENSG00000101004		0.687	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	-	0	48	0	C	NM_025176		25462723	-1	tier1	-	no_errors	ENST00000278886	ensembl	human	known	74_37	missense	24.07	82	26	SNP	0.007	T	T	25462723	C	T	25462723	3	4	16	1	0	0	0	0	1	0	0	0	10459	768	27	1	2501	1	NINL	20	25462723	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09		25462723	37562797	125	4775											
TTLL9	164395	genome.wustl.edu	37	chr20	30526987	30526987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggggctttgacctcatGtggaatgatggccctgttag	6	12	15	8	1	1	2	1	2	0	0	2	3	1	3	2	4	0	2	2	4	2	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:30526987G>T	ENST00000375938.4	+	14	1414	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000535842.1_Missense_Mutation_p.M387I|TTLL9_ENST00000375922.4_Intron			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	387					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGACCTCATGTGGAATGATG	0.582																																																	0													75	81	79					20																	30526987		1949	4128	6077	SO:0001583	missense	0			AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"Tubulin tyrosine ligase-like family"	16118	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 125"	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.1161G>T	20.37:g.30526987G>T	ENSP00000365105:p.Met387Ile		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.M387I	ENST00000375938.4	37	c.1161	CCDS42863.1	20	.	.	.	.	.	.	.	.	.	.	G	7.437	0.639919	0.14386	.	.	ENSG00000131044	ENST00000375938;ENST00000535842	T;T	0.03035	4.07;4.07	5.66	5.66	0.87406	.	0.148376	0.64402	D	0.000004	T	0.02494	0.0076	N	0.16656	0.425	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.46789	-0.9166	10	0.07644	T	0.81	.	10.7603	0.46261	0.0864:0.0:0.9136:0.0	.	387;289	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	I	387	ENSP00000365105:M387I;ENSP00000442515:M387I	ENSP00000365105:M387I	M	+	3	0	TTLL9	29990648	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.430000	0.66501	2.680000	0.91292	0.561000	0.74099	ATG	TTLL9	-	NULL	ENSG00000131044		0.582	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL9	HGNC	protein_coding		-	0	37	0	G	NM_001008409		30526987	1	tier1	-	no_errors	ENST00000375938	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T	T	30526987	G	T	30526987	3	4	16	1	0	0	0	0	1	0	0	0	16783	1377	48	3	1211	3	TTLL9	20	30526987	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	5064264	30526987	32498533	126	4776											
SPINLW1	57119	genome.wustl.edu	37	chr20	44174309	44174309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaaacatttttttccgcaGctgaagacacaacacttctt	12	14	4	11	1	2	2	0	1	2	1	3	2	3	2	1	0	3	2	1	0	4	6			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:44174309G>T	ENST00000354280.4	-	2	258	c.192C>A	c.(190-192)agC>agA	p.S64R	EPPIN_ENST00000409554.1_Missense_Mutation_p.S64R|EPPIN_ENST00000555685.1_Missense_Mutation_p.S64R|EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.S64R|EPPIN_ENST00000336443.3_Missense_Mutation_p.S48R	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	64	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										TTTTTCCGCAGCTGAAGACAC	0.453																																																	0													335	295	309					20																	44174309		2203	4300	6503	SO:0001583	missense	0			AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"WAP four-disulfide core domain containing"	15932	protein-coding gene	gene with protein product	"epididymal protease inhibitor", "cancer/testis antigen 72"	609031	"serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)", "serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.192C>A	20.37:g.44174309G>T	ENSP00000361746:p.Ser64Arg		A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S64R	ENST00000354280.4	37	c.192	CCDS13359.1	20	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818329	0.50633	.	.	ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000249139	ENST00000555685;ENST00000354280;ENST00000409554;ENST00000336443;ENST00000504988	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	4.67	2.7	0.31948	Whey acidic protein, 4-disulphide core (5);	0.951966	0.08745	N	0.899912	D	0.82522	0.5055	M	0.73319	2.225	0.26328	N	0.977567	D;D;D;D	0.69078	0.995;0.997;0.994;0.99	D;D;P;P	0.65874	0.918;0.939;0.889;0.814	T	0.66126	-0.6001	10	0.44086	T	0.13	.	7.3192	0.26517	0.2014:0.0:0.7986:0.0	.	64;64;64;48	A6PVD6;B3KWW6;O95925;O95925-2	.;.;EPPI_HUMAN;.	R	64;64;64;48;64	ENSP00000452085:S64R;ENSP00000361746:S64R;ENSP00000387153:S64R;ENSP00000338114:S48R;ENSP00000424176:S64R	ENSP00000338114:S48R	S	-	3	2	SPINLW1;SPINLW1-WFDC6	43607723	1.000000	0.71417	0.999000	0.59377	0.594000	0.36715	1.291000	0.33330	0.700000	0.31782	0.563000	0.77884	AGC	EPPIN-WFDC6	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core	ENSG00000249139		0.453	EPPIN-001	KNOWN	basic|CCDS	protein_coding	EPPIN-WFDC6	HGNC	protein_coding	OTTHUMT00000079467.4	-	0	55	0	G			44174309	-1	tier1	-	no_errors	ENST00000504988	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	44174309	G	T	44174309	3	4	16	1	0	0	0	0	1	0	0	0	15114	962	34	3	221	3	SPINLW1	20	44174309	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	13647322	44174309	18851211	127	4777											
NPBWR2	2832	genome.wustl.edu	37	chr20	62737818	62737818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgttgtagtggtcgaCggccagcaccagcttgcaga	10	8	14	9	2	0	2	0	0	0	2	1	4	0	2	2	2	3	5	2	2	2	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr20:62737818C>T	ENST00000369768.1	-	1	706	c.367G>A	c.(367-369)Gtc>Atc	p.V123I		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	123					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TAGTGGTCGACGGCCAGCACC	0.632																																																	0													42	36	38					20																	62737818		2202	4299	6501	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.367G>A	20.37:g.62737818C>T	ENSP00000358783:p.Val123Ile		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.V123I	ENST00000369768.1	37	c.367	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.166277	0.00318	.	.	ENSG00000125522	ENST00000369768	T	0.36699	1.24	3.9	-2.16	0.07080	GPCR, rhodopsin-like superfamily (1);	0.218004	0.35525	N	0.003152	T	0.11750	0.0286	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.35699	-0.9778	10	0.02654	T	1	.	9.9311	0.41523	0.0:0.4379:0.0:0.5621	.	123	P48146	NPBW2_HUMAN	I	123	ENSP00000358783:V123I	ENSP00000358783:V123I	V	-	1	0	NPBWR2	62208262	0.485000	0.25972	0.023000	0.16930	0.062000	0.15995	0.761000	0.26489	-0.323000	0.08602	-0.573000	0.04149	GTC	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt	ENSG00000125522		0.632	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0	38	0	C	NM_005286		62737818	-1	tier1	-	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.164	T	T	62737818	C	T	62737818	3	4	16	1	0	0	0	0	1	0	0	0	10608	536	19	1	637	1	NPBWR2	20	62737818	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	18563509	62737818	287702	128	4778											
TIAM1	7074	genome.wustl.edu	37	chr21	32525396	32525396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcatacctcatcctgggtGagaaaagtttctttttgaag	11	13	9	8	0	2	2	1	2	1	1	3	3	3	2	2	1	2	2	2	1	4	4			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chr21:32525396G>A	ENST00000286827.3	-	19	3699	c.3228C>T	c.(3226-3228)ctC>ctT	p.L1076L	TIAM1_ENST00000541036.1_Silent_p.L1016L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1076	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CATCCTGGGTGAGAAAAGTTT	0.368																																																	0													127	131	130					21																	32525396		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3228C>T	21.37:g.32525396G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.L1076	ENST00000286827.3	37	c.3228	CCDS13609.1	21																																																																																			TIAM1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000156299		0.368	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	48	0	G	NM_003253		32525396	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	silent	24.07	41	13	SNP	1.000	A	A	32525396	G	A	32525396	2	1	16	1	0	0	0	0	0	0	0	1	15937	1277	45	3		3	TIAM1	21	32525396	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		32525396	15604499	129	4779											
MBTPS2	51360	genome.wustl.edu	37	chrX	21896254	21896254	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataattttaataagcgtttGgtaagttgtccctgaagcag	13	14	9	5	1	0	1	0	1	0	0	1	1	1	1	1	1	2	4	1	1	6	7			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:21896254G>T	ENST00000379484.5	+	8	1164	c.1065G>T	c.(1063-1065)ttG>ttT	p.L355F		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	355	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATAAGCGTTTGGTAAGTTGTC	0.353																																																	0													59	53	55					X																	21896254		2203	4300	6503	SO:0001630	splice_region_variant	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1065+1G>T	X.37:g.21896254G>T			Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.L355F	ENST00000379484.5	37	c.1065	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358066	0.61403	.	.	ENSG00000012174	ENST00000379484	D	0.94092	-3.35	5.4	5.4	0.78164	Peptidase M50 (1);	0.766160	0.12145	N	0.495484	D	0.92293	0.7555	L	0.40543	1.245	0.80722	D	1	P	0.49696	0.927	P	0.45343	0.477	D	0.91716	0.5385	10	0.56958	D	0.05	-17.1481	18.2052	0.89852	0.0:0.0:1.0:0.0	.	355	O43462	MBTP2_HUMAN	F	355	ENSP00000368798:L355F	ENSP00000368798:L355F	L	+	3	2	MBTPS2	21806175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.806000	0.62569	2.492000	0.84095	0.600000	0.82982	TTG	MBTPS2	-	pfam_Peptidase_M50	ENSG00000012174		0.353	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	-	0	28	0	G		Missense_Mutation	21896254	1	tier1	-	no_errors	ENST00000379484	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	21896254	G	T	21896254	5	4	16	1	0	0	0	0	0	0	1	0	9400	1362	47	3	1095	3	MBTPS2	23	21896254	Splice_Site	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09		21896254	133374306	130	4780											
CXorf59	286464	genome.wustl.edu	37	chrX	36117945	36117945	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatagaaatgtctaaattTgaagcctggagtaaacgggc	14	11	11	5	1	1	2	0	1	1	1	1	3	1	3	1	2	2	2	1	2	8	5			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:36117945T>G	ENST00000313548.4	+	7	987	c.801T>G	c.(799-801)ttT>ttG	p.F267L		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	267						integral component of membrane (GO:0016021)											TGTCTAAATTTGAAGCCTGGA	0.333																																																	0													94	101	99					X																	36117945		2202	4299	6501	SO:0001583	missense	0			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.801T>G	X.37:g.36117945T>G	ENSP00000324767:p.Phe267Leu			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.F267L	ENST00000313548.4	37	c.801	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	T	16.12	3.032823	0.54790	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.73	5.73	0.89815	.	0.092856	0.44097	D	0.000483	T	0.65923	0.2738	M	0.71581	2.175	0.25638	N	0.986239	D	0.76494	0.999	D	0.68943	0.961	T	0.62996	-0.6735	9	0.72032	D	0.01	-27.6294	12.798	0.57569	0.0:0.0:0.0:1.0	.	267	Q8N9S7	CX059_HUMAN	L	267	.	ENSP00000324767:F267L	F	+	3	2	CXorf59	36027866	1.000000	0.71417	0.972000	0.41901	0.022000	0.10575	3.331000	0.52075	1.930000	0.55929	0.412000	0.27726	TTT	CHDC2	-	NULL	ENSG00000176034		0.333	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	HGNC	protein_coding		-	0	23	0	T	NM_173695		36117945	1	tier1	-	no_errors	ENST00000313548	ensembl	human	known	74_37	missense	87.50	3	21	SNP	1.000	G	G	36117945	T	G	36117945	3	3	16	1	0	0	0	0	1	0	0	0	4124	1809	63	4	823	4	CXorf59	23	36117945	Missense_Mutation	SNP	T	TCGA-IG-A3QL-01A-11D-A247-09	14221691	36117945	119152615	131	4781											
SSX5	6758	genome.wustl.edu	37	chrX	48053592	48053592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacggttagggtcattatCaaaatcattcccctggaagt	11	11	8	11	1	3	0	3	0	0	0	4	1	4	1	3	3	0	1	3	3	5	3			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:48053592C>T	ENST00000376923.1	-	3	252	c.253G>A	c.(253-255)Gat>Aat	p.D85N	SSX5_ENST00000347757.1_Missense_Mutation_p.D85N|SSX5_ENST00000311798.1_Missense_Mutation_p.D126N			O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	85					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGGTCATTATCAAAATCATTC	0.483																																																	0													133	118	123					X																	48053592		2203	4299	6502	SO:0001583	missense	0			BC016640	CCDS14288.1, CCDS14289.1	Xp11.23	2008-02-05			ENSG00000165583	ENSG00000165583			11339	protein-coding gene	gene with protein product		300327					Standard	NM_021015		Approved		uc004diz.1	O60225	OTTHUMG00000021471	ENST00000376923.1:c.253G>A	X.37:g.48053592C>T	ENSP00000366122:p.Asp85Asn		Q5JQ59|Q5JQ60|Q96AW3	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D126N	ENST00000376923.1	37	c.376	CCDS14289.1	X	.	.	.	.	.	.	.	.	.	.	N	13.49	2.252068	0.39797	.	.	ENSG00000165583	ENST00000311798;ENST00000376923;ENST00000347757	T;T;T	0.14022	2.59;2.54;2.54	1.72	0.748	0.18376	.	1.031060	0.07716	N	0.942835	T	0.36386	0.0965	M	0.84846	2.72	0.09310	N	1	D;D	0.71674	0.983;0.998	P;D	0.70016	0.833;0.967	T	0.09618	-1.0666	10	0.56958	D	0.05	.	5.3411	0.15984	0.0:0.6406:0.3594:0.0	.	85;126	O60225;O60225-2	SSX5_HUMAN;.	N	126;85;85	ENSP00000312415:D126N;ENSP00000366122:D85N;ENSP00000290558:D85N	ENSP00000312415:D126N	D	-	1	0	SSX5	47938536	0.015000	0.18098	0.002000	0.10522	0.005000	0.04900	0.143000	0.16115	0.172000	0.19760	0.171000	0.16805	GAT	SSX5	-	NULL	ENSG00000165583		0.483	SSX5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSX5	HGNC	protein_coding	OTTHUMT00000056466.1	-	0	87	0	C	NM_021015		48053592	-1	tier1	-	no_errors	ENST00000311798	ensembl	human	known	74_37	missense	67.44	28	58	SNP	0.002	T	T	48053592	C	T	48053592	3	4	16	1	0	0	0	0	1	0	0	0	15255	826	29	3	329	3	SSX5	23	48053592	Missense_Mutation	SNP	C	TCGA-IG-A3QL-01A-11D-A247-09	11935647	48053592	107216968	132	4782											
NUDT10	170685	genome.wustl.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240		TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)												8	Substitution - coding silent(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)											52	62	59					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	0			AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"Nudix motif containing"	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A			Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E69	ENST00000376006.3	37	c.207	CCDS35278.1	X																																																																																			NUDT10	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000122824		0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1		0	30	0	G	NM_153183		51076024	1			no_errors	ENST00000356450	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	A	A	51076024	G	A	51076024	2	1	16	1	0	0	0	0	0	0	0	1	10765	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	3022432	51076024	104194536	133	4783											
HUWE1	10075	genome.wustl.edu	37	chrX	53641613	53641613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatgattagaccttggggGaggagcagtggcagtgccat	9	8	17	7	0	0	2	0	1	0	1	0	4	0	4	2	5	2	3	2	5	1	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:53641613G>T	ENST00000342160.3	-	22	2600	c.2143C>A	c.(2143-2145)Ccc>Acc	p.P715T	HUWE1_ENST00000262854.6_Missense_Mutation_p.P715T|HUWE1_ENST00000218328.8_Missense_Mutation_p.P715T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	715					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACCTTGGGGGAGGAGCAGTG	0.478																																																	0													146	124	132					X																	53641613		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2143C>A	X.37:g.53641613G>T	ENSP00000340648:p.Pro715Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.P715T	ENST00000342160.3	37	c.2143	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530536	0.64860	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.41400	1.0;1.0;1.0	5.46	5.46	0.80206	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	0.312733	0.30869	N	0.008712	T	0.35307	0.0927	L	0.34521	1.04	0.80722	D	1	B	0.25048	0.117	B	0.35073	0.195	T	0.11767	-1.0574	10	0.02654	T	1	.	16.9953	0.86366	0.0:0.0:1.0:0.0	.	715	Q7Z6Z7	HUWE1_HUMAN	T	715	ENSP00000340648:P715T;ENSP00000262854:P715T;ENSP00000218328:P715T	ENSP00000218328:P715T	P	-	1	0	HUWE1	53658338	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.953000	0.93041	2.275000	0.75901	0.600000	0.82982	CCC	HUWE1	-	pfam_E3_Ub_ligase_DUF913	ENSG00000086758		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	23	0	G	XM_497119		53641613	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T	T	53641613	G	T	53641613	3	4	16	1	0	0	0	0	1	0	0	0	7488	1174	41	3	11229	3	HUWE1	23	53641613	Missense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	2565589	53641613	101628947	134	4784											
LAMP2	3920	genome.wustl.edu	37	chrX	119589255	119589255	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgttatcaccagtgttGtaggaaaatgagacgctgtc	10	13	12	6	1	1	1	1	1	0	1	2	3	1	2	1	1	0	5	1	1	4	4			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:119589255G>T	ENST00000200639.4	-	3	490	c.354C>A	c.(352-354)taC>taA	p.Y118*	LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Y71*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Y118*|LAMP2_ENST00000371335.4_Nonsense_Mutation_p.Y118*|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	118	First lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CACCAGTGTTGTAGGAAAATG	0.373																																																	0													147	127	134					X																	119589255		2203	4300	6503	SO:0001587	stop_gained	0			X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"CD molecules"	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.354C>A	X.37:g.119589255G>T	ENSP00000200639:p.Tyr118*		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Nonsense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.Y118*	ENST00000200639.4	37	c.354	CCDS14599.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.220073	0.97385	.	.	ENSG00000005893	ENST00000434600;ENST00000200639;ENST00000371335;ENST00000540603	.	.	.	5.45	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6856	9.7338	0.40376	0.2083:0.0:0.7917:0.0	.	.	.	.	X	118;118;118;71	.	ENSP00000200639:Y118X	Y	-	3	2	LAMP2	119473283	1.000000	0.71417	0.989000	0.46669	0.964000	0.63967	2.592000	0.46171	1.073000	0.40885	0.600000	0.82982	TAC	LAMP2	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000005893		0.373	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LAMP2	HGNC	protein_coding	OTTHUMT00000058099.1	-	0	42	0	G			119589255	-1	tier1	-	no_errors	ENST00000434600	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	0.984	T	T	119589255	G	T	119589255	4	4	16	1	0	0	0	0	0	1	0	0	8646	1372	48	3	1197	3	LAMP2	23	119589255	Nonsense_Mutation	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	65947642	119589255	35681305	135	4785											
FLNA	2316	genome.wustl.edu	37	chrX	153590885	153590885	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggatgatgtcgaagtcGatgtcagcttcggcggggcc	6	10	16	9	5	1	1	1	1	0	0	4	4	1	2	1	4	2	1	1	4	1	2			TCGA-IG-A3QL-01A-11D-A247-09	TCGA-IG-A3QL-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6f2406c6-2f8d-4b40-984d-b737391f1e71	b5d4a67d-09d9-4e47-adf6-6691f9a1aec6	g.chrX:153590885G>T	ENST00000369850.3	-	17	2702	c.2466C>A	c.(2464-2466)atC>atA	p.I822I	FLNA_ENST00000360319.4_Silent_p.I822I|FLNA_ENST00000422373.1_Silent_p.I822I|FLNA_ENST00000344736.4_Silent_p.I822I	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	822					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTCGAAGTCGATGTCAGCTT	0.622																																																	0													88	98	95					X																	153590885		2094	4190	6284	SO:0001819	synonymous_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2466C>A	X.37:g.153590885G>T			E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.I822	ENST00000369850.3	37	c.2466	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	-	0	42	0	G			153590885	-1	tier1	-	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	42.16	59	43	SNP	0.155	T	T	153590885	G	T	153590885	2	4	16	1	0	0	0	0	0	0	0	1	5955	1048	37	2		2	FLNA	23	153590885	Silent	SNP	G	TCGA-IG-A3QL-01A-11D-A247-09	34001630	153590885	1679675	136	4786											
MAD2L2	10459	genome.wustl.edu	37	chr1	11735184	11735184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttagtggtatcagccggggGtcatgcatgtggacatcctg	7	12	14	8	1	2	0	2	0	0	0	3	1	3	1	2	4	2	2	2	4	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:11735184G>A	ENST00000235310.3	-	10	1477	c.549C>T	c.(547-549)gaC>gaT	p.D183D	MAD2L2_ENST00000376672.1_Silent_p.D196D|MAD2L2_ENST00000376667.3_Silent_p.D183D|MAD2L2_ENST00000376692.4_Silent_p.D183D|MAD2L2_ENST00000376669.5_Silent_p.D196D			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	183	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with ipaB.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCCGGGGGTCATGCATGT	0.577								DNA polymerases (catalytic subunits)																																									0													73	79	77					1																	11735184		2203	4300	6503	SO:0001819	synonymous_variant	0			AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"DNA polymerases"	6764	protein-coding gene	gene with protein product	"mitotic arrest deficient homolog-like 2", "polymerase (DNA-directed), zeta 2, accessory subunit"	604094	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.549C>T	1.37:g.11735184G>A			B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.D196	ENST00000235310.3	37	c.588	CCDS134.1	1																																																																																			MAD2L2	-	superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000116670		0.577	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L2	HGNC	protein_coding	OTTHUMT00000006344.2		0	37	0	G	NM_006341		11735184	-1			no_errors	ENST00000376669	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	A	A	11735184	G	A	11735184	2	1	17	1	0	0	0	0	0	0	0	1	9186	1252	44	3		3	MAD2L2	1	11735184	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		11735184	237515437	1	4787											
TNFRSF1B	7133	genome.wustl.edu	37	chr1	12251047	12251047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcttctgtaccaagacctCggacaccgtgtgtgactcct	8	11	9	13	2	2	2	0	1	2	1	4	3	3	3	4	1	1	1	4	1	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:12251047C>T	ENST00000376259.3	+	3	301	c.212C>T	c.(211-213)tCg>tTg	p.S71L	TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.S71L|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	71					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ACCAAGACCTCGGACACCGTG	0.587																																																	0													152	147	149					1																	12251047		2203	4300	6503	SO:0001583	missense	0			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"Tumor necrosis factor receptor superfamily", "CD molecules"	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.212C>T	1.37:g.12251047C>T	ENSP00000365435:p.Ser71Leu		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.S71L	ENST00000376259.3	37	c.212	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828689	0.16749	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.91945	-2.94;-2.94	4.1	3.19	0.36642	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.586689	0.16510	N	0.211286	D	0.85186	0.5639	L	0.51422	1.61	0.09310	N	1	P	0.37083	0.581	B	0.23419	0.046	T	0.74743	-0.3562	10	0.30854	T	0.27	-6.5634	7.7434	0.28853	0.0:0.8851:0.0:0.1149	.	71	P20333	TNR1B_HUMAN	L	71	ENSP00000365435:S71L;ENSP00000440425:S71L	ENSP00000365435:S71L	S	+	2	0	TNFRSF1B	12173634	0.528000	0.26314	0.084000	0.20598	0.022000	0.10575	1.851000	0.39338	1.103000	0.41568	0.655000	0.94253	TCG	TNFRSF1B	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000028137		0.587	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	-	0	32	0	C	NM_001066		12251047	1	tier1	-	no_errors	ENST00000376259	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.068	T	T	12251047	C	T	12251047	3	4	17	1	0	0	0	0	1	0	0	0	16341	893	31	1	222	1	TNFRSF1B	1	12251047	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	515863	12251047	236999574	2	4788											
VPS13D	55187	genome.wustl.edu	37	chr1	12304375	12304375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccttgggtgatctccatctCcagccttcacttaattggag	7	13	8	13	0	3	1	1	1	2	0	5	2	3	2	4	2	1	0	4	2	1	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:12304375C>T	ENST00000358136.3	+	4	378	c.248C>T	c.(247-249)tCc>tTc	p.S83F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S83F	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATCTCCATCTCCAGCCTTCAC	0.463																																																	0													73	74	74					1																	12304375		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.248C>T	1.37:g.12304375C>T	ENSP00000350854:p.Ser83Phe			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S83F	ENST00000358136.3	37	c.248	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902046	0.92035	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	D;D	0.83250	-1.7;-1.7	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90490	0.7021	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.90331	0.4352	10	0.87932	D	0	.	19.5705	0.95413	0.0:1.0:0.0:0.0	.	83;83	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	83	ENSP00000348666:S83F;ENSP00000350854:S83F	ENSP00000348666:S83F	S	+	2	0	VPS13D	12226962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.147000	0.77382	2.941000	0.99782	0.655000	0.94253	TCC	VPS13D	-	NULL	ENSG00000048707		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	27	0	C	NM_015378		12304375	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	T	T	12304375	C	T	12304375	3	4	17	1	0	0	0	0	1	0	0	0	17241	855	30	3	258	3	VPS13D	1	12304375	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	53328	12304375	236946246	3	4789											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16043265	16043265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttactcggagagaggccatCaagcagatcgaggtgctgca	11	8	13	9	2	1	2	1	0	0	2	3	5	1	3	1	3	4	3	1	3	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:16043265C>G	ENST00000375799.3	+	3	458	c.231C>G	c.(229-231)atC>atG	p.I77M	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.I77M	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	77	Interaction with KIF5B.|RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGAGGCCATCAAGCAGATCG	0.592																																																	0													43	44	44					1																	16043265		2077	4221	6298	SO:0001583	missense	0			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.231C>G	1.37:g.16043265C>G	ENSP00000364956:p.Ile77Met		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.I77M	ENST00000375799.3	37	c.231	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761734	0.69763	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.33654	1.4;1.4	5.72	4.8	0.61643	RUN (2);	0.290828	0.38058	N	0.001828	T	0.53610	0.1807	M	0.73598	2.24	0.43724	D	0.996207	P	0.45011	0.848	P	0.57371	0.819	T	0.56044	-0.8044	10	0.87932	D	0	-11.1307	10.5475	0.45068	0.0:0.7931:0.1349:0.072	.	77	Q8IWE5	PKHM2_HUMAN	M	77	ENSP00000364956:I77M;ENSP00000364950:I77M	ENSP00000364950:I77M	I	+	3	3	PLEKHM2	15915852	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.005000	0.40864	2.696000	0.92011	0.650000	0.86243	ATC	PLEKHM2	-	pfam_Run,pfscan_Run	ENSG00000116786		0.592	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	-	0	32	0	C	NM_015164		16043265	1	tier1	-	no_errors	ENST00000375799	ensembl	human	known	74_37	missense	8.70	41	4	SNP	0.995	G	G	16043265	C	G	16043265	3	3	17	1	0	0	0	0	1	0	0	0	12120	816	29	5	241	5	PLEKHM2	1	16043265	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3738890	16043265	233207356	4	4790											
MAP3K6	9064	genome.wustl.edu	37	chr1	27685071	27685071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcggccgacagagagctgGgcattggcggatggaccttg	7	7	16	11	3	0	1	0	0	0	1	1	5	0	3	3	5	1	2	3	5	0	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:27685071G>A	ENST00000493901.1	-	21	2854	c.2615C>T	c.(2614-2616)cCc>cTc	p.P872L	MAP3K6_ENST00000357582.2_Missense_Mutation_p.P872L|MAP3K6_ENST00000374040.3_Missense_Mutation_p.P864L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	872	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGAGAGCTGGGCATTGGCGG	0.632																																																	0													35	39	37					1																	27685071		2202	4299	6501	SO:0001583	missense	0			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2615C>T	1.37:g.27685071G>A	ENSP00000419591:p.Pro872Leu		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P872L	ENST00000493901.1	37	c.2615	CCDS299.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.164103|5.164103	0.94727|0.94727	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582|ENST00000472410	T;T;T|T	0.27104|0.28255	1.69;1.69;1.69|1.62	5.23|5.23	5.23|5.23	0.72850|0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.60599|0.60599	0.2281|0.2281	M|M	0.86651|0.86651	2.83|2.83	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.68633|0.68633	-0.5357|-0.5357	9|7	0.87932|0.87932	D|D	0|0	.|.	17.5658|17.5658	0.87919|0.87919	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	864;872|.	O95382-3;O95382|.	.;M3K6_HUMAN|.	L|S	864;872;595;872|596	ENSP00000363152:P864L;ENSP00000419591:P872L;ENSP00000350195:P872L|ENSP00000418731:P596S	ENSP00000350195:P872L|ENSP00000418731:P596S	P|P	-|-	2|1	0|0	MAP3K6|MAP3K6	27557658|27557658	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.980000|0.980000	0.70556|0.70556	9.448000|9.448000	0.97600|0.97600	2.464000|2.464000	0.83262|0.83262	0.561000|0.561000	0.74099|0.74099	CCC|CCA	MAP3K6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142733		0.632	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2		0	69	0	G	NM_004672		27685071	-1			no_errors	ENST00000357582	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	27685071	G	A	27685071	3	1	17	1	0	0	0	0	1	0	0	0	9292	1232	43	3	1291	3	MAP3K6	1	27685071	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11641806	27685071	221565550	5	4791											
AHDC1	27245	genome.wustl.edu	37	chr1	27877849	27877849	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcgagggcctgggcctCtagcagctgggcctctgggc	3	8	17	13	1	2	0	0	0	2	0	3	1	2	0	3	5	2	3	3	5	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:27877849C>G	ENST00000247087.5	-	5	1374	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.E260Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	260	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCTGGGCCTCTAGCAGCTGG	0.667																																																	0													24	28	27					1																	27877849		2186	4292	6478	SO:0001583	missense	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.778G>C	1.37:g.27877849C>G	ENSP00000247087:p.Glu260Gln		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.E260Q	ENST00000247087.5	37	c.778	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678984	0.47886	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.55413	0.52;0.52	4.57	3.66	0.41972	.	0.000000	0.32624	U	0.005842	T	0.37571	0.1008	N	0.19112	0.55	0.30990	N	0.721561	B	0.18013	0.025	B	0.24848	0.056	T	0.43310	-0.9399	10	0.56958	D	0.05	-8.2839	10.2093	0.43131	0.0:0.9049:0.0:0.0951	.	260	Q5TGY3	AHDC1_HUMAN	Q	260	ENSP00000247087:E260Q;ENSP00000363123:E260Q	ENSP00000247087:E260Q	E	-	1	0	AHDC1	27750436	0.974000	0.33945	0.997000	0.53966	0.989000	0.77384	2.256000	0.43231	1.141000	0.42275	0.467000	0.42956	GAG	AHDC1	-	NULL	ENSG00000126705		0.667	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-	0	51	0	C			27877849	-1	tier1	-	no_errors	ENST00000247087	ensembl	human	known	74_37	missense	10.26	70	8	SNP	0.996	G	G	27877849	C	G	27877849	3	3	17	1	0	0	0	0	1	0	0	0	412	922	32	5	4037	5	AHDC1	1	27877849	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	192778	27877849	221372772	6	4792											
AHDC1	27245	genome.wustl.edu	37	chr1	27878086	27878086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggggtggcccgctcctCagggctacggatgctgttgg	3	10	18	10	2	1	0	1	0	0	0	2	1	2	1	2	6	2	4	2	6	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:27878086C>T	ENST00000247087.5	-	5	1137	c.541G>A	c.(541-543)Gag>Aag	p.E181K	AHDC1_ENST00000374011.2_Missense_Mutation_p.E181K			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	181	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCCGCTCCTCAGGGCTACGG	0.677																																																	0													65	74	71					1																	27878086		2203	4299	6502	SO:0001583	missense	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.541G>A	1.37:g.27878086C>T	ENSP00000247087:p.Glu181Lys		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	NULL	p.E181K	ENST00000247087.5	37	c.541	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945751	0.73672	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.60424	0.19;0.19	4.36	3.44	0.39384	.	.	.	.	.	T	0.40909	0.1136	N	0.19112	0.55	0.42499	D	0.992928	B	0.21606	0.058	B	0.12156	0.007	T	0.43734	-0.9373	9	0.66056	D	0.02	-10.7463	10.5564	0.45121	0.0:0.9012:0.0:0.0988	.	181	Q5TGY3	AHDC1_HUMAN	K	181	ENSP00000247087:E181K;ENSP00000363123:E181K	ENSP00000247087:E181K	E	-	1	0	AHDC1	27750673	0.994000	0.37717	0.998000	0.56505	0.720000	0.41350	3.261000	0.51530	1.966000	0.57179	0.313000	0.20887	GAG	AHDC1	-	NULL	ENSG00000126705		0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3		0	41	0	C			27878086	-1			no_errors	ENST00000247087	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.992	T	T	27878086	C	T	27878086	3	4	17	1	0	0	0	0	1	0	0	0	412	835	29	3	4274	3	AHDC1	1	27878086	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	237	27878086	221372535	7	4793											
GJA9	81025	genome.wustl.edu	37	chr1	39340430	39340430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctgactgtgccctttctGaactggcccttgaggttacc	5	14	10	12	0	2	3	0	3	2	0	2	3	2	3	3	2	3	2	3	2	2	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:39340430G>A	ENST00000360786.3	-	1	1593	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	GJA9_ENST00000357771.3_Silent_p.F447F|RP5-864K19.4_ENST00000443161.1_RNA|MYCBP_ENST00000397572.2_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	447					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TGCCCTTTCTGAACTGGCCCT	0.507																																																	0													123	120	121					1																	39340430		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"Ion channels / Gap junction proteins (connexins)"	19155	protein-coding gene	gene with protein product	"connexin 59"	611923	"gap junction protein, alpha 10, 59kDa"	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1341C>T	1.37:g.39340430G>A			B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.F447	ENST00000360786.3	37	c.1341	CCDS432.1	1																																																																																			GJA9	-	NULL	ENSG00000131233		0.507	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA9	HGNC	protein_coding	OTTHUMT00000001205.1	-	0	36	0	G	NM_030772		39340430	-1	tier1	-	no_errors	ENST00000357771	ensembl	human	known	74_37	silent	12.50	56	8	SNP	0.004	A	A	39340430	G	A	39340430	2	1	17	1	0	0	0	0	0	0	0	1	6432	1281	45	3		3	GJA9	1	39340430	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11462344	39340430	209910191	8	4794											
GPBP1L1	60313	genome.wustl.edu	37	chr1	46099807	46099807	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaccactagccagtacCactggtttggtaacagagat	11	9	10	11	0	0	1	0	0	0	1	0	2	0	1	3	2	4	5	3	2	3	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:46099807C>G	ENST00000290795.3	-	8	2067	c.846G>C	c.(844-846)gtG>gtC	p.V282V	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Silent_p.V282V			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	282					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TAGCCAGTACCACTGGTTTGG	0.478																																																	0													107	97	100					1																	46099807		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.846G>C	1.37:g.46099807C>G			D3DQ10|Q9H751	Silent	SNP	NULL	p.V282	ENST00000290795.3	37	c.846	CCDS528.1	1																																																																																			GPBP1L1	-	NULL	ENSG00000159592		0.478	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBP1L1	HGNC	protein_coding	OTTHUMT00000098375.1		0	53	0	C	NM_021639		46099807	-1			no_errors	ENST00000290795	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.998	G	G	46099807	C	G	46099807	2	3	17	1	0	0	0	0	0	0	0	1	6622	581	21	5		5	GPBP1L1	1	46099807	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	6759377	46099807	203150814	9	4795											
IPP	3652	genome.wustl.edu	37	chr1	46193360	46193360	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagcccacttcgagcctGatgaagtgaagacacagtgg	11	7	11	12	1	0	4	0	3	0	1	2	5	1	4	3	1	2	0	3	1	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:46193360G>A	ENST00000396478.3	-	5	1093	c.991C>T	c.(991-993)Cag>Tag	p.Q331*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	331						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CTTCGAGCCTGATGAAGTGAA	0.478																																																	0													173	162	166					1																	46193360		2203	4300	6503	SO:0001587	stop_gained	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.991C>T	1.37:g.46193360G>A	ENSP00000379739:p.Gln331*		A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q331*	ENST00000396478.3	37	c.991	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.709248	0.97780	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	331	.	ENSP00000353024:Q331X	Q	-	1	0	IPP	45965947	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.484000	0.97940	2.937000	0.99478	0.650000	0.86243	CAG	IPP	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.478	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	-	0	58	0	G	NM_005897		46193360	-1	tier1	-	no_errors	ENST00000396478	ensembl	human	known	74_37	nonsense	12.50	63	9	SNP	1.000	A	A	46193360	G	A	46193360	4	1	17	1	0	0	0	0	0	1	0	0	7827	1299	45	3	885	3	IPP	1	46193360	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	93553	46193360	203057261	10	4796											
PODN	127435	genome.wustl.edu	37	chr1	53544495	53544495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcgctcgctggacctgtCgggcaaccggctgcacacgc	5	6	14	16	5	0	0	0	0	0	0	2	1	0	1	2	3	3	6	2	3	1	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:53544495C>T	ENST00000312553.5	+	8	1464	c.1457C>T	c.(1456-1458)tCg>tTg	p.S486L	PODN_ENST00000371500.3_Missense_Mutation_p.S467L|PODN_ENST00000395871.2_Missense_Mutation_p.S344L|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	438					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGACCTGTCGGGCAACCGG	0.657																																																	0													64	52	56					1																	53544495		2203	4298	6501	SO:0001583	missense	0			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1457C>T	1.37:g.53544495C>T	ENSP00000308315:p.Ser486Leu		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.S486L	ENST00000312553.5	37	c.1457	CCDS573.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035432	0.93630	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.62364	0.03;0.03;0.03	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.82517	2.595	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.981;0.997;0.951	D	0.84509	0.0621	10	0.87932	D	0	.	18.0614	0.89378	0.0:1.0:0.0:0.0	.	344;467;486	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	L	467;344;486	ENSP00000360555:S467L;ENSP00000379212:S344L;ENSP00000308315:S486L	ENSP00000308315:S486L	S	+	2	0	PODN	53317083	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	5.756000	0.68757	2.492000	0.84095	0.555000	0.69702	TCG	PODN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000174348		0.657	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	-	0	54	0	C	NM_153703		53544495	1	tier1	-	no_errors	ENST00000312553	ensembl	human	known	74_37	missense	10.00	63	7	SNP	1.000	T	T	53544495	C	T	53544495	3	4	17	1	0	0	0	0	1	0	0	0	12217	893	31	1	1487	1	PODN	1	53544495	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	7351135	53544495	195706126	11	4797											
RPE65	6121	genome.wustl.edu	37	chr1	68910473	68910473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaacctggaaaatatattCttgcagggatctgggaaagc	14	10	11	6	0	2	0	0	0	2	0	2	3	2	3	1	3	3	2	1	3	6	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:68910473C>A	ENST00000262340.5	-	4	392	c.339G>T	c.(337-339)aaG>aaT	p.K113N		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	113					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAAATATATTCTTGCAGGGAT	0.408																																																	0													83	85	84					1																	68910473		2203	4300	6503	SO:0001583	missense	0			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.339G>T	1.37:g.68910473C>A	ENSP00000262340:p.Lys113Asn		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.K113N	ENST00000262340.5	37	c.339	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597412	0.66332	.	.	ENSG00000116745	ENST00000262340	D	0.95272	-3.66	4.88	3.89	0.44902	.	0.182301	0.64402	D	0.000018	D	0.96204	0.8762	M	0.83223	2.63	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	D	0.94456	0.7672	10	0.28530	T	0.3	-12.2395	13.7509	0.62906	0.0:0.9135:0.0:0.0865	.	113	Q16518	RPE65_HUMAN	N	113	ENSP00000262340:K113N	ENSP00000262340:K113N	K	-	3	2	RPE65	68683061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.218000	0.42889	2.545000	0.85829	0.655000	0.94253	AAG	RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.408	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1		0	22	0	C	NM_000329		68910473	-1			no_errors	ENST00000262340	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	68910473	C	A	68910473	3	1	17	1	0	0	0	0	1	0	0	0	13590	912	32	3	1306	3	RPE65	1	68910473	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	15365978	68910473	180340148	12	4798											
FPGT	8790	genome.wustl.edu	37	chr1	74670407	74670407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaatacaggtcttgccatCgtttccttcataagcccagc	9	13	7	12	1	2	1	1	1	1	0	4	1	3	1	3	1	4	1	3	1	3	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:74670407C>T	ENST00000609362.1	+	4	713	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.R239C	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	226					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GTCTTGCCATCGTTTCCTTCA	0.398																																																	0													78	78	78					1																	74670407		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.676C>T	1.37:g.74670407C>T	ENSP00000476680:p.Arg226Cys		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.R239C	ENST00000609362.1	37	c.715	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465613	0.43839	.	.	ENSG00000254685	ENST00000370898	T	0.33216	1.42	5.57	4.66	0.58398	L-fucokinase (1);	.	.	.	.	T	0.13030	0.0316	L	0.52759	1.655	0.80722	D	1	B	0.26512	0.151	B	0.22601	0.04	T	0.04128	-1.0975	8	.	.	.	.	10.6234	0.45493	0.0:0.8537:0.0:0.1463	.	226	O14772	FPGT_HUMAN	C	226	ENSP00000359935:R226C	.	R	+	1	0	TNNI3K	74442995	0.995000	0.38212	1.000000	0.80357	0.977000	0.68977	2.535000	0.45685	1.361000	0.45981	0.591000	0.81541	CGT	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.398	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding			0	19	0	C			74670407	1			no_errors	ENST00000370898	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	74670407	C	T	74670407	3	4	17	1	0	0	0	0	1	0	0	0	6061	884	31	1	690	1	FPGT	1	74670407	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	5759934	74670407	174580214	13	4799											
SPAG17	200162	genome.wustl.edu	37	chr1	118596628	118596628	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtaagctggattaccttGagagagccttctaaaatgaa	14	12	9	6	0	1	3	0	2	1	1	1	5	1	4	2	1	3	2	2	1	6	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:118596628G>C	ENST00000336338.5	-	20	2876	c.2811C>G	c.(2809-2811)ctC>ctG	p.L937L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	937						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ggaTTACCTTGAGAGAGCCTT	0.353																																																	0													57	58	58					1																	118596628		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2811C>G	1.37:g.118596628G>C			Q8NAZ1|Q9NT21	Silent	SNP	NULL	p.L937	ENST00000336338.5	37	c.2811	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.353	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0	54	0	G	NM_206996		118596628	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	silent	5.26	90	5	SNP	0.998	C	C	118596628	G	C	118596628	2	2	17	1	0	0	0	0	0	0	0	1	15026	1277	45	5		5	SPAG17	1	118596628	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	43926221	118596628	130653993	14	4800											
NOTCH2	4853	genome.wustl.edu	37	chr1	120484162	120484162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcacctctcagtgcactCattgatgttgttctcacaat	8	15	6	12	0	4	1	4	1	2	0	6	1	4	1	1	0	2	4	1	0	1	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:120484162C>T	ENST00000256646.2	-	18	3187	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	990	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTGCACTCATTGATGTTG	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													116	91	99					1																	120484162		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2968G>A	1.37:g.120484162C>T	ENSP00000256646:p.Glu990Lys		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.E990K	ENST00000256646.2	37	c.2968	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.679636	0.96774	.	.	ENSG00000134250	ENST00000256646	D	0.91996	-2.95	6.08	6.08	0.98989	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37906	U	0.001891	D	0.96364	0.8814	M	0.84773	2.715	0.80722	D	1	D;D	0.69078	0.997;0.988	D;P	0.81914	0.995;0.696	D	0.95618	0.8678	10	0.56958	D	0.05	.	19.6603	0.95864	0.0:1.0:0.0:0.0	.	990;990	Q6IQ50;Q04721	.;NOTC2_HUMAN	K	990	ENSP00000256646:E990K	ENSP00000256646:E990K	E	-	1	0	NOTCH2	120285685	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	7.382000	0.79729	2.894000	0.99253	0.591000	0.81541	GAG	NOTCH2	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134250		0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0	68	0	C	NM_024408		120484162	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	8.26	111	10	SNP	1.000	T	T	120484162	C	T	120484162	3	4	17	1	0	0	0	0	1	0	0	0	10587	835	29	3	4515	3	NOTCH2	1	120484162	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1887534	120484162	128766459	15	4801											
SETDB1	9869	genome.wustl.edu	37	chr1	150923931	150923931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactctggctaccagtacaaGagactagaagagtgtctacc	14	8	9	10	0	2	3	0	0	2	3	2	4	2	3	2	1	4	2	2	1	7	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:150923931G>A	ENST00000271640.5	+	14	2494	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.K768K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	768	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCAGTACAAGAGACTAGAAG	0.478																																																	0													88	77	81					1																	150923931		2203	4300	6503	SO:0001819	synonymous_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2304G>A	1.37:g.150923931G>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.K768	ENST00000271640.5	37	c.2304	CCDS44217.1	1																																																																																			SETDB1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom	ENSG00000143379		0.478	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0	62	0	G			150923931	1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	13.64	95	15	SNP	1.000	A	A	150923931	G	A	150923931	2	1	17	1	0	0	0	0	0	0	0	1	14183	933	33	3		3	SETDB1	1	150923931	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	30439769	150923931	98326690	16	4802											
SNAPIN	23557	genome.wustl.edu	37	chr1	153631615	153631615	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttgtacctctttgcagaGagagccaggtagagctccgg	8	9	13	11	1	1	3	0	0	1	3	2	4	2	3	4	2	4	4	4	2	2	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:153631615G>C	ENST00000368685.5	+	2	235	c.145G>C	c.(145-147)Gag>Cag	p.E49Q	SNAPIN_ENST00000478558.1_3'UTR|ILF2_ENST00000480213.1_5'Flank	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	49					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTTGCAGAGAGAGCCAGGT	0.532																																																	0													49	49	49					1																	153631615		2203	4300	6503	SO:0001630	splice_region_variant	0			AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"Biogenesis of lysosomal organelles complex-1 subunits"	17145	protein-coding gene	gene with protein product	"snapin", "SNAP-25-binding protein", "biogenesis of lysosomal organelles complex-1, subunit 7"	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.144-1G>C	1.37:g.153631615G>C			D3DV56|Q5SXU8	Missense_Mutation	SNP	pirsf_Snapin	p.E49Q	ENST00000368685.5	37	c.145	CCDS1049.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936639	0.73442	.	.	ENSG00000143553	ENST00000368685	T	0.44482	0.92	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.14442	0.0349	N	0.04994	-0.135	0.54753	D	0.999985	B	0.18013	0.025	B	0.11329	0.006	T	0.03651	-1.1016	10	0.42905	T	0.14	-36.9764	17.2626	0.87075	0.0:0.0:1.0:0.0	.	49	O95295	SNAPN_HUMAN	Q	49	ENSP00000357674:E49Q	ENSP00000357674:E49Q	E	+	1	0	SNAPIN	151898239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.515000	0.73751	2.941000	0.99782	0.655000	0.94253	GAG	SNAPIN	-	pirsf_Snapin	ENSG00000143553		0.532	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPIN	HGNC	protein_coding	OTTHUMT00000090036.1	-	0	51	0	G	NM_012437	Missense_Mutation	153631615	1	tier1	-	no_errors	ENST00000368685	ensembl	human	known	74_37	missense	11.36	78	10	SNP	1.000	C	C	153631615	G	C	153631615	5	2	17	1	0	0	0	0	0	0	1	0	14884	956	33	5	151	5	SNAPIN	1	153631615	Splice_Site	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2707684	153631615	95619006	17	4803											
COPA	1314	genome.wustl.edu	37	chr1	160268910	160268910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcatcatattttctgttGatcagggccagcttgaattt	9	16	7	9	0	4	2	3	2	1	0	4	2	4	2	2	1	1	2	2	1	2	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:160268910G>C	ENST00000241704.7	-	18	2041	c.1812C>G	c.(1810-1812)atC>atG	p.I604M	COPA_ENST00000368069.3_Missense_Mutation_p.I613M	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	604					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTTTCTGTTGATCAGGGCCA	0.438																																																	0													128	127	127					1																	160268910		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1812C>G	1.37:g.160268910G>C	ENSP00000241704:p.Ile604Met		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I613M	ENST00000241704.7	37	c.1839	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320173	0.41096	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.61040	0.19;0.14	4.98	4.06	0.47325	Coatomer, WD associated region (1);	0.107166	0.64402	D	0.000004	T	0.57946	0.2088	M	0.81802	2.56	0.50171	D	0.999853	B;P	0.39748	0.374;0.686	P;P	0.51355	0.467;0.667	T	0.64820	-0.6317	10	0.66056	D	0.02	-10.2436	7.3267	0.26560	0.0848:0.0:0.7452:0.17	.	604;613	P53621;P53621-2	COPA_HUMAN;.	M	613;604	ENSP00000357048:I613M;ENSP00000241704:I604M	ENSP00000241704:I604M	I	-	3	3	COPA	158535534	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.366000	0.59492	1.309000	0.44985	-0.291000	0.09656	ATC	COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.438	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0	45	0	G	NM_004371		160268910	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	C	C	160268910	G	C	160268910	3	2	17	1	0	0	0	0	1	0	0	0	3734	1280	45	5	1926	5	COPA	1	160268910	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6637295	160268910	88981711	18	4804											
COPA	1314	genome.wustl.edu	37	chr1	160276271	160276271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatctcattcttcagatTcttgatcagaagctgcaata	11	14	8	8	0	5	4	3	2	3	2	6	4	5	4	0	1	2	2	0	1	3	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:160276271T>A	ENST00000241704.7	-	15	1544	c.1315A>T	c.(1315-1317)Aat>Tat	p.N439Y	COPA_ENST00000368069.3_Missense_Mutation_p.N439Y	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	439					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCTTCAGATTCTTGATCAGA	0.413																																																	0													162	150	154					1																	160276271		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1315A>T	1.37:g.160276271T>A	ENSP00000241704:p.Asn439Tyr		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N439Y	ENST00000241704.7	37	c.1315	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211884	0.79240	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.66460	-0.16;-0.21	5.79	4.66	0.58398	Coatomer, WD associated region (1);	0.082406	0.85682	D	0.000000	T	0.78400	0.4277	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.978	T	0.82481	-0.0436	10	0.87932	D	0	-23.2771	10.6614	0.45704	0.0:0.0754:0.0:0.9246	.	439;439	P53621;P53621-2	COPA_HUMAN;.	Y	439	ENSP00000357048:N439Y;ENSP00000241704:N439Y	ENSP00000241704:N439Y	N	-	1	0	COPA	158542895	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.954000	0.87848	1.009000	0.39289	0.533000	0.62120	AAT	COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.413	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1		0	28	0	T	NM_004371		160276271	-1			no_errors	ENST00000368069	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A	A	160276271	T	A	160276271	3	1	17	1	0	0	0	0	1	0	0	0	3734	1783	62	5	2462	5	COPA	1	160276271	Missense_Mutation	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09	7361	160276271	88974350	19	4805											
C1orf129	80133	genome.wustl.edu	37	chr1	170959080	170959080	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgcaggttatcactttgTtgacatgcacttcacccaag	9	14	8	10	0	2	1	2	1	0	0	2	1	2	1	1	1	2	5	1	1	2	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:170959080T>C	ENST00000367758.3	+	11	1063	c.964T>C	c.(964-966)Ttg>Ctg	p.L322L	MROH9_ENST00000367759.4_Silent_p.L322L	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	322																	TATCACTTTGTTGACATGCAC	0.458																																																	0													150	143	145					1																	170959080		1934	4145	6079	SO:0001819	synonymous_variant	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.964T>C	1.37:g.170959080T>C			A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	superfamily_ARM-type_fold	p.L322	ENST00000367758.3	37	c.964	CCDS41436.1	1																																																																																			MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.458	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1	-	0	55	0	T	NM_025063		170959080	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	silent	6.73	97	7	SNP	0.006	C	C	170959080	T	C	170959080	2	2	17	1	0	0	0	0	0	0	0	1	2003	1722	60	4		4	C1orf129	1	170959080	Silent	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09	10682809	170959080	78291541	20	4806											
KLHL20	27252	genome.wustl.edu	37	chr1	173744844	173744844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacccggaggaaacacctaGgctgtgcagtatatcaggac	12	6	13	10	1	1	0	1	0	0	0	1	4	1	4	2	5	2	3	2	5	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:173744844G>C	ENST00000209884.4	+	10	1637	c.1501G>C	c.(1501-1503)Ggc>Cgc	p.G501R	KLHL20_ENST00000546011.1_Missense_Mutation_p.G312R	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	501					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GAAACACCTAGGCTGTGCAGT	0.483																																					GBM(159;862 2695 6559 23041)												0													107	100	102					1																	173744844		2203	4300	6503	SO:0001583	missense	0			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1501G>C	1.37:g.173744844G>C	ENSP00000209884:p.Gly501Arg		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G501R	ENST00000209884.4	37	c.1501	CCDS1310.1	1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995188	0.54147	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	D;D	0.82711	-1.64;-1.64	5.32	3.46	0.39613	Galactose oxidase, beta-propeller (1);	0.048129	0.85682	D	0.000000	D	0.87908	0.6296	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88685	0.3205	10	0.87932	D	0	.	10.5839	0.45271	0.1579:0.0:0.8421:0.0	.	312;501	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	R	312;501	ENSP00000443121:G312R;ENSP00000209884:G501R	ENSP00000209884:G501R	G	+	1	0	KLHL20	172011467	1.000000	0.71417	0.977000	0.42913	0.312000	0.27988	7.436000	0.80404	0.643000	0.30638	-0.136000	0.14681	GGC	KLHL20	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000076321		0.483	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	-	0	38	0	G	NM_014458		173744844	1	tier1	-	no_errors	ENST00000209884	ensembl	human	known	74_37	missense	9.64	75	8	SNP	0.992	C	C	173744844	G	C	173744844	3	2	17	1	0	0	0	0	1	0	0	0	8402	1000	35	5	1535	5	KLHL20	1	173744844	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2785764	173744844	75505777	21	4807											
HMCN1	83872	genome.wustl.edu	37	chr1	185902877	185902877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctaaagagtgtgaaattCaacgatgctggagagtatca	15	9	12	5	1	2	3	2	1	0	2	2	6	2	3	0	1	3	3	0	1	5	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:185902877C>G	ENST00000271588.4	+	11	1978	c.1749C>G	c.(1747-1749)ttC>ttG	p.F583L	HMCN1_ENST00000367492.2_Missense_Mutation_p.F583L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	583	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGTGAAATTCAACGATGCTG	0.458																																																	0													152	146	148					1																	185902877		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1749C>G	1.37:g.185902877C>G	ENSP00000271588:p.Phe583Leu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.F583L	ENST00000271588.4	37	c.1749	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	7.007	0.555928	0.13436	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.25085	1.82;1.82	5.67	3.74	0.42951	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.508790	0.23083	N	0.052131	T	0.11495	0.0280	N	0.12611	0.24	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.22347	-1.0219	10	0.25106	T	0.35	.	3.0074	0.06033	0.1472:0.5553:0.1425:0.1551	.	583	Q96RW7	HMCN1_HUMAN	L	583	ENSP00000271588:F583L;ENSP00000356462:F583L	ENSP00000271588:F583L	F	+	3	2	HMCN1	184169500	0.000000	0.05858	0.004000	0.12327	0.602000	0.36980	0.108000	0.15396	0.702000	0.31825	0.655000	0.94253	TTC	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	77	0	C	NM_031935		185902877	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	10.90	139	17	SNP	0.002	G	G	185902877	C	G	185902877	3	3	17	1	0	0	0	0	1	0	0	0	7247	825	29	5	1791	5	HMCN1	1	185902877	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	12158033	185902877	63347744	22	4808											
HMCN1	83872	genome.wustl.edu	37	chr1	185902924	185902924	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttctagtgaaggtggatCatcagccgcttcagttttcc	7	14	11	9	1	4	1	3	1	1	0	5	2	5	2	2	3	1	3	2	3	2	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:185902924C>G	ENST00000271588.4	+	11	2025	c.1796C>G	c.(1795-1797)tCa>tGa	p.S599*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S599*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	599	Ig-like C2-type 2.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGGTGGATCATCAGCCGCT	0.403																																																	0													152	149	150					1																	185902924		2203	4300	6503	SO:0001587	stop_gained	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1796C>G	1.37:g.185902924C>G	ENSP00000271588:p.Ser599*		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.S599*	ENST00000271588.4	37	c.1796	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.720584	0.96839	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.67	3.78	0.43462	.	0.519042	0.20560	N	0.089936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	11.5408	0.50665	0.0:0.8066:0.1251:0.0683	.	.	.	.	X	599	.	ENSP00000271588:S599X	S	+	2	0	HMCN1	184169547	0.073000	0.21202	0.106000	0.21319	0.088000	0.18126	1.510000	0.35790	0.741000	0.32674	0.655000	0.94253	TCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	75	0	C	NM_031935		185902924	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	nonsense	6.71	153	11	SNP	0.006	G	G	185902924	C	G	185902924	4	3	17	1	0	0	0	0	0	1	0	0	7247	838	29	5	1838	5	HMCN1	1	185902924	Nonsense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	47	185902924	63347697	23	4809											
PLEKHA6	22874	genome.wustl.edu	37	chr1	204228389	204228389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggcatgcctcacctcCgaaggtcttcaggcgggggt	5	7	14	15	4	3	0	2	0	1	0	4	1	4	0	5	5	1	1	5	5	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:204228389C>T	ENST00000272203.3	-	8	1320	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R355Q|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	335	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCCTCACCTCCGAAGGTCTTC	0.617																																																	0													30	34	33					1																	204228389		2203	4300	6503	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1004G>A	1.37:g.204228389C>T	ENSP00000272203:p.Arg335Gln		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R335Q	ENST00000272203.3	37	c.1004	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583653	0.46006	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.11169	2.8;3.23	5.45	5.45	0.79879	.	0.472357	0.24443	N	0.038499	T	0.08891	0.0220	L	0.52364	1.645	0.39426	D	0.966994	P	0.45768	0.866	B	0.31442	0.13	T	0.07195	-1.0785	10	0.54805	T	0.06	.	9.6187	0.39708	0.0:0.8434:0.0:0.1566	.	335	Q9Y2H5	PKHA6_HUMAN	Q	335;355	ENSP00000272203:R335Q;ENSP00000402046:R355Q	ENSP00000272203:R335Q	R	-	2	0	PLEKHA6	202495012	0.980000	0.34600	0.996000	0.52242	0.637000	0.38172	1.993000	0.40747	2.560000	0.86352	0.561000	0.74099	CGG	PLEKHA6	-	NULL	ENSG00000143850		0.617	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	-	0	25	0	C	NM_014935		204228389	-1	tier1	-	no_errors	ENST00000272203	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.863	T	T	204228389	C	T	204228389	3	4	17	1	0	0	0	0	1	0	0	0	12099	652	23	1	2202	1	PLEKHA6	1	204228389	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	18325465	204228389	45022232	24	4810											
CD55	1604	genome.wustl.edu	37	chr1	207499005	207499005	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggagaaatacgaaatggtCagattgatgtaccaggtggc	13	8	14	6	2	1	3	1	1	0	2	1	5	1	3	1	4	2	1	1	4	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:207499005C>G	ENST00000367064.3	+	4	775	c.517C>G	c.(517-519)Cag>Gag	p.Q173E	CD55_ENST00000391921.4_Missense_Mutation_p.Q109E|CD55_ENST00000367065.5_Missense_Mutation_p.Q173E|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000391920.4_Missense_Mutation_p.Q173E|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367063.2_Missense_Mutation_p.Q173E|CD55_ENST00000314754.8_Missense_Mutation_p.Q173E|CD55_ENST00000367062.4_Missense_Mutation_p.Q173E	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	173	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACGAAATGGTCAGATTGATGT	0.358																																																	0													177	171	173					1																	207499005		2203	4300	6503	SO:0001583	missense	0			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"CD molecules", "Blood group antigens"	2665	protein-coding gene	gene with protein product		125240	"decay accelerating factor for complement (CD55, Cromer blood group system)"	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.517C>G	1.37:g.207499005C>G	ENSP00000356031:p.Gln173Glu		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q173E	ENST00000367064.3	37	c.517	CCDS31006.1	1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.307095	0.23821	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01	5.5	-0.281	0.12882	Complement control module (2);Sushi/SCR/CCP (3);	0.743124	0.12837	N	0.435119	T	0.42381	0.1200	L	0.35723	1.085	0.19300	N	0.999973	P;P;B;P;B	0.49961	0.93;0.704;0.297;0.828;0.42	B;B;B;B;B	0.40825	0.301;0.169;0.12;0.341;0.119	T	0.32079	-0.9920	10	0.18276	T	0.48	.	3.9676	0.09439	0.3865:0.4059:0.1291:0.0785	.	109;173;173;173;173	B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;DAF_HUMAN;.	E	173;173;109;109;173;173;173;173	ENSP00000356031:Q173E;ENSP00000356030:Q173E;ENSP00000375788:Q109E;ENSP00000316333:Q173E;ENSP00000356032:Q173E;ENSP00000375787:Q173E;ENSP00000356029:Q173E	ENSP00000316333:Q173E	Q	+	1	0	CD55	205565628	0.000000	0.05858	0.016000	0.15963	0.031000	0.12232	-1.745000	0.01831	-0.021000	0.14009	0.555000	0.69702	CAG	CD55	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000196352		0.358	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD55	HGNC	protein_coding	OTTHUMT00000088208.2	-	0	48	0	C	NM_000574		207499005	1	tier1	-	no_errors	ENST00000314754	ensembl	human	known	74_37	missense	7.69	96	8	SNP	0.043	G	G	207499005	C	G	207499005	3	3	17	1	0	0	0	0	1	0	0	0	3031	827	29	5	531	5	CD55	1	207499005	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3270616	207499005	41751616	25	4811											
PLXNA2	5362	genome.wustl.edu	37	chr1	208390941	208390941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttgttgacattgttggtGagggtgagcacttcgctgca	7	13	14	7	1	0	3	0	3	0	0	1	3	0	3	0	2	3	6	0	2	0	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:208390941G>A	ENST00000367033.3	-	2	1084	c.327C>T	c.(325-327)ctC>ctT	p.L109L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	109	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CATTGTTGGTGAGGGTGAGCA	0.582																																																	0													110	107	108					1																	208390941		2203	4300	6503	SO:0001819	synonymous_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.327C>T	1.37:g.208390941G>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L109	ENST00000367033.3	37	c.327	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	57	0	G	NM_025179		208390941	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	silent	10.19	97	11	SNP	0.965	A	A	208390941	G	A	208390941	2	1	17	1	0	0	0	0	0	0	0	1	12159	1277	45	3		3	PLXNA2	1	208390941	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	891936	208390941	40859680	26	4812											
FAM71A	149647	genome.wustl.edu	37	chr1	212798703	212798703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgctcttgacacacgggatGacctctttgcctattgggaa	8	11	10	12	2	2	2	0	2	2	0	2	4	2	4	3	2	1	1	3	2	2	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:212798703G>A	ENST00000294829.3	+	1	915	c.484G>A	c.(484-486)Gac>Aac	p.D162N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	162						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACACGGGATGACCTCTTTGC	0.493																																																	0													116	121	119					1																	212798703		2203	4300	6503	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.484G>A	1.37:g.212798703G>A	ENSP00000294829:p.Asp162Asn		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.D162N	ENST00000294829.3	37	c.484	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968559	0.53614	.	.	ENSG00000162771	ENST00000294829	T	0.18338	2.22	4.54	4.54	0.55810	.	0.407497	0.22564	N	0.058434	T	0.43523	0.1251	M	0.82323	2.585	0.37169	D	0.902951	D	0.76494	0.999	D	0.72338	0.977	T	0.53585	-0.8418	10	0.62326	D	0.03	-29.2238	13.0262	0.58817	0.0:0.0:1.0:0.0	.	162	Q8IYT1	FA71A_HUMAN	N	162	ENSP00000294829:D162N	ENSP00000294829:D162N	D	+	1	0	FAM71A	210865326	0.032000	0.19561	0.947000	0.38551	0.015000	0.08874	1.339000	0.33885	2.526000	0.85167	0.563000	0.77884	GAC	FAM71A	-	pfam_DUF3699	ENSG00000162771		0.493	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	-	0	28	0	G	NM_153606		212798703	1	tier1	-	no_errors	ENST00000294829	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.965	A	A	212798703	G	A	212798703	3	1	17	1	0	0	0	0	1	0	0	0	5629	1290	45	3	486	3	FAM71A	1	212798703	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4407762	212798703	36451918	27	4813											
RRP15	51018	genome.wustl.edu	37	chr1	218480911	218480911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagatttcatcagtgttttGagagggatggatggaagtac	13	12	13	3	0	2	2	2	1	0	2	2	6	2	5	0	3	1	2	0	3	3	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:218480911G>A	ENST00000366932.3	+	4	672	c.642G>A	c.(640-642)ttG>ttA	p.L214L		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	214						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L214F(2)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		TCAGTGTTTTGAGAGGGATGG	0.368																																																	2	Substitution - Missense(2)	lung(2)											109	106	107					1																	218480911		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.642G>A	1.37:g.218480911G>A				Silent	SNP	pfam_DUF1665	p.L214	ENST00000366932.3	37	c.642	CCDS1520.2	1																																																																																			RRP15	-	pfam_DUF1665	ENSG00000067533		0.368	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	-	0	46	0	G	NM_016052		218480911	1	tier1	-	no_errors	ENST00000366932	ensembl	human	known	74_37	silent	10.89	90	11	SNP	0.295	A	A	218480911	G	A	218480911	2	1	17	1	0	0	0	0	0	0	0	1	13732	1281	45	3		3	RRP15	1	218480911	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	5682208	218480911	30769710	28	4814											
MIA3	375056	genome.wustl.edu	37	chr1	222826624	222826624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagtgtgaatctgaatctGagggtcaaaataaaggtgga	15	10	13	3	0	3	4	1	3	2	1	3	5	3	5	0	3	0	0	0	3	7	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:222826624G>C	ENST00000344922.5	+	15	4289	c.4264G>C	c.(4264-4266)Gag>Cag	p.E1422Q	MIA3_ENST00000340535.7_Missense_Mutation_p.E300Q|MIA3_ENST00000344441.6_Missense_Mutation_p.E1422Q|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1422					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATCTGAATCTGAGGGTCAAAA	0.398																																																	0													140	130	133					1																	222826624		1862	4098	5960	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4264G>C	1.37:g.222826624G>C	ENSP00000340900:p.Glu1422Gln		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E1422Q	ENST00000344922.5	37	c.4264	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.01|18.01	3.528866|3.528866	0.64860|0.64860	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|.	0.72167|.	-0.63;-0.63;1.56|.	5.66|5.66	4.75|4.75	0.60458|0.60458	.|.	.|.	.|.	.|.	.|.	T|.	0.58481|.	0.2125|.	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	P;P;P|.	0.49862|.	0.78;0.798;0.929|.	B;B;B|.	0.40702|.	0.306;0.319;0.338|.	T|.	0.52968|.	-0.8504|.	9|.	0.38643|.	T|.	0.18|.	.|.	16.7488|16.7488	0.85480|0.85480	0.0:0.1291:0.8709:0.0|0.0:0.1291:0.8709:0.0	.|.	1363;300;1422|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	Q|S	1422;1422;1363;300;300|945	ENSP00000340900:E1422Q;ENSP00000340587:E1422Q;ENSP00000345866:E300Q|.	ENSP00000284471:E300Q|.	E|X	+|+	1|2	0|2	MIA3|MIA3	220893247|220893247	1.000000|1.000000	0.71417|0.71417	0.011000|0.011000	0.14972|0.14972	0.976000|0.976000	0.68499|0.68499	5.606000|5.606000	0.67641|0.67641	1.386000|1.386000	0.46466|0.46466	0.557000|0.557000	0.71058|0.71058	GAG|TGA	MIA3	-	NULL	ENSG00000154305		0.398	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4		0	41	0	G	NM_198551		222826624	1			no_errors	ENST00000344441	ensembl	human	known	74_37	missense	7.69	72	6	SNP	0.155	C	C	222826624	G	C	222826624	3	2	17	1	0	0	0	0	1	0	0	0	9603	1291	45	5	4322	5	MIA3	1	222826624	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4345713	222826624	26423997	29	4815											
RYR2	6262	genome.wustl.edu	37	chr1	237895425	237895425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgatccttctgtttaGtcggacagctttaacagaga	10	13	9	9	1	2	2	1	1	1	1	4	4	3	3	1	1	3	3	1	1	2	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:237895425G>C	ENST00000366574.2	+	78	11332	c.11015G>C	c.(11014-11016)aGt>aCt	p.S3672T	RYR2_ENST00000542537.1_Missense_Mutation_p.S3656T|RYR2_ENST00000360064.6_Missense_Mutation_p.S3670T|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3672					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTCTGTTTAGTCGGACAGCT	0.438																																																	0													97	97	97					1																	237895425		1854	4088	5942	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11015G>C	1.37:g.237895425G>C	ENSP00000355533:p.Ser3672Thr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S3670T	ENST00000366574.2	37	c.11009	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209997	0.79240	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96992	-4.2;-4.14;-4.19	5.62	4.71	0.59529	.	0.139342	0.44097	D	0.000483	D	0.97760	0.9265	M	0.80183	2.485	0.80722	D	1	D;D	0.69078	0.989;0.997	D;D	0.72338	0.977;0.91	D	0.97385	0.9985	10	0.33940	T	0.23	-14.3905	14.5497	0.68057	0.0702:0.0:0.9298:0.0	.	627;3672	B4DGV4;Q92736	.;RYR2_HUMAN	T	3672;3670;3656;627	ENSP00000355533:S3672T;ENSP00000353174:S3670T;ENSP00000443798:S3656T	ENSP00000353174:S3670T	S	+	2	0	RYR2	235962048	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	9.485000	0.97942	1.392000	0.46585	-0.140000	0.14226	AGT	RYR2	-	NULL	ENSG00000198626		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	36	0	G	NM_001035		237895425	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	14.06	55	9	SNP	1.000	C	C	237895425	G	C	237895425	3	2	17	1	0	0	0	0	1	0	0	0	13814	1029	36	5	11325	5	RYR2	1	237895425	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	15068801	237895425	11355196	30	4816											
CHML	1122	genome.wustl.edu	37	chr1	241798714	241798714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagaaggatttttctgcaGagcaccaatctcttcaacgt	13	11	7	10	1	3	2	1	0	2	2	4	3	3	3	1	1	3	2	1	1	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:241798714G>C	ENST00000366553.1	-	1	518	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	119					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTTTCTGCAGAGCACCAATC	0.428																																																	0													149	154	152					1																	241798714		2203	4298	6501	SO:0001583	missense	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.355C>G	1.37:g.241798714G>C	ENSP00000355511:p.Leu119Val		B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.L119V	ENST00000366553.1	37	c.355	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	G	3.574	-0.087075	0.07097	.	.	ENSG00000203668	ENST00000366553	T	0.60424	0.19	4.53	-0.268	0.12934	.	0.290828	0.27754	U	0.017985	T	0.33352	0.0860	.	.	.	0.21386	N	0.999709	B	0.10296	0.003	B	0.15870	0.014	T	0.08868	-1.0701	9	0.23302	T	0.38	-0.8071	3.8675	0.09022	0.3923:0.1795:0.4282:0.0	.	119	P26374	RAE2_HUMAN	V	119	ENSP00000355511:L119V	ENSP00000355511:L119V	L	-	1	2	CHML	239865337	0.697000	0.27767	0.042000	0.18584	0.857000	0.48899	-0.194000	0.09559	-0.127000	0.11661	0.650000	0.86243	CTG	CHML	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort	ENSG00000203668		0.428	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1	-	0	19	0	G	NM_001821		241798714	-1	tier1	-	no_errors	ENST00000366553	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.093	C	C	241798714	G	C	241798714	3	2	17	1	0	0	0	0	1	0	0	0	3358	933	33	5	1619	5	CHML	1	241798714	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	3903289	241798714	7451907	31	4817											
WDR64	128025	genome.wustl.edu	37	chr1	241943353	241943353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctttcctggatccacctCatgatgaaaaggtaagaact	12	11	8	10	0	2	3	1	2	1	1	4	4	4	4	3	2	1	2	3	2	4	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr1:241943353C>T	ENST00000366552.2	+	21	2761	c.2554C>T	c.(2554-2556)Cat>Tat	p.H852Y	WDR64_ENST00000437684.2_Missense_Mutation_p.H685Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	852										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GGATCCACCTCATGATGAAAA	0.303																																																	0													88	86	87					1																	241943353		2203	4299	6502	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2554C>T	1.37:g.241943353C>T	ENSP00000355510:p.His852Tyr		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H852Y	ENST00000366552.2	37	c.2554		1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.175234	0.57692	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.37584	1.19;1.19;1.19	5.5	3.58	0.41010	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.166051	0.42964	D	0.000621	T	0.44891	0.1315	L	0.60455	1.87	0.21105	N	0.999789	D;B	0.65815	0.995;0.006	P;B	0.55615	0.78;0.006	T	0.29852	-0.9998	10	0.56958	D	0.05	-10.9186	8.122	0.30976	0.1568:0.7621:0.0:0.0811	.	852;405	B1ANS9;D1MPS4	WDR64_HUMAN;.	Y	852;685;456	ENSP00000355510:H852Y;ENSP00000402446:H685Y;ENSP00000406656:H456Y	ENSP00000355510:H852Y	H	+	1	0	WDR64	240009976	0.984000	0.35163	1.000000	0.80357	0.991000	0.79684	0.833000	0.27504	0.754000	0.32968	0.650000	0.86243	CAT	WDR64	-	superfamily_WD40_repeat_dom	ENSG00000162843		0.303	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		-	0	38	0	C	NM_144625		241943353	1	tier1	-	no_errors	ENST00000366552	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T	T	241943353	C	T	241943353	3	4	17	1	0	0	0	0	1	0	0	0	17364	826	29	3	2636	3	WDR64	1	241943353	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	144639	241943353	7307268	32	4818											
MYT1L	23040	genome.wustl.edu	37	chr2	1795777	1795777	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattttgttcattgattggAtcctacgagatattaaatag	14	16	7	4	1	1	2	1	1	0	1	2	4	2	3	1	1	1	1	1	1	6	9			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:1795777A>T	ENST00000399161.2	-	25	4170	c.3423T>A	c.(3421-3423)gaT>gaA	p.D1141E	MYT1L_ENST00000428368.2_Missense_Mutation_p.D1139E|MYT1L_ENST00000407844.1_Missense_Mutation_p.D139E	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1141					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATTGATTGGATCCTACGAGA	0.313																																																	0													71	60	64					2																	1795777		1821	4080	5901	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3423T>A	2.37:g.1795777A>T	ENSP00000382114:p.Asp1141Glu		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D1141E	ENST00000399161.2	37	c.3423		2	.	.	.	.	.	.	.	.	.	.	A	0.369	-0.935060	0.02340	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000428368	T;T	0.37411	1.2;1.2	5.87	4.67	0.58626	.	0.086329	0.85682	D	0.000000	T	0.08846	0.0219	N	0.00621	-1.32	0.39047	D	0.960253	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.20605	-1.0270	10	0.02654	T	1	-34.8935	6.1956	0.20548	0.7425:0.0:0.0856:0.1719	.	139;1141;1139	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	E	1141;1087;139;1139	ENSP00000382114:D1141E;ENSP00000396103:D1139E	ENSP00000295067:D1087E	D	-	3	2	MYT1L	1774784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.653000	0.37323	1.007000	0.39238	0.529000	0.55759	GAT	MYT1L	-	NULL	ENSG00000186487		0.313	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	23	0	A	NM_015025		1795777	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T	T	1795777	A	T	1795777	3	4	17	1	0	0	0	0	1	0	0	0	10145	330	12	5	141	5	MYT1L	2	1795777	Missense_Mutation	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09		1795777	241403596	33	4819											
NOL10	79954	genome.wustl.edu	37	chr2	10799328	10799328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgttccaactgccatggtCaaggcaccattaaatttcaa	12	12	7	10	0	2	0	2	0	0	0	3	0	3	0	3	2	2	3	3	2	5	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:10799328C>G	ENST00000381685.5	-	10	831	c.726G>C	c.(724-726)ttG>ttC	p.L242F	NOL10_ENST00000538384.1_Missense_Mutation_p.L216F|NOL10_ENST00000542668.1_Missense_Mutation_p.L192F|NOL10_ENST00000345985.3_Missense_Mutation_p.L242F	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	242						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTGCCATGGTCAAGGCACCAT	0.383																																																	0													86	79	81					2																	10799328		2203	4300	6503	SO:0001583	missense	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.726G>C	2.37:g.10799328C>G	ENSP00000371101:p.Leu242Phe		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L242F	ENST00000381685.5	37	c.726	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532158	0.64972	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668;ENST00000538384;ENST00000431319	T;T;T;T;T	0.65916	2.29;2.77;-0.18;2.77;1.73	5.58	2.78	0.32641	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.995;0.996;0.999	T	0.70539	-0.4844	10	0.34782	T	0.22	-0.9738	6.2001	0.20571	0.0:0.6518:0.1338:0.2144	.	216;92;242;242	B4DLV0;Q9BSC4-3;Q9BSC4;Q9BSC4-2	.;.;NOL10_HUMAN;.	F	242;242;192;216;133	ENSP00000263837:L242F;ENSP00000371101:L242F;ENSP00000437625:L192F;ENSP00000439663:L216F;ENSP00000403170:L133F	ENSP00000263837:L242F	L	-	3	2	NOL10	10716779	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.396000	0.34531	0.298000	0.22638	0.563000	0.77884	TTG	NOL10	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000115761		0.383	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	-	0	41	0	C	NM_024894		10799328	-1	tier1	-	no_errors	ENST00000381685	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	G	G	10799328	C	G	10799328	3	3	17	1	0	0	0	0	1	0	0	0	10559	825	29	5	1388	5	NOL10	2	10799328	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	9003551	10799328	232400045	34	4820											
SFRS7	6432	genome.wustl.edu	37	chr2	38973295	38973295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttagcttaccttctttttGgagatggagatctggacttt	8	18	9	6	0	2	2	0	0	2	2	2	5	2	3	1	3	2	1	1	3	2	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:38973295G>C	ENST00000313117.6	-	7	890	c.653C>G	c.(652-654)cCa>cGa	p.P218R	SRSF7_ENST00000446327.2_Intron|SRSF7_ENST00000409276.1_Missense_Mutation_p.P215R	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	218	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTTCTTTTTGGAGATGGAGA	0.393																																																	0													113	108	110					2																	38973295		2203	4300	6503	SO:0001583	missense	0			L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"Zinc fingers, CCHC domain containing", "Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10789	protein-coding gene	gene with protein product	"SR splicing factor 7"	600572	"splicing factor, arginine/serine-rich 7 (35kD)", "splicing factor, arginine/serine-rich 7, 35kDa"	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.653C>G	2.37:g.38973295G>C	ENSP00000325905:p.Pro218Arg		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	pfam_RRM_dom,superfamily_Znf_CCHC,smart_RRM_dom,pfscan_Znf_CCHC,pfscan_RRM_dom	p.P218R	ENST00000313117.6	37	c.653	CCDS33183.1	2	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781599	0.49891	.	.	ENSG00000115875	ENST00000313117;ENST00000409276	T;T	0.13307	2.6;3.06	6.16	5.29	0.74685	.	0.000000	0.64402	D	0.000002	T	0.05640	0.0148	N	0.04260	-0.245	0.80722	D	1	P	0.42039	0.769	B	0.37387	0.248	T	0.37820	-0.9689	10	0.07482	T	0.82	.	12.2577	0.54633	0.1349:0.0:0.8651:0.0	.	218	Q16629	SRSF7_HUMAN	R	218;215	ENSP00000325905:P218R;ENSP00000386806:P215R	ENSP00000325905:P218R	P	-	2	0	SRSF7	38826799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.202000	0.58446	1.616000	0.50265	0.650000	0.86243	CCA	SRSF7	-	NULL	ENSG00000115875		0.393	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF7	HGNC	protein_coding	OTTHUMT00000219889.2	-	0	46	0	G	NM_001031684		38973295	-1	tier1	-	no_errors	ENST00000313117	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	C	C	38973295	G	C	38973295	3	2	17	1	0	0	0	0	1	0	0	0	14227	1348	47	5	71	5	SFRS7	2	38973295	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	28173967	38973295	204226078	35	4821											
ABCG5	64240	genome.wustl.edu	37	chr2	44065707	44065707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcatggaggatgcccaGgctgtgaggctccggggcgg	6	5	21	9	2	0	1	0	1	0	0	1	4	1	4	2	9	1	3	2	9	0	0	rs375829761		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:44065707G>A	ENST00000260645.1	-	1	251	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_5'UTR|ABCG8_ENST00000272286.2_5'Flank	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	38					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AGGATGCCCAGGCTGTGAGGC	0.677																																																	0													11	13	12					2																	44065707		2199	4284	6483	SO:0001819	synonymous_variant	0			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"ATP binding cassette transporters / subfamily G"	13886	protein-coding gene	gene with protein product	"sterolin 1"	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.112C>T	2.37:g.44065707G>A			Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L38	ENST00000260645.1	37	c.112	CCDS1814.1	2																																																																																			ABCG5	-	NULL	ENSG00000138075		0.677	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	-	0	60	0	G	NM_022436		44065707	-1	tier1	-	no_errors	ENST00000260645	ensembl	human	known	74_37	silent	11.48	54	7	SNP	0.997	A	A	44065707	G	A	44065707	2	1	17	1	0	0	0	0	0	0	0	1	71	991	35	3		3	ABCG5	2	44065707	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	5092412	44065707	199133666	36	4822											
CCDC88A	55704	genome.wustl.edu	37	chr2	55544775	55544775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatgtttagagataagaGattcatactctgaagcctga	13	13	8	7	0	2	4	1	2	1	2	3	6	3	4	2	0	2	1	2	0	4	6	rs375580003		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:55544775G>C	ENST00000436346.1	-	20	4368	c.3527C>G	c.(3526-3528)tCt>tGt	p.S1176C	CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1176C|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1175C|AC012358.8_ENST00000366287.4_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1175C|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1176					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGAGATAAGAGATTCATACTC	0.373																																																	0													69	74	72					2																	55544775		2203	4300	6503	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3527C>G	2.37:g.55544775G>C	ENSP00000410608:p.Ser1176Cys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.S1176C	ENST00000436346.1	37	c.3527		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.356404|4.356404	0.82243|0.82243	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;T;T;T	.|0.47177	.|2.43;2.66;2.65;0.85;2.44;1.39	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.143791	.|0.32068	.|U	.|0.006624	T|T	0.63522|0.63522	0.2518|0.2518	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|P;D;P;D;D;D	.|0.61080	.|0.944;0.989;0.943;0.966;0.98;0.989	.|P;D;B;P;P;P	.|0.63877	.|0.662;0.919;0.376;0.662;0.846;0.891	T|T	0.61783|0.61783	-0.6992|-0.6992	5|10	.|0.59425	.|D	.|0.04	-5.5054|-5.5054	20.3172|20.3172	0.98658|0.98658	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1175;1176;1121;1176;1175;1175	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	M|C	156|1175;1176;1176;221;1175;351	.|ENSP00000338728:S1175C;ENSP00000263630:S1176C;ENSP00000410608:S1176C;ENSP00000390012:S221C;ENSP00000404431:S1175C;ENSP00000405080:S351C	.|ENSP00000263630:S1176C	I|S	-|-	3|2	3|0	CCDC88A|CCDC88A	55398279|55398279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.746000|7.746000	0.85057|0.85057	2.801000|2.801000	0.96364|0.96364	0.650000|0.650000	0.86243|0.86243	ATC|TCT	CCDC88A	-	NULL	ENSG00000115355		0.373	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding			0	31	0	G	NM_017571		55544775	-1			no_errors	ENST00000436346	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	C	C	55544775	G	C	55544775	3	2	17	1	0	0	0	0	1	0	0	0	2870	942	33	5	2140	5	CCDC88A	2	55544775	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11479068	55544775	187654598	37	4823											
RTKN	6242	genome.wustl.edu	37	chr2	74657797	74657797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagcgggcgggccactgtCagaaggcctgtggataaatc	9	7	14	11	2	2	1	2	0	0	1	3	2	2	2	2	4	1	0	2	4	3	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:74657797C>G	ENST00000233330.6	-	3	486	c.169G>C	c.(169-171)Gac>Cac	p.D57H	RTKN_ENST00000305557.5_Missense_Mutation_p.D94H|RTKN_ENST00000272430.5_Missense_Mutation_p.D107H|RTKN_ENST00000484453.1_5'Flank	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						GGGCCACTGTCAGAAGGCCTG	0.627																																																	0													29	36	33					2																	74657797		2200	4300	6500	SO:0001583	missense	0			AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"Pleckstrin homology (PH) domain containing"	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.169G>C	2.37:g.74657797C>G	ENSP00000233330:p.Asp57His			Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D107H	ENST00000233330.6	37	c.319	CCDS42699.1	2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542341	0.45280	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.35048	1.34;1.33;1.34	4.81	4.81	0.61882	.	0.290535	0.37095	N	0.002242	T	0.26122	0.0637	N	0.22421	0.69	0.58432	D	0.999992	B;B	0.20887	0.049;0.016	B;B	0.21151	0.033;0.018	T	0.04796	-1.0926	10	0.40728	T	0.16	.	13.2592	0.60097	0.0:1.0:0.0:0.0	.	107;94	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	H	94;107;57	ENSP00000305298:D94H;ENSP00000272430:D107H;ENSP00000233330:D57H	ENSP00000233330:D57H	D	-	1	0	RTKN	74511305	0.992000	0.36948	0.996000	0.52242	0.907000	0.53573	3.755000	0.55197	2.476000	0.83614	0.655000	0.94253	GAC	RTKN	-	NULL	ENSG00000114993		0.627	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	RTKN	HGNC	protein_coding	OTTHUMT00000328236.3	-	0	60	0	C	NM_001015055		74657797	-1	tier1	-	no_errors	ENST00000272430	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.996	G	G	74657797	C	G	74657797	3	3	17	1	0	0	0	0	1	0	0	0	13767	826	29	5	1412	5	RTKN	2	74657797	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	19113022	74657797	168541576	38	4824											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746526	77746526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcaaaatgatgagtttccGaaggcctttaaattgttcag	12	13	10	6	1	1	2	1	2	0	0	2	3	2	2	2	1	1	3	2	1	5	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:77746526G>A	ENST00000409093.1	-	3	805	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	LRRTM4_ENST00000409884.1_Missense_Mutation_p.R157W|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R158W|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R157W|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R158W			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	157					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATGAGTTTCCGAAGGCCTTTA	0.393																																																	0													70	65	67					2																	77746526		1845	4081	5926	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.469C>T	2.37:g.77746526G>A	ENSP00000386357:p.Arg157Trp		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R158W	ENST00000409093.1	37	c.472	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800335	0.70567	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.46819	1.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00079	-1.2111	10	0.48119	T	0.1	.	18.5348	0.91006	0.0:0.0:1.0:0.0	.	158;157;157	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	W	158;157;157;157;158	ENSP00000387228:R158W;ENSP00000387297:R157W;ENSP00000386357:R157W;ENSP00000386236:R157W;ENSP00000386286:R158W	ENSP00000386236:R157W	R	-	1	2	LRRTM4	77600034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.723000	0.93209	0.563000	0.77884	CGG	LRRTM4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.393	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	44	0	G	NM_024993		77746526	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	77746526	G	A	77746526	3	1	17	1	0	0	0	0	1	0	0	0	9077	1057	37	1	1317	1	LRRTM4	2	77746526	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	3088729	77746526	165452847	39	4825											
REG1A	5967	genome.wustl.edu	37	chr2	79349978	79349978	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccatctagaaccgccgctgGcactggagcagtgggtccct	7	7	12	15	2	1	1	0	0	1	1	2	2	2	2	4	3	2	3	4	3	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:79349978G>A	ENST00000233735.1	+	5	436	c.333G>A	c.(331-333)tgG>tgA	p.W111*		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCGCCGCTGGCACTGGAGCA	0.552																																																	0													110	110	110					2																	79349978		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"pancreatic stone protein", "pancreatic thread protein"	167770	"regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.333G>A	2.37:g.79349978G>A	ENSP00000233735:p.Trp111*		P11379|Q4ZG28	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.W111*	ENST00000233735.1	37	c.333	CCDS1964.1	2	.	.	.	.	.	.	.	.	.	.	g	21.0	4.085068	0.76642	.	.	ENSG00000115386	ENST00000233735	.	.	.	2.92	2.92	0.33932	.	0.000000	0.36740	N	0.002434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4067	0.38466	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000233735:W111X	W	+	3	0	REG1A	79203486	0.611000	0.26992	0.993000	0.49108	0.871000	0.50021	1.536000	0.36072	1.637000	0.50538	0.557000	0.71058	TGG	REG1A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000115386		0.552	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	HGNC	protein_coding	OTTHUMT00000252289.1	-	0	31	0	G	NM_002909		79349978	1	tier1	-	no_errors	ENST00000233735	ensembl	human	known	74_37	nonsense	10.87	41	5	SNP	0.962	A	A	79349978	G	A	79349978	4	1	17	1	0	0	0	0	0	1	0	0	13255	1212	42	3	347	3	REG1A	2	79349978	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1603452	79349978	163849395	40	4826											
PTCD3	55037	genome.wustl.edu	37	chr2	86361473	86361473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaagagatcctgatgctCatggcaagggacaagcaccc	14	5	12	10	0	1	3	1	1	0	2	2	6	2	4	2	2	2	3	2	2	3	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:86361473C>T	ENST00000254630.7	+	20	1668	c.1602C>T	c.(1600-1602)ctC>ctT	p.L534L	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	534					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.L534L(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TCCTGATGCTCATGGCAAGGG	0.448																																																	1	Substitution - coding silent(1)	lung(1)											105	88	94					2																	86361473		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1602C>T	2.37:g.86361473C>T			A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Silent	SNP	NULL	p.L534	ENST00000254630.7	37	c.1602	CCDS33235.1	2																																																																																			PTCD3	-	NULL	ENSG00000132300		0.448	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD3	HGNC	protein_coding	OTTHUMT00000329854.1	-	0	52	0	C	NM_017952		86361473	1	tier1	-	no_errors	ENST00000254630	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.999	T	T	86361473	C	T	86361473	2	4	17	1	0	0	0	0	0	0	0	1	12771	813	29	3		3	PTCD3	2	86361473	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	7011495	86361473	156837900	41	4827											
SLC9A4	389015	genome.wustl.edu	37	chr2	103141509	103141509	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctacaacaaatacaacctCaaaccccaaacaagtgagaa	20	5	3	13	0	1	1	1	1	0	1	2	2	2	1	4	0	6	0	4	0	9	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:103141509C>G	ENST00000295269.4	+	10	2302	c.1845C>G	c.(1843-1845)ctC>ctG	p.L615L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	615					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AATACAACCTCAAACCCCAAA	0.483																																																	0													190	204	199					2																	103141509		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1845C>G	2.37:g.103141509C>G			Q69YK0	Silent	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.L615	ENST00000295269.4	37	c.1845	CCDS33264.1	2																																																																																			SLC9A4	-	tigrfam_NaH_exchanger	ENSG00000180251		0.483	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	-	0	39	0	C	NM_001011552.3		103141509	1	tier1	-	no_errors	ENST00000295269	ensembl	human	known	74_37	silent	9.72	65	7	SNP	0.038	G	G	103141509	C	G	103141509	2	3	17	1	0	0	0	0	0	0	0	1	14761	813	29	5		5	SLC9A4	2	103141509	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	16780036	103141509	140057864	42	4828											
LRP1B	53353	genome.wustl.edu	37	chr2	141143523	141143523	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatcacaccgccagtgatcGggaatacagttgttgttttt	9	14	9	9	2	1	1	1	1	0	0	2	2	1	2	2	1	1	3	2	1	3	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:141143523G>T	ENST00000389484.3	-	67	11441	c.10470C>A	c.(10468-10470)ccC>ccA	p.P3490P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3490	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.P3490P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCAGTGATCGGGAATACAGT	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - coding silent(1)	endometrium(1)											147	138	141					2																	141143523		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10470C>A	2.37:g.141143523G>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P3490	ENST00000389484.3	37	c.10470	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	36	0	G	NM_018557		141143523	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	26.09	34	12	SNP	0.994	T	T	141143523	G	T	141143523	2	4	17	1	0	0	0	0	0	0	0	1	8990	1103	39	2		2	LRP1B	2	141143523	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	38002014	141143523	102055850	43	4829											
COBLL1	22837	genome.wustl.edu	37	chr2	165561596	165561596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtgaacctgccctcactCttcctgcttcacagggactc	7	10	8	16	0	3	1	2	1	1	0	5	2	4	2	3	1	3	2	3	1	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:165561596C>G	ENST00000392717.2	-	8	1134	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T	COBLL1_ENST00000491126.2_5'UTR|COBLL1_ENST00000194871.6_Missense_Mutation_p.R405T|COBLL1_ENST00000409184.3_Missense_Mutation_p.R377T|COBLL1_ENST00000342193.4_Missense_Mutation_p.R339T|COBLL1_ENST00000375458.2_Missense_Mutation_p.R339T			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	377						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGCCCTCACTCTTCCTGCTTC	0.443																																																	0													78	73	75					2																	165561596		2203	4300	6503	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1130G>C	2.37:g.165561596C>G	ENSP00000376478:p.Arg377Thr		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.R405T	ENST00000392717.2	37	c.1214		2	.	.	.	.	.	.	.	.	.	.	C	1.984	-0.433464	0.04669	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.31	0.108	0.14548	Cordon-bleu domain (1);	1.083790	0.06915	N	0.808399	T	0.33411	0.0862	L	0.36672	1.1	0.09310	N	1	P;P;P	0.36282	0.546;0.546;0.491	B;B;B	0.39027	0.288;0.288;0.19	T	0.24083	-1.0170	9	0.12766	T	0.61	0.0163	9.9821	0.41819	0.3863:0.5442:0.0695:0.0	.	377;405;377	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	T	339;339;377;377;405	.	ENSP00000194871:R405T	R	-	2	0	COBLL1	165269842	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.987000	0.29603	-0.136000	0.11475	-1.216000	0.01612	AGA	COBLL1	-	pfam_Cordon-bleu_ubiquitin_domain	ENSG00000082438		0.443	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		-	0	24	0	C	NM_014900		165561596	-1	tier1	-	no_errors	ENST00000194871	ensembl	human	known	74_37	missense	15.09	45	8	SNP	0.001	G	G	165561596	C	G	165561596	3	3	17	1	0	0	0	0	1	0	0	0	3661	913	32	5	2516	5	COBLL1	2	165561596	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	24418073	165561596	77637777	44	4830											
TTC21B	79809	genome.wustl.edu	37	chr2	166788351	166788351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatgtatttcccaagttttCcagcttggtggaagcctaaa	11	13	8	9	0	0	0	0	0	0	0	2	1	2	1	3	2	2	3	3	2	6	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:166788351C>G	ENST00000243344.7	-	8	948	c.811G>C	c.(811-813)Gaa>Caa	p.E271Q	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	271					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CCCAAGTTTTCCAGCTTGGTG	0.368																																																	0													130	119	123					2																	166788351		2203	4300	6503	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.811G>C	2.37:g.166788351C>G	ENSP00000243344:p.Glu271Gln		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E271Q	ENST00000243344.7	37	c.811	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	C	2.196	-0.384120	0.04966	.	.	ENSG00000123607	ENST00000243344	T	0.52057	0.68	5.48	5.48	0.80851	Tetratricopeptide-like helical (1);	0.252521	0.40554	N	0.001062	T	0.22666	0.0547	N	0.10945	0.07	0.80722	D	1	P;P	0.47106	0.89;0.586	B;B	0.40506	0.331;0.146	T	0.31752	-0.9932	10	0.02654	T	1	-13.2035	9.0779	0.36534	0.1491:0.7737:0.0:0.0772	.	271;271	Q7Z4L5-2;Q7Z4L5	.;TT21B_HUMAN	Q	271	ENSP00000243344:E271Q	ENSP00000243344:E271Q	E	-	1	0	TTC21B	166496597	1.000000	0.71417	0.985000	0.45067	0.055000	0.15305	1.242000	0.32755	2.554000	0.86153	0.655000	0.94253	GAA	TTC21B	-	NULL	ENSG00000123607		0.368	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0	69	0	C	NM_024753		166788351	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	11.76	90	12	SNP	0.975	G	G	166788351	C	G	166788351	3	3	17	1	0	0	0	0	1	0	0	0	16737	864	30	5	3227	5	TTC21B	2	166788351	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1226755	166788351	76411022	45	4831											
XIRP2	129446	genome.wustl.edu	37	chr2	168101829	168101829	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtaatacagggtgatgtAaaaagctacagaatgctctt	16	10	10	5	0	1	2	0	1	1	1	1	3	1	2	0	1	4	4	0	1	8	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:168101829A>G	ENST00000409195.1	+	9	4016	c.3927A>G	c.(3925-3927)gtA>gtG	p.V1309V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1087V|XIRP2_ENST00000295237.9_Silent_p.V1309V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1134					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGGTGATGTAAAAAGCTACA	0.358																																																	0													72	68	69					2																	168101829		1853	4100	5953	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3927A>G	2.37:g.168101829A>G			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.V1309	ENST00000409195.1	37	c.3927	CCDS42769.1	2																																																																																			XIRP2	-	pfam_Actin-binding_Xin_repeat	ENSG00000163092		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	62	0	A	NM_152381		168101829	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	12.86	61	9	SNP	1.000	G	G	168101829	A	G	168101829	2	3	17	1	0	0	0	0	0	0	0	1	17479	349	13	4		4	XIRP2	2	168101829	Silent	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09	1313478	168101829	75097544	46	4832											
ABCB11	8647	genome.wustl.edu	37	chr2	169870832	169870832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaattgaaagaagccaactCtaacgccatcacctttcttc	13	10	4	14	1	3	2	1	1	2	1	4	2	3	2	4	0	3	0	4	0	5	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:169870832C>G	ENST00000263817.6	-	4	255	c.131G>C	c.(130-132)aGa>aCa	p.R44T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	44					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GAAGCCAACTCTAACGCCATC	0.383																																																	0													280	260	267					2																	169870832		1873	4110	5983	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.131G>C	2.37:g.169870832C>G	ENSP00000263817:p.Arg44Thr		Q53TL2|Q9UNB2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R44T	ENST00000263817.6	37	c.131	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.312745	0.01331	.	.	ENSG00000073734	ENST00000263817	D	0.86297	-2.1	4.89	-5.66	0.02451	ABC transporter, transmembrane domain, type 1 (1);	1.685400	0.03424	N	0.206719	T	0.70954	0.3283	N	0.08118	0	0.31335	N	0.684306	B	0.29188	0.236	B	0.26969	0.075	T	0.62153	-0.6914	10	0.11485	T	0.65	-9.749	10.7974	0.46468	0.1122:0.7122:0.0:0.1755	.	44	O95342	ABCBB_HUMAN	T	44	ENSP00000263817:R44T	ENSP00000263817:R44T	R	-	2	0	ABCB11	169579078	0.060000	0.20803	0.014000	0.15608	0.035000	0.12851	-0.253000	0.08794	-1.195000	0.02680	-0.794000	0.03295	AGA	ABCB11	-	superfamily_ABC1_TM_dom	ENSG00000073734		0.383	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	-	0	46	0	C	NM_003742		169870832	-1	tier1	-	no_errors	ENST00000263817	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.163	G	G	169870832	C	G	169870832	3	3	17	1	0	0	0	0	1	0	0	0	42	913	32	5	3934	5	ABCB11	2	169870832	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1769003	169870832	73328541	47	4833											
TTC30B	150737	genome.wustl.edu	37	chr2	178417447	178417447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggcggtacacgaccgcGgtgaactccccgtcggggat	8	6	15	12	6	0	2	0	2	0	0	2	4	1	3	3	5	2	1	3	5	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:178417447G>A	ENST00000408939.3	-	1	295	c.45C>T	c.(43-45)acC>acT	p.T15T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	15					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ACACGACCGCGGTGAACTCCC	0.672																																																	0													7	8	8					2																	178417447		2044	4153	6197	SO:0001819	synonymous_variant	0			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.45C>T	2.37:g.178417447G>A			Q63HQ1|Q96NE6	Silent	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.T15	ENST00000408939.3	37	c.45	CCDS42784.1	2																																																																																			TTC30B	-	pfscan_TPR-contain_dom	ENSG00000196659		0.672	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	-	0	53	0	G	NM_152517		178417447	-1	tier1	-	no_errors	ENST00000408939	ensembl	human	known	74_37	silent	23.53	39	12	SNP	0.059	A	A	178417447	G	A	178417447	2	1	17	1	0	0	0	0	0	0	0	1	16748	1103	39	1		1	TTC30B	2	178417447	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	8546615	178417447	64781926	48	4834											
OSBPL6	114880	genome.wustl.edu	37	chr2	179197727	179197727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttcaacgtccacagctGaatcctcaccagctgctaat	10	11	5	15	1	2	1	2	1	0	0	5	1	5	1	4	0	4	3	4	0	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:179197727G>C	ENST00000190611.4	+	8	992	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q	OSBPL6_ENST00000315022.2_Missense_Mutation_p.E185Q|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E206Q|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E206Q|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E206Q|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E206Q|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E206Q	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	206					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCCACAGCTGAATCCTCACC	0.383																																																	0													96	84	88					2																	179197727		2203	4300	6503	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.616G>C	2.37:g.179197727G>C	ENSP00000190611:p.Glu206Gln		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E185Q	ENST00000190611.4	37	c.553	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612807	0.87258	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.12569	2.7;2.7;2.67;2.69;2.68;2.7;2.7	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.38531	1.155	0.80722	D	1	B;D;D;D;P;D	0.61080	0.024;0.975;0.989;0.975;0.935;0.986	B;P;D;P;P;P	0.70487	0.022;0.87;0.969;0.87;0.575;0.844	T	0.00391	-1.1769	10	0.30854	T	0.27	-20.9883	19.9215	0.97087	0.0:0.0:1.0:0.0	.	206;185;206;206;206;206	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	Q	206;206;206;206;206;206;185	ENSP00000376293:E206Q;ENSP00000352713:E206Q;ENSP00000349591:E206Q;ENSP00000387248:E206Q;ENSP00000190611:E206Q;ENSP00000386885:E206Q;ENSP00000318723:E185Q	ENSP00000190611:E206Q	E	+	1	0	OSBPL6	178905973	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.216000	0.77974	2.785000	0.95823	0.655000	0.94253	GAA	OSBPL6	-	NULL	ENSG00000079156		0.383	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2		0	36	0	G	NM_032523		179197727	1			no_errors	ENST00000315022	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	C	C	179197727	G	C	179197727	3	2	17	1	0	0	0	0	1	0	0	0	11320	1291	45	5	681	5	OSBPL6	2	179197727	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	780280	179197727	64001646	49	4835											
TTN	7273	genome.wustl.edu	37	chr2	179399355	179399355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaagtgaccacatgtctGtggctgtgctgacaacatca	10	11	9	11	0	2	2	1	2	1	0	3	2	3	2	2	1	2	2	2	1	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:179399355G>T	ENST00000591111.1	-	308	97288	c.97064C>A	c.(97063-97065)aCa>aAa	p.T32355K	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31428K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T24931K|TTN_ENST00000359218.5_Missense_Mutation_p.T25056K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25123K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T33996K			Q8WZ42	TITIN_HUMAN	titin	32355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACATGTCTGTGGCTGTGCT	0.468																																																	0													116	113	114					2																	179399355		2022	4199	6221	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97064C>A	2.37:g.179399355G>T	ENSP00000465570:p.Thr32355Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T31428K	ENST00000591111.1	37	c.94283		2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597890	0.66332	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71484	0.3345	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74919	-0.3500	9	0.87932	D	0	.	19.3087	0.94175	0.0:0.0:1.0:0.0	.	24931;25056;25123;32355	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31428;24931;25123;25056;24928	ENSP00000343764:T31428K;ENSP00000434586:T24931K;ENSP00000340554:T25123K;ENSP00000352154:T25056K	ENSP00000340554:T25123K	T	-	2	0	TTN	179107601	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.837000	0.99465	2.857000	0.98124	0.650000	0.86243	ACA	TTN	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	79	0	G	NM_133378		179399355	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9.89	82	9	SNP	1.000	T	T	179399355	G	T	179399355	3	4	17	1	0	0	0	0	1	0	0	0	16784	1377	48	3	6012	3	TTN	2	179399355	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	201628	179399355	63800018	50	4836											
DNAH7	56171	genome.wustl.edu	37	chr2	196912149	196912149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgccctttgatttggaagTagatggtccaacataactat	11	15	8	7	0	0	2	0	1	0	1	1	3	1	3	2	2	3	1	2	2	5	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:196912149T>C	ENST00000312428.6	-	5	425	c.325A>G	c.(325-327)Act>Gct	p.T109A	DNAH7_ENST00000410072.1_Missense_Mutation_p.T109A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	109	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATTTGGAAGTAGATGGTCCA	0.333																																																	0													190	188	188					2																	196912149		1845	4083	5928	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.325A>G	2.37:g.196912149T>C	ENSP00000311273:p.Thr109Ala		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.T109A	ENST00000312428.6	37	c.325	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575558	0.28092	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.21031	2.03;2.85	4.35	1.89	0.25635	.	0.379213	0.23217	N	0.050618	T	0.11537	0.0281	L	0.36672	1.1	0.23076	N	0.998333	B	0.06786	0.001	B	0.04013	0.001	T	0.34950	-0.9808	10	0.08179	T	0.78	.	4.3708	0.11246	0.0:0.1042:0.2019:0.6939	.	109	Q8WXX0	DYH7_HUMAN	A	109;109;109;84	ENSP00000311273:T109A;ENSP00000386260:T109A	ENSP00000311273:T109A	T	-	1	0	DNAH7	196620394	0.997000	0.39634	0.775000	0.31657	0.238000	0.25445	2.026000	0.41069	0.407000	0.25591	0.482000	0.46254	ACT	DNAH7	-	NULL	ENSG00000118997		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	52	0	T	NM_018897		196912149	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	15.29	72	13	SNP	0.846	C	C	196912149	T	C	196912149	3	2	17	1	0	0	0	0	1	0	0	0	4620	1638	57	4	11993	4	DNAH7	2	196912149	Missense_Mutation	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09	17512794	196912149	46287224	51	4837											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209182630	209182630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgattctgtggttgtcaatGgctttgtttgtaccaagaac	8	17	10	6	0	2	2	1	1	1	1	2	2	2	2	1	2	2	4	1	2	4	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:209182630G>T	ENST00000264380.4	+	16	2205	c.2047G>T	c.(2047-2049)Ggc>Tgc	p.G683C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	683					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTTGTCAATGGCTTTGTTTG	0.358																																																	0													202	191	195					2																	209182630		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2047G>T	2.37:g.209182630G>T	ENSP00000264380:p.Gly683Cys		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.G683C	ENST00000264380.4	37	c.2047	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971737	0.92919	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	D;D	0.94793	-3.52;-3.52	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.98015	0.9346	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98323	1.0529	10	0.87932	D	0	-17.091	20.2617	0.98447	0.0:0.0:1.0:0.0	.	683;627	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	683;259;627	ENSP00000264380:G683C;ENSP00000405736:G627C	ENSP00000264380:G683C	G	+	1	0	PIKFYVE	208890875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GGC	PIKFYVE	-	pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000115020		0.358	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0	60	0	G	NM_015040		209182630	1			no_errors	ENST00000264380	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	209182630	G	T	209182630	3	4	17	1	0	0	0	0	1	0	0	0	11963	1348	47	3	2116	3	PIKFYVE	2	209182630	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	12270481	209182630	34016743	52	4838											
SCG2	7857	genome.wustl.edu	37	chr2	224463090	224463090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactttggagacatcatctGagagttggtctttactctct	8	17	8	8	0	4	2	1	1	3	2	5	4	4	2	0	2	2	1	0	2	2	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:224463090G>A	ENST00000305409.2	-	2	1143	c.911C>T	c.(910-912)tCa>tTa	p.S304L		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0	Interaction with FANCD2.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACATCATCTGAGAGTTGGTC	0.428																																																	0													146	146	146					2																	224463090		2203	4300	6503	SO:0001583	missense	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.911C>T	2.37:g.224463090G>A	ENSP00000304133:p.Ser304Leu		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.S304L	ENST00000305409.2	37	c.911	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223717	0.79576	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01933	4.55	5.6	5.6	0.85130	.	0.070649	0.64402	D	0.000017	T	0.11707	0.0285	M	0.64997	1.995	0.58432	D	0.99999	D	0.69078	0.997	D	0.69142	0.962	T	0.00157	-1.1977	10	0.72032	D	0.01	.	19.6177	0.95640	0.0:0.0:1.0:0.0	.	304	P13521	SCG2_HUMAN	L	304;164	ENSP00000304133:S304L	ENSP00000304133:S304L	S	-	2	0	SCG2	224171334	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.193000	0.72075	2.632000	0.89209	0.650000	0.86243	TCA	SCG2	-	pfam_Granin	ENSG00000171951		0.428	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0	41	0	G	NM_003469		224463090	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	A	A	224463090	G	A	224463090	3	1	17	1	0	0	0	0	1	0	0	0	13936	1294	45	3	946	3	SCG2	2	224463090	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	15280460	224463090	18736283	53	4839											
COL4A4	1286	genome.wustl.edu	37	chr2	227896937	227896937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctcccagggtctcctctCtccccttttagcccaggtat	4	12	9	16	0	2	0	0	0	2	0	6	0	4	0	5	3	1	2	5	3	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:227896937C>G	ENST00000396625.3	-	39	3840	c.3633G>C	c.(3631-3633)gaG>gaC	p.E1211D	COL4A4_ENST00000329662.7_Missense_Mutation_p.E1211D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1211	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGTCTCCTCTCTCCCCTTTTA	0.517																																																	0													48	50	50					2																	227896937		1847	4093	5940	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3633G>C	2.37:g.227896937C>G	ENSP00000379866:p.Glu1211Asp		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.E1211D	ENST00000396625.3	37	c.3633	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852859	0.32699	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94232	-3.38;-3.24	5.41	3.58	0.41010	.	.	.	.	.	D	0.85788	0.5778	N	0.25647	0.755	0.32745	N	0.507187	B	0.12630	0.006	B	0.15484	0.013	T	0.80466	-0.1370	9	0.20046	T	0.44	.	6.1813	0.20472	0.1854:0.7209:0.0:0.0936	.	1211	P53420	CO4A4_HUMAN	D	1211	ENSP00000379866:E1211D;ENSP00000328553:E1211D	ENSP00000328553:E1211D	E	-	3	2	COL4A4	227605181	0.064000	0.20934	0.780000	0.31762	0.963000	0.63663	0.232000	0.17891	1.267000	0.44247	0.650000	0.86243	GAG	COL4A4	-	pfam_Collagen	ENSG00000081052		0.517	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1		0	22	0	C	NM_000092		227896937	-1			no_errors	ENST00000396625	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.734	G	G	227896937	C	G	227896937	3	3	17	1	0	0	0	0	1	0	0	0	3700	912	32	5	1479	5	COL4A4	2	227896937	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3433847	227896937	15302436	54	4840											
SP100	6672	genome.wustl.edu	37	chr2	231307706	231307706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctctatgacattgtattCaagcacttcaaaagaaataa	16	12	5	8	0	3	2	2	1	1	1	3	2	3	2	0	0	2	3	0	0	7	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr2:231307706C>G	ENST00000264052.5	+	3	517	c.162C>G	c.(160-162)ttC>ttG	p.F54L	SP100_ENST00000340126.4_Missense_Mutation_p.F54L|SP100_ENST00000409341.1_Missense_Mutation_p.F54L|SP100_ENST00000409112.1_Missense_Mutation_p.F54L|SP100_ENST00000409824.1_Missense_Mutation_p.F29L|SP100_ENST00000409897.1_Missense_Mutation_p.F19L|SP100_ENST00000341950.4_Missense_Mutation_p.F54L|SP100_ENST00000427101.2_Missense_Mutation_p.F29L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	54	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACATTGTATTCAAGCACTTCA	0.408																																																	0													125	125	125					2																	231307706		2203	4300	6503	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.162C>G	2.37:g.231307706C>G	ENSP00000264052:p.Phe54Leu		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.F54L	ENST00000264052.5	37	c.162	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689596	0.48097	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	D;D;D;D;D;D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96;-2.96	4.08	-2.58	0.06228	Sp100 (2);	.	.	.	.	D	0.90693	0.7080	L	0.49256	1.55	0.09310	N	1	P;P;P;P;P;P;B;P	0.50617	0.923;0.898;0.937;0.725;0.844;0.561;0.394;0.923	P;P;P;P;P;B;P;P	0.57720	0.569;0.754;0.794;0.696;0.826;0.207;0.708;0.69	T	0.81302	-0.0994	9	0.34782	T	0.22	.	3.2922	0.06953	0.4559:0.2561:0.0:0.288	.	29;54;19;54;54;54;29;54	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	L	54;29;29;29;54;54;54;54;19	ENSP00000264052:F54L;ENSP00000399389:F29L;ENSP00000391616:F29L;ENSP00000387311:F29L;ENSP00000386404:F54L;ENSP00000386427:F54L;ENSP00000343023:F54L;ENSP00000342729:F54L;ENSP00000386998:F19L	ENSP00000264052:F54L	F	+	3	2	SP100	231015950	0.003000	0.15002	0.000000	0.03702	0.031000	0.12232	0.085000	0.14912	-0.559000	0.06110	0.563000	0.77884	TTC	SP100	-	pfam_Sp100	ENSG00000067066		0.408	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	-	0	53	0	C	NM_003113		231307706	1	tier1	-	no_errors	ENST00000340126	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	G	G	231307706	C	G	231307706	3	3	17	1	0	0	0	0	1	0	0	0	15005	825	29	5	172	5	SP100	2	231307706	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3410769	231307706	11891667	55	4841											
EPM2AIP1	9852	genome.wustl.edu	37	chr3	37033360	37033360	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaaggcagcagcagcaaaGactttactaactcgtaattc	15	9	7	10	1	1	1	1	0	0	1	3	1	1	1	0	1	5	5	0	1	5	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:37033360G>C	ENST00000322716.5	-	1	1435	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000536378.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	403					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CAGCAGCAAAGACTTTACTAA	0.388																																																	0													103	105	105					3																	37033360		1906	4107	6013	SO:0001819	synonymous_variant	0			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1209C>G	3.37:g.37033360G>C			O94866|Q9H3L3	Silent	SNP	NULL	p.V403	ENST00000322716.5	37	c.1209	CCDS46790.1	3																																																																																			EPM2AIP1	-	NULL	ENSG00000178567		0.388	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPM2AIP1	HGNC	protein_coding	OTTHUMT00000470593.1		0	23	0	G	NM_014805		37033360	-1			no_errors	ENST00000322716	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.109	C	C	37033360	G	C	37033360	2	2	17	1	0	0	0	0	0	0	0	1	5200	929	33	5		5	EPM2AIP1	3	37033360	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		37033360	160989070	56	4842											
DNAH12	201625	genome.wustl.edu	37	chr3	57399535	57399535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgagctccatacttctcCaatgcaggcatattcatatc	10	13	7	11	0	2	1	1	1	1	0	5	1	3	1	2	2	3	4	2	2	4	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:57399535C>T	ENST00000351747.2	-	39	6081	c.5901G>A	c.(5899-5901)ttG>ttA	p.L1967L		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1967	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATACTTCTCCAATGCAGGCA	0.348																																																	0													123	106	111					3																	57399535		692	1590	2282	SO:0001819	synonymous_variant	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.5901G>A	3.37:g.57399535C>T			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1967	ENST00000351747.2	37	c.5901		3																																																																																			DNAH12	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000174844		0.348	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding			0	24	0	C	NM_178504		57399535	-1			no_errors	ENST00000351747	ensembl	human	known	74_37	silent	11.54	23	3	SNP	1.000	T	T	57399535	C	T	57399535	2	4	17	1	0	0	0	0	0	0	0	1	4614	593	21	3		3	DNAH12	3	57399535	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	20366175	57399535	140622895	57	4843											
EPHA3	2042	genome.wustl.edu	37	chr3	89445061	89445061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgtcctggcaagaacctGaacatcctaatgggatcata	12	11	8	10	0	1	2	1	1	0	1	3	3	3	3	3	2	2	1	3	2	5	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:89445061G>A	ENST00000336596.2	+	6	1606	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E461K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E461K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	461	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.E461*(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCAAGAACCTGAACATCCTAA	0.458										TSP Lung(6;0.00050)																																							2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)											193	181	185					3																	89445061		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1381G>A	3.37:g.89445061G>A	ENSP00000337451:p.Glu461Lys		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E461K	ENST00000336596.2	37	c.1381	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018660	0.93404	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.56611	0.45;0.45;0.45	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63780	0.2540	L	0.31120	0.905	0.80722	D	1	D;P	0.76494	0.999;0.57	D;B	0.81914	0.995;0.202	T	0.57957	-0.7721	9	.	.	.	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	461;461	P29320;P29320-2	EPHA3_HUMAN;.	K	461	ENSP00000337451:E461K;ENSP00000399926:E461K;ENSP00000419190:E461K	.	E	+	1	0	EPHA3	89527751	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.019000	0.88732	2.826000	0.97356	0.655000	0.94253	GAA	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1		0	26	0	G	NM_005233		89445061	1			no_errors	ENST00000336596	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	A	A	89445061	G	A	89445061	3	1	17	1	0	0	0	0	1	0	0	0	5184	1291	45	3	1403	3	EPHA3	3	89445061	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	32045526	89445061	108577369	58	4844											
KALRN	8997	genome.wustl.edu	37	chr3	124132352	124132352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgcctggaatgaagacttGcttcggcagatgaatgactt	11	10	12	8	2	0	5	0	3	0	2	1	7	0	6	1	2	1	2	1	2	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:124132352G>C	ENST00000240874.3	+	14	2533	c.2376G>C	c.(2374-2376)ttG>ttC	p.L792F	KALRN_ENST00000460856.1_Missense_Mutation_p.L792F|KALRN_ENST00000360013.3_Missense_Mutation_p.L792F	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	792					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGAAGACTTGCTTCGGCAGA	0.537																																																	0													88	73	78					3																	124132352		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2376G>C	3.37:g.124132352G>C	ENSP00000240874:p.Leu792Phe		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.L792F	ENST00000240874.3	37	c.2376	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.507269|4.507269	0.85282|0.85282	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013	.|T;T;T	.|0.55052	.|0.54;0.54;0.54	5.65|5.65	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	T|T	0.68091|0.68091	0.2963|0.2963	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0	.|D;D;D;D	.|0.83275	.|0.991;0.98;0.994;0.996	T|T	0.69239|0.69239	-0.5197|-0.5197	5|10	.|0.46703	.|T	.|0.11	.|.	16.1299|16.1299	0.81422|0.81422	0.0:0.0:0.8655:0.1345|0.0:0.0:0.8655:0.1345	.|.	.|792;138;792;792	.|C9IZQ6;F2Z3Q6;O60229;O60229-2	.|.;.;KALRN_HUMAN;.	S|F	770|792	.|ENSP00000418611:L792F;ENSP00000240874:L792F;ENSP00000353109:L792F	.|ENSP00000240874:L792F	C|L	+|+	2|3	0|2	KALRN|KALRN	125615042|125615042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.180000|3.180000	0.50895|0.50895	1.606000|1.606000	0.50161|0.50161	-0.182000|-0.182000	0.12963|0.12963	TGC|TTG	KALRN	-	NULL	ENSG00000160145		0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0	31	0	G	NM_003947		124132352	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	C	C	124132352	G	C	124132352	3	2	17	1	0	0	0	0	1	0	0	0	8002	1310	46	5	2430	5	KALRN	3	124132352	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	34687291	124132352	73890078	59	4845											
PLXND1	23129	genome.wustl.edu	37	chr3	129324787	129324787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatctcgggcgtgttctcGaagcggtggtcctccaggct	4	10	15	12	5	2	0	0	0	2	0	6	2	4	0	2	4	1	2	2	4	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:129324787G>T	ENST00000324093.4	-	1	874	c.696C>A	c.(694-696)ttC>ttA	p.F232L	PLXND1_ENST00000393239.1_Missense_Mutation_p.F232L	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	232	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCGTGTTCTCGAAGCGGTGGT	0.692																																					Ovarian(97;366 1484 3738 22084 39045)												0													36	36	36					3																	129324787		2202	4299	6501	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.696C>A	3.37:g.129324787G>T	ENSP00000317128:p.Phe232Leu		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.F232L	ENST00000324093.4	37	c.696	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	g	16.46	3.130685	0.56828	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.33438	1.47;1.41	3.52	0.575	0.17374	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (3);	1.825470	0.03253	U	0.182122	T	0.48370	0.1496	M	0.63428	1.95	0.43588	D	0.995938	D	0.76494	0.999	D	0.74674	0.984	T	0.59495	-0.7444	10	0.09338	T	0.73	.	8.3462	0.32275	0.2812:0.0:0.7188:0.0	.	232	Q9Y4D7	PLXD1_HUMAN	L	232	ENSP00000317128:F232L;ENSP00000376931:F232L	ENSP00000317128:F232L	F	-	3	2	PLXND1	130807477	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	1.781000	0.38644	0.215000	0.20761	-0.703000	0.03666	TTC	PLXND1	-	superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000004399		0.692	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4		0	22	0	G	NM_015103		129324787	-1			no_errors	ENST00000324093	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	129324787	G	T	129324787	3	4	17	1	0	0	0	0	1	0	0	0	12166	1049	37	2	5225	2	PLXND1	3	129324787	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	5192435	129324787	68697643	60	4846											
ACPP	55	genome.wustl.edu	37	chr3	132086565	132086565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttctaaaggtcatctttGctgttgccttttgcctgata	7	17	8	9	0	3	1	1	1	2	0	3	1	3	1	2	1	3	3	2	1	3	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:132086565G>A	ENST00000351273.7	+	11	1206	c.1156G>A	c.(1156-1158)Gct>Act	p.A386T		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GGTCATCTTTGCTGTTGCCTT	0.408																																																	0													427	359	380					3																	132086565		1568	3582	5150	SO:0001583	missense	0				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000351273.7:c.1156G>A	3.37:g.132086565G>A	ENSP00000323036:p.Ala386Thr		D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.A386T	ENST00000351273.7	37	c.1156	CCDS46916.1	3	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717081	0.48622	.	.	ENSG00000014257	ENST00000351273	T	0.07567	3.18	4.96	4.96	0.65561	.	0.327243	0.26217	N	0.025650	T	0.21881	0.0527	.	.	.	0.22754	N	0.998775	D	0.67145	0.996	P	0.62813	0.907	T	0.02042	-1.1224	9	0.40728	T	0.16	.	14.4466	0.67356	0.0:0.0:1.0:0.0	.	386	P15309-2	.	T	386	ENSP00000323036:A386T	ENSP00000323036:A386T	A	+	1	0	ACPP	133569255	0.902000	0.30710	0.081000	0.20488	0.025000	0.11179	4.145000	0.58065	2.699000	0.92147	0.655000	0.94253	GCT	ACPP	-	NULL	ENSG00000014257		0.408	ACPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPP	HGNC	protein_coding	OTTHUMT00000356701.1		0	44	0	G	NM_001099		132086565	1			no_errors	ENST00000351273	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.451	A	A	132086565	G	A	132086565	3	1	17	1	0	0	0	0	1	0	0	0	167	1319	46	3	1221	3	ACPP	3	132086565	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2761778	132086565	65935865	61	4847											
SLCO2A1	6578	genome.wustl.edu	37	chr3	133664007	133664007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atggcaaggggagaggtactCgattccattgtctccacaga	11	9	12	9	1	1	2	0	0	1	2	4	4	2	2	2	4	1	2	2	4	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:133664007C>G	ENST00000310926.4	-	10	1666	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.E389Q	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	465	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GAGAGGTACTCGATTCCATTG	0.567																																																	0													159	160	160					3																	133664007		2203	4300	6503	SO:0001583	missense	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1393G>C	3.37:g.133664007C>G	ENSP00000311291:p.Glu465Gln		Q86V98|Q8IUN2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.E465Q	ENST00000310926.4	37	c.1393	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577477	0.65878	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.04406	3.63;3.63	5.45	5.45	0.79879	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.050543	0.85682	D	0.000000	T	0.18964	0.0455	L	0.52905	1.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.996	T	0.00192	-1.1935	10	0.41790	T	0.15	.	19.268	0.93997	0.0:1.0:0.0:0.0	.	284;389;465	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	Q	465;389	ENSP00000311291:E465Q;ENSP00000418893:E389Q	ENSP00000311291:E465Q	E	-	1	0	SLCO2A1	135146697	1.000000	0.71417	0.950000	0.38849	0.659000	0.38960	7.078000	0.76821	2.559000	0.86315	0.491000	0.48974	GAG	SLCO2A1	-	pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.567	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	-	0	41	0	C	NM_005630		133664007	-1	tier1	-	no_errors	ENST00000310926	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	G	G	133664007	C	G	133664007	3	3	17	1	0	0	0	0	1	0	0	0	14771	893	31	5	558	5	SLCO2A1	3	133664007	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1577442	133664007	64358423	62	4848											
MRAS	22808	genome.wustl.edu	37	chr3	138121105	138121105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaactgcaatgtgtgatCttgtgacaggcctgaggccc	10	9	11	11	0	1	3	0	3	1	0	1	3	1	3	2	2	2	1	2	2	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:138121105C>T	ENST00000289104.4	+	6	1268	c.621C>T	c.(619-621)atC>atT	p.I207I	MRAS_ENST00000474559.1_Silent_p.I207I|MRAS_ENST00000423968.2_Silent_p.I207I|MRAS_ENST00000464896.1_Silent_p.I131I	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	207					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						AATGTGTGATCTTGTGACAGG	0.557																																																	0													57	61	60					3																	138121105		2203	4300	6503	SO:0001819	synonymous_variant	0			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.621C>T	3.37:g.138121105C>T			B4DIK0|Q86WX8	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I207	ENST00000289104.4	37	c.621	CCDS3100.1	3																																																																																			MRAS	-	smart_Ran_GTPase	ENSG00000158186		0.557	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	-	0	41	0	C			138121105	1	tier1	-	no_errors	ENST00000289104	ensembl	human	known	74_37	silent	20.59	54	14	SNP	0.741	T	T	138121105	C	T	138121105	2	4	17	1	0	0	0	0	0	0	0	1	9793	903	32	3		3	MRAS	3	138121105	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	4457098	138121105	59901325	63	4849											
ATR	545	genome.wustl.edu	37	chr3	142224118	142224118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgactccggccactccatCaggttcatgcatagcagcat	10	9	8	14	1	2	1	2	1	0	0	4	1	4	1	3	2	3	4	3	2	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:142224118C>G	ENST00000350721.4	-	29	5180	c.5059G>C	c.(5059-5061)Gat>Cat	p.D1687H	ATR_ENST00000383101.3_Missense_Mutation_p.D1623H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1687	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D1687H(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCACTCCATCAGGTTCATGC	0.388								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	lung(1)											180	181	181					3																	142224118		2203	4300	6503	SO:0001583	missense	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5059G>C	3.37:g.142224118C>G	ENSP00000343741:p.Asp1687His		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.D1687H	ENST00000350721.4	37	c.5059	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813677	0.90790	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.50813	0.73;0.73	5.54	5.54	0.83059	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.76241	0.3960	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81221	-0.1031	10	0.87932	D	0	-20.5386	19.4874	0.95035	0.0:1.0:0.0:0.0	.	1687	Q13535	ATR_HUMAN	H	1687;1623	ENSP00000343741:D1687H;ENSP00000372581:D1623H	ENSP00000343741:D1687H	D	-	1	0	ATR	143706808	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.586000	0.87340	0.655000	0.94253	GAT	ATR	-	pfscan_PIK_FAT	ENSG00000175054		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	-	0	30	0	C	NM_001184		142224118	-1	tier1	-	no_errors	ENST00000350721	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	G	G	142224118	C	G	142224118	3	3	17	1	0	0	0	0	1	0	0	0	1205	826	29	5	2951	5	ATR	3	142224118	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	4103013	142224118	55798312	64	4850											
C3orf55	152078	genome.wustl.edu	37	chr3	157289013	157289013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagagtggatgaagcagtctCtctgggttttctggattgct	8	14	13	6	0	3	2	0	1	3	1	4	4	3	4	0	3	2	3	0	3	2	3	rs192031896		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:157289013C>G	ENST00000449199.2	+	3	272	c.131C>G	c.(130-132)tCt>tGt	p.S44C	C3orf55_ENST00000426338.2_Missense_Mutation_p.S44C|C3orf55_ENST00000461040.1_Intron|C3orf55_ENST00000459838.1_Missense_Mutation_p.S44C|C3orf55_ENST00000312275.5_Missense_Mutation_p.S44C	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		44										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			GAAGCAGTCTCTCTGGGTTTT	0.428																																																	0													119	117	118					3																	157289013		1980	4170	6150	SO:0001583	missense	0																														ENST00000449199.2:c.131C>G	3.37:g.157289013C>G	ENSP00000413228:p.Ser44Cys		C9JP04|C9JXB5|Q8N6Q6	Missense_Mutation	SNP	NULL	p.S44C	ENST00000449199.2	37	c.131	CCDS46943.1	3	.	.	.	.	.	.	.	.	.	.	c	21.8	4.195240	0.78902	.	.	ENSG00000174899	ENST00000312275;ENST00000459838;ENST00000449199;ENST00000426338	T;T;T;T	0.72505	-0.66;-0.13;-0.54;0.15	3.9	3.9	0.45041	.	.	.	.	.	D	0.86682	0.5991	M	0.90595	3.13	0.09310	N	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.982	T	0.79009	-0.1978	9	0.87932	D	0	.	15.5542	0.76180	0.0:1.0:0.0:0.0	.	44;44;44	C9JXB5;A1A4F0;A1A4F0-2	.;CC055_HUMAN;.	C	44	ENSP00000312323:S44C;ENSP00000420317:S44C;ENSP00000413228:S44C;ENSP00000387918:S44C	ENSP00000312323:S44C	S	+	2	0	C3orf55	158771707	0.943000	0.32029	0.012000	0.15200	0.708000	0.40852	2.361000	0.44160	2.126000	0.65437	0.655000	0.94253	TCT	C3orf55	-	NULL	ENSG00000174899		0.428	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf55	HGNC	protein_coding	OTTHUMT00000352018.1	-	0	102	0	C			157289013	1	tier1	-	no_errors	ENST00000449199	ensembl	human	known	74_37	missense	15.44	115	21	SNP	0.173	G	G	157289013	C	G	157289013	3	3	17	1	0	0	0	0	1	0	0	0	2241	913	32	5	137	5	C3orf55	3	157289013	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	15064895	157289013	40733417	65	4851											
CCDC50	152137	genome.wustl.edu	37	chr3	191087747	191087747	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaaggagttacaggaaGagaaaaagagaaagaaacac	25	2	11	3	0	0	4	0	0	0	4	0	8	0	6	0	2	2	1	0	2	9	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr3:191087747G>C	ENST00000392455.3	+	5	968	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	CCDC50_ENST00000392456.3_Missense_Mutation_p.E124Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	124						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GTTACAGGAAGAGAAAAAGAG	0.398																																																	0													123	129	127					3																	191087747		2203	4300	6503	SO:0001583	missense	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.370G>C	3.37:g.191087747G>C	ENSP00000376249:p.Glu124Gln		Q86VH7	Missense_Mutation	SNP	NULL	p.E124Q	ENST00000392455.3	37	c.370	CCDS33913.1	3	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856242	0.51376	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.45276	0.9;0.9	5.15	5.15	0.70609	.	0.122077	0.53938	D	0.000060	T	0.64080	0.2566	M	0.74881	2.28	0.36572	D	0.873062	D;D	0.89917	0.999;1.0	D;D	0.85130	0.951;0.997	T	0.72827	-0.4175	10	0.62326	D	0.03	.	14.1348	0.65279	0.0:0.0:1.0:0.0	.	124;124	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	Q	124	ENSP00000376249:E124Q;ENSP00000376250:E124Q	ENSP00000376249:E124Q	E	+	1	0	CCDC50	192570441	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	5.307000	0.65762	2.409000	0.81822	0.650000	0.86243	GAG	CCDC50	-	NULL	ENSG00000152492		0.398	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1	-	0	57	0	G	NM_174908		191087747	1	tier1	-	no_errors	ENST00000392456	ensembl	human	known	74_37	missense	5.88	96	6	SNP	1.000	C	C	191087747	G	C	191087747	3	2	17	1	0	0	0	0	1	0	0	0	2827	943	33	5	388	5	CCDC50	3	191087747	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	33798734	191087747	6934683	66	4852											
TBC1D19	55296	genome.wustl.edu	37	chr4	26744169	26744169	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgtttgaaactcttcttCaaacttatcttccccaactc	9	16	3	13	0	4	1	1	1	3	0	6	1	5	1	2	0	4	2	2	0	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr4:26744169C>T	ENST00000264866.4	+	18	1545	c.1267C>T	c.(1267-1269)Caa>Taa	p.Q423*	TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.Q358*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	423	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AACTCTTCTTCAAACTTATCT	0.328																																																	0													127	132	130					4																	26744169		2203	4300	6503	SO:0001587	stop_gained	0			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.1267C>T	4.37:g.26744169C>T	ENSP00000264866:p.Gln423*		B9A6M0|Q9NUX1	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q423*	ENST00000264866.4	37	c.1267	CCDS3439.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.748803	0.96882	.	.	ENSG00000109680	ENST00000264866;ENST00000511789	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.2779	20.3812	0.98933	0.0:1.0:0.0:0.0	.	.	.	.	X	423;358	.	ENSP00000264866:Q423X	Q	+	1	0	TBC1D19	26353267	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.044000	0.76578	2.821000	0.97095	0.650000	0.86243	CAA	TBC1D19	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000109680		0.328	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	-	0	53	0	C	NM_018317		26744169	1	tier1	-	no_errors	ENST00000264866	ensembl	human	known	74_37	nonsense	19.35	50	12	SNP	1.000	T	T	26744169	C	T	26744169	4	4	17	1	0	0	0	0	0	1	0	0	15654	827	29	3	1337	3	TBC1D19	4	26744169	Nonsense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		26744169	164410107	67	4853											
CXCL1	2919	genome.wustl.edu	37	chr4	74735691	74735691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagttaagaaaatcatcgAaaagatgctgaacaggtgag	18	8	10	5	1	1	4	1	2	0	2	2	5	1	4	0	1	2	2	0	1	7	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr4:74735691A>G	ENST00000395761.3	+	3	360	c.293A>G	c.(292-294)gAa>gGa	p.E98G	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	98					actin cytoskeleton organization (GO:0030036)|cell chemotaxis (GO:0060326)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|positive regulation of catalytic activity (GO:0043085)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|enzyme activator activity (GO:0008047)|receptor binding (GO:0005102)			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAAATCATCGAAAAGATGCTG	0.483																																																	0													62	64	63					4																	74735691		2197	4300	6497	SO:0001583	missense	0			J03561	CCDS47074.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163739		"Endogenous ligands"	4602	protein-coding gene	gene with protein product		155730	"GRO1 oncogene (melanoma growth stimulating activity, alpha)", "fibroblast secretory protein"	MGSA, GRO1, FSP		2217207	Standard	NM_001511		Approved	SCYB1, GROa, MGSA-a, NAP-3	uc003hhh.3	P09341		ENST00000395761.3:c.293A>G	4.37:g.74735691A>G	ENSP00000379110:p.Glu98Gly		Q9UCR7	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.E98G	ENST00000395761.3	37	c.293	CCDS47074.1	4	.	.	.	.	.	.	.	.	.	.	A	12.23	1.875333	0.33162	.	.	ENSG00000163739	ENST00000395761	T	0.05199	3.48	5.48	4.29	0.51040	Chemokine interleukin-8-like domain (3);	0.978397	0.08416	N	0.949092	T	0.10895	0.0266	M	0.66560	2.04	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.25467	-1.0131	10	0.56958	D	0.05	.	9.6002	0.39598	0.8237:0.1763:0.0:0.0	.	98	P09341	GROA_HUMAN	G	98	ENSP00000379110:E98G	ENSP00000379110:E98G	E	+	2	0	CXCL1	74954555	0.004000	0.15560	0.001000	0.08648	0.004000	0.04260	2.040000	0.41203	0.906000	0.36621	-0.313000	0.08912	GAA	CXCL1	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000163739		0.483	CXCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL1	HGNC	protein_coding	OTTHUMT00000362734.1		0	28	0	A			74735691	1			no_errors	ENST00000395761	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.003	G	G	74735691	A	G	74735691	3	3	17	1	0	0	0	0	1	0	0	0	4086	246	9	4	303	4	CXCL1	4	74735691	Missense_Mutation	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09	47991522	74735691	116418585	68	4854											
UNC5C	8633	genome.wustl.edu	37	chr4	96222865	96222865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcttccacttgctggcGcgaaatctcaatgctcactt	8	13	8	12	2	3	0	2	0	2	0	5	2	4	0	1	1	2	3	1	1	2	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr4:96222865G>A	ENST00000453304.1	-	3	730	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	UNC5C_ENST00000506749.1_Missense_Mutation_p.R128C|UNC5C_ENST00000504962.1_Missense_Mutation_p.R128C	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	128	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACTTGCTGGCGCGAAATCTCA	0.468																																																	0													72	59	64					4																	96222865		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.382C>T	4.37:g.96222865G>A	ENSP00000406022:p.Arg128Cys		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.R128C	ENST00000453304.1	37	c.382	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458370	0.84317	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749;ENST00000504962	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.72	4.86	0.63082	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.90369	3.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.982	T	0.70048	-0.4979	10	0.87932	D	0	.	15.9424	0.79768	0.0:0.0:0.864:0.136	.	128;128;128	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	C	128;87;128;128;128	ENSP00000406022:R128C;ENSP00000426924:R128C;ENSP00000426153:R128C;ENSP00000425117:R128C	ENSP00000328673:R87C	R	-	1	0	UNC5C	96441888	1.000000	0.71417	0.959000	0.39883	0.988000	0.76386	5.334000	0.65923	1.374000	0.46228	0.650000	0.86243	CGC	UNC5C	-	NULL	ENSG00000182168		0.468	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0	35	0	G	NM_003728		96222865	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.997	A	A	96222865	G	A	96222865	3	1	17	1	0	0	0	0	1	0	0	0	17042	1087	38	1	2469	1	UNC5C	4	96222865	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	21487174	96222865	94931411	69	4855											
AIMP1	9255	genome.wustl.edu	37	chr4	107246215	107246215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactggagcagaagggtgcaGaggcagatcaaatcattgaa	15	6	14	6	0	2	4	2	1	0	3	2	6	2	5	0	3	2	3	0	3	3	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr4:107246215G>C	ENST00000442366.1	+	2	101	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	AIMP1_ENST00000358008.3_Missense_Mutation_p.E17Q|AIMP1_ENST00000394701.4_Missense_Mutation_p.E41Q	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	17	Required for fibroblast proliferation.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						GAAGGGTGCAGAGGCAGATCA	0.338																																																	0													61	61	61					4																	107246215		2203	4300	6503	SO:0001583	missense	0			U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"EMAP II", "ARS-interacting multifunctional protein 1"	603605	"small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.49G>C	4.37:g.107246215G>C	ENSP00000405248:p.Glu17Gln		B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Missense_Mutation	SNP	pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_t-SNARE,pfscan_tRNA-bd_dom	p.E41Q	ENST00000442366.1	37	c.121	CCDS3674.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044654	0.75732	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	T;T;T;T	0.25579	1.79;1.9;1.9;1.89	5.06	5.06	0.68205	.	0.097964	0.64402	D	0.000002	T	0.46852	0.1414	L	0.59436	1.845	0.80722	D	1	D;P	0.69078	0.997;0.584	D;B	0.75484	0.986;0.113	T	0.22730	-1.0208	10	0.20046	T	0.44	-47.7637	18.4123	0.90555	0.0:0.0:1.0:0.0	.	17;17	B4DNK3;Q12904	.;AIMP1_HUMAN	Q	17;17;17;17;41	ENSP00000423681:E17Q;ENSP00000405248:E17Q;ENSP00000350699:E17Q;ENSP00000378191:E41Q	ENSP00000350699:E17Q	E	+	1	0	AIMP1	107465664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.020000	0.93667	2.373000	0.80994	0.591000	0.81541	GAG	AIMP1	-	superfamily_t-SNARE	ENSG00000164022		0.338	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP1	HGNC	protein_coding	OTTHUMT00000253961.1	-	0	30	0	G	NM_004757		107246215	1	tier1	-	no_errors	ENST00000394701	ensembl	human	known	74_37	missense	19.35	24	6	SNP	1.000	C	C	107246215	G	C	107246215	3	2	17	1	0	0	0	0	1	0	0	0	433	943	33	5	127	5	AIMP1	4	107246215	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11023350	107246215	83908061	70	4856											
PDLIM3	27295	genome.wustl.edu	37	chr4	186456520	186456520	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatgaccaaaggctggttGaagtctatgccccctgagag	10	9	13	9	0	1	4	0	4	1	1	1	5	1	4	3	2	1	2	3	2	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr4:186456520G>A	ENST00000284770.5	-	1	142	c.69C>T	c.(67-69)ttC>ttT	p.F23F	PDLIM3_ENST00000284771.6_Silent_p.F23F|PDLIM3_ENST00000284767.5_Silent_p.F23F	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	23	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		AAGGCTGGTTGAAGTCTATGC	0.672																																																	0													46	49	48					4																	186456520		2203	4300	6503	SO:0001819	synonymous_variant	0			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.69C>T	4.37:g.186456520G>A			B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.F23	ENST00000284770.5	37	c.69	CCDS3844.1	4																																																																																			PDLIM3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000154553		0.672	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	-	0	46	0	G	NM_014476		186456520	-1	tier1	-	no_errors	ENST00000284770	ensembl	human	known	74_37	silent	12.28	50	7	SNP	0.999	A	A	186456520	G	A	186456520	2	1	17	1	0	0	0	0	0	0	0	1	11720	1281	45	3		3	PDLIM3	4	186456520	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	79210305	186456520	4697756	71	4857											
BRD9	65980	genome.wustl.edu	37	chr5	876276	876276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctggtccaggaggtcGtccaccactttcttgctgta	6	13	11	11	1	2	1	0	1	2	0	5	2	4	2	3	3	1	2	3	3	1	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:876276G>T	ENST00000467963.1	-	12	1489	c.1323C>A	c.(1321-1323)gaC>gaA	p.D441E	BRD9_ENST00000388890.4_Missense_Mutation_p.D325E|BRD9_ENST00000483173.1_Missense_Mutation_p.D388E|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000323510.4_Missense_Mutation_p.D345E	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	441					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.D441D(1)|p.D345D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CCAGGAGGTCGTCCACCACTT	0.627																																																	2	Substitution - coding silent(2)	endometrium(2)											112	89	97					5																	876276		2203	4300	6503	SO:0001583	missense	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1323C>A	5.37:g.876276G>T	ENSP00000419765:p.Asp441Glu		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.D441E	ENST00000467963.1	37	c.1323	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	g	15.04	2.715230	0.48622	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.0	-9.94	0.00449	.	0.047232	0.85682	D	0.000000	T	0.61578	0.2358	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.996	D;D;D;D;P	0.79784	0.983;0.969;0.993;0.93;0.883	D	0.83710	0.0187	10	0.46703	T	0.11	.	16.3288	0.82997	0.402:0.0:0.598:0.0	.	388;441;119;345;325	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	E	345;325;119;388;441	ENSP00000323557:D345E;ENSP00000373542:D325E;ENSP00000419845:D388E;ENSP00000419765:D441E	ENSP00000323557:D345E	D	-	3	2	BRD9	929276	0.207000	0.23482	0.362000	0.25862	0.372000	0.29890	-0.519000	0.06260	-2.694000	0.00402	-1.936000	0.00505	GAC	BRD9	-	pfam_DUF3512	ENSG00000028310		0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1		0	23	0	G	NM_023924		876276	-1			no_errors	ENST00000467963	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.804	T	T	876276	G	T	876276	3	4	17	1	0	0	0	0	1	0	0	0	1511	1136	40	2	490	2	BRD9	5	876276	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		876276	180038984	72	4858											
CDH18	1016	genome.wustl.edu	37	chr5	19473394	19473394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctaactttttaaactcggGtccccagtctccaaggtagt	10	12	8	11	1	1	0	0	0	1	0	4	0	2	0	3	2	3	2	3	2	5	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:19473394G>T	ENST00000507958.1	-	15	3304	c.2314C>A	c.(2314-2316)Ccc>Acc	p.P772T	CDH18_ENST00000382275.1_Missense_Mutation_p.P772T|CDH18_ENST00000274170.4_Missense_Mutation_p.P772T|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	772					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTAAACTCGGGTCCCCAGTCT	0.458																																																	0													83	87	86					5																	19473394		2203	4300	6503	SO:0001583	missense	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2314C>A	5.37:g.19473394G>T	ENSP00000425093:p.Pro772Thr		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P772T	ENST00000507958.1	37	c.2314	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353609	0.82243	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.83837	-1.77;-1.77;-1.77	5.21	5.21	0.72293	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	M	0.89214	3.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.93288	0.6666	9	.	.	.	.	17.6979	0.88286	0.0:0.0:1.0:0.0	.	772	Q13634	CAD18_HUMAN	T	772	ENSP00000371710:P772T;ENSP00000425093:P772T;ENSP00000274170:P772T	.	P	-	1	0	CDH18	19509151	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	9.807000	0.99171	2.600000	0.87896	0.655000	0.94253	CCC	CDH18	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000145526		0.458	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0	50	0	G	NM_004934		19473394	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	26.58	58	21	SNP	1.000	T	T	19473394	G	T	19473394	3	4	17	1	0	0	0	0	1	0	0	0	3110	1261	44	3	62	3	CDH18	5	19473394	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	18597118	19473394	161441866	73	4859											
NIPBL	25836	genome.wustl.edu	37	chr5	36975895	36975895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggctcaagaccacctttaAtcctacaatctcagtctcta	12	12	4	13	0	3	1	2	0	2	1	6	1	4	1	3	1	1	1	3	1	6	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:36975895A>G	ENST00000282516.8	+	9	1385	c.886A>G	c.(886-888)Atc>Gtc	p.I296V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I296V|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	296					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCACCTTTAATCCTACAATC	0.348																																																	0													109	112	111					5																	36975895		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.886A>G	5.37:g.36975895A>G	ENSP00000282516:p.Ile296Val		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I296V	ENST00000282516.8	37	c.886	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683352	0.47991	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.96168	-3.91;-3.93	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.94876	0.8344	N	0.24115	0.695	0.43824	D	0.996392	P;P	0.46327	0.803;0.876	P;P	0.61800	0.785;0.894	D	0.94055	0.7321	10	0.30078	T	0.28	.	14.9485	0.71050	1.0:0.0:0.0:0.0	.	296;296	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	V	296	ENSP00000282516:I296V;ENSP00000406266:I296V	ENSP00000282516:I296V	I	+	1	0	NIPBL	37011652	1.000000	0.71417	0.999000	0.59377	0.795000	0.44927	8.912000	0.92726	1.935000	0.56089	0.383000	0.25322	ATC	NIPBL	-	NULL	ENSG00000164190		0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	28	0	A	NM_015384		36975895	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	G	G	36975895	A	G	36975895	3	3	17	1	0	0	0	0	1	0	0	0	10467	101	4	4	916	4	NIPBL	5	36975895	Missense_Mutation	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09	17502501	36975895	143939365	74	4860											
C9	735	genome.wustl.edu	37	chr5	39341298	39341298	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctaccactctgtctctGcaggggggacggggctcact	5	11	12	13	1	5	0	1	0	4	0	6	1	5	1	1	5	2	2	1	5	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:39341298G>T	ENST00000263408.4	-	4	521	c.426C>A	c.(424-426)tgC>tgA	p.C142*	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	142	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTCTGTCTCTGCAGGGGGGAC	0.463																																																	0													112	111	111					5																	39341298		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.426C>A	5.37:g.39341298G>T	ENSP00000263408:p.Cys142*			Nonsense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.C142*	ENST00000263408.4	37	c.426	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396638	0.42512	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.32	3.55	0.40652	.	0.097701	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.3615	7.0957	0.25309	0.3401:0.0:0.6599:0.0	.	.	.	.	X	142	.	ENSP00000263408:C142X	C	-	3	2	C9	39377055	1.000000	0.71417	0.940000	0.37924	0.177000	0.22998	2.987000	0.49378	0.638000	0.30545	-0.253000	0.11424	TGC	C9	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000113600		0.463	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3		0	17	0	G			39341298	-1			no_errors	ENST00000263408	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	T	T	39341298	G	T	39341298	4	4	17	1	0	0	0	0	0	1	0	0	2450	1311	46	3	1285	3	C9	5	39341298	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2365403	39341298	141573962	75	4861											
OTP	23440	genome.wustl.edu	37	chr5	76932724	76932724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggggtagtgagtcttggcGaagctcctctccaactcgtt	6	12	12	11	3	2	1	0	1	2	0	6	2	3	1	2	3	2	3	2	3	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:76932724G>A	ENST00000306422.3	-	2	1507	c.369C>T	c.(367-369)ttC>ttT	p.F123F	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	123					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GAGTCTTGGCGAAGCTCCTCT	0.637																																																	0													114	112	112					5																	76932724		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"Homeoboxes / PRD class"	8518	protein-coding gene	gene with protein product		604529	"orthopedia homolog (Drosophila)"			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.369C>T	5.37:g.76932724G>A				Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeobox_dom	p.F123	ENST00000306422.3	37	c.369	CCDS4039.1	5																																																																																			OTP	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000171540		0.637	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTP	HGNC	protein_coding	OTTHUMT00000220016.2	-	0	98	0	G			76932724	-1	tier1	-	no_errors	ENST00000306422	ensembl	human	known	74_37	silent	6.48	101	7	SNP	1.000	A	A	76932724	G	A	76932724	2	1	17	1	0	0	0	0	0	0	0	1	11349	1049	37	1		1	OTP	5	76932724	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	37591426	76932724	103982536	76	4862											
MSH3	4437	genome.wustl.edu	37	chr5	79950579	79950579	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aagcctgcgtcgggcggcctCgctgcctccagctcagcccc	4	6	12	19	4	1	0	1	0	0	0	4	0	2	0	6	2	5	2	6	2	1	0	rs564921007	byFrequency	TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:79950579C>G	ENST00000265081.6	+	1	113	c.33C>G	c.(31-33)ctC>ctG	p.L11L	DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	11					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CGGGCGGCCTCGCTGCCTCCA	0.697								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													23	22	22					5																	79950579		2196	4293	6489	SO:0001819	synonymous_variant	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.33C>G	5.37:g.79950579C>G			A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.L11	ENST00000265081.6	37	c.33	CCDS34195.1	5																																																																																			MSH3	-	NULL	ENSG00000113318		0.697	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1		0	30	0	C	NM_002439		79950579	1			no_errors	ENST00000265081	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.000	G	G	79950579	C	G	79950579	2	3	17	1	0	0	0	0	0	0	0	1	9909	871	31	5		5	MSH3	5	79950579	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3017855	79950579	100964681	77	4863											
PPIP5K2	23262	genome.wustl.edu	37	chr5	102488444	102488444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaattgtaccaactacatCtggaactatgtaagtctgaa	14	11	6	10	0	2	1	0	1	2	0	2	2	2	2	2	1	4	2	2	1	8	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:102488444C>A	ENST00000358359.3	+	10	1630	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.S374Y|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S374Y|PPIP5K2_ENST00000513500.1_3'UTR	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	374	Polyphosphoinositide-binding domain.				inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCAACTACATCTGGAACTATG	0.323																																																	0													80	81	81					5																	102488444		2203	4295	6498	SO:0001583	missense	0			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"histidine acid phosphatase domain containing 1"	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.1121C>A	5.37:g.102488444C>A	ENSP00000351126:p.Ser374Tyr		A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.S374Y	ENST00000358359.3	37	c.1121		5	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709018	0.68615	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T	0.16073	2.37;2.37;2.37	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	L	0.35723	1.085	0.80722	D	1	B;B;B	0.31174	0.01;0.311;0.207	B;B;B	0.40565	0.02;0.333;0.179	T	0.01436	-1.1355	10	0.02654	T	1	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	296;374;374	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	Y	374;296;374;374;374	ENSP00000313070:S374Y;ENSP00000351126:S374Y;ENSP00000416016:S374Y	ENSP00000313070:S374Y	S	+	2	0	PPIP5K2	102516343	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.970000	0.70431	2.802000	0.96397	0.655000	0.94253	TCT	PPIP5K2	-	NULL	ENSG00000145725		0.323	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	-	0	51	0	C	NM_015216		102488444	1	tier1	-	no_errors	ENST00000358359	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	A	A	102488444	C	A	102488444	3	1	17	1	0	0	0	0	1	0	0	0	12375	913	32	3	1155	3	PPIP5K2	5	102488444	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	22537865	102488444	78426816	78	4864											
TMEM173	340061	genome.wustl.edu	37	chr5	138860385	138860385	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcccacctggcaggatCagccgcagatatccgatgta	10	7	12	12	2	1	1	1	0	0	1	2	4	2	2	4	3	1	3	4	3	2	2	rs200049390	byFrequency	TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:138860385C>A	ENST00000330794.4	-	5	843	c.510G>T	c.(508-510)ctG>ctT	p.L170L	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	170	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGGCAGGATCAGCCGCAGAT	0.517																																																	0													57	52	53					5																	138860385		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.510G>T	5.37:g.138860385C>A			A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Silent	SNP	NULL	p.L170	ENST00000330794.4	37	c.510	CCDS4215.1	5																																																																																			TMEM173	-	NULL	ENSG00000184584		0.517	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM173	HGNC	protein_coding	OTTHUMT00000251338.1		0	31	0	C	NM_198282		138860385	-1			no_errors	ENST00000330794	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.999	A	A	138860385	C	A	138860385	2	1	17	1	0	0	0	0	0	0	0	1	16136	813	29	3		3	TMEM173	5	138860385	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	36371941	138860385	42054875	79	4865											
PCDHA2	56146	genome.wustl.edu	37	chr5	140174599	140174599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcctggacacggctgctctCgcttctgctcctcgcagcct	3	10	11	17	3	2	0	0	0	2	0	5	1	3	1	3	3	3	5	3	3	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:140174599C>G	ENST00000526136.1	+	1	50	c.50C>G	c.(49-51)tCg>tGg	p.S17W	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.S17W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.S17W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	17					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTGCTCTCGCTTCTGCTC	0.587																																																	0													34	41	38					5																	140174599		2203	4300	6503	SO:0001583	missense	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.50C>G	5.37:g.140174599C>G	ENSP00000431748:p.Ser17Trp		O75287|Q9BTV3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S17W	ENST00000526136.1	37	c.50	CCDS54914.1	5	.	.	.	.	.	.	.	.	.	.	c	1.229	-0.624670	0.03636	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52526	0.73;0.66;0.7	4.01	-2.51	0.06365	.	1.179440	0.06668	U	0.765657	T	0.33089	0.0851	L	0.34521	1.04	0.31980	N	0.606002	B;B;B	0.12013	0.005;0.003;0.005	B;B;B	0.18561	0.001;0.01;0.022	T	0.34576	-0.9823	10	0.37606	T	0.19	.	5.7536	0.18160	0.0:0.2897:0.2483:0.462	.	17;17;17	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	17	ENSP00000430584:S17W;ENSP00000367372:S17W;ENSP00000431748:S17W	ENSP00000367372:S17W	S	+	2	0	PCDHA2	140154783	0.000000	0.05858	0.020000	0.16555	0.079000	0.17450	-2.127000	0.01315	-0.425000	0.07371	-1.205000	0.01647	TCG	PCDHA2	-	NULL	ENSG00000204969		0.587	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0	39	0	C	NM_018905		140174599	1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	missense	12.90	54	8	SNP	0.968	G	G	140174599	C	G	140174599	3	3	17	1	0	0	0	0	1	0	0	0	11563	893	31	5	52	5	PCDHA2	5	140174599	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1314214	140174599	40740661	80	4866											
PCDHB1	29930	genome.wustl.edu	37	chr5	140431453	140431453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacaatgccccagtttTcctaaacaaggagccgcttt	12	10	7	12	1	0	1	0	1	0	0	1	2	1	2	4	1	3	2	4	1	5	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:140431453T>C	ENST00000306549.3	+	1	475	c.398T>C	c.(397-399)tTc>tCc	p.F133S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	133	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCCAGTTTTCCTAAACAAG	0.537																																																	0													36	39	38					5																	140431453		2203	4300	6503	SO:0001583	missense	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.398T>C	5.37:g.140431453T>C	ENSP00000307234:p.Phe133Ser		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F133S	ENST00000306549.3	37	c.398	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908489	0.72868	.	.	ENSG00000171815	ENST00000306549	T	0.32023	1.47	5.81	5.81	0.92471	Cadherin (2);Cadherin-like (1);	0.000000	0.49305	D	0.000143	T	0.76162	0.3949	H	0.99777	4.77	0.53688	D	0.999972	D	0.89917	1.0	D	0.87578	0.998	D	0.87891	0.2684	10	0.87932	D	0	.	16.162	0.81727	0.0:0.0:0.0:1.0	.	133	Q9Y5F3	PCDB1_HUMAN	S	133	ENSP00000307234:F133S	ENSP00000307234:F133S	F	+	2	0	PCDHB1	140411637	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.907000	0.87430	2.224000	0.72417	0.533000	0.62120	TTC	PCDHB1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000171815		0.537	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	-	0	32	0	T	NM_013340		140431453	1	tier1	-	no_errors	ENST00000306549	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.998	C	C	140431453	T	C	140431453	3	2	17	1	0	0	0	0	1	0	0	0	11573	1783	62	4	400	4	PCDHB1	5	140431453	Missense_Mutation	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09	256854	140431453	40483807	81	4867											
PCDHB6	56130	genome.wustl.edu	37	chr5	140530592	140530592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctatgaagcacaagtccctGagaacaaccccctcggctct	11	8	7	15	1	2	2	0	2	2	1	4	3	3	2	3	1	3	2	3	1	5	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:140530592G>A	ENST00000231136.1	+	1	754	c.754G>A	c.(754-756)Gag>Aag	p.E252K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E116K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	252	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAAGTCCCTGAGAACAACCC	0.522																																																	0													50	53	52					5																	140530592		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.754G>A	5.37:g.140530592G>A	ENSP00000231136:p.Glu252Lys		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E252K	ENST00000231136.1	37	c.754	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739199	0.69304	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.76316	-1.01;-1.01	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93099	0.7803	H	0.98276	4.19	0.51482	D	0.999921	D	0.89917	1.0	D	0.97110	1.0	D	0.95931	0.8938	9	0.87932	D	0	.	18.3285	0.90261	0.0:0.0:1.0:0.0	.	252	Q9Y5E3	PCDB6_HUMAN	K	116;252;37	ENSP00000438466:E116K;ENSP00000231136:E252K	ENSP00000231136:E252K	E	+	1	0	PCDHB6	140510776	1.000000	0.71417	0.565000	0.28409	0.238000	0.25445	7.964000	0.87933	2.394000	0.81467	0.561000	0.74099	GAG	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113211		0.522	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0	34	0	G	NM_018939		140530592	1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	A	A	140530592	G	A	140530592	3	1	17	1	0	0	0	0	1	0	0	0	11585	1291	45	3	756	3	PCDHB6	5	140530592	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	99139	140530592	40384668	82	4868											
KCTD16	57528	genome.wustl.edu	37	chr5	143586365	143586365	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgaggtggtagagctgAatgtcgggggtcaagtttat	8	12	15	6	1	1	3	1	2	0	1	3	3	2	3	1	4	1	3	1	4	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:143586365A>C	ENST00000507359.3	+	2	1179	c.88A>C	c.(88-90)Aat>Cat	p.N30H	KCTD16_ENST00000512467.1_Missense_Mutation_p.N30H	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	30	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GGTAGAGCTGAATGTCGGGGG	0.478																																																	0													86	84	85					5																	143586365		2203	4300	6503	SO:0001583	missense	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.88A>C	5.37:g.143586365A>C	ENSP00000426548:p.Asn30His		Q9P2M9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.N30H	ENST00000507359.3	37	c.88	CCDS34260.1	5	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666606	0.67814	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	D;D	0.85556	-2.0;-2.0	5.67	5.67	0.87782	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98122	1.0426	10	0.87932	D	0	.	15.909	0.79456	1.0:0.0:0.0:0.0	.	30	Q68DU8	KCD16_HUMAN	H	30	ENSP00000424151:N30H;ENSP00000426548:N30H	ENSP00000426548:N30H	N	+	1	0	KCTD16	143566558	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.281000	0.95811	2.155000	0.67459	0.459000	0.35465	AAT	KCTD16	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000183775		0.478	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3		0	13	0	A	XM_098368		143586365	1			no_errors	ENST00000507359	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	C	C	143586365	A	C	143586365	3	2	17	1	0	0	0	0	1	0	0	0	8130	246	9	4	90	4	KCTD16	5	143586365	Missense_Mutation	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09	3055773	143586365	37328895	83	4869											
ATP10B	23120	genome.wustl.edu	37	chr5	160114974	160114974	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcaagttgtagctctgtctCcctttctctggagagagcag	7	13	11	10	0	4	1	1	0	3	1	6	3	4	2	1	1	2	4	1	1	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:160114974C>G	ENST00000327245.5	-	5	954	c.108G>C	c.(106-108)ggG>ggC	p.G36G	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	36					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTCTGTCTCCCTTTCTCTG	0.542																																																	0													152	153	152					5																	160114974		2046	4208	6254	SO:0001819	synonymous_variant	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.108G>C	5.37:g.160114974C>G			Q9H725	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G36	ENST00000327245.5	37	c.108	CCDS43394.1	5																																																																																			ATP10B	-	NULL	ENSG00000118322		0.542	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0	37	0	C	NM_025153		160114974	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	silent	6.67	70	5	SNP	0.000	G	G	160114974	C	G	160114974	2	3	17	1	0	0	0	0	0	0	0	1	1118	842	30	5		5	ATP10B	5	160114974	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	16528609	160114974	20800286	84	4870											
TRIM7	81786	genome.wustl.edu	37	chr5	180622300	180622300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaggacacggctcccacctCcaggtccagggccacccgca	9	3	11	18	2	0	0	0	0	0	0	3	2	3	1	6	4	0	2	6	4	1	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr5:180622300C>G	ENST00000274773.7	-	7	1463	c.1402G>C	c.(1402-1404)Gag>Cag	p.E468Q	CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393315.1_Missense_Mutation_p.E260Q|CTC-338M12.6_ENST00000512508.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.E260Q|TRIM7_ENST00000422067.2_Missense_Mutation_p.E260Q|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.E286Q	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	468	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCTCCCACCTCCAGGTCCAGG	0.672																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													38	25	30					5																	180622300		2194	4296	6490	SO:0001583	missense	0			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1402G>C	5.37:g.180622300C>G	ENSP00000274773:p.Glu468Gln		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.E468Q	ENST00000274773.7	37	c.1402	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029267	0.75504	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000018	D	0.82637	0.5080	M	0.90595	3.13	0.35825	D	0.824892	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89406	0.3699	10	0.66056	D	0.02	.	15.9335	0.79683	0.0:1.0:0.0:0.0	.	468;286	Q9C029;Q9C029-4	TRIM7_HUMAN;.	Q	468;260;260;286;260	ENSP00000274773:E468Q;ENSP00000376991:E260Q;ENSP00000355059:E260Q;ENSP00000376994:E286Q;ENSP00000391458:E260Q	ENSP00000274773:E468Q	E	-	1	0	TRIM7	180554906	0.106000	0.21978	0.997000	0.53966	0.857000	0.48899	1.641000	0.37197	2.349000	0.79799	0.478000	0.44815	GAG	TRIM7	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146054		0.672	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3		0	18	0	C	NM_203296		180622300	-1			no_errors	ENST00000274773	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.997	G	G	180622300	C	G	180622300	3	3	17	1	0	0	0	0	1	0	0	0	16591	864	30	5	137	5	TRIM7	5	180622300	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	20507326	180622300	292960	85	4871											
HIST1H2BK	85236	genome.wustl.edu	37	chr6	27114569	27114569	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgggagcggacttcgctggTtccggcatgttgaaggcgaa	7	8	17	9	5	0	1	0	1	0	0	2	4	1	3	1	5	1	4	1	5	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:27114569T>C	ENST00000356950.1	-	1	8	c.9A>G	c.(7-9)gaA>gaG	p.E3E	HIST1H2BK_ENST00000396891.4_Silent_p.E3E|HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTCGCTGGTTCCGGCATGT	0.562																																																	0													51	51	51					6																	27114569		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.9A>G	6.37:g.27114569T>C			A8K7P7|Q2VPI7	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E3	ENST00000356950.1	37	c.9	CCDS4621.1	6																																																																																			HIST1H2BK	-	NULL	ENSG00000197903		0.562	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1		0	56	0	T	NM_080593		27114569	-1			no_errors	ENST00000356950	ensembl	human	known	74_37	silent	7.77	95	8	SNP	0.083	C	C	27114569	T	C	27114569	2	2	17	1	0	0	0	0	0	0	0	1	7177	1722	60	4		4	HIST1H2BK	6	27114569	Silent	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09		27114569	144000498	86	4872											
ZNF311	282890	genome.wustl.edu	37	chr6	28963076	28963076	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgtgctgcctcaggactGaactatgatggaaggccatt	9	13	11	8	0	1	2	1	2	0	0	1	4	1	4	2	3	3	1	2	3	3	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:28963076G>C	ENST00000377179.3	-	7	2215	c.1703C>G	c.(1702-1704)tCa>tGa	p.S568*	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						CCTCAGGACTGAACTATGATG	0.493																																																	0													115	101	106					6																	28963076		1511	2709	4220	SO:0001587	stop_gained	0			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1703C>G	6.37:g.28963076G>C	ENSP00000366384:p.Ser568*		A2BFK5|B0S7Y4|Q92971	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S568*	ENST00000377179.3	37	c.1703	CCDS34357.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.299825	0.98750	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	.	.	.	3.79	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.0188	11.6711	0.51401	0.0:0.1816:0.8184:0.0	.	.	.	.	X	568;476	.	ENSP00000366384:S568X	S	-	2	0	ZNF311	29071055	0.002000	0.14202	0.002000	0.10522	0.994000	0.84299	1.178000	0.31981	0.869000	0.35703	0.585000	0.79938	TCA	ZNF311	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197935		0.493	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF311	HGNC	protein_coding	OTTHUMT00000076631.3	-	0	32	0	G	XM_212581		28963076	-1	tier1	-	no_errors	ENST00000377179	ensembl	human	known	74_37	nonsense	15.94	58	11	SNP	0.002	C	C	28963076	G	C	28963076	4	2	17	1	0	0	0	0	0	1	0	0	17882	1294	45	5	301	5	ZNF311	6	28963076	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1848507	28963076	142151991	87	4873											
SLC44A4	80736	genome.wustl.edu	37	chr6	31833354	31833354	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaacagcacatgatgCagcgggctacagggttctgc	11	8	12	10	1	1	2	0	2	1	0	1	2	1	2	0	2	6	4	0	2	2	3	rs537294061	byFrequency	TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:31833354C>G	ENST00000229729.6	-	16	1627	c.1607G>C	c.(1606-1608)tGc>tCc	p.C536S	SLC44A4_ENST00000544672.1_Missense_Mutation_p.C460S|SLC44A4_ENST00000375562.4_Missense_Mutation_p.C494S|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	536					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GCACATGATGCAGCGGGCTAC	0.527																																																	0													92	97	95					6																	31833354		1511	2709	4220	SO:0001583	missense	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1607G>C	6.37:g.31833354C>G	ENSP00000229729:p.Cys536Ser		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.C536S	ENST00000229729.6	37	c.1607	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685108	0.68157	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.24538	1.85;1.85;1.85	5.38	5.38	0.77491	.	0.051514	0.85682	D	0.000000	T	0.34745	0.0908	M	0.84948	2.725	0.41386	D	0.98758	B	0.22541	0.071	B	0.43082	0.407	T	0.22556	-1.0213	10	0.39692	T	0.17	-24.972	13.0601	0.59002	0.1609:0.8391:0.0:0.0	.	536	Q53GD3	CTL4_HUMAN	S	536;494;460	ENSP00000229729:C536S;ENSP00000364712:C494S;ENSP00000444109:C460S	ENSP00000229729:C536S	C	-	2	0	SLC44A4	31941333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.063000	0.57499	2.813000	0.96785	0.655000	0.94253	TGC	SLC44A4	-	pfam_Choline_transptr-like	ENSG00000204385		0.527	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	-	0	39	0	C			31833354	-1	tier1	-	no_errors	ENST00000229729	ensembl	human	known	74_37	missense	11.90	36	5	SNP	0.999	G	G	31833354	C	G	31833354	3	3	17	1	0	0	0	0	1	0	0	0	14683	710	25	5	549	5	SLC44A4	6	31833354	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	2870278	31833354	139281713	88	4874											
B3GALT4	8705	genome.wustl.edu	37	chr6	33246327	33246327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagcaatagcctggcttcaGagctgagagtgcctggggcc	8	7	15	11	1	1	2	1	1	0	2	1	4	1	2	3	3	4	3	3	3	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:33246327G>C	ENST00000451237.1	+	1	1411	c.1131G>C	c.(1129-1131)caG>caC	p.Q377H		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	377					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						CCTGGCTTCAGAGCTGAGAGT	0.622																																																	0													74	86	82					6																	33246327		2180	4286	6466	SO:0001583	missense	0			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"Beta 3-glycosyltransferases"	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.1131G>C	6.37:g.33246327G>C	ENSP00000390784:p.Gln377His			Missense_Mutation	SNP	pfam_Glyco_trans_31	p.Q377H	ENST00000451237.1	37	c.1131	CCDS34425.1	6	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315022	0.01331	.	.	ENSG00000235863	ENST00000451237	T	0.42900	0.96	4.78	-2.8	0.05823	.	0.545995	0.17239	N	0.181638	T	0.03434	0.0099	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41752	-0.9491	10	0.13853	T	0.58	.	5.0583	0.14544	0.0:0.25:0.2866:0.4634	.	377	O96024	B3GT4_HUMAN	H	377	ENSP00000390784:Q377H	ENSP00000390784:Q377H	Q	+	3	2	B3GALT4	33354305	0.156000	0.22821	0.028000	0.17463	0.863000	0.49368	-0.502000	0.06390	-0.393000	0.07739	-0.148000	0.13756	CAG	B3GALT4	-	NULL	ENSG00000235863		0.622	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2		0	41	0	G			33246327	1			no_errors	ENST00000451237	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.054	C	C	33246327	G	C	33246327	3	2	17	1	0	0	0	0	1	0	0	0	1250	933	33	5	1133	5	B3GALT4	6	33246327	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1412973	33246327	137868740	89	4875											
LHFPL5	222662	genome.wustl.edu	37	chr6	35782462	35782462	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttcatgctggccatcctCagcattggcgacgccctcat	6	10	9	16	2	3	0	3	0	0	0	4	1	4	0	4	2	2	2	4	2	0	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:35782462C>G	ENST00000373853.1	+	2	930	c.552C>G	c.(550-552)ctC>ctG	p.L184L	LHFPL5_ENST00000360215.1_Silent_p.L184L|LHFPL5_ENST00000496656.1_3'UTR			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	184					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TGGCCATCCTCAGCATTGGCG	0.622																																																	0													174	102	126					6																	35782462		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"deafness, autosomal recessive 67"	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.552C>G	6.37:g.35782462C>G			B3KX66	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.L184	ENST00000373853.1	37	c.552	CCDS4812.1	6																																																																																			LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000197753		0.622	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	-	0	68	0	C	NM_182548		35782462	1	tier1	-	no_errors	ENST00000360215	ensembl	human	known	74_37	silent	6.58	71	5	SNP	1.000	G	G	35782462	C	G	35782462	2	3	17	1	0	0	0	0	0	0	0	1	8797	813	29	5		5	LHFPL5	6	35782462	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	2536135	35782462	135332605	90	4876											
CDKN1A	1026	genome.wustl.edu	37	chr6	36652282	36652282	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agggtccccaggtggacctgGagactctcagggtcgaaaac	10	6	14	11	1	1	1	1	0	1	1	4	4	2	2	3	5	1	0	3	5	2	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:36652282G>C	ENST00000405375.1	+	2	639	c.404G>C	c.(403-405)gGa>gCa	p.G135A	CDKN1A_ENST00000448526.2_Missense_Mutation_p.G169A|CDKN1A_ENST00000244741.5_Missense_Mutation_p.G135A|CDKN1A_ENST00000373711.2_Missense_Mutation_p.G135A	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	135					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGTGGACCTGGAGACTCTCAG	0.587																																																	0													52	55	54					6																	36652282		2203	4300	6503	SO:0001583	missense	0			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.404G>C	6.37:g.36652282G>C	ENSP00000384849:p.Gly135Ala		Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	pfam_CDI	p.G169A	ENST00000405375.1	37	c.506	CCDS4824.1	6	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343773	0.24339	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.08	4.18	0.49190	.	0.512099	0.18261	N	0.146619	T	0.32971	0.0847	L	0.46157	1.445	0.18873	N	0.999987	P;P;P	0.48834	0.916;0.673;0.793	B;B;B	0.41202	0.35;0.268;0.35	T	0.20773	-1.0265	10	0.10377	T	0.69	-14.0636	10.8778	0.46921	0.0:0.0:0.8134:0.1866	.	169;135;135	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	A	169;135;135;135	ENSP00000409259:G169A;ENSP00000244741:G135A;ENSP00000384849:G135A;ENSP00000362815:G135A	ENSP00000244741:G135A	G	+	2	0	CDKN1A	36760260	0.270000	0.24152	0.042000	0.18584	0.323000	0.28346	3.387000	0.52501	2.644000	0.89710	0.561000	0.74099	GGA	CDKN1A	-	NULL	ENSG00000124762		0.587	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1A	HGNC	protein_coding	OTTHUMT00000040354.1		0	26	0	G	NM_078467		36652282	1			no_errors	ENST00000448526	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.197	C	C	36652282	G	C	36652282	3	2	17	1	0	0	0	0	1	0	0	0	3165	1174	41	5	406	5	CDKN1A	6	36652282	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	869820	36652282	134462785	91	4877											
MEA1	4201	genome.wustl.edu	37	chr6	42980987	42980987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaccccgtttcctcctgctCttcctcaggctcctcactgc	3	12	6	20	2	3	0	2	0	1	0	7	1	7	0	6	1	2	3	6	1	0	2	rs201793021		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:42980987C>G	ENST00000244711.3	-	2	323	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	KLHDC3_ENST00000244670.8_5'Flank|KLHDC3_ENST00000326974.4_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	57					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCTCCTGCTCTTCCTCAGGC	0.602																																																	0													108	110	109					6																	42980987		2203	4300	6503	SO:0001583	missense	0				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"male-enhanced antigen"	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.169G>C	6.37:g.42980987C>G	ENSP00000244711:p.Glu57Gln		Q5TC36|Q9BV01	Missense_Mutation	SNP	pfam_MEA1	p.E57Q	ENST00000244711.3	37	c.169	CCDS4879.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.147687	0.94603	.	.	ENSG00000124733	ENST00000244711	T	0.55413	0.52	6.07	6.07	0.98685	.	0.109197	0.64402	D	0.000007	T	0.50871	0.1641	L	0.27053	0.805	0.58432	D	0.999997	D	0.56968	0.978	P	0.57057	0.812	T	0.52624	-0.8551	10	0.62326	D	0.03	-4.0737	20.2629	0.98456	0.0:1.0:0.0:0.0	.	57	Q16626	MEA1_HUMAN	Q	57	ENSP00000244711:E57Q	ENSP00000244711:E57Q	E	-	1	0	MEA1	43088965	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.360000	0.73064	2.890000	0.99128	0.585000	0.79938	GAG	MEA1	-	pfam_MEA1	ENSG00000124733		0.602	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEA1	HGNC	protein_coding	OTTHUMT00000040574.2	-	0	66	0	C			42980987	-1	tier1	-	no_errors	ENST00000244711	ensembl	human	known	74_37	missense	13.64	76	12	SNP	1.000	G	G	42980987	C	G	42980987	3	3	17	1	0	0	0	0	1	0	0	0	9458	922	32	5	400	5	MEA1	6	42980987	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	6328705	42980987	128134080	92	4878											
TCTE1	202500	genome.wustl.edu	37	chr6	44250020	44250020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcctggccaccctcatcctCgatgcagttgagacgtaggt	8	9	11	13	2	1	1	1	1	0	1	3	3	2	1	4	2	2	3	4	2	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:44250020C>G	ENST00000371505.4	-	4	1245	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	375										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCATCCTCGATGCAGTTG	0.612																																																	0													233	177	196					6																	44250020		2203	4300	6503	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1123G>C	6.37:g.44250020C>G	ENSP00000360560:p.Glu375Gln		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E375Q	ENST00000371505.4	37	c.1123	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429629	0.25726	.	.	ENSG00000146221	ENST00000371505	T	0.53640	0.61	5.22	4.35	0.52113	.	0.225836	0.45867	D	0.000333	T	0.20129	0.0484	N	0.12831	0.26	0.80722	D	1	P	0.35011	0.48	B	0.41666	0.363	T	0.10314	-1.0635	10	0.23302	T	0.38	-38.7966	14.3335	0.66574	0.0:0.9277:0.0:0.0723	.	375	Q5JU00	TCTE1_HUMAN	Q	375	ENSP00000360560:E375Q	ENSP00000360560:E375Q	E	-	1	0	TCTE1	44357998	0.967000	0.33354	0.993000	0.49108	0.969000	0.65631	2.276000	0.43408	1.356000	0.45884	-0.463000	0.05309	GAG	TCTE1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000146221		0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	-	0	31	0	C	NM_182539		44250020	-1	tier1	-	no_errors	ENST00000371505	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.999	G	G	44250020	C	G	44250020	3	3	17	1	0	0	0	0	1	0	0	0	15764	893	31	5	390	5	TCTE1	6	44250020	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1269033	44250020	126865047	93	4879											
DST	667	genome.wustl.edu	37	chr6	56324949	56324949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaaactgtgttcggactCtggcagctgcagttgttatc	8	12	11	10	1	1	0	0	0	1	0	3	1	1	1	0	2	4	7	0	2	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:56324949C>G	ENST00000361203.3	-	97	22110	c.22103G>C	c.(22102-22104)aGa>aCa	p.R7368T	DST_ENST00000421834.2_Missense_Mutation_p.R5364T|DST_ENST00000244364.6_Missense_Mutation_p.R5078T|DST_ENST00000370754.5_Missense_Mutation_p.R7657T|DST_ENST00000370769.4_Missense_Mutation_p.R7479T|DST_ENST00000370788.2_Missense_Mutation_p.R5282T|DST_ENST00000446842.2_Missense_Mutation_p.R7153T|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7477					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTTCGGACTCTGGCAGCTGC	0.478																																																	0													73	79	77					6																	56324949		1972	4142	6114	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22103G>C	6.37:g.56324949C>G	ENSP00000354508:p.Arg7368Thr		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R7657T	ENST00000361203.3	37	c.22970		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.289979|3.289979	0.59976|0.59976	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.64085	.|1.01;-0.07;-0.08;-0.04;0.87;-0.04;-0.03	6.17|6.17	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.64402	.|D	.|0.000017	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.57536|0.57536	1.79|1.79	.|.	.|.	.|.	.|P;D;D;P;B;P;B;B	.|0.65815	.|0.651;0.99;0.995;0.651;0.23;0.514;0.415;0.0	.|B;P;P;B;B;B;B;B	.|0.59115	.|0.15;0.795;0.852;0.15;0.098;0.197;0.2;0.002	T|T	0.62525|0.62525	-0.6836|-0.6836	4|9	.|0.29301	.|T	.|0.29	.|.	11.5429|11.5429	0.50677|0.50677	0.0:0.8646:0.0:0.1354|0.0:0.8646:0.0:0.1354	.|.	.|5364;7479;7657;7477;5078;165;165;5282	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.|.;.;.;DYST_HUMAN;.;.;.;.	Q|T	166|5078;7657;7479;5364;7153;5282;7368	.|ENSP00000244364:R5078T;ENSP00000359790:R7657T;ENSP00000359805:R7479T;ENSP00000400883:R5364T;ENSP00000393645:R7153T;ENSP00000359824:R5282T;ENSP00000354508:R7368T	.|ENSP00000244364:R5078T	E|R	-|-	1|2	0|0	DST|DST	56432908|56432908	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	3.658000|3.658000	0.54482|0.54482	1.635000|1.635000	0.50512|0.50512	0.655000|0.655000	0.94253|0.94253	GAG|AGA	DST	-	NULL	ENSG00000151914		0.478	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	40	0	C	NM_001723		56324949	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.995	G	G	56324949	C	G	56324949	3	3	17	1	0	0	0	0	1	0	0	0	4797	913	32	5	290	5	DST	6	56324949	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	12074929	56324949	114790118	94	4880											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62688035	62688035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaataagcttccccaggtGgagcaaacacttcaattaat	14	10	8	9	0	1	1	1	1	0	0	2	2	2	2	2	2	3	2	2	2	5	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:62688035G>T	ENST00000281156.4	-	4	697	c.419C>A	c.(418-420)cCa>cAa	p.P140Q		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCCCCAGGTGGAGCAAACAC	0.373																																																	0													122	111	115					6																	62688035		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.419C>A	6.37:g.62688035G>T	ENSP00000281156:p.Pro140Gln		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.P140Q	ENST00000281156.4	37	c.419	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977582	0.92982	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.16457	2.34	5.46	5.46	0.80206	K Homology (1);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.66439	2.03	0.80722	D	1	P	0.50943	0.94	P	0.60117	0.869	T	0.01688	-1.1295	10	0.56958	D	0.05	-2.2923	19.3174	0.94220	0.0:0.0:1.0:0.0	.	140	Q5VWX1	KHDR2_HUMAN	Q	140	ENSP00000281156:P140Q	ENSP00000281156:P140Q	P	-	2	0	KHDRBS2	62745994	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.569000	0.86673	0.650000	0.86243	CCA	KHDRBS2	-	smart_KH_dom	ENSG00000112232		0.373	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2		0	32	0	G	NM_152688		62688035	-1			no_errors	ENST00000281156	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	62688035	G	T	62688035	3	4	17	1	0	0	0	0	1	0	0	0	8174	1348	47	3	654	3	KHDRBS2	6	62688035	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6363086	62688035	108427032	95	4881											
ME1	4199	genome.wustl.edu	37	chr6	83947511	83947511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtaaaccttctttttcCaaggccatcacaatcaggtg	10	14	7	10	0	3	0	2	0	1	0	4	0	4	0	3	3	1	1	3	3	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:83947511C>G	ENST00000369705.3	-	9	1067	c.951G>C	c.(949-951)ttG>ttC	p.L317F	ME1_ENST00000541327.1_Missense_Mutation_p.L151F|ME1_ENST00000543031.1_Missense_Mutation_p.L242F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	317					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		CTTCTTTTTCCAAGGCCATCA	0.343																																																	0													89	81	84					6																	83947511		2203	4300	6503	SO:0001583	missense	0			X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.951G>C	6.37:g.83947511C>G	ENSP00000358719:p.Leu317Phe		B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.L317F	ENST00000369705.3	37	c.951	CCDS34492.1	6	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548198	0.45383	.	.	ENSG00000065833	ENST00000369705;ENST00000541327;ENST00000543031	T;T;T	0.32515	1.45;1.45;1.45	5.64	4.78	0.61160	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.070244	0.85682	D	0.000000	T	0.26593	0.0650	L	0.54323	1.7	0.35300	D	0.782914	P	0.41393	0.748	P	0.47528	0.549	T	0.14755	-1.0461	10	0.87932	D	0	-15.9445	13.4813	0.61336	0.0:0.9234:0.0:0.0766	.	317	P48163	MAOX_HUMAN	F	317;151;242	ENSP00000358719:L317F;ENSP00000439912:L151F;ENSP00000446114:L242F	ENSP00000358719:L317F	L	-	3	2	ME1	84004230	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	7.149000	0.77396	1.395000	0.46643	-0.136000	0.14681	TTG	ME1	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000065833		0.343	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME1	HGNC	protein_coding	OTTHUMT00000041350.1	-	0	37	0	C			83947511	-1	tier1	-	no_errors	ENST00000369705	ensembl	human	known	74_37	missense	10.00	63	7	SNP	1.000	G	G	83947511	C	G	83947511	3	3	17	1	0	0	0	0	1	0	0	0	9455	593	21	5	791	5	ME1	6	83947511	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	21259476	83947511	87167556	96	4882											
MDN1	23195	genome.wustl.edu	37	chr6	90402667	90402667	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctctgggctacttgggcaGaccgtggcccatctatgtgg	5	10	15	11	1	2	1	0	0	2	1	2	1	2	1	2	5	1	3	2	5	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:90402667G>C	ENST00000369393.3	-	63	10197	c.10082C>G	c.(10081-10083)tCt>tGt	p.S3361C	MDN1_ENST00000428876.1_Missense_Mutation_p.S3361C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3361					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTTGGGCAGACCGTGGCCC	0.592																																																	0													60	51	54					6																	90402667		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10082C>G	6.37:g.90402667G>C	ENSP00000358400:p.Ser3361Cys		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.S3361C	ENST00000369393.3	37	c.10082	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989783	0.54041	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03607	3.87;3.87	5.19	5.19	0.71726	.	0.132235	0.52532	D	0.000067	T	0.05640	0.0148	M	0.62723	1.935	0.58432	D	0.999995	D	0.55172	0.97	P	0.47673	0.554	T	0.23976	-1.0173	10	0.66056	D	0.02	.	19.0637	0.93101	0.0:0.0:1.0:0.0	.	3361	Q9NU22	MDN1_HUMAN	C	3361	ENSP00000358400:S3361C;ENSP00000413970:S3361C	ENSP00000358400:S3361C	S	-	2	0	MDN1	90459388	1.000000	0.71417	0.955000	0.39395	0.484000	0.33280	8.759000	0.91667	2.578000	0.87016	0.491000	0.48974	TCT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.592	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	41	0	G			90402667	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.921	C	C	90402667	G	C	90402667	3	2	17	1	0	0	0	0	1	0	0	0	9453	942	33	5	6868	5	MDN1	6	90402667	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6455156	90402667	80712400	97	4883											
BEND3	57673	genome.wustl.edu	37	chr6	107391610	107391610	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaggccaggtccccccctGacaggctctggtccacgatc	6	6	12	17	1	1	1	0	1	1	0	4	2	3	1	5	5	0	2	5	5	0	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:107391610G>C	ENST00000369042.1	-	4	975	c.785C>G	c.(784-786)tCa>tGa	p.S262*	BEND3_ENST00000429433.2_Nonsense_Mutation_p.S262*			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	262	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GTCCCCCCCTGACAGGCTCTG	0.652																																																	0													23	23	23					6																	107391610		2200	4298	6498	SO:0001587	stop_gained	0			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.785C>G	6.37:g.107391610G>C	ENSP00000358038:p.Ser262*		A2RRH2|Q9HCL9	Nonsense_Mutation	SNP	pfam_BEN_domain	p.S262*	ENST00000369042.1	37	c.785	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.164404	0.98686	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	.	0.246207	0.34411	N	0.003987	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.2948	14.7543	0.69552	0.0:0.1442:0.8558:0.0	.	.	.	.	X	262	.	ENSP00000358038:S262X	S	-	2	0	BEND3	107498303	1.000000	0.71417	0.965000	0.40720	0.664000	0.39144	7.251000	0.78297	2.774000	0.95407	0.561000	0.74099	TCA	BEND3	-	NULL	ENSG00000178409		0.652	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	-	0	47	0	G	NM_020913		107391610	-1	tier1	-	no_errors	ENST00000369042	ensembl	human	known	74_37	nonsense	10.84	74	9	SNP	0.982	C	C	107391610	G	C	107391610	4	2	17	1	0	0	0	0	0	1	0	0	1400	1294	45	5	1705	5	BEND3	6	107391610	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	16988943	107391610	63723457	98	4884											
LAMA4	3910	genome.wustl.edu	37	chr6	112443245	112443245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatctccttttaagtgttCaaactcttggcggctgttgg	9	15	9	8	1	3	0	1	0	2	0	4	0	3	0	1	3	1	3	1	3	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:112443245C>G	ENST00000230538.7	-	32	4844	c.4447G>C	c.(4447-4449)Gaa>Caa	p.E1483Q	LAMA4_ENST00000389463.4_Missense_Mutation_p.E1476Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1476Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1476Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1483	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTAAGTGTTCAAACTCTTGG	0.443																																																	0													212	197	202					6																	112443245		2203	4300	6503	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4447G>C	6.37:g.112443245C>G	ENSP00000230538:p.Glu1483Gln		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.E1483Q	ENST00000230538.7	37	c.4447	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590174	0.46214	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.269972	0.41500	D	0.000876	T	0.05273	0.0140	L	0.29908	0.895	0.80722	D	1	B;B	0.20052	0.024;0.041	B;B	0.14578	0.005;0.011	T	0.24621	-1.0155	10	0.14252	T	0.57	.	12.6206	0.56601	0.0:0.9238:0.0:0.0762	.	1483;1476	Q16363;Q16363-2	LAMA4_HUMAN;.	Q	1483;1476;1476;1476	ENSP00000230538:E1483Q;ENSP00000429488:E1476Q;ENSP00000374114:E1476Q;ENSP00000416470:E1476Q	ENSP00000230538:E1483Q	E	-	1	0	LAMA4	112549938	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.148000	0.42235	2.644000	0.89710	0.561000	0.74099	GAA	LAMA4	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000112769		0.443	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	-	0	51	0	C	NM_001105206		112443245	-1	tier1	-	no_errors	ENST00000230538	ensembl	human	known	74_37	missense	11.63	76	10	SNP	1.000	G	G	112443245	C	G	112443245	3	3	17	1	0	0	0	0	1	0	0	0	8636	835	29	5	1056	5	LAMA4	6	112443245	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	5051635	112443245	58671822	99	4885											
LAMA4	3910	genome.wustl.edu	37	chr6	112496650	112496650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggggctaagttcatgctCttccccataatagagcatct	9	13	8	11	0	3	1	1	0	2	1	4	1	4	1	2	2	2	4	2	2	3	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:112496650C>T	ENST00000230538.7	-	11	1619	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E401K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E401K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E401K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	408	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTTCATGCTCTTCCCCATAA	0.473																																																	0													141	142	142					6																	112496650		2203	4300	6503	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1222G>A	6.37:g.112496650C>T	ENSP00000230538:p.Glu408Lys		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.E408K	ENST00000230538.7	37	c.1222	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	5.969	0.362761	0.11296	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	5.71	-1.57	0.08506	Laminin I (1);	0.719496	0.14444	N	0.319198	T	0.01320	0.0043	N	0.12182	0.205	0.48696	D	0.999691	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.42413	-0.9453	10	0.09084	T	0.74	.	7.577	0.27942	0.0:0.3341:0.4186:0.2473	.	408;401	Q16363;Q16363-2	LAMA4_HUMAN;.	K	408;401;401;401	ENSP00000230538:E408K;ENSP00000429488:E401K;ENSP00000374114:E401K;ENSP00000416470:E401K	ENSP00000230538:E408K	E	-	1	0	LAMA4	112603343	0.031000	0.19500	0.087000	0.20705	0.675000	0.39556	0.100000	0.15231	-0.050000	0.13356	0.655000	0.94253	GAG	LAMA4	-	pfam_Laminin_I	ENSG00000112769		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2		0	23	0	C	NM_001105206		112496650	-1			no_errors	ENST00000230538	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.008	T	T	112496650	C	T	112496650	3	4	17	1	0	0	0	0	1	0	0	0	8636	922	32	3	4365	3	LAMA4	6	112496650	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	53405	112496650	58618417	100	4886											
FUCA2	2519	genome.wustl.edu	37	chr6	143825347	143825347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttgggcccctcatctatgGcattccagttccacgaatat	8	13	7	13	1	3	0	1	0	2	0	5	1	5	0	4	2	0	2	4	2	3	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:143825347G>T	ENST00000002165.6	-	3	510	c.455C>A	c.(454-456)gCc>gAc	p.A152D	RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	152					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTCATCTATGGCATTCCAGTT	0.408																																																	0													106	110	109					6																	143825347		2203	4300	6503	SO:0001583	missense	0			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.455C>A	6.37:g.143825347G>T	ENSP00000002165:p.Ala152Asp		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.A152D	ENST00000002165.6	37	c.455	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860760	0.91433	.	.	ENSG00000001036	ENST00000002165	T	0.57907	0.37	5.61	5.61	0.85477	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.100870	0.64402	D	0.000002	T	0.79587	0.4471	H	0.95884	3.735	0.80722	D	1	D	0.60575	0.988	D	0.67548	0.952	D	0.85876	0.1419	10	0.87932	D	0	-17.892	19.6306	0.95700	0.0:0.0:1.0:0.0	.	152	Q9BTY2	FUCO2_HUMAN	D	152	ENSP00000002165:A152D	ENSP00000002165:A152D	A	-	2	0	FUCA2	143867040	1.000000	0.71417	0.483000	0.27378	0.735000	0.41995	9.471000	0.97696	2.623000	0.88846	0.650000	0.86243	GCC	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub	ENSG00000001036		0.408	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2		0	18	0	G	NM_032020		143825347	-1			no_errors	ENST00000002165	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.966	T	T	143825347	G	T	143825347	3	4	17	1	0	0	0	0	1	0	0	0	6119	1203	42	3	968	3	FUCA2	6	143825347	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	31328697	143825347	27289720	101	4887											
SYNE1	23345	genome.wustl.edu	37	chr6	152644662	152644662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctgcatgagcggaggctCttccccaggggttggggcgg	4	9	17	11	2	1	1	0	1	1	0	3	2	3	2	3	7	2	3	3	7	0	3	rs555495237		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:152644662C>G	ENST00000367255.5	-	82	16469	c.15868G>C	c.(15868-15870)Gag>Cag	p.E5290Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.E5290Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E5219Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4983Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5219Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5290					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCGGAGGCTCTTCCCCAGGG	0.547										HNSCC(10;0.0054)																																							0													70	71	71					6																	152644662		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15868G>C	6.37:g.152644662C>G	ENSP00000356224:p.Glu5290Gln		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E5290Q	ENST00000367255.5	37	c.15868	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715168	0.15306	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55052	0.63;0.63;0.54;0.63;1.36	5.35	4.48	0.54585	.	0.106561	0.40908	D	0.000987	T	0.30293	0.0760	L	0.59436	1.845	0.80722	D	1	B;B;B;B	0.10296	0.003;0.002;0.002;0.003	B;B;B;B	0.19148	0.024;0.006;0.006;0.021	T	0.12811	-1.0533	10	0.21014	T	0.42	.	9.9502	0.41634	0.0:0.7846:0.1404:0.075	.	5290;5290;5290;5219	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	5290;5219;5290;5219;4983	ENSP00000356224:E5290Q;ENSP00000396024:E5219Q;ENSP00000265368:E5290Q;ENSP00000390975:E5219Q;ENSP00000341887:E4983Q	ENSP00000265368:E5290Q	E	-	1	0	SYNE1	152686355	0.975000	0.34042	0.447000	0.26932	0.004000	0.04260	1.851000	0.39338	2.503000	0.84419	0.591000	0.81541	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	27	0	C	NM_182961		152644662	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.990	G	G	152644662	C	G	152644662	3	3	17	1	0	0	0	0	1	0	0	0	15492	922	32	5	10858	5	SYNE1	6	152644662	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	8819315	152644662	18470405	102	4888											
RBM16	22828	genome.wustl.edu	37	chr6	155153402	155153402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaatactcctggacttCtgggaacacagccaccagct	11	9	7	14	0	1	0	0	0	1	0	3	2	3	2	4	2	4	1	4	2	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:155153402C>A	ENST00000367178.3	+	20	3265	c.2689C>A	c.(2689-2691)Ctg>Atg	p.L897M	TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Missense_Mutation_p.L963M|SCAF8_ENST00000417268.1_Missense_Mutation_p.L897M	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	897	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TCCTGGACTTCTGGGAACACA	0.458																																																	0													107	112	111					6																	155153402		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2689C>A	6.37:g.155153402C>A	ENSP00000356146:p.Leu897Met		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.L963M	ENST00000367178.3	37	c.2887	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	C	9.270	1.045402	0.19748	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.53640	0.63;0.63;0.61	5.58	1.91	0.25777	.	0.101689	0.38959	U	0.001520	T	0.14184	0.0343	L	0.35723	1.085	0.34327	D	0.687282	P;P;P	0.43287	0.802;0.802;0.615	B;B;B	0.37091	0.122;0.122;0.241	T	0.04870	-1.0921	10	0.44086	T	0.13	.	2.7618	0.05308	0.3299:0.2874:0.0:0.3827	.	942;963;897	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	M	897;897;963	ENSP00000356146:L897M;ENSP00000413098:L897M;ENSP00000356154:L963M	ENSP00000356146:L897M	L	+	1	2	SCAF8	155195094	0.583000	0.26757	1.000000	0.80357	0.999000	0.98932	0.515000	0.22801	0.397000	0.25310	0.655000	0.94253	CTG	SCAF8	-	NULL	ENSG00000213079		0.458	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF8	HGNC	protein_coding	OTTHUMT00000042798.1	-	0	33	0	C	NM_014892		155153402	1	tier1	-	no_errors	ENST00000367186	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.996	A	A	155153402	C	A	155153402	3	1	17	1	0	0	0	0	1	0	0	0	13163	912	32	3	2767	3	RBM16	6	155153402	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	2508740	155153402	15961665	103	4889											
ACAT2	39	genome.wustl.edu	37	chr6	160196340	160196340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagttttggtgtcaactaGaaaaggtgagtatatcatag	14	12	10	5	0	2	2	2	1	0	1	2	2	2	2	1	2	1	2	1	2	7	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:160196340G>A	ENST00000367048.4	+	5	2389	c.629G>A	c.(628-630)aGa>aAa	p.R210K	ACAT2_ENST00000541436.1_Missense_Mutation_p.R239K|ACAT2_ENST00000472052.1_3'UTR	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	210					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTGTCAACTAGAAAAGGTGAG	0.358																																																	0													97	87	91					6																	160196340		2203	4300	6503	SO:0001583	missense	0			AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	100678	"acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)", "acetyl-Coenzyme A acetyltransferase 2"			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.629G>A	6.37:g.160196340G>A	ENSP00000356015:p.Arg210Lys		B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.R239K	ENST00000367048.4	37	c.716	CCDS5268.1	6	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194027	0.58017	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	D;D	0.90197	-2.63;-2.63	5.65	4.73	0.59995	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.085635	0.85682	N	0.000000	T	0.74839	0.3769	N	0.25957	0.775	0.58432	D	0.99999	B;B	0.09022	0.002;0.001	B;B	0.13407	0.009;0.005	T	0.70930	-0.4738	10	0.30854	T	0.27	-9.1635	11.0465	0.47861	0.1689:0.0:0.8311:0.0	.	239;210	B7Z233;Q9BWD1	.;THIC_HUMAN	K	210;239	ENSP00000356015:R210K;ENSP00000437850:R239K	ENSP00000356015:R210K	R	+	2	0	ACAT2	160116330	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	6.059000	0.71133	1.294000	0.44707	0.563000	0.77884	AGA	ACAT2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000120437		0.358	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT2	HGNC	protein_coding	OTTHUMT00000042912.1	-	0	47	0	G	NM_005891		160196340	1	tier1	-	no_errors	ENST00000541436	ensembl	human	known	74_37	missense	11.59	61	8	SNP	1.000	A	A	160196340	G	A	160196340	3	1	17	1	0	0	0	0	1	0	0	0	122	942	33	3	647	3	ACAT2	6	160196340	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	5042938	160196340	10918727	104	4890											
TBP	6908	genome.wustl.edu	37	chr6	170871004	170871004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaacaaaggcagcagcaGcaacaacaacagcagcagca	19	0	10	12	0	0	0	0	0	0	0	0	1	0	0	0	1	11	8	0	1	5	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr6:170871004G>A	ENST00000392092.2	+	3	459	c.180G>A	c.(178-180)caG>caA	p.Q60Q	TBP_ENST00000540980.1_Silent_p.Q40Q|TBP_ENST00000230354.6_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	60	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		Ggcagcagcagcaacaacaac	0.542																																																	0													43	45	44					6																	170871004		2203	4300	6503	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.180G>A	6.37:g.170871004G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q60	ENST00000392092.2	37	c.180	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.542	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0	45	0	G	NM_003194		170871004	1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	silent	13.79	75	12	SNP	0.991	A	A	170871004	G	A	170871004	2	1	17	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871004	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	10674664	170871004	244063	105	4891											
PSMG3	84262	genome.wustl.edu	37	chr7	1608892	1608892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaccaggatgtgactgctGaaggccgtacacaccacctg	11	6	10	14	1	0	2	0	2	0	0	0	3	0	3	5	2	2	2	5	2	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:1608892G>A	ENST00000288607.2	-	1	737	c.84C>T	c.(82-84)ttC>ttT	p.F28F	PSMG3_ENST00000404674.3_Silent_p.F28F|PSMG3_ENST00000252329.3_Silent_p.F28F|PSMG3-AS1_ENST00000437621.2_lincRNA	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	28										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		TGTGACTGCTGAAGGCCGTAC	0.632																																																	0													47	42	43					7																	1608892		2203	4300	6503	SO:0001819	synonymous_variant	0			BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 48"	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.84C>T	7.37:g.1608892G>A			A4D216|A8MPW2	Silent	SNP	pfam_Proteasome_assmbl_chp_3	p.F28	ENST00000288607.2	37	c.84	CCDS5327.1	7																																																																																			PSMG3	-	NULL	ENSG00000157778		0.632	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PSMG3	HGNC	protein_coding	OTTHUMT00000239254.2		0	19	0	G	NM_032302		1608892	-1			no_errors	ENST00000252329	ensembl	human	known	74_37	silent	12.70	55	8	SNP	1.000	A	A	1608892	G	A	1608892	2	1	17	1	0	0	0	0	0	0	0	1	12755	1281	45	3		3	PSMG3	7	1608892	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		1608892	157529771	106	4892											
CHST12	55501	genome.wustl.edu	37	chr7	2472467	2472467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagctcacggccgactccGatgtcgacgagtttctggac	7	8	14	12	5	2	0	1	0	1	0	4	6	3	2	2	3	1	2	2	3	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:2472467G>A	ENST00000258711.6	+	2	328	c.193G>A	c.(193-195)Gat>Aat	p.D65N		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	65					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGCCGACTCCGATGTCGACGA	0.662																																																	0													43	50	48					7																	2472467		2203	4300	6503	SO:0001583	missense	0			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.193G>A	7.37:g.2472467G>A	ENSP00000258711:p.Asp65Asn		A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.D65N	ENST00000258711.6	37	c.193	CCDS5333.1	7	.	.	.	.	.	.	.	.	.	.	G	7.763	0.705783	0.15172	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.63744	-0.06;0.69	4.94	2.08	0.27032	.	0.723385	0.13637	N	0.373258	T	0.46034	0.1372	M	0.62723	1.935	0.09310	N	1	P	0.48640	0.913	B	0.25614	0.062	T	0.30966	-0.9960	10	0.19590	T	0.45	-9.985	9.0809	0.36552	0.2439:0.0:0.7561:0.0	.	65	Q9NRB3	CHSTC_HUMAN	N	65	ENSP00000258711:D65N;ENSP00000411207:D65N	ENSP00000258711:D65N	D	+	1	0	CHST12	2438993	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.781000	0.26774	0.130000	0.18549	0.555000	0.69702	GAT	CHST12	-	NULL	ENSG00000136213		0.662	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	-	0	65	0	G	NM_018641		2472467	1	tier1	-	no_errors	ENST00000258711	ensembl	human	known	74_37	missense	8.45	130	12	SNP	0.001	A	A	2472467	G	A	2472467	3	1	17	1	0	0	0	0	1	0	0	0	3407	1058	37	1	195	1	CHST12	7	2472467	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	863575	2472467	156666196	107	4893											
TNRC18	84629	genome.wustl.edu	37	chr7	5396810	5396810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccgaaaacttgaagggcGacttcaacttgtcctgcttg	9	12	10	10	2	1	1	1	1	0	0	3	3	3	1	2	1	3	1	2	1	4	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:5396810G>A	ENST00000430969.1	-	16	5279	c.4931C>T	c.(4930-4932)tCg>tTg	p.S1644L	TNRC18_ENST00000399537.4_Missense_Mutation_p.S1644L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1644							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTGAAGGGCGACTTCAACTT	0.552																																																	0													41	41	41					7																	5396810		2033	4179	6212	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4931C>T	7.37:g.5396810G>A	ENSP00000395538:p.Ser1644Leu		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S1644L	ENST00000430969.1	37	c.4931	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	27.6	4.850138	0.91277	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.52983	2.38;2.33;0.64	5.25	5.25	0.73442	.	0.000000	0.34603	N	0.003839	T	0.38746	0.1052	L	0.45137	1.4	0.38584	D	0.950266	P;P	0.44429	0.772;0.835	B;B	0.32211	0.142;0.06	T	0.44877	-0.9299	10	0.38643	T	0.18	.	18.8572	0.92257	0.0:0.0:1.0:0.0	.	699;1644	A8MSW5;O15417	.;TNC18_HUMAN	L	1644;1644;699;134	ENSP00000382452:S1644L;ENSP00000395538:S1644L;ENSP00000395990:S134L	ENSP00000382452:S1644L	S	-	2	0	TNRC18	5363336	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.164000	0.71885	2.456000	0.83038	0.561000	0.74099	TCG	TNRC18	-	NULL	ENSG00000182095		0.552	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		-	0	50	0	G			5396810	-1	tier1	-	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	11.32	94	12	SNP	1.000	A	A	5396810	G	A	5396810	3	1	17	1	0	0	0	0	1	0	0	0	16386	1059	37	1	4035	1	TNRC18	7	5396810	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2924343	5396810	153741853	108	4894											
STK31	56164	genome.wustl.edu	37	chr7	23826213	23826213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagaagctgaaggagaCtcagggttactgccattgat	12	9	14	6	0	1	4	1	2	0	2	1	7	1	5	1	3	3	2	1	3	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:23826213C>G	ENST00000355870.3	+	19	2480	c.2361C>G	c.(2359-2361)gaC>gaG	p.D787E	STK31_ENST00000433467.2_Missense_Mutation_p.D787E|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.D764E|STK31_ENST00000354639.3_Missense_Mutation_p.D764E	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	787	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAAGGAGACTCAGGGTTAC	0.398																																																	0													123	113	117					7																	23826213		2203	4300	6503	SO:0001583	missense	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"Tudor domain containing"	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2361C>G	7.37:g.23826213C>G	ENSP00000348132:p.Asp787Glu		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom	p.D787E	ENST00000355870.3	37	c.2361	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	C	0.688	-0.795616	0.02862	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.73575	-0.76;2.15;-0.76;-0.76	5.17	-1.08	0.09936	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.428344	0.23362	N	0.049012	T	0.31888	0.0811	N	0.01576	-0.805	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33979	-0.9847	10	0.02654	T	1	-0.2871	0.8931	0.01258	0.3376:0.1133:0.3205:0.2286	.	787;787	B4DZ06;Q9BXU1	.;STK31_HUMAN	E	787;787;764;764	ENSP00000348132:D787E;ENSP00000411852:D787E;ENSP00000346660:D764E;ENSP00000406146:D764E	ENSP00000346660:D764E	D	+	3	2	STK31	23792738	0.393000	0.25237	0.924000	0.36721	0.824000	0.46624	-0.520000	0.06252	-0.290000	0.09025	-0.359000	0.07587	GAC	STK31	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000196335		0.398	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	-	0	56	0	C	NM_031414		23826213	1	tier1	-	no_errors	ENST00000355870	ensembl	human	known	74_37	missense	35.64	64	36	SNP	0.955	G	G	23826213	C	G	23826213	3	3	17	1	0	0	0	0	1	0	0	0	15343	564	20	5	2435	5	STK31	7	23826213	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	18429403	23826213	135312450	109	4895											
STARD3NL	83930	genome.wustl.edu	37	chr7	38259194	38259194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagttcaggatgcttcagaGagggcagcacttatacctgg	11	10	12	8	0	2	1	2	0	0	1	2	3	2	2	1	3	3	4	1	3	3	5	rs376265781		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:38259194G>C	ENST00000009041.7	+	7	839	c.582G>C	c.(580-582)gaG>gaC	p.E194D	STARD3NL_ENST00000396013.1_Missense_Mutation_p.E194D|STARD3NL_ENST00000434197.1_Missense_Mutation_p.E176D|STARD3NL_ENST00000544203.1_Missense_Mutation_p.E187D	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	194	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.					endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ATGCTTCAGAGAGGGCAGCAC	0.413																																																	0													148	137	141					7																	38259194		2203	4300	6503	SO:0001583	missense	0			AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.582G>C	7.37:g.38259194G>C	ENSP00000009041:p.Glu194Asp		A4D1X0	Missense_Mutation	SNP	pfam_MENTAL	p.E194D	ENST00000009041.7	37	c.582	CCDS5455.1	7	.	.	.	.	.	.	.	.	.	.	G	19.80	3.893926	0.72639	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000429075	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.89	5.89	0.94794	MENTAL domain (2);	0.047154	0.85682	D	0.000000	T	0.52549	0.1741	L	0.49455	1.56	0.49687	D	0.999816	P;P	0.48294	0.899;0.908	P;P	0.52031	0.688;0.472	T	0.44513	-0.9323	10	0.34782	T	0.22	-16.1369	12.3726	0.55263	0.0778:0.0:0.9222:0.0	.	176;194	C9JKL2;O95772	.;MENTO_HUMAN	D	194;187;176;194;194	ENSP00000009041:E194D;ENSP00000439436:E187D;ENSP00000394000:E176D;ENSP00000379334:E194D;ENSP00000402028:E194D	ENSP00000009041:E194D	E	+	3	2	STARD3NL	38225719	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.794000	0.38774	2.793000	0.96121	0.643000	0.83706	GAG	STARD3NL	-	pfam_MENTAL	ENSG00000010270		0.413	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3NL	HGNC	protein_coding	OTTHUMT00000226929.2	-	0	73	0	G			38259194	1	tier1	-	no_errors	ENST00000009041	ensembl	human	known	74_37	missense	13.67	120	19	SNP	1.000	C	C	38259194	G	C	38259194	3	2	17	1	0	0	0	0	1	0	0	0	15305	933	33	5	604	5	STARD3NL	7	38259194	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	14432981	38259194	120879469	110	4896											
CRCP	27297	genome.wustl.edu	37	chr7	65617257	65617257	+	Silent	SNP	C	C	A																															gaagctcttctccacaccgtCaccagcattctgcctgcaga																										TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:65617257C>A	ENST00000395326.3	+	6	718	c.360C>A	c.(358-360)gtC>gtA	p.V120V	RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000398684.2_Silent_p.V43V|CRCP_ENST00000338592.5_Silent_p.V87V|CRCP_ENST00000431089.2_Silent_p.V113V|CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000415001.2_Silent_p.V87V	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	120					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						TCCACACCGTCACCAGCATTC	0.512																																																	0													84	74	77					7																	65617257		2203	4300	6503	SO:0001819	synonymous_variant	0			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"calcitonin gene-related peptide-receptor component protein"	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.360C>A	7.37:g.65617257C>A			A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Silent	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.V120	ENST00000395326.3	37	c.360	CCDS5532.1	7																																																																																			CRCP	-	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	ENSG00000241258		0.512	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCP	HGNC	protein_coding	OTTHUMT00000251697.2		0	23	0	C	NM_014478		65617257	1			no_errors	ENST00000395326	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.998	A	A	65617257	C	A	65617257	2	1	17	1	0	0	0	0	0	0	0	1	3859	813	29	3		3	CRCP	7	65617257	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	27358063	65617257	93521406	111	4897	17	2									
CRCP	27297	genome.wustl.edu	37	chr7	65617267	65617267	+	Silent	SNP	C	C	T																															tccacaccgtcaccagcattCtgcctgcagagccagaggct																										TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:65617267C>T	ENST00000395326.3	+	6	728	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000398684.2_Silent_p.L47L|CRCP_ENST00000338592.5_Silent_p.L91L|CRCP_ENST00000431089.2_Silent_p.L117L|CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000415001.2_Silent_p.L91L	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	124					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						CACCAGCATTCTGCCTGCAGA	0.547																																																	0													82	72	76					7																	65617267		2203	4300	6503	SO:0001819	synonymous_variant	0			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"calcitonin gene-related peptide-receptor component protein"	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.370C>T	7.37:g.65617267C>T			A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Silent	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.L124	ENST00000395326.3	37	c.370	CCDS5532.1	7																																																																																			CRCP	-	superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	ENSG00000241258		0.547	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCP	HGNC	protein_coding	OTTHUMT00000251697.2		0	22	0	C	NM_014478		65617267	1			no_errors	ENST00000395326	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	T	T	65617267	C	T	65617267	2	4	17	1	0	0	0	0	0	0	0	1	3859	912	32	3		3	CRCP	7	65617267	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	10	65617267	93521396	112	4898	17	2									
ZNF804B	219578	genome.wustl.edu	37	chr7	88963860	88963860	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtctcaggtttaactgaaGaccaacaaaaattgatccaa	18	9	6	8	0	1	3	1	2	1	1	3	3	2	3	2	1	2	1	2	1	7	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:88963860G>C	ENST00000333190.4	+	4	2173	c.1564G>C	c.(1564-1566)Gac>Cac	p.D522H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	522							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTAACTGAAGACCAACAAAA	0.368										HNSCC(36;0.09)																																							0													42	44	43					7																	88963860		2200	4300	6500	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1564G>C	7.37:g.88963860G>C	ENSP00000329638:p.Asp522His		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.D522H	ENST00000333190.4	37	c.1564	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	7.921	0.738614	0.15642	.	.	ENSG00000182348	ENST00000333190	T	0.05319	3.46	5.49	5.49	0.81192	.	0.251558	0.35262	N	0.003339	T	0.05914	0.0154	L	0.43152	1.355	0.30892	N	0.730203	P	0.36378	0.55	B	0.26614	0.071	T	0.13176	-1.0519	10	0.29301	T	0.29	-8.7811	12.9941	0.58635	0.0:0.2091:0.7909:0.0	.	522	A4D1E1	Z804B_HUMAN	H	522	ENSP00000329638:D522H	ENSP00000329638:D522H	D	+	1	0	ZNF804B	88801796	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	1.414000	0.34736	2.865000	0.98341	0.655000	0.94253	GAC	ZNF804B	-	NULL	ENSG00000182348		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	38	0	G	NM_181646		88963860	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	C	C	88963860	G	C	88963860	3	2	17	1	0	0	0	0	1	0	0	0	18219	942	33	5	1578	5	ZNF804B	7	88963860	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	23346593	88963860	70174803	113	4899											
TMEM209	84928	genome.wustl.edu	37	chr7	129832592	129832592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaacggtagcgagatctCaatccactgctctccactgg	11	8	10	12	2	2	2	1	0	2	2	5	4	3	2	2	2	3	2	2	2	4	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:129832592C>G	ENST00000397622.2	-	6	767	c.645G>C	c.(643-645)ttG>ttC	p.L215F	TMEM209_ENST00000336804.8_Missense_Mutation_p.L214F|TMEM209_ENST00000462753.1_Missense_Mutation_p.L214F|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Missense_Mutation_p.L215F	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	215	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGCGAGATCTCAATCCACTGC	0.453																																																	0													104	106	106					7																	129832592		1904	4127	6031	SO:0001583	missense	0				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.645G>C	7.37:g.129832592C>G	ENSP00000380747:p.Leu215Phe		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.L215F	ENST00000397622.2	37	c.645	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763590	0.49574	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.73598	2.24	0.51767	D	0.999935	D;D	0.58268	0.977;0.982	P;P	0.60473	0.803;0.875	T	0.39418	-0.9615	10	0.32370	T	0.25	-12.4272	14.3345	0.66578	0.0:0.9267:0.0:0.0733	.	215;215	Q96SK2-3;Q96SK2	.;TM209_HUMAN	F	215;214;215;214	ENSP00000380747:L215F;ENSP00000419697:L214F;ENSP00000417258:L215F;ENSP00000338388:L214F	ENSP00000338388:L214F	L	-	3	2	TMEM209	129619828	1.000000	0.71417	0.857000	0.33713	0.260000	0.26232	1.577000	0.36515	2.835000	0.97688	0.591000	0.81541	TTG	TMEM209	-	pfam_Cytochrome_B561-rel	ENSG00000146842		0.453	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	-	0	74	0	C	NM_032842		129832592	-1	tier1	-	no_errors	ENST00000397622	ensembl	human	known	74_37	missense	19.54	70	17	SNP	1.000	G	G	129832592	C	G	129832592	3	3	17	1	0	0	0	0	1	0	0	0	16181	825	29	5	1080	5	TMEM209	7	129832592	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	40868732	129832592	29306071	114	4900											
BPGM	669	genome.wustl.edu	37	chr7	134346821	134346821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccattctgatatctgctCatggaaatagcagtagggca	14	10	9	8	0	3	1	1	1	2	0	3	2	3	2	1	2	3	4	1	2	5	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:134346821C>G	ENST00000393132.2	+	3	1051	c.562C>G	c.(562-564)Cat>Gat	p.H188D	BPGM_ENST00000418040.1_Missense_Mutation_p.H188D|BPGM_ENST00000344924.3_Missense_Mutation_p.H188D	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	188	2,3-bisphospho-D-glycerate binding.				carbohydrate metabolic process (GO:0005975)|erythrocyte development (GO:0048821)|glycolytic process (GO:0006096)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)	bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|phosphoglycerate mutase activity (GO:0004619)			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GATATCTGCTCATGGAAATAG	0.428																																																	0													74	72	73					7																	134346821		2203	4300	6503	SO:0001583	missense	0			BC017050	CCDS5833.1	7q33	2012-10-02			ENSG00000172331	ENSG00000172331	5.4.2.4		1093	protein-coding gene	gene with protein product		613896					Standard	NM_199186		Approved		uc003vrw.3	P07738	OTTHUMG00000155380	ENST00000393132.2:c.562C>G	7.37:g.134346821C>G	ENSP00000376840:p.His188Asp		A4D1N9	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	p.H188D	ENST00000393132.2	37	c.562	CCDS5833.1	7	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709150	0.89018	.	.	ENSG00000172331	ENST00000344924;ENST00000418040;ENST00000393132	D;D;D	0.98684	-5.07;-5.07;-5.07	6.02	6.02	0.97574	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	H	0.99800	4.79	0.80722	D	1	P	0.43412	0.806	P	0.51055	0.657	D	0.97807	1.0248	10	0.87932	D	0	-30.6905	20.5373	0.99239	0.0:1.0:0.0:0.0	.	188	P07738	PMGE_HUMAN	D	188	ENSP00000342032:H188D;ENSP00000399838:H188D;ENSP00000376840:H188D	ENSP00000342032:H188D	H	+	1	0	BPGM	133997361	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.857000	0.98124	0.650000	0.86243	CAT	BPGM	-	pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1	ENSG00000172331		0.428	BPGM-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BPGM	HGNC	protein_coding	OTTHUMT00000339763.1	-	0	38	0	C	NM_001724		134346821	1	tier1	-	no_errors	ENST00000344924	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	G	G	134346821	C	G	134346821	3	3	17	1	0	0	0	0	1	0	0	0	1492	826	29	5	564	5	BPGM	7	134346821	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	4514229	134346821	24791842	115	4901											
SLC13A4	26266	genome.wustl.edu	37	chr7	135386446	135386446	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgggatgggtgttgcttCttgccctggtgttggtttgc	2	16	15	8	0	1	0	0	0	1	0	1	1	1	1	2	4	3	4	2	4	0	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:135386446C>G	ENST00000354042.4	-	7	1382	c.693G>C	c.(691-693)aaG>aaC	p.K231N	RP11-644N4.1_ENST00000609370.1_RNA	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	231					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGTGTTGCTTCTTGCCCTGGT	0.507																																																	0													386	286	320					7																	135386446		2203	4300	6503	SO:0001583	missense	0			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.693G>C	7.37:g.135386446C>G	ENSP00000297282:p.Lys231Asn		A4D1Q4|Q8N631	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.K231N	ENST00000354042.4	37	c.693	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852145	0.32699	.	.	ENSG00000164707	ENST00000354042	T	0.69040	-0.37	4.94	4.94	0.65067	.	0.449691	0.22165	N	0.063723	T	0.44891	0.1315	N	0.08118	0	0.31760	N	0.633494	B;B	0.10296	0.003;0.001	B;B	0.16289	0.015;0.001	T	0.48514	-0.9029	10	0.33940	T	0.23	.	10.7033	0.45939	0.1902:0.8098:0.0:0.0	.	100;231	Q59HF0;Q9UKG4	.;S13A4_HUMAN	N	231	ENSP00000297282:K231N	ENSP00000297282:K231N	K	-	3	2	SLC13A4	135036986	1.000000	0.71417	0.991000	0.47740	0.953000	0.61014	2.173000	0.42472	2.551000	0.86045	0.655000	0.94253	AAG	SLC13A4	-	pfam_Na/sul_symport	ENSG00000164707		0.507	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	HGNC	protein_coding	OTTHUMT00000340558.1	-	0	179	0	C	NM_012450		135386446	-1	tier1	-	no_errors	ENST00000354042	ensembl	human	known	74_37	missense	14.15	181	30	SNP	1.000	G	G	135386446	C	G	135386446	3	3	17	1	0	0	0	0	1	0	0	0	14439	912	32	5	1227	5	SLC13A4	7	135386446	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1039625	135386446	23752217	116	4902											
MLL3	58508	genome.wustl.edu	37	chr7	151859780	151859780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcggtggggcagttatatCtgaatggggagttgatggag	9	11	18	3	1	1	2	0	2	1	0	2	4	1	4	0	6	0	3	0	6	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:151859780C>T	ENST00000262189.6	-	43	11100	c.10882G>A	c.(10882-10884)Gat>Aat	p.D3628N	KMT2C_ENST00000355193.2_Missense_Mutation_p.D3628N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3628					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCAGTTATATCTGAATGGGGA	0.468																																																	0													92	85	87					7																	151859780		2203	4300	6503	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10882G>A	7.37:g.151859780C>T	ENSP00000262189:p.Asp3628Asn		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D3628N	ENST00000262189.6	37	c.10882	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.92|19.92	3.915997|3.915997	0.73098|0.73098	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.91011|.	-1.98;-1.9;-2.77|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.47852|.	D|.	0.000217|.	T|T	0.75250|0.75250	0.3824|0.3824	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.996;0.998;0.998|.	T|T	0.73135|0.73135	-0.4078|-0.4078	10|5	0.48119|.	T|.	0.1|.	.|.	19.4545|19.4545	0.94882|0.94882	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3628;2689;3628|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	N|K	3628;3628;214|1133	ENSP00000262189:D3628N;ENSP00000347325:D3628N;ENSP00000410411:D214N|.	ENSP00000262189:D3628N|.	D|R	-|-	1|2	0|0	MLL3|MLL3	151490713|151490713	1.000000|1.000000	0.71417|0.71417	0.668000|0.668000	0.29813|0.29813	0.993000|0.993000	0.82548|0.82548	7.480000|7.480000	0.81109|0.81109	2.590000|2.590000	0.87494|0.87494	0.650000|0.650000	0.86243|0.86243	GAT|AGA	KMT2C	-	NULL	ENSG00000055609		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	37	0	C			151859780	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	20.00	56	14	SNP	1.000	T	T	151859780	C	T	151859780	3	4	17	1	0	0	0	0	1	0	0	0	9660	913	32	3	3921	3	MLL3	7	151859780	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	16473334	151859780	7278883	117	4903											
UBE3C	9690	genome.wustl.edu	37	chr7	156963014	156963014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtattccatccaaagaaGtgcatttgatcgctgtgcta	11	12	8	10	1	0	2	0	1	0	1	3	2	2	2	3	0	2	4	3	0	4	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr7:156963014G>T	ENST00000348165.5	+	4	572	c.212G>T	c.(211-213)aGt>aTt	p.S71I	UBE3C_ENST00000389103.4_Missense_Mutation_p.S28I	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	71	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATCCAAAGAAGTGCATTTGAT	0.403																																																	0													147	146	146					7																	156963014		2203	4300	6503	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.212G>T	7.37:g.156963014G>T	ENSP00000309198:p.Ser71Ile		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.S71I	ENST00000348165.5	37	c.212	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180816	0.57800	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.45668	0.89	4.82	4.82	0.62117	.	0.102459	0.64402	D	0.000003	T	0.37489	0.1005	L	0.47716	1.5	0.51767	D	0.999931	B;B;P	0.35348	0.003;0.077;0.496	B;B;B	0.30401	0.002;0.033;0.115	T	0.24835	-1.0149	10	0.36615	T	0.2	.	17.917	0.88954	0.0:0.0:1.0:0.0	.	71;71;28	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	I	71;28	ENSP00000309198:S71I	ENSP00000309198:S71I	S	+	2	0	UBE3C	156655775	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.407000	0.52644	2.219000	0.72066	0.650000	0.86243	AGT	UBE3C	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000009335		0.403	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1		0	32	0	G	NM_014671		156963014	1			no_errors	ENST00000348165	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	156963014	G	T	156963014	3	4	17	1	0	0	0	0	1	0	0	0	16930	1029	36	3	226	3	UBE3C	7	156963014	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	5103234	156963014	2175649	118	4904											
CSMD1	64478	genome.wustl.edu	37	chr8	3889611	3889611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggatttccacaagtgtgGctaggtaaaactattggaaa	14	10	10	7	0	0	0	0	0	0	0	1	2	1	2	2	4	1	2	2	4	6	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr8:3889611G>T	ENST00000520002.1	-	4	981	c.426C>A	c.(424-426)agC>agA	p.S142R	CSMD1_ENST00000537824.1_Missense_Mutation_p.S142R|CSMD1_ENST00000400186.3_Missense_Mutation_p.S142R|CSMD1_ENST00000542608.1_Missense_Mutation_p.S142R|CSMD1_ENST00000539096.1_Missense_Mutation_p.S142R|CSMD1_ENST00000602723.1_Missense_Mutation_p.S142R|CSMD1_ENST00000602557.1_Missense_Mutation_p.S142R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	142						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACAAGTGTGGCTAGGTAAAA	0.388																																																	0													68	69	69					8																	3889611		1914	4130	6044	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.426C>A	8.37:g.3889611G>T	ENSP00000430733:p.Ser142Arg		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S142R	ENST00000520002.1	37	c.426		8	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413741	0.25465	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.26660	1.72;1.83;1.86;1.72;2.2	5.52	0.596	0.17496	.	0.000000	0.56097	U	0.000030	T	0.30008	0.0751	L	0.45137	1.4	0.35242	D	0.777915	D	0.67145	0.996	P	0.56216	0.794	T	0.29088	-1.0023	10	0.33940	T	0.23	.	9.7239	0.40320	0.5622:0.0:0.4378:0.0	.	142	E5RIG2	.	R	142;142;4;142;142;142	ENSP00000383047:S142R;ENSP00000430733:S142R;ENSP00000441462:S142R;ENSP00000446243:S142R;ENSP00000441675:S142R	ENSP00000320445:S4R	S	-	3	2	CSMD1	3877019	0.991000	0.36638	0.991000	0.47740	0.501000	0.33797	0.327000	0.19663	0.046000	0.15833	-0.794000	0.03295	AGC	CSMD1	-	NULL	ENSG00000183117		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	21	0	G	NM_033225		3889611	-1			no_errors	ENST00000520002	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.979	T	T	3889611	G	T	3889611	3	4	17	1	0	0	0	0	1	0	0	0	3953	1194	42	3	10349	3	CSMD1	8	3889611	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		3889611	142474411	119	4905											
MYBL1	4603	genome.wustl.edu	37	chr8	67485683	67485683	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccacaaataggggttGatgtaaatgaaggattttct	12	13	10	6	0	2	2	0	2	2	0	2	3	2	3	1	3	1	2	1	3	5	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr8:67485683G>T	ENST00000522677.3	-	11	1939	c.1529C>A	c.(1528-1530)tCa>tAa	p.S510*	MYBL1_ENST00000524176.2_Nonsense_Mutation_p.S510*|MYBL1_ENST00000517885.1_Nonsense_Mutation_p.S168*	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	510	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AATAGGGGTTGATGTAAATGA	0.353																																																	0													141	132	135					8																	67485683		1819	4089	5908	SO:0001587	stop_gained	0			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1529C>A	8.37:g.67485683G>T	ENSP00000429633:p.Ser510*		E7EW29|Q495F9	Nonsense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S510*	ENST00000522677.3	37	c.1529	CCDS47867.1	8	.	.	.	.	.	.	.	.	.	.	G	41	8.845519	0.98976	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1166	19.6002	0.95559	0.0:0.0:1.0:0.0	.	.	.	.	X	510;168;510	.	ENSP00000428265:S168X	S	-	2	0	MYBL1	67648237	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.611000	0.90905	2.691000	0.91804	0.655000	0.94253	TCA	MYBL1	-	pfam_C-myb_C	ENSG00000185697		0.353	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	HGNC	protein_coding	OTTHUMT00000379221.3	-	0	61	0	G	XM_034274		67485683	-1	tier1	-	no_errors	ENST00000522677	ensembl	human	known	74_37	nonsense	5.43	87	5	SNP	1.000	T	T	67485683	G	T	67485683	4	4	17	1	0	0	0	0	0	1	0	0	10047	1294	45	3	753	3	MYBL1	8	67485683	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	63596072	67485683	78878339	120	4906											
C8orf34	116328	genome.wustl.edu	37	chr8	69434053	69434053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaacagtgacatttaattCttctcttctgaggccccgtg	9	13	9	10	1	3	2	0	2	3	0	4	3	3	3	2	2	1	0	2	2	2	5	rs150489120		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr8:69434053C>T	ENST00000539993.1	+	6	1076	c.527C>T	c.(526-528)tCt>tTt	p.S176F	C8orf34_ENST00000518698.1_Missense_Mutation_p.S262F|C8orf34_ENST00000348340.2_Missense_Mutation_p.S176F|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000337103.4_Missense_Mutation_p.S151F			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	176										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ACATTTAATTCTTCTCTTCTG	0.403																																																	0								C	PHE/SER,PHE/SER	0,4406		0,0,2203	72	72	72		785,785	4.6	1	8	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C8orf34	NM_001195639.1,NM_052958.2	155,155	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	262/374,262/539	69434053	1,13005	2203	4300	6503	SO:0001583	missense	0			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"vestibule 1"						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.527C>T	8.37:g.69434053C>T	ENSP00000438159:p.Ser176Phe		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.S262F	ENST00000539993.1	37	c.785		8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044862	0.75732	0.0	1.16E-4	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.50813	0.73;0.76;0.74	5.45	4.55	0.56014	.	0.211483	0.33854	N	0.004495	T	0.59115	0.2170	L	0.51422	1.61	0.39616	D	0.969952	D;P	0.59767	0.986;0.874	P;P	0.59487	0.858;0.735	T	0.60910	-0.7169	9	.	.	.	-5.7046	16.405	0.83656	0.0:0.8682:0.1318:0.0	.	176;176	Q49A92;Q49A92-3	CH034_HUMAN;.	F	262;176;176;151	ENSP00000427820:S262F;ENSP00000438159:S176F;ENSP00000337174:S151F	.	S	+	2	0	C8orf34	69596607	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.524000	0.60552	1.369000	0.46134	0.655000	0.94253	TCT	C8orf34	-	NULL	ENSG00000165084		0.403	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	HGNC	protein_coding		-	0	37	0	C	NM_052958		69434053	1	tier1	rs150489120	no_errors	ENST00000518698	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T	T	69434053	C	T	69434053	3	4	17	1	0	0	0	0	1	0	0	0	2429	913	32	3	470	3	C8orf34	8	69434053	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1948370	69434053	76929969	121	4907											
HAS2	3037	genome.wustl.edu	37	chr8	122626975	122626975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtttagccatctgaGatattctataggtgtttcag	8	16	10	7	0	3	1	1	1	2	1	3	2	3	1	1	2	2	3	1	2	4	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr8:122626975G>T	ENST00000303924.4	-	4	1570	c.1033C>A	c.(1033-1035)Ctc>Atc	p.L345I		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	345					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGCCATCTGAGATATTCTATA	0.473																																																	0													142	129	134					8																	122626975		2203	4300	6503	SO:0001583	missense	0			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1033C>A	8.37:g.122626975G>T	ENSP00000306991:p.Leu345Ile		Q32MM3	Missense_Mutation	SNP	pfam_Chitin_synth_fng	p.L345I	ENST00000303924.4	37	c.1033	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591540	0.66219	.	.	ENSG00000170961	ENST00000303924	T	0.59364	0.27	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.76002	2.32	0.80722	D	1	D	0.65815	0.995	D	0.70227	0.968	T	0.70350	-0.4896	10	0.27785	T	0.31	-14.7402	20.5385	0.99246	0.0:0.0:1.0:0.0	.	345	Q92819	HAS2_HUMAN	I	345	ENSP00000306991:L345I	ENSP00000306991:L345I	L	-	1	0	HAS2	122696156	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.617000	0.83032	2.863000	0.98299	0.549000	0.68633	CTC	HAS2	-	pfam_Chitin_synth_fng	ENSG00000170961		0.473	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	-	0	67	0	G	NM_005328		122626975	-1	tier1	-	no_errors	ENST00000303924	ensembl	human	known	74_37	missense	5.80	130	8	SNP	1.000	T	T	122626975	G	T	122626975	3	4	17	1	0	0	0	0	1	0	0	0	6989	942	33	3	629	3	HAS2	8	122626975	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	53192922	122626975	23737047	122	4908											
TMEM71	137835	genome.wustl.edu	37	chr8	133759306	133759306	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccaagatttggaggtactGaggttgaagagagaagaaaa	17	7	14	3	0	0	6	0	2	0	4	0	8	0	7	1	3	2	2	1	3	6	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr8:133759306G>C	ENST00000377901.4	-	5	511	c.369C>G	c.(367-369)ctC>ctG	p.L123L	TMEM71_ENST00000523829.1_Silent_p.L123L|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000356838.3_Intron	NM_001145153.1	NP_001138625.1	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	123						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGGAGGTACTGAGGTTGAAGA	0.413																																																	0													92	83	86					8																	133759306		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000377901.4:c.369C>G	8.37:g.133759306G>C			Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	NULL	p.L123	ENST00000377901.4	37	c.369	CCDS47921.1	8																																																																																			TMEM71	-	NULL	ENSG00000165071		0.413	TMEM71-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM71	HGNC	protein_coding	OTTHUMT00000379592.1	-	0	67	0	G	NM_144649		133759306	-1	tier1	-	no_errors	ENST00000377901	ensembl	human	known	74_37	silent	10.34	78	9	SNP	0.004	C	C	133759306	G	C	133759306	2	2	17	1	0	0	0	0	0	0	0	1	16247	1277	45	5		5	TMEM71	8	133759306	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11132331	133759306	12604716	123	4909											
PLEC	5339	genome.wustl.edu	37	chr8	144996792	144996792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactctgctgtcgctggatCtccagtgtctgcaccagggt	5	12	11	13	1	4	0	1	0	3	0	6	1	4	1	2	2	2	3	2	2	0	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr8:144996792C>T	ENST00000322810.4	-	31	7885	c.7716G>A	c.(7714-7716)gaG>gaA	p.E2572E	PLEC_ENST00000436759.2_Silent_p.E2462E|PLEC_ENST00000354589.3_Silent_p.E2435E|PLEC_ENST00000356346.3_Silent_p.E2421E|PLEC_ENST00000345136.3_Silent_p.E2435E|PLEC_ENST00000357649.2_Silent_p.E2439E|PLEC_ENST00000354958.2_Silent_p.E2413E|PLEC_ENST00000398774.2_Silent_p.E2403E|PLEC_ENST00000527096.1_Silent_p.E2458E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2572	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCGCTGGATCTCCAGTGTCT	0.642																																																	0													45	48	47					8																	144996792		2175	4279	6454	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7716G>A	8.37:g.144996792C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2572	ENST00000322810.4	37	c.7716	CCDS43772.1	8																																																																																			PLEC	-	NULL	ENSG00000178209		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	21	0	C	NM_000445		144996792	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	20.31	51	13	SNP	1.000	T	T	144996792	C	T	144996792	2	4	17	1	0	0	0	0	0	0	0	1	12091	912	32	3		3	PLEC	8	144996792	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	11237486	144996792	1367230	124	4910											
CDC37L1	55664	genome.wustl.edu	37	chr9	4697838	4697838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggccaaaaactgtaatgtgGatccaagagggtgttttcgt	11	12	12	6	1	0	1	0	0	0	1	2	2	1	2	2	3	1	2	2	3	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:4697838G>C	ENST00000381854.3	+	5	908	c.706G>C	c.(706-708)Gat>Cat	p.D236H	CDC37L1_ENST00000381858.1_Missense_Mutation_p.D236H	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	236	Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CTGTAATGTGGATCCAAGAGG	0.353																																																	0													95	99	98					9																	4697838		2203	4300	6503	SO:0001583	missense	0			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1", "cell division cycle 37 homolog (S. cerevisiae)-like 1"				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.706G>C	9.37:g.4697838G>C	ENSP00000371278:p.Asp236His		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	pfam_Cdc37_Hsp90-bd	p.D236H	ENST00000381854.3	37	c.706	CCDS6454.1	9	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561323	0.86335	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.50813	0.73;0.73	5.31	5.31	0.75309	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74266	-0.3721	10	0.42905	T	0.14	-16.1596	19.3311	0.94288	0.0:0.0:1.0:0.0	.	236	Q7L3B6	CD37L_HUMAN	H	236	ENSP00000371282:D236H;ENSP00000371278:D236H	ENSP00000371278:D236H	D	+	1	0	CDC37L1	4687838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.348000	0.97062	2.642000	0.89623	0.655000	0.94253	GAT	CDC37L1	-	pfam_Cdc37_Hsp90-bd	ENSG00000106993		0.353	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37L1	HGNC	protein_coding	OTTHUMT00000051564.1	-	0	70	0	G	NM_017913		4697838	1	tier1	-	no_errors	ENST00000381854	ensembl	human	known	74_37	missense	12.75	88	13	SNP	1.000	C	C	4697838	G	C	4697838	3	2	17	1	0	0	0	0	1	0	0	0	3076	1174	41	5	724	5	CDC37L1	9	4697838	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		4697838	136515593	125	4911											
RUSC2	9853	genome.wustl.edu	37	chr9	35547582	35547582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatggttgccctcatgcctCttctcctgagcttgatgcca	5	14	8	14	0	3	2	1	2	2	0	4	2	3	2	4	1	4	2	4	1	1	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:35547582C>T	ENST00000455600.1	+	2	1633	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	355						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCATGCCTCTTCTCCTGAG	0.577																																																	0													113	95	101					9																	35547582		2203	4300	6503	SO:0001583	missense	0			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1064C>T	9.37:g.35547582C>T	ENSP00000393922:p.Ser355Phe		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.S355F	ENST00000455600.1	37	c.1064	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849882	0.71603	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.31510	1.49;1.49	5.67	5.67	0.87782	.	0.151836	0.47093	D	0.000246	T	0.46054	0.1373	L	0.32530	0.975	0.54753	D	0.999982	D	0.71674	0.998	D	0.65573	0.936	T	0.40701	-0.9549	10	0.87932	D	0	-11.2096	18.7684	0.91881	0.0:1.0:0.0:0.0	.	355	Q8N2Y8	RUSC2_HUMAN	F	355	ENSP00000355177:S355F;ENSP00000393922:S355F	ENSP00000355177:S355F	S	+	2	0	RUSC2	35537582	1.000000	0.71417	0.977000	0.42913	0.938000	0.57974	7.136000	0.77285	2.675000	0.91044	0.655000	0.94253	TCT	RUSC2	-	NULL	ENSG00000198853		0.577	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	-	0	24	0	C	XM_048462		35547582	1	tier1	-	no_errors	ENST00000361226	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	T	T	35547582	C	T	35547582	3	4	17	1	0	0	0	0	1	0	0	0	13796	913	32	3	1066	3	RUSC2	9	35547582	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	30849744	35547582	105665849	126	4912											
RECK	8434	genome.wustl.edu	37	chr9	36112352	36112352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtatgtgggcagaatGggcgcacttaccccagtgcc	7	9	12	13	1	0	1	0	0	0	1	1	1	1	1	4	2	2	3	4	2	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:36112352G>A	ENST00000377966.3	+	16	2505	c.1939G>A	c.(1939-1941)Ggg>Agg	p.G647R		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	647	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGGGCAGAATGGGCGCACTTA	0.493																																																	0													149	117	128					9																	36112352		2203	4300	6503	SO:0001583	missense	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1939G>A	9.37:g.36112352G>A	ENSP00000367202:p.Gly647Arg		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.G647R	ENST00000377966.3	37	c.1939	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.106747	0.94292	.	.	ENSG00000122707	ENST00000377966	T	0.12255	2.7	5.71	5.71	0.89125	Proteinase inhibitor I1, Kazal (2);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59768	-0.7392	10	0.87932	D	0	-14.5155	17.3431	0.87303	0.0:0.0:1.0:0.0	.	647;647	A8K9D8;O95980	.;RECK_HUMAN	R	647	ENSP00000367202:G647R	ENSP00000367202:G647R	G	+	1	0	RECK	36102352	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.502000	0.97981	2.701000	0.92244	0.563000	0.77884	GGG	RECK	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000122707		0.493	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	-	0	65	0	G			36112352	1	tier1	-	no_errors	ENST00000377966	ensembl	human	known	74_37	missense	27.91	62	24	SNP	1.000	A	A	36112352	G	A	36112352	3	1	17	1	0	0	0	0	1	0	0	0	13245	1348	47	3	2001	3	RECK	9	36112352	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	564770	36112352	105101079	127	4913											
CCIN	881	genome.wustl.edu	37	chr9	36169685	36169685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctccagcaatgacatGaagaccgctgatgagctttt	11	11	8	11	1	2	5	1	4	1	1	3	5	2	5	2	0	2	3	2	0	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:36169685G>T	ENST00000335119.2	+	1	297	c.186G>T	c.(184-186)atG>atT	p.M62I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	62	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCAATGACATGAAGACCGCTG	0.537																																																	0													111	104	106					9																	36169685		2203	4300	6503	SO:0001583	missense	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.186G>T	9.37:g.36169685G>T	ENSP00000334996:p.Met62Ile		Q9BXG7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.M62I	ENST00000335119.2	37	c.186	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	G	8.478	0.859187	0.17178	.	.	ENSG00000185972	ENST00000335119	T	0.71341	-0.56	5.69	5.69	0.88448	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.165412	0.42682	D	0.000665	T	0.70710	0.3255	M	0.80616	2.505	0.36571	D	0.873008	B	0.06786	0.001	B	0.14023	0.01	T	0.69273	-0.5188	10	0.13470	T	0.59	.	15.3016	0.73955	0.0:0.0:1.0:0.0	.	62	Q13939	CALI_HUMAN	I	62	ENSP00000334996:M62I	ENSP00000334996:M62I	M	+	3	0	CCIN	36159685	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.843000	0.48238	2.690000	0.91761	0.561000	0.74099	ATG	CCIN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000185972		0.537	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	-	0	24	0	G	NM_005893		36169685	1	tier1	-	no_errors	ENST00000335119	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	T	T	36169685	G	T	36169685	3	4	17	1	0	0	0	0	1	0	0	0	2885	1290	45	3	188	3	CCIN	9	36169685	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	57333	36169685	105043746	128	4914											
MCART1	92014	genome.wustl.edu	37	chr9	37888332	37888332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcgaaatccatcccttctCaactgaagtattgcatcccg	10	13	5	13	2	1	1	1	1	1	0	6	2	4	1	3	0	2	2	3	0	4	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:37888332C>T	ENST00000377716.2	-	3	959	c.216G>A	c.(214-216)ttG>ttA	p.L72L	SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Silent_p.L72L|SLC25A51_ENST00000242275.6_Silent_p.L72L			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	72					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CATCCCTTCTCAACTGAAGTA	0.438																																																	0													113	101	105					9																	37888332		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.216G>A	9.37:g.37888332C>T				Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L72	ENST00000377716.2	37	c.216	CCDS6614.1	9																																																																																			SLC25A51	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000122696		0.438	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A51	HGNC	protein_coding	OTTHUMT00000313746.1	-	0	68	0	C	NM_033412		37888332	-1	tier1	-	no_errors	ENST00000242275	ensembl	human	known	74_37	silent	29.09	78	32	SNP	0.995	T	T	37888332	C	T	37888332	2	4	17	1	0	0	0	0	0	0	0	1	9407	825	29	3		3	MCART1	9	37888332	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1718647	37888332	103325099	129	4915											
IPPK	64768	genome.wustl.edu	37	chr9	95414874	95414874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggtctttcagattgtatCtttaaacaaagctgtttcac	10	16	6	9	0	4	1	2	0	2	1	4	1	4	1	1	1	2	3	1	1	4	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:95414874C>G	ENST00000287996.3	-	4	549	c.273G>C	c.(271-273)aaG>aaC	p.K91N		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	91					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						CAGATTGTATCTTTAAACAAA	0.323																																																	0													96	95	95					9																	95414874		2203	4300	6503	SO:0001583	missense	0			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 12"	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.273G>C	9.37:g.95414874C>G	ENSP00000287996:p.Lys91Asn		Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.K91N	ENST00000287996.3	37	c.273	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604722	0.46423	.	.	ENSG00000127080	ENST00000287996	T	0.33216	1.42	4.65	3.74	0.42951	.	0.050628	0.85682	D	0.000000	T	0.26195	0.0639	L	0.27053	0.805	0.80722	D	1	P	0.47604	0.898	P	0.48089	0.566	T	0.01757	-1.1280	10	0.18710	T	0.47	-9.4787	11.8585	0.52453	0.0:0.9109:0.0:0.0891	.	91	Q9H8X2	IPPK_HUMAN	N	91	ENSP00000287996:K91N	ENSP00000287996:K91N	K	-	3	2	IPPK	94454695	1.000000	0.71417	0.995000	0.50966	0.789000	0.44602	1.197000	0.32211	1.078000	0.41014	0.195000	0.17529	AAG	IPPK	-	pfam_Ins_P5_2-kin	ENSG00000127080		0.323	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1		0	53	0	C	NM_022755		95414874	-1			no_errors	ENST00000287996	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	G	G	95414874	C	G	95414874	3	3	17	1	0	0	0	0	1	0	0	0	7828	912	32	5	1242	5	IPPK	9	95414874	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	57526542	95414874	45798557	130	4916											
STX17	55014	genome.wustl.edu	37	chr9	102713413	102713413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggatgacctagtacttctGaagagaatgatagatcctgt	14	11	10	6	0	1	5	0	3	1	2	2	7	2	6	2	1	1	1	2	1	6	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:102713413G>A	ENST00000259400.6	+	4	397	c.261G>A	c.(259-261)ctG>ctA	p.L87L	STX17_ENST00000525847.1_3'UTR|STX17_ENST00000534052.1_Silent_p.L87L|STX17_ENST00000525640.1_Silent_p.L87L	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	87					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TAGTACTTCTGAAGAGAATGA	0.358																																																	0													89	88	89					9																	102713413		2203	4299	6502	SO:0001819	synonymous_variant	0			AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.261G>A	9.37:g.102713413G>A			Q4VXC2	Silent	SNP	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L87	ENST00000259400.6	37	c.261	CCDS6745.1	9																																																																																			STX17	-	superfamily_t-SNARE	ENSG00000136874		0.358	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	STX17	HGNC	protein_coding	OTTHUMT00000053398.3	-	0	39	0	G	NM_017919		102713413	1	tier1	-	no_errors	ENST00000259400	ensembl	human	known	74_37	silent	19.18	59	14	SNP	1.000	A	A	102713413	G	A	102713413	2	1	17	1	0	0	0	0	0	0	0	1	15387	1277	45	3		3	STX17	9	102713413	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	7298539	102713413	38500018	131	4917											
NOTCH1	4851	genome.wustl.edu	37	chr9	139404376	139404377	+	Frame_Shift_Ins	INS	-	-	A																															agtcgcagaaggccgtgttgINSatgccgtctgtgcaggagcc																										TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr9:139404376_139404377insA	ENST00000277541.6	-	18	2852_2853	c.2777_2778insT	c.(2776-2778)atcfs	p.I926fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	926	EGF-like 24. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCCGTGTTGATGCCGTCTGT	0.658			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0																																										SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2778dupT	9.37:g.139404377_139404377dupA	ENSP00000277541:p.Ile926fs		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.N927fs	ENST00000277541.6	37	c.2778_2777	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.658	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	58	0	-	NM_017617		139404377	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_ins	23.19	53	16	INS	0.907:0.900	A	A	139404377	-	A	139404376	7	5	17	1	0	1	1	0	0	0	0	0	10586	1280	45	0	4957	0	NOTCH1	9	139404376	Frame_Shift_Ins	INS	-	TCGA-IG-A3Y9-01A-12D-A247-09	36690963	139404376	1809055	132	4918											
C10orf18	54906	genome.wustl.edu	37	chr10	5784127	5784127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttcatatgtgggtagctCtgttttacagcaatcagaac	11	14	8	8	0	3	1	2	0	1	1	3	1	3	1	0	1	5	4	0	1	6	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:5784127C>G	ENST00000328090.5	+	14	3020	c.2395C>G	c.(2395-2397)Ctg>Gtg	p.L799V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	799																	GTGGGTAGCTCTGTTTTACAG	0.378																																																	0													133	121	124					10																	5784127		1856	4097	5953	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2395C>G	10.37:g.5784127C>G	ENSP00000328426:p.Leu799Val		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.L799V	ENST00000328090.5	37	c.2395	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464769	0.84425	.	.	ENSG00000108021	ENST00000328090	T	0.19394	2.15	5.57	5.57	0.84162	.	0.000000	0.47852	D	0.000212	T	0.50069	0.1594	M	0.77616	2.38	0.38970	D	0.958735	D	0.89917	1.0	D	0.87578	0.998	T	0.49254	-0.8959	10	0.41790	T	0.15	.	19.1459	0.93467	0.0:1.0:0.0:0.0	.	799	Q5VWN6	F208B_HUMAN	V	799	ENSP00000328426:L799V	ENSP00000328426:L799V	L	+	1	2	C10orf18	5824133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.714000	0.47202	2.607000	0.88179	0.655000	0.94253	CTG	FAM208B	-	NULL	ENSG00000108021		0.378	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	-	0	41	0	C	NM_017782		5784127	1	tier1	-	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	G	G	5784127	C	G	5784127	3	3	17	1	0	0	0	0	1	0	0	0	1601	912	32	5	2437	5	C10orf18	10	5784127	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		5784127	129750620	133	4919											
DHTKD1	55526	genome.wustl.edu	37	chr10	12126748	12126748	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaaactaatgctggaatctCaggtaaaaaggagcatctag	16	8	10	7	1	2	0	1	0	2	0	3	3	2	2	0	3	3	3	0	3	7	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:12126748C>G	ENST00000263035.4	+	3	582	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	174					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GCTGGAATCTCAGGTAAAAAG	0.527																																																	0													89	92	91					10																	12126748		2203	4300	6503	SO:0001583	missense	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.520C>G	10.37:g.12126748C>G	ENSP00000263035:p.Gln174Glu		Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.Q174E	ENST00000263035.4	37	c.520	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	8.981	0.975250	0.18736	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	T;T	0.13307	2.67;2.6	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.08223	0.0205	N	0.11427	0.14	0.80722	D	1	B	0.30146	0.27	B	0.31101	0.124	T	0.08576	-1.0715	10	0.02654	T	1	-13.5526	19.5499	0.95312	0.0:1.0:0.0:0.0	.	174	Q96HY7	DHTK1_HUMAN	E	174	ENSP00000263035:Q174E;ENSP00000388163:Q174E	ENSP00000263035:Q174E	Q	+	1	0	DHTKD1	12166754	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.387000	0.79785	2.692000	0.91855	0.609000	0.83330	CAG	DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000181192		0.527	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	-	0	38	0	C	NM_018706		12126748	1	tier1	-	no_errors	ENST00000263035	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	G	G	12126748	C	G	12126748	3	3	17	1	0	0	0	0	1	0	0	0	4514	827	29	5	530	5	DHTKD1	10	12126748	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	6342621	12126748	123407999	134	4920											
ITGA8	8516	genome.wustl.edu	37	chr10	15688954	15688954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgaagaggagagagctCacttgcaaatacaggtagat	14	9	11	7	0	2	4	1	1	1	3	3	6	2	5	0	2	3	3	0	2	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:15688954C>T	ENST00000378076.3	-	12	1451	c.1098G>A	c.(1096-1098)gtG>gtA	p.V366V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	366					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGAGAGAGCTCACTTGCAAAT	0.507																																																	0													133	117	122					10																	15688954		2203	4300	6503	SO:0001819	synonymous_variant	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1098G>A	10.37:g.15688954C>T			B0YJ31|Q5VX94	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V366	ENST00000378076.3	37	c.1098	CCDS31155.1	10																																																																																			ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.507	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	61	0	C	NM_003638		15688954	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	silent	13.79	75	12	SNP	0.001	T	T	15688954	C	T	15688954	2	4	17	1	0	0	0	0	0	0	0	1	7909	813	29	3		3	ITGA8	10	15688954	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3562206	15688954	119845793	135	4921											
ZNF438	220929	genome.wustl.edu	37	chr10	31138696	31138696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagcaggagggttcagaCtgccatgggtgttggtcact	7	10	17	7	0	2	1	2	0	0	1	2	2	2	2	1	5	2	4	1	5	1	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:31138696C>G	ENST00000361310.3	-	6	967	c.638G>C	c.(637-639)aGt>aCt	p.S213T	ZNF438_ENST00000413025.1_Missense_Mutation_p.S213T|ZNF438_ENST00000436087.2_Missense_Mutation_p.S213T|ZNF438_ENST00000452305.1_Missense_Mutation_p.S203T|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000538351.2_Missense_Mutation_p.S164T|ZNF438_ENST00000444692.2_Missense_Mutation_p.S203T|ZNF438_ENST00000442986.1_Missense_Mutation_p.S213T|ZNF438_ENST00000331737.6_Missense_Mutation_p.S203T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	213					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AGGGTTCAGACTGCCATGGGT	0.552																																																	0													132	120	124					10																	31138696		2203	4300	6503	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.638G>C	10.37:g.31138696C>G	ENSP00000354663:p.Ser213Thr		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S213T	ENST00000361310.3	37	c.638	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	C	1.832	-0.469580	0.04445	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.09538	2.97;2.98;2.98;2.98;2.98;2.97;2.97;2.99	5.01	-5.09	0.02920	.	1.869190	0.01912	N	0.039917	T	0.04634	0.0126	N	0.14661	0.345	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.06405	0.0;0.002	T	0.34030	-0.9845	10	0.05436	T	0.98	-0.9454	4.45	0.11616	0.1005:0.4109:0.3134:0.1751	.	213;203	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	203;213;213;213;213;203;203;164	ENSP00000333571:S203T;ENSP00000354663:S213T;ENSP00000406934:S213T;ENSP00000412363:S213T;ENSP00000387546:S213T;ENSP00000413060:S203T;ENSP00000410898:S203T;ENSP00000445461:S164T	ENSP00000333571:S203T	S	-	2	0	ZNF438	31178702	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.383000	0.07398	-0.522000	0.06417	-1.004000	0.02495	AGT	ZNF438	-	NULL	ENSG00000183621		0.552	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	-	0	85	0	C	NM_182755		31138696	-1	tier1	-	no_errors	ENST00000361310	ensembl	human	known	74_37	missense	8.33	88	8	SNP	0.000	G	G	31138696	C	G	31138696	3	3	17	1	0	0	0	0	1	0	0	0	17958	565	20	5	1856	5	ZNF438	10	31138696	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	15449742	31138696	104396051	136	4922											
CDH23	414152	genome.wustl.edu	37	chr10	73499506	73499506	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggcccctggacagagaaGagctggatcactacatcctc	11	6	10	14	0	1	2	1	0	0	2	3	5	2	4	4	3	2	1	4	3	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:73499506G>C	ENST00000398786.2	-	0	0				CDH23_ENST00000224721.6_Missense_Mutation_p.E1494Q	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											GGACAGAGAAGAGCTGGATCA	0.592																																																	0													33	36	35					10																	73499506		1943	4128	6071	SO:0001631	upstream_gene_variant	0			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73499506G>C	Exception_encountered			Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1494Q	ENST00000398786.2	37	c.4480	CCDS44430.1	10	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136398	0.37728	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	5.67	3.8	0.43715	Cadherin (4);Cadherin-like (1);	0.627868	0.16125	N	0.228444	T	0.46151	0.1378	L	0.31752	0.955	0.80722	D	1	B;B	0.33318	0.06;0.408	B;B	0.39771	0.048;0.309	T	0.19095	-1.0316	9	0.13853	T	0.58	.	10.2273	0.43233	0.0752:0.3243:0.6004:0.0	.	309;1489	E7ERT0;Q9H251	.;CAD23_HUMAN	Q	1494;1489;1492;309	.	ENSP00000224721:E1494Q	E	+	1	0	CDH23	73169512	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.296000	0.43584	1.388000	0.46506	0.655000	0.94253	GAG	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.592	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	-	0	44	0	G	NM_001164375		73499506	1	tier1	-	no_errors	ENST00000224721	ensembl	human	putative	74_37	missense	14.29	54	9	SNP	0.990	C	C	73499506	G	C	73499506	1	2	17	0	1	0	0	0	0	0	0	0	3115	943	33	5		5	CDH23	10	73499506	5'Flank	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	42360810	73499506	62035241	137	4923											
POLR3A	11128	genome.wustl.edu	37	chr10	79784318	79784318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggctcacctgtgcccttcCcagcagaggctccacttctt	6	10	8	17	0	2	1	1	0	1	1	4	1	4	1	4	2	2	3	4	2	0	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:79784318C>T	ENST00000372371.3	-	5	771	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	212					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGTGCCCTTCCCAGCAGAGGC	0.522																																																	0													105	96	99					10																	79784318		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.634G>A	10.37:g.79784318C>T	ENSP00000361446:p.Gly212Arg		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.G212R	ENST00000372371.3	37	c.634	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694763	0.30052	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.20738	2.05	5.52	4.62	0.57501	RNA polymerase Rpb1, domain 1 (1);	1.413740	0.04151	N	0.321344	T	0.23014	0.0556	L	0.37561	1.115	0.44366	D	0.997269	B	0.02656	0.0	B	0.12156	0.007	T	0.03473	-1.1033	9	.	.	.	-12.0865	14.2508	0.66019	0.0:0.9285:0.0:0.0715	.	212	O14802	RPC1_HUMAN	R	212	ENSP00000361446:G212R	.	G	-	1	0	POLR3A	79454324	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	2.681000	0.46926	1.334000	0.45468	0.555000	0.69702	GGA	POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.522	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0	37	0	C	NM_007055		79784318	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T	T	79784318	C	T	79784318	3	4	17	1	0	0	0	0	1	0	0	0	12267	632	22	3	3646	3	POLR3A	10	79784318	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	6284812	79784318	55750429	138	4924											
ZNF518A	9849	genome.wustl.edu	37	chr10	97918367	97918367	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgattcacctatgatgcctaGaatcacatctgttttctctc	9	15	5	12	1	4	2	2	1	2	1	6	3	4	2	2	0	1	1	2	0	3	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:97918367G>C	ENST00000534948.1	+	0	3145							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATGATGCCTAGAATCACATCT	0.373																																																	0													37	37	37					10																	97918367		1849	4093	5942			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97918367G>C			A0PJI5|O15044|Q32MP4	RNA	SNP	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.373	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript		-	0	19	0	G	NM_014803		97918367	1	tier1	-	no_errors	ENST00000316045	ensembl	human	known	74_37	rna	17.39	38	8	SNP	1.000	C	C	97918367	G	C	97918367	1	2	17	0	1	0	0	0	0	0	0	0	18010	942	33	5		5	ZNF518A	10	97918367	RNA	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	18134049	97918367	37616380	139	4925											
SEMA4G	57715	genome.wustl.edu	37	chr10	102739898	102739898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtatcacagattcattgcGcagccaaggctacaattcat	12	11	8	10	1	3	1	3	0	0	1	3	1	3	1	1	1	3	3	1	1	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:102739898G>T	ENST00000370250.4	+	10	1521	c.1148G>T	c.(1147-1149)cGc>cTc	p.R383L	SEMA4G_ENST00000517724.1_Missense_Mutation_p.R383L|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R383L|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	383	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R383H(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GATTCATTGCGCAGCCAAGGC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											131	96	108					10																	102739898		2203	4300	6503	SO:0001583	missense	0			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1148G>T	10.37:g.102739898G>T	ENSP00000359270:p.Arg383Leu		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R383L	ENST00000370250.4	37	c.1148		10	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586314	0.86851	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.14	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.998	T	0.73232	-0.4048	10	0.87932	D	0	.	17.5741	0.87943	0.0:0.0:1.0:0.0	.	383;383;383	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	L	383	ENSP00000428896:R383L;ENSP00000359270:R383L;ENSP00000430175:R383L;ENSP00000210633:R383L	ENSP00000210633:R383L	R	+	2	0	SEMA4G	102729888	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.314000	0.96306	2.405000	0.81733	0.484000	0.47621	CGC	SEMA4G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000095539		0.582	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2		0	27	0	G			102739898	1			no_errors	ENST00000210633	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.995	T	T	102739898	G	T	102739898	3	4	17	1	0	0	0	0	1	0	0	0	14081	1087	38	2	1186	2	SEMA4G	10	102739898	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4821531	102739898	32794849	140	4926											
LZTS2	84445	genome.wustl.edu	37	chr10	102762382	102762382	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctccagtcatgggtagtgtGagcagccttatctcaggccg	7	10	13	11	1	2	1	2	1	1	0	4	1	3	1	3	2	2	3	3	2	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:102762382G>C	ENST00000370220.1	+	1	3150	c.87G>C	c.(85-87)gtG>gtC	p.V29V	LZTS2_ENST00000370223.3_Silent_p.V29V					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TGGGTAGTGTGAGCAGCCTTA	0.672																																					Esophageal Squamous(8;38 437 13604 19902 37640)												0													49	55	53					10																	102762382		2203	4299	6502	SO:0001819	synonymous_variant	0			AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.87G>C	10.37:g.102762382G>C				Silent	SNP	NULL	p.V29	ENST00000370220.1	37	c.87	CCDS7507.1	10																																																																																			LZTS2	-	NULL	ENSG00000107816		0.672	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LZTS2	HGNC	protein_coding	OTTHUMT00000049872.1	-	0	65	0	G	XM_046743		102762382	1	tier1	-	no_errors	ENST00000370220	ensembl	human	known	74_37	silent	22.50	61	18	SNP	1.000	C	C	102762382	G	C	102762382	2	2	17	1	0	0	0	0	0	0	0	1	9175	1277	45	5		5	LZTS2	10	102762382	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	22484	102762382	32772365	141	4927											
GPR26	2849	genome.wustl.edu	37	chr10	125447475	125447475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcttctccacggtgcccatCggctcccactggggggtgct	3	10	12	16	2	2	0	0	0	2	0	5	0	3	0	3	5	2	2	3	5	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr10:125447475C>G	ENST00000284674.1	+	3	866	c.813C>G	c.(811-813)atC>atG	p.I271M		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	271					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CGGTGCCCATCGGCTCCCACT	0.597																																																	0													63	59	60					10																	125447475		2203	4300	6503	SO:0001583	missense	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.813C>G	10.37:g.125447475C>G	ENSP00000284674:p.Ile271Met		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I271M	ENST00000284674.1	37	c.813	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223148	0.58668	.	.	ENSG00000154478	ENST00000284674	T	0.73363	-0.74	5.59	-0.146	0.13432	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83372	0.5240	M	0.83312	2.635	0.41898	D	0.990407	D	0.71674	0.998	D	0.71414	0.973	T	0.82307	-0.0522	10	0.72032	D	0.01	-24.8999	9.6137	0.39679	0.0:0.5519:0.0:0.4481	.	271	Q8NDV2	GPR26_HUMAN	M	271	ENSP00000284674:I271M	ENSP00000284674:I271M	I	+	3	3	GPR26	125437465	0.940000	0.31905	0.995000	0.50966	0.835000	0.47333	0.129000	0.15830	-0.082000	0.12640	-0.237000	0.12165	ATC	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM	ENSG00000154478		0.597	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	-	0	34	0	C			125447475	1	tier1	-	no_errors	ENST00000284674	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.991	G	G	125447475	C	G	125447475	3	3	17	1	0	0	0	0	1	0	0	0	6710	874	31	5	823	5	GPR26	10	125447475	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	22685093	125447475	10087272	142	4928											
TRIM22	10346	genome.wustl.edu	37	chr11	5717813	5717813	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggaaaagtcatttgctgGgtttgtgaactgtctcagga	10	13	13	5	0	2	1	2	1	1	0	3	4	2	3	0	3	2	2	0	3	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:5717813G>A	ENST00000379965.3	+	2	628	c.351G>A	c.(349-351)tgG>tgA	p.W117*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	117					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCATTTGCTGGGTTTGTGAAC	0.478																																					GBM(104;491 2336 5222)												0													71	77	75					11																	5717813		2091	4247	6338	SO:0001587	stop_gained	0			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.351G>A	11.37:g.5717813G>A	ENSP00000369299:p.Trp117*		Q05CQ0|Q15521	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.W117*	ENST00000379965.3	37	c.351	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870918	0.91587	.	.	ENSG00000132274	ENST00000379965;ENST00000425490;ENST00000454828;ENST00000414641	.	.	.	4.71	1.66	0.24008	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.347	0.11138	0.0897:0.1577:0.5899:0.1627	.	.	.	.	X	117	.	ENSP00000369299:W117X	W	+	3	0	TRIM22	5674389	0.044000	0.20184	0.076000	0.20297	0.655000	0.38815	0.042000	0.13949	0.492000	0.27815	-0.518000	0.04402	TGG	TRIM22	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000132274		0.478	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	HGNC	protein_coding	OTTHUMT00000143387.2	-	0	15	0	G	NM_006074		5717813	1	tier1	-	no_errors	ENST00000379965	ensembl	human	known	74_37	nonsense	21.05	15	4	SNP	0.320	A	A	5717813	G	A	5717813	4	1	17	1	0	0	0	0	0	1	0	0	16544	1241	43	3	353	3	TRIM22	11	5717813	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		5717813	129288703	143	4929											
CYB5R2	51700	genome.wustl.edu	37	chr11	7690913	7690913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagacaggggtgtaagcCctgaccaccaattcattatc	11	9	10	11	0	1	2	1	1	0	1	2	3	1	2	3	3	1	1	3	3	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:7690913C>T	ENST00000533558.1	-	4	757	c.201G>A	c.(199-201)agG>agA	p.R67R	CYB5R2_ENST00000528585.1_5'Flank|CYB5R2_ENST00000299498.6_Silent_p.R67R|CYB5R2_ENST00000299497.9_Silent_p.R67R|CYB5R2_ENST00000524790.1_Silent_p.R67R			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	67	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGGTGTAAGCCCTGACCACCA	0.428																																																	0													112	94	100					11																	7690913		2201	4296	6497	SO:0001819	synonymous_variant	0			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.201G>A	11.37:g.7690913C>T			Q9BVA3|Q9UF68|Q9UHJ0	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.R67	ENST00000533558.1	37	c.201	CCDS7780.1	11																																																																																			CYB5R2	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000166394		0.428	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	-	0	49	0	C	NM_016229		7690913	-1	tier1	-	no_errors	ENST00000299498	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.981	T	T	7690913	C	T	7690913	2	4	17	1	0	0	0	0	0	0	0	1	4136	622	22	3		3	CYB5R2	11	7690913	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1973100	7690913	127315603	144	4930											
ZNF143	7702	genome.wustl.edu	37	chr11	9522726	9522728	+	In_Frame_Del	DEL	AGG	AGG	-																															gtgcacgttaggacacacacAggagaaagaccttattactg																										TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:9522726_9522728delAGG	ENST00000396602.2	+	11	1175_1177	c.1056_1058delAGG	c.(1054-1059)acagga>aca	p.G353del	ZNF143_ENST00000299606.2_In_Frame_Del_p.G325del|ZNF143_ENST00000396604.1_In_Frame_Del_p.G352del|ZNF143_ENST00000396597.3_In_Frame_Del_p.G322del|ZNF143_ENST00000530463.1_In_Frame_Del_p.G352del	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	353					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GGACACACACAGGAGAAAGACCT	0.443																																																	0																																										SO:0001651	inframe_deletion	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.1056_1058delAGG	11.37:g.9522726_9522728delAGG	ENSP00000379847:p.Gly353del		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	In_Frame_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G353in_frame_del	ENST00000396602.2	37	c.1056_1058	CCDS7799.2	11																																																																																			ZNF143	-	pfscan_Znf_C2H2	ENSG00000166478		0.443	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2		0	34	0	AGG	NM_003442		9522728	1	tier1		no_errors	ENST00000396602	ensembl	human	known	74_37	in_frame_del	11.69	68	9	DEL	0.999:1.000:1.000	-	-	9522728	AGG	-	9522726	7	5	17	1	0	1	0	1	0	0	0	0	17780	175	7	0	1094	0	ZNF143	11	9522726	In_Frame_Del	DEL	AGG	TCGA-IG-A3Y9-01A-12D-A247-09	1831813	9522726	125483790	145	4931											
OR4C15	81309	genome.wustl.edu	37	chr11	55321806	55321807	+	Missense_Mutation	DNP	AC	AC	GA																															ttctcaatgacaacagaagcActcaataattttgcacttgg																										TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:55321806_55321807AC>GA	ENST00000314644.2	+	1	24_25	c.24_25AC>GA	c.(22-27)gcACtc>gcGAtc	p.L9I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CAACAGAAGCACTCAATAATTT	0.302										HNSCC(20;0.049)																																							0																																										SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	Exception_encountered	11.37:g.55321806_55321807delinsGA	ENSP00000324958:p.Leu9Ile		Q6IFE2	Silent|Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A8|p.L9I	ENST00000314644.2	37	c.24|c.25	CCDS31501.1	11																																																																																			OR4C15	-	NULL	ENSG00000181939		0.302	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	-	0	36|37	0	A|C	NM_001001920		55321806|55321807	1	tier1	-	no_errors	ENST00000314644	ensembl	human	known	74_37	silent|missense	13.04	60	9	SNP	0.001|0.000	G|A	GA	55321807	AC	GA	55321806	3	3	17	1	0	0	0	0	1	0	0	0	11087	146	6	4	26	4	OR4C15	11	55321806	Missense_Mutation	DNP	AC	TCGA-IG-A3Y9-01A-12D-A247-09	45799080	55321806	79684710	146	4932											
OR5AK2	390181	genome.wustl.edu	37	chr11	56756448	56756448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgggatttggtgcccaGcatgagttttggtgtatcct	5	16	12	8	0	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	1	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:56756448G>A	ENST00000326855.2	+	1	102	c.60G>A	c.(58-60)caG>caA	p.Q20Q		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q20H(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGGTGCCCAGCATGAGTTTT	0.408																																																	1	Substitution - Missense(1)	breast(1)											150	143	145					11																	56756448		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"GPCR / Class A : Olfactory receptors"	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.60G>A	11.37:g.56756448G>A			B2RNZ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q20	ENST00000326855.2	37	c.60	CCDS31538.1	11																																																																																			OR5AK2	-	NULL	ENSG00000181273		0.408	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	-	0	100	0	G	NM_001005323		56756448	1	tier1	-	no_errors	ENST00000326855	ensembl	human	known	74_37	silent	8.70	147	14	SNP	0.000	A	A	56756448	G	A	56756448	2	1	17	1	0	0	0	0	0	0	0	1	11181	962	34	3		3	OR5AK2	11	56756448	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1434642	56756448	78250068	147	4933											
MAP3K11	4296	genome.wustl.edu	37	chr11	65373507	65373507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttgagtcctccagacgtCggggggactggcggccccat	5	8	15	13	3	0	2	0	1	0	1	3	3	2	3	4	5	1	1	4	5	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:65373507C>T	ENST00000530153.1	-	7	1399	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R550Q|MAP3K11_ENST00000532507.1_5'UTR					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTCCAGACGTCGGGGGGACTG	0.607																																																	0													18	21	20					11																	65373507		2201	4296	6497	SO:0001583	missense	0				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.878G>A	11.37:g.65373507C>T	ENSP00000433886:p.Arg293Gln			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R550Q	ENST00000530153.1	37	c.1649		11	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249927	0.39797	.	.	ENSG00000173327	ENST00000309100;ENST00000530153	T;T	0.74106	-0.7;-0.81	5.14	5.14	0.70334	.	0.335214	0.25391	N	0.031001	T	0.69842	0.3156	N	0.19112	0.55	0.09310	N	1	D;B	0.67145	0.996;0.162	P;B	0.56612	0.802;0.056	T	0.61292	-0.7092	10	0.29301	T	0.29	.	11.219	0.48844	0.1832:0.8168:0.0:0.0	.	57;550	B3KQY4;Q16584	.;M3K11_HUMAN	Q	550;293	ENSP00000309597:R550Q;ENSP00000433886:R293Q	ENSP00000309597:R550Q	R	-	2	0	MAP3K11	65130083	0.026000	0.19158	0.353000	0.25747	0.923000	0.55619	1.942000	0.40243	2.407000	0.81776	0.491000	0.48974	CGA	MAP3K11	-	pirsf_MAPKKK9/10/11	ENSG00000173327		0.607	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390233.2	-	0	38	0	C			65373507	-1	tier1	-	no_errors	ENST00000309100	ensembl	human	known	74_37	missense	15.87	53	10	SNP	0.014	T	T	65373507	C	T	65373507	3	4	17	1	0	0	0	0	1	0	0	0	9283	884	31	1	910	1	MAP3K11	11	65373507	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	8617059	65373507	69633009	148	4934											
USP35	57558	genome.wustl.edu	37	chr11	77907300	77907300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgcgggcgccatggacaaGatcttggaggcggtggtgac	8	6	18	9	4	1	2	0	1	1	1	1	4	1	4	1	6	1	0	1	6	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:77907300G>A	ENST00000529308.1	+	2	270	c.9G>A	c.(7-9)aaG>aaA	p.K3K	USP35_ENST00000441408.2_5'Flank|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_5'Flank	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	3					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCATGGACAAGATCTTGGAGG	0.682																																																	0													43	49	47					11																	77907300		2180	4278	6458	SO:0001819	synonymous_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.9G>A	11.37:g.77907300G>A				Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.K3	ENST00000529308.1	37	c.9	CCDS41693.1	11																																																																																			USP35	-	NULL	ENSG00000118369		0.682	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1		0	32	0	G	XM_290527		77907300	1			no_errors	ENST00000529308	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	77907300	G	A	77907300	2	1	17	1	0	0	0	0	0	0	0	1	17115	933	33	3		3	USP35	11	77907300	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	12533793	77907300	57099216	149	4935											
TYR	7299	genome.wustl.edu	37	chr11	88911211	88911211	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtctcctctaagaacctGatggagaaggaatgctgtcc	10	11	11	9	0	2	3	0	1	2	2	4	5	3	4	3	2	2	1	3	2	4	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:88911211G>C	ENST00000263321.5	+	1	592	c.90G>C	c.(88-90)ctG>ctC	p.L30L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	30					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CTAAGAACCTGATGGAGAAGG	0.547																																																	0													78	76	77					11																	88911211		2201	4299	6500	SO:0001819	synonymous_variant	0			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.90G>C	11.37:g.88911211G>C			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.L30	ENST00000263321.5	37	c.90	CCDS8284.1	11																																																																																			TYR	-	NULL	ENSG00000077498		0.547	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2		0	32	0	G	NM_000372		88911211	1			no_errors	ENST00000263321	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.955	C	C	88911211	G	C	88911211	2	2	17	1	0	0	0	0	0	0	0	1	16862	1277	45	5		5	TYR	11	88911211	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11003911	88911211	46095305	150	4936											
YAP1	10413	genome.wustl.edu	37	chr11	102094417	102094417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggactcaaaatccagtgtCttctcccgggatgtctcagg	8	11	11	11	1	4	0	2	0	3	0	7	2	5	2	2	3	0	0	2	3	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:102094417C>G	ENST00000282441.5	+	7	1485	c.1097C>G	c.(1096-1098)tCt>tGt	p.S366C	YAP1_ENST00000531439.1_Missense_Mutation_p.S350C|YAP1_ENST00000345877.2_Missense_Mutation_p.S316C|YAP1_ENST00000537274.1_Missense_Mutation_p.S354C|YAP1_ENST00000526343.1_Missense_Mutation_p.S312C|YAP1_ENST00000524575.1_Missense_Mutation_p.S188C	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	366	Transactivation domain.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AATCCAGTGTCTTCTCCCGGG	0.433																																					Colon(50;247 1103 7861 28956)												0													110	99	103					11																	102094417		2203	4299	6502	SO:0001583	missense	0				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.1097C>G	11.37:g.102094417C>G	ENSP00000282441:p.Ser366Cys		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.S366C	ENST00000282441.5	37	c.1097	CCDS44716.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.13|15.13	2.740774|2.740774	0.49045|0.49045	.|.	.|.	ENSG00000137693|ENSG00000137693	ENST00000529029|ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	.|T;T;T	.|0.49432	.|0.8;0.78;0.84	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.107644	.|0.64402	.|D	.|0.000003	T|T	0.38692|0.38692	0.1050|0.1050	N|N	0.19112|0.19112	0.55|0.55	0.53688|0.53688	D|D	0.999973|0.999973	.|B;B;B;B;B;B	.|0.23650	.|0.001;0.002;0.028;0.089;0.003;0.023	.|B;B;B;B;B;B	.|0.31547	.|0.002;0.008;0.009;0.132;0.002;0.016	T|T	0.28964|0.28964	-1.0027|-1.0027	5|10	.|0.62326	.|D	.|0.03	.|.	15.246|15.246	0.73507|0.73507	0.0:0.8601:0.1399:0.0|0.0:0.8601:0.1399:0.0	.|.	.|188;283;312;350;366;316	.|B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.|.;.;.;.;YAP1_HUMAN;.	V|C	120|312;366;354;316;283;350;188	.|ENSP00000434134:S312C;ENSP00000331023:S316C;ENSP00000435602:S188C	.|ENSP00000282441:S366C	L|S	+|+	1|2	0|0	YAP1|YAP1	101599627|101599627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	5.295000|5.295000	0.65692|0.65692	2.753000|2.753000	0.94483|0.94483	0.555000|0.555000	0.69702|0.69702	CTT|TCT	YAP1	-	NULL	ENSG00000137693		0.433	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	-	0	57	0	C	NM_006106		102094417	1	tier1	-	no_errors	ENST00000282441	ensembl	human	known	74_37	missense	17.20	77	16	SNP	1.000	G	G	102094417	C	G	102094417	3	3	17	1	0	0	0	0	1	0	0	0	17515	913	32	5	1135	5	YAP1	11	102094417	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	13183206	102094417	32912099	151	4937											
HTR3A	3359	genome.wustl.edu	37	chr11	113856798	113856798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaatccgacaggagtgtCttcatgaaccagggagagtg	12	8	14	7	1	2	3	1	2	1	1	3	6	3	4	2	2	1	0	2	2	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:113856798C>T	ENST00000504030.2	+	6	1051	c.606C>T	c.(604-606)gtC>gtT	p.V202V	HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000506841.2_Silent_p.V202V|HTR3A_ENST00000299961.5_Silent_p.V187V|HTR3A_ENST00000355556.2_Silent_p.V208V|HTR3A_ENST00000375498.2_Silent_p.V208V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	202					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	ACAGGAGTGTCTTCATGAACC	0.478																																																	0													192	199	197					11																	113856798		2201	4296	6497	SO:0001819	synonymous_variant	0			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	5297	protein-coding gene	gene with protein product		182139	"5-hydroxytryptamine (serotonin) receptor 3A"	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.606C>T	11.37:g.113856798C>T			B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V208	ENST00000504030.2	37	c.624		11																																																																																			HTR3A	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000166736		0.478	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	-	0	56	0	C	NM_000869		113856798	1	tier1	-	no_errors	ENST00000355556	ensembl	human	known	74_37	silent	10.47	77	9	SNP	1.000	T	T	113856798	C	T	113856798	2	4	17	1	0	0	0	0	0	0	0	1	7471	900	32	3		3	HTR3A	11	113856798	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	11762381	113856798	21149718	152	4938											
DSCAML1	57453	genome.wustl.edu	37	chr11	117302357	117302357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagggtgcgggcaggtgtgGaggcctggcacttggtcagg	5	8	21	7	1	1	1	1	1	0	0	1	2	1	2	1	8	1	2	1	8	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:117302357G>C	ENST00000321322.6	-	31	5448	c.5447C>G	c.(5446-5448)tCc>tGc	p.S1816C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1546C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1756					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCAGGTGTGGAGGCCTGGCA	0.622																																																	0													150	144	146					11																	117302357		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5447C>G	11.37:g.117302357G>C	ENSP00000315465:p.Ser1816Cys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1816C	ENST00000321322.6	37	c.5447	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904598	0.92035	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.62105	0.08;0.05	4.82	4.82	0.62117	.	.	.	.	.	T	0.55609	0.1931	N	0.08118	0	0.80722	D	1	P	0.47253	0.892	P	0.51866	0.682	T	0.64702	-0.6345	9	0.56958	D	0.05	.	17.6813	0.88243	0.0:0.0:1.0:0.0	.	1756	Q8TD84	DSCL1_HUMAN	C	1546;1816;1523	ENSP00000434335:S1546C;ENSP00000315465:S1816C	ENSP00000315465:S1816C	S	-	2	0	DSCAML1	116807567	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.346000	0.97056	2.499000	0.84300	0.561000	0.74099	TCC	DSCAML1	-	NULL	ENSG00000177103		0.622	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	58	0	G	NM_020693		117302357	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	11.43	61	8	SNP	1.000	C	C	117302357	G	C	117302357	3	2	17	1	0	0	0	0	1	0	0	0	4783	1174	41	5	906	5	DSCAML1	11	117302357	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	3445559	117302357	17704159	153	4939											
MLL	4297	genome.wustl.edu	37	chr11	118375063	118375063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtccacacaagtaccccctCcgacaaaaatttactggaca	15	7	5	14	1	0	0	0	0	0	0	2	2	2	1	4	1	2	1	4	1	5	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:118375063C>G	ENST00000389506.5	+	27	8447	c.8447C>G	c.(8446-8448)tCc>tGc	p.S2816C	KMT2A_ENST00000534358.1_Missense_Mutation_p.S2819C|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2778C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2816					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGTACCCCCTCCGACAAAAAT	0.448																																																	0													85	89	88					11																	118375063		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8447C>G	11.37:g.118375063C>G	ENSP00000374157:p.Ser2816Cys		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S2816C	ENST00000389506.5	37	c.8447	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114222	0.37339	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83163	-1.69;-1.69;-1.65	6.17	6.17	0.99709	.	0.099934	0.45126	D	0.000394	D	0.85969	0.5821	L	0.40543	1.245	0.58432	D	0.999994	D;D	0.62365	0.991;0.991	P;P	0.54401	0.751;0.751	D	0.86037	0.1517	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2819;2816	E9PQG7;Q03164	.;MLL1_HUMAN	C	2819;2816;2778;1726	ENSP00000436786:S2819C;ENSP00000374157:S2816C;ENSP00000346516:S2778C	ENSP00000346516:S2778C	S	+	2	0	MLL	117880273	0.993000	0.37304	0.467000	0.27180	0.607000	0.37147	4.799000	0.62517	2.941000	0.99782	0.655000	0.94253	TCC	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.448	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	36	0	C	NM_005933		118375063	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.979	G	G	118375063	C	G	118375063	3	3	17	1	0	0	0	0	1	0	0	0	9658	855	30	5	8553	5	MLL	11	118375063	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1072706	118375063	16631453	154	4940											
BARX2	8538	genome.wustl.edu	37	chr11	129306730	129306730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggtccctgccacccCgggaatcgcccaggcactgt	6	6	10	19	2	0	0	0	0	0	0	2	1	1	1	7	3	1	1	7	3	1	0	rs143991757	byFrequency	TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:129306730C>G	ENST00000281437.4	+	2	368	c.272C>G	c.(271-273)cCg>cGg	p.P91R	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	91					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCTGCCACCCCGGGAATCGCC	0.672																																																	0													70	74	73					11																	129306730		2201	4297	6498	SO:0001583	missense	0			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"Homeoboxes / ANTP class : NKL subclass"	956	protein-coding gene	gene with protein product		604823	"BarH-like homeobox 2"			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.272C>G	11.37:g.129306730C>G	ENSP00000281437:p.Pro91Arg		O43518|Q6NT51	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P91R	ENST00000281437.4	37	c.272	CCDS8481.1	11	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222568	0.22457	.	.	ENSG00000043039	ENST00000281437	D	0.91686	-2.89	5.76	4.84	0.62591	.	0.360824	0.31636	N	0.007319	D	0.86527	0.5954	N	0.24115	0.695	0.23859	N	0.996649	B	0.06786	0.001	B	0.08055	0.003	T	0.75722	-0.3218	10	0.41790	T	0.15	.	15.5588	0.76223	0.0:0.8615:0.1385:0.0	.	91	Q9UMQ3	BARX2_HUMAN	R	91	ENSP00000281437:P91R	ENSP00000281437:P91R	P	+	2	0	BARX2	128811940	0.001000	0.12720	0.007000	0.13788	0.017000	0.09413	1.080000	0.30779	1.413000	0.46997	-0.176000	0.13171	CCG	BARX2	-	NULL	ENSG00000043039		0.672	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX2	HGNC	protein_coding	OTTHUMT00000386153.1	-	0	51	0	C	NM_003658		129306730	1	tier1	-	no_errors	ENST00000281437	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.050	G	G	129306730	C	G	129306730	3	3	17	1	0	0	0	0	1	0	0	0	1317	652	23	5	278	5	BARX2	11	129306730	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	10931667	129306730	5699786	155	4941											
APLP2	334	genome.wustl.edu	37	chr11	130011951	130011951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaggcagtatggcaccatCagccacgggatcgtggaggt	11	6	15	9	2	1	1	1	0	0	1	2	3	1	3	2	5	1	3	2	5	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:130011951C>G	ENST00000263574.5	+	17	2244	c.2172C>G	c.(2170-2172)atC>atG	p.I724M	APLP2_ENST00000528499.1_Missense_Mutation_p.I656M|APLP2_ENST00000345598.5_Missense_Mutation_p.I483M|APLP2_ENST00000543137.1_Missense_Mutation_p.I619M|APLP2_ENST00000278756.7_Missense_Mutation_p.I722M|APLP2_ENST00000338167.5_Missense_Mutation_p.I712M|APLP2_ENST00000539648.1_Missense_Mutation_p.I512M	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	724					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATGGCACCATCAGCCACGGGA	0.592																																																	0													74	57	63					11																	130011951		2201	4297	6498	SO:0001583	missense	0			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.2172C>G	11.37:g.130011951C>G	ENSP00000263574:p.Ile724Met		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.I724M	ENST00000263574.5	37	c.2172	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156755	0.57259	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	5.75	3.87	0.44632	Beta-amyloid precursor protein C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	M	0.63428	1.95	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.999;0.999;0.996;0.998	D	0.95329	0.8428	9	.	.	.	-29.7097	10.7336	0.46111	0.233:0.7012:0.0:0.0657	.	512;724;668;483;650;656;712	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	M	656;512;724;483;712;722;619	ENSP00000435914:I656M;ENSP00000443728:I512M;ENSP00000263574:I724M;ENSP00000263575:I483M;ENSP00000345444:I712M;ENSP00000278756:I722M;ENSP00000444122:I619M	.	I	+	3	3	APLP2	129517161	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.217000	0.42880	0.784000	0.33661	-0.824000	0.03097	ATC	APLP2	-	pfam_APP_amyloid_C	ENSG00000084234		0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1		0	21	0	C	NM_001642		130011951	1			no_errors	ENST00000263574	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	G	G	130011951	C	G	130011951	3	3	17	1	0	0	0	0	1	0	0	0	779	816	29	5	2238	5	APLP2	11	130011951	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	705221	130011951	4994565	156	4942											
ADAMTS15	170689	genome.wustl.edu	37	chr11	130318901	130318901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatcctaaccctggctttCgccgggcgaaccgctggagg	6	7	14	14	4	0	0	0	0	0	0	2	2	1	1	4	5	2	3	4	5	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr11:130318901C>T	ENST00000299164.2	+	1	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	11						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F11F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCCTGGCTTTCGCCGGGCGAA	0.711																																																	1	Substitution - coding silent(1)	urinary_tract(1)											17	17	17					11																	130318901		2200	4295	6495	SO:0001819	synonymous_variant	0			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.33C>T	11.37:g.130318901C>T			Q32MI6	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.F11	ENST00000299164.2	37	c.33	CCDS8488.1	11																																																																																			ADAMTS15	-	NULL	ENSG00000166106		0.711	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1		0	20	0	C	NM_139055		130318901	1			no_errors	ENST00000299164	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.004	T	T	130318901	C	T	130318901	2	4	17	1	0	0	0	0	0	0	0	1	260	883	31	1		1	ADAMTS15	11	130318901	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	306950	130318901	4687615	157	4943											
SLC6A13	6540	genome.wustl.edu	37	chr12	330676	330676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcttgttgtaggtcaGcggagtgtactttatcaggg	7	15	13	6	1	3	0	2	0	1	0	3	1	3	1	0	3	3	4	0	3	4	8			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:330676G>T	ENST00000343164.4	-	14	1604	c.1552C>A	c.(1552-1554)Ctg>Atg	p.L518M	SLC6A13_ENST00000445055.2_Missense_Mutation_p.L426M|SLC6A13_ENST00000539668.1_5'Flank	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	518					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGTAGGTCAGCGGAGTGTAC	0.617																																																	0													68	75	72					12																	330676		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1552C>A	12.37:g.330676G>T	ENSP00000339260:p.Leu518Met		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.L518M	ENST00000343164.4	37	c.1552	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840590	0.71488	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.76060	-0.99;-0.99	5.24	4.24	0.50183	.	0.000000	0.64402	D	0.000001	D	0.86834	0.6028	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;D;D	0.85130	0.997;0.984;0.984	D	0.87171	0.2221	10	0.48119	T	0.1	.	11.6591	0.51337	0.1591:0.0:0.8409:0.0	.	426;497;518	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	M	426;497;518	ENSP00000407104:L426M;ENSP00000339260:L518M	ENSP00000318097:L497M	L	-	1	2	SLC6A13	200937	1.000000	0.71417	0.869000	0.34112	0.985000	0.73830	5.793000	0.69060	1.039000	0.40074	0.448000	0.29417	CTG	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1		0	61	0	G	NM_016615		330676	-1			no_errors	ENST00000343164	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.995	T	T	330676	G	T	330676	3	4	17	1	0	0	0	0	1	0	0	0	14721	962	34	3	264	3	SLC6A13	12	330676	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		330676	133521219	158	4944											
PLBD1	79887	genome.wustl.edu	37	chr12	14664608	14664608	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaatatcaatccactGctaagaatgtaaaaatcatc	17	10	5	9	0	2	1	2	0	0	1	4	1	3	1	1	0	3	4	1	0	8	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:14664608G>A	ENST00000240617.5	-	7	1534	c.882C>T	c.(880-882)agC>agT	p.S294S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	294					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TCAATCCACTGCTAAGAATGT	0.403																																																	0													56	56	56					12																	14664608		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.882C>T	12.37:g.14664608G>A			A8K4E9|Q9BVV3|Q9H625	Silent	SNP	pfam_PLipase_B-like	p.S294	ENST00000240617.5	37	c.882	CCDS31751.1	12																																																																																			PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.403	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	-	0	35	0	G	NM_024829		14664608	-1	tier1	-	no_errors	ENST00000240617	ensembl	human	known	74_37	silent	11.59	61	8	SNP	1.000	A	A	14664608	G	A	14664608	2	1	17	1	0	0	0	0	0	0	0	1	12064	1310	46	3		3	PLBD1	12	14664608	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	14333932	14664608	119187287	159	4945											
DBX2	440097	genome.wustl.edu	37	chr12	45410229	45410229	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccctccatcttggacttGagtgctgttgggggacgtcc	4	13	12	12	1	2	1	0	1	2	0	5	3	4	3	3	3	1	2	3	3	0	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:45410229G>C	ENST00000332700.6	-	4	1031	c.860C>G	c.(859-861)tCa>tGa	p.S287*		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	287					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TCTTGGACTTGAGTGCTGTTG	0.517																																																	0													107	112	110					12																	45410229		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.860C>G	12.37:g.45410229G>C	ENSP00000331470:p.Ser287*			Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.S287*	ENST00000332700.6	37	c.860	CCDS31781.1	12	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403690	0.83230	.	.	ENSG00000185610	ENST00000332700	.	.	.	5.76	3.89	0.44902	.	0.564083	0.16405	N	0.215878	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-1.3937	9.7436	0.40433	0.0737:0.1408:0.7855:0.0	.	.	.	.	X	287	.	ENSP00000331470:S287X	S	-	2	0	DBX2	43696496	0.635000	0.27199	0.191000	0.23289	0.426000	0.31534	2.383000	0.44354	0.746000	0.32786	0.650000	0.86243	TCA	DBX2	-	NULL	ENSG00000185610		0.517	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	HGNC	protein_coding	OTTHUMT00000404810.1	-	0	60	0	G	NM_001004329		45410229	-1	tier1	-	no_errors	ENST00000332700	ensembl	human	known	74_37	nonsense	14.63	70	12	SNP	0.672	C	C	45410229	G	C	45410229	4	2	17	1	0	0	0	0	0	1	0	0	4269	1294	45	5	163	5	DBX2	12	45410229	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	30745621	45410229	88441666	160	4946											
C12orf41	54934	genome.wustl.edu	37	chr12	49065687	49065687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatatacaacgactgcaaacGaattagcttttcacgcataa	17	10	5	9	3	1	0	1	0	0	0	1	2	1	0	0	0	5	3	0	0	8	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:49065687G>C	ENST00000420613.2	-	5	651	c.604C>G	c.(604-606)Cgt>Ggt	p.R202G	KANSL2_ENST00000550347.1_Missense_Mutation_p.R385G|KANSL2_ENST00000553086.1_Missense_Mutation_p.R202G|KANSL2_ENST00000357861.3_Missense_Mutation_p.R7G	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	202					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											GACTGCAAACGAATTAGCTTT	0.403																																																	0													124	120	121					12																	49065687		1883	4108	5991	SO:0001583	missense	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"chromosome 12 open reading frame 41"	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.604C>G	12.37:g.49065687G>C	ENSP00000415436:p.Arg202Gly		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	NULL	p.R202G	ENST00000420613.2	37	c.604	CCDS44869.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848141	0.91277	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000357861	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.987;0.999	D;P;D	0.70487	0.957;0.763;0.969	D	0.87916	0.2700	10	0.87932	D	0	-18.3429	19.3727	0.94495	0.0:0.0:1.0:0.0	.	385;202;7	F8VX10;Q9H9L4;Q9H9L4-2	.;CL041_HUMAN;.	G	385;202;202;7	ENSP00000449747:R385G;ENSP00000415436:R202G;ENSP00000448833:R202G;ENSP00000350527:R7G	ENSP00000350527:R7G	R	-	1	0	C12orf41	47351954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.201000	0.58439	2.878000	0.98634	0.650000	0.86243	CGT	KANSL2	-	NULL	ENSG00000139620		0.403	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	-	0	54	0	G	NM_017822		49065687	-1	tier1	-	no_errors	ENST00000420613	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	C	C	49065687	G	C	49065687	3	2	17	1	0	0	0	0	1	0	0	0	1692	1058	37	5	898	5	C12orf41	12	49065687	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	3655458	49065687	84786208	161	4947											
RNF41	10193	genome.wustl.edu	37	chr12	56600447	56600447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctcgtgggcattttcaatCagctcgttgacaatagaagc	10	11	10	10	3	2	2	2	1	0	1	4	2	2	2	0	1	2	4	0	1	4	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:56600447C>T	ENST00000345093.4	-	7	1107	c.738G>A	c.(736-738)ctG>ctA	p.L246L	RNF41_ENST00000552656.1_Silent_p.L246L|RNF41_ENST00000394013.2_Silent_p.L175L	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	246					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CATTTTCAATCAGCTCGTTGA	0.562											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													92	78	83					12																	56600447		2203	4300	6503	SO:0001819	synonymous_variant	0			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.738G>A	12.37:g.56600447C>T		1016	A6NFW0|B2RBT8|O75598	Silent	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.L246	ENST00000345093.4	37	c.738	CCDS8909.1	12																																																																																			RNF41	-	pfam_USP8_interacting	ENSG00000181852		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1		0	49	0	C	NM_005785		56600447	-1			no_errors	ENST00000345093	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	T	T	56600447	C	T	56600447	2	4	17	1	0	0	0	0	0	0	0	1	13539	813	29	3		3	RNF41	12	56600447	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	7534760	56600447	77251448	162	4948											
CAND1	55832	genome.wustl.edu	37	chr12	67691219	67691219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgttaatttccatccttCaattctgacctgtctacttc	7	19	3	12	0	4	1	1	1	3	0	7	1	6	1	3	0	1	1	3	0	3	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:67691219C>T	ENST00000545606.1	+	5	961	c.524C>T	c.(523-525)tCa>tTa	p.S175L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	175					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTCCATCCTTCAATTCTGACC	0.393																																																	0													123	126	125					12																	67691219		2203	4300	6503	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.524C>T	12.37:g.67691219C>T	ENSP00000442318:p.Ser175Leu		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S175L	ENST00000545606.1	37	c.524	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263688	0.59431	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047	T	0.32515	1.45	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40015	0.1100	L	0.46157	1.445	0.80722	D	1	P	0.43885	0.82	P	0.48704	0.587	T	0.04664	-1.0935	9	.	.	.	-9.499	19.057	0.93069	0.0:1.0:0.0:0.0	.	175	Q86VP6	CAND1_HUMAN	L	175;175;17	ENSP00000442318:S175L	.	S	+	2	0	CAND1	65977486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.508000	0.84585	0.655000	0.94253	TCA	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.393	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	-	0	38	0	C	NM_018448		67691219	1	tier1	-	no_errors	ENST00000545606	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T	T	67691219	C	T	67691219	3	4	17	1	0	0	0	0	1	0	0	0	2622	838	29	3	542	3	CAND1	12	67691219	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	11090772	67691219	66160676	163	4949											
GLIPR1L1	256710	genome.wustl.edu	37	chr12	75728517	75728517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacatccttccatggctctGaagaataaattcagttgttt	11	14	6	10	0	2	2	1	1	1	1	4	2	4	2	3	1	0	3	3	1	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:75728517G>A	ENST00000378695.4	+	1	99	c.9G>A	c.(7-9)ctG>ctA	p.L3L	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Silent_p.L3L			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	3					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CCATGGCTCTGAAGAATAAAT	0.527											OREG0021998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													128	126	127					12																	75728517		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.9G>A	12.37:g.75728517G>A		1162	Q96L06	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.L3	ENST00000378695.4	37	c.9		12																																																																																			GLIPR1L1	-	NULL	ENSG00000173401		0.527	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	GLIPR1L1	HGNC	protein_coding	OTTHUMT00000405714.1	-	0	58	0	G	NM_152779		75728517	1	tier1	-	no_errors	ENST00000378695	ensembl	human	known	74_37	silent	13.46	90	14	SNP	0.000	A	A	75728517	G	A	75728517	2	1	17	1	0	0	0	0	0	0	0	1	6468	1277	45	3		3	GLIPR1L1	12	75728517	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	8037298	75728517	58123378	164	4950											
NAV3	89795	genome.wustl.edu	37	chr12	78569186	78569186	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaatgatgccgactccaaGaagaagaaaaagaaaaactg	20	5	10	6	1	0	5	0	1	0	4	1	6	1	5	2	1	2	1	2	1	8	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:78569186G>C	ENST00000397909.2	+	25	5255	c.5082G>C	c.(5080-5082)aaG>aaC	p.K1694N	NAV3_ENST00000536525.2_Missense_Mutation_p.K1694N|NAV3_ENST00000266692.7_Missense_Mutation_p.K1517N|NAV3_ENST00000228327.6_Missense_Mutation_p.K1694N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1694	Poly-Lys.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCGACTCCAAGAAGAAGAAAA	0.398										HNSCC(70;0.22)																																							0													91	87	88					12																	78569186		1863	4100	5963	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5082G>C	12.37:g.78569186G>C	ENSP00000381007:p.Lys1694Asn		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.K1694N	ENST00000397909.2	37	c.5082		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.461108|3.461108	0.63513|0.63513	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.93811	.|-3.29;-3.29;-3.29;-3.29;-3.29	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.37906	.|U	.|0.001897	D|D	0.95774|0.95774	0.8625|0.8625	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.988;0.999;1.0;1.0	.|P;D;D;D	.|0.85130	.|0.864;0.994;0.948;0.997	D|D	0.95264|0.95264	0.8371|0.8371	5|10	.|0.52906	.|T	.|0.07	-18.5398|-18.5398	13.3168|13.3168	0.60411|0.60411	0.0822:0.0:0.9178:0.0|0.0822:0.0:0.9178:0.0	.|.	.|1694;1517;1694;1694	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	Q|N	589|1694;1694;1694;1517;315;323	.|ENSP00000446132:K1694N;ENSP00000381007:K1694N;ENSP00000228327:K1694N;ENSP00000266692:K1517N;ENSP00000448303:K323N	.|ENSP00000228327:K1694N	E|K	+|+	1|3	0|2	NAV3|NAV3	77093317|77093317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.775000|0.775000	0.43874|0.43874	3.406000|3.406000	0.52637|0.52637	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAA|AAG	NAV3	-	NULL	ENSG00000067798		0.398	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	96	0	G	NM_001024383		78569186	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	8.55	107	10	SNP	1.000	C	C	78569186	G	C	78569186	3	2	17	1	0	0	0	0	1	0	0	0	10223	933	33	5	5180	5	NAV3	12	78569186	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2840669	78569186	55282709	165	4951											
CEP290	80184	genome.wustl.edu	37	chr12	88481593	88481593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttcttcttcaagactgctGattgtacgttcatattcaga	10	17	6	8	1	5	3	3	1	2	2	5	3	5	3	0	0	2	3	0	0	3	8			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:88481593G>C	ENST00000552810.1	-	32	4501	c.4158C>G	c.(4156-4158)atC>atG	p.I1386M	CEP290_ENST00000547691.2_Missense_Mutation_p.I446M|CEP290_ENST00000397838.3_Missense_Mutation_p.I446M|CEP290_ENST00000309041.7_Missense_Mutation_p.I1388M	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1386					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CAAGACTGCTGATTGTACGTT	0.244																																																	0													36	33	34					12																	88481593		1542	3498	5040	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4158C>G	12.37:g.88481593G>C	ENSP00000448012:p.Ile1386Met		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.I1388M	ENST00000552810.1	37	c.4164	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859036	0.51376	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.71461	0.01;-0.57;-0.57;0.01	5.48	2.64	0.31445	.	0.046212	0.85682	D	0.000000	T	0.79793	0.4507	M	0.70275	2.135	0.46654	D	0.999144	D	0.89917	1.0	D	0.91635	0.999	T	0.77469	-0.2576	10	0.48119	T	0.1	.	8.4058	0.32614	0.1346:0.0:0.74:0.1254	.	1386	O15078	CE290_HUMAN	M	446;1386;1388;446	ENSP00000446905:I446M;ENSP00000448012:I1386M;ENSP00000308021:I1388M;ENSP00000380938:I446M	ENSP00000308021:I1388M	I	-	3	3	CEP290	87005724	1.000000	0.71417	0.998000	0.56505	0.633000	0.38033	1.454000	0.35178	0.695000	0.31675	-0.140000	0.14226	ATC	CEP290	-	NULL	ENSG00000198707		0.244	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	48	0	G	NM_025114		88481593	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	C	C	88481593	G	C	88481593	3	2	17	1	0	0	0	0	1	0	0	0	3260	1280	45	5	3373	5	CEP290	12	88481593	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	9912407	88481593	45370302	166	4952											
KERA	11081	genome.wustl.edu	37	chr12	91449383	91449383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataattttctggtattccttCaatggaattgttgtctaaaa	12	18	6	5	0	3	0	1	0	2	0	4	1	4	1	1	2	0	2	1	2	6	9			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:91449383C>T	ENST00000266719.3	-	2	923	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	226					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GGTATTCCTTCAATGGAATTG	0.388																																																	0													116	115	116					12																	91449383		2203	4299	6502	SO:0001583	missense	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6309	protein-coding gene	gene with protein product	"keratocan proteoglycan"	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.676G>A	12.37:g.91449383C>T	ENSP00000266719:p.Glu226Lys			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E226K	ENST00000266719.3	37	c.676	CCDS9037.1	12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016191	0.93404	.	.	ENSG00000139330	ENST00000266719	T	0.18810	2.19	6.08	6.08	0.98989	.	0.041699	0.85682	D	0.000000	T	0.32912	0.0845	L	0.31926	0.97	0.80722	D	1	D	0.59357	0.985	P	0.57620	0.824	T	0.00326	-1.1815	10	0.26408	T	0.33	-24.1169	20.6634	0.99662	0.0:1.0:0.0:0.0	.	226	O60938	KERA_HUMAN	K	226	ENSP00000266719:E226K	ENSP00000266719:E226K	E	-	1	0	KERA	89973514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.894000	0.99253	0.655000	0.94253	GAA	KERA	-	NULL	ENSG00000139330		0.388	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	-	0	48	0	C	NM_007035		91449383	-1	tier1	-	no_errors	ENST00000266719	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T	T	91449383	C	T	91449383	3	4	17	1	0	0	0	0	1	0	0	0	8170	835	29	3	390	3	KERA	12	91449383	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	2967790	91449383	42402512	167	4953											
FAM71C	196472	genome.wustl.edu	37	chr12	100043170	100043170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgtgattatacaatagaGatatgaatccaacatacctc	16	13	5	7	0	0	3	0	2	0	1	2	4	1	3	2	0	3	0	2	0	9	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:100043170G>A	ENST00000324341.1	+	2	1142	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413																																																	0													131	132	131					12																	100043170		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.720G>A	12.37:g.100043170G>A			B2R6Y6	Silent	SNP	pfam_DUF3699	p.E240	ENST00000324341.1	37	c.720	CCDS9072.1	12																																																																																			FAM71C	-	NULL	ENSG00000180219		0.413	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	HGNC	protein_coding	OTTHUMT00000408458.1	-	0	30	0	G	NM_153364		100043170	1	tier1	-	no_errors	ENST00000324341	ensembl	human	known	74_37	silent	12.07	51	7	SNP	0.006	A	A	100043170	G	A	100043170	2	1	17	1	0	0	0	0	0	0	0	1	5631	933	33	3		3	FAM71C	12	100043170	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	8593787	100043170	33808725	168	4954											
MED13L	23389	genome.wustl.edu	37	chr12	116434866	116434866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcttccacttccattttGaattctgtgagttgtgttga	7	18	7	9	0	2	3	0	3	2	0	4	3	4	3	3	0	0	2	3	0	1	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:116434866G>C	ENST00000281928.3	-	15	2945	c.2739C>G	c.(2737-2739)ttC>ttG	p.F913L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	913						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTCCATTTTGAATTCTGTGA	0.423																																																	0													240	223	229					12																	116434866		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2739C>G	12.37:g.116434866G>C	ENSP00000281928:p.Phe913Leu		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.F913L	ENST00000281928.3	37	c.2739	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816489	0.50527	.	.	ENSG00000123066	ENST00000281928	T	0.73575	-0.76	5.87	0.917	0.19380	.	0.095419	0.85682	D	0.000000	T	0.61502	0.2352	L	0.40543	1.245	0.39278	D	0.964508	P	0.43788	0.817	B	0.39339	0.297	T	0.56323	-0.7998	10	0.25751	T	0.34	-15.9654	11.4648	0.50232	0.4274:0.0:0.5726:0.0	.	913	Q71F56	MD13L_HUMAN	L	913	ENSP00000281928:F913L	ENSP00000281928:F913L	F	-	3	2	MED13L	114919249	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	1.330000	0.33781	-0.090000	0.12462	-0.229000	0.12294	TTC	MED13L	-	NULL	ENSG00000123066		0.423	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	39	0	G			116434866	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.969	C	C	116434866	G	C	116434866	3	2	17	1	0	0	0	0	1	0	0	0	9469	1281	45	5	3961	5	MED13L	12	116434866	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	16391696	116434866	17417029	169	4955											
GCN1L1	10985	genome.wustl.edu	37	chr12	120591024	120591024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatggcaggtacctgctggGagggggtggagagggcagcg	8	5	22	6	1	0	2	0	0	0	2	0	4	0	3	1	7	3	4	1	7	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr12:120591024G>C	ENST00000300648.6	-	33	4067	c.4055C>G	c.(4054-4056)tCc>tGc	p.S1352C	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1352					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACCTGCTGGGAGGGGGTGGA	0.602																																																	0													53	57	55					12																	120591024		1985	4154	6139	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4055C>G	12.37:g.120591024G>C	ENSP00000300648:p.Ser1352Cys		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S1352C	ENST00000300648.6	37	c.4055	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731937	0.89390	.	.	ENSG00000089154	ENST00000300648	T	0.68479	-0.33	5.7	5.7	0.88788	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90981	0.4827	10	0.87932	D	0	-17.125	19.8377	0.96663	0.0:0.0:1.0:0.0	.	1352	Q92616	GCN1L_HUMAN	C	1352	ENSP00000300648:S1352C	ENSP00000300648:S1352C	S	-	2	0	GCN1L1	119075407	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.505000	0.97989	2.711000	0.92665	0.561000	0.74099	TCC	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1		0	28	0	G			120591024	-1			no_errors	ENST00000300648	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	C	C	120591024	G	C	120591024	3	2	17	1	0	0	0	0	1	0	0	0	6324	1174	41	5	4064	5	GCN1L1	12	120591024	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4156158	120591024	13260871	170	4956											
BRCA2	675	genome.wustl.edu	37	chr13	32954186	32954186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatttaccagccacgggagCcccttcacttcagcaaattt	11	10	7	13	1	2	1	2	0	0	1	2	2	2	2	4	1	4	1	4	1	2	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr13:32954186C>T	ENST00000380152.3	+	24	9393	c.9160C>T	c.(9160-9162)Ccc>Tcc	p.P3054S	BRCA2_ENST00000544455.1_Missense_Mutation_p.P3054S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3054					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCCACGGGAGCCCCTTCACTT	0.363			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													56	56	56					13																	32954186		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9160C>T	13.37:g.32954186C>T	ENSP00000369497:p.Pro3054Ser		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.P3054S	ENST00000380152.3	37	c.9160	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088513	0.20390	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80994	-1.44;-1.44	5.5	-0.815	0.10843	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.831124	0.11141	N	0.595229	T	0.65533	0.2700	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.48479	-0.9032	10	0.22706	T	0.39	.	7.0027	0.24820	0.0:0.2484:0.382:0.3696	.	3054	P51587	BRCA2_HUMAN	S	3054	ENSP00000369497:P3054S;ENSP00000439902:P3054S	ENSP00000369497:P3054S	P	+	1	0	BRCA2	31852186	0.000000	0.05858	0.054000	0.19295	0.966000	0.64601	0.289000	0.18957	-0.023000	0.13963	-0.143000	0.13931	CCC	BRCA2	-	pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2	ENSG00000139618		0.363	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	69	0	C	NM_000059		32954186	1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.000	T	T	32954186	C	T	32954186	3	4	17	1	0	0	0	0	1	0	0	0	1503	739	26	3	9250	3	BRCA2	13	32954186	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		32954186	82215692	171	4957											
PDS5B	23047	genome.wustl.edu	37	chr13	33330027	33330027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgttgttccatatacaattCaccttttggcacatgaccca	11	14	5	11	0	1	1	1	1	0	0	2	1	2	1	3	1	1	3	3	1	3	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr13:33330027C>G	ENST00000315596.10	+	26	3175	c.2989C>G	c.(2989-2991)Cac>Gac	p.H997D		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	997					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATATACAATTCACCTTTTGGC	0.289																																																	0													128	117	121					13																	33330027		1818	4067	5885	SO:0001583	missense	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2989C>G	13.37:g.33330027C>G	ENSP00000313851:p.His997Asp		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H997D	ENST00000315596.10	37	c.2989	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935822	0.73442	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.66280	-0.2	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.76315	-0.3004	10	0.48119	T	0.1	-17.6613	19.7111	0.96096	0.0:1.0:0.0:0.0	.	997	Q9NTI5	PDS5B_HUMAN	D	997	ENSP00000313851:H997D	ENSP00000313851:H997D	H	+	1	0	PDS5B	32228027	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.731000	0.84895	2.664000	0.90586	0.491000	0.48974	CAC	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.289	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	-	0	36	0	C	NM_015032		33330027	1	tier1	-	no_errors	ENST00000315596	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	G	G	33330027	C	G	33330027	3	3	17	1	0	0	0	0	1	0	0	0	11731	826	29	5	3087	5	PDS5B	13	33330027	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	375841	33330027	81839851	172	4958											
C13orf23	80209	genome.wustl.edu	37	chr13	39591640	39591640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaatttgctacttactttGattctgtataggttttgacg	9	19	7	6	1	2	2	1	2	1	0	2	2	2	2	0	1	3	3	0	1	5	9			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr13:39591640G>C	ENST00000352251.3	-	10	1605	c.772C>G	c.(772-774)Caa>Gaa	p.Q258E	PROSER1_ENST00000350125.3_Missense_Mutation_p.Q236E|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	258	Pro-rich.																TACTTACTTTGATTCTGTATA	0.289																																																	0													85	73	77					13																	39591640		2197	4293	6490	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.772C>G	13.37:g.39591640G>C	ENSP00000332034:p.Gln258Glu		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.Q258E	ENST00000352251.3	37	c.772	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110192	0.37242	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.32272	1.46;1.46	5.95	5.95	0.96441	.	.	.	.	.	T	0.36331	0.0963	L	0.59436	1.845	0.46279	D	0.998968	P;P	0.41131	0.739;0.739	B;B	0.41510	0.359;0.359	T	0.03673	-1.1014	8	.	.	.	.	17.5371	0.87835	0.0:0.0:1.0:0.0	.	236;258	A6NJ97;Q86XN7	.;PRSR1_HUMAN	E	258;236	ENSP00000332034:Q258E;ENSP00000339123:Q236E	.	Q	-	1	0	PROSER1	38489640	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	6.037000	0.70956	2.821000	0.97095	0.650000	0.86243	CAA	PROSER1	-	NULL	ENSG00000120685		0.289	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0	42	0	G	NM_025138		39591640	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	C	C	39591640	G	C	39591640	3	2	17	1	0	0	0	0	1	0	0	0	1726	1299	45	5	2078	5	C13orf23	13	39591640	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6261613	39591640	75578238	173	4959											
KCTD4	386618	genome.wustl.edu	37	chr13	45768277	45768277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttatctgttatttccaaGaaagtagtctctctgggtgt	8	17	10	6	0	3	1	0	0	3	1	5	1	4	1	1	2	0	3	1	2	5	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr13:45768277G>A	ENST00000379108.1	-	1	575	c.426C>T	c.(424-426)ttC>ttT	p.F142F	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000405872.1_Silent_p.F142F			Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	142					protein homooligomerization (GO:0051260)					breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTATTTCCAAGAAAGTAGTCT	0.408																																																	0													112	106	108					13																	45768277		2203	4300	6503	SO:0001819	synonymous_variant	0			BC018063	CCDS9396.1	13q14.12-q14.13	2013-06-20	2013-06-20		ENSG00000180332	ENSG00000180332			23227	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 4"				Standard	NM_198404		Approved	bA321C24.3	uc001uzx.4	Q8WVF5	OTTHUMG00000016844	ENST00000379108.1:c.426C>T	13.37:g.45768277G>A			Q5W0P9	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.F142	ENST00000379108.1	37	c.426	CCDS9396.1	13																																																																																			KCTD4	-	NULL	ENSG00000180332		0.408	KCTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD4	HGNC	protein_coding	OTTHUMT00000044757.1	-	0	33	0	G			45768277	-1	tier1	-	no_errors	ENST00000379108	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	A	A	45768277	G	A	45768277	2	1	17	1	0	0	0	0	0	0	0	1	8138	933	33	3		3	KCTD4	13	45768277	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6176637	45768277	69401601	174	4960											
DOCK9	23348	genome.wustl.edu	37	chr13	99538803	99538803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacctcatcataaaattctgGgttttggtgatggtgtaaaa	12	15	9	5	0	3	1	2	1	1	0	3	1	3	1	1	3	1	2	1	3	5	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr13:99538803G>C	ENST00000376460.1	-	19	2199	c.2119C>G	c.(2119-2121)Cca>Gca	p.P707A	DOCK9_ENST00000448493.2_Missense_Mutation_p.P719A|DOCK9_ENST00000339416.2_Missense_Mutation_p.P708A|DOCK9_ENST00000442173.1_Missense_Mutation_p.P707A	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	708	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAAAATTCTGGGTTTTGGTGA	0.383																																																	0													75	72	73					13																	99538803		1826	4086	5912	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2119C>G	13.37:g.99538803G>C	ENSP00000365643:p.Pro707Ala		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P708A	ENST00000376460.1	37	c.2122	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822639	0.90873	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	T	0.43572	-0.9383	9	.	.	.	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	708;707;707;707;708	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	A	707;708;708;708;707;708;719;707	ENSP00000365643:P707A;ENSP00000341086:P708A;ENSP00000401958:P719A;ENSP00000406883:P707A	.	P	-	1	0	DOCK9	98336804	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.473000	0.97714	2.797000	0.96272	0.655000	0.94253	CCA	DOCK9	-	NULL	ENSG00000088387		0.383	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	-	0	26	0	G	NM_015296		99538803	-1	tier1	-	no_errors	ENST00000339416	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	C	C	99538803	G	C	99538803	3	2	17	1	0	0	0	0	1	0	0	0	4708	1232	43	5	4300	5	DOCK9	13	99538803	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	53770526	99538803	15631075	175	4961											
PCCA	5095	genome.wustl.edu	37	chr13	100861714	100861714	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggctttgatggagtagtCaaggtgagaagctactttaa	11	12	12	6	0	1	2	1	2	0	1	1	4	1	3	1	3	2	3	1	3	5	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr13:100861714C>G	ENST00000376285.1	+	7	635	c.597C>G	c.(595-597)gtC>gtG	p.V199V	PCCA_ENST00000376279.3_Silent_p.V199V|PCCA_ENST00000376286.4_Silent_p.V173V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	199	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATGGAGTAGTCAAGGTGAGAA	0.333																																																	0													127	112	117					13																	100861714		2203	4300	6503	SO:0001819	synonymous_variant	0			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.597C>G	13.37:g.100861714C>G			B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.V199	ENST00000376285.1	37	c.597	CCDS9496.2	13																																																																																			PCCA	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom	ENSG00000175198		0.333	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	-	0	28	0	C			100861714	1	tier1	-	no_errors	ENST00000376285	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	G	G	100861714	C	G	100861714	2	3	17	1	0	0	0	0	0	0	0	1	11543	813	29	5		5	PCCA	13	100861714	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1322911	100861714	14308164	176	4962											
OXA1L	5018	genome.wustl.edu	37	chr14	23235862	23235862	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgcttcctctcgaggggTtgtggttcttactgcgcagg	5	13	14	9	2	2	0	0	0	2	0	4	1	3	0	1	4	3	4	1	4	2	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:23235862T>C	ENST00000285848.5	+	1	132	c.132T>C	c.(130-132)ggT>ggC	p.G44G	OXA1L_ENST00000358043.5_5'Flank|OXA1L_ENST00000412791.1_5'Flank|OXA1L_ENST00000604262.1_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554857.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0			V -> A (in dbSNP:rs8572). {ECO:0000269|Ref.3}.		aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TCTCGAGGGGTTGTGGTTCTT	0.557																																																	0													106	117	113					14																	23235862		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.132T>C	14.37:g.23235862T>C			B4DPA2	Silent	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C	p.G44	ENST00000285848.5	37	c.132	CCDS9573.1	14																																																																																			OXA1L	-	NULL	ENSG00000155463		0.557	OXA1L-001	KNOWN	basic|CCDS	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000071630.2	-	0	35	0	T	NM_005015		23235862	1	tier1	-	no_errors	ENST00000285848	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.000	C	C	23235862	T	C	23235862	2	2	17	1	0	0	0	0	0	0	0	1	11367	1712	60	4		4	OXA1L	14	23235862	Silent	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09		23235862	84113678	177	4963											
NPAS3	64067	genome.wustl.edu	37	chr14	34029384	34029384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaatttttgtacatttccGaaacagtctccatctaccta	13	14	4	10	1	2	0	0	0	2	0	4	2	3	0	3	0	3	1	3	0	6	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:34029384G>A	ENST00000356141.4	+	5	526	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	NPAS3_ENST00000551008.1_Missense_Mutation_p.E74K|NPAS3_ENST00000551492.1_Missense_Mutation_p.E181K|NPAS3_ENST00000346562.2_Missense_Mutation_p.E144K|NPAS3_ENST00000357798.5_Missense_Mutation_p.E163K|NPAS3_ENST00000341321.4_Missense_Mutation_p.E176K|NPAS3_ENST00000548645.1_Missense_Mutation_p.E146K|NPAS3_ENST00000547068.1_Missense_Mutation_p.E72K			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	176	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTACATTTCCGAAACAGTCTC	0.348																																																	0													80	81	81					14																	34029384		2203	4300	6503	SO:0001583	missense	0			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.526G>A	14.37:g.34029384G>A	ENSP00000348460:p.Glu176Lys		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.E176K	ENST00000356141.4	37	c.526	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.681221	0.96774	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798;ENST00000547068;ENST00000551008;ENST00000546849	T;T;T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.82	5.82	0.92795	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.83692	2.655	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0	P;D;D;D;D	0.80764	0.66;0.985;0.991;0.985;0.994	T	0.56025	-0.8047	10	0.72032	D	0.01	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	74;146;176;144;163	F8W0C2;Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;.;NPAS3_HUMAN;.;.	K	153;181;144;176;146;176;163;72;74;86	ENSP00000448373:E153K;ENSP00000450392:E181K;ENSP00000319610:E144K;ENSP00000344158:E176K;ENSP00000448916:E146K;ENSP00000348460:E176K;ENSP00000350446:E163K;ENSP00000449542:E72K;ENSP00000447213:E74K;ENSP00000446700:E86K	ENSP00000344158:E176K	E	+	1	0	NPAS3	33099135	1.000000	0.71417	0.992000	0.48379	0.957000	0.61999	9.807000	0.99171	2.753000	0.94483	0.557000	0.71058	GAA	NPAS3	-	pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	ENSG00000151322		0.348	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	-	0	50	0	G			34029384	1	tier1	-	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	13.98	80	13	SNP	1.000	A	A	34029384	G	A	34029384	3	1	17	1	0	0	0	0	1	0	0	0	10603	1059	37	1	599	1	NPAS3	14	34029384	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	10793522	34029384	73320156	178	4964											
FRMD6	122786	genome.wustl.edu	37	chr14	52187044	52187044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgaccagtcatggcagCtcccacacctcaggggtgga	10	7	11	13	0	3	1	3	1	0	0	4	2	4	2	3	4	1	2	3	4	1	0	rs75861020		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:52187044C>T	ENST00000344768.5	+	11	1492	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	FRMD6_ENST00000395718.2_Silent_p.S424S|FRMD6_ENST00000553556.1_Silent_p.S74S|FRMD6_ENST00000356218.4_Silent_p.S424S|FRMD6_ENST00000554167.1_Silent_p.S355S			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	432					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTCATGGCAGCTCCCACACCT	0.587																																																	0													43	44	44					14																	52187044		2203	4300	6503	SO:0001819	synonymous_variant	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1296C>T	14.37:g.52187044C>T			D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.S432	ENST00000344768.5	37	c.1296	CCDS58318.1	14																																																																																			FRMD6	-	NULL	ENSG00000139926		0.587	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	-	0	30	0	C	NM_152330		52187044	1	tier1	-	no_errors	ENST00000344768	ensembl	human	known	74_37	silent	16.67	40	8	SNP	1.000	T	T	52187044	C	T	52187044	2	4	17	1	0	0	0	0	0	0	0	1	6078	796	28	3		3	FRMD6	14	52187044	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	18157660	52187044	55162496	179	4965											
SAMD4A	23034	genome.wustl.edu	37	chr14	55203862	55203862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgaggacttacgagctaGaggaccccagtgcctcccat	10	8	10	13	1	1	2	1	1	0	1	2	5	2	4	4	2	3	1	4	2	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:55203862G>C	ENST00000554335.1	+	4	1499	c.836G>C	c.(835-837)aGa>aCa	p.R279T	SAMD4A_ENST00000357634.3_Missense_Mutation_p.R278T|SAMD4A_ENST00000392067.3_Missense_Mutation_p.R279T|SAMD4A_ENST00000251091.5_Intron			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	279					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TTACGAGCTAGAGGACCCCAG	0.537																																																	0													238	223	228					14																	55203862		2203	4300	6503	SO:0001583	missense	0			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"Sterile alpha motif (SAM) domain containing"	23023	protein-coding gene	gene with protein product	"smaug homolog (Drosophila)"	610747	"sterile alpha motif domain containing 4"	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.836G>C	14.37:g.55203862G>C	ENSP00000452535:p.Arg279Thr		A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.R279T	ENST00000554335.1	37	c.836	CCDS32084.2	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033993	0.75504	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000357634	.	.	.	5.67	5.67	0.87782	.	0.052954	0.64402	D	0.000001	T	0.67126	0.2860	L	0.58101	1.795	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.63875	-0.6538	9	0.87932	D	0	-19.8493	19.7848	0.96432	0.0:0.0:1.0:0.0	.	279	Q9UPU9	SMAG1_HUMAN	T	279;279;278	.	ENSP00000350261:R278T	R	+	2	0	SAMD4A	54273612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.985000	0.70556	2.673000	0.90976	0.655000	0.94253	AGA	SAMD4A	-	NULL	ENSG00000020577		0.537	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4A	HGNC	protein_coding	OTTHUMT00000411186.1	-	0	55	0	G	NM_015589		55203862	1	tier1	-	no_errors	ENST00000392067	ensembl	human	known	74_37	missense	11.11	88	11	SNP	1.000	C	C	55203862	G	C	55203862	3	2	17	1	0	0	0	0	1	0	0	0	13866	942	33	5	843	5	SAMD4A	14	55203862	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	3016818	55203862	52145678	180	4966											
SYNE2	23224	genome.wustl.edu	37	chr14	64457753	64457753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatggaagaatcccagaagGaacttgaatcatatatgatg	17	9	10	5	0	1	5	1	2	0	3	2	7	2	7	1	2	1	0	1	2	7	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:64457753G>A	ENST00000344113.4	+	21	2778	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	SYNE2_ENST00000358025.3_Missense_Mutation_p.E856K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E856K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	856					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCCCAGAAGGAACTTGAATC	0.433																																																	0													76	73	74					14																	64457753		1843	4097	5940	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2566G>A	14.37:g.64457753G>A	ENSP00000341781:p.Glu856Lys		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E856K	ENST00000344113.4	37	c.2566	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261616	0.59431	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59772	0.58;0.58;0.24	6.06	6.06	0.98353	.	0.114811	0.37955	N	0.001869	T	0.67674	0.2918	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.63664	-0.6586	10	0.37606	T	0.19	.	16.1209	0.81357	0.0:0.0:1.0:0.0	.	856;856	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	856	ENSP00000350719:E856K;ENSP00000341781:E856K;ENSP00000452570:E856K	ENSP00000261678:E856K	E	+	1	0	SYNE2	63527506	1.000000	0.71417	0.956000	0.39512	0.484000	0.33280	3.071000	0.50041	2.882000	0.98803	0.655000	0.94253	GAA	SYNE2	-	NULL	ENSG00000054654		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	29	0	G	NM_182914		64457753	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	18.37	40	9	SNP	0.998	A	A	64457753	G	A	64457753	3	1	17	1	0	0	0	0	1	0	0	0	15493	1175	41	3	2644	3	SYNE2	14	64457753	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	9253891	64457753	42891787	181	4967											
SYNE2	23224	genome.wustl.edu	37	chr14	64469753	64469753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaataaagagggagaaattCatctgatgaaagacaaggcc	20	6	10	5	0	2	5	1	2	1	3	2	6	2	5	1	2	0	0	1	2	7	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:64469753C>T	ENST00000344113.4	+	30	4314	c.4102C>T	c.(4102-4104)Cat>Tat	p.H1368Y	SYNE2_ENST00000358025.3_Missense_Mutation_p.H1368Y|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.H1368Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1368					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGAGAAATTCATCTGATGAA	0.413																																																	0													79	73	75					14																	64469753		1852	4103	5955	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.4102C>T	14.37:g.64469753C>T	ENSP00000341781:p.His1368Tyr		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H1368Y	ENST00000344113.4	37	c.4102	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	2.723	-0.266076	0.05754	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56103	0.85;0.85;0.48	5.65	-1.17	0.09648	.	1.528650	0.04135	N	0.318559	T	0.29716	0.0742	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.12837	-1.0532	10	0.02654	T	1	.	2.105	0.03688	0.1294:0.321:0.1177:0.4319	.	1368;1368	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Y	1368	ENSP00000350719:H1368Y;ENSP00000341781:H1368Y;ENSP00000452570:H1368Y	ENSP00000261678:H1368Y	H	+	1	0	SYNE2	63539506	0.000000	0.05858	0.000000	0.03702	0.391000	0.30476	-0.668000	0.05268	-0.248000	0.09583	-0.142000	0.14014	CAT	SYNE2	-	NULL	ENSG00000054654		0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0	15	0	C	NM_182914		64469753	1			no_errors	ENST00000358025	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.000	T	T	64469753	C	T	64469753	3	4	17	1	0	0	0	0	1	0	0	0	15493	826	29	3	4216	3	SYNE2	14	64469753	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	12000	64469753	42879787	182	4968											
HSPA2	3306	genome.wustl.edu	37	chr14	65009364	65009364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagtatgaacacaagcaGaaagagctcgaaagagtttg	17	7	12	5	1	0	5	0	2	0	3	1	7	0	5	0	0	3	4	0	0	5	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:65009364G>A	ENST00000394709.1	+	2	1873	c.1797G>A	c.(1795-1797)caG>caA	p.Q599Q	HSPA2_ENST00000247207.6_Silent_p.Q599Q|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	599					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AACACAAGCAGAAAGAGCTCG	0.557																																					Pancreas(136;1211 1835 24894 31984 38227)												0													110	110	110					14																	65009364		2203	4300	6503	SO:0001819	synonymous_variant	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1797G>A	14.37:g.65009364G>A			Q15508|Q53XM3|Q9UE78	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.Q599	ENST00000394709.1	37	c.1797	CCDS9766.1	14																																																																																			HSPA2	-	pfam_Hsp_70_fam	ENSG00000126803		0.557	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1		0	15	0	G			65009364	1			no_errors	ENST00000247207	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	A	A	65009364	G	A	65009364	2	1	17	1	0	0	0	0	0	0	0	1	7438	933	33	3		3	HSPA2	14	65009364	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	539611	65009364	42340176	183	4969											
FAM71D	161142	genome.wustl.edu	37	chr14	67669818	67669818	+	3'UTR	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgcactcaggtcaacaGaagaggtgaatccatttacc	12	11	8	10	0	3	3	2	1	1	2	4	3	4	3	2	2	3	1	2	2	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:67669818G>C	ENST00000556046.1	+	0	708							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CAGGTCAACAGAAGAGGTGAA	0.463																																																	0													98	84	89					14																	67669818		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 54"	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*223G>C	14.37:g.67669818G>C			Q86VN4	Missense_Mutation	SNP	pfam_DUF3699	p.R56T	ENST00000556046.1	37	c.167		14	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900045	0.72754	.	.	ENSG00000172717	ENST00000524532;ENST00000530728	T;T	0.55930	0.49;1.31	5.32	4.42	0.53409	.	0.460995	0.21226	N	0.078075	T	0.65575	0.2704	M	0.71581	2.175	.	.	.	D	0.76494	0.999	D	0.66084	0.941	T	0.75139	-0.3423	9	0.87932	D	0	-17.6654	7.2301	0.26038	0.1738:0.0:0.8262:0.0	.	56	Q8N9W8	FA71D_HUMAN	T	56	ENSP00000436280:R56T;ENSP00000433183:R56T	ENSP00000431905:R56T	R	+	2	0	FAM71D	66739571	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	2.563000	0.45922	2.485000	0.83878	0.643000	0.83706	AGA	FAM71D	-	NULL	ENSG00000172717		0.463	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	FAM71D	HGNC	protein_coding	OTTHUMT00000412390.1	-	0	55	0	G	NM_173526		67669818	1	tier1	-	no_errors	ENST00000311864	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.999	C	C	67669818	G	C	67669818	1	2	17	0	1	0	0	0	0	0	0	0	5632	942	33	5		5	FAM71D	14	67669818	3'UTR	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2660454	67669818	39679722	184	4970											
ATP6V1D	51382	genome.wustl.edu	37	chr14	67819642	67819642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaagttcattctacctCtattatcttctttaggatct	12	17	4	8	0	6	1	1	0	5	1	6	2	6	2	1	1	1	1	1	1	7	8			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:67819642C>G	ENST00000216442.7	-	2	707	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	ATP6V1D_ENST00000554236.1_Missense_Mutation_p.E53Q|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.E53Q|ATP6V1D_ENST00000555431.1_Intron	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	53					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		CATTCTACCTCTATTATCTTC	0.328																																																	0													132	141	138					14																	67819642		2203	4300	6503	SO:0001583	missense	0			AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"ATPases / V-type"	13527	protein-coding gene	gene with protein product		609398	"ATPase, H+ transporting, lysosomal (vacuolar proton pump)"	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.157G>C	14.37:g.67819642C>G	ENSP00000216442:p.Glu53Gln		B2RE33|Q9Y688	Missense_Mutation	SNP	pfam_V_ATPase_D,tigrfam_V_ATPase_D	p.E53Q	ENST00000216442.7	37	c.157	CCDS9780.1	14	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004540	0.54254	.	.	ENSG00000100554	ENST00000555474;ENST00000216442;ENST00000554236;ENST00000555723;ENST00000553687;ENST00000555012	.	.	.	5.8	4.88	0.63580	.	0.045452	0.85682	D	0.000000	T	0.52386	0.1731	L	0.27944	0.81	0.80722	D	1	B	0.17667	0.023	B	0.24269	0.052	T	0.48636	-0.9018	9	0.44086	T	0.13	-23.7698	16.9243	0.86172	0.0:0.8725:0.1275:0.0	.	53	Q9Y5K8	VATD_HUMAN	Q	53;53;53;5;35;53	.	ENSP00000216442:E53Q	E	-	1	0	ATP6V1D	66889395	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.740000	0.68629	2.748000	0.94277	0.655000	0.94253	GAG	ATP6V1D	-	pfam_V_ATPase_D,tigrfam_V_ATPase_D	ENSG00000100554		0.328	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1D	HGNC	protein_coding	OTTHUMT00000412511.1	-	0	75	0	C	NM_015994		67819642	-1	tier1	-	no_errors	ENST00000216442	ensembl	human	known	74_37	missense	12.41	127	18	SNP	1.000	G	G	67819642	C	G	67819642	3	3	17	1	0	0	0	0	1	0	0	0	1183	922	32	5	618	5	ATP6V1D	14	67819642	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	149824	67819642	39529898	185	4971											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72055797	72055797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagcctcagcatggaccaggGagatgataaaagcaatgagc	16	5	12	8	0	1	3	1	2	0	1	1	5	1	4	2	2	4	2	2	2	4	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:72055797G>C	ENST00000555818.1	+	2	1556	c.1208G>C	c.(1207-1209)gGa>gCa	p.G403A	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.G403A|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.G403A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	403					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATGGACCAGGGAGATGATAAA	0.463																																																	0													86	87	87					14																	72055797		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1208G>C	14.37:g.72055797G>C	ENSP00000450832:p.Gly403Ala		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.G403A	ENST00000555818.1	37	c.1208	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226673	0.79576	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.87179	-2.22;-2.18;-2.22	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.94948	0.8366	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	0.97;1.0;0.999	P;D;D	0.85130	0.77;0.997;0.995	D	0.95044	0.8181	10	0.87932	D	0	-22.2422	20.2187	0.98312	0.0:0.0:1.0:0.0	.	403;403;403	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	A	403	ENSP00000370630:G403A;ENSP00000450832:G403A;ENSP00000351352:G403A	ENSP00000351352:G403A	G	+	2	0	SIPA1L1	71125550	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GGA	SIPA1L1	-	NULL	ENSG00000197555		0.463	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0	50	0	G	NM_015556		72055797	1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	10.19	95	11	SNP	1.000	C	C	72055797	G	C	72055797	3	2	17	1	0	0	0	0	1	0	0	0	14374	1174	41	5	1210	5	SIPA1L1	14	72055797	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4236155	72055797	35293743	186	4972											
TGFB3	7043	genome.wustl.edu	37	chr14	76447096	76447096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagcctgagcttgctcaaGatctgtcccctaatggcttc	7	12	10	12	0	2	3	1	2	1	1	4	3	3	3	3	1	3	3	3	1	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:76447096G>C	ENST00000238682.3	-	1	438	c.141C>G	c.(139-141)atC>atG	p.I47M	TGFB3_ENST00000556674.1_5'Flank|TGFB3_ENST00000556285.1_Missense_Mutation_p.I47M	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	47					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		GCTTGCTCAAGATCTGTCCCC	0.587																																																	0													157	149	152					14																	76447096		2203	4300	6503	SO:0001583	missense	0				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"Endogenous ligands"	11769	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-3"	190230	"arrhythmogenic right ventricular dysplasia 1"	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.141C>G	14.37:g.76447096G>C	ENSP00000238682:p.Ile47Met		Q8WV88	Missense_Mutation	SNP	pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta	p.I47M	ENST00000238682.3	37	c.141	CCDS9846.1	14	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618695	0.46736	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.70986	-0.53;-0.53	4.65	4.65	0.58169	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	M	0.85859	2.78	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	D	0.85767	0.1353	10	0.87932	D	0	-0.5976	10.3778	0.44092	0.0922:0.0:0.9078:0.0	.	47	P10600	TGFB3_HUMAN	M	47	ENSP00000238682:I47M;ENSP00000451110:I47M	ENSP00000238682:I47M	I	-	3	3	TGFB3	75516849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.225000	0.42954	2.302000	0.77476	0.561000	0.74099	ATC	TGFB3	-	pirsf_TGF-beta,pfam_TGF-b_N	ENSG00000119699		0.587	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	-	0	70	0	G	NM_003239		76447096	-1	tier1	-	no_errors	ENST00000238682	ensembl	human	known	74_37	missense	15.97	100	19	SNP	1.000	C	C	76447096	G	C	76447096	3	2	17	1	0	0	0	0	1	0	0	0	15866	932	33	5	1125	5	TGFB3	14	76447096	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4391299	76447096	30902444	187	4973											
TDP1	55775	genome.wustl.edu	37	chr14	90446926	90446926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagaaggcctccgggttgtCatacacacctccaacctcat	11	8	8	14	1	2	1	2	0	0	1	4	2	4	1	5	2	2	1	5	2	4	2	rs377532827		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:90446926C>T	ENST00000335725.4	+	8	1084	c.834C>T	c.(832-834)gtC>gtT	p.V278V	TDP1_ENST00000393452.3_Silent_p.V278V|TDP1_ENST00000555880.1_Silent_p.V278V|TDP1_ENST00000357382.3_Silent_p.V39V|TDP1_ENST00000393454.2_Silent_p.V278V|TDP1_ENST00000555565.1_3'UTR	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	278					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCGGGTTGTCATACACACCT	0.443								Repair of DNA-protein crosslinks																																									0								C	,	1,4405	2.1+/-5.4	0,1,2202	118	110	113		834,834	6.1	1	14		113	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TDP1	NM_001008744.1,NM_018319.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	278/609,278/609	90446926	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.834C>T	14.37:g.90446926C>T			Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	pfam_Tyr-DNA_phospho	p.V278	ENST00000335725.4	37	c.834	CCDS9888.1	14																																																																																			TDP1	-	pfam_Tyr-DNA_phospho	ENSG00000042088		0.443	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	-	0	63	0	C	NM_018319		90446926	1	tier1	-	no_errors	ENST00000335725	ensembl	human	known	74_37	silent	9.90	91	10	SNP	1.000	T	T	90446926	C	T	90446926	2	4	17	1	0	0	0	0	0	0	0	1	15775	813	29	3		3	TDP1	14	90446926	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	13999830	90446926	16902614	188	4974											
IFI27L2	83982	genome.wustl.edu	37	chr14	94594153	94594153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttattcctcatgtttctCtgacttgagtgggggttttg	4	19	10	8	0	2	2	1	2	1	0	4	2	3	2	2	2	0	2	2	2	1	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:94594153C>G	ENST00000238609.3	-	4	475	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	IFI27L2_ENST00000556727.1_Missense_Mutation_p.E101Q	NM_032036.2	NP_114425.1	Q9H2X8	I27L2_HUMAN	interferon, alpha-inducible protein 27-like 2	126						integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	8						TCATGTTTCTCTGACTTGAGT	0.488																																																	0													219	206	210					14																	94594153		2203	4300	6503	SO:0001583	missense	0			AF208232	CCDS9920.1	14q32.13	2008-10-08	2008-10-08	2008-10-08		ENSG00000119632			19753	protein-coding gene	gene with protein product		611319	"family with sequence similarity 14, member A"	FAM14A			Standard	NM_032036		Approved	TLH29	uc001ycq.3	Q9H2X8		ENST00000238609.3:c.376G>C	14.37:g.94594153C>G	ENSP00000238609:p.Glu126Gln		Q8TBD7|Q9NYL0	Missense_Mutation	SNP	pfam_IFI6/IFI27	p.E126Q	ENST00000238609.3	37	c.376	CCDS9920.1	14	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324862	0.60634	.	.	ENSG00000119632	ENST00000238609;ENST00000556727	T;T	0.38077	1.16;1.18	4.1	4.1	0.47936	.	.	.	.	.	T	0.36054	0.0953	L	0.29908	0.895	0.21184	N	0.999767	P	0.52316	0.952	P	0.49140	0.601	T	0.17715	-1.0360	9	0.87932	D	0	.	12.5672	0.56316	0.0:1.0:0.0:0.0	.	126	Q9H2X8	I27L2_HUMAN	Q	126;101	ENSP00000238609:E126Q;ENSP00000451717:E101Q	ENSP00000238609:E126Q	E	-	1	0	IFI27L2	93663906	0.077000	0.21312	0.266000	0.24541	0.028000	0.11728	-0.456000	0.06754	2.211000	0.71520	0.563000	0.77884	GAG	IFI27L2	-	NULL	ENSG00000119632		0.488	IFI27L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI27L2	HGNC	protein_coding	OTTHUMT00000412935.1	-	0	121	0	C	NM_032036		94594153	-1	tier1	-	no_errors	ENST00000238609	ensembl	human	known	74_37	missense	7.83	200	17	SNP	0.726	G	G	94594153	C	G	94594153	3	3	17	1	0	0	0	0	1	0	0	0	7541	922	32	5	20	5	IFI27L2	14	94594153	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	4147227	94594153	12755387	189	4975											
SERPINA4	5267	genome.wustl.edu	37	chr14	95033361	95033361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcccaaagacttctatgTtgatgagaacacaacagtcc	14	9	6	12	0	1	3	0	2	1	2	3	4	3	3	2	0	2	1	2	0	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:95033361T>A	ENST00000557004.1	+	3	1125	c.704T>A	c.(703-705)gTt>gAt	p.V235D	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.V235D|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V235D			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	235					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GACTTCTATGTTGATGAGAAC	0.512																																																	0													111	102	105					14																	95033361		2203	4300	6503	SO:0001583	missense	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.704T>A	14.37:g.95033361T>A	ENSP00000450838:p.Val235Asp		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V235D	ENST00000557004.1	37	c.704	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314714	0.60524	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84442	-1.85;-1.85;-1.85	4.44	3.29	0.37713	Serpin domain (3);	0.000000	0.48767	D	0.000172	D	0.93383	0.7890	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.92808	0.6262	10	0.87932	D	0	.	9.2913	0.37789	0.0:0.0864:0.0:0.9136	.	235;235	B2R815;P29622	.;KAIN_HUMAN	D	235	ENSP00000450838:V235D;ENSP00000451172:V235D;ENSP00000298841:V235D	ENSP00000298841:V235D	V	+	2	0	SERPINA4	94103114	0.998000	0.40836	0.008000	0.14137	0.012000	0.07955	4.220000	0.58567	0.673000	0.31224	0.459000	0.35465	GTT	SERPINA4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000100665		0.512	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	-	0	77	0	T	NM_006215		95033361	1	tier1	-	no_errors	ENST00000298841	ensembl	human	known	74_37	missense	10.08	116	13	SNP	0.970	A	A	95033361	T	A	95033361	3	1	17	1	0	0	0	0	1	0	0	0	14136	1725	60	5	710	5	SERPINA4	14	95033361	Missense_Mutation	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09	439208	95033361	12316179	190	4976											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102499768	102499768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaggaatacgccgtcCtgatctcagaggcccaggcc	11	5	12	13	2	1	2	1	1	1	1	3	4	2	4	4	4	1	0	4	4	3	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:102499768C>T	ENST00000360184.4	+	54	10524	c.10360C>T	c.(10360-10362)Ctg>Ttg	p.L3454L	RP11-1017G21.4_ENST00000557551.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3454	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATACGCCGTCCTGATCTCAGA	0.557																																																	0													97	88	91					14																	102499768		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10360C>T	14.37:g.102499768C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L3454	ENST00000360184.4	37	c.10360	CCDS9966.1	14																																																																																			DYNC1H1	-	NULL	ENSG00000197102		0.557	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	27	0	C	NM_001376		102499768	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	18.18	27	6	SNP	1.000	T	T	102499768	C	T	102499768	2	4	17	1	0	0	0	0	0	0	0	1	4855	680	24	3		3	DYNC1H1	14	102499768	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	7466407	102499768	4849772	191	4977											
BTBD6	90135	genome.wustl.edu	37	chr14	105716690	105716690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgtatggctccagctCtgggaaggctgagtacagcg	7	8	16	10	1	1	1	0	1	1	0	2	2	2	2	2	4	3	5	2	4	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr14:105716690C>A	ENST00000392554.3	+	4	1436	c.1139C>A	c.(1138-1140)tCt>tAt	p.S380Y	BRF1_ENST00000379937.2_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000327471.3_Missense_Mutation_p.S305Y|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000440513.3_Intron|BTBD6_ENST00000463376.2_Missense_Mutation_p.S305Y|BRF1_ENST00000446501.2_5'Flank|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.S380Y			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	380						cytoplasm (GO:0005737)				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GGCTCCAGCTCTGGGAAGGCT	0.577																																																	0													65	50	55					14																	105716690		2203	4300	6503	SO:0001583	missense	0			AF353674	CCDS10002.1, CCDS10002.2	14q32.33	2013-01-08			ENSG00000184887	ENSG00000184887		"BTB/POZ domain containing"	19897	protein-coding gene	gene with protein product							Standard	NM_033271		Approved	BDPL	uc010tyq.2	Q96KE9	OTTHUMG00000029887	ENST00000392554.3:c.1139C>A	14.37:g.105716690C>A	ENSP00000376337:p.Ser380Tyr		Q8IVQ7|Q9BR94	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.S380Y	ENST00000392554.3	37	c.1139	CCDS10002.2	14	.	.	.	.	.	.	.	.	.	.	C	3.378	-0.127081	0.06795	.	.	ENSG00000184887	ENST00000536364;ENST00000537513;ENST00000392554;ENST00000327471	T;T;T;T	0.75260	-0.92;-0.89;-0.92;-0.82	5.16	4.22	0.49857	PHR (1);	0.166261	0.53938	D	0.000052	T	0.61350	0.2340	L	0.37630	1.12	0.31018	N	0.718511	B	0.25272	0.122	B	0.30029	0.11	T	0.53732	-0.8397	10	0.02654	T	1	-20.3304	13.0096	0.58724	0.0:0.7477:0.2523:0.0	.	380	Q96KE9	BTBD6_HUMAN	Y	380;380;380;305	ENSP00000443091:S380Y;ENSP00000446223:S380Y;ENSP00000376337:S380Y;ENSP00000329361:S305Y	ENSP00000329361:S305Y	S	+	2	0	BTBD6	104787735	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	5.807000	0.69157	2.392000	0.81423	0.655000	0.94253	TCT	BTBD6	-	pfam_PHR	ENSG00000184887		0.577	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD6	HGNC	protein_coding	OTTHUMT00000074556.4	-	0	20	0	C			105716690	1	tier1	-	no_errors	ENST00000392554	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.996	A	A	105716690	C	A	105716690	3	1	17	1	0	0	0	0	1	0	0	0	1549	913	32	3	1153	3	BTBD6	14	105716690	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3216922	105716690	1632850	192	4978											
RYR3	6263	genome.wustl.edu	37	chr15	34078107	34078107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctctgaacacctcagtctCatcctgggcaacattctgaa	11	10	6	14	0	4	2	2	2	3	0	6	2	5	2	3	1	2	1	3	1	3	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr15:34078107C>T	ENST00000389232.4	+	66	9583	c.9513C>T	c.(9511-9513)ctC>ctT	p.L3171L	RYR3_ENST00000415757.3_Silent_p.L3171L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3171					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTCAGTCTCATCCTGGGCA	0.567																																																	0													153	165	161					15																	34078107		2145	4276	6421	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9513C>T	15.37:g.34078107C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L3171	ENST00000389232.4	37	c.9513	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	33	0	C			34078107	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	14.00	43	7	SNP	1.000	T	T	34078107	C	T	34078107	2	4	17	1	0	0	0	0	0	0	0	1	13815	813	29	3		3	RYR3	15	34078107	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		34078107	68453285	193	4979											
USP50	9101	genome.wustl.edu	37	chr15	50792993	50792993	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggtgactgaattcttgcaGaaagcagtgtagtggccacc	10	10	13	8	0	1	3	0	2	1	1	1	3	1	3	2	2	2	3	2	2	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr15:50792993G>A	ENST00000396444.3	+	0	5403				USP50_ENST00000532404.1_Silent_p.F326F|USP8_ENST00000433963.1_3'UTR|RP11-562A8.4_ENST00000560380.1_RNA|USP50_ENST00000530218.1_5'Flank	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AATTCTTGCAGAAAGCAGTGT	0.408																																																	0													70	66	67					15																	50792993		1881	4113	5994	SO:0001624	3_prime_UTR_variant	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.*1708G>A	15.37:g.50792993G>A			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.F326	ENST00000396444.3	37	c.978	CCDS10137.1	15																																																																																			USP50	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000170236		0.408	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP50	HGNC	protein_coding	OTTHUMT00000254541.1	-	0	34	0	G	NM_005154		50792993	-1	tier1	-	no_errors	ENST00000532404	ensembl	human	known	74_37	silent	7.58	61	5	SNP	1.000	A	A	50792993	G	A	50792993	1	1	17	0	1	0	0	0	0	0	0	0	17131	933	33	3		3	USP50	15	50792993	3'UTR	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	16714886	50792993	51738399	194	4980											
ADPGK	83440	genome.wustl.edu	37	chr15	73048618	73048618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagtctcttcctctggagctCcttgctttgtccctccatca	4	15	7	15	0	3	0	1	0	2	0	8	2	7	1	4	1	2	2	4	1	0	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr15:73048618C>G	ENST00000311669.8	-	5	907	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	ADPGK_ENST00000567733.1_Intron|ADPGK_ENST00000456471.2_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	272	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTCTGGAGCTCCTTGCTTTGT	0.507																																																	0													91	83	86					15																	73048618		1868	4110	5978	SO:0001583	missense	0			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.814G>C	15.37:g.73048618C>G	ENSP00000312250:p.Glu272Gln		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	pfam_ADP_PFK/GK	p.E272Q	ENST00000311669.8	37	c.814	CCDS42057.1	15	.	.	.	.	.	.	.	.	.	.	c	10.94	1.491519	0.26774	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000331065	T	0.46451	0.87	5.31	4.38	0.52667	.	0.095842	0.64402	D	0.000001	T	0.39332	0.1074	L	0.45698	1.435	0.80722	D	1	B;B;B	0.27498	0.021;0.052;0.18	B;B;B	0.29176	0.035;0.051;0.099	T	0.21586	-1.0241	10	0.41790	T	0.15	-17.5721	15.2588	0.73606	0.1416:0.8584:0.0:0.0	.	214;272;272	B4DG35;Q9BRR6;Q9BRR6-2	.;ADPGK_HUMAN;.	Q	272;191;150	ENSP00000312250:E272Q	ENSP00000312250:E272Q	E	-	1	0	ADPGK	70835671	1.000000	0.71417	0.952000	0.39060	0.145000	0.21501	3.902000	0.56310	1.215000	0.43411	-0.181000	0.13052	GAG	ADPGK	-	pfam_ADP_PFK/GK	ENSG00000159322		0.507	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPGK	HGNC	protein_coding	OTTHUMT00000420434.1	-	0	53	0	C	NM_031284		73048618	-1	tier1	-	no_errors	ENST00000311669	ensembl	human	known	74_37	missense	18.18	81	18	SNP	1.000	G	G	73048618	C	G	73048618	3	3	17	1	0	0	0	0	1	0	0	0	330	864	30	5	688	5	ADPGK	15	73048618	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	22255625	73048618	29482774	195	4981											
SGK269	79834	genome.wustl.edu	37	chr15	77407012	77407012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgatctctggggcaaggCgagactggtcccggaggatc	8	9	15	9	2	1	2	0	1	1	1	4	5	2	4	1	6	0	1	1	6	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr15:77407012C>T	ENST00000560626.2	-	7	5202	c.4727G>A	c.(4726-4728)cGc>cAc	p.R1576H	PEAK1_ENST00000312493.4_Missense_Mutation_p.R1576H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGGGCAAGGCGAGACTGGTC	0.522																																																	0													119	117	117					15																	77407012		1905	4108	6013	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4727G>A	15.37:g.77407012C>T	ENSP00000452796:p.Arg1576His		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R1576H	ENST00000560626.2	37	c.4727	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944554	0.92593	.	.	ENSG00000173517	ENST00000312493	T	0.73258	-0.73	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000002	T	0.81861	0.4912	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83086	-0.0135	10	0.87932	D	0	-7.1694	19.3317	0.94293	0.0:1.0:0.0:0.0	.	1576	Q9H792	PEAK1_HUMAN	H	1576	ENSP00000309230:R1576H	ENSP00000309230:R1576H	R	-	2	0	AC087465.1	75194067	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.582000	0.87167	0.561000	0.74099	CGC	PEAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000173517		0.522	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3	-	0	39	0	C			77407012	-1	tier1	-	no_errors	ENST00000312493	ensembl	human	known	74_37	missense	16.92	54	11	SNP	1.000	T	T	77407012	C	T	77407012	3	4	17	1	0	0	0	0	1	0	0	0	14256	768	27	1	517	1	SGK269	15	77407012	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	4358394	77407012	25124380	196	4982											
ACAN	176	genome.wustl.edu	37	chr15	89398787	89398787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccactgcccctggagtagagGacatcagcgggcttccttct	7	9	11	14	1	2	1	1	0	1	1	3	3	3	3	4	3	2	2	4	3	1	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr15:89398787G>A	ENST00000561243.1	+	11	2971	c.2971G>A	c.(2971-2973)Gac>Aac	p.D991N	ACAN_ENST00000439576.2_Missense_Mutation_p.D991N|ACAN_ENST00000559004.1_Missense_Mutation_p.D991N|ACAN_ENST00000352105.7_Missense_Mutation_p.D991N			P16112	PGCA_HUMAN	aggrecan	990	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGAGTAGAGGACATCAGCGG	0.547																																																	0													70	67	68					15																	89398787		1542	3666	5208	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2971G>A	15.37:g.89398787G>A	ENSP00000453342:p.Asp991Asn		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.D991N	ENST00000561243.1	37	c.2971	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633902	0.29068	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.95821	-3.82;-3.82	4.08	3.13	0.36017	.	.	.	.	.	D	0.96861	0.8975	M	0.77820	2.39	0.09310	N	1	D;D	0.71674	0.992;0.998	P;D	0.78314	0.908;0.991	D	0.90193	0.4251	9	0.44086	T	0.13	-14.1381	8.0663	0.30663	0.1169:0.0:0.8831:0.0	.	991;991	E7ENV9;E7EX88	.;.	N	991	ENSP00000387356:D991N;ENSP00000341615:D991N	ENSP00000268134:D991N	D	+	1	0	ACAN	87199791	0.006000	0.16342	0.023000	0.16930	0.008000	0.06430	1.689000	0.37700	2.109000	0.64355	0.501000	0.49751	GAC	ACAN	-	NULL	ENSG00000157766		0.547	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0	26	0	G	NM_001135		89398787	1	tier1	-	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.008	A	A	89398787	G	A	89398787	3	1	17	1	0	0	0	0	1	0	0	0	117	1174	41	3	3013	3	ACAN	15	89398787	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11991775	89398787	13132605	197	4983											
ZNF213	7760	genome.wustl.edu	37	chr16	3190882	3190882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggccacccactcgccGgcgccagttccgggacctgg	4	4	16	17	5	0	0	0	0	0	0	2	1	1	1	6	6	0	1	6	6	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:3190882G>A	ENST00000396878.3	+	6	1389	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	ZNF213_ENST00000574902.1_Missense_Mutation_p.R305Q|ZNF213_ENST00000416391.2_Missense_Mutation_p.R147Q|ZNF213_ENST00000576416.1_Missense_Mutation_p.R305Q	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCCACTCGCCGGCGCCAGTTC	0.761																																																	0													4	7	6					16																	3190882		1817	3697	5514	SO:0001583	missense	0			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.914G>A	16.37:g.3190882G>A	ENSP00000380087:p.Arg305Gln		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R305Q	ENST00000396878.3	37	c.914	CCDS10495.1	16	.	.	.	.	.	.	.	.	.	.	G	7.688	0.690480	0.15039	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.05319	3.48;3.46	4.67	3.7	0.42460	.	0.000000	0.36972	N	0.002320	T	0.05364	0.0142	L	0.32530	0.975	0.31437	N	0.672436	B	0.24882	0.113	B	0.11329	0.006	T	0.13980	-1.0489	10	0.20519	T	0.43	.	11.9939	0.53189	0.0:0.0:0.826:0.174	.	305	O14771	ZN213_HUMAN	Q	305;147	ENSP00000380087:R305Q;ENSP00000403892:R147Q	ENSP00000380087:R305Q	R	+	2	0	ZNF213	3130883	0.000000	0.05858	0.533000	0.28001	0.620000	0.37586	0.412000	0.21131	0.946000	0.37632	0.462000	0.41574	CGG	ZNF213	-	NULL	ENSG00000085644		0.761	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	HGNC	protein_coding	OTTHUMT00000437334.1	-	0	10	0	G	NM_004220		3190882	1	tier1	-	no_errors	ENST00000396878	ensembl	human	known	74_37	missense	23.81	15	5	SNP	0.875	A	A	3190882	G	A	3190882	3	1	17	1	0	0	0	0	1	0	0	0	17817	1116	39	1	932	1	ZNF213	16	3190882	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		3190882	87163871	198	4984											
SMG1	23049	genome.wustl.edu	37	chr16	18823362	18823362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttggtggagtatcagctGatgtagcaagatttttttgg	8	16	13	4	0	1	2	1	1	0	1	1	3	1	3	0	3	3	5	0	3	3	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:18823362G>A	ENST00000446231.2	-	61	11121	c.10709C>T	c.(10708-10710)tCa>tTa	p.S3570L	SMG1_ENST00000389467.3_Missense_Mutation_p.S3571L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3570					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTATCAGCTGATGTAGCAAG	0.458																																																	0													102	93	96					16																	18823362		1914	4133	6047	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10709C>T	16.37:g.18823362G>A	ENSP00000402515:p.Ser3570Leu		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S3571L	ENST00000446231.2	37	c.10712	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	27.5	4.832788	0.91036	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01304	5.03;5.03	5.87	5.87	0.94306	.	0.355680	0.24499	N	0.037996	T	0.01661	0.0053	L	0.29908	0.895	0.50632	D	0.999881	P	0.37466	0.596	B	0.29785	0.107	T	0.73094	-0.4091	10	0.25106	T	0.35	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	3570	Q96Q15	SMG1_HUMAN	L	3570;3571	ENSP00000402515:S3570L;ENSP00000374118:S3571L	ENSP00000374118:S3571L	S	-	2	0	SMG1	18730863	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.417000	0.97391	2.941000	0.99782	0.655000	0.94253	TCA	SMG1	-	NULL	ENSG00000157106		0.458	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0	47	0	G	NM_015092		18823362	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	13.51	96	15	SNP	1.000	A	A	18823362	G	A	18823362	3	1	17	1	0	0	0	0	1	0	0	0	14840	1294	45	3	288	3	SMG1	16	18823362	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	15632480	18823362	71531391	199	4985											
PAPD5	64282	genome.wustl.edu	37	chr16	50261847	50261847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgtatccttggagtcctCtcaggcagttgggaaaatgc	10	11	12	8	0	1	1	1	0	1	1	4	3	3	3	2	3	1	3	2	3	3	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:50261847C>T	ENST00000561678.1	+	10	1597	c.1523C>T	c.(1522-1524)tCt>tTt	p.S508F	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Missense_Mutation_p.S618F|PAPD5_ENST00000357464.3_Missense_Mutation_p.S539F			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	492	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TTGGAGTCCTCTCAGGCAGTT	0.488																																																	0													99	96	97					16																	50261847		1940	4147	6087	SO:0001583	missense	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1523C>T	16.37:g.50261847C>T	ENSP00000455837:p.Ser508Phe		B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.S618F	ENST00000561678.1	37	c.1853		16	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647970	0.67358	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.48836	0.8;0.82	6.17	6.17	0.99709	.	0.452000	0.26453	N	0.024286	T	0.29945	0.0749	N	0.08118	0	0.36852	D	0.887926	P;B	0.45902	0.868;0.435	B;B	0.39805	0.31;0.06	T	0.40346	-0.9568	10	0.62326	D	0.03	.	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	618;492	B4DV38;Q8NDF8	.;PAPD5_HUMAN	F	618;539	ENSP00000396995:S618F;ENSP00000350054:S539F	ENSP00000350054:S539F	S	+	2	0	PAPD5	48819348	0.908000	0.30866	0.936000	0.37596	0.992000	0.81027	2.851000	0.48302	2.941000	0.99782	0.655000	0.94253	TCT	PAPD5	-	NULL	ENSG00000121274		0.488	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1	-	0	54	0	C	NM_022447		50261847	1	tier1	-	no_errors	ENST00000436909	ensembl	human	known	74_37	missense	23.68	87	27	SNP	1.000	T	T	50261847	C	T	50261847	3	4	17	1	0	0	0	0	1	0	0	0	11464	913	32	3	1899	3	PAPD5	16	50261847	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	31438485	50261847	40092906	200	4986											
ADCY7	113	genome.wustl.edu	37	chr16	50345982	50345982	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcttggactgcctatggaaGaagaagttcaagaaggagca	14	7	13	7	1	1	3	1	0	0	3	1	6	1	6	1	3	2	3	1	3	6	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:50345982G>A	ENST00000394697.2	+	21	2824	c.2484G>A	c.(2482-2484)aaG>aaA	p.K828K	ADCY7_ENST00000254235.3_Silent_p.K828K			P51828	ADCY7_HUMAN	adenylate cyclase 7	828					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GCCTATGGAAGAAGAAGTTCA	0.552																																																	0													109	103	105					16																	50345982		2198	4300	6498	SO:0001819	synonymous_variant	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2484G>A	16.37:g.50345982G>A			A0AVA6	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K828	ENST00000394697.2	37	c.2484	CCDS10741.1	16																																																																																			ADCY7	-	NULL	ENSG00000121281		0.552	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0	38	0	G			50345982	1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	silent	6.76	69	5	SNP	1.000	A	A	50345982	G	A	50345982	2	1	17	1	0	0	0	0	0	0	0	1	299	933	33	3		3	ADCY7	16	50345982	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	84135	50345982	40008771	201	4987											
SLC9A5	6553	genome.wustl.edu	37	chr16	67292260	67292260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatacctgagtcagctgctGatgcgacgatcagcctaccg	11	8	10	12	3	2	2	2	2	0	0	2	4	2	2	3	0	6	2	3	0	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:67292260G>A	ENST00000299798.11	+	10	1601	c.1536G>A	c.(1534-1536)ctG>ctA	p.L512L	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	512					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTCAGCTGCTGATGCGACGAT	0.592																																																	0													59	65	63					16																	67292260		2071	4212	6283	SO:0001819	synonymous_variant	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1536G>A	16.37:g.67292260G>A			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L512	ENST00000299798.11	37	c.1536	CCDS42178.1	16																																																																																			SLC9A5	-	tigrfam_NaH_exchanger	ENSG00000135740		0.592	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	-	0	36	0	G			67292260	1	tier1	-	no_errors	ENST00000299798	ensembl	human	known	74_37	silent	13.89	62	10	SNP	1.000	A	A	67292260	G	A	67292260	2	1	17	1	0	0	0	0	0	0	0	1	14762	1277	45	3		3	SLC9A5	16	67292260	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	16946278	67292260	23062493	202	4988											
HSD11B2	3291	genome.wustl.edu	37	chr16	67469707	67469707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggagacattagccgcGtgctagagttcaccaaggcc	12	6	11	12	2	1	2	1	0	0	2	1	3	1	2	4	2	3	2	4	2	4	3	rs1139495		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:67469707G>A	ENST00000326152.5	+	2	574	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	ATP6V0D1_ENST00000567694.1_5'Flank|HSD11B2_ENST00000567684.2_3'UTR	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	148				V -> F (in Ref. 2; AAB48544). {ECO:0000305}.|V -> L (in Ref. 1; AAA91969). {ECO:0000305}.	female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		CATTAGCCGCGTGCTAGAGTT	0.632													G|||	1	0.000199681	0	0	5008	,	,		20400	0		0.001	False		,,,				2504	0																0													56	45	49					16																	67469707		2198	4300	6498	SO:0001583	missense	0			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.442G>A	16.37:g.67469707G>A	ENSP00000316786:p.Val148Met		A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.V148M	ENST00000326152.5	37	c.442	CCDS10837.1	16	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237213	0.22711	.	.	ENSG00000176387	ENST00000326152	D	0.88354	-2.37	5.28	4.33	0.51752	NAD(P)-binding domain (1);	0.421932	0.26665	N	0.023128	D	0.89969	0.6869	L	0.44542	1.39	0.09310	N	0.999998	D	0.54772	0.968	P	0.56823	0.807	D	0.83894	0.0286	10	0.87932	D	0	.	13.0219	0.58794	0.079:0.0:0.921:0.0	.	148	P80365	DHI2_HUMAN	M	148	ENSP00000316786:V148M	ENSP00000316786:V148M	V	+	1	0	HSD11B2	66027208	0.942000	0.31987	0.008000	0.14137	0.615000	0.37417	5.124000	0.64709	1.382000	0.46385	0.591000	0.81541	GTG	HSD11B2	-	pfam_DH_sc/Rdtase_SDR	ENSG00000176387		0.632	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B2	HGNC	protein_coding	OTTHUMT00000268826.3	-	0	17	0	G	NM_000196		67469707	1	tier1	-	no_errors	ENST00000326152	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.208	A	A	67469707	G	A	67469707	3	1	17	1	0	0	0	0	1	0	0	0	7404	1145	40	1	448	1	HSD11B2	16	67469707	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	177447	67469707	22885046	203	4989											
DDX19A	55308	genome.wustl.edu	37	chr16	70390094	70390094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaccaagtggaagtcctGcaacgggatccaaactcccc	14	5	8	14	1	0	0	0	0	0	0	3	2	3	2	5	2	4	1	5	2	5	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:70390094G>A	ENST00000302243.7	+	4	400	c.237G>A	c.(235-237)ctG>ctA	p.L79L	DDX19A_ENST00000417604.2_Silent_p.L79L|RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000562509.1_3'UTR|DDX19A_ENST00000443119.2_5'Flank	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	79	N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGGAAGTCCTGCAACGGGATC	0.498																																																	0													245	224	231					16																	70390094		2198	4300	6498	SO:0001819	synonymous_variant	0			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.237G>A	16.37:g.70390094G>A			B2RPL0|B4DRZ7|Q53FM0	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L79	ENST00000302243.7	37	c.237	CCDS10889.1	16																																																																																			DDX19A	-	NULL	ENSG00000168872		0.498	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	-	0	47	0	G	NM_018332		70390094	1	tier1	-	no_errors	ENST00000302243	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	A	A	70390094	G	A	70390094	2	1	17	1	0	0	0	0	0	0	0	1	4355	1306	46	3		3	DDX19A	16	70390094	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2920387	70390094	19964659	204	4990											
FUK	197258	genome.wustl.edu	37	chr16	70513177	70513177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccctgactgtgcggcgtatGatggatgtcctggcccccca	5	9	12	15	2	0	2	0	2	0	0	1	3	1	3	6	3	1	1	6	3	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:70513177G>C	ENST00000288078.6	+	23	3256	c.3024G>C	c.(3022-3024)atG>atC	p.M1008I	FUK_ENST00000571514.1_Missense_Mutation_p.M499I|FUK_ENST00000378912.2_Missense_Mutation_p.M1014I	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	1008						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGCGGCGTATGATGGATGTCC	0.627																																																	0													45	49	48					16																	70513177		2065	4212	6277	SO:0001583	missense	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.3024G>C	16.37:g.70513177G>C	ENSP00000288078:p.Met1008Ile		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.M1014I	ENST00000288078.6	37	c.3042	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433420	0.43224	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	D;D	0.92446	-3.04;-3.04	4.54	4.54	0.55810	GHMP kinase, C-terminal (1);	0.163732	0.64402	D	0.000003	D	0.82806	0.5117	N	0.25201	0.72	0.80722	D	1	B;B;B	0.17038	0.02;0.016;0.016	B;B;B	0.18871	0.023;0.016;0.016	T	0.74731	-0.3566	10	0.02654	T	1	-17.0181	11.0511	0.47889	0.0847:0.0:0.9153:0.0	.	1014;914;1008	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	I	1008;1014	ENSP00000288078:M1008I;ENSP00000368192:M1014I	ENSP00000288078:M1008I	M	+	3	0	FUK	69070678	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.821000	0.69257	2.356000	0.79943	0.655000	0.94253	ATG	FUK	-	pfam_GHMP_kinase_C_dom	ENSG00000157353		0.627	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2		0	47	0	G	NM_145059		70513177	1			no_errors	ENST00000378912	ensembl	human	known	74_37	missense	7.89	70	6	SNP	1.000	C	C	70513177	G	C	70513177	3	2	17	1	0	0	0	0	1	0	0	0	6120	1290	45	5	3110	5	FUK	16	70513177	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	123083	70513177	19841576	205	4991											
BCAR1	9564	genome.wustl.edu	37	chr16	75298373	75298373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttccaggagagcagaacaGaagagaggaagggcttggca	14	5	15	7	0	0	4	0	0	0	4	1	7	1	5	1	4	2	3	1	4	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:75298373G>C	ENST00000418647.3	-	2	309	c.26C>G	c.(25-27)tCt>tGt	p.S9C	BCAR1_ENST00000546196.1_5'UTR|BCAR1_ENST00000393422.2_Intron|BCAR1_ENST00000420641.3_Intron|BCAR1_ENST00000538440.2_Intron|BCAR1_ENST00000535626.2_Intron	NM_001170714.1	NP_001164185.1	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	0	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGCAGAACAGAAGAGAGGAA	0.582																																																	0													16	18	17					16																	75298373		692	1591	2283	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000418647.3:c.26C>G	16.37:g.75298373G>C	ENSP00000391669:p.Ser9Cys		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.S9C	ENST00000418647.3	37	c.26	CCDS54040.1	16	.	.	.	.	.	.	.	.	.	.	G	7.802	0.713947	0.15306	.	.	ENSG00000050820	ENST00000418647	T	0.34472	1.36	4.08	0.848	0.18966	.	.	.	.	.	T	0.16769	0.0403	N	0.08118	0	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.19943	-1.0290	9	0.72032	D	0.01	.	3.706	0.08401	0.2389:0.2088:0.5523:0.0	.	9	E9PCL5	.	C	9	ENSP00000391669:S9C	ENSP00000391669:S9C	S	-	2	0	BCAR1	73855874	0.029000	0.19370	0.007000	0.13788	0.011000	0.07611	0.715000	0.25822	0.422000	0.26005	0.561000	0.74099	TCT	BCAR1	-	NULL	ENSG00000050820		0.582	BCAR1-005	KNOWN	basic|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000434666.1	-	0	25	0	G	NM_014567		75298373	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.001	C	C	75298373	G	C	75298373	3	2	17	1	0	0	0	0	1	0	0	0	1349	942	33	5	2855	5	BCAR1	16	75298373	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4785196	75298373	15056380	206	4992											
LRRC50	123872	genome.wustl.edu	37	chr16	84199429	84199429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaggggagggtacgcagctGaaaaggaggagagacagcag	14	3	18	6	1	0	2	0	1	0	1	0	6	0	5	0	5	3	4	0	5	4	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:84199429G>A	ENST00000378553.5	+	7	1028	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	DNAAF1_ENST00000334315.5_Missense_Mutation_p.E302K|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	302					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GTACGCAGCTGAAAAGGAGGA	0.517																																																	0													155	152	153					16																	84199429		2200	4300	6500	SO:0001583	missense	0			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"outer row dynein assembly 7 homolog (Chlamydomonas)"	613190	"leucine rich repeat containing 50"	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.904G>A	16.37:g.84199429G>A	ENSP00000367815:p.Glu302Lys		B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.E302K	ENST00000378553.5	37	c.904	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993182	0.74703	.	.	ENSG00000154099	ENST00000334315;ENST00000378553	T;T	0.43294	0.95;1.47	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.80508	2.5	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.67868	-0.5559	10	0.42905	T	0.14	-22.4163	19.113	0.93326	0.0:0.0:1.0:0.0	.	50;302	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	K	302	ENSP00000334593:E302K;ENSP00000367815:E302K	ENSP00000334593:E302K	E	+	1	0	DNAAF1	82756930	1.000000	0.71417	0.991000	0.47740	0.015000	0.08874	7.819000	0.86621	2.615000	0.88500	0.650000	0.86243	GAA	DNAAF1	-	NULL	ENSG00000154099		0.517	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3	-	0	48	0	G	NM_178452		84199429	1	tier1	-	no_errors	ENST00000378553	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	A	A	84199429	G	A	84199429	3	1	17	1	0	0	0	0	1	0	0	0	9044	1291	45	3	930	3	LRRC50	16	84199429	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	8901056	84199429	6155324	207	4993											
GINS2	51659	genome.wustl.edu	37	chr16	85711917	85711917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaagtcccgctggtgttGatctccatcaaggtcaagtt	10	11	11	9	1	3	1	2	1	1	0	5	2	4	2	2	3	0	3	2	3	3	2	rs199530196		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:85711917G>A	ENST00000253462.3	-	5	559	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	153					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CGCTGGTGTTGATCTCCATCA	0.448																																																	0													95	89	91					16																	85711917		2198	4300	6498	SO:0001819	synonymous_variant	0			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.459C>T	16.37:g.85711917G>A			D3DUM5|Q6IAG9	Silent	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.I153	ENST00000253462.3	37	c.459	CCDS10953.1	16																																																																																			GINS2	-	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	ENSG00000131153		0.448	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	-	0	45	0	G	NM_016095		85711917	-1	tier1	-	no_errors	ENST00000253462	ensembl	human	known	74_37	silent	11.43	62	8	SNP	1.000	A	A	85711917	G	A	85711917	2	1	17	1	0	0	0	0	0	0	0	1	6414	1280	45	3		3	GINS2	16	85711917	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1512488	85711917	4642836	208	4994											
CDK10	8558	genome.wustl.edu	37	chr16	89755673	89755673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagctgggacgatgccGgagtgtgaaggagtttgaga	9	10	17	5	2	1	2	1	2	0	1	1	7	1	5	1	3	2	3	1	3	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr16:89755673G>A	ENST00000353379.7	+	2	144	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000331006.8_Intron|RP11-368I7.4_ENST00000567544.1_5'Flank	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	34					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGACGATGCCGGAGTGTGAAG	0.527																																																	0													185	138	154					16																	89755673		2198	4300	6498	SO:0001583	missense	0			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.101G>A	16.37:g.89755673G>A	ENSP00000338673:p.Arg34Gln		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R34Q	ENST00000353379.7	37	c.101	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207232	0.39003	.	.	ENSG00000185324	ENST00000393082;ENST00000353379	T	0.44083	0.93	4.77	4.77	0.60923	Protein kinase-like domain (1);	0.053953	0.64402	D	0.000001	T	0.50017	0.1591	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;P	0.67725	0.953;0.935;0.904	T	0.58284	-0.7663	10	0.87932	D	0	-24.3639	17.8045	0.88598	0.0:0.0:1.0:0.0	.	34;34;34	B7Z319;Q15131;B3KQJ3	.;CDK10_HUMAN;.	Q	5;34	ENSP00000338673:R34Q	ENSP00000338673:R34Q	R	+	2	0	CDK10	88283174	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	8.677000	0.91203	2.202000	0.70862	0.561000	0.74099	CGG	CDK10	-	superfamily_Kinase-like_dom	ENSG00000185324		0.527	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	-	0	63	0	G			89755673	1	tier1	-	no_errors	ENST00000353379	ensembl	human	known	74_37	missense	5.93	111	7	SNP	1.000	A	A	89755673	G	A	89755673	3	1	17	1	0	0	0	0	1	0	0	0	3132	1116	39	1	107	1	CDK10	16	89755673	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4043756	89755673	599080	209	4995											
RILP	8578	genome.wustl.edu	37	chr17	1551189	1551189	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcttccgctgcttcCggacagccaccttcatggcc	5	12	8	16	2	3	1	1	1	2	0	5	2	5	2	5	2	2	2	5	2	0	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:1551189C>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000348987.3_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.R295Q|SCARF1_ENST00000571272.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGCTGCTTCCGGACAGCCAC	0.612																																																	0													168	117	134					17																	1551189		2203	4300	6503	SO:0001631	upstream_gene_variant	0			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551189C>T	Exception_encountered		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_RILP,pfam_JNK/Rab-associated_protein-1_N	p.R295Q	ENST00000263071.4	37	c.884	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043022	0.75732	.	.	ENSG00000167705	ENST00000301336	T	0.43688	0.94	5.6	-2.44	0.06502	.	0.419796	0.21720	N	0.070136	T	0.19846	0.0477	N	0.08118	0	0.20975	N	0.999811	D	0.53151	0.958	B	0.41917	0.37	T	0.37009	-0.9724	10	0.41790	T	0.15	-24.8997	11.2381	0.48953	0.0:0.313:0.0:0.687	.	295	Q96NA2	RILP_HUMAN	Q	295	ENSP00000301336:R295Q	ENSP00000301336:R295Q	R	-	2	0	RILP	1497939	0.026000	0.19158	0.973000	0.42090	0.899000	0.52679	-0.835000	0.04386	-0.245000	0.09625	0.655000	0.94253	CGG	RILP	-	pfam_RILP	ENSG00000167705		0.612	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RILP	HGNC	protein_coding	OTTHUMT00000207081.4	-	0	31	0	C	NM_003693		1551189	-1	tier1	-	no_errors	ENST00000301336	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.966	T	T	1551189	C	T	1551189	1	4	17	0	1	0	0	0	0	0	0	0	13405	652	23	1		1	RILP	17	1551189	5'Flank	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		1551189	79644021	210	4996											
TP53	7157	genome.wustl.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R282W	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	38	0	G	NM_000546		7577094	-1	tier1	rs28934574	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.997	A	A	7577094	G	A	7577094	3	1	17	1	0	0	0	0	1	0	0	0	16429	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6025905	7577094	73618116	211	4997											
MYH13	8735	genome.wustl.edu	37	chr17	10206759	10206759	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgtacttgtgggctcccttCagggcttcagctcccctctt	3	14	9	15	1	3	0	2	0	1	0	6	0	5	0	3	2	2	4	3	2	1	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:10206759C>G	ENST00000418404.3	-	37	5686	c.5523G>C	c.(5521-5523)ctG>ctC	p.L1841L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.L1841L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1841					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGGCTCCCTTCAGGGCTTCAG	0.512																																																	0													155	152	153					17																	10206759		1922	4145	6067	SO:0001819	synonymous_variant	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5523G>C	17.37:g.10206759C>G			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1841	ENST00000418404.3	37	c.5523	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	65	0	C	NM_003802		10206759	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	silent	9.26	98	10	SNP	0.819	G	G	10206759	C	G	10206759	2	3	17	1	0	0	0	0	0	0	0	1	10070	813	29	5		5	MYH13	17	10206759	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	2629665	10206759	70988451	212	4998											
MYH4	4622	genome.wustl.edu	37	chr17	10354724	10354724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcctttgtttttatttCactaagctggtcctctaggg	5	20	7	9	0	3	0	1	0	2	0	5	0	5	0	2	2	1	2	2	2	3	9			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:10354724C>T	ENST00000255381.2	-	28	3894	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1262					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTTTTATTTCACTAAGCTGG	0.408																																																	0													225	193	204					17																	10354724		2203	4300	6503	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3784G>A	17.37:g.10354724C>T	ENSP00000255381:p.Glu1262Lys			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1262K	ENST00000255381.2	37	c.3784	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862270	0.91511	.	.	ENSG00000141048	ENST00000255381	D	0.82526	-1.62	5.62	5.62	0.85841	Myosin tail (1);	0.000000	0.38005	U	0.001849	D	0.91751	0.7391	H	0.95679	3.705	0.80722	D	1	B	0.25007	0.116	B	0.39771	0.309	D	0.90831	0.4716	10	0.87932	D	0	.	20.0359	0.97557	0.0:1.0:0.0:0.0	.	1262	Q9Y623	MYH4_HUMAN	K	1262	ENSP00000255381:E1262K	ENSP00000255381:E1262K	E	-	1	0	MYH4	10295449	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.805000	0.96524	0.655000	0.94253	GAA	MYH4	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000264424		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0	58	0	C	NM_017533		10354724	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	11.63	75	10	SNP	1.000	T	T	10354724	C	T	10354724	3	4	17	1	0	0	0	0	1	0	0	0	10075	835	29	3	2087	3	MYH4	17	10354724	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	147965	10354724	70840486	213	4999											
TOM1L2	146691	genome.wustl.edu	37	chr17	17788081	17788081	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaaaggcatcagcccatGcctgggataatagaaggcct	12	8	11	10	1	1	1	1	0	0	1	2	3	1	2	3	3	2	1	3	3	4	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:17788081G>A	ENST00000379504.3	-	5	451	c.368C>T	c.(367-369)gCa>gTa	p.A123V	TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000535933.1_Splice_Site_p.A123V|TOM1L2_ENST00000581396.1_Splice_Site_p.A73V|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Intron	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	123	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ATCAGCCCATGCCTGGGATAA	0.517																																					Melanoma(192;2505 2909 14455 25269)												0													123	109	114					17																	17788081		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.367-1C>T	17.37:g.17788081G>A			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.A123V	ENST00000379504.3	37	c.368	CCDS42270.1	17	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832301	0.91036	.	.	ENSG00000175662	ENST00000379504;ENST00000318094;ENST00000535933;ENST00000537091	T;T	0.22743	1.94;1.94	5.97	5.97	0.96955	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.046723	0.85682	D	0.000000	T	0.45236	0.1332	M	0.77712	2.385	0.80722	D	1	D;B;D;B	0.67145	0.996;0.24;0.983;0.0	D;B;P;B	0.70016	0.967;0.14;0.746;0.0	T	0.40403	-0.9565	10	0.02654	T	1	-21.7119	20.428	0.99075	0.0:0.0:1.0:0.0	.	73;123;123;73	B7Z8F0;B7Z2L7;Q6ZVM7;Q6ZVM7-2	.;.;TM1L2_HUMAN;.	V	123;73;123;73	ENSP00000368818:A123V;ENSP00000438621:A123V	ENSP00000312860:A73V	A	-	2	0	TOM1L2	17728806	1.000000	0.71417	0.992000	0.48379	0.895000	0.52256	9.408000	0.97327	2.837000	0.97791	0.655000	0.94253	GCA	TOM1L2	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS	ENSG00000175662		0.517	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1		0	46	0	G		Missense_Mutation	17788081	-1			no_errors	ENST00000379504	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	17788081	G	A	17788081	5	1	17	1	0	0	0	0	0	0	1	0	16400	1333	46	3	1199	3	TOM1L2	17	17788081	Splice_Site	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	7433357	17788081	63407129	214	5000											
TBC1D29	26083	genome.wustl.edu	37	chr17	28887700	28887700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggaacagatgttgatGctgataacaagcattgcctt	13	10	12	6	0	0	3	0	2	0	1	0	5	0	4	1	2	5	3	1	2	4	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:28887700G>A	ENST00000580161.1	+	4	2641	c.144G>A	c.(142-144)atG>atA	p.M48I	TBC1D29_ENST00000579181.1_Missense_Mutation_p.M48I|TBC1D29_ENST00000584297.1_Missense_Mutation_p.M48I|RP11-218M11.6_ENST00000582125.1_RNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	48							Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				AGATGTTGATGCTGATAACAA	0.567																																																	0													157	133	141					17																	28887700		2203	4300	6503	SO:0001583	missense	0			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.144G>A	17.37:g.28887700G>A	ENSP00000462799:p.Met48Ile			Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M48I	ENST00000580161.1	37	c.144	CCDS32606.1	17	.	.	.	.	.	.	.	.	.	.	.	11.75	1.730367	0.30684	.	.	ENSG00000197689	ENST00000329040;ENST00000378698	.	.	.	.	.	.	Rab-GAP/TBC domain (1);	.	.	.	.	T	0.34542	0.0901	L	0.54323	1.7	0.20489	N	0.999891	B	0.33000	0.393	B	0.36030	0.216	T	0.25641	-1.0126	6	0.23891	T	0.37	.	.	.	.	.	48	Q9UFV1	TBC29_HUMAN	I	48	.	ENSP00000330052:M48I	M	+	3	0	TBC1D29	25911826	0.899000	0.30636	0.011000	0.14972	0.011000	0.07611	-0.477000	0.06583	0.121000	0.18284	0.123000	0.15791	ATG	TBC1D29	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000266733		0.567	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	HGNC	protein_coding	OTTHUMT00000443632.1	-	0	86	0	G	NM_015594		28887700	1	tier1	-	no_errors	ENST00000579181	ensembl	human	known	74_37	missense	9.89	82	9	SNP	0.997	A	A	28887700	G	A	28887700	3	1	17	1	0	0	0	0	1	0	0	0	15665	1319	46	3	154	3	TBC1D29	17	28887700	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	11099619	28887700	52307510	215	5001											
PSMD11	5717	genome.wustl.edu	37	chr17	30806325	30806325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcatcagcacacacttGgccaagttgtatgataactt	13	11	6	11	0	2	1	2	1	0	0	2	1	2	1	2	1	2	3	2	1	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:30806325G>T	ENST00000261712.3	+	10	1232	c.969G>T	c.(967-969)ttG>ttT	p.L323F	PSMD11_ENST00000457654.2_Missense_Mutation_p.L323F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	323	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome assembly (GO:0043248)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stem cell differentiation (GO:0048863)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GCACACACTTGGCCAAGTTGT	0.493																																					Ovarian(130;1038 1716 9294 11987 19279)												0													156	148	150					17																	30806325		2203	4300	6503	SO:0001583	missense	0			AB003102	CCDS11272.1	17q12	2008-05-22			ENSG00000108671	ENSG00000108671		"Proteasome (prosome, macropain) subunits"	9556	protein-coding gene	gene with protein product		604449				9426256, 9119060	Standard	NM_001270482		Approved	S9, p44.5, MGC3844, Rpn6	uc010cta.2	O00231	OTTHUMG00000132811	ENST00000261712.3:c.969G>T	17.37:g.30806325G>T	ENSP00000261712:p.Leu323Phe		A8K3I7|E1P663|O00495|Q53FT5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.L323F	ENST00000261712.3	37	c.969	CCDS11272.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.52|15.52	2.858168|2.858168	0.51376|0.51376	.|.	.|.	ENSG00000108671|ENSG00000108671	ENST00000457654|ENST00000261712	T|T	0.42513|0.81247	0.97|-1.47	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.81178|0.81178	0.4768|0.4768	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|B	.|0.32160	.|0.358	.|B	.|0.42798	.|0.398	T|T	0.76594|0.76594	-0.2902|-0.2902	6|10	.|0.26408	.|T	.|0.33	-2.7484|-2.7484	16.511|16.511	0.84284|0.84284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|323	.|O00231	.|PSD11_HUMAN	C|F	61|323	ENSP00000393185:G61C|ENSP00000261712:L323F	.|ENSP00000261712:L323F	G|L	+|+	1|3	0|2	PSMD11|PSMD11	27830438|27830438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.681000|7.681000	0.84073|0.84073	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GGC|TTG	PSMD11	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000108671		0.493	PSMD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD11	HGNC	protein_coding	OTTHUMT00000256252.2	-	0	44	0	G	NM_002815		30806325	1	tier1	-	no_errors	ENST00000261712	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	30806325	G	T	30806325	3	4	17	1	0	0	0	0	1	0	0	0	12736	1339	47	3	1007	3	PSMD11	17	30806325	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1918625	30806325	50388885	216	5002											
C17orf78	284099	genome.wustl.edu	37	chr17	35746184	35746184	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattttctcccttcagtatCaatgcctaggagccaggaag	10	12	8	11	0	4	0	3	0	1	0	5	2	4	2	3	2	2	1	3	2	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:35746184C>T	ENST00000300618.4	+	6	687	c.637C>T	c.(637-639)Caa>Taa	p.Q213*	RP11-378E13.3_ENST00000592238.1_RNA|ACACA_ENST00000589665.1_Intron|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S132L	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	213						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				CCTTCAGTATCAATGCCTAGG	0.488																																																	0													39	39	39					17																	35746184		1929	4147	6076	SO:0001587	stop_gained	0			BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.637C>T	17.37:g.35746184C>T	ENSP00000300618:p.Gln213*		Q8N8D2	Nonsense_Mutation	SNP	NULL	p.Q213*	ENST00000300618.4	37	c.637	CCDS45655.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.81|19.81	3.896325|3.896325	0.72639|0.72639	.|.	.|.	ENSG00000167230|ENSG00000167230	ENST00000300618|ENST00000321564	.|.	.|.	.|.	4.64|4.64	2.49|2.49	0.30216|0.30216	.|.	1.232610|.	0.05762|.	N|.	0.605139|.	.|T	.|0.28532	.|0.0706	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.16802	.|0.019	.|B	.|0.17433	.|0.018	.|T	.|0.15492	.|-1.0435	.|7	0.48119|0.41790	T|T	0.1|0.15	0.7909|0.7909	6.0203|6.0203	0.19625|0.19625	0.0:0.7054:0.1919:0.1028|0.0:0.7054:0.1919:0.1028	.|.	.|132	.|Q8N4C9-2	.|.	X|L	213|132	.|.	ENSP00000300618:Q213X|ENSP00000318689:S132L	Q|S	+|+	1|2	0|0	C17orf78|C17orf78	32820297|32820297	0.016000|0.016000	0.18221|0.18221	0.067000|0.067000	0.19924|0.19924	0.568000|0.568000	0.35870|0.35870	0.529000|0.529000	0.23019|0.23019	1.327000|1.327000	0.45338|0.45338	0.555000|0.555000	0.69702|0.69702	CAA|TCA	C17orf78	-	NULL	ENSG00000167230		0.488	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C17orf78	HGNC	protein_coding	OTTHUMT00000451570.2	-	0	34	0	C	NM_173625		35746184	1	tier1	-	no_errors	ENST00000300618	ensembl	human	known	74_37	nonsense	21.82	43	12	SNP	0.076	T	T	35746184	C	T	35746184	4	4	17	1	0	0	0	0	0	1	0	0	1889	827	29	3	659	3	C17orf78	17	35746184	Nonsense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	4939859	35746184	45449026	217	5003											
KRT28	162605	genome.wustl.edu	37	chr17	38948703	38948703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggaaccctttgttctgtCttgccgttggtcattttaga	8	16	9	8	1	3	1	1	0	2	1	3	2	3	2	2	2	2	2	2	2	3	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:38948703C>G	ENST00000306658.7	-	8	1436	c.1371G>C	c.(1369-1371)aaG>aaC	p.K457N		NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTTGTTCTGTCTTGCCGTTGG	0.358																																					Melanoma(19;789 869 15380 26882 39836)												0													129	117	121					17																	38948703		2202	4300	6502	SO:0001583	missense	0			AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"-", "Intermediate filaments type I, keratins (acidic)"	30842	protein-coding gene	gene with protein product			"keratin 25D"	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.1371G>C	17.37:g.38948703C>G	ENSP00000305263:p.Lys457Asn			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K457N	ENST00000306658.7	37	c.1371	CCDS11376.1	17	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275792	0.59649	.	.	ENSG00000173908	ENST00000306658	D	0.82803	-1.65	6.06	1.77	0.24775	.	0.191054	0.36665	N	0.002472	T	0.74291	0.3697	L	0.47716	1.5	0.31809	N	0.627428	P	0.42078	0.77	B	0.41440	0.357	T	0.74665	-0.3589	10	0.54805	T	0.06	.	4.3758	0.11270	0.1641:0.5943:0.0:0.2417	.	457	Q7Z3Y7	K1C28_HUMAN	N	457	ENSP00000305263:K457N	ENSP00000305263:K457N	K	-	3	2	KRT28	36202229	0.015000	0.18098	0.982000	0.44146	0.936000	0.57629	-0.113000	0.10774	0.837000	0.34925	0.644000	0.83932	AAG	KRT28	-	NULL	ENSG00000173908		0.358	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT28	HGNC	protein_coding	OTTHUMT00000257201.2	-	0	48	0	C	NM_181535		38948703	-1	tier1	-	no_errors	ENST00000306658	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.962	G	G	38948703	C	G	38948703	3	3	17	1	0	0	0	0	1	0	0	0	8492	912	32	5	27	5	KRT28	17	38948703	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3202519	38948703	42246507	218	5004											
KRT9	3857	genome.wustl.edu	37	chr17	39723652	39723652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccatggctgcctccaCttcctcccctggacccactt	5	10	5	21	0	0	0	0	0	0	0	4	1	4	1	8	2	1	1	8	2	0	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:39723652C>T	ENST00000246662.4	-	7	1810	c.1745G>A	c.(1744-1746)aGt>aAt	p.S582N	KRT9_ENST00000588431.1_Missense_Mutation_p.S349N	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	582	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gctgcctccacttcctcccct	0.602																																																	0													199	154	169					17																	39723652		2203	4298	6501	SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1745G>A	17.37:g.39723652C>T	ENSP00000246662:p.Ser582Asn		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.S582N	ENST00000246662.4	37	c.1745	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225312	0.22457	.	.	ENSG00000171403	ENST00000246662	T	0.81247	-1.47	2.99	2.99	0.34606	.	0.687661	0.11962	N	0.512678	D	0.82825	0.5121	L	0.32530	0.975	0.26208	N	0.979349	D	0.57571	0.98	D	0.70227	0.968	T	0.71347	-0.4620	10	0.87932	D	0	.	9.5554	0.39334	0.0:1.0:0.0:0.0	.	582	P35527	K1C9_HUMAN	N	582	ENSP00000246662:S582N	ENSP00000246662:S582N	S	-	2	0	KRT9	36977178	1.000000	0.71417	0.984000	0.44739	0.841000	0.47740	2.421000	0.44688	1.668000	0.50843	0.542000	0.68232	AGT	KRT9	-	NULL	ENSG00000171403		0.602	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	-	0	101	0	C	NM_000226		39723652	-1	tier1	-	no_errors	ENST00000246662	ensembl	human	known	74_37	missense	12.44	176	25	SNP	0.996	T	T	39723652	C	T	39723652	3	4	17	1	0	0	0	0	1	0	0	0	8528	565	20	3	130	3	KRT9	17	39723652	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	774949	39723652	41471558	219	5005											
C17orf104	284071	genome.wustl.edu	37	chr17	42743838	42743838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaaaccaaaaggccaataGatacagtcatctctcagcaa	18	6	6	11	0	3	2	2	0	1	2	4	2	3	2	2	1	3	1	2	1	7	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:42743838G>A	ENST00000409122.2	+	5	701	c.559G>A	c.(559-561)Gat>Aat	p.D187N	C17orf104_ENST00000409464.1_Missense_Mutation_p.D21N|C17orf104_ENST00000359945.3_Missense_Mutation_p.D187N	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	187										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AAGGCCAATAGATACAGTCAT	0.398																																																	0													69	70	69					17																	42743838		1326	2309	3635	SO:0001583	missense	0				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.559G>A	17.37:g.42743838G>A	ENSP00000386452:p.Asp187Asn		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	NULL	p.D187N	ENST00000409122.2	37	c.559	CCDS45703.2	17	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225668	0.58668	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000432494;ENST00000456912;ENST00000409464	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.93	5.93	0.95920	.	.	.	.	.	T	0.38878	0.1057	N	0.22421	0.69	0.32134	N	0.586358	D;D;D	0.56035	0.974;0.974;0.974	P;P;P	0.56343	0.796;0.796;0.796	T	0.20940	-1.0260	9	0.30854	T	0.27	-21.3029	20.3465	0.98790	0.0:0.0:1.0:0.0	.	187;187;21	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	N	187;187;21;21;21	ENSP00000353028:D187N;ENSP00000386452:D187N;ENSP00000399809:D21N;ENSP00000397957:D21N;ENSP00000386586:D21N	ENSP00000353028:D187N	D	+	1	0	C17orf104	40099364	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.093000	0.64517	2.798000	0.96311	0.655000	0.94253	GAT	C17orf104	-	NULL	ENSG00000180336		0.398	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000329171.2		0	23	0	G	NM_001145080		42743838	1			no_errors	ENST00000409122	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	42743838	G	A	42743838	3	1	17	1	0	0	0	0	1	0	0	0	1856	942	33	3	577	3	C17orf104	17	42743838	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	3020186	42743838	38451372	220	5006											
EME1	146956	genome.wustl.edu	37	chr17	48452978	48452978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcatcatgtgactggaaaAagccctttccaaagatccct	12	10	8	11	0	1	2	1	1	0	1	3	3	3	3	3	1	2	1	3	1	3	1	rs76993288|rs36080231|rs558756129|rs3060668	byFrequency	TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:48452978A>C	ENST00000338165.4	+	2	491	c.409A>C	c.(409-411)Aag>Cag	p.K137Q	MRPL27_ENST00000507088.1_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.K137Q|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000503633.1_5'Flank|EME1_ENST00000393271.2_Missense_Mutation_p.K137Q|MRPL27_ENST00000442592.3_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	137					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGACTGGAAAAAGCCCTTTCC	0.473								Direct reversal of damage;Homologous recombination																																									0													77	81	80					17																	48452978		2203	4300	6503	SO:0001583	missense	0			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.409A>C	17.37:g.48452978A>C	ENSP00000339897:p.Lys137Gln		Q96N62	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.K137Q	ENST00000338165.4	37	c.409	CCDS11565.1	17	.	.	.	.	.	.	.	.	.	.	A	10.79	1.448556	0.26074	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.10573	2.87;2.86;2.86	4.58	1.04	0.20106	.	0.639993	0.14457	N	0.318426	T	0.05914	0.0154	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.28850	0.225;0.144	B;B	0.20955	0.032;0.014	T	0.37314	-0.9711	10	0.21540	T	0.41	-21.2574	4.6392	0.12540	0.6446:0.1673:0.1881:0.0	.	137;137	Q96AY2-2;Q96AY2	.;EME1_HUMAN	Q	137	ENSP00000339897:K137Q;ENSP00000376952:K137Q;ENSP00000421700:K137Q	ENSP00000339897:K137Q	K	+	1	0	EME1	45807977	0.000000	0.05858	0.932000	0.37286	0.879000	0.50718	0.151000	0.16283	0.788000	0.33755	0.533000	0.62120	AAG	EME1	-	NULL	ENSG00000154920		0.473	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EME1	HGNC	protein_coding	OTTHUMT00000367118.3		0	36	0	A	NM_152463		48452978	1			no_errors	ENST00000393271	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.140	C	C	48452978	A	C	48452978	3	2	17	1	0	0	0	0	1	0	0	0	5104	15	1	4	411	4	EME1	17	48452978	Missense_Mutation	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09	5709140	48452978	32742232	221	5007											
SPAG9	9043	genome.wustl.edu	37	chr17	49197792	49197792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttgtcgtcccgcagcagctCcagctccacctggtgctcct	4	10	10	17	2	0	0	0	0	0	0	5	0	4	0	5	1	4	6	5	1	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:49197792C>G	ENST00000262013.7	-	1	434	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	SPAG9_ENST00000357122.4_Missense_Mutation_p.E76Q|SPAG9_ENST00000505279.1_Missense_Mutation_p.E76Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	76					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGCAGCAGCTCCAGCTCCACC	0.667																																																	0													46	37	40					17																	49197792		2203	4300	6503	SO:0001583	missense	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.226G>C	17.37:g.49197792C>G	ENSP00000262013:p.Glu76Gln		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.E76Q	ENST00000262013.7	37	c.226	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940725	0.92526	.	.	ENSG00000008294	ENST00000262013;ENST00000505279;ENST00000357122;ENST00000546269	T;T;T	0.48201	0.82;0.82;0.82	4.19	3.19	0.36642	JNK/Rab-associated protein-1, N-terminal (1);	0.000000	0.64402	U	0.000003	T	0.64472	0.2601	M	0.64997	1.995	0.46774	D	0.999191	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.993;1.0;0.999	T	0.67933	-0.5542	10	0.87932	D	0	-8.9148	13.6399	0.62243	0.1558:0.8442:0.0:0.0	.	76;76;76	O60271-2;O60271;O60271-4	.;JIP4_HUMAN;.	Q	76	ENSP00000262013:E76Q;ENSP00000426900:E76Q;ENSP00000349636:E76Q	ENSP00000262013:E76Q	E	-	1	0	SPAG9	46552791	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.312000	0.65792	0.854000	0.35336	0.449000	0.29647	GAG	SPAG9	-	pfam_JNK/Rab-associated_protein-1_N	ENSG00000008294		0.667	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2		0	49	0	C	NM_003971		49197792	-1			no_errors	ENST00000262013	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	G	G	49197792	C	G	49197792	3	3	17	1	0	0	0	0	1	0	0	0	15032	864	30	5	3859	5	SPAG9	17	49197792	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	744814	49197792	31997418	222	5008											
INTS2	57508	genome.wustl.edu	37	chr17	59949628	59949628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactttagcaaaatttacctGagcggccagtaatgcatttt	12	14	7	8	1	0	1	0	1	0	0	0	1	0	1	2	1	5	3	2	1	6	8			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:59949628G>C	ENST00000444766.3	-	20	2875	c.2800C>G	c.(2800-2802)Cag>Gag	p.Q934E	Y_RNA_ENST00000365491.1_RNA|INTS2_ENST00000251334.6_Missense_Mutation_p.Q926E	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	934					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAATTTACCTGAGCGGCCAGT	0.393																																																	0													65	57	60					17																	59949628		1816	4076	5892	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2800C>G	17.37:g.59949628G>C	ENSP00000414237:p.Gln934Glu		Q9ULD3	Missense_Mutation	SNP	NULL	p.Q934E	ENST00000444766.3	37	c.2800	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541214	0.85917	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.62105	0.05	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.76170	2.325	0.80722	D	1	P	0.43578	0.811	P	0.57960	0.83	T	0.76364	-0.2986	9	.	.	.	-7.3251	18.077	0.89430	0.0:0.0:1.0:0.0	.	934	Q9H0H0	INT2_HUMAN	E	934;933	ENSP00000414237:Q934E	.	Q	-	1	0	INTS2	57304410	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.887000	0.92456	2.575000	0.86900	0.552000	0.68991	CAG	INTS2	-	NULL	ENSG00000108506		0.393	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1		0	46	0	G	NM_020748		59949628	-1			no_errors	ENST00000444766	ensembl	human	known	74_37	missense	14.29	60	10	SNP	1.000	C	C	59949628	G	C	59949628	3	2	17	1	0	0	0	0	1	0	0	0	7805	1299	45	5	838	5	INTS2	17	59949628	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	10751836	59949628	21245582	223	5009											
TEX2	55852	genome.wustl.edu	37	chr17	62290620	62290620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcacttgaagataaggCtttgggcctatggctgccac	10	10	12	9	0	0	3	0	2	0	1	0	3	0	3	2	3	2	3	2	3	4	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:62290620C>A	ENST00000583097.1	-	2	1130	c.958G>T	c.(958-960)Gcc>Tcc	p.A320S	TEX2_ENST00000258991.3_Missense_Mutation_p.A320S|TEX2_ENST00000584379.1_Missense_Mutation_p.A320S			Q8IWB9	TEX2_HUMAN	testis expressed 2	320					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GAAGATAAGGCTTTGGGCCTA	0.433																																																	0													55	56	55					17																	62290620		2203	4300	6503	SO:0001583	missense	0			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"transmembrane protein 96"		"testis expressed sequence 2"			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.958G>T	17.37:g.62290620C>A	ENSP00000462665:p.Ala320Ser		Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	pfam_DUF2404	p.A320S	ENST00000583097.1	37	c.958		17	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417204	0.25552	.	.	ENSG00000136478	ENST00000258991	T	0.52295	0.67	6.03	6.03	0.97812	.	0.169730	0.52532	D	0.000063	T	0.45418	0.1341	L	0.54323	1.7	0.40780	D	0.983169	P;P	0.39352	0.669;0.539	B;B	0.34824	0.19;0.093	T	0.34700	-0.9818	10	0.22109	T	0.4	-18.4586	20.5568	0.99304	0.0:1.0:0.0:0.0	.	320;320	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	S	320	ENSP00000258991:A320S	ENSP00000258991:A320S	A	-	1	0	TEX2	59644352	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.025000	0.49681	2.861000	0.98227	0.655000	0.94253	GCC	TEX2	-	NULL	ENSG00000136478		0.433	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1		0	22	0	C	NM_018469		62290620	-1			no_errors	ENST00000258991	ensembl	human	known	74_37	missense	8.11	33	3	SNP	1.000	A	A	62290620	C	A	62290620	3	1	17	1	0	0	0	0	1	0	0	0	15828	797	28	3	2490	3	TEX2	17	62290620	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	2340992	62290620	18904590	224	5010											
C17orf77	146723	genome.wustl.edu	37	chr17	72588749	72588749	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtgcagggagaggagcacTttgggaagaccacagtgcac	12	5	16	8	0	0	2	0	0	0	2	0	6	0	4	1	3	3	3	1	3	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:72588749T>A	ENST00000392620.1	+	3	926	c.564T>A	c.(562-564)acT>acA	p.T188T	CD300LD_ENST00000375352.1_5'Flank|C17orf77_ENST00000328023.2_Silent_p.T188T	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	188						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGAGGAGCACTTTGGGAAGAC	0.592																																																	0													92	84	87					17																	72588749		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.564T>A	17.37:g.72588749T>A				Silent	SNP	NULL	p.T188	ENST00000392620.1	37	c.564	CCDS32721.1	17																																																																																			C17orf77	-	NULL	ENSG00000182352		0.592	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf77	HGNC	protein_coding	OTTHUMT00000145090.2	-	0	33	0	T	NM_152460		72588749	1	tier1	-	no_errors	ENST00000328023	ensembl	human	known	74_37	silent	14.29	42	7	SNP	0.000	A	A	72588749	T	A	72588749	2	1	17	1	0	0	0	0	0	0	0	1	1888	1596	56	5		5	C17orf77	17	72588749	Silent	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09	10298129	72588749	8606461	225	5011											
DNAH17	9489	genome.wustl.edu	37	chr17	76423160	76423160	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaagtctccggaatcttCtccaggatgtcgtccagcac	9	11	9	12	2	3	1	0	1	3	0	7	3	4	3	3	2	1	1	3	2	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:76423160C>G	ENST00000262764.6	+	0	2201				DNAH17_ENST00000585328.1_Missense_Mutation_p.E4201D|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.E4229D	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CCGGAATCTTCTCCAGGATGT	0.567																																					Esophageal Squamous(45;182 1126 10685 43198)												0													42	33	36					17																	76423160		2202	4297	6499	SO:0001628	intergenic_variant	0				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76423160C>G			B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.E4229D	ENST00000262764.6	37	c.12687	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688966	0.29962	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09630	2.96	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000037	T	0.09069	0.0224	L	0.42487	1.325	0.43122	D	0.994845	B	0.20459	0.045	B	0.26969	0.075	T	0.16158	-1.0412	10	0.10636	T	0.68	.	7.7802	0.29060	0.1627:0.7558:0.0:0.0816	.	4201	E7EUM8	.	D	4201;4229	ENSP00000374490:E4229D	ENSP00000300671:E4201D	E	-	3	2	DNAH17	73934755	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	1.126000	0.31344	2.319000	0.78375	0.655000	0.94253	GAG	DNAH17	-	pfam_Dynein_heavy_dom	ENSG00000187775		0.567	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000437301.1	-	0	29	0	C	NM_024419		76423160	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	G	G	76423160	C	G	76423160	1	3	17	0	1	0	0	0	0	0	0	0	4615	912	32	5		5	DNAH17	17	76423160	IGR	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3834411	76423160	4772050	226	5012											
TMEM105	284186	genome.wustl.edu	37	chr17	79288254	79288254	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggacgccctcctcaccttGagaagcatcgggctcagcca	10	6	10	15	2	2	1	2	1	0	1	4	3	3	2	4	2	2	2	4	2	2	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr17:79288254G>C	ENST00000332900.1	-	2	558	c.9C>G	c.(7-9)ctC>ctG	p.L3L		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	3						integral component of membrane (GO:0016021)				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TCCTCACCTTGAGAAGCATCG	0.662																																																	0													44	35	38					17																	79288254		2199	4299	6498	SO:0001819	synonymous_variant	0			AK096111	CCDS11781.1	17q25.3	2008-04-21	2008-04-21	2008-04-21		ENSG00000185332			26794	protein-coding gene	gene with protein product							Standard	NM_178520		Approved	FLJ38792	uc002kad.2	Q8N8V8		ENST00000332900.1:c.9C>G	17.37:g.79288254G>C				Silent	SNP	NULL	p.L3	ENST00000332900.1	37	c.9	CCDS11781.1	17																																																																																			TMEM105	-	NULL	ENSG00000185332		0.662	TMEM105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM105	HGNC	protein_coding	OTTHUMT00000439607.1	-	0	51	0	G	NM_178520		79288254	-1	tier1	-	no_errors	ENST00000332900	ensembl	human	known	74_37	silent	16.09	73	14	SNP	0.014	C	C	79288254	G	C	79288254	2	2	17	1	0	0	0	0	0	0	0	1	16066	1277	45	5		5	TMEM105	17	79288254	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2865094	79288254	1906956	227	5013											
KIAA0802	23255	genome.wustl.edu	37	chr18	8813075	8813075	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcaccagaagctcctGgcagacagtcacagcctggt	10	6	13	12	0	1	2	1	0	0	2	2	3	2	2	3	3	3	3	3	3	1	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr18:8813075G>C	ENST00000306329.11	+	10	3660	c.3660G>C	c.(3658-3660)ctG>ctC	p.L1220L	SOGA2_ENST00000518815.1_Silent_p.L254L|SOGA2_ENST00000306285.7_Silent_p.L254L|SOGA2_ENST00000400050.3_Silent_p.L860L|SOGA2_ENST00000359865.3_Silent_p.L901L|SOGA2_ENST00000517570.1_Silent_p.L860L																							AGAAGCTCCTGGCAGACAGTC	0.572																																																	0													55	53	54					18																	8813075		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000306329.11:c.3660G>C	18.37:g.8813075G>C				Silent	SNP	pfam_SOGA	p.L901	ENST00000306329.11	37	c.2703		18	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193463	0.22037	.	.	ENSG00000168502	ENST00000519823	.	.	.	4.96	-0.896	0.10557	.	.	.	.	.	T	0.49983	0.1589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38779	-0.9645	4	.	.	.	-7.2696	5.1749	0.15129	0.0736:0.1061:0.3925:0.4277	.	.	.	.	R	35	.	.	G	+	1	0	CCDC165	8803075	0.616000	0.27035	0.951000	0.38953	0.953000	0.61014	-0.300000	0.08243	-0.031000	0.13781	0.462000	0.41574	GGC	SOGA2	-	NULL	ENSG00000168502		0.572	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1		0	16	0	G			8813075	1			no_errors	ENST00000359865	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.998	C	C	8813075	G	C	8813075	2	2	17	1	0	0	0	0	0	0	0	1	8221	1335	47	5		5	KIAA0802	18	8813075	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		8813075	69264173	228	5014											
SETBP1	26040	genome.wustl.edu	37	chr18	42532279	42532279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcggattaattttgatCactattacccggtgccatat	9	18	6	8	2	1	1	1	1	0	0	2	2	1	2	2	2	2	0	2	2	4	8			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr18:42532279C>T	ENST00000282030.5	+	4	3270	c.2974C>T	c.(2974-2976)Cac>Tac	p.H992Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	992						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TAATTTTGATCACTATTACCC	0.448									Schinzel-Giedion syndrome																																								0													125	121	123					18																	42532279		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2974C>T	18.37:g.42532279C>T	ENSP00000282030:p.His992Tyr		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.H992Y	ENST00000282030.5	37	c.2974	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617663	0.46736	.	.	ENSG00000152217	ENST00000282030	D	0.89939	-2.59	5.91	5.91	0.95273	.	0.050711	0.85682	D	0.000000	D	0.88202	0.6373	N	0.19112	0.55	0.45490	D	0.998451	P	0.48589	0.912	P	0.51742	0.678	D	0.88921	0.3366	10	0.59425	D	0.04	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	992	Q9Y6X0	SETBP_HUMAN	Y	992	ENSP00000282030:H992Y	ENSP00000282030:H992Y	H	+	1	0	SETBP1	40786277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.857000	0.62939	2.808000	0.96608	0.655000	0.94253	CAC	SETBP1	-	NULL	ENSG00000152217		0.448	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	59	0	C	NM_001130110		42532279	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	T	T	42532279	C	T	42532279	3	4	17	1	0	0	0	0	1	0	0	0	14174	826	29	3	3177	3	SETBP1	18	42532279	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	33719204	42532279	35544969	229	5015											
DCC	1630	genome.wustl.edu	37	chr18	50976874	50976874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcttttcccagagccGccaattggacaaatgcaccc	9	10	7	15	1	1	1	0	0	1	1	3	2	3	2	5	1	2	1	5	1	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr18:50976874G>A	ENST00000442544.2	+	23	3850	c.3234G>A	c.(3232-3234)ccG>ccA	p.P1078P	DCC_ENST00000581580.1_Silent_p.P713P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1078					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCCCAGAGCCGCCAATTGGAC	0.483																																																	0													83	75	77					18																	50976874		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3234G>A	18.37:g.50976874G>A				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1078	ENST00000442544.2	37	c.3234	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C	ENSG00000187323		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	65	0	G	NM_005215		50976874	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	17.12	92	19	SNP	0.974	A	A	50976874	G	A	50976874	2	1	17	1	0	0	0	0	0	0	0	1	4291	1074	38	1		1	DCC	18	50976874	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	8444595	50976874	27100374	230	5016											
PTBP1	5725	genome.wustl.edu	37	chr19	806462	806462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggccatcccctcggCggcggcggcagctgcggcgg	2	4	16	19	6	0	0	0	0	0	0	2	0	1	0	5	7	2	2	5	7	0	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:806462C>T	ENST00000349038.4	+	9	1020	c.947C>T	c.(946-948)gCg>gTg	p.A316V	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.A342V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.A335V	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	316	Poly-Ala.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCCCTCGGCGGCGGCGGCA	0.692																																																	0													14	16	15					19																	806462		2187	4262	6449	SO:0001583	missense	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.947C>T	19.37:g.806462C>T	ENSP00000014112:p.Ala316Val		Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.A342V	ENST00000349038.4	37	c.1025	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	C	7.291	0.611140	0.14066	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.48522	0.81;0.81;1.12	4.29	2.14	0.27477	.	0.270660	0.34200	N	0.004179	T	0.42245	0.1194	M	0.62016	1.91	0.80722	D	1	B;P;P	0.47350	0.174;0.775;0.894	B;B;B	0.41946	0.007;0.221;0.371	T	0.20840	-1.0263	10	0.32370	T	0.25	-20.9565	9.3662	0.38226	0.0:0.8234:0.0:0.1766	.	316;335;342	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	342;335;316	ENSP00000349428:A342V;ENSP00000408096:A335V;ENSP00000014112:A316V	ENSP00000014112:A316V	A	+	2	0	PTBP1	757462	1.000000	0.71417	0.005000	0.12908	0.023000	0.10783	5.033000	0.64146	0.293000	0.22520	-0.251000	0.11542	GCG	PTBP1	-	tigrfam_HnRNP-L_PTB	ENSG00000011304		0.692	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	-	0	52	0	C			806462	1	tier1	-	no_errors	ENST00000356948	ensembl	human	known	74_37	missense	10.61	59	7	SNP	0.382	T	T	806462	C	T	806462	3	4	17	1	0	0	0	0	1	0	0	0	12767	768	27	1	1063	1	PTBP1	19	806462	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		806462	58322521	231	5017											
PNPLA6	57192	genome.wustl.edu	37	chr19	7600729	7600729	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctcgggggcgaaggtggcgGagagggatgggttccaggac	7	5	21	8	3	0	1	0	0	0	1	2	5	1	3	2	8	0	1	2	8	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:7600729G>C	ENST00000264079.6	+	0	2082				PNPLA6_ENST00000414982.3_Missense_Mutation_p.E28Q|PNPLA6_ENST00000221249.6_Intron|PNPLA6_ENST00000600737.1_Missense_Mutation_p.E19Q|PNPLA6_ENST00000545201.2_Intron|CTD-2207O23.10_ENST00000601870.1_Intron|PNPLA6_ENST00000450331.3_Intron	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1						calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GAAGGTGGCGGAGAGGGATGG	0.687																																																	0													56	60	59					19																	7600729		692	1591	2283	SO:0001628	intergenic_variant	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1			19.37:g.7600729G>C			D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E28Q	ENST00000264079.6	37	c.82	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386175	0.25031	.	.	ENSG00000032444	ENST00000414982	T	0.44482	0.92	3.34	-4.3	0.03710	.	.	.	.	.	T	0.22820	0.0551	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26985	-1.0087	9	0.56958	D	0.05	.	5.787	0.18338	0.2299:0.5146:0.2555:0.0	.	19;19	Q8IY17;Q8IY17-3	PLPL6_HUMAN;.	Q	28	ENSP00000407509:E28Q	ENSP00000407509:E28Q	E	+	1	0	PNPLA6	7506729	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.215000	0.09279	-0.386000	0.07821	-0.291000	0.09656	GAG	PNPLA6	-	NULL	ENSG00000032444		0.687	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000458974.2		0	56	0	G	NM_020533		7600729	1			no_errors	ENST00000414982	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	C	C	7600729	G	C	7600729	1	2	17	0	1	0	0	0	0	0	0	0	12208	1175	41	5		5	PNPLA6	19	7600729	IGR	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6794267	7600729	51528254	232	5018											
MUC16	94025	genome.wustl.edu	37	chr19	9084625	9084625	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaacttgctgtcattcctGagatgctagtgggactgatg	9	12	13	7	0	1	2	1	2	0	1	2	5	2	4	1	2	3	2	1	2	2	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:9084625G>C	ENST00000397910.4	-	1	7393	c.7190C>G	c.(7189-7191)tCa>tGa	p.S2397*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2397	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCATTCCTGAGATGCTAGT	0.468																																																	0													114	113	113					19																	9084625		1977	4170	6147	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7190C>G	19.37:g.9084625G>C	ENSP00000381008:p.Ser2397*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S2397*	ENST00000397910.4	37	c.7190	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	46	12.890786	0.99704	.	.	ENSG00000181143	ENST00000397910	.	.	.	0.225	-0.451	0.12214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	2397	.	ENSP00000381008:S2397X	S	-	2	0	MUC16	8945625	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	-0.238000	0.08977	-0.839000	0.04212	-0.834000	0.03071	TCA	MUC16	-	NULL	ENSG00000181143		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	54	0	G	NM_024690		9084625	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	12.50	84	12	SNP	0.007	C	C	9084625	G	C	9084625	4	2	17	1	0	0	0	0	0	1	0	0	10011	1294	45	5	36669	5	MUC16	19	9084625	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1483896	9084625	50044358	233	5019											
ICAM5	7087	genome.wustl.edu	37	chr19	10401883	10401883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggagacctcgctgcgccGaaacgggacccagaggggtt	8	5	15	13	4	0	2	0	0	0	2	1	5	0	3	4	4	2	2	4	4	1	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:10401883G>A	ENST00000221980.4	+	2	281	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	73	Ig-like C2-type 1.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCGCTGCGCCGAAACGGGACC	0.706																																																	0													30	31	31					19																	10401883		2203	4298	6501	SO:0001583	missense	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.218G>A	19.37:g.10401883G>A	ENSP00000221980:p.Arg73Gln		Q9Y6F3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.R73Q	ENST00000221980.4	37	c.218	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.072051	0.93950	.	.	ENSG00000105376	ENST00000221980	T	0.14144	2.53	4.96	4.96	0.65561	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.421612	0.23764	N	0.044798	T	0.15132	0.0365	N	0.17723	0.515	0.33587	D	0.600666	D	0.69078	0.997	P	0.51415	0.669	T	0.07443	-1.0772	10	0.54805	T	0.06	-16.0222	13.5764	0.61877	0.0:0.0:1.0:0.0	.	73	Q9UMF0	ICAM5_HUMAN	Q	73	ENSP00000221980:R73Q	ENSP00000221980:R73Q	R	+	2	0	ICAM5	10262883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.277000	0.43417	2.577000	0.86979	0.549000	0.68633	CGA	ICAM5	-	pfam_ICAM_N	ENSG00000105376		0.706	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1		0	24	0	G	NM_003259		10401883	1			no_errors	ENST00000221980	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.994	A	A	10401883	G	A	10401883	3	1	17	1	0	0	0	0	1	0	0	0	7510	1058	37	1	224	1	ICAM5	19	10401883	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1317258	10401883	48727100	234	5020											
RGL3	57139	genome.wustl.edu	37	chr19	11510589	11510589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactgccagcaggagcatctCtgcttctaggacttgagggg	8	9	14	10	0	2	1	0	1	2	0	3	4	2	3	1	4	4	3	1	4	1	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:11510589C>G	ENST00000380456.3	-	16	1751	c.1688G>C	c.(1687-1689)aGa>aCa	p.R563T	RGL3_ENST00000393423.3_Missense_Mutation_p.R569T|RGL3_ENST00000568628.1_5'Flank	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	563	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						AGGAGCATCTCTGCTTCTAGG	0.662																																					GBM(174;751 2067 17998 27979 33959)												0													29	35	33					19																	11510589		2200	4298	6498	SO:0001583	missense	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.1688G>C	19.37:g.11510589C>G	ENSP00000369823:p.Arg563Thr		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R569T	ENST00000380456.3	37	c.1706	CCDS32910.1	19	.	.	.	.	.	.	.	.	.	.	C	5.743	0.321602	0.10845	.	.	ENSG00000205517	ENST00000342684;ENST00000393423;ENST00000380456	T;T	0.40225	1.18;1.04	4.92	-5.66	0.02451	.	1.894700	0.01908	N	0.039617	T	0.24624	0.0597	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.22276	0.067;0.067;0.067;0.067	B;B;B;B	0.16722	0.016;0.016;0.01;0.01	T	0.11421	-1.0588	10	0.14656	T	0.56	.	7.0773	0.25211	0.0:0.4104:0.1207:0.4689	.	563;569;569;360	Q3MIN7;B5ME84;B7ZL22;Q8TEP0	RGL3_HUMAN;.;.;.	T	360;569;563	ENSP00000377075:R569T;ENSP00000369823:R563T	ENSP00000344665:R360T	R	-	2	0	RGL3	11371589	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-0.993000	0.03720	-0.926000	0.03770	0.313000	0.20887	AGA	RGL3	-	NULL	ENSG00000205517		0.662	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	-	0	27	0	C	XM_290867		11510589	-1	tier1	-	no_errors	ENST00000393423	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.000	G	G	11510589	C	G	11510589	3	3	17	1	0	0	0	0	1	0	0	0	13323	913	32	5	460	5	RGL3	19	11510589	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1108706	11510589	47618394	235	5021											
ZNF700	90592	genome.wustl.edu	37	chr19	12059541	12059541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaagccttccattctttCagtttatatcttatccatga	10	16	6	9	0	3	1	1	1	2	0	5	2	5	2	3	1	1	1	3	1	4	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:12059541C>T	ENST00000254321.5	+	4	845	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Silent_p.F216F|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	234					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCCATTCTTTCAGTTTATATC	0.348																																																	0													63	68	66					19																	12059541		2203	4299	6502	SO:0001819	synonymous_variant	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.702C>T	19.37:g.12059541C>T			B9EGU4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F234	ENST00000254321.5	37	c.702	CCDS32915.1	19																																																																																			ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.348	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	-	0	39	0	C	NM_144566		12059541	1	tier1	-	no_errors	ENST00000254321	ensembl	human	known	74_37	silent	7.04	66	5	SNP	0.000	T	T	12059541	C	T	12059541	2	4	17	1	0	0	0	0	0	0	0	1	18152	825	29	3		3	ZNF700	19	12059541	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	548952	12059541	47069442	236	5022											
CACNA1A	773	genome.wustl.edu	37	chr19	13397432	13397432	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgccgctggggttggtGacgataaggctattctcggg	5	11	18	7	3	1	1	0	1	1	0	2	2	1	1	1	6	1	3	1	6	2	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:13397432G>T	ENST00000360228.5	-	20	3437	c.3438C>A	c.(3436-3438)gtC>gtA	p.V1146V	CACNA1A_ENST00000573710.2_Silent_p.V1147V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1147					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGGTTGGTGACGATAAGGC	0.662																																																	0													39	41	40					19																	13397432		1956	4130	6086	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3438C>A	19.37:g.13397432G>T			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.V1146	ENST00000360228.5	37	c.3438	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.662	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	-	0	28	0	G	NM_000068		13397432	-1	tier1	-	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	15.15	28	5	SNP	1.000	T	T	13397432	G	T	13397432	2	4	17	1	0	0	0	0	0	0	0	1	2545	1277	45	3		3	CACNA1A	19	13397432	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	1337891	13397432	45731551	237	5023											
DDX39	10212	genome.wustl.edu	37	chr19	14522410	14522410	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacatgaccaggaccgtcaCctgggaagtggcataagaag	13	5	13	10	1	1	2	1	1	0	1	1	4	1	4	3	3	0	2	3	3	3	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:14522410C>A	ENST00000242776.4	-	4	438	c.337G>T	c.(337-339)Gtg>Ttg	p.V113L	CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'UTR|DDX39A_ENST00000454233.2_Splice_Site_p.V113L	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	113	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						AGGACCGTCACCTGGGAAGTG	0.572																																																	0													106	90	95					19																	14522410		2203	4300	6503	SO:0001630	splice_region_variant	0			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.337-1G>T	19.37:g.14522410C>A			Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.V113L	ENST00000242776.4	37	c.337	CCDS12308.1	19	.	.	.	.	.	.	.	.	.	.	c	16.78	3.217954	0.58560	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.14766	2.48;2.48;2.48	3.85	2.79	0.32731	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.075053	0.52532	D	0.000061	T	0.12987	0.0315	L	0.48986	1.54	0.58432	D	0.99999	P;B	0.43909	0.821;0.198	B;B	0.41813	0.367;0.102	T	0.01863	-1.1258	10	0.66056	D	0.02	-25.3773	6.6622	0.23020	0.0:0.8668:0.0:0.1332	.	113;113	B1Q2N1;O00148	.;DX39A_HUMAN	L	156;113;113;113	ENSP00000242776:V113L;ENSP00000322749:V113L;ENSP00000392929:V113L	ENSP00000242776:V113L	V	-	1	0	DDX39A	14383410	1.000000	0.71417	0.842000	0.33263	0.135000	0.20990	4.877000	0.63086	1.874000	0.54306	0.558000	0.71614	GTG	DDX39A	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000123136		0.572	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	-	0	76	0	C	NM_138998	Missense_Mutation	14522410	-1	tier1	-	no_errors	ENST00000242776	ensembl	human	known	74_37	missense	8.08	91	8	SNP	1.000	A	A	14522410	C	A	14522410	5	1	17	1	0	0	0	0	0	0	1	0	4366	521	18	3	978	3	DDX39	19	14522410	Splice_Site	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1124978	14522410	44606573	238	5024											
NDUFB7	4713	genome.wustl.edu	37	chr19	14677011	14677011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaactctgccgccttcttCtcccgccgcttcttccgctg	2	12	7	20	4	4	0	0	0	4	0	6	0	5	0	6	0	2	2	6	0	1	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:14677011C>T	ENST00000215565.2	-	3	409	c.348G>A	c.(346-348)gaG>gaA	p.E116E		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	116					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCGCCTTCTTCTCCCGCCGCT	0.637																																																	0													26	31	30					19																	14677011		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.348G>A	19.37:g.14677011C>T			Q6ICN9|Q9UI16	Silent	SNP	pfam_NADH_UbQ_OxRdtase_B18_su	p.E116	ENST00000215565.2	37	c.348	CCDS12314.1	19																																																																																			NDUFB7	-	NULL	ENSG00000099795		0.637	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB7	HGNC	protein_coding	OTTHUMT00000466025.1	-	0	53	0	C	NM_004146		14677011	-1	tier1	-	no_errors	ENST00000215565	ensembl	human	known	74_37	silent	7.89	70	6	SNP	0.002	T	T	14677011	C	T	14677011	2	4	17	1	0	0	0	0	0	0	0	1	10325	912	32	3		3	NDUFB7	19	14677011	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	154601	14677011	44451972	239	5025											
AKAP8	10270	genome.wustl.edu	37	chr19	15483682	15483682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgatcccgatcccgcatccGaggctgcgagcggccacatc	7	5	11	18	6	0	0	0	0	0	0	4	4	3	0	5	2	2	2	5	2	0	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:15483682G>A	ENST00000269701.2	-	5	901	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	281					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCCCGCATCCGAGGCTGCGAG	0.602																																					GBM(190;1671 2163 3274 27186 30476)												0													22	24	23					19																	15483682		2202	4300	6502	SO:0001583	missense	0			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"A-kinase anchor proteins"	378	protein-coding gene	gene with protein product	"A-kinase anchor protein, 95kDa"	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.841C>T	19.37:g.15483682G>A	ENSP00000269701:p.Arg281Trp			Missense_Mutation	SNP	pfam_AKAP95	p.R281W	ENST00000269701.2	37	c.841	CCDS12329.1	19	.	.	.	.	.	.	.	.	.	.	g	16.28	3.077898	0.55753	.	.	ENSG00000105127	ENST00000269701;ENST00000537303	T	0.53423	0.62	4.71	3.6	0.41247	.	0.132668	0.34025	N	0.004335	T	0.62998	0.2474	M	0.62723	1.935	0.28222	N	0.926462	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55617	-0.8113	10	0.72032	D	0.01	-25.3315	11.8999	0.52678	0.0:0.0:0.8259:0.1741	.	281;281	Q8NE02;O43823	.;AKAP8_HUMAN	W	281;30	ENSP00000269701:R281W	ENSP00000269701:R281W	R	-	1	2	AKAP8	15344682	0.989000	0.36119	0.949000	0.38748	0.351000	0.29236	2.170000	0.42443	2.610000	0.88304	0.645000	0.84053	CGG	AKAP8	-	NULL	ENSG00000105127		0.602	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8	HGNC	protein_coding	OTTHUMT00000461293.3		0	30	0	G	NM_005858		15483682	-1			no_errors	ENST00000269701	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.788	A	A	15483682	G	A	15483682	3	1	17	1	0	0	0	0	1	0	0	0	457	1057	37	1	1277	1	AKAP8	19	15483682	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	806671	15483682	43645301	240	5026											
UPF1	5976	genome.wustl.edu	37	chr19	18972827	18972827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcccttccaggaggtggaGatcgccagtgtggacgcctt	6	9	14	12	2	0	1	0	0	0	1	3	4	2	3	4	4	0	1	4	4	0	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:18972827G>A	ENST00000599848.1	+	18	2708	c.2499G>A	c.(2497-2499)gaG>gaA	p.E833E	UPF1_ENST00000262803.5_Silent_p.E822E			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	833					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGGAGGTGGAGATCGCCAGTG	0.557																																																	0													71	57	62					19																	18972827		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2499G>A	19.37:g.18972827G>A			O00239|O43343|Q86Z25|Q92842	Silent	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.E833	ENST00000599848.1	37	c.2499		19																																																																																			UPF1	-	superfamily_P-loop_NTPase	ENSG00000005007		0.557	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	-	0	24	0	G	NM_002911		18972827	1	tier1	-	no_errors	ENST00000599848	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.998	A	A	18972827	G	A	18972827	2	1	17	1	0	0	0	0	0	0	0	1	17052	933	33	3		3	UPF1	19	18972827	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	3489145	18972827	40156156	241	5027											
UPF1	5976	genome.wustl.edu	37	chr19	18972858	18972858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacgcctttcagggacgcGagaaggacttcatcatcctg	9	9	12	11	3	3	1	3	0	0	1	4	5	4	4	2	3	0	0	2	3	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:18972858G>A	ENST00000599848.1	+	18	2739	c.2530G>A	c.(2530-2532)Gag>Aag	p.E844K	UPF1_ENST00000262803.5_Missense_Mutation_p.E833K			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	844					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCAGGGACGCGAGAAGGACTT	0.582																																																	0													95	76	83					19																	18972858		2203	4300	6503	SO:0001583	missense	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2530G>A	19.37:g.18972858G>A	ENSP00000470142:p.Glu844Lys		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.E844K	ENST00000599848.1	37	c.2530		19	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833489	0.91036	.	.	ENSG00000005007	ENST00000262803	D	0.96300	-3.97	5.06	4.02	0.46733	.	0.116998	0.64402	D	0.000018	D	0.99039	0.9671	H	0.99958	5.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.955	D	0.97631	1.0142	10	0.87932	D	0	-55.069	10.4419	0.44471	0.0901:0.0:0.9099:0.0	.	844;833	Q92900;Q92900-2	RENT1_HUMAN;.	K	833	ENSP00000262803:E833K	ENSP00000262803:E833K	E	+	1	0	UPF1	18833858	1.000000	0.71417	0.818000	0.32626	0.974000	0.67602	9.396000	0.97270	1.118000	0.41863	0.563000	0.77884	GAG	UPF1	-	superfamily_P-loop_NTPase	ENSG00000005007		0.582	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	-	0	23	0	G	NM_002911		18972858	1	tier1	-	no_errors	ENST00000599848	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.998	A	A	18972858	G	A	18972858	3	1	17	1	0	0	0	0	1	0	0	0	17052	1059	37	1	2567	1	UPF1	19	18972858	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	31	18972858	40156125	242	5028											
ZNF585B	92285	genome.wustl.edu	37	chr19	37680968	37680968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccagcatcacatcccGgtacaggtttctctgagaaa	10	10	9	12	1	3	1	1	1	2	1	6	2	4	1	2	3	2	3	2	3	2	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:37680968G>C	ENST00000532828.2	-	3	408	c.157C>G	c.(157-159)Cgg>Ggg	p.R53G	ZNF585B_ENST00000531805.1_5'UTR|ZNF585B_ENST00000586320.1_Missense_Mutation_p.R38G|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.R53G|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.R53G	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATCACATCCCGGTACAGGTTT	0.517																																					Melanoma(93;882 1454 18863 28917 48427)												0													121	101	108					19																	37680968		2203	4300	6503	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.157C>G	19.37:g.37680968G>C	ENSP00000433773:p.Arg53Gly		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R53G	ENST00000532828.2	37	c.157	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452539	0.43531	.	.	ENSG00000245680	ENST00000532828;ENST00000527838	T;T	0.02656	4.21;4.21	2.95	-1.12	0.09808	Krueppel-associated box (4);	0.508491	0.14847	N	0.294936	T	0.06917	0.0176	M	0.89601	3.045	0.80722	D	1	P	0.34743	0.466	B	0.40677	0.337	T	0.13575	-1.0504	10	0.87932	D	0	.	2.5891	0.04838	0.2717:0.0:0.3497:0.3786	.	53	Q52M93	Z585B_HUMAN	G	53	ENSP00000433773:R53G;ENSP00000435268:R53G	ENSP00000435268:R53G	R	-	1	2	ZNF585B	42372808	0.000000	0.05858	0.954000	0.39281	0.881000	0.50899	-1.572000	0.02136	-0.275000	0.09219	-0.680000	0.03767	CGG	ZNF585B	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000245680		0.517	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2		0	58	0	G	NM_152279		37680968	-1			no_errors	ENST00000532828	ensembl	human	known	74_37	missense	5.04	112	6	SNP	0.882	C	C	37680968	G	C	37680968	3	2	17	1	0	0	0	0	1	0	0	0	18066	1115	39	5	2164	5	ZNF585B	19	37680968	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	18708110	37680968	21448015	243	5029											
PHLDB3	653583	genome.wustl.edu	37	chr19	43983562	43983562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagcggcgggcttggcggtCaaagcagaaccatcgcttcc	9	6	13	13	4	1	1	1	0	0	1	3	1	2	1	2	4	3	3	2	4	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:43983562C>G	ENST00000292140.5	-	14	2029	c.1669G>C	c.(1669-1671)Gac>Cac	p.D557H		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	557	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCTTGGCGGTCAAAGCAGAAC	0.632																																																	0													12	15	14					19																	43983562		2021	4132	6153	SO:0001583	missense	0				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1669G>C	19.37:g.43983562C>G	ENSP00000292140:p.Asp557His		Q8N7Z4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D557H	ENST00000292140.5	37	c.1669	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860869	0.71834	.	.	ENSG00000176531	ENST00000292140	T	0.75367	-0.93	4.59	4.59	0.56863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	D	0.85026	0.5603	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86836	0.2014	10	0.87932	D	0	.	15.7522	0.77994	0.0:1.0:0.0:0.0	.	227;557	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	H	557	ENSP00000292140:D557H	ENSP00000292140:D557H	D	-	1	0	PHLDB3	48675402	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	6.996000	0.76263	2.501000	0.84356	0.585000	0.79938	GAC	PHLDB3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000176531		0.632	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	-	0	59	0	C			43983562	-1	tier1	-	no_errors	ENST00000292140	ensembl	human	known	74_37	missense	11.49	77	10	SNP	1.000	G	G	43983562	C	G	43983562	3	3	17	1	0	0	0	0	1	0	0	0	11892	826	29	5	265	5	PHLDB3	19	43983562	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	6302594	43983562	15145421	244	5030											
CLPTM1	1209	genome.wustl.edu	37	chr19	45476365	45476365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcatcatctgggccatCagcagttggttccgccgagg	7	11	11	12	2	5	0	3	0	2	0	6	1	6	0	3	3	1	3	3	3	0	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:45476365C>A	ENST00000337392.5	+	3	357	c.207C>A	c.(205-207)atC>atA	p.I69I	CLPTM1_ENST00000546079.1_5'UTR|CLPTM1_ENST00000541297.2_Silent_p.I55I	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	69					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCTGGGCCATCAGCAGTTGGT	0.622																																																	0													61	66	64					19																	45476365		2203	4300	6503	SO:0001819	synonymous_variant	0			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.207C>A	19.37:g.45476365C>A			B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	pfam_CLPTM1	p.I69	ENST00000337392.5	37	c.207	CCDS12651.1	19																																																																																			CLPTM1	-	pfam_CLPTM1	ENSG00000104853		0.622	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	HGNC	protein_coding	OTTHUMT00000453267.1	-	0	36	0	C	NM_001294		45476365	1	tier1	-	no_errors	ENST00000337392	ensembl	human	known	74_37	silent	19.61	41	10	SNP	1.000	A	A	45476365	C	A	45476365	2	1	17	1	0	0	0	0	0	0	0	1	3561	816	29	3		3	CLPTM1	19	45476365	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1492803	45476365	13652618	245	5031											
MYH14	79784	genome.wustl.edu	37	chr19	50720965	50720965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgtaccggggcaagaagCgccacgaggtgccaccccac	11	3	13	14	3	0	2	0	0	0	2	0	3	0	2	5	3	3	2	5	3	3	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr19:50720965C>T	ENST00000596571.1	+	2	499	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	MYH14_ENST00000262269.8_Missense_Mutation_p.R167C|MYH14_ENST00000440075.2_Missense_Mutation_p.R167C|MYH14_ENST00000425460.1_Missense_Mutation_p.R167C|MYH14_ENST00000598205.1_Missense_Mutation_p.R167C|MYH14_ENST00000601313.1_Missense_Mutation_p.R167C|MYH14_ENST00000376970.2_Missense_Mutation_p.R167C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	167	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGCAAGAAGCGCCACGAGGT	0.617																																																	0													77	85	82					19																	50720965		2170	4270	6440	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.499C>T	19.37:g.50720965C>T	ENSP00000472819:p.Arg167Cys		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R167C	ENST00000596571.1	37	c.499	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745449	0.69418	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	4.63	4.63	0.57726	Myosin head, motor domain (2);	.	.	.	.	D	0.96839	0.8968	H	0.99042	4.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98093	1.0410	9	0.87932	D	0	.	15.3635	0.74499	0.0:1.0:0.0:0.0	.	167;167;167	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	C	167	ENSP00000406273:R167C;ENSP00000366169:R167C;ENSP00000407879:R167C;ENSP00000262269:R167C	ENSP00000262269:R167C	R	+	1	0	MYH14	55412777	0.985000	0.35326	1.000000	0.80357	0.883000	0.51084	0.286000	0.18902	2.579000	0.87056	0.655000	0.94253	CGC	MYH14	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000105357		0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0	35	0	C	NM_024729		50720965	1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	50720965	C	T	50720965	3	4	17	1	0	0	0	0	1	0	0	0	10071	768	27	1	505	1	MYH14	19	50720965	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	5244600	50720965	8408018	246	5032											
DEFB129	140881	genome.wustl.edu	37	chr20	210168	210168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acatattttatctgttctccCccaaatcaaaagcactagct	13	13	3	12	0	3	0	1	0	2	0	4	0	3	0	2	0	2	3	2	0	6	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:210168C>A	ENST00000246105.4	+	2	339	c.308C>A	c.(307-309)cCc>cAc	p.P103H		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	103					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TCTGTTCTCCCCCAAATCAAA	0.403																																																	0													92	93	93					20																	210168		2203	4300	6503	SO:0001583	missense	0			AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"Defensins, beta"	16218	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 87"	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.308C>A	20.37:g.210168C>A	ENSP00000246105:p.Pro103His		Q8NES7	Missense_Mutation	SNP	NULL	p.P103H	ENST00000246105.4	37	c.308	CCDS12992.1	20	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033871	0.35893	.	.	ENSG00000125903	ENST00000246105	T	0.42513	0.97	3.96	0.505	0.16953	.	0.696409	0.12681	N	0.448000	T	0.37919	0.1021	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	T	0.17137	-1.0379	10	0.62326	D	0.03	-0.5154	3.5117	0.07710	0.2341:0.5559:0.0:0.21	.	103	Q9H1M3	DB129_HUMAN	H	103	ENSP00000246105:P103H	ENSP00000246105:P103H	P	+	2	0	DEFB129	158168	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.215000	0.09279	0.091000	0.17302	0.563000	0.77884	CCC	DEFB129	-	NULL	ENSG00000125903		0.403	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB129	HGNC	protein_coding	OTTHUMT00000077430.2		0	22	0	C	NM_080831		210168	1			no_errors	ENST00000246105	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	A	A	210168	C	A	210168	3	1	17	1	0	0	0	0	1	0	0	0	4428	623	22	3	314	3	DEFB129	20	210168	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		210168	62815352	247	5033											
FAM113A	64773	genome.wustl.edu	37	chr20	2818908	2818908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcttgggcagctccaCgccccaggcgtcagccacat	7	5	11	18	3	1	0	1	0	0	0	2	0	2	0	5	2	2	3	5	2	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:2818908C>A	ENST00000360652.2	-	6	1313	c.811G>T	c.(811-813)Gtg>Ttg	p.V271L	VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.V220L|VPS16_ENST00000380469.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	271																	GGCAGCTCCACGCCCCAGGCG	0.622																																																	0													97	87	90					20																	2818908		2203	4300	6503	SO:0001583	missense	0			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 81", "family with sequence similarity 113, member A"	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.811G>T	20.37:g.2818908C>A	ENSP00000353868:p.Val271Leu		Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	NULL	p.V271L	ENST00000360652.2	37	c.811	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007239	0.54361	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.50001	0.76;0.82;0.95;0.96	4.29	3.34	0.38264	Esterase, SGNH hydrolase-type (1);	0.071226	0.53938	D	0.000041	T	0.58395	0.2119	L	0.48877	1.53	0.47214	D	0.999354	D;D;D;D	0.89917	1.0;0.98;0.997;0.997	D;P;D;D	0.91635	0.999;0.793;0.984;0.925	T	0.59852	-0.7376	10	0.72032	D	0.01	-8.5999	9.9578	0.41678	0.0:0.8992:0.0:0.1008	.	220;267;118;271	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	L	220;271;220;271	ENSP00000349334:V220L;ENSP00000353868:V271L;ENSP00000388935:V220L;ENSP00000401711:V271L	ENSP00000349334:V220L	V	-	1	0	FAM113A	2766908	1.000000	0.71417	0.844000	0.33320	0.721000	0.41392	4.754000	0.62191	1.159000	0.42565	0.563000	0.77884	GTG	PCED1A	-	NULL	ENSG00000132635		0.622	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	-	0	44	0	C	NM_022760		2818908	-1	tier1	-	no_errors	ENST00000360652	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.991	A	A	2818908	C	A	2818908	3	1	17	1	0	0	0	0	1	0	0	0	5420	536	19	2	565	2	FAM113A	20	2818908	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	2608740	2818908	60206612	248	5034											
CHGB	1114	genome.wustl.edu	37	chr20	5904375	5904375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaacccatactacgaccctCtccagtggaagagcagccat	12	7	7	15	1	2	1	1	0	1	1	3	3	2	2	4	1	5	1	4	1	4	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:5904375C>G	ENST00000378961.4	+	4	1789	c.1585C>G	c.(1585-1587)Ctc>Gtc	p.L529V		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	529						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CTACGACCCTCTCCAGTGGAA	0.438																																																	0													67	68	68					20																	5904375		2203	4300	6503	SO:0001583	missense	0				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"secretogranin B"	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1585C>G	20.37:g.5904375C>G	ENSP00000368244:p.Leu529Val		A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.L529V	ENST00000378961.4	37	c.1585	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540539	0.27563	.	.	ENSG00000089199	ENST00000378961	T	0.01613	4.73	5.93	-0.852	0.10713	.	0.664367	0.14482	N	0.316886	T	0.01627	0.0052	L	0.43923	1.385	0.09310	N	1	B	0.30068	0.267	B	0.30495	0.116	T	0.44817	-0.9303	10	0.41790	T	0.15	0.4249	1.7706	0.03011	0.1227:0.4192:0.2052:0.2529	.	529	P05060	SCG1_HUMAN	V	529	ENSP00000368244:L529V	ENSP00000368244:L529V	L	+	1	0	CHGB	5852375	0.000000	0.05858	0.015000	0.15790	0.990000	0.78478	-0.391000	0.07323	-0.387000	0.07809	-0.176000	0.13171	CTC	CHGB	-	pfam_Granin	ENSG00000089199		0.438	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	-	0	14	0	C	NM_001819		5904375	1	tier1	-	no_errors	ENST00000378961	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.000	G	G	5904375	C	G	5904375	3	3	17	1	0	0	0	0	1	0	0	0	3346	913	32	5	1599	5	CHGB	20	5904375	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3085467	5904375	57121145	249	5035											
PLCG1	5335	genome.wustl.edu	37	chr20	39788339	39788339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctttccggccggaccagtCacattgctttgtcattctct	6	14	8	13	2	3	0	2	0	1	0	5	1	4	1	3	2	2	2	3	2	0	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:39788339C>T	ENST00000373271.1	+	2	716	c.311C>T	c.(310-312)tCa>tTa	p.S104L	PLCG1_ENST00000373272.2_Missense_Mutation_p.S104L|PLCG1_ENST00000244007.3_Missense_Mutation_p.S104L	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	104	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCGGACCAGTCACATTGCTTT	0.507																																																	0													100	103	102					20																	39788339		2203	4300	6503	SO:0001583	missense	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.311C>T	20.37:g.39788339C>T	ENSP00000362368:p.Ser104Leu		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.S104L	ENST00000373271.1	37	c.311	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377364	0.61735	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.65178	-0.14;-0.14;-0.14	5.07	5.07	0.68467	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.061513	0.64402	D	0.000003	T	0.46502	0.1396	N	0.11698	0.16	0.47037	D	0.999292	B;B	0.09022	0.002;0.002	B;B	0.09377	0.002;0.004	T	0.32534	-0.9903	10	0.28530	T	0.3	.	18.4505	0.90702	0.0:1.0:0.0:0.0	.	104;104	P19174;A2A284	PLCG1_HUMAN;.	L	104	ENSP00000244007:S104L;ENSP00000362368:S104L;ENSP00000362369:S104L	ENSP00000244007:S104L	S	+	2	0	PLCG1	39221753	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.442000	0.80503	2.360000	0.80028	0.650000	0.86243	TCA	PLCG1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology	ENSG00000124181		0.507	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	-	0	43	0	C	NM_182811		39788339	1	tier1	-	no_errors	ENST00000244007	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	39788339	C	T	39788339	3	4	17	1	0	0	0	0	1	0	0	0	12074	838	29	3	317	3	PLCG1	20	39788339	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	33883964	39788339	23237181	250	5036											
PTPRT	11122	genome.wustl.edu	37	chr20	41306583	41306583	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggtcgtgtgaggagcactCggatctcatactcaacatcg	9	10	11	11	3	2	1	2	1	1	0	6	3	2	3	0	3	3	1	0	3	2	1	rs571224137		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:41306583C>G	ENST00000373187.1	-	7	1075	c.1076G>C	c.(1075-1077)cGa>cCa	p.R359P	PTPRT_ENST00000356100.2_Missense_Mutation_p.R359P|PTPRT_ENST00000373201.1_Missense_Mutation_p.R359P|PTPRT_ENST00000373198.4_Missense_Mutation_p.R359P|PTPRT_ENST00000373193.3_Missense_Mutation_p.R359P|PTPRT_ENST00000373190.1_Missense_Mutation_p.R359P|PTPRT_ENST00000373184.1_Missense_Mutation_p.R359P			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R359L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAGGAGCACTCGGATCTCATA	0.567																																																	1	Substitution - Missense(1)	lung(1)											114	115	115					20																	41306583		1969	4171	6140	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1076G>C	20.37:g.41306583C>G	ENSP00000362283:p.Arg359Pro		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R359P	ENST00000373187.1	37	c.1076	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141816	0.57044	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.066160	0.64402	D	0.000019	T	0.62171	0.2406	L	0.48642	1.525	0.49389	D	0.999787	P;P	0.45672	0.864;0.648	P;P	0.48227	0.571;0.482	T	0.63060	-0.6721	10	0.52906	T	0.07	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	359;359	O14522-1;O14522	.;PTPRT_HUMAN	P	359	ENSP00000362286:R359P;ENSP00000362283:R359P;ENSP00000362289:R359P;ENSP00000348408:R359P;ENSP00000362294:R359P;ENSP00000362280:R359P;ENSP00000362297:R359P	ENSP00000348408:R359P	R	-	2	0	PTPRT	40739997	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	4.484000	0.60271	2.705000	0.92388	0.655000	0.94253	CGA	PTPRT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	45	0	C			41306583	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	6.74	83	6	SNP	0.998	G	G	41306583	C	G	41306583	3	3	17	1	0	0	0	0	1	0	0	0	12857	884	31	5	3410	5	PTPRT	20	41306583	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1518244	41306583	21718937	251	5037											
WISP2	8839	genome.wustl.edu	37	chr20	43353384	43353384	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttttcctccgcagtggcaGaggacgacagcagctgtgag	8	9	14	10	2	0	2	0	1	0	1	2	4	2	3	2	2	2	5	2	2	0	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:43353384G>C	ENST00000372868.2	+	4	626	c.283G>C	c.(283-285)Gag>Cag	p.E95Q	WISP2_ENST00000372865.4_Intron|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.E95Q|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	95					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CGCAGTGGCAGAGGACGACAG	0.667																																																	0													39	32	34					20																	43353384		2202	4300	6502	SO:0001583	missense	0			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.283G>C	20.37:g.43353384G>C	ENSP00000361959:p.Glu95Gln		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.E95Q	ENST00000372868.2	37	c.283	CCDS13336.1	20	.	.	.	.	.	.	.	.	.	.	G	7.693	0.691388	0.15039	.	.	ENSG00000064205	ENST00000372868;ENST00000190983	T;T	0.62788	0.0;0.0	4.66	4.66	0.58398	.	0.480131	0.23067	N	0.052310	T	0.54854	0.1884	L	0.52364	1.645	0.09310	N	1	B	0.21606	0.058	B	0.18263	0.021	T	0.39210	-0.9625	10	0.14252	T	0.57	-29.5886	15.7214	0.77713	0.0:0.0:1.0:0.0	.	95	O76076	WISP2_HUMAN	Q	95	ENSP00000361959:E95Q;ENSP00000190983:E95Q	ENSP00000190983:E95Q	E	+	1	0	WISP2	42786798	1.000000	0.71417	0.337000	0.25536	0.089000	0.18198	5.818000	0.69236	2.141000	0.66446	0.455000	0.32223	GAG	WISP2	-	NULL	ENSG00000064205		0.667	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WISP2	HGNC	protein_coding	OTTHUMT00000127824.1	-	0	73	0	G	NM_003881		43353384	1	tier1	-	no_errors	ENST00000190983	ensembl	human	known	74_37	missense	9.77	120	13	SNP	0.239	C	C	43353384	G	C	43353384	3	2	17	1	0	0	0	0	1	0	0	0	17422	943	33	5	293	5	WISP2	20	43353384	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	2046801	43353384	19672136	252	5038											
YWHAB	7529	genome.wustl.edu	37	chr20	43533668	43533668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaattagtaagaaagaaAtgcagcctacacacccaatt	18	9	6	8	0	0	3	0	1	0	2	0	3	0	3	2	0	3	2	2	0	7	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:43533668A>G	ENST00000372839.3	+	5	758	c.484A>G	c.(484-486)Atg>Gtg	p.M162V	YWHAB_ENST00000353703.4_Missense_Mutation_p.M162V|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	162					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TAAGAAAGAAATGCAGCCTAC	0.413																																																	0													89	86	87					20																	43533668		2203	4300	6503	SO:0001583	missense	0			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"14-3-3 beta", "14-3-3 alpha"	601289	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.484A>G	20.37:g.43533668A>G	ENSP00000361930:p.Met162Val		A8K9K2|E1P616	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.M162V	ENST00000372839.3	37	c.484	CCDS13339.1	20	.	.	.	.	.	.	.	.	.	.	A	29.3	4.991240	0.93106	.	.	ENSG00000166913	ENST00000353703;ENST00000372839	T;T	0.42131	0.98;0.98	5.87	5.87	0.94306	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.82323	2.585	0.80722	D	1	D	0.56746	0.977	P	0.57960	0.83	T	0.70182	-0.4942	10	0.87932	D	0	-21.9534	16.5764	0.84681	1.0:0.0:0.0:0.0	.	162	P31946	1433B_HUMAN	V	162	ENSP00000300161:M162V;ENSP00000361930:M162V	ENSP00000300161:M162V	M	+	1	0	YWHAB	42967082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	ATG	YWHAB	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000166913		0.413	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAB	HGNC	protein_coding	OTTHUMT00000079386.3	-	0	26	0	A	NM_003404		43533668	1	tier1	-	no_errors	ENST00000353703	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	G	G	43533668	A	G	43533668	3	3	17	1	0	0	0	0	1	0	0	0	17550	101	4	4	494	4	YWHAB	20	43533668	Missense_Mutation	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09	180284	43533668	19491852	253	5039											
SEMG2	6407	genome.wustl.edu	37	chr20	43850642	43850642	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaatcaaaaggtcatttTcacatgatagttatacatca	17	13	5	6	0	4	1	4	1	0	0	4	2	4	1	0	1	1	1	0	1	7	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:43850642T>C	ENST00000372769.3	+	2	459	c.369T>C	c.(367-369)ttT>ttC	p.F123F		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	123	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAGGTCATTTTCACATGATAG	0.393																																																	0													100	90	94					20																	43850642		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.369T>C	20.37:g.43850642T>C			Q53ZU2|Q6X2M5|Q6X2M6	Silent	SNP	pfam_Semenogelin	p.F123	ENST00000372769.3	37	c.369	CCDS13346.1	20																																																																																			SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1	-	0	40	0	T	NM_003008		43850642	1	tier1	-	no_errors	ENST00000372769	ensembl	human	known	74_37	silent	19.35	50	12	SNP	0.001	C	C	43850642	T	C	43850642	2	2	17	1	0	0	0	0	0	0	0	1	14090	1780	62	4		4	SEMG2	20	43850642	Silent	SNP	T	TCGA-IG-A3Y9-01A-12D-A247-09	316974	43850642	19174878	254	5040											
PCIF1	63935	genome.wustl.edu	37	chr20	44567713	44567713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccaggtacctccaatcaGagccagccctgttctccaaa	10	8	6	17	0	2	1	1	0	1	1	5	1	4	1	7	1	3	2	7	1	3	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:44567713G>C	ENST00000372409.3	+	3	439	c.75G>C	c.(73-75)caG>caC	p.Q25H		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	25					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CCTCCAATCAGAGCCAGCCCT	0.632																																																	0													77	75	76					20																	44567713		2203	4300	6503	SO:0001583	missense	0			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.75G>C	20.37:g.44567713G>C	ENSP00000361486:p.Gln25His		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.Q25H	ENST00000372409.3	37	c.75	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319468	0.60524	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.49	3.13	0.36017	.	0.294993	0.33419	N	0.004938	T	0.30759	0.0775	N	0.19112	0.55	0.42982	D	0.994467	P	0.49253	0.921	B	0.42163	0.378	T	0.05616	-1.0874	9	0.35671	T	0.21	-20.1786	9.4576	0.38764	0.089:0.1486:0.7624:0.0	.	25	Q9H4Z3	PCIF1_HUMAN	H	25	.	ENSP00000361486:Q25H	Q	+	3	2	PCIF1	44001120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.945000	0.63568	1.269000	0.44280	0.655000	0.94253	CAG	PCIF1	-	NULL	ENSG00000100982		0.632	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	-	0	48	0	G	NM_022104		44567713	1	tier1	-	no_errors	ENST00000372409	ensembl	human	known	74_37	missense	10.67	67	8	SNP	1.000	C	C	44567713	G	C	44567713	3	2	17	1	0	0	0	0	1	0	0	0	11619	933	33	5	77	5	PCIF1	20	44567713	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	717071	44567713	18457807	255	5041											
TAF4	6874	genome.wustl.edu	37	chr20	60578929	60578929	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggcttcggaggctgctgGatgacctgaggcagagccag	7	7	16	11	1	0	3	0	2	0	1	1	5	0	5	3	5	2	4	3	5	0	1	rs369202948		TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:60578929G>T	ENST00000252996.4	-	8	2228	c.2229C>A	c.(2227-2229)atC>atA	p.I743I		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	743					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAGGCTGCTGGATGACCTGAG	0.647																																																	0													35	33	34					20																	60578929		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2229C>A	20.37:g.60578929G>T			A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.I743	ENST00000252996.4	37	c.2229	CCDS33500.1	20																																																																																			TAF4	-	NULL	ENSG00000130699		0.647	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	-	0	53	0	G	NM_003185		60578929	-1	tier1	-	no_errors	ENST00000252996	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.998	T	T	60578929	G	T	60578929	2	4	17	1	0	0	0	0	0	0	0	1	15573	1164	41	3		3	TAF4	20	60578929	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	16011216	60578929	2446591	256	5042											
LSM14B	149986	genome.wustl.edu	37	chr20	60701373	60701373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcagtcttccctgggttCtgcctccgcctcgcccttcc	1	14	8	18	2	3	0	1	0	2	0	7	0	6	0	6	1	1	2	6	1	0	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:60701373C>T	ENST00000279068.6	+	3	465	c.305C>T	c.(304-306)tCt>tTt	p.S102F	LSM14B_ENST00000253001.4_Missense_Mutation_p.S102F|LSM14B_ENST00000370915.1_Missense_Mutation_p.S102F	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	102					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCCCTGGGTTCTGCCTCCGCC	0.657																																																	0													71	76	74					20																	60701373		2147	4241	6388	SO:0001583	missense	0			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.305C>T	20.37:g.60701373C>T	ENSP00000279068:p.Ser102Phe		Q6PFW8|Q96LH8	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.S102F	ENST00000279068.6	37	c.305	CCDS46626.1	20	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996808	0.74818	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000400318;ENST00000279069	T;T;T	0.49720	0.8;0.77;0.81	5.42	4.47	0.54385	.	0.203473	0.42682	D	0.000663	T	0.66346	0.2780	M	0.64997	1.995	0.44627	D	0.997606	B;D;D	0.71674	0.437;0.998;0.997	B;D;D	0.79784	0.22;0.993;0.915	T	0.70908	-0.4744	10	0.87932	D	0	.	16.2584	0.82528	0.0:0.8672:0.1328:0.0	.	102;128;102	Q9BX40;Q5TBQ0;Q9BX40-2	LS14B_HUMAN;.;.	F	102;102;102;128;102	ENSP00000279068:S102F;ENSP00000253001:S102F;ENSP00000383172:S128F	ENSP00000253001:S102F	S	+	2	0	LSM14B	60134768	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.420000	0.44679	1.266000	0.44231	0.511000	0.50034	TCT	LSM14B	-	NULL	ENSG00000149657		0.657	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4	-	0	49	0	C	NM_144703		60701373	1	tier1	-	no_errors	ENST00000253001	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	T	T	60701373	C	T	60701373	3	4	17	1	0	0	0	0	1	0	0	0	9090	913	32	3	315	3	LSM14B	20	60701373	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	122444	60701373	2324147	257	5043											
DIDO1	11083	genome.wustl.edu	37	chr20	61510742	61510742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctccgggaccggtccCggtcgcgcctccggtctcgc	1	8	13	19	7	2	0	0	0	2	0	7	1	5	1	5	4	1	1	5	4	0	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr20:61510742C>T	ENST00000266070.4	-	16	6891	c.6566G>A	c.(6565-6567)cGg>cAg	p.R2189Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.R2189Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2189	Arg-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ggaccggtcccggtcgcgcct	0.731																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													10	9	9					20																	61510742		2030	3944	5974	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.6566G>A	20.37:g.61510742C>T	ENSP00000266070:p.Arg2189Gln		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R2189Q	ENST00000266070.4	37	c.6566	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297343	0.60086	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.63913	-0.07;-0.07	5.29	4.35	0.52113	.	.	.	.	.	T	0.71160	0.3307	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.55345	0.774	T	0.74925	-0.3498	9	0.66056	D	0.02	-23.8449	13.6782	0.62467	0.0:0.9243:0.0:0.0757	.	2189	Q9BTC0	DIDO1_HUMAN	Q	2189	ENSP00000266070:R2189Q;ENSP00000378752:R2189Q	ENSP00000266070:R2189Q	R	-	2	0	DIDO1	60981187	0.942000	0.31987	0.008000	0.14137	0.553000	0.35397	4.354000	0.59417	1.231000	0.43661	0.609000	0.83330	CGG	DIDO1	-	NULL	ENSG00000101191		0.731	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	70	0	C	NM_080796		61510742	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	9.00	91	9	SNP	0.781	T	T	61510742	C	T	61510742	3	4	17	1	0	0	0	0	1	0	0	0	4536	652	23	1	160	1	DIDO1	20	61510742	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	809369	61510742	1514778	258	5044											
TIAM1	7074	genome.wustl.edu	37	chr21	32638328	32638328	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttcaatcactttacctGagttgttttagctcttctgc	9	18	5	9	0	4	1	2	1	2	0	4	1	4	1	1	0	3	3	1	0	4	7			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr21:32638328G>A	ENST00000286827.3	-	5	1432	c.961C>T	c.(961-963)Cag>Tag	p.Q321*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.Q321*|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	321					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CACTTTACCTGAGTTGTTTTA	0.408																																																	0													76	71	72					21																	32638328		2203	4300	6503	SO:0001587	stop_gained	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.961C>T	21.37:g.32638328G>A	ENSP00000286827:p.Gln321*		B7ZLR6|F5GZ53|Q17RT7	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.Q321*	ENST00000286827.3	37	c.961	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	G	41	8.544143	0.98857	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7554	0.91830	0.0:0.0:1.0:0.0	.	.	.	.	X	321;162;321	.	ENSP00000286827:Q321X	Q	-	1	0	TIAM1	31560199	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.653000	0.91088	2.731000	0.93534	0.591000	0.81541	CAG	TIAM1	-	NULL	ENSG00000156299		0.408	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	64	0	G	NM_003253		32638328	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	nonsense	5.36	106	6	SNP	1.000	A	A	32638328	G	A	32638328	4	1	17	1	0	0	0	0	0	1	0	0	15937	1299	45	3	3914	3	TIAM1	21	32638328	Nonsense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09		32638328	15491567	259	5045											
C21orf63	59271	genome.wustl.edu	37	chr21	33887364	33887364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggggttctgtaggacttCatatcctatatacagttcca	9	14	9	9	1	2	0	1	0	1	0	5	1	4	1	2	3	1	3	2	3	5	8			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr21:33887364C>T	ENST00000300255.2	+	8	1663	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Missense_Mutation_p.S349L|EVA1C_ENST00000382699.3_Missense_Mutation_p.S394L	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	397						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TGTAGGACTTCATATCCTATA	0.502																																																	0													104	116	112					21																	33887364		2203	4300	6503	SO:0001583	missense	0			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 64", "chromosome 21 open reading frame 63", "family with sequence similarity 176, member C"	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1190C>T	21.37:g.33887364C>T	ENSP00000300255:p.Ser397Leu		A6ND58|Q8IXZ0	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom	p.S397L	ENST00000300255.2	37	c.1190	CCDS13614.1	21	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562565	0.65538	.	.	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.51574	0.7;0.7;0.7	5.67	5.67	0.87782	.	0.403240	0.28527	N	0.015024	T	0.54679	0.1873	M	0.80183	2.485	0.42742	D	0.993747	B;B	0.33964	0.232;0.434	B;B	0.31614	0.133;0.133	T	0.60167	-0.7316	10	0.56958	D	0.05	-6.2994	19.7635	0.96333	0.0:1.0:0.0:0.0	.	394;397	A6ND58;P58658	.;CU063_HUMAN	L	397;349;394	ENSP00000300255:S397L;ENSP00000384594:S349L;ENSP00000372146:S394L	ENSP00000300255:S397L	S	+	2	0	C21orf63	32809235	0.335000	0.24748	0.980000	0.43619	0.954000	0.61252	2.740000	0.47418	2.669000	0.90835	0.655000	0.94253	TCA	EVA1C	-	NULL	ENSG00000166979		0.502	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVA1C	HGNC	protein_coding	OTTHUMT00000139403.1		0	22	0	C	NM_058187		33887364	1			no_errors	ENST00000300255	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.982	T	T	33887364	C	T	33887364	3	4	17	1	0	0	0	0	1	0	0	0	2138	838	29	3	1220	3	C21orf63	21	33887364	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	1249036	33887364	14242531	260	5046											
CHAF1B	8208	genome.wustl.edu	37	chr21	37775142	37775142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgacggatctttgcttctCacgccaggtgtgtttcgtag	5	13	11	12	4	2	0	1	0	2	0	4	2	2	1	2	2	1	3	2	2	1	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr21:37775142C>T	ENST00000314103.5	+	8	901	c.750C>T	c.(748-750)ctC>ctT	p.L250L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	250					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CTTTGCTTCTCACGCCAGGTG	0.502																																																	0													185	166	173					21																	37775142		2203	4300	6503	SO:0001819	synonymous_variant	0			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"WD repeat domain containing"	1911	protein-coding gene	gene with protein product	"M-phase phosphoprotein 7", "Chromatin assembly factor I, p60 subunit", "human chromatin assembly factor-I p60 subunit"	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.750C>T	21.37:g.37775142C>T			Q99548	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B	p.L250	ENST00000314103.5	37	c.750	CCDS13644.1	21																																																																																			CHAF1B	-	superfamily_WD40_repeat_dom	ENSG00000159259		0.502	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1B	HGNC	protein_coding	OTTHUMT00000194616.2	-	0	53	0	C	NM_005441		37775142	1	tier1	-	no_errors	ENST00000314103	ensembl	human	known	74_37	silent	10.84	74	9	SNP	0.978	T	T	37775142	C	T	37775142	2	4	17	1	0	0	0	0	0	0	0	1	3319	813	29	3		3	CHAF1B	21	37775142	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3887778	37775142	10354753	261	5047											
PRDM15	63977	genome.wustl.edu	37	chr21	43221625	43221625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgggttcgaggcttcCggctgggggtggatctggac	4	10	19	8	2	1	0	0	0	1	0	3	4	2	2	1	7	0	3	1	7	0	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr21:43221625C>T	ENST00000269844.3	-	31	4409	c.4299G>A	c.(4297-4299)ccG>ccA	p.P1433P	PRDM15_ENST00000398548.1_Silent_p.P1104P|PRDM15_ENST00000422911.1_Silent_p.P1124P|PRDM15_ENST00000538201.1_Silent_p.P1087P|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Silent_p.P1067P	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCGAGGCTTCCGGCTGGGGGT	0.587																																																	0													97	83	88					21																	43221625		2203	4300	6503	SO:0001819	synonymous_variant	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4299G>A	21.37:g.43221625C>T			E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.P1433	ENST00000269844.3	37	c.4299	CCDS13676.1	21																																																																																			PRDM15	-	NULL	ENSG00000141956		0.587	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding			0	67	0	C	NM_022115		43221625	-1			no_errors	ENST00000269844	ensembl	human	known	74_37	silent	6.94	67	5	SNP	0.006	T	T	43221625	C	T	43221625	2	4	17	1	0	0	0	0	0	0	0	1	12498	639	23	1		1	PRDM15	21	43221625	Silent	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	5446483	43221625	4908270	262	5048											
CLTCL1	8218	genome.wustl.edu	37	chr22	19241719	19241719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccttcattttactcttcatCtcaatattaaagatctgaag	12	16	4	9	0	5	2	3	1	3	1	6	2	5	2	1	0	1	0	1	0	6	6			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr22:19241719C>G	ENST00000263200.10	-	3	354	c.282G>C	c.(280-282)gaG>gaC	p.E94D	CLTCL1_ENST00000427926.1_Missense_Mutation_p.E94D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E94D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	94	Globular terminal domain.|WD40-like repeat 2.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TACTCTTCATCTCAATATTAA	0.363			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													67	64	65					22																	19241719		1847	4107	5954	SO:0001583	missense	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.282G>C	22.37:g.19241719C>G	ENSP00000445677:p.Glu94Asp		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E94D	ENST00000263200.10	37	c.282	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129419	0.37630	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	3.9	1.71	0.24356	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.077823	0.50627	N	0.000116	T	0.52500	0.1738	L	0.48642	1.525	0.52099	D	0.999946	B;D	0.62365	0.058;0.991	B;D	0.80764	0.166;0.994	T	0.45498	-0.9257	10	0.27082	T	0.32	-8.6801	5.3904	0.16242	0.0:0.6507:0.1675:0.1818	.	94;94	P53675-2;P53675	.;CLH2_HUMAN	D	94;94;94;115	ENSP00000439662:E94D;ENSP00000445677:E94D;ENSP00000441158:E94D;ENSP00000443264:E115D	ENSP00000445677:E94D	E	-	3	2	CLTCL1	17621719	1.000000	0.71417	0.937000	0.37676	0.997000	0.91878	1.228000	0.32588	0.280000	0.22209	0.563000	0.77884	GAG	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.363	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0	39	0	C	NM_007098		19241719	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	missense	15.49	60	11	SNP	1.000	G	G	19241719	C	G	19241719	3	3	17	1	0	0	0	0	1	0	0	0	3574	912	32	5	4760	5	CLTCL1	22	19241719	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		19241719	32062847	263	5049											
TRMT2A	27037	genome.wustl.edu	37	chr22	20104018	20104018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggccctgtagccgcccCagcgccctctttctccacct	3	8	7	23	3	2	0	0	0	2	0	3	0	2	0	9	1	2	1	9	1	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr22:20104018C>T	ENST00000252136.7	-	2	530	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	TRMT2A_ENST00000404751.3_Missense_Mutation_p.G48R|TRMT2A_ENST00000439169.2_Missense_Mutation_p.G48R|TRMT2A_ENST00000403707.3_Missense_Mutation_p.G48R|RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|RANBP1_ENST00000430524.1_Intron	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	48					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						GTAGCCGCCCCAGCGCCCTCT	0.647																																																	0													20	26	24					22																	20104018		2153	4174	6327	SO:0001583	missense	0			BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"HpaII tiny fragments locus 9C"	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.142G>A	22.37:g.20104018C>T	ENSP00000252136:p.Gly48Arg		D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom	p.G48R	ENST00000252136.7	37	c.142	CCDS13774.1	22	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631863	0.67015	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.44881	0.91;0.91;0.91	4.35	2.11	0.27256	.	0.571146	0.17672	N	0.165927	T	0.31389	0.0795	L	0.50333	1.59	0.19300	N	0.999978	B;B;B	0.15141	0.012;0.003;0.003	B;B;B	0.10450	0.005;0.002;0.002	T	0.13656	-1.0501	10	0.29301	T	0.29	-24.2906	5.5016	0.16831	0.0:0.6113:0.1617:0.227	.	48;48;48	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	R	48;48;48;48;36	ENSP00000252136:G48R;ENSP00000385807:G48R;ENSP00000395738:G48R	ENSP00000252136:G48R	G	-	1	0	TRMT2A	18484018	0.001000	0.12720	0.002000	0.10522	0.035000	0.12851	1.155000	0.31700	1.072000	0.40860	0.491000	0.48974	GGG	TRMT2A	-	NULL	ENSG00000099899		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT2A	HGNC	protein_coding	OTTHUMT00000318168.3		0	57	0	C	NM_022727		20104018	-1			no_errors	ENST00000252136	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T	T	20104018	C	T	20104018	3	4	17	1	0	0	0	0	1	0	0	0	16613	594	21	3	1779	3	TRMT2A	22	20104018	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	862299	20104018	31200548	264	5050											
RFPL2	10739	genome.wustl.edu	37	chr22	32587193	32587193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtggcggccacaggtaaagcGaggggagcccaggatgcaaa	12	3	17	9	2	0	0	0	0	0	0	0	3	0	2	2	6	3	2	2	6	3	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr22:32587193G>C	ENST00000400237.1	-	5	1638	c.703C>G	c.(703-705)Cgc>Ggc	p.R235G	RFPL2_ENST00000248983.4_Missense_Mutation_p.R145G|RFPL2_ENST00000248980.4_Missense_Mutation_p.R174G|RFPL2_ENST00000400236.3_Missense_Mutation_p.R145G|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	235	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CAGGTAAAGCGAGGGGAGCCC	0.582																																																	0													93	89	91					22																	32587193		2203	4300	6503	SO:0001583	missense	0			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.703C>G	22.37:g.32587193G>C	ENSP00000383096:p.Arg235Gly			Missense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R235G	ENST00000400237.1	37	c.703	CCDS43009.2	22	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169144	0.01660	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	0.311	-0.622	0.11560	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.02267	0.0070	N	0.03281	-0.365	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.20384	0.029;0.025	T	0.47086	-0.9144	9	0.19590	T	0.45	.	2.176	0.03862	0.3173:0.3405:0.3422:0.0	.	235;174	O75678;O75678-3	RFPL2_HUMAN;.	G	174;145;145;235	ENSP00000248980:R174G;ENSP00000248983:R145G;ENSP00000383095:R145G;ENSP00000383096:R235G	ENSP00000248980:R174G	R	-	1	0	RFPL2	30917193	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	-0.002000	0.12924	-0.520000	0.06435	-0.507000	0.04495	CGC	RFPL2	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000128253		0.582	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	-	0	109	0	G	NM_006605		32587193	-1	tier1	-	no_errors	ENST00000400237	ensembl	human	known	74_37	missense	6.45	174	12	SNP	0.059	C	C	32587193	G	C	32587193	3	2	17	1	0	0	0	0	1	0	0	0	13299	1058	37	5	437	5	RFPL2	22	32587193	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	12483175	32587193	18717373	265	5051											
CSF2RB	1439	genome.wustl.edu	37	chr22	37326490	37326490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagctgctcctgggaggtGaggaaggaggtggccagctc	7	7	17	10	0	1	1	1	1	0	0	3	4	2	4	2	6	3	3	2	6	1	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr22:37326490G>A	ENST00000403662.3	+	7	1014	c.792G>A	c.(790-792)gtG>gtA	p.V264V	CSF2RB_ENST00000406230.1_Silent_p.V264V|CSF2RB_ENST00000262825.5_Silent_p.V264V|CSF2RB_ENST00000536485.1_Silent_p.V205V			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	264					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCTGGGAGGTGAGGAAGGAGG	0.607																																																	0													106	102	103					22																	37326490		2203	4300	6503	SO:0001819	synonymous_variant	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.792G>A	22.37:g.37326490G>A			Q5JZI1|Q6ICE0	Silent	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V264	ENST00000403662.3	37	c.792	CCDS13936.1	22																																																																																			CSF2RB	-	pirsf_IL3_rcpt_beta,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000100368		0.607	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	-	0	51	0	G	NM_000395		37326490	1	tier1	-	no_errors	ENST00000262825	ensembl	human	known	74_37	silent	22.78	61	18	SNP	0.994	A	A	37326490	G	A	37326490	2	1	17	1	0	0	0	0	0	0	0	1	3944	1277	45	3		3	CSF2RB	22	37326490	Silent	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4739297	37326490	13978076	266	5052											
ELFN2	114794	genome.wustl.edu	37	chr22	37770925	37770925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccggcaaactcccgcggcGactcacactgcaggcggtcg	8	4	13	16	6	1	0	1	0	0	0	3	1	2	0	2	4	3	2	2	4	1	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr22:37770925G>A	ENST00000402918.2	-	3	1435	c.650C>T	c.(649-651)tCg>tTg	p.S217L	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	217	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCCCGCGGCGACTCACACTG	0.632																																																	0													24	33	30					22																	37770925		2202	4298	6500	SO:0001583	missense	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.650C>T	22.37:g.37770925G>A	ENSP00000385277:p.Ser217Leu		Q96PY3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.S217L	ENST00000402918.2	37	c.650	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215511	0.58452	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.55234	0.53;0.53	4.96	4.96	0.65561	.	0.182670	0.46442	D	0.000300	T	0.44138	0.1279	L	0.39245	1.2	0.47183	D	0.999349	P	0.43750	0.816	B	0.34242	0.178	T	0.53143	-0.8480	10	0.59425	D	0.04	-9.2694	18.5971	0.91232	0.0:0.0:1.0:0.0	.	217	Q5R3F8	PPR29_HUMAN	L	217	ENSP00000300147:S217L;ENSP00000385277:S217L	ENSP00000300147:S217L	S	-	2	0	ELFN2	36100871	1.000000	0.71417	0.964000	0.40570	0.992000	0.81027	6.282000	0.72639	2.468000	0.83385	0.609000	0.83330	TCG	ELFN2	-	NULL	ENSG00000166897		0.632	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	-	0	126	0	G	NM_052906		37770925	-1	tier1	-	no_errors	ENST00000402918	ensembl	human	known	74_37	missense	15.08	169	30	SNP	1.000	A	A	37770925	G	A	37770925	3	1	17	1	0	0	0	0	1	0	0	0	5074	1059	37	1	1816	1	ELFN2	22	37770925	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	444435	37770925	13533641	267	5053											
BRD1	23774	genome.wustl.edu	37	chr22	50217944	50217944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcgctgcagagcctcgatGacatcgtcctttcctcctca	6	11	7	17	3	1	2	1	1	0	1	7	3	4	2	5	0	2	2	5	0	0	1			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chr22:50217944G>A	ENST00000216267.8	-	1	508	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000404760.1_Missense_Mutation_p.H8Y|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000457780.2_Missense_Mutation_p.H8Y|BRD1_ENST00000404034.1_Missense_Mutation_p.H8Y|BRD1_ENST00000542442.1_5'Flank	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	8					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGCCTCGATGACATCGTCCT	0.473																																																	0													89	85	86					22																	50217944		2203	4300	6503	SO:0001583	missense	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.22C>T	22.37:g.50217944G>A	ENSP00000216267:p.His8Tyr		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.H8Y	ENST00000216267.8	37	c.22	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318853	0.60524	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780	T;T;T;T	0.15603	2.6;2.6;2.58;2.41	4.81	4.81	0.61882	.	0.099373	0.64402	D	0.000002	T	0.35624	0.0938	M	0.61703	1.905	0.53005	D	0.999968	D;P;D	0.59357	0.974;0.949;0.985	P;P;P	0.58520	0.715;0.574;0.84	T	0.03249	-1.1056	9	.	.	.	.	18.0626	0.89382	0.0:0.0:1.0:0.0	.	8;8;8	Q86X06;O95696;O95696-2	.;BRD1_HUMAN;.	Y	8	ENSP00000216267:H8Y;ENSP00000384076:H8Y;ENSP00000385858:H8Y;ENSP00000410042:H8Y	.	H	-	1	0	BRD1	48603948	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	5.918000	0.69996	2.501000	0.84356	0.462000	0.41574	CAT	BRD1	-	NULL	ENSG00000100425		0.473	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	-	0	11	0	G	NM_014577		50217944	-1	tier1	-	no_errors	ENST00000216267	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A	A	50217944	G	A	50217944	3	1	17	1	0	0	0	0	1	0	0	0	1505	1290	45	3	3202	3	BRD1	22	50217944	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	12447019	50217944	1086622	268	5054											
FAM9B	171483	genome.wustl.edu	37	chrX	8997386	8997386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctcttcttcttcttcctCtttctgctcgtctgtgatgt	1	21	5	14	1	7	1	0	1	7	0	10	1	9	1	2	0	1	1	2	0	0	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:8997386C>G	ENST00000327220.5	-	6	719	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	FAM9B_ENST00000428477.1_Missense_Mutation_p.E119Q|FAM9B_ENST00000362066.3_Missense_Mutation_p.E159Q			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	119						nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				tcttcttcctcttTCTGCTCG	0.373																																																	0													226	165	186					X																	8997386		2203	4300	6503	SO:0001583	missense	0				CCDS14132.1	Xp22.31	2014-02-17			ENSG00000177138	ENSG00000177138			18404	protein-coding gene	gene with protein product	"testis expressed 39B"	300478				12213195, 21085121, 21998597, 22936694	Standard	XM_005274456		Approved	TEX39B	uc011mhu.2	Q8IZU0	OTTHUMG00000021114	ENST00000327220.5:c.355G>C	X.37:g.8997386C>G	ENSP00000318716:p.Glu119Gln		Q0IJ68|Q8N7Z8	Missense_Mutation	SNP	pfam_Cor1/Xlr/Xmr	p.E119Q	ENST00000327220.5	37	c.355	CCDS14132.1	X	.	.	.	.	.	.	.	.	.	.	C	5.957	0.360479	0.11296	.	.	ENSG00000177138	ENST00000362066;ENST00000327220;ENST00000428477	.	.	.	0.43	-0.86	0.10680	.	.	.	.	.	T	0.37758	0.1015	L	0.36672	1.1	0.09310	N	1	D;D	0.56287	0.975;0.975	D;D	0.63283	0.913;0.913	T	0.29243	-1.0018	7	0.19590	T	0.45	.	.	.	.	.	119;159	Q8IZU0;Q8N7Z8	FAM9B_HUMAN;.	Q	159;119;119	.	ENSP00000318716:E119Q	E	-	1	0	FAM9B	8957386	0.007000	0.16637	0.002000	0.10522	0.002000	0.02628	-0.358000	0.07641	-0.539000	0.06273	-0.545000	0.04230	GAG	FAM9B	-	pfam_Cor1/Xlr/Xmr	ENSG00000177138		0.373	FAM9B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9B	HGNC	protein_coding	OTTHUMT00000055702.2	-	0	43	0	C	NM_205849		8997386	-1	tier1	-	no_errors	ENST00000327220	ensembl	human	known	74_37	missense	13.33	65	10	SNP	0.002	G	G	8997386	C	G	8997386	3	3	17	1	0	0	0	0	1	0	0	0	5682	922	32	5	217	5	FAM9B	23	8997386	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09		8997386	146273174	269	5055											
BEND2	139105	genome.wustl.edu	37	chrX	18221839	18221839	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttccatggcataccgAaacaaggaaatgagccacct	16	7	8	10	1	0	1	0	1	0	0	1	3	1	2	4	2	3	2	4	2	6	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:18221839A>C	ENST00000380033.4	-	5	821	c.689T>G	c.(688-690)tTc>tGc	p.F230C	BEND2_ENST00000380030.3_Missense_Mutation_p.F230C	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	230										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGGCATACCGAAACAAGGAAA	0.453																																																	0													169	135	146					X																	18221839		2203	4300	6503	SO:0001583	missense	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.689T>G	X.37:g.18221839A>C	ENSP00000369372:p.Phe230Cys		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	pfam_BEN_domain	p.F230C	ENST00000380033.4	37	c.689	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	A	11.87	1.768223	0.31320	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.26223	1.78;1.75	2.69	-0.0333	0.13901	.	1.697700	0.04029	N	0.301048	T	0.29126	0.0724	N	0.19112	0.55	0.09310	N	1	D;D	0.56521	0.976;0.96	D;B	0.63381	0.914;0.429	T	0.13202	-1.0518	10	0.39692	T	0.17	0.2822	2.8761	0.05631	0.5817:0.2597:0.1586:0.0	.	230;230	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	C	230	ENSP00000369372:F230C;ENSP00000369369:F230C	ENSP00000369369:F230C	F	-	2	0	BEND2	18131760	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.146000	0.10250	-0.171000	0.10797	0.242000	0.17961	TTC	BEND2	-	NULL	ENSG00000177324		0.453	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	-	0	27	0	A	NM_153346		18221839	-1	tier1	-	no_errors	ENST00000380033	ensembl	human	known	74_37	missense	17.07	68	14	SNP	0.000	C	C	18221839	A	C	18221839	3	2	17	1	0	0	0	0	1	0	0	0	1399	246	9	4	1776	4	BEND2	23	18221839	Missense_Mutation	SNP	A	TCGA-IG-A3Y9-01A-12D-A247-09	9224453	18221839	137048721	270	5056											
SCML2	10389	genome.wustl.edu	37	chrX	18275038	18275038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaactaaaaggctggctactCaaaaggttatcacactgcag	15	8	9	9	0	2	0	2	0	0	0	2	1	2	0	0	3	3	4	0	3	7	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:18275038C>G	ENST00000251900.4	-	11	1545	c.1386G>C	c.(1384-1386)ttG>ttC	p.L462F	SCML2_ENST00000398048.3_Missense_Mutation_p.L198F	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	462					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GCTGGCTACTCAAAAGGTTAT	0.448																																					Esophageal Squamous(100;1252 1965 19021 35517)												0													148	136	140					X																	18275038		2203	4300	6503	SO:0001583	missense	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1386G>C	X.37:g.18275038C>G	ENSP00000251900:p.Leu462Phe		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.L462F	ENST00000251900.4	37	c.1386	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	C	3.063	-0.192903	0.06259	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.39592	1.07;1.07	5.44	4.5	0.54988	.	0.286793	0.32608	N	0.005871	T	0.15782	0.0380	N	0.01679	-0.765	0.39564	D	0.969177	B;B;B	0.33964	0.004;0.434;0.004	B;B;B	0.40741	0.015;0.339;0.023	T	0.36648	-0.9739	10	0.02654	T	1	.	6.5589	0.22476	0.4183:0.4409:0.1408:0.0	.	430;198;462	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	F	462;198;430	ENSP00000251900:L462F;ENSP00000381126:L198F	ENSP00000251900:L462F	L	-	3	2	SCML2	18184959	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.781000	0.47750	2.258000	0.74832	0.513000	0.50165	TTG	SCML2	-	pfam_DUF3588	ENSG00000102098		0.448	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1		0	14	0	C	NM_006089		18275038	-1			no_errors	ENST00000251900	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	G	G	18275038	C	G	18275038	3	3	17	1	0	0	0	0	1	0	0	0	13955	825	29	5	736	5	SCML2	23	18275038	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	53199	18275038	136995522	271	5057											
DDX3X	1654	genome.wustl.edu	37	chrX	41206955	41206955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attataactcccagggggttGactggtggggtaactgagcc	9	10	14	8	0	0	2	0	2	0	0	1	2	1	2	2	5	3	2	2	5	3	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:41206955G>C	ENST00000399959.2	+	17	2827	c.1972G>C	c.(1972-1974)Gac>Cac	p.D658H	DDX3X_ENST00000441189.2_Missense_Mutation_p.D135H|DDX3X_ENST00000457138.2_Missense_Mutation_p.D642H|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	658	Gly/Ser-rich.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CCAGGGGGTTGACTGGTGGGG	0.428										HNSCC(61;0.18)																																							0													76	81	79					X																	41206955		2203	4298	6501	SO:0001583	missense	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1972G>C	X.37:g.41206955G>C	ENSP00000382840:p.Asp658His		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D658H	ENST00000399959.2	37	c.1972	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	g	19.60	3.857238	0.71834	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000441189	T;T	0.24151	1.94;1.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50411	0.1614	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.997;0.99;0.99;0.99;0.99	T	0.50355	-0.8838	10	0.87932	D	0	-10.1125	18.8603	0.92268	0.0:0.0:1.0:0.0	.	135;528;642;670;658	B4DLA0;B4DLU5;B4E3E8;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	H	658;642;135	ENSP00000382840:D658H;ENSP00000392494:D642H	ENSP00000382840:D658H	D	+	1	0	DDX3X	41091899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.470000	0.97683	2.400000	0.81607	0.586000	0.80456	GAC	DDX3X	-	NULL	ENSG00000215301		0.428	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	-	0	16	0	G	NM_024005		41206955	1	tier1	-	no_errors	ENST00000399959	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	C	C	41206955	G	C	41206955	3	2	17	1	0	0	0	0	1	0	0	0	4367	1290	45	5	2038	5	DDX3X	23	41206955	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	22931917	41206955	114063605	272	5058											
ASB12	142689	genome.wustl.edu	37	chrX	63445264	63445264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgggctaagaggacttgCaaacagctcaagtggccata	13	7	11	10	0	1	1	1	0	0	1	1	2	1	2	2	3	3	3	2	3	4	3	rs34689841	byFrequency	TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:63445264C>A	ENST00000396130.2	-	1	239	c.240G>T	c.(238-240)ttG>ttT	p.L80F	ASB12_ENST00000362002.2_Missense_Mutation_p.L89F|MTMR8_ENST00000453546.1_Missense_Mutation_p.L464F			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	80					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						AGAGGACTTGCAAACAGCTCA	0.537																																																	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											73	48	57					X																	63445264		2203	4300	6503	SO:0001583	missense	0			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.240G>T	X.37:g.63445264C>A	ENSP00000379435:p.Leu80Phe		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L464F	ENST00000396130.2	37	c.1392		X	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014284	0.35511	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.66638	-0.22;-0.22;-0.22	3.56	2.7	0.31948	Ankyrin repeat-containing domain (4);	0.077595	0.53938	D	0.000059	T	0.76652	0.4017	M	0.74467	2.265	0.25154	N	0.990401	D;P	0.76494	0.999;0.873	D;P	0.72982	0.979;0.741	T	0.65768	-0.6088	10	0.87932	D	0	-16.2753	6.4162	0.21717	0.0:0.759:0.0:0.241	.	464;80	B4DQL0;Q8WXK4	.;ASB12_HUMAN	F	89;80;89;464	ENSP00000355195:L89F;ENSP00000379435:L80F;ENSP00000394003:L464F	ENSP00000354626:L89F	L	-	3	2	ASB12;MTMR8	63361989	0.578000	0.26717	0.125000	0.21846	0.381000	0.30169	0.220000	0.17660	0.677000	0.31305	0.529000	0.55759	TTG	MTMR8	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000102043		0.537	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	MTMR8	HGNC	protein_coding		-	0	16	0	C			63445264	-1	tier1	-	no_errors	ENST00000453546	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.957	A	A	63445264	C	A	63445264	3	1	17	1	0	0	0	0	1	0	0	0	1017	709	25	3	697	3	ASB12	23	63445264	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	22238309	63445264	91825296	273	5059											
P2RY4	5030	genome.wustl.edu	37	chrX	69478523	69478523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccaccacagagctgacGgagctgacgtcgatatttgt	10	8	11	12	3	0	3	0	2	0	1	1	5	0	4	3	1	2	2	3	1	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:69478523G>A	ENST00000374519.2	-	1	1131	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	318					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.R318C(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CAGAGCTGACGGAGCTGACGT	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											47	40	42					X																	69478523		2203	4300	6503	SO:0001583	missense	0			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.952C>T	X.37:g.69478523G>A	ENSP00000363643:p.Arg318Cys		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt	p.R318C	ENST00000374519.2	37	c.952	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568998	0.28003	.	.	ENSG00000186912	ENST00000374519	T	0.25085	1.82	4.7	1.78	0.24846	.	1.012330	0.07916	U	0.975151	T	0.16128	0.0388	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.46452	0.517	T	0.20042	-1.0287	10	0.33141	T	0.24	.	7.738	0.28825	0.2628:0.0:0.7372:0.0	.	318	P51582	P2RY4_HUMAN	C	318	ENSP00000363643:R318C	ENSP00000363643:R318C	R	-	1	0	P2RY4	69395248	0.951000	0.32395	0.019000	0.16419	0.334000	0.28698	2.378000	0.44309	0.042000	0.15717	0.589000	0.80489	CGT	P2RY4	-	prints_P2Y4_rcpt	ENSG00000186912		0.622	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	-	0	40	0	G	NM_002565		69478523	-1	tier1	-	no_errors	ENST00000374519	ensembl	human	known	74_37	missense	33.33	44	22	SNP	0.023	A	A	69478523	G	A	69478523	3	1	17	1	0	0	0	0	1	0	0	0	11392	1116	39	1	149	1	P2RY4	23	69478523	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	6033259	69478523	85792037	274	5060											
ZMYM3	9203	genome.wustl.edu	37	chrX	70471431	70471431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaggcggcttctcactcgCcttcgcagtcaggccatctc	5	11	9	16	3	4	0	3	0	2	0	8	0	4	0	2	3	0	2	2	3	0	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:70471431C>T	ENST00000353904.2	-	3	875	c.688G>A	c.(688-690)Gcg>Acg	p.A230T	ZMYM3_ENST00000373978.1_Missense_Mutation_p.A230T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A230T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.A230T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.A230T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.A230T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A230T|ZMYM3_ENST00000373981.1_Missense_Mutation_p.A230T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	230					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTCTCACTCGCCTTCGCAGTC	0.612																																																	0													52	31	38					X																	70471431		2200	4293	6493	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.688G>A	X.37:g.70471431C>T	ENSP00000343909:p.Ala230Thr		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.A230T	ENST00000353904.2	37	c.688	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	c	13.24	2.179181	0.38511	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T	0.44083	1.52;0.93;1.52;1.52;1.51;0.93;0.93	4.3	2.33	0.28932	.	0.683194	0.13647	N	0.372541	T	0.19005	0.0456	N	0.08118	0	0.19775	N	0.99996	B;B;B	0.27559	0.181;0.065;0.001	B;B;B	0.19148	0.024;0.017;0.0	T	0.18178	-1.0345	10	0.15499	T	0.54	-2.264	8.6745	0.34170	0.0:0.7784:0.0:0.2216	.	230;230;230	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	230	ENSP00000322845:A230T;ENSP00000363110:A230T;ENSP00000343909:A230T;ENSP00000363096:A230T;ENSP00000363100:A230T;ENSP00000363094:A230T;ENSP00000363093:A230T	ENSP00000322845:A230T	A	-	1	0	ZMYM3	70388156	1.000000	0.71417	0.991000	0.47740	0.977000	0.68977	2.954000	0.49113	0.836000	0.34901	0.425000	0.28330	GCG	ZMYM3	-	NULL	ENSG00000147130		0.612	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0	18	0	C	NM_201599		70471431	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	50.00	20	20	SNP	0.881	T	T	70471431	C	T	70471431	3	4	17	1	0	0	0	0	1	0	0	0	17749	739	26	3	3534	3	ZMYM3	23	70471431	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	992908	70471431	84799129	275	5061											
SLC16A2	6567	genome.wustl.edu	37	chrX	73749129	73749129	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggccttatcgtcgtctgtCttttcctgggcctttgcgat	2	16	12	11	3	2	0	0	0	2	0	5	1	3	0	3	3	1	0	3	3	1	4			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:73749129C>G	ENST00000587091.1	+	5	1429	c.1252C>G	c.(1252-1254)Ctt>Gtt	p.L418V	SLC16A2_ENST00000276033.5_Missense_Mutation_p.L492V	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	418					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CGTCGTCTGTCTTTTCCTGGG	0.577																																																	0													114	101	105					X																	73749129		2203	4300	6503	SO:0001583	missense	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1252C>G	X.37:g.73749129C>G	ENSP00000465734:p.Leu418Val		Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L492V	ENST00000587091.1	37	c.1474	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655052	0.29425	.	.	ENSG00000147100	ENST00000276033	T	0.32988	1.43	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.200055	0.43110	D	0.000619	T	0.29028	0.0721	L	0.43757	1.38	0.46149	D	0.998898	B	0.23806	0.091	B	0.31101	0.124	T	0.06481	-1.0824	10	0.35671	T	0.21	.	11.8302	0.52290	0.0:0.9177:0.0:0.0823	.	418	P36021	MOT8_HUMAN	V	492	ENSP00000276033:L492V	ENSP00000276033:L492V	L	+	1	0	SLC16A2	73665854	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.403000	0.44530	2.269000	0.75478	0.529000	0.55759	CTT	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000147100		0.577	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	-	0	34	0	C			73749129	1	tier1	-	no_errors	ENST00000276033	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	G	G	73749129	C	G	73749129	3	3	17	1	0	0	0	0	1	0	0	0	14453	913	32	5	1492	5	SLC16A2	23	73749129	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	3277698	73749129	81521431	276	5062											
BRWD3	254065	genome.wustl.edu	37	chrX	80001094	80001094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattcttctcccgcttcggtCaaatgctacacagtagacag	11	11	7	12	2	3	1	1	0	2	1	5	1	3	1	1	1	2	3	1	1	4	5			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:80001094C>G	ENST00000373275.4	-	7	781	c.565G>C	c.(565-567)Gac>Cac	p.D189H		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	189					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCGCTTCGGTCAAATGCTACA	0.378																																																	0													38	34	35					X																	80001094		2203	4299	6502	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.565G>C	X.37:g.80001094C>G	ENSP00000362372:p.Asp189His		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.D189H	ENST00000373275.4	37	c.565	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588147	0.86851	.	.	ENSG00000165288	ENST00000373275	T	0.59083	0.29	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60209	0.2251	N	0.12663	0.25	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61608	-0.7028	9	.	.	.	-11.8405	17.6227	0.88086	0.0:1.0:0.0:0.0	.	189	Q6RI45	BRWD3_HUMAN	H	189	ENSP00000362372:D189H	.	D	-	1	0	BRWD3	79887750	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.590000	0.82653	2.348000	0.79779	0.544000	0.68410	GAC	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0	35	0	C	NM_153252		80001094	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	G	G	80001094	C	G	80001094	3	3	17	1	0	0	0	0	1	0	0	0	1530	826	29	5	4983	5	BRWD3	23	80001094	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	6251965	80001094	75269466	277	5063											
DIAPH2	1730	genome.wustl.edu	37	chrX	96502803	96502803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagaaattcccccaagcaGaaaatcaacacgataagttt	18	8	5	10	1	2	2	2	0	0	2	3	3	3	2	2	0	2	2	2	0	7	3			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:96502803G>C	ENST00000324765.8	+	23	3156	c.2809G>C	c.(2809-2811)Gaa>Caa	p.E937Q	DIAPH2_ENST00000373054.4_Missense_Mutation_p.E933Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E937Q|DIAPH2_ENST00000373061.3_Missense_Mutation_p.E937Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E937Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	937	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCCCCAAGCAGAAAATCAACA	0.348																																																	0													153	129	137					X																	96502803		2203	4300	6503	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2809G>C	X.37:g.96502803G>C	ENSP00000321348:p.Glu937Gln		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.E937Q	ENST00000324765.8	37	c.2809	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	7.442	0.640933	0.14386	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	5.66	4.79	0.61399	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.073797	0.56097	D	0.000025	T	0.09642	0.0237	N	0.17838	0.53	0.37933	D	0.932067	B;B	0.16603	0.018;0.015	B;B	0.18871	0.023;0.013	T	0.13098	-1.0522	10	0.07644	T	0.81	.	10.5793	0.45246	0.0754:0.1312:0.7935:0.0	.	937;937	O60879;O60879-2	DIAP2_HUMAN;.	Q	937;933;937;937;937;944	ENSP00000362152:E937Q;ENSP00000362145:E933Q;ENSP00000348082:E937Q;ENSP00000362140:E937Q;ENSP00000321348:E937Q	ENSP00000321348:E937Q	E	+	1	0	DIAPH2	96389459	1.000000	0.71417	0.533000	0.28001	0.284000	0.27059	4.862000	0.62976	2.523000	0.85059	0.594000	0.82650	GAA	DIAPH2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000147202		0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0	53	0	G	NM_006729, NM_007309		96502803	1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	18.07	68	15	SNP	0.957	C	C	96502803	G	C	96502803	3	2	17	1	0	0	0	0	1	0	0	0	4533	943	33	5	2899	5	DIAPH2	23	96502803	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	16501709	96502803	58767757	278	5064											
COL4A6	1288	genome.wustl.edu	37	chrX	107400267	107400267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacctggcagcgactgactCgagtgtggagctgcccagct	8	7	13	13	2	0	1	0	1	0	0	1	4	0	2	2	2	4	3	2	2	0	0			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:107400267C>T	ENST00000372216.4	-	45	5139	c.5039G>A	c.(5038-5040)cGa>cAa	p.R1680Q	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1655Q|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1679Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1680Q|COL4A6_ENST00000418180.1_Missense_Mutation_p.R214Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1622Q	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1680	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCGACTGACTCGAGTGTGGAG	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													80	76	78					X																	107400267		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.5039G>A	X.37:g.107400267C>T	ENSP00000361290:p.Arg1680Gln		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R1680Q	ENST00000372216.4	37	c.5039	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945584	0.53079	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	4.99	4.99	0.66335	C-type lectin fold (1);	0.000000	0.34853	N	0.003630	D	0.92708	0.7682	M	0.83774	2.66	0.37392	D	0.912485	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.75020	0.975;0.953;0.975;0.985;0.975	D	0.94492	0.7702	10	0.54805	T	0.06	.	18.0603	0.89374	0.0:1.0:0.0:0.0	.	1655;214;1622;1680;1679	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	Q	214;1680;1679;1680;1667;1655;1622	ENSP00000406002:R214Q;ENSP00000361290:R1680Q;ENSP00000334733:R1679Q;ENSP00000378340:R1680Q;ENSP00000443707:R1655Q;ENSP00000445236:R1622Q	ENSP00000334733:R1679Q	R	-	2	0	COL4A6	107286923	0.990000	0.36364	0.989000	0.46669	0.632000	0.37999	3.233000	0.51311	2.396000	0.81511	0.513000	0.50165	CGA	COL4A6	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000197565		0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0	19	0	C			107400267	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.967	T	T	107400267	C	T	107400267	3	4	17	1	0	0	0	0	1	0	0	0	3702	884	31	1	40	1	COL4A6	23	107400267	Missense_Mutation	SNP	C	TCGA-IG-A3Y9-01A-12D-A247-09	10897464	107400267	47870293	279	5065											
AMOT	154796	genome.wustl.edu	37	chrX	112058657	112058657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttccggttctcgtctgagaGgatctcaaccatctgctggg	6	12	12	11	2	4	1	1	1	4	1	7	3	5	2	2	3	2	3	2	3	1	2			TCGA-IG-A3Y9-01A-12D-A247-09	TCGA-IG-A3Y9-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d490dc67-08e6-4d8e-b641-c405b20d86e1	98880f6a-bdae-4313-8eff-525d22ab97a5	g.chrX:112058657G>A	ENST00000524145.1	-	3	1395	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	AMOT_ENST00000371959.3_Missense_Mutation_p.L441F|AMOT_ENST00000371958.1_Missense_Mutation_p.L209F|AMOT_ENST00000371962.1_Missense_Mutation_p.L209F|AMOT_ENST00000304758.1_Missense_Mutation_p.L32F			Q4VCS5	AMOT_HUMAN	angiomotin	441					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGTCTGAGAGGATCTCAACC	0.522																																																	0													213	190	198					X																	112058657		2203	4300	6503	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1321C>T	X.37:g.112058657G>A	ENSP00000429013:p.Leu441Phe		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.L441F	ENST00000524145.1	37	c.1321	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668489	0.88348	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.47177	1.0;0.85;0.85;0.85;0.85	5.31	5.31	0.75309	.	0.141884	0.49305	D	0.000146	T	0.71945	0.3400	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76686	-0.2868	10	0.87932	D	0	-10.123	16.9259	0.86176	0.0:0.0:1.0:0.0	.	441	Q4VCS5	AMOT_HUMAN	F	32;441;209;441;209	ENSP00000305557:L32F;ENSP00000361027:L441F;ENSP00000361030:L209F;ENSP00000429013:L441F;ENSP00000361026:L209F	ENSP00000305557:L32F	L	-	1	0	AMOT	111945313	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.706000	0.84615	2.463000	0.83235	0.600000	0.82982	CTC	AMOT	-	superfamily_Prefoldin	ENSG00000126016		0.522	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	-	0	29	0	G	NM_133265		112058657	-1	tier1	-	no_errors	ENST00000371959	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	A	A	112058657	G	A	112058657	3	1	17	1	0	0	0	0	1	0	0	0	582	1000	35	3	1973	3	AMOT	23	112058657	Missense_Mutation	SNP	G	TCGA-IG-A3Y9-01A-12D-A247-09	4658390	112058657	43211903	280	5066											
PADI1	29943	genome.wustl.edu	37	chr1	17555281	17555281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccctcagtgtcagcctgGtggacccgggggtgtgtaca	5	11	14	11	1	2	0	2	0	0	0	3	1	3	1	3	4	2	1	3	4	1	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:17555281G>T	ENST00000375471.4	+	7	906	c.814G>T	c.(814-816)Gtg>Ttg	p.V272L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	272					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TGTCAGCCTGGTGGACCCGGG	0.652																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													78	80	79					1																	17555281		2203	4300	6503	SO:0001583	missense	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.814G>T	1.37:g.17555281G>T	ENSP00000364620:p.Val272Leu		A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.V272L	ENST00000375471.4	37	c.814	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	G	2.828	-0.243321	0.05906	.	.	ENSG00000142623	ENST00000375471	T	0.13778	2.56	4.97	-0.822	0.10819	Protein-arginine deiminase (PAD), central domain (2);	0.342924	0.27961	N	0.017142	T	0.04318	0.0119	N	0.11651	0.15	0.80722	D	1	B	0.12630	0.006	B	0.18263	0.021	T	0.41787	-0.9489	10	0.02654	T	1	-11.9408	4.5133	0.11923	0.0899:0.476:0.2358:0.1984	.	272	Q9ULC6	PADI1_HUMAN	L	272	ENSP00000364620:V272L	ENSP00000364620:V272L	V	+	1	0	PADI1	17427868	0.766000	0.28496	0.998000	0.56505	0.788000	0.44548	0.034000	0.13776	0.423000	0.26033	0.561000	0.74099	GTG	PADI1	-	pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub	ENSG00000142623		0.652	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	-	0	55	0	G	NM_013358		17555281	1	tier1	-	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.999	T	T	17555281	G	T	17555281	3	4	18	1	0	0	0	0	1	0	0	0	11416	1261	44	3	840	3	PADI1	1	17555281	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		17555281	231695340	1	5067											
KIF17	57576	genome.wustl.edu	37	chr1	20998480	20998480	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgggatcttccagaaGccgttatcttcgtcccagca	8	11	11	11	2	2	1	0	0	2	1	5	3	4	3	3	2	2	2	3	2	2	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:20998480G>A	ENST00000247986.2	-	12	2983	c.2673C>T	c.(2671-2673)ggC>ggT	p.G891G	KIF17_ENST00000375044.1_Silent_p.G791G|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.G891G			Q9P2E2	KIF17_HUMAN	kinesin family member 17	891					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCAGAAGCCGTTATCTT	0.582																																																	0													131	119	123					1																	20998480		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2673C>T	1.37:g.20998480G>A			A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G891	ENST00000247986.2	37	c.2673	CCDS213.1	1																																																																																			KIF17	-	NULL	ENSG00000117245		0.582	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	-	0	91	0	G	NM_020816		20998480	-1	tier1	-	no_errors	ENST00000247986	ensembl	human	known	74_37	silent	12.75	130	19	SNP	1.000	A	A	20998480	G	A	20998480	2	1	18	1	0	0	0	0	0	0	0	1	8306	958	34	3		3	KIF17	1	20998480	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	3443199	20998480	228252141	2	5068											
BAI2	576	genome.wustl.edu	37	chr1	32196688	32196688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacctccacccccacCgccaggctgcaggctcaaag	9	4	7	21	1	2	0	2	0	0	0	3	0	3	0	7	2	1	3	7	2	1	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:32196688C>T	ENST00000373658.3	-	29	4434	c.4093G>A	c.(4093-4095)Ggt>Agt	p.G1365S	BAI2_ENST00000398547.1_Missense_Mutation_p.G1298S|BAI2_ENST00000527361.1_Missense_Mutation_p.G1332S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398556.3_Missense_Mutation_p.G1280S|BAI2_ENST00000257070.4_Missense_Mutation_p.G1332S|BAI2_ENST00000398538.1_Missense_Mutation_p.G1353S|BAI2_ENST00000440175.2_Missense_Mutation_p.G974S|BAI2_ENST00000373655.2_Missense_Mutation_p.G1365S|BAI2_ENST00000398542.1_Missense_Mutation_p.G1265S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1365	Poly-Gly.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CCACCCCCACCGCCAGGCTGC	0.701																																																	0													8	9	9					1																	32196688		2148	4227	6375	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4093G>A	1.37:g.32196688C>T	ENSP00000362762:p.Gly1365Ser		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1365S	ENST00000373658.3	37	c.4093	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	c	2.855	-0.237343	0.05944	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.41758	1.67;1.87;1.05;1.05;2.03;0.99;0.99;1.68;1.07	5.34	-6.76	0.01732	.	0.690561	0.12662	N	0.449516	T	0.24736	0.0600	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B;B;B	0.13145	0.0;0.0;0.007;0.0;0.003;0.0;0.004	B;B;B;B;B;B;B	0.14023	0.001;0.001;0.002;0.001;0.01;0.0;0.001	T	0.36625	-0.9740	10	0.09590	T	0.72	.	10.4467	0.44499	0.0:0.3594:0.0879:0.5528	.	1332;1353;974;1280;1365;1365;1353	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	S	1280;1298;1365;1365;1265;1332;1332;974;1353	ENSP00000381564:G1280S;ENSP00000381555:G1298S;ENSP00000362762:G1365S;ENSP00000362759:G1365S;ENSP00000381550:G1265S;ENSP00000257070:G1332S;ENSP00000435397:G1332S;ENSP00000391071:G974S;ENSP00000381548:G1353S	ENSP00000257070:G1332S	G	-	1	0	BAI2	31969275	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-0.446000	0.06837	-1.792000	0.01259	-1.982000	0.00454	GGT	BAI2	-	NULL	ENSG00000121753		0.701	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	39	0	C	NM_001703		32196688	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	30.77	45	20	SNP	0.000	T	T	32196688	C	T	32196688	3	4	18	1	0	0	0	0	1	0	0	0	1300	652	23	1	684	1	BAI2	1	32196688	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	11198208	32196688	217053933	3	5069											
DMRTB1	63948	genome.wustl.edu	37	chr1	53930386	53930386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgccgccccttccacCgcttccaccgcagccccagt	5	6	7	23	3	0	0	0	0	0	0	2	0	2	0	10	0	2	2	10	0	0	2	rs150466113		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:53930386C>A	ENST00000371445.3	+	3	882	c.827C>A	c.(826-828)cCg>cAg	p.P276Q		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	276	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ccCCTTCCACCGCTTCCACCG	0.667																																																	0													45	49	48					1																	53930386		2203	4300	6503	SO:0001583	missense	0			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.827C>A	1.37:g.53930386C>A	ENSP00000360500:p.Pro276Gln		Q96SD2	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P276Q	ENST00000371445.3	37	c.827	CCDS581.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711403	0.30322	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.49139	0.79	2.08	-0.397	0.12423	.	.	.	.	.	T	0.39279	0.1072	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	P	0.52514	0.701	T	0.22452	-1.0216	9	0.54805	T	0.06	2.7883	2.0845	0.03642	0.2896:0.4783:0.0:0.2321	.	276	Q96MA1	DMRTB_HUMAN	Q	276;123	ENSP00000360500:P276Q	ENSP00000360500:P276Q	P	+	2	0	DMRTB1	53702974	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.168000	0.09925	-0.061000	0.13110	0.455000	0.32223	CCG	DMRTB1	-	NULL	ENSG00000143006		0.667	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTB1	HGNC	protein_coding	OTTHUMT00000022110.1	-	0	123	0	C			53930386	1	tier1	-	no_errors	ENST00000371445	ensembl	human	known	74_37	missense	7.88	152	13	SNP	0.001	A	A	53930386	C	A	53930386	3	1	18	1	0	0	0	0	1	0	0	0	4604	652	23	2	837	2	DMRTB1	1	53930386	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	21733698	53930386	195320235	4	5070											
OLFM3	118427	genome.wustl.edu	37	chr1	102270448	102270448	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacgaacaattttattgttAgtataactgtccatgtacca	13	15	5	8	1	1	0	1	0	0	0	2	1	2	0	2	0	3	3	2	0	7	7			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:102270448A>T	ENST00000338858.5	-	6	782	c.783T>A	c.(781-783)acT>acA	p.T261T	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Silent_p.T241T|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	261	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTTTATTGTTAGTATAACTGT	0.378																																																	0													52	50	51					1																	102270448		2203	4297	6500	SO:0001819	synonymous_variant	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.783T>A	1.37:g.102270448A>T			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Silent	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.T261	ENST00000338858.5	37	c.783		1																																																																																			OLFM3	-	pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	ENSG00000118733		0.378	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	-	0	43	0	A			102270448	-1	tier1	-	no_errors	ENST00000338858	ensembl	human	known	74_37	silent	20.41	39	10	SNP	0.994	T	T	102270448	A	T	102270448	2	4	18	1	0	0	0	0	0	0	0	1	10893	407	15	5		5	OLFM3	1	102270448	Silent	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	48340062	102270448	146980173	5	5071											
IGSF3	3321	genome.wustl.edu	37	chr1	117142808	117142808	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccgggtgaaggtcaccAagtcatggaactccaccgtg	9	7	12	13	3	2	1	2	1	0	0	4	2	4	2	4	3	1	0	4	3	3	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:117142808A>T	ENST00000369486.3	-	7	2549	c.1784T>A	c.(1783-1785)tTg>tAg	p.L595*	IGSF3_ENST00000318837.6_Nonsense_Mutation_p.L615*|IGSF3_ENST00000369483.1_Nonsense_Mutation_p.L615*	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	595	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAAGGTCACCAAGTCATGGAA	0.612																																																	0													25	26	26					1																	117142808		2203	4297	6500	SO:0001587	stop_gained	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1784T>A	1.37:g.117142808A>T	ENSP00000358498:p.Leu595*		A6NJZ6|A6NMC7	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L615*	ENST00000369486.3	37	c.1844	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	A	39	7.818438	0.98507	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	.	.	.	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.5993	11.9372	0.52880	1.0:0.0:0.0:0.0	.	.	.	.	X	595;615;615	.	ENSP00000321184:L615X	L	-	2	0	IGSF3	116944331	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.502000	0.90505	1.907000	0.55213	0.374000	0.22700	TTG	IGSF3	-	smart_Ig_sub	ENSG00000143061		0.612	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0	67	0	A	NM_001542		117142808	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	nonsense	15.48	71	13	SNP	1.000	T	T	117142808	A	T	117142808	4	4	18	1	0	0	0	0	0	1	0	0	7628	131	5	5	1820	5	IGSF3	1	117142808	Nonsense_Mutation	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	14872360	117142808	132107813	6	5072											
OTUD7B	56957	genome.wustl.edu	37	chr1	149916658	149916658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccagtgtctcagtgcCgctgcttcctcccaaccctg	4	12	7	18	1	2	0	1	0	2	0	6	0	4	0	5	0	3	2	5	0	1	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:149916658C>T	ENST00000369135.4	-	12	1924	c.1630G>A	c.(1630-1632)Ggc>Agc	p.G544S		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	544					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTCTCAGTGCCGCTGCTTCCT	0.582																																																	0													105	109	108					1																	149916658		2005	4190	6195	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1630G>A	1.37:g.149916658C>T	ENSP00000358131:p.Gly544Ser		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.G544S	ENST00000369135.4	37	c.1630	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471493	0.26423	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.35789	1.29	4.86	3.93	0.45458	.	0.809562	0.11271	N	0.581514	T	0.11067	0.0270	N	0.22421	0.69	0.44030	D	0.996758	B	0.31837	0.342	B	0.22753	0.041	T	0.08889	-1.0700	9	.	.	.	-11.2761	13.5571	0.61765	0.1566:0.8434:0.0:0.0	.	544	Q6GQQ9	OTU7B_HUMAN	S	544	ENSP00000358131:G544S	.	G	-	1	0	OTUD7B	148183282	0.970000	0.33590	0.966000	0.40874	0.499000	0.33736	3.576000	0.53878	1.233000	0.43693	0.455000	0.32223	GGC	OTUD7B	-	NULL	ENSG00000163113		0.582	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0	44	0	C	NM_020205		149916658	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	T	T	149916658	C	T	149916658	3	4	18	1	0	0	0	0	1	0	0	0	11358	652	23	1	905	1	OTUD7B	1	149916658	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	32773850	149916658	99333963	7	5073											
HRNR	388697	genome.wustl.edu	37	chr1	152195673	152195673	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatactccccatgctgggtGgcatattggtagaaaacatc	11	11	9	10	0	1	1	1	0	0	1	3	1	2	1	2	3	3	3	2	3	5	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:152195673G>T	ENST00000368801.2	-	2	132	c.57C>A	c.(55-57)gcC>gcA	p.A19A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCTGGGTGGCATATTGGT	0.418																																																	0													171	156	161					1																	152195673		2203	4300	6503	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.57C>A	1.37:g.152195673G>T			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.A19	ENST00000368801.2	37	c.57	CCDS30859.1	1																																																																																			HRNR	-	pfam_S100_Ca-bd_sub	ENSG00000197915		0.418	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	85	0	G	XM_373868		152195673	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	9.59	65	7	SNP	0.327	T	T	152195673	G	T	152195673	2	4	18	1	0	0	0	0	0	0	0	1	7386	1335	47	3		3	HRNR	1	152195673	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	2279015	152195673	97054948	8	5074											
FLG	2312	genome.wustl.edu	37	chr1	152282420	152282420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgattgtctggagctctCtgcagagtgcccatgactgg	6	11	13	11	0	2	3	0	2	2	1	3	4	2	4	2	2	3	2	2	2	0	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:152282420C>G	ENST00000368799.1	-	3	4977	c.4942G>C	c.(4942-4944)Gag>Cag	p.E1648Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1648	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTCTCTGCAGAGTGC	0.537									Ichthyosis																																								0													231	236	234					1																	152282420		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4942G>C	1.37:g.152282420C>G	ENSP00000357789:p.Glu1648Gln		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.E1648Q	ENST00000368799.1	37	c.4942	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	6.520	0.464110	0.12402	.	.	ENSG00000143631	ENST00000368799	T	0.00882	5.58	3.03	0.818	0.18778	.	.	.	.	.	T	0.00300	0.0009	L	0.41236	1.265	0.09310	N	1	B	0.24618	0.107	B	0.18871	0.023	T	0.32851	-0.9891	9	0.14656	T	0.56	.	7.6128	0.28139	0.4548:0.5451:0.0:0.0	.	1648	P20930	FILA_HUMAN	Q	1648	ENSP00000357789:E1648Q	ENSP00000357789:E1648Q	E	-	1	0	FLG	150549044	0.010000	0.17322	0.000000	0.03702	0.012000	0.07955	0.821000	0.27338	0.057000	0.16193	0.306000	0.20318	GAG	FLG	-	NULL	ENSG00000143631		0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	202	0	C	NM_002016		152282420	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	11.79	171	23	SNP	0.000	G	G	152282420	C	G	152282420	3	3	18	1	0	0	0	0	1	0	0	0	5944	922	32	5	7247	5	FLG	1	152282420	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	86747	152282420	96968201	9	5075											
TAF5L	27097	genome.wustl.edu	37	chr1	229730759	229730759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaccctgagctgtccGcgaggaacctcgtgctgtac	9	7	12	13	3	0	2	0	1	0	1	2	4	1	3	3	1	6	4	3	1	3	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:229730759G>A	ENST00000366676.1	-	4	1054	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	TAF5L_ENST00000258281.2_Missense_Mutation_p.A352V			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	352					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TGAGCTGTCCGCGAGGAACCT	0.537																																																	0													112	99	103					1																	229730759		2203	4300	6503	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1055C>T	1.37:g.229730759G>A	ENSP00000355636:p.Ala352Val		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A352V	ENST00000366676.1	37	c.1055	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707888	0.68615	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.60299	0.2;0.2	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.353879	0.33235	N	0.005127	T	0.60689	0.2288	M	0.64997	1.995	0.49483	D	0.99979	B	0.22080	0.064	B	0.22386	0.039	T	0.57854	-0.7739	10	0.66056	D	0.02	-0.5473	20.2422	0.98381	0.0:0.0:1.0:0.0	.	352	O75529	TAF5L_HUMAN	V	352	ENSP00000355636:A352V;ENSP00000258281:A352V	ENSP00000258281:A352V	A	-	2	0	TAF5L	227797382	1.000000	0.71417	0.092000	0.20876	0.852000	0.48524	9.860000	0.99555	2.782000	0.95742	0.655000	0.94253	GCG	TAF5L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000135801		0.537	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0	45	0	G	NM_014409		229730759	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.924	A	A	229730759	G	A	229730759	3	1	18	1	0	0	0	0	1	0	0	0	15576	1087	38	1	718	1	TAF5L	1	229730759	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	77448339	229730759	19519862	10	5076											
HEATR1	55127	genome.wustl.edu	37	chr1	236760260	236760260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgagctgagctgcccGggtactcagcaaaaacctga	12	7	10	12	1	2	3	2	3	0	0	2	3	2	3	2	1	7	4	2	1	4	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:236760260G>T	ENST00000366582.3	-	6	734	c.620C>A	c.(619-621)cCg>cAg	p.P207Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.P207Q|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	207					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGAGCTGCCCGGGTACTCAGC	0.493																																																	0													90	91	91					1																	236760260		2203	4300	6503	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.620C>A	1.37:g.236760260G>T	ENSP00000355541:p.Pro207Gln		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.P207Q	ENST00000366582.3	37	c.620	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064368	0.55432	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.41758	0.99;0.99	5.53	4.61	0.57282	.	0.364796	0.30611	N	0.009260	T	0.45518	0.1346	L	0.57536	1.79	0.47009	D	0.999285	D	0.58268	0.982	P	0.46339	0.513	T	0.41538	-0.9503	10	0.33940	T	0.23	.	15.5893	0.76512	0.0:0.0:0.8609:0.1391	.	207	Q9H583	HEAT1_HUMAN	Q	207	ENSP00000355541:P207Q;ENSP00000355540:P207Q	ENSP00000355540:P207Q	P	-	2	0	HEATR1	234826883	0.998000	0.40836	0.060000	0.19600	0.748000	0.42578	3.481000	0.53179	1.299000	0.44798	0.655000	0.94253	CCG	HEATR1	-	NULL	ENSG00000119285		0.493	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1		0	41	0	G	XM_375853		236760260	-1			no_errors	ENST00000366582	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.214	T	T	236760260	G	T	236760260	3	4	18	1	0	0	0	0	1	0	0	0	7054	1116	39	2	5974	2	HEATR1	1	236760260	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	7029501	236760260	12490361	11	5077											
OR2T2	401992	genome.wustl.edu	37	chr1	248616580	248616580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatgggttcatgctgaCtcctgtcactatgagtttcc	6	15	10	10	0	2	2	2	2	0	0	4	3	4	3	2	2	1	3	2	2	1	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr1:248616580C>T	ENST00000342927.3	+	1	504	c.482C>T	c.(481-483)aCt>aTt	p.T161I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCATGCTGACTCCTGTCACT	0.517																																																	0													23	29	27					1																	248616580		2178	4268	6446	SO:0001583	missense	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.482C>T	1.37:g.248616580C>T	ENSP00000343062:p.Thr161Ile		B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T161I	ENST00000342927.3	37	c.482	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	c	8.035	0.762661	0.15914	.	.	ENSG00000196240	ENST00000342927	T	0.00245	8.45	3.72	-0.647	0.11468	GPCR, rhodopsin-like superfamily (1);	0.133396	0.34200	N	0.004167	T	0.00300	0.0009	M	0.69463	2.115	0.09310	N	1	D	0.62365	0.991	D	0.65573	0.936	T	0.53739	-0.8396	10	0.62326	D	0.03	.	1.4313	0.02334	0.1479:0.4461:0.145:0.261	.	161	Q6IF00	OR2T2_HUMAN	I	161	ENSP00000343062:T161I	ENSP00000343062:T161I	T	+	2	0	OR2T2	246683203	0.000000	0.05858	0.002000	0.10522	0.145000	0.21501	-0.061000	0.11693	-0.332000	0.08489	0.449000	0.29647	ACT	OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196240		0.517	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	-	0	57	0	C	NM_001004136		248616580	1	tier1	-	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.000	T	T	248616580	C	T	248616580	3	4	18	1	0	0	0	0	1	0	0	0	11059	565	20	3	484	3	OR2T2	1	248616580	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	11856320	248616580	634041	12	5078											
ROCK2	9475	genome.wustl.edu	37	chr2	11351835	11351835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttctgatttggcttcttcGatggactcatagatcttatt	7	18	8	8	1	4	2	1	1	3	1	5	4	4	3	0	2	0	2	0	2	2	7			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:11351835G>A	ENST00000315872.6	-	18	2623	c.2175C>T	c.(2173-2175)atC>atT	p.I725I	ROCK2_ENST00000401753.1_Silent_p.I482I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	725	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TGGCTTCTTCGATGGACTCAT	0.388																																																	0													207	185	192					2																	11351835		1866	4104	5970	SO:0001819	synonymous_variant	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2175C>T	2.37:g.11351835G>A			Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.I725	ENST00000315872.6	37	c.2175	CCDS42654.1	2																																																																																			ROCK2	-	pirsf_Rho-assoc_coiled-coil_kin	ENSG00000134318		0.388	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	-	0	89	0	G			11351835	-1	tier1	-	no_errors	ENST00000315872	ensembl	human	known	74_37	silent	14.58	81	14	SNP	0.995	A	A	11351835	G	A	11351835	2	1	18	1	0	0	0	0	0	0	0	1	13563	1048	37	1		1	ROCK2	2	11351835	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		11351835	231847538	13	5079											
NT5C1B	93034	genome.wustl.edu	37	chr2	18765855	18765855	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaggcagcctcgtagtcGtcctcgtcctcccgctgctg	4	10	11	16	4	0	0	0	0	0	0	6	0	3	0	4	1	2	5	4	1	2	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:18765855G>A	ENST00000359846.2	-	5	905	c.828C>T	c.(826-828)gaC>gaT	p.D276D	NT5C1B-RDH14_ENST00000532967.1_Silent_p.D276D|NT5C1B_ENST00000600945.1_Silent_p.D276D|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank|NT5C1B_ENST00000304081.4_Silent_p.D216D	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	276					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CCTCGTAGTCGTCCTCGTCCT	0.682																																																	0													17	19	18					2																	18765855		2202	4300	6502	SO:0001819	synonymous_variant	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.828C>T	2.37:g.18765855G>A			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	NULL	p.T194M	ENST00000359846.2	37	c.581	CCDS33150.1	2																																																																																			NT5C1B	-	NULL	ENSG00000185013		0.682	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1		0	53	0	G			18765855	-1			no_errors	ENST00000406971	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.000	A	A	18765855	G	A	18765855	2	1	18	1	0	0	0	0	0	0	0	1	10725	1136	40	1		1	NT5C1B	2	18765855	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	7414020	18765855	224433518	14	5080											
XDH	7498	genome.wustl.edu	37	chr2	31605935	31605935	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccctctgaacacctctgTcttttgggcaggaagcttag	8	11	10	12	0	3	1	0	1	3	0	3	3	3	2	3	2	2	2	3	2	3	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:31605935T>G	ENST00000379416.3	-	11	1018	c.970A>C	c.(970-972)Aca>Cca	p.T324P	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	324	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	AACACCTCTGTCTTTTGGGCA	0.572																																					Colon(66;682 1445 30109 40147)												0													87	79	82					2																	31605935		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.970A>C	2.37:g.31605935T>G	ENSP00000368727:p.Thr324Pro		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.T324P	ENST00000379416.3	37	c.970	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.247391	0.95305	.	.	ENSG00000158125	ENST00000379416	T	0.23950	1.88	5.65	4.49	0.54785	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67960	-0.5535	10	0.87932	D	0	.	11.2954	0.49276	0.0:0.0722:0.0:0.9278	.	324	P47989	XDH_HUMAN	P	324	ENSP00000368727:T324P	ENSP00000368727:T324P	T	-	1	0	XDH	31459439	1.000000	0.71417	0.195000	0.23364	0.654000	0.38779	5.088000	0.64486	0.980000	0.38523	0.368000	0.22195	ACA	XDH	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.572	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	88	0	T	NM_000379		31605935	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	missense	8.97	71	7	SNP	0.992	G	G	31605935	T	G	31605935	3	3	18	1	0	0	0	0	1	0	0	0	17475	1667	58	4	3135	4	XDH	2	31605935	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	12840080	31605935	211593438	15	5081											
LYG2	254773	genome.wustl.edu	37	chr2	99858901	99858901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcattgtctatgtccgatgGggtggcaatcgcttcaattc	7	14	11	9	2	3	0	2	0	1	0	6	1	4	0	1	3	0	2	1	3	3	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:99858901G>T	ENST00000409238.1	-	5	585	c.565C>A	c.(565-567)Cca>Aca	p.P189T	LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000333017.2_Missense_Mutation_p.P189T			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	189					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.P189S(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATGTCCGATGGGGTGGCAATC	0.413																																																	1	Substitution - Missense(1)	prostate(1)											149	143	145					2																	99858901		2203	4300	6503	SO:0001583	missense	0			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.565C>A	2.37:g.99858901G>T	ENSP00000386939:p.Pro189Thr		Q496G2|Q53RW0	Missense_Mutation	SNP	pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.P189T	ENST00000409238.1	37	c.565	CCDS2042.1	2	.	.	.	.	.	.	.	.	.	.	G	3.574	-0.086921	0.07097	.	.	ENSG00000185674	ENST00000409238;ENST00000333017	.	.	.	5.22	4.34	0.51931	Lysozyme-like domain (1);	0.337581	0.25938	N	0.027326	T	0.44201	0.1282	L	0.51422	1.61	0.09310	N	1	P	0.45283	0.855	P	0.49012	0.598	T	0.28870	-1.0030	8	.	.	.	-9.3349	9.6242	0.39741	0.0938:0.0:0.9062:0.0	.	189	Q86SG7	LYG2_HUMAN	T	189	.	.	P	-	1	0	LYG2	99225333	0.175000	0.23083	0.007000	0.13788	0.024000	0.10985	2.240000	0.43088	1.442000	0.47568	0.563000	0.77884	CCA	LYG2	-	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	ENSG00000185674		0.413	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LYG2	HGNC	protein_coding	OTTHUMT00000330307.1		0	51	0	G	NM_175735		99858901	-1			no_errors	ENST00000333017	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.017	T	T	99858901	G	T	99858901	3	4	18	1	0	0	0	0	1	0	0	0	9141	1232	43	3	77	3	LYG2	2	99858901	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	68252966	99858901	143340472	16	5082											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125232348	125232348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaattccagtaccaggaaaAcctgggacctttttaaagaa	15	9	9	8	0	0	1	0	0	0	1	1	4	1	4	4	3	2	1	4	3	7	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:125232348A>T	ENST00000431078.1	+	7	1315	c.951A>T	c.(949-951)aaA>aaT	p.K317N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	317	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACCAGGAAAACCTGGGACCT	0.368																																																	0													40	37	38					2																	125232348		1799	4067	5866	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.951A>T	2.37:g.125232348A>T	ENSP00000399013:p.Lys317Asn		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.K317N	ENST00000431078.1	37	c.951	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925679	0.73213	.	.	ENSG00000155052	ENST00000431078	T	0.79554	-1.28	5.67	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.53938	D	0.000058	D	0.88440	0.6437	M	0.81112	2.525	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.87829	0.2643	10	0.51188	T	0.08	.	9.881	0.41233	0.8568:0.0:0.1432:0.0	.	317	Q8WYK1	CNTP5_HUMAN	N	317	ENSP00000399013:K317N	ENSP00000399013:K317N	K	+	3	2	CNTNAP5	124948818	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.761000	0.26489	1.074000	0.40909	0.482000	0.46254	AAA	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.368	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	47	0	A			125232348	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T	T	125232348	A	T	125232348	3	4	18	1	0	0	0	0	1	0	0	0	3657	40	2	5	977	5	CNTNAP5	2	125232348	Missense_Mutation	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	25373447	125232348	117967025	17	5083											
MBD5	55777	genome.wustl.edu	37	chr2	149243434	149243434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttctccaggggtaccAgaatctccaggcgttccaag	10	8	10	13	1	2	1	0	0	2	1	5	1	3	1	4	3	2	3	4	3	4	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:149243434A>G	ENST00000407073.1	+	11	3966	c.2969A>G	c.(2968-2970)cAg>cGg	p.Q990R	MBD5_ENST00000404807.1_Missense_Mutation_p.Q1223R	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	990					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGGGGTACCAGAATCTCCAG	0.463																																																	0													110	112	111					2																	149243434		2203	4300	6503	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2969A>G	2.37:g.149243434A>G	ENSP00000386049:p.Gln990Arg		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.Q990R	ENST00000407073.1	37	c.2969	CCDS33302.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.06|19.06	3.754256|3.754256	0.69648|0.69648	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.21734|.	1.99;1.99|.	5.47|5.47	2.91|2.91	0.33838|0.33838	.|.	0.105866|.	0.42548|.	D|.	0.000694|.	T|T	0.43166|0.43166	0.1235|0.1235	N|N	0.24115|0.24115	0.695|0.695	0.35762|0.35762	D|D	0.820221|0.820221	P;B|.	0.41910|.	0.764;0.118|.	B;B|.	0.36504|.	0.226;0.064|.	T|T	0.48547|0.48547	-0.9026|-0.9026	10|5	0.44086|.	T|.	0.13|.	-0.4726|-0.4726	11.9709|11.9709	0.53063|0.53063	0.7257:0.2743:0.0:0.0|0.7257:0.2743:0.0:0.0	.|.	1223;990|.	E9PHH0;Q9P267|.	.;MBD5_HUMAN|.	R|G	990;1223|963	ENSP00000386049:Q990R;ENSP00000384672:Q1223R|.	ENSP00000384672:Q1223R|.	Q|R	+|+	2|1	0|2	MBD5|MBD5	148959904|148959904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.823000|3.823000	0.55715|0.55715	0.888000|0.888000	0.36160|0.36160	0.482000|0.482000	0.46254|0.46254	CAG|AGA	MBD5	-	NULL	ENSG00000204406		0.463	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0	52	0	A			149243434	1	tier1	-	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	13.75	69	11	SNP	1.000	G	G	149243434	A	G	149243434	3	3	18	1	0	0	0	0	1	0	0	0	9385	188	7	4	2991	4	MBD5	2	149243434	Missense_Mutation	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	24011086	149243434	93955939	18	5084											
TTN	7273	genome.wustl.edu	37	chr2	179400859	179400859	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcctatattttaatccatCtgcaatgatttctttgcctt	10	19	3	9	0	2	1	0	1	2	0	4	1	4	1	3	0	2	1	3	0	5	7			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:179400859C>G	ENST00000591111.1	-	307	95916	c.95692G>C	c.(95692-95694)Gat>Cat	p.D31898H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30971H|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D24599H|TTN_ENST00000460472.2_Missense_Mutation_p.D24474H|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24666H|TTN_ENST00000589042.1_Missense_Mutation_p.D33539H|TTN-AS1_ENST00000415561.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31898	Ig-like 141.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAATCCATCTGCAATGATT	0.413																																																	0													130	116	120					2																	179400859		1878	4108	5986	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95692G>C	2.37:g.179400859C>G	ENSP00000465570:p.Asp31898His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D30971H	ENST00000591111.1	37	c.92911		2	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218032	0.58560	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.76	5.76	0.90799	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85852	0.5793	M	0.67517	2.055	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.967;0.967;0.967;0.982	D	0.86351	0.1711	9	0.87932	D	0	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	24474;24599;24666;31898	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30971;24474;24666;24599;24471	ENSP00000343764:D30971H;ENSP00000434586:D24474H;ENSP00000340554:D24666H;ENSP00000352154:D24599H	ENSP00000340554:D24666H	D	-	1	0	TTN	179109105	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.089000	0.71384	2.706000	0.92434	0.563000	0.77884	GAT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	68	0	C	NM_133378		179400859	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	G	G	179400859	C	G	179400859	3	3	18	1	0	0	0	0	1	0	0	0	16784	913	32	5	7388	5	TTN	2	179400859	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	30157425	179400859	63798514	19	5085											
ABCB6	10058	genome.wustl.edu	37	chr2	220083133	220083133	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccagccaggccggccAggggcagcgccgcctgaagt	6	2	16	17	4	0	1	0	1	0	0	0	1	0	1	7	5	2	1	7	5	1	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:220083133A>T	ENST00000265316.3	-	1	579	c.263T>A	c.(262-264)cTg>cAg	p.L88Q	ABCB6_ENST00000439002.2_Missense_Mutation_p.L88Q	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	88					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCCGGCCAGGGGCAGCGC	0.716																																																	0													10	16	14					2																	220083133		2161	4218	6379	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.263T>A	2.37:g.220083133A>T	ENSP00000265316:p.Leu88Gln		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L88Q	ENST00000265316.3	37	c.263	CCDS2436.1	2	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554996	0.45487	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.82984	-1.67;-1.67	5.05	3.89	0.44902	.	0.686407	0.13909	N	0.354351	D	0.83866	0.5347	L	0.32530	0.975	0.27938	N	0.937627	D;D	0.59357	0.985;0.983	P;P	0.59825	0.864;0.762	T	0.75712	-0.3222	10	0.66056	D	0.02	-0.78	10.8673	0.46862	0.9257:0.0:0.0743:0.0	.	88;88	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	Q	88	ENSP00000265316:L88Q;ENSP00000394333:L88Q	ENSP00000265316:L88Q	L	-	2	0	ABCB6	219791377	0.998000	0.40836	0.936000	0.37596	0.172000	0.22775	3.106000	0.50322	1.049000	0.40321	0.482000	0.46254	CTG	ABCB6	-	NULL	ENSG00000115657		0.716	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	-	0	62	0	A	NM_005689		220083133	-1	tier1	-	no_errors	ENST00000265316	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.219	T	T	220083133	A	T	220083133	3	4	18	1	0	0	0	0	1	0	0	0	45	188	7	5	2341	5	ABCB6	2	220083133	Missense_Mutation	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	40682274	220083133	23116240	20	5086											
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	11	0	16	14	6	0	0	0	0	0	0	0	6	0	3	4	4	4	1	4	4	2	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	78	0	G	NM_006037		240016733	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.191	T	T	240016733	G	T	240016733	3	4	18	1	0	0	0	0	1	0	0	0	7036	1049	37	2	1060	2	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	19933600	240016733	3182640	21	5087											
TRANK1	9881	genome.wustl.edu	37	chr3	36873577	36873577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagaacacatccccaagCtccttgtccttcttgctaaa	11	11	6	13	0	1	1	0	0	1	1	4	2	4	1	4	1	3	2	4	1	4	4	rs377104234		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr3:36873577C>G	ENST00000429976.2	-	21	7612	c.7365G>C	c.(7363-7365)gaG>gaC	p.E2455D	TRANK1_ENST00000428977.2_Missense_Mutation_p.E1905D|TRANK1_ENST00000301807.6_Missense_Mutation_p.E1905D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2455							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATCCCCAAGCTCCTTGTCCT	0.512																																																	0													101	103	102					3																	36873577		1963	4160	6123	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7365G>C	3.37:g.36873577C>G	ENSP00000416168:p.Glu2455Asp		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.E2455D	ENST00000429976.2	37	c.7365	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685434	0.29872	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.35048	1.33;1.79;1.33	5.16	2.33	0.28932	.	0.107097	0.40302	N	0.001134	T	0.23611	0.0571	L	0.32530	0.975	0.09310	N	0.999996	B	0.12630	0.006	B	0.09377	0.004	T	0.17776	-1.0358	10	0.56958	D	0.05	.	5.5078	0.16864	0.0:0.5883:0.147:0.2647	.	2455	O15050	TRNK1_HUMAN	D	1905;2455;1905	ENSP00000416826:E1905D;ENSP00000416168:E2455D;ENSP00000301807:E1905D	ENSP00000301807:E1905D	E	-	3	2	TRANK1	36848581	0.389000	0.25205	0.018000	0.16275	0.562000	0.35680	0.791000	0.26915	0.261000	0.21753	-0.305000	0.09177	GAG	TRANK1	-	NULL	ENSG00000168016		0.512	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	79	0	C	NM_014831		36873577	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	11.11	64	8	SNP	0.176	G	G	36873577	C	G	36873577	3	3	18	1	0	0	0	0	1	0	0	0	16502	796	28	5	1424	5	TRANK1	3	36873577	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09		36873577	161148853	22	5088											
OR5H15	403274	genome.wustl.edu	37	chr3	97888227	97888227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcacagtcttagaaaaGaaatctgataagggtgtaag	15	11	9	6	0	4	3	1	1	3	2	4	3	4	3	0	1	0	1	0	1	6	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr3:97888227G>T	ENST00000356526.2	+	1	684	c.684G>T	c.(682-684)aaG>aaT	p.K228N		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCTTAGAAAAGAAATCTGATA	0.378																																																	0													71	76	74					3																	97888227		2203	4300	6503	SO:0001583	missense	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.684G>T	3.37:g.97888227G>T	ENSP00000373195:p.Lys228Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K228N	ENST00000356526.2	37	c.684	CCDS33799.1	3	.	.	.	.	.	.	.	.	.	.	-	2.722	-0.266383	0.05754	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00115	8.71	2.48	-4.88	0.03113	GPCR, rhodopsin-like superfamily (1);	0.732533	0.12129	N	0.496963	T	0.00073	0.0002	L	0.31420	0.93	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.39502	-0.9611	10	0.87932	D	0	.	1.3604	0.02190	0.4521:0.148:0.2501:0.1498	.	228	A6NDH6	O5H15_HUMAN	N	228	ENSP00000373195:K228N	ENSP00000373195:K228N	K	+	3	2	OR5H15	99370917	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.241000	0.02911	-0.961000	0.03609	-2.968000	0.00081	AAG	OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000233412		0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	-	0	88	0	G			97888227	1	tier1	-	no_errors	ENST00000356526	ensembl	human	known	74_37	missense	5.22	109	6	SNP	0.000	T	T	97888227	G	T	97888227	3	4	18	1	0	0	0	0	1	0	0	0	11200	933	33	3	686	3	OR5H15	3	97888227	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	61014650	97888227	100134203	23	5089											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	64	0	G			178936091	1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	37.08	56	33	SNP	1.000	A	A	178936091	G	A	178936091	3	1	18	1	0	0	0	0	1	0	0	0	11952	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	81047864	178936091	19086339	24	5090											
LRIT3	345193	genome.wustl.edu	37	chr4	110789009	110789009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaaatcatgtctgctctgGgcagtaatgttctactgcgg	9	12	10	10	1	4	0	1	0	3	0	4	0	4	0	1	2	3	4	1	2	4	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr4:110789009G>T	ENST00000594814.1	+	3	802	c.802G>T	c.(802-804)Ggc>Tgc	p.G268C	LRIT3_ENST00000409621.2_Missense_Mutation_p.G85C|LRIT3_ENST00000327908.3_Missense_Mutation_p.G85C|LRIT3_ENST00000379920.3_Missense_Mutation_p.G223C	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	268	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GTCTGCTCTGGGCAGTAATGT	0.493																																																	0													116	106	109					4																	110789009		2203	4300	6503	SO:0001583	missense	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.802G>T	4.37:g.110789009G>T	ENSP00000469759:p.Gly268Cys		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G268C	ENST00000594814.1	37	c.802	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903105	0.92035	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	D;D;D	0.81499	-1.5;-1.5;-1.5	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96522	0.9386	10	0.87932	D	0	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	223;85	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	C	85;223;85	ENSP00000328222:G85C;ENSP00000369252:G223C;ENSP00000386734:G85C	ENSP00000328222:G85C	G	+	1	0	LRIT3	111008458	1.000000	0.71417	0.977000	0.42913	0.953000	0.61014	9.476000	0.97823	2.789000	0.95967	0.655000	0.94253	GGC	LRIT3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000183423		0.493	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2		0	56	0	G	NM_198506		110789009	1			no_errors	ENST00000594814	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	110789009	G	T	110789009	3	4	18	1	0	0	0	0	1	0	0	0	8984	1232	43	3	673	3	LRIT3	4	110789009	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		110789009	80365267	25	5091											
PRSS12	8492	genome.wustl.edu	37	chr4	119252994	119252994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcacactgctgcctccaGcaaggcgaatgatggggaac	11	6	12	12	1	0	1	0	1	0	0	1	3	1	2	2	3	5	3	2	3	3	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr4:119252994G>T	ENST00000296498.3	-	4	1130	c.848C>A	c.(847-849)gCt>gAt	p.A283D		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	283	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GCTGCCTCCAGCAAGGCGAAT	0.473																																																	0													78	71	73					4																	119252994		2203	4300	6503	SO:0001583	missense	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.848C>A	4.37:g.119252994G>T	ENSP00000296498:p.Ala283Asp		Q9UP16	Missense_Mutation	SNP	pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A	p.A283D	ENST00000296498.3	37	c.848	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649359	0.47362	.	.	ENSG00000164099	ENST00000296498	T	0.29917	1.55	6.04	-7.84	0.01196	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.949521	0.08766	N	0.896946	T	0.38639	0.1048	M	0.75615	2.305	0.09310	N	1	B	0.29590	0.25	B	0.42462	0.388	T	0.58014	-0.7711	10	0.66056	D	0.02	.	11.2858	0.49220	0.6134:0.0:0.3034:0.0832	.	283	P56730	NETR_HUMAN	D	283	ENSP00000296498:A283D	ENSP00000296498:A283D	A	-	2	0	PRSS12	119472442	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.436000	0.21526	-1.490000	0.01842	-1.300000	0.01332	GCT	PRSS12	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	ENSG00000164099		0.473	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	-	0	32	0	G			119252994	-1	tier1	-	no_errors	ENST00000296498	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	T	T	119252994	G	T	119252994	3	4	18	1	0	0	0	0	1	0	0	0	12657	971	34	3	1819	3	PRSS12	4	119252994	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	8463985	119252994	71901282	26	5092											
FAT4	79633	genome.wustl.edu	37	chr4	126371928	126371928	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacaggagtcataaccactCaaggcttcttggattttgaa	13	11	8	9	0	3	1	2	1	1	0	3	3	3	3	1	3	1	1	1	3	3	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr4:126371928C>T	ENST00000394329.3	+	9	9770	c.9757C>T	c.(9757-9759)Caa>Taa	p.Q3253*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q1551*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3253	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q3253E(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATAACCACTCAAGGCTTCTT	0.438																																																	2	Substitution - Missense(2)	endometrium(2)											61	60	60					4																	126371928		2203	4300	6503	SO:0001587	stop_gained	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.9757C>T	4.37:g.126371928C>T	ENSP00000377862:p.Gln3253*		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q3253*	ENST00000394329.3	37	c.9757	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	51	18.161898	0.99900	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.63	5.63	0.86233	.	0.000000	0.33670	U	0.004675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	.	.	.	X	3253;1551	.	ENSP00000335169:Q1551X	Q	+	1	0	FAT4	126591378	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.662000	0.83803	2.652000	0.90054	0.655000	0.94253	CAA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	40	0	C	NM_024582		126371928	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	nonsense	13.04	40	6	SNP	1.000	T	T	126371928	C	T	126371928	4	4	18	1	0	0	0	0	0	1	0	0	5714	827	29	3	9791	3	FAT4	4	126371928	Nonsense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	7118934	126371928	64782348	27	5093											
TRIM61	391712	genome.wustl.edu	37	chr4	165891024	165891024	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatcatgtagatccttcCaggacataatgatgcaggag	14	10	9	8	0	1	2	1	1	0	1	3	4	3	4	2	2	2	2	2	2	4	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr4:165891024C>T	ENST00000329314.5	-	3	743	c.131G>A	c.(130-132)tGg>tAg	p.W44*		NM_001012414.2	NP_001012414.1	Q5EBN2	TRI61_HUMAN	tripartite motif containing 61	44						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_hematologic(180;0.221)	Prostate(90;0.109)		GBM - Glioblastoma multiforme(119;0.155)		TAGATCCTTCCAGGACATAAT	0.473																																																	0													55	45	49					4																	165891024		2201	4298	6499	SO:0001587	stop_gained	0				CCDS34093.1	4q32.3	2013-01-09	2011-01-25			ENSG00000183439		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24339	protein-coding gene	gene with protein product			"ring finger protein 35", "tripartite motif-containing 61"	RNF35			Standard	NM_001012414		Approved		uc003iqw.3	Q5EBN2		ENST00000329314.5:c.131G>A	4.37:g.165891024C>T	ENSP00000332288:p.Trp44*			Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.W44*	ENST00000329314.5	37	c.131	CCDS34093.1	4	.	.	.	.	.	.	.	.	.	.	C	41	8.769899	0.98948	.	.	ENSG00000183439	ENST00000329314	.	.	.	3.22	2.36	0.29203	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1714	0.31258	0.0:0.8722:0.0:0.1278	.	.	.	.	X	44	.	ENSP00000332288:W44X	W	-	2	0	TRIM61	166110474	0.998000	0.40836	0.013000	0.15412	0.467000	0.32768	2.184000	0.42575	0.698000	0.31739	0.580000	0.79431	TGG	TRIM61	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000183439		0.473	TRIM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM61	HGNC	protein_coding	OTTHUMT00000364331.1	-	0	148	0	C	XM_373038		165891024	-1	tier1	-	no_errors	ENST00000329314	ensembl	human	known	74_37	nonsense	6.22	181	12	SNP	0.997	T	T	165891024	C	T	165891024	4	4	18	1	0	0	0	0	0	1	0	0	16584	595	21	3	506	3	TRIM61	4	165891024	Nonsense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	39519096	165891024	25263252	28	5094											
IL7R	3575	genome.wustl.edu	37	chr5	35873661	35873661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtatgagattaaagttcGatccatccctgatcactatt	13	14	6	8	1	1	2	1	2	0	1	4	4	3	2	2	0	0	2	2	0	5	5	rs193922644|rs193922643		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr5:35873661G>T	ENST00000303115.3	+	5	746	c.617G>T	c.(616-618)cGa>cTa	p.R206L	IL7R_ENST00000506850.1_Missense_Mutation_p.R206L|IL7R_ENST00000343305.4_Missense_Mutation_p.R206L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	206	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATTAAAGTTCGATCCATCCCT	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													86	82	83					5																	35873661		2203	4300	6503	SO:0001583	missense	0			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.617G>T	5.37:g.35873661G>T	ENSP00000306157:p.Arg206Leu		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.R206L	ENST00000303115.3	37	c.617	CCDS3911.1	5	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365471	0.82463	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000505093	D;T;T;T	0.97480	-4.4;-0.65;-0.65;-1.33	5.97	5.97	0.96955	Short hematopoietin receptor, family 1, conserved site (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.98074	0.9365	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98539	1.0631	10	0.87932	D	0	-2.0552	15.9215	0.79580	0.0:0.0:1.0:0.0	.	206;206	D6RGV2;P16871	.;IL7RA_HUMAN	L	206;206;206;9	ENSP00000306157:R206L;ENSP00000345819:R206L;ENSP00000421207:R206L;ENSP00000426069:R9L	ENSP00000306157:R206L	R	+	2	0	IL7R	35909418	0.995000	0.38212	1.000000	0.80357	0.758000	0.43043	5.259000	0.65485	2.820000	0.97059	0.655000	0.94253	CGA	IL7R	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	ENSG00000168685		0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2		0	21	0	G			35873661	1			no_errors	ENST00000303115	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.998	T	T	35873661	G	T	35873661	3	4	18	1	0	0	0	0	1	0	0	0	7732	1058	37	2	635	2	IL7R	5	35873661	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		35873661	145041599	29	5095											
ANKRD43	134548	genome.wustl.edu	37	chr5	132149509	132149509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagttcgtcaacaacgtgGcggtggtgaaggagctcgac	10	7	15	9	4	1	1	1	1	0	0	3	3	1	2	0	4	4	3	0	4	3	1	rs369609147		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr5:132149509G>A	ENST00000378693.2	+	1	477	c.196G>A	c.(196-198)Gcg>Acg	p.A66T		NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	66																	CAACAACGTGGCGGTGGTGAA	0.726																																																	0								G	THR/ALA	0,3076		0,0,1538	19	29	26		196	4.5	1	5		26	2,6264		0,2,3131	no	missense	ANKRD43	NM_175873.4	58	0,2,4669	AA,AG,GG		0.0319,0.0,0.0214	possibly-damaging	66/550	132149509	2,9340	1538	3133	4671	SO:0001583	missense	0			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.196G>A	5.37:g.132149509G>A	ENSP00000367965:p.Ala66Thr		Q8NAE7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A66T	ENST00000378693.2	37	c.196	CCDS43361.1	5	.	.	.	.	.	.	.	.	.	.	g	25.6	4.656449	0.88154	0.0	3.19E-4	ENSG00000198944	ENST00000378693	T	0.39787	1.06	4.53	4.53	0.55603	.	0.169921	0.35677	U	0.003052	T	0.63663	0.2530	M	0.70275	2.135	0.44789	D	0.997798	D	0.89917	1.0	D	0.77004	0.989	T	0.68812	-0.5310	10	0.72032	D	0.01	.	15.8636	0.79043	0.0:0.0:1.0:0.0	.	66	Q2M3V2	ANR43_HUMAN	T	66	ENSP00000367965:A66T	ENSP00000367965:A66T	A	+	1	0	ANKRD43	132177408	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	5.199000	0.65152	2.069000	0.61940	0.290000	0.19541	GCG	SOWAHA	-	NULL	ENSG00000198944		0.726	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHA	HGNC	protein_coding	OTTHUMT00000133062.1	-	0	8	0	G	NM_175873		132149509	1	tier1	-	no_errors	ENST00000378693	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	A	A	132149509	G	A	132149509	3	1	18	1	0	0	0	0	1	0	0	0	671	1203	42	3	198	3	ANKRD43	5	132149509	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	96275848	132149509	48765751	30	5096											
ZNF300	91975	genome.wustl.edu	37	chr5	150275679	150275679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggtttttccccagtatgTattctctgatgtataatgag	9	17	9	6	0	1	2	0	2	1	0	3	2	2	2	2	1	0	4	2	1	5	8			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr5:150275679T>C	ENST00000274599.5	-	6	1542	c.1122A>G	c.(1120-1122)atA>atG	p.I374M	ZNF300_ENST00000418587.2_Missense_Mutation_p.I338M|ZNF300_ENST00000446148.2_Missense_Mutation_p.I390M|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.I374M	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGTATGTATTCTCTGAT	0.443																																																	0													57	57	57					5																	150275679		2203	4298	6501	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1122A>G	5.37:g.150275679T>C	ENSP00000274599:p.Ile374Met		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I390M	ENST00000274599.5	37	c.1170	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	T	15.14	2.744551	0.49151	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	3.87	-2.24	0.06909	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	L	0.45470	1.425	0.22996	N	0.998459	D	0.61697	0.99	P	0.62491	0.903	T	0.16188	-1.0411	9	0.59425	D	0.04	.	1.0662	0.01611	0.415:0.1417:0.0996:0.3436	.	374	Q96RE9	ZN300_HUMAN	M	390;374;338;374	ENSP00000397178:I390M;ENSP00000274599:I374M;ENSP00000392593:I338M;ENSP00000377773:I374M	ENSP00000274599:I374M	I	-	3	3	ZNF300	150255872	0.040000	0.19996	0.988000	0.46212	0.998000	0.95712	-0.282000	0.08445	-0.485000	0.06754	0.482000	0.46254	ATA	ZNF300	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000145908		0.443	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		-	0	76	0	T	NM_052860		150275679	-1	tier1	-	no_errors	ENST00000446148	ensembl	human	known	74_37	missense	7.78	83	7	SNP	0.989	C	C	150275679	T	C	150275679	3	2	18	1	0	0	0	0	1	0	0	0	17879	1628	57	4	696	4	ZNF300	5	150275679	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	18126170	150275679	30639581	31	5097											
DOK3	79930	genome.wustl.edu	37	chr5	176930258	176930258	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaccaaggctgtcctGaacacggctgtgtcccccag	10	6	11	14	1	0	1	0	1	0	0	2	2	2	2	4	3	2	2	4	3	3	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr5:176930258G>T	ENST00000357198.4	-	0	1729				DOK3_ENST00000312943.6_Missense_Mutation_p.Q261K|DOK3_ENST00000377112.4_Missense_Mutation_p.Q159K|RP11-1334A24.6_ENST00000506025.1_RNA	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3						Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			aggctgtcctgaacacggctg	0.567																																																	0													76	75	75					5																	176930258		692	1591	2283	SO:0001628	intergenic_variant	0			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850		5.37:g.176930258G>T			E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.Q261K	ENST00000357198.4	37	c.781	CCDS4426.1	5	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193754	0.22037	.	.	ENSG00000146094	ENST00000312943;ENST00000377112	T;T	0.49720	0.82;0.77	2.1	0.253	0.15551	.	.	.	.	.	T	0.17916	0.0430	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.27625	0.115;0.072;0.183	B;B;B	0.19666	0.012;0.011;0.026	T	0.24835	-1.0149	9	0.02654	T	1	.	4.1571	0.10266	0.3767:0.0:0.6232:0.0	.	159;261;147	E9PAT0;Q7L591-3;Q7L591-2	.;.;.	K	261;159	ENSP00000325174:Q261K;ENSP00000366316:Q159K	ENSP00000325174:Q261K	Q	-	1	0	DOK3	176862864	0.002000	0.14202	0.001000	0.08648	0.067000	0.16453	-0.147000	0.10234	0.040000	0.15660	0.313000	0.20887	CAG	DOK3	-	pfscan_Insln_rcpt_S1	ENSG00000146094		0.567	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	HGNC	protein_coding	OTTHUMT00000253420.4	-	0	35	0	G	NM_024872		176930258	-1	tier1	-	no_errors	ENST00000312943	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.001	T	T	176930258	G	T	176930258	1	4	18	0	1	0	0	0	0	0	0	0	4712	1299	45	3		3	DOK3	5	176930258	IGR	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	26654579	176930258	3985002	32	5098											
TNXB	7148	genome.wustl.edu	37	chr6	32017091	32017091	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacgcgctgcccctcgTggaggccgtacagatgcatc	6	6	13	16	4	0	1	0	0	0	1	2	2	0	2	4	3	3	3	4	3	1	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr6:32017091T>C	ENST00000375244.3	-	28	9914	c.9713A>G	c.(9712-9714)cAc>cGc	p.H3238R	TNXB_ENST00000375247.2_Missense_Mutation_p.H3236R			P22105	TENX_HUMAN	tenascin XB	3283	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCCCCTCGTGGAGGCCGTA	0.687																																																	0													39	41	40					6																	32017091		1265	2544	3809	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9713A>G	6.37:g.32017091T>C	ENSP00000364393:p.His3238Arg		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.H3236R	ENST00000375244.3	37	c.9707		6	.	.	.	.	.	.	.	.	.	.	T	0.460	-0.889746	0.02511	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56103	0.48;0.48	4.28	3.01	0.34805	.	0.264855	0.26792	N	0.022468	T	0.13713	0.0332	L	0.27944	0.81	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.07868	-1.0750	10	0.21014	T	0.42	.	3.1004	0.06324	0.2107:0.114:0.0:0.6753	.	3236	P22105-3	.	R	3238;3236	ENSP00000364393:H3238R;ENSP00000364396:H3236R	ENSP00000364393:H3238R	H	-	2	0	TNXB	32125069	0.000000	0.05858	0.009000	0.14445	0.017000	0.09413	-0.418000	0.07080	1.572000	0.49736	0.260000	0.18958	CAC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.687	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	60	0	T	NM_019105		32017091	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	14.13	79	13	SNP	0.002	C	C	32017091	T	C	32017091	3	2	18	1	0	0	0	0	1	0	0	0	16393	1696	59	4	5074	4	TNXB	6	32017091	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09		32017091	139097976	33	5099											
KIFC1	3833	genome.wustl.edu	37	chr6	33374195	33374195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggggagcgggaacgccttCgggaaacacaggccattaac	11	4	14	12	4	0	0	0	0	0	0	1	3	0	3	3	5	4	0	3	5	3	2	rs112635529		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr6:33374195C>T	ENST00000428849.2	+	8	2209	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	587	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GGAACGCCTTCGGGAAACACA	0.652																																																	0													41	48	45					6																	33374195		2203	4300	6503	SO:0001583	missense	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1759C>T	6.37:g.33374195C>T	ENSP00000393963:p.Arg587Trp		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R587W	ENST00000428849.2	37	c.1759	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	c	24.1	4.494156	0.85069	.	.	ENSG00000237649	ENST00000428849	T	0.76186	-1.0	5.22	4.28	0.50868	Kinesin, motor domain (4);	0.060433	0.64402	D	0.000005	T	0.81351	0.4804	M	0.78285	2.405	0.47476	D	0.999434	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.82762	-0.0297	10	0.87932	D	0	-22.1125	10.3201	0.43760	0.2856:0.7144:0.0:0.0	.	579;587	B4E063;Q9BW19	.;KIFC1_HUMAN	W	587	ENSP00000393963:R587W	ENSP00000393963:R587W	R	+	1	2	KIFC1	33482173	0.984000	0.35163	0.998000	0.56505	0.977000	0.68977	2.238000	0.43070	2.710000	0.92621	0.558000	0.71614	CGG	KIFC1	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000237649		0.652	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	-	0	54	0	C	NM_002263		33374195	1	tier1	rs112635529	no_errors	ENST00000428849	ensembl	human	known	74_37	missense	19.18	58	14	SNP	0.999	T	T	33374195	C	T	33374195	3	4	18	1	0	0	0	0	1	0	0	0	8339	875	31	1	1789	1	KIFC1	6	33374195	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	1357104	33374195	137740872	34	5100											
FBXO9	26268	genome.wustl.edu	37	chr6	52957602	52957602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatggtttctatagagcctgGcaccaagtggaatattacag	12	11	11	7	0	1	1	0	0	1	1	1	3	1	2	2	3	2	2	2	3	6	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr6:52957602G>T	ENST00000244426.6	+	8	1045	c.873G>T	c.(871-873)tgG>tgT	p.W291C	RN7SL244P_ENST00000493405.2_RNA|FBXO9_ENST00000323557.7_Missense_Mutation_p.W281C|FBXO9_ENST00000370939.3_Missense_Mutation_p.W247C	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	291					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					ATAGAGCCTGGCACCAAGTGG	0.353																																																	0													60	57	58					6																	52957602		1843	4096	5939	SO:0001583	missense	0			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.873G>T	6.37:g.52957602G>T	ENSP00000244426:p.Trp291Cys		A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.W291C	ENST00000244426.6	37	c.873	CCDS55023.1	6	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359482	0.61403	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.78246	-1.15;-1.15;-1.16	5.53	4.66	0.58398	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.78966	0.4367	L	0.55103	1.725	0.80722	D	1	P;P;D	0.71674	0.865;0.673;0.998	B;B;P	0.61328	0.442;0.248;0.887	T	0.80661	-0.1283	10	0.49607	T	0.09	-22.9532	14.6531	0.68811	0.0702:0.0:0.9298:0.0	.	281;398;291	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	C	247;281;291	ENSP00000359977:W247C;ENSP00000326968:W281C;ENSP00000244426:W291C	ENSP00000244426:W291C	W	+	3	0	FBXO9	53065561	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.420000	0.97426	1.477000	0.48234	-0.251000	0.11542	TGG	FBXO9	-	superfamily_F-box_dom	ENSG00000112146		0.353	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	HGNC	protein_coding	OTTHUMT00000040950.3	-	0	58	0	G			52957602	1	tier1	-	no_errors	ENST00000244426	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	52957602	G	T	52957602	3	4	18	1	0	0	0	0	1	0	0	0	5784	1212	42	3	910	3	FBXO9	6	52957602	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	19583407	52957602	118157465	35	5101											
RPF2	84154	genome.wustl.edu	37	chr6	111336995	111336995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtatcaaatatccgcctgGctggattagagtatgttctg	10	13	10	8	1	2	1	1	0	1	1	3	2	3	2	2	2	0	4	2	2	5	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr6:111336995G>T	ENST00000441448.2	+	8	624	c.532G>T	c.(532-534)Gct>Tct	p.A178S		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	178	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TATCCGCCTGGCTGGATTAGA	0.338																																																	0													91	93	93					6																	111336995		2203	4300	6503	SO:0001583	missense	0			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"ribosomal processing factor 2 homolog (S. cerevisiae)"		"brix domain containing 1"	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.532G>T	6.37:g.111336995G>T	ENSP00000402338:p.Ala178Ser		Q5VXN1|Q8N4A1	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.A178S	ENST00000441448.2	37	c.532	CCDS5088.1	6	.	.	.	.	.	.	.	.	.	.	g	12.95	2.090804	0.36855	.	.	ENSG00000197498	ENST00000441448;ENST00000368864;ENST00000425871	T;T;T	0.21191	2.02;2.02;2.02	5.71	5.71	0.89125	Brix domain (3);	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	M	0.70842	2.15	0.80722	D	1	P;P	0.40681	0.727;0.727	B;B	0.41691	0.314;0.364	T	0.01604	-1.1314	10	0.33141	T	0.24	-15.4875	19.8493	0.96733	0.0:0.0:1.0:0.0	.	178;178	A8K800;Q9H7B2	.;RPF2_HUMAN	S	178;139;145	ENSP00000402338:A178S;ENSP00000357857:A139S;ENSP00000414026:A145S	ENSP00000357857:A139S	A	+	1	0	RPF2	111443688	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.348000	0.97062	2.701000	0.92244	0.563000	0.77884	GCT	RPF2	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	ENSG00000197498		0.338	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPF2	HGNC	protein_coding	OTTHUMT00000041813.2		0	39	0	G	NM_032194		111336995	1			no_errors	ENST00000441448	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	111336995	G	T	111336995	3	4	18	1	0	0	0	0	1	0	0	0	13592	1203	42	3	562	3	RPF2	6	111336995	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	58379393	111336995	59778072	36	5102											
LAMA4	3910	genome.wustl.edu	37	chr6	112508790	112508790	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcagtcaggtcccagacGcacttatcacagcctggagg	10	7	11	13	1	3	1	3	0	0	1	4	2	4	2	2	3	1	2	2	3	1	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr6:112508790G>T	ENST00000230538.7	-	8	1225	c.828C>A	c.(826-828)tgC>tgA	p.C276*	LAMA4_ENST00000389463.4_Nonsense_Mutation_p.C269*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.C269*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.C269*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	276	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTCCCAGACGCACTTATCAC	0.517																																																	0													59	50	53					6																	112508790		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"Laminins"	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.828C>A	6.37:g.112508790G>T	ENSP00000230538:p.Cys276*		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.C276*	ENST00000230538.7	37	c.828	CCDS43491.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	40|40|40	8.006980|8.006980|8.006980	0.98607|0.98607|0.98607	.|.|.	.|.|.	ENSG00000112769|ENSG00000112769|ENSG00000112769	ENST00000368640|ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588|ENST00000521732	.|.|.	.|.|.	.|.|.	5.9|5.9|5.9	1.07|1.07|1.07	0.20283|0.20283|0.20283	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|T	0.44664|.|0.44664	0.1304|.|0.1304	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.39440|.|0.39440	-0.9614|.|-0.9614	4|.|4	.|0.02654|.	.|T|.	.|1|.	.|.|.	9.8495|9.8495|9.8495	0.41048|0.41048|0.41048	0.4623:0.0:0.5377:0.0|0.4623:0.0:0.5377:0.0|0.4623:0.0:0.5377:0.0	.|.|.	.|.|.	.|.|.	.|.|.	E|X|S	80|276;269;269;269;276;276;269|89	.|.|.	.|ENSP00000230538:C276X|.	A|C|R	-|-|-	2|3|1	0|2|0	LAMA4|LAMA4|LAMA4	112615483|112615483|112615483	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.824000|0.824000|0.824000	0.46624|0.46624|0.46624	0.323000|0.323000|0.323000	0.19593|0.19593|0.19593	0.408000|0.408000|0.408000	0.25621|0.25621|0.25621	-0.119000|-0.119000|-0.119000	0.15052|0.15052|0.15052	GCG|TGC|CGT	LAMA4	-	NULL	ENSG00000112769		0.517	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	-	0	53	0	G	NM_001105206		112508790	-1	tier1	-	no_errors	ENST00000230538	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.999	T	T	112508790	G	T	112508790	4	4	18	1	0	0	0	0	0	1	0	0	8636	1079	38	2	4771	2	LAMA4	6	112508790	Nonsense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	1171795	112508790	58606277	37	5103											
TSPYL4	23270	genome.wustl.edu	37	chr6	116574350	116574350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcatgtacctcagcatGtcttcatcttggccactgat	8	15	7	11	0	5	2	3	2	2	0	5	2	5	2	2	1	2	2	2	1	1	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr6:116574350G>A	ENST00000420283.1	-	1	911	c.822C>T	c.(820-822)gaC>gaT	p.D274D	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	274					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		ACCTCAGCATGTCTTCATCTT	0.483																																																	0													58	58	58					6																	116574350		1981	4192	6173	SO:0001819	synonymous_variant	0				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.822C>T	6.37:g.116574350G>A			B4DYQ2|O94828|Q96GW8	Silent	SNP	pfam_NAP_family	p.D274	ENST00000420283.1	37	c.822	CCDS5106.1	6																																																																																			TSPYL4	-	pfam_NAP_family	ENSG00000187189		0.483	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	-	0	67	0	G			116574350	-1	tier1	-	no_errors	ENST00000420283	ensembl	human	known	74_37	silent	8.11	68	6	SNP	0.621	A	A	116574350	G	A	116574350	2	1	18	1	0	0	0	0	0	0	0	1	16709	1368	48	3		3	TSPYL4	6	116574350	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	4065560	116574350	54540717	38	5104											
PTPRK	5796	genome.wustl.edu	37	chr6	128294905	128294905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaccttttggatccaGgcacttctcgatgagaagcc	11	10	10	10	1	1	3	0	2	1	2	3	6	2	4	3	2	1	1	3	2	2	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr6:128294905G>T	ENST00000368215.3	-	28	4033	c.4034C>A	c.(4033-4035)cCt>cAt	p.P1345H	PTPRK_ENST00000368226.4_Missense_Mutation_p.P1346H|PTPRK_ENST00000368227.3_Missense_Mutation_p.P1363H|PTPRK_ENST00000368213.5_Missense_Mutation_p.P1352H|PTPRK_ENST00000368207.3_Missense_Mutation_p.P1378H|PTPRK_ENST00000368210.3_Missense_Mutation_p.P1364H|PTPRK_ENST00000532331.1_Missense_Mutation_p.P1368H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1345	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TTTGGATCCAGGCACTTCTCG	0.478																																																	0													126	115	119					6																	128294905		2203	4300	6503	SO:0001583	missense	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.4034C>A	6.37:g.128294905G>T	ENSP00000357198:p.Pro1345His		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.P1363H	ENST00000368215.3	37	c.4088		6	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008267	0.93346	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.82	5.82	0.92795	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.72622	0.3483	H	0.99261	4.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.84547	0.0642	10	0.87932	D	0	.	20.0789	0.97764	0.0:0.0:1.0:0.0	.	1368;1352;1345;1346	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	H	1346;1363;1368;1352;1364;1345;1378	ENSP00000357209:P1346H;ENSP00000357210:P1363H;ENSP00000432973:P1368H;ENSP00000357196:P1352H;ENSP00000357193:P1364H;ENSP00000357198:P1345H;ENSP00000357190:P1378H	ENSP00000357190:P1378H	P	-	2	0	PTPRK	128336598	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.810000	0.99221	2.750000	0.94351	0.655000	0.94253	CCT	PTPRK	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000152894		0.478	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1		0	43	0	G			128294905	-1			no_errors	ENST00000368227	ensembl	human	known	74_37	missense	5.08	54	3	SNP	1.000	T	T	128294905	G	T	128294905	3	4	18	1	0	0	0	0	1	0	0	0	12850	1000	35	3	297	3	PTPRK	6	128294905	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	11720555	128294905	42820162	39	5105											
NEUROD6	63974	genome.wustl.edu	37	chr7	31378309	31378309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcagcctccccaccctGacccatcaggaaactcctgg	8	7	9	17	0	1	1	1	1	0	0	3	2	3	2	6	2	3	1	6	2	1	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr7:31378309G>T	ENST00000297142.3	-	2	896	c.574C>A	c.(574-576)Cag>Aag	p.Q192K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	192					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TCCCCACCCTGACCCATCAGG	0.567																																																	0													111	84	93					7																	31378309		2203	4300	6503	SO:0001583	missense	0			AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"Basic helix-loop-helix proteins"	13804	protein-coding gene	gene with protein product		611513	"neurogenic differentiation 6"			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.574C>A	7.37:g.31378309G>T	ENSP00000297142:p.Gln192Lys		Q548T9|Q9H3H6	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.Q192K	ENST00000297142.3	37	c.574	CCDS5434.1	7	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099618	0.56183	.	.	ENSG00000164600	ENST00000297142	T	0.65364	-0.15	5.02	5.02	0.67125	Neurogenic differentiation factor, domain of unknown function (1);	0.053511	0.85682	D	0.000000	T	0.56804	0.2010	L	0.37630	1.12	0.58432	D	0.999999	B	0.34372	0.451	B	0.38156	0.266	T	0.52609	-0.8553	10	0.21540	T	0.41	-17.5021	18.7079	0.91645	0.0:0.0:1.0:0.0	.	192	Q96NK8	NDF6_HUMAN	K	192	ENSP00000297142:Q192K	ENSP00000297142:Q192K	Q	-	1	0	NEUROD6	31344834	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.769000	0.85360	2.481000	0.83766	0.650000	0.86243	CAG	NEUROD6	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000164600		0.567	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD6	HGNC	protein_coding	OTTHUMT00000215050.1	-	0	28	0	G	NM_022728		31378309	-1	tier1	-	no_errors	ENST00000297142	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	T	T	31378309	G	T	31378309	3	4	18	1	0	0	0	0	1	0	0	0	10390	1299	45	3	443	3	NEUROD6	7	31378309	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		31378309	127760354	40	5106											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86567530	86567530	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactcactggatccttccTctgcaacataaaaaaagcgt	14	10	5	12	1	2	0	1	0	1	0	4	1	4	1	2	1	4	1	2	1	6	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr7:86567530T>C	ENST00000450689.2	-	8	1186	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	KIAA1324L_ENST00000297222.6_Splice_Site_p.E94G|KIAA1324L_ENST00000444627.1_Splice_Site_p.E334G|KIAA1324L_ENST00000416314.1_Splice_Site_p.E167G	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	334						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGATCCTTCCTCTGCAACATA	0.393																																																	0													106	95	99					7																	86567530		2168	4231	6399	SO:0001630	splice_region_variant	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1001-1A>G	7.37:g.86567530T>C			A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.E334G	ENST00000450689.2	37	c.1001	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	T	12.96	2.093898	0.36952	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.62232	0.04;0.83;0.04;1.59	5.49	5.49	0.81192	Growth factor, receptor (1);	0.244526	0.42548	D	0.000688	T	0.46112	0.1376	N	0.16790	0.44	0.80722	D	1	B;B;B	0.12013	0.005;0.0;0.0	B;B;B	0.12156	0.007;0.0;0.0	T	0.36648	-0.9739	10	0.21014	T	0.42	.	14.7544	0.69552	0.0:0.0:0.0:1.0	.	334;94;167	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	G	334;94;334;167	ENSP00000413445:E334G;ENSP00000297222:E94G;ENSP00000397377:E334G;ENSP00000402390:E167G	ENSP00000297222:E94G	E	-	2	0	KIAA1324L	86405466	1.000000	0.71417	0.997000	0.53966	0.865000	0.49528	3.673000	0.54591	2.073000	0.62155	0.460000	0.39030	GAG	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.393	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	97	0	T	NM_152748	Missense_Mutation	86567530	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	28.77	52	21	SNP	0.933	C	C	86567530	T	C	86567530	5	2	18	1	0	0	0	0	0	0	1	0	8251	1565	54	4	2148	4	KIAA1324L	7	86567530	Splice_Site	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	55189221	86567530	72571133	41	5107											
KCND2	3751	genome.wustl.edu	37	chr7	119914701	119914701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaatcatggcggcgggggtGgcagcgtggctgccttttgc	4	10	18	9	3	1	0	1	0	0	0	1	0	1	0	1	6	3	3	1	6	1	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr7:119914701G>A	ENST00000331113.4	+	1	980	c.15G>A	c.(13-15)gtG>gtA	p.V5V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	5	Interaction with KCNIP2.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGGCGGGGGTGGCAGCGTGGC	0.622																																																	0													71	84	80					7																	119914701		2177	4298	6475	SO:0001819	synonymous_variant	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.15G>A	7.37:g.119914701G>A			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.V5	ENST00000331113.4	37	c.15	CCDS5776.1	7																																																																																			KCND2	-	pfam_Shal-type	ENSG00000184408		0.622	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	-	0	91	0	G	NM_012281		119914701	1	tier1	-	no_errors	ENST00000331113	ensembl	human	known	74_37	silent	11.54	92	12	SNP	0.012	A	A	119914701	G	A	119914701	2	1	18	1	0	0	0	0	0	0	0	1	8046	1335	47	3		3	KCND2	7	119914701	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	33347171	119914701	39223962	42	5108											
GRM8	2918	genome.wustl.edu	37	chr7	126173452	126173452	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagaagggctgcatagcTgaaacacatgccaagtccta	13	7	11	10	0	1	2	1	1	0	1	2	2	2	2	2	2	4	3	2	2	5	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr7:126173452T>G	ENST00000339582.2	-	9	2792	c.1984A>C	c.(1984-1986)Agc>Cgc	p.S662R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S662R|GRM8_ENST00000358373.3_Missense_Mutation_p.S662R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	662					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCTGCATAGCTGAAACACATG	0.443										HNSCC(24;0.065)																																							0													93	88	90					7																	126173452		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1984A>C	7.37:g.126173452T>G	ENSP00000344173:p.Ser662Arg		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.S662R	ENST00000339582.2	37	c.1984	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189593	0.78789	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88586	-2.4;-2.4;-2.4	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94394	0.8197	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.968	D	0.95010	0.8151	10	0.87932	D	0	.	15.2424	0.73480	0.0:0.0:0.0:1.0	.	662;662	O00222-2;O00222	.;GRM8_HUMAN	R	662	ENSP00000344173:S662R;ENSP00000409790:S662R;ENSP00000351142:S662R	ENSP00000344173:S662R	S	-	1	0	GRM8	125960688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.206000	0.71126	0.533000	0.62120	AGC	GRM8	-	pfam_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C	ENSG00000179603		0.443	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0	64	0	T			126173452	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	G	G	126173452	T	G	126173452	3	3	18	1	0	0	0	0	1	0	0	0	6830	1580	55	4	804	4	GRM8	7	126173452	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	6258751	126173452	32965211	43	5109											
TNPO3	23534	genome.wustl.edu	37	chr7	128641132	128641132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgtctaaatcttcacgtgCcacggccatatgataggcag	10	11	9	11	2	3	1	1	1	2	0	3	1	3	1	2	2	1	1	2	2	4	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr7:128641132C>T	ENST00000265388.5	-	6	996	c.853G>A	c.(853-855)Gca>Aca	p.A285T	TNPO3_ENST00000471166.1_Missense_Mutation_p.A285T|TNPO3_ENST00000482320.1_Missense_Mutation_p.A219T|TNPO3_ENST00000393245.1_Missense_Mutation_p.A285T|TNPO3_ENST00000471234.1_Missense_Mutation_p.A285T			Q9Y5L0	TNPO3_HUMAN	transportin 3	285					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCTTCACGTGCCACGGCCATA	0.428																																					Pancreas(147;583 2585 39696 52331)												0													159	137	145					7																	128641132		2203	4300	6503	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.853G>A	7.37:g.128641132C>T	ENSP00000265388:p.Ala285Thr		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.A285T	ENST00000265388.5	37	c.853	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.086851	0.94100	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	N	0.22421	0.69	0.80722	D	1	P;D;P	0.59357	0.765;0.985;0.879	B;P;P	0.51945	0.404;0.685;0.496	T	0.01301	-1.1391	10	0.16896	T	0.51	.	17.8363	0.88699	0.0:1.0:0.0:0.0	.	285;285;285	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	T	285;285;219;285;285	ENSP00000376936:A285T;ENSP00000265388:A285T;ENSP00000420089:A219T;ENSP00000418646:A285T;ENSP00000418267:A285T	ENSP00000265388:A285T	A	-	1	0	TNPO3	128428368	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.717000	0.84732	2.890000	0.99128	0.650000	0.86243	GCA	TNPO3	-	superfamily_ARM-type_fold	ENSG00000064419		0.428	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	-	0	39	0	C	NM_012470		128641132	-1	tier1	-	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	T	T	128641132	C	T	128641132	3	4	18	1	0	0	0	0	1	0	0	0	16384	739	26	3	1986	3	TNPO3	7	128641132	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	2467680	128641132	30497531	44	5110											
TRPV6	55503	genome.wustl.edu	37	chr7	142569658	142569658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttttccactgagtctttGtccaaatcctcagagccccg	8	13	7	13	1	2	2	1	1	1	1	5	2	5	2	5	0	1	1	5	0	1	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr7:142569658G>T	ENST00000359396.3	-	15	2225	c.1980C>A	c.(1978-1980)gaC>gaA	p.D660E		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	660					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGAGTCTTTGTCCAAATCCT	0.592																																																	0													92	96	95					7																	142569658		2203	4300	6503	SO:0001583	missense	0			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1980C>A	7.37:g.142569658G>T	ENSP00000352358:p.Asp660Glu		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.D660E	ENST00000359396.3	37	c.1980	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	G	0.049	-1.255641	0.01457	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.49139	0.79	5.2	3.26	0.37387	.	1.190390	0.05842	N	0.619629	T	0.35653	0.0939	L	0.27053	0.805	0.24058	N	0.996026	B	0.02656	0.0	B	0.04013	0.001	T	0.25641	-1.0126	10	0.19147	T	0.46	-10.4049	9.0942	0.36629	0.0:0.155:0.6723:0.1727	.	660	Q9H1D0	TRPV6_HUMAN	E	660;492	ENSP00000352358:D660E	ENSP00000310825:D492E	D	-	3	2	TRPV6	142279780	0.999000	0.42202	0.916000	0.36221	0.232000	0.25224	0.357000	0.20199	0.500000	0.27991	0.561000	0.74099	GAC	TRPV6	-	prints_TRPV6_channel,tigrfam_TRP_channel	ENSG00000165125		0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	-	0	43	0	G	NM_014274		142569658	-1	tier1	-	no_errors	ENST00000359396	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	142569658	G	T	142569658	3	4	18	1	0	0	0	0	1	0	0	0	16648	1368	48	3	201	3	TRPV6	7	142569658	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	13928526	142569658	16569005	45	5111											
ZNF212	7988	genome.wustl.edu	37	chr7	148951091	148951091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccttaggcccaggccacGgctgaaaccacagaccaaaa	14	3	10	14	1	0	2	0	1	0	1	0	3	0	2	5	3	2	1	5	3	4	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr7:148951091G>A	ENST00000335870.2	+	5	1201	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CCCAGGCCACGGCTGAAACCA	0.592																																																	0													50	42	44					7																	148951091		2203	4300	6503	SO:0001583	missense	0			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.1073G>A	7.37:g.148951091G>A	ENSP00000338572:p.Arg358Gln		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R358Q	ENST00000335870.2	37	c.1073	CCDS5896.1	7	.	.	.	.	.	.	.	.	.	.	G	2.303	-0.359660	0.05138	.	.	ENSG00000170260	ENST00000335870	T	0.06933	3.24	4.99	-3.4	0.04853	.	1.081660	0.07119	N	0.843587	T	0.04048	0.0113	N	0.16790	0.44	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.46693	-0.9173	10	0.07644	T	0.81	-6.9203	6.7877	0.23682	0.4781:0.0:0.4098:0.112	.	358	Q9UDV6	ZN212_HUMAN	Q	358	ENSP00000338572:R358Q	ENSP00000338572:R358Q	R	+	2	0	ZNF212	148582024	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.021000	0.03615	-0.663000	0.05331	-0.367000	0.07326	CGG	ZNF212	-	NULL	ENSG00000170260		0.592	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF212	HGNC	protein_coding	OTTHUMT00000352710.1	-	0	34	0	G	NM_012256		148951091	1	tier1	-	no_errors	ENST00000335870	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.001	A	A	148951091	G	A	148951091	3	1	18	1	0	0	0	0	1	0	0	0	17816	1116	39	1	1091	1	ZNF212	7	148951091	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	6381433	148951091	10187572	46	5112											
PDLIM2	64236	genome.wustl.edu	37	chr8	22442854	22442854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccagagtctggcatgttCcccgggcctccccgctgctg	3	10	11	17	2	1	1	0	0	1	1	4	1	4	1	6	2	1	4	6	2	0	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr8:22442854C>A	ENST00000397760.4	+	6	882	c.482C>A	c.(481-483)tCc>tAc	p.S161Y	PDLIM2_ENST00000339162.7_Missense_Mutation_p.S161Y|PDLIM2_ENST00000308354.7_Missense_Mutation_p.S411Y|PDLIM2_ENST00000265810.4_Missense_Mutation_p.S161Y|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S161Y|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S161Y|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S161Y|PDLIM2_ENST00000448520.1_3'UTR			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	161	Ser-rich.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTGGCATGTTCCCCGGGCCTC	0.672																																																	0													46	35	39					8																	22442854		2203	4299	6502	SO:0001583	missense	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.482C>A	8.37:g.22442854C>A	ENSP00000380867:p.Ser161Tyr		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S411Y	ENST00000397760.4	37	c.1232		8	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403395	0.42613	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000397761;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T	0.30182	1.75;3.33;2.4;2.37;2.4;2.37;1.54;1.65;2.4;2.48;2.37	5.31	2.5	0.30297	.	1.581180	0.03222	N	0.177707	T	0.43211	0.1237	M	0.67953	2.075	0.09310	N	1	D;P;B;P	0.54207	0.965;0.924;0.278;0.94	P;P;B;P	0.51135	0.66;0.66;0.181;0.459	T	0.08186	-1.0734	10	0.72032	D	0.01	-6.3013	3.9925	0.09543	0.167:0.5839:0.1612:0.088	.	161;161;161;161	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	Y	161;411;161;161;161;161;161;161;161;161;161	ENSP00000401992:S161Y;ENSP00000312634:S411Y;ENSP00000394376:S161Y;ENSP00000380867:S161Y;ENSP00000342035:S161Y;ENSP00000380868:S161Y;ENSP00000392920:S161Y;ENSP00000407643:S161Y;ENSP00000386868:S161Y;ENSP00000265810:S161Y;ENSP00000387084:S161Y	ENSP00000265810:S161Y	S	+	2	0	PDLIM2	22498799	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.694000	0.25512	0.223000	0.20920	0.561000	0.74099	TCC	PDLIM2	-	NULL	ENSG00000120913		0.672	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1		0	83	0	C			22442854	1			no_errors	ENST00000308354	ensembl	human	known	74_37	missense	5.94	95	6	SNP	0.000	A	A	22442854	C	A	22442854	3	1	18	1	0	0	0	0	1	0	0	0	11719	855	30	3	500	3	PDLIM2	8	22442854	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09		22442854	123921168	47	5113											
ADRA1A	148	genome.wustl.edu	37	chr8	26721737	26721737	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgcgtcttggtcttggcGctggccatcccgctgcctcc	3	11	12	15	3	2	0	0	0	2	0	4	0	4	0	4	3	2	2	4	3	1	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr8:26721737G>A	ENST00000519229.1	-	1	756	c.750C>T	c.(748-750)agC>agT	p.S250S	ADRA1A_ENST00000380581.2_Silent_p.S250S|ADRA1A_ENST00000380587.1_Silent_p.S250S|ADRA1A_ENST00000380586.1_Silent_p.S250S|ADRA1A_ENST00000380582.3_Silent_p.S250S|ADRA1A_ENST00000380572.3_Silent_p.S250S|ADRA1A_ENST00000358857.5_Silent_p.S250S|ADRA1A_ENST00000380573.3_Silent_p.S250S|ADRA1A_ENST00000354550.4_Silent_p.S250S|ADRA1A_ENST00000276393.4_Silent_p.S250S			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	323					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGTCTTGGCGCTGGCCATCC	0.617																																																	0													53	49	50					8																	26721737		2203	4300	6503	SO:0001819	synonymous_variant	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.750C>T	8.37:g.26721737G>A			Q9NPY0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.S250	ENST00000519229.1	37	c.750		8																																																																																			ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt	ENSG00000120907		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	-	0	60	0	G	NM_033303		26721737	-1	tier1	-	no_errors	ENST00000380586	ensembl	human	known	74_37	silent	11.39	70	9	SNP	0.386	A	A	26721737	G	A	26721737	2	1	18	1	0	0	0	0	0	0	0	1	334	1078	38	1		1	ADRA1A	8	26721737	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	4278883	26721737	119642285	48	5114											
TRIM35	23087	genome.wustl.edu	37	chr8	27168552	27168552	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggttggtgcgcaggtcGgcgggtgacgcgcggtcttt	2	11	20	8	6	1	1	0	1	1	0	2	1	1	1	0	6	1	2	0	6	0	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr8:27168552G>C	ENST00000305364.4	-	1	284	c.201C>G	c.(199-201)gcC>gcG	p.A67A	PTK2B_ENST00000544172.1_5'Flank|PTK2B_ENST00000338238.4_5'Flank|TRIM35_ENST00000521253.1_Silent_p.A67A|PTK2B_ENST00000397501.1_5'Flank	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	67					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TGCGCAGGTCGGCGGGTGACG	0.692																																																	0													21	20	20					8																	27168552		2197	4292	6489	SO:0001819	synonymous_variant	0			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.201C>G	8.37:g.27168552G>C			Q86XQ0|Q8WVA4	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A67	ENST00000305364.4	37	c.201	CCDS6056.2	8																																																																																			TRIM35	-	NULL	ENSG00000104228		0.692	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	-	0	62	0	G	NM_171982		27168552	-1	tier1	-	no_errors	ENST00000305364	ensembl	human	known	74_37	silent	8.00	90	8	SNP	1.000	C	C	27168552	G	C	27168552	2	2	18	1	0	0	0	0	0	0	0	1	16557	1103	39	5		5	TRIM35	8	27168552	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	446815	27168552	119195470	49	5115											
TSPYL5	85453	genome.wustl.edu	37	chr8	98289607	98289607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgaggccccctccccgCggtgctacaggtttctgggg	4	8	14	15	2	1	1	0	1	1	0	2	2	2	1	5	5	2	2	5	5	1	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr8:98289607C>A	ENST00000322128.3	-	1	569	c.466G>T	c.(466-468)Gcg>Tcg	p.A156S		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	156					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCCCTCCCCGCGGTGCTACAG	0.642																																																	0													47	57	53					8																	98289607		2201	4299	6500	SO:0001583	missense	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.466G>T	8.37:g.98289607C>A	ENSP00000322802:p.Ala156Ser		B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.A156S	ENST00000322128.3	37	c.466	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	C	8.613	0.889632	0.17540	.	.	ENSG00000180543	ENST00000322128	T	0.15139	2.45	4.05	-0.0851	0.13687	.	1.216370	0.06412	N	0.720760	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	B	0.28636	0.218	B	0.23419	0.046	T	0.34800	-0.9814	10	0.12103	T	0.63	-1.6875	1.9358	0.03337	0.3595:0.3584:0.1755:0.1066	.	156	Q86VY4	TSYL5_HUMAN	S	156	ENSP00000322802:A156S	ENSP00000322802:A156S	A	-	1	0	TSPYL5	98358783	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.274000	0.08537	-0.032000	0.13758	0.650000	0.86243	GCG	TSPYL5	-	NULL	ENSG00000180543		0.642	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	-	0	40	0	C	NM_033512		98289607	-1	tier1	-	no_errors	ENST00000322128	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.002	A	A	98289607	C	A	98289607	3	1	18	1	0	0	0	0	1	0	0	0	16710	768	27	2	791	2	TSPYL5	8	98289607	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	71121055	98289607	48074415	50	5116											
SMARCA2	6595	genome.wustl.edu	37	chr9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-																															agcaacaacagcagcagcaaCagcagcagcagcagcagcag																								rs376509101|rs62639301	byFrequency	TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR|RP11-264I13.2_ENST00000426860.1_RNA			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407). {ECO:0000305}.	aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635																																																	0																																										SO:0001651	inframe_deletion	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.667_669delCAG	9.37:g.2039786_2039788delCAG	ENSP00000371638:p.Gln238del		B1ALG3|B1ALG4|D3DRH4|D3DRH5	In_Frame_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.Q226in_frame_del	ENST00000382203.1	37	c.667_669	CCDS34977.1	9																																																																																			SMARCA2	-	NULL	ENSG00000080503		0.635	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1		0	54	0	CAG	NM_003070		2039779	1	tier1		no_errors	ENST00000349721	ensembl	human	known	74_37	in_frame_del	11.59	61	8	DEL	0.310:0.494:0.625	-	-	2039779	CAG	-	2039777	7	5	18	1	0	1	0	1	0	0	0	0	14814	479	17	0	677	0	SMARCA2	9	2039777	In_Frame_Del	DEL	CAG	TCGA-IG-A3YA-01A-11D-A247-09		2039777	139173654	51	5117											
MLLT3	4300	genome.wustl.edu	37	chr9	20363485	20363485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatactcacctgcgacttcgGctgcctcctctatttacagg	7	12	8	14	2	2	0	1	0	1	0	4	2	3	0	3	2	4	1	3	2	3	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr9:20363485G>T	ENST00000380338.4	-	7	1606	c.1320C>A	c.(1318-1320)agC>agA	p.S440R	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000380321.1_Missense_Mutation_p.S34R|MLLT3_ENST00000429426.2_Missense_Mutation_p.S437R|MLLT3_ENST00000355930.6_Missense_Mutation_p.S34R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	440					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGCGACTTCGGCTGCCTCCTC	0.468			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0													155	134	141					9																	20363485		2203	4300	6503	SO:0001583	missense	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1320C>A	9.37:g.20363485G>T	ENSP00000369695:p.Ser440Arg		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S440R	ENST00000380338.4	37	c.1320	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588835	0.13812	.	.	ENSG00000171843	ENST00000380338;ENST00000355930;ENST00000380323;ENST00000429426;ENST00000540751;ENST00000380321	.	.	.	5.49	1.37	0.22104	.	0.174595	0.64402	D	0.000008	T	0.22085	0.0532	N	0.14661	0.345	0.44492	D	0.997432	P;B	0.41041	0.736;0.148	B;B	0.30029	0.11;0.034	T	0.03728	-1.1009	9	0.26408	T	0.33	-10.1161	9.9591	0.41686	0.3066:0.0:0.6934:0.0	.	437;440	B7Z755;P42568	.;AF9_HUMAN	R	440;34;34;437;479;34	.	ENSP00000348196:S34R	S	-	3	2	MLLT3	20353485	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.425000	0.21346	0.319000	0.23209	-0.152000	0.13540	AGC	MLLT3	-	NULL	ENSG00000171843		0.468	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1		0	53	0	G	NM_004529		20363485	-1			no_errors	ENST00000380338	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	20363485	G	T	20363485	3	4	18	1	0	0	0	0	1	0	0	0	9666	1194	42	3	406	3	MLLT3	9	20363485	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	18323708	20363485	120849946	52	5118											
MASTL	84930	genome.wustl.edu	37	chr10	27459382	27459382	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctatcagtgcacaaaagTcaacaaaatgactgtgctaa	18	8	7	8	0	2	1	2	1	0	0	2	1	2	1	0	0	4	3	0	0	8	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr10:27459382T>C	ENST00000375940.4	+	8	1551	c.1494T>C	c.(1492-1494)agT>agC	p.S498S	MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Silent_p.S498S|MASTL_ENST00000342386.6_Silent_p.S498S			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	498	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCACAAAAGTCAACAAAATG	0.328																																																	0													57	57	57					10																	27459382		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1494T>C	10.37:g.27459382T>C			Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S498	ENST00000375940.4	37	c.1494	CCDS53502.1	10																																																																																			MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.328	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	-	0	48	0	T	NM_032844		27459382	1	tier1	-	no_errors	ENST00000375940	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.002	C	C	27459382	T	C	27459382	2	2	18	1	0	0	0	0	0	0	0	1	9366	1664	58	4		4	MASTL	10	27459382	Silent	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09		27459382	108075365	53	5119											
FRMPD2	143162	genome.wustl.edu	37	chr10	49440312	49440312	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaggtccctgagagccaaAtaggatttcccttttttggt	9	13	10	9	0	0	2	0	1	0	2	2	4	2	3	3	3	1	0	3	3	2	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr10:49440312A>C	ENST00000374201.3	-	10	1316	c.1014T>G	c.(1012-1014)taT>taG	p.Y338*	FRMPD2_ENST00000305531.3_Nonsense_Mutation_p.Y314*|FRMPD2_ENST00000407470.4_Nonsense_Mutation_p.Y307*	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	338					tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGAGAGCCAAATAGGATTTCC	0.433																																																	0													74	70	72					10																	49440312		2203	4300	6503	SO:0001587	stop_gained	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1014T>G	10.37:g.49440312A>C	ENSP00000363317:p.Tyr338*		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Nonsense_Mutation	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.Y338*	ENST00000374201.3	37	c.1014	CCDS31195.1	10	.	.	.	.	.	.	.	.	.	.	A	39	7.486594	0.98316	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	.	.	.	5.44	-4.18	0.03846	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0268	0.58819	0.4251:0.0:0.5749:0.0	.	.	.	.	X	338;314;307	.	ENSP00000307079:Y314X	Y	-	3	2	FRMPD2	49110318	0.000000	0.05858	0.462000	0.27118	0.995000	0.86356	-0.202000	0.09451	-0.833000	0.04245	0.533000	0.62120	TAT	FRMPD2	-	NULL	ENSG00000170324		0.433	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	-	0	27	0	A	NM_152428		49440312	-1	tier1	-	no_errors	ENST00000374201	ensembl	human	known	74_37	nonsense	21.05	30	8	SNP	0.000	C	C	49440312	A	C	49440312	4	2	18	1	0	0	0	0	0	1	0	0	6082	108	4	4	2995	4	FRMPD2	10	49440312	Nonsense_Mutation	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	21980930	49440312	86094435	54	5120											
C10orf76	79591	genome.wustl.edu	37	chr10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaaaaaaccactttGgtgttcttcttccttgtctt	10	15	7	9	0	3	1	0	0	3	1	4	2	4	1	2	1	2	2	2	1	3	6			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											125	124	124					10																	103771512		1823	4079	5902	SO:0001583	missense	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	C10orf76	-	superfamily_ARM-type_fold	ENSG00000120029		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0	28	0	G	NM_024541		103771512	-1	tier1	-	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	T	T	103771512	G	T	103771512	3	4	18	1	0	0	0	0	1	0	0	0	1621	1357	47	3	1334	3	C10orf76	10	103771512	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	54331200	103771512	31763235	55	5121											
FAM45A	404636	genome.wustl.edu	37	chr10	120882997	120882997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggactctgcctgccctgGtgtggcaccgacaggactgg	6	7	14	14	1	1	0	0	0	1	0	1	3	1	2	4	5	2	1	4	5	0	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr10:120882997G>T	ENST00000361432.2	+	6	636	c.610G>T	c.(610-612)Gtg>Ttg	p.V204L	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Missense_Mutation_p.W166C|FAM45A_ENST00000544016.1_Missense_Mutation_p.V53L	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	204										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		GCCTGCCCTGGTGTGGCACCG	0.562																																																	0													95	71	79					10																	120882997		2203	4300	6503	SO:0001583	missense	0			AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.610G>T	10.37:g.120882997G>T	ENSP00000354688:p.Val204Leu		B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	pfam_ABL9/DENND6_dom	p.V204L	ENST00000361432.2	37	c.610	CCDS7609.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.32|17.32|17.32	3.359109|3.359109|3.359109	0.61403|0.61403|0.61403	.|.|.	.|.|.	ENSG00000119979|ENSG00000119979|ENSG00000119979	ENST00000546291|ENST00000361432;ENST00000544016|ENST00000535029	.|.|.	.|.|.	.|.|.	5.65|5.65|5.65	5.65|5.65|5.65	0.86999|0.86999|0.86999	.|.|.	.|0.333417|.	.|0.33438|.	.|N|.	.|0.004915|.	T|T|T	0.75598|0.75598|0.75598	0.3871|0.3871|0.3871	M|M|M	0.68593|0.68593|0.68593	2.085|2.085|2.085	0.45378|0.45378|0.45378	D|D|D	0.998368|0.998368|0.998368	.|B;B;B;B|.	.|0.23442|.	.|0.041;0.032;0.033;0.085|.	.|B;B;B;B|.	.|0.26310|.	.|0.068;0.068;0.025;0.059|.	T|T|T	0.77531|0.77531|0.77531	-0.2553|-0.2553|-0.2553	6|9|6	0.72032|0.41790|0.87932	D|T|D	0.01|0.15|0	.|.|.	17.8954|17.8954|17.8954	0.88886|0.88886|0.88886	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|131;53;196;204|.	.|B4DNL9;B4DMU4;Q8TCE6-2;Q8TCE6|.	.|.;.;.;FA45A_HUMAN|.	V|L|C	203|204;53|166	.|.|.	ENSP00000442471:G203V|ENSP00000354688:V204L|ENSP00000444309:W166C	G|V|W	+|+|+	2|1|3	0|0|0	FAM45A|FAM45A|FAM45A	120872987|120872987|120872987	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	4.156000|4.156000|4.156000	0.58138|0.58138|0.58138	2.663000|2.663000|2.663000	0.90544|0.90544|0.90544	0.543000|0.543000|0.543000	0.68304|0.68304|0.68304	GGT|GTG|TGG	FAM45A	-	NULL	ENSG00000119979		0.562	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM45A	HGNC	protein_coding	OTTHUMT00000050623.1		0	85	0	G	NM_207009		120882997	1			no_errors	ENST00000361432	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T	T	120882997	G	T	120882997	3	4	18	1	0	0	0	0	1	0	0	0	5586	1261	44	3	632	3	FAM45A	10	120882997	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	17111485	120882997	14651750	56	5122											
ACADSB	36	genome.wustl.edu	37	chr10	124806738	124806738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagatgctgggactggCgcaaggatgttttgactaca	11	11	12	7	1	0	2	0	1	0	1	0	4	0	4	0	3	3	3	0	3	3	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr10:124806738C>T	ENST00000358776.4	+	8	928	c.914C>T	c.(913-915)gCg>gTg	p.A305V	ACADSB_ENST00000496730.2_3'UTR|ACADSB_ENST00000368869.4_Missense_Mutation_p.A203V	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	305					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	CTGGGACTGGCGCAAGGATGT	0.289																																																	0													82	86	85					10																	124806738		2203	4300	6503	SO:0001583	missense	0			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.914C>T	10.37:g.124806738C>T	ENSP00000357873:p.Ala305Val		B4DQ51|Q5SQN6|Q96CX7	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A305V	ENST00000358776.4	37	c.914	CCDS7634.1	10	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925427	0.92319	.	.	ENSG00000196177	ENST00000368869;ENST00000358776	D;D	0.97186	-4.28;-4.28	5.5	5.5	0.81552	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99140	0.9703	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99047	1.0826	10	0.87932	D	0	.	19.3976	0.94612	0.0:1.0:0.0:0.0	.	305	P45954	ACDSB_HUMAN	V	203;305	ENSP00000357862:A203V;ENSP00000357873:A305V	ENSP00000357873:A305V	A	+	2	0	ACADSB	124796728	1.000000	0.71417	0.999000	0.59377	0.780000	0.44128	7.317000	0.79018	2.575000	0.86900	0.650000	0.86243	GCG	ACADSB	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000196177		0.289	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADSB	HGNC	protein_coding	OTTHUMT00000050843.1	-	0	47	0	C	NM_001609		124806738	1	tier1	-	no_errors	ENST00000358776	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	124806738	C	T	124806738	3	4	18	1	0	0	0	0	1	0	0	0	115	768	27	1	944	1	ACADSB	10	124806738	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	3923741	124806738	10728009	57	5123											
OR10Q1	219960	genome.wustl.edu	37	chr11	57995724	57995724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatggtcagcacgaggatGctcacgacatagaggacagc	12	5	15	9	2	2	1	2	0	0	1	2	6	2	4	0	4	3	2	0	4	1	1	rs142217876		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr11:57995724G>A	ENST00000316770.2	-	1	666	c.624C>T	c.(622-624)agC>agT	p.S208S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCACGAGGATGCTCACGACAT	0.627																																																	0													81	69	73					11																	57995724		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.624C>T	11.37:g.57995724G>A			Q6IFG4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S208	ENST00000316770.2	37	c.624	CCDS31547.1	11																																																																																			OR10Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180475		0.627	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1	-	0	45	0	G	NM_001004471		57995724	-1	tier1	-	no_errors	ENST00000316770	ensembl	human	known	74_37	silent	8.86	72	7	SNP	0.304	A	A	57995724	G	A	57995724	2	1	18	1	0	0	0	0	0	0	0	1	10955	1310	46	3		3	OR10Q1	11	57995724	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		57995724	77010792	58	5124											
MS4A7	58475	genome.wustl.edu	37	chr11	60160258	60160258	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctctactccaacaaccctgGggtgagtatgctgacatgtc	9	10	10	12	0	1	2	0	2	1	0	3	2	2	2	2	2	4	3	2	2	4	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr11:60160258G>T	ENST00000300184.3	+	6	843	c.647G>T	c.(646-648)gGg>gTg	p.G216V	MS4A7_ENST00000534016.1_Splice_Site_p.G171V|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Splice_Site_p.G171V|MS4A7_ENST00000530234.2_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	216						integral component of membrane (GO:0016021)		p.N213_G216del(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AACAACCCTGGGGTGAGTATG	0.458																																																	1	Deletion - In frame(1)	central_nervous_system(1)											211	177	189					11																	60160258		2203	4300	6503	SO:0001630	splice_region_variant	0			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.648+1G>T	11.37:g.60160258G>T			A6NP53|Q6IAG8	Missense_Mutation	SNP	pfam_CD20-like	p.G216V	ENST00000300184.3	37	c.647	CCDS7985.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121807	0.77436	.	.	ENSG00000166927	ENST00000300184;ENST00000358246;ENST00000534016;ENST00000530027	T;T;T;T	0.52057	2.69;1.99;1.99;0.68	3.45	1.56	0.23342	.	3.823050	0.00649	N	0.000555	T	0.48429	0.1499	N	0.08118	0	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.52200	-0.8607	10	0.41790	T	0.15	-59.3109	5.482	0.16729	0.2586:0.0:0.7414:0.0	.	171;216	Q9GZW8-2;Q9GZW8	.;MS4A7_HUMAN	V	216;171;171;152	ENSP00000300184:G216V;ENSP00000350983:G171V;ENSP00000434637:G171V;ENSP00000434819:G152V	ENSP00000300184:G216V	G	+	2	0	MS4A7	59916834	0.987000	0.35691	0.875000	0.34327	0.908000	0.53690	1.408000	0.34668	0.460000	0.27045	0.467000	0.42956	GGG	MS4A7	-	NULL	ENSG00000166927		0.458	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A7	HGNC	protein_coding	OTTHUMT00000394299.1	-	0	66	0	G		Missense_Mutation	60160258	1	tier1	-	no_errors	ENST00000300184	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.882	T	T	60160258	G	T	60160258	5	4	18	1	0	0	0	0	0	0	1	0	9904	1246	43	3	665	3	MS4A7	11	60160258	Splice_Site	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	2164534	60160258	74846258	59	5125											
RASGRP2	10235	genome.wustl.edu	37	chr11	64497626	64497626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacacagagctggagcgcaGgaaataggaaaccatctcct	15	5	10	11	1	1	1	0	0	1	1	2	4	1	4	2	3	4	2	2	3	4	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr11:64497626G>T	ENST00000354024.3	-	13	1705	c.1453C>A	c.(1453-1455)Ctg>Atg	p.L485M	RASGRP2_ENST00000377494.1_Missense_Mutation_p.L485M|RASGRP2_ENST00000394432.3_Missense_Mutation_p.L485M|RASGRP2_ENST00000377497.3_Missense_Mutation_p.L485M	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	485	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGAGCGCAGGAAATAGGAA	0.647																																																	0													27	26	26					11																	64497626		2038	3990	6028	SO:0001583	missense	0			U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"EF-hand domain containing"	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.1453C>A	11.37:g.64497626G>T	ENSP00000338864:p.Leu485Met		A6NDC7|O00538|Q9UL65	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L485M	ENST00000354024.3	37	c.1453	CCDS31598.1	11	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326056	0.24080	.	.	ENSG00000068831	ENST00000377494;ENST00000394432;ENST00000377497;ENST00000354024	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	4.46	1.51	0.23008	EF-hand-like domain (1);	0.133235	0.50627	N	0.000116	T	0.29588	0.0738	N	0.17800	0.525	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.13407	0.009;0.009	T	0.04178	-1.0971	10	0.18276	T	0.48	-22.3423	5.4453	0.16531	0.18:0.0:0.6593:0.1607	.	485;485	Q7LDG7;A6NDC7	GRP2_HUMAN;.	M	485	ENSP00000366714:L485M;ENSP00000377953:L485M;ENSP00000366717:L485M;ENSP00000338864:L485M	ENSP00000338864:L485M	L	-	1	2	RASGRP2	64254202	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.170000	0.42443	0.228000	0.21019	-0.291000	0.09656	CTG	RASGRP2	-	smart_EF_hand_dom	ENSG00000068831		0.647	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RASGRP2	HGNC	protein_coding	OTTHUMT00000142062.1		0	34	0	G	NM_153819		64497626	-1			no_errors	ENST00000377494	ensembl	human	known	74_37	missense	6.67	55	4	SNP	1.000	T	T	64497626	G	T	64497626	3	4	18	1	0	0	0	0	1	0	0	0	13120	991	35	3	392	3	RASGRP2	11	64497626	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	4337368	64497626	70508890	60	5126											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	8	5	11	17	3	1	0	1	0	0	0	1	0	1	0	5	1	5	3	5	1	1	1	rs4014596		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																																	1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	UNC93B1	-	NULL	ENSG00000110057		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding			0	37	0	C	NM_030930		67759316	-1			no_errors	ENST00000227471	ensembl	human	known	74_37	missense	8.97	71	7	SNP	0.997	T	T	67759316	C	T	67759316	3	4	18	1	0	0	0	0	1	0	0	0	17046	507	18	3	302	3	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	3261690	67759316	67247200	61	5127											
ANO1	55107	genome.wustl.edu	37	chr11	70009403	70009403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtttgttggacgccCgggcgactacgtgtacattt	6	14	12	9	4	1	0	1	0	0	0	1	2	1	1	1	3	2	3	1	3	2	6			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr11:70009403C>T	ENST00000355303.5	+	19	2212	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L	ANO1_ENST00000531349.1_Missense_Mutation_p.P345L|ANO1_ENST00000530676.1_Missense_Mutation_p.P490L|ANO1_ENST00000398543.2_Missense_Mutation_p.P490L|ANO1_ENST00000316296.5_Missense_Mutation_p.P578L|ANO1_ENST00000538023.1_Missense_Mutation_p.P636L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	636					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTTGGACGCCCGGGCGACTAC	0.532																																																	0													60	63	62					11																	70009403		1943	4123	6066	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1907C>T	11.37:g.70009403C>T	ENSP00000347454:p.Pro636Leu		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.P636L	ENST00000355303.5	37	c.1907	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768117	0.69878	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349	T;T;T;T;T;T	0.73681	-0.34;-0.43;-0.77;-0.35;-0.77;-0.44	5.08	5.08	0.68730	.	0.056642	0.64402	D	0.000001	D	0.90707	0.7084	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.93376	0.6739	9	.	.	.	.	18.8833	0.92365	0.0:1.0:0.0:0.0	.	345;578;636	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	L	636;636;490;394;578;490;345	ENSP00000347454:P636L;ENSP00000444689:P636L;ENSP00000381551:P490L;ENSP00000319477:P578L;ENSP00000435797:P490L;ENSP00000432843:P345L	.	P	+	2	0	ANO1	69687051	1.000000	0.71417	0.952000	0.39060	0.200000	0.23975	6.972000	0.76110	2.535000	0.85469	0.655000	0.94253	CCG	ANO1	-	pfam_Anoctamin	ENSG00000131620		0.532	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	-	0	44	0	C	NM_018043		70009403	1	tier1	-	no_errors	ENST00000355303	ensembl	human	known	74_37	missense	15.31	83	15	SNP	1.000	T	T	70009403	C	T	70009403	3	4	18	1	0	0	0	0	1	0	0	0	695	652	23	1	1981	1	ANO1	11	70009403	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	2250087	70009403	64997113	62	5128											
VWA5A	4013	genome.wustl.edu	37	chr11	123989252	123989252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatagggtcgtctaaggAcagttgccttaatgtgaaga	11	14	11	5	1	1	2	0	1	1	1	2	3	1	3	1	2	1	1	1	2	5	6			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr11:123989252A>G	ENST00000456829.2	+	6	733	c.482A>G	c.(481-483)gAc>gGc	p.D161G	VWA5A_ENST00000361352.5_Missense_Mutation_p.D161G|VWA5A_ENST00000449321.1_Missense_Mutation_p.D161G|VWA5A_ENST00000360334.4_Missense_Mutation_p.D161G|VWA5A_ENST00000392748.1_Missense_Mutation_p.D161G|VWA5A_ENST00000392744.4_Missense_Mutation_p.D177G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	161										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCGTCTAAGGACAGTTGCCTT	0.448																																																	0													158	155	156					11																	123989252		2201	4299	6500	SO:0001583	missense	0			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.482A>G	11.37:g.123989252A>G	ENSP00000407726:p.Asp161Gly		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D161G	ENST00000456829.2	37	c.482	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	A	6.796	0.515892	0.12944	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.26067	3.61;1.76;3.61;2.12;2.12;2.11	5.41	0.2	0.15181	.	1.283070	0.04667	N	0.410012	T	0.24275	0.0588	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.003	T	0.26292	-1.0107	10	0.34782	T	0.22	-7.1257	5.0702	0.14602	0.4095:0.3976:0.1929:0.0	.	177;161	B4DHS6;O00534	.;VMA5A_HUMAN	G	161;161;161;161;161;161;161;177	ENSP00000407726:D161G;ENSP00000353485:D161G;ENSP00000376504:D161G;ENSP00000355070:D161G;ENSP00000404683:D161G;ENSP00000376501:D177G	ENSP00000353485:D161G	D	+	2	0	VWA5A	123494462	0.000000	0.05858	0.005000	0.12908	0.037000	0.13140	0.127000	0.15790	0.025000	0.15241	0.528000	0.53228	GAC	VWA5A	-	NULL	ENSG00000110002		0.448	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	-	0	47	0	A	NM_014622		123989252	1	tier1	-	no_errors	ENST00000392748	ensembl	human	known	74_37	missense	8.70	63	6	SNP	0.001	G	G	123989252	A	G	123989252	3	3	18	1	0	0	0	0	1	0	0	0	17291	275	10	4	496	4	VWA5A	11	123989252	Missense_Mutation	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	53979849	123989252	11017264	63	5129											
CHD4	1108	genome.wustl.edu	37	chr12	6707388	6707388	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagactatcctaaacttacCtgcagttcagaaacccagga	14	8	6	13	0	1	2	1	0	0	2	2	3	2	3	4	1	4	2	4	1	5	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr12:6707388C>T	ENST00000357008.2	-	11	1849	c.1686G>A	c.(1684-1686)caG>caA	p.Q562Q	CHD4_ENST00000544040.1_Splice_Site_p.Q555Q|CHD4_ENST00000544484.1_Splice_Site_p.Q559Q|CHD4_ENST00000309577.6_Splice_Site_p.Q562Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	562	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CTAAACTTACCTGCAGTTCAG	0.522																																					Colon(32;586 792 4568 16848 45314)												0													110	114	113					12																	6707388		2203	4300	6503	SO:0001630	splice_region_variant	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1686+1G>A	12.37:g.6707388C>T			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q562	ENST00000357008.2	37	c.1686	CCDS8552.1	12																																																																																			CHD4	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000111642		0.522	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		-	0	96	0	C	NM_001273	Silent	6707388	-1	tier1	-	no_errors	ENST00000309577	ensembl	human	known	74_37	silent	13.16	99	15	SNP	1.000	T	T	6707388	C	T	6707388	5	4	18	1	0	0	0	0	0	0	1	0	3334	695	24	3	4172	3	CHD4	12	6707388	Splice_Site	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09		6707388	127144507	64	5130											
AVIL	10677	genome.wustl.edu	37	chr12	58204170	58204170	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctgcttctgatctatGatctcatcagggactgtagg	8	15	10	8	0	5	2	2	2	4	0	6	4	5	3	0	2	1	2	0	2	2	4	rs547034263		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr12:58204170G>T	ENST00000257861.3	-	6	1153	c.723C>A	c.(721-723)atC>atA	p.I241I	AVIL_ENST00000537081.1_Silent_p.I234I	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	241	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.I241M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCTGATCTATGATCTCATCAG	0.522													G|||	1	0.000199681	8e-04	0	5008	,	,		20665	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	prostate(1)											120	109	113					12																	58204170		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.723C>A	12.37:g.58204170G>T			B2RAU7|Q2NKM9	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.I241	ENST00000257861.3	37	c.723	CCDS8959.1	12																																																																																			AVIL	-	NULL	ENSG00000135407		0.522	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	-	0	64	0	G	NM_006576		58204170	-1	tier1	-	no_errors	ENST00000257861	ensembl	human	known	74_37	silent	19.67	49	12	SNP	0.002	T	T	58204170	G	T	58204170	2	4	18	1	0	0	0	0	0	0	0	1	1228	1280	45	3		3	AVIL	12	58204170	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	51496782	58204170	75647725	65	5131											
MGAT4C	25834	genome.wustl.edu	37	chr12	86373140	86373140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgacatatatcctcataCaatgtatatcaaatggaatt	15	14	6	6	0	2	1	2	1	0	0	3	2	3	2	1	2	1	1	1	2	8	6			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr12:86373140C>A	ENST00000604798.1	-	8	2568	c.1364G>T	c.(1363-1365)tGt>tTt	p.C455F	MGAT4C_ENST00000552808.2_Missense_Mutation_p.C455F|MGAT4C_ENST00000393205.2_Missense_Mutation_p.C484F|MGAT4C_ENST00000548651.1_Missense_Mutation_p.C455F|MGAT4C_ENST00000332156.1_Missense_Mutation_p.C455F|MGAT4C_ENST00000549405.2_Missense_Mutation_p.C455F			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	455					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.C455Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TATCCTCATACAATGTATATC	0.308																																																	1	Substitution - Missense(1)	kidney(1)											78	78	78					12																	86373140		2203	4300	6503	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.1364G>T	12.37:g.86373140C>A	ENSP00000474896:p.Cys455Phe		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.C484F	ENST00000604798.1	37	c.1451	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700331	0.68501	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651	T;T;T;T;T	0.36340	1.3;1.26;1.3;1.3;1.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69495	-0.5130	10	0.72032	D	0.01	-10.3016	19.9607	0.97248	0.0:1.0:0.0:0.0	.	484;455	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	F	455;484;455;455;455;455	ENSP00000331664:C455F;ENSP00000376900:C484F;ENSP00000449022:C455F;ENSP00000446647:C455F;ENSP00000447253:C455F	ENSP00000331664:C455F	C	-	2	0	MGAT4C	84897271	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	7.814000	0.86154	2.713000	0.92767	0.585000	0.79938	TGT	MGAT4C	-	NULL	ENSG00000182050		0.308	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	-	0	64	0	C	NM_013244		86373140	-1	tier1	-	no_errors	ENST00000393205	ensembl	human	known	74_37	missense	12.90	81	12	SNP	1.000	A	A	86373140	C	A	86373140	3	1	18	1	0	0	0	0	1	0	0	0	9585	478	17	3	76	3	MGAT4C	12	86373140	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	28168970	86373140	47478755	66	5132											
NOS1	4842	genome.wustl.edu	37	chr12	117703277	117703277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcttaatgaaggactcGgtggcggagtgatggtcaac	10	10	15	6	2	1	2	1	2	0	0	2	4	1	4	0	5	2	1	0	5	3	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr12:117703277G>A	ENST00000338101.4	-	11	1984	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	NOS1_ENST00000317775.6_Silent_p.T660T|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGAAGGACTCGGTGGCGGAGT	0.597																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													51	50	50					12																	117703277		2069	4249	6318	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1980C>T	12.37:g.117703277G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.T660	ENST00000338101.4	37	c.1980	CCDS55890.1	12																																																																																			NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000089250		0.597	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	98	0	G			117703277	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	7.44	112	9	SNP	0.750	A	A	117703277	G	A	117703277	2	1	18	1	0	0	0	0	0	0	0	1	10580	1103	39	1		1	NOS1	12	117703277	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	31330137	117703277	16148618	67	5133											
GCN1L1	10985	genome.wustl.edu	37	chr12	120580662	120580662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaaagttatcatccTcagaggcagtttctgtggtc	9	13	9	10	0	3	1	2	0	1	1	6	1	5	1	2	2	0	4	2	2	2	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr12:120580662T>A	ENST00000300648.6	-	43	5591	c.5579A>T	c.(5578-5580)gAg>gTg	p.E1860V		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1860					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTTATCATCCTCAGAGGCAGT	0.547																																																	0													155	155	155					12																	120580662		2046	4200	6246	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5579A>T	12.37:g.120580662T>A	ENSP00000300648:p.Glu1860Val		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E1860V	ENST00000300648.6	37	c.5579	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471630	0.84533	.	.	ENSG00000089154	ENST00000300648	T	0.56611	0.45	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.77262	-0.2653	10	0.87932	D	0	-21.2584	16.4473	0.83942	0.0:0.0:0.0:1.0	.	1860	Q92616	GCN1L_HUMAN	V	1860	ENSP00000300648:E1860V	ENSP00000300648:E1860V	E	-	2	0	GCN1L1	119065045	1.000000	0.71417	0.844000	0.33320	0.784000	0.44337	7.484000	0.81180	2.281000	0.76405	0.533000	0.62120	GAG	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1		0	47	0	T			120580662	-1			no_errors	ENST00000300648	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A	A	120580662	T	A	120580662	3	1	18	1	0	0	0	0	1	0	0	0	6324	1551	54	5	2500	5	GCN1L1	12	120580662	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	2877385	120580662	13271233	68	5134											
TBC1D4	9882	genome.wustl.edu	37	chr13	75869023	75869023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatcctaatgaaaactGagaggcaaacaatgtgagga	19	7	9	6	0	0	3	0	3	0	1	1	5	1	4	1	2	3	1	1	2	7	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr13:75869023G>T	ENST00000377636.3	-	18	3629	c.3283C>A	c.(3283-3285)Cag>Aag	p.Q1095K	TBC1D4_ENST00000425511.1_Missense_Mutation_p.Q259K|TBC1D4_ENST00000377625.2_Missense_Mutation_p.Q1032K|TBC1D4_ENST00000431480.2_Missense_Mutation_p.Q1087K|TBC1D4_ENST00000478591.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1095	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.Q1095E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AATGAAAACTGAGAGGCAAAC	0.388																																																	1	Substitution - Missense(1)	cervix(1)											68	67	68					13																	75869023		1912	4164	6076	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.3283C>A	13.37:g.75869023G>T	ENSP00000366863:p.Gln1095Lys		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.Q1095K	ENST00000377636.3	37	c.3283	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.377005	0.95945	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.55	5.55	0.83447	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000003	T	0.37972	0.1023	L	0.35288	1.05	0.80722	D	1	D;D;P;D	0.76494	0.991;0.991;0.95;0.999	P;P;P;D	0.77004	0.757;0.89;0.522;0.989	T	0.03993	-1.0986	10	0.41790	T	0.15	-23.5218	19.5156	0.95162	0.0:0.0:1.0:0.0	.	259;1032;1087;1095	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	K	1095;1087;1032;259	ENSP00000366863:Q1095K;ENSP00000395986:Q1087K;ENSP00000366852:Q1032K;ENSP00000390654:Q259K	ENSP00000366852:Q1032K	Q	-	1	0	TBC1D4	74767024	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	9.338000	0.96553	2.605000	0.88082	0.563000	0.77884	CAG	TBC1D4	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000136111		0.388	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1		0	36	0	G	NM_014832		75869023	-1			no_errors	ENST00000377636	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	75869023	G	T	75869023	3	4	18	1	0	0	0	0	1	0	0	0	15669	1299	45	3	629	3	TBC1D4	13	75869023	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		75869023	39300855	69	5135											
MMP14	4323	genome.wustl.edu	37	chr14	23310779	23310779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccccagtcactctcagCggccatcgctgccatgcaga	8	7	8	18	2	3	1	3	0	1	1	5	1	3	1	4	1	3	2	4	1	0	0	rs554056813		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr14:23310779C>T	ENST00000311852.6	+	2	449	c.188C>T	c.(187-189)gCg>gTg	p.A63V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	63					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TCACTCTCAGCGGCCATCGCT	0.572																																																	0													114	87	96					14																	23310779		2203	4300	6503	SO:0001583	missense	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.188C>T	14.37:g.23310779C>T	ENSP00000308208:p.Ala63Val		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.A63V	ENST00000311852.6	37	c.188	CCDS9577.1	14	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266555	0.80358	.	.	ENSG00000157227	ENST00000311852;ENST00000548761	T;T	0.38240	1.15;1.15	5.64	4.75	0.60458	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.105283	0.64402	D	0.000004	T	0.38026	0.1025	M	0.62723	1.935	0.43137	D	0.994881	B	0.31485	0.325	B	0.29862	0.108	T	0.32798	-0.9893	10	0.56958	D	0.05	.	14.9842	0.71332	0.144:0.856:0.0:0.0	.	63	P50281	MMP14_HUMAN	V	63;69	ENSP00000308208:A63V;ENSP00000446989:A69V	ENSP00000308208:A63V	A	+	2	0	MMP14	22380619	0.905000	0.30787	1.000000	0.80357	0.988000	0.76386	3.947000	0.56652	1.378000	0.46305	-0.158000	0.13435	GCG	MMP14	-	pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like	ENSG00000157227		0.572	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	-	0	75	0	C	NM_004995		23310779	1	tier1	-	no_errors	ENST00000311852	ensembl	human	known	74_37	missense	17.78	74	16	SNP	1.000	T	T	23310779	C	T	23310779	3	4	18	1	0	0	0	0	1	0	0	0	9691	768	27	1	194	1	MMP14	14	23310779	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09		23310779	84038761	70	5136											
MYH7	4625	genome.wustl.edu	37	chr14	23886458	23886458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctctgtgctgagggagcGagcctccttctgcgaggact	6	9	15	11	2	2	1	0	1	2	0	3	6	3	3	2	2	5	2	2	2	0	1	rs139646545		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr14:23886458G>A	ENST00000355349.3	-	32	4585	c.4423C>T	c.(4423-4425)Cgc>Tgc	p.R1475C	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1475			R -> C. {ECO:0000269|PubMed:15483641}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTGAGGGAGCGAGCCTCCTTC	0.577																																																	0			GRCh37	CM050711	MYH7	M	rs139646545	G	CYS/ARG	0,4406		0,0,2203	96	98	97		4423	5.3	1	14	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYH7	NM_000257.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1475/1936	23886458	1,13005	2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4423C>T	14.37:g.23886458G>A	ENSP00000347507:p.Arg1475Cys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1475C	ENST00000355349.3	37	c.4423	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909150	0.72868	0.0	1.16E-4	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83914	-1.78	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.94479	0.8223	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95906	0.8919	9	0.72032	D	0.01	.	15.4652	0.75394	0.0:0.0:0.8611:0.1389	.	1475	P12883	MYH7_HUMAN	C	1475;1480	ENSP00000347507:R1475C	ENSP00000347507:R1475C	R	-	1	0	MYH7	22956298	0.989000	0.36119	0.994000	0.49952	0.986000	0.74619	1.988000	0.40697	2.746000	0.94184	0.591000	0.81541	CGC	MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	39	0	G	NM_000257		23886458	-1	tier1	rs139646545	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	23.19	53	16	SNP	0.967	A	A	23886458	G	A	23886458	3	1	18	1	0	0	0	0	1	0	0	0	10077	1058	37	1	1420	1	MYH7	14	23886458	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	575679	23886458	83463082	71	5137											
TXNDC16	57544	genome.wustl.edu	37	chr14	52899183	52899183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttatcattctcctgcaCatctgtttctttcatacact	7	19	2	13	0	5	0	2	0	3	0	7	0	6	0	2	0	2	2	2	0	2	6			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr14:52899183C>A	ENST00000281741.4	-	21	2688	c.2317G>T	c.(2317-2319)Gtg>Ttg	p.V773L		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	773					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTCTCCTGCACATCTGTTTCT	0.388																																																	0													92	90	91					14																	52899183		2203	4300	6503	SO:0001583	missense	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.2317G>T	14.37:g.52899183C>A	ENSP00000281741:p.Val773Leu		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.V773L	ENST00000281741.4	37	c.2317	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	1.920	-0.448524	0.04572	.	.	ENSG00000087301	ENST00000281741	T	0.17213	2.29	5.42	-1.66	0.08265	.	0.670453	0.13834	N	0.359530	T	0.08403	0.0209	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.40794	-0.9544	10	0.13470	T	0.59	-15.832	6.8601	0.24062	0.0:0.4225:0.1828:0.3947	.	768;773	B7ZME4;Q9P2K2	.;TXD16_HUMAN	L	773	ENSP00000281741:V773L	ENSP00000281741:V773L	V	-	1	0	TXNDC16	51968933	0.000000	0.05858	0.009000	0.14445	0.272000	0.26649	-0.510000	0.06328	-0.097000	0.12307	0.644000	0.83932	GTG	TXNDC16	-	NULL	ENSG00000087301		0.388	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	-	0	73	0	C	XM_051699		52899183	-1	tier1	-	no_errors	ENST00000281741	ensembl	human	known	74_37	missense	15.66	70	13	SNP	0.006	A	A	52899183	C	A	52899183	3	1	18	1	0	0	0	0	1	0	0	0	16844	478	17	3	164	3	TXNDC16	14	52899183	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	29012725	52899183	54450357	72	5138											
FBN1	2200	genome.wustl.edu	37	chr15	48808454	48808454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgaggtccaggaggaaagCcaggaggaacagggagaact	14	5	16	6	0	0	2	0	1	0	1	1	7	1	6	2	6	3	0	2	6	3	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr15:48808454C>A	ENST00000316623.5	-	11	1708	c.1253G>T	c.(1252-1254)gGc>gTc	p.G418V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	418	Pro-rich.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGAGGAAAGCCAGGAGGAAC	0.502																																																	0													115	121	119					15																	48808454		2197	4296	6493	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1253G>T	15.37:g.48808454C>A	ENSP00000325527:p.Gly418Val		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G418V	ENST00000316623.5	37	c.1253	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	11.36	1.615055	0.28712	.	.	ENSG00000166147	ENST00000316623	D	0.81739	-1.53	5.54	3.55	0.40652	.	0.547984	0.21330	N	0.076307	T	0.71151	0.3306	L	0.43923	1.385	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64202	-0.6463	10	0.15499	T	0.54	.	12.1625	0.54110	0.3085:0.6915:0.0:0.0	.	418	P35555	FBN1_HUMAN	V	418	ENSP00000325527:G418V	ENSP00000325527:G418V	G	-	2	0	FBN1	46595746	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.634000	0.24614	1.534000	0.49203	0.655000	0.94253	GGC	FBN1	-	pirsf_FBN	ENSG00000166147		0.502	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	37	0	C			48808454	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A	A	48808454	C	A	48808454	3	1	18	1	0	0	0	0	1	0	0	0	5724	739	26	3	7586	3	FBN1	15	48808454	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09		48808454	53722938	73	5139											
SLTM	79811	genome.wustl.edu	37	chr15	59189346	59189346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaagaggttcttcaaatCagcagctttggtattagatg	12	12	10	7	0	3	2	2	0	1	2	3	2	3	2	1	2	2	4	1	2	4	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr15:59189346C>G	ENST00000380516.2	-	9	1282	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H	SLTM_ENST00000536328.1_5'UTR	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	399	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCTTCAAATCAGCAGCTTTG	0.348																																																	0													106	103	104					15																	59189346		2192	4291	6483	SO:0001583	missense	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1195G>C	15.37:g.59189346C>G	ENSP00000369887:p.Asp399His		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.D399H	ENST00000380516.2	37	c.1195	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614528	0.87359	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	T;T	0.77877	-1.13;-1.13	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.56097	D	0.000033	D	0.89856	0.6836	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.90973	0.4821	10	0.87932	D	0	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	399	Q9NWH9	SLTM_HUMAN	H	399;381	ENSP00000369887:D399H;ENSP00000249736:D381H	ENSP00000249736:D381H	D	-	1	0	SLTM	56976638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.680000	0.91292	0.655000	0.94253	GAT	SLTM	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000137776		0.348	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	-	0	47	0	C	NM_024755		59189346	-1	tier1	-	no_errors	ENST00000380516	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	G	G	59189346	C	G	59189346	3	3	18	1	0	0	0	0	1	0	0	0	14799	826	29	5	1961	5	SLTM	15	59189346	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	10380892	59189346	43342046	74	5140											
DENND4A	10260	genome.wustl.edu	37	chr15	66031173	66031173	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacagattccggtagtgaGaatgactcataatcttcttg	12	12	10	7	1	3	3	1	2	2	2	4	5	4	4	1	2	1	1	1	2	4	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr15:66031173G>C	ENST00000431932.2	-	6	880	c.672C>G	c.(670-672)ttC>ttG	p.F224L	DENND4A_ENST00000443035.3_Missense_Mutation_p.F224L	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	224	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CCGGTAGTGAGAATGACTCAT	0.338																																																	0													76	75	75					15																	66031173		1827	4076	5903	SO:0001583	missense	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.672C>G	15.37:g.66031173G>C	ENSP00000396830:p.Phe224Leu		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.F224L	ENST00000431932.2	37	c.672	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967903	0.74131	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.43688	0.94;0.94	5.34	3.45	0.39498	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.65026	0.2652	M	0.86805	2.84	0.80722	D	1	D;D;D	0.76494	0.971;0.999;0.999	D;D;D	0.83275	0.949;0.996;0.994	T	0.66428	-0.5926	10	0.87932	D	0	.	8.4921	0.33106	0.2986:0.0:0.7014:0.0	.	224;224;224	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	L	224	ENSP00000391167:F224L;ENSP00000396830:F224L	ENSP00000396830:F224L	F	-	3	2	DENND4A	63818227	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.906000	0.39887	0.623000	0.30267	0.484000	0.47621	TTC	DENND4A	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000174485		0.338	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1		0	24	0	G	NM_005848		66031173	-1			no_errors	ENST00000443035	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	C	C	66031173	G	C	66031173	3	2	18	1	0	0	0	0	1	0	0	0	4447	933	33	5	5160	5	DENND4A	15	66031173	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	6841827	66031173	36500219	75	5141											
PIAS1	8554	genome.wustl.edu	37	chr15	68438931	68438931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctacaaaaaatggcGtggaaccaaagcgacccagc	15	5	8	13	2	0	0	0	0	0	0	1	2	1	1	4	2	4	0	4	2	6	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr15:68438931G>T	ENST00000249636.6	+	6	869	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	PIAS1_ENST00000545237.1_Missense_Mutation_p.V243L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	241	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V241L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAAAAATGGCGTGGAACCAAA	0.368																																																	1	Substitution - Missense(1)	endometrium(1)											95	90	91					15																	68438931		1825	4074	5899	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.721G>T	15.37:g.68438931G>T	ENSP00000249636:p.Val241Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.V241L	ENST00000249636.6	37	c.721	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.264597	0.95399	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.43294	0.95;0.95	5.55	5.55	0.83447	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.64567	1.98	0.80722	D	1	P;P	0.52316	0.952;0.893	P;P	0.58077	0.832;0.627	T	0.62077	-0.6930	10	0.72032	D	0.01	-9.8198	19.5037	0.95106	0.0:0.0:1.0:0.0	.	241;241	C5J4B4;O75925	.;PIAS1_HUMAN	L	241;243	ENSP00000249636:V241L;ENSP00000438574:V243L	ENSP00000249636:V241L	V	+	1	0	PIAS1	66225985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.596000	0.87737	0.655000	0.94253	GTG	PIAS1	-	NULL	ENSG00000033800		0.368	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2	-	0	52	0	G			68438931	1	tier1	-	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	68438931	G	T	68438931	3	4	18	1	0	0	0	0	1	0	0	0	11914	1145	40	2	743	2	PIAS1	15	68438931	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	2407758	68438931	34092461	76	5142			1	5		2	2	14	G		4.70323e-05
PIAS1	8554	genome.wustl.edu	37	chr15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcgtggaaccaaagcGacccagccgaccaattaata	16	5	9	11	3	0	0	0	0	0	0	0	3	0	1	4	2	3	0	4	2	6	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											114	108	110					15																	68438944		1832	4072	5904	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	PIAS1	-	NULL	ENSG00000033800		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2		0	55	0	G			68438944	1			no_errors	ENST00000249636	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	68438944	G	T	68438944	3	4	18	1	0	0	0	0	1	0	0	0	11914	1058	37	2	756	2	PIAS1	15	68438944	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	13	68438944	34092448	77	5143			1	5		2	2	14	G		4.70323e-05
MCTP2	55784	genome.wustl.edu	37	chr15	94942290	94942290	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaccttatatataatcCggtaagtctagctgggtcat	11	13	10	7	1	2	0	1	0	1	0	3	2	3	1	2	3	1	2	2	3	6	6	rs528835766		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr15:94942290C>T	ENST00000357742.4	+	14	1889	c.1889C>T	c.(1888-1890)cCg>cTg	p.P630L	MCTP2_ENST00000331706.4_Splice_Site_p.P218L|MCTP2_ENST00000557742.1_Splice_Site_p.P218L|MCTP2_ENST00000451018.3_Splice_Site_p.P630L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	630					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ATATATAATCCGGTAAGTCTA	0.363													C|||	1	0.000199681	0	0	5008	,	,		18080	0		0.001	False		,,,				2504	0																0													63	65	64					15																	94942290		2197	4298	6495	SO:0001630	splice_region_variant	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1890+1C>T	15.37:g.94942290C>T			A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P630L	ENST00000357742.4	37	c.1889	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	C	15.75	2.927029	0.52759	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.70164	-0.46;0.08;-0.29	5.28	5.28	0.74379	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.972;1.0;1.0	P;D;D	0.77557	0.742;0.984;0.99	T	0.81482	-0.0913	10	0.66056	D	0.02	.	18.9233	0.92534	0.0:1.0:0.0:0.0	.	630;218;630	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	L	630;218;630	ENSP00000395109:P630L;ENSP00000329646:P218L;ENSP00000350377:P630L	ENSP00000329646:P218L	P	+	2	0	MCTP2	92743294	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	5.504000	0.66968	2.470000	0.83445	0.655000	0.94253	CCG	MCTP2	-	superfamily_C2_dom	ENSG00000140563		0.363	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	-	0	29	0	C	NM_018349	Missense_Mutation	94942290	1	tier1	-	no_errors	ENST00000357742	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	94942290	C	T	94942290	5	4	18	1	0	0	0	0	0	0	1	0	9439	666	23	1	1943	1	MCTP2	15	94942290	Splice_Site	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	26503346	94942290	7589102	78	5144											
PRSS22	64063	genome.wustl.edu	37	chr16	2905760	2905760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagggtggggctccaccCaggcaacacccaccttctgg	9	5	11	16	0	1	0	0	0	1	0	2	0	2	0	4	5	1	2	4	5	1	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr16:2905760C>G	ENST00000161006.3	-	4	439	c.374G>C	c.(373-375)tGg>tCg	p.W125S	LA16c-325D7.1_ENST00000577140.1_RNA|PRSS22_ENST00000571228.1_Intron|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GGGCTCCACCCAGGCAACACC	0.612																																																	0													59	59	59					16																	2905760		2198	4300	6498	SO:0001583	missense	0			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.374G>C	16.37:g.2905760C>G	ENSP00000161006:p.Trp125Ser		O43342|Q6UXE0	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.W125S	ENST00000161006.3	37	c.374	CCDS10481.1	16	.	.	.	.	.	.	.	.	.	.	c	1.172	-0.640687	0.03557	.	.	ENSG00000005001	ENST00000161006	T	0.80123	-1.34	4.48	2.48	0.30137	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.628475	0.14319	N	0.327136	T	0.38612	0.1047	N	0.00125	-2.05	0.80722	D	1	B	0.17268	0.021	B	0.18871	0.023	T	0.37619	-0.9698	10	0.11182	T	0.66	.	5.6073	0.17387	0.0:0.6886:0.2035:0.1079	.	125	Q9GZN4	BSSP4_HUMAN	S	125	ENSP00000161006:W125S	ENSP00000161006:W125S	W	-	2	0	PRSS22	2845761	0.002000	0.14202	0.998000	0.56505	0.924000	0.55760	0.138000	0.16016	1.163000	0.42636	0.555000	0.69702	TGG	PRSS22	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000005001		0.612	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS22	HGNC	protein_coding	OTTHUMT00000250943.1	-	0	22	0	C	NM_022119		2905760	-1	tier1	-	no_errors	ENST00000161006	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.996	G	G	2905760	C	G	2905760	3	3	18	1	0	0	0	0	1	0	0	0	12661	595	21	5	591	5	PRSS22	16	2905760	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09		2905760	87448993	79	5145											
KIAA0430	9665	genome.wustl.edu	37	chr16	15733071	15733071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctactgcaggagttctcaGttccgtttccttccatcata	7	16	6	12	1	3	0	2	0	2	0	7	1	6	1	3	1	2	4	3	1	2	7			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr16:15733071G>T	ENST00000396368.3	-	2	226	c.20C>A	c.(19-21)aCt>aAt	p.T7N	KIAA0430_ENST00000602337.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000344181.3_De_novo_Start_OutOfFrame|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T7N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T7N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T7N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	7					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGAGTTCTCAGTTCCGTTTCC	0.408																																																	0													243	227	232					16																	15733071		1969	4167	6136	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.20C>A	16.37:g.15733071G>T	ENSP00000379654:p.Thr7Asn		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.T7N	ENST00000396368.3	37	c.20	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356028	0.41700	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000548025;ENST00000551742;ENST00000551298;ENST00000549219	.	.	.	5.62	4.66	0.58398	.	0.176845	0.47455	D	0.000229	T	0.50803	0.1637	L	0.32530	0.975	0.80722	D	1	B;B;B;B;B	0.33694	0.015;0.421;0.421;0.421;0.297	B;B;B;B;B	0.36289	0.014;0.221;0.221;0.221;0.11	T	0.55315	-0.8160	9	0.72032	D	0.01	.	15.6833	0.77391	0.0:0.2591:0.7409:0.0	.	6;6;7;6;6	Q9Y4F3-6;Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;.;LKAP_HUMAN	N	7;7;6;7;7;7;7	.	ENSP00000315718:T6N	T	-	2	0	KIAA0430	15640572	0.997000	0.39634	1.000000	0.80357	0.569000	0.35902	1.577000	0.36515	1.354000	0.45846	0.655000	0.94253	ACT	KIAA0430	-	NULL	ENSG00000166783		0.408	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	-	0	83	0	G	NM_014647		15733071	-1	tier1	-	no_errors	ENST00000396368	ensembl	human	known	74_37	missense	15.62	54	10	SNP	1.000	T	T	15733071	G	T	15733071	3	4	18	1	0	0	0	0	1	0	0	0	8204	1029	36	3	5315	3	KIAA0430	16	15733071	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	12827311	15733071	74621682	80	5146											
ACADVL	37	genome.wustl.edu	37	chr17	7127680	7127680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagtctcagcggacttGtccacccggagttgagtcgg	6	9	14	12	3	1	2	1	2	1	0	4	4	2	4	3	3	1	1	3	3	0	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:7127680G>A	ENST00000356839.5	+	16	1752	c.1573G>A	c.(1573-1575)Gtc>Atc	p.V525I	MIR324_ENST00000362183.1_RNA|ACADVL_ENST00000350303.5_Missense_Mutation_p.V503I|ACADVL_ENST00000543245.2_Missense_Mutation_p.V548I	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	525					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CAGCGGACTTGTCCACCCGGA	0.657																																																	0													54	54	54					17																	7127680		2203	4300	6503	SO:0001583	missense	0			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1573G>A	17.37:g.7127680G>A	ENSP00000349297:p.Val525Ile		B4DEB6|F5H2A9|O76056|Q8WUL0	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.V525I	ENST00000356839.5	37	c.1573	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072058	0.36566	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	D;D	0.87412	-2.25;-2.25	5.42	-0.433	0.12287	.	0.257811	0.37955	N	0.001870	D	0.82701	0.5094	M	0.65320	2	0.54753	D	0.999983	B;B;B	0.19706	0.038;0.038;0.007	B;B;B	0.26969	0.075;0.075;0.006	T	0.72381	-0.4311	10	0.40728	T	0.16	.	9.0302	0.36254	0.2818:0.0:0.7182:0.0	.	548;503;525	F5H2A9;P49748-2;P49748	.;.;ACADV_HUMAN	I	548;571;503;525;571	ENSP00000438689:V548I;ENSP00000344152:V503I	ENSP00000325395:V525I	V	+	1	0	ACADVL	7068404	0.003000	0.15002	0.073000	0.20177	0.009000	0.06853	-0.128000	0.10531	-0.082000	0.12640	0.655000	0.94253	GTC	ACADVL	-	NULL	ENSG00000072778		0.657	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5	-	0	56	0	G	NM_000018		7127680	1	tier1	-	no_errors	ENST00000356839	ensembl	human	known	74_37	missense	11.84	67	9	SNP	0.760	A	A	7127680	G	A	7127680	3	1	18	1	0	0	0	0	1	0	0	0	116	1377	48	3	1635	3	ACADVL	17	7127680	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		7127680	74067530	81	5147											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	35	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	T	T	7578406	C	T	7578406	3	4	18	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	450726	7578406	73616804	82	5148											
MYH13	8735	genome.wustl.edu	37	chr17	10206736	10206736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcatctccttgactttgCgttcgtacttgtgggctccc	5	15	9	12	2	2	1	1	1	1	0	5	1	3	1	2	1	2	3	2	1	2	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:10206736C>T	ENST00000418404.3	-	37	5709	c.5546G>A	c.(5545-5547)cGc>cAc	p.R1849H	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1849H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1849					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTGACTTTGCGTTCGTACTT	0.522																																																	0													154	154	154					17																	10206736		1941	4161	6102	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5546G>A	17.37:g.10206736C>T	ENSP00000404570:p.Arg1849His		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1849H	ENST00000418404.3	37	c.5546	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774774	0.90108	.	.	ENSG00000006788	ENST00000252172	D	0.83673	-1.75	3.92	3.92	0.45320	Myosin tail (1);	.	.	.	.	D	0.93132	0.7813	M	0.93150	3.385	0.40362	D	0.979255	D	0.89917	1.0	D	0.97110	1.0	D	0.95476	0.8556	9	0.87932	D	0	.	16.4927	0.84206	0.0:1.0:0.0:0.0	.	1849	Q9UKX3	MYH13_HUMAN	H	1849	ENSP00000252172:R1849H	ENSP00000252172:R1849H	R	-	2	0	MYH13	10147461	0.755000	0.28372	0.651000	0.29564	0.960000	0.62799	4.733000	0.62036	2.168000	0.68352	0.561000	0.74099	CGC	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.522	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	81	0	C	NM_003802		10206736	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	11.11	96	12	SNP	0.999	T	T	10206736	C	T	10206736	3	4	18	1	0	0	0	0	1	0	0	0	10070	768	27	1	286	1	MYH13	17	10206736	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	2628330	10206736	70988474	83	5149											
SUPT6H	6830	genome.wustl.edu	37	chr17	27002030	27002030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcagatgacgaggacGatgacgaggaggaatatggc	15	6	15	5	3	1	3	1	2	0	1	1	9	1	6	0	4	0	0	0	4	3	1	rs376272646		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:27002030G>T	ENST00000314616.6	+	5	671	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	SUPT6H_ENST00000347486.4_Missense_Mutation_p.D130Y|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	130	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D130Y(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGACGAGGACGATGACGAGGA	0.498																																																	1	Substitution - Missense(1)	lung(1)											92	84	87					17																	27002030		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.388G>T	17.37:g.27002030G>T	ENSP00000319104:p.Asp130Tyr		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D130Y	ENST00000314616.6	37	c.388	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161209	0.57368	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.41	5.41	0.78517	.	0.046129	0.85682	D	0.000000	T	0.74809	0.3765	M	0.65975	2.015	0.80722	D	1	D	0.60575	0.988	P	0.56088	0.791	T	0.77446	-0.2585	9	0.87932	D	0	-24.5167	19.558	0.95361	0.0:0.0:1.0:0.0	.	130	Q7KZ85	SPT6H_HUMAN	Y	130	.	ENSP00000319104:D130Y	D	+	1	0	SUPT6H	24026157	1.000000	0.71417	0.961000	0.40146	0.628000	0.37860	7.049000	0.76613	2.697000	0.92050	0.655000	0.94253	GAT	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	37	0	G	NM_003170		27002030	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T	T	27002030	G	T	27002030	3	4	18	1	0	0	0	0	1	0	0	0	15447	1058	37	2	402	2	SUPT6H	17	27002030	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	16795294	27002030	54193180	84	5150											
TRAF4	9618	genome.wustl.edu	37	chr17	27075971	27075971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccaacagtgccctaaGctggcaatggcacggcatgt	9	9	11	12	1	0	0	0	0	0	0	0	0	0	0	2	3	4	4	2	3	3	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:27075971G>T	ENST00000262395.5	+	7	918	c.789G>T	c.(787-789)aaG>aaT	p.K263N	AC010761.10_ENST00000579468.1_RNA|AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000444415.3_Missense_Mutation_p.K263N|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	263					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGTGCCCTAAGCTGGCAATGG	0.617																																																	0													30	28	29					17																	27075971		2201	4300	6501	SO:0001583	missense	0			X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"RING-type (C3HC4) zinc fingers"	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.789G>T	17.37:g.27075971G>T	ENSP00000262395:p.Lys263Asn		O75615|Q14848|Q2KJU4|Q2PJN8	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.K263N	ENST00000262395.5	37	c.789	CCDS11243.1	17	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475367	0.26511	.	.	ENSG00000076604	ENST00000262395;ENST00000444415	T;T	0.31247	1.5;1.5	5.62	3.65	0.41850	Zinc finger, TRAF-type (1);TRAF-like (1);	0.098618	0.64402	D	0.000001	T	0.24624	0.0597	L	0.42632	1.34	0.80722	D	1	P	0.43231	0.801	B	0.37780	0.258	T	0.01961	-1.1239	10	0.42905	T	0.14	.	11.0391	0.47820	0.1482:0.0:0.8518:0.0	.	263	Q9BUZ4	TRAF4_HUMAN	N	263	ENSP00000262395:K263N;ENSP00000438154:K263N	ENSP00000262395:K263N	K	+	3	2	TRAF4	24100098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.382000	0.52463	0.733000	0.32492	0.655000	0.94253	AAG	TRAF4	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF	ENSG00000076604		0.617	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF4	HGNC	protein_coding	OTTHUMT00000255944.2	-	0	46	0	G	NM_145751		27075971	1	tier1	-	no_errors	ENST00000262395	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	27075971	G	T	27075971	3	4	18	1	0	0	0	0	1	0	0	0	16491	962	34	3	815	3	TRAF4	17	27075971	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	73941	27075971	54119239	85	5151											
FLOT2	2319	genome.wustl.edu	37	chr17	27209414	27209414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcatctctctgcaccaCggcagtctgcgtcttgccca	6	10	9	16	2	5	0	1	0	4	0	6	0	5	0	2	1	4	3	2	1	0	1	rs376860005		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:27209414C>T	ENST00000394908.4	-	6	624	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	FLOT2_ENST00000585169.1_Missense_Mutation_p.V174M|FLOT2_ENST00000394906.2_Missense_Mutation_p.V229M|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	174					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTCTGCACCACGGCAGTCTGC	0.602																																																	0													51	54	53					17																	27209414		2202	4294	6496	SO:0001583	missense	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.520G>A	17.37:g.27209414C>T	ENSP00000378368:p.Val174Met			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.V174M	ENST00000394908.4	37	c.520	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	15.28	2.788191	0.49997	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	D;D	0.93076	-3.16;-3.16	5.44	4.41	0.53225	.	0.166809	0.52532	D	0.000069	D	0.88179	0.6367	N	0.19112	0.55	0.33158	D	0.546633	B	0.23854	0.092	B	0.22880	0.042	D	0.88549	0.3115	10	0.49607	T	0.09	-22.3657	16.9695	0.86295	0.0:0.8615:0.1385:0.0	.	174	Q14254	FLOT2_HUMAN	M	229;174	ENSP00000378366:V229M;ENSP00000378368:V174M	ENSP00000378366:V229M	V	-	1	0	FLOT2	24233540	0.999000	0.42202	0.965000	0.40720	0.359000	0.29487	3.998000	0.57024	2.578000	0.87016	0.313000	0.20887	GTG	FLOT2	-	pfam_Band_7,smart_Band_7	ENSG00000132589		0.602	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	-	0	92	0	C	NM_004475		27209414	-1	tier1	-	no_errors	ENST00000394908	ensembl	human	known	74_37	missense	10.00	72	8	SNP	0.894	T	T	27209414	C	T	27209414	3	4	18	1	0	0	0	0	1	0	0	0	5959	536	19	1	790	1	FLOT2	17	27209414	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	133443	27209414	53985796	86	5152											
CDK5R1	8851	genome.wustl.edu	37	chr17	30815527	30815527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaacgagagcggccaggagGacaagaagcggctcctccta	13	3	14	11	3	0	3	0	0	0	3	2	6	2	5	3	4	3	1	3	4	4	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:30815527G>T	ENST00000313401.3	+	2	1578	c.889G>T	c.(889-891)Gac>Tac	p.D297Y		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	297					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGGCCAGGAGGACAAGAAGCG	0.483																																																	0													56	60	58					17																	30815527		2203	4300	6503	SO:0001583	missense	0			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.889G>T	17.37:g.30815527G>T	ENSP00000318486:p.Asp297Tyr		E1P664|Q5U0G3	Missense_Mutation	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.D297Y	ENST00000313401.3	37	c.889	CCDS11273.1	17	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376658	0.61735	.	.	ENSG00000176749	ENST00000313401	T	0.79141	-1.24	5.55	5.55	0.83447	Cyclin-like (1);	0.057360	0.64402	D	0.000002	D	0.82499	0.5050	L	0.34521	1.04	0.58432	D	0.999997	D;P	0.89917	1.0;0.742	D;B	0.68192	0.956;0.367	D	0.84338	0.0525	10	0.87932	D	0	-8.9213	16.9953	0.86366	0.0:0.0:1.0:0.0	.	297;297	Q8N619;Q15078	.;CD5R1_HUMAN	Y	297	ENSP00000318486:D297Y	ENSP00000318486:D297Y	D	+	1	0	CDK5R1	27839640	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.804000	0.99143	2.609000	0.88269	0.557000	0.71058	GAC	CDK5R1	-	pirsf_CDK5_activator	ENSG00000176749		0.483	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	HGNC	protein_coding	OTTHUMT00000256264.1	-	0	50	0	G	NM_003885		30815527	1	tier1	-	no_errors	ENST00000313401	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	T	T	30815527	G	T	30815527	3	4	18	1	0	0	0	0	1	0	0	0	3150	1174	41	3	891	3	CDK5R1	17	30815527	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	3606113	30815527	50379683	87	5153			2	6		2	2	12	G		3.979671e-05
CDK5R1	8851	genome.wustl.edu	37	chr17	30815538	30815538	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccaggaggacaagaagcgGctcctcctaggcctggatcg	9	5	15	12	2	0	1	0	0	0	1	3	4	2	4	4	6	1	1	4	6	3	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:30815538G>T	ENST00000313401.3	+	2	1589	c.900G>T	c.(898-900)cgG>cgT	p.R300R		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	300					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			ACAAGAAGCGGCTCCTCCTAG	0.478																																																	0													52	55	54					17																	30815538		2203	4300	6503	SO:0001819	synonymous_variant	0			X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.900G>T	17.37:g.30815538G>T			E1P664|Q5U0G3	Silent	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.R300	ENST00000313401.3	37	c.900	CCDS11273.1	17																																																																																			CDK5R1	-	pirsf_CDK5_activator	ENSG00000176749		0.478	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	HGNC	protein_coding	OTTHUMT00000256264.1		0	55	0	G	NM_003885		30815538	1			no_errors	ENST00000313401	ensembl	human	known	74_37	silent	5.56	51	3	SNP	1.000	T	T	30815538	G	T	30815538	2	4	18	1	0	0	0	0	0	0	0	1	3150	1190	42	3		3	CDK5R1	17	30815538	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	11	30815538	50379672	88	5154			2	6		2	2	12	G		3.979671e-05
KRT25	147183	genome.wustl.edu	37	chr17	38910113	38910113	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacgaccagctcttaccTctttatggttctttttgagg	7	16	9	9	1	3	2	0	1	3	1	3	3	3	2	2	2	2	3	2	2	3	7			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:38910113T>A	ENST00000312150.4	-	3	728	c.668A>T	c.(667-669)gAg>gTg	p.E223V		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCTCTTACCTCTTTATGGTT	0.428																																																	0													165	163	163					17																	38910113		2203	4300	6503	SO:0001630	splice_region_variant	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.669+1A>T	17.37:g.38910113T>A				Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.E223V	ENST00000312150.4	37	c.668	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	T	27.9	4.876033	0.91664	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.91124	-2.79	5.92	5.92	0.95590	Filament (1);	0.000000	0.64402	D	0.000003	D	0.97383	0.9144	H	0.98333	4.205	0.58432	D	0.999998	D	0.76494	0.999	D	0.78314	0.991	D	0.98968	1.0800	10	0.87932	D	0	.	16.3495	0.83197	0.0:0.0:0.0:1.0	.	223	Q7Z3Z0	K1C25_HUMAN	V	223	ENSP00000310573:E223V	ENSP00000310573:E223V	E	-	2	0	KRT25	36163639	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.843000	0.62838	2.261000	0.74972	0.482000	0.46254	GAG	KRT25	-	pfam_IF	ENSG00000204897		0.428	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	-	0	74	0	T	NM_181534	Missense_Mutation	38910113	-1	tier1	-	no_errors	ENST00000312150	ensembl	human	known	74_37	missense	13.98	80	13	SNP	1.000	A	A	38910113	T	A	38910113	5	1	18	1	0	0	0	0	0	0	1	0	8489	1565	54	5	708	5	KRT25	17	38910113	Splice_Site	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	8094575	38910113	42285097	89	5155											
KRT34	3885	genome.wustl.edu	37	chr17	39538436	39538436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtggcagctggggggcacGcagggccgggaggagcagct	6	3	21	11	3	0	0	0	0	0	0	0	2	0	2	2	7	3	6	2	7	0	0	rs374587752		TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:39538436G>A	ENST00000394001.1	-	1	219	c.189C>T	c.(187-189)tgC>tgT	p.C63C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	63	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGGGGGGCACGCAGGGCCGGG	0.617																																																	0								G		0,4406		0,0,2203	50	49	50		189	-3.1	0.3	17		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT34	NM_021013.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		63/437	39538436	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.189C>T	17.37:g.39538436G>A			Q8IUT8|Q8N4W2	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.C63	ENST00000394001.1	37	c.189	CCDS11390.1	17																																																																																			KRT34	-	NULL	ENSG00000131737		0.617	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	-	0	121	0	G	NM_021013		39538436	-1	tier1	-	no_errors	ENST00000394001	ensembl	human	known	74_37	silent	10.60	134	16	SNP	0.241	A	A	39538436	G	A	39538436	2	1	18	1	0	0	0	0	0	0	0	1	8498	1079	38	1		1	KRT34	17	39538436	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	628323	39538436	41656774	90	5156											
INTS2	57508	genome.wustl.edu	37	chr17	59958373	59958373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatttactataccttctTggagttgtttgggagaatga	12	16	9	4	0	1	2	0	1	1	1	1	4	1	3	1	2	2	2	1	2	6	9			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:59958373T>C	ENST00000444766.3	-	17	2348	c.2273A>G	c.(2272-2274)cAa>cGa	p.Q758R	INTS2_ENST00000251334.6_Missense_Mutation_p.Q750R	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	758					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TATACCTTCTTGGAGTTGTTT	0.378																																																	0													91	86	88					17																	59958373		1844	4085	5929	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2273A>G	17.37:g.59958373T>C	ENSP00000414237:p.Gln758Arg		Q9ULD3	Missense_Mutation	SNP	NULL	p.Q758R	ENST00000444766.3	37	c.2273	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577559	0.28180	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.42513	0.97	5.63	5.63	0.86233	.	0.100814	0.64402	D	0.000001	T	0.24122	0.0584	N	0.08118	0	0.48511	D	0.999665	B	0.06786	0.001	B	0.09377	0.004	T	0.10154	-1.0642	9	.	.	.	-9.7706	15.0037	0.71495	0.0:0.0:0.0:1.0	.	758	Q9H0H0	INT2_HUMAN	R	758;757	ENSP00000414237:Q758R	.	Q	-	2	0	INTS2	57313155	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.416000	0.66417	2.129000	0.65627	0.455000	0.32223	CAA	INTS2	-	NULL	ENSG00000108506		0.378	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1		0	39	0	T	NM_020748		59958373	-1			no_errors	ENST00000444766	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	C	C	59958373	T	C	59958373	3	2	18	1	0	0	0	0	1	0	0	0	7805	1812	63	4	1377	4	INTS2	17	59958373	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	20419937	59958373	21236837	91	5157											
GALR2	8811	genome.wustl.edu	37	chr17	74071023	74071023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggcgggcggcgggggagGctggcaccccgaggcggtca	5	2	21	13	5	1	0	1	0	0	0	1	2	1	1	3	9	0	2	3	9	0	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr17:74071023G>A	ENST00000329003.3	+	1	149	c.59G>A	c.(58-60)gGc>gAc	p.G20D	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	20					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCGGGGGAGGCTGGCACCCC	0.746																																																	0													18	14	15					17																	74071023		2182	4252	6434	SO:0001583	missense	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.59G>A	17.37:g.74071023G>A	ENSP00000329684:p.Gly20Asp		A5JUU4|Q32MN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt	p.G20D	ENST00000329003.3	37	c.59	CCDS11739.1	17	.	.	.	.	.	.	.	.	.	.	G	14.50	2.555070	0.45487	.	.	ENSG00000182687	ENST00000329003	T	0.69685	-0.42	4.0	3.0	0.34707	.	1.403810	0.05102	N	0.487312	T	0.49253	0.1546	N	0.14661	0.345	0.31632	N	0.648925	P	0.47106	0.89	B	0.38378	0.272	T	0.43376	-0.9395	10	0.11182	T	0.66	.	13.4198	0.60989	0.0:0.1595:0.8405:0.0	.	20	O43603	GALR2_HUMAN	D	20	ENSP00000329684:G20D	ENSP00000329684:G20D	G	+	2	0	GALR2	71582618	1.000000	0.71417	0.551000	0.28230	0.527000	0.34593	2.849000	0.48286	1.000000	0.39049	0.313000	0.20887	GGC	GALR2	-	NULL	ENSG00000182687		0.746	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	-	0	39	0	G			74071023	1	tier1	-	no_errors	ENST00000329003	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.996	A	A	74071023	G	A	74071023	3	1	18	1	0	0	0	0	1	0	0	0	6253	1203	42	3	61	3	GALR2	17	74071023	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	14112650	74071023	7124187	92	5158											
RBBP8	5932	genome.wustl.edu	37	chr18	20596862	20596862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagaagaaaactgcttgGgcacacgtgtaaggaatgtg	14	7	15	5	1	0	2	0	0	0	2	0	5	0	4	0	3	2	3	0	3	5	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr18:20596862G>T	ENST00000399722.2	+	17	2780	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V	RBBP8_ENST00000327155.5_Missense_Mutation_p.G810V|RBBP8_ENST00000360790.5_Missense_Mutation_p.G815V|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000399725.2_Intron	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	810					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.G810V(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAACTGCTTGGGCACACGTGT	0.318								Homologous recombination																																									1	Substitution - Missense(1)	endometrium(1)											107	109	108					18																	20596862		2203	4300	6503	SO:0001583	missense	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2429G>T	18.37:g.20596862G>T	ENSP00000382628:p.Gly810Val		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.G810V	ENST00000399722.2	37	c.2429	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093801	0.76870	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.63096	-0.02;-0.02;-0.01	5.33	4.46	0.54185	.	0.110694	0.64402	D	0.000008	T	0.80783	0.4689	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84031	0.0359	10	0.87932	D	0	-7.3178	13.0342	0.58860	0.0777:0.0:0.9223:0.0	.	815;810	E7ETY1;Q99708	.;COM1_HUMAN	V	810;810;815	ENSP00000323050:G810V;ENSP00000382628:G810V;ENSP00000354024:G815V	ENSP00000323050:G810V	G	+	2	0	RBBP8	18850860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	1.253000	0.44018	0.637000	0.83480	GGG	RBBP8	-	pfam_DNA-repair_Sae2/CtIP	ENSG00000101773		0.318	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	-	0	40	0	G	NM_203291		20596862	1	tier1	-	no_errors	ENST00000327155	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	T	T	20596862	G	T	20596862	3	4	18	1	0	0	0	0	1	0	0	0	13150	1232	43	3	2491	3	RBBP8	18	20596862	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		20596862	57480386	93	5159											
SERPINB11	89778	genome.wustl.edu	37	chr18	61377507	61377507	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaacaacataggagataAcatcttcttttcttcgctga	13	13	6	9	1	3	2	0	1	3	1	4	3	3	2	0	1	3	2	0	1	4	7			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr18:61377507A>C	ENST00000382749.5	+	0	325				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				ATAGGAGATAACATCTTCTTT	0.448																																					Ovarian(27;496 784 5942 8975 23930)												0													126	117	120					18																	61377507		1925	4151	6076			0					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61377507A>C			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.N27T	ENST00000382749.5	37	c.80		18	.	.	.	.	.	.	.	.	.	.	A	16.14	3.039561	0.55003	.	.	ENSG00000206072	ENST00000544088;ENST00000538847	D;D	0.91894	-2.93;-2.93	5.14	5.14	0.70334	Serpin domain (3);	0.000000	0.53938	D	0.000043	D	0.97093	0.9050	H	0.95043	3.615	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.991;0.997	D	0.98021	1.0371	10	0.87932	D	0	.	13.1919	0.59715	1.0:0.0:0.0:0.0	.	27;27	F5GY69;Q96P15	.;SPB11_HUMAN	T	27	ENSP00000441497:N27T;ENSP00000440795:N27T	ENSP00000421854:N27T	N	+	2	0	SERPINB11	59528487	0.999000	0.42202	0.943000	0.38184	0.362000	0.29581	6.068000	0.71201	2.051000	0.60960	0.533000	0.62120	AAC	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206072		0.448	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3		0	51	0	A	NM_080475		61377507	1			no_errors	ENST00000538847	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.975	C	C	61377507	A	C	61377507	1	2	18	0	1	0	0	0	0	0	0	0	14143	43	2	4		4	SERPINB11	18	61377507	RNA	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09	40780645	61377507	16699741	94	5160											
LSM7	51690	genome.wustl.edu	37	chr19	2328428	2328429	+	Nonsense_Mutation	DNP	TG	TG	AT																															tacccggatcgtcttgtcgaTgtacttggacaagtccaaga																										TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr19:2328428_2328429TG>AT	ENST00000252622.10	-	2	107_108	c.54_55CA>AT	c.(52-57)taCAtc>taATtc	p.18_19YI>*F	SPPL2B_ENST00000452401.2_RNA|AC004410.3_ENST00000586111.2_RNA	NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)	18					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|spliceosomal complex (GO:0005681)	U6 snRNA binding (GO:0017070)			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTTGTCGATGTACTTGGACA	0.55																																																	0																																										SO:0001587	stop_gained	0			AF182293	CCDS45907.1	19p13.3	2008-05-02			ENSG00000130332	ENSG00000130332			20470	protein-coding gene	gene with protein product		607287				10523320, 12515382	Standard	NM_016199		Approved	YNL147W	uc002lvp.4	Q9UK45		ENST00000252622.10:c.54_55delinsAT	19.37:g.2328428_2328429delinsAT	ENSP00000252622:p.Y18_I19delins*F			Missense_Mutation|Nonsense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_U6_snRNA_Lsm7	p.I19F|p.Y18*	ENST00000252622.10	37	c.55|c.54	CCDS45907.1	19																																																																																			LSM7	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_U6_snRNA_Lsm7	ENSG00000130332		0.55	LSM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM7	HGNC	protein_coding	OTTHUMT00000451375.2	-	0	61|62	0	T|G			2328428|2328429	-1	tier1	-	no_errors	ENST00000252622	ensembl	human	known	74_37	missense|nonsense	16.00	42	8	SNP	1.000	A|T	AT	2328429	TG	AT	2328428	4	1	18	1	0	0	0	0	0	1	0	0	9096	1464	51	5	268	5	LSM7	19	2328428	Nonsense_Mutation	DNP	TG	TCGA-IG-A3YA-01A-11D-A247-09		2328428	56800555	95	5161											
PRAM1	84106	genome.wustl.edu	37	chr19	8563824	8563824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcctggtgaggtccccaaGctcaggctgcggaggcttct	5	9	15	12	1	2	1	1	1	1	0	4	2	4	2	3	6	2	3	3	6	1	1			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr19:8563824G>T	ENST00000423345.4	-	2	1388	c.868C>A	c.(868-870)Ctt>Att	p.L290I	PRAM1_ENST00000255612.3_Missense_Mutation_p.L290I			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	338	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGGTCCCCAAGCTCAGGCTGC	0.647																																																	0													28	31	30					19																	8563824		2192	4297	6489	SO:0001583	missense	0			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.868C>A	19.37:g.8563824G>T	ENSP00000408342:p.Leu290Ile		Q8N6W7	Missense_Mutation	SNP	superfamily_SH3_domain	p.L290I	ENST00000423345.4	37	c.868	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	G	7.309	0.614623	0.14129	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14391	2.51;2.51	4.12	-2.13	0.07144	.	1.312210	0.05361	N	0.533604	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B;B	0.30236	0.228;0.274	B;B	0.30179	0.083;0.112	T	0.38520	-0.9657	10	0.20046	T	0.44	.	5.8605	0.18745	0.4483:0.147:0.4047:0.0	.	290;338	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	I	290	ENSP00000255612:L290I;ENSP00000408342:L290I	ENSP00000255612:L290I	L	-	1	0	PRAM1	8469824	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.653000	0.05360	-0.501000	0.06605	-1.099000	0.02127	CTT	PRAM1	-	NULL	ENSG00000133246		0.647	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	-	0	39	0	G	NM_032152		8563824	-1	tier1	-	no_errors	ENST00000423345	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.000	T	T	8563824	G	T	8563824	3	4	18	1	0	0	0	0	1	0	0	0	12465	971	34	3	1177	3	PRAM1	19	8563824	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	6235396	8563824	50565159	96	5162											
ZNF536	9745	genome.wustl.edu	37	chr19	30936232	30936232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggttcacagcactaaagTgggcagccagagagacctgc	11	8	12	10	0	1	2	1	0	0	2	1	3	1	2	2	2	3	3	2	2	2	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr19:30936232T>C	ENST00000355537.3	+	2	1910	c.1763T>C	c.(1762-1764)gTg>gCg	p.V588A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	588					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCACTAAAGTGGGCAGCCAG	0.517																																																	0													79	83	82					19																	30936232		2203	4300	6503	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1763T>C	19.37:g.30936232T>C	ENSP00000347730:p.Val588Ala		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V588A	ENST00000355537.3	37	c.1763	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	T	0	-2.604704	0.00123	.	.	ENSG00000198597	ENST00000355537	T	0.39997	1.05	5.53	2.29	0.28610	.	0.248135	0.41294	N	0.000920	T	0.21921	0.0528	N	0.08118	0	0.34321	D	0.686585	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.10474	-1.0628	10	0.54805	T	0.06	-20.2463	9.4449	0.38690	0.0:0.2048:0.0:0.7952	.	588;588	A7E228;O15090	.;ZN536_HUMAN	A	588	ENSP00000347730:V588A	ENSP00000347730:V588A	V	+	2	0	ZNF536	35628072	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	2.442000	0.44873	0.062000	0.16340	-0.256000	0.11100	GTG	ZNF536	-	NULL	ENSG00000198597		0.517	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	53	0	T	NM_014717		30936232	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	C	C	30936232	T	C	30936232	3	2	18	1	0	0	0	0	1	0	0	0	18022	1696	59	4	1765	4	ZNF536	19	30936232	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	22372408	30936232	28192751	97	5163											
ZFP14	57677	genome.wustl.edu	37	chr19	36832184	36832184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaagtgttgagcgacgaaTaaaggtcttcctacactcct	12	11	8	10	2	1	1	0	1	1	0	3	3	3	1	2	1	2	1	2	1	5	5			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr19:36832184T>C	ENST00000270001.7	-	5	659	c.544A>G	c.(544-546)Att>Gtt	p.I182V		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					GAGCGACGAATAAAGGTCTTC	0.403																																																	0													159	152	155					19																	36832184		2203	4300	6503	SO:0001583	missense	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.544A>G	19.37:g.36832184T>C	ENSP00000270001:p.Ile182Val		A7MD23	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I182V	ENST00000270001.7	37	c.544	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	t	8.999	0.979680	0.18812	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.36699	1.24	3.85	3.85	0.44370	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000306	T	0.20251	0.0487	N	0.20530	0.585	0.80722	D	1	P;B	0.35894	0.526;0.237	B;B	0.34301	0.179;0.119	T	0.04294	-1.0962	10	0.30078	T	0.28	.	7.4912	0.27462	0.0:0.1059:0.0:0.8941	.	182;182	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	V	182	ENSP00000270001:I182V	ENSP00000270001:I182V	I	-	1	0	ZFP14	41524024	0.963000	0.33076	1.000000	0.80357	0.958000	0.62258	1.740000	0.38228	1.737000	0.51674	0.448000	0.29417	ATT	ZFP14	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000142065		0.403	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	-	0	43	0	T	NM_020917		36832184	-1	tier1	-	no_errors	ENST00000270001	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.888	C	C	36832184	T	C	36832184	3	2	18	1	0	0	0	0	1	0	0	0	17687	1406	49	4	1061	4	ZFP14	19	36832184	Missense_Mutation	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	5895952	36832184	22296799	98	5164											
TEX101	83639	genome.wustl.edu	37	chr19	43920355	43920355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggagacttgtgacaaaGgggcactttgccaggaaacc	13	7	13	8	0	0	2	0	1	0	1	0	4	0	3	2	4	2	1	2	4	3	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr19:43920355G>T	ENST00000598265.1	+	3	335	c.169G>T	c.(169-171)Ggg>Tgg	p.G57W	TEX101_ENST00000602198.1_Missense_Mutation_p.G75W|TEX101_ENST00000253435.7_Missense_Mutation_p.G75W|TEX101_ENST00000601707.1_3'UTR	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	57						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TTGTGACAAAGGGGCACTTTG	0.468																																																	0													86	81	82					19																	43920355		2203	4300	6503	SO:0001583	missense	0			AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.169G>T	19.37:g.43920355G>T	ENSP00000472769:p.Gly57Trp		Q7L5R2|Q9BPY7	Missense_Mutation	SNP	pfam_LY6_UPAR	p.G75W	ENST00000598265.1	37	c.223	CCDS59393.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164036	0.38217	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.72051	-0.62	4.12	2.01	0.26516	.	0.497505	0.19024	N	0.124722	T	0.80025	0.4548	M	0.77313	2.365	0.09310	N	1	D;D	0.65815	0.992;0.995	D;D	0.71870	0.945;0.975	T	0.67546	-0.5643	10	0.87932	D	0	-1.2608	6.3289	0.21259	0.2224:0.0:0.7776:0.0	.	57;75	Q9BY14;Q9BY14-2	TX101_HUMAN;.	W	75;70	ENSP00000253435:G75W	ENSP00000253435:G75W	G	+	1	0	TEX101	48612195	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.583000	0.23849	0.694000	0.31654	0.561000	0.74099	GGG	TEX101	-	NULL	ENSG00000131126		0.468	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	TEX101	HGNC	protein_coding	OTTHUMT00000463176.1	-	0	50	0	G	NM_031451		43920355	1	tier1	-	no_errors	ENST00000253435	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.001	T	T	43920355	G	T	43920355	3	4	18	1	0	0	0	0	1	0	0	0	15820	1000	35	3	233	3	TEX101	19	43920355	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	7088171	43920355	15208628	99	5165											
ZNF222	7673	genome.wustl.edu	37	chr19	44537041	44537041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagactgtggaaagaGgcttgtatgccggtcatact	11	11	13	6	1	1	3	1	1	0	2	1	4	1	4	1	3	2	2	1	3	4	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr19:44537041G>C	ENST00000187879.8	+	4	1376	c.1214G>C	c.(1213-1215)aGg>aCg	p.R405T	ZNF222_ENST00000391960.3_Missense_Mutation_p.R445T|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGTGGAAAGAGGCTTGTATGC	0.448																																																	0													96	97	97					19																	44537041		2203	4300	6503	SO:0001583	missense	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.1214G>C	19.37:g.44537041G>C	ENSP00000187879:p.Arg405Thr		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R445T	ENST00000187879.8	37	c.1334	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	G	0.799	-0.756204	0.03019	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.07327	3.2;3.2	2.71	-5.41	0.02648	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02970	0.0088	N	0.02960	-0.455	0.09310	N	1	P;P	0.37548	0.58;0.599	B;B	0.42245	0.381;0.15	T	0.35649	-0.9780	9	0.25751	T	0.34	.	2.0669	0.03605	0.1987:0.2683:0.3974:0.1357	.	445;405	G5E9B9;Q9UK12	.;ZN222_HUMAN	T	445;405;351	ENSP00000375822:R445T;ENSP00000187879:R405T	ENSP00000187879:R405T	R	+	2	0	ZNF222	49228881	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	0.280000	0.18790	-0.834000	0.04239	0.205000	0.17691	AGG	ZNF222	-	pfscan_Znf_C2H2	ENSG00000159885		0.448	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2		0	30	0	G			44537041	1			no_errors	ENST00000391960	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.000	C	C	44537041	G	C	44537041	3	2	18	1	0	0	0	0	1	0	0	0	17824	1000	35	5	1367	5	ZNF222	19	44537041	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	616686	44537041	14591942	100	5166											
ProSAPiP1	9762	genome.wustl.edu	37	chr20	3146868	3146868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtccgagacttgtccaGtccgcctttgaggccaccag	7	9	11	14	2	0	2	0	1	0	1	3	3	3	2	6	2	0	0	6	2	0	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr20:3146868G>T	ENST00000329152.3	-	2	1995	c.598C>A	c.(598-600)Ctg>Atg	p.L200M	LZTS3_ENST00000360342.3_Missense_Mutation_p.L200M|LZTS3_ENST00000337576.5_Missense_Mutation_p.L200M			O60299	LZTS3_HUMAN		200						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GACTTGTCCAGTCCGCCTTTG	0.617																																																	0													54	48	50					20																	3146868		2203	4300	6503	SO:0001583	missense	0																														ENST00000329152.3:c.598C>A	20.37:g.3146868G>T	ENSP00000332123:p.Leu200Met		A2A2Q7|D3DVX6|Q8IXX8	Missense_Mutation	SNP	NULL	p.L200M	ENST00000329152.3	37	c.598	CCDS13049.1	20	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869307	0.72065	.	.	ENSG00000088899	ENST00000329152;ENST00000360342;ENST00000337576	T;T;T	0.36157	1.27;1.3;1.3	5.26	5.26	0.73747	.	0.440915	0.23224	N	0.050527	T	0.48995	0.1531	L	0.43152	1.355	0.44918	D	0.997931	D;D	0.64830	0.994;0.989	P;P	0.56865	0.808;0.648	T	0.42378	-0.9455	10	0.46703	T	0.11	-11.6956	18.8648	0.92287	0.0:0.0:1.0:0.0	.	200;200	O60299-2;O60299	.;PRIP1_HUMAN	M	200	ENSP00000332123:L200M;ENSP00000353496:L200M;ENSP00000338166:L200M	ENSP00000332123:L200M	L	-	1	2	RP5-1187M17.10	3094868	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.350000	0.59392	2.450000	0.82876	0.561000	0.74099	CTG	LZTS3	-	NULL	ENSG00000088899		0.617	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS3	Uniprot_gn	protein_coding	OTTHUMT00000077715.2	-	0	91	0	G			3146868	-1	tier1	-	no_errors	ENST00000329152	ensembl	human	known	74_37	missense	21.21	78	21	SNP	1.000	T	T	3146868	G	T	3146868	3	4	18	1	0	0	0	0	1	0	0	0	12915	1020	36	3	1431	3	ProSAPiP1	20	3146868	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		3146868	59878652	101	5167											
CSTL1	128817	genome.wustl.edu	37	chr20	23425499	23425499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggaggccgagcatgtggGcagaaacctcagatgagggc	10	6	16	9	1	2	3	1	1	1	2	2	5	2	4	2	4	2	2	2	4	1	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr20:23425499G>T	ENST00000246020.2	+	3	442	c.422G>T	c.(421-423)gGc>gTc	p.G141V	CSTL1_ENST00000347397.1_Missense_Mutation_p.G141V			Q9H114	CST1L_HUMAN	cystatin-like 1	141						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GAGCATGTGGGCAGAAACCTC	0.443																																																	0													77	73	75					20																	23425499		2203	4300	6503	SO:0001583	missense	0			AL096677	CCDS13153.1	20p11.21	2012-08-14			ENSG00000125823	ENSG00000125823			15958	protein-coding gene	gene with protein product						20565543	Standard	NM_138283		Approved	dJ322G13.4, CTES1	uc002wte.3	Q9H114	OTTHUMG00000032068	ENST00000246020.2:c.422G>T	20.37:g.23425499G>T	ENSP00000246020:p.Gly141Val		Q17RA8|Q64FF7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.G141V	ENST00000246020.2	37	c.422	CCDS13153.1	20	.	.	.	.	.	.	.	.	.	.	G	9.068	0.996105	0.19043	.	.	ENSG00000125823	ENST00000347397;ENST00000246020	T;T	0.10192	2.9;2.9	3.78	2.81	0.32909	.	1.495720	0.04527	N	0.385739	T	0.07052	0.0179	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.26155	-1.0111	10	0.62326	D	0.03	.	7.6576	0.28383	0.1172:0.0:0.8828:0.0	.	141	Q9H114	CST1L_HUMAN	V	141	ENSP00000344907:G141V;ENSP00000246020:G141V	ENSP00000246020:G141V	G	+	2	0	CSTL1	23373499	0.007000	0.16637	0.001000	0.08648	0.003000	0.03518	1.822000	0.39052	1.149000	0.42402	0.561000	0.74099	GGC	CSTL1	-	NULL	ENSG00000125823		0.443	CSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTL1	HGNC	protein_coding	OTTHUMT00000078328.1	-	0	36	0	G			23425499	1	tier1	-	no_errors	ENST00000246020	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.002	T	T	23425499	G	T	23425499	3	4	18	1	0	0	0	0	1	0	0	0	3996	1203	42	3	432	3	CSTL1	20	23425499	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	20278631	23425499	39600021	102	5168											
TOMM34	10953	genome.wustl.edu	37	chr20	43571821	43571821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaggctcaatctgtaggaGgttgctgatgtctgcaaagc	9	11	12	9	0	3	1	1	1	2	0	3	2	3	2	1	3	3	5	1	3	4	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr20:43571821G>A	ENST00000372813.3	-	7	1011	c.859C>T	c.(859-861)Ctc>Ttc	p.L287F	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	287					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				ATCTGTAGGAGGTTGCTGATG	0.522																																																	0													109	102	105					20																	43571821		2203	4300	6503	SO:0001583	missense	0			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.859C>T	20.37:g.43571821G>A	ENSP00000361900:p.Leu287Phe		Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L287F	ENST00000372813.3	37	c.859	CCDS13340.1	20	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812419	0.70912	.	.	ENSG00000025772	ENST00000372813	T	0.74737	-0.87	5.34	5.34	0.76211	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.074328	0.53938	D	0.000059	D	0.86932	0.6052	M	0.88450	2.955	0.42689	D	0.993572	D	0.89917	1.0	D	0.80764	0.994	D	0.88204	0.2886	10	0.59425	D	0.04	-25.9804	11.6541	0.51306	0.0832:0.0:0.9168:0.0	.	287	Q15785	TOM34_HUMAN	F	287	ENSP00000361900:L287F	ENSP00000361900:L287F	L	-	1	0	TOMM34	43005235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.202000	0.42743	2.761000	0.94854	0.655000	0.94253	CTC	TOMM34	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000025772		0.522	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	-	0	59	0	G	NM_006809		43571821	-1	tier1	-	no_errors	ENST00000372813	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	A	A	43571821	G	A	43571821	3	1	18	1	0	0	0	0	1	0	0	0	16404	1000	35	3	74	3	TOMM34	20	43571821	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	20146322	43571821	19453699	103	5169											
ZNF831	128611	genome.wustl.edu	37	chr20	57829715	57829715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccctcaagaagaggagtCtggaaggaatgagaaagcaa	18	5	12	6	0	2	3	1	1	1	3	3	7	3	6	1	3	1	1	1	3	7	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr20:57829715C>A	ENST00000371030.2	+	5	4951	c.4951C>A	c.(4951-4953)Ctg>Atg	p.L1651M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1651							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GAAGAGGAGTCTGGAAGGAAT	0.438																																																	0													60	58	59					20																	57829715		1878	4112	5990	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4951C>A	20.37:g.57829715C>A	ENSP00000360069:p.Leu1651Met		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1651M	ENST00000371030.2	37	c.4951	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496343	0.64186	.	.	ENSG00000124203	ENST00000371030	T	0.17528	2.27	5.66	-4.42	0.03579	.	0.000000	0.41097	D	0.000945	T	0.33411	0.0862	M	0.66939	2.045	0.24988	N	0.991554	D	0.89917	1.0	D	0.91635	0.999	T	0.17349	-1.0372	10	0.87932	D	0	-11.2611	13.4977	0.61436	0.0:0.6114:0.0:0.3886	.	1651	Q5JPB2	ZN831_HUMAN	M	1651	ENSP00000360069:L1651M	ENSP00000360069:L1651M	L	+	1	2	ZNF831	57263110	0.941000	0.31946	0.833000	0.33012	0.973000	0.67179	0.088000	0.14979	-0.805000	0.04404	-0.312000	0.09012	CTG	ZNF831	-	NULL	ENSG00000124203		0.438	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	20	0	C	NM_178457		57829715	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	30.00	7	3	SNP	0.554	A	A	57829715	C	A	57829715	3	1	18	1	0	0	0	0	1	0	0	0	18233	912	32	3	4969	3	ZNF831	20	57829715	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	14257894	57829715	5195805	104	5170											
DIP2A	23181	genome.wustl.edu	37	chr21	47957436	47957436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactctcctggatccagaaAgtgtgcttctataaaggtaa	12	11	8	10	0	2	1	0	0	2	1	4	2	3	2	3	2	1	2	3	2	5	4			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chr21:47957436A>T	ENST00000417564.2	+	15	1806	c.1785A>T	c.(1783-1785)aaA>aaT	p.K595N	DIP2A_ENST00000427143.2_Missense_Mutation_p.K531N|DIP2A_ENST00000466639.1_Missense_Mutation_p.K552N|Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000435722.3_Missense_Mutation_p.K595N|DIP2A_ENST00000400274.1_Missense_Mutation_p.K591N|DIP2A_ENST00000318711.7_Missense_Mutation_p.K596N|DIP2A_ENST00000457905.3_Missense_Mutation_p.K595N			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	595					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGATCCAGAAAGTGTGCTTCT	0.493																																																	0													92	96	95					21																	47957436		2197	4300	6497	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"chromosome 21 open reading frame 106"	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1785A>T	21.37:g.47957436A>T	ENSP00000392066:p.Lys595Asn		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.K596N	ENST00000417564.2	37	c.1788	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788876	0.70337	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.10382	2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.44	3.0	0.34707	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.23289	0.0563	M	0.61703	1.905	0.58432	D	0.999999	P;B;D;D;B;B	0.89917	0.741;0.261;1.0;0.958;0.393;0.244	P;B;D;D;B;B	0.87578	0.568;0.243;0.998;0.924;0.406;0.264	T	0.02736	-1.1117	10	0.25751	T	0.34	-6.7106	6.9842	0.24719	0.7943:0.0:0.0738:0.1319	.	596;531;552;595;595;595	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	N	591;531;596;552;595;552;595;595	ENSP00000383133:K591N;ENSP00000400528:K531N;ENSP00000323633:K596N;ENSP00000393434:K595N;ENSP00000430249:K552N;ENSP00000415089:K595N;ENSP00000392066:K595N	ENSP00000323633:K596N	K	+	3	2	DIP2A	46781864	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.303000	0.33470	0.878000	0.35920	0.482000	0.46254	AAA	DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.493	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	-	0	58	0	A	NM_015151		47957436	1	tier1	-	no_errors	ENST00000318711	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T	T	47957436	A	T	47957436	3	4	18	1	0	0	0	0	1	0	0	0	4541	69	3	5	1843	5	DIP2A	21	47957436	Missense_Mutation	SNP	A	TCGA-IG-A3YA-01A-11D-A247-09		47957436	172459	105	5171											
EGFL6	25975	genome.wustl.edu	37	chrX	13621508	13621508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggccacagtgcctgtGtccatcctcaggactccgcc	8	7	11	15	1	1	1	1	0	0	1	4	2	4	2	6	2	1	0	6	2	1	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chrX:13621508G>T	ENST00000361306.1	+	5	730	c.473G>T	c.(472-474)tGt>tTt	p.C158F	EGFL6_ENST00000380602.3_Missense_Mutation_p.C158F	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	158	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CAGTGCCTGTGTCCATCCTCA	0.502																																																	0													141	115	124					X																	13621508		2203	4300	6503	SO:0001583	missense	0			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"MAM and EGF domain containing"	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.473G>T	X.37:g.13621508G>T	ENSP00000355126:p.Cys158Phe		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.C158F	ENST00000361306.1	37	c.473	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323838	0.60634	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.97791	-4.54;-4.54	5.06	5.06	0.68205	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99061	0.9678	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.971	D	0.99525	1.0959	10	0.87932	D	0	.	17.2613	0.87070	0.0:0.0:1.0:0.0	.	158;158	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	F	158	ENSP00000355126:C158F;ENSP00000369976:C158F	ENSP00000355126:C158F	C	+	2	0	EGFL6	13531429	1.000000	0.71417	0.817000	0.32601	0.375000	0.29983	9.012000	0.93624	2.100000	0.63781	0.583000	0.79449	TGT	EGFL6	-	smart_EG-like_dom	ENSG00000198759		0.502	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	-	0	42	0	G	NM_015507		13621508	1	tier1	-	no_errors	ENST00000380602	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T	T	13621508	G	T	13621508	3	4	18	1	0	0	0	0	1	0	0	0	4977	1377	48	3	491	3	EGFL6	23	13621508	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09		13621508	141649052	106	5172											
FAM47C	442444	genome.wustl.edu	37	chrX	37027957	37027957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctccgcccagagcctcccGacactggagtgtcccatctc	7	8	8	18	2	2	1	0	0	2	1	6	3	4	2	5	1	1	0	5	1	0	0			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chrX:37027957G>A	ENST00000358047.3	+	1	1526	c.1474G>A	c.(1474-1476)Gac>Aac	p.D492N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	492										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGCCTCCCGACACTGGAGT	0.622																																																	0													73	71	72					X																	37027957		2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1474G>A	X.37:g.37027957G>A	ENSP00000367913:p.Asp492Asn		Q6ZU46	Missense_Mutation	SNP	NULL	p.D492N	ENST00000358047.3	37	c.1474	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	a	11.58	1.682033	0.29872	.	.	ENSG00000198173	ENST00000358047	T	0.14022	2.54	0.974	-1.95	0.07548	.	.	.	.	.	T	0.07324	0.0185	L	0.38175	1.15	0.09310	N	1	B	0.31655	0.334	B	0.22152	0.038	T	0.36720	-0.9736	9	0.20519	T	0.43	.	3.4805	0.07601	0.2206:0.2606:0.5188:0.0	.	492	Q5HY64	FA47C_HUMAN	N	492	ENSP00000367913:D492N	ENSP00000367913:D492N	D	+	1	0	FAM47C	36937878	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.995000	0.01472	-0.791000	0.04486	0.407000	0.27541	GAC	FAM47C	-	NULL	ENSG00000198173		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0	82	0	G	NM_001013736		37027957	1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	24.00	57	18	SNP	0.001	A	A	37027957	G	A	37027957	3	1	18	1	0	0	0	0	1	0	0	0	5593	1058	37	1	1476	1	FAM47C	23	37027957	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	23406449	37027957	118242603	107	5173											
BRWD3	254065	genome.wustl.edu	37	chrX	79940990	79940990	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgaatcttgttgtctttCtggaacaacagactctgagg	11	13	10	7	0	4	4	0	2	4	2	4	5	4	5	0	2	2	1	0	2	3	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chrX:79940990C>G	ENST00000373275.4	-	36	4267	c.4051G>C	c.(4051-4053)Gaa>Caa	p.E1351Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1351	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGTTGTCTTTCTGGAACAACA	0.378																																																	0													101	75	84					X																	79940990		2203	4300	6503	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4051G>C	X.37:g.79940990C>G	ENSP00000362372:p.Glu1351Gln		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E1351Q	ENST00000373275.4	37	c.4051	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	8.586	0.883498	0.17467	.	.	ENSG00000165288	ENST00000373275	T	0.56275	0.47	4.73	3.86	0.44501	Bromodomain (4);	0.658997	0.15346	N	0.267228	T	0.25827	0.0629	N	0.03209	-0.39	0.20764	N	0.999851	B	0.30542	0.284	B	0.32090	0.14	T	0.11108	-1.0601	9	.	.	.	-8.3853	6.9363	0.24468	0.0:0.877:0.0:0.123	.	1351	Q6RI45	BRWD3_HUMAN	Q	1351	ENSP00000362372:E1351Q	.	E	-	1	0	BRWD3	79827646	1.000000	0.71417	0.919000	0.36401	0.968000	0.65278	3.018000	0.49625	2.313000	0.78055	0.538000	0.68166	GAA	BRWD3	-	superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000165288		0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0	49	0	C	NM_153252		79940990	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.688	G	G	79940990	C	G	79940990	3	3	18	1	0	0	0	0	1	0	0	0	1530	922	32	5	1381	5	BRWD3	23	79940990	Missense_Mutation	SNP	C	TCGA-IG-A3YA-01A-11D-A247-09	42913033	79940990	75329570	108	5174											
HMGN5	79366	genome.wustl.edu	37	chrX	80371790	80371790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggtttcagcaactgcttgGgcacttgtatctatgttttc	6	18	9	8	0	2	0	1	0	1	0	3	0	2	0	0	2	3	6	0	2	3	8			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chrX:80371790G>T	ENST00000358130.2	-	6	508	c.180C>A	c.(178-180)gcC>gcA	p.A60A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	60					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A60A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CAACTGCTTGGGCACTTGTAT	0.328																																																	2	Substitution - coding silent(2)	endometrium(2)											148	113	125					X																	80371790		2203	4297	6500	SO:0001819	synonymous_variant	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.180C>A	X.37:g.80371790G>T			Q5JSL1	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A60	ENST00000358130.2	37	c.180	CCDS14448.1	X																																																																																			HMGN5	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000198157		0.328	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1		0	43	0	G	NM_030763		80371790	-1			no_errors	ENST00000358130	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.020	T	T	80371790	G	T	80371790	2	4	18	1	0	0	0	0	0	0	0	1	7265	1219	43	3		3	HMGN5	23	80371790	Silent	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	430800	80371790	74898770	109	5175											
SATL1	340562	genome.wustl.edu	37	chrX	84362459	84362459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcctggttgactcaGgcctggttggctcagcacta	5	11	12	13	0	2	1	2	1	0	0	3	1	3	1	3	4	2	5	3	4	1	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chrX:84362459G>C	ENST00000395409.3	-	1	1515	c.955C>G	c.(955-957)Ctg>Gtg	p.L319V	SATL1_ENST00000332921.5_Missense_Mutation_p.L319V|SATL1_ENST00000509231.1_Missense_Mutation_p.L506V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	319	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGTTGACTCAGGCCTGGTTGG	0.557																																																	0													130	108	116					X																	84362459		2203	4300	6503	SO:0001583	missense	0			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.955C>G	X.37:g.84362459G>C	ENSP00000378804:p.Leu319Val		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.L506V	ENST00000395409.3	37	c.1516		X	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710072	0.00712	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40476	1.03;1.03;1.03	3.29	-6.58	0.01836	.	.	.	.	.	T	0.21674	0.0522	L	0.50333	1.59	0.09310	N	1	P;B	0.35328	0.495;0.112	B;B	0.25987	0.065;0.019	T	0.28073	-1.0055	9	0.08381	T	0.77	4.4435	3.7044	0.08394	0.1134:0.1923:0.5095:0.1849	.	319;506	Q86VE3;E9PB72	SATL1_HUMAN;.	V	319;319;506	ENSP00000378804:L319V;ENSP00000329115:L319V;ENSP00000425421:L506V	ENSP00000329115:L319V	L	-	1	2	SATL1	84249115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.879000	0.04188	-1.695000	0.01423	-0.191000	0.12829	CTG	SATL1	-	NULL	ENSG00000184788		0.557	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		-	0	81	0	G	XM_291339		84362459	-1	tier1	-	no_errors	ENST00000509231	ensembl	human	known	74_37	missense	33.33	66	33	SNP	0.000	C	C	84362459	G	C	84362459	3	2	18	1	0	0	0	0	1	0	0	0	13900	991	35	5	402	5	SATL1	23	84362459	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	3990669	84362459	70908101	110	5176											
GLA	2717	genome.wustl.edu	37	chrX	100656624	100656624	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatgaaacattaccatcTgccaaattttccaaactgtc	14	12	5	10	0	1	1	0	1	1	0	3	2	2	2	3	1	4	0	3	1	5	3			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chrX:100656624T>C	ENST00000218516.3	-	3	564	c.543A>G	c.(541-543)gcA>gcG	p.A181A	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	181					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CATTACCATCTGCCAAATTTT	0.403																																					Colon(193;776 2816 31189 44474)												0													119	105	110					X																	100656624		2203	4300	6503	SO:0001819	synonymous_variant	0			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.543A>G	X.37:g.100656624T>C			Q6LER7	Silent	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.A181	ENST00000218516.3	37	c.543	CCDS14484.1	X																																																																																			GLA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000102393		0.403	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	-	0	55	0	T			100656624	-1	tier1	-	no_errors	ENST00000218516	ensembl	human	known	74_37	silent	7.35	63	5	SNP	0.290	C	C	100656624	T	C	100656624	2	2	18	1	0	0	0	0	0	0	0	1	6452	1567	55	4		4	GLA	23	100656624	Silent	SNP	T	TCGA-IG-A3YA-01A-11D-A247-09	16294165	100656624	54613936	111	5177											
AMOT	154796	genome.wustl.edu	37	chrX	112058876	112058876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccaggttgggagagacGgtaatgatccccctggtgag	9	7	16	9	1	0	3	0	2	0	1	1	5	1	4	3	5	0	2	3	5	1	2			TCGA-IG-A3YA-01A-11D-A247-09	TCGA-IG-A3YA-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83152189-f14c-4816-b37f-1c7c9415b42c	279e35d6-308d-46ad-944d-0ef7e38237b1	g.chrX:112058876G>A	ENST00000524145.1	-	3	1176	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	AMOT_ENST00000371958.1_Missense_Mutation_p.R136C|AMOT_ENST00000371962.1_Missense_Mutation_p.R136C|AMOT_ENST00000371959.3_Missense_Mutation_p.R368C|AMOT_ENST00000304758.1_5'UTR			Q4VCS5	AMOT_HUMAN	angiomotin	368					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGGGAGAGACGGTAATGATCC	0.587																																																	0													68	62	64					X																	112058876		692	1591	2283	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1102C>T	X.37:g.112058876G>A	ENSP00000429013:p.Arg368Cys		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.R368C	ENST00000524145.1	37	c.1102	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797333	0.50208	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.31	5.31	0.75309	.	0.162865	0.40728	N	0.001031	T	0.15003	0.0362	L	0.36672	1.1	0.58432	D	0.999996	D	0.67145	0.996	B	0.43623	0.425	T	0.01062	-1.1464	10	0.56958	D	0.05	-4.9457	16.9735	0.86306	0.0:0.0:1.0:0.0	.	368	Q4VCS5	AMOT_HUMAN	C	368;136;368;136	ENSP00000361027:R368C;ENSP00000361030:R136C;ENSP00000429013:R368C;ENSP00000361026:R136C	ENSP00000361026:R136C	R	-	1	0	AMOT	111945532	1.000000	0.71417	0.937000	0.37676	0.239000	0.25481	4.204000	0.58460	2.475000	0.83589	0.529000	0.55759	CGT	AMOT	-	NULL	ENSG00000126016		0.587	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	-	0	44	0	G	NM_133265		112058876	-1	tier1	-	no_errors	ENST00000371959	ensembl	human	known	74_37	missense	32.20	40	19	SNP	1.000	A	A	112058876	G	A	112058876	3	1	18	1	0	0	0	0	1	0	0	0	582	1116	39	1	2192	1	AMOT	23	112058876	Missense_Mutation	SNP	G	TCGA-IG-A3YA-01A-11D-A247-09	11402252	112058876	43211684	112	5178											
ZMYM6	9204	genome.wustl.edu	37	chr1	35480667	35480667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacaggttttttctttagCtcataagatgacaagcatga	14	13	7	7	0	2	3	1	2	1	1	2	3	2	3	0	1	3	3	0	1	4	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:35480667C>T	ENST00000357182.4	-	5	752	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZMYM6_ENST00000373340.2_Silent_p.E175E|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Silent_p.E175E	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	175					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTTCTTTAGCTCATAAGATG	0.338																																																	0													91	86	88					1																	35480667		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.525G>A	1.37:g.35480667C>T			B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.E175	ENST00000357182.4	37	c.525	CCDS387.2	1																																																																																			ZMYM6	-	smart_TRASH_dom	ENSG00000163867		0.338	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0	48	0	C	NM_007167		35480667	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	silent	26.98	46	17	SNP	0.998	T	T	35480667	C	T	35480667	2	4	19	1	0	0	0	0	0	0	0	1	17752	796	28	3		3	ZMYM6	1	35480667	Silent	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		35480667	213769954	1	5179											
SLFNL1	200172	genome.wustl.edu	37	chr1	41483479	41483479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaccaggccgctgtcctctActcccacgagcaggctgccg	6	6	11	18	3	1	0	0	0	1	0	3	1	3	0	5	2	3	4	5	2	1	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:41483479A>G	ENST00000359345.1	-	2	3361	c.785T>C	c.(784-786)gTa>gCa	p.V262A	SLFNL1_ENST00000397197.2_Missense_Mutation_p.V262A|SLFNL1_ENST00000439569.2_Missense_Mutation_p.V262A|SLFNL1_ENST00000372611.1_Missense_Mutation_p.V203A|SLFNL1_ENST00000302946.8_Missense_Mutation_p.V262A|SLFNL1_ENST00000372613.2_Missense_Mutation_p.V262A	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	262							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCTGTCCTCTACTCCCACGAG	0.682																																																	0													51	49	49					1																	41483479		2203	4299	6502	SO:0001583	missense	0			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.785T>C	1.37:g.41483479A>G	ENSP00000352299:p.Val262Ala		A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.V262A	ENST00000359345.1	37	c.785	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358343	0.41801	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.42	4.28	0.50868	.	0.393405	0.21576	N	0.072339	T	0.71888	0.3393	M	0.87381	2.88	0.34529	D	0.708964	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.67725	0.941;0.921;0.953	T	0.80350	-0.1419	10	0.87932	D	0	-34.6004	8.6956	0.34293	0.8308:0.0:0.0:0.1692	.	262;203;262	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	A	262;262;203;262;262;262	ENSP00000304401:V262A;ENSP00000361696:V262A;ENSP00000361694:V203A;ENSP00000352299:V262A;ENSP00000398938:V262A;ENSP00000380381:V262A	ENSP00000304401:V262A	V	-	2	0	SLFNL1	41256066	1.000000	0.71417	0.628000	0.29241	0.002000	0.02628	6.285000	0.72658	0.874000	0.35823	-0.516000	0.04426	GTA	SLFNL1	-	pfam_ATPase_AAA-4	ENSG00000171790		0.682	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	HGNC	protein_coding	OTTHUMT00000015650.1	-	0	33	0	A	NM_144990		41483479	-1	tier1	-	no_errors	ENST00000302946	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.914	G	G	41483479	A	G	41483479	3	3	19	1	0	0	0	0	1	0	0	0	14783	391	14	4	450	4	SLFNL1	1	41483479	Missense_Mutation	SNP	A	TCGA-IG-A3YB-01A-11D-A247-09	6002812	41483479	207767142	2	5180											
ABCA4	24	genome.wustl.edu	37	chr1	94502778	94502778	+	Frame_Shift_Del	DEL	G	G	-																															ctcctccagctctctgaaaaGgctggcatatgctctgtgct																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:94502778delG	ENST00000370225.3	-	25	3822	c.3736delC	c.(3736-3738)cttfs	p.L1246fs		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1246					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTCTGAAAAGGCTGGCATAT	0.483																																																	0													110	111	110					1																	94502778		2203	4300	6503	SO:0001589	frameshift_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3736delC	1.37:g.94502778delG	ENSP00000359245:p.Leu1246fs		O15112|O60438|O60915|Q0QD48|Q4LE31	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.L1246fs	ENST00000370225.3	37	c.3736	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.483	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1		0	19	0	G	NM_000350		94502778	-1	tier1		no_errors	ENST00000370225	ensembl	human	known	74_37	frame_shift_del	15.38	22	4	DEL	1.000	-	-	94502778	G	-	94502778	7	5	19	1	0	1	0	1	0	0	0	0	34	1000	35	0	3189	0	ABCA4	1	94502778	Frame_Shift_Del	DEL	G	TCGA-IG-A3YB-01A-11D-A247-09	53019299	94502778	154747843	3	5181											
LRIG2	9860	genome.wustl.edu	37	chr1	113655143	113655143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaatggatctgactattcGcactggtgccatggccagat	9	10	11	11	1	1	2	0	1	1	1	2	3	1	3	3	3	1	1	3	3	2	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:113655143G>T	ENST00000361127.5	+	14	2039	c.1841G>T	c.(1840-1842)cGc>cTc	p.R614L	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	614	Ig-like C2-type 2.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478																																																	0													145	139	141					1																	113655143		2203	4300	6503	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.1841G>T	1.37:g.113655143G>T	ENSP00000355396:p.Arg614Leu		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R614L	ENST00000361127.5	37	c.1841	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	g	34	5.351914	0.95830	.	.	ENSG00000198799	ENST00000361127	T	0.67523	-0.27	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	N	0.24115	0.695	0.80722	D	1	P	0.43314	0.803	P	0.53006	0.715	T	0.55140	-0.8187	10	0.24483	T	0.36	.	19.2881	0.94087	0.0:0.0:1.0:0.0	.	614	O94898	LRIG2_HUMAN	L	614	ENSP00000355396:R614L	ENSP00000355396:R614L	R	+	2	0	LRIG2	113456666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.560000	0.86352	0.591000	0.81541	CGC	LRIG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000198799		0.478	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2		0	30	0	G	NM_014813		113655143	1			no_errors	ENST00000361127	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	113655143	G	T	113655143	3	4	19	1	0	0	0	0	1	0	0	0	8980	1087	38	2	1895	2	LRIG2	1	113655143	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	19152365	113655143	135595478	4	5182											
SPTA1	6708	genome.wustl.edu	37	chr1	158582626	158582626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgcttcatgtcttctttgGtaatatatgacttgccctct	6	18	6	11	0	4	1	1	1	3	0	4	1	4	1	2	1	2	2	2	1	3	7			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:158582626G>T	ENST00000368147.4	-	51	7295	c.7115C>A	c.(7114-7116)aCc>aAc	p.T2372N	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2372	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCTTCTTTGGTAATATATGA	0.453																																																	0													132	129	130					1																	158582626		1926	4135	6061	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7115C>A	1.37:g.158582626G>T	ENSP00000357129:p.Thr2372Asn		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.T2372N	ENST00000368147.4	37	c.7115	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372494	0.82573	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.64085	-0.08;-0.08	5.09	5.09	0.68999	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.33144	N	0.005239	T	0.64080	0.2566	L	0.60012	1.86	0.58432	D	0.999998	P	0.40553	0.721	P	0.49597	0.616	T	0.67902	-0.5550	10	0.87932	D	0	.	17.5944	0.88007	0.0:0.0:1.0:0.0	.	2372	P02549	SPTA1_HUMAN	N	2372;2369	ENSP00000357130:T2372N;ENSP00000357129:T2369N	ENSP00000357129:T2369N	T	-	2	0	SPTA1	156849250	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.747000	0.91610	2.795000	0.96236	0.655000	0.94253	ACC	SPTA1	-	pfam_EF-hand_Ca_insen	ENSG00000163554		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	36	0	G	NM_003126		158582626	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	158582626	G	T	158582626	3	4	19	1	0	0	0	0	1	0	0	0	15163	1261	44	3	152	3	SPTA1	1	158582626	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	44927483	158582626	90667995	5	5183											
TNR	7143	genome.wustl.edu	37	chr1	175293656	175293656	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagctgagggagtcccCtgcaaaaaagatacattcat	15	9	9	8	0	1	3	1	2	0	1	2	4	2	4	2	1	3	2	2	1	5	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:175293656C>A	ENST00000367674.2	-	22	4502		c.e22-1		RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Splice_Site			Q92752	TENR_HUMAN	tenascin R						associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGGAGTCCCCTGCAAAAAAG	0.468																																																	0													187	166	173					1																	175293656		2203	4300	6503	SO:0001630	splice_region_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3794-1G>T	1.37:g.175293656C>A			C9J563|Q15568|Q5R3G0	Splice_Site	SNP	-	e20-1	ENST00000367674.2	37	c.3794-1	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715277	0.89112	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3551	0.94408	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNR	173560279	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.666000	0.90696	0.655000	0.94253	.	TNR	-	-	ENSG00000116147		0.468	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	37	0	C	NM_003285	Intron	175293656	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	splice_site	21.43	44	12	SNP	1.000	A	A	175293656	C	A	175293656	5	1	19	1	0	0	0	0	0	0	1	0	16385	695	24	3	291	3	TNR	1	175293656	Splice_Site	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	16711030	175293656	73956965	6	5184											
PAPPA2	60676	genome.wustl.edu	37	chr1	176679141	176679141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccaagcctttgctacatGtatgagggagatggcatatg	11	10	13	7	0	0	2	0	1	0	1	0	4	0	2	2	2	4	3	2	2	4	4	rs200391413	byFrequency	TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:176679141G>T	ENST00000367662.3	+	11	4644	c.3480G>T	c.(3478-3480)atG>atT	p.M1160I		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1160					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTGCTACATGTATGAGGGAG	0.413																																																	0													120	112	115					1																	176679141		1897	4122	6019	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3480G>T	1.37:g.176679141G>T	ENSP00000356634:p.Met1160Ile		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.M1160I	ENST00000367662.3	37	c.3480	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.680263	0.00751	.	.	ENSG00000116183	ENST00000367662	T	0.40476	1.03	5.76	-3.33	0.04958	.	0.490362	0.23720	N	0.045224	T	0.06826	0.0174	N	0.00368	-1.59	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.34428	-0.9829	10	0.02654	T	1	0.0301	3.7975	0.08746	0.1742:0.4706:0.1985:0.1567	.	1160	Q9BXP8	PAPP2_HUMAN	I	1160	ENSP00000356634:M1160I	ENSP00000356634:M1160I	M	+	3	0	PAPPA2	174945764	0.594000	0.26849	0.003000	0.11579	0.222000	0.24845	-0.198000	0.09505	-0.571000	0.06014	-0.136000	0.14681	ATG	PAPPA2	-	NULL	ENSG00000116183		0.413	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	32	0	G			176679141	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.017	T	T	176679141	G	T	176679141	3	4	19	1	0	0	0	0	1	0	0	0	11472	1377	48	3	3571	3	PAPPA2	1	176679141	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	1385485	176679141	72571480	7	5185											
EXOC8	149371	genome.wustl.edu	37	chr1	231472386	231472386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggtgggctaggtttaTcttccaggtaatggttcaat	9	13	13	6	0	2	0	1	0	1	0	3	1	3	1	1	6	0	4	1	6	4	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:231472386T>C	ENST00000360394.2	-	1	1192	c.1106A>G	c.(1105-1107)gAt>gGt	p.D369G	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.D365G|SPRTN_ENST00000391858.4_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	369					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GCTAGGTTTATCTTCCAGGTA	0.502																																																	0													66	70	69					1																	231472386		2203	4300	6503	SO:0001583	missense	0			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1106A>G	1.37:g.231472386T>C	ENSP00000353564:p.Asp369Gly		B3KU33|Q5TE82	Missense_Mutation	SNP	superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D369G	ENST00000360394.2	37	c.1106	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731066	0.30684	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77750	-1.12;-1.12	5.16	4.01	0.46588	Cullin repeat-like-containing domain (1);	0.166473	0.51477	D	0.000092	T	0.65585	0.2705	L	0.36672	1.1	0.54753	D	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.59595	-0.7425	10	0.19147	T	0.46	-18.1005	11.1481	0.48442	0.0:0.0826:0.0:0.9174	.	369	Q8IYI6	EXOC8_HUMAN	G	369;365	ENSP00000353564:D369G;ENSP00000355605:D365G	ENSP00000353564:D369G	D	-	2	0	EXOC8	229539009	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.062000	0.57492	2.148000	0.66965	0.533000	0.62120	GAT	EXOC8	-	superfamily_Cullin_repeat-like_dom	ENSG00000116903		0.502	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		-	0	18	0	T	NM_175876		231472386	-1	tier1	-	no_errors	ENST00000360394	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	C	C	231472386	T	C	231472386	3	2	19	1	0	0	0	0	1	0	0	0	5327	1435	50	4	1075	4	EXOC8	1	231472386	Missense_Mutation	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	54793245	231472386	17778235	8	5186											
PCNXL2	80003	genome.wustl.edu	37	chr1	233394198	233394198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcccccctccccagatccGtagccagaacactgattggt	8	10	7	16	1	0	3	0	1	0	2	3	3	3	3	7	1	2	1	7	1	2	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr1:233394198G>A	ENST00000258229.9	-	5	1644	c.1410C>T	c.(1408-1410)taC>taT	p.Y470Y	PCNXL2_ENST00000430153.1_De_novo_Start_OutOfFrame	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	470						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCCCAGATCCGTAGCCAGAAC	0.562																																																	0													58	61	60					1																	233394198		1981	4158	6139	SO:0001819	synonymous_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1410C>T	1.37:g.233394198G>A			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.Y470	ENST00000258229.9	37	c.1410	CCDS44335.1	1																																																																																			PCNXL2	-	NULL	ENSG00000135749		0.562	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0	23	0	G	NM_014801		233394198	-1	tier1	-	no_errors	ENST00000258229	ensembl	human	known	74_37	silent	52.08	23	25	SNP	0.026	A	A	233394198	G	A	233394198	2	1	19	1	0	0	0	0	0	0	0	1	11631	1140	40	1		1	PCNXL2	1	233394198	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	1921812	233394198	15856423	9	5187											
LTBP1	4052	genome.wustl.edu	37	chr2	33335690	33335690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtggtgattcaccatgGccagacccaggaatacgtgc	10	8	13	10	1	1	2	1	1	0	1	1	4	1	3	3	3	2	0	3	3	2	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:33335690G>T	ENST00000404816.2	+	4	1258	c.905G>T	c.(904-906)gGc>gTc	p.G302V	LTBP1_ENST00000354476.3_Missense_Mutation_p.G302V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	302					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATTCACCATGGCCAGACCCAG	0.443																																																	0													116	118	117					2																	33335690		2203	4300	6503	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.905G>T	2.37:g.33335690G>T	ENSP00000386043:p.Gly302Val		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G302V	ENST00000404816.2	37	c.905	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386311	0.42308	.	.	ENSG00000049323	ENST00000404816;ENST00000354476	T;T	0.80480	-1.38;-1.36	5.51	4.62	0.57501	.	.	.	.	.	T	0.75657	0.3879	L	0.36672	1.1	0.80722	D	1	P	0.39131	0.661	B	0.40101	0.319	T	0.76340	-0.2995	9	0.49607	T	0.09	.	16.1598	0.81693	0.0:0.1337:0.8663:0.0	.	302	Q14766-4	.	V	302	ENSP00000386043:G302V;ENSP00000346467:G302V	ENSP00000346467:G302V	G	+	2	0	LTBP1	33189194	1.000000	0.71417	0.995000	0.50966	0.164000	0.22412	5.019000	0.64060	1.280000	0.44463	0.650000	0.86243	GGC	LTBP1	-	NULL	ENSG00000049323		0.443	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2		0	76	0	G	NM_206943		33335690	1			no_errors	ENST00000354476	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	33335690	G	T	33335690	3	4	19	1	0	0	0	0	1	0	0	0	9108	1203	42	3	919	3	LTBP1	2	33335690	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		33335690	209863683	10	5188											
UBXN4	23190	genome.wustl.edu	37	chr2	136537813	136537813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagacatttggaccttgttgGgaacagtgctttatccattc	9	14	10	8	0	0	1	0	0	0	1	2	4	1	3	2	2	2	2	2	2	2	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:136537813G>C	ENST00000272638.9	+	12	1557	c.1246G>C	c.(1246-1248)Gga>Cga	p.G416R	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	416					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GACCTTGTTGGGAACAGTGCT	0.418																																																	0													187	171	176					2																	136537813		1920	4133	6053	SO:0001583	missense	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1246G>C	2.37:g.136537813G>C	ENSP00000272638:p.Gly416Arg		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.G416R	ENST00000272638.9	37	c.1246	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328610	0.81690	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.52295	0.67	4.79	4.79	0.61399	.	0.052027	0.85682	D	0.000000	T	0.68109	0.2965	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.68853	-0.5299	10	0.45353	T	0.12	.	18.0192	0.89250	0.0:0.0:1.0:0.0	.	416	Q92575	UBXN4_HUMAN	R	416;398	ENSP00000272638:G416R	ENSP00000272638:G416R	G	+	1	0	UBXN4	136254283	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.912000	0.69948	2.498000	0.84270	0.484000	0.47621	GGA	UBXN4	-	NULL	ENSG00000144224		0.418	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	-	0	72	0	G	NM_014607		136537813	1	tier1	-	no_errors	ENST00000272638	ensembl	human	known	74_37	missense	26.37	67	24	SNP	1.000	C	C	136537813	G	C	136537813	3	2	19	1	0	0	0	0	1	0	0	0	16965	1233	43	5	1292	5	UBXN4	2	136537813	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	103202123	136537813	106661560	11	5189											
KIF5C	3800	genome.wustl.edu	37	chr2	149633197	149633197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccgagatggcggatcCagccgaatgcagcatcaaag	11	4	14	12	4	1	1	1	0	0	1	2	4	2	2	4	3	3	2	4	3	2	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:149633197C>T	ENST00000435030.1	+	1	379	c.11C>T	c.(10-12)cCa>cTa	p.P4L	AC105402.4_ENST00000446781.2_RNA|AC105402.4_ENST00000601658.1_RNA			O60282	KIF5C_HUMAN	kinesin family member 5C	4					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATGGCGGATCCAGCCGAATGC	0.667																																																	0													16	18	17					2																	149633197		1776	4022	5798	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.11C>T	2.37:g.149633197C>T	ENSP00000393379:p.Pro4Leu		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.P4L	ENST00000435030.1	37	c.11		2	.	.	.	.	.	.	.	.	.	.	c	17.73	3.460920	0.63513	.	.	ENSG00000168280	ENST00000451033;ENST00000435030	T	0.75154	-0.91	5.0	4.09	0.47781	.	.	.	.	.	T	0.67487	0.2898	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.14578	0.011	T	0.63337	-0.6660	8	0.45353	T	0.12	.	14.1533	0.65401	0.1513:0.8487:0.0:0.0	.	4	O60282	KIF5C_HUMAN	L	4	ENSP00000393379:P4L	ENSP00000393379:P4L	P	+	2	0	KIF5C	149349667	1.000000	0.71417	0.980000	0.43619	0.965000	0.64279	7.379000	0.79691	1.061000	0.40601	0.444000	0.29173	CCA	KIF5C	-	NULL	ENSG00000168280		0.667	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	-	0	19	0	C	NM_004522		149633197	1	tier1	-	no_errors	ENST00000435030	ensembl	human	known	74_37	missense	72.83	25	67	SNP	1.000	T	T	149633197	C	T	149633197	3	4	19	1	0	0	0	0	1	0	0	0	8334	594	21	3	13	3	KIF5C	2	149633197	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	13095384	149633197	93566176	12	5190											
KIF5C	3800	genome.wustl.edu	37	chr2	149840246	149840246	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaaagatctgggggagaTaggtggaattattggcacca	12	10	15	4	0	1	3	0	1	1	2	1	5	1	4	1	5	0	2	1	5	4	4			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:149840246T>A	ENST00000435030.1	+	15	2050	c.1682T>A	c.(1681-1683)aTa>aAa	p.I561K	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.I466K|KIF5C_ENST00000397413.1_Missense_Mutation_p.I329K			O60282	KIF5C_HUMAN	kinesin family member 5C	561					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGGGGGAGATAGGTGGAATT	0.463																																																	0													76	75	75					2																	149840246		1901	4134	6035	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1682T>A	2.37:g.149840246T>A	ENSP00000393379:p.Ile561Lys		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.I561K	ENST00000435030.1	37	c.1682		2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.928918	0.92389	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.81163	-1.46;-1.46;-1.46	5.46	5.46	0.80206	.	0.065505	0.64402	D	0.000005	D	0.89167	0.6638	.	.	.	0.80722	D	1	P;D	0.76494	0.956;0.999	P;D	0.70227	0.786;0.968	D	0.89855	0.4012	9	0.54805	T	0.06	.	15.7119	0.77635	0.0:0.0:0.0:1.0	.	561;127	O60282;Q3LIE3	KIF5C_HUMAN;.	K	561;466;464;329	ENSP00000393379:I561K;ENSP00000410115:I466K;ENSP00000380560:I329K	ENSP00000334176:I464K	I	+	2	0	KIF5C	149548492	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	7.868000	0.87116	2.291000	0.77112	0.533000	0.62120	ATA	KIF5C	-	NULL	ENSG00000168280		0.463	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	-	0	71	0	T	NM_004522		149840246	1	tier1	-	no_errors	ENST00000435030	ensembl	human	known	74_37	missense	80.70	44	184	SNP	1.000	A	A	149840246	T	A	149840246	3	1	19	1	0	0	0	0	1	0	0	0	8334	1406	49	5	1662	5	KIF5C	2	149840246	Missense_Mutation	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	207049	149840246	93359127	13	5191											
NEB	4703	genome.wustl.edu	37	chr2	152525591	152525591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaataaactgaggcaattCagggtcaatagtatacttgt	14	13	9	5	0	2	2	2	2	0	0	2	2	2	2	0	2	2	2	0	2	8	7			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:152525591C>T	ENST00000172853.10	-	39	4708	c.4561G>A	c.(4561-4563)Gaa>Aaa	p.E1521K	NEB_ENST00000603639.1_Missense_Mutation_p.E1521K|NEB_ENST00000397345.3_Missense_Mutation_p.E1521K|NEB_ENST00000604864.1_Missense_Mutation_p.E1521K|NEB_ENST00000427231.2_Missense_Mutation_p.E1521K|NEB_ENST00000409198.1_Missense_Mutation_p.E1521K			P20929	NEBU_HUMAN	nebulin	1521					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGAGGCAATTCAGGGTCAATA	0.423																																																	0													134	131	132					2																	152525591		1905	4122	6027	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4561G>A	2.37:g.152525591C>T	ENSP00000172853:p.Glu1521Lys		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.E1521K	ENST00000172853.10	37	c.4561		2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682666	0.88542	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06294	3.32;3.32;3.33;3.32	6.07	6.07	0.98685	.	0.212522	0.49305	D	0.000153	T	0.12092	0.0294	L	0.46157	1.445	0.80722	D	1	B	0.30104	0.268	B	0.36092	0.217	T	0.02885	-1.1098	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1521	P20929	NEBU_HUMAN	K	1521	ENSP00000386259:E1521K;ENSP00000380505:E1521K;ENSP00000416578:E1521K;ENSP00000172853:E1521K	ENSP00000172853:E1521K	E	-	1	0	NEB	152233837	1.000000	0.71417	0.279000	0.24732	0.982000	0.71751	6.478000	0.73596	2.885000	0.99019	0.655000	0.94253	GAA	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	47	0	C	NM_004543		152525591	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	24.64	51	17	SNP	0.995	T	T	152525591	C	T	152525591	3	4	19	1	0	0	0	0	1	0	0	0	10341	835	29	3	21701	3	NEB	2	152525591	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	2685345	152525591	90673782	14	5192											
TTC21B	79809	genome.wustl.edu	37	chr2	166756357	166756357	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatcagggtcatcttGtgccaggtataatcgtgcca	10	10	12	9	1	3	0	2	0	1	0	4	1	3	1	2	3	2	2	2	3	3	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:166756357G>A	ENST00000243344.7	-	21	2928	c.2791C>T	c.(2791-2793)Caa>Taa	p.Q931*		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	931					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GGGTCATCTTGTGCCAGGTAT	0.458																																																	0													100	94	96					2																	166756357		2203	4300	6503	SO:0001587	stop_gained	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2791C>T	2.37:g.166756357G>A	ENSP00000243344:p.Gln931*		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Nonsense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q931*	ENST00000243344.7	37	c.2791	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.207774	0.98706	.	.	ENSG00000123607	ENST00000243344	.	.	.	5.54	5.54	0.83059	.	0.113843	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-13.7984	14.0696	0.64852	0.0722:0.0:0.9278:0.0	.	.	.	.	X	931	.	ENSP00000243344:Q931X	Q	-	1	0	TTC21B	166464603	1.000000	0.71417	0.907000	0.35723	0.719000	0.41307	7.099000	0.76981	2.763000	0.94921	0.650000	0.86243	CAA	TTC21B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000123607		0.458	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0	46	0	G	NM_024753		166756357	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	nonsense	23.08	40	12	SNP	1.000	A	A	166756357	G	A	166756357	4	1	19	1	0	0	0	0	0	1	0	0	16737	1386	48	3	1195	3	TTC21B	2	166756357	Nonsense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	14230766	166756357	76443016	15	5193											
FSIP2	401024	genome.wustl.edu	37	chr2	186664649	186664649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaacatttagcaagattaTttcaattcattctcaagtgt	14	15	5	7	0	3	1	3	0	1	1	4	1	3	1	0	0	3	2	0	0	6	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:186664649T>C	ENST00000424728.1	+	17	10616	c.10616T>C	c.(10615-10617)aTt>aCt	p.I3539T	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.I3628T|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3539										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGCAAGATTATTTCAATTCAT	0.308																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.10616T>C	2.37:g.186664649T>C	ENSP00000401306:p.Ile3539Thr		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.I3628T	ENST00000424728.1	37	c.10883		2	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023885	0.35701	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.55413	0.52;0.52	5.32	5.32	0.75619	.	0.104953	0.42821	D	0.000655	T	0.60130	0.2245	M	0.61703	1.905	0.25483	N	0.987712	.	.	.	.	.	.	T	0.59653	-0.7414	8	0.87932	D	0	.	11.6113	0.51062	0.0:0.0:0.0:1.0	.	.	.	.	T	3628;3539	ENSP00000344403:I3628T;ENSP00000401306:I3539T	ENSP00000344403:I3628T	I	+	2	0	FSIP2	186372894	0.998000	0.40836	0.975000	0.42487	0.491000	0.33493	3.395000	0.52558	2.233000	0.73108	0.455000	0.32223	ATT	FSIP2	-	NULL	ENSG00000188738		0.308	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	38	0	T	NM_173651		186664649	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	14.63	70	12	SNP	0.997	C	C	186664649	T	C	186664649	3	2	19	1	0	0	0	0	1	0	0	0	6099	1493	52	4	10949	4	FSIP2	2	186664649	Missense_Mutation	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	19908292	186664649	56534724	16	5194											
FAM171B	165215	genome.wustl.edu	37	chr2	187615950	187615950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaggtcaatggctctattCaagtttctcttcctcttcta	9	17	5	10	0	6	0	2	0	4	0	8	0	7	0	1	2	0	2	1	2	6	7			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:187615950C>G	ENST00000304698.5	+	5	1017	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	272						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGCTCTATTCAAGTTTCTCT	0.368																																																	0													109	116	113					2																	187615950		2203	4300	6503	SO:0001583	missense	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.814C>G	2.37:g.187615950C>G	ENSP00000304108:p.Gln272Glu		Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.Q272E	ENST00000304698.5	37	c.814	CCDS33347.1	2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489456	0.44249	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.30448	1.53	5.53	5.53	0.82687	.	0.053388	0.85682	D	0.000000	T	0.32466	0.0830	L	0.50333	1.59	0.51233	D	0.999916	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.03933	-1.0991	10	0.41790	T	0.15	-7.5437	17.6355	0.88121	0.0:1.0:0.0:0.0	.	272;273	Q6P995;A8K122	F171B_HUMAN;.	E	272	ENSP00000304108:Q272E	ENSP00000272804:Q272E	Q	+	1	0	FAM171B	187324195	1.000000	0.71417	0.904000	0.35570	0.753000	0.42808	4.535000	0.60629	2.611000	0.88343	0.609000	0.83330	CAA	FAM171B	-	pfam_Uncharacterised_FAM171	ENSG00000144369		0.368	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1	-	0	65	0	C	NM_177454		187615950	1	tier1	-	no_errors	ENST00000304698	ensembl	human	known	74_37	missense	13.85	112	18	SNP	1.000	G	G	187615950	C	G	187615950	3	3	19	1	0	0	0	0	1	0	0	0	5510	827	29	5	832	5	FAM171B	2	187615950	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	951301	187615950	55583423	17	5195											
HECW2	57520	genome.wustl.edu	37	chr2	197184302	197184302	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcacccatggacctctCagagcaggtcgctgtccccg	8	6	12	15	2	1	2	1	0	1	2	4	3	2	3	4	3	1	3	4	3	0	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:197184302C>A	ENST00000260983.3	-	9	1494	c.1312G>T	c.(1312-1314)Gag>Tag	p.E438*	HECW2_ENST00000409111.1_Nonsense_Mutation_p.E82*	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	438					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGGACCTCTCAGAGCAGGTC	0.502																																																	0													54	55	54					2																	197184302		2203	4300	6503	SO:0001587	stop_gained	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1312G>T	2.37:g.197184302C>A	ENSP00000260983:p.Glu438*		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E438*	ENST00000260983.3	37	c.1312	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.125645	0.94429	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	5.64	4.75	0.60458	.	0.885835	0.10160	N	0.708386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.4253	0.67212	0.1475:0.8525:0.0:0.0	.	.	.	.	X	82;438	.	ENSP00000260983:E438X	E	-	1	0	HECW2	196892547	1.000000	0.71417	0.725000	0.30721	0.026000	0.11368	4.832000	0.62759	1.603000	0.50134	-0.188000	0.12872	GAG	HECW2	-	NULL	ENSG00000138411		0.502	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0	19	0	C	NM_020760		197184302	-1			no_errors	ENST00000260983	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	0.957	A	A	197184302	C	A	197184302	4	1	19	1	0	0	0	0	0	1	0	0	7070	835	29	3	3490	3	HECW2	2	197184302	Nonsense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	9568352	197184302	46015071	18	5196											
MAP2	4133	genome.wustl.edu	37	chr2	210559188	210559188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctgtagaaagcaaagAggaagaacagatagagaaag	19	5	11	6	0	0	5	0	0	0	5	1	7	1	6	1	1	2	2	1	1	7	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr2:210559188A>T	ENST00000360351.4	+	7	2800	c.2294A>T	c.(2293-2295)gAg>gTg	p.E765V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E761V|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	765					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAAGCAAAGAGGAAGAACAG	0.433																																					Pancreas(27;423 979 28787 29963)												0													62	63	62					2																	210559188		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2294A>T	2.37:g.210559188A>T	ENSP00000353508:p.Glu765Val		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.E765V	ENST00000360351.4	37	c.2294	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013630	0.54468	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26067	1.76;1.76	5.64	5.64	0.86602	MAP2/Tau projection (1);	0.088928	0.48767	D	0.000180	T	0.43545	0.1252	L	0.59436	1.845	0.52099	D	0.999944	D;D	0.58970	0.98;0.984	P;P	0.57679	0.731;0.825	T	0.37526	-0.9702	10	0.87932	D	0	-12.2349	15.8564	0.78979	1.0:0.0:0.0:0.0	.	761;765	P11137-3;P11137	.;MAP2_HUMAN	V	765;761	ENSP00000353508:E765V;ENSP00000392164:E761V	ENSP00000353508:E765V	E	+	2	0	MAP2	210267433	1.000000	0.71417	0.979000	0.43373	0.770000	0.43624	5.742000	0.68646	2.160000	0.67779	0.528000	0.53228	GAG	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.433	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	11	0	A	NM_001039538		210559188	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.978	T	T	210559188	A	T	210559188	3	4	19	1	0	0	0	0	1	0	0	0	9273	304	11	5	2308	5	MAP2	2	210559188	Missense_Mutation	SNP	A	TCGA-IG-A3YB-01A-11D-A247-09	13374886	210559188	32640185	19	5197											
XIRP1	165904	genome.wustl.edu	37	chr3	39227399	39227399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgggcctccctggagtgGgcggggagcctggactgaga	6	6	18	11	1	0	1	0	1	0	1	1	5	1	4	4	6	1	0	4	6	0	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr3:39227399G>T	ENST00000340369.3	-	2	3766	c.3538C>A	c.(3538-3540)Cca>Aca	p.P1180T	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1180					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTGGAGTGGGCGGGGAGCC	0.672																																																	0													27	29	28					3																	39227399		2203	4300	6503	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3538C>A	3.37:g.39227399G>T	ENSP00000343140:p.Pro1180Thr		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.P1180T	ENST00000340369.3	37	c.3538	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	G	0.953	-0.705766	0.03255	.	.	ENSG00000168334	ENST00000340369	T	0.03717	3.83	3.94	2.14	0.27477	.	0.090813	0.44902	U	0.000407	T	0.03348	0.0097	L	0.47716	1.5	0.23050	N	0.998375	P	0.43287	0.802	B	0.35278	0.199	T	0.41556	-0.9502	10	0.59425	D	0.04	.	6.5791	0.22583	0.2211:0.0:0.7789:0.0	.	1180	Q702N8	XIRP1_HUMAN	T	1180	ENSP00000343140:P1180T	ENSP00000343140:P1180T	P	-	1	0	XIRP1	39202403	0.841000	0.29509	0.466000	0.27168	0.015000	0.08874	0.829000	0.27449	0.458000	0.26988	-1.036000	0.02392	CCA	XIRP1	-	NULL	ENSG00000168334		0.672	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1		0	31	0	G	XM_093522		39227399	-1			no_errors	ENST00000340369	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.175	T	T	39227399	G	T	39227399	3	4	19	1	0	0	0	0	1	0	0	0	17478	1232	43	3	1997	3	XIRP1	3	39227399	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		39227399	158795031	20	5198											
LARS2	23395	genome.wustl.edu	37	chr3	45500280	45500280	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacagtgcttgccaatGagcaggtggatgaacatggc	13	8	12	8	0	1	2	1	2	0	0	1	3	1	3	1	3	5	2	1	3	3	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr3:45500280G>T	ENST00000415258.1	+	7	793	c.652G>T	c.(652-654)Gag>Tag	p.E218*	LARS2_ENST00000414984.1_Nonsense_Mutation_p.E175*|LARS2_ENST00000265537.3_Nonsense_Mutation_p.E218*			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	218					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	GCTTGCCAATGAGCAGGTGGA	0.433																																																	0													120	111	114					3																	45500280		2203	4300	6503	SO:0001587	stop_gained	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.652G>T	3.37:g.45500280G>T	ENSP00000408576:p.Glu218*			Nonsense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.E218*	ENST00000415258.1	37	c.652	CCDS2728.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.196116	0.98129	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.891	19.5567	0.95351	0.0:0.0:1.0:0.0	.	.	.	.	X	218;218;175	.	ENSP00000265537:E218X	E	+	1	0	LARS2	45475284	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	9.420000	0.97426	2.711000	0.92665	0.563000	0.77884	GAG	LARS2	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	ENSG00000011376		0.433	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	-	0	28	0	G	NM_015340		45500280	1	tier1	-	no_errors	ENST00000265537	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T	T	45500280	G	T	45500280	4	4	19	1	0	0	0	0	0	1	0	0	8663	1291	45	3	674	3	LARS2	3	45500280	Nonsense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	6272881	45500280	152522150	21	5199											
KIAA1257	57501	genome.wustl.edu	37	chr3	128707650	128707650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggttcttcatcgtccGgcagaaggaaatactcaatg	11	13	9	8	2	3	1	2	0	1	1	5	2	4	2	1	3	1	2	1	3	5	5			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr3:128707650G>A	ENST00000265068.5	-	3	541	c.374C>T	c.(373-375)cCg>cTg	p.P125L	KIAA1257_ENST00000515659.1_Missense_Mutation_p.P13L|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.P125L	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	125										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTCATCGTCCGGCAGAAGGAA	0.388																																																	0													110	113	112					3																	128707650		2027	4196	6223	SO:0001583	missense	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.374C>T	3.37:g.128707650G>A	ENSP00000265068:p.Pro125Leu		Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.P125L	ENST00000265068.5	37	c.374	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449788	0.63290	.	.	ENSG00000114656	ENST00000511438;ENST00000265068;ENST00000515659	.	.	.	5.67	5.67	0.87782	.	0.000000	0.47093	D	0.000260	T	0.67173	0.2865	L	0.32530	0.975	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69435	-0.5146	9	0.87932	D	0	-10.4373	15.2707	0.73699	0.0:0.0:1.0:0.0	.	125;125	Q9ULG3;D6RH05	K1257_HUMAN;.	L	125;125;13	.	ENSP00000265068:P125L	P	-	2	0	KIAA1257	130190340	1.000000	0.71417	0.961000	0.40146	0.225000	0.24961	6.232000	0.72313	2.678000	0.91216	0.650000	0.86243	CCG	KIAA1257	-	NULL	ENSG00000114656		0.388	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	-	0	60	0	G	NM_020741		128707650	-1	tier1	-	no_errors	ENST00000265068	ensembl	human	known	74_37	missense	17.44	71	15	SNP	0.992	A	A	128707650	G	A	128707650	3	1	19	1	0	0	0	0	1	0	0	0	8245	1116	39	1	879	1	KIAA1257	3	128707650	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	83207370	128707650	69314780	22	5200											
MBNL1	4154	genome.wustl.edu	37	chr3	152175980	152175980	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctgcagcagcaggaaaaAtggtatgagaagcttcatta	14	9	11	7	0	1	1	1	1	0	1	2	3	2	2	1	2	4	5	1	2	5	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr3:152175980A>G	ENST00000463374.1	+	8	1621				MBNL1_ENST00000485509.1_Missense_Mutation_p.M322V|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000324196.5_Missense_Mutation_p.M322V|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000282488.7_Intron|RP11-362A9.3_ENST00000463255.1_RNA|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000355460.2_Intron	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1						alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGCAGGAAAAATGGTATGAGA	0.433																																																	0													141	106	118					3																	152175980		2203	4300	6503	SO:0001627	intron_variant	0			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"Zinc fingers, CCCH-type domain containing"	6923	protein-coding gene	gene with protein product		606516	"muscleblind (Drosophila)-like", "muscleblind-like (Drosophila)"	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.1111-1080A>G	3.37:g.152175980A>G			E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.M322V	ENST00000463374.1	37	c.964	CCDS3165.1	3	.	.	.	.	.	.	.	.	.	.	A	5.103	0.204720	0.09704	.	.	ENSG00000152601	ENST00000324196;ENST00000485509	.	.	.	5.92	4.73	0.59995	.	.	.	.	.	T	0.42921	0.1224	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20273	-1.0280	8	0.37606	T	0.19	.	11.8481	0.52395	0.854:0.146:0.0:0.0	.	322	E9PBW7	.	V	322	.	ENSP00000319374:M322V	M	+	1	0	MBNL1	153658670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.073000	0.57570	1.008000	0.39264	0.533000	0.62120	ATG	MBNL1	-	NULL	ENSG00000152601		0.433	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	-	0	49	0	A	NM_021038		152175980	1	tier1	-	no_errors	ENST00000324196	ensembl	human	known	74_37	missense	40.51	47	32	SNP	1.000	G	G	152175980	A	G	152175980	1	3	19	0	1	0	0	0	0	0	0	0	9391	101	4	4		4	MBNL1	3	152175980	Intron	SNP	A	TCGA-IG-A3YB-01A-11D-A247-09	23468330	152175980	45846450	23	5201											
BOD1L	259282	genome.wustl.edu	37	chr4	13590374	13590374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctgcttcaacactgtgaCcgcttatggcttctgcgttg	6	14	10	11	2	3	1	1	1	2	0	3	2	3	1	1	1	3	4	1	1	2	4			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr4:13590374C>A	ENST00000040738.5	-	15	8387	c.8252G>T	c.(8251-8253)gGt>gTt	p.G2751V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2751						nucleus (GO:0005634)	DNA binding (GO:0003677)										AACACTGTGACCGCTTATGGC	0.299																																																	0													59	58	59					4																	13590374		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8252G>T	4.37:g.13590374C>A	ENSP00000040738:p.Gly2751Val		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.G2751V	ENST00000040738.5	37	c.8252	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243288	0.22796	.	.	ENSG00000038219	ENST00000040738	T	0.08807	3.05	4.54	1.72	0.24424	.	0.826719	0.10581	N	0.657890	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	0.999994	B	0.23058	0.079	B	0.21360	0.034	T	0.37596	-0.9699	10	0.62326	D	0.03	-0.772	6.6004	0.22697	0.0:0.66:0.0:0.34	.	2751	Q8NFC6	BOD1L_HUMAN	V	2751	ENSP00000040738:G2751V	ENSP00000040738:G2751V	G	-	2	0	BOD1L	13199472	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.027000	0.13621	0.183000	0.20059	0.655000	0.94253	GGT	BOD1L1	-	NULL	ENSG00000038219		0.299	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	41	0	C	NM_148894		13590374	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	61.90	16	26	SNP	0.000	A	A	13590374	C	A	13590374	3	1	19	1	0	0	0	0	1	0	0	0	1485	507	18	3	951	3	BOD1L	4	13590374	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		13590374	177563902	24	5202											
PCDH7	5099	genome.wustl.edu	37	chr4	30724999	30725000	+	In_Frame_Ins	INS	-	-	GCA																															ttttatgtgaaagaaaacttINSgcagcccaacagccctgtgg																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr4:30724999_30725000insGCA	ENST00000361762.2	+	1	2963_2964	c.1955_1956insGCA	c.(1954-1959)ttgcag>ttGCAgcag	p.653_654insQ	PCDH7_ENST00000543491.1_In_Frame_Ins_p.653_654insQ	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	653	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAGAAAACTTGCAGCCCAACA	0.475																																																	0																																										SO:0001652	inframe_insertion	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1956_1958dupGCA	4.37:g.30725000_30725002dupGCA	ENSP00000355243:p.Gln653_Gln653dup		O60246|O60247|Q4W5C4	In_Frame_Ins	INS	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.654in_frame_insQ	ENST00000361762.2	37	c.1955_1956	CCDS33971.1	4																																																																																			PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000169851		0.475	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1		0	37	0	-	NM_032457, NM_002589		30725000	1	tier1		no_errors	ENST00000543491	ensembl	human	known	74_37	in_frame_ins	36.17	30	17	INS	1.000:0.999	GCA	GCA	30725000	-	GCA	30724999	7	5	19	1	0	1	1	0	0	0	0	0	11555	1821	63	0	1957	0	PCDH7	4	30724999	In_Frame_Ins	INS	-	TCGA-IG-A3YB-01A-11D-A247-09	17134625	30724999	160429277	25	5203											
TLR10	81793	genome.wustl.edu	37	chr4	38776722	38776722	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagtatttagatgcagatGagcaattttctggaaatctg	13	13	10	5	0	2	3	0	1	2	2	2	5	2	4	0	1	2	3	0	1	4	5			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr4:38776722G>C	ENST00000308973.4	-	4	1095	c.490C>G	c.(490-492)Cat>Gat	p.H164D	TLR10_ENST00000508334.1_Missense_Mutation_p.H164D|TLR10_ENST00000361424.2_Missense_Mutation_p.H164D|TLR10_ENST00000506111.1_Missense_Mutation_p.H164D|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	164					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGATGCAGATGAGCAATTTTC	0.403																																																	0													63	66	65					4																	38776722		2202	4299	6501	SO:0001583	missense	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.490C>G	4.37:g.38776722G>C	ENSP00000308925:p.His164Asp		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.H164D	ENST00000308973.4	37	c.490	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	G	11.87	1.769045	0.31320	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.23	3.5	0.40072	.	0.246802	0.27384	N	0.019604	T	0.25606	0.0623	L	0.59436	1.845	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.20874	-1.0262	10	0.59425	D	0.04	.	10.2156	0.43166	0.0712:0.0:0.7928:0.136	.	164	Q9BXR5	TLR10_HUMAN	D	164	ENSP00000308925:H164D;ENSP00000421483:H164D;ENSP00000354459:H164D;ENSP00000424923:H164D	ENSP00000308925:H164D	H	-	1	0	TLR10	38453117	0.999000	0.42202	0.958000	0.39756	0.876000	0.50452	1.976000	0.40579	0.581000	0.29539	0.655000	0.94253	CAT	TLR10	-	pirsf_Toll-like_receptor	ENSG00000174123		0.403	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	-	0	37	0	G			38776722	-1	tier1	-	no_errors	ENST00000308973	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.168	C	C	38776722	G	C	38776722	3	2	19	1	0	0	0	0	1	0	0	0	15997	1290	45	5	1949	5	TLR10	4	38776722	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	8051723	38776722	152377554	26	5204											
GRXCR1	389207	genome.wustl.edu	37	chr4	43032468	43032468	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcaagatgtccatgtttCgaaactgcttcacagactct	11	11	9	10	1	2	2	1	0	1	2	4	4	3	3	1	1	3	3	1	1	2	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr4:43032468C>T	ENST00000399770.2	+	4	784	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	262					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.R262*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCATGTTTCGAAACTGCTT	0.473																																																	1	Substitution - Nonsense(1)	large_intestine(1)											174	164	167					4																	43032468		1945	4152	6097	SO:0001587	stop_gained	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.784C>T	4.37:g.43032468C>T	ENSP00000382670:p.Arg262*			Nonsense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.R262*	ENST00000399770.2	37	c.784	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	26.3	4.728299	0.89390	.	.	ENSG00000215203	ENST00000399770	.	.	.	5.64	5.64	0.86602	.	0.282108	0.28983	U	0.013518	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3762	18.6692	0.91504	0.0:1.0:0.0:0.0	.	.	.	.	X	262	.	ENSP00000382670:R262X	R	+	1	2	GRXCR1	42727225	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	5.588000	0.67517	2.649000	0.89929	0.579000	0.79373	CGA	GRXCR1	-	superfamily_HSP_DnaJ_Cys-rich_dom	ENSG00000215203		0.473	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	-	0	51	0	C	NM_001080476		43032468	1	tier1	-	no_errors	ENST00000399770	ensembl	human	known	74_37	nonsense	11.45	147	19	SNP	1.000	T	T	43032468	C	T	43032468	4	4	19	1	0	0	0	0	0	1	0	0	6839	876	31	1	798	1	GRXCR1	4	43032468	Nonsense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	4255746	43032468	148121808	27	5205											
TEC	7006	genome.wustl.edu	37	chr4	48141032	48141032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgtgtactgatcatccaGaacatacctagagtaagaca	15	10	7	9	0	1	4	1	1	0	3	2	4	2	4	2	0	3	2	2	0	5	5			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr4:48141032G>A	ENST00000381501.3	-	16	1700	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	TEC_ENST00000511471.2_5'Flank	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	515	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGATCATCCAGAACATACCTA	0.403																																																	0													89	84	85					4																	48141032		2203	4300	6503	SO:0001819	synonymous_variant	0			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.1543C>T	4.37:g.48141032G>A			B7ZKZ6|Q3MIS5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.L515	ENST00000381501.3	37	c.1543	CCDS3481.1	4																																																																																			TEC	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135605		0.403	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	HGNC	protein_coding	OTTHUMT00000250492.3		0	15	0	G			48141032	-1			no_errors	ENST00000381501	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.994	A	A	48141032	G	A	48141032	2	1	19	1	0	0	0	0	0	0	0	1	15789	933	33	3		3	TEC	4	48141032	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	5108564	48141032	143013244	28	5206											
PLA2G12A	81579	genome.wustl.edu	37	chr4	110650791	110650791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactggcagagaccgtcctCgcctcccaggaggtccaagg	9	6	12	14	2	0	1	0	0	0	1	4	3	3	2	5	4	1	1	5	4	2	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr4:110650791C>T	ENST00000243501.5	-	1	442	c.175G>A	c.(175-177)Gag>Aag	p.E59K	PLA2G12A_ENST00000502283.1_Missense_Mutation_p.E59K	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	59					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		AGACCGTCCTCGCCTCCCAGG	0.632																																																	0													49	44	46					4																	110650791		2203	4300	6503	SO:0001583	missense	0				CCDS3686.1	4q25	2010-11-24	2004-01-13	2004-01-14	ENSG00000123739	ENSG00000123739	3.1.1.4		18554	protein-coding gene	gene with protein product		611652	"phospholipase A2, group XII"	PLA2G12		11031251	Standard	NM_030821		Approved		uc003hzp.3	Q9BZM1	OTTHUMG00000131915	ENST00000243501.5:c.175G>A	4.37:g.110650791C>T	ENSP00000243501:p.Glu59Lys		Q9BZ89	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom	p.E59K	ENST00000243501.5	37	c.175	CCDS3686.1	4	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045317	0.93685	.	.	ENSG00000123739	ENST00000243501;ENST00000502283	.	.	.	3.97	3.97	0.46021	Phospholipase A2 (1);	0.232816	0.39146	N	0.001459	T	0.30696	0.0773	N	0.14661	0.345	0.41460	D	0.988035	P;P	0.39520	0.676;0.676	B;B	0.35413	0.202;0.202	T	0.29305	-1.0016	9	0.05525	T	0.97	-17.5723	16.6038	0.84823	0.0:1.0:0.0:0.0	.	59;59	Q542Y6;Q9BZM1	.;PG12A_HUMAN	K	59	.	ENSP00000243501:E59K	E	-	1	0	PLA2G12A	110870240	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.702000	0.54800	2.190000	0.69967	0.467000	0.42956	GAG	PLA2G12A	-	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom	ENSG00000123739		0.632	PLA2G12A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLA2G12A	HGNC	protein_coding	OTTHUMT00000254868.3	-	0	38	0	C			110650791	-1	tier1	-	no_errors	ENST00000243501	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	T	T	110650791	C	T	110650791	3	4	19	1	0	0	0	0	1	0	0	0	12029	893	31	1	410	1	PLA2G12A	4	110650791	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	62509759	110650791	80503485	29	5207											
FBXW7	55294	genome.wustl.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505G	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0	45	0	G			153247289	-1	tier1	-	no_errors	ENST00000281708	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	C	C	153247289	G	C	153247289	3	2	19	1	0	0	0	0	1	0	0	0	5791	1116	39	5	622	5	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	42596498	153247289	37906987	30	5208											
SLC6A3	6531	genome.wustl.edu	37	chr5	1403165	1403165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtaggctccgtagtGggggggtctgaaggtcacaa	10	8	17	6	1	2	2	1	1	1	1	3	3	3	2	1	5	0	3	1	5	5	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr5:1403165G>T	ENST00000270349.9	-	13	1766	c.1639C>A	c.(1639-1641)Cac>Aac	p.H547N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.H547N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	547					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCTCCGTAGTGGGGGGGTCTG	0.617																																																	0													64	52	56					5																	1403165		2203	4300	6503	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1639C>A	5.37:g.1403165G>T	ENSP00000270349:p.His547Asn		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.H547N	ENST00000270349.9	37	c.1639	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	-	3.314	-0.140109	0.06669	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.73789	-0.78;-0.78	4.04	3.04	0.35103	.	0.389804	0.25900	N	0.027570	T	0.44498	0.1296	N	0.02539	-0.55	0.27195	N	0.960308	B	0.02656	0.0	B	0.06405	0.002	T	0.29761	-1.0001	10	0.22706	T	0.39	.	7.9778	0.30166	0.0:0.0:0.5615:0.4385	.	547	Q01959	SC6A3_HUMAN	N	547	ENSP00000270349:H547N;ENSP00000399806:H547N	ENSP00000270349:H547N	H	-	1	0	SLC6A3	1456165	0.998000	0.40836	0.979000	0.43373	0.436000	0.31835	3.001000	0.49488	1.815000	0.52974	0.298000	0.19748	CAC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_dopamine	ENSG00000142319		0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0	27	0	G	NM_001044		1403165	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.931	T	T	1403165	G	T	1403165	3	4	19	1	0	0	0	0	1	0	0	0	14730	1348	47	3	235	3	SLC6A3	5	1403165	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		1403165	179512095	31	5209											
MAP1B	4131	genome.wustl.edu	37	chr5	71495635	71495635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctcccacctcagtcagCgagtcagccccatcccagac	9	5	6	21	1	3	1	3	0	0	1	5	2	5	1	7	0	2	0	7	0	0	0	rs543732551		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr5:71495635C>T	ENST00000296755.7	+	5	6751	c.6453C>T	c.(6451-6453)agC>agT	p.S2151S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2151					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTCAGTCAGCGAGTCAGCCC	0.597																																					Melanoma(17;367 822 11631 31730 47712)												0													90	80	84					5																	71495635		2203	4300	6503	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6453C>T	5.37:g.71495635C>T			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.S2151	ENST00000296755.7	37	c.6453	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.597	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	40	0	C	NM_005909		71495635	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.689	T	T	71495635	C	T	71495635	2	4	19	1	0	0	0	0	0	0	0	1	9266	767	27	1		1	MAP1B	5	71495635	Silent	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	70092470	71495635	109419625	32	5210											
PCDHA10	56139	genome.wustl.edu	37	chr5	140236873	140236873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacagcgctctggacCgcgagagggtgtcggcctat	6	8	16	11	4	1	1	0	0	1	1	2	4	1	3	2	4	2	2	2	4	1	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr5:140236873C>T	ENST00000307360.5	+	1	1240	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R414C|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	414	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R414S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCTGGACCGCGAGAGGGT	0.642																																																	2	Substitution - Missense(2)	lung(2)											137	125	129					5																	140236873		2197	4274	6471	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1240C>T	5.37:g.140236873C>T	ENSP00000304234:p.Arg414Cys		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R414C	ENST00000307360.5	37	c.1240	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831543	0.32329	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.59772	4.64;0.24	3.96	2.09	0.27110	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83138	0.5189	H	0.97896	4.1	0.37822	D	0.92843	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.88137	0.2842	9	0.87932	D	0	.	12.4563	0.55706	0.3052:0.6948:0.0:0.0	.	414;414;414	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	C	414	ENSP00000421030:R414C;ENSP00000304234:R414C	ENSP00000304234:R414C	R	+	1	0	PCDHA10	140217057	0.152000	0.22762	0.986000	0.45419	0.296000	0.27459	-0.148000	0.10219	0.402000	0.25451	0.556000	0.70494	CGC	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.642	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	102	0	C	NM_018901		140236873	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	62.09	58	95	SNP	1.000	T	T	140236873	C	T	140236873	3	4	19	1	0	0	0	0	1	0	0	0	11559	652	23	1	1242	1	PCDHA10	5	140236873	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	68741238	140236873	40678387	33	5211											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178541072	178541072	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattggtgctggaggcattGagagggacctccaggggggt	7	8	19	7	0	0	1	0	1	0	1	1	4	1	3	2	7	1	3	2	7	0	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr5:178541072G>C	ENST00000251582.7	-	22	3533	c.3432C>G	c.(3430-3432)ctC>ctG	p.L1144L		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1144					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGGAGGCATTGAGAGGGACCT	0.567																																																	0													197	183	188					5																	178541072		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3432C>G	5.37:g.178541072G>C				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.L1144	ENST00000251582.7	37	c.3432	CCDS4444.1	5																																																																																			ADAMTS2	-	NULL	ENSG00000087116		0.567	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	55	0	G	NM_014244		178541072	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	23.08	70	21	SNP	0.003	C	C	178541072	G	C	178541072	2	2	19	1	0	0	0	0	0	0	0	1	265	1277	45	5		5	ADAMTS2	5	178541072	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	38304199	178541072	2374188	34	5212											
C6orf25	23564	genome.wustl.edu	37	chr6	31692792	31692792	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctagccctcagcaggcccCgccggctgtccacagcggac	7	5	11	18	3	2	0	1	0	1	0	3	1	3	1	5	3	3	2	5	3	1	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr6:31692792C>T	ENST00000375789.2	-	0	1688				C6orf25_ENST00000375810.4_3'UTR|DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Missense_Mutation_p.P229L|C6orf25_ENST00000375805.2_Missense_Mutation_p.R199C			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2						arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CAGCAGGCCCCGCCGGCTGTC	0.587																																																	0													64	67	66					6																	31692792		1511	2709	4220	SO:0001628	intergenic_variant	0			AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212		6.37:g.31692792C>T			A2BEZ7	Missense_Mutation	SNP	NULL	p.R223C	ENST00000375789.2	37	c.667	CCDS4718.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.724|7.724	0.697766|0.697766	0.15106|0.15106	.|.	.|.	ENSG00000204420|ENSG00000204420	ENST00000375809;ENST00000375804|ENST00000375805;ENST00000375814;ENST00000375806	T|T;T;T	0.39406|0.51325	1.08|0.71;0.71;0.71	4.76|4.76	-1.94|-1.94	0.07571|0.07571	.|.	.|1.550420	.|0.04154	.|N	.|0.321788	T|T	0.12305|0.12305	0.0299|0.0299	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B;B|B;B;B	0.17465|0.06786	0.022;0.022|0.001;0.001;0.001	B;B|B;B;B	0.08055|0.06405	0.003;0.003|0.002;0.002;0.001	T|T	0.24368|0.24368	-1.0162|-1.0162	9|10	0.49607|0.87932	T|D	0.09|0	-0.7027|-0.7027	0.265|0.265	0.00224|0.00224	0.3355:0.2646:0.1488:0.2511|0.3355:0.2646:0.1488:0.2511	.|.	185;229|199;179;223	O95866-4;B0V023|O95866-3;O95866-5;O95866	.;.|.;.;G6B_HUMAN	L|C	229;185|199;179;223	ENSP00000364967:P229L|ENSP00000364963:R199C;ENSP00000364972:R179C;ENSP00000364964:R223C	ENSP00000364962:P185L|ENSP00000364963:R199C	P|R	+|+	2|1	0|0	C6orf25|C6orf25	31800771|31800771	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	-1.122000|-1.122000	0.03267|0.03267	-0.184000|-0.184000	0.10567|0.10567	0.655000|0.655000	0.94253|0.94253	CCG|CGC	C6orf25	-	NULL	ENSG00000204420		0.587	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf25	HGNC	protein_coding	OTTHUMT00000076432.2	-	0	11	0	C			31692792	1	tier1	-	no_errors	ENST00000375806	ensembl	human	known	74_37	missense	53.33	7	8	SNP	0.000	T	T	31692792	C	T	31692792	1	4	19	0	1	0	0	0	0	0	0	0	2367	652	23	1		1	C6orf25	6	31692792	IGR	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		31692792	139422275	35	5213											
ZNF318	24149	genome.wustl.edu	37	chr6	43305847	43305847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaggtctctggcctcttCttgttttcatcccaaacagc	6	14	6	15	0	4	0	1	0	3	0	7	0	6	0	3	2	2	1	3	2	1	4			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr6:43305847C>G	ENST00000361428.2	-	10	5966	c.5889G>C	c.(5887-5889)aaG>aaC	p.K1963N	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1963					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGGCCTCTTCTTGTTTTCAT	0.418																																																	0													100	102	101					6																	43305847		2203	4300	6503	SO:0001583	missense	0			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"Zinc fingers, C2H2-type"	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5889G>C	6.37:g.43305847C>G	ENSP00000354964:p.Lys1963Asn		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.K1963N	ENST00000361428.2	37	c.5889	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	3.927	-0.017023	0.07681	.	.	ENSG00000171467	ENST00000361428	T	0.12465	2.68	5.48	-1.53	0.08611	.	0.791679	0.10715	N	0.642464	T	0.01189	0.0039	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.47381	-0.9122	10	0.26408	T	0.33	1.3149	1.9361	0.03337	0.3162:0.3756:0.1579:0.1502	.	1963	Q5VUA4	ZN318_HUMAN	N	1963	ENSP00000354964:K1963N	ENSP00000354964:K1963N	K	-	3	2	ZNF318	43413825	0.000000	0.05858	0.222000	0.23844	0.258000	0.26162	-0.786000	0.04623	0.012000	0.14892	-0.182000	0.12963	AAG	ZNF318	-	NULL	ENSG00000171467		0.418	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	-	0	19	0	C	NM_014345		43305847	-1	tier1	-	no_errors	ENST00000361428	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.000	G	G	43305847	C	G	43305847	3	3	19	1	0	0	0	0	1	0	0	0	17884	912	32	5	954	5	ZNF318	6	43305847	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	11613055	43305847	127809220	36	5214											
POLH	5429	genome.wustl.edu	37	chr6	43565542	43565542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtgattgtggaggaaatGagagcagccatagagaggga	14	6	17	4	0	0	3	0	2	0	2	0	8	0	6	1	3	2	2	1	3	2	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr6:43565542G>A	ENST00000372236.4	+	5	895	c.600G>A	c.(598-600)atG>atA	p.M200I	POLH_ENST00000372226.1_Missense_Mutation_p.M200I|POLH_ENST00000535400.1_Missense_Mutation_p.M138I	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TGGAGGAAATGAGAGCAGCCA	0.433								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																																								0													119	127	124					6																	43565542		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.600G>A	6.37:g.43565542G>A	ENSP00000361310:p.Met200Ile		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N	p.M200I	ENST00000372236.4	37	c.600	CCDS4902.1	6	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297343	0.40694	.	.	ENSG00000170734	ENST00000372236;ENST00000535400;ENST00000372226	T;T;T	0.73575	-0.76;-0.76;-0.76	5.4	5.4	0.78164	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.208574	0.56097	D	0.000022	T	0.26412	0.0645	N	0.00707	-1.245	0.80722	D	1	B;B	0.25351	0.124;0.124	B;B	0.30943	0.122;0.1	T	0.51756	-0.8665	10	0.02654	T	1	-20.1829	18.003	0.89203	0.0:0.0:1.0:0.0	.	138;200	B4DG64;Q9Y253	.;POLH_HUMAN	I	200;138;200	ENSP00000361310:M200I;ENSP00000442102:M138I;ENSP00000361300:M200I	ENSP00000361300:M200I	M	+	3	0	POLH	43673520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.123000	0.77176	2.537000	0.85549	0.573000	0.79308	ATG	POLH	-	pfam_DNA_repair_prot_UmuC-like,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N	ENSG00000170734		0.433	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLH	HGNC	protein_coding	OTTHUMT00000040666.1	-	0	50	0	G	NM_006502		43565542	1	tier1	-	no_errors	ENST00000372236	ensembl	human	known	74_37	missense	17.11	63	13	SNP	1.000	A	A	43565542	G	A	43565542	3	1	19	1	0	0	0	0	1	0	0	0	12241	1290	45	3	614	3	POLH	6	43565542	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	259695	43565542	127549525	37	5215											
MDN1	23195	genome.wustl.edu	37	chr6	90385858	90385858	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcgttaagcctggcaTgccgtgcaagagagcgataa	10	8	14	9	3	0	1	0	0	0	1	0	3	0	1	2	1	6	4	2	1	3	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr6:90385858T>G	ENST00000369393.3	-	77	12723	c.12608A>C	c.(12607-12609)cAt>cCt	p.H4203P	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.H4203P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4203					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGCCTGGCATGCCGTGCAAG	0.458																																																	0													115	102	106					6																	90385858		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12608A>C	6.37:g.90385858T>G	ENSP00000358400:p.His4203Pro		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.H4203P	ENST00000369393.3	37	c.12608	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	16.38	3.107428	0.56291	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03152	4.03;4.03	5.64	4.46	0.54185	.	0.062472	0.64402	D	0.000007	T	0.02083	0.0065	M	0.68317	2.08	0.34304	D	0.684679	P	0.49961	0.93	B	0.41571	0.36	T	0.51560	-0.8690	10	0.36615	T	0.2	.	6.9701	0.24644	0.133:0.0698:0.0:0.7971	.	4203	Q9NU22	MDN1_HUMAN	P	4203	ENSP00000358400:H4203P;ENSP00000413970:H4203P	ENSP00000358400:H4203P	H	-	2	0	MDN1	90442579	1.000000	0.71417	0.950000	0.38849	0.970000	0.65996	3.206000	0.51098	1.041000	0.40125	0.459000	0.35465	CAT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	28	0	T			90385858	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.996	G	G	90385858	T	G	90385858	3	3	19	1	0	0	0	0	1	0	0	0	9453	1464	51	4	4286	4	MDN1	6	90385858	Missense_Mutation	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	46820316	90385858	80729209	38	5216											
FAM184A	79632	genome.wustl.edu	37	chr6	119288068	119288068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtaatcatctgtatatCttctggttttgattctctca	7	21	5	8	0	7	1	2	1	5	0	8	1	7	1	0	1	0	3	0	1	3	8			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr6:119288068C>G	ENST00000338891.7	-	15	3408	c.2965G>C	c.(2965-2967)Gat>Cat	p.D989H	FAM184A_ENST00000521531.1_Missense_Mutation_p.D940H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D820H|FAM184A_ENST00000368475.4_Missense_Mutation_p.D820H|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	989						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATCTGTATATCTTCTGGTTTT	0.299																																																	0													134	122	125					6																	119288068		1797	4065	5862	SO:0001583	missense	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2965G>C	6.37:g.119288068C>G	ENSP00000342604:p.Asp989His		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.D989H	ENST00000338891.7	37	c.2965	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671518	0.88348	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000368472;ENST00000521531	T;T;T;T;T	0.76316	0.18;0.52;1.06;-1.01;0.86	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.87931	0.6302	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.87757	0.2596	10	0.87932	D	0	-24.5243	20.5373	0.99239	0.0:1.0:0.0:0.0	.	940;820;989	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	H	152;989;820;820;50;940	ENSP00000342604:D989H;ENSP00000326608:D820H;ENSP00000357460:D820H;ENSP00000357457:D50H;ENSP00000430442:D940H	ENSP00000342604:D989H	D	-	1	0	FAM184A	119329767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.818000	0.75257	2.857000	0.98124	0.650000	0.86243	GAT	FAM184A	-	NULL	ENSG00000111879		0.299	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	-	0	45	0	C	NM_024581		119288068	-1	tier1	-	no_errors	ENST00000338891	ensembl	human	known	74_37	missense	41.43	41	29	SNP	1.000	G	G	119288068	C	G	119288068	3	3	19	1	0	0	0	0	1	0	0	0	5530	913	32	5	473	5	FAM184A	6	119288068	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	28902210	119288068	51826999	39	5217											
ENPP1	5167	genome.wustl.edu	37	chr6	132190498	132190498	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggattttttttttctcctagGcatggaacaaggcagttgta	9	16	10	6	0	1	0	0	0	1	0	2	2	1	2	1	4	1	4	1	4	4	8			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr6:132190498G>T	ENST00000360971.2	+	13	1294	c.1274G>T	c.(1273-1275)gGc>gTc	p.G425V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	425	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTCTCCTAGGCATGGAACAA	0.318																																					Colon(104;336 1535 5856 11019 33782)												0													35	39	37					6																	132190498		2200	4296	6496	SO:0001630	splice_region_variant	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1274-1G>T	6.37:g.132190498G>T			Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.G425V	ENST00000360971.2	37	c.1274	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415533	0.83449	.	.	ENSG00000197594	ENST00000360971	D	0.98028	-4.67	5.29	5.29	0.74685	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98333	1.0534	9	.	.	.	.	19.2877	0.94085	0.0:0.0:1.0:0.0	.	425;55	P22413;Q7Z3P5	ENPP1_HUMAN;.	V	425	ENSP00000354238:G425V	.	G	+	2	0	ENPP1	132232191	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.608000	0.90895	2.619000	0.88677	0.655000	0.94253	GGC	ENPP1	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000197594		0.318	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	-	0	32	0	G		Missense_Mutation	132190498	1	tier1	-	no_errors	ENST00000360971	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	132190498	G	T	132190498	5	4	19	1	0	0	0	0	0	0	1	0	5145	1217	42	3	1324	3	ENPP1	6	132190498	Splice_Site	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	12902430	132190498	38924569	40	5218											
TMEM184A	202915	genome.wustl.edu	37	chr7	1590564	1590564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcacgatgaggagcaggcGgatgatgtaacgttgctcct	9	8	16	8	3	0	2	0	2	0	0	1	5	1	4	1	4	3	5	1	4	1	2	rs201764681		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr7:1590564G>T	ENST00000297477.5	-	3	590	c.274C>A	c.(274-276)Cgc>Agc	p.R92S		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGGAGCAGGCGGATGATGTAA	0.627																																																	0													93	102	99					7																	1590564		2203	4300	6503	SO:0001583	missense	0				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.274C>A	7.37:g.1590564G>T	ENSP00000297477:p.Arg92Ser		Q8TBQ6	Missense_Mutation	SNP	pfam_Ost-alpha	p.R92S	ENST00000297477.5	37	c.274	CCDS43537.1	7	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862896	0.71949	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.15	5.15	0.70609	.	0.000000	0.85682	U	0.000000	T	0.78935	0.4362	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85964	0.1472	10	0.87932	D	0	-5.0589	18.6128	0.91293	0.0:0.0:1.0:0.0	.	92	Q6ZMB5	T184A_HUMAN	S	92	ENSP00000297477:R92S;ENSP00000325945:R92S;ENSP00000398382:R92S;ENSP00000389092:R92S;ENSP00000403499:R92S	ENSP00000297477:R92S	R	-	1	0	TMEM184A	1557090	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.650000	0.98490	2.396000	0.81511	0.407000	0.27541	CGC	TMEM184A	-	pfam_Ost-alpha	ENSG00000164855		0.627	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4		0	56	0	G	NM_152689		1590564	-1			no_errors	ENST00000297477	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	1590564	G	T	1590564	3	4	19	1	0	0	0	0	1	0	0	0	16151	1116	39	2	995	2	TMEM184A	7	1590564	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		1590564	157548099	41	5219											
ASNS	440	genome.wustl.edu	37	chr7	97481732	97481732	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttctttggttttaggagTattgaagggaaatttctggg	8	17	12	4	0	2	1	0	1	2	0	3	3	3	3	1	4	0	2	1	4	4	7			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr7:97481732T>C	ENST00000394309.3	-	13	1996	c.1525A>G	c.(1525-1527)Act>Gct	p.T509A	ASNS_ENST00000437628.1_Missense_Mutation_p.T426A|ASNS_ENST00000394308.3_Missense_Mutation_p.T509A|ASNS_ENST00000422745.1_Missense_Mutation_p.T488A|ASNS_ENST00000455086.1_Missense_Mutation_p.T426A|ASNS_ENST00000444334.1_Missense_Mutation_p.T488A|ASNS_ENST00000175506.4_Missense_Mutation_p.T509A	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	509	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTTTTAGGAGTATTGAAGGGA	0.433																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													163	158	159					7																	97481732		2203	4300	6503	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1525A>G	7.37:g.97481732T>C	ENSP00000377846:p.Thr509Ala		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.T509A	ENST00000394309.3	37	c.1525	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	T	14.91	2.675104	0.47781	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.86;0.85;0.86	5.23	4.07	0.47477	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.050881	0.85682	D	0.000000	T	0.48169	0.1485	M	0.84846	2.72	0.42318	D	0.992249	P	0.37122	0.583	B	0.30646	0.118	T	0.54596	-0.8270	10	0.66056	D	0.02	-12.9074	9.9396	0.41572	0.0:0.0:0.3295:0.6705	.	509	P08243	ASNS_HUMAN	A	509;509;426;509;488;426;488	ENSP00000175506:T509A;ENSP00000377846:T509A;ENSP00000414379:T426A;ENSP00000377845:T509A;ENSP00000414901:T488A;ENSP00000408472:T426A;ENSP00000406994:T488A	ENSP00000175506:T509A	T	-	1	0	ASNS	97319668	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.433000	0.59929	0.925000	0.37094	0.459000	0.35465	ACT	ASNS	-	NULL	ENSG00000070669		0.433	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	-	0	53	0	T	NM_001673, NM_183356		97481732	-1	tier1	-	no_errors	ENST00000175506	ensembl	human	known	74_37	missense	57.35	28	39	SNP	1.000	C	C	97481732	T	C	97481732	3	2	19	1	0	0	0	0	1	0	0	0	1049	1638	57	4	164	4	ASNS	7	97481732	Missense_Mutation	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	95891168	97481732	61656931	42	5220											
SLC13A4	26266	genome.wustl.edu	37	chr7	135406264	135406264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatcagcacgtaagcacacGaggcctcctgcaaggcaagg	12	4	12	13	3	1	0	1	0	0	0	2	2	2	0	2	3	3	5	2	3	3	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr7:135406264G>A	ENST00000354042.4	-	2	796	c.107C>T	c.(106-108)tCg>tTg	p.S36L		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	36					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GTAAGCACACGAGGCCTCCTG	0.602																																																	0													50	41	44					7																	135406264		2203	4300	6503	SO:0001583	missense	0			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.107C>T	7.37:g.135406264G>A	ENSP00000297282:p.Ser36Leu		A4D1Q4|Q8N631	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.S36L	ENST00000354042.4	37	c.107	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258102	0.39896	.	.	ENSG00000164707	ENST00000354042	T	0.02656	4.21	5.17	5.17	0.71159	.	0.471664	0.22073	N	0.065006	T	0.02767	0.0083	N	0.25890	0.77	0.09310	N	0.999995	P	0.38455	0.632	B	0.34385	0.181	T	0.51004	-0.8760	10	0.34782	T	0.22	.	14.0474	0.64712	0.0:0.0:1.0:0.0	.	36	Q9UKG4	S13A4_HUMAN	L	36	ENSP00000297282:S36L	ENSP00000297282:S36L	S	-	2	0	SLC13A4	135056804	0.979000	0.34478	0.034000	0.17996	0.581000	0.36288	6.696000	0.74598	2.706000	0.92434	0.557000	0.71058	TCG	SLC13A4	-	pfam_Na/sul_symport	ENSG00000164707		0.602	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	HGNC	protein_coding	OTTHUMT00000340558.1	-	0	24	0	G	NM_012450		135406264	-1	tier1	-	no_errors	ENST00000354042	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.057	A	A	135406264	G	A	135406264	3	1	19	1	0	0	0	0	1	0	0	0	14439	1059	37	1	1833	1	SLC13A4	7	135406264	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	37924532	135406264	23732399	43	5221											
C8orf86	389649	genome.wustl.edu	37	chr8	38386079	38386079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggactggctcaggcagtctCtaaggctcctgccaactcca	8	8	10	15	1	2	0	1	0	1	0	5	1	4	1	3	4	2	3	3	4	2	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr8:38386079C>G	ENST00000358138.1	-	1	101	c.77G>C	c.(76-78)aGa>aCa	p.R26T	C8orf86_ENST00000437935.2_Missense_Mutation_p.R26T	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	26										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CAGGCAGTCTCTAAGGCTCCT	0.557																																																	0													86	79	81					8																	38386079		2203	4300	6503	SO:0001583	missense	0			BC137511	CCDS6108.1	8p12-p11.23	2009-03-03			ENSG00000196166	ENSG00000196166			33774	protein-coding gene	gene with protein product							Standard	NM_207412		Approved	FLJ43582	uc003xlx.1	Q6ZUL3	OTTHUMG00000163992	ENST00000358138.1:c.77G>C	8.37:g.38386079C>G	ENSP00000350856:p.Arg26Thr		A4QPB7	Missense_Mutation	SNP	NULL	p.R26T	ENST00000358138.1	37	c.77	CCDS6108.1	8	.	.	.	.	.	.	.	.	.	.	C	9.181	1.023555	0.19433	.	.	ENSG00000196166	ENST00000358138;ENST00000437935	T;T	0.56611	0.49;0.45	3.98	-0.965	0.10323	.	.	.	.	.	T	0.25382	0.0617	N	0.08118	0	0.09310	N	1	P	0.41910	0.764	B	0.33295	0.161	T	0.13656	-1.0501	9	0.87932	D	0	.	7.1026	0.25346	0.0:0.428:0.0:0.572	.	26	Q6ZUL3	CH086_HUMAN	T	26	ENSP00000350856:R26T;ENSP00000389615:R26T	ENSP00000350856:R26T	R	-	2	0	C8orf86	38505236	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.050000	0.11904	-0.100000	0.12241	0.655000	0.94253	AGA	C8orf86	-	NULL	ENSG00000196166		0.557	C8orf86-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf86	HGNC	protein_coding	OTTHUMT00000376668.1	-	0	39	0	C	NM_207412		38386079	-1	tier1	-	no_errors	ENST00000358138	ensembl	human	known	74_37	missense	51.85	25	28	SNP	0.000	G	G	38386079	C	G	38386079	3	3	19	1	0	0	0	0	1	0	0	0	2449	913	32	5	606	5	C8orf86	8	38386079	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		38386079	107977943	44	5222											
ST18	9705	genome.wustl.edu	37	chr8	53126769	53126769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgctaactcaccctcggTtcctttagagcgagtacgca	8	11	9	13	3	1	1	1	0	0	1	3	2	2	1	2	1	4	5	2	1	3	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr8:53126769T>A	ENST00000276480.7	-	7	732	c.49A>T	c.(49-51)Acc>Tcc	p.T17S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	17					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCACCCTCGGTTCCTTTAGAG	0.463																																																	0													219	173	188					8																	53126769		2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.49A>T	8.37:g.53126769T>A	ENSP00000276480:p.Thr17Ser		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.T17S	ENST00000276480.7	37	c.49	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	T	12.37	1.918238	0.33815	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.43688	0.99;0.94	5.49	4.33	0.51752	.	0.432641	0.23183	N	0.050987	T	0.30572	0.0769	L	0.29908	0.895	0.26377	N	0.976799	B	0.06786	0.001	B	0.09377	0.004	T	0.15263	-1.0443	10	0.33141	T	0.24	-0.6774	11.4119	0.49931	0.0:0.0707:0.0:0.9293	.	17	O60284	ST18_HUMAN	S	17	ENSP00000276480:T17S;ENSP00000428521:T17S	ENSP00000276480:T17S	T	-	1	0	ST18	53289322	1.000000	0.71417	0.980000	0.43619	0.823000	0.46562	2.497000	0.45354	1.032000	0.39892	0.533000	0.62120	ACC	ST18	-	NULL	ENSG00000147488		0.463	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	69	0	T			53126769	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	29.90	68	29	SNP	1.000	A	A	53126769	T	A	53126769	3	1	19	1	0	0	0	0	1	0	0	0	15259	1725	60	5	3174	5	ST18	8	53126769	Missense_Mutation	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	14740690	53126769	93237253	45	5223											
RP1	6101	genome.wustl.edu	37	chr8	55539064	55539064	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccagaaaaaacgtaaaggGgataaagtgaaagcaagtgc	20	4	12	5	1	0	2	0	1	0	1	0	3	0	3	1	2	4	2	1	2	9	2	rs369939931		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr8:55539064G>T	ENST00000220676.1	+	4	2770	c.2622G>T	c.(2620-2622)ggG>ggT	p.G874G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	874					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACGTAAAGGGGATAAAGTGA	0.353																																					Colon(91;1014 1389 7634 14542 40420)												0													36	39	38					8																	55539064		2195	4297	6492	SO:0001819	synonymous_variant	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2622G>T	8.37:g.55539064G>T				Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G874	ENST00000220676.1	37	c.2622	CCDS6160.1	8																																																																																			RP1	-	NULL	ENSG00000104237		0.353	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	30	0	G	NM_006269		55539064	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	silent	14.67	64	11	SNP	0.153	T	T	55539064	G	T	55539064	2	4	19	1	0	0	0	0	0	0	0	1	13577	1219	43	3		3	RP1	8	55539064	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	2412295	55539064	90824958	46	5224											
PREX2	80243	genome.wustl.edu	37	chr8	68972969	68972969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaggcctgaggaaggcGtgcacttgggacaagcatta	11	8	13	9	1	1	1	1	1	0	0	1	3	1	3	1	4	2	2	1	4	3	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr8:68972969G>T	ENST00000288368.4	+	11	1571	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	432	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.V432M(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAGGAAGGCGTGCACTTGGG	0.358																																																	1	Substitution - Missense(1)	pancreas(1)											111	113	112					8																	68972969		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1294G>T	8.37:g.68972969G>T	ENSP00000288368:p.Val432Leu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V432L	ENST00000288368.4	37	c.1294	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.209776	0.95069	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.25579	1.79	5.69	5.69	0.88448	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.69463	2.115	0.80722	D	1	P;D;D	0.61697	0.947;0.99;0.987	P;P;P	0.62740	0.863;0.906;0.904	T	0.49194	-0.8965	10	0.87932	D	0	.	19.817	0.96573	0.0:0.0:1.0:0.0	.	432;432;432	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	L	432	ENSP00000288368:V432L	ENSP00000288368:V432L	V	+	1	0	PREX2	69135523	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.062000	0.89475	2.678000	0.91216	0.655000	0.94253	GTG	PREX2	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000046889		0.358	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1		0	19	0	G	NM_025170		68972969	1			no_errors	ENST00000288368	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	68972969	G	T	68972969	3	4	19	1	0	0	0	0	1	0	0	0	12519	1145	40	2	1336	2	PREX2	8	68972969	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	13433905	68972969	77391053	47	5225											
INTS8	55656	genome.wustl.edu	37	chr8	95841223	95841223	+	Frame_Shift_Del	DEL	A	A	-																															tatgaatcaaatgcaacaggAaaaagagctaacagaaaaca																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr8:95841223delA	ENST00000523731.1	+	5	672	c.539delA	c.(538-540)gaafs	p.E180fs	INTS8_ENST00000447247.1_Frame_Shift_Del_p.E180fs	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	180					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATGCAACAGGAAAAAGAGCTA	0.323																																																	0													111	105	107					8																	95841223		2202	4300	6502	SO:0001589	frameshift_variant	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.539delA	8.37:g.95841223delA	ENSP00000430338:p.Glu180fs		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Frame_Shift_Del	DEL	NULL	p.E182fs	ENST00000523731.1	37	c.539	CCDS34925.1	8																																																																																			INTS8	-	NULL	ENSG00000164941		0.323	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1		0	34	0	A	NM_017864		95841223	1	tier1		no_errors	ENST00000523731	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	95841223	A	-	95841223	7	5	19	1	0	1	0	1	0	0	0	0	7811	246	9	0	557	0	INTS8	8	95841223	Frame_Shift_Del	DEL	A	TCGA-IG-A3YB-01A-11D-A247-09	26868254	95841223	50522799	48	5226											
CSMD3	114788	genome.wustl.edu	37	chr8	113277777	113277777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacataatcatctccatatCtcagtccattggctggtata	11	13	5	12	0	3	0	2	0	2	0	6	0	4	0	3	2	0	2	3	2	4	5			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr8:113277777C>G	ENST00000297405.5	-	60	9795	c.9551G>C	c.(9550-9552)aGa>aCa	p.R3184T	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3114T|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3144T|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3015T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3184	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTCCATATCTCAGTCCATT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													197	165	176					8																	113277777		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9551G>C	8.37:g.113277777C>G	ENSP00000297405:p.Arg3184Thr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R3184T	ENST00000297405.5	37	c.9551	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466393	0.84425	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.75	5.75	0.90469	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.81128	0.4758	M	0.85373	2.75	0.52501	D	0.999952	D;D;D	0.67145	0.995;0.996;0.971	D;D;P	0.72625	0.962;0.978;0.674	T	0.77313	-0.2634	10	0.21540	T	0.41	.	19.9273	0.97107	0.0:1.0:0.0:0.0	.	3015;3184;3144	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3144;3184;2454;3015;3114	ENSP00000345799:R3144T;ENSP00000297405:R3184T;ENSP00000341558:R2454T;ENSP00000412263:R3015T;ENSP00000343124:R3114T	ENSP00000297405:R3184T	R	-	2	0	CSMD3	113346953	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.968000	0.70413	2.718000	0.92993	0.591000	0.81541	AGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	48	0	C	NM_052900		113277777	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	44.74	42	34	SNP	1.000	G	G	113277777	C	G	113277777	3	3	19	1	0	0	0	0	1	0	0	0	3955	913	32	5	1620	5	CSMD3	8	113277777	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	17436554	113277777	33086245	49	5227											
TAF1L	138474	genome.wustl.edu	37	chr9	32630449	32630449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcttcctcacccagcCtaccttggccctggcacatc	7	9	7	18	0	2	1	1	0	1	1	4	1	3	1	5	2	2	1	5	2	1	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr9:32630449C>T	ENST00000242310.4	-	1	5218	c.5129G>A	c.(5128-5130)aGg>aAg	p.R1710K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1710					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTCACCCAGCCTACCTTGGCC	0.502																																																	0													175	161	166					9																	32630449		2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5129G>A	9.37:g.32630449C>T	ENSP00000418379:p.Arg1710Lys		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1710K	ENST00000242310.4	37	c.5129	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	4.514	0.095438	0.08681	.	.	ENSG00000122728	ENST00000242310	T	0.07444	3.19	0.149	0.149	0.14863	.	.	.	.	.	T	0.02649	0.0080	N	0.03608	-0.345	0.22017	N	0.999417	B	0.16802	0.019	B	0.14023	0.01	T	0.45673	-0.9245	9	0.02654	T	1	.	6.0152	0.19598	0.0:0.9995:0.0:5.0E-4	.	1710	Q8IZX4	TAF1L_HUMAN	K	1710	ENSP00000418379:R1710K	ENSP00000418379:R1710K	R	-	2	0	TAF1L	32620449	1.000000	0.71417	0.129000	0.21949	0.115000	0.19883	1.675000	0.37555	0.192000	0.20272	0.195000	0.17529	AGG	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.502	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0	122	0	C			32630449	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	65.03	57	106	SNP	0.996	T	T	32630449	C	T	32630449	3	4	19	1	0	0	0	0	1	0	0	0	15570	681	24	3	355	3	TAF1L	9	32630449	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		32630449	108582982	50	5228											
PAX5	5079	genome.wustl.edu	37	chr9	37006509	37006509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggactggttggttgggtgGctgctgtacttttgtccgga	3	15	17	6	1	0	0	0	0	0	0	1	2	1	2	1	6	2	5	1	6	1	5			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr9:37006509G>T	ENST00000358127.4	-	4	510	c.436C>A	c.(436-438)Cca>Aca	p.P146T	PAX5_ENST00000520154.1_Missense_Mutation_p.P146T|PAX5_ENST00000520281.1_Missense_Mutation_p.P146T|PAX5_ENST00000377847.2_Missense_Mutation_p.P146T|RP11-297B17.3_ENST00000509911.2_RNA|PAX5_ENST00000377852.2_Missense_Mutation_p.P146T|PAX5_ENST00000523145.1_Missense_Mutation_p.P38T|PAX5_ENST00000523241.1_Missense_Mutation_p.P146T|PAX5_ENST00000446742.1_Missense_Mutation_p.P80T|PAX5_ENST00000414447.1_Missense_Mutation_p.P146T|PAX5_ENST00000377853.2_Missense_Mutation_p.P146T|PAX5_ENST00000522003.1_Missense_Mutation_p.P38T	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	146					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(40)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		TGGTTGGGTGGCTGCTGTACT	0.413			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"																																			Dom	yes		9	9p13	5079	paired box gene 5 (B-cell lineage specific activator protein)		L	40	Unknown(40)	haematopoietic_and_lymphoid_tissue(40)											189	184	186					9																	37006509		2203	4300	6503	SO:0001583	missense	0				CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"Paired boxes", "Homeoboxes / PRD class"	8619	protein-coding gene	gene with protein product	"B-cell lineage specific activator"	167414	"paired box gene 5 (B-cell lineage specific activator protein)", "paired box gene 5 (B-cell lineage specific activator)"			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.436C>A	9.37:g.37006509G>T	ENSP00000350844:p.Pro146Thr		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.P146T	ENST00000358127.4	37	c.436	CCDS6607.1	9	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131166	0.56828	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D;D	0.99706	-4.05;-4.05;-4.05;-4.55;-4.53;-4.45;-6.47;-1.82;-2.41;-4.46;-4.54	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.119717	0.56097	D	0.000022	D	0.99635	0.9866	M	0.72894	2.215	0.80722	D	1	D;B;D;D;B;B;D;D;D	0.89917	0.993;0.34;1.0;0.993;0.042;0.039;0.993;0.993;0.993	D;B;D;D;B;B;D;D;D	0.91635	0.928;0.043;0.999;0.928;0.011;0.018;0.928;0.928;0.928	D	0.98278	1.0507	10	0.54805	T	0.06	.	19.3463	0.94363	0.0:0.0:1.0:0.0	.	146;146;80;146;146;146;146;146;146	C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;PAX5_HUMAN	T	146;38;146;146;146;146;146;80;38;38;146;146	ENSP00000350844:P146T;ENSP00000367084:P146T;ENSP00000367083:P146T;ENSP00000429637:P146T;ENSP00000429291:P146T;ENSP00000430773:P146T;ENSP00000404687:P80T;ENSP00000429359:P38T;ENSP00000429197:P38T;ENSP00000412188:P146T;ENSP00000367078:P146T	ENSP00000350844:P146T	P	-	1	0	PAX5	36996509	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.089000	0.94137	2.639000	0.89480	0.650000	0.86243	CCA	PAX5	-	NULL	ENSG00000196092		0.413	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX5	HGNC	protein_coding	OTTHUMT00000052433.1		0	52	0	G			37006509	-1			no_errors	ENST00000358127	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	37006509	G	T	37006509	3	4	19	1	0	0	0	0	1	0	0	0	11521	1203	42	3	767	3	PAX5	9	37006509	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	4376060	37006509	104206922	51	5229											
ASTN2	23245	genome.wustl.edu	37	chr9	119188344	119188344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctactcaccctctccagtCgccgtagaatcaggtgggcc	7	8	11	15	2	3	1	2	0	1	1	5	1	3	1	4	3	1	2	4	3	3	2	rs200117563		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr9:119188344C>A	ENST00000313400.4	-	23	3906	c.3806G>T	c.(3805-3807)cGa>cTa	p.R1269L	ASTN2_ENST00000361477.3_Missense_Mutation_p.R321L|ASTN2_ENST00000373996.3_Missense_Mutation_p.R1265L|ASTN2_ENST00000288520.5_Missense_Mutation_p.R370L|ASTN2_ENST00000341734.4_Missense_Mutation_p.R321L|ASTN2_ENST00000361209.2_Missense_Mutation_p.R1218L			O75129	ASTN2_HUMAN	astrotactin 2	1269					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCTCTCCAGTCGCCGTAGAAT	0.532																																																	0													37	36	37					9																	119188344		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3806G>T	9.37:g.119188344C>A	ENSP00000314038:p.Arg1269Leu		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.R1269L	ENST00000313400.4	37	c.3806		9	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303241	0.81136	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.16073	2.78;2.78;2.37;2.39;2.6;2.81;2.39	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.996;0.996;0.998;0.997;0.965;0.996;0.996	D;D;D;D;P;D;D	0.80764	0.988;0.988;0.994;0.987;0.828;0.988;0.992	T	0.07597	-1.0764	10	0.72032	D	0.01	-24.1634	20.1821	0.98206	0.0:1.0:0.0:0.0	.	321;321;1218;1269;1265;321;370	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	L	1269;1265;370;321;992;1218;321	ENSP00000314038:R1269L;ENSP00000363108:R1265L;ENSP00000288520:R370L;ENSP00000339925:R321L;ENSP00000363098:R992L;ENSP00000354504:R1218L;ENSP00000355116:R321L	ENSP00000288520:R370L	R	-	2	0	ASTN2	118228165	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.957000	0.76019	2.761000	0.94854	0.655000	0.94253	CGA	ASTN2	-	NULL	ENSG00000148219		0.532	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	31	0	C	NM_014010		119188344	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A	A	119188344	C	A	119188344	3	1	19	1	0	0	0	0	1	0	0	0	1066	884	31	2	258	2	ASTN2	9	119188344	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	82181835	119188344	22025087	52	5230											
SPTAN1	6709	genome.wustl.edu	37	chr9	131370264	131370264	+	Frame_Shift_Del	DEL	G	G	-																															tgatattcttgaccaggagcGtgcagacctggagaaggcct																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr9:131370264delG	ENST00000372731.4	+	33	4390	c.4280delG	c.(4279-4281)cgtfs	p.R1427fs	SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.R1427fs|SPTAN1_ENST00000372739.3_Frame_Shift_Del_p.R1427fs	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1427					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACCAGGAGCGTGCAGACCTG	0.527																																					NSCLC(120;833 1744 2558 35612 37579)												0													95	101	99					9																	131370264		2203	4300	6503	SO:0001589	frameshift_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4280delG	9.37:g.131370264delG	ENSP00000361816:p.Arg1427fs		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R1427fs	ENST00000372731.4	37	c.4280	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.527	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1		0	64	0	G	NM_003127		131370264	1	tier1		no_errors	ENST00000358161	ensembl	human	known	74_37	frame_shift_del	12.16	65	9	DEL	1.000	-	-	131370264	G	-	131370264	7	5	19	1	0	1	0	1	0	0	0	0	15164	1145	40	0	4406	0	SPTAN1	9	131370264	Frame_Shift_Del	DEL	G	TCGA-IG-A3YB-01A-11D-A247-09	12181920	131370264	9843167	53	5231											
ZER1	10444	genome.wustl.edu	37	chr9	131517732	131517732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggcaagaagatgtccGgatgtagccgcagggtctcc	8	7	15	11	3	1	2	0	0	1	2	3	3	2	3	3	3	1	4	3	3	3	1	rs540575103		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr9:131517732G>T	ENST00000291900.2	-	2	519	c.113C>A	c.(112-114)cCg>cAg	p.P38Q	ZER1_ENST00000494461.1_Intron	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	38					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.P38L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAAGATGTCCGGATGTAGCCG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											138	122	128					9																	131517732		2203	4300	6503	SO:0001583	missense	0			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"ZYG11 cell cycle regulator family"	30960	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 60", "zyg-11 homolog B (C. elegans)-like", "zer-1 homolog (C. elegans)"	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.113C>A	9.37:g.131517732G>T	ENSP00000291900:p.Pro38Gln		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.P38Q	ENST00000291900.2	37	c.113	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.126458	0.94429	.	.	ENSG00000160445	ENST00000291900;ENST00000414921;ENST00000427848	T	0.42900	0.96	5.51	5.51	0.81932	.	0.053208	0.85682	D	0.000000	T	0.46946	0.1419	L	0.29908	0.895	0.80722	D	1	D	0.57571	0.98	P	0.54460	0.753	T	0.24119	-1.0169	10	0.34782	T	0.22	-15.6742	18.7539	0.91825	0.0:0.0:1.0:0.0	.	38	Q7Z7L7	ZER1_HUMAN	Q	38	ENSP00000291900:P38Q	ENSP00000291900:P38Q	P	-	2	0	ZER1	130557553	1.000000	0.71417	0.972000	0.41901	0.970000	0.65996	9.148000	0.94652	2.745000	0.94114	0.655000	0.94253	CCG	ZER1	-	NULL	ENSG00000160445		0.587	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1		0	31	0	G	NM_006336		131517732	-1			no_errors	ENST00000291900	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	131517732	G	T	131517732	3	4	19	1	0	0	0	0	1	0	0	0	17673	1116	39	2	2247	2	ZER1	9	131517732	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	147468	131517732	9695699	54	5232											
LCN6	158062	genome.wustl.edu	37	chr9	139642865	139642865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgctcagggtccagtcttCccaaccacacggcctgggcc	6	7	10	18	1	2	0	1	0	1	0	4	0	4	0	6	3	2	1	6	3	1	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr9:139642865C>G	ENST00000341206.4	-	1	115	c.71G>C	c.(70-72)gGa>gCa	p.G24A	LCN6_ENST00000476567.1_5'Flank|LCN6_ENST00000480584.1_5'Flank|LCN6_ENST00000435202.1_Missense_Mutation_p.G14A|LCN6_ENST00000471509.1_5'Flank	NM_198946.2	NP_945184.1	P62502	LCN6_HUMAN	lipocalin 6	24					single fertilization (GO:0007338)	extracellular region (GO:0005576)				lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GTCCAGTCTTCCCAACCACAC	0.682																																					Melanoma(172;919 2704 37090 48131)												0													53	51	52					9																	139642865		2198	4300	6498	SO:0001583	missense	0			AF303084	CCDS7005.1	9q34.3	2012-10-08			ENSG00000267206	ENSG00000267206		"Lipocalins"	17337	protein-coding gene	gene with protein product		609379					Standard	NM_198946		Approved		uc004ciy.2	P62502	OTTHUMG00000020941	ENST00000341206.4:c.71G>C	9.37:g.139642865C>G	ENSP00000339621:p.Gly24Ala		B0QZ80|Q71SF6	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.G24A	ENST00000341206.4	37	c.71	CCDS7005.1	9	.	.	.	.	.	.	.	.	.	.	C	0.819	-0.749248	0.03065	.	.	ENSG00000204003	ENST00000341206	T	0.10860	2.83	2.94	2.94	0.34122	Calycin-like (1);Calycin (1);	.	.	.	.	T	0.16171	0.0389	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.07635	-1.0762	9	0.09338	T	0.73	-11.4818	9.5947	0.39567	0.0:1.0:0.0:0.0	.	24	P62502	LCN6_HUMAN	A	24	ENSP00000339621:G24A	ENSP00000339621:G24A	G	-	2	0	LCN6	138762686	0.802000	0.28943	0.967000	0.41034	0.252000	0.25951	1.220000	0.32491	1.960000	0.56953	0.556000	0.70494	GGA	LCN6	-	superfamily_Calycin-like	ENSG00000267206		0.682	LCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN6	HGNC	protein_coding	OTTHUMT00000055107.3	-	0	65	0	C	NM_198946		139642865	-1	tier1	-	no_errors	ENST00000341206	ensembl	human	known	74_37	missense	72.63	26	69	SNP	0.972	G	G	139642865	C	G	139642865	3	3	19	1	0	0	0	0	1	0	0	0	8713	855	30	5	440	5	LCN6	9	139642865	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	8125133	139642865	1570566	55	5233											
MRC1	4360	genome.wustl.edu	37	chr10	18155626	18155626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccaccgaagcccacgaCgactcccgaacccaaatgtc	12	3	6	20	4	0	0	0	0	0	0	2	4	1	0	6	0	2	0	6	0	3	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr10:18155626C>T	ENST00000239761.3	+	12	2022	c.1919C>T	c.(1918-1920)aCg>aTg	p.T640M	RP11-457D2.3_ENST00000442231.1_RNA	NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	640					receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AAGCCCACGACGACTCCCGAA	0.493																																					GBM(115;1153 1594 28187 28781 35884)												0													2	2	2					10																	18155626		1355	2366	3721	SO:0001583	missense	0			J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.1919C>T	10.37:g.18155626C>T	ENSP00000239761:p.Thr640Met		A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.T640M	ENST00000239761.3	37	c.1919	CCDS7123.1	10	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359781	0.41801	.	.	ENSG00000120586	ENST00000239761	T	0.18174	2.23	4.25	4.25	0.50352	.	0.109035	0.38720	U	0.001593	T	0.35335	0.0928	M	0.64997	1.995	0.51767	D	0.999935	D	0.89917	1.0	D	0.74348	0.983	T	0.03259	-1.1055	10	0.42905	T	0.14	-21.0101	11.4469	0.50129	0.0:0.9117:0.0:0.0883	.	640	P22897	MRC1_HUMAN	M	640	ENSP00000239761:T640M	ENSP00000239761:T640M	T	+	2	0	MRC1	18195632	0.999000	0.42202	0.182000	0.23118	0.211000	0.24417	4.427000	0.59888	2.184000	0.69523	0.436000	0.28706	ACG	MRC1	-	NULL	ENSG00000120586		0.493	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC1	HGNC	protein_coding	OTTHUMT00000047057.1	-	0	19	0	C	NM_002438		18155626	1	tier1	-	no_errors	ENST00000239761	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.987	T	T	18155626	C	T	18155626	3	4	19	1	0	0	0	0	1	0	0	0	9794	536	19	1	6456	1	MRC1	10	18155626	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		18155626	117379121	56	5234											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37507906	37507906	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtttattttgttttatttAggtttctcacactcatgaaa	11	20	5	5	0	2	1	2	1	1	0	3	1	2	1	0	1	0	3	0	1	5	9			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr10:37507906A>T	ENST00000602533.1	+	34	3198		c.e34-1		ANKRD30A_ENST00000361713.1_Splice_Site|ANKRD30A_ENST00000374660.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTTTTATTTAGGTTTCTCAC	0.303																																																	0													22	20	21					10																	37507906		1781	4002	5783	SO:0001630	splice_region_variant	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3100-1A>T	10.37:g.37507906A>T			Q5W025	Splice_Site	SNP	-	e34-2	ENST00000602533.1	37	c.3100-2		10	.	.	.	.	.	.	.	.	.	.	a	4.742	0.138058	0.09083	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	.	.	.	2.65	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5253	0.33302	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30A	37547912	1.000000	0.71417	0.953000	0.39169	0.020000	0.10135	5.468000	0.66743	1.083000	0.41159	0.381000	0.24937	.	ANKRD30A	-	-	ENSG00000148513		0.303	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	10	0	A	NM_052997	Intron	37507906	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	splice_site	40.74	16	11	SNP	0.822	T	T	37507906	A	T	37507906	5	4	19	1	0	0	0	0	0	0	1	0	658	434	15	5	3232	5	ANKRD30A	10	37507906	Splice_Site	SNP	A	TCGA-IG-A3YB-01A-11D-A247-09	19352280	37507906	98026841	57	5235											
NDST2	8509	genome.wustl.edu	37	chr10	75563440	75563440	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacttcagagtcaaagtaGgtggcacttttttcaaatag	14	12	8	7	0	3	1	3	0	0	1	3	1	3	1	0	2	1	2	0	2	5	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr10:75563440G>T	ENST00000309979.6	-	11	2590	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	NDST2_ENST00000299641.4_Silent_p.T555T|RP11-574K11.31_ENST00000603027.1_Silent_p.T678T|ZSWIM8-AS1_ENST00000456638.2_RNA			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	678	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGTCAAAGTAGGTGGCACTTT	0.512																																																	0													126	135	132					10																	75563440		2203	4300	6503	SO:0001819	synonymous_variant	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.2034C>A	10.37:g.75563440G>T			Q2TB32|Q59H89	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.T678	ENST00000309979.6	37	c.2034	CCDS7335.1	10																																																																																			NDST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000166507		0.512	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	0	70	0	G	NM_003635		75563440	-1	tier1	-	no_errors	ENST00000309979	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	T	T	75563440	G	T	75563440	2	4	19	1	0	0	0	0	0	0	0	1	10295	987	35	3		3	NDST2	10	75563440	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	38055534	75563440	59971307	58	5236											
MYOF	26509	genome.wustl.edu	37	chr10	95111302	95111302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccacaggagagaaaatGcttcgtcctaaaaattcatc	15	10	6	10	1	2	1	2	0	0	1	5	3	3	2	2	1	1	1	2	1	5	4			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr10:95111302G>T	ENST00000359263.4	-	34	3689	c.3690C>A	c.(3688-3690)agC>agA	p.S1230R	MYOF_ENST00000358334.5_Missense_Mutation_p.S1217R|MYOF_ENST00000371502.4_Missense_Mutation_p.S1230R|MYOF_ENST00000371501.4_Missense_Mutation_p.S1230R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1230	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.S1230S(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGAGAAAATGCTTCGTCCTA	0.433																																																	1	Substitution - coding silent(1)	endometrium(1)											108	105	106					10																	95111302		1880	4106	5986	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3690C>A	10.37:g.95111302G>T	ENSP00000352208:p.Ser1230Arg		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.S1230R	ENST00000359263.4	37	c.3690	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352625	0.61293	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.96	3.84	0.44239	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.040551	0.85682	D	0.000000	T	0.72748	0.3499	M	0.76574	2.34	0.47153	D	0.999335	P;D	0.57257	0.896;0.979	P;P	0.61533	0.745;0.89	T	0.70669	-0.4808	10	0.25106	T	0.35	-22.734	4.2857	0.10853	0.528:0.0:0.472:0.0	.	1217;1230	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	R	1217;1230;1230;1230	ENSP00000351094:S1217R;ENSP00000352208:S1230R;ENSP00000360556:S1230R;ENSP00000360557:S1230R	ENSP00000351094:S1217R	S	-	3	2	MYOF	95101292	0.041000	0.20044	1.000000	0.80357	0.969000	0.65631	0.377000	0.20552	1.444000	0.47605	0.650000	0.86243	AGC	MYOF	-	superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000138119		0.433	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2		0	25	0	G	NM_013451		95111302	-1			no_errors	ENST00000359263	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.942	T	T	95111302	G	T	95111302	3	4	19	1	0	0	0	0	1	0	0	0	10127	1310	46	3	2579	3	MYOF	10	95111302	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	19547862	95111302	40423445	59	5237											
IGF2	3481	genome.wustl.edu	37	chr11	2161524	2161524	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggtctggggaaacCatctcctggagagtttgaac	9	11	14	7	0	2	2	0	1	2	1	3	4	2	3	2	5	2	1	2	5	2	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr11:2161524C>G	ENST00000381389.1	-	1	160				IGF2-AS_ENST00000381361.3_RNA|IGF2_ENST00000416167.2_5'Flank|IGF2_ENST00000300632.5_Intron|IGF2_ENST00000434045.2_Start_Codon_SNP_p.M1I|IGF2-AS_ENST00000381363.4_RNA|IGF2-AS_ENST00000445504.2_RNA|IGF2_ENST00000418738.2_5'Flank|IGF2_ENST00000381406.4_5'Flank			P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CTGGGGAAACCATCTCCTGGA	0.537																																																	0													27	29	29					11																	2161524		1567	3581	5148	SO:0001627	intron_variant	0			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000381389.1:c.5+562G>C	11.37:g.2161524C>G			B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.M1I	ENST00000381389.1	37	c.3	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389735	0.42410	.	.	ENSG00000167244	ENST00000434045	D	0.91792	-2.91	1.94	0.971	0.19698	.	.	.	.	.	D	0.85712	0.5760	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78414	-0.2213	8	0.87932	D	0	.	3.8218	0.08839	0.0:0.7549:0.0:0.2451	.	1	C9JAF2	.	I	1	ENSP00000391826:M1I	ENSP00000391826:M1I	M	-	3	0	IGF2	2118100	0.927000	0.31430	0.996000	0.52242	0.991000	0.79684	0.064000	0.14437	0.352000	0.24053	0.484000	0.47621	ATG	IGF2	-	NULL	ENSG00000167244		0.537	IGF2-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate|CCDS	protein_coding	IGF2	HGNC	protein_coding	OTTHUMT00000026386.1	-	0	76	0	C	NM_000612		2161524	-1	tier1	-	no_errors	ENST00000434045	ensembl	human	known	74_37	missense	50.00	29	29	SNP	0.998	G	G	2161524	C	G	2161524	1	3	19	0	1	0	0	0	0	0	0	0	7599	594	21	5		5	IGF2	11	2161524	Intron	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		2161524	132844992	60	5238											
OR52K1	390036	genome.wustl.edu	37	chr11	4510932	4510932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatgcaccgtgtagccCgccatgctgcccctcgtgtc	5	9	10	17	3	1	0	1	0	0	0	3	0	1	0	5	0	4	3	5	0	1	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr11:4510932C>T	ENST00000307632.3	+	1	824	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R268S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCGTGTAGCCCGCCATGCTGC	0.507																																																	1	Substitution - Missense(1)	lung(1)											213	192	199					11																	4510932		2201	4298	6499	SO:0001583	missense	0			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"GPCR / Class A : Olfactory receptors"	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.802C>T	11.37:g.4510932C>T	ENSP00000302422:p.Arg268Cys		B9EH54|Q6IFK5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R268C	ENST00000307632.3	37	c.802	CCDS31352.1	11	.	.	.	.	.	.	.	.	.	.	C	3.130	-0.178651	0.06380	.	.	ENSG00000196778	ENST00000307632	T	0.37411	1.2	4.5	3.59	0.41128	GPCR, rhodopsin-like superfamily (1);	0.429234	0.17846	N	0.160035	T	0.28896	0.0717	L	0.42529	1.33	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.25328	-1.0135	10	0.87932	D	0	.	6.8973	0.24262	0.1728:0.7359:0.0:0.0912	.	268	Q8NGK4	O52K1_HUMAN	C	268	ENSP00000302422:R268C	ENSP00000302422:R268C	R	+	1	0	OR52K1	4467508	0.000000	0.05858	0.723000	0.30687	0.076000	0.17211	-0.593000	0.05740	1.235000	0.43724	0.411000	0.27672	CGC	OR52K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196778		0.507	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K1	HGNC	protein_coding	OTTHUMT00000385846.1	-	0	58	0	C	NM_001005171		4510932	1	tier1	-	no_errors	ENST00000307632	ensembl	human	known	74_37	missense	35.44	51	28	SNP	0.001	T	T	4510932	C	T	4510932	3	4	19	1	0	0	0	0	1	0	0	0	11162	652	23	1	804	1	OR52K1	11	4510932	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	2349408	4510932	130495584	61	5239											
APBB1	322	genome.wustl.edu	37	chr11	6423342	6423342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccgacgccccacacgCggatgctgatgatgggttgg	6	6	14	15	5	0	2	0	2	0	0	0	4	0	3	4	3	1	2	4	3	0	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr11:6423342C>T	ENST00000609360.1	-	8	1451	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H	APBB1_ENST00000608645.1_Missense_Mutation_p.R192H|APBB1_ENST00000389906.2_Missense_Mutation_p.R451H|APBB1_ENST00000608655.1_Missense_Mutation_p.R231H|APBB1_ENST00000608704.1_Missense_Mutation_p.R192H|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000299402.6_Missense_Mutation_p.R451H|APBB1_ENST00000530885.1_Missense_Mutation_p.R231H|APBB1_ENST00000608394.1_Missense_Mutation_p.R192H|APBB1_ENST00000311051.3_Missense_Mutation_p.R451H|APBB1_ENST00000609331.1_Missense_Mutation_p.R216H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	451	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCCCACACGCGGATGCTGAT	0.582																																					GBM(147;1810 2556 5672 39622)												0													122	99	107					11																	6423342		2201	4296	6497	SO:0001583	missense	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1352G>A	11.37:g.6423342C>T	ENSP00000477213:p.Arg451His		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.R451H	ENST00000609360.1	37	c.1352		11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392409	0.83011	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000002	T	0.47358	0.1441	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.69824	0.927;0.956;0.966	T	0.54296	-0.8315	10	0.87932	D	0	-15.7101	14.3225	0.66496	0.0:1.0:0.0:0.0	.	216;231;451	F5H1C5;B7Z2Y0;O00213-2	.;.;.	H	451;451;451;300;192;216;231;192	ENSP00000299402:R451H;ENSP00000311912:R451H;ENSP00000374556:R451H;ENSP00000433338:R231H;ENSP00000437114:R192H	ENSP00000299402:R451H	R	-	2	0	APBB1	6379918	1.000000	0.71417	0.670000	0.29842	0.839000	0.47603	5.486000	0.66856	2.212000	0.71576	0.467000	0.42956	CGC	APBB1	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000166313		0.582	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	-	0	53	0	C	NM_001164		6423342	-1	tier1	-	no_errors	ENST00000389906	ensembl	human	known	74_37	missense	32.84	45	22	SNP	0.997	T	T	6423342	C	T	6423342	3	4	19	1	0	0	0	0	1	0	0	0	759	768	27	1	808	1	APBB1	11	6423342	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	1912410	6423342	128583174	62	5240											
MS4A8B	83661	genome.wustl.edu	37	chr11	60470906	60470906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctccatcatggcgaCggttctcgtaggggaatacc	7	9	12	13	4	2	0	1	0	1	0	5	2	3	1	3	5	1	3	3	5	3	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr11:60470906C>T	ENST00000300226.2	+	3	478	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	92						integral component of membrane (GO:0016021)											ATCATGGCGACGGTTCTCGTA	0.552																																																	0													151	139	143					11																	60470906		2203	4300	6503	SO:0001583	missense	0			AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"membrane-spanning 4-domains, subfamily A, member 8B"	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.275C>T	11.37:g.60470906C>T	ENSP00000300226:p.Thr92Met		Q8TCA5	Missense_Mutation	SNP	pfam_CD20-like	p.T92M	ENST00000300226.2	37	c.275	CCDS7990.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.36|11.36	1.615604|1.615604	0.28801|0.28801	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000525458|ENST00000300226;ENST00000529752	.|T;T	.|0.02301	.|4.35;4.35	3.62|3.62	2.6|2.6	0.31112|0.31112	.|.	.|0.472817	.|0.19530	.|N	.|0.112065	T|T	0.03739|0.03739	0.0106|0.0106	L|L	0.41573|0.41573	1.285|1.285	0.09310|0.09310	N|N	1|1	.|D;D	.|0.69078	.|0.964;0.997	.|P;P	.|0.53102	.|0.557;0.718	T|T	0.45818|0.45818	-0.9235|-0.9235	5|10	.|0.31617	.|T	.|0.26	-14.2382|-14.2382	7.6502|7.6502	0.28344|0.28344	0.2522:0.7478:0.0:0.0|0.2522:0.7478:0.0:0.0	.|.	.|92;92	.|E9PQE1;Q9BY19	.|.;M4A8B_HUMAN	W|M	74|92	.|ENSP00000300226:T92M;ENSP00000436857:T92M	.|ENSP00000300226:T92M	R|T	+|+	1|2	2|0	MS4A8B|MS4A8B	60227482|60227482	0.001000|0.001000	0.12720|0.12720	0.011000|0.011000	0.14972|0.14972	0.004000|0.004000	0.04260|0.04260	0.804000|0.804000	0.27098|0.27098	1.745000|1.745000	0.51790|0.51790	0.491000|0.491000	0.48974|0.48974	CGG|ACG	MS4A8	-	pfam_CD20-like	ENSG00000166959		0.552	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A8	HGNC	protein_coding	OTTHUMT00000395605.1	-	0	83	0	C			60470906	1	tier1	-	no_errors	ENST00000300226	ensembl	human	known	74_37	missense	13.16	99	15	SNP	0.004	T	T	60470906	C	T	60470906	3	4	19	1	0	0	0	0	1	0	0	0	9905	536	19	1	281	1	MS4A8B	11	60470906	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	54047564	60470906	74535610	63	5241											
LRP5	4041	genome.wustl.edu	37	chr11	68174018	68174018	+	Frame_Shift_Del	DEL	G	G	-																															acccgtgtgcggacaggaacGgggggtgcagccacctgtgc																								rs80358313		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr11:68174018delG	ENST00000294304.7	+	9	1934	c.1828delG	c.(1828-1830)gggfs	p.G611fs		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	611	EGF-like 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACAGGAACGGGGGGTGCAG	0.622																																																	0			GRCh37	CM053295|CM053961	LRP5	M	rs80358313						71	68	69					11																	68174018		2200	4294	6494	SO:0001589	frameshift_variant	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1828delG	11.37:g.68174018delG	ENSP00000294304:p.Gly611fs		Q96TD6|Q9UES7|Q9UP66	Frame_Shift_Del	DEL	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C612fs	ENST00000294304.7	37	c.1828	CCDS8181.1	11																																																																																			LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom	ENSG00000162337		0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1		0	64	0	G	NM_002335		68174018	1	tier1		no_errors	ENST00000294304	ensembl	human	known	74_37	frame_shift_del	17.14	58	12	DEL	1.000	-	-	68174018	G	-	68174018	7	5	19	1	0	1	0	1	0	0	0	0	8995	1116	39	0	1862	0	LRP5	11	68174018	Frame_Shift_Del	DEL	G	TCGA-IG-A3YB-01A-11D-A247-09	7703112	68174018	66832498	64	5242											
ARHGEF12	23365	genome.wustl.edu	37	chr11	120317153	120317153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaggatctgcatcgcCactatatccaaactatgcaa	12	11	6	12	1	1	1	0	1	1	0	4	2	3	2	3	1	3	2	3	1	5	4			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr11:120317153C>T	ENST00000397843.2	+	17	1553	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.H360Y|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.H444Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	463	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCTGCATCGCCACTATATCCA	0.368			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													95	88	90					11																	120317153		1888	4132	6020	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1387C>T	11.37:g.120317153C>T	ENSP00000380942:p.His463Tyr		O15086|Q6P526	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H444Y	ENST00000397843.2	37	c.1330	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204601	0.79127	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.82255	-1.59;-1.59;-1.59	6.17	6.17	0.99709	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.125177	0.35677	N	0.003059	D	0.82393	0.5027	L	0.36672	1.1	0.37752	D	0.926	B;B;B	0.33238	0.403;0.244;0.288	B;B;B	0.40038	0.173;0.212;0.317	T	0.81604	-0.0857	10	0.52906	T	0.07	-6.4076	20.8794	0.99867	0.0:1.0:0.0:0.0	.	360;444;463	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	Y	463;444;360	ENSP00000380942:H463Y;ENSP00000349056:H444Y;ENSP00000432984:H360Y	ENSP00000349056:H444Y	H	+	1	0	ARHGEF12	119822363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.972000	0.76110	2.941000	0.99782	0.655000	0.94253	CAC	ARHGEF12	-	pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam	ENSG00000196914		0.368	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	-	0	11	0	C	NM_015313		120317153	1	tier1	-	no_errors	ENST00000356641	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T	T	120317153	C	T	120317153	3	4	19	1	0	0	0	0	1	0	0	0	897	594	21	3	1453	3	ARHGEF12	11	120317153	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	52143135	120317153	14689363	65	5243											
TECTA	7007	genome.wustl.edu	37	chr11	121000704	121000704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagttttatcgaagcCgctccaggtgcggcatcatc	8	11	10	12	3	2	0	2	0	0	0	5	1	3	0	2	2	3	4	2	2	3	2	rs139132568		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr11:121000704C>T	ENST00000392793.1	+	10	2996	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C	TECTA_ENST00000264037.2_Missense_Mutation_p.R909C			O75443	TECTA_HUMAN	tectorin alpha	909	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTATCGAAGCCGCTCCAGGTG	0.562																																																	0								C	CYS/ARG	0,4406		0,0,2203	65	63	63		2725	5.8	1	11	dbSNP_134	63	4,8594	3.7+/-12.6	0,4,4295	yes	missense	TECTA	NM_005422.2	180	0,4,6498	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	909/2156	121000704	4,13000	2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2725C>T	11.37:g.121000704C>T	ENSP00000376543:p.Arg909Cys			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.R909C	ENST00000392793.1	37	c.2725	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095954	0.76870	0.0	4.65E-4	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.77620	-1.11;-1.11	5.78	5.78	0.91487	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.060505	0.64402	D	0.000001	D	0.86802	0.6020	M	0.75085	2.285	0.53688	D	0.999972	D	0.89917	1.0	D	0.67231	0.95	D	0.87515	0.2442	10	0.66056	D	0.02	.	14.8062	0.69959	0.144:0.856:0.0:0.0	.	909	O75443	TECTA_HUMAN	C	909	ENSP00000376543:R909C;ENSP00000264037:R909C	ENSP00000264037:R909C	R	+	1	0	TECTA	120505914	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.404000	0.59735	2.742000	0.94016	0.650000	0.86243	CGC	TECTA	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000109927		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1		0	31	0	C	NM_005422		121000704	1			no_errors	ENST00000264037	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	121000704	C	T	121000704	3	4	19	1	0	0	0	0	1	0	0	0	15794	652	23	1	2759	1	TECTA	11	121000704	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	683551	121000704	14005812	66	5244											
FKBP4	2288	genome.wustl.edu	37	chr12	2909017	2909017	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtttttcacccctccagcTatgcttttggcagtgttggg	4	16	11	10	0	1	0	1	0	0	0	2	0	2	0	3	2	2	5	3	2	1	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr12:2909017T>C	ENST00000001008.4	+	6	860	c.673T>C	c.(673-675)Tat>Cat	p.Y225H	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	225	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CCCCTCCAGCTATGCTTTTGG	0.433																																																	0													104	109	107					12																	2909017		2203	4300	6503	SO:0001630	splice_region_variant	0			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"Tetratricopeptide (TTC) repeat domain containing"	3720	protein-coding gene	gene with protein product		600611	"FK506-binding protein 4 (59kD)"			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.672-1T>C	12.37:g.2909017T>C			D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.Y225H	ENST00000001008.4	37	c.673	CCDS8512.1	12	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792249	0.70452	.	.	ENSG00000004478	ENST00000001008	D	0.85861	-2.04	5.38	4.24	0.50183	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.121009	0.64402	D	0.000016	D	0.91307	0.7259	M	0.85373	2.75	0.80722	D	1	D	0.55605	0.972	D	0.63703	0.917	D	0.90808	0.4699	10	0.56958	D	0.05	-12.2745	10.1696	0.42902	0.0:0.0789:0.0:0.9211	.	225	Q02790	FKBP4_HUMAN	H	225	ENSP00000001008:Y225H	ENSP00000001008:Y225H	Y	+	1	0	FKBP4	2779278	1.000000	0.71417	0.997000	0.53966	0.717000	0.41224	5.388000	0.66249	0.893000	0.36288	0.459000	0.35465	TAT	FKBP4	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000004478		0.433	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	-	0	26	0	T		Missense_Mutation	2909017	1	tier1	-	no_errors	ENST00000001008	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	C	C	2909017	T	C	2909017	5	2	19	1	0	0	0	0	0	0	1	0	5932	1536	53	4	695	4	FKBP4	12	2909017	Splice_Site	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09		2909017	130942878	67	5245											
GPR84	53831	genome.wustl.edu	37	chr12	54757553	54757553	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtcacagccaccaccAccccccagctaactgcaaca	11	5	5	20	0	1	0	1	0	0	0	1	0	1	0	7	0	6	2	7	0	2	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr12:54757553A>C	ENST00000551809.1	-	1	718	c.83T>G	c.(82-84)gTg>gGg	p.V28G	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.V28G			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCACCACCACCCCCCAGCT	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											124	98	107					12																	54757553		2203	4300	6503	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.83T>G	12.37:g.54757553A>C	ENSP00000450310:p.Val28Gly		B6V9G7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V28G	ENST00000551809.1	37	c.83	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550790	0.27739	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37235	1.21;1.21	4.81	3.65	0.41850	.	0.771724	0.11153	N	0.593925	T	0.25531	0.0621	N	0.24115	0.695	0.22500	N	0.999047	B	0.02656	0.0	B	0.01281	0.0	T	0.18241	-1.0343	10	0.33141	T	0.24	-1.0996	10.4225	0.44359	0.8356:0.1644:0.0:0.0	.	28	Q9NQS5	GPR84_HUMAN	G	28	ENSP00000267015:V28G;ENSP00000450310:V28G	ENSP00000267015:V28G	V	-	2	0	GPR84	53043820	0.002000	0.14202	0.064000	0.19789	0.977000	0.68977	1.744000	0.38268	0.908000	0.36671	0.454000	0.30748	GTG	GPR84	-	prints_GPCR_Rhodpsn	ENSG00000139572		0.567	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	-	0	48	0	A			54757553	-1	tier1	-	no_errors	ENST00000267015	ensembl	human	known	74_37	missense	72.34	13	34	SNP	0.003	C	C	54757553	A	C	54757553	3	2	19	1	0	0	0	0	1	0	0	0	6740	159	6	4	1111	4	GPR84	12	54757553	Missense_Mutation	SNP	A	TCGA-IG-A3YB-01A-11D-A247-09	51848536	54757553	79094342	68	5246											
DNAH10	196385	genome.wustl.edu	37	chr12	124364180	124364180	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagtgggcttctgtttcaaGgtacaacagcacataggcag	12	10	11	8	0	2	0	1	0	1	0	2	0	2	0	0	3	3	5	0	3	5	5			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr12:124364180G>T	ENST00000409039.3	+	49	8137		c.e49-1			NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10						microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGTTTCAAGGTACAACAGC	0.443																																																	0													219	202	207					12																	124364180		1954	4145	6099	SO:0001630	splice_region_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8113-1G>T	12.37:g.124364180G>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Splice_Site	SNP	-	e49-1	ENST00000409039.3	37	c.8113-1	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928324	0.52759	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.89	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4109	0.83712	0.0:0.0:0.8673:0.1327	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH10	122930133	1.000000	0.71417	0.954000	0.39281	0.004000	0.04260	9.466000	0.97665	1.480000	0.48289	-0.181000	0.13052	.	DNAH10	-	-	ENSG00000197653		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	79	0	G		Intron	124364180	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	splice_site	5.68	83	5	SNP	1.000	T	T	124364180	G	T	124364180	5	4	19	1	0	0	0	0	0	0	1	0	4612	1014	35	3	8306	3	DNAH10	12	124364180	Splice_Site	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	69606627	124364180	9487715	69	5247											
RASA3	22821	genome.wustl.edu	37	chr13	114793367	114793367	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggcgtaggggtcacattgCccattcacgatggggaggcc	7	8	16	10	2	2	0	2	0	0	0	2	2	2	1	2	6	1	1	2	6	1	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr13:114793367C>A	ENST00000334062.7	-	6	607	c.486G>T	c.(484-486)ggG>ggT	p.G162G	RASA3_ENST00000542651.1_Missense_Mutation_p.A131S|RASA3_ENST00000389544.4_Silent_p.G130G	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	162	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GGTCACATTGCCCATTCACGA	0.637																																																	0													136	102	113					13																	114793367		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.486G>T	13.37:g.114793367C>A			A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A131S	ENST00000334062.7	37	c.391	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	C	9.469	1.095166	0.20471	.	.	ENSG00000185989	ENST00000542651	T	0.19105	2.17	4.38	1.03	0.20045	.	.	.	.	.	T	0.11067	0.0270	.	.	.	0.21527	N	0.999651	.	.	.	.	.	.	T	0.30650	-0.9971	5	.	.	.	.	0.3898	0.00408	0.1916:0.2208:0.1903:0.3973	.	.	.	.	S	131	ENSP00000439008:A131S	.	A	-	1	0	RASA3	113811469	0.697000	0.27767	0.997000	0.53966	0.021000	0.10359	-0.358000	0.07641	-0.002000	0.14469	-0.333000	0.08304	GCA	RASA3	-	NULL	ENSG00000185989		0.637	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	-	0	44	0	C	NM_007368		114793367	-1	tier1	-	no_errors	ENST00000542651	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.997	A	A	114793367	C	A	114793367	2	1	19	1	0	0	0	0	0	0	0	1	13107	726	26	3		3	RASA3	13	114793367	Silent	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		114793367	376511	70	5248											
NDRG2	57447	genome.wustl.edu	37	chr14	21487296	21487296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgatatcacctccaCgctcaaagttcaggtctcgg	9	10	11	11	2	4	2	3	2	1	0	6	2	5	2	2	3	0	2	2	3	2	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr14:21487296C>T	ENST00000556147.1	-	11	1680	c.740G>A	c.(739-741)cGt>cAt	p.R247H	NDRG2_ENST00000555158.1_Missense_Mutation_p.R233H|NDRG2_ENST00000397858.1_Missense_Mutation_p.R247H|NDRG2_ENST00000554104.1_Missense_Mutation_p.R160H|NDRG2_ENST00000360463.3_Missense_Mutation_p.R233H|NDRG2_ENST00000397847.2_Missense_Mutation_p.R247H|NDRG2_ENST00000403829.3_Missense_Mutation_p.R243H|NDRG2_ENST00000397853.3_Missense_Mutation_p.R247H|NDRG2_ENST00000397855.3_Missense_Mutation_p.R204H|NDRG2_ENST00000350792.3_Missense_Mutation_p.R233H|NDRG2_ENST00000397856.3_Missense_Mutation_p.R233H|NDRG2_ENST00000553503.1_Missense_Mutation_p.R233H|NDRG2_ENST00000298684.5_Missense_Mutation_p.R204H|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000298687.5_Missense_Mutation_p.R247H|NDRG2_ENST00000397851.2_Missense_Mutation_p.R247H|NDRG2_ENST00000397844.2_Missense_Mutation_p.R233H|NDRG2_ENST00000554143.1_Missense_Mutation_p.R233H			Q9UN36	NDRG2_HUMAN	NDRG family member 2	247					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCACCTCCACGCTCAAAGTT	0.453																																																	0													100	92	94					14																	21487296		2203	4300	6503	SO:0001583	missense	0			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.740G>A	14.37:g.21487296C>T	ENSP00000451712:p.Arg247His		B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	SNP	pfam_Ndr	p.R247H	ENST00000556147.1	37	c.740	CCDS9565.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.154515|5.154515	0.94686|0.94686	.|.	.|.	ENSG00000165795|ENSG00000165795	ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397847;ENST00000397856;ENST00000397855;ENST00000298684;ENST00000397844;ENST00000403829;ENST00000556008;ENST00000556366;ENST00000556974;ENST00000555026;ENST00000553867|ENST00000553593	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.19532|.	2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14;2.14|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80396|0.80396	0.4615|0.4615	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.993;0.994;0.988;0.988;0.997;0.999|.	T|T	0.82612|0.82612	-0.0371|-0.0371	10|5	0.87932|.	D|.	0|.	-9.6496|-9.6496	16.42|16.42	0.83755|0.83755	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	243;247;233;228;247;204|.	B4DE86;Q9UN36-3;Q9UN36-5;G3V3N4;Q9UN36;Q9UN36-4|.	.;.;.;.;NDRG2_HUMAN;.|.	H|M	247;233;228;247;160;233;233;247;233;247;233;247;247;233;204;204;233;243;233;160;233;233;247|163	ENSP00000298687:R247H;ENSP00000344620:R233H;ENSP00000380956:R247H;ENSP00000452216:R160H;ENSP00000452038:R233H;ENSP00000452306:R233H;ENSP00000380951:R247H;ENSP00000353649:R233H;ENSP00000451712:R247H;ENSP00000452006:R233H;ENSP00000380949:R247H;ENSP00000380945:R247H;ENSP00000380954:R233H;ENSP00000380953:R204H;ENSP00000298684:R204H;ENSP00000380943:R233H;ENSP00000385889:R243H;ENSP00000451966:R233H;ENSP00000452413:R160H;ENSP00000452362:R233H;ENSP00000451274:R233H;ENSP00000450691:R247H|.	ENSP00000298684:R204H|.	R|V	-|-	2|1	0|0	NDRG2|NDRG2	20557136|20557136	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	4.768000|4.768000	0.62293|0.62293	2.735000|2.735000	0.93741|0.93741	0.563000|0.563000	0.77884|0.77884	CGT|GTG	NDRG2	-	pfam_Ndr	ENSG00000165795		0.453	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NDRG2	HGNC	protein_coding	OTTHUMT00000411717.1	-	0	42	0	C			21487296	-1	tier1	-	no_errors	ENST00000298687	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	T	T	21487296	C	T	21487296	3	4	19	1	0	0	0	0	1	0	0	0	10291	536	19	1	399	1	NDRG2	14	21487296	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		21487296	85862244	71	5249											
AP1G2	8906	genome.wustl.edu	37	chr14	24031497	24031499	+	Splice_Site	DEL	TTG	TTG	-																															gggctgggaccccttcttacTtgttgtccccacagaggcga																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr14:24031497_24031499delTTG	ENST00000308724.5	-	15	2381_2383	c.1626_1628delCAA	c.(1624-1629)aacaac>aac	p.542_543NN>N	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank|AP1G2_ENST00000397120.3_Splice_Site_p.542_543NN>N|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	542					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCCTTCTTACTTGTTGTCCCCAC	0.576											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001630	splice_region_variant	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1628+1CAA>-	14.37:g.24031500_24031502delTTG		768	D3DS51|O75504	In_Frame_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.N543in_frame_del	ENST00000308724.5	37	c.1628_1626	CCDS9602.1	14																																																																																			AP1G2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000213983		0.576	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4		0	31	0	TTG	NM_003917	In_Frame_Del	24031499	-1	tier1		no_errors	ENST00000308724	ensembl	human	known	74_37	in_frame_del	17.95	32	7	DEL	1.000:1.000:0.997	-	-	24031499	TTG	-	24031497	8	5	19	1	0	1	0	1	0	0	1	0	733	1623	56	0	757	0	AP1G2	14	24031497	Splice_Site	DEL	TTG	TCGA-IG-A3YB-01A-11D-A247-09	2544201	24031497	83318043	72	5250											
AP1G2	8906	genome.wustl.edu	37	chr14	24035498	24035498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaccttcttgcgcaCgtagggactgggctgcagga	7	9	12	13	2	2	0	1	0	2	0	3	2	2	2	2	3	2	4	2	3	1	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr14:24035498C>T	ENST00000308724.5	-	3	1215	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.V154M	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	154					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TTCTTGCGCACGTAGGGACTG	0.602																																																	0													67	65	66					14																	24035498		2203	4300	6503	SO:0001583	missense	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.460G>A	14.37:g.24035498C>T	ENSP00000312442:p.Val154Met		D3DS51|O75504	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.V154M	ENST00000308724.5	37	c.460	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431327	0.62844	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189	T;T;T	0.48201	0.82;0.82;0.82	5.01	4.05	0.47172	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.189742	0.44285	D	0.000473	T	0.59088	0.2168	M	0.64676	1.99	0.80722	D	1	P;D	0.59767	0.924;0.986	P;P	0.61132	0.661;0.884	T	0.61855	-0.6977	10	0.87932	D	0	-14.8633	10.1973	0.43062	0.0:0.8951:0.0:0.1049	.	154;154	G3V532;O75843	.;AP1G2_HUMAN	M	154	ENSP00000312442:V154M;ENSP00000380309:V154M;ENSP00000452153:V154M	ENSP00000312442:V154M	V	-	1	0	AP1G2	23105338	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	0.690000	0.25451	2.595000	0.87683	0.561000	0.74099	GTG	AP1G2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000213983		0.602	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	HGNC	protein_coding	OTTHUMT00000071812.4	-	0	44	0	C	NM_003917		24035498	-1	tier1	-	no_errors	ENST00000308724	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.995	T	T	24035498	C	T	24035498	3	4	19	1	0	0	0	0	1	0	0	0	733	536	19	1	1973	1	AP1G2	14	24035498	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	4001	24035498	83314042	73	5251											
SEC23A	10484	genome.wustl.edu	37	chr14	39532558	39532558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcaaaatatatggctaaGgttgtagtgggactaagtcc	13	11	10	7	0	1	0	1	0	0	0	2	1	2	1	2	3	0	3	2	3	7	6			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr14:39532558G>A	ENST00000307712.6	-	12	1885	c.1368C>T	c.(1366-1368)acC>acT	p.T456T	SEC23A_ENST00000553925.1_5'Flank|SEC23A_ENST00000536508.1_Silent_p.T330T|SEC23A_ENST00000537403.1_Silent_p.T254T|SEC23A_ENST00000545328.2_Silent_p.T427T	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	456					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATATGGCTAAGGTTGTAGTGG	0.368																																																	0													121	105	110					14																	39532558		2203	4300	6503	SO:0001819	synonymous_variant	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1368C>T	14.37:g.39532558G>A			B2R5P4|B3KXI2|Q8NE16	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.T456	ENST00000307712.6	37	c.1368	CCDS9668.1	14																																																																																			SEC23A	-	pfam_Sec23_24_beta_S	ENSG00000100934		0.368	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	-	0	57	0	G			39532558	-1	tier1	-	no_errors	ENST00000307712	ensembl	human	known	74_37	silent	25.00	42	14	SNP	0.926	A	A	39532558	G	A	39532558	2	1	19	1	0	0	0	0	0	0	0	1	14036	987	35	3		3	SEC23A	14	39532558	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	15497060	39532558	67816982	74	5252											
C14orf39	317761	genome.wustl.edu	37	chr14	60936309	60936309	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttcttcaattcggatGaacttttggtaagattgctg	8	18	8	7	1	3	2	1	1	2	1	4	3	3	3	0	2	2	2	0	2	3	8			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr14:60936309G>T	ENST00000321731.3	-	8	776	c.617C>A	c.(616-618)tCa>tAa	p.S206*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	206					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CAATTCGGATGAACTTTTGGT	0.244																																																	0													57	55	55					14																	60936309		2198	4268	6466	SO:0001587	stop_gained	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.617C>A	14.37:g.60936309G>T	ENSP00000324920:p.Ser206*		Q08AQ4	Nonsense_Mutation	SNP	NULL	p.S206*	ENST00000321731.3	37	c.617	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.771675	0.96922	.	.	ENSG00000179008	ENST00000321731	.	.	.	4.86	4.86	0.63082	.	0.000000	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0163	9.4747	0.38864	0.0977:0.0:0.9023:0.0	.	.	.	.	X	206	.	ENSP00000324920:S206X	S	-	2	0	C14orf39	60006062	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	5.292000	0.65673	2.401000	0.81631	0.585000	0.79938	TCA	C14orf39	-	NULL	ENSG00000179008		0.244	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	-	0	66	0	G	NM_174978		60936309	-1	tier1	-	no_errors	ENST00000321731	ensembl	human	known	74_37	nonsense	6.33	74	5	SNP	0.676	T	T	60936309	G	T	60936309	4	4	19	1	0	0	0	0	0	1	0	0	1777	1294	45	3	1190	3	C14orf39	14	60936309	Nonsense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	21403751	60936309	46413231	75	5253											
RGS6	9628	genome.wustl.edu	37	chr14	72939647	72939647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacgagccttttgggatGtccacaggcctgtggtgaga	10	9	14	8	1	0	2	0	1	0	2	1	5	1	3	3	3	2	0	3	3	2	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr14:72939647G>A	ENST00000553530.1	+	9	811	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	RGS6_ENST00000556437.1_Missense_Mutation_p.V202I|RGS6_ENST00000407322.4_Missense_Mutation_p.V202I|RGS6_ENST00000554782.1_Missense_Mutation_p.V63I|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000406236.4_Missense_Mutation_p.V202I|RGS6_ENST00000553525.1_Missense_Mutation_p.V202I|RGS6_ENST00000555571.1_Missense_Mutation_p.V202I|RGS6_ENST00000434263.2_Missense_Mutation_p.V133I|RGS6_ENST00000355512.6_Missense_Mutation_p.V202I|RGS6_ENST00000343854.6_Missense_Mutation_p.V202I|RGS6_ENST00000402788.2_Missense_Mutation_p.V202I|RGS6_ENST00000404301.2_Missense_Mutation_p.V202I	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	202					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CTTTTGGGATGTCCACAGGCC	0.373																																					Ovarian(143;1926 2468 21071 48641)												0													138	154	149					14																	72939647		2203	4300	6503	SO:0001583	missense	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.604G>A	14.37:g.72939647G>A	ENSP00000452331:p.Val202Ile		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.V202I	ENST00000553530.1	37	c.604	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973868	0.92919	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.48836	0.93;0.82;0.82;0.93;0.83;0.95;0.96;0.92;0.82;0.8;0.93;1.05	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.69242	0.3089	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.71674	0.996;0.969;0.996;0.998	D;D;D;D	0.79108	0.992;0.918;0.992;0.927	T	0.70464	-0.4864	10	0.87932	D	0	-6.7768	19.6166	0.95636	0.0:0.0:1.0:0.0	.	133;202;207;202	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	I	202;202;202;202;202;202;202;202;202;202;174;133;63;63	ENSP00000451030:V202I;ENSP00000450936:V202I;ENSP00000452331:V202I;ENSP00000451855:V202I;ENSP00000347699:V202I;ENSP00000385243:V202I;ENSP00000384218:V202I;ENSP00000384612:V202I;ENSP00000383953:V202I;ENSP00000341199:V202I;ENSP00000412144:V133I;ENSP00000451912:V63I	ENSP00000341199:V202I	V	+	1	0	RGS6	72009400	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.011000	0.93618	2.735000	0.93741	0.650000	0.86243	GTC	RGS6	-	NULL	ENSG00000182732		0.373	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	-	0	39	0	G			72939647	1	tier1	-	no_errors	ENST00000553525	ensembl	human	known	74_37	missense	10.00	54	6	SNP	1.000	A	A	72939647	G	A	72939647	3	1	19	1	0	0	0	0	1	0	0	0	13354	1377	48	3	634	3	RGS6	14	72939647	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	12003338	72939647	34409893	76	5254											
LDHAL6B	92483	genome.wustl.edu	37	chr15	59499600	59499600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccaagaaaagggagaaaCgcgccttaatttagtccagc	15	6	10	10	3	0	2	0	0	0	2	1	3	1	2	3	1	2	0	3	1	6	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr15:59499600C>T	ENST00000307144.4	+	1	559	c.461C>T	c.(460-462)aCg>aTg	p.T154M	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	154					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						AAGGGAGAAACGCGCCTTAAT	0.413																																																	0													131	130	130					15																	59499600		2191	4290	6481	SO:0001583	missense	0			AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"lactate dehydrogenase A-like 6"	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.461C>T	15.37:g.59499600C>T	ENSP00000302393:p.Thr154Met		Q6DUY4|Q96LI2	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.T154M	ENST00000307144.4	37	c.461	CCDS10171.1	15	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681227	0.47886	.	.	ENSG00000171989	ENST00000307144	D	0.90069	-2.61	1.47	-1.94	0.07571	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.237149	0.32190	U	0.006455	D	0.93815	0.8022	H	0.97051	3.93	0.28681	N	0.905117	D	0.76494	0.999	P	0.62491	0.903	D	0.86912	0.2061	10	0.87932	D	0	.	4.2702	0.10783	0.2309:0.3095:0.4596:0.0	.	154	Q9BYZ2	LDH6B_HUMAN	M	154	ENSP00000302393:T154M	ENSP00000302393:T154M	T	+	2	0	LDHAL6B	57286892	1.000000	0.71417	0.009000	0.14445	0.433000	0.31745	3.198000	0.51035	-0.069000	0.12931	0.305000	0.20034	ACG	LDHAL6B	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000171989		0.413	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHAL6B	HGNC	protein_coding	OTTHUMT00000256015.1	-	0	52	0	C	NM_033195		59499600	1	tier1	-	no_errors	ENST00000307144	ensembl	human	known	74_37	missense	17.86	69	15	SNP	0.996	T	T	59499600	C	T	59499600	3	4	19	1	0	0	0	0	1	0	0	0	8728	536	19	1	463	1	LDHAL6B	15	59499600	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09		59499600	43031792	77	5255											
DET1	55070	genome.wustl.edu	37	chr15	89074851	89074851	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggtacctgccttgcctGaactgatccgccggcgttcc	5	10	12	14	3	0	2	0	2	0	0	2	2	2	2	6	2	4	2	6	2	2	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr15:89074851G>T	ENST00000268148.8	-	2	231	c.86C>A	c.(85-87)tCa>tAa	p.S29*	DET1_ENST00000564406.1_Nonsense_Mutation_p.S40*|DET1_ENST00000558413.1_Nonsense_Mutation_p.S29*|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Nonsense_Mutation_p.S40*	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	29						nucleus (GO:0005634)		p.S40*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TGCCTTGCCTGAACTGATCCG	0.468																																																	1	Substitution - Nonsense(1)	lung(1)											135	136	136					15																	89074851		2004	4175	6179	SO:0001587	stop_gained	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.86C>A	15.37:g.89074851G>T	ENSP00000268148:p.Ser29*		B3KNN6|Q2VPC0|Q9NWD5	Nonsense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.S40*	ENST00000268148.8	37	c.119	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.845155	0.97016	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-19.5618	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	40;29	.	ENSP00000268148:S29X	S	-	2	0	DET1	86875855	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	8.788000	0.91834	2.793000	0.96121	0.655000	0.94253	TCA	DET1	-	NULL	ENSG00000140543		0.468	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2		0	48	0	G	NM_017996		89074851	-1			no_errors	ENST00000444300	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.999	T	T	89074851	G	T	89074851	4	4	19	1	0	0	0	0	0	1	0	0	4464	1294	45	3	1582	3	DET1	15	89074851	Nonsense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	29575251	89074851	13456541	78	5256											
MSLNL	401827	genome.wustl.edu	37	chr16	820093	820093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaccagatggagcacttgGtgggtggtgctggggggccc	5	8	20	8	0	0	1	0	0	0	1	0	3	0	3	2	8	2	2	2	8	0	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr16:820093G>A	ENST00000442466.1	-	14	1838	c.1839C>T	c.(1837-1839)caC>caT	p.H613H	MSLNL_ENST00000293892.3_Silent_p.H964H|MIR662_ENST00000384847.1_RNA			Q96KJ4	MSLNL_HUMAN	mesothelin-like	613					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGAGCACTTGGTGGGTGGTGC	0.726																																																	0													12	15	14					16																	820093		2014	4086	6100	SO:0001819	synonymous_variant	0					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.1839C>T	16.37:g.820093G>A				Silent	SNP	pfam_Mesothelin	p.H964	ENST00000442466.1	37	c.2892		16																																																																																			MSLNL	-	NULL	ENSG00000162006		0.726	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		-	0	21	0	G	NM_001025190		820093	-1	tier1	-	no_errors	ENST00000293892	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.000	A	A	820093	G	A	820093	2	1	19	1	0	0	0	0	0	0	0	1	9920	1252	44	3		3	MSLNL	16	820093	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		820093	89534660	79	5257											
GNPTG	84572	genome.wustl.edu	37	chr16	1402138	1402138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagcgaagatgaaggtgGtggaggagcccaacgcgttt	10	7	17	7	3	0	2	0	1	0	1	0	5	0	4	1	4	4	2	1	4	3	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr16:1402138G>A	ENST00000204679.4	+	2	131	c.88G>A	c.(88-90)Gtg>Atg	p.V30M	TSR3_ENST00000007390.2_5'Flank	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	30					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GATGAAGGTGGTGGAGGAGCC	0.756																																																	0													7	6	6					16																	1402138		2126	4161	6287	SO:0001583	missense	0			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"GlcNAc-phosphotransferase gamma-subunit"	607838	"N-acetylglucosamine-1-phosphotransferase, gamma subunit", "chromosome 16 open reading frame 27"	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.88G>A	16.37:g.1402138G>A	ENSP00000204679:p.Val30Met		B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.V30M	ENST00000204679.4	37	c.88	CCDS10436.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.792120|4.792120	0.90453|0.90453	.|.	.|.	ENSG00000090581|ENSG00000090581	ENST00000529110|ENST00000204679	.|D	.|0.93307	.|-3.2	4.34|4.34	3.39|3.39	0.38822|0.38822	.|.	.|0.077938	.|0.50627	.|N	.|0.000106	D|D	0.94827|0.94827	0.8329|0.8329	L|L	0.54323|0.54323	1.7|1.7	0.45567|0.45567	D|D	0.998511|0.998511	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.94101|0.94101	0.7362|0.7362	5|10	.|0.87932	.|D	.|0	.|.	10.0399|10.0399	0.42151|0.42151	0.1024:0.0:0.8976:0.0|0.1024:0.0:0.8976:0.0	.|.	.|30	.|Q9UJJ9	.|GNPTG_HUMAN	D|M	52|30	.|ENSP00000204679:V30M	.|ENSP00000204679:V30M	G|V	+|+	2|1	0|0	GNPTG|GNPTG	1342139|1342139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.170000|4.170000	0.58229|0.58229	0.804000|0.804000	0.34136|0.34136	0.561000|0.561000	0.74099|0.74099	GGT|GTG	GNPTG	-	NULL	ENSG00000090581		0.756	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	-	0	18	0	G	NM_032520		1402138	1	tier1	-	no_errors	ENST00000204679	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	A	A	1402138	G	A	1402138	3	1	19	1	0	0	0	0	1	0	0	0	6572	1261	44	3	94	3	GNPTG	16	1402138	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	582045	1402138	88952615	80	5258											
CNOT1	23019	genome.wustl.edu	37	chr16	58577404	58577404	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaacaaatatggtgattaTtaagaataagtggtaacgcc	17	11	8	5	1	1	2	1	1	0	1	1	2	1	2	1	2	2	1	1	2	8	5			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr16:58577404T>G	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.N1514T|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		atggtgattattaagaataag	0.313																																																	0													41	47	45					16																	58577404		1277	2285	3562	SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+106A>C	16.37:g.58577404T>G			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N1514T	ENST00000317147.5	37	c.4541	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	T	10.40	1.338935	0.24253	.	.	ENSG00000125107	ENST00000441024	T	0.45276	0.9	3.69	0.146	0.14833	.	.	.	.	.	T	0.29817	0.0745	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.27739	-1.0065	8	0.87932	D	0	.	5.8406	0.18630	0.0:0.3709:0.0:0.6291	.	1514	A5YKK6-4	.	T	1514	ENSP00000413113:N1514T	ENSP00000413113:N1514T	N	-	2	0	CNOT1	57134905	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.815000	0.04481	-0.101000	0.12219	0.477000	0.44152	AAT	CNOT1	-	NULL	ENSG00000125107		0.313	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	28	0	T	NM_016284		58577404	-1	tier1	-	no_errors	ENST00000441024	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.000	G	G	58577404	T	G	58577404	1	3	19	0	1	0	0	0	0	0	0	0	3624	1493	52	4		4	CNOT1	16	58577404	Intron	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	57175266	58577404	31777349	81	5259											
SLC9A5	6553	genome.wustl.edu	37	chr16	67289823	67289823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatggcctcgctctccGccattcttgcgtgagttctg	5	13	10	13	3	3	2	0	2	3	0	5	2	3	2	3	1	1	2	3	1	1	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr16:67289823G>T	ENST00000299798.11	+	5	966	c.901G>T	c.(901-903)Gcc>Tcc	p.A301S	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	301					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTCGCTCTCCGCCATTCTTGC	0.617																																																	0													28	29	29					16																	67289823		2122	4254	6376	SO:0001583	missense	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.901G>T	16.37:g.67289823G>T	ENSP00000299798:p.Ala301Ser		A5PKY7|Q9Y626	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A301S	ENST00000299798.11	37	c.901	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354061	0.61293	.	.	ENSG00000135740	ENST00000299798	T	0.15718	2.4	5.83	5.83	0.93111	Cation/H+ exchanger (1);	0.053861	0.64402	D	0.000001	T	0.12646	0.0307	L	0.27944	0.81	0.45403	D	0.998385	P	0.43607	0.812	B	0.36534	0.227	T	0.02567	-1.1140	10	0.46703	T	0.11	.	14.0005	0.64431	0.0:0.0:0.8489:0.1511	.	301	Q14940	SL9A5_HUMAN	S	301	ENSP00000299798:A301S	ENSP00000299798:A301S	A	+	1	0	SLC9A5	65847324	0.974000	0.33945	0.983000	0.44433	0.991000	0.79684	1.629000	0.37071	2.775000	0.95449	0.650000	0.86243	GCC	SLC9A5	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000135740		0.617	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1		0	24	0	G			67289823	1			no_errors	ENST00000299798	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T	T	67289823	G	T	67289823	3	4	19	1	0	0	0	0	1	0	0	0	14762	1087	38	2	919	2	SLC9A5	16	67289823	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	8712419	67289823	23064930	82	5260											
PDPR	55066	genome.wustl.edu	37	chr16	70190707	70190707	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaggccaaggccaagctCtaccctgtcgcctccctctt	6	10	7	18	1	2	0	0	0	2	0	5	0	4	0	6	2	2	1	6	2	3	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr16:70190707C>G	ENST00000288050.4	+	19	3522	c.2565C>G	c.(2563-2565)ctC>ctG	p.L855L	RP11-296I10.3_ENST00000502126.1_RNA|PDPR_ENST00000567046.1_Silent_p.L213L|PDPR_ENST00000398122.3_Silent_p.L755L|PDPR_ENST00000568530.1_Silent_p.L855L|PDPR_ENST00000542659.1_Silent_p.L200L|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	855					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AGGCCAAGCTCTACCCTGTCG	0.572																																																	0													69	83	78					16																	70190707		2095	4219	6314	SO:0001819	synonymous_variant	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2565C>G	16.37:g.70190707C>G			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.L855	ENST00000288050.4	37	c.2565	CCDS45520.1	16																																																																																			PDPR	-	NULL	ENSG00000090857		0.572	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	-	0	109	0	C	NM_017990		70190707	1	tier1	-	no_errors	ENST00000288050	ensembl	human	known	74_37	silent	11.35	125	16	SNP	1.000	G	G	70190707	C	G	70190707	2	3	19	1	0	0	0	0	0	0	0	1	11728	900	32	5		5	PDPR	16	70190707	Silent	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	2900884	70190707	20164046	83	5261											
CLEC3A	10143	genome.wustl.edu	37	chr16	78062008	78062008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaattttccccagacaaGgatggagatctgaagactca	15	9	8	9	0	2	4	1	1	1	3	3	6	3	5	2	2	0	0	2	2	4	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr16:78062008G>T	ENST00000575655.1	+	2	201	c.120G>T	c.(118-120)aaG>aaT	p.K40N	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000299642.4_Missense_Mutation_p.K49N	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	40					skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CCCCAGACAAGGATGGAGATC	0.438																																																	0													88	86	87					16																	78062008		2198	4300	6498	SO:0001583	missense	0			AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"C-type lectin domain containing"	2052	protein-coding gene	gene with protein product		613588	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.120G>T	16.37:g.78062008G>T	ENSP00000460682:p.Lys40Asn		B2R8C4|Q3SX91|Q6UXF5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K49N	ENST00000575655.1	37	c.147		16	.	.	.	.	.	.	.	.	.	.	G	8.658	0.899909	0.17686	.	.	ENSG00000166509	ENST00000299642	T	0.08634	3.07	5.28	-0.178	0.13303	.	0.244803	0.46758	D	0.000268	T	0.04543	0.0124	L	0.29908	0.895	0.30937	N	0.72623	B	0.06786	0.001	B	0.04013	0.001	T	0.20338	-1.0278	10	0.46703	T	0.11	-3.3581	0.6131	0.00764	0.3466:0.1205:0.2861:0.2469	.	40	O75596	CLC3A_HUMAN	N	40	ENSP00000299642:K40N	ENSP00000299642:K40N	K	+	3	2	CLEC3A	76619509	0.974000	0.33945	0.979000	0.43373	0.305000	0.27757	0.142000	0.16096	-0.159000	0.11021	0.561000	0.74099	AAG	CLEC3A	-	NULL	ENSG00000166509		0.438	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	CLEC3A	HGNC	protein_coding		-	0	30	0	G	NM_005752		78062008	1	tier1	-	no_errors	ENST00000299642	ensembl	human	known	74_37	missense	25.00	39	13	SNP	0.952	T	T	78062008	G	T	78062008	3	4	19	1	0	0	0	0	1	0	0	0	3517	991	35	3	126	3	CLEC3A	16	78062008	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	7871301	78062008	12292745	84	5262											
TP53	7157	genome.wustl.edu	37	chr17	7578547	7578547	+	Frame_Shift_Del	DEL	G	G	-																															aaaacatcttgttgagggcaGgggagtactgtaggaagagg																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr17:7578547delG	ENST00000269305.4	-	5	572	c.383delC	c.(382-384)cctfs	p.P128fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGAGGGCAGGGGAGTACTG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	29	Deletion - In frame(11)|Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(3)|Unknown(1)	upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|breast(3)|urinary_tract(2)|lung(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|oesophagus(1)|prostate(1)											44	45	44					17																	7578547		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.383delC	17.37:g.7578547delG	ENSP00000269305:p.Pro128fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P128fs	ENST00000269305.4	37	c.383	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	27	0	G	NM_000546		7578547	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	46.15	21	18	DEL	0.106	-	-	7578547	G	-	7578547	7	5	19	1	0	1	0	1	0	0	0	0	16429	1000	35	0	915	0	TP53	17	7578547	Frame_Shift_Del	DEL	G	TCGA-IG-A3YB-01A-11D-A247-09		7578547	73616663	85	5263											
DNAH2	146754	genome.wustl.edu	37	chr17	7669692	7669692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaccagattacacaagtgCgggccatgctgatggccatg	11	8	12	10	1	0	3	0	1	0	2	0	3	0	3	3	2	3	1	3	2	3	2	rs138479117		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr17:7669692C>T	ENST00000572933.1	+	22	5028	c.3568C>T	c.(3568-3570)Cgg>Tgg	p.R1190W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1190W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1190	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACACAAGTGCGGGCCATGCT	0.547													C|||	1	0.000199681	0	0	5008	,	,		18756	0.001		0	False		,,,				2504	0																0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	116	94	102		3568	4.7	1	17	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH2	NM_020877.2	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1190/4428	7669692	2,13004	2203	4300	6503	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3568C>T	17.37:g.7669692C>T	ENSP00000458355:p.Arg1190Trp		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1190W	ENST00000572933.1	37	c.3568	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646550	0.47258	2.27E-4	1.16E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.24350	1.86	5.71	4.71	0.59529	.	0.159592	0.40469	N	0.001081	T	0.25901	0.0631	L	0.56769	1.78	0.80722	D	1	B	0.26775	0.159	B	0.18561	0.022	T	0.04870	-1.0921	10	0.62326	D	0.03	.	11.8875	0.52610	0.3388:0.6612:0.0:0.0	.	1190	Q9P225	DYH2_HUMAN	W	1190	ENSP00000373825:R1190W	ENSP00000353818:R1190W	R	+	1	2	DNAH2	7610417	0.997000	0.39634	0.961000	0.40146	0.756000	0.42949	1.680000	0.37607	1.337000	0.45525	0.561000	0.74099	CGG	DNAH2	-	NULL	ENSG00000183914		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	21	0	C	NM_020877		7669692	1	tier1	rs138479117	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	55.81	19	24	SNP	0.998	T	T	7669692	C	T	7669692	3	4	19	1	0	0	0	0	1	0	0	0	4616	759	27	1	3650	1	DNAH2	17	7669692	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	91145	7669692	73525518	86	5264											
SPDYE4	388333	genome.wustl.edu	37	chr17	8658868	8658868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgaatgcgttggtatTgccacgagaagaggccggca	13	7	14	7	3	0	4	0	1	0	3	0	5	0	4	2	3	2	3	2	3	4	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr17:8658868T>C	ENST00000328794.6	-	4	631	c.455A>G	c.(454-456)cAa>cGa	p.Q152R		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	152										breast(1)|endometrium(2)|kidney(1)	4						GCGTTGGTATTGCCACGAGAA	0.493																																																	0													109	93	98					17																	8658868		692	1591	2283	SO:0001583	missense	0			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"Speedy homologs"	35463	protein-coding gene	gene with protein product			"speedy homolog E4 (Xenopus laevis)"				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.455A>G	17.37:g.8658868T>C	ENSP00000329522:p.Gln152Arg		B2RUZ6	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.Q152R	ENST00000328794.6	37	c.455	CCDS45609.1	17	.	.	.	.	.	.	.	.	.	.	T	4.788	0.146449	0.09134	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.86	0.176	0.15049	.	0.335138	0.24815	N	0.035371	T	0.50497	0.1619	M	0.78916	2.43	0.09310	N	1	D	0.57571	0.98	P	0.55667	0.781	T	0.43180	-0.9407	9	0.62326	D	0.03	.	5.2493	0.15514	0.4742:0.0:0.0:0.5258	.	152	A6NLX3	SPDE4_HUMAN	R	152	.	ENSP00000329522:Q152R	Q	-	2	0	SPDYE4	8599593	0.008000	0.16893	0.004000	0.12327	0.007000	0.05969	-0.000000	0.12993	-0.125000	0.11703	0.338000	0.21704	CAA	SPDYE4	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000183318		0.493	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYE4	HGNC	protein_coding	OTTHUMT00000442494.1	-	0	189	0	T	NM_001128076		8658868	-1	tier1	-	no_errors	ENST00000328794	ensembl	human	known	74_37	missense	64.49	86	158	SNP	0.024	C	C	8658868	T	C	8658868	3	2	19	1	0	0	0	0	1	0	0	0	15078	1812	63	4	270	4	SPDYE4	17	8658868	Missense_Mutation	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	989176	8658868	72536342	87	5265											
PIGS	94005	genome.wustl.edu	37	chr17	26883215	26883215	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaacacctccatcactcGcaccatgtccacctcgactc	10	7	5	19	2	1	0	1	0	0	0	6	2	3	1	5	1	1	1	5	1	1	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr17:26883215G>A	ENST00000308360.7	-	10	1525	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000395346.2_Nonsense_Mutation_p.R376*|PIGS_ENST00000543734.1_Nonsense_Mutation_p.R323*	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	384					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCATCACTCGCACCATGTCC	0.507																																																	0													234	170	192					17																	26883215		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1150C>T	17.37:g.26883215G>A	ENSP00000309430:p.Arg384*		Q6UVX6	Nonsense_Mutation	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.R384*	ENST00000308360.7	37	c.1150	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.490754	0.98316	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000268758;ENST00000543734	.	.	.	5.63	5.63	0.86233	.	0.594940	0.17856	N	0.159684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0204	15.6505	0.77088	0.0:0.1376:0.8624:0.0	.	.	.	.	X	376;384;127;323	.	ENSP00000268758:R127X	R	-	1	2	PIGS	23907342	0.599000	0.26891	0.857000	0.33713	0.982000	0.71751	3.745000	0.55119	2.653000	0.90120	0.563000	0.77884	CGA	PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.507	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3	-	0	82	0	G	NM_033198		26883215	-1	tier1	-	no_errors	ENST00000308360	ensembl	human	known	74_37	nonsense	12.36	78	11	SNP	0.605	A	A	26883215	G	A	26883215	4	1	19	1	0	0	0	0	0	1	0	0	11937	1095	38	1	529	1	PIGS	17	26883215	Nonsense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	18224347	26883215	54311995	88	5266											
KCNH4	23415	genome.wustl.edu	37	chr17	40321669	40321669	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggatgatggctgtcacgttCccgaacaccacagcgtgcat	9	9	11	12	3	1	1	1	1	0	0	2	3	2	2	2	2	3	3	2	2	1	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr17:40321669C>G	ENST00000264661.3	-	9	1748	c.1416G>C	c.(1414-1416)ggG>ggC	p.G472G	KCNH4_ENST00000607371.1_Silent_p.G472G	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	472					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTCACGTTCCCGAACACCA	0.662																																					NSCLC(117;707 1703 2300 21308 31858)												0													80	64	70					17																	40321669		2203	4300	6503	SO:0001819	synonymous_variant	0			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.1416G>C	17.37:g.40321669C>G				Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G472	ENST00000264661.3	37	c.1416	CCDS11420.1	17																																																																																			KCNH4	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000089558		0.662	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	-	0	64	0	C	NM_012285		40321669	-1	tier1	-	no_errors	ENST00000264661	ensembl	human	known	74_37	silent	66.67	27	54	SNP	0.879	G	G	40321669	C	G	40321669	2	3	19	1	0	0	0	0	0	0	0	1	8061	842	30	5		5	KCNH4	17	40321669	Silent	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	13438454	40321669	40873541	89	5267											
HDAC5	10014	genome.wustl.edu	37	chr17	42162043	42162043	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgcgacctcggatccGctgccaggaggatcagtaag	8	8	14	11	3	1	0	1	0	0	0	3	4	2	3	3	4	2	3	3	4	1	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr17:42162043G>T	ENST00000393622.2	-	16	2516	c.2185C>A	c.(2185-2187)Cgg>Agg	p.R729R	HDAC5_ENST00000336057.5_Intron|HDAC5_ENST00000225983.6_Splice_Site_p.R730R|HDAC5_ENST00000586802.1_Splice_Site_p.R729R	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	729	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCTCGGATCCGCTGCCAGGAG	0.587											OREG0024450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													142	118	126					17																	42162043		2203	4300	6503	SO:0001630	splice_region_variant	0			AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2185-1C>A	17.37:g.42162043G>T		906	C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R730	ENST00000393622.2	37	c.2188	CCDS45696.1	17																																																																																			HDAC5	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000108840		0.587	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC5	HGNC	protein_coding	OTTHUMT00000457686.1		0	29	0	G	NM_001015053	Silent	42162043	-1			no_errors	ENST00000225983	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	T	T	42162043	G	T	42162043	5	4	19	1	0	0	0	0	0	0	1	0	7037	1101	38	2	1231	2	HDAC5	17	42162043	Splice_Site	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	1840374	42162043	39033167	90	5268											
RANBP3	8498	genome.wustl.edu	37	chr19	5918644	5918644	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggctcccctgggtccGcatcactacaaccaacaagg	10	6	9	16	2	1	0	1	0	0	0	4	0	3	0	4	3	3	3	4	3	4	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:5918644G>T	ENST00000340578.6	-	15	1393	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R	RANBP3_ENST00000541471.1_Silent_p.R318R|RANBP3_ENST00000034275.8_Silent_p.R378R|RANBP3_ENST00000439268.2_Silent_p.R441R|RANBP3_ENST00000591092.1_Silent_p.R373R	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	446	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCCTGGGTCCGCATCACTACA	0.602																																																	0													110	122	118					19																	5918644		2103	4204	6307	SO:0001819	synonymous_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1336C>A	19.37:g.5918644G>T			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.R446	ENST00000340578.6	37	c.1336	CCDS42478.1	19																																																																																			RANBP3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000031823		0.602	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1		0	18	0	G	NM_007322		5918644	-1			no_errors	ENST00000340578	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T	T	5918644	G	T	5918644	2	4	19	1	0	0	0	0	0	0	0	1	13074	1086	38	2		2	RANBP3	19	5918644	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		5918644	53210339	91	5269											
C19orf66	55337	genome.wustl.edu	37	chr19	10200373	10200373	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaccgggacattcaggTgagttggtggctagggcttg	7	9	18	7	1	1	1	1	1	0	0	1	3	1	3	1	6	0	4	1	6	1	4			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:10200373T>C	ENST00000253110.11	+	4	532		c.e4+2		C19orf66_ENST00000591813.1_Splice_Site|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_Splice_Site	NM_018381.2	NP_060851.2	Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66											large_intestine(3)|skin(1)	4						GACATTCAGGTGAGTTGGTGG	0.587																																																	0													45	49	48					19																	10200373		2003	4173	6176	SO:0001630	splice_region_variant	0				CCDS45957.1	19p13.2	2012-10-26			ENSG00000130813	ENSG00000130813			25649	protein-coding gene	gene with protein product						12477932	Standard	NM_018381		Approved	FLJ11286	uc002mmu.4	Q9NUL5		ENST00000253110.11:c.234+2T>C	19.37:g.10200373T>C			A8MQT9|Q4G188|Q8IYH6|Q8N8V1	Splice_Site	SNP	-	e4+2	ENST00000253110.11	37	c.234+2	CCDS45957.1	19	.	.	.	.	.	.	.	.	.	.	t	7.536	0.659743	0.14645	.	.	ENSG00000130813	ENST00000253110;ENST00000397881	.	.	.	4.37	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4257	0.21768	0.0:0.1103:0.0:0.8897	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf66	10061373	1.000000	0.71417	0.971000	0.41717	0.153000	0.21895	3.303000	0.51858	0.734000	0.32515	-0.255000	0.11280	.	C19orf66	-	-	ENSG00000130813		0.587	C19orf66-001	KNOWN	basic|CCDS	protein_coding	C19orf66	HGNC	protein_coding	OTTHUMT00000451129.1	-	0	37	0	T	NM_018381	Intron	10200373	1	tier1	-	no_errors	ENST00000253110	ensembl	human	known	74_37	splice_site	52.50	19	21	SNP	0.990	C	C	10200373	T	C	10200373	5	2	19	1	0	0	0	0	0	0	1	0	1953	1710	59	4	250	4	C19orf66	19	10200373	Splice_Site	SNP	T	TCGA-IG-A3YB-01A-11D-A247-09	4281729	10200373	48928610	92	5270											
DOCK6	57572	genome.wustl.edu	37	chr19	11354034	11354034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggggcccccgacggCggcggtctgtccaggctggc	2	6	18	15	4	1	0	0	0	1	0	3	1	3	0	4	8	0	1	4	8	0	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:11354034C>T	ENST00000294618.7	-	12	1297	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	429					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCCCCGACGGCGGCGGTCTGT	0.627											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10	13	12					19																	11354034		1869	4084	5953	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1286G>A	19.37:g.11354034C>T	ENSP00000294618:p.Arg429His	671	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.R429H	ENST00000294618.7	37	c.1286	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336389	0.81801	.	.	ENSG00000130158	ENST00000294618	T	0.41400	1.0	3.63	3.63	0.41609	.	0.068167	0.52532	D	0.000072	T	0.48484	0.1502	L	0.54323	1.7	0.80722	D	1	D	0.59357	0.985	P	0.52514	0.701	T	0.52034	-0.8629	10	0.52906	T	0.07	-23.9778	12.8412	0.57805	0.0:1.0:0.0:0.0	.	429	Q96HP0	DOCK6_HUMAN	H	429	ENSP00000294618:R429H	ENSP00000294618:R429H	R	-	2	0	DOCK6	11215034	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.880000	0.48530	1.861000	0.53984	0.462000	0.41574	CGC	DOCK6	-	NULL	ENSG00000130158		0.627	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	-	0	56	0	C	NM_020812		11354034	-1	tier1	-	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	20.73	65	17	SNP	1.000	T	T	11354034	C	T	11354034	3	4	19	1	0	0	0	0	1	0	0	0	4705	768	27	1	5005	1	DOCK6	19	11354034	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	1153661	11354034	47774949	93	5271											
WIZ	58525	genome.wustl.edu	37	chr19	15538262	15538262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcagatgggagcgcgcGtggctcgagaggcccttgcg	5	6	18	12	6	0	2	0	0	0	2	1	4	0	3	2	3	3	2	2	3	0	1	rs558510562		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:15538262G>A	ENST00000389282.4	-	6	3396	c.3183C>T	c.(3181-3183)caC>caT	p.H1061H	WIZ_ENST00000263381.7_Silent_p.H204H|WIZ_ENST00000599686.3_Silent_p.H245H|WIZ_ENST00000545156.1_Silent_p.H375H|WIZ_ENST00000599910.2_Silent_p.H378H			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1061					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGGAGCGCGCGTGGCTCGAGA	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		20039	0		0	False		,,,				2504	0																0													31	32	32					19																	15538262		2109	4214	6323	SO:0001819	synonymous_variant	0			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"Zinc fingers, C2H2-type"	30917	protein-coding gene	gene with protein product			"WIZ zinc finger"			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3183C>T	19.37:g.15538262G>A			B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1061	ENST00000389282.4	37	c.3183		19																																																																																			WIZ	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000011451		0.627	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		-	0	99	0	G	NM_021241		15538262	-1	tier1	-	no_errors	ENST00000389282	ensembl	human	known	74_37	silent	6.76	69	5	SNP	0.130	A	A	15538262	G	A	15538262	2	1	19	1	0	0	0	0	0	0	0	1	17424	1136	40	1		1	WIZ	19	15538262	Silent	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	4184228	15538262	43590721	94	5272											
NWD1	284434	genome.wustl.edu	37	chr19	16860996	16860996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagctgcaaggaggacgCtgagcccggtgcacacagat	10	5	15	11	2	0	2	0	1	0	1	0	4	0	4	1	4	4	5	1	4	1	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:16860996C>T	ENST00000552788.1	+	4	1543	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L	NWD1_ENST00000549814.1_Silent_p.L515L|NWD1_ENST00000523826.1_Silent_p.L309L|NWD1_ENST00000339803.6_Silent_p.L380L|NWD1_ENST00000379808.3_Silent_p.L515L|NWD1_ENST00000524140.2_Silent_p.L515L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	515	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGGAGGACGCTGAGCCCGGT	0.642																																																	0													40	39	39					19																	16860996		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1543C>T	19.37:g.16860996C>T			C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L515	ENST00000552788.1	37	c.1543		19																																																																																			NWD1	-	superfamily_P-loop_NTPase	ENSG00000188039		0.642	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0	38	0	C	NM_001007525		16860996	1	tier1	-	no_errors	ENST00000379808	ensembl	human	known	74_37	silent	45.00	22	18	SNP	0.976	T	T	16860996	C	T	16860996	2	4	19	1	0	0	0	0	0	0	0	1	10820	796	28	3		3	NWD1	19	16860996	Silent	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	1322734	16860996	42267987	95	5273											
B3GNT8	593	genome.wustl.edu	37	chr19	41931756	41931756	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcgcccggcaatgacgtAgccacccccgcttgcatagg	8	5	12	16	4	0	1	0	1	0	0	0	1	0	1	4	3	2	4	4	3	3	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:41931756A>G	ENST00000269980.2	+	0	2103				B3GNT8_ENST00000321702.2_Missense_Mutation_p.Y310H|CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'Flank	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCAATGACGTAGCCACCCCCG	0.647																																																	0													29	31	30					19																	41931756		2201	4296	6497	SO:0001628	intergenic_variant	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931756A>G			B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.Y310H	ENST00000269980.2	37	c.928	CCDS12581.1	19	.	.	.	.	.	.	.	.	.	.	A	15.39	2.820665	0.50633	.	.	ENSG00000177191	ENST00000321702	T	0.64991	-0.13	3.81	3.81	0.43845	.	0.244486	0.34200	N	0.004172	T	0.80747	0.4682	M	0.90425	3.115	0.53005	D	0.99996	D	0.76494	0.999	D	0.74348	0.983	D	0.84386	0.0552	10	0.66056	D	0.02	.	11.9954	0.53198	1.0:0.0:0.0:0.0	.	310	Q7Z7M8	B3GN8_HUMAN	H	310	ENSP00000312700:Y310H	ENSP00000312700:Y310H	Y	-	1	0	B3GNT8	46623596	1.000000	0.71417	0.965000	0.40720	0.208000	0.24298	5.716000	0.68437	1.737000	0.51674	0.533000	0.62120	TAC	B3GNT8	-	pfam_Glyco_trans_31	ENSG00000177191		0.647	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT8	HGNC	protein_coding	OTTHUMT00000398313.3	-	0	42	0	A	NM_000709		41931756	-1	tier1	-	no_errors	ENST00000321702	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	G	G	41931756	A	G	41931756	1	3	19	0	1	0	0	0	0	0	0	0	1264	420	15	4		4	B3GNT8	19	41931756	IGR	SNP	A	TCGA-IG-A3YB-01A-11D-A247-09	25070760	41931756	17197227	96	5274											
PSG4	5672	genome.wustl.edu	37	chr19	43699171	43699171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacattcagggtgactgggtCactgcggatgccaccatatc	9	9	12	11	1	2	1	2	1	0	0	3	3	2	2	2	3	2	0	2	3	1	2	rs576741968		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:43699171C>T	ENST00000405312.3	-	4	1201	c.964G>A	c.(964-966)Gac>Aac	p.D322N	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.D229N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	322	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTGACTGGGTCACTGCGGATG	0.488																																																	0													120	111	114					19																	43699171		2201	4293	6494	SO:0001583	missense	0				CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9521	protein-coding gene	gene with protein product	"pregnancy-specific beta-1-glycoprotein 4"	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.964G>A	19.37:g.43699171C>T	ENSP00000384770:p.Asp322Asn		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D322N	ENST00000405312.3	37	c.964	CCDS46093.1	19	.	.	.	.	.	.	.	.	.	.	c	7.094	0.572791	0.13623	.	.	ENSG00000243137	ENST00000405312;ENST00000433626	T;T	0.10763	2.84;2.84	1.45	1.45	0.22620	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14700	0.0355	M	0.79693	2.465	0.20764	N	0.999859	B;B	0.14012	0.002;0.009	B;B	0.23574	0.033;0.047	T	0.22836	-1.0205	9	0.33940	T	0.23	.	6.2719	0.20959	0.0:1.0:0.0:0.0	.	229;322	E7EX79;Q00888	.;PSG4_HUMAN	N	322;229	ENSP00000384770:D322N;ENSP00000387864:D229N	ENSP00000384770:D322N	D	-	1	0	PSG4	48391011	0.918000	0.31147	0.075000	0.20258	0.043000	0.13939	0.740000	0.26188	0.774000	0.33427	0.391000	0.25812	GAC	PSG4	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000243137		0.488	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG4	HGNC	protein_coding	OTTHUMT00000323073.1	-	0	181	0	C	NM_213633		43699171	-1	tier1	-	no_errors	ENST00000405312	ensembl	human	known	74_37	missense	42.57	143	106	SNP	0.745	T	T	43699171	C	T	43699171	3	4	19	1	0	0	0	0	1	0	0	0	12699	826	29	3	307	3	PSG4	19	43699171	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	1767415	43699171	15429812	97	5275											
PRKD2	25865	genome.wustl.edu	37	chr19	47201016	47201016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccttgttgctgtaatgaaCcacccaaccctcccgcagcg	8	9	8	16	2	0	1	0	1	0	0	2	1	2	1	5	0	4	4	5	0	3	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:47201016C>A	ENST00000291281.4	-	8	1438	c.1213G>T	c.(1213-1215)Gtt>Ttt	p.V405F	PRKD2_ENST00000595515.1_Missense_Mutation_p.V405F|PRKD2_ENST00000600194.1_Missense_Mutation_p.V248F|PRKD2_ENST00000433867.1_Missense_Mutation_p.V405F|PRKD2_ENST00000601806.1_Missense_Mutation_p.V248F			Q9BZL6	KPCD2_HUMAN	protein kinase D2	405	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CTGTAATGAACCACCCAACCC	0.657																																																	0													115	91	99					19																	47201016		2203	4300	6503	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1213G>T	19.37:g.47201016C>A	ENSP00000291281:p.Val405Phe		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.V405F	ENST00000291281.4	37	c.1213	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	c	34	5.371932	0.95923	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.75938	-0.98;-0.98	4.16	4.16	0.48862	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.53938	U	0.000051	D	0.87330	0.6150	M	0.89287	3.02	0.80722	D	1	B;P	0.46457	0.084;0.878	B;D	0.63033	0.377;0.91	D	0.89972	0.4094	10	0.87932	D	0	-20.1943	15.7239	0.77736	0.0:1.0:0.0:0.0	.	405;405	E7ER94;Q9BZL6	.;KPCD2_HUMAN	F	405	ENSP00000291281:V405F;ENSP00000393978:V405F	ENSP00000291281:V405F	V	-	1	0	PRKD2	51892856	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.495000	0.66912	2.338000	0.79540	0.537000	0.68136	GTT	PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105287		0.657	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0	23	0	C	NM_016457		47201016	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	missense	22.73	34	10	SNP	1.000	A	A	47201016	C	A	47201016	3	1	19	1	0	0	0	0	1	0	0	0	12561	507	18	3	1467	3	PRKD2	19	47201016	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	3501845	47201016	11927967	98	5276											
SIGLEC9	27180	genome.wustl.edu	37	chr19	51633206	51633206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccagcctcccccagcttCtgcccgctcctcagtggggg	5	7	11	18	1	2	1	1	0	1	1	4	1	4	1	6	2	3	2	6	2	0	1			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:51633206C>T	ENST00000250360.3	+	7	1329	c.1262C>T	c.(1261-1263)tCt>tTt	p.S421F	SIGLEC9_ENST00000440804.3_Intron	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	421					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CCCCCAGCTTCTGCCCGCTCC	0.617																																																	0													68	71	70					19																	51633206		2203	4300	6503	SO:0001583	missense	0			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.1262C>T	19.37:g.51633206C>T	ENSP00000250360:p.Ser421Phe		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.S421F	ENST00000250360.3	37	c.1262	CCDS12825.1	19	.	.	.	.	.	.	.	.	.	.	.	7.315	0.615696	0.14129	.	.	ENSG00000129450	ENST00000250360	T	0.10668	2.85	1.96	-3.92	0.04155	.	.	.	.	.	T	0.04272	0.0118	N	0.14661	0.345	0.09310	N	1	B	0.33694	0.421	B	0.26693	0.072	T	0.31280	-0.9949	9	0.56958	D	0.05	.	2.4026	0.04405	0.4262:0.2573:0.0:0.3165	.	421	Q9Y336	SIGL9_HUMAN	F	421	ENSP00000250360:S421F	ENSP00000250360:S421F	S	+	2	0	SIGLEC9	56325018	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.449000	0.21744	-0.981000	0.03520	-0.351000	0.07748	TCT	SIGLEC9	-	NULL	ENSG00000129450		0.617	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	-	0	21	0	C	NM_014441		51633206	1	tier1	-	no_errors	ENST00000250360	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.000	T	T	51633206	C	T	51633206	3	4	19	1	0	0	0	0	1	0	0	0	14360	913	32	3	1288	3	SIGLEC9	19	51633206	Missense_Mutation	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	4432190	51633206	7495777	99	5277											
ZNF667	63934	genome.wustl.edu	37	chr19	56972059	56972059	+	Splice_Site	DEL	A	A	-																															gggggacgaagagccttaccAagcgagaccaggttccggta																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr19:56972059delA	ENST00000504904.3	-	5	878	c.159delT	c.(157-159)ctt>ct	p.L53fs	ZNF667_ENST00000292069.6_Splice_Site_p.L53fs|ZNF667_ENST00000591790.1_Splice_Site_p.L53fs|ZNF667_ENST00000342634.3_Splice_Site_p.L146fs			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GAGCCTTACCAAGCGAGACCA	0.498																																																	0													103	92	96					19																	56972059		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.160+1T>-	19.37:g.56972059delA			B2RMS6|B9EK36|Q6B093|Q9H807	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G147fs	ENST00000504904.3	37	c.438	CCDS12944.1	19																																																																																			ZNF667	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198046		0.498	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1		0	22	0	A	NM_022103	Frame_Shift_Del	56972059	-1	tier1		no_errors	ENST00000342634	ensembl	human	known	74_37	frame_shift_del	27.27	24	9	DEL	0.001	-	-	56972059	A	-	56972059	8	5	19	1	0	1	0	1	0	0	1	0	18122	144	5	0	1685	0	ZNF667	19	56972059	Splice_Site	DEL	A	TCGA-IG-A3YB-01A-11D-A247-09	5338853	56972059	2156924	100	5278											
DSN1	79980	genome.wustl.edu	37	chr20	35396375	35396375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttataagaaccttacctgGaaactggaaagcaggagaca	17	7	10	7	0	0	2	0	0	0	2	0	5	0	4	2	3	4	2	2	3	6	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr20:35396375G>T	ENST00000426836.1	-	4	798	c.426C>A	c.(424-426)ttC>ttA	p.F142L	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Missense_Mutation_p.F126L|DSN1_ENST00000373734.4_Missense_Mutation_p.F35L|DSN1_ENST00000373740.3_Missense_Mutation_p.F70L|DSN1_ENST00000373750.4_Missense_Mutation_p.F142L|DSN1_ENST00000373745.3_Missense_Mutation_p.F142L	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	142				F -> S (in Ref. 1; BAC04024). {ECO:0000305}.	chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACCTTACCTGGAAACTGGAAA	0.418																																																	0													110	106	108					20																	35396375		2203	4300	6503	SO:0001583	missense	0			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.426C>A	20.37:g.35396375G>T	ENSP00000389810:p.Phe142Leu		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Dsn1/Mis13	p.F142L	ENST00000426836.1	37	c.426	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099465	0.56183	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	5.38	2.25	0.28309	.	0.210135	0.45361	D	0.000375	T	0.41834	0.1176	N	0.24115	0.695	0.29803	N	0.832261	D;D	0.76494	0.999;0.999	D;D	0.83275	0.992;0.996	T	0.26087	-1.0113	9	0.25106	T	0.35	-4.994	6.1936	0.20538	0.3099:0.0:0.6901:0.0	.	35;142	Q5JW55;Q9H410	.;DSN1_HUMAN	L	142;142;126;75;142;70;35;126;142;42	.	ENSP00000362838:F75L	F	-	3	2	DSN1	34829789	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	0.788000	0.26872	0.865000	0.35603	-0.136000	0.14681	TTC	DSN1	-	pfam_Dsn1/Mis13	ENSG00000149636		0.418	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2	-	0	21	0	G	NM_024918		35396375	-1	tier1	-	no_errors	ENST00000373745	ensembl	human	known	74_37	missense	67.65	11	23	SNP	1.000	T	T	35396375	G	T	35396375	3	4	19	1	0	0	0	0	1	0	0	0	4794	1165	41	3	676	3	DSN1	20	35396375	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		35396375	27629145	101	5279											
CLTCL1	8218	genome.wustl.edu	37	chr22	19220752	19220752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaacactggatcactttGcttggcacatttgcccgaag	11	10	9	11	1	1	0	1	0	0	0	1	2	1	1	1	2	3	3	1	2	3	3			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr22:19220752G>T	ENST00000263200.10	-	9	1530	c.1458C>A	c.(1456-1458)agC>agA	p.S486R	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S486R|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S486R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	486	Flexible linker.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGATCACTTTGCTTGGCACAT	0.493			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													168	165	166					22																	19220752		1957	4160	6117	SO:0001583	missense	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1458C>A	22.37:g.19220752G>T	ENSP00000445677:p.Ser486Arg		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.S486R	ENST00000263200.10	37	c.1458	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427603	0.43122	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22743	1.94;1.94;1.94	3.92	3.92	0.45320	Armadillo-type fold (2);	0.257041	0.39146	N	0.001455	T	0.18045	0.0433	L	0.34521	1.04	0.45995	D	0.998807	B;B	0.22746	0.074;0.073	B;B	0.26094	0.062;0.066	T	0.05835	-1.0861	10	0.20046	T	0.44	-6.2135	16.4728	0.84119	0.0:0.0:1.0:0.0	.	486;486	P53675-2;P53675	.;CLH2_HUMAN	R	486	ENSP00000439662:S486R;ENSP00000445677:S486R;ENSP00000441158:S486R	ENSP00000445677:S486R	S	-	3	2	CLTCL1	17600752	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	5.574000	0.67424	2.177000	0.69029	0.591000	0.81541	AGC	CLTCL1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.493	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0	73	0	G	NM_007098		19220752	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	19220752	G	T	19220752	3	4	19	1	0	0	0	0	1	0	0	0	3574	1310	46	3	3560	3	CLTCL1	22	19220752	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09		19220752	32083814	102	5280											
MYO18B	84700	genome.wustl.edu	37	chr22	26164786	26164786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaatgtctctaaggaCgtagggagtgaagggaagca	14	6	17	4	1	1	1	0	1	1	0	2	5	1	5	0	5	1	2	0	5	6	2	rs369200662		TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chr22:26164786C>T	ENST00000407587.2	+	4	1072	c.903C>T	c.(901-903)gaC>gaT	p.D301D	MYO18B_ENST00000536101.1_Silent_p.D301D|MYO18B_ENST00000335473.7_Silent_p.D301D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	301						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTAAGGACGTAGGGAGTG	0.587																																																	0										1,3967		0,1,1983	24	26	25		903	-4.1	0	22		25	0,8304		0,0,4152	no	coding-synonymous	MYO18B	NM_032608.5		0,1,6135	TT,TC,CC		0.0,0.0252,0.0081		301/2568	26164786	1,12271	1984	4152	6136	SO:0001819	synonymous_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.903C>T	22.37:g.26164786C>T			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D301	ENST00000407587.2	37	c.903		22																																																																																			MYO18B	-	NULL	ENSG00000133454		0.587	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	51	0	C	NM_032608		26164786	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.000	T	T	26164786	C	T	26164786	2	4	19	1	0	0	0	0	0	0	0	1	10104	535	19	1		1	MYO18B	22	26164786	Silent	SNP	C	TCGA-IG-A3YB-01A-11D-A247-09	6944034	26164786	25139780	103	5281											
PRRG1	5638	genome.wustl.edu	37	chrX	37312610	37312611	+	Frame_Shift_Ins	INS	-	-	C																															accttaatattatcaccccaINSccccccccaccagatgaagt																										TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chrX:37312610_37312611insC	ENST00000542554.1	+	5	665_666	c.393_394insC	c.(394-396)cccfs	p.P132fs	PRRG1_ENST00000449135.2_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Ins_p.P132fs|PRRG1_ENST00000378628.4_Frame_Shift_Ins_p.P132fs|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	132	Poly-Pro.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TTATCACCCCACCCCCCCCACC	0.485																																																	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	ovary(2)																																								SO:0001589	frameshift_variant	0			AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.401dupC	X.37:g.37312618_37312618dupC	ENSP00000444278:p.Pro132fs		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Frame_Shift_Ins	INS	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.P134fs	ENST00000542554.1	37	c.393_394	CCDS14239.1	X																																																																																			PRRG1	-	NULL	ENSG00000130962		0.485	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG1	HGNC	protein_coding	OTTHUMT00000056228.2		0	36	0	-	NM_000950		37312611	1	tier1		no_errors	ENST00000378628	ensembl	human	known	74_37	frame_shift_ins	19.64	45	11	INS	0.008:0.109	C	C	37312611	-	C	37312610	7	5	19	1	0	1	1	0	0	0	0	0	12647	146	6	0	485	0	PRRG1	23	37312610	Frame_Shift_Ins	INS	-	TCGA-IG-A3YB-01A-11D-A247-09		37312610	117957950	104	5282											
SLC9A7	84679	genome.wustl.edu	37	chrX	46502752	46502752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaatgagaagggtggtcGtgaacatcatctggcgagca	13	7	13	8	2	2	2	1	2	1	1	3	4	2	2	0	3	2	1	0	3	3	0			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chrX:46502752G>T	ENST00000328306.4	-	12	1557	c.1532C>A	c.(1531-1533)aCg>aAg	p.T511K		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	511					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.T511M(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AAGGGTGGTCGTGAACATCAT	0.527																																					Pancreas(118;454 1696 1930 13865 39976)												1	Substitution - Missense(1)	endometrium(1)											110	67	82					X																	46502752		2203	4300	6503	SO:0001583	missense	0			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1532C>A	X.37:g.46502752G>T	ENSP00000330320:p.Thr511Lys		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T511K	ENST00000328306.4	37	c.1532	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	G	32	5.122340	0.94429	.	.	ENSG00000065923	ENST00000328306	T	0.16324	2.35	5.33	5.33	0.75918	Cation/H+ exchanger (1);	0.229367	0.46145	D	0.000306	T	0.51736	0.1692	M	0.92691	3.335	0.58432	D	0.999995	D	0.55385	0.971	D	0.64144	0.922	T	0.65409	-0.6175	10	0.87932	D	0	.	18.1198	0.89567	0.0:0.0:1.0:0.0	.	511	Q96T83	SL9A7_HUMAN	K	511	ENSP00000330320:T511K	ENSP00000330320:T511K	T	-	2	0	SLC9A7	46387696	1.000000	0.71417	0.976000	0.42696	0.953000	0.61014	7.476000	0.81055	2.215000	0.71742	0.468000	0.43344	ACG	SLC9A7	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000065923		0.527	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1		0	25	0	G	NM_032591		46502752	-1			no_errors	ENST00000328306	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	46502752	G	T	46502752	3	4	19	1	0	0	0	0	1	0	0	0	14764	1145	40	2	669	2	SLC9A7	23	46502752	Missense_Mutation	SNP	G	TCGA-IG-A3YB-01A-11D-A247-09	9190142	46502752	108767808	105	5283											
PHF8	23133	genome.wustl.edu	37	chrX	53970565	53970565	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacctggggtgtcagcacctAcctgctgggccagctttgca	6	9	13	13	0	1	0	1	0	0	0	1	1	1	0	4	3	5	4	4	3	1	2			TCGA-IG-A3YB-01A-11D-A247-09	TCGA-IG-A3YB-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e9fe8f50-5356-4f40-a351-34ea4f99e438	3c15c909-6c3b-45cb-96e7-4aaadf93e541	g.chrX:53970565A>C	ENST00000357988.5	-	20	3116		c.e20+1		PHF8_ENST00000338946.6_Splice_Site|PHF8_ENST00000338154.6_Splice_Site|PHF8_ENST00000322659.8_Splice_Site	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8						brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCAGCACCTACCTGCTGGGC	0.562																																																	0													45	34	38					X																	53970565		2203	4300	6503	SO:0001630	splice_region_variant	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2757+1T>G	X.37:g.53970565A>C			B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Splice_Site	SNP	-	e20+2	ENST00000357988.5	37	c.2757+2	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745293	0.69418	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000396282;ENST00000443302;ENST00000322659	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7721	0.57427	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PHF8	53987290	1.000000	0.71417	0.996000	0.52242	0.948000	0.59901	7.663000	0.83820	1.653000	0.50694	0.427000	0.28365	.	PHF8	-	-	ENSG00000172943		0.562	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	-	0	38	0	A	NM_015107	Intron	53970565	-1	tier1	-	no_errors	ENST00000357988	ensembl	human	known	74_37	splice_site	68.42	18	39	SNP	1.000	C	C	53970565	A	C	53970565	5	2	19	1	0	0	0	0	0	0	1	0	11879	405	14	4	561	4	PHF8	23	53970565	Splice_Site	SNP	A	TCGA-IG-A3YB-01A-11D-A247-09	7467813	53970565	101299995	106	5284											
NOL9	79707	genome.wustl.edu	37	chr1	6610498	6610498	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattccgggcttccctttTcagttccttcttgcttttct	4	19	5	13	1	3	0	1	0	2	0	6	0	6	0	3	1	1	3	3	1	1	9			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:6610498T>C	ENST00000377705.5	-	2	606	c.574A>G	c.(574-576)Aaa>Gaa	p.K192E		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	192					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCCCTTTTCAGTTCCTTC	0.433																																																	0													133	133	133					1																	6610498		2203	4300	6503	SO:0001583	missense	0			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.574A>G	1.37:g.6610498T>C	ENSP00000366934:p.Lys192Glu		Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.K192E	ENST00000377705.5	37	c.574	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482393	0.26598	.	.	ENSG00000162408	ENST00000377705	T	0.44881	0.91	5.23	5.23	0.72850	.	0.455845	0.20923	N	0.083259	T	0.28433	0.0703	L	0.54323	1.7	0.09310	N	1	P	0.43094	0.799	B	0.32762	0.152	T	0.25502	-1.0130	10	0.07175	T	0.84	-14.408	9.2573	0.37590	0.0:0.0:0.1818:0.8182	.	192	Q5SY16	NOL9_HUMAN	E	192	ENSP00000366934:K192E	ENSP00000366934:K192E	K	-	1	0	NOL9	6533085	0.259000	0.24043	0.118000	0.21660	0.246000	0.25737	2.309000	0.43699	2.197000	0.70478	0.454000	0.30748	AAA	NOL9	-	NULL	ENSG00000162408		0.433	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	-	0	102	0	T	NM_024654		6610498	-1	tier1	-	no_errors	ENST00000377705	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.043	C	C	6610498	T	C	6610498	3	2	20	1	0	0	0	0	1	0	0	0	10567	1792	62	4	1578	4	NOL9	1	6610498	Missense_Mutation	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09		6610498	242640123	1	5285											
HSPB7	27129	genome.wustl.edu	37	chr1	16342202	16342202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgggtccacgtcctccGgcagctggcacttgtgagcg	5	8	14	14	5	0	1	0	1	0	0	4	1	3	1	3	3	2	3	3	3	0	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:16342202G>A	ENST00000311890.9	-	3	1212	c.386C>T	c.(385-387)cCg>cTg	p.P129L	HSPB7_ENST00000375718.4_Missense_Mutation_p.P204L|HSPB7_ENST00000487046.1_Missense_Mutation_p.P134L|HSPB7_ENST00000411503.1_Missense_Mutation_p.P124L|HSPB7_ENST00000406363.2_Missense_Mutation_p.P133L	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	129					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTCCTCCGGCAGCTGGCA	0.677																																																	0													71	66	68					1																	16342202		2203	4299	6502	SO:0001583	missense	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.386C>T	1.37:g.16342202G>A	ENSP00000310111:p.Pro129Leu		B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.P134L	ENST00000311890.9	37	c.401	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329122	0.81690	.	.	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82;-4.82	4.97	4.97	0.65823	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	H	0.95917	3.74	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98810	1.0743	10	0.87932	D	0	-13.731	14.9386	0.70975	0.0:0.0:1.0:0.0	.	204;150;150;217;129	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	L	124;129;204;222;83;134;133	ENSP00000391578:P124L;ENSP00000310111:P129L;ENSP00000364870:P204L;ENSP00000417966:P83L;ENSP00000419477:P134L;ENSP00000385472:P133L	ENSP00000310111:P129L	P	-	2	0	HSPB7	16214789	1.000000	0.71417	0.949000	0.38748	0.411000	0.31082	7.160000	0.77495	2.300000	0.77407	0.561000	0.74099	CCG	HSPB7	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000173641		0.677	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	HGNC	protein_coding	OTTHUMT00000026334.2	-	0	71	0	G	NM_014424		16342202	-1	tier1	-	no_errors	ENST00000487046	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.997	A	A	16342202	G	A	16342202	3	1	20	1	0	0	0	0	1	0	0	0	7449	1116	39	1	130	1	HSPB7	1	16342202	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	9731704	16342202	232908419	2	5286											
PINK1	65018	genome.wustl.edu	37	chr1	20964578	20964578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggagcgagctccggggGcccctgccttccccttggcc	3	6	15	17	2	0	0	0	0	0	0	2	2	2	1	7	5	3	2	7	5	0	2	rs201885172		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:20964578G>T	ENST00000321556.4	+	2	725	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCGGGGGCCCCTGCCTT	0.562																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0													35	36	36					1																	20964578		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.631G>T	1.37:g.20964578G>T	ENSP00000364204:p.Ala211Ser		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A211S	ENST00000321556.4	37	c.631	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851151	0.51270	.	.	ENSG00000158828	ENST00000321556	T	0.73897	-0.79	5.24	-1.93	0.07594	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.583198	0.18731	N	0.132729	T	0.41282	0.1152	N	0.08118	0	0.09310	N	0.999999	B	0.17465	0.022	B	0.11329	0.006	T	0.29274	-1.0017	10	0.07644	T	0.81	-11.5657	2.9891	0.05978	0.1604:0.3911:0.3153:0.1333	.	211	Q9BXM7	PINK1_HUMAN	S	211	ENSP00000364204:A211S	ENSP00000364204:A211S	A	+	1	0	PINK1	20837165	0.000000	0.05858	0.014000	0.15608	0.854000	0.48673	-0.329000	0.07935	-0.187000	0.10516	0.555000	0.69702	GCC	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000158828		0.562	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1		0	63	0	G	NM_032409		20964578	1			no_errors	ENST00000321556	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.068	T	T	20964578	G	T	20964578	3	4	20	1	0	0	0	0	1	0	0	0	11971	1203	42	3	637	3	PINK1	1	20964578	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	4622376	20964578	228286043	3	5287											
CPT2	1376	genome.wustl.edu	37	chr1	53675749	53675749	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgaactttaatccatttAtggctttcaatcctgaccca	10	16	4	11	0	2	2	1	2	1	0	4	2	4	2	3	1	1	1	3	1	4	6			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:53675749A>G	ENST00000371486.3	+	4	918	c.403A>G	c.(403-405)Atg>Gtg	p.M135V	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	135					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TAATCCATTTATGGCTTTCAA	0.403																																																	0													107	112	111					1																	53675749		2203	4300	6503	SO:0001583	missense	0			BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"carnitine palmitoyltransferase II"	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.403A>G	1.37:g.53675749A>G	ENSP00000360541:p.Met135Val		B2R6S0|Q5SW68|Q9BQ26	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.M135V	ENST00000371486.3	37	c.403	CCDS575.1	1	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416416	0.25552	.	.	ENSG00000157184	ENST00000371486	D	0.88741	-2.42	5.69	1.98	0.26296	.	0.229593	0.64402	N	0.000015	T	0.79805	0.4509	L	0.45137	1.4	0.49582	D	0.999809	B	0.09022	0.002	B	0.12156	0.007	T	0.63427	-0.6640	10	0.07813	T	0.8	-0.4944	6.4067	0.21668	0.7522:0.0:0.1304:0.1174	.	135	P23786	CPT2_HUMAN	V	135	ENSP00000360541:M135V	ENSP00000360541:M135V	M	+	1	0	CPT2	53448337	1.000000	0.71417	0.645000	0.29479	0.993000	0.82548	2.961000	0.49168	0.072000	0.16694	0.528000	0.53228	ATG	CPT2	-	pfam_Carn_acyl_trans	ENSG00000157184		0.403	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT2	HGNC	protein_coding	OTTHUMT00000024757.1		0	58	0	A	NM_000098		53675749	1			no_errors	ENST00000371486	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G	G	53675749	A	G	53675749	3	3	20	1	0	0	0	0	1	0	0	0	3841	449	16	4	417	4	CPT2	1	53675749	Missense_Mutation	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	32711171	53675749	195574872	4	5288											
RABGGTB	5876	genome.wustl.edu	37	chr1	76260328	76260328	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttcagcctgagctagTgagctagattcattgaattg	11	13	11	6	0	2	4	2	3	0	1	2	5	2	4	1	0	3	3	1	0	4	6			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:76260328T>G	ENST00000319942.3	+	9	1060	c.989T>G	c.(988-990)gTg>gGg	p.V330G	MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000535300.1_Missense_Mutation_p.V156G|RABGGTB_ENST00000496055.1_3'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	330					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CCTGAGCTAGTGAGCTAGATT	0.363																																																	0													114	111	112					1																	76260328		2203	4300	6503	SO:0001583	missense	0			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.989T>G	1.37:g.76260328T>G	ENSP00000317473:p.Val330Gly		Q92697	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.V330G	ENST00000319942.3	37	c.989	CCDS669.1	1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.356110	0.61293	.	.	ENSG00000137955	ENST00000535300;ENST00000319942	.	.	.	4.96	4.96	0.65561	.	0.116513	0.64402	D	0.000016	T	0.14657	0.0354	N	0.08118	0	0.80722	D	1	P	0.42973	0.796	B	0.32583	0.148	T	0.14364	-1.0475	9	0.87932	D	0	-19.9514	14.9334	0.70935	0.0:0.0:0.0:1.0	.	330	P53611	PGTB2_HUMAN	G	156;330	.	ENSP00000317473:V330G	V	+	2	0	RABGGTB	76032916	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.056000	0.71111	1.981000	0.57761	0.379000	0.24179	GTG	RABGGTB	-	NULL	ENSG00000137955		0.363	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	-	0	78	0	T	NM_004582		76260328	1	tier1	-	no_errors	ENST00000319942	ensembl	human	known	74_37	missense	9.52	37	4	SNP	1.000	G	G	76260328	T	G	76260328	3	3	20	1	0	0	0	0	1	0	0	0	13013	1696	59	4	1023	4	RABGGTB	1	76260328	Missense_Mutation	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09	22584579	76260328	172990293	5	5289											
GBP1	2633	genome.wustl.edu	37	chr1	89523677	89523677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actaggaaggggacttacgaGgcccgttgacctggatgcct	9	8	14	10	2	0	1	0	1	0	0	0	5	0	4	3	5	2	1	3	5	3	3	rs571054459		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:89523677G>T	ENST00000370473.4	-	6	1091	c.872C>A	c.(871-873)cCt>cAt	p.P291H	GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	291	GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GGACTTACGAGGCCCGTTGAC	0.428																																																	0													96	99	98					1																	89523677		2203	4300	6503	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.872C>A	1.37:g.89523677G>T	ENSP00000359504:p.Pro291His		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.P291H	ENST00000370473.4	37	c.872	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393402	0.42410	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.56103	0.48	4.48	4.48	0.54585	Guanylate-binding protein, C-terminal (3);	0.588358	0.17749	N	0.163285	T	0.64843	0.2635	M	0.88704	2.975	0.27742	N	0.944436	D	0.67145	0.996	D	0.63488	0.915	T	0.61108	-0.7129	10	0.45353	T	0.12	.	12.6463	0.56735	0.0:0.0:1.0:0.0	.	291	P32455	GBP1_HUMAN	H	291;254	ENSP00000359504:P291H	ENSP00000359504:P291H	P	-	2	0	GBP1	89296265	0.004000	0.15560	0.990000	0.47175	0.373000	0.29922	1.047000	0.30367	2.029000	0.59856	0.313000	0.20887	CCT	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.428	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3		0	52	0	G	NM_002053		89523677	-1			no_errors	ENST00000370473	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.876	T	T	89523677	G	T	89523677	3	4	20	1	0	0	0	0	1	0	0	0	6298	1000	35	3	930	3	GBP1	1	89523677	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	13263349	89523677	159726944	6	5290											
OVGP1	5016	genome.wustl.edu	37	chr1	111957574	111957574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttttccccaggggtcaCagactgataacccacagagg	10	8	11	12	0	2	3	1	1	1	2	3	3	3	3	3	4	1	0	3	4	1	3	rs386634633|rs376377993		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:111957574C>A	ENST00000369732.3	-	11	1604	c.1549G>T	c.(1549-1551)Gtg>Ttg	p.V517L		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	517					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCAGGGGTCACAGACTGATAA	0.567																																																	0																																										SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1549G>T	1.37:g.111957574C>A	ENSP00000358747:p.Val517Leu		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.V517L	ENST00000369732.3	37	c.1549	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668663	0.29604	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.05996	3.36	3.19	2.26	0.28386	.	.	.	.	.	T	0.01870	0.0059	L	0.38175	1.15	0.09310	N	0.999997	B;B	0.20887	0.049;0.049	B;B	0.16722	0.016;0.016	T	0.44221	-0.9342	9	0.72032	D	0.01	.	6.7535	0.23499	0.0:0.854:0.0:0.146	.	517;581	Q12889;Q59HH5	OVGP1_HUMAN;.	L	517;581;325	ENSP00000358747:V517L	ENSP00000358743:V581L	V	-	1	0	OVGP1	111759097	0.001000	0.12720	0.001000	0.08648	0.204000	0.24138	0.174000	0.16743	0.607000	0.29982	0.454000	0.30748	GTG	OVGP1	-	NULL	ENSG00000085465		0.567	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0	97	0	C	NM_002557		111957574	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	missense	14.29	41	7	SNP	0.010	A	A	111957574	C	A	111957574	3	1	20	1	0	0	0	0	1	0	0	0	11364	478	17	3	491	3	OVGP1	1	111957574	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	22433897	111957574	137293047	7	5291											
MGST3	4259	genome.wustl.edu	37	chr1	165620279	165620279	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtacagcacggaccctgAaaatgggcacatcttcaact	13	8	8	12	1	2	1	1	1	1	0	2	2	2	2	1	2	3	3	1	2	4	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:165620279A>T	ENST00000367889.3	+	3	586	c.146A>T	c.(145-147)gAa>gTa	p.E49V	MGST3_ENST00000367886.2_Missense_Mutation_p.E63V|MGST3_ENST00000367888.4_Missense_Mutation_p.E49V|MGST3_ENST00000367883.1_Missense_Mutation_p.E63V|MGST3_ENST00000367885.1_Missense_Mutation_p.E63V|MGST3_ENST00000367884.2_Missense_Mutation_p.E49V	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	49					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	ACGGACCCTGAAAATGGGCAC	0.483																																																	0													170	153	159					1																	165620279		2203	4300	6503	SO:0001583	missense	0			AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"Glutathione S-transferases / Microsomal"	7064	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase III", "microsomal GST-3", "microsomal GST-III"	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	ENST00000367889.3:c.146A>T	1.37:g.165620279A>T	ENSP00000356864:p.Glu49Val		B2R592|Q6ICN4	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG	p.E63V	ENST00000367889.3	37	c.188	CCDS1249.1	1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251978	0.80135	.	.	ENSG00000143198	ENST00000367889;ENST00000367888;ENST00000367885;ENST00000404549;ENST00000367884;ENST00000367883;ENST00000367886	T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.83	5.83	0.93111	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74015	0.3661	M	0.84683	2.71	0.50039	D	0.999840	P;P	0.42248	0.774;0.687	P;P	0.48089	0.566;0.544	T	0.80020	-0.1557	9	0.56958	D	0.05	-46.9711	14.1488	0.65367	1.0:0.0:0.0:0.0	.	63;49	Q5VV89;O14880	.;MGST3_HUMAN	V	49;49;63;63;49;63;63	ENSP00000356864:E49V;ENSP00000356863:E49V;ENSP00000356860:E63V;ENSP00000384372:E63V;ENSP00000356859:E49V;ENSP00000356858:E63V;ENSP00000356861:E63V	ENSP00000356858:E63V	E	+	2	0	MGST3	163886903	1.000000	0.71417	0.874000	0.34290	0.892000	0.51952	8.144000	0.89623	2.225000	0.72522	0.533000	0.62120	GAA	MGST3	-	pfam_Membr-assoc_MAPEG	ENSG00000143198		0.483	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST3	HGNC	protein_coding	OTTHUMT00000083797.3	-	0	124	0	A	NM_004528		165620279	1	tier1	-	no_errors	ENST00000367886	ensembl	human	known	74_37	missense	14.10	67	11	SNP	1.000	T	T	165620279	A	T	165620279	3	4	20	1	0	0	0	0	1	0	0	0	9600	246	9	5	152	5	MGST3	1	165620279	Missense_Mutation	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	53662705	165620279	83630342	8	5292											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200730051	200730051	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacctgttgttaatttgcTtctatcggctgaactatact	9	16	6	10	1	1	1	0	1	1	0	2	1	1	1	2	1	3	4	2	1	5	7			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:200730051T>A	ENST00000236925.4	+	2	273	c.224T>A	c.(223-225)cTt>cAt	p.L75H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L75H|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.L75H			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	75					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GTTAATTTGCTTCTATCGGCT	0.423																																																	0													171	172	172					1																	200730051		2203	4300	6503	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.224T>A	1.37:g.200730051T>A	ENSP00000236925:p.Leu75His		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.L75H	ENST00000236925.4	37	c.224		1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687715	0.88639	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.34859	1.35;1.45;1.34	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.69815	-0.5043	10	0.87932	D	0	-20.5203	15.7759	0.78214	0.0:0.0:0.0:1.0	.	75;75;75	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	H	75	ENSP00000351684:L75H;ENSP00000416800:L75H;ENSP00000236925:L75H	ENSP00000236925:L75H	L	+	2	0	CAMSAP1L1	198996674	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.525000	0.81892	2.308000	0.77769	0.533000	0.62120	CTT	CAMSAP2	-	NULL	ENSG00000118200		0.423	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0	50	0	T	NM_203459		200730051	1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	A	A	200730051	T	A	200730051	3	1	20	1	0	0	0	0	1	0	0	0	2619	1609	56	5	230	5	CAMSAP1L1	1	200730051	Missense_Mutation	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09	35109772	200730051	48520570	9	5293											
PROX1	5629	genome.wustl.edu	37	chr1	214171007	214171007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcggccaagccctccCgccaggttcctcaggtcttc	4	12	8	17	2	3	0	1	0	2	0	7	0	5	0	5	3	1	1	5	3	1	4	rs368029419		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:214171007C>T	ENST00000366958.4	+	2	1737	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	PROX1_ENST00000261454.4_Missense_Mutation_p.R377C|PROX1_ENST00000498508.2_Missense_Mutation_p.R377C|PROX1_ENST00000435016.1_Missense_Mutation_p.R377C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	377					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAAGCCCTCCCGCCAGGTTCC	0.547																																																	0								C	CYS/ARG	0,4406		0,0,2203	102	102	102		1129	5.5	1	1		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROX1	NM_002763.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	377/738	214171007	1,13005	2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1129C>T	1.37:g.214171007C>T	ENSP00000355925:p.Arg377Cys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.R377C	ENST00000366958.4	37	c.1129	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156142	0.57259	0.0	1.16E-4	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48201	0.83;0.82;0.83;0.83	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	P	0.60609	0.877	T	0.66452	-0.5920	10	0.59425	D	0.04	-3.8807	19.3843	0.94550	0.0:1.0:0.0:0.0	.	377	Q92786	PROX1_HUMAN	C	377	ENSP00000420283:R377C;ENSP00000355925:R377C;ENSP00000400694:R377C;ENSP00000261454:R377C	ENSP00000261454:R377C	R	+	1	0	PROX1	212237630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.574000	0.86865	0.563000	0.77884	CGC	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.547	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0	37	0	C	NM_002763		214171007	1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	T	T	214171007	C	T	214171007	3	4	20	1	0	0	0	0	1	0	0	0	12602	652	23	1	1131	1	PROX1	1	214171007	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	13440956	214171007	35079614	10	5294											
PTPN14	5784	genome.wustl.edu	37	chr1	214557130	214557131	+	Frame_Shift_Ins	INS	-	-	A																															ttcttgtggtgatactgaggINSgagctgggggacctcgtggc																										TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:214557130_214557131insA	ENST00000366956.5	-	13	2261_2262	c.2067_2068insT	c.(2065-2070)ctccctfs	p.P690fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	690					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGATACTGAGGGAGCTGGGGGA	0.634																																					Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001589	frameshift_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2067_2068insT	1.37:g.214557130_214557131insA	ENSP00000355923:p.Pro690fs		Q5VSI0	Frame_Shift_Ins	INS	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.P689fs	ENST00000366956.5	37	c.2068_2067	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.634	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2		0	63	0	-	NM_005401		214557131	-1	tier1		no_errors	ENST00000366956	ensembl	human	known	74_37	frame_shift_ins	36.00	16	9	INS	0.970:0.517	A	A	214557131	-	A	214557130	7	5	20	1	0	1	1	0	0	0	0	0	12826	1232	43	0	1523	0	PTPN14	1	214557130	Frame_Shift_Ins	INS	-	TCGA-IG-A3YC-01A-11D-A247-09	386123	214557130	34693491	11	5295											
CHRM3	1131	genome.wustl.edu	37	chr1	240072404	240072404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgtgcaacaaaacattCagaaccactttcaagatgct	14	10	6	11	0	3	2	2	0	1	2	3	2	3	2	1	0	5	3	1	0	5	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:240072404C>T	ENST00000255380.4	+	5	2432	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	551					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACAAAACATTCAGAACCACTT	0.498																																																	0													70	65	67					1																	240072404		2203	4300	6503	SO:0001819	synonymous_variant	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1653C>T	1.37:g.240072404C>T			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.F551	ENST00000255380.4	37	c.1653	CCDS1616.1	1																																																																																			CHRM3	-	prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	ENSG00000133019		0.498	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0	79	0	C	NM_000740		240072404	1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	silent	15.25	50	9	SNP	1.000	T	T	240072404	C	T	240072404	2	4	20	1	0	0	0	0	0	0	0	1	3385	825	29	3		3	CHRM3	1	240072404	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	25515274	240072404	9178217	12	5296											
HNRNPU	3192	genome.wustl.edu	37	chr1	245025801	245025803	+	In_Frame_Del	DEL	TCT	TCT	-																															ctgtgtcatcgaagtgttcaTcttcttcttcaacaggtggc																								rs538951206		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:245025801_245025803delTCT	ENST00000283179.9	-	3	1000_1002	c.837_839delAGA	c.(835-840)gaagat>gat	p.E279del	HNRNPU_ENST00000444376.2_In_Frame_Del_p.E260del|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	279	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GAAGTGTTCATCTTCTTCTTCAA	0.394																																					NSCLC(33;911 1010 3329 23631 49995)												0																																										SO:0001651	inframe_deletion	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.837_839delAGA	1.37:g.245025807_245025809delTCT	ENSP00000283179:p.Glu279del		O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.E279in_frame_del	ENST00000283179.9	37	c.839_837	CCDS41479.1	1																																																																																			HNRNPU	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000153187		0.394	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3		0	128	0	TCT	NM_031844		245025803	-1	tier1		no_errors	ENST00000283179	ensembl	human	known	74_37	in_frame_del	15.48	71	13	DEL	1.000:1.000:1.000	-	-	245025803	TCT	-	245025801	7	5	20	1	0	1	0	1	0	0	0	0	7300	1435	50	0	1686	0	HNRNPU	1	245025801	In_Frame_Del	DEL	TCT	TCGA-IG-A3YC-01A-11D-A247-09	4953397	245025801	4224820	13	5297											
OR2M2	391194	genome.wustl.edu	37	chr1	248344165	248344165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcatctacagcctccGcaacaaggaggtgactagag	11	7	9	14	1	2	2	1	1	1	1	4	3	4	3	4	2	3	1	4	2	4	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr1:248344165G>A	ENST00000359682.2	+	1	878	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.463																																																	0													181	173	176					1																	248344165		2203	4300	6503	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.878G>A	1.37:g.248344165G>A	ENSP00000352710:p.Arg293His		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R293H	ENST00000359682.2	37	c.878	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	g	9.089	1.001315	0.19121	.	.	ENSG00000198601	ENST00000359682	T	0.41065	1.01	2.14	0.053	0.14305	.	.	.	.	.	T	0.45316	0.1336	M	0.87971	2.92	0.09310	N	1	B	0.24675	0.109	B	0.20577	0.03	T	0.47315	-0.9127	9	0.72032	D	0.01	.	7.526	0.27656	0.2356:0.0:0.7644:0.0	.	293	Q96R28	OR2M2_HUMAN	H	293	ENSP00000352710:R293H	ENSP00000352710:R293H	R	+	2	0	OR2M2	246410788	0.126000	0.22350	0.000000	0.03702	0.001000	0.01503	2.143000	0.42187	-0.103000	0.12175	-0.391000	0.06502	CGC	OR2M2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000198601		0.463	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0	166	0	G	NM_001004688		248344165	1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	13.10	72	11	SNP	0.001	A	A	248344165	G	A	248344165	3	1	20	1	0	0	0	0	1	0	0	0	11049	1087	38	1	880	1	OR2M2	1	248344165	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	3318364	248344165	906456	14	5298											
SLC30A3	7781	genome.wustl.edu	37	chr2	27480186	27480186	+	Frame_Shift_Del	DEL	G	G	-																															tcccctagacccgtggctgtGggggggcccagcctggtgca																								rs148758588		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:27480186delG	ENST00000233535.4	-	5	965	c.613delC	c.(613-615)cacfs	p.H205fs	SLC30A3_ENST00000447008.2_Frame_Shift_Del_p.H200fs	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	205					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTGGCTGTGGGGGGGCCCA	0.657																																																	0													16	18	17					2																	27480186		2202	4299	6501	SO:0001589	frameshift_variant	0			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.613delC	2.37:g.27480186delG	ENSP00000233535:p.His205fs		Q8TC03	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.H205fs	ENST00000233535.4	37	c.613	CCDS1743.1	2																																																																																			SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000115194		0.657	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2		0	112	0	G			27480186	-1	tier1		no_errors	ENST00000233535	ensembl	human	known	74_37	frame_shift_del	15.56	38	7	DEL	0.996	-	-	27480186	G	-	27480186	7	5	20	1	0	1	0	1	0	0	0	0	14601	1348	47	0	569	0	SLC30A3	2	27480186	Frame_Shift_Del	DEL	G	TCGA-IG-A3YC-01A-11D-A247-09		27480186	215719187	15	5299	18	2									
SLC30A3	7781	genome.wustl.edu	37	chr2	27480193	27480193	+	Silent	SNP	C	C	T																															gacccgtggctgtgggggggCccagcctggtgcagcacaaa																										TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:27480193C>T	ENST00000233535.4	-	5	958	c.606G>A	c.(604-606)ggG>ggA	p.G202G	SLC30A3_ENST00000447008.2_Silent_p.G197G	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	202					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGGGGGGGCCCAGCCTGGT	0.662																																																	0													16	18	18					2																	27480193		2203	4299	6502	SO:0001819	synonymous_variant	0			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"Solute carriers"	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.606G>A	2.37:g.27480193C>T			Q8TC03	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.G202	ENST00000233535.4	37	c.606	CCDS1743.1	2																																																																																			SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000115194		0.662	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	-	0	112	0	C			27480193	-1	tier1	-	no_errors	ENST00000233535	ensembl	human	known	74_37	silent	15.22	39	7	SNP	0.997	T	T	27480193	C	T	27480193	2	4	20	1	0	0	0	0	0	0	0	1	14601	726	26	3		3	SLC30A3	2	27480193	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	7	27480193	215719180	16	5300	18	2									
CHAC2	494143	genome.wustl.edu	37	chr2	54001489	54001489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacctctggaagacattGctgaacaaatttttaatgca	13	12	7	9	0	1	2	0	1	1	1	1	3	1	3	1	1	4	3	1	1	4	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:54001489G>T	ENST00000295304.4	+	3	477	c.382G>T	c.(382-384)Gct>Tct	p.A128S	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000263634.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	128										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGAAGACATTGCTGAACAAAT	0.368																																																	0													113	112	112					2																	54001489		2203	4300	6503	SO:0001583	missense	0			BC025376	CCDS33196.1	2p16	2013-09-12	2006-09-12		ENSG00000143942	ENSG00000143942			32363	protein-coding gene	gene with protein product	"gamma-GCT acting on glutathione homolog 2"		"ChaC, cation transport regulator-like 2 (E. coli)"			23070364	Standard	NM_001008708		Approved		uc002rxk.1	Q8WUX2	OTTHUMG00000151824	ENST00000295304.4:c.382G>T	2.37:g.54001489G>T	ENSP00000295304:p.Ala128Ser		Q8WVI8	Missense_Mutation	SNP	pfam_ChaC	p.A128S	ENST00000295304.4	37	c.382	CCDS33196.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.116975	0.94385	.	.	ENSG00000143942	ENST00000295304	T	0.68181	-0.31	5.92	5.92	0.95590	Butirosin biosynthesis, BtrG-like (1);	0.000000	0.85682	D	0.000000	D	0.85115	0.5623	M	0.88031	2.925	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.86541	0.1828	10	0.66056	D	0.02	-18.8489	20.3081	0.98638	0.0:0.0:1.0:0.0	.	128	Q8WUX2	CHAC2_HUMAN	S	128	ENSP00000295304:A128S	ENSP00000295304:A128S	A	+	1	0	CHAC2	53854993	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.803000	0.99136	2.795000	0.96236	0.655000	0.94253	GCT	CHAC2	-	pfam_ChaC	ENSG00000143942		0.368	CHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAC2	HGNC	protein_coding	OTTHUMT00000324072.1	-	0	66	0	G	NM_001008708		54001489	1	tier1	-	no_errors	ENST00000295304	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	54001489	G	T	54001489	3	4	20	1	0	0	0	0	1	0	0	0	3316	1319	46	3	392	3	CHAC2	2	54001489	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	26521296	54001489	189197884	17	5301											
ANAPC1	64682	genome.wustl.edu	37	chr2	112620071	112620071	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattagaattactatttggaGaatgagaaatactatgtctc	15	14	7	5	0	1	3	0	1	1	3	2	5	1	3	0	1	2	0	0	1	8	6			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:112620071G>C	ENST00000341068.3	-	10	1929	c.1157C>G	c.(1156-1158)tCt>tGt	p.S386C		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	386					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						ACTATTTGGAGAATGAGAAAT	0.408																																																	0													46	43	44					2																	112620071		2201	4300	6501	SO:0001583	missense	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1157C>G	2.37:g.112620071G>C	ENSP00000339109:p.Ser386Cys		Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	NULL	p.S386C	ENST00000341068.3	37	c.1157	CCDS2093.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216835	0.79352	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.64	5.64	0.86602	.	0.552350	0.13594	U	0.376375	T	0.77665	0.4164	L	0.60455	1.87	0.51482	D	0.999926	D	0.69078	0.997	D	0.73708	0.981	T	0.75841	-0.3175	9	0.56958	D	0.05	-20.5779	17.8705	0.88810	0.0:0.0:1.0:0.0	.	386	Q9H1A4	APC1_HUMAN	C	386	.	ENSP00000339109:S386C	S	-	2	0	ANAPC1	112336542	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.205000	0.89743	2.645000	0.89757	0.655000	0.94253	TCT	ANAPC1	-	NULL	ENSG00000153107		0.408	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0	122	0	G	NM_022662		112620071	-1			no_errors	ENST00000341068	ensembl	human	known	74_37	missense	5.63	66	4	SNP	1.000	C	C	112620071	G	C	112620071	3	2	20	1	0	0	0	0	1	0	0	0	598	942	33	5	4833	5	ANAPC1	2	112620071	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	58618582	112620071	130579302	18	5302											
NCKAP5	344148	genome.wustl.edu	37	chr2	133483202	133483202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttcgctggttgttacctGgggcagcgctcttcagtgct	5	13	13	10	2	2	0	1	0	1	0	3	0	2	0	1	3	3	7	1	3	2	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:133483202G>T	ENST00000409261.1	-	19	6084	c.5711C>A	c.(5710-5712)cCa>cAa	p.P1904Q	NCKAP5_ENST00000405974.3_Missense_Mutation_p.P585Q|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P585Q|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1904Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1904										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTGTTACCTGGGGCAGCGCT	0.537																																																	0													77	76	76					2																	133483202		1951	4139	6090	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5711C>A	2.37:g.133483202G>T	ENSP00000387128:p.Pro1904Gln		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.P1904Q	ENST00000409261.1	37	c.5711	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705581	0.48412	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.52983	2.77;0.64;2.77;0.64	4.58	-1.62	0.08372	.	.	.	.	.	T	0.18045	0.0433	N	0.02539	-0.55	0.19300	N	0.999976	B;B	0.13594	0.001;0.008	B;B	0.14023	0.005;0.01	T	0.30387	-0.9980	9	0.06365	T	0.9	.	10.9111	0.47110	0.0762:0.0:0.1899:0.7339	.	585;1904	O14513-2;O14513	.;NCKP5_HUMAN	Q	1904;585;1904;585;585	ENSP00000387128:P1904Q;ENSP00000386952:P585Q;ENSP00000380603:P1904Q;ENSP00000385692:P585Q	ENSP00000380603:P1904Q	P	-	2	0	NCKAP5	133199672	0.985000	0.35326	0.168000	0.22838	0.771000	0.43674	-0.215000	0.09279	-0.226000	0.09899	0.563000	0.77884	CCA	NCKAP5	-	NULL	ENSG00000176771		0.537	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	94	0	G	NM_207481		133483202	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.368	T	T	133483202	G	T	133483202	3	4	20	1	0	0	0	0	1	0	0	0	10262	1348	47	3	26	3	NCKAP5	2	133483202	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	20863131	133483202	109716171	19	5303											
LRP1B	53353	genome.wustl.edu	37	chr2	141665564	141665564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgggtggtccacacaaGaaactgtcacagtcatcttc	10	11	9	11	0	3	1	2	0	1	1	5	1	4	1	1	2	2	1	1	2	2	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:141665564G>T	ENST00000389484.3	-	22	4373	c.3402C>A	c.(3400-3402)ttC>ttA	p.F1134L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1134					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCACACAAGAAACTGTCAC	0.453										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													195	161	172					2																	141665564		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3402C>A	2.37:g.141665564G>T	ENSP00000374135:p.Phe1134Leu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.F1134L	ENST00000389484.3	37	c.3402	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427384	0.25726	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.98958	-5.27;-5.27	5.58	1.79	0.24919	.	0.412136	0.24059	N	0.041940	D	0.92609	0.7652	N	0.05158	-0.105	0.24066	N	0.995995	B;B	0.17465	0.0;0.022	B;B	0.14023	0.001;0.01	D	0.84783	0.0774	10	0.08599	T	0.76	.	8.6274	0.33897	0.4292:0.0:0.5708:0.0	.	317;1134	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	L	1134;1072;279	ENSP00000374135:F1134L;ENSP00000413239:F279L	ENSP00000374135:F1134L	F	-	3	2	LRP1B	141382034	0.908000	0.30866	0.994000	0.49952	0.998000	0.95712	0.659000	0.24994	0.744000	0.32741	0.585000	0.79938	TTC	LRP1B	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000168702		0.453	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	60	0	G	NM_018557		141665564	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.726	T	T	141665564	G	T	141665564	3	4	20	1	0	0	0	0	1	0	0	0	8990	933	33	3	10677	3	LRP1B	2	141665564	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	8182362	141665564	101533809	20	5304											
OSBPL6	114880	genome.wustl.edu	37	chr2	179247154	179247154	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttccttaggcttcagAtgatgagtcttacatcagtg	8	15	8	10	0	3	3	2	2	1	1	5	3	5	3	2	1	1	1	2	1	2	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr2:179247154A>T	ENST00000190611.4	+	16	1917	c.1541A>T	c.(1540-1542)gAt>gTt	p.D514V	OSBPL6_ENST00000357080.4_Missense_Mutation_p.D447V|OSBPL6_ENST00000315022.2_Missense_Mutation_p.D518V|OSBPL6_ENST00000409045.3_Missense_Mutation_p.D483V|OSBPL6_ENST00000409631.1_Missense_Mutation_p.D478V|OSBPL6_ENST00000392505.2_Missense_Mutation_p.D539V|OSBPL6_ENST00000359685.3_Missense_Mutation_p.D478V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	514					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TAGGCTTCAGATGATGAGTCT	0.353																																																	0													111	106	108					2																	179247154		2203	4300	6503	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1541A>T	2.37:g.179247154A>T	ENSP00000190611:p.Asp514Val		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D518V	ENST00000190611.4	37	c.1553	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	A	29.0	4.969117	0.92855	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.19669	2.56;2.61;2.13;2.59;2.56;2.61;2.56	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.61703	1.905	0.80722	D	1	D;D;B;D;D;D	0.89917	0.979;0.997;0.244;0.997;0.993;1.0	P;D;B;D;P;D	0.87578	0.905;0.951;0.14;0.951;0.796;0.998	T	0.25572	-1.0128	10	0.46703	T	0.11	-22.0731	16.4237	0.83790	1.0:0.0:0.0:0.0	.	483;518;478;539;514;447	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	V	539;478;447;483;514;478;518	ENSP00000376293:D539V;ENSP00000352713:D478V;ENSP00000349591:D447V;ENSP00000387248:D483V;ENSP00000190611:D514V;ENSP00000386885:D478V;ENSP00000318723:D518V	ENSP00000190611:D514V	D	+	2	0	OSBPL6	178955400	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.278000	0.95766	2.279000	0.76181	0.533000	0.62120	GAT	OSBPL6	-	NULL	ENSG00000079156		0.353	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0	82	0	A	NM_032523		179247154	1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T	T	179247154	A	T	179247154	3	4	20	1	0	0	0	0	1	0	0	0	11320	333	12	5	1717	5	OSBPL6	2	179247154	Missense_Mutation	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	37581590	179247154	63952219	21	5305											
MED12L	116931	genome.wustl.edu	37	chr3	150883635	150883635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaatttctgcctatagggGtgactattagtcgggttttg	7	18	11	5	1	1	1	0	1	1	0	2	1	1	1	1	3	1	1	1	3	5	9			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr3:150883635G>C	ENST00000474524.1	+	10	1398	c.1360G>C	c.(1360-1362)Gtg>Ctg	p.V454L	MED12L_ENST00000273432.4_Missense_Mutation_p.V314L|MED12L_ENST00000309237.4_Missense_Mutation_p.V454L|MED12L_ENST00000422248.2_Missense_Mutation_p.V454L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	454						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCTATAGGGGTGACTATTAG	0.373																																																	0													152	145	147					3																	150883635		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1360G>C	3.37:g.150883635G>C	ENSP00000417235:p.Val454Leu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.V454L	ENST00000474524.1	37	c.1360	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813545	0.50527	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.69	5.69	0.88448	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.064020	0.64402	D	0.000005	T	0.28167	0.0695	L	0.40543	1.245	0.44946	D	0.997964	B;B;B;P	0.40794	0.232;0.45;0.244;0.729	B;B;B;B	0.40444	0.176;0.329;0.132;0.288	T	0.01776	-1.1276	10	0.29301	T	0.29	-19.6649	14.2684	0.66135	0.0:0.0:0.8511:0.1489	.	314;454;454;454	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	454;454;454;314	ENSP00000403308:V454L;ENSP00000310760:V454L;ENSP00000417235:V454L;ENSP00000273432:V314L	ENSP00000273432:V314L	V	+	1	0	MED12L	152366325	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.077000	0.57598	2.676000	0.91093	0.655000	0.94253	GTG	MED12L	-	pfam_Mediator_Med12_LCEWAV	ENSG00000144893		0.373	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	97	0	G	NM_053002		150883635	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C	C	150883635	G	C	150883635	3	2	20	1	0	0	0	0	1	0	0	0	9467	1261	44	5	1398	5	MED12L	3	150883635	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		150883635	47138795	22	5306											
YTHDC1	91746	genome.wustl.edu	37	chr4	69189889	69189889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgatctttactggtttatGttcattccaaggattggtga	8	17	9	7	1	2	1	1	1	1	0	4	3	4	2	2	3	1	2	2	3	3	7			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr4:69189889G>T	ENST00000344157.4	-	10	1737	c.1402C>A	c.(1402-1404)Cat>Aat	p.H468N	YTHDC1_ENST00000579690.1_Missense_Mutation_p.H468N|YTHDC1_ENST00000355665.3_Missense_Mutation_p.H450N	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	468	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ACTGGTTTATGTTCATTCCAA	0.353																																																	0													146	143	144					4																	69189889		2203	4300	6503	SO:0001583	missense	0			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1402C>A	4.37:g.69189889G>T	ENSP00000339245:p.His468Asn		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.H468N	ENST00000344157.4	37	c.1402	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391085	0.62066	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.25414	1.8;1.8	5.67	5.67	0.87782	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.00783	-1.19	0.80722	D	1	P;B	0.48407	0.91;0.006	D;B	0.74023	0.982;0.08	T	0.47849	-0.9085	10	0.09084	T	0.74	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	450;468	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	N	468;450	ENSP00000339245:H468N;ENSP00000347888:H450N	ENSP00000339245:H468N	H	-	1	0	YTHDC1	68872484	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.449000	0.80643	2.835000	0.97688	0.591000	0.81541	CAT	YTHDC1	-	pfam_YTH_domain,pfscan_YTH_domain	ENSG00000083896		0.353	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	-	0	124	0	G	NM_133370		69189889	-1	tier1	-	no_errors	ENST00000344157	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	69189889	G	T	69189889	3	4	20	1	0	0	0	0	1	0	0	0	17545	1377	48	3	813	3	YTHDC1	4	69189889	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		69189889	121964387	23	5307											
PPEF2	5470	genome.wustl.edu	37	chr4	76794369	76794369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttttgtagcaactgttGtgtcacatcaggcccaaaat	11	14	8	8	0	2	0	2	0	0	0	2	0	2	0	1	1	2	4	1	1	5	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr4:76794369G>T	ENST00000286719.7	-	12	1773	c.1417C>A	c.(1417-1419)Caa>Aaa	p.Q473K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	473	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGCAACTGTTGTGTCACATCA	0.478																																					NSCLC(105;1359 1603 15961 44567 47947)												0													190	172	178					4																	76794369		2203	4300	6503	SO:0001583	missense	0			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1417C>A	4.37:g.76794369G>T	ENSP00000286719:p.Gln473Lys		O14831	Missense_Mutation	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom	p.Q473K	ENST00000286719.7	37	c.1417	CCDS34013.1	4	.	.	.	.	.	.	.	.	.	.	G	2.696	-0.272098	0.05716	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	D	0.84442	-1.85	5.5	1.71	0.24356	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);Metallophosphoesterase domain (1);	0.417082	0.28026	N	0.016896	T	0.62551	0.2437	N	0.05177	-0.1	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.47923	-0.9079	10	0.07813	T	0.8	-3.38	6.9685	0.24637	0.0:0.5727:0.2725:0.1548	.	473;473	O14830-2;O14830	.;PPE2_HUMAN	K	473	ENSP00000286719:Q473K	ENSP00000286719:Q473K	Q	-	1	0	PPEF2	77013393	0.062000	0.20869	0.044000	0.18714	0.001000	0.01503	1.360000	0.34125	0.297000	0.22615	-0.147000	0.13772	CAA	PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase	ENSG00000156194		0.478	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	-	0	119	0	G	NM_006239		76794369	-1	tier1	-	no_errors	ENST00000286719	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.183	T	T	76794369	G	T	76794369	3	4	20	1	0	0	0	0	1	0	0	0	12347	1386	48	3	868	3	PPEF2	4	76794369	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	7604480	76794369	114359907	24	5308											
NKD2	85409	genome.wustl.edu	37	chr5	1034951	1034951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgggcagcagcaagaccctCcgtgtgaagctaaccgtcag	10	6	12	13	3	1	2	1	1	0	1	3	2	2	2	3	1	4	4	3	1	3	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:1034951C>T	ENST00000296849.5	+	7	736	c.507C>T	c.(505-507)ctC>ctT	p.L169L	NKD2_ENST00000382730.2_5'Flank|NKD2_ENST00000274150.4_Silent_p.L169L|NKD2_ENST00000537972.1_Silent_p.L169L	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	169	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.|Targeting to the basolateral cell membrane.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCAAGACCCTCCGTGTGAAGC	0.622																																																	0													68	55	60					5																	1034951		2201	4295	6496	SO:0001819	synonymous_variant	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.507C>T	5.37:g.1034951C>T			Q96EK8|Q9BSN0	Silent	SNP	pfscan_EF_hand_dom	p.L169	ENST00000296849.5	37	c.507	CCDS3859.1	5																																																																																			NKD2	-	NULL	ENSG00000145506		0.622	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2	-	0	48	0	C	NM_033120		1034951	1	tier1	-	no_errors	ENST00000296849	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.949	T	T	1034951	C	T	1034951	2	4	20	1	0	0	0	0	0	0	0	1	10481	842	30	3		3	NKD2	5	1034951	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09		1034951	179880309	25	5309											
SLC6A3	6531	genome.wustl.edu	37	chr5	1443252	1443252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgggcccacggcattggGctccttagccggggccacca	5	7	13	16	3	0	0	0	0	0	0	2	0	1	0	5	5	1	2	5	5	1	3	rs533057143		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:1443252G>A	ENST00000270349.9	-	2	188	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	SLC6A3_ENST00000453492.2_Missense_Mutation_p.P21S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	21					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACGGCATTGGGCTCCTTAGCC	0.607													G|||	1	0.000199681	0	0	5008	,	,		18704	0.001		0	False		,,,				2504	0																0													74	78	76					5																	1443252		2203	4300	6503	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.61C>T	5.37:g.1443252G>A	ENSP00000270349:p.Pro21Ser		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.P21S	ENST00000270349.9	37	c.61	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	G	1.389	-0.581336	0.03854	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.72051	-0.62;-0.62	4.34	-2.36	0.06663	.	0.518222	0.19441	N	0.114163	T	0.33614	0.0869	N	0.04880	-0.145	0.25003	N	0.991453	B	0.02656	0.0	B	0.08055	0.003	T	0.23476	-1.0187	10	0.06891	T	0.86	.	0.9703	0.01414	0.4439:0.1746:0.2213:0.1602	.	21	Q01959	SC6A3_HUMAN	S	21	ENSP00000270349:P21S;ENSP00000399806:P21S	ENSP00000270349:P21S	P	-	1	0	SLC6A3	1496252	0.969000	0.33509	0.086000	0.20670	0.062000	0.15995	0.205000	0.17356	-0.337000	0.08426	0.561000	0.74099	CCC	SLC6A3	-	prints_Na/ntran_symport_dopamine	ENSG00000142319		0.607	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0	68	0	G	NM_001044		1443252	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.786	A	A	1443252	G	A	1443252	3	1	20	1	0	0	0	0	1	0	0	0	14730	1203	42	3	1857	3	SLC6A3	5	1443252	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	408301	1443252	179472008	26	5310											
IL7R	3575	genome.wustl.edu	37	chr5	35876573	35876573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtcaccatgtccagcttCtaccaaaaccagtgaagtgt	12	11	7	11	0	2	1	1	1	1	0	3	1	3	1	4	0	3	1	4	0	5	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:35876573C>G	ENST00000303115.3	+	8	1494	c.1365C>G	c.(1363-1365)ttC>ttG	p.F455L	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	455					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGTCCAGCTTCTACCAAAACC	0.453			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													36	34	35					5																	35876573		2203	4300	6503	SO:0001583	missense	0			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1365C>G	5.37:g.35876573C>G	ENSP00000306157:p.Phe455Leu		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.F455L	ENST00000303115.3	37	c.1365	CCDS3911.1	5	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686726	0.68157	.	.	ENSG00000168685	ENST00000303115	T	0.52295	0.67	5.33	3.43	0.39272	.	0.057348	0.64402	N	0.000001	T	0.60779	0.2295	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.59726	-0.7400	10	0.87932	D	0	-9.645	5.7067	0.17913	0.0:0.7224:0.0:0.2776	.	455	P16871	IL7RA_HUMAN	L	455	ENSP00000306157:F455L	ENSP00000306157:F455L	F	+	3	2	IL7R	35912330	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	0.727000	0.25999	0.527000	0.28560	0.561000	0.74099	TTC	IL7R	-	NULL	ENSG00000168685		0.453	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2	-	0	75	0	C			35876573	1	tier1	-	no_errors	ENST00000303115	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	G	G	35876573	C	G	35876573	3	3	20	1	0	0	0	0	1	0	0	0	7732	912	32	5	1395	5	IL7R	5	35876573	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	34433321	35876573	145038687	27	5311											
PTGER4	5734	genome.wustl.edu	37	chr5	40681944	40681944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctccctggtggtgctcatCtgctccatcccgctcgtggt	3	12	10	16	2	2	0	1	0	1	0	6	0	5	0	4	3	2	3	4	3	0	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:40681944C>G	ENST00000302472.3	+	2	1873	c.849C>G	c.(847-849)atC>atG	p.I283M		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	283					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGGTGCTCATCTGCTCCATCC	0.657																																																	0													36	40	39					5																	40681944		2123	4074	6197	SO:0001583	missense	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.849C>G	5.37:g.40681944C>G	ENSP00000302846:p.Ile283Met		Q3MJ87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.I283M	ENST00000302472.3	37	c.849	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185767	0.78789	.	.	ENSG00000171522	ENST00000302472	T	0.44482	0.92	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.045854	0.85682	D	0.000000	T	0.63426	0.2510	M	0.65677	2.01	0.58432	D	0.999993	D	0.69078	0.997	D	0.69307	0.963	T	0.64702	-0.6345	10	0.51188	T	0.08	-33.7082	18.6347	0.91372	0.0:1.0:0.0:0.0	.	283	P35408	PE2R4_HUMAN	M	283	ENSP00000302846:I283M	ENSP00000302846:I283M	I	+	3	3	PTGER4	40717701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.736000	0.62059	2.402000	0.81655	0.561000	0.74099	ATC	PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt	ENSG00000171522		0.657	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	-	0	43	0	C	NM_000958		40681944	1	tier1	-	no_errors	ENST00000302472	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	G	G	40681944	C	G	40681944	3	3	20	1	0	0	0	0	1	0	0	0	12788	903	32	5	851	5	PTGER4	5	40681944	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	4805371	40681944	140233316	28	5312											
DEPDC1B	55789	genome.wustl.edu	37	chr5	59982979	59982979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggccgctgtgaaacaatGctcatagctcttgaaacgac	11	10	9	11	3	2	2	1	2	1	0	3	3	2	2	1	1	4	3	1	1	4	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:59982979G>T	ENST00000265036.5	-	2	191	c.124C>A	c.(124-126)Cat>Aat	p.H42N	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.H42N|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.H15N	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	42	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTGAAACAATGCTCATAGCTC	0.512																																																	0													98	89	92					5																	59982979		2203	4300	6503	SO:0001583	missense	0			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"breast cancer cell 3"					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.124C>A	5.37:g.59982979G>T	ENSP00000265036:p.His42Asn		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom	p.H42N	ENST00000265036.5	37	c.124	CCDS3977.1	5	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.595107	0.00857	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.16897	2.31;2.31;2.31	5.74	4.86	0.63082	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.330630	0.38217	N	0.001769	T	0.04363	0.0120	N	0.00217	-1.83	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30001	-0.9993	9	.	.	.	-7.2015	16.5658	0.84599	0.0:0.0:0.8685:0.1315	.	42;42	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	N	42;42;15	ENSP00000265036:H42N;ENSP00000389101:H42N;ENSP00000438320:H15N	.	H	-	1	0	DEPDC1B	60018736	0.001000	0.12720	0.035000	0.18076	0.240000	0.25518	1.166000	0.31834	1.556000	0.49512	0.561000	0.74099	CAT	DEPDC1B	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000035499		0.512	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC1B	HGNC	protein_coding	OTTHUMT00000214207.1		0	64	0	G	NM_018369		59982979	-1			no_errors	ENST00000265036	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.086	T	T	59982979	G	T	59982979	3	4	20	1	0	0	0	0	1	0	0	0	4454	1319	46	3	1505	3	DEPDC1B	5	59982979	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	19301035	59982979	120932281	29	5313											
AP3B1	8546	genome.wustl.edu	37	chr5	77511947	77511947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggattatgacaacctgccCccactcttcaacatccacta	11	10	5	15	0	2	1	1	1	1	0	3	2	3	2	4	1	3	0	4	1	4	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:77511947C>G	ENST00000255194.6	-	7	893	c.718G>C	c.(718-720)Ggg>Cgg	p.G240R	AP3B1_ENST00000519295.1_Missense_Mutation_p.G191R	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	240					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACAACCTGCCCCCACTCTTCA	0.423									Hermansky-Pudlak syndrome																																								0													140	134	136					5																	77511947		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.718G>C	5.37:g.77511947C>G	ENSP00000255194:p.Gly240Arg		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.G240R	ENST00000255194.6	37	c.718	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.113843	0.94339	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.12984	2.63;2.63	5.54	5.54	0.83059	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71639	-0.4532	10	0.87932	D	0	-6.6708	19.497	0.95077	0.0:1.0:0.0:0.0	.	240	O00203	AP3B1_HUMAN	R	240;191;240;144	ENSP00000255194:G240R;ENSP00000430597:G191R	ENSP00000255194:G240R	G	-	1	0	AP3B1	77547703	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.772000	0.85439	2.613000	0.88420	0.655000	0.94253	GGG	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000132842		0.423	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	-	0	71	0	C			77511947	-1	tier1	-	no_errors	ENST00000255194	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	G	G	77511947	C	G	77511947	3	3	20	1	0	0	0	0	1	0	0	0	744	623	22	5	2650	5	AP3B1	5	77511947	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	17528968	77511947	103403313	30	5314											
EDIL3	10085	genome.wustl.edu	37	chr5	83239272	83239272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcccagcagctctgacCgcaatgtgatcctcccgtac	8	8	9	16	2	1	2	0	2	1	0	3	2	3	2	4	0	5	5	4	0	2	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:83239272C>T	ENST00000296591.5	-	11	1827	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	EDIL3_ENST00000380138.3_Missense_Mutation_p.R460Q	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	470	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CAGCTCTGACCGCAATGTGAT	0.483																																																	0													140	128	132					5																	83239272		2203	4300	6503	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1409G>A	5.37:g.83239272C>T	ENSP00000296591:p.Arg470Gln		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R470Q	ENST00000296591.5	37	c.1409	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.145986	0.94603	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98666	-5.06;-5.06	5.52	5.52	0.82312	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98194	1.0464	10	0.87932	D	0	-20.2633	19.448	0.94855	0.0:1.0:0.0:0.0	.	460;470	O43854-2;O43854	.;EDIL3_HUMAN	Q	470;460	ENSP00000296591:R470Q;ENSP00000369483:R460Q	ENSP00000296591:R470Q	R	-	2	0	EDIL3	83275028	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.398000	0.79919	2.617000	0.88574	0.655000	0.94253	CGG	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0	152	0	C	NM_005711		83239272	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	T	T	83239272	C	T	83239272	3	4	20	1	0	0	0	0	1	0	0	0	4929	652	23	1	37	1	EDIL3	5	83239272	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	5727325	83239272	97675988	31	5315											
RHOBTB3	22836	genome.wustl.edu	37	chr5	95103749	95103749	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttgttttcccttataGattaattgcctaaggaattg	10	20	6	5	0	0	1	0	0	0	1	1	2	1	2	2	1	1	1	2	1	6	11			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr5:95103749G>T	ENST00000379982.3	+	8	1669		c.e8-1		RHOBTB3_ENST00000504179.1_Splice_Site|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3						ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTCCCTTATAGATTAATTGCC	0.348																																																	0													79	78	78					5																	95103749		2202	4300	6502	SO:0001630	splice_region_variant	0			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1162-1G>T	5.37:g.95103749G>T			A0PJA4|A8K1W9|Q8IW06	Splice_Site	SNP	-	e8-1	ENST00000379982.3	37	c.1162-1	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850792	0.51270	.	.	ENSG00000164292	ENST00000379982;ENST00000504179	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.454	0.87602	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RHOBTB3	95129505	1.000000	0.71417	0.998000	0.56505	0.683000	0.39861	5.374000	0.66167	2.857000	0.98124	0.650000	0.86243	.	RHOBTB3	-	-	ENSG00000164292		0.348	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1		0	101	0	G	NM_014899	Intron	95103749	1			no_errors	ENST00000379982	ensembl	human	known	74_37	splice_site	6.00	47	3	SNP	1.000	T	T	95103749	G	T	95103749	5	4	20	1	0	0	0	0	0	0	1	0	13380	956	33	3	1191	3	RHOBTB3	5	95103749	Splice_Site	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	11864477	95103749	85811511	32	5316											
HIST1H3B	8358	genome.wustl.edu	37	chr6	26031995	26031995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagccctaccaagtaggcCtcacaagcctcctgcagcgc	11	5	9	16	1	1	1	1	0	0	1	2	1	2	1	5	1	5	2	5	1	5	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:26031995C>T	ENST00000244661.2	-	1	293	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CCAAGTAGGCCTCACAAGCCT	0.567																																																	0													73	73	73					6																	26031995		2203	4300	6503	SO:0001819	synonymous_variant	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.294G>A	6.37:g.26031995C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E98	ENST00000244661.2	37	c.294	CCDS4573.1	6																																																																																			HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.567	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	-	0	120	0	C	NM_003537		26031995	-1	tier1	-	no_errors	ENST00000244661	ensembl	human	known	74_37	silent	7.89	70	6	SNP	1.000	T	T	26031995	C	T	26031995	2	4	20	1	0	0	0	0	0	0	0	1	7183	680	24	3		3	HIST1H3B	6	26031995	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09		26031995	145083072	33	5317											
TRIM27	5987	genome.wustl.edu	37	chr6	28875015	28875015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtctctcatcacctacctGagtataactgagcctctctt	8	15	5	13	0	4	2	2	2	2	0	6	2	4	2	3	0	3	1	3	0	3	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:28875015G>A	ENST00000377199.3	-	7	1300	c.944C>T	c.(943-945)tCa>tTa	p.S315L	TRIM27_ENST00000377194.3_Missense_Mutation_p.S315L	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	315	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.	Breakpoint for translocation to form the TRIM27/RET oncogene.			Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCACCTACCTGAGTATAACTG	0.358			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													76	79	78					6																	28875015		1511	2709	4220	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.944C>T	6.37:g.28875015G>A	ENSP00000366404:p.Ser315Leu		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.S315L	ENST00000377199.3	37	c.944	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907445	0.52333	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.60672	0.17;0.17	3.72	3.72	0.42706	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.38548	N	0.001646	T	0.27349	0.0671	N	0.14661	0.345	0.53688	D	0.999972	P;B	0.50528	0.936;0.349	P;B	0.44477	0.451;0.079	T	0.04440	-1.0951	10	0.30078	T	0.28	.	11.305	0.49329	0.0:0.0:1.0:0.0	.	315;315	P14373-2;P14373	.;TRI27_HUMAN	L	315	ENSP00000366404:S315L;ENSP00000366399:S315L	ENSP00000366399:S315L	S	-	2	0	TRIM27	28982994	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.679000	0.54634	2.383000	0.81215	0.655000	0.94253	TCA	TRIM27	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000204713		0.358	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	-	0	92	0	G	NM_030950		28875015	-1	tier1	-	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	A	A	28875015	G	A	28875015	3	1	20	1	0	0	0	0	1	0	0	0	16549	1294	45	3	605	3	TRIM27	6	28875015	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	2843020	28875015	142240052	34	5318											
BAT5	7920	genome.wustl.edu	37	chr6	31668752	31668752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacctgccagaagtagcaGcaatgtcccagcatagtgag	13	6	10	12	0	0	2	0	1	0	1	1	2	1	2	3	0	4	4	3	0	4	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:31668752G>T	ENST00000395952.3	-	4	472	c.310C>A	c.(310-312)Ctg>Atg	p.L104M	MIR4646_ENST00000580775.1_RNA|ABHD16A_ENST00000440843.2_Missense_Mutation_p.L71M|ABHD16A_ENST00000538874.1_Nonsense_Mutation_p.C5*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000375842.4_De_novo_Start_InFrame	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	104						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGAAGTAGCAGCAATGTCCCA	0.498																																																	0													104	91	95					6																	31668752		2203	4300	6503	SO:0001583	missense	0			AF129756	CCDS4713.1, CCDS54988.1	6p21.3	2013-01-17	2010-12-09	2010-12-09	ENSG00000204427	ENSG00000204427		"Abhydrolase domain containing"	13921	protein-coding gene	gene with protein product		142620	"HLA-B associated transcript 5"	BAT5		2911734, 2813433	Standard	NM_021160		Approved	NG26, D6S82E	uc003nvy.2	O95870	OTTHUMG00000031177	ENST00000395952.3:c.310C>A	6.37:g.31668752G>T	ENSP00000379282:p.Leu104Met		A2BEY3|B7Z4R6|Q5SRR1|Q5SRR2|Q8WYH0|Q9NW33	Nonsense_Mutation	SNP	NULL	p.C5*	ENST00000395952.3	37	c.15	CCDS4713.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.482400|6.482400	0.97603|0.97603	.|.	.|.	ENSG00000204427|ENSG00000204427	ENST00000538874|ENST00000395952;ENST00000440843	.|.	.|.	.|.	5.13|5.13	4.23|4.23	0.50019|0.50019	.|.	.|0.078285	.|0.52532	.|D	.|0.000066	.|T	.|0.40522	.|0.1120	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	A|A	1|1	.|P;B	.|0.47106	.|0.89;0.243	.|P;B	.|0.46585	.|0.521;0.041	.|T	.|0.36456	.|-0.9747	.|8	.|0.32370	.|T	.|0.25	-4.5763|-4.5763	13.4651|13.4651	0.61249|0.61249	0.0:0.1587:0.8413:0.0|0.0:0.1587:0.8413:0.0	.|.	.|71;104	.|B7Z4R6;O95870	.|.;ABHGA_HUMAN	X|M	5|104;71	.|.	.|ENSP00000379282:L104M	C|L	-|-	3|1	2|2	ABHD16A|ABHD16A	31776731|31776731	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.979000|0.979000	0.70002|0.70002	3.609000|3.609000	0.54117|0.54117	1.249000|1.249000	0.43950|0.43950	0.491000|0.491000	0.48974|0.48974	TGC|CTG	ABHD16A	-	NULL	ENSG00000204427		0.498	ABHD16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16A	HGNC	protein_coding	OTTHUMT00000076342.4	-	0	95	0	G			31668752	-1	tier1	-	no_errors	ENST00000538874	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	31668752	G	T	31668752	3	4	20	1	0	0	0	0	1	0	0	0	1325	962	34	3	1434	3	BAT5	6	31668752	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	2793737	31668752	139446315	35	5319											
DOM3Z	1797	genome.wustl.edu	37	chr6	31939108	31939108	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgctcacccctccaaccgGcctcggtgttccaggagcca	6	9	9	17	2	1	0	1	0	0	0	4	1	3	1	7	3	3	2	7	3	1	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:31939108G>T	ENST00000375349.3	-	2	756	c.345C>A	c.(343-345)ggC>ggA	p.G115G	DXO_ENST00000337523.5_Silent_p.G115G|STK19_ENST00000375331.2_5'Flank|DXO_ENST00000478221.1_Intron|DXO_ENST00000375356.3_Silent_p.G115G|STK19_ENST00000375333.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	115					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CCTCCAACCGGCCTCGGTGTT	0.587																																																	0													40	38	39					6																	31939108		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"DOM-3 (C. elegans) homolog Z", "dom-3 homolog Z (C. elegans)"	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.345C>A	6.37:g.31939108G>T			A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Silent	SNP	pfam_RAI1	p.G115	ENST00000375349.3	37	c.345	CCDS4732.1	6																																																																																			DXO	-	NULL	ENSG00000204348		0.587	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DXO	HGNC	protein_coding	OTTHUMT00000076592.3		0	101	0	G			31939108	-1			no_errors	ENST00000337523	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.998	T	T	31939108	G	T	31939108	2	4	20	1	0	0	0	0	0	0	0	1	4719	1190	42	3		3	DOM3Z	6	31939108	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	270356	31939108	139175959	36	5320											
EYS	346007	genome.wustl.edu	37	chr6	65146103	65146103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttttgcccgttgtccactCtaacagtagtattaatgctt	9	16	6	10	1	1	0	0	0	1	0	2	0	2	0	2	0	3	4	2	0	4	8			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:65146103C>T	ENST00000370621.3	-	28	6417	c.5891G>A	c.(5890-5892)aGa>aAa	p.R1964K	EYS_ENST00000370616.2_Missense_Mutation_p.R1964K|EYS_ENST00000503581.1_Missense_Mutation_p.R1964K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1964	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGTCCACTCTAACAGTAGT	0.343																																																	0													207	163	176					6																	65146103		692	1589	2281	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.5891G>A	6.37:g.65146103C>T	ENSP00000359655:p.Arg1964Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1964K	ENST00000370621.3	37	c.5891		6	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309896	0.23821	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.76839	-1.05;-1.05;-1.05	5.34	2.33	0.28932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.30355	0.0762	N	0.08118	0	0.80722	D	1	B;B	0.19583	0.037;0.011	B;B	0.19148	0.024;0.022	T	0.22277	-1.0221	9	0.06891	T	0.86	.	8.2566	0.31760	0.0:0.8191:0.0:0.1809	.	1964;1964	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	1964	ENSP00000424243:R1964K;ENSP00000359655:R1964K;ENSP00000359650:R1964K	ENSP00000359650:R1964K	R	-	2	0	EYS	65202824	0.999000	0.42202	0.012000	0.15200	0.007000	0.05969	1.840000	0.39230	0.155000	0.19261	0.655000	0.94253	AGA	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.343	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	71	0	C	XM_294050		65146103	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.926	T	T	65146103	C	T	65146103	3	4	20	1	0	0	0	0	1	0	0	0	5348	913	32	3	3452	3	EYS	6	65146103	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	33206995	65146103	105968964	37	5321											
EYS	346007	genome.wustl.edu	37	chr6	66200582	66200582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggttgacactggccaattAtttctgagcaattctttcct	8	16	8	9	0	2	2	0	2	2	0	3	2	3	2	2	2	1	2	2	2	3	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:66200582A>T	ENST00000370621.3	-	5	1293	c.767T>A	c.(766-768)aTa>aAa	p.I256K	EYS_ENST00000370616.2_Missense_Mutation_p.I256K|EYS_ENST00000370618.3_Missense_Mutation_p.I256K|EYS_ENST00000342421.5_Missense_Mutation_p.I256K|EYS_ENST00000503581.1_Missense_Mutation_p.I256K|EYS_ENST00000393380.2_Missense_Mutation_p.I256K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	256	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGGCCAATTATTTCTGAGCA	0.299																																																	0													65	61	62					6																	66200582		2203	4296	6499	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.767T>A	6.37:g.66200582A>T	ENSP00000359655:p.Ile256Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.I256K	ENST00000370621.3	37	c.767		6	.	.	.	.	.	.	.	.	.	.	A	3.317	-0.139567	0.06669	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.4	4.4	0.53042	.	.	.	.	.	D	0.83949	0.5365	L	0.27053	0.805	0.43279	D	0.995246	D;D;D	0.67145	0.979;0.996;0.994	P;D;P	0.65573	0.858;0.936;0.865	T	0.81743	-0.0793	9	0.17369	T	0.5	.	11.3301	0.49470	1.0:0.0:0.0:0.0	.	256;256;256	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	256	ENSP00000424243:I256K;ENSP00000359655:I256K;ENSP00000359650:I256K;ENSP00000377042:I256K;ENSP00000341818:I256K;ENSP00000359652:I256K	ENSP00000341818:I256K	I	-	2	0	EYS	66257303	1.000000	0.71417	0.963000	0.40424	0.662000	0.39071	3.446000	0.52928	1.756000	0.51951	0.455000	0.32223	ATA	EYS	-	pfscan_EG-like_dom	ENSG00000188107		0.299	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	74	0	A	XM_294050		66200582	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	T	T	66200582	A	T	66200582	3	4	20	1	0	0	0	0	1	0	0	0	5348	449	16	5	8785	5	EYS	6	66200582	Missense_Mutation	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	1054479	66200582	104914485	38	5322											
SNX14	57231	genome.wustl.edu	37	chr6	86277260	86277260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaacatacctgtaccaCggataaacaaagttttccaa	18	8	6	9	1	0	1	0	0	0	1	1	3	1	2	3	1	4	2	3	1	8	5	rs527678843		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:86277260C>T	ENST00000314673.3	-	5	629	c.453G>A	c.(451-453)ccG>ccA	p.P151P	SNX14_ENST00000513865.1_Silent_p.P151P|SNX14_ENST00000369627.2_Silent_p.P151P|SNX14_ENST00000505648.1_Silent_p.P99P|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Intron|RP11-321N4.5_ENST00000503906.1_3'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	151	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACCTGTACCACGGATAAACAA	0.279													C|||	1	0.000199681	0	0	5008	,	,		17877	0		0	False		,,,				2504	0.001																0													74	78	77					6																	86277260		2203	4298	6501	SO:0001819	synonymous_variant	0			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.453G>A	6.37:g.86277260C>T			B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.P151	ENST00000314673.3	37	c.453	CCDS5004.1	6																																																																																			SNX14	-	pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000135317		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	-	0	18	0	C	NM_153816		86277260	-1	tier1	-	no_errors	ENST00000314673	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.864	T	T	86277260	C	T	86277260	2	4	20	1	0	0	0	0	0	0	0	1	14930	523	19	1		1	SNX14	6	86277260	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	20076678	86277260	84837807	39	5323											
GPR126	57211	genome.wustl.edu	37	chr6	142723827	142723827	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaacttaacctcagccaaTattaccaacattgtggaaca	16	9	5	11	0	1	1	1	0	0	1	1	2	1	2	3	1	6	0	3	1	7	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:142723827T>C	ENST00000230173.6	+	13	2291	c.1815T>C	c.(1813-1815)aaT>aaC	p.N605N	GPR126_ENST00000367608.2_Silent_p.N577N|GPR126_ENST00000296932.8_Silent_p.N577N|GPR126_ENST00000367609.3_Silent_p.N605N	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	605					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCTCAGCCAATATTACCAACA	0.318																																																	0													60	57	58					6																	142723827		1823	4082	5905	SO:0001819	synonymous_variant	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1815T>C	6.37:g.142723827T>C			Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N605	ENST00000230173.6	37	c.1815	CCDS47490.1	6																																																																																			GPR126	-	NULL	ENSG00000112414		0.318	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	-	0	41	0	T			142723827	1	tier1	-	no_errors	ENST00000367609	ensembl	human	known	74_37	silent	26.92	19	7	SNP	0.998	C	C	142723827	T	C	142723827	2	2	20	1	0	0	0	0	0	0	0	1	6666	1403	49	4		4	GPR126	6	142723827	Silent	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09	56446567	142723827	28391240	40	5324											
AGPAT4	56895	genome.wustl.edu	37	chr6	161653159	161653159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtgaagagctgaatggtGttgatgattagccctgaggc	11	10	15	5	0	0	7	0	5	0	2	0	7	0	7	1	2	2	2	1	2	3	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:161653159G>T	ENST00000320285.4	-	2	299	c.87C>A	c.(85-87)aaC>aaA	p.N29K	AGPAT4_ENST00000457520.2_Missense_Mutation_p.N29K|AGPAT4_ENST00000366908.5_Missense_Mutation_p.N29K|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366911.5_Missense_Mutation_p.N29K|AGPAT4_ENST00000366905.3_Missense_Mutation_p.N29K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	29					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTGAATGGTGTTGATGATTA	0.517																																																	0													157	132	140					6																	161653159		2203	4300	6503	SO:0001583	missense	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.87C>A	6.37:g.161653159G>T	ENSP00000314036:p.Asn29Lys		B4DSF9|Q5TEF0	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.N29K	ENST00000320285.4	37	c.87	CCDS5280.1	6	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518553	0.44763	.	.	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.7	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.993	D;P;D;P	0.87578	0.998;0.867;0.998;0.782	T	0.69179	-0.5213	10	0.87932	D	0	-23.1015	10.7816	0.46382	0.1443:0.0:0.8557:0.0	.	29;29;29;29	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	K	29	ENSP00000355878:N29K;ENSP00000314036:N29K;ENSP00000407007:N29K;ENSP00000355875:N29K;ENSP00000355872:N29K	ENSP00000314036:N29K	N	-	3	2	AGPAT4	161573149	1.000000	0.71417	0.417000	0.26559	0.088000	0.18126	2.799000	0.47892	1.423000	0.47198	-0.142000	0.14014	AAC	AGPAT4	-	NULL	ENSG00000026652		0.517	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1	-	0	52	0	G	NM_020133		161653159	-1	tier1	-	no_errors	ENST00000320285	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	161653159	G	T	161653159	3	4	20	1	0	0	0	0	1	0	0	0	389	1368	48	3	1081	3	AGPAT4	6	161653159	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	18929332	161653159	9461908	41	5325											
C6orf118	168090	genome.wustl.edu	37	chr6	165715349	165715349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttttcttccttcccCtctctgacagcctccactgg	3	16	4	18	0	3	1	0	1	3	0	7	1	6	1	6	1	1	0	6	1	0	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr6:165715349C>G	ENST00000230301.8	-	2	482	c.462G>C	c.(460-462)gaG>gaC	p.E154D	C6orf118_ENST00000543069.1_Missense_Mutation_p.E50D	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	154										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTCCTTCCCCTCTCTGACAG	0.612																																																	0													51	60	57					6																	165715349		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.462G>C	6.37:g.165715349C>G	ENSP00000230301:p.Glu154Asp		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.E154D	ENST00000230301.8	37	c.462	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	6.973	0.549455	0.13374	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14022	2.54;2.54	4.9	-9.8	0.00490	.	1.527390	0.03916	N	0.282773	T	0.02767	0.0083	L	0.40543	1.245	0.09310	N	1	B	0.18461	0.028	B	0.16722	0.016	T	0.19976	-1.0289	10	0.26408	T	0.33	.	9.4477	0.38708	0.0:0.4405:0.3313:0.2281	.	154	Q5T5N4	CF118_HUMAN	D	154;50	ENSP00000230301:E154D;ENSP00000439288:E50D	ENSP00000230301:E154D	E	-	3	2	C6orf118	165635339	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.197000	0.03038	-2.201000	0.00746	-1.202000	0.01658	GAG	C6orf118	-	superfamily_Ribonuclease/ribotoxin	ENSG00000112539		0.612	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	62	0	C	NM_144980		165715349	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.000	G	G	165715349	C	G	165715349	3	3	20	1	0	0	0	0	1	0	0	0	2330	680	24	5	979	5	C6orf118	6	165715349	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	4062190	165715349	5399718	42	5326											
ERV3	2086	genome.wustl.edu	37	chr7	64452476	64452476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatcttggggcattagtTcccttgcttcccatggccat	7	15	8	11	0	1	0	0	0	1	0	3	0	3	0	3	3	1	3	3	3	3	6			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:64452476T>A	ENST00000394323.2	-	2	1429	c.929A>T	c.(928-930)gAa>gTa	p.E310V	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	310						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gggcattagttcccttgcttc	0.483																																																	0													119	115	116					7																	64452476		1939	4137	6076	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.929A>T	7.37:g.64452476T>A	ENSP00000391594:p.Glu310Val			Missense_Mutation	SNP	NULL	p.E310V	ENST00000394323.2	37	c.929	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	11.49	1.653623	0.29425	.	.	ENSG00000213462	ENST00000394323	T	0.17528	2.27	0.109	0.109	0.14578	.	.	.	.	.	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.19679	-1.0298	8	0.59425	D	0.04	.	.	.	.	.	310	Q14264	ENR1_HUMAN	V	310	ENSP00000391594:E310V	ENSP00000391594:E310V	E	-	2	0	ERV3-1	64089911	0.174000	0.23070	0.132000	0.22025	0.135000	0.20990	0.198000	0.17217	0.156000	0.19299	0.155000	0.16302	GAA	ERV3-1	-	NULL	ENSG00000213462		0.483	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0	107	0	T	NM_001007253		64452476	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	missense	17.19	53	11	SNP	0.158	A	A	64452476	T	A	64452476	3	1	20	1	0	0	0	0	1	0	0	0	5261	1783	62	5	889	5	ERV3	7	64452476	Missense_Mutation	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09		64452476	94686187	43	5327											
SEMA3C	10512	genome.wustl.edu	37	chr7	80432008	80432008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaagtgtgtttctgggcCgtcttcatctgttaccgagc	7	14	10	10	2	5	0	2	0	3	0	5	1	5	0	2	1	2	2	2	1	2	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:80432008C>T	ENST00000265361.3	-	9	1450	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	SEMA3C_ENST00000536800.1_Missense_Mutation_p.G149S|SEMA3C_ENST00000419255.2_Missense_Mutation_p.G297S|SEMA3C_ENST00000544525.1_Missense_Mutation_p.G315S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	297	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTTCTGGGCCGTCTTCATCT	0.393																																																	0													119	109	112					7																	80432008		2203	4300	6503	SO:0001583	missense	0			AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"Semaphorins", "Immunoglobulin superfamily / I-set domain containing"	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.889G>A	7.37:g.80432008C>T	ENSP00000265361:p.Gly297Ser		B4DRL8	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.G315S	ENST00000265361.3	37	c.943	CCDS5596.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.698506	0.96802	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.89785	3.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.983;0.99	T	0.69165	-0.5217	10	0.72032	D	0.01	.	19.3601	0.94434	0.0:1.0:0.0:0.0	.	149;315;297	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	S	297;297;315;149	ENSP00000265361:G297S;ENSP00000411193:G297S;ENSP00000445649:G315S;ENSP00000438258:G149S	ENSP00000265361:G297S	G	-	1	0	SEMA3C	80269944	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.802000	0.85969	2.581000	0.87130	0.585000	0.79938	GGC	SEMA3C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075223		0.393	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3C	HGNC	protein_coding	OTTHUMT00000253279.1		0	48	0	C	NM_006379		80432008	-1			no_errors	ENST00000544525	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	80432008	C	T	80432008	3	4	20	1	0	0	0	0	1	0	0	0	14071	652	23	1	1406	1	SEMA3C	7	80432008	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	15979532	80432008	78706655	44	5328											
CACNA2D1	781	genome.wustl.edu	37	chr7	81964469	81964469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaccagggctttagatctGttgctcagaagtttctcaat	10	13	8	10	0	3	2	2	0	2	2	4	2	3	2	2	1	1	4	2	1	3	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:81964469G>A	ENST00000356253.5	-	3	531	c.276C>T	c.(274-276)aaC>aaT	p.N92N	CACNA2D1_ENST00000423588.1_Silent_p.N92N|CACNA2D1_ENST00000356860.3_Silent_p.N92N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	92					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTTTAGATCTGTTGCTCAGAA	0.348																																																	0													185	192	189					7																	81964469		2203	4300	6503	SO:0001819	synonymous_variant	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.276C>T	7.37:g.81964469G>A			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.N92	ENST00000356253.5	37	c.276		7																																																																																			CACNA2D1	-	NULL	ENSG00000153956		0.348	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	80	0	G			81964469	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	silent	17.78	37	8	SNP	1.000	A	A	81964469	G	A	81964469	2	1	20	1	0	0	0	0	0	0	0	1	2555	1368	48	3		3	CACNA2D1	7	81964469	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	1532461	81964469	77174194	45	5329											
SEMA3A	10371	genome.wustl.edu	37	chr7	83592579	83592579	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagaccagcgctctctgcGacttcggactgcattccaaa	11	9	8	13	3	1	1	0	0	1	1	4	3	2	2	2	1	3	2	2	1	3	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:83592579G>T	ENST00000265362.4	-	16	2116	c.1802C>A	c.(1801-1803)tCg>tAg	p.S601*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.S601*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	601	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CGCTCTCTGCGACTTCGGACT	0.443																																																	0													160	154	156					7																	83592579		2203	4300	6503	SO:0001587	stop_gained	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1802C>A	7.37:g.83592579G>T	ENSP00000265362:p.Ser601*			Nonsense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S601*	ENST00000265362.4	37	c.1802	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.655195	0.98415	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	.	.	.	6.05	6.05	0.98169	.	0.106561	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	.	.	.	X	601	.	ENSP00000265362:S601X	S	-	2	0	SEMA3A	83430515	1.000000	0.71417	0.969000	0.41365	0.512000	0.34134	9.414000	0.97362	2.878000	0.98634	0.650000	0.86243	TCG	SEMA3A	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000075213		0.443	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	77	0	G	NM_006080		83592579	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	T	T	83592579	G	T	83592579	4	4	20	1	0	0	0	0	0	1	0	0	14069	1059	37	2	521	2	SEMA3A	7	83592579	Nonsense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	1628110	83592579	75546084	46	5330											
TFPI2	7980	genome.wustl.edu	37	chr7	93519957	93519957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtcaggaaaagcagcaGaatcgacagccccagggggc	12	3	13	13	2	1	1	1	0	0	1	3	3	2	2	3	3	3	2	3	3	3	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:93519957G>T	ENST00000222543.5	-	1	346	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	TFPI2_ENST00000545378.1_Missense_Mutation_p.L12M|GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	12					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AAAAGCAGCAGAATCGACAGC	0.697																																																	0													21	26	25					7																	93519957		2182	4275	6457	SO:0001583	missense	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.34C>A	7.37:g.93519957G>T	ENSP00000222543:p.Leu12Met		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.L12M	ENST00000222543.5	37	c.34	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749840	0.49257	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.57752	0.54;0.38	3.98	3.08	0.35506	.	0.227359	0.37095	N	0.002254	T	0.61999	0.2392	L	0.49126	1.545	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.49457	-0.8938	10	0.54805	T	0.06	.	8.1354	0.31052	0.1112:0.0:0.8888:0.0	.	12;12;12	Q8NAK6;F5H3J8;P48307	.;.;TFPI2_HUMAN	M	12	ENSP00000222543:L12M;ENSP00000438861:L12M	ENSP00000222543:L12M	L	-	1	2	TFPI2	93357893	0.866000	0.29940	0.086000	0.20670	0.031000	0.12232	0.990000	0.29642	1.230000	0.43646	0.313000	0.20887	CTG	TFPI2	-	pirsf_Prot_inhib_I2_TFPI	ENSG00000105825		0.697	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	-	0	18	0	G	NM_006528		93519957	-1	tier1	-	no_errors	ENST00000222543	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.113	T	T	93519957	G	T	93519957	3	4	20	1	0	0	0	0	1	0	0	0	15856	933	33	3	693	3	TFPI2	7	93519957	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	9927378	93519957	65618706	47	5331											
ASNS	440	genome.wustl.edu	37	chr7	97481609	97481609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagtgggtcagcgtgcGggcagaagggtcagtggcat	7	9	18	7	2	2	1	2	0	0	1	2	1	2	1	0	4	2	3	0	4	2	2	rs398122974		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:97481609G>C	ENST00000394309.3	-	13	2119	c.1648C>G	c.(1648-1650)Cgc>Ggc	p.R550G	ASNS_ENST00000455086.1_Missense_Mutation_p.R467G|ASNS_ENST00000422745.1_Missense_Mutation_p.R529G|ASNS_ENST00000175506.4_Missense_Mutation_p.R550G|ASNS_ENST00000437628.1_Missense_Mutation_p.R467G|ASNS_ENST00000444334.1_Missense_Mutation_p.R529G|ASNS_ENST00000394308.3_Missense_Mutation_p.R550G	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	550			R -> C (in ASNSD; increases level of protein abundance). {ECO:0000269|PubMed:24139043}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTCAGCGTGCGGGCAGAAGGG	0.507																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													81	72	75					7																	97481609		2203	4300	6503	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1648C>G	7.37:g.97481609G>C	ENSP00000377846:p.Arg550Gly		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.R550G	ENST00000394309.3	37	c.1648	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004356	0.74932	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.58060	0.38;0.38;0.36;0.38;0.41;0.36;0.41	5.23	5.23	0.72850	.	0.052893	0.85682	D	0.000000	T	0.80999	0.4732	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86627	0.1883	10	0.87932	D	0	-7.426	16.6738	0.85273	0.0:0.0:1.0:0.0	.	550	P08243	ASNS_HUMAN	G	550;550;467;550;529;467;529	ENSP00000175506:R550G;ENSP00000377846:R550G;ENSP00000414379:R467G;ENSP00000377845:R550G;ENSP00000414901:R529G;ENSP00000408472:R467G;ENSP00000406994:R529G	ENSP00000175506:R550G	R	-	1	0	ASNS	97319545	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.809000	0.62591	2.609000	0.88269	0.561000	0.74099	CGC	ASNS	-	NULL	ENSG00000070669		0.507	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1	-	0	54	0	G	NM_001673, NM_183356		97481609	-1	tier1	-	no_errors	ENST00000175506	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	C	C	97481609	G	C	97481609	3	2	20	1	0	0	0	0	1	0	0	0	1049	1116	39	5	41	5	ASNS	7	97481609	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	3961652	97481609	61657054	48	5332											
NRCAM	4897	genome.wustl.edu	37	chr7	107872803	107872803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaatgttattagaaactgCagctccgcgttcgttccttg	10	13	8	10	3	0	1	0	0	0	1	3	1	2	1	2	0	4	5	2	0	5	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr7:107872803C>A	ENST00000425651.2	-	4	393	c.394G>T	c.(394-396)Gca>Tca	p.A132S	NRCAM_ENST00000413765.2_Missense_Mutation_p.A132S|NRCAM_ENST00000379028.3_Missense_Mutation_p.A132S|NRCAM_ENST00000379024.4_Missense_Mutation_p.A132S|NRCAM_ENST00000351718.4_Missense_Mutation_p.A126S|NRCAM_ENST00000379022.4_Missense_Mutation_p.A132S	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	132	Ig-like 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTAGAAACTGCAGCTCCGCGT	0.458																																																	0													184	166	172					7																	107872803		2203	4300	6503	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.394G>T	7.37:g.107872803C>A	ENSP00000401244:p.Ala132Ser		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A132S	ENST00000425651.2	37	c.394	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646882	0.87958	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67;2.67;2.67	4.9	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D	0.76494	0.978;0.999;0.983;0.978;0.997	D;D;D;D;D	0.91635	0.98;0.999;0.988;0.953;0.997	T	0.34950	-0.9808	10	0.87932	D	0	.	18.4727	0.90781	0.0:1.0:0.0:0.0	.	132;132;132;126;132	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	S	132;132;132;132;126;132;132;132;126;126	ENSP00000368314:A132S;ENSP00000407858:A132S;ENSP00000325269:A126S;ENSP00000368310:A132S;ENSP00000401244:A132S;ENSP00000368308:A132S;ENSP00000390421:A126S	ENSP00000325269:A126S	A	-	1	0	NRCAM	107660039	1.000000	0.71417	0.933000	0.37362	0.424000	0.31475	7.750000	0.85110	2.422000	0.82143	0.655000	0.94253	GCA	NRCAM	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000091129		0.458	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	-	0	84	0	C	NM_001037132		107872803	-1	tier1	-	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	9.00	91	9	SNP	1.000	A	A	107872803	C	A	107872803	3	1	20	1	0	0	0	0	1	0	0	0	10683	710	25	3	3658	3	NRCAM	7	107872803	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	10391194	107872803	51265860	49	5333											
ZFPM2	23414	genome.wustl.edu	37	chr8	106431482	106431482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttttccacagaatttGggcctgaaaatctgagctgc	12	11	9	9	0	1	3	0	2	1	1	2	3	2	3	2	1	3	2	2	1	4	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr8:106431482G>C	ENST00000407775.2	+	2	401	c.151G>C	c.(151-153)Ggg>Cgg	p.G51R	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	51					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CACAGAATTTGGGCCTGAAAA	0.388																																																	0													111	110	110					8																	106431482		1857	4093	5950	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.151G>C	8.37:g.106431482G>C	ENSP00000384179:p.Gly51Arg		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G51R	ENST00000407775.2	37	c.151	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596443	0.46318	.	.	ENSG00000169946	ENST00000407775	T	0.18657	2.2	5.46	4.57	0.56435	.	0.191546	0.32093	N	0.006600	T	0.15825	0.0381	N	0.14661	0.345	0.80722	D	1	B	0.23249	0.082	B	0.27796	0.083	T	0.04191	-1.0970	10	0.46703	T	0.11	.	16.1687	0.81788	0.0:0.1337:0.8663:0.0	.	51	Q8WW38	FOG2_HUMAN	R	51	ENSP00000384179:G51R	ENSP00000384179:G51R	G	+	1	0	ZFPM2	106500658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.543000	0.82106	1.293000	0.44690	0.655000	0.94253	GGG	ZFPM2	-	NULL	ENSG00000169946		0.388	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	50	0	G			106431482	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	C	C	106431482	G	C	106431482	3	2	20	1	0	0	0	0	1	0	0	0	17706	1348	47	5	157	5	ZFPM2	8	106431482	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		106431482	39932540	50	5334											
PPP3R2	116443	genome.wustl.edu	37	chr9	104356907	104356907	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccatctttatccatgtcGtaaatgctgaacgcaaacct	12	12	6	11	2	1	1	0	1	1	0	3	1	2	1	3	0	4	3	3	0	6	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr9:104356907G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Silent_p.Y102Y	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TATCCATGTCGTAAATGCTGA	0.537																																																	0													149	135	140					9																	104356907		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15265C>T	9.37:g.104356907G>A			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.Y102	ENST00000361820.3	37	c.306	CCDS6758.1	9																																																																																			PPP3R2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000188386		0.537	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	-	0	109	0	G			104356907	-1	tier1	-	no_errors	ENST00000374806	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	A	A	104356907	G	A	104356907	1	1	20	0	1	0	0	0	0	0	0	0	12443	1140	40	1		1	PPP3R2	9	104356907	Intron	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		104356907	36856524	51	5335											
ARMC3	219681	genome.wustl.edu	37	chr10	23292215	23292215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttaacgtatcaggaactCggaaaaataaattcagtgag	18	9	9	5	2	2	1	2	1	0	0	3	3	2	3	0	2	2	2	0	2	8	4	rs148669748		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr10:23292215C>T	ENST00000298032.5	+	13	1687	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	ARMC3_ENST00000409049.3_Missense_Mutation_p.R535W|ARMC3_ENST00000376528.4_Missense_Mutation_p.R272W|ARMC3_ENST00000409983.3_Missense_Mutation_p.R535W	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	535						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATCAGGAACTCGGAAAAATAA	0.353																																																	0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	94	94	94		1603	3.4	1	10	dbSNP_134	94	0,8600		0,0,4300	no	missense	ARMC3	NM_173081.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	535/873	23292215	1,13005	2203	4300	6503	SO:0001583	missense	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1603C>T	10.37:g.23292215C>T	ENSP00000298032:p.Arg535Trp		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R535W	ENST00000298032.5	37	c.1603	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859771	0.71834	2.27E-4	0.0	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.44881	0.94;0.94;0.91;2.17	5.53	3.44	0.39384	Armadillo-like helical (1);	0.585375	0.18239	N	0.147281	T	0.62974	0.2472	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.941	T	0.66732	-0.5849	10	0.87932	D	0	-8.7262	12.1948	0.54290	0.1331:0.7385:0.1284:0.0	.	535;535	Q5W041-4;Q5W041	.;ARMC3_HUMAN	W	535;535;471;535;272	ENSP00000298032:R535W;ENSP00000386943:R535W;ENSP00000387288:R535W;ENSP00000365711:R272W	ENSP00000298032:R535W	R	+	1	2	ARMC3	23332221	0.969000	0.33509	1.000000	0.80357	0.752000	0.42762	2.313000	0.43735	2.590000	0.87494	0.563000	0.77884	CGG	ARMC3	-	NULL	ENSG00000165309		0.353	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	-	0	56	0	C	NM_173081		23292215	1	tier1	rs148669748	no_errors	ENST00000298032	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.995	T	T	23292215	C	T	23292215	3	4	20	1	0	0	0	0	1	0	0	0	953	875	31	1	1649	1	ARMC3	10	23292215	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09		23292215	112242532	52	5336											
ZNF488	118738	genome.wustl.edu	37	chr10	48370969	48370969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaggcccagctggcagcaAagtcttctctgtgtggccca	8	8	12	13	0	2	1	0	0	2	1	3	1	2	1	2	3	2	3	2	3	1	1	rs140082282		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr10:48370969A>G	ENST00000395702.2	+	2	664	c.437A>G	c.(436-438)aAa>aGa	p.K146R	ZNF488_ENST00000494156.1_3'UTR|ZNF488_ENST00000586537.1_Missense_Mutation_p.K39R			Q96MN9	ZN488_HUMAN	zinc finger protein 488	146					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GCTGGCAGCAAAGTCTTCTCT	0.607																																																	0									ARG/LYS	0,4406		0,0,2203	49	49	49		437	-0.3	0	10	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF488	NM_153034.2	26	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	146/341	48370969	1,13005	2203	4300	6503	SO:0001583	missense	0			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.437A>G	10.37:g.48370969A>G	ENSP00000379054:p.Lys146Arg		Q05CE0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K146R	ENST00000395702.2	37	c.437	CCDS7217.1	10	.	.	.	.	.	.	.	.	.	.	a	5.496	0.276492	0.10403	0.0	1.16E-4	ENSG00000165388	ENST00000395702	T	0.22134	1.97	5.32	-0.325	0.12702	.	0.797688	0.11158	U	0.593394	T	0.09598	0.0236	N	0.08118	0	0.09310	N	1	B	0.25521	0.128	B	0.23574	0.047	T	0.29518	-1.0009	10	0.48119	T	0.1	.	5.9667	0.19328	0.3972:0.4562:0.0:0.1466	.	146	Q96MN9	ZN488_HUMAN	R	146	ENSP00000379054:K146R	ENSP00000379054:K146R	K	+	2	0	ZNF488	47990975	0.104000	0.21937	0.000000	0.03702	0.265000	0.26407	0.374000	0.20501	-0.352000	0.08237	-1.504000	0.00955	AAA	ZNF488	-	NULL	ENSG00000165388		0.607	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	HGNC	protein_coding	OTTHUMT00000314632.1	-	0	72	0	A	NM_153034		48370969	1	tier1	rs140082282	no_errors	ENST00000395702	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.003	G	G	48370969	A	G	48370969	3	3	20	1	0	0	0	0	1	0	0	0	17988	14	1	4	439	4	ZNF488	10	48370969	Missense_Mutation	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	25078754	48370969	87163778	53	5337											
LRRC56	115399	genome.wustl.edu	37	chr11	550123	550123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgagcccactgtgcctgCtggaacaattggaggtgctg	8	9	13	11	0	0	1	0	1	0	0	0	3	0	3	3	3	5	2	3	3	2	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:550123C>A	ENST00000270115.7	+	8	975	c.475C>A	c.(475-477)Ctg>Atg	p.L159M		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	159										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGTGCCTGCTGGAACAATT	0.667																																																	0													105	98	100					11																	550123		2203	4300	6503	SO:0001583	missense	0				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.475C>A	11.37:g.550123C>A	ENSP00000270115:p.Leu159Met		Q8N3Q4	Missense_Mutation	SNP	NULL	p.L159M	ENST00000270115.7	37	c.475	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	C	17.10	3.304294	0.60305	.	.	ENSG00000161328	ENST00000270115	T	0.31769	1.48	5.1	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.57577	0.2063	M	0.88512	2.96	0.44635	D	0.997614	D	0.89917	1.0	D	0.66979	0.948	T	0.64309	-0.6438	10	0.56958	D	0.05	-27.8268	11.8346	0.52316	0.0:0.9103:0.0:0.0897	.	159	Q8IYG6	LRC56_HUMAN	M	159	ENSP00000270115:L159M	ENSP00000270115:L159M	L	+	1	2	LRRC56	540123	1.000000	0.71417	0.998000	0.56505	0.657000	0.38888	2.231000	0.43009	2.373000	0.80994	0.491000	0.48974	CTG	LRRC56	-	NULL	ENSG00000161328		0.667	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	-	0	109	0	C	NM_198075		550123	1	tier1	-	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	A	A	550123	C	A	550123	3	1	20	1	0	0	0	0	1	0	0	0	9047	796	28	3	493	3	LRRC56	11	550123	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09		550123	134456393	54	5338											
FAM160A2	84067	genome.wustl.edu	37	chr11	6239886	6239886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggggcgtggtgccgacaaCagcgtgggattagggagaga	9	6	20	6	3	0	1	0	0	0	1	0	5	0	3	1	5	3	0	1	5	2	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:6239886C>G	ENST00000449352.2	-	8	1642	c.1379G>C	c.(1378-1380)tGt>tCt	p.C460S	FAM160A2_ENST00000524416.1_Missense_Mutation_p.C460S|FAM160A2_ENST00000265978.4_Missense_Mutation_p.C460S			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	460					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGCCGACAACAGCGTGGGAT	0.587																																																	0													172	139	150					11																	6239886		2201	4296	6497	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1379G>C	11.37:g.6239886C>G	ENSP00000416918:p.Cys460Ser		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.C460S	ENST00000449352.2	37	c.1379	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678487	0.68042	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.19532	2.77;2.76;2.14	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	M	0.79475	2.455	0.52501	D	0.999958	B;B;P	0.50272	0.37;0.327;0.933	B;B;P	0.49047	0.12;0.084;0.599	T	0.30679	-0.9970	10	0.56958	D	0.05	-26.5933	13.6295	0.62188	0.0:0.9262:0.0:0.0738	.	460;460;460	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	S	460;385;460;460	ENSP00000416918:C460S;ENSP00000265978:C460S;ENSP00000431773:C460S	ENSP00000265978:C460S	C	-	2	0	FAM160A2	6196462	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.440000	0.80464	1.551000	0.49450	0.650000	0.86243	TGT	FAM160A2	-	NULL	ENSG00000051009		0.587	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1		0	64	0	C	NM_032127		6239886	-1			no_errors	ENST00000265978	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	G	G	6239886	C	G	6239886	3	3	20	1	0	0	0	0	1	0	0	0	5488	478	17	5	1601	5	FAM160A2	11	6239886	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	5689763	6239886	128766630	55	5339											
CCDC88B	283234	genome.wustl.edu	37	chr11	64111870	64111870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattcaggccccgcagttGctgggaggagagacagaggg	12	5	16	8	1	1	2	1	0	0	2	1	5	1	4	2	4	1	3	2	4	2	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:64111870G>T	ENST00000356786.5	+	14	1901	c.1857G>T	c.(1855-1857)ttG>ttT	p.L619F	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	619						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCCGCAGTTGCTGGGAGGAG	0.647																																																	0													30	33	32					11																	64111870		2201	4297	6498	SO:0001583	missense	0			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1857G>T	11.37:g.64111870G>T	ENSP00000349238:p.Leu619Phe		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_Hook-related_fam	p.L619F	ENST00000356786.5	37	c.1857	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	g	9.273	1.046177	0.19748	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.26373	1.74	2.75	-3.78	0.04333	.	.	.	.	.	T	0.15998	0.0385	N	0.24115	0.695	0.09310	N	0.999999	B;P;B	0.41498	0.41;0.752;0.41	B;P;B	0.45099	0.146;0.469;0.146	T	0.12785	-1.0534	9	0.56958	D	0.05	.	1.9259	0.03317	0.1161:0.1586:0.2466:0.4787	.	619;268;619	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	F	619	ENSP00000349238:L619F	ENSP00000349238:L619F	L	+	3	2	CCDC88B	63868446	0.001000	0.12720	0.000000	0.03702	0.183000	0.23260	0.371000	0.20450	-0.896000	0.03915	-0.724000	0.03597	TTG	CCDC88B	-	NULL	ENSG00000168071		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	-	0	103	0	G	NM_032251		64111870	1	tier1	-	no_errors	ENST00000356786	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T	T	64111870	G	T	64111870	3	4	20	1	0	0	0	0	1	0	0	0	2871	1310	46	3	1911	3	CCDC88B	11	64111870	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	57871984	64111870	70894646	56	5340											
SCYL1	57410	genome.wustl.edu	37	chr11	65304155	65304155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctcactcacctccaagCtgatccgttcgcacccaacc	8	9	4	20	2	3	1	2	1	1	0	7	1	5	1	6	0	2	3	6	0	2	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:65304155C>T	ENST00000270176.5	+	13	1827	c.1750C>T	c.(1750-1752)Ctg>Ttg	p.L584L	SCYL1_ENST00000279270.6_Silent_p.L584L|SCYL1_ENST00000524944.1_Silent_p.L584L|SCYL1_ENST00000420247.2_Silent_p.L584L|SCYL1_ENST00000527009.1_Silent_p.L441L|SCYL1_ENST00000525364.1_Silent_p.L584L|SCYL1_ENST00000533862.1_Silent_p.L584L	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	584					peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CACCTCCAAGCTGATCCGTTC	0.617																																																	0													116	132	127					11																	65304155		2147	4242	6389	SO:0001819	synonymous_variant	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.1750C>T	11.37:g.65304155C>T			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.L584	ENST00000270176.5	37	c.1750	CCDS41672.1	11																																																																																			SCYL1	-	NULL	ENSG00000142186		0.617	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	-	0	64	0	C	NM_020680		65304155	1	tier1	-	no_errors	ENST00000270176	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T	T	65304155	C	T	65304155	2	4	20	1	0	0	0	0	0	0	0	1	13992	796	28	3		3	SCYL1	11	65304155	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	1192285	65304155	69702361	57	5341											
HYOU1	10525	genome.wustl.edu	37	chr11	118922241	118922241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttaaaggtgatgactttgcGttgagggtagggccccatcc	8	11	14	8	1	0	3	0	3	0	0	1	3	1	3	3	3	1	3	3	3	3	4	rs139920723		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:118922241G>A	ENST00000404233.3	-	13	1559	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	HYOU1_ENST00000529972.1_Missense_Mutation_p.R479C|HYOU1_ENST00000525859.1_Missense_Mutation_p.R479C|HYOU1_ENST00000543287.1_Missense_Mutation_p.R392C	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	479					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ATGACTTTGCGTTGAGGGTAG	0.557																																																	0								G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	223	181	195		1435,1435	5.3	1	11	dbSNP_134	195	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense	HYOU1	NM_001130991.1,NM_006389.3	180,180	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	479/1000,479/1000	118922241	1,12989	2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1435C>T	11.37:g.118922241G>A	ENSP00000384144:p.Arg479Cys		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R479C	ENST00000404233.3	37	c.1435	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492229	0.84962	0.0	1.16E-4	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00986	5.47;5.47;5.47;5.47;5.47	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.07007	0.0178	M	0.84773	2.715	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.998;0.998	P;D;P;P	0.69479	0.888;0.964;0.851;0.851	T	0.01140	-1.1439	10	0.87932	D	0	-12.6882	19.0611	0.93093	0.0:0.0:1.0:0.0	.	470;523;479;479	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	C	479;470;479;479;328;479;522;392;479	ENSP00000384144:R479C;ENSP00000437313:R479C;ENSP00000433397:R479C;ENSP00000442727:R392C;ENSP00000431874:R479C	ENSP00000278752:R470C	R	-	1	0	HYOU1	118427451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.086000	0.71352	2.735000	0.93741	0.655000	0.94253	CGC	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0	165	0	G	NM_006389		118922241	-1	tier1	rs139920723	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	A	A	118922241	G	A	118922241	3	1	20	1	0	0	0	0	1	0	0	0	7497	1145	40	1	1620	1	HYOU1	11	118922241	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	53618086	118922241	16084275	58	5342											
GRAMD1B	57476	genome.wustl.edu	37	chr11	123480536	123480536	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatggaaaaaggaggagaAtggaaaccagagccgagtga	17	4	14	6	1	0	3	0	1	0	2	1	8	1	6	3	4	2	0	3	4	4	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:123480536A>T	ENST00000529750.1	+	12	1589	c.1262A>T	c.(1261-1263)aAt>aTt	p.N421I	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.N421I|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.N428I|GRAMD1B_ENST00000450171.2_Missense_Mutation_p.N112I	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	421						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		AAGGAGGAGAATGGAAACCAG	0.537																																																	0													61	63	62					11																	123480536		1934	4141	6075	SO:0001583	missense	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1262A>T	11.37:g.123480536A>T	ENSP00000436500:p.Asn421Ile		Q6UW85|Q9ULL9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.N421I	ENST00000529750.1	37	c.1262	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310203	0.40895	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764;ENST00000450171	T;T;T;T;T;T	0.47869	1.84;1.84;1.84;1.84;1.44;0.83	5.7	4.59	0.56863	.	0.260142	0.44483	D	0.000456	T	0.38453	0.1041	L	0.52573	1.65	0.19575	N	0.999961	B;B;B;B;B	0.32526	0.046;0.257;0.374;0.047;0.073	B;B;B;B;B	0.30495	0.027;0.087;0.116;0.014;0.025	T	0.36187	-0.9758	10	0.46703	T	0.11	.	7.7663	0.28982	0.7875:0.1406:0.072:0.0	.	381;428;112;421;428	B7Z4N9;F5H572;Q3KR37-3;Q3KR37;E7EPH8	.;.;.;GRM1B_HUMAN;.	I	428;428;421;421;381;417;112	ENSP00000402457:N428I;ENSP00000325628:N421I;ENSP00000436500:N421I;ENSP00000432987:N381I;ENSP00000434214:N417I;ENSP00000388458:N112I	ENSP00000325628:N421I	N	+	2	0	GRAMD1B	122985746	0.440000	0.25618	0.996000	0.52242	0.958000	0.62258	1.213000	0.32407	2.172000	0.68678	0.533000	0.62120	AAT	GRAMD1B	-	NULL	ENSG00000023171		0.537	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0	98	0	A	XM_370660		123480536	1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.282	T	T	123480536	A	T	123480536	3	4	20	1	0	0	0	0	1	0	0	0	6775	101	4	5	1308	5	GRAMD1B	11	123480536	Missense_Mutation	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	4558295	123480536	11525980	59	5343											
OR8G1	26494	genome.wustl.edu	37	chr11	124121122	124121122	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcgctccactgagggcAggtccaaagccttcagcact	10	8	9	14	1	1	1	1	1	0	0	4	1	3	1	3	2	2	3	3	2	1	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr11:124121122A>G	ENST00000534473.2	+	0	700				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CACTGAGGGCAGGTCCAAAGC	0.473																																																	0													122	117	118					11																	124121122		2103	4259	6362			0			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"GPCR / Class A : Olfactory receptors"	8484	protein-coding gene	gene with protein product			"olfactory receptor, family 8, subfamily G, member 1 pseudogene"	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124121122A>G			Q8NG88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R234G	ENST00000534473.2	37	c.700		11																																																																																			OR8G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197849		0.473	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	OR8G1	HGNC	polymorphic_pseudogene	OTTHUMT00000387282.2	-	0	140	0	A	NM_001002905		124121122	1	tier1	-	no_errors	ENST00000341493	ensembl	human	known	74_37	missense	7.61	85	7	SNP	0.003	G	G	124121122	A	G	124121122	1	3	20	0	1	0	0	0	0	0	0	0	11273	179	7	4		4	OR8G1	11	124121122	RNA	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	640586	124121122	10885394	60	5344											
GDF3	9573	genome.wustl.edu	37	chr12	7842645	7842645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcatgaaagcataattGgagctgttgagagagatggt	12	11	14	4	0	0	3	0	2	0	2	0	6	0	4	0	2	3	5	0	2	2	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:7842645G>A	ENST00000329913.3	-	2	971	c.924C>T	c.(922-924)tcC>tcT	p.S308S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	308					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGCATAATTGGAGCTGTTGA	0.532																																																	0													122	110	114					12																	7842645		2203	4300	6503	SO:0001819	synonymous_variant	0			AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"Endogenous ligands"	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.924C>T	12.37:g.7842645G>A			Q8NEJ4	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.S308	ENST00000329913.3	37	c.924	CCDS8581.1	12																																																																																			GDF3	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000184344		0.532	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	HGNC	protein_coding	OTTHUMT00000399717.1	-	0	75	0	G			7842645	-1	tier1	-	no_errors	ENST00000329913	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	A	A	7842645	G	A	7842645	2	1	20	1	0	0	0	0	0	0	0	1	6341	1335	47	3		3	GDF3	12	7842645	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		7842645	126009250	61	5345											
SOX5	6660	genome.wustl.edu	37	chr12	23999004	23999004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgcccttgcgccgttcagGagttcccagggctgtactag	6	10	12	13	2	1	0	1	0	0	0	2	1	2	1	3	2	3	4	3	2	2	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:23999004G>A	ENST00000451604.2	-	3	495	c.394C>T	c.(394-396)Cct>Tct	p.P132S	SOX5_ENST00000441133.2_Missense_Mutation_p.P97S|SOX5_ENST00000546136.1_Missense_Mutation_p.P119S|SOX5_ENST00000309359.1_Missense_Mutation_p.P119S|SOX5_ENST00000545921.1_Missense_Mutation_p.P122S|SOX5_ENST00000537393.1_Missense_Mutation_p.P97S|SOX5_ENST00000541847.1_Missense_Mutation_p.P122S|SOX5_ENST00000381381.2_Missense_Mutation_p.P119S|SOX5_ENST00000541536.1_Missense_Mutation_p.P119S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	132					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGCCGTTCAGGAGTTCCCAGG	0.517																																																	0													138	124	129					12																	23999004		2203	4300	6503	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.394C>T	12.37:g.23999004G>A	ENSP00000398273:p.Pro132Ser		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P132S	ENST00000451604.2	37	c.394	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.157344	0.94686	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.98835	-5.07;-5.07;-5.17;-5.08;-4.73;-5.17;-5.08	5.79	5.79	0.91817	.	0.053452	0.85682	D	0.000000	D	0.99140	0.9703	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.91635	0.998;0.999;0.986;0.999	D	0.99854	1.1075	10	0.87932	D	0	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	97;97;119;132	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	S	119;119;119;132;84;97;119;122;122;97;119	ENSP00000437487:P119S;ENSP00000308927:P119S;ENSP00000370788:P119S;ENSP00000398273:P132S;ENSP00000439832:P97S;ENSP00000441973:P119S;ENSP00000443520:P122S	ENSP00000308927:P119S	P	-	1	0	SOX5	23890271	1.000000	0.71417	0.886000	0.34754	0.992000	0.81027	9.458000	0.97634	2.744000	0.94065	0.650000	0.86243	CCT	SOX5	-	NULL	ENSG00000134532		0.517	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0	56	0	G	NM_006940		23999004	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A	A	23999004	G	A	23999004	3	1	20	1	0	0	0	0	1	0	0	0	14999	1174	41	3	1959	3	SOX5	12	23999004	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	16156359	23999004	109852891	62	5346											
PCBP2	5094	genome.wustl.edu	37	chr12	53848620	53848620	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaggtggattaaatgtCactctcaccatccggctact	11	12	8	10	1	2	1	2	1	1	0	4	2	3	2	2	3	1	1	2	3	4	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:53848620C>A	ENST00000439930.3	+	1	58	c.36C>A	c.(34-36)gtC>gtA	p.V12V	PCBP2_ENST00000552296.2_Silent_p.V12V|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000541275.1_Silent_p.V12V|PCBP2_ENST00000548933.1_Silent_p.V12V|PCBP2_ENST00000359462.5_Silent_p.V12V|PCBP2_ENST00000437231.1_Silent_p.V12V|PCBP2_ENST00000552819.1_Silent_p.V12V|PCBP2_ENST00000359282.5_Silent_p.V12V|PCBP2_ENST00000549863.1_Silent_p.V12V|PCBP2_ENST00000455667.3_Silent_p.V12V|PCBP2_ENST00000546463.1_Silent_p.V12V|PCBP2_ENST00000447282.1_Silent_p.V12V|PCBP2_ENST00000603815.1_Silent_p.V12V			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	12					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GATTAAATGTCACTCTCACCA	0.517																																																	0													153	125	135					12																	53848620		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"heterogenous nuclear ribonucleoprotein E2"	601210	"poly(rC)-binding protein 2"			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.36C>A	12.37:g.53848620C>A			A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.V12	ENST00000439930.3	37	c.36	CCDS44901.1	12																																																																																			PCBP2	-	smart_KH_dom	ENSG00000197111		0.517	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	HGNC	protein_coding	OTTHUMT00000407545.2	-	0	115	0	C	NM_005016		53848620	1	tier1	-	no_errors	ENST00000603815	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	A	A	53848620	C	A	53848620	2	1	20	1	0	0	0	0	0	0	0	1	11540	813	29	3		3	PCBP2	12	53848620	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	29849616	53848620	80003275	63	5347											
OR6C6	283365	genome.wustl.edu	37	chr12	55688667	55688667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcaacgtagcggtcatagGacatggcagccaggaggtaa	12	6	15	8	2	1	0	1	0	0	0	1	2	1	2	1	6	3	4	1	6	4	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:55688667G>A	ENST00000358433.2	-	1	349	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCGGTCATAGGACATGGCAGC	0.408																																																	0													61	59	60					12																	55688667		2203	4300	6503	SO:0001583	missense	0				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"GPCR / Class A : Olfactory receptors"	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.350C>T	12.37:g.55688667G>A	ENSP00000351211:p.Ser117Phe			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S117F	ENST00000358433.2	37	c.350	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	16.83	3.231286	0.58777	.	.	ENSG00000188324	ENST00000358433	T	0.01379	4.96	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000139	T	0.06508	0.0167	H	0.95712	3.71	0.46185	D	0.998918	B	0.31859	0.343	B	0.33620	0.167	T	0.02059	-1.1221	10	0.72032	D	0.01	.	16.7963	0.85603	0.0:0.0:1.0:0.0	.	117	A6NF89	OR6C6_HUMAN	F	117	ENSP00000351211:S117F	ENSP00000351211:S117F	S	-	2	0	OR6C6	53974934	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	5.957000	0.70323	2.359000	0.80004	0.580000	0.79431	TCC	OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188324		0.408	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	-	0	80	0	G			55688667	-1	tier1	-	no_errors	ENST00000358433	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	55688667	G	A	55688667	3	1	20	1	0	0	0	0	1	0	0	0	11233	1174	41	3	596	3	OR6C6	12	55688667	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	1840047	55688667	78163228	64	5348											
ACACB	32	genome.wustl.edu	37	chr12	109702980	109702980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccgcctcctcctggaGgaccaggtcaagcaggagat	8	6	13	14	2	1	1	1	0	0	1	3	4	3	3	5	4	2	1	5	4	1	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:109702980G>C	ENST00000338432.7	+	51	7127	c.7008G>C	c.(7006-7008)gaG>gaC	p.E2336D	ACACB_ENST00000377854.5_Missense_Mutation_p.E2266D|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.E2336D			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2336					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCCTCCTGGAGGACCAGGTCA	0.637																																																	0													77	70	72					12																	109702980		2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.7008G>C	12.37:g.109702980G>C	ENSP00000341044:p.Glu2336Asp		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E2336D	ENST00000338432.7	37	c.7008	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989211	0.74589	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.34275	1.37;1.37;1.37	4.3	4.3	0.51218	.	0.105018	0.64402	D	0.000006	T	0.41373	0.1156	M	0.64997	1.995	0.80722	D	1	P	0.36010	0.532	B	0.43508	0.422	T	0.43278	-0.9401	10	0.72032	D	0.01	.	9.3582	0.38179	0.1706:0.0:0.8294:0.0	.	2336	O00763	ACACB_HUMAN	D	2336;2336;2266;1567;30	ENSP00000341044:E2336D;ENSP00000367079:E2336D;ENSP00000367085:E2266D	ENSP00000341044:E2336D	E	+	3	2	ACACB	108187363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.423000	0.52756	2.122000	0.65172	0.555000	0.69702	GAG	ACACB	-	NULL	ENSG00000076555		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	82	0	G	NM_001093		109702980	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	C	C	109702980	G	C	109702980	3	2	20	1	0	0	0	0	1	0	0	0	107	991	35	5	7206	5	ACACB	12	109702980	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	54014313	109702980	24148915	65	5349											
DHX37	57647	genome.wustl.edu	37	chr12	125434711	125434711	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgcccttccagcaggAaccgggcaaagtgcttgtag	9	8	11	13	1	0	0	0	0	0	0	1	1	1	1	4	2	5	4	4	2	4	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr12:125434711A>T	ENST00000308736.2	-	24	3298	c.3200T>A	c.(3199-3201)tTc>tAc	p.F1067Y	DHX37_ENST00000544745.1_Missense_Mutation_p.F854Y	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1067							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTCCAGCAGGAACCGGGCAAA	0.647																																																	0													60	58	58					12																	125434711		2203	4300	6503	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3200T>A	12.37:g.125434711A>T	ENSP00000311135:p.Phe1067Tyr		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F1067Y	ENST00000308736.2	37	c.3200	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	A	19.25	3.792209	0.70452	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03330	4.02;3.97	5.58	5.58	0.84498	.	0.149022	0.64402	D	0.000007	T	0.18215	0.0437	M	0.82517	2.595	0.80722	D	1	D;D	0.71674	0.989;0.998	D;D	0.63381	0.914;0.91	T	0.00647	-1.1628	10	0.44086	T	0.13	-6.2626	15.7362	0.77846	1.0:0.0:0.0:0.0	.	854;1067	F5H3Y4;Q8IY37	.;DHX37_HUMAN	Y	1067;854	ENSP00000311135:F1067Y;ENSP00000439009:F854Y	ENSP00000311135:F1067Y	F	-	2	0	DHX37	124000664	1.000000	0.71417	0.207000	0.23584	0.138000	0.21146	7.337000	0.79256	2.122000	0.65172	0.454000	0.30748	TTC	DHX37	-	NULL	ENSG00000150990		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		-	0	150	0	A	NM_032656		125434711	-1	tier1	-	no_errors	ENST00000308736	ensembl	human	known	74_37	missense	7.41	75	6	SNP	1.000	T	T	125434711	A	T	125434711	3	4	20	1	0	0	0	0	1	0	0	0	4524	246	9	5	289	5	DHX37	12	125434711	Missense_Mutation	SNP	A	TCGA-IG-A3YC-01A-11D-A247-09	15731731	125434711	8417184	66	5350											
XPO4	64328	genome.wustl.edu	37	chr13	21374323	21374323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttccaccaaagtgacaaGgagctgcacagtgtcatttg	11	11	9	10	0	2	1	1	1	1	0	3	2	3	2	2	1	2	2	2	1	2	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr13:21374323G>T	ENST00000255305.6	-	15	2190	c.2119C>A	c.(2119-2121)Ctt>Att	p.L707I	XPO4_ENST00000400602.2_Missense_Mutation_p.L707I			Q9C0E2	XPO4_HUMAN	exportin 4	707					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAAGTGACAAGGAGCTGCACA	0.453																																																	0													101	98	99					13																	21374323		1996	4170	6166	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.2119C>A	13.37:g.21374323G>T	ENSP00000255305:p.Leu707Ile		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L707I	ENST00000255305.6	37	c.2119	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845220	0.91197	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.76060	-0.99;-0.99	5.8	4.95	0.65309	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83746	0.5321	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	D	0.83582	0.0118	10	0.48119	T	0.1	-14.7825	15.1635	0.72803	0.0684:0.0:0.9316:0.0	.	707	Q9C0E2	XPO4_HUMAN	I	707;577;707	ENSP00000383444:L707I;ENSP00000255305:L707I	ENSP00000255305:L707I	L	-	1	0	XPO4	20272323	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	6.069000	0.71209	2.744000	0.94065	0.655000	0.94253	CTT	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.453	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	-	0	86	0	G	NM_022459		21374323	-1	tier1	-	no_errors	ENST00000255305	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	21374323	G	T	21374323	3	4	20	1	0	0	0	0	1	0	0	0	17495	1000	35	3	1372	3	XPO4	13	21374323	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		21374323	93795555	67	5351											
FGF14	2259	genome.wustl.edu	37	chr13	102379101	102379101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtacaacatggatgagtaGattacataataattttcaaa	17	13	6	5	0	1	2	1	1	0	1	1	3	1	3	0	1	3	2	0	1	7	7	rs558694053	byFrequency	TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr13:102379101G>C	ENST00000376143.4	-	4	467	c.468C>G	c.(466-468)atC>atG	p.I156M	FGF14_ENST00000376131.4_Missense_Mutation_p.I161M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	156					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGATGAGTAGATTACATAAT	0.353																																																	0													82	79	80					13																	102379101		2203	4300	6503	SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.468C>G	13.37:g.102379101G>C	ENSP00000365313:p.Ile156Met		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.I161M	ENST00000376143.4	37	c.483	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189700	0.57909	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	D;D	0.81659	-1.52;-1.52	5.86	5.86	0.93980	.	0.147975	0.64402	D	0.000010	D	0.82889	0.5135	L	0.60455	1.87	0.80722	D	1	P;B	0.36412	0.552;0.211	P;B	0.45167	0.472;0.416	D	0.83433	0.0039	10	0.66056	D	0.02	.	15.3424	0.74309	0.0687:0.0:0.9313:0.0	.	161;156	Q92915-2;Q92915	.;FGF14_HUMAN	M	161;156	ENSP00000365301:I161M;ENSP00000365313:I156M	ENSP00000365301:I161M	I	-	3	3	FGF14	101177102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.422000	0.73357	2.786000	0.95864	0.591000	0.81541	ATC	FGF14	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000102466		0.353	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0	78	0	G			102379101	-1	tier1	-	no_errors	ENST00000376131	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	C	C	102379101	G	C	102379101	3	2	20	1	0	0	0	0	1	0	0	0	5865	932	33	5	283	5	FGF14	13	102379101	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	81004778	102379101	12790777	68	5352											
HEATR5A	25938	genome.wustl.edu	37	chr14	31774121	31774121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcataccttcaggagaGcacactgcaggaagttcgga	13	6	11	11	1	1	1	1	0	0	1	2	4	1	3	1	3	4	4	1	3	2	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr14:31774121G>C	ENST00000389961.3	-	31	5210	c.5211C>G	c.(5209-5211)tgC>tgG	p.C1737W	HEATR5A_ENST00000439348.1_Missense_Mutation_p.C1737W|HEATR5A_ENST00000439727.1_Missense_Mutation_p.C1450W|HEATR5A_ENST00000543095.2_Missense_Mutation_p.C1743W|RP11-596D21.1_ENST00000551799.1_RNA			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1737										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTTCAGGAGAGCACACTGCAG	0.403																																																	0													108	102	104					14																	31774121		1978	4180	6158	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5211C>G	14.37:g.31774121G>C	ENSP00000374611:p.Cys1737Trp		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C1737W	ENST00000389961.3	37	c.5211		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.44|17.44	3.391173|3.391173	0.62066|0.62066	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095	.|T;T;T;T	.|0.68624	.|-0.16;-0.34;-0.16;-0.16	6.08|6.08	4.25|4.25	0.50352|0.50352	.|.	.|0.090061	.|0.85682	.|D	.|0.000000	T|T	0.80529|0.80529	0.4640|0.4640	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.71414	.|0.973	D|D	0.83443|0.83443	0.0044|0.0044	5|10	.|0.87932	.|D	.|0	.|.	13.275|13.275	0.60182|0.60182	0.1298:0.0:0.8702:0.0|0.1298:0.0:0.8702:0.0	.|.	.|1737	.|Q86XA9-2	.|.	G|W	1371|1737;1737;1450;1743	.|ENSP00000374611:C1737W;ENSP00000405407:C1737W;ENSP00000408681:C1450W;ENSP00000437968:C1743W	.|ENSP00000374611:C1737W	A|C	-|-	2|3	0|2	HEATR5A|HEATR5A	30843872|30843872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.555000|2.555000	0.45854|0.45854	1.594000|1.594000	0.50039|0.50039	0.655000|0.655000	0.94253|0.94253	GCT|TGC	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		-	0	43	0	G	NM_015473		31774121	-1	tier1	-	no_errors	ENST00000389961	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	C	C	31774121	G	C	31774121	3	2	20	1	0	0	0	0	1	0	0	0	7058	963	34	5	931	5	HEATR5A	14	31774121	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		31774121	75575419	69	5353											
MPP5	64398	genome.wustl.edu	37	chr14	67799567	67799567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggccactactttgataCggcaattgtgaattccgatc	11	12	8	10	2	0	2	0	2	0	0	2	3	1	2	2	2	2	1	2	2	5	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr14:67799567C>T	ENST00000261681.4	+	15	2583	c.1922C>T	c.(1921-1923)aCg>aTg	p.T641M	MPP5_ENST00000555925.1_Missense_Mutation_p.T607M|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	641	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.T641M(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TACTTTGATACGGCAATTGTG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											96	86	90					14																	67799567		2203	4300	6503	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1922C>T	14.37:g.67799567C>T	ENSP00000261681:p.Thr641Met		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.T641M	ENST00000261681.4	37	c.1922	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777306	0.49786	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.17370	2.28;2.28	5.55	5.55	0.83447	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.101886	0.64402	D	0.000002	T	0.10380	0.0254	N	0.04787	-0.16	0.80722	D	1	B	0.22851	0.076	B	0.20767	0.031	T	0.27806	-1.0063	10	0.18276	T	0.48	.	19.5081	0.95127	0.0:1.0:0.0:0.0	.	641	Q8N3R9	MPP5_HUMAN	M	641;607	ENSP00000261681:T641M;ENSP00000451488:T607M	ENSP00000261681:T641M	T	+	2	0	MPP5	66869320	1.000000	0.71417	0.986000	0.45419	0.908000	0.53690	5.919000	0.70005	2.616000	0.88540	0.591000	0.81541	ACG	MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.403	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	-	0	67	0	C	NM_022474		67799567	1	tier1	-	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T	T	67799567	C	T	67799567	3	4	20	1	0	0	0	0	1	0	0	0	9775	536	19	1	1972	1	MPP5	14	67799567	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	36025446	67799567	39549973	70	5354											
FMN1	342184	genome.wustl.edu	37	chr15	33066543	33066543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacactggcttccttctgacGcagtctttctttctgttaag	6	16	7	12	1	4	1	0	1	4	0	5	1	5	1	1	1	0	3	1	1	1	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:33066543G>A	ENST00000559047.1	-	18	4227	c.4228C>T	c.(4228-4230)Cgt>Tgt	p.R1410C	FMN1_ENST00000334528.9_Missense_Mutation_p.R1187C|FMN1_ENST00000561249.1_Missense_Mutation_p.R1312C			Q68DA7	FMN1_HUMAN	formin 1	1410					actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTTCTGACGCAGTCTTTCT	0.388																																																	0													117	111	113					15																	33066543		1955	4150	6105	SO:0001583	missense	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.4228C>T	15.37:g.33066543G>A	ENSP00000454047:p.Arg1410Cys		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.R1187C	ENST00000559047.1	37	c.3559		15	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434650	0.62955	.	.	ENSG00000248905	ENST00000334528	T	0.47869	0.83	5.23	5.23	0.72850	.	0.056282	0.64402	D	0.000001	T	0.33990	0.0882	N	0.24115	0.695	.	.	.	P	0.49358	0.923	B	0.38020	0.263	T	0.52668	-0.8545	9	0.56958	D	0.05	.	15.8328	0.78769	0.0:0.0:1.0:0.0	.	1187	Q68DA7-5	.	C	1187	ENSP00000333950:R1187C	ENSP00000333950:R1187C	R	-	1	0	FMN1	30853835	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.670000	0.61583	2.710000	0.92621	0.650000	0.86243	CGT	FMN1	-	prints_Formin_Cappuccino_subfam	ENSG00000248905		0.388	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	-	0	96	0	G	NM_001103184		33066543	-1	tier1	-	no_errors	ENST00000334528	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	A	A	33066543	G	A	33066543	3	1	20	1	0	0	0	0	1	0	0	0	5971	1087	38	1	35	1	FMN1	15	33066543	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		33066543	69464849	71	5355											
SPG11	80208	genome.wustl.edu	37	chr15	44914420	44914420	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggactaatgagactacctGggaaatgactggatttgcat	13	10	12	6	0	0	2	0	2	0	1	0	7	0	5	1	3	2	1	1	3	3	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:44914420G>T	ENST00000261866.7	-	13	2458	c.2442C>A	c.(2440-2442)ccC>ccA	p.P814P	SPG11_ENST00000427534.2_Silent_p.P814P|SPG11_ENST00000535302.2_Silent_p.P814P|SPG11_ENST00000558319.1_Silent_p.P814P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	814					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAGACTACCTGGGAAATGACT	0.323																																																	0													87	89	88					15																	44914420		2198	4297	6495	SO:0001819	synonymous_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2442C>A	15.37:g.44914420G>T			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	NULL	p.P814	ENST00000261866.7	37	c.2442	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.323	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	-	0	90	0	G			44914420	-1	tier1	-	no_errors	ENST00000261866	ensembl	human	known	74_37	silent	9.09	30	3	SNP	1.000	T	T	44914420	G	T	44914420	2	4	20	1	0	0	0	0	0	0	0	1	15088	1335	47	3		3	SPG11	15	44914420	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	11847877	44914420	57616972	72	5356											
CEP152	22995	genome.wustl.edu	37	chr15	49083507	49083507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcttcaagctgtatctctCtttcttttccattctgaaag	8	17	6	10	0	5	1	1	1	4	0	7	2	6	1	1	0	2	3	1	0	3	6			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:49083507C>G	ENST00000380950.2	-	8	1086	c.899G>C	c.(898-900)aGa>aCa	p.R300T	CEP152_ENST00000325747.5_Missense_Mutation_p.R207T|CEP152_ENST00000399334.3_Missense_Mutation_p.R300T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	300					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGTATCTCTCTTTCTTTTCC	0.328																																																	0													132	118	123					15																	49083507		1821	4081	5902	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.899G>C	15.37:g.49083507C>G	ENSP00000370337:p.Arg300Thr		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.R300T	ENST00000380950.2	37	c.899	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728114	0.69074	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	T;T;T	0.79940	-1.32;-1.32;-1.32	5.56	4.45	0.53987	.	0.090108	0.85682	D	0.000000	D	0.86020	0.5833	M	0.72894	2.215	0.34058	D	0.656944	P;D;D	0.76494	0.952;0.999;0.999	P;P;D	0.63283	0.544;0.866;0.913	D	0.89389	0.3687	10	0.56958	D	0.05	-21.5976	10.1494	0.42784	0.1384:0.7823:0.0:0.0793	.	207;300;300	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	T	300;207;300;300	ENSP00000370337:R300T;ENSP00000321000:R207T;ENSP00000382271:R300T	ENSP00000321000:R207T	R	-	2	0	CEP152	46870799	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.646000	0.46630	2.613000	0.88420	0.655000	0.94253	AGA	CEP152	-	NULL	ENSG00000103995		0.328	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	-	0	95	0	C	NM_014985		49083507	-1	tier1	-	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G	G	49083507	C	G	49083507	3	3	20	1	0	0	0	0	1	0	0	0	3255	913	32	5	4141	5	CEP152	15	49083507	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	4169087	49083507	53447885	73	5357											
GABPB1	2553	genome.wustl.edu	37	chr15	50596184	50596184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaagtaaaacctctactatGctggcatggccctcagaagc	12	10	8	11	0	2	1	1	0	1	1	2	1	2	1	2	2	4	3	2	2	6	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:50596184G>T	ENST00000220429.8	-	3	423	c.255C>A	c.(253-255)agC>agA	p.S85R	GABPB1_ENST00000396464.3_Missense_Mutation_p.S85R|GABPB1_ENST00000543881.1_Missense_Mutation_p.S9R|GABPB1_ENST00000380877.3_Missense_Mutation_p.S85R|GABPB1_ENST00000359031.4_Missense_Mutation_p.S85R|GABPB1_ENST00000429662.2_Missense_Mutation_p.S85R|GABPB1_ENST00000560825.1_Missense_Mutation_p.S85R			Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	85					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CCTCTACTATGCTGGCATGGC	0.433																																																	0													181	146	157					15																	50596184		2196	4295	6491	SO:0001583	missense	0			D13316	CCDS10135.1, CCDS10136.1, CCDS32239.1, CCDS45258.1	15q21.2	2013-01-10	2008-02-25	2008-02-25	ENSG00000104064	ENSG00000104064		"Ankyrin repeat domain containing"	4074	protein-coding gene	gene with protein product		600610	"GA binding protein transcription factor, beta subunit 2"	GABPB2		7958862	Standard	NM_016655		Approved	E4TF1-47, GABPB	uc001zyb.3	Q06547	OTTHUMG00000131642	ENST00000220429.8:c.255C>A	15.37:g.50596184G>T	ENSP00000220429:p.Ser85Arg		A8IE52|Q06545|Q12940|Q12941|Q12942|Q8IYD0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S85R	ENST00000220429.8	37	c.255	CCDS32239.1	15	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738660	0.30774	.	.	ENSG00000104064	ENST00000220429;ENST00000380877;ENST00000543881;ENST00000396464;ENST00000429662;ENST00000359031	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.45	2.47	0.30058	Ankyrin repeat-containing domain (3);	0.194805	0.53938	N	0.000045	T	0.46678	0.1405	L	0.35414	1.06	0.39045	D	0.960204	B;B;B;B;B	0.20887	0.0;0.0;0.0;0.049;0.001	B;B;B;B;B	0.22753	0.001;0.001;0.0;0.041;0.001	T	0.30387	-0.9980	10	0.32370	T	0.25	-0.134	7.9843	0.30202	0.0654:0.1171:0.6959:0.1215	.	85;85;85;85;85	B7Z726;Q06547-3;Q06547-4;Q06547;Q06547-2	.;.;.;GABP1_HUMAN;.	R	85;85;9;85;85;85	ENSP00000220429:S85R;ENSP00000370259:S85R;ENSP00000442500:S9R;ENSP00000379728:S85R;ENSP00000395771:S85R;ENSP00000351923:S85R	ENSP00000220429:S85R	S	-	3	2	GABPB1	48383476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.398000	0.52579	0.328000	0.23435	0.563000	0.77884	AGC	GABPB1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104064		0.433	GABPB1-005	KNOWN	basic|CCDS	protein_coding	GABPB1	HGNC	protein_coding	OTTHUMT00000418294.1		0	80	0	G			50596184	-1			no_errors	ENST00000220429	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	50596184	G	T	50596184	3	4	20	1	0	0	0	0	1	0	0	0	6182	1310	46	3	1008	3	GABPB1	15	50596184	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	1512677	50596184	51935208	74	5358											
MYO9A	4649	genome.wustl.edu	37	chr15	72190310	72190310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgaatctgttccatcaTctctttttcattctgttgct	5	19	6	11	1	5	0	2	0	3	0	7	1	6	0	1	1	1	3	1	1	1	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr15:72190310T>C	ENST00000356056.5	-	25	5006	c.4534A>G	c.(4534-4536)Atg>Gtg	p.M1512V	MYO9A_ENST00000424560.1_Missense_Mutation_p.M1512V|MYO9A_ENST00000564571.1_Missense_Mutation_p.M1512V|MYO9A_ENST00000566885.1_Missense_Mutation_p.M1132V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.M1493V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1512	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTTCCATCATCTCTTTTTCA	0.403																																																	0													90	89	90					15																	72190310		2199	4297	6496	SO:0001583	missense	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4534A>G	15.37:g.72190310T>C	ENSP00000348349:p.Met1512Val		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.M1512V	ENST00000356056.5	37	c.4534	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415659	0.62511	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.87412	-2.05;-2.25;-2.05	5.88	4.76	0.60689	.	.	.	.	.	T	0.79879	0.4522	L	0.29908	0.895	0.48395	D	0.999647	P;P;B	0.43287	0.802;0.717;0.278	B;B;B	0.41271	0.337;0.352;0.084	T	0.75036	-0.3459	9	0.15066	T	0.55	.	13.1875	0.59691	0.0:0.0:0.1411:0.8589	.	1493;1512;1512	B2RTY4-2;B2RTY4-4;B2RTY4	.;.;MYO9A_HUMAN	V	1512;1512;1493	ENSP00000348349:M1512V;ENSP00000399162:M1512V;ENSP00000398250:M1493V	ENSP00000348349:M1512V	M	-	1	0	MYO9A	69977364	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.851000	0.69481	1.054000	0.40438	0.524000	0.50904	ATG	MYO9A	-	NULL	ENSG00000066933		0.403	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	-	0	169	0	T	NM_006901		72190310	-1	tier1	-	no_errors	ENST00000424560	ensembl	human	known	74_37	missense	7.29	89	7	SNP	1.000	C	C	72190310	T	C	72190310	3	2	20	1	0	0	0	0	1	0	0	0	10122	1435	50	4	3184	4	MYO9A	15	72190310	Missense_Mutation	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09	21594126	72190310	30341082	75	5359											
RPUSD1	113000	genome.wustl.edu	37	chr16	836115	836115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctcggggtcagggtcGggggtggcccgtaaggcctg	4	8	18	11	3	1	0	1	0	0	0	4	0	2	0	3	7	0	1	3	7	2	2	rs144842334		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr16:836115G>A	ENST00000561734.1	-	5	1017	c.774C>T	c.(772-774)ccC>ccT	p.P258P	CHTF18_ENST00000455171.2_5'Flank|RPUSD1_ENST00000567114.1_Silent_p.P129P|CHTF18_ENST00000317063.6_5'Flank|MSLNL_ENST00000442466.1_5'Flank|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000007264.2_Silent_p.P258P|CHTF18_ENST00000262315.9_5'Flank			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	258	Pro-rich.				pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGTCAGGGTCGGGGGTGGCCC	0.726																																																	0								G		1,4379		0,1,2189	20	26	24		774	-8.4	0.2	16	dbSNP_134	24	0,8574		0,0,4287	no	coding-synonymous	RPUSD1	NM_058192.2		0,1,6476	AA,AG,GG		0.0,0.0228,0.0077		258/313	836115	1,12953	2190	4287	6477	SO:0001819	synonymous_variant	0			AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"RNA pseudouridylate synthase domain containing"	14173	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 40"	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.774C>T	16.37:g.836115G>A			D3DU66	Silent	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.P258	ENST00000561734.1	37	c.774	CCDS10426.1	16																																																																																			RPUSD1	-	NULL	ENSG00000007376		0.726	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD1	HGNC	protein_coding	OTTHUMT00000420620.1	-	0	36	0	G	NM_058192		836115	-1	tier1	rs144842334	no_errors	ENST00000007264	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.004	A	A	836115	G	A	836115	2	1	20	1	0	0	0	0	0	0	0	1	13711	1103	39	1		1	RPUSD1	16	836115	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		836115	89518638	76	5360											
TAOK2	9344	genome.wustl.edu	37	chr16	29996571	29996571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcatgagcaggactctgCgctgcgggagcagctgagcg	8	5	18	10	3	1	2	0	2	1	0	1	5	1	5	0	3	7	5	0	3	0	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr16:29996571C>T	ENST00000308893.4	+	14	2503	c.1460C>T	c.(1459-1461)gCg>gTg	p.A487V	TAOK2_ENST00000416441.2_Missense_Mutation_p.A314V|TAOK2_ENST00000543033.1_Missense_Mutation_p.A487V|TAOK2_ENST00000279394.3_Missense_Mutation_p.A487V	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	487					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAGGACTCTGCGCTGCGGGAG	0.627																																																	0													70	76	74					16																	29996571		2197	4300	6497	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1460C>T	16.37:g.29996571C>T	ENSP00000310094:p.Ala487Val		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A487V	ENST00000308893.4	37	c.1460	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277325	0.80580	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.61388	0.2343	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.969;0.975;0.999	P;D;P;P;P	0.71414	0.833;0.973;0.721;0.542;0.883	T	0.58126	-0.7691	9	.	.	.	.	18.2234	0.89909	0.0:1.0:0.0:0.0	.	678;314;487;487;487	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	V	487	ENSP00000310094:A487V;ENSP00000440336:A487V;ENSP00000279394:A487V	.	A	+	2	0	TAOK2	29904072	0.977000	0.34250	0.972000	0.41901	0.541000	0.35023	2.506000	0.45433	2.603000	0.88011	0.563000	0.77884	GCG	TAOK2	-	NULL	ENSG00000149930		0.627	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2		0	89	0	C	NM_016151		29996571	1			no_errors	ENST00000308893	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.996	T	T	29996571	C	T	29996571	3	4	20	1	0	0	0	0	1	0	0	0	15595	768	27	1	1510	1	TAOK2	16	29996571	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	29160456	29996571	60358182	77	5361											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76461364	76461364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagggtttttcaggaaatGcaaatgcagacagtgttgtg	11	14	12	4	0	1	1	1	0	0	1	1	2	1	2	0	2	2	4	0	2	3	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr16:76461364G>T	ENST00000476707.1	+	3	554	c.415G>T	c.(415-417)Gca>Tca	p.A139S	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A111S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A135S|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.A135S			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	136	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTCAGGAAATGCAAATGCAGA	0.418																																																	0													191	192	192					16																	76461364		2198	4300	6498	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.415G>T	16.37:g.76461364G>T	ENSP00000417628:p.Ala139Ser		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.A135S	ENST00000476707.1	37	c.403		16	.	.	.	.	.	.	.	.	.	.	G	7.067	0.567529	0.13560	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	4.98	1.9	0.25705	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.410430	0.17885	N	0.158726	D	0.91566	0.7336	.	.	.	0.28083	N	0.932101	B;B;B;B	0.15719	0.001;0.014;0.0;0.007	B;B;B;B	0.22152	0.007;0.016;0.003;0.038	T	0.82424	-0.0464	9	0.28530	T	0.3	.	2.3124	0.04190	0.3468:0.0:0.4277:0.2256	.	111;139;111;136	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	S	135;135;111;139	ENSP00000306893:A135S;ENSP00000439733:A135S;ENSP00000418741:A111S;ENSP00000417628:A139S	ENSP00000306893:A135S	A	+	1	0	CNTNAP4	75018865	0.971000	0.33674	0.999000	0.59377	0.991000	0.79684	1.546000	0.36179	0.771000	0.33359	0.655000	0.94253	GCA	CNTNAP4	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000152910		0.418	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	-	0	92	0	G	NM_033401		76461364	1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	76461364	G	T	76461364	3	4	20	1	0	0	0	0	1	0	0	0	3656	1319	46	3	433	3	CNTNAP4	16	76461364	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	46464793	76461364	13893389	78	5362											
NLRP1	22861	genome.wustl.edu	37	chr17	5434003	5434003	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgggccagcggtaggaGccagctacagggaagtgaac	10	6	17	8	1	0	1	0	1	0	0	0	3	0	3	2	4	5	3	2	4	4	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:5434003G>T	ENST00000572272.1	-	12	3317	c.3318C>A	c.(3316-3318)ggC>ggA	p.G1106G	NLRP1_ENST00000577119.1_Silent_p.G1076G|NLRP1_ENST00000354411.3_Silent_p.G1076G|NLRP1_ENST00000269280.4_Silent_p.G1106G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.G1110G|NLRP1_ENST00000345221.3_Silent_p.G1106G			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1106					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCGGTAGGAGCCAGCTACAG	0.562																																																	0													63	60	61					17																	5434003		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3318C>A	17.37:g.5434003G>T			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.G1106	ENST00000572272.1	37	c.3318	CCDS42246.1	17																																																																																			NLRP1	-	NULL	ENSG00000091592		0.562	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1		0	43	0	G	NM_033004		5434003	-1			no_errors	ENST00000572272	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.810	T	T	5434003	G	T	5434003	2	4	20	1	0	0	0	0	0	0	0	1	10510	958	34	3		3	NLRP1	17	5434003	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		5434003	75761207	79	5363											
TP53	7157	genome.wustl.edu	37	chr17	7578493	7578493	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggtgtggaatcaaccCacagctgcacagggcaggtc	9	5	16	11	1	1	0	1	0	0	0	2	1	1	1	1	5	3	3	1	5	2	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:7578493C>T	ENST00000269305.4	-	5	626	c.437G>A	c.(436-438)tGg>tAg	p.W146*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W146*(33)|p.0?(8)|p.W146S(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.W14S(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W53S(1)|p.V143_S149del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAATCAACCCACAGCTGCAC	0.602		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	55	Substitution - Nonsense(33)|Whole gene deletion(8)|Substitution - Missense(6)|Deletion - Frameshift(4)|Deletion - In frame(3)|Complex - frameshift(1)	large_intestine(10)|urinary_tract(7)|breast(7)|haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|oesophagus(3)|soft_tissue(2)|liver(2)|ovary(2)|stomach(1)|peritoneum(1)|lung(1)|skin(1)|prostate(1)											57	57	57					17																	7578493		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.437G>A	17.37:g.7578493C>T	ENSP00000269305:p.Trp146*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.W146*	ENST00000269305.4	37	c.437	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037100	0.35893	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	.	.	.	5.48	1.18	0.20946	.	0.722123	0.13656	N	0.371928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-1.8394	6.1405	0.20257	0.2634:0.5908:0.0:0.1458	.	.	.	.	X	146;146;146;146;146;146;135;53;14;53;14;146	.	ENSP00000269305:W146X	W	-	2	0	TP53	7519218	0.210000	0.23517	0.127000	0.21898	0.057000	0.15508	0.674000	0.25218	0.083000	0.17047	0.655000	0.94253	TGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	57	0	C	NM_000546		7578493	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	37.93	18	11	SNP	0.248	T	T	7578493	C	T	7578493	4	4	20	1	0	0	0	0	0	1	0	0	16429	595	21	3	861	3	TP53	17	7578493	Nonsense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	2144490	7578493	73616717	80	5364											
GUCY2D	3000	genome.wustl.edu	37	chr17	7919550	7919550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgaggacactttctggCtagtgggcagacgcggcttc	6	8	15	12	4	1	1	0	0	1	1	2	3	1	2	1	4	0	3	1	4	1	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:7919550C>A	ENST00000254854.4	+	18	3316	c.3166C>A	c.(3166-3168)Cta>Ata	p.L1056I		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	1056					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CACTTTCTGGCTAGTGGGCAG	0.682																																																	0													33	31	32					17																	7919550		2202	4297	6499	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.3166C>A	17.37:g.7919550C>A	ENSP00000254854:p.Leu1056Ile		Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1056I	ENST00000254854.4	37	c.3166	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372792	0.82573	.	.	ENSG00000132518	ENST00000254854	D	0.83250	-1.7	5.17	4.2	0.49525	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.37857	N	0.001904	D	0.89298	0.6675	M	0.69185	2.1	0.35496	D	0.799354	D	0.89917	1.0	D	0.97110	1.0	D	0.92595	0.6086	10	0.72032	D	0.01	.	12.9363	0.58316	0.0:0.9191:0.0:0.0809	.	1056	Q02846	GUC2D_HUMAN	I	1056	ENSP00000254854:L1056I	ENSP00000254854:L1056I	L	+	1	2	GUCY2D	7860275	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.260000	0.58835	1.173000	0.42796	0.462000	0.41574	CTA	GUCY2D	-	pfam_A/G_cyclase,superfamily_A/G_cyclase	ENSG00000132518		0.682	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	-	0	96	0	C			7919550	1	tier1	-	no_errors	ENST00000254854	ensembl	human	known	74_37	missense	21.31	48	13	SNP	1.000	A	A	7919550	C	A	7919550	3	1	20	1	0	0	0	0	1	0	0	0	6924	796	28	3	3232	3	GUCY2D	17	7919550	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	341057	7919550	73275660	81	5365											
SREBF1	6720	genome.wustl.edu	37	chr17	17718043	17718043	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcagagaggcccaccacTtggccaccgggtctacgcct	7	7	11	16	2	2	1	1	0	1	1	2	2	2	1	5	3	1	0	5	3	1	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:17718043T>A	ENST00000261646.5	-	15	2805	c.2621A>T	c.(2620-2622)aAg>aTg	p.K874M	SREBF1_ENST00000338854.5_Missense_Mutation_p.K874M|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.K904M|SREBF1_ENST00000395757.1_Missense_Mutation_p.K620M	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	874					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCCCACCACTTGGCCACCGG	0.697																																																	0																																										SO:0001583	missense	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2621A>T	17.37:g.17718043T>A	ENSP00000261646:p.Lys874Met		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.K904M	ENST00000261646.5	37	c.2711	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	7.822|7.822	0.718050|0.718050	0.15372|0.15372	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161|ENST00000395751	T;T;T;T|.	0.15256|.	2.44;2.44;2.44;2.44|.	5.64|5.64	3.34|3.34	0.38264|0.38264	.|.	0.056266|.	0.64402|.	D|.	0.000002|.	T|T	0.69441|0.69441	0.3111|0.3111	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.994;0.997;0.993|.	T|T	0.65907|0.65907	-0.6054|-0.6054	10|5	0.66056|.	D|.	0.02|.	-20.9659|-20.9659	9.175|9.175	0.37107|0.37107	0.0:0.1585:0.0:0.8415|0.0:0.1585:0.0:0.8415	.|.	874;904;493|.	P36956;P36956-4;A8MTU8|.	SRBP1_HUMAN;.;.|.	M|H	874;904;874;620;493;711;800|881	ENSP00000345822:K874M;ENSP00000348069:K904M;ENSP00000261646:K874M;ENSP00000379106:K620M|.	ENSP00000261646:K874M|.	K|Q	-|-	2|3	0|2	SREBF1|SREBF1	17658768|17658768	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.105000|0.105000	0.19272|0.19272	2.082000|2.082000	0.41605|0.41605	0.386000|0.386000	0.24997|0.24997	-0.373000|-0.373000	0.07131|0.07131	AAG|CAA	SREBF1	-	NULL	ENSG00000072310		0.697	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1		0	50	0	T	NM_004176		17718043	-1			no_errors	ENST00000355815	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	17718043	T	A	17718043	3	1	20	1	0	0	0	0	1	0	0	0	15188	1609	56	5	842	5	SREBF1	17	17718043	Missense_Mutation	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09	9798493	17718043	63477167	82	5366											
PGAP3	93210	genome.wustl.edu	37	chr17	37842243	37842243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacggtgacccacatacactCatacttacagtcgtcccgac	12	8	6	15	3	1	1	1	1	0	0	3	2	2	1	2	1	4	0	2	1	4	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:37842243C>T	ENST00000300658.4	-	2	303	c.211G>A	c.(211-213)Gag>Aag	p.E71K	ERBB2_ENST00000406381.2_5'Flank|PGAP3_ENST00000429199.2_Missense_Mutation_p.E71K|PGAP3_ENST00000378011.4_Missense_Mutation_p.E71K|ERBB2_ENST00000578199.1_5'Flank|PGAP3_ENST00000579146.1_Missense_Mutation_p.E71K|ERBB2_ENST00000584601.1_5'Flank	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	71					GPI anchor biosynthetic process (GO:0006506)|GPI anchor metabolic process (GO:0006505)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CACATACACTCATACTTACAG	0.537																																																	0													137	92	107					17																	37842243		2203	4300	6503	SO:0001583	missense	0			AB088396	CCDS32641.1	17q21.2	2009-06-02	2009-06-02	2009-06-02		ENSG00000161395			23719	protein-coding gene	gene with protein product	"post-GPI attachment to proteins 3"	611801	"per1-like domain containing 1"	PERLD1		15010812, 17021251, 17314402	Standard	NM_001291728		Approved	MGC9753, CAB2, PP1498, PER1	uc002hsj.3	Q96FM1		ENST00000300658.4:c.211G>A	17.37:g.37842243C>T	ENSP00000300658:p.Glu71Lys		B4DGK7|Q86Z03|Q8NBJ8	Missense_Mutation	SNP	pfam_Per1	p.E71K	ENST00000300658.4	37	c.211	CCDS32641.1	17	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192283	0.58017	.	.	ENSG00000161395	ENST00000300658;ENST00000378011;ENST00000309862;ENST00000429199	.	.	.	5.22	4.25	0.50352	.	0.129222	0.51477	D	0.000081	T	0.45357	0.1338	L	0.46614	1.455	0.42344	D	0.992342	B;B;B;B	0.19583	0.009;0.001;0.037;0.02	B;B;B;B	0.19148	0.013;0.024;0.017;0.011	T	0.30060	-0.9991	9	0.15952	T	0.53	-13.2733	8.3869	0.32505	0.0:0.7598:0.156:0.0842	.	71;15;71;71	B4DGK7;B4DVJ3;Q96FM1-2;Q96FM1	.;.;.;PGAP3_HUMAN	K	71;71;15;71	.	ENSP00000300658:E71K	E	-	1	0	PGAP3	35095769	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.477000	0.45180	1.205000	0.43262	0.561000	0.74099	GAG	PGAP3	-	pfam_Per1	ENSG00000161395		0.537	PGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP3	HGNC	protein_coding	OTTHUMT00000444825.2	-	0	57	0	C	NM_033419		37842243	-1	tier1	-	no_errors	ENST00000300658	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T	T	37842243	C	T	37842243	3	4	20	1	0	0	0	0	1	0	0	0	11818	835	29	3	779	3	PGAP3	17	37842243	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	20124200	37842243	43352967	83	5367											
KRTAP4-3	85290	genome.wustl.edu	37	chr17	39324398	39324398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacagctctggtcagagcaGacagagccacagcaggagct	12	4	12	13	0	2	3	1	0	1	3	2	4	2	4	2	2	5	4	2	2	0	0	rs369294684		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:39324398G>A	ENST00000391356.2	-	1	26	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	9					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGTCAGAGCAGACAGAGCCAC	0.627																																																	0													29	32	31					17																	39324398		2192	4290	6482	SO:0001819	synonymous_variant	0			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.27C>T	17.37:g.39324398G>A				Silent	SNP	pfam_Keratin-assoc	p.V9	ENST00000391356.2	37	c.27	CCDS42331.1	17																																																																																			KRTAP4-3	-	pfam_Keratin-assoc	ENSG00000196156		0.627	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-3	HGNC	protein_coding	OTTHUMT00000257784.1	-	0	186	0	G			39324398	-1	tier1	-	no_errors	ENST00000391356	ensembl	human	known	74_37	silent	20.59	80	21	SNP	0.656	A	A	39324398	G	A	39324398	2	1	20	1	0	0	0	0	0	0	0	1	8580	929	33	3		3	KRTAP4-3	17	39324398	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	1482155	39324398	41870812	84	5368											
VAT1	3430	genome.wustl.edu	37	chr17	41168411	41168411	+	IGR	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaccacaccactgacCagctccacctcaccatccag	10	4	6	21	1	1	1	1	1	0	0	3	1	3	1	8	1	1	1	8	1	0	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:41168411C>G	ENST00000415816.2	+	0	1241				VAT1_ENST00000355653.3_Silent_p.L337L|VAT1_ENST00000587173.1_Silent_p.L269L|VAT1_ENST00000420567.3_Silent_p.L203L	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35						cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CACCACTGACCAGCTCCACCT	0.602																																																	0													67	60	62					17																	41168411		2203	4300	6503	SO:0001628	intergenic_variant	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720		17.37:g.41168411C>G			C9JGX1|Q92984|Q99537|Q9BV98	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.L337	ENST00000415816.2	37	c.1011		17																																																																																			VAT1	-	smart_PKS_ER	ENSG00000108828		0.602	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	VAT1	HGNC	protein_coding	OTTHUMT00000395851.1	-	0	44	0	C	NM_005533		41168411	-1	tier1	-	no_errors	ENST00000355653	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.997	G	G	41168411	C	G	41168411	1	3	20	0	1	0	0	0	0	0	0	0	17178	581	21	5		5	VAT1	17	41168411	IGR	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	1844013	41168411	40026799	85	5369											
GH2	2689	genome.wustl.edu	37	chr17	61958788	61958788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatagcgttgtcaaaaagCctggataagggaatggttgg	13	9	14	5	1	1	0	1	0	0	0	1	2	1	2	1	4	3	3	1	4	5	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr17:61958788C>T	ENST00000423893.2	-	2	163	c.102G>A	c.(100-102)agG>agA	p.R34R	GH2_ENST00000456543.2_Silent_p.R34R|GH2_ENST00000332800.7_Silent_p.R34R|GH2_ENST00000449787.2_Silent_p.R34R			P01242	SOM2_HUMAN	growth hormone 2	34					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGTCAAAAAGCCTGGATAAGG	0.577																																																	0													146	157	153					17																	61958788		2203	4300	6503	SO:0001819	synonymous_variant	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.102G>A	17.37:g.61958788C>T			B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R34	ENST00000423893.2	37	c.102	CCDS11647.1	17																																																																																			GH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core	ENSG00000136487		0.577	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	-	0	86	0	C	NM_002059		61958788	-1	tier1	-	no_errors	ENST00000332800	ensembl	human	known	74_37	silent	12.50	35	5	SNP	1.000	T	T	61958788	C	T	61958788	2	4	20	1	0	0	0	0	0	0	0	1	6394	738	26	3		3	GH2	17	61958788	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	20790377	61958788	19236422	86	5370											
EPB41L3	23136	genome.wustl.edu	37	chr18	5428401	5428401	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgtttattcgcagccGgtcgcgatatatcaacagac	12	11	8	10	4	2	1	1	0	1	1	4	2	2	1	1	1	2	2	1	1	5	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr18:5428401G>T	ENST00000341928.2	-	9	1316	c.976C>A	c.(976-978)Cgg>Agg	p.R326R	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.R326R|EPB41L3_ENST00000342933.3_Silent_p.R326R|EPB41L3_ENST00000540638.2_Silent_p.R326R|EPB41L3_ENST00000400111.3_Silent_p.R326R	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.R326R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418																																																	1	Substitution - coding silent(1)	lung(1)											140	144	143					18																	5428401		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.976C>A	18.37:g.5428401G>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R326	ENST00000341928.2	37	c.976	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000082397		0.418	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1		0	67	0	G	NM_012307		5428401	-1			no_errors	ENST00000341928	ensembl	human	known	74_37	silent	7.89	35	3	SNP	1.000	T	T	5428401	G	T	5428401	2	4	20	1	0	0	0	0	0	0	0	1	5170	1115	39	2		2	EPB41L3	18	5428401	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		5428401	72648847	87	5371											
B4GALT6	9331	genome.wustl.edu	37	chr18	29210978	29210978	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcatttctccacatccGtaatagttccggtcattttc	7	15	7	12	3	2	0	1	0	1	0	6	0	4	0	3	2	0	3	3	2	2	6			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr18:29210978G>T	ENST00000306851.5	-	6	1016	c.720C>A	c.(718-720)taC>taA	p.Y240*	B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.Y201*|B4GALT6_ENST00000383131.3_Nonsense_Mutation_p.Y201*	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	240					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.Y240Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTCCACATCCGTAATAGTTCC	0.403																																																	1	Substitution - coding silent(1)	endometrium(1)											161	135	144					18																	29210978		2203	4300	6503	SO:0001587	stop_gained	0			AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"Beta 4-glycosyltransferases"	929	protein-coding gene	gene with protein product	"UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.720C>A	18.37:g.29210978G>T	ENSP00000306459:p.Tyr240*		O60514|Q6NT09	Nonsense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.Y240*	ENST00000306851.5	37	c.720	CCDS11900.1	18	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863785	0.71949	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	.	.	.	5.5	-8.06	0.01102	.	0.083044	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.2684	19.7104	0.96095	0.7244:0.0:0.2756:0.0	.	.	.	.	X	240;201;201	.	ENSP00000237019:Y201X	Y	-	3	2	B4GALT6	27464976	0.041000	0.20044	0.194000	0.23346	0.964000	0.63967	-0.469000	0.06648	-1.819000	0.01216	-0.482000	0.04802	TAC	B4GALT6	-	pfam_Galactosyl_T_C,prints_Galactosyl_T	ENSG00000118276		0.403	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT6	HGNC	protein_coding	OTTHUMT00000254942.2	-	0	82	0	G	NM_004775		29210978	-1	tier1	-	no_errors	ENST00000306851	ensembl	human	known	74_37	nonsense	20.51	31	8	SNP	0.340	T	T	29210978	G	T	29210978	4	4	20	1	0	0	0	0	0	1	0	0	1276	1140	40	2	444	2	B4GALT6	18	29210978	Nonsense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	23782577	29210978	48866270	88	5372											
COL5A3	50509	genome.wustl.edu	37	chr19	10083616	10083616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctccctttggctccatcCtctccagggggacctttctt	4	13	8	16	1	2	0	0	0	2	0	6	1	5	1	5	3	0	2	5	3	0	3			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:10083616C>T	ENST00000264828.3	-	51	3838	c.3753G>A	c.(3751-3753)gaG>gaA	p.E1251E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1251	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGCTCCATCCTCTCCAGGGG	0.567																																																	0													37	30	32					19																	10083616		2202	4300	6502	SO:0001819	synonymous_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3753G>A	19.37:g.10083616C>T			Q9NZQ6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.E1251	ENST00000264828.3	37	c.3753	CCDS12222.1	19																																																																																			COL5A3	-	NULL	ENSG00000080573		0.567	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	-	0	84	0	C	NM_015719		10083616	-1	tier1	-	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	21.05	45	12	SNP	1.000	T	T	10083616	C	T	10083616	2	4	20	1	0	0	0	0	0	0	0	1	3705	680	24	3		3	COL5A3	19	10083616	Silent	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09		10083616	49045367	89	5373											
SCN1B	6324	genome.wustl.edu	37	chr19	35524873	35524873	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccccacagacgctcCgggtacagaacccagctctg	8	6	9	18	2	1	2	0	0	1	2	3	2	3	2	5	1	3	3	5	1	2	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:35524873C>T	ENST00000262631.5	+	3	585				CTD-2527I21.9_ENST00000601692.1_RNA|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000415950.3_Silent_p.S226S|SCN1B_ENST00000595652.1_Intron	NM_001037.4	NP_001028.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit						axon guidance (GO:0007411)|cardiac conduction (GO:0061337)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|corticospinal neuron axon guidance (GO:0021966)|locomotion (GO:0040011)|membrane depolarization (GO:0051899)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during Purkinje myocyte cell action potential (GO:0086047)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|intercalated disc (GO:0014704)|node of Ranvier (GO:0033268)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)|voltage-gated sodium channel activity involved in Purkinje myocyte action potential (GO:0086062)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Valproic Acid(DB00313)|Zonisamide(DB00909)	Acagacgctccgggtacagaa	0.612																																																	0													55	67	63					19																	35524873		1188	2205	3393	SO:0001627	intron_variant	0				CCDS12441.1, CCDS46047.1	19q13.12	2014-09-17	2012-02-28		ENSG00000105711	ENSG00000105711		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10586	protein-coding gene	gene with protein product		600235	"sodium channel, voltage-gated, type I, beta polypeptide", "sodium channel, voltage-gated, type I, beta"			8394762	Standard	NM_001037		Approved		uc002nxo.2	Q07699	OTTHUMG00000182472	ENST00000262631.5:c.448+230C>T	19.37:g.35524873C>T			Q5TZZ4|Q6TN97	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_V-set	p.S226	ENST00000262631.5	37	c.678	CCDS12441.1	19																																																																																			SCN1B	-	NULL	ENSG00000105711		0.612	SCN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN1B	HGNC	protein_coding	OTTHUMT00000461567.1	-	0	106	0	C			35524873	1	tier1	-	no_errors	ENST00000415950	ensembl	human	novel	74_37	silent	32.56	29	14	SNP	0.001	T	T	35524873	C	T	35524873	1	4	20	0	1	0	0	0	0	0	0	0	13960	639	23	1		1	SCN1B	19	35524873	Intron	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	25441257	35524873	23604110	90	5374											
DYRK1B	9149	genome.wustl.edu	37	chr19	40319120	40319120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcaggttcagcgagacGccgcggaagtgggtgttgcg	6	7	19	9	6	2	1	2	0	0	1	2	3	2	2	1	4	2	2	1	4	1	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:40319120G>A	ENST00000593685.1	-	6	1092	c.624C>T	c.(622-624)ggC>ggT	p.G208G	DYRK1B_ENST00000348817.3_Silent_p.G208G|DYRK1B_ENST00000597639.1_Silent_p.G208G|DYRK1B_ENST00000323039.5_Silent_p.G208G|DYRK1B_ENST00000430012.2_Silent_p.G208G			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TCAGCGAGACGCCGCGGAAGT	0.602																																																	0													68	65	66					19																	40319120		2203	4300	6503	SO:0001819	synonymous_variant	0			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.624C>T	19.37:g.40319120G>A			O75258|O75788|O75789	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G208	ENST00000593685.1	37	c.624	CCDS12543.1	19																																																																																			DYRK1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105204		0.602	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2		0	59	0	G	NM_004714		40319120	-1			no_errors	ENST00000323039	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.190	A	A	40319120	G	A	40319120	2	1	20	1	0	0	0	0	0	0	0	1	4869	1074	38	1		1	DYRK1B	19	40319120	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	4794247	40319120	18809863	91	5375											
FAM83E	54854	genome.wustl.edu	37	chr19	49113245	49113245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagccccgcacgacacGgacatccacgttctgttggt	7	8	11	15	4	1	0	0	0	1	0	2	2	2	1	3	2	2	5	3	2	0	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:49113245G>A	ENST00000263266.3	-	3	835	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	216										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGCACGACACGGACATCCACG	0.637																																																	0													25	30	28					19																	49113245		2139	4235	6374	SO:0001583	missense	0			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.646C>T	19.37:g.49113245G>A	ENSP00000263266:p.Arg216Cys		Q9NXK1	Missense_Mutation	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R216C	ENST00000263266.3	37	c.646	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342079	0.41498	.	.	ENSG00000105523	ENST00000263266	T	0.23950	1.88	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000001	T	0.57315	0.2045	M	0.90309	3.105	0.48236	D	0.99961	D	0.89917	1.0	D	0.91635	0.999	T	0.66622	-0.5877	10	0.87932	D	0	-8.8118	13.4348	0.61077	0.0:0.0:1.0:0.0	.	216	Q2M2I3	FA83E_HUMAN	C	216	ENSP00000263266:R216C	ENSP00000263266:R216C	R	-	1	0	FAM83E	53805057	1.000000	0.71417	0.979000	0.43373	0.056000	0.15407	4.275000	0.58927	2.345000	0.79718	0.555000	0.69702	CGT	FAM83E	-	pfam_DUF1669	ENSG00000105523		0.637	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	-	0	81	0	G	NM_017708		49113245	-1	tier1	-	no_errors	ENST00000263266	ensembl	human	known	74_37	missense	32.08	36	17	SNP	0.970	A	A	49113245	G	A	49113245	3	1	20	1	0	0	0	0	1	0	0	0	5659	1116	39	1	802	1	FAM83E	19	49113245	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	8794125	49113245	10015738	92	5376											
ZNF613	79898	genome.wustl.edu	37	chr19	52447931	52447931	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgaatgcactgaatgTgacaaagcattccgctggaa	13	9	9	10	1	0	3	0	3	0	0	1	4	1	4	2	1	2	3	2	1	5	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:52447931T>C	ENST00000293471.6	+	6	1474	c.795T>C	c.(793-795)tgT>tgC	p.C265C	ZNF613_ENST00000391794.4_Silent_p.C229C	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GCACTGAATGTGACAAAGCAT	0.443																																																	0													83	90	88					19																	52447931		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.795T>C	19.37:g.52447931T>C			Q96SS9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C265	ENST00000293471.6	37	c.795	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.443	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	-	0	73	0	T	NM_024840		52447931	1	tier1	-	no_errors	ENST00000293471	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.964	C	C	52447931	T	C	52447931	2	2	20	1	0	0	0	0	0	0	0	1	18086	1702	59	4		4	ZNF613	19	52447931	Silent	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09	3334686	52447931	6681052	93	5377											
ZIM2	23619	genome.wustl.edu	37	chr19	57290775	57290775	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtatgtctgctgtctgTctccattgcatatgattcct	6	17	7	11	0	3	1	0	1	3	0	5	1	4	1	2	0	2	3	2	0	2	4			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:57290775T>G	ENST00000391708.3	-	11	1254	c.712A>C	c.(712-714)Aca>Cca	p.T238P	ZIM2_ENST00000601070.1_Missense_Mutation_p.T238P|ZIM2_ENST00000599935.1_Missense_Mutation_p.T238P|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.T238P|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.T238P	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	238	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTGCTGTCTGTCTCCATTGCA	0.502																																																	0													246	185	206					19																	57290775		2203	4300	6503	SO:0001583	missense	0			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.712A>C	19.37:g.57290775T>G	ENSP00000375589:p.Thr238Pro		Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T238P	ENST00000391708.3	37	c.712	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	T	12.06	1.826015	0.32237	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04502	3.61;3.61	4.57	1.24	0.21308	Krueppel-associated box (1);	.	.	.	.	T	0.01558	0.0050	N	0.01168	-0.975	.	.	.	B	0.25904	0.137	B	0.23018	0.043	T	0.42258	-0.9462	8	0.27082	T	0.32	.	3.8163	0.08817	0.0:0.5684:0.2049:0.2268	.	238	Q9NZV7	ZIM2_HUMAN	P	238	ENSP00000375589:T238P;ENSP00000221722:T238P	ENSP00000221722:T238P	T	-	1	0	ZIM2	61982587	0.000000	0.05858	0.037000	0.18230	0.022000	0.10575	0.451000	0.21779	0.617000	0.30160	-0.242000	0.12053	ACA	ZIM2	-	pfscan_Krueppel-associated_box	ENSG00000269699		0.502	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	-	0	89	0	T			57290775	-1	tier1	-	no_errors	ENST00000221722	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.004	G	G	57290775	T	G	57290775	3	3	20	1	0	0	0	0	1	0	0	0	17732	1667	58	4	879	4	ZIM2	19	57290775	Missense_Mutation	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09	4842844	57290775	1838208	94	5378											
ZNF671	79891	genome.wustl.edu	37	chr19	58232292	58232292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctgtgtgaacttcctGgtgtcgaatgagattagact	8	13	12	8	1	0	3	0	2	0	2	3	5	2	3	2	2	1	1	2	2	3	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr19:58232292G>T	ENST00000317398.6	-	4	1257	c.1162C>A	c.(1162-1164)Cag>Aag	p.Q388K	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.Q290K	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAACTTCCTGGTGTCGAATG	0.483																																																	0													86	71	76					19																	58232292		2203	4300	6503	SO:0001583	missense	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.1162C>A	19.37:g.58232292G>T	ENSP00000321848:p.Gln388Lys		A6NF07|Q9H5E9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q388K	ENST00000317398.6	37	c.1162	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473985	0.63737	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	T;T	0.17528	2.27;2.27	1.88	0.772	0.18510	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07863	0.0197	N	0.05441	-0.05	0.21841	N	0.999511	B	0.31680	0.335	B	0.28385	0.089	T	0.31447	-0.9943	9	0.46703	T	0.11	.	7.4335	0.27141	0.0:0.0:0.7399:0.2601	.	388	Q8TAW3	ZN671_HUMAN	K	388;290	ENSP00000321848:Q388K;ENSP00000338670:Q290K	ENSP00000321848:Q388K	Q	-	1	0	ZNF671	62924104	0.000000	0.05858	0.015000	0.15790	0.971000	0.66376	0.433000	0.21477	0.333000	0.23563	0.467000	0.42956	CAG	ZNF671	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083814		0.483	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0	72	0	G	NM_024833		58232292	-1	tier1	-	no_errors	ENST00000317398	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.960	T	T	58232292	G	T	58232292	3	4	20	1	0	0	0	0	1	0	0	0	18126	1357	47	3	446	3	ZNF671	19	58232292	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	941517	58232292	896691	95	5379											
SEL1L2	80343	genome.wustl.edu	37	chr20	13850835	13850835	+	Silent	SNP	G	G	A																															agaagaccaagcccatgaagGccgattgcattgccctagaa																								rs185157057		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:13850835G>A	ENST00000284951.5	-	13	1193	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.G373G			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	373						integral component of membrane (GO:0016021)		p.G373G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCCCATGAAGGCCGATTGCAT	0.323																																																	1	Substitution - coding silent(1)	large_intestine(1)											72	73	73					20																	13850835		1802	4075	5877	SO:0001819	synonymous_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1119C>T	20.37:g.13850835G>A			B4DXX5	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.G373	ENST00000284951.5	37	c.1119		20																																																																																			SEL1L2	-	smart_Sel1-like	ENSG00000101251		0.323	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	-	0	75	0	G	NM_025229		13850835	-1	tier1	-	no_errors	ENST00000284951	ensembl	human	known	74_37	silent	29.63	38	16	SNP	1.000	A	A	13850835	G	A	13850835	2	1	20	1	0	0	0	0	0	0	0	1	14056	1190	42	3		3	SEL1L2	20	13850835	Silent	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		13850835	49174685	96	5380	19	2									
SEL1L2	80343	genome.wustl.edu	37	chr20	13850839	13850840	+	Frame_Shift_Ins	INS	-	-	T																															accaagcccatgaaggccgaINSttgcattgccctagaagagt																								rs199815314		TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:13850839_13850840insT	ENST00000284951.5	-	13	1188_1189	c.1114_1115insA	c.(1114-1116)atcfs	p.I372fs	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Frame_Shift_Ins_p.I372fs			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	372						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATGAAGGCCGATTGCATTGCCC	0.337																																																	0																																										SO:0001589	frameshift_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1115dupA	20.37:g.13850841_13850841dupT	ENSP00000284951:p.Ile372fs		B4DXX5	Frame_Shift_Ins	INS	pfam_Sel1-like,smart_Sel1-like	p.I372fs	ENST00000284951.5	37	c.1115_1114		20																																																																																			SEL1L2	-	smart_Sel1-like	ENSG00000101251		0.337	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3		0	71	0	-	NM_025229		13850840	-1	tier1		no_errors	ENST00000284951	ensembl	human	known	74_37	frame_shift_ins	28.30	38	15	INS	1.000:1.000	T	T	13850840	-	T	13850839	7	5	20	1	0	1	1	0	0	0	0	0	14056	333	12	0	983	0	SEL1L2	20	13850839	Frame_Shift_Ins	INS	-	TCGA-IG-A3YC-01A-11D-A247-09	4	13850839	49174681	97	5381	19	2									
CD93	22918	genome.wustl.edu	37	chr20	23066567	23066567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaacttgctcatcctcGccgtcagggctgcctcccgc	5	9	9	18	3	2	1	2	0	0	1	6	1	5	1	5	1	3	2	5	1	1	1	rs375847570	byFrequency	TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:23066567G>T	ENST00000246006.4	-	1	410	c.263C>A	c.(262-264)gCg>gAg	p.A88E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	88	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTCATCCTCGCCGTCAGGGC	0.662																																																	0													38	29	32					20																	23066567		2202	4298	6500	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.263C>A	20.37:g.23066567G>T	ENSP00000246006:p.Ala88Glu		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A88E	ENST00000246006.4	37	c.263	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.270145	0.00259	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.80123	-1.34	5.16	-0.457	0.12186	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.735860	0.03036	N	0.152810	T	0.56558	0.1993	N	0.04297	-0.235	0.09310	N	1	B	0.23377	0.084	B	0.27262	0.078	T	0.50833	-0.8781	10	0.08381	T	0.77	-2.1077	1.5173	0.02509	0.3102:0.1256:0.4245:0.1397	.	88	Q9NPY3	C1QR1_HUMAN	E	88	ENSP00000246006:A88E	ENSP00000246006:A88E	A	-	2	0	CD93	23014567	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.222000	0.09190	-0.129000	0.11620	-0.150000	0.13652	GCG	CD93	-	pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000125810		0.662	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0	122	0	G	NM_012072		23066567	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T	T	23066567	G	T	23066567	3	4	20	1	0	0	0	0	1	0	0	0	3054	1087	38	2	1703	2	CD93	20	23066567	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	9215728	23066567	39958953	98	5382											
ZHX3	23051	genome.wustl.edu	37	chr20	39831306	39831306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtttgactcatcatcctcagGgtcacaggcacccagccctg	8	9	9	15	0	4	1	4	1	0	0	5	1	5	1	3	2	1	2	3	2	0	1			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:39831306G>T	ENST00000309060.3	-	4	2666	c.2251C>A	c.(2251-2253)Cct>Act	p.P751T	ZHX3_ENST00000540170.1_Missense_Mutation_p.P751T|ZHX3_ENST00000432768.2_Missense_Mutation_p.P751T|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.P751T|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.P751T|ZHX3_ENST00000560361.1_Missense_Mutation_p.P751T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	751					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCATCCTCAGGGTCACAGGCA	0.552																																																	0													80	78	79					20																	39831306		2203	4300	6503	SO:0001583	missense	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2251C>A	20.37:g.39831306G>T	ENSP00000312222:p.Pro751Thr		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P751T	ENST00000309060.3	37	c.2251	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.862|3.862	-0.029616|-0.029616	0.07589|0.07589	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	.|T;T;T	.|0.12255	.|2.92;2.92;2.7	6.07|6.07	4.05|4.05	0.47172|0.47172	.|.	0.420224|0.420224	0.27433|0.27433	N|N	0.019393|0.019393	T|T	0.13628|0.13628	0.0330|0.0330	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.23249	.|0.0;0.0;0.082	.|B;B;B	.|0.21708	.|0.001;0.002;0.036	T|T	0.19778|0.19778	-1.0295|-1.0295	6|10	.|0.40728	.|T	.|0.16	-5.6097|-5.6097	6.7666|6.7666	0.23571|0.23571	0.0726:0.1194:0.6696:0.1384|0.0726:0.1194:0.6696:0.1384	.|.	.|751;751;751	.|A8K8Q0;Q9H4I2;F5H820	.|.;ZHX3_HUMAN;.	H|T	459|751;751;751;751;529	.|ENSP00000362360:P751T;ENSP00000442290:P751T;ENSP00000443783:P751T	.|ENSP00000312222:P751T	P|P	-|-	2|1	0|0	ZHX3|ZHX3	39264720|39264720	0.001000|0.001000	0.12720|0.12720	0.831000|0.831000	0.32960|0.32960	0.483000|0.483000	0.33249|0.33249	0.934000|0.934000	0.28910|0.28910	0.821000|0.821000	0.34540|0.34540	0.655000|0.655000	0.94253|0.94253	CCC|CCT	ZHX3	-	NULL	ENSG00000174306		0.552	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	-	0	58	0	G	NM_015035		39831306	-1	tier1	-	no_errors	ENST00000309060	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.001	T	T	39831306	G	T	39831306	3	4	20	1	0	0	0	0	1	0	0	0	17725	1232	43	3	627	3	ZHX3	20	39831306	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09	16764739	39831306	23194214	99	5383											
C20orf135	140701	genome.wustl.edu	37	chr20	62493609	62493609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgcacttcccgcccgCgcacctggtggtctacggct	3	8	11	19	5	1	0	0	0	1	0	2	0	2	0	5	3	2	3	5	3	1	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr20:62493609C>T	ENST00000369916.3	+	1	1044	c.716C>T	c.(715-717)gCg>gTg	p.A239V	C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000369927.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	239							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						TTCCCGCCCGCGCACCTGGTG	0.682																																																	0													37	30	32					20																	62493609		2203	4297	6500	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.716C>T	20.37:g.62493609C>T	ENSP00000358932:p.Ala239Val			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.A239V	ENST00000369916.3	37	c.716	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034915	0.19590	.	.	ENSG00000183260	ENST00000369916	T	0.44482	0.92	4.89	2.74	0.32292	.	0.710929	0.13691	N	0.369545	T	0.33673	0.0871	L	0.42245	1.32	0.09310	N	1	P	0.39520	0.676	B	0.39217	0.294	T	0.20672	-1.0268	10	0.66056	D	0.02	-8.1462	6.6082	0.22737	0.4304:0.4195:0.1501:0.0	.	239	Q9H3Z7	ABHGB_HUMAN	V	239	ENSP00000358932:A239V	ENSP00000358932:A239V	A	+	2	0	ABHD16B	61964053	0.000000	0.05858	0.064000	0.19789	0.237000	0.25408	0.347000	0.20014	1.031000	0.39867	0.313000	0.20887	GCG	ABHD16B	-	pfam_AB_hydrolase_1	ENSG00000183260		0.682	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1	-	0	42	0	C			62493609	1	tier1	-	no_errors	ENST00000369916	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.002	T	T	62493609	C	T	62493609	3	4	20	1	0	0	0	0	1	0	0	0	2095	768	27	1	718	1	C20orf135	20	62493609	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	22662303	62493609	531911	100	5384											
PDXP	57026	genome.wustl.edu	37	chr22	38055258	38055258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgagcacttctccttcGccaagctgagggaggcgtgc	8	7	13	13	4	1	1	0	1	1	0	3	4	1	2	2	2	3	2	2	2	1	2			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chr22:38055258G>T	ENST00000215904.6	+	1	525	c.469G>T	c.(469-471)Gcc>Tcc	p.A157S	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	157					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					CTTCTCCTTCGCCAAGCTGAG	0.766																																																	0													13	13	13					22																	38055258		2110	4163	6273	SO:0001583	missense	0			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.469G>T	22.37:g.38055258G>T	ENSP00000215904:p.Ala157Ser		Q9UGY2	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA	p.A157S	ENST00000215904.6	37	c.469	CCDS13953.1	22	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926211	0.34002	.	.	ENSG00000241360	ENST00000215904	T	0.29917	1.55	4.81	-6.05	0.02172	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);Nitrophenylphosphatase-like  domain (1);	.	.	.	.	T	0.15089	0.0364	L	0.35487	1.065	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.28073	-1.0055	9	0.13108	T	0.6	-6.2685	6.0371	0.19714	0.1957:0.0:0.2665:0.5378	.	157	Q96GD0	PLPP_HUMAN	S	157	ENSP00000215904:A157S	ENSP00000215904:A157S	A	+	1	0	PDXP	36385204	1.000000	0.71417	0.934000	0.37439	0.001000	0.01503	1.454000	0.35178	-0.629000	0.05575	-0.251000	0.11542	GCC	PDXP	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA	ENSG00000241360		0.766	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXP	HGNC	protein_coding	OTTHUMT00000104105.2		0	10	0	G	NM_020315		38055258	1			no_errors	ENST00000215904	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.973	T	T	38055258	G	T	38055258	3	4	20	1	0	0	0	0	1	0	0	0	11737	1087	38	2	471	2	PDXP	22	38055258	Missense_Mutation	SNP	G	TCGA-IG-A3YC-01A-11D-A247-09		38055258	13249308	101	5385											
NAP1L3	4675	genome.wustl.edu	37	chrX	92927199	92927199	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagcacctcatttcTgaagtatgggttgggtagaa	10	12	10	9	0	3	2	2	1	1	1	3	2	3	2	2	2	1	4	2	2	4	5			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chrX:92927199T>G	ENST00000373079.3	-	1	1368	c.1105A>C	c.(1105-1107)Aga>Cga	p.R369R	FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Silent_p.R362R|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	369					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ACCTCATTTCTGAAGTATGGG	0.408																																																	0													44	40	41					X																	92927199		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1105A>C	X.37:g.92927199T>G			B2RCM0|O60788	Silent	SNP	pfam_NAP_family	p.R369	ENST00000373079.3	37	c.1105	CCDS14465.1	X																																																																																			NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.408	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0	38	0	T	NM_004538		92927199	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.996	G	G	92927199	T	G	92927199	2	3	20	1	0	0	0	0	0	0	0	1	10196	1588	55	4		4	NAP1L3	23	92927199	Silent	SNP	T	TCGA-IG-A3YC-01A-11D-A247-09		92927199	62343361	102	5386											
HCFC1	3054	genome.wustl.edu	37	chrX	153220290	153220290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggagtgggccggccgagCacggggccccggtggccatc	6	3	18	14	4	0	0	0	0	0	0	1	2	0	1	5	7	1	1	5	7	1	0			TCGA-IG-A3YC-01A-11D-A247-09	TCGA-IG-A3YC-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c529fe8f-c004-4642-a506-93e894bc5712	648b50f7-18ce-4188-83d1-e095f4b0b98b	g.chrX:153220290C>A	ENST00000310441.7	-	17	4526	c.3560G>T	c.(3559-3561)tGc>tTc	p.C1187F	HCFC1_ENST00000369984.4_Missense_Mutation_p.C1187F|HCFC1_ENST00000354233.3_Missense_Mutation_p.C1118F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1187					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCGGCCGAGCACGGGGCCCC	0.701																																																	0													4	6	6					X																	153220290		1761	3729	5490	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3560G>T	X.37:g.153220290C>A	ENSP00000309555:p.Cys1187Phe		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.C1187F	ENST00000310441.7	37	c.3560	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	c	4.275	0.050226	0.08243	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03635	3.87;3.89;3.86	4.53	2.75	0.32379	.	0.835233	0.10885	N	0.623323	T	0.02727	0.0082	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.46721	-0.9171	10	0.41790	T	0.15	.	7.6633	0.28415	0.0:0.7058:0.0:0.2942	.	1187	P51610	HCFC1_HUMAN	F	1187;1187;1118	ENSP00000309555:C1187F;ENSP00000359001:C1187F;ENSP00000346174:C1118F	ENSP00000309555:C1187F	C	-	2	0	HCFC1	152873484	0.000000	0.05858	0.002000	0.10522	0.158000	0.22134	0.275000	0.18698	0.230000	0.21059	0.525000	0.51046	TGC	HCFC1	-	NULL	ENSG00000172534		0.701	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	-	0	13	0	C	NM_005334		153220290	-1	tier1	-	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.058	A	A	153220290	C	A	153220290	3	1	20	1	0	0	0	0	1	0	0	0	7018	710	25	3	2587	3	HCFC1	23	153220290	Missense_Mutation	SNP	C	TCGA-IG-A3YC-01A-11D-A247-09	60293091	153220290	2050270	103	5387											
DNAJC11	55735	genome.wustl.edu	37	chr1	6704700	6704700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggagatcttcctctcagCtccgtactccaccaccgtcc	6	10	6	19	2	2	1	1	0	2	1	7	2	6	1	7	1	2	2	7	1	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:6704700C>A	ENST00000377577.5	-	10	1138	c.1015G>T	c.(1015-1017)Gct>Tct	p.A339S	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A301S|DNAJC11_ENST00000377573.5_Missense_Mutation_p.A249S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Missense_Mutation_p.A339S	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	339						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTCTCAGCTCCGTACTCC	0.547																																																	0													87	83	84					1																	6704700		2203	4300	6503	SO:0001583	missense	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1015G>T	1.37:g.6704700C>A	ENSP00000366800:p.Ala339Ser		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A339S	ENST00000377577.5	37	c.1015	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795260	0.50208	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.27557	2.26;2.45;2.03;1.66	5.58	5.58	0.84498	.	0.107271	0.64402	D	0.000005	T	0.50257	0.1605	M	0.72894	2.215	0.80722	D	1	P;P;P	0.46277	0.501;0.875;0.862	B;P;P	0.53549	0.058;0.729;0.451	T	0.46762	-0.9168	10	0.51188	T	0.08	-10.6364	18.5658	0.91116	0.0:1.0:0.0:0.0	.	249;339;339	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	S	339;339;301;249	ENSP00000366800:A339S;ENSP00000294401:A339S;ENSP00000444020:A301S;ENSP00000366796:A249S	ENSP00000294401:A339S	A	-	1	0	DNAJC11	6627287	1.000000	0.71417	0.241000	0.24154	0.122000	0.20287	7.249000	0.78278	2.624000	0.88883	0.585000	0.79938	GCT	DNAJC11	-	NULL	ENSG00000007923		0.547	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	-	0	22	0	C	NM_018198		6704700	-1	tier1	-	no_errors	ENST00000377577	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	A	A	6704700	C	A	6704700	3	1	21	1	0	0	0	0	1	0	0	0	4644	797	28	3	692	3	DNAJC11	1	6704700	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09		6704700	242545921	1	5388											
CASZ1	54897	genome.wustl.edu	37	chr1	10715781	10715781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgctgcagtcgtccagcggGctgaaacgcatgaagccgtg	9	6	14	12	5	0	2	0	2	0	0	2	2	1	2	2	1	4	4	2	1	2	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:10715781G>A	ENST00000377022.3	-	9	1907	c.1590C>T	c.(1588-1590)agC>agT	p.S530S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.S530S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	530					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGTCCAGCGGGCTGAAACGCA	0.607																																																	0													212	153	173					1																	10715781		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1590C>T	1.37:g.10715781G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S530	ENST00000377022.3	37	c.1590	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.607	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	53	0	G	NM_017766		10715781	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	8.16	43	4	SNP	1.000	A	A	10715781	G	A	10715781	2	1	21	1	0	0	0	0	0	0	0	1	2692	1194	42	3		3	CASZ1	1	10715781	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4011081	10715781	238534840	2	5389											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16053861	16053861	+	Frame_Shift_Del	DEL	C	C	-																															cctggtgctcccgtgctgagCccccagaccagtcctttcgg																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:16053861delC	ENST00000375799.3	+	9	1521	c.1294delC	c.(1294-1296)cccfs	p.P433fs	PLEKHM2_ENST00000375793.2_Frame_Shift_Del_p.P413fs|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	433					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCGTGCTGAGCCCCCAGACCA	0.647																																																	0													8	9	9					1																	16053861		1855	4079	5934	SO:0001589	frameshift_variant	0			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1294delC	1.37:g.16053861delC	ENSP00000364956:p.Pro433fs		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Frame_Shift_Del	DEL	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.P433fs	ENST00000375799.3	37	c.1294	CCDS44063.1	1																																																																																			PLEKHM2	-	NULL	ENSG00000116786		0.647	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1		0	27	0	C	NM_015164		16053861	1	tier1		no_errors	ENST00000375799	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	16053861	C	-	16053861	7	5	21	1	0	1	0	1	0	0	0	0	12120	739	26	0	1328	0	PLEKHM2	1	16053861	Frame_Shift_Del	DEL	C	TCGA-IG-A4P3-01A-11D-A27G-09	5338080	16053861	233196760	3	5390											
KIAA0090	23065	genome.wustl.edu	37	chr1	19559457	19559457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggctgttaccatcaccatCatcttctggaggttgaattc	9	13	9	10	0	4	1	2	1	2	0	5	3	4	2	2	3	1	3	2	3	2	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:19559457C>G	ENST00000477853.1	-	14	1647	c.1605G>C	c.(1603-1605)atG>atC	p.M535I	EMC1_ENST00000375199.3_Missense_Mutation_p.M534I|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Missense_Mutation_p.M513I	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	535						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CCATCACCATCATCTTCTGGA	0.453																																																	0													274	285	281					1																	19559457		2203	4300	6503	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1605G>C	1.37:g.19559457C>G	ENSP00000420608:p.Met535Ile		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam	p.M535I	ENST00000477853.1	37	c.1605	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.961998|2.961998	0.53400|0.53400	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|T;T;T	.|0.21361	.|2.02;2.02;2.01	5.27|5.27	4.35|4.35	0.52113|0.52113	.|.	.|0.068741	.|0.85682	.|N	.|0.000000	T|T	0.19248|0.19248	0.0462|0.0462	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.33171	.|0.02;0.043;0.4;0.278	.|B;B;B;B	.|0.32465	.|0.036;0.053;0.146;0.07	T|T	0.03306|0.03306	-1.1050|-1.1050	5|10	.|0.28530	.|T	.|0.3	-38.8483|-38.8483	14.1041|14.1041	0.65078|0.65078	0.1515:0.8485:0.0:0.0|0.1515:0.8485:0.0:0.0	.|.	.|513;534;534;535	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	H|I	269|535;534;513	.|ENSP00000420608:M535I;ENSP00000364345:M534I;ENSP00000364354:M513I	.|ENSP00000364345:M534I	D|M	-|-	1|3	0|0	KIAA0090|KIAA0090	19432044|19432044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.313000|7.313000	0.78978|0.78978	1.430000|1.430000	0.47334|0.47334	-0.182000|-0.182000	0.12963|0.12963	GAT|ATG	EMC1	-	NULL	ENSG00000127463		0.453	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	-	0	106	0	C	NM_015047		19559457	-1	tier1	-	no_errors	ENST00000477853	ensembl	human	known	74_37	missense	20.21	75	19	SNP	1.000	G	G	19559457	C	G	19559457	3	3	21	1	0	0	0	0	1	0	0	0	8180	826	29	5	1416	5	KIAA0090	1	19559457	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3505596	19559457	229691164	4	5391											
RPL11	6135	genome.wustl.edu	37	chr1	24019156	24019156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgcatccgcaaactctgtCtcaacatctgtgttggggag	8	12	10	11	2	3	0	1	0	3	0	6	1	4	1	1	2	2	3	1	2	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:24019156C>G	ENST00000374550.3	+	2	109	c.64C>G	c.(64-66)Ctc>Gtc	p.L22V	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	22					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CAAACTCTGTCTCAACATCTG	0.542																																																	0													131	130	130					1																	24019156		2203	4300	6503	SO:0001583	missense	0			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.64C>G	1.37:g.24019156C>G	ENSP00000363676:p.Leu22Val		P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.L22V	ENST00000374550.3	37	c.64	CCDS238.1	1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.698895	0.48307	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.78364	-1.17;-1.17;-1.17	5.07	5.07	0.68467	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	L	0.28274	0.84	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.32149	0.141;0.058	T	0.60449	-0.7261	10	0.16896	T	0.51	-3.3469	11.8977	0.52665	0.0:0.9198:0.0:0.0802	.	21;22	P62913-2;P62913	.;RL11_HUMAN	V	22;20;20	ENSP00000363676:L22V;ENSP00000390839:L20V;ENSP00000398888:L20V	ENSP00000363676:L22V	L	+	1	0	RPL11	23891743	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	4.507000	0.60434	2.352000	0.79861	0.585000	0.79938	CTC	RPL11	-	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	ENSG00000142676		0.542	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	HGNC	protein_coding	OTTHUMT00000008168.1	-	0	33	0	C	NM_000975		24019156	1	tier1	-	no_errors	ENST00000374550	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	G	G	24019156	C	G	24019156	3	3	21	1	0	0	0	0	1	0	0	0	13602	913	32	5	70	5	RPL11	1	24019156	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	4459699	24019156	225231465	5	5392											
KIAA0467	81888	genome.wustl.edu	37	chr1	43916150	43916150	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctggacccgcctcctctGagggagtggactggaccact	6	8	12	15	1	2	1	0	1	2	0	3	5	3	5	5	4	0	0	5	4	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:43916150G>A	ENST00000372425.4	-	0	1115				SZT2_ENST00000372442.1_Silent_p.*2534*|SZT2_ENST00000562955.1_Silent_p.*3376*|SZT2-AS1_ENST00000396885.2_RNA			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCCTCCTCTGAGGGAGTGGA	0.607																																																	0													122	119	120					1																	43916150		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"hydroxypyruvate isomerase homolog (E. coli)"			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43916150G>A			D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Silent	SNP	NULL	p.*3376	ENST00000372425.4	37	c.10127	CCDS53309.1	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.607	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding			0	24	0	G	NM_031207		43916150	1			no_errors	ENST00000562955	ensembl	human	known	74_37	silent	11.54	23	3	SNP	1.000	A	A	43916150	G	A	43916150	1	1	21	0	1	0	0	0	0	0	0	0	8205	1285	45	3		3	KIAA0467	1	43916150	IGR	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	19896994	43916150	205334471	6	5393											
LRRC41	10489	genome.wustl.edu	37	chr1	46752057	46752057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacatggcgggagctgtgcaGaagaggtgagaaccgctgat	11	6	17	7	2	0	4	0	2	0	3	0	7	0	5	1	3	3	3	1	3	2	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:46752057G>C	ENST00000343304.6	-	4	757	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	158					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGCTGTGCAGAAGAGGTGAG	0.557																																																	0													58	60	59					1																	46752057		2203	4300	6503	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.472C>G	1.37:g.46752057G>C	ENSP00000343298:p.Leu158Val		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L158V	ENST00000343304.6	37	c.472	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	g	16.03	3.008311	0.54361	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.83992	-1.79	5.08	5.08	0.68730	.	0.331668	0.25708	N	0.028821	T	0.74084	0.3670	N	0.14661	0.345	0.31648	N	0.647114	P;P;B	0.35745	0.518;0.518;0.347	B;B;B	0.40477	0.246;0.33;0.094	T	0.78283	-0.2264	10	0.44086	T	0.13	-4.2606	14.2275	0.65871	0.0:0.1494:0.8506:0.0	.	158;136;158	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	V	158;136	ENSP00000343298:L158V	ENSP00000343298:L158V	L	-	1	2	LRRC41	46524644	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.586000	0.60984	2.389000	0.81357	0.430000	0.28490	CTG	LRRC41	-	NULL	ENSG00000132128		0.557	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1		0	18	0	G	NM_006369		46752057	-1			no_errors	ENST00000343304	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	C	C	46752057	G	C	46752057	3	2	21	1	0	0	0	0	1	0	0	0	9034	933	33	5	1994	5	LRRC41	1	46752057	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2835907	46752057	202498564	7	5394											
BEND5	79656	genome.wustl.edu	37	chr1	49193621	49193621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggatttattgatatccatGattttttcacagatgtactt	11	18	6	6	0	1	3	1	2	0	1	2	4	2	4	1	1	1	1	1	1	3	9			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:49193621G>C	ENST00000371833.3	-	6	1289	c.1203C>G	c.(1201-1203)atC>atG	p.I401M	BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	401	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						TGATATCCATGATTTTTTCAC	0.338																																																	0													178	170	173					1																	49193621		2203	4300	6503	SO:0001583	missense	0			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.1203C>G	1.37:g.49193621G>C	ENSP00000360899:p.Ile401Met		D3DQ27|Q96A62|Q9HAI3	Missense_Mutation	SNP	pfam_BEN_domain	p.I401M	ENST00000371833.3	37	c.1203	CCDS552.2	1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586881	0.66105	.	.	ENSG00000162373	ENST00000371833;ENST00000294347	.	.	.	5.84	5.84	0.93424	BEN domain (1);	0.000000	0.85682	D	0.000000	T	0.63581	0.2523	L	0.27053	0.805	0.49389	D	0.999782	D	0.69078	0.997	D	0.83275	0.996	T	0.60078	-0.7333	8	.	.	.	-12.8229	14.0253	0.64582	0.0:0.0:0.8492:0.1508	.	401	Q7L4P6	BEND5_HUMAN	M	401;113	.	.	I	-	3	3	BEND5	48966208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.427000	0.34881	2.779000	0.95612	0.591000	0.81541	ATC	BEND5	-	NULL	ENSG00000162373		0.338	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	-	0	71	0	G	NM_024603		49193621	-1	tier1	-	no_errors	ENST00000371833	ensembl	human	known	74_37	missense	15.52	49	9	SNP	1.000	C	C	49193621	G	C	49193621	3	2	21	1	0	0	0	0	1	0	0	0	1402	1280	45	5	66	5	BEND5	1	49193621	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2441564	49193621	200057000	8	5395											
C1orf163	65260	genome.wustl.edu	37	chr1	53153409	53153409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattacccaaatgttaaggGttggacacctttctgctgtt	10	14	8	9	0	1	0	0	0	1	0	1	1	1	1	2	2	2	4	2	2	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:53153409G>T	ENST00000371538.3	-	3	718	c.679C>A	c.(679-681)Ccc>Acc	p.P227T	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2												p.P227S(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						AATGTTAAGGGTTGGACACCT	0.522																																																	1	Substitution - Missense(1)	lung(1)											149	131	137					1																	53153409		2203	4300	6503	SO:0001583	missense	0																														ENST00000371538.3:c.679C>A	1.37:g.53153409G>T	ENSP00000360593:p.Pro227Thr			Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.P227T	ENST00000371538.3	37	c.679	CCDS570.1	1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.059105	0.00390	.	.	ENSG00000162377	ENST00000371538	T	0.41065	1.01	5.55	3.68	0.42216	.	0.188173	0.49305	D	0.000157	T	0.22975	0.0555	N	0.19112	0.55	0.23903	N	0.996517	B	0.17038	0.02	B	0.11329	0.006	T	0.16660	-1.0395	10	0.12103	T	0.63	-16.8545	7.9473	0.29993	0.2696:0.0:0.7304:0.0	.	227	Q96BR5	SELR1_HUMAN	T	227	ENSP00000360593:P227T	ENSP00000360593:P227T	P	-	1	0	SELRC1	52925997	0.998000	0.40836	0.279000	0.24732	0.083000	0.17756	2.782000	0.47758	1.363000	0.46019	-0.272000	0.10252	CCC	SELRC1	-	NULL	ENSG00000162377		0.522	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELRC1	HGNC	protein_coding	OTTHUMT00000023462.1		0	58	0	G			53153409	-1			no_errors	ENST00000371538	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.625	T	T	53153409	G	T	53153409	3	4	21	1	0	0	0	0	1	0	0	0	2018	1261	44	3	20	3	C1orf163	1	53153409	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3959788	53153409	196097212	9	5396											
TTC22	55001	genome.wustl.edu	37	chr1	55253446	55253446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggccagcgtgcggttgaagGcaggcagtctcttctgctcc	5	9	15	12	2	2	1	0	1	2	0	4	1	3	1	2	4	3	4	2	4	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:55253446G>T	ENST00000371276.4	-	3	780	c.677C>A	c.(676-678)gCc>gAc	p.A226D	TTC22_ENST00000371274.4_Missense_Mutation_p.A226D	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	226										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GCGGTTGAAGGCAGGCAGTCT	0.662																																																	0													63	55	57					1																	55253446		2203	4300	6503	SO:0001583	missense	0			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.677C>A	1.37:g.55253446G>T	ENSP00000360323:p.Ala226Asp		Q9NWT4	Missense_Mutation	SNP	smart_TPR_repeat	p.A226D	ENST00000371276.4	37	c.677	CCDS44152.1	1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518444	0.27211	.	.	ENSG00000006555	ENST00000371276;ENST00000371274;ENST00000448308	T;T	0.46819	0.86;2.7	4.49	4.49	0.54785	Tetratricopeptide-like helical (1);	0.286229	0.35013	N	0.003514	T	0.33789	0.0875	N	0.19112	0.55	0.39771	D	0.97216	B;B	0.30281	0.18;0.275	B;B	0.30646	0.082;0.118	T	0.25676	-1.0125	10	0.36615	T	0.2	-13.4493	14.2224	0.65836	0.0:0.0:1.0:0.0	.	226;226	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	D	226;226;7	ENSP00000360323:A226D;ENSP00000360321:A226D	ENSP00000360321:A226D	A	-	2	0	TTC22	55026034	0.995000	0.38212	0.988000	0.46212	0.232000	0.25224	2.679000	0.46909	2.328000	0.79073	0.462000	0.41574	GCC	TTC22	-	NULL	ENSG00000006555		0.662	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	HGNC	protein_coding	OTTHUMT00000027438.1	-	0	105	0	G	NM_017904		55253446	-1	tier1	-	no_errors	ENST00000371276	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.986	T	T	55253446	G	T	55253446	3	4	21	1	0	0	0	0	1	0	0	0	16738	1203	42	3	1155	3	TTC22	1	55253446	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2100037	55253446	193997175	10	5397											
USP1	7398	genome.wustl.edu	37	chr1	62907260	62907260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatctcggcaatacttgctAtcttaatagtatacttcagg	12	15	6	8	1	3	0	1	0	2	0	4	0	3	0	0	2	3	3	0	2	8	9			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:62907260A>G	ENST00000339950.4	+	3	1087	c.272A>G	c.(271-273)tAt>tGt	p.Y91C	USP1_ENST00000371146.1_Missense_Mutation_p.Y91C	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	91	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AATACTTGCTATCTTAATAGT	0.343																																					Ovarian(122;1846 2315 3982 19504)												0													108	110	109					1																	62907260		2203	4300	6503	SO:0001583	missense	0				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.272A>G	1.37:g.62907260A>G	ENSP00000343526:p.Tyr91Cys		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.Y91C	ENST00000339950.4	37	c.272	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954026	0.73902	.	.	ENSG00000162607	ENST00000452143;ENST00000371146;ENST00000339950	T;D;D	0.87103	0.48;-2.21;-2.21	5.34	4.18	0.49190	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.91965	0.7455	M	0.67397	2.05	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	D	0.92291	0.5841	10	0.87932	D	0	-13.0884	12.8377	0.57782	0.8634:0.1366:0.0:0.0	.	91	O94782	UBP1_HUMAN	C	91	ENSP00000403662:Y91C;ENSP00000360188:Y91C;ENSP00000343526:Y91C	ENSP00000343526:Y91C	Y	+	2	0	USP1	62679848	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.653000	0.91088	1.078000	0.41014	0.528000	0.53228	TAT	USP1	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000162607		0.343	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	-	0	27	0	A	NM_001017415		62907260	1	tier1	-	no_errors	ENST00000339950	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	G	G	62907260	A	G	62907260	3	3	21	1	0	0	0	0	1	0	0	0	17089	449	16	4	278	4	USP1	1	62907260	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	7653814	62907260	186343361	11	5398											
DNAJC6	9829	genome.wustl.edu	37	chr1	65878634	65878634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaccctatgaacaatacGcaaagatgattttcatggag	15	9	9	8	1	1	3	1	2	0	1	1	4	1	4	1	2	3	2	1	2	6	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:65878634G>T	ENST00000395325.3	+	19	2825	c.2668G>T	c.(2668-2670)Gca>Tca	p.A890S	RNU2-15P_ENST00000410692.1_RNA|DNAJC6_ENST00000371069.4_Missense_Mutation_p.A947S|DNAJC6_ENST00000263441.7_Missense_Mutation_p.A877S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	890	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TGAACAATACGCAAAGATGAT	0.368																																																	0													167	171	170					1																	65878634		2203	4300	6503	SO:0001583	missense	0			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2668G>T	1.37:g.65878634G>T	ENSP00000378735:p.Ala890Ser		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.A947S	ENST00000395325.3	37	c.2839	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475318	0.84640	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	T;T;T	0.34472	1.36;1.36;1.36	5.76	5.76	0.90799	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63088	-0.6715	10	0.87932	D	0	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	947;890	O75061-2;O75061	.;AUXI_HUMAN	S	877;890;947	ENSP00000263441:A877S;ENSP00000378735:A890S;ENSP00000360108:A947S	ENSP00000263441:A877S	A	+	1	0	DNAJC6	65651222	1.000000	0.71417	0.987000	0.45799	0.359000	0.29487	9.416000	0.97383	2.871000	0.98454	0.655000	0.94253	GCA	DNAJC6	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	ENSG00000116675		0.368	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	-	0	60	0	G			65878634	1	tier1	-	no_errors	ENST00000371069	ensembl	human	known	74_37	missense	7.58	60	5	SNP	1.000	T	T	65878634	G	T	65878634	3	4	21	1	0	0	0	0	1	0	0	0	4667	1087	38	2	2742	2	DNAJC6	1	65878634	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2971374	65878634	183371987	12	5399											
C1orf173	127254	genome.wustl.edu	37	chr1	75112384	75112384	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actttatgaaaaattgcctgGgctaagcattcccggatata	13	12	8	8	1	0	1	0	1	0	0	1	2	1	2	2	2	2	2	2	2	6	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:75112384G>T	ENST00000326665.5	-	3	428	c.210C>A	c.(208-210)gcC>gcA	p.A70A		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		70										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAATTGCCTGGGCTAAGCATT	0.299																																																	0													34	31	32					1																	75112384		2036	3904	5940	SO:0001819	synonymous_variant	0																														ENST00000326665.5:c.210C>A	1.37:g.75112384G>T			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.A70	ENST00000326665.5	37	c.210	CCDS30755.1	1																																																																																			C1orf173	-	NULL	ENSG00000178965		0.299	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1		0	32	0	G			75112384	-1			no_errors	ENST00000326665	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.907	T	T	75112384	G	T	75112384	2	4	21	1	0	0	0	0	0	0	0	1	2021	1219	43	3		3	C1orf173	1	75112384	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9233750	75112384	174138237	13	5400											
USP33	23032	genome.wustl.edu	37	chr1	78177527	78177527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacagatggttgacagctgGtcctccaccatacctaaagc	11	9	9	12	0	0	2	0	1	0	1	2	2	2	2	4	2	4	3	4	2	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:78177527G>T	ENST00000370793.1	-	22	2750	c.2404C>A	c.(2404-2406)Cca>Aca	p.P802T	USP33_ENST00000370794.3_Missense_Mutation_p.P771T|USP33_ENST00000370792.3_Missense_Mutation_p.P794T|USP33_ENST00000357428.1_Missense_Mutation_p.P802T	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	802	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTGACAGCTGGTCCTCCACCA	0.328																																					Melanoma(152;72 1870 11110 26780 42647)												0													36	38	37					1																	78177527		2203	4300	6503	SO:0001583	missense	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2404C>A	1.37:g.78177527G>T	ENSP00000359829:p.Pro802Thr		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.P802T	ENST00000370793.1	37	c.2404	CCDS678.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.624942|4.624942	0.87560|0.87560	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.26957	.|1.76;1.7;1.7;1.79	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54854|0.54854	0.1884|0.1884	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;D;D;D	.|0.74674	.|0.984;0.976;0.963;0.973	T|T	0.64605|0.64605	-0.6368|-0.6368	5|10	.|0.87932	.|D	.|0	.|.	19.4888|19.4888	0.95042|0.95042	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|794;771;802;136	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.|.;.;UBP33_HUMAN;.	E|T	406|771;802;802;794	.|ENSP00000359830:P771T;ENSP00000359829:P802T;ENSP00000350009:P802T;ENSP00000359828:P794T	.|ENSP00000350009:P802T	D|P	-|-	3|1	2|0	USP33|USP33	77950115|77950115	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.336000|9.336000	0.96533|0.96533	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAC|CCA	USP33	-	smart_Pept_C19_DUSP	ENSG00000077254		0.328	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	-	0	40	0	G	NM_015017		78177527	-1	tier1	-	no_errors	ENST00000357428	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	78177527	G	T	78177527	3	4	21	1	0	0	0	0	1	0	0	0	17113	1261	44	3	452	3	USP33	1	78177527	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3065143	78177527	171073094	14	5401											
DNAJB4	11080	genome.wustl.edu	37	chr1	78470892	78470892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagccctcaaatttcatcCggacaagaacaaatctcctc	15	8	4	14	1	3	1	2	0	1	1	6	2	4	2	3	1	2	0	3	1	5	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:78470892C>A	ENST00000370763.5	+	1	355	c.98C>A	c.(97-99)cCg>cAg	p.P33Q	RP11-386I14.4_ENST00000608684.1_RNA|DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	33	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AAATTTCATCCGGACAAGAAC	0.368																																																	0													70	78	75					1																	78470892		2202	4300	6502	SO:0001583	missense	0			U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"Heat shock proteins / DNAJ (HSP40)"	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.98C>A	1.37:g.78470892C>A	ENSP00000359799:p.Pro33Gln		B2R824|Q13431	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.P33Q	ENST00000370763.5	37	c.98	CCDS684.1	1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464242	0.63513	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	D;D	0.89875	-2.58;-2.58	5.83	3.98	0.46160	Heat shock protein DnaJ, N-terminal (5);	0.050056	0.85682	D	0.000000	D	0.96414	0.8830	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96875	0.9642	10	0.87932	D	0	.	12.5148	0.56026	0.0:0.8648:0.0:0.1352	.	33	Q9UDY4	DNJB4_HUMAN	Q	33	ENSP00000399494:P33Q;ENSP00000359799:P33Q	ENSP00000359799:P33Q	P	+	2	0	DNAJB4	78243480	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	7.487000	0.81328	0.811000	0.34303	-0.145000	0.13849	CCG	DNAJB4	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	ENSG00000162616		0.368	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB4	HGNC	protein_coding	OTTHUMT00000098248.3		0	40	0	C			78470892	1			no_errors	ENST00000370763	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.997	A	A	78470892	C	A	78470892	3	1	21	1	0	0	0	0	1	0	0	0	4636	652	23	2	100	2	DNAJB4	1	78470892	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	293365	78470892	170779729	15	5402											
COL24A1	255631	genome.wustl.edu	37	chr1	86497581	86497581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctaagcccaggaaaccccgGaggaccagtgccacctacaa	13	4	9	15	1	1	0	0	0	1	0	1	3	1	3	6	3	4	0	6	3	4	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:86497581G>T	ENST00000370571.2	-	14	2395	c.2029C>A	c.(2029-2031)Ccg>Acg	p.P677T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P677T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	677	Collagen-like 3.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P677T(1)|p.P676fs*5(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGAAACCCCGGAGGACCAGTG	0.328																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)											85	88	87					1																	86497581		1830	4068	5898	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2029C>A	1.37:g.86497581G>T	ENSP00000359603:p.Pro677Thr		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P677T	ENST00000370571.2	37	c.2029	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486655	0.26686	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94046	-3.34;-3.34	5.87	5.87	0.94306	.	0.000000	0.38058	N	0.001833	D	0.85999	0.5828	L	0.45352	1.415	0.38745	D	0.953975	B	0.10296	0.003	B	0.18263	0.021	T	0.80171	-0.1493	10	0.31617	T	0.26	.	13.4103	0.60938	0.0723:0.0:0.9277:0.0	.	677	Q17RW2	COOA1_HUMAN	T	677	ENSP00000359603:P677T;ENSP00000392531:P677T	ENSP00000359603:P677T	P	-	1	0	COL24A1	86270169	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.264000	0.51553	2.941000	0.99782	0.655000	0.94253	CCG	COL24A1	-	NULL	ENSG00000171502		0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	-	0	56	0	G	NM_152890		86497581	-1	tier1	-	no_errors	ENST00000370571	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	86497581	G	T	86497581	3	4	21	1	0	0	0	0	1	0	0	0	3690	1174	41	3	3303	3	COL24A1	1	86497581	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8026689	86497581	162753040	16	5403											
TGFBR3	7049	genome.wustl.edu	37	chr1	92193264	92193264	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagatttgatcacccagttGacagactttttgcacttcaa	13	13	6	9	0	2	4	2	2	0	2	2	4	2	4	1	0	1	2	1	0	2	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:92193264G>C	ENST00000525962.1	-	6	898	c.837C>G	c.(835-837)gtC>gtG	p.V279V	TGFBR3_ENST00000370399.2_Silent_p.V279V|TGFBR3_ENST00000212355.4_Silent_p.V279V|TGFBR3_ENST00000468996.2_5'Flank			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	279					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCACCCAGTTGACAGACTTTT	0.353																																																	0													101	96	97					1																	92193264		2203	4300	6503	SO:0001819	synonymous_variant	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.837C>G	1.37:g.92193264G>C			A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Silent	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.V279	ENST00000525962.1	37	c.837	CCDS30770.1	1																																																																																			TGFBR3	-	NULL	ENSG00000069702		0.353	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	-	0	37	0	G	NM_003243		92193264	-1	tier1	-	no_errors	ENST00000212355	ensembl	human	known	74_37	silent	17.14	29	6	SNP	1.000	C	C	92193264	G	C	92193264	2	2	21	1	0	0	0	0	0	0	0	1	15870	1277	45	5		5	TGFBR3	1	92193264	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5695683	92193264	157057357	17	5404											
TGFBR3	7049	genome.wustl.edu	37	chr1	92224237	92224237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccacaccagggggtgtgggGagttgagcaggaacacaaca	12	4	16	9	0	0	1	0	1	0	0	0	3	0	3	2	5	3	2	2	5	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:92224237G>A	ENST00000525962.1	-	3	378	c.317C>T	c.(316-318)tCc>tTc	p.S106F	TGFBR3_ENST00000370399.2_Missense_Mutation_p.S106F|TGFBR3_ENST00000212355.4_Missense_Mutation_p.S106F|TGFBR3_ENST00000468996.2_5'UTR			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	106					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GGGGTGTGGGGAGTTGAGCAG	0.512																																																	0													152	138	142					1																	92224237		2203	4300	6503	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.317C>T	1.37:g.92224237G>A	ENSP00000436127:p.Ser106Phe		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.S106F	ENST00000525962.1	37	c.317	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888966	0.72524	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.5	4.57	0.56435	.	0.052412	0.85682	D	0.000000	T	0.59569	0.2203	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66720	-0.5852	10	0.72032	D	0.01	-17.2147	16.1698	0.81801	0.0:0.1336:0.8664:0.0	.	106;106	Q03167-2;Q03167	.;TGBR3_HUMAN	F	106	ENSP00000212355:S106F;ENSP00000359426:S106F;ENSP00000436127:S106F;ENSP00000432638:S106F	ENSP00000212355:S106F	S	-	2	0	TGFBR3	91996825	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	7.543000	0.82106	1.290000	0.44636	0.561000	0.74099	TCC	TGFBR3	-	NULL	ENSG00000069702		0.512	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	-	0	65	0	G	NM_003243		92224237	-1	tier1	-	no_errors	ENST00000212355	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	A	A	92224237	G	A	92224237	3	1	21	1	0	0	0	0	1	0	0	0	15870	1174	41	3	2294	3	TGFBR3	1	92224237	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	30973	92224237	157026384	18	5405											
CCDC76	54482	genome.wustl.edu	37	chr1	100609662	100609662	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaagaaaaactacctgtGgtaggaattggaaagcatct	17	8	11	5	0	1	2	0	0	1	2	1	5	1	4	1	3	3	2	1	3	7	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:100609662G>T	ENST00000370141.2	+	9	786	c.780G>T	c.(778-780)gtG>gtT	p.V260V	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	260					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AACTACCTGTGGTAGGAATTG	0.373																																																	0													96	93	94					1																	100609662		2203	4300	6503	SO:0001819	synonymous_variant	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.780G>T	1.37:g.100609662G>T			Q5VVL0|Q9NW65	Silent	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.V260	ENST00000370141.2	37	c.780	CCDS765.1	1																																																																																			TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.373	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1	-	0	85	0	G	NM_019083		100609662	1	tier1	-	no_errors	ENST00000370141	ensembl	human	known	74_37	silent	6.25	75	5	SNP	0.966	T	T	100609662	G	T	100609662	2	4	21	1	0	0	0	0	0	0	0	1	2857	1335	47	3		3	CCDC76	1	100609662	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8385425	100609662	148640959	19	5406											
MOV10	4343	genome.wustl.edu	37	chr1	113235508	113235508	+	Frame_Shift_Del	DEL	C	C	-																															cctggagtcggtgcccatgaCctgggaccctgtggaccaga																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:113235508delC	ENST00000413052.2	+	7	1487	c.1097delC	c.(1096-1098)accfs	p.T366fs	MOV10_ENST00000357443.2_Frame_Shift_Del_p.T366fs|MOV10_ENST00000369645.1_Frame_Shift_Del_p.T366fs|MOV10_ENST00000369644.1_Frame_Shift_Del_p.T310fs|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	366					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GTGCCCATGACCTGGGACCCT	0.602																																																	0													39	33	35					1																	113235508		2203	4300	6503	SO:0001589	frameshift_variant	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1097delC	1.37:g.113235508delC	ENSP00000399797:p.Thr366fs		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase	p.W367fs	ENST00000413052.2	37	c.1097	CCDS853.1	1																																																																																			MOV10	-	NULL	ENSG00000155363		0.602	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1		0	38	0	C	NM_020963		113235508	1	tier1		no_errors	ENST00000357443	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.997	-	-	113235508	C	-	113235508	7	5	21	1	0	1	0	1	0	0	0	0	9756	507	18	0	1119	0	MOV10	1	113235508	Frame_Shift_Del	DEL	C	TCGA-IG-A4P3-01A-11D-A27G-09	12625846	113235508	136015113	20	5407											
MAGI3	260425	genome.wustl.edu	37	chr1	114184884	114184884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccatggcatcgtcaggcaGctcccagcctgaactagtga	10	8	10	13	1	1	2	1	2	0	0	4	2	3	2	3	2	3	3	3	2	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:114184884G>T	ENST00000307546.9	+	10	1787	c.1712G>T	c.(1711-1713)aGc>aTc	p.S571I	MAGI3_ENST00000369617.4_Missense_Mutation_p.S596I|MAGI3_ENST00000369615.1_Missense_Mutation_p.S571I|MAGI3_ENST00000369611.4_Missense_Mutation_p.S571I	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	596					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGTCAGGCAGCTCCCAGCCT	0.488																																																	0													113	115	114					1																	114184884		2203	4300	6503	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1712G>T	1.37:g.114184884G>T	ENSP00000304604:p.Ser571Ile		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.S571I	ENST00000307546.9	37	c.1712	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771744	0.49680	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.48	5.48	0.80851	.	0.249134	0.49305	D	0.000151	T	0.24851	0.0603	L	0.36672	1.1	0.42463	D	0.992791	P;B;B	0.43519	0.809;0.05;0.118	B;B;B	0.41332	0.354;0.037;0.109	T	0.11179	-1.0598	10	0.87932	D	0	-4.4162	12.9993	0.58666	0.0742:0.0:0.9258:0.0	.	571;571;596	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	I	596;571;571;571	ENSP00000358630:S596I;ENSP00000304604:S571I;ENSP00000358628:S571I;ENSP00000358624:S571I	ENSP00000304604:S571I	S	+	2	0	MAGI3	113986407	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.299000	0.43611	2.731000	0.93534	0.650000	0.86243	AGC	MAGI3	-	superfamily_PDZ	ENSG00000081026		0.488	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1		0	88	0	G	NM_152900		114184884	1			no_errors	ENST00000369611	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	114184884	G	T	114184884	3	4	21	1	0	0	0	0	1	0	0	0	9230	971	34	3	1750	3	MAGI3	1	114184884	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	949376	114184884	135065737	21	5408											
WDR3	10885	genome.wustl.edu	37	chr1	118477290	118477290	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcagctaggaggcagactGgcatctgggtccaaggtgag	10	7	16	8	0	2	2	1	1	1	1	3	4	3	3	1	5	1	3	1	5	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:118477290G>T	ENST00000349139.5	+	3	413	c.366G>T	c.(364-366)ctG>ctT	p.L122L	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	122						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GAGGCAGACTGGCATCTGGGT	0.453																																																	0													88	81	83					1																	118477290		2203	4300	6503	SO:0001819	synonymous_variant	0			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"WD repeat domain containing"	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.366G>T	1.37:g.118477290G>T				Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L122	ENST00000349139.5	37	c.366	CCDS898.1	1																																																																																			WDR3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000065183		0.453	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	-	0	36	0	G	NM_006784		118477290	1	tier1	-	no_errors	ENST00000349139	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.997	T	T	118477290	G	T	118477290	2	4	21	1	0	0	0	0	0	0	0	1	17334	1335	47	3		3	WDR3	1	118477290	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4292406	118477290	130773331	22	5409											
RBM8A	9939	genome.wustl.edu	37	chr1	145508235	145508235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagcgcggatgcgtgaGgattatgacagcgtggagca	9	7	16	9	5	0	2	0	2	0	0	1	6	1	5	1	3	4	1	1	3	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:145508235G>T	ENST00000330165.8	+	3	225	c.156G>T	c.(154-156)gaG>gaT	p.E52D	GNRHR2_ENST00000312753.5_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.E51D|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	52					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGCGTGAGGATTATGACA	0.527											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													106	106	106					1																	145508235		2203	4300	6503	SO:0001583	missense	0			AF127761	CCDS72872.1	1q21.1	2013-02-12			ENSG00000131795			"RNA binding motif (RRM) containing"	9905	protein-coding gene	gene with protein product		605313		RBM8		11004516, 11013075	Standard	NM_005105		Approved	ZNRP, BOV-1A, BOV-1B, BOV-1C, RBM8B, Y14	uc001ent.2	Q9Y5S9	OTTHUMG00000013736	ENST00000330165.8:c.156G>T	1.37:g.145508235G>T	ENSP00000333001:p.Glu52Asp	1695	B3KQI9|Q6FHD1|Q6IQ40|Q9GZX8|Q9NZI4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom,prints_RNA-bd_8	p.E52D	ENST00000330165.8	37	c.156	CCDS916.1	1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635075	0.47049	.	.	ENSG00000131795	ENST00000330165;ENST00000369307	T;T	0.14516	2.55;2.5	5.3	-0.884	0.10597	.	0.051039	0.85682	D	0.000000	T	0.02571	0.0078	L	0.29908	0.895	0.48087	D	0.999587	B;B	0.15141	0.012;0.007	B;B	0.13407	0.009;0.004	T	0.39396	-0.9616	10	0.12766	T	0.61	-14.4254	9.6448	0.39861	0.5923:0.0:0.4077:0.0	.	51;52	Q9Y5S9-2;Q9Y5S9	.;RBM8A_HUMAN	D	52;51	ENSP00000333001:E52D;ENSP00000358313:E51D	ENSP00000333001:E52D	E	+	3	2	RBM8A	144219592	1.000000	0.71417	0.979000	0.43373	0.993000	0.82548	0.929000	0.28844	-0.188000	0.10499	-0.300000	0.09419	GAG	RBM8A	-	NULL	ENSG00000131795		0.527	RBM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM8A	HGNC	protein_coding	OTTHUMT00000038503.2	-	0	36	0	G	NM_005105		145508235	1	tier1	-	no_errors	ENST00000330165	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.998	T	T	145508235	G	T	145508235	3	4	21	1	0	0	0	0	1	0	0	0	13191	991	35	3	166	3	RBM8A	1	145508235	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	27030945	145508235	103742386	23	5410											
PRKAB2	5565	genome.wustl.edu	37	chr1	146634077	146634077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggaggaaggatgggtGgggatttgaatctttcctca	10	11	16	4	0	2	2	1	2	1	0	3	7	3	6	1	6	0	0	1	6	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:146634077G>T	ENST00000254101.3	-	6	752	c.614C>A	c.(613-615)cCa>cAa	p.P205Q	PRKAB2_ENST00000425272.2_Missense_Mutation_p.P123Q|PRKAB2_ENST00000496858.1_5'UTR	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	205					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	AAGGATGGGTGGGGATTTGAA	0.418																																																	0													106	104	105					1																	146634077		2203	4300	6503	SO:0001583	missense	0			BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"AMPK beta 2"	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.614C>A	1.37:g.146634077G>T	ENSP00000254101:p.Pro205Gln		A8K9V5|B4DH06|Q5VXY0	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.P205Q	ENST00000254101.3	37	c.614	CCDS925.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944915	0.92593	.	.	ENSG00000131791	ENST00000254101;ENST00000425272	.	.	.	5.74	5.74	0.90152	5-AMP-activated protein kinase, beta subunit, interaction domain (1);	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90167	0.4232	9	0.87932	D	0	.	17.4083	0.87479	0.0:0.0:1.0:0.0	.	123;205	B4DH06;O43741	.;AAKB2_HUMAN	Q	205;123	.	ENSP00000254101:P205Q	P	-	2	0	PRKAB2	145100701	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	CCA	PRKAB2	-	pfam_AMP_prot_kin_bsu_interact-dom	ENSG00000131791		0.418	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB2	HGNC	protein_coding	OTTHUMT00000039471.1		0	28	0	G	NM_005399		146634077	-1			no_errors	ENST00000254101	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	146634077	G	T	146634077	3	4	21	1	0	0	0	0	1	0	0	0	12538	1348	47	3	216	3	PRKAB2	1	146634077	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1125842	146634077	102616544	24	5411											
BCL9	607	genome.wustl.edu	37	chr1	147086253	147086253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctgctgaccacataaagtCccaggattcccagcacacac	12	8	6	15	0	1	1	0	1	1	0	3	2	3	2	3	1	2	2	3	1	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:147086253C>T	ENST00000234739.3	+	6	1138	c.398C>T	c.(397-399)tCc>tTc	p.S133F	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	133					canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACATAAAGTCCCAGGATTCC	0.458			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													108	110	110					1																	147086253		2203	4300	6503	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.398C>T	1.37:g.147086253C>T	ENSP00000234739:p.Ser133Phe		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.S133F	ENST00000234739.3	37	c.398	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721946	0.68959	.	.	ENSG00000116128	ENST00000234739	T	0.57907	0.37	5.55	5.55	0.83447	.	0.414560	0.29293	N	0.012569	T	0.37972	0.1023	L	0.34521	1.04	0.45837	D	0.998706	B;B	0.22480	0.07;0.07	B;B	0.31016	0.123;0.123	T	0.26292	-1.0107	10	0.59425	D	0.04	-3.0457	19.6982	0.96039	0.0:1.0:0.0:0.0	.	133;133	Q1JQ81;O00512	.;BCL9_HUMAN	F	133	ENSP00000234739:S133F	ENSP00000234739:S133F	S	+	2	0	BCL9	145552877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.027000	0.57239	2.894000	0.99253	0.655000	0.94253	TCC	BCL9	-	NULL	ENSG00000116128		0.458	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	0	59	0	C	NM_004326		147086253	1	tier1	-	no_errors	ENST00000234739	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	T	T	147086253	C	T	147086253	3	4	21	1	0	0	0	0	1	0	0	0	1382	855	30	3	408	3	BCL9	1	147086253	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	452176	147086253	102164368	25	5412											
VPS72	6944	genome.wustl.edu	37	chr1	151158058	151158058	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgagagctaccagccggGgtgttgacctttcgaggcct	6	11	13	11	2	1	2	0	2	1	1	2	4	1	2	4	3	3	2	4	3	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:151158058G>T	ENST00000354473.4	-	3	345	c.309C>A	c.(307-309)acC>acA	p.T103T	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	103					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TACCAGCCGGGGTGTTGACCT	0.493																																					Pancreas(109;1131 2287 3209 24201)												0													185	184	184					1																	151158058		2203	4300	6503	SO:0001819	synonymous_variant	0			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.309C>A	1.37:g.151158058G>T			A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Silent	SNP	pfam_YL1,pfam_YL1_C	p.T103	ENST00000354473.4	37	c.309	CCDS59201.1	1																																																																																			VPS72	-	pfam_YL1	ENSG00000163159		0.493	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	-	0	42	0	G	NM_005997		151158058	-1	tier1	-	no_errors	ENST00000368892	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.999	T	T	151158058	G	T	151158058	2	4	21	1	0	0	0	0	0	0	0	1	17266	1219	43	3		3	VPS72	1	151158058	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4071805	151158058	98092563	26	5413											
KCNN3	3782	genome.wustl.edu	37	chr1	154794625	154794625	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatggtggacagactGataaggcatttcagggccaa	13	8	14	6	0	1	3	1	2	0	1	1	5	1	5	1	5	0	1	1	5	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:154794625G>T	ENST00000271915.4	-	2	1284	c.969C>A	c.(967-969)atC>atA	p.I323I	KCNN3_ENST00000358505.2_Silent_p.I10I|KCNN3_ENST00000361147.4_Silent_p.I18I	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	328					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGGACAGACTGATAAGGCATT	0.532																																																	0													157	126	137					1																	154794625		2203	4300	6503	SO:0001819	synonymous_variant	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.969C>A	1.37:g.154794625G>T			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.I323	ENST00000271915.4	37	c.969	CCDS30880.1	1																																																																																			KCNN3	-	pfam_K_chnl_Ca-activ_SK	ENSG00000143603		0.532	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	-	0	42	0	G	NM_002249		154794625	-1	tier1	-	no_errors	ENST00000271915	ensembl	human	novel	74_37	silent	6.15	61	4	SNP	1.000	T	T	154794625	G	T	154794625	2	4	21	1	0	0	0	0	0	0	0	1	8107	1280	45	3		3	KCNN3	1	154794625	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3636567	154794625	94455996	27	5414											
FCRL3	115352	genome.wustl.edu	37	chr1	157660306	157660306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccctgagggtgaggaCggggcgagacaccggaactg	9	3	20	9	3	0	3	0	2	0	1	0	7	0	6	2	6	2	0	2	6	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:157660306C>T	ENST00000368184.3	-	9	1720	c.1429G>A	c.(1429-1431)Gtc>Atc	p.V477I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.V477I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	477	Ig-like C2-type 6.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGGGTGAGGACGGGGCGAGAC	0.532																																																	0													39	43	41					1																	157660306		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1429G>A	1.37:g.157660306C>T	ENSP00000357167:p.Val477Ile		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V483I	ENST00000368184.3	37	c.1447	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	.	1.293	-0.607156	0.03717	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03496	3.91;3.91	4.47	-2.61	0.06171	Immunoglobulin-like (1);	0.419149	0.16957	N	0.192663	T	0.01421	0.0046	L	0.45285	1.41	0.09310	N	1	B;B;B	0.31125	0.309;0.029;0.263	B;B;B	0.41374	0.355;0.022;0.102	T	0.43798	-0.9369	10	0.27785	T	0.31	.	6.9603	0.24593	0.0:0.6024:0.2526:0.145	.	477;382;477	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	I	477	ENSP00000357169:V477I;ENSP00000357167:V477I	ENSP00000292392:V477I	V	-	1	0	FCRL3	155926930	0.065000	0.20965	0.010000	0.14722	0.002000	0.02628	-0.713000	0.05007	-0.594000	0.05836	-2.048000	0.00412	GTC	FCRL3	-	pfscan_Ig-like_dom	ENSG00000160856		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2		0	29	0	C	NM_052939		157660306	-1			no_errors	ENST00000492769	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.004	T	T	157660306	C	T	157660306	3	4	21	1	0	0	0	0	1	0	0	0	5818	536	19	1	803	1	FCRL3	1	157660306	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	2865681	157660306	91590315	28	5415											
OR10X1	128367	genome.wustl.edu	37	chr1	158549211	158549211	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgcaagcagaggccacaAgttgtccacatacaatgttg	13	8	10	10	0	0	1	0	0	0	1	1	1	1	1	2	1	3	4	2	1	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:158549211A>T	ENST00000368150.1	-	1	478	c.479T>A	c.(478-480)cTt>cAt	p.L160H		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAGGCCACAAGTTGTCCACA	0.453																																																	0													58	59	59					1																	158549211		2203	4300	6503	SO:0001583	missense	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.479T>A	1.37:g.158549211A>T	ENSP00000357132:p.Leu160His		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L160H	ENST00000368150.1	37	c.479	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310360	0.23821	.	.	ENSG00000186400	ENST00000368150	T	0.45668	0.89	5.0	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.207901	0.23079	N	0.052169	T	0.41627	0.1167	H	0.98111	4.15	0.09310	N	1	B	0.23650	0.089	B	0.28232	0.087	T	0.52697	-0.8541	10	0.87932	D	0	.	7.6614	0.28404	0.7164:0.145:0.0:0.1386	.	160	Q8NGY0	O10X1_HUMAN	H	160	ENSP00000357132:L160H	ENSP00000357132:L160H	L	-	2	0	OR10X1	156815835	0.002000	0.14202	0.100000	0.21137	0.695000	0.40330	1.646000	0.37249	0.333000	0.23563	0.455000	0.32223	CTT	OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186400		0.453	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0	37	0	A	NM_001004477		158549211	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.020	T	T	158549211	A	T	158549211	3	4	21	1	0	0	0	0	1	0	0	0	10961	72	3	5	496	5	OR10X1	1	158549211	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	888905	158549211	90701410	29	5416											
SPTA1	6708	genome.wustl.edu	37	chr1	158581100	158581100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaacgtagtcatagccaGagagatggcttcgaccccgt	11	7	11	12	3	1	2	1	0	0	2	2	4	1	2	4	1	3	2	4	1	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:158581100G>T	ENST00000368147.4	-	52	7394	c.7214C>A	c.(7213-7215)tCt>tAt	p.S2405Y	SPTA1_ENST00000485680.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2405				GRSHLSGYDYVGFTNSYFGN -> VEAISLAMTTLASPIPT LATNKQLLVDRRKS (in Ref. 1; AAA60577/ AAA60994). {ECO:0000305}.	actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTCATAGCCAGAGAGATGGCT	0.458																																																	0													84	86	86					1																	158581100		1926	4128	6054	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.7214C>A	1.37:g.158581100G>T	ENSP00000357129:p.Ser2405Tyr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S2405Y	ENST00000368147.4	37	c.7214	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049244	0.36181	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.28255	1.62;1.62	5.58	4.66	0.58398	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.879425	0.09240	N	0.829389	T	0.20047	0.0482	N	0.19112	0.55	0.22511	N	0.999031	P	0.34629	0.46	P	0.47891	0.56	T	0.49762	-0.8905	10	0.62326	D	0.03	.	13.9373	0.64032	0.0:0.0:0.8467:0.1533	.	2405	P02549	SPTA1_HUMAN	Y	2405;2402	ENSP00000357130:S2405Y;ENSP00000357129:S2402Y	ENSP00000357129:S2402Y	S	-	2	0	SPTA1	156847724	0.992000	0.36948	0.423000	0.26634	0.009000	0.06853	4.017000	0.57167	1.474000	0.48178	0.655000	0.94253	TCT	SPTA1	-	pfam_EF-hand_Ca_insen	ENSG00000163554		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	55	0	G	NM_003126		158581100	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.715	T	T	158581100	G	T	158581100	3	4	21	1	0	0	0	0	1	0	0	0	15163	942	33	3	49	3	SPTA1	1	158581100	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	31889	158581100	90669521	30	5417											
POGK	57645	genome.wustl.edu	37	chr1	166818379	166818379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcggctgatgacatagctgGgaagtttcagttcagccggg	8	10	14	9	2	2	2	2	2	0	0	3	3	2	3	1	3	2	4	1	3	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:166818379G>T	ENST00000367875.1	+	5	923	c.563G>T	c.(562-564)gGg>gTg	p.G188V	POGK_ENST00000537173.1_Missense_Mutation_p.G70V|POGK_ENST00000536514.1_Missense_Mutation_p.G103V|POGK_ENST00000367876.4_Missense_Mutation_p.G188V			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	188					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GACATAGCTGGGAAGTTTCAG	0.577																																					GBM(76;192 1530 30153 48742)												0													82	71	75					1																	166818379		2203	4300	6503	SO:0001583	missense	0			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.563G>T	1.37:g.166818379G>T	ENSP00000356849:p.Gly188Val		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G188V	ENST00000367875.1	37	c.563	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352713	0.24512	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.30182	1.55;1.54;4.8;4.79;4.79	5.39	-0.03	0.13916	.	0.478447	0.18081	N	0.152302	T	0.07818	0.0196	N	0.19112	0.55	0.28654	N	0.906513	B;B;B	0.13594	0.004;0.008;0.008	B;B;B	0.14023	0.01;0.004;0.007	T	0.18304	-1.0341	9	0.66056	D	0.02	-16.428	10.5065	0.44836	0.0824:0.6068:0.3108:0.0	.	70;103;188	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	V	70;103;188;188;188	ENSP00000442763:G70V;ENSP00000441187:G103V;ENSP00000404402:G188V;ENSP00000356850:G188V;ENSP00000356849:G188V	ENSP00000356849:G188V	G	+	2	0	POGK	165085003	0.006000	0.16342	0.000000	0.03702	0.995000	0.86356	0.458000	0.21892	-0.145000	0.11294	0.655000	0.94253	GGG	POGK	-	NULL	ENSG00000143157		0.577	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	-	0	39	0	G	NM_017542		166818379	1	tier1	-	no_errors	ENST00000367875	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.000	T	T	166818379	G	T	166818379	3	4	21	1	0	0	0	0	1	0	0	0	12224	1232	43	3	577	3	POGK	1	166818379	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8237279	166818379	82432242	31	5418											
FMO3	2328	genome.wustl.edu	37	chr1	171086431	171086431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcagtggccaggagccaGaaatgccatactgacccagt	12	5	13	11	0	0	2	0	1	0	1	0	3	0	3	4	3	3	1	4	3	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:171086431G>T	ENST00000367755.4	+	9	1559	c.1448G>T	c.(1447-1449)aGa>aTa	p.R483I	FMO3_ENST00000392085.2_Missense_Mutation_p.R483I|FMO3_ENST00000538429.1_Missense_Mutation_p.R420I|FMO3_ENST00000542847.1_Missense_Mutation_p.R463I	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	483					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CCAGGAGCCAGAAATGCCATA	0.532																																																	0													99	91	94					1																	171086431		2203	4300	6503	SO:0001583	missense	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1448G>T	1.37:g.171086431G>T	ENSP00000356729:p.Arg483Ile		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.R483I	ENST00000367755.4	37	c.1448	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516917	0.85495	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.36	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.80914	0.4715	H	0.94925	3.6	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.78314	0.964;0.991;0.991	D	0.86992	0.2111	10	0.87932	D	0	-9.8315	14.7305	0.69377	0.0:0.0:0.8538:0.1462	.	420;463;483	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	I	483;483;463;420	ENSP00000356729:R483I;ENSP00000375935:R483I;ENSP00000444073:R463I;ENSP00000439500:R420I	ENSP00000356729:R483I	R	+	2	0	FMO3	169353055	0.993000	0.37304	0.798000	0.32154	0.996000	0.88848	5.307000	0.65762	1.183000	0.42943	0.655000	0.94253	AGA	FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000007933		0.532	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1		0	49	0	G	NM_006894		171086431	1			no_errors	ENST00000367755	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.974	T	T	171086431	G	T	171086431	3	4	21	1	0	0	0	0	1	0	0	0	5978	942	33	3	1478	3	FMO3	1	171086431	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4268052	171086431	78164190	32	5419											
FMO4	2329	genome.wustl.edu	37	chr1	171303853	171303853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcggccttaaaggatccatCttatcaggcacagagctcca	12	9	8	12	1	2	1	1	0	1	1	5	2	4	2	3	3	1	2	3	3	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:171303853C>G	ENST00000367749.3	+	8	1461	c.1131C>G	c.(1129-1131)atC>atG	p.I377M		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	377					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGGATCCATCTTATCAGGCA	0.438																																					Pancreas(24;816 862 7754 7993 32832)												0													66	66	66					1																	171303853		2203	4300	6503	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1131C>G	1.37:g.171303853C>G	ENSP00000356723:p.Ile377Met		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.I377M	ENST00000367749.3	37	c.1131	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827668	0.32329	.	.	ENSG00000076258	ENST00000367749	T	0.57752	0.38	5.53	3.68	0.42216	.	0.108661	0.64402	D	0.000010	T	0.56108	0.1963	M	0.82132	2.575	0.41159	D	0.986083	P	0.47604	0.898	P	0.61722	0.893	T	0.59888	-0.7369	10	0.52906	T	0.07	-16.0574	5.9123	0.19035	0.136:0.6428:0.0:0.2212	.	377	P31512	FMO4_HUMAN	M	377	ENSP00000356723:I377M	ENSP00000356723:I377M	I	+	3	3	FMO4	169570477	0.924000	0.31332	0.739000	0.30968	0.330000	0.28571	0.124000	0.15728	0.704000	0.31869	0.585000	0.79938	ATC	FMO4	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000076258		0.438	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	-	0	21	0	C	NM_002022		171303853	1	tier1	-	no_errors	ENST00000367749	ensembl	human	known	74_37	missense	41.18	20	14	SNP	0.774	G	G	171303853	C	G	171303853	3	3	21	1	0	0	0	0	1	0	0	0	5979	903	32	5	1153	5	FMO4	1	171303853	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	217422	171303853	77946768	33	5420											
C1orf9	51430	genome.wustl.edu	37	chr1	172558897	172558897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttacagaggacagctacaGatttttatgctgaattgcaa	13	12	10	6	0	0	3	0	1	0	2	0	4	0	4	0	2	5	4	0	2	5	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:172558897G>T	ENST00000263688.3	+	18	2875	c.2656G>T	c.(2656-2658)Gat>Tat	p.D886Y	SUCO_ENST00000367723.4_Missense_Mutation_p.D1037Y|SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Missense_Mutation_p.D1038Y	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	886					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)		p.D1038Y(1)|p.D886Y(1)									GACAGCTACAGATTTTTATGC	0.358																																																	2	Substitution - Missense(2)	large_intestine(2)											90	93	92					1																	172558897		2200	4296	6496	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2656G>T	1.37:g.172558897G>T	ENSP00000263688:p.Asp886Tyr		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.D1038Y	ENST00000263688.3	37	c.3112	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089001	0.76756	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.29	5.29	0.74685	.	0.044149	0.85682	D	0.000000	T	0.74966	0.3786	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78137	-0.2321	9	0.87932	D	0	-21.0784	17.492	0.87707	0.0:0.0:1.0:0.0	.	886;1038;886	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	Y	1038;886	.	ENSP00000263688:D886Y	D	+	1	0	C1orf9	170825520	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.400000	0.97290	2.460000	0.83146	0.655000	0.94253	GAT	SUCO	-	NULL	ENSG00000094975		0.358	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1		0	28	0	G	NM_016227		172558897	1			no_errors	ENST00000608151	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	172558897	G	T	172558897	3	4	21	1	0	0	0	0	1	0	0	0	2074	942	33	3	2726	3	C1orf9	1	172558897	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1255044	172558897	76691724	34	5421											
TDRD5	163589	genome.wustl.edu	37	chr1	179659934	179659934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtagaccagctgtctttGattttgtcttatgagtgcca	7	17	9	8	0	3	3	0	2	3	1	3	3	3	3	2	0	2	2	2	0	2	5	rs371987660		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:179659934G>A	ENST00000367614.1	+	17	3161	c.2802G>A	c.(2800-2802)ttG>ttA	p.L934L	TDRD5_ENST00000294848.8_Silent_p.L934L|TDRD5_ENST00000444136.1_Silent_p.L988L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	934					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGCTGTCTTTGATTTTGTCTT	0.448																																																	0								G	,,,,	0,4406		0,0,2203	75	73	74		2964,2964,2802,1467,2802	0.6	1	1		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_001199092.1,NM_173533.3	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	988/1036,988/1036,934/982,489/537,934/982	179659934	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2802G>A	1.37:g.179659934G>A			A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L988	ENST00000367614.1	37	c.2964	CCDS1332.1	1																																																																																			TDRD5	-	NULL	ENSG00000162782		0.448	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	-	0	30	0	G	NM_173533		179659934	1	tier1	-	no_errors	ENST00000444136	ensembl	human	known	74_37	silent	20.00	36	9	SNP	0.993	A	A	179659934	G	A	179659934	2	1	21	1	0	0	0	0	0	0	0	1	15780	1281	45	3		3	TDRD5	1	179659934	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7101037	179659934	69590687	35	5422											
HMCN1	83872	genome.wustl.edu	37	chr1	186114952	186114952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtggaggaggtgaaaaGactcggaagcggctgtgcga	10	7	17	7	3	0	2	0	1	0	1	2	6	1	5	1	5	2	1	1	5	3	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:186114952G>T	ENST00000271588.4	+	93	14734	c.14505G>T	c.(14503-14505)aaG>aaT	p.K4835N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K4835N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4835	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGGTGAAAAGACTCGGAAGC	0.542																																																	0													76	72	73					1																	186114952		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14505G>T	1.37:g.186114952G>T	ENSP00000271588:p.Lys4835Asn		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.K4835N	ENST00000271588.4	37	c.14505	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775202	0.49786	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.55413	0.52;0.52	5.59	2.29	0.28610	.	0.150496	0.64402	D	0.000014	T	0.48732	0.1516	M	0.73372	2.23	0.29355	N	0.865062	P	0.36354	0.549	B	0.34038	0.174	T	0.54016	-0.8356	10	0.72032	D	0.01	.	10.8422	0.46722	0.2687:0.0:0.7313:0.0	.	4835	Q96RW7	HMCN1_HUMAN	N	4835	ENSP00000271588:K4835N;ENSP00000356462:K4835N	ENSP00000271588:K4835N	K	+	3	2	HMCN1	184381575	1.000000	0.71417	0.991000	0.47740	0.546000	0.35178	4.534000	0.60622	0.703000	0.31848	0.655000	0.94253	AAG	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.542	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	51	0	G	NM_031935		186114952	1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	186114952	G	T	186114952	3	4	21	1	0	0	0	0	1	0	0	0	7247	933	33	3	14875	3	HMCN1	1	186114952	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6455018	186114952	63135669	36	5423											
ASPM	259266	genome.wustl.edu	37	chr1	197071323	197071323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtttcaaagcctgatatCtcatatgtaatctgtgcatt	10	16	6	9	0	3	1	2	1	2	0	4	1	3	1	2	0	2	3	2	0	4	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:197071323C>T	ENST00000367409.4	-	18	7314	c.7058G>A	c.(7057-7059)aGa>aAa	p.R2353K	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2353	IQ 23. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGCCTGATATCTCATATGTAA	0.433																																																	0													135	129	131					1																	197071323		2203	4300	6503	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7058G>A	1.37:g.197071323C>T	ENSP00000356379:p.Arg2353Lys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2353K	ENST00000367409.4	37	c.7058	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	c	3.726	-0.056481	0.07362	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72282	-0.64	4.39	0.382	0.16234	.	0.337744	0.24128	N	0.041281	T	0.68421	0.2999	L	0.42529	1.33	0.09310	N	1	P;P	0.50617	0.694;0.937	P;P	0.62298	0.874;0.9	T	0.57774	-0.7753	10	0.16896	T	0.51	.	5.0271	0.14391	0.0:0.4121:0.2766:0.3113	.	339;2353	E7EQ84;Q8IZT6	.;ASPM_HUMAN	K	2353;339	ENSP00000356379:R2353K	ENSP00000356376:R339K	R	-	2	0	ASPM	195337946	0.000000	0.05858	0.001000	0.08648	0.223000	0.24884	-2.452000	0.01005	0.211000	0.20683	0.558000	0.71614	AGA	ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.433	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0	49	0	C	NM_018136		197071323	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.000	T	T	197071323	C	T	197071323	3	4	21	1	0	0	0	0	1	0	0	0	1057	913	32	3	3419	3	ASPM	1	197071323	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	10956371	197071323	52179298	37	5424											
TIMM17A	10440	genome.wustl.edu	37	chr1	201932800	201932800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgtagtatggttcaaGtcagaggaaaggaagatccc	13	10	12	6	0	2	3	2	1	0	2	3	5	3	5	1	3	0	3	1	3	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:201932800G>T	ENST00000367287.4	+	4	283	c.247G>T	c.(247-249)Gtc>Ttc	p.V83F	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	83					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						TATGGTTCAAGTCAGAGGAAA	0.393																																																	0													95	90	91					1																	201932800		2203	4300	6503	SO:0001583	missense	0			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.247G>T	1.37:g.201932800G>T	ENSP00000356256:p.Val83Phe		B2RDM5|Q9BWF5	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17	p.V83F	ENST00000367287.4	37	c.247	CCDS1417.1	1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.018024	0.35606	.	.	ENSG00000134375	ENST00000367287	T	0.30182	1.54	5.35	3.46	0.39613	.	0.211136	0.49305	D	0.000158	T	0.23210	0.0561	L	0.33339	1.005	0.45648	D	0.998571	B	0.23377	0.084	B	0.32677	0.15	T	0.05209	-1.0899	10	0.27785	T	0.31	-13.5443	7.2394	0.26088	0.2784:0.0:0.7216:0.0	.	83	Q99595	TI17A_HUMAN	F	83	ENSP00000356256:V83F	ENSP00000356256:V83F	V	+	1	0	TIMM17A	200199423	0.994000	0.37717	0.230000	0.23976	0.963000	0.63663	1.745000	0.38278	0.725000	0.32318	0.655000	0.94253	GTC	TIMM17A	-	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17	ENSG00000134375		0.393	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM17A	HGNC	protein_coding	OTTHUMT00000087092.1	-	0	54	0	G	NM_006335		201932800	1	tier1	-	no_errors	ENST00000367287	ensembl	human	known	74_37	missense	9.52	57	6	SNP	0.972	T	T	201932800	G	T	201932800	3	4	21	1	0	0	0	0	1	0	0	0	15955	1029	36	3	261	3	TIMM17A	1	201932800	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4861477	201932800	47317821	38	5425											
USH2A	7399	genome.wustl.edu	37	chr1	216144008	216144008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggccgtgcatgcttggaCtctgaaggaatgtaaactcc	9	12	11	9	1	1	1	0	1	1	0	2	3	2	3	2	3	3	3	2	3	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:216144008C>T	ENST00000307340.3	-	36	7302	c.6916G>A	c.(6916-6918)Gtc>Atc	p.V2306I	USH2A_ENST00000366943.2_Missense_Mutation_p.V2306I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2306	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATGCTTGGACTCTGAAGGAA	0.403										HNSCC(13;0.011)																																							0													102	96	98					1																	216144008		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6916G>A	1.37:g.216144008C>T	ENSP00000305941:p.Val2306Ile		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V2306I	ENST00000307340.3	37	c.6916	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338604	0.41398	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.63096	-0.02;-0.02	5.81	2.85	0.33270	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.39687	N	0.001286	T	0.51483	0.1677	L	0.43701	1.375	0.34555	D	0.711773	B	0.18461	0.028	B	0.12837	0.008	T	0.58434	-0.7637	10	0.51188	T	0.08	.	10.3972	0.44207	0.0:0.5458:0.386:0.0681	.	2306	O75445	USH2A_HUMAN	I	2306	ENSP00000305941:V2306I;ENSP00000355910:V2306I	ENSP00000305941:V2306I	V	-	1	0	USH2A	214210631	0.997000	0.39634	0.936000	0.37596	0.964000	0.63967	1.118000	0.31246	0.756000	0.33013	0.591000	0.81541	GTC	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	58	0	C	NM_007123		216144008	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	41.46	23	17	SNP	0.998	T	T	216144008	C	T	216144008	3	4	21	1	0	0	0	0	1	0	0	0	17085	565	20	3	8840	3	USH2A	1	216144008	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	14211208	216144008	33106613	39	5426											
SPATA17	128153	genome.wustl.edu	37	chr1	217856693	217856693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcgtttcagagaccaatGatgcaattaggtaagtagtg	14	11	11	5	1	1	2	1	1	0	1	2	3	1	2	1	1	1	4	1	1	6	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:217856693G>A	ENST00000366933.4	+	5	440	c.385G>A	c.(385-387)Gat>Aat	p.D129N		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	129						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAGACCAATGATGCAATTAG	0.343																																																	0													90	104	100					1																	217856693		2200	4300	6500	SO:0001583	missense	0			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"IQ motif containing H"	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.385G>A	1.37:g.217856693G>A	ENSP00000355900:p.Asp129Asn		A5D6N2	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.D129N	ENST00000366933.4	37	c.385	CCDS1519.1	1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220358	0.39201	.	.	ENSG00000162814	ENST00000366933	T	0.43688	0.94	5.43	4.46	0.54185	.	0.364852	0.30036	N	0.010575	T	0.31918	0.0812	L	0.35723	1.085	0.33129	D	0.542786	B	0.11235	0.004	B	0.08055	0.003	T	0.34004	-0.9846	10	0.33940	T	0.23	-5.0851	11.2949	0.49272	0.0747:0.14:0.7853:0.0	.	129	Q96L03	SPT17_HUMAN	N	129	ENSP00000355900:D129N	ENSP00000355900:D129N	D	+	1	0	SPATA17	215923316	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.808000	0.62583	2.537000	0.85549	0.555000	0.69702	GAT	SPATA17	-	NULL	ENSG00000162814		0.343	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA17	HGNC	protein_coding	OTTHUMT00000092433.2	-	0	32	0	G	NM_138796		217856693	1	tier1	-	no_errors	ENST00000366933	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A	A	217856693	G	A	217856693	3	1	21	1	0	0	0	0	1	0	0	0	15049	1290	45	3	403	3	SPATA17	1	217856693	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1712685	217856693	31393928	40	5427											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227288919	227288919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctatgctgcatactcctgGtgagtaactaatttgttttt	8	19	7	7	0	1	1	0	1	1	0	2	1	2	1	1	1	4	4	1	1	4	8			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:227288919G>T	ENST00000366769.3	-	15	3314	c.2023C>A	c.(2023-2025)Cca>Aca	p.P675T	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P594T|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P675T|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P675T|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P675T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P675T(2)|p.P594T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATACTCCTGGTGAGTAACTA	0.259																																																	3	Substitution - Missense(3)	endometrium(3)											66	67	66					1																	227288919		2199	4293	6492	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2023C>A	1.37:g.227288919G>T	ENSP00000355731:p.Pro675Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P675T	ENST00000366769.3	37	c.2023	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.254280	0.22965	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.64803	-0.1;-0.1;-0.1;-0.11;-0.12;-0.09;-0.08	5.57	5.57	0.84162	.	0.211271	0.49916	D	0.000132	T	0.59321	0.2185	L	0.55481	1.735	0.42055	D	0.991132	B;B;B;B	0.15473	0.01;0.001;0.004;0.013	B;B;B;B	0.15484	0.007;0.003;0.013;0.008	T	0.55464	-0.8137	10	0.16896	T	0.51	.	19.5667	0.95397	0.0:0.0:1.0:0.0	.	675;675;594;675	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	T	675;594;675;675;675;675;675	ENSP00000355731:P675T;ENSP00000355729:P594T;ENSP00000335341:P675T;ENSP00000355728:P675T;ENSP00000355726:P675T;ENSP00000443275:P675T;ENSP00000355727:P675T	ENSP00000335341:P675T	P	-	1	0	CDC42BPA	225355542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.439000	0.44846	2.604000	0.88044	0.645000	0.84053	CCA	CDC42BPA	-	NULL	ENSG00000143776		0.259	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0	43	0	G	NM_014826		227288919	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	9.76	74	8	SNP	1.000	T	T	227288919	G	T	227288919	3	4	21	1	0	0	0	0	1	0	0	0	3079	1261	44	3	3224	3	CDC42BPA	1	227288919	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9432226	227288919	21961702	41	5428											
LYST	1130	genome.wustl.edu	37	chr1	235897834	235897834	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgcactgggagggatGcacttgtgaccacataactt	10	11	12	8	0	0	2	0	2	0	0	0	4	0	4	1	2	3	3	1	2	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:235897834G>T	ENST00000389794.3	-	32	8658	c.8484C>A	c.(8482-8484)tgC>tgA	p.C2828*	LYST_ENST00000389793.2_Nonsense_Mutation_p.C2828*|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2828					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGGAGGGATGCACTTGTGAC	0.393																																																	0													249	217	228					1																	235897834		2203	4300	6503	SO:0001587	stop_gained	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8484C>A	1.37:g.235897834G>T	ENSP00000374444:p.Cys2828*		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C2828*	ENST00000389794.3	37	c.8484	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	51	17.505381	0.99888	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.06	5.06	0.68205	.	0.044849	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1052	0.36694	0.2081:0.0:0.7919:0.0	.	.	.	.	X	2828	.	ENSP00000374443:C2828X	C	-	3	2	LYST	233964457	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	2.364000	0.44187	2.496000	0.84212	0.591000	0.81541	TGC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	61	0	G			235897834	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	nonsense	7.32	76	6	SNP	1.000	T	T	235897834	G	T	235897834	4	4	21	1	0	0	0	0	0	1	0	0	9164	1311	46	3	3009	3	LYST	1	235897834	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8608915	235897834	13352787	42	5429											
PLD5	200150	genome.wustl.edu	37	chr1	242271125	242271125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcttatttttgcatccaAgtctggccagtaagtcctgc	7	16	7	11	0	2	0	0	0	2	0	5	0	4	0	3	1	2	2	3	1	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:242271125A>G	ENST00000536534.2	-	8	1328	c.1087T>C	c.(1087-1089)Ttg>Ctg	p.L363L	PLD5_ENST00000442594.2_Silent_p.L271L|PLD5_ENST00000427495.1_Silent_p.L301L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	363						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTTGCATCCAAGTCTGGCCAG	0.343																																																	0													69	70	70					1																	242271125		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1087T>C	1.37:g.242271125A>G			A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	smart_PLipase_D/transphosphatidylase	p.L363	ENST00000536534.2	37	c.1087	CCDS1621.2	1																																																																																			PLD5	-	NULL	ENSG00000180287		0.343	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0	38	0	A	NM_152666		242271125	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.998	G	G	242271125	A	G	242271125	2	3	21	1	0	0	0	0	0	0	0	1	12088	69	3	4		4	PLD5	1	242271125	Silent	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	6373291	242271125	6979496	43	5430											
KIF26B	55083	genome.wustl.edu	37	chr1	245850119	245850119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagcagacgctcttccatCagctcctggctgagcgagat	8	8	13	12	2	2	3	1	1	1	2	4	5	4	4	2	2	3	4	2	2	0	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:245850119C>G	ENST00000407071.2	+	12	4274	c.3834C>G	c.(3832-3834)atC>atG	p.I1278M	KIF26B_ENST00000366518.4_Missense_Mutation_p.I897M	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1278					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCTTCCATCAGCTCCTGGC	0.627																																																	0													34	40	38					1																	245850119		2142	4237	6379	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3834C>G	1.37:g.245850119C>G	ENSP00000385545:p.Ile1278Met		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1278M	ENST00000407071.2	37	c.3834	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317176	0.40996	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.84442	-1.85;-1.85	5.92	5.92	0.95590	.	.	.	.	.	D	0.91848	0.7420	M	0.82630	2.6	0.38123	D	0.93793	D;D	0.67145	0.996;0.996	P;P	0.61940	0.896;0.896	D	0.93483	0.6829	9	0.87932	D	0	.	15.0828	0.72127	0.1417:0.8583:0.0:0.0	.	897;1278	B7WPD9;Q2KJY2	.;KI26B_HUMAN	M	1278;897;894	ENSP00000385545:I1278M;ENSP00000355475:I897M	ENSP00000355475:I897M	I	+	3	3	KIF26B	243916742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.148000	0.31614	2.813000	0.96785	0.561000	0.74099	ATC	KIF26B	-	NULL	ENSG00000162849		0.627	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0	21	0	C	XM_371354		245850119	1			no_errors	ENST00000407071	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	G	G	245850119	C	G	245850119	3	3	21	1	0	0	0	0	1	0	0	0	8322	816	29	5	3880	5	KIF26B	1	245850119	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3578994	245850119	3400502	44	5431											
ZNF670	93474	genome.wustl.edu	37	chr1	247201560	247201560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgtgagacaggatgtGcctatgaagggctgaatgac	12	9	13	7	0	0	4	0	4	0	1	1	6	1	5	2	2	1	1	2	2	4	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr1:247201560G>T	ENST00000366503.2	-	4	519	c.361C>A	c.(361-363)Cac>Aac	p.H121N		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GACAGGATGTGCCTATGAAGG	0.383																																																	0													168	154	159					1																	247201560		2203	4300	6503	SO:0001583	missense	0				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"Zinc fingers, C2H2-type", "-"	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.361C>A	1.37:g.247201560G>T	ENSP00000355459:p.His121Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H121N	ENST00000366503.2	37	c.361	CCDS31087.1	1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027126	0.35797	.	.	ENSG00000135747	ENST00000366503	T	0.34859	1.34	0.427	0.427	0.16489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65344	0.2682	H	0.95611	3.695	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.51655	-0.8678	9	0.66056	D	0.02	.	6.6408	0.22909	1.0E-4:0.0:0.9999:0.0	.	121	Q9BS34	ZN670_HUMAN	N	121	ENSP00000355459:H121N	ENSP00000355459:H121N	H	-	1	0	ZNF670	245268183	0.388000	0.25197	0.180000	0.23079	0.433000	0.31745	1.714000	0.37961	0.458000	0.26988	0.467000	0.42956	CAC	ZNF670	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000135747		0.383	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF670	HGNC	protein_coding	OTTHUMT00000098183.3	-	0	32	0	G	NM_033213		247201560	-1	tier1	-	no_errors	ENST00000366503	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.055	T	T	247201560	G	T	247201560	3	4	21	1	0	0	0	0	1	0	0	0	18125	1319	46	3	812	3	ZNF670	1	247201560	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1351441	247201560	2049061	45	5432											
APOB	338	genome.wustl.edu	37	chr2	21238336	21238336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcaggcgaccagtgggcGaggatctcacttctggcttc	6	10	14	11	2	2	0	1	0	2	0	4	3	2	1	1	5	0	2	1	5	0	3	rs140456702		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:21238336G>A	ENST00000233242.1	-	22	3541	c.3414C>T	c.(3412-3414)ctC>ctT	p.L1138L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1138					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGTGGGCGAGGATCTCAC	0.463																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	144	131	135		3414	-3.4	0	2	dbSNP_134	135	0,8600		0,0,4300	no	coding-synonymous	APOB	NM_000384.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1138/4564	21238336	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3414C>T	2.37:g.21238336G>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L1138	ENST00000233242.1	37	c.3414	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	55	0	G			21238336	-1	tier1	rs140456702	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	17.95	64	14	SNP	0.000	A	A	21238336	G	A	21238336	2	1	21	1	0	0	0	0	0	0	0	1	785	1045	37	1		1	APOB	2	21238336	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		21238336	221961037	46	5433											
APOB	338	genome.wustl.edu	37	chr2	21251398	21251398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaggaaagtctgaagaaGaacctcctggtcctgcagtc	13	8	10	10	0	2	3	1	1	1	2	5	4	4	4	3	2	2	1	3	2	5	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:21251398G>T	ENST00000233242.1	-	13	1757	c.1630C>A	c.(1630-1632)Ctt>Att	p.L544I	APOB_ENST00000399256.4_Missense_Mutation_p.L544I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	544	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L544I(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTGAAGAAGAACCTCCTGG	0.468																																																	1	Substitution - Missense(1)	lung(1)											96	84	88					2																	21251398		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1630C>A	2.37:g.21251398G>T	ENSP00000233242:p.Leu544Ile		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L544I	ENST00000233242.1	37	c.1630	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.101036	0.94245	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.78707	-1.2;-1.2	5.69	5.69	0.88448	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.64402	D	0.000002	D	0.89332	0.6685	M	0.80183	2.485	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.89487	0.3754	10	0.72032	D	0.01	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	544	P04114	APOB_HUMAN	I	544	ENSP00000233242:L544I;ENSP00000382200:L544I	ENSP00000233242:L544I	L	-	1	0	APOB	21104903	1.000000	0.71417	0.988000	0.46212	0.845000	0.48019	5.526000	0.67116	2.865000	0.98341	0.655000	0.94253	CTT	APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000084674		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	39	0	G			21251398	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	21251398	G	T	21251398	3	4	21	1	0	0	0	0	1	0	0	0	785	942	33	3	12129	3	APOB	2	21251398	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	13062	21251398	221947975	47	5434											
OTOF	9381	genome.wustl.edu	37	chr2	26703078	26703078	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcactcacctatggtGacctcaaaggtgatgggctt	9	9	11	12	0	2	2	2	2	0	0	2	2	2	2	3	3	1	2	3	3	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:26703078G>T	ENST00000272371.2	-	16	2031	c.1905C>A	c.(1903-1905)gtC>gtA	p.V635V	OTOF_ENST00000403946.3_Silent_p.V635V|OTOF_ENST00000402415.3_5'Flank|OTOF_ENST00000338581.6_5'Flank|OTOF_ENST00000339598.3_5'Flank	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	635					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTATGGTGACCTCAAAGG	0.587																																					GBM(102;732 1451 20652 24062 31372)												0													87	84	85					2																	26703078		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1905C>A	2.37:g.26703078G>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.V635	ENST00000272371.2	37	c.1905	CCDS1725.1	2																																																																																			OTOF	-	NULL	ENSG00000115155		0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	47	0	G			26703078	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	silent	10.00	35	4	SNP	1.000	T	T	26703078	G	T	26703078	2	4	21	1	0	0	0	0	0	0	0	1	11342	1277	45	3		3	OTOF	2	26703078	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5451680	26703078	216496295	48	5435											
AGBL5	60509	genome.wustl.edu	37	chr2	27276293	27276293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttctacttcagcgtccGgggaggaatgccaggaaaac	11	8	13	9	2	2	0	1	0	1	0	3	3	3	3	2	5	4	1	2	5	4	3	rs373073782		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:27276293G>A	ENST00000360131.4	+	3	398	c.239G>A	c.(238-240)cGg>cAg	p.R80Q	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.R80Q	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	80					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGCGTCCGGGGAGGAATG	0.527													G|||	1	0.000199681	0	0	5008	,	,		20425	0		0	False		,,,				2504	0.001																0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	110	102	104		239,239	5.5	1	2		104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AGBL5	NM_001035507.2,NM_021831.5	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	80/718,80/887	27276293	1,13005	2203	4300	6503	SO:0001583	missense	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.239G>A	2.37:g.27276293G>A	ENSP00000353249:p.Arg80Gln		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.R80Q	ENST00000360131.4	37	c.239	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029841	0.75504	0.0	1.16E-4	ENSG00000084693	ENST00000453161;ENST00000323064;ENST00000360131	T;T	0.15017	2.48;2.46	5.52	5.52	0.82312	.	0.226270	0.42964	N	0.000634	T	0.32436	0.0829	L	0.42008	1.315	0.43647	D	0.996056	D;D;D	0.89917	1.0;0.999;1.0	P;P;D	0.65684	0.866;0.888;0.937	T	0.01096	-1.1453	10	0.20519	T	0.43	-8.1358	18.2118	0.89872	0.0:0.0:1.0:0.0	.	80;80;80	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	Q	80	ENSP00000323681:R80Q;ENSP00000353249:R80Q	ENSP00000323681:R80Q	R	+	2	0	AGBL5	27129797	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.818000	0.55678	2.586000	0.87340	0.561000	0.74099	CGG	AGBL5	-	NULL	ENSG00000084693		0.527	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	-	0	10	0	G	NM_021831		27276293	1	tier1	-	no_errors	ENST00000360131	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A	A	27276293	G	A	27276293	3	1	21	1	0	0	0	0	1	0	0	0	378	1116	39	1	245	1	AGBL5	2	27276293	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	573215	27276293	215923080	49	5436											
PREPL	9581	genome.wustl.edu	37	chr2	44586763	44586763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaatgatcagcgaagttaTagtgattcaaatgctgtttc	14	13	8	6	1	2	2	2	2	0	0	3	3	2	2	0	0	3	3	0	0	6	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:44586763T>C	ENST00000409936.1	-	2	529	c.92A>G	c.(91-93)tAt>tGt	p.Y31C	PREPL_ENST00000260648.6_Missense_Mutation_p.Y31C|PREPL_ENST00000541738.1_Intron|CAMKMT_ENST00000378494.3_5'Flank|PREPL_ENST00000540817.1_Intron|PREPL_ENST00000378520.3_Missense_Mutation_p.Y31C|CAMKMT_ENST00000403853.3_5'Flank|PREPL_ENST00000409411.1_Intron|PREPL_ENST00000378511.3_Missense_Mutation_p.Y31C|CAMKMT_ENST00000407131.1_5'Flank|CAMKMT_ENST00000402247.1_5'Flank|PREPL_ENST00000410081.1_Missense_Mutation_p.Y31C|PREPL_ENST00000409272.1_Missense_Mutation_p.Y31C|PREPL_ENST00000409957.1_Intron	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	31						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCGAAGTTATAGTGATTCAA	0.333																																																	0													131	130	130					2																	44586763		2203	4300	6503	SO:0001583	missense	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.92A>G	2.37:g.44586763T>C	ENSP00000386543:p.Tyr31Cys		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.Y31C	ENST00000409936.1	37	c.92	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	T	10.30	1.311988	0.23821	.	.	ENSG00000138078	ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378520;ENST00000378511;ENST00000438314	.	.	.	5.27	-1.42	0.08913	.	1.326970	0.04739	N	0.422563	T	0.17831	0.0428	N	0.08118	0	0.25299	N	0.989299	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19128	-1.0315	9	0.36615	T	0.2	0.0078	4.2858	0.10855	0.1568:0.3866:0.0:0.4566	.	31;31;31	Q4J6C6-3;Q4J6C6-2;Q4J6C6	.;.;PPCEL_HUMAN	C	31	.	ENSP00000260648:Y31C	Y	-	2	0	PREPL	44440267	0.732000	0.28121	0.920000	0.36463	0.982000	0.71751	-0.501000	0.06398	-0.111000	0.12001	-0.177000	0.13119	TAT	PREPL	-	NULL	ENSG00000138078		0.333	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	-	0	41	0	T	NM_006036		44586763	-1	tier1	-	no_errors	ENST00000260648	ensembl	human	known	74_37	missense	32.86	47	23	SNP	0.439	C	C	44586763	T	C	44586763	3	2	21	1	0	0	0	0	1	0	0	0	12517	1406	49	4	2147	4	PREPL	2	44586763	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	17310470	44586763	198612610	50	5437											
MEIS1	4211	genome.wustl.edu	37	chr2	66665074	66665074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaatgacgctttaaagaGagataaagatgccatttatg	15	12	9	5	1	1	4	1	1	0	3	1	5	1	4	1	0	1	1	1	0	6	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:66665074G>A	ENST00000272369.9	+	2	675	c.218G>A	c.(217-219)aGa>aAa	p.R73K	MEIS1_ENST00000488550.1_Missense_Mutation_p.R73K|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000444274.2_Missense_Mutation_p.R41K|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000560281.2_Missense_Mutation_p.R73K|MEIS1_ENST00000495021.2_5'Flank|MEIS1_ENST00000398506.2_Missense_Mutation_p.R71K|MEIS1_ENST00000407092.2_Missense_Mutation_p.R73K	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	73					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCTTTAAAGAGAGATAAAGAT	0.517																																																	0													36	38	37					2																	66665074		2041	4188	6229	SO:0001583	missense	0				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"Homeoboxes / TALE class"	7000	protein-coding gene	gene with protein product		601739	"Meis1 (mouse) homolog", "Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.218G>A	2.37:g.66665074G>A	ENSP00000272369:p.Arg73Lys		A8MV50	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R73K	ENST00000272369.9	37	c.218	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803375	0.90623	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	L	0.60957	1.885	0.58432	D	0.999994	P;D;P	0.67145	0.808;0.996;0.514	P;D;P	0.77004	0.839;0.989;0.626	T	0.51593	-0.8686	10	0.62326	D	0.03	.	19.9089	0.97019	0.0:0.0:1.0:0.0	.	71;73;73	O00470-2;O00470;F8W8U3	.;MEIS1_HUMAN;.	K	73;73;71;41	ENSP00000272369:R73K;ENSP00000384461:R73K;ENSP00000381518:R71K;ENSP00000403206:R41K	ENSP00000272369:R73K	R	+	2	0	MEIS1	66518578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.296000	0.96104	2.793000	0.96121	0.655000	0.94253	AGA	MEIS1	-	NULL	ENSG00000143995		0.517	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4	-	0	21	0	G	NM_002398		66665074	1	tier1	-	no_errors	ENST00000407092	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	A	A	66665074	G	A	66665074	3	1	21	1	0	0	0	0	1	0	0	0	9505	942	33	3	224	3	MEIS1	2	66665074	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	22078311	66665074	176534299	51	5438											
SEMA4F	10505	genome.wustl.edu	37	chr2	74902360	74902360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgaccgcgtactcaccttCatccgggaccacccactcat	8	8	6	19	3	3	1	3	1	0	0	4	2	4	2	6	1	1	1	6	1	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:74902360C>G	ENST00000357877.2	+	10	1370	c.1221C>G	c.(1219-1221)ttC>ttG	p.F407L	SEMA4F_ENST00000473350.1_Intron|SEMA4F_ENST00000339773.5_Missense_Mutation_p.F252L	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	407	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TACTCACCTTCATCCGGGACC	0.562											OREG0014721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94	86	88					2																	74902360		2203	4300	6503	SO:0001583	missense	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"Semaphorins"	10734	protein-coding gene	gene with protein product	"m-Sema M"	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1221C>G	2.37:g.74902360C>G	ENSP00000350547:p.Phe407Leu	1156	Q542Y7|Q9NS35	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.F407L	ENST00000357877.2	37	c.1221	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725847	0.69074	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.34472	1.36;1.36	5.26	1.95	0.26073	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.82630	2.6	0.35484	D	0.798407	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.68469	-0.5400	10	0.87932	D	0	.	9.3551	0.38161	0.0:0.7041:0.0:0.2959	.	252;407	O95754-2;O95754	.;SEM4F_HUMAN	L	407;252	ENSP00000350547:F407L;ENSP00000342675:F252L	ENSP00000342675:F252L	F	+	3	2	SEMA4F	74755868	0.487000	0.25988	1.000000	0.80357	0.953000	0.61014	-0.119000	0.10676	0.589000	0.29677	0.453000	0.30009	TTC	SEMA4F	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000135622		0.562	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	-	0	45	0	C	NM_004263		74902360	1	tier1	-	no_errors	ENST00000357877	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.999	G	G	74902360	C	G	74902360	3	3	21	1	0	0	0	0	1	0	0	0	14080	825	29	5	1259	5	SEMA4F	2	74902360	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	8237286	74902360	168297013	52	5439											
DNAH6	1768	genome.wustl.edu	37	chr2	84864352	84864352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctctctagattcatgtttGaggggcgggaaataaagttg	11	12	13	5	1	2	2	1	1	1	1	3	3	2	3	0	3	1	3	0	3	4	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:84864352G>C	ENST00000237449.6	+	30	4680	c.4672G>C	c.(4672-4674)Gag>Cag	p.E1558Q	DNAH6_ENST00000389394.3_Missense_Mutation_p.E1558Q|DNAH6_ENST00000398278.2_Missense_Mutation_p.E1558Q			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1558	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTCATGTTTGAGGGGCGGGA	0.383																																																	0													84	73	76					2																	84864352		692	1591	2283	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.4672G>C	2.37:g.84864352G>C	ENSP00000237449:p.Glu1558Gln		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E1558Q	ENST00000237449.6	37	c.4672	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815034	0.90790	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.09255	3.0;3.0;3.0	5.89	5.89	0.94794	ATPase, AAA+ type, core (1);	.	.	.	.	T	0.34513	0.0900	M	0.76574	2.34	0.50039	D	0.999846	D	0.59767	0.986	D	0.64877	0.93	T	0.01356	-1.1376	9	0.72032	D	0.01	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	1558	Q9C0G6	DYH6_HUMAN	Q	1558	ENSP00000374045:E1558Q;ENSP00000381326:E1558Q;ENSP00000237449:E1558Q	ENSP00000237449:E1558Q	E	+	1	0	DNAH6	84717863	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.729000	0.91490	2.793000	0.96121	0.561000	0.74099	GAG	DNAH6	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000115423		0.383	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	22	0	G	NM_001370		84864352	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	36.00	16	9	SNP	1.000	C	C	84864352	G	C	84864352	3	2	21	1	0	0	0	0	1	0	0	0	4619	1291	45	5	4790	5	DNAH6	2	84864352	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9961992	84864352	158335021	53	5440											
POLR1A	25885	genome.wustl.edu	37	chr2	86258456	86258456	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcacggccacactgacctgGcaccacaggctctcctcggt	7	7	10	17	2	1	1	0	1	1	0	3	1	1	1	4	4	1	3	4	4	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:86258456G>T	ENST00000263857.6	-	30	4953	c.4575C>A	c.(4573-4575)tgC>tgA	p.C1525*	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1525					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACTGACCTGGCACCACAGGC	0.662																																																	0													68	73	71					2																	86258456		2102	4214	6316	SO:0001587	stop_gained	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4575C>A	2.37:g.86258456G>T	ENSP00000263857:p.Cys1525*		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.C1525*	ENST00000263857.6	37	c.4575	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	44	10.573001	0.99430	.	.	ENSG00000068654	ENST00000263857	.	.	.	5.11	-3.71	0.04424	.	0.198315	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.4037	9.2059	0.37289	0.6584:0.1179:0.2236:0.0	.	.	.	.	X	1525	.	ENSP00000263857:C1525X	C	-	3	2	POLR1A	86111967	0.989000	0.36119	0.823000	0.32752	0.667000	0.39255	0.120000	0.15647	-0.811000	0.04369	-1.023000	0.02433	TGC	POLR1A	-	pfam_RNA_pol_Rpb1_5	ENSG00000068654		0.662	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2		0	37	0	G	NM_015425		86258456	-1			no_errors	ENST00000263857	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	0.962	T	T	86258456	G	T	86258456	4	4	21	1	0	0	0	0	0	1	0	0	12248	1195	42	3	607	3	POLR1A	2	86258456	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1394104	86258456	156940917	54	5441											
SMYD1	150572	genome.wustl.edu	37	chr2	88405881	88405881	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgcctggagaagcaggAgccagtgtttgctgacacca	10	7	15	9	0	0	2	0	1	0	1	0	5	0	4	3	3	4	3	3	3	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:88405881A>C	ENST00000419482.2	+	8	1104	c.1019A>C	c.(1018-1020)gAg>gCg	p.E340A	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.E327A	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	340					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAGAAGCAGGAGCCAGTGTTT	0.517																																																	0													163	121	136					2																	88405881		2203	4300	6503	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1019A>C	2.37:g.88405881A>C	ENSP00000393453:p.Glu340Ala		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.E340A	ENST00000419482.2	37	c.1019	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	A	16.83	3.229924	0.58777	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.24908	1.83;1.87	5.03	5.03	0.67393	.	0.237949	0.49305	D	0.000159	T	0.28764	0.0713	M	0.65975	2.015	0.80722	D	1	B	0.13145	0.007	B	0.17433	0.018	T	0.06215	-1.0839	10	0.23302	T	0.38	-14.3319	14.2602	0.66080	1.0:0.0:0.0:0.0	.	340	Q8NB12	SMYD1_HUMAN	A	340;327;161	ENSP00000393453:E340A;ENSP00000407888:E327A	ENSP00000295833:E161A	E	+	2	0	SMYD1	88186996	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	8.332000	0.90024	2.016000	0.59253	0.433000	0.28618	GAG	SMYD1	-	NULL	ENSG00000115593		0.517	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0	81	0	A	XM_097915		88405881	1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	missense	8.86	72	7	SNP	1.000	C	C	88405881	A	C	88405881	3	2	21	1	0	0	0	0	1	0	0	0	14866	304	11	4	1049	4	SMYD1	2	88405881	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	2147425	88405881	154793492	55	5442											
VWA3B	200403	genome.wustl.edu	37	chr2	98852870	98852870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaaatgagcatcttgctgGctgaggagtggctggatgac	10	9	15	7	0	1	4	0	3	1	1	1	6	1	6	0	4	2	4	0	4	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:98852870G>T	ENST00000477737.1	+	18	2650	c.2446G>T	c.(2446-2448)Gct>Tct	p.A816S		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	816										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCTTGCTGGCTGAGGAGTG	0.443																																																	0													115	120	119					2																	98852870		1941	4157	6098	SO:0001583	missense	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2446G>T	2.37:g.98852870G>T	ENSP00000417955:p.Ala816Ser		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A816S	ENST00000477737.1	37	c.2446	CCDS42718.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.894|0.894	-0.724546|-0.724546	0.03158|0.03158	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.05925|.	3.37|.	4.48|4.48	-3.4|-3.4	0.04853|0.04853	.|.	1.295940|.	0.05351|.	N|.	0.531811|.	T|T	0.34890|0.34890	0.0913|0.0913	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.21071|.	0.013;0.051;0.013;0.034|.	B;B;B;B|.	0.22601|.	0.015;0.016;0.015;0.04|.	T|T	0.38499|0.38499	-0.9658|-0.9658	10|5	0.11182|.	T|.	0.66|.	.|.	8.5496|8.5496	0.33444|0.33444	0.2746:0.1566:0.5688:0.0|0.2746:0.1566:0.5688:0.0	.|.	208;816;816;816|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	S|V	816|226	ENSP00000417955:A816S|.	ENSP00000417955:A816S|.	A|G	+|+	1|2	0|0	VWA3B|VWA3B	98219302|98219302	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.167000|0.167000	0.16602|0.16602	-0.908000|-0.908000	0.03857|0.03857	-2.615000|-2.615000	0.00158|0.00158	GCT|GGC	VWA3B	-	NULL	ENSG00000168658		0.443	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2		0	50	0	G	NM_144992		98852870	1			no_errors	ENST00000477737	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.000	T	T	98852870	G	T	98852870	3	4	21	1	0	0	0	0	1	0	0	0	17290	1203	42	3	2512	3	VWA3B	2	98852870	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10446989	98852870	144346503	56	5443											
NMS	129521	genome.wustl.edu	37	chr2	101093850	101093850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcactactccagaactcagGaggcaacacatccagttaaa	15	8	6	12	0	2	1	2	0	0	1	4	2	4	2	2	2	3	2	2	2	5	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:101093850G>C	ENST00000376865.1	+	5	242	c.235G>C	c.(235-237)Gag>Cag	p.E79Q		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	79					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAGAACTCAGGAGGCAACACA	0.378																																																	0													92	85	87					2																	101093850		2203	4300	6503	SO:0001583	missense	0			AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"Endogenous ligands"	32203	protein-coding gene	gene with protein product	"prepro-NMS"					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.235G>C	2.37:g.101093850G>C	ENSP00000366061:p.Glu79Gln			Missense_Mutation	SNP	pfam_NMU_C	p.E79Q	ENST00000376865.1	37	c.235	CCDS33259.1	2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099569	0.37048	.	.	ENSG00000204640	ENST00000376865	T	0.25414	1.8	4.88	2.64	0.31445	.	0.513245	0.18895	N	0.128196	T	0.25494	0.0620	L	0.56769	1.78	0.09310	N	0.999999	D	0.54047	0.964	P	0.45310	0.476	T	0.09422	-1.0675	10	0.38643	T	0.18	-8.8828	6.4552	0.21926	0.2741:0.0:0.7259:0.0	.	79	Q5H8A3	NMS_HUMAN	Q	79	ENSP00000366061:E79Q	ENSP00000366061:E79Q	E	+	1	0	NMS	100460282	0.990000	0.36364	0.519000	0.27824	0.946000	0.59487	1.565000	0.36386	0.515000	0.28320	0.655000	0.94253	GAG	NMS	-	NULL	ENSG00000204640		0.378	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMS	HGNC	protein_coding	OTTHUMT00000329737.1	-	0	48	0	G	NM_001011717		101093850	1	tier1	-	no_errors	ENST00000376865	ensembl	human	known	74_37	missense	13.11	53	8	SNP	0.454	C	C	101093850	G	C	101093850	3	2	21	1	0	0	0	0	1	0	0	0	10541	1175	41	5	253	5	NMS	2	101093850	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2240980	101093850	142105523	57	5444											
DPP10	57628	genome.wustl.edu	37	chr2	116535403	116535403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcccagaggaaggcagCtgtacaggtaagcagtgtgc	10	8	13	10	0	1	1	0	0	1	1	2	2	1	2	1	3	4	5	1	3	3	3	rs370987489		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:116535403C>A	ENST00000410059.1	+	15	1834	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M	DPP10_ENST00000409163.1_Missense_Mutation_p.L402M|DPP10_ENST00000393147.2_Missense_Mutation_p.L456M|DPP10_ENST00000310323.8_Missense_Mutation_p.L445M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	452						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGGAAGGCAGCTGTACAGGTA	0.403																																																	0													152	135	141					2																	116535403		2203	4300	6503	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1354C>A	2.37:g.116535403C>A	ENSP00000386565:p.Leu452Met		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.L456M	ENST00000410059.1	37	c.1366	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594966	0.66219	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.34	3.54	0.40534	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.68155	0.2970	M	0.91459	3.21	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.97110	0.992;1.0;0.995;0.995	T	0.71407	-0.4602	10	0.87932	D	0	-31.3092	9.5784	0.39472	0.0:0.8275:0.0:0.1725	.	445;456;448;452	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	452;402;456;445;402	ENSP00000386565:L452M;ENSP00000387038:L402M;ENSP00000376855:L456M;ENSP00000309066:L445M	ENSP00000309066:L445M	L	+	1	2	DPP10	116251873	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	1.345000	0.33953	0.629000	0.30376	0.579000	0.79373	CTG	DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.403	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4		0	40	0	C	NM_020868		116535403	1			no_errors	ENST00000393147	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	116535403	C	A	116535403	3	1	21	1	0	0	0	0	1	0	0	0	4741	796	28	3	1583	3	DPP10	2	116535403	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	15441553	116535403	126663970	58	5445											
PROC	5624	genome.wustl.edu	37	chr2	128183756	128183756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaccaagtagatccgCggctcattgatgggaagatg	14	7	13	7	2	1	5	1	1	0	4	2	6	2	6	2	2	0	2	2	2	5	2	rs121918143		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:128183756C>T	ENST00000234071.3	+	7	718	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	MIR4783_ENST00000580343.1_RNA|PROC_ENST00000409048.1_Missense_Mutation_p.R245W|PROC_ENST00000453608.2_Missense_Mutation_p.R266W|PROC_ENST00000422777.3_Missense_Mutation_p.R211W	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	211		Cleavage; by thrombin.	R -> Q (in patients with PROC deficiency; dbSNP:rs28933987). {ECO:0000269|PubMed:8499565}.|R -> W (in THPH3; London-1/Tochigi; dbSNP:rs28933986). {ECO:0000269|PubMed:2602169, ECO:0000269|PubMed:8292730}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGTAGATCCGCGGCTCATTGA	0.607																																																	0			GRCh37	CM880060	PROC	M	rs121918143	C	TRP/ARG	0,4406		0,0,2203	145	120	128	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	631	0.6	0	2	dbSNP_133	128	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROC	NM_000312.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	211/462	128183756	1,13005	2203	4300	6503	SO:0001583	missense	0			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"Endogenous ligands"	9451	protein-coding gene	gene with protein product	"prepro-protein C"	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.631C>T	2.37:g.128183756C>T	ENSP00000234071:p.Arg211Trp		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.R266W	ENST00000234071.3	37	c.796	CCDS2145.1	2	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412948	0.25465	0.0	1.16E-4	ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	3.94	0.633	0.17712	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.168023	0.28182	N	0.016298	D	0.91740	0.7388	N	0.22421	0.69	0.32734	A	0.491369	P;P;D;P	0.62365	0.53;0.488;0.991;0.53	B;B;P;B	0.54270	0.069;0.088;0.747;0.041	D	0.91506	0.5223	9	0.52906	T	0.07	.	11.2372	0.48946	0.6604:0.3396:0.0:0.0	rs28933986	266;267;245;211	B4DPQ7;B4DPQ3;E7END6;P04070	.;.;.;PROC_HUMAN	W	211;170;266;245;211	ENSP00000234071:R211W;ENSP00000404030:R266W;ENSP00000386679:R245W;ENSP00000409543:R211W	ENSP00000234071:R211W	R	+	1	2	PROC	127900226	0.050000	0.20438	0.001000	0.08648	0.006000	0.05464	0.275000	0.18698	-0.031000	0.13781	-0.310000	0.09108	CGG	PROC	-	pirsf_Pept_S1A_FX,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1	ENSG00000115718		0.607	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROC	HGNC	protein_coding	OTTHUMT00000254385.2	-	0	16	0	C	NM_000312		128183756	1	tier1	rs28933986	no_errors	ENST00000453608	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.020	T	T	128183756	C	T	128183756	3	4	21	1	0	0	0	0	1	0	0	0	12587	759	27	1	653	1	PROC	2	128183756	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	11648353	128183756	115015617	59	5446											
PTPN18	26469	genome.wustl.edu	37	chr2	131128322	131128322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgatgtggtccttaagatGaggaagcagcggcctgcggc	8	10	15	8	2	0	3	0	2	0	1	1	4	1	4	2	4	3	1	2	4	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:131128322G>A	ENST00000175756.5	+	10	902	c.801G>A	c.(799-801)atG>atA	p.M267I	PTPN18_ENST00000347849.3_Missense_Mutation_p.M160I	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	267	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TCCTTAAGATGAGGAAGCAGC	0.577																																																	0													105	98	100					2																	131128322		2203	4300	6503	SO:0001583	missense	0			X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.801G>A	2.37:g.131128322G>A	ENSP00000175756:p.Met267Ile		B4E1E6|Q53P42	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.M267I	ENST00000175756.5	37	c.801	CCDS2161.1	2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307376	0.40795	.	.	ENSG00000072135	ENST00000175756;ENST00000347849;ENST00000409022	D;D	0.82433	-1.61;-1.61	4.88	2.05	0.26809	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.529823	0.16048	N	0.232081	T	0.71341	0.3328	L	0.28694	0.88	0.36816	D	0.88614	B;B;B	0.17465	0.007;0.022;0.022	B;B;B	0.20577	0.015;0.03;0.022	T	0.65508	-0.6151	10	0.59425	D	0.04	.	5.9931	0.19478	0.1732:0.0:0.6641:0.1627	.	246;267;160	E7EMB8;Q99952;B4E1E6	.;PTN18_HUMAN;.	I	267;160;246	ENSP00000175756:M267I;ENSP00000310092:M160I	ENSP00000175756:M267I	M	+	3	0	PTPN18	130844792	0.998000	0.40836	0.712000	0.30502	0.618000	0.37518	0.944000	0.29043	0.313000	0.23062	0.591000	0.81541	ATG	PTPN18	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000072135		0.577	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN18	HGNC	protein_coding	OTTHUMT00000254523.2	-	0	66	0	G			131128322	1	tier1	-	no_errors	ENST00000175756	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.998	A	A	131128322	G	A	131128322	3	1	21	1	0	0	0	0	1	0	0	0	12827	1290	45	3	839	3	PTPN18	2	131128322	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2944566	131128322	112071051	60	5447											
THSD7B	80731	genome.wustl.edu	37	chr2	138320820	138320820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcccatgttacagtgaGtgcaatcagtattcctgggt	9	12	11	9	0	1	1	1	1	0	0	3	1	3	1	2	1	2	4	2	1	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:138320820G>T	ENST00000409968.1	+	16	3346	c.3168G>T	c.(3166-3168)gaG>gaT	p.E1056D	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1059D|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1028D			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1058	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTACAGTGAGTGCAATCAGT	0.413																																																	0													118	112	114					2																	138320820		1952	4144	6096	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3168G>T	2.37:g.138320820G>T	ENSP00000387145:p.Glu1056Asp			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E1059D	ENST00000409968.1	37	c.3177		2	.	.	.	.	.	.	.	.	.	.	G	0.998	-0.691769	0.03303	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.58358	0.34;0.34;0.34	5.14	1.1	0.20463	.	0.105097	0.64402	D	0.000005	T	0.19685	0.0473	N	0.02011	-0.69	0.80722	D	1	B	0.16802	0.019	B	0.20384	0.029	T	0.26121	-1.0112	10	0.05620	T	0.96	.	9.4415	0.38670	0.3727:0.0:0.6273:0.0	.	1028	C9JKN6	.	D	1056;1059;1028	ENSP00000387145:E1056D;ENSP00000272643:E1059D;ENSP00000413841:E1028D	ENSP00000272643:E1059D	E	+	3	2	THSD7B	138037290	0.958000	0.32768	1.000000	0.80357	0.998000	0.95712	0.045000	0.14013	0.228000	0.21019	0.585000	0.79938	GAG	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	32	0	G	XM_046570.9		138320820	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.994	T	T	138320820	G	T	138320820	3	4	21	1	0	0	0	0	1	0	0	0	15927	1020	36	3	3138	3	THSD7B	2	138320820	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7192498	138320820	104878553	61	5448											
MBD5	55777	genome.wustl.edu	37	chr2	149226195	149226195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccagcccagcgtcatcagGttcccagatatatggagatg	10	8	11	12	1	2	2	2	0	0	2	3	3	3	2	3	2	2	1	3	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:149226195G>C	ENST00000407073.1	+	9	1680	c.683G>C	c.(682-684)gGt>gCt	p.G228A	MBD5_ENST00000404807.1_Missense_Mutation_p.G228A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	228					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCGTCATCAGGTTCCCAGATA	0.527																																																	0													99	103	102					2																	149226195		2203	4300	6503	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.683G>C	2.37:g.149226195G>C	ENSP00000386049:p.Gly228Ala		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.G228A	ENST00000407073.1	37	c.683	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757757	0.31137	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.53640	0.61;0.61	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000014	T	0.50837	0.1639	N	0.14661	0.345	0.58432	D	0.999994	D	0.69078	0.997	P	0.62813	0.907	T	0.52071	-0.8624	10	0.34782	T	0.22	-4.7336	19.0076	0.92857	0.0:0.0:1.0:0.0	.	228	Q9P267	MBD5_HUMAN	A	228	ENSP00000386049:G228A;ENSP00000384672:G228A	ENSP00000384672:G228A	G	+	2	0	MBD5	148942665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.644000	0.83416	2.571000	0.86741	0.591000	0.81541	GGT	MBD5	-	NULL	ENSG00000204406		0.527	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	-	0	25	0	G			149226195	1	tier1	-	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	C	C	149226195	G	C	149226195	3	2	21	1	0	0	0	0	1	0	0	0	9385	1261	44	5	697	5	MBD5	2	149226195	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10905375	149226195	93973178	62	5449											
FMNL2	114793	genome.wustl.edu	37	chr2	153488536	153488536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagctcttagatacaaaGtcaacagacagaaagcaaac	18	8	6	9	0	3	3	2	0	1	3	3	3	3	3	0	0	5	2	0	0	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:153488536G>T	ENST00000475377.2	+	8	890	c.690G>T	c.(688-690)aaG>aaT	p.K230N	FMNL2_ENST00000288670.9_Missense_Mutation_p.K855N			Q96PY5	FMNL2_HUMAN	formin-like 2	855	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TAGATACAAAGTCAACAGACA	0.408																																																	0													94	87	90					2																	153488536		1892	4120	6012	SO:0001583	missense	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.690G>T	2.37:g.153488536G>T	ENSP00000418959:p.Lys230Asn		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.K855N	ENST00000475377.2	37	c.2565		2	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832521	0.50845	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.44482	0.92;0.92	5.83	3.08	0.35506	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.71056	0.3295	H	0.95645	3.7	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.997;1.0;0.999	T	0.75900	-0.3154	10	0.87932	D	0	.	9.5857	0.39514	0.2757:0.0:0.7243:0.0	.	855;336;855	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	N	855;336;230	ENSP00000288670:K855N;ENSP00000418959:K230N	ENSP00000288670:K855N	K	+	3	2	FMNL2	153196782	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.000000	0.57039	0.821000	0.34540	0.655000	0.94253	AAG	FMNL2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000157827		0.408	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333583.3	-	0	57	0	G	NM_052905		153488536	1	tier1	-	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	153488536	G	T	153488536	3	4	21	1	0	0	0	0	1	0	0	0	5974	1020	36	3	2647	3	FMNL2	2	153488536	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4262341	153488536	89710837	63	5450											
ARL6IP6	151188	genome.wustl.edu	37	chr2	153575184	153575184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggctctgcggcgccgcGgtcccggcaccccgggccct	1	5	16	19	7	1	0	0	0	1	0	3	0	2	0	5	6	1	2	5	6	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:153575184G>A	ENST00000326446.5	+	1	757	c.46G>A	c.(46-48)Ggt>Agt	p.G16S	PRPF40A_ENST00000486100.1_5'Flank|PRPF40A_ENST00000410080.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	16						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCGGCGCCGCGGTCCCGGCAC	0.682																																																	0													23	31	28					2																	153575184		2091	4181	6272	SO:0001583	missense	0			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.46G>A	2.37:g.153575184G>A	ENSP00000315357:p.Gly16Ser		B2RDS6|Q7Z4G7	Missense_Mutation	SNP	NULL	p.G16S	ENST00000326446.5	37	c.46	CCDS2197.1	2	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295421	0.40594	.	.	ENSG00000177917	ENST00000326446	.	.	.	4.41	0.441	0.16577	.	1.077880	0.07135	N	0.846285	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	B	0.26935	0.164	B	0.17433	0.018	T	0.23368	-1.0190	9	0.44086	T	0.13	0.0164	9.997	0.41905	0.1452:0.4294:0.4254:0.0	.	16	Q8N6S5	AR6P6_HUMAN	S	16	.	ENSP00000315357:G16S	G	+	1	0	ARL6IP6	153283430	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.062000	0.14389	-0.028000	0.13850	-1.109000	0.02080	GGT	ARL6IP6	-	NULL	ENSG00000177917		0.682	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP6	HGNC	protein_coding	OTTHUMT00000254852.3	-	0	62	0	G	NM_152522		153575184	1	tier1	-	no_errors	ENST00000326446	ensembl	human	known	74_37	missense	18.00	41	9	SNP	0.002	A	A	153575184	G	A	153575184	3	1	21	1	0	0	0	0	1	0	0	0	946	1116	39	1	48	1	ARL6IP6	2	153575184	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	86648	153575184	89624189	64	5451											
GPD2	2820	genome.wustl.edu	37	chr2	157426011	157426011	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagattggagccccacactCtacattaggcttgtgcagga	12	9	10	10	0	1	1	0	0	1	1	1	3	1	3	2	3	3	2	2	3	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:157426011C>G	ENST00000310454.6	+	11	1809	c.1437C>G	c.(1435-1437)ctC>ctG	p.L479L	GPD2_ENST00000438166.2_Silent_p.L479L|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409125.4_Silent_p.L252L|GPD2_ENST00000409674.1_Silent_p.L479L	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	479					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GCCCCACACTCTACATTAGGC	0.438																																																	0													97	94	95					2																	157426011		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1437C>G	2.37:g.157426011C>G			A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.L479	ENST00000310454.6	37	c.1437	CCDS2202.1	2																																																																																			GPD2	-	NULL	ENSG00000115159		0.438	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	-	0	33	0	C			157426011	1	tier1	-	no_errors	ENST00000310454	ensembl	human	known	74_37	silent	26.67	11	4	SNP	1.000	G	G	157426011	C	G	157426011	2	3	21	1	0	0	0	0	0	0	0	1	6632	900	32	5		5	GPD2	2	157426011	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3850827	157426011	85773362	65	5452											
PLA2R1	22925	genome.wustl.edu	37	chr2	160832730	160832730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcctgataaaagagccagGgtacatctgaaaaagaaaca	19	6	8	8	0	1	4	0	2	1	2	2	4	2	4	2	1	3	1	2	1	6	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:160832730G>T	ENST00000283243.7	-	17	2650	c.2444C>A	c.(2443-2445)cCc>cAc	p.P815H	PLA2R1_ENST00000392771.1_Missense_Mutation_p.P815H	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	815					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.P815R(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAGAGCCAGGGTACATCTGA	0.373																																																	1	Substitution - Missense(1)	lung(1)											74	71	72					2																	160832730		2203	4300	6503	SO:0001583	missense	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2444C>A	2.37:g.160832730G>T	ENSP00000283243:p.Pro815His		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.P815H	ENST00000283243.7	37	c.2444	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652309	0.47362	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.07908	3.15;3.15	5.18	5.18	0.71444	C-type lectin fold (1);C-type lectin (1);	0.057125	0.64402	D	0.000001	T	0.28499	0.0705	M	0.66506	2.035	0.54753	D	0.999989	B;D;D	0.89917	0.431;1.0;1.0	B;D;D	0.83275	0.269;0.996;0.985	T	0.00397	-1.1765	10	0.46703	T	0.11	.	17.8206	0.88649	0.0:0.0:1.0:0.0	.	815;815;815	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	H	815	ENSP00000283243:P815H;ENSP00000376524:P815H	ENSP00000283243:P815H	P	-	2	0	PLA2R1	160540976	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	6.289000	0.72696	2.560000	0.86352	0.561000	0.74099	CCC	PLA2R1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin	ENSG00000153246		0.373	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1		0	30	0	G			160832730	-1			no_errors	ENST00000283243	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.999	T	T	160832730	G	T	160832730	3	4	21	1	0	0	0	0	1	0	0	0	12049	1232	43	3	2011	3	PLA2R1	2	160832730	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3406719	160832730	82366643	66	5453											
SLC4A10	57282	genome.wustl.edu	37	chr2	162751319	162751319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcgaatagagcctcccaAaaatgttccttcccaggtat	12	11	6	12	1	0	1	0	0	0	1	4	2	3	1	4	1	1	2	4	1	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:162751319A>C	ENST00000446997.1	+	11	1418	c.1325A>C	c.(1324-1326)aAa>aCa	p.K442T	SLC4A10_ENST00000272716.5_Missense_Mutation_p.K412T|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.K412T|SLC4A10_ENST00000375514.5_Missense_Mutation_p.K423T|SLC4A10_ENST00000421911.1_Missense_Mutation_p.K442T	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	442					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GAGCCTCCCAAAAATGTTCCT	0.328																																																	0													114	106	108					2																	162751319		1808	4075	5883	SO:0001583	missense	0				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"Solute carriers"	13811	protein-coding gene	gene with protein product		605556	"solute carrier family 4, sodium bicarbonate transporter-like, member 10"			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1325A>C	2.37:g.162751319A>C	ENSP00000393066:p.Lys442Thr		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.K442T	ENST00000446997.1	37	c.1325	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451266	0.84209	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.37	5.37	0.77165	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.84511	2.7	0.80722	D	1	D;P;D;D	0.89917	1.0;0.786;1.0;0.996	D;P;D;P	0.97110	1.0;0.627;1.0;0.807	D	0.91167	0.4965	10	0.51188	T	0.08	.	15.6669	0.77236	1.0:0.0:0.0:0.0	.	423;442;412;442	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	T	423;412;412;411;442;442;441	ENSP00000364664:K423T;ENSP00000395797:K412T;ENSP00000272716:K412T;ENSP00000393066:K442T;ENSP00000404486:K442T	ENSP00000272716:K412T	K	+	2	0	SLC4A10	162459565	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.170000	0.68504	0.533000	0.62120	AAA	SLC4A10	-	superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	ENSG00000144290		0.328	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	-	0	41	0	A	NM_022058		162751319	1	tier1	-	no_errors	ENST00000446997	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	C	C	162751319	A	C	162751319	3	2	21	1	0	0	0	0	1	0	0	0	14696	14	1	4	1452	4	SLC4A10	2	162751319	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	1918589	162751319	80448054	67	5454											
SCN3A	6328	genome.wustl.edu	37	chr2	165996004	165996004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttccattgtgttggtcaGaatgctggctatgctcacgg	7	13	11	10	1	2	1	2	0	0	1	3	1	3	1	2	3	2	4	2	3	2	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:165996004G>A	ENST00000360093.3	-	14	2625	c.2134C>T	c.(2134-2136)Ctg>Ttg	p.L712L	SCN3A_ENST00000409101.3_Silent_p.L663L|SCN3A_ENST00000283254.7_Silent_p.L712L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	712					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGTTGGTCAGAATGCTGGCT	0.428																																																	0													170	143	152					2																	165996004		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2134C>T	2.37:g.165996004G>A			Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L712	ENST00000360093.3	37	c.2134		2																																																																																			SCN3A	-	NULL	ENSG00000153253		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	34	0	G	NM_006922		165996004	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	silent	28.57	20	8	SNP	0.995	A	A	165996004	G	A	165996004	2	1	21	1	0	0	0	0	0	0	0	1	13963	933	33	3		3	SCN3A	2	165996004	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3244685	165996004	77203369	68	5455											
SCN1A	6323	genome.wustl.edu	37	chr2	166900304	166900304	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacagtgctgtgcatctTcccattcgctggaaacactg	9	11	8	13	1	1	0	0	0	1	0	4	1	3	1	2	1	3	3	2	1	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:166900304T>G	ENST00000303395.4	-	11	1917	c.1918A>C	c.(1918-1920)Aag>Cag	p.K640Q	SCN1A_ENST00000423058.2_Missense_Mutation_p.K640Q|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.K640Q|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K640Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	640					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGTGCATCTTCCCATTCGCT	0.532																																																	0													168	137	148					2																	166900304		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1918A>C	2.37:g.166900304T>G	ENSP00000303540:p.Lys640Gln		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.K640Q	ENST00000303395.4	37	c.1918	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345703	0.61073	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	5.05	5.05	0.67936	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000001	D	0.95027	0.8390	M	0.91090	3.175	0.45330	D	0.998323	P;P;P	0.50710	0.924;0.938;0.767	P;P;P	0.48982	0.461;0.597;0.505	D	0.96008	0.8999	10	0.87932	D	0	.	15.0904	0.72188	0.0:0.0:0.0:1.0	.	640;640;640	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	640	ENSP00000407030:K640Q;ENSP00000303540:K640Q;ENSP00000364554:K640Q;ENSP00000386312:K640Q	ENSP00000303540:K640Q	K	-	1	0	SCN1A	166608550	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.197000	0.72100	2.026000	0.59711	0.459000	0.35465	AAG	SCN1A	-	pfam_DUF3451	ENSG00000144285		0.532	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	53	0	T	NM_006920		166900304	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	21.82	43	12	SNP	1.000	G	G	166900304	T	G	166900304	3	3	21	1	0	0	0	0	1	0	0	0	13959	1792	62	4	4175	4	SCN1A	2	166900304	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	904300	166900304	76299069	69	5456											
SSB	6741	genome.wustl.edu	37	chr2	170662222	170662222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaattgtggaagcattgaGcaaatccaaggcagaactca	15	9	10	7	0	1	2	1	1	0	1	2	3	2	3	1	2	3	4	1	2	5	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:170662222G>T	ENST00000409333.1	+	4	465	c.218G>T	c.(217-219)aGc>aTc	p.S73I	SSB_ENST00000260956.4_Missense_Mutation_p.S73I			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	73	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAAGCATTGAGCAAATCCAAG	0.368																																																	0													64	66	65					2																	170662222		2203	4300	6503	SO:0001583	missense	0				CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"La ribonucleoprotein domain containing", "RNA binding motif (RRM) containing"	11316	protein-coding gene	gene with protein product	"La ribonucleoprotein domain family, member 3"	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.218G>T	2.37:g.170662222G>T	ENSP00000386636:p.Ser73Ile		Q15367|Q53XJ4	Missense_Mutation	SNP	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.S73I	ENST00000409333.1	37	c.218	CCDS2237.1	2	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739020	0.49045	.	.	ENSG00000138385	ENST00000422006;ENST00000260956;ENST00000409005;ENST00000417292;ENST00000409333	T;T;T;T	0.44881	0.91;0.91;0.93;0.91	5.62	4.51	0.55191	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.248176	0.48286	D	0.000189	T	0.50701	0.1631	M	0.75085	2.285	0.40554	D	0.981148	B;B	0.32302	0.363;0.347	B;P	0.44732	0.222;0.459	T	0.55903	-0.8067	10	0.56958	D	0.05	-7.5783	8.0371	0.30499	0.237:0.0:0.763:0.0	.	73;73	E9PFH8;P05455	.;LA_HUMAN	I	73;73;73;22;73	ENSP00000397029:S73I;ENSP00000260956:S73I;ENSP00000396890:S22I;ENSP00000386636:S73I	ENSP00000260956:S73I	S	+	2	0	SSB	170370468	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.162000	0.42367	2.809000	0.96659	0.467000	0.42956	AGC	SSB	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	ENSG00000138385		0.368	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSB	HGNC	protein_coding	OTTHUMT00000333316.1	-	0	59	0	G	NM_003142		170662222	1	tier1	-	no_errors	ENST00000260956	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	170662222	G	T	170662222	3	4	21	1	0	0	0	0	1	0	0	0	15225	971	34	3	228	3	SSB	2	170662222	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3761918	170662222	72537151	70	5457											
TTN	7273	genome.wustl.edu	37	chr2	179592947	179592947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaacttccagagacacaGatctctcatggcacacaagt	14	10	6	11	0	2	2	1	0	1	2	4	3	3	2	1	1	1	1	1	1	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:179592947G>T	ENST00000591111.1	-	65	18877	c.18653C>A	c.(18652-18654)tCt>tAt	p.S6218Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6535Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5291Y|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12998	Ig-like 43.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAGACACAGATCTCTCATG	0.398																																																	0													72	69	70					2																	179592947		1887	4124	6011	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18653C>A	2.37:g.179592947G>T	ENSP00000465570:p.Ser6218Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S5291Y	ENST00000591111.1	37	c.15872		2	.	.	.	.	.	.	.	.	.	.	G	7.084	0.570727	0.13560	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70894	0.3276	L	0.48935	1.535	0.80722	D	1	B	0.30793	0.295	B	0.41332	0.354	T	0.70026	-0.4985	9	0.87932	D	0	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	6218	Q8WZ42	TITIN_HUMAN	Y	5291	ENSP00000343764:S5291Y	ENSP00000343764:S5291Y	S	-	2	0	TTN	179301192	1.000000	0.71417	0.807000	0.32361	0.548000	0.35241	6.456000	0.73501	2.894000	0.99253	0.591000	0.81541	TCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	24	0	G	NM_133378		179592947	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.991	T	T	179592947	G	T	179592947	3	4	21	1	0	0	0	0	1	0	0	0	16784	942	33	3	85109	3	TTN	2	179592947	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8930725	179592947	63606426	71	5458											
TTN	7273	genome.wustl.edu	37	chr2	179658217	179658217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttgttccttggctttatCggcggccactactaccttag	5	16	8	12	2	1	0	0	0	1	0	3	0	2	0	3	3	2	2	3	3	4	9			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:179658217C>T	ENST00000591111.1	-	9	1674	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	TTN_ENST00000460472.2_Missense_Mutation_p.D484N|TTN_ENST00000589042.1_Missense_Mutation_p.D484N|TTN_ENST00000360870.5_Missense_Mutation_p.D484N|TTN_ENST00000359218.5_Missense_Mutation_p.D484N|TTN_ENST00000342175.6_Missense_Mutation_p.D484N|TTN_ENST00000342992.6_Missense_Mutation_p.D484N			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGCTTTATCGGCGGCCACT	0.398																																																	0													280	277	278					2																	179658217		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1450G>A	2.37:g.179658217C>T	ENSP00000465570:p.Asp484Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D484N	ENST00000591111.1	37	c.1450		2	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578155	0.45902	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.61	5.61	0.85477	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.65964	0.2742	M	0.67953	2.075	0.23632	N	0.99724	B;B;B;B;P	0.47106	0.224;0.224;0.224;0.224;0.89	B;B;B;B;B	0.44224	0.089;0.089;0.121;0.089;0.444	T	0.65010	-0.6272	9	0.87932	D	0	.	14.9885	0.71368	0.0:0.8567:0.1433:0.0	.	484;484;484;484;484	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	484;484;484;484;484;484;80	ENSP00000343764:D484N;ENSP00000434586:D484N;ENSP00000340554:D484N;ENSP00000352154:D484N;ENSP00000354117:D484N;ENSP00000405517:D80N	ENSP00000340554:D484N	D	-	1	0	TTN	179366462	0.999000	0.42202	1.000000	0.80357	0.870000	0.49936	3.343000	0.52167	2.791000	0.96007	0.650000	0.86243	GAT	TTN	-	pfam_Titin_Z,superfamily_RNaseH-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	59	0	C	NM_133378		179658217	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.86	61	9	SNP	1.000	T	T	179658217	C	T	179658217	3	4	21	1	0	0	0	0	1	0	0	0	16784	884	31	1	109954	1	TTN	2	179658217	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	65270	179658217	63541156	72	5459											
CCDC141	285025	genome.wustl.edu	37	chr2	179730512	179730512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcatttatctcgtctctCatggcgcagtactccacact	8	13	5	15	2	4	0	2	0	2	0	7	0	5	0	2	1	1	2	2	1	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:179730512C>G	ENST00000420890.2	-	17	2823	c.2706G>C	c.(2704-2706)atG>atC	p.M902I	CCDC141_ENST00000295723.5_Missense_Mutation_p.M327I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	902										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCGTCTCTCATGGCGCAGT	0.522																																																	0													364	327	339					2																	179730512		2203	4300	6503	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2706G>C	2.37:g.179730512C>G	ENSP00000395995:p.Met902Ile		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.M902I	ENST00000420890.2	37	c.2706		2	.	.	.	.	.	.	.	.	.	.	C	6.570	0.473540	0.12521	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.39592	1.07;1.39;1.39;1.62	6.07	-12.1	0.00011	.	1.564530	0.03402	N	0.203481	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05733	-1.0867	10	0.22706	T	0.39	3.4315	3.7058	0.08400	0.1131:0.3873:0.2599:0.2397	.	327	Q6ZP82	CC141_HUMAN	I	902;346;327;902	ENSP00000395995:M902I;ENSP00000344627:M346I;ENSP00000295723:M327I;ENSP00000390190:M902I	ENSP00000295723:M327I	M	-	3	0	CCDC141	179438757	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.689000	0.05144	-2.082000	0.00868	-1.835000	0.00590	ATG	CCDC141	-	NULL	ENSG00000163492		0.522	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding		-	0	111	0	C	NM_173648		179730512	-1	tier1	-	no_errors	ENST00000420890	ensembl	human	known	74_37	missense	17.78	74	16	SNP	0.000	G	G	179730512	C	G	179730512	3	3	21	1	0	0	0	0	1	0	0	0	2782	826	29	5	1674	5	CCDC141	2	179730512	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	72295	179730512	63468861	73	5460											
SLC40A1	30061	genome.wustl.edu	37	chr2	190428330	190428330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgattctagcagcaatgacgCctgcaaacagcagactgaca	14	6	9	12	2	1	3	0	2	1	1	1	4	1	3	1	0	5	4	1	0	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:190428330C>T	ENST00000261024.2	-	7	1808	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	461					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AGCAATGACGCCTGCAAACAG	0.358																																																	0													63	65	65					2																	190428330		2203	4300	6503	SO:0001583	missense	0			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"Solute carriers"	10909	protein-coding gene	gene with protein product	"ferroportin 1"	604653	"solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.1382G>A	2.37:g.190428330C>T	ENSP00000261024:p.Gly461Asp		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	p.G461D	ENST00000261024.2	37	c.1382	CCDS2299.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.397144	0.96009	.	.	ENSG00000138449	ENST00000261024	D	0.95690	-3.78	6.02	6.02	0.97574	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.98102	0.9374	M	0.86953	2.85	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	D	0.98095	1.0411	10	0.66056	D	0.02	-20.1984	20.5373	0.99239	0.0:1.0:0.0:0.0	.	461	Q9NP59	S40A1_HUMAN	D	461	ENSP00000261024:G461D	ENSP00000261024:G461D	G	-	2	0	SLC40A1	190136575	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	7.804000	0.85993	2.857000	0.98124	0.650000	0.86243	GGC	SLC40A1	-	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	ENSG00000138449		0.358	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2		0	39	0	C			190428330	-1			no_errors	ENST00000261024	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	190428330	C	T	190428330	3	4	21	1	0	0	0	0	1	0	0	0	14673	739	26	3	341	3	SLC40A1	2	190428330	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	10697818	190428330	52771043	74	5461											
BZW1	9689	genome.wustl.edu	37	chr2	201682946	201682946	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagataaattcttcttttagGaactctttcctgccaataag	12	15	5	9	0	3	1	0	0	3	1	4	2	4	2	2	1	2	0	2	1	6	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:201682946G>C	ENST00000409600.1	+	8	1104	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q	BZW1_ENST00000409226.1_Splice_Site_p.E221Q|BZW1_ENST00000452790.2_Splice_Site_p.E249Q	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTTCTTTTAGGAACTCTTTCC	0.313																																																	0													23	21	22					2																	201682946		1789	4055	5844	SO:0001630	splice_region_variant	0			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.649-1G>C	2.37:g.201682946G>C			B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.E217Q	ENST00000409600.1	37	c.649	CCDS56156.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030358	0.75504	.	.	ENSG00000082153	ENST00000410110;ENST00000409600;ENST00000431249;ENST00000409226;ENST00000452790	T;T;T;T	0.79141	0.77;-1.22;-1.22;-1.24	5.76	5.76	0.90799	.	0.151934	0.64402	D	0.000019	D	0.89146	0.6632	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;P;D	0.68621	0.959;0.889;0.925	D	0.88376	0.2998	9	.	.	.	-7.915	20.3273	0.98706	0.0:0.0:1.0:0.0	.	221;249;217	B4DWF7;B4DLZ8;Q7L1Q6	.;.;BZW1_HUMAN	Q	217;217;133;221;249	ENSP00000387086:E217Q;ENSP00000386474:E217Q;ENSP00000386837:E221Q;ENSP00000394316:E249Q	.	E	+	1	0	BZW1	201391191	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.703000	0.98714	2.881000	0.98747	0.643000	0.83706	GAA	BZW1	-	NULL	ENSG00000082153		0.313	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1	-	0	34	0	G	NM_014670	Missense_Mutation	201682946	1	tier1	-	no_errors	ENST00000409600	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	C	C	201682946	G	C	201682946	5	2	21	1	0	0	0	0	0	0	1	0	1582	1188	41	5	675	5	BZW1	2	201682946	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	11254616	201682946	41516427	75	5462											
NIF3L1	60491	genome.wustl.edu	37	chr2	201761925	201761925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcgcttagcccttggggtgGggagaaccttaggtaaatat	9	12	13	7	1	0	1	0	0	0	1	1	2	0	1	2	5	2	2	2	5	6	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:201761925G>T	ENST00000409020.1	+	5	1147	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W	NIF3L1_ENST00000409357.1_Missense_Mutation_p.G285W|NIF3L1_ENST00000359683.4_Missense_Mutation_p.G258W|NIF3L1_ENST00000409588.1_Intron|RNU6-762P_ENST00000517107.1_RNA|NIF3L1_ENST00000416651.1_Missense_Mutation_p.G285W			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	285					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.G285W(1)|p.G258W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CCTTGGGGTGGGGAGAACCTT	0.403																																																	2	Substitution - Missense(2)	lung(2)											114	105	108					2																	201761925		1885	4118	6003	SO:0001583	missense	0			AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1", "NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.853G>T	2.37:g.201761925G>T	ENSP00000386394:p.Gly285Trp		Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3	p.G285W	ENST00000409020.1	37	c.853	CCDS46485.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.212773|4.212773	0.79352|0.79352	.|.	.|.	ENSG00000196290|ENSG00000196290	ENST00000416651;ENST00000409020;ENST00000359683;ENST00000409357|ENST00000436412	T;T;T;T|.	0.51817|.	0.69;0.69;0.69;0.69|.	6.01|6.01	5.12|5.12	0.69794|0.69794	.|.	0.208163|.	0.51477|.	D|.	0.000090|.	D|D	0.84156|0.84156	0.5410|0.5410	M|M	0.90425|0.90425	3.115|3.115	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.76494|.	0.999|.	D|.	0.79784|.	0.993|.	D|D	0.87563|0.87563	0.2473|0.2473	10|5	0.87932|.	D|.	0|.	-6.0384|-6.0384	17.0922|17.0922	0.86625|0.86625	0.0:0.1269:0.8731:0.0|0.0:0.1269:0.8731:0.0	.|.	285|.	Q9GZT8|.	NIF3L_HUMAN|.	W|C	285;285;258;285|43	ENSP00000400787:G285W;ENSP00000386394:G285W;ENSP00000352711:G258W;ENSP00000387315:G285W|.	ENSP00000352711:G258W|.	G|W	+|+	1|3	0|0	NIF3L1|NIF3L1	201470170|201470170	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.979000|0.979000	0.70002|0.70002	5.178000|5.178000	0.65037|0.65037	1.507000|1.507000	0.48752|0.48752	0.655000|0.655000	0.94253|0.94253	GGG|TGG	NIF3L1	-	pfam_Interacting_NIF3,superfamily_Interacting_NIF3,pirsf_UCP037490_NIF3_euk,tigrfam_Interacting_NIF3	ENSG00000196290		0.403	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NIF3L1	HGNC	protein_coding	OTTHUMT00000336201.1		0	12	0	G	NM_021824		201761925	1			no_errors	ENST00000409020	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.998	T	T	201761925	G	T	201761925	3	4	21	1	0	0	0	0	1	0	0	0	10455	1232	43	3	867	3	NIF3L1	2	201761925	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	78979	201761925	41437448	76	5463											
SPEG	10290	genome.wustl.edu	37	chr2	220357321	220357321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgcctggcaggagccGgccctccctgcaggactgcc	4	6	14	17	1	1	0	0	0	1	0	2	2	2	2	5	5	4	3	5	5	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:220357321G>T	ENST00000312358.7	+	41	9749	c.9617G>T	c.(9616-9618)cGg>cTg	p.R3206L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	3206	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R3206Q(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCAGGAGCCGGCCCTCCCTG	0.657																																																	1	Substitution - Missense(1)	lung(1)											48	54	52					2																	220357321		1988	4140	6128	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.9617G>T	2.37:g.220357321G>T	ENSP00000311684:p.Arg3206Leu		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R3206L	ENST00000312358.7	37	c.9617	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.644897	0.96704	.	.	ENSG00000072195	ENST00000312358	T	0.80653	-1.4	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35615	N	0.003082	D	0.93815	0.8022	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96226	0.9164	10	0.87932	D	0	.	18.0348	0.89296	0.0:0.0:1.0:0.0	.	3206	Q15772	SPEG_HUMAN	L	3206	ENSP00000311684:R3206L	ENSP00000311684:R3206L	R	+	2	0	SPEG	220065565	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.711000	0.98735	2.361000	0.80049	0.591000	0.81541	CGG	SPEG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000072195		0.657	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2		0	52	0	G	NM_005876		220357321	1			no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	5.88	32	2	SNP	1.000	T	T	220357321	G	T	220357321	3	4	21	1	0	0	0	0	1	0	0	0	15083	1116	39	2	9791	2	SPEG	2	220357321	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	18595396	220357321	22842052	77	5464											
NCL	4691	genome.wustl.edu	37	chr2	232327928	232327928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcttctccactgctatCatcttcttcatcttctgaca	7	17	2	15	0	8	1	2	1	6	0	9	1	8	1	2	0	2	1	2	0	2	6	rs375715628		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:232327928C>T	ENST00000322723.4	-	2	358	c.118G>A	c.(118-120)Gat>Aat	p.D40N	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	40					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCACTGCTATCATCTTCTTCA	0.378																																																	0								C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	303	269	281		118	3.6	0.7	2		281	0,8600		0,0,4300	no	missense	NCL	NM_005381.2	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	40/711	232327928	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.118G>A	2.37:g.232327928C>T	ENSP00000318195:p.Asp40Asn		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.D40N	ENST00000322723.4	37	c.118	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851746	0.51270	4.54E-4	0.0	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.67345	3.0;-0.26;-0.26;3.04;1.94	3.6	3.6	0.41247	.	1.206810	0.06068	N	0.659686	T	0.62938	0.2469	L	0.34521	1.04	0.35625	D	0.809766	B	0.20780	0.048	B	0.25405	0.06	T	0.56456	-0.7976	10	0.72032	D	0.01	-2.4598	15.5647	0.76281	0.0:1.0:0.0:0.0	.	40	P19338	NUCL_HUMAN	N	40;40;40;24;24;24;24	ENSP00000318195:D40N;ENSP00000401620:D24N;ENSP00000392747:D24N;ENSP00000413775:D24N;ENSP00000401322:D24N	ENSP00000318195:D40N	D	-	1	0	NCL	232036172	0.985000	0.35326	0.717000	0.30585	0.506000	0.33950	2.966000	0.49208	2.335000	0.79485	0.650000	0.86243	GAT	NCL	-	NULL	ENSG00000115053		0.378	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	-	0	69	0	C	NM_005381		232327928	-1	tier1	-	no_errors	ENST00000322723	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	T	T	232327928	C	T	232327928	3	4	21	1	0	0	0	0	1	0	0	0	10265	826	29	3	2066	3	NCL	2	232327928	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	11970607	232327928	10871445	78	5465											
USP40	55230	genome.wustl.edu	37	chr2	234429703	234429703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggcataaatttttaacGtggagccagtcaatctcatt	13	13	7	8	1	2	0	2	0	1	0	3	1	2	1	1	2	3	1	1	2	5	5	rs148095295	byFrequency	TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:234429703G>T	ENST00000427112.2	-	16	2291	c.2256C>A	c.(2254-2256)caC>caA	p.H752Q	USP40_ENST00000450966.1_Missense_Mutation_p.H764Q|USP40_ENST00000251722.6_Missense_Mutation_p.H752Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	752					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AATTTTTAACGTGGAGCCAGT	0.343																																																	0													107	99	101					2																	234429703		1824	4069	5893	SO:0001583	missense	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.2256C>A	2.37:g.234429703G>T	ENSP00000387898:p.His752Gln		Q6NX38|Q70EL0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.H764Q	ENST00000427112.2	37	c.2292	CCDS46547.1	2	.	.	.	.	.	.	.	.	.	.	G	0.457	-0.890991	0.02491	.	.	ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112;ENST00000452724	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.43	-3.13	0.05266	.	2.555070	0.01075	N	0.004887	T	0.06645	0.0170	N	0.00146	-1.995	0.22156	N	0.999324	B;B	0.09022	0.001;0.002	B;B	0.01281	0.0;0.0	T	0.40905	-0.9538	10	0.02654	T	1	.	2.4575	0.04533	0.1199:0.3004:0.1148:0.4648	.	752;764	Q9NVE5;Q9NVE5-3	UBP40_HUMAN;.	Q	764;752;752;47	ENSP00000415434:H764Q;ENSP00000251722:H752Q;ENSP00000387898:H752Q;ENSP00000408853:H47Q	ENSP00000251722:H752Q	H	-	3	2	USP40	234094442	0.962000	0.33011	0.960000	0.40013	0.805000	0.45488	-0.239000	0.08965	-0.451000	0.07097	-2.110000	0.00354	CAC	USP40	-	NULL	ENSG00000085982		0.343	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	-	0	29	0	G	XM_114294		234429703	-1	tier1	-	no_errors	ENST00000450966	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.930	T	T	234429703	G	T	234429703	3	4	21	1	0	0	0	0	1	0	0	0	17121	1136	40	2	1515	2	USP40	2	234429703	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2101775	234429703	8769670	79	5466											
COL6A3	1293	genome.wustl.edu	37	chr2	238253225	238253225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtttggatgtcagaGccacctgaaggttcttaatc	8	14	10	9	0	3	2	1	1	2	1	4	3	3	3	2	2	2	3	2	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:238253225G>T	ENST00000295550.4	-	36	7888	c.7436C>A	c.(7435-7437)gCt>gAt	p.A2479D	COL6A3_ENST00000347401.3_Missense_Mutation_p.A2278D|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2273D|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2273D|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2279D|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1872D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2479	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGATGTCAGAGCCACCTGAAG	0.517																																																	0													80	73	75					2																	238253225		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7436C>A	2.37:g.238253225G>T	ENSP00000295550:p.Ala2479Asp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.A2479D	ENST00000295550.4	37	c.7436	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	8.746	0.920195	0.17982	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	4.77	4.77	0.60923	von Willebrand factor, type A (3);	0.956269	0.08596	N	0.922236	T	0.21841	0.0526	N	0.22421	0.69	0.09310	N	1	B;B;B;D	0.65815	0.029;0.351;0.023;0.995	B;B;B;D	0.65010	0.11;0.172;0.045;0.931	T	0.22487	-1.0215	10	0.14656	T	0.56	.	13.1951	0.59734	0.0:0.0:0.8407:0.1593	.	1872;1872;2273;2479	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	D	2479;2278;2273;1872;2273;2279	ENSP00000295550:A2479D;ENSP00000315609:A2278D;ENSP00000315873:A2273D;ENSP00000418285:A1872D;ENSP00000386844:A2273D;ENSP00000295546:A2279D	ENSP00000295550:A2479D	A	-	2	0	COL6A3	237917964	0.004000	0.15560	0.004000	0.12327	0.852000	0.48524	1.656000	0.37355	2.339000	0.79563	0.655000	0.94253	GCT	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	33	0	G	NM_004369		238253225	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.004	T	T	238253225	G	T	238253225	3	4	21	1	0	0	0	0	1	0	0	0	3708	971	34	3	2133	3	COL6A3	2	238253225	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3823522	238253225	4946148	80	5467											
TRAF3IP1	26146	genome.wustl.edu	37	chr2	239257449	239257449	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataagtctgaggtgccaGagactccagaaattcctaat	15	9	9	8	0	1	4	0	1	1	3	3	5	3	4	3	1	1	0	3	1	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:239257449G>T	ENST00000373327.4	+	11	1549	c.1327G>T	c.(1327-1329)Gag>Tag	p.E443*	TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.E443*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.E377*	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	443	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TGAGGTGCCAGAGACTCCAGA	0.438																																																	0													127	130	129					2																	239257449		2203	4300	6503	SO:0001587	stop_gained	0			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1327G>T	2.37:g.239257449G>T	ENSP00000362424:p.Glu443*		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Nonsense_Mutation	SNP	NULL	p.E443*	ENST00000373327.4	37	c.1327	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.776944	0.97829	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	.	.	.	4.94	4.07	0.47477	.	0.335345	0.30547	N	0.009396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-37.218	9.2566	0.37586	0.1003:0.0:0.8997:0.0	.	.	.	.	X	377;443;443;377	.	ENSP00000362424:E443X	E	+	1	0	TRAF3IP1	238922188	0.985000	0.35326	0.061000	0.19648	0.004000	0.04260	4.477000	0.60223	1.086000	0.41228	0.650000	0.86243	GAG	TRAF3IP1	-	NULL	ENSG00000204104		0.438	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	-	0	55	0	G	NM_015650		239257449	1	tier1	-	no_errors	ENST00000373327	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.280	T	T	239257449	G	T	239257449	4	4	21	1	0	0	0	0	0	1	0	0	16488	943	33	3	1369	3	TRAF3IP1	2	239257449	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1004224	239257449	3941924	81	5468											
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	11	0	16	14	6	0	0	0	0	0	0	0	6	0	3	4	4	4	1	4	4	2	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L|HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	63	0	G	NM_006037		240016733	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.191	T	T	240016733	G	T	240016733	3	4	21	1	0	0	0	0	1	0	0	0	7036	1049	37	2	1060	2	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	759284	240016733	3182640	82	5469											
TATDN2	9797	genome.wustl.edu	37	chr3	10290925	10290925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaagcacaactggagcaGcacgtcggaagggtgtcccc	10	5	14	12	2	1	0	1	0	0	0	3	2	2	2	2	4	4	3	2	4	3	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:10290925G>T	ENST00000287652.4	+	2	1092	c.41G>T	c.(40-42)aGc>aTc	p.S14I	TATDN2_ENST00000448281.2_Missense_Mutation_p.S14I|RP11-438J1.1_ENST00000450534.1_5'Flank	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	14					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AACTGGAGCAGCACGTCGGAA	0.677																																																	0													48	49	49					3																	10290925		2203	4298	6501	SO:0001583	missense	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.41G>T	3.37:g.10290925G>T	ENSP00000287652:p.Ser14Ile		Q3MIL9|Q5BKU0	Missense_Mutation	SNP	pfam_TatD_family	p.S14I	ENST00000287652.4	37	c.41	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523853	0.64747	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.30714	1.52;1.52	3.55	3.55	0.40652	.	.	.	.	.	T	0.33556	0.0867	L	0.54323	1.7	0.36207	D	0.85111	P	0.51791	0.948	P	0.46144	0.505	T	0.50110	-0.8866	9	0.87932	D	0	-12.0939	10.833	0.46671	0.0:0.0:1.0:0.0	.	14	Q93075	TATD2_HUMAN	I	14	ENSP00000287652:S14I;ENSP00000408736:S14I	ENSP00000287652:S14I	S	+	2	0	TATDN2	10265925	0.992000	0.36948	0.996000	0.52242	0.995000	0.86356	1.560000	0.36331	1.987000	0.57996	0.563000	0.77884	AGC	TATDN2	-	NULL	ENSG00000157014		0.677	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	-	0	57	0	G	XM_376203		10290925	1	tier1	-	no_errors	ENST00000287652	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.993	T	T	10290925	G	T	10290925	3	4	21	1	0	0	0	0	1	0	0	0	15639	971	34	3	43	3	TATDN2	3	10290925	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		10290925	187731505	83	5470											
KCNH8	131096	genome.wustl.edu	37	chr3	19491739	19491739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccaacaactcaagcagaGgatgctcgaatattttcaaa	15	8	7	11	1	2	1	2	0	0	1	3	3	2	2	2	1	4	2	2	1	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:19491739G>T	ENST00000328405.2	+	9	1783	c.1517G>T	c.(1516-1518)aGg>aTg	p.R506M	KCNH8_ENST00000537696.1_Missense_Mutation_p.R175M	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	506					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCAAGCAGAGGATGCTCGAA	0.408																																					NSCLC(124;1625 1765 8018 24930 42026)												0													171	154	160					3																	19491739		2203	4300	6503	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1517G>T	3.37:g.19491739G>T	ENSP00000328813:p.Arg506Met		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.R506M	ENST00000328405.2	37	c.1517	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.289449	0.95517	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.97455	-4.39;1.79	6.02	6.02	0.97574	Cyclic nucleotide-binding-like (1);	0.000000	0.34959	U	0.003550	D	0.98924	0.9635	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.988	D	0.99120	1.0849	9	.	.	.	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	175;506;506	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	M	506;175	ENSP00000328813:R506M;ENSP00000446294:R175M	.	R	+	2	0	KCNH8	19466743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.857000	0.98124	0.650000	0.86243	AGG	KCNH8	-	superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_ERG	ENSG00000183960		0.408	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	-	0	47	0	G	NM_144633		19491739	1	tier1	-	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	19491739	G	T	19491739	3	4	21	1	0	0	0	0	1	0	0	0	8065	1000	35	3	1551	3	KCNH8	3	19491739	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9200814	19491739	178530691	84	5471											
ZNF860	344787	genome.wustl.edu	37	chr3	32031299	32031299	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagcctttaattgtagctCactcttaaggaaacatcaga	15	11	6	9	0	3	1	2	0	1	1	3	2	3	2	1	1	3	2	1	1	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:32031299C>G	ENST00000360311.4	+	2	1277	c.728C>G	c.(727-729)tCa>tGa	p.S243*		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AATTGTAGCTCACTCTTAAGG	0.348																																																	0													77	59	65					3																	32031299		692	1591	2283	SO:0001587	stop_gained	0			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"Zinc fingers, C2H2-type", "-"	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.728C>G	3.37:g.32031299C>G	ENSP00000373274:p.Ser243*		B4DFA4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S243*	ENST00000360311.4	37	c.728	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924217	0.92319	.	.	ENSG00000197385	ENST00000360311	.	.	.	0.345	-0.691	0.11305	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5418	0.12061	0.0:0.6806:0.0:0.3194	.	.	.	.	X	243	.	.	S	+	2	0	ZNF860	32006303	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.174000	0.16743	-0.519000	0.06444	-0.515000	0.04445	TCA	ZNF860	-	pfscan_Znf_C2H2	ENSG00000197385		0.348	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	-	0	80	0	C			32031299	1	tier1	-	no_errors	ENST00000360311	ensembl	human	known	74_37	nonsense	45.92	53	45	SNP	0.003	G	G	32031299	C	G	32031299	4	3	21	1	0	0	0	0	0	1	0	0	18242	838	29	5	730	5	ZNF860	3	32031299	Nonsense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	12539560	32031299	165991131	85	5472											
CLASP2	23122	genome.wustl.edu	37	chr3	33592770	33592770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatcagaacttttgggttCtgttgtccaagtgatgaccc	10	13	9	9	0	2	3	1	2	1	1	3	3	3	3	2	1	2	2	2	1	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:33592770C>G	ENST00000468888.2	-	30	3197	c.3151G>C	c.(3151-3153)Gaa>Caa	p.E1051Q	CLASP2_ENST00000399362.4_Missense_Mutation_p.E1050Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E830Q|CLASP2_ENST00000359576.5_Missense_Mutation_p.E1042Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E532Q|CLASP2_ENST00000539981.1_Missense_Mutation_p.E820Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E810Q			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	831	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTTTTGGGTTCTGTTGTCCAA	0.388																																																	0													101	97	98					3																	33592770		1826	4076	5902	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3151G>C	3.37:g.33592770C>G	ENSP00000419974:p.Glu1051Gln		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E1050Q	ENST00000468888.2	37	c.3148		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.57|18.57	3.652001|3.652001	0.67472|0.67472	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133|ENST00000480385	T;T;T;T;T;T;T|.	0.66638|.	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22|.	5.27|5.27	5.27|5.27	0.74061|0.74061	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73837|0.73837	0.3638|0.3638	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	B;D;B|.	0.67145|.	0.004;0.996;0.279|.	B;D;B|.	0.78314|.	0.015;0.991;0.128|.	T|T	0.72646|0.72646	-0.4230|-0.4230	10|5	0.72032|.	D|.	0.01|.	-25.0587|-25.0587	17.4201|17.4201	0.87512|0.87512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	831;1042;1050|.	O75122;F5H604;E7ERI8|.	CLAP2_HUMAN;.;.|.	Q|T	1051;1050;1042;532;820;830;810|106	ENSP00000419974:E1051Q;ENSP00000382297:E1050Q;ENSP00000352581:E1042Q;ENSP00000304743:E532Q;ENSP00000439039:E820Q;ENSP00000417518:E830Q;ENSP00000419305:E810Q|.	ENSP00000304743:E532Q|.	E|R	-|-	1|2	0|0	CLASP2|CLASP2	33567774|33567774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.770000|7.770000	0.85390|0.85390	2.606000|2.606000	0.88127|0.88127	0.591000|0.591000	0.81541|0.81541	GAA|AGA	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.388	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4	-	0	25	0	C	NM_001207044		33592770	-1	tier1	-	no_errors	ENST00000399362	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	G	G	33592770	C	G	33592770	3	3	21	1	0	0	0	0	1	0	0	0	3462	922	32	5	1433	5	CLASP2	3	33592770	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1561471	33592770	164429660	86	5473											
PDCD6IP	10015	genome.wustl.edu	37	chr3	33870405	33870405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccaatgctgagtaccatCagtctatcctggcaaaacag	13	8	9	11	0	2	1	1	1	1	0	3	1	3	1	3	2	3	3	3	2	5	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:33870405C>T	ENST00000307296.3	+	7	1155	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	PDCD6IP_ENST00000457054.2_Nonsense_Mutation_p.Q265*			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	260	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TGAGTACCATCAGTCTATCCT	0.423																																																	0													115	112	113					3																	33870405		2203	4300	6503	SO:0001587	stop_gained	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.778C>T	3.37:g.33870405C>T	ENSP00000307387:p.Gln260*		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Nonsense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.Q265*	ENST00000307296.3	37	c.793	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.268024	0.95429	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.4248	19.0901	0.93224	0.0:1.0:0.0:0.0	.	.	.	.	X	260;265	.	ENSP00000307387:Q260X	Q	+	1	0	PDCD6IP	33845409	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.772000	0.85439	2.586000	0.87340	0.655000	0.94253	CAG	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000170248		0.423	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	-	0	46	0	C			33870405	1	tier1	-	no_errors	ENST00000457054	ensembl	human	known	74_37	nonsense	24.19	47	15	SNP	1.000	T	T	33870405	C	T	33870405	4	4	21	1	0	0	0	0	0	1	0	0	11663	827	29	3	819	3	PDCD6IP	3	33870405	Nonsense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	277635	33870405	164152025	87	5474											
CDC25A	993	genome.wustl.edu	37	chr3	48222299	48222299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagccacgagatacaGgtcttactggcttcttaaac	11	9	10	11	1	2	1	0	0	2	1	2	2	2	1	1	3	4	3	1	3	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:48222299G>T	ENST00000302506.3	-	6	869	c.461C>A	c.(460-462)cCt>cAt	p.P154H	CDC25A_ENST00000351231.3_Intron|RNU7-128P_ENST00000517247.1_RNA	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	154					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACGAGATACAGGTCTTACTGG	0.507																																																	0													132	124	127					3																	48222299		2203	4300	6503	SO:0001583	missense	0			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.461C>A	3.37:g.48222299G>T	ENSP00000303706:p.Pro154His		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.P154H	ENST00000302506.3	37	c.461	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246317	0.59103	.	.	ENSG00000164045	ENST00000302506;ENST00000443342	T;T	0.29655	1.56;1.56	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.81497	2.545	0.80722	D	1	B	0.28470	0.213	B	0.35688	0.208	T	0.43048	-0.9415	10	0.87932	D	0	.	15.854	0.78960	0.0:0.0:1.0:0.0	.	154	P30304	MPIP1_HUMAN	H	154;153	ENSP00000303706:P154H;ENSP00000416483:P153H	ENSP00000303706:P154H	P	-	2	0	CDC25A	48197303	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.318000	0.65829	2.826000	0.97356	0.655000	0.94253	CCT	CDC25A	-	pfam_MPI_Phosphatase	ENSG00000164045		0.507	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2	-	0	32	0	G	NM_001789		48222299	-1	tier1	-	no_errors	ENST00000302506	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T	T	48222299	G	T	48222299	3	4	21	1	0	0	0	0	1	0	0	0	3069	1000	35	3	1153	3	CDC25A	3	48222299	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	14351894	48222299	149800131	88	5475											
IP6K2	51447	genome.wustl.edu	37	chr3	48726145	48726145	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttgaagccctgcaccGatagcttccgtccatggtac	7	10	8	16	2	0	1	0	1	0	0	3	2	3	1	6	1	4	3	6	1	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:48726145G>T	ENST00000328631.5	-	6	1065	c.842C>A	c.(841-843)tCg>tAg	p.S281*	NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	281					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GCCCTGCACCGATAGCTTCCG	0.572																																																	0													113	103	106					3																	48726145		2203	4300	6503	SO:0001587	stop_gained	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.842C>A	3.37:g.48726145G>T	ENSP00000331103:p.Ser281*		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Nonsense_Mutation	SNP	pfam_IPK	p.S281*	ENST00000328631.5	37	c.842	CCDS2777.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.859145	0.97036	.	.	ENSG00000068745	ENST00000328631	.	.	.	5.75	4.88	0.63580	.	0.060518	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5176	14.9703	0.71229	0.0684:0.0:0.9316:0.0	.	.	.	.	X	281	.	ENSP00000331103:S281X	S	-	2	0	IP6K2	48701149	1.000000	0.71417	0.756000	0.31282	0.903000	0.53119	9.869000	0.99810	1.442000	0.47568	0.655000	0.94253	TCG	IP6K2	-	pfam_IPK	ENSG00000068745		0.572	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2		0	61	0	G	NM_016291		48726145	-1			no_errors	ENST00000328631	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.997	T	T	48726145	G	T	48726145	4	4	21	1	0	0	0	0	0	1	0	0	7816	1059	37	2	442	2	IP6K2	3	48726145	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	503846	48726145	149296285	89	5476											
DAG1	1605	genome.wustl.edu	37	chr3	49569266	49569268	+	In_Frame_Del	DEL	CCA	CCA	-																															agcaacgccttcaactgactCcaccaccaccacgactcgca																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:49569266_49569268delCCA	ENST00000539901.1	+	3	1880_1882	c.1322_1324delCCA	c.(1321-1326)tccacc>tcc	p.T446del	DAG1_ENST00000308775.2_In_Frame_Del_p.T446del|DAG1_ENST00000545947.1_In_Frame_Del_p.T446del|DAG1_ENST00000538711.1_In_Frame_Del_p.T446del|DAG1_ENST00000515359.2_In_Frame_Del_p.T446del|DAG1_ENST00000541308.1_In_Frame_Del_p.T446del	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	446	Mucin-like domain.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCAACTGACTCCACCACCACCAC	0.581																																																	0									,,,,,,,,,,,,	4,4262		1,2,2130					,,,,,,,,,,,,	5.4	1			182	4,8250		2,0,4125	no	coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding,coding	DAG1	NM_004393.4,NM_001177644.1,NM_001177643.1,NM_001177642.1,NM_001177641.1,NM_001177640.1,NM_001177639.1,NM_001177638.1,NM_001177637.1,NM_001177636.1,NM_001177635.1,NM_001177634.1,NM_001165928.2	,,,,,,,,,,,,	3,2,6255	A1A1,A1R,RR		0.0485,0.0938,0.0639	,,,,,,,,,,,,	,,,,,,,,,,,,		8,12512				SO:0001651	inframe_deletion	0			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1322_1324delCCA	3.37:g.49569275_49569277delCCA	ENSP00000439334:p.Thr446del		A8K6M7|Q969J9	In_Frame_Del	DEL	pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg	p.T445in_frame_del	ENST00000539901.1	37	c.1322_1324	CCDS2799.1	3																																																																																			DAG1	-	NULL	ENSG00000173402		0.581	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1		0	53	0	CCA			49569268	1	tier1		no_errors	ENST00000308775	ensembl	human	known	74_37	in_frame_del	9.68	28	3	DEL	0.969:0.477:0.479	-	-	49569268	CCA	-	49569266	7	5	21	1	0	1	0	1	0	0	0	0	4234	855	30	0	1328	0	DAG1	3	49569266	In_Frame_Del	DEL	CCA	TCGA-IG-A4P3-01A-11D-A27G-09	843121	49569266	148453164	90	5477											
RBM5	10181	genome.wustl.edu	37	chr3	50147857	50147857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagtacacaggccccaGccgcttcccctactggtgta	9	7	9	16	1	0	0	0	0	0	0	1	0	1	0	5	2	3	4	5	2	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:50147857G>T	ENST00000347869.3	+	16	1499	c.1324G>T	c.(1324-1326)Gcc>Tcc	p.A442S	RBM5_ENST00000441812.2_Intron	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	442	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAGGCCCCAGCCGCTTCCCC	0.458																																																	0													54	58	57					3																	50147857		2203	4300	6503	SO:0001583	missense	0			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1324G>T	3.37:g.50147857G>T	ENSP00000343054:p.Ala442Ser		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.A442S	ENST00000347869.3	37	c.1324	CCDS2810.1	3	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730797	0.48939	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.15952	2.38	6.01	4.96	0.65561	.	0.401606	0.28047	N	0.016815	T	0.13628	0.0330	L	0.43923	1.385	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.07065	-1.0792	10	0.14252	T	0.57	-12.9566	10.445	0.44488	0.1111:0.0:0.7593:0.1296	.	132;442	Q59HE6;P52756	.;RBM5_HUMAN	S	442;441;132	ENSP00000343054:A442S	ENSP00000343054:A442S	A	+	1	0	RBM5	50122861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.484000	0.45242	2.861000	0.98227	0.650000	0.86243	GCC	RBM5	-	NULL	ENSG00000003756		0.458	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3	-	0	58	0	G	NM_005778		50147857	1	tier1	-	no_errors	ENST00000347869	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.993	T	T	50147857	G	T	50147857	3	4	21	1	0	0	0	0	1	0	0	0	13188	971	34	3	1382	3	RBM5	3	50147857	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	578591	50147857	147874573	91	5478											
ROBO1	6091	genome.wustl.edu	37	chr3	78689030	78689030	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcggcaggttcactGatgttgagaagtccaggcct	7	9	15	10	2	1	2	1	2	0	1	2	3	2	2	2	4	1	4	2	4	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:78689030G>T	ENST00000464233.1	-	22	3014	c.2901C>A	c.(2899-2901)atC>atA	p.I967I	ROBO1_ENST00000436010.2_Silent_p.I928I|ROBO1_ENST00000495273.1_Silent_p.I922I|ROBO1_ENST00000467549.1_Silent_p.I922I	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	967					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGGTTCACTGATGTTGAGAA	0.408																																																	0													45	42	43					3																	78689030		1907	4124	6031	SO:0001819	synonymous_variant	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2901C>A	3.37:g.78689030G>T			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I967	ENST00000464233.1	37	c.2901	CCDS54611.1	3																																																																																			ROBO1	-	NULL	ENSG00000169855		0.408	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	36	0	G	NM_002941		78689030	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	silent	19.57	37	9	SNP	1.000	T	T	78689030	G	T	78689030	2	4	21	1	0	0	0	0	0	0	0	1	13558	1280	45	3		3	ROBO1	3	78689030	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	28541173	78689030	119333400	92	5479											
STX19	415117	genome.wustl.edu	37	chr3	93733383	93733383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatattgttgatgctctctCcttgttcctctactaaaaga	10	16	5	10	0	2	2	0	1	2	1	5	2	4	2	2	0	2	3	2	0	5	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:93733383C>G	ENST00000315099.2	-	2	987	c.731G>C	c.(730-732)gGa>gCa	p.G244A	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	244	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						GATGCTCTCTCCTTGTTCCTC	0.313																																																	0													70	68	69					3																	93733383		2202	4298	6500	SO:0001583	missense	0			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.731G>C	3.37:g.93733383C>G	ENSP00000320679:p.Gly244Ala			Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.G244A	ENST00000315099.2	37	c.731	CCDS33793.1	3	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628021	0.46944	.	.	ENSG00000178750	ENST00000315099	T	0.35236	1.32	4.71	4.71	0.59529	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64153	-0.6474	10	0.45353	T	0.12	.	18.5999	0.91246	0.0:1.0:0.0:0.0	.	244	Q8N4C7	STX19_HUMAN	A	244	ENSP00000320679:G244A	ENSP00000320679:G244A	G	-	2	0	STX19	95216073	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	7.252000	0.78309	2.573000	0.86826	0.650000	0.86243	GGA	STX19	-	pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000178750		0.313	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX19	HGNC	protein_coding	OTTHUMT00000352909.1		0	32	0	C	NM_001001850		93733383	-1			no_errors	ENST00000315099	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	G	G	93733383	C	G	93733383	3	3	21	1	0	0	0	0	1	0	0	0	15389	855	30	5	157	5	STX19	3	93733383	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	15044353	93733383	104289047	93	5480											
MYH15	22989	genome.wustl.edu	37	chr3	108129652	108129652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagagcggaccttccCgaggtcagacagggcgtccc	7	6	14	14	3	1	2	1	0	0	2	3	4	3	3	3	3	3	2	3	3	0	1	rs368421301		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:108129652C>T	ENST00000273353.3	-	32	4389	c.4333G>A	c.(4333-4335)Ggg>Agg	p.G1445R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1445						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGACCTTCCCGAGGTCAGAC	0.652																																																	0								C	ARG/GLY	1,4075		0,1,2037	36	38	37		4333	4.4	0	3		37	0,8364		0,0,4182	no	missense	MYH15	NM_014981.1	125	0,1,6219	TT,TC,CC		0.0,0.0245,0.0080	probably-damaging	1445/1947	108129652	1,12439	2038	4182	6220	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4333G>A	3.37:g.108129652C>T	ENSP00000273353:p.Gly1445Arg			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.G1445R	ENST00000273353.3	37	c.4333	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023788	0.35701	2.45E-4	0.0	ENSG00000144821	ENST00000273353	T	0.77489	-1.1	5.31	4.44	0.53790	Myosin tail (1);	.	.	.	.	T	0.72244	0.3436	L	0.46157	1.445	0.40512	D	0.980743	B	0.25312	0.123	B	0.22601	0.04	T	0.72023	-0.4415	9	0.87932	D	0	.	13.9592	0.64168	0.0:0.9268:0.0:0.0732	.	1445	Q9Y2K3	MYH15_HUMAN	R	1445	ENSP00000273353:G1445R	ENSP00000273353:G1445R	G	-	1	0	MYH15	109612342	0.903000	0.30736	0.005000	0.12908	0.138000	0.21146	1.977000	0.40589	1.248000	0.43934	0.561000	0.74099	GGG	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.652	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1		0	10	0	C	XM_036988		108129652	-1			no_errors	ENST00000273353	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.964	T	T	108129652	C	T	108129652	3	4	21	1	0	0	0	0	1	0	0	0	10072	652	23	1	1551	1	MYH15	3	108129652	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	14396269	108129652	89892778	94	5481											
GRAMD1C	54762	genome.wustl.edu	37	chr3	113619947	113619947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgagctaggtttaaatgctGaggagatggaaaacttgtca	13	11	12	5	0	1	3	1	2	0	1	1	5	1	4	0	3	3	3	0	3	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:113619947G>C	ENST00000358160.4	+	7	1102	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E37Q	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	204						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTTAAATGCTGAGGAGATGGA	0.393																																																	0													107	100	102					3																	113619947		2203	4300	6503	SO:0001583	missense	0				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.610G>C	3.37:g.113619947G>C	ENSP00000350881:p.Glu204Gln		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E204Q	ENST00000358160.4	37	c.610	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829304	0.71258	.	.	ENSG00000178075	ENST00000358160;ENST00000472026	T;T	0.56776	1.19;0.44	5.97	4.16	0.48862	.	0.125094	0.51477	D	0.000090	T	0.62036	0.2395	M	0.68593	2.085	0.80722	D	1	D;P	0.63046	0.992;0.931	P;B	0.54544	0.755;0.274	T	0.65323	-0.6196	10	0.52906	T	0.07	.	12.0605	0.53561	0.1444:0.0:0.8556:0.0	.	37;204	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	Q	204;37	ENSP00000350881:E204Q;ENSP00000419132:E37Q	ENSP00000350881:E204Q	E	+	1	0	GRAMD1C	115102637	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.035000	0.57297	1.523000	0.49018	0.650000	0.86243	GAG	GRAMD1C	-	NULL	ENSG00000178075		0.393	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1		0	24	0	G	NM_017577		113619947	1			no_errors	ENST00000358160	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	C	C	113619947	G	C	113619947	3	2	21	1	0	0	0	0	1	0	0	0	6776	1291	45	5	636	5	GRAMD1C	3	113619947	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5490295	113619947	84402483	95	5482											
B4GALT4	8702	genome.wustl.edu	37	chr3	118948751	118948751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttcttcgtggatgcttCattagtcagagtttttccct	6	18	7	10	1	3	1	2	0	1	1	5	2	4	2	2	1	2	2	2	1	2	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:118948751C>T	ENST00000483209.1	-	3	837	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	B4GALT4_ENST00000393765.2_Missense_Mutation_p.E66K|B4GALT4_ENST00000359213.3_Missense_Mutation_p.E66K|B4GALT4_ENST00000471675.1_Missense_Mutation_p.E19K|B4GALT4_ENST00000467604.1_Missense_Mutation_p.E66K|B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	66					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GTGGATGCTTCATTAGTCAGA	0.413																																																	0													141	131	134					3																	118948751		2203	4300	6503	SO:0001583	missense	0			AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"Beta 4-glycosyltransferases"	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.196G>A	3.37:g.118948751C>T	ENSP00000420161:p.Glu66Lys		Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.E66K	ENST00000483209.1	37	c.196	CCDS2986.1	3	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641861	0.29157	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000471675;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150	T;T;T;T;T;T	0.57907	0.76;0.37;0.76;0.76;1.56;0.99	5.16	0.703	0.18116	.	1.365360	0.04178	N	0.325956	T	0.44953	0.1318	L	0.59436	1.845	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22347	-1.0219	10	0.06757	T	0.87	-2.0729	7.0954	0.25307	0.0:0.5875:0.2825:0.1299	.	66	O60513	B4GT4_HUMAN	K	66;66;19;66;66;66;66	ENSP00000420161:E66K;ENSP00000417226:E66K;ENSP00000352144:E66K;ENSP00000377360:E66K;ENSP00000417188:E66K;ENSP00000417958:E66K	ENSP00000352144:E66K	E	-	1	0	B4GALT4	120431441	0.002000	0.14202	0.000000	0.03702	0.105000	0.19272	0.298000	0.19120	0.223000	0.20920	0.491000	0.48974	GAA	B4GALT4	-	NULL	ENSG00000121578		0.413	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT4	HGNC	protein_coding	OTTHUMT00000354925.2	-	0	73	0	C	NM_003778		118948751	-1	tier1	-	no_errors	ENST00000359213	ensembl	human	known	74_37	missense	11.36	78	10	SNP	0.000	T	T	118948751	C	T	118948751	3	4	21	1	0	0	0	0	1	0	0	0	1274	835	29	3	862	3	B4GALT4	3	118948751	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	5328804	118948751	79073679	96	5483											
KPNA1	3836	genome.wustl.edu	37	chr3	122180154	122180154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgataacttcatcaatagGagggttaggttctgtttccc	9	14	10	8	0	3	1	2	1	1	0	4	2	4	2	1	3	1	4	1	3	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:122180154G>T	ENST00000344337.6	-	5	525	c.349C>A	c.(349-351)Cct>Act	p.P117T	KPNA1_ENST00000466923.1_5'Flank	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	117					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCATCAATAGGAGGGTTAGGT	0.378																																					Melanoma(12;340 801 11196 19797)												0													69	70	70					3																	122180154		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.349C>A	3.37:g.122180154G>T	ENSP00000343701:p.Pro117Thr		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.P117T	ENST00000344337.6	37	c.349	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614906	0.87359	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.94101	3.495	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	D	0.88933	0.3374	10	0.87932	D	0	-12.5199	18.0465	0.89334	0.0:0.0:1.0:0.0	.	117	P52294	IMA1_HUMAN	T	117	ENSP00000343701:P117T;ENSP00000419890:P117T;ENSP00000417166:P117T;ENSP00000417319:P117T;ENSP00000419257:P117T	ENSP00000343701:P117T	P	-	1	0	KPNA1	123662844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.569000	0.98170	2.805000	0.96524	0.655000	0.94253	CCT	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1		0	25	0	G	NM_002264		122180154	-1			no_errors	ENST00000344337	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	122180154	G	T	122180154	3	4	21	1	0	0	0	0	1	0	0	0	8456	1174	41	3	1307	3	KPNA1	3	122180154	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3231403	122180154	75842276	97	5484											
DTX3L	151636	genome.wustl.edu	37	chr3	122284880	122284880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatatgcatcaacatgaagGacatattcctaatgctgtgg	13	12	9	7	0	1	2	1	2	0	0	2	3	2	3	1	2	3	2	1	2	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:122284880G>T	ENST00000296161.4	+	2	551	c.362G>T	c.(361-363)gGa>gTa	p.G121V	PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000471785.1_5'Flank|PARP9_ENST00000477522.2_5'Flank|PARP9_ENST00000360356.2_5'Flank|DTX3L_ENST00000383661.3_Missense_Mutation_p.G121V|PARP9_ENST00000462315.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	121					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CAACATGAAGGACATATTCCT	0.453																																																	0													96	83	88					3																	122284880		2203	4300	6503	SO:0001583	missense	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.362G>T	3.37:g.122284880G>T	ENSP00000296161:p.Gly121Val		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G121V	ENST00000296161.4	37	c.362	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998747	0.35226	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.32272	1.46;2.08	4.9	2.83	0.33086	.	0.729351	0.11778	N	0.530433	T	0.27967	0.0689	L	0.38175	1.15	0.19945	N	0.999945	P;P	0.50272	0.899;0.933	P;P	0.48227	0.571;0.564	T	0.12451	-1.0547	10	0.56958	D	0.05	-23.2411	4.1532	0.10247	0.4679:0.0:0.5321:0.0	.	121;121	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	V	121	ENSP00000296161:G121V;ENSP00000373157:G121V	ENSP00000296161:G121V	G	+	2	0	DTX3L	123767570	0.001000	0.12720	0.000000	0.03702	0.008000	0.06430	0.468000	0.22051	0.472000	0.27344	0.643000	0.83706	GGA	DTX3L	-	NULL	ENSG00000163840		0.453	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1		0	25	0	G	NM_138287		122284880	1			no_errors	ENST00000296161	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.001	T	T	122284880	G	T	122284880	3	4	21	1	0	0	0	0	1	0	0	0	4810	1174	41	3	368	3	DTX3L	3	122284880	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	104726	122284880	75737550	98	5485											
KALRN	8997	genome.wustl.edu	37	chr3	124438117	124438117	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcaatgtgatcttacagGaagattttcggaggcggccc	10	11	11	9	2	3	2	2	1	1	1	4	4	3	4	1	4	1	0	1	4	3	3	rs184120997		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:124438117G>T	ENST00000291478.5	+	27	3833	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.E1192*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.E2921*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2920					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E2921*(1)|p.E1224*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GATCTTACAGGAAGATTTTCG	0.522																																																	2	Substitution - Nonsense(2)	endometrium(2)											58	58	58					3																	124438117		2203	4300	6503	SO:0001587	stop_gained	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3670G>T	3.37:g.124438117G>T	ENSP00000291478:p.Glu1224*		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E2921*	ENST00000291478.5	37	c.8761	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.883624|8.883624	0.98990|0.98990	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.063439|.	0.64402|.	D|.	0.000005|.	.|T	.|0.75583	.|0.3869	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72640	.|-0.4232	.|4	0.05525|.	T|.	0.97|.	.|.	19.6296|19.6296	0.95694|0.95694	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	2921;1224;1192|2889	.|.	ENSP00000291478:E1224X|.	E|R	+|+	1|3	0|2	KALRN|KALRN	125920807|125920807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	3.352000|3.352000	0.52239|0.52239	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAA|AGG	KALRN	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160145		0.522	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5		0	22	0	G	NM_003947		124438117	1			no_errors	ENST00000360013	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	1.000	T	T	124438117	G	T	124438117	4	4	21	1	0	0	0	0	0	1	0	0	8002	1175	41	3	9155	3	KALRN	3	124438117	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2153237	124438117	73584313	99	5486											
COL6A5	256076	genome.wustl.edu	37	chr3	130110053	130110053	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attacactactagacgttgtGtttgtgctggatcattcagg	9	15	10	7	1	2	1	2	0	0	1	2	2	2	2	0	2	3	3	0	2	3	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:130110053G>T	ENST00000432398.2	+	7	2942	c.2448G>T	c.(2446-2448)gtG>gtT	p.V816V	COL6A5_ENST00000265379.6_Silent_p.V816V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	816	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TAGACGTTGTGTTTGTGCTGG	0.403																																																	0													74	59	64					3																	130110053		692	1591	2283	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2448G>T	3.37:g.130110053G>T			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V816	ENST00000432398.2	37	c.2448		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	34	0	G	NM_153264		130110053	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	130110053	G	T	130110053	2	4	21	1	0	0	0	0	0	0	0	1	3709	1364	48	3		3	COL6A5	3	130110053	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5671936	130110053	67912377	100	5487											
RYK	6259	genome.wustl.edu	37	chr3	133910826	133910826	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtaggataacctaaggaGccaacaaagccaaaccaagc	19	3	9	10	0	0	0	0	0	0	0	0	2	0	2	4	3	6	1	4	3	8	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:133910826G>T	ENST00000427044.2	-	9	925	c.315C>A	c.(313-315)agC>agA	p.S105R	RYK_ENST00000296084.4_Splice_Site_p.S295R			P34925	RYK_HUMAN	receptor-like tyrosine kinase	294	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						AACCTAAGGAGCCAACAAAGC	0.428																																																	0													69	64	65					3																	133910826		1858	4104	5962	SO:0001630	splice_region_variant	0			S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase"	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.314-1C>A	3.37:g.133910826G>T			Q04696	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S105R	ENST00000427044.2	37	c.315		3	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033021	0.54896	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	T;T	0.79141	1.99;-1.24	6.02	6.02	0.97574	.	0.513188	0.17321	U	0.178520	T	0.73976	0.3656	L	0.29908	0.895	0.58432	D	0.999999	D	0.53151	0.958	P	0.45506	0.483	T	0.71573	-0.4552	9	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	294	P34925-2	.	R	295;105	ENSP00000296084:S295R;ENSP00000399527:S105R	.	S	-	3	2	RYK	135393516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.832000	0.48152	2.865000	0.98341	0.655000	0.94253	AGC	RYK	-	NULL	ENSG00000163785		0.428	RYK-202	KNOWN	basic|appris_principal	protein_coding	RYK	HGNC	protein_coding		-	0	50	0	G	NM_001005861	Missense_Mutation	133910826	-1	tier1	-	no_errors	ENST00000427044	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	133910826	G	T	133910826	5	4	21	1	0	0	0	0	0	0	1	0	13812	985	34	3	973	3	RYK	3	133910826	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3800773	133910826	64111604	101	5488											
EPHB1	2047	genome.wustl.edu	37	chr3	134880869	134880869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttcttttaggaacacaatGagttcaactcctccatggcc	10	13	6	12	0	2	1	1	1	1	0	4	2	4	2	3	2	2	1	3	2	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:134880869G>C	ENST00000398015.3	+	7	1802	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	EPHB1_ENST00000493838.1_Missense_Mutation_p.E39Q	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	478	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGAACACAATGAGTTCAACTC	0.542																																																	0													89	94	92					3																	134880869		2065	4207	6272	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1432G>C	3.37:g.134880869G>C	ENSP00000381097:p.Glu478Gln		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E478Q	ENST00000398015.3	37	c.1432	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748316	0.69533	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.58358	0.34;0.34	5.54	5.54	0.83059	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.121832	0.52532	D	0.000068	T	0.60366	0.2263	M	0.82630	2.6	0.80722	D	1	B	0.21225	0.053	B	0.19148	0.024	T	0.58651	-0.7599	10	0.42905	T	0.14	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	478	P54762	EPHB1_HUMAN	Q	478;39	ENSP00000381097:E478Q;ENSP00000419574:E39Q	ENSP00000381097:E478Q	E	+	1	0	EPHB1	136363559	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	9.293000	0.96082	2.884000	0.98904	0.655000	0.94253	GAG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154928		0.542	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	48	0	G	NM_004441		134880869	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	13.10	73	11	SNP	1.000	C	C	134880869	G	C	134880869	3	2	21	1	0	0	0	0	1	0	0	0	5190	1291	45	5	1458	5	EPHB1	3	134880869	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	970043	134880869	63141561	102	5489											
NCK1	4690	genome.wustl.edu	37	chr3	136664643	136664643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggcgtggtagctacAatggacaagttggatggttc	8	11	17	5	1	0	0	0	0	0	0	1	2	0	2	0	7	2	4	0	7	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:136664643A>C	ENST00000481752.1	+	3	609	c.445A>C	c.(445-447)Aat>Cat	p.N149H	NCK1_ENST00000469404.1_Missense_Mutation_p.N85H|NCK1_ENST00000288986.2_Missense_Mutation_p.N149H			P16333	NCK1_HUMAN	NCK adaptor protein 1	149	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|response to other organism (GO:0051707)|signal complex assembly (GO:0007172)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|protein kinase inhibitor activity (GO:0004860)|receptor binding (GO:0005102)|receptor signaling complex scaffold activity (GO:0030159)|receptor tyrosine kinase binding (GO:0030971)			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGGTAGCTACAATGGACAAGT	0.453																																																	0													270	261	264					3																	136664643		2203	4300	6503	SO:0001583	missense	0			X17576	CCDS3092.1, CCDS54644.1	3q21	2013-02-14			ENSG00000158092	ENSG00000158092		"SH2 domain containing"	7664	protein-coding gene	gene with protein product		600508		NCK		7806213, 9737977	Standard	XM_005247498		Approved	NCKalpha	uc003erh.3	P16333	OTTHUMG00000159781	ENST00000481752.1:c.445A>C	3.37:g.136664643A>C	ENSP00000417273:p.Asn149His		B7Z751|D3DNE3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.N149H	ENST00000481752.1	37	c.445	CCDS3092.1	3	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290888	0.80914	.	.	ENSG00000158092	ENST00000288986;ENST00000481752;ENST00000469404	T;T;T	0.49139	0.79;0.79;0.79	6.16	6.16	0.99307	Src homology-3 domain (5);	0.088101	0.85682	D	0.000000	T	0.42108	0.1188	L	0.28649	0.875	0.58432	D	0.999999	B;B	0.27140	0.024;0.169	B;B	0.34242	0.141;0.178	T	0.30621	-0.9972	10	0.42905	T	0.14	-20.7963	14.7581	0.69583	1.0:0.0:0.0:0.0	.	85;149	B7Z751;P16333	.;NCK1_HUMAN	H	149;149;85	ENSP00000288986:N149H;ENSP00000417273:N149H;ENSP00000419631:N85H	ENSP00000288986:N149H	N	+	1	0	NCK1	138147333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	2.367000	0.80283	0.528000	0.53228	AAT	NCK1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain	ENSG00000158092		0.453	NCK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCK1	HGNC	protein_coding	OTTHUMT00000357307.1	-	0	92	0	A	NM_006153		136664643	1	tier1	-	no_errors	ENST00000288986	ensembl	human	known	74_37	missense	14.17	109	18	SNP	1.000	C	C	136664643	A	C	136664643	3	2	21	1	0	0	0	0	1	0	0	0	10258	130	5	4	451	4	NCK1	3	136664643	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	1783774	136664643	61357787	103	5490											
TRIM42	287015	genome.wustl.edu	37	chr3	140401907	140401907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgcaccttctgcaagttCtctttccacaatggccacga	8	12	6	15	1	3	0	0	0	3	0	5	1	4	0	3	1	2	3	3	1	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:140401907C>G	ENST00000286349.3	+	2	1136	c.945C>G	c.(943-945)ttC>ttG	p.F315L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	315						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTGCAAGTTCTCTTTCCACA	0.562																																																	0													255	219	231					3																	140401907		2203	4300	6503	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.945C>G	3.37:g.140401907C>G	ENSP00000286349:p.Phe315Leu		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.F315L	ENST00000286349.3	37	c.945	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.484091	0.01027	.	.	ENSG00000155890	ENST00000286349	T	0.38887	1.11	5.46	-3.37	0.04898	Zinc finger, B-box (2);	1.038480	0.07593	N	0.922284	T	0.17746	0.0426	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	10	0.02654	T	1	-26.6273	9.8838	0.41249	0.0:0.2227:0.6128:0.1646	.	315	Q8IWZ5	TRI42_HUMAN	L	315	ENSP00000286349:F315L	ENSP00000286349:F315L	F	+	3	2	TRIM42	141884597	0.000000	0.05858	0.000000	0.03702	0.373000	0.29922	-1.545000	0.02190	-0.640000	0.05495	-0.305000	0.09177	TTC	TRIM42	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000155890		0.562	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0	43	0	C	NM_152616		140401907	1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.000	G	G	140401907	C	G	140401907	3	3	21	1	0	0	0	0	1	0	0	0	16565	912	32	5	951	5	TRIM42	3	140401907	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3737264	140401907	57620523	104	5491											
SLC25A36	55186	genome.wustl.edu	37	chr3	140675495	140675495	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatggctggagccagtgtCaaccgagtagtgtctcccgg	8	8	13	12	2	2	0	1	0	1	0	3	2	2	1	4	3	2	2	4	3	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:140675495C>G	ENST00000324194.6	+	2	336	c.168C>G	c.(166-168)gtC>gtG	p.V56V	SLC25A36_ENST00000453248.2_Silent_p.V56V|SLC25A36_ENST00000393015.4_3'UTR|SLC25A36_ENST00000507429.1_Silent_p.V56V|SLC25A36_ENST00000446041.2_Silent_p.V56V			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	56					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GAGCCAGTGTCAACCGAGTAG	0.438																																																	0													139	134	136					3																	140675495		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.168C>G	3.37:g.140675495C>G			A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.V56	ENST00000324194.6	37	c.168	CCDS46927.1	3																																																																																			SLC25A36	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000114120		0.438	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	-	0	49	0	C	NM_018155		140675495	1	tier1	-	no_errors	ENST00000324194	ensembl	human	known	74_37	silent	13.25	72	11	SNP	1.000	G	G	140675495	C	G	140675495	2	3	21	1	0	0	0	0	0	0	0	1	14545	813	29	5		5	SLC25A36	3	140675495	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	273588	140675495	57346935	105	5492											
GRK7	131890	genome.wustl.edu	37	chr3	141497256	141497256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggccctgcccgggctgcagGgctgcgcggagctccgccag	3	5	17	16	4	0	0	0	0	0	0	1	1	1	1	4	4	4	4	4	4	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:141497256G>A	ENST00000264952.2	+	1	267	c.130G>A	c.(130-132)Ggc>Agc	p.G44S		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	44					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGGGCTGCAGGGCTGCGCGGA	0.682																																																	0													16	19	18					3																	141497256		2199	4290	6489	SO:0001583	missense	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.130G>A	3.37:g.141497256G>A	ENSP00000264952:p.Gly44Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.G44S	ENST00000264952.2	37	c.130	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	G	6.439	0.449160	0.12223	.	.	ENSG00000114124	ENST00000264952	T	0.02140	4.43	4.5	-5.68	0.02436	Regulator of G protein signalling superfamily (1);	1.180030	0.05806	N	0.613105	T	0.01387	0.0045	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49551	-0.8928	10	0.14656	T	0.56	-0.0532	1.4795	0.02433	0.2283:0.2031:0.3862:0.1824	.	44	Q8WTQ7	GRK7_HUMAN	S	44	ENSP00000264952:G44S	ENSP00000264952:G44S	G	+	1	0	GRK7	142979946	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	-1.622000	0.02042	-0.476000	0.06842	0.655000	0.94253	GGC	GRK7	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000114124		0.682	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1		0	36	0	G	NM_139209		141497256	1			no_errors	ENST00000264952	ensembl	human	known	74_37	missense	12.24	43	6	SNP	0.000	A	A	141497256	G	A	141497256	3	1	21	1	0	0	0	0	1	0	0	0	6821	1232	43	3	132	3	GRK7	3	141497256	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	821761	141497256	56525174	106	5493											
PCOLCE2	26577	genome.wustl.edu	37	chr3	142557648	142557648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaatactttccaattcttCtagcatcgttgacttccccg	9	14	4	14	2	2	1	0	1	2	0	5	1	4	1	3	0	2	2	3	0	4	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:142557648C>T	ENST00000295992.3	-	5	980	c.674G>A	c.(673-675)aGa>aAa	p.R225K	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.R225K	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	225	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCCAATTCTTCTAGCATCGTT	0.373																																																	0													131	117	121					3																	142557648		2203	4300	6503	SO:0001583	missense	0			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.674G>A	3.37:g.142557648C>T	ENSP00000295992:p.Arg225Lys		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.R225K	ENST00000295992.3	37	c.674	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.540127	0.00934	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.27557	1.66;1.66	5.77	2.12	0.27331	CUB (5);	0.527516	0.22801	N	0.055468	T	0.15349	0.0370	N	0.21545	0.675	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.35226	-0.9797	10	0.02654	T	1	-0.0602	9.0077	0.36122	0.0:0.2794:0.0:0.7206	.	225	Q9UKZ9	PCOC2_HUMAN	K	225	ENSP00000295992:R225K;ENSP00000419842:R225K	ENSP00000295992:R225K	R	-	2	0	PCOLCE2	144040338	0.016000	0.18221	0.000000	0.03702	0.167000	0.22549	1.616000	0.36933	0.138000	0.18790	-0.312000	0.09012	AGA	PCOLCE2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000163710		0.373	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	-	0	37	0	C	NM_013363		142557648	-1	tier1	-	no_errors	ENST00000295992	ensembl	human	known	74_37	missense	9.64	75	8	SNP	0.001	T	T	142557648	C	T	142557648	3	4	21	1	0	0	0	0	1	0	0	0	11634	913	32	3	593	3	PCOLCE2	3	142557648	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1060392	142557648	55464782	107	5494											
MED12L	116931	genome.wustl.edu	37	chr3	151105597	151105597	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagcgctattttcccacaGggtctccaggtctctacgaa	9	11	9	12	2	2	1	0	0	2	1	5	2	3	1	2	2	2	1	2	2	4	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:151105597G>T	ENST00000474524.1	+	35	5021		c.e35-1		P2RY12_ENST00000302632.3_5'Flank|MED12L_ENST00000273432.4_Splice_Site	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTTCCCACAGGGTCTCCAGG	0.522																																																	0													80	86	84					3																	151105597		2203	4300	6503	SO:0001630	splice_region_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4984-1G>T	3.37:g.151105597G>T			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Splice_Site	SNP	-	e35-1	ENST00000474524.1	37	c.4984-1	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760029	0.89932	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0715	0.89408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12L	152588287	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.666000	0.83877	2.793000	0.96121	0.655000	0.94253	.	MED12L	-	-	ENSG00000144893		0.522	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	56	0	G	NM_053002	Intron	151105597	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	splice_site	5.19	73	4	SNP	1.000	T	T	151105597	G	T	151105597	5	4	21	1	0	0	0	0	0	0	1	0	9467	1014	35	3	5121	3	MED12L	3	151105597	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8547949	151105597	46916833	108	5495											
SMC4	10051	genome.wustl.edu	37	chr3	160135727	160135727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaaactccctcaaactGaacaagaattaaaggaggta	20	6	8	7	0	1	2	1	1	0	1	2	4	2	4	1	3	3	1	1	3	10	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:160135727G>C	ENST00000357388.3	+	11	2105	c.1654G>C	c.(1654-1656)Gaa>Caa	p.E552Q	SMC4_ENST00000462787.1_Missense_Mutation_p.E552Q|SMC4_ENST00000469762.1_Missense_Mutation_p.E527Q|SMC4_ENST00000344722.5_Missense_Mutation_p.E552Q|SMC4_ENST00000360111.2_Missense_Mutation_p.E552Q|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	552					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CCCTCAAACTGAACAAGAATT	0.378																																																	0													41	43	42					3																	160135727		2201	4298	6499	SO:0001583	missense	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1654G>C	3.37:g.160135727G>C	ENSP00000349961:p.Glu552Gln		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.E552Q	ENST00000357388.3	37	c.1654	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756955	0.69648	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.73	4.85	0.62838	RecF/RecN/SMC (1);	0.139459	0.64402	N	0.000005	D	0.84745	0.5540	M	0.64567	1.98	0.49389	D	0.999785	B;B;B;B	0.17038	0.016;0.001;0.003;0.02	B;B;B;B	0.29077	0.048;0.035;0.028;0.098	T	0.80511	-0.1350	10	0.32370	T	0.25	-15.0375	16.4124	0.83723	0.0:0.136:0.864:0.0	.	552;527;527;552	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	Q	552;552;527;552;552;146	ENSP00000349961:E552Q;ENSP00000353225:E552Q;ENSP00000417964:E527Q;ENSP00000420734:E552Q;ENSP00000341382:E552Q	ENSP00000341382:E552Q	E	+	1	0	SMC4	161618421	1.000000	0.71417	0.010000	0.14722	0.734000	0.41952	6.114000	0.71560	1.378000	0.46305	0.650000	0.86243	GAA	SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000113810		0.378	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1		0	19	0	G			160135727	1			no_errors	ENST00000344722	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.906	C	C	160135727	G	C	160135727	3	2	21	1	0	0	0	0	1	0	0	0	14830	1291	45	5	1692	5	SMC4	3	160135727	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9030130	160135727	37886703	109	5496											
ZBBX	79740	genome.wustl.edu	37	chr3	166958594	166958594	+	Nonsense_Mutation	SNP	G	G	T																															ataatctttaagtactctttGaccacggtagtgtgatgaca																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:166958594G>T	ENST00000392766.2	-	21	2730	c.2390C>A	c.(2389-2391)tCa>tAa	p.S797*	ZBBX_ENST00000307529.5_Nonsense_Mutation_p.S836*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.S836*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.S797*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.S768*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	797						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGTACTCTTTGACCACGGTAG	0.378																																																	0													178	167	171					3																	166958594		1895	4108	6003	SO:0001587	stop_gained	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2390C>A	3.37:g.166958594G>T	ENSP00000376519:p.Ser797*		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	pfam_Znf_B-box	p.S836*	ENST00000392766.2	37	c.2507	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939935	0.92526	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	5.21	2.3	0.28687	.	2.061030	0.02422	N	0.082714	.	.	.	.	.	.	0.21627	N	0.999619	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	6.0375	4.2175	0.10542	0.2001:0.0:0.6218:0.1781	.	.	.	.	X	797;797;836;836;768	.	ENSP00000305065:S836X	S	-	2	0	ZBBX	168441288	0.085000	0.21516	0.001000	0.08648	0.107000	0.19398	1.543000	0.36147	0.375000	0.24679	0.557000	0.71058	TCA	ZBBX	-	NULL	ENSG00000169064		0.378	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3		0	30	0	G	NM_024687		166958594	-1			no_errors	ENST00000307529	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.001	T	T	166958594	G	T	166958594	4	4	21	1	0	0	0	0	0	1	0	0	17565	1294	45	3	16	3	ZBBX	3	166958594	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6822867	166958594	31063836	110	5497	20	2									
ZBBX	79740	genome.wustl.edu	37	chr3	166958600	166958600	+	Missense_Mutation	SNP	G	G	T																															tttaagtactctttgaccacGgtagtgtgatgacatgttgc																								rs200797025		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:166958600G>T	ENST00000392766.2	-	21	2724	c.2384C>A	c.(2383-2385)cCg>cAg	p.P795Q	ZBBX_ENST00000307529.5_Missense_Mutation_p.P834Q|ZBBX_ENST00000455345.2_Missense_Mutation_p.P834Q|ZBBX_ENST00000392767.2_Missense_Mutation_p.P795Q|ZBBX_ENST00000392764.1_Missense_Mutation_p.P766Q	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	795						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTTTGACCACGGTAGTGTGAT	0.378																																																	0													187	176	179					3																	166958600		1905	4118	6023	SO:0001583	missense	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2384C>A	3.37:g.166958600G>T	ENSP00000376519:p.Pro795Gln		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.P834Q	ENST00000392766.2	37	c.2501	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556387	0.27827	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.21	3.29	0.37713	.	0.539313	0.15913	N	0.238530	T	0.57431	0.2053	L	0.44542	1.39	0.09310	N	1	D;D	0.63046	0.989;0.992	P;P	0.62740	0.906;0.862	T	0.44605	-0.9317	10	0.87932	D	0	0.0603	5.9418	0.19198	0.095:0.0:0.7163:0.1887	.	834;795	A8MT70-2;A8MT70	.;ZBBX_HUMAN	Q	795;795;834;834;766	ENSP00000376519:P795Q;ENSP00000376520:P795Q;ENSP00000390232:P834Q;ENSP00000305065:P834Q;ENSP00000376517:P766Q	ENSP00000305065:P834Q	P	-	2	0	ZBBX	168441294	0.006000	0.16342	0.019000	0.16419	0.052000	0.14988	1.212000	0.32394	1.553000	0.49476	0.557000	0.71058	CCG	ZBBX	-	NULL	ENSG00000169064		0.378	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	-	0	33	0	G	NM_024687		166958600	-1	tier1	-	no_errors	ENST00000307529	ensembl	human	known	74_37	missense	7.25	64	5	SNP	0.015	T	T	166958600	G	T	166958600	3	4	21	1	0	0	0	0	1	0	0	0	17565	1116	39	2	22	2	ZBBX	3	166958600	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6	166958600	31063830	111	5498	20	2									
SLC7A14	57709	genome.wustl.edu	37	chr3	170198910	170198910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccccgacacgatgcaGgccaccactggtgtctctgt	9	7	11	14	2	1	0	0	0	1	0	2	3	1	1	4	3	2	1	4	3	1	0	rs375259922		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:170198910G>A	ENST00000231706.5	-	7	1476	c.1161C>T	c.(1159-1161)gcC>gcT	p.A387A	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	387					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACACGATGCAGGCCACCACTG	0.592																																																	0								G		0,4406		0,0,2203	44	38	40		1161	2.4	1	3		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC7A14	NM_020949.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		387/772	170198910	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1161C>T	3.37:g.170198910G>A			B3KV33|Q9HCF9	Silent	SNP	pfam_AA-permease/SLC12A_dom	p.A387	ENST00000231706.5	37	c.1161	CCDS33892.1	3																																																																																			SLC7A14	-	pfam_AA-permease/SLC12A_dom	ENSG00000013293		0.592	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	-	0	19	0	G	NM_020949		170198910	-1	tier1	-	no_errors	ENST00000231706	ensembl	human	known	74_37	silent	28.21	28	11	SNP	1.000	A	A	170198910	G	A	170198910	2	1	21	1	0	0	0	0	0	0	0	1	14741	987	35	3		3	SLC7A14	3	170198910	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3240310	170198910	27823520	112	5499											
PIK3CA	5290	genome.wustl.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61	60	60					3																	178936091		1813	4072	5885	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	66	0	G			178936091	1	tier1	rs104886003	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	18.75	104	24	SNP	1.000	A	A	178936091	G	A	178936091	3	1	21	1	0	0	0	0	1	0	0	0	11952	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8737181	178936091	19086339	113	5500											
LEPREL1	55214	genome.wustl.edu	37	chr3	189838136	189838136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgggatgcggggccccCgaggcgctgggtctcacagc	4	5	19	13	4	1	0	1	0	1	0	2	2	1	1	2	6	2	1	2	6	0	0	rs200731219		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:189838136C>A	ENST00000319332.5	-	1	582	c.385G>T	c.(385-387)Ggg>Tgg	p.G129W	LEPREL1_ENST00000427335.2_Intron|LEPREL1-AS1_ENST00000412203.1_RNA	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	129					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCGGGGCCCCCGAGGCGCTGG	0.711																																																	0								C	,TRP/GLY	1,4371		0,1,2185	10	9	10		,385	4.1	1	3		10	1,8565		0,1,4282	yes	intron,missense	LEPREL1	NM_001134418.1,NM_018192.3	,184	0,2,6467	AA,AC,CC		0.0117,0.0229,0.0155	,probably-damaging	,129/709	189838136	2,12936	2186	4283	6469	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.385G>T	3.37:g.189838136C>A	ENSP00000316881:p.Gly129Trp		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G129W	ENST00000319332.5	37	c.385	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030921	0.75504	2.29E-4	1.17E-4	ENSG00000090530	ENST00000319332	T	0.38240	1.15	5.01	4.1	0.47936	.	0.121527	0.53938	D	0.000047	T	0.54854	0.1884	M	0.66439	2.03	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.53330	-0.8454	9	.	.	.	-20.1107	12.6692	0.56858	0.0:0.8349:0.1651:0.0	.	129	Q8IVL5	P3H2_HUMAN	W	129	ENSP00000316881:G129W	.	G	-	1	0	LEPREL1	191320830	0.992000	0.36948	1.000000	0.80357	0.809000	0.45718	4.305000	0.59110	2.607000	0.88179	0.462000	0.41574	GGG	LEPREL1	-	NULL	ENSG00000090530		0.711	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	-	0	14	0	C	NM_018192		189838136	-1	tier1	rs200731219	no_errors	ENST00000319332	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A	A	189838136	C	A	189838136	3	1	21	1	0	0	0	0	1	0	0	0	8758	652	23	2	1801	2	LEPREL1	3	189838136	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	10902045	189838136	8184294	114	5501											
OPA1	4976	genome.wustl.edu	37	chr3	193335055	193335055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgaaagccttagcttattGaaggacttttttacctcagg	10	15	9	7	0	1	2	1	2	0	0	1	3	1	3	2	2	3	2	2	2	5	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:193335055G>A	ENST00000392438.3	+	4	771	c.537G>A	c.(535-537)ttG>ttA	p.L179L	OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361510.2_Silent_p.L179L|OPA1_ENST00000361150.2_Intron|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000361908.3_Silent_p.L179L|OPA1_ENST00000361828.2_Silent_p.L179L|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000361715.2_Intron	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	179					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTAGCTTATTGAAGGACTTTT	0.338																																																	0													56	59	58					3																	193335055		2202	4298	6500	SO:0001819	synonymous_variant	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.537G>A	3.37:g.193335055G>A			D3DNW4	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.L179	ENST00000392438.3	37	c.537	CCDS43186.1	3																																																																																			OPA1	-	NULL	ENSG00000198836		0.338	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2		0	26	0	G	NM_130837		193335055	1			no_errors	ENST00000361510	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.993	A	A	193335055	G	A	193335055	2	1	21	1	0	0	0	0	0	0	0	1	10910	1281	45	3		3	OPA1	3	193335055	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3496919	193335055	4687375	115	5502											
TNK2	10188	genome.wustl.edu	37	chr3	195595154	195595154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggcagggacccccGcgcccacgagggtgctgttg	4	5	17	15	4	0	0	0	0	0	0	0	2	0	1	4	4	1	3	4	4	0	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr3:195595154G>T	ENST00000333602.6	-	12	2587	c.1970C>A	c.(1969-1971)gCg>gAg	p.A657E	TNK2_ENST00000428187.1_Missense_Mutation_p.A689E|TNK2_ENST00000392400.1_Missense_Mutation_p.A657E|TNK2_ENST00000381916.2_Missense_Mutation_p.A735E	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	657	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGGACCCCCGCGCCCACGAG	0.701																																																	0													17	24	21					3																	195595154		2184	4276	6460	SO:0001583	missense	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1970C>A	3.37:g.195595154G>T	ENSP00000329425:p.Ala657Glu		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.A735E	ENST00000333602.6	37	c.2204	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	G	0.729	-0.780468	0.02929	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.19	3.39	0.38822	.	1.185490	0.05849	N	0.620879	T	0.36110	0.0955	N	0.12182	0.205	0.23016	N	0.998422	B;B;B;B	0.15930	0.004;0.015;0.001;0.015	B;B;B;B	0.11329	0.002;0.006;0.001;0.006	T	0.25467	-1.0131	10	0.15499	T	0.54	.	10.771	0.46323	0.2286:0.0:0.7714:0.0	.	657;735;689;182	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	E	657;735;224;689;657	ENSP00000329425:A657E;ENSP00000371341:A735E;ENSP00000398614:A224E;ENSP00000392546:A689E;ENSP00000376201:A657E	ENSP00000329425:A657E	A	-	2	0	TNK2	197079551	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.479000	0.22228	0.221000	0.20879	-1.120000	0.02017	GCG	TNK2	-	NULL	ENSG00000061938		0.701	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3		0	51	0	G	NM_005781		195595154	-1			no_errors	ENST00000381916	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.012	T	T	195595154	G	T	195595154	3	4	21	1	0	0	0	0	1	0	0	0	16365	1087	38	2	1162	2	TNK2	3	195595154	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2260099	195595154	2427276	116	5503											
HTT	3064	genome.wustl.edu	37	chr4	3189558	3189558	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtacttcaacgctaGaagaacacagtgaagggaaa	17	5	12	7	1	1	3	1	1	0	2	1	5	1	5	0	2	3	2	0	2	7	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:3189558G>T	ENST00000355072.5	+	39	5315	c.5170G>T	c.(5170-5172)Gaa>Taa	p.E1724*		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1724					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCAACGCTAGAAGAACACAG	0.383																																																	0													110	102	105					4																	3189558		1847	4104	5951	SO:0001587	stop_gained	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5170G>T	4.37:g.3189558G>T	ENSP00000347184:p.Glu1724*		Q9UQB7	Nonsense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E1724*	ENST00000355072.5	37	c.5170	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	47	13.304303	0.99733	.	.	ENSG00000197386	ENST00000355072	.	.	.	5.66	4.82	0.62117	.	0.457002	0.25509	N	0.030181	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	10.931	0.47217	0.0702:0.1302:0.7995:0.0	.	.	.	.	X	1724	.	ENSP00000347184:E1724X	E	+	1	0	HTT	3159356	0.963000	0.33076	0.064000	0.19789	0.833000	0.47200	2.939000	0.48995	1.388000	0.46506	0.655000	0.94253	GAA	HTT	-	NULL	ENSG00000197386		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0	36	0	G	NM_002111		3189558	1			no_errors	ENST00000355072	ensembl	human	known	74_37	nonsense	9.68	28	3	SNP	0.903	T	T	3189558	G	T	3189558	4	4	21	1	0	0	0	0	0	1	0	0	7484	943	33	3	5324	3	HTT	4	3189558	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		3189558	187964718	117	5504											
ZNF518B	85460	genome.wustl.edu	37	chr4	10446497	10446497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttttaaatacagatgctaGagaatgaccttttaaggcaa	15	13	8	5	0	0	3	0	1	0	2	0	4	0	3	1	1	2	3	1	1	7	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:10446497G>A	ENST00000326756.3	-	3	1894	c.1456C>T	c.(1456-1458)Cta>Tta	p.L486L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	486					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACAGATGCTAGAGAATGACCT	0.343																																																	0													78	82	81					4																	10446497		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1456C>T	4.37:g.10446497G>A			Q96LN8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L486	ENST00000326756.3	37	c.1456	CCDS33960.1	4																																																																																			ZNF518B	-	NULL	ENSG00000178163		0.343	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1		0	25	0	G	NM_053042		10446497	-1			no_errors	ENST00000326756	ensembl	human	known	74_37	silent	8.33	22	2	SNP	0.094	A	A	10446497	G	A	10446497	2	1	21	1	0	0	0	0	0	0	0	1	18011	933	33	3		3	ZNF518B	4	10446497	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7256939	10446497	180707779	118	5505											
LAP3	51056	genome.wustl.edu	37	chr4	17600162	17600162	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaacccgaaggtcatcctCaatgccgccaccttaacagg	11	9	7	14	2	2	0	2	0	0	0	3	1	3	0	5	2	3	0	5	2	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:17600162C>G	ENST00000226299.4	+	10	1435	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	LAP3_ENST00000606142.1_Silent_p.L356L|LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	387					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						AGGTCATCCTCAATGCCGCCA	0.488																																																	0													195	146	163					4																	17600162		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.1161C>G	4.37:g.17600162C>G			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.L387	ENST00000226299.4	37	c.1161	CCDS3422.1	4																																																																																			LAP3	-	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	ENSG00000002549		0.488	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1		0	51	0	C			17600162	1			no_errors	ENST00000226299	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.967	G	G	17600162	C	G	17600162	2	3	21	1	0	0	0	0	0	0	0	1	8651	813	29	5		5	LAP3	4	17600162	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	7153665	17600162	173554114	119	5506											
NCAPG	64151	genome.wustl.edu	37	chr4	17813843	17813843	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtttcttttgtctttcaGatggatgataagacagtttt	9	18	10	4	0	3	3	1	1	2	2	3	4	3	4	0	2	0	2	0	2	1	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:17813843G>T	ENST00000251496.2	+	2	287		c.e2-1		DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_5'Flank|DCAF16_ENST00000382247.1_5'Flank	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTGTCTTTCAGATGGATGATA	0.368																																																	0													93	88	89					4																	17813843		2203	4300	6503	SO:0001630	splice_region_variant	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.112-1G>T	4.37:g.17813843G>T			Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Splice_Site	SNP	-	e2-1	ENST00000251496.2	37	c.112-1	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047281	0.75846	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2689	0.94000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPG	17422941	1.000000	0.71417	0.951000	0.38953	0.823000	0.46562	9.434000	0.97515	2.546000	0.85860	0.655000	0.94253	.	NCAPG	-	-	ENSG00000109805		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	-	0	43	0	G	NM_022346	Intron	17813843	1	tier1	-	no_errors	ENST00000251496	ensembl	human	known	74_37	splice_site	11.76	45	6	SNP	1.000	T	T	17813843	G	T	17813843	5	4	21	1	0	0	0	0	0	0	1	0	10246	956	33	3	117	3	NCAPG	4	17813843	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	213681	17813843	173340433	120	5507											
RFC1	5981	genome.wustl.edu	37	chr4	39297293	39297293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtttgcctgtagacgaGtgcttccccagccagcttgg	6	12	11	12	1	1	1	1	0	0	1	2	2	2	1	4	1	4	4	4	1	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:39297293G>T	ENST00000381897.1	-	22	3031	c.2898C>A	c.(2896-2898)caC>caA	p.H966Q	RNU6-32P_ENST00000383948.1_RNA|RFC1_ENST00000349703.2_Missense_Mutation_p.H965Q	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	966					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGTAGACGAGTGCTTCCCCA	0.478																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0													116	102	107					4																	39297293		2203	4300	6503	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2898C>A	4.37:g.39297293G>T	ENSP00000371321:p.His966Gln		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.H966Q	ENST00000381897.1	37	c.2898	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238558	0.39598	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.41065	1.01;1.01	5.65	4.81	0.61882	DNA replication factor RFC1, C-terminal (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.759186	0.13348	N	0.394616	T	0.35799	0.0944	L	0.34521	1.04	0.41080	D	0.985518	B;B	0.31705	0.336;0.284	B;B	0.38156	0.266;0.195	T	0.25222	-1.0138	10	0.56958	D	0.05	-0.8281	6.9904	0.24751	0.2903:0.0:0.7097:0.0	.	966;965	P35251;P35251-2	RFC1_HUMAN;.	Q	966;965	ENSP00000371321:H966Q;ENSP00000261424:H965Q	ENSP00000261424:H965Q	H	-	3	2	RFC1	38973688	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	3.316000	0.51960	1.390000	0.46547	0.585000	0.79938	CAC	RFC1	-	pfam_DNA_replication_fac_RFC1_C,superfamily_DNA_pol3_clamp-load_cplx_C,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.478	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	-	0	38	0	G	NM_002913		39297293	-1	tier1	-	no_errors	ENST00000381897	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.994	T	T	39297293	G	T	39297293	3	4	21	1	0	0	0	0	1	0	0	0	13289	1020	36	3	564	3	RFC1	4	39297293	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	21483450	39297293	151856983	121	5508											
ATP8A1	10396	genome.wustl.edu	37	chr4	42505477	42505477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttacttacatcaagagagCcttcatttataacaatcatt	14	16	3	8	0	3	1	3	0	0	1	3	2	3	1	1	0	4	0	1	0	6	8			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:42505477C>A	ENST00000381668.5	-	24	2372	c.2141G>T	c.(2140-2142)gGc>gTc	p.G714V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G699V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	714					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATCAAGAGAGCCTTCATTTAT	0.274																																																	0													61	65	63					4																	42505477		2202	4295	6497	SO:0001583	missense	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2141G>T	4.37:g.42505477C>A	ENSP00000371084:p.Gly714Val		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G714V	ENST00000381668.5	37	c.2141	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714027	0.48622	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.79141	-1.24;-1.24	5.53	4.7	0.59300	HAD-like domain (2);	0.187573	0.47093	D	0.000249	T	0.64416	0.2596	N	0.05351	-0.065	0.80722	D	1	B;B	0.32071	0.355;0.336	B;B	0.40602	0.334;0.158	T	0.65804	-0.6079	10	0.49607	T	0.09	.	10.5614	0.45148	0.0:0.8531:0.0:0.1469	.	699;714	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	V	714;699	ENSP00000371084:G714V;ENSP00000264449:G699V	ENSP00000264449:G699V	G	-	2	0	ATP8A1	42200234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.586000	0.46119	1.365000	0.46057	0.591000	0.81541	GGC	ATP8A1	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.274	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	52	0	C	NM_006095		42505477	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	A	A	42505477	C	A	42505477	3	1	21	1	0	0	0	0	1	0	0	0	1193	739	26	3	1409	3	ATP8A1	4	42505477	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3208184	42505477	148648799	122	5509											
GABRA2	2555	genome.wustl.edu	37	chr4	46252361	46252361	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacaggttctctgtttaaAtatgtagcccagtaaactaa	15	13	6	7	0	1	0	0	0	1	0	2	0	1	0	1	1	3	4	1	1	9	8			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:46252361A>C	ENST00000510861.1	-	10	1493	c.1320T>G	c.(1318-1320)taT>taG	p.Y440*	GABRA2_ENST00000540012.1_Nonsense_Mutation_p.Y445*|GABRA2_ENST00000514090.1_Nonsense_Mutation_p.Y440*|GABRA2_ENST00000356504.1_Nonsense_Mutation_p.Y440*|GABRA2_ENST00000507069.1_Nonsense_Mutation_p.Y500*|GABRA2_ENST00000381620.4_Nonsense_Mutation_p.Y440*			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	440					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCTGTTTAAATATGTAGCCC	0.338																																																	0													83	89	87					4																	46252361		2202	4295	6497	SO:0001587	stop_gained	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1320T>G	4.37:g.46252361A>C	ENSP00000421828:p.Tyr440*		A8K0U7|B7Z1H8|Q59G14	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Y445*	ENST00000510861.1	37	c.1335	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	A	40	8.104145	0.98657	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	.	.	.	5.96	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.51012	D	0.999903	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.09	0.30795	0.8515:0.0:0.1485:0.0	.	.	.	.	X	440;440;440;440;445;500	.	ENSP00000348897:Y440X	Y	-	3	2	GABRA2	45947118	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.193000	0.42658	2.280000	0.76307	0.533000	0.62120	TAT	GABRA2	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000151834		0.338	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0	30	0	A			46252361	-1	tier1	-	no_errors	ENST00000540012	ensembl	human	known	74_37	nonsense	37.21	27	16	SNP	1.000	C	C	46252361	A	C	46252361	4	2	21	1	0	0	0	0	0	1	0	0	6185	108	4	4	39	4	GABRA2	4	46252361	Nonsense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	3746884	46252361	144901915	123	5510											
SGCB	6443	genome.wustl.edu	37	chr4	52895000	52895000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagatattttgagtcctcgGgtcaaaaaactgcatgccga	13	11	9	8	2	1	2	1	1	0	1	3	3	2	2	2	1	3	1	2	1	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:52895000G>T	ENST00000381431.5	-	4	739	c.517C>A	c.(517-519)Ccg>Acg	p.P173T	SGCB_ENST00000535450.1_Missense_Mutation_p.P103T	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	173	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGAGTCCTCGGGTCAAAAAAC	0.363																																																	0													79	78	78					4																	52895000		2203	4300	6503	SO:0001583	missense	0			U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.517C>A	4.37:g.52895000G>T	ENSP00000370839:p.Pro173Thr		B7Z635|O00661	Missense_Mutation	SNP	pfam_Sarcoglycan	p.P173T	ENST00000381431.5	37	c.517	CCDS3488.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323777	0.81580	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94613	-3.47;-3.47	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.95043	0.8395	M	0.73217	2.22	0.80722	D	1	P;P	0.45634	0.863;0.863	P;P	0.48063	0.565;0.565	D	0.94081	0.7344	10	0.33141	T	0.24	-17.4702	18.0782	0.89435	0.0:0.0:1.0:0.0	.	103;173	B7Z635;Q16585	.;SGCB_HUMAN	T	173;103	ENSP00000370839:P173T;ENSP00000441199:P103T	ENSP00000370839:P173T	P	-	1	0	SGCB	52589757	1.000000	0.71417	0.996000	0.52242	0.552000	0.35366	9.869000	0.99810	2.528000	0.85240	0.655000	0.94253	CCG	SGCB	-	pfam_Sarcoglycan	ENSG00000163069		0.363	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCB	HGNC	protein_coding	OTTHUMT00000250596.2	-	0	44	0	G			52895000	-1	tier1	-	no_errors	ENST00000381431	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	52895000	G	T	52895000	3	4	21	1	0	0	0	0	1	0	0	0	14245	1232	43	3	451	3	SGCB	4	52895000	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6642639	52895000	138259276	124	5511											
KIAA1211	57482	genome.wustl.edu	37	chr4	57181632	57181632	+	Frame_Shift_Del	DEL	G	G	-																															cagcgggaaggctaagccccGccaggagtctcccagcagcg																								rs7672073	byFrequency	TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:57181632delG	ENST00000504228.1	+	6	2069	c.1964delG	c.(1963-1965)cgcfs	p.R655fs	KIAA1211_ENST00000264229.6_Frame_Shift_Del_p.R655fs|KIAA1211_ENST00000541073.1_Frame_Shift_Del_p.R648fs			Q6ZU35	K1211_HUMAN	KIAA1211	655			R -> P (in dbSNP:rs7672073). {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4}.					p.R655fs*22(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCTAAGCCCCGCCAGGAGTCT	0.682																																																	1	Deletion - Frameshift(1)	large_intestine(1)											18	23	21					4																	57181632		1934	4105	6039	SO:0001589	frameshift_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1964delG	4.37:g.57181632delG	ENSP00000423366:p.Arg655fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Del	DEL	NULL	p.R655fs	ENST00000504228.1	37	c.1964	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.682	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2		0	32	0	G	NM_020722		57181632	1	tier1		no_errors	ENST00000504228	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.003	-	-	57181632	G	-	57181632	7	5	21	1	0	1	0	1	0	0	0	0	8242	1087	38	0	1982	0	KIAA1211	4	57181632	Frame_Shift_Del	DEL	G	TCGA-IG-A4P3-01A-11D-A27G-09	4286632	57181632	133972644	125	5512											
AASDH	132949	genome.wustl.edu	37	chr4	57215467	57215467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacttagatacacatgctGaggattcaattcgatctccc	12	11	6	12	1	2	2	1	1	1	1	4	4	2	3	1	1	2	1	1	1	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:57215467G>A	ENST00000205214.6	-	11	2630	c.2450C>T	c.(2449-2451)tCa>tTa	p.S817L	AASDH_ENST00000602986.1_Missense_Mutation_p.S664L|AASDH_ENST00000513376.1_Missense_Mutation_p.S717L|AASDH_ENST00000451613.1_Missense_Mutation_p.S817L|AASDH_ENST00000502617.1_Missense_Mutation_p.S817L|AASDH_ENST00000434343.2_Missense_Mutation_p.S332L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	817					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TACACATGCTGAGGATTCAAT	0.363																																																	0													83	83	83					4																	57215467		2203	4300	6503	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2450C>T	4.37:g.57215467G>A	ENSP00000205214:p.Ser817Leu		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.S817L	ENST00000205214.6	37	c.2450	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.277516	0.95459	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.54866	0.89;0.55;0.89;0.55;0.55	5.9	5.9	0.94986	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.94306	3.52	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85943	0.1459	10	0.87932	D	0	-18.2685	20.2789	0.98501	0.0:0.0:1.0:0.0	.	664;817;817;817	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	L	817;717;332;817;664;817	ENSP00000205214:S817L;ENSP00000423760:S717L;ENSP00000392158:S332L;ENSP00000409656:S817L;ENSP00000421171:S817L	ENSP00000205214:S817L	S	-	2	0	AASDH	56910224	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.168000	0.94781	2.788000	0.95919	0.650000	0.86243	TCA	AASDH	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000157426		0.363	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	-	0	34	0	G	NM_181806		57215467	-1	tier1	-	no_errors	ENST00000205214	ensembl	human	known	74_37	missense	15.38	21	4	SNP	1.000	A	A	57215467	G	A	57215467	3	1	21	1	0	0	0	0	1	0	0	0	22	1294	45	3	866	3	AASDH	4	57215467	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	33835	57215467	133938809	126	5513											
LPHN3	23284	genome.wustl.edu	37	chr4	62812670	62812670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcctgtataacaacttgGgtccttatttatccacggag	9	15	8	9	1	0	0	0	0	0	0	3	1	3	1	3	2	2	1	3	2	5	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:62812670G>T	ENST00000514591.1	+	15	2583	c.2254G>T	c.(2254-2256)Ggt>Tgt	p.G752C	LPHN3_ENST00000504896.1_Missense_Mutation_p.G752C|LPHN3_ENST00000509896.1_Missense_Mutation_p.G820C|LPHN3_ENST00000545650.1_Missense_Mutation_p.G752C|LPHN3_ENST00000507164.1_Missense_Mutation_p.G820C|LPHN3_ENST00000506700.1_Missense_Mutation_p.G752C|LPHN3_ENST00000506746.1_Missense_Mutation_p.G820C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G820C|LPHN3_ENST00000511324.1_Missense_Mutation_p.G820C|LPHN3_ENST00000514157.1_Missense_Mutation_p.G752C|LPHN3_ENST00000512091.2_Missense_Mutation_p.G752C|LPHN3_ENST00000506720.1_Missense_Mutation_p.G820C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G752C|LPHN3_ENST00000508946.1_Missense_Mutation_p.G752C|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000508693.1_Missense_Mutation_p.G820C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	739					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TAACAACTTGGGTCCTTATTT	0.393																																																	0													261	243	249					4																	62812670		1877	4117	5994	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2254G>T	4.37:g.62812670G>T	ENSP00000422533:p.Gly752Cys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.G820C	ENST00000514591.1	37	c.2458	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.971556|4.971556	0.92919|0.92919	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.22539|.	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Domain of unknown function DUF3497 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.75064|0.75064	0.3799|0.3799	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.73222|0.73222	-0.4051|-0.4051	10|6	0.87932|.	D|.	0|.	.|.	19.4278|19.4278	0.94751|0.94751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	752;739;752|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	C|V	752;752;820;820;752;752;739;752;820;820;820;752;752;752;820;820;752|209	ENSP00000423388:G752C;ENSP00000422533:G752C;ENSP00000423787:G820C;ENSP00000425033:G820C;ENSP00000424120:G752C;ENSP00000439831:G752C;ENSP00000421476:G820C;ENSP00000424030:G820C;ENSP00000421372:G820C;ENSP00000425201:G752C;ENSP00000423434:G752C;ENSP00000421627:G752C;ENSP00000420931:G820C;ENSP00000425884:G820C;ENSP00000424258:G752C|.	ENSP00000280009:G752C|.	G|G	+|+	1|2	0|0	LPHN3|LPHN3	62495265|62495265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.007000|8.007000	0.88571|0.88571	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	GGT|GGG	LPHN3	-	pfam_DUF3497	ENSG00000150471		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0	98	0	G			62812670	1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	8.94	112	11	SNP	1.000	T	T	62812670	G	T	62812670	3	4	21	1	0	0	0	0	1	0	0	0	8952	1232	43	3	2304	3	LPHN3	4	62812670	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5597203	62812670	128341606	127	5514											
YTHDC1	91746	genome.wustl.edu	37	chr4	69203304	69203304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactacctcagaaccatctgGcgtaggagatttggccctcc	9	10	9	13	1	2	2	1	0	1	2	3	3	3	2	4	3	3	1	4	3	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:69203304G>T	ENST00000344157.4	-	3	780	c.445C>A	c.(445-447)Cca>Aca	p.P149T	YTHDC1_ENST00000355665.3_Missense_Mutation_p.P149T|YTHDC1_ENST00000579690.1_Missense_Mutation_p.P149T	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	149					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GAACCATCTGGCGTAGGAGAT	0.403																																																	0													56	55	55					4																	69203304		2203	4300	6503	SO:0001583	missense	0			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.445C>A	4.37:g.69203304G>T	ENSP00000339245:p.Pro149Thr		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.P149T	ENST00000344157.4	37	c.445	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525798	0.64860	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28666	1.78;1.6	5.57	5.57	0.84162	.	0.111999	0.64402	D	0.000013	T	0.47948	0.1473	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.981	T	0.43130	-0.9410	10	0.56958	D	0.05	.	19.5388	0.95266	0.0:0.0:1.0:0.0	.	149;149	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	T	149	ENSP00000339245:P149T;ENSP00000347888:P149T	ENSP00000339245:P149T	P	-	1	0	YTHDC1	68885899	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.566000	0.67372	2.597000	0.87782	0.585000	0.79938	CCA	YTHDC1	-	NULL	ENSG00000083896		0.403	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1	-	0	60	0	G	NM_133370		69203304	-1	tier1	-	no_errors	ENST00000344157	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	69203304	G	T	69203304	3	4	21	1	0	0	0	0	1	0	0	0	17545	1203	42	3	1798	3	YTHDC1	4	69203304	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6390634	69203304	121950972	128	5515											
CCDC158	339965	genome.wustl.edu	37	chr4	77305497	77305497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcctctttaaggcatttgGcagcttcaagttcatgaact	9	15	8	9	0	3	1	2	1	1	0	4	1	4	1	1	2	2	4	1	2	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:77305497G>T	ENST00000388914.3	-	5	622	c.470C>A	c.(469-471)gCc>gAc	p.A157D	CCDC158_ENST00000434846.2_Missense_Mutation_p.A157D	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	157										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AAGGCATTTGGCAGCTTCAAG	0.388																																																	0													120	110	113					4																	77305497		1898	4130	6028	SO:0001583	missense	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.470C>A	4.37:g.77305497G>T	ENSP00000373566:p.Ala157Asp		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.A157D	ENST00000388914.3	37	c.470	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609305	0.66558	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.35421	1.35;1.31	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000039	T	0.44561	0.1299	N	0.24115	0.695	0.34301	D	0.684311	P;D	0.89917	0.944;1.0	P;D	0.87578	0.714;0.998	T	0.40627	-0.9553	10	0.13470	T	0.59	.	16.792	0.85591	0.0:0.0:1.0:0.0	.	157;157	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	D	157	ENSP00000373566:A157D;ENSP00000401742:A157D	ENSP00000316815:A157D	A	-	2	0	CCDC158	77524521	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	4.480000	0.60243	2.711000	0.92665	0.655000	0.94253	GCC	CCDC158	-	NULL	ENSG00000163749		0.388	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2		0	24	0	G	NM_001042784		77305497	-1			no_errors	ENST00000388914	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	77305497	G	T	77305497	3	4	21	1	0	0	0	0	1	0	0	0	2797	1203	42	3	2951	3	CCDC158	4	77305497	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8102193	77305497	113848779	129	5516											
PKD2	5311	genome.wustl.edu	37	chr4	88957371	88957371	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatctttctgtgttccaGtgacctacggcatgatgagc	7	14	11	9	1	2	3	0	3	2	0	3	4	3	4	2	2	2	2	2	2	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:88957371G>T	ENST00000237596.2	+	3	775		c.e3-1			NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTGTGTTCCAGTGACCTACGG	0.478																																																	1	Unknown(1)	endometrium(1)											166	156	160					4																	88957371		2203	4300	6503	SO:0001630	splice_region_variant	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.710-1G>T	4.37:g.88957371G>T			Q8TB08|Q9P0T6|Q9Y3X8	Splice_Site	SNP	-	e3-1	ENST00000237596.2	37	c.710-1	CCDS3627.1	4	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282606	0.80692	.	.	ENSG00000118762	ENST00000237596	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2257	0.93817	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKD2	89176395	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.753000	0.98904	2.541000	0.85698	0.655000	0.94253	.	PKD2	-	-	ENSG00000118762		0.478	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4		0	19	0	G	NM_000297	Intron	88957371	1			no_errors	ENST00000237596	ensembl	human	known	74_37	splice_site	33.33	6	3	SNP	1.000	T	T	88957371	G	T	88957371	5	4	21	1	0	0	0	0	0	0	1	0	12005	1043	36	3	719	3	PKD2	4	88957371	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	11651874	88957371	102196905	130	5517											
ADH7	131	genome.wustl.edu	37	chr4	100334317	100334317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttggatctcaaaacgtcagGaccgttcgaatgctgaaatg	12	11	10	8	3	2	1	2	1	1	0	4	4	2	3	1	2	2	2	1	2	4	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:100334317G>T	ENST00000209665.4	-	9	1389	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	ADH7_ENST00000482593.1_Silent_p.V314V|ADH7_ENST00000476959.1_Silent_p.V391V|ADH7_ENST00000437033.2_Silent_p.V371V	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	383					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		AAAACGTCAGGACCGTTCGAA	0.378																																																	0													145	135	138					4																	100334317		2203	4300	6503	SO:0001819	synonymous_variant	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.1149C>A	4.37:g.100334317G>T			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.V383	ENST00000209665.4	37	c.1149	CCDS34034.1	4																																																																																			ADH7	-	superfamily_GroES-like	ENSG00000196344		0.378	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		-	0	38	0	G	NM_000673		100334317	-1	tier1	-	no_errors	ENST00000209665	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.992	T	T	100334317	G	T	100334317	2	4	21	1	0	0	0	0	0	0	0	1	313	1161	41	3		3	ADH7	4	100334317	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	11376946	100334317	90819959	131	5518											
H2AFZ	3015	genome.wustl.edu	37	chr4	100870839	100870839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcaagccggctctctgcGagcgggaaaccgcctttgtc	6	8	12	15	4	1	0	0	0	1	0	3	2	1	1	4	2	5	2	4	2	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:100870839G>A	ENST00000296417.5	-	2	279	c.62C>T	c.(61-63)tCg>tTg	p.S21L	RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000507494.1_RNA|DNAJB14_ENST00000442697.2_5'Flank|H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	21					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		GGCTCTCTGCGAGCGGGAAAC	0.567																																																	0													78	87	84					4																	100870839		2203	4300	6503	SO:0001583	missense	0			X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"Histones / Replication-independent"	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.62C>T	4.37:g.100870839G>A	ENSP00000296417:p.Ser21Leu		B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S21L	ENST00000296417.5	37	c.62	CCDS3654.1	4	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784820	0.70222	.	.	ENSG00000164032	ENST00000296417	D	0.88277	-2.36	3.33	3.33	0.38152	Histone-fold (2);Histone core (1);Histone H2A (2);	0.257566	0.40385	N	0.001107	D	0.92838	0.7722	H	0.98370	4.215	0.80722	D	1	B	0.26775	0.159	B	0.16289	0.015	D	0.93652	0.6974	10	0.87932	D	0	-3.4773	14.8277	0.70125	0.0:0.0:1.0:0.0	.	21	P0C0S5	H2AZ_HUMAN	L	21	ENSP00000296417:S21L	ENSP00000296417:S21L	S	-	2	0	H2AFZ	101089862	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	6.585000	0.74062	1.697000	0.51169	0.455000	0.32223	TCG	H2AFZ	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000164032		0.567	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	H2AFZ	HGNC	protein_coding	OTTHUMT00000253695.1	-	0	18	0	G	NM_002106		100870839	-1	tier1	-	no_errors	ENST00000296417	ensembl	human	known	74_37	missense	53.85	6	7	SNP	1.000	A	A	100870839	G	A	100870839	3	1	21	1	0	0	0	0	1	0	0	0	6958	1059	37	1	340	1	H2AFZ	4	100870839	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	536522	100870839	90283437	132	5519											
UBE2D3	7323	genome.wustl.edu	37	chr4	103720628	103720628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtcatctgggtttggatCacatagcagtgaacaaatgg	11	10	14	6	0	3	1	2	1	1	0	3	2	3	2	0	5	2	2	0	5	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:103720628C>G	ENST00000453744.2	-	7	847	c.334G>C	c.(334-336)Gat>Cat	p.D112H	UBE2D3_ENST00000394801.4_Missense_Mutation_p.D112H|UBE2D3_ENST00000357194.6_Missense_Mutation_p.D114H|UBE2D3_ENST00000349311.8_Missense_Mutation_p.D112H|UBE2D3_ENST00000502404.1_Missense_Mutation_p.D83H|UBE2D3_ENST00000350435.7_Missense_Mutation_p.D106H|UBE2D3_ENST00000394803.5_Missense_Mutation_p.D112H|UBE2D3_ENST00000507845.1_Missense_Mutation_p.D83H|UBE2D3_ENST00000504211.1_Missense_Mutation_p.D83H|UBE2D3_ENST00000505207.1_Missense_Mutation_p.D83H|UBE2D3_ENST00000321805.7_Missense_Mutation_p.D112H|UBE2D3_ENST00000343106.5_Missense_Mutation_p.D112H|UBE2D3_ENST00000394804.2_Missense_Mutation_p.D112H|UBE2D3_ENST00000338145.3_Missense_Mutation_p.D112H	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	112					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GGGTTTGGATCACATAGCAGT	0.343																																																	0													58	59	58					4																	103720628		2203	4299	6502	SO:0001583	missense	0			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"Ubiquitin-conjugating enzymes E2"	12476	protein-coding gene	gene with protein product		602963	"ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.334G>C	4.37:g.103720628C>G	ENSP00000396901:p.Asp112His		A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D114H	ENST00000453744.2	37	c.340	CCDS3660.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.336761	0.95758	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.89	5.89	0.94794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.138248	0.64402	D	0.000005	D	0.86255	0.5889	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.994	D;D;D	0.71656	0.963;0.974;0.926	D	0.86525	0.1818	10	0.87932	D	0	.	20.2361	0.98357	0.0:1.0:0.0:0.0	.	114;112;112	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	H	112;112;112;112;112;112;106;112;112;83;114;83;83;83	ENSP00000396901:D112H;ENSP00000378280:D112H;ENSP00000378282:D112H;ENSP00000378283:D112H;ENSP00000345285:D112H;ENSP00000318494:D112H;ENSP00000337262:D106H;ENSP00000337208:D112H;ENSP00000344069:D112H;ENSP00000426620:D83H;ENSP00000349722:D114H;ENSP00000426586:D83H;ENSP00000424359:D83H;ENSP00000421904:D83H	ENSP00000318494:D112H	D	-	1	0	UBE2D3	103939740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.619000	0.83057	2.791000	0.96007	0.591000	0.81541	GAT	UBE2D3	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000109332		0.343	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UBE2D3	HGNC	protein_coding	OTTHUMT00000253791.2	-	0	30	0	C	NM_181893		103720628	-1	tier1	-	no_errors	ENST00000357194	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	G	G	103720628	C	G	103720628	3	3	21	1	0	0	0	0	1	0	0	0	16899	826	29	5	170	5	UBE2D3	4	103720628	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	2849789	103720628	87433648	133	5520											
TBCK	93627	genome.wustl.edu	37	chr4	107229985	107229985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatgggtgatggttttaaGgatttgaaagcgccctaaaa	12	11	14	4	1	0	2	0	2	0	0	0	4	0	4	1	4	1	1	1	4	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:107229985G>T	ENST00000273980.5	-	3	580	c.133C>A	c.(133-135)Ctt>Att	p.L45I	TBCK_ENST00000432496.2_Missense_Mutation_p.L45I|TBCK_ENST00000394706.3_Missense_Mutation_p.L45I|TBCK_ENST00000361687.4_Missense_Mutation_p.L45I|TBCK_ENST00000394708.2_Missense_Mutation_p.L45I					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGGTTTTAAGGATTTGAAAG	0.403																																																	0													139	146	144					4																	107229985		2203	4300	6503	SO:0001583	missense	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.133C>A	4.37:g.107229985G>T	ENSP00000273980:p.Leu45Ile			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom	p.L45I	ENST00000273980.5	37	c.133	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121501	0.77436	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708;ENST00000509532;ENST00000509862;ENST00000507696	T;T;T;T;T;T;T;T	0.70749	2.25;2.25;2.25;2.25;2.25;2.25;-0.51;2.89	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.74881	2.28	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.998	D	0.84390	0.0554	10	0.87932	D	0	.	12.4934	0.55914	0.0766:0.0:0.9234:0.0	.	45;45;45	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	I	45	ENSP00000273980:L45I;ENSP00000405847:L45I;ENSP00000355338:L45I;ENSP00000378196:L45I;ENSP00000378198:L45I;ENSP00000420985:L45I;ENSP00000425197:L45I;ENSP00000423637:L45I	ENSP00000273980:L45I	L	-	1	0	TBCK	107449434	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.056000	0.64287	2.549000	0.85964	0.591000	0.81541	CTT	TBCK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000145348		0.403	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4	-	0	36	0	G	NM_033115		107229985	-1	tier1	-	no_errors	ENST00000273980	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	T	T	107229985	G	T	107229985	3	4	21	1	0	0	0	0	1	0	0	0	15683	1000	35	3	2648	3	TBCK	4	107229985	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3509357	107229985	83924291	134	5521											
NUDT6	11162	genome.wustl.edu	37	chr4	123838727	123838727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcagccacagagtcaacGttgatgaatccgattctgcg	10	10	9	12	3	3	3	2	2	2	1	5	4	4	3	2	0	3	1	2	0	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:123838727G>T	ENST00000304430.5	-	2	404	c.371C>A	c.(370-372)aCg>aAg	p.T124K	NUDT6_ENST00000339154.2_5'UTR	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	124						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)	p.T124M(1)		endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CAGAGTCAACGTTGATGAATC	0.498																																																	1	Substitution - Missense(1)	endometrium(1)											158	154	155					4																	123838727		2016	4208	6224	SO:0001583	missense	0			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"Nudix motif containing"	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.371C>A	4.37:g.123838727G>T	ENSP00000306070:p.Thr124Lys		A8K756|O95097|Q9UQD9	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	p.T124K	ENST00000304430.5	37	c.371	CCDS43268.1	4	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718408	0.48622	.	.	ENSG00000170917	ENST00000304430	T	0.28895	1.59	4.63	2.73	0.32206	NUDIX hydrolase domain-like (1);	0.334564	0.31199	N	0.008071	T	0.33118	0.0852	M	0.74258	2.255	0.09310	N	0.999997	B	0.31910	0.346	B	0.31337	0.128	T	0.35051	-0.9804	10	0.66056	D	0.02	0.0219	11.189	0.48675	0.1781:0.0:0.8219:0.0	.	124	P53370	NUDT6_HUMAN	K	124	ENSP00000306070:T124K	ENSP00000306070:T124K	T	-	2	0	NUDT6	124058177	0.761000	0.28439	0.006000	0.13384	0.760000	0.43138	2.787000	0.47798	1.185000	0.42971	0.561000	0.74099	ACG	NUDT6	-	superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	ENSG00000170917		0.498	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT6	HGNC	protein_coding	OTTHUMT00000095331.3		0	48	0	G	NM_007083		123838727	-1			no_errors	ENST00000304430	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.002	T	T	123838727	G	T	123838727	3	4	21	1	0	0	0	0	1	0	0	0	10782	1145	40	2	595	2	NUDT6	4	123838727	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	16608742	123838727	67315549	135	5522											
PLK4	10733	genome.wustl.edu	37	chr4	128811266	128811266	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcagatcctctttctGaacagagcaagactaggggt	10	11	11	9	0	3	4	1	1	2	3	4	4	4	4	1	3	2	2	1	3	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:128811266G>T	ENST00000270861.5	+	7	1979	c.1705G>T	c.(1705-1707)Gaa>Taa	p.E569*	PLK4_ENST00000514379.1_Nonsense_Mutation_p.E528*|PLK4_ENST00000513090.1_Nonsense_Mutation_p.E537*|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000507249.1_Nonsense_Mutation_p.E535*|PLK4_ENST00000515069.1_Nonsense_Mutation_p.E491*	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	569					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCCTCTTTCTGAACAGAGCAA	0.398																																					Colon(135;508 1718 19061 31832 42879)												0													87	79	82					4																	128811266		2203	4300	6503	SO:0001587	stop_gained	0			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.1705G>T	4.37:g.128811266G>T	ENSP00000270861:p.Glu569*		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.E569*	ENST00000270861.5	37	c.1705	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.717570	0.97784	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	.	.	.	4.76	3.91	0.45181	.	0.368817	0.30235	N	0.010085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-13.6016	12.7632	0.57376	0.0793:0.0:0.9207:0.0	.	.	.	.	X	569;491;537;535;528	.	ENSP00000270861:E569X	E	+	1	0	PLK4	129030716	1.000000	0.71417	0.988000	0.46212	0.694000	0.40290	4.706000	0.61845	1.225000	0.43566	0.491000	0.48974	GAA	PLK4	-	NULL	ENSG00000142731		0.398	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	-	0	39	0	G			128811266	1	tier1	-	no_errors	ENST00000270861	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.916	T	T	128811266	G	T	128811266	4	4	21	1	0	0	0	0	0	1	0	0	12137	1291	45	3	1731	3	PLK4	4	128811266	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4972539	128811266	62343010	136	5523											
PLK4	10733	genome.wustl.edu	37	chr4	128819601	128819601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcttcacttaggtatggaGaaaatgaaaaattaccagac	16	11	8	6	0	1	3	1	1	0	2	1	4	1	3	1	2	2	2	1	2	7	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:128819601G>C	ENST00000270861.5	+	16	3092	c.2818G>C	c.(2818-2820)Gaa>Caa	p.E940Q	PLK4_ENST00000514379.1_Missense_Mutation_p.E899Q|PLK4_ENST00000513090.1_Missense_Mutation_p.E908Q|PLK4_ENST00000507249.1_Missense_Mutation_p.E879Q|PLK4_ENST00000515069.1_Missense_Mutation_p.E862Q	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	940	POLO box. {ECO:0000255|PROSITE- ProRule:PRU00154}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TAGGTATGGAGAAAATGAAAA	0.308																																					Colon(135;508 1718 19061 31832 42879)												0													103	102	103					4																	128819601		2203	4293	6496	SO:0001583	missense	0			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"serine/threonine kinase 18", "polo-like kinase 4 (Drosophila)"	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2818G>C	4.37:g.128819601G>C	ENSP00000270861:p.Glu940Gln		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.E940Q	ENST00000270861.5	37	c.2818	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158545	0.78114	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379;ENST00000508113	T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77	5.55	5.55	0.83447	POLO box duplicated domain (2);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00071	-1.2131	10	0.39692	T	0.17	-13.736	19.6873	0.95984	0.0:0.0:1.0:0.0	.	908;940	O00444-2;O00444	.;PLK4_HUMAN	Q	940;862;908;879;899;186	ENSP00000270861:E940Q;ENSP00000421774:E862Q;ENSP00000427554:E908Q;ENSP00000423412:E879Q;ENSP00000423582:E899Q;ENSP00000427568:E186Q	ENSP00000270861:E940Q	E	+	1	0	PLK4	129039051	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.419000	0.90253	2.890000	0.99128	0.585000	0.79938	GAA	PLK4	-	pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom	ENSG00000142731		0.308	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	-	0	41	0	G			128819601	1	tier1	-	no_errors	ENST00000270861	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	C	C	128819601	G	C	128819601	3	2	21	1	0	0	0	0	1	0	0	0	12137	943	33	5	2880	5	PLK4	4	128819601	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8335	128819601	62334675	137	5524											
USP38	84640	genome.wustl.edu	37	chr4	144106812	144106812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggaggcctacgcacGataccaccggccagagttcg	8	6	14	13	4	0	1	0	0	0	1	1	3	0	2	4	4	3	3	4	4	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:144106812G>T	ENST00000307017.4	+	1	715	c.209G>T	c.(208-210)cGa>cTa	p.R70L	RP11-284M14.1_ENST00000507486.1_RNA|RP11-284M14.1_ENST00000507826.1_RNA|USP38_ENST00000510377.1_Missense_Mutation_p.R70L	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	70					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GCCTACGCACGATACCACCGG	0.607																																																	0													93	71	79					4																	144106812		2203	4300	6503	SO:0001583	missense	0			AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"Ubiquitin-specific peptidases"	20067	protein-coding gene	gene with protein product			"ubiquitin specific protease 38"			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.209G>T	4.37:g.144106812G>T	ENSP00000303434:p.Arg70Leu		B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R70L	ENST00000307017.4	37	c.209	CCDS3758.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.263185	0.95399	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.67865	-0.28;-0.29	5.3	5.3	0.74995	.	0.062033	0.64402	D	0.000007	T	0.74390	0.3710	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70016	0.94;0.967	T	0.77027	-0.2740	10	0.87932	D	0	-7.744	19.1462	0.93469	0.0:0.0:1.0:0.0	.	70;70	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	L	70	ENSP00000427647:R70L;ENSP00000303434:R70L	ENSP00000303434:R70L	R	+	2	0	USP38	144326262	0.983000	0.35010	0.087000	0.20705	0.973000	0.67179	2.722000	0.47269	2.758000	0.94735	0.561000	0.74099	CGA	USP38	-	NULL	ENSG00000170185		0.607	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP38	HGNC	protein_coding	OTTHUMT00000364869.1	-	0	39	0	G	NM_032557		144106812	1	tier1	-	no_errors	ENST00000307017	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.998	T	T	144106812	G	T	144106812	3	4	21	1	0	0	0	0	1	0	0	0	17118	1058	37	2	211	2	USP38	4	144106812	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	15287211	144106812	47047464	138	5525											
DCLK2	166614	genome.wustl.edu	37	chr4	151153530	151153530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtcaatactgcgccgagtGaaacatcccaatatcattat	13	11	7	10	2	2	1	2	1	0	0	3	2	3	1	2	0	3	0	2	0	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:151153530G>A	ENST00000296550.7	+	9	2095	c.1341G>A	c.(1339-1341)gtG>gtA	p.V447V	DCLK2_ENST00000506325.1_Silent_p.V446V|DCLK2_ENST00000302176.8_Silent_p.V464V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	447	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGCGCCGAGTGAAACATCCCA	0.438																																					GBM(195;186 2215 13375 16801 37459)												0													218	202	208					4																	151153530		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1341G>A	4.37:g.151153530G>A			C9J5Q9|Q59GC8|Q8N399	Silent	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.V464	ENST00000296550.7	37	c.1392	CCDS34076.1	4																																																																																			DCLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000170390		0.438	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	-	0	52	0	G	NM_001040260		151153530	1	tier1	-	no_errors	ENST00000302176	ensembl	human	known	74_37	silent	19.44	28	7	SNP	1.000	A	A	151153530	G	A	151153530	2	1	21	1	0	0	0	0	0	0	0	1	4301	1277	45	3		3	DCLK2	4	151153530	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7046718	151153530	40000746	139	5526											
FAM198B	51313	genome.wustl.edu	37	chr4	159092457	159092457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggctgctccagagcttaCgcacccgcgggacgcacagg	7	4	14	16	5	0	1	0	0	0	1	1	2	1	2	3	3	3	5	3	3	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:159092457C>A	ENST00000296530.8	-	2	692	c.71G>T	c.(70-72)cGt>cTt	p.R24L	RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.R24L|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000393807.5_Missense_Mutation_p.R24L|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.R24L|RP11-597D13.9_ENST00000505532.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	24						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCAGAGCTTACGCACCCGCGG	0.612																																																	0													40	41	41					4																	159092457		2202	4298	6500	SO:0001583	missense	0				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.71G>T	4.37:g.159092457C>A	ENSP00000296530:p.Arg24Leu		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	NULL	p.R24L	ENST00000296530.8	37	c.71	CCDS3798.1	4	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009411	0.19277	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.26660	1.72;1.72	5.31	3.43	0.39272	.	0.859428	0.10447	N	0.673587	T	0.10035	0.0246	N	0.03324	-0.35	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.32877	-0.9890	10	0.15952	T	0.53	-1.2195	5.4491	0.16552	0.1827:0.6222:0.1142:0.081	.	24;24;24	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	L	24	ENSP00000296530:R24L;ENSP00000377396:R24L	ENSP00000296530:R24L	R	-	2	0	FAM198B	159311907	0.098000	0.21812	0.002000	0.10522	0.549000	0.35272	1.234000	0.32660	1.458000	0.47871	0.655000	0.94253	CGT	FAM198B	-	NULL	ENSG00000164125		0.612	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	-	0	20	0	C	NM_001031700, NM_016613		159092457	-1	tier1	-	no_errors	ENST00000393807	ensembl	human	known	74_37	missense	45.45	11	10	SNP	0.000	A	A	159092457	C	A	159092457	3	1	21	1	0	0	0	0	1	0	0	0	5548	536	19	2	1609	2	FAM198B	4	159092457	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	7938927	159092457	32061819	140	5527											
ANXA10	11199	genome.wustl.edu	37	chr4	169105799	169105799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggaaacgatacaaagaGcgatatggaaaatccctatt	19	8	8	6	2	0	1	0	0	0	1	1	5	1	3	1	2	3	0	1	2	8	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:169105799G>T	ENST00000359299.3	+	11	1059	c.873G>T	c.(871-873)gaG>gaT	p.E291D		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	291						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GATACAAAGAGCGATATGGAA	0.353																																																	0													160	167	165					4																	169105799		2203	4300	6503	SO:0001583	missense	0			AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"Annexins"	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.873G>T	4.37:g.169105799G>T	ENSP00000352248:p.Glu291Asp		Q96IQ5|Q9UJV4	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX	p.E291D	ENST00000359299.3	37	c.873	CCDS34096.1	4	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544357	0.45280	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.03524	3.9	5.84	2.78	0.32641	.	0.000000	0.64402	D	0.000005	T	0.10895	0.0266	L	0.46567	1.45	0.37156	D	0.902374	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.947	T	0.05616	-1.0874	10	0.56958	D	0.05	.	10.2151	0.43164	0.296:0.0:0.704:0.0	.	163;291	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	D	291	ENSP00000352248:E291D	ENSP00000352248:E291D	E	+	3	2	ANXA10	169342374	1.000000	0.71417	0.999000	0.59377	0.293000	0.27360	0.588000	0.23924	0.821000	0.34540	0.655000	0.94253	GAG	ANXA10	-	pfam_Annexin_repeat,smart_Annexin_repeat	ENSG00000109511		0.353	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA10	HGNC	protein_coding	OTTHUMT00000364348.2	-	0	70	0	G	NM_007193		169105799	1	tier1	-	no_errors	ENST00000359299	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	T	T	169105799	G	T	169105799	3	4	21	1	0	0	0	0	1	0	0	0	715	962	34	3	915	3	ANXA10	4	169105799	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10013342	169105799	22048477	141	5528											
DDX60L	91351	genome.wustl.edu	37	chr4	169377190	169377190	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgttctttttacttacTaagacacgatggtacattct	9	17	7	8	1	2	1	0	0	2	1	2	2	2	1	0	1	3	3	0	1	4	8			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:169377190T>A	ENST00000511577.1	-	7	1084	c.837A>T	c.(835-837)ttA>ttT	p.L279F	DDX60L_ENST00000505890.1_Splice_Site_p.L279F|DDX60L_ENST00000260184.7_Splice_Site_p.L279F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	279							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTTACTTACTAAGACACGAT	0.453																																																	0													53	49	50					4																	169377190		1946	4152	6098	SO:0001630	splice_region_variant	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.837+1A>T	4.37:g.169377190T>A			Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L279F	ENST00000511577.1	37	c.837		4	.	.	.	.	.	.	.	.	.	.	T	13.64	2.296686	0.40594	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.22336	1.96;1.96;1.97;2.7	3.48	2.27	0.28462	.	0.740857	0.10182	U	0.705781	T	0.37679	0.1012	L	0.58810	1.83	0.09310	N	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.72075	0.949;0.976;0.949	T	0.12578	-1.0542	9	.	.	.	.	6.0129	0.19586	0.0:0.2343:0.0:0.7657	.	279;279;279	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	F	279;279;279;7	ENSP00000260184:L279F;ENSP00000422423:L279F;ENSP00000422202:L279F;ENSP00000421026:L7F	.	L	-	3	2	DDX60L	169613765	0.760000	0.28428	0.002000	0.10522	0.003000	0.03518	0.845000	0.27668	0.234000	0.21139	0.377000	0.23210	TTA	DDX60L	-	NULL	ENSG00000181381		0.453	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	-	0	26	0	T	NM_001012967	Missense_Mutation	169377190	-1	tier1	-	no_errors	ENST00000260184	ensembl	human	known	74_37	missense	37.93	18	11	SNP	0.006	A	A	169377190	T	A	169377190	5	1	21	1	0	0	0	0	0	0	1	0	4388	1536	53	5	4411	5	DDX60L	4	169377190	Splice_Site	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	271391	169377190	21777086	142	5529											
PALLD	23022	genome.wustl.edu	37	chr4	169819706	169819706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atagagtacaggctagaaagGtctcctgtggatgaatcagg	13	9	13	6	0	2	3	1	1	1	2	3	4	2	4	1	4	1	2	1	4	5	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:169819706G>T	ENST00000505667.1	+	14	2486	c.2313G>T	c.(2311-2313)agG>agT	p.R771S	PALLD_ENST00000261509.6_Missense_Mutation_p.R754S|PALLD_ENST00000507735.1_Missense_Mutation_p.R267S|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.R372S|PALLD_ENST00000335742.7_Missense_Mutation_p.R596S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	978	Interaction with EPS8. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGCTAGAAAGGTCTCCTGTGG	0.418									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													109	102	104					4																	169819706		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2313G>T	4.37:g.169819706G>T	ENSP00000425556:p.Arg771Ser		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R754S	ENST00000505667.1	37	c.2262	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649230	0.29336	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000510998;ENST00000393726;ENST00000507735	T;T;T;T;T;T;T	0.64260	-0.06;-0.09;0.25;0.0;0.09;0.24;0.29	5.55	4.69	0.59074	.	0.000000	0.29034	U	0.013348	T	0.69079	0.3071	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.991;0.991;0.994	T	0.69595	-0.5103	10	0.08837	T	0.75	.	4.8796	0.13672	0.1886:0.203:0.6083:0.0	.	771;978;372;754	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	S	754;596;771;372;47;47;267	ENSP00000261509:R754S;ENSP00000336735:R596S;ENSP00000425556:R771S;ENSP00000426947:R372S;ENSP00000422135:R47S;ENSP00000377327:R47S;ENSP00000424016:R267S	ENSP00000261509:R754S	R	+	3	2	PALLD	170056281	0.999000	0.42202	1.000000	0.80357	0.235000	0.25334	0.603000	0.24149	1.301000	0.44836	0.585000	0.79938	AGG	PALLD	-	NULL	ENSG00000129116		0.418	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	-	0	45	0	G	NM_016081		169819706	1	tier1	-	no_errors	ENST00000261509	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T	T	169819706	G	T	169819706	3	4	21	1	0	0	0	0	1	0	0	0	11446	1252	44	3	2870	3	PALLD	4	169819706	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	442516	169819706	21334570	143	5530											
WDR17	116966	genome.wustl.edu	37	chr4	177052858	177052858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agttggactttatgatatggGagctaagaagtgggattttc	11	14	13	3	0	0	2	0	1	0	1	1	5	0	5	0	3	1	2	0	3	4	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:177052858G>C	ENST00000280190.4	+	8	1295	c.1139G>C	c.(1138-1140)gGa>gCa	p.G380A	WDR17_ENST00000507824.2_Missense_Mutation_p.G363A|WDR17_ENST00000508596.1_Missense_Mutation_p.G356A|WDR17_ENST00000393643.2_Missense_Mutation_p.G356A			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	380										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATGATATGGGAGCTAAGAAG	0.373																																																	0													276	269	271					4																	177052858		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1139G>C	4.37:g.177052858G>C	ENSP00000280190:p.Gly380Ala		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G380A	ENST00000280190.4	37	c.1139	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.665650|2.665650	0.47677|0.47677	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.57273	.|0.44;0.47;0.41	5.45|5.45	5.45|5.45	0.79879|0.79879	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54334|0.54334	0.1852|0.1852	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.55114|0.55114	-0.8191|-0.8191	5|10	.|0.20519	.|T	.|0.43	-22.3371|-22.3371	19.6593|19.6593	0.95859|0.95859	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|356;380	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	Q|A	129|356;356;380;363	.|ENSP00000422763:G356A;ENSP00000377258:G356A;ENSP00000280190:G380A	.|ENSP00000280190:G380A	E|G	+|+	1|2	0|0	WDR17|WDR17	177289852|177289852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.335000|7.335000	0.79234|0.79234	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GAG|GGA	WDR17	-	superfamily_WD40_repeat_dom	ENSG00000150627		0.373	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	94	0	G			177052858	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	9.21	69	7	SNP	1.000	C	C	177052858	G	C	177052858	3	2	21	1	0	0	0	0	1	0	0	0	17326	1174	41	5	1165	5	WDR17	4	177052858	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7233152	177052858	14101418	144	5531											
FAT1	2195	genome.wustl.edu	37	chr4	187549722	187549722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccggttgcaggatcaaGacgaaatttcttgagactca	13	9	11	8	2	3	3	2	1	1	3	3	6	3	4	1	2	2	2	1	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr4:187549722G>T	ENST00000441802.2	-	8	4728	c.4519C>A	c.(4519-4521)Ctt>Att	p.L1507I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1507	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAGGATCAAGACGAAATTTC	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													121	116	118					4																	187549722		1896	4105	6001	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4519C>A	4.37:g.187549722G>T	ENSP00000406229:p.Leu1507Ile			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L1507I	ENST00000441802.2	37	c.4519	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573096	0.28092	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.33865	1.39	5.45	5.45	0.79879	Cadherin (4);Cadherin-like (1);	0.126726	0.53938	D	0.000059	T	0.28665	0.0710	N	0.04994	-0.135	0.52099	D	0.999949	D	0.55385	0.971	P	0.58077	0.832	T	0.05666	-1.0871	10	0.05436	T	0.98	.	14.3996	0.67034	0.0:0.0:0.8526:0.1474	.	1507	Q14517	FAT1_HUMAN	I	1507	ENSP00000406229:L1507I	ENSP00000260147:L1507I	L	-	1	0	FAT1	187786716	1.000000	0.71417	0.986000	0.45419	0.774000	0.43823	4.487000	0.60293	2.861000	0.98227	0.650000	0.86243	CTT	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	44	0	G	NM_005245		187549722	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.989	T	T	187549722	G	T	187549722	3	4	21	1	0	0	0	0	1	0	0	0	5711	942	33	3	9327	3	FAT1	4	187549722	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10496864	187549722	3604554	145	5532											
SLC12A7	10723	genome.wustl.edu	37	chr5	1083966	1083966	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggagccgttgcagaaGaggccccagagcgcggaggt	8	4	19	10	3	0	3	0	0	0	3	0	5	0	5	3	5	3	3	3	5	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:1083966G>T	ENST00000264930.5	-	8	1066	c.1023C>A	c.(1021-1023)ctC>ctA	p.L341L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	341					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGTTGCAGAAGAGGCCCCAGA	0.652																																																	0													84	76	79					5																	1083966		2201	4300	6501	SO:0001819	synonymous_variant	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1023C>A	5.37:g.1083966G>T			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L341	ENST00000264930.5	37	c.1023	CCDS34129.1	5																																																																																			SLC12A7	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0	99	0	G	NM_006598		1083966	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	silent	5.31	107	6	SNP	1.000	T	T	1083966	G	T	1083966	2	4	21	1	0	0	0	0	0	0	0	1	14433	929	33	3		3	SLC12A7	5	1083966	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		1083966	179831294	146	5533											
ZFR	51663	genome.wustl.edu	37	chr5	32385747	32385747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtcatacttctcaggGcttataacctgtgtaatgaa	11	16	7	7	0	2	1	2	1	1	0	3	1	2	1	1	1	2	2	1	1	6	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:32385747G>T	ENST00000265069.8	-	15	2610	c.2508C>A	c.(2506-2508)agC>agA	p.S836R	ZFR_ENST00000510369.1_5'Flank	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	836	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ACTTCTCAGGGCTTATAACCT	0.363																																																	0													123	117	119					5																	32385747		2203	4300	6503	SO:0001583	missense	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2508C>A	5.37:g.32385747G>T	ENSP00000265069:p.Ser836Arg		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.S836R	ENST00000265069.8	37	c.2508	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124666	0.37533	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.42513	0.97	5.61	4.47	0.54385	DZF (2);	0.081727	0.85682	D	0.000000	T	0.34077	0.0885	L	0.38175	1.15	0.43137	D	0.994886	P	0.44946	0.846	B	0.43623	0.425	T	0.16541	-1.0399	10	0.72032	D	0.01	.	7.0905	0.25282	0.7366:0.0:0.2634:0.0	.	836	Q96KR1	ZFR_HUMAN	R	836;814	ENSP00000265069:S836R	ENSP00000265069:S836R	S	-	3	2	ZFR	32421504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.049000	0.30392	0.968000	0.38212	0.557000	0.71058	AGC	ZFR	-	pfam_DZF,smart_DZF	ENSG00000056097		0.363	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	-	0	37	0	G			32385747	-1	tier1	-	no_errors	ENST00000265069	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	32385747	G	T	32385747	3	4	21	1	0	0	0	0	1	0	0	0	17707	1194	42	3	740	3	ZFR	5	32385747	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	31301781	32385747	148529513	147	5534											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33549455	33549455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgcactgaatctcgcGtatcttgaagcccccactgc	8	9	8	16	3	2	2	0	2	2	0	4	2	3	2	3	0	2	2	3	0	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:33549455G>T	ENST00000504830.1	-	21	4494	c.4159C>A	c.(4159-4161)Cgc>Agc	p.R1387S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1302S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1387	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1387C(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGAATCTCGCGTATCTTGAAG	0.557										HNSCC(64;0.19)																																							1	Substitution - Missense(1)	large_intestine(1)											85	95	92					5																	33549455		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4159C>A	5.37:g.33549455G>T	ENSP00000422554:p.Arg1387Ser		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1387S	ENST00000504830.1	37	c.4159	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055417	0.75960	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.78364	-1.17;-1.17	5.16	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.91071	0.7190	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.991	D	0.92765	0.6227	10	0.87932	D	0	.	12.2147	0.54400	0.0:0.0:0.8289:0.1711	.	1302;1387	P58397-3;P58397	.;ATS12_HUMAN	S	1387;1302	ENSP00000422554:R1387S;ENSP00000344847:R1302S	ENSP00000344847:R1302S	R	-	1	0	ADAMTS12	33585212	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.136000	0.58004	1.140000	0.42260	0.650000	0.86243	CGC	ADAMTS12	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000151388		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2		0	54	0	G	NM_030955		33549455	-1			no_errors	ENST00000504830	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.996	T	T	33549455	G	T	33549455	3	4	21	1	0	0	0	0	1	0	0	0	257	1145	40	2	641	2	ADAMTS12	5	33549455	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1163708	33549455	147365805	148	5535											
MIER3	166968	genome.wustl.edu	37	chr5	56219767	56219767	+	Frame_Shift_Del	DEL	T	T	-																															tccagggtgatggttatatcTttttttcccaaatcttgtct																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:56219767delT	ENST00000381199.3	-	11	1037	c.1027delA	c.(1027-1029)agafs	p.R343fs	MIER3_ENST00000409421.1_Frame_Shift_Del_p.R280fs|MIER3_ENST00000381226.3_Frame_Shift_Del_p.R348fs|MIER3_ENST00000381213.3_Frame_Shift_Del_p.R342fs|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R342fs*15(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TGGTTATATCTTTTTTTCCCA	0.368																																																	1	Deletion - Frameshift(1)	large_intestine(1)											144	141	142					5																	56219767		2203	4300	6503	SO:0001589	frameshift_variant	0			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.1027delA	5.37:g.56219767delT	ENSP00000370596:p.Arg343fs		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R343fs	ENST00000381199.3	37	c.1027		5																																																																																			MIER3	-	NULL	ENSG00000155545		0.368	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	HGNC	protein_coding	OTTHUMT00000132523.2		0	34	0	T	NM_152622		56219767	-1	tier1		no_errors	ENST00000381199	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	56219767	T	-	56219767	7	5	21	1	0	1	0	1	0	0	0	0	9620	1617	56	0	637	0	MIER3	5	56219767	Frame_Shift_Del	DEL	T	TCGA-IG-A4P3-01A-11D-A27G-09	22670312	56219767	124695493	149	5536											
BDP1	55814	genome.wustl.edu	37	chr5	70782376	70782376	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaagttcttgctgaagaaGagaaaagaaaacaaaaatct	22	7	8	4	0	2	5	0	1	2	4	2	6	2	5	0	0	2	2	0	0	9	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:70782376G>C	ENST00000358731.4	+	9	1398	c.1135G>C	c.(1135-1137)Gag>Cag	p.E379Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	379	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGCTGAAGAAGAGAAAAGAAA	0.318																																																	0													60	58	59					5																	70782376		1795	4064	5859	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1135G>C	5.37:g.70782376G>C	ENSP00000351575:p.Glu379Gln		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E379Q	ENST00000358731.4	37	c.1135	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681729	0.68042	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.04706	3.57	5.82	4.94	0.65067	.	0.172516	0.50627	N	0.000116	T	0.15305	0.0369	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.998	D;D;D	0.85130	0.918;0.997;0.952	T	0.01771	-1.1277	10	0.35671	T	0.21	.	8.2256	0.31566	0.0824:0.1597:0.7579:0.0	.	379;379;379	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Q	379	ENSP00000351575:E379Q	ENSP00000351575:E379Q	E	+	1	0	BDP1	70818132	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.215000	0.42862	1.426000	0.47256	0.591000	0.81541	GAG	BDP1	-	NULL	ENSG00000145734		0.318	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0	38	0	G	NM_018429		70782376	1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	C	C	70782376	G	C	70782376	3	2	21	1	0	0	0	0	1	0	0	0	1396	943	33	5	1169	5	BDP1	5	70782376	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	14562609	70782376	110132884	150	5537											
IQGAP2	10788	genome.wustl.edu	37	chr5	75888710	75888710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcttatgaagaactgctGacacaagcagaaatccaagg	16	7	10	8	0	0	4	0	2	0	2	1	5	1	4	1	1	4	3	1	1	6	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:75888710G>A	ENST00000274364.6	+	9	1164	c.867G>A	c.(865-867)ctG>ctA	p.L289L	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	289					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAACTGCTGACACAAGCAG	0.333																																																	0													145	152	149					5																	75888710		2203	4300	6503	SO:0001819	synonymous_variant	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.867G>A	5.37:g.75888710G>A			A8K4V1|B7Z8A4|J3KR91	Silent	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.L289	ENST00000274364.6	37	c.867	CCDS34188.1	5																																																																																			IQGAP2	-	NULL	ENSG00000145703		0.333	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	-	0	50	0	G	NM_006633		75888710	1	tier1	-	no_errors	ENST00000274364	ensembl	human	known	74_37	silent	11.67	53	7	SNP	1.000	A	A	75888710	G	A	75888710	2	1	21	1	0	0	0	0	0	0	0	1	7842	1277	45	3		3	IQGAP2	5	75888710	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5106334	75888710	105026550	151	5538											
CMYA5	202333	genome.wustl.edu	37	chr5	79095325	79095325	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcgagcagttgctcttCatcatcaggcacaggtttaa	11	10	11	9	1	4	1	3	0	1	1	4	3	4	1	0	2	3	5	0	2	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:79095325C>T	ENST00000446378.2	+	13	12127	c.12096C>T	c.(12094-12096)ttC>ttT	p.F4032F	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4032	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTTGCTCTTCATCATCAGGC	0.522																																																	0													142	137	138					5																	79095325		2008	4184	6192	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.12096C>T	5.37:g.79095325C>T			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.F4032	ENST00000446378.2	37	c.12096	CCDS47238.1	5																																																																																			CMYA5	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000164309		0.522	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	42	0	C	NM_153610		79095325	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	silent	28.79	47	19	SNP	0.995	T	T	79095325	C	T	79095325	2	4	21	1	0	0	0	0	0	0	0	1	3597	825	29	3		3	CMYA5	5	79095325	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3206615	79095325	101819935	152	5539											
SPATA9	83890	genome.wustl.edu	37	chr5	95018302	95018302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctacaaggtccatgattGctttctggatcccctcgact	8	13	7	13	1	2	1	0	1	2	0	5	3	4	2	3	2	2	1	3	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:95018302G>T	ENST00000274432.8	-	2	221	c.80C>A	c.(79-81)gCa>gAa	p.A27E	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Missense_Mutation_p.A27E|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GTCCATGATTGCTTTCTGGAT	0.338																																																	0													97	100	99					5																	95018302		2203	4300	6503	SO:0001583	missense	0			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.80C>A	5.37:g.95018302G>T	ENSP00000274432:p.Ala27Glu		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.A27E	ENST00000274432.8	37	c.80	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403129	0.25291	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.53640	0.61	4.7	-5.77	0.02369	.	1.133940	0.06768	N	0.782990	T	0.36468	0.0968	N	0.24115	0.695	0.20563	N	0.999883	P	0.35908	0.527	B	0.38954	0.286	T	0.48559	-0.9025	10	0.72032	D	0.01	0.0487	14.0309	0.64615	0.7658:0.0:0.2342:0.0	.	27	Q9BWV2	SPAT9_HUMAN	E	27	ENSP00000274432:A27E	ENSP00000274432:A27E	A	-	2	0	SPATA9	95044058	0.045000	0.20229	0.074000	0.20217	0.975000	0.68041	-0.805000	0.04530	-1.941000	0.01042	-1.012000	0.02466	GCA	SPATA9	-	NULL	ENSG00000145757		0.338	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	-	0	46	0	G	NM_031952		95018302	-1	tier1	-	no_errors	ENST00000274432	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.149	T	T	95018302	G	T	95018302	3	4	21	1	0	0	0	0	1	0	0	0	15063	1319	46	3	700	3	SPATA9	5	95018302	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	15922977	95018302	85896958	153	5540											
SLCO4C1	353189	genome.wustl.edu	37	chr5	101592993	101592993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaatttgaccgagagcaGctccaggaattaaaacagcc	16	7	8	10	1	0	2	0	1	0	1	1	4	1	3	3	1	4	2	3	1	5	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:101592993G>A	ENST00000310954.6	-	8	1581	c.1295C>T	c.(1294-1296)gCt>gTt	p.A432V		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACCGAGAGCAGCTCCAGGAAT	0.363																																																	0													59	61	60					5																	101592993		2203	4300	6503	SO:0001583	missense	0			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1295C>T	5.37:g.101592993G>A	ENSP00000309741:p.Ala432Val			Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.A432V	ENST00000310954.6	37	c.1295	CCDS34205.1	5	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942701	0.92526	.	.	ENSG00000173930	ENST00000310954	D	0.81579	-1.51	5.78	5.78	0.91487	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000003	D	0.84669	0.5523	L	0.58101	1.795	0.47905	D	0.999549	P	0.42649	0.786	P	0.52031	0.688	T	0.79264	-0.1875	10	0.15952	T	0.53	.	19.9918	0.97368	0.0:0.0:1.0:0.0	.	432	Q6ZQN7	SO4C1_HUMAN	V	432	ENSP00000309741:A432V	ENSP00000309741:A432V	A	-	2	0	SLCO4C1	101620892	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.960000	0.76036	2.728000	0.93425	0.585000	0.79938	GCT	SLCO4C1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000173930		0.363	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	-	0	37	0	G	NM_180991		101592993	-1	tier1	-	no_errors	ENST00000310954	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A	A	101592993	G	A	101592993	3	1	21	1	0	0	0	0	1	0	0	0	14775	971	34	3	903	3	SLCO4C1	5	101592993	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6574691	101592993	79322267	154	5541											
ZNF608	57507	genome.wustl.edu	37	chr5	123982500	123982500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaagctgtcggcctgaaGctgctgctggtgattggaga	7	12	15	7	1	0	4	0	3	0	1	1	5	0	4	1	3	4	4	1	3	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:123982500G>T	ENST00000306315.5	-	4	4012	c.3577C>A	c.(3577-3579)Ctt>Att	p.L1193I	ZNF608_ENST00000504926.1_Missense_Mutation_p.L766I|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1193							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGGCCTGAAGCTGCTGCTGG	0.468																																																	0													162	156	158					5																	123982500		2203	4300	6503	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3577C>A	5.37:g.123982500G>T	ENSP00000307746:p.Leu1193Ile		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.L1193I	ENST00000306315.5	37	c.3577	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686996	0.29962	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.44881	0.92;0.91	5.97	5.97	0.96955	.	0.312122	0.25929	N	0.027383	T	0.39517	0.1081	L	0.51422	1.61	0.39765	D	0.972087	B	0.11235	0.004	B	0.14578	0.011	T	0.14896	-1.0456	10	0.36615	T	0.2	-13.0674	14.3413	0.66627	0.0:0.0:0.8524:0.1476	.	1193	Q9ULD9	ZN608_HUMAN	I	766;1193	ENSP00000427657:L766I;ENSP00000307746:L1193I	ENSP00000307746:L1193I	L	-	1	0	ZNF608	124010399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.978000	0.63799	2.831000	0.97527	0.643000	0.83706	CTT	ZNF608	-	NULL	ENSG00000168916		0.468	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	-	0	90	0	G	XM_114432		123982500	-1	tier1	-	no_errors	ENST00000306315	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	T	T	123982500	G	T	123982500	3	4	21	1	0	0	0	0	1	0	0	0	18082	971	34	3	985	3	ZNF608	5	123982500	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	22389507	123982500	56932760	155	5542											
SEC24A	10802	genome.wustl.edu	37	chr5	134007577	134007577	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggaggtggcttattggGtgagatgctatgaaagtttt	10	14	15	2	0	0	3	0	3	0	1	0	5	0	4	0	4	1	3	0	4	4	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:134007577G>T	ENST00000398844.2	+	4	1105		c.e4+1		SEC24A_ENST00000322887.4_Splice_Site	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCTTATTGGGTGAGATGCTA	0.333																																																	0													137	120	125					5																	134007577		1833	4092	5925	SO:0001630	splice_region_variant	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.817+1G>T	5.37:g.134007577G>T			A8MVW3|Q8WUV2|Q96GP7	Splice_Site	SNP	-	e4+1	ENST00000398844.2	37	c.817+1	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157015	0.78114	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0754	0.86585	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEC24A	134035476	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.029000	0.70895	2.464000	0.83262	0.591000	0.81541	.	SEC24A	-	-	ENSG00000113615		0.333	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1		0	28	0	G		Intron	134007577	1			no_errors	ENST00000398844	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	T	T	134007577	G	T	134007577	5	4	21	1	0	0	0	0	0	0	1	0	14039	1275	44	3	832	3	SEC24A	5	134007577	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10025077	134007577	46907683	156	5543											
MATR3	9782	genome.wustl.edu	37	chr5	138654624	138654624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaaatggcaaccacagagGatgctcaggccgcagtggat	12	7	13	9	1	1	2	1	1	0	1	1	4	1	4	2	4	2	3	2	4	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:138654624G>T	ENST00000394805.3	+	8	1671	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y	MATR3_ENST00000509990.1_Missense_Mutation_p.D446Y|MATR3_ENST00000502499.1_Missense_Mutation_p.D108Y|MATR3_ENST00000502929.1_Missense_Mutation_p.D446Y|MATR3_ENST00000394800.2_Missense_Mutation_p.D446Y|MATR3_ENST00000510056.1_Missense_Mutation_p.D446Y|MATR3_ENST00000503811.1_Missense_Mutation_p.D158Y|MATR3_ENST00000504203.1_Missense_Mutation_p.D108Y|MATR3_ENST00000361059.2_Missense_Mutation_p.D446Y	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	446	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AACCACAGAGGATGCTCAGGC	0.358																																																	0													50	51	51					5																	138654624		2203	4300	6503	SO:0001583	missense	0			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1336G>T	5.37:g.138654624G>T	ENSP00000378284:p.Asp446Tyr		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.D446Y	ENST00000394805.3	37	c.1336	CCDS4210.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.115063|4.115063	0.77210|0.77210	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000512876;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000511249;ENST00000503811|ENST00000515833	T;T;T;T;T;T;T;T;T;T;T;T|.	0.80824|.	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.32;-1.42;-1.32;-1.32;-1.32;-1.32|.	5.8|5.8	4.93|4.93	0.64822|0.64822	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);|.	0.100460|.	0.64402|.	D|.	0.000002|.	T|T	0.54515|0.54515	0.1863|0.1863	L|L	0.29908|0.29908	0.895|0.895	0.44247|0.44247	D|D	0.997099|0.997099	D;D;D;D;D;D|.	0.89917|.	1.0;0.99;1.0;0.975;0.998;0.99|.	D;P;D;P;D;P|.	0.87578|.	0.998;0.796;0.998;0.761;0.996;0.796|.	T|T	0.50800|0.50800	-0.8785|-0.8785	10|5	0.62326|.	D|.	0.03|.	-10.729|-10.729	15.0659|15.0659	0.71996|0.71996	0.0682:0.0:0.9318:0.0|0.0682:0.0:0.9318:0.0	.|.	158;446;158;446;446;446|.	B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243|.	.;.;.;.;.;MATR3_HUMAN|.	Y|S	446;446;108;446;446;446;108;108;108;446;44;158|205	ENSP00000423533:D446Y;ENSP00000354346:D446Y;ENSP00000421218:D108Y;ENSP00000422319:D446Y;ENSP00000378279:D446Y;ENSP00000378284:D446Y;ENSP00000425150:D108Y;ENSP00000422700:D108Y;ENSP00000426030:D108Y;ENSP00000426743:D446Y;ENSP00000422649:D44Y;ENSP00000423587:D158Y|.	ENSP00000354346:D446Y|.	D|R	+|+	1|3	0|2	MATR3|MATR3	138682523|138682523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.603000|5.603000	0.67619|0.67619	1.461000|1.461000	0.47929|0.47929	0.655000|0.655000	0.94253|0.94253	GAT|AGG	MATR3	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000015479		0.358	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	-	0	41	0	G	NM_018834		138654624	1	tier1	-	no_errors	ENST00000361059	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	138654624	G	T	138654624	3	4	21	1	0	0	0	0	1	0	0	0	9375	1174	41	3	1362	3	MATR3	5	138654624	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4647047	138654624	42260636	157	5544											
PCDHB3	56132	genome.wustl.edu	37	chr5	140481417	140481417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccttcttcctgaaacCatctgtagagaatttttaca	10	15	4	12	0	3	2	0	1	3	1	5	3	4	2	4	0	2	1	4	0	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:140481417C>A	ENST00000231130.2	+	1	1184	c.1184C>A	c.(1183-1185)cCa>cAa	p.P395Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTGAAACCATCTGTAGAG	0.468																																																	0													91	89	89					5																	140481417		2203	4300	6503	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1184C>A	5.37:g.140481417C>A	ENSP00000231130:p.Pro395Gln		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P395Q	ENST00000231130.2	37	c.1184	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977730	0.34848	.	.	ENSG00000113205	ENST00000231130	T	0.53640	0.61	4.73	2.87	0.33458	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62356	0.2421	M	0.73753	2.245	0.09310	N	1	D	0.71674	0.998	D	0.72625	0.978	T	0.49153	-0.8969	9	0.56958	D	0.05	.	4.9531	0.14025	0.1536:0.6179:0.1485:0.0799	.	395	Q9Y5E6	PCDB3_HUMAN	Q	395	ENSP00000231130:P395Q	ENSP00000231130:P395Q	P	+	2	0	PCDHB3	140461601	0.000000	0.05858	0.334000	0.25495	0.640000	0.38277	1.128000	0.31369	1.069000	0.40788	0.655000	0.94253	CCA	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.468	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2		0	35	0	C	NM_018937		140481417	1			no_errors	ENST00000231130	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.025	A	A	140481417	C	A	140481417	3	1	21	1	0	0	0	0	1	0	0	0	11582	594	21	3	1186	3	PCDHB3	5	140481417	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1826793	140481417	40433843	158	5545											
PCDHB14	56122	genome.wustl.edu	37	chr5	140604233	140604233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggatgatttgctctattCaagataacctcccttttttc	9	16	7	9	0	2	2	1	1	1	1	4	4	3	4	2	2	2	1	2	2	3	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:140604233C>G	ENST00000239449.4	+	1	1156	c.1156C>G	c.(1156-1158)Caa>Gaa	p.Q386E	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Q233E	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGCTCTATTCAAGATAACCT	0.423																																					Ovarian(141;50 1831 27899 33809 37648)												0													110	115	113					5																	140604233		2203	4300	6503	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1156C>G	5.37:g.140604233C>G	ENSP00000239449:p.Gln386Glu		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q386E	ENST00000239449.4	37	c.1156	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	2.296	-0.361210	0.05103	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.51817	0.69;0.69	4.54	3.66	0.41972	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37433	0.1003	L	0.35487	1.065	0.09310	N	1	B	0.21147	0.052	B	0.20384	0.029	T	0.18085	-1.0348	9	0.22109	T	0.4	.	13.6752	0.62449	0.0:0.5208:0.4792:0.0	.	386	Q9Y5E9	PCDBE_HUMAN	E	233;386	ENSP00000444518:Q233E;ENSP00000239449:Q386E	ENSP00000239449:Q386E	Q	+	1	0	PCDHB14	140584417	0.000000	0.05858	0.085000	0.20634	0.667000	0.39255	-0.242000	0.08928	1.021000	0.39600	0.586000	0.80456	CAA	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	45	0	C	NM_018934		140604233	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.041	G	G	140604233	C	G	140604233	3	3	21	1	0	0	0	0	1	0	0	0	11578	827	29	5	1158	5	PCDHB14	5	140604233	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	122816	140604233	40311027	159	5546											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140799311	140799311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacaggcgaggtgcgcatgGtgcgtgctttgggtgacaag	8	8	18	7	3	0	1	0	1	0	0	0	3	0	1	0	4	4	2	0	4	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:140799311G>C	ENST00000398594.2	+	1	1885	c.1885G>C	c.(1885-1887)Gtg>Ctg	p.V629L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCATGGTGCGTGCTTT	0.657																																																	0													57	63	61					5																	140799311		2181	4288	6469	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1885G>C	5.37:g.140799311G>C	ENSP00000381594:p.Val629Leu		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V629L	ENST00000398594.2	37	c.1885	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	g	5.747	0.322288	0.10900	.	.	ENSG00000254122	ENST00000398594	T	0.53206	0.63	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.268660	0.18828	U	0.130071	T	0.35393	0.0930	N	0.22421	0.69	0.09310	N	1	B;B	0.22800	0.075;0.035	B;B	0.29524	0.103;0.062	T	0.24977	-1.0145	10	0.59425	D	0.04	.	8.805	0.34932	0.0769:0.0:0.7719:0.1511	.	629;629	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	L	629	ENSP00000381594:V629L	ENSP00000381594:V629L	V	+	1	0	PCDHGB7	140779495	0.000000	0.05858	0.006000	0.13384	0.143000	0.21401	0.042000	0.13949	2.619000	0.88677	0.491000	0.48974	GTG	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.657	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	41	0	G	NM_018927		140799311	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.003	C	C	140799311	G	C	140799311	3	2	21	1	0	0	0	0	1	0	0	0	11607	1261	44	5	1887	5	PCDHGB7	5	140799311	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	195078	140799311	40115949	160	5547											
CD74	972	genome.wustl.edu	37	chr5	149792285	149792285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gactggcttctgatcttcccGacagctcctgcttctcctcc	4	13	7	17	1	3	1	0	1	3	0	7	3	6	1	4	1	2	3	4	1	0	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:149792285G>C	ENST00000009530.7	-	1	29	c.28C>G	c.(28-30)Cgg>Ggg	p.R10G	CD74_ENST00000524315.1_Missense_Mutation_p.R10G|CD74_ENST00000377795.3_Missense_Mutation_p.R10G|CD74_ENST00000353334.6_Missense_Mutation_p.R10G			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	10					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)	p.R10W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATCTTCCCGACAGCTCCTG	0.612			T	ROS1	NSCLC																																			Dom	yes		5	5q32	972	"CD74 molecule, major histocompatibility complex, class II invariant chain"		E	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											152	153	153					5																	149792285		2203	4300	6503	SO:0001583	missense	0				CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.28C>G	5.37:g.149792285G>C	ENSP00000009530:p.Arg10Gly		A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	pfam_MHC_II-assoc_invar/CLIP_MHC-bd,pfam_MHC_II-assoc_invariant_trimer,pfam_Thyroglobulin_1,superfamily_MHC_II-assoc_invariant_trimer,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_MHC_II-assoc_invar_chain,pfscan_Thyroglobulin_1,prints_MHC_II-assoc_invar_chain	p.R10G	ENST00000009530.7	37	c.28	CCDS47309.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.147|2.147	-0.395465|-0.395465	0.04899|0.04899	.|.	.|.	ENSG00000019582|ENSG00000019582	ENST00000377795;ENST00000353334;ENST00000524315;ENST00000009530|ENST00000518797	T|.	0.58797|.	0.31|.	5.09|5.09	-0.158|-0.158	0.13383|0.13383	.|.	1.523410|.	0.04231|.	N|.	0.335207|.	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.00926|0.00926	-1.1|-1.1	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.31308|0.31308	-0.9948|-0.9948	10|5	0.33940|.	T|.	0.23|.	1.0452|1.0452	0.8313|0.8313	0.01131|0.01131	0.3006:0.3515:0.1527:0.1953|0.3006:0.3515:0.1527:0.1953	.|.	10;10;10;10|.	A9YLN4;P04233-3;P04233-2;P04233|.	.;.;.;HG2A_HUMAN|.	G|W	10|4	ENSP00000009530:R10G|.	ENSP00000009530:R10G|.	R|S	-|-	1|2	2|0	CD74|CD74	149772478|149772478	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.474000|-0.474000	0.06607|0.06607	-0.356000|-0.356000	0.08187|0.08187	-2.070000|-2.070000	0.00385|0.00385	CGG|TCG	CD74	-	NULL	ENSG00000019582		0.612	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD74	HGNC	protein_coding	OTTHUMT00000374178.1	-	0	44	0	G	NM_004355		149792285	-1	tier1	-	no_errors	ENST00000009530	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.000	C	C	149792285	G	C	149792285	3	2	21	1	0	0	0	0	1	0	0	0	3042	1057	37	5	898	5	CD74	5	149792285	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8992974	149792285	31122975	161	5548											
DCTN4	51164	genome.wustl.edu	37	chr5	150095155	150095155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctgaaagtcttgaggttCtgccaactcatcgtactctg	8	13	9	11	1	4	2	1	2	3	0	6	2	5	2	2	1	3	2	2	1	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:150095155C>T	ENST00000447998.2	-	12	1256	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	DCTN4_ENST00000424236.1_Missense_Mutation_p.E324K|DCTN4_ENST00000446090.2_Missense_Mutation_p.E388K	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	381					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTGAGGTTCTGCCAACTCA	0.488																																																	0													152	124	134					5																	150095155		2203	4300	6503	SO:0001583	missense	0			AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.1141G>A	5.37:g.150095155C>T	ENSP00000416968:p.Glu381Lys		B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Missense_Mutation	SNP	pfam_Dynactin_p62	p.E388K	ENST00000447998.2	37	c.1162	CCDS4310.1	5	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169017	0.57584	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090	T;T;T	0.22134	1.97;1.97;1.97	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	L	0.34521	1.04	0.80722	D	1	P;P	0.42078	0.728;0.77	B;B	0.42738	0.275;0.396	T	0.01162	-1.1432	10	0.16896	T	0.51	-4.8852	20.5632	0.99335	0.0:1.0:0.0:0.0	.	388;381	Q9UJW0-3;Q9UJW0	.;DCTN4_HUMAN	K	381;324;388	ENSP00000416968:E381K;ENSP00000411251:E324K;ENSP00000414906:E388K	ENSP00000411251:E324K	E	-	1	0	DCTN4	150075348	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	7.309000	0.78937	2.937000	0.99478	0.650000	0.86243	GAA	DCTN4	-	pfam_Dynactin_p62	ENSG00000132912		0.488	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCTN4	HGNC	protein_coding	OTTHUMT00000252372.1	-	0	68	0	C			150095155	-1	tier1	-	no_errors	ENST00000446090	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	T	T	150095155	C	T	150095155	3	4	21	1	0	0	0	0	1	0	0	0	4318	922	32	3	249	3	DCTN4	5	150095155	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	302870	150095155	30820105	162	5549											
EBF1	1879	genome.wustl.edu	37	chr5	158158109	158158109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcagggtcaccagggtgccGaggaatgaccttctgtaacc	9	8	12	12	1	3	1	2	1	1	0	3	3	3	2	4	3	2	1	4	3	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:158158109G>C	ENST00000313708.6	-	11	1375	c.1093C>G	c.(1093-1095)Cgg>Ggg	p.R365G	EBF1_ENST00000517373.1_Missense_Mutation_p.R357G|EBF1_ENST00000380654.4_Missense_Mutation_p.R334G|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	365					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGGTGCCGAGGAATGACC	0.438			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													69	69	69					5																	158158109		2203	4300	6503	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1093C>G	5.37:g.158158109G>C	ENSP00000322898:p.Arg365Gly		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.R365G	ENST00000313708.6	37	c.1093	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683352	0.68157	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.45668	0.89;0.89;0.89	5.51	2.48	0.30137	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.64800	0.2631	M	0.85197	2.74	0.47153	D	0.999337	B;D;P;P	0.64830	0.228;0.994;0.521;0.653	B;D;B;P	0.66602	0.081;0.945;0.198;0.511	T	0.70568	-0.4836	10	0.48119	T	0.1	-5.5481	14.6933	0.69101	0.0:0.0:0.4173:0.5827	.	365;352;365;334	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	G	365;365;334;357	ENSP00000322898:R365G;ENSP00000370029:R334G;ENSP00000428020:R357G	ENSP00000322898:R365G	R	-	1	2	EBF1	158090687	0.922000	0.31269	0.996000	0.52242	0.996000	0.88848	1.401000	0.34589	0.750000	0.32877	0.655000	0.94253	CGG	EBF1	-	superfamily_bHLH_dom	ENSG00000164330		0.438	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0	25	0	G	NM_024007		158158109	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	36.36	21	12	SNP	0.962	C	C	158158109	G	C	158158109	3	2	21	1	0	0	0	0	1	0	0	0	4894	1057	37	5	706	5	EBF1	5	158158109	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8062954	158158109	22757151	163	5550											
CCDC99	54908	genome.wustl.edu	37	chr5	169021623	169021623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctcatcagtatgaaaGtcaagtatcagtcactaaag	15	10	8	8	0	6	1	6	1	0	0	6	1	6	1	0	0	1	3	0	0	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr5:169021623G>T	ENST00000265295.4	+	7	1108	c.829G>T	c.(829-831)Gtc>Ttc	p.V277F	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		CAGTATGAAAGTCAAGTATCA	0.333																																																	0													119	113	115					5																	169021623		2203	4300	6503	SO:0001583	missense	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.829G>T	5.37:g.169021623G>T	ENSP00000265295:p.Val277Phe			Missense_Mutation	SNP	NULL	p.V277F	ENST00000265295.4	37	c.829	CCDS4370.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.9|20.9	4.066623|4.066623	0.76301|0.76301	.|.	.|.	ENSG00000040275|ENSG00000040275	ENST00000505977|ENST00000265295;ENST00000274631	.|T	.|0.37235	.|1.21	5.8|5.8	4.93|4.93	0.64822|0.64822	.|.	.|0.121727	.|0.53938	.|D	.|0.000048	T|T	0.52322|0.52322	0.1727|0.1727	L|L	0.59436|0.59436	1.845|1.845	0.30925|0.30925	N|N	0.727591|0.727591	.|D;D;D	.|0.67145	.|0.996;0.996;0.977	.|P;D;P	.|0.64237	.|0.907;0.923;0.847	T|T	0.58685|0.58685	-0.7593|-0.7593	5|10	.|0.48119	.|T	.|0.1	-1.9536|-1.9536	12.9147|12.9147	0.58199|0.58199	0.1349:0.0:0.8651:0.0|0.1349:0.0:0.8651:0.0	.|.	.|199;178;277	.|B4E393;Q96EA4-2;Q96EA4	.|.;.;SPDLY_HUMAN	I|F	205|277;178	.|ENSP00000265295:V277F	.|ENSP00000265295:V277F	S|V	+|+	2|1	0|0	CCDC99|CCDC99	168954201|168954201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.787000|3.787000	0.55439|0.55439	1.446000|1.446000	0.47643|0.47643	0.651000|0.651000	0.88453|0.88453	AGT|GTC	SPDL1	-	NULL	ENSG00000040275		0.333	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	-	0	30	0	G	NM_017785		169021623	1	tier1	-	no_errors	ENST00000265295	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	169021623	G	T	169021623	3	4	21	1	0	0	0	0	1	0	0	0	2883	1029	36	3	851	3	CCDC99	5	169021623	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10863514	169021623	11893637	164	5551											
MAK	4117	genome.wustl.edu	37	chr6	10803989	10803989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacttggcaaattttaaaGatttcatcgacctcacttgt	14	14	5	8	1	2	1	2	0	0	1	3	2	2	1	1	1	1	1	1	1	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:10803989G>C	ENST00000313243.2	-	7	1009	c.627C>G	c.(625-627)atC>atG	p.I209M	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.I209M|MAK_ENST00000354489.2_Missense_Mutation_p.I209M|MAK_ENST00000536370.1_Missense_Mutation_p.I209M|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000538030.1_Missense_Mutation_p.I209M			P20794	MAK_HUMAN	male germ cell-associated kinase	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AAATTTTAAAGATTTCATCGA	0.373																																																	0													100	102	102					6																	10803989		2203	4300	6503	SO:0001583	missense	0				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.627C>G	6.37:g.10803989G>C	ENSP00000313021:p.Ile209Met		F1T0K6|G1FL29|Q547D0|Q9NUH7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I209M	ENST00000313243.2	37	c.627	CCDS4516.1	6	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686861	0.88639	.	.	ENSG00000111837	ENST00000313243;ENST00000354489;ENST00000538030;ENST00000536370	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.20574	0.59	0.80722	D	1	P	0.46277	0.875	P	0.55667	0.781	T	0.36163	-0.9759	10	0.59425	D	0.04	.	19.2488	0.93913	0.0:0.0:1.0:0.0	.	209	P20794	MAK_HUMAN	M	209	ENSP00000313021:I209M;ENSP00000346484:I209M;ENSP00000442250:I209M;ENSP00000442221:I209M	ENSP00000313021:I209M	I	-	3	3	MAK	10911975	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.670000	0.46833	2.547000	0.85894	0.557000	0.71058	ATC	MAK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000111837		0.373	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK	HGNC	protein_coding	OTTHUMT00000039841.1	-	0	42	0	G	NM_005906		10803989	-1	tier1	-	no_errors	ENST00000313243	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	C	C	10803989	G	C	10803989	3	2	21	1	0	0	0	0	1	0	0	0	9235	932	33	5	1276	5	MAK	6	10803989	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		10803989	160311078	165	5552											
HIVEP1	3096	genome.wustl.edu	37	chr6	12122460	12122460	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaagctctgatataccgaAgtcacctttcacccctactg	10	12	5	14	1	4	1	3	1	1	0	4	2	4	1	4	0	3	1	4	0	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:12122460A>T	ENST00000379388.2	+	4	2764	c.2432A>T	c.(2431-2433)aAg>aTg	p.K811M		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	811					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GATATACCGAAGTCACCTTTC	0.398																																																	0													147	137	140					6																	12122460		1894	4114	6008	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2432A>T	6.37:g.12122460A>T	ENSP00000368698:p.Lys811Met		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K811M	ENST00000379388.2	37	c.2432	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	A	22.7	4.326954	0.81690	.	.	ENSG00000095951	ENST00000379388	T	0.10860	2.83	6.01	6.01	0.97437	.	0.000000	0.38111	N	0.001817	T	0.27832	0.0685	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02345	-1.1173	9	.	.	.	-30.6902	16.5285	0.84344	1.0:0.0:0.0:0.0	.	811	P15822	ZEP1_HUMAN	M	811	ENSP00000368698:K811M	.	K	+	2	0	HIVEP1	12230446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.339000	0.96797	2.307000	0.77673	0.528000	0.53228	AAG	HIVEP1	-	NULL	ENSG00000095951		0.398	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	23	0	A	NM_002114		12122460	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	T	T	12122460	A	T	12122460	3	4	21	1	0	0	0	0	1	0	0	0	7213	72	3	5	2442	5	HIVEP1	6	12122460	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	1318471	12122460	158992607	166	5553											
OR12D2	26529	genome.wustl.edu	37	chr6	29364598	29364598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcagtgtgactgggaatgGagccgttctgatgattgtca	9	12	13	7	1	3	3	2	3	1	0	3	5	3	5	1	2	1	1	1	2	1	2	rs111677372		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:29364598G>T	ENST00000383555.2	+	1	183	c.122G>T	c.(121-123)gGa>gTa	p.G41V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ACTGGGAATGGAGCCGTTCTG	0.463																																																	0													132	143	139					6																	29364598		1510	2709	4219	SO:0001583	missense	0				CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"GPCR / Class A : Olfactory receptors"	8178	protein-coding gene	gene with protein product			"olfactory receptor, family 12, subfamily D, member 2"				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.122G>T	6.37:g.29364598G>T	ENSP00000373047:p.Gly41Val		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G41V	ENST00000383555.2	37	c.122	CCDS4659.1	6	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.920012	0.00055	.	.	ENSG00000168787	ENST00000383555	T	0.00433	7.43	4.07	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000020	T	0.00073	0.0002	N	0.20304	0.555	0.18873	N	0.999987	B	0.27971	0.196	B	0.28385	0.089	T	0.07139	-1.0788	10	0.21540	T	0.41	.	8.9547	0.35809	0.0:0.1335:0.3228:0.5437	.	41	P58182	O12D2_HUMAN	V	41	ENSP00000373047:G41V	ENSP00000373047:G41V	G	+	2	0	OR12D2	29472577	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.812000	0.27211	0.007000	0.14760	-0.718000	0.03613	GGA	OR12D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168787		0.463	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	HGNC	protein_coding	OTTHUMT00000076054.2	-	0	64	0	G			29364598	1	tier1	-	no_errors	ENST00000383555	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.001	T	T	29364598	G	T	29364598	3	4	21	1	0	0	0	0	1	0	0	0	10970	1174	41	3	124	3	OR12D2	6	29364598	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	17242138	29364598	141750469	167	5554											
DNAH8	1769	genome.wustl.edu	37	chr6	38919237	38919237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctctgatatgcttccTgtccatgggatctgacccca	8	11	8	14	0	2	2	0	2	2	0	4	4	4	3	5	1	1	1	5	1	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:38919237T>G	ENST00000359357.3	+	80	11995	c.11741T>G	c.(11740-11742)cTg>cGg	p.L3914R	DNAH8_ENST00000441566.1_Missense_Mutation_p.L3878R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L4131R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3914	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGCTTCCTGTCCATGGGA	0.418																																																	0													209	219	215					6																	38919237		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11741T>G	6.37:g.38919237T>G	ENSP00000352312:p.Leu3914Arg		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3914R	ENST00000359357.3	37	c.11741		6	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690938	0.88735	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.14144	2.53;2.53;2.53	5.69	5.69	0.88448	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.52108	0.1714	H	0.99211	4.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74680	-0.3584	10	0.87932	D	0	.	16.2433	0.82426	0.0:0.0:0.0:1.0	.	3878;3914	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	R	4119;4119;3914;3878	ENSP00000333363:L4119R;ENSP00000352312:L3914R;ENSP00000402294:L3878R	ENSP00000333363:L4119R	L	+	2	0	DNAH8	39027215	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.905000	0.87416	2.296000	0.77279	0.533000	0.62120	CTG	DNAH8	-	pfam_Dynein_heavy_dom	ENSG00000124721		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	25	0	T	NM_001206927		38919237	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	G	G	38919237	T	G	38919237	3	3	21	1	0	0	0	0	1	0	0	0	4621	1580	55	4	12051	4	DNAH8	6	38919237	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	9554639	38919237	132195830	168	5555											
HCRTR2	3062	genome.wustl.edu	37	chr6	55039452	55039452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctgcttcggagctgaatGaaactcaagagcccttttta	11	12	8	10	1	2	3	1	2	1	1	3	4	2	4	1	1	4	2	1	1	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:55039452G>A	ENST00000370862.3	+	1	403	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	23					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGAGCTGAATGAAACTCAAGA	0.542																																																	0													129	121	124					6																	55039452		2203	4300	6503	SO:0001583	missense	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.67G>A	6.37:g.55039452G>A	ENSP00000359899:p.Glu23Lys		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.E23K	ENST00000370862.3	37	c.67	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588696	0.28357	.	.	ENSG00000137252	ENST00000370862	T	0.60548	0.18	4.89	3.93	0.45458	.	0.541698	0.19651	N	0.109205	T	0.21062	0.0507	L	0.29908	0.895	0.24121	N	0.99581	B	0.15141	0.012	B	0.09377	0.004	T	0.08994	-1.0695	10	0.06236	T	0.91	.	13.7559	0.62937	0.0862:0.0:0.9138:0.0	.	23	O43614	OX2R_HUMAN	K	23	ENSP00000359899:E23K	ENSP00000359899:E23K	E	+	1	0	HCRTR2	55147411	0.995000	0.38212	0.967000	0.41034	0.990000	0.78478	4.710000	0.61873	2.541000	0.85698	0.563000	0.77884	GAA	HCRTR2	-	NULL	ENSG00000137252		0.542	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0	47	0	G			55039452	1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.555	A	A	55039452	G	A	55039452	3	1	21	1	0	0	0	0	1	0	0	0	7029	1291	45	3	69	3	HCRTR2	6	55039452	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	16120215	55039452	116075615	169	5556											
PTP4A1	7803	genome.wustl.edu	37	chr6	64289199	64289199	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctagcattaattgaaggtGgaatgaaatacgaagatgca	16	9	10	6	1	0	3	0	2	0	1	0	5	0	4	1	2	3	2	1	2	7	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:64289199G>T	ENST00000370651.3	+	5	1520	c.367G>T	c.(367-369)Gga>Tga	p.G123*	PTP4A1_ENST00000370650.2_Intron	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	123	Interaction with ATF5. {ECO:0000250}.|Tyrosine-protein phosphatase.				cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			AATTGAAGGTGGAATGAAATA	0.328																																					Pancreas(91;1019 1502 28028 38110 51645)												0													123	114	117					6																	64289199		2203	4300	6503	SO:0001587	stop_gained	0			U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.367G>T	6.37:g.64289199G>T	ENSP00000359685:p.Gly123*		B2R6C8|O00648|Q49A54	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.G123*	ENST00000370651.3	37	c.367	CCDS4965.1	6	.	.	.	.	.	.	.	.	.	.	G	47	13.566667	0.99750	.	.	ENSG00000112245	ENST00000370651	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.5203	20.394	0.98981	0.0:0.0:1.0:0.0	.	.	.	.	X	123	.	ENSP00000359685:G123X	G	+	1	0	PTP4A1	64347158	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.966000	0.87956	2.830000	0.97506	0.585000	0.79938	GGA	PTP4A1	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	ENSG00000112245		0.328	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A1	HGNC	protein_coding	OTTHUMT00000041083.2	-	0	35	0	G			64289199	1	tier1	-	no_errors	ENST00000370651	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	1.000	T	T	64289199	G	T	64289199	4	4	21	1	0	0	0	0	0	1	0	0	12813	1349	47	3	381	3	PTP4A1	6	64289199	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9249747	64289199	106825868	170	5557											
EYS	346007	genome.wustl.edu	37	chr6	65300411	65300411	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtggtgacttctgaaaaAtcaggcactgagcctgtcaa	11	11	11	8	0	3	3	2	3	1	0	3	3	3	3	1	3	1	1	1	3	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:65300411A>C	ENST00000370621.3	-	26	5875	c.5349T>G	c.(5347-5349)gaT>gaG	p.D1783E	EYS_ENST00000370616.2_Missense_Mutation_p.D1783E|EYS_ENST00000503581.1_Missense_Mutation_p.D1783E			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1783					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCTGAAAAATCAGGCACTG	0.373																																																	0													107	101	103					6																	65300411		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.5349T>G	6.37:g.65300411A>C	ENSP00000359655:p.Asp1783Glu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D1783E	ENST00000370621.3	37	c.5349		6	.	.	.	.	.	.	.	.	.	.	A	11.50	1.656809	0.29425	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84298	-1.83;-1.8;-1.8	5.87	-2.75	0.05914	.	.	.	.	.	T	0.48677	0.1513	N	0.08118	0	0.09310	N	1	P;B	0.42518	0.782;0.132	B;B	0.39465	0.3;0.051	T	0.50423	-0.8830	9	0.87932	D	0	.	4.3913	0.11341	0.4421:0.0:0.2645:0.2934	.	1783;1783	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	E	1783	ENSP00000424243:D1783E;ENSP00000359655:D1783E;ENSP00000359650:D1783E	ENSP00000359650:D1783E	D	-	3	2	EYS	65357132	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	0.031000	0.13710	-0.095000	0.12351	0.482000	0.46254	GAT	EYS	-	NULL	ENSG00000188107		0.373	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	18	0	A	XM_294050		65300411	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.000	C	C	65300411	A	C	65300411	3	2	21	1	0	0	0	0	1	0	0	0	5348	98	4	4	4002	4	EYS	6	65300411	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	1011212	65300411	105814656	171	5558											
TMEM30A	55754	genome.wustl.edu	37	chr6	75974998	75974998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcatctcgagatttcacGtaacgacgatggttttgata	11	14	8	8	4	3	2	2	1	1	1	4	5	3	2	0	1	1	2	0	1	3	6	rs370998387		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:75974998G>A	ENST00000230461.6	-	3	731	c.402C>T	c.(400-402)taC>taT	p.Y134Y	TMEM30A_ENST00000475111.2_Silent_p.Y98Y|TMEM30A_ENST00000370050.5_Silent_p.Y15Y	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	134					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGATTTCACGTAACGACGAT	0.299																																																	0													77	75	76					6																	75974998		2203	4297	6500	SO:0001819	synonymous_variant	0			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.402C>T	6.37:g.75974998G>A			A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Silent	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.Y134	ENST00000230461.6	37	c.402	CCDS4983.1	6																																																																																			TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	ENSG00000112697		0.299	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2	-	0	33	0	G	NM_018247		75974998	-1	tier1	-	no_errors	ENST00000230461	ensembl	human	known	74_37	silent	23.73	45	14	SNP	0.953	A	A	75974998	G	A	75974998	2	1	21	1	0	0	0	0	0	0	0	1	16200	1140	40	1		1	TMEM30A	6	75974998	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10674587	75974998	95140069	172	5559											
ZNF292	23036	genome.wustl.edu	37	chr6	87968551	87968551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaatgatggctttgaattCatgcacaacttcaataaatt	15	13	5	8	0	2	2	2	2	0	0	2	2	2	2	1	1	2	2	1	1	6	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:87968551C>T	ENST00000369577.3	+	8	5247	c.5204C>T	c.(5203-5205)tCa>tTa	p.S1735L	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1730L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1735						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTTTGAATTCATGCACAACT	0.313																																																	0													34	33	33					6																	87968551		1807	4069	5876	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5204C>T	6.37:g.87968551C>T	ENSP00000358590:p.Ser1735Leu		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1735L	ENST00000369577.3	37	c.5204	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593101	0.66219	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.09817	2.94;2.95	5.89	5.89	0.94794	.	0.091610	0.44688	D	0.000428	T	0.09113	0.0225	N	0.24115	0.695	0.45284	D	0.998289	D	0.53151	0.958	P	0.49252	0.604	T	0.06588	-1.0818	10	0.87932	D	0	.	20.2625	0.98452	0.0:1.0:0.0:0.0	.	1735	O60281	ZN292_HUMAN	L	1735;1730	ENSP00000358590:S1735L;ENSP00000342847:S1730L	ENSP00000342847:S1730L	S	+	2	0	ZNF292	88025270	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.784000	0.68990	2.782000	0.95742	0.557000	0.71058	TCA	ZNF292	-	NULL	ENSG00000188994		0.313	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0	22	0	C	NM_015021		87968551	1			no_errors	ENST00000369577	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	87968551	C	T	87968551	3	4	21	1	0	0	0	0	1	0	0	0	17874	838	29	3	5234	3	ZNF292	6	87968551	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	11993553	87968551	83146516	173	5560											
CNR1	1268	genome.wustl.edu	37	chr6	88853810	88853810	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcctcagagcatagatgAtggggttcacggtggagttc	9	11	13	8	1	2	3	2	1	0	2	4	4	3	4	1	4	2	3	1	4	2	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:88853810A>T	ENST00000537554.1	-	2	4746	c.1184T>A	c.(1183-1185)aTc>aAc	p.I395N	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.I334N|CNR1_ENST00000369501.2_Missense_Mutation_p.I395N|CNR1_ENST00000535130.1_Missense_Mutation_p.I395N|CNR1_ENST00000428600.2_Missense_Mutation_p.I395N|CNR1_ENST00000369499.2_Missense_Mutation_p.I395N|CNR1_ENST00000468898.1_Missense_Mutation_p.I362N|CNR1_ENST00000549890.1_Missense_Mutation_p.I395N	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	395					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGCATAGATGATGGGGTTCAC	0.512																																																	0													125	114	118					6																	88853810		2203	4300	6503	SO:0001583	missense	0			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"GPCR / Class A : Cannabinoid receptors"	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1184T>A	6.37:g.88853810A>T	ENSP00000441046:p.Ile395Asn		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.I395N	ENST00000537554.1	37	c.1184	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	A	18.23	3.579038	0.65878	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	5.94	5.94	0.96194	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66771	0.2823	M	0.84683	2.71	0.80722	D	1	D;D	0.69078	0.994;0.997	P;D	0.69824	0.9;0.966	T	0.73613	-0.3927	10	0.87932	D	0	.	16.3932	0.83546	1.0:0.0:0.0:0.0	.	362;395	P21554-3;P21554	.;CNR1_HUMAN	N	395;395;395;395;395;362;395;334	ENSP00000358513:I395N;ENSP00000442689:I395N;ENSP00000441046:I395N;ENSP00000358511:I395N;ENSP00000446819:I395N;ENSP00000420188:I362N;ENSP00000412192:I395N;ENSP00000449549:I334N	ENSP00000358511:I395N	I	-	2	0	CNR1	88910529	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	9.309000	0.96252	2.267000	0.75376	0.533000	0.62120	ATC	CNR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000118432		0.512	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	-	0	24	0	A			88853810	-1	tier1	-	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	T	T	88853810	A	T	88853810	3	4	21	1	0	0	0	0	1	0	0	0	3638	333	12	5	238	5	CNR1	6	88853810	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	885259	88853810	82261257	174	5561											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90575968	90575968	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagacagtaggaaaacaCatgtaagaatccatcagacc	20	6	7	8	0	1	3	1	0	0	3	2	4	2	4	2	1	1	2	2	1	7	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:90575968C>G	ENST00000551025.1	+	0	4396									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAGGAAAACACATGTAAGAAT	0.378																																					Colon(187;1656 2025 17045 31481 39901)												0													46	42	43					6																	90575968		1862	4106	5968			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90575968C>G				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.378	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		-	0	20	0	C	NM_001137667		90575968	1	tier1	-	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	42.86	12	9	SNP	0.007	G	G	90575968	C	G	90575968	1	3	21	0	1	0	0	0	0	0	0	0	2685	478	17	5		5	CASP8AP2	6	90575968	RNA	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1722158	90575968	80539099	175	5562											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90577632	90577632	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagtccaatgatcatttCattgtgaaaatacgacgtgc	15	11	8	7	2	2	2	2	2	0	0	3	4	3	2	1	0	2	0	1	0	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:90577632C>G	ENST00000551025.1	+	0	6060									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATGATCATTTCATTGTGAAAA	0.438																																					Colon(187;1656 2025 17045 31481 39901)												0													127	114	118					6																	90577632		1934	4140	6074			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577632C>G				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.438	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		-	0	44	0	C	NM_001137667		90577632	1	tier1	-	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	29.79	33	14	SNP	1.000	G	G	90577632	C	G	90577632	1	3	21	0	1	0	0	0	0	0	0	0	2685	825	29	5		5	CASP8AP2	6	90577632	RNA	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1664	90577632	80537435	176	5563											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90578545	90578545	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgatctaaatcatcctCataaaaaacaaagaaaggaa	20	10	4	7	0	4	2	2	1	2	1	5	3	5	3	1	1	1	0	1	1	8	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:90578545C>G	ENST00000551025.1	+	0	6973									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AAATCATCCTCATAAAAAACA	0.358																																					Colon(187;1656 2025 17045 31481 39901)												0													43	40	41					6																	90578545		1815	4079	5894			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578545C>G				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		-	0	15	0	C	NM_001137667		90578545	1	tier1	-	no_errors	ENST00000237177	ensembl	human	known	74_37	rna	30.00	14	6	SNP	0.930	G	G	90578545	C	G	90578545	1	3	21	0	1	0	0	0	0	0	0	0	2685	826	29	5		5	CASP8AP2	6	90578545	RNA	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	913	90578545	80536522	177	5564											
AKD1	221264	genome.wustl.edu	37	chr6	109935625	109935625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtgttgcctccattggGaatactccaaactccatttt	9	14	8	10	0	0	0	0	0	0	0	3	2	3	1	4	1	3	1	4	1	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:109935625G>T	ENST00000424296.2	-	14	1534	c.1458C>A	c.(1456-1458)ttC>ttA	p.F486L	AK9_ENST00000368948.2_Missense_Mutation_p.F486L|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	486					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CCTCCATTGGGAATACTCCAA	0.343																																																	0													139	116	123					6																	109935625		692	1591	2283	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.1458C>A	6.37:g.109935625G>T	ENSP00000410186:p.Phe486Leu		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F486L	ENST00000424296.2	37	c.1458	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	G	2.748	-0.260714	0.05791	.	.	ENSG00000155085	ENST00000424296;ENST00000368948	T;T	0.64803	-0.02;-0.12	2.32	1.4	0.22301	.	1.607090	0.03997	N	0.295795	T	0.21550	0.0519	N	0.17082	0.46	0.18873	N	0.999985	B	0.06786	0.001	B	0.04013	0.001	T	0.08576	-1.0715	9	.	.	.	-0.642	6.1057	0.20071	0.0:0.0:0.6968:0.3032	.	486	Q5TCS8	AKD1_HUMAN	L	486	ENSP00000410186:F486L;ENSP00000357944:F486L	.	F	-	3	2	AKD1	110042318	0.001000	0.12720	0.013000	0.15412	0.002000	0.02628	0.624000	0.24462	0.509000	0.28195	-0.293000	0.09583	TTC	AK9	-	superfamily_P-loop_NTPase	ENSG00000155085		0.343	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0	32	0	G	NM_001145128		109935625	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.015	T	T	109935625	G	T	109935625	3	4	21	1	0	0	0	0	1	0	0	0	460	1165	41	3	4389	3	AKD1	6	109935625	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	19357080	109935625	61179442	178	5565											
FIG4	9896	genome.wustl.edu	37	chr6	110112718	110112718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagagggctctgtgtctCagcgctccactcccgtgaag	9	8	12	12	2	2	3	1	1	2	2	5	3	4	3	2	1	1	2	2	1	3	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:110112718C>T	ENST00000230124.3	+	20	2444	c.2320C>T	c.(2320-2322)Cag>Tag	p.Q774*	FIG4_ENST00000441478.2_Nonsense_Mutation_p.Q497*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	774					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CTCTGTGTCTCAGCGCTCCAC	0.642																																																	0													57	58	58					6																	110112718		2203	4300	6503	SO:0001587	stop_gained	0			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"KIAA0274", "FIG4 homolog (S. cerevisiae)", "FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2320C>T	6.37:g.110112718C>T	ENSP00000230124:p.Gln774*		Q53H49|Q5TCS6	Nonsense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.Q774*	ENST00000230124.3	37	c.2320	CCDS5078.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.213125	0.98709	.	.	ENSG00000112367	ENST00000441478;ENST00000230124;ENST00000419951	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-18.3716	20.2187	0.98312	0.0:1.0:0.0:0.0	.	.	.	.	X	497;774;81	.	ENSP00000230124:Q774X	Q	+	1	0	FIG4	110219411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	CAG	FIG4	-	NULL	ENSG00000112367		0.642	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	-	0	20	0	C	NM_014845		110112718	1	tier1	-	no_errors	ENST00000230124	ensembl	human	known	74_37	nonsense	21.74	18	5	SNP	1.000	T	T	110112718	C	T	110112718	4	4	21	1	0	0	0	0	0	1	0	0	5910	827	29	3	2398	3	FIG4	6	110112718	Nonsense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	177093	110112718	61002349	179	5566											
CDC40	51362	genome.wustl.edu	37	chr6	110534290	110534290	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtaatacctttttataggGcgtcagtgcagtcagattgt	9	15	10	7	1	2	1	2	0	0	1	2	1	2	1	1	1	2	2	1	1	4	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:110534290G>T	ENST00000368932.1	+	9	970	c.869G>T	c.(868-870)gGc>gTc	p.G290V	CDC40_ENST00000368930.1_Splice_Site_p.G290V|CDC40_ENST00000307731.1_Splice_Site_p.G290V			O60508	PRP17_HUMAN	cell division cycle 40	290					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTTTTATAGGGCGTCAGTGCA	0.378																																																	0													197	173	181					6																	110534290		2203	4300	6503	SO:0001630	splice_region_variant	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.868-1G>T	6.37:g.110534290G>T			B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G290V	ENST00000368932.1	37	c.869	CCDS5081.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241744	0.79912	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.8	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047815	0.85682	D	0.000000	T	0.64461	0.2600	L	0.51914	1.62	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.69957	-0.5004	10	0.66056	D	0.02	-15.0156	16.6781	0.85284	0.0:0.1298:0.8702:0.0	.	290	O60508	PRP17_HUMAN	V	290	ENSP00000357928:G290V;ENSP00000357929:G290V;ENSP00000357926:G290V;ENSP00000304370:G290V	ENSP00000304370:G290V	G	+	2	0	CDC40	110640983	1.000000	0.71417	0.852000	0.33557	0.952000	0.60782	9.042000	0.93793	1.410000	0.46936	0.563000	0.77884	GGC	CDC40	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000168438		0.378	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1		0	67	0	G	NM_015891	Missense_Mutation	110534290	1			no_errors	ENST00000307731	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.998	T	T	110534290	G	T	110534290	5	4	21	1	0	0	0	0	0	0	1	0	3077	1217	42	3	899	3	CDC40	6	110534290	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	421572	110534290	60580777	180	5567											
TSPYL4	23270	genome.wustl.edu	37	chr6	116574213	116574213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagacaccacccggccaGaggatctgcgttcatattcc	12	7	9	13	2	2	2	1	0	1	2	3	4	3	3	4	2	1	1	4	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:116574213G>T	ENST00000420283.1	-	1	1048	c.959C>A	c.(958-960)tCt>tAt	p.S320Y	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	320					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CACCCGGCCAGAGGATCTGCG	0.537																																																	0													81	80	80					6																	116574213		1937	4170	6107	SO:0001583	missense	0				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.959C>A	6.37:g.116574213G>T	ENSP00000410943:p.Ser320Tyr		B4DYQ2|O94828|Q96GW8	Missense_Mutation	SNP	pfam_NAP_family	p.S320Y	ENST00000420283.1	37	c.959	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320464	0.41096	.	.	ENSG00000187189	ENST00000420283	T	0.27256	1.68	3.98	3.11	0.35812	.	0.774949	0.10130	U	0.712186	T	0.27559	0.0677	M	0.71206	2.165	0.27693	N	0.946052	P	0.41546	0.754	P	0.54431	0.752	T	0.18209	-1.0344	10	0.59425	D	0.04	-4.9977	7.8066	0.29206	0.1118:0.0:0.8882:0.0	.	320	Q9UJ04	TSYL4_HUMAN	Y	320	ENSP00000410943:S320Y	ENSP00000410943:S320Y	S	-	2	0	TSPYL4	116680906	0.999000	0.42202	0.853000	0.33588	0.469000	0.32828	3.634000	0.54302	1.268000	0.44264	0.462000	0.41574	TCT	TSPYL4	-	pfam_NAP_family	ENSG00000187189		0.537	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2		0	42	0	G			116574213	-1			no_errors	ENST00000420283	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.861	T	T	116574213	G	T	116574213	3	4	21	1	0	0	0	0	1	0	0	0	16709	942	33	3	289	3	TSPYL4	6	116574213	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6039923	116574213	54540854	181	5568											
ROS1	6098	genome.wustl.edu	37	chr6	117686360	117686360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagagtgttgttcactaGccaagaactaaaatataaac	18	10	7	6	0	1	2	1	0	0	2	1	2	1	2	1	0	3	3	1	0	10	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:117686360G>T	ENST00000368508.3	-	20	3179	c.2981C>A	c.(2980-2982)gCt>gAt	p.A994D	ROS1_ENST00000368507.3_Missense_Mutation_p.A989D|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	994	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGTTCACTAGCCAAGAACTA	0.338			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													54	53	54					6																	117686360		2203	4300	6503	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2981C>A	6.37:g.117686360G>T	ENSP00000357494:p.Ala994Asp		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A994D	ENST00000368508.3	37	c.2981	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	5.084	0.201153	0.09652	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.53640	0.61;0.61	5.73	1.46	0.22682	.	1.024070	0.07757	N	0.949481	T	0.11623	0.0283	N	0.08118	0	0.34315	D	0.685956	B	0.02656	0.0	B	0.01281	0.0	T	0.08249	-1.0731	10	0.62326	D	0.03	.	5.2827	0.15684	0.1624:0.0:0.4431:0.3945	.	994	P08922	ROS1_HUMAN	D	994;989	ENSP00000357494:A994D;ENSP00000357493:A989D	ENSP00000357493:A989D	A	-	2	0	ROS1	117793053	0.963000	0.33076	0.994000	0.49952	0.412000	0.31113	1.106000	0.31098	0.683000	0.31428	0.655000	0.94253	GCT	ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000047936		0.338	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1		0	43	0	G			117686360	-1			no_errors	ENST00000368508	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.656	T	T	117686360	G	T	117686360	3	4	21	1	0	0	0	0	1	0	0	0	13576	971	34	3	4158	3	ROS1	6	117686360	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1112147	117686360	53428707	182	5569											
CENPW	387103	genome.wustl.edu	37	chr6	126667418	126667418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacaaacgcttgtgcgaGtaaatgtagagtcattaaca	15	9	10	7	2	1	1	1	0	0	1	1	3	1	2	0	1	3	3	0	1	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:126667418G>T	ENST00000368328.4	+	2	294	c.194G>T	c.(193-195)aGt>aTt	p.S65I	CENPW_ENST00000368325.1_Missense_Mutation_p.S80I|CENPW_ENST00000368326.1_Missense_Mutation_p.V52L			Q5EE01	CENPW_HUMAN	centromere protein W	65					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						GCTTGTGCGAGTAAATGTAGA	0.373																																																	0													116	111	112					6																	126667418		2203	4300	6503	SO:0001583	missense	0			BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.194G>T	6.37:g.126667418G>T	ENSP00000357311:p.Ser65Ile		A6NIR0|A6NJC2	Missense_Mutation	SNP	NULL	p.S80I	ENST00000368328.4	37	c.239	CCDS34529.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.22|13.22	2.171383|2.171383	0.38315|0.38315	.|.	.|.	ENSG00000203760|ENSG00000203760	ENST00000368325;ENST00000368328|ENST00000368326	T|.	0.24538|.	1.85|.	5.61|5.61	-2.0|-2.0	0.07433|0.07433	Histone-fold (1);|.	0.660498|.	0.13340|.	N|.	0.395230|.	T|T	0.30230|0.30230	0.0758|0.0758	.|.	.|.	.|.	0.27958|0.27958	N|N	0.936893|0.936893	P|.	0.35656|.	0.514|.	B|.	0.38056|.	0.264|.	T|T	0.43180|0.43180	-0.9407|-0.9407	9|5	0.72032|0.87932	D|D	0.01|0	-13.5418|-13.5418	9.9205|9.9205	0.41462|0.41462	0.5359:0.0:0.4641:0.0|0.5359:0.0:0.4641:0.0	.|.	65|.	Q5EE01|.	CENPW_HUMAN|.	I|L	80;65|52	ENSP00000357311:S65I|.	ENSP00000357308:S80I|ENSP00000357309:V52L	S|V	+|+	2|1	0|0	CENPW|CENPW	126709111|126709111	0.856000|0.856000	0.29760|0.29760	0.919000|0.919000	0.36401|0.36401	0.529000|0.529000	0.34654|0.34654	-0.185000|-0.185000	0.09684|0.09684	-0.197000|-0.197000	0.10350|0.10350	-0.440000|-0.440000	0.05779|0.05779	AGT|GTA	CENPW	-	NULL	ENSG00000203760		0.373	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPW	HGNC	protein_coding	OTTHUMT00000042104.1		0	20	0	G			126667418	1			no_errors	ENST00000368325	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.954	T	T	126667418	G	T	126667418	3	4	21	1	0	0	0	0	1	0	0	0	3251	1029	36	3	200	3	CENPW	6	126667418	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8981058	126667418	44447649	183	5570											
CTAGE9	643854	genome.wustl.edu	37	chr6	132031038	132031038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcttctgattctcactttCaaaatatatgttttctgatt	11	19	4	7	0	4	2	2	2	3	0	5	2	4	2	0	0	1	2	0	0	5	8	rs556536036		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:132031038C>G	ENST00000314099.8	-	1	1168	c.1120G>C	c.(1120-1122)Gaa>Caa	p.E374Q	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	374						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TTCTCACTTTCAAAATATATG	0.313													c|||	1	0.000199681	0	0	5008	,	,		22859	0		0	False		,,,				2504	0.001																0													2	2	2					6																	132031038		546	1224	1770	SO:0001583	missense	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1120G>C	6.37:g.132031038C>G	ENSP00000395587:p.Glu374Gln			Missense_Mutation	SNP	NULL	p.E374Q	ENST00000314099.8	37	c.1120	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	8.997	0.979109	0.18812	.	.	ENSG00000236761	ENST00000314099	T	0.38722	1.12	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.91406	3.205	0.23381	N	0.997796	D	0.76494	0.999	D	0.79784	0.993	T	0.36672	-0.9738	8	0.87932	D	0	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	374	A4FU28	CTGE9_HUMAN	Q	374	ENSP00000395587:E374Q	ENSP00000395587:E374Q	E	-	1	0	CTAGE9	132072731	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	1.221000	0.32503	-0.000000	0.14550	0.000000	0.15137	GAA	CTAGE9	-	NULL	ENSG00000236761		0.313	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	-	0	54	0	C	NM_001145659		132031038	-1	tier1	-	no_errors	ENST00000314099	ensembl	human	known	74_37	missense	25.42	44	15	SNP	0.684	G	G	132031038	C	G	132031038	3	3	21	1	0	0	0	0	1	0	0	0	4005	835	29	5	1217	5	CTAGE9	6	132031038	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	5363620	132031038	39084029	184	5571											
MYB	4602	genome.wustl.edu	37	chr6	135507099	135507099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaccatgactatgatGggctgcttcccaagtctgga	8	12	12	9	0	1	3	0	3	1	0	2	4	2	4	2	2	1	2	2	2	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:135507099G>T	ENST00000367814.4	+	2	268	c.82G>T	c.(82-84)Ggg>Tgg	p.G28W	MYB_ENST00000534044.1_Missense_Mutation_p.G28W|MYB_ENST00000341911.5_Missense_Mutation_p.G28W|MYB_ENST00000527615.1_Missense_Mutation_p.G28W|MYB_ENST00000533624.1_Missense_Mutation_p.G28W|MYB_ENST00000525369.1_Missense_Mutation_p.G28W|MYB_ENST00000420123.2_Missense_Mutation_p.G28W|MYB_ENST00000534121.1_Missense_Mutation_p.G28W|MYB_ENST00000442647.2_Missense_Mutation_p.G28W|MYB_ENST00000316528.8_Missense_Mutation_p.G28W|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Missense_Mutation_p.G28W	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	28					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGACTATGATGGGCTGCTTCC	0.453			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													155	141	146					6																	135507099		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.82G>T	6.37:g.135507099G>T	ENSP00000356788:p.Gly28Trp		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.G28W	ENST00000367814.4	37	c.82	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591919	0.86953	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.32753	2.69;2.2;2.19;2.2;1.44;1.91;2.69;2.69;1.86;2.22	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.997;0.999;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.985;0.992;0.994;0.958;0.982;0.996;0.958;0.991	T	0.49969	-0.8882	10	0.72032	D	0.01	-10.4013	18.9715	0.92716	0.0:0.0:1.0:0.0	.	28;28;28;28;28;28;28;28;28	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	W	28	ENSP00000339992:G28W;ENSP00000410825:G28W;ENSP00000326328:G28W;ENSP00000356788:G28W;ENSP00000433227:G28W;ENSP00000435938:G28W;ENSP00000434723:G28W;ENSP00000432851:G28W;ENSP00000435055:G28W;ENSP00000436605:G28W	ENSP00000237302:G28W	G	+	1	0	MYB	135548792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.561000	0.86390	0.563000	0.77884	GGG	MYB	-	NULL	ENSG00000118513		0.453	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0	53	0	G			135507099	1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	135507099	G	T	135507099	3	4	21	1	0	0	0	0	1	0	0	0	10045	1348	47	3	88	3	MYB	6	135507099	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3476061	135507099	35607968	185	5572											
MAP3K5	4217	genome.wustl.edu	37	chr6	137015331	137015331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaattagagtccaaaaaCatatctttgtagattcgacc	15	12	7	7	1	1	3	0	1	1	2	3	4	2	3	2	0	1	1	2	0	6	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:137015331C>T	ENST00000359015.4	-	7	1560	c.1200G>A	c.(1198-1200)atG>atA	p.M400I		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	400					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGTCCAAAAACATATCTTTGT	0.378																																																	0													116	109	111					6																	137015331		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1200G>A	6.37:g.137015331C>T	ENSP00000351908:p.Met400Ile		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M400I	ENST00000359015.4	37	c.1200	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435717	0.25813	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.08720	3.06	5.43	4.55	0.56014	.	0.113853	0.85682	D	0.000000	T	0.01695	0.0054	N	0.17631	0.505	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.15052	0.012;0.004;0.005	T	0.37549	-0.9701	10	0.09590	T	0.72	.	9.9291	0.41512	0.1389:0.7886:0.0:0.0726	.	480;245;400	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	I	400;480	ENSP00000351908:M400I	ENSP00000351908:M400I	M	-	3	0	MAP3K5	137057024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.391000	0.34475	1.400000	0.46741	0.591000	0.81541	ATG	MAP3K5	-	NULL	ENSG00000197442		0.378	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	49	0	C			137015331	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	16.92	54	11	SNP	1.000	T	T	137015331	C	T	137015331	3	4	21	1	0	0	0	0	1	0	0	0	9291	478	17	3	3020	3	MAP3K5	6	137015331	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1508232	137015331	34099736	186	5573											
ESR1	2099	genome.wustl.edu	37	chr6	152415668	152415668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccagcggctggcccaGctcctcctcatcctctccca	6	7	7	21	1	2	0	1	0	1	0	6	0	5	0	6	2	3	3	6	2	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:152415668G>T	ENST00000206249.3	+	7	1880	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	ESR1_ENST00000456483.2_Missense_Mutation_p.Q394H|ESR1_ENST00000406599.1_Missense_Mutation_p.Q245H|ESR1_ENST00000440973.1_Missense_Mutation_p.Q506H|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.Q506H|ESR1_ENST00000338799.5_Missense_Mutation_p.Q506H	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	506	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	GGCTGGCCCAGCTCCTCCTCA	0.562																																																	0													50	47	48					6																	152415668		2203	4300	6503	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1518G>T	6.37:g.152415668G>T	ENSP00000206249:p.Gln506His		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.Q506H	ENST00000206249.3	37	c.1518	CCDS5234.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.438210|2.438210	0.43326|0.43326	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000347491|ENST00000440973;ENST00000338799;ENST00000456483;ENST00000443427;ENST00000206249;ENST00000406599;ENST00000431590	.|D;D;D;D;D;D	.|0.96967	.|-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.5|5.5	1.74|1.74	0.24563|0.24563	.|Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95475	.|0.8530	L|L	0.46670|0.46670	1.46|1.46	0.80722|0.80722	D|D	1|1	.|D;B;P;D;B;P;D	.|0.71674	.|0.998;0.011;0.886;0.992;0.126;0.955;0.963	.|D;B;B;P;B;P;P	.|0.87578	.|0.998;0.01;0.279;0.755;0.181;0.815;0.884	.|D	.|0.94201	.|0.7450	.|10	.|0.52906	.|T	.|0.07	.|.	10.4745|10.4745	0.44657|0.44657	0.2634:0.0:0.7366:0.0|0.2634:0.0:0.7366:0.0	.|.	.|71;201;245;433;505;506;506	.|B5LY05;C8CJL6;Q9H2M1;B4E3R5;A8KAF4;G4XH65;P03372	.|.;.;.;.;.;.;ESR1_HUMAN	.|H	-1|506;506;394;506;506;245;434	.|ENSP00000405330:Q506H;ENSP00000342630:Q506H;ENSP00000415934:Q394H;ENSP00000387500:Q506H;ENSP00000206249:Q506H;ENSP00000384064:Q245H	.|ENSP00000206249:Q506H	.|Q	+|+	.|3	.|2	ESR1|ESR1	152457361|152457361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.621000|2.621000	0.46418|0.46418	0.308000|0.308000	0.22923|0.22923	0.555000|0.555000	0.69702|0.69702	.|CAG	ESR1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000091831		0.562	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	-	0	60	0	G			152415668	1	tier1	-	no_errors	ENST00000206249	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	152415668	G	T	152415668	3	4	21	1	0	0	0	0	1	0	0	0	5272	962	34	3	1544	3	ESR1	6	152415668	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	15400337	152415668	18699399	187	5574											
SYNE1	23345	genome.wustl.edu	37	chr6	152675868	152675868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgggactaactttctcctCtgctgttttgagccattcat	6	16	7	12	0	3	1	1	1	2	0	4	2	3	2	3	1	3	2	3	1	1	5	rs577389543		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:152675868C>T	ENST00000367255.5	-	67	11453	c.10852G>A	c.(10852-10854)Gag>Aag	p.E3618K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E3618K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3625K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3589K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3625K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3618					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTTCTCCTCTGCTGTTTTG	0.443										HNSCC(10;0.0054)			C|||	1	0.000199681	0	0	5008	,	,		19972	0		0.001	False		,,,				2504	0																0													252	221	232					6																	152675868		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10852G>A	6.37:g.152675868C>T	ENSP00000356224:p.Glu3618Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E3618K	ENST00000367255.5	37	c.10852	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519167	0.64634	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000017	T	0.62417	0.2426	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.58346	-0.7652	10	0.39692	T	0.17	.	19.5287	0.95219	0.0:1.0:0.0:0.0	.	3618;3618;3618;3625	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	3618;3625;3618;3625;3589	ENSP00000356224:E3618K;ENSP00000396024:E3625K;ENSP00000265368:E3618K;ENSP00000390975:E3625K;ENSP00000341887:E3589K	ENSP00000265368:E3618K	E	-	1	0	SYNE1	152717561	1.000000	0.71417	0.940000	0.37924	0.356000	0.29392	5.726000	0.68515	2.676000	0.91093	0.650000	0.86243	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	90	0	C	NM_182961		152675868	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	18.89	73	17	SNP	1.000	T	T	152675868	C	T	152675868	3	4	21	1	0	0	0	0	1	0	0	0	15492	922	32	3	15934	3	SYNE1	6	152675868	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	260200	152675868	18439199	188	5575											
SYNE1	23345	genome.wustl.edu	37	chr6	152792774	152792774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactgactctctcctcccGtacttaatgatccaagactt	9	13	4	15	1	1	3	0	2	1	1	6	3	5	3	4	0	1	1	4	0	3	3	rs369178017		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:152792774G>A	ENST00000367255.5	-	16	2191	c.1590C>T	c.(1588-1590)taC>taT	p.Y530Y	SYNE1_ENST00000367248.3_Silent_p.Y520Y|SYNE1_ENST00000466159.2_Silent_p.Y530Y|SYNE1_ENST00000265368.4_Silent_p.Y530Y|SYNE1_ENST00000423061.1_Silent_p.Y537Y|SYNE1_ENST00000341594.5_Silent_p.Y537Y|SYNE1_ENST00000448038.1_Silent_p.Y537Y|SYNE1_ENST00000367253.4_Silent_p.Y530Y|SYNE1_ENST00000495090.2_Silent_p.Y97Y|SYNE1_ENST00000413186.2_Silent_p.Y530Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	530					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCCTCCCGTACTTAATGA	0.443										HNSCC(10;0.0054)																																							0								G	,	0,4406		0,0,2203	152	147	149		1611,1590	-6	0.8	6		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SYNE1	NM_033071.3,NM_182961.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	537/8750,530/8798	152792774	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1590C>T	6.37:g.152792774G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Y530	ENST00000367255.5	37	c.1590	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	41	0	G	NM_182961		152792774	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	19.23	42	10	SNP	0.933	A	A	152792774	G	A	152792774	2	1	21	1	0	0	0	0	0	0	0	1	15492	1140	40	1		1	SYNE1	6	152792774	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	116906	152792774	18322293	189	5576											
PHF10	55274	genome.wustl.edu	37	chr6	170117959	170117959	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaatgacatttagctctctCaggtagagtttctccttgtg	8	16	9	8	0	3	2	1	1	2	1	5	2	3	2	1	1	1	4	1	1	3	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr6:170117959C>G	ENST00000339209.4	-	4	492	c.369G>C	c.(367-369)ctG>ctC	p.L123L	PHF10_ENST00000464779.1_5'UTR|PHF10_ENST00000366780.4_Silent_p.L121L	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	123	Essential to induce neural progenitor proliferation. {ECO:0000250}.|SAY.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTAGCTCTCTCAGGTAGAGTT	0.328																																																	0													47	43	44					6																	170117959		2202	4299	6501	SO:0001819	synonymous_variant	0			AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"Zinc fingers, PHD-type"	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.369G>C	6.37:g.170117959C>G			Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L123	ENST00000339209.4	37	c.369	CCDS5308.2	6																																																																																			PHF10	-	NULL	ENSG00000130024		0.328	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF10	HGNC	protein_coding	OTTHUMT00000346732.1	-	0	19	0	C	NM_018288		170117959	-1	tier1	-	no_errors	ENST00000339209	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.987	G	G	170117959	C	G	170117959	2	3	21	1	0	0	0	0	0	0	0	1	11860	813	29	5		5	PHF10	6	170117959	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	17325185	170117959	997108	190	5577											
TTYH3	80727	genome.wustl.edu	37	chr7	2691859	2691859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgctcgccccgcgccGccaaccccttccagcaggtg	4	6	11	20	4	0	0	0	0	0	0	2	0	1	0	8	2	3	2	8	2	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:2691859G>T	ENST00000258796.7	+	8	1115	c.910G>T	c.(910-912)Gcc>Tcc	p.A304S	TTYH3_ENST00000407643.1_Missense_Mutation_p.A272S|TTYH3_ENST00000403167.1_Missense_Mutation_p.A133S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	304					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)	p.A304T(1)|p.A304S(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCCCCGCGCCGCCAACCCCTT	0.652																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											43	34	37					7																	2691859		2203	4300	6503	SO:0001583	missense	0				CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"tweety homolog 3 (Drosophila)"				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.910G>T	7.37:g.2691859G>T	ENSP00000258796:p.Ala304Ser		A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	pfam_Tweety	p.A304S	ENST00000258796.7	37	c.910	CCDS34588.1	7	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.501849	0.00157	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	T;T;T	0.10573	2.86;2.86;2.86	4.1	-4.65	0.03339	.	0.594657	0.18439	N	0.141198	T	0.02380	0.0073	N	0.03608	-0.345	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.19148	0.024;0.007	T	0.34875	-0.9811	10	0.07482	T	0.82	-6.5676	1.0808	0.01642	0.4205:0.1669:0.2314:0.1812	.	133;304	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	S	304;272;133	ENSP00000258796:A304S;ENSP00000385316:A272S;ENSP00000385015:A133S	ENSP00000258796:A304S	A	+	1	0	TTYH3	2658385	0.000000	0.05858	0.009000	0.14445	0.053000	0.15095	-0.872000	0.04219	-1.274000	0.02421	-1.151000	0.01829	GCC	TTYH3	-	pfam_Tweety	ENSG00000136295		0.652	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTYH3	HGNC	protein_coding	OTTHUMT00000325082.2		0	14	0	G	XM_166523		2691859	1			no_errors	ENST00000258796	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.001	T	T	2691859	G	T	2691859	3	4	21	1	0	0	0	0	1	0	0	0	16790	1087	38	2	940	2	TTYH3	7	2691859	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		2691859	156446804	191	5578											
ETV1	2115	genome.wustl.edu	37	chr7	13950874	13950874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaacttaacttctgttctGctgggatgagccaggaagcc	10	10	11	10	0	2	1	0	1	2	0	2	4	2	3	2	2	5	2	2	2	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:13950874G>A	ENST00000430479.1	-	10	1528	c.861C>T	c.(859-861)agC>agT	p.S287S	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Silent_p.S269S|ETV1_ENST00000242066.5_Silent_p.S269S|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000405218.2_Silent_p.S287S|ETV1_ENST00000399357.3_Silent_p.S184S|ETV1_ENST00000405358.4_Silent_p.S301S|ETV1_ENST00000403527.1_Silent_p.S247S|ETV1_ENST00000420159.2_Silent_p.S229S|ETV1_ENST00000343495.5_Silent_p.S269S	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	287					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTCTGTTCTGCTGGGATGAG	0.398			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"																																			Dom	yes		7	7p22	2115	ets variant gene 1		"M, E"	0													81	80	80					7																	13950874		1902	4111	6013	SO:0001819	synonymous_variant	0				CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"ets variant gene 1"			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.861C>T	7.37:g.13950874G>A			A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.S287	ENST00000430479.1	37	c.861	CCDS55088.1	7																																																																																			ETV1	-	pfam_ETS_PEA3_N	ENSG00000006468		0.398	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ETV1	HGNC	protein_coding	OTTHUMT00000326111.1	-	0	32	0	G	NM_004956		13950874	-1	tier1	-	no_errors	ENST00000405218	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A	A	13950874	G	A	13950874	2	1	21	1	0	0	0	0	0	0	0	1	5293	1310	46	3		3	ETV1	7	13950874	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	11259015	13950874	145187789	192	5579											
HDAC9	9734	genome.wustl.edu	37	chr7	18706043	18706043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaaccagtggacagtgatGaagatgctcagatccaggaa	15	6	13	7	0	1	4	1	2	0	2	2	7	2	7	2	3	2	1	2	3	3	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:18706043G>A	ENST00000432645.2	+	11	1666	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	HDAC9_ENST00000406451.4_Missense_Mutation_p.E556K|HDAC9_ENST00000428307.2_Missense_Mutation_p.E512K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E515K|HDAC9_ENST00000456174.2_Missense_Mutation_p.E528K|HDAC9_ENST00000524023.1_Missense_Mutation_p.E479K|HDAC9_ENST00000406072.1_Missense_Mutation_p.E543K|HDAC9_ENST00000417496.2_Missense_Mutation_p.E554K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E559K|HDAC9_ENST00000405010.3_Missense_Mutation_p.E556K	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	556					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGACAGTGATGAAGATGCTCA	0.478											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77	90	86					7																	18706043		2029	4177	6206	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1666G>A	7.37:g.18706043G>A	ENSP00000410337:p.Glu556Lys	727	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.E559K	ENST00000432645.2	37	c.1675	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412578	0.83340	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023	T;T;T;T;T;T;T;T;T;T	0.59502	0.48;0.58;0.27;0.5;0.49;0.26;0.27;0.27;0.57;0.49	5.58	5.58	0.84498	.	0.100699	0.43747	D	0.000524	T	0.61874	0.2382	M	0.69823	2.125	0.58432	D	0.99999	B;B;B;B;B;B;P;B;B;B;B;B;P	0.42871	0.18;0.084;0.275;0.293;0.18;0.189;0.792;0.417;0.094;0.084;0.417;0.287;0.688	B;B;B;B;B;B;B;B;B;B;B;B;B	0.40066	0.017;0.024;0.088;0.054;0.04;0.024;0.318;0.085;0.039;0.024;0.116;0.053;0.169	T	0.66803	-0.5831	10	0.54805	T	0.06	-12.3534	19.5563	0.95349	0.0:0.0:1.0:0.0	.	479;528;556;543;554;559;515;559;556;528;556;556;534	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	K	554;557;556;556;512;543;515;556;559;528;479	ENSP00000401669:E554K;ENSP00000384382:E556K;ENSP00000384657:E556K;ENSP00000395655:E512K;ENSP00000384017:E543K;ENSP00000383912:E515K;ENSP00000410337:E556K;ENSP00000408617:E559K;ENSP00000388568:E528K;ENSP00000430036:E479K	ENSP00000262069:E557K	E	+	1	0	HDAC9	18672568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.852000	0.92215	2.609000	0.88269	0.650000	0.86243	GAA	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.478	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	31	0	G			18706043	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	A	A	18706043	G	A	18706043	3	1	21	1	0	0	0	0	1	0	0	0	7041	1291	45	3	1717	3	HDAC9	7	18706043	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4755169	18706043	140432620	193	5580											
SKAP2	8935	genome.wustl.edu	37	chr7	26709727	26709727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacccaggactctcaaatatCatacatctccattatgtagg	13	12	5	11	0	3	0	2	0	2	0	5	1	3	1	2	2	2	1	2	2	6	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:26709727C>G	ENST00000345317.2	-	12	1385	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H	SKAP2_ENST00000539623.1_Missense_Mutation_p.D186H	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	358	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						TCTCAAATATCATACATCTCC	0.368																																																	0													107	99	102					7																	26709727		2203	4300	6503	SO:0001583	missense	0				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.1072G>C	7.37:g.26709727C>G	ENSP00000005587:p.Asp358His		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.D358H	ENST00000345317.2	37	c.1072	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012331	0.75046	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.32988	1.43;1.43	5.34	5.34	0.76211	Src homology-3 domain (1);	0.161424	0.53938	D	0.000044	T	0.41834	0.1176	N	0.14661	0.345	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.942	T	0.50389	-0.8834	10	0.87932	D	0	-13.1448	19.0511	0.93046	0.0:1.0:0.0:0.0	.	343;358	B7Z5N4;O75563	.;SKAP2_HUMAN	H	358;186;343	ENSP00000005587:D358H;ENSP00000443593:D186H	ENSP00000005587:D358H	D	-	1	0	SKAP2	26676252	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.058000	0.71126	2.512000	0.84698	0.655000	0.94253	GAT	SKAP2	-	pfscan_SH3_domain	ENSG00000005020		0.368	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	HGNC	protein_coding	OTTHUMT00000214128.1	-	0	72	0	C			26709727	-1	tier1	-	no_errors	ENST00000345317	ensembl	human	known	74_37	missense	31.37	70	32	SNP	1.000	G	G	26709727	C	G	26709727	3	3	21	1	0	0	0	0	1	0	0	0	14401	826	29	5	11	5	SKAP2	7	26709727	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	8003684	26709727	132428936	194	5581											
ANLN	54443	genome.wustl.edu	37	chr7	36447401	36447401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgctaaaagttgtgaggGacaaaatcctgagctacttc	13	11	10	7	0	0	3	0	3	0	0	2	4	1	4	1	1	3	3	1	1	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:36447401G>T	ENST00000265748.2	+	5	1153	c.932G>T	c.(931-933)gGa>gTa	p.G311V	ANLN_ENST00000396068.2_Missense_Mutation_p.G311V|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	311	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGTTGTGAGGGACAAAATCCT	0.388																																																	0													82	88	86					7																	36447401		2203	4300	6503	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.932G>T	7.37:g.36447401G>T	ENSP00000265748:p.Gly311Val		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G311V	ENST00000265748.2	37	c.932	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	G	3.383	-0.125925	0.06795	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.10668	2.88;2.85	4.46	-6.53	0.01866	.	1.536870	0.03584	N	0.230603	T	0.03564	0.0102	N	0.01800	-0.715	0.24703	N	0.99325	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40701	-0.9549	10	0.21014	T	0.42	0.3057	7.6101	0.28124	0.0:0.2059:0.4693:0.3248	.	188;311;311;311	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	V	311	ENSP00000265748:G311V;ENSP00000379380:G311V	ENSP00000265748:G311V	G	+	2	0	ANLN	36413926	0.246000	0.23909	0.016000	0.15963	0.194000	0.23727	-0.170000	0.09897	-1.248000	0.02503	-0.505000	0.04504	GGA	ANLN	-	NULL	ENSG00000011426		0.388	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	-	0	45	0	G	NM_018685		36447401	1	tier1	-	no_errors	ENST00000265748	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.198	T	T	36447401	G	T	36447401	3	4	21	1	0	0	0	0	1	0	0	0	694	1174	41	3	950	3	ANLN	7	36447401	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9737674	36447401	122691262	195	5582											
C7orf36	57002	genome.wustl.edu	37	chr7	39610125	39610125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggttatagagatggaatAgatgctggcaaagcagttac	15	9	13	4	0	0	2	0	0	0	2	0	5	0	3	0	3	3	5	0	3	7	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:39610125A>G	ENST00000223273.2	+	2	193	c.150A>G	c.(148-150)atA>atG	p.I50M	YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000432096.2_Missense_Mutation_p.I50M|YAE1D1_ENST00000448268.1_Missense_Mutation_p.I50M	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	50																	GAGATGGAATAGATGCTGGCA	0.368																																																	0													125	128	127					7																	39610125		2203	4300	6503	SO:0001583	missense	0			AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 36"	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.150A>G	7.37:g.39610125A>G	ENSP00000223273:p.Ile50Met		A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	pfam_Essential_protein_Yae1_N	p.I50M	ENST00000223273.2	37	c.150	CCDS5459.1	7	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555842	0.65425	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	T;T;T	0.53640	0.61;0.61;0.61	6.02	-3.41	0.04839	Essential protein Yae1, N-terminal (1);	0.628649	0.17380	N	0.176324	T	0.43875	0.1267	M	0.82323	2.585	0.28966	N	0.88956	P	0.38335	0.627	B	0.40782	0.34	T	0.44190	-0.9344	10	0.52906	T	0.07	-14.3847	2.9138	0.05745	0.1942:0.4607:0.1911:0.154	.	50	Q9NRH1	CG036_HUMAN	M	50	ENSP00000223273:I50M;ENSP00000400511:I50M;ENSP00000395777:I50M	ENSP00000223273:I50M	I	+	3	3	C7orf36	39576650	0.872000	0.30054	0.706000	0.30403	0.996000	0.88848	-0.017000	0.12590	-0.099000	0.12263	0.528000	0.53228	ATA	YAE1D1	-	pfam_Essential_protein_Yae1_N	ENSG00000241127		0.368	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAE1D1	HGNC	protein_coding	OTTHUMT00000250586.1	-	0	50	0	A	NM_020192		39610125	1	tier1	-	no_errors	ENST00000223273	ensembl	human	known	74_37	missense	20.83	57	15	SNP	0.395	G	G	39610125	A	G	39610125	3	3	21	1	0	0	0	0	1	0	0	0	2397	410	15	4	156	4	C7orf36	7	39610125	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	3162724	39610125	119528538	196	5583											
HECW1	23072	genome.wustl.edu	37	chr7	43477632	43477632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtccttgcccactgacGtgctggaaattgaggtgaag	8	12	13	8	1	0	3	0	3	0	0	1	4	1	4	2	2	2	1	2	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:43477632G>T	ENST00000395891.2	+	9	1437	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L	HECW1_ENST00000453890.1_Missense_Mutation_p.V278L|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	278	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCCACTGACGTGCTGGAAAT	0.493																																																	0													132	137	136					7																	43477632		2035	4218	6253	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.832G>T	7.37:g.43477632G>T	ENSP00000379228:p.Val278Leu		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.V278L	ENST00000395891.2	37	c.832	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	33	5.255707	0.95336	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.69306	-0.39;-0.39	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.108147	0.64402	D	0.000006	D	0.82756	0.5106	M	0.70595	2.14	0.80722	D	1	D;P;D	0.76494	0.992;0.953;0.999	P;P;D	0.87578	0.771;0.777;0.998	T	0.82244	-0.0553	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	278;310;278	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	L	278;278;277	ENSP00000379228:V278L;ENSP00000407774:V278L	ENSP00000265522:V277L	V	+	1	0	HECW1	43444157	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	8.062000	0.89475	2.941000	0.99782	0.655000	0.94253	GTG	HECW1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000002746		0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2		0	48	0	G	NM_015052		43477632	1			no_errors	ENST00000395891	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	43477632	G	T	43477632	3	4	21	1	0	0	0	0	1	0	0	0	7069	1145	40	2	858	2	HECW1	7	43477632	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3867507	43477632	115661031	197	5584											
DDX56	54606	genome.wustl.edu	37	chr7	44613437	44613437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagccctcgcgtgtacctGaaggagccggggatcgaggc	7	5	15	14	4	0	1	0	1	0	0	2	4	0	3	4	4	3	1	4	4	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:44613437G>C	ENST00000258772.5	-	1	164	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	DDX56_ENST00000485367.1_5'Flank|DDX56_ENST00000431640.1_Missense_Mutation_p.Q20E	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	20					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						GCGTGTACCTGAAGGAGCCGG	0.647																																																	0													35	37	36					7																	44613437		2203	4300	6503	SO:0001583	missense	0			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.58C>G	7.37:g.44613437G>C	ENSP00000258772:p.Gln20Glu		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q20E	ENST00000258772.5	37	c.58	CCDS5492.1	7	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999025	0.54147	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.39056	1.1;1.1	5.22	5.22	0.72569	RNA helicase, DEAD-box type, Q motif (1);	0.055176	0.64402	D	0.000001	T	0.35038	0.0918	L	0.44542	1.39	0.40824	D	0.983534	B;B	0.33964	0.434;0.155	B;B	0.27380	0.079;0.041	T	0.34725	-0.9817	10	0.66056	D	0.02	-28.6618	14.2753	0.66175	0.0:0.0:1.0:0.0	.	20;20	C9JV95;Q9NY93	.;DDX56_HUMAN	E	20	ENSP00000258772:Q20E;ENSP00000393488:Q20E	ENSP00000258772:Q20E	Q	-	1	0	DDX56	44579962	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	4.681000	0.61663	2.441000	0.82636	0.655000	0.94253	CAG	DDX56	-	superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000136271		0.647	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	HGNC	protein_coding	OTTHUMT00000251291.1	-	0	29	0	G	NM_019082		44613437	-1	tier1	-	no_errors	ENST00000258772	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	C	C	44613437	G	C	44613437	3	2	21	1	0	0	0	0	1	0	0	0	4383	1299	45	5	1641	5	DDX56	7	44613437	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1135805	44613437	114525226	198	5585											
TBRG4	9238	genome.wustl.edu	37	chr7	45139978	45139978	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgtccttgaggtaggcGcctttctgccattcagactt	6	15	9	11	1	3	2	1	1	2	1	4	2	4	2	3	2	1	1	3	2	1	6	rs370363199		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:45139978G>T	ENST00000258770.3	-	11	1963	c.1842C>A	c.(1840-1842)ggC>ggA	p.G614G	TBRG4_ENST00000494076.1_Silent_p.G614G|TBRG4_ENST00000361278.3_Silent_p.G504G|TBRG4_ENST00000395655.4_Silent_p.G504G	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	614	RAP. {ECO:0000255|PROSITE- ProRule:PRU00619}.				cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						TGAGGTAGGCGCCTTTCTGCC	0.587																																																	0													117	82	94					7																	45139978		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1842C>A	7.37:g.45139978G>T			A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.G614	ENST00000258770.3	37	c.1842	CCDS5501.1	7																																																																																			TBRG4	-	pfam_RAP,smart_RAP	ENSG00000136270		0.587	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	HGNC	protein_coding	OTTHUMT00000251351.1		0	54	0	G	NM_030900		45139978	-1			no_errors	ENST00000258770	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.005	T	T	45139978	G	T	45139978	2	4	21	1	0	0	0	0	0	0	0	1	15696	1074	38	2		2	TBRG4	7	45139978	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	526541	45139978	113998685	199	5586											
ABCA13	154664	genome.wustl.edu	37	chr7	48520703	48520703	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacacactgttgaatctctCaggcttcaatatggaggagt	11	11	9	10	0	3	1	2	1	1	0	4	3	3	3	1	3	0	2	1	3	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:48520703C>G	ENST00000435803.1	+	46	13070	c.13046C>G	c.(13045-13047)tCa>tGa	p.S4349*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.S79*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4349					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGAATCTCTCAGGCTTCAAT	0.408																																																	0													91	88	89					7																	48520703		1863	4121	5984	SO:0001587	stop_gained	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13046C>G	7.37:g.48520703C>G	ENSP00000411096:p.Ser4349*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S4349*	ENST00000435803.1	37	c.13046	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	54	22.228524	0.99946	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	.	.	.	5.35	5.35	0.76521	.	0.000000	0.40640	N	0.001057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1462	0.81575	0.0:1.0:0.0:0.0	.	.	.	.	X	4349;122;79	.	ENSP00000391042:S122X	S	+	2	0	ABCA13	48491249	0.789000	0.28775	0.399000	0.26333	0.418000	0.31294	3.978000	0.56881	2.667000	0.90743	0.585000	0.79938	TCA	ABCA13	-	NULL	ENSG00000179869		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	64	0	C	NM_152701		48520703	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	nonsense	26.32	70	25	SNP	0.701	G	G	48520703	C	G	48520703	4	3	21	1	0	0	0	0	0	1	0	0	31	838	29	5	13057	5	ABCA13	7	48520703	Nonsense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3380725	48520703	110617960	200	5587											
IKZF1	10320	genome.wustl.edu	37	chr7	50459504	50459504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagagatctctcgtgctgGacagactagcaagtaacgtc	12	8	11	10	2	1	3	0	0	1	3	4	5	1	4	0	1	3	3	0	1	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:50459504G>T	ENST00000331340.3	+	7	948	c.793G>T	c.(793-795)Gac>Tac	p.D265Y	IKZF1_ENST00000438033.1_Missense_Mutation_p.D178Y|IKZF1_ENST00000343574.5_Missense_Mutation_p.D178Y|IKZF1_ENST00000440768.2_Missense_Mutation_p.G222V|IKZF1_ENST00000359197.5_Missense_Mutation_p.D223Y|IKZF1_ENST00000439701.1_Missense_Mutation_p.D223Y|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000346667.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	265					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCTCGTGCTGGACAGACTAGC	0.403			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											79	78	79					7																	50459504		1890	4123	6013	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.793G>T	7.37:g.50459504G>T	ENSP00000331614:p.Asp265Tyr		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D265Y	ENST00000331340.3	37	c.793		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.282426|4.282426	0.80692|0.80692	.|.	.|.	ENSG00000185811|ENSG00000185811	ENST00000343574;ENST00000359197;ENST00000331340;ENST00000438033;ENST00000439701|ENST00000440768	T;T;T;T;T|T	0.08807|0.06068	3.05;3.11;3.14;3.05;3.11|3.35	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.22820|0.22820	0.0551|0.0551	.|.	.|.	.|.	0.53688|0.53688	D|D	0.999975|0.999975	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.994;0.996;0.987|.	T|T	0.00269|0.00269	-1.1861|-1.1861	9|6	0.62326|0.62326	D|D	0.03|0.03	-25.6181|-25.6181	18.8054|18.8054	0.92035|0.92035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	178;223;265|.	Q13422-2;Q13422-7;Q13422|.	.;.;IKZF1_HUMAN|.	Y|V	178;223;265;178;223|222	ENSP00000342750:D178Y;ENSP00000352123:D223Y;ENSP00000331614:D265Y;ENSP00000396554:D178Y;ENSP00000413025:D223Y|ENSP00000401507:G222V	ENSP00000331614:D265Y|ENSP00000401507:G222V	D|G	+|+	1|2	0|0	IKZF1|IKZF1	50426998|50426998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.062000|8.062000	0.89475|0.89475	2.417000|2.417000	0.82017|0.82017	0.563000|0.563000	0.77884|0.77884	GAC|GGA	IKZF1	-	NULL	ENSG00000185811		0.403	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	-	0	31	0	G	NM_006060		50459504	1	tier1	-	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	50459504	G	T	50459504	3	4	21	1	0	0	0	0	1	0	0	0	7641	1174	41	3	815	3	IKZF1	7	50459504	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1938801	50459504	108679159	201	5588											
ZNF107	51427	genome.wustl.edu	37	chr7	64167974	64167974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacccttactagacataAgaaaattcatactggagaga	17	9	6	9	0	2	3	2	0	0	3	2	5	2	4	1	1	3	0	1	1	7	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:64167974A>G	ENST00000395391.1	+	4	2667	c.1292A>G	c.(1291-1293)aAg>aGg	p.K431R	ZNF107_ENST00000344930.3_Missense_Mutation_p.K431R|ZNF107_ENST00000423627.1_Missense_Mutation_p.K431R			Q9UII5	ZN107_HUMAN	zinc finger protein 107	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACTAGACATAAGAAAATTCAT	0.343																																																	0													33	36	35					7																	64167974		2193	4296	6489	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1292A>G	7.37:g.64167974A>G	ENSP00000378789:p.Lys431Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K431R	ENST00000395391.1	37	c.1292	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	17.74	3.463672	0.63513	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.07444	3.19;3.19;3.19	1.27	-0.258	0.12975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06781	0.0173	N	0.10664	0.02	0.19945	N	0.999946	P	0.49358	0.923	P	0.55303	0.773	T	0.33266	-0.9875	8	.	.	.	.	4.1822	0.10381	0.7553:0.0:0.2447:0.0	.	431	Q9UII5	ZN107_HUMAN	R	431	ENSP00000343443:K431R;ENSP00000400037:K431R;ENSP00000378789:K431R	.	K	+	2	0	ZNF107	63805409	0.000000	0.05858	0.491000	0.27477	0.966000	0.64601	0.029000	0.13666	-0.227000	0.09884	0.260000	0.18958	AAG	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.343	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	-	0	29	0	A	NM_016220		64167974	1	tier1	-	no_errors	ENST00000344930	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.860	G	G	64167974	A	G	64167974	3	3	21	1	0	0	0	0	1	0	0	0	17763	72	3	4	1298	4	ZNF107	7	64167974	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	13708470	64167974	94970689	202	5589											
POLR2J	5439	genome.wustl.edu	37	chr7	102119272	102119272	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacttcttctcgccctcgaaGagcaagaacgactcgaaggc	11	8	9	13	4	2	2	0	0	2	2	5	5	2	2	1	1	3	1	1	1	5	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:102119272G>C	ENST00000292614.5	-	1	82	c.36C>G	c.(34-36)ctC>ctG	p.L12L	AC093668.3_ENST00000607525.1_RNA|POLR2J_ENST00000393794.3_Silent_p.L12L	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	12					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|LRR domain binding (GO:0030275)			pancreas(2)	2						CGCCCTCGAAGAGCAAGAACG	0.677											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	21	19					7																	102119272		1975	3952	5927	SO:0001819	synonymous_variant	0			X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"RNA polymerase subunits"	9197	protein-coding gene	gene with protein product		604150	"polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.36C>G	7.37:g.102119272G>C		1364	A5D6V8|O43375	Silent	SNP	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer	p.L12	ENST00000292614.5	37	c.36	CCDS5724.1	7																																																																																			POLR2J	-	superfamily_RBP11-like_dimer	ENSG00000005075		0.677	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2J	HGNC	protein_coding	OTTHUMT00000317913.1	-	0	61	0	G	NM_006234		102119272	-1	tier1	-	no_errors	ENST00000393794	ensembl	human	known	74_37	silent	25.40	47	16	SNP	1.000	C	C	102119272	G	C	102119272	2	2	21	1	0	0	0	0	0	0	0	1	12262	929	33	5		5	POLR2J	7	102119272	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	37951298	102119272	57019391	203	5590											
LAMB4	22798	genome.wustl.edu	37	chr7	107720173	107720173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtaacagggttcccaGgaactggctctcctaaaaca	12	9	8	12	0	1	0	0	0	1	0	4	1	3	1	3	3	3	3	3	3	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:107720173G>T	ENST00000388781.3	-	15	1843	c.1760C>A	c.(1759-1761)cCt>cAt	p.P587H	LAMB4_ENST00000388780.3_Missense_Mutation_p.P587H|LAMB4_ENST00000414450.2_Missense_Mutation_p.P587H|LAMB4_ENST00000205386.4_Missense_Mutation_p.P587H|LAMB4_ENST00000418464.1_Missense_Mutation_p.P587H	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	587	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGGGTTCCCAGGAACTGGCTC	0.507																																																	0													62	58	59					7																	107720173		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1760C>A	7.37:g.107720173G>T	ENSP00000373433:p.Pro587His		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.P587H	ENST00000388781.3	37	c.1760	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151319	0.78001	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.32023	1.47;1.47;1.49;1.47;1.52	5.31	5.31	0.75309	Laminin IV (1);	0.129573	0.35320	N	0.003286	T	0.37128	0.0992	L	0.41710	1.295	0.39811	D	0.972702	D	0.71674	0.998	P	0.49999	0.628	T	0.06679	-1.0813	10	0.39692	T	0.17	.	18.7665	0.91874	0.0:0.0:1.0:0.0	.	587	A4D0S4	LAMB4_HUMAN	H	587	ENSP00000205386:P587H;ENSP00000373433:P587H;ENSP00000373432:P587H;ENSP00000402353:P587H;ENSP00000402265:P587H	ENSP00000205386:P587H	P	-	2	0	LAMB4	107507409	1.000000	0.71417	0.959000	0.39883	0.905000	0.53344	3.222000	0.51223	2.764000	0.94973	0.655000	0.94253	CCT	LAMB4	-	pfscan_Laminin_IV	ENSG00000091128		0.507	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	49	0	G	XM_209857		107720173	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.999	T	T	107720173	G	T	107720173	3	4	21	1	0	0	0	0	1	0	0	0	8641	1000	35	3	3605	3	LAMB4	7	107720173	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5600901	107720173	51418490	204	5591											
MET	4233	genome.wustl.edu	37	chr7	116397741	116397741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atacggtcctatggctggtgGcactttacttactttaactg	8	15	9	9	1	0	0	0	0	0	0	1	0	1	0	1	4	4	2	1	4	5	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr7:116397741G>A	ENST00000318493.6	+	8	2202	c.2015G>A	c.(2014-2016)gGc>gAc	p.G672D	MET_ENST00000436117.2_Missense_Mutation_p.G672D|MET_ENST00000397752.3_Missense_Mutation_p.G672D			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGGCTGGTGGCACTTTACTT	0.338			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													73	73	73					7																	116397741		1856	4093	5949	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2015G>A	7.37:g.116397741G>A	ENSP00000317272:p.Gly672Asp		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.G672D	ENST00000318493.6	37	c.2015	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984679	0.74474	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	D;D;D	0.86366	-2.11;-2.11;-2.11	5.45	5.45	0.79879	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.300125	0.42172	D	0.000754	D	0.95847	0.8648	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.969;0.999;1.0;0.998;0.999;0.998;1.0	P;D;D;D;D;D;D	0.97110	0.709;0.988;0.999;0.995;0.99;0.921;1.0	D	0.96578	0.9428	10	0.72032	D	0.01	.	19.6495	0.95795	0.0:0.0:1.0:0.0	.	672;672;672;672;644;672;672	B5A929;E7EQ94;B5A930;B5A934;B5A936;P08581-2;P08581	.;.;.;.;.;.;MET_HUMAN	D	672	ENSP00000380860:G672D;ENSP00000317272:G672D;ENSP00000410980:G672D	ENSP00000317272:G672D	G	+	2	0	MET	116184977	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	6.821000	0.75272	2.717000	0.92951	0.585000	0.79938	GGC	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000105976		0.338	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0	61	0	G			116397741	1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	116397741	G	A	116397741	3	1	21	1	0	0	0	0	1	0	0	0	9523	1203	42	3	2041	3	MET	7	116397741	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8677568	116397741	42740922	205	5592											
C8orf79	57604	genome.wustl.edu	37	chr8	12879455	12879455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaggggagctctgcagtCtgctcaaggagaatgtgtca	11	8	15	7	0	4	2	2	0	2	2	4	5	4	3	0	3	3	3	0	3	3	0	rs371288288		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:12879455C>T	ENST00000524591.2	+	5	1756	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	423							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCTCTGCAGTCTGCTCAAGGA	0.453																																																	0													65	62	63					8																	12879455		1900	4122	6022	SO:0001819	synonymous_variant	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1267C>T	8.37:g.12879455C>T			Q96AW6	Silent	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.L423	ENST00000524591.2	37	c.1267	CCDS47808.1	8																																																																																			KIAA1456	-	NULL	ENSG00000250305		0.453	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1456	HGNC	protein_coding	OTTHUMT00000383262.2		0	16	0	C	NM_001099677		12879455	1			no_errors	ENST00000524591	ensembl	human	known	74_37	silent	42.86	8	6	SNP	0.732	T	T	12879455	C	T	12879455	2	4	21	1	0	0	0	0	0	0	0	1	2445	912	32	3		3	C8orf79	8	12879455	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09		12879455	133484567	206	5593											
MSR1	4481	genome.wustl.edu	37	chr8	16021760	16021760	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctctaatttactgatttCctgtaaaacataagtgagca	13	14	5	9	0	1	2	0	2	1	0	3	2	3	2	2	0	3	2	2	0	5	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:16021760C>T	ENST00000262101.5	-	5	752	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	MSR1_ENST00000536385.1_5'UTR|MSR1_ENST00000381998.4_Splice_Site_p.E211K|MSR1_ENST00000355282.2_Splice_Site_p.E211K|MSR1_ENST00000445506.2_Splice_Site_p.E229K|MSR1_ENST00000350896.3_Splice_Site_p.E211K			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	211					cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTACTGATTTCCTGTAAAACA	0.328																																																	0													99	87	91					8																	16021760		2202	4299	6501	SO:0001630	splice_region_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.631-1G>A	8.37:g.16021760C>T			D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.E211K	ENST00000262101.5	37	c.631	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990763	0.54041	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	4.56	4.56	0.56223	Macrophage scavenger receptor (1);	0.312551	0.27558	N	0.018821	T	0.74336	0.3703	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.43094	0.799;0.787;0.634;0.682	B;B;B;B	0.39379	0.188;0.298;0.234;0.156	T	0.72852	-0.4167	10	0.22706	T	0.39	.	15.6466	0.77061	0.0:1.0:0.0:0.0	.	229;211;211;211	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	K	211;211;229;211;1;211	ENSP00000262100:E211K;ENSP00000262101:E211K;ENSP00000405453:E229K;ENSP00000347430:E211K;ENSP00000430536:E1K;ENSP00000371428:E211K	ENSP00000262101:E211K	E	-	1	0	MSR1	16066131	0.995000	0.38212	0.757000	0.31301	0.648000	0.38561	1.715000	0.37971	2.472000	0.83506	0.655000	0.94253	GAA	MSR1	-	superfamily_STAT_TF_coiled-coil,prints_Macro_scav_rcpt	ENSG00000038945		0.328	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	-	0	38	0	C		Missense_Mutation	16021760	-1	tier1	-	no_errors	ENST00000262101	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.999	T	T	16021760	C	T	16021760	5	4	21	1	0	0	0	0	0	0	1	0	9924	869	30	3	796	3	MSR1	8	16021760	Splice_Site	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3142305	16021760	130342262	207	5594											
GPR124	25960	genome.wustl.edu	37	chr8	37698775	37698775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggaggcaggggaggagctGaggggttccaccaggctcag	8	5	19	9	0	1	1	1	1	0	0	2	4	2	4	2	8	1	4	2	8	0	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:37698775G>A	ENST00000412232.2	+	19	2932	c.2919G>A	c.(2917-2919)ctG>ctA	p.L973L	GPR124_ENST00000315215.7_Silent_p.L756L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	973					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGAGGAGCTGAGGGGTTCCA	0.692																																																	0													27	32	30					8																	37698775		2202	4300	6502	SO:0001819	synonymous_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2919G>A	8.37:g.37698775G>A			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.L973	ENST00000412232.2	37	c.2919	CCDS6097.2	8																																																																																			GPR124	-	NULL	ENSG00000020181		0.692	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	-	0	51	0	G			37698775	1	tier1	-	no_errors	ENST00000412232	ensembl	human	known	74_37	silent	9.78	83	9	SNP	0.000	A	A	37698775	G	A	37698775	2	1	21	1	0	0	0	0	0	0	0	1	6664	1277	45	3		3	GPR124	8	37698775	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	21677015	37698775	108665247	208	5595											
ADAM2	2515	genome.wustl.edu	37	chr8	39607208	39607208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctatcattgcatttgtcaGtagtacaatcataacccaag	13	13	5	10	0	4	0	3	0	1	0	4	0	4	0	1	0	3	3	1	0	6	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:39607208G>T	ENST00000265708.4	-	17	1956	c.1853C>A	c.(1852-1854)aCt>aAt	p.T618N	ADAM2_ENST00000347580.4_Missense_Mutation_p.T599N|ADAM2_ENST00000521880.1_Missense_Mutation_p.T555N|ADAM2_ENST00000379853.2_Missense_Mutation_p.T462N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	618	EGF-like.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCATTTGTCAGTAGTACAATC	0.358																																																	0													156	143	147					8																	39607208		2203	4300	6503	SO:0001583	missense	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1853C>A	8.37:g.39607208G>T	ENSP00000265708:p.Thr618Asn		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T618N	ENST00000265708.4	37	c.1853	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.568870	0.00895	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	4.21	-2.65	0.06095	.	.	.	.	.	T	0.75766	0.3894	N	0.16368	0.405	0.09310	N	1	B;B;B;B	0.15473	0.01;0.005;0.013;0.007	B;B;B;B	0.23018	0.043;0.011;0.026;0.011	T	0.59936	-0.7360	9	0.25751	T	0.34	.	4.8921	0.13731	0.1831:0.0:0.2462:0.5707	.	555;462;599;618	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	N	599;462;618;555	ENSP00000343854:T599N;ENSP00000369182:T462N;ENSP00000265708:T618N;ENSP00000429352:T555N	ENSP00000265708:T618N	T	-	2	0	ADAM2	39726365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.069000	0.11542	-0.452000	0.07087	-0.953000	0.02652	ACT	ADAM2	-	NULL	ENSG00000104755		0.358	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1		0	22	0	G	NM_001464		39607208	-1			no_errors	ENST00000265708	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T	T	39607208	G	T	39607208	3	4	21	1	0	0	0	0	1	0	0	0	241	1029	36	3	370	3	ADAM2	8	39607208	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1908433	39607208	106756814	209	5596											
RGS20	8601	genome.wustl.edu	37	chr8	54764502	54764502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaagagtgcctccagaaaCatttctccaggccgtctata	12	9	7	13	1	2	2	0	0	2	2	4	2	3	2	5	1	2	0	5	1	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:54764502C>T	ENST00000297313.3	+	1	135	c.43C>T	c.(43-45)Cat>Tat	p.H15Y	RGS20_ENST00000344277.6_Missense_Mutation_p.H15Y	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	15					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CCTCCAGAAACATTTCTCCAG	0.453																																																	0													120	124	123					8																	54764502		2203	4300	6503	SO:0001583	missense	0			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.43C>T	8.37:g.54764502C>T	ENSP00000297313:p.His15Tyr		Q96BG9	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.H15Y	ENST00000297313.3	37	c.43	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	C	8.515	0.867419	0.17250	.	.	ENSG00000147509	ENST00000297313;ENST00000344277	T;T	0.55052	0.86;0.54	4.84	2.11	0.27256	.	.	.	.	.	T	0.44644	0.1303	L	0.53249	1.67	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.40365	-0.9567	9	0.52906	T	0.07	.	6.3966	0.21616	0.0:0.7054:0.0:0.2946	.	15;15	O76081-2;O76081	.;RGS20_HUMAN	Y	15	ENSP00000297313:H15Y;ENSP00000344630:H15Y	ENSP00000297313:H15Y	H	+	1	0	RGS20	54927055	0.000000	0.05858	0.044000	0.18714	0.530000	0.34684	-0.368000	0.07543	0.776000	0.33473	-0.126000	0.14955	CAT	RGS20	-	NULL	ENSG00000147509		0.453	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	HGNC	protein_coding	OTTHUMT00000380058.1	-	0	31	0	C			54764502	1	tier1	-	no_errors	ENST00000297313	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.036	T	T	54764502	C	T	54764502	3	4	21	1	0	0	0	0	1	0	0	0	13348	478	17	3	45	3	RGS20	8	54764502	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	15157294	54764502	91599520	210	5597											
RP1	6101	genome.wustl.edu	37	chr8	55541969	55541969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcgcaatgaaacctgtGccaaggaaagaatagcaaat	17	8	9	7	1	0	2	0	1	0	1	1	3	0	3	2	1	3	3	2	1	7	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:55541969G>T	ENST00000220676.1	+	4	5675	c.5527G>T	c.(5527-5529)Gcc>Tcc	p.A1843S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1843					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGAAACCTGTGCCAAGGAAAG	0.408																																					Colon(91;1014 1389 7634 14542 40420)												0													96	91	93					8																	55541969		2203	4300	6503	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5527G>T	8.37:g.55541969G>T	ENSP00000220676:p.Ala1843Ser			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A1843S	ENST00000220676.1	37	c.5527	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	0.624	-0.820018	0.02755	.	.	ENSG00000104237	ENST00000220676	T	0.44482	0.92	6.03	-1.24	0.09435	.	0.907903	0.09170	N	0.839003	T	0.27278	0.0669	L	0.39898	1.24	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24835	-1.0149	10	0.30078	T	0.28	.	2.7467	0.05268	0.1493:0.3697:0.2932:0.1879	.	1843	P56715	RP1_HUMAN	S	1843	ENSP00000220676:A1843S	ENSP00000220676:A1843S	A	+	1	0	RP1	55704522	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	0.122000	0.15687	0.068000	0.16574	0.655000	0.94253	GCC	RP1	-	NULL	ENSG00000104237		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	34	0	G	NM_006269		55541969	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.000	T	T	55541969	G	T	55541969	3	4	21	1	0	0	0	0	1	0	0	0	13577	1319	46	3	5537	3	RP1	8	55541969	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	777467	55541969	90822053	211	5598											
PDE7A	5150	genome.wustl.edu	37	chr8	66753636	66753636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccggggattggggcagccGaagagagcggagctggagct	8	5	20	8	3	0	1	0	0	0	1	0	6	0	4	2	6	5	3	2	6	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:66753636G>A	ENST00000401827.3	-	1	551	c.108C>T	c.(106-108)ttC>ttT	p.F36F	CTD-2532N20.1_ENST00000607622.1_lincRNA|PDE7A_ENST00000396642.3_Silent_p.F36F	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	36					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TGGGGCAGCCGAAGAGAGCGG	0.652																																																	0													14	20	18					8																	66753636		1927	4138	6065	SO:0001819	synonymous_variant	0			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.108C>T	8.37:g.66753636G>A			A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.F36	ENST00000401827.3	37	c.108	CCDS56538.1	8																																																																																			PDE7A	-	NULL	ENSG00000205268		0.652	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7A	HGNC	protein_coding	OTTHUMT00000378905.1	-	0	67	0	G			66753636	-1	tier1	-	no_errors	ENST00000401827	ensembl	human	known	74_37	silent	16.28	36	7	SNP	1.000	A	A	66753636	G	A	66753636	2	1	21	1	0	0	0	0	0	0	0	1	11690	1049	37	1		1	PDE7A	8	66753636	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	11211667	66753636	79610386	212	5599											
MYBL1	4603	genome.wustl.edu	37	chr8	67488558	67488558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggatttgataggagaaGcagcagcatcagaaatatca	15	8	13	5	0	2	3	2	1	0	2	2	5	2	4	0	3	3	3	0	3	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:67488558G>T	ENST00000522677.3	-	10	1564	c.1154C>A	c.(1153-1155)gCt>gAt	p.A385D	MYBL1_ENST00000524176.2_Missense_Mutation_p.A385D|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	385	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GATAGGAGAAGCAGCAGCATC	0.373																																																	0													146	138	140					8																	67488558		1876	4127	6003	SO:0001583	missense	0			X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1154C>A	8.37:g.67488558G>T	ENSP00000429633:p.Ala385Asp		E7EW29|Q495F9	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A385D	ENST00000522677.3	37	c.1154	CCDS47867.1	8	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684822	0.29872	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.17370	2.76;2.28	5.5	5.5	0.81552	.	0.217837	0.48286	D	0.000181	T	0.18215	0.0437	L	0.53249	1.67	0.49051	D	0.999746	B;B;B	0.34103	0.106;0.437;0.134	B;B;B	0.35607	0.044;0.206;0.043	T	0.03193	-1.1062	10	0.12103	T	0.63	-9.8974	14.5971	0.68415	0.0718:0.0:0.9282:0.0	.	385;384;385	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	D	385	ENSP00000429633:A385D;ENSP00000428011:A385D	ENSP00000429633:A385D	A	-	2	0	MYBL1	67651112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.030000	0.57260	2.600000	0.87896	0.591000	0.81541	GCT	MYBL1	-	NULL	ENSG00000185697		0.373	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL1	HGNC	protein_coding	OTTHUMT00000379221.3	-	0	75	0	G	XM_034274		67488558	-1	tier1	-	no_errors	ENST00000522677	ensembl	human	known	74_37	missense	5.05	94	5	SNP	1.000	T	T	67488558	G	T	67488558	3	4	21	1	0	0	0	0	1	0	0	0	10047	971	34	3	1132	3	MYBL1	8	67488558	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	734922	67488558	78875464	213	5600											
PRDM14	63978	genome.wustl.edu	37	chr8	70981438	70981438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctgaaatcgcatggtGcaggctggctgggtgctcca	7	8	16	10	1	0	1	0	1	0	0	2	2	1	1	2	5	2	5	2	5	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:70981438G>T	ENST00000276594.2	-	2	859	c.658C>A	c.(658-660)Cac>Aac	p.H220N		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	220					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATCGCATGGTGCAGGCTGGCT	0.607																																					NSCLC(129;99 1813 5906 40656 46114)												0													76	81	79					8																	70981438		2203	4300	6503	SO:0001583	missense	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.658C>A	8.37:g.70981438G>T	ENSP00000276594:p.His220Asn		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.H220N	ENST00000276594.2	37	c.658	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681697	0.68042	.	.	ENSG00000147596	ENST00000276594	T	0.11385	2.78	5.2	4.3	0.51218	.	0.844365	0.10456	N	0.672537	T	0.15089	0.0364	L	0.56769	1.78	0.22266	N	0.999247	B	0.18166	0.026	B	0.18561	0.022	T	0.14783	-1.0460	10	0.40728	T	0.16	-11.5174	13.8027	0.63212	0.0:0.0:0.8456:0.1544	.	220	Q9GZV8	PRD14_HUMAN	N	220	ENSP00000276594:H220N	ENSP00000276594:H220N	H	-	1	0	PRDM14	71143992	0.453000	0.25721	0.052000	0.19188	0.574000	0.36063	2.157000	0.42320	1.368000	0.46115	0.655000	0.94253	CAC	PRDM14	-	NULL	ENSG00000147596		0.607	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	-	0	56	0	G			70981438	-1	tier1	-	no_errors	ENST00000276594	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.677	T	T	70981438	G	T	70981438	3	4	21	1	0	0	0	0	1	0	0	0	12497	1319	46	3	1085	3	PRDM14	8	70981438	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3492880	70981438	75382584	214	5601											
CA1	759	genome.wustl.edu	37	chr8	86240905	86240905	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggctgcggaattgtgccaGctagaaggataaaatatttt	14	11	11	5	1	0	1	0	0	0	1	0	3	0	3	1	3	3	2	1	3	7	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:86240905G>T	ENST00000523953.1	-	9	1716	c.670C>A	c.(670-672)Ctg>Atg	p.L224M	CA1_ENST00000542576.1_Splice_Site_p.L224M|CA1_ENST00000523022.1_Splice_Site_p.L224M|CA1_ENST00000432364.2_Splice_Site_p.L224M|CA1_ENST00000522389.1_Splice_Site_p.L90M|CA1_ENST00000256119.5_Splice_Site_p.L224M|CA1_ENST00000431316.1_Splice_Site_p.L224M			P00915	CAH1_HUMAN	carbonic anhydrase I	224					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	AATTGTGCCAGCTAGAAGGat	0.378																																																	0													79	76	77					8																	86240905		2203	4300	6503	SO:0001630	splice_region_variant	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.670-1C>A	8.37:g.86240905G>T				Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L224M	ENST00000523953.1	37	c.670	CCDS6237.1	8	.	.	.	.	.	.	.	.	.	.	G	7.680	0.688849	0.14973	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000522389;ENST00000524324;ENST00000517618;ENST00000519991	T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.97	4.09	0.47781	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.249082	0.38548	N	0.001654	T	0.75398	0.3844	M	0.66939	2.045	0.43381	D	0.995482	D	0.89917	1.0	D	0.83275	0.996	T	0.75587	-0.3266	10	0.05620	T	0.96	-1.9923	6.3559	0.21400	0.0947:0.0:0.7241:0.1812	.	224	P00915	CAH1_HUMAN	M	224;224;224;224;224;224;90;158;224;111	ENSP00000430656:L224M;ENSP00000256119:L224M;ENSP00000392338:L224M;ENSP00000443517:L224M;ENSP00000401551:L224M;ENSP00000429798:L224M;ENSP00000427773:L90M;ENSP00000428923:L158M;ENSP00000430861:L224M;ENSP00000430543:L111M	ENSP00000256119:L224M	L	-	1	2	CA1	86428157	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	3.734000	0.55037	1.073000	0.40885	0.650000	0.86243	CTG	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.378	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1		0	25	0	G	NM_001738	Missense_Mutation	86240905	-1			no_errors	ENST00000256119	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	86240905	G	T	86240905	5	4	21	1	0	0	0	0	0	0	1	0	2517	985	34	3	119	3	CA1	8	86240905	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	15259467	86240905	60123117	215	5602											
CNGB3	54714	genome.wustl.edu	37	chr8	87638285	87638285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactggaccgtagttggtaGggtcttaagcaaatcagact	12	11	11	7	1	2	1	1	0	1	1	2	2	2	2	1	3	2	4	1	3	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:87638285G>T	ENST00000320005.5	-	13	1551	c.1504C>A	c.(1504-1506)Cta>Ata	p.L502I		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	502					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTAGTTGGTAGGGTCTTAAGC	0.378																																																	0													116	105	109					8																	87638285		2203	4300	6503	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1504C>A	8.37:g.87638285G>T	ENSP00000316605:p.Leu502Ile		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L502I	ENST00000320005.5	37	c.1504	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705738	0.30232	.	.	ENSG00000170289	ENST00000320005	D	0.97906	-4.6	5.37	3.57	0.40892	Cyclic nucleotide-binding-like (1);	0.233737	0.33670	N	0.004665	D	0.97804	0.9279	M	0.80616	2.505	0.41751	D	0.989663	P;P	0.48694	0.914;0.861	P;P	0.57846	0.828;0.677	D	0.96881	0.9646	10	0.72032	D	0.01	.	5.463	0.16627	0.1651:0.0:0.5711:0.2638	.	502;502	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	I	502	ENSP00000316605:L502I	ENSP00000316605:L502I	L	-	1	2	CNGB3	87707401	1.000000	0.71417	0.343000	0.25615	0.040000	0.13550	3.158000	0.50723	0.650000	0.30769	0.650000	0.86243	CTA	CNGB3	-	superfamily_cNMP-bd-like	ENSG00000170289		0.378	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	50	0	G	NM_019098		87638285	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.886	T	T	87638285	G	T	87638285	3	4	21	1	0	0	0	0	1	0	0	0	3608	991	35	3	949	3	CNGB3	8	87638285	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1397380	87638285	58725737	216	5603											
FAM92A1	137392	genome.wustl.edu	37	chr8	94738686	94738686	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatattgtaagagcaaattCaaagtcacctcttcagagat	16	11	7	7	0	4	3	3	0	1	3	4	4	4	3	1	0	1	2	1	0	4	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:94738686C>G	ENST00000518322.1	+	8	863	c.722C>G	c.(721-723)tCa>tGa	p.S241*	FAM92A1_ENST00000519679.1_Nonsense_Mutation_p.S86*|FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000423990.2_Nonsense_Mutation_p.S203*|FAM92A1_ENST00000517718.1_Nonsense_Mutation_p.S86*	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	241										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGAGCAAATTCAAAGTCACCT	0.373																																																	0													84	78	79					8																	94738686		1877	4111	5988	SO:0001587	stop_gained	0				CCDS47892.1, CCDS64933.1	8q22.1	2005-09-22			ENSG00000188343	ENSG00000188343			30452	protein-coding gene	gene with protein product						12477932	Standard	XM_005250783		Approved	FLJ38979	uc022ayd.1	A1XBS5	OTTHUMG00000164238	ENST00000518322.1:c.722C>G	8.37:g.94738686C>G	ENSP00000429367:p.Ser241*		A1XBS4|Q32ND3|Q6AHW7|Q8N8R1|Q96L09	Nonsense_Mutation	SNP	pfam_FAM92	p.S241*	ENST00000518322.1	37	c.722	CCDS47892.1	8	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723947	0.89298	.	.	ENSG00000188343	ENST00000518322;ENST00000423990;ENST00000436526;ENST00000341186;ENST00000517718;ENST00000521641;ENST00000519679	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.5878	19.7622	0.96325	0.0:1.0:0.0:0.0	.	.	.	.	X	241;203;203;241;86;86;86	.	ENSP00000341363:S241X	S	+	2	0	FAM92A1	94807862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.604000	0.61112	2.732000	0.93576	0.650000	0.86243	TCA	FAM92A1	-	NULL	ENSG00000188343		0.373	FAM92A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM92A1	HGNC	protein_coding	OTTHUMT00000377890.4	-	0	63	0	C	NM_145269		94738686	1	tier1	-	no_errors	ENST00000518322	ensembl	human	known	74_37	nonsense	30.36	39	17	SNP	1.000	G	G	94738686	C	G	94738686	4	3	21	1	0	0	0	0	0	1	0	0	5674	838	29	5	748	5	FAM92A1	8	94738686	Nonsense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	7100401	94738686	51625336	217	5604											
PABPC1	26986	genome.wustl.edu	37	chr8	101719226	101719226	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgggcatattttggaatgCtgcattttaaagatgtgaat	12	14	10	5	1	0	2	0	1	0	1	0	3	0	3	1	2	2	3	1	2	5	5	rs112580522		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:101719226C>G	ENST00000318607.5	-	10	2465		c.e10-1		PABPC1_ENST00000519004.1_Splice_Site|PABPC1_ENST00000522387.1_Splice_Site|PABPC1_ENST00000519596.1_Intron|AP001205.1_ENST00000579868.1_RNA	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)	p.?(1)		breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTGGAATGCTGCATTTTAA	0.413																																																	1	Unknown(1)	lung(1)											39	41	40					8																	101719226		2203	4300	6503	SO:0001630	splice_region_variant	0			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1337-1G>C	8.37:g.101719226C>G			Q15097|Q93004	Splice_Site	SNP	-	e10-1	ENST00000318607.5	37	c.1337-1	CCDS6289.1	8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096182	0.76870	.	.	ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000517403	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5891	0.99427	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PABPC1	101788402	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	5.388000	0.66249	2.876000	0.98609	0.650000	0.86243	.	PABPC1	-	-	ENSG00000070756		0.413	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1		0	10	0	C	NM_002568	Intron	101719226	-1			no_errors	ENST00000318607	ensembl	human	known	74_37	splice_site	11.54	22	3	SNP	1.000	G	G	101719226	C	G	101719226	5	3	21	1	0	0	0	0	0	0	1	0	11402	811	28	5	594	5	PABPC1	8	101719226	Splice_Site	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	6980540	101719226	44644796	218	5605											
FZD6	8323	genome.wustl.edu	37	chr8	104337100	104337100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattggatttttgctaggcGatagcacagcctgcaataag	11	12	10	8	1	1	0	1	0	0	0	1	2	1	1	1	2	4	3	1	2	4	6	rs201820118		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:104337100G>T	ENST00000358755.4	+	4	1083	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	FZD6_ENST00000522566.1_Missense_Mutation_p.D256Y|FZD6_ENST00000523739.1_Missense_Mutation_p.D224Y|FZD6_ENST00000540287.1_Intron	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	256					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TTTGCTAGGCGATAGCACAGC	0.398																																																	0													123	106	112					8																	104337100		2203	4300	6503	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.766G>T	8.37:g.104337100G>T	ENSP00000351605:p.Asp256Tyr		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.D256Y	ENST00000358755.4	37	c.766	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454041	0.43634	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	D;D;D	0.82984	-1.67;-1.67;-1.67	5.5	2.9	0.33743	GPCR, family 2-like (1);	0.196856	0.52532	D	0.000072	D	0.89619	0.6767	M	0.87971	2.92	0.80722	D	1	P;P;P	0.49253	0.921;0.902;0.921	P;P;P	0.59948	0.866;0.759;0.866	D	0.88389	0.3007	10	0.87932	D	0	.	9.0984	0.36653	0.8342:0.0:0.1658:0.0	.	201;256;256	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	Y	256;256;224;201	ENSP00000429055:D256Y;ENSP00000351605:D256Y;ENSP00000429528:D224Y	ENSP00000351605:D256Y	D	+	1	0	FZD6	104406276	0.969000	0.33509	0.986000	0.45419	0.776000	0.43924	2.176000	0.42500	0.300000	0.22699	-0.218000	0.12543	GAT	FZD6	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000164930		0.398	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1		0	44	0	G	NM_003506		104337100	1			no_errors	ENST00000358755	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.987	T	T	104337100	G	T	104337100	3	4	21	1	0	0	0	0	1	0	0	0	6158	1058	37	2	776	2	FZD6	8	104337100	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2617874	104337100	42026922	219	5606											
RIMS2	9699	genome.wustl.edu	37	chr8	105001620	105001620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggacagacatcgtgtcatGgatgaccattattctccaga	12	11	9	9	1	2	3	1	1	1	2	4	5	2	5	2	2	0	0	2	2	1	2	rs199654709		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:105001620G>A	ENST00000436393.2	+	15	2590	c.2349G>A	c.(2347-2349)atG>atA	p.M783I	RIMS2_ENST00000262231.10_Missense_Mutation_p.M844I|RIMS2_ENST00000406091.3_Missense_Mutation_p.M1005I|RIMS2_ENST00000507740.1_Missense_Mutation_p.M797I			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1067					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATCGTGTCATGGATGACCATT	0.393										HNSCC(12;0.0054)																																							0								G	ILE/MET,ILE/MET	0,3714		0,0,1857	111	107	108		3015,2391	2.7	1	8		108	6,8172		0,6,4083	yes	missense,missense	RIMS2	NM_001100117.2,NM_014677.4	10,10	0,6,5940	AA,AG,GG		0.0734,0.0,0.0505	benign,benign	1005/1350,797/1164	105001620	6,11886	1857	4089	5946	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2349G>A	8.37:g.105001620G>A	ENSP00000390665:p.Met783Ile		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.M1005I	ENST00000436393.2	37	c.3015		8	.	.	.	.	.	.	.	.	.	.	G	9.712	1.157397	0.21454	0.0	7.34E-4	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.17213	2.29;2.71;2.38;2.47;2.4;2.74	5.54	2.67	0.31697	.	.	.	.	.	T	0.11665	0.0284	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.0;0.0	T	0.11842	-1.0571	9	0.24483	T	0.36	.	4.9563	0.14041	0.2922:0.0:0.5688:0.1389	.	1067;783;844;797;1005	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	I	1005;1020;1005;1067;844;797;797;783	ENSP00000427018:M1005I;ENSP00000384892:M1005I;ENSP00000262231:M844I;ENSP00000423559:M797I;ENSP00000386228:M797I;ENSP00000390665:M783I	ENSP00000262231:M844I	M	+	3	0	RIMS2	105070796	0.995000	0.38212	1.000000	0.80357	0.975000	0.68041	0.937000	0.28951	0.715000	0.32103	-0.350000	0.07774	ATG	RIMS2	-	NULL	ENSG00000176406		0.393	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0	48	0	G	NM_001100117		105001620	1			no_errors	ENST00000406091	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.998	A	A	105001620	G	A	105001620	3	1	21	1	0	0	0	0	1	0	0	0	13413	1348	47	3	3207	3	RIMS2	8	105001620	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	664520	105001620	41362402	220	5607											
DPYS	1807	genome.wustl.edu	37	chr8	105456626	105456626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggcacagctcgtggccctCagggcctgttatccccagag	6	7	13	15	2	1	1	1	0	0	1	3	1	2	1	4	3	1	3	4	3	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:105456626C>T	ENST00000351513.2	-	4	775	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	215					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCGTGGCCCTCAGGGCCTGTT	0.522																																																	0													60	57	58					8																	105456626		2203	4300	6503	SO:0001583	missense	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.643G>A	8.37:g.105456626C>T	ENSP00000276651:p.Glu215Lys			Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.E215K	ENST00000351513.2	37	c.643	CCDS6302.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.932012	0.97116	.	.	ENSG00000147647	ENST00000351513	D	0.90676	-2.71	5.67	5.67	0.87782	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.94525	0.8237	M	0.63169	1.94	0.80722	D	1	D	0.64830	0.994	D	0.66602	0.945	D	0.94611	0.7804	10	0.87932	D	0	-39.4355	19.7714	0.96367	0.0:1.0:0.0:0.0	.	215	Q14117	DPYS_HUMAN	K	215	ENSP00000276651:E215K	ENSP00000276651:E215K	E	-	1	0	DPYS	105525802	1.000000	0.71417	0.961000	0.40146	0.979000	0.70002	7.337000	0.79256	2.666000	0.90696	0.655000	0.94253	GAG	DPYS	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.522	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	-	0	42	0	C	NM_001385		105456626	-1	tier1	-	no_errors	ENST00000351513	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	T	T	105456626	C	T	105456626	3	4	21	1	0	0	0	0	1	0	0	0	4760	835	29	3	940	3	DPYS	8	105456626	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	455006	105456626	40907396	221	5608											
CSMD3	114788	genome.wustl.edu	37	chr8	113256737	113256737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaatcagtgtatacccatGagatggaaggtccatcccta	14	10	8	9	0	1	1	1	1	0	1	3	3	3	2	3	2	1	1	3	2	6	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:113256737G>A	ENST00000297405.5	-	65	10532	c.10288C>T	c.(10288-10290)Cat>Tat	p.H3430Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H3390Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H3261Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3360Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3430	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTATACCCATGAGATGGAAGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													131	115	120					8																	113256737		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10288C>T	8.37:g.113256737G>A	ENSP00000297405:p.His3430Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3430Y	ENST00000297405.5	37	c.10288	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131245	0.21041	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.382887	0.25055	N	0.033489	T	0.24470	0.0593	N	0.00116	-2.08	0.30743	N	0.745955	B;B;B	0.15473	0.0;0.0;0.013	B;B;B	0.22386	0.001;0.0;0.039	T	0.15694	-1.0428	10	0.02654	T	1	.	19.3052	0.94158	0.0:0.0:1.0:0.0	.	3261;3430;3390	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3390;3430;2700;3261;3360	ENSP00000345799:H3390Y;ENSP00000297405:H3430Y;ENSP00000341558:H2700Y;ENSP00000412263:H3261Y;ENSP00000343124:H3360Y	ENSP00000297405:H3430Y	H	-	1	0	CSMD3	113325913	1.000000	0.71417	0.996000	0.52242	0.143000	0.21401	5.874000	0.69652	2.793000	0.96121	0.591000	0.81541	CAT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	45	0	G	NM_052900		113256737	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	24.00	38	12	SNP	0.997	A	A	113256737	G	A	113256737	3	1	21	1	0	0	0	0	1	0	0	0	3955	1290	45	3	863	3	CSMD3	8	113256737	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7800111	113256737	33107285	222	5609											
CSMD3	114788	genome.wustl.edu	37	chr8	113504786	113504786	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatacaggtgagtgttGaataaccttgaagaacataa	16	10	9	6	0	0	5	0	4	0	1	0	5	0	5	2	1	3	1	2	1	6	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:113504786G>T	ENST00000297405.5	-	31	5454	c.5210C>A	c.(5209-5211)tCa>tAa	p.S1737*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S1697*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S1633*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S1737*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1737	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1697L(1)|p.S1737L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGAGTGTTGAATAACCTTG	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)											173	151	158					8																	113504786		2203	4300	6503	SO:0001587	stop_gained	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5210C>A	8.37:g.113504786G>T	ENSP00000297405:p.Ser1737*		Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S1737*	ENST00000297405.5	37	c.5210	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	47	13.181419	0.99725	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.9	4.9	0.64082	.	0.178557	0.37304	N	0.002151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0045	0.64453	0.0755:0.0:0.9245:0.0	.	.	.	.	X	1697;1737;1077;1633;1737	.	ENSP00000297405:S1737X	S	-	2	0	CSMD3	113573962	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.427000	0.97472	2.704000	0.92352	0.585000	0.79938	TCA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.398	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	33	0	G	NM_052900		113504786	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	113504786	G	T	113504786	4	4	21	1	0	0	0	0	0	1	0	0	3955	1294	45	3	6077	3	CSMD3	8	113504786	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	248049	113504786	32859236	223	5610											
C8orf76	84933	genome.wustl.edu	37	chr8	124250109	124250109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccgagcctgaccttcctGgacatcccttttcatggcaa	9	10	7	15	1	1	1	1	1	0	0	3	3	3	2	5	2	1	1	5	2	1	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:124250109G>T	ENST00000276704.4	-	3	337	c.286C>A	c.(286-288)Cag>Aag	p.Q96K	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q64K	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	96										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGACCTTCCTGGACATCCCTT	0.418																																																	0													76	69	71					8																	124250109		2203	4300	6503	SO:0001583	missense	0			AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.286C>A	8.37:g.124250109G>T	ENSP00000276704:p.Gln96Lys		Q53HC1	Missense_Mutation	SNP	NULL	p.Q96K	ENST00000276704.4	37	c.286	CCDS6341.1	8	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448648	0.43531	.	.	ENSG00000189376	ENST00000276704;ENST00000357082	T;T	0.76316	-1.01;-1.01	5.86	4.99	0.66335	Tetratricopeptide-like helical (1);	0.234727	0.45126	D	0.000394	T	0.77987	0.4213	M	0.71581	2.175	0.35225	D	0.776386	P;P	0.48294	0.908;0.908	P;P	0.45753	0.492;0.492	T	0.82325	-0.0513	10	0.30854	T	0.27	-12.6664	11.9317	0.52849	0.1392:0.0:0.8608:0.0	.	64;96	Q96EF9;Q96K31	.;CH076_HUMAN	K	96;64	ENSP00000276704:Q96K;ENSP00000349593:Q64K	ENSP00000276704:Q96K	Q	-	1	0	C8orf76	124319290	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.438000	0.44837	1.479000	0.48272	0.655000	0.94253	CAG	C8orf76	-	NULL	ENSG00000189376		0.418	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf76	HGNC	protein_coding	OTTHUMT00000381748.1	-	0	69	0	G	NM_032847		124250109	-1	tier1	-	no_errors	ENST00000276704	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	124250109	G	T	124250109	3	4	21	1	0	0	0	0	1	0	0	0	2444	1357	47	3	872	3	C8orf76	8	124250109	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10745323	124250109	22113913	224	5611											
GSDMC	56169	genome.wustl.edu	37	chr8	130789633	130789633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggactgaagaacttggCtccaggatgtcattgaggga	11	9	13	8	0	1	3	1	2	0	1	2	6	2	6	2	4	1	1	2	4	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:130789633C>T	ENST00000276708.4	-	2	1082	c.201G>A	c.(199-201)gaG>gaA	p.E67E		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	67						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AAGAACTTGGCTCCAGGATGT	0.433																																																	0													95	85	89					8																	130789633		2203	4300	6503	SO:0001819	synonymous_variant	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.201G>A	8.37:g.130789633C>T			Q5XKF3|Q6P494	Silent	SNP	pfam_Gasdermin	p.E67	ENST00000276708.4	37	c.201	CCDS6360.1	8																																																																																			GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.433	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	-	0	50	0	C			130789633	-1	tier1	-	no_errors	ENST00000276708	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.152	T	T	130789633	C	T	130789633	2	4	21	1	0	0	0	0	0	0	0	1	6845	796	28	3		3	GSDMC	8	130789633	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	6539524	130789633	15574389	225	5612											
ASAP1	50807	genome.wustl.edu	37	chr8	131370359	131370359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggtggtctcggcgatGaactccgagacagagatctg	8	9	13	11	4	2	3	0	1	2	2	6	6	4	3	2	3	1	0	2	3	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:131370359G>T	ENST00000518721.1	-	3	317	c.90C>A	c.(88-90)ttC>ttA	p.F30L	ASAP1_ENST00000357668.1_Missense_Mutation_p.F30L|ASAP1_ENST00000520625.1_5'Flank	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	30					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTCGGCGATGAACTCCGAGA	0.682																																																	0													102	76	85					8																	131370359		2203	4300	6503	SO:0001583	missense	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.90C>A	8.37:g.131370359G>T	ENSP00000429900:p.Phe30Leu		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.F30L	ENST00000518721.1	37	c.90	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405411	0.83230	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000521426	T;T	0.25749	1.78;1.78	4.34	2.5	0.30297	.	0.214976	0.39615	N	0.001312	T	0.50171	0.1600	M	0.87381	2.88	0.51482	D	0.999923	D;D	0.69078	0.997;0.997	D;D	0.70716	0.97;0.97	T	0.49504	-0.8933	10	0.87932	D	0	.	8.093	0.30811	0.2434:0.0:0.7566:0.0	.	30;30	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	L	30;30;30;23	ENSP00000350297:F30L;ENSP00000429900:F30L	ENSP00000344591:F30L	F	-	3	2	ASAP1	131439541	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.877000	0.39598	0.275000	0.22094	0.313000	0.20887	TTC	ASAP1	-	NULL	ENSG00000153317		0.682	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1		0	56	0	G	NM_018482		131370359	-1			no_errors	ENST00000357668	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	131370359	G	T	131370359	3	4	21	1	0	0	0	0	1	0	0	0	1011	1281	45	3	3411	3	ASAP1	8	131370359	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	580726	131370359	14993663	226	5613											
TG	7038	genome.wustl.edu	37	chr8	134125817	134125817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccacggatgactatgcctCcttctcccgggctctggaga	6	10	10	15	2	2	2	0	1	2	1	5	4	4	3	4	3	1	1	4	3	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr8:134125817C>G	ENST00000220616.4	+	44	7764	c.7724C>G	c.(7723-7725)tCc>tGc	p.S2575C	TG_ENST00000519543.1_Missense_Mutation_p.S708C|TG_ENST00000542445.1_Missense_Mutation_p.S945C|TG_ENST00000377869.1_Missense_Mutation_p.S2518C	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2575					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACTATGCCTCCTTCTCCCGG	0.562																																																	0													64	58	60					8																	134125817		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7724C>G	8.37:g.134125817C>G	ENSP00000220616:p.Ser2575Cys		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.S2575C	ENST00000220616.4	37	c.7724	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430788	0.62844	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543;ENST00000521107	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;0.8	4.83	4.83	0.62350	Carboxylesterase, type B (1);	0.343633	0.25288	N	0.031754	D	0.82683	0.5090	M	0.86343	2.81	0.27096	N	0.96273	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.72982	0.962;0.947;0.979	T	0.77270	-0.2650	10	0.87932	D	0	.	13.0908	0.59166	0.0:0.8389:0.1611:0.0	.	708;945;2575	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	C	2518;1381;2575;945;708;24	ENSP00000367100:S2518C;ENSP00000220616:S2575C;ENSP00000441693:S945C;ENSP00000430430:S708C;ENSP00000430161:S24C	ENSP00000220616:S2575C	S	+	2	0	TG	134194999	0.639000	0.27234	1.000000	0.80357	0.797000	0.45037	2.982000	0.49337	2.381000	0.81170	0.655000	0.94253	TCC	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.562	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	45	0	C	NM_003235		134125817	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	16.36	46	9	SNP	0.999	G	G	134125817	C	G	134125817	3	3	21	1	0	0	0	0	1	0	0	0	15860	855	30	5	7898	5	TG	8	134125817	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	2755458	134125817	12238205	227	5614											
KIAA2026	158358	genome.wustl.edu	37	chr9	5922857	5922857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcaatgctggctttatcgGgcttgcttccggaggagata	7	12	14	8	2	1	1	1	0	0	1	3	3	2	2	1	5	2	4	1	5	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:5922857G>T	ENST00000399933.3	-	8	3138	c.3139C>A	c.(3139-3141)Ccg>Acg	p.P1047T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1017T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1047										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GGCTTTATCGGGCTTGCTTCC	0.433																																																	0													99	93	95					9																	5922857		1896	4121	6017	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3139C>A	9.37:g.5922857G>T	ENSP00000382815:p.Pro1047Thr		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.P1047T	ENST00000399933.3	37	c.3139		9	.	.	.	.	.	.	.	.	.	.	G	7.774	0.708041	0.15239	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.33	2.02	0.26589	.	0.787818	0.11268	N	0.581827	T	0.31199	0.0789	L	0.27053	0.805	0.20926	N	0.999822	B	0.31548	0.328	B	0.34242	0.178	T	0.20638	-1.0269	9	0.38643	T	0.18	0.0379	9.9066	0.41379	0.2514:0.0:0.7486:0.0	.	1047	Q5HYC2	K2026_HUMAN	T	1047;1017	.	ENSP00000370870:P1017T	P	-	1	0	KIAA2026	5912857	0.989000	0.36119	0.790000	0.31976	0.054000	0.15201	1.470000	0.35354	0.095000	0.17434	-0.367000	0.07326	CCG	KIAA2026	-	NULL	ENSG00000183354		0.433	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0	40	0	G	NM_001017969		5922857	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	7.27	51	4	SNP	0.551	T	T	5922857	G	T	5922857	3	4	21	1	0	0	0	0	1	0	0	0	8297	1232	43	3	3176	3	KIAA2026	9	5922857	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		5922857	135290574	228	5615											
TRPM3	80036	genome.wustl.edu	37	chr9	73164474	73164474	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacctttctgaagtcacccGtatcctctcatcattagatg	10	13	5	13	1	4	2	3	1	2	1	6	2	5	2	3	0	0	1	3	0	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:73164474G>T	ENST00000377111.2	-	24	3898	c.3655C>A	c.(3655-3657)Cgg>Agg	p.R1219R	TRPM3_ENST00000396292.4_Silent_p.R1091R|TRPM3_ENST00000377110.3_Silent_p.R1219R|TRPM3_ENST00000360823.2_Silent_p.R1081R|TRPM3_ENST00000358082.3_Silent_p.R1081R|TRPM3_ENST00000396285.1_Silent_p.R1078R|TRPM3_ENST00000377106.1_Silent_p.R1091R|TRPM3_ENST00000377105.1_Silent_p.R1078R|TRPM3_ENST00000423814.3_Silent_p.R1246R|TRPM3_ENST00000396280.5_Silent_p.R1068R|TRPM3_ENST00000408909.2_Silent_p.R1078R|TRPM3_ENST00000357533.2_Silent_p.R1223R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1244					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAGTCACCCGTATCCTCTCA	0.428																																																	0													193	150	165					9																	73164474		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3655C>A	9.37:g.73164474G>T			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.R1246	ENST00000377111.2	37	c.3736		9	.	.	.	.	.	.	.	.	.	.	G	9.233	1.036387	0.19669	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.77418	0.4127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73503	-0.3962	4	.	.	.	-19.6412	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	K	1067	.	.	T	-	2	0	TRPM3	72354294	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.922000	0.63404	2.937000	0.99478	0.650000	0.86243	ACG	TRPM3	-	NULL	ENSG00000083067		0.428	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	59	0	G	NM_206945		73164474	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	73164474	G	T	73164474	2	4	21	1	0	0	0	0	0	0	0	1	16635	1144	40	2		2	TRPM3	9	73164474	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	67241617	73164474	68048957	229	5616											
VPS13A	23230	genome.wustl.edu	37	chr9	79910572	79910572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaaaggagttccagaatgGcactggatattaacatcaaa	17	8	8	8	0	1	1	1	0	0	1	2	3	2	3	1	3	1	2	1	3	5	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:79910572G>T	ENST00000360280.3	+	33	3882	c.3622G>T	c.(3622-3624)Gca>Tca	p.A1208S	VPS13A_ENST00000357409.5_Missense_Mutation_p.A1208S|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.A1208S|VPS13A_ENST00000376636.3_Missense_Mutation_p.A1169S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1208					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTCCAGAATGGCACTGGATAT	0.443																																																	0													144	131	135					9																	79910572		2203	4300	6503	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3622G>T	9.37:g.79910572G>T	ENSP00000353422:p.Ala1208Ser		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A1208S	ENST00000360280.3	37	c.3622	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618361	0.14129	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.36	4.45	0.53987	.	0.215439	0.37393	N	0.002108	T	0.14787	0.0357	L	0.31752	0.955	0.80722	D	1	B;P;P;P	0.48640	0.365;0.736;0.913;0.913	B;B;B;B	0.44278	0.09;0.198;0.445;0.445	T	0.04413	-1.0953	10	0.10636	T	0.68	.	15.8032	0.78471	0.0:0.0:0.8629:0.1371	.	1169;1208;1208;1208	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	1208;1169;1208;1208	ENSP00000365821:A1208S;ENSP00000365823:A1169S;ENSP00000353422:A1208S;ENSP00000349985:A1208S	ENSP00000349985:A1208S	A	+	1	0	VPS13A	79100392	0.992000	0.36948	0.939000	0.37840	0.397000	0.30659	1.681000	0.37618	1.385000	0.46445	0.563000	0.77884	GCA	VPS13A	-	NULL	ENSG00000197969		0.443	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0	49	0	G	NM_015186		79910572	1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	79910572	G	T	79910572	3	4	21	1	0	0	0	0	1	0	0	0	17238	1203	42	3	3752	3	VPS13A	9	79910572	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6746098	79910572	61302859	230	5617											
AGTPBP1	23287	genome.wustl.edu	37	chr9	88292466	88292466	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatttgtgaaccacctttGgtgactaagaaactcactct	13	13	6	9	0	2	3	1	2	1	1	2	3	2	3	2	1	2	0	2	1	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:88292466G>T	ENST00000357081.3	-	6	465	c.321C>A	c.(319-321)acC>acA	p.T107T	AGTPBP1_ENST00000376109.3_Silent_p.T159T|AGTPBP1_ENST00000376080.1_Silent_p.T49T|AGTPBP1_ENST00000376083.3_Silent_p.T107T|AGTPBP1_ENST00000376081.4_Silent_p.T107T|AGTPBP1_ENST00000337006.4_Silent_p.T49T|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000432218.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	107					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AACCACCTTTGGTGACTAAGA	0.299																																																	0													115	112	113					9																	88292466		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.321C>A	9.37:g.88292466G>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T159	ENST00000357081.3	37	c.477		9																																																																																			AGTPBP1	-	superfamily_ARM-type_fold	ENSG00000135049		0.299	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1		0	21	0	G	NM_015239		88292466	-1			no_errors	ENST00000376109	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.998	T	T	88292466	G	T	88292466	2	4	21	1	0	0	0	0	0	0	0	1	400	1335	47	3		3	AGTPBP1	9	88292466	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8381894	88292466	52920965	231	5618											
CTSL1	1514	genome.wustl.edu	37	chr9	90344621	90344621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgttgctattgatgcagGtcatgagtccttcctgttct	5	18	9	9	0	3	2	1	2	2	0	5	2	5	2	2	1	2	4	2	1	1	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:90344621G>T	ENST00000343150.5	+	6	1645	c.755G>T	c.(754-756)gGt>gTt	p.G252V	CTSL_ENST00000495822.1_3'UTR|CTSL_ENST00000340342.6_Missense_Mutation_p.G252V			P07711	CATL1_HUMAN	cathepsin L	252					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										ATTGATGCAGGTCATGAGTCC	0.433																																																	0													151	144	146					9																	90344621		2203	4300	6503	SO:0001583	missense	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.755G>T	9.37:g.90344621G>T	ENSP00000345344:p.Gly252Val		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.G252V	ENST00000343150.5	37	c.755	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474563	0.43942	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.21932	1.98;1.98	4.19	0.129	0.14739	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.31136	0.0787	L	0.52206	1.635	0.21290	N	0.999731	B	0.25007	0.116	P	0.47705	0.555	T	0.49808	-0.8900	10	0.72032	D	0.01	.	8.9606	0.35845	0.3163:0.0:0.6837:0.0	.	252	P07711	CATL1_HUMAN	V	252	ENSP00000345344:G252V;ENSP00000365061:G252V	ENSP00000365061:G252V	G	+	2	0	CTSL1	89534441	0.257000	0.24022	0.000000	0.03702	0.062000	0.15995	3.104000	0.50306	-0.177000	0.10690	0.655000	0.94253	GGT	CTSL	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000135047		0.433	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL	HGNC	protein_coding	OTTHUMT00000052936.1	-	0	34	0	G	NM_001912		90344621	1	tier1	-	no_errors	ENST00000340342	ensembl	human	known	74_37	missense	55.88	15	19	SNP	0.011	T	T	90344621	G	T	90344621	3	4	21	1	0	0	0	0	1	0	0	0	4047	1261	44	3	773	3	CTSL1	9	90344621	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2052155	90344621	50868810	232	5619											
ECM2	1842	genome.wustl.edu	37	chr9	95263118	95263118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataattctctcagagaatGatatgccccatagaaggaga	17	9	8	7	0	2	4	1	1	1	3	3	6	2	4	2	1	1	0	2	1	6	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:95263118G>T	ENST00000344604.5	-	9	1971	c.1822C>A	c.(1822-1824)Cat>Aat	p.H608N	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.H586N	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	608					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CTCAGAGAATGATATGCCCCA	0.413																																																	0													124	118	120					9																	95263118		2203	4300	6503	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1822C>A	9.37:g.95263118G>T	ENSP00000344758:p.His608Asn		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.H608N	ENST00000344604.5	37	c.1822	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618565	0.28801	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.56941	0.43;0.43	5.12	4.21	0.49690	.	0.477728	0.24233	N	0.040335	T	0.32615	0.0835	N	0.05487	-0.04	0.39456	D	0.967482	B;B;B	0.23990	0.008;0.095;0.022	B;B;B	0.27170	0.026;0.077;0.022	T	0.12066	-1.0562	10	0.11485	T	0.65	.	15.4861	0.75569	0.0:0.1511:0.8489:0.0	.	608;586;586	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	N	586;608	ENSP00000393971:H586N;ENSP00000344758:H608N	ENSP00000344758:H608N	H	-	1	0	ECM2	94302939	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	4.174000	0.58256	1.256000	0.44068	0.591000	0.81541	CAT	ECM2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000106823		0.413	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	-	0	51	0	G	NM_001393		95263118	-1	tier1	-	no_errors	ENST00000344604	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.997	T	T	95263118	G	T	95263118	3	4	21	1	0	0	0	0	1	0	0	0	4912	1290	45	3	285	3	ECM2	9	95263118	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4918497	95263118	45950313	233	5620											
ZNF484	83744	genome.wustl.edu	37	chr9	95608570	95608570	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccataattgtggcatGgagcactctacttccccatt	10	11	6	14	0	1	0	0	0	1	0	2	1	2	1	4	2	2	2	4	2	2	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:95608570G>T	ENST00000375495.3	-	5	2647	c.2499C>A	c.(2497-2499)tcC>tcA	p.S833S	ZNF484_ENST00000395505.2_Silent_p.S797S|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Silent_p.S797S|ZNF484_ENST00000395506.3_Silent_p.S835S	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	833					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATTGTGGCATGGAGCACTCTA	0.438																																																	0													185	179	181					9																	95608570		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"Zinc fingers, C2H2-type", "-"	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2499C>A	9.37:g.95608570G>T			B1AL89|B4DRI2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S835	ENST00000375495.3	37	c.2505	CCDS35066.1	9																																																																																			ZNF484	-	NULL	ENSG00000127081		0.438	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	-	0	72	0	G	XM_046861		95608570	-1	tier1	-	no_errors	ENST00000395506	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.000	T	T	95608570	G	T	95608570	2	4	21	1	0	0	0	0	0	0	0	1	17985	1335	47	3		3	ZNF484	9	95608570	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	345452	95608570	45604861	234	5621											
ZNF510	22869	genome.wustl.edu	37	chr9	99521732	99521732	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccacattcattacatttAtagggtttttctgctgtatg	8	20	6	7	0	2	0	1	0	1	0	3	0	3	0	1	1	2	3	1	1	4	9			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:99521732A>T	ENST00000375231.1	-	6	2030	c.1380T>A	c.(1378-1380)taT>taA	p.Y460*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.Y460*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CATTACATTTATAGGGTTTTT	0.388																																																	0													93	95	94					9																	99521732		2203	4300	6503	SO:0001587	stop_gained	0			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"Zinc fingers, C2H2-type", "-"	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1380T>A	9.37:g.99521732A>T	ENSP00000364379:p.Tyr460*		Q5SZP5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y460*	ENST00000375231.1	37	c.1380	CCDS35074.1	9	.	.	.	.	.	.	.	.	.	.	a	42	9.543120	0.99201	.	.	ENSG00000081386	ENST00000375231;ENST00000223428	.	.	.	3.16	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0494	0.42205	1.0:0.0:0.0:0.0	.	.	.	.	X	460	.	ENSP00000223428:Y460X	Y	-	3	2	ZNF510	98561553	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.070000	0.11523	1.684000	0.51022	0.533000	0.62120	TAT	ZNF510	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000081386		0.388	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF510	HGNC	protein_coding	OTTHUMT00000053287.1	-	0	50	0	A	NM_014930		99521732	-1	tier1	-	no_errors	ENST00000223428	ensembl	human	known	74_37	nonsense	31.88	47	22	SNP	0.568	T	T	99521732	A	T	99521732	4	4	21	1	0	0	0	0	0	1	0	0	18002	456	16	5	675	5	ZNF510	9	99521732	Nonsense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	3913162	99521732	41691699	235	5622											
PSMD5	5711	genome.wustl.edu	37	chr9	123580395	123580395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatattctacaaaacctGgactgttaaacataagtttc	15	12	4	10	0	1	0	0	0	1	0	2	1	1	1	2	1	3	2	2	1	7	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:123580395G>T	ENST00000210313.3	-	10	1378	c.1304C>A	c.(1303-1305)cCa>cAa	p.P435Q	PSMD5_ENST00000373904.5_Missense_Mutation_p.P392Q|PSMD5_ENST00000604848.1_Intron	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	435					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TACAAAACCTGGACTGTTAAA	0.428																																																	0													94	91	92					9																	123580395		2203	4300	6503	SO:0001583	missense	0			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"Proteasome (prosome, macropain) subunits"	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.1304C>A	9.37:g.123580395G>T	ENSP00000210313:p.Pro435Gln		B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold	p.P435Q	ENST00000210313.3	37	c.1304	CCDS6824.1	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976873	0.92982	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.29917	1.55;1.55	5.96	5.96	0.96718	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.60612	0.2282	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55598	-0.8116	10	0.30078	T	0.28	.	19.4101	0.94667	0.0:0.0:1.0:0.0	.	392;435	B4DZM8;Q16401	.;PSMD5_HUMAN	Q	435;392	ENSP00000210313:P435Q;ENSP00000363011:P392Q	ENSP00000210313:P435Q	P	-	2	0	PSMD5	122620216	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	CCA	PSMD5	-	pfam_26S_Psome_nonATP_su5	ENSG00000095261		0.428	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD5	HGNC	protein_coding	OTTHUMT00000053825.2	-	0	47	0	G	NM_005047		123580395	-1	tier1	-	no_errors	ENST00000210313	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	123580395	G	T	123580395	3	4	21	1	0	0	0	0	1	0	0	0	12743	1348	47	3	214	3	PSMD5	9	123580395	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	24058663	123580395	17633036	236	5623											
RC3H2	54542	genome.wustl.edu	37	chr9	125652626	125652626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctcgagccctgacaGcggcccatagattggcagac	9	6	12	14	2	0	3	0	1	0	2	2	4	1	3	3	3	2	2	3	3	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:125652626G>T	ENST00000373670.1	-	3	1148	c.548C>A	c.(547-549)gCt>gAt	p.A183D	RC3H2_ENST00000335387.5_Missense_Mutation_p.A183D|RC3H2_ENST00000423239.2_Missense_Mutation_p.A183D|RC3H2_ENST00000373665.2_Missense_Mutation_p.A183D|RC3H2_ENST00000357244.2_Missense_Mutation_p.A183D|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000471874.2_Missense_Mutation_p.A183D			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	183	ROQ.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGCCCTGACAGCGGCCCATAG	0.478																																																	0													62	63	62					9																	125652626		1910	4128	6038	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.548C>A	9.37:g.125652626G>T	ENSP00000362774:p.Ala183Asp		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.A183D	ENST00000373670.1	37	c.548	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.102283	0.94245	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97470	0.9172	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.97110	0.999;0.981;1.0;0.991	D	0.98085	1.0406	10	0.87932	D	0	-18.2447	18.241	0.89967	0.0:0.0:1.0:0.0	.	183;183;183;183	A6NHN2;Q9HBD1;Q9HBD1-5;Q9HBD1-4	.;RC3H2_HUMAN;.;.	D	183;183;54;183;183;183	ENSP00000362774:A183D;ENSP00000349783:A183D;ENSP00000411767:A183D;ENSP00000362769:A183D;ENSP00000335150:A183D	ENSP00000335150:A183D	A	-	2	0	RC3H2	124692447	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.441000	0.97557	2.559000	0.86315	0.491000	0.48974	GCT	RC3H2	-	NULL	ENSG00000056586		0.478	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0	50	0	G	NM_018835		125652626	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	7.84	46	4	SNP	1.000	T	T	125652626	G	T	125652626	3	4	21	1	0	0	0	0	1	0	0	0	13212	971	34	3	3177	3	RC3H2	9	125652626	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2072231	125652626	15560805	237	5624											
GAPVD1	26130	genome.wustl.edu	37	chr9	128094322	128094322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcccgccccagcacaccagGcctcagtgttgtgtccggta	6	9	10	16	2	1	0	1	0	0	0	3	0	3	0	6	2	1	3	6	2	1	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:128094322G>T	ENST00000495955.1	+	14	2581	c.2291G>T	c.(2290-2292)gGc>gTc	p.G764V	GAPVD1_ENST00000394105.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000265956.4_Missense_Mutation_p.G764V|GAPVD1_ENST00000470056.1_Missense_Mutation_p.G764V|GAPVD1_ENST00000394083.2_Missense_Mutation_p.G743V|GAPVD1_ENST00000297933.6_Missense_Mutation_p.G764V|GAPVD1_ENST00000394104.2_Missense_Mutation_p.G764V|GAPVD1_ENST00000312123.9_Missense_Mutation_p.G743V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	764					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.G764V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCACACCAGGCCTCAGTGTT	0.507																																																	1	Substitution - Missense(1)	lung(1)											104	81	89					9																	128094322		2203	4300	6503	SO:0001583	missense	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2291G>T	9.37:g.128094322G>T	ENSP00000419063:p.Gly764Val		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.G764V	ENST00000495955.1	37	c.2291		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	29.3|29.3|29.3	4.990953|4.990953|4.990953	0.93106|0.93106|0.93106	.|.|.	.|.|.	ENSG00000165219|ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|T;T;T;T;T;T;T;T;T|.	.|0.14516|.	.|2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5;2.5|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.54967|0.54967|0.54967	0.1891|0.1891|0.1891	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;1.0;1.0;1.0|.	.|D;D;D;D;D;D|.	.|0.91635|.	.|0.998;0.996;0.998;0.998;0.998;0.999|.	T|T|T	0.46456|0.46456|0.46456	-0.9190|-0.9190|-0.9190	5|9|5	.|.|.	.|.|.	.|.|.	.|.|.	19.5023|19.5023|19.5023	0.95100|0.95100|0.95100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|764;764;764;743;764;764|.	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.|.;GAPD1_HUMAN;.;.;.;.|.	S|V|S	627|764;764;764;764;743;764;764;764;743|600	.|ENSP00000419767:G764V;ENSP00000377665:G764V;ENSP00000377664:G764V;ENSP00000265956:G764V;ENSP00000377645:G743V;ENSP00000419063:G764V;ENSP00000418747:G764V;ENSP00000297933:G764V;ENSP00000309582:G743V|.	.|.|.	A|G|R	+|+|+	1|2|3	0|0|2	GAPVD1|GAPVD1|GAPVD1	127134143|127134143|127134143	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.987000|0.987000|0.987000	0.75469|0.75469|0.75469	9.869000|9.869000|9.869000	0.99810|0.99810|0.99810	2.850000|2.850000|2.850000	0.98022|0.98022|0.98022	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|GGC|AGG	GAPVD1	-	NULL	ENSG00000165219		0.507	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1		0	25	0	G			128094322	1			no_errors	ENST00000394105	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	128094322	G	T	128094322	3	4	21	1	0	0	0	0	1	0	0	0	6264	1203	42	3	2333	3	GAPVD1	9	128094322	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2441696	128094322	13119109	238	5625											
SARDH	1757	genome.wustl.edu	37	chr9	136599116	136599116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtgctgggcaggggccgGcttgggccttgggccaccac	3	6	18	14	2	0	0	0	0	0	0	0	0	0	0	5	6	1	3	5	6	0	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr9:136599116G>T	ENST00000371872.4	-	2	437	c.180C>A	c.(178-180)agC>agA	p.S60R	SARDH_ENST00000298628.5_Missense_Mutation_p.S60R|SARDH_ENST00000439388.1_Missense_Mutation_p.S60R|SARDH_ENST00000371867.1_5'UTR|SARDH_ENST00000422262.2_Intron	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	60					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCAGGGGCCGGCTTGGGCCTT	0.677																																																	0													29	27	27					9																	136599116		2199	4292	6491	SO:0001583	missense	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.180C>A	9.37:g.136599116G>T	ENSP00000360938:p.Ser60Arg		B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.S60R	ENST00000371872.4	37	c.180	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	G	8.048	0.765461	0.15914	.	.	ENSG00000123453	ENST00000371872;ENST00000439388;ENST00000427237;ENST00000539227;ENST00000535281;ENST00000393050;ENST00000298628	T;T;T	0.73258	-0.73;-0.73;1.65	4.77	3.87	0.44632	.	0.311877	0.34223	N	0.004157	T	0.54191	0.1843	N	0.19112	0.55	0.09310	N	1	B	0.32010	0.351	B	0.33042	0.157	T	0.51772	-0.8663	10	0.62326	D	0.03	-35.7416	8.7942	0.34870	0.0794:0.0:0.7715:0.1491	.	60	Q9UL12	SARDH_HUMAN	R	60;60;60;60;60;38;60	ENSP00000360938:S60R;ENSP00000403084:S60R;ENSP00000298628:S60R	ENSP00000298628:S60R	S	-	3	2	SARDH	135588937	1.000000	0.71417	0.482000	0.27366	0.055000	0.15305	2.962000	0.49176	1.008000	0.39264	0.591000	0.81541	AGC	SARDH	-	NULL	ENSG00000123453		0.677	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1		0	42	0	G			136599116	-1			no_errors	ENST00000371872	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.024	T	T	136599116	G	T	136599116	3	4	21	1	0	0	0	0	1	0	0	0	13886	1194	42	3	2656	3	SARDH	9	136599116	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8504794	136599116	4614315	239	5626											
FRMD4A	55691	genome.wustl.edu	37	chr10	13699399	13699399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacgagtccgcggggtgtaGaagtcggggctcccggtgtc	5	8	17	11	5	0	1	0	0	0	1	4	2	2	1	2	5	1	2	2	5	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:13699399G>C	ENST00000357447.2	-	22	2558	c.2190C>G	c.(2188-2190)ttC>ttG	p.F730L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.F715L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.F730L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	730	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCGGGGTGTAGAAGTCGGGGC	0.652																																																	0													37	35	36					10																	13699399		2203	4300	6503	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2190C>G	10.37:g.13699399G>C	ENSP00000350032:p.Phe730Leu		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.F730L	ENST00000357447.2	37	c.2190	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634401	0.47049	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85556	-1.99;-2.0;-2.0	5.11	4.2	0.49525	.	0.044806	0.85682	D	0.000000	T	0.81123	0.4757	L	0.49126	1.545	0.45227	D	0.99823	B	0.20887	0.049	B	0.22601	0.04	T	0.78585	-0.2147	10	0.44086	T	0.13	-21.5171	12.9763	0.58538	0.0784:0.0:0.9216:0.0	.	730	Q9P2Q2	FRM4A_HUMAN	L	715;730;730	ENSP00000351438:F715L;ENSP00000350032:F730L;ENSP00000367764:F730L	ENSP00000350032:F730L	F	-	3	2	FRMD4A	13739405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.879000	0.48522	2.353000	0.79882	0.436000	0.28706	TTC	FRMD4A	-	NULL	ENSG00000151474		0.652	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	27	0	G	NM_018027		13699399	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	C	C	13699399	G	C	13699399	3	2	21	1	0	0	0	0	1	0	0	0	6075	933	33	5	941	5	FRMD4A	10	13699399	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		13699399	121835348	240	5627											
ITGA8	8516	genome.wustl.edu	37	chr10	15726125	15726125	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgatataaaggagcacagGcctaggaaacatcaaagaca	19	5	10	7	0	1	2	1	1	0	1	1	4	1	4	1	3	2	1	1	3	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:15726125G>T	ENST00000378076.3	-	4	799	c.446C>A	c.(445-447)gCc>gAc	p.A149D		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	149					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGGAGCACAGGCCTAGGAAAC	0.373																																																	0													80	78	78					10																	15726125		2203	4300	6503	SO:0001630	splice_region_variant	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.445-1C>A	10.37:g.15726125G>T			B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.A149D	ENST00000378076.3	37	c.446	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.323890	0.95708	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.59772	0.24	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85511	0.1197	10	0.66056	D	0.02	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	149;149	F5H818;P53708	.;ITA8_HUMAN	D	149	ENSP00000367316:A149D	ENSP00000367316:A149D	A	-	2	0	ITGA8	15766131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GCC	ITGA8	-	NULL	ENSG00000077943		0.373	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	33	0	G	NM_003638	Missense_Mutation	15726125	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	15726125	G	T	15726125	5	4	21	1	0	0	0	0	0	0	1	0	7909	1217	42	3	2853	3	ITGA8	10	15726125	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2026726	15726125	119808622	241	5628											
ARMC4	55130	genome.wustl.edu	37	chr10	28270509	28270509	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttcatcatctgttttGccctttgggaaaaaacaagt	10	14	6	11	0	3	0	2	0	1	0	4	1	4	1	3	1	2	1	3	1	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:28270509G>T	ENST00000305242.5	-	7	914	c.822C>A	c.(820-822)ggC>ggA	p.G274G	ARMC4_ENST00000537576.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000239715.3_Silent_p.G131G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	274					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CATCTGTTTTGCCCTTTGGGA	0.308																																																	0													95	101	99					10																	28270509		2202	4294	6496	SO:0001819	synonymous_variant	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.822C>A	10.37:g.28270509G>T			A8K906|B7Z7I1|Q9H0C0	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.G274	ENST00000305242.5	37	c.822	CCDS7157.1	10																																																																																			ARMC4	-	superfamily_GSKIP_dom	ENSG00000169126		0.308	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1		0	25	0	G	NM_018076		28270509	-1			no_errors	ENST00000305242	ensembl	human	known	74_37	silent	8.33	33	3	SNP	0.288	T	T	28270509	G	T	28270509	2	4	21	1	0	0	0	0	0	0	0	1	954	1306	46	3		3	ARMC4	10	28270509	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	12544384	28270509	107264238	242	5629											
SVIL	6840	genome.wustl.edu	37	chr10	29821901	29821901	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggatcttctgggcttctCactagcccatcaccctccaa	8	10	8	15	0	4	0	2	0	3	0	6	2	5	1	3	2	1	1	3	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:29821901C>G	ENST00000355867.4	-	8	2147	c.1395G>C	c.(1393-1395)gtG>gtC	p.V465V	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Silent_p.V465V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	465					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGGGCTTCTCACTAGCCCAT	0.488																																																	0													98	91	94					10																	29821901		2203	4300	6503	SO:0001819	synonymous_variant	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1395G>C	10.37:g.29821901C>G			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.V465	ENST00000355867.4	37	c.1395	CCDS7164.1	10																																																																																			SVIL	-	NULL	ENSG00000197321		0.488	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	-	0	39	0	C			29821901	-1	tier1	-	no_errors	ENST00000355867	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.000	G	G	29821901	C	G	29821901	2	3	21	1	0	0	0	0	0	0	0	1	15468	813	29	5		5	SVIL	10	29821901	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1551392	29821901	105712846	243	5630											
C10orf68	79741	genome.wustl.edu	37	chr10	33140807	33140807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatagaacatatagggctgGtccaagcttttctaaagaca	14	12	8	7	0	1	2	0	0	1	2	2	2	2	2	1	2	2	2	1	2	8	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:33140807G>C	ENST00000375030.2	+	21	2192	c.1574G>C	c.(1573-1575)gGt>gCt	p.G525A	C10orf68_ENST00000375028.3_Missense_Mutation_p.G570A|C10orf68_ENST00000375025.4_Missense_Mutation_p.G630A			Q9H943	CJ068_HUMAN		566										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TATAGGGCTGGTCCAAGCTTT	0.338																																																	0													143	156	152					10																	33140807		2203	4298	6501	SO:0001583	missense	0																														ENST00000375030.2:c.1574G>C	10.37:g.33140807G>C	ENSP00000364170:p.Gly525Ala		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.G630A	ENST00000375030.2	37	c.1889		10	.	.	.	.	.	.	.	.	.	.	.	2.487	-0.318396	0.05386	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.36157	1.31;1.28;1.27;1.27	2.94	-5.88	0.02290	.	.	.	.	.	T	0.22205	0.0535	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.09377	0.002;0.002;0.001;0.004	T	0.15809	-1.0424	9	0.56958	D	0.05	.	2.7958	0.05401	0.5188:0.2303:0.135:0.1159	.	547;566;570;525	B4DX58;Q9H943;A2A3B4;A2A3D6	.;CJ068_HUMAN;.;.	A	566;525;570;630;542	ENSP00000303710:G566A;ENSP00000364170:G525A;ENSP00000364168:G570A;ENSP00000364165:G630A	ENSP00000303710:G566A	G	+	2	0	C10orf68	33180813	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.727000	0.01860	-2.734000	0.00382	-0.802000	0.03209	GGT	C10orf68	-	NULL	ENSG00000150076		0.338	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	-	0	20	0	G			33140807	1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.000	C	C	33140807	G	C	33140807	3	2	21	1	0	0	0	0	1	0	0	0	1618	1261	44	5	1767	5	C10orf68	10	33140807	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3318906	33140807	102393940	244	5631											
RASGEF1A	221002	genome.wustl.edu	37	chr10	43692530	43692530	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaactcatggatctgtctGgagatctcccagaatttctg	10	13	9	9	0	5	3	1	1	4	2	6	5	5	4	1	2	1	0	1	2	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:43692530G>T	ENST00000395809.1	-	11	3748	c.1242C>A	c.(1240-1242)tcC>tcA	p.S414S	RASGEF1A_ENST00000374459.1_Silent_p.S422S|RASGEF1A_ENST00000395810.1_Silent_p.S414S			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	414	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGATCTGTCTGGAGATCTCCC	0.507																																																	0													155	136	142					10																	43692530		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.1242C>A	10.37:g.43692530G>T			Q8TBF1	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S414	ENST00000395809.1	37	c.1242	CCDS7202.2	10																																																																																			RASGEF1A	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000198915		0.507	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	-	0	64	0	G	NM_145313		43692530	-1	tier1	-	no_errors	ENST00000395809	ensembl	human	known	74_37	silent	15.38	33	6	SNP	1.000	T	T	43692530	G	T	43692530	2	4	21	1	0	0	0	0	0	0	0	1	13114	1335	47	3		3	RASGEF1A	10	43692530	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10551723	43692530	91842217	245	5632											
MAPK8	5599	genome.wustl.edu	37	chr10	49632587	49632587	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagttgggtgcatcatggGagaaatgatcaaaggtggtg	11	10	16	4	0	3	2	3	1	0	1	3	3	3	2	0	4	1	2	0	4	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:49632587G>T	ENST00000374189.1	+	7	869				MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Intron|MAPK8_ENST00000374174.1_Intron|MAPK8_ENST00000360332.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGCATCATGGGAGAAATGATC	0.318																																																	0													199	184	189					10																	49632587		2203	4300	6503	SO:0001627	intron_variant	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.688+385G>T	10.37:g.49632587G>T			B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.G216V	ENST00000374189.1	37	c.647	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605294	0.66445	.	.	ENSG00000107643	ENST00000374179;ENST00000374176	D;D	0.82081	-1.57;-1.57	5.68	5.68	0.88126	.	0.051570	0.85682	D	0.000000	D	0.88952	0.6577	L	0.45581	1.43	0.80722	D	1	D;D	0.65815	0.995;0.983	D;P	0.68943	0.961;0.899	D	0.89084	0.3478	10	0.87932	D	0	.	20.1412	0.98058	0.0:0.0:1.0:0.0	.	216;216	A1L4K2;P45983-3	.;.	V	216	ENSP00000363294:G216V;ENSP00000363291:G216V	ENSP00000363291:G216V	G	+	2	0	MAPK8	49302593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.920000	0.75799	2.838000	0.97847	0.585000	0.79938	GGA	MAPK8	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000107643		0.318	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	-	0	67	0	G			49632587	1	tier1	-	no_errors	ENST00000374176	ensembl	human	known	74_37	missense	8.57	63	6	SNP	1.000	T	T	49632587	G	T	49632587	1	4	21	0	1	0	0	0	0	0	0	0	9321	1174	41	3		3	MAPK8	10	49632587	Intron	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5940057	49632587	85902160	246	5633											
PRKG1	5592	genome.wustl.edu	37	chr10	53667299	53667299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagccttcctgaagagaTcctcagcaagcttgctgatg	10	9	10	12	0	1	4	1	2	0	2	3	5	3	4	4	0	4	3	4	0	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:53667299T>C	ENST00000401604.2	+	5	880	c.686T>C	c.(685-687)aTc>aCc	p.I229T	PRKG1_ENST00000373985.1_Missense_Mutation_p.I217T|PRKG1_ENST00000373980.4_Missense_Mutation_p.I244T			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	229	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTGAAGAGATCCTCAGCAAG	0.408																																																	0													213	194	201					10																	53667299		2203	4300	6503	SO:0001583	missense	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.686T>C	10.37:g.53667299T>C	ENSP00000384200:p.Ile229Thr		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.I244T	ENST00000401604.2	37	c.731	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	T	9.536	1.112007	0.20795	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.14	5.14	0.70334	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	N	0.00746	-1.225	0.50632	D	0.999885	B;B	0.02656	0.0;0.0	B;B	0.12156	0.006;0.007	T	0.14144	-1.0483	10	0.29301	T	0.29	-12.1389	12.8965	0.58101	0.0:0.0:0.0:1.0	.	244;229	Q13976-2;Q13976	.;KGP1_HUMAN	T	229;217;244;102	ENSP00000384200:I229T;ENSP00000363097:I217T;ENSP00000363092:I244T;ENSP00000363087:I102T	ENSP00000363087:I102T	I	+	2	0	PRKG1	53337305	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.663000	0.54518	1.946000	0.56461	0.402000	0.26972	ATC	PRKG1	-	pirsf_cGMP-dependent_protein_kinase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cGMP_dep_kinase,pfscan_cNMP-bd_dom	ENSG00000185532		0.408	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		-	0	64	0	T			53667299	1	tier1	-	no_errors	ENST00000373980	ensembl	human	known	74_37	missense	42.59	31	23	SNP	1.000	C	C	53667299	T	C	53667299	3	2	21	1	0	0	0	0	1	0	0	0	12564	1435	50	4	1019	4	PRKG1	10	53667299	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	4034712	53667299	81867448	247	5634											
PCDH15	65217	genome.wustl.edu	37	chr10	55568657	55568657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgcactgccctcttcaGggatatcttgagcttcaggg	7	13	10	11	0	5	1	2	1	3	0	5	2	5	2	1	2	3	2	1	2	1	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:55568657G>T	ENST00000395445.1	-	36	5547	c.5153C>A	c.(5152-5154)cCt>cAt	p.P1718H	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.P914H|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.P652H|PCDH15_ENST00000395442.1_Missense_Mutation_p.P583H|PCDH15_ENST00000414778.1_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCCTCTTCAGGGATATCTTG	0.468										HNSCC(58;0.16)																																							0													112	89	96					10																	55568657		1568	3579	5147	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5153C>A	10.37:g.55568657G>T	ENSP00000378832:p.Pro1718His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1718H	ENST00000395445.1	37	c.5153		10	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789300	0.31685	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.46	2.24	0.28232	.	.	.	.	.	T	0.44540	0.1298	N	0.14661	0.345	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.25140	0.058;0.058	T	0.38672	-0.9650	9	0.87932	D	0	.	2.0562	0.03582	0.1745:0.1556:0.5094:0.1605	.	1716;1718	C6ZEF5;A2A3E2	.;.	H	1718;914;583;652	ENSP00000378832:P1718H;ENSP00000378833:P914H;ENSP00000378829:P583H;ENSP00000378827:P652H	ENSP00000378827:P652H	P	-	2	0	PCDH15	55238663	0.004000	0.15560	0.026000	0.17262	0.039000	0.13416	1.251000	0.32862	1.309000	0.44985	0.655000	0.94253	CCT	PCDH15	-	NULL	ENSG00000150275		0.468	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	-	0	93	0	G	NM_033056		55568657	-1	tier1	-	no_errors	ENST00000395445	ensembl	human	novel	74_37	missense	6.93	94	7	SNP	0.000	T	T	55568657	G	T	55568657	3	4	21	1	0	0	0	0	1	0	0	0	11550	1000	35	3	763	3	PCDH15	10	55568657	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1901358	55568657	79966090	248	5635											
PCDH15	65217	genome.wustl.edu	37	chr10	55755437	55755437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcttcagcataaactGttgtgataggtgtacccttg	9	14	9	9	0	2	1	1	1	1	0	2	1	2	1	1	1	4	4	1	1	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:55755437G>T	ENST00000320301.6	-	21	3234	c.2840C>A	c.(2839-2841)aCa>aAa	p.T947K	PCDH15_ENST00000373955.1_Missense_Mutation_p.T947K|PCDH15_ENST00000373965.2_Missense_Mutation_p.T954K|PCDH15_ENST00000395445.1_Missense_Mutation_p.T954K|PCDH15_ENST00000395430.1_Missense_Mutation_p.T947K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.T558K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T876K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T947K|PCDH15_ENST00000395432.2_Missense_Mutation_p.T910K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.T925K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T947K|PCDH15_ENST00000414778.1_Missense_Mutation_p.T952K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	947	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGCATAAACTGTTGTGATAGG	0.388										HNSCC(58;0.16)																																							0													163	149	153					10																	55755437		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2840C>A	10.37:g.55755437G>T	ENSP00000322604:p.Thr947Lys		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T947K	ENST00000320301.6	37	c.2840	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650082	0.47362	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.60548	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.18	5.93	4.06	0.47325	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.68109	0.2965	L	0.58354	1.805	0.58432	D	0.999999	P;P;P;P;D;B;P;P;D;D;P;P;P;D	0.63880	0.776;0.776;0.776;0.776;0.993;0.384;0.776;0.494;0.988;0.98;0.776;0.776;0.803;0.979	P;P;P;B;D;B;P;B;P;P;P;P;P;P	0.64410	0.515;0.672;0.493;0.41;0.925;0.299;0.515;0.392;0.904;0.833;0.515;0.515;0.571;0.864	T	0.70612	-0.4824	9	0.72032	D	0.01	.	10.4431	0.44477	0.0695:0.0:0.7948:0.1357	.	925;947;947;952;876;910;947;947;954;954;947;952;947;947	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	954;952;947;947;558;954;910;947;925;947;947;952;876;947	ENSP00000363076:T954K;ENSP00000410304:T952K;ENSP00000378826:T947K;ENSP00000386693:T558K;ENSP00000378832:T954K;ENSP00000378820:T910K;ENSP00000354950:T947K;ENSP00000378821:T925K;ENSP00000322604:T947K;ENSP00000378818:T947K;ENSP00000412628:T876K;ENSP00000363066:T947K	ENSP00000322604:T947K	T	-	2	0	PCDH15	55425443	1.000000	0.71417	0.544000	0.28141	0.140000	0.21249	5.007000	0.63984	1.483000	0.48342	-0.181000	0.13052	ACA	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.388	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0	46	0	G	NM_033056		55755437	-1			no_errors	ENST00000320301	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.980	T	T	55755437	G	T	55755437	3	4	21	1	0	0	0	0	1	0	0	0	11550	1377	48	3	4698	3	PCDH15	10	55755437	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	186780	55755437	79779310	249	5636											
ZNF365	22891	genome.wustl.edu	37	chr10	64416228	64416228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgagaaggacgtcttagGactccaggactttgagaggt	12	9	13	7	1	1	2	0	2	1	2	2	7	2	5	1	4	0	0	1	4	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:64416228G>T	ENST00000395251.1	+	5	798	c.464G>T	c.(463-465)gGa>gTa	p.G155V	AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Missense_Mutation_p.G401V|ZNF365_ENST00000395249.1_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	155										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					gacgtcttaggactccaggac	0.433																																																	0													188	152	164					10																	64416228		2203	4300	6503	SO:0001583	missense	0			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"Zinc fingers, C2H2-type"	18194	protein-coding gene	gene with protein product	"Talanin"	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.464G>T	10.37:g.64416228G>T	ENSP00000378672:p.Gly155Val			Missense_Mutation	SNP	NULL	p.G401V	ENST00000395251.1	37	c.1202	CCDS7265.1	10	.	.	.	.	.	.	.	.	.	.	G	3.464	-0.109431	0.06924	.	.	ENSG00000138311	ENST00000410046;ENST00000395251	T	0.59083	0.29	0.593	0.593	0.17478	.	3.998870	0.00424	N	0.000067	T	0.58206	0.2106	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.979	T	0.55704	-0.8099	9	0.87932	D	0	.	.	.	.	.	155;401	Q70YC4;Q70YC5-3	TALAN_HUMAN;.	V	401;155	ENSP00000378672:G155V	ENSP00000378672:G155V	G	+	2	0	ZNF365	64086234	0.047000	0.20315	0.011000	0.14972	0.008000	0.06430	0.522000	0.22909	0.579000	0.29504	0.585000	0.79938	GGA	ZNF365	-	NULL	ENSG00000138311		0.433	ZNF365-006	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000277036.1		0	60	0	G	NM_014951		64416228	1			no_errors	ENST00000410046	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.013	T	T	64416228	G	T	64416228	3	4	21	1	0	0	0	0	1	0	0	0	17917	1174	41	3	1956	3	ZNF365	10	64416228	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8660791	64416228	71118519	250	5637											
IFIT1B	439996	genome.wustl.edu	37	chr10	91143758	91143758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccctgaagcttcaggatGaaggacaggaagctgaagga	13	7	14	7	0	1	3	1	3	0	0	1	7	1	7	1	4	3	2	1	4	4	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:91143758G>A	ENST00000371809.3	+	2	768	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	230										endometrium(2)|large_intestine(3)|lung(8)	13						GCTTCAGGATGAAGGACAGGA	0.428																																																	0													184	196	192					10																	91143758		2203	4300	6503	SO:0001583	missense	0				CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"Tetratricopeptide (TTC) repeat domain containing"	23442	protein-coding gene	gene with protein product			"interferon-induced protein with tetratricopeptide repeats 1-like"	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.688G>A	10.37:g.91143758G>A	ENSP00000360874:p.Glu230Lys		A7E245	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E230K	ENST00000371809.3	37	c.688	CCDS31242.1	10	.	.	.	.	.	.	.	.	.	.	G	3.197	-0.164626	0.06502	.	.	ENSG00000204010	ENST00000371809	T	0.36699	1.24	4.05	-6.42	0.01932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.803390	0.02785	U	0.121373	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.19148	0.024	T	0.24368	-1.0162	10	0.05351	T	0.99	.	0.5187	0.00608	0.2448:0.199:0.1528:0.4035	.	230	Q5T764	IFT1B_HUMAN	K	230	ENSP00000360874:E230K	ENSP00000360874:E230K	E	+	1	0	IFIT1B	91133738	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.580000	0.00907	-1.086000	0.03084	-1.078000	0.02229	GAA	IFIT1B	-	pfscan_TPR-contain_dom	ENSG00000204010		0.428	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1B	HGNC	protein_coding	OTTHUMT00000049296.3		0	21	0	G	NM_001010987		91143758	1			no_errors	ENST00000371809	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.000	A	A	91143758	G	A	91143758	3	1	21	1	0	0	0	0	1	0	0	0	7549	1291	45	3	694	3	IFIT1B	10	91143758	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	26727530	91143758	44390989	251	5638											
CHUK	1147	genome.wustl.edu	37	chr10	101967073	101967073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcaaacaaataaaccataTagctatcacagcctctctga	17	10	3	11	0	3	1	2	1	1	0	4	1	3	1	2	0	4	1	2	0	8	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:101967073T>C	ENST00000370397.7	-	11	1231	c.1145A>G	c.(1144-1146)tAt>tGt	p.Y382C		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	382					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATAAACCATATAGCTATCACA	0.328																																					Ovarian(159;52 1904 10536 35305 37148)												0													48	49	49					10																	101967073		2202	4293	6495	SO:0001583	missense	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1145A>G	10.37:g.101967073T>C	ENSP00000359424:p.Tyr382Cys		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y382C	ENST00000370397.7	37	c.1145	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079499	0.36662	.	.	ENSG00000213341	ENST00000370397	T	0.58358	0.34	5.68	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	L	0.57536	1.79	0.58432	D	0.999997	B	0.19583	0.037	B	0.12837	0.008	T	0.38200	-0.9672	10	0.39692	T	0.17	-13.7367	9.7859	0.40675	0.0:0.0812:0.0:0.9188	.	382	O15111	IKKA_HUMAN	C	382	ENSP00000359424:Y382C	ENSP00000359424:Y382C	Y	-	2	0	CHUK	101957063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.042000	0.64202	0.992000	0.38840	0.528000	0.53228	TAT	CHUK	-	NULL	ENSG00000213341		0.328	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1		0	13	0	T	NM_001278		101967073	-1			no_errors	ENST00000370397	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	C	C	101967073	T	C	101967073	3	2	21	1	0	0	0	0	1	0	0	0	3423	1406	49	4	1136	4	CHUK	10	101967073	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	10823315	101967073	33567674	252	5639											
KAZALD1	81621	genome.wustl.edu	37	chr10	102824320	102824320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccaggctgtgcgtccCagtgatgagggcacttaccg	8	8	13	12	2	0	3	0	2	0	1	2	3	2	3	3	2	2	2	3	2	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:102824320C>T	ENST00000370200.5	+	4	1061	c.735C>T	c.(733-735)ccC>ccT	p.P245P		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	245	Ig-like C2-type.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CTGTGCGTCCCAGTGATGAGG	0.607																																																	0													61	54	56					10																	102824320		2203	4300	6503	SO:0001819	synonymous_variant	0			AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"Immunoglobulin superfamily / I-set domain containing"	25460	protein-coding gene	gene with protein product		609208	"Kazal-type serine protease inhibitor domain 1"			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.735C>T	10.37:g.102824320C>T			D3DR74|Q6ZMB1|Q9BQ73	Silent	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	p.P245	ENST00000370200.5	37	c.735	CCDS7509.1	10																																																																																			KAZALD1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	ENSG00000107821		0.607	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZALD1	HGNC	protein_coding	OTTHUMT00000049891.2		0	30	0	C	NM_030929		102824320	1			no_errors	ENST00000370200	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.668	T	T	102824320	C	T	102824320	2	4	21	1	0	0	0	0	0	0	0	1	8016	581	21	3		3	KAZALD1	10	102824320	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	857247	102824320	32710427	253	5640											
PDZD8	118987	genome.wustl.edu	37	chr10	119100605	119100605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtctggtatggaaaaaacGgcttaaacctgacaaaagta	17	8	10	6	1	1	1	0	1	1	0	1	2	1	2	1	4	2	3	1	4	9	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:119100605G>T	ENST00000334464.5	-	2	1120	c.881C>A	c.(880-882)cCg>cAg	p.P294Q		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	294					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGGAAAAAACGGCTTAAACCT	0.358																																																	0													119	107	111					10																	119100605		2203	4300	6503	SO:0001583	missense	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.881C>A	10.37:g.119100605G>T	ENSP00000334642:p.Pro294Gln		Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.P294Q	ENST00000334464.5	37	c.881	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066810	0.76301	.	.	ENSG00000165650	ENST00000334464	D	0.95756	-3.8	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	M	0.80616	2.505	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97309	0.9936	10	0.51188	T	0.08	-12.5675	15.6304	0.76904	0.0:0.0:1.0:0.0	.	294	Q8NEN9	PDZD8_HUMAN	Q	294	ENSP00000334642:P294Q	ENSP00000334642:P294Q	P	-	2	0	PDZD8	119090595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.181000	0.65054	2.837000	0.97791	0.591000	0.81541	CCG	PDZD8	-	NULL	ENSG00000165650		0.358	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	-	0	63	0	G	NM_173791		119100605	-1	tier1	-	no_errors	ENST00000334464	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	119100605	G	T	119100605	3	4	21	1	0	0	0	0	1	0	0	0	11744	1116	39	2	2599	2	PDZD8	10	119100605	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	16276285	119100605	16434142	254	5641											
DHX32	55760	genome.wustl.edu	37	chr10	127542725	127542725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accagttctccaagatctggGtttaggttagatccttgata	10	14	9	8	0	2	3	0	1	2	2	4	3	3	3	3	2	0	3	3	2	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:127542725G>T	ENST00000284690.3	-	4	1387	c.897C>A	c.(895-897)aaC>aaA	p.N299K	DHX32_ENST00000284688.6_Intron|DHX32_ENST00000368721.1_5'UTR	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	299						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAAGATCTGGGTTTAGGTTAG	0.343																																																	0													84	86	85					10																	127542725		2203	4299	6502	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.897C>A	10.37:g.127542725G>T	ENSP00000284690:p.Asn299Lys		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.N299K	ENST00000284690.3	37	c.897	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253580	0.22965	.	.	ENSG00000089876	ENST00000284690	T	0.13089	2.62	5.9	3.01	0.34805	.	0.433801	0.27442	N	0.019349	T	0.09992	0.0245	L	0.38953	1.18	0.29801	N	0.832467	B	0.20671	0.047	B	0.14023	0.01	T	0.09335	-1.0679	10	0.44086	T	0.13	-16.6329	6.6869	0.23150	0.2588:0.1225:0.6186:0.0	.	299	Q7L7V1	DHX32_HUMAN	K	299	ENSP00000284690:N299K	ENSP00000284690:N299K	N	-	3	2	DHX32	127532715	0.906000	0.30813	0.015000	0.15790	0.590000	0.36582	0.615000	0.24329	0.827000	0.34685	-0.143000	0.13931	AAC	DHX32	-	superfamily_P-loop_NTPase	ENSG00000089876		0.343	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2		0	43	0	G	NM_018180		127542725	-1			no_errors	ENST00000284690	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.263	T	T	127542725	G	T	127542725	3	4	21	1	0	0	0	0	1	0	0	0	4519	1252	44	3	1366	3	DHX32	10	127542725	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8442120	127542725	7992022	255	5642											
FANK1	92565	genome.wustl.edu	37	chr10	127693454	127693454	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcttccatatgttgcagtCtaatgctggcgtgctatgcg	6	15	10	10	2	2	0	0	0	2	0	3	0	3	0	1	1	4	4	1	1	3	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:127693454C>G	ENST00000368693.1	+	7	645	c.541C>G	c.(541-543)Cta>Gta	p.L181V	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Splice_Site_p.L175V			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	181						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				ATGTTGCAGTCTAATGCTGGC	0.483																																																	0													127	118	121					10																	127693454		2203	4300	6503	SO:0001630	splice_region_variant	0			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.540-1C>G	10.37:g.127693454C>G			Q6UXY9|Q6X7T6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.L181V	ENST00000368693.1	37	c.541	CCDS31309.1	10	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269557	0.59540	.	.	ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	D;D;T	0.81739	-1.53;-1.53;-0.55	5.79	3.95	0.45737	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000018	D	0.89417	0.6709	M	0.86805	2.84	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.993;0.99;0.998	D	0.89163	0.3531	10	0.87932	D	0	-16.0681	9.415	0.38517	0.0:0.7713:0.0:0.2287	.	207;181;181	Q8TC84-3;Q8TC84-2;Q8TC84	.;.;FANK1_HUMAN	V	175;181;159;207	ENSP00000357684:L175V;ENSP00000357682:L181V;ENSP00000357680:L159V	ENSP00000357680:L159V	L	+	1	2	FANK1	127683444	0.997000	0.39634	0.852000	0.33557	0.796000	0.44982	1.977000	0.40589	0.798000	0.33994	0.655000	0.94253	CTA	FANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000203780		0.483	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	HGNC	protein_coding		-	0	111	0	C	NM_145235	Missense_Mutation	127693454	1	tier1	-	no_errors	ENST00000368693	ensembl	human	known	74_37	missense	25.60	93	32	SNP	0.992	G	G	127693454	C	G	127693454	5	3	21	1	0	0	0	0	0	0	1	0	5694	927	32	5	567	5	FANK1	10	127693454	Splice_Site	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	150729	127693454	7841293	256	5643											
MKI67	4288	genome.wustl.edu	37	chr10	129913420	129913420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctctggttttggaagagaGattttctggcttagtggcag	7	15	13	6	0	2	2	0	0	2	2	3	4	3	3	1	4	0	3	1	4	2	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr10:129913420G>C	ENST00000368654.3	-	7	1627	c.1252C>G	c.(1252-1254)Ctc>Gtc	p.L418V	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	418					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGGAAGAGAGATTTTCTGGC	0.433																																																	0													93	96	95					10																	129913420		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1252C>G	10.37:g.129913420G>C	ENSP00000357643:p.Leu418Val		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.L418V	ENST00000368654.3	37	c.1252	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279850	0.23392	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01252	5.1	3.94	1.99	0.26369	.	1.051650	0.07458	N	0.900082	T	0.02380	0.0073	N	0.24115	0.695	0.09310	N	1	D	0.55172	0.97	P	0.54346	0.749	T	0.52087	-0.8622	10	0.87932	D	0	.	4.846	0.13514	0.1249:0.2218:0.6533:0.0	.	418	P46013	KI67_HUMAN	V	418	ENSP00000357643:L418V	ENSP00000357643:L418V	L	-	1	0	MKI67	129803410	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.225000	0.09151	0.397000	0.25310	0.655000	0.94253	CTC	MKI67	-	NULL	ENSG00000148773		0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	51	0	G	NM_002417		129913420	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	39.13	28	18	SNP	0.000	C	C	129913420	G	C	129913420	3	2	21	1	0	0	0	0	1	0	0	0	9636	942	33	5	8554	5	MKI67	10	129913420	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2219966	129913420	5621327	257	5644											
EPS8L2	64787	genome.wustl.edu	37	chr11	721938	721938	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcacggcccccctctGagggcgagttcatcgactgc	5	7	14	15	4	2	1	1	1	1	0	3	3	2	1	3	3	2	2	3	3	0	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:721938G>T	ENST00000533256.1	+	12	1306	c.931G>T	c.(931-933)Gag>Tag	p.E311*	EPS8L2_ENST00000526198.1_Nonsense_Mutation_p.E327*|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Nonsense_Mutation_p.E311*|EPS8L2_ENST00000530636.1_Nonsense_Mutation_p.E311*			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	311					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCCCCTCTGAGGGCGAGTT	0.667																																																	0													30	28	29					11																	721938		2196	4294	6490	SO:0001587	stop_gained	0			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.931G>T	11.37:g.721938G>T	ENSP00000435585:p.Glu311*		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Nonsense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain	p.E311*	ENST00000533256.1	37	c.931	CCDS31328.1	11	.	.	.	.	.	.	.	.	.	.	g	38	7.074577	0.98044	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	.	.	.	3.43	3.43	0.39272	.	0.341281	0.25151	N	0.032742	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-22.9287	14.1421	0.65327	0.0:0.0:1.0:0.0	.	.	.	.	X	311;311;311;327	.	ENSP00000320828:E311X	E	+	1	0	EPS8L2	711938	1.000000	0.71417	0.262000	0.24481	0.442000	0.32017	6.832000	0.75329	1.934000	0.56057	0.586000	0.80456	GAG	EPS8L2	-	NULL	ENSG00000177106		0.667	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1	-	0	46	0	G	NM_022772		721938	1	tier1	-	no_errors	ENST00000318562	ensembl	human	known	74_37	nonsense	12.82	34	5	SNP	0.996	T	T	721938	G	T	721938	4	4	21	1	0	0	0	0	0	1	0	0	5212	1291	45	3	969	3	EPS8L2	11	721938	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		721938	134284578	258	5645											
OR51A7	119687	genome.wustl.edu	37	chr11	4929161	4929161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaggataccatgaagctgGcctgctctgacaacaagacc	13	7	9	12	0	2	3	1	2	1	1	2	4	2	4	3	2	4	2	3	2	4	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:4929161G>T	ENST00000359350.4	+	1	562	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGAAGCTGGCCTGCTCTGA	0.398																																																	0													203	166	178					11																	4929161		2201	4298	6499	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.562G>T	11.37:g.4929161G>T	ENSP00000352305:p.Ala188Ser		Q6IFH8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A188S	ENST00000359350.4	37	c.562	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196320	0.58126	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.36699	1.24	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000244	T	0.38878	0.1057	L	0.35723	1.085	0.36365	D	0.860935	P	0.39551	0.678	P	0.47075	0.536	T	0.29305	-1.0016	10	0.21014	T	0.42	.	17.069	0.86568	0.0:0.0:1.0:0.0	.	188	Q8NH64	O51A7_HUMAN	S	188;188;177	ENSP00000352305:A188S	ENSP00000352305:A188S	A	+	1	0	OR51A7	4885737	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.792000	0.38754	2.596000	0.87737	0.655000	0.94253	GCC	OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176895		0.398	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	-	0	72	0	G	NM_001004749		4929161	1	tier1	-	no_errors	ENST00000359350	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	4929161	G	T	4929161	3	4	21	1	0	0	0	0	1	0	0	0	11127	1203	42	3	564	3	OR51A7	11	4929161	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4207223	4929161	130077355	259	5646											
OR51I2	390064	genome.wustl.edu	37	chr11	5475435	5475435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacgcctcaaagctctcaaCacatgtgtgtcacatatcct	12	10	6	13	1	3	0	3	0	1	0	5	1	4	0	2	0	3	1	2	0	4	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:5475435C>A	ENST00000341449.2	+	1	798	c.717C>A	c.(715-717)aaC>aaA	p.N239K	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	239					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCTCTCAACACATGTGTGT	0.493																																																	0													280	235	250					11																	5475435		2201	4297	6498	SO:0001583	missense	0			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"GPCR / Class A : Olfactory receptors"	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.717C>A	11.37:g.5475435C>A	ENSP00000341987:p.Asn239Lys		Q6IF81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N239K	ENST00000341449.2	37	c.717	CCDS31383.1	11	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867626	0.32977	.	.	ENSG00000187918	ENST00000341449	T	0.00069	8.77	5.58	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.00271	0.0008	M	0.90082	3.085	0.34427	D	0.698147	P	0.40000	0.698	B	0.41946	0.371	T	0.56366	-0.7991	10	0.72032	D	0.01	.	9.7293	0.40350	0.0:0.7127:0.0:0.2873	.	239	Q9H344	O51I2_HUMAN	K	239	ENSP00000341987:N239K	ENSP00000341987:N239K	N	+	3	2	OR51I2	5432011	0.000000	0.05858	0.998000	0.56505	0.434000	0.31775	-0.264000	0.08658	0.482000	0.27582	0.655000	0.94253	AAC	OR51I2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000187918		0.493	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I2	HGNC	protein_coding	OTTHUMT00000143385.1		0	65	0	C	NM_001004754		5475435	1			no_errors	ENST00000341449	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.998	A	A	5475435	C	A	5475435	3	1	21	1	0	0	0	0	1	0	0	0	11140	477	17	3	719	3	OR51I2	11	5475435	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	546274	5475435	129531081	260	5647											
RRP8	23378	genome.wustl.edu	37	chr11	6623317	6623317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaaatgatgcctttttGgggcatttcttcttcctttc	5	18	8	10	0	2	1	0	1	2	0	4	1	3	1	2	3	1	2	2	3	1	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:6623317G>T	ENST00000254605.6	-	2	345	c.228C>A	c.(226-228)ccC>ccA	p.P76P	RRP8_ENST00000534343.1_Intron|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000528995.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	76					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATGCCTTTTTGGGGCATTTCT	0.507																																																	0													99	95	97					11																	6623317		2201	4296	6497	SO:0001819	synonymous_variant	0			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"KIAA0409"	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.228C>A	11.37:g.6623317G>T			Q7KZ78|Q9BVM6	Silent	SNP	pfam_Methyltransferase-rel,pfam_Methyltransf_11	p.P76	ENST00000254605.6	37	c.228	CCDS31411.1	11																																																																																			RRP8	-	NULL	ENSG00000132275		0.507	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP8	HGNC	protein_coding	OTTHUMT00000384505.1		0	73	0	G	NM_015324		6623317	-1			no_errors	ENST00000254605	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	T	T	6623317	G	T	6623317	2	4	21	1	0	0	0	0	0	0	0	1	13735	1335	47	3		3	RRP8	11	6623317	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1147882	6623317	128383199	261	5648											
TMEM9B	56674	genome.wustl.edu	37	chr11	8969870	8969870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattcaattcccaattaGctgaggacaacatgccggtc	12	11	8	10	1	1	2	1	2	0	0	3	3	2	3	2	2	3	1	2	2	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:8969870G>T	ENST00000534025.1	-	5	1053	c.594C>A	c.(592-594)agC>agA	p.S198R	TMEM9B_ENST00000309134.5_Missense_Mutation_p.S124R|TMEM9B_ENST00000525069.1_Missense_Mutation_p.S124R	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	198					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		TTCCCAATTAGCTGAGGACAA	0.448																																																	0													122	117	119					11																	8969870		2201	4296	6497	SO:0001583	missense	0			AJ400877	CCDS7796.1, CCDS66021.1	11p15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000175348	ENSG00000175348			1168	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 15"	C11orf15		11528127	Standard	NM_001286095		Approved		uc001mhe.1	Q9NQ34	OTTHUMG00000165676	ENST00000534025.1:c.594C>A	11.37:g.8969870G>T	ENSP00000433361:p.Ser198Arg		Q7Z649	Missense_Mutation	SNP	pfam_TMEM9	p.S198R	ENST00000534025.1	37	c.594	CCDS7796.1	11	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385831	0.61956	.	.	ENSG00000175348	ENST00000309134;ENST00000534025;ENST00000525069	.	.	.	5.96	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	L	0.40543	1.245	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.64984	-0.6278	9	0.87932	D	0	.	7.1635	0.25677	0.3064:0.0:0.6936:0.0	.	198	Q9NQ34	TMM9B_HUMAN	R	124;198;124	.	ENSP00000311842:S124R	S	-	3	2	TMEM9B	8926446	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.853000	0.55941	1.532000	0.49169	0.655000	0.94253	AGC	TMEM9B	-	NULL	ENSG00000175348		0.448	TMEM9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM9B	HGNC	protein_coding	OTTHUMT00000385722.1	-	0	66	0	G			8969870	-1	tier1	-	no_errors	ENST00000534025	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	8969870	G	T	8969870	3	4	21	1	0	0	0	0	1	0	0	0	16274	962	34	3	6	3	TMEM9B	11	8969870	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2346553	8969870	126036646	262	5649											
PDE3B	5140	genome.wustl.edu	37	chr11	14865564	14865564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctagtggctacaaatGcccctcaggtaggaaatatt	12	12	8	9	0	2	0	1	0	1	0	2	1	2	1	2	3	2	2	2	3	6	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:14865564G>T	ENST00000282096.4	+	12	2865	c.2512G>T	c.(2512-2514)Gcc>Tcc	p.A838S	PDE3B_ENST00000455098.2_Missense_Mutation_p.A787S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	838	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GGCTACAAATGCCCCTCAGGT	0.373																																																	0													90	88	88					11																	14865564		2200	4294	6494	SO:0001583	missense	0			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2512G>T	11.37:g.14865564G>T	ENSP00000282096:p.Ala838Ser		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A838S	ENST00000282096.4	37	c.2512	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166179	0.78339	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.050899	0.85682	D	0.000000	T	0.74846	0.3770	N	0.02985	-0.445	0.58432	D	0.999998	D;D	0.71674	0.992;0.998	P;D	0.69824	0.893;0.966	T	0.78114	-0.2330	10	0.28530	T	0.3	.	20.1374	0.98035	0.0:0.0:1.0:0.0	.	787;838	B7ZM37;Q13370	.;PDE3B_HUMAN	S	838;787	ENSP00000282096:A838S;ENSP00000388644:A787S	ENSP00000282096:A838S	A	+	1	0	PDE3B	14822140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.763000	0.94921	0.563000	0.77884	GCC	PDE3B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000152270		0.373	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	HGNC	protein_coding	OTTHUMT00000386974.1		0	18	0	G	NM_000922		14865564	1			no_errors	ENST00000282096	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	14865564	G	T	14865564	3	4	21	1	0	0	0	0	1	0	0	0	11677	1319	46	3	2558	3	PDE3B	11	14865564	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5895694	14865564	120140952	263	5650											
BDNF	627	genome.wustl.edu	37	chr11	27679710	27679710	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacacgctcagctcccctcgGcgggcagggtcagagtggcg	6	5	15	15	4	2	1	2	0	0	1	4	1	3	1	2	4	1	3	2	4	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:27679710G>T	ENST00000525528.1	-	1	1495	c.402C>A	c.(400-402)cgC>cgA	p.R134R	BDNF_ENST00000314915.6_Silent_p.R142R|BDNF_ENST00000532997.1_Silent_p.R134R|BDNF_ENST00000395981.3_Silent_p.R134R|BDNF_ENST00000420794.1_Silent_p.R134R|BDNF_ENST00000356660.4_Silent_p.R134R|BDNF_ENST00000438929.1_Silent_p.R216R|BDNF_ENST00000533131.1_Silent_p.R134R|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395980.2_Silent_p.R134R|BDNF_ENST00000533246.1_Silent_p.R134R|BDNF_ENST00000395986.2_Silent_p.R149R|BDNF_ENST00000530861.1_Silent_p.R134R|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000439476.2_Silent_p.R134R|BDNF_ENST00000395978.3_Silent_p.R134R|BDNF_ENST00000418212.1_Silent_p.R134R|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000525950.1_Silent_p.R134R|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000395983.3_Silent_p.R134R|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499008.3_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	134					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						GCTCCCCTCGGCGGGCAGGGT	0.552																																																	0													95	93	94					11																	27679710		2202	4299	6501	SO:0001819	synonymous_variant	0			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.402C>A	11.37:g.27679710G>T			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Silent	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel	p.R216	ENST00000525528.1	37	c.648	CCDS7866.1	11																																																																																			BDNF	-	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel	ENSG00000176697		0.552	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF	HGNC	protein_coding	OTTHUMT00000388135.1		0	47	0	G	NM_170735		27679710	-1			no_errors	ENST00000438929	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	27679710	G	T	27679710	2	4	21	1	0	0	0	0	0	0	0	1	1395	1190	42	3		3	BDNF	11	27679710	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	12814146	27679710	107326806	264	5651											
DNAJC24	120526	genome.wustl.edu	37	chr11	31447855	31447855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgatctaagaaatgtagGaccagtagatgctcaagtat	16	10	10	5	0	2	4	1	1	1	3	2	5	2	5	1	1	1	4	1	1	6	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:31447855G>T	ENST00000465995.1	+	4	378	c.272G>T	c.(271-273)gGa>gTa	p.G91V	DNAJC24_ENST00000536040.1_3'UTR	NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	90					chaperone-mediated protein folding (GO:0061077)|oxidation-reduction process (GO:0055114)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of ATPase activity (GO:0032781)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATPase activator activity (GO:0001671)|ferrous iron binding (GO:0008198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						AGAAATGTAGGACCAGTAGAT	0.284																																																	0													114	110	111					11																	31447855		1828	4078	5906	SO:0001583	missense	0			AL833128	CCDS7873.2	11p14.1	2011-09-02	2008-07-03	2008-07-03	ENSG00000170946	ENSG00000170946		"Heat shock proteins / DNAJ (HSP40)"	26979	protein-coding gene	gene with protein product		611072	"zinc finger, CSL-type containing 3", "DPH4 homolog (JJJ3, S. cerevisiae)", "DPH4, JJJ3 homolog (S. cerevisiae)"	ZCSL3, DPH4		15485916	Standard	NM_181706		Approved	JJJ3	uc001msx.3	Q6P3W2	OTTHUMG00000133712	ENST00000465995.1:c.272G>T	11.37:g.31447855G>T	ENSP00000417548:p.Gly91Val		A8K0V0|B1ALC1|I6L9B4	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain	p.G91V	ENST00000465995.1	37	c.272	CCDS7873.2	11	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306168	0.60305	.	.	ENSG00000170946	ENST00000465995	T	0.33654	1.4	5.52	5.52	0.82312	.	0.052588	0.85682	D	0.000000	T	0.48223	0.1488	M	0.66939	2.045	0.80722	D	1	D	0.71674	0.998	P	0.52267	0.694	T	0.31586	-0.9938	10	0.17369	T	0.5	.	17.9764	0.89129	0.0:0.0:1.0:0.0	.	90	Q6P3W2	DJC24_HUMAN	V	91	ENSP00000417548:G91V	ENSP00000417548:G91V	G	+	2	0	DNAJC24	31404431	1.000000	0.71417	0.992000	0.48379	0.804000	0.45430	7.181000	0.77682	2.744000	0.94065	0.650000	0.86243	GGA	DNAJC24	-	NULL	ENSG00000170946		0.284	DNAJC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC24	HGNC	protein_coding	OTTHUMT00000258011.3	-	0	26	0	G	NM_181706		31447855	1	tier1	-	no_errors	ENST00000465995	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	T	T	31447855	G	T	31447855	3	4	21	1	0	0	0	0	1	0	0	0	4656	1174	41	3	282	3	DNAJC24	11	31447855	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3768145	31447855	103558661	265	5652											
LRRC4C	57689	genome.wustl.edu	37	chr11	40137250	40137250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggttcaaatacctcaagTtggacagaccttcaaaggca	15	8	8	10	0	3	1	3	0	0	1	3	2	3	2	2	3	1	3	2	3	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:40137250T>A	ENST00000278198.2	-	2	2556	c.593A>T	c.(592-594)aAc>aTc	p.N198I	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N198I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N198I|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N198I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	198					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATACCTCAAGTTGGACAGACC	0.423																																																	0													93	90	91					11																	40137250		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.593A>T	11.37:g.40137250T>A	ENSP00000278198:p.Asn198Ile		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.N198I	ENST00000278198.2	37	c.593	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242572	0.58995	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.05855	3.38;3.38;3.38;3.38	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.02202	-1.1196	10	0.72032	D	0.01	.	15.3632	0.74499	0.0:0.0:0.0:1.0	.	198	Q9HCJ2	LRC4C_HUMAN	I	198	ENSP00000278198:N198I;ENSP00000436976:N198I;ENSP00000437132:N198I;ENSP00000434761:N198I	ENSP00000278198:N198I	N	-	2	0	LRRC4C	40093826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.222000	0.72286	0.528000	0.53228	AAC	LRRC4C	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148948		0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	21	0	T	NM_020929		40137250	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A	A	40137250	T	A	40137250	3	1	21	1	0	0	0	0	1	0	0	0	9043	1725	60	5	1333	5	LRRC4C	11	40137250	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	8689395	40137250	94869266	266	5653											
CHST1	8534	genome.wustl.edu	37	chr11	45671711	45671711	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgccgtaccagagccGccagagccggtacgtgtcgc	6	5	14	16	6	0	2	0	0	0	2	1	2	0	2	6	2	5	2	6	2	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:45671711G>T	ENST00000308064.2	-	4	1433	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	255					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TACCAGAGCCGCCAGAGCCGG	0.637																																																	0													68	60	63					11																	45671711		2203	4299	6502	SO:0001819	synonymous_variant	0			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.763C>A	11.37:g.45671711G>T			D3DQP2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.R255	ENST00000308064.2	37	c.763	CCDS7913.1	11																																																																																			CHST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000175264		0.637	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1		0	46	0	G	NM_003654		45671711	-1			no_errors	ENST00000308064	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	T	T	45671711	G	T	45671711	2	4	21	1	0	0	0	0	0	0	0	1	3404	1086	38	2		2	CHST1	11	45671711	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5534461	45671711	89334805	267	5654											
AGBL2	79841	genome.wustl.edu	37	chr11	47688578	47688578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtttttgaaaaaggttGgctgcttttgcagagtagaa	11	14	12	4	0	0	4	0	2	0	2	0	4	0	4	0	2	2	6	0	2	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:47688578G>T	ENST00000525123.1	-	17	2663	c.2378C>A	c.(2377-2379)cCa>cAa	p.P793Q	AGBL2_ENST00000528244.1_Missense_Mutation_p.P755Q|AGBL2_ENST00000357610.3_Missense_Mutation_p.P795Q|AGBL2_ENST00000529712.1_5'Flank|AGBL2_ENST00000298861.4_Missense_Mutation_p.P793Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	793						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAAAAAGGTTGGCTGCTTTTG	0.333																																																	0													58	59	59					11																	47688578		2201	4298	6499	SO:0001583	missense	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2378C>A	11.37:g.47688578G>T	ENSP00000435582:p.Pro793Gln		A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	pfam_Peptidase_M14	p.P795Q	ENST00000525123.1	37	c.2384	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	G	10.23	1.293641	0.23564	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.09817	3.01;3.01;3.01;2.94	5.3	0.957	0.19613	.	1.124620	0.06768	N	0.782959	T	0.11196	0.0273	L	0.57536	1.79	0.09310	N	1	P;B	0.45474	0.859;0.144	B;B	0.40009	0.316;0.016	T	0.28235	-1.0050	10	0.45353	T	0.12	-0.9689	3.0386	0.06130	0.0877:0.156:0.435:0.3213	.	755;793	F6U0I4;Q5U5Z8	.;CBPC2_HUMAN	Q	176;793;795;793;755	ENSP00000435582:P793Q;ENSP00000350228:P795Q;ENSP00000298861:P793Q;ENSP00000436630:P755Q	ENSP00000298861:P793Q	P	-	2	0	AGBL2	47645154	0.005000	0.15991	0.010000	0.14722	0.070000	0.16714	0.224000	0.17738	0.296000	0.22592	0.591000	0.81541	CCA	AGBL2	-	NULL	ENSG00000165923		0.333	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	HGNC	protein_coding	OTTHUMT00000383726.2		0	23	0	G	NM_024783		47688578	-1			no_errors	ENST00000357610	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.001	T	T	47688578	G	T	47688578	3	4	21	1	0	0	0	0	1	0	0	0	376	1348	47	3	342	3	AGBL2	11	47688578	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2016867	47688578	87317938	268	5655											
OR4C12	283093	genome.wustl.edu	37	chr11	50003299	50003299	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatacagggcacaaagaataAgacaactactatgatgtgag	18	8	9	6	0	0	4	0	2	0	2	0	4	0	4	0	1	3	1	0	1	8	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:50003299A>C	ENST00000335238.4	-	1	772	c.739T>G	c.(739-741)Tta>Gta	p.L247V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACAAAGAATAAGACAACTACT	0.413																																																	0													78	71	73					11																	50003299		2201	4296	6497	SO:0001583	missense	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.739T>G	11.37:g.50003299A>C	ENSP00000334418:p.Leu247Val		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L247V	ENST00000335238.4	37	c.739	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	11.87	1.767248	0.31320	.	.	ENSG00000221954	ENST00000335238	T	0.00265	8.39	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.239135	0.21324	U	0.076410	T	0.00412	0.0013	M	0.74467	2.265	0.09310	N	1	P	0.47302	0.893	P	0.61940	0.896	T	0.36648	-0.9739	10	0.87932	D	0	.	5.5805	0.17247	0.7549:0.0:0.0:0.2451	.	247	Q96R67	OR4CC_HUMAN	V	247	ENSP00000334418:L247V	ENSP00000334418:L247V	L	-	1	2	OR4C12	49959875	0.000000	0.05858	0.235000	0.24058	0.631000	0.37964	-0.566000	0.05922	1.387000	0.46486	0.325000	0.21440	TTA	OR4C12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221954		0.413	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	-	0	41	0	A	NM_001005270		50003299	-1	tier1	-	no_errors	ENST00000335238	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.007	C	C	50003299	A	C	50003299	3	2	21	1	0	0	0	0	1	0	0	0	11085	69	3	4	194	4	OR4C12	11	50003299	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	2314721	50003299	85003217	269	5656											
OR5D14	219436	genome.wustl.edu	37	chr11	55563633	55563633	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcatcccccacctgctgcTtttcagcttcgccaccttca	6	12	4	19	1	3	0	3	0	0	0	5	0	4	0	5	0	3	3	5	0	0	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:55563633T>G	ENST00000335605.1	+	1	602	c.602T>G	c.(601-603)cTt>cGt	p.L201R		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CACCTGCTGCTTTTCAGCTTC	0.408																																																	0													206	197	200					11																	55563633		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.602T>G	11.37:g.55563633T>G	ENSP00000334456:p.Leu201Arg		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L201R	ENST00000335605.1	37	c.602	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	t	9.117	1.007941	0.19199	.	.	ENSG00000186113	ENST00000335605	T	0.00237	8.47	5.08	2.76	0.32466	GPCR, rhodopsin-like superfamily (1);	0.178467	0.27181	N	0.020560	T	0.00412	0.0013	M	0.87097	2.86	0.09310	N	1	P	0.42078	0.77	P	0.54590	0.756	T	0.35001	-0.9806	10	0.87932	D	0	-14.1801	3.5992	0.08018	0.1563:0.2574:0.0:0.5863	.	201	Q8NGL3	OR5DE_HUMAN	R	201	ENSP00000334456:L201R	ENSP00000334456:L201R	L	+	2	0	OR5D14	55320209	0.004000	0.15560	0.003000	0.11579	0.004000	0.04260	1.314000	0.33597	0.292000	0.22492	-0.269000	0.10298	CTT	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.408	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0	117	0	T	NM_001004735		55563633	1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	27.43	82	31	SNP	0.000	G	G	55563633	T	G	55563633	3	3	21	1	0	0	0	0	1	0	0	0	11194	1609	56	4	604	4	OR5D14	11	55563633	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	5560334	55563633	79442883	270	5657											
OR5W2	390148	genome.wustl.edu	37	chr11	55681210	55681210	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatcagggggttcaacatGggaaccacaagggtgtaaaa	16	7	12	6	0	2	0	2	0	0	0	2	1	2	1	1	4	2	2	1	4	7	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:55681210G>T	ENST00000344514.1	-	1	848	c.849C>A	c.(847-849)ccC>ccA	p.P283P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGTTCAACATGGGAACCACAA	0.358																																					Melanoma(48;171 1190 15239 43886 49348)												0													47	53	51					11																	55681210		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.849C>A	11.37:g.55681210G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P283	ENST00000344514.1	37	c.849	CCDS31513.1	11																																																																																			OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000187612		0.358	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1		0	33	0	G	NM_001001960		55681210	-1			no_errors	ENST00000344514	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.981	T	T	55681210	G	T	55681210	2	4	21	1	0	0	0	0	0	0	0	1	11224	1335	47	3		3	OR5W2	11	55681210	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	117577	55681210	79325306	271	5658											
OR8H3	390152	genome.wustl.edu	37	chr11	55890770	55890770	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattagagtcatgcagagaAgacaggactccaggtagtta	14	9	11	7	0	2	3	2	0	0	3	3	5	3	4	1	2	1	3	1	2	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:55890770A>C	ENST00000313472.3	+	1	922	c.922A>C	c.(922-924)Aga>Cga	p.R308R		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CATGCAGAGAAGACAGGACTC	0.338																																																	0													80	85	84					11																	55890770		2201	4294	6495	SO:0001819	synonymous_variant	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.922A>C	11.37:g.55890770A>C			Q6IFB7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R308	ENST00000313472.3	37	c.922	CCDS31519.1	11																																																																																			OR8H3	-	NULL	ENSG00000181761		0.338	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	26	0	A	NM_001005201		55890770	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	C	C	55890770	A	C	55890770	2	2	21	1	0	0	0	0	0	0	0	1	11278	64	3	4		4	OR8H3	11	55890770	Silent	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	209560	55890770	79115746	272	5659											
OVOL1	5017	genome.wustl.edu	37	chr11	65554863	65554863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatgccccgcgcgttcctgGtgaagaagccgtgcgtctcc	7	8	12	14	5	1	2	0	1	1	1	3	2	2	2	5	1	3	1	5	1	3	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:65554863G>T	ENST00000335987.3	+	1	371	c.19G>T	c.(19-21)Gtg>Ttg	p.V7L	RP11-770G2.4_ENST00000527453.1_RNA|RP11-770G2.4_ENST00000532454.1_RNA|RP11-770G2.4_ENST00000534178.1_RNA	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	7					cytoskeleton organization (GO:0007010)|epidermal cell differentiation (GO:0009913)|germline cell cycle switching, mitotic to meiotic cell cycle (GO:0051729)|kidney development (GO:0001822)|mesoderm development (GO:0007498)|negative regulation of meiotic cell cycle phase transition (GO:1901994)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CGCGTTCCTGGTGAAGAAGCC	0.667																																																	0													33	32	32					11																	65554863		2187	4287	6474	SO:0001583	missense	0			BC059408	CCDS8112.1	11q13	2013-10-17	2013-10-17		ENSG00000172818	ENSG00000172818		"Zinc fingers, C2H2-type"	8525	protein-coding gene	gene with protein product		602313	"ovo (Drosophila) homolog-like 1", "ovo-like 1(Drosophila)"			9383297	Standard	NM_004561		Approved	HOVO1	uc001ofp.3	O14753	OTTHUMG00000166600	ENST00000335987.3:c.19G>T	11.37:g.65554863G>T	ENSP00000337862:p.Val7Leu		Q6PCB1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V7L	ENST00000335987.3	37	c.19	CCDS8112.1	11	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040452	0.93630	.	.	ENSG00000172818	ENST00000335987	T	0.15718	2.4	3.31	3.31	0.37934	.	0.000000	0.44285	U	0.000468	T	0.39172	0.1068	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.33879	-0.9851	10	0.66056	D	0.02	-15.9848	12.104	0.53801	0.0:0.0:1.0:0.0	.	7	O14753	OVOL1_HUMAN	L	7	ENSP00000337862:V7L	ENSP00000337862:V7L	V	+	1	0	OVOL1	65311439	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	6.239000	0.72356	1.393000	0.46605	0.442000	0.29010	GTG	OVOL1	-	NULL	ENSG00000172818		0.667	OVOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL1	HGNC	protein_coding	OTTHUMT00000390690.1		0	37	0	G	NM_004561		65554863	1			no_errors	ENST00000335987	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	65554863	G	T	65554863	3	4	21	1	0	0	0	0	1	0	0	0	11365	1261	44	3	21	3	OVOL1	11	65554863	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9664093	65554863	69451653	273	5660											
SART1	9092	genome.wustl.edu	37	chr11	65733370	65733370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttaggacctgtacagtGcccgggacctgcagggcctc	6	8	12	15	1	0	0	0	0	0	0	2	2	1	2	5	3	3	2	5	3	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:65733370G>T	ENST00000312397.5	+	7	843	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	251					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTGTACAGTGCCCGGGACCT	0.582																																																	0													107	99	102					11																	65733370		2201	4296	6497	SO:0001583	missense	0			AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"	605941	"squamous cell carcinoma antigen recognised by T cells"			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.751G>T	11.37:g.65733370G>T	ENSP00000310448:p.Ala251Ser		A6NDN1|Q53GB5	Missense_Mutation	SNP	pfam_SART_1	p.A251S	ENST00000312397.5	37	c.751	CCDS31611.1	11	.	.	.	.	.	.	.	.	.	.	G	9.634	1.137266	0.21123	.	.	ENSG00000175467	ENST00000312397;ENST00000542816	T	0.20598	2.06	3.95	3.95	0.45737	.	0.154695	0.42821	D	0.000644	T	0.10551	0.0258	N	0.04705	-0.18	0.38254	D	0.94168	B;B	0.25563	0.129;0.051	B;B	0.26094	0.033;0.066	T	0.10660	-1.0620	10	0.87932	D	0	-10.0867	8.8807	0.35374	0.0:0.0:0.777:0.223	.	93;251	B4DMR4;O43290	.;SNUT1_HUMAN	S	251;93	ENSP00000310448:A251S	ENSP00000310448:A251S	A	+	1	0	SART1	65489946	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.590000	0.53979	2.048000	0.60808	0.313000	0.20887	GCC	SART1	-	pfam_SART_1	ENSG00000175467		0.582	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART1	HGNC	protein_coding	OTTHUMT00000391409.1	-	0	45	0	G			65733370	1	tier1	-	no_errors	ENST00000312397	ensembl	human	known	74_37	missense	10.87	40	5	SNP	0.998	T	T	65733370	G	T	65733370	3	4	21	1	0	0	0	0	1	0	0	0	13891	1319	46	3	777	3	SART1	11	65733370	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	178507	65733370	69273146	274	5661											
INPPL1	3636	genome.wustl.edu	37	chr11	71941179	71941179	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggtgaagctagatgtGaccctgggtgacctgaccaa	11	8	12	10	0	0	5	0	4	0	1	0	5	0	5	3	2	2	1	3	2	4	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:71941179G>T	ENST00000298229.2	+	9	1158	c.954G>T	c.(952-954)gtG>gtT	p.V318V	INPPL1_ENST00000541756.1_Silent_p.V76V|INPPL1_ENST00000538751.1_Silent_p.V76V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	318					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCTAGATGTGACCCTGGGTG	0.617																																																	0													73	67	69					11																	71941179		2200	4293	6493	SO:0001819	synonymous_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.954G>T	11.37:g.71941179G>T			B2RTX5|Q13577|Q13578	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.V318	ENST00000298229.2	37	c.954	CCDS8213.1	11																																																																																			INPPL1	-	NULL	ENSG00000165458		0.617	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	-	0	29	0	G	NM_001567		71941179	1	tier1	-	no_errors	ENST00000298229	ensembl	human	known	74_37	silent	13.89	31	5	SNP	0.999	T	T	71941179	G	T	71941179	2	4	21	1	0	0	0	0	0	0	0	1	7788	1277	45	3		3	INPPL1	11	71941179	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6207809	71941179	63065337	275	5662											
YAP1	10413	genome.wustl.edu	37	chr11	102076665	102076665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagtgctccagtgaaacagCcaccacccctggctccccag	10	5	9	17	0	0	2	0	1	0	1	2	2	2	2	7	1	3	2	7	1	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:102076665C>T	ENST00000282441.5	+	5	1232	c.844C>T	c.(844-846)Cca>Tca	p.P282S	YAP1_ENST00000526343.1_Missense_Mutation_p.P244S|YAP1_ENST00000537274.1_Missense_Mutation_p.P282S|YAP1_ENST00000524575.1_Missense_Mutation_p.P104S|YAP1_ENST00000345877.2_Missense_Mutation_p.P244S|YAP1_ENST00000531439.1_Missense_Mutation_p.P282S	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	282					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|contact inhibition (GO:0060242)|embryonic heart tube morphogenesis (GO:0003143)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|keratinocyte differentiation (GO:0030216)|lateral mesoderm development (GO:0048368)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|notochord development (GO:0030903)|paraxial mesoderm development (GO:0048339)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of keratinocyte proliferation (GO:0010837)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of stem cell proliferation (GO:0072091)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AGTGAAACAGCCACCACCCCT	0.488																																					Colon(50;247 1103 7861 28956)												0													41	47	45					11																	102076665		2203	4299	6502	SO:0001583	missense	0				CCDS8314.1, CCDS44716.1, CCDS8314.2, CCDS53699.1, CCDS53700.1, CCDS60944.1, CCDS73373.1, CCDS73374.1	11q13	2010-03-19	2010-03-19		ENSG00000137693	ENSG00000137693			16262	protein-coding gene	gene with protein product		606608	"Yes-associated protein 1, 65kDa"			7782338	Standard	NM_001130145		Approved	YAP65	uc001pgt.3	P46937	OTTHUMG00000167322	ENST00000282441.5:c.844C>T	11.37:g.102076665C>T	ENSP00000282441:p.Pro282Ser		B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.P282S	ENST00000282441.5	37	c.844	CCDS44716.1	11	.	.	.	.	.	.	.	.	.	.	C	17.28	3.348408	0.61183	.	.	ENSG00000137693	ENST00000526343;ENST00000282441;ENST00000537274;ENST00000345877;ENST00000445250;ENST00000531439;ENST00000524575	T;T;T	0.46451	0.98;1.0;0.87	5.21	5.21	0.72293	.	0.120042	0.56097	D	0.000021	T	0.51534	0.1680	N	0.22421	0.69	0.54753	D	0.999989	D;P;P;P;D;P	0.89917	0.993;0.95;0.9;0.9;1.0;0.94	D;P;P;P;D;P	0.87578	0.979;0.641;0.498;0.574;0.998;0.695	T	0.44513	-0.9323	10	0.26408	T	0.33	.	19.1202	0.93360	0.0:1.0:0.0:0.0	.	104;199;244;282;282;244	B4DTY1;F5GWC5;E9PRV2;P46937-2;P46937;P46937-3	.;.;.;.;YAP1_HUMAN;.	S	244;282;282;244;199;282;104	ENSP00000434134:P244S;ENSP00000331023:P244S;ENSP00000435602:P104S	ENSP00000282441:P282S	P	+	1	0	YAP1	101581875	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.055000	0.57441	2.592000	0.87571	0.561000	0.74099	CCA	YAP1	-	NULL	ENSG00000137693		0.488	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YAP1	HGNC	protein_coding	OTTHUMT00000394151.1	-	0	23	0	C	NM_006106		102076665	1	tier1	-	no_errors	ENST00000282441	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	102076665	C	T	102076665	3	4	21	1	0	0	0	0	1	0	0	0	17515	739	26	3	862	3	YAP1	11	102076665	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	30135486	102076665	32929851	276	5663											
MMP13	4322	genome.wustl.edu	37	chr11	102822858	102822858	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggagtggtcaagacctaAggagtggccgaactcatgcg	10	8	14	9	2	2	1	2	0	0	1	2	4	2	3	2	4	2	0	2	4	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:102822858A>G	ENST00000260302.3	-	5	710	c.682T>C	c.(682-684)Tta>Cta	p.L228L	MMP13_ENST00000340273.4_Silent_p.L228L	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	228	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TCAAGACCTAAGGAGTGGCCG	0.453																																																	0													191	180	184					11																	102822858		2202	4299	6501	SO:0001819	synonymous_variant	0			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"Endogenous ligands"	7159	protein-coding gene	gene with protein product	"collagenase 3"	600108	"matrix metalloproteinase 13 (collagenase 3)"			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.682T>C	11.37:g.102822858A>G			A8K846|B2RCZ3|Q6NWN6	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.L228	ENST00000260302.3	37	c.682	CCDS8324.1	11																																																																																			MMP13	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	ENSG00000137745		0.453	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1	-	0	37	0	A	NM_002427		102822858	-1	tier1	-	no_errors	ENST00000340273	ensembl	human	novel	74_37	silent	44.44	10	8	SNP	0.998	G	G	102822858	A	G	102822858	2	3	21	1	0	0	0	0	0	0	0	1	9690	69	3	4		4	MMP13	11	102822858	Silent	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	746193	102822858	32183658	277	5664											
CARD18	59082	genome.wustl.edu	37	chr11	105009559	105009559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagtgcaaacccatctttGaggcaagttgagggtcttct	9	13	10	9	0	3	2	0	2	3	0	3	2	3	2	1	2	2	3	1	2	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:105009559G>A	ENST00000530950.1	-	2	253	c.254C>T	c.(253-255)tCa>tTa	p.S85L	CARD18_ENST00000526823.1_Missense_Mutation_p.S46L|CARD18_ENST00000532895.1_Missense_Mutation_p.S46L	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	85	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						ACCCATCTTTGAGGCAAGTTG	0.408																																																	0													241	222	228					11																	105009559		1897	4113	6010	SO:0001583	missense	0			AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.254C>T	11.37:g.105009559G>A	ENSP00000436691:p.Ser85Leu		A2RRF8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.S85L	ENST00000530950.1	37	c.254	CCDS53705.1	11	.	.	.	.	.	.	.	.	.	.	.	6.097	0.386122	0.11524	.	.	ENSG00000255501	ENST00000530950;ENST00000526823;ENST00000532895	T;T;T	0.22945	1.93;1.93;1.93	2.58	-5.16	0.02857	DEATH-like (2);Caspase Recruitment (3);	0.900232	0.09540	U	0.788437	T	0.20618	0.0496	.	.	.	0.09310	N	1	B	0.27380	0.177	B	0.41723	0.365	T	0.44345	-0.9334	9	0.30854	T	0.27	.	3.1882	0.06608	0.1367:0.507:0.1492:0.2071	.	85	P57730	CAR18_HUMAN	L	85;46;46	ENSP00000436691:S85L;ENSP00000437035:S46L;ENSP00000437187:S46L	ENSP00000437035:S46L	S	-	2	0	CARD18	104514769	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.296000	0.00522	-2.414000	0.00569	-0.354000	0.07668	TCA	CARD18	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000255501		0.408	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD18	HGNC	protein_coding	OTTHUMT00000388183.2		0	71	0	G	NM_021571		105009559	-1			no_errors	ENST00000530950	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.000	A	A	105009559	G	A	105009559	3	1	21	1	0	0	0	0	1	0	0	0	2656	1294	45	3	22	3	CARD18	11	105009559	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2186701	105009559	29996957	278	5665											
BCO2	83875	genome.wustl.edu	37	chr11	112064319	112064319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccaacagtgctaaaaaccGaattgtgatctcagaatttg	14	10	9	8	1	1	2	1	1	1	1	2	3	1	2	2	1	3	1	2	1	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:112064319G>A	ENST00000357685.5	+	3	551	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	AP002884.3_ENST00000532612.1_Missense_Mutation_p.R110Q|BCO2_ENST00000531169.1_Missense_Mutation_p.R105Q|SDHD_ENST00000525468.1_3'UTR|BCO2_ENST00000438022.1_Missense_Mutation_p.R105Q|BCO2_ENST00000361053.4_Missense_Mutation_p.R139Q|BCO2_ENST00000526088.1_Missense_Mutation_p.R105Q|BCO2_ENST00000393032.2_Missense_Mutation_p.R105Q|BCO2_ENST00000532593.1_Missense_Mutation_p.R34Q			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	139					carotene catabolic process (GO:0016121)|carotene metabolic process (GO:0016119)|carotenoid metabolic process (GO:0016116)|oxidation-reduction process (GO:0055114)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GCTAAAAACCGAATTGTGATC	0.463																																					GBM(177;1916 2099 21049 29541 39946)												0													132	111	119					11																	112064319		2201	4297	6498	SO:0001583	missense	0			AJ290393	CCDS8358.2, CCDS41716.1, CCDS58181.1, CCDS58182.1, CCDS58183.1	11q23.1	2014-05-12	2008-04-15	2008-04-15	ENSG00000197580	ENSG00000197580	1.13.11.71		18503	protein-coding gene	gene with protein product	"beta-carotene 9',10' oxygenase", "carotenoid-9',10'-cleaving dioxygenase"	611740	"beta-carotene dioxygenase 2"	BCDO2		11278918, 15983114, 15949678	Standard	NM_031938		Approved	FLJ34464, B-DIOX-II	uc001pnf.3	Q9BYV7	OTTHUMG00000167155	ENST00000357685.5:c.416G>A	11.37:g.112064319G>A	ENSP00000350314:p.Arg139Gln		B0YIX5|B4DNC3|E9PBI8|E9PJJ1|Q8IUS0|Q96JC8|Q96JY5	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.R139Q	ENST00000357685.5	37	c.416	CCDS8358.2	11	.	.	.	.	.	.	.	.	.	.	G	31	5.068707	0.93950	.	.	ENSG00000197580	ENST00000357685;ENST00000393032;ENST00000361053;ENST00000438022;ENST00000526088;ENST00000532593;ENST00000531169	D;D;D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62;-3.62;-3.62	5.58	4.66	0.58398	.	0.057288	0.64402	N	0.000001	D	0.97583	0.9208	M	0.90369	3.11	0.80722	D	1	D;P;D	0.89917	1.0;0.944;1.0	D;P;D	0.91635	0.999;0.488;0.999	D	0.98202	1.0468	9	.	.	.	-1.3105	14.8123	0.70006	0.0697:0.0:0.9303:0.0	.	116;139;139	C9JEZ9;E9PBI8;Q9BYV7	.;.;BCDO2_HUMAN	Q	139;105;139;105;105;34;105	ENSP00000350314:R139Q;ENSP00000376752:R105Q;ENSP00000354338:R139Q;ENSP00000414843:R105Q;ENSP00000436615:R105Q;ENSP00000431802:R34Q;ENSP00000437053:R105Q	.	R	+	2	0	BCO2	111569529	1.000000	0.71417	0.876000	0.34364	0.938000	0.57974	7.266000	0.78452	1.346000	0.45694	0.655000	0.94253	CGA	BCO2	-	pfam_Carotenoid_Oase	ENSG00000197580		0.463	BCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCO2	HGNC	protein_coding	OTTHUMT00000256570.3		0	50	0	G	NM_001037290		112064319	1			no_errors	ENST00000357685	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	112064319	G	A	112064319	3	1	21	1	0	0	0	0	1	0	0	0	1386	1058	37	1	426	1	BCO2	11	112064319	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7054760	112064319	22942197	279	5666											
IL10RA	3587	genome.wustl.edu	37	chr11	117863957	117863957	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccaactccatttagtGactctgacagttggcagtgt	9	11	8	13	0	1	2	0	2	1	0	2	2	2	2	4	1	1	2	4	1	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:117863957G>T	ENST00000227752.3	+	4	489	c.369G>T	c.(367-369)gtG>gtT	p.V123V	IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Splice_Site_p.V103V	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	123					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TCCATTTAGTGACTCTGACAG	0.542																																																	0													74	70	71					11																	117863957		2200	4296	6496	SO:0001630	splice_region_variant	0			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.368-1G>T	11.37:g.117863957G>T			A8K6I0|B0YJ27	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.D64Y	ENST00000227752.3	37	c.190	CCDS8388.1	11																																																																																			IL10RA	-	superfamily_Fibronectin_type3	ENSG00000110324		0.542	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	HGNC	protein_coding	OTTHUMT00000390167.1		0	44	0	G		Silent	117863957	1			no_errors	ENST00000526544	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.996	T	T	117863957	G	T	117863957	5	4	21	1	0	0	0	0	0	0	1	0	7647	1304	45	3	383	3	IL10RA	11	117863957	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5799638	117863957	17142559	280	5667											
TRAPPC4	51399	genome.wustl.edu	37	chr11	118890872	118890872	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcatataggctctttgccatCggctcccagctgtctcctga	6	12	9	14	1	2	1	0	1	2	0	5	1	3	1	3	2	2	4	3	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:118890872C>G	ENST00000533632.1	+	3	727	c.363C>G	c.(361-363)atC>atG	p.I121M	RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.I121M|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.I121M|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.I78M|RPS25_ENST00000527673.1_5'Flank|MIR3656_ENST00000577421.1_RNA	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	121					dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TCTTTGCCATCGGCTCCCAGC	0.488																																																	0													77	63	68					11																	118890872		2200	4295	6495	SO:0001583	missense	0			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"Trafficking protein particle complex"	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296		ENST00000533632.1:c.363C>G	11.37:g.118890872C>G	ENSP00000436005:p.Ile121Met		A8K3A5|B4DME1	Missense_Mutation	SNP	pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom	p.I121M	ENST00000533632.1	37	c.363	CCDS8407.1	11	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211027	0.58343	.	.	ENSG00000196655	ENST00000533632;ENST00000528230;ENST00000359005;ENST00000533058	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.8	1.6	0.23607	Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.64249	0.2581	M	0.69358	2.11	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.76071	0.967;0.934;0.987	T	0.59069	-0.7523	10	0.45353	T	0.12	-10.2603	7.5708	0.27907	0.0:0.4853:0.0:0.5147	.	121;121;121	B4DF86;Q9Y296;B4DF36	.;TPPC4_HUMAN;.	M	121;78;121;121	ENSP00000436005:I121M;ENSP00000436827:I78M;ENSP00000351896:I121M;ENSP00000432920:I121M	ENSP00000351896:I121M	I	+	3	3	TRAPPC4	118396082	0.972000	0.33761	0.998000	0.56505	0.995000	0.86356	0.064000	0.14437	0.009000	0.14813	0.650000	0.86243	ATC	TRAPPC4	-	pfam_Sybindin,superfamily_Longin-like_dom	ENSG00000196655		0.488	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC4	HGNC	protein_coding	OTTHUMT00000389332.1		0	25	0	C	NM_016146		118890872	1			no_errors	ENST00000533632	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.998	G	G	118890872	C	G	118890872	3	3	21	1	0	0	0	0	1	0	0	0	16509	874	31	5	373	5	TRAPPC4	11	118890872	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1026915	118890872	16115644	281	5668											
VPS11	55823	genome.wustl.edu	37	chr11	118942398	118942398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctaagtgacccttctcaGgacctgcagttcattgtggc	7	11	10	13	0	2	1	2	1	1	0	3	2	2	2	3	2	1	2	3	2	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr11:118942398G>T	ENST00000300793.6	+	6	768	c.726G>T	c.(724-726)caG>caT	p.Q242H	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	243					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ACCCTTCTCAGGACCTGCAGT	0.557																																																	0													112	114	114					11																	118942398		2059	4192	6251	SO:0001583	missense	0			AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"RING-type (C3HC4) zinc fingers"	14583	protein-coding gene	gene with protein product		608549	"vacuolar protein sorting 11 (yeast homolog)"				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.726G>T	11.37:g.118942398G>T	ENSP00000475301:p.Gln242His		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING	p.Q242H	ENST00000300793.6	37	c.726		11																																																																																			VPS11	-	superfamily_WD40_repeat_dom,pirsf_VPS11	ENSG00000160695		0.557	VPS11-201	KNOWN	basic|appris_principal	protein_coding	VPS11	HGNC	protein_coding		-	0	107	0	G	NM_021729		118942398	1	tier1	-	no_errors	ENST00000300793	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T	T	118942398	G	T	118942398	3	4	21	1	0	0	0	0	1	0	0	0	17237	991	35	3	746	3	VPS11	11	118942398	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	51526	118942398	16064118	282	5669											
CACNA1C	775	genome.wustl.edu	37	chr12	2743482	2743482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactatttctgtgatgcatGgaatacatttgacgccttga	10	14	9	8	1	1	3	0	3	1	0	1	4	1	4	1	1	2	2	1	1	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:2743482G>T	ENST00000347598.4	+	32	3992	c.3992G>T	c.(3991-3993)tGg>tTg	p.W1331L	CACNA1C_ENST00000399655.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000327702.7_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.W1311L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.W1308L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399595.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399601.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.W1283L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.W1311L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.W1303L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.W1283L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1331					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTGATGCATGGAATACATTT	0.468																																																	0													79	71	74					12																	2743482		1961	4152	6113	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3992G>T	12.37:g.2743482G>T	ENSP00000266376:p.Trp1331Leu		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.W1283L	ENST00000347598.4	37	c.3848	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202592	0.58234	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399638;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000399634;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99121	-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45;-5.45	5.31	5.31	0.75309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	H	0.99705	4.715	0.80722	D	1	P;P;B;D;D;B;D;D;D;B;B;B;B;B;B;B;B	0.89917	0.515;0.643;0.374;0.996;0.996;0.161;0.999;1.0;0.996;0.414;0.261;0.002;0.385;0.261;0.261;0.385;0.227	B;P;B;D;D;B;D;D;D;B;B;B;B;B;B;B;B	0.85130	0.1;0.876;0.1;0.991;0.991;0.189;0.997;0.991;0.991;0.348;0.189;0.047;0.189;0.189;0.189;0.189;0.1	D	0.96933	0.9682	10	0.87932	D	0	.	18.9677	0.92702	0.0:0.0:1.0:0.0	.	1283;1331;1283;1311;1311;1303;1283;1254;1331;1283;1283;1283;1283;1283;1283;1283;1283	Q13936-14;Q13936;Q13936-33;Q13936-32;Q13936-31;Q13936-30;Q13936-23;Q13936-28;Q13936-11;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	1308;1283;1311;1283;1283;1283;1283;1331;1303;1283;1283;1311;1283;1283;1283;1283;1124	ENSP00000336982:W1308L;ENSP00000382563:W1283L;ENSP00000382547:W1311L;ENSP00000382530:W1283L;ENSP00000382546:W1283L;ENSP00000382500:W1283L;ENSP00000382549:W1283L;ENSP00000266376:W1331L;ENSP00000382515:W1303L;ENSP00000382510:W1283L;ENSP00000341092:W1283L;ENSP00000382537:W1311L;ENSP00000329877:W1283L;ENSP00000382557:W1283L;ENSP00000382542:W1283L;ENSP00000382504:W1283L	ENSP00000323129:W1124L	W	+	2	0	CACNA1C	2613743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.677000	0.98645	2.477000	0.83638	0.655000	0.94253	TGG	CACNA1C	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000151067		0.468	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	47	0	G	NM_000719		2743482	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	2743482	G	T	2743482	3	4	21	1	0	0	0	0	1	0	0	0	2547	1357	47	3	4226	3	CACNA1C	12	2743482	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		2743482	131108413	283	5670											
FGF23	8074	genome.wustl.edu	37	chr12	4488592	4488592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattcttgtggatctgcaGgtggtagctgttcctggctg	4	14	14	9	0	2	0	0	0	2	0	3	1	3	1	2	4	2	5	2	4	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:4488592G>T	ENST00000237837.1	-	1	302	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	53					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGGATCTGCAGGTGGTAGCTG	0.597																																																	0													185	139	155					12																	4488592		2203	4300	6503	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.157C>A	12.37:g.4488592G>T	ENSP00000237837:p.Leu53Met		Q4V758	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.L53M	ENST00000237837.1	37	c.157	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876792	0.72180	.	.	ENSG00000118972	ENST00000237837	D	0.93426	-3.22	3.96	3.96	0.45880	.	0.000000	0.64402	D	0.000001	D	0.97081	0.9046	M	0.89478	3.035	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.97767	1.0224	10	0.72032	D	0.01	-8.8019	17.3281	0.87255	0.0:0.0:1.0:0.0	.	53	Q9GZV9	FGF23_HUMAN	M	53	ENSP00000237837:L53M	ENSP00000237837:L53M	L	-	1	2	FGF23	4358853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.751000	0.62169	2.496000	0.84212	0.655000	0.94253	CTG	FGF23	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000118972		0.597	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	-	0	38	0	G			4488592	-1	tier1	-	no_errors	ENST00000237837	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	4488592	G	T	4488592	3	4	21	1	0	0	0	0	1	0	0	0	5874	991	35	3	610	3	FGF23	12	4488592	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1745110	4488592	129363303	284	5671											
DYRK4	8798	genome.wustl.edu	37	chr12	4714126	4714126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taccgatccccagaagtgatCctgggccacccctacgacgt	9	7	9	16	3	0	2	0	1	0	1	2	4	2	2	7	1	2	0	7	1	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:4714126C>G	ENST00000540757.2	+	9	988	c.828C>G	c.(826-828)atC>atG	p.I276M	DYRK4_ENST00000010132.5_Missense_Mutation_p.I276M|DYRK4_ENST00000545342.1_5'Flank|DYRK4_ENST00000543431.1_Missense_Mutation_p.I276M|RP11-500M8.7_ENST00000536588.1_Missense_Mutation_p.S6C	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAGAAGTGATCCTGGGCCACC	0.572											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66	62	63					12																	4714126		2203	4300	6503	SO:0001583	missense	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.828C>G	12.37:g.4714126C>G	ENSP00000441755:p.Ile276Met	620	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I276M	ENST00000540757.2	37	c.828	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629310	0.67015	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.6	-1.1	0.09872	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75265	0.3826	M	0.69185	2.1	0.80722	D	1	D;D;P	0.89917	1.0;0.957;0.929	D;P;P	0.79108	0.992;0.842;0.902	T	0.74093	-0.3776	10	0.87932	D	0	.	10.1204	0.42616	0.0:0.3744:0.0:0.6256	.	391;276;276	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	M	391;276;276;276	ENSP00000437534:I391M;ENSP00000441755:I276M;ENSP00000010132:I276M;ENSP00000439697:I276M	ENSP00000010132:I276M	I	+	3	3	DYRK4	4584387	0.996000	0.38824	0.996000	0.52242	0.995000	0.86356	0.398000	0.20899	-0.199000	0.10317	0.555000	0.69702	ATC	DYRK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000010219		0.572	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	HGNC	protein_coding	OTTHUMT00000398780.2	-	0	41	0	C			4714126	1	tier1	-	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	28.57	35	14	SNP	0.991	G	G	4714126	C	G	4714126	3	3	21	1	0	0	0	0	1	0	0	0	4872	845	30	5	854	5	DYRK4	12	4714126	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	225534	4714126	129137769	285	5672											
KLRK1	22914	genome.wustl.edu	37	chr12	10541397	10541397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgagacctccgaccacGaatccaccccatcaaatact	12	7	6	16	3	1	1	1	0	0	1	4	4	3	1	6	0	1	0	6	0	3	1	rs544134653	byFrequency	TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:10541397G>T	ENST00000240618.6	-	2	153	c.13C>A	c.(13-15)Cgt>Agt	p.R5S	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.R5S|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	5					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CTCCGACCACGAATCCACCCC	0.383																																																	0													101	92	95					12																	10541397		2203	4300	6503	SO:0001583	missense	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.13C>A	12.37:g.10541397G>T	ENSP00000240618:p.Arg5Ser		A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R5S	ENST00000240618.6	37	c.13	CCDS8623.1	12	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477666	0.44044	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.01933	4.55;4.55	3.62	0.797	0.18654	.	1.108170	0.06929	N	0.810797	T	0.05547	0.0146	L	0.46157	1.445	0.09310	N	1	D;P	0.63880	0.993;0.953	P;P	0.55749	0.783;0.511	T	0.42292	-0.9460	10	0.87932	D	0	.	5.7336	0.18053	0.353:0.0:0.647:0.0	.	5;5	Q8WZ67;P26718	.;NKG2D_HUMAN	S	5	ENSP00000240618:R5S;ENSP00000446003:R5S	ENSP00000240618:R5S	R	-	1	0	KLRK1	10432664	0.001000	0.12720	0.010000	0.14722	0.012000	0.07955	0.638000	0.24674	0.168000	0.19655	-0.170000	0.13304	CGT	KLRK1	-	NULL	ENSG00000213809		0.383	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRK1	HGNC	protein_coding	OTTHUMT00000400269.1		0	23	0	G	NM_007360		10541397	-1			no_errors	ENST00000240618	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.012	T	T	10541397	G	T	10541397	3	4	21	1	0	0	0	0	1	0	0	0	8450	1058	37	2	665	2	KLRK1	12	10541397	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5827271	10541397	123310498	286	5673											
LRP6	4040	genome.wustl.edu	37	chr12	12279828	12279828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaaccaactgtattggtgGcctgtggtgctggttcttca	7	13	12	9	0	2	1	1	0	1	1	2	1	2	1	2	4	3	3	2	4	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:12279828G>T	ENST00000261349.4	-	20	4185	c.4109C>A	c.(4108-4110)gCc>gAc	p.A1370D	LRP6_ENST00000543091.1_Missense_Mutation_p.A1325D|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1370					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TGTATTGGTGGCCTGTGGTGC	0.383																																																	0													92	87	89					12																	12279828		2203	4300	6503	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4109C>A	12.37:g.12279828G>T	ENSP00000261349:p.Ala1370Asp		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A1370D	ENST00000261349.4	37	c.4109	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008513	0.35415	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93659	-3.21;-3.26	5.84	4.92	0.64577	.	0.317556	0.26355	N	0.024841	T	0.82171	0.4979	N	0.01168	-0.975	0.42344	D	0.992347	B;B	0.18310	0.027;0.01	B;B	0.15484	0.009;0.013	T	0.77910	-0.2411	10	0.34782	T	0.22	.	17.0532	0.86525	0.0:0.1265:0.8735:0.0	.	1325;1370	F5H7J9;O75581	.;LRP6_HUMAN	D	1370;1325	ENSP00000261349:A1370D;ENSP00000442472:A1325D	ENSP00000261349:A1370D	A	-	2	0	LRP6	12171095	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.409000	0.80053	2.751000	0.94390	0.563000	0.77884	GCC	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,superfamily_LDrepeatLR_classA_rpt	ENSG00000070018		0.383	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0	76	0	G			12279828	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	6.25	89	6	SNP	1.000	T	T	12279828	G	T	12279828	3	4	21	1	0	0	0	0	1	0	0	0	8997	1203	42	3	748	3	LRP6	12	12279828	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1738431	12279828	121572067	287	5674											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21028192	21028192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctatcagaataactcctaagGactctcgttgggttggagct	10	12	10	9	1	2	1	1	0	1	1	4	3	3	3	1	3	2	3	1	3	4	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:21028192G>C	ENST00000381545.3	+	9	970	c.751G>C	c.(751-753)Gac>Cac	p.D251H	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D251H|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D251H|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.D251H	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	251					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.D251N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AACTCCTAAGGACTCTCGTTG	0.373																																																	1	Substitution - Missense(1)	skin(1)											229	232	231					12																	21028192		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.751G>C	12.37:g.21028192G>C	ENSP00000370956:p.Asp251His		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.D251H	ENST00000381545.3	37	c.751	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	.	13.55	2.269220	0.40095	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02	3.92	3.92	0.45320	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80670	0.4667	M	0.87758	2.905	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.996;0.996	D	0.84761	0.0762	10	0.87932	D	0	.	13.8538	0.63513	0.0:0.0:1.0:0.0	.	251;251;251	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	H	251;251;251;251;75;251	ENSP00000442000:D251H;ENSP00000261196:D251H;ENSP00000370956:D251H;ENSP00000451758:D251H;ENSP00000443225:D75H;ENSP00000441269:D251H	ENSP00000441269:D251H	D	+	1	0	SLCO1B3;RP11-545J16.1	20919459	1.000000	0.71417	0.766000	0.31476	0.009000	0.06853	7.370000	0.79589	2.034000	0.60081	0.461000	0.40582	GAC	SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.373	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	154	0	G	NM_019844		21028192	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	30.69	130	58	SNP	0.957	C	C	21028192	G	C	21028192	3	2	21	1	0	0	0	0	1	0	0	0	14769	1174	41	5	777	5	SLCO1B3	12	21028192	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8748364	21028192	112823703	288	5675											
WNT10B	7480	genome.wustl.edu	37	chr12	49364273	49364273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaacaggagacccgcgaGgcccgagggcggaggccgcg	9	0	19	13	6	0	1	0	0	0	1	0	6	0	3	3	6	1	0	3	6	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:49364273G>T	ENST00000301061.4	-	2	388	c.40C>A	c.(40-42)Ctc>Atc	p.L14I	WNT10B_ENST00000407467.1_Missense_Mutation_p.L14I|WNT10B_ENST00000403957.1_Missense_Mutation_p.L14I	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	14					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						AGACCCGCGAGGCCCGAGGGC	0.682																																																	0													14	21	19					12																	49364273		2199	4300	6499	SO:0001583	missense	0			X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"Wingless-type MMTV integration sites"	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.40C>A	12.37:g.49364273G>T	ENSP00000301061:p.Leu14Ile		B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10	p.L14I	ENST00000301061.4	37	c.40	CCDS8775.1	12	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605288	0.46423	.	.	ENSG00000169884	ENST00000301061;ENST00000407467;ENST00000403957;ENST00000413630;ENST00000420388	T;D;D;T;T	0.85411	-1.11;-1.98;-1.95;-1.21;-0.9	4.72	0.87	0.19102	.	0.830525	0.11078	N	0.602108	T	0.72203	0.3431	N	0.22421	0.69	0.22571	N	0.998978	B;B	0.22346	0.068;0.004	B;B	0.12837	0.008;0.001	T	0.55464	-0.8137	10	0.29301	T	0.29	.	7.2434	0.26109	0.3725:0.0:0.6275:0.0	.	14;14	Q4VAJ4;O00744	.;WN10B_HUMAN	I	14	ENSP00000301061:L14I;ENSP00000384691:L14I;ENSP00000385980:L14I;ENSP00000398473:L14I;ENSP00000404896:L14I	ENSP00000301061:L14I	L	-	1	0	WNT10B	47650540	0.994000	0.37717	0.996000	0.52242	0.994000	0.84299	0.772000	0.26647	-0.041000	0.13558	-0.143000	0.13931	CTC	WNT10B	-	NULL	ENSG00000169884		0.682	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT10B	HGNC	protein_coding	OTTHUMT00000319864.1		0	22	0	G	NM_003394		49364273	-1			no_errors	ENST00000301061	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	49364273	G	T	49364273	3	4	21	1	0	0	0	0	1	0	0	0	17432	1000	35	3	1145	3	WNT10B	12	49364273	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	28336081	49364273	84487622	289	5676											
LIMA1	51474	genome.wustl.edu	37	chr12	50615856	50615856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttaagcctgttcagcGgaacattatatttctctatt	10	17	5	9	1	4	0	2	0	2	0	5	1	4	1	1	1	3	1	1	1	5	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:50615856G>T	ENST00000341247.4	-	4	727	c.578C>A	c.(577-579)cCg>cAg	p.P193Q	LIMA1_ENST00000552783.1_Missense_Mutation_p.P33Q|LIMA1_ENST00000552909.1_Missense_Mutation_p.P33Q|LIMA1_ENST00000552823.1_Missense_Mutation_p.P33Q|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000394943.3_Missense_Mutation_p.P193Q|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	193					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTGTTCAGCGGAACATTATA	0.378																																																	0													184	183	183					12																	50615856		2203	4300	6503	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.578C>A	12.37:g.50615856G>T	ENSP00000340184:p.Pro193Gln		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P193Q	ENST00000341247.4	37	c.578	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639277	0.67244	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D	0.90676	-2.32;-2.71;-1.97;-2.32;-2.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.988;0.944;0.998	D	0.94343	0.7572	10	0.54805	T	0.06	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	202;193;33	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	Q	33;193;193;33;33;112	ENSP00000450266:P33Q;ENSP00000378400:P193Q;ENSP00000340184:P193Q;ENSP00000448779:P33Q;ENSP00000450087:P33Q	ENSP00000340184:P193Q	P	-	2	0	LIMA1	48902123	1.000000	0.71417	0.998000	0.56505	0.658000	0.38924	6.537000	0.73847	2.941000	0.99782	0.655000	0.94253	CCG	LIMA1	-	NULL	ENSG00000050405		0.378	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0	38	0	G	NM_016357		50615856	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.997	T	T	50615856	G	T	50615856	3	4	21	1	0	0	0	0	1	0	0	0	8825	1116	39	2	1736	2	LIMA1	12	50615856	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1251583	50615856	83236039	290	5677											
DIP2B	57609	genome.wustl.edu	37	chr12	51135289	51135289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaattgatattgagacctCggtgtcccggatccacagaa	11	9	9	12	2	0	3	0	2	0	2	3	5	2	4	4	2	0	0	4	2	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:51135289C>T	ENST00000301180.5	+	37	4479	c.4445C>T	c.(4444-4446)tCg>tTg	p.S1482L	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1482						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATTGAGACCTCGGTGTCCCGG	0.463																																																	0													154	127	136					12																	51135289		2203	4300	6503	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4445C>T	12.37:g.51135289C>T	ENSP00000301180:p.Ser1482Leu		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S1482L	ENST00000301180.5	37	c.4445	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.091012	0.94149	.	.	ENSG00000066084	ENST00000301180	T	0.09445	2.98	5.06	5.06	0.68205	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00931	-1.1510	10	0.72032	D	0.01	-11.1985	18.5847	0.91185	0.0:1.0:0.0:0.0	.	1482	Q9P265	DIP2B_HUMAN	L	1482	ENSP00000301180:S1482L	ENSP00000301180:S1482L	S	+	2	0	DIP2B	49421556	1.000000	0.71417	0.956000	0.39512	0.732000	0.41865	5.805000	0.69143	2.783000	0.95769	0.655000	0.94253	TCG	DIP2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066084		0.463	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0	51	0	C	NM_173602		51135289	1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	T	T	51135289	C	T	51135289	3	4	21	1	0	0	0	0	1	0	0	0	4542	893	31	1	4591	1	DIP2B	12	51135289	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	519433	51135289	82716606	291	5678											
GRASP	160622	genome.wustl.edu	37	chr12	52404909	52404909	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtctagccctgcccagctGgctgggctcacaccaggtgg	6	7	14	14	0	2	0	1	0	1	0	2	1	2	0	3	4	3	3	3	4	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:52404909G>T	ENST00000293662.4	+	4	518	c.438G>T	c.(436-438)ctG>ctT	p.L146L	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000552049.1_5'UTR|GRASP_ENST00000380039.2_5'Flank	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	146	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CTGCCCAGCTGGCTGGGCTCA	0.582																																																	0													104	93	97					12																	52404909		2203	4300	6503	SO:0001819	synonymous_variant	0			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.438G>T	12.37:g.52404909G>T			Q6PIF8|Q7Z741	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L146	ENST00000293662.4	37	c.438	CCDS8817.1	12																																																																																			GRASP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000161835		0.582	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	-	0	64	0	G			52404909	1	tier1	-	no_errors	ENST00000293662	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	52404909	G	T	52404909	2	4	21	1	0	0	0	0	0	0	0	1	6782	1335	47	3		3	GRASP	12	52404909	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1269620	52404909	81446986	292	5679											
DGKA	1606	genome.wustl.edu	37	chr12	56347520	56347520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatgggcccaccccccCgctccaccaatttctttggc	5	10	7	19	1	2	0	1	0	1	0	3	0	3	0	6	2	1	2	6	2	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:56347520C>T	ENST00000331886.5	+	24	2630	c.2176C>T	c.(2176-2178)Cgc>Tgc	p.R726C	DGKA_ENST00000394147.1_Missense_Mutation_p.R726C|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.R726C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	726					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACCCCCCCGCTCCACCAA	0.587																																																	0													94	90	91					12																	56347520		2203	4300	6503	SO:0001583	missense	0			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2176C>T	12.37:g.56347520C>T	ENSP00000328405:p.Arg726Cys		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R726C	ENST00000331886.5	37	c.2176	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622758	0.66787	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	D;D;D	0.86366	-2.11;-2.11;-2.11	4.88	3.96	0.45880	.	0.796636	0.11607	N	0.547214	D	0.85754	0.5770	L	0.38175	1.15	0.44807	D	0.997815	D	0.64830	0.994	P	0.48677	0.586	D	0.83950	0.0316	10	0.87932	D	0	.	13.2848	0.60237	0.1654:0.8346:0.0:0.0	.	726	P23743	DGKA_HUMAN	C	726	ENSP00000328405:R726C;ENSP00000377703:R726C;ENSP00000450359:R726C	ENSP00000328405:R726C	R	+	1	0	DGKA	54633787	0.779000	0.28652	0.508000	0.27688	0.893000	0.52053	2.339000	0.43965	1.094000	0.41399	0.561000	0.74099	CGC	DGKA	-	NULL	ENSG00000065357		0.587	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	-	0	35	0	C			56347520	1	tier1	-	no_errors	ENST00000331886	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.975	T	T	56347520	C	T	56347520	3	4	21	1	0	0	0	0	1	0	0	0	4479	652	23	1	2266	1	DGKA	12	56347520	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3942611	56347520	77504375	293	5680											
GLI1	2735	genome.wustl.edu	37	chr12	57864972	57864972	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtgcaagtcaagccaGaacaggggtgcccagtgggg	12	4	16	9	0	1	1	1	0	0	1	1	2	1	1	2	4	4	1	2	4	4	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:57864972G>T	ENST00000228682.2	+	12	2540	c.2449G>T	c.(2449-2451)Gaa>Taa	p.E817*	GLI1_ENST00000543426.1_Nonsense_Mutation_p.E689*|GLI1_ENST00000546141.1_Nonsense_Mutation_p.E776*	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	817			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.E817Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCAAGCCAGAACAGGGGTG	0.602																																					Pancreas(157;841 1936 10503 41495 50368)												1	Substitution - Missense(1)	breast(1)											63	66	65					12																	57864972		2203	4300	6503	SO:0001587	stop_gained	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2449G>T	12.37:g.57864972G>T	ENSP00000228682:p.Glu817*		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E817*	ENST00000228682.2	37	c.2449	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.357482	0.95854	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	.	.	.	4.44	4.44	0.53790	.	0.000000	0.43579	D	0.000541	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	14.956	0.71113	0.0:0.0:1.0:0.0	.	.	.	.	X	689;817;776;776	.	ENSP00000228682:E817X	E	+	1	0	GLI1	56151239	0.998000	0.40836	0.950000	0.38849	0.526000	0.34562	3.005000	0.49521	2.464000	0.83262	0.484000	0.47621	GAA	GLI1	-	NULL	ENSG00000111087		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1		0	24	0	G	NM_005269		57864972	1			no_errors	ENST00000228682	ensembl	human	known	74_37	nonsense	16.67	10	2	SNP	0.996	T	T	57864972	G	T	57864972	4	4	21	1	0	0	0	0	0	1	0	0	6463	943	33	3	2491	3	GLI1	12	57864972	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1517452	57864972	75986923	294	5681											
BEST3	144453	genome.wustl.edu	37	chr12	70048704	70048704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcatttgggtgattcctCagtttccttgttcagctcta	6	17	7	11	0	4	1	3	1	1	0	6	1	6	1	2	1	1	3	2	1	1	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:70048704C>G	ENST00000330891.5	-	10	2216	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q	BEST3_ENST00000488961.1_Missense_Mutation_p.E451Q|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.E558Q	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	664					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGATTCCTCAGTTTCCTTG	0.453																																																	0													136	129	131					12																	70048704		1924	4137	6061	SO:0001583	missense	0			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1990G>C	12.37:g.70048704C>G	ENSP00000332413:p.Glu664Gln		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.E664Q	ENST00000330891.5	37	c.1990	CCDS8992.2	12	.	.	.	.	.	.	.	.	.	.	C	12.95	2.092536	0.36952	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.97941	-4.28;-4.62;-4.58	5.67	4.78	0.61160	.	1.262320	0.06448	U	0.727264	D	0.94608	0.8262	L	0.34521	1.04	0.18873	N	0.999985	P;P	0.44877	0.8;0.845	B;B	0.39299	0.296;0.169	D	0.87648	0.2526	10	0.16896	T	0.51	-4.0108	8.93	0.35663	0.0:0.8304:0.0:0.1696	.	664;451	Q8N1M1;B5MDI8	BEST3_HUMAN;.	Q	451;664;558	ENSP00000433213:E451Q;ENSP00000332413:E664Q;ENSP00000449548:E558Q	ENSP00000332413:E664Q	E	-	1	0	BEST3	68334971	0.002000	0.14202	0.005000	0.12908	0.069000	0.16628	0.694000	0.25512	1.401000	0.46761	0.563000	0.77884	GAG	BEST3	-	NULL	ENSG00000127325		0.453	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2	-	0	56	0	C	NM_152439		70048704	-1	tier1	-	no_errors	ENST00000330891	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.011	G	G	70048704	C	G	70048704	3	3	21	1	0	0	0	0	1	0	0	0	1407	835	29	5	20	5	BEST3	12	70048704	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	12183732	70048704	63803191	295	5682											
CEP290	80184	genome.wustl.edu	37	chr12	88524980	88524980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttcattttctgcctcctCatttcgaagagccaactaaa	10	15	5	11	1	3	1	2	0	1	1	5	2	4	1	3	0	3	1	3	0	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:88524980C>T	ENST00000552810.1	-	7	800	c.457G>A	c.(457-459)Gag>Aag	p.E153K	CEP290_ENST00000309041.7_Missense_Mutation_p.E153K|CEP290_ENST00000397838.3_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	153					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCTGCCTCCTCATTTCGAAGA	0.274																																																	0													96	84	88					12																	88524980		1770	4029	5799	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.457G>A	12.37:g.88524980C>T	ENSP00000448012:p.Glu153Lys		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.E153K	ENST00000552810.1	37	c.457	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567565	0.86439	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.66638	-0.22;-0.22	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68318	-0.5440	10	0.20046	T	0.44	.	19.3369	0.94322	0.0:1.0:0.0:0.0	.	153	O15078	CE290_HUMAN	K	153;153;153;55	ENSP00000448012:E153K;ENSP00000308021:E153K	ENSP00000308021:E153K	E	-	1	0	CEP290	87049111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.123000	0.71614	2.575000	0.86900	0.563000	0.77884	GAG	CEP290	-	NULL	ENSG00000198707		0.274	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	43	0	C	NM_025114		88524980	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	26.67	55	20	SNP	1.000	T	T	88524980	C	T	88524980	3	4	21	1	0	0	0	0	1	0	0	0	3260	835	29	3	7174	3	CEP290	12	88524980	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	18476276	88524980	45326915	296	5683											
ATP2B1	490	genome.wustl.edu	37	chr12	90010583	90010583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgtttcaccacctcaGgtctcacaggatcttcaatc	11	11	6	13	0	5	1	4	0	2	1	7	2	5	2	2	2	0	1	2	2	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:90010583G>T	ENST00000428670.3	-	12	2519	c.2063C>A	c.(2062-2064)cCt>cAt	p.P688H	ATP2B1_ENST00000348959.3_Missense_Mutation_p.P688H|ATP2B1_ENST00000393164.2_Missense_Mutation_p.P431H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.P688H|ATP2B1_ENST00000359142.3_Missense_Mutation_p.P688H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	688					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CACCACCTCAGGTCTCACAGG	0.428																																																	0													106	101	102					12																	90010583		2203	4300	6503	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2063C>A	12.37:g.90010583G>T	ENSP00000392043:p.Pro688His		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.P688H	ENST00000428670.3	37	c.2063	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930771	0.92389	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.98769	4.325	0.80722	D	1	D;P;P	0.89917	1.0;0.809;0.796	D;P;B	0.91635	0.999;0.515;0.434	D	0.98609	1.0662	10	0.87932	D	0	-28.8317	19.8788	0.96888	0.0:0.0:1.0:0.0	.	688;688;688	P20020-3;P20020-2;P20020-6	.;.;.	H	688;688;688;688;431	ENSP00000261173:P688H;ENSP00000343599:P688H;ENSP00000352054:P688H;ENSP00000392043:P688H;ENSP00000376869:P431H	ENSP00000261173:P688H	P	-	2	0	ATP2B1	88534714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.708000	0.92522	0.650000	0.86243	CCT	ATP2B1	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000070961		0.428	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1		0	31	0	G	NM_001682		90010583	-1			no_errors	ENST00000261173	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	90010583	G	T	90010583	3	4	21	1	0	0	0	0	1	0	0	0	1140	1000	35	3	1797	3	ATP2B1	12	90010583	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1485603	90010583	43841312	297	5684											
VEZT	55591	genome.wustl.edu	37	chr12	95656735	95656735	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcaacaggaagtcctGttacaagaggatgtggagct	12	9	12	8	0	0	1	0	0	0	1	2	4	2	4	2	3	4	3	2	3	4	1	rs576048583		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:95656735G>T	ENST00000436874.1	+	4	417	c.312G>T	c.(310-312)ctG>ctT	p.L104L	VEZT_ENST00000261219.6_Silent_p.L56L|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	104					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGGAAGTCCTGTTACAAGAGG	0.418																																																	0																																										SO:0001819	synonymous_variant	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.312G>T	12.37:g.95656735G>T			Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Silent	SNP	NULL	p.L104	ENST00000436874.1	37	c.312	CCDS44954.1	12																																																																																			VEZT	-	NULL	ENSG00000028203		0.418	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	-	0	62	0	G	NM_017599		95656735	1	tier1	-	no_errors	ENST00000436874	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	95656735	G	T	95656735	2	4	21	1	0	0	0	0	0	0	0	1	17205	1364	48	3		3	VEZT	12	95656735	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5646152	95656735	38195160	298	5685											
GAS2L3	283431	genome.wustl.edu	37	chr12	100994180	100994180	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggtttggagaagatctGcctctaagtcctcggagtcc	8	12	12	9	1	2	2	0	0	2	2	5	4	4	3	3	3	1	2	3	3	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:100994180G>T	ENST00000539410.1	+	3	425	c.39G>T	c.(37-39)ctG>ctT	p.L13L	GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000547754.1_Silent_p.L13L|GAS2L3_ENST00000266754.5_Silent_p.L13L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	13					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GAGAAGATCTGCCTCTAAGTC	0.398																																																	0													109	105	106					12																	100994180		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.39G>T	12.37:g.100994180G>T			B2RCN2	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.L13	ENST00000539410.1	37	c.39	CCDS9079.1	12																																																																																			GAS2L3	-	NULL	ENSG00000139354		0.398	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1		0	27	0	G	NM_174942		100994180	1			no_errors	ENST00000266754	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.939	T	T	100994180	G	T	100994180	2	4	21	1	0	0	0	0	0	0	0	1	6273	1306	46	3		3	GAS2L3	12	100994180	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5337445	100994180	32857715	299	5686											
STAB2	55576	genome.wustl.edu	37	chr12	104156110	104156110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccatcatcctggtgactgGggctgttgccttggctgctt	3	14	13	11	0	1	1	1	1	0	0	2	1	2	1	3	4	3	4	3	4	0	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:104156110G>T	ENST00000388887.2	+	67	7622	c.7418G>T	c.(7417-7419)gGg>gTg	p.G2473V	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CTGGTGACTGGGGCTGTTGCC	0.478																																																	0													143	128	133					12																	104156110		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.7418G>T	12.37:g.104156110G>T	ENSP00000373539:p.Gly2473Val			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G2473V	ENST00000388887.2	37	c.7418	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829391	0.50845	.	.	ENSG00000136011	ENST00000388887	T	0.67171	-0.25	5.25	4.34	0.51931	.	0.144413	0.45126	D	0.000390	T	0.80954	0.4723	M	0.74258	2.255	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.81790	-0.0771	10	0.45353	T	0.12	.	15.6735	0.77297	0.0:0.1376:0.8624:0.0	.	2473	Q8WWQ8	STAB2_HUMAN	V	2473	ENSP00000373539:G2473V	ENSP00000373539:G2473V	G	+	2	0	STAB2	102680240	1.000000	0.71417	0.026000	0.17262	0.003000	0.03518	3.893000	0.56243	1.178000	0.42870	0.561000	0.74099	GGG	STAB2	-	NULL	ENSG00000136011		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1		0	84	0	G			104156110	1			no_errors	ENST00000388887	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.724	T	T	104156110	G	T	104156110	3	4	21	1	0	0	0	0	1	0	0	0	15285	1232	43	3	7684	3	STAB2	12	104156110	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3161930	104156110	29695785	300	5687											
CRY1	1407	genome.wustl.edu	37	chr12	107391315	107391315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatctgtttcatcctttcGatattcaaacggcttgcctc	8	16	6	11	2	3	1	2	0	1	1	6	2	4	1	2	1	2	2	2	1	3	6	rs368170196		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:107391315G>T	ENST00000008527.5	-	9	2310	c.1443C>A	c.(1441-1443)atC>atA	p.I481I		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	481	Interaction with TIMELESS. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCATCCTTTCGATATTCAAAC	0.393																																																	0													120	114	116					12																	107391315		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"cryptochrome 1 (photolyase-like)"	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1443C>A	12.37:g.107391315G>T				Silent	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.I481	ENST00000008527.5	37	c.1443	CCDS9112.1	12																																																																																			CRY1	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000008405		0.393	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1		0	47	0	G	NM_004075		107391315	-1			no_errors	ENST00000008527	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.997	T	T	107391315	G	T	107391315	2	4	21	1	0	0	0	0	0	0	0	1	3910	1048	37	2		2	CRY1	12	107391315	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3235205	107391315	26460580	301	5688											
ACACB	32	genome.wustl.edu	37	chr12	109673410	109673410	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtggatttctttttgcaGaaagaatttcccaagttttt	9	19	8	5	0	1	2	0	0	1	2	2	3	2	3	1	1	1	2	1	1	3	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:109673410G>A	ENST00000338432.7	+	33	4523		c.e33-1		ACACB_ENST00000543201.1_Splice_Site|ACACB_ENST00000377848.3_Splice_Site|ACACB_ENST00000377854.5_Splice_Site			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta						acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCTTTTTGCAGAAAGAATTTC	0.323																																																	0													141	127	132					12																	109673410		2203	4300	6503	SO:0001630	splice_region_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4405-1G>A	12.37:g.109673410G>A			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Splice_Site	SNP	-	e32-1	ENST00000338432.7	37	c.4405-1	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072932	0.76415	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8809	0.92356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACACB	108157793	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.772000	0.98984	2.546000	0.85860	0.609000	0.83330	.	ACACB	-	-	ENSG00000076555		0.323	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	88	0	G	NM_001093	Intron	109673410	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	splice_site	8.89	82	8	SNP	1.000	A	A	109673410	G	A	109673410	5	1	21	1	0	0	0	0	0	0	1	0	107	956	33	3	4530	3	ACACB	12	109673410	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2282095	109673410	24178485	302	5689											
OAS1	4938	genome.wustl.edu	37	chr12	113346558	113346558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaacccccgtgcgctcaGcttcgtactgagttcgctcc	5	9	11	16	4	1	1	1	1	0	0	4	1	2	1	3	1	4	6	3	1	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:113346558G>T	ENST00000202917.5	+	2	661	c.398G>T	c.(397-399)aGc>aTc	p.S133I	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Missense_Mutation_p.S133I|OAS1_ENST00000452357.2_Missense_Mutation_p.S133I|OAS1_ENST00000445409.2_Missense_Mutation_p.S133I|OAS1_ENST00000551241.1_Missense_Mutation_p.S133I	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	133					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CGTGCGCTCAGCTTCGTACTG	0.577																																																	0													85	80	81					12																	113346558		2203	4300	6503	SO:0001583	missense	0			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"2',5'-oligoadenylate synthetase 1 (40-46 kD)"	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.398G>T	12.37:g.113346558G>T	ENSP00000202917:p.Ser133Ile		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.S133I	ENST00000202917.5	37	c.398	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617907	0.66787	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01	4.31	4.31	0.51392	.	0.539176	0.18034	N	0.153827	T	0.38799	0.1054	M	0.90650	3.135	0.32222	N	0.575104	D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.997;0.999;0.997	D;D;D;D;D;P	0.79108	0.974;0.936;0.992;0.927;0.967;0.894	T	0.55321	-0.8159	10	0.87932	D	0	-36.4445	12.456	0.55704	0.0:0.0:1.0:0.0	.	133;133;133;133;133;133	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	I	133;133;133;133;133;133;133;129	ENSP00000202917:S133I;ENSP00000388001:S133I;ENSP00000415721:S133I;ENSP00000448790:S133I;ENSP00000448001:S133I;ENSP00000448348:S129I	ENSP00000202917:S133I	S	+	2	0	OAS1	111830941	1.000000	0.71417	0.933000	0.37362	0.053000	0.15095	2.614000	0.46359	2.420000	0.82092	0.455000	0.32223	AGC	OAS1	-	NULL	ENSG00000089127		0.577	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	-	0	26	0	G			113346558	1	tier1	-	no_errors	ENST00000445409	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.980	T	T	113346558	G	T	113346558	3	4	21	1	0	0	0	0	1	0	0	0	10838	971	34	3	404	3	OAS1	12	113346558	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3673148	113346558	20505337	303	5690											
OAS3	4940	genome.wustl.edu	37	chr12	113385763	113385763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgcaggcctgtgatcctGgacccagctgaccccacatg	9	8	10	14	0	0	2	0	2	0	0	1	3	1	3	5	2	2	2	5	2	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:113385763G>A	ENST00000228928.7	+	5	1067	c.888G>A	c.(886-888)ctG>ctA	p.L296L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	296	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTGTGATCCTGGACCCAGCTG	0.562																																																	0													31	31	31					12																	113385763		2007	4191	6198	SO:0001819	synonymous_variant	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.888G>A	12.37:g.113385763G>A			Q2HJ14|Q9H3P5	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.L296	ENST00000228928.7	37	c.888	CCDS44981.1	12																																																																																			OAS3	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111331		0.562	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	-	0	31	0	G			113385763	1	tier1	-	no_errors	ENST00000228928	ensembl	human	known	74_37	silent	15.79	16	3	SNP	1.000	A	A	113385763	G	A	113385763	2	1	21	1	0	0	0	0	0	0	0	1	10840	1335	47	3		3	OAS3	12	113385763	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	39205	113385763	20466132	304	5691											
FBXW8	26259	genome.wustl.edu	37	chr12	117461965	117461965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagggtgaggatccacGacctccgcagtggtaacatc	9	8	12	12	2	0	1	0	1	0	0	4	3	3	2	4	3	1	2	4	3	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:117461965G>T	ENST00000309909.5	+	9	1463	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y	FBXW8_ENST00000455858.2_Missense_Mutation_p.D395Y			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	461					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GAGGATCCACGACCTCCGCAG	0.577																																																	0													101	84	90					12																	117461965		2203	4300	6503	SO:0001583	missense	0			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"F-boxes / WD-40 domains", "WD repeat domain containing"	13597	protein-coding gene	gene with protein product		609073	"F-box only protein 29", "F-box and WD-40 domain protein 8"	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1381G>T	12.37:g.117461965G>T	ENSP00000310686:p.Asp461Tyr		Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D461Y	ENST00000309909.5	37	c.1381	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536578	0.65085	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.13538	2.58;2.58	5.61	5.61	0.85477	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.045370	0.85682	D	0.000000	T	0.42426	0.1202	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.26155	-1.0111	10	0.87932	D	0	-34.3959	19.5968	0.95544	0.0:0.0:1.0:0.0	.	461;395	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	Y	461;395;395	ENSP00000310686:D461Y;ENSP00000389144:D395Y	ENSP00000310686:D461Y	D	+	1	0	FBXW8	115946348	1.000000	0.71417	0.992000	0.48379	0.233000	0.25261	8.300000	0.89948	2.793000	0.96121	0.655000	0.94253	GAC	FBXW8	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000174989		0.577	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	-	0	98	0	G	NM_012174		117461965	1	tier1	-	no_errors	ENST00000309909	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	T	T	117461965	G	T	117461965	3	4	21	1	0	0	0	0	1	0	0	0	5792	1058	37	2	1415	2	FBXW8	12	117461965	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4076202	117461965	16389930	305	5692											
KDM2B	84678	genome.wustl.edu	37	chr12	121878953	121878953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagggagacgggctgtcgcCggatgatgccactcagcatc	8	6	15	12	4	1	2	1	1	0	1	3	5	1	3	2	3	2	2	2	3	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:121878953C>T	ENST00000377071.4	-	20	3440	c.3368G>A	c.(3367-3369)cGg>cAg	p.R1123Q	KDM2B_ENST00000377069.4_Missense_Mutation_p.R1054Q|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R491Q	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1123					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGGCTGTCGCCGGATGATGCC	0.622																																																	0													56	62	60					12																	121878953		2078	4216	6294	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3368G>A	12.37:g.121878953C>T	ENSP00000366271:p.Arg1123Gln		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R1123Q	ENST00000377071.4	37	c.3368	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.369375	0.95900	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.34472	1.36;1.36;1.36	6.05	4.15	0.48705	.	0.473298	0.17875	N	0.159068	T	0.63319	0.2501	M	0.83483	2.645	0.80722	D	1	P;D;D;B	0.89917	0.693;0.996;1.0;0.212	B;P;D;B	0.79108	0.253;0.575;0.992;0.07	T	0.66468	-0.5916	10	0.54805	T	0.06	-28.3911	15.1839	0.72982	0.2577:0.7423:0.0:0.0	.	563;1123;1054;566	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	Q	1111;491;1054;1123;566;1126	ENSP00000437821:R491Q;ENSP00000366269:R1054Q;ENSP00000366271:R1123Q	ENSP00000261824:R1126Q	R	-	2	0	KDM2B	120363336	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.902000	0.63266	0.806000	0.34183	0.643000	0.83706	CGG	KDM2B	-	NULL	ENSG00000089094		0.622	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	-	0	20	0	C	NM_032590		121878953	-1	tier1	-	no_errors	ENST00000377071	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T	T	121878953	C	T	121878953	3	4	21	1	0	0	0	0	1	0	0	0	8152	652	23	1	710	1	KDM2B	12	121878953	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	4416988	121878953	11972942	306	5693											
PSMD9	5715	genome.wustl.edu	37	chr12	122326826	122326826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgtcgtgactgtcagcGacgtccaggagctgatgcgg	6	7	16	12	6	1	2	1	2	0	0	3	4	2	3	2	3	3	1	2	3	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:122326826G>T	ENST00000541212.1	+	1	190	c.64G>T	c.(64-66)Gac>Tac	p.D22Y	RP11-87C12.2_ENST00000546333.1_Missense_Mutation_p.D22Y|PSMD9_ENST00000542602.1_Missense_Mutation_p.D22Y|PSMD9_ENST00000261817.2_Missense_Mutation_p.D22Y|PSMD9_ENST00000340175.5_Missense_Mutation_p.D22Y			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GACTGTCAGCGACGTCCAGGA	0.657											OREG0022209	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	22	26					12																	122326826		2198	4298	6496	SO:0001583	missense	0			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.64G>T	12.37:g.122326826G>T	ENSP00000440485:p.Asp22Tyr	1518	B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.D22Y	ENST00000541212.1	37	c.64	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761462	0.69763	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613;ENST00000542602	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	4.72	3.83	0.44106	.	0.045750	0.85682	D	0.000000	T	0.40094	0.1103	L	0.57536	1.79	0.54753	D	0.999986	D;D	0.89917	0.999;1.0	D;D	0.71656	0.974;0.971	T	0.24048	-1.0171	10	0.56958	D	0.05	-43.816	12.8522	0.57864	0.0:0.0:0.8371:0.1629	.	22;22	F8W7V8;O00233	.;PSMD9_HUMAN	Y	22	ENSP00000440485:D22Y;ENSP00000340847:D22Y;ENSP00000261817:D22Y;ENSP00000443081:D22Y;ENSP00000443772:D22Y	ENSP00000261817:D22Y	D	+	1	0	RP11-87C12.2;PSMD9	120811209	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	1.544000	0.36158	1.332000	0.45431	0.561000	0.74099	GAC	PSMD9	-	NULL	ENSG00000110801		0.657	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1		0	38	0	G	NM_002813		122326826	1			no_errors	ENST00000541212	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	122326826	G	T	122326826	3	4	21	1	0	0	0	0	1	0	0	0	12747	1058	37	2	66	2	PSMD9	12	122326826	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	447873	122326826	11525069	307	5694											
DNAH10	196385	genome.wustl.edu	37	chr12	124298415	124298415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatggaactcagatataggGacgtccaggagcgataccgt	12	8	12	9	3	2	1	2	0	0	1	3	5	3	4	2	3	3	0	2	3	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:124298415G>T	ENST00000409039.3	+	20	3407	c.3382G>T	c.(3382-3384)Gac>Tac	p.D1128Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1128	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATATAGGGACGTCCAGGA	0.393																																																	0													77	74	75					12																	124298415		1979	4187	6166	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3382G>T	12.37:g.124298415G>T	ENSP00000386770:p.Asp1128Tyr		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.D1128Y	ENST00000409039.3	37	c.3382	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945009	0.73672	.	.	ENSG00000197653	ENST00000409039	T	0.22539	1.95	5.72	5.72	0.89469	.	.	.	.	.	T	0.50411	0.1614	M	0.83483	2.645	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.54214	-0.8327	9	0.72032	D	0.01	.	19.8751	0.96867	0.0:0.0:1.0:0.0	.	1128	Q8IVF4	DYH10_HUMAN	Y	1128	ENSP00000386770:D1128Y	ENSP00000386770:D1128Y	D	+	1	0	DNAH10	122864368	1.000000	0.71417	0.980000	0.43619	0.320000	0.28249	9.609000	0.98334	2.695000	0.91970	0.655000	0.94253	GAC	DNAH10	-	NULL	ENSG00000197653		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	56	0	G			124298415	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	124298415	G	T	124298415	3	4	21	1	0	0	0	0	1	0	0	0	4612	1174	41	3	3460	3	DNAH10	12	124298415	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1971589	124298415	9553480	308	5695											
DDX51	317781	genome.wustl.edu	37	chr12	132625429	132625429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccccgtccccatctgtatCttccaggcccctgtgtgcta	5	12	7	17	1	2	0	0	0	2	0	5	0	5	0	7	1	1	2	7	1	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr12:132625429C>T	ENST00000397333.3	-	9	1425	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	463					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCATCTGTATCTTCCAGGCCC	0.607																																																	0													97	105	102					12																	132625429		1910	4117	6027	SO:0001583	missense	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1387G>A	12.37:g.132625429C>T	ENSP00000380495:p.Asp463Asn		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D463N	ENST00000397333.3	37	c.1387	CCDS41865.1	12	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554077	0.27739	.	.	ENSG00000185163	ENST00000397333	T	0.02085	4.46	4.83	2.97	0.34412	DEAD-like helicase (1);	1.342410	0.04618	N	0.401490	T	0.04634	0.0126	M	0.73962	2.25	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.48625	-0.9019	10	0.33141	T	0.24	-11.2003	5.2034	0.15277	0.0:0.6453:0.1705:0.1843	.	463	Q8N8A6	DDX51_HUMAN	N	463	ENSP00000380495:D463N	ENSP00000380495:D463N	D	-	1	0	DDX51	131191382	0.004000	0.15560	0.002000	0.10522	0.033000	0.12548	1.499000	0.35671	0.455000	0.26910	-0.698000	0.03680	GAT	DDX51	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd	ENSG00000185163		0.607	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1	-	0	39	0	C	NM_175066		132625429	-1	tier1	-	no_errors	ENST00000397333	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.004	T	T	132625429	C	T	132625429	3	4	21	1	0	0	0	0	1	0	0	0	4378	913	32	3	641	3	DDX51	12	132625429	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	8327014	132625429	1226466	309	5696											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20235848	20235848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaacacaggattccagtgGaatgacactggtgatgcttg	12	9	11	9	0	0	2	0	2	0	0	1	4	1	4	2	3	2	1	2	3	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:20235848G>T	ENST00000361479.5	+	8	1870	c.1802G>T	c.(1801-1803)gGa>gTa	p.G601V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.G601V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	601					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GATTCCAGTGGAATGACACTG	0.483																																																	0													142	152	149					13																	20235848		2203	4300	6503	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1802G>T	13.37:g.20235848G>T	ENSP00000355388:p.Gly601Val		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.G601V	ENST00000361479.5	37	c.1802	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986481	0.93044	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.78816	-1.21;-1.21	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	0.104769	0.64402	D	0.000003	D	0.91841	0.7418	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92794	0.6251	10	0.87932	D	0	.	20.2672	0.98462	0.0:0.0:1.0:0.0	.	601;601	Q99549;Q99549-2	MPP8_HUMAN;.	V	601	ENSP00000414663:G601V;ENSP00000355388:G601V	ENSP00000355388:G601V	G	+	2	0	MPHOSPH8	19133848	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.128000	0.94424	2.894000	0.99253	0.591000	0.81541	GGA	MPHOSPH8	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000196199		0.483	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0	52	0	G	NM_017520		20235848	1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	20235848	G	T	20235848	3	4	21	1	0	0	0	0	1	0	0	0	9765	1174	41	3	1832	3	MPHOSPH8	13	20235848	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		20235848	94934030	310	5697											
ZDHHC20	253832	genome.wustl.edu	37	chr13	21975811	21975811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggacagtgatgatccaTcttaagaatacatctaggaa	16	9	8	8	0	2	3	0	2	2	1	3	5	3	5	2	2	1	0	2	2	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:21975811T>C	ENST00000400590.3	-	6	652	c.454A>G	c.(454-456)Atg>Gtg	p.M152V	ZDHHC20_ENST00000320220.9_Missense_Mutation_p.M152V|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.M152V|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.M89V|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.M152V|ZDHHC20_ENST00000494731.1_5'UTR			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	152					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TGATGATCCATCTTAAGAATA	0.289																																																	0																																										SO:0001583	missense	0			AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"Zinc fingers, DHHC-type"	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.454A>G	13.37:g.21975811T>C	ENSP00000383433:p.Met152Val		A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.M152V	ENST00000400590.3	37	c.454		13	.	.	.	.	.	.	.	.	.	.	T	22.2	4.251461	0.80135	.	.	ENSG00000180776	ENST00000400590;ENST00000320220;ENST00000382466;ENST00000542645;ENST00000415724	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	H	0.98333	4.205	0.80722	D	1	P;B	0.44344	0.833;0.085	P;P	0.52386	0.697;0.571	T	0.77525	-0.2555	10	0.87932	D	0	-9.767	15.806	0.78513	0.0:0.0:0.0:1.0	.	89;152	B4DRN8;Q5W0Z9-3	.;.	V	152;152;152;89;152	ENSP00000383433:M152V;ENSP00000313583:M152V;ENSP00000371905:M152V;ENSP00000443236:M89V;ENSP00000401232:M152V	ENSP00000313583:M152V	M	-	1	0	ZDHHC20	20873811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.567000	0.82357	2.135000	0.66039	0.528000	0.53228	ATG	ZDHHC20	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000180776		0.289	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZDHHC20	HGNC	protein_coding	OTTHUMT00000045994.1	-	0	59	0	T	NM_153251		21975811	-1	tier1	-	no_errors	ENST00000400590	ensembl	human	known	74_37	missense	18.42	62	14	SNP	1.000	C	C	21975811	T	C	21975811	3	2	21	1	0	0	0	0	1	0	0	0	17659	1435	50	4	638	4	ZDHHC20	13	21975811	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	1739963	21975811	93194067	311	5698											
LNX2	222484	genome.wustl.edu	37	chr13	28122482	28122482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaaatctatacaaggCtgccaggccaacaaataacg	16	8	6	11	1	1	0	0	0	1	0	2	0	2	0	3	2	4	1	3	2	8	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:28122482C>T	ENST00000316334.3	-	10	2192	c.2063G>A	c.(2062-2064)aGc>aAc	p.S688N		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	688	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CTATACAAGGCTGCCAGGCCA	0.423																																																	0													81	69	73					13																	28122482		2203	4300	6503	SO:0001583	missense	0			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.2063G>A	13.37:g.28122482C>T	ENSP00000325929:p.Ser688Asn		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.S688N	ENST00000316334.3	37	c.2063	CCDS9323.1	13	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816072	0.90790	.	.	ENSG00000139517	ENST00000316334	T	0.08984	3.03	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	M	0.68952	2.095	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	T	0.00143	-1.1996	10	0.87932	D	0	.	20.0362	0.97558	0.0:1.0:0.0:0.0	.	688	Q8N448	LNX2_HUMAN	N	688	ENSP00000325929:S688N	ENSP00000325929:S688N	S	-	2	0	LNX2	27020482	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.818000	0.86416	2.737000	0.93849	0.585000	0.79938	AGC	LNX2	-	NULL	ENSG00000139517		0.423	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	-	0	26	0	C			28122482	-1	tier1	-	no_errors	ENST00000316334	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	T	T	28122482	C	T	28122482	3	4	21	1	0	0	0	0	1	0	0	0	8896	797	28	3	13	3	LNX2	13	28122482	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	6146671	28122482	87047396	312	5699											
STARD13	90627	genome.wustl.edu	37	chr13	33692207	33692207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatttccacttacactgaTagatatggagaaaggtctca	14	13	7	7	0	1	3	1	1	1	2	3	4	2	3	1	2	1	0	1	2	5	5	rs553359255		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:33692207T>C	ENST00000336934.5	-	8	2392	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	STARD13_ENST00000255486.4_Missense_Mutation_p.Y751C|STARD13_ENST00000399365.3_Missense_Mutation_p.Y641C	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	759	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTTACACTGATAGATATGGAG	0.403													T|||	1	0.000199681	0	0.0014	5008	,	,		19436	0		0	False		,,,				2504	0																0													115	119	118					13																	33692207		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2276A>G	13.37:g.33692207T>C	ENSP00000338785:p.Tyr759Cys		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.Y759C	ENST00000336934.5	37	c.2276	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233188	0.79688	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.11821	2.74;2.74;2.74	5.2	5.2	0.72013	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.59967	1.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;1.0;0.961	T	0.03121	-1.1070	10	0.54805	T	0.06	.	15.3518	0.74396	0.0:0.0:0.0:1.0	.	724;759;751	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	C	641;751;759	ENSP00000382300:Y641C;ENSP00000255486:Y751C;ENSP00000338785:Y759C	ENSP00000255486:Y751C	Y	-	2	0	STARD13	32590207	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	7.840000	0.86819	2.098000	0.63641	0.472000	0.43445	TAT	STARD13	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000133121		0.403	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	53	0	T	NM_001243466		33692207	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	C	C	33692207	T	C	33692207	3	2	21	1	0	0	0	0	1	0	0	0	15303	1406	49	4	1093	4	STARD13	13	33692207	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	5569725	33692207	81477671	313	5700											
STARD13	90627	genome.wustl.edu	37	chr13	33692350	33692350	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaagttttcattcatttgGcgaagggcatggattcgaga	10	12	14	5	2	2	1	2	0	0	1	3	5	2	3	0	4	0	2	0	4	2	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:33692350G>T	ENST00000336934.5	-	8	2249	c.2133C>A	c.(2131-2133)cgC>cgA	p.R711R	STARD13_ENST00000255486.4_Silent_p.R703R|STARD13_ENST00000399365.3_Silent_p.R593R	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	711	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CATTCATTTGGCGAAGGGCAT	0.493																																																	0													154	149	151					13																	33692350		2203	4300	6503	SO:0001819	synonymous_variant	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2133C>A	13.37:g.33692350G>T			A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R711	ENST00000336934.5	37	c.2133	CCDS9348.1	13																																																																																			STARD13	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000133121		0.493	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	65	0	G	NM_001243466		33692350	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.977	T	T	33692350	G	T	33692350	2	4	21	1	0	0	0	0	0	0	0	1	15303	1190	42	3		3	STARD13	13	33692350	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	143	33692350	81477528	314	5701											
SOHLH2	54937	genome.wustl.edu	37	chr13	36744698	36744698	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgtgtagtgcacgtctgGcccaacccagaagtgcagtg	9	8	14	10	1	1	1	0	0	1	1	1	2	1	2	2	2	3	3	2	2	3	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:36744698G>T	ENST00000379881.3	-	10	1315	c.1227C>A	c.(1225-1227)ggC>ggA	p.G409G	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.G486G|SOHLH2_ENST00000554962.1_Silent_p.G486G	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	409					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGCACGTCTGGCCCAACCCAG	0.517																																																	0													77	64	68					13																	36744698		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1227C>A	13.37:g.36744698G>T			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G486	ENST00000379881.3	37	c.1458	CCDS9355.1	13																																																																																			CCDC169-SOHLH2	-	NULL	ENSG00000250709		0.517	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	-	0	34	0	G	NM_017826		36744698	-1	tier1	-	no_errors	ENST00000511166	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.569	T	T	36744698	G	T	36744698	2	4	21	1	0	0	0	0	0	0	0	1	14969	1190	42	3		3	SOHLH2	13	36744698	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3052348	36744698	78425180	315	5702											
DIS3	22894	genome.wustl.edu	37	chr13	73335787	73335787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgacaaaaggcaaatacctgGgtatgaaaagccactgatgc	16	6	10	9	1	0	2	0	2	0	0	0	3	0	2	2	2	3	2	2	2	7	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:73335787G>T	ENST00000377767.4	-	18	2608	c.2508C>A	c.(2506-2508)acC>acA	p.T836T	DIS3_ENST00000377780.4_Silent_p.T806T|DIS3_ENST00000545453.1_Silent_p.T674T	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	836					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CAAATACCTGGGTATGAAAAG	0.303										Multiple Myeloma(4;0.011)																																							0													123	115	118					13																	73335787		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2508C>A	13.37:g.73335787G>T			A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Silent	SNP	smart_PIN_dom	p.T836	ENST00000377767.4	37	c.2508	CCDS9447.1	13																																																																																			DIS3	-	NULL	ENSG00000083520		0.303	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	-	0	60	0	G	NM_014953		73335787	-1	tier1	-	no_errors	ENST00000377767	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.674	T	T	73335787	G	T	73335787	2	4	21	1	0	0	0	0	0	0	0	1	4549	1219	43	3		3	DIS3	13	73335787	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	36591089	73335787	41834091	316	5703											
COL4A2	1284	genome.wustl.edu	37	chr13	111102088	111102088	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaagccagggtgagccaGgagacccgggcctcccaggt	9	3	16	13	1	0	2	0	1	0	1	1	4	1	3	5	5	2	0	5	5	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:111102088G>T	ENST00000360467.5	+	19	1447	c.1141G>T	c.(1141-1143)Gga>Tga	p.G381*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	381	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGTGAGCCAGGAGACCCGGG	0.607																																																	0													16	18	18					13																	111102088		1460	3180	4640	SO:0001587	stop_gained	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1141G>T	13.37:g.111102088G>T	ENSP00000353654:p.Gly381*		Q14052|Q548C3|Q5VZA9|Q66K23	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G381*	ENST00000360467.5	37	c.1141	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.821244	0.98507	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	.	.	.	5.13	5.13	0.70059	.	0.000000	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.1003	0.65051	0.0:0.0:1.0:0.0	.	.	.	.	X	381	.	ENSP00000257309:G381X	G	+	1	0	COL4A2	109900089	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	5.109000	0.64615	2.387000	0.81309	0.563000	0.77884	GGA	COL4A2	-	NULL	ENSG00000134871		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	-	0	28	0	G	NM_001846		111102088	1	tier1	-	no_errors	ENST00000360467	ensembl	human	known	74_37	nonsense	10.81	33	4	SNP	1.000	T	T	111102088	G	T	111102088	4	4	21	1	0	0	0	0	0	1	0	0	3697	1001	35	3	1211	3	COL4A2	13	111102088	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	37766301	111102088	4067790	317	5704											
ADPRHL1	113622	genome.wustl.edu	37	chr13	114098801	114098801	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctttagctgagcacaGccttcaatggtagctgggtc	7	12	13	9	0	1	1	1	1	0	0	2	1	1	1	1	3	4	5	1	3	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr13:114098801G>T	ENST00000375418.3	-	2	404	c.318C>A	c.(316-318)ggC>ggA	p.G106G	ADPRHL1_ENST00000356501.4_Silent_p.G24G	NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	106					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCTGAGCACAGCCTTCAATGG	0.532																																																	0													234	214	221					13																	114098801		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.318C>A	13.37:g.114098801G>T			Q5JUG2|Q96GD1	Silent	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.G106	ENST00000375418.3	37	c.318	CCDS9535.1	13																																																																																			ADPRHL1	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000153531		0.532	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL1	HGNC	protein_coding	OTTHUMT00000045915.2	-	0	55	0	G	NM_138430		114098801	-1	tier1	-	no_errors	ENST00000375418	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	114098801	G	T	114098801	2	4	21	1	0	0	0	0	0	0	0	1	332	958	34	3		3	ADPRHL1	13	114098801	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2996713	114098801	1071077	318	5705											
MBIP	51562	genome.wustl.edu	37	chr14	36785950	36785950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaaagagcaatgcaggctgGaatgccgagaggctctggag	12	6	15	8	1	1	2	0	0	1	2	1	5	1	4	1	4	3	4	1	4	4	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:36785950G>T	ENST00000416007.4	-	2	285	c.198C>A	c.(196-198)ttC>ttA	p.F66L	MBIP_ENST00000359527.7_Missense_Mutation_p.F66L|MBIP_ENST00000603913.1_5'Flank|MBIP_ENST00000318473.7_Missense_Mutation_p.F66L	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	66					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ATGCAGGCTGGAATGCCGAGA	0.383																																																	0													84	79	81					14																	36785950		2203	4299	6502	SO:0001583	missense	0			BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.198C>A	14.37:g.36785950G>T	ENSP00000399718:p.Phe66Leu		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	NULL	p.F66L	ENST00000416007.4	37	c.198	CCDS9658.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.488|3.488	-0.104499|-0.104499	0.06967|0.06967	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553549;ENST00000556427|ENST00000553977	T;T;T|.	0.35236|.	1.32;1.32;1.32|.	5.17|5.17	4.25|4.25	0.50352|0.50352	.|.	0.656465|.	0.16745|.	N|.	0.201286|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.02916|0.02916	-0.46|-0.46	0.24098|0.24098	N|N	0.995881|0.995881	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.0;0.001;0.0|.	T|T	0.20140|0.20140	-1.0284|-1.0284	10|5	0.02654|.	T|.	1|.	-2.4148|-2.4148	6.7962|6.7962	0.23727|0.23727	0.1131:0.4165:0.4704:0.0|0.1131:0.4165:0.4704:0.0	.|.	66;66;66|.	Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;MBIP1_HUMAN|.	L|T	66;66;66;66;45;24|63	ENSP00000399718:F66L;ENSP00000324444:F66L;ENSP00000352517:F66L|.	ENSP00000324444:F66L|.	F|P	-|-	3|1	2|0	MBIP|MBIP	35855701|35855701	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.957000|0.957000	0.29215|0.29215	1.217000|1.217000	0.43442|0.43442	0.585000|0.585000	0.79938|0.79938	TTC|CCA	MBIP	-	NULL	ENSG00000151332		0.383	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBIP	HGNC	protein_coding	OTTHUMT00000276685.2	-	0	35	0	G	NM_016586		36785950	-1	tier1	-	no_errors	ENST00000416007	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	36785950	G	T	36785950	3	4	21	1	0	0	0	0	1	0	0	0	9387	1165	41	3	868	3	MBIP	14	36785950	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		36785950	70563590	319	5706											
TRIM9	114088	genome.wustl.edu	37	chr14	51464729	51464729	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccactttagatgccacGcagttctcgctctgagggat	8	10	10	13	2	2	2	0	1	2	1	3	3	2	3	3	1	2	3	3	1	1	3	rs369002549		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:51464729G>T	ENST00000298355.3	-	7	2725				TRIM9_ENST00000360392.4_Missense_Mutation_p.R548S|TRIM9_ENST00000338969.5_Intron	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9						negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGATGCCACGCAGTTCTCGC	0.562																																																	0													69	57	61					14																	51464729		2203	4300	6503	SO:0001627	intron_variant	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1603+38C>A	14.37:g.51464729G>T			D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.R548S	ENST00000298355.3	37	c.1642	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299243	0.40694	.	.	ENSG00000100505	ENST00000360392	T	0.51071	0.72	6.06	4.99	0.66335	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.21553	N	0.999643	B	0.29253	0.239	B	0.28553	0.091	T	0.17198	-1.0377	8	0.56958	D	0.05	.	7.2833	0.26324	0.1256:0.1677:0.7068:0.0	.	548	Q9C026-5	.	S	548	ENSP00000353561:R548S	ENSP00000353561:R548S	R	-	1	0	TRIM9	50534479	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	3.461000	0.53035	2.882000	0.98803	0.655000	0.94253	CGT	TRIM9	-	NULL	ENSG00000100505		0.562	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1		0	42	0	G	NM_015163		51464729	-1			no_errors	ENST00000360392	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.994	T	T	51464729	G	T	51464729	1	4	21	0	1	0	0	0	0	0	0	0	16597	1087	38	2		2	TRIM9	14	51464729	Intron	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	14678779	51464729	55884811	320	5707											
KIAA0586	9786	genome.wustl.edu	37	chr14	58979346	58979346	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaccttcacagcaacaagGtaagacttgtttttatgtaa	13	13	7	8	0	1	1	1	0	0	1	1	1	1	1	1	1	3	5	1	1	5	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:58979346G>T	ENST00000556134.1	+	30	4658		c.e30+1		KIAA0586_ENST00000261244.5_Splice_Site|KIAA0586_ENST00000538571.2_Splice_Site|KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000423743.3_Splice_Site	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCAACAAGGTAAGACTTGT	0.313																																																	0													58	52	54					14																	58979346		1821	4072	5893	SO:0001630	splice_region_variant	0			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.4384+1G>T	14.37:g.58979346G>T			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	-	e29+1	ENST00000556134.1	37	c.4384+1	CCDS58321.1	14	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553634	0.65425	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000555397	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.942	0.64062	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0586	58049099	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.223000	0.58587	2.668000	0.90789	0.591000	0.81541	.	KIAA0586	-	-	ENSG00000100578		0.313	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1		0	47	0	G	NM_014749	Intron	58979346	1			no_errors	ENST00000556134	ensembl	human	known	74_37	splice_site	6.12	46	3	SNP	1.000	T	T	58979346	G	T	58979346	5	4	21	1	0	0	0	0	0	0	1	0	8213	1275	44	3	4312	3	KIAA0586	14	58979346	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	7514617	58979346	48370194	321	5708											
C14orf149	112849	genome.wustl.edu	37	chr14	59942614	59942614	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttccctgtgaatactgaGccagttgcactgcttttgaa	8	14	9	10	0	0	3	0	3	0	0	1	3	1	3	2	0	4	4	2	0	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:59942614G>T	ENST00000247194.4	-	4	1025	c.912C>A	c.(910-912)ggC>ggA	p.G304G	L3HYPDH_ENST00000543619.1_5'Flank|L3HYPDH_ENST00000487285.1_Silent_p.G133G	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	304					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	TGAATACTGAGCCAGTTGCAC	0.488																																																	0													87	83	85					14																	59942614		2203	4300	6503	SO:0001819	synonymous_variant	0			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"trans-L-3-hydroxyproline dehydratase"	614811	"chromosome 14 open reading frame 149"	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.912C>A	14.37:g.59942614G>T			Q96LJ5	Silent	SNP	pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam	p.G304	ENST00000247194.4	37	c.912	CCDS9739.1	14																																																																																			L3HYPDH	-	pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam	ENSG00000126790		0.488	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	L3HYPDH	HGNC	protein_coding	OTTHUMT00000072254.5	-	0	31	0	G	NM_144581		59942614	-1	tier1	-	no_errors	ENST00000247194	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	59942614	G	T	59942614	2	4	21	1	0	0	0	0	0	0	0	1	1757	958	34	3		3	C14orf149	14	59942614	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	963268	59942614	47406926	322	5709											
ADAM21	8747	genome.wustl.edu	37	chr14	70925471	70925471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggttgaaagagaagagCagtgtgactgtggatccgta	11	10	16	4	1	0	4	0	2	0	2	1	6	1	5	1	2	1	3	1	2	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:70925471C>G	ENST00000603540.1	+	2	1513	c.1255C>G	c.(1255-1257)Cag>Gag	p.Q419E	ADAM21_ENST00000267499.3_Missense_Mutation_p.Q419E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	419	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AAGAGAAGAGCAGTGTGACTG	0.498																																																	0													70	68	68					14																	70925471		2203	4300	6503	SO:0001583	missense	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1255C>G	14.37:g.70925471C>G	ENSP00000474385:p.Gln419Glu		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q419E	ENST00000603540.1	37	c.1255	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	C	0	-2.617198	0.00118	.	.	ENSG00000139985	ENST00000267499	T	0.09073	3.02	4.48	1.19	0.21007	Blood coagulation inhibitor, Disintegrin (4);	0.312344	0.21860	N	0.068042	T	0.02193	0.0068	N	0.01250	-0.93	0.24595	N	0.993805	B	0.10296	0.003	B	0.20184	0.028	T	0.47749	-0.9093	10	0.02654	T	1	.	9.0036	0.36097	0.1033:0.3999:0.4968:0.0	.	419	Q9UKJ8	ADA21_HUMAN	E	419	ENSP00000267499:Q419E	ENSP00000267499:Q419E	Q	+	1	0	ADAM21	69995224	0.008000	0.16893	0.968000	0.41197	0.175000	0.22909	-1.222000	0.02965	0.534000	0.28695	-0.357000	0.07601	CAG	ADAM21	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000139985		0.498	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3	-	0	108	0	C			70925471	1	tier1	-	no_errors	ENST00000267499	ensembl	human	known	74_37	missense	13.00	87	13	SNP	0.986	G	G	70925471	C	G	70925471	3	3	21	1	0	0	0	0	1	0	0	0	243	711	25	5	1257	5	ADAM21	14	70925471	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	10982857	70925471	36424069	323	5710											
ADAM20	8748	genome.wustl.edu	37	chr14	70991384	70991384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatactgggagggcctggCctgagagtggccagaaatag	12	6	16	7	0	0	2	0	1	0	2	0	5	0	3	3	4	1	0	3	4	4	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:70991384C>A	ENST00000256389.3	-	2	485	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	31					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGGGCCTGGCCTGAGAGTGG	0.537																																																	0													73	66	68					14																	70991384		2203	4300	6503	SO:0001583	missense	0			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.241G>T	14.37:g.70991384C>A	ENSP00000256389:p.Ala81Ser		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A81S	ENST00000256389.3	37	c.241	CCDS32111.1	14	.	.	.	.	.	.	.	.	.	.	C	9.064	0.995185	0.19043	.	.	ENSG00000134007	ENST00000256389	T	0.00912	5.55	4.04	0.00712	0.14070	.	.	.	.	.	T	0.00875	0.0029	L	0.46157	1.445	0.09310	N	1	B	0.20780	0.048	B	0.19946	0.027	T	0.48328	-0.9045	9	0.09084	T	0.74	.	3.9885	0.09527	0.1638:0.4657:0.0:0.3705	.	31	O43506	ADA20_HUMAN	S	81	ENSP00000256389:A81S	ENSP00000256389:A81S	A	-	1	0	ADAM20	70061137	0.000000	0.05858	0.443000	0.26883	0.136000	0.21042	-0.322000	0.08007	0.099000	0.17552	0.650000	0.86243	GCC	ADAM20	-	pfam_Peptidase_M12B_N	ENSG00000134007		0.537	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2		0	31	0	C			70991384	-1			no_errors	ENST00000256389	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.006	A	A	70991384	C	A	70991384	3	1	21	1	0	0	0	0	1	0	0	0	242	739	26	3	2093	3	ADAM20	14	70991384	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	65913	70991384	36358156	324	5711											
C14orf159	80017	genome.wustl.edu	37	chr14	91681831	91681831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccacagtcagtacctgagGaaagcagtcggaccctccag	11	6	11	13	1	1	1	1	1	0	0	4	3	3	3	4	2	2	2	4	2	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:91681831G>T	ENST00000523771.1	+	13	2235	c.1632G>T	c.(1630-1632)agG>agT	p.R544S	C14orf159_ENST00000523816.1_Missense_Mutation_p.R544S|C14orf159_ENST00000412671.2_Missense_Mutation_p.R549S|C14orf159_ENST00000521077.2_Missense_Mutation_p.R509S|C14orf159_ENST00000518868.1_Missense_Mutation_p.R549S|C14orf159_ENST00000522322.1_Missense_Mutation_p.R544S|C14orf159_ENST00000428926.2_Missense_Mutation_p.R544S|C14orf159_ENST00000256324.10_Missense_Mutation_p.R549S|C14orf159_ENST00000520328.1_Missense_Mutation_p.R492S|C14orf159_ENST00000525393.2_Missense_Mutation_p.R420S			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	544						mitochondrion (GO:0005739)		p.R544R(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		AGTACCTGAGGAAAGCAGTCG	0.577																																																	1	Substitution - coding silent(1)	skin(1)											102	91	95					14																	91681831		2203	4300	6503	SO:0001583	missense	0			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1632G>T	14.37:g.91681831G>T	ENSP00000429655:p.Arg544Ser		B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	pfam_DUF1445,pirsf_UPF0317_mt	p.R549S	ENST00000523771.1	37	c.1647	CCDS32141.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.982|7.982	0.751417|0.751417	0.15778|0.15778	.|.	.|.	ENSG00000133943|ENSG00000133943	ENST00000522816|ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	.|T;T;T;T;T;T;T;T;T;T	.|0.23348	.|1.94;2.52;1.91;2.52;2.52;2.31;2.52;2.52;2.52;2.52	5.34|5.34	2.53|2.53	0.30540|0.30540	.|.	.|0.586711	.|0.17891	.|N	.|0.158524	T|T	0.26048|0.26048	0.0635|0.0635	L|L	0.55743|0.55743	1.74|1.74	0.35775|0.35775	D|D	0.821197|0.821197	.|P;P;P;P;P	.|0.48089	.|0.905;0.72;0.884;0.902;0.884	.|B;P;B;B;B	.|0.44673	.|0.422;0.457;0.426;0.163;0.426	T|T	0.22068|0.22068	-1.0227|-1.0227	5|10	.|0.44086	.|T	.|0.13	.|.	8.191|8.191	0.31368|0.31368	0.2556:0.0:0.7443:0.0|0.2556:0.0:0.7443:0.0	.|.	.|544;420;492;549;509	.|Q7Z3D6;Q8NB88;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	.|CN159_HUMAN;.;.;.;.	V|S	145|492;549;509;549;544;420;544;544;544;549	.|ENSP00000429453:R492S;ENSP00000256324:R549S;ENSP00000430137:R509S;ENSP00000428263:R549S;ENSP00000428974:R544S;ENSP00000435459:R420S;ENSP00000404343:R544S;ENSP00000427953:R544S;ENSP00000429655:R544S;ENSP00000404196:R549S	.|ENSP00000256324:R549S	G|R	+|+	2|3	0|2	C14orf159|C14orf159	90751584|90751584	1.000000|1.000000	0.71417|0.71417	0.479000|0.479000	0.27329|0.27329	0.026000|0.026000	0.11368|0.11368	2.266000|2.266000	0.43320|0.43320	0.252000|0.252000	0.21531|0.21531	0.655000|0.655000	0.94253|0.94253	GGA|AGG	C14orf159	-	pirsf_UPF0317_mt	ENSG00000133943		0.577	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf159	HGNC	protein_coding	OTTHUMT00000381273.1		0	72	0	G	NM_024952		91681831	1			no_errors	ENST00000256324	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.970	T	T	91681831	G	T	91681831	3	4	21	1	0	0	0	0	1	0	0	0	1760	1165	41	3	1689	3	C14orf159	14	91681831	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	20690447	91681831	15667709	325	5712											
SERPINA1	5265	genome.wustl.edu	37	chr14	94847363	94847363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagcttcttacagtgCtggatgttaaacatgcctaa	11	12	9	9	0	1	0	0	0	1	0	1	2	1	2	1	2	5	3	1	2	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:94847363C>G	ENST00000448921.1	-	5	1334	c.762G>C	c.(760-762)caG>caC	p.Q254H	SERPINA1_ENST00000404814.4_Missense_Mutation_p.Q254H|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Q254H|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Q254H|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Q254H|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Q254H|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Q254H|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Q254H|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Q254H	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	254					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCTTACAGTGCTGGATGTTAA	0.532																																																	0													128	100	109					14																	94847363		2203	4300	6503	SO:0001583	missense	0			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.762G>C	14.37:g.94847363C>G	ENSP00000416066:p.Gln254His		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Q254H	ENST00000448921.1	37	c.762	CCDS9925.1	14	.	.	.	.	.	.	.	.	.	.	C	0.565	-0.843444	0.02671	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629	D;D;D;D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.05	-6.84	0.01687	Serpin domain (3);	2.595080	0.00868	N	0.001994	T	0.58708	0.2141	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.64058	-0.6496	10	0.08179	T	0.78	.	6.8404	0.23959	0.2327:0.5526:0.1217:0.093	.	254;254	P01009-2;P01009	.;A1AT_HUMAN	H	254	ENSP00000390299:Q254H;ENSP00000416066:Q254H;ENSP00000408474:Q254H;ENSP00000348068:Q254H;ENSP00000376802:Q254H;ENSP00000376803:Q254H;ENSP00000385960:Q254H;ENSP00000416354:Q254H;ENSP00000386094:Q254H	ENSP00000348068:Q254H	Q	-	3	2	SERPINA1	93917116	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.836000	0.01690	-0.949000	0.03663	-0.387000	0.06579	CAG	SERPINA1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197249		0.532	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	-	0	74	0	C	NM_001002235		94847363	-1	tier1	-	no_errors	ENST00000355814	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.000	G	G	94847363	C	G	94847363	3	3	21	1	0	0	0	0	1	0	0	0	14131	796	28	5	506	5	SERPINA1	14	94847363	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3165532	94847363	12502177	326	5713											
DICER1	23405	genome.wustl.edu	37	chr14	95570212	95570212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaagaaagaccattaattGctgtaagatctgctgaaact	15	12	8	6	0	1	4	0	1	1	3	1	4	1	4	1	0	3	4	1	0	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:95570212G>T	ENST00000526495.1	-	23	3812	c.3521C>A	c.(3520-3522)gCa>gAa	p.A1174E	DICER1_ENST00000556045.1_Missense_Mutation_p.A72E|DICER1_ENST00000527414.1_Missense_Mutation_p.A1174E|DICER1_ENST00000541352.1_Missense_Mutation_p.A1174E|DICER1_ENST00000393063.1_Missense_Mutation_p.A1174E|DICER1_ENST00000343455.3_Missense_Mutation_p.A1174E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1174					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACCATTAATTGCTGTAAGATC	0.413			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													91	90	90					14																	95570212		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3521C>A	14.37:g.95570212G>T	ENSP00000437256:p.Ala1174Glu		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.A1174E	ENST00000526495.1	37	c.3521	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190002	0.58017	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.86769	0.46;0.46;0.46;0.46;-2.17;0.76	5.24	5.24	0.73138	.	0.087644	0.49916	D	0.000135	T	0.81235	0.4780	L	0.29908	0.895	0.46849	D	0.999226	P;B;B	0.46706	0.883;0.094;0.09	B;B;B	0.44224	0.444;0.023;0.051	T	0.79070	-0.1954	10	0.02654	T	1	-10.5635	18.8506	0.92227	0.0:0.0:1.0:0.0	.	72;1174;1174	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	E	1174;1174;1174;1174;72;1174	ENSP00000343745:A1174E;ENSP00000437256:A1174E;ENSP00000376783:A1174E;ENSP00000435681:A1174E;ENSP00000451041:A72E;ENSP00000444719:A1174E	ENSP00000343745:A1174E	A	-	2	0	DICER1	94639965	1.000000	0.71417	0.821000	0.32701	0.998000	0.95712	2.887000	0.48586	2.450000	0.82876	0.561000	0.74099	GCA	DICER1	-	NULL	ENSG00000100697		0.413	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	-	0	30	0	G			95570212	-1	tier1	-	no_errors	ENST00000343455	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	95570212	G	T	95570212	3	4	21	1	0	0	0	0	1	0	0	0	4535	1319	46	3	2275	3	DICER1	14	95570212	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	722849	95570212	11779328	327	5714											
C14orf49	161176	genome.wustl.edu	37	chr14	95918609	95918609	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcctggatggtagcgaTgacactatcagagagtggct	11	10	12	8	1	1	2	1	1	0	1	2	5	2	3	1	3	2	2	1	3	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:95918609T>A	ENST00000334258.5	-	6	1263	c.1249A>T	c.(1249-1251)Atc>Ttc	p.I417F	SYNE3_ENST00000553340.1_Missense_Mutation_p.I417F|SYNE3_ENST00000557275.1_Missense_Mutation_p.I417F|SYNE3_ENST00000554873.1_Missense_Mutation_p.I174F	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	417					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						ATGGTAGCGATGACACTATCA	0.612											OREG0022900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122	102	109					14																	95918609		2203	4300	6503	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1249A>T	14.37:g.95918609T>A	ENSP00000334308:p.Ile417Phe	1316	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.I417F	ENST00000334258.5	37	c.1249	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	T	5.418	0.262323	0.10239	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.14266	3.46;2.52;3.46;2.87	4.68	1.77	0.24775	.	0.206205	0.24039	N	0.042113	T	0.07279	0.0184	N	0.19112	0.55	0.23838	N	0.996702	P;P;P	0.42757	0.789;0.789;0.684	B;B;B	0.38106	0.265;0.265;0.136	T	0.24190	-1.0167	10	0.48119	T	0.1	-24.9213	5.3006	0.15776	0.0:0.5504:0.1453:0.3042	.	417;417;417	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	F	417;174;417;417	ENSP00000334308:I417F;ENSP00000452154:I174F;ENSP00000450562:I417F;ENSP00000450774:I417F	ENSP00000334308:I417F	I	-	1	0	C14orf49	94988362	0.708000	0.27876	0.010000	0.14722	0.002000	0.02628	0.261000	0.18442	0.155000	0.19261	-1.552000	0.00895	ATC	SYNE3	-	NULL	ENSG00000176438		0.612	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	-	0	64	0	T	NM_152592		95918609	-1	tier1	-	no_errors	ENST00000334258	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.527	A	A	95918609	T	A	95918609	3	1	21	1	0	0	0	0	1	0	0	0	1781	1464	51	5	1726	5	C14orf49	14	95918609	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	348397	95918609	11430931	328	5715											
VRK1	7443	genome.wustl.edu	37	chr14	97322574	97322574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcctaaatatgttagaGattccaaaattaggtaaagg	18	11	8	4	0	0	2	0	0	0	2	2	3	2	2	2	2	0	2	2	2	10	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr14:97322574G>T	ENST00000216639.3	+	9	966	c.817G>T	c.(817-819)Gat>Tat	p.D273Y		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Golgi disassembly (GO:0090166)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-T3 phosphorylation (GO:0072355)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi stack (GO:0005795)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H3-S10 specific) (GO:0035175)|histone kinase activity (H3-T3 specific) (GO:0072354)|nucleosomal histone binding (GO:0031493)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D273Y(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		ATATGTTAGAGATTCCAAAAT	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											85	86	86					14																	97322574		2203	4300	6503	SO:0001583	missense	0			AB000449	CCDS9947.1	14q32.2	2012-07-05			ENSG00000100749	ENSG00000100749			12718	protein-coding gene	gene with protein product		602168				9344656	Standard	XM_006720247		Approved		uc001yft.3	Q99986	OTTHUMG00000171459	ENST00000216639.3:c.817G>T	14.37:g.97322574G>T	ENSP00000216639:p.Asp273Tyr		Q3SYL2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.D273Y	ENST00000216639.3	37	c.817	CCDS9947.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.936206|3.936206	0.73442|0.73442	.|.	.|.	ENSG00000100749|ENSG00000100749	ENST00000216639|ENST00000557222;ENST00000557352	T|T;T	0.63913|0.66280	-0.07|-0.2;2.1	5.96|5.96	5.07|5.07	0.68467|0.68467	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.090395|.	0.85682|.	D|.	0.000000|.	T|T	0.55752|0.55752	0.1940|0.1940	L|L	0.31476|0.31476	0.935|0.935	0.80722|0.80722	D|D	1|1	D|.	0.54397|.	0.966|.	P|.	0.50934|.	0.654|.	T|T	0.52741|0.52741	-0.8535|-0.8535	10|6	0.25106|.	T|.	0.35|.	-12.8922|-12.8922	10.7606|10.7606	0.46261|0.46261	0.0682:0.132:0.7998:0.0|0.0682:0.132:0.7998:0.0	.|.	273|.	Q99986|.	VRK1_HUMAN|.	Y|I	273|129;54	ENSP00000216639:D273Y|ENSP00000450820:R129I;ENSP00000451682:R54I	ENSP00000216639:D273Y|.	D|R	+|+	1|2	0|0	VRK1|VRK1	96392327|96392327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	4.887000|4.887000	0.63156|0.63156	1.492000|1.492000	0.48499|0.48499	0.655000|0.655000	0.94253|0.94253	GAT|AGA	VRK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000100749		0.328	VRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRK1	HGNC	protein_coding	OTTHUMT00000413520.1		0	53	0	G	NM_003384		97322574	1			no_errors	ENST00000216639	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	97322574	G	T	97322574	3	4	21	1	0	0	0	0	1	0	0	0	17268	942	33	3	847	3	VRK1	14	97322574	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1403965	97322574	10026966	329	5716											
NIPA2	81614	genome.wustl.edu	37	chr15	23006735	23006735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacaggagactgaaaacGcgccgattacagagcagatt	15	6	10	10	3	1	4	1	1	0	3	1	6	1	4	1	1	3	1	1	1	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:23006735G>T	ENST00000337451.3	-	8	1181	c.569C>A	c.(568-570)gCg>gAg	p.A190E	NIPA2_ENST00000398013.3_Missense_Mutation_p.A190E|NIPA2_ENST00000539711.2_Missense_Mutation_p.A171E|NIPA2_ENST00000359727.4_Missense_Mutation_p.A171E|NIPA2_ENST00000398014.2_Missense_Mutation_p.A190E	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	190						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.A171V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GACTGAAAACGCGCCGATTAC	0.517																																																	1	Substitution - Missense(1)	endometrium(1)											71	65	67					15																	23006735		2203	4300	6503	SO:0001583	missense	0			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.569C>A	15.37:g.23006735G>T	ENSP00000337618:p.Ala190Glu		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.A190E	ENST00000337451.3	37	c.569	CCDS10010.1	15	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347098	0.61183	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.91351	-2.83;-2.83;-2.83	5.54	5.54	0.83059	.	0.045801	0.85682	D	0.000000	D	0.94568	0.8250	M	0.61703	1.905	0.80722	D	1	P;D	0.65815	0.862;0.995	P;D	0.66716	0.765;0.946	D	0.94588	0.7785	10	0.87932	D	0	-6.2548	19.8379	0.96666	0.0:0.0:1.0:0.0	.	171;190	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	E	190;190;171;190;171	ENSP00000337618:A190E;ENSP00000381096:A190E;ENSP00000352762:A171E	ENSP00000337618:A190E	A	-	2	0	NIPA2	20558176	1.000000	0.71417	0.789000	0.31954	0.005000	0.04900	9.731000	0.98807	2.765000	0.95021	0.655000	0.94253	GCG	NIPA2	-	pfam_Mg_trans_NIPA	ENSG00000140157		0.517	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA2	HGNC	protein_coding	OTTHUMT00000251137.1		0	32	0	G	NM_030922		23006735	-1			no_errors	ENST00000337451	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	23006735	G	T	23006735	3	4	21	1	0	0	0	0	1	0	0	0	10462	1087	38	2	517	2	NIPA2	15	23006735	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		23006735	79524657	330	5717											
MKRN3	7681	genome.wustl.edu	37	chr15	23811569	23811569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccagggcagccctaccggGgccgctgggttgcatctgcc	4	8	14	15	2	1	0	0	0	1	0	2	0	2	0	5	4	4	4	5	4	1	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:23811569G>A	ENST00000314520.3	+	1	1116	c.640G>A	c.(640-642)Ggc>Agc	p.G214S	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	214					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GCCCTACCGGGGCCGCTGGGT	0.592																																																	0													39	45	43					15																	23811569		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.640G>A	15.37:g.23811569G>A	ENSP00000313881:p.Gly214Ser			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.G214S	ENST00000314520.3	37	c.640	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346694	0.82022	.	.	ENSG00000179455	ENST00000314520	T	0.33438	1.41	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.19844	-1.0293	10	0.44086	T	0.13	.	12.0845	0.53690	0.0:0.0:1.0:0.0	.	214	Q13064	MKRN3_HUMAN	S	214	ENSP00000313881:G214S	ENSP00000313881:G214S	G	+	1	0	MKRN3	21362662	1.000000	0.71417	0.994000	0.49952	0.885000	0.51271	6.675000	0.74493	2.567000	0.86603	0.655000	0.94253	GGC	MKRN3	-	NULL	ENSG00000179455		0.592	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0	51	0	G	NM_005664		23811569	1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	42.65	39	29	SNP	1.000	A	A	23811569	G	A	23811569	3	1	21	1	0	0	0	0	1	0	0	0	9646	1232	43	3	642	3	MKRN3	15	23811569	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	804834	23811569	78719823	331	5718											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890265	23890265	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcgtggcggctcgacGgaggtcttggaggcctcttg	4	8	19	10	5	2	0	0	0	2	0	3	4	2	2	1	7	1	1	1	7	0	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:23890265G>C	ENST00000532292.1	-	1	910	c.816C>G	c.(814-816)tcC>tcG	p.S272S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	155					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCGGCTCGACGGAGGTCTTGG	0.632																																																	0													33	41	39					15																	23890265		2183	4287	6470	SO:0001819	synonymous_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.816C>G	15.37:g.23890265G>C				Silent	SNP	pfam_MAGE,pfscan_MAGE	p.S272	ENST00000532292.1	37	c.816		15	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.365002	0.01235	.	.	ENSG00000254585	ENST00000532292	.	.	.	2.61	-2.99	0.05497	.	.	.	.	.	T	0.17746	0.0426	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	T	0.23726	-1.0180	4	.	.	.	.	0.8904	0.01253	0.2921:0.1655:0.3748:0.1676	.	.	.	.	R	304	.	.	P	-	2	0	MAGEL2	21441358	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.190000	0.09615	-0.737000	0.04824	0.563000	0.77884	CCG	MAGEL2	-	NULL	ENSG00000254585		0.632	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	95	0	G	NM_019066		23890265	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	silent	22.97	57	17	SNP	0.000	C	C	23890265	G	C	23890265	2	2	21	1	0	0	0	0	0	0	0	1	9227	1103	39	5		5	MAGEL2	15	23890265	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	78696	23890265	78641127	332	5719											
HERC2	8924	genome.wustl.edu	37	chr15	28437270	28437270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgcttcagctgttttccaGaacggccacaaaataccgca	13	8	7	13	3	1	1	1	0	0	1	2	1	2	1	3	1	4	4	3	1	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:28437270G>A	ENST00000261609.7	-	53	8396	c.8288C>T	c.(8287-8289)tCt>tTt	p.S2763F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTTTTCCAGAACGGCCACA	0.498											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101	99	100					15																	28437270		2203	4300	6503	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8288C>T	15.37:g.28437270G>A	ENSP00000261609:p.Ser2763Phe	801		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.S2763F	ENST00000261609.7	37	c.8288	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.316426	0.95655	.	.	ENSG00000128731	ENST00000261609	T	0.64438	-0.1	5.67	5.67	0.87782	Anaphase-promoting complex, subunit 10/DOC domain (1);Galactose-binding domain-like (1);	0.119302	0.64402	D	0.000016	T	0.73473	0.3591	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.998;0.99	D;D	0.78314	0.991;0.974	T	0.75048	-0.3455	10	0.72032	D	0.01	.	19.7646	0.96335	0.0:0.0:1.0:0.0	.	230;2763	A8KAQ8;O95714	.;HERC2_HUMAN	F	2763	ENSP00000261609:S2763F	ENSP00000261609:S2763F	S	-	2	0	HERC2	26110865	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.976000	0.88070	2.675000	0.91044	0.471000	0.43371	TCT	HERC2	-	superfamily_Galactose-bd-like	ENSG00000128731		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	32	0	G	NM_004667		28437270	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A	A	28437270	G	A	28437270	3	1	21	1	0	0	0	0	1	0	0	0	7085	942	33	3	6380	3	HERC2	15	28437270	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4547005	28437270	74094122	333	5720											
APBA2	321	genome.wustl.edu	37	chr15	29346341	29346341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacctctgaggaggaggActatgacgagggcctccctg	10	6	13	12	1	1	2	0	2	1	0	2	6	2	5	3	4	1	0	3	4	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:29346341A>T	ENST00000558402.1	+	5	853	c.254A>T	c.(253-255)gAc>gTc	p.D85V	APBA2_ENST00000411764.1_Missense_Mutation_p.D85V|APBA2_ENST00000558330.1_Missense_Mutation_p.D85V|APBA2_ENST00000561069.1_Missense_Mutation_p.D85V|APBA2_ENST00000558259.1_Missense_Mutation_p.D85V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	85					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGAGGAGGACTATGACGAG	0.622																																																	0													134	129	131					15																	29346341		2203	4300	6503	SO:0001583	missense	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.254A>T	15.37:g.29346341A>T	ENSP00000453293:p.Asp85Val		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.D85V	ENST00000558402.1	37	c.254	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	A	19.92	3.916832	0.73098	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.48522	0.81	5.25	4.13	0.48395	.	0.191712	0.43416	D	0.000561	T	0.62950	0.2470	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.997	T	0.62248	-0.6894	10	0.54805	T	0.06	.	8.7931	0.34863	0.9144:0.0:0.0856:0.0	.	85;85;85	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	V	85	ENSP00000409312:D85V	ENSP00000219865:D85V	D	+	2	0	APBA2	27133633	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.919000	0.87513	0.832000	0.34804	0.528000	0.53228	GAC	APBA2	-	NULL	ENSG00000034053		0.622	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3		0	54	0	A	NM_005503		29346341	1			no_errors	ENST00000558259	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	29346341	A	T	29346341	3	4	21	1	0	0	0	0	1	0	0	0	757	275	10	5	256	5	APBA2	15	29346341	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	909071	29346341	73185051	334	5721											
ZNF770	54989	genome.wustl.edu	37	chr15	35274883	35274883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagattctgtacgcctCttctttaataaaagagcccg	10	11	10	10	3	3	2	0	0	3	2	3	3	3	2	2	1	2	1	2	1	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35274883C>A	ENST00000356321.4	-	3	1097	c.753G>T	c.(751-753)aaG>aaT	p.K251N		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	251					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTGTACGCCTCTTCTTTAATA	0.373																																																	0													41	43	42					15																	35274883		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.753G>T	15.37:g.35274883C>A	ENSP00000348673:p.Lys251Asn		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K251N	ENST00000356321.4	37	c.753	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	0.765	-0.767931	0.02974	.	.	ENSG00000198146	ENST00000356321	T	0.10192	2.9	5.02	-0.942	0.10398	.	2.915120	0.01593	U	0.021682	T	0.07234	0.0183	N	0.19112	0.55	0.09310	N	1	B	0.28971	0.229	B	0.25759	0.063	T	0.29761	-1.0001	10	0.87932	D	0	10.7469	2.2316	0.03998	0.1444:0.1617:0.1433:0.5505	.	251	Q6IQ21	ZN770_HUMAN	N	251	ENSP00000348673:K251N	ENSP00000348673:K251N	K	-	3	2	ZNF770	33062175	0.151000	0.22747	0.007000	0.13788	0.098000	0.18820	0.362000	0.20284	-0.309000	0.08779	0.655000	0.94253	AAG	ZNF770	-	NULL	ENSG00000198146		0.373	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	27	0	C	NM_014106		35274883	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	63.89	13	23	SNP	0.013	A	A	35274883	C	A	35274883	3	1	21	1	0	0	0	0	1	0	0	0	18191	912	32	3	1326	3	ZNF770	15	35274883	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	5928542	35274883	67256509	335	5722			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35274940	35274940	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatggatttgtttatgcttCagaagtttgctttgaatctt	8	20	9	4	0	2	2	1	1	1	1	2	3	2	3	0	1	2	5	0	1	4	8			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35274940C>T	ENST00000356321.4	-	3	1040	c.696G>A	c.(694-696)ctG>ctA	p.L232L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	232					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GTTTATGCTTCAGAAGTTTGC	0.353																																																	0													46	45	45					15																	35274940		2201	4297	6498	SO:0001819	synonymous_variant	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.696G>A	15.37:g.35274940C>T			Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L232	ENST00000356321.4	37	c.696	CCDS10042.1	15																																																																																			ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.353	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	36	0	C	NM_014106		35274940	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	silent	47.27	29	26	SNP	0.992	T	T	35274940	C	T	35274940	2	4	21	1	0	0	0	0	0	0	0	1	18191	813	29	3		3	ZNF770	15	35274940	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	57	35274940	67256452	336	5723			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35274965	35274965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtttgctttgaatcttaaatCctttttgacaaaaacaacat	14	16	4	7	0	1	2	0	2	1	0	2	2	2	2	1	0	3	2	1	0	6	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35274965C>G	ENST00000356321.4	-	3	1015	c.671G>C	c.(670-672)gGa>gCa	p.G224A		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	224					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AATCTTAAATCCTTTTTGACA	0.348																																																	0													52	49	50					15																	35274965		2200	4298	6498	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.671G>C	15.37:g.35274965C>G	ENSP00000348673:p.Gly224Ala		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G224A	ENST00000356321.4	37	c.671	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932119	0.34096	.	.	ENSG00000198146	ENST00000356321	T	0.06608	3.28	5.28	5.28	0.74379	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.251738	0.24991	N	0.033999	T	0.04003	0.0112	N	0.01824	-0.7	0.28739	N	0.902072	P	0.50272	0.933	P	0.55749	0.783	T	0.35400	-0.9790	10	0.02654	T	1	-10.6155	9.1211	0.36788	0.0:0.7751:0.1485:0.0765	.	224	Q6IQ21	ZN770_HUMAN	A	224	ENSP00000348673:G224A	ENSP00000348673:G224A	G	-	2	0	ZNF770	33062257	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	1.721000	0.38032	2.736000	0.93811	0.655000	0.94253	GGA	ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	38	0	C	NM_014106		35274965	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	47.27	29	26	SNP	1.000	G	G	35274965	C	G	35274965	3	3	21	1	0	0	0	0	1	0	0	0	18191	855	30	5	1408	5	ZNF770	15	35274965	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	25	35274965	67256427	337	5724			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275079	35275079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagacacatttaaaaggcCtctgaccagtatgaataagt	17	9	7	8	0	1	3	0	2	1	1	1	3	1	3	2	1	0	1	2	1	6	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275079C>A	ENST00000356321.4	-	3	901	c.557G>T	c.(556-558)aGg>aTg	p.R186M		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	186					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTTAAAAGGCCTCTGACCAGT	0.348																																																	0													65	64	65					15																	35275079		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.557G>T	15.37:g.35275079C>A	ENSP00000348673:p.Arg186Met		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R186M	ENST00000356321.4	37	c.557	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525866	0.44969	.	.	ENSG00000198146	ENST00000356321	T	0.20332	2.08	5.28	1.1	0.20463	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.070768	0.52532	D	0.000071	T	0.38532	0.1044	M	0.74647	2.275	0.29698	N	0.840428	D	0.76494	0.999	D	0.71870	0.975	T	0.22661	-1.0210	10	0.87932	D	0	-9.9783	6.5284	0.22314	0.0:0.4155:0.0:0.5845	.	186	Q6IQ21	ZN770_HUMAN	M	186	ENSP00000348673:R186M	ENSP00000348673:R186M	R	-	2	0	ZNF770	33062371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.481000	0.35476	0.381000	0.24851	0.655000	0.94253	AGG	ZNF770	-	pfscan_Znf_C2H2	ENSG00000198146		0.348	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	25	0	C	NM_014106		35275079	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	47.92	25	23	SNP	0.998	A	A	35275079	C	A	35275079	3	1	21	1	0	0	0	0	1	0	0	0	18191	681	24	3	1522	3	ZNF770	15	35275079	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	114	35275079	67256313	338	5725			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275110	35275110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaataagtacatgcctatCaagttttgactgtgatggaa	14	13	9	5	0	1	3	1	3	0	0	1	4	1	4	1	1	2	2	1	1	6	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275110C>G	ENST00000356321.4	-	3	870	c.526G>C	c.(526-528)Gat>Cat	p.D176H		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	176					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACATGCCTATCAAGTTTTGAC	0.378																																																	0													77	75	76					15																	35275110		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.526G>C	15.37:g.35275110C>G	ENSP00000348673:p.Asp176His		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D176H	ENST00000356321.4	37	c.526	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986903	0.35036	.	.	ENSG00000198146	ENST00000356321	T	0.07908	3.15	5.28	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.156215	0.40908	D	0.000982	T	0.15219	0.0367	L	0.31664	0.95	0.09310	N	0.999997	D	0.61697	0.99	D	0.66602	0.945	T	0.04737	-1.0930	10	0.41790	T	0.15	-14.4254	11.2489	0.49013	0.0:0.8537:0.0:0.1463	.	176	Q6IQ21	ZN770_HUMAN	H	176	ENSP00000348673:D176H	ENSP00000348673:D176H	D	-	1	0	ZNF770	33062402	0.515000	0.26210	0.984000	0.44739	0.992000	0.81027	1.136000	0.31467	1.455000	0.47813	0.655000	0.94253	GAT	ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.378	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	31	0	C	NM_014106		35275110	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	43.14	29	22	SNP	0.269	G	G	35275110	C	G	35275110	3	3	21	1	0	0	0	0	1	0	0	0	18191	826	29	5	1553	5	ZNF770	15	35275110	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	31	35275110	67256282	339	5726			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275135	35275135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgactgtgatggaaacatCttgccacagattgtacatgc	11	13	9	8	0	1	3	0	2	1	1	1	4	1	4	1	1	4	1	1	1	2	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275135C>G	ENST00000356321.4	-	3	845	c.501G>C	c.(499-501)aaG>aaC	p.K167N		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	167					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATGGAAACATCTTGCCACAGA	0.393																																																	0													90	86	88					15																	35275135		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.501G>C	15.37:g.35275135C>G	ENSP00000348673:p.Lys167Asn		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K167N	ENST00000356321.4	37	c.501	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656477	0.47467	.	.	ENSG00000198146	ENST00000356321	T	0.07908	3.15	5.28	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.14614	0.0353	L	0.29908	0.895	0.32946	D	0.519143	D	0.89917	1.0	D	0.91635	0.999	T	0.08785	-1.0705	10	0.87932	D	0	-10.496	8.2872	0.31935	0.0:0.6238:0.0:0.3762	.	167	Q6IQ21	ZN770_HUMAN	N	167	ENSP00000348673:K167N	ENSP00000348673:K167N	K	-	3	2	ZNF770	33062427	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	2.245000	0.43133	0.091000	0.17302	0.655000	0.94253	AAG	ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.393	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	30	0	C	NM_014106		35275135	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	40.38	31	21	SNP	0.999	G	G	35275135	C	G	35275135	3	3	21	1	0	0	0	0	1	0	0	0	18191	912	32	5	1578	5	ZNF770	15	35275135	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	25	35275135	67256257	340	5727			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275177	35275177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatattctttcttcttttCatgctatacatgggatcaga	10	18	6	7	0	5	2	2	1	3	1	5	3	5	3	0	1	2	1	0	1	4	8	rs146890379		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275177C>T	ENST00000356321.4	-	3	803	c.459G>A	c.(457-459)atG>atA	p.M153I		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	153					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCTTCTTTTCATGCTATACA	0.393																																																	0													101	97	98					15																	35275177		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.459G>A	15.37:g.35275177C>T	ENSP00000348673:p.Met153Ile		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M153I	ENST00000356321.4	37	c.459	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	1.081	-0.666896	0.03428	.	.	ENSG00000198146	ENST00000356321	T	0.07021	3.23	4.88	1.55	0.23275	.	0.931618	0.08861	N	0.883081	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.44667	-0.9313	10	0.02654	T	1	0.8896	3.7897	0.08715	0.0:0.2373:0.2097:0.553	.	153	Q6IQ21	ZN770_HUMAN	I	153	ENSP00000348673:M153I	ENSP00000348673:M153I	M	-	3	0	ZNF770	33062469	0.999000	0.42202	0.160000	0.22671	0.476000	0.33039	0.404000	0.20999	0.540000	0.28808	0.561000	0.74099	ATG	ZNF770	-	NULL	ENSG00000198146		0.393	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	38	0	C	NM_014106		35275177	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	45.24	23	19	SNP	0.001	T	T	35275177	C	T	35275177	3	4	21	1	0	0	0	0	1	0	0	0	18191	826	29	3	1620	3	ZNF770	15	35275177	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	42	35275177	67256215	341	5728			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275194	35275194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatgctatacatgggatCagacttagagcacgggtgta	11	12	11	7	1	2	2	2	0	0	2	2	3	2	3	0	2	3	3	0	2	4	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275194C>G	ENST00000356321.4	-	3	786	c.442G>C	c.(442-444)Gat>Cat	p.D148H		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	148					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TACATGGGATCAGACTTAGAG	0.393																																																	0													110	104	106					15																	35275194		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.442G>C	15.37:g.35275194C>G	ENSP00000348673:p.Asp148His		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D148H	ENST00000356321.4	37	c.442	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	10.42	1.343956	0.24339	.	.	ENSG00000198146	ENST00000356321	T	0.10288	2.89	5.13	3.18	0.36537	.	0.069689	0.53938	N	0.000057	T	0.16557	0.0398	L	0.32530	0.975	0.30490	N	0.771468	D	0.69078	0.997	P	0.58077	0.832	T	0.02371	-1.1169	10	0.87932	D	0	-6.2949	10.704	0.45944	0.0:0.7959:0.1322:0.0719	.	148	Q6IQ21	ZN770_HUMAN	H	148	ENSP00000348673:D148H	ENSP00000348673:D148H	D	-	1	0	ZNF770	33062486	0.999000	0.42202	0.994000	0.49952	0.050000	0.14768	0.727000	0.25999	0.681000	0.31386	0.655000	0.94253	GAT	ZNF770	-	NULL	ENSG00000198146		0.393	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	35	0	C	NM_014106		35275194	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	45.45	24	20	SNP	0.974	G	G	35275194	C	G	35275194	3	3	21	1	0	0	0	0	1	0	0	0	18191	826	29	5	1637	5	ZNF770	15	35275194	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	17	35275194	67256198	342	5729			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275227	35275227	+	Nonsense_Mutation	SNP	C	C	A																															cgggtgtaatgcccatctttCctctgtggtaaaagtattat																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275227C>A	ENST00000356321.4	-	3	753	c.409G>T	c.(409-411)Gaa>Taa	p.E137*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	137					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCCCATCTTTCCTCTGTGGTA	0.388																																																	0													119	113	115					15																	35275227		2201	4298	6499	SO:0001587	stop_gained	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.409G>T	15.37:g.35275227C>A	ENSP00000348673:p.Glu137*		Q6ZMZ6|Q9NWV2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E137*	ENST00000356321.4	37	c.409	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.096130	0.94197	.	.	ENSG00000198146	ENST00000356321	.	.	.	4.7	4.7	0.59300	.	0.074395	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2729	17.8245	0.88660	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000348673:E137X	E	-	1	0	ZNF770	33062519	0.999000	0.42202	1.000000	0.80357	0.861000	0.49209	2.934000	0.48956	2.434000	0.82447	0.655000	0.94253	GAA	ZNF770	-	NULL	ENSG00000198146		0.388	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	52	0	C	NM_014106		35275227	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	nonsense	44.90	27	22	SNP	1.000	A	A	35275227	C	A	35275227	4	1	21	1	0	0	0	0	0	1	0	0	18191	864	30	3	1670	3	ZNF770	15	35275227	Nonsense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	33	35275227	67256165	343	5730	21	2	1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275230	35275230	+	Nonsense_Mutation	SNP	C	C	A																															gtgtaatgcccatctttcctCtgtggtaaaagtattataca																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275230C>A	ENST00000356321.4	-	3	750	c.406G>T	c.(406-408)Gag>Tag	p.E136*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	136					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CATCTTTCCTCTGTGGTAAAA	0.383																																																	0													119	113	115					15																	35275230		2201	4298	6499	SO:0001587	stop_gained	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.406G>T	15.37:g.35275230C>A	ENSP00000348673:p.Glu136*		Q6ZMZ6|Q9NWV2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E136*	ENST00000356321.4	37	c.406	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973894	0.74246	.	.	ENSG00000198146	ENST00000356321	.	.	.	4.86	2.95	0.34219	.	0.308202	0.29579	N	0.011745	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-1.4898	9.6105	0.39659	0.0:0.6563:0.2706:0.0731	.	.	.	.	X	136	.	ENSP00000348673:E136X	E	-	1	0	ZNF770	33062522	.	.	0.996000	0.52242	0.880000	0.50808	.	.	0.626000	0.30322	-0.150000	0.13652	GAG	ZNF770	-	NULL	ENSG00000198146		0.383	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	51	0	C	NM_014106		35275230	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	nonsense	45.28	29	24	SNP	0.768	A	A	35275230	C	A	35275230	4	1	21	1	0	0	0	0	0	1	0	0	18191	922	32	3	1673	3	ZNF770	15	35275230	Nonsense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3	35275230	67256162	344	5731	21	2	1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275289	35275289	+	Missense_Mutation	SNP	C	C	G																															cttgcttggcctccagcaatCttctgacctgtttaacatta																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275289C>G	ENST00000356321.4	-	3	691	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	116					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTCCAGCAATCTTCTGACCTG	0.393																																																	0													109	106	107					15																	35275289		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.347G>C	15.37:g.35275289C>G	ENSP00000348673:p.Arg116Thr		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R116T	ENST00000356321.4	37	c.347	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017490	0.35606	.	.	ENSG00000198146	ENST00000356321	T	0.09445	2.98	4.86	4.86	0.63082	.	0.204103	0.41001	D	0.000972	T	0.09992	0.0245	L	0.27053	0.805	0.33963	D	0.64588	D	0.54207	0.965	P	0.47573	0.55	T	0.07177	-1.0786	10	0.87932	D	0	-11.5781	6.663	0.23024	0.0:0.8111:0.0:0.1889	.	116	Q6IQ21	ZN770_HUMAN	T	116	ENSP00000348673:R116T	ENSP00000348673:R116T	R	-	2	0	ZNF770	33062581	0.592000	0.26832	0.999000	0.59377	0.770000	0.43624	0.499000	0.22546	2.515000	0.84797	0.655000	0.94253	AGA	ZNF770	-	NULL	ENSG00000198146		0.393	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	46	0	C	NM_014106		35275289	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	44.87	43	35	SNP	0.998	G	G	35275289	C	G	35275289	3	3	21	1	0	0	0	0	1	0	0	0	18191	913	32	5	1732	5	ZNF770	15	35275289	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	59	35275289	67256103	345	5732	22	2	1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275292	35275292	+	Missense_Mutation	SNP	C	C	T																															gcttggcctccagcaatcttCtgacctgtttaacattattc																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275292C>T	ENST00000356321.4	-	3	688	c.344G>A	c.(343-345)aGa>aAa	p.R115K		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	115					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAGCAATCTTCTGACCTGTTT	0.378																																																	0													106	104	105					15																	35275292		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.344G>A	15.37:g.35275292C>T	ENSP00000348673:p.Arg115Lys		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R115K	ENST00000356321.4	37	c.344	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	3.062	-0.193058	0.06259	.	.	ENSG00000198146	ENST00000356321	T	0.08896	3.04	4.86	3.86	0.44501	.	0.384566	0.25523	N	0.030094	T	0.05364	0.0142	N	0.11560	0.145	0.25533	N	0.987259	B	0.19583	0.037	B	0.10450	0.005	T	0.31861	-0.9928	10	0.87932	D	0	-6.5457	12.6268	0.56634	0.0:0.9078:0.0:0.0922	.	115	Q6IQ21	ZN770_HUMAN	K	115	ENSP00000348673:R115K	ENSP00000348673:R115K	R	-	2	0	ZNF770	33062584	0.926000	0.31397	0.997000	0.53966	0.721000	0.41392	0.730000	0.26043	2.515000	0.84797	0.655000	0.94253	AGA	ZNF770	-	NULL	ENSG00000198146		0.378	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	46	0	C	NM_014106		35275292	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	43.42	43	33	SNP	0.981	T	T	35275292	C	T	35275292	3	4	21	1	0	0	0	0	1	0	0	0	18191	913	32	3	1735	3	ZNF770	15	35275292	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	3	35275292	67256100	346	5733	22	2	1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275345	35275345	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaagttgttggtgcttCacaaatgtcttcagattttt	8	19	9	5	0	3	2	2	1	1	1	3	2	3	2	0	1	1	3	0	1	2	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275345C>A	ENST00000356321.4	-	3	635	c.291G>T	c.(289-291)gtG>gtT	p.V97V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	97					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GTTGGTGCTTCACAAATGTCT	0.368																																																	0													85	86	86					15																	35275345		2201	4298	6499	SO:0001819	synonymous_variant	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.291G>T	15.37:g.35275345C>A			Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V97	ENST00000356321.4	37	c.291	CCDS10042.1	15																																																																																			ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	46	0	C	NM_014106		35275345	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	silent	38.81	41	26	SNP	1.000	A	A	35275345	C	A	35275345	2	1	21	1	0	0	0	0	0	0	0	1	18191	813	29	3		3	ZNF770	15	35275345	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	53	35275345	67256047	347	5734			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275357	35275357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgcttcacaaatgtcttCagatttttaaagtgacgctg	10	15	9	7	1	3	2	2	1	1	1	3	2	3	2	0	1	1	2	0	1	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275357C>T	ENST00000356321.4	-	3	623	c.279G>A	c.(277-279)ctG>ctA	p.L93L		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	93					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAAATGTCTTCAGATTTTTAA	0.368																																																	0													82	84	84					15																	35275357		2201	4298	6499	SO:0001819	synonymous_variant	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.279G>A	15.37:g.35275357C>T			Q6ZMZ6|Q9NWV2	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L93	ENST00000356321.4	37	c.279	CCDS10042.1	15																																																																																			ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.368	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	46	0	C	NM_014106		35275357	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	silent	34.33	44	23	SNP	1.000	T	T	35275357	C	T	35275357	2	4	21	1	0	0	0	0	0	0	0	1	18191	813	29	3		3	ZNF770	15	35275357	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	12	35275357	67256035	348	5735			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275442	35275442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccagatgaactagttgtCtaaaggttttatgacacaca	13	13	7	8	0	2	3	0	2	2	1	3	3	2	3	1	1	1	2	1	1	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275442C>G	ENST00000356321.4	-	3	538	c.194G>C	c.(193-195)aGa>aCa	p.R65T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	65					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AACTAGTTGTCTAAAGGTTTT	0.353																																																	0													79	77	78					15																	35275442		2201	4298	6499	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.194G>C	15.37:g.35275442C>G	ENSP00000348673:p.Arg65Thr		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R65T	ENST00000356321.4	37	c.194	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755761	0.31046	.	.	ENSG00000198146	ENST00000356321	T	0.16073	2.37	5.0	4.08	0.47627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.172661	0.39475	N	0.001358	T	0.14787	0.0357	N	0.03084	-0.415	0.30663	N	0.754194	D	0.89917	1.0	D	0.77557	0.99	T	0.08785	-1.0705	10	0.14252	T	0.57	-10.4495	8.2712	0.31844	0.0:0.7597:0.1589:0.0814	.	65	Q6IQ21	ZN770_HUMAN	T	65	ENSP00000348673:R65T	ENSP00000348673:R65T	R	-	2	0	ZNF770	33062734	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	3.087000	0.50167	1.310000	0.45006	0.655000	0.94253	AGA	ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.353	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	78	0	C	NM_014106		35275442	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	32.47	52	25	SNP	0.981	G	G	35275442	C	G	35275442	3	3	21	1	0	0	0	0	1	0	0	0	18191	913	32	5	1885	5	ZNF770	15	35275442	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	85	35275442	67255950	349	5736			1	7		16	14	582	N	C	1.839192e-37
ZNF770	54989	genome.wustl.edu	37	chr15	35275464	35275464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggttttatgacacacatCacattcaaatggcttttgac	14	13	6	8	0	2	2	2	2	0	0	2	2	2	2	0	2	0	2	0	2	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:35275464C>T	ENST00000356321.4	-	3	516	c.172G>A	c.(172-174)Gat>Aat	p.D58N		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	58					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGACACACATCACATTCAAAT	0.358																																																	0													78	75	76					15																	35275464		2201	4295	6496	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"Zinc fingers, C2H2-type"	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.172G>A	15.37:g.35275464C>T	ENSP00000348673:p.Asp58Asn		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D58N	ENST00000356321.4	37	c.172	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036404	0.08148	.	.	ENSG00000198146	ENST00000356321	T	0.19532	2.14	5.0	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.462765	0.21088	N	0.080368	T	0.09818	0.0241	N	0.17278	0.47	0.27611	N	0.948645	P	0.40970	0.734	B	0.37780	0.258	T	0.12451	-1.0547	10	0.09084	T	0.74	-5.0875	7.4483	0.27223	0.0:0.5872:0.3139:0.0989	.	58	Q6IQ21	ZN770_HUMAN	N	58	ENSP00000348673:D58N	ENSP00000348673:D58N	D	-	1	0	ZNF770	33062756	0.787000	0.28750	1.000000	0.80357	0.991000	0.79684	0.446000	0.21694	1.341000	0.45600	0.655000	0.94253	GAT	ZNF770	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198146		0.358	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	-	0	86	0	C	NM_014106		35275464	-1	tier1	-	no_errors	ENST00000356321	ensembl	human	known	74_37	missense	31.08	51	23	SNP	0.997	T	T	35275464	C	T	35275464	3	4	21	1	0	0	0	0	1	0	0	0	18191	826	29	3	1907	3	ZNF770	15	35275464	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	22	35275464	67255928	350	5737			1	7		16	14	582	N	C	1.839192e-37
ZFP106	64397	genome.wustl.edu	37	chr15	42749300	42749300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccagaaatgtgctttgcaTatgcagaaagacccacttct	12	10	9	10	0	1	3	0	0	1	3	1	3	1	3	2	1	3	3	2	1	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:42749300T>C	ENST00000263805.4	-	1	430	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	35					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGCTTTGCATATGCAGAAAG	0.473																																																	0													75	67	70					15																	42749300		2203	4299	6502	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.104A>G	15.37:g.42749300T>C	ENSP00000263805:p.Tyr35Cys		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y35C	ENST00000263805.4	37	c.104	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989780	0.74589	.	.	ENSG00000103994	ENST00000263805	T	0.46063	0.88	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.62865	0.2463	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66114	-0.6004	10	0.87932	D	0	-19.0884	15.8132	0.78581	0.0:0.0:0.0:1.0	.	35	Q9H2Y7	ZF106_HUMAN	C	35	ENSP00000263805:Y35C	ENSP00000263805:Y35C	Y	-	2	0	ZFP106	40536592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.678000	0.84035	2.140000	0.66376	0.448000	0.29417	TAT	ZNF106	-	smart_Znf_C2H2-like	ENSG00000103994		0.473	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF106	HGNC	protein_coding	OTTHUMT00000422587.1	-	0	43	0	T	NM_022473		42749300	-1	tier1	-	no_errors	ENST00000263805	ensembl	human	known	74_37	missense	40.62	19	13	SNP	1.000	C	C	42749300	T	C	42749300	3	2	21	1	0	0	0	0	1	0	0	0	17685	1406	49	4	5623	4	ZFP106	15	42749300	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	7473836	42749300	59782092	351	5738											
VPS13C	54832	genome.wustl.edu	37	chr15	62147080	62147080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattgtttacctctgctgtgGcggtgtccttcaggtaaact	7	15	10	9	1	2	0	1	0	1	0	3	0	3	0	2	3	3	3	2	3	4	5	rs150119821		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:62147080G>T	ENST00000261517.5	-	84	11223	c.11150C>A	c.(11149-11151)gCc>gAc	p.A3717D	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.A3674D	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCTGCTGTGGCGGTGTCCTT	0.363													G|||	1	0.000199681	8e-04	0	5008	,	,		16417	0		0	False		,,,				2504	0																0								G	ASP/ALA,ASP/ALA	5,4401	9.9+/-24.2	0,5,2198	63	62	62		11021,11150	-0.2	0.2	15	dbSNP_134	62	0,8600		0,0,4300	no	missense,missense	VPS13C	NM_017684.4,NM_020821.2	126,126	0,5,6498	TT,TG,GG		0.0,0.1135,0.0384	benign,benign	3674/3711,3717/3754	62147080	5,13001	2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11150C>A	15.37:g.62147080G>T	ENSP00000261517:p.Ala3717Asp			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A3717D	ENST00000261517.5	37	c.11150	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	3.548	-0.092349	0.07053	0.001135	0.0	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.44482	0.92;0.92	4.92	-0.202	0.13208	.	1.296490	0.05046	N	0.477316	T	0.23649	0.0572	N	0.22421	0.69	0.18873	N	0.999984	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.13845	-1.0494	10	0.18276	T	0.48	.	0.8151	0.01100	0.2553:0.1723:0.3962:0.1761	.	3674;3717	Q709C8-3;Q709C8	.;VP13C_HUMAN	D	3674;3717	ENSP00000249837:A3674D;ENSP00000261517:A3717D	ENSP00000249837:A3674D	A	-	2	0	VPS13C	59934372	0.894000	0.30519	0.179000	0.23059	0.058000	0.15608	1.318000	0.33643	0.069000	0.16605	0.591000	0.81541	GCC	VPS13C	-	NULL	ENSG00000129003		0.363	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	41	0	G	NM_017684		62147080	-1	tier1	rs150119821	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.056	T	T	62147080	G	T	62147080	3	4	21	1	0	0	0	0	1	0	0	0	17240	1203	42	3	119	3	VPS13C	15	62147080	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	19397780	62147080	40384312	352	5739											
PIAS1	8554	genome.wustl.edu	37	chr15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcgtggaaccaaagcGacccagccgaccaattaata	16	5	9	11	3	0	0	0	0	0	0	0	3	0	1	4	2	3	0	4	2	6	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											114	108	110					15																	68438944		1832	4072	5904	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	PIAS1	-	NULL	ENSG00000033800		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2		0	36	0	G			68438944	1			no_errors	ENST00000249636	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	68438944	G	T	68438944	3	4	21	1	0	0	0	0	1	0	0	0	11914	1058	37	2	756	2	PIAS1	15	68438944	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6291864	68438944	34092448	353	5740											
SCAMP2	10066	genome.wustl.edu	37	chr15	75165585	75165585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgaaggggttggtgtcGaaagccgacatggtgatcgg	8	8	17	8	5	0	1	0	1	0	0	3	4	1	1	2	5	1	1	2	5	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:75165585G>T	ENST00000268099.9	-	1	121	c.12C>A	c.(10-12)ttC>ttA	p.F4L		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	4					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						GGTTGGTGTCGAAAGCCGACA	0.662																																																	0													43	39	40					15																	75165585		2009	3889	5898	SO:0001583	missense	0			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"Secretory carrier membrane proteins"	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.12C>A	15.37:g.75165585G>T	ENSP00000268099:p.Phe4Leu		B2RDF0|Q9BQE8	Missense_Mutation	SNP	pfam_SCAMP	p.F4L	ENST00000268099.9	37	c.12	CCDS10271.1	15	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640225	0.47153	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.14893	2.47	5.19	2.26	0.28386	.	0.169976	0.52532	D	0.000079	T	0.09774	0.0240	N	0.25286	0.73	0.33373	D	0.573862	B	0.10296	0.003	B	0.13407	0.009	T	0.16394	-1.0404	10	0.23891	T	0.37	.	7.4434	0.27196	0.2734:0.0:0.7266:0.0	.	4	O15127	SCAM2_HUMAN	L	4	ENSP00000268099:F4L	ENSP00000268099:F4L	F	-	3	2	SCAMP2	72952638	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.646000	0.37249	0.786000	0.33708	0.650000	0.86243	TTC	SCAMP2	-	NULL	ENSG00000140497		0.662	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP2	HGNC	protein_coding	OTTHUMT00000286403.3	-	0	103	0	G	NM_005697		75165585	-1	tier1	-	no_errors	ENST00000268099	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	75165585	G	T	75165585	3	4	21	1	0	0	0	0	1	0	0	0	13916	1049	37	2	1013	2	SCAMP2	15	75165585	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6726641	75165585	27365807	354	5741											
MAN2C1	4123	genome.wustl.edu	37	chr15	75651697	75651697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacgaacacaggctgctggGgcagcaggggctgcagtgag	9	5	17	10	1	0	1	0	1	0	0	0	2	0	1	0	5	5	6	0	5	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:75651697G>T	ENST00000267978.5	-	17	2064	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	MAN2C1_ENST00000563622.1_Missense_Mutation_p.P574H|MAN2C1_ENST00000565683.1_Silent_p.A677A|MAN2C1_ENST00000569482.1_Missense_Mutation_p.P673H	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	673					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGCTGCTGGGGCAGCAGGGG	0.632																																																	0													28	31	30					15																	75651697		2195	4294	6489	SO:0001583	missense	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2018C>A	15.37:g.75651697G>T	ENSP00000267978:p.Pro673His		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P673H	ENST00000267978.5	37	c.2018	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912340	0.72983	.	.	ENSG00000140400	ENST00000267978	T	0.77620	-1.11	5.25	5.25	0.73442	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	L	0.49126	1.545	0.58432	D	0.999996	B;D	0.55172	0.011;0.97	B;P	0.59288	0.015;0.855	T	0.82719	-0.0318	10	0.48119	T	0.1	-26.331	15.9374	0.79723	0.0:0.0:1.0:0.0	.	673;673	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	H	673	ENSP00000267978:P673H	ENSP00000267978:P673H	P	-	2	0	MAN2C1	73438750	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.634000	0.46528	2.623000	0.88846	0.561000	0.74099	CCC	MAN2C1	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000140400		0.632	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1		0	71	0	G			75651697	-1			no_errors	ENST00000267978	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	75651697	G	T	75651697	3	4	21	1	0	0	0	0	1	0	0	0	9256	1232	43	3	1144	3	MAN2C1	15	75651697	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	486112	75651697	26879695	355	5742											
PTPN9	5780	genome.wustl.edu	37	chr15	75763043	75763043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgttgtgaatttctagcGttgttttcttataatgattc	7	21	8	5	1	2	2	0	2	2	0	3	2	2	2	0	0	1	3	0	0	4	9	rs552177179		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:75763043G>T	ENST00000306726.2	-	11	1849	c.1337C>A	c.(1336-1338)aCg>aAg	p.T446K		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	446	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTTCTAGCGTTGTTTTCTT	0.413																																																	0													140	135	137					15																	75763043		2197	4294	6491	SO:0001583	missense	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1337C>A	15.37:g.75763043G>T	ENSP00000303554:p.Thr446Lys		Q53XR9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.T446K	ENST00000306726.2	37	c.1337	CCDS10280.1	15	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735760	0.30774	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.82984	-1.67	5.87	1.74	0.24563	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.325509	0.36200	N	0.002721	T	0.68586	0.3017	L	0.45137	1.4	0.49483	D	0.999799	P	0.37914	0.611	B	0.32805	0.153	T	0.57682	-0.7769	10	0.22109	T	0.4	.	4.5094	0.11903	0.3287:0.0:0.5216:0.1497	.	446	P43378	PTN9_HUMAN	K	446;436	ENSP00000303554:T446K	ENSP00000303554:T446K	T	-	2	0	PTPN9	73550096	1.000000	0.71417	0.686000	0.30086	0.677000	0.39632	3.322000	0.52007	0.322000	0.23283	0.655000	0.94253	ACG	PTPN9	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000169410		0.413	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1		0	90	0	G			75763043	-1			no_errors	ENST00000306726	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.911	T	T	75763043	G	T	75763043	3	4	21	1	0	0	0	0	1	0	0	0	12839	1145	40	2	456	2	PTPN9	15	75763043	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	111346	75763043	26768349	356	5743											
FBXO22	26263	genome.wustl.edu	37	chr15	76222260	76222260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacttcgtgtggtccttGtctttggttataattgctgt	5	19	10	7	1	1	1	0	1	1	0	3	1	2	1	1	2	2	2	1	2	3	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:76222260G>T	ENST00000308275.3	+	6	769	c.664G>T	c.(664-666)Gtc>Ttc	p.V222F	FBXO22_ENST00000453211.2_Missense_Mutation_p.V222F|FBXO22_ENST00000540507.1_Missense_Mutation_p.V118F	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	222					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGTGGTCCTTGTCTTTGGTTA	0.403																																																	0													195	172	180					15																	76222260		2197	4294	6491	SO:0001583	missense	0			AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"F-boxes /  "other""	13593	protein-coding gene	gene with protein product	"FIST domain containing 1"	609096	"F-box only protein 22"			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.664G>T	15.37:g.76222260G>T	ENSP00000307833:p.Val222Phe		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	pfam_FIST_C_domain,pfam_F-box_dom,superfamily_F-box_dom	p.V222F	ENST00000308275.3	37	c.664	CCDS10287.1	15	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240062	0.39598	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	4.97	1.89	0.25635	.	0.428628	0.24154	N	0.041055	T	0.30355	0.0762	N	0.19112	0.55	0.24607	N	0.993742	P;P	0.51351	0.868;0.944	B;P	0.53722	0.23;0.733	T	0.05666	-1.0871	9	0.62326	D	0.03	-24.0953	5.794	0.18377	0.2713:0.1574:0.5713:0.0	.	222;222	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	F	222;222;118	.	ENSP00000307833:V222F	V	+	1	0	FBXO22	74009315	0.862000	0.29867	0.824000	0.32777	0.995000	0.86356	0.682000	0.25335	0.710000	0.31997	-0.145000	0.13849	GTC	FBXO22	-	NULL	ENSG00000167196		0.403	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO22	HGNC	protein_coding	OTTHUMT00000286477.2	-	0	51	0	G	NM_147188		76222260	1	tier1	-	no_errors	ENST00000308275	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.249	T	T	76222260	G	T	76222260	3	4	21	1	0	0	0	0	1	0	0	0	5756	1377	48	3	686	3	FBXO22	15	76222260	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	459217	76222260	26309132	357	5744											
TMC3	342125	genome.wustl.edu	37	chr15	81644086	81644086	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcgactgctccagcttctgGgaccggtccaccacaaagta	9	9	9	14	2	1	0	0	0	1	0	4	2	3	1	4	2	2	3	4	2	2	3	rs61750033		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:81644086G>T	ENST00000359440.5	-	10	1167	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Silent_p.S344S|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCAGCTTCTGGGACCGGTCCA	0.522																																																	0													56	55	55					15																	81644086		1987	4176	6163	SO:0001819	synonymous_variant	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1032C>A	15.37:g.81644086G>T				Silent	SNP	pfam_TMC	p.S344	ENST00000359440.5	37	c.1032	CCDS45324.1	15																																																																																			TMC3	-	NULL	ENSG00000188869		0.522	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	-	0	26	0	G	NM_181841		81644086	-1	tier1	-	no_errors	ENST00000359440	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T	T	81644086	G	T	81644086	2	4	21	1	0	0	0	0	0	0	0	1	16033	1219	43	3		3	TMC3	15	81644086	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5421826	81644086	20887306	358	5745											
TTC23	64927	genome.wustl.edu	37	chr15	99768848	99768848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttttggaacttctttctatGagtgatgctaacagcagcaa	11	14	9	7	0	2	2	0	2	2	0	2	3	2	3	0	1	5	4	0	1	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:99768848G>C	ENST00000394132.2	-	5	887	c.70C>G	c.(70-72)Cat>Gat	p.H24D	TTC23_ENST00000558613.1_Missense_Mutation_p.H24D|TTC23_ENST00000394136.1_Missense_Mutation_p.H24D|TTC23_ENST00000558663.1_Missense_Mutation_p.H24D|TTC23_ENST00000394130.1_Missense_Mutation_p.H24D|TTC23_ENST00000394129.2_Missense_Mutation_p.H24D|TTC23_ENST00000262074.4_Missense_Mutation_p.H24D|TTC23_ENST00000394135.3_Missense_Mutation_p.H24D			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	24										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTCTTTCTATGAGTGATGCTA	0.393																																																	0													148	148	148					15																	99768848		2197	4297	6494	SO:0001583	missense	0				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.70C>G	15.37:g.99768848G>C	ENSP00000377690:p.His24Asp		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	smart_TPR_repeat	p.H24D	ENST00000394132.2	37	c.70	CCDS10379.2	15	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345356	0.05208	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	2.27	0.28462	.	0.361272	0.28927	N	0.013685	T	0.15132	0.0365	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19386	-1.0307	10	0.14656	T	0.56	-5.8102	4.7418	0.13015	0.1252:0.0:0.5328:0.342	.	24;24	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	D	24	ENSP00000377690:H24D;ENSP00000377693:H24D;ENSP00000262074:H24D;ENSP00000377692:H24D;ENSP00000377688:H24D;ENSP00000457901:H24D	ENSP00000262074:H24D	H	-	1	0	TTC23	97586371	0.022000	0.18835	0.006000	0.13384	0.111000	0.19643	0.574000	0.23714	0.690000	0.31570	-0.122000	0.15005	CAT	TTC23	-	NULL	ENSG00000103852		0.393	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23	HGNC	protein_coding	OTTHUMT00000303953.2	-	0	55	0	G	NM_022905		99768848	-1	tier1	-	no_errors	ENST00000262074	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.006	C	C	99768848	G	C	99768848	3	2	21	1	0	0	0	0	1	0	0	0	16739	1290	45	5	1313	5	TTC23	15	99768848	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	18124762	99768848	2762544	359	5746											
LRRC28	123355	genome.wustl.edu	37	chr15	99816796	99816796	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagccagaaaaccttgctCagaagcttccaaaccttgtg	12	10	7	12	0	2	2	2	0	0	2	3	2	3	2	4	0	5	2	4	0	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr15:99816796C>G	ENST00000301981.3	+	3	424	c.184C>G	c.(184-186)Cag>Gag	p.Q62E	LRRC28_ENST00000422500.2_Missense_Mutation_p.Q62E|LRRC28_ENST00000331450.5_Missense_Mutation_p.Q62E|LRRC28_ENST00000447360.2_Missense_Mutation_p.Q62E|LRRC28_ENST00000442993.2_Missense_Mutation_p.Q62E|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	62										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			AAACCTTGCTCAGAAGCTTCC	0.259																																																	0													34	37	36					15																	99816796		2183	4273	6456	SO:0001583	missense	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.184C>G	15.37:g.99816796C>G	ENSP00000304923:p.Gln62Glu		A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q62E	ENST00000301981.3	37	c.184	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919504	0.52653	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500;ENST00000442993;ENST00000331450	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.7	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	N	0.03209	-0.39	0.58432	D	0.999997	D;P;D;P	0.59357	0.985;0.593;0.982;0.843	D;B;D;P	0.73708	0.981;0.388;0.968;0.848	T	0.56998	-0.7886	10	0.28530	T	0.3	.	16.4823	0.84161	0.0:1.0:0.0:0.0	.	62;62;62;62	B4DHL3;Q8WUS2;Q86X40-2;Q86X40	.;.;.;LRC28_HUMAN	E	62	ENSP00000304923:Q62E;ENSP00000404520:Q62E;ENSP00000398606:Q62E;ENSP00000404206:Q62E;ENSP00000332035:Q62E	ENSP00000304923:Q62E	Q	+	1	0	LRRC28	97634319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.382000	0.59594	2.675000	0.91044	0.650000	0.86243	CAG	LRRC28	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000168904		0.259	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	-	0	63	0	C	NM_144598		99816796	1	tier1	-	no_errors	ENST00000301981	ensembl	human	known	74_37	missense	8.64	74	7	SNP	1.000	G	G	99816796	C	G	99816796	3	3	21	1	0	0	0	0	1	0	0	0	9017	827	29	5	190	5	LRRC28	15	99816796	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	47948	99816796	2714596	360	5747											
BAIAP3	8938	genome.wustl.edu	37	chr16	1393012	1393012	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacccttgcagctggcCgtgctgtgagtgggtggagc	4	10	16	11	1	1	1	1	1	0	0	1	2	1	2	2	3	4	3	2	3	0	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:1393012C>G	ENST00000324385.5	+	14	1523	c.1365C>G	c.(1363-1365)gcC>gcG	p.A455A	BAIAP3_ENST00000562208.1_Silent_p.A397A|BAIAP3_ENST00000426824.3_Silent_p.A420A|BAIAP3_ENST00000397488.2_Silent_p.A437A|BAIAP3_ENST00000397489.1_Silent_p.A437A|BAIAP3_ENST00000421665.2_Silent_p.A384A|BAIAP3_ENST00000568887.1_Silent_p.A392A	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	455					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCAGCTGGCCGTGCTGTGAG	0.677																																																	0													30	25	26					16																	1393012		2192	4295	6487	SO:0001819	synonymous_variant	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1365C>G	16.37:g.1393012C>G			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A455	ENST00000324385.5	37	c.1365	CCDS10434.1	16																																																																																			BAIAP3	-	NULL	ENSG00000007516		0.677	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	-	0	56	0	C			1393012	1	tier1	-	no_errors	ENST00000324385	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.007	G	G	1393012	C	G	1393012	2	3	21	1	0	0	0	0	0	0	0	1	1305	639	23	5		5	BAIAP3	16	1393012	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09		1393012	88961741	361	5748											
TELO2	9894	genome.wustl.edu	37	chr16	1549238	1549238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgtcttgcaggcctgaGgtcctttcgagactgctggg	5	12	13	11	1	2	2	0	1	2	1	4	3	3	2	2	3	2	2	2	3	0	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:1549238G>T	ENST00000262319.6	+	6	1116	c.837G>T	c.(835-837)gaG>gaT	p.E279D		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	279					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGGCCTGAGGTCCTTTCGA	0.602																																																	0													115	107	110					16																	1549238		2199	4300	6499	SO:0001583	missense	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.837G>T	16.37:g.1549238G>T	ENSP00000262319:p.Glu279Asp		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.E279D	ENST00000262319.6	37	c.837	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	G	2.961	-0.214627	0.06101	.	.	ENSG00000100726	ENST00000262319	D	0.84370	-1.84	4.86	-5.33	0.02713	.	0.352642	0.33127	N	0.005254	T	0.67069	0.2854	N	0.25647	0.755	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.55842	-0.8077	10	0.15499	T	0.54	-2.1874	8.1818	0.31315	0.2363:0.1855:0.5781:0.0	.	279	Q9Y4R8	TELO2_HUMAN	D	279	ENSP00000262319:E279D	ENSP00000262319:E279D	E	+	3	2	TELO2	1489239	0.026000	0.19158	0.044000	0.18714	0.032000	0.12392	-1.064000	0.03461	-0.615000	0.05679	-0.379000	0.06801	GAG	TELO2	-	NULL	ENSG00000100726		0.602	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2		0	54	0	G	NM_016111		1549238	1			no_errors	ENST00000262319	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.003	T	T	1549238	G	T	1549238	3	4	21	1	0	0	0	0	1	0	0	0	15804	991	35	3	855	3	TELO2	16	1549238	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	156226	1549238	88805515	362	5749											
ZNF598	90850	genome.wustl.edu	37	chr16	2053040	2053040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaagagctcatgctgcctCcgcatgtgctgctccaggtc	7	9	11	14	1	1	2	1	0	0	2	4	2	3	2	3	1	5	5	3	1	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:2053040C>T	ENST00000563630.1	-	3	494	c.252G>A	c.(250-252)cgG>cgA	p.R84R	ZNF598_ENST00000431526.1_Silent_p.R139R|ZNF598_ENST00000562103.1_Silent_p.R84R			Q86UK7	ZN598_HUMAN	zinc finger protein 598	139							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CATGCTGCCTCCGCATGTGCT	0.677																																																	0													10	14	13					16																	2053040		2025	4158	6183	SO:0001819	synonymous_variant	0			BC029270		16p13.3	2008-05-02				ENSG00000167962		"Zinc fingers, C2H2-type"	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.252G>A	16.37:g.2053040C>T			Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Silent	SNP	superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING	p.R139	ENST00000563630.1	37	c.417		16																																																																																			ZNF598	-	smart_Znf_C2H2-like	ENSG00000167962		0.677	ZNF598-001	NOVEL	basic	protein_coding	ZNF598	HGNC	protein_coding	OTTHUMT00000434439.1		0	17	0	C	NM_178167		2053040	-1			no_errors	ENST00000431526	ensembl	human	known	74_37	silent	55.56	4	5	SNP	1.000	T	T	2053040	C	T	2053040	2	4	21	1	0	0	0	0	0	0	0	1	18076	842	30	3		3	ZNF598	16	2053040	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	503802	2053040	88301713	363	5750											
PKD1	5310	genome.wustl.edu	37	chr16	2139786	2139786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgtcctgctggggccaGtggccaggtccacaccccga	5	6	16	14	1	0	0	0	0	0	0	2	1	2	0	6	6	1	1	6	6	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:2139786G>C	ENST00000262304.4	-	46	13062	c.12854C>G	c.(12853-12855)aCt>aGt	p.T4285S	RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.T4284S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4285					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGGGCCAGTGGCCAGGTC	0.726																																																	0													6	7	7					16																	2139786		1955	4054	6009	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12854C>G	16.37:g.2139786G>C	ENSP00000262304:p.Thr4285Ser		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.T4285S	ENST00000262304.4	37	c.12854	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	5.724	0.318046	0.10845	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.37	4.51	0.0615	0.14341	.	1.235260	0.05842	N	0.619631	T	0.20495	0.0493	N	0.16307	0.4	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.12837	0.008;0.004	T	0.24657	-1.0154	10	0.09084	T	0.74	.	7.7823	0.29072	0.3453:0.0:0.6547:0.0	.	4284;4285	P98161-3;P98161	.;PKD1_HUMAN	S	4285;4284;3619	ENSP00000262304:T4285S;ENSP00000399501:T4284S	ENSP00000262304:T4285S	T	-	2	0	PKD1	2079787	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	0.195000	0.17155	-0.236000	0.09753	0.491000	0.48974	ACT	PKD1	-	NULL	ENSG00000008710		0.726	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1		0	17	0	G			2139786	-1			no_errors	ENST00000262304	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.000	C	C	2139786	G	C	2139786	3	2	21	1	0	0	0	0	1	0	0	0	12002	1029	36	5	61	5	PKD1	16	2139786	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	86746	2139786	88214967	364	5751											
RAB26	25837	genome.wustl.edu	37	chr16	2202871	2202871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgacgtggcgctcatGctgctggggaacaaggtggg	8	6	17	10	3	1	0	1	0	0	0	1	2	1	1	0	5	4	4	0	5	2	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:2202871G>T	ENST00000210187.6	+	6	679	c.519G>T	c.(517-519)atG>atT	p.M173I	SNORD60_ENST00000383903.1_RNA|TRAF7_ENST00000326181.6_5'Flank|RAB26_ENST00000541451.1_Missense_Mutation_p.M107I|RP11-304L19.5_ENST00000563192.1_lincRNA	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	173					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						TGGCGCTCATGCTGCTGGGGA	0.682																																																	0													31	31	31					16																	2202871		2195	4292	6487	SO:0001583	missense	0			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"RAB, member RAS oncogene"	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.519G>T	16.37:g.2202871G>T	ENSP00000210187:p.Met173Ile		B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M173I	ENST00000210187.6	37	c.519	CCDS10460.1	16	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388027	0.42308	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.76186	-1.0;-1.0	3.96	3.96	0.45880	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	N	0.00686	-1.255	0.58432	D	0.999994	B	0.23540	0.087	B	0.36959	0.237	T	0.55042	-0.8202	10	0.35671	T	0.21	.	13.5665	0.61822	0.0:0.0:1.0:0.0	.	173	Q9ULW5	RAB26_HUMAN	I	107;173	ENSP00000441580:M107I;ENSP00000210187:M173I	ENSP00000210187:M173I	M	+	3	0	RAB26	2142872	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.249000	0.95470	2.049000	0.60858	0.313000	0.20887	ATG	RAB26	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000167964		0.682	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB26	HGNC	protein_coding	OTTHUMT00000250767.2	-	0	29	0	G			2202871	1	tier1	-	no_errors	ENST00000210187	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T	T	2202871	G	T	2202871	3	4	21	1	0	0	0	0	1	0	0	0	12958	1319	46	3	541	3	RAB26	16	2202871	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	63085	2202871	88151882	365	5752											
SNX29	92017	genome.wustl.edu	37	chr16	12571616	12571616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaatggaatatttatcGccggtatacagagttcagga	13	11	11	6	3	1	2	1	1	0	1	2	5	1	4	1	3	1	2	1	3	6	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:12571616G>T	ENST00000566228.1	+	19	2147	c.2078G>T	c.(2077-2079)cGc>cTc	p.R693L	SNX29_ENST00000323433.4_Missense_Mutation_p.R308L|SNX29_ENST00000306030.3_Missense_Mutation_p.R308L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	693	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)	p.R308L(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AATATTTATCGCCGGTATACA	0.403																																																	2	Substitution - Missense(2)	lung(2)											70	67	68					16																	12571616		1872	4102	5974	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2078G>T	16.37:g.12571616G>T	ENSP00000456480:p.Arg693Leu		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R308L	ENST00000566228.1	37	c.923	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628264	0.87560	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.66099	-0.19;-0.19	5.73	5.73	0.89815	.	0.066079	0.64402	D	0.000014	D	0.86104	0.5853	H	0.96208	3.785	0.37812	D	0.928098	.	.	.	.	.	.	D	0.91292	0.5060	8	0.87932	D	0	-21.6809	17.3886	0.87424	0.0:0.0:1.0:0.0	.	.	.	.	L	308	ENSP00000306940:R308L;ENSP00000322226:R308L	ENSP00000306940:R308L	R	+	2	0	SNX29	12479117	1.000000	0.71417	0.636000	0.29352	0.710000	0.40934	9.236000	0.95360	2.699000	0.92147	0.655000	0.94253	CGC	SNX29	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000048471		0.403	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1		0	40	0	G			12571616	1			no_errors	ENST00000306030	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.962	T	T	12571616	G	T	12571616	3	4	21	1	0	0	0	0	1	0	0	0	14943	1087	38	2	965	2	SNX29	16	12571616	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10368745	12571616	77783137	366	5753											
DNAH3	55567	genome.wustl.edu	37	chr16	20966359	20966359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactggaaacttctctgatGgatagctggttagccagagt	10	12	12	7	0	1	3	0	2	1	1	2	5	1	5	1	3	3	2	1	3	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:20966359G>A	ENST00000261383.3	-	55	10846	c.10847C>T	c.(10846-10848)cCa>cTa	p.P3616L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3616	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCTCTGATGGATAGCTGGT	0.438																																																	0													96	94	95					16																	20966359		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10847C>T	16.37:g.20966359G>A	ENSP00000261383:p.Pro3616Leu		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.P3616L	ENST00000261383.3	37	c.10847	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232720	0.79688	.	.	ENSG00000158486	ENST00000261383	T	0.09073	3.02	5.43	5.43	0.79202	Dynein heavy chain (1);	0.131543	0.50627	D	0.000120	T	0.48040	0.1478	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68462	-0.5402	10	0.87932	D	0	.	12.5657	0.56308	0.0758:0.0:0.9242:0.0	.	3616	Q8TD57	DYH3_HUMAN	L	3616	ENSP00000261383:P3616L	ENSP00000261383:P3616L	P	-	2	0	DNAH3	20873860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.280000	0.95786	2.543000	0.85770	0.655000	0.94253	CCA	DNAH3	-	pfam_Dynein_heavy_dom	ENSG00000158486		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	23	0	G	NM_017539		20966359	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	A	A	20966359	G	A	20966359	3	1	21	1	0	0	0	0	1	0	0	0	4617	1348	47	3	1534	3	DNAH3	16	20966359	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8394743	20966359	69388394	367	5754											
ABCC12	94160	genome.wustl.edu	37	chr16	48117642	48117642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctctacaatctgacttctGctgctagtaacatcgcaaat	12	12	5	12	1	3	1	0	1	3	0	4	1	3	1	1	0	4	4	1	0	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:48117642G>T	ENST00000311303.3	-	29	4409	c.4064C>A	c.(4063-4065)gCa>gAa	p.A1355E	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'Flank	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1355						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTGACTTCTGCTGCTAGTAA	0.488																																																	0													184	195	191					16																	48117642		2201	4300	6501	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.4064C>A	16.37:g.48117642G>T	ENSP00000311030:p.Ala1355Glu		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A1355E	ENST00000311303.3	37	c.4064	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396670	0.62177	.	.	ENSG00000140798	ENST00000311303	D	0.92048	-2.96	5.5	5.5	0.81552	.	0.062959	0.64402	D	0.000007	D	0.91348	0.7271	L	0.42245	1.32	0.80722	D	1	D	0.61080	0.989	P	0.52031	0.688	D	0.91641	0.5327	10	0.72032	D	0.01	.	11.64	0.51227	0.0824:0.0:0.9176:0.0	.	1355	Q96J65	MRP9_HUMAN	E	1355	ENSP00000311030:A1355E	ENSP00000311030:A1355E	A	-	2	0	ABCC12	46675143	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	6.070000	0.71220	2.555000	0.86185	0.655000	0.94253	GCA	ABCC12	-	NULL	ENSG00000140798		0.488	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0	56	0	G	NM_033226		48117642	-1	tier1	-	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	27.12	43	16	SNP	1.000	T	T	48117642	G	T	48117642	3	4	21	1	0	0	0	0	1	0	0	0	52	1319	46	3	19	3	ABCC12	16	48117642	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	27151283	48117642	42237111	368	5755											
KIFC3	3801	genome.wustl.edu	37	chr16	57798133	57798133	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcaatgcaagaggtGaccagggcctgcacctcctg	11	6	11	13	0	1	2	1	1	0	1	2	2	2	2	5	2	3	2	5	2	3	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:57798133G>T	ENST00000379655.4	-	12	1796	c.1539C>A	c.(1537-1539)gtC>gtA	p.V513V	KIFC3_ENST00000445690.2_Silent_p.V513V|KIFC3_ENST00000541240.1_Silent_p.V535V|KIFC3_ENST00000540079.2_Silent_p.V411V|KIFC3_ENST00000543930.1_Silent_p.V371V|KIFC3_ENST00000562903.1_Silent_p.V374V|KIFC3_ENST00000465878.2_Silent_p.V374V|KIFC3_ENST00000421376.2_Silent_p.V374V|KIFC3_ENST00000539578.1_Silent_p.V455V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	513	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGCAAGAGGTGACCAGGGCCT	0.647																																																	0													54	45	48					16																	57798133		2198	4300	6498	SO:0001819	synonymous_variant	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1539C>A	16.37:g.57798133G>T			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V513	ENST00000379655.4	37	c.1539	CCDS10789.2	16																																																																																			KIFC3	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000140859		0.647	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	-	0	23	0	G	NM_005550		57798133	-1	tier1	-	no_errors	ENST00000379655	ensembl	human	known	74_37	silent	20.00	12	3	SNP	1.000	T	T	57798133	G	T	57798133	2	4	21	1	0	0	0	0	0	0	0	1	8341	1277	45	3		3	KIFC3	16	57798133	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9680491	57798133	32556620	369	5756											
NFATC3	4775	genome.wustl.edu	37	chr16	68217182	68217182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctccatatcataacccaGcagttacagctgcagtgcag	11	10	7	13	0	1	0	1	0	0	0	3	0	3	0	3	0	6	5	3	0	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:68217182G>T	ENST00000346183.3	+	8	2035	c.2011G>T	c.(2011-2013)Gca>Tca	p.A671S	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.A671S|NFATC3_ENST00000329524.4_Missense_Mutation_p.A671S|NFATC3_ENST00000349223.5_Missense_Mutation_p.A671S	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	671					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCATAACCCAGCAGTTACAGC	0.413																																																	0													212	193	200					16																	68217182		2198	4300	6498	SO:0001583	missense	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"Nuclear factor of activated T-cells"	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2011G>T	16.37:g.68217182G>T	ENSP00000300659:p.Ala671Ser		O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.A671S	ENST00000346183.3	37	c.2011	CCDS10860.1	16	.	.	.	.	.	.	.	.	.	.	G	8.177	0.793068	0.16327	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.07327	3.2;3.2;3.2	5.05	1.33	0.21861	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.191497	0.53938	D	0.000042	T	0.03220	0.0094	N	0.05280	-0.08	0.31577	N	0.655625	B;B;B;B	0.10296	0.002;0.003;0.002;0.002	B;B;B;B	0.09377	0.001;0.004;0.001;0.001	T	0.23976	-1.0173	10	0.35671	T	0.21	-0.4293	3.7925	0.08726	0.5386:0.0:0.2908:0.1706	.	671;671;671;671	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	S	671;671;671;192	ENSP00000264008:A671S;ENSP00000300659:A671S;ENSP00000331324:A671S	ENSP00000331324:A671S	A	+	1	0	NFATC3	66774683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.355000	0.34068	0.183000	0.20059	0.563000	0.77884	GCA	NFATC3	-	superfamily_Ig_E-set,smart_IPT	ENSG00000072736		0.413	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC3	HGNC	protein_coding	OTTHUMT00000268890.2	-	0	58	0	G	NM_004555		68217182	1	tier1	-	no_errors	ENST00000346183	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	68217182	G	T	68217182	3	4	21	1	0	0	0	0	1	0	0	0	10403	971	34	3	2041	3	NFATC3	16	68217182	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10419049	68217182	22137571	370	5757											
TMCO7	79613	genome.wustl.edu	37	chr16	68941396	68941396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaggtatcctctgagcaggGccgggtggagcatctcgggg	7	7	18	9	2	2	1	0	1	2	0	4	3	3	2	2	6	2	3	2	6	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:68941396G>T	ENST00000261778.1	+	10	1730	c.1718G>T	c.(1717-1719)gGc>gTc	p.G573V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	573						integral component of membrane (GO:0016021)											TCTGAGCAGGGCCGGGTGGAG	0.483																																																	0													94	95	95					16																	68941396		1889	4104	5993	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1718G>T	16.37:g.68941396G>T	ENSP00000261778:p.Gly573Val		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.G573V	ENST00000261778.1	37	c.1718	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	3.913	-0.019681	0.07634	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.95	2.99	0.34606	Armadillo-type fold (1);	0.513117	0.26684	N	0.023025	T	0.28863	0.0716	N	0.22421	0.69	0.30602	N	0.76036	B	0.15473	0.013	B	0.16289	0.015	T	0.20009	-1.0288	9	0.17369	T	0.5	0.0059	8.485	0.33065	0.2399:0.0:0.7601:0.0	.	573	Q9C0B7	TMCO7_HUMAN	V	573	.	ENSP00000261778:G573V	G	+	2	0	TMCO7	67498897	1.000000	0.71417	0.709000	0.30452	0.210000	0.24377	2.381000	0.44336	0.866000	0.35629	-0.137000	0.14449	GGC	TANGO6	-	pfam_DUF2435,superfamily_ARM-type_fold	ENSG00000103047		0.483	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2		0	47	0	G	XM_928235.2		68941396	1			no_errors	ENST00000261778	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.688	T	T	68941396	G	T	68941396	3	4	21	1	0	0	0	0	1	0	0	0	16048	1203	42	3	1756	3	TMCO7	16	68941396	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	724214	68941396	21413357	371	5758											
COG4	25839	genome.wustl.edu	37	chr16	70551560	70551560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagctgacgaactttgctgGacacattctcagccaggttg	10	10	10	11	1	1	1	1	1	1	0	2	3	1	2	1	2	4	3	1	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:70551560G>T	ENST00000323786.5	-	3	359	c.338C>A	c.(337-339)tCc>tAc	p.S113Y	COG4_ENST00000564653.1_Missense_Mutation_p.S113Y|COG4_ENST00000393612.4_Missense_Mutation_p.S109Y	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	109	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AACTTTGCTGGACACATTCTC	0.438																																																	0													149	132	138					16																	70551560		2198	4300	6498	SO:0001583	missense	0			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.338C>A	16.37:g.70551560G>T	ENSP00000315775:p.Ser113Tyr		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.S113Y	ENST00000323786.5	37	c.338	CCDS10892.2	16	.	.	.	.	.	.	.	.	.	.	g	25.7	4.662698	0.88251	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.47528	0.84;0.84;0.84	5.31	5.31	0.75309	.	0.085834	0.85682	D	0.000000	T	0.70325	0.3211	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.74902	-0.3506	10	0.87932	D	0	-10.6541	13.6887	0.62533	0.0:0.2822:0.7177:0.0	.	108;109	Q6PIW8;Q9H9E3	.;COG4_HUMAN	Y	113;109;109;36	ENSP00000315775:S113Y;ENSP00000377236:S109Y;ENSP00000461912:S36Y	ENSP00000315775:S113Y	S	-	2	0	COG4	69109061	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	6.611000	0.74183	2.496000	0.84212	0.450000	0.29827	TCC	COG4	-	NULL	ENSG00000103051		0.438	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3		0	16	0	G			70551560	-1			no_errors	ENST00000323786	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	70551560	G	T	70551560	3	4	21	1	0	0	0	0	1	0	0	0	3667	1174	41	3	2099	3	COG4	16	70551560	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1610164	70551560	19803193	372	5759											
MBTPS1	8720	genome.wustl.edu	37	chr16	84132850	84132850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctacttcactgctcttcaGggcacttgaaataaatgaat	12	13	7	9	0	4	2	2	2	2	0	4	2	4	2	0	1	2	2	0	1	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:84132850G>T	ENST00000343411.3	-	3	724	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	77					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGCTCTTCAGGGCACTTGAA	0.343																																																	0													107	96	100					16																	84132850		2200	4300	6500	SO:0001583	missense	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.229C>A	16.37:g.84132850G>T	ENSP00000344223:p.Leu77Met		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.L77M	ENST00000343411.3	37	c.229	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307590	0.81247	.	.	ENSG00000140943	ENST00000343411	T	0.52754	0.65	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.72207	-0.4360	10	0.72032	D	0.01	-15.4681	14.9298	0.70906	0.0705:0.0:0.9295:0.0	.	77	Q14703	MBTP1_HUMAN	M	77	ENSP00000344223:L77M	ENSP00000344223:L77M	L	-	1	2	MBTPS1	82690351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.047000	0.49854	2.670000	0.90874	0.650000	0.86243	CTG	MBTPS1	-	NULL	ENSG00000140943		0.343	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	-	0	57	0	G	NM_003791		84132850	-1	tier1	-	no_errors	ENST00000343411	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	T	T	84132850	G	T	84132850	3	4	21	1	0	0	0	0	1	0	0	0	9399	991	35	3	3013	3	MBTPS1	16	84132850	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	13581290	84132850	6221903	373	5760											
ZDHHC7	55625	genome.wustl.edu	37	chr16	85012850	85012850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacacaattgttcacccacGggcagtgatgatccattttc	10	12	7	12	1	1	2	1	2	0	0	3	2	2	2	2	1	1	2	2	1	2	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr16:85012850G>T	ENST00000313732.4	-	5	834	c.482C>A	c.(481-483)cCg>cAg	p.P161Q	ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.P198Q	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	161					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						GTTCACCCACGGGCAGTGATG	0.328																																																	0													101	101	101					16																	85012850		2199	4300	6499	SO:0001583	missense	0			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.482C>A	16.37:g.85012850G>T	ENSP00000315604:p.Pro161Gln		D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P198Q	ENST00000313732.4	37	c.593	CCDS10950.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999630	0.74818	.	.	ENSG00000153786	ENST00000313732;ENST00000344861	T;T	0.34275	1.37;1.37	5.41	5.41	0.78517	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	H	0.95294	3.65	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.77004	0.967;0.989	T	0.81701	-0.0813	10	0.87932	D	0	-4.8092	18.2113	0.89871	0.0:0.0:1.0:0.0	.	198;161	Q9NXF8-2;Q9NXF8	.;ZDHC7_HUMAN	Q	161;198	ENSP00000315604:P161Q;ENSP00000341681:P198Q	ENSP00000315604:P161Q	P	-	2	0	ZDHHC7	83570351	1.000000	0.71417	0.990000	0.47175	0.442000	0.32017	9.670000	0.98625	2.530000	0.85305	0.655000	0.94253	CCG	ZDHHC7	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000153786		0.328	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1	-	0	31	0	G	NM_017740		85012850	-1	tier1	-	no_errors	ENST00000344861	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	85012850	G	T	85012850	3	4	21	1	0	0	0	0	1	0	0	0	17668	1116	39	2	460	2	ZDHHC7	16	85012850	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	880000	85012850	5341903	374	5761											
SMYD4	114826	genome.wustl.edu	37	chr17	1703288	1703288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagctgagaggagttcacaAtcctctcagttgggatggcc	10	10	12	9	0	2	1	2	1	1	1	4	4	3	3	2	3	1	3	2	3	2	3	rs534023803	byFrequency	TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:1703288A>G	ENST00000305513.7	-	5	1567	c.1400T>C	c.(1399-1401)aTt>aCt	p.I467T		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	467	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GGAGTTCACAATCCTCTCAGT	0.498													A|||	16	0.00319489	0	0	5008	,	,		20403	0.001		0	False		,,,				2504	0.0153																0													103	80	88					17																	1703288		2203	4300	6503	SO:0001583	missense	0			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.1400T>C	17.37:g.1703288A>G	ENSP00000304360:p.Ile467Thr		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.I467T	ENST00000305513.7	37	c.1400	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	a	4.793	0.147376	0.09134	.	.	ENSG00000186532	ENST00000305513	T	0.09630	2.96	5.25	-10.5	0.00291	SET domain (2);	20.420000	0.02051	U	0.050095	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.04013	0.001	T	0.30387	-0.9980	10	0.22706	T	0.39	.	1.8358	0.03139	0.1498:0.2013:0.2956:0.3533	.	467	Q8IYR2	SMYD4_HUMAN	T	467	ENSP00000304360:I467T	ENSP00000304360:I467T	I	-	2	0	SMYD4	1650038	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.404000	0.02494	-1.795000	0.01255	-1.625000	0.00788	ATT	SMYD4	-	pfam_SET_dom	ENSG00000186532		0.498	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4	-	0	41	0	A	XM_056082		1703288	-1	tier1	-	no_errors	ENST00000305513	ensembl	human	known	74_37	missense	34.09	29	15	SNP	0.000	G	G	1703288	A	G	1703288	3	3	21	1	0	0	0	0	1	0	0	0	14869	101	4	4	1042	4	SMYD4	17	1703288	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09		1703288	79491922	375	5762											
POLR2A	5430	genome.wustl.edu	37	chr17	7416403	7416403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagccccgctctcctggggGctacacaccccagagtccct	6	6	10	19	2	1	1	0	0	1	1	3	2	2	1	6	2	2	2	6	2	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:7416403G>T	ENST00000322644.6	+	29	5219	c.4820G>T	c.(4819-4821)gGc>gTc	p.G1607V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1607	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.G1607V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCTCCTGGGGGCTACACACCC	0.577																																																	1	Substitution - Missense(1)	endometrium(1)											234	241	239					17																	7416403		2203	4300	6503	SO:0001583	missense	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4820G>T	17.37:g.7416403G>T	ENSP00000314949:p.Gly1607Val		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.G1607V	ENST00000322644.6	37	c.4820	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848175	0.51164	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.71817	-0.6	3.93	3.93	0.45458	.	0.366839	0.19849	N	0.104663	T	0.60457	0.2270	N	0.22421	0.69	0.80722	D	1	P	0.34562	0.457	B	0.38156	0.266	T	0.62220	-0.6900	10	0.37606	T	0.19	-13.8057	15.2975	0.73922	0.0:0.0:1.0:0.0	.	1607	P24928	RPB1_HUMAN	V	1563;506;1607	ENSP00000314949:G1607V	ENSP00000314949:G1607V	G	+	2	0	SLC35G6	7357127	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.556000	0.67307	2.190000	0.69967	0.456000	0.33151	GGC	POLR2A	-	NULL	ENSG00000181222		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	-	0	82	0	G	NM_000937		7416403	1	tier1	-	no_errors	ENST00000322644	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	7416403	G	T	7416403	3	4	21	1	0	0	0	0	1	0	0	0	12253	1203	42	3	4934	3	POLR2A	17	7416403	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5713115	7416403	73778807	376	5763											
TP53	7157	genome.wustl.edu	37	chr17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgcgccggtctctcccagGacaggcacaaacacgcacct	9	6	10	16	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0	rs17849781		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTCTCCCAGGACAGGCACAA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(1)|prostate(1)	GRCh37	CM011015|CM052927	TP53	M	rs17849781						72	62	65					17																	7577106		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278S	ENST00000269305.4	37	c.832	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	350	0	G	NM_000546		7577106	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	27.54	171	65	SNP	1.000	A	A	7577106	G	A	7577106	3	1	21	1	0	0	0	0	1	0	0	0	16429	1174	41	3	454	3	TP53	17	7577106	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	160703	7577106	73618104	377	5764											
PIK3R6	146850	genome.wustl.edu	37	chr17	8731963	8731963	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccgggctgtgtgcagccGggacacgccgggcagcattt	6	7	15	13	4	0	0	0	0	0	0	0	1	0	1	3	3	4	4	3	3	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:8731963G>T	ENST00000311434.9	-	11	1473	c.1234C>A	c.(1234-1236)Cgg>Agg	p.R412R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	412					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GTGTGCAGCCGGGACACGCCG	0.706																																																	0													16	18	18					17																	8731963		1927	4093	6020	SO:0001819	synonymous_variant	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1234C>A	17.37:g.8731963G>T			Q658R3	Silent	SNP	pfam_PI3K_1B_gamma_p101_su	p.R412	ENST00000311434.9	37	c.1234		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.706	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0	12	0	G	NM_001010855		8731963	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	silent	44.44	5	4	SNP	0.777	T	T	8731963	G	T	8731963	2	4	21	1	0	0	0	0	0	0	0	1	11962	1115	39	2		2	PIK3R6	17	8731963	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1154857	8731963	72463247	378	5765											
MYH8	4626	genome.wustl.edu	37	chr17	10299898	10299898	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttattttctcttcttagCgtttcgagttgatccaggga	6	19	8	8	2	3	1	0	1	3	0	6	3	4	2	1	1	1	2	1	1	2	8	rs146773971		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:10299898C>G	ENST00000403437.2	-	32	4594	c.4500G>C	c.(4498-4500)acG>acC	p.T1500T	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1500					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTTCTTAGCGTTTCGAGTT	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													85	87	86					17																	10299898		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4500G>C	17.37:g.10299898C>G			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1500	ENST00000403437.2	37	c.4500	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail,superfamily_t-SNARE	ENSG00000133020		0.478	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2		0	45	0	C	NM_002472		10299898	-1			no_errors	ENST00000403437	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.010	G	G	10299898	C	G	10299898	2	3	21	1	0	0	0	0	0	0	0	1	10079	755	27	5		5	MYH8	17	10299898	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1567935	10299898	70895312	379	5766											
MYH4	4622	genome.wustl.edu	37	chr17	10355270	10355270	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaccttggctttggaGacagtctccatgttactagc	10	12	10	9	0	1	3	0	1	1	2	2	4	1	3	2	2	2	2	2	2	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:10355270G>T	ENST00000255381.2	-	27	3836	c.3726C>A	c.(3724-3726)gtC>gtA	p.V1242V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1242					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCTTTGGAGACAGTCTCCA	0.398																																																	0													132	108	116					17																	10355270		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3726C>A	17.37:g.10355270G>T				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1242	ENST00000255381.2	37	c.3726	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000264424		0.398	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0	74	0	G	NM_017533		10355270	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	10355270	G	T	10355270	2	4	21	1	0	0	0	0	0	0	0	1	10075	929	33	3		3	MYH4	17	10355270	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	55372	10355270	70839940	380	5767											
MYH2	4620	genome.wustl.edu	37	chr17	10429074	10429074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgtcctctccacatcaAgcatgaggtcctcgacctca	9	11	6	15	1	3	1	2	1	1	0	7	2	5	1	4	1	1	1	4	1	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:10429074A>G	ENST00000245503.5	-	31	4691	c.4307T>C	c.(4306-4308)cTt>cCt	p.L1436P	MYH2_ENST00000397183.2_Missense_Mutation_p.L1436P|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1436					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCACATCAAGCATGAGGTC	0.507																																																	0													97	89	92					17																	10429074		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4307T>C	17.37:g.10429074A>G	ENSP00000245503:p.Leu1436Pro		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1436P	ENST00000245503.5	37	c.4307	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364938	0.82463	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.87412	-2.25;-2.25	4.9	4.9	0.64082	Myosin tail (1);	0.621647	0.11740	U	0.534138	D	0.92061	0.7484	M	0.78801	2.425	0.80722	D	1	B	0.33583	0.418	P	0.48552	0.581	D	0.90832	0.4717	10	0.87932	D	0	.	14.6913	0.69087	1.0:0.0:0.0:0.0	.	1436	Q9UKX2	MYH2_HUMAN	P	1436	ENSP00000245503:L1436P;ENSP00000380367:L1436P	ENSP00000245503:L1436P	L	-	2	0	MYH2	10369799	1.000000	0.71417	0.915000	0.36163	0.897000	0.52465	9.139000	0.94554	2.068000	0.61886	0.260000	0.18958	CTT	MYH2	-	pfam_Myosin_tail	ENSG00000125414		0.507	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3		0	58	0	A	NM_017534		10429074	-1			no_errors	ENST00000245503	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.998	G	G	10429074	A	G	10429074	3	3	21	1	0	0	0	0	1	0	0	0	10073	72	3	4	1558	4	MYH2	17	10429074	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	73804	10429074	70766136	381	5768											
DNAH9	1770	genome.wustl.edu	37	chr17	11809063	11809063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgaagaatcgggaccaGccactcctatgtttttcatc	10	13	7	11	1	1	2	1	1	0	1	4	3	2	3	3	1	1	1	3	1	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:11809063G>T	ENST00000262442.4	+	61	11754	c.11686G>T	c.(11686-11688)Gcc>Tcc	p.A3896S	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.A3896S|DNAH9_ENST00000608377.1_Missense_Mutation_p.A208S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3896	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A3896T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCGGGACCAGCCACTCCTAT	0.473																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											69	69	69					17																	11809063		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11686G>T	17.37:g.11809063G>T	ENSP00000262442:p.Ala3896Ser		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A3896S	ENST00000262442.4	37	c.11686	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450231	0.26074	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.07567	3.18;3.18;3.18	4.81	3.78	0.43462	Dynein heavy chain (1);	0.053373	0.85682	N	0.000000	T	0.04272	0.0118	N	0.11154	0.105	0.52099	D	0.999947	B;B	0.16396	0.016;0.017	B;B	0.28305	0.088;0.088	T	0.31280	-0.9949	10	0.07482	T	0.82	.	8.4451	0.32836	0.0788:0.0:0.7336:0.1876	.	249;3896	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	S	3896;3896;2478;208;249	ENSP00000262442:A3896S;ENSP00000414874:A3896S;ENSP00000379323:A208S	ENSP00000262442:A3896S	A	+	1	0	DNAH9	11749788	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.194000	0.51005	1.214000	0.43395	0.655000	0.94253	GCC	DNAH9	-	pfam_Dynein_heavy_dom	ENSG00000007174		0.473	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	55	0	G	NM_001372		11809063	1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	11809063	G	T	11809063	3	4	21	1	0	0	0	0	1	0	0	0	4622	971	34	3	11928	3	DNAH9	17	11809063	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1379989	11809063	69386147	382	5769											
ZNF18	7566	genome.wustl.edu	37	chr17	11881932	11881932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcatcctggctcatccTcagtgaagaagcccctcaag	12	7	8	14	0	3	2	3	1	0	1	5	2	5	2	4	1	2	2	4	1	4	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:11881932T>C	ENST00000322748.3	-	9	1596	c.992A>G	c.(991-993)gAg>gGg	p.E331G	RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Missense_Mutation_p.E331G|ZNF18_ENST00000454073.3_Missense_Mutation_p.E330G	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	331					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TGGCTCATCCTCAGTGAAGAA	0.517																																																	0													132	141	138					17																	11881932		2203	4300	6503	SO:0001583	missense	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.992A>G	17.37:g.11881932T>C	ENSP00000315664:p.Glu331Gly		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E331G	ENST00000322748.3	37	c.992	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554392	0.45487	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.07444	3.19	5.39	4.24	0.50183	.	0.110989	0.40222	N	0.001143	T	0.05823	0.0152	N	0.24115	0.695	0.20873	N	0.999838	B;B	0.28850	0.225;0.144	B;B	0.21151	0.033;0.015	T	0.29088	-1.0023	10	0.66056	D	0.02	-11.3354	9.6913	0.40129	0.1555:0.0:0.0:0.8445	.	330;331	P17022-2;P17022	.;ZNF18_HUMAN	G	331	ENSP00000315664:E331G	ENSP00000315664:E331G	E	-	2	0	ZNF18	11822657	0.001000	0.12720	0.145000	0.22337	0.793000	0.44817	0.430000	0.21428	2.161000	0.67846	0.455000	0.32223	GAG	ZNF18	-	NULL	ENSG00000154957		0.517	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	-	0	56	0	T	XM_085596		11881932	-1	tier1	-	no_errors	ENST00000322748	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.510	C	C	11881932	T	C	11881932	3	2	21	1	0	0	0	0	1	0	0	0	17795	1551	54	4	661	4	ZNF18	17	11881932	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	72869	11881932	69313278	383	5770											
PMP22	5376	genome.wustl.edu	37	chr17	15142816	15142816	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggaagattccagtgatGtaaaacctgccccccttggt	10	12	9	10	0	0	2	0	1	0	1	1	3	1	3	5	2	2	1	5	2	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:15142816G>T	ENST00000395938.2	-	4	485	c.291C>A	c.(289-291)taC>taA	p.Y97*	PMP22_ENST00000395936.1_Nonsense_Mutation_p.Y97*|PMP22_ENST00000312280.3_Nonsense_Mutation_p.Y97*|PMP22_ENST00000494511.1_Missense_Mutation_p.H38N|PMP22_ENST00000426385.3_Nonsense_Mutation_p.Y97*|snoU13_ENST00000458745.1_RNA	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	97					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TTCCAGTGATGTAAAACCTGC	0.483																																																	0													127	107	114					17																	15142816		2203	4300	6503	SO:0001587	stop_gained	0			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.291C>A	17.37:g.15142816G>T	ENSP00000379269:p.Tyr97*		Q8WV01	Nonsense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20	p.Y97*	ENST00000395938.2	37	c.291	CCDS11168.1	17	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674533	0.88445	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	.	.	.	5.76	3.44	0.39384	.	0.114062	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.0425	10.856	0.46800	0.2273:0.0:0.7727:0.0	.	.	.	.	X	97	.	ENSP00000308937:Y97X	Y	-	3	2	PMP22	15083541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.006000	0.57083	1.446000	0.47643	0.655000	0.94253	TAC	PMP22	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20	ENSG00000109099		0.483	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	HGNC	protein_coding	OTTHUMT00000130378.1	-	0	76	0	G	NM_000304		15142816	-1	tier1	-	no_errors	ENST00000312280	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	15142816	G	T	15142816	4	4	21	1	0	0	0	0	0	1	0	0	12178	1372	48	3	199	3	PMP22	17	15142816	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3260884	15142816	66052394	384	5771											
KIAA0100	9703	genome.wustl.edu	37	chr17	26945891	26945891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcgccaccgtgcctgaGcaaagtaaaactcagtgcga	12	6	11	12	3	2	1	2	1	0	0	2	2	2	1	3	1	4	2	3	1	3	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:26945891G>T	ENST00000528896.2	-	32	5815	c.5741C>A	c.(5740-5742)gCt>gAt	p.A1914D	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000579924.2_5'UTR|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.A1771D|KIAA0100_ENST00000389003.3_Missense_Mutation_p.A1771D	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1914						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCGTGCCTGAGCAAAGTAAAA	0.502																																																	0													133	111	119					17																	26945891		2203	4300	6503	SO:0001583	missense	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5741C>A	17.37:g.26945891G>T	ENSP00000436773:p.Ala1914Asp		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.A1914D	ENST00000528896.2	37	c.5741	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923867	0.92319	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.37752	1.18;1.18	5.36	5.36	0.76844	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	N	0.25647	0.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14200	-1.0481	10	0.07030	T	0.85	.	18.6657	0.91489	0.0:0.0:1.0:0.0	.	1914	Q14667	K0100_HUMAN	D	1914;1884;1914;1771	ENSP00000436773:A1914D;ENSP00000446443:A1771D	ENSP00000005905:A1914D	A	-	2	0	KIAA0100	23970018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.153000	0.94687	2.518000	0.84900	0.655000	0.94253	GCT	KIAA0100	-	pfam_FMP27_C	ENSG00000007202		0.502	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	-	0	36	0	G	NM_014680		26945891	-1	tier1	-	no_errors	ENST00000528896	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	26945891	G	T	26945891	3	4	21	1	0	0	0	0	1	0	0	0	8181	971	34	3	998	3	KIAA0100	17	26945891	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	11803075	26945891	54249319	385	5772											
KIAA0100	9703	genome.wustl.edu	37	chr17	26966978	26966978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttgctgtgaagcttcgaAggggcagctgatcctcatca	9	11	12	9	1	2	2	2	2	0	0	4	3	3	2	1	2	3	5	1	2	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:26966978A>C	ENST00000528896.2	-	9	1030	c.956T>G	c.(955-957)cTt>cGt	p.L319R	KIAA0100_ENST00000544884.1_Missense_Mutation_p.L176R|KIAA0100_ENST00000389003.3_Missense_Mutation_p.L176R	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	319						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAAGCTTCGAAGGGGCAGCTG	0.547																																																	0													126	120	122					17																	26966978		2203	4300	6503	SO:0001583	missense	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.956T>G	17.37:g.26966978A>C	ENSP00000436773:p.Leu319Arg		A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.L319R	ENST00000528896.2	37	c.956	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	A	26.8	4.775819	0.90195	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.54071	0.59;0.71	5.72	5.72	0.89469	FMP27, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.998	T	0.66709	-0.5855	10	0.66056	D	0.02	.	16.0037	0.80327	1.0:0.0:0.0:0.0	.	176;319;319	Q14667-4;F6XS94;Q14667	.;.;K0100_HUMAN	R	319;319;319;176	ENSP00000436773:L319R;ENSP00000446443:L176R	ENSP00000005905:L319R	L	-	2	0	KIAA0100	23991105	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	8.087000	0.89521	2.184000	0.69523	0.533000	0.62120	CTT	KIAA0100	-	pfam_FMP27_N	ENSG00000007202		0.547	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3		0	35	0	A	NM_014680		26966978	-1			no_errors	ENST00000528896	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	C	C	26966978	A	C	26966978	3	2	21	1	0	0	0	0	1	0	0	0	8181	72	3	4	5875	4	KIAA0100	17	26966978	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	21087	26966978	54228232	386	5773											
LIG3	3980	genome.wustl.edu	37	chr17	33318055	33318055	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attaagactgtttacaacttGaacgataagcagattgtgaa	16	12	8	5	1	0	4	0	2	0	2	0	5	0	4	0	0	4	2	0	0	6	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:33318055G>C	ENST00000378526.4	+	5	1096	c.963G>C	c.(961-963)ttG>ttC	p.L321F	LIG3_ENST00000262327.5_Missense_Mutation_p.L321F	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	321					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTTACAACTTGAACGATAAGC	0.488								Other BER factors																																									0													128	116	120					17																	33318055		2203	4300	6503	SO:0001583	missense	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.963G>C	17.37:g.33318055G>C	ENSP00000367787:p.Leu321Phe		Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.L321F	ENST00000378526.4	37	c.963	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030402	0.75504	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.23552	1.9;1.9	5.65	4.68	0.58851	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.64402	D	0.000001	T	0.51584	0.1683	M	0.86268	2.805	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.995	T	0.56583	-0.7955	10	0.62326	D	0.03	-12.722	9.4263	0.38581	0.0748:0.1436:0.7816:0.0	.	321;321;321	E5KLB5;P49916;E5KLB6	.;DNLI3_HUMAN;.	F	321	ENSP00000367787:L321F;ENSP00000262327:L321F	ENSP00000262327:L321F	L	+	3	2	LIG3	30342168	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.610000	0.46325	1.621000	0.50320	0.655000	0.94253	TTG	LIG3	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.488	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	-	0	39	0	G	NM_013975		33318055	1	tier1	-	no_errors	ENST00000378526	ensembl	human	known	74_37	missense	27.66	34	13	SNP	1.000	C	C	33318055	G	C	33318055	3	2	21	1	0	0	0	0	1	0	0	0	8811	1281	45	5	977	5	LIG3	17	33318055	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	6351077	33318055	47877155	387	5774											
SYNRG	11276	genome.wustl.edu	37	chr17	35902238	35902238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcgttcggggtttcttgaGaggcaccactggacgctggg	6	11	15	9	3	1	1	0	1	1	1	3	3	1	2	1	5	0	4	1	5	0	4	rs372539300		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:35902238G>C	ENST00000339208.6	-	15	3178	c.3038C>G	c.(3037-3039)tCt>tGt	p.S1013C	SYNRG_ENST00000345615.4_Missense_Mutation_p.S935C|SYNRG_ENST00000585472.1_Missense_Mutation_p.S934C|SYNRG_ENST00000502449.2_Missense_Mutation_p.S890C|SYNRG_ENST00000394378.2_Missense_Mutation_p.S935C|SYNRG_ENST00000346661.4_Missense_Mutation_p.S1013C|SYNRG_ENST00000591288.1_Missense_Mutation_p.S807C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1013					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTTCTTGAGAGGCACCACT	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		18520	0		0	False		,,,				2504	0																0								G	CYS/SER,CYS/SER,CYS/SER,CYS/SER,CYS/SER,CYS/SER,CYS/SER	1,4405	2.1+/-5.4	0,1,2202	78	81	80		2804,2801,2669,2420,3038,2804,2804	6	0.8	17		80	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	SYNRG	NM_001163544.1,NM_001163545.1,NM_001163546.1,NM_001163547.1,NM_007247.4,NM_080550.3,NM_198882.1	112,112,112,112,112,112,112	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	935/1237,934/1236,890/1180,807/1109,1013/1315,935/1225,935/1260	35902238	1,13005	2203	4300	6503	SO:0001583	missense	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3038C>G	17.37:g.35902238G>C	ENSP00000343610:p.Ser1013Cys		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.S1013C	ENST00000339208.6	37	c.3038	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490867	0.84962	2.27E-4	0.0	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.53423	1.2;0.81;0.62	6.02	6.02	0.97574	.	0.056444	0.64402	D	0.000001	T	0.66056	0.2751	L	0.53249	1.67	0.54753	D	0.999983	B;D;D;D;D;D	0.76494	0.078;0.998;0.998;0.998;0.999;0.999	B;D;D;D;D;D	0.68353	0.057;0.922;0.922;0.922;0.957;0.957	T	0.65298	-0.6202	10	0.72032	D	0.01	-16.9694	19.5352	0.95251	0.0:0.0:1.0:0.0	.	807;935;935;935;1013;1013	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	C	1013;807;1013;935;935	ENSP00000005279:S1013C;ENSP00000343610:S807C;ENSP00000377903:S935C	ENSP00000343610:S807C	S	-	2	0	SYNRG	32976351	1.000000	0.71417	0.783000	0.31826	0.911000	0.54048	6.481000	0.73608	2.850000	0.98022	0.650000	0.86243	TCT	SYNRG	-	NULL	ENSG00000006114		0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	-	0	40	0	G	NM_007247		35902238	-1	tier1	-	no_errors	ENST00000339208	ensembl	human	known	74_37	missense	32.81	43	21	SNP	0.937	C	C	35902238	G	C	35902238	3	2	21	1	0	0	0	0	1	0	0	0	15507	942	33	5	1011	5	SYNRG	17	35902238	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2584183	35902238	45292972	388	5775											
DDX52	11056	genome.wustl.edu	37	chr17	36002238	36002238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcttctgatgtgtttGtgatgctccacacacacctg	6	14	11	10	0	1	2	0	2	1	0	2	2	2	2	2	2	1	3	2	2	0	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:36002238G>T	ENST00000349699.2	-	2	230	c.187C>A	c.(187-189)Caa>Aaa	p.Q63K	DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586950.1_RNA|RP11-697E22.2_ENST00000586163.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	63						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TGATGTGTTTGTGATGCTCCA	0.438																																																	0													140	138	139					17																	36002238		2203	4300	6503	SO:0001583	missense	0			AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"DEAD-boxes"	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.187C>A	17.37:g.36002238G>T	ENSP00000268854:p.Gln63Lys		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q63K	ENST00000349699.2	37	c.187	CCDS11323.1	17	.	.	.	.	.	.	.	.	.	.	G	6.875	0.530834	0.13127	.	.	ENSG00000141141	ENST00000349699	T	0.12984	2.63	5.17	-2.01	0.07410	.	4.808940	0.00357	N	0.000020	T	0.10637	0.0260	L	0.40543	1.245	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.36578	-0.9742	10	0.02654	T	1	.	8.5953	0.33712	0.0:0.5382:0.2157:0.2461	.	63	Q9Y2R4	DDX52_HUMAN	K	63	ENSP00000268854:Q63K	ENSP00000268854:Q63K	Q	-	1	0	DDX52	33076351	0.000000	0.05858	0.000000	0.03702	0.792000	0.44763	-0.500000	0.06405	-0.291000	0.09012	0.491000	0.48974	CAA	DDX52	-	NULL	ENSG00000141141		0.438	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX52	HGNC	protein_coding	OTTHUMT00000256795.1	-	0	58	0	G	NM_152300		36002238	-1	tier1	-	no_errors	ENST00000349699	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.000	T	T	36002238	G	T	36002238	3	4	21	1	0	0	0	0	1	0	0	0	4379	1386	48	3	1668	3	DDX52	17	36002238	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	100000	36002238	45192972	389	5776											
PSMB3	5691	genome.wustl.edu	37	chr17	36909465	36909465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaagaactgtgtggccatCgctgcagacaggcgcttcgg	8	7	16	10	3	0	2	0	0	0	2	2	3	0	3	1	4	2	3	1	4	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:36909465C>T	ENST00000225426.4	+	2	157	c.66C>T	c.(64-66)atC>atT	p.I22I	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						GTGTGGCCATCGCTGCAGACA	0.612																																																	0													52	46	48					17																	36909465		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.66C>T	17.37:g.36909465C>T			P31147|Q0P6J7|Q96E27	Silent	SNP	pfam_Proteasome_sua/b	p.I22	ENST00000225426.4	37	c.66	CCDS11328.1	17																																																																																			PSMB3	-	pfam_Proteasome_sua/b	ENSG00000108294		0.612	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	HGNC	protein_coding	OTTHUMT00000256810.2	-	0	59	0	C	NM_002795		36909465	1	tier1	-	no_errors	ENST00000225426	ensembl	human	known	74_37	silent	16.67	30	6	SNP	1.000	T	T	36909465	C	T	36909465	2	4	21	1	0	0	0	0	0	0	0	1	12720	874	31	1		1	PSMB3	17	36909465	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	907227	36909465	44285745	390	5777											
STAC2	342667	genome.wustl.edu	37	chr17	37381698	37381698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagggcggagacggtccctgGggggctgtgggtggccgcgt	3	6	23	9	4	0	1	0	0	0	1	1	3	1	1	2	8	0	1	2	8	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:37381698G>T	ENST00000333461.5	-	1	427	c.58C>A	c.(58-60)Cca>Aca	p.P20T		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	20					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						ACGGTCCCTGGGGGGCTGTGG	0.706																																																	0													62	52	55					17																	37381698		2203	4300	6503	SO:0001583	missense	0			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.58C>A	17.37:g.37381698G>T	ENSP00000327509:p.Pro20Thr		Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.P20T	ENST00000333461.5	37	c.58	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	g	13.33	2.205928	0.39003	.	.	ENSG00000141750	ENST00000333461	T	0.80393	-1.37	5.42	4.43	0.53597	.	0.000000	0.48767	D	0.000165	T	0.72137	0.3423	L	0.46157	1.445	0.28247	N	0.925434	P	0.34522	0.455	B	0.26310	0.068	T	0.69154	-0.5220	10	0.66056	D	0.02	-15.7642	11.9918	0.53180	0.0:0.1746:0.8254:0.0	.	20	Q6ZMT1	STAC2_HUMAN	T	20	ENSP00000327509:P20T	ENSP00000327509:P20T	P	-	1	0	STAC2	34635224	1.000000	0.71417	0.996000	0.52242	0.515000	0.34225	2.069000	0.41481	1.259000	0.44117	0.455000	0.32223	CCA	STAC2	-	NULL	ENSG00000141750		0.706	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	-	0	47	0	G	NM_198993		37381698	-1	tier1	-	no_errors	ENST00000333461	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.997	T	T	37381698	G	T	37381698	3	4	21	1	0	0	0	0	1	0	0	0	15287	1232	43	3	1221	3	STAC2	17	37381698	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	472233	37381698	43813512	391	5778											
KPNB1	3837	genome.wustl.edu	37	chr17	45750492	45750492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccagaaaacgactttGgtcatcatggaacgactgca	12	9	10	10	2	2	1	2	0	0	1	3	4	3	2	1	2	3	2	1	2	3	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:45750492G>T	ENST00000290158.4	+	13	2063	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	KPNB1_ENST00000540627.1_Missense_Mutation_p.L407F|KPNB1_ENST00000537679.1_Missense_Mutation_p.L336F|KPNB1_ENST00000535458.2_Missense_Mutation_p.L407F	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	552					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L552F(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAACGACTTTGGTCATCATGG	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											125	119	121					17																	45750492		2203	4300	6503	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1656G>T	17.37:g.45750492G>T	ENSP00000290158:p.Leu552Phe		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.L552F	ENST00000290158.4	37	c.1656	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.52	-2.18	0.07037	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	L	0.50333	1.59	0.38797	D	0.955109	P;P	0.46784	0.884;0.776	B;B	0.40782	0.34;0.198	T	0.60301	-0.7290	9	0.56958	D	0.05	-16.5928	7.3697	0.26794	0.4933:0.1129:0.3938:0.0	.	336;552	F5H4R7;Q14974	.;IMB1_HUMAN	F	407;552;407;336	ENSP00000438253:L407F;ENSP00000290158:L552F;ENSP00000438964:L407F;ENSP00000445006:L336F	ENSP00000290158:L552F	L	+	3	2	KPNB1	43105491	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	1.490000	0.35573	-0.010000	0.14271	0.655000	0.94253	TTG	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.463	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	-	0	74	0	G	NM_002265		45750492	1	tier1	-	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.952	T	T	45750492	G	T	45750492	3	4	21	1	0	0	0	0	1	0	0	0	8462	1339	47	3	1706	3	KPNB1	17	45750492	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8368794	45750492	35444718	392	5779											
MYST2	11143	genome.wustl.edu	37	chr17	47874232	47874232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgaaaaaataccctcttcGgcagactcgttcatctggtt	11	11	7	12	3	3	1	1	0	2	1	5	2	3	1	2	2	1	3	2	2	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:47874232G>T	ENST00000259021.4	+	3	564	c.284G>T	c.(283-285)cGg>cTg	p.R95L	KAT7_ENST00000454930.2_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.R95L|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R95L|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000503935.2_5'UTR	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	95					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TACCCTCTTCGGCAGACTCGT	0.488																																																	0													162	163	163					17																	47874232		2203	4300	6503	SO:0001583	missense	0			AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17016	protein-coding gene	gene with protein product	"histone acetyltransferase binding to ORC1"	609880	"MYST histone acetyltransferase 2"	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.284G>T	17.37:g.47874232G>T	ENSP00000259021:p.Arg95Leu		B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_C2HC,superfamily_Acyl_CoA_acyltransferase	p.R95L	ENST00000259021.4	37	c.284	CCDS11554.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.539268	0.96474	.	.	ENSG00000136504	ENST00000259021;ENST00000509773;ENST00000424009	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	L	0.50333	1.59	0.80722	D	1	D;D;D	0.63046	0.987;0.987;0.992	D;D;D	0.70487	0.931;0.931;0.969	T	0.76236	-0.3033	9	0.72032	D	0.01	-12.3726	19.9388	0.97151	0.0:0.0:1.0:0.0	.	95;95;95	B4DFB4;O95251;G5E9K7	.;KAT7_HUMAN;.	L	95	.	ENSP00000259021:R95L	R	+	2	0	KAT7	45229231	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.860000	0.92272	2.815000	0.96918	0.561000	0.74099	CGG	KAT7	-	NULL	ENSG00000136504		0.488	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT7	HGNC	protein_coding	OTTHUMT00000366032.1	-	0	43	0	G	NM_007067		47874232	1	tier1	-	no_errors	ENST00000259021	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	47874232	G	T	47874232	3	4	21	1	0	0	0	0	1	0	0	0	10141	1116	39	2	294	2	MYST2	17	47874232	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2123740	47874232	33320978	393	5780											
CA10	56934	genome.wustl.edu	37	chr17	49710983	49710983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagatctgagatggctggTtctggctgagcaggcgcaag	10	8	16	7	1	2	3	0	2	2	2	2	5	2	3	0	4	1	5	0	4	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:49710983T>G	ENST00000285273.4	-	9	1929	c.818A>C	c.(817-819)aAc>aCc	p.N273T	CA10_ENST00000442502.2_Missense_Mutation_p.N273T|CA10_ENST00000451037.2_Missense_Mutation_p.N273T|CA10_ENST00000571918.1_5'Flank|CA10_ENST00000570565.1_Missense_Mutation_p.N198T|CA10_ENST00000340813.6_Missense_Mutation_p.N279T	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	273					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AGATGGCTGGTTCTGGCTGAG	0.498																																																	0													99	85	90					17																	49710983		2203	4300	6503	SO:0001583	missense	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.818A>C	17.37:g.49710983T>G	ENSP00000285273:p.Asn273Thr		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.N279T	ENST00000285273.4	37	c.836	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	T	19.43	3.825496	0.71143	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.44	4.36	0.52297	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.046280	0.85682	D	0.000000	T	0.68146	0.2969	L	0.33293	1	0.58432	D	0.999991	D;D;B	0.89917	1.0;1.0;0.379	D;D;B	0.97110	1.0;1.0;0.124	T	0.62671	-0.6805	10	0.09338	T	0.73	.	10.4229	0.44361	0.0:0.0767:0.0:0.9233	.	273;279;198	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	T	273;273;273;279	ENSP00000390666:N273T;ENSP00000285273:N273T;ENSP00000405388:N273T;ENSP00000340363:N279T	ENSP00000285273:N273T	N	-	2	0	CA10	47065982	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.884000	0.87274	0.903000	0.36546	0.533000	0.62120	AAC	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000154975		0.498	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	-	0	49	0	T	NM_020178		49710983	-1	tier1	-	no_errors	ENST00000340813	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	G	G	49710983	T	G	49710983	3	3	21	1	0	0	0	0	1	0	0	0	2518	1725	60	4	176	4	CA10	17	49710983	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	1836751	49710983	31484227	394	5781											
EFCAB3	146779	genome.wustl.edu	37	chr17	60493371	60493371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcactgcaggtgaagaGagctactgatacctataatt	12	12	8	9	0	2	3	1	2	1	1	3	4	2	3	1	1	4	2	1	1	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:60493371G>T	ENST00000305286.3	+	10	1076	c.998G>T	c.(997-999)aGa>aTa	p.R333I	EFCAB3_ENST00000450662.2_Missense_Mutation_p.R385I	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	333							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CAGGTGAAGAGAGCTACTGAT	0.428																																																	0													68	69	68					17																	60493371		2203	4300	6503	SO:0001583	missense	0			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"EF-hand domain containing"	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.998G>T	17.37:g.60493371G>T	ENSP00000302649:p.Arg333Ile		J3KQM8	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.R385I	ENST00000305286.3	37	c.1154	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466457	0.63625	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.60920	0.15;0.18	4.48	1.23	0.21249	.	0.295577	0.29444	N	0.012134	T	0.56156	0.1966	L	0.60455	1.87	0.41678	D	0.989279	D	0.54964	0.969	P	0.51806	0.68	T	0.56426	-0.7981	10	0.72032	D	0.01	.	4.3796	0.11288	0.2091:0.1881:0.6028:0.0	.	333	Q8N7B9	EFCB3_HUMAN	I	385;333	ENSP00000403932:R385I;ENSP00000302649:R333I	ENSP00000302649:R333I	R	+	2	0	EFCAB3	57847103	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.426000	0.21363	0.572000	0.29383	0.555000	0.69702	AGA	EFCAB3	-	NULL	ENSG00000172421		0.428	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1		0	39	0	G	NM_173503		60493371	1			no_errors	ENST00000450662	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	60493371	G	T	60493371	3	4	21	1	0	0	0	0	1	0	0	0	4949	942	33	3	1200	3	EFCAB3	17	60493371	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10782388	60493371	20701839	395	5782											
GH2	2689	genome.wustl.edu	37	chr17	61957710	61957710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctgccctccacagagcGgcactgcacgatgcgcagga	10	4	12	15	3	0	1	0	0	0	1	1	3	1	2	2	2	5	4	2	2	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:61957710G>T	ENST00000423893.2	-	5	686	c.625C>A	c.(625-627)Cgc>Agc	p.R209S	GH2_ENST00000456543.2_Silent_p.A207A|GH2_ENST00000449787.2_Missense_Mutation_p.R194S|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	209					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCCACAGAGCGGCACTGCACG	0.607																																																	0													99	84	89					17																	61957710		2202	4279	6481	SO:0001583	missense	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.625C>A	17.37:g.61957710G>T	ENSP00000409294:p.Arg209Ser		B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R209S	ENST00000423893.2	37	c.625	CCDS11647.1	17	.	.	.	.	.	.	.	.	.	.	g	13.15	2.150450	0.37923	.	.	ENSG00000136487	ENST00000423893;ENST00000449787	D;D	0.92911	-3.13;-3.13	2.74	2.74	0.32292	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.	.	.	.	D	0.95446	0.8521	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.97110	1.0;0.589	D	0.95525	0.8598	8	0.72032	D	0.01	.	12.4782	0.55827	0.0:0.0:1.0:0.0	.	209;194	P01242;O14643	SOM2_HUMAN;.	S	209;194	ENSP00000409294:R209S;ENSP00000410618:R194S	ENSP00000409294:R209S	R	-	1	0	GH2	59311442	1.000000	0.71417	0.998000	0.56505	0.093000	0.18481	4.598000	0.61069	1.531000	0.49152	0.306000	0.20318	CGC	GH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000136487		0.607	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	-	0	116	0	G	NM_002059		61957710	-1	tier1	-	no_errors	ENST00000423893	ensembl	human	known	74_37	missense	6.00	93	6	SNP	1.000	T	T	61957710	G	T	61957710	3	4	21	1	0	0	0	0	1	0	0	0	6394	1116	39	2	120	2	GH2	17	61957710	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1464339	61957710	19237500	396	5783											
CSH1	1442	genome.wustl.edu	37	chr17	61972411	61972411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctgccctccacagagcGgcactgcaccatgcgcagga	10	4	11	16	2	0	1	0	0	0	1	1	2	1	2	3	2	5	4	3	2	0	0	rs61764004		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:61972411G>T	ENST00000316193.8	-	5	766	c.625C>A	c.(625-627)Cgc>Agc	p.R209S	CSH1_ENST00000329882.8_3'UTR|CSH1_ENST00000453363.3_Missense_Mutation_p.R114S	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	209						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R209C(1)		central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCACAGAGCGGCACTGCACC	0.607									Russell-Silver syndrome																																								1	Substitution - Missense(1)	central_nervous_system(1)											105	94	98					17																	61972411		2198	4299	6497	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"chorionic somatomammotropin A", "placental lactogen", "choriomammotropin"	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.625C>A	17.37:g.61972411G>T	ENSP00000316416:p.Arg209Ser		P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.R209S	ENST00000316193.8	37	c.625	CCDS11649.1	17	.	.	.	.	.	.	.	.	.	.	g	10.94	1.491692	0.26774	.	.	ENSG00000136488	ENST00000316193;ENST00000453363	D;D	0.92911	-3.13;-3.13	2.56	1.57	0.23409	.	.	.	.	.	D	0.95319	0.8481	M	0.86651	2.83	0.43114	D	0.994825	D;D	0.71674	0.989;0.998	D;D	0.71414	0.973;0.955	D	0.93904	0.7191	9	0.72032	D	0.01	.	8.4239	0.32718	0.1261:0.0:0.8739:0.0	rs61764004	114;209	B1A4H2;Q6PF11	.;.	S	209;114	ENSP00000316416:R209S;ENSP00000402517:R114S	ENSP00000316416:R209S	R	-	1	0	CSH1	59326143	1.000000	0.71417	0.996000	0.52242	0.012000	0.07955	6.449000	0.73473	0.405000	0.25532	-0.671000	0.03813	CGC	CSH1	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000136488		0.607	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH1	HGNC	protein_coding	OTTHUMT00000416040.1		0	136	0	G	NM_001317		61972411	-1			no_errors	ENST00000316193	ensembl	human	known	74_37	missense	5.56	102	6	SNP	1.000	T	T	61972411	G	T	61972411	3	4	21	1	0	0	0	0	1	0	0	0	3949	1116	39	2	32	2	CSH1	17	61972411	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	14701	61972411	19222799	397	5784											
CCDC46	201134	genome.wustl.edu	37	chr17	64026024	64026024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattcactacacgttatctGgtaacatctttcaagttctg	11	16	5	9	1	5	0	2	0	3	0	5	0	5	0	0	1	2	3	0	1	5	7			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:64026024G>T	ENST00000392769.2	-	13	1554	c.1336C>A	c.(1336-1338)Cag>Aag	p.Q446K	CEP112_ENST00000535342.2_Missense_Mutation_p.Q446K|CEP112_ENST00000537949.1_Missense_Mutation_p.Q404K|CEP112_ENST00000541355.1_Missense_Mutation_p.Q81K	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	446					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CACGTTATCTGGTAACATCTT	0.378																																																	0													182	166	171					17																	64026024		2203	4300	6503	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1336C>A	17.37:g.64026024G>T	ENSP00000376522:p.Gln446Lys		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.Q446K	ENST00000392769.2	37	c.1336	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670316	0.67814	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.77	5.77	0.91146	.	0.121669	0.56097	D	0.000025	T	0.40694	0.1127	L	0.60455	1.87	0.42680	D	0.993548	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.72982	0.979;0.979;0.979	T	0.01235	-1.1410	10	0.37606	T	0.19	-17.5304	20.3626	0.98863	0.0:0.0:1.0:0.0	.	404;404;446	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	K	446;446;81;404	ENSP00000442784:Q446K;ENSP00000376522:Q446K;ENSP00000443711:Q81K;ENSP00000440775:Q404K	ENSP00000376522:Q446K	Q	-	1	0	CEP112	61456486	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.691000	0.74573	2.885000	0.99019	0.655000	0.94253	CAG	CEP112	-	NULL	ENSG00000154240		0.378	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1		0	40	0	G	NM_145036		64026024	-1			no_errors	ENST00000392769	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	64026024	G	T	64026024	3	4	21	1	0	0	0	0	1	0	0	0	2824	1357	47	3	1757	3	CCDC46	17	64026024	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2053613	64026024	17169186	398	5785											
BPTF	2186	genome.wustl.edu	37	chr17	65960430	65960430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtatgtctgtccacaGtgccagtcaacagaggatgc	11	9	12	9	0	2	2	1	1	1	1	3	4	3	3	2	1	3	1	2	1	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:65960430G>T	ENST00000321892.4	+	27	8803	c.8742G>T	c.(8740-8742)caG>caT	p.Q2914H	BPTF_ENST00000335221.5_Missense_Mutation_p.Q2771H|BPTF_ENST00000424123.3_Missense_Mutation_p.Q2632H|BPTF_ENST00000306378.6_Missense_Mutation_p.Q2788H			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2914					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGTCCACAGTGCCAGTCAA	0.512																																																	0													118	106	110					17																	65960430		2203	4300	6503	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8742G>T	17.37:g.65960430G>T	ENSP00000315454:p.Gln2914His		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q2914H	ENST00000321892.4	37	c.8742		17	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433569	0.25813	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000342579	D;D;D	0.84944	-1.92;-1.92;-1.92	5.91	4.87	0.63330	.	.	.	.	.	D	0.86247	0.5887	L	0.31845	0.965	0.53688	D	0.999973	P;D;D;D	0.76494	0.873;0.977;0.999;0.999	P;P;D;D	0.69307	0.538;0.905;0.963;0.963	D	0.85562	0.1228	9	0.59425	D	0.04	-7.7087	9.494	0.38978	0.2185:0.0:0.7815:0.0	.	119;592;2788;2771	E9PE19;B4DJV8;Q12830-2;Q12830-4	.;.;.;.	H	2788;2771;2914;119	ENSP00000307208:Q2788H;ENSP00000334351:Q2771H;ENSP00000315454:Q2914H	ENSP00000307208:Q2788H	Q	+	3	2	BPTF	63390892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.875000	0.39578	2.809000	0.96659	0.555000	0.69702	CAG	BPTF	-	pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000171634		0.512	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		-	0	77	0	G	NM_182641, NM_004459		65960430	1	tier1	-	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	65960430	G	T	65960430	3	4	21	1	0	0	0	0	1	0	0	0	1499	1020	36	3	8848	3	BPTF	17	65960430	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1934406	65960430	15234780	399	5786											
COG1	9382	genome.wustl.edu	37	chr17	71197644	71197644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagttctgcctttgacagaTacgcagatgcggggaccgtg	9	9	14	9	3	1	4	0	1	1	3	1	5	1	5	2	2	3	2	2	2	1	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:71197644T>C	ENST00000299886.4	+	7	1758	c.1678T>C	c.(1678-1680)Tac>Cac	p.Y560H		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	560					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTTGACAGATACGCAGATGC	0.557																																																	0													99	89	93					17																	71197644		2203	4300	6503	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1678T>C	17.37:g.71197644T>C	ENSP00000299886:p.Tyr560His		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	NULL	p.Y560H	ENST00000299886.4	37	c.1678	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	T	4.751	0.139575	0.09083	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.24151	1.87;1.87	5.29	4.21	0.49690	.	0.250785	0.41712	D	0.000828	T	0.39937	0.1097	M	0.63843	1.955	0.09310	N	0.999997	D;D;D	0.63046	0.986;0.992;0.986	P;P;P	0.60682	0.794;0.878;0.794	T	0.22626	-1.0211	10	0.21014	T	0.42	-8.8889	10.9846	0.47514	0.0:0.0731:0.0:0.9269	.	560;560;560	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	H	560	ENSP00000400111:Y560H;ENSP00000299886:Y560H	ENSP00000299886:Y560H	Y	+	1	0	COG1	68709239	0.549000	0.26481	0.002000	0.10522	0.034000	0.12701	3.856000	0.55964	0.864000	0.35578	0.533000	0.62120	TAC	COG1	-	NULL	ENSG00000166685		0.557	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	-	0	33	0	T			71197644	1	tier1	-	no_errors	ENST00000299886	ensembl	human	known	74_37	missense	45.95	20	17	SNP	0.027	C	C	71197644	T	C	71197644	3	2	21	1	0	0	0	0	1	0	0	0	3664	1406	49	4	1704	4	COG1	17	71197644	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	5237214	71197644	9997566	400	5787											
TMEM104	54868	genome.wustl.edu	37	chr17	72781707	72781707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccactgccgggtggcttgtCagcctcgtcctgctggtgtt	2	12	14	13	2	1	0	1	0	0	0	3	0	2	0	4	3	3	3	4	3	0	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:72781707C>T	ENST00000335464.5	+	3	294	c.132C>T	c.(130-132)gtC>gtT	p.V44V	TMEM104_ENST00000582330.1_Silent_p.V44V|TMEM104_ENST00000582773.1_Silent_p.V44V|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	44						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGTGGCTTGTCAGCCTCGTCC	0.627																																																	0													94	72	79					17																	72781707		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.132C>T	17.37:g.72781707C>T			Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.V44	ENST00000335464.5	37	c.132	CCDS32723.1	17																																																																																			TMEM104	-	pfam_AA_transpt_TM	ENSG00000109066		0.627	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	-	0	38	0	C	NM_017728		72781707	1	tier1	-	no_errors	ENST00000335464	ensembl	human	known	74_37	silent	43.75	36	28	SNP	1.000	T	T	72781707	C	T	72781707	2	4	21	1	0	0	0	0	0	0	0	1	16065	813	29	3		3	TMEM104	17	72781707	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1584063	72781707	8413503	401	5788											
SLC16A5	9121	genome.wustl.edu	37	chr17	73096682	73096682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccaccgcaagtacctgttCagcctggcactcctgctcaa	9	8	8	16	1	2	0	2	0	0	0	3	0	3	0	5	1	4	5	5	1	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:73096682C>T	ENST00000450736.2	+	4	1339	c.924C>T	c.(922-924)ttC>ttT	p.F308F	SLC16A5_ENST00000538213.2_Silent_p.F348F|SLC16A5_ENST00000329783.4_Silent_p.F308F|SLC16A5_ENST00000580123.1_Silent_p.F308F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	308					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGTACCTGTTCAGCCTGGCAC	0.607																																																	0													623	544	571					17																	73096682		2203	4300	6503	SO:0001819	synonymous_variant	0			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"Solute carriers"	10926	protein-coding gene	gene with protein product		603879	"solute carrier family 16 (monocarboxylic acid transporters), member 5", "solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.924C>T	17.37:g.73096682C>T			B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.F308	ENST00000450736.2	37	c.924	CCDS11713.1	17																																																																																			SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000170190		0.607	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	-	0	28	0	C	NM_004695		73096682	1	tier1	-	no_errors	ENST00000329783	ensembl	human	known	74_37	silent	12.24	43	6	SNP	0.955	T	T	73096682	C	T	73096682	2	4	21	1	0	0	0	0	0	0	0	1	14456	825	29	3		3	SLC16A5	17	73096682	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	314975	73096682	8098528	402	5789											
TNRC6C	57690	genome.wustl.edu	37	chr17	76061018	76061018	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccctgtgcaaaccaGgtaagcctagcatcctgctt	9	9	8	15	0	1	0	1	0	0	0	2	0	2	0	5	1	6	4	5	1	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:76061018G>T	ENST00000588061.1	+	6	3338	c.2611G>T	c.(2611-2613)Gct>Tct	p.A871S	TNRC6C_ENST00000588847.1_Splice_Site_p.A868S|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000301624.4_Splice_Site_p.A871S|TNRC6C_ENST00000541771.1_Splice_Site_p.A871S|TNRC6C_ENST00000335749.4_Splice_Site_p.A868S|TNRC6C_ENST00000544502.1_Splice_Site_p.A868S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	871	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTGCAAACCAGGTAAGCCTAG	0.502																																																	0													14	16	16					17																	76061018		1957	4162	6119	SO:0001630	splice_region_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2611+1G>T	17.37:g.76061018G>T			G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A868S	ENST00000588061.1	37	c.2602	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078084	0.76528	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.39	5.39	0.77823	Argonaute hook domain (1);	0.107851	0.64402	D	0.000005	T	0.64294	0.2585	M	0.75447	2.3	0.80722	D	1	P;D;D	0.63880	0.553;0.962;0.993	B;P;D	0.65323	0.306;0.743;0.934	T	0.62393	-0.6864	10	0.36615	T	0.2	-9.7369	19.1425	0.93451	0.0:0.0:1.0:0.0	.	868;871;871	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	S	871;868;868;871;871;868	ENSP00000336783:A868S;ENSP00000301624:A871S;ENSP00000440310:A871S;ENSP00000442421:A868S	ENSP00000301624:A871S	A	+	1	0	TNRC6C	73572613	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.329000	0.96413	2.519000	0.84933	0.655000	0.94253	GCT	TNRC6C	-	pfam_Argonaute_hook_dom	ENSG00000078687		0.502	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1		0	18	0	G	NM_018996	Missense_Mutation	76061018	1			no_errors	ENST00000335749	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	76061018	G	T	76061018	5	4	21	1	0	0	0	0	0	0	1	0	16389	1014	35	3	2617	3	TNRC6C	17	76061018	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2964336	76061018	5134192	403	5790											
TNRC6C	57690	genome.wustl.edu	37	chr17	76083023	76083023	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgaagcagccaccaccGccaccgcccccgccgcacct	7	3	8	23	5	0	1	0	1	0	0	1	1	0	1	9	0	2	2	9	0	1	0	rs34543719	byFrequency	TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr17:76083023G>T	ENST00000588061.1	+	15	4378	c.3651G>T	c.(3649-3651)ccG>ccT	p.P1217P	TNRC6C_ENST00000588847.1_Silent_p.P1214P|TNRC6C_ENST00000301624.4_Silent_p.P1217P|TNRC6C_ENST00000541771.1_Silent_p.P1217P|TNRC6C_ENST00000335749.4_Silent_p.P1214P|TNRC6C_ENST00000544502.1_Silent_p.P1214P			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1217	Pro-rich.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCCACCACCGCCACCGCCCC	0.672																																																	0													36	47	43					17																	76083023		2099	4217	6316	SO:0001819	synonymous_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3651G>T	17.37:g.76083023G>T			G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.P1214	ENST00000588061.1	37	c.3642	CCDS45798.1	17																																																																																			TNRC6C	-	NULL	ENSG00000078687		0.672	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1		0	33	0	G	NM_018996		76083023	1			no_errors	ENST00000335749	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.999	T	T	76083023	G	T	76083023	2	4	21	1	0	0	0	0	0	0	0	1	16389	1074	38	2		2	TNRC6C	17	76083023	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	22005	76083023	5112187	404	5791											
METTL4	64863	genome.wustl.edu	37	chr18	2547509	2547509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtatttgctgtatttgcaGgggtgacaaataactgtacc	11	13	11	6	0	0	1	0	1	0	0	0	1	0	1	1	3	4	5	1	3	5	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:2547509G>T	ENST00000574538.1	-	6	1694	c.919C>A	c.(919-921)Ctg>Atg	p.L307M	METTL4_ENST00000319888.6_Missense_Mutation_p.L307M	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	307					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGTATTTGCAGGGGTGACAAA	0.378																																																	0													55	53	54					18																	2547509		2203	4300	6503	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.919C>A	18.37:g.2547509G>T	ENSP00000458290:p.Leu307Met		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.L307M	ENST00000574538.1	37	c.919	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	G	7.152	0.583959	0.13749	.	.	ENSG00000101574	ENST00000319888	T	0.44482	0.92	5.57	-1.36	0.09085	.	0.767779	0.12672	N	0.448697	T	0.22126	0.0533	L	0.27053	0.805	0.09310	N	1	B;B	0.19445	0.036;0.022	B;B	0.21151	0.033;0.024	T	0.16928	-1.0386	10	0.40728	T	0.16	-12.521	0.607	0.00754	0.4032:0.1306:0.2023:0.2639	.	307;307	A8K1T6;Q8N3J2	.;METL4_HUMAN	M	307	ENSP00000320349:L307M	ENSP00000320349:L307M	L	-	1	2	METTL4	2537509	0.500000	0.26091	0.153000	0.22517	0.784000	0.44337	1.262000	0.32992	-0.131000	0.11578	-0.145000	0.13849	CTG	METTL4	-	pfam_MT-A70-like,pfscan_MT-A70-like	ENSG00000101574		0.378	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3		0	45	0	G	NM_022840		2547509	-1			no_errors	ENST00000574538	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.002	T	T	2547509	G	T	2547509	3	4	21	1	0	0	0	0	1	0	0	0	9540	991	35	3	515	3	METTL4	18	2547509	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		2547509	75529739	405	5792											
TMEM200C	645369	genome.wustl.edu	37	chr18	5890236	5890236	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcttcttctacccctatGgcatgagacctggaaatcat	10	13	7	11	0	4	1	1	1	3	1	4	3	4	2	3	2	1	2	3	2	3	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:5890236G>T	ENST00000581347.2	-	3	2472	c.1827C>A	c.(1825-1827)gcC>gcA	p.A609A	RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.A609A|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	609						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTACCCCTATGGCATGAGACC	0.527																																																	0													95	91	92					18																	5890236		1878	4109	5987	SO:0001819	synonymous_variant	0				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1827C>A	18.37:g.5890236G>T				Silent	SNP	pfam_DUF2371_TMEM200	p.A609	ENST00000581347.2	37	c.1827	CCDS45825.1	18																																																																																			TMEM200C	-	NULL	ENSG00000206432		0.527	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	-	0	54	0	G	NM_001080209		5890236	-1	tier1	-	no_errors	ENST00000383490	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.004	T	T	5890236	G	T	5890236	2	4	21	1	0	0	0	0	0	0	0	1	16172	1335	47	3		3	TMEM200C	18	5890236	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3342727	5890236	72187012	406	5793											
APCDD1	147495	genome.wustl.edu	37	chr18	10488020	10488020	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgtccctctgctgcattgGaacatccgcagatagaagtt	9	12	9	11	1	1	2	0	0	1	2	3	3	3	3	2	1	3	4	2	1	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:10488020G>A	ENST00000355285.5	+	5	1884	c.1530G>A	c.(1528-1530)tgG>tgA	p.W510*		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TGCTGCATTGGAACATCCGCA	0.478																																																	0													37	44	42					18																	10488020		2203	4300	6503	SO:0001587	stop_gained	0			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1530G>A	18.37:g.10488020G>A	ENSP00000347433:p.Trp510*			Nonsense_Mutation	SNP	NULL	p.W510*	ENST00000355285.5	37	c.1530	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	G	38	7.154492	0.98099	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	.	.	.	5.55	4.67	0.58626	.	0.315943	0.31612	N	0.007359	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7619	15.9816	0.80114	0.0:0.1462:0.8538:0.0	.	.	.	.	X	510;561	.	ENSP00000347433:W510X	W	+	3	0	APCDD1	10478020	1.000000	0.71417	0.039000	0.18376	0.207000	0.24258	4.601000	0.61090	1.313000	0.45069	0.655000	0.94253	TGG	APCDD1	-	NULL	ENSG00000154856		0.478	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2		0	31	0	G	NM_153000		10488020	1			no_errors	ENST00000355285	ensembl	human	known	74_37	nonsense	12.00	22	3	SNP	0.738	A	A	10488020	G	A	10488020	4	1	21	1	0	0	0	0	0	1	0	0	765	1183	41	3	1548	3	APCDD1	18	10488020	Nonsense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4597784	10488020	67589228	407	5794											
C18orf45	85019	genome.wustl.edu	37	chr18	20932195	20932195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggctgcacactgccctgGggccagaaggttttttagct	7	10	12	12	0	0	1	0	0	0	1	0	1	0	1	3	4	3	4	3	4	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:20932195G>T	ENST00000383233.3	-	13	782	c.730C>A	c.(730-732)Cca>Aca	p.P244T	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Missense_Mutation_p.P123T	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	244						integral component of membrane (GO:0016021)											CACTGCCCTGGGGCCAGAAGG	0.448																																																	0													100	98	98					18																	20932195		1851	4100	5951	SO:0001583	missense	0			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.730C>A	18.37:g.20932195G>T	ENSP00000372720:p.Pro244Thr		I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	NULL	p.P244T	ENST00000383233.3	37	c.730	CCDS11876.2	18	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317479	0.23908	.	.	ENSG00000134490	ENST00000450466;ENST00000383233	T;T	0.69806	0.78;-0.43	5.48	4.58	0.56647	.	0.513127	0.14003	U	0.347965	T	0.52191	0.1719	L	0.27053	0.805	0.80722	D	1	B	0.33583	0.418	B	0.27796	0.083	T	0.57335	-0.7829	10	0.66056	D	0.02	-19.0497	12.4526	0.55684	0.0:0.1669:0.8331:0.0	.	244	Q24JQ0	CR045_HUMAN	T	123;244	ENSP00000414899:P123T;ENSP00000372720:P244T	ENSP00000372720:P244T	P	-	1	0	C18orf45	19186193	1.000000	0.71417	0.995000	0.50966	0.093000	0.18481	2.835000	0.48175	2.575000	0.86900	0.655000	0.94253	CCA	TMEM241	-	NULL	ENSG00000134490		0.448	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM241	HGNC	protein_coding	OTTHUMT00000254702.3	-	0	45	0	G	NM_032933		20932195	-1	tier1	-	no_errors	ENST00000383233	ensembl	human	known	74_37	missense	6.93	94	7	SNP	0.998	T	T	20932195	G	T	20932195	3	4	21	1	0	0	0	0	1	0	0	0	1910	1232	43	3	172	3	C18orf45	18	20932195	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10444175	20932195	57145053	408	5795											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21894264	21894264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggaagccatgaatggtGtcatcaaagcatttaataaa	16	9	8	8	1	2	1	2	1	0	0	2	2	2	2	2	2	2	1	2	2	6	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:21894264G>T	ENST00000319481.3	-	12	1124	c.918C>A	c.(916-918)gaC>gaA	p.D306E	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	306	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATGAATGGTGTCATCAAAGC	0.368																																																	0													106	105	105					18																	21894264		2203	4300	6503	SO:0001583	missense	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.918C>A	18.37:g.21894264G>T	ENSP00000320291:p.Asp306Glu		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.D306E	ENST00000319481.3	37	c.918	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635243	0.47049	.	.	ENSG00000141447	ENST00000319481	T	0.43294	0.95	5.7	3.59	0.41128	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.048867	0.85682	D	0.000000	T	0.40015	0.1100	M	0.75447	2.3	0.80722	D	1	P;P	0.46395	0.877;0.608	B;B	0.40741	0.339;0.097	T	0.37056	-0.9722	10	0.12766	T	0.61	-28.3725	11.8317	0.52299	0.2125:0.0:0.7875:0.0	.	306;306	B0YJ56;Q9BXW6	.;OSBL1_HUMAN	E	306	ENSP00000320291:D306E	ENSP00000320291:D306E	D	-	3	2	OSBPL1A	20148262	1.000000	0.71417	0.998000	0.56505	0.915000	0.54546	4.550000	0.60733	1.407000	0.46875	0.585000	0.79938	GAC	OSBPL1A	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141447		0.368	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	-	0	31	0	G	NM_080597		21894264	-1	tier1	-	no_errors	ENST00000319481	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	21894264	G	T	21894264	3	4	21	1	0	0	0	0	1	0	0	0	11316	1368	48	3	2002	3	OSBPL1A	18	21894264	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	962069	21894264	56182984	409	5796											
SLC39A6	25800	genome.wustl.edu	37	chr18	33689687	33689687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccatggtcactagcatCattgtgcagcatttcaggta	11	12	8	10	0	3	0	3	0	0	0	4	0	4	0	1	2	3	4	1	2	2	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:33689687C>A	ENST00000590986.1	-	10	2426	c.2137G>T	c.(2137-2139)Gat>Tat	p.D713Y	SLC39A6_ENST00000269187.5_Missense_Mutation_p.D713Y			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	713					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCACTAGCATCATTGTGCAGC	0.328																																																	0													118	116	116					18																	33689687		1825	4083	5908	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.2137G>T	18.37:g.33689687C>A	ENSP00000465915:p.Asp713Tyr		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.D713Y	ENST00000590986.1	37	c.2137	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834439	0.91036	.	.	ENSG00000141424	ENST00000269187;ENST00000543723	T	0.51817	0.69	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.59101	0.2169	L	0.39245	1.2	0.80722	D	1	P	0.50819	0.939	P	0.60541	0.876	T	0.59643	-0.7416	10	0.72032	D	0.01	-28.6648	17.3058	0.87194	0.0:1.0:0.0:0.0	.	713	Q13433	S39A6_HUMAN	Y	713;368	ENSP00000269187:D713Y	ENSP00000269187:D713Y	D	-	1	0	SLC39A6	31943685	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.850000	0.69473	2.762000	0.94881	0.591000	0.81541	GAT	SLC39A6	-	pfam_ZIP	ENSG00000141424		0.328	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	-	0	23	0	C			33689687	-1	tier1	-	no_errors	ENST00000269187	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A	A	33689687	C	A	33689687	3	1	21	1	0	0	0	0	1	0	0	0	14667	826	29	3	134	3	SLC39A6	18	33689687	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	11795423	33689687	44387561	410	5797											
SETBP1	26040	genome.wustl.edu	37	chr18	42532361	42532361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagtcaaagaagaagcGtggtaggcctgcaaaaacca	16	6	11	8	1	1	3	1	1	0	2	1	3	1	3	2	2	3	2	2	2	7	2	rs140544874		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:42532361G>A	ENST00000282030.5	+	4	3352	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1019						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R965H(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGAAGAAGCGTGGTAGGCCT	0.438									Schinzel-Giedion syndrome																																								1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	HIS/ARG	0,4406		0,0,2203	89	82	85		3056	5.8	1	18	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	SETBP1	NM_015559.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1019/1597	42532361	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3056G>A	18.37:g.42532361G>A	ENSP00000282030:p.Arg1019His		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.R1019H	ENST00000282030.5	37	c.3056	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857601	0.71834	0.0	1.16E-4	ENSG00000152217	ENST00000282030	D	0.93019	-3.15	5.82	5.82	0.92795	AT hook, DNA-binding motif (1);	0.000000	0.85682	D	0.000000	D	0.94899	0.8351	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95365	0.8459	10	0.87932	D	0	.	20.0893	0.97812	0.0:0.0:1.0:0.0	.	1019	Q9Y6X0	SETBP_HUMAN	H	1019	ENSP00000282030:R1019H	ENSP00000282030:R1019H	R	+	2	0	SETBP1	40786359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.030000	0.88816	2.761000	0.94854	0.655000	0.94253	CGT	SETBP1	-	smart_AT_hook_DNA-bd_motif	ENSG00000152217		0.438	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	33	0	G	NM_001130110		42532361	1	tier1	rs140544874	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	A	A	42532361	G	A	42532361	3	1	21	1	0	0	0	0	1	0	0	0	14174	1145	40	1	3259	1	SETBP1	18	42532361	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8842674	42532361	35544887	411	5798											
ATP5A1	498	genome.wustl.edu	37	chr18	43675034	43675034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccagtcttttgaagatGagtgttagaggcatggaagt	11	13	12	5	0	1	4	0	2	1	2	1	5	1	5	1	2	1	2	1	2	4	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:43675034G>T	ENST00000398752.6	-	2	245	c.124C>A	c.(124-126)Cat>Aat	p.H42N	ATP5A1_ENST00000590665.1_Missense_Mutation_p.H42N|ATP5A1_ENST00000591267.1_5'UTR|ATP5A1_ENST00000282050.2_Missense_Mutation_p.H42N|ATP5A1_ENST00000593152.2_5'UTR	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	42					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TTTTGAAGATGAGTGTTAGAG	0.348																																																	0													88	88	88					18																	43675034		2203	4300	6503	SO:0001583	missense	0			D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	823	protein-coding gene	gene with protein product		164360	"ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2", "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.124C>A	18.37:g.43675034G>T	ENSP00000381736:p.His42Asn		A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu	p.H42N	ENST00000398752.6	37	c.124	CCDS11927.1	18	.	.	.	.	.	.	.	.	.	.	G	7.004	0.555536	0.13436	.	.	ENSG00000152234	ENST00000282050;ENST00000398752	T;T	0.28895	1.59;1.59	5.0	2.09	0.27110	.	0.436901	0.28572	N	0.014874	T	0.11623	0.0283	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.16512	-1.0400	10	0.27785	T	0.31	0.9169	1.7661	0.03002	0.261:0.1344:0.4673:0.1373	.	42	P25705	ATPA_HUMAN	N	42	ENSP00000282050:H42N;ENSP00000381736:H42N	ENSP00000282050:H42N	H	-	1	0	ATP5A1	41929032	0.000000	0.05858	0.026000	0.17262	0.994000	0.84299	-0.260000	0.08708	0.192000	0.20272	0.644000	0.83932	CAT	ATP5A1	-	NULL	ENSG00000152234		0.348	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5A1	HGNC	protein_coding	OTTHUMT00000255884.1	-	0	40	0	G	NM_004046		43675034	-1	tier1	-	no_errors	ENST00000282050	ensembl	human	known	74_37	missense	20.83	57	15	SNP	0.000	T	T	43675034	G	T	43675034	3	4	21	1	0	0	0	0	1	0	0	0	1148	1290	45	3	1581	3	ATP5A1	18	43675034	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1142673	43675034	34402214	412	5799											
MYO5B	4645	genome.wustl.edu	37	chr18	47404149	47404149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacctccacctgctggaggGcatcctcagtgtctccgatc	6	10	9	16	1	3	0	2	0	1	0	7	2	5	1	5	2	1	2	5	2	0	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:47404149G>T	ENST00000285039.7	-	25	3679	c.3380C>A	c.(3379-3381)gCc>gAc	p.A1127D	MYO5B_ENST00000324581.6_Missense_Mutation_p.A268D|MYO5B_ENST00000587895.1_5'Flank	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1127					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.A1127D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTGCTGGAGGGCATCCTCAGT	0.502																																																	1	Substitution - Missense(1)	endometrium(1)											166	163	164					18																	47404149		1999	4174	6173	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3380C>A	18.37:g.47404149G>T	ENSP00000285039:p.Ala1127Asp		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1127D	ENST00000285039.7	37	c.3380	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367710	0.42003	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.18657	2.2;2.2	5.67	5.67	0.87782	.	0.307790	0.34603	N	0.003828	T	0.11495	0.0280	N	0.08118	0	0.39130	D	0.961831	B;P	0.36753	0.042;0.568	B;B	0.37550	0.039;0.253	T	0.27971	-1.0058	10	0.12766	T	0.61	.	13.9919	0.64372	0.0745:0.0:0.9255:0.0	.	1127;268	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	D	1127;268	ENSP00000285039:A1127D;ENSP00000315531:A268D	ENSP00000285039:A1127D	A	-	2	0	MYO5B	45658147	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	5.997000	0.70646	2.681000	0.91329	0.561000	0.74099	GCC	MYO5B	-	NULL	ENSG00000167306		0.502	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	-	0	72	0	G			47404149	-1	tier1	-	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.997	T	T	47404149	G	T	47404149	3	4	21	1	0	0	0	0	1	0	0	0	10117	1203	42	3	2230	3	MYO5B	18	47404149	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3729115	47404149	30673099	413	5800											
ALPK2	115701	genome.wustl.edu	37	chr18	56246602	56246602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcttggtggctgtctctgGtttctccttgaattcctgga	3	18	11	9	0	2	1	0	1	2	0	5	2	3	2	2	4	1	3	2	4	1	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr18:56246602G>T	ENST00000361673.3	-	4	1619	c.1406C>A	c.(1405-1407)aCc>aAc	p.T469N	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	469						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTGTCTCTGGTTTCTCCTTG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													150	151	151					18																	56246602		2203	4300	6503	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1406C>A	18.37:g.56246602G>T	ENSP00000354991:p.Thr469Asn	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.T469N	ENST00000361673.3	37	c.1406	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018323	0.54576	.	.	ENSG00000198796	ENST00000361673	T	0.49720	0.77	5.21	2.16	0.27623	.	.	.	.	.	T	0.33265	0.0857	L	0.44542	1.39	0.25607	N	0.986537	B	0.32071	0.355	B	0.24974	0.057	T	0.11867	-1.0570	9	0.20046	T	0.44	-5.6669	7.956	0.30042	0.0:0.119:0.351:0.53	.	469	Q86TB3	ALPK2_HUMAN	N	469	ENSP00000354991:T469N	ENSP00000354991:T469N	T	-	2	0	ALPK2	54397582	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.489000	0.35562	1.180000	0.42898	-0.314000	0.08810	ACC	ALPK2	-	NULL	ENSG00000198796		0.478	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0	67	0	G	NM_052947		56246602	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.993	T	T	56246602	G	T	56246602	3	4	21	1	0	0	0	0	1	0	0	0	545	1261	44	3	5146	3	ALPK2	18	56246602	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	8842453	56246602	21830646	414	5801											
PLIN3	10226	genome.wustl.edu	37	chr19	4839479	4839479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaatgctggaccccaGggaggtacaggtggcctgca	8	6	15	12	0	0	1	0	1	0	0	0	3	0	3	4	5	3	3	4	5	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:4839479G>T	ENST00000221957.4	-	8	1206	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	PLIN3_ENST00000585479.1_Missense_Mutation_p.L343M|PLIN3_ENST00000592528.1_Missense_Mutation_p.L332M|CTC-518P12.6_ENST00000591657.1_RNA	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	344					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTGGACCCCAGGGAGGTACAG	0.637																																																	0													35	29	31					19																	4839479		2203	4300	6503	SO:0001583	missense	0			AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"Perilipins"	16893	protein-coding gene	gene with protein product	"cargo selection protein (mannose 6 phosphate receptor binding protein)", "placental protein 17", "MPR-BINDING PROTEIN, 47-KD"	602702	"mannose-6-phosphate receptor binding protein 1"	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.1030C>A	19.37:g.4839479G>T	ENSP00000221957:p.Leu344Met		A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.L344M	ENST00000221957.4	37	c.1030	CCDS12137.1	19	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562298	0.27915	.	.	ENSG00000105355	ENST00000221957	T	0.34072	1.38	4.85	2.62	0.31277	.	1.788910	0.03536	U	0.223215	T	0.65471	0.2694	M	0.87971	2.92	0.29147	N	0.878644	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.996	T	0.11991	-1.0565	10	0.87932	D	0	-23.5374	6.4749	0.22031	0.1605:0.1499:0.6896:0.0	.	343;161;344	O60664-3;O60664-2;O60664	.;.;PLIN3_HUMAN	M	344	ENSP00000221957:L344M	ENSP00000221957:L344M	L	-	1	2	PLIN3	4790479	0.856000	0.29760	0.218000	0.23776	0.041000	0.13682	1.164000	0.31810	0.425000	0.26087	-0.266000	0.10368	CTG	PLIN3	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000105355		0.637	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLIN3	HGNC	protein_coding	OTTHUMT00000450436.1	-	0	51	0	G	NM_005817		4839479	-1	tier1	-	no_errors	ENST00000221957	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.537	T	T	4839479	G	T	4839479	3	4	21	1	0	0	0	0	1	0	0	0	12130	991	35	3	278	3	PLIN3	19	4839479	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		4839479	54289504	415	5802											
MUC16	94025	genome.wustl.edu	37	chr19	9075971	9075971	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatctgggcacctgcccTggatgtgcagaagtggtggt	6	10	16	9	0	1	2	0	1	1	1	1	3	1	3	2	4	2	3	2	4	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:9075971T>A	ENST00000397910.4	-	3	11678	c.11475A>T	c.(11473-11475)ccA>ccT	p.P3825P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3826	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P3825P(4)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCACCTGCCCTGGATGTGCAG	0.507																																																	4	Substitution - coding silent(4)	lung(4)											211	198	202					19																	9075971		2056	4210	6266	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11475A>T	19.37:g.9075971T>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P3825	ENST00000397910.4	37	c.11475	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	30	0	T	NM_024690		9075971	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.008	A	A	9075971	T	A	9075971	2	1	21	1	0	0	0	0	0	0	0	1	10011	1567	55	5		5	MUC16	19	9075971	Silent	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	4236492	9075971	50053012	416	5803											
ZNF823	55552	genome.wustl.edu	37	chr19	11835025	11835025	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttagatttctcttggCattttggcactgatctccaa	8	17	6	10	0	2	2	0	1	2	1	4	2	2	2	2	2	1	2	2	2	3	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:11835025C>G	ENST00000341191.6	-	3	328	c.175G>C	c.(175-177)Gcc>Ccc	p.A59P	CTC-499B15.6_ENST00000586983.1_RNA|ZNF823_ENST00000545749.1_Intron|ZNF823_ENST00000440527.1_Intron	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	59	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TTTCTCTTGGCATTTTGGCAC	0.343										HNSCC(68;0.2)																																							0													102	90	94					19																	11835025		1853	4132	5985	SO:0001583	missense	0			X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"Zinc fingers, C2H2-type", "-"	30936	protein-coding gene	gene with protein product	"ZFP 36 for a zinc finger protein"						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.175G>C	19.37:g.11835025C>G	ENSP00000340683:p.Ala59Pro		A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A59P	ENST00000341191.6	37	c.175	CCDS45981.1	19	.	.	.	.	.	.	.	.	.	.	c	0.010	-1.774242	0.00640	.	.	ENSG00000197933	ENST00000341191;ENST00000431998	T;T	0.06687	4.14;3.27	1.35	-2.71	0.05986	Krueppel-associated box (3);	.	.	.	.	T	0.02304	0.0071	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42413	-0.9453	9	0.34782	T	0.22	.	3.8379	0.08902	0.2011:0.5052:0.2937:0.0	.	59	P16415	ZN823_HUMAN	P	59;15	ENSP00000340683:A59P;ENSP00000410654:A15P	ENSP00000340683:A59P	A	-	1	0	ZNF823	11696025	0.000000	0.05858	0.001000	0.08648	0.079000	0.17450	-1.065000	0.03458	-0.850000	0.04152	-2.924000	0.00089	GCC	ZNF823	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197933		0.343	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF823	HGNC	protein_coding	OTTHUMT00000344516.2	-	0	70	0	C	NM_001080493		11835025	-1	tier1	-	no_errors	ENST00000341191	ensembl	human	known	74_37	missense	25.37	50	17	SNP	0.001	G	G	11835025	C	G	11835025	3	3	21	1	0	0	0	0	1	0	0	0	18227	710	25	5	1665	5	ZNF823	19	11835025	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	2759054	11835025	47293958	417	5804											
CALR	811	genome.wustl.edu	37	chr19	13054423	13054423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgctgaggagtttggcaacGagacgtggggcgtaacaaag	12	6	16	7	4	0	2	0	1	0	1	0	4	0	3	0	4	2	4	0	4	3	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:13054423G>A	ENST00000316448.5	+	8	1106	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	RAD23A_ENST00000592268.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000541222.1_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	345	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GTTTGGCAACGAGACGTGGGG	0.597																																																	0													152	121	131					19																	13054423		2203	4300	6503	SO:0001583	missense	0			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1033G>A	19.37:g.13054423G>A	ENSP00000320866:p.Glu345Lys		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pirsf_Calreticulin,pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex	p.E345K	ENST00000316448.5	37	c.1033	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820857	0.71028	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.51574	0.7	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);	0.112806	0.64402	D	0.000011	T	0.40546	0.1121	L	0.37897	1.145	0.80722	D	1	B	0.27559	0.181	B	0.15870	0.014	T	0.17561	-1.0365	10	0.42905	T	0.14	-42.1271	18.3626	0.90380	0.0:0.0:1.0:0.0	.	345	P27797	CALR_HUMAN	K	345;224	ENSP00000320866:E345K	ENSP00000320866:E345K	E	+	1	0	CALR	12915423	1.000000	0.71417	0.815000	0.32552	0.631000	0.37964	9.630000	0.98420	2.633000	0.89246	0.561000	0.74099	GAG	CALR	-	pirsf_Calreticulin,superfamily_ConA-like_lec_gl_sf	ENSG00000179218		0.597	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	-	0	43	0	G	NM_004343		13054423	1	tier1	-	no_errors	ENST00000316448	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	13054423	G	A	13054423	3	1	21	1	0	0	0	0	1	0	0	0	2599	1059	37	1	1063	1	CALR	19	13054423	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1219398	13054423	46074560	418	5805											
ZSWIM4	65249	genome.wustl.edu	37	chr19	13919937	13919937	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcgcgcatgctgattctCatgaccgagcagttcctgca	7	9	13	12	3	1	2	1	2	1	0	3	3	2	2	2	2	3	5	2	2	0	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:13919937C>G	ENST00000254323.2	+	5	1104	c.915C>G	c.(913-915)ctC>ctG	p.L305L	ZSWIM4_ENST00000440752.2_Silent_p.L22L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	305							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			TGCTGATTCTCATGACCGAGC	0.697																																																	0													49	53	51					19																	13919937		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"Zinc fingers, SWIM-type"	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.915C>G	19.37:g.13919937C>G				Silent	SNP	pfscan_Znf_SWIM	p.L305	ENST00000254323.2	37	c.915	CCDS32924.1	19																																																																																			ZSWIM4	-	NULL	ENSG00000132003		0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	-	0	32	0	C	XM_031342		13919937	1	tier1	-	no_errors	ENST00000254323	ensembl	human	known	74_37	silent	30.00	14	6	SNP	1.000	G	G	13919937	C	G	13919937	2	3	21	1	0	0	0	0	0	0	0	1	18291	813	29	5		5	ZSWIM4	19	13919937	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	865514	13919937	45209046	419	5806											
DDX39	10212	genome.wustl.edu	37	chr19	14522366	14522366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctcatattccttgctgatCtggaaggccagctccctcgt	6	12	9	14	2	2	1	1	1	1	0	5	2	4	2	3	2	2	3	3	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:14522366C>G	ENST00000242776.4	-	4	482	c.381G>C	c.(379-381)caG>caC	p.Q127H	DDX39A_ENST00000454233.2_Missense_Mutation_p.Q127H|CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_5'UTR	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	127	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CCTTGCTGATCTGGAAGGCCA	0.567																																																	0													155	130	138					19																	14522366		2203	4300	6503	SO:0001583	missense	0			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"DEAD-boxes"	17821	protein-coding gene	gene with protein product	"UAP56-related helicase, 49 kDa"		"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.381G>C	19.37:g.14522366C>G	ENSP00000242776:p.Gln127His		Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q127H	ENST00000242776.4	37	c.381	CCDS12308.1	19	.	.	.	.	.	.	.	.	.	.	c	18.54	3.646740	0.67358	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340;ENST00000454233	T;T;T	0.58506	2.81;0.33;0.33	4.13	1.93	0.25924	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	H	0.99074	4.42	0.80722	D	1	D;P	0.54397	0.966;0.936	P;P	0.59546	0.859;0.594	D	0.84208	0.0454	10	0.87932	D	0	-20.1532	8.8432	0.35155	0.0:0.7928:0.0:0.2072	.	127;127	B1Q2N1;O00148	.;DX39A_HUMAN	H	170;127;127;127	ENSP00000242776:Q127H;ENSP00000322749:Q127H;ENSP00000392929:Q127H	ENSP00000242776:Q127H	Q	-	3	2	DDX39A	14383366	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.697000	0.47060	0.871000	0.35750	0.651000	0.88453	CAG	DDX39A	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000123136		0.567	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	-	0	75	0	C	NM_138998		14522366	-1	tier1	-	no_errors	ENST00000242776	ensembl	human	known	74_37	missense	22.03	46	13	SNP	1.000	G	G	14522366	C	G	14522366	3	3	21	1	0	0	0	0	1	0	0	0	4366	912	32	5	934	5	DDX39	19	14522366	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	602429	14522366	44606617	420	5807											
EPS15L1	58513	genome.wustl.edu	37	chr19	16552786	16552786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccctccctgtgtatgccgGatcgacctgaaatgggagac	9	8	11	13	2	0	2	0	1	0	1	2	5	1	3	4	2	1	1	4	2	2	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:16552786G>T	ENST00000248070.6	-	3	221	c.82C>A	c.(82-84)Ccg>Acg	p.P28T	EPS15L1_ENST00000535753.2_Missense_Mutation_p.P28T|EPS15L1_ENST00000455140.2_Missense_Mutation_p.P28T|EPS15L1_ENST00000594975.1_Missense_Mutation_p.P28T|EPS15L1_ENST00000597937.1_Missense_Mutation_p.P28T|CTD-2013N17.4_ENST00000587343.1_RNA	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	28	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGTATGCCGGATCGACCTGA	0.507											OREG0025335	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83	86	85					19																	16552786		2203	4300	6503	SO:0001583	missense	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.82C>A	19.37:g.16552786G>T	ENSP00000248070:p.Pro28Thr	711	A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.P28T	ENST00000248070.6	37	c.82	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403694	0.25291	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.32023	1.9;1.89;1.47	5.33	4.29	0.51040	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.43612	0.1255	L	0.51914	1.62	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.89;0.998;0.996;0.961	D;P;D;D;P	0.75484	0.986;0.596;0.953;0.968;0.835	T	0.32640	-0.9899	10	0.07644	T	0.81	.	13.0458	0.58925	0.0776:0.0:0.9224:0.0	.	28;28;28;28;28	A8K5P4;A5PL29;A2RRF3;Q9UBC2;G3V0H2	.;.;.;EP15R_HUMAN;.	T	28	ENSP00000393313:P28T;ENSP00000248070:P28T;ENSP00000440103:P28T	ENSP00000248070:P28T	P	-	1	0	EPS15L1	16413786	1.000000	0.71417	0.843000	0.33291	0.004000	0.04260	7.276000	0.78559	1.265000	0.44215	0.655000	0.94253	CCG	EPS15L1	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000127527		0.507	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	-	0	31	0	G	NM_021235		16552786	-1	tier1	-	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	T	T	16552786	G	T	16552786	3	4	21	1	0	0	0	0	1	0	0	0	5209	1174	41	3	2596	3	EPS15L1	19	16552786	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	2030420	16552786	42576197	421	5808											
SSBP4	170463	genome.wustl.edu	37	chr19	18543996	18543996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggccgccatgagcgcgatgGagcctcaccacgtgaacgga	9	5	14	13	5	1	2	1	2	0	0	1	5	1	4	4	3	3	0	4	3	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:18543996G>C	ENST00000270061.7	+	15	1258	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	SSBP4_ENST00000599699.2_5'Flank|SSBP4_ENST00000348495.6_Missense_Mutation_p.E300Q	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	322						nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(2)|kidney(1)|skin(1)	4						GAGCGCGATGGAGCCTCACCA	0.726																																																	0													14	14	14					19																	18543996		2182	4267	6449	SO:0001583	missense	0				CCDS12378.1, CCDS32960.1	19p13.1	2008-02-05				ENSG00000130511			15676	protein-coding gene	gene with protein product		607391				12079286	Standard	NM_032627		Approved		uc002niy.3	Q9BWG4		ENST00000270061.7:c.964G>C	19.37:g.18543996G>C	ENSP00000270061:p.Glu322Gln		Q9BWW5	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.E322Q	ENST00000270061.7	37	c.964	CCDS12378.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121434	0.77436	.	.	ENSG00000130511	ENST00000270061;ENST00000348495	.	.	.	3.55	3.55	0.40652	.	0.000000	0.64402	U	0.000002	T	0.68458	0.3003	M	0.67397	2.05	0.50313	D	0.999862	D;D	0.67145	0.988;0.996	D;D	0.72075	0.948;0.976	T	0.65228	-0.6219	9	0.18276	T	0.48	-14.8518	11.0141	0.47679	0.0:0.0:1.0:0.0	.	300;322	Q9BWW5;Q9BWG4	.;SSBP4_HUMAN	Q	322;300	.	ENSP00000270061:E322Q	E	+	1	0	SSBP4	18404996	1.000000	0.71417	0.985000	0.45067	0.862000	0.49288	4.886000	0.63149	1.732000	0.51606	0.491000	0.48974	GAG	SSBP4	-	NULL	ENSG00000130511		0.726	SSBP4-002	KNOWN	basic|CCDS	protein_coding	SSBP4	HGNC	protein_coding	OTTHUMT00000466348.3	-	0	20	0	G	NM_032627		18543996	1	tier1	-	no_errors	ENST00000270061	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	C	C	18543996	G	C	18543996	3	2	21	1	0	0	0	0	1	0	0	0	15229	1175	41	5	1022	5	SSBP4	19	18543996	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	1991210	18543996	40584987	422	5809											
KIAA0892	23383	genome.wustl.edu	37	chr19	19460134	19460134	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccatgttctccttgtcagGcgatttctgcgggaaactct	6	14	10	11	2	4	0	1	0	3	0	6	2	5	1	2	2	2	1	2	2	1	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:19460134G>T	ENST00000392313.6	+	16	1616	c.1437G>T	c.(1435-1437)aaG>aaT	p.K479N	MAU2_ENST00000262815.8_Splice_Site_p.K479N	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	479					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TCCTTGTCAGGCGATTTCTGC	0.592																																																	0													185	177	179					19																	19460134		2203	4300	6503	SO:0001630	splice_region_variant	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1437-1G>T	19.37:g.19460134G>T			Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.K479N	ENST00000392313.6	37	c.1437	CCDS32969.2	19	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237392	0.58886	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.63417	-0.04;-0.04	5.13	1.79	0.24919	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.74275	0.3695	M	0.76002	2.32	0.80722	D	1	P;P;D	0.89917	0.939;0.914;1.0	B;B;D	0.81914	0.402;0.254;0.995	T	0.71586	-0.4548	9	.	.	.	.	9.5703	0.39425	0.2354:0.0:0.7646:0.0	.	55;84;479	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	N	479	ENSP00000376127:K479N;ENSP00000262815:K479N	.	K	+	3	2	MAU2	19321134	1.000000	0.71417	0.633000	0.29310	0.673000	0.39480	0.924000	0.28777	0.196000	0.20367	-0.258000	0.10820	AAG	MAU2	-	pfam_Cohesin_loading_factor,smart_TPR_repeat	ENSG00000129933		0.592	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6		0	88	0	G	NM_015329	Missense_Mutation	19460134	1			no_errors	ENST00000262815	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	19460134	G	T	19460134	5	4	21	1	0	0	0	0	0	0	1	0	8223	1217	42	3	1499	3	KIAA0892	19	19460134	Splice_Site	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	916138	19460134	39668849	423	5810											
SPTBN4	57731	genome.wustl.edu	37	chr19	41003463	41003463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacctgcagagagccttcCgcacagctgagcagcacctg	11	5	10	15	1	0	2	0	1	0	1	1	3	1	2	4	0	6	5	4	0	1	1	rs138314115		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:41003463C>T	ENST00000352632.3	+	7	822	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R246C|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R246C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R246C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R246C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	246	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R246C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGAGCCTTCCGCACAGCTGA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											95	83	87					19																	41003463		2203	4300	6503	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.736C>T	19.37:g.41003463C>T	ENSP00000263373:p.Arg246Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R246C	ENST00000352632.3	37	c.736	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735138	0.69189	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.60299	0.2;0.2;0.2	3.92	2.84	0.33178	Calponin homology domain (5);	0.645014	0.13846	U	0.358703	T	0.68357	0.2992	L	0.56769	1.78	0.80722	D	1	B;D	0.76494	0.006;0.999	B;D	0.68039	0.01;0.955	T	0.65582	-0.6133	10	0.54805	T	0.06	.	9.4856	0.38928	0.5267:0.4733:0.0:0.0	.	246;246	Q9H254;Q71S06	SPTN4_HUMAN;.	C	246	ENSP00000263373:R246C;ENSP00000340345:R246C;ENSP00000340741:R246C	ENSP00000340345:R246C	R	+	1	0	SPTBN4	45695303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.504000	0.73704	0.815000	0.34398	0.460000	0.39030	CGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000160460		0.642	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0	43	0	C			41003463	1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	41003463	C	T	41003463	3	4	21	1	0	0	0	0	1	0	0	0	15168	652	23	1	758	1	SPTBN4	19	41003463	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	21543329	41003463	18125520	424	5811											
HNRNPUL1	11100	genome.wustl.edu	37	chr19	41798231	41798231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgctttccgaatccagaagGaagccttggggggtcaggcc	8	9	14	10	1	1	1	1	0	0	1	3	3	3	2	4	5	2	1	4	5	3	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:41798231G>C	ENST00000392006.3	+	8	1254	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E261Q|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E272Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E247Q|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E261Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E361Q|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E261Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	361	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AATCCAGAAGGAAGCCTTGGG	0.488																																																	0													149	149	149					19																	41798231		2203	4300	6503	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1081G>C	19.37:g.41798231G>C	ENSP00000375863:p.Glu361Gln		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.E361Q	ENST00000392006.3	37	c.1081	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.164230	0.94727	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.04	6.04	0.98038	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.090758	0.85682	D	0.000000	T	0.79021	0.4376	L	0.55213	1.73	0.53688	D	0.999976	D;P;D;D;P;P	0.65815	0.984;0.784;0.995;0.988;0.766;0.744	D;P;D;P;P;B	0.66979	0.944;0.643;0.948;0.844;0.593;0.406	T	0.76782	-0.2832	10	0.48119	T	0.1	-10.5998	19.3663	0.94464	0.0:0.0:1.0:0.0	.	272;261;361;247;361;261	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	Q	261;361;247;272	ENSP00000340857:E261Q;ENSP00000375863:E361Q;ENSP00000367460:E247Q;ENSP00000263367:E272Q	ENSP00000263367:E272Q	E	+	1	0	HNRNPUL1	46490071	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.808000	0.99193	2.873000	0.98535	0.563000	0.77884	GAA	HNRNPUL1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000105323		0.488	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1		0	42	0	G	NM_144732, NM_007040		41798231	1			no_errors	ENST00000392006	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	C	C	41798231	G	C	41798231	3	2	21	1	0	0	0	0	1	0	0	0	7301	1175	41	5	1111	5	HNRNPUL1	19	41798231	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	794768	41798231	17330752	425	5812											
GSK3A	2931	genome.wustl.edu	37	chr19	42737477	42737478	+	Frame_Shift_Ins	INS	-	-	GG																															ggtccaccccactgtccccaINSgggaagatgggctggcccaa																										TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:42737477_42737478insGG	ENST00000222330.3	-	7	1089_1090	c.962_963insCC	c.(961-963)cctfs	p.P321fs	GSK3A_ENST00000398249.4_Frame_Shift_Ins_p.P239fs	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	321	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CACTGTCCCCAGGGAAGATGGG	0.649																																																	0																																										SO:0001589	frameshift_variant	0				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.961_962dupCC	19.37:g.42737478_42737479dupGG	ENSP00000222330:p.Pro321fs		O14959	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G322fs	ENST00000222330.3	37	c.963_962	CCDS12599.1	19																																																																																			GSK3A	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105723		0.649	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1		0	22	0	-			42737478	-1	tier1		no_errors	ENST00000222330	ensembl	human	known	74_37	frame_shift_ins	15.00	17	3	INS	0.956:1.000	GG	GG	42737478	-	GG	42737477	7	5	21	1	0	1	1	0	0	0	0	0	6850	175	7	0	508	0	GSK3A	19	42737477	Frame_Shift_Ins	INS	-	TCGA-IG-A4P3-01A-11D-A27G-09	939246	42737477	16391506	426	5813											
IZUMO1	284359	genome.wustl.edu	37	chr19	49248893	49248893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctcaccaacgacccccAtataggcatcctcattaagc	11	8	5	17	1	2	0	2	0	0	0	3	1	3	0	5	1	3	1	5	1	4	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:49248893A>G	ENST00000332955.2	-	2	771	c.224T>C	c.(223-225)aTg>aCg	p.M75T		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	75					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AACGACCCCCATATAGGCATC	0.577																																																	0													126	107	113					19																	49248893		2203	4300	6503	SO:0001583	missense	0			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.224T>C	19.37:g.49248893A>G	ENSP00000327786:p.Met75Thr		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	NULL	p.M75T	ENST00000332955.2	37	c.224	CCDS12732.1	19	.	.	.	.	.	.	.	.	.	.	A	12.15	1.851486	0.32699	.	.	ENSG00000182264	ENST00000332955	T	0.22945	1.93	5.03	5.03	0.67393	.	0.549004	0.17114	N	0.186520	T	0.24470	0.0593	L	0.42245	1.32	0.25774	N	0.98481	P	0.45827	0.867	B	0.41202	0.35	T	0.17319	-1.0373	10	0.87932	D	0	-25.1401	11.7233	0.51696	1.0:0.0:0.0:0.0	.	75	Q8IYV9	IZUM1_HUMAN	T	75	ENSP00000327786:M75T	ENSP00000327786:M75T	M	-	2	0	IZUMO1	53940705	0.937000	0.31787	0.915000	0.36163	0.071000	0.16799	2.561000	0.45905	2.200000	0.70718	0.459000	0.35465	ATG	IZUMO1	-	NULL	ENSG00000182264		0.577	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	HGNC	protein_coding	OTTHUMT00000466189.1	-	0	47	0	A	NM_182575		49248893	-1	tier1	-	no_errors	ENST00000332955	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.957	G	G	49248893	A	G	49248893	3	3	21	1	0	0	0	0	1	0	0	0	7960	217	8	4	864	4	IZUMO1	19	49248893	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	6511416	49248893	9880090	427	5814											
CLEC11A	6320	genome.wustl.edu	37	chr19	51226822	51226822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctttggtggtccccCagctcttgggctttggccat	2	13	15	11	0	1	0	0	0	1	0	2	0	2	0	3	6	1	3	3	6	0	3	rs370035526		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:51226822C>A	ENST00000250340.4	+	1	237	c.40C>A	c.(40-42)Cag>Aag	p.Q14K	CLEC11A_ENST00000599973.1_Missense_Mutation_p.Q14K	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	14					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGTGGTCCCCCAGCTCTTGGG	0.647																																																	0													61	64	63					19																	51226822		2203	4300	6503	SO:0001583	missense	0			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"C-type lectin domain containing"	10576	protein-coding gene	gene with protein product		604713	"stem cell growth factor; lymphocyte secreted C-type lectin"	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.40C>A	19.37:g.51226822C>A	ENSP00000250340:p.Gln14Lys		B2RAD4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q14K	ENST00000250340.4	37	c.40	CCDS12800.1	19	.	.	.	.	.	.	.	.	.	.	C	15.54	2.865186	0.51482	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.39997	1.05	3.24	3.24	0.37175	.	0.271244	0.19782	N	0.106188	T	0.29256	0.0728	L	0.27053	0.805	0.25126	N	0.990602	B	0.23316	0.083	B	0.19391	0.025	T	0.28744	-1.0034	10	0.72032	D	0.01	-8.8472	10.16	0.42847	0.0:1.0:0.0:0.0	.	14	Q9Y240	CLC11_HUMAN	K	14	ENSP00000250340:Q14K	ENSP00000250340:Q14K	Q	+	1	0	CLEC11A	55918634	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	1.942000	0.40243	1.830000	0.53286	0.462000	0.41574	CAG	CLEC11A	-	NULL	ENSG00000105472		0.647	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	-	0	39	0	C	NM_002975		51226822	1	tier1	-	no_errors	ENST00000250340	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.901	A	A	51226822	C	A	51226822	3	1	21	1	0	0	0	0	1	0	0	0	3503	595	21	3	42	3	CLEC11A	19	51226822	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1977929	51226822	7902161	428	5815											
C19orf18	147685	genome.wustl.edu	37	chr19	58472903	58472903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgagctgttgtctttcctCagcctgtgccagtcgactgg	4	13	11	13	2	2	0	1	0	1	0	5	2	3	0	3	1	3	2	3	1	0	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr19:58472903C>G	ENST00000314391.3	-	5	489	c.388G>C	c.(388-390)Gag>Cag	p.E130Q		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	130						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TGTCTTTCCTCAGCCTGTGCC	0.433																																																	0													126	115	119					19																	58472903		2203	4300	6503	SO:0001583	missense	0			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.388G>C	19.37:g.58472903C>G	ENSP00000321519:p.Glu130Gln			Missense_Mutation	SNP	NULL	p.E130Q	ENST00000314391.3	37	c.388	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239393	0.39598	.	.	ENSG00000177025	ENST00000314391	T	0.59906	0.23	4.14	4.14	0.48551	.	0.000000	0.46145	D	0.000313	T	0.64483	0.2602	L	0.34521	1.04	0.28703	N	0.903985	D	0.89917	1.0	D	0.91635	0.999	T	0.59451	-0.7452	10	0.87932	D	0	-44.2751	12.212	0.54386	0.0:1.0:0.0:0.0	.	130	Q8NEA5	CS018_HUMAN	Q	130	ENSP00000321519:E130Q	ENSP00000321519:E130Q	E	-	1	0	C19orf18	63164715	0.966000	0.33281	0.913000	0.36048	0.173000	0.22820	2.704000	0.47118	2.596000	0.87737	0.462000	0.41574	GAG	C19orf18	-	NULL	ENSG00000177025		0.433	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	HGNC	protein_coding	OTTHUMT00000466704.1		0	32	0	C	NM_152474		58472903	-1			no_errors	ENST00000314391	ensembl	human	known	74_37	missense	13.04	19	3	SNP	0.923	G	G	58472903	C	G	58472903	3	3	21	1	0	0	0	0	1	0	0	0	1917	835	29	5	267	5	C19orf18	19	58472903	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	7246081	58472903	656080	429	5816											
NAA20	51126	genome.wustl.edu	37	chr20	20013246	20013246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctacagtgtatataggacgGtcatagagtactattcggcc	11	11	11	8	2	1	1	1	0	0	1	2	2	1	2	1	3	2	3	1	3	7	8			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:20013246G>T	ENST00000334982.4	+	5	681	c.400G>T	c.(400-402)Gtc>Ttc	p.V134F	NAA20_ENST00000398602.2_Missense_Mutation_p.V122F|NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	134	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						ATATAGGACGGTCATAGAGTA	0.443																																																	0													98	91	94					20																	20013246		2203	4300	6503	SO:0001583	missense	0			AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"N(alpha)-acetyltransferase subunits"	15908	protein-coding gene	gene with protein product	"N-acetyltransferase 3 homolog (S. cerevisiae)"	610833	"N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)", "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)", "N-acetyltransferase 5", "N-acetyltransferase 5 (GCN5-related, putative)"	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.400G>T	20.37:g.20013246G>T	ENSP00000335636:p.Val134Phe		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V134F	ENST00000334982.4	37	c.400	CCDS13141.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.101582	0.94245	.	.	ENSG00000173418	ENST00000334982;ENST00000398602	T;T	0.68181	0.3;-0.31	5.62	5.62	0.85841	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.132351	0.51477	D	0.000086	D	0.86981	0.6064	H	0.95079	3.62	0.80722	D	1	P;D	0.65815	0.703;0.995	P;D	0.64410	0.664;0.925	D	0.90526	0.4492	9	.	.	.	-12.62	18.4866	0.90831	0.0:0.0:1.0:0.0	.	122;134	A8MZB2;P61599	.;NAA20_HUMAN	F	134;122	ENSP00000335636:V134F;ENSP00000381603:V122F	.	V	+	1	0	NAA20	19961246	1.000000	0.71417	0.986000	0.45419	0.764000	0.43329	9.700000	0.98707	2.664000	0.90586	0.650000	0.86243	GTC	NAA20	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000173418		0.443	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA20	HGNC	protein_coding	OTTHUMT00000078217.2	-	0	30	0	G	NM_016100		20013246	1	tier1	-	no_errors	ENST00000334982	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	20013246	G	T	20013246	3	4	21	1	0	0	0	0	1	0	0	0	10158	1261	44	3	439	3	NAA20	20	20013246	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		20013246	43012274	430	5817											
ZNF337	26152	genome.wustl.edu	37	chr20	25655911	25655911	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgccagtggtgtctggtGagacttctcttccagctgaa	7	12	11	11	1	2	2	0	2	2	1	5	3	4	2	3	2	1	1	3	2	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:25655911G>T	ENST00000376436.1	-	4	2552	c.2013C>A	c.(2011-2013)ctC>ctA	p.L671L	ZNF337_ENST00000538750.1_Silent_p.L639L|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Silent_p.L671L|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGTCTGGTGAGACTTCTCT	0.512																																																	0													101	95	97					20																	25655911		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.2013C>A	20.37:g.25655911G>T			B4DSM2|Q9Y3Y5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L671	ENST00000376436.1	37	c.2013	CCDS13174.1	20																																																																																			ZNF337	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130684		0.512	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1	-	0	51	0	G			25655911	-1	tier1	-	no_errors	ENST00000252979	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.003	T	T	25655911	G	T	25655911	2	4	21	1	0	0	0	0	0	0	0	1	17901	1277	45	3		3	ZNF337	20	25655911	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5642665	25655911	37369609	431	5818											
TPX2	22974	genome.wustl.edu	37	chr20	30380547	30380547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcctttcagggtgttcctGaaaagaaggtacttccaatc	11	12	8	10	0	1	2	1	1	0	1	5	2	4	2	3	2	1	2	3	2	5	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:30380547G>C	ENST00000300403.6	+	13	1951	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q	TPX2_ENST00000340513.4_Missense_Mutation_p.E511Q	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	475					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GGGTGTTCCTGAAAAGAAGGT	0.428																																																	0													148	138	142					20																	30380547		2203	4300	6503	SO:0001583	missense	0			AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"chromosome 20 open reading frame 1", "TPX2, microtubule-associated, homolog (Xenopus laevis)"	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1423G>C	20.37:g.30380547G>C	ENSP00000300403:p.Glu475Gln		Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.E511Q	ENST00000300403.6	37	c.1531	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622257	0.46840	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32753	1.44	5.85	4.85	0.62838	.	0.193819	0.43919	D	0.000517	T	0.22589	0.0545	N	0.21282	0.65	0.49915	D	0.999833	P;P	0.40282	0.659;0.711	B;B	0.39119	0.284;0.291	T	0.02098	-1.1214	10	0.36615	T	0.2	-21.4246	14.2259	0.65858	0.0:0.2685:0.7315:0.0	.	511;475	Q96RR5;Q9ULW0	.;TPX2_HUMAN	Q	475;511	ENSP00000341145:E511Q	ENSP00000300403:E475Q	E	+	1	0	TPX2	29844208	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	5.840000	0.69402	2.770000	0.95276	0.650000	0.86243	GAA	TPX2	-	pfam_TPX2_central_dom	ENSG00000088325		0.428	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	HGNC	protein_coding	OTTHUMT00000078569.2	-	0	32	0	G			30380547	1	tier1	-	no_errors	ENST00000340513	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	C	C	30380547	G	C	30380547	3	2	21	1	0	0	0	0	1	0	0	0	16480	1291	45	5	1465	5	TPX2	20	30380547	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4724636	30380547	32644973	432	5819											
HCK	3055	genome.wustl.edu	37	chr20	30671780	30671780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatccggaccctggacaacGggggcttctacatatccccc	9	7	10	15	2	1	1	0	0	1	1	3	3	3	3	4	4	2	1	4	4	3	3	rs200896933		TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:30671780G>A	ENST00000520553.1	+	7	799	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	HCK_ENST00000538448.1_Missense_Mutation_p.G185R|HCK_ENST00000534862.1_Missense_Mutation_p.G186R|HCK_ENST00000375852.2_Missense_Mutation_p.G206R|HCK_ENST00000518730.1_Missense_Mutation_p.G184R|HCK_ENST00000375862.2_Missense_Mutation_p.G205R	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	206	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCTGGACAACGGGGGCTTCTA	0.567																																																	0													75	75	75					20																	30671780		2203	4300	6503	SO:0001583	missense	0			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.553G>A	20.37:g.30671780G>A	ENSP00000429848:p.Gly185Arg		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.G206R	ENST00000520553.1	37	c.616	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929030	0.92389	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.0	5.0	0.66597	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.70430	0.3223	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79249	-0.1881	10	0.87932	D	0	.	17.4688	0.87640	0.0:0.0:1.0:0.0	.	184;206	P08631-3;P08631	.;HCK_HUMAN	R	186;185;205;185;184;206	ENSP00000444986:G186R;ENSP00000441169:G185R;ENSP00000365022:G205R;ENSP00000429848:G185R;ENSP00000427757:G184R;ENSP00000365012:G206R	ENSP00000365012:G206R	G	+	1	0	HCK	30135441	1.000000	0.71417	0.926000	0.36857	0.798000	0.45092	9.657000	0.98554	2.619000	0.88677	0.555000	0.69702	GGG	HCK	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000101336		0.567	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1		0	25	0	G			30671780	1			no_errors	ENST00000375852	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	A	A	30671780	G	A	30671780	3	1	21	1	0	0	0	0	1	0	0	0	7021	1116	39	1	648	1	HCK	20	30671780	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	291233	30671780	32353740	433	5820											
KIAA0406	9675	genome.wustl.edu	37	chr20	36625251	36625251	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtccagccctggcactGatgggggcctgggtgactag	6	8	16	11	0	0	2	0	2	0	0	1	2	1	2	3	5	1	1	3	5	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:36625251G>T	ENST00000373448.2	-	7	3136	c.2898C>A	c.(2896-2898)atC>atA	p.I966I	TTI1_ENST00000449821.1_Silent_p.I966I|TTI1_ENST00000373447.3_Silent_p.I966I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	966					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCCTGGCACTGATGGGGGCCT	0.597																																																	0													94	99	97					20																	36625251		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2898C>A	20.37:g.36625251G>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.I966	ENST00000373448.2	37	c.2898	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.597	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2		0	26	0	G	NM_014657		36625251	-1			no_errors	ENST00000373447	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T	T	36625251	G	T	36625251	2	4	21	1	0	0	0	0	0	0	0	1	8200	1280	45	3		3	KIAA0406	20	36625251	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	5953471	36625251	26400269	434	5821											
CHD6	84181	genome.wustl.edu	37	chr20	40045236	40045236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccggctcaccttgtggaTctgggccgccaatgctgcgc	4	10	13	14	3	2	0	1	0	1	0	2	1	2	1	4	3	3	2	4	3	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:40045236T>C	ENST00000373233.3	-	33	6655	c.6478A>G	c.(6478-6480)Atc>Gtc	p.I2160V	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2160					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCTTGTGGATCTGGGCCGCC	0.532																																																	0													94	83	87					20																	40045236		2203	4300	6503	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6478A>G	20.37:g.40045236T>C	ENSP00000362330:p.Ile2160Val		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.I2160V	ENST00000373233.3	37	c.6478	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	T	2.897	-0.228428	0.06022	.	.	ENSG00000124177	ENST00000373233	D	0.85088	-1.94	5.46	0.495	0.16890	.	0.208545	0.34507	N	0.003906	T	0.69287	0.3094	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51513	-0.8696	10	0.29301	T	0.29	-2.0655	6.224	0.20698	0.0:0.4243:0.1468:0.4289	.	2160	Q8TD26	CHD6_HUMAN	V	2160	ENSP00000362330:I2160V	ENSP00000362330:I2160V	I	-	1	0	CHD6	39478650	0.998000	0.40836	0.983000	0.44433	0.086000	0.17979	0.594000	0.24014	-0.114000	0.11936	0.533000	0.62120	ATC	CHD6	-	NULL	ENSG00000124177		0.532	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	-	0	33	0	T			40045236	-1	tier1	-	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	17.02	39	8	SNP	0.940	C	C	40045236	T	C	40045236	3	2	21	1	0	0	0	0	1	0	0	0	3336	1435	50	4	1689	4	CHD6	20	40045236	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09	3419985	40045236	22980284	435	5822											
NCOA5	57727	genome.wustl.edu	37	chr20	44691014	44691014	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtctggctaaccaggtgGgagagagcagggccactctg	8	7	17	9	0	2	1	0	0	2	1	2	3	2	2	2	5	2	2	2	5	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:44691014G>T	ENST00000290231.6	-	8	1829	c.1665C>A	c.(1663-1665)tcC>tcA	p.S555S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	555	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TAACCAGGTGGGAGAGAGCAG	0.537																																																	0													62	53	56					20																	44691014		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1665C>A	20.37:g.44691014G>T			B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Silent	SNP	superfamily_Anticodon-bd	p.S555	ENST00000290231.6	37	c.1665	CCDS13392.1	20																																																																																			NCOA5	-	NULL	ENSG00000124160		0.537	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	-	0	56	0	G	NM_020967		44691014	-1	tier1	-	no_errors	ENST00000290231	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.998	T	T	44691014	G	T	44691014	2	4	21	1	0	0	0	0	0	0	0	1	10271	1219	43	3		3	NCOA5	20	44691014	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4645778	44691014	18334506	436	5823											
GMEB2	26205	genome.wustl.edu	37	chr20	62223484	62223484	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttctgcacgatgttgttGagaagtacagcatcttaaag	13	12	10	6	1	2	1	0	1	2	1	2	3	2	1	0	0	3	6	0	0	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr20:62223484G>C	ENST00000266068.1	-	8	1321	c.843C>G	c.(841-843)ctC>ctG	p.L281L	GMEB2_ENST00000370069.1_Silent_p.L230L|GMEB2_ENST00000370077.1_Silent_p.L281L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	281					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGATGTTGTTGAGAAGTACAG	0.607																																																	0													109	82	91					20																	62223484		2203	4300	6503	SO:0001819	synonymous_variant	0			AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.843C>G	20.37:g.62223484G>C			E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Silent	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom	p.L281	ENST00000266068.1	37	c.843	CCDS13528.1	20																																																																																			GMEB2	-	superfamily_Sig_transdc_His_kin_Hpt_dom	ENSG00000101216		0.607	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMEB2	HGNC	protein_coding	OTTHUMT00000080166.1	-	0	26	0	G	NM_012384		62223484	-1	tier1	-	no_errors	ENST00000266068	ensembl	human	known	74_37	silent	42.31	15	11	SNP	1.000	C	C	62223484	G	C	62223484	2	2	21	1	0	0	0	0	0	0	0	1	6514	1277	45	5		5	GMEB2	20	62223484	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	17532470	62223484	802036	437	5824											
DOPEY2	9980	genome.wustl.edu	37	chr21	37597889	37597889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcgttacagcgtgaGgaacagcgtcagccctcccc	10	5	12	14	3	1	1	1	1	0	0	2	3	2	2	3	1	7	2	3	1	3	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr21:37597889G>T	ENST00000399151.3	+	12	1482	c.1397G>T	c.(1396-1398)aGg>aTg	p.R466M		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	466					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TACAGCGTGAGGAACAGCGTC	0.522																																																	0																																										SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1397G>T	21.37:g.37597889G>T	ENSP00000382104:p.Arg466Met		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.R466M	ENST00000399151.3	37	c.1397	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287298	0.23478	.	.	ENSG00000142197	ENST00000399151	T	0.12672	2.66	5.11	2.09	0.27110	.	1.249050	0.05278	N	0.518785	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B;B	0.24963	0.115;0.07	B;B	0.17098	0.017;0.007	T	0.30995	-0.9959	10	0.45353	T	0.12	-8.9507	4.1399	0.10188	0.2776:0.1728:0.5496:0.0	.	466;466	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	M	466	ENSP00000382104:R466M	ENSP00000382104:R466M	R	+	2	0	DOPEY2	36519759	0.006000	0.16342	0.002000	0.10522	0.002000	0.02628	1.252000	0.32874	0.814000	0.34374	0.655000	0.94253	AGG	DOPEY2	-	NULL	ENSG00000142197		0.522	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	-	0	68	0	G	NM_005128		37597889	1	tier1	-	no_errors	ENST00000399151	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.002	T	T	37597889	G	T	37597889	3	4	21	1	0	0	0	0	1	0	0	0	4722	1000	35	3	1439	3	DOPEY2	21	37597889	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		37597889	10532006	438	5825											
HLCS	3141	genome.wustl.edu	37	chr21	38137350	38137350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcactgcttccacgacaGccacggacatcagatgctgg	10	7	9	15	2	2	1	2	0	0	1	3	3	3	2	3	2	3	2	3	2	0	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr21:38137350G>T	ENST00000399120.1	-	9	2873	c.1643C>A	c.(1642-1644)gCt>gAt	p.A548D	HLCS_ENST00000336648.4_Missense_Mutation_p.A548D	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	548	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCACGACAGCCACGGACAT	0.522																																																	0													149	120	130					21																	38137350		2203	4300	6503	SO:0001583	missense	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1643C>A	21.37:g.38137350G>T	ENSP00000382071:p.Ala548Asp		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.A548D	ENST00000399120.1	37	c.1643	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780011	0.90195	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98105	-4.72;-4.72	5.68	5.68	0.88126	Biotin/lipoate A/B protein ligase (1);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98344	1.0540	10	0.87932	D	0	.	19.4034	0.94640	0.0:0.0:1.0:0.0	.	548	P50747	BPL1_HUMAN	D	548	ENSP00000382071:A548D;ENSP00000338387:A548D	ENSP00000338387:A548D	A	-	2	0	HLCS	37059220	1.000000	0.71417	0.944000	0.38274	0.653000	0.38743	8.598000	0.90852	2.678000	0.91216	0.561000	0.74099	GCT	HLCS	-	pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase	ENSG00000159267		0.522	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	-	0	48	0	G			38137350	-1	tier1	-	no_errors	ENST00000336648	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	38137350	G	T	38137350	3	4	21	1	0	0	0	0	1	0	0	0	7240	971	34	3	553	3	HLCS	21	38137350	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	539461	38137350	9992545	439	5826											
TTC3	7267	genome.wustl.edu	37	chr21	38462544	38462544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttcagaatgattcattCcttattggaggcttattgag	10	18	8	5	0	2	3	2	2	0	1	3	4	3	4	1	2	0	1	1	2	3	8			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr21:38462544C>A	ENST00000399017.2	+	6	3185	c.438C>A	c.(436-438)ttC>ttA	p.F146L	TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.F146L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.F146L|TTC3_ENST00000354749.2_Missense_Mutation_p.F146L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	146					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGATTCATTCCTTATTGGAG	0.338																																					Ovarian(38;194 1649 35661)												0													79	80	80					21																	38462544		2202	4300	6502	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.438C>A	21.37:g.38462544C>A	ENSP00000381981:p.Phe146Leu		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.F146L	ENST00000399017.2	37	c.438	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	15.17	2.752994	0.49362	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000355666;ENST00000399010;ENST00000399017;ENST00000354749	T;T;T;T;T	0.48201	2.66;0.82;2.98;2.98;2.98	5.62	3.8	0.43715	.	0.343984	0.24866	N	0.034962	T	0.38268	0.1034	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17289	-1.0374	10	0.19147	T	0.46	-7.893	6.7308	0.23383	0.0:0.7419:0.0:0.2581	.	146	P53804	TTC3_HUMAN	L	146	ENSP00000403943:F146L;ENSP00000408456:F146L;ENSP00000347889:F146L;ENSP00000381981:F146L;ENSP00000346791:F146L	ENSP00000346791:F146L	F	+	3	2	TTC3	37384414	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.681000	0.25320	1.373000	0.46208	0.650000	0.86243	TTC	TTC3	-	NULL	ENSG00000182670		0.338	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0	38	0	C			38462544	1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	A	A	38462544	C	A	38462544	3	1	21	1	0	0	0	0	1	0	0	0	16746	854	30	3	456	3	TTC3	21	38462544	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	325194	38462544	9667351	440	5827											
MCM3AP	8888	genome.wustl.edu	37	chr21	47704488	47704488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttccaaatattgacttaGgtcctctcttctcttcctct	8	17	3	13	0	3	1	0	1	3	0	8	1	6	1	3	1	1	0	3	1	4	6			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr21:47704488G>T	ENST00000397708.1	-	2	967	c.713C>A	c.(712-714)cCt>cAt	p.P238H	YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000339195.6_5'Flank|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.P238H|YBEY_ENST00000329319.3_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	238	FG-repeats.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TATTGACTTAGGTCCTCTCTT	0.398																																																	0													85	89	88					21																	47704488		2203	4300	6503	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.713C>A	21.37:g.47704488G>T	ENSP00000380820:p.Pro238His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.P238H	ENST00000397708.1	37	c.713	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	G	15.57	2.874140	0.51695	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.17854	2.25;2.25	5.42	3.62	0.41486	.	0.389746	0.28940	N	0.013644	T	0.19886	0.0478	L	0.27053	0.805	0.09310	N	0.999999	D	0.58620	0.983	P	0.54499	0.754	T	0.03739	-1.1008	10	0.52906	T	0.07	-3.3462	10.4613	0.44581	0.1585:0.0:0.8415:0.0	.	238	O60318	MCM3A_HUMAN	H	238	ENSP00000380820:P238H;ENSP00000291688:P238H	ENSP00000291688:P238H	P	-	2	0	MCM3AP	46528916	0.817000	0.29147	0.003000	0.11579	0.829000	0.46940	3.446000	0.52928	0.669000	0.31146	0.563000	0.77884	CCT	MCM3AP	-	NULL	ENSG00000160294		0.398	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	-	0	73	0	G	NM_003906		47704488	-1	tier1	-	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.261	T	T	47704488	G	T	47704488	3	4	21	1	0	0	0	0	1	0	0	0	9426	1000	35	3	5341	3	MCM3AP	21	47704488	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	9241944	47704488	425407	441	5828											
CCT8L2	150160	genome.wustl.edu	37	chr22	17072414	17072414	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggcacttgcctggccTctggggagggagcagacgag	6	7	16	12	1	2	1	0	0	2	1	2	4	2	3	3	5	2	2	3	5	0	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:17072414T>A	ENST00000359963.3	-	1	1286	c.1027A>T	c.(1027-1029)Agg>Tgg	p.R343W		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	343					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTGCCTGGCCTCTGGGGAGGG	0.547																																																	0													104	103	103					22																	17072414		2203	4300	6503	SO:0001583	missense	0			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1027A>T	22.37:g.17072414T>A	ENSP00000353048:p.Arg343Trp		A4QPH3|Q9UJS3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.R343W	ENST00000359963.3	37	c.1027	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	t	4.974	0.180926	0.09443	.	.	ENSG00000198445	ENST00000359963	T	0.78595	-1.19	1.98	-1.38	0.09027	.	1.610060	0.03911	U	0.281869	T	0.55369	0.1916	N	0.08118	0	0.09310	N	1	P	0.44090	0.826	B	0.35813	0.211	T	0.54207	-0.8328	10	0.87932	D	0	-1.3139	5.4805	0.16721	0.0:0.5797:0.0:0.4203	.	343	Q96SF2	TCPQM_HUMAN	W	343	ENSP00000353048:R343W	ENSP00000353048:R343W	R	-	1	2	CCT8L2	15452414	0.000000	0.05858	0.498000	0.27564	0.110000	0.19582	-0.296000	0.08287	-0.327000	0.08551	0.312000	0.20444	AGG	CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000198445		0.547	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	-	0	63	0	T			17072414	-1	tier1	-	no_errors	ENST00000359963	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.406	A	A	17072414	T	A	17072414	3	1	21	1	0	0	0	0	1	0	0	0	2968	1550	54	5	650	5	CCT8L2	22	17072414	Missense_Mutation	SNP	T	TCGA-IG-A4P3-01A-11D-A27G-09		17072414	34232152	442	5829											
DGCR2	9993	genome.wustl.edu	37	chr22	19028769	19028769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacccgtctgggccgtaatCaaagccagggatcctgcggc	10	6	12	13	3	2	0	1	0	1	0	3	1	3	1	4	3	3	1	4	3	3	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:19028769C>G	ENST00000263196.7	-	9	1445	c.1198G>C	c.(1198-1200)Gat>Cat	p.D400H	DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Missense_Mutation_p.D359H	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	400					cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GGGCCGTAATCAAAGCCAGGG	0.607																																																	0													83	77	79					22																	19028769		2203	4300	6503	SO:0001583	missense	0			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.1198G>C	22.37:g.19028769C>G	ENSP00000263196:p.Asp400His		A6NIB5|A8K6K5|B5TY34|B7Z935	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin	p.D400H	ENST00000263196.7	37	c.1198	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.276457	0.95459	.	.	ENSG00000070413	ENST00000537045;ENST00000263196	T;D	0.97710	0.62;-4.5	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99449	1.0940	10	0.72032	D	0.01	.	20.0384	0.97572	0.0:1.0:0.0:0.0	.	356;400	B7Z3T5;P98153	.;IDD_HUMAN	H	359;400	ENSP00000440062:D359H;ENSP00000263196:D400H	ENSP00000263196:D400H	D	-	1	0	DGCR2	17408769	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	5.979000	0.70508	2.837000	0.97791	0.655000	0.94253	GAT	DGCR2	-	NULL	ENSG00000070413		0.607	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	-	0	37	0	C	NM_005137		19028769	-1	tier1	-	no_errors	ENST00000263196	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	G	G	19028769	C	G	19028769	3	3	21	1	0	0	0	0	1	0	0	0	4475	826	29	5	462	5	DGCR2	22	19028769	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1956355	19028769	32275797	443	5830											
CLTCL1	8218	genome.wustl.edu	37	chr22	19263189	19263189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggattcatgatggcactCtctgcagagataggccgtcg	8	10	13	10	2	2	2	1	1	1	1	4	4	2	3	1	3	1	3	1	3	1	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:19263189C>G	ENST00000263200.10	-	2	279	c.207G>C	c.(205-207)gaG>gaC	p.E69D	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E69D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E69D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	69	Globular terminal domain.|WD40-like repeat 2.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TGATGGCACTCTCTGCAGAGA	0.463			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													47	47	47					22																	19263189		1926	4149	6075	SO:0001583	missense	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.207G>C	22.37:g.19263189C>G	ENSP00000445677:p.Glu69Asp		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E69D	ENST00000263200.10	37	c.207	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	3.490	-0.104112	0.06967	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926;ENST00000449918	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	4.2	-4.79	0.03200	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.273575	0.35040	N	0.003492	T	0.02342	0.0072	N	0.00985	-1.075	0.37204	D	0.904495	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.002	T	0.42899	-0.9424	10	0.02654	T	1	-10.5426	5.8085	0.18454	0.0:0.2779:0.4146:0.3075	.	69;69	P53675-2;P53675	.;CLH2_HUMAN	D	69	ENSP00000439662:E69D;ENSP00000445677:E69D;ENSP00000441158:E69D;ENSP00000443264:E69D	ENSP00000445677:E69D	E	-	3	2	CLTCL1	17643189	1.000000	0.71417	0.322000	0.25334	0.839000	0.47603	0.512000	0.22755	-1.254000	0.02485	0.650000	0.86243	GAG	CLTCL1	-	superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.463	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0	40	0	C	NM_007098		19263189	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.986	G	G	19263189	C	G	19263189	3	3	21	1	0	0	0	0	1	0	0	0	3574	912	32	5	4839	5	CLTCL1	22	19263189	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	234420	19263189	32041377	444	5831											
EWSR1	2130	genome.wustl.edu	37	chr22	29684675	29684675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccggaccaggagagaacCggagcatgagtggccctgat	10	7	14	10	2	0	3	0	2	0	1	1	7	1	6	4	4	2	1	4	4	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:29684675C>T	ENST00000397938.2	+	8	1193	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	EWSR1_ENST00000333395.6_Missense_Mutation_p.R292W|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.R292W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R292W|EWSR1_ENST00000332035.6_Missense_Mutation_p.R236W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R298W	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGAGAGAACCGGAGCATGAG	0.592			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0													58	53	55					22																	29684675		2203	4300	6503	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.874C>T	22.37:g.29684675C>T	ENSP00000381031:p.Arg292Trp		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R298W	ENST00000397938.2	37	c.892	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588766	0.46110	.	.	ENSG00000182944	ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000332035	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.94	4.87	0.63330	.	0.000000	0.64402	U	0.000001	T	0.31888	0.0811	L	0.31065	0.9	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.976	P;P;P;P;P;P	0.50082	0.63;0.63;0.63;0.535;0.535;0.489	T	0.01371	-1.1372	10	0.37606	T	0.19	.	15.9667	0.79979	0.1354:0.8646:0.0:0.0	.	236;292;236;298;292;292	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;.;EWS_HUMAN;.	W	292;292;292;298;292;236	ENSP00000381031:R292W;ENSP00000385726:R292W;ENSP00000330516:R292W;ENSP00000400142:R298W;ENSP00000327456:R292W;ENSP00000331699:R236W	ENSP00000330516:R292W	R	+	1	2	EWSR1	28014675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.399000	0.44495	2.820000	0.97059	0.650000	0.86243	CGG	EWSR1	-	NULL	ENSG00000182944		0.592	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	-	0	80	0	C	NM_005243		29684675	1	tier1	-	no_errors	ENST00000414183	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	29684675	C	T	29684675	3	4	21	1	0	0	0	0	1	0	0	0	5312	643	23	1	926	1	EWSR1	22	29684675	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	10421486	29684675	21619891	445	5832											
C22orf23	84645	genome.wustl.edu	37	chr22	38343465	38343465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactgtaggggcaaagcatCtcctcctggggaacgaagag	11	6	14	10	1	1	1	0	0	1	1	3	3	2	2	2	4	2	4	2	4	4	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:38343465C>G	ENST00000249079.2	-	4	428	c.172G>C	c.(172-174)Gat>Cat	p.D58H	C22orf23_ENST00000403305.1_Missense_Mutation_p.D58H|C22orf23_ENST00000403026.1_Missense_Mutation_p.D58H			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	58										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GGCAAAGCATCTCCTCCTGGG	0.512																																																	0													117	100	106					22																	38343465		2203	4300	6503	SO:0001583	missense	0			AF324466	CCDS13962.1, CCDS74860.1	22q13.1	2013-10-11			ENSG00000128346	ENSG00000128346			18589	protein-coding gene	gene with protein product						11237012	Standard	NM_032561		Approved	FLJ32787, EVG1, LOC84645	uc003auj.2	Q9BZE7	OTTHUMG00000150672	ENST00000249079.2:c.172G>C	22.37:g.38343465C>G	ENSP00000249079:p.Asp58His		Q5JYU9|Q96M68	Missense_Mutation	SNP	pfam_UPF0193	p.D58H	ENST00000249079.2	37	c.172	CCDS13962.1	22	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744501	0.49151	.	.	ENSG00000128346	ENST00000403305;ENST00000249079;ENST00000403026;ENST00000418863;ENST00000422191	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.38	2.2	0.27929	.	0.590794	0.17643	N	0.166969	T	0.50548	0.1622	L	0.59436	1.845	0.21105	N	0.999782	D	0.58970	0.984	P	0.57620	0.824	T	0.37641	-0.9697	10	0.56958	D	0.05	-1.3546	8.5833	0.33642	0.0:0.7609:0.0:0.2391	.	58	Q9BZE7	EVG1_HUMAN	H	58	ENSP00000384667:D58H;ENSP00000249079:D58H;ENSP00000384618:D58H;ENSP00000395077:D58H;ENSP00000407707:D58H	ENSP00000249079:D58H	D	-	1	0	C22orf23	36673411	0.271000	0.24162	0.325000	0.25375	0.626000	0.37791	0.549000	0.23329	0.265000	0.21872	0.555000	0.69702	GAT	C22orf23	-	pfam_UPF0193	ENSG00000128346		0.512	C22orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C22orf23	HGNC	protein_coding	OTTHUMT00000319564.1		0	62	0	C	NM_032561		38343465	-1			no_errors	ENST00000249079	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.310	G	G	38343465	C	G	38343465	3	3	21	1	0	0	0	0	1	0	0	0	2144	913	32	5	497	5	C22orf23	22	38343465	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	8658790	38343465	12961101	446	5833											
RPL3	6122	genome.wustl.edu	37	chr22	39708981	39708981	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcaattcggtctttcttCagtggtccctgtggggagag	5	15	13	8	1	3	1	1	0	2	1	5	2	4	1	1	4	1	1	1	4	1	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:39708981C>G	ENST00000216146.4	-	10	1349	c.1176G>C	c.(1174-1176)ctG>ctC	p.L392L	RPL3_ENST00000401609.1_Silent_p.L340L|SNORD83A_ENST00000386747.1_RNA|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	392					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.L392L(1)		breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GGTCTTTCTTCAGTGGTCCCT	0.498																																																	1	Substitution - coding silent(1)	urinary_tract(1)											70	66	67					22																	39708981		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.1176G>C	22.37:g.39708981C>G			B2RDV9|Q15548|Q5I0G0	Silent	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.L392	ENST00000216146.4	37	c.1176	CCDS13988.1	22																																																																																			RPL3	-	NULL	ENSG00000100316		0.498	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1		0	35	0	C	NM_000967		39708981	-1			no_errors	ENST00000216146	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.986	G	G	39708981	C	G	39708981	2	3	21	1	0	0	0	0	0	0	0	1	13624	813	29	5		5	RPL3	22	39708981	Silent	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	1365516	39708981	11595585	447	5834											
TCF20	6942	genome.wustl.edu	37	chr22	42557353	42557353	+	3'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccaccaccttctcatctCcacagtctcacctggaagac	9	10	5	17	0	3	1	2	0	3	1	7	2	4	2	5	1	0	0	5	1	1	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:42557353C>A	ENST00000359486.3	-	0	6075				TCF20_ENST00000335626.4_Missense_Mutation_p.W1937C|TCF20_ENST00000404876.1_3'UTR	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTCTCATCTCCACAGTCTCA	0.642																																																	0													112	79	90					22																	42557353		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.*56G>T	22.37:g.42557353C>A			A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.W1937C	ENST00000359486.3	37	c.5811	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446482	0.43429	.	.	ENSG00000100207	ENST00000335626	T	0.58797	0.31	5.31	5.31	0.75309	.	.	.	.	.	T	0.64327	0.2588	.	.	.	0.80722	D	1	D	0.58268	0.982	P	0.50378	0.639	T	0.64795	-0.6323	8	0.44086	T	0.13	.	17.5482	0.87869	0.0:1.0:0.0:0.0	.	1937	Q9UGU0-2	.	C	1937	ENSP00000335561:W1937C	ENSP00000335561:W1937C	W	-	3	0	TCF20	40887297	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.653000	0.61462	2.657000	0.90304	0.655000	0.94253	TGG	TCF20	-	NULL	ENSG00000100207		0.642	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	-	0	87	0	C	NM_181492		42557353	-1	tier1	-	no_errors	ENST00000335626	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	A	A	42557353	C	A	42557353	1	1	21	0	1	0	0	0	0	0	0	0	15737	856	30	3		3	TCF20	22	42557353	3'UTR	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	2848372	42557353	8747213	448	5835											
TRMU	55687	genome.wustl.edu	37	chr22	46752874	46752874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagtgacagcccagaaGatggtccaggcctgagtccc	9	5	12	15	0	0	4	0	2	0	2	2	4	2	4	6	2	1	0	6	2	1	0			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chr22:46752874G>T	ENST00000290846.4	+	11	1577	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y	TRMU_ENST00000381019.3_3'UTR	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	413					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		CAGCCCAGAAGATGGTCCAGG	0.637																																																	0													49	52	51					22																	46752874		2203	4300	6503	SO:0001583	missense	0			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1237G>T	22.37:g.46752874G>T	ENSP00000290846:p.Asp413Tyr		A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.D413Y	ENST00000290846.4	37	c.1237	CCDS14075.1	22	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581503	0.28180	.	.	ENSG00000100416	ENST00000290846	T	0.71579	-0.58	4.16	3.06	0.35304	.	1.375530	0.04565	N	0.392146	T	0.55049	0.1896	N	0.08118	0	0.27307	N	0.957421	P;B	0.38711	0.643;0.006	B;B	0.38056	0.264;0.016	T	0.55108	-0.8192	10	0.62326	D	0.03	.	10.3528	0.43945	0.0:0.2007:0.7993:0.0	.	259;413	O75648-4;O75648	.;MTU1_HUMAN	Y	413	ENSP00000290846:D413Y	ENSP00000290846:D413Y	D	+	1	0	TRMU	45131538	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	-0.352000	0.07701	2.042000	0.60477	0.491000	0.48974	GAT	TRMU	-	NULL	ENSG00000100416		0.637	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	-	0	63	0	G	NM_018006		46752874	1	tier1	-	no_errors	ENST00000290846	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.005	T	T	46752874	G	T	46752874	3	4	21	1	0	0	0	0	1	0	0	0	16619	942	33	3	1279	3	TRMU	22	46752874	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4195521	46752874	4551692	449	5836											
CYBB	1536	genome.wustl.edu	37	chrX	37655246	37655246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgaccctgttggcaGgcatcactggagttgtcatc	6	12	13	10	0	2	1	2	1	0	0	3	2	2	2	1	4	0	5	1	4	0	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:37655246G>T	ENST00000378588.4	+	6	593	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.G144C	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	176	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CCTGTTGGCAGGCATCACTGG	0.468																																																	0													137	105	116					X																	37655246		2202	4300	6502	SO:0001583	missense	0			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.526G>T	X.37:g.37655246G>T	ENSP00000367851:p.Gly176Cys		A8K138|Q2PP16	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.G176C	ENST00000378588.4	37	c.526	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377150	0.61735	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.96856	-4.13;-4.15	5.4	5.4	0.78164	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.98826	0.9604	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99705	1.1005	10	0.87932	D	0	.	18.3094	0.90194	0.0:0.0:1.0:0.0	.	144;176	F5GWD2;P04839	.;CY24B_HUMAN	C	176;144	ENSP00000367851:G176C;ENSP00000441896:G144C	ENSP00000367851:G176C	G	+	1	0	CYBB	37540186	1.000000	0.71417	0.996000	0.52242	0.210000	0.24377	9.476000	0.97823	2.263000	0.75096	0.538000	0.68166	GGC	CYBB	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000165168		0.468	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	-	0	39	0	G			37655246	1	tier1	-	no_errors	ENST00000378588	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	37655246	G	T	37655246	3	4	21	1	0	0	0	0	1	0	0	0	4142	1000	35	3	548	3	CYBB	23	37655246	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09		37655246	117615314	450	5837											
SLC7A3	84889	genome.wustl.edu	37	chrX	70148789	70148789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacccctgcagagtcttaGagatgtggttcccaatcagg	9	10	12	10	0	2	2	1	0	1	2	3	4	3	3	3	3	1	2	3	3	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:70148789G>C	ENST00000374299.3	-	3	578	c.434C>G	c.(433-435)tCt>tGt	p.S145C	SLC7A3_ENST00000298085.4_Missense_Mutation_p.S145C			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	145					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGTCTTAGAGATGTGGTT	0.542																																																	0													65	59	61					X																	70148789		2203	4300	6503	SO:0001583	missense	0			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"Solute carriers"	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.434C>G	X.37:g.70148789G>C	ENSP00000363417:p.Ser145Cys		D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.S145C	ENST00000374299.3	37	c.434	CCDS14404.1	X	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725405	0.48833	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.90197	-2.63;-2.63	5.16	5.16	0.70880	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.92555	3.32	0.54753	D	0.999987	D	0.67145	0.996	D	0.72075	0.976	D	0.97220	0.9877	10	0.72032	D	0.01	.	16.6231	0.84935	0.0:0.0:1.0:0.0	.	145	Q8WY07	CTR3_HUMAN	C	145	ENSP00000363417:S145C;ENSP00000298085:S145C	ENSP00000298085:S145C	S	-	2	0	SLC7A3	70065514	1.000000	0.71417	0.918000	0.36340	0.153000	0.21895	4.405000	0.59741	2.388000	0.81334	0.436000	0.28706	TCT	SLC7A3	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000165349		0.542	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A3	HGNC	protein_coding	OTTHUMT00000057080.1	-	0	22	0	G	NM_032803		70148789	-1	tier1	-	no_errors	ENST00000298085	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.997	C	C	70148789	G	C	70148789	3	2	21	1	0	0	0	0	1	0	0	0	14743	942	33	5	1465	5	SLC7A3	23	70148789	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	32493543	70148789	85121771	451	5838											
FAM133A	286499	genome.wustl.edu	37	chrX	92964880	92964880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagaatcagagagcaaGgagtctgtaaaaaagaaaaa	22	5	10	4	0	3	3	2	0	1	3	3	6	3	4	0	1	1	2	0	1	8	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:92964880G>T	ENST00000355813.5	+	4	988	c.462G>T	c.(460-462)aaG>aaT	p.K154N	FAM133A_ENST00000322139.4_Missense_Mutation_p.K154N|FAM133A_ENST00000332647.4_Missense_Mutation_p.K154N|FAM133A_ENST00000538690.1_Missense_Mutation_p.K154N	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	154	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						CAGAGAGCAAGGAGTCTGTAA	0.358																																																	0													26	23	24					X																	92964880		2203	4293	6496	SO:0001583	missense	0			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.462G>T	X.37:g.92964880G>T	ENSP00000348067:p.Lys154Asn			Missense_Mutation	SNP	NULL	p.K154N	ENST00000355813.5	37	c.462	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	9.879	1.201073	0.22121	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.0	0.133	0.14766	.	0.054389	0.64402	U	0.000001	T	0.59445	0.2194	M	0.76002	2.32	0.09310	N	0.999994	D	0.76494	0.999	D	0.78314	0.991	T	0.48875	-0.8996	10	0.44086	T	0.13	-4.8187	5.3997	0.16288	0.4388:0.0:0.5612:0.0	.	154	Q8N9E0	F133A_HUMAN	N	154	ENSP00000441389:K154N;ENSP00000348067:K154N;ENSP00000318974:K154N;ENSP00000362169:K154N	ENSP00000318974:K154N	K	+	3	2	FAM133A	92851536	0.995000	0.38212	0.404000	0.26397	0.907000	0.53573	0.731000	0.26058	-0.095000	0.12351	0.597000	0.82753	AAG	FAM133A	-	NULL	ENSG00000179083		0.358	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	-	0	26	0	G	NM_173698		92964880	1	tier1	-	no_errors	ENST00000322139	ensembl	human	known	74_37	missense	50.00	16	16	SNP	0.386	T	T	92964880	G	T	92964880	3	4	21	1	0	0	0	0	1	0	0	0	5462	991	35	3	464	3	FAM133A	23	92964880	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	22816091	92964880	62305680	452	5839											
PLP1	5354	genome.wustl.edu	37	chrX	103040564	103040564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggccccctttgcttccctgGtggccactggattgtgtttc	2	14	12	13	0	0	0	0	0	0	0	2	1	1	1	4	4	1	2	4	4	0	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:103040564G>T	ENST00000303958.2	+	2	204	c.58G>T	c.(58-60)Gtg>Ttg	p.V20L	PLP1_ENST00000361621.2_Missense_Mutation_p.V20L|PLP1_ENST00000418604.1_Missense_Mutation_p.V20L	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	20					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TGCTTCCCTGGTGGCCACTGG	0.522																																																	0													195	184	187					X																	103040564		2203	4300	6503	SO:0001583	missense	0			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"Pelizaeus-Merzbacher disease"	300401	"spastic paraplegia 2, uncomplicated"	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.58G>T	X.37:g.103040564G>T	ENSP00000305152:p.Val20Leu		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP	p.V20L	ENST00000303958.2	37	c.58	CCDS14513.1	X	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396449	0.62177	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000433491;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D;D;D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69	5.32	5.32	0.75619	.	0.118551	0.56097	D	0.000021	D	0.97253	0.9102	L	0.33339	1.005	0.43330	D	0.995363	B;B;B	0.29085	0.093;0.232;0.037	B;B;B	0.31614	0.092;0.133;0.007	D	0.95807	0.8838	10	0.62326	D	0.03	-6.5614	9.0686	0.36478	0.1018:0.0:0.8982:0.0	.	20;20;20	B1B1G6;P60201;P60201-2	.;MYPR_HUMAN;.	L	20	ENSP00000403335:V20L;ENSP00000399913:V20L;ENSP00000409802:V20L;ENSP00000413931:V20L;ENSP00000393391:V20L;ENSP00000405750:V20L;ENSP00000391853:V20L;ENSP00000305152:V20L;ENSP00000354860:V20L	ENSP00000305152:V20L	V	+	1	0	PLP1	102927220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.354000	0.73036	2.210000	0.71456	0.600000	0.82982	GTG	PLP1	-	pfam_Myelin_PLP,prints_Myelin_PLP	ENSG00000123560		0.522	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	-	0	62	0	G			103040564	1	tier1	-	no_errors	ENST00000303958	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	103040564	G	T	103040564	3	4	21	1	0	0	0	0	1	0	0	0	12143	1261	44	3	64	3	PLP1	23	103040564	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	10075684	103040564	52229996	453	5840											
ACTRT1	139741	genome.wustl.edu	37	chrX	127185305	127185305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtacaatgtctgcataaAgtttattctggatgtcagtg	12	14	10	5	0	3	1	1	0	2	1	3	2	3	2	0	1	2	3	0	1	5	5			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:127185305A>C	ENST00000371124.3	-	1	1077	c.881T>G	c.(880-882)cTt>cGt	p.L294R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	294						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTCTGCATAAAGTTTATTCTG	0.522																																																	0													98	91	93					X																	127185305		2203	4300	6503	SO:0001583	missense	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.881T>G	X.37:g.127185305A>C	ENSP00000360165:p.Leu294Arg		Q6X7C1|Q96L10	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L294R	ENST00000371124.3	37	c.881	CCDS14611.1	X	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858304	0.32791	.	.	ENSG00000123165	ENST00000371124	D	0.98060	-4.69	3.58	3.58	0.41010	.	0.000000	0.52532	D	0.000072	D	0.99190	0.9719	H	0.99261	4.49	0.44515	D	0.997463	D	0.89917	1.0	D	0.87578	0.998	D	0.98262	1.0499	10	0.87932	D	0	.	9.6661	0.39986	1.0:0.0:0.0:0.0	.	294	Q8TDG2	ACTT1_HUMAN	R	294	ENSP00000360165:L294R	ENSP00000360165:L294R	L	-	2	0	ACTRT1	127012986	0.987000	0.35691	0.016000	0.15963	0.041000	0.13682	4.141000	0.58038	1.637000	0.50538	0.486000	0.48141	CTT	ACTRT1	-	pfam_Actin-related,smart_Actin-related	ENSG00000123165		0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1	-	0	26	0	A	NM_138289		127185305	-1	tier1	-	no_errors	ENST00000371124	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	C	C	127185305	A	C	127185305	3	2	21	1	0	0	0	0	1	0	0	0	218	72	3	4	253	4	ACTRT1	23	127185305	Missense_Mutation	SNP	A	TCGA-IG-A4P3-01A-11D-A27G-09	24144741	127185305	28085255	454	5841											
OR13H1	347468	genome.wustl.edu	37	chrX	130678783	130678783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggctctcacctgaccGtggtgacaatcttctatggg	7	12	11	11	1	3	2	1	2	3	0	4	2	3	2	2	3	0	1	2	3	2	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:130678783G>A	ENST00000338616.3	+	1	834	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCACCTGACCGTGGTGACAAT	0.478																																																	0													166	149	155					X																	130678783		2203	4300	6503	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.736G>A	X.37:g.130678783G>A	ENSP00000340748:p.Val246Met		B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V246M	ENST00000338616.3	37	c.736	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180491	0.21787	.	.	ENSG00000171054	ENST00000338616	T	0.00277	8.34	4.87	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35870	U	0.002926	T	0.00845	0.0028	H	0.94698	3.57	0.23956	N	0.996357	D	0.89917	1.0	D	0.91635	0.999	T	0.26395	-1.0104	10	0.72032	D	0.01	.	8.5601	0.33505	0.1926:0.0:0.8074:0.0	.	246	Q8NG92	O13H1_HUMAN	M	246	ENSP00000340748:V246M	ENSP00000340748:V246M	V	+	1	0	OR13H1	130506464	0.273000	0.24181	0.373000	0.26003	0.110000	0.19582	1.736000	0.38187	0.485000	0.27652	-0.185000	0.12909	GTG	OR13H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171054		0.478	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	HGNC	protein_coding	OTTHUMT00000058297.1	-	0	27	0	G			130678783	1	tier1	-	no_errors	ENST00000338616	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.428	A	A	130678783	G	A	130678783	3	1	21	1	0	0	0	0	1	0	0	0	10982	1145	40	1	738	1	OR13H1	23	130678783	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	3493478	130678783	24591777	455	5842											
SLC9A6	10479	genome.wustl.edu	37	chrX	135098866	135098866	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctacatggggctgacactGttcaccttccagaaccatgt	9	11	8	13	0	1	2	1	1	0	1	3	2	3	2	4	2	2	2	4	2	2	3			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:135098866G>T	ENST00000370698.3	+	10	1238	c.1203G>T	c.(1201-1203)ctG>ctT	p.L401L	SLC9A6_ENST00000370701.1_Silent_p.L381L|SLC9A6_ENST00000370695.4_Silent_p.L433L	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	401					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGCTGACACTGTTCACCTTCC	0.328																																																	0													130	111	117					X																	135098866		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1203G>T	X.37:g.135098866G>T			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L433	ENST00000370698.3	37	c.1299	CCDS14654.1	X																																																																																			SLC9A6	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000198689		0.328	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	-	0	33	0	G	NM_006359		135098866	1	tier1	-	no_errors	ENST00000370695	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.955	T	T	135098866	G	T	135098866	2	4	21	1	0	0	0	0	0	0	0	1	14763	1364	48	3		3	SLC9A6	23	135098866	Silent	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	4420083	135098866	20171694	456	5843											
FHL1	2273	genome.wustl.edu	37	chrX	135291420	135291420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggaaaaggactgtgtcaaGagtgagccacccagtctcta	13	7	12	9	0	2	2	1	1	1	1	3	4	2	4	2	2	1	0	2	2	4	1			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:135291420G>A	ENST00000345434.3	+	6	788	c.707G>A	c.(706-708)aGa>aAa	p.R236K	FHL1_ENST00000370676.3_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000539015.1_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000394155.2_Missense_Mutation_p.R236K|FHL1_ENST00000535737.1_Intron			Q13642	FHL1_HUMAN	four and a half LIM domains 1	236					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					ACTGTGTCAAGAGTGAGCCAC	0.557											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52	47	48					X																	135291420		1568	3582	5150	SO:0001583	missense	0			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.707G>A	X.37:g.135291420G>A	ENSP00000071281:p.Arg236Lys	1617	B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R236K	ENST00000345434.3	37	c.707	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	g	10.86	1.468610	0.26335	.	.	ENSG00000022267	ENST00000394155;ENST00000345434	T;T	0.63255	-0.03;-0.03	3.85	3.85	0.44370	.	0.336378	0.37761	N	0.001941	T	0.33990	0.0882	N	0.08118	0	0.24455	N	0.99447	B	0.02656	0.0	B	0.04013	0.001	T	0.16837	-1.0389	10	0.02654	T	1	.	10.3036	0.43667	0.0:0.0:1.0:0.0	.	236	Q13642	FHL1_HUMAN	K	236	ENSP00000377710:R236K;ENSP00000071281:R236K	ENSP00000071281:R236K	R	+	2	0	FHL1	135119086	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.800000	0.55537	2.187000	0.69744	0.421000	0.28195	AGA	FHL1	-	NULL	ENSG00000022267		0.557	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	-	0	16	0	G	NM_001449		135291420	1	tier1	-	no_errors	ENST00000345434	ensembl	human	known	74_37	missense	57.14	3	4	SNP	1.000	A	A	135291420	G	A	135291420	3	1	21	1	0	0	0	0	1	0	0	0	5900	942	33	3	842	3	FHL1	23	135291420	Missense_Mutation	SNP	G	TCGA-IG-A4P3-01A-11D-A27G-09	192554	135291420	19979140	457	5844											
GPR112	139378	genome.wustl.edu	37	chrX	135429032	135429032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgtctcaaatctatcctCaactacaatgaccacagcat	15	10	4	12	0	3	2	2	1	2	1	5	2	4	2	2	0	3	1	2	0	5	2			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:135429032C>T	ENST00000394143.1	+	6	3458	c.3167C>T	c.(3166-3168)tCa>tTa	p.S1056L	GPR112_ENST00000412101.1_Missense_Mutation_p.S851L|GPR112_ENST00000287534.4_Missense_Mutation_p.S993L|GPR112_ENST00000394141.1_Missense_Mutation_p.S851L|GPR112_ENST00000370652.1_Missense_Mutation_p.S1056L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1056					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATCTATCCTCAACTACAATG	0.473																																																	0													265	240	248					X																	135429032		2203	4300	6503	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3167C>T	X.37:g.135429032C>T	ENSP00000377699:p.Ser1056Leu		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S1056L	ENST00000394143.1	37	c.3167	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179987	0.38511	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34667	1.39;1.39;1.35;1.48;1.35	2.16	1.28	0.21552	.	.	.	.	.	T	0.39886	0.1095	L	0.27053	0.805	0.09310	N	1	D;P;P	0.61080	0.989;0.884;0.675	D;B;B	0.72625	0.978;0.258;0.067	T	0.14980	-1.0453	9	0.62326	D	0.03	.	4.3239	0.11031	0.0:0.7919:0.0:0.2081	.	993;851;1056	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1056;1056;851;993;851	ENSP00000377699:S1056L;ENSP00000359686:S1056L;ENSP00000416526:S851L;ENSP00000287534:S993L;ENSP00000377697:S851L	ENSP00000287534:S993L	S	+	2	0	GPR112	135256698	0.179000	0.23135	0.002000	0.10522	0.049000	0.14656	0.404000	0.20999	0.357000	0.24183	0.436000	0.28706	TCA	GPR112	-	NULL	ENSG00000156920		0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	25	0	C			135429032	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	63.64	12	21	SNP	0.002	T	T	135429032	C	T	135429032	3	4	21	1	0	0	0	0	1	0	0	0	6655	838	29	3	3177	3	GPR112	23	135429032	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	137612	135429032	19841528	458	5845											
SPANXN3	139067	genome.wustl.edu	37	chrX	142596676	142596676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtcctgtgaagatccttCagataagcctaggtcttcat	10	13	8	10	0	3	3	2	1	1	2	5	3	5	3	3	1	1	0	3	1	3	4			TCGA-IG-A4P3-01A-11D-A27G-09	TCGA-IG-A4P3-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b2011b65-8359-46c8-aeb2-dc9072492e6e	6e8584ca-e2e1-4e55-b776-23a453fc32e0	g.chrX:142596676C>G	ENST00000370503.2	-	2	477	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	132										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATCCTTCAGATAAGCCT	0.448																																																	0													140	114	123					X																	142596676		2203	4300	6503	SO:0001583	missense	0				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.394G>C	X.37:g.142596676C>G	ENSP00000359534:p.Glu132Gln		Q0ZNK4	Missense_Mutation	SNP	pfam_SPANX_prot	p.E132Q	ENST00000370503.2	37	c.394	CCDS35418.1	X	.	.	.	.	.	.	.	.	.	.	c	8.606	0.888082	0.17540	.	.	ENSG00000189252	ENST00000370503	T	0.11604	2.76	0.498	0.498	0.16908	.	.	.	.	.	T	0.17662	0.0424	L	0.43152	1.355	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.13282	-1.0515	8	0.46703	T	0.11	.	.	.	.	.	132	Q5MJ09	SPXN3_HUMAN	Q	132	ENSP00000359534:E132Q	ENSP00000359534:E132Q	E	-	1	0	SPANXN3	142424342	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.162000	0.03141	0.507000	0.28148	0.368000	0.22195	GAA	SPANXN3	-	NULL	ENSG00000189252		0.448	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN3	HGNC	protein_coding	OTTHUMT00000058620.2	-	0	47	0	C	NM_001009609		142596676	-1	tier1	-	no_errors	ENST00000370503	ensembl	human	known	74_37	missense	29.79	33	14	SNP	0.002	G	G	142596676	C	G	142596676	3	3	21	1	0	0	0	0	1	0	0	0	15039	835	29	5	35	5	SPANXN3	23	142596676	Missense_Mutation	SNP	C	TCGA-IG-A4P3-01A-11D-A27G-09	7167644	142596676	12673884	459	5846											
C1orf201	90529	genome.wustl.edu	37	chr1	24687446	24687446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggcctaagtagtccaCgatctcatactgaccaggac	10	7	12	12	2	1	1	1	1	1	0	3	3	2	2	3	3	1	1	3	3	3	3	rs528552913		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:24687446C>T	ENST00000374409.1	-	8	1077	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	STPG1_ENST00000337248.4_Missense_Mutation_p.V275M|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000003583.8_Missense_Mutation_p.V228M|STPG1_ENST00000440416.1_Missense_Mutation_p.V228M|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	275					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAGTAGTCCACGATCTCATAC	0.567													C|||	1	0.000199681	0	0	5008	,	,		18631	0		0.001	False		,,,				2504	0																0													80	79	79					1																	24687446		2203	4300	6503	SO:0001583	missense	0			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.823G>A	1.37:g.24687446C>T	ENSP00000363530:p.Val275Met		Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	NULL	p.V275M	ENST00000374409.1	37	c.823	CCDS55581.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085717	0.76642	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000003	T	0.80287	0.4595	M	0.77103	2.36	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81782	-0.0775	9	0.72032	D	0.01	.	17.4274	0.87530	0.0:1.0:0.0:0.0	.	275;228	Q5TH74;Q5TH74-3	CA201_HUMAN;.	M	275;228;228;275	.	ENSP00000003583:V228M	V	-	1	0	C1orf201	24560033	0.999000	0.42202	0.999000	0.59377	0.728000	0.41692	5.191000	0.65110	2.717000	0.92951	0.563000	0.77884	GTG	STPG1	-	NULL	ENSG00000001460		0.567	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	-	0	39	0	C	NM_178122		24687446	-1	tier1	-	no_errors	ENST00000337248	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.999	T	T	24687446	C	T	24687446	3	4	22	1	0	0	0	0	1	0	0	0	2034	536	19	1	189	1	C1orf201	1	24687446	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09		24687446	224563175	1	5847											
RPS6KA1	6195	genome.wustl.edu	37	chr1	26899743	26899743	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagatgctacacgtggAtccccaccagcgcctcacag	10	6	9	16	2	1	1	1	0	0	1	3	2	3	2	5	1	3	1	5	1	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:26899743A>T	ENST00000374168.2	+	21	2130	c.1976A>T	c.(1975-1977)gAt>gTt	p.D659V	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.D668V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.D648V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.D567V|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.D643V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.D567V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	659	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTACACGTGGATCCCCACCAG	0.632																																																	0													153	141	145					1																	26899743		2203	4300	6503	SO:0001583	missense	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1976A>T	1.37:g.26899743A>T	ENSP00000363283:p.Asp659Val		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D668V	ENST00000374168.2	37	c.2003	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405518	0.83230	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382;ENST00000438977	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	M	0.87971	2.92	0.80722	D	1	P;D	0.67145	0.55;0.996	B;D	0.80764	0.357;0.994	T	0.78735	-0.2088	10	0.87932	D	0	.	15.96	0.79923	1.0:0.0:0.0:0.0	.	668;659	Q15418-2;Q15418	.;KS6A1_HUMAN	V	659;648;567;567;643;668;18	ENSP00000363283:D659V;ENSP00000363281:D648V;ENSP00000431651:D567V;ENSP00000363277:D567V;ENSP00000432281:D643V;ENSP00000435412:D668V;ENSP00000403548:D18V	ENSP00000363277:D567V	D	+	2	0	RPS6KA1	26772330	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.339000	0.96797	2.165000	0.68154	0.460000	0.39030	GAT	RPS6KA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000117676		0.632	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	-	0	29	0	A	NM_002953		26899743	1	tier1	-	no_errors	ENST00000531382	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	T	T	26899743	A	T	26899743	3	4	22	1	0	0	0	0	1	0	0	0	13695	333	12	5	2197	5	RPS6KA1	1	26899743	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	2212297	26899743	222350878	2	5848											
AHDC1	27245	genome.wustl.edu	37	chr1	27878147	27878147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgtactgtaggtcgccGggtggcggtgcaggcgggcg	5	7	20	9	5	0	0	0	0	0	0	1	0	0	0	1	6	3	4	1	6	3	2	rs147707628	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:27878147G>A	ENST00000247087.5	-	5	1076	c.480C>T	c.(478-480)ccC>ccT	p.P160P	AHDC1_ENST00000374011.2_Silent_p.P160P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	160	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTAGGTCGCCGGGTGGCGGTG	0.652													G|||	2	0.000399361	0.0015	0	5008	,	,		13401	0		0	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	98	105	103		480	-0.7	0.3	1	dbSNP_134	103	15,8583	11.2+/-40.8	0,15,4284	no	coding-synonymous	AHDC1	NM_001029882.2		0,16,6486	AA,AG,GG		0.1745,0.0227,0.123		160/1604	27878147	16,12988	2203	4299	6502	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.480C>T	1.37:g.27878147G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.P160	ENST00000247087.5	37	c.480	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3		0	23	0	G			27878147	-1			no_errors	ENST00000247087	ensembl	human	known	74_37	silent	16.67	19	4	SNP	0.224	A	A	27878147	G	A	27878147	2	1	22	1	0	0	0	0	0	0	0	1	412	1103	39	1		1	AHDC1	1	27878147	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	978404	27878147	221372474	3	5849											
CSMD2	114784	genome.wustl.edu	37	chr1	34037135	34037135	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccttcctgggcttacttcGgcaggtgggcgtagagtccc	4	11	13	13	2	0	1	0	0	0	1	4	1	3	1	3	4	1	3	3	4	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:34037135G>A	ENST00000373381.4	-	51	8130	c.7954C>T	c.(7954-7956)Cga>Tga	p.R2652*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2654	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTTACTTCGGCAGGTGGGC	0.572																																																	0													51	45	47					1																	34037135		2203	4300	6503	SO:0001587	stop_gained	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7954C>T	1.37:g.34037135G>A	ENSP00000362479:p.Arg2652*		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2652*	ENST00000373381.4	37	c.7954		1	.	.	.	.	.	.	.	.	.	.	G	50	17.204723	0.99881	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.38	4.47	0.54385	.	0.577030	0.18340	N	0.144210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	7.0923	0.25291	0.0844:0.0:0.6478:0.2678	.	.	.	.	X	2652	.	ENSP00000241312:R2654X	R	-	1	2	CSMD2	33809722	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	3.892000	0.56235	1.267000	0.44247	0.655000	0.94253	CGA	CSMD2	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	56	0	G	NM_052896		34037135	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	nonsense	48.08	27	25	SNP	1.000	A	A	34037135	G	A	34037135	4	1	22	1	0	0	0	0	0	1	0	0	3954	1124	39	1	2575	1	CSMD2	1	34037135	Nonsense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	6158988	34037135	215213486	4	5850											
COL9A2	1298	genome.wustl.edu	37	chr1	40776803	40776803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatcacccagaatcccgcGtttgcccgcatgcccctgaa	9	7	9	16	3	1	2	1	1	0	1	2	3	2	3	5	1	2	2	5	1	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:40776803G>A	ENST00000372748.3	-	12	688	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	198	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGAATCCCGCGTTTGCCCGCA	0.622																																																	0													146	123	131					1																	40776803		2203	4300	6503	SO:0001583	missense	0			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.592C>T	1.37:g.40776803G>A	ENSP00000361834:p.Arg198Cys		B2RMP9	Missense_Mutation	SNP	pfam_Collagen	p.R198C	ENST00000372748.3	37	c.592	CCDS450.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.41|17.41	3.382468|3.382468	0.61845|0.61845	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.94376|.	-3.41|.	5.63|5.63	3.71|3.71	0.42584|0.42584	.|.	0.409517|.	0.26196|.	N|.	0.025765|.	T|T	0.59183|0.59183	0.2175|0.2175	M|M	0.78801|0.78801	2.425|2.425	0.09310|0.09310	N|N	1|1	D|.	0.59357|.	0.985|.	P|.	0.51101|.	0.659|.	T|T	0.51092|0.51092	-0.8749|-0.8749	10|5	0.66056|.	D|.	0.02|.	.|.	11.4791|11.4791	0.50316|0.50316	0.0:0.0:0.6746:0.3254|0.0:0.0:0.6746:0.3254	.|.	198|.	Q14055|.	CO9A2_HUMAN|.	C|M	198|186	ENSP00000361834:R198C|.	ENSP00000361834:R198C|.	R|T	-|-	1|2	0|0	COL9A2|COL9A2	40549390|40549390	0.078000|0.078000	0.21339|0.21339	0.036000|0.036000	0.18154|0.18154	0.150000|0.150000	0.21749|0.21749	1.534000|1.534000	0.36051|0.36051	0.699000|0.699000	0.31761|0.31761	0.558000|0.558000	0.71614|0.71614	CGC|ACG	COL9A2	-	pfam_Collagen	ENSG00000049089		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	-	0	43	0	G	NM_001852		40776803	-1	tier1	-	no_errors	ENST00000372748	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.003	A	A	40776803	G	A	40776803	3	1	22	1	0	0	0	0	1	0	0	0	3715	1145	40	1	1561	1	COL9A2	1	40776803	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	6739668	40776803	208473818	5	5851											
MIER1	57708	genome.wustl.edu	37	chr1	67424600	67424600	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaatgatgatccatcaCaatctgttgcttctcaagat	11	14	5	11	0	3	3	2	2	2	1	6	3	5	3	2	0	1	2	2	0	3	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:67424600C>T	ENST00000355356.3	+	5	558	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	MIER1_ENST00000371018.3_Nonsense_Mutation_p.Q154*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.Q154*|MIER1_ENST00000355977.6_Nonsense_Mutation_p.Q74*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401041.1_Nonsense_Mutation_p.Q190*|MIER1_ENST00000357692.2_Nonsense_Mutation_p.Q154*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.Q190*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.Q137*	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	137	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TGATCCATCACAATCTGTTGC	0.348																																																	0													120	114	116					1																	67424600		1858	4095	5953	SO:0001587	stop_gained	0				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"mesoderm induction early response 1 homolog (Xenopus laevis)"			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.409C>T	1.37:g.67424600C>T	ENSP00000347514:p.Gln137*		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Nonsense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.Q190*	ENST00000355356.3	37	c.568	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.277351	0.98182	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	.	.	.	5.6	5.6	0.85130	.	0.238121	0.41294	D	0.000903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-70.7807	20.0045	0.97432	0.0:1.0:0.0:0.0	.	.	.	.	X	158;154;74;154;190;154;190;137;137	.	ENSP00000347514:Q137X	Q	+	1	0	MIER1	67197188	0.995000	0.38212	0.980000	0.43619	0.997000	0.91878	6.235000	0.72332	2.805000	0.96524	0.655000	0.94253	CAA	MIER1	-	NULL	ENSG00000198160		0.348	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	-	0	44	0	C	NM_020948		67424600	1	tier1	-	no_errors	ENST00000401041	ensembl	human	known	74_37	nonsense	29.63	38	16	SNP	0.997	T	T	67424600	C	T	67424600	4	4	22	1	0	0	0	0	0	1	0	0	9618	479	17	3	667	3	MIER1	1	67424600	Nonsense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	26647797	67424600	181826021	6	5852											
FAM102B	284611	genome.wustl.edu	37	chr1	109148850	109148850	+	Frame_Shift_Del	DEL	A	A	-																															ttctgtctttggcaggaattAaaaggtggaaaagcttatgc																								rs557160620		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:109148850delA	ENST00000370035.3	+	3	604	c.264delA	c.(262-264)ttafs	p.L88fs	FAM102B_ENST00000405454.1_Frame_Shift_Del_p.L88fs	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	88										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GGCAGGAATTAAAAGGTGGAA	0.269																																																	0													89	91	90					1																	109148850		2203	4297	6500	SO:0001589	frameshift_variant	0			CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.264delA	1.37:g.109148850delA	ENSP00000359052:p.Leu88fs		A1L1A1|B0QZ46|B0QZ47|Q68DH7	Frame_Shift_Del	DEL	pfam_NT-C2	p.G90fs	ENST00000370035.3	37	c.264	CCDS30786.2	1																																																																																			FAM102B	-	pfam_NT-C2	ENSG00000162636		0.269	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102B	HGNC	protein_coding	OTTHUMT00000030188.3		0	84	0	A	NM_001010883		109148850	1	tier1		no_errors	ENST00000370035	ensembl	human	known	74_37	frame_shift_del	26.73	74	27	DEL	1.000	-	-	109148850	A	-	109148850	7	5	22	1	0	1	0	1	0	0	0	0	5402	359	13	0	274	0	FAM102B	1	109148850	Frame_Shift_Del	DEL	A	TCGA-IG-A4QS-01A-11D-A27G-09	41724250	109148850	140101771	7	5853											
SARS	6301	genome.wustl.edu	37	chr1	109766611	109766611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattcctaggtagatttcggGcagacaacttgaacaagctg	12	11	10	8	1	0	3	0	1	0	2	2	3	1	3	1	2	3	3	1	2	6	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:109766611G>T	ENST00000234677.2	+	2	223	c.148G>T	c.(148-150)Gca>Tca	p.A50S	SARS_ENST00000369923.4_Missense_Mutation_p.A50S	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	50					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TAGATTTCGGGCAGACAACTT	0.388																																																	0													176	183	180					1																	109766611		2203	4300	6503	SO:0001583	missense	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	10537	protein-coding gene	gene with protein product	"serine tRNA ligase 1, cytoplasmic"	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.148G>T	1.37:g.109766611G>T	ENSP00000234677:p.Ala50Ser		B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.A50S	ENST00000234677.2	37	c.148	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214640	0.58452	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.42513	0.97;0.97	5.93	5.02	0.67125	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (2);	0.049942	0.85682	D	0.000000	T	0.31638	0.0803	M	0.73430	2.235	0.80722	D	1	B;B;B;B	0.22146	0.005;0.005;0.065;0.005	B;B;B;B	0.28709	0.023;0.039;0.093;0.023	T	0.19647	-1.0299	10	0.31617	T	0.26	-6.7405	14.8003	0.69909	0.0694:0.0:0.9306:0.0	.	50;50;50;50	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	S	50	ENSP00000234677:A50S;ENSP00000358939:A50S	ENSP00000234677:A50S	A	+	1	0	SARS	109568134	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	6.336000	0.72954	1.529000	0.49120	0.655000	0.94253	GCA	SARS	-	pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	ENSG00000031698		0.388	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	-	0	46	0	G	NM_006513		109766611	1	tier1	-	no_errors	ENST00000369923	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	109766611	G	T	109766611	3	4	22	1	0	0	0	0	1	0	0	0	13889	1203	42	3	154	3	SARS	1	109766611	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	617761	109766611	139484010	8	5854											
IVL	3713	genome.wustl.edu	37	chr1	152882791	152882791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagcaggagggacagcTgaagcacccggagcagcagg	13	1	17	10	1	0	2	0	1	0	1	0	5	0	5	1	4	6	6	1	4	1	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:152882791T>C	ENST00000368764.3	+	2	582	c.518T>C	c.(517-519)cTg>cCg	p.L173P	IVL_ENST00000392667.2_Missense_Mutation_p.L27P			P07476	INVO_HUMAN	involucrin	173	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gagggacagctgaagcacccg	0.627																																																	0													24	26	25					1																	152882791		2203	4299	6502	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.518T>C	1.37:g.152882791T>C	ENSP00000357753:p.Leu173Pro		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.L173P	ENST00000368764.3	37	c.518	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331340	0.24167	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.12672	2.92;2.66	3.38	-5.2	0.02823	.	.	.	.	.	T	0.02929	0.0087	L	0.46157	1.445	0.09310	N	1	B	0.29909	0.261	B	0.30316	0.114	T	0.42932	-0.9422	9	0.30078	T	0.28	.	3.9727	0.09460	0.4921:0.3123:0.0:0.1956	.	173	P07476	INVO_HUMAN	P	173;27	ENSP00000357753:L173P;ENSP00000376435:L27P	ENSP00000357753:L173P	L	+	2	0	IVL	151149415	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.461000	0.06712	-0.478000	0.06823	-0.483000	0.04790	CTG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.627	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	50	0	T	NM_005547		152882791	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	20.83	76	20	SNP	0.000	C	C	152882791	T	C	152882791	3	2	22	1	0	0	0	0	1	0	0	0	7956	1580	55	4	520	4	IVL	1	152882791	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	43116180	152882791	96367830	9	5855											
PMF1	11243	genome.wustl.edu	37	chr1	156203459	156203459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggaggggaacctagaagCtgtcttgaatgccttggata	12	9	14	6	0	1	3	0	1	1	2	1	6	1	6	2	4	3	1	2	4	5	4	rs11548876		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:156203459C>A	ENST00000368273.4	+	3	324	c.314C>A	c.(313-315)gCt>gAt	p.A105D	PMF1_ENST00000368277.3_Missense_Mutation_p.A103D|PMF1_ENST00000368279.3_Missense_Mutation_p.A103D|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.A103D|PMF1_ENST00000567140.1_Missense_Mutation_p.A103D|PMF1_ENST00000565805.1_Missense_Mutation_p.A103D|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A103D|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.A103D	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					AACCTAGAAGCTGTCTTGAAT	0.483																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)												0													145	152	150					1																	156203459		2203	4300	6503	SO:0001583	missense	0			AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.314C>A	1.37:g.156203459C>A	ENSP00000357256:p.Ala105Asp			Missense_Mutation	SNP	pfam_Nnf1	p.A103D	ENST00000368273.4	37	c.308	CCDS55648.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080173	0.76528	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.22	4.3	0.51218	.	0.402171	0.25723	N	0.028740	T	0.27205	0.0667	L	0.49126	1.545	0.33211	D	0.553368	D;D;D	0.58268	0.96;0.959;0.982	P;P;P	0.55055	0.648;0.696;0.767	T	0.12041	-1.0563	10	0.54805	T	0.06	-5.5341	11.1788	0.48616	0.1841:0.8159:0.0:0.0	.	103;103;103	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	D	103;105;103;103;103	ENSP00000357262:A103D;ENSP00000357256:A105D;ENSP00000357260:A103D;ENSP00000357259:A103D;ENSP00000324909:A103D	ENSP00000324909:A103D	A	+	2	0	PMF1	154470083	0.696000	0.27757	0.859000	0.33776	0.938000	0.57974	1.056000	0.30480	1.206000	0.43276	0.491000	0.48974	GCT	PMF1-BGLAP	-	pfam_Nnf1	ENSG00000260238		0.483	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	PMF1-BGLAP	HGNC	protein_coding	OTTHUMT00000040864.2	-	0	19	0	C	NM_007221		156203459	1	tier1	-	no_errors	ENST00000368276	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.927	A	A	156203459	C	A	156203459	3	1	22	1	0	0	0	0	1	0	0	0	12172	797	28	3	318	3	PMF1	1	156203459	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	3320668	156203459	93047162	10	5856											
OR6K2	81448	genome.wustl.edu	37	chr1	158670013	158670013	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacacagcaacttaaagTcagttgggtacatagcttgg	15	9	9	8	0	1	0	1	0	0	0	1	0	1	0	0	2	5	4	0	2	6	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:158670013T>G	ENST00000359610.2	-	1	473	c.430A>C	c.(430-432)Act>Cct	p.T144P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAACTTAAAGTCAGTTGGGTA	0.463																																																	0													120	106	111					1																	158670013		2203	4300	6503	SO:0001583	missense	0			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.430A>C	1.37:g.158670013T>G	ENSP00000352626:p.Thr144Pro		B9EH33|Q6IFR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T144P	ENST00000359610.2	37	c.430	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.373310	0.42105	.	.	ENSG00000196171	ENST00000359610	T	0.37584	1.19	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001386	T	0.41949	0.1181	M	0.79258	2.445	0.29031	N	0.885672	D	0.57257	0.979	D	0.67725	0.953	T	0.49523	-0.8931	10	0.87932	D	0	-13.987	5.012	0.14317	0.0:0.0923:0.1871:0.7205	.	144	Q8NGY2	OR6K2_HUMAN	P	144	ENSP00000352626:T144P	ENSP00000352626:T144P	T	-	1	0	OR6K2	156936637	0.013000	0.17824	0.827000	0.32855	0.679000	0.39708	0.886000	0.28241	2.019000	0.59389	0.528000	0.53228	ACT	OR6K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196171		0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1	-	0	9	0	T	NM_001005279		158670013	-1	tier1	-	no_errors	ENST00000359610	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.908	G	G	158670013	T	G	158670013	3	3	22	1	0	0	0	0	1	0	0	0	11241	1667	58	4	548	4	OR6K2	1	158670013	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	2466554	158670013	90580608	11	5857											
ATP1A2	477	genome.wustl.edu	37	chr1	160099104	160099104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctctgctcaagtgcattGagctctcctgtggctcagtg	6	12	11	12	0	4	1	2	1	2	0	5	1	4	1	1	1	4	5	1	1	1	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:160099104G>C	ENST00000361216.3	+	11	1464	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E459Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	459					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAAGTGCATTGAGCTCTCCTG	0.527																																																	0													168	163	164					1																	160099104		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1375G>C	1.37:g.160099104G>C	ENSP00000354490:p.Glu459Gln		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.E459Q	ENST00000361216.3	37	c.1375	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.483460|4.483460	0.84854|0.84854	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.96104|.	-3.91;-3.91|.	4.66|4.66	4.66|4.66	0.58398|0.58398	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61489|0.61489	0.2351|0.2351	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	B;P;P|.	0.42908|.	0.088;0.754;0.793|.	B;P;P|.	0.53062|.	0.345;0.594;0.717|.	T|T	0.60627|0.60627	-0.7226|-0.7226	10|5	0.66056|.	D|.	0.02|.	.|.	16.6703|16.6703	0.85264|0.85264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	459;359;459|.	B1AKY9;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	Q|F	459;459;162|169	ENSP00000354490:E459Q;ENSP00000376066:E459Q|.	ENSP00000354490:E459Q|.	E|L	+|+	1|3	0|2	ATP1A2|ATP1A2	158365728|158365728	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.976000|0.976000	0.68499|0.68499	3.693000|3.693000	0.54735|0.54735	2.306000|2.306000	0.77630|0.77630	0.561000|0.561000	0.74099|0.74099	GAG|TTG	ATP1A2	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2		0	22	0	G	NM_000702		160099104	1			no_errors	ENST00000361216	ensembl	human	known	74_37	missense	5.00	56	3	SNP	1.000	C	C	160099104	G	C	160099104	3	2	22	1	0	0	0	0	1	0	0	0	1130	1291	45	5	1417	5	ATP1A2	1	160099104	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1429091	160099104	89151517	12	5858											
RXRG	6258	genome.wustl.edu	37	chr1	165386426	165386426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgaagaaccctttgcaGccttcacaactgtatacccc	10	11	5	15	0	2	2	1	1	1	1	2	2	2	2	4	0	5	2	4	0	5	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:165386426G>A	ENST00000359842.5	-	4	776	c.474C>T	c.(472-474)ggC>ggT	p.G158G	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	158					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	ACCCTTTGCAGCCTTCACAAC	0.443																																																	0													170	155	160					1																	165386426		2203	4300	6503	SO:0001819	synonymous_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.474C>T	1.37:g.165386426G>A			A6NIP1|Q6IBU7	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.G158	ENST00000359842.5	37	c.474	CCDS1248.1	1																																																																																			RXRG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000143171		0.443	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	-	0	86	0	G	NM_006917		165386426	-1	tier1	-	no_errors	ENST00000359842	ensembl	human	known	74_37	silent	29.41	108	45	SNP	0.992	A	A	165386426	G	A	165386426	2	1	22	1	0	0	0	0	0	0	0	1	13810	958	34	3		3	RXRG	1	165386426	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	5287322	165386426	83864195	13	5859											
NPHS2	7827	genome.wustl.edu	37	chr1	179526362	179526362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaacatgtctttggtcaCgatctaggcagaaaaaagtt	15	12	8	6	1	3	1	1	0	2	1	3	2	3	1	0	2	1	2	0	2	7	5	rs74315347		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:179526362C>T	ENST00000367615.4	-	5	606	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	180			V -> M (in NPHS2). {ECO:0000269|PubMed:10742096}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTTTGGTCACGATCTAGGCA	0.413																																																	0			GRCh37	CM000584	NPHS2	M	rs74315347	C	MET/VAL	0,4406		0,0,2203	99	91	93	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	538	5.5	1	1	dbSNP_131	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPHS2	NM_014625.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	180/384	179526362	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.538G>A	1.37:g.179526362C>T	ENSP00000356587:p.Val180Met		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.V180M	ENST00000367615.4	37	c.538	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463181	0.84425	0.0	1.16E-4	ENSG00000116218	ENST00000367615	D	0.99598	-6.26	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	L	0.33339	1.005	0.80722	A	1	P	0.46512	0.879	P	0.48425	0.577	D	0.99879	1.1110	9	0.66056	D	0.02	-21.3588	18.2787	0.90092	0.0:1.0:0.0:0.0	.	180	Q9NP85	PODO_HUMAN	M	180	ENSP00000356587:V180M	ENSP00000356587:V180M	V	-	1	0	NPHS2	177792985	0.994000	0.37717	1.000000	0.80357	0.962000	0.63368	1.789000	0.38724	2.749000	0.94314	0.655000	0.94253	GTG	NPHS2	-	pfam_Band_7,smart_Band_7,prints_Stomatin	ENSG00000116218		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	HGNC	protein_coding	OTTHUMT00000085283.1	-	0	38	0	C			179526362	-1	tier1	rs74315347	no_errors	ENST00000367615	ensembl	human	known	74_37	missense	36.73	31	18	SNP	1.000	T	T	179526362	C	T	179526362	3	4	22	1	0	0	0	0	1	0	0	0	10622	536	19	1	629	1	NPHS2	1	179526362	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	14139936	179526362	69724259	14	5860											
CEP350	9857	genome.wustl.edu	37	chr1	179966116	179966116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagattagatattctaaagcGgcgacaacatgatgtcaaac	17	9	8	7	2	2	3	1	1	1	2	2	4	2	3	0	1	3	0	0	1	7	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:179966116G>A	ENST00000367607.3	+	6	1242	c.824G>A	c.(823-825)cGg>cAg	p.R275Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	275					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATTCTAAAGCGGCGACAACAT	0.428																																																	0													103	108	106					1																	179966116		2203	4300	6503	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.824G>A	1.37:g.179966116G>A	ENSP00000356579:p.Arg275Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.R275Q	ENST00000367607.3	37	c.824	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.853467	0.51270	.	.	ENSG00000135837	ENST00000367607	T	0.19806	2.12	5.25	4.31	0.51392	.	0.201167	0.25146	N	0.032788	T	0.13157	0.0319	N	0.24115	0.695	0.32455	N	0.54485	B;B	0.20261	0.016;0.043	B;B	0.12156	0.003;0.007	T	0.14839	-1.0458	9	.	.	.	.	10.1443	0.42753	0.1705:0.0:0.8295:0.0	.	275;275	E7EU22;Q5VT06	.;CE350_HUMAN	Q	275	ENSP00000356579:R275Q	.	R	+	2	0	CEP350	178232739	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.711000	0.47177	1.147000	0.42369	0.446000	0.29264	CGG	CEP350	-	NULL	ENSG00000135837		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0	21	0	G	NM_014810		179966116	1	tier1	rs146475303	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	A	A	179966116	G	A	179966116	3	1	22	1	0	0	0	0	1	0	0	0	3261	1116	39	1	842	1	CEP350	1	179966116	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	439754	179966116	69284505	15	5861											
ZNF648	127665	genome.wustl.edu	37	chr1	182026619	182026619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgtctacacttttgtgcGcacagagatactttccattg	9	14	8	10	2	1	1	0	0	1	1	2	2	2	1	1	0	3	1	1	0	2	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:182026619G>A	ENST00000339948.3	-	2	734	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ACTTTTGTGCGCACAGAGATA	0.567																																					NSCLC(71;908 1374 5429 20458 35642)												0													67	70	69					1																	182026619		2203	4300	6503	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.527C>T	1.37:g.182026619G>A	ENSP00000344129:p.Ala176Val		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A176V	ENST00000339948.3	37	c.527	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902208	0.17760	.	.	ENSG00000179930	ENST00000339948	T	0.07444	3.19	2.71	-0.448	0.12230	.	.	.	.	.	T	0.04770	0.0129	L	0.27053	0.805	0.09310	N	1	B	0.21147	0.052	B	0.10450	0.005	T	0.44757	-0.9307	9	0.22109	T	0.4	.	3.5459	0.07828	0.2642:0.0:0.5393:0.1964	.	176	Q5T619	ZN648_HUMAN	V	176	ENSP00000344129:A176V	ENSP00000344129:A176V	A	-	2	0	ZNF648	180293242	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.960000	0.03849	-0.086000	0.12550	-0.182000	0.12963	GCG	ZNF648	-	NULL	ENSG00000179930		0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	-	0	30	0	G	XM_060597		182026619	-1	tier1	-	no_errors	ENST00000339948	ensembl	human	novel	74_37	missense	37.25	32	19	SNP	0.000	A	A	182026619	G	A	182026619	3	1	22	1	0	0	0	0	1	0	0	0	18111	1087	38	1	1183	1	ZNF648	1	182026619	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	2060503	182026619	67224002	16	5862											
FAM5C	339479	genome.wustl.edu	37	chr1	190250831	190250831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagaggagagccaaggaAatttcttctctcaactgcaa	14	8	10	9	0	3	2	1	0	2	2	4	4	3	3	1	3	3	2	1	3	4	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:190250831A>G	ENST00000367462.3	-	3	517	c.286T>C	c.(286-288)Ttc>Ctc	p.F96L	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	96	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GAGCCAAGGAAATTTCTTCTC	0.398																																																	0													81	78	79					1																	190250831		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.286T>C	1.37:g.190250831A>G	ENSP00000356432:p.Phe96Leu		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F96L	ENST00000367462.3	37	c.286	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332190	0.60853	.	.	ENSG00000162670	ENST00000367462	D	0.83755	-1.76	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	N	0.24115	0.695	0.80722	D	1	P	0.37061	0.58	B	0.39562	0.303	T	0.70310	-0.4907	10	0.08837	T	0.75	.	14.2271	0.65868	1.0:0.0:0.0:0.0	.	96	Q76B58	FAM5C_HUMAN	L	96	ENSP00000356432:F96L	ENSP00000356432:F96L	F	-	1	0	FAM5C	188517454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.944000	0.70219	2.248000	0.74166	0.477000	0.44152	TTC	BRINP3	-	pfam_MACPF,smart_MACPF	ENSG00000162670		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0	21	0	A	NM_199051		190250831	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G	G	190250831	A	G	190250831	3	3	22	1	0	0	0	0	1	0	0	0	5616	14	1	4	2038	4	FAM5C	1	190250831	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	8224212	190250831	58999790	17	5863											
PTPRC	5788	genome.wustl.edu	37	chr1	198725126	198725126	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccatcaagaagataaaaTtgaatttgataatgaagtgg	19	10	8	4	0	1	5	1	3	0	2	1	5	1	5	1	1	1	0	1	1	8	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:198725126T>G	ENST00000367376.2	+	33	3902	c.3731T>G	c.(3730-3732)aTt>aGt	p.I1244S	PTPRC_ENST00000348564.6_Missense_Mutation_p.I1085S|PTPRC_ENST00000594404.1_Missense_Mutation_p.I1083S|PTPRC_ENST00000352140.3_Missense_Mutation_p.I1196S|PTPRC_ENST00000442510.2_Missense_Mutation_p.I1246S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1244					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGATAAAATTGAATTTGAT	0.398																																																	0													95	98	97					1																	198725126		2203	4300	6503	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3731T>G	1.37:g.198725126T>G	ENSP00000356346:p.Ile1244Ser		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I1246S	ENST00000367376.2	37	c.3737		1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159840	0.38119	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.02812	4.15	5.7	5.7	0.88788	.	0.141474	0.32258	N	0.006341	T	0.05547	0.0146	L	0.58101	1.795	0.29677	N	0.841985	P;P;P	0.36647	0.563;0.563;0.563	B;B;B	0.35931	0.214;0.214;0.214	T	0.02307	-1.1179	10	0.87932	D	0	.	15.9668	0.79979	0.0:0.0:0.0:1.0	.	1085;1196;1244	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	S	1246;1196;1244;1083	ENSP00000193532:I1196S	ENSP00000306782:I1083S	I	+	2	0	PTPRC	196991749	1.000000	0.71417	0.016000	0.15963	0.548000	0.35241	4.755000	0.62198	2.173000	0.68751	0.455000	0.32223	ATT	PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.398	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0	14	0	T			198725126	1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.545	G	G	198725126	T	G	198725126	3	3	22	1	0	0	0	0	1	0	0	0	12842	1493	52	4	3868	4	PTPRC	1	198725126	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	8474295	198725126	50525495	18	5864											
PTPN14	5784	genome.wustl.edu	37	chr1	214557671	214557671	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcagatggactgacaagTttgttgctgtagaccccctg	8	12	12	9	0	1	3	1	1	0	2	1	4	1	4	2	2	1	4	2	2	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:214557671T>G	ENST00000366956.5	-	13	1721	c.1527A>C	c.(1525-1527)aaA>aaC	p.K509N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	509					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GACTGACAAGTTTGTTGCTGT	0.582																																					Colon(92;557 1424 24372 34121 40073)												0													135	141	139					1																	214557671		2203	4300	6503	SO:0001583	missense	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1527A>C	1.37:g.214557671T>G	ENSP00000355923:p.Lys509Asn		Q5VSI0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.K509N	ENST00000366956.5	37	c.1527	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183033	0.01620	.	.	ENSG00000152104	ENST00000366956	T	0.66815	-0.23	5.49	-0.619	0.11572	.	1.086930	0.06902	N	0.806162	T	0.40932	0.1137	N	0.08118	0	0.19945	N	0.999941	B	0.23735	0.09	B	0.21360	0.034	T	0.20472	-1.0274	10	0.10902	T	0.67	.	7.5386	0.27725	0.0:0.4602:0.1357:0.4042	.	509	Q15678	PTN14_HUMAN	N	509	ENSP00000355923:K509N	ENSP00000355923:K509N	K	-	3	2	PTPN14	212624294	0.050000	0.20438	0.002000	0.10522	0.015000	0.08874	-0.740000	0.04861	-0.126000	0.11682	0.528000	0.53228	AAA	PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.582	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0	61	0	T	NM_005401		214557671	-1	tier1	-	no_errors	ENST00000366956	ensembl	human	known	74_37	missense	49.18	31	30	SNP	0.000	G	G	214557671	T	G	214557671	3	3	22	1	0	0	0	0	1	0	0	0	12826	1722	60	4	2064	4	PTPN14	1	214557671	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	15832545	214557671	34692950	19	5865											
MARK1	4139	genome.wustl.edu	37	chr1	220825478	220825478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accattaaagacggctctgaAgcttaccggcctgggtaatg	11	9	11	10	2	1	2	0	1	1	1	1	2	1	2	3	3	2	3	3	3	5	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:220825478A>G	ENST00000366917.4	+	15	1988	c.1722A>G	c.(1720-1722)gaA>gaG	p.E574E	MARK1_ENST00000402574.1_Silent_p.E439E|MARK1_ENST00000366918.4_Silent_p.E552E					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACGGCTCTGAAGCTTACCGGC	0.453																																																	0													130	121	124					1																	220825478		2203	4300	6503	SO:0001819	synonymous_variant	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1722A>G	1.37:g.220825478A>G				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.E574	ENST00000366917.4	37	c.1722	CCDS31029.2	1																																																																																			MARK1	-	NULL	ENSG00000116141		0.453	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	48	0	A			220825478	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	silent	41.51	31	22	SNP	1.000	G	G	220825478	A	G	220825478	2	3	22	1	0	0	0	0	0	0	0	1	9350	69	3	4		4	MARK1	1	220825478	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	6267807	220825478	28425143	20	5866											
MARK1	4139	genome.wustl.edu	37	chr1	220835336	220835336	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaaaaagagagattttTgcttttctgtgtccatggag	11	14	11	5	0	1	3	0	1	1	2	2	5	2	4	1	1	2	2	1	1	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:220835336T>G	ENST00000366917.4	+	18	2482	c.2216T>G	c.(2215-2217)tTg>tGg	p.L739W	MARK1_ENST00000402574.1_Missense_Mutation_p.L589W|MARK1_ENST00000366918.4_Missense_Mutation_p.L702W|RP11-322F10.2_ENST00000446040.1_RNA					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAGAGATTTTTGCTTTTCTGT	0.438																																																	0													132	130	131					1																	220835336		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2216T>G	1.37:g.220835336T>G	ENSP00000355884:p.Leu739Trp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.L739W	ENST00000366917.4	37	c.2216	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037743	0.75617	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.61158	0.13;0.13;0.13	6.16	6.16	0.99307	Kinase-associated KA1 (2);	0.000000	0.64402	D	0.000002	T	0.78874	0.4352	M	0.83483	2.645	0.58432	D	0.999997	D;D;D;P	0.89917	0.999;1.0;1.0;0.955	D;D;D;P	0.91635	0.996;0.999;0.997;0.688	T	0.81765	-0.0783	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	724;589;739;702	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	W	589;702;739	ENSP00000386017:L589W;ENSP00000355885:L702W;ENSP00000355884:L739W	ENSP00000355884:L739W	L	+	2	0	MARK1	218901959	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TTG	MARK1	-	superfamily_KA1/Ssp2_C	ENSG00000116141		0.438	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	42	0	T			220835336	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	26.53	36	13	SNP	1.000	G	G	220835336	T	G	220835336	3	3	22	1	0	0	0	0	1	0	0	0	9350	1821	63	4	2286	4	MARK1	1	220835336	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	9858	220835336	28415285	21	5867											
RYR2	6262	genome.wustl.edu	37	chr1	237948142	237948142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggaaagtgaccttctttCggacatctttggcctggatc	9	12	11	9	1	2	2	0	1	2	1	4	5	2	5	2	4	0	0	2	4	1	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:237948142C>T	ENST00000366574.2	+	90	13447	c.13130C>T	c.(13129-13131)tCg>tTg	p.S4377L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.S4361L|RYR2_ENST00000360064.6_Missense_Mutation_p.S4383L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4377					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACCTTCTTTCGGACATCTTT	0.537																																																	0													47	45	46					1																	237948142		1936	4137	6073	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13130C>T	1.37:g.237948142C>T	ENSP00000355533:p.Ser4377Leu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S4383L	ENST00000366574.2	37	c.13148	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163653	0.38217	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93659	-3.26;-3.26;-3.26	5.56	5.56	0.83823	Ryanodine Receptor TM 4-6 (1);	0.218534	0.30043	N	0.010554	D	0.92766	0.7700	L	0.27053	0.805	0.80722	D	1	D;P	0.64830	0.994;0.898	P;B	0.57679	0.825;0.207	D	0.90205	0.4260	10	0.16896	T	0.51	-8.2172	19.5263	0.95208	0.0:1.0:0.0:0.0	.	1351;4377	B4DGV4;Q92736	.;RYR2_HUMAN	L	4377;4383;4361;1351	ENSP00000355533:S4377L;ENSP00000353174:S4383L;ENSP00000443798:S4361L	ENSP00000353174:S4383L	S	+	2	0	RYR2	236014765	1.000000	0.71417	0.322000	0.25334	0.126000	0.20510	7.625000	0.83145	2.613000	0.88420	0.655000	0.94253	TCG	RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	21	0	C	NM_001035		237948142	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.984	T	T	237948142	C	T	237948142	3	4	22	1	0	0	0	0	1	0	0	0	13814	893	31	1	13488	1	RYR2	1	237948142	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	17112806	237948142	11302479	22	5868											
OR6F1	343169	genome.wustl.edu	37	chr1	247876024	247876024	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagcccagtaagagaaAgtcctggggcagagttttgt	13	8	14	6	0	0	2	0	0	0	2	1	4	1	3	2	3	1	3	2	3	3	3	rs534088745	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:247876024A>C	ENST00000302084.2	-	1	81	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGTAAGAGAAAGTCCTGGGGC	0.463																																																	0													93	95	94					1																	247876024		2203	4300	6503	SO:0001583	missense	0			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.34T>G	1.37:g.247876024A>C	ENSP00000305640:p.Phe12Val		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F12V	ENST00000302084.2	37	c.34	CCDS31095.1	1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554197	0.45487	.	.	ENSG00000169214	ENST00000302084	T	0.04551	3.6	3.8	2.66	0.31614	.	0.000000	0.42821	D	0.000652	T	0.22360	0.0539	M	0.91300	3.195	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.05338	-1.0891	10	0.87932	D	0	-25.9593	6.6974	0.23207	0.8868:0.0:0.1132:0.0	.	12	Q8NGZ6	OR6F1_HUMAN	V	12	ENSP00000305640:F12V	ENSP00000305640:F12V	F	-	1	0	OR6F1	245942647	0.823000	0.29233	0.007000	0.13788	0.003000	0.03518	2.789000	0.47813	0.628000	0.30357	0.482000	0.46254	TTT	OR6F1	-	NULL	ENSG00000169214		0.463	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	-	0	35	0	A	NM_001005286		247876024	-1	tier1	-	no_errors	ENST00000302084	ensembl	human	known	74_37	missense	83.33	5	25	SNP	0.031	C	C	247876024	A	C	247876024	3	2	22	1	0	0	0	0	1	0	0	0	11240	72	3	4	896	4	OR6F1	1	247876024	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	9927882	247876024	1374597	23	5869											
OR2W3	343171	genome.wustl.edu	37	chr1	248059417	248059417	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaccacgaggtggaccacTtcctgcgtgagatgcccgcc	7	6	13	15	3	0	1	0	1	0	1	1	4	1	2	5	3	2	1	5	3	0	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248059417T>G	ENST00000360358.3	+	1	529	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	OR2W3_ENST00000537741.1_Missense_Mutation_p.F177V	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGGACCACTTCCTGCGTGA	0.647																																																	0													118	95	103					1																	248059417		2203	4300	6503	SO:0001583	missense	0			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"GPCR / Class A : Olfactory receptors"	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.529T>G	1.37:g.248059417T>G	ENSP00000353516:p.Phe177Val		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177V	ENST00000360358.3	37	c.529	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773654	0.69992	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00350	7.98;7.98	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.193001	0.37178	N	0.002214	T	0.01092	0.0036	M	0.93106	3.38	0.34354	D	0.690224	D	0.67145	0.996	D	0.65233	0.933	T	0.41215	-0.9521	10	0.87932	D	0	.	15.0464	0.71830	0.0:0.0:0.0:1.0	.	177	Q7Z3T1	OR2W3_HUMAN	V	177	ENSP00000445853:F177V;ENSP00000353516:F177V	ENSP00000353516:F177V	F	+	1	0	OR2W3	246126040	0.007000	0.16637	1.000000	0.80357	0.970000	0.65996	1.475000	0.35409	2.224000	0.72417	0.491000	0.48974	TTC	OR2W3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000238243		0.647	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	-	0	66	0	T	NM_001001957		248059417	1	tier1	-	no_errors	ENST00000360358	ensembl	human	known	74_37	missense	31.25	44	20	SNP	0.999	G	G	248059417	T	G	248059417	3	3	22	1	0	0	0	0	1	0	0	0	11072	1609	56	4	531	4	OR2W3	1	248059417	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	183393	248059417	1191204	24	5870											
OR2M3	127062	genome.wustl.edu	37	chr1	248366816	248366816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttatgactgccttttcctgGatcctgggctctacggatgg	5	14	11	11	1	1	1	0	1	1	0	3	3	3	3	3	4	2	1	3	4	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248366816G>T	ENST00000456743.1	+	1	485	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTTTCCTGGATCCTGGGCT	0.463																																																	0													201	197	198					1																	248366816		2203	4300	6503	SO:0001583	missense	0				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.447G>T	1.37:g.248366816G>T	ENSP00000389625:p.Trp149Cys		B9EH06|Q6IEY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W149C	ENST00000456743.1	37	c.447	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612883	0.28712	.	.	ENSG00000228198	ENST00000456743	T	0.59638	0.25	2.55	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30538	U	0.009420	T	0.72898	0.3518	M	0.81497	2.545	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.61608	-0.7028	10	0.87932	D	0	.	10.4841	0.44711	0.0:0.0:0.8062:0.1938	.	149	Q8NG83	OR2M3_HUMAN	C	149	ENSP00000389625:W149C	ENSP00000389625:W149C	W	+	3	0	OR2M3	246433439	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	-1.256000	0.02869	1.425000	0.47237	0.405000	0.27470	TGG	OR2M3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000228198		0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	HGNC	protein_coding	OTTHUMT00000097355.1	-	0	91	0	G	NM_001004689		248366816	1	tier1	-	no_errors	ENST00000456743	ensembl	human	known	74_37	missense	28.21	84	33	SNP	0.092	T	T	248366816	G	T	248366816	3	4	22	1	0	0	0	0	1	0	0	0	11050	1183	41	3	449	3	OR2M3	1	248366816	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	307399	248366816	883805	25	5871											
OR2T10	127069	genome.wustl.edu	37	chr1	248756469	248756469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcatgatgacacagcacaAgtacatgaaaatcttgtaaa	18	8	8	7	0	1	3	0	3	1	0	1	4	1	3	0	0	3	4	0	0	6	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248756469A>G	ENST00000330500.2	-	1	631	c.601T>C	c.(601-603)Ttg>Ctg	p.L201L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACAGCACAAGTACATGAAA	0.448																																																	0													80	84	83					1																	248756469		2050	4240	6290	SO:0001819	synonymous_variant	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.601T>C	1.37:g.248756469A>G			B2RNK7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L201	ENST00000330500.2	37	c.601	CCDS31121.1	1																																																																																			OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184022		0.448	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	-	0	68	0	A	NM_001004693		248756469	-1	tier1	-	no_errors	ENST00000330500	ensembl	human	known	74_37	silent	36.90	53	31	SNP	0.000	G	G	248756469	A	G	248756469	2	3	22	1	0	0	0	0	0	0	0	1	11056	69	3	4		4	OR2T10	1	248756469	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	389653	248756469	494152	26	5872											
OR2T10	127069	genome.wustl.edu	37	chr1	248756934	248756934	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgtggatcagaagtaTcaatgtaatattccaagaca	16	11	8	6	0	3	2	3	0	0	2	4	3	4	3	1	1	0	2	1	1	7	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248756934T>G	ENST00000330500.2	-	1	166	c.136A>C	c.(136-138)Ata>Cta	p.I46L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCAGAAGTATCAATGTAATA	0.423																																																	0													75	80	78					1																	248756934		2046	4236	6282	SO:0001583	missense	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.136A>C	1.37:g.248756934T>G	ENSP00000329210:p.Ile46Leu		B2RNK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I46L	ENST00000330500.2	37	c.136	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	8.663	0.900928	0.17760	.	.	ENSG00000184022	ENST00000330500	T	0.36157	1.27	2.34	-0.487	0.12060	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20941	0.0504	N	0.25094	0.71	0.09310	N	1	B	0.19200	0.034	B	0.20384	0.029	T	0.22661	-1.0210	9	0.42905	T	0.14	.	4.4726	0.11720	0.0:0.127:0.1951:0.6778	.	46	Q8NGZ9	O2T10_HUMAN	L	46	ENSP00000329210:I46L	ENSP00000329210:I46L	I	-	1	0	OR2T10	246823557	0.094000	0.21725	0.566000	0.28421	0.131000	0.20780	1.186000	0.32078	0.034000	0.15491	-0.719000	0.03609	ATA	OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184022		0.423	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	-	0	26	0	T	NM_001004693		248756934	-1	tier1	-	no_errors	ENST00000330500	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.009	G	G	248756934	T	G	248756934	3	3	22	1	0	0	0	0	1	0	0	0	11056	1435	50	4	805	4	OR2T10	1	248756934	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	465	248756934	493687	27	5873											
MYT1L	23040	genome.wustl.edu	37	chr2	1891271	1891272	+	Frame_Shift_Ins	INS	-	-	T																															atgcttacgttattaagtccINStttttgctctccttgcactg																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:1891271_1891272insT	ENST00000399161.2	-	17	3377_3378	c.2630_2631insA	c.(2629-2631)aagfs	p.K877fs	MYT1L_ENST00000428368.2_Frame_Shift_Ins_p.K875fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	877					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTATTAAGTCCTTTTTGCTCTC	0.446																																																	0																																										SO:0001589	frameshift_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2631dupA	2.37:g.1891276_1891276dupT	ENSP00000382114:p.Lys877fs		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Ins	INS	pfam_Myelin_TF,pfam_Znf_C2HC	p.D878fs	ENST00000399161.2	37	c.2631_2630		2																																																																																			MYT1L	-	NULL	ENSG00000186487		0.446	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1		0	75	0	-	NM_015025		1891272	-1	tier1		no_errors	ENST00000399161	ensembl	human	known	74_37	frame_shift_ins	29.67	64	27	INS	1.000:1.000	T	T	1891272	-	T	1891271	7	5	22	1	0	1	1	0	0	0	0	0	10145	680	24	0	965	0	MYT1L	2	1891271	Frame_Shift_Ins	INS	-	TCGA-IG-A4QS-01A-11D-A27G-09		1891271	241308102	28	5874											
APOB	338	genome.wustl.edu	37	chr2	21233221	21233221	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatcatatatgtctgcagTtgagatagtttttcattaaa	12	18	7	4	0	3	1	2	1	1	1	3	2	3	1	0	0	1	4	0	0	6	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:21233221T>G	ENST00000233242.1	-	26	6646	c.6519A>C	c.(6517-6519)caA>caC	p.Q2173H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2173	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTCTGCAGTTGAGATAGTT	0.259																																																	0													48	48	48					2																	21233221		2200	4299	6499	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6519A>C	2.37:g.21233221T>G	ENSP00000233242:p.Gln2173His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q2173H	ENST00000233242.1	37	c.6519	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	10.61	1.397412	0.25205	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00848	5.62	5.54	0.303	0.15791	.	0.000000	0.64402	D	0.000020	T	0.01976	0.0062	M	0.76574	2.34	0.50039	D	0.999843	D	0.62365	0.991	P	0.52710	0.707	T	0.58463	-0.7632	10	0.72032	D	0.01	.	1.4841	0.02443	0.1455:0.3438:0.1485:0.3621	.	2173	P04114	APOB_HUMAN	H	2173	ENSP00000233242:Q2173H	ENSP00000233242:Q2173H	Q	-	3	2	APOB	21086726	1.000000	0.71417	0.978000	0.43139	0.870000	0.49936	1.068000	0.30629	0.053000	0.16036	0.459000	0.35465	CAA	APOB	-	NULL	ENSG00000084674		0.259	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	26	0	T			21233221	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	29.09	39	16	SNP	0.268	G	G	21233221	T	G	21233221	3	3	22	1	0	0	0	0	1	0	0	0	785	1722	60	4	7188	4	APOB	2	21233221	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	19341950	21233221	221966152	29	5875											
SLC8A1	6546	genome.wustl.edu	37	chr2	40656664	40656664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaaaacagaagtctcctatCcgctacccaagcgaacacaa	16	6	6	13	2	1	1	0	0	1	1	3	2	2	1	3	0	4	2	3	0	8	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:40656664C>A	ENST00000403092.1	-	2	790	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	SLC8A1_ENST00000332839.4_Missense_Mutation_p.D253Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D253Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D253Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D253Y|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D253Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D253Y|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D253Y|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D253Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D253Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	253					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.D253N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTCTCCTATCCGCTACCCAA	0.443																																																	1	Substitution - Missense(1)	lung(1)											93	94	94					2																	40656664		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.757G>T	2.37:g.40656664C>A	ENSP00000384763:p.Asp253Tyr		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.D253Y	ENST00000403092.1	37	c.757	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503183	0.44558	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.52295	0.82;0.72;0.82;0.72;0.82;0.82;0.82;0.67;0.82;0.82	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.79885	-0.1614	10	0.87932	D	0	.	17.9158	0.88950	0.0:1.0:0.0:0.0	.	253;253;253;253;253	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	Y	253	ENSP00000383886:D253Y;ENSP00000440727:D253Y;ENSP00000384763:D253Y;ENSP00000385678:D253Y;ENSP00000385188:D253Y;ENSP00000385535:D253Y;ENSP00000332931:D253Y;ENSP00000384908:D253Y;ENSP00000385811:D253Y;ENSP00000443515:D253Y	ENSP00000332931:D253Y	D	-	1	0	SLC8A1	40510168	1.000000	0.71417	0.998000	0.56505	0.258000	0.26162	7.663000	0.83820	2.832000	0.97577	0.655000	0.94253	GAT	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1		0	12	0	C	NM_021097		40656664	-1			no_errors	ENST00000332839	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	40656664	C	A	40656664	3	1	22	1	0	0	0	0	1	0	0	0	14751	855	30	3	2312	3	SLC8A1	2	40656664	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	19423443	40656664	202542709	30	5876											
NRXN1	9378	genome.wustl.edu	37	chr2	50850700	50850700	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaatggggttttgagacaAgtcgtagcagaagtattcag	12	12	13	4	1	1	3	1	2	0	2	2	4	1	3	0	2	1	4	0	2	5	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:50850700A>G	ENST00000406316.2	-	6	2362	c.886T>C	c.(886-888)Ttg>Ctg	p.L296L	NRXN1_ENST00000402717.3_Silent_p.L296L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.L329L|NRXN1_ENST00000406859.3_Silent_p.L296L|NRXN1_ENST00000401669.2_Silent_p.L296L|NRXN1_ENST00000405472.3_Silent_p.L296L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	296	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTTGAGACAAGTCGTAGCAG	0.383																																																	0													130	120	123					2																	50850700		1869	4095	5964	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.886T>C	2.37:g.50850700A>G			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L296	ENST00000406316.2	37	c.886	CCDS54360.1	2																																																																																			NRXN1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000179915		0.383	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	36	0	A			50850700	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	silent	32.26	42	20	SNP	1.000	G	G	50850700	A	G	50850700	2	3	22	1	0	0	0	0	0	0	0	1	10704	69	3	4		4	NRXN1	2	50850700	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	10194036	50850700	192348673	31	5877											
KIAA1841	84542	genome.wustl.edu	37	chr2	61345225	61345225	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagattgggggatctggacCgagtcaagtcaaaggaagca	13	7	15	6	1	3	1	2	1	1	1	3	6	3	4	1	4	1	1	1	4	3	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:61345225C>T	ENST00000402291.1	+	20	2243	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.R668*|KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.R668*|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.R668*	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	668										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGATCTGGACCGAGTCAAGTC	0.353																																																	0													80	86	84					2																	61345225		2203	4300	6503	SO:0001587	stop_gained	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.2002C>T	2.37:g.61345225C>T	ENSP00000385579:p.Arg668*		Q49AF0|Q6ZND0|Q96JI6	Nonsense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.R668*	ENST00000402291.1	37	c.2002	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.608059	0.98387	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.79	3.96	0.45880	.	0.202132	0.44483	D	0.000452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0884	14.8471	0.70267	0.2624:0.7375:0.0:0.0	.	.	.	.	X	668	.	ENSP00000295031:R668X	R	+	1	2	KIAA1841	61198729	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.708000	0.61859	0.751000	0.32900	-0.169000	0.13324	CGA	KIAA1841	-	NULL	ENSG00000162929		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	-	0	43	0	C	NM_032506		61345225	1	tier1	-	no_errors	ENST00000356719	ensembl	human	known	74_37	nonsense	8.47	54	5	SNP	1.000	T	T	61345225	C	T	61345225	4	4	22	1	0	0	0	0	0	1	0	0	8288	644	23	1	2072	1	KIAA1841	2	61345225	Nonsense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	10494525	61345225	181854148	32	5878											
DPP10	57628	genome.wustl.edu	37	chr2	116447470	116447470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactccgtcttgcagtacgcGgcctggggtgtccaagggca	6	8	15	12	3	1	0	0	0	1	0	3	1	3	0	3	4	2	3	3	4	2	2	rs371677426		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:116447470G>A	ENST00000410059.1	+	7	1029	c.549G>A	c.(547-549)gcG>gcA	p.A183A	DPP10_ENST00000393147.2_Silent_p.A187A|DPP10_ENST00000409163.1_Silent_p.A133A|DPP10_ENST00000310323.8_Silent_p.A176A|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	183						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGCAGTACGCGGCCTGGGGTG	0.443																																																	0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	75	83	81		528,561,399,537,549	-4.6	1	2		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,	176/790,187/801,133/747,179/793,183/797	116447470	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.549G>A	2.37:g.116447470G>A			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A187	ENST00000410059.1	37	c.561	CCDS46400.1	2																																																																																			DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.443	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	36	0	G	NM_020868		116447470	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.959	A	A	116447470	G	A	116447470	2	1	22	1	0	0	0	0	0	0	0	1	4741	1103	39	1		1	DPP10	2	116447470	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	55102245	116447470	126751903	33	5879											
MARCO	8685	genome.wustl.edu	37	chr2	119727832	119727832	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtgcatcgaggctgcaAgtcctgcaggcccaactcac	9	6	12	14	1	1	0	1	0	0	0	3	1	2	0	2	3	4	4	2	3	2	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:119727832A>T	ENST00000327097.4	+	3	477	c.342A>T	c.(340-342)caA>caT	p.Q114H	MARCO_ENST00000541757.1_Missense_Mutation_p.Q36H	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	114					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CGAGGCTGCAAGTCCTGCAGG	0.612																																					GBM(8;18 374 7467 11269 32796)												0													75	60	65					2																	119727832		2203	4300	6503	SO:0001583	missense	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.342A>T	2.37:g.119727832A>T	ENSP00000318916:p.Gln114His		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.Q114H	ENST00000327097.4	37	c.342	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920126	0.33908	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90385	-2.66;-2.65	4.29	-2.99	0.05497	.	0.878296	0.09799	N	0.754350	T	0.79364	0.4433	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.17433	0.018	T	0.62613	-0.6817	9	.	.	.	.	1.1982	0.01879	0.3161:0.3015:0.0894:0.2929	.	114	Q9UEW3	MARCO_HUMAN	H	114;114;36;36	ENSP00000318916:Q114H;ENSP00000441769:Q36H	.	Q	+	3	2	MARCO	119444302	0.053000	0.20554	0.006000	0.13384	0.001000	0.01503	0.089000	0.15002	-0.489000	0.06716	-0.488000	0.04728	CAA	MARCO	-	NULL	ENSG00000019169		0.612	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0	26	0	A	NM_006770		119727832	1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.007	T	T	119727832	A	T	119727832	3	4	22	1	0	0	0	0	1	0	0	0	9349	69	3	5	352	5	MARCO	2	119727832	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	3280362	119727832	123471541	34	5880											
LRP1B	53353	genome.wustl.edu	37	chr2	141208225	141208225	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacatttgtcagttttgcaAcgaaacttaaaaaagaaaaa	20	11	5	5	1	1	1	1	0	0	1	1	2	1	1	0	0	4	2	0	0	8	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:141208225A>G	ENST00000389484.3	-	63	10940	c.9969T>C	c.(9967-9969)cgT>cgC	p.R3323R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3323	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTTTGCAACGAAACTTAA	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													87	85	86					2																	141208225		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9969T>C	2.37:g.141208225A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R3323	ENST00000389484.3	37	c.9969	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0	16	0	A	NM_018557		141208225	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.936	G	G	141208225	A	G	141208225	2	3	22	1	0	0	0	0	0	0	0	1	8990	30	2	4		4	LRP1B	2	141208225	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	21480393	141208225	101991148	35	5881											
SCN1A	6323	genome.wustl.edu	37	chr2	166848866	166848866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattcggccaatcctagcaAgacggatcactcggaacagg	12	6	12	11	3	1	1	1	0	0	1	4	4	2	4	2	5	2	1	2	5	4	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:166848866A>G	ENST00000303395.4	-	26	4918	c.4919T>C	c.(4918-4920)cTt>cCt	p.L1640P	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1629P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.L1640P|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1612P			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1640					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCCTAGCAAGACGGATCAC	0.463																																																	0													122	118	119					2																	166848866		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4919T>C	2.37:g.166848866A>G	ENSP00000303540:p.Leu1640Pro		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.L1640P	ENST00000303395.4	37	c.4919	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194901	0.78902	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000075	D	0.99417	0.9794	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98402	1.0568	10	0.87932	D	0	.	15.2026	0.73153	1.0:0.0:0.0:0.0	.	1629	P35498-2	.	P	1640;1640;1629;1612	ENSP00000407030:L1640P;ENSP00000303540:L1640P;ENSP00000364554:L1629P;ENSP00000386312:L1612P	ENSP00000303540:L1640P	L	-	2	0	SCN1A	166557112	1.000000	0.71417	0.867000	0.34043	0.997000	0.91878	9.122000	0.94380	1.979000	0.57680	0.528000	0.53228	CTT	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	74	0	A	NM_006920		166848866	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	20.83	95	25	SNP	0.998	G	G	166848866	A	G	166848866	3	3	22	1	0	0	0	0	1	0	0	0	13959	72	3	4	1114	4	SCN1A	2	166848866	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	25640641	166848866	76350507	36	5882											
SCN1A	6323	genome.wustl.edu	37	chr2	166897743	166897743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttccaatatgcttaccaAgtttcctactgtaagcacat	12	13	4	12	0	0	0	0	0	0	0	2	0	2	0	4	0	4	4	4	0	6	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:166897743A>C	ENST00000303395.4	-	13	2412	c.2413T>G	c.(2413-2415)Ttg>Gtg	p.L805V	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L794V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.L805V|SCN1A_ENST00000409050.1_Missense_Mutation_p.L777V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	805					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGCTTACCAAGTTTCCTACT	0.368																																																	0													71	64	67					2																	166897743		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2413T>G	2.37:g.166897743A>C	ENSP00000303540:p.Leu805Val		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.L805V	ENST00000303395.4	37	c.2413	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097447	0.56075	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.54	4.39	0.52855	Ion transport (1);	0.000000	0.52532	D	0.000071	D	0.95875	0.8657	L	0.39245	1.2	0.42561	D	0.993149	B;B;B	0.27450	0.015;0.019;0.179	B;B;B	0.33960	0.015;0.026;0.173	D	0.93490	0.6835	10	0.59425	D	0.04	.	7.7696	0.28999	0.7929:0.0:0.2071:0.0	.	794;777;805	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	805;805;794;777	ENSP00000407030:L805V;ENSP00000303540:L805V;ENSP00000364554:L794V;ENSP00000386312:L777V	ENSP00000303540:L805V	L	-	1	2	SCN1A	166605989	0.804000	0.28969	1.000000	0.80357	0.974000	0.67602	0.431000	0.21444	1.040000	0.40099	0.482000	0.46254	TTG	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	37	0	A	NM_006920		166897743	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.992	C	C	166897743	A	C	166897743	3	2	22	1	0	0	0	0	1	0	0	0	13959	69	3	4	3672	4	SCN1A	2	166897743	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	48877	166897743	76301630	37	5883											
SCN9A	6335	genome.wustl.edu	37	chr2	167134735	167134735	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcacaataaggctgtcaAaaatattccagcctacttgg	15	10	7	9	0	2	0	2	0	0	0	3	0	3	0	2	2	2	1	2	2	7	5	rs182018126		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:167134735A>C	ENST00000409435.1	-	14	2431	c.2432T>G	c.(2431-2433)tTt>tGt	p.F811C	SCN9A_ENST00000375387.4_Missense_Mutation_p.F812C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F812C|SCN9A_ENST00000409672.1_Missense_Mutation_p.F800C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	811					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGCTGTCAAAAATATTCCA	0.373																																																	0													74	71	72					2																	167134735		1897	4163	6060	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2432T>G	2.37:g.167134735A>C	ENSP00000386330:p.Phe811Cys		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.F812C	ENST00000409435.1	37	c.2435	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383054	0.82792	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000007	D	0.99521	0.9829	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.97825	1.0259	10	0.87932	D	0	.	15.0761	0.72077	1.0:0.0:0.0:0.0	.	800	E7EUN6	.	C	800;812;812;811	ENSP00000386306:F800C;ENSP00000364536:F812C;ENSP00000304748:F812C;ENSP00000386330:F811C	ENSP00000304748:F812C	F	-	2	0	SCN9A	166842981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.088000	0.63022	0.533000	0.62120	TTT	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.373	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	34	0	A	NM_002977		167134735	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	56.86	22	29	SNP	1.000	C	C	167134735	A	C	167134735	3	2	22	1	0	0	0	0	1	0	0	0	13970	14	1	4	3586	4	SCN9A	2	167134735	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	236992	167134735	76064638	38	5884											
SCN7A	6332	genome.wustl.edu	37	chr2	167334095	167334095	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatcaggagttggctttaAgtcttcttcttcatggtctt	8	17	8	8	0	6	0	2	0	4	0	6	1	6	1	0	3	0	2	0	3	2	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:167334095A>C	ENST00000409855.1	-	2	238	c.112T>G	c.(112-114)Tta>Gta	p.L38V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	38					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTTGGCTTTAAGTCTTCTTCT	0.398																																																	0													69	63	65					2																	167334095		1829	4079	5908	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.112T>G	2.37:g.167334095A>C	ENSP00000386796:p.Leu38Val			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L38V	ENST00000409855.1	37	c.112	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891896	0.33442	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98090	-4.08;-4.1;-4.71	4.63	3.5	0.40072	.	0.210744	0.24580	N	0.037312	D	0.97297	0.9116	M	0.80183	2.485	0.30074	N	0.8098	D	0.60575	0.988	P	0.54759	0.76	D	0.94248	0.7491	10	0.41790	T	0.15	.	4.1352	0.10167	0.7403:0.0:0.2597:0.0	.	38	Q01118	SCN7A_HUMAN	V	38	ENSP00000386796:L38V;ENSP00000413699:L38V;ENSP00000403846:L38V	ENSP00000259060:L38V	L	-	1	2	SCN7A	167042341	0.537000	0.26386	0.989000	0.46669	0.823000	0.46562	1.556000	0.36288	2.067000	0.61834	0.533000	0.62120	TTA	SCN7A	-	NULL	ENSG00000136546		0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	42	0	A			167334095	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	20.34	46	12	SNP	0.994	C	C	167334095	A	C	167334095	3	2	22	1	0	0	0	0	1	0	0	0	13968	69	3	4	5032	4	SCN7A	2	167334095	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	199360	167334095	75865278	39	5885											
PDE11A	50940	genome.wustl.edu	37	chr2	178494173	178494173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctaccataacactggcagGggaggatgaggcagttgagg	11	6	17	7	0	0	2	0	2	0	0	0	4	0	4	1	7	2	4	1	7	2	3	rs397723704|rs3830637	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:178494173G>A	ENST00000286063.6	-	20	3081	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	PDE11A_ENST00000449286.2_Missense_Mutation_p.P564S|PDE11A_ENST00000358450.4_Missense_Mutation_p.P672S|PDE11A_ENST00000450799.2_Missense_Mutation_p.P113S|PDE11A_ENST00000389683.3_Missense_Mutation_p.P478S|PDE11A_ENST00000409504.1_Missense_Mutation_p.P564S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	922					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ACACTGGCAGGGGAGGATGAG	0.502									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													236	179	198					2																	178494173		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2764C>T	2.37:g.178494173G>A	ENSP00000286063:p.Pro922Ser		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.P922S	ENST00000286063.6	37	c.2764	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.592474|1.592474	0.28357|0.28357	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000436700|ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T;T	.|0.70749	.|-0.17;0.06;-0.1;-0.06;-0.51;-0.06	5.62|5.62	-0.681|-0.681	0.11342|0.11342	.|.	3.486060|3.486060	0.00890|0.00890	N|N	0.002221|0.002221	T|T	0.49915|0.49915	0.1585|0.1585	N|N	0.14661|0.14661	0.345|0.345	0.20196|0.20196	N|N	0.99993|0.99993	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.28235|0.28235	-1.0050|-1.0050	6|10	.|0.36615	.|T	.|0.2	.|.	0.627|0.627	0.00788|0.00788	0.3361:0.1255:0.2887:0.2497|0.3361:0.1255:0.2887:0.2497	.|.	.|672;922	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	L|S	124|922;672;113;564;478;564	.|ENSP00000286063:P922S;ENSP00000351232:P672S;ENSP00000387964:P113S;ENSP00000386539:P564S;ENSP00000374333:P478S;ENSP00000390599:P564S	.|ENSP00000286063:P922S	P|P	-|-	2|1	0|0	PDE11A|PDE11A	178202419|178202419	0.452000|0.452000	0.25713|0.25713	0.002000|0.002000	0.10522|0.10522	0.053000|0.053000	0.15095|0.15095	0.290000|0.290000	0.18975|0.18975	-0.018000|-0.018000	0.14079|0.14079	-0.293000|-0.293000	0.09583|0.09583	CCC|CCT	PDE11A	-	NULL	ENSG00000128655		0.502	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2		0	77	0	G			178494173	-1			no_errors	ENST00000286063	ensembl	human	known	74_37	missense	6.31	104	7	SNP	0.002	A	A	178494173	G	A	178494173	3	1	22	1	0	0	0	0	1	0	0	0	11670	1232	43	3	41	3	PDE11A	2	178494173	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	11160078	178494173	64705200	40	5886											
RBM45	129831	genome.wustl.edu	37	chr2	178990805	178990805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgctaatgatgccattGccactctacatggaaagatt	13	12	8	8	0	1	2	0	1	1	1	1	3	1	3	2	1	4	1	2	1	4	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:178990805G>T	ENST00000286070.5	+	9	1419	c.1327G>T	c.(1327-1329)Gcc>Tcc	p.A443S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	445	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TGATGCCATTGCCACTCTACA	0.408																																																	0													139	125	130					2																	178990805		2203	4300	6503	SO:0001583	missense	0			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"RNA binding motif (RRM) containing"	24468	protein-coding gene	gene with protein product	"developmentally regulated RNA binding protein 1"	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1327G>T	2.37:g.178990805G>T	ENSP00000286070:p.Ala443Ser		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A443S	ENST00000286070.5	37	c.1327	CCDS33335.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	7.870|7.870|7.870	0.727878|0.727878|0.727878	0.15507|0.15507|0.15507	.|.|.	.|.|.	ENSG00000155636|ENSG00000155636|ENSG00000155636	ENST00000286070|ENST00000424099|ENST00000455903	T|.|.	0.05855|.|.	3.38|.|.	5.74|5.74|5.74	-0.202|-0.202|-0.202	0.13208|0.13208|0.13208	.|.|.	0.637034|.|.	0.16755|.|.	N|.|.	0.200865|.|.	T|T|T	0.18425|0.18425|0.18425	0.0442|0.0442|0.0442	N|N|N	0.16016|0.16016|0.16016	0.355|0.355|0.355	0.22873|0.22873|0.22873	N|N|N	0.998625|0.998625|0.998625	B|.|.	0.02656|.|.	0.0|.|.	B|.|.	0.06405|.|.	0.002|.|.	T|T|T	0.27806|0.27806|0.27806	-1.0063|-1.0063|-1.0063	10|5|5	0.49607|.|.	T|.|.	0.09|.|.	-2.8441|-2.8441|-2.8441	5.1133|5.1133|5.1133	0.14821|0.14821|0.14821	0.471:0.0:0.3891:0.1399|0.471:0.0:0.3891:0.1399|0.471:0.0:0.3891:0.1399	.|.|.	443|.|.	Q8IUH3-3|.|.	.|.|.	S|F|F	443|41|103	ENSP00000286070:A443S|.|.	ENSP00000286070:A443S|.|.	A|C|L	+|+|+	1|2|3	0|0|2	RBM45|RBM45|RBM45	178699051|178699051|178699051	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.707000|0.707000|0.707000	0.30419|0.30419|0.30419	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	1.192000|1.192000|1.192000	0.32150|0.32150|0.32150	0.156000|0.156000|0.156000	0.19299|0.19299|0.19299	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|TGC|TTG	RBM45	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000155636		0.408	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	-	0	40	0	G	NM_152945		178990805	1	tier1	-	no_errors	ENST00000286070	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.810	T	T	178990805	G	T	178990805	3	4	22	1	0	0	0	0	1	0	0	0	13184	1319	46	3	1361	3	RBM45	2	178990805	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	496632	178990805	64208568	41	5887											
DNAH7	56171	genome.wustl.edu	37	chr2	196834703	196834703	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatccaactttccattcAgtatttgagccttttttagg	10	17	5	9	0	1	1	1	1	0	0	3	1	3	1	3	1	2	1	3	1	5	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:196834703A>C	ENST00000312428.6	-	17	2274	c.2174T>G	c.(2173-2175)cTg>cGg	p.L725R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	725	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTCCATTCAGTATTTGAGC	0.313																																																	0													85	77	79					2																	196834703		1815	4074	5889	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2174T>G	2.37:g.196834703A>C	ENSP00000311273:p.Leu725Arg		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L725R	ENST00000312428.6	37	c.2174	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994647	0.74703	.	.	ENSG00000118997	ENST00000312428	T	0.26518	1.73	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000007	T	0.56891	0.2016	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64462	-0.6402	10	0.62326	D	0.03	.	15.2842	0.73814	1.0:0.0:0.0:0.0	.	725	Q8WXX0	DYH7_HUMAN	R	725	ENSP00000311273:L725R	ENSP00000311273:L725R	L	-	2	0	DNAH7	196542948	1.000000	0.71417	0.920000	0.36463	0.802000	0.45316	8.281000	0.89905	2.159000	0.67721	0.383000	0.25322	CTG	DNAH7	-	NULL	ENSG00000118997		0.313	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	44	0	A	NM_018897		196834703	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	28.57	50	20	SNP	1.000	C	C	196834703	A	C	196834703	3	2	22	1	0	0	0	0	1	0	0	0	4620	188	7	4	10096	4	DNAH7	2	196834703	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	17843898	196834703	46364670	42	5888											
PLCL1	5334	genome.wustl.edu	37	chr2	198968589	198968589	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttcataatttgggggcaAaagaaggcttgaagggaaga	16	8	13	4	0	1	3	1	1	0	2	1	4	1	4	0	4	1	2	0	4	7	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:198968589A>C	ENST00000428675.1	+	5	3432	c.3034A>C	c.(3034-3036)Aaa>Caa	p.K1012Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.K914Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1012					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTGGGGGCAAAAGAAGGCTT	0.383																																																	0													76	76	76					2																	198968589		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3034A>C	2.37:g.198968589A>C	ENSP00000402861:p.Lys1012Gln		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K1012Q	ENST00000428675.1	37	c.3034	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087369	0.76642	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18502	2.21;2.24	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	T	0.27629	0.0679	M	0.80982	2.52	0.58432	D	0.99999	P;P	0.34757	0.467;0.467	B;B	0.38683	0.279;0.279	T	0.04153	-1.0973	9	.	.	.	.	14.1073	0.65099	1.0:0.0:0.0:0.0	.	1012;938	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	1012;914	ENSP00000402861:K1012Q;ENSP00000414138:K914Q	.	K	+	1	0	PLCL1	198676834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.141000	0.89618	2.164000	0.68074	0.528000	0.53228	AAA	PLCL1	-	NULL	ENSG00000115896		0.383	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	45	0	A	NM_006226		198968589	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	C	C	198968589	A	C	198968589	3	2	22	1	0	0	0	0	1	0	0	0	12078	15	1	4	3052	4	PLCL1	2	198968589	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	2133886	198968589	44230784	43	5889											
PLEKHM3	389072	genome.wustl.edu	37	chr2	208866231	208866231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtacctcatgccccaccaGttcagggacttcctggatcc	8	9	9	15	0	2	0	2	0	0	0	4	3	4	2	6	2	2	2	6	2	1	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:208866231G>T	ENST00000427836.2	-	2	622	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.L45M|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.L45M	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	45					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCCCCACCAGTTCAGGGACT	0.478																																																	0													110	110	110					2																	208866231		1939	4145	6084	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.133C>A	2.37:g.208866231G>T	ENSP00000417003:p.Leu45Met		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L45M	ENST00000427836.2	37	c.133	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448185	0.63178	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.87729	-2.2;-2.22;-2.29	5.84	0.755	0.18415	.	0.427671	0.21293	N	0.076929	D	0.87038	0.6078	L	0.29908	0.895	0.31982	N	0.605797	D;D	0.89917	1.0;0.998	D;P	0.69307	0.963;0.897	D	0.85830	0.1391	10	0.72032	D	0.01	.	9.9598	0.41688	0.4913:0.0:0.5087:0.0	.	45;45	C9J119;Q6ZWE6	.;PKHM3_HUMAN	M	45	ENSP00000417003:L45M;ENSP00000373899:L45M;ENSP00000400150:L45M	ENSP00000373899:L45M	L	-	1	2	PLEKHM3	208574476	0.962000	0.33011	0.998000	0.56505	0.993000	0.82548	0.291000	0.18994	0.136000	0.18733	0.650000	0.86243	CTG	PLEKHM3	-	NULL	ENSG00000178385		0.478	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	-	0	28	0	G	NM_001080475		208866231	-1	tier1	-	no_errors	ENST00000427836	ensembl	human	known	74_37	missense	56.52	20	26	SNP	0.993	T	T	208866231	G	T	208866231	3	4	22	1	0	0	0	0	1	0	0	0	12121	1020	36	3	2180	3	PLEKHM3	2	208866231	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	9897642	208866231	34333142	44	5890											
SPAG16	79582	genome.wustl.edu	37	chr2	215013957	215013957	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccatcgatataggtccaAgtcctggcaatgaggtgaat	11	11	11	8	1	0	2	0	2	0	0	4	3	3	2	3	3	0	1	3	3	5	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:215013957A>C	ENST00000331683.5	+	15	1782	c.1687A>C	c.(1687-1689)Agt>Cgt	p.S563R	SPAG16_ENST00000374309.3_Missense_Mutation_p.S469R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	563					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATAGGTCCAAGTCCTGGCAA	0.393																																																	0													170	167	168					2																	215013957		2203	4300	6503	SO:0001583	missense	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1687A>C	2.37:g.215013957A>C	ENSP00000332592:p.Ser563Arg		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S563R	ENST00000331683.5	37	c.1687	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382024	0.61845	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	D;D;D	0.81996	-1.56;-1.56;-1.55	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.489582	0.22772	N	0.055830	D	0.87517	0.6197	L	0.59436	1.845	0.31309	N	0.687311	D;D;B;D	0.89917	0.999;1.0;0.122;0.999	D;D;B;D	0.77004	0.941;0.989;0.029;0.941	D	0.84765	0.0764	10	0.23302	T	0.38	.	10.7828	0.46388	0.7353:0.2647:0.0:0.0	.	469;414;503;563	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	R	563;469;187	ENSP00000332592:S563R;ENSP00000363428:S469R;ENSP00000416600:S187R	ENSP00000332592:S563R	S	+	1	0	SPAG16	214722202	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.953000	0.56699	2.308000	0.77769	0.533000	0.62120	AGT	SPAG16	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144451		0.393	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	-	0	70	0	A	NM_024532		215013957	1	tier1	-	no_errors	ENST00000331683	ensembl	human	known	74_37	missense	26.96	84	31	SNP	1.000	C	C	215013957	A	C	215013957	3	2	22	1	0	0	0	0	1	0	0	0	15025	72	3	4	1761	4	SPAG16	2	215013957	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	6147726	215013957	28185416	45	5891											
ABCA12	26154	genome.wustl.edu	37	chr2	215866355	215866355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatggtttttgctgcctgAatacggtcatataatacaca	11	15	7	8	1	2	1	1	1	1	0	2	1	2	1	1	2	4	2	1	2	6	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:215866355A>G	ENST00000272895.7	-	21	3009	c.2790T>C	c.(2788-2790)atT>atC	p.I930I	ABCA12_ENST00000389661.4_Silent_p.I612I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	930					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTGCCTGAATACGGTCAT	0.378																																					Ovarian(66;664 1488 5121 34295)												0													175	167	170					2																	215866355		2203	4300	6503	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2790T>C	2.37:g.215866355A>G			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I930	ENST00000272895.7	37	c.2790	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	82	0	A	NM_173076		215866355	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	silent	27.14	102	38	SNP	1.000	G	G	215866355	A	G	215866355	2	3	22	1	0	0	0	0	0	0	0	1	30	242	9	4		4	ABCA12	2	215866355	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	852398	215866355	27333018	46	5892											
ABCA12	26154	genome.wustl.edu	37	chr2	215890500	215890500	+	Frame_Shift_Del	DEL	T	T	-																															tggactgcaggagtcttagaTtttctgtaaaggaagggaga																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:215890500delT	ENST00000272895.7	-	11	1403	c.1184delA	c.(1183-1185)aatfs	p.N395fs	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Frame_Shift_Del_p.N77fs|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000602182.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	395					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCTTAGATTTTCTGTAAA	0.353																																					Ovarian(66;664 1488 5121 34295)												0													64	65	65					2																	215890500		2203	4300	6503	SO:0001589	frameshift_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1184delA	2.37:g.215890500delT	ENSP00000272895:p.Asn395fs		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N395fs	ENST00000272895.7	37	c.1184	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1		0	50	0	T	NM_173076		215890500	-1	tier1		no_errors	ENST00000272895	ensembl	human	known	74_37	frame_shift_del	17.74	51	11	DEL	1.000	-	-	215890500	T	-	215890500	7	5	22	1	0	1	0	1	0	0	0	0	30	1493	52	0	6775	0	ABCA12	2	215890500	Frame_Shift_Del	DEL	T	TCGA-IG-A4QS-01A-11D-A27G-09	24145	215890500	27308873	47	5893											
MARCH4	57574	genome.wustl.edu	37	chr2	217148414	217148414	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggctggtgtgtgcacttGaccgagccatcacagcggca	9	7	13	12	2	1	1	1	1	0	0	1	2	1	1	2	3	3	3	2	3	1	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:217148414G>C	ENST00000273067.4	-	2	2321	c.555C>G	c.(553-555)gtC>gtG	p.V185V		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	185						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTGTGCACTTGACCGAGCCAT	0.602																																																	0													62	55	58					2																	217148414		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.555C>G	2.37:g.217148414G>C			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.V185	ENST00000273067.4	37	c.555	CCDS33376.1	2																																																																																			MARCH4	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	ENSG00000144583		0.602	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0	45	0	G	NM_020814		217148414	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	31.67	41	19	SNP	1.000	C	C	217148414	G	C	217148414	2	2	22	1	0	0	0	0	0	0	0	1	9341	1277	45	5		5	MARCH4	2	217148414	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1257914	217148414	26050959	48	5894											
KIAA1486	57624	genome.wustl.edu	37	chr2	226446657	226446657	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgttttttcttcttttagCgtcagctaaaccaagacccc	9	15	5	12	2	3	1	1	0	2	1	3	1	3	1	3	0	4	2	3	0	5	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:226446657C>A	ENST00000272907.6	+	4	937	c.524C>A	c.(523-525)gCg>gAg	p.A175E	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	175					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTTCTTTTAGCGTCAGCTAAA	0.403																																																	0													81	83	82					2																	226446657		1850	4077	5927	SO:0001630	splice_region_variant	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.524-1C>A	2.37:g.226446657C>A			A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.A175E	ENST00000272907.6	37	c.524	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	T	3.320	-0.139026	0.06669	.	.	ENSG00000144460	ENST00000272907	T	0.32753	1.44	5.8	3.27	0.37495	.	0.559885	0.16456	N	0.213626	T	0.19366	0.0465	L	0.27053	0.805	0.54753	D	0.999987	B	0.21688	0.059	B	0.17433	0.018	T	0.04961	-1.0915	9	.	.	.	.	8.6541	0.34053	0.0:0.1287:0.1168:0.7545	.	175	Q9P242	K1486_HUMAN	E	175	ENSP00000272907:A175E	.	A	+	2	0	KIAA1486	226154901	0.980000	0.34600	0.196000	0.23383	0.060000	0.15804	0.696000	0.25541	0.462000	0.27095	-0.275000	0.10095	GCG	NYAP2	-	NULL	ENSG00000144460		0.403	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1		0	32	0	C	NM_020864	Missense_Mutation	226446657	1			no_errors	ENST00000272907	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.494	A	A	226446657	C	A	226446657	5	1	22	1	0	0	0	0	0	0	1	0	8264	782	27	2	534	2	KIAA1486	2	226446657	Splice_Site	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	9298243	226446657	16752716	49	5895											
PSMD1	5707	genome.wustl.edu	37	chr2	232018342	232018342	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgatgatgtcatggccaAgtttggcgctattctggccc	7	12	12	10	1	2	2	1	2	1	0	2	2	2	2	2	3	0	3	2	3	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:232018342A>C	ENST00000308696.6	+	19	2342	c.2180A>C	c.(2179-2181)aAg>aCg	p.K727T	PSMD1_ENST00000373635.4_Missense_Mutation_p.K727T|PSMD1_ENST00000409643.1_Missense_Mutation_p.K727T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	727					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GTCATGGCCAAGTTTGGCGCT	0.353																																																	0													114	106	109					2																	232018342		2203	4300	6503	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2180A>C	2.37:g.232018342A>C	ENSP00000309474:p.Lys727Thr		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.K727T	ENST00000308696.6	37	c.2180	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823551	0.90873	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.37411	1.2;1.2;1.2	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.85130	0.912;0.997	T	0.77638	-0.2513	10	0.66056	D	0.02	-18.4446	15.7648	0.78117	1.0:0.0:0.0:0.0	.	727;727	Q99460;Q99460-2	PSMD1_HUMAN;.	T	727	ENSP00000309474:K727T;ENSP00000362738:K727T;ENSP00000386932:K727T	ENSP00000309474:K727T	K	+	2	0	PSMD1	231726586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.932000	0.92897	2.112000	0.64535	0.482000	0.46254	AAG	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.353	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	-	0	40	0	A			232018342	1	tier1	-	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	C	C	232018342	A	C	232018342	3	2	22	1	0	0	0	0	1	0	0	0	12734	72	3	4	2254	4	PSMD1	2	232018342	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	5571685	232018342	11181031	50	5896											
SNED1	25992	genome.wustl.edu	37	chr2	242004959	242004959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctcagtgaagcgaaaCagtaacaacaagaatgacat	17	8	8	8	1	2	3	1	2	2	1	3	4	2	3	0	0	4	1	0	0	6	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:242004959C>T	ENST00000310397.8	+	21	2958	c.2958C>T	c.(2956-2958)aaC>aaT	p.N986N	SNED1_ENST00000401884.1_Silent_p.N986N|SNED1_ENST00000342631.6_Silent_p.N986N|SNED1_ENST00000405547.3_Silent_p.N986N|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	986	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGAAGCGAAACAGTAACAACA	0.657																																																	0													25	32	30					2																	242004959		2064	4186	6250	SO:0001819	synonymous_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2958C>T	2.37:g.242004959C>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.N986	ENST00000310397.8	37	c.2958	CCDS46562.1	2																																																																																			SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000162804		0.657	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2		0	60	0	C	XM_059482		242004959	1			no_errors	ENST00000310397	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.084	T	T	242004959	C	T	242004959	2	4	22	1	0	0	0	0	0	0	0	1	14890	477	17	3		3	SNED1	2	242004959	Silent	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	9986617	242004959	1194414	51	5897											
GRM7	2917	genome.wustl.edu	37	chr3	7188173	7188173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcatcaacggcacccgAgctaagtgatgaccggcgct	10	8	11	12	4	1	2	1	2	0	0	1	3	1	2	2	2	3	4	2	2	3	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:7188173A>G	ENST00000357716.4	+	2	828	c.554A>G	c.(553-555)gAg>gGg	p.E185G	GRM7_ENST00000402647.2_Missense_Mutation_p.E185G|GRM7_ENST00000389336.4_Missense_Mutation_p.E185G|GRM7_ENST00000486284.1_Missense_Mutation_p.E185G|GRM7_ENST00000403881.1_Missense_Mutation_p.E185G	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	185					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ACGGCACCCGAGCTAAGTGAT	0.517																																																	0													130	115	120					3																	7188173		2203	4300	6503	SO:0001583	missense	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.554A>G	3.37:g.7188173A>G	ENSP00000350348:p.Glu185Gly		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E185G	ENST00000357716.4	37	c.554	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706602	0.68615	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.74	5.74	0.90152	Extracellular ligand-binding receptor (1);	0.117044	0.56097	D	0.000030	D	0.90256	0.6953	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.998	D;D;D	0.75484	0.986;0.982;0.978	D	0.88732	0.3237	10	0.27785	T	0.31	.	15.1655	0.72821	1.0:0.0:0.0:0.0	.	185;185;185	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	G	185	ENSP00000350348:E185G;ENSP00000417536:E185G;ENSP00000373987:E185G;ENSP00000385664:E185G;ENSP00000384585:E185G	ENSP00000350348:E185G	E	+	2	0	GRM7	7163173	1.000000	0.71417	0.989000	0.46669	0.032000	0.12392	9.287000	0.95975	2.317000	0.78254	0.460000	0.39030	GAG	GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000196277		0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0	37	0	A	NM_000844		7188173	1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	missense	43.48	26	20	SNP	1.000	G	G	7188173	A	G	7188173	3	3	22	1	0	0	0	0	1	0	0	0	6829	304	11	4	560	4	GRM7	3	7188173	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09		7188173	190834257	52	5898											
SYN2	6854	genome.wustl.edu	37	chr3	12224813	12224813	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttttgtcttccagaGcggaacacttaaggatccgg	10	13	9	9	2	1	1	0	0	1	1	3	3	3	3	2	3	3	0	2	3	3	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:12224813G>T	ENST00000432424.2	+	0	1482							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GTCTTCCAGAGCGGAACACTT	0.488																																																	0													37	37	37					3																	12224813		1853	4102	5955			0				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12224813G>T			A8MY98	RNA	SNP	-	NULL	ENST00000432424.2	37	NULL		3	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875472	0.33162	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.94	4.94	0.65067	.	0.265114	0.37577	N	0.002025	T	0.38295	0.1035	L	0.29908	0.895	0.28124	N	0.930461	P;P	0.48294	0.851;0.908	B;P	0.46543	0.321;0.52	T	0.37407	-0.9707	9	0.87932	D	0	-7.4896	13.5131	0.61524	0.0:0.0:0.8439:0.1561	.	437;437	Q92777;Q92777-2	SYN2_HUMAN;.	I	369	.	ENSP00000442512:S369I	S	+	2	0	SYN2	12199813	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	4.205000	0.58466	2.447000	0.82792	0.655000	0.94253	AGC	SYN2	-	-	ENSG00000157152		0.488	SYN2-002	KNOWN	basic	processed_transcript	SYN2	HGNC	processed_transcript	OTTHUMT00000339528.3	-	0	61	0	G	NM_133625		12224813	1	tier1	-	no_errors	ENST00000425297	ensembl	human	known	74_37	rna	5.56	68	4	SNP	1.000	T	T	12224813	G	T	12224813	1	4	22	0	1	0	0	0	0	0	0	0	15488	985	34	3		3	SYN2	3	12224813	RNA	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	5036640	12224813	185797617	53	5899											
NR2C2	7182	genome.wustl.edu	37	chr3	15064742	15064742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcccttcgatgtgcaaCgggagaaaccaagcaattgt	13	7	12	9	2	0	1	0	0	0	1	1	4	0	2	2	2	5	2	2	2	5	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:15064742C>T	ENST00000425241.1	+	6	954	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	NR2C2_ENST00000406272.2_Missense_Mutation_p.R198W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R217W|NR2C2_ENST00000393102.3_Missense_Mutation_p.R198W			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	198					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGATGTGCAACGGGAGAAACC	0.423																																																	0													126	120	122					3																	15064742		2203	4300	6503	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.592C>T	3.37:g.15064742C>T	ENSP00000388387:p.Arg198Trp		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R217W	ENST00000425241.1	37	c.649		3	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965866	0.53507	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.87	5.87	0.94306	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	M	0.71036	2.16	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	P;P	0.60949	0.881;0.849	D	0.96191	0.9138	10	0.87932	D	0	.	15.3179	0.74095	0.1398:0.8602:0.0:0.0	.	198;217	P49116;F2YGU2	NR2C2_HUMAN;.	W	198;217;198;198	ENSP00000388387:R198W;ENSP00000320447:R217W;ENSP00000376814:R198W;ENSP00000384463:R198W	ENSP00000320447:R217W	R	+	1	2	NR2C2	15039746	0.871000	0.30034	0.993000	0.49108	0.007000	0.05969	1.665000	0.37449	2.941000	0.99782	0.655000	0.94253	CGG	NR2C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000177463		0.423	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	-	0	49	0	C	NM_003298		15064742	1	tier1	-	no_errors	ENST00000323373	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.995	T	T	15064742	C	T	15064742	3	4	22	1	0	0	0	0	1	0	0	0	10662	527	19	1	671	1	NR2C2	3	15064742	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	2839929	15064742	182957688	54	5900											
CACNA1D	776	genome.wustl.edu	37	chr3	53809943	53809943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgaggcctggcaggagatCatgctggcctgtctcccagg	6	8	16	11	0	2	2	1	1	1	1	3	3	2	2	3	6	1	2	3	6	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:53809943C>G	ENST00000350061.5	+	35	4744	c.4233C>G	c.(4231-4233)atC>atG	p.I1411M	CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1396M|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I303M|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1431M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1411					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCAGGAGATCATGCTGGCCT	0.498																																																	0													146	156	153					3																	53809943		2203	4300	6503	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4233C>G	3.37:g.53809943C>G	ENSP00000288133:p.Ile1411Met		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.I1431M	ENST00000350061.5	37	c.4293	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308041	0.81247	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62	5.58	4.7	0.59300	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.964;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.792;0.999;0.998;1.0	D	0.99170	1.0864	10	0.87932	D	0	.	14.8543	0.70323	0.0:0.9296:0.0:0.0704	.	1396;303;1104;1411;1431	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	M	1411;1431;1396;1104;303	ENSP00000288133:I1411M;ENSP00000288139:I1431M;ENSP00000409174:I1396M;ENSP00000418014:I1104M;ENSP00000438229:I303M	ENSP00000288139:I1431M	I	+	3	3	CACNA1D	53784983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.135000	0.42112	2.624000	0.88883	0.650000	0.86243	ATC	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.498	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0	56	0	C	NM_000720		53809943	1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	missense	45.28	29	24	SNP	1.000	G	G	53809943	C	G	53809943	3	3	22	1	0	0	0	0	1	0	0	0	2548	816	29	5	4543	5	CACNA1D	3	53809943	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	38745201	53809943	144212487	55	5901											
LRTM1	57408	genome.wustl.edu	37	chr3	54958788	54958788	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgctgaagctggttttgTtgaaccgcaagtatagttag	10	13	12	6	1	0	2	0	2	0	0	0	2	0	2	1	1	4	8	1	1	6	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:54958788T>G	ENST00000273286.5	-	2	624	c.462A>C	c.(460-462)caA>caC	p.Q154H	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.Q78H|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	154						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTGGTTTTGTTGAACCGCAA	0.488																																																	0													103	100	101					3																	54958788		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.462A>C	3.37:g.54958788T>G	ENSP00000273286:p.Gln154His		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q154H	ENST00000273286.5	37	c.462	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348732	0.24426	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90133	4.31;-2.62	5.96	-1.21	0.09524	.	0.235838	0.44902	D	0.000416	T	0.77532	0.4144	N	0.11201	0.11	0.19575	N	0.999961	B	0.24768	0.111	B	0.26094	0.066	T	0.66972	-0.5788	10	0.40728	T	0.16	.	8.1985	0.31411	0.0:0.4009:0.1123:0.4868	.	154	Q9HBL6	LRTM1_HUMAN	H	154;78	ENSP00000273286:Q154H;ENSP00000419772:Q78H	ENSP00000273286:Q154H	Q	-	3	2	LRTM1	54933828	0.945000	0.32115	0.976000	0.42696	0.658000	0.38924	-0.058000	0.11750	-0.083000	0.12618	-0.290000	0.09829	CAA	LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.488	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	19	0	T	NM_020678		54958788	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.124	G	G	54958788	T	G	54958788	3	3	22	1	0	0	0	0	1	0	0	0	9079	1722	60	4	583	4	LRTM1	3	54958788	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	1148845	54958788	143063642	56	5902											
LRIG1	26018	genome.wustl.edu	37	chr3	66460607	66460607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcggtgaatgcgagcgatgGaattgttgctgaggtggagc	8	10	18	5	3	0	2	0	2	0	0	0	6	0	4	0	4	5	2	0	4	2	2	rs267599927		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:66460607G>A	ENST00000273261.3	-	7	1405	c.881C>T	c.(880-882)tCc>tTc	p.S294F	LRIG1_ENST00000383703.3_Missense_Mutation_p.S294F	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	294					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGAGCGATGGAATTGTTGCT	0.567																																																	0													195	193	194					3																	66460607		2203	4300	6503	SO:0001583	missense	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.881C>T	3.37:g.66460607G>A	ENSP00000273261:p.Ser294Phe		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S294F	ENST00000273261.3	37	c.881	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074146	0.76415	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.26223	1.75;1.75	5.14	4.27	0.50696	.	0.194769	0.45361	D	0.000378	T	0.31765	0.0807	L	0.52364	1.645	0.45216	D	0.998227	P;P;B	0.44690	0.537;0.841;0.402	P;P;P	0.48598	0.567;0.583;0.463	T	0.06661	-1.0814	10	0.72032	D	0.01	.	10.8191	0.46593	0.1525:0.0:0.8475:0.0	.	294;318;294	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	F	294;294;221	ENSP00000273261:S294F;ENSP00000373208:S294F	ENSP00000273261:S294F	S	-	2	0	LRIG1	66543297	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.558000	0.45879	1.303000	0.44873	0.591000	0.81541	TCC	LRIG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144749		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	-	0	40	0	G	NM_015541		66460607	-1	tier1	-	no_errors	ENST00000273261	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	A	A	66460607	G	A	66460607	3	1	22	1	0	0	0	0	1	0	0	0	8979	1174	41	3	2452	3	LRIG1	3	66460607	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	11501819	66460607	131561823	57	5903											
CNTN3	5067	genome.wustl.edu	37	chr3	74347115	74347115	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttccataccttcttcTgcagagaacactgttgtcac	9	15	6	11	0	3	1	1	0	2	1	4	2	4	1	2	0	3	3	2	0	2	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:74347115T>C	ENST00000263665.6	-	17	2421	c.2394A>G	c.(2392-2394)gcA>gcG	p.A798A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	798	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTCTTCTGCAGAGAACA	0.363																																																	0													121	119	119					3																	74347115		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2394A>G	3.37:g.74347115T>C			B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A798	ENST00000263665.6	37	c.2394	CCDS33790.1	3																																																																																			CNTN3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.363	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	26	0	T	NM_020872		74347115	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	silent	40.48	25	17	SNP	1.000	C	C	74347115	T	C	74347115	2	2	22	1	0	0	0	0	0	0	0	1	3649	1567	55	4		4	CNTN3	3	74347115	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	7886508	74347115	123675315	58	5904											
ROBO2	6092	genome.wustl.edu	37	chr3	77147238	77147238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcatcgtctctaagggCgagcccacgactctgaactg	9	9	11	12	3	3	1	1	1	2	0	5	4	3	1	1	1	2	0	1	1	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:77147238C>T	ENST00000461745.1	+	2	1035	c.135C>T	c.(133-135)ggC>ggT	p.G45G	ROBO2_ENST00000487694.3_Silent_p.G61G|ROBO2_ENST00000332191.8_Silent_p.G45G	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	45	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTCTAAGGGCGAGCCCACGA	0.572																																																	0													47	51	50					3																	77147238		1960	4152	6112	SO:0001819	synonymous_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.135C>T	3.37:g.77147238C>T			O43608|Q19AB4|Q19AB5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G45	ENST00000461745.1	37	c.135	CCDS43109.1	3																																																																																			ROBO2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000185008		0.572	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2		0	13	0	C	XM_031246		77147238	1			no_errors	ENST00000461745	ensembl	human	known	74_37	silent	42.86	8	6	SNP	0.980	T	T	77147238	C	T	77147238	2	4	22	1	0	0	0	0	0	0	0	1	13559	760	27	1		1	ROBO2	3	77147238	Silent	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	2800123	77147238	120875192	59	5905											
PROS1	5627	genome.wustl.edu	37	chr3	93617396	93617396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgagcacacatgttctCagagcattcatctatatctg	12	12	7	10	0	4	2	2	1	3	1	5	2	4	2	0	0	3	4	0	0	3	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:93617396C>T	ENST00000394236.3	-	8	1061	c.745G>A	c.(745-747)Gag>Aag	p.E249K	PROS1_ENST00000407433.1_Missense_Mutation_p.E118K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	249	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> K (in THPH5). {ECO:0000269|PubMed:7803790}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CACATGTTCTCAGAGCATTCA	0.378																																																	0			GRCh37	CD041929|CM041821|CM951049	PROS1	D|M							89	81	84					3																	93617396		2203	4300	6503	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.745G>A	3.37:g.93617396C>T	ENSP00000377783:p.Glu249Lys		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.E249K	ENST00000394236.3	37	c.745	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359755	0.82353	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.92805	-3.11;-3.11	4.26	4.26	0.50523	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.303370	0.30593	N	0.009294	D	0.90459	0.7012	L	0.36672	1.1	0.45883	D	0.998731	D	0.55172	0.97	P	0.49332	0.607	D	0.89643	0.3864	10	0.33141	T	0.24	.	17.2048	0.86914	0.0:1.0:0.0:0.0	.	249	P07225	PROS_HUMAN	K	249;118	ENSP00000377783:E249K;ENSP00000385794:E118K	ENSP00000377783:E249K	E	-	1	0	PROS1	95100086	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	3.315000	0.51951	2.374000	0.81015	0.585000	0.79938	GAG	PROS1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000184500		0.378	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0	54	0	C	NM_000313		93617396	-1	tier1	-	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	9.57	85	9	SNP	0.998	T	T	93617396	C	T	93617396	3	4	22	1	0	0	0	0	1	0	0	0	12600	835	29	3	1317	3	PROS1	3	93617396	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	16470158	93617396	104405034	60	5906											
CCDC54	84692	genome.wustl.edu	37	chr3	107096766	107096766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggaggtcctggaaaccaGaatgaatgttaatgaagaca	16	8	12	5	0	0	4	0	2	0	2	1	7	1	6	2	3	1	1	2	3	5	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:107096766G>A	ENST00000261058.1	+	1	579	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	111										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTGGAAACCAGAATGAATGTT	0.378																																																	0													59	57	58					3																	107096766		2203	4300	6503	SO:0001583	missense	0			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"sperm protein 17"					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.332G>A	3.37:g.107096766G>A	ENSP00000261058:p.Arg111Lys		Q96A43	Missense_Mutation	SNP	NULL	p.R111K	ENST00000261058.1	37	c.332	CCDS2949.1	3	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193637	0.22037	.	.	ENSG00000138483	ENST00000261058	T	0.66995	-0.24	5.29	2.42	0.29668	.	0.451698	0.20624	N	0.088718	T	0.51058	0.1652	L	0.39397	1.21	0.09310	N	0.999998	B	0.27882	0.192	B	0.25759	0.063	T	0.40961	-0.9535	10	0.44086	T	0.13	-1.8574	4.9491	0.14004	0.18:0.0:0.6532:0.1668	.	111	Q8NEL0	CCD54_HUMAN	K	111	ENSP00000261058:R111K	ENSP00000261058:R111K	R	+	2	0	CCDC54	108579456	0.103000	0.21917	0.244000	0.24202	0.462000	0.32619	0.949000	0.29109	0.198000	0.20407	0.585000	0.79938	AGA	CCDC54	-	NULL	ENSG00000138483		0.378	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC54	HGNC	protein_coding	OTTHUMT00000353651.1	-	0	22	0	G	NM_032600		107096766	1	tier1	-	no_errors	ENST00000261058	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.377	A	A	107096766	G	A	107096766	3	1	22	1	0	0	0	0	1	0	0	0	2831	942	33	3	334	3	CCDC54	3	107096766	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	13479370	107096766	90925664	61	5907											
KIAA2018	205717	genome.wustl.edu	37	chr3	113378632	113378632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttggtaatatgtggacaaGatgctttcctccaaaagtct	11	14	8	8	0	2	1	0	0	2	1	4	2	4	2	2	2	1	2	2	2	5	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:113378632G>A	ENST00000478658.1	-	5	1914	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.L633F			Q68DE3	K2018_HUMAN	KIAA2018	633						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATGTGGACAAGATGCTTTCCT	0.398																																																	0													173	167	169					3																	113378632		1912	4127	6039	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1897C>T	3.37:g.113378632G>A	ENSP00000420721:p.Leu633Phe		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L633F	ENST00000478658.1	37	c.1897	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319100	0.60524	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.37235	1.21;1.21	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.52757	0.1754	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.50800	-0.8785	10	0.49607	T	0.09	-14.8056	19.2112	0.93755	0.0:0.0:1.0:0.0	.	633	Q68DE3	K2018_HUMAN	F	633	ENSP00000320794:L633F;ENSP00000420721:L633F	ENSP00000320794:L633F	L	-	1	0	KIAA2018	114861322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.306000	0.78905	2.520000	0.84964	0.650000	0.86243	CTT	KIAA2018	-	NULL	ENSG00000176542		0.398	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0	56	0	G	NM_001009899		113378632	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	70.31	38	90	SNP	1.000	A	A	113378632	G	A	113378632	3	1	22	1	0	0	0	0	1	0	0	0	8295	942	33	3	4844	3	KIAA2018	3	113378632	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	6281866	113378632	84643798	62	5908											
POLQ	10721	genome.wustl.edu	37	chr3	121200659	121200659	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctagtaaccagcatgccaCctgaatgggatagcaatgag	14	8	10	9	0	1	2	0	2	1	0	1	3	1	3	3	1	4	3	3	1	5	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:121200659C>T	ENST00000264233.5	-	19	6099	c.5971G>A	c.(5971-5973)Gtg>Atg	p.V1991M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1991					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAGCATGCCACCTGAATGGGA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													71	72	72					3																	121200659		2203	4300	6503	SO:0001630	splice_region_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5971-1G>A	3.37:g.121200659C>T			O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.V1991M	ENST00000264233.5	37	c.5971	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023108	0.75275	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.24538	1.85	5.17	5.17	0.71159	Ribonuclease H-like (1);	0.136270	0.49916	D	0.000125	T	0.52885	0.1762	M	0.70275	2.135	0.38198	D	0.940098	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.58880	-0.7558	10	0.87932	D	0	.	18.8557	0.92251	0.0:1.0:0.0:0.0	.	1991;1163	O75417;O75417-2	DPOLQ_HUMAN;.	M	1614;1991;2127	ENSP00000264233:V1991M	ENSP00000264233:V1991M	V	-	1	0	POLQ	122683349	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.070000	0.50033	2.688000	0.91661	0.650000	0.86243	GTG	POLQ	-	superfamily_RNaseH-like_dom	ENSG00000051341		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1		0	14	0	C	NM_199420	Missense_Mutation	121200659	-1			no_errors	ENST00000264233	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	121200659	C	T	121200659	5	4	22	1	0	0	0	0	0	0	1	0	12247	521	18	3	1849	3	POLQ	3	121200659	Splice_Site	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	7822027	121200659	76821771	63	5909											
GOLGB1	2804	genome.wustl.edu	37	chr3	121383820	121383820	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaacagtgcctgctcctGagtgccacaggagccaatga	11	9	10	11	0	0	2	0	2	0	0	1	3	1	3	4	1	5	1	4	1	3	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:121383820G>A	ENST00000340645.5	-	21	9723	c.9598C>T	c.(9598-9600)Cag>Tag	p.Q3200*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.Q3210*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3200					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCTGCTCCTGAGTGCCACAG	0.458																																																	0													108	103	105					3																	121383820		2203	4300	6503	SO:0001587	stop_gained	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9598C>T	3.37:g.121383820G>A	ENSP00000341848:p.Gln3200*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Q3200*	ENST00000340645.5	37	c.9598	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	50	17.078678	0.99878	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.42	4.53	0.55603	.	0.211846	0.33732	N	0.004615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.8313	0.52297	0.0:0.1759:0.8241:0.0	.	.	.	.	X	3200;3210	.	ENSP00000341848:Q3200X	Q	-	1	0	GOLGB1	122866510	0.999000	0.42202	1.000000	0.80357	0.922000	0.55478	3.645000	0.54389	1.474000	0.48178	0.655000	0.94253	CAG	GOLGB1	-	NULL	ENSG00000173230		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	50	0	G	NM_004487		121383820	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	nonsense	22.12	88	25	SNP	0.996	A	A	121383820	G	A	121383820	4	1	22	1	0	0	0	0	0	1	0	0	6591	1299	45	3	189	3	GOLGB1	3	121383820	Nonsense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	183161	121383820	76638610	64	5910											
CLSTN2	64084	genome.wustl.edu	37	chr3	140282851	140282851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcatctccgtgtgcatgcTtgtgtttgtcgtggccatgg	4	15	12	10	2	2	0	1	0	1	0	4	0	2	0	2	2	2	3	2	2	0	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:140282851T>C	ENST00000458420.3	+	16	2721	c.2531T>C	c.(2530-2532)cTt>cCt	p.L844P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	844					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGTGCATGCTTGTGTTTGTC	0.537										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													286	241	256					3																	140282851		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2531T>C	3.37:g.140282851T>C	ENSP00000402460:p.Leu844Pro		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L844P	ENST00000458420.3	37	c.2531	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084037	0.55861	.	.	ENSG00000158258	ENST00000458420	T	0.48836	0.8	5.62	5.62	0.85841	.	0.068330	0.64402	D	0.000011	T	0.70378	0.3217	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74160	-0.3755	9	.	.	.	-18.7806	13.7717	0.63029	0.0:0.0:0.0:1.0	.	844	Q9H4D0	CSTN2_HUMAN	P	844	ENSP00000402460:L844P	.	L	+	2	0	CLSTN2	141765541	1.000000	0.71417	0.925000	0.36789	0.004000	0.04260	8.040000	0.89188	2.138000	0.66242	0.528000	0.53228	CTT	CLSTN2	-	NULL	ENSG00000158258		0.537	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0	82	0	T	NM_022131		140282851	1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	28.00	90	35	SNP	0.998	C	C	140282851	T	C	140282851	3	2	22	1	0	0	0	0	1	0	0	0	3569	1609	56	4	2593	4	CLSTN2	3	140282851	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	18899031	140282851	57739579	65	5911											
SR140	23350	genome.wustl.edu	37	chr3	142747238	142747238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctataggtggaagctttattCtattctgcaggcaagtagaa	12	13	10	6	0	2	1	0	0	2	1	2	2	2	2	0	3	2	4	0	3	8	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:142747238C>T	ENST00000473835.2	+	15	1526	c.1436C>T	c.(1435-1437)tCt>tTt	p.S479F	U2SURP_ENST00000397933.2_Missense_Mutation_p.S70F|U2SURP_ENST00000493598.2_Missense_Mutation_p.S478F	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	479					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAGCTTTATTCTATTCTGCAG	0.313																																																	0													75	71	72					3																	142747238		1795	4070	5865	SO:0001583	missense	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"RNA binding motif (RRM) containing"	30855	protein-coding gene	gene with protein product	"functional spliceosome-associated protein a", "Ser/Arg-rich domain protein, 140 kDa", "U2 associated SR140 protein"					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1436C>T	3.37:g.142747238C>T	ENSP00000418563:p.Ser479Phe		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom	p.S479F	ENST00000473835.2	37	c.1436	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993049	0.74703	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.88	5.0	0.66597	SWAP/Surp (1);	0.105252	0.64402	D	0.000002	T	0.71005	0.3289	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.77702	-0.2489	10	0.87932	D	0	-14.4903	10.7203	0.46036	0.133:0.7993:0.0:0.0677	.	478;70;479	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	F	479;479;70;478;46	ENSP00000418563:S479F;ENSP00000381027:S70F;ENSP00000422011:S478F;ENSP00000417441:S46F	ENSP00000322376:S479F	S	+	2	0	U2SURP	144229928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.751000	0.68720	1.476000	0.48215	0.655000	0.94253	TCT	U2SURP	-	superfamily_Surp,smart_Surp	ENSG00000163714		0.313	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	-	0	41	0	C	NM_001080415		142747238	1	tier1	-	no_errors	ENST00000473835	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	142747238	C	T	142747238	3	4	22	1	0	0	0	0	1	0	0	0	15178	913	32	3	1494	3	SR140	3	142747238	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	2464387	142747238	55275192	66	5912											
VEPH1	79674	genome.wustl.edu	37	chr3	157188234	157188234	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgcatgcttttcaaTggactcggtctctctgatgg	5	15	11	10	1	3	1	1	1	2	0	5	2	3	2	1	4	2	2	1	4	1	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:157188234T>A	ENST00000362010.2	-	3	530	c.223A>T	c.(223-225)Att>Ttt	p.I75F	VEPH1_ENST00000494677.1_Missense_Mutation_p.I75F|VEPH1_ENST00000392833.2_Missense_Mutation_p.I75F|VEPH1_ENST00000392832.2_Missense_Mutation_p.I75F|VEPH1_ENST00000537559.1_Missense_Mutation_p.I75F|VEPH1_ENST00000468233.1_Missense_Mutation_p.I75F|VEPH1_ENST00000543418.1_Missense_Mutation_p.I75F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	75						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTTTTCAATGGACTCGGTC	0.448																																																	0													186	174	178					3																	157188234		2203	4300	6503	SO:0001583	missense	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.223A>T	3.37:g.157188234T>A	ENSP00000354919:p.Ile75Phe		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I75F	ENST00000362010.2	37	c.223	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	T	17.59	3.428291	0.62844	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.67	5.67	0.87782	.	0.056190	0.64402	D	0.000001	T	0.66015	0.2747	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.74674	0.984;0.9;0.963	T	0.70710	-0.4797	10	0.87932	D	0	11.6693	15.9204	0.79562	0.0:0.0:0.0:1.0	.	75;75;75	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	F	75	ENSP00000376578:I75F;ENSP00000354919:I75F;ENSP00000446258:I75F;ENSP00000376577:I75F	ENSP00000354919:I75F	I	-	1	0	VEPH1	158670928	1.000000	0.71417	0.921000	0.36526	0.278000	0.26855	5.857000	0.69525	2.164000	0.68074	0.533000	0.62120	ATT	VEPH1	-	superfamily_ARM-type_fold	ENSG00000197415		0.448	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	-	0	80	0	T	NM_024621		157188234	-1	tier1	-	no_errors	ENST00000362010	ensembl	human	known	74_37	missense	15.69	86	16	SNP	0.994	A	A	157188234	T	A	157188234	3	1	22	1	0	0	0	0	1	0	0	0	17203	1464	51	5	2448	5	VEPH1	3	157188234	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	14440996	157188234	40834196	67	5913											
FNDC3B	64778	genome.wustl.edu	37	chr3	172050929	172050929	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatttaacctgtactgtGaaaaatctcaaaagaagcac	17	9	8	7	0	1	2	1	1	1	1	2	4	1	3	1	1	3	2	1	1	7	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:172050929G>T	ENST00000336824.4	+	14	1704	c.1605G>T	c.(1603-1605)gtG>gtT	p.V535V	FNDC3B_ENST00000416957.1_Silent_p.V535V|FNDC3B_ENST00000415807.2_Silent_p.V535V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	535	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTGTACTGTGAAAAATCTCA	0.358																																																	0													115	122	120					3																	172050929		2203	4300	6503	SO:0001819	synonymous_variant	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1605G>T	3.37:g.172050929G>T			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V535	ENST00000336824.4	37	c.1605	CCDS3217.1	3																																																																																			FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.358	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2		0	22	0	G	NM_022763		172050929	1			no_errors	ENST00000336824	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	172050929	G	T	172050929	2	4	22	1	0	0	0	0	0	0	0	1	5992	1277	45	3		3	FNDC3B	3	172050929	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	14862695	172050929	25971501	68	5914											
CHRD	8646	genome.wustl.edu	37	chr3	184106421	184106421	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccccatgcaggctgaTgggccccggggctgccgttt	4	7	17	13	2	0	1	0	1	0	0	0	2	0	2	5	6	2	4	5	6	0	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:184106421T>C	ENST00000204604.1	+	21	2847	c.2601T>C	c.(2599-2601)gaT>gaC	p.D867D	CHRD_ENST00000348986.3_Silent_p.D827D|CHRD_ENST00000545352.1_Silent_p.D409D|CHRD_ENST00000450923.1_Silent_p.D867D|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	867					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCAGGCTGATGGGCCCCGGG	0.617																																																	0													49	58	55					3																	184106421		2203	4300	6503	SO:0001819	synonymous_variant	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2601T>C	3.37:g.184106421T>C			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.D867	ENST00000204604.1	37	c.2601	CCDS3266.1	3																																																																																			CHRD	-	pirsf_Chordin	ENSG00000090539		0.617	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0	57	0	T	NM_003741		184106421	1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	silent	26.53	72	26	SNP	1.000	C	C	184106421	T	C	184106421	2	2	22	1	0	0	0	0	0	0	0	1	3379	1461	51	4		4	CHRD	3	184106421	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	12055492	184106421	13916009	69	5915											
LDB2	9079	genome.wustl.edu	37	chr4	16900100	16900100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaggggtcatgtggtgtGctggacatcttgcctgcttt	6	14	14	7	0	2	1	1	0	1	1	2	2	2	2	1	4	3	2	1	4	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:16900100G>T	ENST00000304523.5	-	1	332	c.9C>A	c.(7-9)agC>agA	p.S3R	LDB2_ENST00000502640.1_Missense_Mutation_p.S3R|LDB2_ENST00000515064.1_Missense_Mutation_p.S3R|LDB2_ENST00000441778.2_Missense_Mutation_p.S3R	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	3					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CATGTGGTGTGCTGGACATCT	0.458																																																	0													183	159	167					4																	16900100		2203	4300	6503	SO:0001583	missense	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.9C>A	4.37:g.16900100G>T	ENSP00000306772:p.Ser3Arg		O60619|O75480	Missense_Mutation	SNP	NULL	p.S3R	ENST00000304523.5	37	c.9	CCDS3420.1	4	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120163	0.56613	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640	.	.	.	5.0	5.0	0.66597	.	0.054132	0.64402	D	0.000001	T	0.41604	0.1166	N	0.08118	0	0.80722	D	1	B;B;B;B	0.23854	0.032;0.054;0.092;0.032	B;B;B;B	0.24848	0.025;0.025;0.056;0.007	T	0.40459	-0.9562	9	0.59425	D	0.04	-16.7674	17.2739	0.87109	0.0:0.0:1.0:0.0	.	3;3;3;3	E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;LDB2_HUMAN	R	3	.	ENSP00000306772:S3R	S	-	3	2	LDB2	16509198	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.232000	0.95325	2.294000	0.77228	0.460000	0.39030	AGC	LDB2	-	NULL	ENSG00000169744		0.458	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	-	0	69	0	G			16900100	-1	tier1	-	no_errors	ENST00000304523	ensembl	human	known	74_37	missense	20.69	45	12	SNP	1.000	T	T	16900100	G	T	16900100	3	4	22	1	0	0	0	0	1	0	0	0	8724	1310	46	3	1253	3	LDB2	4	16900100	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		16900100	174254176	70	5916											
TBC1D19	55296	genome.wustl.edu	37	chr4	26673809	26673809	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtacgtattgggcaaaaaGgtaagcttttaattataaat	16	14	8	3	1	0	0	0	0	0	0	0	0	0	0	0	2	2	5	0	2	9	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:26673809G>T	ENST00000264866.4	+	10	981	c.703G>T	c.(703-705)Gtt>Ttt	p.V235F	TBC1D19_ENST00000511789.1_Splice_Site_p.V170F	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	235							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGGGCAAAAAGGTAAGCTTTT	0.284																																																	0													24	24	24					4																	26673809		2160	4254	6414	SO:0001630	splice_region_variant	0			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.703+1G>T	4.37:g.26673809G>T			B9A6M0|Q9NUX1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V235F	ENST00000264866.4	37	c.703	CCDS3439.1	4	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019913	0.75275	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789	T;T;T;T	0.59638	0.33;1.16;0.25;1.19	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.70911	0.3278	M	0.69823	2.125	0.80722	D	1	D;P;P	0.61080	0.989;0.952;0.952	P;P;P	0.55871	0.786;0.69;0.69	T	0.75883	-0.3160	10	0.87932	D	0	-19.207	17.2995	0.87178	0.0:0.0:1.0:0.0	.	170;235;235	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	F	204;235;170;170	ENSP00000427033:V204F;ENSP00000264866:V235F;ENSP00000423097:V170F;ENSP00000425569:V170F	ENSP00000264866:V235F	V	+	1	0	TBC1D19	26282907	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	6.749000	0.74883	2.336000	0.79503	0.479000	0.44913	GTT	TBC1D19	-	NULL	ENSG00000109680		0.284	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	-	0	50	0	G	NM_018317	Missense_Mutation	26673809	1	tier1	-	no_errors	ENST00000264866	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	T	T	26673809	G	T	26673809	5	4	22	1	0	0	0	0	0	0	1	0	15654	1014	35	3	741	3	TBC1D19	4	26673809	Splice_Site	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	9773709	26673809	164480467	71	5917											
ARAP2	116984	genome.wustl.edu	37	chr4	36130200	36130202	+	In_Frame_Del	DEL	CAT	CAT	-																															gagctccttagtaagcagtgCatcatcaatgtcagagagaa																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:36130200_36130202delCAT	ENST00000303965.4	-	21	4082_4084	c.3593_3595delATG	c.(3592-3597)gatgca>gca	p.D1198del		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1198	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTAAGCAGTGCATCATCAATGTC	0.384																																																	0																																										SO:0001651	inframe_deletion	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3593_3595delATG	4.37:g.36130203_36130205delCAT	ENSP00000302895:p.Asp1198del		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	In_Frame_Del	DEL	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.D1198in_frame_del	ENST00000303965.4	37	c.3595_3593	CCDS3441.1	4																																																																																			ARAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047365		0.384	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2		0	35	0	CAT	NM_015230		36130202	-1	tier1		no_errors	ENST00000303965	ensembl	human	known	74_37	in_frame_del	18.60	35	8	DEL	1.000:1.000:1.000	-	-	36130202	CAT	-	36130200	7	5	22	1	0	1	0	1	0	0	0	0	839	710	25	0	1571	0	ARAP2	4	36130200	In_Frame_Del	DEL	CAT	TCGA-IG-A4QS-01A-11D-A27G-09	9456391	36130200	155024076	72	5918											
TLR6	10333	genome.wustl.edu	37	chr4	38829336	38829336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgatggtgacgatcaGcagagttatgttgcaggata	11	9	14	7	2	1	2	1	1	0	1	1	5	1	3	1	3	2	5	1	3	2	3	rs374188544		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:38829336G>T	ENST00000381950.1	-	1	1824	c.1759C>A	c.(1759-1761)Ctg>Atg	p.L587M	TLR6_ENST00000436693.2_Missense_Mutation_p.L587M			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	587					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGACGATCAGCAGAGTTATG	0.498																																																	0													105	101	102					4																	38829336		2203	4300	6503	SO:0001583	missense	0				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1759C>A	4.37:g.38829336G>T	ENSP00000371376:p.Leu587Met		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L587M	ENST00000381950.1	37	c.1759	CCDS3446.1	4	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348724	0.24426	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.10668	2.85;2.85	4.2	2.24	0.28232	.	0.000000	0.53938	D	0.000052	T	0.31009	0.0783	M	0.86740	2.835	0.41513	D	0.988355	P	0.48694	0.914	P	0.59357	0.856	T	0.19844	-1.0293	10	0.87932	D	0	.	10.4764	0.44667	0.1967:0.0:0.8033:0.0	.	587	Q9Y2C9	TLR6_HUMAN	M	587	ENSP00000389600:L587M;ENSP00000371376:L587M	ENSP00000371376:L587M	L	-	1	2	TLR6	38505731	0.866000	0.29940	0.910000	0.35882	0.403000	0.30841	0.377000	0.20552	0.978000	0.38470	0.491000	0.48974	CTG	TLR6	-	pirsf_Toll-like_receptor	ENSG00000174130		0.498	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR6	HGNC	protein_coding	OTTHUMT00000250431.1	-	0	70	0	G			38829336	-1	tier1	-	no_errors	ENST00000381950	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.894	T	T	38829336	G	T	38829336	3	4	22	1	0	0	0	0	1	0	0	0	16002	962	34	3	635	3	TLR6	4	38829336	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	2699136	38829336	152324940	73	5919											
EPHA5	2044	genome.wustl.edu	37	chr4	66201750	66201750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgggcctgctatttcgctCtttctgccagcaatccagca	6	13	8	14	1	2	0	0	0	2	0	4	0	3	0	3	1	4	4	3	1	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:66201750C>T	ENST00000273854.3	-	16	3352	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	EPHA5_ENST00000354839.4_Missense_Mutation_p.E896K|EPHA5_ENST00000511294.1_Missense_Mutation_p.E919K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E755K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTATTTCGCTCTTTCTGCCAG	0.468										TSP Lung(17;0.13)																																							0													152	133	140					4																	66201750		2203	4299	6502	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2752G>A	4.37:g.66201750C>T	ENSP00000273854:p.Glu918Lys		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E918K	ENST00000273854.3	37	c.2752	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423335	0.83559	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.091326	0.47093	D	0.000257	T	0.58963	0.2159	N	0.17800	0.525	0.26800	N	0.969221	P;B;P;P	0.36733	0.567;0.196;0.512;0.471	B;B;B;B	0.43445	0.42;0.13;0.295;0.146	T	0.60078	-0.7333	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	897;919;896;918	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	918;755;896;919	ENSP00000273854:E918K;ENSP00000389208:E755K;ENSP00000346899:E896K;ENSP00000427638:E919K	ENSP00000273854:E918K	E	-	1	0	EPHA5	65884345	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAG	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000145242		0.468	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	34	0	C	NM_004439		66201750	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	T	T	66201750	C	T	66201750	3	4	22	1	0	0	0	0	1	0	0	0	5186	922	32	3	373	3	EPHA5	4	66201750	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	27372414	66201750	124952526	74	5920											
THAP9	79725	genome.wustl.edu	37	chr4	83840028	83840028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagttttgctaataccaGtagtaaattcaggcatttgc	12	15	7	7	0	2	0	2	0	0	0	2	0	2	0	1	1	3	5	1	1	6	9			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:83840028G>C	ENST00000302236.5	+	5	2714	c.2663G>C	c.(2662-2664)aGt>aCt	p.S888T	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	888					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTAATACCAGTAGTAAATTC	0.294																																																	0													61	68	66					4																	83840028		2150	4279	6429	SO:0001583	missense	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"THAP (C2CH-type zinc finger) domain containing"	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2663G>C	4.37:g.83840028G>C	ENSP00000305533:p.Ser888Thr		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S888T	ENST00000302236.5	37	c.2663	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.961663	0.00465	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90620	-2.7	0.149	0.149	0.14863	.	0.937914	0.08819	N	0.888988	T	0.80639	0.4661	N	0.08118	0	0.24003	N	0.996203	B	0.26041	0.14	B	0.32805	0.153	T	0.71328	-0.4626	9	0.87932	D	0	.	.	.	.	.	888	Q9H5L6	THAP9_HUMAN	T	888	ENSP00000305533:S888T	ENSP00000305533:S888T	S	+	2	0	THAP9	84059052	0.280000	0.24249	0.358000	0.25811	0.040000	0.13550	-0.485000	0.06520	0.192000	0.20272	0.195000	0.17529	AGT	THAP9	-	NULL	ENSG00000168152		0.294	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1		0	26	0	G	NM_024672		83840028	1			no_errors	ENST00000302236	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.492	C	C	83840028	G	C	83840028	3	2	22	1	0	0	0	0	1	0	0	0	15898	1029	36	5	2681	5	THAP9	4	83840028	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	17638278	83840028	107314248	75	5921											
SEC24B	10427	genome.wustl.edu	37	chr4	110433175	110433175	+	Frame_Shift_Del	DEL	C	C	-																															tcctgtcgaacgtatattaaCccctttgtatccttcattga																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:110433175delC	ENST00000265175.5	+	9	1894	c.1839delC	c.(1837-1839)aacfs	p.N613fs	SEC24B_ENST00000504968.2_Frame_Shift_Del_p.N643fs|SEC24B_ENST00000399100.2_Frame_Shift_Del_p.N578fs	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	613	Zinc finger-like.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CGTATATTAACCCCTTTGTAT	0.353																																																	0													152	142	145					4																	110433175		1868	4103	5971	SO:0001589	frameshift_variant	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1839delC	4.37:g.110433175delC	ENSP00000265175:p.Asn613fs		B7ZKM8|B7ZKN4|Q0VG08	Frame_Shift_Del	DEL	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.F615fs	ENST00000265175.5	37	c.1839	CCDS47124.1	4																																																																																			SEC24B	-	pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24	ENSG00000138802		0.353	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2		0	98	0	C			110433175	1	tier1		no_errors	ENST00000265175	ensembl	human	known	74_37	frame_shift_del	38.52	75	47	DEL	1.000	-	-	110433175	C	-	110433175	7	5	22	1	0	1	0	1	0	0	0	0	14040	506	18	0	1873	0	SEC24B	4	110433175	Frame_Shift_Del	DEL	C	TCGA-IG-A4QS-01A-11D-A27G-09	26593147	110433175	80721101	76	5922											
KIAA1109	84162	genome.wustl.edu	37	chr4	123264574	123264574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcactgtaggttcatcggGattaggcagccctcttggcc	6	11	12	12	1	3	0	2	0	1	0	4	1	3	1	2	4	1	4	2	4	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:123264574G>T	ENST00000264501.4	+	73	12735	c.12362G>T	c.(12361-12363)gGa>gTa	p.G4121V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G4121V			Q2LD37	K1109_HUMAN	KIAA1109	4121	Ser-rich.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGTTCATCGGGATTAGGCAGC	0.438																																																	0													99	88	91					4																	123264574		1931	4140	6071	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12362G>T	4.37:g.123264574G>T	ENSP00000264501:p.Gly4121Val		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.G4121V	ENST00000264501.4	37	c.12362	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.975992|3.975992	0.74360|0.74360	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.29917	.|2.54;2.54;1.55	5.88|5.88	5.03|5.03	0.67393|0.67393	.|.	.|0.144833	.|0.48767	.|D	.|0.000169	T|T	0.22282|0.22282	0.0537|0.0537	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;B	.|0.36909	.|0.573;0.1	.|B;B	.|0.33690	.|0.168;0.036	T|T	0.02144|0.02144	-1.1206|-1.1206	5|10	.|0.26408	.|T	.|0.33	.|.	17.1058|17.1058	0.86663|0.86663	0.0:0.1267:0.8733:0.0|0.0:0.1267:0.8733:0.0	.|.	.|4120;4121	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	Y|V	497|4121;4121;790	.|ENSP00000264501:G4121V;ENSP00000373390:G4121V;ENSP00000410874:G790V	.|ENSP00000264501:G4121V	D|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123484024|123484024	1.000000|1.000000	0.71417|0.71417	0.365000|0.365000	0.25901|0.25901	0.267000|0.267000	0.26476|0.26476	5.500000|5.500000	0.66943|0.66943	1.465000|1.465000	0.48006|0.48006	0.655000|0.655000	0.94253|0.94253	GAT|GGA	KIAA1109	-	NULL	ENSG00000138688		0.438	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	53	0	G	NM_020797		123264574	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.755	T	T	123264574	G	T	123264574	3	4	22	1	0	0	0	0	1	0	0	0	8235	1174	41	3	12644	3	KIAA1109	4	123264574	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	12831399	123264574	67889702	77	5923											
FAT4	79633	genome.wustl.edu	37	chr4	126336175	126336175	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctacaacttggttgttcaAgtgcatgacctgccacagat	10	13	8	10	0	2	2	1	1	1	1	2	2	2	2	2	1	4	3	2	1	3	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:126336175A>G	ENST00000394329.3	+	5	6070	c.6057A>G	c.(6055-6057)caA>caG	p.Q2019Q	FAT4_ENST00000335110.5_Silent_p.Q317Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2019	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTTGTTCAAGTGCATGACC	0.433																																																	0													157	160	159					4																	126336175		2203	4300	6503	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6057A>G	4.37:g.126336175A>G			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q2019	ENST00000394329.3	37	c.6057	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	49	0	A	NM_024582		126336175	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	35.56	28	16	SNP	0.958	G	G	126336175	A	G	126336175	2	3	22	1	0	0	0	0	0	0	0	1	5714	69	3	4		4	FAT4	4	126336175	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	3071601	126336175	64818101	78	5924											
HSPA4L	22824	genome.wustl.edu	37	chr4	128726323	128726323	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactaaattctttcttaaaGacataagtaccacattaaat	17	14	2	8	0	3	1	1	0	2	1	3	1	3	1	1	0	1	1	1	0	8	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:128726323G>C	ENST00000296464.4	+	9	1492	c.1081G>C	c.(1081-1083)Gac>Cac	p.D361H	HSPA4L_ENST00000439123.2_Missense_Mutation_p.D392H|HSPA4L_ENST00000505726.1_Missense_Mutation_p.D335H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D361H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	361					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTTCTTAAAGACATAAGTAC	0.333																																																	0													57	57	57					4																	128726323		2203	4297	6500	SO:0001583	missense	0			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"Heat shock proteins / HSP70"	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1081G>C	4.37:g.128726323G>C	ENSP00000296464:p.Asp361His		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D392H	ENST00000296464.4	37	c.1174	CCDS3734.1	4	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548251	0.65311	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01084	5.36;5.36;5.36;5.36;5.36	4.71	4.71	0.59529	.	0.051650	0.85682	D	0.000000	T	0.05044	0.0135	L	0.50847	1.595	0.80722	D	1	D;D;D	0.71674	0.966;0.998;0.998	D;D;D	0.68483	0.958;0.951;0.951	T	0.44772	-0.9306	10	0.62326	D	0.03	.	18.2081	0.89861	0.0:0.0:1.0:0.0	.	335;361;361	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	H	361;392;361;320;335	ENSP00000422482:D361H;ENSP00000393926:D392H;ENSP00000296464:D361H;ENSP00000427305:D320H;ENSP00000425645:D335H	ENSP00000296464:D361H	D	+	1	0	HSPA4L	128945773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.845000	0.92153	2.609000	0.88269	0.655000	0.94253	GAC	HSPA4L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000164070		0.333	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	HGNC	protein_coding	OTTHUMT00000257096.3	-	0	36	0	G	NM_014278		128726323	1	tier1	-	no_errors	ENST00000439123	ensembl	human	known	74_37	missense	46.43	15	13	SNP	1.000	C	C	128726323	G	C	128726323	3	2	22	1	0	0	0	0	1	0	0	0	7440	942	33	5	1115	5	HSPA4L	4	128726323	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	2390148	128726323	62427953	79	5925											
DCHS2	54798	genome.wustl.edu	37	chr4	155411241	155411241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcagagacacgggcgaCgcctccctctgtgagaaaga	10	6	12	13	3	2	3	1	1	1	3	3	6	3	3	3	1	0	0	3	1	1	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:155411241C>T	ENST00000339452.1	-	1	1627	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I	DCHS2_ENST00000443500.1_Missense_Mutation_p.V423I|DCHS2_ENST00000456341.2_Missense_Mutation_p.V416I	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1593	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACACGGGCGACGCCTCCCTCT	0.652																																																	0													3	5	4					4																	155411241		651	1513	2164	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1267G>A	4.37:g.155411241C>T	ENSP00000345062:p.Val423Ile		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V423I	ENST00000339452.1	37	c.1267	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	C	3.680	-0.065657	0.07273	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.61274	0.12;0.12;0.27	4.59	-0.332	0.12675	.	.	.	.	.	T	0.41166	0.1147	L	0.46157	1.445	0.09310	N	1	B;B	0.27679	0.1;0.185	B;B	0.22753	0.041;0.031	T	0.22452	-1.0216	9	0.20046	T	0.44	.	3.5917	0.07991	0.1074:0.5211:0.1062:0.2653	.	423;423	E9PG03;E9PC11	.;.	I	423;423;416;423	ENSP00000345062:V423I;ENSP00000408543:V416I;ENSP00000395539:V423I	ENSP00000345062:V423I	V	-	1	0	DCHS2	155630691	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.049000	0.14099	-0.750000	0.04740	-1.268000	0.01426	GTC	DCHS2	-	superfamily_Cadherin-like	ENSG00000197410		0.652	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0	31	0	C	NM_001142552		155411241	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.001	T	T	155411241	C	T	155411241	3	4	22	1	0	0	0	0	1	0	0	0	4297	536	19	1	9817	1	DCHS2	4	155411241	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	26684918	155411241	35743035	80	5926											
WDR17	116966	genome.wustl.edu	37	chr4	177046415	177046415	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagattctgaatcactttcTtgcataacaacatttaatct	13	16	4	8	0	4	2	1	1	3	1	4	2	4	2	0	0	3	2	0	0	5	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:177046415T>C	ENST00000280190.4	+	6	927	c.771T>C	c.(769-771)tcT>tcC	p.S257S	WDR17_ENST00000393643.2_Silent_p.S233S|WDR17_ENST00000508596.1_Silent_p.S233S|WDR17_ENST00000507824.2_Silent_p.S240S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	257										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AATCACTTTCTTGCATAACAA	0.433																																																	0													192	194	193					4																	177046415		2203	4300	6503	SO:0001819	synonymous_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.771T>C	4.37:g.177046415T>C			E7EQX0|Q0QD35	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S257	ENST00000280190.4	37	c.771	CCDS3825.1	4																																																																																			WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000150627		0.433	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	51	0	T			177046415	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.817	C	C	177046415	T	C	177046415	2	2	22	1	0	0	0	0	0	0	0	1	17326	1596	56	4		4	WDR17	4	177046415	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	21635174	177046415	14107861	81	5927											
WDR17	116966	genome.wustl.edu	37	chr4	177052846	177052846	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggatggtggagttggacTttatgatatgggagctaaga	10	13	15	3	0	0	2	0	1	0	1	0	6	0	6	0	5	1	2	0	5	3	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:177052846T>G	ENST00000280190.4	+	8	1283	c.1127T>G	c.(1126-1128)cTt>cGt	p.L376R	WDR17_ENST00000393643.2_Missense_Mutation_p.L352R|WDR17_ENST00000508596.1_Missense_Mutation_p.L352R|WDR17_ENST00000507824.2_Missense_Mutation_p.L359R			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	376										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGAGTTGGACTTTATGATATG	0.388																																																	0													285	277	280					4																	177052846		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1127T>G	4.37:g.177052846T>G	ENSP00000280190:p.Leu376Arg		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L376R	ENST00000280190.4	37	c.1127	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.681549|4.681549	0.88542|0.88542	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.62105	.|0.09;0.1;0.05	5.45|5.45	5.45|5.45	0.79879|0.79879	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67496|0.67496	0.2899|0.2899	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|P;D	.|0.64042	.|0.888;0.921	T|T	0.72057|0.72057	-0.4405|-0.4405	5|10	.|0.87932	.|D	.|0	-23.1148|-23.1148	15.8216|15.8216	0.78654|0.78654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|352;376	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	V|R	125|352;352;376;359	.|ENSP00000422763:L352R;ENSP00000377258:L352R;ENSP00000280190:L376R	.|ENSP00000280190:L376R	F|L	+|+	1|2	0|0	WDR17|WDR17	177289840|177289840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.438000|7.438000	0.80431|0.80431	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TTT|CTT	WDR17	-	superfamily_WD40_repeat_dom	ENSG00000150627		0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	68	0	T			177052846	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	45.45	42	35	SNP	1.000	G	G	177052846	T	G	177052846	3	3	22	1	0	0	0	0	1	0	0	0	17326	1609	56	4	1153	4	WDR17	4	177052846	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	6431	177052846	14101430	82	5928											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5239960	5239960	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaaattttcgggcactacTttcgactacagacggtccta	11	12	7	11	3	0	1	0	0	0	1	3	2	1	1	1	2	3	1	1	2	5	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:5239960T>C	ENST00000274181.7	+	16	2583	c.2445T>C	c.(2443-2445)acT>acC	p.T815T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	815	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGGCACTACTTTCGACTACA	0.512																																																	0													100	98	98					5																	5239960		1867	4099	5966	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2445T>C	5.37:g.5239960T>C			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T815	ENST00000274181.7	37	c.2445	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_ADAM_spacer1	ENSG00000145536		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	29	0	T	NM_139056		5239960	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	45.45	12	10	SNP	0.032	C	C	5239960	T	C	5239960	2	2	22	1	0	0	0	0	0	0	0	1	261	1596	56	4		4	ADAMTS16	5	5239960	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09		5239960	175675300	83	5929											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33614421	33614421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaacatcattgtcaaGgccatctttctggattgtgt	8	15	8	10	0	5	0	3	0	2	0	5	1	5	1	1	2	2	1	1	2	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:33614421G>T	ENST00000504830.1	-	16	2784	c.2449C>A	c.(2449-2451)Ctt>Att	p.L817I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L732I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	817	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCATTGTCAAGGCCATCTTTC	0.493										HNSCC(64;0.19)																																							0													227	163	185					5																	33614421		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2449C>A	5.37:g.33614421G>T	ENSP00000422554:p.Leu817Ile		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L817I	ENST00000504830.1	37	c.2449	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424549	0.25639	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59772	0.24;0.25	5.73	2.55	0.30701	.	0.766295	0.12976	N	0.423740	T	0.43433	0.1247	L	0.38175	1.15	0.48571	D	0.99967	P;B	0.38078	0.617;0.437	B;B	0.34242	0.178;0.096	T	0.19516	-1.0303	10	0.33940	T	0.23	.	9.3895	0.38363	0.3756:0.0:0.6244:0.0	.	732;817	P58397-3;P58397	.;ATS12_HUMAN	I	817;732	ENSP00000422554:L817I;ENSP00000344847:L732I	ENSP00000344847:L732I	L	-	1	0	ADAMTS12	33650178	0.001000	0.12720	1.000000	0.80357	0.935000	0.57460	-0.059000	0.11731	0.767000	0.33267	0.561000	0.74099	CTT	ADAMTS12	-	NULL	ENSG00000151388		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	50	0	G	NM_030955		33614421	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	38.10	26	16	SNP	0.689	T	T	33614421	G	T	33614421	3	4	22	1	0	0	0	0	1	0	0	0	257	1000	35	3	2371	3	ADAMTS12	5	33614421	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	28374461	33614421	147300839	84	5930											
RANBP3L	202151	genome.wustl.edu	37	chr5	36271359	36271359	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtagtcaatcttaccttaAaagtttgttctcccttttca	11	17	4	9	0	4	0	2	0	2	0	5	0	4	0	2	0	1	3	2	0	6	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:36271359A>C	ENST00000296604.3	-	2	631	c.146T>G	c.(145-147)tTt>tGt	p.F49C	RANBP3L_ENST00000502994.1_Missense_Mutation_p.F49C|RANBP3L_ENST00000515759.1_Missense_Mutation_p.F49C	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	49					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TCTTACCTTAAAAGTTTGTTC	0.328																																																	0													57	62	60					5																	36271359		2202	4298	6500	SO:0001583	missense	0			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.146T>G	5.37:g.36271359A>C	ENSP00000296604:p.Phe49Cys		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.F49C	ENST00000296604.3	37	c.146	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992830	0.54041	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	T;T;T;T	0.51071	1.74;1.76;1.75;0.72	5.4	3.04	0.35103	.	0.441828	0.23636	N	0.046071	T	0.54481	0.1861	M	0.63843	1.955	0.29949	N	0.820433	D;D	0.71674	0.998;0.997	P;P	0.58077	0.832;0.781	T	0.53107	-0.8485	10	0.40728	T	0.16	-7.8475	6.881	0.24173	0.8166:0.0:0.1834:0.0	.	49;49	E9PGP9;Q86VV4	.;RNB3L_HUMAN	C	49	ENSP00000296604:F49C;ENSP00000421853:F49C;ENSP00000421149:F49C;ENSP00000427147:F49C	ENSP00000296604:F49C	F	-	2	0	RANBP3L	36307116	1.000000	0.71417	0.977000	0.42913	0.721000	0.41392	1.948000	0.40303	0.456000	0.26937	0.482000	0.46254	TTT	RANBP3L	-	NULL	ENSG00000164188		0.328	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	-	0	39	0	A	NM_145000		36271359	-1	tier1	-	no_errors	ENST00000296604	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.998	C	C	36271359	A	C	36271359	3	2	22	1	0	0	0	0	1	0	0	0	13075	14	1	4	1382	4	RANBP3L	5	36271359	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	2656938	36271359	144643901	85	5931											
PLCXD3	345557	genome.wustl.edu	37	chr5	41381955	41381955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgtttctctgaggccaCttgccacccctttgaccaca	7	13	7	14	0	1	3	0	3	1	0	2	3	1	3	5	1	1	1	5	1	0	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:41381955C>A	ENST00000377801.3	-	2	859	c.785G>T	c.(784-786)aGt>aTt	p.S262I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S262I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	262					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGAGGCCACTTGCCACCCC	0.418																																																	0													80	84	83					5																	41381955		2203	4300	6503	SO:0001583	missense	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.785G>T	5.37:g.41381955C>A	ENSP00000367032:p.Ser262Ile		A6NL04	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.S262I	ENST00000377801.3	37	c.785	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091658	0.76756	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.036051	0.85682	D	0.000000	T	0.76702	0.4024	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.72100	-0.4392	9	0.38643	T	0.18	-11.2139	20.6593	0.99626	0.0:1.0:0.0:0.0	.	262	Q63HM9	PLCX3_HUMAN	I	262	.	ENSP00000333751:S262I	S	-	2	0	PLCXD3	41417712	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.397000	0.79903	2.885000	0.99019	0.655000	0.94253	AGT	PLCXD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182836		0.418	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	-	0	127	0	C	XM_293875		41381955	-1	tier1	-	no_errors	ENST00000328457	ensembl	human	known	74_37	missense	38.18	68	42	SNP	1.000	A	A	41381955	C	A	41381955	3	1	22	1	0	0	0	0	1	0	0	0	12082	565	20	3	188	3	PLCXD3	5	41381955	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	5110596	41381955	139533305	86	5932											
NNT	23530	genome.wustl.edu	37	chr5	43659311	43659311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattgggggtgctgacatGcccgtcgttatcactgtgct	5	13	13	10	2	1	1	1	1	0	0	2	1	1	1	1	2	3	4	1	2	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:43659311G>A	ENST00000264663.5	+	17	2714	c.2493G>A	c.(2491-2493)atG>atA	p.M831I	NNT_ENST00000512996.2_Missense_Mutation_p.M700I|NNT_ENST00000344920.4_Missense_Mutation_p.M831I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	831					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GTGCTGACATGCCCGTCGTTA	0.463																																																	0													169	161	163					5																	43659311		2203	4300	6503	SO:0001583	missense	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2493G>A	5.37:g.43659311G>A	ENSP00000264663:p.Met831Ile		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.M831I	ENST00000264663.5	37	c.2493	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.331012	0.95733	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.94000	-3.33;-3.33;-3.33	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.98111	4.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98891	1.0773	10	0.87932	D	0	-24.0459	20.3325	0.98724	0.0:0.0:1.0:0.0	.	831	Q13423	NNTM_HUMAN	I	346;831;831;700	ENSP00000264663:M831I;ENSP00000343873:M831I;ENSP00000426343:M700I	ENSP00000264663:M831I	M	+	3	0	NNT	43695068	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	ATG	NNT	-	pfam_NADH_DH_b	ENSG00000112992		0.463	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	-	0	77	0	G	NM_182977		43659311	1	tier1	-	no_errors	ENST00000264663	ensembl	human	known	74_37	missense	38.04	57	35	SNP	1.000	A	A	43659311	G	A	43659311	3	1	22	1	0	0	0	0	1	0	0	0	10549	1319	46	3	2555	3	NNT	5	43659311	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	2277356	43659311	137255949	87	5933											
HCN1	348980	genome.wustl.edu	37	chr5	45645460	45645460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgggatggatgagatgaAgtcaaccacaaaccagcttt	14	8	10	9	0	1	2	1	2	0	1	1	5	1	4	2	2	3	1	2	2	3	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:45645460A>G	ENST00000303230.4	-	2	733	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	226					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGAGATGAAGTCAACCACA	0.393																																																	0													83	76	79					5																	45645460		2203	4299	6502	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.676T>C	5.37:g.45645460A>G	ENSP00000307342:p.Phe226Leu			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.F226L	ENST00000303230.4	37	c.676	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519777	0.27211	.	.	ENSG00000164588	ENST00000303230	D	0.98849	-5.18	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.94951	0.8367	N	0.12527	0.23	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	D	0.93305	0.6680	10	0.12430	T	0.62	.	15.3658	0.74519	1.0:0.0:0.0:0.0	.	226	O60741	HCN1_HUMAN	L	226	ENSP00000307342:F226L	ENSP00000307342:F226L	F	-	1	0	HCN1	45681217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.038000	0.60285	0.454000	0.30748	TTC	HCN1	-	pfam_Ion_trans_dom	ENSG00000164588		0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	35	0	A	NM_021072		45645460	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	G	G	45645460	A	G	45645460	3	3	22	1	0	0	0	0	1	0	0	0	7023	72	3	4	2024	4	HCN1	5	45645460	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	1986149	45645460	135269800	88	5934											
FAM174A	345757	genome.wustl.edu	37	chr5	99921888	99921888	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctttttcttgcagataAgaatgtgccttttgatgaaa	10	19	7	5	0	2	4	0	2	2	2	2	4	2	4	1	0	2	1	1	0	3	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:99921888A>G	ENST00000312637.4	+	3	799	c.573A>G	c.(571-573)taA>taG	p.*191*	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	0						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTTGCAGATAAGAATGTGCCT	0.303																																																	0													41	51	47					5																	99921888		2186	4255	6441	SO:0001819	synonymous_variant	0			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"transmembrane protein 157"	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.573A>G	5.37:g.99921888A>G			A8K0H4	Silent	SNP	pfam_DUF1180	p.*191	ENST00000312637.4	37	c.573	CCDS4090.1	5																																																																																			FAM174A	-	NULL	ENSG00000174132		0.303	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	HGNC	protein_coding	OTTHUMT00000250631.2	-	0	24	0	A	NM_198507		99921888	1	tier1	-	no_errors	ENST00000312637	ensembl	human	known	74_37	silent	46.15	21	18	SNP	1.000	G	G	99921888	A	G	99921888	2	3	22	1	0	0	0	0	0	0	0	1	5514	79	3	4		4	FAM174A	5	99921888	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	54276428	99921888	80993372	89	5935											
ST8SIA4	7903	genome.wustl.edu	37	chr5	100191934	100191934	+	Frame_Shift_Del	DEL	A	A	-																															gaccatgaaagcaggaatccAaaggacactgtcattcagca																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:100191934delA	ENST00000231461.5	-	4	980	c.670delT	c.(670-672)tggfs	p.W224fs		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	224					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GCAGGAATCCAAAGGACACTG	0.423																																																	0													196	176	183					5																	100191934		2203	4300	6503	SO:0001589	frameshift_variant	0			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.670delT	5.37:g.100191934delA	ENSP00000231461:p.Trp224fs		A8KA07|G3V104|Q8N1F4|Q92693	Frame_Shift_Del	DEL	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.W224fs	ENST00000231461.5	37	c.670	CCDS4091.1	5																																																																																			ST8SIA4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000113532		0.423	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3		0	58	0	A	NM_005668		100191934	-1	tier1		no_errors	ENST00000231461	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	1.000	-	-	100191934	A	-	100191934	7	5	22	1	0	1	0	1	0	0	0	0	15281	130	5	0	417	0	ST8SIA4	5	100191934	Frame_Shift_Del	DEL	A	TCGA-IG-A4QS-01A-11D-A27G-09	270046	100191934	80723326	90	5936											
APC	324	genome.wustl.edu	37	chr5	112175663	112175663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtacctaaaaataaagcaCctactgctgaaaagagagag	20	6	8	7	0	0	3	0	1	0	2	0	4	0	3	2	0	4	3	2	0	10	4	rs386833393|rs143796828	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:112175663C>T	ENST00000457016.1	+	16	4752	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S	APC_ENST00000508376.2_Missense_Mutation_p.P1458S|APC_ENST00000257430.4_Missense_Mutation_p.P1458S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1458	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P1458fs*15(2)|p.K1454fs*3(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAATAAAGCACCTACTGCTGA	0.453		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	5	Deletion - Frameshift(3)|Unknown(1)|Complex - frameshift(1)	large_intestine(2)|thyroid(1)|soft_tissue(1)|skin(1)						C	SER/PRO,SER/PRO,SER/PRO	0,4404		0,0,2202	90	83	85		4372,4372,4318	5.3	0.1	5	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	74,74,74	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	1458/2844,1458/2844,1440/2826	112175663	2,13002	2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4372C>T	5.37:g.112175663C>T	ENSP00000413133:p.Pro1458Ser		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P1458S	ENST00000457016.1	37	c.4372	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	0.266	-0.996197	0.02145	0.0	2.33E-4	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89343	-2.5;-2.5;-2.5	6.16	5.3	0.74995	.	0.368961	0.29653	N	0.011553	T	0.76392	0.3981	N	0.14661	0.345	0.21445	N	0.999686	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60403	-0.7270	9	.	.	.	-13.2479	6.2938	0.21075	0.1336:0.6681:0.0:0.1983	.	1460;1458	Q4LE70;P25054	.;APC_HUMAN	S	1458	ENSP00000413133:P1458S;ENSP00000257430:P1458S;ENSP00000427089:P1458S	.	P	+	1	0	APC	112203562	0.000000	0.05858	0.096000	0.21009	0.043000	0.13939	-0.354000	0.07681	1.623000	0.50342	0.650000	0.86243	CCT	APC	-	NULL	ENSG00000134982		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	16	0	C	NM_000038		112175663	1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.182	T	T	112175663	C	T	112175663	3	4	22	1	0	0	0	0	1	0	0	0	763	507	18	3	4430	3	APC	5	112175663	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	11983729	112175663	68739597	91	5937											
SNCAIP	9627	genome.wustl.edu	37	chr5	121761185	121761185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagactgcctcaatgagCgcaacactgagaagttgact	14	7	11	9	1	1	5	1	3	0	3	1	7	1	5	1	0	3	2	1	0	4	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:121761185C>T	ENST00000261368.8	+	5	1403	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.R428C|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R428C|SNCAIP_ENST00000503116.2_Missense_Mutation_p.R428C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	381					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTCAATGAGCGCAACACTGA	0.483																																																	0													84	83	83					5																	121761185		2203	4300	6503	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1141C>T	5.37:g.121761185C>T	ENSP00000261368:p.Arg381Cys		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R428C	ENST00000261368.8	37	c.1282	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428841	0.62844	.	.	ENSG00000064692	ENST00000261368;ENST00000379533;ENST00000261367;ENST00000503116	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.67	4.72	0.59763	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.56396	1.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.994;0.999;0.999	T	0.80567	-0.1325	10	0.66056	D	0.02	-15.7083	16.5882	0.84745	0.2089:0.7911:0.0:0.0	.	9;428;428;381	Q9NVG1;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	C	381;428;428;428	ENSP00000261368:R381C;ENSP00000368848:R428C;ENSP00000261367:R428C;ENSP00000423199:R428C	ENSP00000261367:R428C	R	+	1	0	SNCAIP	121789084	1.000000	0.71417	0.992000	0.48379	0.669000	0.39330	1.655000	0.37345	2.677000	0.91161	0.655000	0.94253	CGC	SNCAIP	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000064692		0.483	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	-	0	21	0	C			121761185	1	tier1	-	no_errors	ENST00000379533	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.999	T	T	121761185	C	T	121761185	3	4	22	1	0	0	0	0	1	0	0	0	14886	768	27	1	1155	1	SNCAIP	5	121761185	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	9585522	121761185	59154075	92	5938											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129039996	129039996	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtaccaacccaagaaagaAgtgtgtcctctctaccagac	14	8	7	12	0	1	3	0	0	1	3	3	3	2	3	4	0	3	1	4	0	6	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:129039996A>C	ENST00000274487.4	+	21	3351	c.3206A>C	c.(3205-3207)aAg>aCg	p.K1069T	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1069	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAAGAAAGAAGTGTGTCCTC	0.458																																																	0													230	204	213					5																	129039996		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3206A>C	5.37:g.129039996A>C	ENSP00000274487:p.Lys1069Thr			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1069T	ENST00000274487.4	37	c.3206	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545791	0.45280	.	.	ENSG00000145808	ENST00000274487	T	0.18174	2.23	4.45	4.45	0.53987	.	0.155451	0.43579	D	0.000556	T	0.29620	0.0739	L	0.38175	1.15	0.44247	D	0.99709	D	0.67145	0.996	D	0.69142	0.962	T	0.01409	-1.1362	9	.	.	.	.	14.7668	0.69646	1.0:0.0:0.0:0.0	.	1069	Q8TE59	ATS19_HUMAN	T	1069	ENSP00000274487:K1069T	.	K	+	2	0	ADAMTS19	129067895	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	4.902000	0.63266	2.226000	0.72624	0.533000	0.62120	AAG	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	48	0	A	NM_133638		129039996	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.997	C	C	129039996	A	C	129039996	3	2	22	1	0	0	0	0	1	0	0	0	264	72	3	4	3288	4	ADAMTS19	5	129039996	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	7278811	129039996	51875264	93	5939											
GABRA6	2559	genome.wustl.edu	37	chr5	161117215	161117215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccaacaggtgaatacGttataatgacagtttacttc	12	14	7	8	1	1	2	0	2	1	0	3	2	2	2	1	1	3	2	1	1	6	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:161117215G>T	ENST00000274545.5	+	7	1115	c.682G>T	c.(682-684)Gtt>Ttt	p.V228F	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V218F			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	228					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V228I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGTGAATACGTTATAATGAC	0.358										TCGA Ovarian(5;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)											129	114	119					5																	161117215		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.682G>T	5.37:g.161117215G>T	ENSP00000274545:p.Val228Phe		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V228F	ENST00000274545.5	37	c.682	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938643	0.73557	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.56	4.68	0.58851	Neurotransmitter-gated ion-channel ligand-binding (3);	0.236515	0.43110	D	0.000612	D	0.84115	0.5401	M	0.71206	2.165	0.52501	D	0.999952	P	0.43231	0.801	P	0.57911	0.829	D	0.84923	0.0855	10	0.72032	D	0.01	.	10.1013	0.42507	0.1491:0.0:0.8509:0.0	.	228	Q16445	GBRA6_HUMAN	F	228;218;175;148	ENSP00000274545:V228F;ENSP00000430527:V218F;ENSP00000430212:V175F;ENSP00000427989:V148F	ENSP00000274545:V228F	V	+	1	0	GABRA6	161049793	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	3.534000	0.53568	2.607000	0.88179	0.655000	0.94253	GTT	GABRA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000145863		0.358	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0	63	0	G			161117215	1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.996	T	T	161117215	G	T	161117215	3	4	22	1	0	0	0	0	1	0	0	0	6189	1145	40	2	708	2	GABRA6	5	161117215	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	32077219	161117215	19798045	94	5940											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178552066	178552066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcattgcagtgcttggCgtgcacggagcgggtggtgt	4	10	19	8	4	1	0	1	0	0	0	1	1	1	1	0	5	4	3	0	5	0	2	rs375191740		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:178552066C>T	ENST00000251582.7	-	19	2967	c.2866G>A	c.(2866-2868)Gcc>Acc	p.A956T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	956	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTGCTTGGCGTGCACGGAG	0.692																																																	0								C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	97	99	99		2866	2.9	1	5		99	0,8600		0,0,4300	no	missense	ADAMTS2	NM_014244.4	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	956/1212	178552066	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2866G>A	5.37:g.178552066C>T	ENSP00000251582:p.Ala956Thr			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.A956T	ENST00000251582.7	37	c.2866	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655858	0.14580	4.54E-4	0.0	ENSG00000087116	ENST00000251582	T	0.60672	0.17	5.31	2.86	0.33363	.	0.208574	0.33253	N	0.005108	T	0.34687	0.0906	N	0.20807	0.61	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06625	-1.0816	10	0.12103	T	0.63	.	6.9104	0.24333	0.1328:0.0737:0.0:0.7935	.	956	O95450	ATS2_HUMAN	T	956	ENSP00000251582:A956T	ENSP00000251582:A956T	A	-	1	0	ADAMTS2	178484672	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.523000	0.35932	0.302000	0.22762	-0.294000	0.09567	GCC	ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000087116		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	64	0	C	NM_014244		178552066	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	T	T	178552066	C	T	178552066	3	4	22	1	0	0	0	0	1	0	0	0	265	768	27	1	785	1	ADAMTS2	5	178552066	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	17434851	178552066	2363194	95	5941											
MGAT1	4245	genome.wustl.edu	37	chr5	180218677	180218677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccacgtcagtgggggcGccaggtggacacggcggccc	5	4	16	16	4	1	0	1	0	0	0	2	1	2	1	4	6	0	0	4	6	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:180218677G>A	ENST00000446023.2	-	3	2045	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	MGAT1_ENST00000393340.3_Missense_Mutation_p.A432V|MGAT1_ENST00000307826.4_Missense_Mutation_p.A432V|MGAT1_ENST00000427865.2_Missense_Mutation_p.A432V|MGAT1_ENST00000333055.3_Missense_Mutation_p.A432V	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	432					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGGGGGCGCCAGGTGGAC	0.617																																																	0													38	41	40					5																	180218677		2203	4300	6503	SO:0001583	missense	0			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1295C>T	5.37:g.180218677G>A	ENSP00000404718:p.Ala432Val		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	pfam_Glyco_trans_13	p.A432V	ENST00000446023.2	37	c.1295	CCDS4458.1	5	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673727	0.47781	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	4.96	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	L	0.31294	0.92	0.80722	D	1	D	0.53312	0.959	B	0.36885	0.235	T	0.73688	-0.3904	10	0.45353	T	0.12	-20.0869	13.4714	0.61283	0.0:0.1582:0.8418:0.0	.	432	P26572	MGAT1_HUMAN	V	432;432;432;432;289;432	ENSP00000332073:A432V;ENSP00000311888:A432V;ENSP00000404718:A432V;ENSP00000377010:A432V;ENSP00000402838:A432V	ENSP00000311888:A432V	A	-	2	0	MGAT1	180151283	1.000000	0.71417	0.894000	0.35097	0.676000	0.39594	6.870000	0.75526	1.449000	0.47699	0.655000	0.94253	GCG	MGAT1	-	pfam_Glyco_trans_13	ENSG00000131446		0.617	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT1	HGNC	protein_coding	OTTHUMT00000368189.1	-	0	18	0	G	NM_001114618		180218677	-1	tier1	-	no_errors	ENST00000307826	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.998	A	A	180218677	G	A	180218677	3	1	22	1	0	0	0	0	1	0	0	0	9580	1087	38	1	46	1	MGAT1	5	180218677	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1666611	180218677	696583	96	5942											
CDSN	170679	genome.wustl.edu	37	chr6	31084612	31084612	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaggggcaccagaaccGtgctggtccaccaccaccac	10	4	9	18	1	0	1	0	0	0	1	2	1	2	1	7	3	2	2	7	3	1	0	rs566049981	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:31084612G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.H260H|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CACCAGAACCGTGCTGGTCCA	0.627													g|||	2	0.000399361	0	0	5008	,	,		15956	0		0	False		,,,				2504	0.002																0													25	26	25					6																	31084612		2197	4286	6483	SO:0001627	intron_variant	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1944G>A	6.37:g.31084612G>A			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	NULL	p.H260	ENST00000259881.9	37	c.780	CCDS34390.1	6																																																																																			CDSN	-	NULL	ENSG00000204539		0.627	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	HGNC	protein_coding	OTTHUMT00000076110.3	-	0	33	0	G	NM_014068		31084612	-1	tier1	-	no_errors	ENST00000376288	ensembl	human	known	74_37	silent	52.63	27	30	SNP	0.969	A	A	31084612	G	A	31084612	1	1	22	0	1	0	0	0	0	0	0	0	3186	1136	40	1		1	CDSN	6	31084612	Intron	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		31084612	140030455	97	5943											
C6orf27	80737	genome.wustl.edu	37	chr6	31741184	31741184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggctgggagctgctcCggtcaaaatggcccccgtgg	5	8	16	12	3	1	0	1	0	0	0	3	1	2	1	3	6	2	3	3	6	2	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:31741184C>T	ENST00000375688.4	-	6	952	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	VWA7_ENST00000447450.1_Missense_Mutation_p.R251Q|VWA7_ENST00000375686.3_Missense_Mutation_p.R251Q|VWA7_ENST00000467576.1_Intron			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	251						extracellular region (GO:0005576)											GGAGCTGCTCCGGTCAAAATG	0.587																																																	0													48	48	48					6																	31741184		2203	4298	6501	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.752G>A	6.37:g.31741184C>T	ENSP00000364840:p.Arg251Gln		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.R251Q	ENST00000375688.4	37	c.752	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	C	6.009	0.370073	0.11352	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.30448	2.77;2.54;1.53	5.92	-6.88	0.01665	.	0.909688	0.09563	N	0.785292	T	0.01353	0.0044	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31971	-0.9924	10	0.08381	T	0.77	-0.0063	2.54	0.04723	0.197:0.3622:0.1004:0.3404	.	251	Q9Y334	G7C_HUMAN	Q	251	ENSP00000364840:R251Q;ENSP00000364838:R251Q;ENSP00000390554:R251Q	ENSP00000364838:R251Q	R	-	2	0	C6orf27	31849163	0.005000	0.15991	0.472000	0.27241	0.760000	0.43138	-1.061000	0.03472	-2.115000	0.00831	-2.680000	0.00142	CGG	VWA7	-	NULL	ENSG00000204396		0.587	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	-	0	52	0	C	NM_025258		31741184	-1	tier1	-	no_errors	ENST00000375686	ensembl	human	known	74_37	missense	24.78	85	28	SNP	0.083	T	T	31741184	C	T	31741184	3	4	22	1	0	0	0	0	1	0	0	0	2369	652	23	1	1970	1	C6orf27	6	31741184	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	656572	31741184	139373883	98	5944											
TNXB	7148	genome.wustl.edu	37	chr6	32064958	32064958	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcacgcagcgcccacgGccttggcagtccccgggaca	6	4	12	19	4	0	0	0	0	0	0	1	1	1	1	5	3	2	3	5	3	0	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:32064958G>C	ENST00000479795.1	-	3	812	c.672C>G	c.(670-672)ggC>ggG	p.G224G	TNXB_ENST00000375247.2_Silent_p.G224G|TNXB_ENST00000375244.3_Silent_p.G224G			P22105	TENX_HUMAN	tenascin XB	224	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCGCCCACGGCCTTGGCAGT	0.687																																																	0													13	17	16					6																	32064958		2149	4225	6374	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.672C>G	6.37:g.32064958G>C			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G224	ENST00000479795.1	37	c.672		6																																																																																			TNXB	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000168477		0.687	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	-	0	67	0	G	NM_019105		32064958	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	26.85	79	29	SNP	0.900	C	C	32064958	G	C	32064958	2	2	22	1	0	0	0	0	0	0	0	1	16393	1190	42	5		5	TNXB	6	32064958	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	323774	32064958	139050109	99	5945											
MOCS1	4337	genome.wustl.edu	37	chr6	39880116	39880116	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccagggattttaaaGgcctgggcaggggagagtgg	10	7	19	5	0	0	1	0	0	0	1	0	4	0	3	2	7	1	1	2	7	3	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:39880116G>T	ENST00000340692.5	-	8	876	c.873C>A	c.(871-873)gcC>gcA	p.A291A	MOCS1_ENST00000373186.4_Silent_p.A291A|MOCS1_ENST00000432280.2_Silent_p.A262A|MOCS1_ENST00000373175.4_Silent_p.A262A|MOCS1_ENST00000373195.3_Silent_p.A204A|MOCS1_ENST00000425303.2_Silent_p.A291A|MOCS1_ENST00000308559.7_Silent_p.A291A|MOCS1_ENST00000373188.2_Silent_p.A291A			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	291	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGATTTTAAAGGCCTGGGCAG	0.557																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													80	80	80					6																	39880116		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.873C>A	6.37:g.39880116G>T			B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.A291	ENST00000340692.5	37	c.873		6																																																																																			MOCS1	-	pfam_Mob_synth_C,tigrfam_MoaA	ENSG00000124615		0.557	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	-	0	57	0	G	NM_005943		39880116	-1	tier1	-	no_errors	ENST00000340692	ensembl	human	known	74_37	silent	25.56	67	23	SNP	1.000	T	T	39880116	G	T	39880116	2	4	22	1	0	0	0	0	0	0	0	1	9728	987	35	3		3	MOCS1	6	39880116	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	7815158	39880116	131234951	100	5946											
TTBK1	84630	genome.wustl.edu	37	chr6	43250725	43250725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagaagaggatgaGgaagaagaagaggaggaaga	21	1	19	0	0	0	8	0	1	0	7	0	14	0	13	0	5	0	0	0	5	7	0	rs373093693|rs113160341|rs551356837	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:43250725G>T	ENST00000259750.4	+	14	2330	c.2247G>T	c.(2245-2247)gaG>gaT	p.E749D		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	749	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			aagaggatgaggaagaagaag	0.592																																																	0													18	18	18					6																	43250725		2203	4297	6500	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2247G>T	6.37:g.43250725G>T	ENSP00000259750:p.Glu749Asp		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E749D	ENST00000259750.4	37	c.2247	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	6.995	0.553695	0.13374	.	.	ENSG00000146216	ENST00000259750	T	0.10477	2.87	4.12	2.28	0.28536	.	0.095428	0.38720	N	0.001593	T	0.03348	0.0097	L	0.36672	1.1	0.50813	D	0.999892	B	0.19817	0.039	B	0.21360	0.034	T	0.22103	-1.0226	10	0.48119	T	0.1	.	8.2461	0.31689	0.2094:0.0:0.7906:0.0	.	749	Q5TCY1	TTBK1_HUMAN	D	749	ENSP00000259750:E749D	ENSP00000259750:E749D	E	+	3	2	TTBK1	43358703	0.066000	0.20996	0.265000	0.24526	0.035000	0.12851	-1.381000	0.02549	0.706000	0.31912	0.555000	0.69702	GAG	TTBK1	-	NULL	ENSG00000146216		0.592	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3		0	14	0	G			43250725	1			no_errors	ENST00000259750	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.754	T	T	43250725	G	T	43250725	3	4	22	1	0	0	0	0	1	0	0	0	16725	991	35	3	2297	3	TTBK1	6	43250725	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	3370609	43250725	127864342	101	5947											
LRRC1	55227	genome.wustl.edu	37	chr6	53660182	53660182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctggaggagctgctgcTggacgccaaccagctccgcg	7	5	15	14	3	0	0	0	0	0	0	1	4	1	3	4	3	6	4	4	3	1	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:53660182T>A	ENST00000370888.1	+	1	405	c.128T>A	c.(127-129)cTg>cAg	p.L43Q	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Missense_Mutation_p.L43Q	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	43						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAGCTGCTGCTGGACGCCAAC	0.657																																																	0													37	35	36					6																	53660182		2203	4300	6503	SO:0001583	missense	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"leucine-rich repeat-containing 1"				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.128T>A	6.37:g.53660182T>A	ENSP00000359925:p.Leu43Gln		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L43Q	ENST00000370888.1	37	c.128	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026566	0.93518	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.75821	-0.97;-0.97	4.88	4.88	0.63580	.	0.000000	0.53938	D	0.000044	D	0.90273	0.6958	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93726	0.7037	10	0.87932	D	0	.	13.3135	0.60394	0.0:0.0:0.0:1.0	.	43	Q9BTT6	LRRC1_HUMAN	Q	43	ENSP00000359925:L43Q;ENSP00000359919:L43Q	ENSP00000359919:L43Q	L	+	2	0	LRRC1	53768141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.057000	0.76669	1.805000	0.52779	0.460000	0.39030	CTG	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137269		0.657	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	-	0	53	0	T	NM_025168		53660182	1	tier1	-	no_errors	ENST00000370888	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	A	A	53660182	T	A	53660182	3	1	22	1	0	0	0	0	1	0	0	0	9001	1580	55	5	130	5	LRRC1	6	53660182	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	10409457	53660182	117454885	102	5948											
OGFRL1	79627	genome.wustl.edu	37	chr6	72011416	72011416	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagtcataacagtcaaacTtctatgcacaaaaaagccaa	18	8	4	11	0	3	0	2	0	1	0	4	0	4	0	2	0	4	1	2	0	7	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:72011416T>C	ENST00000370435.4	+	7	1154	c.1020T>C	c.(1018-1020)acT>acC	p.T340T	RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	340						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ACAGTCAAACTTCTATGCACA	0.453																																																	0													45	50	48					6																	72011416		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1020T>C	6.37:g.72011416T>C			Q2TAC1|Q8NEQ4|Q9H7B5	Silent	SNP	pfam_OGF_rcpt	p.T340	ENST00000370435.4	37	c.1020	CCDS34482.1	6																																																																																			OGFRL1	-	NULL	ENSG00000119900		0.453	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	-	0	10	0	T	NM_024576		72011416	1	tier1	-	no_errors	ENST00000370435	ensembl	human	known	74_37	silent	35.29	11	6	SNP	0.027	C	C	72011416	T	C	72011416	2	2	22	1	0	0	0	0	0	0	0	1	10883	1596	56	4		4	OGFRL1	6	72011416	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	18351234	72011416	99103651	103	5949											
FHL5	9457	genome.wustl.edu	37	chr6	97063607	97063607	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacccagaacaaggaaatcTtctgccaaaaatgtggctcc	14	8	8	11	0	2	2	0	1	2	1	3	3	3	3	3	2	2	1	3	2	5	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:97063607T>G	ENST00000326771.2	+	7	1194	c.814T>G	c.(814-816)Ttc>Gtc	p.F272V	FHL5_ENST00000541107.1_Missense_Mutation_p.F272V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	272	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CAAGGAAATCTTCTGCCAAAA	0.483																																																	0													88	84	85					6																	97063607		2203	4300	6503	SO:0001583	missense	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.814T>G	6.37:g.97063607T>G	ENSP00000326022:p.Phe272Val		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.F272V	ENST00000326771.2	37	c.814	CCDS5035.1	6	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942945	0.53079	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	D;D	0.86297	-2.1;-2.1	5.66	4.3	0.51218	Zinc finger, LIM-type (4);	0.181468	0.27168	N	0.020601	T	0.68659	0.3025	L	0.38175	1.15	0.37342	D	0.910432	B	0.13594	0.008	B	0.12156	0.007	T	0.69892	-0.5022	10	0.52906	T	0.07	.	5.2576	0.15555	0.0:0.2539:0.0:0.7461	.	272	Q5TD97	FHL5_HUMAN	V	272	ENSP00000442357:F272V;ENSP00000326022:F272V	ENSP00000326022:F272V	F	+	1	0	FHL5	97170328	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	3.163000	0.50763	2.146000	0.66826	0.533000	0.62120	TTC	FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000112214		0.483	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	-	0	12	0	T	NM_020482		97063607	1	tier1	-	no_errors	ENST00000326771	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	G	G	97063607	T	G	97063607	3	3	22	1	0	0	0	0	1	0	0	0	5903	1609	56	4	832	4	FHL5	6	97063607	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	25052191	97063607	74051460	104	5950											
C6orf167	253714	genome.wustl.edu	37	chr6	97597747	97597747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctttgtgctatattcctgCcaaggccccatttctgctct	6	15	6	14	0	2	0	0	0	2	0	3	0	3	0	5	1	3	2	5	1	3	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:97597747C>T	ENST00000275053.4	-	24	3897	c.3632G>A	c.(3631-3633)gGc>gAc	p.G1211D	MMS22L_ENST00000369251.2_Missense_Mutation_p.G1171D	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1211					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TATATTCCTGCCAAGGCCCCA	0.353																																																	0													71	68	69					6																	97597747		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3632G>A	6.37:g.97597747C>T	ENSP00000275053:p.Gly1211Asp		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1211D	ENST00000275053.4	37	c.3632	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005295	0.74932	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.40756	1.02;1.02	5.81	4.95	0.65309	.	0.050614	0.85682	D	0.000000	T	0.55689	0.1936	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63637	-0.6592	10	0.87932	D	0	-12.3481	15.1683	0.72846	0.0:0.9321:0.0:0.0679	.	1171;1211	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	D	1211;1171	ENSP00000275053:G1211D;ENSP00000358254:G1171D	ENSP00000275053:G1211D	G	-	2	0	MMS22L	97704468	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	5.677000	0.68142	1.472000	0.48140	0.655000	0.94253	GGC	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.353	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	28	0	C	NM_198468		97597747	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	T	T	97597747	C	T	97597747	3	4	22	1	0	0	0	0	1	0	0	0	2349	739	26	3	107	3	C6orf167	6	97597747	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	534140	97597747	73517320	105	5951											
SIM1	6492	genome.wustl.edu	37	chr6	100841712	100841712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggtcaagggacttccGccccactggctgtcatgatc	6	10	12	13	2	2	1	2	1	0	0	5	2	3	2	3	3	0	1	3	3	1	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:100841712G>A	ENST00000369208.3	-	11	2003	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	SIM1_ENST00000262901.4_Silent_p.G407G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	407	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G407G(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGGACTTCCGCCCCACTGGC	0.547																																																	1	Substitution - coding silent(1)	large_intestine(1)											38	37	37					6																	100841712		2203	4299	6502	SO:0001819	synonymous_variant	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1221C>T	6.37:g.100841712G>A			Q5TDP7	Silent	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.G407	ENST00000369208.3	37	c.1221	CCDS5045.1	6																																																																																			SIM1	-	pfam_SIM_C	ENSG00000112246		0.547	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3		0	31	0	G	NM_005068		100841712	-1			no_errors	ENST00000262901	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.018	A	A	100841712	G	A	100841712	2	1	22	1	0	0	0	0	0	0	0	1	14368	1074	38	1		1	SIM1	6	100841712	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	3243965	100841712	70273355	106	5952											
THEMIS	387357	genome.wustl.edu	37	chr6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaactccctcggtcgccGcttgaacttgcctttatagc	6	12	10	13	3	0	1	0	1	0	0	3	2	1	2	3	2	4	1	3	2	4	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:128134756G>A	ENST00000368248.2	-	4	1178	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W|THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000368250.1_Missense_Mutation_p.R265W	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	344	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTCGGTCGCCGCTTGAACTTG	0.468																																																	0													85	89	88					6																	128134756		2203	4300	6503	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1030C>T	6.37:g.128134756G>A	ENSP00000357231:p.Arg344Trp		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.R344W	ENST00000368248.2	37	c.1030	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304997	0.60305	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.55	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83223	2.63	0.44816	D	0.997821	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59731	-0.7399	10	0.87932	D	0	-12.3425	18.7037	0.91630	0.0:0.0:0.1846:0.8154	.	344;344	F5H1J9;Q8N1K5	.;THMS1_HUMAN	W	265;344;344;309;112	ENSP00000357233:R265W;ENSP00000439594:R344W;ENSP00000357231:R344W;ENSP00000439863:R309W;ENSP00000387740:R112W	ENSP00000357231:R344W	R	-	1	2	THEMIS	128176449	0.996000	0.38824	0.996000	0.52242	0.990000	0.78478	0.253000	0.18296	-0.097000	0.12307	0.462000	0.41574	CGG	THEMIS	-	NULL	ENSG00000172673		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		-	0	25	0	G	NM_001010923		128134756	-1	tier1	-	no_errors	ENST00000543064	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.991	A	A	128134756	G	A	128134756	3	1	22	1	0	0	0	0	1	0	0	0	15907	1086	38	1	1028	1	THEMIS	6	128134756	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	27293044	128134756	42980311	107	5953											
MYB	4602	genome.wustl.edu	37	chr6	135509008	135509008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctggtggaacagaatggaAcagatgactggaaagttatt	15	9	13	4	0	0	3	0	1	0	2	0	6	0	6	0	4	3	2	0	4	5	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:135509008A>G	ENST00000367814.4	+	3	364	c.178A>G	c.(178-180)Aca>Gca	p.T60A	MYB_ENST00000527615.1_Missense_Mutation_p.T60A|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Missense_Mutation_p.T60A|MYB_ENST00000316528.8_Missense_Mutation_p.T60A|MYB_ENST00000528774.1_Missense_Mutation_p.T60A|MYB_ENST00000533624.1_Missense_Mutation_p.T60A|MYB_ENST00000534121.1_Missense_Mutation_p.T60A|MYB_ENST00000534044.1_Missense_Mutation_p.T60A|MYB_ENST00000341911.5_Missense_Mutation_p.T60A|MYB_ENST00000442647.2_Missense_Mutation_p.T60A|MYB_ENST00000420123.2_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	60	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		ACAGAATGGAACAGATGACTG	0.323			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													88	94	92					6																	135509008		2203	4299	6502	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.178A>G	6.37:g.135509008A>G	ENSP00000356788:p.Thr60Ala		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T60A	ENST00000367814.4	37	c.178	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490248	0.44249	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T;T	0.43688	2.66;2.21;2.21;2.21;1.45;1.92;2.65;2.63;1.88;2.23;0.94	5.27	5.27	0.74061	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.214995	0.49916	D	0.000124	T	0.16300	0.0392	N	0.05259	-0.085	0.48762	D	0.999704	P;B;B;B;B;B;B;B;B	0.36535	0.557;0.039;0.074;0.002;0.005;0.013;0.007;0.011;0.173	B;B;B;B;B;B;B;B;B	0.39068	0.289;0.045;0.049;0.007;0.01;0.047;0.011;0.048;0.113	T	0.21042	-1.0257	10	0.72032	D	0.01	-3.3719	15.4836	0.75548	1.0:0.0:0.0:0.0	.	60;60;60;60;60;60;60;60;60	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	A	60;60;60;60;60;60;60;60;60;60;60;14	ENSP00000339992:T60A;ENSP00000410825:T60A;ENSP00000326328:T60A;ENSP00000356788:T60A;ENSP00000433227:T60A;ENSP00000435938:T60A;ENSP00000434723:T60A;ENSP00000432851:T60A;ENSP00000435055:T60A;ENSP00000436605:T60A;ENSP00000390460:T14A	ENSP00000237302:T60A	T	+	1	0	MYB	135550701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.815000	0.62634	2.104000	0.64026	0.528000	0.53228	ACA	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.323	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0	68	0	A			135509008	1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	18.18	99	22	SNP	1.000	G	G	135509008	A	G	135509008	3	3	22	1	0	0	0	0	1	0	0	0	10045	43	2	4	188	4	MYB	6	135509008	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	7374252	135509008	35606059	108	5954											
GRM1	2911	genome.wustl.edu	37	chr6	146350735	146350735	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagccccggcaggaaagtgTtgctggcaggagcgtcgtct	8	7	16	10	3	1	0	0	0	1	0	2	3	1	2	2	4	3	4	2	4	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:146350735T>A	ENST00000282753.1	+	1	317	c.82T>A	c.(82-84)Ttg>Atg	p.L28M	GRM1_ENST00000355289.4_Missense_Mutation_p.L28M|GRM1_ENST00000507907.1_Missense_Mutation_p.L28M|GRM1_ENST00000392299.2_Missense_Mutation_p.L28M|GRM1_ENST00000361719.2_Missense_Mutation_p.L28M|GRM1_ENST00000492807.2_Missense_Mutation_p.L28M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	28					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGGAAAGTGTTGCTGGCAGG	0.582																																																	0													100	117	111					6																	146350735		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.82T>A	6.37:g.146350735T>A	ENSP00000282753:p.Leu28Met		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.L28M	ENST00000282753.1	37	c.82	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438555	0.25900	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88664	-2.36;-2.41;-2.41;-2.36;-2.41;-2.41	5.57	-5.0	0.03001	.	0.415861	0.25006	N	0.033869	T	0.46483	0.1395	N	0.03608	-0.345	0.09310	N	1	P;B;B;P	0.36315	0.547;0.001;0.412;0.547	B;B;B;B	0.31812	0.136;0.003;0.064;0.136	T	0.62006	-0.6945	10	0.30854	T	0.27	.	5.9941	0.19483	0.2009:0.3661:0.0:0.433	.	28;28;23;28	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	M	28	ENSP00000354896:L28M;ENSP00000376119:L28M;ENSP00000424095:L28M;ENSP00000282753:L28M;ENSP00000347437:L28M;ENSP00000425599:L28M	ENSP00000282753:L28M	L	+	1	2	GRM1	146392428	0.001000	0.12720	0.022000	0.16811	0.926000	0.56050	-0.645000	0.05409	-0.464000	0.06963	0.459000	0.35465	TTG	GRM1	-	prints_GPCR_3_mtglu_rcpt_1	ENSG00000152822		0.582	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	30	0	T	NM_000838		146350735	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	57.38	26	35	SNP	0.001	A	A	146350735	T	A	146350735	3	1	22	1	0	0	0	0	1	0	0	0	6823	1722	60	5	84	5	GRM1	6	146350735	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	10841727	146350735	24764332	109	5955											
SYNE1	23345	genome.wustl.edu	37	chr6	152552615	152552615	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcttatcactacgcttacTttccacatcctgactgctga	9	14	5	13	1	2	2	1	2	1	0	4	2	4	2	2	0	3	2	2	0	3	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:152552615T>G	ENST00000367255.5	-	114	21551	c.20950A>C	c.(20950-20952)Agt>Cgt	p.S6984R	SYNE1_ENST00000448038.1_Missense_Mutation_p.S6913R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6596R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6984R|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1508R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6913R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6984					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACGCTTACTTTCCACATCC	0.393										HNSCC(10;0.0054)																																							0													158	141	147					6																	152552615		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20950A>C	6.37:g.152552615T>G	ENSP00000356224:p.Ser6984Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S6984R	ENST00000367255.5	37	c.20950	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292808	0.80914	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	T	0.52789	0.1756	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.972;0.972;0.988	T	0.51498	-0.8698	10	0.33141	T	0.24	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	6984;6984;6913	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6984;6913;6984;6913;6596;1508	ENSP00000356224:S6984R;ENSP00000396024:S6913R;ENSP00000265368:S6984R;ENSP00000390975:S6913R;ENSP00000341887:S6596R;ENSP00000349276:S1508R	ENSP00000265368:S6984R	S	-	1	0	SYNE1	152594308	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.143000	0.64826	2.299000	0.77371	0.529000	0.55759	AGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	49	0	T	NM_182961		152552615	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	48.18	57	53	SNP	1.000	G	G	152552615	T	G	152552615	3	3	22	1	0	0	0	0	1	0	0	0	15492	1609	56	4	5648	4	SYNE1	6	152552615	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	6201880	152552615	18562452	110	5956											
HDAC9	9734	genome.wustl.edu	37	chr7	18806744	18806744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataggtgatgactctcaaaAgtttttttcctcattacctt	10	18	5	8	0	2	2	2	2	1	0	4	2	3	2	2	1	1	1	2	1	5	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:18806744A>C	ENST00000432645.2	+	15	2171	c.2171A>C	c.(2170-2172)aAg>aCg	p.K724T	HDAC9_ENST00000441542.2_Missense_Mutation_p.K727T|HDAC9_ENST00000406451.4_Missense_Mutation_p.K724T|HDAC9_ENST00000401921.1_Missense_Mutation_p.K683T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	724	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GACTCTCAAAAGTTTTTTTCC	0.259																																																	0													55	53	53					7																	18806744		1792	4057	5849	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2171A>C	7.37:g.18806744A>C	ENSP00000410337:p.Lys724Thr		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.K727T	ENST00000432645.2	37	c.2180	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536472	0.65085	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.06	5.06	0.68205	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000004	T	0.68769	0.3037	L	0.47078	1.49	0.80722	D	1	B;D;D;D;D;P	0.76494	0.435;0.999;0.989;0.991;0.989;0.948	B;D;D;D;D;P	0.78314	0.058;0.991;0.969;0.982;0.969;0.684	T	0.69394	-0.5157	10	0.49607	T	0.09	-43.9099	13.8393	0.63428	1.0:0.0:0.0:0.0	.	724;683;727;724;724;702	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	T	724;683;724;727;636	ENSP00000384657:K724T;ENSP00000383912:K683T;ENSP00000410337:K724T;ENSP00000408617:K727T	ENSP00000339165:K636T	K	+	2	0	HDAC9	18773269	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.937000	0.63513	2.246000	0.74042	0.533000	0.62120	AAG	HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.259	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	61	0	A			18806744	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	C	C	18806744	A	C	18806744	3	2	22	1	0	0	0	0	1	0	0	0	7041	72	3	4	2289	4	HDAC9	7	18806744	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09		18806744	140331919	111	5957											
SNX10	29887	genome.wustl.edu	37	chr7	26400643	26400643	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggattcagaaggaggacTtctggcattcttacattgac	11	12	10	8	0	3	2	1	1	2	1	3	5	3	5	0	4	1	1	0	4	3	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:26400643T>G	ENST00000338523.4	+	3	260	c.73T>G	c.(73-75)Ttc>Gtc	p.F25V	SNX10_ENST00000396376.1_Missense_Mutation_p.F25V|SNX10_ENST00000446848.2_Missense_Mutation_p.F51V|SNX10_ENST00000409367.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	25	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GAAGGAGGACTTCTGGCATTC	0.358																																																	0													157	147	150					7																	26400643		2203	4300	6503	SO:0001583	missense	0			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"Sorting nexins"	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.73T>G	7.37:g.26400643T>G	ENSP00000343709:p.Phe25Val		E9PFH5|Q8IYT5	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F51V	ENST00000338523.4	37	c.151	CCDS5399.1	7	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454226	0.43634	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000412416;ENST00000446848;ENST00000396376	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	4.93	4.93	0.64822	Phox homologous domain (5);	0.055188	0.64402	D	0.000001	T	0.40171	0.1106	M	0.73962	2.25	0.43814	D	0.996372	P;P	0.43826	0.818;0.611	B;B	0.36959	0.237;0.171	T	0.36890	-0.9729	10	0.17369	T	0.5	.	13.4701	0.61278	0.0:0.0:0.0:1.0	.	51;25	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	V	51;25;51;51;25	ENSP00000408164:F51V;ENSP00000343709:F25V;ENSP00000395474:F51V;ENSP00000379661:F25V	ENSP00000343709:F25V	F	+	1	0	SNX10	26367168	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.166000	0.64965	1.989000	0.58080	0.528000	0.53228	TTC	SNX10	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000086300		0.358	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX10	HGNC	protein_coding	OTTHUMT00000214120.1	-	0	57	0	T			26400643	1	tier1	-	no_errors	ENST00000446848	ensembl	human	known	74_37	missense	22.22	34	10	SNP	1.000	G	G	26400643	T	G	26400643	3	3	22	1	0	0	0	0	1	0	0	0	14926	1609	56	4	79	4	SNX10	7	26400643	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	7593899	26400643	132738020	112	5958											
POU6F2	11281	genome.wustl.edu	37	chr7	39379320	39379320	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagccTcccccgtcaaccaaccagca	12	2	8	19	1	1	0	1	0	0	0	2	0	2	0	5	0	9	6	5	0	2	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:39379320T>C	ENST00000403058.1	+	6	745	c.591T>C	c.(589-591)ccT>ccC	p.P197P	POU6F2_ENST00000559001.1_Silent_p.P189P|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Silent_p.P197P	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	197	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						agcagcagcCTCCCCCGTCAA	0.667																																																	0													16	19	18					7																	39379320		2198	4290	6488	SO:0001819	synonymous_variant	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.591T>C	7.37:g.39379320T>C			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P197	ENST00000403058.1	37	c.591	CCDS34620.2	7																																																																																			POU6F2	-	NULL	ENSG00000106536		0.667	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3		0	51	0	T	NM_007252		39379320	1			no_errors	ENST00000403058	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.000	C	C	39379320	T	C	39379320	2	2	22	1	0	0	0	0	0	0	0	1	12324	1538	54	4		4	POU6F2	7	39379320	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	12978677	39379320	119759343	113	5959											
INHBA	3624	genome.wustl.edu	37	chr7	41730006	41730006	+	Frame_Shift_Del	DEL	G	G	-																															gtgcttctgctgctggaagaGgcggatggtgactttggtcc																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:41730006delG	ENST00000242208.4	-	3	769	c.523delC	c.(523-525)ctcfs	p.L175fs	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Frame_Shift_Del_p.L175fs|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	175					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCTGGAAGAGGCGGATGGTG	0.582										TSP Lung(11;0.080)																																							0													106	99	101					7																	41730006		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.523delC	7.37:g.41730006delG	ENSP00000242208:p.Leu175fs		Q14599	Frame_Shift_Del	DEL	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.L175fs	ENST00000242208.4	37	c.523	CCDS5464.1	7																																																																																			INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.582	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1		0	30	0	G			41730006	-1	tier1		no_errors	ENST00000242208	ensembl	human	known	74_37	frame_shift_del	35.94	41	23	DEL	0.999	-	-	41730006	G	-	41730006	7	5	22	1	0	1	0	1	0	0	0	0	7768	1000	35	0	761	0	INHBA	7	41730006	Frame_Shift_Del	DEL	G	TCGA-IG-A4QS-01A-11D-A27G-09	2350686	41730006	117408657	114	5960											
PCLO	27445	genome.wustl.edu	37	chr7	82583544	82583544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctaaagatacacttattTcttctggatagtctataatg	13	16	6	6	0	4	1	0	0	4	1	4	3	4	2	0	1	1	0	0	1	7	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:82583544T>C	ENST00000333891.9	-	5	7062	c.6725A>G	c.(6724-6726)gAa>gGa	p.E2242G	PCLO_ENST00000423517.2_Missense_Mutation_p.E2242G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACACTTATTTCTTCTGGATA	0.363																																																	0													60	58	59					7																	82583544		1835	4078	5913	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6725A>G	7.37:g.82583544T>C	ENSP00000334319:p.Glu2242Gly			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E2242G	ENST00000333891.9	37	c.6725	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	7.605	0.673678	0.14841	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.24	5.04	5.04	0.67666	.	.	.	.	.	T	0.13500	0.0327	L	0.36672	1.1	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.24701	0.055;0.055	T	0.04454	-1.0950	9	0.87932	D	0	.	9.2449	0.37520	0.0:0.0824:0.0:0.9176	.	2242;2242	Q9Y6V0-5;Q9Y6V0-6	.;.	G	2173;2242;2242	ENSP00000334319:E2242G;ENSP00000388393:E2242G	ENSP00000334319:E2242G	E	-	2	0	PCLO	82421480	0.995000	0.38212	0.998000	0.56505	0.931000	0.56810	2.433000	0.44793	2.199000	0.70637	0.528000	0.53228	GAA	PCLO	-	NULL	ENSG00000186472		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	30	0	T	NM_014510		82583544	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.996	C	C	82583544	T	C	82583544	3	2	22	1	0	0	0	0	1	0	0	0	11622	1783	62	4	8804	4	PCLO	7	82583544	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	40853538	82583544	76555119	115	5961											
PCLO	27445	genome.wustl.edu	37	chr7	82764562	82764562	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgttgttgctgatgatgaAgatacaaggtcagtggttgg	9	15	14	3	0	1	4	1	3	0	1	1	4	1	4	0	3	2	4	0	3	3	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:82764562A>G	ENST00000333891.9	-	3	2641	c.2304T>C	c.(2302-2304)tcT>tcC	p.S768S	PCLO_ENST00000423517.2_Silent_p.S768S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATGATGAAGATACAAGGT	0.458																																																	0													201	182	188					7																	82764562		1915	4133	6048	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2304T>C	7.37:g.82764562A>G				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S768	ENST00000333891.9	37	c.2304	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	62	0	A	NM_014510		82764562	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	40.35	34	23	SNP	0.002	G	G	82764562	A	G	82764562	2	3	22	1	0	0	0	0	0	0	0	1	11622	59	3	4		4	PCLO	7	82764562	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	181018	82764562	76374101	116	5962											
PCLO	27445	genome.wustl.edu	37	chr7	82784486	82784486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgagccaggctgttgagGtgggggctttgctgggccag	4	10	19	8	0	0	2	0	2	0	0	0	2	0	2	2	5	3	5	2	5	0	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:82784486G>T	ENST00000333891.9	-	2	1808	c.1471C>A	c.(1471-1473)Cct>Act	p.P491T	PCLO_ENST00000423517.2_Missense_Mutation_p.P491T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTGTTGAGGTGGGGGCTTT	0.607																																																	0													78	87	84					7																	82784486		1945	4128	6073	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1471C>A	7.37:g.82784486G>T	ENSP00000334319:p.Pro491Thr			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P491T	ENST00000333891.9	37	c.1471	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	0.386	-0.926218	0.02377	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.43	4.81	-9.62	0.00547	.	.	.	.	.	T	0.09642	0.0237	L	0.37630	1.12	0.27997	N	0.935438	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36648	-0.9739	9	0.87932	D	0	.	3.9496	0.09363	0.1996:0.454:0.1901:0.1563	.	491;491	Q9Y6V0-5;Q9Y6V0-6	.;.	T	491	ENSP00000334319:P491T;ENSP00000388393:P491T	ENSP00000334319:P491T	P	-	1	0	PCLO	82622422	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.861000	0.04268	-2.036000	0.00922	-0.367000	0.07326	CCT	PCLO	-	NULL	ENSG00000186472		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	26	0	G	NM_014510		82784486	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.000	T	T	82784486	G	T	82784486	3	4	22	1	0	0	0	0	1	0	0	0	11622	1261	44	3	14070	3	PCLO	7	82784486	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	19924	82784486	76354177	117	5963											
TAS2R16	50833	genome.wustl.edu	37	chr7	122635132	122635132	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacaggatgaaaggaataAccaatgcaactgtatgagcc	17	6	11	7	0	0	2	0	2	0	0	0	5	0	5	2	3	5	2	2	3	7	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:122635132A>C	ENST00000249284.2	-	1	622	c.557T>G	c.(556-558)gTt>gGt	p.V186G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	186					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAGGAATAACCAATGCAAC	0.438																																																	0													161	140	147					7																	122635132		2203	4300	6503	SO:0001583	missense	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.557T>G	7.37:g.122635132A>C	ENSP00000249284:p.Val186Gly		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V186G	ENST00000249284.2	37	c.557	CCDS5785.1	7	.	.	.	.	.	.	.	.	.	.	A	3.348	-0.133209	0.06711	.	.	ENSG00000128519	ENST00000249284	T	0.39229	1.09	4.0	-2.86	0.05717	.	3.371770	0.01324	N	0.011038	T	0.24122	0.0584	N	0.11064	0.09	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.22906	-1.0203	10	0.56958	D	0.05	.	4.9307	0.13916	0.2858:0.3891:0.3252:0.0	.	186	Q9NYV7	T2R16_HUMAN	G	186	ENSP00000249284:V186G	ENSP00000249284:V186G	V	-	2	0	TAS2R16	122422368	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.274000	0.08537	-0.624000	0.05611	-0.331000	0.08364	GTT	TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.438	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	-	0	48	0	A	NM_016945		122635132	-1	tier1	-	no_errors	ENST00000249284	ensembl	human	known	74_37	missense	28.81	42	17	SNP	0.000	C	C	122635132	A	C	122635132	3	2	22	1	0	0	0	0	1	0	0	0	15616	43	2	4	322	4	TAS2R16	7	122635132	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	39850646	122635132	36503531	118	5964											
KCNH2	3757	genome.wustl.edu	37	chr7	150648207	150648207	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagatgctagcatacatgagGgctgggggcgtgggcacgtg	9	7	18	7	2	0	2	0	1	0	1	0	2	0	2	0	4	3	4	0	4	3	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:150648207G>A	ENST00000262186.5	-	8	2348	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	KCNH2_ENST00000330883.4_Splice_Site_p.S309S|KCNH2_ENST00000430723.3_Splice_Site_p.S649S|KCNH2_ENST00000392968.2_Splice_Site_p.S553S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	649					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CATACATGAGGGCTGGGGGCG	0.667																																					GBM(137;110 1844 13671 20123 45161)												0													40	38	39					7																	150648207		2203	4300	6503	SO:0001630	splice_region_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1946-1C>T	7.37:g.150648207G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S649	ENST00000262186.5	37	c.1947	CCDS5910.1	7																																																																																			KCNH2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom	ENSG00000055118		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0	22	0	G	NM_000238	Silent	150648207	-1	tier1	-	no_errors	ENST00000262186	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.994	A	A	150648207	G	A	150648207	5	1	22	1	0	0	0	0	0	0	1	0	8059	1246	43	3	1833	3	KCNH2	7	150648207	Splice_Site	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	28013075	150648207	8490456	119	5965											
CSMD1	64478	genome.wustl.edu	37	chr8	2966186	2966186	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtggaacttgagcaggacTtggttggtggagctatacgc	8	11	15	7	1	0	1	0	1	0	0	0	4	0	4	0	5	4	3	0	5	3	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:2966186T>G	ENST00000520002.1	-	45	7251	c.6696A>C	c.(6694-6696)caA>caC	p.Q2232H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2231H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2231H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2232H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2232H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2232H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2232	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGCAGGACTTGGTTGGTGG	0.488																																																	0													91	90	90					8																	2966186		1939	4141	6080	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6696A>C	8.37:g.2966186T>G	ENSP00000430733:p.Gln2232His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q2232H	ENST00000520002.1	37	c.6696		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.267|9.267	1.044586|1.044586	0.19748|0.19748	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.19532|.	2.14;2.14;2.14;2.14|.	4.95|4.95	-4.85|-4.85	0.03142|0.03142	CUB (5);|.	0.146288|.	0.46442|.	D|.	0.000300|.	T|T	0.38692|0.38692	0.1050|0.1050	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	D;B;B|.	0.67145|.	0.996;0.01;0.007|.	D;B;B|.	0.80764|.	0.994;0.072;0.017|.	T|T	0.35871|0.35871	-0.9771|-0.9771	10|5	0.72032|.	D|.	0.01|.	.|.	2.7448|2.7448	0.05263|0.05263	0.1053:0.2832:0.1196:0.4918|0.1053:0.2832:0.1196:0.4918	.|.	2232;2232;2231|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	H|R	2232;2232;2093;2231;2231|1712	ENSP00000383047:Q2232H;ENSP00000430733:Q2232H;ENSP00000441462:Q2231H;ENSP00000446243:Q2231H|.	ENSP00000320445:Q2093H|.	Q|S	-|-	3|1	2|0	CSMD1|CSMD1	2953593|2953593	0.243000|0.243000	0.23878|0.23878	0.291000|0.291000	0.24904|0.24904	0.026000|0.026000	0.11368|0.11368	-0.422000|-0.422000	0.07043|0.07043	-1.066000|-1.066000	0.03164|0.03164	-0.484000|-0.484000	0.04775|0.04775	CAA|AGT	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	44	0	T	NM_033225		2966186	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.914	G	G	2966186	T	G	2966186	3	3	22	1	0	0	0	0	1	0	0	0	3953	1606	56	4	4109	4	CSMD1	8	2966186	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09		2966186	143397836	120	5966											
MSR1	4481	genome.wustl.edu	37	chr8	16026304	16026304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtcatttccttttcccGtgagactttgagttatatca	7	17	7	10	2	2	2	2	2	0	1	4	3	4	2	2	0	0	2	2	0	2	6	rs569058358		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:16026304G>A	ENST00000262101.5	-	4	414	c.293C>T	c.(292-294)aCg>aTg	p.T98M	MSR1_ENST00000355282.2_Missense_Mutation_p.T98M|MSR1_ENST00000381998.4_Missense_Mutation_p.T98M|MSR1_ENST00000350896.3_Missense_Mutation_p.T98M|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.T116M			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	98	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCTTTTCCCGTGAGACTTTG	0.363																																																	0													196	182	186					8																	16026304		2203	4300	6503	SO:0001583	missense	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.293C>T	8.37:g.16026304G>A	ENSP00000262101:p.Thr98Met		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.T98M	ENST00000262101.5	37	c.293	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.140809	0.01728	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.90004	-0.58;-2.02;-0.58;-0.58;-2.6	4.68	-9.37	0.00626	.	3.888950	0.00465	N	0.000104	T	0.77638	0.4160	N	0.20685	0.6	0.18873	N	0.999986	B;B;B;B	0.14438	0.01;0.004;0.007;0.002	B;B;B;B	0.12837	0.002;0.005;0.008;0.002	T	0.66264	-0.5967	10	0.29301	T	0.29	.	7.7418	0.28845	0.5975:0.0:0.2214:0.181	.	116;98;98;98	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	M	98;98;116;98;98	ENSP00000262100:T98M;ENSP00000262101:T98M;ENSP00000405453:T116M;ENSP00000347430:T98M;ENSP00000371428:T98M	ENSP00000262101:T98M	T	-	2	0	MSR1	16070675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.495000	0.02294	-2.510000	0.00504	-0.917000	0.02746	ACG	MSR1	-	NULL	ENSG00000038945		0.363	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	-	0	61	0	G			16026304	-1	tier1	-	no_errors	ENST00000262101	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.000	A	A	16026304	G	A	16026304	3	1	22	1	0	0	0	0	1	0	0	0	9924	1145	40	1	1138	1	MSR1	8	16026304	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	13060118	16026304	130337718	121	5967											
NRG1	3084	genome.wustl.edu	37	chr8	32453467	32453467	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaagtggttcaagaatggGaatgaattgaatcgaaaaaa	18	10	10	3	1	2	3	2	2	0	1	3	5	2	4	0	2	0	1	0	2	9	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:32453467G>T	ENST00000405005.3	+	2	222	c.222G>T	c.(220-222)ggG>ggT	p.G74G	NRG1_ENST00000338921.4_Silent_p.G74G|NRG1_ENST00000341377.5_Silent_p.G74G|NRG1_ENST00000287845.5_Silent_p.G74G|NRG1_ENST00000521670.1_Silent_p.G74G|NRG1_ENST00000520407.1_Silent_p.G289G|NRG1_ENST00000519301.1_Silent_p.G53G|NRG1_ENST00000287842.3_Silent_p.G74G|NRG1_ENST00000356819.4_Silent_p.G74G|NRG1_ENST00000523079.1_Silent_p.G74G			Q02297	NRG1_HUMAN	neuregulin 1	74	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCAAGAATGGGAATGAATTGA	0.393																																																	0													113	124	120					8																	32453467		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.222G>T	8.37:g.32453467G>T			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.G74	ENST00000405005.3	37	c.222	CCDS6085.1	8																																																																																			NRG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000157168		0.393	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1		0	23	0	G			32453467	1			no_errors	ENST00000338921	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.996	T	T	32453467	G	T	32453467	2	4	22	1	0	0	0	0	0	0	0	1	10686	1175	41	3		3	NRG1	8	32453467	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	16427163	32453467	113910555	122	5968											
ZNF703	80139	genome.wustl.edu	37	chr8	37556150	37556150	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcgccatacgcgctgtaTggacagagactagcttcagc	10	10	10	11	3	1	1	1	0	0	1	2	3	1	2	1	1	3	3	1	1	4	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:37556150T>G	ENST00000331569.4	+	2	1960	c.1731T>G	c.(1729-1731)taT>taG	p.Y577*		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	577					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			ACGCGCTGTATGGACAGAGAC	0.637																																																	0													36	32	33					8																	37556150		2203	4300	6503	SO:0001587	stop_gained	0			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1731T>G	8.37:g.37556150T>G	ENSP00000332325:p.Tyr577*		Q5XG76	Nonsense_Mutation	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.Y577*	ENST00000331569.4	37	c.1731	CCDS6094.1	8	.	.	.	.	.	.	.	.	.	.	T	37	6.610498	0.97705	.	.	ENSG00000183779	ENST00000331569;ENST00000397235	.	.	.	3.22	-0.329	0.12686	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1078	9.4866	0.38933	0.0:0.3336:0.0:0.6664	.	.	.	.	X	577;150	.	ENSP00000332325:Y577X	Y	+	3	2	ZNF703	37675308	0.870000	0.30015	0.997000	0.53966	0.892000	0.51952	-0.039000	0.12124	-0.220000	0.09988	0.254000	0.18369	TAT	ZNF703	-	NULL	ENSG00000183779		0.637	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	-	0	33	0	T	NM_025069		37556150	1	tier1	-	no_errors	ENST00000331569	ensembl	human	known	74_37	nonsense	29.79	33	14	SNP	0.997	G	G	37556150	T	G	37556150	4	3	22	1	0	0	0	0	0	1	0	0	18154	1471	51	4	1737	4	ZNF703	8	37556150	Nonsense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	5102683	37556150	108807872	123	5969											
EFCAB1	79645	genome.wustl.edu	37	chr8	49644049	49644049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctttataagacagttcacTtcaaatttattaactgaaat	16	15	4	6	0	2	2	2	1	0	1	2	2	2	2	0	0	2	2	0	0	6	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:49644049T>G	ENST00000262103.3	-	2	152	c.72A>C	c.(70-72)gaA>gaC	p.E24D	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	24							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				GACAGTTCACTTCAAATTTAT	0.318																																																	0																																										SO:0001583	missense	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.72A>C	8.37:g.49644049T>G	ENSP00000262103:p.Glu24Asp		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E24D	ENST00000262103.3	37	c.72	CCDS6145.1	8	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653348	0.67472	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	T	0.72167	-0.63	4.77	3.57	0.40892	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	M	0.84683	2.71	0.52099	D	0.999948	D	0.89917	1.0	D	0.83275	0.996	D	0.83762	0.0215	10	0.87932	D	0	.	9.0786	0.36538	0.0:0.0898:0.0:0.9102	.	24	Q9HAE3	EFCB1_HUMAN	D	24	ENSP00000262103:E24D	ENSP00000262103:E24D	E	-	3	2	EFCAB1	49806602	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.809000	0.27168	0.904000	0.36572	0.528000	0.53228	GAA	EFCAB1	-	NULL	ENSG00000034239		0.318	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	-	0	35	0	T	NM_024593		49644049	-1	tier1	-	no_errors	ENST00000262103	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	G	G	49644049	T	G	49644049	3	3	22	1	0	0	0	0	1	0	0	0	4947	1606	56	4	583	4	EFCAB1	8	49644049	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	12087899	49644049	96719973	124	5970											
XKR4	114786	genome.wustl.edu	37	chr8	56015128	56015128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgcagaactcggaccActcgggctcggtgcagggat	7	6	14	14	4	0	1	0	0	0	1	3	3	0	3	2	4	3	4	2	4	1	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:56015128A>G	ENST00000327381.6	+	1	180	c.80A>G	c.(79-81)cAc>cGc	p.H27R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	27						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AACTCGGACCACTCGGGCTCG	0.687																																																	0													26	27	27					8																	56015128		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.80A>G	8.37:g.56015128A>G	ENSP00000328326:p.His27Arg		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.H27R	ENST00000327381.6	37	c.80	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070562	0.36566	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83837	-1.77	2.83	2.83	0.33086	.	1.349760	0.06062	U	0.658472	T	0.66819	0.2828	N	0.19112	0.55	0.26965	N	0.96573	P	0.43633	0.813	B	0.24394	0.053	T	0.60296	-0.7291	10	0.49607	T	0.09	-8.5456	8.841	0.35142	1.0:0.0:0.0:0.0	.	27	Q5GH76	XKR4_HUMAN	R	27	ENSP00000328326:H27R	ENSP00000328326:H27R	H	+	2	0	XKR4	56177682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.185000	0.58330	1.177000	0.42855	0.449000	0.29647	CAC	XKR4	-	NULL	ENSG00000206579		0.687	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	21	0	A	NM_052898		56015128	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G	G	56015128	A	G	56015128	3	3	22	1	0	0	0	0	1	0	0	0	17482	159	6	4	82	4	XKR4	8	56015128	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	6371079	56015128	90348894	125	5971											
CYP7B1	9420	genome.wustl.edu	37	chr8	65527677	65527677	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgcagcaaacggtcaatTtcgtcacgcactgctgccat	10	9	9	13	3	2	0	2	0	0	0	3	1	2	0	1	1	5	4	1	1	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:65527677T>G	ENST00000310193.3	-	4	1136	c.963A>C	c.(961-963)gaA>gaC	p.E321D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	321					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AACGGTCAATTTCGTCACGCA	0.483																																																	0													108	100	103					8																	65527677		2203	4300	6503	SO:0001583	missense	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.963A>C	8.37:g.65527677T>G	ENSP00000310721:p.Glu321Asp		B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.E321D	ENST00000310193.3	37	c.963	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414507	0.62511	.	.	ENSG00000172817	ENST00000310193	D	0.95069	-3.6	5.93	5.93	0.95920	.	0.043020	0.85682	D	0.000000	D	0.97096	0.9051	M	0.85099	2.735	0.41827	D	0.990057	D	0.89917	1.0	D	0.85130	0.997	D	0.97588	1.0115	10	0.72032	D	0.01	-31.7073	10.977	0.47472	0.0:0.0774:0.0:0.9226	.	321	O75881	CP7B1_HUMAN	D	321	ENSP00000310721:E321D	ENSP00000310721:E321D	E	-	3	2	CYP7B1	65690231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.477000	0.45180	2.281000	0.76405	0.533000	0.62120	GAA	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000172817		0.483	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	-	0	56	0	T			65527677	-1	tier1	-	no_errors	ENST00000310193	ensembl	human	known	74_37	missense	15.38	99	18	SNP	1.000	G	G	65527677	T	G	65527677	3	3	22	1	0	0	0	0	1	0	0	0	4206	1838	64	4	569	4	CYP7B1	8	65527677	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	9512549	65527677	80836345	126	5972											
PREX2	80243	genome.wustl.edu	37	chr8	68972921	68972921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcttgcagcgaatttGtgtcatggctgttggaaatt	7	17	10	7	1	2	0	1	0	1	0	3	2	2	1	0	2	2	3	0	2	2	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:68972921G>C	ENST00000288368.4	+	11	1523	c.1246G>C	c.(1246-1248)Gtg>Ctg	p.V416L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	416	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCGAATTTGTGTCATGGCT	0.408																																																	0													92	91	92					8																	68972921		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1246G>C	8.37:g.68972921G>C	ENSP00000288368:p.Val416Leu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V416L	ENST00000288368.4	37	c.1246	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.314365	0.95655	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.34275	1.37	5.69	5.69	0.88448	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.90369	3.11	0.80722	D	1	D;D;D	0.62365	0.972;0.991;0.988	P;D;D	0.70935	0.891;0.971;0.95	T	0.75147	-0.3420	10	0.87932	D	0	.	19.817	0.96573	0.0:0.0:1.0:0.0	.	416;416;416	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	L	416	ENSP00000288368:V416L	ENSP00000288368:V416L	V	+	1	0	PREX2	69135475	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.678000	0.91216	0.655000	0.94253	GTG	PREX2	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000046889		0.408	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	38	0	G	NM_025170		68972921	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	11.86	52	7	SNP	1.000	C	C	68972921	G	C	68972921	3	2	22	1	0	0	0	0	1	0	0	0	12519	1377	48	5	1288	5	PREX2	8	68972921	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	3445244	68972921	77391101	127	5973											
ZFHX4	79776	genome.wustl.edu	37	chr8	77690559	77690559	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacatgtccgttcggtgaAgcatcagcagactgagggcc	11	7	12	11	2	1	3	1	2	0	1	3	3	2	3	2	2	3	3	2	2	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:77690559A>C	ENST00000521891.2	+	4	3657	c.3209A>C	c.(3208-3210)aAg>aCg	p.K1070T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1044T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1044T|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1044T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1044					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CGTTCGGTGAAGCATCAGCAG	0.512										HNSCC(33;0.089)																																							0													151	161	157					8																	77690559		2067	4206	6273	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3209A>C	8.37:g.77690559A>C	ENSP00000430497:p.Lys1070Thr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.K1070T	ENST00000521891.2	37	c.3209	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014155	0.35511	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.46758	U	0.000279	T	0.65790	0.2725	M	0.62723	1.935	0.58432	D	0.999997	D;D;D	0.67145	0.993;0.976;0.996	P;P;P	0.58721	0.703;0.674;0.844	T	0.68435	-0.5409	10	0.56958	D	0.05	.	15.5609	0.76244	1.0:0.0:0.0:0.0	.	1044;1044;1070	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	1070;1070;1044;1044;1044	ENSP00000430497:K1070T;ENSP00000399605:K1044T;ENSP00000050961:K1044T;ENSP00000430848:K1044T	ENSP00000050961:K1044T	K	+	2	0	ZFHX4	77853114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.995000	0.70631	2.320000	0.78422	0.528000	0.53228	AAG	ZFHX4	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	48	0	A	NM_024721		77690559	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	16.87	69	14	SNP	1.000	C	C	77690559	A	C	77690559	3	2	22	1	0	0	0	0	1	0	0	0	17683	72	3	4	3219	4	ZFHX4	8	77690559	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	8717638	77690559	68673463	128	5974											
CNBD1	168975	genome.wustl.edu	37	chr8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgtttatatggggaaacTtaaggagaaggagtcctttg	12	13	12	4	0	0	1	0	0	0	1	1	4	1	3	1	4	1	1	1	4	5	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:88365898T>G	ENST00000518476.1	+	10	1238	c.1187T>G	c.(1186-1188)cTt>cGt	p.L396R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396								p.L396R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATGGGGAAACTTAAGGAGAAG	0.323																																																	1	Substitution - Missense(1)	large_intestine(1)											84	81	82					8																	88365898		1814	4073	5887	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1187T>G	8.37:g.88365898T>G	ENSP00000430073:p.Leu396Arg			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L396R	ENST00000518476.1	37	c.1187	CCDS55259.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.20|12.20	1.865846|1.865846	0.32977|0.32977	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	D|D;D	0.94966|0.94046	-3.57|-3.34;-3.34	4.98|4.98	4.98|4.98	0.66077|0.66077	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|0.000000	0.42964|0.42964	D|D	0.000627|0.000627	D|D	0.93884|0.93884	0.8043|0.8043	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	D|D	0.89347|0.89347	0.3658|0.3658	10|8	0.87932|0.72032	D|D	0|0.01	-15.9692|-15.9692	11.1056|11.1056	0.48201|0.48201	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	396|.	Q8NA66|.	CNBD1_HUMAN|.	R|V	396|88;33	ENSP00000430073:L396R|ENSP00000430986:L88V;ENSP00000427742:L33V	ENSP00000430073:L396R|ENSP00000427742:L33V	L|L	+|+	2|1	0|2	CNBD1|CNBD1	88435014|88435014	0.353000|0.353000	0.24904|0.24904	0.063000|0.063000	0.19743|0.19743	0.162000|0.162000	0.22319|0.22319	3.947000|3.947000	0.56652|0.56652	1.880000|1.880000	0.54463|0.54463	0.454000|0.454000	0.30748|0.30748	CTT|TTA	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	-	0	53	0	T	NM_173538		88365898	1	tier1	-	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	14.29	114	19	SNP	0.229	G	G	88365898	T	G	88365898	3	3	22	1	0	0	0	0	1	0	0	0	3598	1609	56	4	1225	4	CNBD1	8	88365898	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	10675339	88365898	57998124	129	5975											
OSGIN2	734	genome.wustl.edu	37	chr8	90937464	90937464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatatttaagctgtctGcagcagtagtattgataggt	14	13	10	4	0	1	2	0	1	1	1	1	2	1	2	0	1	3	5	0	1	7	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:90937464G>T	ENST00000297438.2	+	6	1577	c.1222G>T	c.(1222-1224)Gca>Tca	p.A408S	OSGIN2_ENST00000451899.2_Missense_Mutation_p.A452S	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	408					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TAAGCTGTCTGCAGCAGTAGT	0.428																																																	0													100	102	102					8																	90937464		2203	4300	6503	SO:0001583	missense	0			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"chromosome 8 open reading frame 1"	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1222G>T	8.37:g.90937464G>T	ENSP00000297438:p.Ala408Ser			Missense_Mutation	SNP	NULL	p.A452S	ENST00000297438.2	37	c.1354	CCDS6248.1	8	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297789	0.23650	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.29655	1.56;1.56	5.79	5.79	0.91817	.	0.268758	0.44097	D	0.000484	T	0.22244	0.0536	L	0.27053	0.805	0.80722	D	1	B;B	0.19583	0.037;0.012	B;B	0.17979	0.02;0.009	T	0.05115	-1.0905	10	0.23302	T	0.38	-17.8295	13.2683	0.60146	0.0723:0.0:0.9276:0.0	.	452;408	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	S	408;452	ENSP00000297438:A408S;ENSP00000396445:A452S	ENSP00000297438:A408S	A	+	1	0	OSGIN2	91006639	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.290000	0.51755	2.750000	0.94351	0.563000	0.77884	GCA	OSGIN2	-	NULL	ENSG00000164823		0.428	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	-	0	27	0	G	NM_004337		90937464	1	tier1	-	no_errors	ENST00000451899	ensembl	human	known	74_37	missense	46.67	40	35	SNP	1.000	T	T	90937464	G	T	90937464	3	4	22	1	0	0	0	0	1	0	0	0	11329	1319	46	3	1376	3	OSGIN2	8	90937464	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	2571566	90937464	55426558	130	5976											
RIMS2	9699	genome.wustl.edu	37	chr8	104898169	104898169	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacccatagatagaccagacTtgaggcgtactgactcacta	13	9	8	11	1	1	5	1	2	0	3	1	5	1	5	2	1	2	1	2	1	5	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:104898169T>C	ENST00000436393.2	+	2	917	c.676T>C	c.(676-678)Ttg>Ctg	p.L226L	RIMS2_ENST00000262231.10_Silent_p.L256L|RIMS2_ENST00000406091.3_Silent_p.L448L|RIMS2_ENST00000507740.1_Silent_p.L256L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	479					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.L256L(1)|p.L226L(1)|p.L484L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGACCAGACTTGAGGCGTAC	0.463										HNSCC(12;0.0054)																																							3	Substitution - coding silent(3)	large_intestine(3)											102	94	97					8																	104898169		1929	4148	6077	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.676T>C	8.37:g.104898169T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.L448	ENST00000436393.2	37	c.1342		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	27	0	T	NM_001100117		104898169	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	5.75	81	5	SNP	0.117	C	C	104898169	T	C	104898169	2	2	22	1	0	0	0	0	0	0	0	1	13413	1606	56	4		4	RIMS2	8	104898169	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	13960705	104898169	41465853	131	5977											
RIMS2	9699	genome.wustl.edu	37	chr8	105261742	105261742	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtaggaatgatggacaAaaagggacagctggaggtag	15	6	16	4	0	1	1	1	1	0	0	1	5	1	5	0	6	1	3	0	6	5	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:105261742A>C	ENST00000436393.2	+	26	3912	c.3671A>C	c.(3670-3672)aAa>aCa	p.K1224T	RIMS2_ENST00000262231.10_Missense_Mutation_p.K1045T|RIMS2_ENST00000339750.2_Missense_Mutation_p.K142T|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1206T|RIMS2_ENST00000507740.1_Missense_Mutation_p.K1020T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1268					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGATGGACAAAAAGGGACAG	0.408										HNSCC(12;0.0054)																																							0													72	74	73					8																	105261742		1864	4086	5950	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3671A>C	8.37:g.105261742A>C	ENSP00000390665:p.Lys1224Thr		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1206T	ENST00000436393.2	37	c.3617		8	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357162	0.82243	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;0.95;-1.02;-1.02;-1.02	5.6	5.6	0.85130	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.78622	0.4312	N	0.11845	0.185	0.80722	D	1	P;D;P;D;D	0.67145	0.937;0.973;0.724;0.996;0.996	P;D;P;D;D	0.77557	0.862;0.946;0.872;0.99;0.99	T	0.82149	-0.0600	9	0.52906	T	0.07	.	15.7857	0.78300	1.0:0.0:0.0:0.0	.	1268;1224;1045;1020;1206	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	T	1243;1206;1268;1045;1020;1213;1224;142;142	ENSP00000384892:K1206T;ENSP00000262231:K1045T;ENSP00000423559:K1020T;ENSP00000386228:K1213T;ENSP00000390665:K1224T;ENSP00000428478:K142T;ENSP00000342051:K142T	ENSP00000262231:K1045T	K	+	2	0	RIMS2	105330918	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.369000	0.73109	2.142000	0.66516	0.528000	0.53228	AAA	RIMS2	-	superfamily_C2_dom	ENSG00000176406		0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	38	0	A	NM_001100117		105261742	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	30.97	78	35	SNP	1.000	C	C	105261742	A	C	105261742	3	2	22	1	0	0	0	0	1	0	0	0	13413	14	1	4	3899	4	RIMS2	8	105261742	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	363573	105261742	41102280	132	5978											
DPYS	1807	genome.wustl.edu	37	chr8	105436539	105436539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagctattcttccttttcTtggatagagattaaaaattt	12	18	5	6	0	2	1	0	0	2	1	3	3	3	2	1	1	2	1	1	1	6	10			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:105436539T>C	ENST00000351513.2	-	7	1303	c.1171A>G	c.(1171-1173)Aga>Gga	p.R391G	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	391					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTTTTCTTGGATAGAGA	0.373																																																	0													169	164	166					8																	105436539		2203	4300	6503	SO:0001583	missense	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1171A>G	8.37:g.105436539T>C	ENSP00000276651:p.Arg391Gly			Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R391G	ENST00000351513.2	37	c.1171	CCDS6302.1	8	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683836	0.68157	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.98	3.48	0.39840	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.202406	0.53938	D	0.000050	D	0.90858	0.7128	M	0.67700	2.07	0.33878	D	0.635796	P	0.49961	0.93	P	0.52710	0.707	D	0.94096	0.7357	10	0.87932	D	0	-16.3089	13.1063	0.59249	0.0:0.0:0.2514:0.7486	.	391	Q14117	DPYS_HUMAN	G	391	ENSP00000276651:R391G	ENSP00000276651:R391G	R	-	1	2	DPYS	105505715	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.380000	0.59581	1.063000	0.40649	-0.316000	0.08728	AGA	DPYS	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.373	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	-	0	63	0	T	NM_001385		105436539	-1	tier1	-	no_errors	ENST00000351513	ensembl	human	known	74_37	missense	10.14	124	14	SNP	1.000	C	C	105436539	T	C	105436539	3	2	22	1	0	0	0	0	1	0	0	0	4760	1617	56	4	400	4	DPYS	8	105436539	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	174797	105436539	40927483	133	5979											
CSMD3	114788	genome.wustl.edu	37	chr8	113277663	113277663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagttggcattactccaCtccatgtgccattaattgta	11	14	6	10	0	0	0	0	0	0	0	2	0	2	0	3	1	3	3	3	1	5	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:113277663C>G	ENST00000297405.5	-	60	9909	c.9665G>C	c.(9664-9666)aGt>aCt	p.S3222T	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3182T|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3053T|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3152T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3222	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTACTCCACTCCATGTGCC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													162	144	150					8																	113277663		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9665G>C	8.37:g.113277663C>G	ENSP00000297405:p.Ser3222Thr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S3222T	ENST00000297405.5	37	c.9665	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124861	0.77436	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.53671	1.685	0.48696	D	0.999694	P;P;P	0.49862	0.855;0.929;0.917	P;P;P	0.59115	0.508;0.852;0.693	T	0.71652	-0.4528	10	0.42905	T	0.14	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	3053;3222;3182	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3182;3222;2492;3053;3152	ENSP00000345799:S3182T;ENSP00000297405:S3222T;ENSP00000341558:S2492T;ENSP00000412263:S3053T;ENSP00000343124:S3152T	ENSP00000297405:S3222T	S	-	2	0	CSMD3	113346839	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.319000	0.51983	2.714000	0.92807	0.585000	0.79938	AGT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	53	0	C	NM_052900		113277663	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	7.84	94	8	SNP	1.000	G	G	113277663	C	G	113277663	3	3	22	1	0	0	0	0	1	0	0	0	3955	565	20	5	1506	5	CSMD3	8	113277663	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	7841124	113277663	33086359	134	5980											
CSMD3	114788	genome.wustl.edu	37	chr8	113326137	113326137	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttataagttttacatacctAtatatcttatccggaagcct	12	16	5	8	1	1	0	0	0	1	0	2	1	2	1	3	1	3	2	3	1	9	9			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:113326137A>T	ENST00000297405.5	-	49	7938	c.7694T>A	c.(7693-7695)aTa>aAa	p.I2565K	CSMD3_ENST00000343508.3_Missense_Mutation_p.I2525K|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2461K|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2495K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2565	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACATACCTATATATCTTAT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													106	111	109					8																	113326137		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7694T>A	8.37:g.113326137A>T	ENSP00000297405:p.Ile2565Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I2565K	ENST00000297405.5	37	c.7694	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880228	0.72294	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.63	5.63	0.86233	CUB (4);	0.071576	0.56097	D	0.000021	T	0.37652	0.1011	N	0.21142	0.635	0.80722	D	1	D;P;P	0.55800	0.973;0.919;0.917	P;P;P	0.58928	0.848;0.709;0.503	T	0.09357	-1.0678	10	0.05833	T	0.94	.	15.8178	0.78618	1.0:0.0:0.0:0.0	.	2461;2565;2525	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	2525;2565;1835;2461;2495	ENSP00000345799:I2525K;ENSP00000297405:I2565K;ENSP00000341558:I1835K;ENSP00000412263:I2461K;ENSP00000343124:I2495K	ENSP00000297405:I2565K	I	-	2	0	CSMD3	113395313	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.425000	0.73370	2.129000	0.65627	0.472000	0.43445	ATA	CSMD3	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	43	0	A	NM_052900		113326137	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	10.43	146	17	SNP	1.000	T	T	113326137	A	T	113326137	3	4	22	1	0	0	0	0	1	0	0	0	3955	449	16	5	3521	5	CSMD3	8	113326137	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	48474	113326137	33037885	135	5981											
EXT1	2131	genome.wustl.edu	37	chr8	118825191	118825191	+	Frame_Shift_Del	DEL	T	T	-																															gtcgtagggcagaaaacggcTgctcataacctgggaggaag																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:118825191delT	ENST00000378204.2	-	8	2448	c.1642delA	c.(1642-1644)agcfs	p.S548fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	548	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGAAAACGGCTGCTCATAACC	0.517			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0			GRCh37	CD012248	EXT1	D							141	111	121					8																	118825191		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1642delA	8.37:g.118825191delT	ENSP00000367446:p.Ser548fs		B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.S548fs	ENST00000378204.2	37	c.1642	CCDS6324.1	8																																																																																			EXT1	-	pfam_HexNAc_Trfase_a	ENSG00000182197		0.517	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3		0	19	0	T	NM_000127		118825191	-1	tier1		no_errors	ENST00000378204	ensembl	human	known	74_37	frame_shift_del	75.38	16	49	DEL	1.000	-	-	118825191	T	-	118825191	7	5	22	1	0	1	0	1	0	0	0	0	5339	1580	55	0	614	0	EXT1	8	118825191	Frame_Shift_Del	DEL	T	TCGA-IG-A4QS-01A-11D-A27G-09	5499054	118825191	27538831	136	5982											
COL14A1	7373	genome.wustl.edu	37	chr8	121381666	121381666	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttcctggaccccaaggTccttctggccagcctggata	6	9	13	13	0	1	0	0	0	1	0	3	2	3	2	6	6	1	1	6	6	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:121381666T>A	ENST00000297848.3	+	47	5523	c.5253T>A	c.(5251-5253)ggT>ggA	p.G1751G	COL14A1_ENST00000309791.4_Silent_p.G1751G|COL14A1_ENST00000247781.3_Silent_p.G1656G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACCCCAAGGTCCTTCTGGCC	0.592																																																	0													69	71	71					8																	121381666		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.5253T>A	8.37:g.121381666T>A				Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G1751	ENST00000297848.3	37	c.5253	CCDS34938.1	8																																																																																			COL14A1	-	NULL	ENSG00000187955		0.592	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	41	0	T	NM_021110		121381666	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	6.67	70	5	SNP	1.000	A	A	121381666	T	A	121381666	2	1	22	1	0	0	0	0	0	0	0	1	3678	1654	58	5		5	COL14A1	8	121381666	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	2556475	121381666	24982356	137	5983											
OPLAH	26873	genome.wustl.edu	37	chr8	145110038	145110038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacaggagaagtccagaCgctccttgatgttggtggag	9	8	16	8	1	0	3	0	1	0	2	2	5	2	4	2	4	0	3	2	4	1	2	rs539275646		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:145110038C>T	ENST00000426825.1	-	17	2384	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	768					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTCCAGACGCTCCTTGAT	0.647																																																	0													36	42	40					8																	145110038		2063	4202	6265	SO:0001583	missense	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2303G>A	8.37:g.145110038C>T	ENSP00000475943:p.Arg768His		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.R768H	ENST00000426825.1	37	c.2303		8	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711318	0.48517	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.41	4.52	0.55395	.	0.051755	0.85682	D	0.000000	T	0.79411	0.4441	.	.	.	0.49915	D	0.999839	D	0.89917	1.0	D	0.97110	1.0	D	0.85156	0.0989	7	0.87932	D	0	.	13.9899	0.64359	0.0:0.847:0.153:0.0	.	768	O14841	OPLA_HUMAN	H	768	.	ENSP00000412071:R768H	R	-	2	0	OPLAH	145182026	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	6.783000	0.75078	1.269000	0.44280	0.561000	0.74099	CGT	OPLAH	-	pfam_Hydantoinase_B	ENSG00000178814		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		-	0	35	0	C	NM_017570		145110038	-1	tier1	-	no_errors	ENST00000426825	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.999	T	T	145110038	C	T	145110038	3	4	22	1	0	0	0	0	1	0	0	0	10915	536	19	1	1609	1	OPLAH	8	145110038	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	23728372	145110038	1253984	138	5984											
FAM75A6	389730	genome.wustl.edu	37	chr9	43625621	43625621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacaacagcggcacaaacTtgaggctgggtctctgactt	11	8	11	11	1	1	2	0	2	1	0	2	2	1	2	0	3	4	3	0	3	2	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:43625621T>G	ENST00000332857.6	-	4	3094	c.3066A>C	c.(3064-3066)caA>caC	p.Q1022H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1022					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGGCACAAACTTGAGGCTGGG	0.517																																																	0													1	1	1					9																	43625621		8	44	52	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3066A>C	9.37:g.43625621T>G	ENSP00000329825:p.Gln1022His			Missense_Mutation	SNP	NULL	p.Q1022H	ENST00000332857.6	37	c.3066	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011892	0.35511	.	.	ENSG00000185775	ENST00000332857	T	0.09445	2.98	2.44	1.28	0.21552	.	.	.	.	.	T	0.24586	0.0596	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.07309	-1.0779	9	0.72032	D	0.01	.	4.2403	0.10645	0.0:0.1718:0.0:0.8282	.	1022	Q5VVP1	F75A6_HUMAN	H	1022	ENSP00000329825:Q1022H	ENSP00000329825:Q1022H	Q	-	3	2	FAM75A6	43565617	0.067000	0.21026	0.025000	0.17156	0.032000	0.12392	-0.063000	0.11655	0.381000	0.24851	0.315000	0.21342	CAA	SPATA31A6	-	NULL	ENSG00000185775		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0	46	0	T	NM_001145196		43625621	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	20.00	55	14	SNP	0.033	G	G	43625621	T	G	43625621	3	3	22	1	0	0	0	0	1	0	0	0	5644	1606	56	4	969	4	FAM75A6	9	43625621	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09		43625621	97587810	139	5985											
TLE4	7091	genome.wustl.edu	37	chr9	82321669	82321669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctttgtaggatccatCttcccctcgagggagcccag	6	12	10	13	1	1	0	0	0	1	0	5	3	4	2	5	2	1	2	5	2	1	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:82321669C>A	ENST00000376552.2	+	11	1809	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	TLE4_ENST00000265284.6_Missense_Mutation_p.S239Y|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.S264Y|TLE4_ENST00000376520.4_Missense_Mutation_p.S264Y|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	264	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAGGATCCATCTTCCCCTCGA	0.493																																																	0													119	117	118					9																	82321669		1939	4124	6063	SO:0001583	missense	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.791C>A	9.37:g.82321669C>A	ENSP00000365735:p.Ser264Tyr		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S264Y	ENST00000376552.2	37	c.791	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570155	0.86542	.	.	ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284	T;T;T;T	0.50277	0.75;0.82;0.8;0.81	6.05	6.05	0.98169	.	0.218755	0.49305	D	0.000152	T	0.64125	0.2570	L	0.52573	1.65	0.80722	D	1	P;P;B	0.40083	0.655;0.702;0.349	P;P;B	0.55999	0.601;0.789;0.396	T	0.59757	-0.7394	10	0.59425	D	0.04	-18.0728	20.6013	0.99457	0.0:1.0:0.0:0.0	.	239;264;264	F8W6T6;Q04727-3;Q04727	.;.;TLE4_HUMAN	Y	264;264;264;239	ENSP00000365735:S264Y;ENSP00000365703:S264Y;ENSP00000365720:S264Y;ENSP00000265284:S239Y	ENSP00000265284:S239Y	S	+	2	0	TLE4	81511489	0.988000	0.35896	0.928000	0.36995	0.960000	0.62799	4.946000	0.63576	2.878000	0.98634	0.650000	0.86243	TCT	TLE4	-	NULL	ENSG00000106829		0.493	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	-	0	19	0	C	XM_212237		82321669	1	tier1	-	no_errors	ENST00000376520	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.937	A	A	82321669	C	A	82321669	3	1	22	1	0	0	0	0	1	0	0	0	15988	913	32	3	833	3	TLE4	9	82321669	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	38696048	82321669	58891762	140	5986											
AKNA	80709	genome.wustl.edu	37	chr9	117108226	117108226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccgagctgcctgtggaCtgtccttggtggtcttgctc	3	13	12	13	1	1	0	0	0	1	0	4	2	3	1	3	3	3	2	3	3	0	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:117108226C>T	ENST00000307564.4	-	18	3739	c.3578G>A	c.(3577-3579)aGt>aAt	p.S1193N	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.S653N|AKNA_ENST00000374079.4_Missense_Mutation_p.S138N|AKNA_ENST00000374075.5_Missense_Mutation_p.S1112N|AKNA_ENST00000374088.3_Missense_Mutation_p.S1193N	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1193					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGCCTGTGGACTGTCCTTGGT	0.592																																																	0													86	76	80					9																	117108226		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3578G>A	9.37:g.117108226C>T	ENSP00000303769:p.Ser1193Asn		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.S1193N	ENST00000307564.4	37	c.3578	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707407	0.30322	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.19394	2.55;2.15;2.55;2.32;2.54	4.57	1.59	0.23543	.	0.446620	0.21164	N	0.079110	T	0.15349	0.0370	M	0.65975	2.015	0.09310	N	1	P;P	0.42518	0.675;0.782	B;B	0.30495	0.054;0.116	T	0.18335	-1.0340	10	0.26408	T	0.33	0.4088	6.7835	0.23659	0.0:0.674:0.0:0.326	.	1193;1112	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	N	1193;138;205;1193;653;1112	ENSP00000303769:S1193N;ENSP00000363192:S138N;ENSP00000363201:S1193N;ENSP00000223791:S653N;ENSP00000363188:S1112N	ENSP00000223791:S653N	S	-	2	0	AKNA	116148047	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.231000	0.09069	0.206000	0.20587	0.561000	0.74099	AGT	AKNA	-	NULL	ENSG00000106948		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0	36	0	C	NM_030767		117108226	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T	T	117108226	C	T	117108226	3	4	22	1	0	0	0	0	1	0	0	0	463	565	20	3	761	3	AKNA	9	117108226	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	34786557	117108226	24105205	141	5987											
TLR4	7099	genome.wustl.edu	37	chr9	120475582	120475582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaaaggttgctgttcTcaaagtgattttgggacaac	11	14	10	6	0	2	1	2	1	1	0	3	2	2	2	0	2	2	4	0	2	3	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:120475582T>C	ENST00000355622.6	+	3	1277	c.1176T>C	c.(1174-1176)tcT>tcC	p.S392S	TLR4_ENST00000394487.4_Silent_p.S352S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	392					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GTTGCTGTTCTCAAAGTGATT	0.393																																																	0													52	55	54					9																	120475582		2203	4300	6503	SO:0001819	synonymous_variant	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1176T>C	9.37:g.120475582T>C			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.S392	ENST00000355622.6	37	c.1176	CCDS6818.1	9																																																																																			TLR4	-	pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp	ENSG00000136869		0.393	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0	20	0	T	NM_138554		120475582	1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.914	C	C	120475582	T	C	120475582	2	2	22	1	0	0	0	0	0	0	0	1	16000	1538	54	4		4	TLR4	9	120475582	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	3367356	120475582	20737849	142	5988											
BAT2L1	84726	genome.wustl.edu	37	chr9	134358095	134358095	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctctctgcttttttatcaAggattcagaacaaggctctg	10	14	7	10	0	4	1	2	0	2	1	5	2	4	2	1	2	2	2	1	2	4	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:134358095A>C	ENST00000357304.4	+	21	5230		c.e21-1		PRRC2B_ENST00000372249.1_Splice_Site|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000458550.1_Splice_Site|PRRC2B_ENST00000405995.1_Splice_Site	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTTTTATCAAGGATTCAGAA	0.527																																																	0													22	24	23					9																	134358095		1960	4136	6096	SO:0001630	splice_region_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5176-1A>C	9.37:g.134358095A>C			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Splice_Site	SNP	-	e21-2	ENST00000357304.4	37	c.5176-2	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111614	0.56398	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000451855	.	.	.	4.87	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5685	0.27894	0.8303:0.0:0.1697:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRC2B	133347916	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	8.730000	0.91510	1.825000	0.53177	0.459000	0.35465	.	PRRC2B	-	-	ENSG00000130723		0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0	38	0	A		Intron	134358095	1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	splice_site	37.84	23	14	SNP	0.996	C	C	134358095	A	C	134358095	5	2	22	1	0	0	0	0	0	0	1	0	1321	86	3	4	5256	4	BAT2L1	9	134358095	Splice_Site	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	13882513	134358095	6855336	143	5989											
LCN15	389812	genome.wustl.edu	37	chr9	139656718	139656718	+	Frame_Shift_Del	DEL	G	G	-																															ctggaaggacttcagagcctGgggactcacatcctgggtcc																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:139656718delG	ENST00000316144.5	-	5	466	c.442delC	c.(442-444)cagfs	p.Q148fs	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	148					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TTCAGAGCCTGGGGACTCACA	0.637																																																	0													21	21	21					9																	139656718		2190	4296	6486	SO:0001589	frameshift_variant	0				CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.442delC	9.37:g.139656718delG	ENSP00000313833:p.Gln148fs			Frame_Shift_Del	DEL	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.Q148fs	ENST00000316144.5	37	c.442	CCDS7006.1	9																																																																																			LCN15	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	ENSG00000177984		0.637	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	HGNC	protein_coding	OTTHUMT00000055114.2		0	23	0	G	NM_203347		139656718	-1	tier1		no_errors	ENST00000316144	ensembl	human	known	74_37	frame_shift_del	13.04	20	3	DEL	0.341	-	-	139656718	G	-	139656718	7	5	22	1	0	1	0	1	0	0	0	0	8711	1357	47	0	120	0	LCN15	9	139656718	Frame_Shift_Del	DEL	G	TCGA-IG-A4QS-01A-11D-A27G-09	5298623	139656718	1556713	144	5990											
ZMYND11	10771	genome.wustl.edu	37	chr10	283566	283566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaggacaataaacacccGatgtacaggaggctggtgca	14	5	14	8	1	0	0	0	0	0	0	0	4	0	3	1	5	3	3	1	5	5	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:283566G>A	ENST00000397962.3	+	6	986	c.558G>A	c.(556-558)ccG>ccA	p.P186P	ZMYND11_ENST00000381584.1_Silent_p.P169P|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000381607.4_Silent_p.P92P|ZMYND11_ENST00000403354.1_Silent_p.P132P|ZMYND11_ENST00000535374.1_Silent_p.P29P|ZMYND11_ENST00000381602.4_Silent_p.P146P|ZMYND11_ENST00000545619.1_Silent_p.P92P|ZMYND11_ENST00000381591.1_Silent_p.P186P|ZMYND11_ENST00000309776.4_Silent_p.P146P|ZMYND11_ENST00000558098.2_Silent_p.P186P|ZMYND11_ENST00000509513.2_Silent_p.P186P|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000381604.4_Silent_p.P146P|ZMYND11_ENST00000402736.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	186	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATAAACACCCGATGTACAGGA	0.398																																																	0													114	110	111					10																	283566		2203	4300	6503	SO:0001819	synonymous_variant	0			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"Zinc fingers, MYND-type"	16966	protein-coding gene	gene with protein product		608668	"zinc finger, MYND domain containing 11"			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.558G>A	10.37:g.283566G>A			B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.P186	ENST00000397962.3	37	c.558	CCDS7052.2	10																																																																																			ZMYND11	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000015171		0.398	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	-	0	33	0	G	NM_006624		283566	1	tier1	-	no_errors	ENST00000381591	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.258	A	A	283566	G	A	283566	2	1	22	1	0	0	0	0	0	0	0	1	17754	1045	37	1		1	ZMYND11	10	283566	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		283566	135251181	145	5991											
CDC123	8872	genome.wustl.edu	37	chr10	12257743	12257743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctctctgtaggcacCagaatttcctgagtttgcca	7	15	7	12	0	3	2	0	1	3	1	6	2	4	2	3	1	1	3	3	1	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:12257743C>G	ENST00000281141.4	+	5	522	c.242C>G	c.(241-243)cCa>cGa	p.P81R	CDC123_ENST00000378900.2_Missense_Mutation_p.P81R|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	81					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CTGTAGGCACCAGAATTTCCT	0.413																																																	0													94	89	90					10																	12257743		2203	4300	6503	SO:0001583	missense	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 7", "cell division cycle 123 homolog (S. cerevisiae)"	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.242C>G	10.37:g.12257743C>G	ENSP00000281141:p.Pro81Arg		A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	pfam_D123,pirsf_Cell_div_Cdc123	p.P81R	ENST00000281141.4	37	c.242	CCDS7090.1	10	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440502	0.83993	.	.	ENSG00000151465	ENST00000281141;ENST00000378900;ENST00000455773	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.69185	2.1	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.74788	-0.3546	9	0.33940	T	0.23	-11.2132	19.0431	0.93010	0.0:1.0:0.0:0.0	.	81	O75794	CD123_HUMAN	R	81;81;39	.	ENSP00000281141:P81R	P	+	2	0	CDC123	12297749	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	6.852000	0.75430	2.590000	0.87494	0.655000	0.94253	CCA	CDC123	-	pfam_D123,pirsf_Cell_div_Cdc123	ENSG00000151465		0.413	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1		0	32	0	C	NM_006023		12257743	1			no_errors	ENST00000281141	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	G	G	12257743	C	G	12257743	3	3	22	1	0	0	0	0	1	0	0	0	3062	594	21	5	260	5	CDC123	10	12257743	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	11974177	12257743	123277004	146	5992											
KIF5B	3799	genome.wustl.edu	37	chr10	32307483	32307483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttgttctcgtctatcttGcataaccctaacagtagaag	10	14	7	10	1	3	1	0	0	3	1	4	1	3	1	1	0	4	4	1	0	5	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:32307483G>T	ENST00000302418.4	-	21	2771	c.2314C>A	c.(2314-2316)Caa>Aaa	p.Q772K	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	772					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CGTCTATCTTGCATAACCCTA	0.323			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													125	120	122					10																	32307483		2203	4300	6503	SO:0001583	missense	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2314C>A	10.37:g.32307483G>T	ENSP00000307078:p.Gln772Lys		A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q772K	ENST00000302418.4	37	c.2314	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965137	0.34659	.	.	ENSG00000170759	ENST00000302418	T	0.74421	-0.84	4.9	4.9	0.64082	.	0.117882	0.64402	D	0.000014	T	0.70202	0.3197	L	0.44542	1.39	0.47905	D	0.999544	B	0.18741	0.03	B	0.22753	0.041	T	0.67007	-0.5779	10	0.46703	T	0.11	.	18.4162	0.90571	0.0:0.0:1.0:0.0	.	772	P33176	KINH_HUMAN	K	772	ENSP00000307078:Q772K	ENSP00000307078:Q772K	Q	-	1	0	KIF5B	32347489	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.813000	0.99286	2.421000	0.82119	0.585000	0.79938	CAA	KIF5B	-	NULL	ENSG00000170759		0.323	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	-	0	64	0	G	NM_004521		32307483	-1	tier1	-	no_errors	ENST00000302418	ensembl	human	known	74_37	missense	25.53	70	24	SNP	1.000	T	T	32307483	G	T	32307483	3	4	22	1	0	0	0	0	1	0	0	0	8333	1328	46	3	597	3	KIF5B	10	32307483	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	20049740	32307483	103227264	147	5993											
ANUBL1	93550	genome.wustl.edu	37	chr10	46143749	46143749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttatggagtacctcatacGatgttctccttttctccgta	7	17	7	10	2	3	0	1	0	2	0	5	2	3	1	3	1	2	4	3	1	4	8	rs146833659		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:46143749G>A	ENST00000344646.5	-	5	777	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	ZFAND4_ENST00000374366.3_Missense_Mutation_p.R114C|ZFAND4_ENST00000374371.2_Missense_Mutation_p.R188C|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	188							zinc ion binding (GO:0008270)	p.R188C(1)									TACCTCATACGATGTTCTCCT	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)						A	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77	73	74		562,562	-5.1	0	10	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	188/728,188/728	46143749	1,13005	2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.562C>T	10.37:g.46143749G>A	ENSP00000339484:p.Arg188Cys		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.R188C	ENST00000344646.5	37	c.562	CCDS7214.1	10	.	.	.	.	.	.	.	.	.	.	g	8.451	0.853030	0.17106	0.0	1.16E-4	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.51574	1.88;0.7;1.88	4.05	-5.07	0.02938	.	3.608530	0.01285	N	0.009872	T	0.31389	0.0795	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	10	0.46703	T	0.11	-24.5088	5.8799	0.18850	0.5348:0.0:0.3213:0.1438	.	188;188	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	C	188;188;114;188;70	ENSP00000339484:R188C;ENSP00000363491:R188C;ENSP00000363486:R114C	ENSP00000339484:R188C	R	-	1	0	ANUBL1	45463755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.610000	0.05629	-1.128000	0.02922	-1.969000	0.00466	CGT	ZFAND4	-	NULL	ENSG00000172671		0.383	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	-	0	33	0	G	NM_174890		46143749	-1	tier1	rs146833659	no_errors	ENST00000344646	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.000	A	A	46143749	G	A	46143749	3	1	22	1	0	0	0	0	1	0	0	0	713	1058	37	1	1645	1	ANUBL1	10	46143749	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	13836266	46143749	89390998	148	5994											
DRGX	644168	genome.wustl.edu	37	chr10	50599279	50599279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccgtcatcaaaatccccCgaagagtgattgccaaaggt	14	7	8	12	2	2	2	2	1	0	1	3	3	3	2	4	1	2	0	4	1	5	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:50599279C>T	ENST00000374139.2	-	2	73	c.63G>A	c.(61-63)tcG>tcA	p.S21S	DRGX_ENST00000434016.1_Silent_p.S26S			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	21					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CAAAATCCCCCGAAGAGTGAT	0.537																																																	0													44	44	44					10																	50599279		1911	4104	6015	SO:0001819	synonymous_variant	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.63G>A	10.37:g.50599279C>T				Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.S26	ENST00000374139.2	37	c.78		10																																																																																			DRGX	-	NULL	ENSG00000165606		0.537	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	-	0	30	0	C	XM_060970		50599279	-1	tier1	-	no_errors	ENST00000434016	ensembl	human	known	74_37	silent	50.00	10	10	SNP	0.009	T	T	50599279	C	T	50599279	2	4	22	1	0	0	0	0	0	0	0	1	4777	639	23	1		1	DRGX	10	50599279	Silent	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	4455530	50599279	84935468	149	5995											
CISD1	55847	genome.wustl.edu	37	chr10	60029032	60029032	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgccttgcaagcgacggcgCcatgagtctgacttccagtt	8	9	11	13	4	1	2	0	2	1	0	2	3	2	2	3	1	2	2	3	1	1	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:60029032C>T	ENST00000333926.5	+	0	215				IPMK_ENST00000373935.3_5'Flank	NM_018464.4	NP_060934.1	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1						regulation of cellular respiration (GO:0043457)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)			breast(1)	1						AGCGACGGCGCCATGAGTCTG	0.642																																																	0													64	55	58					10																	60029032		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AY960578	CCDS7251.1	10q21.3	2011-01-05	2007-08-10	2007-08-10	ENSG00000122873	ENSG00000122873		"CDGSH iron sulfur domain containing"	30880	protein-coding gene	gene with protein product		611932	"chromosome 10 open reading frame 70", "zinc finger, CDGSH-type domain 1"	C10orf70, ZCD1		17376863, 17584744	Standard	NM_018464		Approved	MDS029, mitoNEET	uc001jkc.5	Q9NZ45	OTTHUMG00000018266	ENST00000333926.5:c.-2C>T	10.37:g.60029032C>T			Q1X902	RNA	SNP	-	NULL	ENST00000333926.5	37	NULL	CCDS7251.1	10																																																																																			CISD1	-	-	ENSG00000122873		0.642	CISD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD1	HGNC	protein_coding	OTTHUMT00000048137.1	-	0	99	0	C	NM_018464		60029032	1	tier1	-	no_errors	ENST00000464703	ensembl	human	known	74_37	rna	30.77	54	24	SNP	0.995	T	T	60029032	C	T	60029032	1	4	22	0	1	0	0	0	0	0	0	0	3442	754	26	3		3	CISD1	10	60029032	5'UTR	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	9429753	60029032	75505715	150	5996											
PHYHIPL	84457	genome.wustl.edu	37	chr10	60994157	60994157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataacgtgtgactcattcaAgatttcatgggaaatggatt	13	14	9	5	1	3	2	3	1	0	1	3	4	3	4	0	2	1	0	0	2	4	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:60994157A>G	ENST00000373880.4	+	2	464	c.200A>G	c.(199-201)aAg>aGg	p.K67R	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.K41R	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	67	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GACTCATTCAAGATTTCATGG	0.358																																																	0													116	102	107					10																	60994157		2203	4300	6503	SO:0001583	missense	0			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.200A>G	10.37:g.60994157A>G	ENSP00000362987:p.Lys67Arg		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.K67R	ENST00000373880.4	37	c.200	CCDS7254.1	10	.	.	.	.	.	.	.	.	.	.	A	8.770	0.925584	0.18056	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.56275	0.47;0.47	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.123818	0.52532	D	0.000072	T	0.30166	0.0756	N	0.04203	-0.255	0.80722	D	1	B;B	0.12013	0.005;0.004	B;B	0.10450	0.003;0.005	T	0.20009	-1.0288	10	0.09590	T	0.72	-38.9622	16.1172	0.81314	1.0:0.0:0.0:0.0	.	41;67	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	R	67;41	ENSP00000362987:K67R;ENSP00000362985:K41R	ENSP00000362985:K41R	K	+	2	0	PHYHIPL	60664163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.322000	0.72886	2.266000	0.75297	0.533000	0.62120	AAG	PHYHIPL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165443		0.358	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHIPL	HGNC	protein_coding	OTTHUMT00000048156.1	-	0	31	0	A	NM_032439		60994157	1	tier1	-	no_errors	ENST00000373880	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	G	G	60994157	A	G	60994157	3	3	22	1	0	0	0	0	1	0	0	0	11906	72	3	4	238	4	PHYHIPL	10	60994157	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	965125	60994157	74540590	151	5997											
POLR3A	11128	genome.wustl.edu	37	chr10	79762008	79762008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctcttgtccagctccCggaggcaggcactgccagcg	5	9	13	14	2	1	0	0	0	1	0	3	1	3	1	3	3	4	5	3	3	0	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:79762008C>T	ENST00000372371.3	-	17	2443	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	769					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCCAGCTCCCGGAGGCAGGC	0.592																																																	0													72	59	64					10																	79762008		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2306G>A	10.37:g.79762008C>T	ENSP00000361446:p.Arg769Gln		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R769Q	ENST00000372371.3	37	c.2306	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832079	0.71258	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.75938	-0.98	5.49	4.56	0.56223	RNA polymerase Rpb1, domain 4 (1);	0.108901	0.64402	D	0.000010	T	0.62998	0.2474	L	0.41079	1.255	0.58432	D	0.999999	P	0.39157	0.662	B	0.30495	0.116	T	0.62369	-0.6869	9	.	.	.	-17.355	15.7148	0.77658	0.1377:0.8623:0.0:0.0	.	769	O14802	RPC1_HUMAN	Q	769	ENSP00000361446:R769Q	.	R	-	2	0	POLR3A	79432014	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.206000	0.77891	1.395000	0.46643	0.655000	0.94253	CGG	POLR3A	-	pfam_RNA_pol_Rpb1_4	ENSG00000148606		0.592	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0	38	0	C	NM_007055		79762008	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	67.31	17	35	SNP	1.000	T	T	79762008	C	T	79762008	3	4	22	1	0	0	0	0	1	0	0	0	12267	652	23	1	1926	1	POLR3A	10	79762008	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	18767851	79762008	55772739	152	5998											
PLCE1	51196	genome.wustl.edu	37	chr10	96058377	96058377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacccgaaccccctcatGttctggctccatgggataca	9	9	7	16	1	2	0	1	0	1	0	4	2	4	1	5	2	3	2	5	2	3	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:96058377G>A	ENST00000371380.3	+	23	5644	c.5409G>A	c.(5407-5409)atG>atA	p.M1803I	PLCE1_ENST00000371375.1_Missense_Mutation_p.M1495I|PLCE1_ENST00000260766.3_Missense_Mutation_p.M1803I|PLCE1_ENST00000371385.3_Missense_Mutation_p.M1495I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1803	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCCCCTCATGTTCTGGCTCC	0.542																																																	0													125	124	124					10																	96058377		2049	4198	6247	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5409G>A	10.37:g.96058377G>A	ENSP00000360431:p.Met1803Ile		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.M1803I	ENST00000371380.3	37	c.5409	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	6.180	0.401395	0.11696	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.82	0.739	0.18324	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.490324	0.23847	N	0.043991	T	0.13114	0.0318	N	0.00729	-1.24	0.32769	N	0.504036	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.14671	-1.0464	10	0.17832	T	0.49	.	5.6697	0.17715	0.1376:0.5113:0.2404:0.1107	.	1787;1495;1803	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	1803;1803;1495;1495	ENSP00000260766:M1803I;ENSP00000360431:M1803I;ENSP00000360438:M1495I;ENSP00000360426:M1495I	ENSP00000260766:M1803I	M	+	3	0	PLCE1	96048367	0.988000	0.35896	0.992000	0.48379	0.978000	0.69477	0.280000	0.18790	0.093000	0.17368	-0.175000	0.13238	ATG	PLCE1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	ENSG00000138193		0.542	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	40	0	G	NM_016341		96058377	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.981	A	A	96058377	G	A	96058377	3	1	22	1	0	0	0	0	1	0	0	0	12073	1377	48	3	5785	3	PLCE1	10	96058377	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	16296369	96058377	39476370	153	5999											
NOC3L	64318	genome.wustl.edu	37	chr10	96116319	96116319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagttccctctcttcttcttGatcctcttcatctttgttac	5	20	3	13	0	6	1	1	1	5	0	9	1	8	1	2	0	1	2	2	0	2	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:96116319G>C	ENST00000371361.3	-	5	638	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.Q180E	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	180					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCTTCTTCTTGATCCTCTTCA	0.279																																																	0													199	205	203					10																	96116319		2202	4300	6502	SO:0001583	missense	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.538C>G	10.37:g.96116319G>C	ENSP00000360412:p.Gln180Glu		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.Q180E	ENST00000371361.3	37	c.538	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.508947	0.00984	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.10192	2.9;2.9	2.26	2.26	0.28386	.	0.896444	0.09501	N	0.793658	T	0.05135	0.0137	N	0.14661	0.345	0.22156	N	0.999323	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.02654	T	1	1.8245	6.9614	0.24599	0.0:0.2886:0.7114:0.0	.	180	Q8WTT2	NOC3L_HUMAN	E	180	ENSP00000360412:Q180E;ENSP00000360401:Q180E	ENSP00000360401:Q180E	Q	-	1	0	NOC3L	96106309	0.094000	0.21725	0.998000	0.56505	0.906000	0.53458	1.876000	0.39588	1.544000	0.49359	0.650000	0.86243	CAA	NOC3L	-	superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.279	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	-	0	22	0	G	NM_022451		96116319	-1	tier1	-	no_errors	ENST00000371350	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.999	C	C	96116319	G	C	96116319	3	2	22	1	0	0	0	0	1	0	0	0	10553	1299	45	5	1932	5	NOC3L	10	96116319	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	57942	96116319	39418428	154	6000											
ALDH18A1	5832	genome.wustl.edu	37	chr10	97380872	97380872	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttccagttccaagtttttGgcgattcgggtgcggcgcaa	6	13	13	9	4	0	0	0	0	0	0	3	1	2	0	2	3	1	4	2	3	2	5	rs537411575		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:97380872G>T	ENST00000371224.2	-	12	1520	c.1383C>A	c.(1381-1383)gcC>gcA	p.A461A	ALDH18A1_ENST00000371221.3_Silent_p.A459A	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	461	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCAAGTTTTTGGCGATTCGGG	0.542													G|||	1	0.000199681	0	0	5008	,	,		12706	0		0.001	False		,,,				2504	0																0													81	73	76					10																	97380872		2203	4300	6503	SO:0001819	synonymous_variant	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1383C>A	10.37:g.97380872G>T			B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.A461	ENST00000371224.2	37	c.1383	CCDS7443.1	10																																																																																			ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.542	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1		0	56	0	G	NM_002860		97380872	-1			no_errors	ENST00000371224	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	T	T	97380872	G	T	97380872	2	4	22	1	0	0	0	0	0	0	0	1	489	1335	47	3		3	ALDH18A1	10	97380872	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1264553	97380872	38153875	155	6001											
ABCC2	1244	genome.wustl.edu	37	chr10	101553428	101553428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatttcagactctgatcCggacactcttacaggtaagg	11	11	8	11	1	3	2	1	1	2	1	5	3	5	3	2	3	1	1	2	3	3	3	rs146452937		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:101553428C>T	ENST00000370449.4	+	4	567	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	ABCC2_ENST00000370434.1_Missense_Mutation_p.R152W|ABCC2_ENST00000496621.1_3'UTR	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	152					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACTCTGATCCGGACACTCTT	0.453																																																	0													139	129	132					10																	101553428		2203	4300	6503	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.454C>T	10.37:g.101553428C>T	ENSP00000359478:p.Arg152Trp		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R152W	ENST00000370449.4	37	c.454	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735533	0.69189	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	T;T	0.46451	0.87;0.87	5.68	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.80847	2.515	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.69003	-0.5260	10	0.59425	D	0.04	-14.0511	14.24	0.65952	0.2914:0.7086:0.0:0.0	.	152	Q92887	MRP2_HUMAN	W	152	ENSP00000359478:R152W;ENSP00000359463:R152W	ENSP00000359463:R152W	R	+	1	2	ABCC2	101543418	1.000000	0.71417	0.855000	0.33649	0.971000	0.66376	4.390000	0.59646	0.674000	0.31244	0.561000	0.74099	CGG	ABCC2	-	tigrfam_Multidrug-R_assoc	ENSG00000023839		0.453	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0	50	0	C	NM_000392		101553428	1	tier1	rs146452937	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	101553428	C	T	101553428	3	4	22	1	0	0	0	0	1	0	0	0	53	643	23	1	468	1	ABCC2	10	101553428	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	4172556	101553428	33981319	156	6002											
EIF3A	8661	genome.wustl.edu	37	chr10	120830510	120830510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtactttggttatggtggCgctgaatctgcgataagtgc	7	13	13	8	3	1	1	0	1	1	0	1	2	1	1	1	3	3	3	1	3	4	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:120830510C>T	ENST00000369144.3	-	5	756	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R176H	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTTATGGTGGCGCTGAATCTG	0.428																																																	0													155	143	147					10																	120830510		2203	4300	6503	SO:0001583	missense	0			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.629G>A	10.37:g.120830510C>T	ENSP00000358140:p.Arg210His		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.R210H	ENST00000369144.3	37	c.629	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635986	0.87760	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.45276	0.9;0.9	5.69	5.69	0.88448	.	0.000000	0.40222	N	0.001152	T	0.60996	0.2312	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.61603	-0.7029	10	0.87932	D	0	-7.1464	19.813	0.96554	0.0:1.0:0.0:0.0	.	210	Q14152	EIF3A_HUMAN	H	210;176	ENSP00000358140:R210H;ENSP00000438178:R176H	ENSP00000358140:R210H	R	-	2	0	EIF3A	120820500	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.683000	0.91414	0.591000	0.81541	CGC	EIF3A	-	NULL	ENSG00000107581		0.428	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	-	0	111	0	C	NM_003750		120830510	-1	tier1	-	no_errors	ENST00000369144	ensembl	human	known	74_37	missense	22.94	84	25	SNP	1.000	T	T	120830510	C	T	120830510	3	4	22	1	0	0	0	0	1	0	0	0	5026	768	27	1	3591	1	EIF3A	10	120830510	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	19277082	120830510	14704237	157	6003											
OR52H1	390067	genome.wustl.edu	37	chr11	5565851	5565851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctgcttggtcttcacTccgtaaaccatggggttgag	7	13	11	10	1	3	2	1	2	2	0	4	2	4	2	2	3	2	3	2	3	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:5565851T>C	ENST00000322653.4	-	1	928	c.903A>G	c.(901-903)ggA>ggG	p.G301G	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTCTTCACTCCGTAAACCA	0.418																																																	0													157	153	155					11																	5565851		2201	4297	6498	SO:0001819	synonymous_variant	0			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.903A>G	11.37:g.5565851T>C			B9EH26|Q6IF79	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G301	ENST00000322653.4	37	c.903	CCDS31386.1	11																																																																																			OR52H1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000181616		0.418	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	-	0	52	0	T	NM_001005289		5565851	-1	tier1	-	no_errors	ENST00000322653	ensembl	human	known	74_37	silent	16.28	72	14	SNP	0.990	C	C	5565851	T	C	5565851	2	2	22	1	0	0	0	0	0	0	0	1	11158	1538	54	4		4	OR52H1	11	5565851	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09		5565851	129440665	158	6004											
TSG101	7251	genome.wustl.edu	37	chr11	18537669	18537669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tataaggcacagggattgttCcagtgaggttcattagttcc	10	13	11	7	0	1	1	1	1	0	0	3	2	3	2	2	3	0	4	2	3	3	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:18537669C>G	ENST00000251968.3	-	3	585	c.170G>C	c.(169-171)gGa>gCa	p.G57A	TSG101_ENST00000543087.1_5'Flank|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Missense_Mutation_p.G57A	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	57	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AGGGATTGTTCCAGTGAGGTT	0.338																																					GBM(99;1348 1396 8611 26475 50572)												0													86	84	85					11																	18537669		2199	4293	6492	SO:0001583	missense	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.170G>C	11.37:g.18537669C>G	ENSP00000251968:p.Gly57Ala		Q9BUM5	Missense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.G57A	ENST00000251968.3	37	c.170	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.309763	0.95629	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	D;D	0.92647	-3.08;-2.99	5.67	5.67	0.87782	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	10	0.87932	D	0	-4.9352	20.1243	0.97973	0.0:1.0:0.0:0.0	.	57	Q99816	TS101_HUMAN	A	57	ENSP00000438471:G57A;ENSP00000251968:G57A	ENSP00000251968:G57A	G	-	2	0	TSG101	18494245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.501000	0.81600	2.823000	0.97156	0.591000	0.81541	GGA	TSG101	-	pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000074319		0.338	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	-	0	35	0	C	NM_006292		18537669	-1	tier1	-	no_errors	ENST00000251968	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G	G	18537669	C	G	18537669	3	3	22	1	0	0	0	0	1	0	0	0	16664	855	30	5	1034	5	TSG101	11	18537669	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	12971818	18537669	116468847	159	6005											
IGSF22	283284	genome.wustl.edu	37	chr11	18733790	18733790	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcctatcttaatccaggacTtcttgccaactgccctccgt	7	12	6	16	2	2	0	0	0	2	0	4	1	4	1	5	1	3	0	5	1	3	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:18733790T>G	ENST00000513874.1	-	15	2376	c.2237A>C	c.(2236-2238)aAg>aCg	p.K746T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	745	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AATCCAGGACTTCTTGCCAAC	0.527																																																	0													159	129	138					11																	18733790		692	1591	2283	SO:0001583	missense	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2237A>C	11.37:g.18733790T>G	ENSP00000421191:p.Lys746Thr		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K746T	ENST00000513874.1	37	c.2237	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	t	13.00	2.105783	0.37145	.	.	ENSG00000179057	ENST00000513874	T	0.56611	0.45	4.24	3.11	0.35812	.	.	.	.	.	T	0.22475	0.0542	N	0.02539	-0.55	0.21527	N	0.99966	B	0.21606	0.058	B	0.25614	0.062	T	0.24905	-1.0147	9	0.15066	T	0.55	.	3.6544	0.08215	0.0:0.2028:0.1939:0.6034	.	746	D6RGV7	.	T	746	ENSP00000421191:K746T	ENSP00000421191:K746T	K	-	2	0	IGSF22	18690366	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	1.781000	0.38644	0.694000	0.31654	-0.262000	0.10625	AAG	IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000179057		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	-	0	84	0	T	NM_173588		18733790	-1	tier1	-	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	37.21	54	32	SNP	0.974	G	G	18733790	T	G	18733790	3	3	22	1	0	0	0	0	1	0	0	0	7627	1609	56	4	1779	4	IGSF22	11	18733790	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	196121	18733790	116272726	160	6006											
ANO3	63982	genome.wustl.edu	37	chr11	26563506	26563506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgcagggagcctacaaaAgtagccagcccattaaaacc	14	7	9	11	0	0	0	0	0	0	0	0	1	0	1	4	1	6	3	4	1	6	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:26563506A>C	ENST00000256737.3	+	11	1897	c.1045A>C	c.(1045-1047)Agt>Cgt	p.S349R	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.S203R|ANO3_ENST00000525139.1_Missense_Mutation_p.S333R|ANO3_ENST00000537978.1_Missense_Mutation_p.S333R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	349					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGCCTACAAAAGTAGCCAGCC	0.398																																																	0													66	63	64					11																	26563506		2203	4299	6502	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1045A>C	11.37:g.26563506A>C	ENSP00000256737:p.Ser349Arg		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.S349R	ENST00000256737.3	37	c.1045	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250970	0.59212	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.43152	1.355	0.80722	D	1	P;D	0.62365	0.955;0.991	P;D	0.64321	0.873;0.924	T	0.62923	-0.6751	10	0.11182	T	0.66	.	15.3535	0.74409	1.0:0.0:0.0:0.0	.	251;349	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	R	333;333;349;251;203	ENSP00000440737:S333R;ENSP00000432576:S333R;ENSP00000256737:S349R;ENSP00000432394:S203R	ENSP00000256737:S349R	S	+	1	0	ANO3	26520082	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.260000	0.95568	2.034000	0.60081	0.460000	0.39030	AGT	ANO3	-	NULL	ENSG00000134343		0.398	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	-	0	25	0	A	NM_031418		26563506	1	tier1	-	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C	C	26563506	A	C	26563506	3	2	22	1	0	0	0	0	1	0	0	0	698	72	3	4	1087	4	ANO3	11	26563506	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	7829716	26563506	108443010	161	6007											
LRRC4C	57689	genome.wustl.edu	37	chr11	40136104	40136104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggcaggtggctttccatgGgtgtgtctcccgtaatctca	5	13	13	10	1	2	0	1	0	2	0	5	0	3	0	2	4	0	3	2	4	1	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:40136104G>C	ENST00000278198.2	-	2	3702	c.1739C>G	c.(1738-1740)cCc>cGc	p.P580R	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P580R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P580R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P580R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	580					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P580R(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTTTCCATGGGTGTGTCTCC	0.453																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											219	212	215					11																	40136104		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1739C>G	11.37:g.40136104G>C	ENSP00000278198:p.Pro580Arg		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P580R	ENST00000278198.2	37	c.1739	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362960	0.24684	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.17	6.17	0.99709	.	0.055857	0.64402	D	0.000001	T	0.24967	0.0606	N	0.19112	0.55	0.43988	D	0.996681	B	0.27498	0.18	B	0.20767	0.031	T	0.03095	-1.1073	10	0.59425	D	0.04	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	580	Q9HCJ2	LRC4C_HUMAN	R	580	ENSP00000278198:P580R;ENSP00000436976:P580R;ENSP00000437132:P580R;ENSP00000434761:P580R	ENSP00000278198:P580R	P	-	2	0	LRRC4C	40092680	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.042000	0.64202	2.941000	0.99782	0.655000	0.94253	CCC	LRRC4C	-	NULL	ENSG00000148948		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	73	0	G	NM_020929		40136104	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	22.02	85	24	SNP	1.000	C	C	40136104	G	C	40136104	3	2	22	1	0	0	0	0	1	0	0	0	9043	1232	43	5	187	5	LRRC4C	11	40136104	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	13572598	40136104	94870412	162	6008											
LRRC4C	57689	genome.wustl.edu	37	chr11	40136422	40136422	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggagtgggacccacattgTtatctgtggtccgtgcctca	6	12	12	11	1	2	0	1	0	1	0	3	2	3	2	3	3	1	1	3	3	1	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:40136422T>G	ENST00000278198.2	-	2	3384	c.1421A>C	c.(1420-1422)aAc>aCc	p.N474T	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N474T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N474T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N474T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	474					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCCACATTGTTATCTGTGGT	0.507																																																	0													126	113	118					11																	40136422		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1421A>C	11.37:g.40136422T>G	ENSP00000278198:p.Asn474Thr		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.N474T	ENST00000278198.2	37	c.1421	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	T	2.714	-0.268076	0.05716	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.84	3.48	0.39840	.	0.391289	0.29876	N	0.010965	T	0.19366	0.0465	N	0.01048	-1.04	0.26961	N	0.965819	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	10	0.14252	T	0.57	.	8.1043	0.30877	0.0:0.0689:0.392:0.5391	.	474	Q9HCJ2	LRC4C_HUMAN	T	474	ENSP00000278198:N474T;ENSP00000436976:N474T;ENSP00000437132:N474T;ENSP00000434761:N474T	ENSP00000278198:N474T	N	-	2	0	LRRC4C	40092998	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	3.543000	0.53633	0.445000	0.26639	-0.313000	0.08912	AAC	LRRC4C	-	NULL	ENSG00000148948		0.507	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	72	0	T	NM_020929		40136422	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	23.40	72	22	SNP	1.000	G	G	40136422	T	G	40136422	3	3	22	1	0	0	0	0	1	0	0	0	9043	1725	60	4	505	4	LRRC4C	11	40136422	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	318	40136422	94870094	163	6009											
MADD	8567	genome.wustl.edu	37	chr11	47305736	47305736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactctgcagtggcagtGatagtatggattatgacgat	10	13	11	7	1	2	2	1	2	1	0	2	4	2	3	0	2	1	3	0	2	3	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:47305736G>T	ENST00000311027.5	+	11	2035	c.1870G>T	c.(1870-1872)Gat>Tat	p.D624Y	MADD_ENST00000395344.3_Missense_Mutation_p.D624Y|MADD_ENST00000395336.3_Missense_Mutation_p.D624Y|MADD_ENST00000349238.3_Missense_Mutation_p.D624Y|MADD_ENST00000407859.3_Missense_Mutation_p.D624Y|MADD_ENST00000342922.4_Missense_Mutation_p.D624Y|MADD_ENST00000402799.1_Missense_Mutation_p.D624Y|MADD_ENST00000406482.1_Missense_Mutation_p.D624Y|MADD_ENST00000402192.2_Missense_Mutation_p.D624Y	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGTGGCAGTGATAGTATGGA	0.418																																																	0													163	145	151					11																	47305736		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1870G>T	11.37:g.47305736G>T	ENSP00000310933:p.Asp624Tyr			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D624Y	ENST00000311027.5	37	c.1870	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859742	0.91433	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.08193	3.18;3.14;3.14;3.19;3.2;3.13;3.12;3.2;3.18	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.983;1.0;1.0;0.995;0.999;0.991;1.0;0.998;0.999	D;P;D;D;D;D;D;D;D;D	0.91635	0.984;0.901;0.998;0.999;0.954;0.986;0.983;0.999;0.979;0.998	T	0.01165	-1.1431	10	0.87932	D	0	-12.5466	20.5948	0.99439	0.0:0.0:1.0:0.0	.	624;624;624;624;624;624;624;624;624;624	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Y	624	ENSP00000343902:D624Y;ENSP00000385585:D624Y;ENSP00000384435:D624Y;ENSP00000304505:D624Y;ENSP00000310933:D624Y;ENSP00000384204:D624Y;ENSP00000378753:D624Y;ENSP00000378745:D624Y;ENSP00000384287:D624Y	ENSP00000310933:D624Y	D	+	1	0	MADD	47262312	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.195000	0.94971	2.873000	0.98535	0.563000	0.77884	GAT	MADD	-	NULL	ENSG00000110514		0.418	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	-	0	49	0	G			47305736	1	tier1	-	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	47305736	G	T	47305736	3	4	22	1	0	0	0	0	1	0	0	0	9188	1290	45	3	1908	3	MADD	11	47305736	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	7169314	47305736	87700780	164	6010											
OR4C46	119749	genome.wustl.edu	37	chr11	51515371	51515371	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatatttgttgtgtttttTgtcatctatatcatcactgt	8	22	5	6	0	5	0	4	0	1	0	5	0	5	0	0	0	0	2	0	0	3	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:51515371T>C	ENST00000328188.1	+	1	90	c.90T>C	c.(88-90)ttT>ttC	p.F30F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTGTGTTTTTTGTCATCTATA	0.433																																																	0													198	187	191					11																	51515371		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.90T>C	11.37:g.51515371T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F30	ENST00000328188.1	37	c.90	CCDS31498.1	11																																																																																			OR4C46	-	prints_GPCR_Rhodpsn	ENSG00000185926		0.433	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	-	0	61	0	T	NM_001004703		51515371	1	tier1	-	no_errors	ENST00000328188	ensembl	human	known	74_37	silent	21.43	55	15	SNP	0.000	C	C	51515371	T	C	51515371	2	2	22	1	0	0	0	0	0	0	0	1	11090	1809	63	4		4	OR4C46	11	51515371	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	4209635	51515371	83491145	165	6011											
OR4C11	219429	genome.wustl.edu	37	chr11	55371556	55371556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaatgtagtgcaaagacTtgtgtcatgcactcattgta	14	13	8	6	0	2	1	2	0	0	1	2	1	2	1	0	0	2	4	0	0	6	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:55371556T>C	ENST00000302231.4	-	1	318	c.294A>G	c.(292-294)caA>caG	p.Q98Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GTGCAAAGACTTGTGTCATGC	0.423																																																	0													108	92	97					11																	55371556		2179	4005	6184	SO:0001819	synonymous_variant	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.294A>G	11.37:g.55371556T>C			B9EIL4|Q8NGL8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q98	ENST00000302231.4	37	c.294	CCDS31503.1	11																																																																																			OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172188		0.423	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	-	0	32	0	T	NM_001004700		55371556	-1	tier1	-	no_errors	ENST00000302231	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.966	C	C	55371556	T	C	55371556	2	2	22	1	0	0	0	0	0	0	0	1	11084	1606	56	4		4	OR4C11	11	55371556	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	3856185	55371556	79634960	166	6012											
OR5D14	219436	genome.wustl.edu	37	chr11	55563202	55563202	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagattaaccccaaattTcacactcctatgtacttttt	13	15	2	11	0	2	1	2	0	0	1	3	1	3	1	3	0	2	1	3	0	5	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:55563202T>C	ENST00000335605.1	+	1	171	c.171T>C	c.(169-171)ttT>ttC	p.F57F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACCCCAAATTTCACACTCCTA	0.393																																																	0													226	209	215					11																	55563202		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.171T>C	11.37:g.55563202T>C			Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F57	ENST00000335605.1	37	c.171	CCDS31508.1	11																																																																																			OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.393	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0	89	0	T	NM_001004735		55563202	1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	silent	16.98	132	27	SNP	0.316	C	C	55563202	T	C	55563202	2	2	22	1	0	0	0	0	0	0	0	1	11194	1780	62	4		4	OR5D14	11	55563202	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	191646	55563202	79443314	167	6013											
OR5D14	219436	genome.wustl.edu	37	chr11	55563513	55563513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttggccccttggtacTcctttgttatgctctccggt	3	17	9	12	1	1	0	0	0	1	0	3	0	2	0	4	3	2	4	4	3	2	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:55563513T>A	ENST00000335605.1	+	1	482	c.482T>A	c.(481-483)cTc>cAc	p.L161H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCCTTGGTACTCCTTTGTTAT	0.478																																																	0													173	169	170					11																	55563513		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.482T>A	11.37:g.55563513T>A	ENSP00000334456:p.Leu161His		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L161H	ENST00000335605.1	37	c.482	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	t	0	-2.659871	0.00107	.	.	ENSG00000186113	ENST00000335605	T	0.00017	9.09	5.08	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	N	0.001038	T	0.00039	0.0001	N	0.01779	-0.725	0.09310	N	1	B	0.19445	0.036	B	0.24006	0.05	T	0.21211	-1.0252	10	0.02654	T	1	-27.458	6.7265	0.23359	0.1491:0.0:0.1542:0.6967	.	161	Q8NGL3	OR5DE_HUMAN	H	161	ENSP00000334456:L161H	ENSP00000334456:L161H	L	+	2	0	OR5D14	55320089	0.001000	0.12720	0.011000	0.14972	0.003000	0.03518	0.741000	0.26202	1.916000	0.55485	0.523000	0.50628	CTC	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0	113	0	T	NM_001004735		55563513	1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	8.54	150	14	SNP	0.000	A	A	55563513	T	A	55563513	3	1	22	1	0	0	0	0	1	0	0	0	11194	1551	54	5	484	5	OR5D14	11	55563513	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	311	55563513	79443003	168	6014											
OR8K1	390157	genome.wustl.edu	37	chr11	56114008	56114008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtttgtgtcactatttcTcacaattaagttatttaaac	12	17	4	8	1	2	0	2	0	1	0	3	0	2	0	0	0	1	2	0	0	6	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:56114008T>C	ENST00000279783.2	+	1	588	c.494T>C	c.(493-495)cTc>cCc	p.L165P		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCACTATTTCTCACAATTAAG	0.388										HNSCC(65;0.19)																																							0													165	168	167					11																	56114008		2201	4296	6497	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.494T>C	11.37:g.56114008T>C	ENSP00000279783:p.Leu165Pro		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L165P	ENST00000279783.2	37	c.494	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629756	0.28978	.	.	ENSG00000150261	ENST00000279783	T	0.00207	8.55	5.0	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.362396	0.20437	N	0.092348	T	0.00178	0.0005	N	0.17312	0.475	0.19775	N	0.999951	D	0.55172	0.97	P	0.53266	0.722	T	0.51513	-0.8696	10	0.62326	D	0.03	-9.6528	3.2035	0.06657	0.2864:0.1853:0.0:0.5283	.	165	Q8NGG5	OR8K1_HUMAN	P	165	ENSP00000279783:L165P	ENSP00000279783:L165P	L	+	2	0	OR8K1	55870584	0.000000	0.05858	0.002000	0.10522	0.500000	0.33767	0.085000	0.14912	0.746000	0.32786	0.448000	0.29417	CTC	OR8K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000150261		0.388	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	-	0	62	0	T	NM_001002907		56114008	1	tier1	-	no_errors	ENST00000279783	ensembl	human	known	74_37	missense	26.39	53	19	SNP	0.000	C	C	56114008	T	C	56114008	3	2	22	1	0	0	0	0	1	0	0	0	11282	1551	54	4	496	4	OR8K1	11	56114008	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	550495	56114008	78892508	169	6015											
RIN1	9610	genome.wustl.edu	37	chr11	66101564	66101564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccggggccctgggcccGggccaggcggaggccctcag	3	3	19	16	3	1	0	1	0	0	0	2	1	2	1	5	8	0	1	5	8	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:66101564G>A	ENST00000311320.4	-	7	1543	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Intron|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.R368W	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	473	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCCTGGGCCCGGGCCAGGCGG	0.726																																																	0													5	6	5					11																	66101564		2042	4021	6063	SO:0001583	missense	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1417C>T	11.37:g.66101564G>A	ENSP00000310406:p.Arg473Trp		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R473W	ENST00000311320.4	37	c.1417	CCDS31614.1	11	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183588	0.57800	.	.	ENSG00000174791	ENST00000311320;ENST00000424433	T;T	0.33216	1.42;1.42	4.34	3.35	0.38373	Vacuolar sorting protein 9 (1);	0.163982	0.44097	D	0.000492	T	0.48466	0.1501	M	0.65975	2.015	0.33429	D	0.580903	D	0.76494	0.999	D	0.68353	0.957	T	0.62305	-0.6882	10	0.72032	D	0.01	-27.6091	10.0444	0.42177	0.0:0.0:0.7997:0.2003	.	473	Q13671	RIN1_HUMAN	W	473;368	ENSP00000310406:R473W;ENSP00000400560:R368W	ENSP00000310406:R473W	R	-	1	2	RIN1	65858140	0.839000	0.29477	1.000000	0.80357	0.507000	0.33981	0.687000	0.25407	2.141000	0.66446	0.455000	0.32223	CGG	RIN1	-	pfscan_VPS9	ENSG00000174791		0.726	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0	19	0	G	NM_004292		66101564	-1	tier1	-	no_errors	ENST00000311320	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	A	A	66101564	G	A	66101564	3	1	22	1	0	0	0	0	1	0	0	0	13416	1115	39	1	950	1	RIN1	11	66101564	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	9987556	66101564	68904952	170	6016											
RBM4	5936	genome.wustl.edu	37	chr11	66411053	66411053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatagatcgttcaggccGcgtggcagacttgaccgagc	8	8	13	12	5	1	3	1	1	0	2	3	5	2	3	3	2	1	2	3	2	1	3	rs376809532	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:66411053G>T	ENST00000409406.1	+	2	1322	c.545G>T	c.(544-546)cGc>cTc	p.R182L	RBM4_ENST00000408993.2_Missense_Mutation_p.R182L|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.R182L|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.R157L|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.R182L|RBM4_ENST00000514361.3_Missense_Mutation_p.R157L			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTTCAGGCCGCGTGGCAGAC	0.557																																																	0													72	79	77					11																	66411053		2194	4292	6486	SO:0001583	missense	0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.545G>T	11.37:g.66411053G>T	ENSP00000386894:p.Arg182Leu		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.R182L	ENST00000409406.1	37	c.545	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450404	0.43531	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.50813	0.73;1.54;1.54;1.54;1.54	6.06	6.06	0.98353	.	0.700022	0.13989	U	0.348901	T	0.41511	0.1162	L	0.44542	1.39	0.39966	D	0.974733	P;B	0.41498	0.752;0.124	B;B	0.37047	0.24;0.037	T	0.25641	-1.0126	10	0.21540	T	0.41	-3.8978	16.1209	0.81357	0.0:0.0:1.0:0.0	.	157;182	B0LM41;Q9BWF3	.;RBM4_HUMAN	L	157;182;182;182;182;182	ENSP00000388552:R157L;ENSP00000425760:R182L;ENSP00000309166:R182L;ENSP00000386561:R182L;ENSP00000386894:R182L	ENSP00000388552:R157L	R	+	2	0	RBM4;RBM14-RBM4	66167629	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.414000	0.59802	2.882000	0.98803	0.655000	0.94253	CGC	RBM4	-	NULL	ENSG00000173933		0.557	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1		0	40	0	G	NM_002896		66411053	1			no_errors	ENST00000310092	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	66411053	G	T	66411053	3	4	22	1	0	0	0	0	1	0	0	0	13179	1087	38	2	551	2	RBM4	11	66411053	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	309489	66411053	68595463	171	6017											
MYEOV	26579	genome.wustl.edu	37	chr11	69063273	69063273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagggtgcccagacaggtgCggggctcagccaggaggcag	9	3	18	11	1	1	1	1	0	0	1	1	2	1	2	2	6	3	2	2	6	1	0	rs199794039		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:69063273C>T	ENST00000308946.3	+	3	806	c.356C>T	c.(355-357)gCg>gTg	p.A119V	MYEOV_ENST00000441339.2_Missense_Mutation_p.A119V|MYEOV_ENST00000535407.1_Missense_Mutation_p.A61V	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	119										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CAGACAGGTGCGGGGCTCAGC	0.602													c|||	1	0.000199681	0	0	5008	,	,		17996	0		0.001	False		,,,				2504	0																0													105	103	103					11																	69063273		2200	4294	6494	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.356C>T	11.37:g.69063273C>T	ENSP00000308330:p.Ala119Val		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.A119V	ENST00000308946.3	37	c.356	CCDS8190.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	9.910	1.209385	0.22289	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.24151	1.88;1.88;1.87	1.08	-2.16	0.07080	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24693	-1.0153	9	0.87932	D	0	.	4.9243	0.13885	0.0:0.2288:0.0:0.7712	.	119	Q96EZ4	MYEOV_HUMAN	V	119;119;61	ENSP00000412482:A119V;ENSP00000308330:A119V;ENSP00000438100:A61V	ENSP00000308330:A119V	A	+	2	0	MYEOV	68819849	0.000000	0.05858	0.034000	0.17996	0.082000	0.17680	-1.838000	0.01687	-0.655000	0.05387	-1.667000	0.00748	GCG	MYEOV	-	NULL	ENSG00000172927		0.602	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1		0	66	0	C			69063273	1			no_errors	ENST00000308946	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.046	T	T	69063273	C	T	69063273	3	4	22	1	0	0	0	0	1	0	0	0	10063	768	27	1	362	1	MYEOV	11	69063273	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	2652220	69063273	65943243	172	6018											
SHANK2	22941	genome.wustl.edu	37	chr11	70331764	70331764	+	Frame_Shift_Del	DEL	G	G	-																															tttttggcttaggaggtactGggggtttgtcaaccataaat																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:70331764delG	ENST00000423696.2	-	15	3533	c.3497delC	c.(3496-3498)ccafs	p.P1166fs	SHANK2_ENST00000338508.4_Frame_Shift_Del_p.P1546fs|SHANK2_ENST00000449833.2_Frame_Shift_Del_p.P950fs|SHANK2_ENST00000409161.1_Frame_Shift_Del_p.P949fs			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1166					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGAGGTACTGGGGGTTTGTC	0.478																																																	0													143	136	138					11																	70331764		2200	4294	6494	SO:0001589	frameshift_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3497delC	11.37:g.70331764delG	ENSP00000394536:p.Pro1166fs		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1546fs	ENST00000423696.2	37	c.4637		11																																																																																			SHANK2	-	NULL	ENSG00000162105		0.478	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0	29	0	G	NM_012309		70331764	-1	tier1		no_errors	ENST00000338508	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.976	-	-	70331764	G	-	70331764	7	5	22	1	0	1	0	1	0	0	0	0	14310	1348	47	0	923	0	SHANK2	11	70331764	Frame_Shift_Del	DEL	G	TCGA-IG-A4QS-01A-11D-A27G-09	1268491	70331764	64674752	173	6019											
MOGAT2	80168	genome.wustl.edu	37	chr11	75439077	75439077	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggaagggtggcggaaacTtgctgggcatcattgtaggg	10	8	17	6	1	1	0	1	0	0	0	1	2	1	2	0	6	2	3	0	6	3	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:75439077T>A	ENST00000198801.5	+	4	608	c.538T>A	c.(538-540)Ttg>Atg	p.L180M	MOGAT2_ENST00000526712.1_Missense_Mutation_p.L98M	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	180					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGGCGGAAACTTGCTGGGCAT	0.572																																																	0													77	69	72					11																	75439077		2200	4293	6493	SO:0001583	missense	0			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.538T>A	11.37:g.75439077T>A	ENSP00000198801:p.Leu180Met		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	pfam_DAGAT	p.L180M	ENST00000198801.5	37	c.538	CCDS8240.1	11	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487255	0.63962	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14022	2.54;2.54	5.67	0.71	0.18157	.	0.281222	0.35235	N	0.003354	T	0.24392	0.0591	L	0.53249	1.67	0.30539	N	0.766658	P;D	0.67145	0.953;0.996	P;D	0.71870	0.905;0.975	T	0.05632	-1.0873	10	0.54805	T	0.06	-7.4387	6.3039	0.21127	0.0:0.4892:0.1481:0.3627	.	180;180	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	M	180;98	ENSP00000198801:L180M;ENSP00000436283:L98M	ENSP00000198801:L180M	L	+	1	2	MOGAT2	75116725	0.176000	0.23096	0.043000	0.18650	0.746000	0.42486	-0.009000	0.12765	0.209000	0.20645	0.459000	0.35465	TTG	MOGAT2	-	pfam_DAGAT	ENSG00000166391		0.572	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT2	HGNC	protein_coding	OTTHUMT00000383520.1		0	35	0	T	NM_025098		75439077	1			no_errors	ENST00000198801	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.949	A	A	75439077	T	A	75439077	3	1	22	1	0	0	0	0	1	0	0	0	9733	1606	56	5	552	5	MOGAT2	11	75439077	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	5107313	75439077	59567439	174	6020											
GUCY1A2	2977	genome.wustl.edu	37	chr11	106680972	106680972	+	Frame_Shift_Del	DEL	T	T	-																															tctcttcttccagggcctggTgagttctttctaaagttgcc																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:106680972delT	ENST00000526355.2	-	5	1907	c.1439delA	c.(1438-1440)cacfs	p.H480fs	GUCY1A2_ENST00000282249.2_Frame_Shift_Del_p.H480fs|GUCY1A2_ENST00000347596.2_Frame_Shift_Del_p.H501fs	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	480					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CAGGGCCTGGTGAGTTCTTTC	0.448																																																	0													127	131	130					11																	106680972		2201	4298	6499	SO:0001589	frameshift_variant	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1439delA	11.37:g.106680972delT	ENSP00000431245:p.His480fs		A1L4C4|B7ZLT5	Frame_Shift_Del	DEL	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.H480fs	ENST00000526355.2	37	c.1439	CCDS8335.1	11																																																																																			GUCY1A2	-	pfam_Haem_no_assoc-bd	ENSG00000152402		0.448	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2		0	54	0	T			106680972	-1	tier1		no_errors	ENST00000282249	ensembl	human	known	74_37	frame_shift_del	44.23	29	23	DEL	1.000	-	-	106680972	T	-	106680972	7	5	22	1	0	1	0	1	0	0	0	0	6920	1696	59	0	775	0	GUCY1A2	11	106680972	Frame_Shift_Del	DEL	T	TCGA-IG-A4QS-01A-11D-A27G-09	31241895	106680972	28325544	175	6021											
CWF19L2	143884	genome.wustl.edu	37	chr11	107326458	107326458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcctcaccccgaagtcgCttaagttctttacgcctttc	7	14	6	14	3	2	0	1	0	1	0	5	1	3	0	4	0	1	3	4	0	4	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:107326458C>A	ENST00000282251.5	-	2	177	c.150G>T	c.(148-150)aaG>aaT	p.K50N	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K50N	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	50							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCCGAAGTCGCTTAAGTTCTT	0.393																																																	0													275	223	239					11																	107326458		692	1591	2283	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.150G>T	11.37:g.107326458C>A	ENSP00000282251:p.Lys50Asn		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.K50N	ENST00000282251.5	37	c.150	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563974	0.65651	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23950	1.88;1.88	5.4	1.1	0.20463	.	.	.	.	.	T	0.42063	0.1186	M	0.70595	2.14	0.29676	N	0.842079	D	0.76494	0.999	P	0.61874	0.895	T	0.35798	-0.9774	9	0.72032	D	0.01	.	7.2805	0.26308	0.0:0.531:0.0:0.469	.	50	Q2TBE0	C19L2_HUMAN	N	50	ENSP00000282251:K50N;ENSP00000387533:K50N	ENSP00000282251:K50N	K	-	3	2	CWF19L2	106831668	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.268000	0.18571	-0.067000	0.12976	0.585000	0.79938	AAG	CWF19L2	-	NULL	ENSG00000152404		0.393	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0	34	0	C	NM_152434		107326458	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	A	A	107326458	C	A	107326458	3	1	22	1	0	0	0	0	1	0	0	0	4081	796	28	3	2602	3	CWF19L2	11	107326458	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	645486	107326458	27680058	176	6022											
ANKK1	255239	genome.wustl.edu	37	chr11	113264253	113264253	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccaaaatgaagaagatcaAgtttcagcacatcgtgtcta	15	10	8	8	1	3	3	2	1	1	2	4	3	3	3	1	0	2	2	1	0	6	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:113264253A>C	ENST00000303941.3	+	2	330	c.236A>C	c.(235-237)aAg>aCg	p.K79T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AAGAAGATCAAGTTTCAGCAC	0.498																																																	0													108	106	107					11																	113264253		1970	4165	6135	SO:0001583	missense	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.236A>C	11.37:g.113264253A>C	ENSP00000306678:p.Lys79Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.K79T	ENST00000303941.3	37	c.236	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070942	0.55646	.	.	ENSG00000170209	ENST00000303941	T	0.35789	1.29	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	T	0.50599	0.1625	L	0.41079	1.255	0.50313	D	0.999864	D	0.89917	1.0	D	0.97110	1.0	T	0.53056	-0.8492	10	0.72032	D	0.01	-33.1751	13.7415	0.62852	1.0:0.0:0.0:0.0	.	79	Q8NFD2	ANKK1_HUMAN	T	79	ENSP00000306678:K79T	ENSP00000306678:K79T	K	+	2	0	ANKK1	112769463	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	6.559000	0.73946	2.016000	0.59253	0.379000	0.24179	AAG	ANKK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000170209		0.498	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0	78	0	A	NM_178510		113264253	1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	14.06	55	9	SNP	1.000	C	C	113264253	A	C	113264253	3	2	22	1	0	0	0	0	1	0	0	0	631	72	3	4	242	4	ANKK1	11	113264253	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	5937795	113264253	21742263	177	6023											
TMPRSS5	80975	genome.wustl.edu	37	chr11	113568120	113568120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttccagcaagaagtcttCgctgtttattctgaaagata	11	13	8	9	2	2	3	0	1	2	2	4	3	3	3	1	0	1	4	1	0	5	6	rs371934092		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:113568120C>T	ENST00000299882.5	-	5	497	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.E73K|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.E117K|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.E73K|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.E108K	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	117	SRCR.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AAGAAGTCTTCGCTGTTTATT	0.567																																																	0								C	LYS/GLU	0,4038		0,0,2019	36	38	38		349	2	0.5	11		38	1,8409		0,1,4204	no	missense	TMPRSS5	NM_030770.2	56	0,1,6223	TT,TC,CC		0.0119,0.0,0.0080	benign	117/458	113568120	1,12447	2019	4205	6224	SO:0001583	missense	0			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.349G>A	11.37:g.113568120C>T	ENSP00000299882:p.Glu117Lys			Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E117K	ENST00000299882.5	37	c.349	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	C	6.733	0.503999	0.12822	0.0	1.19E-4	ENSG00000166682	ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.31	1.98	0.26296	Speract/scavenger receptor (1);Speract/scavenger receptor-related (1);	0.327534	0.28677	N	0.014510	T	0.44371	0.1290	M	0.67953	2.075	0.09310	N	1	B;B;B	0.16396	0.007;0.017;0.011	B;B;B	0.09377	0.003;0.004;0.004	T	0.20974	-1.0259	10	0.11182	T	0.66	.	3.0715	0.06233	0.0:0.4661:0.2269:0.307	.	117;108;117	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	K	117;108;73;117;73	ENSP00000299882:E117K;ENSP00000441104:E108K;ENSP00000445528:E73K;ENSP00000440783:E117K;ENSP00000445930:E73K	ENSP00000299882:E117K	E	-	1	0	TMPRSS5	113073330	0.025000	0.19082	0.548000	0.28192	0.008000	0.06430	1.718000	0.38001	0.606000	0.29965	-1.259000	0.01468	GAA	TMPRSS5	-	superfamily_Srcr_rcpt-rel	ENSG00000166682		0.567	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	HGNC	protein_coding	OTTHUMT00000398652.1	-	0	19	0	C	NM_030770		113568120	-1	tier1	-	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	29.17	34	14	SNP	0.162	T	T	113568120	C	T	113568120	3	4	22	1	0	0	0	0	1	0	0	0	16297	893	31	1	1060	1	TMPRSS5	11	113568120	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	303867	113568120	21438396	178	6024											
DSCAML1	57453	genome.wustl.edu	37	chr11	117376309	117376309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctctcgatggtcacgcccGagcctgagatgatcacctgt	7	10	11	13	3	3	2	2	2	1	1	4	5	3	2	3	1	2	1	3	1	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:117376309G>A	ENST00000321322.6	-	9	2103	c.2102C>T	c.(2101-2103)tCg>tTg	p.S701L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S431L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	641	Ig-like C2-type 8.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTCACGCCCGAGCCTGAGAT	0.572																																																	0													203	151	168					11																	117376309		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2102C>T	11.37:g.117376309G>A	ENSP00000315465:p.Ser701Leu		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S701L	ENST00000321322.6	37	c.2102	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	11.84	1.760123	0.31137	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.73681	-0.77;-0.77	5.06	4.15	0.48705	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61337	0.2339	L	0.28344	0.845	0.49213	D	0.999766	B	0.06786	0.001	B	0.11329	0.006	T	0.55231	-0.8173	9	0.25106	T	0.35	.	13.1494	0.59480	0.0763:0.0:0.9237:0.0	.	641	Q8TD84	DSCL1_HUMAN	L	431;701;408	ENSP00000434335:S431L;ENSP00000315465:S701L	ENSP00000315465:S701L	S	-	2	0	DSCAML1	116881519	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.634000	0.67833	1.353000	0.45828	0.491000	0.48974	TCG	DSCAML1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.572	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	80	0	G	NM_020693		117376309	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	15.15	84	15	SNP	0.996	A	A	117376309	G	A	117376309	3	1	22	1	0	0	0	0	1	0	0	0	4783	1059	37	1	4339	1	DSCAML1	11	117376309	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	3808189	117376309	17630207	179	6025											
BCL9L	283149	genome.wustl.edu	37	chr11	118772171	118772171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggccccatgggtgggtccaCctccctcagcccagactgcc	5	7	11	18	0	1	1	1	0	0	1	3	1	3	1	7	3	2	0	7	3	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:118772171C>A	ENST00000334801.3	-	6	3245	c.2281G>T	c.(2281-2283)Gtg>Ttg	p.V761L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	761	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGGGTCCACCTCCCTCAGC	0.617																																																	0													136	84	102					11																	118772171		2200	4294	6494	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2281G>T	11.37:g.118772171C>A	ENSP00000335320:p.Val761Leu		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.V761L	ENST00000334801.3	37	c.2281	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	C	4.519	0.096339	0.08681	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78003	-1.14	4.44	4.44	0.53790	.	0.158928	0.29198	N	0.012845	T	0.56688	0.2002	N	0.20685	0.6	0.32557	N	0.531565	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.53315	-0.8456	10	0.02654	T	1	-23.9247	8.9346	0.35691	0.0:0.8574:0.0:0.1426	.	756;761	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	L	761;724;54;761;761	ENSP00000335320:V761L	ENSP00000335320:V761L	V	-	1	0	BCL9L	118277381	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.766000	0.38491	2.292000	0.77174	0.313000	0.20887	GTG	BCL9L	-	NULL	ENSG00000186174		0.617	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0	70	0	C	NM_182557		118772171	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	missense	7.89	70	6	SNP	1.000	A	A	118772171	C	A	118772171	3	1	22	1	0	0	0	0	1	0	0	0	1383	507	18	3	2230	3	BCL9L	11	118772171	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	1395862	118772171	16234345	180	6026											
HMBS	3145	genome.wustl.edu	37	chr11	118960710	118960710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcccccaggcgggaaaacCctcatgatgctgttgtcttt	7	11	9	14	1	2	1	1	1	1	0	3	2	3	2	4	2	2	2	4	2	2	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:118960710C>A	ENST00000278715.3	+	7	506	c.355C>A	c.(355-357)Cct>Act	p.P119T	HMBS_ENST00000392841.1_Missense_Mutation_p.P102T|HMBS_ENST00000442944.2_Missense_Mutation_p.P102T|HMBS_ENST00000537841.1_Missense_Mutation_p.P102T|HMBS_ENST00000542729.1_Missense_Mutation_p.P102T|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.P119T|HMBS_ENST00000543090.1_Missense_Mutation_p.P101T	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	119			P -> L (in AIP). {ECO:0000269|PubMed:8825929, ECO:0000269|PubMed:9225970}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GCGGGAAAACCCTCATGATGC	0.502																																																	0													89	94	93					11																	118960710		2200	4295	6495	SO:0001583	missense	0			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"uroporphyrinogen I synthase", "porphobilinogen deaminase", "porphyria, acute; Chester type"	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.355C>A	11.37:g.118960710C>A	ENSP00000278715:p.Pro119Thr		A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth	p.P119T	ENST00000278715.3	37	c.355	CCDS8409.1	11	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858958	0.91433	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000536813;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D;D	0.99727	-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55	6.17	6.17	0.99709	Porphobilinogen deaminase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.87381	2.88	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.842;1.0	D;D;D;P;D	0.97110	0.999;0.999;0.999;0.868;1.0	D	0.97942	1.0326	10	0.87932	D	0	-16.4589	19.8676	0.96824	0.0:1.0:0.0:0.0	.	102;102;101;119;119	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	T	119;113;102;102;93;119;101;102;102;102;102	ENSP00000278715:P119T;ENSP00000438726:P113T;ENSP00000444730:P102T;ENSP00000443058:P102T;ENSP00000445599:P93T;ENSP00000438424:P119T;ENSP00000445429:P101T;ENSP00000440092:P102T;ENSP00000442079:P102T;ENSP00000376584:P102T;ENSP00000392041:P102T	ENSP00000392041:P102T	P	+	1	0	CTD-2589C9.4;HMBS	118465920	1.000000	0.71417	0.952000	0.39060	0.614000	0.37383	7.578000	0.82498	2.941000	0.99782	0.655000	0.94253	CCT	HMBS	-	pfam_Porphobilin_deaminase_N,pirsf_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth	ENSG00000256269		0.502	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMBS	HGNC	protein_coding	OTTHUMT00000399188.1	-	0	67	0	C	NM_000190		118960710	1	tier1	-	no_errors	ENST00000278715	ensembl	human	known	74_37	missense	10.11	80	9	SNP	1.000	A	A	118960710	C	A	118960710	3	1	22	1	0	0	0	0	1	0	0	0	7246	623	22	3	381	3	HMBS	11	118960710	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	188539	118960710	16045806	181	6027											
TECTA	7007	genome.wustl.edu	37	chr11	120998499	120998499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcttcagccactactccGtgtgcacaagcagctgcccc	8	7	9	17	2	1	0	1	0	0	0	2	1	2	0	4	0	7	4	4	0	2	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:120998499G>A	ENST00000392793.1	+	9	2084	c.1813G>A	c.(1813-1815)Gtg>Atg	p.V605M	TECTA_ENST00000264037.2_Missense_Mutation_p.V605M			O75443	TECTA_HUMAN	tectorin alpha	605	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCACTACTCCGTGTGCACAAG	0.637																																																	0													63	64	64					11																	120998499		2203	4298	6501	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1813G>A	11.37:g.120998499G>A	ENSP00000376543:p.Val605Met			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.V605M	ENST00000392793.1	37	c.1813	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174299	0.78452	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.90620	-2.7;-2.7	5.52	4.6	0.57074	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.063428	0.64402	D	0.000007	D	0.93697	0.7986	L	0.53729	1.69	0.46981	D	0.999272	D	0.76494	0.999	D	0.69824	0.966	D	0.93944	0.7226	10	0.54805	T	0.06	.	16.599	0.84804	0.0:0.1305:0.8695:0.0	.	605	O75443	TECTA_HUMAN	M	605	ENSP00000376543:V605M;ENSP00000264037:V605M	ENSP00000264037:V605M	V	+	1	0	TECTA	120503709	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	6.452000	0.73485	1.444000	0.47605	0.655000	0.94253	GTG	TECTA	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000109927		0.637	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	69	0	G	NM_005422		120998499	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	A	A	120998499	G	A	120998499	3	1	22	1	0	0	0	0	1	0	0	0	15794	1145	40	1	1843	1	TECTA	11	120998499	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	2037789	120998499	14008017	182	6028											
OR10G4	390264	genome.wustl.edu	37	chr11	123886648	123886648	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtcctatgatcgctacTtggccatcagttacccgctc	7	13	7	14	2	2	1	2	1	0	0	5	1	3	1	3	1	2	3	3	1	3	4	rs397832341	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:123886648T>C	ENST00000320891.4	+	1	367	c.367T>C	c.(367-369)Ttg>Ctg	p.L123L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGATCGCTACTTGGCCATCAG	0.567													t|||	2	0.000399361	8e-04	0	5008	,	,		23929	0		0	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.367T>C	11.37:g.123886648T>C			Q6IEW0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L123	ENST00000320891.4	37	c.367	CCDS31702.1	11																																																																																			OR10G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000254737		0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	-	0	84	0	T	NM_001004462		123886648	1	tier1	-	no_errors	ENST00000320891	ensembl	human	known	74_37	silent	33.33	50	25	SNP	0.994	C	C	123886648	T	C	123886648	2	2	22	1	0	0	0	0	0	0	0	1	10940	1606	56	4		4	OR10G4	11	123886648	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	2888149	123886648	11119868	183	6029											
WNK1	65125	genome.wustl.edu	37	chr12	1005335	1005335	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacctcagagtcctcagtGctatcaagtagtagtccaga	12	9	9	11	0	3	2	3	0	0	2	5	2	5	2	3	0	2	4	3	0	4	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:1005335G>T	ENST00000315939.6	+	24	6325	c.5682G>T	c.(5680-5682)gtG>gtT	p.V1894V	WNK1_ENST00000530271.2_Silent_p.V2392V|WNK1_ENST00000535572.1_Silent_p.V1646V|WNK1_ENST00000537687.1_Silent_p.V2154V|WNK1_ENST00000340908.4_Silent_p.V1487V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1894					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.V2154V(1)|p.V1894V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTCCTCAGTGCTATCAAGTA	0.468																																					Colon(19;451 567 6672 12618 28860)												2	Substitution - coding silent(2)	lung(2)											86	85	85					12																	1005335		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5682G>T	12.37:g.1005335G>T			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V2392	ENST00000315939.6	37	c.7176	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1		0	46	0	G	NM_018979		1005335	1			no_errors	ENST00000530271	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.001	T	T	1005335	G	T	1005335	2	4	22	1	0	0	0	0	0	0	0	1	17426	1306	46	3		3	WNK1	12	1005335	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		1005335	132846560	184	6030											
KCNA1	3736	genome.wustl.edu	37	chr12	5021058	5021058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagggtcatcgccatcGtctccgtcatggtcatcctc	5	10	9	17	4	4	0	3	0	1	0	9	0	5	0	5	2	0	0	5	2	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:5021058G>A	ENST00000382545.3	+	2	1621	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	172					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CATCGCCATCGTCTCCGTCAT	0.632																																																	0													86	85	85					12																	5021058		2203	4300	6503	SO:0001583	missense	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.514G>A	12.37:g.5021058G>A	ENSP00000371985:p.Val172Ile		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.V172I	ENST00000382545.3	37	c.514	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459319	0.26248	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.76060	-0.99	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.48260	1.515	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.62115	-0.6922	10	0.16420	T	0.52	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	172	Q09470	KCNA1_HUMAN	I	172	ENSP00000371985:V172I	ENSP00000228858:V172I	V	+	1	0	KCNA1	4891319	1.000000	0.71417	0.980000	0.43619	0.955000	0.61496	3.066000	0.50002	2.606000	0.88127	0.655000	0.94253	GTC	KCNA1	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000111262		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	-	0	40	0	G	NM_000217		5021058	1	tier1	-	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.996	A	A	5021058	G	A	5021058	3	1	22	1	0	0	0	0	1	0	0	0	8028	1145	40	1	516	1	KCNA1	12	5021058	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	4015723	5021058	128830837	185	6031											
KLRG1	10219	genome.wustl.edu	37	chr12	9144868	9144868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcttctgactgcagttcTtctgagtgtgctgctatacc	5	14	12	10	0	3	2	0	2	3	0	3	2	3	2	1	2	4	5	1	2	2	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:9144868T>C	ENST00000266551.4	+	2	164	c.149T>C	c.(148-150)cTt>cCt	p.L50P	KLRG1_ENST00000356986.3_Missense_Mutation_p.L50P|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000538029.1_Intron	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	50					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						ACTGCAGTTCTTCTGAGTGTG	0.413																																																	0													239	222	228					12																	9144868		2203	4300	6503	SO:0001583	missense	0			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.149T>C	12.37:g.9144868T>C	ENSP00000266551:p.Leu50Pro		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L50P	ENST00000266551.4	37	c.149		12	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137564	0.56936	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.18810	2.19;2.19	3.69	3.69	0.42338	.	0.000000	0.38492	N	0.001665	T	0.30355	0.0762	L	0.29908	0.895	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.03453	-1.1035	10	0.62326	D	0.03	-5.5069	9.0362	0.36289	0.0:0.0:0.0:1.0	.	50;50	Q96E93;Q96E93-2	KLRG1_HUMAN;.	P	50	ENSP00000349477:L50P;ENSP00000266551:L50P	ENSP00000266551:L50P	L	+	2	0	KLRG1	9036135	0.688000	0.27680	0.657000	0.29651	0.167000	0.22549	2.679000	0.46909	1.900000	0.55004	0.379000	0.24179	CTT	KLRG1	-	NULL	ENSG00000139187		0.413	KLRG1-002	KNOWN	basic	protein_coding	KLRG1	HGNC	protein_coding	OTTHUMT00000399145.1	-	0	49	0	T	NM_005810		9144868	1	tier1	-	no_errors	ENST00000266551	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.724	C	C	9144868	T	C	9144868	3	2	22	1	0	0	0	0	1	0	0	0	8448	1609	56	4	155	4	KLRG1	12	9144868	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	4123810	9144868	124707027	186	6032											
LST-3TM12	338821	genome.wustl.edu	37	chr12	21207483	21207483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagatgatgcttgtacaaGgaaatcttacgtttattttg	13	15	9	4	1	1	2	0	1	1	1	1	4	1	3	0	1	3	3	0	1	6	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:21207483G>T	ENST00000421593.2	+	10	1454	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	LST3_ENST00000381541.3_Missense_Mutation_p.R532M|RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R532M|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	485						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R485M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCTTGTACAAGGAAATCTTAC	0.393																																																	1	Substitution - Missense(1)	lung(1)											106	115	112					12																	21207483		2193	4299	6492	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1454G>T	12.37:g.21207483G>T	ENSP00000394168:p.Arg485Met		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R532M	ENST00000421593.2	37	c.1595	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	5.884	0.347203	0.11126	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.39787	1.06;1.06;1.06	2.95	-5.91	0.02269	.	0.985258	0.08326	N	0.963040	T	0.34745	0.0908	L	0.56769	1.78	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.31869	0.085;0.137	T	0.43426	-0.9392	10	0.59425	D	0.04	.	3.5194	0.07736	0.6254:0.1247:0.1314:0.1184	.	485;532	G3V0H7;F5H094	.;.	M	532;532;485	ENSP00000370952:R532M;ENSP00000452013:R532M;ENSP00000394168:R485M	ENSP00000370952:R532M	R	+	2	0	SLCO1B7;RP11-545J16.1	21098750	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.452000	0.02385	-2.161000	0.00785	-0.351000	0.07748	AGG	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.393	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	-	0	79	0	G	NM_001009562		21207483	1	tier1	-	no_errors	ENST00000554957	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.000	T	T	21207483	G	T	21207483	3	4	22	1	0	0	0	0	1	0	0	0	9101	1000	35	3	1492	3	LST-3TM12	12	21207483	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	12062615	21207483	112644412	187	6033											
LST-3TM12	338821	genome.wustl.edu	37	chr12	21243002	21243002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacttagaattcttaaacGacagtgaacattttgtacct	15	13	5	8	1	1	2	0	1	1	1	1	3	1	2	1	0	4	1	1	0	7	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:21243002G>A	ENST00000421593.2	+	13	1885	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	LST3_ENST00000381541.3_Missense_Mutation_p.D676N|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D676N|LST3_ENST00000540229.1_Missense_Mutation_p.D737N|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D737N	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	629						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D629N(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTCTTAAACGACAGTGAACA	0.303																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)											42	44	44					12																	21243002		2082	4250	6332	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"Solute carriers"	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1885G>A	12.37:g.21243002G>A	ENSP00000394168:p.Asp629Asn		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.D737N	ENST00000421593.2	37	c.2209	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.887545	0.00527	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.36340	1.4;1.31;1.4;1.31;1.26	2.46	1.24	0.21308	.	2.386710	0.01432	N	0.014789	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.24905	-1.0147	10	0.02654	T	1	.	4.2689	0.10776	0.8294:0.0:0.1706:0.0	.	629;676;737	G3V0H7;F5H094;Q5JAR4	.;.;.	N	737;676;737;676;629	ENSP00000451758:D737N;ENSP00000370952:D676N;ENSP00000441269:D737N;ENSP00000452013:D676N;ENSP00000394168:D629N	ENSP00000370952:D676N	D	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134269	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.758000	0.26447	0.366000	0.24427	-0.431000	0.05894	GAC	SLCO1B3	-	NULL	ENSG00000111700		0.303	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000402066.1	-	0	40	0	G	NM_001009562		21243002	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.002	A	A	21243002	G	A	21243002	3	1	22	1	0	0	0	0	1	0	0	0	9101	1058	37	1	1935	1	LST-3TM12	12	21243002	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	35519	21243002	112608893	188	6034											
CNTN1	1272	genome.wustl.edu	37	chr12	41316209	41316209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgggatggtcagaagcactGaagcaaccctgagctttgga	12	7	13	9	1	1	3	1	2	0	1	1	5	1	5	1	3	4	3	1	3	3	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:41316209G>A	ENST00000551295.2	+	5	496	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CNTN1_ENST00000547702.1_Missense_Mutation_p.E127K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E127K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E127K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E116K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E127K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	127	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGAAGCACTGAAGCAACCCT	0.403																																																	0													111	100	103					12																	41316209		2203	4300	6503	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.379G>A	12.37:g.41316209G>A	ENSP00000447006:p.Glu127Lys		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E127K	ENST00000551295.2	37	c.379	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.059552	0.93846	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.65	4.75	0.60458	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048893	0.85682	N	0.000000	T	0.28466	0.0704	L	0.56340	1.77	0.54753	D	0.999982	D;D;D	0.67145	0.996;0.979;0.983	P;P;P	0.60886	0.788;0.81;0.88	T	0.01290	-1.1394	10	0.36615	T	0.2	.	14.7892	0.69827	0.0696:0.0:0.9304:0.0	.	127;116;127	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	127;127;127;127;127;116	ENSP00000448004:E127K;ENSP00000447006:E127K;ENSP00000448653:E127K;ENSP00000325660:E127K;ENSP00000353213:E127K;ENSP00000261160:E116K	ENSP00000325660:E127K	E	+	1	0	CNTN1	39602476	1.000000	0.71417	0.835000	0.33067	0.963000	0.63663	9.230000	0.95299	1.523000	0.49018	0.585000	0.79938	GAA	CNTN1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000018236		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2		0	19	0	G	NM_001843		41316209	1			no_errors	ENST00000347616	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.997	A	A	41316209	G	A	41316209	3	1	22	1	0	0	0	0	1	0	0	0	3647	1291	45	3	393	3	CNTN1	12	41316209	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	20073207	41316209	92535686	189	6035											
TMEM5	10329	genome.wustl.edu	37	chr12	64174918	64174918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatccacgaaaggaaaaacaGatctcagtgtacaaatctgg	18	7	8	8	1	2	1	1	0	2	1	4	3	3	2	1	2	2	1	1	2	6	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:64174918G>A	ENST00000261234.6	+	2	447	c.289G>A	c.(289-291)Gat>Aat	p.D97N	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	97						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGGAAAAACAGATCTCAGTGT	0.328																																																	0													76	84	82					12																	64174918		2203	4300	6503	SO:0001583	missense	0			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.289G>A	12.37:g.64174918G>A	ENSP00000261234:p.Asp97Asn		A8K017|Q6PKD6	Missense_Mutation	SNP	pfam_Exostosin	p.D97N	ENST00000261234.6	37	c.289	CCDS8966.1	12	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073730	0.20147	.	.	ENSG00000118600	ENST00000261234	T	0.29655	1.56	4.34	1.33	0.21861	.	0.679416	0.15610	N	0.253407	T	0.21022	0.0506	L	0.34521	1.04	0.23243	N	0.998056	B	0.30281	0.275	B	0.33890	0.172	T	0.20974	-1.0259	9	.	.	.	-26.0342	6.7192	0.23321	0.1003:0.3449:0.5548:0.0	.	97	Q9Y2B1	TMEM5_HUMAN	N	97	ENSP00000261234:D97N	.	D	+	1	0	TMEM5	62461185	0.988000	0.35896	0.209000	0.23619	0.291000	0.27294	1.141000	0.31528	0.141000	0.18875	-0.479000	0.04858	GAT	TMEM5	-	NULL	ENSG00000118600		0.328	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM5	HGNC	protein_coding	OTTHUMT00000400821.1	-	0	16	0	G	NM_014254		64174918	1	tier1	-	no_errors	ENST00000261234	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.318	A	A	64174918	G	A	64174918	3	1	22	1	0	0	0	0	1	0	0	0	16221	942	33	3	295	3	TMEM5	12	64174918	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	22858709	64174918	69676977	190	6036											
PPFIA2	8499	genome.wustl.edu	37	chr12	81675120	81675120	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcatctaccaagcatTccataaagtaacttctgtac	12	14	4	11	0	3	0	0	0	3	0	4	0	4	0	2	0	5	4	2	0	6	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:81675120T>G	ENST00000549396.1	-	27	3288	c.3128A>C	c.(3127-3129)gAa>gCa	p.E1043A	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E1043A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E579A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E890A|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E942A|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E229A|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1028A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1037A|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E938A|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1022A|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1028A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1043	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TACCAAGCATTCCATAAAGTA	0.393																																																	0													105	100	102					12																	81675120		1839	4097	5936	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3128A>C	12.37:g.81675120T>G	ENSP00000450337:p.Glu1043Ala		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E1043A	ENST00000549396.1	37	c.3128	CCDS55857.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.656469|4.656469	0.88154|0.88154	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72827|0.72827	0.3509|0.3509	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	D|.	0.77004|.	0.989|.	T|T	0.72643|0.72643	-0.4231|-0.4231	10|5	0.72032|.	D|.	0.01|.	-20.5676|-20.5676	15.7394|15.7394	0.77876|0.77876	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1043|.	O75334|.	LIPA2_HUMAN|.	A|H	1043;1028;579;229;942;1054;1028;1037;938;1022|146	ENSP00000450337:E1043A;ENSP00000450298:E1028A;ENSP00000438337:E579A;ENSP00000445532:E229A;ENSP00000385093:E942A;ENSP00000327416:E1028A;ENSP00000449338:E1037A;ENSP00000388373:E938A;ENSP00000447868:E1022A|.	ENSP00000327416:E1028A|.	E|N	-|-	2|1	0|0	PPFIA2|PPFIA2	80199251|80199251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.941000|7.941000	0.87700|0.87700	2.183000|2.183000	0.69458|0.69458	0.397000|0.397000	0.26171|0.26171	GAA|AAT	PPFIA2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000139220		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	28	0	T			81675120	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	G	G	81675120	T	G	81675120	3	3	22	1	0	0	0	0	1	0	0	0	12349	1783	62	4	669	4	PPFIA2	12	81675120	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	17500202	81675120	52176775	191	6037											
DCN	1634	genome.wustl.edu	37	chr12	91552198	91552198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaattccttcagctgattcTtggacagataaagtcgttcc	10	13	8	10	1	2	2	1	1	1	1	5	3	4	3	2	1	1	3	2	1	3	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:91552198T>C	ENST00000052754.5	-	4	914	c.413A>G	c.(412-414)aAg>aGg	p.K138R	DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.K138R|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.K138R|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000228329.5_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	138					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CAGCTGATTCTTGGACAGATA	0.403																																																	0													139	134	135					12																	91552198		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.413A>G	12.37:g.91552198T>C	ENSP00000052754:p.Lys138Arg		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.K138R	ENST00000052754.5	37	c.413	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530791	0.45073	.	.	ENSG00000011465	ENST00000052754;ENST00000393155;ENST00000552962;ENST00000547937;ENST00000552145;ENST00000550563	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.69	5.69	0.88448	.	0.042962	0.85682	D	0.000000	T	0.31765	0.0807	N	0.02721	-0.515	0.80722	D	1	B	0.16396	0.017	B	0.20384	0.029	T	0.14172	-1.0482	10	0.37606	T	0.19	.	16.0168	0.80445	0.0:0.0:0.0:1.0	.	138	P07585	PGS2_HUMAN	R	138	ENSP00000052754:K138R;ENSP00000376862:K138R;ENSP00000447654:K138R;ENSP00000449782:K138R;ENSP00000447886:K138R;ENSP00000449014:K138R	ENSP00000052754:K138R	K	-	2	0	DCN	90076329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.760000	0.62235	2.194000	0.70268	0.529000	0.55759	AAG	DCN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.403	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0	44	0	T	NM_133507		91552198	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	22.22	49	14	SNP	1.000	C	C	91552198	T	C	91552198	3	2	22	1	0	0	0	0	1	0	0	0	4306	1609	56	4	686	4	DCN	12	91552198	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	9877078	91552198	42299697	192	6038											
UBE2N	7334	genome.wustl.edu	37	chr12	93804925	93804925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggctgccattgggtattCttctggaaggaatagttcaa	10	12	13	6	0	3	0	1	0	2	0	3	2	3	2	1	5	1	3	1	5	5	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:93804925C>T	ENST00000318066.2	-	2	558	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	UBE2N_ENST00000550657.1_Missense_Mutation_p.E61K|UBE2N_ENST00000549833.1_5'UTR|UBE2N_ENST00000552442.1_Missense_Mutation_p.E61K	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	61					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|liver(2)|lung(5)	10						ATTGGGTATTCTTCTGGAAGG	0.408								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)												0													90	89	89					12																	93804925		2203	4300	6503	SO:0001583	missense	0			D83004	CCDS31875.1	12q22	2011-05-19	2011-05-19			ENSG00000177889		"Ubiquitin-conjugating enzymes E2"	12492	protein-coding gene	gene with protein product		603679	"ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)", "ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"			8902611	Standard	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	P61088	OTTHUMG00000170156	ENST00000318066.2:c.181G>A	12.37:g.93804925C>T	ENSP00000316176:p.Glu61Lys		Q16781|Q53Y81	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E61K	ENST00000318066.2	37	c.181	CCDS31875.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347138	0.82022	.	.	ENSG00000177889	ENST00000318066;ENST00000550657;ENST00000552442	T;T;T	0.72835	-0.69;-0.69;-0.69	5.94	5.94	0.96194	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.43919	U	0.000509	T	0.71888	0.3393	M	0.69248	2.105	0.80722	D	1	B	0.33318	0.408	B	0.30943	0.122	T	0.73091	-0.4092	10	0.87932	D	0	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	61	P61088	UBE2N_HUMAN	K	61	ENSP00000316176:E61K;ENSP00000449352:E61K;ENSP00000448352:E61K	ENSP00000316176:E61K	E	-	1	0	UBE2N	92329056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.659000	0.83766	2.820000	0.97059	0.650000	0.86243	GAA	UBE2N	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000177889		0.408	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2N	HGNC	protein_coding	OTTHUMT00000407710.1	-	0	38	0	C	NM_003348		93804925	-1	tier1	-	no_errors	ENST00000318066	ensembl	human	known	74_37	missense	49.18	31	30	SNP	1.000	T	T	93804925	C	T	93804925	3	4	22	1	0	0	0	0	1	0	0	0	16915	922	32	3	289	3	UBE2N	12	93804925	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	2252727	93804925	40046970	193	6039											
FAM71C	196472	genome.wustl.edu	37	chr12	100043066	100043066	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttatttgttctctccctagGgatatgccatgaagttttgt	7	18	8	8	0	1	1	0	1	1	0	3	2	2	2	2	1	1	2	2	1	4	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:100043066G>A	ENST00000324341.1	+	2	1038	c.616G>A	c.(616-618)Gga>Aga	p.G206R	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	206										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTCTCCCTAGGGATATGCCAT	0.373																																																	0													157	153	154					12																	100043066		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.616-1G>A	12.37:g.100043066G>A			B2R6Y6	Missense_Mutation	SNP	pfam_DUF3699	p.G206R	ENST00000324341.1	37	c.616	CCDS9072.1	12	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025742	0.19512	.	.	ENSG00000180219	ENST00000324341	T	0.09255	3.0	3.56	0.601	0.17529	.	2.150120	0.02300	N	0.071058	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.31943	-0.9925	9	.	.	.	0.6869	2.8293	0.05495	0.2441:0.0:0.5346:0.2213	.	206	Q8NEG0	FA71C_HUMAN	R	206	ENSP00000315247:G206R	.	G	+	1	0	FAM71C	98567197	0.060000	0.20803	0.002000	0.10522	0.032000	0.12392	0.178000	0.16820	0.117000	0.18138	0.650000	0.86243	GGA	FAM71C	-	NULL	ENSG00000180219		0.373	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	HGNC	protein_coding	OTTHUMT00000408458.1	-	0	47	0	G	NM_153364	Missense_Mutation	100043066	1	tier1	-	no_errors	ENST00000324341	ensembl	human	known	74_37	missense	12.82	68	10	SNP	0.003	A	A	100043066	G	A	100043066	5	1	22	1	0	0	0	0	0	0	1	0	5631	1246	43	3	622	3	FAM71C	12	100043066	Splice_Site	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	6238141	100043066	33808829	194	6040											
UBE3B	89910	genome.wustl.edu	37	chr12	109937476	109937476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccctcagccccagagtgTtagaggaggagacagatggg	10	6	15	10	0	1	4	1	0	0	4	2	6	2	5	3	3	1	2	3	3	1	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:109937476T>A	ENST00000342494.3	+	12	1574	c.979T>A	c.(979-981)Tta>Ata	p.L327I	UBE3B_ENST00000434735.2_Missense_Mutation_p.L327I|UBE3B_ENST00000280774.5_Missense_Mutation_p.L327I	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCCAGAGTGTTAGAGGAGGA	0.557																																																	0													115	95	102					12																	109937476		2203	4300	6503	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.979T>A	12.37:g.109937476T>A	ENSP00000340596:p.Leu327Ile		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.L327I	ENST00000342494.3	37	c.979	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281200	0.80692	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.52057	1.09;0.68;1.33;1.09	5.64	-6.16	0.02098	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.71581	2.175	0.58432	D	0.999995	D	0.67145	0.996	P	0.61722	0.893	T	0.62186	-0.6907	10	0.39692	T	0.17	-1.558	11.186	0.48657	0.1013:0.6187:0.0:0.28	.	327	Q7Z3V4	UBE3B_HUMAN	I	327	ENSP00000391529:L327I;ENSP00000280774:L327I;ENSP00000443131:L327I;ENSP00000340596:L327I	ENSP00000280774:L327I	L	+	1	2	UBE3B	108421859	0.066000	0.20996	0.509000	0.27700	0.953000	0.61014	-0.068000	0.11561	-0.926000	0.03770	0.477000	0.44152	TTA	UBE3B	-	NULL	ENSG00000151148		0.557	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	-	0	65	0	T	NM_183415		109937476	1	tier1	-	no_errors	ENST00000342494	ensembl	human	known	74_37	missense	13.33	91	14	SNP	0.936	A	A	109937476	T	A	109937476	3	1	22	1	0	0	0	0	1	0	0	0	16929	1722	60	5	1017	5	UBE3B	12	109937476	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	9894410	109937476	23914419	195	6041											
SPATA13	221178	genome.wustl.edu	37	chr13	24863303	24863303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaagtgaaataggatcttGctttcttcaaaatgtgcgtc	11	15	8	7	1	3	1	1	1	2	0	4	2	3	2	0	1	2	1	0	1	5	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:24863303G>T	ENST00000382095.4	+	7	1366	c.959G>T	c.(958-960)tGc>tTc	p.C320F	SPATA13_ENST00000382108.3_Missense_Mutation_p.C945F|SPATA13_ENST00000424834.2_Missense_Mutation_p.C945F|SPATA13_ENST00000343003.6_Missense_Mutation_p.C264F|SPATA13_ENST00000409126.1_Missense_Mutation_p.C180F|SPATA13_ENST00000399949.2_Missense_Mutation_p.C242F|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.C823F	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	320	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATAGGATCTTGCTTTCTTCAA	0.338																																																	0													78	67	70					13																	24863303		2203	4300	6503	SO:0001583	missense	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.959G>T	13.37:g.24863303G>T	ENSP00000371527:p.Cys320Phe		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.C945F	ENST00000382095.4	37	c.2834	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.56|19.56	3.849781|3.849781	0.71603|0.71603	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003|ENST00000424834	T;T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86167|0.86167	0.5868|0.5868	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;0.998;1.0;0.999;0.998;0.999|.	D|D	0.89642|0.89642	0.3863|0.3863	10|5	0.54805|.	T|.	0.06|.	.|.	17.8062|17.8062	0.88601|0.88601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180;264;204;266;242;320|.	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96|.	.;.;.;.;.;SPT13_HUMAN|.	F|F	945;320;218;266;242;180;264|982	ENSP00000371542:C945F;ENSP00000371527:C320F;ENSP00000401605:C218F;ENSP00000382830:C242F;ENSP00000386471:C180F;ENSP00000343631:C264F|.	ENSP00000343631:C264F|.	C|L	+|+	2|3	0|2	SPATA13|SPATA13	23761303|23761303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	9.471000|9.471000	0.97696|0.97696	2.435000|2.435000	0.82474|0.82474	0.462000|0.462000	0.41574|0.41574	TGC|TTG	SPATA13	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000182957		0.338	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0	42	0	G	NM_153023		24863303	1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	24863303	G	T	24863303	3	4	22	1	0	0	0	0	1	0	0	0	15047	1319	46	3	2860	3	SPATA13	13	24863303	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		24863303	90306575	196	6042											
MTUS2	23281	genome.wustl.edu	37	chr13	29674973	29674973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccgaaatctggtctccGtcctcccggatactcacgtc	6	11	7	17	4	4	0	1	0	3	0	9	2	6	1	4	2	1	0	4	2	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:29674973G>A	ENST00000431530.3	+	3	2598	c.2540G>A	c.(2539-2541)cGt>cAt	p.R847H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	837	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTGGTCTCCGTCCTCCCGGA	0.493																																																	0													9	10	10					13																	29674973		1858	3986	5844	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2540G>A	13.37:g.29674973G>A	ENSP00000392057:p.Arg847His		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.R847H	ENST00000431530.3	37	c.2540	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	G	17.46	3.393945	0.62066	.	.	ENSG00000132938	ENST00000431530	T	0.47177	0.85	5.66	5.66	0.87406	.	0.076236	0.51477	D	0.000095	T	0.67933	0.2946	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.66468	-0.5916	9	.	.	.	.	18.7411	0.91773	0.0:0.0:1.0:0.0	.	837	Q5JR59	MTUS2_HUMAN	H	847	ENSP00000392057:R847H	.	R	+	2	0	MTUS2	28572973	1.000000	0.71417	0.661000	0.29709	0.040000	0.13550	8.901000	0.92560	2.670000	0.90874	0.563000	0.77884	CGT	MTUS2	-	NULL	ENSG00000132938		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	91	0	G	XM_166270		29674973	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.996	A	A	29674973	G	A	29674973	3	1	22	1	0	0	0	0	1	0	0	0	10004	1145	40	1	2550	1	MTUS2	13	29674973	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	4811670	29674973	85494905	197	6043											
SPG20	23111	genome.wustl.edu	37	chr13	36909527	36909527	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgcccctgcacttggAgttgaggtgtttccatttac	7	13	10	11	0	0	1	0	1	0	0	1	2	1	2	3	2	4	4	3	2	2	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:36909527A>G	ENST00000451493.1	-	2	658	c.441T>C	c.(439-441)acT>acC	p.T147T	SPG20_ENST00000355182.4_Silent_p.T147T|SPG20_ENST00000438666.2_Silent_p.T147T|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Silent_p.T147T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	147					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTGCACTTGGAGTTGAGGTGT	0.463																																																	0													53	56	55					13																	36909527		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"spartin"	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.441T>C	13.37:g.36909527A>G			O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.T147	ENST00000451493.1	37	c.441	CCDS9356.1	13																																																																																			SPG20	-	NULL	ENSG00000133104		0.463	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	-	0	34	0	A			36909527	-1	tier1	-	no_errors	ENST00000355182	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.000	G	G	36909527	A	G	36909527	2	3	22	1	0	0	0	0	0	0	0	1	15089	291	11	4		4	SPG20	13	36909527	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	7234554	36909527	78260351	198	6044											
SETDB2	83852	genome.wustl.edu	37	chr13	50050931	50050931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaactttttatttacagatAacttttctttcaatacctat	12	20	2	7	0	2	1	1	0	1	1	2	1	2	1	1	0	4	1	1	0	7	12			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:50050931A>G	ENST00000317257.8	+	7	1486	c.661A>G	c.(661-663)Aac>Gac	p.N221D	SETDB2_ENST00000354234.4_Missense_Mutation_p.N209D|SETDB2_ENST00000258672.5_Missense_Mutation_p.N209D	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	221	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ATTTACAGATAACTTTTCTTT	0.398																																																	0													109	111	111					13																	50050931		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.661A>G	13.37:g.50050931A>G	ENSP00000326477:p.Asn221Asp		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.N221D	ENST00000317257.8	37	c.661	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679197	0.68042	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;D	0.99353	-5.77;-5.77;-5.77	5.96	3.37	0.38596	Methyl-CpG DNA binding (3);DNA-binding, integrase-type (1);	0.290817	0.44483	D	0.000450	D	0.98858	0.9614	L	0.59436	1.845	0.36160	D	0.848054	P;D;D	0.67145	0.493;0.996;0.996	B;P;D	0.63192	0.167;0.857;0.912	D	0.99806	1.1038	10	0.27082	T	0.32	.	13.6307	0.62193	0.7929:0.2071:0.0:0.0	.	221;209;221	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	D	209;221;209	ENSP00000346175:N209D;ENSP00000326477:N221D;ENSP00000258672:N209D	ENSP00000258672:N209D	N	+	1	0	SETDB2	48948932	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	1.494000	0.35616	2.285000	0.76669	0.533000	0.62120	AAC	SETDB2	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000136169		0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0	40	0	A	NM_031915		50050931	1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	G	G	50050931	A	G	50050931	3	3	22	1	0	0	0	0	1	0	0	0	14184	362	13	4	683	4	SETDB2	13	50050931	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	13141404	50050931	65118947	199	6045											
PCDH17	27253	genome.wustl.edu	37	chr13	58208305	58208305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgcgctcctttaactTcgagcagaccaaggcttttg	7	11	9	14	3	0	1	0	0	0	1	2	2	1	1	3	1	3	3	3	1	2	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:58208305T>G	ENST00000377918.3	+	1	1651	c.1625T>G	c.(1624-1626)tTc>tGc	p.F542C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCTTTAACTTCGAGCAGACC	0.577																																					Melanoma(72;952 1291 1619 12849 33676)												0													48	47	47					13																	58208305		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1625T>G	13.37:g.58208305T>G	ENSP00000367151:p.Phe542Cys		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F542C	ENST00000377918.3	37	c.1625	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809931	0.50421	.	.	ENSG00000118946	ENST00000377918	T	0.51574	0.7	5.88	4.7	0.59300	Cadherin (5);Cadherin-like (1);	0.050653	0.85682	D	0.000000	T	0.57681	0.2070	M	0.64404	1.975	0.42485	D	0.992875	P;P	0.48911	0.775;0.917	P;P	0.54856	0.649;0.762	T	0.57376	-0.7822	9	.	.	.	.	12.1894	0.54261	0.8675:0.0:0.0:0.1325	.	542;542	O14917-2;O14917	.;PCD17_HUMAN	C	542	ENSP00000367151:F542C	.	F	+	2	0	PCDH17	57106306	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	7.485000	0.81204	1.045000	0.40225	-0.527000	0.04329	TTC	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000118946		0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	39	0	T	NM_001040429		58208305	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	G	G	58208305	T	G	58208305	3	3	22	1	0	0	0	0	1	0	0	0	11551	1783	62	4	1627	4	PCDH17	13	58208305	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	8157374	58208305	56961573	200	6046											
SLITRK5	26050	genome.wustl.edu	37	chr13	88328683	88328683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgcgccccacctctcGgcagccctctaaggacttgg	6	7	12	16	2	2	0	0	0	2	0	3	1	2	1	4	4	2	1	4	4	1	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:88328683G>A	ENST00000325089.6	+	2	1259	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R106Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	347					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCACCTCTCGGCAGCCCTCT	0.592																																																	0													60	62	61					13																	88328683		2203	4299	6502	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1040G>A	13.37:g.88328683G>A	ENSP00000366283:p.Arg347Gln		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R347Q	ENST00000325089.6	37	c.1040	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303711	0.40795	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59906	0.23;0.55	5.85	5.85	0.93711	.	0.060206	0.64402	D	0.000005	T	0.49321	0.1550	L	0.59436	1.845	0.41113	D	0.985756	P;B	0.48294	0.908;0.425	B;B	0.37091	0.241;0.154	T	0.53507	-0.8429	9	.	.	.	-15.249	11.0032	0.47618	0.0838:0.0:0.9162:0.0	.	106;347	B4DSH5;O94991	.;SLIK5_HUMAN	Q	347;106	ENSP00000366283:R347Q;ENSP00000442244:R106Q	.	R	+	2	0	SLITRK5	87126684	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.473000	0.73572	2.771000	0.95319	0.561000	0.74099	CGG	SLITRK5	-	NULL	ENSG00000165300		0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	18	0	G			88328683	1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	A	A	88328683	G	A	88328683	3	1	22	1	0	0	0	0	1	0	0	0	14791	1116	39	1	1042	1	SLITRK5	13	88328683	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	30120378	88328683	26841195	201	6047											
DNAJC3	5611	genome.wustl.edu	37	chr13	96409994	96409994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgttcacaagcacttaacGcttttggaagtggagattat	11	13	10	7	2	1	1	1	0	0	1	1	3	1	2	0	2	3	3	0	2	4	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:96409994G>A	ENST00000602402.1	+	5	607	c.490G>A	c.(490-492)Gct>Act	p.A164T	DNAJC3_ENST00000376795.6_Intron	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	164					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGCACTTAACGCTTTTGGAAG	0.378																																																	0													131	125	127					13																	96409994		2203	4300	6503	SO:0001583	missense	0			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.490G>A	13.37:g.96409994G>A	ENSP00000473631:p.Ala164Thr		Q86WT9|Q8N4N2	Missense_Mutation	SNP	pfam_TPR_1,pfam_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A164T	ENST00000602402.1	37	c.490	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333831	0.24253	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.7	4.84	0.62591	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.428060	0.29459	N	0.012083	T	0.55705	0.1937	M	0.78285	2.405	0.43417	D	0.995567	P	0.41910	0.764	B	0.35655	0.207	T	0.57165	-0.7858	9	0.22706	T	0.39	-9.2098	14.3055	0.66382	0.0:0.0:0.8514:0.1486	.	164	Q13217	DNJC3_HUMAN	T	164	.	ENSP00000365991:A164T	A	+	1	0	DNAJC3	95207995	1.000000	0.71417	0.271000	0.24616	0.297000	0.27493	4.895000	0.63214	1.367000	0.46095	0.591000	0.81541	GCT	DNAJC3	-	pfscan_TPR-contain_dom	ENSG00000102580		0.378	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	-	0	50	0	G			96409994	1	tier1	-	no_errors	ENST00000602402	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.863	A	A	96409994	G	A	96409994	3	1	22	1	0	0	0	0	1	0	0	0	4661	1087	38	1	508	1	DNAJC3	13	96409994	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	8081311	96409994	18759884	202	6048											
TMTC4	84899	genome.wustl.edu	37	chr13	101278362	101278362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgatggcagctgtctGgttgcctttatcagccaggt	6	14	12	9	0	3	1	1	1	2	0	3	1	3	1	2	3	3	4	2	3	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:101278362G>T	ENST00000376234.3	-	12	1681	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	TMTC4_ENST00000342624.5_Missense_Mutation_p.Q517K|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.Q387K	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	498						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGCTGTCTGGTTGCCTTTA	0.438																																																	0													125	117	120					13																	101278362		2203	4300	6503	SO:0001583	missense	0				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1492C>A	13.37:g.101278362G>T	ENSP00000365408:p.Gln498Lys		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q517K	ENST00000376234.3	37	c.1549	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	G	7.770	0.707349	0.15239	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.59364	0.27;0.27;0.27	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.167038	0.53938	D	0.000048	T	0.34424	0.0897	N	0.02960	-0.455	0.40862	D	0.983842	B;B;B;B	0.14438	0.003;0.01;0.002;0.009	B;B;B;B	0.17433	0.008;0.018;0.017;0.003	T	0.29579	-1.0007	10	0.09843	T	0.71	.	19.3243	0.94254	0.0:0.0:1.0:0.0	.	387;498;498;517	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	K	498;517;387	ENSP00000365408:Q498K;ENSP00000343871:Q517K;ENSP00000365409:Q387K	ENSP00000365409:Q387K	Q	-	1	0	TMTC4	100076363	1.000000	0.71417	0.991000	0.47740	0.863000	0.49368	5.062000	0.64326	2.627000	0.88993	0.655000	0.94253	CAG	TMTC4	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000125247		0.438	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	-	0	44	0	G	NM_032813		101278362	-1	tier1	-	no_errors	ENST00000342624	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	101278362	G	T	101278362	3	4	22	1	0	0	0	0	1	0	0	0	16310	1357	47	3	761	3	TMTC4	13	101278362	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	4868368	101278362	13891516	203	6049											
CHMP4A	29082	genome.wustl.edu	37	chr14	24682715	24682715	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgctcctgggagggtgAtgtctcatcacacagggacc	7	9	13	12	0	2	1	2	1	1	0	4	3	3	3	3	3	1	1	3	3	0	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:24682715A>G	ENST00000609024.1	-	0	0				CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_Silent_p.H20H|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|MDP1_ENST00000532557.1_5'Flank			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A						endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TGGGAGGGTGATGTCTCATCA	0.657																																																	0													58	50	53					14																	24682715		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"Charged multivesicular body proteins"	20274	protein-coding gene	gene with protein product		610051	"chromosome 14 open reading frame 123", "chromatin modifying protein 4A"	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036		14.37:g.24682715A>G	Exception_encountered		Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	pfam_Snf7	p.H20	ENST00000609024.1	37	c.60		14																																																																																			CHMP4A	-	NULL	ENSG00000254505		0.657	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	CHMP4A	HGNC	protein_coding	OTTHUMT00000471846.1	-	0	41	0	A	NM_014169		24682715	-1	tier1	-	no_errors	ENST00000347519	ensembl	human	known	74_37	silent	19.40	54	13	SNP	0.000	G	G	24682715	A	G	24682715	1	3	22	0	1	0	0	0	0	0	0	0	3363	330	12	4		4	CHMP4A	14	24682715	5'Flank	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09		24682715	82666825	204	6050											
ADCY4	196883	genome.wustl.edu	37	chr14	24788372	24788372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttagaccccagggccacgGcaaattccaccatagtgcca	11	6	9	15	1	0	1	0	0	0	1	1	1	1	1	6	2	1	2	6	2	3	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:24788372G>A	ENST00000310677.4	-	24	3001	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V	ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V|ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	963					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGGGCCACGGCAAATTCCAC	0.592																																																	0													126	122	123					14																	24788372		2203	4300	6503	SO:0001583	missense	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2888C>T	14.37:g.24788372G>A	ENSP00000312126:p.Ala963Val		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A963V	ENST00000310677.4	37	c.2888	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662559	0.67700	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.58210	0.35;0.35;0.35	4.79	4.79	0.61399	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.151368	0.30840	N	0.008774	T	0.60843	0.2300	M	0.90082	3.085	0.80722	D	1	P	0.39624	0.681	B	0.36378	0.223	T	0.72308	-0.4332	10	0.72032	D	0.01	.	15.3891	0.74729	0.0:0.0:1.0:0.0	.	963	Q8NFM4	ADCY4_HUMAN	V	963	ENSP00000312126:A963V;ENSP00000452250:A963V;ENSP00000393177:A963V	ENSP00000312126:A963V	A	-	2	0	ADCY4	23858212	1.000000	0.71417	0.964000	0.40570	0.736000	0.42039	6.361000	0.73070	2.478000	0.83669	0.655000	0.94253	GCC	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000129467		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4		0	25	0	G			24788372	-1			no_errors	ENST00000310677	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	24788372	G	A	24788372	3	1	22	1	0	0	0	0	1	0	0	0	296	1203	42	3	357	3	ADCY4	14	24788372	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	105657	24788372	82561168	205	6051											
ADAM20	8748	genome.wustl.edu	37	chr14	70990815	70990816	+	Frame_Shift_Ins	INS	-	-	T																															cattactttgagagaaaagaINStatctaatattatccacgac																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:70990815_70990816insT	ENST00000256389.3	-	2	1053_1054	c.809_810insA	c.(808-810)tatfs	p.Y270fs	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	220	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGAGAAAAGATATCTAATATT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"ADAM metallopeptidase domain containing"	199	protein-coding gene	gene with protein product		603712	"a disintegrin and metalloproteinase domain 20"			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.810dupA	14.37:g.70990816_70990816dupT	ENSP00000256389:p.Tyr270fs		Q6GTZ1|Q9UKJ9	Frame_Shift_Ins	INS	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Y270fs	ENST00000256389.3	37	c.810_809	CCDS32111.1	14																																																																																			ADAM20	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134007		0.381	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2		0	13	0	-			70990816	-1	tier1		no_errors	ENST00000256389	ensembl	human	known	74_37	frame_shift_ins	21.05	15	4	INS	0.000:0.000	T	T	70990816	-	T	70990815	7	5	22	1	0	1	1	0	0	0	0	0	242	340	12	0	1524	0	ADAM20	14	70990815	Frame_Shift_Ins	INS	-	TCGA-IG-A4QS-01A-11D-A27G-09	46202443	70990815	36358725	206	6052											
C14orf43	91748	genome.wustl.edu	37	chr14	74193623	74193623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcagctgccagggcacGgtccctcatcaaggggattt	8	9	12	12	1	3	0	2	0	1	0	4	1	4	1	2	4	3	3	2	4	1	1	rs552919914		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:74193623G>A	ENST00000286523.5	-	6	2997	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R739C	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	739	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCCAGGGCACGGTCCCTCATC	0.622																																																	0													50	45	47					14																	74193623		2203	4300	6503	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2215C>T	14.37:g.74193623G>A	ENSP00000286523:p.Arg739Cys		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R739C	ENST00000286523.5	37	c.2215	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877725	0.72294	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.98	1.78	0.24846	ELM2 domain (2);	0.084418	0.47093	N	0.000253	T	0.51449	0.1675	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.98	T	0.56643	-0.7945	10	0.54805	T	0.06	-5.0463	14.9854	0.71345	0.0:0.0:0.5959:0.4041	.	739;739	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	739	ENSP00000377634:R739C;ENSP00000286523:R739C;ENSP00000407767:R739C;ENSP00000402380:R739C	ENSP00000286523:R739C	R	-	1	0	C14orf43	73263376	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	1.823000	0.39062	0.639000	0.30564	0.655000	0.94253	CGT	ELMSAN1	-	pfam_ELM2_dom,pfscan_ELM2_dom	ENSG00000156030		0.622	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0	59	0	G	NM_194278		74193623	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.997	A	A	74193623	G	A	74193623	3	1	22	1	0	0	0	0	1	0	0	0	1779	1116	39	1	950	1	C14orf43	14	74193623	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	3202808	74193623	33155917	207	6053											
STON2	85439	genome.wustl.edu	37	chr14	81743371	81743371	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacactagtggagccaaaacTtgccccccggttcactttgg	10	9	9	13	1	1	0	1	0	0	0	1	1	1	1	4	3	4	1	4	3	4	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:81743371T>G	ENST00000267540.2	-	4	2484	c.2284A>C	c.(2284-2286)Agt>Cgt	p.S762R	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.S762R	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	762	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GAGCCAAAACTTGCCCCCCGG	0.517																																																	0													100	106	104					14																	81743371		2203	4300	6503	SO:0001583	missense	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2284A>C	14.37:g.81743371T>G	ENSP00000267540:p.Ser762Arg		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S762R	ENST00000267540.2	37	c.2284	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892143	0.52014	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.12774	2.65;2.65	5.92	5.92	0.95590	Clathrin adaptor, mu subunit, C-terminal (3);	0.049293	0.85682	D	0.000000	T	0.23965	0.0580	L	0.35414	1.06	0.51767	D	0.999935	D;D	0.62365	0.991;0.989	P;P	0.62740	0.906;0.847	T	0.02844	-1.1103	10	0.19590	T	0.45	-16.2109	16.3648	0.83312	0.0:0.0:0.0:1.0	.	762;762	Q8WXE9;G3V2T7	STON2_HUMAN;.	R	762;774;762	ENSP00000450857:S762R;ENSP00000267540:S762R	ENSP00000267540:S762R	S	-	1	0	STON2	80813124	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.330000	0.72925	2.263000	0.75096	0.533000	0.62120	AGT	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C	ENSG00000140022		0.517	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	-	0	58	0	T	NM_033104		81743371	-1	tier1	-	no_errors	ENST00000267540	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	G	G	81743371	T	G	81743371	3	3	22	1	0	0	0	0	1	0	0	0	15365	1609	56	4	439	4	STON2	14	81743371	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	7549748	81743371	25606169	208	6054											
TRPM1	4308	genome.wustl.edu	37	chr15	31338420	31338420	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttacttccattcccagaAgtttaagagctttaggctgc	10	14	7	10	0	0	2	0	0	0	2	2	2	2	2	2	1	4	3	2	1	5	8			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:31338420A>C	ENST00000256552.6	-	16	1928	c.1781T>G	c.(1780-1782)cTt>cGt	p.L594R	TRPM1_ENST00000542188.1_Missense_Mutation_p.L611R|TRPM1_ENST00000397795.2_Missense_Mutation_p.L572R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATTCCCAGAAGTTTAAGAGC	0.318																																																	0													79	75	76					15																	31338420		1807	4081	5888	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1781T>G	15.37:g.31338420A>C	ENSP00000256552:p.Leu594Arg			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L611R	ENST00000256552.6	37	c.1832	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	A	17.85	3.491227	0.64074	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74737	-0.87;-0.87;-0.87	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	L	0.40543	1.245	0.80722	D	1	B;B	0.31174	0.311;0.102	B;B	0.35899	0.213;0.067	T	0.72547	-0.4260	10	0.87932	D	0	-16.9093	14.9754	0.71267	1.0:0.0:0.0:0.0	.	566;572	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	R	572;611;594;572	ENSP00000380897:L572R;ENSP00000437849:L611R;ENSP00000256552:L594R	ENSP00000256552:L594R	L	-	2	0	TRPM1	29125712	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.962000	0.93254	1.948000	0.56530	0.455000	0.32223	CTT	TRPM1	-	NULL	ENSG00000134160		0.318	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	9	0	A	NM_002420		31338420	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	60.00	4	6	SNP	1.000	C	C	31338420	A	C	31338420	3	2	22	1	0	0	0	0	1	0	0	0	16633	72	3	4	3148	4	TRPM1	15	31338420	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09		31338420	71192972	209	6055											
THBS1	7057	genome.wustl.edu	37	chr15	39885624	39885624	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagtttaatgctgtggacTtcagtggcaccttcttcatc	8	15	9	9	0	3	1	2	1	1	0	4	2	3	2	1	2	1	3	1	2	1	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:39885624T>G	ENST00000260356.5	+	19	3187	c.3022T>G	c.(3022-3024)Ttc>Gtc	p.F1008V	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1008	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.			F -> S (in Ref. 3; BAF84328). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGCTGTGGACTTCAGTGGCAC	0.473																																																	0													242	250	247					15																	39885624		2200	4297	6497	SO:0001583	missense	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"thrombospondin-1p180"	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3022T>G	15.37:g.39885624T>G	ENSP00000260356:p.Phe1008Val		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.F1008V	ENST00000260356.5	37	c.3022	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617014	0.87359	.	.	ENSG00000137801	ENST00000260356	D	0.96774	-4.12	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.37715	N	0.001961	D	0.98115	0.9378	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.98877	1.0768	10	0.62326	D	0.03	-20.2652	16.0747	0.80960	0.0:0.0:0.0:1.0	.	923;1008	B4E3J7;P07996	.;TSP1_HUMAN	V	1008	ENSP00000260356:F1008V	ENSP00000260356:F1008V	F	+	1	0	THBS1	37672916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.190000	0.69967	0.533000	0.62120	TTC	THBS1	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000137801		0.473	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	-	0	109	0	T	NM_003246		39885624	1	tier1	-	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	32.00	51	24	SNP	1.000	G	G	39885624	T	G	39885624	3	3	22	1	0	0	0	0	1	0	0	0	15900	1609	56	4	3092	4	THBS1	15	39885624	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	8547204	39885624	62645768	210	6056											
MAP1A	4130	genome.wustl.edu	37	chr15	43815519	43815520	+	Frame_Shift_Del	DEL	AG	AG	-																															ctagactctggggctgaaacAgaggaagagaaagatacctg																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:43815519_43815520delAG	ENST00000300231.5	+	4	2298_2299	c.1848_1849delAG	c.(1846-1851)acagagfs	p.E619fs	MAP1A_ENST00000399453.1_Frame_Shift_Del_p.E619fs|MAP1A_ENST00000382031.1_Frame_Shift_Del_p.E857fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	619					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCTGAAACAGAGGAAGAGAA	0.51																																																	0																																										SO:0001589	frameshift_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1848_1849delAG	15.37:g.43815521_43815522delAG	ENSP00000300231:p.Glu619fs		O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Del	DEL	NULL	p.E617fs	ENST00000300231.5	37	c.1848_1849	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.51	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5		0	15	0	AG	NM_002373		43815520	1	tier1		no_errors	ENST00000399453	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	0.002:0.889	-	-	43815520	AG	-	43815519	7	5	22	1	0	1	0	1	0	0	0	0	9265	175	7	0	1850	0	MAP1A	15	43815519	Frame_Shift_Del	DEL	AG	TCGA-IG-A4QS-01A-11D-A27G-09	3929895	43815519	58715873	211	6057											
ACSBG1	23205	genome.wustl.edu	37	chr15	78474909	78474909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggtgtcaatgatggcgtCcagggcttcctcaggcactt	6	11	13	11	1	2	1	2	1	0	0	4	1	4	1	2	4	0	2	2	4	1	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:78474909C>A	ENST00000258873.4	-	7	998	c.793G>T	c.(793-795)Gac>Tac	p.D265Y	ACSBG1_ENST00000541759.1_Missense_Mutation_p.D23Y|ACSBG1_ENST00000560817.1_Missense_Mutation_p.D23Y	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	265					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATGATGGCGTCCAGGGCTTCC	0.582																																																	0													81	69	73					15																	78474909		2196	4293	6489	SO:0001583	missense	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"Acyl-CoA synthetase family"	29567	protein-coding gene	gene with protein product	"bubblegum", "very long-chain acyl-CoA synthetase", "lipidosin"	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.793G>T	15.37:g.78474909C>A	ENSP00000258873:p.Asp265Tyr		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D265Y	ENST00000258873.4	37	c.793	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845876	0.51164	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.44881	1.4;0.91	5.35	4.42	0.53409	AMP-dependent synthetase/ligase (1);	0.182511	0.45606	D	0.000354	T	0.70378	0.3217	M	0.91354	3.2	0.45962	D	0.998783	P;P	0.46064	0.872;0.592	D;P	0.64877	0.93;0.863	T	0.77437	-0.2588	10	0.87932	D	0	-34.9143	14.2627	0.66094	0.1499:0.8501:0.0:0.0	.	261;265	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Y	265;23	ENSP00000258873:D265Y;ENSP00000439955:D23Y	ENSP00000258873:D265Y	D	-	1	0	ACSBG1	76261964	1.000000	0.71417	0.655000	0.29622	0.091000	0.18340	3.942000	0.56614	1.243000	0.43853	0.650000	0.86243	GAC	ACSBG1	-	pfam_AMP-dep_Synth/Lig	ENSG00000103740		0.582	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	-	0	44	0	C	NM_015162		78474909	-1	tier1	-	no_errors	ENST00000258873	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	A	A	78474909	C	A	78474909	3	1	22	1	0	0	0	0	1	0	0	0	173	855	30	3	1413	3	ACSBG1	15	78474909	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	34659390	78474909	24056483	212	6058											
KIAA1024	23251	genome.wustl.edu	37	chr15	79755565	79755565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacagacatgcggctgaccGagttggccgaggtgaagcgg	10	5	16	10	4	0	3	0	2	0	1	0	5	0	3	2	4	2	2	2	4	1	1	rs542789268		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:79755565G>A	ENST00000305428.3	+	3	2530	c.2455G>A	c.(2455-2457)Gag>Aag	p.E819K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	819						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCGGCTGACCGAGTTGGCCGA	0.617													G|||	1	0.000199681	0	0	5008	,	,		19994	0.001		0	False		,,,				2504	0																0													115	102	106					15																	79755565		2196	4293	6489	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2455G>A	15.37:g.79755565G>A	ENSP00000307461:p.Glu819Lys		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.E819K	ENST00000305428.3	37	c.2455	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617297	0.66672	.	.	ENSG00000169330	ENST00000305428	T	0.52526	0.66	5.19	5.19	0.71726	.	0.178599	0.50627	D	0.000110	T	0.49830	0.1580	L	0.46157	1.445	0.58432	D	0.999999	D	0.57571	0.98	P	0.47044	0.535	T	0.46830	-0.9163	9	.	.	.	.	18.7046	0.91632	0.0:0.0:1.0:0.0	.	819	Q9UPX6	K1024_HUMAN	K	819	ENSP00000307461:E819K	.	E	+	1	0	KIAA1024	77542620	1.000000	0.71417	0.795000	0.32087	0.049000	0.14656	5.554000	0.67294	2.410000	0.81850	0.561000	0.74099	GAG	KIAA1024	-	pfam_UPF0258	ENSG00000169330		0.617	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0	29	0	G	NM_015206		79755565	1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	missense	66.67	7	14	SNP	0.994	A	A	79755565	G	A	79755565	3	1	22	1	0	0	0	0	1	0	0	0	8232	1059	37	1	2461	1	KIAA1024	15	79755565	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1280656	79755565	22775827	213	6059											
BNC1	646	genome.wustl.edu	37	chr15	83935797	83935798	+	Frame_Shift_Ins	INS	-	-	G																															acctggcttgttggatacatINSgggggggatccttagcttac																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:83935797_83935798insG	ENST00000345382.2	-	3	310_311	c.225_226insC	c.(223-228)cccatgfs	p.M76fs	BNC1_ENST00000569704.1_Frame_Shift_Ins_p.M69fs|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	76					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GTTGGATACATGGGGGGGATCC	0.421																																																	0																																										SO:0001589	frameshift_variant	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.226dupC	15.37:g.83935804_83935804dupG	ENSP00000307041:p.Met76fs		Q15840	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M75fs	ENST00000345382.2	37	c.226_225	CCDS10324.1	15																																																																																			BNC1	-	NULL	ENSG00000169594		0.421	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1		0	40	0	-	NM_001717		83935798	-1	tier1		no_errors	ENST00000345382	ensembl	human	known	74_37	frame_shift_ins	33.33	24	12	INS	0.001:0.001	G	G	83935798	-	G	83935797	7	5	22	1	0	1	1	0	0	0	0	0	1476	1464	51	0	2770	0	BNC1	15	83935797	Frame_Shift_Ins	INS	-	TCGA-IG-A4QS-01A-11D-A27G-09	4180232	83935797	18595595	214	6060											
RGMA	56963	genome.wustl.edu	37	chr15	93588423	93588423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtgaagttcacgtcGcccgtggtgaggaggtcgaa	8	8	16	9	4	1	2	1	2	0	0	3	4	1	3	2	3	0	1	2	3	2	1	rs201262127	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:93588423G>A	ENST00000329082.7	-	4	1429	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	RGMA_ENST00000542321.2_Silent_p.G370G|RGMA_ENST00000543599.1_Silent_p.G370G|RGMA_ENST00000425933.2_Silent_p.G370G|RGMA_ENST00000556658.1_Silent_p.G277G|RGMA_ENST00000538818.1_Silent_p.G277G|RGMA_ENST00000557301.1_Silent_p.G394G|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	386					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.G386G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AGTTCACGTCGCCCGTGGTGA	0.577																																																	1	Substitution - coding silent(1)	large_intestine(1)						G	,,,,,	0,4230		0,0,2115	39	42	41		1182,1110,1110,1110,1110,1158	-9.2	0	15		41	1,8473		0,1,4236	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RGMA	NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2	,,,,,	0,1,6351	AA,AG,GG		0.0118,0.0,0.0079	,,,,,	394/459,370/435,370/435,370/435,370/435,386/451	93588423	1,12703	2115	4237	6352	SO:0001819	synonymous_variant	0			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1158C>T	15.37:g.93588423G>A			B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	pfam_RGM_N,pfam_RGM_C	p.G386	ENST00000329082.7	37	c.1158	CCDS45357.1	15																																																																																			RGMA	-	pfam_RGM_C	ENSG00000182175		0.577	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	-	0	71	0	G	NM_020211		93588423	-1	tier1	-	no_errors	ENST00000329082	ensembl	human	known	74_37	silent	68.29	13	28	SNP	0.006	A	A	93588423	G	A	93588423	2	1	22	1	0	0	0	0	0	0	0	1	13325	1074	38	1		1	RGMA	15	93588423	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	9652626	93588423	8942969	215	6061											
ASB7	140460	genome.wustl.edu	37	chr15	101169730	101169730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcattgcacgcttgatGttagaatctgaatacaggag	11	10	11	9	2	1	3	0	2	1	1	1	4	1	4	1	1	2	4	1	1	4	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:101169730G>A	ENST00000332783.7	+	5	1085	c.300G>A	c.(298-300)atG>atA	p.M100I	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.M100I	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	100					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			CACGCTTGATGTTAGAATCTG	0.507																																																	0													64	64	64					15																	101169730		2203	4300	6503	SO:0001583	missense	0				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"Ankyrin repeat domain containing"	17182	protein-coding gene	gene with protein product		615052	"ankyrin repeat and SOCS box-containing 7"				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.300G>A	15.37:g.101169730G>A	ENSP00000328327:p.Met100Ile		A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.M100I	ENST00000332783.7	37	c.300	CCDS10387.1	15	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812286	0.70912	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.50548	0.74;0.74	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.04063	-0.285	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.26693	0.072;0.005	T	0.26815	-1.0092	10	0.87932	D	0	-18.2456	19.2541	0.93938	0.0:0.0:1.0:0.0	.	100;100	Q9H672;Q9H672-2	ASB7_HUMAN;.	I	100	ENSP00000328327:M100I;ENSP00000339819:M100I	ENSP00000328327:M100I	M	+	3	0	ASB7	98987253	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	9.240000	0.95396	2.618000	0.88619	0.455000	0.32223	ATG	ASB7	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000183475		0.507	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB7	HGNC	protein_coding	OTTHUMT00000313617.1		0	25	0	G	NM_024708		101169730	1			no_errors	ENST00000332783	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	A	A	101169730	G	A	101169730	3	1	22	1	0	0	0	0	1	0	0	0	1029	1377	48	3	306	3	ASB7	15	101169730	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	7581307	101169730	1361662	216	6062											
SRRM2	23524	genome.wustl.edu	37	chr16	2815963	2815963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcaaggtcgcgggttactCggcggcggaggggaggctct	5	7	20	9	5	2	0	1	0	1	0	4	2	2	2	0	9	1	2	0	9	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:2815963C>T	ENST00000301740.8	+	11	5983	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1812	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGGGTTACTCGGCGGCGGAG	0.612																																																	0													36	44	41					16																	2815963		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5434C>T	16.37:g.2815963C>T	ENSP00000301740:p.Arg1812Trp		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1812W	ENST00000301740.8	37	c.5434	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	6.729	0.503337	0.12822	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.46	4.5	0.54988	.	0.000000	0.64402	D	0.000014	T	0.28167	0.0695	N	0.08118	0	0.32291	N	0.566309	D	0.65815	0.995	P	0.46339	0.513	T	0.40961	-0.9535	10	0.66056	D	0.02	-3.004	11.7039	0.51587	0.1764:0.8236:0.0:0.0	.	1812	Q9UQ35	SRRM2_HUMAN	W	1812;1812;1064	ENSP00000301740:R1812W	ENSP00000301740:R1812W	R	+	1	2	SRRM2	2755964	0.997000	0.39634	0.972000	0.41901	0.531000	0.34715	1.594000	0.36697	1.282000	0.44496	0.650000	0.86243	CGG	SRRM2	-	NULL	ENSG00000167978		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	37	0	C			2815963	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.991	T	T	2815963	C	T	2815963	3	4	22	1	0	0	0	0	1	0	0	0	15216	875	31	1	5472	1	SRRM2	16	2815963	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09		2815963	87538790	217	6063											
ABCC1	4363	genome.wustl.edu	37	chr16	16162026	16162026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggtggccttgtgcaCatttgccgtctacgtgacca	6	12	11	12	2	1	1	0	1	1	0	1	1	1	1	3	2	4	2	3	2	1	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:16162026C>T	ENST00000399410.3	+	13	1866	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I	ABCC1_ENST00000346370.5_Missense_Mutation_p.T564I|ABCC1_ENST00000345148.5_Missense_Mutation_p.T564I|ABCC1_ENST00000349029.5_Missense_Mutation_p.T564I|ABCC1_ENST00000351154.5_Missense_Mutation_p.T564I|ABCC1_ENST00000399408.2_Missense_Mutation_p.T564I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	564	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GCCTTGTGCACATTTGCCGTC	0.567																																																	0													166	162	163					16																	16162026		2127	4238	6365	SO:0001583	missense	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"ATP binding cassette transporters / subfamily C"	51	protein-coding gene	gene with protein product		158343	"multidrug resistance associated protein 1"	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1691C>T	16.37:g.16162026C>T	ENSP00000382342:p.Thr564Ile		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.T564I	ENST00000399410.3	37	c.1691	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265399	0.40095	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	4.46	4.46	0.54185	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.049813	0.85682	D	0.000000	D	0.94915	0.8356	M	0.87038	2.855	0.51233	D	0.999916	D;P;D;D;D;D	0.89917	1.0;0.94;1.0;1.0;1.0;0.999	D;P;D;D;D;D	0.85130	0.984;0.755;0.997;0.989;0.994;0.989	D	0.95886	0.8903	10	0.87932	D	0	-11.1858	15.6775	0.77338	0.0:1.0:0.0:0.0	.	564;564;564;564;564;564	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	I	564;564;564;564;564;564;238	ENSP00000382342:T564I;ENSP00000382340:T564I;ENSP00000263019:T564I;ENSP00000263017:T564I;ENSP00000263014:T564I;ENSP00000263016:T564I	ENSP00000263014:T564I	T	+	2	0	ABCC1	16069527	0.998000	0.40836	0.308000	0.25141	0.023000	0.10783	3.796000	0.55507	2.030000	0.59900	0.462000	0.41574	ACA	ABCC1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.567	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	-	0	84	0	C	NM_004996		16162026	1	tier1	-	no_errors	ENST00000399408	ensembl	human	known	74_37	missense	7.44	112	9	SNP	0.995	T	T	16162026	C	T	16162026	3	4	22	1	0	0	0	0	1	0	0	0	49	478	17	3	1741	3	ABCC1	16	16162026	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	13346063	16162026	74192727	218	6064											
EARS2	124454	genome.wustl.edu	37	chr16	23555876	23555876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcctccttcttcaggagCtccagccgctggggtgagca	7	8	13	13	1	2	1	1	1	1	0	4	2	4	2	4	4	3	3	4	4	1	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:23555876C>A	ENST00000563459.1	-	3	450	c.444G>T	c.(442-444)gaG>gaT	p.E148D	EARS2_ENST00000449606.1_Missense_Mutation_p.E148D|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.E148D|EARS2_ENST00000563232.1_Missense_Mutation_p.E148D			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	148					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TCTTCAGGAGCTCCAGCCGCT	0.572																																																	0													37	42	41					16																	23555876		1967	4137	6104	SO:0001583	missense	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"Aminoacyl tRNA synthetases / Class I"	29419	protein-coding gene	gene with protein product	"glutamate tRNA ligase 2, mitochondrial"	612799	"glutamyl-tRNA synthetase 2, mitochondrial (putative)"			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.444G>T	16.37:g.23555876C>A	ENSP00000456467:p.Glu148Asp		B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito	p.E148D	ENST00000563459.1	37	c.444	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451267	0.26074	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.26223	1.75	5.8	3.85	0.44370	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.206712	0.49916	N	0.000128	T	0.19208	0.0461	L	0.38838	1.175	0.49915	D	0.999831	B;B	0.21606	0.058;0.001	B;B	0.28465	0.09;0.009	T	0.04017	-1.0984	10	0.11485	T	0.65	-2.1292	10.2839	0.43556	0.1357:0.7944:0.0:0.0699	.	148;148	Q86YH3;Q5JPH6	.;SYEM_HUMAN	D	148	ENSP00000395196:E148D	ENSP00000343488:E148D	E	-	3	2	EARS2	23463377	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	1.803000	0.38863	0.794000	0.33899	-0.136000	0.14681	GAG	EARS2	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-ligase_bac/mito	ENSG00000103356		0.572	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	EARS2	HGNC	protein_coding	OTTHUMT00000434844.1	-	0	27	0	C	NM_133451		23555876	-1	tier1	-	no_errors	ENST00000449606	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A	A	23555876	C	A	23555876	3	1	22	1	0	0	0	0	1	0	0	0	4892	796	28	3	1155	3	EARS2	16	23555876	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	7393850	23555876	66798877	219	6065											
KIF22	3835	genome.wustl.edu	37	chr16	29810459	29810459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggactgtaggagccacccGgctcaaccagcgctcctccc	7	6	10	18	3	1	0	1	0	0	0	4	2	3	2	5	3	3	3	5	3	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:29810459G>A	ENST00000160827.4	+	5	753	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	KIF22_ENST00000561482.1_Missense_Mutation_p.R170Q|KIF22_ENST00000400751.5_Missense_Mutation_p.R170Q|KIF22_ENST00000569382.2_Missense_Mutation_p.R170Q|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGAGCCACCCGGCTCAACCAG	0.612																																																	0													33	33	33					16																	29810459		2197	4296	6493	SO:0001583	missense	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.713G>A	16.37:g.29810459G>A	ENSP00000160827:p.Arg238Gln		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R238Q	ENST00000160827.4	37	c.713	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011443	0.75046	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74315	-0.83;-0.83	5.95	5.95	0.96441	Kinesin, motor domain (5);	.	.	.	.	T	0.51449	0.1675	N	0.05078	-0.115	0.80722	D	1	P;P	0.42584	0.66;0.784	B;B	0.36335	0.222;0.189	T	0.57763	-0.7755	9	0.41790	T	0.15	.	11.1844	0.48646	0.083:0.0:0.917:0.0	.	170;238	B7Z265;Q14807	.;KIF22_HUMAN	Q	238;170	ENSP00000160827:R238Q;ENSP00000383562:R170Q	ENSP00000160827:R238Q	R	+	2	0	KIF22	29717960	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.670000	0.61583	2.819000	0.97034	0.655000	0.94253	CGG	KIF22	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000079616		0.612	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	-	0	41	0	G			29810459	1	tier1	-	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	A	A	29810459	G	A	29810459	3	1	22	1	0	0	0	0	1	0	0	0	8317	1116	39	1	731	1	KIF22	16	29810459	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	6254583	29810459	60544294	220	6066											
ORAI3	93129	genome.wustl.edu	37	chr16	30964968	30964968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcccaccccggcaaGcctgtggtggtggtggggcc	4	6	16	15	1	0	0	0	0	0	0	0	0	0	0	6	6	3	1	6	6	1	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:30964968G>T	ENST00000318663.4	+	2	915	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Missense_Mutation_p.A231S	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	231					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						ACCCCGGCAAGCCTGTGGTGG	0.657											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58	71	67					16																	30964968		2197	4299	6496	SO:0001583	missense	0			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.691G>T	16.37:g.30964968G>T	ENSP00000322249:p.Ala231Ser	821	Q96BI8	Missense_Mutation	SNP	pfam_CRAC_channel	p.A231S	ENST00000318663.4	37	c.691	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	g	3.106	-0.183633	0.06340	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.30981	1.51	5.58	-3.78	0.04333	.	1.447880	0.04323	N	0.351094	T	0.12263	0.0298	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.09377	0.004	T	0.17471	-1.0368	10	0.18276	T	0.48	0.2783	2.45	0.04516	0.1448:0.3099:0.3351:0.2101	.	231	Q9BRQ5	ORAI3_HUMAN	S	231	ENSP00000322249:A231S	ENSP00000322249:A231S	A	+	1	0	ORAI3	30872469	.	.	0.004000	0.12327	0.098000	0.18820	.	.	-0.207000	0.10187	-2.176000	0.00320	GCC	ORAI3	-	pfam_CRAC_channel	ENSG00000175938		0.657	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20		0	62	0	G	NM_152288		30964968	1			no_errors	ENST00000318663	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.000	T	T	30964968	G	T	30964968	3	4	22	1	0	0	0	0	1	0	0	0	11298	971	34	3	697	3	ORAI3	16	30964968	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1154509	30964968	59389785	221	6067											
VPS35	55737	genome.wustl.edu	37	chr16	46710559	46710559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtaactcagcacaggcccGaagaaaaggattcaaagtct	15	7	10	9	1	3	1	2	0	1	1	3	3	3	2	1	2	2	2	1	2	5	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:46710559G>A	ENST00000299138.7	-	8	908	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	284					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCACAGGCCCGAAGAAAAGGA	0.368																																																	0													77	72	74					16																	46710559		2203	4300	6503	SO:0001583	missense	0			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.850C>T	16.37:g.46710559G>A	ENSP00000299138:p.Arg284Trp		Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	pfam_VPS35,superfamily_ARM-type_fold	p.R284W	ENST00000299138.7	37	c.850	CCDS10721.1	16	.	.	.	.	.	.	.	.	.	.	.	22.3	4.267739	0.80469	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.44482	0.92	5.29	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.993	P;D	0.63283	0.903;0.913	T	0.57021	-0.7882	10	0.72032	D	0.01	-14.2778	13.1981	0.59752	0.0:0.0:0.5758:0.4242	.	284;149	Q96QK1;F5GYF5	VPS35_HUMAN;.	W	284;149	ENSP00000299138:R284W	ENSP00000299138:R284W	R	-	1	2	VPS35	45268060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.260000	0.58835	1.274000	0.44362	0.655000	0.94253	CGG	VPS35	-	pfam_VPS35,superfamily_ARM-type_fold	ENSG00000069329		0.368	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	HGNC	protein_coding	OTTHUMT00000255742.3	-	0	36	0	G			46710559	-1	tier1	-	no_errors	ENST00000299138	ensembl	human	known	74_37	missense	34.29	46	24	SNP	1.000	A	A	46710559	G	A	46710559	3	1	22	1	0	0	0	0	1	0	0	0	17252	1057	37	1	1580	1	VPS35	16	46710559	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	15745591	46710559	43644194	222	6068											
SLC12A4	6560	genome.wustl.edu	37	chr16	67984933	67984933	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgggcgtcacgaaggTccccagagcggtttgagcca	8	8	13	12	3	2	2	1	1	1	1	3	3	3	2	3	3	2	1	3	3	1	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:67984933T>G	ENST00000316341.3	-	10	1468	c.1328A>C	c.(1327-1329)gAc>gCc	p.D443A	SLC12A4_ENST00000537830.2_Missense_Mutation_p.D437A|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Missense_Mutation_p.D445A|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D443A|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D443A|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D412A|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D395A	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	443					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCACGAAGGTCCCCAGAGCG	0.612																																																	0													65	69	68					16																	67984933		2198	4300	6498	SO:0001583	missense	0				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1328A>C	16.37:g.67984933T>G	ENSP00000318557:p.Asp443Ala		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.D445A	ENST00000316341.3	37	c.1334	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409325	0.83340	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27	5.11	5.11	0.69529	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	M	0.93507	3.425	0.80722	D	1	P;P;D;P;P;P	0.54047	0.659;0.92;0.964;0.791;0.791;0.631	P;P;P;B;B;P	0.58577	0.607;0.831;0.841;0.444;0.444;0.461	D	0.99081	1.0837	10	0.87932	D	0	.	15.1969	0.73100	0.0:0.0:0.0:1.0	.	445;443;412;437;443;443	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	A	445;412;437;443;443	ENSP00000395983:D445A;ENSP00000438334:D412A;ENSP00000445962:D437A;ENSP00000343374:D443A;ENSP00000318557:D443A	ENSP00000318557:D443A	D	-	2	0	SLC12A4	66542434	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.997000	0.88414	2.055000	0.61198	0.459000	0.35465	GAC	SLC12A4	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.612	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	-	0	30	0	T	NM_005072		67984933	-1	tier1	-	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G	G	67984933	T	G	67984933	3	3	22	1	0	0	0	0	1	0	0	0	14430	1667	58	4	1989	4	SLC12A4	16	67984933	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	21274374	67984933	22369820	223	6069											
SCARF1	8578	genome.wustl.edu	37	chr17	1548969	1548969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtccagagcagcagcagcGggagcagcagccccagcccc	10	1	14	16	1	0	1	0	0	0	1	1	3	1	2	5	1	8	5	5	1	0	0	rs200018599		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:1548969G>A	ENST00000263071.4	-	1	72	c.23C>T	c.(22-24)cCg>cTg	p.P8L	SCARF1_ENST00000348987.3_Missense_Mutation_p.P8L|SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_Missense_Mutation_p.P8L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	8					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGCAGCAGCGGGAGCAGCAG	0.692																																																	0													14	18	17					17																	1548969		2186	4287	6473	SO:0001583	missense	0			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"scavenger receptor expressed by endothelial cells", "acetyl LDL receptor"	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.23C>T	17.37:g.1548969G>A	ENSP00000263071:p.Pro8Leu		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P8L	ENST00000263071.4	37	c.23	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694363	0.30052	.	.	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T;T	0.20598	2.06;2.78;2.74	4.51	-1.45	0.08828	.	0.445686	0.16553	N	0.209381	T	0.14399	0.0348	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20459	0.045;0.027;0.045	B;B;B	0.10450	0.005;0.002;0.005	T	0.22556	-1.0213	10	0.31617	T	0.26	2.8982	9.419	0.38539	0.4024:0.0:0.5976:0.0	.	8;8;8	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	L	8	ENSP00000263071:P8L;ENSP00000323964:P8L;ENSP00000411167:P8L	ENSP00000263071:P8L	P	-	2	0	SCARF1	1495719	0.000000	0.05858	0.068000	0.19968	0.383000	0.30230	0.303000	0.19210	-0.133000	0.11537	0.467000	0.42956	CCG	SCARF1	-	NULL	ENSG00000074660		0.692	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	-	0	22	0	G	NM_003693		1548969	-1	tier1	rs200018599	no_errors	ENST00000263071	ensembl	human	known	74_37	missense	95.83	1	23	SNP	0.028	A	A	1548969	G	A	1548969	3	1	22	1	0	0	0	0	1	0	0	0	13928	1116	39	1	2513	1	SCARF1	17	1548969	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		1548969	79646241	224	6070											
TP53	7157	genome.wustl.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs397516436		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	449	0	G	NM_000546		7578212	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	75.18	102	309	SNP	0.893	A	A	7578212	G	A	7578212	4	1	22	1	0	0	0	0	0	1	0	0	16429	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	6029243	7578212	73616998	225	6071											
DNAH2	146754	genome.wustl.edu	37	chr17	7637950	7637950	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggtgaagaagggagtgaAgcacgttgaatccatcctgc	11	8	14	8	1	0	4	0	3	0	1	2	5	2	5	2	2	2	3	2	2	4	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:7637950A>T	ENST00000572933.1	+	7	2362	c.902A>T	c.(901-903)aAg>aTg	p.K301M	DNAH2_ENST00000570791.1_Missense_Mutation_p.K301M|DNAH2_ENST00000082259.3_Missense_Mutation_p.K301M|DNAH2_ENST00000389173.2_Missense_Mutation_p.K301M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	301	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGGGAGTGAAGCACGTTGAA	0.507																																																	0													122	104	110					17																	7637950		2203	4300	6503	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.902A>T	17.37:g.7637950A>T	ENSP00000458355:p.Lys301Met		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K301M	ENST00000572933.1	37	c.902	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517314	0.64634	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.58652	0.32;0.32	5.53	5.53	0.82687	Dynein heavy chain, domain-1 (1);	2.278230	0.01576	N	0.020832	T	0.79581	0.4470	M	0.84219	2.685	0.38713	D	0.953269	D;D	0.64830	0.989;0.994	D;D	0.66716	0.911;0.946	T	0.63037	-0.6726	10	0.87932	D	0	.	9.2106	0.37316	0.9176:0.0:0.0824:0.0	.	301;301	Q9P225;Q9P225-3	DYH2_HUMAN;.	M	301	ENSP00000373825:K301M;ENSP00000082259:K301M	ENSP00000082259:K301M	K	+	2	0	DNAH2	7578675	0.925000	0.31364	0.936000	0.37596	0.866000	0.49608	1.945000	0.40273	2.111000	0.64477	0.374000	0.22700	AAG	DNAH2	-	pfam_Dynein_heavy_dom-1	ENSG00000183914		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	66	0	A	NM_020877		7637950	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	74.29	9	26	SNP	0.944	T	T	7637950	A	T	7637950	3	4	22	1	0	0	0	0	1	0	0	0	4616	72	3	5	924	5	DNAH2	17	7637950	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	59738	7637950	73557260	226	6072											
MFSD6L	162387	genome.wustl.edu	37	chr17	8702166	8702166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggaccaggaccatcagcagGctggcccccaccgagccgag	9	2	14	16	2	1	0	1	0	0	0	1	4	1	2	6	4	2	2	6	4	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:8702166G>T	ENST00000329805.4	-	1	501	c.273C>A	c.(271-273)agC>agA	p.S91R		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	91						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CCATCAGCAGGCTGGCCCCCA	0.627																																																	0													51	57	55					17																	8702166		2203	4300	6503	SO:0001583	missense	0			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.273C>A	17.37:g.8702166G>T	ENSP00000330051:p.Ser91Arg		Q6YL34|Q8NA76	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S91R	ENST00000329805.4	37	c.273	CCDS11146.1	17	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219691	0.39201	.	.	ENSG00000185156	ENST00000329805	T	0.80909	-1.43	4.39	1.08	0.20341	Major facilitator superfamily domain, general substrate transporter (1);	0.232564	0.34507	N	0.003913	T	0.82176	0.4980	M	0.65975	2.015	0.32443	N	0.54651	D	0.71674	0.998	D	0.63488	0.915	T	0.78932	-0.2009	10	0.25751	T	0.34	-4.098	4.1882	0.10409	0.2668:0.3284:0.4048:0.0	.	91	Q8IWD5	MFS6L_HUMAN	R	91	ENSP00000330051:S91R	ENSP00000330051:S91R	S	-	3	2	MFSD6L	8642891	1.000000	0.71417	0.994000	0.49952	0.137000	0.21094	0.981000	0.29526	1.024000	0.39682	0.655000	0.94253	AGC	MFSD6L	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000185156		0.627	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6L	HGNC	protein_coding	OTTHUMT00000442554.1	-	0	62	0	G	NM_152599		8702166	-1	tier1	-	no_errors	ENST00000329805	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.978	T	T	8702166	G	T	8702166	3	4	22	1	0	0	0	0	1	0	0	0	9574	1194	42	3	1491	3	MFSD6L	17	8702166	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1064216	8702166	72493044	227	6073											
MYH2	4620	genome.wustl.edu	37	chr17	10431082	10431082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagattcagtctgcaggCgccccctctgcgcagtcagg	7	8	11	15	2	4	1	2	0	2	1	4	1	4	1	3	2	3	2	3	2	1	2	rs148326504	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:10431082C>T	ENST00000245503.5	-	28	4238	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1285H|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1285					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTCTGCAGGCGCCCCCTCTG	0.527																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	87	88	87		3854,3854	4.8	1	17	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1285/1942,1285/1942	10431082	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3854G>A	17.37:g.10431082C>T	ENSP00000245503:p.Arg1285His		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1285H	ENST00000245503.5	37	c.3854	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139508	0.37728	0.0	1.16E-4	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83914	-1.78;-1.78	4.78	4.78	0.61160	Myosin tail (1);	0.000000	0.39909	U	0.001231	D	0.87838	0.6278	M	0.91354	3.2	0.46774	D	0.999199	B	0.13145	0.007	B	0.24006	0.05	D	0.87047	0.2144	10	0.72032	D	0.01	.	18.3692	0.90401	0.0:1.0:0.0:0.0	.	1285	Q9UKX2	MYH2_HUMAN	H	1285	ENSP00000245503:R1285H;ENSP00000380367:R1285H	ENSP00000245503:R1285H	R	-	2	0	MYH2	10371807	0.090000	0.21635	0.993000	0.49108	0.034000	0.12701	1.831000	0.39141	2.643000	0.89663	0.462000	0.41574	CGC	MYH2	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000125414		0.527	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	33	0	C	NM_017534		10431082	-1	tier1	rs148326504	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.996	T	T	10431082	C	T	10431082	3	4	22	1	0	0	0	0	1	0	0	0	10073	768	27	1	2023	1	MYH2	17	10431082	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	1728916	10431082	70764128	228	6074											
MYOCD	93649	genome.wustl.edu	37	chr17	12656029	12656029	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccctgccggacacctTcaatgatgcctccccctcct	5	10	8	18	1	1	1	1	1	0	0	4	2	4	2	7	2	2	0	7	2	1	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:12656029T>G	ENST00000343344.4	+	10	1424	c.1424T>G	c.(1423-1425)tTc>tGc	p.F475C	MYOCD_ENST00000425538.1_Missense_Mutation_p.F475C|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.F379C			Q8IZQ8	MYCD_HUMAN	myocardin	475	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCGGACACCTTCAATGATGCC	0.627																																																	0													69	65	66					17																	12656029		2203	4300	6503	SO:0001583	missense	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1424T>G	17.37:g.12656029T>G	ENSP00000341835:p.Phe475Cys		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.F475C	ENST00000343344.4	37	c.1424	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508499	0.64410	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.54279	0.65;0.58	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.994	T	0.77765	-0.2465	10	0.48119	T	0.1	-27.4425	14.866	0.70416	0.0:0.0:0.0:1.0	.	194;379;475;475	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	C	194;475;475;379;180	ENSP00000341835:F475C;ENSP00000400148:F180C	ENSP00000341835:F475C	F	+	2	0	MYOCD	12596754	1.000000	0.71417	0.989000	0.46669	0.704000	0.40688	4.995000	0.63908	2.158000	0.67659	0.482000	0.46254	TTC	MYOCD	-	NULL	ENSG00000141052		0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0	25	0	T	NM_153604		12656029	1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	G	G	12656029	T	G	12656029	3	3	22	1	0	0	0	0	1	0	0	0	10125	1783	62	4	1462	4	MYOCD	17	12656029	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	2224947	12656029	68539181	229	6075											
SLC5A10	125206	genome.wustl.edu	37	chr17	18922878	18922878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtctttgtcctgggcGtcttctggcgacgtgccaac	4	12	12	13	3	3	0	0	0	3	0	4	1	4	0	2	2	3	1	2	2	1	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:18922878G>A	ENST00000395645.3	+	12	1402	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	SLC5A10_ENST00000395643.2_Missense_Mutation_p.V435I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V478I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V426I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V432I|SLC5A10_ENST00000317977.6_Missense_Mutation_p.V432I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	462					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGTCCTGGGCGTCTTCTGGCG	0.637																																																	0													69	61	64					17																	18922878		2203	4300	6503	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1384G>A	17.37:g.18922878G>A	ENSP00000379007:p.Val462Ile		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V478I	ENST00000395645.3	37	c.1432	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	G	0.941	-0.709631	0.03230	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.09;-2.19;-2.19	4.49	0.944	0.19537	Sodium/solute symporter, conserved site (1);	0.231384	0.43579	N	0.000551	T	0.59905	0.2228	N	0.01454	-0.855	0.31052	N	0.715133	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.001;0.002	B;B;B;B;B	0.12156	0.007;0.003;0.007;0.002;0.005	T	0.57493	-0.7802	10	0.02654	T	1	.	7.4201	0.27067	0.6057:0.0:0.3942:0.0	.	426;435;462;478;432	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	I	432;478;432;426;462;435	ENSP00000324346:V432I;ENSP00000379008:V478I;ENSP00000379004:V432I;ENSP00000401875:V426I;ENSP00000379007:V462I;ENSP00000379005:V435I	ENSP00000324346:V432I	V	+	1	0	SLC5A10	18863603	0.322000	0.24634	1.000000	0.80357	0.531000	0.34715	0.814000	0.27239	0.213000	0.20722	-0.340000	0.08031	GTC	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0	24	0	G	NM_152351		18922878	1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	71.43	14	35	SNP	0.975	A	A	18922878	G	A	18922878	3	1	22	1	0	0	0	0	1	0	0	0	14707	1145	40	1	1478	1	SLC5A10	17	18922878	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	6266849	18922878	62272332	230	6076											
ALDH3A1	218	genome.wustl.edu	37	chr17	19644521	19644521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatttcccccaggcgatgCgtctgtgagaatcccagact	9	10	10	12	2	1	3	0	2	1	2	3	5	3	3	3	1	1	0	3	1	2	1	rs145505711		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:19644521C>T	ENST00000457500.2	-	5	1021	c.692G>A	c.(691-693)cGc>cAc	p.R231H	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.R158H|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.R231H|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.R231H|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.R231H	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	231					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.R231H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CCAGGCGATGCGTCTGTGAGA	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79	72	74		692,692,692	5.4	1	17	dbSNP_134	74	5,8595	4.3+/-15.6	0,5,4295	no	missense,missense,missense	ALDH3A1	NM_000691.4,NM_001135167.1,NM_001135168.1	29,29,29	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging,probably-damaging,probably-damaging	231/454,231/454,231/454	19644521	6,13000	2203	4300	6503	SO:0001583	missense	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.692G>A	17.37:g.19644521C>T	ENSP00000411821:p.Arg231His		A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.R231H	ENST00000457500.2	37	c.692	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599220	0.87055	2.27E-4	5.81E-4	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.36	5.36	0.76844	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050011	0.85682	N	0.000000	D	0.91626	0.7354	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93755	0.7062	10	0.87932	D	0	0.9604	18.0827	0.89445	0.0:1.0:0.0:0.0	.	231;348;231	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	H	231;231;289;231;231;158;231	ENSP00000225740:R231H;ENSP00000378923:R231H;ENSP00000388469:R231H;ENSP00000411821:R231H;ENSP00000389766:R231H	ENSP00000225740:R231H	R	-	2	0	ALDH3A1	19585113	1.000000	0.71417	0.995000	0.50966	0.483000	0.33249	7.272000	0.78516	2.533000	0.85409	0.655000	0.94253	CGC	ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000108602		0.547	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4		0	33	0	C	NM_000691		19644521	-1			no_errors	ENST00000225740	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	19644521	C	T	19644521	3	4	22	1	0	0	0	0	1	0	0	0	497	768	27	1	693	1	ALDH3A1	17	19644521	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	721643	19644521	61550689	231	6077											
RFFL	117584	genome.wustl.edu	37	chr17	33339111	33339111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagaagaacacagtcaatgGgtgagtccatgcagatctta	14	8	10	9	0	2	4	1	1	1	3	3	4	3	4	2	1	2	1	2	1	4	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:33339111G>A	ENST00000315249.7	-	7	1190	c.968C>T	c.(967-969)cCc>cTc	p.P323L	RFFL_ENST00000394597.2_Missense_Mutation_p.P323L|RFFL_ENST00000378516.2_Missense_Mutation_p.P315L|RFFL_ENST00000447669.2_Missense_Mutation_p.P323L|RFFL_ENST00000415395.2_Missense_Mutation_p.P323L|RFFL_ENST00000584655.1_Missense_Mutation_p.P287L|RP5-837J1.2_ENST00000578488.1_RNA|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.P232L|RFFL_ENST00000413582.2_Missense_Mutation_p.P315L|RFFL_ENST00000268850.7_Missense_Mutation_p.P287L					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACAGTCAATGGGTGAGTCCAT	0.512																																																	0													148	111	123					17																	33339111		2203	4300	6503	SO:0001583	missense	0			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"RING-type (C3HC4) zinc fingers"	24821	protein-coding gene	gene with protein product		609735	"ring finger and FYVE-like domain containing"			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.968C>T	17.37:g.33339111G>A	ENSP00000326170:p.Pro323Leu			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.P323L	ENST00000315249.7	37	c.968	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953205	0.73902	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.79653	-0.07;-0.07;-1.29;-0.07	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.52823	1.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85701	0.1313	10	0.40728	T	0.16	-22.3752	18.891	0.92403	0.0:0.0:1.0:0.0	.	287;323;315	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	L	323;323;315;287	ENSP00000326170:P323L;ENSP00000378096:P323L;ENSP00000367777:P315L;ENSP00000268850:P287L	ENSP00000268850:P287L	P	-	2	0	RFFL	30363224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.941000	0.99782	0.655000	0.94253	CCC	RFFL	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000092871		0.512	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2		0	39	0	G	NM_057178		33339111	-1			no_errors	ENST00000315249	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	33339111	G	A	33339111	3	1	22	1	0	0	0	0	1	0	0	0	13295	1232	43	3	127	3	RFFL	17	33339111	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	13694590	33339111	47856099	232	6078											
PLEKHM1	9842	genome.wustl.edu	37	chr17	43545713	43545713	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggcctgaggtgctctcTacaggctgctgtaagtccag	6	11	13	11	0	1	1	0	1	1	0	3	1	2	1	2	3	4	5	2	3	2	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:43545713T>C	ENST00000430334.3	-	5	1303	c.1170A>G	c.(1168-1170)gtA>gtG	p.V390V	RN7SL730P_ENST00000583727.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.V301V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	390					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGGTGCTCTCTACAGGCTGCT	0.637																																																	0													20	21	21					17																	43545713		2203	4299	6502	SO:0001819	synonymous_variant	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1170A>G	17.37:g.43545713T>C			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V390	ENST00000430334.3	37	c.1170	CCDS32671.1	17																																																																																			PLEKHM1	-	NULL	ENSG00000225190		0.637	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	-	0	80	0	T	NM_014798		43545713	-1	tier1	-	no_errors	ENST00000430334	ensembl	human	known	74_37	silent	25.81	69	24	SNP	0.000	C	C	43545713	T	C	43545713	2	2	22	1	0	0	0	0	0	0	0	1	12119	1509	53	4		4	PLEKHM1	17	43545713	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	10206602	43545713	37649497	233	6079											
ABCA6	23460	genome.wustl.edu	37	chr17	67097074	67097074	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaactgaaaatctataaTccttaaaacagaaacaaata	23	8	2	8	0	1	2	0	1	1	1	2	2	2	2	1	0	3	0	1	0	10	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:67097074T>C	ENST00000284425.2	-	22	3050	c.2876A>G	c.(2875-2877)gAt>gGt	p.D959G	ABCA6_ENST00000446604.2_5'Flank|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	959					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAATCTATAATCCTTAAAACA	0.303																																																	0													66	69	68					17																	67097074		2202	4298	6500	SO:0001630	splice_region_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2875-1A>G	17.37:g.67097074T>C			Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D959G	ENST00000284425.2	37	c.2876	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	9.334	1.061181	0.19987	.	.	ENSG00000154262	ENST00000284425	D	0.87029	-2.2	4.75	2.44	0.29823	.	0.000000	0.52532	D	0.000071	D	0.83751	0.5322	M	0.71296	2.17	0.80722	D	1	B	0.18310	0.027	B	0.26969	0.075	T	0.77392	-0.2605	10	0.66056	D	0.02	.	4.4733	0.11722	0.0:0.1094:0.1964:0.6943	.	959	Q8N139	ABCA6_HUMAN	G	959	ENSP00000284425:D959G	ENSP00000284425:D959G	D	-	2	0	ABCA6	64608669	0.997000	0.39634	0.993000	0.49108	0.583000	0.36354	0.911000	0.28584	0.381000	0.24851	0.477000	0.44152	GAT	ABCA6	-	NULL	ENSG00000154262		0.303	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0	19	0	T	NM_080284	Missense_Mutation	67097074	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	25.81	22	8	SNP	0.999	C	C	67097074	T	C	67097074	5	2	22	1	0	0	0	0	0	0	1	0	36	1449	50	4	2049	4	ABCA6	17	67097074	Splice_Site	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	23551361	67097074	14098136	234	6080											
QRICH2	84074	genome.wustl.edu	37	chr17	74274083	74274083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtaccgtttgtagcaggGggagcccaggcactgggcgt	6	8	16	11	2	0	0	0	0	0	0	0	1	0	1	3	4	3	5	3	4	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:74274083G>A	ENST00000262765.5	-	15	4785	c.4606C>T	c.(4606-4608)Ccc>Tcc	p.P1536S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1536										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTGTAGCAGGGGGAGCCCAGG	0.627																																																	0													52	55	54					17																	74274083		2203	4300	6503	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4606C>T	17.37:g.74274083G>A	ENSP00000262765:p.Pro1536Ser		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.P1536S	ENST00000262765.5	37	c.4606	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555650	0.27739	.	.	ENSG00000129646	ENST00000262765	T	0.09350	2.99	5.51	3.26	0.37387	.	.	.	.	.	T	0.15046	0.0363	L	0.46885	1.475	0.09310	N	1	P	0.46784	0.884	P	0.50270	0.636	T	0.07195	-1.0785	9	0.36615	T	0.2	-16.9763	7.8669	0.29543	0.0982:0.1687:0.7331:0.0	.	1536	Q9H0J4	QRIC2_HUMAN	S	1536	ENSP00000262765:P1536S	ENSP00000262765:P1536S	P	-	1	0	QRICH2	71785678	0.993000	0.37304	0.889000	0.34880	0.325000	0.28411	1.724000	0.38064	2.577000	0.86979	0.491000	0.48974	CCC	QRICH2	-	NULL	ENSG00000129646		0.627	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	-	0	30	0	G	NM_032134		74274083	-1	tier1	-	no_errors	ENST00000262765	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.157	A	A	74274083	G	A	74274083	3	1	22	1	0	0	0	0	1	0	0	0	12925	1232	43	3	405	3	QRICH2	17	74274083	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	7177009	74274083	6921127	235	6081											
SLC38A10	124565	genome.wustl.edu	37	chr17	79256060	79256060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggccatcatgttccGctgcaggctgagcgggagca	8	7	16	10	2	1	1	1	1	0	0	2	4	2	3	2	4	3	5	2	4	0	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:79256060G>A	ENST00000374759.3	-	5	813	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	SLC38A10_ENST00000288439.5_Missense_Mutation_p.R144W|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	144					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATCATGTTCCGCTGCAGGCTG	0.662																																																	0													98	76	83					17																	79256060		2203	4300	6503	SO:0001583	missense	0			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.430C>T	17.37:g.79256060G>A	ENSP00000363891:p.Arg144Trp		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R144W	ENST00000374759.3	37	c.430	CCDS42397.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111672|4.111672	0.77210|0.77210	.|.	.|.	ENSG00000157637|ENSG00000157637	ENST00000543204|ENST00000374759;ENST00000288439;ENST00000539748	.|T;T;T	.|0.02763	.|4.17;4.17;4.17	5.19|5.19	1.57|1.57	0.23409|0.23409	.|.	.|0.147539	.|0.56097	.|D	.|0.000037	T|T	0.14270|0.14270	0.0345|0.0345	M|M	0.81112|0.81112	2.525|2.525	0.53688|0.53688	D|D	0.99997|0.99997	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.74674	.|0.969;0.984	T|T	0.00208|0.00208	-1.1918|-1.1918	5|10	.|0.87932	.|D	.|0	-28.5398|-28.5398	14.2141|14.2141	0.65781|0.65781	0.0:0.0:0.5912:0.4088|0.0:0.0:0.5912:0.4088	.|.	.|144;144	.|Q9HBR0-2;Q9HBR0	.|.;S38AA_HUMAN	V|W	2|144;144;96	.|ENSP00000363891:R144W;ENSP00000288439:R144W;ENSP00000439115:R96W	.|ENSP00000288439:R144W	A|R	-|-	2|1	0|2	SLC38A10|SLC38A10	76870655|76870655	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	2.376000|2.376000	0.44292|0.44292	-0.019000|-0.019000	0.14055|0.14055	-0.262000|-0.262000	0.10625|0.10625	GCG|CGG	SLC38A10	-	pfam_AA_transpt_TM	ENSG00000157637		0.662	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	-	0	62	0	G	NM_138570		79256060	-1	tier1	-	no_errors	ENST00000374759	ensembl	human	known	74_37	missense	18.64	48	11	SNP	1.000	A	A	79256060	G	A	79256060	3	1	22	1	0	0	0	0	1	0	0	0	14647	1086	38	1	3255	1	SLC38A10	17	79256060	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	4981977	79256060	1939150	236	6082											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6171916	6171916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccacccagtagtcatacTtatggtcccaaccatcaaaa	13	9	4	15	0	2	0	2	0	0	0	4	0	4	0	5	1	2	1	5	1	6	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:6171916T>G	ENST00000284898.6	-	13	1207	c.1007A>C	c.(1006-1008)aAg>aCg	p.K336T	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.K336T|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.K336T|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.K336T|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.K149T	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	336					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTAGTCATACTTATGGTCCCA	0.418																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													82	65	71					18																	6171916		2197	4286	6483	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1007A>C	18.37:g.6171916T>G	ENSP00000284898:p.Lys336Thr		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.K336T	ENST00000284898.6	37	c.1007	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054891	0.36277	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.4	3.01	0.34805	.	0.077917	0.52532	D	0.000080	T	0.19046	0.0457	L	0.32530	0.975	0.36388	D	0.862313	B;B	0.30973	0.302;0.028	B;B	0.30401	0.115;0.07	T	0.15665	-1.0429	10	0.15952	T	0.53	.	7.0507	0.25071	0.0:0.1797:0.0:0.8203	.	336;336	Q8NA19;F8W9S8	LMBL4_HUMAN;.	T	336;336;336;149;336	ENSP00000382976:K336T;ENSP00000318543:K336T;ENSP00000284898:K336T;ENSP00000444774:K149T;ENSP00000382975:K336T	ENSP00000284898:K336T	K	-	2	0	L3MBTL4	6161916	0.932000	0.31603	0.619000	0.29118	0.891000	0.51852	1.449000	0.35123	0.369000	0.24510	0.528000	0.53228	AAG	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.418	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	35	0	T	NM_173464		6171916	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.999	G	G	6171916	T	G	6171916	3	3	22	1	0	0	0	0	1	0	0	0	8622	1609	56	4	896	4	L3MBTL4	18	6171916	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09		6171916	71905332	237	6083											
PTPRM	5797	genome.wustl.edu	37	chr18	8253277	8253277	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctggtgcagtcccatacTtacaagaagcgagagccggc	11	6	12	12	2	0	2	0	0	0	2	1	3	1	2	3	2	6	1	3	2	4	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:8253277T>G	ENST00000332175.8	+	17	3617	c.2580T>G	c.(2578-2580)acT>acG	p.T860T	PTPRM_ENST00000400053.4_Silent_p.T798T|PTPRM_ENST00000444013.1_Silent_p.T647T|PTPRM_ENST00000400060.4_Silent_p.T874T|PTPRM_ENST00000580170.1_Silent_p.T873T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	860					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTCCCATACTTACAAGAAGC	0.577																																																	0													37	31	33					18																	8253277		2202	4300	6502	SO:0001819	synonymous_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2580T>G	18.37:g.8253277T>G			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T874	ENST00000332175.8	37	c.2622	CCDS11840.1	18																																																																																			PTPRM	-	NULL	ENSG00000173482		0.577	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	18	0	T			8253277	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	silent	56.52	10	13	SNP	0.261	G	G	8253277	T	G	8253277	2	3	22	1	0	0	0	0	0	0	0	1	12851	1596	56	4		4	PTPRM	18	8253277	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	2081361	8253277	69823971	238	6084											
ELP2	55250	genome.wustl.edu	37	chr18	33750037	33750037	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtattaggtggttgtctgGggtgagtgcgactccactga	6	13	15	7	1	1	2	0	2	1	0	2	3	2	2	1	4	1	2	1	4	2	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:33750037G>A	ENST00000358232.6	+	20	2151	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	ELP2_ENST00000350494.6_Nonsense_Mutation_p.W691*|ELP2_ENST00000351393.6_Nonsense_Mutation_p.W670*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.W761*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.W626*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.W626*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	696					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGGTTGTCTGGGGTGAGTGCG	0.502																																																	0													178	130	147					18																	33750037		2203	4300	6503	SO:0001587	stop_gained	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2088G>A	18.37:g.33750037G>A	ENSP00000350967:p.Trp696*		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W696*	ENST00000358232.6	37	c.2088	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.297073	0.98747	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7447	13.0019	0.58681	0.0:0.0:1.0:0.0	.	.	.	.	X	696;670;761;626;691;626	.	ENSP00000316051:W691X	W	+	3	0	ELP2	32004035	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.143000	0.89621	2.440000	0.82611	0.591000	0.81541	TGG	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.502	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	-	0	148	0	G	NM_018255		33750037	1	tier1	-	no_errors	ENST00000358232	ensembl	human	known	74_37	nonsense	36.51	80	46	SNP	1.000	A	A	33750037	G	A	33750037	4	1	22	1	0	0	0	0	0	1	0	0	5096	1241	43	3	2166	3	ELP2	18	33750037	Nonsense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	25496760	33750037	44327211	239	6085											
CDH19	28513	genome.wustl.edu	37	chr18	64172528	64172528	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttttaaacccaaagtcaAaaaaataaaccctgatgaag	19	10	5	7	0	1	2	1	2	0	0	1	2	1	2	2	0	2	1	2	0	9	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:64172528A>C	ENST00000540086.1	-	10	1716	c.1470T>G	c.(1468-1470)ttT>ttG	p.F490L	CDH19_ENST00000262150.2_Missense_Mutation_p.L614V	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCCAAAGTCAAAAAAATAAAC	0.323																																																	0													41	49	46					18																	64172528		2192	4205	6397	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"Cadherins / Major cadherins"	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1470T>G	18.37:g.64172528A>C	ENSP00000439593:p.Phe490Leu		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L614V	ENST00000540086.1	37	c.1840	CCDS59325.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.51|11.51	1.660738|1.660738	0.29515|0.29515	.|.	.|.	ENSG00000071991|ENSG00000071991	ENST00000540086|ENST00000262150	T|T	0.52983|0.59638	0.64|0.25	5.19|5.19	-5.51|-5.51	0.02568|0.02568	.|.	.|0.385169	.|0.23854	.|N	.|0.043916	T|T	0.45716|0.45716	0.1356|0.1356	M|M	0.81341|0.81341	2.54|2.54	0.09310|0.09310	N|N	1|1	B|B	0.14438|0.19935	0.01|0.04	B|B	0.14023|0.13407	0.01|0.009	T|T	0.47100|0.47100	-0.9143|-0.9143	9|10	0.46703|0.87932	T|D	0.11|0	.|.	0.8867|0.8867	0.01246|0.01246	0.3225:0.2835:0.2172:0.1768|0.3225:0.2835:0.2172:0.1768	.|.	490|614	F5H1K0|Q9H159	.|CAD19_HUMAN	L|V	490|614	ENSP00000439593:F490L|ENSP00000262150:L614V	ENSP00000439593:F490L|ENSP00000262150:L614V	F|L	-|-	3|1	2|2	CDH19|CDH19	62323508|62323508	0.031000|0.031000	0.19500|0.19500	0.177000|0.177000	0.23020|0.23020	0.404000|0.404000	0.30871|0.30871	0.031000|0.031000	0.13710|0.13710	-0.480000|-0.480000	0.06803|0.06803	0.533000|0.533000	0.62120|0.62120	TTT|TTG	CDH19	-	NULL	ENSG00000071991		0.323	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	-	0	18	0	A	NM_021153		64172528	-1	tier1	-	no_errors	ENST00000262150	ensembl	human	known	74_37	missense	76.19	5	16	SNP	0.104	C	C	64172528	A	C	64172528	3	2	22	1	0	0	0	0	1	0	0	0	3111	11	1	4	482	4	CDH19	18	64172528	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	30422491	64172528	13904720	240	6086											
NETO1	81832	genome.wustl.edu	37	chr18	70534522	70534522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacgctgcgcccatggAtcatgtctgtgcgttacacc	8	9	11	13	3	2	0	1	0	1	0	2	2	2	1	2	1	4	3	2	1	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:70534522A>T	ENST00000327305.6	-	1	662	c.5T>A	c.(4-6)aTc>aAc	p.I2N	NETO1_ENST00000580049.1_5'Flank|RP11-676J15.1_ENST00000578967.1_lincRNA|NETO1_ENST00000397929.1_5'Flank|NETO1_ENST00000299430.2_5'Flank|NETO1_ENST00000583169.1_Missense_Mutation_p.I2N	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	2					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCGCCCATGGATCATGTCTGT	0.662																																																	0													35	33	34					18																	70534522		2202	4299	6501	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.5T>A	18.37:g.70534522A>T	ENSP00000313088:p.Ile2Asn		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.I2N	ENST00000327305.6	37	c.5	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569650	0.65765	.	.	ENSG00000166342	ENST00000327305	T	0.24908	1.83	4.37	4.37	0.52481	.	0.285984	0.21979	N	0.066322	T	0.15565	0.0375	N	0.14661	0.345	0.80722	D	1	P	0.44090	0.826	B	0.37943	0.261	T	0.06409	-1.0828	10	0.87932	D	0	-6.2751	12.6903	0.56970	1.0:0.0:0.0:0.0	.	2	Q8TDF5	NETO1_HUMAN	N	2	ENSP00000313088:I2N	ENSP00000313088:I2N	I	-	2	0	NETO1	68685502	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.397000	0.66302	1.828000	0.53243	0.374000	0.22700	ATC	NETO1	-	NULL	ENSG00000166342		0.662	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0	15	0	A	NM_138999		70534522	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	T	T	70534522	A	T	70534522	3	4	22	1	0	0	0	0	1	0	0	0	10378	333	12	5	1674	5	NETO1	18	70534522	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	6361994	70534522	7542726	241	6087											
ZNF561	93134	genome.wustl.edu	37	chr19	9721115	9721115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttttcaaatgtttactacGacgggaagaagtaatgaagg	15	11	11	4	2	1	2	1	1	0	1	1	4	1	3	0	2	2	3	0	2	7	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:9721115G>A	ENST00000302851.3	-	6	1585	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.R272C|ZNF561_ENST00000424629.1_Missense_Mutation_p.R339C	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TGTTTACTACGACGGGAAGAA	0.403																																																	0													131	126	127					19																	9721115		2203	4300	6503	SO:0001583	missense	0			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"Zinc fingers, C2H2-type", "-"	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1222C>T	19.37:g.9721115G>A	ENSP00000303915:p.Arg408Cys		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R408C	ENST00000302851.3	37	c.1222	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	G	7.630	0.678709	0.14841	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.07444	3.19;3.19;3.19	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	L	0.45581	1.43	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.27331	-1.0077	9	0.87932	D	0	.	8.1044	0.30877	0.0:0.0:1.0:0.0	.	408	Q8N587	ZN561_HUMAN	C	339;408;272	ENSP00000393074:R339C;ENSP00000303915:R408C;ENSP00000346687:R272C	ENSP00000303915:R408C	R	-	1	0	ZNF561	9582115	0.035000	0.19736	0.001000	0.08648	0.084000	0.17831	1.763000	0.38461	0.905000	0.36596	0.298000	0.19748	CGT	ZNF561	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171469		0.403	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	-	0	48	0	G	NM_152289		9721115	-1	tier1	-	no_errors	ENST00000302851	ensembl	human	known	74_37	missense	77.59	13	45	SNP	0.003	A	A	9721115	G	A	9721115	3	1	22	1	0	0	0	0	1	0	0	0	18040	1058	37	1	242	1	ZNF561	19	9721115	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		9721115	49407868	242	6088											
UNC13A	23025	genome.wustl.edu	37	chr19	17758183	17758183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaccgcgaagatctcctgGatgagctcgaagatctcggg	9	8	13	11	4	3	3	1	1	2	2	6	6	3	4	2	2	1	1	2	2	2	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:17758183G>T	ENST00000519716.2	-	17	1934	c.1935C>A	c.(1933-1935)atC>atA	p.I645I	UNC13A_ENST00000551649.1_Silent_p.I645I|UNC13A_ENST00000552293.1_Silent_p.I645I|UNC13A_ENST00000550896.1_Silent_p.I643I|UNC13A_ENST00000252773.7_Silent_p.I645I|UNC13A_ENST00000428389.2_Silent_p.I733I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	645					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGATCTCCTGGATGAGCTCGA	0.607																																																	0													69	74	72					19																	17758183		2150	4273	6423	SO:0001819	synonymous_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1935C>A	19.37:g.17758183G>T			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I733	ENST00000519716.2	37	c.2199	CCDS46013.2	19																																																																																			UNC13A	-	NULL	ENSG00000130477		0.607	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0	34	0	G	XM_038604		17758183	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	T	T	17758183	G	T	17758183	2	4	22	1	0	0	0	0	0	0	0	1	17033	1164	41	3		3	UNC13A	19	17758183	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	8037068	17758183	41370800	243	6089											
ZNF208	7757	genome.wustl.edu	37	chr19	22155862	22155862	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggcttctctccagcatgAattgccttatgtgtagtaag	9	14	10	8	0	1	1	0	1	1	0	3	1	2	1	2	1	2	4	2	1	5	6			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:22155862A>G	ENST00000397126.4	-	4	2122	c.1974T>C	c.(1972-1974)atT>atC	p.I658I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGCATGAATTGCCTTAT	0.383																																																	0													71	77	75					19																	22155862		2086	4242	6328	SO:0001819	synonymous_variant	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1974T>C	19.37:g.22155862A>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I658	ENST00000397126.4	37	c.1974	CCDS54240.1	19																																																																																			ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	73	0	A	NM_007153		22155862	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	silent	90.57	5	48	SNP	0.126	G	G	22155862	A	G	22155862	2	3	22	1	0	0	0	0	0	0	0	1	17814	242	9	4		4	ZNF208	19	22155862	Silent	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	4397679	22155862	36973121	244	6090											
ZNF585B	92285	genome.wustl.edu	37	chr19	37681019	37681019	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgccattcctctctgctgaAatcgatagccacatccctga	9	10	6	16	2	1	2	0	2	1	0	5	3	3	2	5	0	2	1	5	0	2	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:37681019A>T	ENST00000532828.2	-	3	357	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	ZNF585B_ENST00000531805.1_5'UTR|ZNF585B_ENST00000586320.1_Missense_Mutation_p.F21I|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.F36I|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.F36I	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCTGCTGAAATCGATAGCC	0.512																																					Melanoma(93;882 1454 18863 28917 48427)												0													105	90	95					19																	37681019		2203	4300	6503	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.106T>A	19.37:g.37681019A>T	ENSP00000433773:p.Phe36Ile		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F36I	ENST00000532828.2	37	c.106	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510096	0.64522	.	.	ENSG00000245680	ENST00000532828;ENST00000527838	T;T	0.14640	2.49;2.49	3.11	2.08	0.27032	Krueppel-associated box (4);	0.000000	0.36815	N	0.002388	T	0.46367	0.1389	H	0.97682	4.055	0.80722	D	1	D	0.56287	0.975	D	0.76071	0.987	T	0.45542	-0.9254	10	0.87932	D	0	.	6.2802	0.21003	0.8688:0.0:0.1312:0.0	.	36	Q52M93	Z585B_HUMAN	I	36	ENSP00000433773:F36I;ENSP00000435268:F36I	ENSP00000435268:F36I	F	-	1	0	ZNF585B	42372859	0.992000	0.36948	0.997000	0.53966	0.780000	0.44128	2.306000	0.43673	0.403000	0.25479	0.397000	0.26171	TTC	ZNF585B	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000245680		0.512	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0	50	0	A	NM_152279		37681019	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	18.02	91	20	SNP	0.990	T	T	37681019	A	T	37681019	3	4	22	1	0	0	0	0	1	0	0	0	18066	14	1	5	2215	5	ZNF585B	19	37681019	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	15525157	37681019	21447964	245	6091											
HNRNPUL1	11100	genome.wustl.edu	37	chr19	41807528	41807528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtaatttgtcccactgacGaggacctaaaagaccgaaca	14	9	8	10	2	0	2	0	1	0	1	1	5	1	3	3	1	1	1	3	1	4	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:41807528G>A	ENST00000392006.3	+	11	1779	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E447K|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E436K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E422K|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E436K|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E436K|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E536K	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	536	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCCACTGACGAGGACCTAAA	0.458																																																	0													147	128	134					19																	41807528		2203	4300	6503	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1606G>A	19.37:g.41807528G>A	ENSP00000375863:p.Glu536Lys		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.E536K	ENST00000392006.3	37	c.1606	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.155744	0.97334	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	6.06	6.06	0.98353	.	0.047878	0.85682	D	0.000000	T	0.72220	0.3433	M	0.80508	2.5	0.54753	D	0.999986	D;D;D;D;D;D	0.89917	0.978;0.987;1.0;1.0;0.978;0.993	P;P;D;D;P;P	0.73708	0.832;0.903;0.981;0.944;0.832;0.843	T	0.73959	-0.3818	10	0.87932	D	0	-25.0351	19.3958	0.94607	0.0:0.0:1.0:0.0	.	447;436;536;422;536;436	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	K	436;536;422;447	ENSP00000340857:E436K;ENSP00000375863:E536K;ENSP00000367460:E422K;ENSP00000263367:E447K	ENSP00000263367:E447K	E	+	1	0	HNRNPUL1	46499368	1.000000	0.71417	0.982000	0.44146	0.916000	0.54674	6.720000	0.74723	2.879000	0.98667	0.650000	0.86243	GAG	HNRNPUL1	-	superfamily_P-loop_NTPase	ENSG00000105323		0.458	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	-	0	28	0	G	NM_144732, NM_007040		41807528	1	tier1	-	no_errors	ENST00000392006	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	A	A	41807528	G	A	41807528	3	1	22	1	0	0	0	0	1	0	0	0	7301	1059	37	1	1648	1	HNRNPUL1	19	41807528	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	4126509	41807528	17321455	246	6092											
ZFP112	7771	genome.wustl.edu	37	chr19	44832455	44832455	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggactctctgatggccttGaaggtgtgaactccgactga	8	11	13	9	1	1	4	0	4	1	0	3	6	2	5	2	3	1	0	2	3	2	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:44832455G>A	ENST00000337401.4	-	5	1961	c.1873C>T	c.(1873-1875)Caa>Taa	p.Q625*	ZNF112_ENST00000354340.4_Nonsense_Mutation_p.Q619*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q642*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q625E(1)|p.Q619E(1)									TGATGGCCTTGAAGGTGTGAA	0.458																																																	2	Substitution - Missense(2)	breast(2)											137	134	135					19																	44832455		2203	4300	6503	SO:0001587	stop_gained	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"Zinc fingers, C2H2-type"	12892	protein-coding gene	gene with protein product		603994	"zinc finger protein 112 homolog (mouse)", "zinc finger protein 228"	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1873C>T	19.37:g.44832455G>A	ENSP00000337081:p.Gln625*		A4FU53|Q9HCA7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q642*	ENST00000337401.4	37	c.1924	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.568377	0.96540	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	5.0	2.76	0.32466	.	0.000000	0.32918	N	0.005496	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-22.0701	3.2904	0.06947	0.0947:0.2822:0.466:0.1571	.	.	.	.	X	625;625;619;642;624	.	ENSP00000253426:Q624X	Q	-	1	0	ZNF285	49524295	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.556000	0.05992	2.484000	0.83849	0.655000	0.94253	CAA	ZNF112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000062370		0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF112	HGNC	protein_coding	OTTHUMT00000460744.1	-	0	69	0	G	NM_013380		44832455	-1	tier1	-	no_errors	ENST00000536500	ensembl	human	known	74_37	nonsense	26.09	85	30	SNP	0.442	A	A	44832455	G	A	44832455	4	1	22	1	0	0	0	0	0	1	0	0	17686	1299	45	3	872	3	ZFP112	19	44832455	Nonsense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	3024927	44832455	14296528	247	6093											
NKPD1	284353	genome.wustl.edu	37	chr19	45655768	45655769	+	In_Frame_Ins	INS	-	-	CTG																															gtggggcccccaaagtccccINSctgctgctgctgctgctgca																								rs200529734	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:45655768_45655769insCTG	ENST00000438936.2	-	3	1471_1472	c.1260_1261insCAG	c.(1258-1263)cagggg>cagCAGggg	p.420_421insQ	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_In_Frame_Ins_p.420_421insQ|NKPD1_ENST00000429338.1_In_Frame_Ins_p.420_421insQ|NKPD1_ENST00000317951.4_In_Frame_Ins_p.642_643insQ			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	420	Poly-Gln.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCAAAGTCCCCCTGCTGCTGCT	0.698														41	0.0081869	0.0265	0.0072	5008	,	,		16190	0.001		0	False		,,,				2504	0																0																																										SO:0001652	inframe_insertion	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1258_1260dupCAG	19.37:g.45655775_45655777dupCTG	ENSP00000401739:p.Gln420_Gln420dup		B7ZLG6|D6RH15|Q8N2A2	In_Frame_Ins	INS	pfam_KAP_NTPase	p.642in_frame_insQ	ENST00000438936.2	37	c.1927_1926		19																																																																																			NKPD1	-	NULL	ENSG00000179846		0.698	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2		0	26	0	-	NM_198478		45655769	-1	tier1		no_errors	ENST00000317951	ensembl	human	known	74_37	in_frame_ins	36.59	26	15	INS	0.836:0.910	CTG	CTG	45655769	-	CTG	45655768	7	5	22	1	0	1	1	0	0	0	0	0	10485	623	22	0	575	0	NKPD1	19	45655768	In_Frame_Ins	INS	-	TCGA-IG-A4QS-01A-11D-A27G-09	823313	45655768	13473215	248	6094											
C5AR1	728	genome.wustl.edu	37	chr19	47823632	47823632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgacaaacggcgggagCgagccgtggccatcgtccgg	8	3	16	14	7	0	0	0	0	0	0	2	3	1	1	4	4	3	0	4	4	1	0	rs555043742		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:47823632C>T	ENST00000355085.3	+	2	620	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	200					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGGCGGGAGCGAGCCGTGGC	0.612																																																	0													71	78	76					19																	47823632		2201	4293	6494	SO:0001587	stop_gained	0				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.598C>T	19.37:g.47823632C>T	ENSP00000347197:p.Arg200*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt	p.R200*	ENST00000355085.3	37	c.598	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	c	16.86	3.239563	0.58995	.	.	ENSG00000197405	ENST00000355085	.	.	.	4.96	-1.85	0.07784	.	1.338420	0.04470	U	0.375840	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	0.8327	0.01134	0.47:0.1411:0.1615:0.2274	.	.	.	.	X	200	.	ENSP00000347197:R200X	R	+	1	2	C5AR1	52515472	0.000000	0.05858	0.011000	0.14972	0.019000	0.09904	-1.488000	0.02308	-0.064000	0.13043	0.472000	0.43445	CGA	C5AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197405		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	-	0	83	0	C	NM_001736		47823632	1	tier1	-	no_errors	ENST00000355085	ensembl	human	known	74_37	nonsense	24.21	71	23	SNP	0.000	T	T	47823632	C	T	47823632	4	4	22	1	0	0	0	0	0	1	0	0	2288	760	27	1	603	1	C5AR1	19	47823632	Nonsense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	2167864	47823632	11305351	249	6095											
ZNF577	84765	genome.wustl.edu	37	chr19	52383627	52383628	+	Frame_Shift_Ins	INS	-	-	T																															cagacattacaatcgtggcaINStttttcatgtgtttcctgtt																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:52383627_52383628insT	ENST00000301399.5	-	4	373_374	c.8_9insA	c.(7-9)aatfs	p.N3fs	ZNF577_ENST00000412216.1_Frame_Shift_Ins_p.N3fs|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Frame_Shift_Ins_p.N3fs|ZNF577_ENST00000420592.1_Frame_Shift_Ins_p.N3fs	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		caatcgtggcatttttcatgtg	0.421																																																	0																																										SO:0001589	frameshift_variant	0			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"Zinc fingers, C2H2-type", "-"	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.9dupA	19.37:g.52383632_52383632dupT	ENSP00000301399:p.Asn3fs		A8K0B4|A8K6Z7|C9JFB9	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N3fs	ENST00000301399.5	37	c.9_8	CCDS12842.2	19																																																																																			ZNF577	-	NULL	ENSG00000161551		0.421	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1		0	19	0	-	NM_032679		52383628	-1	tier1		no_errors	ENST00000301399	ensembl	human	known	74_37	frame_shift_ins	20.00	28	7	INS	0.000:0.000	T	T	52383628	-	T	52383627	7	5	22	1	0	1	1	0	0	0	0	0	18057	214	8	0	1464	0	ZNF577	19	52383627	Frame_Shift_Ins	INS	-	TCGA-IG-A4QS-01A-11D-A27G-09	4559995	52383627	6745356	250	6096											
LILRA3	11026	genome.wustl.edu	37	chr19	54802638	54802638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggctgccggccagggCgctggaggaagtcacgtccc	5	5	17	14	3	1	0	1	0	0	0	2	2	2	2	4	6	1	2	4	6	1	0	rs142052637	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:54802638C>T	ENST00000251390.3	-	5	894	c.803G>A	c.(802-804)cGc>cAc	p.R268H	LILRA3_ENST00000391745.1_Missense_Mutation_p.R285H|LILRA3_ENST00000391744.3_Missense_Mutation_p.R204H	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	268	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R268L(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGGCCAGGGCGCTGGAGGAA	0.647																																																	1	Substitution - Missense(1)	NS(1)											54	50	51					19																	54802638		2195	4177	6372	SO:0001583	missense	0			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.803G>A	19.37:g.54802638C>T	ENSP00000251390:p.Arg268His		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.R268H	ENST00000251390.3	37	c.803	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.398726	0.01175	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00753	5.74;5.74;5.74	2.03	-4.05	0.03998	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.471400	0.01698	N	0.027025	T	0.00875	0.0029	L	0.35723	1.085	0.09310	N	1	B;B	0.19935	0.04;0.003	B;B	0.26614	0.071;0.015	T	0.48896	-0.8994	10	0.15066	T	0.55	.	7.3486	0.26678	0.0:0.4073:0.0:0.5927	.	268;268	E7EU74;Q8N6C8	.;LIRA3_HUMAN	H	268;204;285	ENSP00000251390:R268H;ENSP00000375624:R204H;ENSP00000375625:R285H	ENSP00000251390:R268H	R	-	2	0	LILRA3	59494450	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.700000	0.05081	-1.091000	0.03065	-0.435000	0.05868	CGC	LILRA3	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000170866		0.647	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	-	0	71	0	C			54802638	-1	tier1	-	no_errors	ENST00000251390	ensembl	human	known	74_37	missense	9.63	122	13	SNP	0.000	T	T	54802638	C	T	54802638	3	4	22	1	0	0	0	0	1	0	0	0	8815	768	27	1	528	1	LILRA3	19	54802638	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	2419011	54802638	4326345	251	6097											
LILRA4	23547	genome.wustl.edu	37	chr19	54849483	54849483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccacagggcttggcagtgCggacagggtgggtctgctgt	6	8	17	10	1	1	0	0	0	1	0	1	1	1	1	1	5	2	3	1	5	0	1			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:54849483C>T	ENST00000291759.4	-	4	435	c.379G>A	c.(379-381)Gca>Aca	p.A127T	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	127	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A127T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTTGGCAGTGCGGACAGGGTG	0.572																																																	1	Substitution - Missense(1)	central_nervous_system(1)											47	50	49					19																	54849483		2203	4300	6503	SO:0001583	missense	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.379G>A	19.37:g.54849483C>T	ENSP00000291759:p.Ala127Thr		Q32MC4	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.A127T	ENST00000291759.4	37	c.379	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	10.50	1.368934	0.24771	.	.	ENSG00000239961	ENST00000291759	T	0.03272	3.99	2.65	0.334	0.15948	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.429774	0.20036	N	0.100608	T	0.12390	0.0301	M	0.83483	2.645	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.08046	-1.0741	10	0.87932	D	0	.	3.1054	0.06340	0.262:0.5852:0.0:0.1528	.	127	P59901	LIRA4_HUMAN	T	127	ENSP00000291759:A127T	ENSP00000291759:A127T	A	-	1	0	LILRA4	59541295	0.909000	0.30893	0.030000	0.17652	0.001000	0.01503	1.355000	0.34068	0.165000	0.19558	-0.251000	0.11542	GCA	LILRA4	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000239961		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	-	0	38	0	C	NM_012276		54849483	-1	tier1	-	no_errors	ENST00000291759	ensembl	human	known	74_37	missense	27.36	77	29	SNP	0.035	T	T	54849483	C	T	54849483	3	4	22	1	0	0	0	0	1	0	0	0	8816	768	27	1	1140	1	LILRA4	19	54849483	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	46845	54849483	4279500	252	6098											
NLRP13	126204	genome.wustl.edu	37	chr19	56416458	56416458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcctgacagctggctgccGacaagttgcatttctccagg	7	10	12	12	1	1	1	0	1	1	0	3	2	2	1	3	3	3	4	3	3	1	2	rs367708599		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:56416458G>A	ENST00000342929.3	-	8	2467	c.2468C>T	c.(2467-2469)tCg>tTg	p.S823L	NLRP13_ENST00000588751.1_Missense_Mutation_p.S823L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	823							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTGGCTGCCGACAAGTTGCA	0.527																																																	0								G	LEU/SER	0,4406		0,0,2203	118	91	100		2468	-1.4	0	19		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP13	NM_176810.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	823/1044	56416458	1,13005	2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2468C>T	19.37:g.56416458G>A	ENSP00000343891:p.Ser823Leu		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S823L	ENST00000342929.3	37	c.2468	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056178	0.19907	0.0	1.16E-4	ENSG00000173572	ENST00000342929	T	0.56103	0.48	2.19	-1.36	0.09085	.	.	.	.	.	T	0.58104	0.2099	M	0.82323	2.585	0.09310	N	1	D	0.61697	0.99	P	0.50270	0.636	T	0.52749	-0.8534	9	0.72032	D	0.01	.	5.1665	0.15088	0.4787:0.0:0.5213:0.0	.	823	Q86W25	NAL13_HUMAN	L	823	ENSP00000343891:S823L	ENSP00000343891:S823L	S	-	2	0	NLRP13	61108270	0.001000	0.12720	0.015000	0.15790	0.005000	0.04900	0.692000	0.25482	-0.204000	0.10235	-0.229000	0.12294	TCG	NLRP13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000173572		0.527	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	-	0	61	0	G	NM_176810		56416458	-1	tier1	-	no_errors	ENST00000342929	ensembl	human	known	74_37	missense	34.88	56	30	SNP	0.015	A	A	56416458	G	A	56416458	3	1	22	1	0	0	0	0	1	0	0	0	10514	1059	37	1	677	1	NLRP13	19	56416458	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1566975	56416458	2712525	253	6099											
ZSCAN5A	79149	genome.wustl.edu	37	chr19	56736039	56736039	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtcccactcacccatttcTtgggtcttctgttatttcgt	4	17	8	12	1	4	0	1	0	3	0	6	0	5	0	2	2	0	1	2	2	1	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:56736039T>G	ENST00000587340.1	-	4	1072	c.377A>C	c.(376-378)aAg>aCg	p.K126T	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.K126T|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.K126T|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	126	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACCCATTTCTTGGGTCTTCT	0.587																																																	0													26	27	26					19																	56736039		2145	4211	6356	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.377A>C	19.37:g.56736039T>G	ENSP00000467631:p.Lys126Thr		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K126T	ENST00000587340.1	37	c.377	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665362	0.47677	.	.	ENSG00000131848	ENST00000391713	T	0.06687	3.27	2.27	-1.45	0.08828	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (1);	.	.	.	.	T	0.21590	0.0520	M	0.80422	2.495	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11179	-1.0598	9	0.45353	T	0.12	.	2.1786	0.03868	0.2385:0.3133:0.0:0.4482	.	126	Q9BUG6	ZSA5A_HUMAN	T	126	ENSP00000375593:K126T	ENSP00000375593:K126T	K	-	2	0	ZSCAN5A	61427851	0.001000	0.12720	0.012000	0.15200	0.637000	0.38172	0.329000	0.19698	-0.460000	0.07003	0.402000	0.26972	AAG	ZSCAN5A	-	superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN	ENSG00000131848		0.587	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	-	0	148	0	T	NM_024303		56736039	-1	tier1	-	no_errors	ENST00000391713	ensembl	human	known	74_37	missense	15.53	136	25	SNP	0.017	G	G	56736039	T	G	56736039	3	3	22	1	0	0	0	0	1	0	0	0	18286	1609	56	4	1129	4	ZSCAN5A	19	56736039	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	319581	56736039	2392944	254	6100											
ZNF329	79673	genome.wustl.edu	37	chr19	58640556	58640556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatagctgggtaaggcGgggtcacaatccagaccact	11	8	13	9	1	1	1	1	0	0	1	2	2	2	2	2	5	1	2	2	5	4	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:58640556G>A	ENST00000598312.1	-	4	548	c.315C>T	c.(313-315)ccC>ccT	p.P105P	ZNF329_ENST00000358067.4_Silent_p.P105P	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGGTAAGGCGGGGTCACAAT	0.453																																																	0													113	112	112					19																	58640556		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.315C>T	19.37:g.58640556G>A			B3KR32|Q9H9R7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P105	ENST00000598312.1	37	c.315	CCDS12972.1	19																																																																																			ZNF329	-	NULL	ENSG00000181894		0.453	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	-	0	28	0	G	NM_024620		58640556	-1	tier1	-	no_errors	ENST00000358067	ensembl	human	known	74_37	silent	24.42	65	21	SNP	0.002	A	A	58640556	G	A	58640556	2	1	22	1	0	0	0	0	0	0	0	1	17895	1103	39	1		1	ZNF329	19	58640556	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	1904517	58640556	488427	255	6101											
ADRA1D	146	genome.wustl.edu	37	chr20	4202559	4202559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagtcctggcgcaggcCgctggtggaggcccgccagt	4	5	18	14	4	0	0	0	0	0	0	1	1	1	1	4	6	0	3	4	6	0	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:4202559C>T	ENST00000379453.4	-	2	1446	c.1330G>A	c.(1330-1332)Ggc>Agc	p.G444S		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	444					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGCGCAGGCCGCTGGTGGAG	0.786																																																	0													1	2	2					20																	4202559		1261	2716	3977	SO:0001583	missense	0			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"GPCR / Class A : Adrenoceptors : alpha"	280	protein-coding gene	gene with protein product		104219	"adrenergic, alpha-1D-, receptor"			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1330G>A	20.37:g.4202559C>T	ENSP00000368766:p.Gly444Ser		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM	p.G444S	ENST00000379453.4	37	c.1330	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746469	0.30955	.	.	ENSG00000171873	ENST00000379453	T	0.58506	0.33	3.64	0.318	0.15867	.	3.901960	0.01318	U	0.010853	T	0.36771	0.0979	N	0.16478	0.41	0.21984	N	0.99943	B	0.16166	0.016	B	0.06405	0.002	T	0.10590	-1.0623	10	0.10636	T	0.68	.	3.4197	0.07389	0.1798:0.4956:0.0:0.3246	.	444	P25100	ADA1D_HUMAN	S	444	ENSP00000368766:G444S	ENSP00000368766:G444S	G	-	1	0	ADRA1D	4150559	0.780000	0.28664	0.000000	0.03702	0.053000	0.15095	0.838000	0.27572	-0.036000	0.13669	0.585000	0.79938	GGC	ADRA1D	-	NULL	ENSG00000171873		0.786	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2	-	0	17	0	C	NM_000678		4202559	-1	tier1	-	no_errors	ENST00000379453	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.396	T	T	4202559	C	T	4202559	3	4	22	1	0	0	0	0	1	0	0	0	336	652	23	1	392	1	ADRA1D	20	4202559	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09		4202559	58822961	256	6102											
SPTLC3	55304	genome.wustl.edu	37	chr20	13055028	13055028	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatcaaagatgtcatcAacatgggctcctataacttc	13	11	7	10	0	4	1	4	0	0	1	6	2	5	1	1	1	2	1	1	1	4	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:13055028A>C	ENST00000399002.2	+	4	764	c.490A>C	c.(490-492)Aac>Cac	p.N164H	SPTLC3_ENST00000378194.4_Missense_Mutation_p.N164H	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	164					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGATGTCATCAACATGGGCTC	0.448																																																	0													102	102	102					20																	13055028		2015	4227	6242	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.490A>C	20.37:g.13055028A>C	ENSP00000381968:p.Asn164His		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.N164H	ENST00000399002.2	37	c.490	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362809	0.82353	.	.	ENSG00000172296	ENST00000399002;ENST00000378194;ENST00000450297	D;D;D	0.95756	-3.8;-3.8;-3.8	6.17	5.06	0.68205	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.041962	0.85682	D	0.000000	D	0.98232	0.9415	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98552	1.0637	10	0.87932	D	0	-30.9784	12.7907	0.57533	0.8771:0.0:0.0:0.1229	.	164	Q9NUV7	SPTC3_HUMAN	H	164;164;137	ENSP00000381968:N164H;ENSP00000367436:N164H;ENSP00000409125:N137H	ENSP00000367436:N164H	N	+	1	0	SPTLC3	13003028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.119000	0.41883	0.533000	0.62120	AAC	SPTLC3	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000172296		0.448	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	-	0	116	0	A	NM_018327		13055028	1	tier1	-	no_errors	ENST00000399002	ensembl	human	known	74_37	missense	10.21	211	24	SNP	1.000	C	C	13055028	A	C	13055028	3	2	22	1	0	0	0	0	1	0	0	0	15172	130	5	4	504	4	SPTLC3	20	13055028	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	8852469	13055028	49970492	257	6103											
SPTLC3	55304	genome.wustl.edu	37	chr20	13098334	13098334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgggcacattcaccaaaAgttttggagcttcaggaggt	11	11	11	8	0	3	0	3	0	0	0	3	2	3	2	1	4	1	3	1	4	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:13098334A>G	ENST00000399002.2	+	8	1388	c.1114A>G	c.(1114-1116)Agt>Ggt	p.S372G	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	372					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATTCACCAAAAGTTTTGGAGC	0.542																																																	0													74	76	75					20																	13098334		1903	4121	6024	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"chromosome 20 open reading frame 38", "serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1114A>G	20.37:g.13098334A>G	ENSP00000381968:p.Ser372Gly		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.S372G	ENST00000399002.2	37	c.1114	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753488	0.89753	.	.	ENSG00000172296	ENST00000399002	D	0.91577	-2.87	6.04	6.04	0.98038	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95660	0.8714	10	0.87932	D	0	-28.3063	16.5885	0.84745	1.0:0.0:0.0:0.0	.	372	Q9NUV7	SPTC3_HUMAN	G	372	ENSP00000381968:S372G	ENSP00000381968:S372G	S	+	1	0	SPTLC3	13046334	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	AGT	SPTLC3	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172296		0.542	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	-	0	30	0	A	NM_018327		13098334	1	tier1	-	no_errors	ENST00000399002	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	G	G	13098334	A	G	13098334	3	3	22	1	0	0	0	0	1	0	0	0	15172	72	3	4	1144	4	SPTLC3	20	13098334	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	43306	13098334	49927186	258	6104											
MACROD2	140733	genome.wustl.edu	37	chr20	16021881	16021881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctaggatgcctgggaaaAgtgaaggctccagtgaccta	12	7	12	10	0	0	2	0	2	0	0	1	4	1	4	4	3	1	1	4	3	5	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:16021881A>G	ENST00000310348.4	+	16	1189	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	MACROD2_ENST00000378058.3_Missense_Mutation_p.S162G|MACROD2_ENST00000217246.4_Missense_Mutation_p.S397G|MACROD2_ENST00000407045.3_Missense_Mutation_p.S48G|MACROD2_ENST00000402914.1_Missense_Mutation_p.S162G			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	397					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCCTGGGAAAAGTGAAGGCTC	0.463																																																	0													79	79	79					20																	16021881		2203	4299	6502	SO:0001583	missense	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1189A>G	20.37:g.16021881A>G	ENSP00000309809:p.Ser397Gly		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.S397G	ENST00000310348.4	37	c.1189	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	A	9.567	1.119967	0.20877	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.51071	2.07;2.31;0.72;0.72	5.37	2.93	0.34026	.	0.335652	0.26099	N	0.026349	T	0.34308	0.0893	L	0.44542	1.39	0.09310	N	1	P;B;B	0.41848	0.763;0.039;0.065	B;B;B	0.36845	0.234;0.05;0.109	T	0.28364	-1.0046	10	0.66056	D	0.02	-2.4228	6.6974	0.23207	0.6891:0.1587:0.0:0.1522	.	48;397;397	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	G	397;397;162;162;48	ENSP00000217246:S397G;ENSP00000309809:S397G;ENSP00000385290:S162G;ENSP00000367297:S162G	ENSP00000217246:S397G	S	+	1	0	MACROD2	15969881	0.990000	0.36364	0.396000	0.26296	0.166000	0.22503	1.496000	0.35638	0.965000	0.38133	0.533000	0.62120	AGT	MACROD2	-	NULL	ENSG00000172264		0.463	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	0	27	0	A	NM_080676		16021881	1	tier1	-	no_errors	ENST00000310348	ensembl	human	known	74_37	missense	25.53	30	12	SNP	0.053	G	G	16021881	A	G	16021881	3	3	22	1	0	0	0	0	1	0	0	0	9182	72	3	4	1251	4	MACROD2	20	16021881	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	2923547	16021881	47003639	259	6105											
PAX1	5075	genome.wustl.edu	37	chr20	21687512	21687512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaagtaagcagccgccGtcgcagcctacgctgcccta	9	5	12	15	4	0	0	0	0	0	0	1	1	0	0	4	1	5	5	4	1	4	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:21687512G>A	ENST00000398485.2	+	2	777	c.723G>A	c.(721-723)ccG>ccA	p.P241P	PAX1_ENST00000444366.2_Silent_p.P217P|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	241					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCAGCCGCCGTCGCAGCCTA	0.662																																																	0													35	41	39					20																	21687512		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.723G>A	20.37:g.21687512G>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.P241	ENST00000398485.2	37	c.723	CCDS13146.2	20																																																																																			PAX1	-	NULL	ENSG00000125813		0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	85	0	G			21687512	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	45.77	77	65	SNP	0.585	A	A	21687512	G	A	21687512	2	1	22	1	0	0	0	0	0	0	0	1	11517	1132	40	1		1	PAX1	20	21687512	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	5665631	21687512	41338008	260	6106											
HCK	3055	genome.wustl.edu	37	chr20	30659496	30659496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagtccaagttcctccagGtcggaggcaatacattctca	11	10	9	11	1	1	1	1	1	1	0	6	2	4	2	3	3	1	2	3	3	4	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:30659496G>T	ENST00000520553.1	+	2	277	c.31G>T	c.(31-33)Gtc>Ttc	p.V11F	HCK_ENST00000534862.1_Missense_Mutation_p.V12F|HCK_ENST00000538448.1_Missense_Mutation_p.V11F|HCK_ENST00000518730.1_Missense_Mutation_p.V11F|HCK_ENST00000375862.2_Missense_Mutation_p.V32F|HCK_ENST00000375852.2_Missense_Mutation_p.V32F	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	32					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTTCCTCCAGGTCGGAGGCAA	0.567																																																	0													123	105	111					20																	30659496		2203	4300	6503	SO:0001583	missense	0			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"SH2 domain containing"	4840	protein-coding gene	gene with protein product		142370	"hemopoietic cell kinase"			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.31G>T	20.37:g.30659496G>T	ENSP00000429848:p.Val11Phe		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.V32F	ENST00000520553.1	37	c.94	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	G	11.25	1.581906	0.28180	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.73897	-0.79;-0.78;-0.79;-0.78;-0.79;-0.79	4.28	-0.0832	0.13695	.	1.528840	0.03982	N	0.293422	T	0.58133	0.2101	N	0.08118	0	0.09310	N	1	B;B	0.22800	0.075;0.0	B;B	0.34452	0.183;0.001	T	0.52609	-0.8553	10	0.56958	D	0.05	.	3.6054	0.08041	0.1964:0.0:0.4372:0.3664	.	11;32	P08631-3;P08631	.;HCK_HUMAN	F	12;11;32;11;11;32	ENSP00000444986:V12F;ENSP00000441169:V11F;ENSP00000365022:V32F;ENSP00000429848:V11F;ENSP00000427757:V11F;ENSP00000365012:V32F	ENSP00000365012:V32F	V	+	1	0	HCK	30123157	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	0.005000	0.13129	-0.054000	0.13266	-0.681000	0.03757	GTC	HCK	-	NULL	ENSG00000101336		0.567	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	-	0	63	0	G			30659496	1	tier1	-	no_errors	ENST00000375852	ensembl	human	known	74_37	missense	18.37	80	18	SNP	0.000	T	T	30659496	G	T	30659496	3	4	22	1	0	0	0	0	1	0	0	0	7021	1261	44	3	106	3	HCK	20	30659496	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	8971984	30659496	32366024	261	6107											
KIAA1755	85449	genome.wustl.edu	37	chr20	36870238	36870238	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtcaccctggcgcaataAgagagggttgaggggtgcca	11	6	16	8	1	1	2	1	1	0	1	1	4	1	2	2	4	1	2	2	4	3	2	rs570239072		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:36870238A>C	ENST00000279024.4	-	3	566	c.295T>G	c.(295-297)Tta>Gta	p.L99V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	99										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGCGCAATAAGAGAGGGTTG	0.567																																																	0													73	72	72					20																	36870238		2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.295T>G	20.37:g.36870238A>C	ENSP00000279024:p.Leu99Val		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.L99V	ENST00000279024.4	37	c.295	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817799	0.32145	.	.	ENSG00000149633	ENST00000279024	T	0.09445	2.98	5.5	-3.45	0.04781	.	0.652243	0.12523	N	0.461519	T	0.11324	0.0276	M	0.73217	2.22	0.09310	N	1	P	0.46395	0.877	B	0.40741	0.339	T	0.15178	-1.0446	10	0.33940	T	0.23	.	8.8463	0.35172	0.3645:0.1225:0.513:0.0	.	99	Q5JYT7	K1755_HUMAN	V	99	ENSP00000279024:L99V	ENSP00000279024:L99V	L	-	1	2	KIAA1755	36303652	1.000000	0.71417	0.017000	0.16124	0.315000	0.28087	1.436000	0.34980	-0.437000	0.07243	0.459000	0.35465	TTA	KIAA1755	-	NULL	ENSG00000149633		0.567	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0	48	0	A	NM_001029864		36870238	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	25.40	47	16	SNP	0.081	C	C	36870238	A	C	36870238	3	2	22	1	0	0	0	0	1	0	0	0	8284	69	3	4	3355	4	KIAA1755	20	36870238	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	6210742	36870238	26155282	262	6108											
GNAS	2778	genome.wustl.edu	37	chr20	57430199	57430199	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcgatctgagagtcccCagcccaaagcctcgcgctct	7	8	10	16	4	2	1	0	1	2	1	6	3	3	1	4	1	2	1	4	1	1	0			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:57430199C>T	ENST00000371100.4	+	1	2431	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q627*|GNAS_ENST00000306120.3_Silent_p.P563P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q627*|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAGAGTCCCCAGCCCAAAGC	0.627			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													24	28	27					20																	57430199		1973	4157	6130	SO:0001587	stop_gained	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1879C>T	20.37:g.57430199C>T	ENSP00000360141:p.Gln627*		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.Q627*	ENST00000371100.4	37	c.1879	CCDS46622.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.530685|3.530685	0.64860|0.64860	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371099;ENST00000371100;ENST00000371102	D|.	0.88896|.	-2.44|.	3.84|3.84	-2.13|-2.13	0.07144|0.07144	.|.	.|5.153130	.|0.00935	.|N	.|0.002768	T|.	0.51466|.	0.1676|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56111|.	-0.8033|.	6|.	0.49607|0.46703	T|T	0.09|0.11	.|.	15.318|15.318	0.74095|0.74095	0.0:0.2501:0.7499:0.0|0.0:0.2501:0.7499:0.0	.|.	.|.	.|.	.|.	L|X	13|627	ENSP00000412424:P13L|.	ENSP00000412424:P13L|ENSP00000360140:Q627X	P|Q	+|+	2|1	0|0	GNAS|GNAS	56863594|56863594	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.091000|0.091000	0.18340|0.18340	0.391000|0.391000	0.20784|0.20784	-0.446000|-0.446000	0.07149|0.07149	-0.502000|-0.502000	0.04539|0.04539	CCA|CAG	GNAS	-	NULL	ENSG00000087460		0.627	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	-	0	34	0	C	NM_000516		57430199	1	tier1	-	no_errors	ENST00000371100	ensembl	human	putative	74_37	nonsense	38.46	32	20	SNP	0.001	T	T	57430199	C	T	57430199	4	4	22	1	0	0	0	0	0	1	0	0	6536	595	21	3	2623	3	GNAS	20	57430199	Nonsense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	20559961	57430199	5595321	263	6109											
CDH26	60437	genome.wustl.edu	37	chr20	58587737	58587737	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggactctttgggttcaaaAgcgactccgtttgaggaaat	10	12	11	8	2	2	1	1	1	1	0	3	4	3	3	1	3	1	2	1	3	3	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:58587737A>G	ENST00000244047.5	+	15	2483				CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Silent_p.K817K|CDH26_ENST00000244049.3_Silent_p.K109K|CDH26_ENST00000350849.6_Silent_p.K150K			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGGTTCAAAAGCGACTCCGT	0.458																																																	0													91	91	91					20																	58587737		2203	4300	6503	SO:0001627	intron_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5895A>G	20.37:g.58587737A>G			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K817	ENST00000244047.5	37	c.2451		20																																																																																			CDH26	-	NULL	ENSG00000124215		0.458	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		-	0	44	0	A	NM_177980		58587737	1	tier1	-	no_errors	ENST00000348616	ensembl	human	known	74_37	silent	8.57	64	6	SNP	0.000	G	G	58587737	A	G	58587737	1	3	22	0	1	0	0	0	0	0	0	0	3117	69	3	4		4	CDH26	20	58587737	Intron	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	1157538	58587737	4437783	264	6110											
ZNF512B	57473	genome.wustl.edu	37	chr20	62598760	62598760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcggagggcctggttctCggcttttggccgcccctttt	1	14	13	13	3	2	0	0	0	2	0	4	1	2	1	4	5	0	2	4	5	0	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:62598760C>T	ENST00000450537.1	-	3	298	c.238G>A	c.(238-240)Gag>Aag	p.E80K	ZNF512B_ENST00000217130.3_Missense_Mutation_p.E80K|ZNF512B_ENST00000369888.1_Missense_Mutation_p.E80K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCTGGTTCTCGGCTTTTGGC	0.617																																																	0													138	133	135					20																	62598760		2203	4300	6503	SO:0001583	missense	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.238G>A	20.37:g.62598760C>T	ENSP00000393795:p.Glu80Lys		Q08AK9|Q9ULM4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E80K	ENST00000450537.1	37	c.238	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014238	0.75161	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.39056	1.1;1.1;1.1	5.37	4.42	0.53409	.	0.056264	0.64402	D	0.000001	T	0.50394	0.1613	L	0.32530	0.975	0.39438	D	0.967208	D	0.76494	0.999	D	0.63192	0.912	T	0.56541	-0.7962	10	0.87932	D	0	-41.1837	13.7784	0.63069	0.1537:0.8463:0.0:0.0	.	80	Q96KM6	Z512B_HUMAN	K	80	ENSP00000358904:E80K;ENSP00000393795:E80K;ENSP00000217130:E80K	ENSP00000217130:E80K	E	-	1	0	ZNF512B	62069204	1.000000	0.71417	0.990000	0.47175	0.302000	0.27658	6.698000	0.74608	1.241000	0.43820	-0.314000	0.08810	GAG	ZNF512B	-	NULL	ENSG00000196700		0.617	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	-	0	67	0	C	NM_020713		62598760	-1	tier1	-	no_errors	ENST00000217130	ensembl	human	known	74_37	missense	22.03	92	26	SNP	0.995	T	T	62598760	C	T	62598760	3	4	22	1	0	0	0	0	1	0	0	0	18005	893	31	1	2500	1	ZNF512B	20	62598760	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	4011023	62598760	426760	265	6111											
LIPI	149998	genome.wustl.edu	37	chr21	15535844	15535844	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaatagcttggcttgataaCctgagatttgagaaatagaa	16	12	9	4	0	0	4	0	3	0	3	0	6	0	4	1	1	2	2	1	1	7	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr21:15535844C>T	ENST00000536861.1	-	7	901	c.902G>A	c.(901-903)gGt>gAt	p.G301D	LIPI_ENST00000344577.2_Splice_Site_p.G322D			Q6XZB0	LIPI_HUMAN	lipase, member I	301					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGCTTGATAACCTGAGATTTG	0.323																																																	0													81	87	85					21																	15535844		2203	4297	6500	SO:0001630	splice_region_variant	0			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"membrane-associated phospholipase A1 beta", "cancer/testis antigen 17"	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.902-1G>A	21.37:g.15535844C>T			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.G322D	ENST00000536861.1	37	c.965		21	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349928	0.41599	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.98493	-4.96;-4.96	5.18	4.3	0.51218	.	0.098730	0.64402	D	0.000001	D	0.99190	0.9719	H	0.97158	3.95	0.31875	N	0.619194	D	0.71674	0.998	D	0.70487	0.969	D	0.98169	1.0451	10	0.87932	D	0	.	11.0668	0.47980	0.0:0.9116:0.0:0.0884	.	322	Q6XZB0-2	.	D	322;301	ENSP00000343331:G322D;ENSP00000440381:G301D	ENSP00000343331:G322D	G	-	2	0	LIPI	14457715	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	2.659000	0.46741	1.317000	0.45149	0.591000	0.81541	GGT	LIPI	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000188992		0.323	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding		-	0	44	0	C	NM_198996	Missense_Mutation	15535844	-1	tier1	-	no_errors	ENST00000344577	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T	T	15535844	C	T	15535844	5	4	22	1	0	0	0	0	0	0	1	0	8855	521	18	3	496	3	LIPI	21	15535844	Splice_Site	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09		15535844	32594051	266	6112											
CHODL	140578	genome.wustl.edu	37	chr21	19635123	19635123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaggtataattcccaatcTaatttatgttgttataccaa	13	17	5	6	0	1	0	0	0	1	0	2	0	2	0	2	1	1	4	2	1	9	10			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr21:19635123T>C	ENST00000299295.2	+	5	1041	c.650T>C	c.(649-651)cTa>cCa	p.L217P	CHODL_ENST00000338326.3_Intron|CHODL_ENST00000400135.1_Intron|CHODL_ENST00000400128.1_Missense_Mutation_p.L176P|CHODL_ENST00000400131.1_Intron|CHODL_ENST00000400127.1_Missense_Mutation_p.L176P|CHODL_ENST00000543733.1_Missense_Mutation_p.L198P	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	217					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ATTCCCAATCTAATTTATGTT	0.313																																																	0													119	119	119					21																	19635123		2203	4297	6500	SO:0001583	missense	0			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.650T>C	21.37:g.19635123T>C	ENSP00000299295:p.Leu217Pro		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L217P	ENST00000299295.2	37	c.650	CCDS13570.1	21	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173147	0.78452	.	.	ENSG00000154645	ENST00000400128;ENST00000400127;ENST00000299295;ENST00000543733	T;T;T;T	0.25085	1.88;1.88;1.82;1.85	5.39	5.39	0.77823	.	0.067384	0.64402	D	0.000009	T	0.51143	0.1657	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51458	-0.8703	9	.	.	.	-9.3571	14.8891	0.70594	0.0:0.0:0.0:1.0	.	217	Q9H9P2	CHODL_HUMAN	P	176;176;217;198	ENSP00000382993:L176P;ENSP00000382992:L176P;ENSP00000299295:L217P;ENSP00000443566:L198P	.	L	+	2	0	CHODL	18556994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.170000	0.68504	0.533000	0.62120	CTA	CHODL	-	NULL	ENSG00000154645		0.313	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	HGNC	protein_coding	OTTHUMT00000158232.1	-	0	41	0	T	NM_024944		19635123	1	tier1	-	no_errors	ENST00000299295	ensembl	human	known	74_37	missense	76.60	11	36	SNP	1.000	C	C	19635123	T	C	19635123	3	2	22	1	0	0	0	0	1	0	0	0	3371	1522	53	4	668	4	CHODL	21	19635123	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	4099279	19635123	28494772	267	6113											
LZTR1	8216	genome.wustl.edu	37	chr22	21348441	21348441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagggaggcccccggcgtgGctgctggtggggcccggccg	2	4	20	15	4	0	0	0	0	0	0	0	1	0	1	5	8	1	2	5	8	0	0	rs377075596		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:21348441G>T	ENST00000215739.8	+	14	1857	c.1498G>T	c.(1498-1500)Gct>Tct	p.A500S	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.A481S	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	500	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCCGGCGTGGCTGCTGGTGG	0.697																																																	0													5	7	7					22																	21348441		2104	4104	6208	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1498G>T	22.37:g.21348441G>T	ENSP00000215739:p.Ala500Ser		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A500S	ENST00000215739.8	37	c.1498	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223221	0.09863	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.56275	0.88;0.47	5.19	3.03	0.35002	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.873277	0.10296	N	0.691779	T	0.22936	0.0554	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.15473	0.001;0.009;0.001;0.013	B;B;B;B	0.16289	0.001;0.011;0.001;0.015	T	0.23833	-1.0177	10	0.09590	T	0.72	-2.6163	7.8409	0.29397	0.0858:0.3072:0.607:0.0	.	481;459;500;459	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	S	459;500;481	ENSP00000215739:A500S;ENSP00000374006:A481S	ENSP00000215739:A500S	A	+	1	0	LZTR1	19678441	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	0.457000	0.21875	0.531000	0.28639	0.462000	0.41574	GCT	LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.697	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	53	0	G	NM_006767		21348441	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	72.31	18	47	SNP	0.017	T	T	21348441	G	T	21348441	3	4	22	1	0	0	0	0	1	0	0	0	9173	1203	42	3	1552	3	LZTR1	22	21348441	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		21348441	29956125	268	6114											
NEFH	4744	genome.wustl.edu	37	chr22	29886193	29886195	+	In_Frame_Del	DEL	AGA	AGA	-																															tgccacaccaaaaacagaggAgaagaaggacagcaagaaag																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:29886193_29886195delAGA	ENST00000310624.6	+	4	2597_2599	c.2564_2566delAGA	c.(2563-2568)gagaag>gag	p.K857del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	863	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAAACAGAGGAGAAGAAGGACAG	0.537																																																	0																																										SO:0001651	inframe_deletion	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"Intermediate filaments type IV"	7737	protein-coding gene	gene with protein product		162230	"neurofilament, heavy polypeptide 200kDa"				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2564_2566delAGA	22.37:g.29886196_29886198delAGA	ENSP00000311997:p.Lys857del		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	pfam_IF,pfam_DUF1388	p.K857in_frame_del	ENST00000310624.6	37	c.2564_2566	CCDS13858.1	22																																																																																			NEFH	-	NULL	ENSG00000100285		0.537	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2		0	14	0	AGA	NM_021076		29886195	1	tier1		no_errors	ENST00000310624	ensembl	human	known	74_37	in_frame_del	37.50	10	6	DEL	0.995:0.967:0.974	-	-	29886195	AGA	-	29886193	7	5	22	1	0	1	0	1	0	0	0	0	10353	304	11	0	2578	0	NEFH	22	29886193	In_Frame_Del	DEL	AGA	TCGA-IG-A4QS-01A-11D-A27G-09	8537752	29886193	21418373	269	6115											
SLC5A4	6527	genome.wustl.edu	37	chr22	32621756	32621756	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgtccattttgagaaacTtgtaccagtgggacccacac	11	11	9	10	0	0	1	0	1	0	1	1	3	1	2	3	1	2	2	3	1	2	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:32621756T>G	ENST00000266086.4	-	12	1346	c.1335A>C	c.(1333-1335)caA>caC	p.Q445H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	445					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTGAGAAACTTGTACCAGTG	0.363																																																	0													90	88	89					22																	32621756		2203	4300	6503	SO:0001583	missense	0			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1335A>C	22.37:g.32621756T>G	ENSP00000266086:p.Gln445His		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.Q445H	ENST00000266086.4	37	c.1335	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993212	0.54041	.	.	ENSG00000100191	ENST00000266086	D	0.88664	-2.41	5.05	-0.824	0.10812	.	0.250496	0.43260	D	0.000597	D	0.92564	0.7638	M	0.85542	2.76	0.23293	N	0.997964	P	0.48911	0.917	P	0.62014	0.897	D	0.86071	0.1538	10	0.87932	D	0	.	8.9023	0.35501	0.0:0.5552:0.0:0.4448	.	445	Q9NY91	SC5A4_HUMAN	H	445	ENSP00000266086:Q445H	ENSP00000266086:Q445H	Q	-	3	2	SLC5A4	30951756	0.605000	0.26941	0.000000	0.03702	0.006000	0.05464	1.253000	0.32886	0.028000	0.15324	-0.472000	0.04984	CAA	SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000100191		0.363	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	-	0	60	0	T	NM_014227		32621756	-1	tier1	-	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	42.62	35	26	SNP	0.113	G	G	32621756	T	G	32621756	3	3	22	1	0	0	0	0	1	0	0	0	14712	1606	56	4	660	4	SLC5A4	22	32621756	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	2735563	32621756	18682810	270	6116											
XRCC6	2547	genome.wustl.edu	37	chr22	42057349	42057349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctagtgcccaaggttgaaGcaatgaataaaagactgggc	14	9	11	7	0	1	3	0	2	1	1	1	3	1	3	1	2	2	2	1	2	7	4	rs61754572	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:42057349G>A	ENST00000359308.4	+	11	2192	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	XRCC6_ENST00000402580.3_Missense_Mutation_p.A472T|XRCC6_ENST00000405878.1_Missense_Mutation_p.A513T|XRCC6_ENST00000428575.2_Missense_Mutation_p.A380T|XRCC6_ENST00000405506.1_Missense_Mutation_p.A463T|XRCC6_ENST00000360079.3_Missense_Mutation_p.A513T			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	513					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAAGGTTGAAGCAATGAATAA	0.468								Non-homologous end-joining																																									0								G	THR/ALA	0,4406		0,0,2203	129	134	132		1537	3.4	0.9	22	dbSNP_129	132	2,8598	2.2+/-6.3	0,2,4298	yes	missense	XRCC6	NM_001469.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	513/610	42057349	2,13004	2203	4300	6503	SO:0001583	missense	0			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1537G>A	22.37:g.42057349G>A	ENSP00000352257:p.Ala513Thr		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70	p.A513T	ENST00000359308.4	37	c.1537	CCDS14021.1	22	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723028	0.30503	0.0	2.33E-4	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.51	3.41	0.39046	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.676161	0.16769	N	0.200280	T	0.40272	0.1110	M	0.70595	2.14	0.28258	N	0.924968	B;B;P;B	0.39044	0.155;0.044;0.656;0.093	B;B;B;B	0.40982	0.153;0.043;0.345;0.068	T	0.23368	-1.0190	10	0.16420	T	0.52	-0.8904	7.5586	0.27839	0.1379:0.2553:0.6068:0.0	rs61754572	463;513;472;513	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	T	513;472;380;513;513;513;463	ENSP00000353192:A513T;ENSP00000384941:A472T;ENSP00000403679:A380T;ENSP00000352257:A513T;ENSP00000384257:A513T;ENSP00000384082:A463T	ENSP00000352257:A513T	A	+	1	0	XRCC6	40387295	0.997000	0.39634	0.895000	0.35142	0.998000	0.95712	1.795000	0.38784	0.675000	0.31264	0.650000	0.86243	GCA	XRCC6	-	pirsf_Ku70,pfam_Ku_C,superfamily_SPOC_like_C_dom,tigrfam_Ku70	ENSG00000196419		0.468	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	-	0	66	0	G	NM_001469		42057349	1	tier1	rs61754572	no_errors	ENST00000359308	ensembl	human	known	74_37	missense	27.69	47	18	SNP	0.797	A	A	42057349	G	A	42057349	3	1	22	1	0	0	0	0	1	0	0	0	17506	971	34	3	1579	3	XRCC6	22	42057349	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	9435593	42057349	9247217	271	6117											
SHROOM2	357	genome.wustl.edu	37	chrX	9900467	9900467	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcgaggacaagactcGtggccagtgagctcagccct	9	7	12	13	2	1	2	1	1	0	1	3	4	1	3	2	2	3	2	2	2	1	0	rs137947571		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:9900467G>T	ENST00000380913.3	+	6	3234	c.3144G>T	c.(3142-3144)tcG>tcT	p.S1048S	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1048					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GACAAGACTCGTGGCCAGTGA	0.647																																																	0													20	17	18					X																	9900467		2190	4294	6484	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3144G>T	X.37:g.9900467G>T			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1048	ENST00000380913.3	37	c.3144	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.647	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1		0	23	0	G	NM_001649		9900467	1			no_errors	ENST00000380913	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.000	T	T	9900467	G	T	9900467	2	4	22	1	0	0	0	0	0	0	0	1	14339	1132	40	2		2	SHROOM2	23	9900467	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09		9900467	145370093	272	6118											
DMD	1756	genome.wustl.edu	37	chrX	32381009	32381009	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaccgcggtttgccatcaAgtttgctgcttggtcacgtg	5	13	12	11	3	3	0	3	0	0	0	3	0	3	0	2	2	3	4	2	2	1	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:32381009A>C	ENST00000357033.4	-	37	5427	c.5221T>G	c.(5221-5223)Ttg>Gtg	p.L1741V	DMD_ENST00000378677.2_Missense_Mutation_p.L1737V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1741	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L1737L(1)|p.L400L(1)|p.L1736L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGCCATCAAGTTTGCTGCT	0.463																																																	3	Substitution - coding silent(3)	large_intestine(3)											202	154	170					X																	32381009		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5221T>G	X.37:g.32381009A>C	ENSP00000354923:p.Leu1741Val		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L1741V	ENST00000357033.4	37	c.5221	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645717	0.67358	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.63255	-0.03;-0.03	5.24	2.88	0.33553	.	0.000000	0.29609	U	0.011674	T	0.74321	0.3701	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.996;0.997;0.997;0.997	D;D;D;D;D	0.79108	0.986;0.914;0.992;0.992;0.992	T	0.72450	-0.4290	10	0.49607	T	0.09	.	8.3658	0.32385	0.8373:0.0:0.1627:0.0	.	1733;1741;1737;400;397	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	V	1733;400;397;1737;1741;1741;1618	ENSP00000367948:L1737V;ENSP00000354923:L1741V	ENSP00000354923:L1741V	L	-	1	2	DMD	32290930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.979000	0.40608	0.650000	0.30769	0.437000	0.28790	TTG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	23	0	A	NM_004006		32381009	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	C	C	32381009	A	C	32381009	3	2	22	1	0	0	0	0	1	0	0	0	4594	69	3	4	6156	4	DMD	23	32381009	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	22480542	32381009	122889551	273	6119											
LAS1L	81887	genome.wustl.edu	37	chrX	64743982	64743982	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacggtccatctgaggatGtaggtaggccggatcccgct	8	9	13	11	3	2	1	1	1	1	0	4	3	4	3	3	5	1	3	3	5	3	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:64743982G>T	ENST00000374811.3	-	10	1294	c.1254C>A	c.(1252-1254)taC>taA	p.Y418*	LAS1L_ENST00000374804.5_Nonsense_Mutation_p.Y359*|LAS1L_ENST00000374807.5_Nonsense_Mutation_p.Y401*|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	418					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATCTGAGGATGTAGGTAGGCC	0.607																																																	0													85	59	68					X																	64743982		2203	4300	6503	SO:0001587	stop_gained	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1254C>A	X.37:g.64743982G>T	ENSP00000363944:p.Tyr418*		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Nonsense_Mutation	SNP	pfam_Las1	p.Y418*	ENST00000374811.3	37	c.1254	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.040269	0.97226	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.76	4.76	0.60689	.	0.456190	0.23731	N	0.045127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3933	0.55370	0.0:0.0:1.0:0.0	.	.	.	.	X	401;418;359	.	ENSP00000363937:Y359X	Y	-	3	2	LAS1L	64660707	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.393000	0.52544	1.972000	0.57404	0.287000	0.19450	TAC	LAS1L	-	NULL	ENSG00000001497		0.607	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1		0	21	0	G	NM_031206		64743982	-1			no_errors	ENST00000374811	ensembl	human	known	74_37	nonsense	9.09	30	3	SNP	1.000	T	T	64743982	G	T	64743982	4	4	22	1	0	0	0	0	0	1	0	0	8664	1372	48	3	970	3	LAS1L	23	64743982	Nonsense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	32362973	64743982	90526578	274	6120											
HEPH	9843	genome.wustl.edu	37	chrX	65486415	65486415	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgttgttctggctctTggtggagtggtttggtacca	3	16	14	8	1	2	0	0	0	2	0	3	1	2	1	1	5	2	6	1	5	1	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:65486415T>G	ENST00000343002.2	+	20	4042	c.3378T>G	c.(3376-3378)ctT>ctG	p.L1126L	HEPH_ENST00000374727.3_Silent_p.L1129L|HEPH_ENST00000441993.2_Silent_p.L1128L|HEPH_ENST00000519389.1_Silent_p.L1180L|HEPH_ENST00000336279.5_Silent_p.L859L|HEPH_ENST00000419594.1_Silent_p.L937L			Q9BQS7	HEPH_HUMAN	hephaestin	1126					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCTGGCTCTTGGTGGAGTGG	0.483																																																	0													297	194	229					X																	65486415		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3378T>G	X.37:g.65486415T>G			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.L1180	ENST00000343002.2	37	c.3540		X																																																																																			HEPH	-	NULL	ENSG00000089472		0.483	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	0	37	0	T	NM_138737		65486415	1	tier1	-	no_errors	ENST00000519389	ensembl	human	known	74_37	silent	6.76	69	5	SNP	0.249	G	G	65486415	T	G	65486415	2	3	22	1	0	0	0	0	0	0	0	1	7081	1799	63	4		4	HEPH	23	65486415	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	742433	65486415	89784145	275	6121											
ZCCHC5	203430	genome.wustl.edu	37	chrX	77913151	77913151	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgtaactatacagctgaAccaggaactcaggaagcttc	14	9	8	10	0	2	1	2	1	0	0	3	3	2	3	1	2	6	3	1	2	6	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:77913151A>C	ENST00000321110.1	-	2	1062	c.767T>G	c.(766-768)gTt>gGt	p.V256G		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	256							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATACAGCTGAACCAGGAACTC	0.507																																																	0													28	26	27					X																	77913151		2203	4300	6503	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.767T>G	X.37:g.77913151A>C	ENSP00000316794:p.Val256Gly		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V256G	ENST00000321110.1	37	c.767	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	A	5.943	0.358062	0.11239	.	.	ENSG00000179300	ENST00000321110	T	0.19394	2.15	3.29	2.08	0.27032	.	0.284099	0.18219	U	0.147960	T	0.16300	0.0392	L	0.54323	1.7	0.09310	N	0.999992	B	0.30021	0.265	B	0.29716	0.106	T	0.19976	-1.0289	10	0.21014	T	0.42	.	4.9549	0.14035	0.7277:0.0:0.0:0.2723	.	256	Q8N8U3	ZCHC5_HUMAN	G	256	ENSP00000316794:V256G	ENSP00000316794:V256G	V	-	2	0	ZCCHC5	77799807	0.003000	0.15002	0.011000	0.14972	0.016000	0.09150	0.494000	0.22467	0.452000	0.26830	0.417000	0.27973	GTT	ZCCHC5	-	NULL	ENSG00000179300		0.507	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0	17	0	A	NM_152694		77913151	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	missense	50.00	29	29	SNP	0.011	C	C	77913151	A	C	77913151	3	2	22	1	0	0	0	0	1	0	0	0	17639	43	2	4	664	4	ZCCHC5	23	77913151	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	12426736	77913151	77357409	276	6122											
ZMAT1	84460	genome.wustl.edu	37	chrX	101138901	101138901	+	Missense_Mutation	SNP	T	T	G																															attttcttgctgattaaggcTcaagggtactggtttttctg																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:101138901T>G	ENST00000372782.3	-	7	1545	c.1498A>C	c.(1498-1500)Agc>Cgc	p.S500R	ZMAT1_ENST00000458570.1_Missense_Mutation_p.S329R|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S500R|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	500						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGATTAAGGCTCAAGGGTACT	0.418																																																	0													110	93	99					X																	101138901		2202	4300	6502	SO:0001583	missense	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1498A>C	X.37:g.101138901T>G	ENSP00000361868:p.Ser500Arg		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.S500R	ENST00000372782.3	37	c.1498	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116351	0.56505	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.24538	2.3;2.3;1.85	4.37	4.37	0.52481	.	0.307999	0.32918	N	0.005487	T	0.37265	0.0997	M	0.61703	1.905	0.27526	N	0.951239	D	0.59357	0.985	P	0.58077	0.832	T	0.29731	-1.0002	10	0.72032	D	0.01	-4.5924	5.6273	0.17490	0.0:0.1188:0.0:0.8812	.	500	Q5H9K5	ZMAT1_HUMAN	R	500;500;329	ENSP00000361868:S500R;ENSP00000437529:S500R;ENSP00000413044:S329R	ENSP00000361868:S500R	S	-	1	0	ZMAT1	101025557	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	1.598000	0.36740	1.913000	0.55393	0.486000	0.48141	AGC	ZMAT1	-	NULL	ENSG00000166432		0.418	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	-	0	28	0	T			101138901	-1	tier1	-	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	45.61	31	26	SNP	0.978	G	G	101138901	T	G	101138901	3	3	22	1	0	0	0	0	1	0	0	0	17739	1551	54	4	422	4	ZMAT1	23	101138901	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	23225750	101138901	54131659	277	6123	23	2									
ZMAT1	84460	genome.wustl.edu	37	chrX	101138908	101138908	+	Silent	SNP	T	T	A																															tgctgattaaggctcaagggTactggtttttctgggaaaca																										TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:101138908T>A	ENST00000372782.3	-	7	1538	c.1491A>T	c.(1489-1491)gtA>gtT	p.V497V	ZMAT1_ENST00000458570.1_Silent_p.V326V|ZMAT1_ENST00000540921.1_Silent_p.V497V|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	497						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGCTCAAGGGTACTGGTTTTT	0.413																																																	0													109	93	98					X																	101138908		2202	4300	6502	SO:0001819	synonymous_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1491A>T	X.37:g.101138908T>A			Q8NDS3|Q96JN6	Silent	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.V497	ENST00000372782.3	37	c.1491	CCDS35348.1	X																																																																																			ZMAT1	-	NULL	ENSG00000166432		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	-	0	27	0	T			101138908	-1	tier1	-	no_errors	ENST00000372782	ensembl	human	known	74_37	silent	46.43	30	26	SNP	0.000	A	A	101138908	T	A	101138908	2	1	22	1	0	0	0	0	0	0	0	1	17739	1625	57	5		5	ZMAT1	23	101138908	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	7	101138908	54131652	278	6124	23	2									
GPRASP2	114928	genome.wustl.edu	37	chrX	101971323	101971323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcatggggttggcttccGatccacaagcccctttggaa	7	13	10	11	1	1	0	1	0	0	0	3	2	3	1	4	4	1	2	4	4	2	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:101971323G>A	ENST00000535209.1	+	4	2357	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	GPRASP2_ENST00000332262.5_Missense_Mutation_p.R509Q|GPRASP2_ENST00000543253.1_Missense_Mutation_p.R509Q			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	509						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GTTGGCTTCCGATCCACAAGC	0.512																																																	0													70	66	67					X																	101971323		2203	4300	6503	SO:0001583	missense	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"Armadillo repeat containing"	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1526G>A	X.37:g.101971323G>A	ENSP00000437394:p.Arg509Gln		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R509Q	ENST00000535209.1	37	c.1526	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	1.618	-0.522156	0.04171	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08008	3.14;3.14;3.14	4.44	2.67	0.31697	.	0.150727	0.31461	N	0.007601	T	0.03608	0.0103	N	0.08118	0	0.19775	N	0.99996	B	0.10296	0.003	B	0.01281	0.0	T	0.41360	-0.9513	10	0.27785	T	0.31	.	5.3938	0.16259	0.0:0.6824:0.2044:0.1132	.	509	Q96D09	GASP2_HUMAN	Q	509	ENSP00000437872:R509Q;ENSP00000437394:R509Q;ENSP00000339057:R509Q	ENSP00000339057:R509Q	R	+	2	0	GPRASP2	101857979	0.668000	0.27493	0.729000	0.30791	0.001000	0.01503	1.194000	0.32174	0.617000	0.30160	-0.976000	0.02587	CGA	GPRASP2	-	NULL	ENSG00000158301		0.512	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	-	0	25	0	G	NM_138437		101971323	1	tier1	-	no_errors	ENST00000332262	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.674	A	A	101971323	G	A	101971323	3	1	22	1	0	0	0	0	1	0	0	0	6750	1058	37	1	1528	1	GPRASP2	23	101971323	Missense_Mutation	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	832415	101971323	53299237	279	6125											
NRK	203447	genome.wustl.edu	37	chrX	105156740	105156740	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacatttcaaatcctaaaaAaattgaggtaaatttttcaa	19	14	3	5	0	2	1	2	1	0	0	3	1	3	1	1	1	1	1	1	1	9	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:105156740A>C	ENST00000243300.9	+	14	2645	c.2342A>C	c.(2341-2343)aAa>aCa	p.K781T	NRK_ENST00000428173.2_Missense_Mutation_p.K782T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	781					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATCCTAAAAAAATTGAGGTA	0.343										HNSCC(51;0.14)																																							0													26	23	24					X																	105156740		1797	4034	5831	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2342A>C	X.37:g.105156740A>C	ENSP00000434830:p.Lys781Thr		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.K782T	ENST00000243300.9	37	c.2345		X	.	.	.	.	.	.	.	.	.	.	A	4.420	0.077573	0.08485	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77358	-1.08;-1.09	3.59	-4.9	0.03094	.	1.538920	0.04165	N	0.323743	T	0.53899	0.1825	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.003	B;B	0.16289	0.015;0.004	T	0.37314	-0.9711	10	0.52906	T	0.07	.	2.4963	0.04622	0.5457:0.137:0.1776:0.1396	.	449;781	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	781;782	ENSP00000434830:K781T;ENSP00000438378:K782T	ENSP00000434830:K781T	K	+	2	0	NRK	105043396	0.016000	0.18221	0.001000	0.08648	0.000000	0.00434	-0.663000	0.05299	-1.554000	0.01700	-2.047000	0.00414	AAA	NRK	-	NULL	ENSG00000123572		0.343	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	-	0	31	0	A	NM_198465		105156740	1	tier1	-	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.001	C	C	105156740	A	C	105156740	3	2	22	1	0	0	0	0	1	0	0	0	10694	14	1	4	2396	4	NRK	23	105156740	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	3185417	105156740	50113820	280	6126											
AGTR2	186	genome.wustl.edu	37	chrX	115303887	115303887	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggacctgtgatgtgcaaAgtttttggttcttttcttac	6	20	9	6	0	2	1	0	1	2	0	2	2	2	2	1	2	2	3	1	2	2	7			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:115303887A>C	ENST00000371906.4	+	3	544	c.354A>C	c.(352-354)aaA>aaC	p.K118N		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	118					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TGATGTGCAAAGTTTTTGGTT	0.408																																																	0													191	184	186					X																	115303887		2203	4300	6503	SO:0001583	missense	0			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"GPCR / Class A : Angiotensin receptors"	338	protein-coding gene	gene with protein product		300034	"angiotensin receptor 2"			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.354A>C	X.37:g.115303887A>C	ENSP00000360973:p.Lys118Asn		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.K118N	ENST00000371906.4	37	c.354	CCDS14569.1	X	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556372	0.45487	.	.	ENSG00000180772	ENST00000371906	T	0.73258	-0.73	4.48	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.89095	3.005	0.44395	D	0.997306	D	0.89917	1.0	D	0.97110	1.0	T	0.82764	-0.0296	10	0.87932	D	0	-7.7232	7.2835	0.26324	0.8926:0.0:0.1074:0.0	.	118	P50052	AGTR2_HUMAN	N	118	ENSP00000360973:K118N	ENSP00000360973:K118N	K	+	3	2	AGTR2	115217915	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	1.497000	0.35649	0.591000	0.29711	0.412000	0.27726	AAA	AGTR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180772		0.408	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	HGNC	protein_coding	OTTHUMT00000057984.1	-	0	22	0	A	NM_000686		115303887	1	tier1	-	no_errors	ENST00000371906	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.988	C	C	115303887	A	C	115303887	3	2	22	1	0	0	0	0	1	0	0	0	402	69	3	4	356	4	AGTR2	23	115303887	Missense_Mutation	SNP	A	TCGA-IG-A4QS-01A-11D-A27G-09	10147147	115303887	39966673	281	6127											
KLHL13	90293	genome.wustl.edu	37	chrX	117033237	117033237	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgacatagagcctttcTcccactgtacacatgcaatg	12	10	6	13	0	1	2	0	1	1	1	2	2	1	2	3	0	3	2	3	0	4	3			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:117033237T>C	ENST00000262820.3	-	7	2511	c.1602A>G	c.(1600-1602)ggA>ggG	p.G534G	KLHL13_ENST00000371882.1_Silent_p.G483G|KLHL13_ENST00000540167.1_Silent_p.G518G|KLHL13_ENST00000371878.1_Silent_p.G483G|KLHL13_ENST00000469946.1_Silent_p.G483G|KLHL13_ENST00000541812.1_Silent_p.G518G|KLHL13_ENST00000371876.1_Silent_p.G483G|KLHL13_ENST00000545703.1_Silent_p.G492G|KLHL13_ENST00000539496.1_Silent_p.G537G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	534					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAGCCTTTCTCCCACTGTAC	0.458																																																	0													250	237	241					X																	117033237		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1602A>G	X.37:g.117033237T>C			B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G537	ENST00000262820.3	37	c.1611	CCDS14571.1	X																																																																																			KLHL13	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.458	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		-	0	27	0	T	NM_033495		117033237	-1	tier1	-	no_errors	ENST00000539496	ensembl	human	known	74_37	silent	45.45	30	25	SNP	1.000	C	C	117033237	T	C	117033237	2	2	22	1	0	0	0	0	0	0	0	1	8396	1538	54	4		4	KLHL13	23	117033237	Silent	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	1729350	117033237	38237323	282	6128											
KIAA1210	57481	genome.wustl.edu	37	chrX	118221265	118221265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcagaaacaggggagaCtttttgctcatactcaggtt	11	11	11	8	0	2	2	2	0	0	2	2	3	2	2	0	4	3	3	0	4	2	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:118221265C>G	ENST00000402510.2	-	11	3927	c.3928G>C	c.(3928-3930)Gtc>Ctc	p.V1310L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1310										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAGGGGAGACTTTTTGCTCA	0.478																																																	0													121	114	116					X																	118221265		1847	4085	5932	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3928G>C	X.37:g.118221265C>G	ENSP00000384670:p.Val1310Leu		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.V1310L	ENST00000402510.2	37	c.3928	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.611888|1.611888	0.28712|0.28712	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.15834	.|2.39	3.98|3.98	-2.66|-2.66	0.06077|0.06077	.|.	.|.	.|.	.|.	.|.	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	.|P	.|0.41784	.|0.762	.|B	.|0.39379	.|0.298	T|T	0.32428|0.32428	-0.9907|-0.9907	5|9	.|0.14656	.|T	.|0.56	.|.	9.8262|9.8262	0.40914|0.40914	0.0:0.2575:0.0:0.7425|0.0:0.2575:0.0:0.7425	.|.	.|1310	.|Q9ULL0	.|K1210_HUMAN	T|L	716|1310	.|ENSP00000384670:V1310L	.|ENSP00000384670:V1310L	S|V	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118105293|118105293	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.058000|0.058000	0.15608|0.15608	-1.555000|-1.555000	0.02170|0.02170	-0.823000|-0.823000	0.04301|0.04301	0.513000|0.513000	0.50165|0.50165	AGT|GTC	KIAA1210	-	NULL	ENSG00000250423		0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	28	0	C	NM_020721		118221265	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	34.48	38	20	SNP	0.000	G	G	118221265	C	G	118221265	3	3	22	1	0	0	0	0	1	0	0	0	8241	565	20	5	1217	5	KIAA1210	23	118221265	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	1188028	118221265	37049295	283	6129											
ODZ1	10178	genome.wustl.edu	37	chrX	123519781	123519781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggggtgtagatgttcCggtagtagcccactgaaagc	8	9	15	9	2	0	2	0	1	0	1	1	2	1	2	3	4	2	4	3	4	4	4			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:123519781C>T	ENST00000371130.3	-	28	5864	c.5801G>A	c.(5800-5802)cGg>cAg	p.R1934Q	TENM1_ENST00000422452.2_Missense_Mutation_p.R1941Q|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1934					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTAGATGTTCCGGTAGTAGCC	0.507																																																	0													149	126	134					X																	123519781		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5801G>A	X.37:g.123519781C>T	ENSP00000360171:p.Arg1934Gln		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.R1941Q	ENST00000371130.3	37	c.5822	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.349952	0.95830	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.2	5.67	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.93210	0.7837	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.978;0.992;0.999	D	0.93658	0.6979	10	0.72032	D	0.01	.	13.8909	0.63738	0.0:0.925:0.0:0.075	.	1940;1941;1934	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	1934;1941	ENSP00000360171:R1934Q;ENSP00000403954:R1941Q	ENSP00000360171:R1934Q	R	-	2	0	ODZ1	123347462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.175000	0.42826	0.591000	0.81541	CGG	TENM1	-	NULL	ENSG00000009694		0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	34	0	C	NM_014253		123519781	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	T	T	123519781	C	T	123519781	3	4	22	1	0	0	0	0	1	0	0	0	10873	652	23	1	2392	1	ODZ1	23	123519781	Missense_Mutation	SNP	C	TCGA-IG-A4QS-01A-11D-A27G-09	5298516	123519781	31750779	284	6130											
SPANXN1	494118	genome.wustl.edu	37	chrX	144337250	144337250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaaaaagatgaaaacGtcagaatattcaacagtatt	19	11	7	4	1	2	4	2	2	0	2	2	4	2	4	0	0	2	2	0	0	8	5			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:144337250G>A	ENST00000370493.3	+	2	894	c.135G>A	c.(133-135)acG>acA	p.T45T		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	45										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAAAACGTCAGAATATT	0.408																																																	0													155	138	144					X																	144337250		2203	4297	6500	SO:0001819	synonymous_variant	0				CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.135G>A	X.37:g.144337250G>A				Silent	SNP	pfam_SPANX_prot	p.T45	ENST00000370493.3	37	c.135	CCDS35421.1	X																																																																																			SPANXN1	-	pfam_SPANX_prot	ENSG00000203923		0.408	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN1	HGNC	protein_coding	OTTHUMT00000058631.2	-	0	56	0	G	NM_001009614		144337250	1	tier1	-	no_errors	ENST00000370493	ensembl	human	known	74_37	silent	65.09	37	69	SNP	0.000	A	A	144337250	G	A	144337250	2	1	22	1	0	0	0	0	0	0	0	1	15037	1132	40	1		1	SPANXN1	23	144337250	Silent	SNP	G	TCGA-IG-A4QS-01A-11D-A27G-09	20817469	144337250	10933310	285	6131											
MAGEA12	4111	genome.wustl.edu	37	chrX	151900433	151900433	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggctccctggctcgatacTtgaggagcagaaaatgaacc	12	8	11	10	1	0	3	0	2	0	1	2	5	1	4	2	3	3	3	2	3	4	2			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:151900433T>G	ENST00000357916.4	-	2	523	c.368A>C	c.(367-369)aAg>aCg	p.K123T	CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.K123T|MAGEA12_ENST00000393900.3_Missense_Mutation_p.K123T|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	123	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTCGATACTTGAGGAGCAG	0.502																																																	0													149	131	137					X																	151900433		2203	4300	6503	SO:0001583	missense	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.368A>C	X.37:g.151900433T>G	ENSP00000350592:p.Lys123Thr		Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K123T	ENST00000357916.4	37	c.368	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565644	0.27915	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.06294	3.32;3.32;3.32	0.8	0.8	0.18672	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	H	0.96889	3.9	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12218	-1.0556	9	0.87932	D	0	.	.	.	.	.	123	P43365	MAGAC_HUMAN	T	123	ENSP00000350592:K123T;ENSP00000377447:K123T;ENSP00000377478:K123T	ENSP00000350592:K123T	K	-	2	0	MAGEA12	151651089	0.129000	0.22400	0.015000	0.15790	0.049000	0.14656	1.365000	0.34182	0.552000	0.29026	0.143000	0.16000	AAG	MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.502	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	-	0	61	0	T	NM_005367		151900433	-1	tier1	-	no_errors	ENST00000357916	ensembl	human	known	74_37	missense	29.86	101	43	SNP	0.015	G	G	151900433	T	G	151900433	3	3	22	1	0	0	0	0	1	0	0	0	9202	1609	56	4	580	4	MAGEA12	23	151900433	Missense_Mutation	SNP	T	TCGA-IG-A4QS-01A-11D-A27G-09	7563183	151900433	3370127	286	6132											
DNAJC11	55735	genome.wustl.edu	37	chr1	6700029	6700029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaaagtagaccactagagGccccacggtggcatagaaca	14	4	12	11	1	0	3	0	0	0	3	0	3	0	3	3	4	1	3	3	4	5	3			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr1:6700029G>T	ENST00000377577.5	-	11	1309	c.1186C>A	c.(1186-1188)Cct>Act	p.P396T	DNAJC11_ENST00000542246.1_Missense_Mutation_p.P358T|DNAJC11_ENST00000377573.5_Missense_Mutation_p.P306T|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000294401.7_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	396						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ACCACTAGAGGCCCCACGGTG	0.527																																																	0													91	83	86					1																	6700029		2203	4300	6503	SO:0001583	missense	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1186C>A	1.37:g.6700029G>T	ENSP00000366800:p.Pro396Thr		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.P396T	ENST00000377577.5	37	c.1186	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008706	0.93346	.	.	ENSG00000007923	ENST00000377577;ENST00000542246;ENST00000377573	D;D;D	0.90620	-1.62;-1.87;-2.7	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.95875	0.8657	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.95763	0.8802	10	0.87932	D	0	-18.6205	19.4017	0.94632	0.0:0.0:1.0:0.0	.	306;396	B4DGD5;Q9NVH1	.;DJC11_HUMAN	T	396;358;306	ENSP00000366800:P396T;ENSP00000444020:P358T;ENSP00000366796:P306T	ENSP00000366796:P306T	P	-	1	0	DNAJC11	6622616	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.158000	0.94723	2.835000	0.97688	0.591000	0.81541	CCT	DNAJC11	-	NULL	ENSG00000007923		0.527	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	-	0	37	0	G	NM_018198		6700029	-1	tier1	-	no_errors	ENST00000377577	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	6700029	G	T	6700029	3	4	23	1	0	0	0	0	1	0	0	0	4644	1203	42	3	517	3	DNAJC11	1	6700029	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09		6700029	242550592	1	6133											
ODF2L	57489	genome.wustl.edu	37	chr1	86842069	86842069	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttattcattcttgattgCaggttccacttggctatctt	6	20	6	9	0	4	1	1	1	3	0	5	1	5	1	1	2	1	3	1	2	2	10			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr1:86842069C>T	ENST00000359242.3	-	8	938	c.657G>A	c.(655-657)ctG>ctA	p.L219L	ODF2L_ENST00000370567.1_Silent_p.L219L|ODF2L_ENST00000524695.1_5'Flank|ODF2L_ENST00000317336.7_Silent_p.L219L|ODF2L_ENST00000394731.1_Silent_p.L88L|ODF2L_ENST00000294678.2_Silent_p.L219L|ODF2L_ENST00000370566.3_Silent_p.L219L	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	219						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCTTGATTGCAGGTTCCACT	0.303																																																	0													135	125	129					1																	86842069		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.657G>A	1.37:g.86842069C>T			A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Silent	SNP	NULL	p.L219	ENST00000359242.3	37	c.657	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	C	1.143	-0.648818	0.03506	.	.	ENSG00000122417	ENST00000459999	.	.	.	5.55	1.41	0.22369	.	.	.	.	.	T	0.43897	0.1268	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35351	-0.9792	4	.	.	.	-4.0237	9.3131	0.37917	0.0:0.6568:0.0:0.3432	.	.	.	.	Y	68	.	.	C	-	2	0	ODF2L	86614657	0.981000	0.34729	0.993000	0.49108	0.137000	0.21094	-0.012000	0.12699	0.345000	0.23873	0.655000	0.94253	TGC	ODF2L	-	NULL	ENSG00000122417		0.303	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	-	0	92	0	C			86842069	-1	tier1	-	no_errors	ENST00000317336	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.970	T	T	86842069	C	T	86842069	2	4	23	1	0	0	0	0	0	0	0	1	10867	697	25	3		3	ODF2L	1	86842069	Silent	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09	80142040	86842069	162408552	2	6134											
C1orf111	284680	genome.wustl.edu	37	chr1	162343862	162343862	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacataagtaggcttcaccGccaatttgcctaaggtgttc	11	11	9	10	1	1	1	1	0	0	1	2	1	1	1	3	2	1	3	3	2	4	6	rs201331788		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr1:162343862G>T	ENST00000367935.5	-	3	841	c.762C>A	c.(760-762)ggC>ggA	p.G254G	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	254								p.G254G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			AGGCTTCACCGCCAATTTGCC	0.567																																																	1	Substitution - coding silent(1)	lung(1)											176	186	183					1																	162343862		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.762C>A	1.37:g.162343862G>T			Q6X961|Q8NEC3	Silent	SNP	NULL	p.G254	ENST00000367935.5	37	c.762	CCDS1238.1	1																																																																																			C1orf111	-	NULL	ENSG00000171722		0.567	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf111	HGNC	protein_coding	OTTHUMT00000076791.2		0	37	0	G	NM_182581		162343862	-1			no_errors	ENST00000367935	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.000	T	T	162343862	G	T	162343862	2	4	23	1	0	0	0	0	0	0	0	1	1991	1074	38	2		2	C1orf111	1	162343862	Silent	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	75501793	162343862	86906759	3	6135											
MAP4K3	8491	genome.wustl.edu	37	chr2	39552664	39552665	+	In_Frame_Ins	INS	-	-	ATC																															aaagcaattcctacctcaggINSatcatcatcatcgaaatcat																										TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:39552664_39552665insATC	ENST00000263881.3	-	12	1236_1237	c.912_913insGAT	c.(910-915)gatcct>gatGATcct	p.304_305insD	MAP4K3_ENST00000437545.1_In_Frame_Ins_p.241_242insD|MAP4K3_ENST00000341681.5_In_Frame_Ins_p.304_305insD|MAP4K3_ENST00000536018.1_De_novo_Start_OutOfFrame|RP11-449G16.1_ENST00000609671.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	304					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCTACCTCAGGATCATCATCAT	0.351																																																	0																																										SO:0001652	inframe_insertion	0			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.910_912dupGAT	2.37:g.39552671_39552673dupATC	ENSP00000263881:p.Asp304_Asp304dup		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	In_Frame_Ins	INS	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.304in_frame_insD	ENST00000263881.3	37	c.913_912	CCDS1803.1	2																																																																																			MAP4K3	-	superfamily_Kinase-like_dom	ENSG00000011566		0.351	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2		0	33	0	-	NM_003618		39552665	-1	tier1		no_errors	ENST00000263881	ensembl	human	known	74_37	in_frame_ins	5.71	33	2	INS	1.000:1.000	ATC	ATC	39552665	-	ATC	39552664	7	5	23	1	0	1	1	0	0	0	0	0	9299	1174	41	0	1863	0	MAP4K3	2	39552664	In_Frame_Ins	INS	-	TCGA-IG-A4QT-01A-21D-A27G-09		39552664	203646709	4	6136											
SUCLG1	8802	genome.wustl.edu	37	chr2	84668530	84668530	+	Frame_Shift_Del	DEL	A	A	-																															tcattaatggcagcagcagcAaaaggcggaggaacataaat																										TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:84668530delA	ENST00000393868.2	-	4	582	c.372delT	c.(370-372)tttfs	p.F124fs		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	124					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CAGCAGCAGCAAAAGGCGGAG	0.438																																					Ovarian(48;203 1101 37206 40305 50790)												0													68	68	68					2																	84668530		2203	4300	6503	SO:0001589	frameshift_variant	0			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"succinate-CoA ligase, GDP-forming, alpha subunit"			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.372delT	2.37:g.84668530delA	ENSP00000377446:p.Phe124fs		Q9BWB0|Q9UNP6	Frame_Shift_Del	DEL	pfam_CoA-bd,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_CoA_lig_alpha,prints_CoA_lig_alpha,tigrfam_CoA_lig_alpha	p.F124fs	ENST00000393868.2	37	c.372	CCDS1967.2	2																																																																																			SUCLG1	-	pfam_CoA-bd,smart_CoA-bd,pirsf_CoA_lig_alpha,tigrfam_CoA_lig_alpha	ENSG00000163541		0.438	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	HGNC	protein_coding	OTTHUMT00000252298.2		0	24	0	A	NM_003849		84668530	-1	tier1		no_errors	ENST00000393868	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	1.000	-	-	84668530	A	-	84668530	7	5	23	1	0	1	0	1	0	0	0	0	15411	127	5	0	692	0	SUCLG1	2	84668530	Frame_Shift_Del	DEL	A	TCGA-IG-A4QT-01A-21D-A27G-09	45115866	84668530	158530843	5	6137											
POLR1A	25885	genome.wustl.edu	37	chr2	86271375	86271375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgccgtcactgtcacGgaccgtgagatcatactgca	10	8	9	14	3	3	1	3	1	0	1	3	3	3	2	2	1	3	1	2	1	1	1	rs552830269		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:86271375G>A	ENST00000263857.6	-	22	3400	c.3022C>T	c.(3022-3024)Cgt>Tgt	p.R1008C	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1008C			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1008					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCACTGTCACGGACCGTGAGA	0.607													G|||	1	0.000199681	0	0	5008	,	,		17694	0		0	False		,,,				2504	0.001																0													100	111	107					2																	86271375		2146	4248	6394	SO:0001583	missense	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3022C>T	2.37:g.86271375G>A	ENSP00000263857:p.Arg1008Cys		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.R1008C	ENST00000263857.6	37	c.3022	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981124	0.34942	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.74106	-0.81;-0.81	5.69	5.69	0.88448	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.91848	0.7420	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94171	0.7423	10	0.87932	D	0	-18.1698	19.8154	0.96566	0.0:0.0:1.0:0.0	.	374;1008	B7Z8X7;O95602	.;RPA1_HUMAN	C	1008	ENSP00000263857:R1008C;ENSP00000386300:R1008C	ENSP00000263857:R1008C	R	-	1	0	POLR1A	86124886	1.000000	0.71417	0.985000	0.45067	0.062000	0.15995	3.988000	0.56951	2.699000	0.92147	0.655000	0.94253	CGT	POLR1A	-	pfam_RNA_pol_Rpb1_5	ENSG00000068654		0.607	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2		0	35	0	G	NM_015425		86271375	-1			no_errors	ENST00000263857	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	86271375	G	A	86271375	3	1	23	1	0	0	0	0	1	0	0	0	12248	1116	39	1	2192	1	POLR1A	2	86271375	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	1602845	86271375	156927998	6	6138											
MARCH7	64844	genome.wustl.edu	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-																															gcttctagcatgtcatctacTtttttttcacgaagatctag																										TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																																	0													63	64	64					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S296fs	ENST00000259050.4	37	c.879	CCDS2210.1	2																																																																																			MARCH7	-	NULL	ENSG00000136536		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3		0	27	0	T	NM_022826		160604680	1	tier1		no_errors	ENST00000259050	ensembl	human	known	74_37	frame_shift_del	12.50	21	3	DEL	0.910	-	-	160604680	T	-	160604680	7	5	23	1	0	1	0	1	0	0	0	0	9344	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-IG-A4QT-01A-21D-A27G-09	74333305	160604680	82594693	7	6139											
TTN	7273	genome.wustl.edu	37	chr2	179398098	179398098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagagcataataatccaagCcttcatggataatttcaatg	15	11	7	8	0	2	1	2	0	0	1	3	2	3	2	2	1	2	2	2	1	5	5			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr2:179398098C>A	ENST00000591111.1	-	308	98545	c.98321G>T	c.(98320-98322)gGc>gTc	p.G32774V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G25475V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G25542V|TTN_ENST00000460472.2_Missense_Mutation_p.G25350V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G34415V|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G31847V|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32774	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATCCAAGCCTTCATGGAT	0.488																																																	0													75	74	74					2																	179398098		1982	4159	6141	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98321G>T	2.37:g.179398098C>A	ENSP00000465570:p.Gly32774Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G31847V	ENST00000591111.1	37	c.95540		2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869533	0.51588	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89626	0.6769	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.71674	0.994;0.994;0.994;0.998	D;D;D;D	0.69479	0.944;0.944;0.944;0.964	D	0.91573	0.5273	9	0.87932	D	0	.	19.3646	0.94456	0.0:1.0:0.0:0.0	.	25350;25475;25542;32774	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	31847;25350;25542;25475;25347	ENSP00000343764:G31847V;ENSP00000434586:G25350V;ENSP00000340554:G25542V;ENSP00000352154:G25475V	ENSP00000340554:G25542V	G	-	2	0	TTN	179106344	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.729000	0.54999	2.688000	0.91661	0.555000	0.69702	GGC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	65	0	C	NM_133378		179398098	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	179398098	C	A	179398098	3	1	23	1	0	0	0	0	1	0	0	0	16784	739	26	3	4755	3	TTN	2	179398098	Missense_Mutation	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09	18793418	179398098	63801275	8	6140											
NMD3	51068	genome.wustl.edu	37	chr3	160951234	160951234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggactgagcctcattctaaGagacttaaagttaaactgac	14	11	8	8	0	2	3	1	2	1	1	2	5	2	4	1	1	2	1	1	1	5	4			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr3:160951234G>A	ENST00000460469.1	+	4	779	c.324G>A	c.(322-324)aaG>aaA	p.K108K	NMD3_ENST00000351193.2_Silent_p.K108K|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Silent_p.K108K			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	108					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)	p.K108K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CTCATTCTAAGAGACTTAAAG	0.373																																																	1	Substitution - coding silent(1)	cervix(1)											125	118	120					3																	160951234		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"NMD3 homolog (S. cerevisiae)"			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.324G>A	3.37:g.160951234G>A			D3DNM7|Q9Y2Z6	Silent	SNP	pfam_NMD3	p.K108	ENST00000460469.1	37	c.324	CCDS3194.1	3																																																																																			NMD3	-	pfam_NMD3	ENSG00000169251		0.373	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1		0	59	0	G	NM_015938		160951234	1			no_errors	ENST00000351193	ensembl	human	known	74_37	silent	7.41	25	2	SNP	1.000	A	A	160951234	G	A	160951234	2	1	23	1	0	0	0	0	0	0	0	1	10527	933	33	3		3	NMD3	3	160951234	Silent	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09		160951234	37071196	9	6141											
HSD17B4	3295	genome.wustl.edu	37	chr5	118814681	118814681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacaccattgctcctaatgCgggatcacggatgactcaga	12	9	9	11	2	2	2	2	1	0	1	3	4	3	4	2	2	3	1	2	2	2	3	rs550705310		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr5:118814681C>T	ENST00000256216.6	+	8	720	c.587C>T	c.(586-588)gCg>gTg	p.A196V	HSD17B4_ENST00000515320.1_Missense_Mutation_p.A178V|HSD17B4_ENST00000513628.1_Missense_Mutation_p.A59V|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.A221V|HSD17B4_ENST00000414835.2_Missense_Mutation_p.A56V|HSD17B4_ENST00000510025.1_Missense_Mutation_p.A172V	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	196	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GCTCCTAATGCGGGATCACGG	0.408													C|||	1	0.000199681	0	0.0014	5008	,	,		14973	0		0	False		,,,				2504	0				Colon(35;490 801 34689 41394 43344)												0													144	131	135					5																	118814681		2202	4300	6502	SO:0001583	missense	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.587C>T	5.37:g.118814681C>T	ENSP00000256216:p.Ala196Val		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.A196V	ENST00000256216.6	37	c.587	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.502566	0.96371	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.22	5.22	0.72569	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94381	0.8193	M	0.76433	2.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;P	0.97110	1.0;0.999;0.989;0.904	D	0.94772	0.7946	10	0.87932	D	0	-22.1316	18.7471	0.91797	0.0:1.0:0.0:0.0	.	221;178;172;196	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	V	196;178;172;221;56;59	ENSP00000256216:A196V;ENSP00000424613:A178V;ENSP00000424940:A172V;ENSP00000420914:A221V;ENSP00000411960:A56V;ENSP00000425993:A59V	ENSP00000256216:A196V	A	+	2	0	HSD17B4	118842580	1.000000	0.71417	0.265000	0.24526	0.978000	0.69477	7.670000	0.83925	2.586000	0.87340	0.655000	0.94253	GCG	HSD17B4	-	prints_DHB_DH	ENSG00000133835		0.408	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3		0	54	0	C	NM_000414		118814681	1			no_errors	ENST00000256216	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	118814681	C	T	118814681	3	4	23	1	0	0	0	0	1	0	0	0	7413	768	27	1	617	1	HSD17B4	5	118814681	Missense_Mutation	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09		118814681	62100579	10	6142											
UBE2D2	7322	genome.wustl.edu	37	chr5	139006354	139006354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtacaggtacaacagaataGctcgggaatggactcagaag	15	7	12	7	1	1	2	1	0	0	2	2	4	1	4	0	3	4	3	0	3	7	3			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr5:139006354G>T	ENST00000398733.3	+	7	1038	c.412G>T	c.(412-414)Gct>Tct	p.A138S	UBE2D2_ENST00000253815.2_Missense_Mutation_p.A109S|UBE2D2_ENST00000505548.1_Missense_Mutation_p.A109S|UBE2D2_ENST00000511725.1_Missense_Mutation_p.A109S	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	138					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAACAGAATAGCTCGGGAATG	0.378																																																	0													105	106	106					5																	139006354		2167	4298	6465	SO:0001583	missense	0			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"Ubiquitin-conjugating enzymes E2"	12475	protein-coding gene	gene with protein product		602962	"ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.412G>T	5.37:g.139006354G>T	ENSP00000381717:p.Ala138Ser		D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A138S	ENST00000398733.3	37	c.412	CCDS43369.1	5	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744183	0.49151	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000398734;ENST00000505548	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.04	5.04	0.67666	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.90595	3.13	0.80722	D	1	B	0.09022	0.002	B	0.40982	0.345	D	0.83484	0.0066	10	0.40728	T	0.16	.	18.5611	0.91100	0.0:0.0:1.0:0.0	.	138	P62837	UB2D2_HUMAN	S	109;138;109;138;109	ENSP00000429613:A109S;ENSP00000381717:A138S;ENSP00000253815:A109S;ENSP00000381718:A138S;ENSP00000424941:A109S	ENSP00000253815:A109S	A	+	1	0	UBE2D2	138986538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.536000	0.98067	2.608000	0.88229	0.655000	0.94253	GCT	UBE2D2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000131508		0.378	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D2	HGNC	protein_coding	OTTHUMT00000372454.3	-	0	47	0	G	NM_181838		139006354	1	tier1	-	no_errors	ENST00000398733	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	139006354	G	T	139006354	3	4	23	1	0	0	0	0	1	0	0	0	16898	971	34	3	438	3	UBE2D2	5	139006354	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	20191673	139006354	41908906	11	6143											
ABCF1	23	genome.wustl.edu	37	chr6	30545853	30545854	+	Splice_Site	INS	-	-	A																															gttcttttgctctcagcagcINSaaaaaaaaaagcgagatacc																								rs555740367		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:30545853_30545854insA	ENST00000326195.8	+	4	329_330	c.217_218insA	c.(217-219)caa>cAaa	p.Q73fs	ABCF1_ENST00000376545.3_Splice_Site_p.Q73fs|ABCF1_ENST00000396515.4_Splice_Site_p.Q73fs	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	73					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTCTCAGCAGCAAAAAAAAAAG	0.495																																																	0																																										SO:0001630	splice_region_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.217-1->A	6.37:g.30545863_30545863dupA			A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K77fs	ENST00000326195.8	37	c.217_218	CCDS34380.1	6																																																																																			ABCF1	-	NULL	ENSG00000204574		0.495	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3		0	19	0	-		Frame_Shift_Ins	30545854	1	tier1		no_errors	ENST00000326195	ensembl	human	known	74_37	frame_shift_ins	11.54	23	3	INS	1.000:1.000	A	A	30545854	-	A	30545853	8	5	23	1	0	1	1	0	0	0	1	0	65	724	25	0	231	0	ABCF1	6	30545853	Splice_Site	INS	-	TCGA-IG-A4QT-01A-21D-A27G-09		30545853	140569214	12	6144											
TDRD6	221400	genome.wustl.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A																															tcttaactggtataatccagINSaaaaaaaaatgataagagct																								rs145334816		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:46660414_46660415insA	ENST00000316081.6	+	1	4549_4550	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.E1517fs	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351																																																	0																																										SO:0001589	frameshift_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4558dupA	6.37:g.46660423_46660423dupA	ENSP00000346065:p.Glu1517fs		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.M1520fs	ENST00000316081.6	37	c.4549_4550	CCDS34470.1	6																																																																																			TDRD6	-	pfam_Tudor	ENSG00000180113		0.351	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1		0	27	0	-	XM_166443		46660415	1	tier1		no_errors	ENST00000316081	ensembl	human	known	74_37	frame_shift_ins	9.38	29	3	INS	0.002:0.009	A	A	46660415	-	A	46660414	7	5	23	1	0	1	1	0	0	0	0	0	15781	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-IG-A4QT-01A-21D-A27G-09	16114561	46660414	124454653	13	6145											
MDN1	23195	genome.wustl.edu	37	chr6	90371837	90371837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcattaattttgtcttcaCcttgtccaccatcatcagct	8	17	4	12	0	5	0	4	0	1	0	6	0	6	0	3	0	1	2	3	0	1	6	rs528018897	byFrequency	TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:90371837C>T	ENST00000369393.3	-	87	14649	c.14534G>A	c.(14533-14535)gGt>gAt	p.G4845D	MDN1_ENST00000428876.1_Missense_Mutation_p.G4845D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4845					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTTGTCTTCACCTTGTCCACC	0.388													C|||	5	0.000998403	0	0	5008	,	,		21126	0.005		0	False		,,,				2504	0																0													424	370	388					6																	90371837		2203	4299	6502	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14534G>A	6.37:g.90371837C>T	ENSP00000358400:p.Gly4845Asp		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.G4845D	ENST00000369393.3	37	c.14534	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	5.247	0.231040	0.09969	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03580	3.88;3.88	5.62	3.85	0.44370	.	0.409888	0.24866	N	0.034974	T	0.00784	0.0026	L	0.28556	0.865	0.25875	N	0.983668	B	0.06786	0.001	B	0.08055	0.003	T	0.48854	-0.8998	10	0.13470	T	0.59	.	4.8462	0.13514	0.0:0.54:0.1488:0.3112	.	4845	Q9NU22	MDN1_HUMAN	D	4845	ENSP00000358400:G4845D;ENSP00000413970:G4845D	ENSP00000358400:G4845D	G	-	2	0	MDN1	90428558	0.989000	0.36119	0.998000	0.56505	0.111000	0.19643	1.604000	0.36804	0.844000	0.35094	0.585000	0.79938	GGT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	81	0	C			90371837	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.996	T	T	90371837	C	T	90371837	3	4	23	1	0	0	0	0	1	0	0	0	9453	507	18	3	2320	3	MDN1	6	90371837	Missense_Mutation	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09	43711423	90371837	80743230	14	6146											
TRMT11	60487	genome.wustl.edu	37	chr6	126333975	126333975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaaggagataccaaaGgggatagaaaaatgggaaaa	21	4	12	4	0	1	3	1	0	0	3	1	6	1	5	1	4	1	0	1	4	8	2			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr6:126333975G>T	ENST00000334379.5	+	10	1105	c.984G>T	c.(982-984)aaG>aaT	p.K328N	TRMT11_ENST00000368332.3_Missense_Mutation_p.K328N	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	328					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		AGATACCAAAGGGGATAGAAA	0.383																																																	0													113	118	117					6																	126333975		2203	4300	6503	SO:0001583	missense	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.984G>T	6.37:g.126333975G>T	ENSP00000333934:p.Lys328Asn		E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pirsf_tRNA_mtfrase_TRM11,prints_N12N6_MeTrfase	p.K328N	ENST00000334379.5	37	c.984	CCDS35496.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.17|11.17	1.560146|1.560146	0.27827|0.27827	.|.	.|.	ENSG00000066651|ENSG00000066651	ENST00000453993|ENST00000334379;ENST00000368332	.|T;T	.|0.41065	.|1.01;1.01	5.83|5.83	1.57|1.57	0.23409|0.23409	.|.	.|0.090866	.|0.85682	.|D	.|0.000000	T|T	0.22936|0.22936	0.0554|0.0554	L|L	0.36672|0.36672	1.1|1.1	0.46586|0.46586	D|D	0.99911|0.99911	.|B;P	.|0.52577	.|0.034;0.954	.|B;P	.|0.54856	.|0.026;0.762	T|T	0.05007|0.05007	-1.0912|-1.0912	5|10	.|0.18710	.|T	.|0.47	-10.611|-10.611	6.1128|6.1128	0.20110|0.20110	0.5729:0.0:0.4271:0.0|0.5729:0.0:0.4271:0.0	.|.	.|328;328	.|Q7Z4G4-2;Q7Z4G4	.|.;TRM11_HUMAN	W|N	127|328	.|ENSP00000333934:K328N;ENSP00000357316:K328N	.|ENSP00000333934:K328N	G|K	+|+	1|3	0|2	TRMT11|TRMT11	126375668|126375668	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.986000|0.986000	0.74619|0.74619	0.981000|0.981000	0.29526|0.29526	0.396000|0.396000	0.25283|0.25283	-0.140000|-0.140000	0.14226|0.14226	GGG|AAG	TRMT11	-	pirsf_tRNA_mtfrase_TRM11	ENSG00000066651		0.383	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding		-	0	47	0	G	NM_021820		126333975	1	tier1	-	no_errors	ENST00000334379	ensembl	human	known	74_37	missense	9.38	28	3	SNP	0.645	T	T	126333975	G	T	126333975	3	4	23	1	0	0	0	0	1	0	0	0	16610	991	35	3	1022	3	TRMT11	6	126333975	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	35962138	126333975	44781092	15	6147											
C8orf41	80185	genome.wustl.edu	37	chr8	33357912	33357912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcctcctgtagcagggcGctcttaacagactcaggtgt	7	10	13	11	1	2	1	1	0	1	1	3	1	3	1	2	3	2	3	2	3	2	2	rs145192530		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:33357912G>T	ENST00000431156.2	-	7	1974	c.1356C>A	c.(1354-1356)agC>agA	p.S452R	TTI2_ENST00000360742.5_Missense_Mutation_p.S452R|TTI2_ENST00000520636.1_Missense_Mutation_p.S421R|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000519356.1_5'UTR	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	452																	GTAGCAGGGCGCTCTTAACAG	0.512																																																	0													102	88	93					8																	33357912		2203	4300	6503	SO:0001583	missense	0			AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"chromosome 8 open reading frame 41", "Tel2 interacting protein 2 homolog (S. pombe)"	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1356C>A	8.37:g.33357912G>T	ENSP00000411169:p.Ser452Arg		D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	pfam_DUF2454,superfamily_ARM-type_fold	p.S452R	ENST00000431156.2	37	c.1356	CCDS6090.1	8	.	.	.	.	.	.	.	.	.	.	G	1.568	-0.535000	0.04082	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636	T;T;T	0.54675	0.56;0.56;0.56	5.27	-10.5	0.00291	.	1.276350	0.04829	N	0.438355	T	0.36991	0.0987	M	0.63428	1.95	0.09310	N	1	P;P	0.39551	0.532;0.678	B;B	0.31495	0.063;0.131	T	0.11665	-1.0578	10	0.27785	T	0.31	-5.0E-4	6.728	0.23367	0.1075:0.2103:0.5346:0.1476	.	452;421	Q6NXR4;E5RIH5	TTI2_HUMAN;.	R	452;452;441;421	ENSP00000353971:S452R;ENSP00000411169:S452R;ENSP00000428401:S421R	ENSP00000353971:S452R	S	-	3	2	C8orf41	33477454	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-6.745000	0.00055	-2.770000	0.00365	-1.474000	0.01003	AGC	TTI2	-	superfamily_ARM-type_fold	ENSG00000129696		0.512	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI2	HGNC	protein_coding	OTTHUMT00000376555.1	-	0	80	0	G	NM_025115		33357912	-1	tier1	-	no_errors	ENST00000360742	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	33357912	G	T	33357912	3	4	23	1	0	0	0	0	1	0	0	0	2434	1078	38	2	178	2	C8orf41	8	33357912	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09		33357912	113006110	16	6148											
RP1	6101	genome.wustl.edu	37	chr8	55537883	55537883	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttcaagagaaaatgattGgacagttttcatatagtgaa	16	12	10	3	0	2	3	2	2	0	1	2	5	2	4	0	2	0	2	0	2	6	6			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:55537883G>T	ENST00000220676.1	+	4	1589	c.1441G>T	c.(1441-1443)Gga>Tga	p.G481*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	481					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.G481*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAAAATGATTGGACAGTTTTC	0.388																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Nonsense(1)	endometrium(1)											70	70	70					8																	55537883		2203	4300	6503	SO:0001587	stop_gained	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1441G>T	8.37:g.55537883G>T	ENSP00000220676:p.Gly481*			Nonsense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G481*	ENST00000220676.1	37	c.1441	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.318120	0.95682	.	.	ENSG00000104237	ENST00000220676	.	.	.	3.95	-1.58	0.08479	.	0.731884	0.11790	N	0.529298	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	9.3328	0.38032	0.4674:0.0:0.5326:0.0	.	.	.	.	X	481	.	ENSP00000220676:G481X	G	+	1	0	RP1	55700436	1.000000	0.71417	0.008000	0.14137	0.993000	0.82548	1.266000	0.33039	-0.844000	0.04184	0.655000	0.94253	GGA	RP1	-	NULL	ENSG00000104237		0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2		0	37	0	G	NM_006269		55537883	1			no_errors	ENST00000220676	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.604	T	T	55537883	G	T	55537883	4	4	23	1	0	0	0	0	0	1	0	0	13577	1349	47	3	1451	3	RP1	8	55537883	Nonsense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	22179971	55537883	90826139	17	6149											
DERL1	79139	genome.wustl.edu	37	chr8	124054277	124054277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctgatgaggccgagtttgCcgaccaagggcacggcgacg	8	5	17	11	5	0	2	0	2	0	0	0	5	0	2	3	4	1	3	3	4	1	1			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:124054277C>T	ENST00000259512.4	-	1	386	c.86G>A	c.(85-87)gGc>gAc	p.G29D	DERL1_ENST00000419562.2_Missense_Mutation_p.G29D|RNY4P5_ENST00000362808.1_RNA|DERL1_ENST00000405944.3_Missense_Mutation_p.G29D	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	29					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGAGTTTGCCGACCAAGGG	0.622																																																	0													73	58	63					8																	124054277		2203	4300	6503	SO:0001583	missense	0			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"Der1-like domain family, member 1"			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.86G>A	8.37:g.124054277C>T	ENSP00000259512:p.Gly29Asp		B3KW41|E9PH19	Missense_Mutation	SNP	pfam_DER1	p.G29D	ENST00000259512.4	37	c.86	CCDS6337.1	8	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656425	0.67586	.	.	ENSG00000136986	ENST00000259512;ENST00000405944;ENST00000419562	T;T;T	0.33654	1.46;1.46;1.4	5.79	4.91	0.64330	.	0.096087	0.64402	D	0.000001	T	0.56381	0.1981	M	0.79011	2.435	0.80722	D	1	D;P;P	0.54964	0.969;0.952;0.754	P;P;P	0.56751	0.689;0.805;0.756	T	0.59123	-0.7513	10	0.37606	T	0.19	.	16.8696	0.86038	0.0:0.8715:0.1285:0.0	.	29;29;29	B4E1G1;Q9BUN8-2;Q9BUN8	.;.;DERL1_HUMAN	D	29	ENSP00000259512:G29D;ENSP00000384289:G29D;ENSP00000389965:G29D	ENSP00000259512:G29D	G	-	2	0	DERL1	124123458	1.000000	0.71417	0.998000	0.56505	0.019000	0.09904	7.033000	0.76504	1.438000	0.47492	-0.533000	0.04299	GGC	DERL1	-	pfam_DER1	ENSG00000136986		0.622	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2	-	0	112	0	C	NM_024295		124054277	-1	tier1	-	no_errors	ENST00000259512	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	124054277	C	T	124054277	3	4	23	1	0	0	0	0	1	0	0	0	4460	739	26	3	701	3	DERL1	8	124054277	Missense_Mutation	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09	68516394	124054277	22309745	18	6150											
COL22A1	169044	genome.wustl.edu	37	chr8	139697551	139697551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccttcttcccccgctGcaccctggaaagaaaagtag	9	8	10	14	1	1	1	0	0	1	1	2	2	2	2	4	2	2	4	4	2	4	3			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:139697551G>A	ENST00000303045.6	-	38	3313	c.2867C>T	c.(2866-2868)gCa>gTa	p.A956V	COL22A1_ENST00000435777.1_Missense_Mutation_p.A956V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	956	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCCCCGCTGCACCCTGGAA	0.582										HNSCC(7;0.00092)																																							0													28	29	29					8																	139697551		2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2867C>T	8.37:g.139697551G>A	ENSP00000303153:p.Ala956Val		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A956V	ENST00000303045.6	37	c.2867	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	5.890	0.348353	0.11126	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93488	-3.23;-3.23	4.77	3.82	0.43975	.	0.774115	0.10891	U	0.622720	D	0.88731	0.6516	L	0.37697	1.125	0.09310	N	1	B;B	0.23650	0.03;0.089	B;B	0.25614	0.037;0.062	T	0.77768	-0.2464	10	0.29301	T	0.29	.	9.2702	0.37666	0.0:0.0:0.7691:0.2309	.	956;956	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	956;956;669	ENSP00000303153:A956V;ENSP00000387655:A956V	ENSP00000303153:A956V	A	-	2	0	COL22A1	139766733	0.001000	0.12720	0.040000	0.18447	0.001000	0.01503	0.838000	0.27572	2.481000	0.83766	0.448000	0.29417	GCA	COL22A1	-	pfam_Collagen	ENSG00000169436		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2		0	29	0	G	XM_291257		139697551	-1			no_errors	ENST00000303045	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.012	A	A	139697551	G	A	139697551	3	1	23	1	0	0	0	0	1	0	0	0	3688	1319	46	3	2125	3	COL22A1	8	139697551	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	15643274	139697551	6666471	19	6151											
KIFC2	90990	genome.wustl.edu	37	chr8	145697980	145697980	+	Frame_Shift_Del	DEL	C	C	-																															atgctgaaactggggaggagCaaccgggccaccgccgccac																										TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr8:145697980delC	ENST00000301332.2	+	16	2129	c.1752delC	c.(1750-1752)agcfs	p.S584fs	KIFC2_ENST00000301331.5_Intron|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	584	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGGAGGAGCAACCGGGCCA	0.726																																																	0													14	20	18					8																	145697980		2191	4276	6467	SO:0001589	frameshift_variant	0			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1752delC	8.37:g.145697980delC	ENSP00000301332:p.Ser584fs		E9PHB2|Q96NN6	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S584fs	ENST00000301332.2	37	c.1752	CCDS6427.1	8																																																																																			KIFC2	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000167702		0.726	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2		0	16	0	C	NM_145754		145697980	1	tier1		no_errors	ENST00000301332	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.976	-	-	145697980	C	-	145697980	7	5	23	1	0	1	0	1	0	0	0	0	8340	709	25	0	1814	0	KIFC2	8	145697980	Frame_Shift_Del	DEL	C	TCGA-IG-A4QT-01A-21D-A27G-09	6000429	145697980	666042	20	6152											
NR4A3	8013	genome.wustl.edu	37	chr9	102590532	102590532	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctactcgagcaactacGaactcaagccttcctgcgtg	10	8	10	13	3	1	0	1	0	0	0	3	2	2	0	2	1	7	2	2	1	5	3			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr9:102590532G>T	ENST00000395097.2	+	3	937	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	NR4A3_ENST00000330847.1_Nonsense_Mutation_p.E81*|NR4A3_ENST00000338488.4_Nonsense_Mutation_p.E70*	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	70					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGCAACTACGAACTCAAGCC	0.597			T	EWSR1	extraskeletal myxoid chondrosarcoma																																			Dom	yes		9	9q22	8013	"nuclear receptor subfamily 4, group A, member 3 (NOR1)"		M	0													120	98	106					9																	102590532		2203	4300	6503	SO:0001587	stop_gained	0			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"Nuclear hormone receptors"	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.208G>T	9.37:g.102590532G>T	ENSP00000378531:p.Glu70*		A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E81*	ENST00000395097.2	37	c.241	CCDS6743.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.468471	0.96274	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000330847	.	.	.	5.47	4.56	0.56223	.	2.442790	0.01103	N	0.005410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9723	0.80031	0.0:0.0:0.864:0.136	.	.	.	.	X	70;70;81	.	ENSP00000333122:E81X	E	+	1	0	NR4A3	101630353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.700000	0.98707	1.424000	0.47217	0.557000	0.71058	GAA	NR4A3	-	NULL	ENSG00000119508		0.597	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A3	HGNC	protein_coding	OTTHUMT00000055482.1		0	17	0	G			102590532	1			no_errors	ENST00000330847	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	1.000	T	T	102590532	G	T	102590532	4	4	23	1	0	0	0	0	0	1	0	0	10673	1059	37	2	247	2	NR4A3	9	102590532	Nonsense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09		102590532	38622899	21	6153											
MRRF	92399	genome.wustl.edu	37	chr9	125084867	125084867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaactggacaggcatctgGcagtgaagaccaaagaactc	15	5	11	10	0	1	4	0	1	1	3	2	5	1	5	1	3	2	2	1	3	4	0			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr9:125084867G>A	ENST00000344641.3	+	7	1071	c.760G>A	c.(760-762)Gca>Aca	p.A254T	RP11-498E2.7_ENST00000602625.1_lincRNA|MRRF_ENST00000394315.3_Nonsense_Mutation_p.W200*|MRRF_ENST00000373723.5_Nonsense_Mutation_p.W200*|MRRF_ENST00000373729.1_Missense_Mutation_p.A210T|MRRF_ENST00000297908.3_Missense_Mutation_p.A202T	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	254					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CAGGCATCTGGCAGTGAAGAC	0.517																																																	0													75	65	68					9																	125084867		2203	4300	6503	SO:0001583	missense	0			AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.760G>A	9.37:g.125084867G>A	ENSP00000343867:p.Ala254Thr		A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Nonsense_Mutation	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.W200*	ENST00000344641.3	37	c.600	CCDS6840.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.844169|6.844169	0.97881|0.97881	.|.	.|.	ENSG00000148187|ENSG00000148187	ENST00000297908;ENST00000344641;ENST00000373729|ENST00000373723;ENST00000394315	T;T;T|.	0.47177|.	0.85;0.85;0.85|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Ribosome recycling factor domain (2);|.	0.047907|.	0.85682|.	D|.	0.000000|.	T|.	0.77883|.	0.4197|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;P|.	0.34977|.	0.34;0.478|.	B;B|.	0.35931|.	0.108;0.214|.	T|.	0.79475|.	-0.1788|.	9|.	0.54805|0.66056	T|D	0.06|0.02	-2.6346|-2.6346	18.6699|18.6699	0.91507|0.91507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	202;254|.	Q96E11-8;Q96E11|.	.;RRFM_HUMAN|.	T|X	202;254;210|200	ENSP00000297908:A202T;ENSP00000343867:A254T;ENSP00000362834:A210T|.	ENSP00000297908:A202T|ENSP00000362828:W200X	A|W	+|+	1|3	0|0	MRRF|MRRF	124124688|124124688	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.034000|5.034000	0.64152|0.64152	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	GCA|TGG	MRRF	-	NULL	ENSG00000148187		0.517	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRRF	HGNC	protein_coding	OTTHUMT00000053914.1	-	0	56	0	G	NM_138777		125084867	1	tier1	-	no_errors	ENST00000373723	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	A	A	125084867	G	A	125084867	3	1	23	1	0	0	0	0	1	0	0	0	9888	1212	42	3	782	3	MRRF	9	125084867	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	22494335	125084867	16128564	22	6154											
GPRIN2	9721	genome.wustl.edu	37	chr10	46999608	46999608	+	Frame_Shift_Del	DEL	C	C	-																															tggcatgagggaggtgagggCtggtggctgctgccatgccc																								rs374420863		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr10:46999608delC	ENST00000374317.1	+	3	1001	c.728delC	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Del_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGTGAGGGCTGGTGGCTGC	0.632																																																	0													53	57	56					10																	46999608		2203	4300	6503	SO:0001589	frameshift_variant	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.728delC	10.37:g.46999608delC	ENSP00000363436:p.Ala243fs		Q5SVF0	Frame_Shift_Del	DEL	NULL	p.A243fs	ENST00000374317.1	37	c.728	CCDS31192.1	10																																																																																			GPRIN2	-	NULL	ENSG00000204175		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1		0	72	0	C	NM_014696		46999608	1	tier1		no_errors	ENST00000374314	ensembl	human	known	74_37	frame_shift_del	9.86	64	7	DEL	0.001	-	-	46999608	C	-	46999608	7	5	23	1	0	1	0	1	0	0	0	0	6757	797	28	0	730	0	GPRIN2	10	46999608	Frame_Shift_Del	DEL	C	TCGA-IG-A4QT-01A-21D-A27G-09		46999608	88535139	23	6155											
GDF10	2662	genome.wustl.edu	37	chr10	48438447	48438447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcccggccgcgcgccctgCcggctgtacttctcatagag	4	8	11	18	5	1	1	1	0	1	1	3	1	2	1	5	2	2	2	5	2	2	3			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr10:48438447C>T	ENST00000224605.2	-	1	529	c.264G>A	c.(262-264)cgG>cgA	p.R88R		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	88					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCGCGCCCTGCCGGCTGTACT	0.682																																																	0													18	15	16					10																	48438447		2192	4290	6482	SO:0001819	synonymous_variant	0			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.264G>A	10.37:g.48438447C>T			Q5VSQ8|Q9UCX6	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.R88	ENST00000224605.2	37	c.264	CCDS7220.1	10																																																																																			GDF10	-	pfam_TGF-b_N,pirsf_BMP3/GDF10	ENSG00000107623		0.682	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	HGNC	protein_coding	OTTHUMT00000047884.1	-	0	58	0	C	NM_004962		48438447	-1	tier1	-	no_errors	ENST00000224605	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.980	T	T	48438447	C	T	48438447	2	4	23	1	0	0	0	0	0	0	0	1	6337	726	26	3		3	GDF10	10	48438447	Silent	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09	1438839	48438447	87096300	24	6156											
RNLS	55328	genome.wustl.edu	37	chr10	90122415	90122415	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtaccagcttcataaaaGaggcccagagcatatcgaga	14	8	9	10	2	1	3	1	0	0	3	3	4	1	3	2	1	3	3	2	1	4	5			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr10:90122415G>T	ENST00000331772.4	-	5	616	c.594C>A	c.(592-594)ctC>ctA	p.L198L	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.L115L|RNLS_ENST00000371947.3_Silent_p.L198L	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	198					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CTTCATAAAAGAGGCCCAGAG	0.453																																																	0													119	110	113					10																	90122415		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.594C>A	10.37:g.90122415G>T			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.L198	ENST00000331772.4	37	c.594	CCDS31239.1	10																																																																																			RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.453	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1		0	25	0	G	NM_018363		90122415	-1			no_errors	ENST00000331772	ensembl	human	known	74_37	silent	5.00	37	2	SNP	1.000	T	T	90122415	G	T	90122415	2	4	23	1	0	0	0	0	0	0	0	1	13550	929	33	3		3	RNLS	10	90122415	Silent	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	41683968	90122415	45412332	25	6157											
OR5L1	219437	genome.wustl.edu	37	chr11	55579776	55579776	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggccaccgtgttctaCacagtcgtgattcctatgct	9	12	9	11	2	1	1	0	1	1	0	3	1	2	1	3	1	2	2	3	1	3	4			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr11:55579776C>T	ENST00000333973.2	+	1	923	c.834C>T	c.(832-834)taC>taT	p.Y278Y		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y278*(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCGTGTTCTACACAGTCGTGA	0.453																																																	1	Substitution - Nonsense(1)	lung(1)											73	68	70					11																	55579776		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.834C>T	11.37:g.55579776C>T			B2RNK6|Q6IFD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y278	ENST00000333973.2	37	c.834	CCDS31509.1	11																																																																																			OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186117		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1		0	25	0	C	NM_001004738		55579776	1			no_errors	ENST00000333973	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.252	T	T	55579776	C	T	55579776	2	4	23	1	0	0	0	0	0	0	0	1	11209	489	17	3		3	OR5L1	11	55579776	Silent	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09		55579776	79426740	26	6158											
FOXRED1	55572	genome.wustl.edu	37	chr11	126147446	126147446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actggcttcagtggtcacggGctccagcaggcccctggcat	6	8	13	14	1	2	0	2	0	0	0	3	0	3	0	3	5	1	4	3	5	0	1			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr11:126147446G>T	ENST00000263578.5	+	11	1397	c.1323G>T	c.(1321-1323)ggG>ggT	p.G441G	FOXRED1_ENST00000442061.2_Silent_p.G271G|FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Silent_p.G427G	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	441						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GTGGTCACGGGCTCCAGCAGG	0.572																																																	0													70	66	67					11																	126147446		2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.1323G>T	11.37:g.126147446G>T			B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Silent	SNP	pfam_FAD-dep_OxRdtase	p.G441	ENST00000263578.5	37	c.1323	CCDS8471.1	11																																																																																			FOXRED1	-	pfam_FAD-dep_OxRdtase	ENSG00000110074		0.572	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1		0	43	0	G	NM_017547		126147446	1			no_errors	ENST00000263578	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.985	T	T	126147446	G	T	126147446	2	4	23	1	0	0	0	0	0	0	0	1	6057	1190	42	3		3	FOXRED1	11	126147446	Silent	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	70567670	126147446	8859070	27	6159											
STYK1	55359	genome.wustl.edu	37	chr12	10772915	10772915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggggcggtcagcctcaCgccagcgccagcaggacttc	7	5	15	14	3	2	1	2	1	0	0	3	2	2	2	3	4	3	1	3	4	0	1	rs189204525		TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr12:10772915C>T	ENST00000075503.3	-	11	1617	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	366	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R366H(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GTCAGCCTCACGCCAGCGCCA	0.532										HNSCC(73;0.22)			C|||	1	0.000199681	0	0.0014	5008	,	,		18681	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											119	124	122					12																	10772915		2203	4300	6503	SO:0001583	missense	0			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1097G>A	12.37:g.10772915C>T	ENSP00000075503:p.Arg366His		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R366H	ENST00000075503.3	37	c.1097	CCDS8629.1	12	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.874	0.950067	0.18431	.	.	ENSG00000060140	ENST00000075503	T	0.69435	-0.4	5.28	2.5	0.30297	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.473046	0.23211	N	0.050673	T	0.50752	0.1634	L	0.33668	1.02	0.25321	N	0.989118	B	0.02656	0.0	B	0.04013	0.001	T	0.38887	-0.9640	10	0.40728	T	0.16	-0.2889	7.4085	0.27004	0.0:0.6522:0.0:0.3478	.	366	Q6J9G0	STYK1_HUMAN	H	366	ENSP00000075503:R366H	ENSP00000075503:R366H	R	-	2	0	STYK1	10664182	0.010000	0.17322	0.998000	0.56505	0.225000	0.24961	-0.675000	0.05227	0.241000	0.21283	-0.244000	0.11960	CGT	STYK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000060140		0.532	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1		0	32	0	C	NM_018423		10772915	-1			no_errors	ENST00000075503	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.998	T	T	10772915	C	T	10772915	3	4	23	1	0	0	0	0	1	0	0	0	15406	536	19	1	175	1	STYK1	12	10772915	Missense_Mutation	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09		10772915	123078980	28	6160											
TEP1	7011	genome.wustl.edu	37	chr14	20851740	20851740	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatcaggacctgggtctgGccaggatgcagggactcagc	9	7	15	10	0	3	1	2	1	1	0	3	4	3	4	2	5	2	1	2	5	0	0			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr14:20851740G>T	ENST00000262715.5	-	26	3814	c.3774C>A	c.(3772-3774)ggC>ggA	p.G1258G	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.G1150G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1258	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTGGGTCTGGCCAGGATGCA	0.577																																																	0													46	47	46					14																	20851740		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3774C>A	14.37:g.20851740G>T			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1258	ENST00000262715.5	37	c.3774	CCDS9548.1	14																																																																																			TEP1	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000129566		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0	33	0	G	NM_007110		20851740	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.999	T	T	20851740	G	T	20851740	2	4	23	1	0	0	0	0	0	0	0	1	15806	1190	42	3		3	TEP1	14	20851740	Silent	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09		20851740	86497800	29	6161											
OR5AU1	390445	genome.wustl.edu	37	chr14	21623832	21623832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtagcagaaatccaagaagGagaggctcttcaggagggag	15	5	15	6	0	2	3	1	0	1	3	3	6	3	5	1	4	1	3	1	4	4	2			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr14:21623832G>T	ENST00000304418.3	-	1	390	c.353C>A	c.(352-354)tCc>tAc	p.S118Y		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATCCAAGAAGGAGAGGCTCTT	0.532																																																	0													95	78	84					14																	21623832		2203	4300	6503	SO:0001583	missense	0			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.353C>A	14.37:g.21623832G>T	ENSP00000302057:p.Ser118Tyr		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S118Y	ENST00000304418.3	37	c.353	CCDS32042.1	14	.	.	.	.	.	.	.	.	.	.	G	15.11	2.734962	0.48939	.	.	ENSG00000169327	ENST00000304418	T	0.12361	2.69	4.34	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45135	0.1327	M	0.91140	3.18	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	T	0.57751	-0.7757	9	0.87932	D	0	.	14.4122	0.67121	0.0:0.0:1.0:0.0	.	118	Q8NGC0	O5AU1_HUMAN	Y	118	ENSP00000302057:S118Y	ENSP00000302057:S118Y	S	-	2	0	OR5AU1	20693672	0.999000	0.42202	0.955000	0.39395	0.168000	0.22595	5.635000	0.67841	2.265000	0.75225	0.491000	0.48974	TCC	OR5AU1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169327		0.532	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AU1	HGNC	protein_coding	OTTHUMT00000410213.1	-	0	70	0	G			21623832	-1	tier1	-	no_errors	ENST00000304418	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	21623832	G	T	21623832	3	4	23	1	0	0	0	0	1	0	0	0	11186	1174	41	3	738	3	OR5AU1	14	21623832	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09	772092	21623832	85725708	30	6162											
FBN1	2200	genome.wustl.edu	37	chr15	48777639	48777639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattcatagctgccttcaGagtttgtgcagaaggtttca	10	14	9	8	0	3	2	3	0	0	2	3	2	3	2	1	1	4	4	1	1	3	6			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr15:48777639G>T	ENST00000316623.5	-	30	4099	c.3644C>A	c.(3643-3645)tCt>tAt	p.S1215Y		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1215	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.S1215C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTGCCTTCAGAGTTTGTGCA	0.418																																																	1	Substitution - Missense(1)	lung(1)											124	112	116					15																	48777639		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3644C>A	15.37:g.48777639G>T	ENSP00000325527:p.Ser1215Tyr		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.S1215Y	ENST00000316623.5	37	c.3644	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.132480	0.94473	.	.	ENSG00000166147	ENST00000316623	D	0.96716	-4.1	6.05	6.05	0.98169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.055257	0.85682	D	0.000000	D	0.94195	0.8137	N	0.10664	0.02	0.80722	D	1	D	0.55385	0.971	P	0.52159	0.691	D	0.95203	0.8318	10	0.72032	D	0.01	.	20.2037	0.98272	0.0:0.0:1.0:0.0	.	1215	P35555	FBN1_HUMAN	Y	1215	ENSP00000325527:S1215Y	ENSP00000325527:S1215Y	S	-	2	0	FBN1	46564931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.866000	0.98385	0.650000	0.86243	TCT	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000166147		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1		0	54	0	G			48777639	-1			no_errors	ENST00000316623	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	48777639	G	T	48777639	3	4	23	1	0	0	0	0	1	0	0	0	5724	942	33	3	5119	3	FBN1	15	48777639	Missense_Mutation	SNP	G	TCGA-IG-A4QT-01A-21D-A27G-09		48777639	53753753	31	6163											
UBXN6	80700	genome.wustl.edu	37	chr19	4453480	4453480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccctggggcctcggggCtcccgctgacggtggcttcg	1	9	17	14	4	0	1	0	1	0	0	4	1	2	1	3	7	0	3	3	7	0	1			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr19:4453480C>T	ENST00000301281.6	-	3	411	c.287G>A	c.(286-288)aGc>aAc	p.S96N	UBXN6_ENST00000394765.3_Missense_Mutation_p.S43N|CTB-50L17.9_ENST00000592034.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	96						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GGCCTCGGGGCTCCCGCTGAC	0.622																																																	0													58	51	53					19																	4453480		2203	4300	6503	SO:0001583	missense	0			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.287G>A	19.37:g.4453480C>T	ENSP00000301281:p.Ser96Asn		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.S96N	ENST00000301281.6	37	c.287	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244053	0.22796	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.46063	0.88;0.88	3.75	-3.0	0.05480	.	0.912428	0.09454	N	0.799969	T	0.19127	0.0459	N	0.16478	0.41	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.25779	-1.0122	10	0.15066	T	0.55	-5.6768	3.5874	0.07975	0.1774:0.3598:0.0:0.4628	.	43;96	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	N	96;43	ENSP00000301281:S96N;ENSP00000378246:S43N	ENSP00000301281:S96N	S	-	2	0	UBXN6	4404480	0.000000	0.05858	0.000000	0.03702	0.474000	0.32979	-0.961000	0.03845	-0.285000	0.09089	-0.339000	0.08088	AGC	UBXN6	-	NULL	ENSG00000167671		0.622	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3	-	0	19	0	C	NM_025241		4453480	-1	tier1	-	no_errors	ENST00000301281	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	T	T	4453480	C	T	4453480	3	4	23	1	0	0	0	0	1	0	0	0	16966	797	28	3	1074	3	UBXN6	19	4453480	Missense_Mutation	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09		4453480	54675503	32	6164											
CILP2	148113	genome.wustl.edu	37	chr19	19656499	19656499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagctgccttctccatgCtggcccccctagaccctctg	5	9	7	20	0	2	1	0	0	2	1	3	1	2	1	7	1	3	2	7	1	1	2			TCGA-IG-A4QT-01A-21D-A27G-09	TCGA-IG-A4QT-10A-02D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c70203be-20a3-486b-960a-ce6e84f501a4	b0daba86-7d54-4faf-bcd8-8c2b10f4e42d	g.chr19:19656499C>T	ENST00000291495.5	+	8	3230	c.3145C>T	c.(3145-3147)Ctg>Ttg	p.L1049L	CILP2_ENST00000586018.1_Silent_p.L1055L	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	1049						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTTCTCCATGCTGGCCCCCCT	0.667																																																	0													30	23	25					19																	19656499		2203	4300	6503	SO:0001819	synonymous_variant	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.3145C>T	19.37:g.19656499C>T			Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L1049	ENST00000291495.5	37	c.3145	CCDS12405.1	19																																																																																			CILP2	-	NULL	ENSG00000160161		0.667	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3		0	60	0	C	NM_153221		19656499	1			no_errors	ENST00000291495	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.997	T	T	19656499	C	T	19656499	2	4	23	1	0	0	0	0	0	0	0	1	3437	796	28	3		3	CILP2	19	19656499	Silent	SNP	C	TCGA-IG-A4QT-01A-21D-A27G-09	15203019	19656499	39472484	33	6165											
CCNL2	81669	genome.wustl.edu	37	chr1	1326172	1326172	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgggcagcaagataaaTgcaggcacaggcgatgctct	11	6	13	11	3	1	1	0	0	1	1	2	2	2	1	1	3	3	5	1	3	3	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:1326172T>A	ENST00000400809.3	-	6	738	c.733A>T	c.(733-735)Att>Ttt	p.I245F	CCNL2_ENST00000408952.5_Missense_Mutation_p.I23F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	245	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCAAGATAAATGCAGGCACAG	0.502																																																	0													81	83	82					1																	1326172		2203	4296	6499	SO:0001583	missense	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.733A>T	1.37:g.1326172T>A	ENSP00000383611:p.Ile245Phe		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.I245F	ENST00000400809.3	37	c.733	CCDS30557.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.163932	0.94727	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.24350	1.86;1.86	5.84	5.84	0.93424	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.88377	2.95	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66168	-0.5991	10	0.66056	D	0.02	.	15.397	0.74805	0.0:0.0:0.0:1.0	.	245	Q96S94	CCNL2_HUMAN	F	245;23	ENSP00000383611:I245F;ENSP00000386132:I23F	ENSP00000383611:I245F	I	-	1	0	CCNL2	1316035	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.641000	0.83368	2.243000	0.73865	0.533000	0.62120	ATT	CCNL2	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	ENSG00000221978		0.502	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	-	0	22	0	T	NM_030937		1326172	-1	tier1	-	no_errors	ENST00000400809	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	A	A	1326172	T	A	1326172	3	1	24	1	0	0	0	0	1	0	0	0	2939	1464	51	5	853	5	CCNL2	1	1326172	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09		1326172	247924449	1	6166											
SESN2	83667	genome.wustl.edu	37	chr1	28599234	28599234	+	Frame_Shift_Del	DEL	C	C	-																															ggatgcagatggcagccctgCcccccaggcacctacacccc																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:28599234delC	ENST00000253063.3	+	5	1001	c.680delC	c.(679-681)gccfs	p.A227fs		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	227					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGCCCTGCCCCCCAGGCA	0.632																																																	0													70	63	65					1																	28599234		2203	4300	6503	SO:0001589	frameshift_variant	0			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.680delC	1.37:g.28599234delC	ENSP00000253063:p.Ala227fs		Q5T7D0|Q96SI5	Frame_Shift_Del	DEL	pfam_PA26	p.Q229fs	ENST00000253063.3	37	c.680	CCDS321.1	1																																																																																			SESN2	-	pfam_PA26	ENSG00000130766		0.632	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1		0	28	0	C			28599234	1	tier1		no_errors	ENST00000253063	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.924	-	-	28599234	C	-	28599234	7	5	24	1	0	1	0	1	0	0	0	0	14170	739	26	0	698	0	SESN2	1	28599234	Frame_Shift_Del	DEL	C	TCGA-IG-A50L-01A-11D-A27G-09	27273062	28599234	220651387	2	6167											
BSDC1	55108	genome.wustl.edu	37	chr1	32846840	32846840	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcattacagtaggttgcTgggtccgactgcaggctata	8	12	13	8	1	1	0	1	0	0	0	2	1	2	0	1	4	3	6	1	4	4	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:32846840T>C	ENST00000455895.2	-	5	420	c.387A>G	c.(385-387)ccA>ccG	p.P129P	BSDC1_ENST00000526031.1_Silent_p.P34P|BSDC1_ENST00000413080.1_Silent_p.P129P|BSDC1_ENST00000449308.1_Silent_p.P129P|BSDC1_ENST00000419121.2_Silent_p.P73P|BSDC1_ENST00000341071.7_Silent_p.P146P|BSDC1_ENST00000446293.2_Silent_p.P146P	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	129										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGTAGGTTGCTGGGTCCGACT	0.512																																																	0													64	61	62					1																	32846840		2203	4300	6503	SO:0001819	synonymous_variant	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.387A>G	1.37:g.32846840T>C			B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.P146	ENST00000455895.2	37	c.438	CCDS363.2	1																																																																																			BSDC1	-	NULL	ENSG00000160058		0.512	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	-	0	20	0	T	NM_018045		32846840	-1	tier1	-	no_errors	ENST00000341071	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.923	C	C	32846840	T	C	32846840	2	2	24	1	0	0	0	0	0	0	0	1	1532	1567	55	4		4	BSDC1	1	32846840	Silent	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	4247606	32846840	216403781	3	6168											
ZMYM4	9202	genome.wustl.edu	37	chr1	35857881	35857881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagattcgactccagttAtagccaatgtagtatcattg	14	12	8	7	1	1	1	1	0	0	1	3	3	2	1	2	0	1	3	2	0	7	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:35857881A>G	ENST00000314607.6	+	16	2736	c.2656A>G	c.(2656-2658)Ata>Gta	p.I886V	ZMYM4_ENST00000373297.2_Missense_Mutation_p.I797V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	886					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACTCCAGTTATAGCCAATGT	0.408																																																	0													78	74	75					1																	35857881		2203	4300	6503	SO:0001583	missense	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2656A>G	1.37:g.35857881A>G	ENSP00000322915:p.Ile886Val		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.I886V	ENST00000314607.6	37	c.2656	CCDS389.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.324911|4.324911	0.81580|0.81580	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.31510|.	1.55;1.49|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74230|0.74230	0.3689|0.3689	M|M	0.74647|0.74647	2.275|2.275	0.47153|0.47153	D|D	0.999337|0.999337	P|.	0.45715|.	0.865|.	P|.	0.52066|.	0.689|.	T|T	0.75365|0.75365	-0.3343|-0.3343	10|5	0.34782|.	T|.	0.22|.	-12.9619|-12.9619	14.9464|14.9464	0.71035|0.71035	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	886|.	Q5VZL5|.	ZMYM4_HUMAN|.	V|C	886;797|545	ENSP00000322915:I886V;ENSP00000362394:I797V|.	ENSP00000322915:I886V|.	I|Y	+|+	1|2	0|0	ZMYM4|ZMYM4	35630468|35630468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	7.725000|7.725000	0.84808|0.84808	1.994000|1.994000	0.58287|0.58287	0.482000|0.482000	0.46254|0.46254	ATA|TAT	ZMYM4	-	NULL	ENSG00000146463		0.408	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	-	0	44	0	A	NM_005095		35857881	1	tier1	-	no_errors	ENST00000314607	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	G	G	35857881	A	G	35857881	3	3	24	1	0	0	0	0	1	0	0	0	17750	449	16	4	2718	4	ZMYM4	1	35857881	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	3011041	35857881	213392740	4	6169											
BARHL2	343472	genome.wustl.edu	37	chr1	91182354	91182354	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggaagtcctgggggcCgaggcggccgagcccagctg	6	4	19	12	4	0	0	0	0	0	0	1	4	1	1	4	5	2	1	4	5	1	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:91182354C>A	ENST00000370445.4	-	1	440	c.399G>T	c.(397-399)tcG>tcT	p.S133S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	133					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		TCCTGGGGGCCGAGGCGGCCG	0.647																																					GBM(199;3561 4100 22440)												0													11	12	12					1																	91182354		2078	4119	6197	SO:0001819	synonymous_variant	0			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.399G>T	1.37:g.91182354C>A			A0AVP2|Q7Z4N7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.S133	ENST00000370445.4	37	c.399	CCDS730.1	1																																																																																			BARHL2	-	NULL	ENSG00000143032		0.647	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2		0	9	0	C			91182354	-1			no_errors	ENST00000370445	ensembl	human	known	74_37	silent	66.67	1	2	SNP	0.992	A	A	91182354	C	A	91182354	2	1	24	1	0	0	0	0	0	0	0	1	1315	639	23	2		2	BARHL2	1	91182354	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	55324473	91182354	158068267	5	6170											
OLFM3	118427	genome.wustl.edu	37	chr1	102269966	102269966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcatatgtggaggttttgGtggaataggaataatacacc	13	12	11	5	0	1	0	1	0	0	0	1	3	1	3	1	5	1	1	1	5	6	6	rs369114043		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:102269966G>T	ENST00000338858.5	-	6	1264	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	OLFM3_ENST00000370103.4_Missense_Mutation_p.T402N|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	422	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGAGGTTTTGGTGGAATAGGA	0.443																																																	0													272	236	248					1																	102269966		2203	4300	6503	SO:0001583	missense	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1265C>A	1.37:g.102269966G>T	ENSP00000345192:p.Thr422Asn		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.T422N	ENST00000338858.5	37	c.1265		1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095269	0.76870	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.89939	-2.59;-2.59	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.96213	0.8765	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.992;0.995	D	0.96647	0.9478	10	0.87932	D	0	.	19.9831	0.97336	0.0:0.0:1.0:0.0	.	402;422	Q5T3V6;Q96PB7	.;NOE3_HUMAN	N	402;422	ENSP00000359121:T402N;ENSP00000345192:T422N	ENSP00000345192:T422N	T	-	2	0	OLFM3	102042554	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	ACC	OLFM3	-	pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	ENSG00000118733		0.443	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	-	0	53	0	G			102269966	-1	tier1	-	no_errors	ENST00000338858	ensembl	human	known	74_37	missense	18.00	41	9	SNP	1.000	T	T	102269966	G	T	102269966	3	4	24	1	0	0	0	0	1	0	0	0	10893	1261	44	3	175	3	OLFM3	1	102269966	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	11087612	102269966	146980655	6	6171											
LCE2A	353139	genome.wustl.edu	37	chr1	152671424	152671424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagccccctcccaagtGccccccaaaatgcccaccca	9	4	6	22	0	0	0	0	0	0	0	1	0	1	0	9	0	4	0	9	0	3	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:152671424G>T	ENST00000368779.1	+	2	98	c.47G>T	c.(46-48)tGc>tTc	p.C16F		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	16	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCCAAGTGCCCCCCAAAA	0.572																																																	0													70	84	79					1																	152671424		2203	4300	6503	SO:0001583	missense	0				CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"Late cornified envelopes"	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.47G>T	1.37:g.152671424G>T	ENSP00000357768:p.Cys16Phe		A4QMZ9	Missense_Mutation	SNP	NULL	p.C16F	ENST00000368779.1	37	c.47	CCDS1021.1	1	.	.	.	.	.	.	.	.	.	.	G	6.295	0.422545	0.11928	.	.	ENSG00000187173	ENST00000368779	T	0.10005	2.92	4.72	2.79	0.32731	.	.	.	.	.	T	0.07458	0.0188	M	0.90252	3.1	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.30031	-0.9992	9	0.87932	D	0	.	5.7352	0.18063	0.1031:0.0:0.705:0.192	.	16	Q5TA79	LCE2A_HUMAN	F	16	ENSP00000357768:C16F	ENSP00000357768:C16F	C	+	2	0	LCE2A	150938048	0.982000	0.34865	0.014000	0.15608	0.864000	0.49448	2.031000	0.41117	0.377000	0.24735	0.557000	0.71058	TGC	LCE2A	-	NULL	ENSG00000187173		0.572	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2A	HGNC	protein_coding	OTTHUMT00000034512.1	-	0	58	0	G	NM_178428		152671424	1	tier1	-	no_errors	ENST00000368779	ensembl	human	known	74_37	missense	15.07	62	11	SNP	0.100	T	T	152671424	G	T	152671424	3	4	24	1	0	0	0	0	1	0	0	0	8693	1319	46	3	49	3	LCE2A	1	152671424	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	50401458	152671424	96579197	7	6172											
ATP8B2	57198	genome.wustl.edu	37	chr1	154303339	154303339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctcaccttcctgcctGtcaacctctttgagcagttc	7	15	5	14	0	3	1	2	1	2	0	6	1	4	1	4	0	3	2	4	0	2	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:154303339G>A	ENST00000368489.3	+	4	238	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	ATP8B2_ENST00000368487.3_Missense_Mutation_p.V47I|ATP8B2_ENST00000341822.2_Missense_Mutation_p.V66I|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	66					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTCCTGCCTGTCAACCTCTT	0.478																																																	0													117	101	106					1																	154303339		2203	4300	6503	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.238G>A	1.37:g.154303339G>A	ENSP00000357475:p.Val80Ile		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V80I	ENST00000368489.3	37	c.238	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858849	0.51376	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	T;T;T	0.76316	-1.01;-1.01;-1.01	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	T	0.42177	0.1191	N	0.11364	0.135	0.52501	D	0.999957	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.10450	0.003;0.005;0.002	T	0.39143	-0.9628	10	0.16420	T	0.52	.	11.4524	0.50160	0.0812:0.0:0.9188:0.0	.	66;80;47	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	I	47;80;66	ENSP00000357472:V47I;ENSP00000357475:V80I;ENSP00000340448:V66I	ENSP00000340448:V66I	V	+	1	0	ATP8B2	152569963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.451000	0.73481	2.735000	0.93741	0.561000	0.74099	GTC	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000143515		0.478	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	-	0	29	0	G	NM_020452		154303339	1	tier1	-	no_errors	ENST00000368489	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	154303339	G	A	154303339	3	1	24	1	0	0	0	0	1	0	0	0	1196	1377	48	3	252	3	ATP8B2	1	154303339	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	1631915	154303339	94947282	8	6173											
OR6N1	128372	genome.wustl.edu	37	chr1	158735878	158735878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaatttataacaaaatCtactaggacatttatagacg	17	11	7	6	1	1	1	0	0	1	1	1	3	1	3	0	2	2	1	0	2	9	8			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:158735878C>A	ENST00000335094.2	-	1	614	c.595G>T	c.(595-597)Gat>Tat	p.D199Y		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D199Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATAACAAAATCTACTAGGACA	0.483																																																	1	Substitution - Missense(1)	lung(1)											104	110	108					1																	158735878		2203	4300	6503	SO:0001583	missense	0			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.595G>T	1.37:g.158735878C>A	ENSP00000335535:p.Asp199Tyr		Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D199Y	ENST00000335094.2	37	c.595	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373764	0.24857	.	.	ENSG00000197403	ENST00000335094	T	0.00084	8.75	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000191	T	0.00210	0.0006	L	0.42581	1.335	0.40698	D	0.98245	D	0.89917	1.0	D	0.97110	1.0	D	0.93176	0.6570	10	0.52906	T	0.07	-15.5463	16.7399	0.85456	0.0:1.0:0.0:0.0	.	199	Q8NGY5	OR6N1_HUMAN	Y	199	ENSP00000335535:D199Y	ENSP00000335535:D199Y	D	-	1	0	OR6N1	157002502	0.000000	0.05858	1.000000	0.80357	0.951000	0.60555	0.236000	0.17967	2.454000	0.82982	0.655000	0.94253	GAT	OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197403		0.483	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1		0	18	0	C	NM_001005185		158735878	-1			no_errors	ENST00000335094	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A	A	158735878	C	A	158735878	3	1	24	1	0	0	0	0	1	0	0	0	11245	913	32	3	346	3	OR6N1	1	158735878	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	4432539	158735878	90514743	9	6174											
COPA	1314	genome.wustl.edu	37	chr1	160302324	160302324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaactgagcacacatcacaTaatggttgtgccctgttaac	12	10	9	10	0	1	1	1	1	0	0	1	2	1	2	1	2	4	3	1	2	3	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:160302324T>C	ENST00000241704.7	-	6	639	c.410A>G	c.(409-411)tAt>tGt	p.Y137C	COPA_ENST00000368069.3_Missense_Mutation_p.Y137C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	137					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACACATCACATAATGGTTGTG	0.448																																																	0													121	108	112					1																	160302324		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.410A>G	1.37:g.160302324T>C	ENSP00000241704:p.Tyr137Cys		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y137C	ENST00000241704.7	37	c.410	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392425	0.83011	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.60171	0.21;0.21	5.05	5.05	0.67936	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65315	-0.6198	10	0.87932	D	0	-14.285	13.7615	0.62968	0.0:0.0:0.0:1.0	.	137;137	P53621;P53621-2	COPA_HUMAN;.	C	137	ENSP00000357048:Y137C;ENSP00000241704:Y137C	ENSP00000241704:Y137C	Y	-	2	0	COPA	158568948	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.622000	0.83099	2.117000	0.64856	0.459000	0.35465	TAT	COPA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000122218		0.448	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1		0	14	0	T	NM_004371		160302324	-1			no_errors	ENST00000368069	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	C	C	160302324	T	C	160302324	3	2	24	1	0	0	0	0	1	0	0	0	3734	1406	49	4	3403	4	COPA	1	160302324	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	1566446	160302324	88948297	10	6175											
NHLH1	4807	genome.wustl.edu	37	chr1	160340918	160340918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaaccacgtgctggacGtctgaactcagcctgtctcc	8	9	9	15	2	3	2	1	2	2	0	4	3	3	3	4	1	4	1	4	1	2	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:160340918G>A	ENST00000302101.5	+	2	843	c.397G>A	c.(397-399)Gtc>Atc	p.V133I		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	133					cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGTGCTGGACGTCTGAACTCA	0.597																																																	0													72	72	72					1																	160340918		2203	4300	6503	SO:0001583	missense	0			BC013789	CCDS1204.1	1q22	2013-05-21			ENSG00000171786	ENSG00000171786		"Basic helix-loop-helix proteins"	7817	protein-coding gene	gene with protein product		162360		HEN1			Standard	NM_005598		Approved	NSCL, NSCL1, bHLHa35	uc001fwa.2	Q02575	OTTHUMG00000033121	ENST00000302101.5:c.397G>A	1.37:g.160340918G>A	ENSP00000302189:p.Val133Ile			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V133I	ENST00000302101.5	37	c.397	CCDS1204.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887133	0.72410	.	.	ENSG00000171786	ENST00000302101	D	0.95724	-3.79	3.98	3.98	0.46160	Helix-loop-helix DNA-binding (1);	0.000000	0.49305	D	0.000146	T	0.82024	0.4947	N	0.08118	0	0.51767	D	0.999937	P	0.52463	0.953	B	0.34536	0.185	D	0.86031	0.1513	10	0.40728	T	0.16	.	15.1633	0.72801	0.0:0.0:1.0:0.0	.	133	Q02575	HEN1_HUMAN	I	133	ENSP00000302189:V133I	ENSP00000302189:V133I	V	+	1	0	NHLH1	158607542	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.649000	0.83500	2.215000	0.71742	0.655000	0.94253	GTC	NHLH1	-	smart_bHLH_dom	ENSG00000171786		0.597	NHLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLH1	HGNC	protein_coding	OTTHUMT00000080676.1		0	22	0	G	NM_005598		160340918	1			no_errors	ENST00000302101	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	A	A	160340918	G	A	160340918	3	1	24	1	0	0	0	0	1	0	0	0	10442	1145	40	1	399	1	NHLH1	1	160340918	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	38594	160340918	88909703	11	6176											
DUSP27	92235	genome.wustl.edu	37	chr1	167096073	167096073	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggagacagcagcggtGagcccggtgcagaggaggca	10	2	20	9	3	0	3	0	1	0	2	0	6	0	4	1	5	5	3	1	5	0	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:167096073G>T	ENST00000361200.2	+	6	1871	c.1705G>T	c.(1705-1707)Gag>Tag	p.E569*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E569*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E569*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	569					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGCAGCGGTGAGCCCGGTGC	0.557																																																	0													53	55	55					1																	167096073		2203	4300	6503	SO:0001587	stop_gained	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1705G>T	1.37:g.167096073G>T	ENSP00000354483:p.Glu569*		A0AUM4|Q9C074	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E569*	ENST00000361200.2	37	c.1705	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.085175	0.94100	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.05	5.05	0.67936	.	0.680848	0.12955	N	0.425487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9713	14.4354	0.67277	0.0:0.1924:0.8076:0.0	.	.	.	.	X	569	.	ENSP00000271385:E569X	E	+	1	0	DUSP27	165362697	1.000000	0.71417	0.394000	0.26270	0.064000	0.16182	3.434000	0.52841	2.336000	0.79503	0.643000	0.83706	GAG	DUSP27	-	NULL	ENSG00000198842		0.557	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	-	0	19	0	G	NM_001080426		167096073	1	tier1	-	no_errors	ENST00000271385	ensembl	human	known	74_37	nonsense	41.67	14	10	SNP	0.941	T	T	167096073	G	T	167096073	4	4	24	1	0	0	0	0	0	1	0	0	4838	1291	45	3	1723	3	DUSP27	1	167096073	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	6755155	167096073	82154548	12	6177											
CRB1	23418	genome.wustl.edu	37	chr1	197297560	197297560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccttgtagattcctttTgcaataaaaacaacaccagg	14	13	5	9	0	0	1	0	0	0	1	2	1	2	1	3	1	3	2	3	1	6	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:197297560T>C	ENST00000367400.3	+	2	214	c.79T>C	c.(79-81)Tgc>Cgc	p.C27R	CRB1_ENST00000538660.1_Missense_Mutation_p.C27R|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.C27R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	27			C -> F (in RP12). {ECO:0000269|PubMed:19956407}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGATTCCTTTTGCAATAAAAA	0.323																																																	0													38	39	38					1																	197297560		2198	4299	6497	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.79T>C	1.37:g.197297560T>C	ENSP00000356370:p.Cys27Arg		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C27R	ENST00000367400.3	37	c.79	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269556	0.59540	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.92911	-3.13;-1.72;-2.34	5.52	4.38	0.52667	.	.	.	.	.	D	0.94886	0.8347	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.94666	0.7852	9	0.87932	D	0	.	11.7671	0.51937	0.0:0.0:0.147:0.853	.	27;27;27;52	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	R	27	ENSP00000438091:C27R;ENSP00000356370:C27R;ENSP00000356369:C27R	ENSP00000356369:C27R	C	+	1	0	CRB1	195564183	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.497000	0.45354	1.004000	0.39156	0.533000	0.62120	TGC	CRB1	-	NULL	ENSG00000134376		0.323	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	27	0	T	NM_201253		197297560	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	53.66	19	22	SNP	0.999	C	C	197297560	T	C	197297560	3	2	24	1	0	0	0	0	1	0	0	0	3855	1812	63	4	85	4	CRB1	1	197297560	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	30201487	197297560	51953061	13	6178											
KIF14	9928	genome.wustl.edu	37	chr1	200572411	200572411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctttggtttgcttgttccGaaagtgcagatataactttt	8	18	8	7	1	0	1	0	0	0	1	2	2	2	1	2	1	3	4	2	1	3	8	rs142004534		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:200572411G>A	ENST00000367350.4	-	10	2360	c.1922C>T	c.(1921-1923)tCg>tTg	p.S641L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	641	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.S641L(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGCTTGTTCCGAAAGTGCAGA	0.303																																																	1	Substitution - Missense(1)	lung(1)						G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	97	100	99		1922	5.6	0.2	1	dbSNP_134	99	1,8595	1.2+/-3.3	0,1,4297	no	missense	KIF14	NM_014875.2	145	0,3,6498	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	641/1649	200572411	3,12999	2203	4298	6501	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1922C>T	1.37:g.200572411G>A	ENSP00000356319:p.Ser641Leu		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S641L	ENST00000367350.4	37	c.1922	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.142914	0.94560	4.54E-4	1.16E-4	ENSG00000118193	ENST00000367350	T	0.75589	-0.95	5.56	5.56	0.83823	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.88033	0.2776	10	0.87932	D	0	.	19.5216	0.95187	0.0:0.0:1.0:0.0	.	641	Q15058	KIF14_HUMAN	L	641	ENSP00000356319:S641L	ENSP00000356319:S641L	S	-	2	0	KIF14	198839034	1.000000	0.71417	0.176000	0.23000	0.976000	0.68499	9.444000	0.97578	2.602000	0.87976	0.591000	0.81541	TCG	KIF14	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000118193		0.303	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1		0	27	0	G	NM_014875		200572411	-1			no_errors	ENST00000367350	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.998	A	A	200572411	G	A	200572411	3	1	24	1	0	0	0	0	1	0	0	0	8303	1059	37	1	3108	1	KIF14	1	200572411	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	3274851	200572411	48678210	14	6179											
MAPKAPK2	9261	genome.wustl.edu	37	chr1	206858691	206858691	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcagccgccgccgccgccCccgcagcagttcccgcagtt	4	4	12	21	7	0	0	0	0	0	0	1	0	1	0	7	0	2	6	7	0	0	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:206858691C>G	ENST00000367103.3	+	1	310	c.117C>G	c.(115-117)ccC>ccG	p.P39P	MAPKAPK2_ENST00000294981.4_Silent_p.P39P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	39	Poly-Pro.|Pro-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			cgccgccgcccccgcagcagt	0.741																																																	0													13	14	13					1																	206858691		2203	4298	6501	SO:0001819	synonymous_variant	0			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.117C>G	1.37:g.206858691C>G			Q5SY30|Q5SY41|Q8IYD6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P39	ENST00000367103.3	37	c.117	CCDS31001.1	1																																																																																			MAPKAPK2	-	NULL	ENSG00000162889		0.741	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1		0	10	0	C	NM_004759		206858691	1			no_errors	ENST00000367103	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.954	G	G	206858691	C	G	206858691	2	3	24	1	0	0	0	0	0	0	0	1	9327	610	22	5		5	MAPKAPK2	1	206858691	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	6286280	206858691	42391930	15	6180											
PLXNA2	5362	genome.wustl.edu	37	chr1	208225788	208225788	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggacctcggattgggttGagtgacagcacagaagggtt	9	9	16	7	2	0	3	0	2	0	1	2	5	0	5	1	4	1	3	1	4	1	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:208225788G>T	ENST00000367033.3	-	15	3634	c.2877C>A	c.(2875-2877)ctC>ctA	p.L959L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	959	IPT/TIG 2.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGATTGGGTTGAGTGACAGCA	0.522																																																	0													76	70	72					1																	208225788		2203	4300	6503	SO:0001819	synonymous_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2877C>A	1.37:g.208225788G>T			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L959	ENST00000367033.3	37	c.2877	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000076356		0.522	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	38	0	G	NM_025179		208225788	-1			no_errors	ENST00000367033	ensembl	human	known	74_37	silent	7.50	37	3	SNP	1.000	T	T	208225788	G	T	208225788	2	4	24	1	0	0	0	0	0	0	0	1	12159	1277	45	3		3	PLXNA2	1	208225788	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	1367097	208225788	41024833	16	6181											
MIA3	375056	genome.wustl.edu	37	chr1	222826634	222826634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgaatctgagggtcaaaAtaaaggtggaaatgattcag	16	10	11	4	0	4	3	2	3	2	0	4	4	4	4	0	3	0	0	0	3	6	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:222826634A>G	ENST00000344922.5	+	15	4299	c.4274A>G	c.(4273-4275)aAt>aGt	p.N1425S	MIA3_ENST00000340535.7_Missense_Mutation_p.N303S|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.N1425S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1425					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGGGTCAAAATAAAGGTGGA	0.408																																																	0													133	126	128					1																	222826634		1867	4103	5970	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4274A>G	1.37:g.222826634A>G	ENSP00000340900:p.Asn1425Ser		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.N1425S	ENST00000344922.5	37	c.4274	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	A	9.666	1.145349	0.21288	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	T;T;T	0.37584	1.19;1.19;1.3	5.66	0.365	0.16131	.	.	.	.	.	T	0.19087	0.0458	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24132	0.063;0.001;0.098	B;B;B	0.18263	0.013;0.006;0.021	T	0.26538	-1.0100	9	0.19590	T	0.45	.	6.4825	0.22071	0.5035:0.1292:0.3673:0.0	.	1366;303;1425	Q5JRA6-2;Q5JRA6-4;Q5JRA6	.;.;MIA3_HUMAN	S	1425;1425;1366;303;303	ENSP00000340900:N1425S;ENSP00000340587:N1425S;ENSP00000345866:N303S	ENSP00000284471:N303S	N	+	2	0	MIA3	220893257	0.062000	0.20869	0.003000	0.11579	0.831000	0.47069	0.455000	0.21843	-0.190000	0.10465	-0.429000	0.05907	AAT	MIA3	-	NULL	ENSG00000154305		0.408	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0	30	0	A	NM_198551		222826634	1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.003	G	G	222826634	A	G	222826634	3	3	24	1	0	0	0	0	1	0	0	0	9603	101	4	4	4332	4	MIA3	1	222826634	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	14600846	222826634	26423987	17	6182											
EXOC8	149371	genome.wustl.edu	37	chr1	231471716	231471716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaccccacaacttttcatCtcttctttgagcttacccag	8	15	3	15	0	3	1	1	1	2	0	4	1	3	1	3	0	4	1	3	0	3	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:231471716C>T	ENST00000360394.2	-	1	1862	c.1776G>A	c.(1774-1776)gaG>gaA	p.E592E	EXOC8_ENST00000366645.1_Silent_p.E588E|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	592					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AACTTTTCATCTCTTCTTTGA	0.458																																																	0													123	120	121					1																	231471716		2203	4300	6503	SO:0001819	synonymous_variant	0			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1776G>A	1.37:g.231471716C>T			B3KU33|Q5TE82	Silent	SNP	superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E592	ENST00000360394.2	37	c.1776	CCDS1593.1	1																																																																																			EXOC8	-	NULL	ENSG00000116903		0.458	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding			0	32	0	C	NM_175876		231471716	-1			no_errors	ENST00000360394	ensembl	human	known	74_37	silent	12.50	21	3	SNP	1.000	T	T	231471716	C	T	231471716	2	4	24	1	0	0	0	0	0	0	0	1	5327	912	32	3		3	EXOC8	1	231471716	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	8645082	231471716	17778905	18	6183											
TSNAX	7257	genome.wustl.edu	37	chr1	231700352	231700352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgattaccttctgggagtgGctgacttaactggagaattg	9	13	12	7	1	1	2	0	1	1	1	2	5	1	3	1	3	2	1	1	3	3	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:231700352G>A	ENST00000366639.4	+	6	732	c.574G>A	c.(574-576)Gct>Act	p.A192T	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	192	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TCTGGGAGTGGCTGACTTAAC	0.448																																																	0													205	201	203					1																	231700352		2203	4300	6503	SO:0001583	missense	0			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.574G>A	1.37:g.231700352G>A	ENSP00000355599:p.Ala192Thr		B1APC6	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.A192T	ENST00000366639.4	37	c.574	CCDS1596.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.613496	0.96637	.	.	ENSG00000116918	ENST00000366639	.	.	.	5.77	5.77	0.91146	Translin, C-terminal (1);	0.045912	0.85682	D	0.000000	T	0.78635	0.4314	M	0.76838	2.35	0.80722	D	1	D	0.62365	0.991	D	0.64877	0.93	T	0.72561	-0.4256	9	0.21014	T	0.42	.	20.3485	0.98803	0.0:0.0:1.0:0.0	.	192	Q99598	TSNAX_HUMAN	T	192	.	ENSP00000355599:A192T	A	+	1	0	TSNAX	229766975	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.316000	0.96319	2.885000	0.99019	0.650000	0.86243	GCT	TSNAX	-	pfam_Translin,superfamily_Translin	ENSG00000116918		0.448	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	HGNC	protein_coding	OTTHUMT00000095267.2	-	0	60	0	G	NM_005999		231700352	1	tier1	-	no_errors	ENST00000366639	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	231700352	G	A	231700352	3	1	24	1	0	0	0	0	1	0	0	0	16679	1203	42	3	596	3	TSNAX	1	231700352	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	228636	231700352	17550269	19	6184											
OR2M2	391194	genome.wustl.edu	37	chr1	248343907	248343907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctgctgtatagtaatgcTtgttttccctgttgcaatca	8	17	7	9	0	2	0	1	0	1	0	3	0	3	0	1	0	3	7	1	0	4	7	rs535058818	byFrequency	TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr1:248343907T>C	ENST00000359682.2	+	1	620	c.620T>C	c.(619-621)cTt>cCt	p.L207P		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATAGTAATGCTTGTTTTCCCT	0.423																																																	0													241	227	231					1																	248343907		2203	4300	6503	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.620T>C	1.37:g.248343907T>C	ENSP00000352710:p.Leu207Pro		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L207P	ENST00000359682.2	37	c.620	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	t	9.594	1.126993	0.20959	.	.	ENSG00000198601	ENST00000359682	T	0.39229	1.09	1.88	1.88	0.25563	GPCR, rhodopsin-like superfamily (1);	0.299145	0.17967	U	0.155965	T	0.64875	0.2638	M	0.92833	3.35	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54166	-0.8334	10	0.87932	D	0	.	3.5412	0.07812	0.0:0.1474:0.2313:0.6213	.	207	Q96R28	OR2M2_HUMAN	P	207	ENSP00000352710:L207P	ENSP00000352710:L207P	L	+	2	0	OR2M2	246410530	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	0.730000	0.26043	0.873000	0.35799	0.373000	0.22412	CTT	OR2M2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198601		0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0	100	0	T	NM_001004688		248343907	1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	6.00	94	6	SNP	0.000	C	C	248343907	T	C	248343907	3	2	24	1	0	0	0	0	1	0	0	0	11049	1609	56	4	622	4	OR2M2	1	248343907	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	16643555	248343907	906714	20	6185											
SLC5A6	8884	genome.wustl.edu	37	chr2	27427736	27427737	+	Frame_Shift_Ins	INS	-	-	A																															ccccgtataaggagagcatcINSatgaagacacccccgaaggc																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:27427736_27427737insA	ENST00000310574.3	-	8	1270_1271	c.797_798insT	c.(796-798)atgfs	p.M266fs	SLC5A6_ENST00000408041.1_Frame_Shift_Ins_p.M266fs|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	266					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGGAGAGCATCATGAAGACACC	0.584																																																	0																																										SO:0001589	frameshift_variant	0			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.798dupT	2.37:g.27427737_27427737dupA	ENSP00000310208:p.Met266fs		B2RB85|D6W549|Q969Y5	Frame_Shift_Ins	INS	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.M266fs	ENST00000310574.3	37	c.798_797	CCDS1740.1	2																																																																																			SLC5A6	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000138074		0.584	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1		0	27	0	-	NM_021095		27427737	-1	tier1		no_errors	ENST00000310574	ensembl	human	known	74_37	frame_shift_ins	12.00	22	3	INS	1.000:1.000	A	A	27427737	-	A	27427736	7	5	24	1	0	1	1	0	0	0	0	0	14714	826	29	0	1149	0	SLC5A6	2	27427736	Frame_Shift_Ins	INS	-	TCGA-IG-A50L-01A-11D-A27G-09		27427736	215771637	21	6186											
CCDC88A	55704	genome.wustl.edu	37	chr2	55566671	55566671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccttctacagaatccaCagtagtccgaagctcttcta	11	12	6	12	1	3	1	0	0	3	1	5	2	5	1	3	0	3	2	3	0	5	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:55566671C>T	ENST00000436346.1	-	13	2288	c.1447G>A	c.(1447-1449)Gtg>Atg	p.V483M	CCDC88A_ENST00000263630.8_Missense_Mutation_p.V483M|CCDC88A_ENST00000413716.2_Missense_Mutation_p.V483M|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.V483M|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	483					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACAGAATCCACAGTAGTCCGA	0.353																																																	0													100	97	98					2																	55566671		2203	4300	6503	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1447G>A	2.37:g.55566671C>T	ENSP00000410608:p.Val483Met		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.V483M	ENST00000436346.1	37	c.1447		2	.	.	.	.	.	.	.	.	.	.	C	9.860	1.196094	0.22037	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.14	-2.49	0.06403	.	0.646248	0.13673	N	0.370775	T	0.09862	0.0242	N	0.19112	0.55	0.29575	N	0.849572	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.14023	0.01;0.001;0.001	T	0.28870	-1.0030	10	0.26408	T	0.33	0.0651	12.0214	0.53346	0.0:0.529:0.0:0.471	.	483;483;483	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	M	483	ENSP00000338728:V483M;ENSP00000263630:V483M;ENSP00000410608:V483M;ENSP00000404431:V483M	ENSP00000263630:V483M	V	-	1	0	CCDC88A	55420175	0.025000	0.19082	0.598000	0.28837	0.888000	0.51559	-0.554000	0.06006	-0.290000	0.09025	-0.438000	0.05819	GTG	CCDC88A	-	pfam_Hook-related_fam,superfamily_t-SNARE	ENSG00000115355		0.353	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0	87	0	C	NM_017571		55566671	-1	tier1	-	no_errors	ENST00000436346	ensembl	human	known	74_37	missense	6.56	56	4	SNP	0.383	T	T	55566671	C	T	55566671	3	4	24	1	0	0	0	0	1	0	0	0	2870	478	17	3	4248	3	CCDC88A	2	55566671	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	28138935	55566671	187632702	22	6187											
KIAA1841	84542	genome.wustl.edu	37	chr2	61361295	61361295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaactgagacccagagaCggcactgtgtctaagagcaa	15	5	11	10	1	1	3	0	1	1	3	1	6	1	3	1	1	2	2	1	1	3	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:61361295C>A	ENST00000295031.5	+	21	2429	c.2052C>A	c.(2050-2052)gaC>gaA	p.D684E		NM_032506.2	NP_115895.2	Q6NSI8	K1841_HUMAN	KIAA1841	0								p.D684D(1)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			gacccagagacggcactgtgt	0.403																																																	1	Substitution - coding silent(1)	large_intestine(1)											152	139	144					2																	61361295		2203	4300	6503	SO:0001583	missense	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000295031.5:c.2052C>A	2.37:g.61361295C>A	ENSP00000295031:p.Asp684Glu		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.D684E	ENST00000295031.5	37	c.2052	CCDS1867.1	2	.	.	.	.	.	.	.	.	.	.	C	0.082	-1.181482	0.01633	.	.	ENSG00000162929	ENST00000295031	.	.	.	2.12	0.921	0.19403	.	2.720490	0.02360	N	0.076817	T	0.17534	0.0421	.	.	.	0.18873	N	0.999987	B	0.18166	0.026	B	0.15870	0.014	T	0.15896	-1.0421	8	0.09843	T	0.71	.	3.873	0.09044	0.0:0.193:0.0:0.807	.	684	Q6NSI8-2	.	E	684	.	ENSP00000295031:D684E	D	+	3	2	KIAA1841	61214799	0.458000	0.25760	0.199000	0.23439	0.286000	0.27126	-0.376000	0.07465	0.278000	0.22164	-0.752000	0.03492	GAC	KIAA1841	-	NULL	ENSG00000162929		0.403	KIAA1841-001	KNOWN	basic|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000251580.1	-	0	79	0	C	NM_032506		61361295	1	tier1	-	no_errors	ENST00000295031	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.203	A	A	61361295	C	A	61361295	3	1	24	1	0	0	0	0	1	0	0	0	8288	535	19	2	2263	2	KIAA1841	2	61361295	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	5794624	61361295	181838078	23	6188											
SCN2A	6326	genome.wustl.edu	37	chr2	166245183	166245183	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagtattttgtgtcccctAccctgttccgagtgatccgt	8	14	8	11	2	0	1	0	1	0	0	3	2	3	1	5	0	1	2	5	0	4	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:166245183A>T	ENST00000375437.2	+	27	5157	c.4867A>T	c.(4867-4869)Acc>Tcc	p.T1623S	SCN2A_ENST00000375427.2_Missense_Mutation_p.T1623S|SCN2A_ENST00000357398.3_Missense_Mutation_p.T1623S|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1623S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1623			T -> N (in EIEE11; the disease progresses to West syndrome). {ECO:0000269|PubMed:23935176}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGTCCCCTACCCTGTTCCG	0.413																																																	0													104	105	105					2																	166245183		2203	4300	6503	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4867A>T	2.37:g.166245183A>T	ENSP00000364586:p.Thr1623Ser		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.T1623S	ENST00000375437.2	37	c.4867	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851097	0.51270	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.64402	D	0.000001	D	0.96411	0.8829	L	0.46819	1.47	0.58432	D	0.999998	P;B	0.48640	0.913;0.136	P;B	0.49528	0.614;0.173	D	0.96986	0.9718	10	0.87932	D	0	.	15.9354	0.79698	1.0:0.0:0.0:0.0	.	1623;1623	Q99250-2;Q99250	.;SCN2A_HUMAN	S	1623	ENSP00000364586:T1623S;ENSP00000349973:T1623S;ENSP00000283256:T1623S;ENSP00000364576:T1623S	ENSP00000283256:T1623S	T	+	1	0	SCN2A	165953429	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	9.316000	0.96319	2.220000	0.72140	0.451000	0.29950	ACC	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	85	0	A	NM_021007		166245183	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	20.43	74	19	SNP	1.000	T	T	166245183	A	T	166245183	3	4	24	1	0	0	0	0	1	0	0	0	13961	391	14	5	5065	5	SCN2A	2	166245183	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	104883888	166245183	76954190	24	6189											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098809	178098809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagaaattcacctgtcTcttcatctagttgtaactga	10	15	8	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:178098809T>C	ENST00000397062.3	-	2	790	c.236A>G	c.(235-237)gAg>gGg	p.E79G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79G(1)|p.E79_T80insE(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTCACCTGTCTCTTCATCTAG	0.438			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	2	Insertion - In frame(1)|Substitution - Missense(1)	upper_aerodigestive_tract(1)|oesophagus(1)											146	145	145					2																	178098809		1902	4109	6011	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.236A>G	2.37:g.178098809T>C	ENSP00000380252:p.Glu79Gly		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79G	ENST00000397062.3	37	c.236	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468923	0.63625	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.994;0.998;0.997	T	0.69461	-0.5139	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	63;79;63;63;63;63;63	ENSP00000380253:E63G;ENSP00000380252:E79G;ENSP00000411575:E63G;ENSP00000391590:E63G;ENSP00000400073:E63G;ENSP00000412191:E63G;ENSP00000410015:E63G	ENSP00000380252:E79G	E	-	2	0	NFE2L2	177807055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAG	NFE2L2	-	NULL	ENSG00000116044		0.438	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	107	0	T	NM_006164		178098809	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	38.61	62	39	SNP	1.000	C	C	178098809	T	C	178098809	3	2	24	1	0	0	0	0	1	0	0	0	10407	1551	54	4	1597	4	NFE2L2	2	178098809	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	11853626	178098809	65100564	25	6190											
TTN	7273	genome.wustl.edu	37	chr2	179433512	179433512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattggaactgcaagggaccGaggatcacttctcccctttt	9	12	9	11	1	2	0	1	0	1	0	3	4	2	3	3	3	2	1	3	3	3	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:179433512G>A	ENST00000591111.1	-	276	72648	c.72424C>T	c.(72424-72426)Cgg>Tgg	p.R24142W	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16910W|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16843W|TTN_ENST00000460472.2_Missense_Mutation_p.R16718W|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25783W|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23215W|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24142	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGGGACCGAGGATCACTT	0.413																																																	0													83	80	81					2																	179433512		1891	4099	5990	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72424C>T	2.37:g.179433512G>A	ENSP00000465570:p.Arg24142Trp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R23215W	ENST00000591111.1	37	c.69643		2	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884161	0.17467	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.84	2.02	0.26589	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72391	0.3454	M	0.86343	2.81	0.44825	D	0.997832	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.954;0.954;0.982	T	0.72906	-0.4150	9	0.87932	D	0	.	10.3216	0.43769	0.0:0.0654:0.5249:0.4097	.	16718;16843;16910;24142	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	23215;16718;16910;16843;16716	ENSP00000343764:R23215W;ENSP00000434586:R16718W;ENSP00000340554:R16910W;ENSP00000352154:R16843W	ENSP00000340554:R16910W	R	-	1	2	TTN	179141758	0.982000	0.34865	0.950000	0.38849	0.910000	0.53928	1.114000	0.31196	0.087000	0.17167	-0.274000	0.10170	CGG	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	24	0	G	NM_133378		179433512	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.935	A	A	179433512	G	A	179433512	3	1	24	1	0	0	0	0	1	0	0	0	16784	1057	37	1	30780	1	TTN	2	179433512	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	1334703	179433512	63765861	26	6191											
RFTN2	130132	genome.wustl.edu	37	chr2	198508925	198508925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatttgtttgtgcctcaGaagttaggggacattcctca	8	14	10	9	1	3	1	3	0	0	1	4	2	4	2	2	2	1	2	2	2	2	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:198508925G>T	ENST00000295049.4	-	3	931	c.395C>A	c.(394-396)tCt>tAt	p.S132Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	132					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TTGTGCCTCAGAAGTTAGGGG	0.413																																																	0													185	174	178					2																	198508925		2203	4300	6503	SO:0001583	missense	0			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 11"	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.395C>A	2.37:g.198508925G>T	ENSP00000295049:p.Ser132Tyr		Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	NULL	p.S132Y	ENST00000295049.4	37	c.395	CCDS2323.1	2	.	.	.	.	.	.	.	.	.	.	G	3.153	-0.173819	0.06421	.	.	ENSG00000162944	ENST00000295049	T	0.29917	1.55	5.39	0.491	0.16867	.	0.552403	0.19492	N	0.112976	T	0.06781	0.0173	N	0.00538	-1.39	0.23445	N	0.99767	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.36615	T	0.2	-1.619	2.0387	0.03545	0.131:0.1279:0.147:0.594	.	132	Q52LD8	RFTN2_HUMAN	Y	132	ENSP00000295049:S132Y	ENSP00000295049:S132Y	S	-	2	0	RFTN2	198217170	0.045000	0.20229	0.880000	0.34516	0.985000	0.73830	0.094000	0.15107	-0.054000	0.13266	-0.271000	0.10264	TCT	RFTN2	-	NULL	ENSG00000162944		0.413	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFTN2	HGNC	protein_coding	OTTHUMT00000256106.2	-	0	78	0	G	NM_144629		198508925	-1	tier1	-	no_errors	ENST00000295049	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.981	T	T	198508925	G	T	198508925	3	4	24	1	0	0	0	0	1	0	0	0	13304	942	33	3	1138	3	RFTN2	2	198508925	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	19075413	198508925	44690448	27	6192											
PLEKHM3	389072	genome.wustl.edu	37	chr2	208841726	208841726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagctcaacagtggatcctCgtctagcttgccaggctgaa	9	10	11	11	1	2	1	1	1	1	0	4	2	3	2	2	2	4	4	2	2	4	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:208841726C>T	ENST00000427836.2	-	3	1684	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.E399K|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E399K	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	399	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.E399K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGTGGATCCTCGTCTAGCTTG	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)											58	61	60					2																	208841726		2026	4186	6212	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1195G>A	2.37:g.208841726C>T	ENSP00000417003:p.Glu399Lys		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E399K	ENST00000427836.2	37	c.1195	CCDS42808.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.16|12.16	1.856078|1.856078	0.32791|0.32791	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	T;T;T|.	0.10477|.	2.87;2.87;2.87|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.294052|.	0.38005|.	N|.	0.001853|.	T|T	0.56891|0.56891	0.2016|0.2016	N|N	0.22421|0.22421	0.69|0.69	0.51767|0.51767	D|D	0.99993|0.99993	D;P|.	0.53151|.	0.958;0.873|.	B;B|.	0.43990|.	0.438;0.355|.	T|T	0.49234|0.49234	-0.8961|-0.8961	10|5	0.07482|.	T|.	0.82|.	.|.	20.0991|20.0991	0.97865|0.97865	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	399;399|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	K|Q	399|150	ENSP00000417003:E399K;ENSP00000373899:E399K;ENSP00000400150:E399K|.	ENSP00000373899:E399K|.	E|R	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208549971|208549971	0.979000|0.979000	0.34478|0.34478	0.975000|0.975000	0.42487|0.42487	0.388000|0.388000	0.30384|0.30384	2.275000|2.275000	0.43399|0.43399	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|CGA	PLEKHM3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000178385		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1		0	18	0	C	NM_001080475		208841726	-1			no_errors	ENST00000427836	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.997	T	T	208841726	C	T	208841726	3	4	24	1	0	0	0	0	1	0	0	0	12121	893	31	1	1114	1	PLEKHM3	2	208841726	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	10332801	208841726	34357647	28	6193											
PTH2R	5746	genome.wustl.edu	37	chr2	209345854	209345854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccaaaatctgggagacCaatgcagttgggcatgacac	13	7	11	10	0	1	2	0	1	1	1	1	3	1	2	2	2	2	4	2	2	4	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:209345854C>T	ENST00000272847.2	+	10	1254	c.1041C>T	c.(1039-1041)acC>acT	p.T347T	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	347					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCTGGGAGACCAATGCAGTTG	0.348																																																	0													99	97	98					2																	209345854		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1041C>T	2.37:g.209345854C>T			Q8N429	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T347	ENST00000272847.2	37	c.1041	CCDS2383.1	2																																																																																			PTH2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000144407		0.348	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2	-	0	53	0	C	NM_005048		209345854	1	tier1	-	no_errors	ENST00000272847	ensembl	human	known	74_37	silent	20.45	35	9	SNP	1.000	T	T	209345854	C	T	209345854	2	4	24	1	0	0	0	0	0	0	0	1	12803	581	21	3		3	PTH2R	2	209345854	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	504128	209345854	33853519	29	6194											
KIAA1486	57624	genome.wustl.edu	37	chr2	226516200	226516200	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgacgtcaggtgtgccTcctccatcagtcactcccct	5	10	9	17	3	3	0	3	0	0	0	7	1	6	0	5	1	1	0	5	1	0	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:226516200T>A	ENST00000272907.6	+	6	2294	c.1881T>A	c.(1879-1881)ccT>ccA	p.P627P		NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	627					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CAGGTGTGCCTCCTCCATCAG	0.498																																																	0													208	211	210					2																	226516200		2138	4250	6388	SO:0001819	synonymous_variant	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1881T>A	2.37:g.226516200T>A			A2RRN4|Q96NL2	Silent	SNP	NULL	p.P627	ENST00000272907.6	37	c.1881	CCDS46529.1	2																																																																																			NYAP2	-	NULL	ENSG00000144460		0.498	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0	50	0	T	NM_020864		226516200	1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	17.54	47	10	SNP	1.000	A	A	226516200	T	A	226516200	2	1	24	1	0	0	0	0	0	0	0	1	8264	1538	54	5		5	KIAA1486	2	226516200	Silent	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	17170346	226516200	16683173	30	6195											
DIS3L2	129563	genome.wustl.edu	37	chr2	233113982	233113982	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcccaggctgctgtgtgagGagctgtgcagcctcaacccc	6	9	12	14	0	1	1	1	1	0	0	2	2	2	2	4	2	5	4	4	2	1	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:233113982G>T	ENST00000409307.1	+	11	1351	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*	DIS3L2_ENST00000273009.6_Nonsense_Mutation_p.E451*|DIS3L2_ENST00000325385.7_Nonsense_Mutation_p.E451*					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GCTGTGTGAGGAGCTGTGCAG	0.547																																																	0													80	89	86					2																	233113982		2192	4284	6476	SO:0001587	stop_gained	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.1351G>T	2.37:g.233113982G>T	ENSP00000386799:p.Glu451*			Nonsense_Mutation	SNP	NULL	p.E451*	ENST00000409307.1	37	c.1351	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.640085	0.98406	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000431466;ENST00000409307;ENST00000424049	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.2862	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	X	451;451;451;451;451;86	.	ENSP00000273009:E451X	E	+	1	0	DIS3L2	232822226	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.164000	0.94755	2.744000	0.94065	0.655000	0.94253	GAG	DIS3L2	-	NULL	ENSG00000144535		0.547	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1		0	23	0	G	NM_152383		233113982	1			no_errors	ENST00000325385	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T	T	233113982	G	T	233113982	4	4	24	1	0	0	0	0	0	1	0	0	4551	1175	41	3	1393	3	DIS3L2	2	233113982	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	6597782	233113982	10085391	31	6196											
KIF1A	547	genome.wustl.edu	37	chr2	241724476	241724476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatgttgaagacggcgtggGagcgactgctggtctcattc	7	11	15	8	3	1	3	1	2	1	1	3	5	1	4	0	3	2	2	0	3	1	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr2:241724476G>A	ENST00000320389.7	-	7	808	c.650C>T	c.(649-651)tCc>tTc	p.S217F	KIF1A_ENST00000498729.2_Missense_Mutation_p.S217F	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	217	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACGGCGTGGGAGCGACTGCT	0.612																																																	0													235	247	243					2																	241724476		2202	4300	6502	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.650C>T	2.37:g.241724476G>A	ENSP00000322791:p.Ser217Phe		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S217F	ENST00000320389.7	37	c.650	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688472	0.88639	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.88124	-2.34;-2.34;-2.34	4.14	4.14	0.48551	Kinesin, motor domain (5);	0.000000	0.85682	U	0.000000	D	0.96870	0.8978	H	0.99842	4.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.97;0.999	D	0.99466	1.0944	10	0.87932	D	0	.	16.7934	0.85595	0.0:0.0:1.0:0.0	.	217;217;217	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	F	217	ENSP00000322791:S217F;ENSP00000438388:S217F;ENSP00000384231:S217F	ENSP00000322791:S217F	S	-	2	0	KIF1A	241373149	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.441000	0.97557	2.026000	0.59711	0.563000	0.77884	TCC	KIF1A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000130294		0.612	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0	41	0	G	NM_138483		241724476	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	49.21	32	31	SNP	1.000	A	A	241724476	G	A	241724476	3	1	24	1	0	0	0	0	1	0	0	0	8310	1174	41	3	4586	3	KIF1A	2	241724476	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	8610494	241724476	1474897	32	6197											
TMEM111	55831	genome.wustl.edu	37	chr3	10016090	10016091	+	Frame_Shift_Ins	INS	-	-	A																															tgacaaagcctgagaatgtcINSatgttgatccatccaccaat																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr3:10016090_10016091insA	ENST00000245046.2	-	4	847_848	c.389_390insT	c.(388-390)atgfs	p.M130fs	EMC3_ENST00000429759.1_Frame_Shift_Ins_p.M168fs|EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	130						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTGAGAATGTCATGTTGATCCA	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.390dupT	3.37:g.10016091_10016091dupA	ENSP00000245046:p.Met130fs		B2R4Z9|Q53GH8|Q6ZMC2	Frame_Shift_Ins	INS	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.M130fs	ENST00000245046.2	37	c.390_389	CCDS2594.1	3																																																																																			EMC3	-	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	ENSG00000125037		0.411	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1		0	53	0	-	NM_018447		10016091	-1	tier1		no_errors	ENST00000245046	ensembl	human	known	74_37	frame_shift_ins	40.82	29	20	INS	1.000:1.000	A	A	10016091	-	A	10016090	7	5	24	1	0	1	1	0	0	0	0	0	16075	826	29	0	415	0	TMEM111	3	10016090	Frame_Shift_Ins	INS	-	TCGA-IG-A50L-01A-11D-A27G-09		10016090	188006340	33	6198											
GRIP2	80852	genome.wustl.edu	37	chr3	14547144	14547146	+	RNA	DEL	TCC	TCC	-																															tcgttggcggctcccaatcaTcctcctcctcctcctctgga																								rs374133419	byFrequency	TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr3:14547144_14547146delTCC	ENST00000273083.3	-	0	2614_2616							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTCCCAATCATCCTCCTCCTCCT	0.66																																																	0																																												0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14547153_14547155delTCC			Q8TEH9|Q9H7H3	RNA	DEL	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.66	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2		0	47	0	TCC	NM_001080423		14547146	-1	tier1		no_errors	ENST00000273083	ensembl	human	known	74_37	rna	11.11	32	4	DEL	0.866:0.967:0.974	-	-	14547146	TCC	-	14547144	6	5	24	0	1	1	0	1	0	0	0	0	6815	1435	50	0		0	GRIP2	3	14547144	RNA	DEL	TCC	TCGA-IG-A50L-01A-11D-A27G-09	4531054	14547144	183475286	34	6199											
ALS2CL	259173	genome.wustl.edu	37	chr3	46721933	46721933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccaccgtcttgtccGcctggaaggtgccctggtag	6	9	11	15	2	2	0	1	0	1	0	3	1	3	1	5	3	1	1	5	3	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr3:46721933G>A	ENST00000318962.4	-	14	1618	c.1535C>T	c.(1534-1536)gCg>gTg	p.A512V	ALS2CL_ENST00000415953.1_Missense_Mutation_p.A512V	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	512					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGTCTTGTCCGCCTGGAAGGT	0.637																																																	0													111	105	107					3																	46721933		2203	4300	6503	SO:0001583	missense	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1535C>T	3.37:g.46721933G>A	ENSP00000313670:p.Ala512Val		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.A512V	ENST00000318962.4	37	c.1535	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563037	0.27915	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.45276	0.9;0.9	4.77	2.94	0.34122	.	0.433255	0.21595	N	0.072025	T	0.38852	0.1056	M	0.72118	2.19	0.19575	N	0.999966	P	0.45078	0.85	B	0.41374	0.355	T	0.20207	-1.0282	10	0.27785	T	0.31	.	7.686	0.28540	0.0942:0.1736:0.7321:0.0	.	512	Q60I27	AL2CL_HUMAN	V	512	ENSP00000313670:A512V;ENSP00000413223:A512V	ENSP00000313670:A512V	A	-	2	0	ALS2CL	46696937	0.083000	0.21467	0.431000	0.26735	0.113000	0.19764	1.701000	0.37825	0.586000	0.29626	0.462000	0.41574	GCG	ALS2CL	-	pfam_MORN,smart_MORN	ENSG00000178038		0.637	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	-	0	49	0	G	NM_147129		46721933	-1	tier1	-	no_errors	ENST00000318962	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.064	A	A	46721933	G	A	46721933	3	1	24	1	0	0	0	0	1	0	0	0	551	1087	38	1	1378	1	ALS2CL	3	46721933	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	32174789	46721933	151300497	35	6200											
PBRM1	55193	genome.wustl.edu	37	chr3	52651532	52651532	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgaataagattttcattcGctgctttcttatgttctttt	8	22	5	6	1	3	2	1	1	2	1	4	2	3	2	0	0	1	3	0	0	3	10			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr3:52651532G>A	ENST00000296302.7	-	14	1565	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R537*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R490*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R537*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R522*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R522*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R522*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R522*			Q86U86	PB1_HUMAN	polybromo 1	522					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATTTTCATTCGCTGCTTTCTT	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													68	67	68					3																	52651532		2203	4300	6503	SO:0001587	stop_gained	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1564C>T	3.37:g.52651532G>A	ENSP00000296302:p.Arg522*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.R522*	ENST00000296302.7	37	c.1564		3	.	.	.	.	.	.	.	.	.	.	G	37	6.471896	0.97594	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.0556	13.5687	0.61834	0.0:0.0:0.6745:0.3255	.	.	.	.	X	490;522;522;522;522;522;537;537;522;481	.	ENSP00000296302:R522X	R	-	1	2	PBRM1	52626572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.152000	0.50677	2.764000	0.94973	0.655000	0.94253	CGA	PBRM1	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000163939		0.363	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0	9	0	G	NM_018165		52651532	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	nonsense	71.43	2	5	SNP	1.000	A	A	52651532	G	A	52651532	4	1	24	1	0	0	0	0	0	1	0	0	11530	1095	38	1	3404	1	PBRM1	3	52651532	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	5929599	52651532	145370898	36	6201											
PBRM1	55193	genome.wustl.edu	37	chr3	52702535	52702535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttataataggactttgcattGttaaaaagaagctggaagtc	15	13	9	4	0	0	1	0	0	0	1	1	3	0	3	0	2	2	3	0	2	8	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr3:52702535G>T	ENST00000296302.7	-	3	364	c.363C>A	c.(361-363)aaC>aaA	p.N121K	PBRM1_ENST00000409767.1_Missense_Mutation_p.N121K|PBRM1_ENST00000356770.4_Missense_Mutation_p.N121K|PBRM1_ENST00000409114.3_Missense_Mutation_p.N121K|PBRM1_ENST00000394830.3_Missense_Mutation_p.N121K|PBRM1_ENST00000409057.1_Missense_Mutation_p.N121K|PBRM1_ENST00000410007.1_Missense_Mutation_p.N121K|PBRM1_ENST00000337303.4_Missense_Mutation_p.N121K			Q86U86	PB1_HUMAN	polybromo 1	121	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N121fs*8(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACTTTGCATTGTTAAAAAGAA	0.308			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Insertion - Frameshift(3)	kidney(3)											71	66	68					3																	52702535		2202	4298	6500	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.363C>A	3.37:g.52702535G>T	ENSP00000296302:p.Asn121Lys		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.N121K	ENST00000296302.7	37	c.363		3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886989	0.52014	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148	T;T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.51	3.68	0.42216	Bromodomain (5);Bromodomain, conserved site (1);	0.193585	0.53938	D	0.000049	T	0.16981	0.0408	L	0.28344	0.845	0.48288	D	0.999624	B;B;B;B;B;B;B;B;B	0.25563	0.068;0.006;0.012;0.011;0.003;0.085;0.129;0.011;0.031	B;B;B;B;B;B;B;B;B	0.21151	0.014;0.013;0.009;0.006;0.006;0.021;0.033;0.006;0.014	T	0.07290	-1.0780	10	0.19590	T	0.45	-2.6577	5.9814	0.19409	0.217:0.1429:0.6401:0.0	.	121;121;121;121;121;121;121;121;121	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	121;121;121;121;121;121;121;121;121;65;121;121	ENSP00000349213:N121K;ENSP00000378307:N121K;ENSP00000296302:N121K;ENSP00000338302:N121K;ENSP00000386593:N121K;ENSP00000386529:N121K;ENSP00000386643:N121K;ENSP00000386601:N121K;ENSP00000387775:N121K;ENSP00000397662:N65K;ENSP00000409939:N121K;ENSP00000389390:N121K	ENSP00000296302:N121K	N	-	3	2	PBRM1	52677575	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.829000	0.27449	1.447000	0.47661	0.655000	0.94253	AAC	PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000163939		0.308	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1		0	29	0	G	NM_018165		52702535	-1			no_errors	ENST00000296302	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	52702535	G	T	52702535	3	4	24	1	0	0	0	0	1	0	0	0	11530	1368	48	3	4649	3	PBRM1	3	52702535	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	51003	52702535	145319895	37	6202											
DPPA4	55211	genome.wustl.edu	37	chr3	109050582	109050582	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcctttaaaaagttaccTtttgatttgggtaggcaaag	12	14	8	7	0	0	1	0	1	0	0	1	1	1	1	3	2	1	3	3	2	6	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr3:109050582T>C	ENST00000335658.6	-	4	443	c.389A>G	c.(388-390)aAg>aGg	p.K130R	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	130					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						AAAAGTTACCTTTTGATTTGG	0.393																																																	0													97	93	95					3																	109050582		2203	4300	6503	SO:0001630	splice_region_variant	0			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.390+1A>G	3.37:g.109050582T>C			A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	NULL	p.K130R	ENST00000335658.6	37	c.389	CCDS33814.1	3	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773388	0.31411	.	.	ENSG00000121570	ENST00000335658	T	0.41758	0.99	4.11	0.0308	0.14168	.	0.665338	0.14460	N	0.318235	T	0.35566	0.0936	M	0.62723	1.935	0.18873	N	0.999982	B;D;B	0.54047	0.126;0.964;0.016	B;B;B	0.43508	0.025;0.422;0.008	T	0.22103	-1.0226	9	.	.	.	-4.9072	4.2906	0.10876	0.3721:0.0:0.1785:0.4493	.	120;130;130	B7Z5Q7;B7Z595;Q7L190	.;.;DPPA4_HUMAN	R	130	ENSP00000335306:K130R	.	K	-	2	0	DPPA4	110533272	0.998000	0.40836	0.642000	0.29436	0.225000	0.24961	0.874000	0.28065	0.017000	0.15025	0.529000	0.55759	AAG	DPPA4	-	NULL	ENSG00000121570		0.393	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	-	0	54	0	T	NM_018189	Missense_Mutation	109050582	-1	tier1	-	no_errors	ENST00000335658	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.749	C	C	109050582	T	C	109050582	5	2	24	1	0	0	0	0	0	0	1	0	4750	1623	56	4	541	4	DPPA4	3	109050582	Splice_Site	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	56348047	109050582	88971848	38	6203											
ILDR1	286676	genome.wustl.edu	37	chr3	121712109	121712109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggagtgcgagccgcggCggtgggcccgccagctctgg	3	5	21	12	5	1	0	0	0	1	0	1	2	1	1	3	6	3	1	3	6	0	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr3:121712109C>T	ENST00000344209.5	-	7	1613	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ILDR1_ENST00000393631.1_Missense_Mutation_p.R407H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000273691.3_Missense_Mutation_p.R452H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R464H	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	496					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)	p.R496H(1)|p.R452H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CGAGCCGCGGCGGTGGGCCCG	0.637																																																	2	Substitution - Missense(2)	large_intestine(2)											19	21	21					3																	121712109		2201	4296	6497	SO:0001583	missense	0			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1487G>A	3.37:g.121712109C>T	ENSP00000345667:p.Arg496His		Q6ZP61|Q7Z578	Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.R496H	ENST00000344209.5	37	c.1487	CCDS56271.1	3	.	.	.	.	.	.	.	.	.	.	C	0.854	-0.737671	0.03111	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.80909	-0.73;-0.71;-1.43;-0.3	4.38	-2.18	0.07037	.	0.665977	0.12494	N	0.464005	T	0.60728	0.2291	N	0.13043	0.29	0.18873	N	0.999987	B;B;B;B	0.12013	0.003;0.002;0.003;0.005	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.48614	-0.9020	10	0.59425	D	0.04	-9.9973	6.3034	0.21125	0.0:0.2715:0.4706:0.2579	.	407;496;452;464	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	H	452;496;407;464	ENSP00000273691:R452H;ENSP00000345667:R496H;ENSP00000377251:R407H;ENSP00000419414:R464H	ENSP00000273691:R452H	R	-	2	0	ILDR1	123194799	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.407000	0.07178	-0.460000	0.07003	-0.216000	0.12614	CGC	ILDR1	-	NULL	ENSG00000145103		0.637	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	-	0	53	0	C	NM_175924		121712109	-1	tier1	-	no_errors	ENST00000344209	ensembl	human	known	74_37	missense	24.66	54	18	SNP	0.000	T	T	121712109	C	T	121712109	3	4	24	1	0	0	0	0	1	0	0	0	7736	768	27	1	161	1	ILDR1	3	121712109	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	12661527	121712109	76310321	39	6204											
ZNF721	170960	genome.wustl.edu	37	chr4	436616	436616	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtatgaattctcctaTgtacataaaggattgcggac	12	12	8	9	1	1	1	0	1	1	0	3	3	2	3	2	2	2	2	2	2	6	6	rs534408130		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr4:436616T>G	ENST00000338977.5	-	2	1652	c.1604A>C	c.(1603-1605)cAt>cCt	p.H535P	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.H547P|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AATTCTCCTATGTACATAAAG	0.398																																																	0													89	97	94					4																	436616		2103	4257	6360	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1604A>C	4.37:g.436616T>G	ENSP00000340524:p.His535Pro		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H547P	ENST00000338977.5	37	c.1640		4	.	.	.	.	.	.	.	.	.	.	T	17.56	3.421184	0.62622	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	D;D	0.86865	-2.18;-2.18	1.28	1.28	0.21552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94522	0.8236	H	0.96720	3.87	0.27122	N	0.962118	D;D;D	0.67145	0.996;0.988;0.986	D;D;D	0.79108	0.992;0.992;0.986	D	0.85585	0.1242	9	0.87932	D	0	.	6.3325	0.21279	0.0:0.0:0.0:1.0	.	535;547;547	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	P	535;547	ENSP00000340524:H535P;ENSP00000428878:H547P	ENSP00000340524:H535P	H	-	2	0	ZNF721	426616	1.000000	0.71417	0.007000	0.13788	0.775000	0.43874	5.401000	0.66326	0.561000	0.29186	0.155000	0.16302	CAT	ZNF721	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.398	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0	61	0	T	NM_133474		436616	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.606	G	G	436616	T	G	436616	3	3	24	1	0	0	0	0	1	0	0	0	18170	1464	51	4	1135	4	ZNF721	4	436616	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09		436616	190717660	40	6205											
BOD1L	259282	genome.wustl.edu	37	chr4	13616992	13616992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgggagctgtgttgccacttCcttcctctttgtgatttagc	4	16	10	11	1	1	1	0	1	1	0	3	2	3	2	3	1	3	2	3	1	1	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr4:13616992C>T	ENST00000040738.5	-	3	638	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	168						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTTGCCACTTCCTTCCTCTTT	0.438																																																	0													260	251	254					4																	13616992		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.503G>A	4.37:g.13616992C>T	ENSP00000040738:p.Gly168Glu		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.G168E	ENST00000040738.5	37	c.503	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	16.69	3.194181	0.58017	.	.	ENSG00000038219	ENST00000040738	T	0.06068	3.35	5.42	2.74	0.32292	.	0.354060	0.20648	N	0.088273	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.15870	0.014	T	0.37753	-0.9692	10	0.36615	T	0.2	-4.756	7.99	0.30235	0.138:0.2476:0.6144:0.0	.	168	Q8NFC6	BOD1L_HUMAN	E	168	ENSP00000040738:G168E	ENSP00000040738:G168E	G	-	2	0	BOD1L	13226090	0.308000	0.24509	0.195000	0.23364	0.825000	0.46686	2.370000	0.44240	0.779000	0.33543	-0.197000	0.12766	GGA	BOD1L1	-	NULL	ENSG00000038219		0.438	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	120	0	C	NM_148894		13616992	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.026	T	T	13616992	C	T	13616992	3	4	24	1	0	0	0	0	1	0	0	0	1485	855	30	3	8748	3	BOD1L	4	13616992	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	13180376	13616992	177537284	41	6206											
GK2	2712	genome.wustl.edu	37	chr4	80328426	80328426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataatatgctggcttctctCtgcctagtttgtaagctact	8	16	7	10	0	2	0	0	0	2	0	3	0	2	0	1	1	4	5	1	1	5	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr4:80328426C>G	ENST00000358842.3	-	1	946	c.929G>C	c.(928-930)aGa>aCa	p.R310T		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGCTTCTCTCTGCCTAGTTT	0.428																																																	0													118	104	109					4																	80328426		2203	4300	6503	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.929G>C	4.37:g.80328426C>G	ENSP00000351706:p.Arg310Thr		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.R310T	ENST00000358842.3	37	c.929	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.506244	0.00992	.	.	ENSG00000196475	ENST00000358842	D	0.84660	-1.88	3.88	-3.81	0.04294	Carbohydrate kinase, FGGY, C-terminal (1);	0.120530	0.56097	D	0.000033	T	0.74489	0.3723	L	0.35414	1.06	0.41117	D	0.98578	P	0.39131	0.661	B	0.42087	0.375	T	0.66372	-0.5940	10	0.14656	T	0.56	-21.9544	11.4311	0.50041	0.0:0.3043:0.0:0.6957	.	310	Q14410	GLPK2_HUMAN	T	310	ENSP00000351706:R310T	ENSP00000351706:R310T	R	-	2	0	GK2	80547450	0.802000	0.28943	0.070000	0.20053	0.003000	0.03518	-0.015000	0.12634	-1.245000	0.02513	-1.628000	0.00784	AGA	GK2	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	ENSG00000196475		0.428	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	-	0	50	0	C	NM_033214		80328426	-1	tier1	-	no_errors	ENST00000358842	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.991	G	G	80328426	C	G	80328426	3	3	24	1	0	0	0	0	1	0	0	0	6447	913	32	5	736	5	GK2	4	80328426	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	66711434	80328426	110825850	42	6207											
COL25A1	84570	genome.wustl.edu	37	chr4	109780831	109780831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtaaggcttcgtggaggTtgccgttgtagtctatgatc	6	14	13	8	2	1	1	0	1	1	0	3	2	1	2	2	3	1	5	2	3	3	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr4:109780831T>G	ENST00000399132.1	-	24	1831	c.1301A>C	c.(1300-1302)aAc>aCc	p.N434T	COL25A1_ENST00000399126.1_Missense_Mutation_p.N434T|COL25A1_ENST00000399127.1_Missense_Mutation_p.N415T	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTCGTGGAGGTTGCCGTTGTA	0.488																																																	0													180	183	182					4																	109780831		2012	4163	6175	SO:0001583	missense	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1301A>C	4.37:g.109780831T>G	ENSP00000382083:p.Asn434Thr			Missense_Mutation	SNP	pfam_Collagen	p.N434T	ENST00000399132.1	37	c.1301	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961196	0.53400	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.95554	-3.74;-2.71;-3.74	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	L	0.50333	1.59	0.40840	D	0.983664	D;D	0.71674	0.998;0.993	D;D	0.78314	0.991;0.971	D	0.96608	0.9450	9	.	.	.	-8.307	16.1787	0.81885	0.0:0.0:0.0:1.0	.	434;434	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	T	434;436;415;415;434;364	ENSP00000382083:N434T;ENSP00000382078:N415T;ENSP00000382077:N434T	.	N	-	2	0	COL25A1	110000280	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.435000	0.73412	2.219000	0.72066	0.528000	0.53228	AAC	COL25A1	-	NULL	ENSG00000188517		0.488	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	-	0	81	0	T	NM_032518		109780831	-1	tier1	-	no_errors	ENST00000399132	ensembl	human	known	74_37	missense	14.49	59	10	SNP	1.000	G	G	109780831	T	G	109780831	3	3	24	1	0	0	0	0	1	0	0	0	3691	1725	60	4	807	4	COL25A1	4	109780831	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	29452405	109780831	81373445	43	6208											
WDR17	116966	genome.wustl.edu	37	chr4	177041086	177041086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catttgtttcccacagaggcCcactgttcatttggaccatc	8	13	7	13	0	1	1	1	0	0	1	3	2	2	2	3	2	0	2	3	2	0	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr4:177041086C>T	ENST00000280190.4	+	5	604	c.448C>T	c.(448-450)Cca>Tca	p.P150S	WDR17_ENST00000508596.1_Missense_Mutation_p.P126S|WDR17_ENST00000393643.2_Missense_Mutation_p.P126S|WDR17_ENST00000507824.2_Missense_Mutation_p.P150S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	150										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CCACAGAGGCCCACTGTTCAT	0.428																																																	0													208	194	199					4																	177041086		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.448C>T	4.37:g.177041086C>T	ENSP00000280190:p.Pro150Ser		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P150S	ENST00000280190.4	37	c.448	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233083	0.39498	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.65364	-0.15;-0.15;-0.15	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72523	-0.4267	10	0.25106	T	0.35	-13.8928	19.0102	0.92870	0.0:1.0:0.0:0.0	.	126;150	E7EQX0;Q8IZU2	.;WDR17_HUMAN	S	126;126;150;150	ENSP00000422763:P126S;ENSP00000377258:P126S;ENSP00000280190:P150S	ENSP00000280190:P150S	P	+	1	0	WDR17	177278080	1.000000	0.71417	0.725000	0.30721	0.057000	0.15508	7.259000	0.78381	2.473000	0.83533	0.655000	0.94253	CCA	WDR17	-	superfamily_WD40_repeat_dom	ENSG00000150627		0.428	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	59	0	C			177041086	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	T	T	177041086	C	T	177041086	3	4	24	1	0	0	0	0	1	0	0	0	17326	623	22	3	462	3	WDR17	4	177041086	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	67260255	177041086	14113190	44	6209											
CCT5	22948	genome.wustl.edu	37	chr5	10258535	10258535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgcaattctcacatgtcCatttgaaccacccaaaccaa	14	10	4	13	0	1	1	1	1	1	0	3	2	2	1	4	0	3	1	4	0	4	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr5:10258535C>A	ENST00000280326.4	+	6	1181	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	CCT5_ENST00000515390.1_Missense_Mutation_p.P199Q|CCT5_ENST00000515676.1_Missense_Mutation_p.P216Q|CCT5_ENST00000506600.1_Missense_Mutation_p.P161Q|CCT5_ENST00000503026.1_Missense_Mutation_p.P233Q	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	254					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CTCACATGTCCATTTGAACCA	0.388																																																	0													123	116	118					5																	10258535		2203	4300	6503	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.761C>A	5.37:g.10258535C>A	ENSP00000280326:p.Pro254Gln		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.P254Q	ENST00000280326.4	37	c.761	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	C	29.4	4.998802	0.93227	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515390;ENST00000440011;ENST00000515676;ENST00000506600	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.89829	0.6828	M	0.86864	2.845	0.80722	D	1	P;P;D;D;D;D	0.89917	0.795;0.874;1.0;0.999;0.999;0.999	P;P;D;D;D;D	0.81914	0.613;0.847;0.992;0.995;0.995;0.995	D	0.91329	0.5088	10	0.87932	D	0	-6.2705	18.3655	0.90389	0.0:1.0:0.0:0.0	.	161;199;103;252;254;254	B4DYD8;E7ENZ3;B4DZY9;Q9BU08;A8K2X8;P48643	.;.;.;.;.;TCPE_HUMAN	Q	254;233;199;227;216;161	ENSP00000280326:P254Q;ENSP00000423318:P233Q;ENSP00000426923:P199Q;ENSP00000427297:P216Q;ENSP00000423052:P161Q	ENSP00000280326:P254Q	P	+	2	0	CCT5	10311535	1.000000	0.71417	0.922000	0.36590	0.963000	0.63663	7.352000	0.79404	2.561000	0.86390	0.650000	0.86243	CCA	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.388	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	-	0	18	0	C			10258535	1	tier1	-	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A	A	10258535	C	A	10258535	3	1	24	1	0	0	0	0	1	0	0	0	2963	594	21	3	783	3	CCT5	5	10258535	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09		10258535	170656725	45	6210											
PRDM9	56979	genome.wustl.edu	37	chr5	23526968	23526968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggcggggctttagcTggcagtcagtcctcctcact	5	11	14	11	1	2	0	2	0	0	0	4	0	4	0	2	4	1	3	2	4	1	2	rs200381384		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr5:23526968T>C	ENST00000296682.3	+	11	1953	c.1771T>C	c.(1771-1773)Tgg>Cgg	p.W591R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	591					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTAGCTGGCAGTCAGT	0.602										HNSCC(3;0.000094)																																							0								G	ARG/TRP	3,4259		0,3,2128	39	44	43		1771	-4.6	0	5		43	3,8461		0,3,4229	no	missense	PRDM9	NM_020227.2	101	0,6,6357	CC,CT,TT		0.0354,0.0704,0.0471	benign	591/895	23526968	6,12720	2131	4232	6363	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1771T>C	5.37:g.23526968T>C	ENSP00000296682:p.Trp591Arg		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.W591R	ENST00000296682.3	37	c.1771	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.945267	0.00479	7.04E-4	3.54E-4	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.35048	1.33	2.31	-4.63	0.03359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	4.809070	0.00695	N	0.000755	T	0.13243	0.0321	N	0.01431	-0.87	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36114	-0.9761	10	0.06625	T	0.88	31.5291	8.9666	0.35881	0.0:0.1514:0.5687:0.2799	.	591	Q9NQV7	PRDM9_HUMAN	R	591;357	ENSP00000296682:W591R	ENSP00000253473:W357R	W	+	1	0	PRDM9	23562725	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-20.000000	0.00000	-5.111000	0.00021	-4.935000	0.00002	TGG	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.602	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	67	0	T	NM_020227		23526968	1	tier1	rs200381384	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	25.00	39	13	SNP	0.000	C	C	23526968	T	C	23526968	3	2	24	1	0	0	0	0	1	0	0	0	12505	1580	55	4	1809	4	PRDM9	5	23526968	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	13268433	23526968	157388292	46	6211											
CDH10	1008	genome.wustl.edu	37	chr5	24487994	24487994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcttttagcctttcAttaatgaaatcccggacgtc	9	15	6	11	2	3	1	2	1	1	0	5	2	4	2	2	1	2	1	2	1	3	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr5:24487994A>G	ENST00000264463.4	-	12	2652	c.2145T>C	c.(2143-2145)aaT>aaC	p.N715N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	715					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTAGCCTTTCATTAATGAAAT	0.458										HNSCC(23;0.051)																																							0													94	99	98					5																	24487994		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2145T>C	5.37:g.24487994A>G			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N715	ENST00000264463.4	37	c.2145	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000040731		0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	49	0	A	NM_006727		24487994	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	silent	37.93	18	11	SNP	0.988	G	G	24487994	A	G	24487994	2	3	24	1	0	0	0	0	0	0	0	1	3103	214	8	4		4	CDH10	5	24487994	Silent	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	961026	24487994	156427266	47	6212											
PCDHA7	56141	genome.wustl.edu	37	chr5	140214386	140214386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccagcgacacaaaggaatCtgttcatcgcggaatccagg	12	7	10	12	3	2	0	1	0	1	0	5	3	4	2	2	3	1	1	2	3	3	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr5:140214386C>G	ENST00000525929.1	+	1	418	c.418C>G	c.(418-420)Ctg>Gtg	p.L140V	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L140V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	140	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAAGGAATCTGTTCATCGC	0.567																																					NSCLC(160;258 2013 5070 22440 28951)												0													84	79	80					5																	140214386		2203	4292	6495	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.418C>G	5.37:g.140214386C>G	ENSP00000436426:p.Leu140Val		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L140V	ENST00000525929.1	37	c.418	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	0.570	-0.841691	0.02671	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.18960	2.18;2.18	4.17	3.28	0.37604	Cadherin (2);Cadherin-like (1);	0.367798	0.15099	U	0.280646	T	0.21881	0.0527	L	0.44542	1.39	0.09310	N	1	B;B	0.33612	0.143;0.419	B;B	0.43478	0.189;0.421	T	0.13124	-1.0521	10	0.29301	T	0.29	.	6.6077	0.22734	0.3068:0.606:0.0:0.0872	.	140;140	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	140	ENSP00000436426:L140V;ENSP00000367365:L140V	ENSP00000367365:L140V	L	+	1	2	PCDHA7	140194570	0.000000	0.05858	0.098000	0.21074	0.068000	0.16541	-0.694000	0.05115	2.021000	0.59480	0.455000	0.32223	CTG	PCDHA7	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204963		0.567	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	28	0	C	NM_018910		140214386	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.006	G	G	140214386	C	G	140214386	3	3	24	1	0	0	0	0	1	0	0	0	11568	912	32	5	420	5	PCDHA7	5	140214386	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	115726392	140214386	40700874	48	6213											
TNIP1	10318	genome.wustl.edu	37	chr5	150410284	150410284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatctggtctcactgaggcCcctcacggtcattttttgga	7	13	9	12	1	4	1	3	1	2	0	5	2	4	2	2	4	0	0	2	4	1	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr5:150410284C>G	ENST00000389378.2	-	18	2489	c.1901G>C	c.(1900-1902)gGg>gCg	p.G634A	TNIP1_ENST00000523200.1_Missense_Mutation_p.G570A|TNIP1_ENST00000521423.1_5'Flank|TNIP1_ENST00000315050.7_Missense_Mutation_p.G634A|TNIP1_ENST00000518977.1_Intron|TNIP1_ENST00000522226.1_Missense_Mutation_p.G634A|TNIP1_ENST00000524280.1_Missense_Mutation_p.G538R|TNIP1_ENST00000520931.1_Missense_Mutation_p.G581A|TNIP1_ENST00000523338.1_Intron|TNIP1_ENST00000521591.1_Missense_Mutation_p.G634A	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	634	Pro-rich.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACTGAGGCCCCTCACGGTC	0.443																																																	0													83	82	82					5																	150410284		2203	4300	6503	SO:0001583	missense	0			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"virion-associated nuclear-shuttling protein", "Nef-associated factor 1 SNP"	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1901G>C	5.37:g.150410284C>G	ENSP00000374029:p.Gly634Ala		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G634A	ENST00000389378.2	37	c.1901	CCDS34280.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.482|4.482	0.089444|0.089444	0.08632|0.08632	.|.	.|.	ENSG00000145901|ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000523200|ENST00000544828;ENST00000524280	T;T;T;T;T;T|T	0.12672|0.62639	2.67;2.68;2.68;2.68;2.68;2.66|0.01	5.44|5.44	4.58|4.58	0.56647|0.56647	.|.	0.424017|0.424017	0.23504|0.23504	N|N	0.047476|0.047476	T|T	0.52805|0.52805	0.1757|0.1757	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|P	0.29301|0.36837	0.241;0.241|0.571	B;B|B	0.26969|0.42030	0.075;0.075|0.373	T|T	0.40553|0.40553	-0.9557|-0.9557	10|10	0.02654|0.18276	T|T	1|0.48	-15.3599|-15.3599	10.1284|10.1284	0.42663|0.42663	0.0:0.9082:0.0:0.0918|0.0:0.9082:0.0:0.0918	.|.	570;634|538	E7ET96;Q15025|E7EPY1	.;TNIP1_HUMAN|.	A|R	581;634;634;527;596;634;634;570|495;538	ENSP00000429891:G581A;ENSP00000374029:G634A;ENSP00000317891:G634A;ENSP00000428187:G634A;ENSP00000430760:G634A;ENSP00000431105:G570A|ENSP00000429912:G538R	ENSP00000317891:G634A|ENSP00000429912:G538R	G|G	-|-	2|1	0|0	TNIP1|TNIP1	150390477|150390477	0.088000|0.088000	0.21588|0.21588	0.334000|0.334000	0.25495|0.25495	0.865000|0.865000	0.49528|0.49528	1.339000|1.339000	0.33885|0.33885	1.297000|1.297000	0.44761|0.44761	0.448000|0.448000	0.29417|0.29417	GGG|GGC	TNIP1	-	NULL	ENSG00000145901		0.443	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1	-	0	44	0	C	NM_006058		150410284	-1	tier1	-	no_errors	ENST00000315050	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.316	G	G	150410284	C	G	150410284	3	3	24	1	0	0	0	0	1	0	0	0	16361	623	22	5	13	5	TNIP1	5	150410284	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	10195898	150410284	30504976	49	6214											
FGFR4	2264	genome.wustl.edu	37	chr5	176519413	176519413	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagctgctgtgcaaggtGtacagcgatgcccagcccca	8	7	14	12	1	0	0	0	0	0	0	0	2	0	1	3	2	7	4	3	2	2	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr5:176519413G>T	ENST00000292408.4	+	7	1064	c.819G>T	c.(817-819)gtG>gtT	p.V273V	FGFR4_ENST00000393637.1_Silent_p.V273V|FGFR4_ENST00000502906.1_Silent_p.V273V|FGFR4_ENST00000393648.2_Silent_p.V273V|FGFR4_ENST00000292410.3_Silent_p.V273V	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	273	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TGTGCAAGGTGTACAGCGATG	0.657										TSP Lung(9;0.080)																																							0													38	37	38					5																	176519413		2203	4300	6503	SO:0001819	synonymous_variant	0			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.819G>T	5.37:g.176519413G>T			G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V273	ENST00000292408.4	37	c.819	CCDS4410.1	5																																																																																			FGFR4	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160867		0.657	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	-	0	24	0	G			176519413	1	tier1	-	no_errors	ENST00000292408	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.998	T	T	176519413	G	T	176519413	2	4	24	1	0	0	0	0	0	0	0	1	5890	1364	48	3		3	FGFR4	5	176519413	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	26109129	176519413	4395847	50	6215											
RMND5B	64777	genome.wustl.edu	37	chr5	177569912	177569912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgggacgcgcgggaacaGcagcagcagatcctgcagat	10	5	16	10	3	0	2	0	0	0	2	1	4	1	4	1	2	5	4	1	2	1	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr5:177569912G>C	ENST00000515098.1	+	6	696	c.345G>C	c.(343-345)caG>caC	p.Q115H	RMND5B_ENST00000542098.1_Missense_Mutation_p.Q102H|RMND5B_ENST00000313386.4_Missense_Mutation_p.Q115H			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	115								p.Q115Q(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCGGGAACAGCAGCAGCAGA	0.617																																																	1	Substitution - coding silent(1)	endometrium(1)											147	137	141					5																	177569912		2203	4300	6503	SO:0001583	missense	0			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.345G>C	5.37:g.177569912G>C	ENSP00000420875:p.Gln115His		Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.Q115H	ENST00000515098.1	37	c.345	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207927	0.39003	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098;ENST00000507457	.	.	.	4.74	4.74	0.60224	.	0.183943	0.47093	D	0.000246	T	0.45776	0.1359	N	0.25647	0.755	0.36642	D	0.876924	B;B;B	0.20052	0.024;0.041;0.0	B;B;B	0.14023	0.004;0.01;0.0	T	0.51236	-0.8731	9	0.45353	T	0.12	-15.4998	15.2307	0.73386	0.0:0.0:1.0:0.0	.	102;102;115	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	H	115;115;102;115	.	ENSP00000320623:Q115H	Q	+	3	2	RMND5B	177502518	1.000000	0.71417	0.990000	0.47175	0.628000	0.37860	4.772000	0.62324	2.161000	0.67846	0.563000	0.77884	CAG	RMND5B	-	NULL	ENSG00000145916		0.617	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	-	0	23	0	G	NM_022762		177569912	1	tier1	-	no_errors	ENST00000313386	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	C	C	177569912	G	C	177569912	3	2	24	1	0	0	0	0	1	0	0	0	13443	962	34	5	355	5	RMND5B	5	177569912	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	1050499	177569912	3345348	51	6216											
SERPINB9	5272	genome.wustl.edu	37	chr6	2892151	2892151	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctccagcagctgcgcGcgcacctcgcccacgtgggc	5	4	14	18	5	0	0	0	0	0	0	2	0	1	0	3	2	4	5	3	2	0	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:2892151G>C	ENST00000380698.4	-	6	728	c.639C>G	c.(637-639)cgC>cgG	p.R213R		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	213					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCAGCTGCGCGCGCACCTCGC	0.627																																																	0													60	62	61					6																	2892151		2203	4300	6503	SO:0001819	synonymous_variant	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.639C>G	6.37:g.2892151G>C			B2RBW3|Q5TD03	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.R213	ENST00000380698.4	37	c.639	CCDS4478.1	6																																																																																			SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000170542		0.627	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	-	0	18	0	G			2892151	-1	tier1	-	no_errors	ENST00000380698	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.000	C	C	2892151	G	C	2892151	2	2	24	1	0	0	0	0	0	0	0	1	14153	1074	38	5		5	SERPINB9	6	2892151	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09		2892151	168222916	52	6217											
HIST1H1C	3006	genome.wustl.edu	37	chr6	26056317	26056317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgggcttggcttcccCggaggctgccttcttgttga	4	13	12	12	1	1	1	0	1	1	0	2	2	2	2	4	4	2	4	4	4	1	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:26056317C>G	ENST00000343677.2	-	1	382	c.340G>C	c.(340-342)Ggg>Cgg	p.G114R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	114					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TTGGCTTCCCCGGAGGCTGCC	0.577																																																	0													70	79	76					6																	26056317		2203	4300	6503	SO:0001583	missense	0			X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"Histones / Replication-dependent"	4716	protein-coding gene	gene with protein product		142710	"H1 histone family, member 2", "histone 1, H1c"	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.340G>C	6.37:g.26056317C>G	ENSP00000339566:p.Gly114Arg		A8K4I2	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.G114R	ENST00000343677.2	37	c.340	CCDS4577.1	6	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667548	0.29604	.	.	ENSG00000187837	ENST00000343677	T	0.08546	3.08	5.54	5.54	0.83059	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.741779	0.12413	N	0.471125	T	0.12008	0.0292	L	0.52011	1.625	0.21416	N	0.999698	D	0.76494	0.999	D	0.66084	0.941	T	0.13495	-1.0507	10	0.40728	T	0.16	-22.4812	12.1964	0.54300	0.0:0.9218:0.0:0.0782	.	114	P16403	H12_HUMAN	R	114	ENSP00000339566:G114R	ENSP00000339566:G114R	G	-	1	0	HIST1H1C	26164296	0.026000	0.19158	0.435000	0.26784	0.025000	0.11179	2.188000	0.42612	2.763000	0.94921	0.655000	0.94253	GGG	HIST1H1C	-	prints_Histone_H5	ENSG00000187837		0.577	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1C	HGNC	protein_coding	OTTHUMT00000043372.1	-	0	27	0	C	NM_005319		26056317	-1	tier1	-	no_errors	ENST00000343677	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.191	G	G	26056317	C	G	26056317	3	3	24	1	0	0	0	0	1	0	0	0	7151	652	23	5	305	5	HIST1H1C	6	26056317	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	23164166	26056317	145058750	53	6218											
WDR46	9277	genome.wustl.edu	37	chr6	33255939	33255939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcaccttggctgcacttgCaatgtccacagcctccacaa	9	9	7	16	0	1	0	1	0	0	0	3	0	3	0	4	1	3	4	4	1	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:33255939C>T	ENST00000374617.4	-	5	903	c.547G>A	c.(547-549)Gca>Aca	p.A183T	PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000374610.2_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000395131.1_5'Flank|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000463584.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	183							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCTGCACTTGCAATGTCCACA	0.527																																																	0													349	332	338					6																	33255939		2203	4300	6503	SO:0001583	missense	0			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"WD repeat domain containing"	13923	protein-coding gene	gene with protein product		611440	"chromosome 6 open reading frame 11"	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.547G>A	6.37:g.33255939C>T	ENSP00000363746:p.Ala183Thr		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A183T	ENST00000374617.4	37	c.547	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	C	4.352	0.064873	0.08388	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.21932	2.17;1.98	4.28	3.4	0.38934	.	0.113393	0.64402	D	0.000012	T	0.03434	0.0099	N	0.20401	0.57	0.41423	D	0.987818	B;B	0.18741	0.009;0.03	B;B	0.19666	0.012;0.026	T	0.27839	-1.0062	10	0.09590	T	0.72	-8.5741	5.3066	0.15807	0.2025:0.6935:0.0:0.1039	.	129;183	B4DP15;O15213	.;WDR46_HUMAN	T	183;118	ENSP00000363746:A183T;ENSP00000405568:A118T	ENSP00000363746:A183T	A	-	1	0	WDR46	33363917	0.999000	0.42202	0.999000	0.59377	0.995000	0.86356	2.532000	0.45659	0.991000	0.38814	0.448000	0.29417	GCA	WDR46	-	NULL	ENSG00000227057		0.527	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2	-	0	31	0	C	NM_005452		33255939	-1	tier1	-	no_errors	ENST00000374617	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T	T	33255939	C	T	33255939	3	4	24	1	0	0	0	0	1	0	0	0	17348	710	25	3	1329	3	WDR46	6	33255939	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	7199622	33255939	137859128	54	6219											
ANKS1A	23294	genome.wustl.edu	37	chr6	34985823	34985823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtcaccctccttcgcctCggagtgggatgaggtaaggc	8	8	14	11	2	1	1	1	1	0	0	4	4	2	3	3	4	0	1	3	4	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:34985823C>T	ENST00000360359.3	+	11	2135	c.1997C>T	c.(1996-1998)tCg>tTg	p.S666L	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	666					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCCTTCGCCTCGGAGTGGGAT	0.612																																																	0													73	76	75					6																	34985823		2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1997C>T	6.37:g.34985823C>T	ENSP00000353518:p.Ser666Leu		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S666L	ENST00000360359.3	37	c.1997	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180217	0.57800	.	.	ENSG00000064999	ENST00000360359	T	0.46451	0.87	5.17	5.17	0.71159	.	0.000000	0.43747	D	0.000539	T	0.57184	0.2036	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.60845	-0.7182	10	0.87932	D	0	-9.4929	19.0382	0.92987	0.0:1.0:0.0:0.0	.	666	Q92625	ANS1A_HUMAN	L	666	ENSP00000353518:S666L	ENSP00000353518:S666L	S	+	2	0	ANKS1A	35093801	1.000000	0.71417	0.964000	0.40570	0.958000	0.62258	7.410000	0.80065	2.560000	0.86352	0.655000	0.94253	TCG	ANKS1A	-	NULL	ENSG00000064999		0.612	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	-	0	30	0	C	XM_166478		34985823	1	tier1	-	no_errors	ENST00000360359	ensembl	human	known	74_37	missense	52.17	11	12	SNP	1.000	T	T	34985823	C	T	34985823	3	4	24	1	0	0	0	0	1	0	0	0	688	893	31	1	2039	1	ANKS1A	6	34985823	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	1729884	34985823	136129244	55	6220											
COL21A1	81578	genome.wustl.edu	37	chr6	55988863	55988863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttataaataccttGaaaccgggactacccattaa	13	16	4	8	1	0	1	0	1	0	0	0	2	0	2	3	1	3	0	3	1	7	10			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:55988863G>T	ENST00000244728.5	-	16	2152	c.1755C>A	c.(1753-1755)ttC>ttA	p.F585L	COL21A1_ENST00000535941.1_Missense_Mutation_p.F585L|COL21A1_ENST00000370819.1_Missense_Mutation_p.F582L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	585	Collagen-like 3.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			taaataCCTTGAAACCGGGAC	0.259																																																	0													22	19	20					6																	55988863		1628	3703	5331	SO:0001583	missense	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1755C>A	6.37:g.55988863G>T	ENSP00000244728:p.Phe585Leu		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.F585L	ENST00000244728.5	37	c.1755	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	G	5.459	0.269854	0.10349	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.94046	-3.17;-3.34;-3.34	4.36	1.57	0.23409	.	0.259524	0.27236	N	0.020297	T	0.62454	0.2429	N	0.01631	-0.79	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50750	-0.8791	10	0.19590	T	0.45	.	6.7965	0.23729	0.3126:0.0:0.6874:0.0	.	585	Q96P44	COLA1_HUMAN	L	585;582;585;582	ENSP00000244728:F585L;ENSP00000359855:F582L;ENSP00000444384:F585L	ENSP00000244728:F585L	F	-	3	2	COL21A1	56096822	1.000000	0.71417	0.989000	0.46669	0.512000	0.34134	0.289000	0.18957	0.064000	0.16427	-0.424000	0.05967	TTC	COL21A1	-	NULL	ENSG00000124749		0.259	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	-	0	37	0	G			55988863	-1	tier1	-	no_errors	ENST00000244728	ensembl	human	known	74_37	missense	24.00	18	6	SNP	0.998	T	T	55988863	G	T	55988863	3	4	24	1	0	0	0	0	1	0	0	0	3687	1281	45	3	1178	3	COL21A1	6	55988863	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	21003040	55988863	115126204	56	6221											
LGSN	51557	genome.wustl.edu	37	chr6	63990251	63990251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttattttctatccgggtgCctttctctccatgacatttg	5	19	7	10	1	2	1	0	1	2	0	5	1	4	1	3	1	1	1	3	1	2	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:63990251C>G	ENST00000370657.4	-	4	1238	c.1205G>C	c.(1204-1206)gGc>gCc	p.G402A	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	402					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TATCCGGGTGCCTTTCTCTCC	0.438																																																	0													117	120	119					6																	63990251		2203	4300	6503	SO:0001583	missense	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1205G>C	6.37:g.63990251C>G	ENSP00000359691:p.Gly402Ala		A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.G402A	ENST00000370657.4	37	c.1205	CCDS4964.1	6	.	.	.	.	.	.	.	.	.	.	C	9.935	1.215839	0.22373	.	.	ENSG00000146166	ENST00000370657	D	0.85339	-1.97	5.96	5.96	0.96718	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.045227	0.85682	D	0.000000	D	0.85035	0.5605	L	0.37800	1.135	0.80722	D	1	P	0.46064	0.872	P	0.56612	0.802	T	0.83289	-0.0034	10	0.38643	T	0.18	-24.6636	19.4101	0.94667	0.0:1.0:0.0:0.0	.	402	Q5TDP6	LGSN_HUMAN	A	402	ENSP00000359691:G402A	ENSP00000359691:G402A	G	-	2	0	LGSN	64048210	1.000000	0.71417	0.988000	0.46212	0.040000	0.13550	4.350000	0.59392	2.832000	0.97577	0.655000	0.94253	GGC	LGSN	-	pfam_Gln_synth_cat_dom	ENSG00000146166		0.438	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2	-	0	34	0	C	NM_016571		63990251	-1	tier1	-	no_errors	ENST00000370657	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.998	G	G	63990251	C	G	63990251	3	3	24	1	0	0	0	0	1	0	0	0	8788	739	26	5	328	5	LGSN	6	63990251	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	8001388	63990251	107124816	57	6222											
BAI3	577	genome.wustl.edu	37	chr6	70082325	70082325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacgatattcagaccttGactttgaggtaagtttatat	13	15	7	6	1	2	3	2	2	0	1	2	4	2	3	1	1	0	2	1	1	5	8			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:70082325G>T	ENST00000370598.1	+	30	5088	c.4267G>T	c.(4267-4269)Gac>Tac	p.D1423Y	BAI3_ENST00000238918.8_Missense_Mutation_p.D629Y|BAI3_ENST00000546190.1_Missense_Mutation_p.D387Y	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1423					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCAGACCTTGACTTTGAGGT	0.239																																																	0													19	21	20					6																	70082325		2111	4155	6266	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4267G>T	6.37:g.70082325G>T	ENSP00000359630:p.Asp1423Tyr		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.D1423Y	ENST00000370598.1	37	c.4267	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190381	0.58017	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.08193	3.12;3.12;3.12	5.97	5.97	0.96955	.	0.046113	0.85682	D	0.000000	T	0.14657	0.0354	M	0.75085	2.285	0.50632	D	0.999881	P;D	0.59767	0.594;0.986	B;P	0.51415	0.365;0.669	T	0.00231	-1.1896	10	0.87932	D	0	.	17.3555	0.87334	0.0:0.0:1.0:0.0	.	629;1423	B7Z356;O60242	.;BAI3_HUMAN	Y	1423;629;387	ENSP00000359630:D1423Y;ENSP00000238918:D629Y;ENSP00000441821:D387Y	ENSP00000238918:D629Y	D	+	1	0	BAI3	70139046	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.873000	0.75541	2.836000	0.97738	0.655000	0.94253	GAC	BAI3	-	prints_GPCR_2_brain-spec_angio_inhib	ENSG00000135298		0.239	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	46	0	G			70082325	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	70082325	G	T	70082325	3	4	24	1	0	0	0	0	1	0	0	0	1301	1290	45	3	4377	3	BAI3	6	70082325	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	6092074	70082325	101032742	58	6223											
IBTK	25998	genome.wustl.edu	37	chr6	82921212	82921212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaagtgcacctaccaagtCtagcacaaagaacacattta	19	7	5	10	0	1	1	0	0	1	1	1	1	1	1	2	0	4	2	2	0	8	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:82921212C>T	ENST00000306270.7	-	14	2918	c.2369G>A	c.(2368-2370)aGa>aAa	p.R790K	RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000503631.1_Missense_Mutation_p.R589K|IBTK_ENST00000510291.1_Missense_Mutation_p.R790K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	790	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCTACCAAGTCTAGCACAAAG	0.318																																																	0													85	80	82					6																	82921212		2203	4300	6503	SO:0001583	missense	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2369G>A	6.37:g.82921212C>T	ENSP00000305721:p.Arg790Lys		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.R790K	ENST00000306270.7	37	c.2369	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175798	0.78564	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.69926	-0.44;-0.44;-0.44	6.08	6.08	0.98989	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	M	0.88031	2.925	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;P;D	0.85130	0.987;0.997;0.897;0.997	D	0.85312	0.1079	10	0.72032	D	0.01	-26.4567	20.6721	0.99693	0.0:1.0:0.0:0.0	.	589;790;790;790	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	790;589;790	ENSP00000305721:R790K;ENSP00000422762:R589K;ENSP00000426405:R790K	ENSP00000305721:R790K	R	-	2	0	IBTK	82977931	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.463000	0.80869	2.894000	0.99253	0.591000	0.81541	AGA	IBTK	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000005700		0.318	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	-	0	46	0	C	NM_015525		82921212	-1	tier1	-	no_errors	ENST00000306270	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T	T	82921212	C	T	82921212	3	4	24	1	0	0	0	0	1	0	0	0	7503	913	32	3	1756	3	IBTK	6	82921212	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	12838887	82921212	88193855	59	6224											
ROS1	6098	genome.wustl.edu	37	chr6	117709183	117709183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagttcaataatatcacTgatcaggatgacatctgcaa	17	10	7	7	0	4	3	3	2	1	1	4	4	4	4	0	1	1	2	0	1	5	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:117709183T>C	ENST00000368508.3	-	13	1972	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	592	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATAATATCACTGATCAGGATG	0.453			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													82	83	83					6																	117709183		2203	4300	6503	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1774A>G	6.37:g.117709183T>C	ENSP00000357494:p.Ser592Gly		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S592G	ENST00000368508.3	37	c.1774	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435944	0.62955	.	.	ENSG00000047936	ENST00000368508	D	0.82433	-1.61	4.64	3.48	0.39840	.	0.813069	0.10960	N	0.615123	T	0.55625	0.1932	N	0.22421	0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.54768	-0.8244	10	0.66056	D	0.02	.	8.2948	0.31980	0.0:0.0906:0.0:0.9094	.	592	P08922	ROS1_HUMAN	G	592	ENSP00000357494:S592G	ENSP00000357494:S592G	S	-	1	0	ROS1	117815876	0.001000	0.12720	0.045000	0.18777	0.697000	0.40408	0.676000	0.25247	0.933000	0.37291	0.379000	0.24179	AGT	ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000047936		0.453	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	-	0	24	0	T			117709183	-1	tier1	-	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.062	C	C	117709183	T	C	117709183	3	2	24	1	0	0	0	0	1	0	0	0	13576	1580	55	4	5393	4	ROS1	6	117709183	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	34787971	117709183	53405884	60	6225											
KIAA0408	9729	genome.wustl.edu	37	chr6	127771344	127771344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcagaccatctttgtGattcgtccttataaattcac	9	18	4	10	1	3	2	2	1	2	1	6	2	4	2	2	0	0	0	2	0	3	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:127771344G>T	ENST00000483725.3	-	3	625	c.289C>A	c.(289-291)Cac>Aac	p.H97N	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	97										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CCATCTTTGTGATTCGTCCTT	0.353																																																	0													128	128	128					6																	127771344		2203	4300	6503	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.289C>A	6.37:g.127771344G>T	ENSP00000435150:p.His97Asn		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.H97N	ENST00000483725.3	37	c.289	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.281000	0.00254	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.41400	1.0;1.0	5.7	1.58	0.23477	.	1.806050	0.04366	U	0.358361	T	0.11410	0.0278	N	0.19112	0.55	0.09310	N	1	B	0.30361	0.277	B	0.28638	0.092	T	0.23332	-1.0191	10	0.25106	T	0.35	-0.0264	8.8772	0.35352	0.2714:0.1107:0.618:0.0	.	97	Q6ZU52	K0408_HUMAN	N	97;109	ENSP00000435150:H97N;ENSP00000434384:H109N	ENSP00000435150:H97N	H	-	1	0	KIAA0408	127813037	0.005000	0.15991	0.003000	0.11579	0.006000	0.05464	0.296000	0.19083	0.333000	0.23563	0.650000	0.86243	CAC	KIAA0408	-	NULL	ENSG00000189367		0.353	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	-	0	32	0	G	NM_014702		127771344	-1	tier1	-	no_errors	ENST00000483725	ensembl	human	novel	74_37	missense	33.33	18	9	SNP	0.000	T	T	127771344	G	T	127771344	3	4	24	1	0	0	0	0	1	0	0	0	8201	1290	45	3	1811	3	KIAA0408	6	127771344	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	10062161	127771344	43343723	61	6226											
MED23	9439	genome.wustl.edu	37	chr6	131927730	131927730	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcaaaggcatgggttGactggggtttgttaatatca	10	14	12	5	0	2	1	2	1	0	0	2	1	2	1	0	4	1	5	0	4	3	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:131927730G>T	ENST00000368068.3	-	13	1435	c.1256C>A	c.(1255-1257)tCa>tAa	p.S419*	MED23_ENST00000539158.1_Nonsense_Mutation_p.S419*|MED23_ENST00000403834.3_Nonsense_Mutation_p.S425*|MED23_ENST00000368058.1_Nonsense_Mutation_p.S425*|MED23_ENST00000354577.4_Nonsense_Mutation_p.S425*|MED23_ENST00000368060.3_Nonsense_Mutation_p.S419*|MED23_ENST00000368053.4_Nonsense_Mutation_p.S425*|MED23_ENST00000540546.1_Nonsense_Mutation_p.S425*|MED23_ENST00000545957.1_Nonsense_Mutation_p.S60*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	419					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GGCATGGGTTGACTGGGGTTT	0.328																																																	0													89	88	88					6																	131927730		2203	4300	6503	SO:0001587	stop_gained	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1256C>A	6.37:g.131927730G>T	ENSP00000357047:p.Ser419*		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	pfam_Mediator_Med23	p.S425*	ENST00000368068.3	37	c.1274	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.425307	0.96131	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957;ENST00000368053;ENST00000540546;ENST00000539158	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-16.5014	19.6667	0.95895	0.0:0.0:1.0:0.0	.	.	.	.	X	425;419;425;419;425;60;425;425;419	.	ENSP00000346588:S425X	S	-	2	0	MED23	131969423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	2.632000	0.89209	0.650000	0.86243	TCA	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.328	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	-	0	49	0	G			131927730	-1	tier1	-	no_errors	ENST00000368058	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	1.000	T	T	131927730	G	T	131927730	4	4	24	1	0	0	0	0	0	1	0	0	9479	1294	45	3	2925	3	MED23	6	131927730	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	4156386	131927730	39187337	62	6227											
MOXD1	26002	genome.wustl.edu	37	chr6	132649624	132649624	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcgggcatgttggggtgaTagcactcgtggccggactcc	6	9	15	11	3	0	1	0	1	0	0	3	2	1	2	2	5	1	3	2	5	1	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:132649624T>C	ENST00000367963.3	-	5	891	c.773A>G	c.(772-774)tAt>tGt	p.Y258C	MOXD1_ENST00000336749.3_Missense_Mutation_p.Y190C	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	258						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		GTTGGGGTGATAGCACTCGTG	0.512																																																	0													166	142	150					6																	132649624		2203	4300	6503	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.773A>G	6.37:g.132649624T>C	ENSP00000356940:p.Tyr258Cys		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.Y258C	ENST00000367963.3	37	c.773	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994833	0.74703	.	.	ENSG00000079931	ENST00000367963;ENST00000336749	T;T	0.35789	1.29;1.29	5.13	5.13	0.70059	Copper type II, ascorbate-dependent monooxygenase, N-terminal (2);PHM/PNGase F domain (1);	0.000000	0.85682	D	0.000000	T	0.60183	0.2249	M	0.89601	3.045	0.80722	D	1	B;D	0.89917	0.216;1.0	B;D	0.85130	0.444;0.997	T	0.69038	-0.5251	10	0.54805	T	0.06	-29.71	15.2222	0.73320	0.0:0.0:0.0:1.0	.	258;190	Q6UVY6;Q6UVY6-2	MOXD1_HUMAN;.	C	258;190	ENSP00000356940:Y258C;ENSP00000336998:Y190C	ENSP00000336998:Y190C	Y	-	2	0	MOXD1	132691317	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.824000	0.62701	2.047000	0.60756	0.533000	0.62120	TAT	MOXD1	-	pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom	ENSG00000079931		0.512	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	-	0	50	0	T	NM_015529		132649624	-1	tier1	-	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	C	C	132649624	T	C	132649624	3	2	24	1	0	0	0	0	1	0	0	0	9758	1406	49	4	1100	4	MOXD1	6	132649624	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	721894	132649624	38465443	63	6228											
LTV1	84946	genome.wustl.edu	37	chr6	144179139	144179139	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacatgatgagaggtttGagaaggtaaggtccccacat	12	9	11	9	0	0	3	0	3	0	2	1	5	1	3	3	3	1	2	3	3	3	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:144179139G>T	ENST00000367576.5	+	6	924	c.790G>T	c.(790-792)Gag>Tag	p.E264*		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	264						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TGAGAGGTTTGAGAAGGTAAG	0.423																																																	0													68	68	68					6																	144179139		2203	4300	6503	SO:0001587	stop_gained	0			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 93", "LTV1 homolog (S. cerevisiae)"	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.790G>T	6.37:g.144179139G>T	ENSP00000356548:p.Glu264*		Q96JX8	Nonsense_Mutation	SNP	pfam_LTV	p.E264*	ENST00000367576.5	37	c.790	CCDS5201.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.431726	0.98279	.	.	ENSG00000135521	ENST00000367576	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	0.6556	20.0553	0.97649	0.0:0.0:1.0:0.0	.	.	.	.	X	264	.	ENSP00000356548:E264X	E	+	1	0	LTV1	144220832	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.415000	0.97375	2.754000	0.94517	0.585000	0.79938	GAG	LTV1	-	pfam_LTV	ENSG00000135521		0.423	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTV1	HGNC	protein_coding	OTTHUMT00000042532.1		0	32	0	G	NM_032860		144179139	1			no_errors	ENST00000367576	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	1.000	T	T	144179139	G	T	144179139	4	4	24	1	0	0	0	0	0	1	0	0	9116	1291	45	3	812	3	LTV1	6	144179139	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	11529515	144179139	26935928	64	6229											
SYNE1	23345	genome.wustl.edu	37	chr6	152675870	152675870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggactaactttctcctctGctgttttgagccattcatct	6	17	7	11	0	4	1	1	1	3	0	5	2	4	2	2	1	3	2	2	1	1	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:152675870G>T	ENST00000367255.5	-	67	11451	c.10850C>A	c.(10849-10851)gCa>gAa	p.A3617E	SYNE1_ENST00000265368.4_Missense_Mutation_p.A3617E|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3624E|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3588E|SYNE1_ENST00000448038.1_Missense_Mutation_p.A3624E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3617					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTCTCCTCTGCTGTTTTGAG	0.443										HNSCC(10;0.0054)																																							0													251	220	230					6																	152675870		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10850C>A	6.37:g.152675870G>T	ENSP00000356224:p.Ala3617Glu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A3617E	ENST00000367255.5	37	c.10850	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	6.989	0.552633	0.13374	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.4	0.435	0.16544	.	1.027660	0.07747	N	0.947929	T	0.08714	0.0216	N	0.08118	0	0.80722	D	1	B;B;B;B	0.21905	0.062;0.062;0.062;0.05	B;B;B;B	0.23716	0.018;0.018;0.018;0.048	T	0.16012	-1.0417	10	0.51188	T	0.08	.	9.0781	0.36534	0.72:0.0:0.28:0.0	.	3617;3617;3617;3624	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	3617;3624;3617;3624;3588	ENSP00000356224:A3617E;ENSP00000396024:A3624E;ENSP00000265368:A3617E;ENSP00000390975:A3624E;ENSP00000341887:A3588E	ENSP00000265368:A3617E	A	-	2	0	SYNE1	152717563	1.000000	0.71417	0.069000	0.20011	0.363000	0.29612	4.132000	0.57977	-0.089000	0.12484	-0.312000	0.09012	GCA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	66	0	G	NM_182961		152675870	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.831	T	T	152675870	G	T	152675870	3	4	24	1	0	0	0	0	1	0	0	0	15492	1319	46	3	15936	3	SYNE1	6	152675870	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	8496731	152675870	18439197	65	6230											
ARID1B	57492	genome.wustl.edu	37	chr6	157517375	157517377	+	In_Frame_Del	DEL	TCC	TCC	-																															caggacatgtacaaccaaagTccctccggagcaatgtctaa																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:157517375_157517377delTCC	ENST00000350026.5	+	15	3901_3903	c.3900_3902delTCC	c.(3898-3903)agtccc>agc	p.P1301del	ARID1B_ENST00000275248.4_In_Frame_Del_p.P1296del|ARID1B_ENST00000367148.1_In_Frame_Del_p.P1354del|ARID1B_ENST00000346085.5_In_Frame_Del_p.P1314del	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1301					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACAACCAAAGTCCCTCCGGAGCA	0.483																																																	0																																										SO:0001651	inframe_deletion	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3900_3902delTCC	6.37:g.157517375_157517377delTCC	ENSP00000055163:p.Pro1301del		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P1354in_frame_del	ENST00000350026.5	37	c.4059_4061	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.483	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0	28	0	TCC	NM_020732		157517377	1	tier1		no_errors	ENST00000367148	ensembl	human	known	74_37	in_frame_del	19.23	21	5	DEL	0.052:0.997:0.998	-	-	157517377	TCC	-	157517375	7	5	24	1	0	1	0	1	0	0	0	0	914	1664	58	0	4001	0	ARID1B	6	157517375	In_Frame_Del	DEL	TCC	TCGA-IG-A50L-01A-11D-A27G-09	4841505	157517375	13597692	66	6231											
IGF2R	3482	genome.wustl.edu	37	chr6	160481680	160481680	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgactctgggcaagggatcCgaaacacttactttgagttt	10	12	10	9	2	1	1	0	1	1	0	3	4	2	2	1	2	2	2	1	2	3	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr6:160481680C>T	ENST00000356956.1	+	23	3341	c.3193C>T	c.(3193-3195)Cga>Tga	p.R1065*		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1065					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCAAGGGATCCGAAACACTTA	0.507																																																	0													164	148	154					6																	160481680		2203	4300	6503	SO:0001587	stop_gained	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.3193C>T	6.37:g.160481680C>T	ENSP00000349437:p.Arg1065*		Q7Z7G9|Q96PT5	Nonsense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.R1065*	ENST00000356956.1	37	c.3193	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	C	43	9.975429	0.99308	.	.	ENSG00000197081	ENST00000356956	.	.	.	4.91	2.76	0.32466	.	0.287341	0.33127	N	0.005245	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-8.3181	11.8795	0.52566	0.0:0.8267:0.0:0.1733	.	.	.	.	X	1065	.	ENSP00000349437:R1065X	R	+	1	2	IGF2R	160401670	0.994000	0.37717	0.234000	0.24042	0.997000	0.91878	2.740000	0.47418	1.052000	0.40392	0.591000	0.81541	CGA	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.507	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	106	0	C	NM_000876		160481680	1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	nonsense	13.59	89	14	SNP	0.895	T	T	160481680	C	T	160481680	4	4	24	1	0	0	0	0	0	1	0	0	7603	644	23	1	3283	1	IGF2R	6	160481680	Nonsense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	2964305	160481680	10633387	67	6232											
HEATR2	54919	genome.wustl.edu	37	chr7	769417	769417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcgcagtgatccattttgGcaacgggaagtccgtggacg	9	8	15	9	4	0	1	0	1	0	0	2	3	2	3	2	4	1	2	2	4	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr7:769417G>C	ENST00000297440.6	+	2	733	c.713G>C	c.(712-714)gGc>gCc	p.G238A	PRKAR1B_ENST00000403562.1_5'Flank|HEATR2_ENST00000313147.5_Missense_Mutation_p.G238A|PRKAR1B_ENST00000537384.1_5'Flank|HEATR2_ENST00000438961.1_3'UTR|PRKAR1B_ENST00000488474.1_5'Flank	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	238						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		ATCCATTTTGGCAACGGGAAG	0.572																																																	0													133	108	116					7																	769417		2203	4300	6503	SO:0001583	missense	0			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.713G>C	7.37:g.769417G>C	ENSP00000297440:p.Gly238Ala		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G238A	ENST00000297440.6	37	c.713	CCDS34580.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.959661|3.959661	0.74016|0.74016	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147|ENST00000440747	T;T|.	0.65364|.	-0.15;-0.15|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.68924|0.68924	0.3054|0.3054	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.61940|.	0.896|.	T|T	0.65573|0.65573	-0.6135|-0.6135	10|5	0.62326|.	D|.	0.03|.	-48.6796|-48.6796	18.7191|18.7191	0.91686|0.91686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	238|.	Q86Y56|.	HEAT2_HUMAN|.	A|C	238|39	ENSP00000297440:G238A;ENSP00000321451:G238A|.	ENSP00000297440:G238A|.	G|W	+|+	2|3	0|0	HEATR2|HEATR2	735943|735943	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.388000|0.388000	0.30384|0.30384	8.852000|8.852000	0.92215|0.92215	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GGC|TGG	HEATR2	-	superfamily_ARM-type_fold	ENSG00000164818		0.572	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR2	HGNC	protein_coding	OTTHUMT00000322542.1	-	0	51	0	G	NM_017802		769417	1	tier1	-	no_errors	ENST00000297440	ensembl	human	known	74_37	missense	11.43	62	8	SNP	1.000	C	C	769417	G	C	769417	3	2	24	1	0	0	0	0	1	0	0	0	7055	1203	42	5	719	5	HEATR2	7	769417	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09		769417	158369246	68	6233											
SCIN	85477	genome.wustl.edu	37	chr7	12644288	12644288	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctcagaacttataaaGgtattgtgactcctgttgtt	11	14	8	8	0	1	2	1	1	0	1	2	3	2	2	2	1	2	3	2	1	6	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr7:12644288G>A	ENST00000297029.5	+	4	767	c.666G>A	c.(664-666)aaG>aaA	p.K222K	SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	222	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AACTTATAAAGGTATTGTGAC	0.463																																																	0													256	225	234					7																	12644288		692	1591	2283	SO:0001630	splice_region_variant	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.666+1G>A	7.37:g.12644288G>A			A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.K222	ENST00000297029.5	37	c.666	CCDS47545.1	7																																																																																			SCIN	-	smart_Villin/Gelsolin	ENSG00000006747		0.463	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	-	0	60	0	G	NM_033128	Silent	12644288	1	tier1	-	no_errors	ENST00000297029	ensembl	human	known	74_37	silent	8.62	53	5	SNP	1.000	A	A	12644288	G	A	12644288	5	1	24	1	0	0	0	0	0	0	1	0	13950	1014	35	3	680	3	SCIN	7	12644288	Splice_Site	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	11874871	12644288	146494375	69	6234											
DGKB	1607	genome.wustl.edu	37	chr7	14661089	14661089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctgctgggaaccacTcttttcctttttcactgttg	4	18	9	10	0	2	0	1	0	1	0	3	1	3	1	2	2	2	4	2	2	1	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr7:14661089T>C	ENST00000403951.2	-	15	1620	c.1201A>G	c.(1201-1203)Agt>Ggt	p.S401G	DGKB_ENST00000402815.1_Missense_Mutation_p.S400G|DGKB_ENST00000399322.3_Missense_Mutation_p.S401G|DGKB_ENST00000407950.1_Missense_Mutation_p.S393G|DGKB_ENST00000444700.2_Missense_Mutation_p.S382G|DGKB_ENST00000406247.3_Missense_Mutation_p.S401G|DGKB_ENST00000258767.5_Missense_Mutation_p.S401G|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	401					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						TGGGAACCACTCTTTTCCTTT	0.303																																																	0													150	126	133					7																	14661089		1819	4077	5896	SO:0001583	missense	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"EF-hand domain containing"	2850	protein-coding gene	gene with protein product		604070	"diacylglycerol kinase, beta (90kD)"	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1201A>G	7.37:g.14661089T>C	ENSP00000385780:p.Ser401Gly		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S401G	ENST00000403951.2	37	c.1201	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	T	6.640	0.486491	0.12641	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.80393	-1.28;-1.28;-1.28;-1.27;-1.27;-1.25;-1.37	4.86	-3.61	0.04556	.	0.973157	0.08492	N	0.937826	T	0.51907	0.1702	N	0.01789	-0.72	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.38929	-0.9638	10	0.20519	T	0.43	.	8.8206	0.35023	0.1064:0.2621:0.0:0.6314	.	400;382;401;401	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	G	401;401;401;400;393;382;401	ENSP00000385780:S401G;ENSP00000382260:S401G;ENSP00000258767:S401G;ENSP00000384909:S400G;ENSP00000385031:S393G;ENSP00000388451:S382G;ENSP00000386066:S401G	ENSP00000258767:S401G	S	-	1	0	DGKB	14627614	0.000000	0.05858	0.067000	0.19924	0.917000	0.54804	-0.311000	0.08124	-0.753000	0.04721	0.260000	0.18958	AGT	DGKB	-	NULL	ENSG00000136267		0.303	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	-	0	110	0	T	NM_004080		14661089	-1	tier1	-	no_errors	ENST00000258767	ensembl	human	known	74_37	missense	12.90	108	16	SNP	0.001	C	C	14661089	T	C	14661089	3	2	24	1	0	0	0	0	1	0	0	0	4480	1551	54	4	1276	4	DGKB	7	14661089	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	2016801	14661089	144477574	70	6235											
DUS4L	11062	genome.wustl.edu	37	chr7	107217834	107217834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaccccactgaaatgcatCtgggactgggttgacattgc	11	9	11	10	0	1	2	0	2	1	0	1	4	1	3	2	2	3	2	2	2	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr7:107217834C>G	ENST00000265720.3	+	8	1145	c.783C>G	c.(781-783)atC>atG	p.I261M	RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000465919.1_5'Flank|BCAP29_ENST00000005259.4_5'Flank|BCAP29_ENST00000445771.2_5'Flank|DUS4L_ENST00000402620.1_Missense_Mutation_p.I140M	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	261							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TGAAATGCATCTGGGACTGGG	0.428																																																	0													199	194	196					7																	107217834		2203	4300	6503	SO:0001583	missense	0			U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"protein similar to E.coli yhdg and R. capsulatus nifR3"						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.783C>G	7.37:g.107217834C>G	ENSP00000265720:p.Ile261Met		B4DLX0|Q2NKK1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_OxRdtase_FMN_N,pirsf_tRNA_hU_synthase	p.I261M	ENST00000265720.3	37	c.783	CCDS5745.1	7	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355230	0.61293	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.22945	1.93;1.93	5.56	5.56	0.83823	.	0.273432	0.40908	N	0.000996	T	0.46737	0.1408	M	0.62209	1.925	0.49915	D	0.999837	P;P	0.34587	0.458;0.458	P;P	0.59487	0.858;0.858	T	0.42682	-0.9437	10	0.51188	T	0.08	.	9.0926	0.36621	0.1473:0.7791:0.0:0.0736	.	261;261	A4D0R5;O95620	.;DUS4L_HUMAN	M	261;140	ENSP00000265720:I261M;ENSP00000385274:I140M	ENSP00000265720:I261M	I	+	3	3	DUS4L	107005070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.118000	0.31246	2.765000	0.95021	0.655000	0.94253	ATC	DUS4L	-	pfam_tRNA_hU_synthase,pirsf_tRNA_hU_synthase	ENSG00000105865		0.428	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS4L	HGNC	protein_coding	OTTHUMT00000336967.2	-	0	81	0	C	NM_181581		107217834	1	tier1	-	no_errors	ENST00000265720	ensembl	human	known	74_37	missense	9.40	106	11	SNP	1.000	G	G	107217834	C	G	107217834	3	3	24	1	0	0	0	0	1	0	0	0	4822	903	32	5	805	5	DUS4L	7	107217834	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	92556745	107217834	51920829	71	6236											
TRPV5	56302	genome.wustl.edu	37	chr7	142622702	142622702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaacttaagggggcggtaGacgcagcacgtggtaaagca	13	5	15	8	4	0	1	0	0	0	1	0	2	0	1	0	4	3	5	0	4	5	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr7:142622702G>A	ENST00000265310.1	-	8	1392	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	TRPV5_ENST00000442623.1_Silent_p.V348V	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	348					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGGGGCGGTAGACGCAGCACG	0.527																																																	0													139	119	126					7																	142622702		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1044C>T	7.37:g.142622702G>A			A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.V348	ENST00000265310.1	37	c.1044	CCDS5875.1	7																																																																																			TRPV5	-	prints_TRPV5/TRPV6,tigrfam_TRP_channel	ENSG00000127412		0.527	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	-	0	41	0	G	NM_019841		142622702	-1	tier1	-	no_errors	ENST00000265310	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.998	A	A	142622702	G	A	142622702	2	1	24	1	0	0	0	0	0	0	0	1	16647	929	33	3		3	TRPV5	7	142622702	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	35404868	142622702	16515961	72	6237											
NOS3	4846	genome.wustl.edu	37	chr7	150707823	150707823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagccccggtactactcaGtcagctcggcacccagcacc	8	6	8	19	2	2	0	2	0	0	0	4	0	3	0	5	2	5	4	5	2	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr7:150707823G>T	ENST00000297494.3	+	22	3181	c.2824G>T	c.(2824-2826)Gtc>Ttc	p.V942F	ATG9B_ENST00000494791.1_5'Flank|NOS3_ENST00000461406.1_Missense_Mutation_p.V736F|NOS3_ENST00000477227.1_3'UTR	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACTACTCAGTCAGCTCGGC	0.657																																																	0													31	33	33					7																	150707823		2203	4300	6503	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2824G>T	7.37:g.150707823G>T	ENSP00000297494:p.Val942Phe		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.V942F	ENST00000297494.3	37	c.2824	CCDS5912.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.616327|4.616327	0.87359|0.87359	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000475017|ENST00000297494;ENST00000461406	.|T;T	.|0.35421	.|1.31;1.31	4.85|4.85	4.85|4.85	0.62838|0.62838	.|Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	.|0.108905	.|0.39475	.|N	.|0.001352	T|T	0.46288|0.46288	0.1385|0.1385	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	.|P;D	.|0.53151	.|0.915;0.958	.|P;D	.|0.65573	.|0.906;0.936	T|T	0.42599|0.42599	-0.9442|-0.9442	5|10	.|0.87932	.|D	.|0	-13.1133|-13.1133	8.9683|8.9683	0.35890|0.35890	0.0984:0.0:0.9016:0.0|0.0984:0.0:0.9016:0.0	.|.	.|736;942	.|E7ESA7;P29474	.|.;NOS3_HUMAN	H|F	235|942;736	.|ENSP00000297494:V942F;ENSP00000417143:V736F	.|ENSP00000297494:V942F	Q|V	+|+	3|1	2|0	NOS3|NOS3	150338756|150338756	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.904000|0.904000	0.53231|0.53231	4.366000|4.366000	0.59492|0.59492	2.519000|2.519000	0.84933|0.84933	0.484000|0.484000	0.47621|0.47621	CAG|GTC	NOS3	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000164867		0.657	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	-	0	29	0	G	NM_000603		150707823	1	tier1	-	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.995	T	T	150707823	G	T	150707823	3	4	24	1	0	0	0	0	1	0	0	0	10583	1029	36	3	3188	3	NOS3	7	150707823	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	8085121	150707823	8430840	73	6238											
EFCAB1	79645	genome.wustl.edu	37	chr8	49644005	49644005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccagaccttgcctctctActcctcccaccaagtcataa	11	9	3	18	0	2	1	1	0	1	1	5	1	4	1	6	0	3	0	6	0	4	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr8:49644005A>G	ENST00000262103.3	-	2	196	c.116T>C	c.(115-117)gTa>gCa	p.V39A	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	39							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTGCCTCTCTACTCCTCCCAC	0.353																																																	0													101	93	96					8																	49644005		2203	4300	6503	SO:0001583	missense	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.116T>C	8.37:g.49644005A>G	ENSP00000262103:p.Val39Ala		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.V39A	ENST00000262103.3	37	c.116	CCDS6145.1	8	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.516284	0.00975	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	T	0.67523	-0.27	4.77	0.742	0.18341	EF-hand-like domain (1);	0.911550	0.09544	N	0.787871	T	0.33147	0.0853	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25710	-1.0124	10	0.02654	T	1	.	7.4233	0.27083	0.5507:0.0:0.4493:0.0	.	39	Q9HAE3	EFCB1_HUMAN	A	39	ENSP00000262103:V39A	ENSP00000262103:V39A	V	-	2	0	EFCAB1	49806558	0.000000	0.05858	0.018000	0.16275	0.135000	0.20990	0.192000	0.17096	0.017000	0.15025	0.528000	0.53228	GTA	EFCAB1	-	NULL	ENSG00000034239		0.353	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	-	0	46	0	A	NM_024593		49644005	-1	tier1	-	no_errors	ENST00000262103	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.028	G	G	49644005	A	G	49644005	3	3	24	1	0	0	0	0	1	0	0	0	4947	391	14	4	539	4	EFCAB1	8	49644005	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09		49644005	96720017	74	6239											
TOX	9760	genome.wustl.edu	37	chr8	59727949	59727949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacctgcatggggagctggTtcccaaggggctgctgcatg	6	8	17	10	0	0	0	0	0	0	0	1	2	1	2	2	6	4	6	2	6	1	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr8:59727949T>A	ENST00000361421.1	-	7	1560	c.1340A>T	c.(1339-1341)aAc>aTc	p.N447I	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	447						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGGGAGCTGGTTCCCAAGGGG	0.587																																					Pancreas(161;610 1969 17913 21374 22725)												0													75	78	77					8																	59727949		2203	4300	6503	SO:0001583	missense	0				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1340A>T	8.37:g.59727949T>A	ENSP00000354842:p.Asn447Ile		Q96AV5	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.N447I	ENST00000361421.1	37	c.1340	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	T	11.96	1.793211	0.31685	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.12039	2.72	5.97	-2.09	0.07232	.	0.676502	0.15485	N	0.259881	T	0.06371	0.0164	N	0.14661	0.345	0.36401	D	0.863116	B	0.19935	0.04	B	0.25614	0.062	T	0.40534	-0.9558	9	.	.	.	.	6.9452	0.24514	0.0:0.342:0.1229:0.535	.	447	O94900	TOX_HUMAN	I	447;197	ENSP00000354842:N447I	.	N	-	2	0	TOX	59890503	1.000000	0.71417	0.929000	0.37066	0.975000	0.68041	1.607000	0.36836	-0.559000	0.06110	0.477000	0.44152	AAC	TOX	-	NULL	ENSG00000198846		0.587	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1		0	58	0	T	NM_014729		59727949	-1			no_errors	ENST00000361421	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	59727949	T	A	59727949	3	1	24	1	0	0	0	0	1	0	0	0	16425	1725	60	5	252	5	TOX	8	59727949	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	10083944	59727949	86636073	75	6240											
VCPIP1	80124	genome.wustl.edu	37	chr8	67547064	67547064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattgaagcctgaatagaaGaaaccatttcctgcaatttt	14	12	6	9	0	0	4	0	2	0	2	1	4	1	4	4	0	3	1	4	0	6	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr8:67547064G>A	ENST00000310421.4	-	3	3599	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	1114					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGAATAGAAGAAACCATTTC	0.448																																					NSCLC(179;265 2915 6144 43644)												0													70	72	71					8																	67547064		2203	4300	6503	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.3341C>T	8.37:g.67547064G>A	ENSP00000309031:p.Ser1114Phe		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.S1114F	ENST00000310421.4	37	c.3341	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101150	0.56183	.	.	ENSG00000175073	ENST00000310421	T	0.40476	1.03	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.36672	1.1	0.80722	D	1	P	0.50943	0.94	D	0.63488	0.915	T	0.57171	-0.7857	10	0.87932	D	0	-12.4959	15.0287	0.71691	0.0685:0.0:0.9315:0.0	.	1114	Q96JH7	VCIP1_HUMAN	F	1114	ENSP00000309031:S1114F	ENSP00000309031:S1114F	S	-	2	0	VCPIP1	67709618	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.188000	0.94921	1.425000	0.47237	0.591000	0.81541	TCT	VCPIP1	-	NULL	ENSG00000175073		0.448	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	-	0	34	0	G			67547064	-1	tier1	-	no_errors	ENST00000310421	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	A	A	67547064	G	A	67547064	3	1	24	1	0	0	0	0	1	0	0	0	17190	942	33	3	331	3	VCPIP1	8	67547064	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	7819115	67547064	78816958	76	6241											
STAU2	27067	genome.wustl.edu	37	chr8	74333612	74333612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttctgggagctgctagaCggccgagtttgatttcttgc	5	13	15	8	2	2	2	0	1	2	1	2	4	2	3	1	3	3	4	1	3	1	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr8:74333612C>A	ENST00000524300.1	-	15	2058	c.1708G>T	c.(1708-1710)Gtc>Ttc	p.V570F	STAU2-AS1_ENST00000517604.1_lincRNA|STAU2_ENST00000523558.1_Missense_Mutation_p.V398F|STAU2_ENST00000521210.1_Missense_Mutation_p.V504F|STAU2_ENST00000522695.1_Missense_Mutation_p.V538F	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	570	Required for dendritic transport. {ECO:0000250}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGCTGCTAGACGGCCGAGTTT	0.522																																																	0													88	81	83					8																	74333612		692	1591	2283	SO:0001583	missense	0			Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"staufen (Drosophila, RNA-binding protein) homolog 2", "staufen, RNA binding protein, homolog 2 (Drosophila)"			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.1708G>T	8.37:g.74333612C>A	ENSP00000428756:p.Val570Phe		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.V570F	ENST00000524300.1	37	c.1708	CCDS55247.1	8	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142190	0.57044	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210	T;T;T;T	0.34859	1.39;1.4;1.39;1.34	5.11	1.54	0.23209	.	0.541842	0.18364	N	0.143493	T	0.29588	0.0738	L	0.44542	1.39	0.80722	D	1	P;B;P;B	0.48089	0.905;0.447;0.745;0.447	B;B;B;B	0.44163	0.443;0.279;0.279;0.279	T	0.06826	-1.0805	10	0.87932	D	0	-17.8909	5.9804	0.19403	0.0:0.4641:0.0:0.5359	.	504;398;538;570	E9PEI3;E7ER74;E9PH62;E9PF26	.;.;.;.	F	538;570;398;504	ENSP00000428456:V538F;ENSP00000428756:V570F;ENSP00000428741:V398F;ENSP00000429173:V504F	ENSP00000344030:V398F	V	-	1	0	STAU2	74496166	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.102000	0.57776	0.444000	0.26612	-0.122000	0.15005	GTC	STAU2	-	NULL	ENSG00000040341		0.522	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAU2	HGNC	protein_coding	OTTHUMT00000379000.2	-	0	55	0	C	NM_001164380		74333612	-1	tier1	-	no_errors	ENST00000524300	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	A	A	74333612	C	A	74333612	3	1	24	1	0	0	0	0	1	0	0	0	15320	536	19	2	8	2	STAU2	8	74333612	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	6786548	74333612	72030410	77	6242											
ZNF658	26149	genome.wustl.edu	37	chr9	40774731	40774731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatttctcttcagcatgagCtttctcatgcttaatatcaa	11	16	5	9	0	4	2	3	1	2	1	6	2	4	2	0	0	3	3	0	0	3	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr9:40774731C>T	ENST00000602553.1	-	5	838	c.544G>A	c.(544-546)Gct>Act	p.A182T	ZNF658_ENST00000441795.1_Missense_Mutation_p.A180T|ZNF658_ENST00000377626.3_Missense_Mutation_p.A182T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCAGCATGAGCTTTCTCATGC	0.318																																																	0													8	8	8					9																	40774731		1966	3877	5843	SO:0001583	missense	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"Zinc fingers, C2H2-type", "-"	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.544G>A	9.37:g.40774731C>T	ENSP00000473484:p.Ala182Thr		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A182T	ENST00000602553.1	37	c.544	CCDS35023.1	9	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.913438	0.00503	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	T;T	0.05199	3.76;3.48	1.81	-2.55	0.06288	.	.	.	.	.	T	0.01661	0.0053	N	0.00841	-1.15	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.48490	-0.9031	9	0.13853	T	0.58	.	6.6194	0.22794	0.0:0.4582:0.0:0.5418	.	182;182	Q5TYW1-2;Q5TYW1	.;ZN658_HUMAN	T	180;182	ENSP00000408462:A180T;ENSP00000366853:A182T	ENSP00000366853:A182T	A	-	1	0	ZNF658	40764731	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-0.615000	0.05597	-0.608000	0.05731	-0.525000	0.04345	GCT	ZNF658	-	NULL	ENSG00000196409		0.318	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1		0	85	0	C	NM_033160		40774731	-1			no_errors	ENST00000377626	ensembl	human	known	74_37	missense	6.82	81	6	SNP	0.000	T	T	40774731	C	T	40774731	3	4	24	1	0	0	0	0	1	0	0	0	18117	797	28	3	2639	3	ZNF658	9	40774731	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09		40774731	100438700	78	6243											
SMC5	23137	genome.wustl.edu	37	chr9	72915086	72915086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataacagagacaaatttaaAcaaagagtctgtgagcccat	19	8	7	7	0	1	3	0	1	1	2	1	4	1	3	1	0	3	0	1	0	6	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr9:72915086A>G	ENST00000361138.5	+	10	1492	c.1434A>G	c.(1432-1434)aaA>aaG	p.K478K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	478	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACAAATTTAAACAAAGAGTCT	0.328																																																	0													88	84	85					9																	72915086		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1434A>G	9.37:g.72915086A>G			A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.K478	ENST00000361138.5	37	c.1434	CCDS6632.1	9																																																																																			SMC5	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000198887		0.328	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	-	0	40	0	A	NM_015110		72915086	1	tier1	-	no_errors	ENST00000361138	ensembl	human	known	74_37	silent	53.57	26	30	SNP	0.995	G	G	72915086	A	G	72915086	2	3	24	1	0	0	0	0	0	0	0	1	14831	40	2	4		4	SMC5	9	72915086	Silent	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	32140355	72915086	68298345	79	6244											
BICD2	23299	genome.wustl.edu	37	chr9	95526977	95526977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagccactccggctgcGcctccatcaccagccgcgcg	5	4	11	21	7	1	0	1	0	0	0	3	0	3	0	6	1	3	2	6	1	0	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr9:95526977G>T	ENST00000375512.3	-	1	117	c.50C>A	c.(49-51)gCg>gAg	p.A17E	BICD2_ENST00000356884.6_Missense_Mutation_p.A17E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	17					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCGGCTGCGCCTCCATCAC	0.731																																																	0													9	10	9					9																	95526977		2068	4116	6184	SO:0001583	missense	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.50C>A	9.37:g.95526977G>T	ENSP00000364662:p.Ala17Glu		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.A17E	ENST00000375512.3	37	c.50	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	.	16.77	3.215213	0.58452	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.44881	0.91;0.92	4.35	4.35	0.52113	.	0.211686	0.38548	N	0.001654	T	0.42539	0.1207	L	0.34521	1.04	0.43512	D	0.995772	D;P	0.55800	0.973;0.954	P;P	0.53360	0.724;0.534	T	0.10660	-1.0620	10	0.17832	T	0.49	-38.5328	15.1518	0.72706	0.0:0.0:1.0:0.0	.	17;17	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	17	ENSP00000349351:A17E;ENSP00000364662:A17E	ENSP00000349351:A17E	A	-	2	0	BICD2	94566798	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	8.700000	0.91322	2.349000	0.79799	0.195000	0.17529	GCG	BICD2	-	NULL	ENSG00000185963		0.731	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1		0	9	0	G	NM_015250		95526977	-1			no_errors	ENST00000356884	ensembl	human	known	74_37	missense	26.92	18	7	SNP	1.000	T	T	95526977	G	T	95526977	3	4	24	1	0	0	0	0	1	0	0	0	1431	1087	38	2	2555	2	BICD2	9	95526977	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	22611891	95526977	45686454	80	6245											
C9orf3	84909	genome.wustl.edu	37	chr9	97555138	97555138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagaaatgaagatggaGacatggtcatcaaatgattt	16	10	11	4	0	2	5	2	2	0	3	2	7	2	6	0	3	0	0	0	3	3	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr9:97555138G>T	ENST00000375315.2	+	3	1056	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	C9orf3_ENST00000277198.2_Missense_Mutation_p.E352D|C9orf3_ENST00000297979.5_Missense_Mutation_p.E352D	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	352					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGAAGATGGAGACATGGTCAT	0.448																																																	0													217	213	214					9																	97555138		2203	4300	6503	SO:0001583	missense	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1056G>T	9.37:g.97555138G>T	ENSP00000364464:p.Glu352Asp		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.E352D	ENST00000375315.2	37	c.1056	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539128	0.13250	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T;T	0.02709	4.19;4.19;4.19;4.19;4.19	4.68	0.693	0.18056	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.290185	0.31636	N	0.007316	T	0.01156	0.0038	N	0.08118	0	0.19775	N	0.999951	B;B;B;B	0.30709	0.035;0.291;0.01;0.028	B;B;B;B	0.22386	0.018;0.039;0.006;0.01	T	0.49360	-0.8948	10	0.13470	T	0.59	-2.0645	4.5136	0.11924	0.3512:0.0:0.4975:0.1513	.	352;352;352;352	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	D	352;352;352;175;134	ENSP00000277198:E352D;ENSP00000297979:E352D;ENSP00000364464:E352D;ENSP00000402171:E175D;ENSP00000401854:E134D	ENSP00000277198:E352D	E	+	3	2	C9orf3	96594959	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	0.293000	0.19029	0.266000	0.21894	0.557000	0.71058	GAG	C9orf3	-	pfam_Peptidase_M1_N	ENSG00000148120		0.448	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		-	0	79	0	G	NM_032823		97555138	1	tier1	-	no_errors	ENST00000375315	ensembl	human	known	74_37	missense	8.41	98	9	SNP	0.000	T	T	97555138	G	T	97555138	3	4	24	1	0	0	0	0	1	0	0	0	2484	933	33	3	1066	3	C9orf3	9	97555138	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	2028161	97555138	43658293	81	6246											
C9orf125	84302	genome.wustl.edu	37	chr9	104238534	104238534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggctggcaaacctcaTgtatatccaggttagtaagg	10	10	13	8	1	1	0	1	0	0	0	2	0	2	0	2	5	1	5	2	5	5	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr9:104238534T>C	ENST00000374851.1	-	4	1988	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	TMEM246_ENST00000374848.3_Missense_Mutation_p.M281V|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.M281V|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	281						integral component of membrane (GO:0016021)											GCAAACCTCATGTATATCCAG	0.557																																																	0													108	112	110					9																	104238534		2203	4300	6503	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.841A>G	9.37:g.104238534T>C	ENSP00000363984:p.Met281Val		Q49AQ4	Missense_Mutation	SNP	NULL	p.M281V	ENST00000374851.1	37	c.841	CCDS6757.1	9	.	.	.	.	.	.	.	.	.	.	T	1.642	-0.516168	0.04200	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.69	3.41	0.39046	.	0.467318	0.24147	N	0.041106	T	0.07234	0.0183	N	0.00707	-1.245	0.29273	N	0.870563	B	0.06786	0.001	B	0.04013	0.001	T	0.29671	-1.0004	9	0.11182	T	0.66	-21.4437	5.296	0.15752	0.1521:0.1297:0.0:0.7182	.	281	Q9BRR3	CI125_HUMAN	V	281	.	ENSP00000363980:M281V	M	-	1	0	C9orf125	103278355	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.870000	0.28010	2.177000	0.69029	0.455000	0.32223	ATG	TMEM246	-	NULL	ENSG00000165152		0.557	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	-	0	30	0	T	NM_032342		104238534	-1	tier1	-	no_errors	ENST00000374847	ensembl	human	known	74_37	missense	28.00	17	7	SNP	0.822	C	C	104238534	T	C	104238534	3	2	24	1	0	0	0	0	1	0	0	0	2461	1464	51	4	374	4	C9orf125	9	104238534	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	6683396	104238534	36974897	82	6247											
NOTCH1	4851	genome.wustl.edu	37	chr9	139411817	139411817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactcgtctgtgttgacctCgcagtgcacaccctcgtagc	7	10	9	15	3	1	1	0	1	1	0	4	1	1	1	2	0	2	4	2	0	1	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr9:139411817C>T	ENST00000277541.6	-	9	1537	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	488	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGTTGACCTCGCAGTGCACA	0.652			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													29	36	33					9																	139411817		2103	4224	6327	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1462G>A	9.37:g.139411817C>T	ENSP00000277541:p.Glu488Lys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E488K	ENST00000277541.6	37	c.1462	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	27.2	4.811656	0.90707	.	.	ENSG00000148400	ENST00000277541	D	0.95001	-3.58	4.54	4.54	0.55810	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.171931	0.49916	D	0.000128	D	0.97170	0.9075	M	0.93197	3.39	0.80722	D	1	P	0.52577	0.954	P	0.54140	0.743	D	0.97943	1.0327	10	0.54805	T	0.06	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	488	P46531	NOTC1_HUMAN	K	488	ENSP00000277541:E488K	ENSP00000277541:E488K	E	-	1	0	NOTCH1	138531638	0.997000	0.39634	0.918000	0.36340	0.772000	0.43724	3.532000	0.53553	2.062000	0.61559	0.557000	0.71058	GAG	NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	22	0	C	NM_017617		139411817	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	29.03	44	18	SNP	1.000	T	T	139411817	C	T	139411817	3	4	24	1	0	0	0	0	1	0	0	0	10586	893	31	1	6309	1	NOTCH1	9	139411817	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	35173283	139411817	1801614	83	6248											
CDHR1	92211	genome.wustl.edu	37	chr10	85962761	85962761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggaggcttcatggggCtgatgtggtgttctcagcca	5	11	17	8	1	2	1	2	1	1	0	3	2	2	2	1	6	1	3	1	6	0	2	rs537851141		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr10:85962761C>A	ENST00000372117.3	+	8	768	c.665C>A	c.(664-666)gCt>gAt	p.A222D	CDHR1_ENST00000332904.3_Missense_Mutation_p.A222D|CDHR1_ENST00000440770.2_5'UTR	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTTCATGGGGCTGATGTGGTG	0.547																																																	0													207	163	178					10																	85962761		2203	4300	6503	SO:0001583	missense	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.665C>A	10.37:g.85962761C>A	ENSP00000361189:p.Ala222Asp		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A222D	ENST00000372117.3	37	c.665	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	C	7.671	0.686902	0.14973	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.02472	4.28;4.28	4.97	2.97	0.34412	Cadherin (4);Cadherin-like (1);	0.270585	0.37393	N	0.002102	T	0.02012	0.0063	N	0.26042	0.785	0.43569	D	0.995895	B;B	0.11235	0.003;0.004	B;B	0.18561	0.009;0.022	T	0.47959	-0.9076	10	0.11485	T	0.65	-12.1694	5.8836	0.18868	0.3192:0.5824:0.0:0.0983	.	222;222	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	D	222	ENSP00000331063:A222D;ENSP00000361189:A222D	ENSP00000331063:A222D	A	+	2	0	CDHR1	85952741	0.980000	0.34600	0.805000	0.32314	0.885000	0.51271	2.820000	0.48057	1.328000	0.45358	0.561000	0.74099	GCT	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000148600		0.547	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	-	0	55	0	C	NM_033100		85962761	1	tier1	-	no_errors	ENST00000372117	ensembl	human	known	74_37	missense	8.45	65	6	SNP	0.468	A	A	85962761	C	A	85962761	3	1	24	1	0	0	0	0	1	0	0	0	3125	797	28	3	695	3	CDHR1	10	85962761	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09		85962761	49571986	84	6249											
HELLS	3070	genome.wustl.edu	37	chr10	96331177	96331177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctaaaaaaaataaaaaGgagaatgaggtaagaaattt	22	8	10	1	0	0	3	0	1	0	2	0	4	0	3	0	3	0	2	0	3	10	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr10:96331177G>T	ENST00000348459.5	+	7	573	c.468G>T	c.(466-468)aaG>aaT	p.K156N	HELLS_ENST00000371332.4_Missense_Mutation_p.K156N|HELLS_ENST00000394044.1_Missense_Mutation_p.K156N|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.K156N	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAAATAAAAAGGAGAATGAGG	0.254																																																	0													44	51	49					10																	96331177		2171	4269	6440	SO:0001583	missense	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.468G>T	10.37:g.96331177G>T	ENSP00000239027:p.Lys156Asn			Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K156N	ENST00000348459.5	37	c.468	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	G	0.605	-0.827478	0.02734	.	.	ENSG00000119969	ENST00000419900;ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	T;T;D;T	0.96136	0.39;0.39;-3.92;0.39	4.32	2.39	0.29439	.	1.269340	0.05139	N	0.493907	D	0.89030	0.6599	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.33477	0.191;0.032;0.005;0.413;0.0	B;B;B;B;B	0.31869	0.043;0.021;0.002;0.137;0.001	T	0.79955	-0.1585	10	0.20046	T	0.44	-1.6951	6.2654	0.20924	0.1854:0.1549:0.6597:0.0	.	140;156;156;156;156	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	N	140;156;156;156;156	ENSP00000239027:K156N;ENSP00000377609:K156N;ENSP00000377608:K156N;ENSP00000360383:K156N	ENSP00000239027:K156N	K	+	3	2	HELLS	96321167	1.000000	0.71417	0.992000	0.48379	0.058000	0.15608	0.607000	0.24209	0.935000	0.37341	-0.208000	0.12717	AAG	HELLS	-	NULL	ENSG00000119969		0.254	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	-	0	46	0	G	NM_018063		96331177	1	tier1	-	no_errors	ENST00000371332	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.998	T	T	96331177	G	T	96331177	3	4	24	1	0	0	0	0	1	0	0	0	7073	991	35	3	494	3	HELLS	10	96331177	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	10368416	96331177	39203570	85	6250											
SLIT1	6585	genome.wustl.edu	37	chr10	98799826	98799826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaccacggtgtccaggcagGcgcactcctgtgggcactgt	6	7	15	13	2	0	0	0	0	0	0	2	1	2	1	3	5	0	3	3	5	0	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr10:98799826G>A	ENST00000266058.4	-	21	2461	c.2216C>T	c.(2215-2217)gCc>gTc	p.A739V	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A739V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	739	LRRNT 4.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTCCAGGCAGGCGCACTCCTG	0.657																																																	0													42	38	40					10																	98799826		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2216C>T	10.37:g.98799826G>A	ENSP00000266058:p.Ala739Val		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.A739V	ENST00000266058.4	37	c.2216	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043180	0.75732	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;D	0.95588	-3.75;-3.75;-3.75	5.11	5.11	0.69529	Leucine-rich repeat-containing N-terminal (2);	0.205916	0.50627	D	0.000115	D	0.90659	0.7070	N	0.10664	0.02	0.80722	D	1	B;B	0.28128	0.084;0.201	B;B	0.31442	0.052;0.13	D	0.88865	0.3329	10	0.87932	D	0	.	18.7361	0.91755	0.0:0.0:1.0:0.0	.	749;739	E7EWQ8;O75093	.;SLIT1_HUMAN	V	739;749;739;732	ENSP00000266058:A739V;ENSP00000360109:A739V;ENSP00000315005:A732V	ENSP00000266058:A739V	A	-	2	0	SLIT1	98789816	1.000000	0.71417	0.983000	0.44433	0.836000	0.47400	7.423000	0.80229	2.657000	0.90304	0.655000	0.94253	GCC	SLIT1	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000187122		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0	35	0	G	NM_003061		98799826	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A	A	98799826	G	A	98799826	3	1	24	1	0	0	0	0	1	0	0	0	14784	1203	42	3	2456	3	SLIT1	10	98799826	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	2468649	98799826	36734921	86	6251											
CPXM2	119587	genome.wustl.edu	37	chr10	125530495	125530495	+	Frame_Shift_Del	DEL	T	T	-																															cagcttcaggccctggtggcTttttccaatgttgtaaattc																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr10:125530495delT	ENST00000241305.3	-	8	1193	c.1039delA	c.(1039-1041)agcfs	p.S347fs	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCCTGGTGGCTTTTTCCAATG	0.458																																																	0													279	287	284					10																	125530495		2203	4300	6503	SO:0001589	frameshift_variant	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1039delA	10.37:g.125530495delT	ENSP00000241305:p.Ser347fs		B4E3Q2	Frame_Shift_Del	DEL	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.S347fs	ENST00000241305.3	37	c.1039	CCDS7637.1	10																																																																																			CPXM2	-	pfam_Peptidase_M14,prints_Peptidase_M14	ENSG00000121898		0.458	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1		0	44	0	T	NM_198148		125530495	-1	tier1		no_errors	ENST00000241305	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	125530495	T	-	125530495	7	5	24	1	0	1	0	1	0	0	0	0	3845	1609	56	0	1259	0	CPXM2	10	125530495	Frame_Shift_Del	DEL	T	TCGA-IG-A50L-01A-11D-A27G-09	26730669	125530495	10004252	87	6252											
MUC2	4583	genome.wustl.edu	37	chr11	1093845	1093845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgagatgaccagcacGgccccaccctccacacccac	10	4	7	20	1	0	2	0	2	0	1	1	3	1	2	7	1	1	1	7	1	0	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:1093845G>A	ENST00000441003.2	+	30	5691	c.5664G>A	c.(5662-5664)acG>acA	p.T1888T	MUC2_ENST00000333592.6_Silent_p.T176T|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4250					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGACCAGCACGGCCCCACCCT	0.637																																																	0													119	154	142					11																	1093845		2185	4275	6460	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5664G>A	11.37:g.1093845G>A			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1888	ENST00000441003.2	37	c.5664		11																																																																																			MUC2	-	NULL	ENSG00000198788		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	23	0	G	NM_002457		1093845	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	43.48	13	10	SNP	0.000	A	A	1093845	G	A	1093845	2	1	24	1	0	0	0	0	0	0	0	1	10013	1103	39	1		1	MUC2	11	1093845	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09		1093845	133912671	88	6253											
NLRP14	338323	genome.wustl.edu	37	chr11	7064621	7064621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcttgggttaactcaatCtgatgtctctagttttatgg	9	16	10	6	0	3	1	1	1	2	0	4	1	3	1	0	3	1	3	0	3	5	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:7064621C>G	ENST00000299481.4	+	4	1710	c.1364C>G	c.(1363-1365)tCt>tGt	p.S455C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	455	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTAACTCAATCTGATGTCTCT	0.423																																																	0													120	124	122					11																	7064621		2201	4296	6497	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1364C>G	11.37:g.7064621C>G	ENSP00000299481:p.Ser455Cys		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S455C	ENST00000299481.4	37	c.1364	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	C	1.336	-0.595479	0.03771	.	.	ENSG00000158077	ENST00000299481	D	0.84442	-1.85	4.34	-3.94	0.04130	.	1.409870	0.04626	N	0.402789	D	0.82513	0.5053	M	0.82132	2.575	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65693	-0.6106	10	0.62326	D	0.03	.	3.2897	0.06944	0.4344:0.164:0.3152:0.0864	.	455	Q86W24	NAL14_HUMAN	C	455	ENSP00000299481:S455C	ENSP00000299481:S455C	S	+	2	0	NLRP14	7021197	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.592000	0.05747	-0.471000	0.06891	-0.895000	0.02911	TCT	NLRP14	-	NULL	ENSG00000158077		0.423	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0	36	0	C	NM_176822		7064621	1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	G	G	7064621	C	G	7064621	3	3	24	1	0	0	0	0	1	0	0	0	10515	913	32	5	1374	5	NLRP14	11	7064621	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	5970776	7064621	127941895	89	6254											
NUP160	23279	genome.wustl.edu	37	chr11	47837042	47837042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttacttttttcagcaGgcacaccatgtttgtgtgtg	7	16	8	10	0	2	0	2	0	0	0	2	0	2	0	1	1	2	3	1	1	1	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:47837042G>A	ENST00000378460.2	-	13	1721	c.1675C>T	c.(1675-1677)Ctg>Ttg	p.L559L	NUP160_ENST00000528501.1_Silent_p.L123L|NUP160_ENST00000528071.1_Silent_p.L445L|NUP160_ENST00000530326.1_Silent_p.L445L|NUP160_ENST00000531016.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	559					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTTTTCAGCAGGCACACCATG	0.418																																																	0													135	121	125					11																	47837042		2201	4298	6499	SO:0001819	synonymous_variant	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.1675C>T	11.37:g.47837042G>A			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	pfam_Nucleoporin_Nup160	p.L559	ENST00000378460.2	37	c.1675	CCDS31484.1	11																																																																																			NUP160	-	pfam_Nucleoporin_Nup160	ENSG00000030066		0.418	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	-	0	26	0	G	NM_015231		47837042	-1	tier1	-	no_errors	ENST00000378460	ensembl	human	known	74_37	silent	21.21	26	7	SNP	1.000	A	A	47837042	G	A	47837042	2	1	24	1	0	0	0	0	0	0	0	1	10796	991	35	3		3	NUP160	11	47837042	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	40772421	47837042	87169474	90	6255											
NUP160	23279	genome.wustl.edu	37	chr11	47861526	47861526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggagatattccaggtactGctggaattaactgatagttg	12	13	11	5	0	0	2	0	1	0	1	1	4	1	3	1	3	3	3	1	3	6	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:47861526G>T	ENST00000378460.2	-	4	663	c.617C>A	c.(616-618)gCa>gAa	p.A206E	NUP160_ENST00000532747.1_Intron|NUP160_ENST00000530326.1_Missense_Mutation_p.A92E|NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000528071.1_Missense_Mutation_p.A92E	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	206					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCCAGGTACTGCTGGAATTAA	0.463																																																	0													115	110	112					11																	47861526		2201	4298	6499	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.617C>A	11.37:g.47861526G>T	ENSP00000367721:p.Ala206Glu		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.A206E	ENST00000378460.2	37	c.617	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620048	0.14193	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.41065	1.01;1.01;1.01	5.44	4.52	0.55395	.	0.846890	0.10827	N	0.629757	T	0.34600	0.0903	L	0.44542	1.39	0.09310	N	0.999999	B	0.19445	0.036	B	0.30716	0.119	T	0.39702	-0.9601	10	0.02654	T	1	.	11.1197	0.48281	0.0737:0.1361:0.7902:0.0	.	206	Q12769	NU160_HUMAN	E	206;92;92	ENSP00000367721:A206E;ENSP00000433590:A92E;ENSP00000432367:A92E	ENSP00000367721:A206E	A	-	2	0	NUP160	47818102	0.006000	0.16342	0.939000	0.37840	0.846000	0.48090	1.038000	0.30254	2.551000	0.86045	0.655000	0.94253	GCA	NUP160	-	pfam_Nucleoporin_Nup160	ENSG00000030066		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2		0	32	0	G	NM_015231		47861526	-1			no_errors	ENST00000378460	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.006	T	T	47861526	G	T	47861526	3	4	24	1	0	0	0	0	1	0	0	0	10796	1319	46	3	3825	3	NUP160	11	47861526	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	24484	47861526	87144990	91	6256											
OR4C46	119749	genome.wustl.edu	37	chr11	51515287	51515287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatgagaaatacatggaGaataggaataacatgacaga	20	7	9	5	0	1	4	1	2	0	3	1	7	1	5	0	2	2	0	0	2	6	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:51515287G>T	ENST00000328188.1	+	1	6	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATACATGGAGAATAGGAATA	0.274																																																	0													105	101	102					11																	51515287		2201	4296	6497	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.6G>T	11.37:g.51515287G>T	ENSP00000329056:p.Glu2Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E2D	ENST00000328188.1	37	c.6	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	5.684	0.310685	0.10733	.	.	ENSG00000185926	ENST00000328188	T	0.00456	7.3	2.44	-2.21	0.06973	.	0.224693	0.22250	U	0.062572	T	0.00241	0.0007	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44283	-0.9338	10	0.48119	T	0.1	.	4.5526	0.12120	0.5769:0.189:0.2341:0.0	.	2	A6NHA9	O4C46_HUMAN	D	2	ENSP00000329056:E2D	ENSP00000329056:E2D	E	+	3	2	OR4C46	51371863	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.436000	0.02421	-0.361000	0.08125	0.134000	0.15878	GAG	OR4C46	-	NULL	ENSG00000185926		0.274	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1		0	35	0	G	NM_001004703		51515287	1			no_errors	ENST00000328188	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.017	T	T	51515287	G	T	51515287	3	4	24	1	0	0	0	0	1	0	0	0	11090	933	33	3	8	3	OR4C46	11	51515287	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	3653761	51515287	83491229	92	6257											
OR5T1	390155	genome.wustl.edu	37	chr11	56043679	56043679	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccaatgaaattaggcatGtcttttgtaatatgcctcct	11	15	7	8	0	1	1	0	1	1	0	3	2	3	1	3	1	1	2	3	1	5	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:56043679G>C	ENST00000313033.2	+	1	651	c.565G>C	c.(565-567)Gtc>Ctc	p.V189L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AATTAGGCATGTCTTTTGTAA	0.403																																																	0													246	230	236					11																	56043679		2201	4296	6497	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.565G>C	11.37:g.56043679G>C	ENSP00000323612:p.Val189Leu		B2RNM9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V189L	ENST00000313033.2	37	c.565	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417775	0.25552	.	.	ENSG00000181698	ENST00000313033	T	0.00063	8.78	3.44	-3.58	0.04597	GPCR, rhodopsin-like superfamily (1);	0.478727	0.17402	N	0.175494	T	0.00073	0.0002	N	0.02539	-0.55	0.09310	N	1	B	0.27166	0.17	B	0.33121	0.158	T	0.28933	-1.0028	10	0.87932	D	0	.	8.4601	0.32923	0.0945:0.0:0.1957:0.7098	.	189	Q8NG75	OR5T1_HUMAN	L	189	ENSP00000323612:V189L	ENSP00000323612:V189L	V	+	1	0	OR5T1	55800255	0.000000	0.05858	0.004000	0.12327	0.048000	0.14542	-0.448000	0.06820	-0.411000	0.07530	-0.571000	0.04153	GTC	OR5T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181698		0.403	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	-	0	92	0	G	NM_001004745		56043679	1	tier1	-	no_errors	ENST00000313033	ensembl	human	known	74_37	missense	19.23	83	20	SNP	0.000	C	C	56043679	G	C	56043679	3	2	24	1	0	0	0	0	1	0	0	0	11220	1377	48	5	567	5	OR5T1	11	56043679	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	4528392	56043679	78962837	93	6258											
OR5M8	219484	genome.wustl.edu	37	chr11	56258778	56258778	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagcgtgaagaggagaatTtgtaattcccggcgactggt	12	9	13	7	3	0	3	0	1	0	2	1	5	1	3	1	3	2	1	1	3	4	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:56258778T>A	ENST00000327216.2	-	1	93	c.69A>T	c.(67-69)caA>caT	p.Q23H		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGAGGAGAATTTGTAATTCCC	0.502																																																	0													88	92	91					11																	56258778		2201	4296	6497	SO:0001583	missense	0			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.69A>T	11.37:g.56258778T>A	ENSP00000323354:p.Gln23His		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q23H	ENST00000327216.2	37	c.69	CCDS31533.1	11	.	.	.	.	.	.	.	.	.	.	T	11.77	1.737827	0.30774	.	.	ENSG00000181371	ENST00000327216	T	0.00601	6.29	4.13	1.13	0.20643	.	0.000000	0.30949	U	0.008557	T	0.00754	0.0025	M	0.64170	1.965	0.22017	N	0.999412	B	0.18166	0.026	B	0.20767	0.031	T	0.43956	-0.9359	10	0.66056	D	0.02	-4.4222	8.1658	0.31226	0.0:0.7077:0.0:0.2923	.	23	Q8NGP6	OR5M8_HUMAN	H	23	ENSP00000323354:Q23H	ENSP00000323354:Q23H	Q	-	3	2	OR5M8	56015354	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.088000	0.11198	-0.005000	0.14395	-1.610000	0.00802	CAA	OR5M8	-	NULL	ENSG00000181371		0.502	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	HGNC	protein_coding	OTTHUMT00000391641.1		0	22	0	T	NM_001005282		56258778	-1			no_errors	ENST00000327216	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.380	A	A	56258778	T	A	56258778	3	1	24	1	0	0	0	0	1	0	0	0	11215	1838	64	5	870	5	OR5M8	11	56258778	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	215099	56258778	78747738	94	6259											
MS4A12	54860	genome.wustl.edu	37	chr11	60268516	60268516	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctgttttcttttttcAggtgatccagatcatggttg	7	18	10	6	0	3	2	2	1	1	1	4	2	4	2	1	3	0	3	1	3	1	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:60268516A>G	ENST00000016913.4	+	3	333		c.e3-1		MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12							integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTCTTTTTTCAGGTGATCCAG	0.348																																																	0													248	248	248					11																	60268516		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.277-1A>G	11.37:g.60268516A>G			F5GX98|Q8N6L4	Splice_Site	SNP	-	e2-2	ENST00000016913.4	37	c.277-2	CCDS7988.1	11	.	.	.	.	.	.	.	.	.	.	A	13.48	2.250980	0.39797	.	.	ENSG00000071203	ENST00000016913;ENST00000530007	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3274	0.49456	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A12	60025092	1.000000	0.71417	0.975000	0.42487	0.514000	0.34195	4.477000	0.60223	1.923000	0.55706	0.379000	0.24179	.	MS4A12	-	-	ENSG00000071203		0.348	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A12	HGNC	protein_coding	OTTHUMT00000383627.1	-	0	75	0	A		Intron	60268516	1	tier1	-	no_errors	ENST00000016913	ensembl	human	known	74_37	splice_site	5.19	73	4	SNP	0.990	G	G	60268516	A	G	60268516	5	3	24	1	0	0	0	0	0	0	1	0	9894	202	7	4	281	4	MS4A12	11	60268516	Splice_Site	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	4009738	60268516	74738000	95	6260											
MS4A10	341116	genome.wustl.edu	37	chr11	60559760	60559760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatttcagggatcttggCgataacaatgaagacctttt	11	14	8	8	1	3	2	2	1	2	1	4	4	3	3	1	2	1	0	1	2	3	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:60559760C>T	ENST00000308287.1	+	4	422	c.326C>T	c.(325-327)gCg>gTg	p.A109V		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	109						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GGGATCTTGGCGATAACAATG	0.453																																																	0													193	176	182					11																	60559760		2203	4300	6503	SO:0001583	missense	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.326C>T	11.37:g.60559760C>T	ENSP00000311862:p.Ala109Val		B2RP45|Q96PG3	Missense_Mutation	SNP	pfam_CD20-like	p.A109V	ENST00000308287.1	37	c.326	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	C	8.984	0.976139	0.18736	.	.	ENSG00000172689	ENST00000308287	T	0.02606	4.23	3.15	1.17	0.20885	.	0.486738	0.15413	N	0.263649	T	0.03390	0.0098	L	0.57536	1.79	0.09310	N	1	B	0.18863	0.031	B	0.15870	0.014	T	0.36792	-0.9733	10	0.42905	T	0.14	-8.7409	4.9663	0.14093	0.0:0.6924:0.0:0.3076	.	109	Q96PG2	M4A10_HUMAN	V	109	ENSP00000311862:A109V	ENSP00000311862:A109V	A	+	2	0	MS4A10	60316336	0.003000	0.15002	0.004000	0.12327	0.307000	0.27823	-0.017000	0.12590	0.312000	0.23038	0.555000	0.69702	GCG	MS4A10	-	pfam_CD20-like	ENSG00000172689		0.453	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1	-	0	52	0	C	NM_206893		60559760	1	tier1	-	no_errors	ENST00000308287	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.004	T	T	60559760	C	T	60559760	3	4	24	1	0	0	0	0	1	0	0	0	9893	768	27	1	336	1	MS4A10	11	60559760	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	291244	60559760	74446756	96	6261											
SLC22A9	114571	genome.wustl.edu	37	chr11	63149670	63149671	+	Frame_Shift_Ins	INS	-	-	A																															aaaagaactggaggcagcacINSaaaaaaaaaaaccttctctg																								rs564236291|rs78765214|rs76547355|rs568732086|rs201804022	byFrequency	TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:63149670_63149671insA	ENST00000279178.3	+	6	1243_1244	c.994_995insA	c.(994-996)caafs	p.Q332fs	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	332					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGAGGCAGCACAAAAAAAAAAA	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"Solute carriers"	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1005dupA	11.37:g.63149681_63149681dupA	ENSP00000279178:p.Gln332fs		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Frame_Shift_Ins	INS	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K336fs	ENST00000279178.3	37	c.994_995	CCDS8043.1	11																																																																																			SLC22A9	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000149742		0.401	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1		0	45	0	-	NM_080866		63149671	1	tier1		no_errors	ENST00000279178	ensembl	human	known	74_37	frame_shift_ins	10.00	36	4	INS	0.001:0.005	A	A	63149671	-	A	63149670	7	5	24	1	0	1	1	0	0	0	0	0	14506	479	17	0	1016	0	SLC22A9	11	63149670	Frame_Shift_Ins	INS	-	TCGA-IG-A50L-01A-11D-A27G-09	2589910	63149670	71856846	97	6262											
FLRT1	28992	genome.wustl.edu	37	chr11	63885526	63885526	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacaaccggggcagcaggaAaaaggatgactatatggagt	15	6	13	7	1	0	1	0	1	0	0	0	4	0	4	1	5	3	2	1	5	6	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:63885526A>C	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.K596T	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GGCAGCAGGAAAAAGGATGAC	0.617																																																	0													41	41	41					11																	63885526		2201	4297	6498	SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+33184T>G	11.37:g.63885526A>C			Q9UH96	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.K596T	ENST00000255681.6	37	c.1787	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	A	8.884	0.952245	0.18431	.	.	ENSG00000126500	ENST00000246841	T	0.54279	0.58	5.03	2.61	0.31194	.	0.315265	0.31612	N	0.007347	T	0.40119	0.1104	L	0.36672	1.1	0.30558	N	0.76479	B	0.19445	0.036	B	0.15052	0.012	T	0.41288	-0.9517	10	0.87932	D	0	-6.2658	9.0035	0.36097	0.8413:0.0:0.1587:0.0	.	568	Q9NZU1	FLRT1_HUMAN	T	596	ENSP00000246841:K596T	ENSP00000246841:K596T	K	+	2	0	FLRT1	63642102	1.000000	0.71417	0.993000	0.49108	0.563000	0.35712	3.549000	0.53681	0.318000	0.23185	0.459000	0.35465	AAA	FLRT1	-	NULL	ENSG00000126500		0.617	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1	-	0	29	0	A	NM_014067		63885526	1	tier1	-	no_errors	ENST00000246841	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.978	C	C	63885526	A	C	63885526	1	2	24	0	1	0	0	0	0	0	0	0	5960	14	1	4		4	FLRT1	11	63885526	Intron	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	735856	63885526	71120990	98	6263											
ESRRA	2101	genome.wustl.edu	37	chr11	64081712	64081713	+	Splice_Site	INS	-	-	GTGC																															tctgtcccacaattcaaggaINSgtgcgcctggaccgcgtccg																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:64081712_64081713insGTGC	ENST00000405666.1	+	4	678_679	c.444_445insGTGC	c.(445-447)gtg>GTGCgtg	p.-150fs	ESRRA_ENST00000000442.6_Splice_Site_p.-150fs|ESRRA_ENST00000406310.1_Splice_Site_p.-150fs	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha						cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CAATTCAAGGAGTGCGCCTGGA	0.673																																																	0																																										SO:0001630	splice_region_variant	0			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"Nuclear hormone receptors"	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.443-1->GTGC	11.37:g.64081713_64081716dupGTGC			Q14514	Frame_Shift_Ins	INS	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L150fs	ENST00000405666.1	37	c.444_445	CCDS41667.1	11																																																																																			ESRRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	ENSG00000173153		0.673	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ESRRA	HGNC	protein_coding	OTTHUMT00000319304.1		0	35	0	-	NM_004451	Frame_Shift_Ins	64081713	1	tier1		no_errors	ENST00000000442	ensembl	human	known	74_37	frame_shift_ins	24.44	34	11	INS	0.995:1.000	GTGC	GTGC	64081713	-	GTGC	64081712	8	5	24	1	0	1	1	0	0	0	1	0	5276	318	11	0	454	0	ESRRA	11	64081712	Splice_Site	INS	-	TCGA-IG-A50L-01A-11D-A27G-09	196186	64081712	70924804	99	6264											
FRMD8	83786	genome.wustl.edu	37	chr11	65154535	65154535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaaggcagtgccgggCagcccggccccgctgagcga	8	2	17	14	4	0	2	0	1	0	1	0	4	0	3	4	4	3	3	4	4	1	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:65154535C>A	ENST00000317568.5	+	2	191	c.28C>A	c.(28-30)Cag>Aag	p.Q10K	FRMD8_ENST00000531296.1_Missense_Mutation_p.Q10K|FRMD8_ENST00000355991.5_Missense_Mutation_p.Q10K|FRMD8_ENST00000416776.2_Missense_Mutation_p.Q10K	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	10						cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CAGTGCCGGGCAGCCCGGCCC	0.667																																																	0													73	84	80					11																	65154535		2200	4297	6497	SO:0001583	missense	0			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.28C>A	11.37:g.65154535C>A	ENSP00000319726:p.Gln10Lys		B4E2P1|Q86V56|Q8NCB5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.Q10K	ENST00000317568.5	37	c.28	CCDS8102.1	11	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199393	0.38806	.	.	ENSG00000126391	ENST00000317568;ENST00000531296;ENST00000533782;ENST00000355991;ENST00000416776;ENST00000526201;ENST00000525156	D;T;T;D	0.82433	-1.59;-1.19;-1.17;-1.61	5.05	5.05	0.67936	.	0.181255	0.33327	N	0.005029	T	0.75715	0.3887	L	0.36672	1.1	0.27929	N	0.937938	B;B;B	0.19817	0.039;0.027;0.016	B;B;B	0.21917	0.037;0.017;0.011	T	0.63337	-0.6660	10	0.24483	T	0.36	-12.3562	14.2707	0.66149	0.0:1.0:0.0:0.0	.	10;10;10	B4E2P1;Q9BZ67-2;Q9BZ67	.;.;FRMD8_HUMAN	K	10	ENSP00000319726:Q10K;ENSP00000435913:Q10K;ENSP00000348270:Q10K;ENSP00000392111:Q10K	ENSP00000319726:Q10K	Q	+	1	0	FRMD8	64911111	0.998000	0.40836	0.996000	0.52242	0.460000	0.32559	3.777000	0.55364	2.537000	0.85549	0.561000	0.74099	CAG	FRMD8	-	NULL	ENSG00000126391		0.667	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD8	HGNC	protein_coding	OTTHUMT00000388833.1	-	0	75	0	C	NM_031904		65154535	1	tier1	-	no_errors	ENST00000317568	ensembl	human	known	74_37	missense	13.95	74	12	SNP	0.988	A	A	65154535	C	A	65154535	3	1	24	1	0	0	0	0	1	0	0	0	6080	711	25	3	30	3	FRMD8	11	65154535	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	1072823	65154535	69851981	100	6265											
GAB2	9846	genome.wustl.edu	37	chr11	77934560	77934560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgatgggtagccaaGtgagtcaaagtgatgggccc	9	10	16	6	0	1	3	1	3	0	0	1	3	1	3	2	3	1	3	2	3	3	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:77934560G>T	ENST00000361507.4	-	6	1550	c.1465C>A	c.(1465-1467)Ctt>Att	p.L489I	GAB2_ENST00000340149.2_Missense_Mutation_p.L451I	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	489					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGTAGCCAAGTGAGTCAAAG	0.557																																																	0													216	205	209					11																	77934560		2200	4292	6492	SO:0001583	missense	0			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"Pleckstrin homology (PH) domain containing"	14458	protein-coding gene	gene with protein product	"Grb2-associated binder 2"	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1465C>A	11.37:g.77934560G>T	ENSP00000354952:p.Leu489Ile		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L489I	ENST00000361507.4	37	c.1465	CCDS8259.1	11	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126493	0.56721	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.15718	2.4;2.62	5.49	5.49	0.81192	.	0.271361	0.30940	U	0.008578	T	0.10937	0.0267	L	0.28458	0.855	0.33324	D	0.567662	P	0.35077	0.483	B	0.18871	0.023	T	0.18871	-1.0323	10	0.19147	T	0.46	-11.6519	14.7533	0.69543	0.0:0.1552:0.8448:0.0	.	489	Q9UQC2	GAB2_HUMAN	I	451;489	ENSP00000343959:L451I;ENSP00000354952:L489I	ENSP00000343959:L451I	L	-	1	0	GAB2	77612208	1.000000	0.71417	0.053000	0.19242	0.995000	0.86356	4.237000	0.58681	2.583000	0.87209	0.561000	0.74099	CTT	GAB2	-	NULL	ENSG00000033327		0.557	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	HGNC	protein_coding	OTTHUMT00000391085.1	-	0	66	0	G	NM_080491		77934560	-1	tier1	-	no_errors	ENST00000361507	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.697	T	T	77934560	G	T	77934560	3	4	24	1	0	0	0	0	1	0	0	0	6173	1029	36	3	585	3	GAB2	11	77934560	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	12780025	77934560	57071956	101	6266											
NOX4	50507	genome.wustl.edu	37	chr11	89223663	89223663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgatactctggccctTggttatacagcaagaaggtt	10	12	12	7	0	1	2	0	1	1	1	1	2	1	2	1	4	3	4	1	4	6	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:89223663T>C	ENST00000263317.4	-	2	354	c.116A>G	c.(115-117)cAa>cGa	p.Q39R	NOX4_ENST00000528341.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.Q15R|NOX4_ENST00000531342.1_Missense_Mutation_p.Q39R|NOX4_ENST00000532825.1_Missense_Mutation_p.Q15R|NOX4_ENST00000535633.1_Missense_Mutation_p.Q15R|NOX4_ENST00000534731.1_Missense_Mutation_p.Q39R|NOX4_ENST00000393282.2_Missense_Mutation_p.Q39R|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000343727.5_Missense_Mutation_p.Q15R|NOX4_ENST00000527956.1_Missense_Mutation_p.Q15R|NOX4_ENST00000375979.3_Missense_Mutation_p.Q39R|NOX4_ENST00000424319.1_Missense_Mutation_p.Q15R|NOX4_ENST00000525196.1_Missense_Mutation_p.Q39R|NOX4_ENST00000413594.2_Missense_Mutation_p.Q60R			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	39					bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTCTGGCCCTTGGTTATACAG	0.428																																																	0													140	135	137					11																	89223663		2201	4299	6500	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.116A>G	11.37:g.89223663T>C	ENSP00000263317:p.Gln39Arg		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.Q60R	ENST00000263317.4	37	c.179	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514245	0.44763	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000413594;ENST00000531342;ENST00000375979;ENST00000393282	D;D;D;D;D;D;D;D;D;D;D;D	0.95103	-3.55;-3.55;-3.55;-3.5;-3.55;-3.45;-3.61;-3.55;-3.55;-3.56;-2.99;-2.94	5.23	4.11	0.48088	.	0.505173	0.20230	N	0.096498	D	0.91848	0.7420	N	0.12746	0.255	0.28367	N	0.920207	B;B;P;P;B;B	0.48294	0.0;0.0;0.908;0.908;0.0;0.0	B;B;P;P;B;B	0.61397	0.001;0.001;0.888;0.888;0.002;0.0	D	0.85118	0.0967	9	.	.	.	-3.4037	7.6576	0.28383	0.0:0.0963:0.0:0.9037	.	15;39;39;39;39;39	E9PMY6;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	R	15;15;15;39;39;39;15;15;15;60;39;39;39	ENSP00000412446:Q15R;ENSP00000440172:Q15R;ENSP00000344747:Q15R;ENSP00000436892:Q39R;ENSP00000436716:Q39R;ENSP00000263317:Q39R;ENSP00000434924:Q15R;ENSP00000433797:Q15R;ENSP00000439373:Q15R;ENSP00000405705:Q60R;ENSP00000435039:Q39R;ENSP00000365146:Q39R	.	Q	-	2	0	NOX4	88863311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	0.846000	0.35142	0.379000	0.24179	CAA	NOX4	-	NULL	ENSG00000086991		0.428	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	-	0	55	0	T	NM_016931		89223663	-1	tier1	-	no_errors	ENST00000413594	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	C	C	89223663	T	C	89223663	3	2	24	1	0	0	0	0	1	0	0	0	10597	1812	63	4	1688	4	NOX4	11	89223663	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	11289103	89223663	45782853	102	6267											
FAT3	120114	genome.wustl.edu	37	chr11	92590461	92590461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtcagttatgaagccaGcaggagaccgttcctctgcc	8	10	12	11	1	2	2	1	1	1	1	3	3	3	2	4	1	3	3	4	1	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:92590461G>A	ENST00000298047.6	+	19	11464	c.11447G>A	c.(11446-11448)aGc>aAc	p.S3816N	FAT3_ENST00000525166.1_Missense_Mutation_p.S3666N|FAT3_ENST00000533797.1_Missense_Mutation_p.S151N|FAT3_ENST00000409404.2_Missense_Mutation_p.S3816N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3816	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATGAAGCCAGCAGGAGACCG	0.532										TCGA Ovarian(4;0.039)																																							0													114	122	119					11																	92590461		2032	4198	6230	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11447G>A	11.37:g.92590461G>A	ENSP00000298047:p.Ser3816Asn		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S3816N	ENST00000298047.6	37	c.11447		11	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116562	0.37339	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.95	5.03	0.67393	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.34890	0.0913	L	0.61218	1.895	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.08868	-1.0701	9	0.34782	T	0.22	.	11.0343	0.47791	0.1518:0.0:0.8482:0.0	.	3816;3816	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	N	3816;3816;3666;151	ENSP00000298047:S3816N;ENSP00000387040:S3816N;ENSP00000432586:S3666N;ENSP00000436399:S151N	ENSP00000298047:S3816N	S	+	2	0	FAT3	92230109	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.493000	0.45320	2.824000	0.97209	0.655000	0.94253	AGC	FAT3	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000165323		0.532	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	34	0	G	NM_001008781		92590461	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	A	A	92590461	G	A	92590461	3	1	24	1	0	0	0	0	1	0	0	0	5713	971	34	3	11521	3	FAT3	11	92590461	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	3366798	92590461	42416055	103	6268											
CCDC82	79780	genome.wustl.edu	37	chr11	96104185	96104185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaactgtgtaccttatattGctctttccaacgacttctag	10	15	5	11	1	2	0	0	0	2	0	3	1	3	0	2	0	4	2	2	0	6	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:96104185G>A	ENST00000278520.5	-	6	1629	c.1201C>T	c.(1201-1203)Caa>Taa	p.Q401*	CCDC82_ENST00000542662.1_Nonsense_Mutation_p.Q401*|CCDC82_ENST00000423339.2_Nonsense_Mutation_p.Q401*			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	401										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ACCTTATATTGCTCTTTCCAA	0.383																																																	0													84	86	85					11																	96104185		2201	4298	6499	SO:0001587	stop_gained	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1201C>T	11.37:g.96104185G>A	ENSP00000278520:p.Gln401*		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Nonsense_Mutation	SNP	NULL	p.Q401*	ENST00000278520.5	37	c.1201	CCDS8307.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.140967	0.98672	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339	.	.	.	5.76	2.79	0.32731	.	0.297363	0.30830	N	0.008797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-4.2017	9.0051	0.36106	0.0704:0.0:0.6662:0.2634	.	.	.	.	X	401	.	ENSP00000278520:Q401X	Q	-	1	0	CCDC82	95743833	0.648000	0.27313	0.412000	0.26496	0.912000	0.54170	2.607000	0.46300	0.322000	0.23283	0.585000	0.79938	CAA	CCDC82	-	NULL	ENSG00000149231		0.383	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	-	0	62	0	G	NM_024725		96104185	-1	tier1	-	no_errors	ENST00000278520	ensembl	human	known	74_37	nonsense	8.93	51	5	SNP	0.233	A	A	96104185	G	A	96104185	4	1	24	1	0	0	0	0	0	1	0	0	2863	1328	46	3	449	3	CCDC82	11	96104185	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	3513724	96104185	38902331	104	6269											
CASP1	834	genome.wustl.edu	37	chr11	104901182	104901182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaaattcttcattgcagaTaatgagagcaagacgtgtgc	13	11	10	7	1	3	3	2	1	1	3	3	4	3	3	0	0	3	2	0	0	3	4	rs376117763		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:104901182T>C	ENST00000533400.1	-	5	537	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	CASP1_ENST00000527979.1_Missense_Mutation_p.I131V|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.I168V|CASP1_ENST00000526568.1_Missense_Mutation_p.I75V|CASP1_ENST00000594519.1_Missense_Mutation_p.I75V|CASP1_ENST00000393136.4_Missense_Mutation_p.I147V|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000534497.1_Missense_Mutation_p.I75V|CASP1_ENST00000436863.3_Missense_Mutation_p.I168V|CASP1_ENST00000528974.1_Missense_Mutation_p.I129V|CASP1_ENST00000525825.1_Missense_Mutation_p.I147V|CASP1_ENST00000593315.1_Missense_Mutation_p.I147V|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000446369.1_Missense_Mutation_p.I75V	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	168					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TCATTGCAGATAATGAGAGCA	0.398																																					NSCLC(41;1246 1743 4934)												0								T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,	0,4404		0,0,2202	132	115	121		439,502,223,223,	3.2	1	11		121	1,8597		0,1,4298	no	missense,missense,missense,missense,intron	CASP1	NM_001223.3,NM_033292.2,NM_033293.2,NM_033294.2,NM_033295.2	29,29,29,29,	0,1,6500	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,	147/384,168/405,75/312,75/264,	104901182	1,13001	2202	4299	6501	SO:0001583	missense	0			U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"Caspases"	1499	protein-coding gene	gene with protein product	"caspase-1", "interleukin 1, beta, convertase"	147678	"caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)", "caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.502A>G	11.37:g.104901182T>C	ENSP00000433138:p.Ile168Val		B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.I168V	ENST00000533400.1	37	c.502	CCDS8330.1	11	.	.	.	.	.	.	.	.	.	.	.	16.52	3.147400	0.57151	0.0	1.16E-4	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000446369;ENST00000393136;ENST00000525825;ENST00000534497;ENST00000528974	T;T;T;T;T;T;T;T;T;T	0.60424	1.33;1.33;1.33;1.33;1.33;0.19;1.33;1.33;0.19;1.33	4.37	3.24	0.37175	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.81112	2.525	0.46396	D	0.999026	D;D;D;D;D;D;D	0.76494	0.998;0.984;0.993;0.997;0.998;0.997;0.999	D;D;D;D;D;D;D	0.91635	0.994;0.971;0.958;0.995;0.997;0.995;0.999	T	0.73678	-0.3907	10	0.87932	D	0	.	8.0366	0.30496	0.0:0.0989:0.0:0.9011	.	129;75;168;147;168;131;75	B4DVD8;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	V	17;75;131;168;168;75;147;147;75;129	ENSP00000435536:I17V;ENSP00000434250:I75V;ENSP00000432340:I131V;ENSP00000433138:I168V;ENSP00000410076:I168V;ENSP00000403260:I75V;ENSP00000376844:I147V;ENSP00000434779:I147V;ENSP00000436875:I75V;ENSP00000434259:I129V	ENSP00000376844:I147V	I	-	1	0	CASP1	104406392	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	5.956000	0.70315	0.829000	0.34733	0.455000	0.32223	ATC	CASP1	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000137752		0.398	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CASP1	HGNC	protein_coding	OTTHUMT00000388116.1	-	0	29	0	T	NM_033292		104901182	-1	tier1	-	no_errors	ENST00000436863	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	C	C	104901182	T	C	104901182	3	2	24	1	0	0	0	0	1	0	0	0	2675	1406	49	4	732	4	CASP1	11	104901182	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	8796997	104901182	30105334	105	6270											
ATM	472	genome.wustl.edu	37	chr11	108196809	108196809	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaagggcaatatttcaaAttaaacagtacaattcagtt	17	12	6	6	0	2	1	2	1	0	0	2	1	2	1	0	1	2	3	0	1	8	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:108196809A>G	ENST00000452508.2	+	48	7021	c.6832A>G	c.(6832-6834)Att>Gtt	p.I2278V	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.I2278V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2278	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AATATTTCAAATTAAACAGTA	0.363			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													69	70	70					11																	108196809		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6832A>G	11.37:g.108196809A>G	ENSP00000388058:p.Ile2278Val		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I2278V	ENST00000452508.2	37	c.6832	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561607	0.86335	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70399	-0.48;-0.48	5.58	5.58	0.84498	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.041543	0.85682	D	0.000000	T	0.73337	0.3574	L	0.60455	1.87	0.80722	D	1	P	0.45240	0.854	P	0.46144	0.505	T	0.76817	-0.2819	10	0.66056	D	0.02	.	16.0489	0.80740	1.0:0.0:0.0:0.0	.	2278	Q13315	ATM_HUMAN	V	2278	ENSP00000278616:I2278V;ENSP00000388058:I2278V	ENSP00000278616:I2278V	I	+	1	0	ATM	107702019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.868000	0.92320	2.253000	0.74438	0.455000	0.32223	ATT	ATM	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000149311		0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0	30	0	A	NM_000051		108196809	1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	G	G	108196809	A	G	108196809	3	3	24	1	0	0	0	0	1	0	0	0	1110	101	4	4	7014	4	ATM	11	108196809	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	3295627	108196809	26809707	106	6271											
PCSK7	9159	genome.wustl.edu	37	chr11	117079693	117079693	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccaagctgccgcgccgTgggtgagtgatggagactgt	7	8	16	10	3	0	3	0	2	0	1	1	4	1	3	3	2	3	2	3	2	1	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr11:117079693T>A	ENST00000320934.3	-	13	2241	c.1611A>T	c.(1609-1611)ccA>ccT	p.P537P	PCSK7_ENST00000540028.1_Silent_p.P178P|PCSK7_ENST00000529458.1_5'Flank	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	537					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGCCGCGCCGTGGGTGAGTGA	0.622			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													37	37	37					11																	117079693		2201	4295	6496	SO:0001819	synonymous_variant	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1611A>T	11.37:g.117079693T>A			B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.P537	ENST00000320934.3	37	c.1611	CCDS8382.1	11																																																																																			PCSK7	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000160613		0.622	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	-	0	89	0	T	NM_004716		117079693	-1	tier1	-	no_errors	ENST00000320934	ensembl	human	known	74_37	silent	13.18	111	17	SNP	0.443	A	A	117079693	T	A	117079693	2	1	24	1	0	0	0	0	0	0	0	1	11644	1683	59	5		5	PCSK7	11	117079693	Silent	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	8882884	117079693	17926823	107	6272											
TSPAN9	10867	genome.wustl.edu	37	chr12	3390480	3390480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcgcaacgccaccacGcctttgtggagaacggtgag	8	6	15	12	5	0	2	0	1	0	1	0	3	0	2	3	3	3	1	3	3	2	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr12:3390480G>A	ENST00000011898.5	+	7	710	c.549G>A	c.(547-549)acG>acA	p.T183T	TSPAN9_ENST00000537971.1_Silent_p.T183T|TSPAN9_ENST00000407263.1_Silent_p.T183T	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	183						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			ACGCCACCACGCCTTTGTGGA	0.662																																																	0													26	20	22					12																	3390480		2057	3921	5978	SO:0001819	synonymous_variant	0			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.549G>A	12.37:g.3390480G>A			D3DUQ7|Q53FV2|Q6FGJ8	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T183	ENST00000011898.5	37	c.549	CCDS8520.1	12																																																																																			TSPAN9	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000011105		0.662	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN9	HGNC	protein_coding	OTTHUMT00000317606.2	-	0	29	0	G	NM_006675		3390480	1	tier1	-	no_errors	ENST00000011898	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.085	A	A	3390480	G	A	3390480	2	1	24	1	0	0	0	0	0	0	0	1	16702	1074	38	1		1	TSPAN9	12	3390480	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09		3390480	130461415	108	6273											
CAND1	55832	genome.wustl.edu	37	chr12	67705481	67705481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcctaatagatgctgacAtttttaatgttggtgagact	11	17	8	5	0	0	3	0	2	0	2	1	4	1	3	1	1	1	2	1	1	4	8			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr12:67705481A>G	ENST00000545606.1	+	14	3806	c.3369A>G	c.(3367-3369)acA>acG	p.T1123T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1123					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGATGCTGACATTTTTAATGT	0.348																																																	0													116	104	108					12																	67705481		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.3369A>G	12.37:g.67705481A>G			B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.T1123	ENST00000545606.1	37	c.3369	CCDS8977.1	12																																																																																			CAND1	-	pfam_TATA-bd_TIP120,superfamily_ARM-type_fold	ENSG00000111530		0.348	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	-	0	49	0	A	NM_018448		67705481	1	tier1	-	no_errors	ENST00000545606	ensembl	human	known	74_37	silent	16.98	44	9	SNP	1.000	G	G	67705481	A	G	67705481	2	3	24	1	0	0	0	0	0	0	0	1	2622	204	8	4		4	CAND1	12	67705481	Silent	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	64315001	67705481	66146414	109	6274											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72023435	72023435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaacaaggagaacagccatCtggtccattgacattcgatc	13	9	8	11	1	1	2	0	1	1	1	4	4	2	2	2	2	3	0	2	2	3	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr12:72023435C>G	ENST00000378743.3	-	19	4138	c.3780G>C	c.(3778-3780)caG>caC	p.Q1260H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1260					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAACAGCCATCTGGTCCATTG	0.343																																																	0													136	129	131					12																	72023435		1932	4122	6054	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.3780G>C	12.37:g.72023435C>G	ENSP00000368017:p.Gln1260His		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.Q1260H	ENST00000378743.3	37	c.3780	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917609	0.73098	.	.	ENSG00000133858	ENST00000378743	T	0.37584	1.19	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	T	0.44174	-0.9345	10	0.66056	D	0.02	.	11.0796	0.48051	0.0:0.8391:0.0:0.1609	.	1260	O60293	ZC3H1_HUMAN	H	1260	ENSP00000368017:Q1260H	ENSP00000368017:Q1260H	Q	-	3	2	ZFC3H1	70309702	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.197000	0.42696	1.361000	0.45981	0.591000	0.81541	CAG	ZFC3H1	-	NULL	ENSG00000133858		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1		0	39	0	C	NM_144982		72023435	-1			no_errors	ENST00000378743	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	G	G	72023435	C	G	72023435	3	3	24	1	0	0	0	0	1	0	0	0	17681	912	32	5	2257	5	ZFC3H1	12	72023435	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	4317954	72023435	61828460	110	6275											
NAV3	89795	genome.wustl.edu	37	chr12	78598799	78598799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcagcaactctgcctcagGagagcccagccttacttcag	9	8	9	15	0	4	1	3	0	1	1	4	2	4	1	3	1	6	2	3	1	2	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr12:78598799G>A	ENST00000397909.2	+	39	7092	c.6919G>A	c.(6919-6921)Gag>Aag	p.E2307K	NAV3_ENST00000541270.1_Missense_Mutation_p.E137K|NAV3_ENST00000228327.6_Missense_Mutation_p.E2285K|NAV3_ENST00000266692.7_Missense_Mutation_p.E2108K|NAV3_ENST00000536525.2_Missense_Mutation_p.E2285K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2307						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTGCCTCAGGAGAGCCCAGC	0.498										HNSCC(70;0.22)																																							0													74	76	75					12																	78598799		2051	4199	6250	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6919G>A	12.37:g.78598799G>A	ENSP00000381007:p.Glu2307Lys		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E2307K	ENST00000397909.2	37	c.6919		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.188574|3.188574	0.57909|0.57909	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270|ENST00000552895;ENST00000551162	T;T;T;T;T|.	0.45276|.	1.65;1.65;1.65;1.58;0.9|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.171734|.	0.26355|.	U|.	0.024848|.	T|T	0.76169|0.76169	0.3950|0.3950	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	P;B;B;P|.	0.48089|.	0.905;0.241;0.393;0.787|.	P;B;B;B|.	0.49451|.	0.611;0.075;0.19;0.359|.	T|T	0.75136|0.75136	-0.3424|-0.3424	10|5	0.66056|.	D|.	0.02|.	-9.5164|-9.5164	19.1641|19.1641	0.93546|0.93546	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2285;2108;2307;2285|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	K|E	2285;2307;2285;2108;137|1179;174	ENSP00000446132:E2285K;ENSP00000381007:E2307K;ENSP00000228327:E2285K;ENSP00000266692:E2108K;ENSP00000444918:E137K|.	ENSP00000228327:E2285K|.	E|G	+|+	1|2	0|0	NAV3|NAV3	77122930|77122930	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.061000|0.061000	0.15899|0.15899	9.869000|9.869000	0.99810|0.99810	2.532000|2.532000	0.85374|0.85374	0.591000|0.591000	0.81541|0.81541	GAG|GGA	NAV3	-	NULL	ENSG00000067798		0.498	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1		0	26	0	G	NM_001024383		78598799	1			no_errors	ENST00000397909	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	78598799	G	A	78598799	3	1	24	1	0	0	0	0	1	0	0	0	10223	1175	41	3	7003	3	NAV3	12	78598799	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	6575364	78598799	55253096	111	6276											
POC1B	282809	genome.wustl.edu	37	chr12	89890964	89890964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttatcaggaatccagaGtctcacggttctgtctcgtg	8	14	9	10	2	4	1	2	0	3	1	7	2	5	2	1	2	1	1	1	2	3	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr12:89890964G>T	ENST00000313546.3	-	3	384	c.256C>A	c.(256-258)Ctc>Atc	p.L86I	POC1B_ENST00000549035.1_Missense_Mutation_p.L44I|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000378528.2_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	86					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						GGAATCCAGAGTCTCACGGTT	0.453																																																	0													139	139	139					12																	89890964		2203	4300	6503	SO:0001583	missense	0			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.256C>A	12.37:g.89890964G>T	ENSP00000323302:p.Leu86Ile		G3V1X0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L86I	ENST00000313546.3	37	c.256	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213038	0.58452	.	.	ENSG00000139323	ENST00000313546;ENST00000549035	T;T	0.60299	0.2;0.2	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	N	0.25245	0.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58803	-0.7572	10	0.32370	T	0.25	.	12.3479	0.55132	0.0779:0.0:0.9221:0.0	.	86	Q8TC44	POC1B_HUMAN	I	86;44	ENSP00000323302:L86I;ENSP00000447916:L44I	ENSP00000323302:L86I	L	-	1	0	POC1B	88415095	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.725000	0.61979	2.582000	0.87167	0.467000	0.42956	CTC	POC1B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139323		0.453	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	-	0	41	0	G	NM_172240		89890964	-1	tier1	-	no_errors	ENST00000313546	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	89890964	G	T	89890964	3	4	24	1	0	0	0	0	1	0	0	0	12215	1029	36	3	1220	3	POC1B	12	89890964	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	11292165	89890964	43960931	112	6277											
RILPL1	353116	genome.wustl.edu	37	chr12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttatctcgggagaagaaGctaaacctttggaagggaaa	14	10	11	6	1	2	2	0	0	2	2	3	5	2	4	1	3	2	1	1	3	7	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R|RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498																																																	3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65	63	63					12																	123957223		1944	4154	6098	SO:0001583	missense	0			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,pfam_RILP	p.S358R	ENST00000376874.4	37	c.1074	CCDS45006.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC	RILPL1	-	NULL	ENSG00000188026		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL1	HGNC	protein_coding	OTTHUMT00000400595.1		0	25	0	G	NM_178314		123957223	-1			no_errors	ENST00000376874	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	T	T	123957223	G	T	123957223	3	4	24	1	0	0	0	0	1	0	0	0	13406	962	34	3	141	3	RILPL1	12	123957223	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	34066259	123957223	9894672	113	6278											
UBC	7316	genome.wustl.edu	37	chr12	125397207	125397207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacggagcaccaggtgcaAggtggactctttctggatgt	9	9	15	8	1	2	1	0	0	2	1	2	5	2	4	1	5	2	2	1	5	1	1	rs201589267	byFrequency	TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr12:125397207A>G	ENST00000536769.1	-	1	2687	c.1111T>C	c.(1111-1113)Ttg>Ctg	p.L371L	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Silent_p.L295L|UBC_ENST00000339647.5_Silent_p.L371L|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA			P0CG48	UBC_HUMAN	ubiquitin C	371	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAAGGTGGACTCT	0.542													G|||	2	0.000399361	0.0015	0	5008	,	,		29699	0		0	False		,,,				2504	0																0													225	205	212					12																	125397207		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"polyubiquitin-C"	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1111T>C	12.37:g.125397207A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.L371	ENST00000536769.1	37	c.1111	CCDS9260.1	12																																																																																			UBC	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.542	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1		0	80	0	A	NM_021009		125397207	-1			no_errors	ENST00000339647	ensembl	human	known	74_37	silent	5.13	111	6	SNP	1.000	G	G	125397207	A	G	125397207	2	3	24	1	0	0	0	0	0	0	0	1	16891	69	3	4		4	UBC	12	125397207	Silent	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	1439984	125397207	8454688	114	6279											
IFT88	8100	genome.wustl.edu	37	chr13	21189967	21189967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatatattatgacatctgCaaaactcattgctcctgtaa	16	13	4	8	0	2	1	1	1	1	0	3	1	3	1	1	0	3	3	1	0	8	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr13:21189967C>A	ENST00000319980.6	+	16	1502	c.1175C>A	c.(1174-1176)gCa>gAa	p.A392E	IFT88_ENST00000537103.1_Missense_Mutation_p.A364E|IFT88_ENST00000382778.4_Missense_Mutation_p.A392E|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.A383E	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	392					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ATGACATCTGCAAAACTCATT	0.299																																																	0													85	95	91					13																	21189967		2203	4294	6497	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.1175C>A	13.37:g.21189967C>A	ENSP00000323580:p.Ala392Glu		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A392E	ENST00000319980.6	37	c.1175	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927156	0.92389	.	.	ENSG00000032742	ENST00000382778;ENST00000389374;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.38722	1.13;1.12;1.13;1.14	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	M	0.88310	2.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.85130	0.995;0.989;0.997;0.994	T	0.77138	-0.2698	10	0.87932	D	0	-17.2129	18.3588	0.90368	0.0:1.0:0.0:0.0	.	364;392;190;392	F5H6C2;E7EW86;Q6MZX0;Q13099	.;.;.;IFT88_HUMAN	E	392;255;383;392;364	ENSP00000372228:A392E;ENSP00000261632:A383E;ENSP00000323580:A392E;ENSP00000437719:A364E	ENSP00000323580:A392E	A	+	2	0	IFT88	20087967	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.060000	0.76692	2.625000	0.88918	0.650000	0.86243	GCA	IFT88	-	NULL	ENSG00000032742		0.299	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	-	0	37	0	C	NM_006531		21189967	1	tier1	-	no_errors	ENST00000319980	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A	A	21189967	C	A	21189967	3	1	24	1	0	0	0	0	1	0	0	0	7593	710	25	3	1229	3	IFT88	13	21189967	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09		21189967	93979911	115	6280											
OLFM4	10562	genome.wustl.edu	37	chr13	53616187	53616187	+	Frame_Shift_Del	DEL	A	A	-																															ggtagaagtgaaggagatggAaaaactggtcatacagctga																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr13:53616187delA	ENST00000219022.2	+	3	578	c.500delA	c.(499-501)gaafs	p.E167fs		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	167					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AAGGAGATGGAAAAACTGGTC	0.433																																																	0													115	100	105					13																	53616187		2203	4300	6503	SO:0001589	frameshift_variant	0			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.500delA	13.37:g.53616187delA	ENSP00000219022:p.Glu167fs		O95362|Q5VWG0|Q86T22	Frame_Shift_Del	DEL	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.K168fs	ENST00000219022.2	37	c.500	CCDS9440.1	13																																																																																			OLFM4	-	NULL	ENSG00000102837		0.433	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2		0	53	0	A	NM_006418		53616187	1	tier1		no_errors	ENST00000219022	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.973	-	-	53616187	A	-	53616187	7	5	24	1	0	1	0	1	0	0	0	0	10894	246	9	0	510	0	OLFM4	13	53616187	Frame_Shift_Del	DEL	A	TCGA-IG-A50L-01A-11D-A27G-09	32426220	53616187	61553691	116	6281											
DIAPH3	81624	genome.wustl.edu	37	chr13	60686307	60686307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccctggaattcttatgctgGcaaatttgtccagctacaaa	11	13	7	10	0	1	0	0	0	1	0	3	1	3	1	2	2	3	3	2	2	5	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr13:60686307G>T	ENST00000400324.4	-	3	447	c.227C>A	c.(226-228)gCc>gAc	p.A76D	DIAPH3_ENST00000267215.4_Missense_Mutation_p.A76D|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A76D|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A65D|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A65D|DIAPH3_ENST00000400319.1_Intron	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	76					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTATGCTGGCAAATTTGTC	0.423																																																	0													155	145	148					13																	60686307		1837	4092	5929	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.227C>A	13.37:g.60686307G>T	ENSP00000383178:p.Ala76Asp		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.A76D	ENST00000400324.4	37	c.227	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805455	0.90623	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000377908;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D	0.90955	-1.75;-1.75;-1.84;-2.76;-1.71	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.93530	0.7935	L	0.53249	1.67	0.43667	D	0.99609	D;D;D	0.67145	0.996;0.996;0.995	P;P;P	0.60345	0.864;0.864;0.873	D	0.93587	0.6918	10	0.72032	D	0.01	.	19.0276	0.92939	0.0:0.0:1.0:0.0	.	65;65;76	C9JL55;C9JDG1;Q9NSV4	.;.;DIAP3_HUMAN	D	76;76;65;65;65;65;76;76	ENSP00000383178:A76D;ENSP00000383184:A76D;ENSP00000367141:A65D;ENSP00000383174:A65D;ENSP00000267215:A76D	ENSP00000267215:A76D	A	-	2	0	DIAPH3	59584308	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.157000	0.77461	2.797000	0.96272	0.563000	0.77884	GCC	DIAPH3	-	NULL	ENSG00000139734		0.423	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3		0	35	0	G	NM_001042517		60686307	-1			no_errors	ENST00000400324	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	60686307	G	T	60686307	3	4	24	1	0	0	0	0	1	0	0	0	4534	1203	42	3	3478	3	DIAPH3	13	60686307	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	7070120	60686307	54483571	117	6282											
OR4Q3	441669	genome.wustl.edu	37	chr14	20216269	20216269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctgatcaccctgagaaCacacttctgccagggccaga	11	7	8	15	0	2	3	1	2	1	2	3	4	3	3	4	1	2	0	4	1	1	1	rs187324686		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:20216269C>T	ENST00000331723.1	+	1	683	c.683C>T	c.(682-684)aCa>aTa	p.T228I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCTGAGAACACACTTCTGC	0.493																																																	0													173	148	156					14																	20216269		2203	4300	6503	SO:0001583	missense	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.683C>T	14.37:g.20216269C>T	ENSP00000330049:p.Thr228Ile		Q6IEX4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T228I	ENST00000331723.1	37	c.683	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	8.922	0.961355	0.18583	.	.	ENSG00000182652	ENST00000331723	T	0.00016	9.11	4.1	0.839	0.18907	GPCR, rhodopsin-like superfamily (1);	0.188478	0.25464	U	0.030493	T	0.00039	0.0001	N	0.00456	-1.48	0.09310	N	1	P	0.40660	0.726	P	0.46389	0.515	T	0.44847	-0.9301	10	0.66056	D	0.02	.	9.5028	0.39028	0.5509:0.4491:0.0:0.0	.	228	Q8NH05	OR4Q3_HUMAN	I	228	ENSP00000330049:T228I	ENSP00000330049:T228I	T	+	2	0	OR4Q3	19286109	0.000000	0.05858	0.750000	0.31169	0.109000	0.19521	-0.022000	0.12480	0.318000	0.23185	0.509000	0.49947	ACA	OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182652		0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0	54	0	C			20216269	1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.002	T	T	20216269	C	T	20216269	3	4	24	1	0	0	0	0	1	0	0	0	11120	478	17	3	685	3	OR4Q3	14	20216269	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09		20216269	87133271	118	6283											
OR4K1	79544	genome.wustl.edu	37	chr14	20403917	20403917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcttttttgccatctTctctatagtctatgtgacat	7	21	4	9	0	4	1	0	1	4	0	5	1	4	1	1	0	1	0	1	0	3	9			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:20403917T>C	ENST00000285600.4	+	1	151	c.92T>C	c.(91-93)tTc>tCc	p.F31S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGCCATCTTCTCTATAGTC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											345	377	366					14																	20403917		2203	4300	6503	SO:0001583	missense	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.92T>C	14.37:g.20403917T>C	ENSP00000285600:p.Phe31Ser		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31S	ENST00000285600.4	37	c.92	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344102	0.41498	.	.	ENSG00000155249	ENST00000285600	T	0.04551	3.6	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000013	T	0.18002	0.0432	M	0.75447	2.3	0.24403	N	0.994698	D	0.89917	1.0	D	0.97110	1.0	T	0.09100	-1.0690	10	0.22109	T	0.4	.	12.2701	0.54702	0.0:0.0:0.0:1.0	.	31	Q8NGD4	OR4K1_HUMAN	S	31	ENSP00000285600:F31S	ENSP00000285600:F31S	F	+	2	0	OR4K1	19473757	0.976000	0.34144	0.844000	0.33320	0.382000	0.30200	4.906000	0.63293	2.008000	0.58898	0.459000	0.35465	TTC	OR4K1	-	prints_GPCR_Rhodpsn	ENSG00000155249		0.378	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0	88	0	T			20403917	1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.368	C	C	20403917	T	C	20403917	3	2	24	1	0	0	0	0	1	0	0	0	11106	1783	62	4	94	4	OR4K1	14	20403917	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	187648	20403917	86945623	119	6284											
SCFD1	23256	genome.wustl.edu	37	chr14	31171539	31171539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaaagctttaactgatgCaggatgcaaccttaatcctt	15	12	6	8	0	0	1	0	1	0	0	1	2	1	2	2	1	5	3	2	1	6	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:31171539C>T	ENST00000458591.2	+	17	1675	c.1448C>T	c.(1447-1449)gCa>gTa	p.A483V	SCFD1_ENST00000544052.2_Missense_Mutation_p.A416V|SCFD1_ENST00000541123.1_Missense_Mutation_p.A298V|SCFD1_ENST00000396629.2_Missense_Mutation_p.A391V|SCFD1_ENST00000421551.3_Missense_Mutation_p.A424V|SCFD1_ENST00000554486.1_3'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	483					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TTAACTGATGCAGGATGCAAC	0.289																																																	0													70	75	74					14																	31171539		2203	4300	6503	SO:0001583	missense	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.1448C>T	14.37:g.31171539C>T	ENSP00000390783:p.Ala483Val		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.A483V	ENST00000458591.2	37	c.1448	CCDS9639.1	14	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485797	0.63962	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000541123;ENST00000396629	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.78000	0.4215	M	0.64676	1.99	0.80722	D	1	B;B;B;B	0.26445	0.072;0.147;0.149;0.147	B;B;B;B	0.30105	0.099;0.071;0.091;0.111	T	0.76342	-0.2994	10	0.49607	T	0.09	-4.9512	18.3989	0.90509	0.0:1.0:0.0:0.0	.	424;416;391;483	B7Z738;B7Z4U7;B7Z594;Q8WVM8	.;.;.;SCFD1_HUMAN	V	483;416;424;298;391	ENSP00000390783:A483V;ENSP00000443010:A416V;ENSP00000388078:A424V;ENSP00000443537:A298V;ENSP00000379870:A391V	ENSP00000309417:A491V	A	+	2	0	SCFD1	30241290	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.343000	0.72986	2.512000	0.84698	0.655000	0.94253	GCA	SCFD1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000092108		0.289	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3		0	37	0	C	NM_182835		31171539	1			no_errors	ENST00000458591	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	31171539	C	T	31171539	3	4	24	1	0	0	0	0	1	0	0	0	13934	710	25	3	1514	3	SCFD1	14	31171539	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	10767622	31171539	76178001	120	6285											
ARHGAP5	394	genome.wustl.edu	37	chr14	32623846	32623846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggttagtcagcaacataaaAtcaacctaatgacagcagac	17	7	8	9	0	2	2	2	1	0	1	2	2	2	2	1	1	4	3	1	1	6	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:32623846A>G	ENST00000345122.3	+	7	4516	c.4201A>G	c.(4201-4203)Atc>Gtc	p.I1401V	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I1400V|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I1401V|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.I140V|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.I136V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I1400V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1401	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GCAACATAAAATCAACCTAAT	0.343																																					NSCLC(9;77 350 3443 29227 41353)												0													91	85	87					14																	32623846		2203	4300	6503	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4201A>G	14.37:g.32623846A>G	ENSP00000371897:p.Ile1401Val		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.I1401V	ENST00000345122.3	37	c.4201	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	A	2.666	-0.278747	0.05679	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497	T;T;T;T;T;T	0.20738	2.27;2.27;2.05;2.27;2.27;2.05	4.93	3.72	0.42706	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.236356	0.42420	N	0.000701	T	0.05181	0.0138	N	0.00517	-1.405	0.27820	N	0.941845	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.35025	-0.9805	10	0.07990	T	0.79	.	10.4212	0.44352	0.9176:0.0:0.0824:0.0	.	136;1400;1401	Q13017-3;Q13017-2;Q13017	.;.;RHG05_HUMAN	V	1400;1401;136;1401;1400;140	ENSP00000452222:I1400V;ENSP00000441692:I1401V;ENSP00000379827:I136V;ENSP00000371897:I1401V;ENSP00000393307:I1400V;ENSP00000407395:I140V	ENSP00000371897:I1401V	I	+	1	0	ARHGAP5	31693597	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.558000	0.53749	0.777000	0.33496	0.449000	0.29647	ATC	ARHGAP5	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000100852		0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	33	0	A	NM_001030055		32623846	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	G	G	32623846	A	G	32623846	3	3	24	1	0	0	0	0	1	0	0	0	886	101	4	4	4223	4	ARHGAP5	14	32623846	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	1452307	32623846	74725694	121	6286											
BAZ1A	11177	genome.wustl.edu	37	chr14	35255028	35255028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgacagtttcttcactaGactgggattgctcaaacgaa	11	12	9	9	1	3	2	2	1	1	1	3	4	3	3	0	1	2	3	0	1	3	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:35255028G>T	ENST00000382422.2	-	13	2113	c.1786C>A	c.(1786-1788)Cta>Ata	p.L596I	BAZ1A_ENST00000360310.1_Missense_Mutation_p.L596I|BAZ1A_ENST00000358716.4_Missense_Mutation_p.L564I			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	596					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTTCACTAGACTGGGATTG	0.423																																																	0													131	109	117					14																	35255028		2203	4300	6503	SO:0001583	missense	0			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"Zinc fingers, PHD-type"	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1786C>A	14.37:g.35255028G>T	ENSP00000371859:p.Leu596Ile		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L596I	ENST00000382422.2	37	c.1786	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630826	0.28978	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.71341	-0.56;-0.5;-0.5	5.47	2.49	0.30216	.	0.075708	0.56097	D	0.000038	T	0.37348	0.1000	N	0.04203	-0.255	0.43073	D	0.994716	B;B	0.31318	0.319;0.108	B;B	0.22753	0.041;0.025	T	0.08472	-1.0720	10	0.15952	T	0.53	.	4.5028	0.11872	0.2182:0.0:0.5247:0.2571	.	564;596	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	I	564;596;596;248	ENSP00000351555:L564I;ENSP00000371859:L596I;ENSP00000353458:L596I	ENSP00000351555:L564I	L	-	1	2	BAZ1A	34324779	0.998000	0.40836	0.559000	0.28332	0.909000	0.53808	2.722000	0.47269	0.682000	0.31407	0.446000	0.29264	CTA	BAZ1A	-	NULL	ENSG00000198604		0.423	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	-	0	30	0	G			35255028	-1	tier1	-	no_errors	ENST00000360310	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.818	T	T	35255028	G	T	35255028	3	4	24	1	0	0	0	0	1	0	0	0	1330	933	33	3	2940	3	BAZ1A	14	35255028	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	2631182	35255028	72094512	122	6287											
FSCB	84075	genome.wustl.edu	37	chr14	44975361	44975361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggctccgctttagcagtgGcctcttcaactaatggaggc	7	11	12	11	1	2	0	1	0	1	0	3	1	3	1	2	4	2	3	2	4	3	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:44975361G>A	ENST00000340446.4	-	1	1121	c.830C>T	c.(829-831)gCc>gTc	p.A277V	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	277						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTTAGCAGTGGCCTCTTCAAC	0.488																																																	0													56	59	58					14																	44975361		2203	4300	6503	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.830C>T	14.37:g.44975361G>A	ENSP00000344579:p.Ala277Val		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.A277V	ENST00000340446.4	37	c.830	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526404	0.27299	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17691	2.26	4.48	-2.08	0.07254	.	.	.	.	.	T	0.10465	0.0256	L	0.29908	0.895	0.09310	N	1	P	0.40332	0.713	B	0.39562	0.303	T	0.25606	-1.0127	9	0.28530	T	0.3	3.6913	5.65	0.17610	0.3056:0.2554:0.439:0.0	.	277	Q5H9T9	FSCB_HUMAN	V	277	ENSP00000344579:A277V	ENSP00000344579:A277V	A	-	2	0	FSCB	44045111	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.074000	0.11450	-0.576000	0.05974	-0.889000	0.02933	GCC	FSCB	-	NULL	ENSG00000189139		0.488	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1		0	38	0	G	NM_032135		44975361	-1			no_errors	ENST00000340446	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.018	A	A	44975361	G	A	44975361	3	1	24	1	0	0	0	0	1	0	0	0	6090	1203	42	3	1651	3	FSCB	14	44975361	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	9720333	44975361	62374179	123	6288											
MAP4K5	11183	genome.wustl.edu	37	chr14	50895961	50895961	+	Frame_Shift_Del	DEL	A	A	-																															caactgtgttacatgaatggAatctaactgctggctgcctt																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:50895961delA	ENST00000013125.4	-	28	2500	c.2182delT	c.(2182-2184)tccfs	p.S728fs		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	728	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ACATGAATGGAATCTAACTGC	0.308																																																	0													71	66	67					14																	50895961		1820	4075	5895	SO:0001589	frameshift_variant	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2182delT	14.37:g.50895961delA	ENSP00000013125:p.Ser728fs		Q8IYF6	Frame_Shift_Del	DEL	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.S728fs	ENST00000013125.4	37	c.2182		14																																																																																			MAP4K5	-	pfam_Citron,smart_Citron	ENSG00000012983		0.308	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1		0	27	0	A	NM_006575		50895961	-1	tier1		no_errors	ENST00000013125	ensembl	human	known	74_37	frame_shift_del	21.88	25	7	DEL	1.000	-	-	50895961	A	-	50895961	7	5	24	1	0	1	0	1	0	0	0	0	9301	246	9	0	378	0	MAP4K5	14	50895961	Frame_Shift_Del	DEL	A	TCGA-IG-A50L-01A-11D-A27G-09	5920600	50895961	56453579	124	6289											
GALC	2581	genome.wustl.edu	37	chr14	88431853	88431853	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaactgaaccatacctgaTacccagacaggagattctac	14	8	8	11	0	1	4	0	2	1	2	1	6	1	5	3	2	5	0	3	2	5	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr14:88431853T>C	ENST00000261304.2	-	9	1135	c.1029A>G	c.(1027-1029)gtA>gtG	p.V343V	GALC_ENST00000393569.2_Silent_p.V317V|GALC_ENST00000393568.4_Silent_p.V320V|GALC_ENST00000544807.2_Silent_p.V287V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	343					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCATACCTGATACCCAGACAG	0.448																																																	0													87	93	91					14																	88431853		1901	4125	6026	SO:0001819	synonymous_variant	0			L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"Krabbe disease"	606890	"galactosylceramidase (Krabbe disease)"				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1029A>G	14.37:g.88431853T>C			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_59	p.V343	ENST00000261304.2	37	c.1029	CCDS9878.2	14																																																																																			GALC	-	pfam_Glyco_hydro_59,superfamily_Glycoside_hydrolase_SF	ENSG00000054983		0.448	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALC	HGNC	protein_coding	OTTHUMT00000071559.2		0	20	0	T			88431853	-1			no_errors	ENST00000261304	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.016	C	C	88431853	T	C	88431853	2	2	24	1	0	0	0	0	0	0	0	1	6226	1393	49	4		4	GALC	14	88431853	Silent	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	37535892	88431853	18917687	125	6290											
ZNF609	23060	genome.wustl.edu	37	chr15	64967549	64967549	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggtgacccagaatggAgctgaagccagctcagtcaa	12	7	12	10	0	2	3	2	2	0	1	2	4	2	4	2	2	3	2	2	2	3	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr15:64967549A>T	ENST00000326648.3	+	4	2624	c.2496A>T	c.(2494-2496)ggA>ggT	p.G832G		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	832						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCAGAATGGAGCTGAAGCCA	0.552																																																	0													75	74	74					15																	64967549		2203	4299	6502	SO:0001819	synonymous_variant	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2496A>T	15.37:g.64967549A>T			Q0D2I2	Silent	SNP	pfscan_Znf_C2H2	p.G832	ENST00000326648.3	37	c.2496	CCDS32270.1	15																																																																																			ZNF609	-	NULL	ENSG00000180357		0.552	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	-	0	18	0	A	XM_042833		64967549	1	tier1	-	no_errors	ENST00000326648	ensembl	human	known	74_37	silent	47.37	10	9	SNP	0.950	T	T	64967549	A	T	64967549	2	4	24	1	0	0	0	0	0	0	0	1	18083	291	11	5		5	ZNF609	15	64967549	Silent	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09		64967549	37563843	126	6291											
NPRL3	8131	genome.wustl.edu	37	chr16	139733	139733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagccaaagctgagggcGttgggcgtgctgaggctgcg	6	6	21	8	3	0	2	0	2	0	0	0	3	0	3	1	5	4	4	1	5	1	1	rs559760517		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr16:139733G>A	ENST00000399953.3	-	11	1731	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	Z69720.2_ENST00000601483.1_RNA|NPRL3_ENST00000399951.3_Silent_p.N264N|NPRL3_ENST00000405960.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	443					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						AGCTGAGGGCGTTGGGCGTGC	0.687													G|||	1	0.000199681	8e-04	0	5008	,	,		16709	0		0	False		,,,				2504	0																0													15	21	19					16																	139733		2162	4262	6424	SO:0001819	synonymous_variant	0				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.1329C>T	16.37:g.139733G>A			D3DU40|Q1W6H0|Q4TT56|Q92469	Silent	SNP	pfam_NPR3,superfamily_Galactose-bd-like	p.N443	ENST00000399953.3	37	c.1329		16																																																																																			NPRL3	-	NULL	ENSG00000103148		0.687	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	NPRL3	HGNC	protein_coding			0	32	0	G	NM_001039476		139733	-1			no_errors	ENST00000399953	ensembl	human	known	74_37	silent	14.00	43	7	SNP	0.902	A	A	139733	G	A	139733	2	1	24	1	0	0	0	0	0	0	0	1	10637	1136	40	1		1	NPRL3	16	139733	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09		139733	90215020	127	6292											
C16orf88	400506	genome.wustl.edu	37	chr16	19718330	19718330	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctccccggctgtactTccagctcatggcccggtcgt	3	9	12	17	4	1	0	1	0	0	0	4	0	3	0	5	4	2	4	5	4	1	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr16:19718330T>A	ENST00000219837.7	-	5	1357	c.1279A>T	c.(1279-1281)Aag>Tag	p.K427*	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_Nonsense_Mutation_p.K106*	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	427	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGGCTGTACTTCCAGCTCATG	0.592																																																	0													77	84	82					16																	19718330		1873	4098	5971	SO:0001587	stop_gained	0			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1279A>T	16.37:g.19718330T>A	ENSP00000219837:p.Lys427*		O43328|Q5FWF3	Nonsense_Mutation	SNP	NULL	p.K427*	ENST00000219837.7	37	c.1279	CCDS42127.1	16	.	.	.	.	.	.	.	.	.	.	T	38	6.801554	0.97849	.	.	ENSG00000103550	ENST00000219837	.	.	.	4.87	3.75	0.43078	.	0.824426	0.11110	N	0.598667	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.4599	11.6228	0.51128	0.0:0.0:0.1492:0.8508	.	.	.	.	X	427	.	.	K	-	1	0	C16orf88	19625831	1.000000	0.71417	0.999000	0.59377	0.809000	0.45718	1.374000	0.34283	0.836000	0.34901	0.460000	0.39030	AAG	KNOP1	-	NULL	ENSG00000103550		0.592	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNOP1	HGNC	protein_coding	OTTHUMT00000435993.2	-	0	52	0	T	NM_001012991		19718330	-1	tier1	-	no_errors	ENST00000219837	ensembl	human	known	74_37	nonsense	29.73	26	11	SNP	1.000	A	A	19718330	T	A	19718330	4	1	24	1	0	0	0	0	0	1	0	0	1846	1792	62	5	101	5	C16orf88	16	19718330	Nonsense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	19578597	19718330	70636423	128	6293											
RLTPR	146206	genome.wustl.edu	37	chr16	67688336	67688336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccttcaagaagcctcGttcaacgcggggtccacgga	8	9	11	13	4	2	1	2	0	0	1	4	2	3	2	3	3	3	1	3	3	3	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr16:67688336G>A	ENST00000334583.6	+	31	3651	c.3323G>A	c.(3322-3324)cGt>cAt	p.R1108H	RLTPR_ENST00000545661.1_Missense_Mutation_p.R1072H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1108					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AAGAAGCCTCGTTCAACGCGG	0.647																																																	0													21	24	23					16																	67688336		1955	4128	6083	SO:0001583	missense	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3323G>A	16.37:g.67688336G>A	ENSP00000334958:p.Arg1108His		B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R1108H	ENST00000334583.6	37	c.3323	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558260	0.86231	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.26373	1.74;1.78	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000030	T	0.15652	0.0377	L	0.32530	0.975	0.41284	D	0.986937	P;P	0.40107	0.703;0.703	B;B	0.30401	0.115;0.115	T	0.02404	-1.1164	10	0.54805	T	0.06	-10.9528	8.1093	0.30905	0.1347:0.0:0.8653:0.0	.	1072;1108	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	H	1108;205;1072	ENSP00000334958:R1108H;ENSP00000441481:R1072H	ENSP00000334958:R1108H	R	+	2	0	RLTPR	66245837	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.241000	0.51376	2.744000	0.94065	0.563000	0.77884	CGT	RLTPR	-	NULL	ENSG00000159753		0.647	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	-	0	57	0	G	NM_001013838		67688336	1	tier1	-	no_errors	ENST00000334583	ensembl	human	known	74_37	missense	12.94	74	11	SNP	1.000	A	A	67688336	G	A	67688336	3	1	24	1	0	0	0	0	1	0	0	0	13439	1145	40	1	3445	1	RLTPR	16	67688336	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	47970006	67688336	22666417	129	6294											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76523630	76523630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctctgacttaacaagaGtcagaaatactaatccagag	16	8	8	9	1	2	4	1	1	1	3	3	4	3	4	1	1	2	1	1	1	5	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr16:76523630G>T	ENST00000476707.1	+	12	2078	c.1939G>T	c.(1939-1941)Gtc>Ttc	p.V647F	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V571F|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V595F|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.V643F|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	644	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTTAACAAGAGTCAGAAATAC	0.468																																																	0													44	38	40					16																	76523630		2198	4300	6498	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1939G>T	16.37:g.76523630G>T	ENSP00000417628:p.Val647Phe		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V643F	ENST00000476707.1	37	c.1927		16	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430010	0.62844	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	4.55	4.55	0.56014	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.46795	0.1411	.	.	.	0.54753	D	0.999987	P;P;D;P	0.76494	0.883;0.883;0.999;0.556	P;P;D;B	0.66979	0.624;0.624;0.948;0.403	T	0.51474	-0.8701	8	0.87932	D	0	.	17.4696	0.87642	0.0:0.0:1.0:0.0	.	571;647;619;644	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	F	643;595;571;647	ENSP00000306893:V643F;ENSP00000439733:V595F;ENSP00000418741:V571F;ENSP00000417628:V647F	ENSP00000306893:V643F	V	+	1	0	CNTNAP4	75081131	1.000000	0.71417	0.592000	0.28758	0.981000	0.71138	4.171000	0.58236	2.527000	0.85204	0.557000	0.71058	GTC	CNTNAP4	-	NULL	ENSG00000152910		0.468	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	-	0	19	0	G	NM_033401		76523630	1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T	T	76523630	G	T	76523630	3	4	24	1	0	0	0	0	1	0	0	0	3656	1029	36	3	1993	3	CNTNAP4	16	76523630	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	8835294	76523630	13831123	130	6295											
ANKFY1	51479	genome.wustl.edu	37	chr17	4080500	4080500	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcatcctggactcttGaattcacattagcgtggaca	10	11	11	9	1	2	1	1	1	1	0	3	4	3	4	1	4	1	1	1	4	2	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:4080500G>T	ENST00000341657.4	-	19	2731	c.2696C>A	c.(2695-2697)tCa>tAa	p.S899*	ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.S900*|ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.S941*|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	899					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTGGACTCTTGAATTCACATT	0.473																																																	0													131	123	126					17																	4080500		1978	4176	6154	SO:0001587	stop_gained	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2696C>A	17.37:g.4080500G>T	ENSP00000343362:p.Ser899*		A8KA65|Q5RKV4|Q9ULG5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.S941*	ENST00000341657.4	37	c.2822		17	.	.	.	.	.	.	.	.	.	.	G	39	7.872826	0.98537	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7054	19.367	0.94468	0.0:0.0:1.0:0.0	.	.	.	.	X	900;841	.	ENSP00000343362:S900X	S	-	2	0	ANKFY1	4027249	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.609000	0.98334	2.826000	0.97356	0.563000	0.77884	TCA	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.473	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	-	0	27	0	G	NM_016376		4080500	-1	tier1	-	no_errors	ENST00000570535	ensembl	human	known	74_37	nonsense	21.62	29	8	SNP	1.000	T	T	4080500	G	T	4080500	4	4	24	1	0	0	0	0	0	1	0	0	626	1294	45	3	841	3	ANKFY1	17	4080500	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09		4080500	77114710	131	6296											
FBXO39	162517	genome.wustl.edu	37	chr17	6684108	6684108	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcttgcaggagatcccGatcaggagcatcagtctgag	10	9	11	11	1	4	2	2	1	2	1	6	5	6	3	2	2	2	2	2	2	0	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:6684108G>T	ENST00000321535.4	+	2	1051	c.921G>T	c.(919-921)ccG>ccT	p.P307P		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	307								p.P307P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AGGAGATCCCGATCAGGAGCA	0.532																																																	1	Substitution - coding silent(1)	large_intestine(1)											59	51	54					17																	6684108		2203	4300	6503	SO:0001819	synonymous_variant	0			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.921G>T	17.37:g.6684108G>T				Silent	SNP	NULL	p.P307	ENST00000321535.4	37	c.921	CCDS11082.1	17																																																																																			FBXO39	-	NULL	ENSG00000177294		0.532	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2		0	36	0	G	NM_153230		6684108	1			no_errors	ENST00000321535	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.000	T	T	6684108	G	T	6684108	2	4	24	1	0	0	0	0	0	0	0	1	5769	1045	37	2		2	FBXO39	17	6684108	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	2603608	6684108	74511102	132	6297											
TP53	7157	genome.wustl.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:7577114C>A	ENST00000269305.4	-	8	1013	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000420246.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>T	17.37:g.7577114C>A	ENSP00000269305:p.Cys275Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C275F	ENST00000269305.4	37	c.824	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	300	0	C	NM_000546		7577114	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	50.53	138	142	SNP	1.000	A	A	7577114	C	A	7577114	3	1	24	1	0	0	0	0	1	0	0	0	16429	478	17	3	462	3	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	893006	7577114	73618096	133	6298											
MYH2	4620	genome.wustl.edu	37	chr17	10431151	10431151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgatttcagttcactcAgttggtcctctagagtccgg	6	15	9	11	1	4	2	3	1	1	1	6	2	6	2	3	2	0	2	3	2	1	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:10431151A>G	ENST00000245503.5	-	28	4169	c.3785T>C	c.(3784-3786)cTg>cCg	p.L1262P	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L1262P|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1262					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGTTCACTCAGTTGGTCCTC	0.463																																																	0													91	93	93					17																	10431151		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3785T>C	17.37:g.10431151A>G	ENSP00000245503:p.Leu1262Pro		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1262P	ENST00000245503.5	37	c.3785	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	16.68	3.191679	0.58017	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82167	-1.58;-1.58	4.78	4.78	0.61160	Myosin tail (1);	0.576988	0.12771	U	0.440549	D	0.94072	0.8100	H	0.95679	3.705	0.58432	D	0.999995	B	0.29341	0.242	P	0.54140	0.743	D	0.93450	0.6801	10	0.87932	D	0	.	14.7694	0.69665	1.0:0.0:0.0:0.0	.	1262	Q9UKX2	MYH2_HUMAN	P	1262	ENSP00000245503:L1262P;ENSP00000380367:L1262P	ENSP00000245503:L1262P	L	-	2	0	MYH2	10371876	0.910000	0.30920	0.998000	0.56505	0.027000	0.11550	7.267000	0.78462	2.136000	0.66102	0.379000	0.24179	CTG	MYH2	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000125414		0.463	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	42	0	A	NM_017534		10431151	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	G	G	10431151	A	G	10431151	3	3	24	1	0	0	0	0	1	0	0	0	10073	188	7	4	2092	4	MYH2	17	10431151	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	2854037	10431151	70764059	134	6299											
KRT15	3866	genome.wustl.edu	37	chr17	39670288	39670288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagacacttagatttctctcTtgtgggaagaaaccacctgt	11	13	8	9	0	2	3	0	0	2	3	3	4	2	4	2	1	1	0	2	1	4	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:39670288T>C	ENST00000254043.3	-	8	4943	c.1358A>G	c.(1357-1359)aAg>aGg	p.K453R	KRT15_ENST00000393974.3_Missense_Mutation_p.K288R|KRT15_ENST00000393981.3_3'UTR|KRT15_ENST00000393976.2_Missense_Mutation_p.K453R	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	453	Tail.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				GATTTCTCTCTTGTGGGAAGA	0.517																																																	0													157	144	148					17																	39670288		2203	4300	6503	SO:0001583	missense	0				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"-", "Intermediate filaments type I, keratins (acidic)"	6421	protein-coding gene	gene with protein product	"keratin-15, basic", "keratin-15, beta", "type I cytoskeletal 15", "cytokeratin 15"	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1358A>G	17.37:g.39670288T>C	ENSP00000254043:p.Lys453Arg		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.K453R	ENST00000254043.3	37	c.1358	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	T	10.04	1.242604	0.22796	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976	D;T;D	0.81908	-1.55;-1.39;-1.55	5.75	4.67	0.58626	.	0.132339	0.33631	N	0.004712	T	0.65626	0.2709	N	0.08118	0	0.80722	D	1	B;B;B	0.30406	0.041;0.278;0.278	B;B;B	0.24974	0.037;0.057;0.057	T	0.63919	-0.6528	10	0.49607	T	0.09	.	10.1019	0.42511	0.0:0.0:0.1686:0.8314	.	288;453;453	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	R	453;288;453	ENSP00000254043:K453R;ENSP00000377544:K288R;ENSP00000377546:K453R	ENSP00000254043:K453R	K	-	2	0	KRT15	36923814	0.998000	0.40836	0.966000	0.40874	0.035000	0.12851	2.440000	0.44855	1.004000	0.39156	-0.264000	0.10439	AAG	KRT15	-	NULL	ENSG00000171346		0.517	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	-	0	18	0	T	NM_002275		39670288	-1	tier1	-	no_errors	ENST00000254043	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.966	C	C	39670288	T	C	39670288	3	2	24	1	0	0	0	0	1	0	0	0	8479	1609	56	4	16	4	KRT15	17	39670288	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	29239137	39670288	41524922	135	6300											
PLEKHM1	9842	genome.wustl.edu	37	chr17	43545911	43545911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtttcttggctcagtccGttggttggcacagagtttac	5	16	11	9	1	3	1	1	0	2	1	4	1	4	1	1	3	1	6	1	3	1	6	rs564130886		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:43545911G>T	ENST00000430334.3	-	5	1105	c.972C>A	c.(970-972)aaC>aaA	p.N324K	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.N235K|RN7SL730P_ENST00000583727.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	324					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGCTCAGTCCGTTGGTTGGCA	0.517																																																	0													138	136	137					17																	43545911		2203	4300	6503	SO:0001583	missense	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.972C>A	17.37:g.43545911G>T	ENSP00000389913:p.Asn324Lys		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.N324K	ENST00000430334.3	37	c.972	CCDS32671.1	17	.	.	.	.	.	.	.	.	.	.	G	6.238	0.412021	0.11812	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.62364	0.03;0.03	4.69	-2.6	0.06190	.	1.097330	0.06946	N	0.813671	T	0.44623	0.1302	L	0.51422	1.61	0.09310	N	1	B;B	0.22604	0.024;0.072	B;B	0.14578	0.01;0.011	T	0.22034	-1.0228	10	0.10636	T	0.68	.	1.1715	0.01826	0.3807:0.1439:0.3283:0.1471	.	235;324	F8W648;Q9Y4G2	.;PKHM1_HUMAN	K	324;273;235	ENSP00000389913:N324K;ENSP00000414352:N235K	ENSP00000414352:N235K	N	-	3	2	PLEKHM1	40901694	0.000000	0.05858	0.001000	0.08648	0.290000	0.27261	0.228000	0.17814	-0.517000	0.06461	-0.982000	0.02568	AAC	PLEKHM1	-	NULL	ENSG00000225190		0.517	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	-	0	47	0	G	NM_014798		43545911	-1	tier1	-	no_errors	ENST00000430334	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	T	T	43545911	G	T	43545911	3	4	24	1	0	0	0	0	1	0	0	0	12119	1136	40	2	2230	2	PLEKHM1	17	43545911	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	3875623	43545911	37649299	136	6301											
SPAG9	9043	genome.wustl.edu	37	chr17	49072830	49072830	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtatctttttcatccAgaggtctgagatagacaggc	10	14	10	7	0	3	4	1	2	2	3	4	5	4	4	1	2	0	1	1	2	2	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:49072830A>T	ENST00000262013.7	-	17	2241	c.2033T>A	c.(2032-2034)cTg>cAg	p.L678Q	SPAG9_ENST00000505279.1_Missense_Mutation_p.L668Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.L664Q|SPAG9_ENST00000510283.1_Missense_Mutation_p.L521Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	678					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTTCATCCAGAGGTCTGAG	0.338																																																	0													91	87	88					17																	49072830		2203	4300	6503	SO:0001583	missense	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2033T>A	17.37:g.49072830A>T	ENSP00000262013:p.Leu678Gln		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.L678Q	ENST00000262013.7	37	c.2033	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637736	0.87760	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.44083	0.96;0.93;0.99;0.96	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.69079	0.3071	M	0.86864	2.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;0.998	T	0.75991	-0.3122	10	0.87932	D	0	-7.9713	15.0059	0.71513	1.0:0.0:0.0:0.0	.	664;678;668;678;664;521	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	Q	678;434;424;214;521;668;664;276	ENSP00000262013:L678Q;ENSP00000423165:L521Q;ENSP00000426900:L668Q;ENSP00000349636:L664Q	ENSP00000262013:L678Q	L	-	2	0	SPAG9	46427829	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.249000	0.95470	1.957000	0.56846	0.482000	0.46254	CTG	SPAG9	-	NULL	ENSG00000008294		0.338	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	-	0	25	0	A	NM_003971		49072830	-1	tier1	-	no_errors	ENST00000262013	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	T	T	49072830	A	T	49072830	3	4	24	1	0	0	0	0	1	0	0	0	15032	188	7	5	1988	5	SPAG9	17	49072830	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	5526919	49072830	32122380	137	6302											
LPO	4025	genome.wustl.edu	37	chr17	56329698	56329698	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctttgtgtacagctcCgagccaagcctggccagccg	7	7	12	15	2	0	0	0	0	0	0	1	1	1	0	6	1	6	3	6	1	2	2	rs369628308		TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:56329698C>T	ENST00000262290.4	+	8	1252	c.936C>T	c.(934-936)tcC>tcT	p.S312S	LPO_ENST00000543544.1_Silent_p.S253S|LPO_ENST00000421678.2_Silent_p.S229S|LPO_ENST00000582328.1_Silent_p.S229S	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	312					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGTACAGCTCCGAGCCAAGCC	0.632																																																	0								C	,	0,4406		0,0,2203	59	53	55		687,936	-10.6	0	17		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LPO	NM_001160102.1,NM_006151.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	229/630,312/713	56329698	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.936C>T	17.37:g.56329698C>T			A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S312	ENST00000262290.4	37	c.936	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000167419		0.632	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	-	0	40	0	C			56329698	1	tier1	-	no_errors	ENST00000262290	ensembl	human	known	74_37	silent	22.00	39	11	SNP	0.000	T	T	56329698	C	T	56329698	2	4	24	1	0	0	0	0	0	0	0	1	8957	639	23	1		1	LPO	17	56329698	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	7256868	56329698	24865512	138	6303											
MTMR4	9110	genome.wustl.edu	37	chr17	56581213	56581213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgctggcagataaacaGctgtccagaggtgcagggcc	11	7	14	9	0	0	3	0	1	0	2	1	3	1	3	2	3	4	4	2	3	2	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr17:56581213G>T	ENST00000323456.5	-	15	1827	c.1703C>A	c.(1702-1704)gCt>gAt	p.A568D	MTMR4_ENST00000579925.1_Missense_Mutation_p.A511D	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	568	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGATAAACAGCTGTCCAGAG	0.522																																																	0													137	136	136					17																	56581213		2203	4300	6503	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1703C>A	17.37:g.56581213G>T	ENSP00000325285:p.Ala568Asp		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.A568D	ENST00000323456.5	37	c.1703	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769555	0.69992	.	.	ENSG00000108389	ENST00000323456	D	0.89746	-2.56	5.98	5.98	0.97165	Myotubularin phosphatase domain (1);	0.312106	0.36066	N	0.002809	D	0.91985	0.7461	L	0.43646	1.37	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	D	0.92016	0.5622	10	0.66056	D	0.02	.	14.9653	0.71188	0.0:0.1421:0.8579:0.0	.	568	Q9NYA4	MTMR4_HUMAN	D	568	ENSP00000325285:A568D	ENSP00000325285:A568D	A	-	2	0	MTMR4	53936212	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.182000	0.94881	2.837000	0.97791	0.591000	0.81541	GCT	MTMR4	-	NULL	ENSG00000108389		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	-	0	40	0	G	NM_004687		56581213	-1	tier1	-	no_errors	ENST00000323456	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	56581213	G	T	56581213	3	4	24	1	0	0	0	0	1	0	0	0	9984	971	34	3	1904	3	MTMR4	17	56581213	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	251515	56581213	24613997	139	6304											
PTPN2	5771	genome.wustl.edu	37	chr18	12859247	12859247	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcatgggactcatttcGaatttccttaaaataacaaa	16	13	5	7	1	2	0	2	0	0	0	4	2	3	1	1	1	1	0	1	1	6	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr18:12859247G>T	ENST00000309660.5	-	2	169	c.76C>A	c.(76-78)Cga>Aga	p.R26R	PTPN2_ENST00000327283.3_Silent_p.R26R|PTPN2_ENST00000353319.4_Silent_p.R26R|PTPN2_ENST00000589086.1_5'UTR|PTPN2_ENST00000591115.1_Silent_p.R26R	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	26	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)	p.R26*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GACTCATTTCGAATTTCCtta	0.358																																																	1	Substitution - Nonsense(1)	large_intestine(1)											88	73	78					18																	12859247		2203	4300	6503	SO:0001819	synonymous_variant	0			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.76C>A	18.37:g.12859247G>T			A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Silent	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R26	ENST00000309660.5	37	c.76	CCDS11865.1	18																																																																																			PTPN2	-	pirsf_Ptpn1/Ptpn2,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000175354		0.358	PTPN2-002	KNOWN	basic|CCDS	protein_coding	PTPN2	HGNC	protein_coding	OTTHUMT00000254613.3	-	0	49	0	G	NM_002828, NM_080422, NM_080423		12859247	-1	tier1	-	no_errors	ENST00000309660	ensembl	human	known	74_37	silent	23.44	49	15	SNP	1.000	T	T	12859247	G	T	12859247	2	4	24	1	0	0	0	0	0	0	0	1	12828	1066	37	2		2	PTPN2	18	12859247	Silent	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09		12859247	65218001	140	6305											
ESCO1	114799	genome.wustl.edu	37	chr18	19112452	19112452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttaggcattcaatcatgCgagaagcaattttcttccga	12	12	7	10	2	3	1	2	0	1	1	4	3	4	1	2	1	2	2	2	1	4	5			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr18:19112452C>T	ENST00000269214.5	-	11	3294	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	786					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCAATCATGCGAGAAGCAAT	0.403																																																	0													123	114	117					18																	19112452		2203	4300	6503	SO:0001583	missense	0			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2357G>A	18.37:g.19112452C>T	ENSP00000269214:p.Arg786His		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	NULL	p.R786H	ENST00000269214.5	37	c.2357	CCDS32800.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.393305	0.96009	.	.	ENSG00000141446	ENST00000269214	D	0.83335	-1.71	5.57	5.57	0.84162	.	0.063272	0.64402	D	0.000004	D	0.92077	0.7489	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92204	0.5770	10	0.56958	D	0.05	-6.3648	19.5519	0.95324	0.0:1.0:0.0:0.0	.	786	Q5FWF5	ESCO1_HUMAN	H	786	ENSP00000269214:R786H	ENSP00000269214:R786H	R	-	2	0	ESCO1	17366450	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.623000	0.88846	0.467000	0.42956	CGC	ESCO1	-	NULL	ENSG00000141446		0.403	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO1	HGNC	protein_coding	OTTHUMT00000443942.1		0	24	0	C	NM_052911		19112452	-1			no_errors	ENST00000269214	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	19112452	C	T	19112452	3	4	24	1	0	0	0	0	1	0	0	0	5264	768	27	1	173	1	ESCO1	18	19112452	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	6253205	19112452	58964796	141	6306											
MC4R	4160	genome.wustl.edu	37	chr18	58039556	58039556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggtgcagagaagtgtgCatcccacggtgggtggagtt	9	8	17	7	1	0	2	0	0	0	2	1	4	1	3	1	4	2	3	1	4	1	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr18:58039556C>T	ENST00000299766.3	-	1	445	c.27G>A	c.(25-27)atG>atA	p.M9I		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	9					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GAGAAGTGTGCATCCCACGGT	0.542																																																	0													45	44	44					18																	58039556		2203	4296	6499	SO:0001583	missense	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.27G>A	18.37:g.58039556C>T	ENSP00000299766:p.Met9Ile		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.M9I	ENST00000299766.3	37	c.27	CCDS11976.1	18	.	.	.	.	.	.	.	.	.	.	C	9.059	0.993986	0.19043	.	.	ENSG00000166603	ENST00000299766	T	0.56611	0.45	5.56	4.69	0.59074	.	0.236421	0.36234	N	0.002706	T	0.31104	0.0786	N	0.08118	0	0.36157	D	0.847839	B	0.02656	0.0	B	0.01281	0.0	T	0.28427	-1.0044	10	0.56958	D	0.05	.	9.0884	0.36596	0.0:0.8336:0.0:0.1664	.	9	P32245	MC4R_HUMAN	I	9	ENSP00000299766:M9I	ENSP00000299766:M9I	M	-	3	0	MC4R	56190536	0.460000	0.25776	0.996000	0.52242	0.852000	0.48524	1.009000	0.29886	1.501000	0.48654	-0.123000	0.14984	ATG	MC4R	-	prints_Mcort_rcpt_4	ENSG00000166603		0.542	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	-	0	68	0	C	NM_005912		58039556	-1	tier1	-	no_errors	ENST00000299766	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.997	T	T	58039556	C	T	58039556	3	4	24	1	0	0	0	0	1	0	0	0	9404	710	25	3	975	3	MC4R	18	58039556	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	38927104	58039556	20037692	142	6307											
PTPRS	5802	genome.wustl.edu	37	chr19	5214590	5214590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccgtgacttctcctccagCcgcgtcatcatgacgatggt	7	10	9	15	4	3	2	2	2	1	0	5	3	4	2	4	1	1	0	4	1	0	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:5214590C>T	ENST00000587303.1	-	28	4575	c.4476G>A	c.(4474-4476)cgG>cgA	p.R1492R	PTPRS_ENST00000592099.1_Silent_p.R1045R|PTPRS_ENST00000588012.1_Silent_p.R1454R|PTPRS_ENST00000348075.2_Silent_p.R1454R|PTPRS_ENST00000357368.4_Silent_p.R1492R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.R1472R|PTPRS_ENST00000372412.4_Silent_p.R1493R|PTPRS_ENST00000353284.2_Silent_p.R1045R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1492	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TCTCCTCCAGCCGCGTCATCA	0.632																																																	0													60	51	54					19																	5214590		2203	4300	6503	SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4476G>A	19.37:g.5214590C>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.R1493	ENST00000587303.1	37	c.4479	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000105426		0.632	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2		0	11	0	C			5214590	-1			no_errors	ENST00000372412	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.760	T	T	5214590	C	T	5214590	2	4	24	1	0	0	0	0	0	0	0	1	12856	726	26	3		3	PTPRS	19	5214590	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09		5214590	53914393	143	6308											
MUC16	94025	genome.wustl.edu	37	chr19	9084850	9084850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggggaagtggttggagcaGcagaggtgattgtccttctc	7	11	17	6	0	1	2	0	1	1	1	3	4	2	4	1	5	2	3	1	5	1	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:9084850G>A	ENST00000397910.4	-	1	7168	c.6965C>T	c.(6964-6966)gCt>gTt	p.A2322V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2322	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGGAGCAGCAGAGGTGAT	0.473																																																	0													92	94	93					19																	9084850		1989	4145	6134	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6965C>T	19.37:g.9084850G>A	ENSP00000381008:p.Ala2322Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A2322V	ENST00000397910.4	37	c.6965	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	6.374	0.437134	0.12104	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	0.225	0.225	0.15325	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	.	.	.	D	0.60575	0.988	P	0.59948	0.866	T	0.46275	-0.9203	7	0.87932	D	0	.	.	.	.	.	2322	B5ME49	.	V	2322	ENSP00000381008:A2322V	ENSP00000381008:A2322V	A	-	2	0	MUC16	8945850	0.001000	0.12720	0.287000	0.24848	0.293000	0.27360	-0.105000	0.10907	0.300000	0.22699	0.305000	0.20034	GCT	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	118	0	G	NM_024690		9084850	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	14.17	109	18	SNP	0.384	A	A	9084850	G	A	9084850	3	1	24	1	0	0	0	0	1	0	0	0	10011	971	34	3	36894	3	MUC16	19	9084850	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	3870260	9084850	50044133	144	6309											
MUC16	94025	genome.wustl.edu	37	chr19	9090486	9090486	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggactcttctccaggagcAgaggtctcaagtggagtcat	9	10	12	10	1	4	1	2	0	3	1	7	4	4	4	1	4	1	1	1	4	1	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:9090486A>T	ENST00000397910.4	-	1	1532	c.1329T>A	c.(1327-1329)tcT>tcA	p.S443S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	443	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCAGGAGCAGAGGTCTCAA	0.473																																																	0													175	163	167					19																	9090486		1952	4144	6096	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1329T>A	19.37:g.9090486A>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S443	ENST00000397910.4	37	c.1329	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	74	0	A	NM_024690		9090486	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.004	T	T	9090486	A	T	9090486	2	4	24	1	0	0	0	0	0	0	0	1	10011	175	7	5		5	MUC16	19	9090486	Silent	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	5636	9090486	50038497	145	6310											
EPOR	2057	genome.wustl.edu	37	chr19	11492471	11492471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagcgcaacactacgTggccgctctcgtcagccaac	9	5	11	16	4	2	0	1	0	1	0	3	1	2	1	3	2	6	2	3	2	3	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:11492471T>A	ENST00000222139.6	-	4	586	c.482A>T	c.(481-483)cAc>cTc	p.H161L	EPOR_ENST00000592375.2_Missense_Mutation_p.H161L	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	161	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CAACACTACGTGGCCGCTCTC	0.682											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23	21	22					19																	11492471		2202	4298	6500	SO:0001583	missense	0			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.482A>T	19.37:g.11492471T>A	ENSP00000222139:p.His161Leu	672	B2RCG4|Q15443|Q2M205	Missense_Mutation	SNP	pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.H161L	ENST00000222139.6	37	c.482	CCDS12260.1	19	.	.	.	.	.	.	.	.	.	.	T	9.977	1.227030	0.22542	.	.	ENSG00000187266	ENST00000222139	T	0.56776	0.44	4.9	3.81	0.43845	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.374166	0.30791	N	0.008867	T	0.33585	0.0868	L	0.27053	0.805	0.27875	N	0.939889	B	0.18863	0.031	B	0.12837	0.008	T	0.12268	-1.0554	10	0.16420	T	0.52	-30.5506	7.985	0.30207	0.0:0.0:0.2078:0.7922	.	161	P19235	EPOR_HUMAN	L	161	ENSP00000222139:H161L	ENSP00000222139:H161L	H	-	2	0	EPOR	11353471	1.000000	0.71417	0.992000	0.48379	0.049000	0.14656	2.694000	0.47035	1.853000	0.53794	0.254000	0.18369	CAC	EPOR	-	pirsf_Erythropoietin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187266		0.682	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	HGNC	protein_coding	OTTHUMT00000458791.1	-	0	29	0	T			11492471	-1	tier1	-	no_errors	ENST00000222139	ensembl	human	known	74_37	missense	66.67	25	50	SNP	0.827	A	A	11492471	T	A	11492471	3	1	24	1	0	0	0	0	1	0	0	0	5205	1696	59	5	1064	5	EPOR	19	11492471	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	2401985	11492471	47636512	146	6311											
FARSA	2193	genome.wustl.edu	37	chr19	13041426	13041427	+	Splice_Site	INS	-	-	A																															ttcaccccgcagctcctaccINSataagctcgctctgggccag																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:13041426_13041427insA	ENST00000314606.4	-	2	302_303	c.284_285insT	c.(283-285)atg>atTg	p.M95fs	FARSA_ENST00000588025.1_Splice_Site_p.M135fs|FARSA_ENST00000423140.2_Splice_Site_p.M95fs|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	95					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CAGCTCCTACCATAAGCTCGCT	0.634																																																	0																																										SO:0001630	splice_region_variant	0			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.285+1->T	19.37:g.13041427_13041427dupA			B4E363|Q9NSD8|Q9Y4W8	Frame_Shift_Ins	INS	pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu	p.M95fs	ENST00000314606.4	37	c.285_284	CCDS12287.1	19																																																																																			FARSA	-	NULL	ENSG00000179115		0.634	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	HGNC	protein_coding	OTTHUMT00000451935.1		0	34	0	-	NM_004461	Frame_Shift_Ins	13041427	-1	tier1		no_errors	ENST00000314606	ensembl	human	known	74_37	frame_shift_ins	15.00	68	12	INS	1.000:1.000	A	A	13041427	-	A	13041426	8	5	24	1	0	1	1	0	0	0	1	0	5701	608	21	0	1289	0	FARSA	19	13041426	Splice_Site	INS	-	TCGA-IG-A50L-01A-11D-A27G-09	1548955	13041426	46087557	147	6312											
CACNA1A	773	genome.wustl.edu	37	chr19	13345781	13345781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtccggaagttattgtGctcagtgatttggaactcat	10	13	12	6	1	2	1	2	1	0	0	3	4	3	3	1	3	2	2	1	3	4	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:13345781G>A	ENST00000360228.5	-	34	5202	c.5203C>T	c.(5203-5205)Cac>Tac	p.H1735Y	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.H1736Y	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1736					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTTATTGTGCTCAGTGATT	0.542											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													172	176	175					19																	13345781		2044	4189	6233	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5203C>T	19.37:g.13345781G>A	ENSP00000353362:p.His1735Tyr	686	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.H1735Y	ENST00000360228.5	37	c.5203	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910606	0.52439	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97430	-4.38	5.01	5.01	0.66863	Ion transport (1);	0.121440	0.56097	D	0.000039	D	0.97663	0.9234	L	0.46819	1.47	0.80722	D	1	B;B;D;B	0.76494	0.198;0.296;0.999;0.344	B;B;D;B	0.83275	0.19;0.223;0.996;0.227	D	0.98908	1.0779	10	0.87932	D	0	.	17.1472	0.86769	0.0:0.0:1.0:0.0	.	1736;1741;1735;1736	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	Y	1735;1741;1736;1736	ENSP00000353362:H1735Y	ENSP00000317661:H1736Y	H	-	1	0	CACNA1A	13206781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.996000	0.88334	2.336000	0.79503	0.551000	0.68910	CAC	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.542	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	33	0	G	NM_000068		13345781	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	13345781	G	A	13345781	3	1	24	1	0	0	0	0	1	0	0	0	2545	1319	46	3	2474	3	CACNA1A	19	13345781	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	304355	13345781	45783202	148	6313											
F2RL3	9002	genome.wustl.edu	37	chr19	17001241	17001241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctctatggtgcctacGtgcccagcctggcgctgagc	6	8	12	15	2	1	1	0	1	1	0	1	1	1	1	4	2	6	2	4	2	3	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:17001241G>C	ENST00000248076.3	+	2	1297	c.967G>C	c.(967-969)Gtg>Ctg	p.V323L		NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	323					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGGTGCCTACGTGCCCAGCCT	0.647																																																	0													30	28	29					19																	17001241		2202	4298	6500	SO:0001583	missense	0			AF055917	CCDS12350.1	19p12	2012-08-08						"GPCR / Class A : Protease activated receptors"	3540	protein-coding gene	gene with protein product	"proteinase-activated receptor-4"	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.967G>C	19.37:g.17001241G>C	ENSP00000248076:p.Val323Leu		O76067|Q6DK42	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.V323L	ENST00000248076.3	37	c.967	CCDS12350.1	19	.	.	.	.	.	.	.	.	.	.	G	6.044	0.376455	0.11466	.	.	ENSG00000127533	ENST00000248076	T	0.35973	1.28	4.15	-4.63	0.03359	GPCR, rhodopsin-like superfamily (1);	0.242826	0.29987	U	0.010696	T	0.11495	0.0280	N	0.11341	0.13	0.30514	N	0.769087	B	0.15473	0.013	B	0.17722	0.019	T	0.38628	-0.9652	10	0.02654	T	1	.	6.0953	0.20017	0.3948:0.4294:0.1758:0.0	.	323	Q96RI0	PAR4_HUMAN	L	323	ENSP00000248076:V323L	ENSP00000248076:V323L	V	+	1	0	F2RL3	16862241	0.001000	0.12720	0.789000	0.31954	0.041000	0.13682	-0.277000	0.08502	-0.800000	0.04433	-0.339000	0.08088	GTG	F2RL3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_4,prints_GPCR_Rhodpsn	ENSG00000127533		0.647	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL3	HGNC	protein_coding	OTTHUMT00000462875.1		0	23	0	G			17001241	1			no_errors	ENST00000248076	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.986	C	C	17001241	G	C	17001241	3	2	24	1	0	0	0	0	1	0	0	0	5362	1145	40	5	973	5	F2RL3	19	17001241	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	3655460	17001241	42127742	149	6314											
MYO9B	4650	genome.wustl.edu	37	chr19	17294679	17294680	+	Splice_Site	INS	-	-	A																															aagcagatcattccaaaggtINSaaaaaaaaaaacacaccccg																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:17294679_17294680insA	ENST00000594824.1	+	16	2520		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411																																																	2	Unknown(2)	soft_tissue(2)																																								SO:0001630	splice_region_variant	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2373+2->A	19.37:g.17294690_17294690dupA			O75314|Q9NUJ2|Q9UHN0	Splice_Site	INS	-	e15+2	ENST00000594824.1	37	c.2373+2_2373+1		19																																																																																			MYO9B	-	-	ENSG00000099331		0.411	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0	16	0	-		Intron	17294680	1	tier1		no_errors	ENST00000594824	ensembl	human	known	74_37	splice_site_ins	16.00	21	4	INS	1.000:1.000	A	A	17294680	-	A	17294679	8	5	24	1	0	1	1	0	0	0	1	0	10123	1652	57	0	2433	0	MYO9B	19	17294679	Splice_Site	INS	-	TCGA-IG-A50L-01A-11D-A27G-09	293438	17294679	41834304	150	6315											
FAM125A	93343	genome.wustl.edu	37	chr19	17534317	17534317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtccagggacatgggcGgctttgccatctggtgcaag	6	9	15	11	1	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	1	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:17534317G>A	ENST00000317040.7	+	5	1479	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	MVB12A_ENST00000529939.1_Missense_Mutation_p.G142S|MVB12A_ENST00000543795.1_Missense_Mutation_p.G142S|MVB12A_ENST00000528515.1_Silent_p.A99A|MVB12A_ENST00000392702.2_Intron|CTD-2521M24.6_ENST00000593957.1_RNA			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	142	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										GGACATGGGCGGCTTTGCCAT	0.682																																																	0													45	50	48					19																	17534317		2203	4300	6503	SO:0001583	missense	0			BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"family with sequence similarity 125, member A"	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.424G>A	19.37:g.17534317G>A	ENSP00000324810:p.Gly142Ser		Q96I18	Missense_Mutation	SNP	pfam_FAM125	p.G142S	ENST00000317040.7	37	c.424	CCDS12359.1	19	.	.	.	.	.	.	.	.	.	.	.	17.57	3.422553	0.62622	.	.	ENSG00000141971	ENST00000528911;ENST00000528604;ENST00000317040;ENST00000529939;ENST00000543795	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.82	4.82	0.62117	MABP domain (1);	0.048359	0.85682	D	0.000000	T	0.44932	0.1317	L	0.31294	0.92	0.43667	D	0.996095	D	0.67145	0.996	P	0.54401	0.751	T	0.18999	-1.0319	10	0.11182	T	0.66	-3.2248	13.4651	0.61249	0.0:0.0:1.0:0.0	.	142	Q96EY5	F125A_HUMAN	S	50;3;142;142;142	ENSP00000433280:G50S;ENSP00000435052:G3S;ENSP00000324810:G142S;ENSP00000432526:G142S;ENSP00000444653:G142S	ENSP00000324810:G142S	G	+	1	0	FAM125A	17395317	0.998000	0.40836	0.988000	0.46212	0.959000	0.62525	3.363000	0.52321	2.245000	0.73994	0.558000	0.71614	GGC	MVB12A	-	pfam_FAM125	ENSG00000141971		0.682	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVB12A	HGNC	protein_coding	OTTHUMT00000388723.2	-	0	39	0	G	NM_138401		17534317	1	tier1	-	no_errors	ENST00000317040	ensembl	human	known	74_37	missense	19.67	49	12	SNP	0.984	A	A	17534317	G	A	17534317	3	1	24	1	0	0	0	0	1	0	0	0	5446	1116	39	1	442	1	FAM125A	19	17534317	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	239638	17534317	41594666	151	6316											
ZNF90	7643	genome.wustl.edu	37	chr19	20228869	20228870	+	Frame_Shift_Ins	INS	-	-	A																															cataagataagagatactggINSaaaaaaacctttcaaatgta																										TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:20228869_20228870insA	ENST00000418063.2	+	4	618_619	c.506_507insA	c.(505-510)ggaaaafs	p.GK169fs	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	169					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AGAGATACTGGAAAAAAACCTT	0.342																																																	0										1,4117		0,1,2058						-0.4	0			30	1,8173		0,1,4086	no	frameshift	ZNF90	NM_007138.1		0,2,6144	A1A1,A1R,RR		0.0122,0.0243,0.0163				2,12290				SO:0001589	frameshift_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.513dupA	19.37:g.20228876_20228876dupA	ENSP00000410466:p.Gly169fs		B9EH87	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P172fs	ENST00000418063.2	37	c.506_507	CCDS46028.1	19																																																																																			ZNF90	-	NULL	ENSG00000213988		0.342	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1		0	47	0	-	NM_007138		20228870	1	tier1		no_errors	ENST00000418063	ensembl	human	known	74_37	frame_shift_ins	13.56	51	8	INS	0.965:0.952	A	A	20228870	-	A	20228869	7	5	24	1	0	1	1	0	0	0	0	0	18247	1174	41	0	520	0	ZNF90	19	20228869	Frame_Shift_Ins	INS	-	TCGA-IG-A50L-01A-11D-A27G-09	2694552	20228869	38900114	152	6317											
ZNF676	163223	genome.wustl.edu	37	chr19	22363052	22363052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtttagtaaggattgaGaacgtactaaagcctttgcc	12	14	9	6	1	0	1	0	1	0	1	0	3	0	2	2	1	4	3	2	1	7	8			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:22363052G>T	ENST00000397121.2	-	3	1784	c.1467C>A	c.(1465-1467)ttC>ttA	p.F489L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	489					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGATTGAGAACGTACTAA	0.408																																																	0													80	85	83					19																	22363052		2161	4277	6438	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1467C>A	19.37:g.22363052G>T	ENSP00000380310:p.Phe489Leu		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F489L	ENST00000397121.2	37	c.1467	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	1.320	-0.599652	0.03744	.	.	ENSG00000196109	ENST00000397121	T	0.33654	1.4	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09992	0.0245	N	0.01446	-0.86	0.09310	N	1	B	0.24317	0.101	B	0.17979	0.02	T	0.21965	-1.0230	9	0.34782	T	0.22	.	0.1492	0.00091	0.2463:0.2473:0.2584:0.2481	.	489	Q8N7Q3	ZN676_HUMAN	L	489	ENSP00000380310:F489L	ENSP00000380310:F489L	F	-	3	2	ZNF676	22154892	0.000000	0.05858	0.006000	0.13384	0.006000	0.05464	-4.384000	0.00242	0.181000	0.19994	0.184000	0.17185	TTC	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	29	0	G	NM_001001411		22363052	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	35.00	39	21	SNP	0.000	T	T	22363052	G	T	22363052	3	4	24	1	0	0	0	0	1	0	0	0	18131	933	33	3	303	3	ZNF676	19	22363052	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	2134183	22363052	36765931	153	6318											
ZNF676	163223	genome.wustl.edu	37	chr19	22363760	22363760	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccacattcttcacatttGtagggtttctctccagtatg	7	17	7	10	0	3	0	1	0	2	0	5	0	4	0	2	1	1	3	2	1	2	7			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:22363760G>T	ENST00000397121.2	-	3	1076	c.759C>A	c.(757-759)taC>taA	p.Y253*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCACATTTGTAGGGTTTCT	0.383																																																	0													77	85	82					19																	22363760		2165	4280	6445	SO:0001587	stop_gained	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.759C>A	19.37:g.22363760G>T	ENSP00000380310:p.Tyr253*		A8MVX5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y253*	ENST00000397121.2	37	c.759	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	18.84	3.709501	0.68730	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.85	-0.442	0.12253	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5685	0.12198	0.4815:0.0:0.5185:0.0	.	.	.	.	X	253	.	ENSP00000380310:Y253X	Y	-	3	2	ZNF676	22155600	0.000000	0.05858	0.021000	0.16686	0.021000	0.10359	-0.063000	0.11655	0.192000	0.20272	0.195000	0.17529	TAC	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.383	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	58	0	G	NM_001001411		22363760	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	nonsense	8.57	64	6	SNP	0.519	T	T	22363760	G	T	22363760	4	4	24	1	0	0	0	0	0	1	0	0	18131	1372	48	3	1011	3	ZNF676	19	22363760	Nonsense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	708	22363760	36765223	154	6319											
TSHZ3	57616	genome.wustl.edu	37	chr19	31770292	31770292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggctggtgcaggttgAggttgaggttggaccagtag	8	9	20	4	0	0	2	0	2	0	0	0	4	0	4	1	7	1	6	1	7	1	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:31770292A>G	ENST00000240587.4	-	2	734	c.407T>C	c.(406-408)cTc>cCc	p.L136P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	136					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGCAGGTTGAGGTTGAGGTT	0.592																																																	0													122	124	123					19																	31770292		2198	4293	6491	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.407T>C	19.37:g.31770292A>G	ENSP00000240587:p.Leu136Pro		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L136P	ENST00000240587.4	37	c.407	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979312	0.53827	.	.	ENSG00000121297	ENST00000240587	T	0.19532	2.14	5.77	5.77	0.91146	.	0.228459	0.28465	U	0.015252	T	0.33789	0.0875	L	0.57536	1.79	0.80722	D	1	D	0.55385	0.971	P	0.50440	0.641	T	0.07578	-1.0765	10	0.87932	D	0	-22.5273	16.0947	0.81112	1.0:0.0:0.0:0.0	.	136	Q63HK5	TSH3_HUMAN	P	136	ENSP00000240587:L136P	ENSP00000240587:L136P	L	-	2	0	TSHZ3	36462132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.903000	0.92573	2.182000	0.69389	0.528000	0.53228	CTC	TSHZ3	-	NULL	ENSG00000121297		0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2		0	72	0	A	NM_020856		31770292	-1			no_errors	ENST00000240587	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	G	G	31770292	A	G	31770292	3	3	24	1	0	0	0	0	1	0	0	0	16673	304	11	4	2842	4	TSHZ3	19	31770292	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	9406532	31770292	27358691	155	6320											
KRTDAP	388533	genome.wustl.edu	37	chr19	35978335	35978335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaggtcatggtcactGggcatcaggagttgcgctcc	7	9	15	10	1	3	0	3	0	0	0	4	2	4	2	1	5	1	3	1	5	0	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:35978335G>T	ENST00000338897.3	-	6	383	c.295C>A	c.(295-297)Cag>Aag	p.Q99K	KRTDAP_ENST00000479340.1_5'UTR|KRTDAP_ENST00000484218.2_Missense_Mutation_p.Q85K	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	99					cell differentiation (GO:0030154)	extracellular region (GO:0005576)				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGGTCACTGGGCATCAGGA	0.542																																																	0													129	123	125					19																	35978335		2203	4300	6503	SO:0001583	missense	0			AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.295C>A	19.37:g.35978335G>T	ENSP00000339251:p.Gln99Lys		A1L4D7	Missense_Mutation	SNP	NULL	p.Q99K	ENST00000338897.3	37	c.295	CCDS12462.1	19	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715023	0.48622	.	.	ENSG00000188508	ENST00000338897	.	.	.	5.67	2.24	0.28232	.	0.333888	0.26003	N	0.026933	T	0.36991	0.0987	.	.	.	0.30860	N	0.733591	B	0.30146	0.27	B	0.31812	0.136	T	0.40776	-0.9545	8	0.87932	D	0	-31.4114	6.4283	0.21782	0.085:0.0:0.5938:0.3211	.	99	P60985	KTDAP_HUMAN	K	99	.	ENSP00000339251:Q99K	Q	-	1	0	KRTDAP	40670175	1.000000	0.71417	0.373000	0.26003	0.109000	0.19521	0.872000	0.28037	0.291000	0.22468	0.655000	0.94253	CAG	KRTDAP	-	NULL	ENSG00000188508		0.542	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTDAP	HGNC	protein_coding	OTTHUMT00000340164.1	-	0	79	0	G			35978335	-1	tier1	-	no_errors	ENST00000338897	ensembl	human	known	74_37	missense	36.59	52	30	SNP	0.875	T	T	35978335	G	T	35978335	3	4	24	1	0	0	0	0	1	0	0	0	8608	1357	47	3	8	3	KRTDAP	19	35978335	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	4208043	35978335	23150648	156	6321											
ZNF616	90317	genome.wustl.edu	37	chr19	52619109	52619109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatttattgcatttgtaAgttttctgtccagtatgaat	10	18	6	7	0	1	1	0	1	1	0	2	1	2	1	2	0	1	4	2	0	4	8			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:52619109A>G	ENST00000600228.1	-	4	1569	c.1308T>C	c.(1306-1308)acT>acC	p.T436T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGCATTTGTAAGTTTTCTGTC	0.393																																																	0													152	132	139					19																	52619109		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1308T>C	19.37:g.52619109A>G			B3KRV1|Q0P658|Q658V7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T436	ENST00000600228.1	37	c.1308	CCDS33090.1	19																																																																																			ZNF616	-	pfscan_Znf_C2H2	ENSG00000204611		0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0	45	0	A	XM_030892		52619109	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	silent	15.38	33	6	SNP	0.209	G	G	52619109	A	G	52619109	2	3	24	1	0	0	0	0	0	0	0	1	18089	59	3	4		4	ZNF616	19	52619109	Silent	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	16640774	52619109	6509874	157	6322											
ZNF880	400713	genome.wustl.edu	37	chr19	52887840	52887840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcaaagcattttcaggggGttcaggccttactgctcatc	8	12	11	10	0	3	0	3	0	0	0	4	0	3	0	1	4	3	4	1	4	2	4			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:52887840G>A	ENST00000422689.2	+	4	1022	c.1007G>A	c.(1006-1008)gGt>gAt	p.G336D		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	336					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TTTTCAGGGGGTTCAGGCCTT	0.403																																																	0													37	36	36					19																	52887840		692	1591	2283	SO:0001583	missense	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1007G>A	19.37:g.52887840G>A	ENSP00000406318:p.Gly336Asp		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G336D	ENST00000422689.2	37	c.1007	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242265	0.10077	.	.	ENSG00000221923	ENST00000422689	T	0.07444	3.19	1.89	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.19112	0.55	0.09310	N	1	B	0.27498	0.18	B	0.28139	0.086	T	0.41070	-0.9529	8	.	.	.	.	1.282	0.02043	0.2278:0.1638:0.4418:0.1665	.	336	Q6PDB4	ZN880_HUMAN	D	336	ENSP00000406318:G336D	.	G	+	2	0	ZNF880	57579652	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.143000	0.01297	-1.706000	0.01404	-0.506000	0.04501	GGT	ZNF880	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221923		0.403	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	46	0	G	NM_001145434		52887840	1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.000	A	A	52887840	G	A	52887840	3	1	24	1	0	0	0	0	1	0	0	0	18245	1261	44	3	1021	3	ZNF880	19	52887840	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	268731	52887840	6241143	158	6323											
DPRX	503834	genome.wustl.edu	37	chr19	54139880	54139880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcacagagcaaaactcAagaaagcgaaatgcaagcat	21	4	8	8	1	2	3	2	0	0	3	2	4	2	3	0	0	5	3	0	0	7	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:54139880A>G	ENST00000376650.1	+	3	265	c.214A>G	c.(214-216)Aag>Gag	p.K72E		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGCAAAACTCAAGAAAGCGAA	0.423																																																	0													75	74	74					19																	54139880		2203	4300	6503	SO:0001583	missense	0				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.214A>G	19.37:g.54139880A>G	ENSP00000365838:p.Lys72Glu			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.K72E	ENST00000376650.1	37	c.214	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	a	9.484	1.098864	0.20552	.	.	ENSG00000204595	ENST00000376650	D	0.98296	-4.85	1.45	1.45	0.22620	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	.	.	.	.	D	0.98845	0.9610	H	0.95043	3.615	0.09310	N	1	D	0.59357	0.985	P	0.62382	0.901	D	0.94650	0.7838	9	0.87932	D	0	.	5.0324	0.14417	1.0:0.0:0.0:0.0	.	72	A6NFQ7	DPRX_HUMAN	E	72	ENSP00000365838:K72E	ENSP00000365838:K72E	K	+	1	0	DPRX	58831692	0.615000	0.27026	0.020000	0.16555	0.220000	0.24768	0.440000	0.21592	0.918000	0.36919	0.459000	0.35465	AAG	DPRX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000204595		0.423	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	-	0	40	0	A	NM_001012728		54139880	1	tier1	-	no_errors	ENST00000376650	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.036	G	G	54139880	A	G	54139880	3	3	24	1	0	0	0	0	1	0	0	0	4752	131	5	4	224	4	DPRX	19	54139880	Missense_Mutation	SNP	A	TCGA-IG-A50L-01A-11D-A27G-09	1252040	54139880	4989103	159	6324											
BRSK1	84446	genome.wustl.edu	37	chr19	55817695	55817695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagtggcggcccctccGtcttccaaaagcccgtccgc	6	6	11	18	4	1	0	0	0	1	0	4	0	4	0	7	3	1	0	7	3	2	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr19:55817695G>A	ENST00000309383.1	+	17	2243	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I	BRSK1_ENST00000590333.1_Missense_Mutation_p.V672I|BRSK1_ENST00000326848.7_Missense_Mutation_p.V351I	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	656					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.V656I(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CGGCCCCTCCGTCTTCCAAAA	0.637																																																	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)											58	57	57					19																	55817695		2203	4300	6503	SO:0001583	missense	0			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1966G>A	19.37:g.55817695G>A	ENSP00000310649:p.Val656Ile		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.V672I	ENST00000309383.1	37	c.2014	CCDS12921.1	19	.	.	.	.	.	.	.	.	.	.	.	23.9	4.466384	0.84425	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73789	-0.78;1.74	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000003	D	0.84946	0.5585	M	0.69358	2.11	0.54753	D	0.999987	D;D	0.71674	0.997;0.998	D;D	0.73708	0.959;0.981	D	0.86005	0.1497	10	0.62326	D	0.03	.	17.7465	0.88422	0.0:0.0:1.0:0.0	.	656;672	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	I	656;351;351	ENSP00000310649:V656I;ENSP00000320853:V351I	ENSP00000310649:V656I	V	+	1	0	BRSK1	60509507	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.189000	0.94928	2.572000	0.86782	0.555000	0.69702	GTC	BRSK1	-	NULL	ENSG00000160469		0.637	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRSK1	HGNC	protein_coding	OTTHUMT00000452787.1	-	0	42	0	G	NM_032430		55817695	1	tier1	-	no_errors	ENST00000590333	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	A	A	55817695	G	A	55817695	3	1	24	1	0	0	0	0	1	0	0	0	1527	1145	40	1	2032	1	BRSK1	19	55817695	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	1677815	55817695	3311288	160	6325											
KIF16B	55614	genome.wustl.edu	37	chr20	16488617	16488617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacctgagtgaacttgaTggtgaagatggcatgagacc	11	10	12	8	0	0	6	0	5	0	2	0	7	0	6	3	2	2	1	3	2	3	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr20:16488617T>C	ENST00000354981.2	-	7	842	c.685A>G	c.(685-687)Atc>Gtc	p.I229V	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.I229V|KIF16B_ENST00000408042.1_Missense_Mutation_p.I229V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	229	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTGAACTTGATGGTGAAGATG	0.527																																																	0													208	169	182					20																	16488617		2203	4300	6503	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.685A>G	20.37:g.16488617T>C	ENSP00000347076:p.Ile229Val		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.I229V	ENST00000354981.2	37	c.685	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057588	0.55325	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.76968	-1.06;-1.06;-1.06	5.84	5.84	0.93424	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	T	0.71592	0.3358	L	0.45744	1.44	0.80722	D	1	B;B;B;B	0.24092	0.025;0.097;0.011;0.014	B;B;B;B	0.23419	0.019;0.046;0.012;0.021	T	0.69942	-0.5008	10	0.59425	D	0.04	.	11.2771	0.49174	0.0:0.0706:0.0:0.9294	.	229;229;229;229	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	V	229	ENSP00000347076:I229V;ENSP00000347995:I229V;ENSP00000384164:I229V	ENSP00000347076:I229V	I	-	1	0	KIF16B	16436617	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.166000	0.64965	2.230000	0.72887	0.455000	0.32223	ATC	KIF16B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000089177		0.527	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	-	0	44	0	T	NM_017683		16488617	-1	tier1	-	no_errors	ENST00000408042	ensembl	human	known	74_37	missense	22.22	42	12	SNP	1.000	C	C	16488617	T	C	16488617	3	2	24	1	0	0	0	0	1	0	0	0	8305	1464	51	4	3348	4	KIF16B	20	16488617	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09		16488617	46536903	161	6326											
PCSK2	5126	genome.wustl.edu	37	chr20	17208123	17208123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacacggctttggagtccGaaaggtaagctctcccatgc	11	8	11	11	2	1	1	0	0	1	1	3	3	2	2	2	3	3	3	2	3	3	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr20:17208123G>A	ENST00000262545.2	+	1	488	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	PCSK2_ENST00000377899.1_Missense_Mutation_p.R39Q|PCSK2_ENST00000536609.1_Missense_Mutation_p.R58Q	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	58					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTGGAGTCCGAAAGGTAAGC	0.522																																																	0													57	49	52					20																	17208123		2203	4300	6503	SO:0001583	missense	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.173G>A	20.37:g.17208123G>A	ENSP00000262545:p.Arg58Gln		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R58Q	ENST00000262545.2	37	c.173	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953649	0.53293	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.74106	1.5;1.5;-0.81	5.46	5.46	0.80206	Proteinase inhibitor, propeptide (1);	0.334685	0.27797	N	0.017807	T	0.70237	0.3201	L	0.54323	1.7	0.49213	D	0.99976	D;P	0.53885	0.963;0.899	B;B	0.40825	0.341;0.297	T	0.71213	-0.4659	10	0.33141	T	0.24	-7.6583	16.807	0.85708	0.0:0.0:1.0:0.0	.	58;58	B4DFQ3;P16519	.;NEC2_HUMAN	Q	39;58;58	ENSP00000367131:R39Q;ENSP00000262545:R58Q;ENSP00000437458:R58Q	ENSP00000262545:R58Q	R	+	2	0	PCSK2	17156123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.230000	0.72301	2.587000	0.87381	0.655000	0.94253	CGA	PCSK2	-	superfamily_Prot_inh_propept	ENSG00000125851		0.522	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2		0	13	0	G	NM_002594		17208123	1			no_errors	ENST00000262545	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	A	A	17208123	G	A	17208123	3	1	24	1	0	0	0	0	1	0	0	0	11640	1058	37	1	175	1	PCSK2	20	17208123	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	719506	17208123	45817397	162	6327											
L3MBTL	26013	genome.wustl.edu	37	chr20	42157355	42157355	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctagaggagcagaaggcCattactgctccagtcagcct	11	8	10	12	0	1	2	1	0	0	2	2	3	2	3	4	2	5	2	4	2	4	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr20:42157355C>A	ENST00000427442.2	+	8	1014	c.855C>A	c.(853-855)gcC>gcA	p.A285A	L3MBTL1_ENST00000373135.3_Silent_p.A217A|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000418998.1_Silent_p.A285A|L3MBTL1_ENST00000373134.1_Silent_p.A217A|L3MBTL1_ENST00000444063.1_Silent_p.A217A			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	217					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGCAGAAGGCCATTACTGCTC	0.552																																																	0													120	100	107					20																	42157355		2203	4300	6503	SO:0001819	synonymous_variant	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.855C>A	20.37:g.42157355C>A			B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.A285	ENST00000427442.2	37	c.855	CCDS46602.2	20																																																																																			L3MBTL1	-	smart_Mbt,pfscan_Mbt	ENSG00000185513		0.552	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3		0	33	0	C	NM_032107		42157355	1			no_errors	ENST00000418998	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.119	A	A	42157355	C	A	42157355	2	1	24	1	0	0	0	0	0	0	0	1	8619	581	21	3		3	L3MBTL	20	42157355	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	24949232	42157355	20868165	163	6328											
WFDC8	90199	genome.wustl.edu	37	chr20	44187625	44187625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgggacataaccctGgtttgtctgcaagaaagaaa	12	12	9	8	0	2	2	0	0	2	2	3	3	2	3	1	2	2	2	1	2	4	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr20:44187625G>T	ENST00000357199.4	-	3	221	c.143C>A	c.(142-144)cCa>cAa	p.P48Q	WFDC8_ENST00000289953.2_Missense_Mutation_p.P48Q|RNA5SP485_ENST00000365053.1_RNA	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	48	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				ACATAACCCTGGTTTGTCTGC	0.428																																																	0													147	138	141					20																	44187625		2203	4300	6503	SO:0001583	missense	0			AL031663	CCDS13361.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000158901	ENSG00000158901		"WAP four-disulfide core domain containing"	16163	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 170"	C20orf170		12206714	Standard	NM_130896		Approved	dJ461P17.1, WAP8	uc002xow.3	Q8IUA0	OTTHUMG00000046342	ENST00000357199.4:c.143C>A	20.37:g.44187625G>T	ENSP00000361735:p.Pro48Gln		E1P623|Q5TDV2|Q96A34	Missense_Mutation	SNP	pfam_WAP-type_4-diS_core,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,prints_WAP-type_4-diS_core	p.P48Q	ENST00000357199.4	37	c.143	CCDS13361.1	20	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255158	0.59321	.	.	ENSG00000158901	ENST00000357199;ENST00000289953	T;T	0.74106	-0.81;-0.81	4.4	3.44	0.39384	Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	0.418487	0.20580	N	0.089543	D	0.82788	0.5113	M	0.75150	2.29	0.26015	N	0.981938	D	0.89917	1.0	D	0.79108	0.992	T	0.72584	-0.4249	10	0.72032	D	0.01	.	7.6164	0.28160	0.116:0.0:0.884:0.0	.	48	Q8IUA0	WFDC8_HUMAN	Q	48	ENSP00000361735:P48Q;ENSP00000289953:P48Q	ENSP00000289953:P48Q	P	-	2	0	WFDC8	43621039	1.000000	0.71417	0.981000	0.43875	0.124000	0.20399	0.996000	0.29719	1.418000	0.47098	0.655000	0.94253	CCA	WFDC8	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core	ENSG00000158901		0.428	WFDC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC8	HGNC	protein_coding	OTTHUMT00000106958.1	-	0	60	0	G			44187625	-1	tier1	-	no_errors	ENST00000289953	ensembl	human	known	74_37	missense	9.52	57	6	SNP	0.986	T	T	44187625	G	T	44187625	3	4	24	1	0	0	0	0	1	0	0	0	17405	1348	47	3	598	3	WFDC8	20	44187625	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	2030270	44187625	18837895	164	6329											
ZNF335	63925	genome.wustl.edu	37	chr20	44598230	44598230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacaagtgctgggggaccgCctgtcacccctgccactggc	6	6	13	16	1	1	0	1	0	0	0	1	1	1	1	5	3	2	2	5	3	1	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr20:44598230C>G	ENST00000322927.2	-	3	402	c.302G>C	c.(301-303)gGc>gCc	p.G101A	ZNF335_ENST00000494955.1_5'Flank|ZNF335_ENST00000426788.1_Intron	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	101			G -> S (in dbSNP:rs6094231).		brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGGGGGACCGCCTGTCACCCC	0.617											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	62	61					20																	44598230		2203	4300	6503	SO:0001583	missense	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.302G>C	20.37:g.44598230C>G	ENSP00000325326:p.Gly101Ala	925	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G101A	ENST00000322927.2	37	c.302	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066743	0.55539	.	.	ENSG00000198026	ENST00000322927	T	0.06768	3.26	4.67	2.63	0.31362	.	0.143602	0.47852	N	0.000209	T	0.04272	0.0118	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.40365	-0.9567	10	0.30854	T	0.27	-9.9337	4.9553	0.14036	0.0:0.6342:0.1753:0.1905	.	101	Q9H4Z2	ZN335_HUMAN	A	101	ENSP00000325326:G101A	ENSP00000325326:G101A	G	-	2	0	ZNF335	44031637	0.489000	0.26004	0.024000	0.17045	0.862000	0.49288	1.040000	0.30278	1.183000	0.42943	0.563000	0.77884	GGC	ZNF335	-	NULL	ENSG00000198026		0.617	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0	34	0	C	NM_022095		44598230	-1	tier1	-	no_errors	ENST00000322927	ensembl	human	known	74_37	missense	15.22	39	7	SNP	0.501	G	G	44598230	C	G	44598230	3	3	24	1	0	0	0	0	1	0	0	0	17900	739	26	5	3830	5	ZNF335	20	44598230	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	410605	44598230	18427290	165	6330											
SON	6651	genome.wustl.edu	37	chr21	34924731	34924731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgtcagcttatgaacgctCcatgatgtcagcttatgaac	11	12	9	9	1	2	3	2	3	0	0	3	4	3	3	1	0	4	3	1	0	4	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr21:34924731C>A	ENST00000356577.4	+	3	3669	c.3194C>A	c.(3193-3195)tCc>tAc	p.S1065Y	SON_ENST00000381679.4_Missense_Mutation_p.S1065Y|SON_ENST00000290239.6_Missense_Mutation_p.S1065Y|SON_ENST00000300278.4_Missense_Mutation_p.S1065Y|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1065	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TATGAACGCTCCATGATGTCA	0.502																																																	0													132	123	126					21																	34924731		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3194C>A	21.37:g.34924731C>A	ENSP00000348984:p.Ser1065Tyr		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.S1065Y	ENST00000356577.4	37	c.3194	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.47|14.47	2.544066|2.544066	0.45280|0.45280	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.32272	.|1.46;1.46;1.46;1.46	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.53938	.|D	.|0.000056	T|T	0.56485|0.56485	0.1988|0.1988	M|M	0.68593|0.68593	2.085|2.085	0.34696|0.34696	D|D	0.726205|0.726205	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;0.999;1.0;1.0	.|D;D;D;D;D	.|0.87578	.|0.998;0.996;0.978;0.998;0.998	T|T	0.64837|0.64837	-0.6313|-0.6313	5|10	.|0.72032	.|D	.|0.01	.|.	18.1147|18.1147	0.89549|0.89549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1065;1065;746;1065;1065	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	T|Y	60|1065	.|ENSP00000348984:S1065Y;ENSP00000290239:S1065Y;ENSP00000300278:S1065Y;ENSP00000371095:S1065Y	.|ENSP00000290239:S1065Y	P|S	+|+	1|2	0|0	SON|SON	33846601|33846601	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.697000|2.697000	0.47060|0.47060	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CCA|TCC	SON	-	NULL	ENSG00000159140		0.502	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0	39	0	C	NM_138927		34924731	1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	A	A	34924731	C	A	34924731	3	1	24	1	0	0	0	0	1	0	0	0	14971	855	30	3	3204	3	SON	21	34924731	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09		34924731	13205164	166	6331											
MICAL3	57553	genome.wustl.edu	37	chr22	18300260	18300260	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaggttggagctgggctTctccgggggccggccctcgc	3	8	18	12	3	1	0	0	0	1	0	3	2	1	2	3	7	1	3	3	7	1	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr22:18300260T>C	ENST00000441493.2	-	26	5519	c.5167A>G	c.(5167-5169)Aag>Gag	p.K1723E	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1723					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGCTGGGCTTCTCCGGGGGC	0.592																																																	0													30	33	32					22																	18300260		1867	4098	5965	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5167A>G	22.37:g.18300260T>C	ENSP00000416015:p.Lys1723Glu		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K1723E	ENST00000441493.2	37	c.5167	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	8.124	0.781565	0.16120	.	.	ENSG00000093100	ENST00000441493	T	0.66995	-0.24	4.65	3.58	0.41010	.	0.448292	0.22834	N	0.055079	T	0.47340	0.1440	L	0.27053	0.805	0.80722	D	1	B	0.30741	0.293	B	0.25140	0.058	T	0.27773	-1.0064	10	0.10636	T	0.68	.	11.2404	0.48966	0.0:0.0:0.1537:0.8463	.	1723	Q7RTP6	MICA3_HUMAN	E	1723	ENSP00000416015:K1723E	ENSP00000416015:K1723E	K	-	1	0	XXbac-B461K10.4	16680260	1.000000	0.71417	0.695000	0.30226	0.032000	0.12392	2.536000	0.45693	0.769000	0.33313	0.459000	0.35465	AAG	MICAL3	-	NULL	ENSG00000243156		0.592	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1		0	24	0	T			18300260	-1			no_errors	ENST00000441493	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.916	C	C	18300260	T	C	18300260	3	2	24	1	0	0	0	0	1	0	0	0	9609	1792	62	4	869	4	MICAL3	22	18300260	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09		18300260	33004306	167	6332											
CLTCL1	8218	genome.wustl.edu	37	chr22	19175595	19175595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaggcttcaccaggggcagCtgacctgcctgacaagttga	10	8	12	11	0	1	3	1	3	0	0	1	3	1	3	3	3	2	4	3	3	2	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr22:19175595C>T	ENST00000263200.10	-	28	4404	c.4332G>A	c.(4330-4332)caG>caA	p.Q1444Q	CLTCL1_ENST00000353891.5_Silent_p.Q1444Q|CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Silent_p.Q1444Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1444	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCAGGGGCAGCTGACCTGCCT	0.582			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"clathrin, heavy polypeptide-like 1"		L	0													136	140	139					22																	19175595		2059	4191	6250	SO:0001819	synonymous_variant	0				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"clathrin, heavy polypeptide-like 1"	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4332G>A	22.37:g.19175595C>T			B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.Q1444	ENST00000263200.10	37	c.4332	CCDS46662.1	22																																																																																			CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000070371		0.582	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	-	0	57	0	C	NM_007098		19175595	-1	tier1	-	no_errors	ENST00000263200	ensembl	human	known	74_37	silent	5.83	97	6	SNP	1.000	T	T	19175595	C	T	19175595	2	4	24	1	0	0	0	0	0	0	0	1	3574	796	28	3		3	CLTCL1	22	19175595	Silent	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	875335	19175595	32128971	168	6333											
ATF4	468	genome.wustl.edu	37	chr22	39918415	39918415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaaaaatggagcaaaaCaagacagcagccactaggta	20	4	9	8	0	0	2	0	1	0	1	0	3	0	3	1	2	4	3	1	2	8	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chr22:39918415C>G	ENST00000337304.2	+	2	1746	c.864C>G	c.(862-864)aaC>aaG	p.N288K	ATF4_ENST00000404241.2_Missense_Mutation_p.N288K|ATF4_ENST00000396680.1_Missense_Mutation_p.N288K	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	288	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TGGAGCAAAACAAGACAGCAG	0.493																																																	0													18	21	20					22																	39918415		2199	4282	6481	SO:0001583	missense	0			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.864C>G	22.37:g.39918415C>G	ENSP00000336790:p.Asn288Lys		Q9UH31	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.N288K	ENST00000337304.2	37	c.864	CCDS13996.1	22	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269194	0.59540	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	D;D;D	0.93189	-3.18;-3.18;-3.18	5.38	2.94	0.34122	Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.90425	3.115	0.58432	D	0.999995	D	0.58970	0.984	P	0.59012	0.85	D	0.95458	0.8540	10	0.87932	D	0	-7.5453	8.6366	0.33953	0.0:0.7204:0.0:0.2796	.	288	P18848	ATF4_HUMAN	K	288	ENSP00000384587:N288K;ENSP00000336790:N288K;ENSP00000379912:N288K	ENSP00000336790:N288K	N	+	3	2	ATF4	38248361	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	0.418000	0.21230	1.267000	0.44247	0.462000	0.41574	AAC	ATF4	-	pfam_bZIP,smart_bZIP,pfscan_bZIP	ENSG00000128272		0.493	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	-	0	48	0	C	NM_001675		39918415	1	tier1	-	no_errors	ENST00000337304	ensembl	human	known	74_37	missense	17.78	35	8	SNP	1.000	G	G	39918415	C	G	39918415	3	3	24	1	0	0	0	0	1	0	0	0	1083	477	17	5	870	5	ATF4	22	39918415	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	20742820	39918415	11386151	169	6334											
ZXDB	158586	genome.wustl.edu	37	chrX	57619961	57619961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaaggctgtgggaaaTctttcacgagggcggaacat	10	9	15	7	2	2	0	1	0	1	0	2	4	2	3	0	5	1	1	0	5	3	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chrX:57619961T>C	ENST00000374888.1	+	1	1693	c.1480T>C	c.(1480-1482)Tct>Cct	p.S494P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	494	Required for interaction with ZXDC. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CTGTGGGAAATCTTTCACGAG	0.542																																																	0													74	69	71					X																	57619961		2203	4300	6503	SO:0001583	missense	0			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"Zinc fingers, C2H2-type"	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.1480T>C	X.37:g.57619961T>C	ENSP00000364023:p.Ser494Pro		A8K151|Q9UBB3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S494P	ENST00000374888.1	37	c.1480	CCDS35313.1	X	.	.	.	.	.	.	.	.	.	.	.	15.91	2.971533	0.53614	.	.	ENSG00000198455	ENST00000374888	T	0.55234	0.53	3.64	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66587	0.2804	M	0.69185	2.1	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.68992	-0.5263	10	0.72032	D	0.01	.	9.6879	0.40109	0.0:0.0:0.0:1.0	.	494	P98169	ZXDB_HUMAN	P	494	ENSP00000364023:S494P	ENSP00000364023:S494P	S	+	1	0	ZXDB	57636686	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.463000	0.66712	1.475000	0.48197	0.393000	0.25936	TCT	ZXDB	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198455		0.542	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDB	HGNC	protein_coding	OTTHUMT00000056922.1	-	0	23	0	T	NM_007157		57619961	1	tier1	-	no_errors	ENST00000374888	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	C	C	57619961	T	C	57619961	3	2	24	1	0	0	0	0	1	0	0	0	18299	1435	50	4	1482	4	ZXDB	23	57619961	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09		57619961	97650599	170	6335											
ASB12	142689	genome.wustl.edu	37	chrX	63444300	63444300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggccagcctggcacaagGctctgcggacgactaaacgg	9	5	14	13	3	1	0	0	0	1	0	1	2	1	1	2	5	3	3	2	5	3	1			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chrX:63444300G>T	ENST00000396130.2	-	2	844	c.845C>A	c.(844-846)gCc>gAc	p.A282D	MTMR8_ENST00000453546.1_Missense_Mutation_p.A666D|ASB12_ENST00000362002.2_Missense_Mutation_p.A291D			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	282	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						CTGGCACAAGGCTCTGCGGAC	0.502																																																	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											112	89	97					X																	63444300		2203	4300	6503	SO:0001583	missense	0			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.845C>A	X.37:g.63444300G>T	ENSP00000379435:p.Ala282Asp		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A666D	ENST00000396130.2	37	c.1997		X	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580962	0.28180	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.47177	0.85;0.85;0.85	3.73	3.73	0.42828	SOCS protein, C-terminal (2);	0.721690	0.14333	N	0.326224	T	0.38081	0.1027	L	0.50333	1.59	0.09310	N	1	B;B	0.22909	0.04;0.077	B;B	0.22152	0.038;0.026	T	0.31779	-0.9931	10	0.62326	D	0.03	-0.6315	3.9893	0.09530	0.1237:0.0:0.6381:0.2382	.	666;282	B4DQL0;Q8WXK4	.;ASB12_HUMAN	D	291;282;259;666	ENSP00000355195:A291D;ENSP00000379435:A282D;ENSP00000394003:A666D	ENSP00000354626:A259D	A	-	2	0	ASB12;MTMR8	63361025	0.986000	0.35501	0.837000	0.33122	0.267000	0.26476	3.116000	0.50399	2.118000	0.64928	0.529000	0.55759	GCC	MTMR8	-	pfam_SOCS_C,smart_SOCS_C	ENSG00000102043		0.502	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	MTMR8	HGNC	protein_coding		-	0	22	0	G			63444300	-1	tier1	-	no_errors	ENST00000453546	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.158	T	T	63444300	G	T	63444300	3	4	24	1	0	0	0	0	1	0	0	0	1017	1203	42	3	88	3	ASB12	23	63444300	Missense_Mutation	SNP	G	TCGA-IG-A50L-01A-11D-A27G-09	5824339	63444300	91826260	171	6336											
KIAA2022	340533	genome.wustl.edu	37	chrX	73963734	73963734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaatgtcaggtttctcagTttctcgtctgtctcctgccc	4	16	8	13	1	6	0	3	0	4	0	9	0	6	0	2	1	1	2	2	1	1	2			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chrX:73963734T>C	ENST00000055682.6	-	3	1269	c.658A>G	c.(658-660)Act>Gct	p.T220A		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	220					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGTTTCTCAGTTTCTCGTCTG	0.448																																																	0													135	122	126					X																	73963734		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.658A>G	X.37:g.73963734T>C	ENSP00000055682:p.Thr220Ala		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.T220A	ENST00000055682.6	37	c.658	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	T	0.339	-0.951758	0.02285	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.27890	1.64;1.64	5.97	1.93	0.25924	.	0.382752	0.30159	N	0.010271	T	0.11196	0.0273	N	0.12182	0.205	0.24919	N	0.991998	B	0.02656	0.0	B	0.01281	0.0	T	0.26744	-1.0094	10	0.06891	T	0.86	-1.1774	2.8651	0.05599	0.1307:0.5329:0.1198:0.2167	.	220	Q5QGS0	K2022_HUMAN	A	220	ENSP00000362567:T220A;ENSP00000055682:T220A	ENSP00000055682:T220A	T	-	1	0	KIAA2022	73880459	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.548000	0.36201	0.592000	0.29728	-0.287000	0.09952	ACT	KIAA2022	-	NULL	ENSG00000050030		0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	25	0	T	NM_001008537		73963734	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.999	C	C	73963734	T	C	73963734	3	2	24	1	0	0	0	0	1	0	0	0	8296	1725	60	4	3900	4	KIAA2022	23	73963734	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	10519434	73963734	81306826	172	6337											
MAP7D3	79649	genome.wustl.edu	37	chrX	135313964	135313964	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctcgcctccggggaTgctactatgctcaccttggg	5	10	12	14	2	1	0	1	0	0	0	4	1	3	1	4	4	3	3	4	4	2	3			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chrX:135313964T>C	ENST00000316077.9	-	8	1372	c.1152A>G	c.(1150-1152)gcA>gcG	p.A384A	MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370661.1_Silent_p.A349A|MAP7D3_ENST00000370663.5_Silent_p.A366A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	384					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCTCCGGGGATGCTACTATGC	0.592																																																	0													61	63	62					X																	135313964		2059	4195	6254	SO:0001819	synonymous_variant	0			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.1152A>G	X.37:g.135313964T>C			A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Silent	SNP	pfam_MAP7	p.A366	ENST00000316077.9	37	c.1098	CCDS44004.1	X																																																																																			MAP7D3	-	NULL	ENSG00000129680		0.592	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D3	HGNC	protein_coding	OTTHUMT00000058487.2	-	0	9	0	T			135313964	-1	tier1	-	no_errors	ENST00000370663	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.000	C	C	135313964	T	C	135313964	2	2	24	1	0	0	0	0	0	0	0	1	9307	1451	51	4		4	MAP7D3	23	135313964	Silent	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	61350230	135313964	19956596	173	6338											
L1CAM	3897	genome.wustl.edu	37	chrX	153130787	153130787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggtgaactcgctggCgggccccgatcctcgcccgt	5	7	14	15	5	0	2	0	2	0	0	3	3	1	2	4	3	1	2	4	3	2	0			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chrX:153130787C>T	ENST00000370060.1	-	21	2905	c.2716G>A	c.(2716-2718)Gcc>Acc	p.A906T	L1CAM_ENST00000538883.1_Missense_Mutation_p.A908T|L1CAM_ENST00000361699.4_Missense_Mutation_p.A906T|L1CAM_ENST00000543994.1_Missense_Mutation_p.A908T|L1CAM_ENST00000370057.3_Missense_Mutation_p.A906T|L1CAM_ENST00000361981.3_Missense_Mutation_p.A901T|L1CAM_ENST00000370055.1_Missense_Mutation_p.A901T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	906	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACTCGCTGGCGGGCCCCGAT	0.667													c|||	2	0.000529801	0	0	3775	,	,		10864	0.002		0	False		,,,				2504	0																0													58	56	56					X																	153130787		2203	4300	6503	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2716G>A	X.37:g.153130787C>T	ENSP00000359077:p.Ala906Thr		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A908T	ENST00000370060.1	37	c.2722	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	C	8.834	0.940594	0.18281	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.17	2.25	0.28309	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.695406	0.12802	N	0.437933	T	0.36110	0.0955	L	0.59436	1.845	0.23386	N	0.997781	P;P;P	0.45569	0.861;0.489;0.545	B;B;B	0.35899	0.213;0.085;0.129	T	0.14699	-1.0463	10	0.15499	T	0.54	.	9.1665	0.37054	0.128:0.5032:0.3687:0.0	.	901;906;906	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	T	906;908;906;908;901;901;906	ENSP00000359077:A906T;ENSP00000438430:A908T;ENSP00000359074:A906T;ENSP00000439645:A908T;ENSP00000354712:A901T;ENSP00000359072:A901T;ENSP00000355380:A906T	ENSP00000355380:A906T	A	-	1	0	L1CAM	152783981	0.665000	0.27466	0.206000	0.23566	0.018000	0.09664	1.947000	0.40293	0.947000	0.37659	0.529000	0.55759	GCC	L1CAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000198910		0.667	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0	12	0	C	NM_024003		153130787	-1	tier1	-	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.246	T	T	153130787	C	T	153130787	3	4	24	1	0	0	0	0	1	0	0	0	8616	768	27	1	1093	1	L1CAM	23	153130787	Missense_Mutation	SNP	C	TCGA-IG-A50L-01A-11D-A27G-09	17816823	153130787	2139773	174	6339											
F8	2157	genome.wustl.edu	37	chrX	154158117	154158117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggcttgtattaggagaTatccttgtggtgcatgcata	8	15	12	6	0	0	1	0	0	0	1	1	2	1	1	1	3	3	5	1	3	4	6			TCGA-IG-A50L-01A-11D-A27G-09	TCGA-IG-A50L-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9ab2fe81-6c92-4a51-833c-02eaf3bd333d	d1df52b2-f7fe-40bb-ae0e-d964d9272175	g.chrX:154158117T>C	ENST00000360256.4	-	14	4148	c.3948A>G	c.(3946-3948)atA>atG	p.I1316M		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1316	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TATTAGGAGATATCCTTGTGG	0.393																																																	0													197	168	178					X																	154158117		2203	4300	6503	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3948A>G	X.37:g.154158117T>C	ENSP00000353393:p.Ile1316Met		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.I1316M	ENST00000360256.4	37	c.3948	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	t	0	-2.756680	0.00085	.	.	ENSG00000185010	ENST00000360256	D	0.99121	-5.45	4.08	0.153	0.14897	.	0.601453	0.15504	N	0.258900	D	0.92341	0.7570	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	D	0.88558	0.3121	10	0.31617	T	0.26	-0.5201	3.2855	0.06930	0.0:0.399:0.2078:0.3933	.	1316	P00451	FA8_HUMAN	M	1316	ENSP00000353393:I1316M	ENSP00000353393:I1316M	I	-	3	3	F8	153811311	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.948000	0.03897	0.016000	0.14998	-0.291000	0.09656	ATA	F8	-	NULL	ENSG00000185010		0.393	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4		0	31	0	T			154158117	-1			no_errors	ENST00000360256	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.000	C	C	154158117	T	C	154158117	3	2	24	1	0	0	0	0	1	0	0	0	5366	1396	49	4	3187	4	F8	23	154158117	Missense_Mutation	SNP	T	TCGA-IG-A50L-01A-11D-A27G-09	1027330	154158117	1112443	175	6340											
LRRC47	57470	genome.wustl.edu	37	chr1	3699225	3699226	+	Splice_Site	INS	-	-	T																															cacacacatgccaccctaccINStttgtcttctcactgttggt																										TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:3699225_3699226insT	ENST00000378251.1	-	5	1439_1440	c.1412_1413insA	c.(1411-1413)aag>aaAg	p.K471fs	RP1-286D6.5_ENST00000607459.1_RNA|RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	471							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GCCACCCTACCTTTGTCTTCTC	0.485																																																	0																																										SO:0001630	splice_region_variant	0			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1413+1->A	1.37:g.3699228_3699228dupT			Q9ULN5	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd	p.V472fs	ENST00000378251.1	37	c.1413_1412	CCDS51.1	1																																																																																			LRRC47	-	pfam_B3/B4_tRNA-bd,smart_B3/B4_tRNA-bd	ENSG00000130764		0.485	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	HGNC	protein_coding	OTTHUMT00000009744.1		0	67	0	-	NM_020710	Frame_Shift_Ins	3699226	-1	tier1		no_errors	ENST00000378251	ensembl	human	known	74_37	frame_shift_ins	18.07	68	15	INS	1.000:1.000	T	T	3699226	-	T	3699225	8	5	25	1	0	1	1	0	0	0	1	0	9039	695	24	0	350	0	LRRC47	1	3699225	Splice_Site	INS	-	TCGA-IG-A51D-01A-11D-A27G-09		3699225	245551396	1	6341											
KIAA0562	9731	genome.wustl.edu	37	chr1	3755527	3755527	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctgggctcctgcacccaCcagctcggcatccaggaggc	6	6	12	17	2	1	0	0	0	1	0	4	1	3	1	4	4	2	4	4	4	0	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:3755527C>A	ENST00000378230.3	-	8	1216		c.e8+1		CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa							centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCTGCACCCACCAGCTCGGCA	0.542																																																	0													123	118	120					1																	3755527		2203	4300	6503	SO:0001630	splice_region_variant	0			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.891+1G>T	1.37:g.3755527C>A			Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Splice_Site	SNP	-	e7+1	ENST00000378230.3	37	c.891+1	CCDS30571.1	1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641561	0.29157	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8233	0.88656	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP104	3745387	1.000000	0.71417	0.946000	0.38457	0.644000	0.38419	3.126000	0.50477	2.450000	0.82876	0.655000	0.94253	.	CEP104	-	-	ENSG00000116198		0.542	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	-	0	66	0	C	NM_014704	Intron	3755527	-1	tier1	-	no_errors	ENST00000378230	ensembl	human	known	74_37	splice_site	22.78	61	18	SNP	1.000	A	A	3755527	C	A	3755527	5	1	25	1	0	0	0	0	0	0	1	0	8211	521	18	3	1945	3	KIAA0562	1	3755527	Splice_Site	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	56302	3755527	245495094	2	6342											
ATP13A2	23400	genome.wustl.edu	37	chr1	17322751	17322751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacccccaaggcttacccGgtttcggtagaggatgaaga	10	7	11	13	2	0	3	0	1	0	2	1	4	0	4	4	4	1	3	4	4	4	3	rs139065780		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:17322751G>A	ENST00000326735.8	-	14	1384	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W	ATP13A2_ENST00000452699.1_Missense_Mutation_p.R446W|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R446W			Q9NQ11	AT132_HUMAN	ATPase type 13A2	451					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGCTTACCCGGTTTCGGTAG	0.647																																																	0								G	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	53	60	58		1336,1336,1351	2	0.8	1	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	101,101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	446/1176,446/1159,451/1181	17322751	2,13004	2203	4300	6503	SO:0001583	missense	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1351C>T	1.37:g.17322751G>A	ENSP00000327214:p.Arg451Trp		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.R451W	ENST00000326735.8	37	c.1351	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517996	0.44763	2.27E-4	1.16E-4	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552;ENST00000506174	D;D;D;D;D	0.90676	-2.45;-2.45;-2.45;-2.45;-2.71	4.3	2.04	0.26737	ATPase, P-type, ATPase-associated domain (1);	0.705374	0.14437	N	0.319648	D	0.91216	0.7232	L	0.38175	1.15	0.34308	D	0.68507	D;D;D;D;D	0.71674	0.996;0.991;0.998;0.996;0.977	P;P;D;P;P	0.63793	0.713;0.849;0.918;0.806;0.773	D	0.91986	0.5599	10	0.87932	D	0	-10.4344	11.4188	0.49969	0.0:0.0:0.675:0.325	.	127;164;446;446;451	Q52PK6;Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;.;AT132_HUMAN	W	451;446;446;10;165	ENSP00000327214:R451W;ENSP00000341115:R446W;ENSP00000413307:R446W;ENSP00000421126:R10W;ENSP00000424393:R165W	ENSP00000327214:R451W	R	-	1	2	ATP13A2	17195338	0.833000	0.29383	0.808000	0.32385	0.437000	0.31866	1.413000	0.34725	0.765000	0.33221	0.491000	0.48974	CGG	ATP13A2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000159363		0.647	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	-	0	58	0	G	NM_022089		17322751	-1	tier1	rs139065780	no_errors	ENST00000326735	ensembl	human	known	74_37	missense	25.40	47	16	SNP	0.977	A	A	17322751	G	A	17322751	3	1	25	1	0	0	0	0	1	0	0	0	1125	1115	39	1	2491	1	ATP13A2	1	17322751	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	13567224	17322751	231927870	3	6343											
MARCKSL1	65108	genome.wustl.edu	37	chr1	32800284	32800284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtagcctggggccctgcctCttcttctgaggctgcactag	4	12	12	13	0	3	1	0	1	3	0	3	1	3	1	3	3	3	3	3	3	2	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:32800284C>G	ENST00000329421.7	-	2	847	c.502G>C	c.(502-504)Gag>Cag	p.E168Q		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	168					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCCCTGCCTCTTCTTCTGAG	0.662																																																	0													46	45	45					1																	32800284		2203	4300	6503	SO:0001583	missense	0			AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"MARCKS-like protein"	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.502G>C	1.37:g.32800284C>G	ENSP00000362638:p.Glu168Gln		D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	pfam_MARCKS,prints_MARCKS	p.E168Q	ENST00000329421.7	37	c.502	CCDS361.1	1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682660	0.68157	.	.	ENSG00000175130	ENST00000329421	T	0.46451	0.87	5.22	5.22	0.72569	.	0.284375	0.35320	N	0.003291	T	0.52468	0.1736	N	0.22421	0.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	T	0.55970	-0.8056	10	0.59425	D	0.04	-15.2273	18.8257	0.92117	0.0:1.0:0.0:0.0	.	168	P49006	MRP_HUMAN	Q	168	ENSP00000362638:E168Q	ENSP00000362638:E168Q	E	-	1	0	MARCKSL1	32572871	0.395000	0.25254	0.990000	0.47175	0.989000	0.77384	1.047000	0.30367	2.645000	0.89757	0.556000	0.70494	GAG	MARCKSL1	-	pfam_MARCKS	ENSG00000175130		0.662	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCKSL1	HGNC	protein_coding	OTTHUMT00000020059.3	-	0	138	0	C	NM_023009		32800284	-1	tier1	-	no_errors	ENST00000329421	ensembl	human	known	74_37	missense	6.71	139	10	SNP	1.000	G	G	32800284	C	G	32800284	3	3	25	1	0	0	0	0	1	0	0	0	9348	922	32	5	89	5	MARCKSL1	1	32800284	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	15477533	32800284	216450337	4	6344											
RNF19B	127544	genome.wustl.edu	37	chr1	33412087	33412087	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccccactggagcaccAatcaacgtgcccagctgcca	12	5	8	16	1	1	0	1	0	0	0	2	2	2	1	5	1	5	2	5	1	3	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:33412087A>C	ENST00000373456.7	-	4	1064	c.1065T>G	c.(1063-1065)atT>atG	p.I355M	RNF19B_ENST00000235150.4_Missense_Mutation_p.I354M|RNF19B_ENST00000356990.5_Missense_Mutation_p.I354M	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	355					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGGAGCACCAATCAACGTGC	0.502																																																	0													92	73	79					1																	33412087		2203	4300	6503	SO:0001583	missense	0			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1065T>G	1.37:g.33412087A>C	ENSP00000362555:p.Ile355Met		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.I355M	ENST00000373456.7	37	c.1065	CCDS372.2	1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318257	0.60524	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	T;T;T	0.35789	1.29;1.34;1.3	5.5	0.186	0.15105	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	L	0.52573	1.65	0.49051	D	0.999747	D;D;D	0.69078	0.997;0.997;0.97	D;D;P	0.66847	0.947;0.916;0.809	T	0.31420	-0.9944	10	0.72032	D	0.01	.	4.7016	0.12830	0.5981:0.0:0.1877:0.2142	.	354;355;354	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	M	355;354;354;253	ENSP00000362555:I355M;ENSP00000349482:I354M;ENSP00000235150:I354M	ENSP00000235150:I354M	I	-	3	3	RNF19B	33184674	0.863000	0.29885	0.997000	0.53966	0.987000	0.75469	0.072000	0.14617	-0.144000	0.11314	-0.376000	0.06991	ATT	RNF19B	-	NULL	ENSG00000116514		0.502	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF19B	HGNC	protein_coding	OTTHUMT00000011465.3	-	0	30	0	A	NM_153341		33412087	-1	tier1	-	no_errors	ENST00000373456	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.999	C	C	33412087	A	C	33412087	3	2	25	1	0	0	0	0	1	0	0	0	13516	126	5	4	1183	4	RNF19B	1	33412087	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	611803	33412087	215838534	5	6345											
ZMYM1	79830	genome.wustl.edu	37	chr1	35570262	35570262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatcatgaactgctgtgaGaactgtggcacttactgtta	10	14	9	8	0	2	2	2	2	0	1	2	3	2	2	0	1	4	3	0	1	4	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:35570262G>A	ENST00000373330.1	+	7	873	c.699G>A	c.(697-699)gaG>gaA	p.E233E	ZMYM1_ENST00000359858.4_Silent_p.E233E|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	233						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTGCTGTGAGAACTGTGGCA	0.378																																																	0													91	87	89					1																	35570262		2071	4245	6316	SO:0001819	synonymous_variant	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.699G>A	1.37:g.35570262G>A			D3DPR7|Q7Z3Q4	Silent	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.E233	ENST00000373330.1	37	c.699	CCDS41302.1	1																																																																																			ZMYM1	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000197056		0.378	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	-	0	36	0	G	NM_024772		35570262	1	tier1	-	no_errors	ENST00000359858	ensembl	human	novel	74_37	silent	19.23	41	10	SNP	1.000	A	A	35570262	G	A	35570262	2	1	25	1	0	0	0	0	0	0	0	1	17747	933	33	3		3	ZMYM1	1	35570262	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	2158175	35570262	213680359	6	6346											
GUCA2B	2981	genome.wustl.edu	37	chr1	42620500	42620500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaccttcagcctgtctgCgcctcgcaggaggcttccag	6	8	12	15	2	2	0	1	0	1	0	4	2	3	2	4	3	2	2	4	3	0	2	rs144117245		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:42620500C>T	ENST00000372581.1	+	2	270	c.240C>T	c.(238-240)tgC>tgT	p.C80C		NM_007102.2	NP_009033.1	Q16661	GUC2B_HUMAN	guanylate cyclase activator 2B (uroguanylin)	80					body fluid secretion (GO:0007589)|cGMP biosynthetic process (GO:0006182)|excretion (GO:0007588)|negative regulation of blood pressure (GO:0045776)|positive regulation of guanylate cyclase activity (GO:0031284)	extracellular vesicular exosome (GO:0070062)	calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCTGTCTGCGCCTCGCAGG	0.682													C|||	1	0.000199681	0	0	5008	,	,		19178	0.001		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	53	52	52		240	-2.2	0	1	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GUCA2B	NM_007102.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		80/113	42620500	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			BC069301	CCDS464.1	1p34-p33	2014-01-30			ENSG00000044012	ENSG00000044012		"Endogenous ligands"	4683	protein-coding gene	gene with protein product	"prepro-uroguanylin"	601271				8605041, 9268639	Standard	NM_007102		Approved		uc001chc.1	Q16661	OTTHUMG00000007024	ENST00000372581.1:c.240C>T	1.37:g.42620500C>T			Q52LV0	Silent	SNP	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin	p.C80	ENST00000372581.1	37	c.240	CCDS464.1	1																																																																																			GUCA2B	-	pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin	ENSG00000044012		0.682	GUCA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA2B	HGNC	protein_coding	OTTHUMT00000018307.1	-	0	11	0	C	NM_007102		42620500	1	tier1	rs144117245	no_errors	ENST00000372581	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.011	T	T	42620500	C	T	42620500	2	4	25	1	0	0	0	0	0	0	0	1	6919	776	27	1		1	GUCA2B	1	42620500	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	7050238	42620500	206630121	7	6347											
LEPRE1	64175	genome.wustl.edu	37	chr1	43228119	43228119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgaagaaggtgtgtgctgCagcaacagctttctccaact	11	9	10	11	1	1	1	0	0	1	1	2	2	1	1	1	1	6	4	1	1	4	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:43228119C>T	ENST00000296388.5	-	2	544	c.493G>A	c.(493-495)Gca>Aca	p.A165T	LEPRE1_ENST00000236040.4_Missense_Mutation_p.A165T|LEPRE1_ENST00000397054.3_Missense_Mutation_p.A165T			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	165					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTGTGTGCTGCAGCAACAGCT	0.468																																																	0													133	128	130					1																	43228119		2203	4300	6503	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.493G>A	1.37:g.43228119C>T	ENSP00000296388:p.Ala165Thr		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.A165T	ENST00000296388.5	37	c.493	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793285	0.90453	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.63255	-0.03;-0.03;-0.03	5.73	5.73	0.89815	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.997;0.997	T	0.82474	-0.0439	10	0.56958	D	0.05	-16.6954	17.3865	0.87417	0.0:1.0:0.0:0.0	.	165;165;30;165	Q32P28-2;Q32P28-3;B4DNM8;Q32P28	.;.;.;P3H1_HUMAN	T	165;165;165;30	ENSP00000380245:A165T;ENSP00000236040:A165T;ENSP00000296388:A165T	ENSP00000236040:A165T	A	-	1	0	LEPRE1	43000706	1.000000	0.71417	0.886000	0.34754	0.441000	0.31987	5.527000	0.67123	2.709000	0.92574	0.563000	0.77884	GCA	LEPRE1	-	NULL	ENSG00000117385		0.468	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	-	0	34	0	C	NM_022356		43228119	-1	tier1	-	no_errors	ENST00000236040	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	T	T	43228119	C	T	43228119	3	4	25	1	0	0	0	0	1	0	0	0	8757	710	25	3	1792	3	LEPRE1	1	43228119	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	607619	43228119	206022502	8	6348											
RAD54L	8438	genome.wustl.edu	37	chr1	46733163	46733163	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaactctgagaatcagacTtaccaagccctggacagctt	14	8	8	11	0	2	3	1	1	1	3	2	5	2	4	2	1	4	1	2	1	5	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:46733163T>A	ENST00000371975.4	+	9	1598	c.924T>A	c.(922-924)acT>acA	p.T308T	RAD54L_ENST00000442598.1_Silent_p.T308T|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	308	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGAATCAGACTTACCAAGCCC	0.493								Direct reversal of damage;Homologous recombination																																									0													96	91	93					1																	46733163		2203	4300	6503	SO:0001819	synonymous_variant	0			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"RAD54 (S.cerevisiae)-like"			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.924T>A	1.37:g.46733163T>A			Q5TE31|Q6IUY3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T308	ENST00000371975.4	37	c.924	CCDS532.1	1																																																																																			RAD54L	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000085999		0.493	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L	HGNC	protein_coding	OTTHUMT00000021272.1	-	0	30	0	T	NM_003579		46733163	1	tier1	-	no_errors	ENST00000371975	ensembl	human	known	74_37	silent	29.63	19	8	SNP	0.843	A	A	46733163	T	A	46733163	2	1	25	1	0	0	0	0	0	0	0	1	13038	1596	56	5		5	RAD54L	1	46733163	Silent	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	3505044	46733163	202517458	9	6349											
IL23R	149233	genome.wustl.edu	37	chr1	67724329	67724329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccgcaaaactcgctattcGacaatactacagttgtatat	14	11	5	11	3	0	0	0	0	0	0	2	1	0	0	1	0	3	4	1	0	8	7	rs375054504		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:67724329G>A	ENST00000347310.5	+	11	1579	c.1408G>A	c.(1408-1410)Gac>Aac	p.D470N	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.D215N	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	470					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CTCGCTATTCGACAATACTAC	0.403																																																	0								G	ASN/ASP	0,4406		0,0,2203	94	96	95		1408	-2.3	0	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	IL23R	NM_144701.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	470/630	67724329	1,13005	2203	4300	6503	SO:0001583	missense	0			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1408G>A	1.37:g.67724329G>A	ENSP00000321345:p.Asp470Asn		C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D470N	ENST00000347310.5	37	c.1408	CCDS637.1	1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990228	0.35131	0.0	1.16E-4	ENSG00000162594	ENST00000347310;ENST00000395227	T;T	0.32023	1.47;1.56	5.71	-2.35	0.06684	.	1.035130	0.07574	N	0.919031	T	0.07098	0.0180	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.33904	0.29;0.431;0.431;0.431;0.335	B;B;B;B;B	0.24541	0.037;0.054;0.037;0.054;0.039	T	0.21314	-1.0249	10	0.44086	T	0.13	-25.4573	12.5328	0.56126	0.2184:0.0:0.7816:0.0	.	216;105;68;215;470	Q5VWK5-2;Q5VWK5-5;Q5VWK5-7;Q5VWK5-6;Q5VWK5	.;.;.;.;IL23R_HUMAN	N	470;215	ENSP00000321345:D470N;ENSP00000378652:D215N	ENSP00000321345:D470N	D	+	1	0	IL23R	67496917	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.073000	0.11468	-0.361000	0.08125	0.650000	0.86243	GAC	IL23R	-	NULL	ENSG00000162594		0.403	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	HGNC	protein_coding	OTTHUMT00000025199.2	-	0	34	0	G	NM_144701		67724329	1	tier1	-	no_errors	ENST00000347310	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.000	A	A	67724329	G	A	67724329	3	1	25	1	0	0	0	0	1	0	0	0	7703	1058	37	1	1446	1	IL23R	1	67724329	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	20991166	67724329	181526292	10	6350											
AGL	178	genome.wustl.edu	37	chr1	100316652	100316652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgaaatggagaaactGgaaaagaccctcttcagact	16	7	9	9	1	2	4	1	1	1	3	2	7	2	5	1	2	2	0	1	2	5	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:100316652G>A	ENST00000294724.4	+	2	532	c.54G>A	c.(52-54)ctG>ctA	p.L18L	AGL_ENST00000370163.3_Silent_p.L18L|AGL_ENST00000361302.3_5'UTR|AGL_ENST00000370161.2_5'Flank|AGL_ENST00000361915.3_Silent_p.L18L|AGL_ENST00000370165.3_Silent_p.L18L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	18					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGAGAAACTGGAAAAGACCC	0.343																																																	0													130	142	138					1																	100316652		2203	4300	6503	SO:0001819	synonymous_variant	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.54G>A	1.37:g.100316652G>A			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.L18	ENST00000294724.4	37	c.54	CCDS759.1	1																																																																																			AGL	-	NULL	ENSG00000162688		0.343	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	-	0	44	0	G	NM_000028		100316652	1	tier1	-	no_errors	ENST00000294724	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.995	A	A	100316652	G	A	100316652	2	1	25	1	0	0	0	0	0	0	0	1	384	1335	47	3		3	AGL	1	100316652	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	32592323	100316652	148933969	11	6351											
VPS45	11311	genome.wustl.edu	37	chr1	150048327	150048327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatttcagtaatgtgatCagcaagagtgacgtgaagtc	13	11	11	6	1	3	5	3	3	0	2	4	5	3	5	0	0	1	2	0	0	3	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:150048327C>T	ENST00000369130.3	+	4	852	c.306C>T	c.(304-306)atC>atT	p.I102I	VPS45_ENST00000535106.1_Silent_p.I102I|VPS45_ENST00000369128.5_Silent_p.I66I	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	102					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTAATGTGATCAGCAAGAGTG	0.408																																																	0													177	155	162					1																	150048327		2203	4300	6503	SO:0001819	synonymous_variant	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.306C>T	1.37:g.150048327C>T			D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.I102	ENST00000369130.3	37	c.306	CCDS944.1	1																																																																																			VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.408	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	-	0	28	0	C	NM_007259		150048327	1	tier1	-	no_errors	ENST00000369130	ensembl	human	known	74_37	silent	14.61	76	13	SNP	1.000	T	T	150048327	C	T	150048327	2	4	25	1	0	0	0	0	0	0	0	1	17260	816	29	3		3	VPS45	1	150048327	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	49731675	150048327	99202294	12	6352											
FLG	2312	genome.wustl.edu	37	chr1	152278186	152278186	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtagaggaaagatcctGaatgtccagacgtttcccct	10	10	10	11	1	0	4	0	1	0	3	3	5	3	5	5	2	0	2	5	2	3	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:152278186G>T	ENST00000368799.1	-	3	9211	c.9176C>A	c.(9175-9177)tCa>tAa	p.S3059*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3059	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAAGATCCTGAATGTCCAGA	0.587									Ichthyosis																																								0													14	18	17					1																	152278186		1787	4035	5822	SO:0001587	stop_gained	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9176C>A	1.37:g.152278186G>T	ENSP00000357789:p.Ser3059*		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S3059*	ENST00000368799.1	37	c.9176	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	47	13.881264	0.99768	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.8	0.496	0.16896	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	3.5718	0.07920	0.1611:0.2644:0.5746:0.0	.	.	.	.	X	3059	.	ENSP00000357789:S3059X	S	-	2	0	FLG	150544810	0.008000	0.16893	0.001000	0.08648	0.002000	0.02628	0.711000	0.25764	0.471000	0.27319	0.449000	0.29647	TCA	FLG	-	NULL	ENSG00000143631		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	45	0	G	NM_002016		152278186	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	nonsense	11.94	59	8	SNP	0.001	T	T	152278186	G	T	152278186	4	4	25	1	0	0	0	0	0	1	0	0	5944	1294	45	3	3013	3	FLG	1	152278186	Nonsense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	2229859	152278186	96972435	13	6353											
PAPPA2	60676	genome.wustl.edu	37	chr1	176526316	176526316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagattccccgggaggcGttcacagtggaagcctgggt	7	8	16	10	2	1	1	1	1	0	1	2	4	2	3	3	4	1	2	3	4	1	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:176526316G>A	ENST00000367662.3	+	2	2022	c.858G>A	c.(856-858)gcG>gcA	p.A286A	PAPPA2_ENST00000367661.3_Silent_p.A286A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	286					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCGGGAGGCGTTCACAGTGG	0.572																																																	0													20	21	21					1																	176526316		1953	4155	6108	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.858G>A	1.37:g.176526316G>A			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.A286	ENST00000367662.3	37	c.858	CCDS41438.1	1																																																																																			PAPPA2	-	superfamily_ConA-like_lec_gl_sf,smart_LamG-like	ENSG00000116183		0.572	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	52	0	G			176526316	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	9.41	77	8	SNP	1.000	A	A	176526316	G	A	176526316	2	1	25	1	0	0	0	0	0	0	0	1	11472	1132	40	1		1	PAPPA2	1	176526316	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	24248130	176526316	72724305	14	6354											
STX6	10228	genome.wustl.edu	37	chr1	180953825	180953825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacataccactggtcatatGagatacttttgcaagtttct	12	15	6	8	0	2	1	1	1	1	1	2	2	2	1	1	1	4	2	1	1	5	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:180953825G>A	ENST00000258301.5	-	7	916	c.679C>T	c.(679-681)Cat>Tat	p.H227Y	STX6_ENST00000469135.1_5'UTR|STX6_ENST00000542060.1_Missense_Mutation_p.H126Y	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	227					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						CTGGTCATATGAGATACTTTT	0.423																																																	0													102	97	98					1																	180953825		2203	4300	6503	SO:0001583	missense	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.679C>T	1.37:g.180953825G>A	ENSP00000258301:p.His227Tyr		B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.H227Y	ENST00000258301.5	37	c.679	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524973	0.85600	.	.	ENSG00000135823	ENST00000258301;ENST00000542060	.	.	.	5.7	5.7	0.88788	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.83012	2.62	0.54753	D	0.999988	D;P	0.76494	0.999;0.726	D;B	0.83275	0.996;0.414	D	0.84866	0.0822	8	0.56958	D	0.05	-20.7196	19.4362	0.94796	0.0:0.0:1.0:0.0	.	126;227	B4DR17;O43752	.;STX6_HUMAN	Y	227;126	.	ENSP00000258301:H227Y	H	-	1	0	STX6	179220448	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.258000	0.95555	2.683000	0.91414	0.655000	0.94253	CAT	STX6	-	pfam_T_SNARE_dom	ENSG00000135823		0.423	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1		0	30	0	G	NM_005819		180953825	-1			no_errors	ENST00000258301	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	A	A	180953825	G	A	180953825	3	1	25	1	0	0	0	0	1	0	0	0	15396	1290	45	3	96	3	STX6	1	180953825	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	4427509	180953825	68296796	15	6355											
CFHR3	10878	genome.wustl.edu	37	chr1	196762609	196762609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatttcaagcagtgtgtcGggaagggatagtggaatacc	12	10	13	6	1	2	0	2	0	0	0	3	3	2	3	1	3	2	1	1	3	5	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:196762609G>A	ENST00000367425.4	+	6	1051	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	CFHR3_ENST00000391985.3_Missense_Mutation_p.R259Q	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	320	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GCAGTGTGTCGGGAAGGGATA	0.378																																																	0													118	140	133					1																	196762609		1917	4133	6050	SO:0001583	missense	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.959G>A	1.37:g.196762609G>A	ENSP00000356395:p.Arg320Gln		B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R320Q	ENST00000367425.4	37	c.959	CCDS30958.1	1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303416	0.23736	.	.	ENSG00000116785	ENST00000367425;ENST00000391985	D;D	0.82803	-1.65;-1.65	3.24	-6.48	0.01896	Complement control module (1);	.	.	.	.	T	0.49012	0.1532	N	0.01086	-1.025	0.09310	N	1	B;B	0.12630	0.001;0.006	B;B	0.04013	0.0;0.001	T	0.42189	-0.9466	9	0.30854	T	0.27	.	3.4284	0.07420	0.3642:0.0:0.3002:0.3356	.	259;320	B4DPR0;Q02985	.;FHR3_HUMAN	Q	320;259	ENSP00000356395:R320Q;ENSP00000375845:R259Q	ENSP00000356395:R320Q	R	+	2	0	CFHR3	195029232	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-1.997000	0.01470	-1.318000	0.02289	0.392000	0.25879	CGG	CFHR3	-	superfamily_Sushi_SCR_CCP	ENSG00000116785		0.378	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	-	0	63	0	G	NM_021023		196762609	1	tier1	-	no_errors	ENST00000367425	ensembl	human	known	74_37	missense	11.88	89	12	SNP	0.000	A	A	196762609	G	A	196762609	3	1	25	1	0	0	0	0	1	0	0	0	3293	1116	39	1	981	1	CFHR3	1	196762609	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	15808784	196762609	52488012	16	6356											
TAF5L	27097	genome.wustl.edu	37	chr1	229745865	229745865	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttaccagtgagaaaatTccgcagtcgtccaaactgta	13	10	8	10	2	0	1	0	1	0	1	3	2	2	1	3	0	3	3	3	0	6	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:229745865T>C	ENST00000366676.1	-	2	234	c.235A>G	c.(235-237)Aat>Gat	p.N79D	TAF5L_ENST00000366675.3_Missense_Mutation_p.N79D|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Missense_Mutation_p.N79D			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	79					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGAGAAAATTCCGCAGTCGT	0.453																																																	0													83	77	79					1																	229745865		2203	4300	6503	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.235A>G	1.37:g.229745865T>C	ENSP00000355636:p.Asn79Asp		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N79D	ENST00000366676.1	37	c.235	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379934	0.24944	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58652	0.32;0.32;0.94	4.88	4.88	0.63580	TFIID subunit, WD40-associated region (1);	0.319891	0.37857	N	0.001920	T	0.38506	0.1043	N	0.12182	0.205	0.27890	N	0.939382	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13495	-1.0507	9	.	.	.	-12.4494	14.7815	0.69772	0.0:0.0:0.0:1.0	.	79;79	O75529-2;O75529	.;TAF5L_HUMAN	D	79	ENSP00000355636:N79D;ENSP00000258281:N79D;ENSP00000355635:N79D	.	N	-	1	0	TAF5L	227812488	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	3.331000	0.52075	1.960000	0.56953	0.448000	0.29417	AAT	TAF5L	-	pfam_TFIID-su_WD40-assoc_reg	ENSG00000135801		0.453	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0	18	0	T	NM_014409		229745865	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	C	C	229745865	T	C	229745865	3	2	25	1	0	0	0	0	1	0	0	0	15576	1783	62	4	1552	4	TAF5L	1	229745865	Missense_Mutation	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	32983256	229745865	19504756	17	6357											
PGBD5	79605	genome.wustl.edu	37	chr1	230468761	230468761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagtcactcttccgcgCgcggagcaagccgcagcagt	7	6	14	14	5	2	0	1	0	1	0	3	1	3	1	2	2	4	4	2	2	1	1	rs371374137		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:230468761C>T	ENST00000525115.1	-	5	918	c.895G>A	c.(895-897)Gcg>Acg	p.A299T	PGBD5_ENST00000321327.2_Missense_Mutation_p.A398T|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.A253T			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	299						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		CTCTTCCGCGCGCGGAGCAAG	0.652																																																	0									THR/ALA	0,4404		0,0,2202	45	44	45		895	-5.3	0.8	1		45	1,8595		0,1,4297	no	missense	PGBD5	NM_024554.3	58	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	299/456	230468761	1,12999	2202	4298	6500	SO:0001583	missense	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.895G>A	1.37:g.230468761C>T	ENSP00000431404:p.Ala299Thr		A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.A398T	ENST00000525115.1	37	c.1192		1	.	.	.	.	.	.	.	.	.	.	-	10.34	1.323653	0.24080	0.0	1.16E-4	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.17370	2.28;2.28;2.28	5.5	-5.32	0.02722	.	0.384691	0.32357	N	0.006213	T	0.03871	0.0109	N	0.03608	-0.345	0.21841	N	0.999519	B	0.06786	0.001	B	0.04013	0.001	T	0.28073	-1.0055	10	0.13108	T	0.6	-8.0227	2.2615	0.04068	0.2885:0.293:0.2939:0.1246	.	299	Q8N414	PGBD5_HUMAN	T	253;398;299	ENSP00000375733:A253T;ENSP00000322530:A398T;ENSP00000431404:A299T	ENSP00000322530:A398T	A	-	1	0	PGBD5	228535384	0.225000	0.23685	0.807000	0.32361	0.776000	0.43924	-0.333000	0.07894	-1.466000	0.01897	-0.930000	0.02707	GCG	PGBD5	-	NULL	ENSG00000177614		0.652	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	-	0	71	0	C	NM_024554		230468761	-1	tier1	-	no_errors	ENST00000321327	ensembl	human	known	74_37	missense	17.27	91	19	SNP	0.644	T	T	230468761	C	T	230468761	3	4	25	1	0	0	0	0	1	0	0	0	11823	768	27	1	484	1	PGBD5	1	230468761	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	722896	230468761	18781860	18	6358											
RYR2	6262	genome.wustl.edu	37	chr1	237794736	237794736	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctttctagggatattatGaataacaaagtgttttacca	13	15	7	6	0	1	1	0	1	1	0	2	2	2	2	2	1	2	1	2	1	7	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:237794736G>C	ENST00000366574.2	+	42	6767	c.6450G>C	c.(6448-6450)atG>atC	p.M2150I	RYR2_ENST00000542537.1_Missense_Mutation_p.M2134I|RYR2_ENST00000360064.6_Missense_Mutation_p.M2148I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2150	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATATTATGAATAACAAAG	0.413																																																	0													85	85	85					1																	237794736		1956	4174	6130	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6450G>C	1.37:g.237794736G>C	ENSP00000355533:p.Met2150Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.M2148I	ENST00000366574.2	37	c.6444	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510429	0.64522	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95447	-3.71;-3.71;-3.71	5.43	5.43	0.79202	Intracellular calcium-release channel (1);	0.066142	0.56097	D	0.000028	D	0.96516	0.8863	L	0.45137	1.4	0.80722	D	1	D	0.67145	0.996	D	0.65874	0.939	D	0.96570	0.9422	10	0.56958	D	0.05	-19.5085	19.6027	0.95569	0.0:0.0:1.0:0.0	.	2150	Q92736	RYR2_HUMAN	I	2150;2148;2134	ENSP00000355533:M2150I;ENSP00000353174:M2148I;ENSP00000443798:M2134I	ENSP00000353174:M2148I	M	+	3	0	RYR2	235861359	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	9.813000	0.99286	2.703000	0.92315	0.650000	0.86243	ATG	RYR2	-	pfam_Ca-rel_channel	ENSG00000198626		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	50	0	G	NM_001035		237794736	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	7.69	96	8	SNP	1.000	C	C	237794736	G	C	237794736	3	2	25	1	0	0	0	0	1	0	0	0	13814	1290	45	5	6616	5	RYR2	1	237794736	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	7325975	237794736	11455885	19	6359											
RYR2	6262	genome.wustl.edu	37	chr1	237982455	237982455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttgacatcactttcttCttctttgttattgtcattct	6	23	3	9	0	7	1	2	1	5	0	7	1	7	1	0	0	0	1	0	0	1	8			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:237982455C>A	ENST00000366574.2	+	101	14870	c.14553C>A	c.(14551-14553)ttC>ttA	p.F4851L	RYR2_ENST00000542537.1_Missense_Mutation_p.F4835L|RYR2_ENST00000360064.6_Missense_Mutation_p.F4857L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4851					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCACTTTCTTCTTCTTTGTTA	0.418																																																	0													236	237	236					1																	237982455		1946	4129	6075	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14553C>A	1.37:g.237982455C>A	ENSP00000355533:p.Phe4851Leu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.F4857L	ENST00000366574.2	37	c.14571	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.053211	0.93793	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98419	-4.92;-4.92;-4.92	5.58	4.68	0.58851	Ion transport (1);	0.000000	0.64402	U	0.000005	D	0.99023	0.9666	M	0.90705	3.14	0.58432	D	0.999999	D;D	0.76494	0.999;0.979	D;D	0.74023	0.982;0.982	D	0.99445	1.0939	10	0.87932	D	0	.	14.4845	0.67606	0.0:0.9297:0.0:0.0703	.	284;4851	F5H3C7;Q92736	.;RYR2_HUMAN	L	4851;4857;4835;284	ENSP00000355533:F4851L;ENSP00000353174:F4857L;ENSP00000443798:F4835L	ENSP00000353174:F4857L	F	+	3	2	RYR2	236049078	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.050000	0.71063	1.371000	0.46172	0.655000	0.94253	TTC	RYR2	-	pfam_Ion_trans_dom	ENSG00000198626		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	95	0	C	NM_001035		237982455	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	15.48	131	24	SNP	1.000	A	A	237982455	C	A	237982455	3	1	25	1	0	0	0	0	1	0	0	0	13814	912	32	3	14955	3	RYR2	1	237982455	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	187719	237982455	11268166	20	6360											
OR2T6	254879	genome.wustl.edu	37	chr1	248550980	248550980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcactcacaataaatgctCaggattctttttcggtgtca	10	15	6	10	1	5	0	4	0	1	0	6	1	5	1	0	2	1	1	0	2	3	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr1:248550980C>T	ENST00000355728.2	+	1	71	c.71C>T	c.(70-72)tCa>tTa	p.S24L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AATAAATGCTCAGGATTCTTT	0.433																																																	0													162	152	156					1																	248550980		2203	4300	6503	SO:0001583	missense	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.71C>T	1.37:g.248550980C>T	ENSP00000347965:p.Ser24Leu		A6NE36	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S24L	ENST00000355728.2	37	c.71	CCDS31114.1	1	.	.	.	.	.	.	.	.	.	.	C	9.809	1.182712	0.21870	.	.	ENSG00000198104	ENST00000355728	T	0.03035	4.07	4.9	3.73	0.42828	.	0.649485	0.12825	N	0.436157	T	0.03564	0.0102	L	0.44542	1.39	0.09310	N	1	B	0.25007	0.116	B	0.25614	0.062	T	0.38112	-0.9676	10	0.33141	T	0.24	.	2.9127	0.05742	0.2597:0.5514:0.0:0.1889	.	24	Q8NHC8	OR2T6_HUMAN	L	24	ENSP00000347965:S24L	ENSP00000347965:S24L	S	+	2	0	OR2T6	246617603	0.007000	0.16637	0.007000	0.13788	0.048000	0.14542	1.726000	0.38085	2.423000	0.82170	0.643000	0.83706	TCA	OR2T6	-	NULL	ENSG00000198104		0.433	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	-	0	25	0	C	NM_001005471		248550980	1	tier1	-	no_errors	ENST00000355728	ensembl	human	known	74_37	missense	20.41	39	10	SNP	0.000	T	T	248550980	C	T	248550980	3	4	25	1	0	0	0	0	1	0	0	0	11068	838	29	3	73	3	OR2T6	1	248550980	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	10568525	248550980	699641	21	6361											
NRBP1	29959	genome.wustl.edu	37	chr2	27662714	27662714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccacccagcattgtttGaagtgccctcgctcaaactc	8	12	7	14	1	1	1	1	1	0	0	4	1	2	1	3	0	3	4	3	0	2	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:27662714G>C	ENST00000233557.3	+	12	1817	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379863.3_Missense_Mutation_p.E337Q|NRBP1_ENST00000379852.3_Missense_Mutation_p.E329Q|KRTCAP3_ENST00000288873.3_5'Flank|KRTCAP3_ENST00000543753.1_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	329					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AGCATTGTTTGAAGTGCCCTC	0.527																																																	0													121	121	121					2																	27662714		2203	4300	6503	SO:0001583	missense	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"nuclear receptor binding protein"	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.985G>C	2.37:g.27662714G>C	ENSP00000233557:p.Glu329Gln		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E329Q	ENST00000233557.3	37	c.985	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.435253	0.96150	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.36699	1.24;1.24;1.24	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.974;0.997;0.986	T	0.69950	-0.5006	10	0.59425	D	0.04	-9.715	18.0038	0.89204	0.0:0.0:1.0:0.0	.	309;337;329	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	Q	329;309;329;337	ENSP00000233557:E329Q;ENSP00000369181:E329Q;ENSP00000369192:E337Q	ENSP00000233557:E329Q	E	+	1	0	NRBP1	27516218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.610000	0.88304	0.655000	0.94253	GAA	NRBP1	-	NULL	ENSG00000115216		0.527	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	-	0	39	0	G	NM_013392		27662714	1	tier1	-	no_errors	ENST00000233557	ensembl	human	known	74_37	missense	25.00	45	15	SNP	1.000	C	C	27662714	G	C	27662714	3	2	25	1	0	0	0	0	1	0	0	0	10681	1291	45	5	1023	5	NRBP1	2	27662714	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		27662714	215536659	22	6362											
SLC4A1AP	22950	genome.wustl.edu	37	chr2	27905115	27905115	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taattattctttcttcctagGactgaaactcagactacagg	12	14	6	9	0	3	2	1	1	2	1	4	3	4	3	1	2	2	0	1	2	5	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:27905115G>A	ENST00000326019.6	+	9	2046	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	588						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TTCTTCCTAGGACTGAAACTC	0.353																																																	0													46	43	44					2																	27905115		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1764-1G>A	2.37:g.27905115G>A			A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K588	ENST00000326019.6	37	c.1764	CCDS33166.1	2																																																																																			SLC4A1AP	-	NULL	ENSG00000163798		0.353	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	-	0	24	0	G	NM_018158	Silent	27905115	1	tier1	-	no_errors	ENST00000326019	ensembl	human	known	74_37	silent	16.67	30	6	SNP	1.000	A	A	27905115	G	A	27905115	5	1	25	1	0	0	0	0	0	0	1	0	14698	1188	41	3	1798	3	SLC4A1AP	2	27905115	Splice_Site	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	242401	27905115	215294258	23	6363											
ABCG8	64241	genome.wustl.edu	37	chr2	44079810	44079810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacctggtgaagaccttgtCcaggctggccaaaggcaacc	11	6	11	13	0	0	2	0	1	0	1	1	2	1	2	5	4	2	2	5	4	4	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:44079810C>T	ENST00000272286.2	+	6	857	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	256	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAGACCTTGTCCAGGCTGGCC	0.572																																																	0													79	72	74					2																	44079810		2203	4300	6503	SO:0001583	missense	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.767C>T	2.37:g.44079810C>T	ENSP00000272286:p.Ser256Phe		Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	p.S256F	ENST00000272286.2	37	c.767	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493554	0.26774	.	.	ENSG00000143921	ENST00000272286	T	0.42513	0.97	5.06	3.22	0.36961	ABC transporter-like (1);	0.275441	0.42682	D	0.000665	T	0.47948	0.1473	L	0.46157	1.445	0.48288	D	0.999621	D;D	0.61080	0.989;0.982	P;P	0.59643	0.861;0.729	T	0.26467	-1.0102	10	0.23302	T	0.38	.	10.203	0.43097	0.1356:0.7926:0.0:0.0718	.	256;256	Q9H221-2;Q9H221	.;ABCG8_HUMAN	F	256	ENSP00000272286:S256F	ENSP00000272286:S256F	S	+	2	0	ABCG8	43933314	1.000000	0.71417	0.196000	0.23383	0.801000	0.45260	2.939000	0.48995	0.498000	0.27948	0.561000	0.74099	TCC	ABCG8	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000143921		0.572	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	-	0	39	0	C	NM_022437		44079810	1	tier1	-	no_errors	ENST00000272286	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	T	T	44079810	C	T	44079810	3	4	25	1	0	0	0	0	1	0	0	0	72	855	30	3	789	3	ABCG8	2	44079810	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	16174695	44079810	199119563	24	6364											
TTC31	64427	genome.wustl.edu	37	chr2	74717254	74717254	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagctgtggcaccatGgtggggagtgcagggaccgg	6	6	20	9	1	0	0	0	0	0	0	0	2	0	2	2	7	3	5	2	7	0	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:74717254G>A	ENST00000233623.5	+	3	239	c.232G>A	c.(232-234)Gat>Aat	p.D78N	TTC31_ENST00000442235.2_Intron|TTC31_ENST00000410003.1_Splice_Site_p.D78N|TTC31_ENST00000463189.1_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	78										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GTGGCACCATGGTGGGGAGTG	0.627																																																	0													19	23	22					2																	74717254		2040	4203	6243	SO:0001630	splice_region_variant	0			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.232+1G>A	2.37:g.74717254G>A			Q4KN40|Q53FD4|Q9H9F7	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D78N	ENST00000233623.5	37	c.232	CCDS42701.1	2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500066	0.64298	.	.	ENSG00000115282	ENST00000410003;ENST00000435361;ENST00000441635;ENST00000233623	T;T	0.55760	0.5;0.5	3.9	3.01	0.34805	.	0.196377	0.32416	N	0.006140	T	0.46698	0.1406	L	0.56769	1.78	0.80722	D	1	P	0.48162	0.906	B	0.43445	0.42	T	0.40572	-0.9556	10	0.41790	T	0.15	.	7.2817	0.26314	0.1236:0.0:0.8764:0.0	.	78	Q49AM3	TTC31_HUMAN	N	78	ENSP00000387213:D78N;ENSP00000233623:D78N	ENSP00000233623:D78N	D	+	1	0	TTC31	74570762	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.381000	0.44336	0.976000	0.38417	0.561000	0.74099	GAT	TTC31	-	NULL	ENSG00000115282		0.627	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC31	HGNC	protein_coding	OTTHUMT00000328422.1	-	0	94	0	G	NM_022492	Missense_Mutation	74717254	1	tier1	-	no_errors	ENST00000233623	ensembl	human	novel	74_37	missense	12.75	130	19	SNP	1.000	A	A	74717254	G	A	74717254	5	1	25	1	0	0	0	0	0	0	1	0	16749	1362	47	3	242	3	TTC31	2	74717254	Splice_Site	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	30637444	74717254	168482119	25	6365											
DQX1	165545	genome.wustl.edu	37	chr2	74745640	74745640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccctgctgtagaatctGccattccttcccttagctgg	5	14	8	14	0	1	1	0	0	1	1	4	1	4	1	4	1	4	4	4	1	3	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:74745640G>T	ENST00000404568.3	-	12	2306	c.2087C>A	c.(2086-2088)gCa>gAa	p.A696E	DQX1_ENST00000393951.2_Missense_Mutation_p.A696E	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	696						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGTAGAATCTGCCATTCCTTC	0.532																																																	0													154	137	142					2																	74745640		2203	4300	6503	SO:0001583	missense	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.2087C>A	2.37:g.74745640G>T	ENSP00000384621:p.Ala696Glu		Q6B017|Q8NAM8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.A696E	ENST00000404568.3	37	c.2087	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	2.289	-0.362801	0.05103	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02863	4.13;4.13	4.91	2.97	0.34412	.	1.004810	0.08020	N	0.991778	T	0.01421	0.0046	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	10	0.10636	T	0.68	.	9.5682	0.39411	0.0:0.0:0.6183:0.3816	.	696	Q8TE96	DQX1_HUMAN	E	696	ENSP00000377523:A696E;ENSP00000384621:A696E	ENSP00000377523:A696E	A	-	2	0	DQX1	74599148	0.080000	0.21391	0.827000	0.32855	0.784000	0.44337	1.477000	0.35431	1.041000	0.40125	-0.261000	0.10672	GCA	DQX1	-	NULL	ENSG00000144045		0.532	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	-	0	29	0	G	NM_133637		74745640	-1	tier1	-	no_errors	ENST00000393951	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.090	T	T	74745640	G	T	74745640	3	4	25	1	0	0	0	0	1	0	0	0	4765	1319	46	3	70	3	DQX1	2	74745640	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	28386	74745640	168453733	26	6366											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125175095	125175095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgagagcccgatttgttCgctttgtgcccctggaatgg	6	12	13	10	2	0	1	0	1	0	1	1	4	0	2	3	2	2	2	3	2	1	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:125175095C>T	ENST00000431078.1	+	4	821	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	153	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCGATTTGTTCGCTTTGTGCC	0.493																																																	0													96	99	98					2																	125175095		1982	4168	6150	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.457C>T	2.37:g.125175095C>T	ENSP00000399013:p.Arg153Cys		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.R153C	ENST00000431078.1	37	c.457	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880435	0.91740	.	.	ENSG00000155052	ENST00000431078	D	0.99113	-5.44	6.17	6.17	0.99709	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.50627	D	0.000113	D	0.99667	0.9876	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97459	1.0033	10	0.87932	D	0	.	14.3122	0.66424	0.1484:0.8516:0.0:0.0	.	153	Q8WYK1	CNTP5_HUMAN	C	153	ENSP00000399013:R153C	ENSP00000399013:R153C	R	+	1	0	CNTNAP5	124891565	1.000000	0.71417	0.970000	0.41538	0.971000	0.66376	5.489000	0.66875	2.941000	0.99782	0.655000	0.94253	CGC	CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000155052		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	47	0	C			125175095	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	11.86	52	7	SNP	1.000	T	T	125175095	C	T	125175095	3	4	25	1	0	0	0	0	1	0	0	0	3657	884	31	1	471	1	CNTNAP5	2	125175095	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	50429455	125175095	118024278	27	6367											
KIF5C	3800	genome.wustl.edu	37	chr2	149854940	149854940	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggagcagcagatggagagCcaccgggaagctcaccagaa	13	3	14	11	1	1	3	1	0	0	3	1	6	1	5	3	3	4	3	3	3	2	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:149854940C>T	ENST00000435030.1	+	19	2495	c.2127C>T	c.(2125-2127)agC>agT	p.S709S	KIF5C_ENST00000397413.1_Silent_p.S477S|KIF5C_ENST00000414838.2_Silent_p.S614S|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	709					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGATGGAGAGCCACCGGGAAG	0.557																																																	0													20	23	22					2																	149854940		2094	4227	6321	SO:0001819	synonymous_variant	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2127C>T	2.37:g.149854940C>T			O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S709	ENST00000435030.1	37	c.2127		2																																																																																			KIF5C	-	NULL	ENSG00000168280		0.557	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	-	0	47	0	C	NM_004522		149854940	1	tier1	-	no_errors	ENST00000435030	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.998	T	T	149854940	C	T	149854940	2	4	25	1	0	0	0	0	0	0	0	1	8334	738	26	3		3	KIF5C	2	149854940	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	24679845	149854940	93344433	28	6368											
TTN	7273	genome.wustl.edu	37	chr2	179399772	179399772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttctttaccaaaaccTgatcagtccctttgacttta	9	17	3	12	0	2	2	1	2	1	0	4	2	4	2	4	0	2	0	4	0	4	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:179399772T>C	ENST00000591111.1	-	308	96871	c.96647A>G	c.(96646-96648)cAg>cGg	p.Q32216R	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q24917R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q24984R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q33857R|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q24792R|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q31289R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAAACCTGATCAGTCCC	0.378																																																	0													109	105	107					2																	179399772		1878	4104	5982	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96647A>G	2.37:g.179399772T>C	ENSP00000465570:p.Gln32216Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q31289R	ENST00000591111.1	37	c.93866		2	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820903	0.50633	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.62804	0.2458	N	0.10760	0.04	0.54753	D	0.999984	B;B;B;B	0.22800	0.038;0.038;0.038;0.075	B;B;B;P	0.49477	0.328;0.328;0.328;0.612	T	0.68769	-0.5321	9	0.87932	D	0	.	16.0066	0.80367	0.0:0.0:0.0:1.0	.	24792;24917;24984;32216	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	31289;24792;24984;24917;24789	ENSP00000343764:Q31289R;ENSP00000434586:Q24792R;ENSP00000340554:Q24984R;ENSP00000352154:Q24917R	ENSP00000340554:Q24984R	Q	-	2	0	TTN	179108018	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.039000	0.57325	2.178000	0.69098	0.455000	0.32223	CAG	TTN	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	48	0	T	NM_133378		179399772	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	C	C	179399772	T	C	179399772	3	2	25	1	0	0	0	0	1	0	0	0	16784	1580	55	4	6429	4	TTN	2	179399772	Missense_Mutation	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	29544832	179399772	63799601	29	6369											
SATB2	23314	genome.wustl.edu	37	chr2	200213692	200213692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttacaagttgtggactaAgctggggagaaagaagacca	14	7	13	7	0	0	3	0	0	0	3	0	5	0	4	2	3	2	2	2	3	5	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:200213692A>T	ENST00000417098.1	-	7	1721	c.905T>A	c.(904-906)cTt>cAt	p.L302H	SATB2_ENST00000260926.5_Missense_Mutation_p.L302H|SATB2_ENST00000457245.1_Missense_Mutation_p.L302H|SATB2_ENST00000428695.1_Missense_Mutation_p.L184H|SATB2_ENST00000443023.1_Missense_Mutation_p.L243H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	302					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGTGGACTAAGCTGGGGAGA	0.517																																					Colon(30;262 767 11040 24421 36230)												0													169	172	171					2																	200213692		2203	4300	6503	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.905T>A	2.37:g.200213692A>T	ENSP00000401112:p.Leu302His		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.L302H	ENST00000417098.1	37	c.905	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515181	0.85389	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.58358	0.36;0.34;0.36;0.37;0.36	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	L	0.29908	0.895	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.986	T	0.66799	-0.5832	10	0.87932	D	0	-13.5544	15.7643	0.78114	1.0:0.0:0.0:0.0	.	184;50;302	Q3ZB87;Q9H726;Q9UPW6	.;.;SATB2_HUMAN	H	302;243;302;184;302	ENSP00000401112:L302H;ENSP00000388764:L243H;ENSP00000260926:L302H;ENSP00000388581:L184H;ENSP00000405420:L302H	ENSP00000260926:L302H	L	-	2	0	SATB2	199921937	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.858000	0.92256	2.190000	0.69967	0.533000	0.62120	CTT	SATB2	-	NULL	ENSG00000119042		0.517	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	-	0	147	0	A	NM_015265		200213692	-1	tier1	-	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	12.92	153	23	SNP	1.000	T	T	200213692	A	T	200213692	3	4	25	1	0	0	0	0	1	0	0	0	13899	72	3	5	1316	5	SATB2	2	200213692	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	20813920	200213692	42985681	30	6370											
TRPM8	79054	genome.wustl.edu	37	chr2	234854530	234854530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcccagtaccttatggatGacttcacaagagatccactg	12	10	8	11	0	1	2	1	1	0	1	2	4	2	3	3	1	2	1	3	1	4	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:234854530G>A	ENST00000324695.4	+	7	770	c.730G>A	c.(730-732)Gac>Aac	p.D244N	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	244					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTTATGGATGACTTCACAAG	0.408																																																	0													129	118	122					2																	234854530		2203	4300	6503	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.730G>A	2.37:g.234854530G>A	ENSP00000323926:p.Asp244Asn		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D244N	ENST00000324695.4	37	c.730	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560085	0.65538	.	.	ENSG00000144481	ENST00000324695	T	0.57595	0.39	5.72	5.72	0.89469	.	0.071876	0.56097	D	0.000023	T	0.46444	0.1393	L	0.38531	1.155	0.80722	D	1	P	0.34462	0.454	B	0.32677	0.15	T	0.42816	-0.9429	10	0.46703	T	0.11	-35.6154	18.4603	0.90736	0.0:0.0:1.0:0.0	.	244	Q7Z2W7	TRPM8_HUMAN	N	244	ENSP00000323926:D244N	ENSP00000323926:D244N	D	+	1	0	TRPM8	234519269	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.379000	0.73154	2.717000	0.92951	0.655000	0.94253	GAC	TRPM8	-	NULL	ENSG00000144481		0.408	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	-	0	41	0	G	NM_024080		234854530	1	tier1	-	no_errors	ENST00000324695	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	A	A	234854530	G	A	234854530	3	1	25	1	0	0	0	0	1	0	0	0	16640	1290	45	3	752	3	TRPM8	2	234854530	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	34640838	234854530	8344843	31	6371											
D2HGDH	728294	genome.wustl.edu	37	chr2	242681932	242681932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgtccccgtctttgacGagatcatcctctccactgcc	6	10	8	17	3	3	2	1	1	2	1	6	3	5	2	5	0	2	1	5	0	0	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr2:242681932G>A	ENST00000321264.4	+	4	642	c.433G>A	c.(433-435)Gag>Aag	p.E145K	D2HGDH_ENST00000537090.1_Missense_Mutation_p.E145K|D2HGDH_ENST00000342518.6_Missense_Mutation_p.E145K|D2HGDH_ENST00000403782.1_Missense_Mutation_p.E11K	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	145	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGTCTTTGACGAGATCATCCT	0.647																																																	0													107	83	91					2																	242681932		2203	4296	6499	SO:0001583	missense	0			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.433G>A	2.37:g.242681932G>A	ENSP00000315351:p.Glu145Lys		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.E145K	ENST00000321264.4	37	c.433	CCDS33426.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.289505	0.95517	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95;-3.95;-3.76	5.06	5.06	0.68205	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99453	1.0941	10	0.87932	D	0	.	18.4273	0.90613	0.0:0.0:1.0:0.0	.	145	Q8N465	D2HDH_HUMAN	K	145;145;11;145;29;15	ENSP00000442796:E145K;ENSP00000315351:E145K;ENSP00000384723:E11K;ENSP00000339536:E145K;ENSP00000412511:E29K;ENSP00000404596:E15K	ENSP00000315351:E145K	E	+	1	0	D2HGDH	242330605	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	9.020000	0.93667	2.362000	0.80069	0.555000	0.69702	GAG	D2HGDH	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	ENSG00000180902		0.647	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	D2HGDH	HGNC	protein_coding	OTTHUMT00000322794.2	-	0	14	0	G	NM_152783		242681932	1	tier1	-	no_errors	ENST00000321264	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	A	A	242681932	G	A	242681932	3	1	25	1	0	0	0	0	1	0	0	0	4222	1059	37	1	443	1	D2HGDH	2	242681932	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	7827402	242681932	517441	32	6372											
CNTN6	27255	genome.wustl.edu	37	chr3	1427311	1427311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcttatactggacagAtgactccaaagaatccatga	14	10	8	9	0	2	4	1	2	1	2	4	5	4	5	2	2	1	0	2	2	4	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:1427311A>G	ENST00000446702.2	+	20	3161	c.2534A>G	c.(2533-2535)gAt>gGt	p.D845G	CNTN6_ENST00000350110.2_Missense_Mutation_p.D845G|CNTN6_ENST00000539053.1_Missense_Mutation_p.D773G			Q9UQ52	CNTN6_HUMAN	contactin 6	845	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TACTGGACAGATGACTCCAAA	0.358																																																	0													124	134	130					3																	1427311		2203	4300	6503	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2534A>G	3.37:g.1427311A>G	ENSP00000407822:p.Asp845Gly		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D845G	ENST00000446702.2	37	c.2534	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	13.20	2.165620	0.38217	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.57752	0.38;0.38;0.38	5.75	5.75	0.90469	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.196973	0.35525	N	0.003151	T	0.57140	0.2033	L	0.51853	1.615	0.37845	D	0.929181	P	0.50819	0.939	P	0.50860	0.652	T	0.58008	-0.7712	10	0.25106	T	0.35	.	16.0681	0.80903	1.0:0.0:0.0:0.0	.	845	Q9UQ52	CNTN6_HUMAN	G	845;773;845	ENSP00000407822:D845G;ENSP00000442791:D773G;ENSP00000341882:D845G	ENSP00000341882:D845G	D	+	2	0	CNTN6	1402311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.051000	0.64257	2.188000	0.69820	0.528000	0.53228	GAT	CNTN6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134115		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0	44	0	A	NM_014461		1427311	1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.991	G	G	1427311	A	G	1427311	3	3	25	1	0	0	0	0	1	0	0	0	3652	333	12	4	2608	4	CNTN6	3	1427311	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09		1427311	196595119	33	6373											
ATP2B2	491	genome.wustl.edu	37	chr3	10382387	10382387	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatctggaacatcttctcGcctgccaagtgagagagtgg	9	10	12	10	2	3	2	0	1	3	1	5	5	3	3	2	2	2	0	2	2	2	1	rs574402898	byFrequency	TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:10382387G>T	ENST00000352432.4	-	19	2988	c.2919C>A	c.(2917-2919)ggC>ggA	p.G973G	ATP2B2_ENST00000360273.2_Splice_Site_p.G973G|ATP2B2_ENST00000343816.4_Splice_Site_p.G959G|ATP2B2_ENST00000397077.1_Splice_Site_p.G928G|ATP2B2_ENST00000383800.4_Splice_Site_p.G928G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	973					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.G928G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACATCTTCTCGCCTGCCAAGT	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)												1	Substitution - coding silent(1)	prostate(1)											92	81	85					3																	10382387		2203	4300	6503	SO:0001630	splice_region_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2918-1C>A	3.37:g.10382387G>T			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.G973	ENST00000352432.4	37	c.2919	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000157087		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2		0	29	0	G	NM_001683	Silent	10382387	-1			no_errors	ENST00000352432	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.661	T	T	10382387	G	T	10382387	5	4	25	1	0	0	0	0	0	0	1	0	1141	1101	38	2	828	2	ATP2B2	3	10382387	Splice_Site	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	8955076	10382387	187640043	34	6374											
TTC21A	199223	genome.wustl.edu	37	chr3	39172546	39172546	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgctggcaaaggtttacaAgagccataaaaaagaagctg	16	9	10	6	0	0	2	0	0	0	2	0	2	0	2	1	2	4	4	1	2	7	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:39172546A>T	ENST00000431162.2	+	19	2677	c.2543A>T	c.(2542-2544)aAg>aTg	p.K848M	TTC21A_ENST00000440121.1_Missense_Mutation_p.K800M|TTC21A_ENST00000301819.6_Missense_Mutation_p.K849M			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	848										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAGGTTTACAAGAGCCATAAA	0.418																																																	0													77	72	74					3																	39172546		1881	4111	5992	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2543A>T	3.37:g.39172546A>T	ENSP00000398211:p.Lys848Met		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K849M	ENST00000431162.2	37	c.2546	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	A	12.90	2.077287	0.36662	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.64260	-0.09;-0.09;0.02	4.72	2.29	0.28610	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.326325	0.25954	N	0.027234	T	0.74733	0.3755	M	0.81112	2.525	0.25695	N	0.985645	D;P;P	0.89917	1.0;0.948;0.914	D;P;P	0.67548	0.952;0.715;0.522	T	0.64918	-0.6294	10	0.52906	T	0.07	-4.1253	8.4411	0.32816	0.8326:0.0:0.1674:0.0	.	800;849;848	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	M	849;831;848;800	ENSP00000301819:K849M;ENSP00000398211:K848M;ENSP00000410882:K800M	ENSP00000301819:K849M	K	+	2	0	TTC21A	39147550	0.788000	0.28762	0.068000	0.19968	0.166000	0.22503	1.288000	0.33296	0.268000	0.21939	0.455000	0.32223	AAG	TTC21A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168026		0.418	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1		0	38	0	A	NM_145755		39172546	1			no_errors	ENST00000301819	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.662	T	T	39172546	A	T	39172546	3	4	25	1	0	0	0	0	1	0	0	0	16736	72	3	5	2620	5	TTC21A	3	39172546	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	28790159	39172546	158849884	35	6375											
WDR6	11180	genome.wustl.edu	37	chr3	49051540	49051540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggatggttaaggtagaccCagagaccaggtaatatatgc	13	9	12	7	1	0	2	0	0	0	2	1	4	0	3	2	4	1	3	2	4	5	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:49051540C>G	ENST00000608424.1	+	2	2612	c.2573C>G	c.(2572-2574)cCa>cGa	p.P858R	WDR6_ENST00000448293.1_Missense_Mutation_p.P807R|WDR6_ENST00000415265.2_Missense_Mutation_p.P306R|WDR6_ENST00000395474.3_Missense_Mutation_p.P888R			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	858					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AAGGTAGACCCAGAGACCAGG	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	60	63					3																	49051540		2203	4300	6503	SO:0001583	missense	0			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2573C>G	3.37:g.49051540C>G	ENSP00000477389:p.Pro858Arg	959	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P888R	ENST00000608424.1	37	c.2663		3	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387222	0.61956	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T	0.78364	-1.17;-1.15	5.39	5.39	0.77823	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87334	0.6151	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.992	D	0.84111	0.0401	10	0.26408	T	0.33	-14.9553	19.5197	0.95180	0.0:1.0:0.0:0.0	.	306;858;807	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	R	888;306;807	ENSP00000378857:P888R;ENSP00000413432:P807R	ENSP00000378857:P888R	P	+	2	0	WDR6	49026544	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	7.533000	0.81994	2.689000	0.91719	0.561000	0.74099	CCA	WDR6	-	superfamily_WD40_repeat_dom	ENSG00000178252		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	-	0	54	0	C			49051540	1	tier1	-	no_errors	ENST00000395474	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	G	G	49051540	C	G	49051540	3	3	25	1	0	0	0	0	1	0	0	0	17359	594	21	5	2669	5	WDR6	3	49051540	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	9878994	49051540	148970890	36	6376											
BSN	8927	genome.wustl.edu	37	chr3	49693542	49693542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagctgctgccgtccacaGccactgtacgtgcagctgat	8	8	11	14	2	0	1	0	1	0	0	1	2	1	1	3	0	7	5	3	0	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:49693542G>C	ENST00000296452.4	+	5	6667	c.6553G>C	c.(6553-6555)Gcc>Ccc	p.A2185P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2185					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.A2185T(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCGTCCACAGCCACTGTACG	0.602																																																	1	Substitution - Missense(1)	lung(1)											53	47	49					3																	49693542		2203	4299	6502	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.6553G>C	3.37:g.49693542G>C	ENSP00000296452:p.Ala2185Pro		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.A2185P	ENST00000296452.4	37	c.6553	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614585	0.46631	.	.	ENSG00000164061	ENST00000296452	T	0.26223	1.75	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.49949	0.1587	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.74674	0.984	T	0.47749	-0.9093	10	0.72032	D	0.01	-9.0022	19.454	0.94880	0.0:0.0:1.0:0.0	.	2185	Q9UPA5	BSN_HUMAN	P	2185	ENSP00000296452:A2185P	ENSP00000296452:A2185P	A	+	1	0	BSN	49668546	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.760000	0.85248	2.605000	0.88082	0.655000	0.94253	GCC	BSN	-	NULL	ENSG00000164061		0.602	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0	30	0	G	NM_003458		49693542	1	tier1	-	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	C	C	49693542	G	C	49693542	3	2	25	1	0	0	0	0	1	0	0	0	1534	971	34	5	6571	5	BSN	3	49693542	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	642002	49693542	148328888	37	6377											
EBLN2	55096	genome.wustl.edu	37	chr3	73111574	73111574	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctatgctagacccagcAcataaatctcatttccaccc	13	10	4	14	0	2	1	1	0	2	1	4	1	3	1	3	0	2	2	3	0	5	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:73111574A>G	ENST00000533473.1	+	1	765	c.342A>G	c.(340-342)gcA>gcG	p.A114A	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	114										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TAGACCCAGCACATAAATCTC	0.433																																																	0													67	62	63					3																	73111574		1906	4104	6010	SO:0001819	synonymous_variant	0				CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"endogenous Borna-like N element 2"	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.342A>G	3.37:g.73111574A>G			Q8WWH3|Q9NW89	Silent	SNP	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir	p.A114	ENST00000533473.1	37	c.342	CCDS54608.1	3																																																																																			EBLN2	-	pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir	ENSG00000255423		0.433	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBLN2	HGNC	protein_coding	OTTHUMT00000386932.1	-	0	31	0	A	NM_018029		73111574	1	tier1	-	no_errors	ENST00000533473	ensembl	human	known	74_37	silent	27.27	24	9	SNP	0.000	G	G	73111574	A	G	73111574	2	3	25	1	0	0	0	0	0	0	0	1	4898	146	6	4		4	EBLN2	3	73111574	Silent	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	23418032	73111574	124910856	38	6378											
MYLK	4638	genome.wustl.edu	37	chr3	123453016	123453016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcctttgagattacattgGtcacctctttcctgacatct	8	16	5	12	0	3	2	1	2	2	1	5	3	5	2	3	1	1	0	3	1	1	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:123453016G>T	ENST00000475616.1	-	7	826	c.827C>A	c.(826-828)aCc>aAc	p.T276N	MYLK_ENST00000346322.5_Missense_Mutation_p.T276N|MYLK_ENST00000359169.1_Missense_Mutation_p.T276N|MYLK_ENST00000360304.3_Missense_Mutation_p.T276N|MYLK_ENST00000360772.3_Missense_Mutation_p.T276N			Q15746	MYLK_HUMAN	myosin light chain kinase	276			T -> A. {ECO:0000269|PubMed:17344846}.		actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GATTACATTGGTCACCTCTTT	0.557																																																	0													87	82	84					3																	123453016		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.827C>A	3.37:g.123453016G>T	ENSP00000418335:p.Thr276Asn		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T276N	ENST00000475616.1	37	c.827	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462576	0.26248	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.67171	-0.25;-0.19;-0.25;-0.19;-0.19	5.43	3.56	0.40772	.	.	.	.	.	T	0.57272	0.2042	L	0.29908	0.895	0.42207	D	0.991799	P;B;P;B;D	0.59767	0.9;0.403;0.9;0.403;0.986	P;B;P;B;P	0.53062	0.576;0.087;0.576;0.087;0.717	T	0.53823	-0.8384	9	0.20046	T	0.44	.	4.4716	0.11715	0.0845:0.1515:0.6077:0.1563	.	276;276;276;276;276	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	276	ENSP00000354004:T276N;ENSP00000353452:T276N;ENSP00000352088:T276N;ENSP00000320622:T276N;ENSP00000418335:T276N	ENSP00000320622:T276N	T	-	2	0	MYLK	124935706	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	2.449000	0.44935	1.519000	0.48950	0.655000	0.94253	ACC	MYLK	-	NULL	ENSG00000065534		0.557	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1		0	15	0	G	NM_053025		123453016	-1			no_errors	ENST00000360304	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.685	T	T	123453016	G	T	123453016	3	4	25	1	0	0	0	0	1	0	0	0	10094	1261	44	3	5017	3	MYLK	3	123453016	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	50341442	123453016	74569414	39	6379											
PLXND1	23129	genome.wustl.edu	37	chr3	129290394	129290394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacggccatggacacattCtgcaccatgtggaaacgctc	10	8	11	12	2	1	0	0	0	1	0	2	3	1	3	2	4	2	2	2	4	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:129290394C>G	ENST00000324093.4	-	17	3472	c.3294G>C	c.(3292-3294)caG>caC	p.Q1098H	PLXND1_ENST00000393239.1_Missense_Mutation_p.Q1098H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1098	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGACACATTCTGCACCATGT	0.662																																					Ovarian(97;366 1484 3738 22084 39045)												0													55	57	57					3																	129290394		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3294G>C	3.37:g.129290394C>G	ENSP00000317128:p.Gln1098His		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Q1098H	ENST00000324093.4	37	c.3294	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758795	0.89843	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.78003	-1.14;-1.14	4.74	4.74	0.60224	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.247728	0.36893	N	0.002359	D	0.88629	0.6488	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90297	0.4327	10	0.66056	D	0.02	.	17.7426	0.88411	0.0:1.0:0.0:0.0	.	1098	Q9Y4D7	PLXD1_HUMAN	H	1098	ENSP00000317128:Q1098H;ENSP00000376931:Q1098H	ENSP00000317128:Q1098H	Q	-	3	2	PLXND1	130773084	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	6.671000	0.74472	2.196000	0.70406	0.561000	0.74099	CAG	PLXND1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000004399		0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4		0	34	0	C	NM_015103		129290394	-1			no_errors	ENST00000324093	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	G	G	129290394	C	G	129290394	3	3	25	1	0	0	0	0	1	0	0	0	12166	912	32	5	2563	5	PLXND1	3	129290394	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	5837378	129290394	68732036	40	6380											
DNAJC13	23317	genome.wustl.edu	37	chr3	132242519	132242519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcttattgccctgttaGaaaaattaactgagctccta	13	15	5	8	0	1	2	0	1	1	1	2	2	2	2	2	0	3	2	2	0	7	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:132242519G>A	ENST00000260818.6	+	51	6270	c.6022G>A	c.(6022-6024)Gaa>Aaa	p.E2008K		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	2008					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGCCCTGTTAGAAAAATTAAC	0.403																																																	0													73	79	77					3																	132242519		2202	4299	6501	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.6022G>A	3.37:g.132242519G>A	ENSP00000260818:p.Glu2008Lys		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.E2008K	ENST00000260818.6	37	c.6022	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564809	0.86439	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.48836	0.8	5.25	4.38	0.52667	Armadillo-like helical (1);Armadillo-type fold (1);	0.106561	0.64402	N	0.000006	T	0.50854	0.1640	M	0.71036	2.16	0.58432	D	0.999998	P	0.47302	0.893	B	0.43680	0.427	T	0.55418	-0.8144	10	0.44086	T	0.13	.	14.0024	0.64442	0.0732:0.0:0.9268:0.0	.	2008	O75165	DJC13_HUMAN	K	2008;655	ENSP00000260818:E2008K	ENSP00000260818:E2008K	E	+	1	0	DNAJC13	133725209	1.000000	0.71417	0.927000	0.36925	0.957000	0.61999	9.154000	0.94694	1.345000	0.45676	0.557000	0.71058	GAA	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0	26	0	G	NM_015268		132242519	1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	A	A	132242519	G	A	132242519	3	1	25	1	0	0	0	0	1	0	0	0	4646	943	33	3	6220	3	DNAJC13	3	132242519	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	2952125	132242519	65779911	41	6381											
PLOD2	5352	genome.wustl.edu	37	chr3	145806375	145806375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctcaaatacttacttTgttatgaataaaaagtttaa	16	17	3	5	0	1	1	1	1	1	0	2	1	1	1	0	0	2	2	0	0	9	8			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:145806375T>C	ENST00000360060.3	-	9	1180	c.1003A>G	c.(1003-1005)Aaa>Gaa	p.K335E	PLOD2_ENST00000282903.5_Missense_Mutation_p.K335E|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_5'Flank|PLOD2_ENST00000494950.1_Missense_Mutation_p.K280E	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	335					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATACTTACTTTGTTATGAATA	0.289																																																	0													49	49	49					3																	145806375		2200	4297	6497	SO:0001583	missense	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1003A>G	3.37:g.145806375T>C	ENSP00000353170:p.Lys335Glu		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.K335E	ENST00000360060.3	37	c.1003	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453402	0.63290	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950	D;D;D	0.84442	-1.85;-1.85;-1.85	5.38	5.38	0.77491	.	0.289528	0.42821	D	0.000656	T	0.76579	0.4007	N	0.24115	0.695	0.37219	D	0.905188	B;B;B	0.18013	0.025;0.004;0.002	B;B;B	0.18871	0.022;0.01;0.023	T	0.73858	-0.3850	10	0.24483	T	0.36	-21.4329	15.3892	0.74729	0.0:0.0:0.0:1.0	.	280;335;335	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	E	335;335;280	ENSP00000282903:K335E;ENSP00000353170:K335E;ENSP00000420094:K280E	ENSP00000282903:K335E	K	-	1	0	PLOD2	147289065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.901000	0.69861	2.040000	0.60383	0.528000	0.53228	AAA	PLOD2	-	NULL	ENSG00000152952		0.289	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1	-	0	22	0	T	NM_000935		145806375	-1	tier1	-	no_errors	ENST00000282903	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	C	C	145806375	T	C	145806375	3	2	25	1	0	0	0	0	1	0	0	0	12141	1821	63	4	1321	4	PLOD2	3	145806375	Missense_Mutation	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	13563856	145806375	52216055	42	6382											
KCNAB1	7881	genome.wustl.edu	37	chr3	156254522	156254522	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaagccctacagcaagaagGactatagatcataaggcaat	18	6	8	9	0	1	2	1	0	0	2	1	3	1	3	1	2	3	2	1	2	8	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:156254522G>C	ENST00000490337.1	+	14	1310	c.1246G>C	c.(1246-1248)Gac>Cac	p.D416H	KCNAB1_ENST00000302490.8_Missense_Mutation_p.D398H|KCNAB1_ENST00000471742.1_Missense_Mutation_p.D405H|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.D369H|KCNAB1_ENST00000389636.5_Missense_Mutation_p.D387H	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	416					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CAGCAAGAAGGACTATAGATC	0.433																																																	0													148	129	135					3																	156254522		2203	4300	6503	SO:0001583	missense	0			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1246G>C	3.37:g.156254522G>C	ENSP00000419952:p.Asp416His		A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.D416H	ENST00000490337.1	37	c.1246	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828254	0.90955	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.11385	3.0;2.78;3.02;3.07;2.8	5.6	5.6	0.85130	.	0.043325	0.85682	D	0.000000	T	0.30039	0.0752	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.996;0.993;0.999;0.998	D;D;P;D;D	0.71656	0.916;0.955;0.903;0.974;0.942	T	0.00549	-1.1676	10	0.87932	D	0	-12.1993	19.6045	0.95575	0.0:0.0:1.0:0.0	.	387;369;398;405;416	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	H	416;387;405;398;369	ENSP00000419952:D416H;ENSP00000374287:D387H;ENSP00000418956:D405H;ENSP00000305858:D398H;ENSP00000374285:D369H	ENSP00000305858:D398H	D	+	1	0	KCNAB1	157737216	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.294000	0.96088	2.623000	0.88846	0.585000	0.79938	GAC	KCNAB1	-	NULL	ENSG00000169282		0.433	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	-	0	64	0	G	NM_003471		156254522	1	tier1	-	no_errors	ENST00000490337	ensembl	human	known	74_37	missense	9.45	115	12	SNP	1.000	C	C	156254522	G	C	156254522	3	2	25	1	0	0	0	0	1	0	0	0	8036	1174	41	5	1771	5	KCNAB1	3	156254522	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	10448147	156254522	41767908	43	6383											
CCNL1	57018	genome.wustl.edu	37	chr3	156868143	156868143	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcgaacaaacacattGgttcgaagactgtcattcat	15	11	7	8	2	2	2	2	1	0	1	4	4	2	2	0	1	2	1	0	1	4	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:156868143G>T	ENST00000295926.3	-	6	820	c.702C>A	c.(700-702)acC>acA	p.T234T	CCNL1_ENST00000479052.1_5'UTR|CCNL1_ENST00000461804.1_Silent_p.T234T	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	234	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CAAACACATTGGTTCGAAGAC	0.373																																																	0													105	97	100					3																	156868143		2203	4300	6503	SO:0001819	synonymous_variant	0			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.702C>A	3.37:g.156868143G>T			B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.T234	ENST00000295926.3	37	c.702	CCDS3178.1	3																																																																																			CCNL1	-	superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	ENSG00000163660		0.373	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	-	0	32	0	G	NM_020307		156868143	-1	tier1	-	no_errors	ENST00000295926	ensembl	human	known	74_37	silent	8.06	57	5	SNP	1.000	T	T	156868143	G	T	156868143	2	4	25	1	0	0	0	0	0	0	0	1	2938	1335	47	3		3	CCNL1	3	156868143	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	613621	156868143	41154287	44	6384											
SEC62	7095	genome.wustl.edu	37	chr3	169710777	169710777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaactggaacagcaaacaGatggggattgtgaagaggat	16	6	15	4	0	0	3	0	1	0	2	0	7	0	7	0	5	4	1	0	5	4	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:169710777G>C	ENST00000337002.4	+	8	1184	c.1126G>C	c.(1126-1128)Gat>Cat	p.D376H	SEC62_ENST00000480708.1_Missense_Mutation_p.D376H	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	376					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						ACAGCAAACAGATGGGGATTG	0.398																																																	0													63	55	58					3																	169710777		2203	4300	6503	SO:0001583	missense	0			D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"translocation protein 1"	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	ENST00000337002.4:c.1126G>C	3.37:g.169710777G>C	ENSP00000337688:p.Asp376His		D3DNQ0|O00682|O00729	Missense_Mutation	SNP	pfam_Sec62,superfamily_ABC1_TM_dom	p.D376H	ENST00000337002.4	37	c.1126	CCDS3210.1	3	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030939	0.35797	.	.	ENSG00000008952	ENST00000337002;ENST00000537426;ENST00000544081;ENST00000480708	T;T	0.32272	1.46;1.46	5.76	5.76	0.90799	.	0.096822	0.64402	D	0.000001	T	0.33206	0.0855	N	0.24115	0.695	0.53688	D	0.999978	P	0.44578	0.838	P	0.47206	0.541	T	0.07028	-1.0794	10	0.66056	D	0.02	-10.9269	19.9658	0.97266	0.0:0.0:1.0:0.0	.	376	Q99442	SEC62_HUMAN	H	376;100;100;376	ENSP00000337688:D376H;ENSP00000420331:D376H	ENSP00000337688:D376H	D	+	1	0	SEC62	171193471	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	7.163000	0.77524	2.721000	0.93114	0.591000	0.81541	GAT	SEC62	-	NULL	ENSG00000008952		0.398	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC62	HGNC	protein_coding	OTTHUMT00000352043.1		0	20	0	G			169710777	1			no_errors	ENST00000337002	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	C	C	169710777	G	C	169710777	3	2	25	1	0	0	0	0	1	0	0	0	14049	942	33	5	1156	5	SEC62	3	169710777	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	12842634	169710777	28311653	45	6385											
NLGN1	22871	genome.wustl.edu	37	chr3	173525560	173525560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatttatatgatggaaGtgtcttggcaagttatggca	12	14	12	3	0	1	1	0	1	1	0	1	3	1	3	0	4	0	3	0	4	6	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr3:173525560G>T	ENST00000457714.1	+	4	1013	c.584G>T	c.(583-585)aGt>aTt	p.S195I	NLGN1_ENST00000361589.4_Missense_Mutation_p.S195I|NLGN1_ENST00000401917.3_Missense_Mutation_p.S235I|NLGN1_ENST00000545397.1_Missense_Mutation_p.S195I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	212					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.S195N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TATGATGGAAGTGTCTTGGCA	0.428																																																	1	Substitution - Missense(1)	lung(1)											171	165	167					3																	173525560		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.584G>T	3.37:g.173525560G>T	ENSP00000392500:p.Ser195Ile		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.S235I	ENST00000457714.1	37	c.704	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018505	0.93404	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.985;0.999	D	0.85524	0.1205	10	0.87932	D	0	.	19.2403	0.93879	0.0:0.0:1.0:0.0	.	235;195	D2X2H5;Q8N2Q7-2	.;.	I	195;195;235;195;235	ENSP00000392500:S195I;ENSP00000354541:S195I;ENSP00000410374:S235I;ENSP00000441108:S195I;ENSP00000385750:S235I	ENSP00000354541:S195I	S	+	2	0	NLGN1	175008254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.555000	0.86185	0.557000	0.71058	AGT	NLGN1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000169760		0.428	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3		0	18	0	G	NM_014932		173525560	1			no_errors	ENST00000401917	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	173525560	G	T	173525560	3	4	25	1	0	0	0	0	1	0	0	0	10500	1029	36	3	590	3	NLGN1	3	173525560	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	3814783	173525560	24496870	46	6386											
STIM2	57620	genome.wustl.edu	37	chr4	27009196	27009196	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaaaaagaatttgaactGagaagcagttggtctgttcc	13	10	11	7	1	1	3	0	2	1	2	2	5	2	3	2	1	2	3	2	1	5	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr4:27009196G>T	ENST00000467011.1	+	8	1448	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L	STIM2_ENST00000467087.1_Silent_p.L341L|STIM2_ENST00000465503.1_Silent_p.L341L|STIM2_ENST00000237364.5_Silent_p.L428L|STIM2_ENST00000412829.2_Silent_p.L428L|STIM2_ENST00000382009.3_Silent_p.L428L	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	341					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AATTTGAACTGAGAAGCAGTT	0.403																																																	0													66	65	65					4																	27009196		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1023G>T	4.37:g.27009196G>T			A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.L428	ENST00000467011.1	37	c.1284	CCDS54752.1	4																																																																																			STIM2	-	NULL	ENSG00000109689		0.403	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1		0	23	0	G	NM_020860		27009196	1			no_errors	ENST00000382009	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.983	T	T	27009196	G	T	27009196	2	4	25	1	0	0	0	0	0	0	0	1	15331	1277	45	3		3	STIM2	4	27009196	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		27009196	164145080	47	6387											
GUF1	60558	genome.wustl.edu	37	chr4	44691414	44691414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatagtagccttgctctggGtgctggctggaggtaagatt	7	12	16	6	0	1	1	0	0	1	1	1	3	1	3	1	5	3	5	1	5	3	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr4:44691414G>A	ENST00000281543.5	+	10	1384	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						CTTGCTCTGGGTGCTGGCTGG	0.368																																																	0													128	132	131					4																	44691414		2203	4300	6503	SO:0001583	missense	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1190G>A	4.37:g.44691414G>A	ENSP00000281543:p.Gly397Asp			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.G397D	ENST00000281543.5	37	c.1190	CCDS3468.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.146781	0.94603	.	.	ENSG00000151806	ENST00000281543	T	0.73258	-0.73	5.72	5.72	0.89469	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.89781	0.6814	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92507	0.6013	10	0.87932	D	0	-19.0096	18.875	0.92331	0.0:0.0:1.0:0.0	.	397	Q8N442	GUF1_HUMAN	D	397	ENSP00000281543:G397D	ENSP00000281543:G397D	G	+	2	0	GUF1	44386171	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	9.461000	0.97646	2.689000	0.91719	0.650000	0.86243	GGT	GUF1	-	superfamily_EFG_III-V,tigrfam_EF-4	ENSG00000151806		0.368	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3		0	45	0	G	NM_021927		44691414	1			no_errors	ENST00000281543	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	A	A	44691414	G	A	44691414	3	1	25	1	0	0	0	0	1	0	0	0	6926	1261	44	3	1228	3	GUF1	4	44691414	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	17682218	44691414	146462862	48	6388											
UTP3	57050	genome.wustl.edu	37	chr4	71555258	71555258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatttgatcctgaaagctagGagagtcccagcacatggaca	13	9	10	9	0	0	3	0	2	0	1	2	5	2	4	2	2	2	2	2	2	3	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr4:71555258G>C	ENST00000254803.2	+	1	1063	c.864G>C	c.(862-864)agG>agC	p.R288S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	288					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAAAGCTAGGAGAGTCCCAG	0.433																																																	0													182	183	183					4																	71555258		2203	4300	6503	SO:0001583	missense	0			AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"disrupter of silencing 10"	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.864G>C	4.37:g.71555258G>C	ENSP00000254803:p.Arg288Ser		Q6FI82	Missense_Mutation	SNP	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.R288S	ENST00000254803.2	37	c.864	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069876	0.36566	.	.	ENSG00000132467	ENST00000254803	T	0.28454	1.61	5.21	3.46	0.39613	.	0.046252	0.85682	D	0.000000	T	0.23171	0.0560	L	0.40543	1.245	0.40632	D	0.981864	P	0.41978	0.767	B	0.43052	0.406	T	0.07404	-1.0774	10	0.02654	T	1	-3.1597	11.0745	0.48023	0.2469:0.0:0.7531:0.0	.	288	Q9NQZ2	SAS10_HUMAN	S	288	ENSP00000254803:R288S	ENSP00000254803:R288S	R	+	3	2	UTP3	71774122	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	1.438000	0.35002	1.327000	0.45338	0.655000	0.94253	AGG	UTP3	-	pfam_Sas10/Utp3/C1D	ENSG00000132467		0.433	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	HGNC	protein_coding	OTTHUMT00000252163.2	-	0	31	0	G	NM_020368		71555258	1	tier1	-	no_errors	ENST00000254803	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.995	C	C	71555258	G	C	71555258	3	2	25	1	0	0	0	0	1	0	0	0	17150	1165	41	5	866	5	UTP3	4	71555258	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	26863844	71555258	119599018	49	6389											
SEPT11	55752	genome.wustl.edu	37	chr4	77949786	77949786	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggattttcaatagtcttCaggagacatatgaagcaaaa	15	12	9	5	0	3	2	2	1	1	1	3	4	3	3	0	2	1	1	0	2	6	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr4:77949786C>T	ENST00000264893.6	+	8	1159	c.958C>T	c.(958-960)Cag>Tag	p.Q320*	SEPT11_ENST00000505788.1_Nonsense_Mutation_p.Q320*|SEPT11_ENST00000541121.1_Nonsense_Mutation_p.Q330*|SEPT11_ENST00000502584.1_Nonsense_Mutation_p.Q320*|SEPT11_ENST00000512575.1_3'UTR|SEPT11_ENST00000510515.1_Nonsense_Mutation_p.Q330*	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	320					cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						CAATAGTCTTCAGGAGACATA	0.338																																																	0													75	82	80					4																	77949786		2203	4300	6503	SO:0001587	stop_gained	0			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.958C>T	4.37:g.77949786C>T	ENSP00000264893:p.Gln320*		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Nonsense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.Q330*	ENST00000264893.6	37	c.988	CCDS34018.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.952113	0.98580	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	.	.	.	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	X	320;320;312;320;330;330	.	ENSP00000264893:Q320X	Q	+	1	0	SEPT11	78168810	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.380000	0.79704	2.873000	0.98535	0.561000	0.74099	CAG	SEPT11	-	pirsf_Septin	ENSG00000138758		0.338	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEPT11	HGNC	protein_coding	OTTHUMT00000362676.1	-	0	25	0	C	NM_018243		77949786	1	tier1	-	no_errors	ENST00000541121	ensembl	human	known	74_37	nonsense	18.75	26	6	SNP	1.000	T	T	77949786	C	T	77949786	4	4	25	1	0	0	0	0	0	1	0	0	14106	827	29	3	988	3	SEPT11	4	77949786	Nonsense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	6394528	77949786	113204490	50	6390											
FAT4	79633	genome.wustl.edu	37	chr4	126373683	126373683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcttccagtcatcatcGtggcaaatgaacctctgcag	11	10	9	11	1	4	2	2	1	2	1	6	2	5	2	2	1	2	2	2	1	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr4:126373683G>A	ENST00000394329.3	+	9	11525	c.11512G>A	c.(11512-11514)Gtg>Atg	p.V3838M	FAT4_ENST00000335110.5_Missense_Mutation_p.V2136M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3838	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCATCATCGTGGCAAATGA	0.483																																																	0													100	99	99					4																	126373683		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11512G>A	4.37:g.126373683G>A	ENSP00000377862:p.Val3838Met		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V3838M	ENST00000394329.3	37	c.11512	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426253	0.25726	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.78126	-0.96;-1.15	5.47	3.68	0.42216	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.232978	0.20986	U	0.082132	T	0.59972	0.2233	L	0.34521	1.04	0.54753	D	0.999981	B;P;B	0.39352	0.202;0.669;0.201	B;B;B	0.24701	0.055;0.032;0.038	T	0.54768	-0.8244	10	0.33141	T	0.24	.	9.3849	0.38336	0.3019:0.0:0.6981:0.0	.	2136;3838;3838	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	M	3838;2136	ENSP00000377862:V3838M;ENSP00000335169:V2136M	ENSP00000335169:V2136M	V	+	1	0	FAT4	126593133	0.999000	0.42202	0.106000	0.21319	0.675000	0.39556	2.897000	0.48664	0.617000	0.30160	0.561000	0.74099	GTG	FAT4	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000196159		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	49	0	G	NM_024582		126373683	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.957	A	A	126373683	G	A	126373683	3	1	25	1	0	0	0	0	1	0	0	0	5714	1145	40	1	11546	1	FAT4	4	126373683	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	48423897	126373683	64780593	51	6391											
ETFDH	2110	genome.wustl.edu	37	chr4	159605747	159605747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttcttttatttctaggctCcacttaacactcctgtaaca	9	17	3	12	0	3	0	0	0	3	0	5	0	5	0	2	1	2	2	2	1	4	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr4:159605747C>T	ENST00000511912.1	+	4	741	c.409C>T	c.(409-411)Cca>Tca	p.P137S	ETFDH_ENST00000307738.5_Missense_Mutation_p.P90S	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	137					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTCTAGGCTCCACTTAACAC	0.289																																																	0													71	74	73					4																	159605747		2202	4299	6501	SO:0001583	missense	0			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.409C>T	4.37:g.159605747C>T	ENSP00000426638:p.Pro137Ser		B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.P137S	ENST00000511912.1	37	c.409	CCDS3800.1	4	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853831	0.91355	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	D;D	0.95272	-3.66;-3.66	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.71870	0.967;0.967;0.975	D	0.98982	1.0805	10	0.87932	D	0	-10.1101	19.7498	0.96263	0.0:1.0:0.0:0.0	.	90;76;137	B4E3R9;B4DEQ0;Q16134	.;.;ETFD_HUMAN	S	137;90	ENSP00000426638:P137S;ENSP00000303552:P90S	ENSP00000303552:P90S	P	+	1	0	ETFDH	159825197	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.551000	0.82182	2.674000	0.91012	0.591000	0.81541	CCA	ETFDH	-	NULL	ENSG00000171503		0.289	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2		0	25	0	C			159605747	1			no_errors	ENST00000511912	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	T	T	159605747	C	T	159605747	3	4	25	1	0	0	0	0	1	0	0	0	5287	855	30	3	423	3	ETFDH	4	159605747	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	33232064	159605747	31548529	52	6392											
FNIP2	57600	genome.wustl.edu	37	chr4	159789786	159789786	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggctcttcaagacttccCagctgtgaagttttgggggc	7	12	13	9	0	2	2	1	1	1	1	3	3	3	2	1	3	1	3	1	3	2	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr4:159789786C>A	ENST00000264433.6	+	13	2073	c.1998C>A	c.(1996-1998)ccC>ccA	p.P666P	FNIP2_ENST00000379346.3_Silent_p.P689P	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	666	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CAAGACTTCCCAGCTGTGAAG	0.522																																																	0													32	37	35					4																	159789786		1940	4146	6086	SO:0001819	synonymous_variant	0			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1998C>A	4.37:g.159789786C>A			Q05DC3|Q96I31|Q9H994	Silent	SNP	NULL	p.P689	ENST00000264433.6	37	c.2067	CCDS47155.1	4																																																																																			FNIP2	-	NULL	ENSG00000052795		0.522	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	-	0	23	0	C	NM_020840		159789786	1	tier1	-	no_errors	ENST00000379346	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.000	A	A	159789786	C	A	159789786	2	1	25	1	0	0	0	0	0	0	0	1	5998	581	21	3		3	FNIP2	4	159789786	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	184039	159789786	31364490	53	6393											
DNAH5	1767	genome.wustl.edu	37	chr5	13776634	13776634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacttcaaagctctgtttCgaaatttctcccccactggc	9	12	7	13	1	3	0	1	0	2	0	5	2	3	1	2	2	2	2	2	2	3	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:13776634C>T	ENST00000265104.4	-	55	9391	c.9287G>A	c.(9286-9288)cGa>cAa	p.R3096Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3096	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCTGTTTCGAAATTTCTC	0.478									Kartagener syndrome																																								0													97	91	93					5																	13776634		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9287G>A	5.37:g.13776634C>T	ENSP00000265104:p.Arg3096Gln		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3096Q	ENST00000265104.4	37	c.9287	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.139959	0.97320	.	.	ENSG00000039139	ENST00000265104	T	0.56611	0.45	5.97	5.97	0.96955	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	M	0.92268	3.29	0.80722	D	1	D	0.67145	0.996	P	0.60789	0.879	T	0.82837	-0.0260	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	3096	Q8TE73	DYH5_HUMAN	Q	3096	ENSP00000265104:R3096Q	ENSP00000265104:R3096Q	R	-	2	0	DNAH5	13829634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.684000	0.84104	2.828000	0.97474	0.655000	0.94253	CGA	DNAH5	-	superfamily_P-loop_NTPase	ENSG00000039139		0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	43	0	C	NM_001369		13776634	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	T	T	13776634	C	T	13776634	3	4	25	1	0	0	0	0	1	0	0	0	4618	884	31	1	4687	1	DNAH5	5	13776634	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		13776634	167138626	54	6394											
HCN1	348980	genome.wustl.edu	37	chr5	45262430	45262430	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagctgccaggtgtctGtggctgcggggacggctgct	3	9	19	10	3	1	0	0	0	1	0	1	2	1	2	1	6	4	4	1	6	0	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:45262430G>A	ENST00000303230.4	-	8	2323	c.2266C>T	c.(2266-2268)Cag>Tag	p.Q756*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	756	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.Q756*(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCAGGTGTCTGTGGCTGCGGG	0.642																																																	1	Substitution - Nonsense(1)	prostate(1)											55	56	56					5																	45262430		2203	4300	6503	SO:0001587	stop_gained	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2266C>T	5.37:g.45262430G>A	ENSP00000307342:p.Gln756*			Nonsense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.Q756*	ENST00000303230.4	37	c.2266	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680081	0.68042	.	.	ENSG00000164588	ENST00000303230	.	.	.	4.4	3.51	0.40186	.	0.000000	0.46758	D	0.000273	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.3936	0.44188	0.0:0.1986:0.8014:0.0	.	.	.	.	X	756	.	ENSP00000307342:Q756X	Q	-	1	0	HCN1	45298187	1.000000	0.71417	0.898000	0.35279	0.360000	0.29518	6.319000	0.72871	1.180000	0.42898	0.655000	0.94253	CAG	HCN1	-	NULL	ENSG00000164588		0.642	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	45	0	G	NM_021072		45262430	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	nonsense	17.78	37	8	SNP	0.991	A	A	45262430	G	A	45262430	4	1	25	1	0	0	0	0	0	1	0	0	7023	1386	48	3	410	3	HCN1	5	45262430	Nonsense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	31485796	45262430	135652830	55	6395											
MIER3	166968	genome.wustl.edu	37	chr5	56233470	56233470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatggcgtcagatcatccGcagaagactgagtttcctcg	10	9	11	11	3	2	5	2	1	0	4	5	5	4	5	2	1	0	2	2	1	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:56233470G>T	ENST00000381199.3	-	5	381	c.371C>A	c.(370-372)gCg>gAg	p.A124E	MIER3_ENST00000381213.3_Missense_Mutation_p.A124E|MIER3_ENST00000409421.1_Missense_Mutation_p.A61E|MIER3_ENST00000381226.3_Missense_Mutation_p.A129E			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		CAGATCATCCGCAGAAGACTG	0.423																																																	0													123	110	115					5																	56233470		2203	4300	6503	SO:0001583	missense	0			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.371C>A	5.37:g.56233470G>T	ENSP00000370596:p.Ala124Glu		B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.A124E	ENST00000381199.3	37	c.371		5	.	.	.	.	.	.	.	.	.	.	G	35	5.505711	0.96371	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421;ENST00000336942	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.48736	-0.9009	10	0.17369	T	0.5	-9.9882	20.6593	0.99626	0.0:0.0:1.0:0.0	.	124;129;124	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	E	129;124;124;61;97	ENSP00000370624:A129E;ENSP00000370611:A124E;ENSP00000370596:A124E;ENSP00000386584:A61E;ENSP00000337027:A97E	ENSP00000337027:A97E	A	-	2	0	MIER3	56269227	1.000000	0.71417	0.860000	0.33809	0.966000	0.64601	9.837000	0.99465	2.885000	0.99019	0.655000	0.94253	GCG	MIER3	-	NULL	ENSG00000155545		0.423	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	HGNC	protein_coding	OTTHUMT00000132523.2		0	18	0	G	NM_152622		56233470	-1			no_errors	ENST00000381199	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	56233470	G	T	56233470	3	4	25	1	0	0	0	0	1	0	0	0	9620	1087	38	2	1314	2	MIER3	5	56233470	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	10971040	56233470	124681790	56	6396											
BHMT	635	genome.wustl.edu	37	chr5	78417107	78417107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagcatccggtaaacctgtgGcagcaaccatgtgcattggc	10	9	11	11	1	0	0	0	0	0	0	1	0	1	0	3	3	5	5	3	3	4	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:78417107G>A	ENST00000274353.5	+	5	651	c.544G>A	c.(544-546)Gca>Aca	p.A182T	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_5'UTR	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	182	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TAAACCTGTGGCAGCAACCAT	0.483																																																	0													138	125	129					5																	78417107		2203	4300	6503	SO:0001583	missense	0			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.544G>A	5.37:g.78417107G>A	ENSP00000274353:p.Ala182Thr		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.A182T	ENST00000274353.5	37	c.544	CCDS4046.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.304119	0.95601	.	.	ENSG00000145692	ENST00000274353	T	0.30182	1.54	5.33	5.33	0.75918	Homocysteine S-methyltransferase (4);	0.045354	0.85682	D	0.000000	T	0.54935	0.1889	M	0.84219	2.685	0.80722	D	1	D	0.54964	0.969	P	0.58577	0.841	T	0.52071	-0.8624	10	0.22109	T	0.4	-13.0655	19.3886	0.94570	0.0:0.0:1.0:0.0	.	182	Q93088	BHMT1_HUMAN	T	182	ENSP00000274353:A182T	ENSP00000274353:A182T	A	+	1	0	BHMT	78452863	1.000000	0.71417	0.557000	0.28306	0.794000	0.44872	9.444000	0.97578	2.642000	0.89623	0.655000	0.94253	GCA	BHMT	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000145692		0.483	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	-	0	45	0	G	NM_001713		78417107	1	tier1	-	no_errors	ENST00000274353	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	A	A	78417107	G	A	78417107	3	1	25	1	0	0	0	0	1	0	0	0	1427	1203	42	3	562	3	BHMT	5	78417107	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	22183637	78417107	102498153	57	6397											
RHOBTB3	22836	genome.wustl.edu	37	chr5	95128791	95128791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagttttgttgaaaagcaCagatggccgtcgaatatgta	12	11	11	7	3	0	2	0	1	0	1	1	3	0	2	1	1	1	5	1	1	5	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:95128791C>A	ENST00000379982.3	+	12	2257	c.1749C>A	c.(1747-1749)caC>caA	p.H583Q	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.H214Q|GLRX_ENST00000507605.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	583	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTGAAAAGCACAGATGGCCGT	0.368																																																	0													120	116	117					5																	95128791		2203	4300	6503	SO:0001583	missense	0			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"BTB/POZ domain containing"	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1749C>A	5.37:g.95128791C>A	ENSP00000369318:p.His583Gln		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.H583Q	ENST00000379982.3	37	c.1749	CCDS4077.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.88|15.88	2.963374|2.963374	0.53507|0.53507	.|.	.|.	ENSG00000164292|ENSG00000164292	ENST00000379982;ENST00000504179;ENST00000514198|ENST00000503737	T;T|.	0.74526|.	-0.18;-0.85|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.052094|.	0.85682|.	D|.	0.000000|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	D|D	1|1	P|.	0.38565|.	0.637|.	B|.	0.37198|.	0.243|.	T|T	0.55471|0.55471	-0.8136|-0.8136	10|5	0.44086|.	T|.	0.13|.	-25.7503|-25.7503	10.7764|10.7764	0.46353|0.46353	0.0:0.8596:0.0:0.1404|0.0:0.8596:0.0:0.1404	.|.	583|.	O94955|.	RHBT3_HUMAN|.	Q|K	583;214;29|86	ENSP00000369318:H583Q;ENSP00000422360:H214Q|.	ENSP00000369318:H583Q|.	H|Q	+|+	3|1	2|0	RHOBTB3|RHOBTB3	95154547|95154547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.191000|2.191000	0.42640|0.42640	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAC|CAG	RHOBTB3	-	NULL	ENSG00000164292		0.368	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	-	0	43	0	C	NM_014899		95128791	1	tier1	-	no_errors	ENST00000379982	ensembl	human	known	74_37	missense	35.42	31	17	SNP	1.000	A	A	95128791	C	A	95128791	3	1	25	1	0	0	0	0	1	0	0	0	13380	477	17	3	1795	3	RHOBTB3	5	95128791	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	16711684	95128791	85786469	58	6398											
TSSK1B	83942	genome.wustl.edu	37	chr5	112770525	112770525	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcgcttgaggacagcAgcgtcatccatggtgccagg	7	8	13	13	3	1	1	1	1	0	0	4	2	2	2	3	3	3	2	3	3	0	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:112770525A>G	ENST00000390666.3	-	1	203	c.12T>C	c.(10-12)gcT>gcC	p.A4A	CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000510381.2_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	4					multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGAGGACAGCAGCGTCATCCA	0.547																																																	0													40	43	42					5																	112770525		2130	4259	6389	SO:0001819	synonymous_variant	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.12T>C	5.37:g.112770525A>G			B2R8D9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A4	ENST00000390666.3	37	c.12	CCDS4112.1	5																																																																																			TSSK1B	-	NULL	ENSG00000212122		0.547	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2	-	0	20	0	A	NM_032028		112770525	-1	tier1	-	no_errors	ENST00000390666	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.994	G	G	112770525	A	G	112770525	2	3	25	1	0	0	0	0	0	0	0	1	16716	175	7	4		4	TSSK1B	5	112770525	Silent	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	17641734	112770525	68144735	59	6399											
SHROOM1	134549	genome.wustl.edu	37	chr5	132158683	132158683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgccagcagggcgcaataGacgcgcagctcctccaccgg	8	3	12	18	5	0	1	0	0	0	1	2	1	2	1	5	2	2	4	5	2	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:132158683G>A	ENST00000378679.3	-	10	3168	c.2364C>T	c.(2362-2364)gtC>gtT	p.V788V	SHROOM1_ENST00000378676.1_Silent_p.V719V|SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Silent_p.V783V	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	788	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCGCAATAGACGCGCAGCT	0.701																																																	0													34	31	32					5																	132158683		2200	4298	6498	SO:0001819	synonymous_variant	0			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2364C>T	5.37:g.132158683G>A			B7WP40|B7ZL01|Q8TDP0|Q8TF41	Silent	SNP	pfam_ASD2,pfam_ASD1	p.V788	ENST00000378679.3	37	c.2364	CCDS54902.1	5																																																																																			SHROOM1	-	pfam_ASD2	ENSG00000164403		0.701	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1		0	13	0	G	NM_133456		132158683	-1			no_errors	ENST00000378679	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.997	A	A	132158683	G	A	132158683	2	1	25	1	0	0	0	0	0	0	0	1	14338	929	33	3		3	SHROOM1	5	132158683	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	19388158	132158683	48756577	60	6400											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215259	140215259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttaccgcgcgggacgggGgctcgccttctctgtgggcc	2	9	17	13	5	1	0	0	0	1	0	3	1	1	1	3	5	1	2	3	5	1	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:140215259G>T	ENST00000525929.1	+	1	1291	c.1291G>T	c.(1291-1293)Ggc>Tgc	p.G431C	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G431C|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGACGGGGGCTCGCCTTC	0.627																																					NSCLC(160;258 2013 5070 22440 28951)												0													90	93	92					5																	140215259		2203	4300	6503	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1291G>T	5.37:g.140215259G>T	ENSP00000436426:p.Gly431Cys		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G431C	ENST00000525929.1	37	c.1291	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000267	0.54147	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.03524	3.9;3.9	4.04	4.04	0.47022	Cadherin (5);Cadherin-like (1);	0.000000	0.32002	U	0.006730	T	0.33118	0.0852	H	0.98682	4.3	0.47037	D	0.999298	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62358	-0.6871	10	0.87932	D	0	.	16.5697	0.84608	0.0:0.0:1.0:0.0	.	431;431	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	C	431	ENSP00000436426:G431C;ENSP00000367365:G431C	ENSP00000367365:G431C	G	+	1	0	PCDHA7	140195443	1.000000	0.71417	0.855000	0.33649	0.213000	0.24496	7.446000	0.80609	1.955000	0.56771	0.305000	0.20034	GGC	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204963		0.627	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	128	0	G	NM_018910		140215259	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	16.20	150	29	SNP	0.990	T	T	140215259	G	T	140215259	3	4	25	1	0	0	0	0	1	0	0	0	11568	1232	43	3	1293	3	PCDHA7	5	140215259	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	8056576	140215259	40700001	61	6401											
PCDHA9	9752	genome.wustl.edu	37	chr5	140228251	140228251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctggggctggagctggcGgagctggtgccgcgcctgtt	3	8	19	11	3	0	0	0	0	0	0	0	3	0	2	3	6	3	4	3	6	0	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:140228251G>A	ENST00000532602.1	+	1	1204	c.171G>A	c.(169-171)gcG>gcA	p.A57A	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.A57A	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.632																																					Melanoma(55;1800 1972 14909)												0													52	58	56					5																	140228251		2195	4260	6455	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.171G>A	5.37:g.140228251G>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A57	ENST00000532602.1	37	c.171	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.632	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	74	0	G	NM_031857		140228251	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	17.48	85	18	SNP	0.005	A	A	140228251	G	A	140228251	2	1	25	1	0	0	0	0	0	0	0	1	11570	1103	39	1		1	PCDHA9	5	140228251	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	12992	140228251	40687009	62	6402											
IL12B	3593	genome.wustl.edu	37	chr5	158749446	158749446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaaatcagtactgattgtCgtcagccaccagcaggtgaa	12	9	10	10	1	3	2	3	2	0	0	4	2	3	2	2	1	3	2	2	1	3	2	rs569226644		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:158749446C>T	ENST00000231228.2	-	4	893	c.438G>A	c.(436-438)acG>acA	p.T146T		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	146					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTGATTGTCGTCAGCCACC	0.383													C|||	1	0.000199681	0	0	5008	,	,		19944	0		0	False		,,,				2504	0.001																0													88	87	88					5																	158749446		2203	4300	6503	SO:0001819	synonymous_variant	0			M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5970	protein-coding gene	gene with protein product	"natural killer cell stimulatory factor-2", "cytotoxic lymphocyte maturation factor 2, p40", "interleukin 12, p40", "natural killer cell stimulatory factor, 40 kD subunit", "interleukin-12 beta chain", "IL12, subunit p40"	161561	"interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.438G>A	5.37:g.158749446C>T				Silent	SNP	pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T146	ENST00000231228.2	37	c.438	CCDS4346.1	5																																																																																			IL12B	-	pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3	ENSG00000113302		0.383	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12B	HGNC	protein_coding	OTTHUMT00000252652.2	-	0	28	0	C	NM_002187		158749446	-1	tier1	-	no_errors	ENST00000231228	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.000	T	T	158749446	C	T	158749446	2	4	25	1	0	0	0	0	0	0	0	1	7652	871	31	1		1	IL12B	5	158749446	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	18521195	158749446	22165814	63	6403											
FGFR4	2264	genome.wustl.edu	37	chr5	176524671	176524671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgggtctggggtgcaGacatgagcaaggctcaaggc	8	7	15	11	1	2	2	1	1	1	1	3	2	2	2	1	5	2	3	1	5	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:176524671G>T	ENST00000292408.4	+	18	2648	c.2403G>T	c.(2401-2403)caG>caT	p.Q801H	FGFR4_ENST00000292410.3_Missense_Mutation_p.Q761H|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q801H|FGFR4_ENST00000393648.2_Missense_Mutation_p.Q733H|FGFR4_ENST00000393637.1_Missense_Mutation_p.Q761H	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	801					alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CTGGGGTGCAGACATGAGCAA	0.627										TSP Lung(9;0.080)																																							0													76	63	67					5																	176524671		2203	4300	6503	SO:0001583	missense	0			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2403G>T	5.37:g.176524671G>T	ENSP00000292408:p.Gln801His		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q801H	ENST00000292408.4	37	c.2403	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902268	0.33628	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	T;T;T;T;T	0.78481	-1.18;-1.12;-1.18;-1.17;-1.17	4.34	2.49	0.30216	.	0.723557	0.10503	U	0.667071	T	0.56001	0.1956	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.46345	-0.9198	10	0.49607	T	0.09	.	4.512	0.11915	0.201:0.1861:0.6129:0.0	.	733;761;801	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	H	801;733;801;761;761;1029	ENSP00000292408:Q801H;ENSP00000377259:Q733H;ENSP00000424960:Q801H;ENSP00000292410:Q761H;ENSP00000377254:Q761H	ENSP00000292408:Q801H	Q	+	3	2	FGFR4	176457277	0.079000	0.21365	0.681000	0.30009	0.047000	0.14425	0.886000	0.28241	0.548000	0.28955	0.462000	0.41574	CAG	FGFR4	-	pirsf_FGF_rcpt_fam	ENSG00000160867		0.627	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1		0	28	0	G			176524671	1			no_errors	ENST00000292408	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.110	T	T	176524671	G	T	176524671	3	4	25	1	0	0	0	0	1	0	0	0	5890	933	33	3	2539	3	FGFR4	5	176524671	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	17775225	176524671	4390589	64	6404											
MAML1	9794	genome.wustl.edu	37	chr5	179192752	179192752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccagacctcaaccttaaCgagcaggagtggaaggagct	13	6	12	10	1	1	1	1	0	0	1	1	5	1	4	3	3	5	2	3	3	3	1	rs557255881		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr5:179192752C>G	ENST00000292599.3	+	2	1004	c.741C>G	c.(739-741)aaC>aaG	p.N247K	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAACCTTAACGAGCAGGAGT	0.532																																																	0													90	74	80					5																	179192752		2203	4300	6503	SO:0001583	missense	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.741C>G	5.37:g.179192752C>G	ENSP00000292599:p.Asn247Lys			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.N247K	ENST00000292599.3	37	c.741	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175834	0.57692	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.47869	0.83	4.9	-2.14	0.07123	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	M	0.77103	2.36	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.65475	-0.6159	10	0.72032	D	0.01	-20.1164	12.2773	0.54744	0.0:0.392:0.0:0.608	.	284;247	Q59GH4;Q92585	.;MAML1_HUMAN	K	247;284	ENSP00000292599:N247K	ENSP00000292599:N247K	N	+	3	2	MAML1	179125358	0.325000	0.24660	0.648000	0.29521	0.991000	0.79684	-0.372000	0.07504	-0.510000	0.06523	0.455000	0.32223	AAC	MAML1	-	NULL	ENSG00000161021		0.532	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2		0	27	0	C	NM_014757		179192752	1			no_errors	ENST00000292599	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.989	G	G	179192752	C	G	179192752	3	3	25	1	0	0	0	0	1	0	0	0	9243	535	19	5	747	5	MAML1	5	179192752	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	2668081	179192752	1722508	65	6405											
SLC17A4	10050	genome.wustl.edu	37	chr6	25769404	25769404	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaatgaaactctaaaaGaatttaaagcaatggtaagt	19	10	8	4	0	1	2	0	1	1	1	1	3	1	3	0	2	2	2	0	2	9	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:25769404G>T	ENST00000377905.4	+	3	402	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	SLC17A4_ENST00000397076.2_Nonsense_Mutation_p.E41*|SLC17A4_ENST00000439485.2_Nonsense_Mutation_p.E95*	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	95					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AACTCTAAAAGAATTTAAAGC	0.423																																																	0													53	59	57					6																	25769404		2203	4300	6503	SO:0001587	stop_gained	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.283G>T	6.37:g.25769404G>T	ENSP00000367137:p.Glu95*		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E95*	ENST00000377905.4	37	c.283	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402595	0.83230	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	.	.	.	4.39	2.62	0.31277	.	227.608000	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	6.8025	0.23758	0.2057:0.0:0.7943:0.0	.	.	.	.	X	95;95;41	.	ENSP00000367137:E95X	E	+	1	0	SLC17A4	25877383	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.746000	0.26275	0.796000	0.33947	0.655000	0.94253	GAA	SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.423	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1		0	18	0	G			25769404	1			no_errors	ENST00000377905	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	0.001	T	T	25769404	G	T	25769404	4	4	25	1	0	0	0	0	0	1	0	0	14464	943	33	3	289	3	SLC17A4	6	25769404	Nonsense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		25769404	145345663	66	6406											
BTN3A3	10384	genome.wustl.edu	37	chr6	26452498	26452498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagacaccactgaccccGggcttagctaatgaaagtgg	11	7	12	11	1	0	3	0	2	0	1	0	4	0	3	3	3	1	2	3	3	3	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:26452498G>A	ENST00000244519.2	+	11	1857	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	BTN3A3_ENST00000361232.3_Silent_p.P489P|BTN3A3_ENST00000339789.4_Silent_p.P496P	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	538					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CACTGACCCCGGGCTTAGCTA	0.552																																																	0													48	47	47					6																	26452498		2203	4300	6503	SO:0001819	synonymous_variant	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1614G>A	6.37:g.26452498G>A			B4DWI7|E9PCP5	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.P538	ENST00000244519.2	37	c.1614	CCDS4611.1	6																																																																																			BTN3A3	-	NULL	ENSG00000111801		0.552	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2	-	0	49	0	G	NM_006994		26452498	1	tier1	-	no_errors	ENST00000244519	ensembl	human	known	74_37	silent	24.36	59	19	SNP	0.002	A	A	26452498	G	A	26452498	2	1	25	1	0	0	0	0	0	0	0	1	1568	1103	39	1		1	BTN3A3	6	26452498	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	683094	26452498	144662569	67	6407											
SCUBE3	222663	genome.wustl.edu	37	chr6	35211789	35211789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggttcaagccctgtcaGccatgcccacgtggcaccta	8	8	11	14	1	2	0	2	0	0	0	2	1	2	0	4	2	3	2	4	2	2	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:35211789G>A	ENST00000274938.7	+	17	2121	c.2121G>A	c.(2119-2121)caG>caA	p.Q707Q	SCUBE3_ENST00000394681.1_Silent_p.Q723Q	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGCCCTGTCAGCCATGCCCAC	0.587																																																	0													142	114	123					6																	35211789		2203	4300	6503	SO:0001819	synonymous_variant	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2121G>A	6.37:g.35211789G>A				Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.Q723	ENST00000274938.7	37	c.2169	CCDS4800.1	6																																																																																			SCUBE3	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom	ENSG00000146197		0.587	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0	43	0	G	NM_152753		35211789	1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	silent	17.39	38	8	SNP	1.000	A	A	35211789	G	A	35211789	2	1	25	1	0	0	0	0	0	0	0	1	13991	962	34	3		3	SCUBE3	6	35211789	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	8759291	35211789	135903278	68	6408											
GSTA5	221357	genome.wustl.edu	37	chr6	52697688	52697688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagctggagataagactcGagtcaagctcttccacgtag	12	8	12	9	2	2	2	1	0	1	2	4	5	3	3	1	2	2	3	1	2	4	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:52697688G>A	ENST00000370989.2	-	5	544	c.515C>T	c.(514-516)tCg>tTg	p.S172L	GSTA5_ENST00000284562.2_Missense_Mutation_p.S172L|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	172	GST C-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	GATAAGACTCGAGTCAAGCTC	0.507																																																	0													137	124	128					6																	52697688		2203	4300	6503	SO:0001583	missense	0			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"Glutathione S-transferases / Soluble"	19662	protein-coding gene	gene with protein product		607605	"glutathione S-transferase A5"			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.515C>T	6.37:g.52697688G>A	ENSP00000360028:p.Ser172Leu		Q5SZC2	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.S172L	ENST00000370989.2	37	c.515	CCDS4946.1	6	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947737	0.34377	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.01821	4.62;4.62	2.66	2.66	0.31614	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.785407	0.11562	N	0.551667	T	0.00695	0.0023	L	0.33245	0.995	0.09310	N	1	P	0.34699	0.464	B	0.30316	0.114	T	0.48692	-0.9013	10	0.72032	D	0.01	.	9.7541	0.40494	0.0:0.2127:0.7873:0.0	.	172	Q7RTV2	GSTA5_HUMAN	L	172	ENSP00000360028:S172L;ENSP00000284562:S172L	ENSP00000284562:S172L	S	-	2	0	GSTA5	52805647	0.882000	0.30256	0.071000	0.20095	0.284000	0.27059	6.034000	0.70933	1.489000	0.48450	0.306000	0.20318	TCG	GSTA5	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000182793		0.507	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	-	0	70	0	G	NM_153699		52697688	-1	tier1	-	no_errors	ENST00000284562	ensembl	human	known	74_37	missense	52.63	36	40	SNP	0.004	A	A	52697688	G	A	52697688	3	1	25	1	0	0	0	0	1	0	0	0	6861	1059	37	1	161	1	GSTA5	6	52697688	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	17485899	52697688	118417379	69	6409											
C6orf192	116843	genome.wustl.edu	37	chr6	133108702	133108702	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaataaatactggcccatcTggaactcggtccaatacact	13	9	7	12	1	1	0	0	0	1	0	3	1	2	1	2	3	3	1	2	3	7	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:133108702T>C	ENST00000275227.4	-	5	468	c.372A>G	c.(370-372)ccA>ccG	p.P124P	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	124					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.P124P(1)									CTGGCCCATCTGGAACTCGGT	0.373																																																	1	Substitution - coding silent(1)	lung(1)											91	86	87					6																	133108702		2203	4300	6503	SO:0001819	synonymous_variant	0			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"Solute carriers"	21573	protein-coding gene	gene with protein product		613361	"chromosome 6 open reading frame 192"	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.372A>G	6.37:g.133108702T>C			A8K1K3|B3KW77|Q6ISF2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P124	ENST00000275227.4	37	c.372	CCDS5163.1	6																																																																																			SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146409		0.373	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1		0	26	0	T	NM_052831		133108702	-1			no_errors	ENST00000275227	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.209	C	C	133108702	T	C	133108702	2	2	25	1	0	0	0	0	0	0	0	1	2356	1567	55	4		4	C6orf192	6	133108702	Silent	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	80411014	133108702	38006365	70	6410											
FUCA2	2519	genome.wustl.edu	37	chr6	143828412	143828412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagacaatgtatttggcaCcagaggcctgaaaaatatct	15	11	8	7	0	1	3	0	1	1	2	1	3	1	3	2	2	0	2	2	2	6	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:143828412C>T	ENST00000002165.6	-	2	429	c.374G>A	c.(373-375)gGt>gAt	p.G125D	FUCA2_ENST00000438118.2_Missense_Mutation_p.G125D|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	125					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GTATTTGGCACCAGAGGCCTG	0.353																																																	0													75	82	79					6																	143828412		2203	4300	6503	SO:0001583	missense	0			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.374G>A	6.37:g.143828412C>T	ENSP00000002165:p.Gly125Asp		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.G125D	ENST00000002165.6	37	c.374	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000270	0.93227	.	.	ENSG00000001036	ENST00000002165;ENST00000438118;ENST00000367585	D;D;D	0.89196	-2.48;-2.48;-2.48	5.21	5.21	0.72293	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	H	0.98833	4.345	0.80722	D	1	D	0.69078	0.997	D	0.74023	0.982	D	0.98395	1.0565	10	0.87932	D	0	-17.8408	18.9402	0.92602	0.0:1.0:0.0:0.0	.	125	Q9BTY2	FUCO2_HUMAN	D	125	ENSP00000002165:G125D;ENSP00000394151:G125D;ENSP00000356557:G125D	ENSP00000002165:G125D	G	-	2	0	FUCA2	143870105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.698000	0.92095	0.655000	0.94253	GGT	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub	ENSG00000001036		0.353	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	-	0	45	0	C	NM_032020		143828412	-1	tier1	-	no_errors	ENST00000002165	ensembl	human	known	74_37	missense	20.29	54	14	SNP	1.000	T	T	143828412	C	T	143828412	3	4	25	1	0	0	0	0	1	0	0	0	6119	507	18	3	1053	3	FUCA2	6	143828412	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	10719710	143828412	27286655	71	6411											
STXBP5	134957	genome.wustl.edu	37	chr6	147527120	147527120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctagactgttcgccatgGatttccctatcaaccctcag	8	12	6	15	1	2	1	2	0	0	1	5	2	4	2	4	1	1	1	4	1	3	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:147527120G>T	ENST00000321680.6	+	2	164	c.164G>T	c.(163-165)gGa>gTa	p.G55V	STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367480.3_Missense_Mutation_p.G55V|STXBP5_ENST00000546097.1_Missense_Mutation_p.G55V|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000367481.3_Missense_Mutation_p.G55V|STXBP5_ENST00000179882.6_5'UTR	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	55					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTTCGCCATGGATTTCCCTAT	0.448																																																	0													174	157	162					6																	147527120		2203	4300	6503	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.164G>T	6.37:g.147527120G>T	ENSP00000321826:p.Gly55Val		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.G55V	ENST00000321680.6	37	c.164	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.256827	0.95336	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99253	1.0888	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	55;55	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	V	55	ENSP00000356451:G55V;ENSP00000441479:G55V;ENSP00000321826:G55V;ENSP00000356450:G55V	ENSP00000321826:G55V	G	+	2	0	STXBP5	147568813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.238000	0.95380	2.941000	0.99782	0.655000	0.94253	GGA	STXBP5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant	ENSG00000164506		0.448	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0	33	0	G			147527120	1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	147527120	G	T	147527120	3	4	25	1	0	0	0	0	1	0	0	0	15403	1174	41	3	170	3	STXBP5	6	147527120	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	3698708	147527120	23587947	72	6412											
ESR1	2099	genome.wustl.edu	37	chr6	152265629	152265629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcacatgatcaactgggCgaagagggtgccaggtaaga	12	7	15	7	1	2	3	2	1	0	2	2	4	2	3	1	4	2	2	1	4	3	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr6:152265629C>T	ENST00000206249.3	+	4	1444	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	ESR1_ENST00000406599.1_Intron|ESR1_ENST00000427531.2_Missense_Mutation_p.A188V|ESR1_ENST00000443427.1_Missense_Mutation_p.A361V|ESR1_ENST00000440973.1_Missense_Mutation_p.A361V|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000338799.5_Missense_Mutation_p.A361V	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	361	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	ATCAACTGGGCGAAGAGGGTG	0.478																																																	0													80	75	77					6																	152265629		2203	4300	6503	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1082C>T	6.37:g.152265629C>T	ENSP00000206249:p.Ala361Val		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A361V	ENST00000206249.3	37	c.1082	CCDS5234.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.340774|5.340774	0.95783|0.95783	.|.	.|.	ENSG00000091831|ENSG00000091831	ENST00000440973;ENST00000338799;ENST00000431219;ENST00000443427;ENST00000206249;ENST00000431590;ENST00000544394|ENST00000427531	D;D;D;D;T|.	0.97114|.	-4.25;-4.25;-4.25;-4.25;0.26|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87285|.	0.6139|.	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.995;1.0;1.0;1.0|.	D;D;P;D;D;D|.	0.85130|.	0.982;0.991;0.836;0.997;0.994;0.996|.	D|.	0.90641|.	0.4575|.	10|.	0.87932|.	D|.	0|.	.|.	19.7375|19.7375	0.96212|0.96212	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	265;142;103;360;361;361|.	B0QYW6;E7EVR3;Q9Y2W8;A8KAF4;G4XH65;P03372|.	.;.;.;.;.;ESR1_HUMAN|.	V|X	361;361;142;361;361;289;188|266	ENSP00000405330:A361V;ENSP00000342630:A361V;ENSP00000387500:A361V;ENSP00000206249:A361V;ENSP00000445454:A188V|.	ENSP00000206249:A361V|.	A|R	+|+	2|1	0|2	ESR1|ESR1	152307322|152307322	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	7.818000|7.818000	0.86416|0.86416	2.680000|2.680000	0.91292|0.91292	0.655000|0.655000	0.94253|0.94253	GCG|CGA	ESR1	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000091831		0.478	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1		0	14	0	C			152265629	1			no_errors	ENST00000206249	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	152265629	C	T	152265629	3	4	25	1	0	0	0	0	1	0	0	0	5272	768	27	1	1096	1	ESR1	6	152265629	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	4738509	152265629	18849438	73	6413											
SDK1	221935	genome.wustl.edu	37	chr7	4247736	4247736	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttcctaacagatttaCtactgggaggcagacagcca	11	10	10	10	0	0	2	0	0	0	2	1	3	1	3	2	2	5	3	2	2	3	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:4247736C>G	ENST00000404826.2	+	37	5359	c.5220C>G	c.(5218-5220)taC>taG	p.Y1740*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.Y1720*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1740	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACAGATTTACTACTGGGAGG	0.567																																																	0													66	68	67					7																	4247736		2203	4300	6503	SO:0001587	stop_gained	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5220C>G	7.37:g.4247736C>G	ENSP00000385899:p.Tyr1740*		Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y1740*	ENST00000404826.2	37	c.5220	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	45	11.868869	0.99612	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	4.77	1.34	0.21922	.	0.095877	0.43579	D	0.000546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8038	0.18428	0.0:0.3443:0.0:0.6557	.	.	.	.	X	1740;1720	.	ENSP00000374182:Y1720X	Y	+	3	2	SDK1	4214262	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.131000	0.31406	0.499000	0.27970	0.655000	0.94253	TAC	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.567	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	40	0	C	NM_152744		4247736	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	nonsense	12.50	90	13	SNP	1.000	G	G	4247736	C	G	4247736	4	3	25	1	0	0	0	0	0	1	0	0	14013	576	20	5	5366	5	SDK1	7	4247736	Nonsense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		4247736	154890927	74	6414											
TNRC18	84629	genome.wustl.edu	37	chr7	5391652	5391652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacaggagggaaggcgtCagtttggagctggaggggcc	9	6	18	8	1	1	0	1	0	0	0	1	4	1	4	1	7	2	2	1	7	2	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:5391652C>T	ENST00000430969.1	-	17	5616	c.5268G>A	c.(5266-5268)ctG>ctA	p.L1756L	TNRC18_ENST00000399537.4_Silent_p.L1756L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1756							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGGAAGGCGTCAGTTTGGAGC	0.577																																																	0													36	34	35					7																	5391652		1568	3582	5150	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.5268G>A	7.37:g.5391652C>T			A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.L1756	ENST00000430969.1	37	c.5268	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.577	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding			0	16	0	C			5391652	-1			no_errors	ENST00000399537	ensembl	human	known	74_37	silent	9.09	20	2	SNP	0.054	T	T	5391652	C	T	5391652	2	4	25	1	0	0	0	0	0	0	0	1	16386	813	29	3		3	TNRC18	7	5391652	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	1143916	5391652	153747011	75	6415											
NXPH1	30010	genome.wustl.edu	37	chr7	8791241	8791241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttcaaaaacctgttacCaggagcaaacccaaagtcat	16	7	5	13	0	2	0	2	0	0	0	2	1	2	1	4	1	4	2	4	1	5	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:8791241C>A	ENST00000405863.1	+	3	1569	c.658C>A	c.(658-660)Cag>Aag	p.Q220K	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.Q103K	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	220	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AACCTGTTACCAGGAGCAAAC	0.388																																																	0													47	44	45					7																	8791241		1887	4117	6004	SO:0001583	missense	0			AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.658C>A	7.37:g.8791241C>A	ENSP00000384551:p.Gln220Lys		Q8NB31	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.Q220K	ENST00000405863.1	37	c.658	CCDS47540.1	7	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580338	0.65992	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78059	0.4224	M	0.72479	2.2	0.80722	D	1	D	0.60160	0.987	D	0.65140	0.932	T	0.76127	-0.3073	9	0.44086	T	0.13	-11.2311	19.6556	0.95837	0.0:1.0:0.0:0.0	.	220	P58417	NXPH1_HUMAN	K	220;103	.	ENSP00000384551:Q220K	Q	+	1	0	NXPH1	8757766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.625000	0.83145	2.882000	0.98803	0.655000	0.94253	CAG	NXPH1	-	pfam_NXPH/NXPE,pirsf_Neurexophilin	ENSG00000122584		0.388	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH1	HGNC	protein_coding	OTTHUMT00000324591.1	-	0	34	0	C	NM_152745		8791241	1	tier1	-	no_errors	ENST00000405863	ensembl	human	known	74_37	missense	16.67	45	9	SNP	1.000	A	A	8791241	C	A	8791241	3	1	25	1	0	0	0	0	1	0	0	0	10829	595	21	3	664	3	NXPH1	7	8791241	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3399589	8791241	150347422	76	6416											
TMEM195	392636	genome.wustl.edu	37	chr7	15427133	15427133	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaatccaggtgtggcccaGaatgtagtccatatggaaaa	15	8	11	7	0	0	2	0	0	0	2	2	3	2	3	3	3	0	1	3	3	7	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:15427133G>A	ENST00000342526.3	-	9	1024	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	285					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						GTGTGGCCCAGAATGTAGTCC	0.358																																																	0													73	79	77					7																	15427133		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"Fatty acid hydroxylase domain containing"	33784	protein-coding gene	gene with protein product		613738	"transmembrane protein 195"	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.855C>T	7.37:g.15427133G>A			A4D114|A6NCH5	Silent	SNP	pfam_Fatty_acid_hydroxylase	p.F285	ENST00000342526.3	37	c.855	CCDS34604.1	7																																																																																			AGMO	-	NULL	ENSG00000187546		0.358	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGMO	HGNC	protein_coding	OTTHUMT00000326049.2	-	0	49	0	G	NM_001004320		15427133	-1	tier1	-	no_errors	ENST00000342526	ensembl	human	known	74_37	silent	15.00	68	12	SNP	1.000	A	A	15427133	G	A	15427133	2	1	25	1	0	0	0	0	0	0	0	1	16164	933	33	3		3	TMEM195	7	15427133	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	6635892	15427133	143711530	77	6417											
TWISTNB	221830	genome.wustl.edu	37	chr7	19748503	19748503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggcccggccaccaggcatGagtagcgactgttcaccagc	8	5	13	15	3	1	1	1	1	0	0	1	2	1	1	4	3	2	3	4	3	1	2	rs527876640		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:19748503G>A	ENST00000222567.5	-	1	207	c.137C>T	c.(136-138)tCa>tTa	p.S46L		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	46					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CACCAGGCATGAGTAGCGACT	0.622											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	48	51					7																	19748503		2203	4300	6503	SO:0001583	missense	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.137C>T	7.37:g.19748503G>A	ENSP00000222567:p.Ser46Leu	735	A0PJ45|B7Z724	Missense_Mutation	SNP	pfam_RNA_pol_Rpb7_N	p.S46L	ENST00000222567.5	37	c.137	CCDS34606.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293642	0.80914	.	.	ENSG00000105849	ENST00000222567	.	.	.	4.06	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.65322	0.2680	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.68477	-0.5398	9	0.87932	D	0	-9.5442	12.3634	0.55215	0.0866:0.0:0.9134:0.0	.	46	Q3B726	RPA43_HUMAN	L	46	.	ENSP00000222567:S46L	S	-	2	0	TWISTNB	19715028	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	6.426000	0.73374	2.246000	0.74042	0.655000	0.94253	TCA	TWISTNB	-	NULL	ENSG00000105849		0.622	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1	-	0	40	0	G			19748503	-1	tier1	-	no_errors	ENST00000222567	ensembl	human	known	74_37	missense	18.75	52	12	SNP	1.000	A	A	19748503	G	A	19748503	3	1	25	1	0	0	0	0	1	0	0	0	16833	1294	45	3	895	3	TWISTNB	7	19748503	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	4321370	19748503	139390160	78	6418											
PCLO	27445	genome.wustl.edu	37	chr7	82579600	82579600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactatctttttaaaacttCggggatcatctgtcatattt	10	17	5	9	1	4	0	2	0	2	0	5	1	4	1	1	2	1	0	1	2	4	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:82579600C>T	ENST00000333891.9	-	6	10641	c.10304G>A	c.(10303-10305)cGa>cAa	p.R3435Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R3435Q|PCLO_ENST00000437081.1_Missense_Mutation_p.R155Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTAAAACTTCGGGGATCATC	0.423																																																	0													122	112	115					7																	82579600		1895	4125	6020	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10304G>A	7.37:g.82579600C>T	ENSP00000334319:p.Arg3435Gln			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R3435Q	ENST00000333891.9	37	c.10304	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	7.128	0.579263	0.13686	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.34859	2.35;2.35;1.34	5.95	5.08	0.68730	.	.	.	.	.	T	0.37758	0.1015	L	0.59436	1.845	0.09310	N	1	P;D;D	0.56521	0.897;0.976;0.976	B;B;B	0.42422	0.162;0.387;0.387	T	0.35847	-0.9772	9	0.87932	D	0	.	12.17	0.54152	0.0:0.8634:0.0:0.1366	.	3366;3435;3435	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3366;3435;3435;155	ENSP00000334319:R3435Q;ENSP00000388393:R3435Q;ENSP00000393760:R155Q	ENSP00000334319:R3435Q	R	-	2	0	PCLO	82417536	0.591000	0.26824	0.306000	0.25113	0.745000	0.42441	3.092000	0.50207	1.537000	0.49254	0.655000	0.94253	CGA	PCLO	-	NULL	ENSG00000186472		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	74	0	C	NM_014510		82579600	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.46	85	11	SNP	0.069	T	T	82579600	C	T	82579600	3	4	25	1	0	0	0	0	1	0	0	0	11622	884	31	1	5221	1	PCLO	7	82579600	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	62831097	82579600	76559063	79	6419											
STEAP2	261729	genome.wustl.edu	37	chr7	89859299	89859299	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctcctggcagtcacttcTatcccttcagtgagcaatgc	7	12	7	15	0	3	1	2	1	1	0	6	1	6	1	3	1	2	2	3	1	2	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:89859299T>C	ENST00000287908.3	+	4	1527	c.1134T>C	c.(1132-1134)tcT>tcC	p.S378S	STEAP2_ENST00000402625.2_Silent_p.S378S|STEAP2_ENST00000394629.2_Silent_p.S378S|STEAP2_ENST00000394621.2_Silent_p.S378S|STEAP2_ENST00000394622.2_Silent_p.S378S|STEAP2_ENST00000394632.1_Silent_p.S378S|STEAP2_ENST00000394626.1_Silent_p.S378S	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	378	Ferric oxidoreductase.				copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAGTCACTTCTATCCCTTCAG	0.403																																																	0													198	201	200					7																	89859299		2203	4300	6503	SO:0001819	synonymous_variant	0			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.1134T>C	7.37:g.89859299T>C			A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	pfam_Fe3_Rdtase_TM_dom	p.S378	ENST00000287908.3	37	c.1134	CCDS5615.1	7																																																																																			STEAP2	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000157214		0.403	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	HGNC	protein_coding	OTTHUMT00000059662.4	-	0	57	0	T	NM_152999		89859299	1	tier1	-	no_errors	ENST00000287908	ensembl	human	known	74_37	silent	56.25	35	45	SNP	0.171	C	C	89859299	T	C	89859299	2	2	25	1	0	0	0	0	0	0	0	1	15325	1509	53	4		4	STEAP2	7	89859299	Silent	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	7279699	89859299	69279364	80	6420											
TFR2	7036	genome.wustl.edu	37	chr7	100238796	100238796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaggtgccctttcCgggggccttccacacgctgg	3	9	11	18	2	0	0	0	0	0	0	4	0	4	0	7	4	1	1	7	4	0	2	rs80338877		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:100238796C>T	ENST00000462107.1	-	3	376	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	TFR2_ENST00000431692.1_Missense_Mutation_p.R30Q|TFR2_ENST00000223051.3_Missense_Mutation_p.R30Q			Q9UP52	TFR2_HUMAN	transferrin receptor 2	30					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GTGCCCTTTCCGGGGGCCTTC	0.657																																																	0			GRCh37	CI011895	TFR2	I	rs80338877						10	11	11					7																	100238796		2188	4282	6470	SO:0001583	missense	0			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.89G>A	7.37:g.100238796C>T	ENSP00000420525:p.Arg30Gln		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.R30Q	ENST00000462107.1	37	c.89	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.386978	0.01194	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.51325	0.71;0.73;0.71	4.44	-6.04	0.02178	.	1.668120	0.03597	N	0.232710	T	0.19765	0.0475	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.10222	-1.0639	10	0.12766	T	0.61	-0.0168	2.057	0.03583	0.1364:0.1768:0.4186:0.2682	.	30	Q9UP52	TFR2_HUMAN	Q	30	ENSP00000223051:R30Q;ENSP00000413905:R30Q;ENSP00000420525:R30Q	ENSP00000223051:R30Q	R	-	2	0	TFR2	100076732	0.001000	0.12720	0.001000	0.08648	0.024000	0.10985	-0.201000	0.09464	-1.151000	0.02836	-1.610000	0.00802	CGG	TFR2	-	NULL	ENSG00000106327		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	-	0	27	0	C	NM_003227		100238796	-1	tier1	-	no_errors	ENST00000223051	ensembl	human	known	74_37	missense	9.84	55	6	SNP	0.000	T	T	100238796	C	T	100238796	3	4	25	1	0	0	0	0	1	0	0	0	15858	652	23	1	2384	1	TFR2	7	100238796	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	10379497	100238796	58899867	81	6421											
RELN	5649	genome.wustl.edu	37	chr7	103136182	103136182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttactttaaactgcatCatgtatcctggctgtataat	10	17	5	9	0	1	0	1	0	0	0	3	0	3	0	2	1	3	4	2	1	6	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr7:103136182C>G	ENST00000428762.1	-	57	9516	c.9357G>C	c.(9355-9357)atG>atC	p.M3119I	RELN_ENST00000343529.5_Missense_Mutation_p.M3119I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.M3119I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3119					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAAACTGCATCATGTATCCTG	0.418																																					NSCLC(146;835 1944 15585 22231 52158)												0													179	165	170					7																	103136182		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9357G>C	7.37:g.103136182C>G	ENSP00000392423:p.Met3119Ile		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.M3119I	ENST00000428762.1	37	c.9357	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626404	0.46840	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.23147	1.92;1.92;1.92	6.16	6.16	0.99307	Neuraminidase (2);	0.041485	0.85682	D	0.000000	T	0.33381	0.0861	N	0.12182	0.205	0.47276	D	0.99937	B;P	0.49185	0.036;0.92	B;P	0.59221	0.016;0.854	T	0.09335	-1.0679	10	0.45353	T	0.12	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	3119;3119	P78509-2;P78509	.;RELN_HUMAN	I	3119;3119;3119;636;3119	ENSP00000392423:M3119I;ENSP00000345694:M3119I;ENSP00000388446:M3119I	ENSP00000345694:M3119I	M	-	3	0	RELN	102923418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.796000	0.55507	2.937000	0.99478	0.650000	0.86243	ATG	RELN	-	superfamily_Sialidases	ENSG00000189056		0.418	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	96	0	C	NM_005045		103136182	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	7.75	250	21	SNP	1.000	G	G	103136182	C	G	103136182	3	3	25	1	0	0	0	0	1	0	0	0	13265	826	29	5	1061	5	RELN	7	103136182	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	2897386	103136182	56002481	82	6422											
MCPH1	79648	genome.wustl.edu	37	chr8	6302198	6302198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgaccaaaagcaggctGcaggtatgtctcaggagacg	11	6	12	12	1	1	2	1	1	1	1	2	3	1	2	3	3	2	4	3	3	3	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:6302198G>T	ENST00000344683.5	+	8	1031	c.955G>T	c.(955-957)Gca>Tca	p.A319S	MCPH1_ENST00000522905.1_Missense_Mutation_p.A271S|MCPH1_ENST00000519480.1_Missense_Mutation_p.A319S	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	319					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAAGCAGGCTGCAGGTATGTC	0.403																																					Colon(95;1448 1467 8277 34473 35819)												0													57	52	54					8																	6302198		1881	4112	5993	SO:0001583	missense	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.955G>T	8.37:g.6302198G>T	ENSP00000342924:p.Ala319Ser		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.A319S	ENST00000344683.5	37	c.955	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426207	0.25726	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.10192	2.9;2.9;2.9	5.36	1.47	0.22746	.	0.835632	0.11222	N	0.586552	T	0.12347	0.0300	L	0.56769	1.78	0.09310	N	1	P;B;P	0.38280	0.625;0.387;0.625	B;B;B	0.39771	0.266;0.309;0.266	T	0.26677	-1.0096	10	0.21014	T	0.42	-0.4712	8.8394	0.35133	0.0813:0.4382:0.4805:0.0	.	271;319;319	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	S	319;319;271	ENSP00000342924:A319S;ENSP00000430962:A319S;ENSP00000430768:A271S	ENSP00000342924:A319S	A	+	1	0	MCPH1	6289606	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.030000	0.12308	0.042000	0.15717	0.655000	0.94253	GCA	MCPH1	-	pfam_Microcephalin	ENSG00000147316		0.403	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2		0	17	0	G	NM_024596		6302198	1			no_errors	ENST00000344683	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.000	T	T	6302198	G	T	6302198	3	4	25	1	0	0	0	0	1	0	0	0	9436	1319	46	3	985	3	MCPH1	8	6302198	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		6302198	140061824	83	6423											
C8orf80	389643	genome.wustl.edu	37	chr8	27898648	27898648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggctgctccatgcaggCgaagcactgtgcgatggcct	8	7	14	12	2	0	1	0	0	0	1	1	3	1	1	2	3	4	4	2	3	1	0	rs373371560		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:27898648C>T	ENST00000413272.2	-	13	1673	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	NUGGC_ENST00000341513.6_Missense_Mutation_p.A511T	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	511					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A511T(2)									TCCATGCAGGCGAAGCACTGT	0.567																																																	2	Substitution - Missense(2)	lung(2)						C	THR/ALA	0,4180		0,0,2090	46	49	48		1531	2.8	0.8	8		48	1,8425		0,1,4212	no	missense	C8orf80	NM_001010906.1	58	0,1,6302	TT,TC,CC		0.0119,0.0,0.0079	benign	511/797	27898648	1,12605	2090	4213	6303	SO:0001583	missense	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1531G>A	8.37:g.27898648C>T	ENSP00000408697:p.Ala511Thr		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.A511T	ENST00000413272.2	37	c.1531	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	5.700	0.313616	0.10789	0.0	1.19E-4	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.42131	0.98;0.98	5.65	2.78	0.32641	.	0.734765	0.13207	N	0.405455	T	0.24586	0.0596	N	0.24115	0.695	0.32186	N	0.579771	B	0.14438	0.01	B	0.08055	0.003	T	0.28396	-1.0045	10	0.15952	T	0.53	-7.8089	6.7652	0.23562	0.3111:0.6065:0.0:0.0824	.	511	Q68CJ6	SLIP_HUMAN	T	511	ENSP00000408697:A511T;ENSP00000345031:A511T	ENSP00000345031:A511T	A	-	1	0	C8orf80	27954567	0.806000	0.28996	0.849000	0.33467	0.006000	0.05464	0.052000	0.14163	0.727000	0.32360	-0.142000	0.14014	GCC	NUGGC	-	NULL	ENSG00000189233		0.567	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1		0	34	0	C	NM_001010906		27898648	-1			no_errors	ENST00000341513	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.911	T	T	27898648	C	T	27898648	3	4	25	1	0	0	0	0	1	0	0	0	2446	768	27	1	887	1	C8orf80	8	27898648	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	21596450	27898648	118465374	84	6424											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37730432	37730432	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caactctgccttagggagcaAgggtggtccttcagacttgg	8	10	13	10	0	2	1	1	0	1	1	3	2	3	2	2	4	3	1	2	4	3	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:37730432A>T	ENST00000330843.4	-	4	1900	c.1888T>A	c.(1888-1890)Ttg>Atg	p.L630M	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	630					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTAGGGAGCAAGGGTGGTCCT	0.517																																																	0													112	105	107					8																	37730432		2203	4300	6503	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1888T>A	8.37:g.37730432A>T	ENSP00000331342:p.Leu630Met		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L630M	ENST00000330843.4	37	c.1888	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998851	0.54147	.	.	ENSG00000156675	ENST00000330843	T	0.17854	2.25	5.49	-11.0	0.00169	.	1.902110	0.02696	N	0.111253	T	0.08133	0.0203	N	0.24115	0.695	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.20605	-1.0270	10	0.48119	T	0.1	3.1235	1.4705	0.02414	0.4861:0.172:0.1713:0.1706	.	630	Q6WKZ4	RFIP1_HUMAN	M	630	ENSP00000331342:L630M	ENSP00000331342:L630M	L	-	1	2	RAB11FIP1	37849590	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.478000	0.06575	-2.144000	0.00802	-0.242000	0.12053	TTG	RAB11FIP1	-	NULL	ENSG00000156675		0.517	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0	23	0	A	NM_025151		37730432	-1	tier1	-	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	38.75	49	31	SNP	0.000	T	T	37730432	A	T	37730432	3	4	25	1	0	0	0	0	1	0	0	0	12938	69	3	5	1975	5	RAB11FIP1	8	37730432	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	9831784	37730432	108633590	85	6425											
NPBWR1	2831	genome.wustl.edu	37	chr8	53852501	53852501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctcggagccctggcccGccaacgcatcgggcccggac	5	5	13	18	6	1	0	0	0	1	0	3	2	1	2	4	4	2	2	4	4	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:53852501G>A	ENST00000331251.3	+	1	1511	c.34G>A	c.(34-36)Gcc>Acc	p.A12T		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	12					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCCTGGCCCGCCAACGCATC	0.716																																																	0													8	10	9					8																	53852501		2162	4238	6400	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.34G>A	8.37:g.53852501G>A	ENSP00000330284:p.Ala12Thr		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.A12T	ENST00000331251.3	37	c.34	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694991	0.30052	.	.	ENSG00000183729	ENST00000331251	T	0.36878	1.23	3.97	-2.64	0.06114	.	2.488560	0.02297	N	0.070855	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06110	-1.0845	10	0.19590	T	0.45	.	0.4992	0.00576	0.264:0.2443:0.2901:0.2016	.	12	P48145	NPBW1_HUMAN	T	12	ENSP00000330284:A12T	ENSP00000330284:A12T	A	+	1	0	NPBWR1	54015054	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.878000	0.04192	-0.563000	0.06078	-0.145000	0.13849	GCC	NPBWR1	-	NULL	ENSG00000183729		0.716	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1		0	29	0	G	NM_005285		53852501	1			no_errors	ENST00000331251	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.000	A	A	53852501	G	A	53852501	3	1	25	1	0	0	0	0	1	0	0	0	10607	1087	38	1	36	1	NPBWR1	8	53852501	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	16122069	53852501	92511521	86	6426											
FABP4	2167	genome.wustl.edu	37	chr8	82391122	82391122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctctcataaactctcGtggaagtgacgcctttcatg	9	13	8	11	2	4	1	2	1	2	0	6	2	4	2	1	1	2	1	1	1	3	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:82391122G>A	ENST00000256104.4	-	4	472	c.377C>T	c.(376-378)aCg>aTg	p.T126M	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	126					brown fat cell differentiation (GO:0050873)|cellular response to lithium ion (GO:0071285)|cholesterol homeostasis (GO:0042632)|cytokine production (GO:0001816)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of inflammatory response (GO:0050729)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|nucleus (GO:0005634)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			ATAAACTCTCGTGGAAGTGAC	0.388																																					NSCLC(35;550 1252 19644 48360)												0													180	149	160					8																	82391122		2203	4300	6503	SO:0001583	missense	0			J02874	CCDS6230.1	8q21.13	2013-03-01			ENSG00000170323	ENSG00000170323		"Fatty acid binding protein family"	3559	protein-coding gene	gene with protein product		600434				2481498	Standard	NM_001442		Approved	A-FABP, aP2	uc003ycd.2	P15090	OTTHUMG00000164602	ENST00000256104.4:c.377C>T	8.37:g.82391122G>A	ENSP00000256104:p.Thr126Met		Q6IBA1	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.T126M	ENST00000256104.4	37	c.377	CCDS6230.1	8	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551307	0.27739	.	.	ENSG00000170323	ENST00000256104	T	0.08807	3.05	4.93	3.16	0.36331	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.441048	0.25205	N	0.032351	T	0.21062	0.0507	M	0.85859	2.78	0.21473	N	0.999674	D	0.55385	0.971	P	0.54815	0.761	T	0.08126	-1.0737	10	0.87932	D	0	.	6.2114	0.20631	0.1613:0.0:0.6902:0.1486	.	126	P15090	FABP4_HUMAN	M	126	ENSP00000256104:T126M	ENSP00000256104:T126M	T	-	2	0	FABP4	82553677	0.903000	0.30736	0.623000	0.29173	0.014000	0.08584	1.140000	0.31516	0.805000	0.34159	-0.126000	0.14955	ACG	FABP4	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	ENSG00000170323		0.388	FABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP4	HGNC	protein_coding	OTTHUMT00000379368.1	-	0	37	0	G	NM_001442		82391122	-1	tier1	-	no_errors	ENST00000256104	ensembl	human	known	74_37	missense	20.41	38	10	SNP	0.382	A	A	82391122	G	A	82391122	3	1	25	1	0	0	0	0	1	0	0	0	5378	1145	40	1	25	1	FABP4	8	82391122	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	28538621	82391122	63972900	87	6427											
FABP12	646486	genome.wustl.edu	37	chr8	82439330	82439330	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtcctgaacttgaatcagGgactccttatctaaggttac	11	12	8	10	0	2	2	1	2	1	0	4	3	4	3	2	2	2	1	2	2	5	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:82439330G>T	ENST00000360464.4	-	3	335	c.273C>A	c.(271-273)tcC>tcA	p.S91S	RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	91							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						CTTGAATCAGGGACTCCTTAT	0.393																																																	0													91	81	84					8																	82439330		1877	4120	5997	SO:0001819	synonymous_variant	0				CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"Fatty acid binding protein family"	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.273C>A	8.37:g.82439330G>T			B7SUN0	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.S91	ENST00000360464.4	37	c.273	CCDS47882.1	8																																																																																			FABP12	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000197416		0.393	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FABP12	HGNC	protein_coding	OTTHUMT00000379720.1		0	25	0	G	NM_001105281		82439330	-1			no_errors	ENST00000360464	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.108	T	T	82439330	G	T	82439330	2	4	25	1	0	0	0	0	0	0	0	1	5375	1219	43	3		3	FABP12	8	82439330	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	48208	82439330	63924692	88	6428											
CNBD1	168975	genome.wustl.edu	37	chr8	88297028	88297028	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcccagcaaagggataTgcaaagataaaggaggtaag	20	5	11	5	0	0	1	0	0	0	1	1	3	1	3	1	3	2	3	1	3	8	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:88297028T>C	ENST00000518476.1	+	7	945	c.894T>C	c.(892-894)taT>taC	p.Y298Y		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	298										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CAAAGGGATATGCAAAGATAA	0.358																																																	0													45	42	43					8																	88297028		1829	4070	5899	SO:0001819	synonymous_variant	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.894T>C	8.37:g.88297028T>C				Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Y298	ENST00000518476.1	37	c.894	CCDS55259.1	8																																																																																			CNBD1	-	superfamily_cNMP-bd-like	ENSG00000176571		0.358	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	-	0	36	0	T	NM_173538		88297028	1	tier1	-	no_errors	ENST00000518476	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.001	C	C	88297028	T	C	88297028	2	2	25	1	0	0	0	0	0	0	0	1	3598	1471	51	4		4	CNBD1	8	88297028	Silent	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	5857698	88297028	58066994	89	6429											
MATN2	4147	genome.wustl.edu	37	chr8	98973737	98973737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtggctacgccctggctGaggatgggaagaggtgtgtg	8	8	18	7	1	0	2	0	1	0	1	0	4	0	4	1	5	1	2	1	5	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:98973737G>C	ENST00000520016.1	+	4	1061	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	MATN2_ENST00000254898.5_Missense_Mutation_p.E313Q|MATN2_ENST00000524308.1_Missense_Mutation_p.E313Q|MATN2_ENST00000522025.2_Missense_Mutation_p.E29Q|MATN2_ENST00000521689.1_Missense_Mutation_p.E313Q			O00339	MATN2_HUMAN	matrilin 2	313	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CGCCCTGGCTGAGGATGGGAA	0.582																																																	0													91	94	93					8																	98973737		2057	4205	6262	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.937G>C	8.37:g.98973737G>C	ENSP00000430487:p.Glu313Gln		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.E313Q	ENST00000520016.1	37	c.937	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.76|11.76	1.733671|1.733671	0.30684|0.30684	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016;ENST00000519585;ENST00000522270|ENST00000521041	D;D;D;D;D;D;T|.	0.85556|.	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0;1.54|.	4.67|4.67	3.76|3.76	0.43208|0.43208	Epidermal growth factor-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);|.	0.223966|.	0.31156|.	N|.	0.008144|.	T|.	0.35364|.	0.0929|.	L|L	0.31476|0.31476	0.935|0.935	0.27493|0.27493	N|N	0.952215|0.952215	B;P;B|.	0.35107|.	0.429;0.484;0.008|.	B;B;B|.	0.43701|.	0.303;0.428;0.01|.	T|.	0.21008|.	-1.0258|.	10|.	0.22706|.	T|.	0.39|.	-11.3038|-11.3038	10.5752|10.5752	0.45223|0.45223	0.0:0.1957:0.8043:0.0|0.0:0.1957:0.8043:0.0	.|.	313;313;313|.	O00339-2;O00339;Q8N2G3|.	.;MATN2_HUMAN;.|.	Q|S	313;313;313;313;29;313;29;10|67	ENSP00000429977:E313Q;ENSP00000254898:E313Q;ENSP00000430221:E313Q;ENSP00000429010:E29Q;ENSP00000430487:E313Q;ENSP00000429042:E29Q;ENSP00000429825:E10Q|.	ENSP00000254898:E313Q|.	E|X	+|+	1|2	0|2	MATN2|MATN2	99042913|99042913	0.979000|0.979000	0.34478|0.34478	0.772000|0.772000	0.31596|0.31596	0.935000|0.935000	0.57460|0.57460	1.749000|1.749000	0.38319|0.38319	1.257000|1.257000	0.44085|0.44085	0.655000|0.655000	0.94253|0.94253	GAG|TGA	MATN2	-	pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom	ENSG00000132561		0.582	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	-	0	52	0	G			98973737	1	tier1	-	no_errors	ENST00000254898	ensembl	human	known	74_37	missense	13.64	75	12	SNP	0.938	C	C	98973737	G	C	98973737	3	2	25	1	0	0	0	0	1	0	0	0	9372	1291	45	5	951	5	MATN2	8	98973737	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	10676709	98973737	47390285	90	6430											
ANGPT1	284	genome.wustl.edu	37	chr8	108359252	108359252	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctccagcatggtagccGtgtggttctgaactgcattc	7	13	10	11	1	2	1	0	1	2	0	4	1	2	1	2	2	4	4	2	2	3	4	rs573252778		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:108359252G>T								ANGPT1 (10502 upstream) : RNA5SP275 (537469 downstream)																							CATGGTAGCCGTGTGGTTCTG	0.488																																																	0													171	151	158					8																	108359252		2203	4300	6503	SO:0001628	intergenic_variant	0																															8.37:g.108359252G>T				Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.T124K		37	c.371		8	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798133	0.70567	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520033	T;T	0.39406	1.08;1.08	5.95	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67185	-0.5734	10	0.49607	T	0.09	.	15.1296	0.72511	0.0676:0.0:0.9324:0.0	.	124;124	Q5HYA0;Q15389	.;ANGP1_HUMAN	K	124;124;17	ENSP00000428340:T124K;ENSP00000297450:T124K	ENSP00000297450:T124K	T	-	2	0	ANGPT1	108428428	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.864000	0.99589	1.520000	0.48965	0.655000	0.94253	ACG	ANGPT1	-	NULL	ENSG00000154188	0	0.488					ANGPT1	HGNC			-	0	52	0	G			108359252	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	missense	12.94	73	11	SNP	1.000	T	T	108359252	G	T	108359252	1	4	25	0	1	0	0	0	0	0	0	0	610	1145	40	2		2	ANGPT1	8	108359252	IGR	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	9385515	108359252	38004770	91	6431											
KCNQ3	3786	genome.wustl.edu	37	chr8	133192457	133192457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggtgccacctctccGgtccatccgcagcatgcgca	6	8	9	18	3	1	0	0	0	1	0	5	0	4	0	6	2	3	3	6	2	0	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:133192457G>A	ENST00000388996.4	-	4	1144	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R122W|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R242W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	242					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCACCTCTCCGGTCCATCCGC	0.602																																																	0													89	80	83					8																	133192457		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.724C>T	8.37:g.133192457G>A	ENSP00000373648:p.Arg242Trp		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R242W	ENST00000388996.4	37	c.724	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082828	0.76642	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98792	-5.14;-5.14;-5.14	5.66	2.51	0.30379	Ion transport (1);	0.110724	0.56097	D	0.000024	D	0.99149	0.9706	M	0.90705	3.14	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99157	1.0860	10	0.87932	D	0	-11.4551	14.002	0.64439	0.0:0.0:0.6035:0.3965	.	242;242	E7ET42;O43525	.;KCNQ3_HUMAN	W	242;122;242;231;121	ENSP00000373648:R242W;ENSP00000429799:R122W;ENSP00000428790:R242W	ENSP00000373648:R242W	R	-	1	2	KCNQ3	133261639	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.793000	0.26944	1.340000	0.45581	0.561000	0.74099	CGG	KCNQ3	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000184156		0.602	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	45	0	G	NM_004519		133192457	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	A	A	133192457	G	A	133192457	3	1	25	1	0	0	0	0	1	0	0	0	8111	1115	39	1	1942	1	KCNQ3	8	133192457	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	24833205	133192457	13171565	92	6432											
CYP11B2	1585	genome.wustl.edu	37	chr8	143995794	143995794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtgttgagggcggttGaaggccagttcctggtagat	7	12	17	5	1	0	3	0	2	0	1	1	3	1	3	2	4	0	5	2	4	3	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:143995794G>T	ENST00000323110.2	-	5	842	c.840C>A	c.(838-840)ttC>ttA	p.F280L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	280					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GAGGGCGGTTGAAGGCCAGTT	0.547									Familial Hyperaldosteronism type I																																								0													134	114	121					8																	143995794		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.840C>A	8.37:g.143995794G>T	ENSP00000325822:p.Phe280Leu		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.F280L	ENST00000323110.2	37	c.840	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	5.731	0.319257	0.10845	.	.	ENSG00000179142	ENST00000323110	T	0.66815	-0.23	3.96	-0.44	0.12261	.	1.404360	0.05332	N	0.528484	T	0.22551	0.0544	N	0.00092	-2.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12451	-1.0547	10	0.22706	T	0.39	.	2.7418	0.05255	0.3735:0.0:0.419:0.2075	.	280	P19099	C11B2_HUMAN	L	280	ENSP00000325822:F280L	ENSP00000325822:F280L	F	-	3	2	CYP11B2	143992796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.189000	0.00565	0.010000	0.14839	0.462000	0.41574	TTC	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000179142		0.547	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1		0	36	0	G			143995794	-1			no_errors	ENST00000323110	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.000	T	T	143995794	G	T	143995794	3	4	25	1	0	0	0	0	1	0	0	0	4155	1281	45	3	691	3	CYP11B2	8	143995794	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	10803337	143995794	2368228	93	6433											
CYP11B2	1585	genome.wustl.edu	37	chr8	143999142	143999142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatgctggggcatggcttCaaacggcagcaccgtcctag	8	8	14	11	2	1	0	1	0	0	0	2	1	2	1	2	5	3	5	2	5	2	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr8:143999142C>G	ENST00000323110.2	-	1	117	c.115G>C	c.(115-117)Gaa>Caa	p.E39Q		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	39					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCATGGCTTCAAACGGCAGC	0.642									Familial Hyperaldosteronism type I																																								0													82	75	78					8																	143999142		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.115G>C	8.37:g.143999142C>G	ENSP00000325822:p.Glu39Gln		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E39Q	ENST00000323110.2	37	c.115	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	9.165	1.019590	0.19355	.	.	ENSG00000179142	ENST00000323110	T	0.74947	-0.89	3.48	1.64	0.23874	.	0.170868	0.27105	U	0.020907	T	0.64875	0.2638	L	0.57536	1.79	0.31189	N	0.701137	B	0.20887	0.049	B	0.25987	0.065	T	0.62220	-0.6900	10	0.51188	T	0.08	.	3.3211	0.07050	0.0:0.5236:0.2237:0.2527	.	39	P19099	C11B2_HUMAN	Q	39	ENSP00000325822:E39Q	ENSP00000325822:E39Q	E	-	1	0	CYP11B2	143996144	0.391000	0.25221	0.999000	0.59377	0.437000	0.31866	0.416000	0.21198	0.808000	0.34231	0.655000	0.94253	GAA	CYP11B2	-	NULL	ENSG00000179142		0.642	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1		0	26	0	C			143999142	-1			no_errors	ENST00000323110	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.987	G	G	143999142	C	G	143999142	3	3	25	1	0	0	0	0	1	0	0	0	4155	835	29	5	1432	5	CYP11B2	8	143999142	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3348	143999142	2364880	94	6434											
DOCK8	81704	genome.wustl.edu	37	chr9	399175	399175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcggaaaagatgaacatCagcctggctttcttcttgta	11	11	10	9	1	3	2	1	1	2	1	3	3	3	3	1	3	2	2	1	3	4	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:399175C>T	ENST00000453981.1	+	26	3262	c.3150C>T	c.(3148-3150)atC>atT	p.I1050I	DOCK8_ENST00000469391.1_Silent_p.I950I|DOCK8_ENST00000432829.2_Silent_p.I982I|DOCK8_ENST00000382329.1_Silent_p.I517I|DOCK8_ENST00000382331.1_Silent_p.I352I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1050					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGATGAACATCAGCCTGGCTT	0.463																																																	0													168	146	154					9																	399175		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3150C>T	9.37:g.399175C>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.I1050	ENST00000453981.1	37	c.3150	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.463	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0	53	0	C	XM_036307		399175	1	tier1	-	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	14.47	65	11	SNP	1.000	T	T	399175	C	T	399175	2	4	25	1	0	0	0	0	0	0	0	1	4707	816	29	3		3	DOCK8	9	399175	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		399175	140814256	95	6435											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18776926	18776926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggtgctgcgctgccCggcgcgcagggtccgcaagc	3	5	19	14	6	0	0	0	0	0	0	1	0	1	0	2	5	4	4	2	5	1	0	rs376039296		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:18776926C>T	ENST00000380548.4	+	19	3038	c.2699C>T	c.(2698-2700)cCg>cTg	p.P900L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	900	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGCGCTGCCCGGCGCGCAGG	0.657																																																	0								C	LEU/PRO	0,4114		0,0,2057	23	30	28		2699	4.6	1	9		28	1,8369		0,1,4184	no	missense	ADAMTSL1	NM_001040272.5	98	0,1,6241	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	900/1763	18776926	1,12483	2057	4185	6242	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2699C>T	9.37:g.18776926C>T	ENSP00000369921:p.Pro900Leu		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P900L	ENST00000380548.4	37	c.2699	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852751	0.51270	0.0	1.19E-4	ENSG00000178031	ENST00000380548	T	0.12255	2.7	5.48	4.56	0.56223	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	100.034000	0.05078	U	0.482860	T	0.30293	0.0760	L	0.39514	1.22	0.80722	D	1	D	0.61697	0.99	P	0.58077	0.832	T	0.00317	-1.1822	10	0.72032	D	0.01	.	15.4282	0.75072	0.1402:0.8598:0.0:0.0	.	900	Q8N6G6	ATL1_HUMAN	L	900	ENSP00000369921:P900L	ENSP00000369921:P900L	P	+	2	0	ADAMTSL1	18766926	1.000000	0.71417	0.995000	0.50966	0.427000	0.31564	4.780000	0.62382	1.262000	0.44165	0.563000	0.77884	CCG	ADAMTSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000178031		0.657	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	34	0	C			18776926	1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	missense	61.02	23	36	SNP	1.000	T	T	18776926	C	T	18776926	3	4	25	1	0	0	0	0	1	0	0	0	274	652	23	1	2777	1	ADAMTSL1	9	18776926	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	18377751	18776926	122436505	96	6436											
PPP3R2	116443	genome.wustl.edu	37	chr9	104356900	104356900	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggaaatgtagccatctttatCcatgtcgtaaatgctgaacg	12	12	9	8	2	1	1	0	1	1	0	3	2	2	2	2	1	3	3	2	1	6	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:104356900C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.D105N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CCATCTTTATCCATGTCGTAA	0.532																																																	0													147	133	138					9																	104356900		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15258G>A	9.37:g.104356900C>T			B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.D105N	ENST00000361820.3	37	c.313	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474478	0.84640	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.74947	-0.89	3.97	3.97	0.46021	EF-hand-like domain (1);	0.000000	0.43260	D	0.000599	T	0.67785	0.2930	N	0.16743	0.435	0.48571	D	0.999673	B	0.31879	0.344	B	0.43225	0.412	T	0.72737	-0.4203	10	0.87932	D	0	-19.1265	14.3488	0.66685	0.0:1.0:0.0:0.0	.	102	Q96LZ3	CANB2_HUMAN	N	105	ENSP00000363939:D105N	ENSP00000363939:D105N	D	-	1	0	PPP3R2	103396721	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	7.490000	0.81461	2.507000	0.84556	0.563000	0.77884	GAT	PPP3R2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000188386		0.532	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP3R2	HGNC	protein_coding	OTTHUMT00000053453.1	-	0	52	0	C			104356900	-1	tier1	-	no_errors	ENST00000374806	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T	T	104356900	C	T	104356900	1	4	25	0	1	0	0	0	0	0	0	0	12443	855	30	3		3	PPP3R2	9	104356900	Intron	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	85579974	104356900	36856531	97	6437											
CTNNAL1	8727	genome.wustl.edu	37	chr9	111741738	111741738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggactgaaaataaagattCtcccgaagagcttcaatatt	15	12	7	7	1	2	3	1	1	1	2	3	5	2	4	1	1	1	1	1	1	7	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:111741738C>T	ENST00000325551.4	-	7	1010	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CTNNAL1_ENST00000488130.1_5'Flank|CTNNAL1_ENST00000325580.6_Silent_p.E308E|CTNNAL1_ENST00000374595.4_Silent_p.E308E	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	308					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.E308E(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AATAAAGATTCTCCCGAAGAG	0.418																																																	1	Substitution - coding silent(1)	urinary_tract(1)											83	78	80					9																	111741738		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.924G>A	9.37:g.111741738C>T			B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.E308	ENST00000325551.4	37	c.924	CCDS6775.1	9																																																																																			CTNNAL1	-	NULL	ENSG00000119326		0.418	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	-	0	35	0	C	NM_003798		111741738	-1	tier1	-	no_errors	ENST00000325551	ensembl	human	known	74_37	silent	14.04	49	8	SNP	1.000	T	T	111741738	C	T	111741738	2	4	25	1	0	0	0	0	0	0	0	1	4024	912	32	3		3	CTNNAL1	9	111741738	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	7384838	111741738	29471693	98	6438											
DAB2IP	153090	genome.wustl.edu	37	chr9	124538484	124538484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctggtaggacctggCggtgctgcaggacaagctgc	6	7	15	13	1	0	0	0	0	0	0	1	2	1	2	3	5	4	4	3	5	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:124538484C>T	ENST00000408936.3	+	14	3310	c.3128C>T	c.(3127-3129)gCg>gTg	p.A1043V	DAB2IP_ENST00000259371.2_Missense_Mutation_p.A1015V|DAB2IP_ENST00000309989.1_Missense_Mutation_p.A919V			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1043					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TAGGACCTGGCGGTGCTGCAG	0.627																																																	0													29	24	26					9																	124538484		2197	4292	6489	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.3128C>T	9.37:g.124538484C>T	ENSP00000386183:p.Ala1043Val		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.A1043V	ENST00000408936.3	37	c.3128		9	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285858	0.23478	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.99	3.97	0.46021	.	1.175700	0.05985	N	0.644974	T	0.07683	0.0193	N	0.14661	0.345	0.34741	D	0.730789	B;B	0.17268	0.006;0.021	B;B	0.12837	0.002;0.008	T	0.42965	-0.9420	10	0.14252	T	0.57	.	3.5676	0.07905	0.0:0.6506:0.0:0.3494	.	1043;1015	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	V	1015;1043;952;919	ENSP00000259371:A1015V;ENSP00000386183:A1043V;ENSP00000362887:A952V;ENSP00000310827:A919V	ENSP00000259371:A1015V	A	+	2	0	DAB2IP	123578305	0.987000	0.35691	0.999000	0.59377	0.967000	0.64934	2.479000	0.45197	2.305000	0.77605	0.561000	0.74099	GCG	DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.627	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1		0	50	0	C	NM_032552		124538484	1			no_errors	ENST00000408936	ensembl	human	known	74_37	missense	12.50	56	8	SNP	0.991	T	T	124538484	C	T	124538484	3	4	25	1	0	0	0	0	1	0	0	0	4228	768	27	1	3098	1	DAB2IP	9	124538484	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	12796746	124538484	16674947	99	6439											
OR1L1	26737	genome.wustl.edu	37	chr9	125424367	125424367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccattgaccgctatgtgGccatatgtaatcccttccac	8	12	8	13	1	0	1	0	1	0	0	2	1	2	1	5	2	0	2	5	2	3	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:125424367G>T	ENST00000373686.1	+	1	523	c.523G>T	c.(523-525)Gcc>Tcc	p.A175S	OR1L1_ENST00000309623.1_Missense_Mutation_p.A125S			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						CCGCTATGTGGCCATATGTAA	0.468																																																	0													276	248	257					9																	125424367		2203	4300	6503	SO:0001583	missense	0				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.523G>T	9.37:g.125424367G>T	ENSP00000362790:p.Ala175Ser		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A175S	ENST00000373686.1	37	c.523		9	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840026	0.51057	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.01209	5.17;5.17	3.11	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03871	0.0109	M	0.81942	2.565	0.25730	N	0.985278	P	0.47350	0.894	P	0.52267	0.694	T	0.21449	-1.0245	9	0.87932	D	0	.	8.0769	0.30722	0.2164:0.0:0.7836:0.0	.	175	Q8NH94	OR1L1_HUMAN	S	175;125	ENSP00000362790:A175S;ENSP00000310773:A125S	ENSP00000310773:A125S	A	+	1	0	OR1L1	124464188	1.000000	0.71417	0.180000	0.23079	0.019000	0.09904	5.261000	0.65496	0.158000	0.19367	-0.657000	0.03884	GCC	OR1L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000173679		0.468	OR1L1-201	KNOWN	basic	protein_coding	OR1L1	HGNC	protein_coding		-	0	94	0	G			125424367	1	tier1	-	no_errors	ENST00000373686	ensembl	human	known	74_37	missense	16.19	88	17	SNP	1.000	T	T	125424367	G	T	125424367	3	4	25	1	0	0	0	0	1	0	0	0	11002	1203	42	3	375	3	OR1L1	9	125424367	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	885883	125424367	15789064	100	6440											
GOLGA2	2801	genome.wustl.edu	37	chr9	131020815	131020815	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctcctcctcctcCtcatcctcctcctcctcccg	1	12	2	26	1	1	0	1	0	0	0	12	0	12	0	12	0	0	0	12	0	0	0	rs572632320|rs62587120		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:131020815C>A	ENST00000421699.2	-	21	2139	c.2127G>T	c.(2125-2127)gaG>gaT	p.E709D	GOLGA2_ENST00000609374.1_Missense_Mutation_p.E697D|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	709	Poly-Glu.			Missing (in Ref. 5; AAP35912). {ECO:0000305}.	mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.E697D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						cctcctcctcctcatcctcct	0.652																																																	1	Substitution - Missense(1)	pancreas(1)											39	34	36					9																	131020815		2203	4300	6503	SO:0001583	missense	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2127G>T	9.37:g.131020815C>A	ENSP00000416097:p.Glu709Asp		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.E709D	ENST00000421699.2	37	c.2127	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	c	3.870	-0.028197	0.07589	.	.	ENSG00000167110	ENST00000421699	D	0.90261	-2.64	.	.	.	.	0.646342	0.13374	U	0.392645	T	0.78013	0.4217	N	0.04508	-0.205	0.09310	N	1	P	0.51933	0.949	P	0.52957	0.714	T	0.73023	-0.4113	8	0.06757	T	0.87	.	.	.	.	rs62587120	709	Q08379	GOGA2_HUMAN	D	709	ENSP00000416097:E709D	ENSP00000416097:E709D	E	-	3	2	GOLGA2	130060636	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.406000	0.02490	-1.111000	0.02988	-1.166000	0.01754	GAG	GOLGA2	-	NULL	ENSG00000167110		0.652	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2		0	40	0	C	NM_004486		131020815	-1			no_errors	ENST00000421699	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.001	A	A	131020815	C	A	131020815	3	1	25	1	0	0	0	0	1	0	0	0	6578	680	24	3	905	3	GOLGA2	9	131020815	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	5596448	131020815	10192616	101	6441											
FAM73B	84895	genome.wustl.edu	37	chr9	131823531	131823531	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgagtccctgcagactGgagattacccgatcccactc	8	11	8	14	1	1	3	0	1	1	2	4	5	3	3	3	1	2	1	3	1	1	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:131823531G>T	ENST00000358369.4	+	9	1142	c.916G>T	c.(916-918)Gga>Tga	p.G306*	FAM73B_ENST00000406926.2_Nonsense_Mutation_p.G306*|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	306					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CCTGCAGACTGGAGATTACCC	0.642											OREG0003927	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													47	35	39					9																	131823531		2203	4299	6502	SO:0001587	stop_gained	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.916G>T	9.37:g.131823531G>T	ENSP00000351138:p.Gly306*	1590	Q8NBM3|Q8TEJ6|Q969E6	Nonsense_Mutation	SNP	pfam_DUF2217	p.G306*	ENST00000358369.4	37	c.916	CCDS6917.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179043	0.78564	.	.	ENSG00000148343	ENST00000358369;ENST00000406926	.	.	.	4.98	3.16	0.36331	.	0.314786	0.35805	N	0.002967	.	.	.	.	.	.	0.23126	N	0.998251	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-5.7832	8.1789	0.31298	0.2444:0.0:0.7556:0.0	.	.	.	.	X	306	.	ENSP00000351138:G306X	G	+	1	0	FAM73B	130863352	1.000000	0.71417	0.008000	0.14137	0.026000	0.11368	3.945000	0.56637	0.524000	0.28502	-0.698000	0.03680	GGA	FAM73B	-	pfam_DUF2217	ENSG00000148343		0.642	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7		0	23	0	G	NM_032809		131823531	1			no_errors	ENST00000358369	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.033	T	T	131823531	G	T	131823531	4	4	25	1	0	0	0	0	0	1	0	0	5640	1349	47	3	946	3	FAM73B	9	131823531	Nonsense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	802716	131823531	9389900	102	6442											
C9orf37	85026	genome.wustl.edu	37	chr9	140510587	140510587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagtactttgggaggctGaggcaggtggattgcttgag	7	11	16	7	0	0	2	0	2	0	0	1	4	1	4	1	5	2	4	1	5	1	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr9:140510587G>A	ENST00000371417.3	-	3	605	c.65C>T	c.(64-66)tCa>tTa	p.S22L	C9orf37_ENST00000496793.1_5'UTR|EHMT1_ENST00000334856.6_5'Flank|EHMT1_ENST00000460843.1_5'Flank|EHMT1_ENST00000462484.1_5'Flank	NM_032937.4	NP_116326.2	Q9H2J1	CI037_HUMAN		22										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		ttgggaggctgaggcaggtgg	0.473																																																	0													20	21	21					9																	140510587		2040	4029	6069	SO:0001583	missense	0																														ENST00000371417.3:c.65C>T	9.37:g.140510587G>A	ENSP00000360471:p.Ser22Leu		Q17RM5|Q5T368	Missense_Mutation	SNP	NULL	p.S22L	ENST00000371417.3	37	c.65	CCDS35189.1	9	.	.	.	.	.	.	.	.	.	.	G	6.179	0.401145	0.11696	.	.	ENSG00000203993	ENST00000371417	T	0.62105	0.05	0.199	-0.397	0.12423	.	.	.	.	.	T	0.41166	0.1147	N	0.20881	0.62	0.09310	N	1	B	0.19706	0.038	B	0.25506	0.061	T	0.21861	-1.0233	8	0.33940	T	0.23	.	.	.	.	.	22	Q9H2J1	CI037_HUMAN	L	22	ENSP00000360471:S22L	ENSP00000360471:S22L	S	-	2	0	C9orf37	139630408	0.002000	0.14202	0.044000	0.18714	0.061000	0.15899	-0.227000	0.09126	-1.205000	0.02645	-1.225000	0.01585	TCA	C9orf37	-	NULL	ENSG00000203993		0.473	C9orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf37	HGNC	protein_coding	OTTHUMT00000055328.1		0	18	0	G			140510587	-1			no_errors	ENST00000371417	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.052	A	A	140510587	G	A	140510587	3	1	25	1	0	0	0	0	1	0	0	0	2486	1294	45	3	469	3	C9orf37	9	140510587	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	8687056	140510587	702844	103	6443											
PITRM1	10531	genome.wustl.edu	37	chr10	3212331	3212331	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatggatcttgtctcctaGtttatactgcagagccctct	7	15	7	12	0	3	1	0	0	3	1	5	2	4	2	3	1	3	2	3	1	3	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr10:3212331G>C	ENST00000224949.4	-	2	158	c.124C>G	c.(124-126)Cta>Gta	p.L42V	PITRM1_ENST00000451104.2_Intron|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.L42V			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	42					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTGTCTCCTAGTTTATACTGC	0.483																																																	0													121	123	122					10																	3212331		1992	4180	6172	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.124C>G	10.37:g.3212331G>C	ENSP00000224949:p.Leu42Val		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.L42V	ENST00000224949.4	37	c.124	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.508293	0.00153	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989	T;T	0.03496	3.91;3.91	5.6	-0.757	0.11054	Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.618212	0.17573	N	0.169403	T	0.00637	0.0021	N	0.00154	-1.97	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0	T	0.43180	-0.9407	10	0.02654	T	1	.	2.3175	0.04202	0.0981:0.3062:0.2933:0.3025	.	35;42;42;42;35	E9PDX6;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	V	42;35;42	ENSP00000224949:L42V;ENSP00000370377:L42V	ENSP00000224949:L42V	L	-	1	2	PITRM1	3202331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.230000	0.17852	-0.149000	0.11215	-1.181000	0.01715	CTA	PITRM1	-	superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.483	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0	59	0	G			3212331	-1	tier1	-	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.000	C	C	3212331	G	C	3212331	3	2	25	1	0	0	0	0	1	0	0	0	11992	1020	36	5	3093	5	PITRM1	10	3212331	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		3212331	132322416	104	6444											
SLC18A3	6572	genome.wustl.edu	37	chr10	50818912	50818912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttatcgtgtgcgtggcGctgttactggacaacatgct	6	14	12	9	3	0	0	0	0	0	0	1	1	0	1	0	2	4	4	0	2	3	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr10:50818912G>A	ENST00000374115.3	+	1	566	c.126G>A	c.(124-126)gcG>gcA	p.A42A	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	42					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGTGCGTGGCGCTGTTACTGG	0.701																																																	0													53	40	45					10																	50818912		2202	4300	6502	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.126G>A	10.37:g.50818912G>A			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A42	ENST00000374115.3	37	c.126	CCDS7231.1	10																																																																																			SLC18A3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.701	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0	37	0	G	NM_003055		50818912	1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.994	A	A	50818912	G	A	50818912	2	1	25	1	0	0	0	0	0	0	0	1	14472	1074	38	1		1	SLC18A3	10	50818912	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	47606581	50818912	84715835	105	6445											
PCDH15	65217	genome.wustl.edu	37	chr10	56077074	56077074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgataagtgagtggaCggcaatcacgagtgtttggc	10	10	14	7	2	1	2	1	2	0	0	1	4	1	3	0	3	1	3	0	3	2	3	rs369442293		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr10:56077074C>T	ENST00000320301.6	-	8	1227	c.833G>A	c.(832-834)cGt>cAt	p.R278H	PCDH15_ENST00000361849.3_Missense_Mutation_p.R278H|PCDH15_ENST00000395446.1_Missense_Mutation_p.R278H|PCDH15_ENST00000395438.1_Missense_Mutation_p.R278H|PCDH15_ENST00000395433.1_Missense_Mutation_p.R256H|PCDH15_ENST00000395445.1_Missense_Mutation_p.R278H|PCDH15_ENST00000414778.1_Missense_Mutation_p.R283H|PCDH15_ENST00000437009.1_Missense_Mutation_p.R278H|PCDH15_ENST00000395432.2_Missense_Mutation_p.R241H|PCDH15_ENST00000395442.1_Missense_Mutation_p.R278H|PCDH15_ENST00000373955.1_Missense_Mutation_p.R278H|PCDH15_ENST00000373957.3_Missense_Mutation_p.R256H|PCDH15_ENST00000395430.1_Missense_Mutation_p.R278H|PCDH15_ENST00000395440.1_Missense_Mutation_p.R278H|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.R278H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGTGAGTGGACGGCAATCACG	0.448										HNSCC(58;0.16)			c|||	1	0.000199681	8e-04	0	5008	,	,		15100	0		0	False		,,,				2504	0																0									HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405		0,1,2202	143	117	126		848,833,833,833,722,767,848,833,848,833,767,833	4.8	1	10		126	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	29,29,29,29,29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	283/1963,278/1958,278/1887,278/1953,241/1916,256/1936,283/1791,278/1540,283/1683,278/1678,256/1933,278/1956	56077074	1,13005	2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.833G>A	10.37:g.56077074C>T	ENSP00000322604:p.Arg278His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R278H	ENST00000320301.6	37	c.833	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982796	0.74474	2.27E-4	0.0	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57907	0.48;0.53;0.48;0.45;0.46;0.67;0.59;0.42;0.4;0.45;0.37;0.4;0.4;0.46;0.55	4.77	4.77	0.60923	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.66056	0.2751	L	0.40543	1.245	0.26005	N	0.982064	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.997;0.997;0.998;0.997;1.0;0.988;0.997;0.997;0.993;0.993;0.996;0.993;0.997	D;P;P;P;P;P;D;P;P;P;P;P;P;P;P	0.85130	0.997;0.893;0.847;0.774;0.845;0.893;0.997;0.664;0.695;0.695;0.55;0.664;0.855;0.818;0.847	T	0.59804	-0.7385	9	0.42905	T	0.14	.	17.7447	0.88416	0.0:1.0:0.0:0.0	.	256;278;278;283;278;241;278;278;278;278;278;283;278;256;278	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	278;283;278;278;278;278;278;278;241;278;256;256;278;278;283;278;278	ENSP00000363076:R278H;ENSP00000410304:R283H;ENSP00000378826:R278H;ENSP00000378832:R278H;ENSP00000378833:R278H;ENSP00000378829:R278H;ENSP00000378827:R278H;ENSP00000378820:R241H;ENSP00000354950:R278H;ENSP00000378821:R256H;ENSP00000363068:R256H;ENSP00000322604:R278H;ENSP00000378818:R278H;ENSP00000412628:R278H;ENSP00000363066:R278H	ENSP00000322604:R278H	R	-	2	0	PCDH15	55747080	0.993000	0.37304	0.999000	0.59377	0.994000	0.84299	2.977000	0.49297	2.346000	0.79739	0.557000	0.71058	CGT	PCDH15	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.448	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	45	0	C	NM_033056		56077074	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.983	T	T	56077074	C	T	56077074	3	4	25	1	0	0	0	0	1	0	0	0	11550	536	19	1	6782	1	PCDH15	10	56077074	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	5258162	56077074	79457673	106	6446											
GRID1	2894	genome.wustl.edu	37	chr10	87379698	87379698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgctgctgatgctgttGccgatgacagtcaccgagca	7	10	11	13	2	1	2	1	2	0	0	1	4	1	2	3	0	5	5	3	0	0	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr10:87379698G>A	ENST00000327946.7	-	14	2371	c.2286C>T	c.(2284-2286)ggC>ggT	p.G762G	GRID1_ENST00000536331.1_Silent_p.G333G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	762					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGATGCTGTTGCCGATGACAG	0.582										Multiple Myeloma(13;0.14)																																							0													131	96	108					10																	87379698		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2286C>T	10.37:g.87379698G>A			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G762	ENST00000327946.7	37	c.2286	CCDS31236.1	10																																																																																			GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.582	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0	48	0	G	XM_043613		87379698	-1	tier1	-	no_errors	ENST00000327946	ensembl	human	known	74_37	silent	16.18	57	11	SNP	0.998	A	A	87379698	G	A	87379698	2	1	25	1	0	0	0	0	0	0	0	1	6798	1306	46	3		3	GRID1	10	87379698	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	31302624	87379698	48155049	107	6447											
CYP2C18	1562	genome.wustl.edu	37	chr10	96466623	96466623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattttgcttacattaaaaGttatgtattggagagaataa	17	15	7	2	0	0	1	0	0	0	1	0	3	0	2	0	1	2	3	0	1	8	8			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr10:96466623G>T	ENST00000285979.6	+	5	924	c.725G>T	c.(724-726)aGt>aTt	p.S242I	CYP2C18_ENST00000339022.5_Intron|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	242					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TACATTAAAAGTTATGTATTG	0.328																																																	0													59	62	61					10																	96466623		2203	4299	6502	SO:0001583	missense	0			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.725G>T	10.37:g.96466623G>T	ENSP00000285979:p.Ser242Ile		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S242I	ENST00000285979.6	37	c.725	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	10.01	1.234309	0.22626	.	.	ENSG00000108242	ENST00000285979	T	0.69306	-0.39	3.65	-5.47	0.02600	.	1.172750	0.06182	U	0.679634	T	0.67202	0.2868	M	0.82716	2.605	0.09310	N	1	P	0.40083	0.702	B	0.36959	0.237	T	0.66933	-0.5798	10	0.66056	D	0.02	.	13.543	0.61686	0.8355:0.0:0.1645:0.0	.	242	P33260	CP2CI_HUMAN	I	242	ENSP00000285979:S242I	ENSP00000285979:S242I	S	+	2	0	CYP2C18	96456613	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-2.109000	0.01335	-1.231000	0.02557	-0.676000	0.03789	AGT	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000108242		0.328	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1		0	23	0	G	NM_000772		96466623	1			no_errors	ENST00000285979	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T	T	96466623	G	T	96466623	3	4	25	1	0	0	0	0	1	0	0	0	4174	1029	36	3	743	3	CYP2C18	10	96466623	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	9086925	96466623	39068124	108	6448											
C10orf90	118611	genome.wustl.edu	37	chr10	128193492	128193492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgtgaatgttgactcCgctgcggttagccagagatt	7	13	12	9	2	1	3	0	2	1	1	2	4	2	3	2	1	3	4	2	1	2	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr10:128193492C>T	ENST00000284694.7	-	3	397	c.277G>A	c.(277-279)Gga>Aga	p.G93R	C10orf90_ENST00000356858.3_Missense_Mutation_p.G46R|C10orf90_ENST00000544758.1_Missense_Mutation_p.G190R|C10orf90_ENST00000392694.1_Missense_Mutation_p.G46R|C10orf90_ENST00000454341.1_Missense_Mutation_p.G93R|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	93					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ATGTTGACTCCGCTGCGGTTA	0.552											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													146	114	125					10																	128193492		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.277G>A	10.37:g.128193492C>T	ENSP00000284694:p.Gly93Arg	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.G190R	ENST00000284694.7	37	c.568	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	C	13.13	2.143818	0.37825	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.28454	1.91;1.9;1.94;1.92;1.61	4.66	-7.72	0.01250	.	1.183880	0.06089	N	0.663345	T	0.14141	0.0342	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B	0.34255	0.108;0.445;0.219;0.108;0.045	B;B;B;B;B	0.23852	0.023;0.049;0.028;0.023;0.016	T	0.13737	-1.0498	10	0.45353	T	0.12	-0.1042	1.8291	0.03127	0.15:0.1538:0.2683:0.428	.	190;190;46;93;93	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	R	46;93;93;190;93;46;46	ENSP00000284694:G93R;ENSP00000398786:G93R;ENSP00000444369:G190R;ENSP00000405995:G93R;ENSP00000376459:G46R	ENSP00000284694:G93R	G	-	1	0	C10orf90	128183482	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.892000	0.04131	-1.422000	0.02004	0.561000	0.74099	GGA	C10orf90	-	NULL	ENSG00000154493		0.552	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0	36	0	C	NM_001004298		128193492	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.000	T	T	128193492	C	T	128193492	3	4	25	1	0	0	0	0	1	0	0	0	1628	661	23	1	1850	1	C10orf90	10	128193492	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	31726869	128193492	7341255	109	6449											
SIGIRR	59307	genome.wustl.edu	37	chr11	406002	406002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctccggctctctcccagcGagaccccactggtgtgcggt	4	9	12	16	3	1	1	0	0	1	1	4	2	3	1	4	3	3	2	4	3	0	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:406002G>A	ENST00000431843.2	-	10	1433	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	SIGIRR_ENST00000531205.1_Silent_p.L472L|SIGIRR_ENST00000332725.3_Missense_Mutation_p.S376L|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000382520.2_Silent_p.L472L|SIGIRR_ENST00000397632.3_Missense_Mutation_p.S376L	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	376					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTCCCAGCGAGACCCCACT	0.642																																																	0													39	33	35					11																	406002		2193	4290	6483	SO:0001583	missense	0				CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30575	protein-coding gene	gene with protein product	"single immunoglobulin domain IL1R1 related"	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.1127C>T	11.37:g.406002G>A	ENSP00000403104:p.Ser376Leu		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.S376L	ENST00000431843.2	37	c.1127	CCDS31325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.83|13.83	2.354518|2.354518	0.41700|0.41700	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000526395|ENST00000528845;ENST00000431843;ENST00000397632;ENST00000332725	.|T;T;T	.|0.03094	.|4.05;4.05;4.05	3.56|3.56	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.04318|0.04318	0.0119|0.0119	L|L	0.44542|0.44542	1.39|1.39	0.22571|0.22571	N|N	0.998971|0.998971	.|B	.|0.28605	.|0.217	.|B	.|0.17098	.|0.017	T|T	0.32134|0.32134	-0.9918|-0.9918	5|9	.|0.54805	.|T	.|0.06	.|.	11.2974|11.2974	0.49286|0.49286	0.0:0.1843:0.8157:0.0|0.0:0.1843:0.8157:0.0	.|.	.|376	.|Q6IA17	.|SIGIR_HUMAN	C|L	108|96;376;376;376	.|ENSP00000403104:S376L;ENSP00000380756:S376L;ENSP00000333656:S376L	.|ENSP00000333656:S376L	R|S	-|-	1|2	0|0	SIGIRR|SIGIRR	396002|396002	0.020000|0.020000	0.18652|0.18652	0.009000|0.009000	0.14445|0.14445	0.820000|0.820000	0.46376|0.46376	0.850000|0.850000	0.27737|0.27737	0.609000|0.609000	0.30018|0.30018	0.485000|0.485000	0.47835|0.47835	CGC|TCG	SIGIRR	-	NULL	ENSG00000185187		0.642	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIGIRR	HGNC	protein_coding	OTTHUMT00000383884.3	-	0	39	0	G	NM_021805		406002	-1	tier1	-	no_errors	ENST00000332725	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.052	A	A	406002	G	A	406002	3	1	25	1	0	0	0	0	1	0	0	0	14349	1059	37	1	109	1	SIGIRR	11	406002	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		406002	134600514	110	6450											
OR2D3	120775	genome.wustl.edu	37	chr11	6943135	6943135	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcggtgactccaatgttGaaccccataatttatagctt	12	12	7	10	1	0	2	0	2	0	0	1	2	1	2	3	1	3	2	3	1	5	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:6943135G>C	ENST00000317834.3	+	1	931	c.903G>C	c.(901-903)ttG>ttC	p.L301F		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCAATGTTGAACCCCATAA	0.428																																																	0													81	83	82					11																	6943135		2201	4296	6497	SO:0001583	missense	0			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.903G>C	11.37:g.6943135G>C	ENSP00000320560:p.Leu301Phe		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L301F	ENST00000317834.3	37	c.903	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530132	0.27387	.	.	ENSG00000178358	ENST00000317834	T	0.48522	0.81	4.95	0.683	0.17998	GPCR, rhodopsin-like superfamily (1);	0.908285	0.08905	N	0.876673	T	0.53449	0.1797	M	0.89715	3.055	0.35541	D	0.803051	P	0.40431	0.717	B	0.40134	0.32	T	0.63088	-0.6715	10	0.72032	D	0.01	-26.529	4.9735	0.14129	0.2699:0.0:0.5805:0.1496	.	301	Q8NGH3	OR2D3_HUMAN	F	301	ENSP00000320560:L301F	ENSP00000320560:L301F	L	+	3	2	OR2D3	6899711	0.976000	0.34144	0.990000	0.47175	0.632000	0.37999	0.065000	0.14466	0.363000	0.24346	0.655000	0.94253	TTG	OR2D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000178358		0.428	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	-	0	43	0	G	NM_001004684		6943135	1	tier1	-	no_errors	ENST00000317834	ensembl	human	known	74_37	missense	14.08	61	10	SNP	0.896	C	C	6943135	G	C	6943135	3	2	25	1	0	0	0	0	1	0	0	0	11034	1281	45	5	905	5	OR2D3	11	6943135	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	6537133	6943135	128063381	111	6451											
PTPN5	84867	genome.wustl.edu	37	chr11	18751321	18751321	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcttctggtcgggccaGgatgtgaaccagtaatgctt	7	11	15	8	1	2	1	0	1	2	0	3	2	2	2	2	5	2	2	2	5	2	3	rs146205574		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:18751321G>T	ENST00000358540.2	-	13	1804	c.1374C>A	c.(1372-1374)tcC>tcA	p.S458S	PTPN5_ENST00000396171.4_Silent_p.S458S|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Silent_p.S434S|PTPN5_ENST00000396170.1_Silent_p.S426S|PTPN5_ENST00000396167.2_Silent_p.S426S|PTPN5_ENST00000396166.3_Silent_p.S64S|PTPN5_ENST00000477854.1_Silent_p.S262S	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	458	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.S458S(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGTCGGGCCAGGATGTGAACC	0.642																																																	2	Substitution - coding silent(2)	endometrium(2)											54	66	62					11																	18751321		2167	4278	6445	SO:0001819	synonymous_variant	0			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1374C>A	11.37:g.18751321G>T			B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Silent	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S458	ENST00000358540.2	37	c.1374	CCDS7845.1	11																																																																																			PTPN5	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000110786		0.642	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	HGNC	protein_coding	OTTHUMT00000259196.2		0	34	0	G	NM_001039970		18751321	-1			no_errors	ENST00000358540	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.997	T	T	18751321	G	T	18751321	2	4	25	1	0	0	0	0	0	0	0	1	12836	987	35	3		3	PTPN5	11	18751321	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	11808186	18751321	116255195	112	6452											
KIF18A	81930	genome.wustl.edu	37	chr11	28080629	28080629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctctttgaagtcagattCaaaagcagcatttgacaggc	13	11	9	8	0	3	3	2	2	1	1	4	4	3	3	0	1	2	2	0	1	3	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:28080629C>T	ENST00000263181.6	-	13	2082	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	MIR610_ENST00000385139.1_RNA	NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	598					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						AAGTCAGATTCAAAAGCAGCA	0.398																																																	0													154	155	154					11																	28080629		2202	4299	6501	SO:0001583	missense	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.1792G>A	11.37:g.28080629C>T	ENSP00000263181:p.Glu598Lys		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E598K	ENST00000263181.6	37	c.1792	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258100	0.80246	.	.	ENSG00000121621	ENST00000263181	T	0.73363	-0.74	5.61	5.61	0.85477	.	0.160635	0.56097	D	0.000040	T	0.69287	0.3094	L	0.58101	1.795	0.46078	D	0.998859	P	0.47762	0.9	B	0.40199	0.322	T	0.69060	-0.5245	10	0.06236	T	0.91	.	19.6363	0.95735	0.0:1.0:0.0:0.0	.	598	Q8NI77	KI18A_HUMAN	K	598	ENSP00000263181:E598K	ENSP00000263181:E598K	E	-	1	0	KIF18A	28037205	1.000000	0.71417	0.998000	0.56505	0.648000	0.38561	5.335000	0.65929	2.648000	0.89879	0.585000	0.79938	GAA	KIF18A	-	NULL	ENSG00000121621		0.398	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	-	0	65	0	C	NM_031217		28080629	-1	tier1	-	no_errors	ENST00000263181	ensembl	human	known	74_37	missense	21.05	60	16	SNP	0.999	T	T	28080629	C	T	28080629	3	4	25	1	0	0	0	0	1	0	0	0	8307	835	29	3	924	3	KIF18A	11	28080629	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	9329308	28080629	106925887	113	6453											
MYBPC3	4607	genome.wustl.edu	37	chr11	47372796	47372796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatcaggatcttacctgcctCtatgaccttgaggtcgaact	9	12	9	11	1	3	2	1	2	2	0	4	5	3	3	3	2	3	0	3	2	3	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:47372796C>T	ENST00000545968.1	-	2	340	c.286G>A	c.(286-288)Gag>Aag	p.E96K	MYBPC3_ENST00000399249.2_Missense_Mutation_p.E96K|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E96K	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	96					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TTACCTGCCTCTATGACCTTG	0.597																																																	0													37	38	38					11																	47372796		2105	4216	6321	SO:0001583	missense	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.286G>A	11.37:g.47372796C>T	ENSP00000442795:p.Glu96Lys		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E96K	ENST00000545968.1	37	c.286	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855584	0.32791	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.46819	0.86;0.86;0.86	4.14	3.22	0.36961	.	.	.	.	.	T	0.25975	0.0633	N	0.08118	0	0.52099	D	0.999943	B	0.31383	0.321	B	0.23852	0.049	T	0.11372	-1.0590	9	0.54805	T	0.06	.	11.6668	0.51379	0.0:0.913:0.0:0.087	.	96	Q14896	MYPC3_HUMAN	K	96	ENSP00000442795:E96K;ENSP00000382193:E96K;ENSP00000256993:E96K	ENSP00000256993:E96K	E	-	1	0	MYBPC3	47329372	1.000000	0.71417	0.756000	0.31282	0.059000	0.15707	3.459000	0.53021	0.962000	0.38057	0.313000	0.20887	GAG	MYBPC3	-	NULL	ENSG00000134571		0.597	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	46	0	C			47372796	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	T	T	47372796	C	T	47372796	3	4	25	1	0	0	0	0	1	0	0	0	10051	922	32	3	3663	3	MYBPC3	11	47372796	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	19292167	47372796	87633720	114	6454											
OR5W2	390148	genome.wustl.edu	37	chr11	55681251	55681251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaggtcattttatcttGatctagagaataggaagaac	15	12	9	5	0	3	4	1	2	2	2	3	6	3	5	0	2	1	0	0	2	7	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:55681251G>T	ENST00000344514.1	-	1	807	c.808C>A	c.(808-810)Caa>Aaa	p.Q270K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATTTTATCTTGATCTAGAGAA	0.433																																					Melanoma(48;171 1190 15239 43886 49348)												0													71	80	77					11																	55681251		2201	4296	6497	SO:0001583	missense	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.808C>A	11.37:g.55681251G>T	ENSP00000342448:p.Gln270Lys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q270K	ENST00000344514.1	37	c.808	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	G	7.597	0.672003	0.14776	.	.	ENSG00000187612	ENST00000344514	T	0.00137	8.68	5.01	-0.638	0.11500	GPCR, rhodopsin-like superfamily (1);	0.627848	0.13149	N	0.410070	T	0.00144	0.0004	L	0.39245	1.2	0.09310	N	1	B	0.17465	0.022	B	0.27887	0.084	T	0.11348	-1.0591	10	0.37606	T	0.19	.	12.0692	0.53607	0.0:0.4943:0.3786:0.1271	.	270	Q8NH69	OR5W2_HUMAN	K	270	ENSP00000342448:Q270K	ENSP00000342448:Q270K	Q	-	1	0	OR5W2	55437827	0.000000	0.05858	0.024000	0.17045	0.432000	0.31715	-2.799000	0.00762	-0.434000	0.07275	-0.326000	0.08463	CAA	OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000187612		0.433	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	-	0	32	0	G	NM_001001960		55681251	-1	tier1	-	no_errors	ENST00000344514	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.000	T	T	55681251	G	T	55681251	3	4	25	1	0	0	0	0	1	0	0	0	11224	1299	45	3	126	3	OR5W2	11	55681251	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	8308455	55681251	79325265	115	6455											
OR5T3	390154	genome.wustl.edu	37	chr11	56020238	56020250	+	Frame_Shift_Del	DEL	TACATATAGTGGC	TACATATAGTGGC	-																															tggcattttacatgctactaTacatatagtggctacattta																								rs61746551|rs530466744	byFrequency	TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	TACATATAGTGGC	TACATATAGTGGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:56020238_56020250delTACATATAGTGGC	ENST00000303059.3	+	1	563_575	c.563_575delTACATATAGTGGC	c.(562-576)atacatatagtggctfs	p.IHIVA188fs		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CATGCTACTATACATATAGTGGCTACATTTAGC	0.441																																																	0																																										SO:0001589	frameshift_variant	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.563_575delTACATATAGTGGC	11.37:g.56020238_56020250delTACATATAGTGGC	ENSP00000305403:p.Ile188fs		Q6IFC7	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I190fs	ENST00000303059.3	37	c.563_575	CCDS31524.1	11																																																																																			OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172489		0.441	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1		0	116	0	TACATATAGTGGC	NM_001004747		56020250	1			no_errors	ENST00000303059	ensembl	human	known	74_37	frame_shift_del	6.20	121	8	DEL	0.007:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.000	0	-	56020250	TACATATAGTGGC	-	56020238	7	5	25	1	0	1	0	1	0	0	0	0	11222	1406	49	0	565	0	OR5T3	11	56020238	Frame_Shift_Del	DEL	TACATATAGTGGC	TCGA-IG-A51D-01A-11D-A27G-09	338987	56020238	78986278	116	6456											
SLC22A6	9356	genome.wustl.edu	37	chr11	62751107	62751107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtgcgaaggctgcgcagGtccctgacacagctgtctgc	6	8	15	12	2	1	1	0	1	1	0	2	2	2	1	1	3	4	3	1	3	1	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:62751107G>T	ENST00000377871.3	-	3	796	c.530C>A	c.(529-531)aCc>aAc	p.T177N	SLC22A6_ENST00000458333.2_Missense_Mutation_p.T177N|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T177N|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000421062.2_Missense_Mutation_p.T177N	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	177					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GGCTGCGCAGGTCCCTGACAC	0.607																																																	0													72	63	66					11																	62751107		2201	4298	6499	SO:0001583	missense	0			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"Solute carriers"	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.530C>A	11.37:g.62751107G>T	ENSP00000367102:p.Thr177Asn		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.T177N	ENST00000377871.3	37	c.530	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	G	24.9	4.587043	0.86851	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.53	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.109199	0.64402	D	0.000009	T	0.79233	0.4411	M	0.91354	3.2	0.42975	D	0.994448	D;D;D;D	0.67145	0.98;0.996;0.993;0.996	D;D;D;D	0.72982	0.965;0.965;0.979;0.965	D	0.83567	0.0110	10	0.72032	D	0.01	.	12.0331	0.53410	0.0838:0.0:0.9162:0.0	.	177;177;177;177	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	N	177;156;177;177;177	ENSP00000353597:T177N;ENSP00000367102:T177N;ENSP00000396401:T177N;ENSP00000404441:T177N	ENSP00000353597:T177N	T	-	2	0	SLC22A6	62507683	1.000000	0.71417	0.773000	0.31616	0.973000	0.67179	4.354000	0.59417	1.318000	0.45170	0.650000	0.86243	ACC	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197901		0.607	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	-	0	52	0	G	NM_004790		62751107	-1	tier1	-	no_errors	ENST00000377871	ensembl	human	known	74_37	missense	19.15	38	9	SNP	1.000	T	T	62751107	G	T	62751107	3	4	25	1	0	0	0	0	1	0	0	0	14503	1261	44	3	1193	3	SLC22A6	11	62751107	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	6730869	62751107	72255409	117	6457											
B3GNT1	11041	genome.wustl.edu	37	chr11	66114251	66114251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttcgaaggcaggcaccaCcagcgcggtgcctccccact	8	6	11	16	3	0	0	0	0	0	0	2	2	1	0	5	3	2	2	5	3	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:66114251C>T	ENST00000311181.4	-	1	912	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	BRMS1_ENST00000425825.2_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	256					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCAGGCACCACCAGCGCGGTG	0.617																																																	0													79	85	83					11																	66114251		2200	4295	6495	SO:0001583	missense	0			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.766G>A	11.37:g.66114251C>T	ENSP00000309096:p.Val256Met		Q4TTN0	Missense_Mutation	SNP	NULL	p.V256M	ENST00000311181.4	37	c.766	CCDS8136.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932358	0.73442	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.36520	1.25	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75144	-0.3421	10	0.87932	D	0	-34.1164	16.7135	0.85392	0.0:1.0:0.0:0.0	.	256	O43505	B3GN1_HUMAN	M	256;27	ENSP00000309096:V256M	ENSP00000309096:V256M	V	-	1	0	B3GNT1	65870827	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.360000	0.79487	2.563000	0.86464	0.563000	0.77884	GTG	B3GNT1	-	NULL	ENSG00000174684		0.617	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT1	HGNC	protein_coding	OTTHUMT00000392959.1	-	0	21	0	C	NM_006876		66114251	-1	tier1	-	no_errors	ENST00000311181	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T	T	66114251	C	T	66114251	3	4	25	1	0	0	0	0	1	0	0	0	1257	507	18	3	489	3	B3GNT1	11	66114251	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3363144	66114251	68892265	118	6458											
SHANK2	22941	genome.wustl.edu	37	chr11	70348324	70348324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttaccgagctcctccagCtccgaggtcatggacttgga	8	9	11	13	2	1	0	1	0	0	0	4	5	4	2	4	3	3	2	4	3	1	2	rs534324507	byFrequency	TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:70348324C>A	ENST00000423696.2	-	9	1164	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D	SHANK2_ENST00000449833.2_Missense_Mutation_p.E167D|SHANK2_ENST00000409530.1_Missense_Mutation_p.E166D|SHANK2_ENST00000409161.1_Missense_Mutation_p.E166D|SHANK2_ENST00000338508.4_Missense_Mutation_p.E756D|SHANK2_ENST00000357171.3_Missense_Mutation_p.E167D|SHANK2_ENST00000449116.2_Missense_Mutation_p.E167D			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	376					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTCCTCCAGCTCCGAGGTCA	0.657													C|||	68	0.0135783	0.0136	0.0029	5008	,	,		14990	0.0139		0.0199	False		,,,				2504	0.0143																0																																										SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1128G>T	11.37:g.70348324C>A	ENSP00000394536:p.Glu376Asp		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E756D	ENST00000423696.2	37	c.2268		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.112874|4.112874	0.77210|0.77210	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000412252|ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171	.|T;T;T;T;T;T;T;T;T	.|0.52057	.|2.01;2.01;2.25;0.68;2.1;2.11;0.92;0.92;0.92	4.46|4.46	2.51|2.51	0.30379|0.30379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67608|0.67608	0.2911|0.2911	M|M	0.82323|0.82323	2.585|2.585	0.52501|0.52501	D|D	0.999953|0.999953	.|P;D;D;D	.|0.76494	.|0.757;0.989;0.999;0.964	.|P;D;D;P	.|0.81914	.|0.485;0.961;0.995;0.901	T|T	0.69273|0.69273	-0.5188|-0.5188	5|10	.|0.62326	.|D	.|0.03	.|.	11.2728|11.2728	0.49148|0.49148	0.0:0.8456:0.0:0.1544|0.0:0.8456:0.0:0.1544	.|.	.|167;376;755;167	.|B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4	.|.;SHAN2_HUMAN;.;.	S|D	166|167;166;44;756;376;390;386;166;167;167	.|ENSP00000399423:E167D;ENSP00000386491:E166D;ENSP00000402944:E44D;ENSP00000345193:E756D;ENSP00000394536:E376D;ENSP00000294018:E386D;ENSP00000387324:E166D;ENSP00000394939:E167D;ENSP00000349694:E167D	.|ENSP00000294018:E386D	A|E	-|-	1|3	0|2	SHANK2|SHANK2	70025972|70025972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	1.622000|1.622000	0.36997|0.36997	0.410000|0.410000	0.25675|0.25675	0.462000|0.462000	0.41574|0.41574	GCT|GAG	SHANK2	-	NULL	ENSG00000162105		0.657	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0	12	0	C	NM_012309		70348324	-1			no_errors	ENST00000338508	ensembl	human	known	74_37	missense	8.41	97	9	SNP	1.000	A	A	70348324	C	A	70348324	3	1	25	1	0	0	0	0	1	0	0	0	14310	796	28	3	3316	3	SHANK2	11	70348324	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	4234073	70348324	64658192	119	6459											
XRRA1	143570	genome.wustl.edu	37	chr11	74638501	74638501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccattaaatgcgagatccaGttcctttagggctggaaacg	11	10	11	9	2	0	1	0	0	0	1	2	3	2	2	3	2	2	2	3	2	4	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:74638501G>C	ENST00000340360.6	-	7	764	c.433C>G	c.(433-435)Ctg>Gtg	p.L145V	XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.L145V|XRRA1_ENST00000533598.1_5'UTR	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GCGAGATCCAGTTCCTTTAGG	0.393																																																	0													96	90	92					11																	74638501		1862	4093	5955	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.433C>G	11.37:g.74638501G>C	ENSP00000339918:p.Leu145Val			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L145V	ENST00000340360.6	37	c.433	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575496	0.65878	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;D;T	0.84070	0.34;-1.8;-0.86	5.57	2.5	0.30297	.	0.000000	0.64402	D	0.000008	D	0.88295	0.6398	M	0.76002	2.32	0.36198	D	0.850553	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.88614	0.3158	10	0.62326	D	0.03	-11.0837	7.5059	0.27545	0.3034:0.0:0.6966:0.0	.	145;145	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	V	145;145;145;145;153	ENSP00000339918:L145V;ENSP00000435838:L145V;ENSP00000437334:L153V	ENSP00000339918:L145V	L	-	1	2	XRRA1	74316149	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.942000	0.29017	0.612000	0.30071	0.650000	0.86243	CTG	XRRA1	-	NULL	ENSG00000166435		0.393	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0	57	0	G	NM_182969		74638501	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	25.93	40	14	SNP	1.000	C	C	74638501	G	C	74638501	3	2	25	1	0	0	0	0	1	0	0	0	17510	1020	36	5	1997	5	XRRA1	11	74638501	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	4290177	74638501	60368015	120	6460											
RDX	5962	genome.wustl.edu	37	chr11	110104066	110104066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgataattcagcactagcttCagcattattctcatcgtgtt	10	16	6	9	1	3	1	3	1	1	0	5	1	3	1	0	0	3	4	0	0	3	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:110104066C>G	ENST00000343115.4	-	13	1802	c.1483G>C	c.(1483-1485)Gaa>Caa	p.E495Q	RDX_ENST00000528900.1_Missense_Mutation_p.E148Q|RDX_ENST00000405097.1_Missense_Mutation_p.E495Q|RDX_ENST00000528498.1_Missense_Mutation_p.E495Q|RDX_ENST00000544551.1_Missense_Mutation_p.E359Q|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	495	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GCACTAGCTTCAGCATTATTC	0.438																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													247	225	232					11																	110104066		2201	4298	6499	SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1483G>C	11.37:g.110104066C>G	ENSP00000342830:p.Glu495Gln		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E495Q	ENST00000343115.4	37	c.1483	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961063	0.53400	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	6.01	5.1	0.69264	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.109000	0.64402	N	0.000007	D	0.84938	0.5583	L	0.58583	1.82	0.50313	D	0.999864	B;P;B;B	0.39424	0.066;0.673;0.046;0.006	B;B;B;B	0.42522	0.071;0.39;0.038;0.021	T	0.82790	-0.0283	10	0.26408	T	0.33	.	17.1355	0.86738	0.0:0.8664:0.1335:0.0	.	359;495;495;148	F5H1A7;A7YIJ8;P35241;A7YIK3	.;.;RADI_HUMAN;.	Q	495;495;148;495;359;165	ENSP00000432112:E495Q;ENSP00000384136:E495Q;ENSP00000433580:E148Q;ENSP00000342830:E495Q;ENSP00000445826:E359Q;ENSP00000434788:E165Q	ENSP00000342830:E495Q	E	-	1	0	RDX	109609276	0.977000	0.34250	0.904000	0.35570	0.922000	0.55478	2.410000	0.44592	1.543000	0.49345	0.650000	0.86243	GAA	RDX	-	pirsf_ERM,pfam_ERM_C_dom,superfamily_Moesin_tail	ENSG00000137710		0.438	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	-	0	99	0	C	NM_002906		110104066	-1	tier1	-	no_errors	ENST00000530749	ensembl	human	known	74_37	missense	18.27	85	19	SNP	0.996	G	G	110104066	C	G	110104066	3	3	25	1	0	0	0	0	1	0	0	0	13243	835	29	5	276	5	RDX	11	110104066	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	35465565	110104066	24902450	121	6461											
MLL	4297	genome.wustl.edu	37	chr11	118380790	118380790	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggacttgtttttgaaatTtccagtgatgatggctttca	11	16	9	5	0	1	3	1	3	0	0	2	4	2	4	1	2	0	2	1	2	2	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:118380790T>G	ENST00000389506.5	+	30	11019	c.11019T>G	c.(11017-11019)atT>atG	p.I3673M	KMT2A_ENST00000354520.4_Missense_Mutation_p.I3635M|RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.I3676M			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3673	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTTTTGAAATTTCCAGTGATG	0.423																																																	0													123	123	123					11																	118380790		2200	4295	6495	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11019T>G	11.37:g.118380790T>G	ENSP00000374157:p.Ile3673Met		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.I3673M	ENST00000389506.5	37	c.11019	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718971	0.48622	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.56941	0.43;0.43;0.43	5.87	3.44	0.39384	FY-rich, C-terminal (1);FY-rich, C-terminal subgroup (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.79258	2.445	0.49213	D	0.999763	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68610	-0.5363	10	0.87932	D	0	.	3.3904	0.07287	0.333:0.128:0.0:0.5389	.	3676;3673	E9PQG7;Q03164	.;MLL1_HUMAN	M	3676;3673;3635;2583	ENSP00000436786:I3676M;ENSP00000374157:I3673M;ENSP00000346516:I3635M	ENSP00000346516:I3635M	I	+	3	3	MLL	117886000	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.074000	0.41529	2.247000	0.74100	0.477000	0.44152	ATT	KMT2A	-	pfam_FYrich_C,smart_FYrich_C,pirsf_MeTrfase_trithorax	ENSG00000118058		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	27	0	T	NM_005933		118380790	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	G	G	118380790	T	G	118380790	3	3	25	1	0	0	0	0	1	0	0	0	9658	1829	64	4	11137	4	MLL	11	118380790	Missense_Mutation	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	8276724	118380790	16625726	122	6462											
PVRL1	5818	genome.wustl.edu	37	chr11	119549379	119549379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgggtgatcttcacgCtgggaagcgggttggcaaag	8	9	16	8	2	2	2	1	2	1	0	2	3	2	3	1	4	1	3	1	4	2	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:119549379C>A	ENST00000264025.3	-	2	706	c.176G>T	c.(175-177)aGc>aTc	p.S59I	PVRL1_ENST00000340882.2_Missense_Mutation_p.S59I|PVRL1_ENST00000341398.2_Missense_Mutation_p.S59I|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	59	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GATCTTCACGCTGGGAAGCGG	0.597																																																	0													91	71	78					11																	119549379		2199	4295	6494	SO:0001583	missense	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.176G>T	11.37:g.119549379C>A	ENSP00000264025:p.Ser59Ile		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S59I	ENST00000264025.3	37	c.176	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060356	0.36373	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	D;D;D	0.94280	-3.39;-3.39;-3.39	5.55	-4.06	0.03986	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.707152	0.15558	N	0.256089	D	0.84750	0.5541	L	0.47190	1.495	0.09310	N	0.999999	B;B;B	0.14805	0.003;0.002;0.011	B;B;B	0.09377	0.001;0.002;0.004	T	0.69884	-0.5024	9	.	.	.	.	1.0129	0.01501	0.1625:0.269:0.2594:0.3091	.	59;59;59	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	I	59	ENSP00000344974:S59I;ENSP00000264025:S59I;ENSP00000345289:S59I	.	S	-	2	0	PVRL1	119054589	0.003000	0.15002	0.051000	0.19133	0.912000	0.54170	-0.020000	0.12525	-0.185000	0.10550	0.462000	0.41574	AGC	PVRL1	-	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000110400		0.597	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1		0	30	0	C			119549379	-1			no_errors	ENST00000264025	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	A	A	119549379	C	A	119549379	3	1	25	1	0	0	0	0	1	0	0	0	12884	797	28	3	1843	3	PVRL1	11	119549379	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	1168589	119549379	15457137	123	6463											
SORL1	6653	genome.wustl.edu	37	chr11	121491881	121491881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaagttggagcctggcGggaaataccacatcattgtc	12	10	10	9	1	1	0	1	0	0	0	2	2	1	2	2	3	3	1	2	3	4	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:121491881G>T	ENST00000260197.7	+	44	6127	c.5998G>T	c.(5998-6000)Ggg>Tgg	p.G2000W	SORL1_ENST00000525532.1_Missense_Mutation_p.G944W|SORL1_ENST00000532694.1_Missense_Mutation_p.G846W|SORL1_ENST00000534286.1_Missense_Mutation_p.G910W|SORL1_ENST00000527934.1_Missense_Mutation_p.G615W	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2000	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGAGCCTGGCGGGAAATACCA	0.443																																																	0													106	100	102					11																	121491881		2202	4299	6501	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5998G>T	11.37:g.121491881G>T	ENSP00000260197:p.Gly2000Trp		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G2000W	ENST00000260197.7	37	c.5998	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852671	0.71719	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.117975	0.56097	D	0.000030	T	0.65491	0.2696	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68239	-0.5461	10	0.87932	D	0	.	19.3897	0.94576	0.0:0.0:1.0:0.0	.	615;2000	E9PKB0;Q92673	.;SORL_HUMAN	W	2000;944;846;910;615	ENSP00000260197:G2000W;ENSP00000434634:G944W;ENSP00000432131:G846W;ENSP00000436447:G910W;ENSP00000435405:G615W	ENSP00000260197:G2000W	G	+	1	0	SORL1	120997091	1.000000	0.71417	0.959000	0.39883	0.388000	0.30384	9.334000	0.96470	2.578000	0.87016	0.655000	0.94253	GGG	SORL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000137642		0.443	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2		0	19	0	G	NM_003105		121491881	1			no_errors	ENST00000260197	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	121491881	G	T	121491881	3	4	25	1	0	0	0	0	1	0	0	0	14979	1116	39	2	6172	2	SORL1	11	121491881	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	1942502	121491881	13514635	124	6464											
GLB1L3	112937	genome.wustl.edu	37	chr11	134179627	134179627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacggggccacatatttcGggaagcactcgggcattgtc	9	9	13	10	3	0	1	0	1	0	0	3	2	0	2	1	4	2	2	1	4	3	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr11:134179627G>A	ENST00000431683.2	+	11	1069	c.1069G>A	c.(1069-1071)Ggg>Agg	p.G357R		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	357					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CACATATTTCGGGAAGCACTC	0.498																																																	0													73	71	71					11																	134179627		1930	4127	6057	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1069G>A	11.37:g.134179627G>A	ENSP00000396615:p.Gly357Arg		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.G357R	ENST00000431683.2	37	c.1069	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911095	0.33721	.	.	ENSG00000166105	ENST00000431683	D	0.98012	-4.66	4.76	-2.59	0.06209	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.446850	0.04441	N	0.370879	D	0.96947	0.9003	M	0.81614	2.55	0.09310	N	1	D;P	0.57899	0.981;0.931	P;P	0.51999	0.687;0.625	D	0.89632	0.3856	10	0.21014	T	0.42	.	1.0476	0.01573	0.2694:0.2803:0.3073:0.143	.	18;357	Q8NCI6-2;Q8NCI6	.;GLBL3_HUMAN	R	357	ENSP00000396615:G357R	ENSP00000396615:G357R	G	+	1	0	GLB1L3	133684837	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.123000	0.15708	-0.581000	0.05937	0.455000	0.32223	GGG	GLB1L3	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF	ENSG00000166105		0.498	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0	23	0	G	NM_138416		134179627	1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.000	A	A	134179627	G	A	134179627	3	1	25	1	0	0	0	0	1	0	0	0	6456	1116	39	1	1111	1	GLB1L3	11	134179627	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	12687746	134179627	826889	125	6465											
ANO2	57101	genome.wustl.edu	37	chr12	5915251	5915251	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatcgtcctctggactatcGtattcaccctgtggagaaaa	11	12	8	10	2	2	1	1	0	1	1	5	3	3	2	2	2	0	1	2	2	5	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:5915251G>T	ENST00000356134.5	-	10	1019	c.948C>A	c.(946-948)taC>taA	p.Y316*	ANO2_ENST00000546188.1_Nonsense_Mutation_p.Y316*|ANO2_ENST00000327087.8_Nonsense_Mutation_p.Y315*	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	320					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.Y316Y(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGACTATCGTATTCACCCT	0.458																																																	1	Substitution - coding silent(1)	stomach(1)											81	81	81					12																	5915251		1983	4158	6141	SO:0001587	stop_gained	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.948C>A	12.37:g.5915251G>T	ENSP00000348453:p.Tyr316*		C4N787|Q9H847	Nonsense_Mutation	SNP	pfam_Anoctamin	p.Y316*	ENST00000356134.5	37	c.948		12	.	.	.	.	.	.	.	.	.	.	G	18.44	3.623494	0.66901	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	.	.	.	5.4	-0.956	0.10353	.	0.187544	0.48286	D	0.000200	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0835	0.36567	0.6435:0.0:0.3565:0.0	.	.	.	.	X	315;316;316;320	.	ENSP00000314048:Y315X	Y	-	3	2	ANO2	5785512	0.998000	0.40836	0.802000	0.32245	0.019000	0.09904	0.363000	0.20301	-0.165000	0.10908	-0.880000	0.02959	TAC	ANO2	-	NULL	ENSG00000047617		0.458	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4		0	27	0	G	NM_020373		5915251	-1			no_errors	ENST00000356134	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.909	T	T	5915251	G	T	5915251	4	4	25	1	0	0	0	0	0	1	0	0	697	1140	40	2	2123	2	ANO2	12	5915251	Nonsense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		5915251	127936644	126	6466											
PZP	5858	genome.wustl.edu	37	chr12	9354962	9354962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccacggagacaacacggaAtcttactggaaaagtagttc	15	8	9	9	2	1	1	0	0	1	1	3	4	2	3	1	3	2	2	1	3	6	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:9354962A>G	ENST00000261336.2	-	4	461	c.433T>C	c.(433-435)Ttc>Ctc	p.F145L	PZP_ENST00000381997.2_Missense_Mutation_p.F14L	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	145					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAACACGGAATCTTACTGGA	0.443																																					Melanoma(125;1402 1695 4685 34487 38571)												0													88	80	82					12																	9354962		2203	4300	6503	SO:0001583	missense	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.433T>C	12.37:g.9354962A>G	ENSP00000261336:p.Phe145Leu		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.F145L	ENST00000261336.2	37	c.433	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856139	0.51376	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.73681	-0.77;-0.77	2.44	2.44	0.29823	Alpha-2-macroglobulin, N-terminal (1);	0.000000	0.56097	U	0.000038	T	0.79329	0.4427	M	0.74467	2.265	0.09310	N	1	P;D	0.54207	0.705;0.965	B;P	0.57057	0.196;0.812	T	0.68988	-0.5264	10	0.87932	D	0	.	6.7838	0.23662	1.0:0.0:0.0:0.0	.	14;145	P20742-2;P20742	.;PZP_HUMAN	L	145;14	ENSP00000261336:F145L;ENSP00000371427:F14L	ENSP00000261336:F145L	F	-	1	0	PZP	9246229	0.118000	0.22208	0.003000	0.11579	0.224000	0.24922	3.054000	0.49908	1.389000	0.46526	0.377000	0.23210	TTC	PZP	-	pfam_A2M_N	ENSG00000126838		0.443	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	-	0	57	0	A	NM_002864		9354962	-1	tier1	-	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	17.74	51	11	SNP	0.004	G	G	9354962	A	G	9354962	3	3	25	1	0	0	0	0	1	0	0	0	12914	101	4	4	4147	4	PZP	12	9354962	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	3439711	9354962	124496933	127	6467											
TUBA1C	84790	genome.wustl.edu	37	chr12	49666495	49666495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcccctgtcatctctgctGagaaagcctaccacgaacag	11	8	8	14	1	2	1	1	1	1	1	3	3	2	1	4	0	5	1	4	0	3	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:49666495G>A	ENST00000301072.6	+	4	1110	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.E349K	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	279					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CATCTCTGCTGAGAAAGCCTA	0.527																																																	0													22	72	55					12																	49666495		2096	4273	6369	SO:0001583	missense	0			BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"Tubulins"	20768	protein-coding gene	gene with protein product			"tubulin, alpha 6"	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.835G>A	12.37:g.49666495G>A	ENSP00000301072:p.Glu279Lys			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E279K	ENST00000301072.6	37	c.835	CCDS8782.1	12	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886326	0.72410	.	.	ENSG00000167553	ENST00000541364;ENST00000301072;ENST00000321665	D;D	0.84516	-1.86;-1.86	5.12	5.12	0.69794	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91466	0.7306	M	0.73372	2.23	0.80722	D	1	D;D	0.67145	0.961;0.996	P;D	0.66602	0.815;0.945	D	0.92073	0.5666	10	0.87932	D	0	.	18.2765	0.90085	0.0:0.0:1.0:0.0	.	349;279	F5H5D3;Q9BQE3	.;TBA1C_HUMAN	K	349;279;149	ENSP00000443475:E349K;ENSP00000301072:E279K	ENSP00000301072:E279K	E	+	1	0	TUBA1C	47952762	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.286000	0.95898	2.777000	0.95525	0.549000	0.68633	GAG	TUBA1C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000167553		0.527	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1C	HGNC	protein_coding	OTTHUMT00000404424.1	-	0	62	0	G	NM_032704		49666495	1	tier1	-	no_errors	ENST00000301072	ensembl	human	known	74_37	missense	23.73	90	28	SNP	1.000	A	A	49666495	G	A	49666495	3	1	25	1	0	0	0	0	1	0	0	0	16794	1291	45	3	849	3	TUBA1C	12	49666495	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	40311533	49666495	84185400	128	6468											
KRT1	3848	genome.wustl.edu	37	chr12	53069189	53069190	+	In_Frame_Ins	INS	-	-	GCC																															ccggagccgtagctgccatgINSgccgccgccgccacctccag																										TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:53069189_53069190insGCC	ENST00000252244.3	-	9	1780_1781	c.1722_1723insGGC	c.(1720-1725)ggccat>ggcGGCcat	p.574_575insG		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	574	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tagctgccatggccgccgccgc	0.748																																																	0										21,2759		2,17,1371						-0.6	0.1		dbSNP_130	5	28,5852		1,26,2913	no	coding	KRT1	NM_006121.3		3,43,4284	A1A1,A1R,RR		0.4762,0.7554,0.5658				49,8611				SO:0001652	inframe_insertion	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1720_1722dupGGC	12.37:g.53069196_53069198dupGCC	ENSP00000252244:p.Gly575_Gly576dup		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Ins	INS	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.574in_frame_insG	ENST00000252244.3	37	c.1723_1722	CCDS8836.1	12																																																																																			KRT1	-	NULL	ENSG00000167768		0.748	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1		0	37	0	-	NM_006121		53069190	-1	tier1		no_errors	ENST00000252244	ensembl	human	known	74_37	in_frame_ins	18.18	27	6	INS	0.358:0.643	GCC	GCC	53069190	-	GCC	53069189	7	5	25	1	0	1	1	0	0	0	0	0	8474	1348	47	0	215	0	KRT1	12	53069189	In_Frame_Ins	INS	-	TCGA-IG-A51D-01A-11D-A27G-09	3402694	53069189	80782706	129	6469											
PDE1B	5153	genome.wustl.edu	37	chr12	54967206	54967206	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacatcagctctgttttcCgattgatgcaggatgatgag	10	12	10	9	1	2	3	1	3	1	0	3	5	3	4	2	1	2	3	2	1	0	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:54967206C>T	ENST00000243052.3	+	9	1340	c.904C>T	c.(904-906)Cga>Tga	p.R302*	PDE1B_ENST00000538346.1_Nonsense_Mutation_p.R261*|PDE1B_ENST00000550620.1_Nonsense_Mutation_p.R282*|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	302	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTCTGTTTTCCGATTGATGCA	0.468																																																	0													153	134	140					12																	54967206		2203	4300	6503	SO:0001587	stop_gained	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.904C>T	12.37:g.54967206C>T	ENSP00000243052:p.Arg302*		Q92825|Q96KP3	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.R302*	ENST00000243052.3	37	c.904	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	27.6	4.842157	0.91197	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	.	.	.	4.59	4.59	0.56863	.	0.079812	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.301	0.73952	0.0:1.0:0.0:0.0	.	.	.	.	X	302;261;282	.	ENSP00000243052:R302X	R	+	1	2	PDE1B	53253473	1.000000	0.71417	0.971000	0.41717	0.404000	0.30871	2.829000	0.48128	2.543000	0.85770	0.650000	0.86243	CGA	PDE1B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	ENSG00000123360		0.468	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	-	0	30	0	C			54967206	1	tier1	-	no_errors	ENST00000243052	ensembl	human	known	74_37	nonsense	36.11	23	13	SNP	1.000	T	T	54967206	C	T	54967206	4	4	25	1	0	0	0	0	0	1	0	0	11673	644	23	1	991	1	PDE1B	12	54967206	Nonsense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	1898017	54967206	78884689	130	6470											
GDF11	10220	genome.wustl.edu	37	chr12	56142696	56142696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagagcaactggggcatcGagatcaacgcctttgatccc	11	7	10	13	2	1	3	1	1	0	2	3	4	2	3	2	2	3	2	2	2	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:56142696G>A	ENST00000257868.5	+	2	809	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	258					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)		p.E258K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGGGGCATCGAGATCAACGC	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)											54	36	42					12																	56142696		2203	4300	6503	SO:0001583	missense	0			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.772G>A	12.37:g.56142696G>A	ENSP00000257868:p.Glu258Lys		Q9UID1|Q9UID2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E258K	ENST00000257868.5	37	c.772	CCDS8891.1	12	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898364	0.72639	.	.	ENSG00000135414	ENST00000257868	T	0.67171	-0.25	4.32	4.32	0.51571	Transforming growth factor-beta, N-terminal (1);	0.057035	0.64402	D	0.000002	T	0.64538	0.2607	M	0.72353	2.195	0.58432	D	0.999994	P	0.36412	0.552	B	0.34652	0.187	T	0.66674	-0.5864	10	0.34782	T	0.22	-16.3676	14.7037	0.69174	0.0:0.0:1.0:0.0	.	258	O95390	GDF11_HUMAN	K	258	ENSP00000257868:E258K	ENSP00000257868:E258K	E	+	1	0	GDF11	54428963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.427000	0.82271	0.555000	0.69702	GAG	GDF11	-	pfam_TGF-b_N	ENSG00000135414		0.612	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF11	HGNC	protein_coding	OTTHUMT00000407842.3		0	8	0	G			56142696	1			no_errors	ENST00000257868	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	A	A	56142696	G	A	56142696	3	1	25	1	0	0	0	0	1	0	0	0	6338	1059	37	1	778	1	GDF11	12	56142696	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	1175490	56142696	77709199	131	6471											
STAT2	6773	genome.wustl.edu	37	chr12	56739972	56739972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcaggtatttcctcCgttcctggagattaactgtg	6	17	10	8	1	1	1	1	0	0	1	4	2	4	1	3	2	1	3	3	2	2	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:56739972C>T	ENST00000314128.4	-	22	2083	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	STAT2_ENST00000557235.1_Missense_Mutation_p.R683Q|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	687					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTATTTCCTCCGTTCCTGGAG	0.458																																																	0													183	161	169					12																	56739972		2203	4300	6503	SO:0001583	missense	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2060G>A	12.37:g.56739972C>T	ENSP00000315768:p.Arg687Gln		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.R687Q	ENST00000314128.4	37	c.2060	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	C	8.575	0.880961	0.17467	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.85861	-2.04;-2.04	5.71	-9.95	0.00446	SH2 motif (1);	1.645410	0.03030	N	0.151962	T	0.76615	0.4012	L	0.31526	0.94	0.19575	N	0.999965	B;B	0.13594	0.006;0.008	B;B	0.13407	0.009;0.002	T	0.62812	-0.6775	10	0.11485	T	0.65	-1.8472	20.2921	0.98543	0.0:0.1859:0.0:0.8141	.	683;687	G3V2M6;P52630	.;STAT2_HUMAN	Q	687;683	ENSP00000315768:R687Q;ENSP00000450751:R683Q	ENSP00000315768:R687Q	R	-	2	0	STAT2	55026239	0.001000	0.12720	0.124000	0.21820	0.986000	0.74619	-1.862000	0.01653	-2.242000	0.00708	0.561000	0.74099	CGG	STAT2	-	NULL	ENSG00000170581		0.458	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1		0	19	0	C	NM_005419		56739972	-1			no_errors	ENST00000314128	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.022	T	T	56739972	C	T	56739972	3	4	25	1	0	0	0	0	1	0	0	0	15312	652	23	1	507	1	STAT2	12	56739972	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	597276	56739972	77111923	132	6472											
TMBIM4	51643	genome.wustl.edu	37	chr12	66531894	66531894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgaatccacagaaaagaAgggctcctgcagcggctaag	14	6	12	9	1	0	4	0	2	0	2	2	4	2	4	2	2	2	3	2	2	5	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:66531894A>G	ENST00000358230.3	-	7	683	c.563T>C	c.(562-564)cTt>cCt	p.L188P	TMBIM4_ENST00000286424.7_Missense_Mutation_p.L235P|TMBIM4_ENST00000542724.1_Missense_Mutation_p.L157P|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000539652.1_Silent_p.P160P|TMBIM4_ENST00000556010.1_Silent_p.P160P|TMBIM4_ENST00000544599.1_Missense_Mutation_p.L11P	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	188					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACAGAAAAGAAGGGCTCCTGC	0.378																																																	0													96	92	93					12																	66531894		1895	4121	6016	SO:0001583	missense	0			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.563T>C	12.37:g.66531894A>G	ENSP00000350965:p.Leu188Pro		Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.L188P	ENST00000358230.3	37	c.563	CCDS41805.1	12	.	.	.	.	.	.	.	.	.	.	A	24.4	4.521912	0.85600	.	.	ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	H	0.95917	3.74	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.76071	0.987;0.983;0.981	D	0.87513	0.2441	9	.	.	.	-21.3592	16.8222	0.85835	1.0:0.0:0.0:0.0	.	235;157;188	G3XAA5;G3V1M2;Q9HC24	.;.;TMBI4_HUMAN	P	188;11;235;188;233;157	ENSP00000350965:L188P;ENSP00000444639:L11P;ENSP00000286424:L235P;ENSP00000441291:L157P	.	L	-	2	0	TMBIM4	64818161	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.222000	0.89777	2.371000	0.80710	0.533000	0.62120	CTT	TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.378	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2		0	23	0	A	NM_016056		66531894	-1			no_errors	ENST00000358230	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G	G	66531894	A	G	66531894	3	3	25	1	0	0	0	0	1	0	0	0	16029	72	3	4	157	4	TMBIM4	12	66531894	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	9791922	66531894	67320001	133	6473											
HELB	92797	genome.wustl.edu	37	chr12	66717794	66717794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagacttgtttttggaattGgtgataaaatttgttgtacc	10	18	10	3	0	0	2	0	1	0	1	0	3	0	3	1	2	1	4	1	2	5	9			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:66717794G>T	ENST00000247815.4	+	10	2388	c.2329G>T	c.(2329-2331)Ggt>Tgt	p.G777C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	777					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TTTTGGAATTGGTGATAAAAT	0.348																																																	0													141	155	150					12																	66717794		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2329G>T	12.37:g.66717794G>T	ENSP00000247815:p.Gly777Cys		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.G777C	ENST00000247815.4	37	c.2329	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464679	0.43736	.	.	ENSG00000127311	ENST00000247815	T	0.14516	2.5	5.2	5.2	0.72013	.	0.435239	0.23836	N	0.044093	T	0.47619	0.1455	H	0.94771	3.58	0.30865	N	0.733107	D	0.89917	1.0	D	0.83275	0.996	T	0.63211	-0.6688	9	.	.	.	-14.4828	12.1616	0.54107	0.0799:0.0:0.9201:0.0	.	777	Q8NG08	HELB_HUMAN	C	777	ENSP00000247815:G777C	.	G	+	1	0	HELB	65004061	0.981000	0.34729	0.976000	0.42696	0.202000	0.24057	3.483000	0.53194	2.567000	0.86603	0.655000	0.94253	GGT	HELB	-	superfamily_P-loop_NTPase	ENSG00000127311		0.348	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	-	0	37	0	G			66717794	1	tier1	-	no_errors	ENST00000247815	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.508	T	T	66717794	G	T	66717794	3	4	25	1	0	0	0	0	1	0	0	0	7072	1348	47	3	2367	3	HELB	12	66717794	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	185900	66717794	67134101	134	6474											
NAV3	89795	genome.wustl.edu	37	chr12	78225248	78225248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttatagaagccatgcctGttcttggggttgcctcaaaa	10	14	9	8	0	2	1	1	0	1	1	2	1	2	1	3	2	3	2	3	2	5	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:78225248G>C	ENST00000397909.2	+	1	180	c.7G>C	c.(7-9)Gtt>Ctt	p.V3L	NAV3_ENST00000228327.6_Missense_Mutation_p.V3L|NAV3_ENST00000266692.7_Missense_Mutation_p.V3L|NAV3_ENST00000536525.2_Missense_Mutation_p.V3L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	3						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCCATGCCTGTTCTTGGGGT	0.443										HNSCC(70;0.22)																																							0													193	193	193					12																	78225248		1859	4104	5963	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.7G>C	12.37:g.78225248G>C	ENSP00000381007:p.Val3Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.V3L	ENST00000397909.2	37	c.7		12	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500824	0.64298	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.60797	0.16;1.68;1.67;1.68;1.57	5.69	5.69	0.88448	Calponin homology domain (1);	.	.	.	.	T	0.65626	0.2709	N	0.19112	0.55	0.80722	D	1	D;D	0.61697	0.984;0.99	D;D	0.73380	0.956;0.98	T	0.68992	-0.5263	9	0.62326	D	0.03	-11.4444	19.8101	0.96543	0.0:0.0:1.0:0.0	.	3;3	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	L	3	ENSP00000446628:V3L;ENSP00000446132:V3L;ENSP00000381007:V3L;ENSP00000228327:V3L;ENSP00000266692:V3L	ENSP00000228327:V3L	V	+	1	0	NAV3	76749379	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.932000	0.87634	2.696000	0.92011	0.655000	0.94253	GTT	NAV3	-	superfamily_CH-domain	ENSG00000067798		0.443	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	20	0	G	NM_001024383		78225248	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	C	C	78225248	G	C	78225248	3	2	25	1	0	0	0	0	1	0	0	0	10223	1377	48	5	9	5	NAV3	12	78225248	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	11507454	78225248	55626647	135	6475											
UTP20	27340	genome.wustl.edu	37	chr12	101683933	101683933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctctgataaaaacgcaCttttcaatttaatgtttctt	12	17	5	7	1	3	1	1	1	2	0	4	1	3	1	0	1	1	2	0	1	5	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:101683933C>A	ENST00000261637.4	+	7	790	c.616C>A	c.(616-618)Ctt>Att	p.L206I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	206					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TAAAAACGCACTTTTCAATTT	0.289																																																	0													47	52	50					12																	101683933		2202	4300	6502	SO:0001583	missense	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.616C>A	12.37:g.101683933C>A	ENSP00000261637:p.Leu206Ile		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L206I	ENST00000261637.4	37	c.616	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582616	0.86748	.	.	ENSG00000120800	ENST00000261637	T	0.66460	-0.21	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79598	0.4473	M	0.69823	2.125	0.80722	D	1	D	0.69078	0.997	D	0.63033	0.91	T	0.73799	-0.3869	10	0.20046	T	0.44	-17.5105	20.0716	0.97726	0.0:1.0:0.0:0.0	.	206	O75691	UTP20_HUMAN	I	206	ENSP00000261637:L206I	ENSP00000261637:L206I	L	+	1	0	UTP20	100208064	0.979000	0.34478	0.981000	0.43875	0.816000	0.46133	2.561000	0.45905	2.741000	0.93983	0.585000	0.79938	CTT	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.289	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0	34	0	C	NM_014503		101683933	1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	A	A	101683933	C	A	101683933	3	1	25	1	0	0	0	0	1	0	0	0	17148	565	20	3	642	3	UTP20	12	101683933	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	23458685	101683933	32167962	136	6476											
ALDH1L2	160428	genome.wustl.edu	37	chr12	105459083	105459083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagctccagggactttatCatgacctcgaatccagttat	11	11	7	12	1	1	1	1	1	0	0	4	3	3	2	4	1	1	2	4	1	4	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:105459083C>G	ENST00000258494.9	-	6	888	c.748G>C	c.(748-750)Gat>Cat	p.D250H	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.D250H	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	250					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GGGACTTTATCATGACCTCGA	0.473																																																	0													100	90	93					12																	105459083		2203	4300	6503	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.748G>C	12.37:g.105459083C>G	ENSP00000258494:p.Asp250His		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.D250H	ENST00000258494.9	37	c.748	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827602	0.90955	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.46819	0.86;0.86	5.71	5.71	0.89125	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73513	0.3596	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76575	-0.2909	10	0.87932	D	0	.	19.8506	0.96738	0.0:1.0:0.0:0.0	.	250	Q3SY69	AL1L2_HUMAN	H	250	ENSP00000258494:D250H;ENSP00000389608:D250H	ENSP00000258494:D250H	D	-	1	0	ALDH1L2	103983213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.415000	0.80131	2.686000	0.91538	0.655000	0.94253	GAT	ALDH1L2	-	pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH	ENSG00000136010		0.473	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	-	0	19	0	C	XM_090294		105459083	-1	tier1	-	no_errors	ENST00000258494	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	G	G	105459083	C	G	105459083	3	3	25	1	0	0	0	0	1	0	0	0	495	826	29	5	2095	5	ALDH1L2	12	105459083	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3775150	105459083	28392812	137	6477											
C12orf51	283450	genome.wustl.edu	37	chr12	112654172	112654172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatagtgcacggctcggccGttgctatgaaaaatacaaag	13	10	10	8	3	0	1	0	1	0	0	1	1	0	1	1	2	3	4	1	2	7	5	rs372763829		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:112654172G>A	ENST00000430131.2	-	47	7268	c.6123C>T	c.(6121-6123)aaC>aaT	p.N2041N	HECTD4_ENST00000550722.1_Silent_p.N2317N|HECTD4_ENST00000377560.5_Silent_p.N2291N			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2041					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CGGCTCGGCCGTTGCTATGAA	0.517																																																	0								G		0,3706		0,0,1853	19	20	20		6873	-2.8	1	12		20	1,8079		0,1,4039	no	coding-synonymous	C12orf51	NM_001109662.2		0,1,5892	AA,AG,GG		0.0124,0.0,0.0085		2291/4247	112654172	1,11785	1853	4040	5893	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6123C>T	12.37:g.112654172G>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.N2291	ENST00000430131.2	37	c.6873		12	.	.	.	.	.	.	.	.	.	.	G	0.160	-1.082255	0.01888	0.0	1.24E-4	ENSG00000173064	ENST00000550968	.	.	.	5.65	-2.84	0.05751	.	.	.	.	.	T	0.62356	0.2421	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59010	-0.7534	4	.	.	.	.	12.6568	0.56791	0.6265:0.0:0.3735:0.0	.	.	.	.	M	208	.	.	T	-	2	0	C12orf51	111138555	0.999000	0.42202	0.965000	0.40720	0.003000	0.03518	0.914000	0.28624	-0.754000	0.04715	-2.173000	0.00322	ACG	HECTD4	-	superfamily_ConA-like_lec_gl_sf	ENSG00000173064		0.517	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	16	0	G	NM_173813		112654172	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.991	A	A	112654172	G	A	112654172	2	1	25	1	0	0	0	0	0	0	0	1	1701	1136	40	1		1	C12orf51	12	112654172	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	7195089	112654172	21197723	138	6478											
RBM19	9904	genome.wustl.edu	37	chr12	114400104	114400104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttctgggcctcttcctcgGacttgaagccaataaaacca	10	10	7	14	1	2	1	0	1	2	0	4	2	3	2	5	2	2	0	5	2	4	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:114400104G>A	ENST00000545145.2	-	2	230	c.152C>T	c.(151-153)tCc>tTc	p.S51F	RBM19_ENST00000392561.3_Missense_Mutation_p.S51F|RBM19_ENST00000261741.5_Missense_Mutation_p.S51F	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	51	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CTCTTCCTCGGACTTGAAGCC	0.527																																																	0													141	118	125					12																	114400104		2203	4300	6503	SO:0001583	missense	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.152C>T	12.37:g.114400104G>A	ENSP00000442053:p.Ser51Phe		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.S51F	ENST00000545145.2	37	c.152	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043243	0.75732	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.77620	-1.11;-1.11;-1.11	5.07	5.07	0.68467	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.062767	0.64402	D	0.000003	D	0.88209	0.6375	M	0.80847	2.515	0.58432	D	0.999999	D	0.60160	0.987	D	0.66497	0.944	D	0.89078	0.3474	10	0.59425	D	0.04	-21.2518	18.649	0.91423	0.0:0.0:1.0:0.0	.	51	Q9Y4C8	RBM19_HUMAN	F	51	ENSP00000442053:S51F;ENSP00000376344:S51F;ENSP00000261741:S51F	ENSP00000261741:S51F	S	-	2	0	RBM19	112884487	1.000000	0.71417	0.934000	0.37439	0.485000	0.33311	7.286000	0.78671	2.631000	0.89168	0.585000	0.79938	TCC	RBM19	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	-	0	43	0	G	NM_016196		114400104	-1	tier1	-	no_errors	ENST00000261741	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	A	A	114400104	G	A	114400104	3	1	25	1	0	0	0	0	1	0	0	0	13166	1174	41	3	2822	3	RBM19	12	114400104	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	1745932	114400104	19451791	139	6479											
CAMKK2	10645	genome.wustl.edu	37	chr12	121691134	121691134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgccatgaaggcgggcGtgcccacggtgttggagagg	6	6	20	9	4	0	2	0	1	0	1	0	3	0	2	2	6	2	1	2	6	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:121691134G>A	ENST00000324774.5	-	10	1877	c.1049C>T	c.(1048-1050)aCg>aTg	p.T350M	CAMKK2_ENST00000404169.3_Missense_Mutation_p.T350M|CAMKK2_ENST00000392473.2_Missense_Mutation_p.T350M|CAMKK2_ENST00000412367.2_Missense_Mutation_p.T350M|CAMKK2_ENST00000402834.4_Missense_Mutation_p.T350M|CAMKK2_ENST00000347034.2_Missense_Mutation_p.T350M|CAMKK2_ENST00000545538.1_Missense_Mutation_p.T137M|CAMKK2_ENST00000538733.1_Missense_Mutation_p.T350M|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000337174.3_Missense_Mutation_p.T350M|CAMKK2_ENST00000446440.2_Missense_Mutation_p.T350M|CAMKK2_ENST00000392474.2_Missense_Mutation_p.T350M	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	350	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)	p.T350M(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAGGCGGGCGTGCCCACGGT	0.577																																																	1	Substitution - Missense(1)	liver(1)											181	127	145					12																	121691134		2203	4300	6503	SO:0001583	missense	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1049C>T	12.37:g.121691134G>A	ENSP00000312741:p.Thr350Met		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T350M	ENST00000324774.5	37	c.1049	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947233	0.92593	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;0.06;-1.05;-1.05;-1.05;-1.05	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92662	0.7668	H	0.97564	4.03	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998;0.999;0.999;0.998	D	0.95112	0.8239	10	0.87932	D	0	0.0958	18.062	0.89380	0.0:0.0:1.0:0.0	.	350;350;350;137;350;350;350;350	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	M	350;350;350;350;350;137;350;350;333;350;350	ENSP00000376266:T350M;ENSP00000321230:T350M;ENSP00000445944:T350M;ENSP00000336634:T350M;ENSP00000312741:T350M;ENSP00000441352:T137M;ENSP00000388368:T350M;ENSP00000384600:T350M;ENSP00000388273:T350M;ENSP00000376265:T350M	ENSP00000312741:T350M	T	-	2	0	CAMKK2	120175517	1.000000	0.71417	0.950000	0.38849	0.940000	0.58332	9.476000	0.97823	2.512000	0.84698	0.655000	0.94253	ACG	CAMKK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000110931		0.577	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	-	0	48	0	G	NM_172226		121691134	-1	tier1	-	no_errors	ENST00000324774	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	A	A	121691134	G	A	121691134	3	1	25	1	0	0	0	0	1	0	0	0	2614	1145	40	1	759	1	CAMKK2	12	121691134	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	7291030	121691134	12160761	140	6480											
GOLGA3	2802	genome.wustl.edu	37	chr12	133351871	133351871	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacaggtcttcctgggccatCtccaactcagacttgacgtt	8	11	9	13	1	3	2	1	1	2	1	5	3	4	2	3	2	1	1	3	2	1	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr12:133351871C>G	ENST00000450791.2	-	21	4182	c.3999G>C	c.(3997-3999)gaG>gaC	p.E1333D	GOLGA3_ENST00000456883.2_Missense_Mutation_p.E1333D|GOLGA3_ENST00000204726.3_Missense_Mutation_p.E1333D			Q08378	GOGA3_HUMAN	golgin A3	1333	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTGGGCCATCTCCAACTCAG	0.438																																																	0													92	84	86					12																	133351871		2203	4300	6503	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3999G>C	12.37:g.133351871C>G	ENSP00000410378:p.Glu1333Asp		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1333D	ENST00000450791.2	37	c.3999	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982179	0.18889	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.80653	-1.4;-1.4;1.62	6.07	2.95	0.34219	.	0.044343	0.85682	D	0.000000	T	0.68366	0.2993	L	0.31664	0.95	0.80722	D	1	B;B	0.25169	0.096;0.119	B;B	0.30179	0.083;0.112	T	0.62077	-0.6930	10	0.41790	T	0.15	.	6.9849	0.24723	0.1235:0.6018:0.0:0.2747	.	1333;1333	Q08378-2;Q08378	.;GOGA3_HUMAN	D	1333	ENSP00000204726:E1333D;ENSP00000410378:E1333D;ENSP00000409303:E1333D	ENSP00000204726:E1333D	E	-	3	2	GOLGA3	131861944	0.000000	0.05858	0.734000	0.30879	0.489000	0.33432	-0.174000	0.09839	0.873000	0.35799	0.655000	0.94253	GAG	GOLGA3	-	NULL	ENSG00000090615		0.438	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	59	0	C	NM_005895		133351871	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.167	G	G	133351871	C	G	133351871	3	3	25	1	0	0	0	0	1	0	0	0	6580	912	32	5	509	5	GOLGA3	12	133351871	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	11660737	133351871	500024	141	6481											
PABPC3	5042	genome.wustl.edu	37	chr13	25671027	25671027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgaaagtggaaaatccAaaggatttggatttgtaagc	15	10	11	5	1	0	1	0	1	0	0	1	5	1	4	2	3	1	1	2	3	5	3	rs78826513	byFrequency	TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr13:25671027A>G	ENST00000281589.3	+	1	728	c.691A>G	c.(691-693)Aaa>Gaa	p.K231E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	231	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGAAAATCCAAAGGATTTGG	0.418																																																	0													81	76	78					13																	25671027		2203	4300	6503	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.691A>G	13.37:g.25671027A>G	ENSP00000281589:p.Lys231Glu		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.K231E	ENST00000281589.3	37	c.691	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631048	0.46944	.	.	ENSG00000151846	ENST00000281589	T	0.08807	3.05	0.993	0.993	0.19825	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000136	T	0.27063	0.0663	M	0.90198	3.095	0.34162	D	0.668825	D	0.65815	0.995	D	0.67725	0.953	T	0.36553	-0.9743	10	0.87932	D	0	.	6.1165	0.20130	1.0:0.0:0.0:0.0	.	231	Q9H361	PABP3_HUMAN	E	231	ENSP00000281589:K231E	ENSP00000281589:K231E	K	+	1	0	PABPC3	24569027	0.998000	0.40836	0.994000	0.49952	0.967000	0.64934	2.374000	0.44274	0.692000	0.31613	0.374000	0.22700	AAA	PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.418	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	-	0	55	0	A	NM_030979		25671027	1	tier1	rs78826513	no_errors	ENST00000281589	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.999	G	G	25671027	A	G	25671027	3	3	25	1	0	0	0	0	1	0	0	0	11404	131	5	4	693	4	PABPC3	13	25671027	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09		25671027	89498851	142	6482											
N4BP2L2	10443	genome.wustl.edu	37	chr13	33017928	33017928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttagagaggtaattctttGgtgtgttgtctaattcaact	9	17	9	6	0	3	1	1	0	2	1	3	2	3	1	1	2	1	2	1	2	4	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr13:33017928G>A	ENST00000504114.1	-	6	792	c.701C>T	c.(700-702)cCa>cTa	p.P234L	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P249L|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.P234L			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTAATTCTTTGGTGTGTTGTC	0.338																																																	0													91	85	87					13																	33017928		1854	4094	5948	SO:0001583	missense	0			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.701C>T	13.37:g.33017928G>A	ENSP00000427477:p.Pro234Leu		A3KME8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P249L	ENST00000504114.1	37	c.746		13	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444111	0.63067	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.57273	0.41	5.34	5.34	0.76211	.	1.182480	0.05994	N	0.646497	T	0.70833	0.3269	M	0.62723	1.935	0.09310	N	1	D;D;D;D	0.69078	0.977;0.977;0.997;0.997	P;P;D;D	0.63957	0.656;0.656;0.92;0.92	T	0.57980	-0.7717	10	0.72032	D	0.01	-3.1909	12.8145	0.57657	0.0:0.2136:0.7863:0.0	.	234;249;132;132	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	L	132;161;234;234;249;678	ENSP00000423362:P678L	ENSP00000350104:P234L	P	-	2	0	N4BP2L2;RP11-298P3.4	31915928	0.010000	0.17322	0.013000	0.15412	0.027000	0.11550	1.154000	0.31688	2.484000	0.83849	0.655000	0.94253	CCA	N4BP2L2	-	NULL	ENSG00000244754		0.338	N4BP2L2-004	PUTATIVE	basic	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000361380.1	-	0	41	0	G	NM_014887		33017928	-1	tier1	-	no_errors	ENST00000399396	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.046	A	A	33017928	G	A	33017928	3	1	25	1	0	0	0	0	1	0	0	0	10150	1348	47	3	1524	3	N4BP2L2	13	33017928	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	7346901	33017928	82151950	143	6483											
MAB21L1	4081	genome.wustl.edu	37	chr13	36049877	36049877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgcttgagccaccagcgtCtgaaacctggaccggatttt	9	9	10	13	3	1	2	0	2	1	0	1	4	1	4	5	2	3	1	5	2	1	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr13:36049877C>T	ENST00000379919.4	-	1	955	c.399G>A	c.(397-399)caG>caA	p.Q133Q	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	133					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CCACCAGCGTCTGAAACCTGG	0.557																																																	0													49	50	50					13																	36049877		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.399G>A	13.37:g.36049877C>T			Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.Q133	ENST00000379919.4	37	c.399	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom	ENSG00000180660		0.557	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3		0	26	0	C	NM_005584		36049877	-1			no_errors	ENST00000379919	ensembl	human	known	74_37	silent	13.64	19	3	SNP	1.000	T	T	36049877	C	T	36049877	2	4	25	1	0	0	0	0	0	0	0	1	9177	912	32	3		3	MAB21L1	13	36049877	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3031949	36049877	79120001	144	6484											
PCDH17	27253	genome.wustl.edu	37	chr13	58208621	58208621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcggcgagatccgcacGctgcaccctttctgggagga	7	7	13	14	4	1	1	0	0	1	1	3	4	3	3	3	3	2	3	3	3	0	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr13:58208621G>A	ENST00000377918.3	+	1	1967	c.1941G>A	c.(1939-1941)acG>acA	p.T647T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	647	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGATCCGCACGCTGCACCCTT	0.642																																					Melanoma(72;952 1291 1619 12849 33676)												0													99	99	99					13																	58208621		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1941G>A	13.37:g.58208621G>A			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T647	ENST00000377918.3	37	c.1941	CCDS31986.1	13																																																																																			PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	16	0	G	NM_001040429		58208621	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.990	A	A	58208621	G	A	58208621	2	1	25	1	0	0	0	0	0	0	0	1	11551	1074	38	1		1	PCDH17	13	58208621	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	22158744	58208621	56961257	145	6485											
KLHL1	57626	genome.wustl.edu	37	chr13	70514337	70514337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgctgcagcaagaaggttCtcaatggtgtcctcttttaa	10	12	9	10	1	2	1	1	0	2	1	4	1	3	1	1	2	2	4	1	2	4	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr13:70514337C>T	ENST00000377844.4	-	4	1608	c.849G>A	c.(847-849)gaG>gaA	p.E283E	KLHL1_ENST00000545028.1_Silent_p.E90E	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	283					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAGAAGGTTCTCAATGGTGT	0.388																																																	0													69	65	66					13																	70514337		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.849G>A	13.37:g.70514337C>T			A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.E283	ENST00000377844.4	37	c.849	CCDS9445.1	13																																																																																			KLHL1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000150361		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	-	0	45	0	C	NM_020866		70514337	-1	tier1	-	no_errors	ENST00000377844	ensembl	human	known	74_37	silent	38.30	29	18	SNP	1.000	T	T	70514337	C	T	70514337	2	4	25	1	0	0	0	0	0	0	0	1	8392	912	32	3		3	KLHL1	13	70514337	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	12305716	70514337	44655541	146	6486											
JDP2	122953	genome.wustl.edu	37	chr14	75904609	75904609	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccactccaggctggcctGccactcctcctgctatgatg	5	10	9	17	0	0	1	0	1	0	0	3	1	3	1	6	2	3	2	6	2	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr14:75904609G>T	ENST00000435893.2	+	0	259				JDP2_ENST00000267569.5_Missense_Mutation_p.A7S|JDP2_ENST00000419727.2_5'UTR|JDP2_ENST00000437176.1_5'UTR|JDP2_ENST00000559773.1_3'UTR	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2						negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	AGGCTGGCCTGCCACTCCTCC	0.662																																																	0													21	26	24					14																	75904609		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"basic leucine zipper proteins"	17546	protein-coding gene	gene with protein product	"progesterone receptor co-activator"	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.-15G>T	14.37:g.75904609G>T			J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.A7S	ENST00000435893.2	37	c.19	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080358	0.36662	.	.	ENSG00000140044	ENST00000267569	T	0.57595	0.39	5.46	2.49	0.30216	.	.	.	.	.	T	0.38665	0.1049	.	.	.	0.22330	N	0.999195	.	.	.	.	.	.	T	0.24297	-1.0164	6	0.22706	T	0.39	.	6.3828	0.21544	0.1521:0.0:0.7017:0.1462	.	.	.	.	S	7	ENSP00000267569:A7S	ENSP00000267569:A7S	A	+	1	0	JDP2	74974362	0.870000	0.30015	0.714000	0.30535	0.779000	0.44077	3.085000	0.50151	0.691000	0.31592	-0.291000	0.09656	GCC	JDP2	-	NULL	ENSG00000140044		0.662	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	-	0	44	0	G	NM_130469		75904609	1	tier1	-	no_errors	ENST00000267569	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.015	T	T	75904609	G	T	75904609	1	4	25	0	1	0	0	0	0	0	0	0	7974	1319	46	3		3	JDP2	14	75904609	5'UTR	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		75904609	31444931	147	6487											
AKT1	207	genome.wustl.edu	37	chr14	105236687	105236687	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgccgcctcaggccgtGccgctggccgagtaggagaa	7	4	14	16	5	1	1	1	0	0	1	1	3	1	1	7	3	1	2	7	3	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr14:105236687G>T	ENST00000554581.1	-	13	2914	c.1434C>A	c.(1432-1434)ggC>ggA	p.G478G	AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000554192.1_Silent_p.G165G|AKT1_ENST00000555528.1_Silent_p.G478G|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000555458.1_Intron|AKT1_ENST00000349310.3_Silent_p.G478G|AKT1_ENST00000402615.2_Silent_p.G478G|AKT1_ENST00000544168.1_Silent_p.G416G|AKT1_ENST00000554848.1_Silent_p.G478G|AKT1_ENST00000407796.2_Silent_p.G478G			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	478	AGC-kinase C-terminal.			G -> A (in Ref. 7; CAA43372). {ECO:0000305}.|G -> S (in Ref. 1; AAA36539, 2; AAL55732, 3; BAG36922 and 4; BAG70056/BAG70181). {ECO:0000305}.	activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CTCAGGCCGTGCCGCTGGCCG	0.607		1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													41	35	37					14																	105236687		2202	4300	6502	SO:0001819	synonymous_variant	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.1434C>A	14.37:g.105236687G>T			B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.G478	ENST00000554581.1	37	c.1434	CCDS9994.1	14																																																																																			AKT1	-	superfamily_Kinase-like_dom	ENSG00000142208		0.607	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	-	0	48	0	G	NM_005163		105236687	-1	tier1	-	no_errors	ENST00000349310	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	105236687	G	T	105236687	2	4	25	1	0	0	0	0	0	0	0	1	478	1306	46	3		3	AKT1	14	105236687	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	29332078	105236687	2112853	148	6488											
KIAA0284	283638	genome.wustl.edu	37	chr14	105355974	105355974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccactcagaccccgaggGctggcagctccagccgggct	7	4	13	17	2	1	1	1	0	0	1	2	2	2	1	5	3	3	4	5	3	0	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr14:105355974G>A	ENST00000414716.3	+	13	3985	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	CEP170B_ENST00000556508.1_Missense_Mutation_p.A1218T|CEP170B_ENST00000453495.1_Missense_Mutation_p.A1289T|CEP170B_ENST00000418279.1_Missense_Mutation_p.A1183T	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1288						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GACCCCGAGGGCTGGCAGCTC	0.672																																																	0													21	25	24					14																	105355974		1872	4065	5937	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3757G>A	14.37:g.105355974G>A	ENSP00000404151:p.Ala1253Thr		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A1289T	ENST00000414716.3	37	c.3865	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047364	0.55110	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.44881	0.91;0.94;0.91;0.94	4.15	3.17	0.36434	.	0.934920	0.08800	U	0.891936	T	0.37019	0.0988	L	0.50333	1.59	0.19775	N	0.999952	P;P;P	0.46912	0.634;0.886;0.745	B;B;B	0.43082	0.124;0.398;0.407	T	0.38286	-0.9668	10	0.62326	D	0.03	-10.4503	3.5246	0.07755	0.1024:0.1672:0.5589:0.1715	.	1253;1288;1183	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	T	1218;1253;1289;1183	ENSP00000451249:A1218T;ENSP00000404151:A1253T;ENSP00000407238:A1289T;ENSP00000415006:A1183T	ENSP00000404151:A1253T	A	+	1	0	KIAA0284	104427019	0.788000	0.28762	0.912000	0.35992	0.914000	0.54420	0.890000	0.28295	2.013000	0.59113	0.478000	0.44815	GCT	CEP170B	-	NULL	ENSG00000099814		0.672	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0	65	0	G	NM_001112726		105355974	1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	missense	18.82	69	16	SNP	0.550	A	A	105355974	G	A	105355974	3	1	25	1	0	0	0	0	1	0	0	0	8193	1203	42	3	3803	3	KIAA0284	14	105355974	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	119287	105355974	1993566	149	6489											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890125	23890125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatagggctttggacctccCagtcactcagatttagattc	9	12	10	10	0	2	2	2	0	0	2	4	4	3	4	2	3	0	1	2	3	2	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:23890125C>A	ENST00000532292.1	-	1	1050	c.956G>T	c.(955-957)tGg>tTg	p.W319L		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	202	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTGGACCTCCCAGTCACTCAG	0.607																																																	0													56	63	61					15																	23890125		2017	4203	6220	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.956G>T	15.37:g.23890125C>A	ENSP00000433433:p.Trp319Leu			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.W319L	ENST00000532292.1	37	c.956		15	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208048	0.39003	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	T	0.52901	0.1763	L	0.58101	1.795	0.30346	N	0.785249	.	.	.	.	.	.	T	0.52631	-0.8550	5	.	.	.	.	11.8024	0.52135	0.0:1.0:0.0:0.0	.	.	.	.	W	351	.	.	G	-	1	0	MAGEL2	21441218	0.984000	0.35163	0.998000	0.56505	0.183000	0.23260	1.559000	0.36320	2.488000	0.83962	0.655000	0.94253	GGG	MAGEL2	-	NULL	ENSG00000254585		0.607	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	46	0	C	NM_019066		23890125	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	25.40	47	16	SNP	0.998	A	A	23890125	C	A	23890125	3	1	25	1	0	0	0	0	1	0	0	0	9227	595	21	3	988	3	MAGEL2	15	23890125	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		23890125	78641267	150	6490											
HERC2	8924	genome.wustl.edu	37	chr15	28361836	28361836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcggaacatgctgctgtgCacgggtgctctggcggccgg	6	7	17	11	4	1	0	0	0	1	0	1	1	1	1	1	5	6	4	1	5	2	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:28361836C>A	ENST00000261609.7	-	88	13692	c.13584G>T	c.(13582-13584)gtG>gtT	p.V4528V		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCTGCTGTGCACGGGTGCTC	0.602																																																	0													84	79	81					15																	28361836		2203	4300	6503	SO:0001819	synonymous_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13584G>T	15.37:g.28361836C>A				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.V4528	ENST00000261609.7	37	c.13584	CCDS10021.1	15																																																																																			HERC2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000128731		0.602	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	32	0	C	NM_004667		28361836	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	silent	18.18	36	8	SNP	1.000	A	A	28361836	C	A	28361836	2	1	25	1	0	0	0	0	0	0	0	1	7085	697	25	3		3	HERC2	15	28361836	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	4471711	28361836	74169556	151	6491											
MTMR10	54893	genome.wustl.edu	37	chr15	31266646	31266646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaggactttctgcttcctCttgtggtcgtttactaaaaa	8	16	7	10	1	2	0	0	0	2	0	4	1	3	1	2	2	2	2	2	2	5	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:31266646C>T	ENST00000435680.1	-	5	442	c.345G>A	c.(343-345)aaG>aaA	p.K115K	MTMR10_ENST00000563714.1_Silent_p.K33K|MTMR10_ENST00000314404.8_5'Flank|MTMR10_ENST00000425768.1_Silent_p.K115K	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	115							phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TCTGCTTCCTCTTGTGGTCGT	0.299																																																	0													54	50	51					15																	31266646		1795	4058	5853	SO:0001819	synonymous_variant	0			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.345G>A	15.37:g.31266646C>T			Q6P4Q6	Silent	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.K115	ENST00000435680.1	37	c.345	CCDS45204.1	15																																																																																			MTMR10	-	NULL	ENSG00000166912		0.299	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	HGNC	protein_coding	OTTHUMT00000430747.1	-	0	42	0	C	NM_017762		31266646	-1	tier1	-	no_errors	ENST00000435680	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	T	T	31266646	C	T	31266646	2	4	25	1	0	0	0	0	0	0	0	1	9977	912	32	3		3	MTMR10	15	31266646	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	2904810	31266646	71264746	152	6492											
CASC5	57082	genome.wustl.edu	37	chr15	40913867	40913867	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtattgcaatccagatgctAtgtcttctctcacagagaaa	12	13	7	9	0	3	2	1	0	2	2	5	3	4	2	1	0	2	3	1	0	4	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:40913867A>C	ENST00000346991.5	+	11	1873	c.1483A>C	c.(1483-1485)Atg>Ctg	p.M495L	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.M469L			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	495	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCCAGATGCTATGTCTTCTCT	0.343																																																	0													51	49	50					15																	40913867		1847	4082	5929	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1483A>C	15.37:g.40913867A>C	ENSP00000335463:p.Met495Leu		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.M495L	ENST00000346991.5	37	c.1483	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	A	1.369	-0.586506	0.03827	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.04551	3.6;3.6	5.94	0.791	0.18619	.	1.061170	0.07376	N	0.886573	T	0.04092	0.0114	L	0.40543	1.245	0.09310	N	1	B;B;B	0.18968	0.032;0.032;0.006	B;B;B	0.12837	0.008;0.008;0.008	T	0.49409	-0.8943	10	0.09338	T	0.73	.	4.9985	0.14253	0.6012:0.0:0.2751:0.1237	.	469;495;469	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	L	495;469;469	ENSP00000335463:M495L;ENSP00000382576:M469L	ENSP00000260369:M469L	M	+	1	0	CASC5	38701159	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	1.506000	0.35747	-0.112000	0.11979	-0.379000	0.06801	ATG	CASC5	-	NULL	ENSG00000137812		0.343	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0	22	0	A	NM_144508		40913867	1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.000	C	C	40913867	A	C	40913867	3	2	25	1	0	0	0	0	1	0	0	0	2670	449	16	4	1521	4	CASC5	15	40913867	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	9647221	40913867	61617525	153	6493											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42116141	42116141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagcccctgtgcccaGcaactgccagtcagcagcct	8	5	9	19	0	1	0	1	0	0	0	1	0	1	0	6	0	8	3	6	0	1	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:42116141G>T	ENST00000456763.2	+	30	4309	c.4113G>T	c.(4111-4113)caG>caT	p.Q1371H	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.Q1365H|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.Q1204H|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.Q1248H|RP11-23P13.4_ENST00000510176.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1371										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCTGTGCCCAGCAACTGCCAG	0.622																																																	0													53	61	59					15																	42116141		2203	4300	6503	SO:0001583	missense	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4113G>T	15.37:g.42116141G>T	ENSP00000393099:p.Gln1371His		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q1371H	ENST00000456763.2	37	c.4113	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	17.13	3.311308	0.60414	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.42900	1.13;1.3;0.96;1.18	5.81	4.89	0.63831	.	0.599767	0.18027	N	0.154057	T	0.40839	0.1133	L	0.44542	1.39	0.26637	N	0.972367	P;P;P;P;P	0.49961	0.755;0.755;0.93;0.694;0.874	B;P;B;B;B	0.48141	0.346;0.568;0.436;0.326;0.444	T	0.26360	-1.0105	10	0.37606	T	0.19	-4.0011	9.9973	0.41907	0.0696:0.0:0.7948:0.1356	.	1204;1248;1204;1371;1365	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	H	1365;1248;1204;1371	ENSP00000397570:Q1365H;ENSP00000221214:Q1248H;ENSP00000260357:Q1204H;ENSP00000393099:Q1371H	ENSP00000221214:Q1248H	Q	+	3	2	MAPKBP1	39903433	0.992000	0.36948	1.000000	0.80357	0.994000	0.84299	1.040000	0.30278	2.746000	0.94184	0.655000	0.94253	CAG	MAPKBP1	-	NULL	ENSG00000137802		0.622	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	-	0	69	0	G	NM_014994		42116141	1	tier1	-	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.989	T	T	42116141	G	T	42116141	3	4	25	1	0	0	0	0	1	0	0	0	9330	962	34	3	4227	3	MAPKBP1	15	42116141	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	1202274	42116141	60415251	154	6494											
SNX1	6642	genome.wustl.edu	37	chr15	64424089	64424089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcctcctggccatagtcCgcgtaagcttctgtttcctt	4	15	8	14	3	1	0	0	0	1	0	5	0	4	0	5	1	1	3	5	1	2	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:64424089C>A	ENST00000559844.1	+	11	1233	c.1219C>A	c.(1219-1221)Cgc>Agc	p.R407S	SNX1_ENST00000559339.1_3'UTR|SNX1_ENST00000561026.1_Missense_Mutation_p.R342S|SNX1_ENST00000261889.5_Missense_Mutation_p.R407S|SNX1_ENST00000560829.1_Missense_Mutation_p.R189S|SNX1_ENST00000353874.4_Missense_Mutation_p.R407S			Q13596	SNX1_HUMAN	sorting nexin 1	407	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GGCCATAGTCCGCGTAAGCTT	0.473																																																	0													105	96	99					15																	64424089		2203	4300	6503	SO:0001583	missense	0			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1219C>A	15.37:g.64424089C>A	ENSP00000453785:p.Arg407Ser		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R407S	ENST00000559844.1	37	c.1219	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841464	0.71488	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.36699	1.24	5.2	4.22	0.49857	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	M	0.80183	2.485	0.21897	N	0.999484	D;D;D;D;D;D;D	0.71674	0.997;0.99;0.994;0.994;0.988;0.998;0.99	D;P;D;D;P;D;D	0.73380	0.98;0.876;0.963;0.963;0.853;0.979;0.946	T	0.51450	-0.8704	10	0.87932	D	0	-8.3908	10.6063	0.45396	0.3145:0.6854:0.0:0.0	.	407;317;407;407;342;407;407	Q6ZRJ8;Q59GU6;Q53HL9;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;.;SNX1_HUMAN	S	407;407;342	ENSP00000326668:R407S	ENSP00000261889:R342S	R	+	1	0	SNX1	62211142	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	1.904000	0.39868	2.693000	0.91896	0.561000	0.74099	CGC	SNX1	-	pfam_Vps5_C	ENSG00000028528		0.473	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	-	0	33	0	C	NM_003099		64424089	1	tier1	-	no_errors	ENST00000559844	ensembl	human	known	74_37	missense	51.43	17	18	SNP	1.000	A	A	64424089	C	A	64424089	3	1	25	1	0	0	0	0	1	0	0	0	14925	652	23	2	1261	2	SNX1	15	64424089	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	22307948	64424089	38107303	155	6495											
NR2E3	10002	genome.wustl.edu	37	chr15	72105936	72105936	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattggcggtggacccccacGgagtttgcctgcatgaaggc	7	8	14	12	2	0	1	0	1	0	0	0	3	0	3	3	5	2	2	3	5	1	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:72105936G>A	ENST00000398840.2	+	0	1144							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						GGACCCCCACGGAGTTTGCCT	0.602																																																	0													57	62	60					15																	72105936		2024	4170	6194			0				CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"Nuclear hormone receptors"	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72105936G>A			B6ZGU0|Q9UHM4	RNA	SNP	-	NULL	ENST00000398840.2	37	NULL		15																																																																																			NR2E3	-	-	ENSG00000031544		0.602	NR2E3-202	KNOWN	basic	processed_transcript	NR2E3	HGNC	processed_transcript		-	0	26	0	G	NM_014249		72105936	1	tier1	-	no_errors	ENST00000326995	ensembl	human	known	74_37	rna	22.86	27	8	SNP	0.004	A	A	72105936	G	A	72105936	1	1	25	0	1	0	0	0	0	0	0	0	10665	1117	39	1		1	NR2E3	15	72105936	RNA	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	7681847	72105936	30425456	156	6496											
ISLR	3671	genome.wustl.edu	37	chr15	74468116	74468116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccagccgcgcttccaggCctttgccaatggcagcctgc	5	8	10	18	2	0	0	0	0	0	0	2	0	2	0	6	2	4	2	6	2	1	2	rs267604313		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:74468116C>A	ENST00000249842.3	+	2	1274	c.917C>A	c.(916-918)gCc>gAc	p.A306D	ISLR_ENST00000395118.1_Missense_Mutation_p.A306D|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	306	Ig-like.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CGCTTCCAGGCCTTTGCCAAT	0.632																																																	0													46	49	48					15																	74468116		2198	4296	6494	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.917C>A	15.37:g.74468116C>A	ENSP00000249842:p.Ala306Asp			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom	p.A306D	ENST00000249842.3	37	c.917	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583303	0.46006	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.68181	-0.31;-0.31	4.37	4.37	0.52481	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.161688	0.28349	U	0.015670	T	0.73418	0.3584	L	0.55990	1.75	0.34576	D	0.713912	D	0.76494	0.999	D	0.71184	0.972	T	0.78585	-0.2147	10	0.41790	T	0.15	.	7.8948	0.29699	0.0:0.759:0.0:0.241	.	306	O14498	ISLR_HUMAN	D	306	ENSP00000249842:A306D;ENSP00000378550:A306D	ENSP00000249842:A306D	A	+	2	0	ISLR	72255169	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	2.597000	0.46214	1.987000	0.57996	0.313000	0.20887	GCC	ISLR	-	pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000129009		0.632	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1		0	30	0	C	NM_005545		74468116	1			no_errors	ENST00000249842	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	74468116	C	A	74468116	3	1	25	1	0	0	0	0	1	0	0	0	7885	739	26	3	919	3	ISLR	15	74468116	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	2362180	74468116	28063276	157	6497											
WDR61	80349	genome.wustl.edu	37	chr15	78580699	78580699	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagtccggggaaaaggtCaaggagcgaatgggcatggc	11	5	19	6	2	1	0	1	0	0	0	2	4	2	3	1	7	1	1	1	7	4	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:78580699C>G	ENST00000267973.2	-	8	859	c.588G>C	c.(586-588)ttG>ttC	p.L196F	WDR61_ENST00000559332.1_5'Flank|WDR61_ENST00000558311.1_Missense_Mutation_p.L196F|WDR61_ENST00000558459.1_Missense_Mutation_p.L103F			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	196					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGGAAAAGGTCAAGGAGCGAA	0.493																																																	0													168	129	142					15																	78580699		2196	4293	6489	SO:0001583	missense	0				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"WD repeat domain containing"	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.588G>C	15.37:g.78580699C>G	ENSP00000267973:p.Leu196Phe		D3DW84|Q6IA22|Q7Z4X4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L196F	ENST00000267973.2	37	c.588	CCDS10300.1	15	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726736	0.69074	.	.	ENSG00000140395	ENST00000267973	T	0.64803	-0.12	5.88	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065023	0.64402	D	0.000007	T	0.76292	0.3967	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.76889	-0.2792	10	0.87932	D	0	-1.6699	9.5849	0.39510	0.0:0.6583:0.2641:0.0777	.	196	Q9GZS3	WDR61_HUMAN	F	196	ENSP00000267973:L196F	ENSP00000267973:L196F	L	-	3	2	WDR61	76367754	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.527000	0.35975	0.727000	0.32360	0.555000	0.69702	TTG	WDR61	-	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000140395		0.493	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR61	HGNC	protein_coding	OTTHUMT00000289803.3	-	0	41	0	C	NM_025234		78580699	-1	tier1	-	no_errors	ENST00000267973	ensembl	human	known	74_37	missense	10.00	54	6	SNP	1.000	G	G	78580699	C	G	78580699	3	3	25	1	0	0	0	0	1	0	0	0	17361	825	29	5	345	5	WDR61	15	78580699	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	4112583	78580699	23950693	158	6498											
CTSH	1512	genome.wustl.edu	37	chr15	79220095	79220095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgacaaagccgatggccTttccaggttggaacttgcaa	10	10	10	11	1	0	1	0	1	0	0	1	3	1	2	4	3	3	2	4	3	3	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:79220095T>C	ENST00000220166.5	-	9	768	c.659A>G	c.(658-660)aAg>aGg	p.K220R	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	220					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GCCGATGGCCTTTCCAGGTTG	0.517																																																	0													174	130	145					15																	79220095		2196	4293	6489	SO:0001583	missense	0			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"Cathepsins"	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.659A>G	15.37:g.79220095T>C	ENSP00000220166:p.Lys220Arg		B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.K220R	ENST00000220166.5	37	c.659	CCDS10308.1	15	.	.	.	.	.	.	.	.	.	.	T	8.593	0.885148	0.17540	.	.	ENSG00000103811	ENST00000220166;ENST00000394758	D	0.87650	-2.28	4.94	4.94	0.65067	Peptidase C1A, papain C-terminal (2);	0.215893	0.39341	N	0.001383	D	0.82912	0.5140	L	0.59967	1.855	0.22710	N	0.998825	B;B	0.17268	0.021;0.021	B;B	0.21546	0.035;0.017	T	0.66756	-0.5843	10	0.14656	T	0.56	.	10.9722	0.47446	0.0:0.0:0.0:1.0	.	220;208	P09668;E9PBP2	CATH_HUMAN;.	R	220;208	ENSP00000220166:K220R	ENSP00000220166:K220R	K	-	2	0	CTSH	77007150	0.884000	0.30299	0.866000	0.34008	0.066000	0.16364	2.430000	0.44766	1.868000	0.54150	0.482000	0.46254	AAG	CTSH	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000103811		0.517	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	-	0	34	0	T	NM_004390		79220095	-1	tier1	-	no_errors	ENST00000220166	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.459	C	C	79220095	T	C	79220095	3	2	25	1	0	0	0	0	1	0	0	0	4045	1609	56	4	364	4	CTSH	15	79220095	Missense_Mutation	SNP	T	TCGA-IG-A51D-01A-11D-A27G-09	639396	79220095	23311297	159	6499											
SEC11A	23478	genome.wustl.edu	37	chr15	85230877	85230877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcatgaatcttcaagactCggtgaactataggaatctct	12	14	7	8	1	4	3	2	2	2	1	6	4	4	4	0	2	1	0	0	2	6	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr15:85230877C>T	ENST00000268220.7	-	3	930	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SEC11A_ENST00000558134.1_Missense_Mutation_p.R97Q|SEC11A_ENST00000455959.3_Missense_Mutation_p.R71Q|SEC11A_ENST00000560266.1_Missense_Mutation_p.R97Q|RP11-245C17.2_ENST00000558044.1_RNA	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CTTCAAGACTCGGTGAACTAT	0.353																																																	0													181	175	177					15																	85230877		1844	4094	5938	SO:0001583	missense	0			AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"SEC11-like 1 (S. cerevisiae)"	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.290G>A	15.37:g.85230877C>T	ENSP00000268220:p.Arg97Gln		B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B	p.R97Q	ENST00000268220.7	37	c.290	CCDS45340.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.335657	0.95758	.	.	ENSG00000140612	ENST00000268220;ENST00000455959	.	.	.	5.42	5.42	0.78866	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.85682	D	0.000000	D	0.90662	0.7071	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.94266	0.7506	9	0.87932	D	0	.	16.7174	0.85400	0.0:1.0:0.0:0.0	.	97	P67812	SC11A_HUMAN	Q	97;71	.	ENSP00000268220:R97Q	R	-	2	0	SEC11A	83031881	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.755000	0.85180	2.545000	0.85829	0.585000	0.79938	CGA	SEC11A	-	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Peptidase_S26B	ENSG00000140612		0.353	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC11A	HGNC	protein_coding	OTTHUMT00000418777.1		0	22	0	C	NM_014300		85230877	-1			no_errors	ENST00000268220	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	85230877	C	T	85230877	3	4	25	1	0	0	0	0	1	0	0	0	14023	884	31	1	265	1	SEC11A	15	85230877	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	6010782	85230877	17300515	160	6500											
PPL	5493	genome.wustl.edu	37	chr16	4938211	4938211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttagtttttctgcttctaaCtcatagtcctgcatgaggga	8	16	8	9	0	3	1	1	1	2	0	4	2	4	2	1	1	3	3	1	1	3	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr16:4938211C>T	ENST00000345988.2	-	20	2495	c.2406G>A	c.(2404-2406)gaG>gaA	p.E802E	PPL_ENST00000590782.2_Silent_p.E800E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	802					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGCTTCTAACTCATAGTCCT	0.507																																																	0													108	99	102					16																	4938211		2197	4300	6497	SO:0001819	synonymous_variant	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2406G>A	16.37:g.4938211C>T			O60314|O60454|Q14C98	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E802	ENST00000345988.2	37	c.2406	CCDS10526.1	16																																																																																			PPL	-	smart_Spectrin/alpha-actinin	ENSG00000118898		0.507	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0	57	0	C	NM_002705		4938211	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	silent	19.12	54	13	SNP	0.580	T	T	4938211	C	T	4938211	2	4	25	1	0	0	0	0	0	0	0	1	12376	564	20	3		3	PPL	16	4938211	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		4938211	85416542	161	6501											
OTOA	146183	genome.wustl.edu	37	chr16	21726332	21726332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttctacaatgtcagccaGatgggcgcactgctggctgg	7	11	12	11	1	3	1	1	0	2	1	3	1	3	1	1	3	3	3	1	3	2	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr16:21726332G>A	ENST00000286149.4	+	13	1390	c.1389G>A	c.(1387-1389)caG>caA	p.Q463Q	OTOA_ENST00000388958.3_Silent_p.Q449Q|OTOA_ENST00000388957.3_Silent_p.Q125Q|OTOA_ENST00000388956.4_Silent_p.Q370Q			Q7RTW8	OTOAN_HUMAN	otoancorin	463					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ATGTCAGCCAGATGGGCGCAC	0.587																																																	0													124	115	118					16																	21726332		2199	4300	6499	SO:0001819	synonymous_variant	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1389G>A	16.37:g.21726332G>A			A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	NULL	p.Q463	ENST00000286149.4	37	c.1389		16																																																																																			OTOA	-	NULL	ENSG00000155719		0.587	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	-	0	40	0	G			21726332	1	tier1	-	no_errors	ENST00000286149	ensembl	human	known	74_37	silent	8.06	57	5	SNP	1.000	A	A	21726332	G	A	21726332	2	1	25	1	0	0	0	0	0	0	0	1	11341	933	33	3		3	OTOA	16	21726332	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	16788121	21726332	68628421	162	6502											
ARMC5	79798	genome.wustl.edu	37	chr16	31476122	31476122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcgcggcgctgctgcGggcctggctggtgctggggg	1	8	21	11	4	0	0	0	0	0	0	0	0	0	0	1	7	3	4	1	7	1	1	rs368070473		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr16:31476122G>T	ENST00000563544.1	+	5	2324	c.1778G>T	c.(1777-1779)cGg>cTg	p.R593L	ARMC5_ENST00000408912.3_Missense_Mutation_p.R688L|ARMC5_ENST00000412665.2_Missense_Mutation_p.R237L|ARMC5_ENST00000538189.1_Missense_Mutation_p.R625L|ARMC5_ENST00000268314.4_Missense_Mutation_p.R593L|ARMC5_ENST00000457010.2_Missense_Mutation_p.R593L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	593										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCGCTGCTGCGGGCCTGGCTG	0.711																																																	0													10	12	11					16																	31476122		2141	4235	6376	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1778G>T	16.37:g.31476122G>T	ENSP00000456877:p.Arg593Leu		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.R688L	ENST00000563544.1	37	c.2063	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961919	0.74016	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.39056	1.94;1.94;1.94;1.94;1.1	5.74	4.73	0.59995	Armadillo-type fold (1);	0.267431	0.34932	N	0.003577	T	0.49389	0.1554	L	0.53249	1.67	0.09310	N	0.999996	P;D;D;P;D	0.57257	0.949;0.979;0.979;0.772;0.979	P;P;P;B;P	0.52856	0.553;0.569;0.569;0.28;0.711	T	0.42531	-0.9446	10	0.41790	T	0.15	-38.9492	13.9492	0.64106	0.0:0.1532:0.8468:0.0	.	625;625;688;593;593	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	L	688;625;593;593;237	ENSP00000386125:R688L;ENSP00000443995:R625L;ENSP00000268314:R593L;ENSP00000399561:R593L;ENSP00000400183:R237L	ENSP00000268314:R593L	R	+	2	0	ARMC5	31383623	0.999000	0.42202	0.901000	0.35422	0.631000	0.37964	4.638000	0.61353	2.721000	0.93114	0.491000	0.48974	CGG	ARMC5	-	superfamily_ARM-type_fold	ENSG00000140691		0.711	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1		0	30	0	G	NM_024742		31476122	1			no_errors	ENST00000408912	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.178	T	T	31476122	G	T	31476122	3	4	25	1	0	0	0	0	1	0	0	0	955	1116	39	2	1792	2	ARMC5	16	31476122	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	9749790	31476122	58878631	163	6503											
TP53	7157	genome.wustl.edu	37	chr17	7577567	7577568	+	Frame_Shift_Del	DEL	AC	AC	-																															ccgcccatgcaggaactgttAcacatgtagttgtagtggat																								rs193920789		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:7577567_7577568delAC	ENST00000269305.4	-	7	902_903	c.713_714delGT	c.(712-714)tgtfs	p.C238fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C238fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.N239fs*25(12)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.N239fs*1(4)|p.M237_N239delMCN(4)|p.C238*(4)|p.C238W(2)|p.M144_N146delMCN(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*21(1)|p.N239fs*26(1)|p.C238del(1)|p.C238C(1)|p.M237fs*1(1)|p.C145S(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGAACTGTTACACATGTAGTT	0.574		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	184	Substitution - Missense(133)|Insertion - Frameshift(18)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Substitution - Nonsense(4)|Deletion - Frameshift(4)|Insertion - In frame(1)|Substitution - coding silent(1)	breast(23)|ovary(23)|lung(16)|large_intestine(15)|haematopoietic_and_lymphoid_tissue(14)|endometrium(13)|oesophagus(11)|upper_aerodigestive_tract(10)|central_nervous_system(10)|urinary_tract(9)|pancreas(8)|soft_tissue(7)|biliary_tract(6)|stomach(5)|liver(5)|bone(5)|skin(3)|meninges(1)	GRCh37	CM034930	TP53	M																																				SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713_714delGT	17.37:g.7577569_7577570delAC	ENSP00000269305:p.Cys238fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C238fs	ENST00000269305.4	37	c.714_713	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.574	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	242	0	AC	NM_000546		7577568	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	50.92	134	139	DEL	0.999:1.000	-	-	7577568	AC	-	7577567	7	5	25	1	0	1	0	1	0	0	0	0	16429	389	14	0	576	0	TP53	17	7577567	Frame_Shift_Del	DEL	AC	TCGA-IG-A51D-01A-11D-A27G-09		7577567	73617643	164	6504											
MYH10	4628	genome.wustl.edu	37	chr17	8380347	8380347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtttaagctgcttcatcCgagcgttggccttctccatc	5	13	10	13	3	2	0	1	0	1	0	5	1	3	0	3	2	3	4	3	2	1	5			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:8380347C>T	ENST00000269243.4	-	40	5771	c.5633G>A	c.(5632-5634)cGg>cAg	p.R1878Q	MYH10_ENST00000379980.4_Missense_Mutation_p.R1894Q|MYH10_ENST00000396239.1_Missense_Mutation_p.R1899Q|MYH10_ENST00000360416.3_Missense_Mutation_p.R1909Q|NDEL1_ENST00000299734.7_Intron	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1878					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGCTTCATCCGAGCGTTGGC	0.562																																																	0													71	65	67					17																	8380347		2203	4300	6503	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5633G>A	17.37:g.8380347C>T	ENSP00000269243:p.Arg1878Gln		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1899Q	ENST00000269243.4	37	c.5696	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.348270	0.95807	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.06	5.06	0.68205	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.92221	0.7533	M	0.93197	3.39	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;P;D	0.68765	0.96;0.897;0.96	D	0.93845	0.7140	10	0.87932	D	0	.	18.5693	0.91129	0.0:1.0:0.0:0.0	.	1887;1909;1878	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1878;1909;1899;1894	ENSP00000269243:R1878Q;ENSP00000353590:R1909Q;ENSP00000379539:R1899Q;ENSP00000369315:R1894Q	ENSP00000269243:R1878Q	R	-	2	0	MYH10	8321072	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.609000	0.82925	2.782000	0.95742	0.655000	0.94253	CGG	MYH10	-	pfam_Myosin_tail,superfamily_HR1_rho-bd	ENSG00000133026		0.562	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2		0	30	0	C			8380347	-1			no_errors	ENST00000396239	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	8380347	C	T	8380347	3	4	25	1	0	0	0	0	1	0	0	0	10068	652	23	1	305	1	MYH10	17	8380347	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	802780	8380347	72814863	165	6505											
MYH13	8735	genome.wustl.edu	37	chr17	10227347	10227347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtttgctcaccttgttctCtgtggcatgcttctcctttt	2	19	9	11	0	3	0	1	0	2	0	5	0	3	0	2	2	2	5	2	2	0	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:10227347C>T	ENST00000418404.3	-	22	3089	c.2926G>A	c.(2926-2928)Gag>Aag	p.E976K	MYH13_ENST00000252172.4_Missense_Mutation_p.E976K|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	976					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E976K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCTTGTTCTCTGTGGCATGC	0.488																																																	2	Substitution - Missense(2)	lung(2)											93	89	90					17																	10227347		2197	4299	6496	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2926G>A	17.37:g.10227347C>T	ENSP00000404570:p.Glu976Lys		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E976K	ENST00000418404.3	37	c.2926	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101598	0.76983	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.85484	-1.99	4.37	4.37	0.52481	.	.	.	.	.	D	0.93252	0.7850	M	0.90019	3.08	0.49582	D	0.999803	D;D	0.71674	0.991;0.998	P;D	0.65684	0.881;0.937	D	0.94798	0.7968	9	0.87932	D	0	.	17.4708	0.87646	0.0:1.0:0.0:0.0	.	602;976	B4DFX9;Q9UKX3	.;MYH13_HUMAN	K	976;602	ENSP00000252172:E976K	ENSP00000252172:E976K	E	-	1	0	MYH13	10168072	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.522000	0.81844	2.407000	0.81776	0.655000	0.94253	GAG	MYH13	-	NULL	ENSG00000006788		0.488	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	165	0	C	NM_003802		10227347	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	17.54	141	30	SNP	1.000	T	T	10227347	C	T	10227347	3	4	25	1	0	0	0	0	1	0	0	0	10070	922	32	3	2966	3	MYH13	17	10227347	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	1847000	10227347	70967863	166	6506											
LGALS9C	654346	genome.wustl.edu	37	chr17	18390984	18390984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtgaacgggagcctcttCgtgcagtacttccaccgcgt	7	10	12	12	4	1	1	0	1	1	0	3	2	2	2	3	2	4	2	3	2	2	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:18390984C>T	ENST00000328114.6	+	4	438	c.357C>T	c.(355-357)ttC>ttT	p.F119F	LGALS9C_ENST00000584941.1_Silent_p.F119F|LGALS9C_ENST00000581545.1_Silent_p.F119F|LGALS9C_ENST00000412421.2_Silent_p.F31F|LGALS9C_ENST00000583322.1_Silent_p.F119F	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	119	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						GGAGCCTCTTCGTGCAGTACT	0.622																																																	0													25	18	20					17																	18390984		2192	4194	6386	SO:0001819	synonymous_variant	0				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.357C>T	17.37:g.18390984C>T			B0AZM7	Silent	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.F119	ENST00000328114.6	37	c.357	CCDS32587.1	17																																																																																			LGALS9C	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000171916		0.622	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LGALS9C	HGNC	protein_coding	OTTHUMT00000131456.2		0	13	0	C	NM_001040078		18390984	1			no_errors	ENST00000328114	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.011	T	T	18390984	C	T	18390984	2	4	25	1	0	0	0	0	0	0	0	1	8779	883	31	1		1	LGALS9C	17	18390984	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	8163637	18390984	62804226	167	6507											
SLC47A1	55244	genome.wustl.edu	37	chr17	19470501	19470501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtggttggcctccccatCgggatcgcgctgatgtttgc	4	13	13	11	3	0	1	0	1	0	0	3	2	1	2	3	3	1	3	3	3	1	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:19470501C>T	ENST00000270570.4	+	14	1355	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000457293.1_Silent_p.I423I|SLC47A1_ENST00000436810.2_Silent_p.I400I|SLC47A1_ENST00000571335.1_Silent_p.I228I|SLC47A1_ENST00000395585.1_Silent_p.I423I|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	423					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	GCCTCCCCATCGGGATCGCGC	0.557																																																	0													297	238	258					17																	19470501		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1269C>T	17.37:g.19470501C>T			Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Silent	SNP	pfam_MATE,tigrfam_MATE	p.I423	ENST00000270570.4	37	c.1269	CCDS11209.1	17																																																																																			SLC47A1	-	pfam_MATE,tigrfam_MATE	ENSG00000142494		0.557	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	-	0	64	0	C	NM_018242		19470501	1	tier1	-	no_errors	ENST00000395585	ensembl	human	known	74_37	silent	24.71	64	21	SNP	0.944	T	T	19470501	C	T	19470501	2	4	25	1	0	0	0	0	0	0	0	1	14692	874	31	1		1	SLC47A1	17	19470501	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	1079517	19470501	61724709	168	6508											
CPD	1362	genome.wustl.edu	37	chr17	28712032	28712032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctggaaatctgcatGgtggctcagtggtagcaagc	8	12	13	8	0	3	0	1	0	2	0	3	1	3	1	0	4	4	5	0	4	3	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:28712032G>A	ENST00000225719.4	+	2	848	c.772G>A	c.(772-774)Ggt>Agt	p.G258S	CPD_ENST00000543464.2_Missense_Mutation_p.G11S	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	258	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AAATCTGCATGGTGGCTCAGT	0.358																																																	0													175	177	177					17																	28712032		2203	4300	6503	SO:0001583	missense	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.772G>A	17.37:g.28712032G>A	ENSP00000225719:p.Gly258Ser		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.G258S	ENST00000225719.4	37	c.772	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.373392	0.95923	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.10860	4.24;2.83	5.39	5.39	0.77823	Peptidase M14, carboxypeptidase A (3);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02047	-1.1223	10	0.62326	D	0.03	.	18.1448	0.89651	0.0:0.0:1.0:0.0	.	11;258	F5GZH6;O75976	.;CBPD_HUMAN	S	258;11	ENSP00000225719:G258S;ENSP00000444443:G11S	ENSP00000225719:G258S	G	+	1	0	CPD	25736158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.499000	0.84300	0.591000	0.81541	GGT	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.358	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	-	0	86	0	G	NM_001304		28712032	1	tier1	-	no_errors	ENST00000225719	ensembl	human	known	74_37	missense	12.87	88	13	SNP	1.000	A	A	28712032	G	A	28712032	3	1	25	1	0	0	0	0	1	0	0	0	3805	1348	47	3	778	3	CPD	17	28712032	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	9241531	28712032	52483178	169	6509											
GGNBP2	79893	genome.wustl.edu	37	chr17	34937810	34937810	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacagggtattagcagattgGaacaactttgtgaggaattt	13	13	11	4	0	0	2	0	1	0	1	0	4	0	4	0	3	4	2	0	3	6	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:34937810G>T	ENST00000304718.4	+	9	1373	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	353					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E353*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TAGCAGATTGGAACAACTTTG	0.348																																																	1	Substitution - Nonsense(1)	lung(1)											102	102	102					17																	34937810		2203	4300	6503	SO:0001587	stop_gained	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1057G>T	17.37:g.34937810G>T	ENSP00000307617:p.Glu353*		B2RPK7|Q96T90|Q9GZR8|Q9H767	Nonsense_Mutation	SNP	NULL	p.E353*	ENST00000304718.4	37	c.1057	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.627126	0.97718	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	0.052711	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.9157	19.343	0.94352	0.0:0.0:1.0:0.0	.	.	.	.	X	353	.	ENSP00000307617:E353X	E	+	1	0	GGNBP2	32011923	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	8.953000	0.93041	2.572000	0.86782	0.491000	0.48974	GAA	GGNBP2	-	NULL	ENSG00000005955		0.348	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2		0	25	0	G	NM_024835		34937810	1			no_errors	ENST00000304718	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	T	T	34937810	G	T	34937810	4	4	25	1	0	0	0	0	0	1	0	0	6385	1175	41	3	1087	3	GGNBP2	17	34937810	Nonsense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	6225778	34937810	46257400	170	6510											
KRTAP9-3	83900	genome.wustl.edu	37	chr17	39389161	39389161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccgcccagcctgctgtgaGaccacctgctgcaggaccac	7	6	11	17	1	0	1	0	1	0	1	0	3	0	2	6	1	5	3	6	1	0	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:39389161G>C	ENST00000411528.2	+	1	447	c.408G>C	c.(406-408)gaG>gaC	p.E136D		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	136	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament (GO:0045095)				breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGTGAGACCACCTGCT	0.577																																																	0													119	147	138					17																	39389161		2101	4298	6399	SO:0001583	missense	0			AJ406947	CCDS11385.1	17q21.2	2013-06-25			ENSG00000204873	ENSG00000204873		"Keratin associated proteins"	16927	protein-coding gene	gene with protein product						11279113	Standard	NM_031962		Approved	KAP9.3	uc021txg.1	Q9BYQ3	OTTHUMG00000133427	ENST00000411528.2:c.408G>C	17.37:g.39389161G>C	ENSP00000392189:p.Glu136Asp			Missense_Mutation	SNP	NULL	p.E136D	ENST00000411528.2	37	c.408	CCDS11385.1	17	.	.	.	.	.	.	.	.	.	.	.	9.990	1.230626	0.22542	.	.	ENSG00000204873	ENST00000411528	T	0.01379	4.96	1.54	-1.65	0.08291	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.46596	-0.9180	7	0.12766	T	0.61	.	0.8897	0.01252	0.1677:0.2275:0.3744:0.2303	.	.	.	.	D	136	ENSP00000392189:E136D	ENSP00000392189:E136D	E	+	3	2	KRTAP9-3	36642687	0.000000	0.05858	0.002000	0.10522	0.517000	0.34286	-1.951000	0.01529	-0.595000	0.05828	0.194000	0.17425	GAG	KRTAP9-3	-	NULL	ENSG00000204873		0.577	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-3	HGNC	protein_coding	OTTHUMT00000257290.1	-	0	157	0	G			39389161	1	tier1	-	no_errors	ENST00000411528	ensembl	human	known	74_37	missense	16.48	146	29	SNP	0.119	C	C	39389161	G	C	39389161	3	2	25	1	0	0	0	0	1	0	0	0	8602	933	33	5	410	5	KRTAP9-3	17	39389161	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	4451351	39389161	41806049	171	6511											
TEX14	56155	genome.wustl.edu	37	chr17	56643158	56643158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttctcatgcaacaccgtgGatgagccctgctgctgtttc	6	13	10	12	1	1	1	1	1	1	0	3	2	1	2	2	1	5	5	2	1	1	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:56643158G>A	ENST00000240361.8	-	28	4137	c.4052C>T	c.(4051-4053)tCc>tTc	p.S1351F	TEX14_ENST00000584699.1_5'Flank|TEX14_ENST00000349033.5_Missense_Mutation_p.S1305F|TEX14_ENST00000389934.3_Missense_Mutation_p.S1345F			Q8IWB6	TEX14_HUMAN	testis expressed 14	1351					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAACACCGTGGATGAGCCCTG	0.473																																																	0													127	88	101					17																	56643158		2203	4300	6503	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4052C>T	17.37:g.56643158G>A	ENSP00000240361:p.Ser1351Phe		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.S1351F	ENST00000240361.8	37	c.4052	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429399	0.62844	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.26223	1.75;1.75;1.75	5.35	5.35	0.76521	.	0.415392	0.23431	N	0.048247	T	0.43389	0.1245	L	0.59436	1.845	0.32477	N	0.541959	D;D;D	0.63880	0.976;0.993;0.986	P;P;P	0.59487	0.656;0.858;0.814	T	0.53947	-0.8366	10	0.87932	D	0	-1.8245	14.4328	0.67261	0.0:0.0:1.0:0.0	.	1351;1305;1345	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	F	1351;1345;1305	ENSP00000240361:S1351F;ENSP00000374584:S1345F;ENSP00000268910:S1305F	ENSP00000240361:S1351F	S	-	2	0	TEX14	53998157	0.533000	0.26354	0.482000	0.27366	0.378000	0.30076	1.108000	0.31123	2.780000	0.95670	0.655000	0.94253	TCC	TEX14	-	NULL	ENSG00000121101		0.473	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1		0	28	0	G			56643158	-1			no_errors	ENST00000240361	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.794	A	A	56643158	G	A	56643158	3	1	25	1	0	0	0	0	1	0	0	0	15825	1174	41	3	465	3	TEX14	17	56643158	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	17253997	56643158	24552052	172	6512											
NACA2	342538	genome.wustl.edu	37	chr17	59667899	59667899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctttcagatggttacaCtgttaattccataatcgcat	10	16	7	8	1	1	1	1	0	0	1	3	1	2	1	1	1	2	5	1	1	3	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:59667899C>T	ENST00000521764.1	-	1	664	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	215					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GATGGTTACACTGTTAATTCC	0.363																																																	0													188	170	176					17																	59667899		2203	4300	6503	SO:0001583	missense	0			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.643G>A	17.37:g.59667899C>T	ENSP00000427802:p.Val215Met		Q2VIR9	Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom	p.V215M	ENST00000521764.1	37	c.643	CCDS11630.1	17	.	.	.	.	.	.	.	.	.	.	c	4.735	0.136757	0.09032	.	.	ENSG00000253506	ENST00000521764	T	0.42131	0.98	0.753	-0.433	0.12287	.	0.054728	0.64402	N	0.000002	T	0.07683	0.0193	N	0.00214	-1.84	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	9	.	.	.	.	4.2782	0.10820	0.0:0.5276:0.0:0.4724	.	215	Q9H009	NACA2_HUMAN	M	215	ENSP00000427802:V215M	.	V	-	1	0	NACA2	57022681	0.999000	0.42202	0.154000	0.22540	0.309000	0.27889	0.800000	0.27042	-0.223000	0.09943	-0.919000	0.02742	GTG	NACA2	-	pirsf_EGD2/NACA	ENSG00000253506		0.363	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2		0	82	0	C	NM_199290		59667899	-1			no_errors	ENST00000521764	ensembl	human	known	74_37	missense	6.19	91	6	SNP	0.097	T	T	59667899	C	T	59667899	3	4	25	1	0	0	0	0	1	0	0	0	10172	565	20	3	8	3	NACA2	17	59667899	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3024741	59667899	21527311	173	6513			1	8		5	5	638	N	C_A	1.489577e-11
NACA2	342538	genome.wustl.edu	37	chr17	59668285	59668285	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtaactcctgtaacctgtAgaagacccagtttggacata	13	11	8	9	0	0	2	0	0	0	2	1	3	1	3	3	1	2	4	3	1	6	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:59668285A>C	ENST00000521764.1	-	1	278	c.257T>G	c.(256-258)cTa>cGa	p.L86R		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	86	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGTAACCTGTAGAAGACCCAG	0.468																																																	0													239	232	234					17																	59668285		2203	4300	6503	SO:0001583	missense	0			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.257T>G	17.37:g.59668285A>C	ENSP00000427802:p.Leu86Arg		Q2VIR9	Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom	p.L86R	ENST00000521764.1	37	c.257	CCDS11630.1	17	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855090	0.32791	.	.	ENSG00000253506	ENST00000521764	T	0.39056	1.1	0.753	-0.545	0.11843	Nascent polypeptide-associated complex NAC (2);	0.076345	0.49305	N	0.000155	T	0.12050	0.0293	N	0.01576	-0.805	0.23150	N	0.998214	B	0.02656	0.0	B	0.06405	0.002	T	0.27054	-1.0085	9	.	.	.	.	5.5188	0.16921	0.3319:0.6681:0.0:0.0	.	86	Q9H009	NACA2_HUMAN	R	86	ENSP00000427802:L86R	.	L	-	2	0	NACA2	57023067	1.000000	0.71417	0.990000	0.47175	0.693000	0.40251	3.585000	0.53943	-0.160000	0.11002	-0.811000	0.03165	CTA	NACA2	-	pfam_Nas_poly-pep-assoc_cplx_dom,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom	ENSG00000253506		0.468	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2		0	93	0	A	NM_199290		59668285	-1			no_errors	ENST00000521764	ensembl	human	known	74_37	missense	11.19	119	15	SNP	1.000	C	C	59668285	A	C	59668285	3	2	25	1	0	0	0	0	1	0	0	0	10172	420	15	4	394	4	NACA2	17	59668285	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	386	59668285	21526925	174	6514			1	8		5	5	638	N	C_A	1.489577e-11
NACA2	342538	genome.wustl.edu	37	chr17	59668318	59668318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatagccttccgtgccCtcttttcactccgactctgt	5	14	7	15	2	3	0	1	0	2	0	5	2	5	1	4	1	2	0	4	1	1	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:59668318C>T	ENST00000521764.1	-	1	245	c.224G>A	c.(223-225)aGg>aAg	p.R75K		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	75	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTTCCGTGCCCTCTTTTCACT	0.458																																																	0													246	229	234					17																	59668318		2203	4300	6503	SO:0001583	missense	0			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.224G>A	17.37:g.59668318C>T	ENSP00000427802:p.Arg75Lys		Q2VIR9	Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom	p.R75K	ENST00000521764.1	37	c.224	CCDS11630.1	17	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976583	0.34848	.	.	ENSG00000253506	ENST00000521764	T	0.17528	2.27	0.753	-0.748	0.11087	Nascent polypeptide-associated complex NAC (2);	0.072360	0.50627	N	0.000118	T	0.01489	0.0048	N	0.00010	-3.04	0.23577	N	0.997375	B	0.02656	0.0	B	0.01281	0.0	T	0.46076	-0.9217	9	.	.	.	.	4.0866	0.09950	0.0:0.257:0.0:0.743	.	75	Q9H009	NACA2_HUMAN	K	75	ENSP00000427802:R75K	.	R	-	2	0	NACA2	57023100	1.000000	0.71417	0.973000	0.42090	0.773000	0.43773	3.300000	0.51834	-0.188000	0.10499	-0.624000	0.04008	AGG	NACA2	-	pfam_Nas_poly-pep-assoc_cplx_dom,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom	ENSG00000253506		0.458	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2	-	0	96	0	C	NM_199290		59668318	-1	tier1	-	no_errors	ENST00000521764	ensembl	human	known	74_37	missense	10.64	126	15	SNP	1.000	T	T	59668318	C	T	59668318	3	4	25	1	0	0	0	0	1	0	0	0	10172	681	24	3	427	3	NACA2	17	59668318	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	33	59668318	21526892	175	6515			1	8		5	5	638	N	C_A	1.489577e-11
NACA2	342538	genome.wustl.edu	37	chr17	59668349	59668349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactctgttttgctttacCgactggttcttcatcaattt	6	18	6	11	2	4	0	2	0	2	0	4	2	4	0	2	1	2	3	2	1	2	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:59668349C>T	ENST00000521764.1	-	1	214	c.193G>A	c.(193-195)Ggt>Agt	p.G65S		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGCTTTACCGACTGGTTCT	0.483																																																	0													188	171	177					17																	59668349		2203	4300	6503	SO:0001583	missense	0			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.193G>A	17.37:g.59668349C>T	ENSP00000427802:p.Gly65Ser		Q2VIR9	Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom	p.G65S	ENST00000521764.1	37	c.193	CCDS11630.1	17	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324349	0.41197	.	.	ENSG00000253506	ENST00000521764	T	0.39229	1.09	0.753	-0.473	0.12112	.	0.000000	0.85682	N	0.000000	T	0.06462	0.0166	N	0.00058	-2.35	0.20074	N	0.999938	B	0.02656	0.0	B	0.01281	0.0	T	0.37430	-0.9706	9	.	.	.	.	5.1442	0.14975	0.0:0.4225:0.0:0.5775	.	65	Q9H009	NACA2_HUMAN	S	65	ENSP00000427802:G65S	.	G	-	1	0	NACA2	57023131	1.000000	0.71417	0.972000	0.41901	0.763000	0.43281	2.566000	0.45948	-0.880000	0.03997	-0.684000	0.03749	GGT	NACA2	-	pirsf_EGD2/NACA	ENSG00000253506		0.483	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2	-	0	104	0	C	NM_199290		59668349	-1	tier1	-	no_errors	ENST00000521764	ensembl	human	known	74_37	missense	9.09	130	13	SNP	1.000	T	T	59668349	C	T	59668349	3	4	25	1	0	0	0	0	1	0	0	0	10172	652	23	1	458	1	NACA2	17	59668349	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	31	59668349	21526861	176	6516			1	8		5	5	638	N	C_A	1.489577e-11
NACA2	342538	genome.wustl.edu	37	chr17	59668536	59668536	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtttctgtggcttcgccCggcattttgtgcagggaacg	5	12	14	10	4	1	0	0	0	1	0	2	1	1	1	1	4	2	4	1	4	1	4	rs112308210		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:59668536C>G	ENST00000521764.1	-	1	27	c.6G>C	c.(4-6)ccG>ccC	p.P2P		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	2					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGGCTTCGCCCGGCATTTTGT	0.577																																																	0													51	48	49					17																	59668536		2203	4300	6503	SO:0001819	synonymous_variant	0			BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"alpha-NAC protein"	609274	"nascent-polypeptide-associated complex alpha polypeptide-like"	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.6G>C	17.37:g.59668536C>G			Q2VIR9	Silent	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom	p.P2	ENST00000521764.1	37	c.6	CCDS11630.1	17																																																																																			NACA2	-	NULL	ENSG00000253506		0.577	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACA2	HGNC	protein_coding	OTTHUMT00000255437.2		0	51	0	C	NM_199290		59668536	-1			no_errors	ENST00000521764	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.996	G	G	59668536	C	G	59668536	2	3	25	1	0	0	0	0	0	0	0	1	10172	639	23	5		5	NACA2	17	59668536	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	187	59668536	21526674	177	6517			1	8		5	5	638	N	C_A	1.489577e-11
ACOX1	51	genome.wustl.edu	37	chr17	73975071	73975071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcggcggcgccgggttttCtcggggctgccgtccaggat	2	10	16	13	6	2	0	0	0	2	0	5	1	3	1	3	6	1	2	3	6	0	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:73975071C>T	ENST00000301608.4	-	1	144	c.84G>A	c.(82-84)gaG>gaA	p.E28E	ACOX1_ENST00000293217.5_Silent_p.E28E|TEN1_ENST00000588202.1_5'Flank|TEN1-CDK3_ENST00000567351.1_RNA|ACOX1_ENST00000591857.1_5'UTR|TEN1_ENST00000416485.1_5'Flank|ACOX1_ENST00000537812.1_5'UTR|TEN1_ENST00000397640.1_5'Flank	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	28					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GCCGGGTTTTCTCGGGGCTGC	0.677																																																	0													43	51	49					17																	73975071		2203	4300	6503	SO:0001819	synonymous_variant	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.84G>A	17.37:g.73975071C>T			A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.E28	ENST00000301608.4	37	c.84	CCDS11735.1	17																																																																																			ACOX1	-	superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.677	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	-	0	45	0	C			73975071	-1	tier1	-	no_errors	ENST00000293217	ensembl	human	known	74_37	silent	23.08	30	9	SNP	1.000	T	T	73975071	C	T	73975071	2	4	25	1	0	0	0	0	0	0	0	1	158	912	32	3		3	ACOX1	17	73975071	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	14306535	73975071	7220139	178	6518											
MGAT5B	146664	genome.wustl.edu	37	chr17	74944059	74944059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccgcgcacgccctgcggGcctggctggccgtgcctggg	1	5	16	19	5	0	0	0	0	0	0	0	0	0	0	6	4	2	2	6	4	0	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:74944059G>T	ENST00000569840.2	+	17	2645	c.2071G>T	c.(2071-2073)Gcc>Tcc	p.A691S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A700S|RP11-87G24.3_ENST00000564292.1_RNA|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A689S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	691					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCCTGCGGGCCTGGCTGGC	0.701																																																	0													21	22	22					17																	74944059		2200	4298	6498	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.2071G>T	17.37:g.74944059G>T	ENSP00000456037:p.Ala691Ser		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.A700S	ENST00000569840.2	37	c.2098	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549882	0.45383	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.43688	0.94;0.94	4.66	4.66	0.58398	.	0.238298	0.34411	N	0.003988	T	0.34600	0.0903	L	0.29908	0.895	0.33183	D	0.549746	P;P;P	0.41848	0.571;0.634;0.763	B;B;B	0.39119	0.163;0.085;0.291	T	0.54463	-0.8290	10	0.62326	D	0.03	-28.8763	16.5725	0.84622	0.0:0.0:1.0:0.0	.	96;700;689	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	S	689;700	ENSP00000301618:A689S;ENSP00000391227:A700S	ENSP00000301618:A689S	A	+	1	0	MGAT5B	72455654	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.928000	0.63447	2.129000	0.65627	0.557000	0.71058	GCC	MGAT5B	-	NULL	ENSG00000167889		0.701	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2		0	27	0	G	NM_144677		74944059	1			no_errors	ENST00000428789	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	T	T	74944059	G	T	74944059	3	4	25	1	0	0	0	0	1	0	0	0	9587	1203	42	3	2228	3	MGAT5B	17	74944059	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	968988	74944059	6251151	179	6519											
TMC6	11322	genome.wustl.edu	37	chr17	76109657	76109657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctccctctccttcctctCgtagatggagtgaagcttgt	5	14	8	14	1	2	2	0	1	2	1	7	3	5	3	4	1	1	2	4	1	2	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:76109657C>T	ENST00000590602.1	-	19	2485	c.2326G>A	c.(2326-2328)Gag>Aag	p.E776K	TNRC6C-AS1_ENST00000589217.1_RNA|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.E776K|TMC6_ENST00000591436.1_Missense_Mutation_p.E355K|TMC6_ENST00000322933.4_Missense_Mutation_p.E355K|TMC6_ENST00000392467.3_Missense_Mutation_p.E776K|TMC6_ENST00000306591.7_Missense_Mutation_p.E425K			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	776					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCCTTCCTCTCGTAGATGGAG	0.562																																																	0													134	118	124					17																	76109657		2203	4300	6503	SO:0001583	missense	0			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.2326G>A	17.37:g.76109657C>T	ENSP00000465261:p.Glu776Lys		O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.E776K	ENST00000590602.1	37	c.2326	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.122348	0.94429	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591;ENST00000322933	T;T;T;T	0.70869	-0.1;-0.1;0.2;-0.52	4.27	4.27	0.50696	.	0.174764	0.48767	U	0.000169	T	0.77758	0.4178	L	0.56769	1.78	0.53688	D	0.999973	D;P;D	0.69078	0.997;0.812;0.98	P;B;B	0.60789	0.879;0.12;0.441	T	0.75690	-0.3230	10	0.27785	T	0.31	-26.8678	14.8443	0.70249	0.0:1.0:0.0:0.0	.	425;776;355	Q7Z403-2;Q7Z403;Q7Z403-3	.;TMC6_HUMAN;.	K	776;776;425;355	ENSP00000313408:E776K;ENSP00000376260:E776K;ENSP00000306405:E425K;ENSP00000313479:E355K	ENSP00000306405:E425K	E	-	1	0	TMC6	73621252	0.964000	0.33143	0.969000	0.41365	0.993000	0.82548	2.467000	0.45093	2.068000	0.61886	0.650000	0.86243	GAG	TMC6	-	NULL	ENSG00000141524		0.562	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	-	0	39	0	C			76109657	-1	tier1	-	no_errors	ENST00000322914	ensembl	human	known	74_37	missense	26.42	39	14	SNP	0.999	T	T	76109657	C	T	76109657	3	4	25	1	0	0	0	0	1	0	0	0	16036	893	31	1	99	1	TMC6	17	76109657	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	1165598	76109657	5085553	180	6520											
SLC38A10	124565	genome.wustl.edu	37	chr17	79254419	79254419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacttacgactggcaggCgaaggacatgccgaagatgg	12	5	15	9	3	0	1	0	0	0	1	0	6	0	3	1	5	2	1	1	5	3	1	rs200989047		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:79254419C>T	ENST00000374759.3	-	6	999	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.A206T	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	206					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GACTGGCAGGCGAAGGACATG	0.627																																																	0													64	53	56					17																	79254419		2203	4300	6503	SO:0001583	missense	0			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"Solute carriers"	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.616G>A	17.37:g.79254419C>T	ENSP00000363891:p.Ala206Thr		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A206T	ENST00000374759.3	37	c.616	CCDS42397.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.889179|5.889179	0.97068|0.97068	.|.	.|.	ENSG00000157637|ENSG00000157637	ENST00000374759;ENST00000288439|ENST00000543204	T;T|.	0.02015|.	4.5;4.5|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.117293|.	0.56097|.	D|.	0.000025|.	T|T	0.46190|0.46190	0.1380|0.1380	N|N	0.05534|0.05534	-0.03|-0.03	0.53005|0.53005	D|D	0.999967|0.999967	P;D|.	0.76494|.	0.55;0.999|.	B;D|.	0.67382|.	0.249;0.951|.	T|T	0.42172|0.42172	-0.9467|-0.9467	10|5	0.30854|.	T|.	0.27|.	-29.8271|-29.8271	18.6555|18.6555	0.91452|0.91452	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	206;206|.	Q9HBR0-2;Q9HBR0|.	.;S38AA_HUMAN|.	T|H	206|64	ENSP00000363891:A206T;ENSP00000288439:A206T|.	ENSP00000288439:A206T|.	A|R	-|-	1|2	0|0	SLC38A10|SLC38A10	76869014|76869014	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.969000|0.969000	0.65631|0.65631	5.525000|5.525000	0.67110|0.67110	2.469000|2.469000	0.83416|0.83416	0.585000|0.585000	0.79938|0.79938	GCC|CGC	SLC38A10	-	pfam_AA_transpt_TM	ENSG00000157637		0.627	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	-	0	35	0	C	NM_138570		79254419	-1	tier1	rs200989047	no_errors	ENST00000374759	ensembl	human	known	74_37	missense	15.69	41	8	SNP	1.000	T	T	79254419	C	T	79254419	3	4	25	1	0	0	0	0	1	0	0	0	14647	768	27	1	3065	1	SLC38A10	17	79254419	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3144762	79254419	1940791	181	6521											
GPS1	2873	genome.wustl.edu	37	chr17	80011221	80011221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcacctgacgtcaactaCgtggtggagaaccccagcct	11	7	10	13	2	1	2	1	1	0	1	1	3	1	2	4	2	5	1	4	2	4	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr17:80011221C>T	ENST00000306823.6	+	2	128	c.105C>T	c.(103-105)taC>taT	p.Y35Y	RFNG_ENST00000310496.4_5'Flank|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000355130.2_Silent_p.Y75Y|GPS1_ENST00000392358.2_Silent_p.Y75Y|RFNG_ENST00000429557.3_5'Flank|GPS1_ENST00000320548.4_Silent_p.Y19Y|GPS1_ENST00000578552.1_Silent_p.Y35Y			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	35					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			ACGTCAACTACGTGGTGGAGA	0.662																																																	0													83	75	77					17																	80011221		2201	4300	6501	SO:0001819	synonymous_variant	0				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.105C>T	17.37:g.80011221C>T			Q8NA10|Q9BWL1	Missense_Mutation	SNP	NULL	p.T42M	ENST00000306823.6	37	c.125	CCDS32774.1	17																																																																																			GPS1	-	NULL	ENSG00000169727		0.662	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	-	0	26	0	C	NM_212492		80011221	1	tier1	-	no_errors	ENST00000580627	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.982	T	T	80011221	C	T	80011221	2	4	25	1	0	0	0	0	0	0	0	1	6759	547	19	1		1	GPS1	17	80011221	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	756802	80011221	1183989	182	6522											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14763794	14763794	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggctgcacgcttggtGgagggaacgtctgccaaaat	10	7	15	9	3	1	0	0	0	1	0	1	4	1	2	1	4	3	3	1	4	3	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr18:14763794G>T	ENST00000358984.4	+	7	1110	c.930G>T	c.(928-930)gtG>gtT	p.V310V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.V310V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	310										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACGCTTGGTGGAGGGAACGT	0.488																																																	0													65	63	63					18																	14763794		692	1591	2283	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.930G>T	18.37:g.14763794G>T			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V310	ENST00000358984.4	37	c.930	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.488	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	37	0	G	NM_001145029		14763794	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.021	T	T	14763794	G	T	14763794	2	4	25	1	0	0	0	0	0	0	0	1	659	1335	47	3		3	ANKRD30B	18	14763794	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		14763794	63313454	183	6523											
ST8SIA3	51046	genome.wustl.edu	37	chr18	55021733	55021733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctaagtggaaatttaatCggacagcgtttttacatcaa	13	14	7	7	2	2	0	1	0	1	0	3	2	2	2	0	2	2	1	0	2	5	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr18:55021733C>T	ENST00000324000.3	+	2	2314	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	94					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GAAATTTAATCGGACAGCGTT	0.393																																																	0													106	105	106					18																	55021733		2203	4300	6503	SO:0001583	missense	0			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.280C>T	18.37:g.55021733C>T	ENSP00000320431:p.Arg94Trp		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R94W	ENST00000324000.3	37	c.280	CCDS32834.1	18	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030774	0.75504	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.48522	0.81	4.88	3.94	0.45596	.	0.174584	0.48767	D	0.000179	T	0.43986	0.1272	L	0.44542	1.39	0.53005	D	0.999963	D	0.63046	0.992	P	0.46629	0.522	T	0.47983	-0.9074	10	0.72032	D	0.01	-14.1362	11.4454	0.50120	0.2855:0.7144:0.0:0.0	.	94	O43173	SIA8C_HUMAN	W	201;94	ENSP00000320431:R94W	ENSP00000320431:R94W	R	+	1	2	ST8SIA3	53172731	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.497000	0.60367	2.409000	0.81822	0.467000	0.42956	CGG	ST8SIA3	-	pirsf_Sialyl_trans	ENSG00000177511		0.393	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	-	0	31	0	C	NM_015879		55021733	1	tier1	-	no_errors	ENST00000324000	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	T	T	55021733	C	T	55021733	3	4	25	1	0	0	0	0	1	0	0	0	15280	875	31	1	286	1	ST8SIA3	18	55021733	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	40257939	55021733	23055515	184	6524											
ODF3L2	284451	genome.wustl.edu	37	chr19	472424	472424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccggacgagcgagtaggCgggactggccaccctggtgc	6	5	16	14	4	0	0	0	0	0	0	1	4	1	2	4	5	2	1	4	5	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:472424C>T	ENST00000315489.4	-	2	440	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	ODF3L2_ENST00000382696.3_Intron	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	69						cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						AGCGAGTAGGCGGGACTGGCC	0.667																																																	0													29	21	24					19																	472424		2082	4038	6120	SO:0001583	missense	0			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.205G>A	19.37:g.472424C>T	ENSP00000318029:p.Ala69Thr		Q3SX65|Q8N1L2	Missense_Mutation	SNP	pfam_SHIPPO-rpt	p.A69T	ENST00000315489.4	37	c.205	CCDS12027.1	19	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872247	0.72180	.	.	ENSG00000181781	ENST00000315489	D	0.89939	-2.59	4.64	4.64	0.57946	.	0.000000	0.85682	U	0.000000	D	0.92440	0.7600	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.92999	0.6421	10	0.72032	D	0.01	-26.994	13.0057	0.58703	0.0:1.0:0.0:0.0	.	69	Q3SX64	OD3L2_HUMAN	T	69	ENSP00000318029:A69T	ENSP00000318029:A69T	A	-	1	0	ODF3L2	423424	0.999000	0.42202	0.964000	0.40570	0.189000	0.23516	4.627000	0.61276	2.122000	0.65172	0.491000	0.48974	GCC	ODF3L2	-	NULL	ENSG00000181781		0.667	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ODF3L2	HGNC	protein_coding	OTTHUMT00000451849.2	-	0	109	0	C	NM_182577		472424	-1	tier1	-	no_errors	ENST00000315489	ensembl	human	known	74_37	missense	14.29	66	11	SNP	0.998	T	T	472424	C	T	472424	3	4	25	1	0	0	0	0	1	0	0	0	10871	768	27	1	676	1	ODF3L2	19	472424	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		472424	58656559	185	6525											
CHAF1A	10036	genome.wustl.edu	37	chr19	4409549	4409549	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttggctgtgagaccaccGcaaatcaagtcccttccagc	10	9	8	14	1	2	1	1	1	1	1	4	2	4	1	4	1	1	2	4	1	2	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:4409549G>T	ENST00000301280.5	+	3	854	c.753G>T	c.(751-753)ccG>ccT	p.P251P		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	251	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)	p.P251P(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACCACCGCAAATCAAGT	0.542								Chromatin Structure																																									1	Substitution - coding silent(1)	endometrium(1)											108	102	104					19																	4409549		2203	4300	6503	SO:0001819	synonymous_variant	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.753G>T	19.37:g.4409549G>T			Q6NXG5|Q7Z7K3|Q9UJY8	Silent	SNP	pfam_CAF1A	p.P251	ENST00000301280.5	37	c.753	CCDS32875.1	19																																																																																			CHAF1A	-	NULL	ENSG00000167670		0.542	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2		0	43	0	G	NM_005483		4409549	1			no_errors	ENST00000301280	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.000	T	T	4409549	G	T	4409549	2	4	25	1	0	0	0	0	0	0	0	1	3318	1074	38	2		2	CHAF1A	19	4409549	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	3937125	4409549	54719434	186	6526											
SLC25A42	284439	genome.wustl.edu	37	chr19	19206999	19206999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggctgtcctgtcctcGtccgtctcatcaaaggcaag	7	10	11	13	2	2	1	2	1	1	0	7	1	5	1	3	2	0	3	3	2	2	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:19206999G>A	ENST00000318596.7	+	2	217	c.66G>A	c.(64-66)tcG>tcA	p.S22S		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	22					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCCTGTCCTCGTCCGTCTCAT	0.647																																																	0													191	152	165					19																	19206999		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"Solute carriers"	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.66G>A	19.37:g.19206999G>A			D2T2J5|O14553|O43378	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.S22	ENST00000318596.7	37	c.66	CCDS32966.1	19																																																																																			SLC25A42	-	NULL	ENSG00000181035		0.647	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	-	0	32	0	G	NM_178526		19206999	1	tier1	-	no_errors	ENST00000318596	ensembl	human	known	74_37	silent	19.23	41	10	SNP	0.009	A	A	19206999	G	A	19206999	2	1	25	1	0	0	0	0	0	0	0	1	14552	1132	40	1		1	SLC25A42	19	19206999	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	14797450	19206999	39921984	187	6527											
ZNF431	170959	genome.wustl.edu	37	chr19	21365980	21365980	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccatatagatgtgaaGaatgtggcaaagccttcaac	17	8	9	7	0	1	4	1	1	0	3	1	4	1	4	2	1	3	1	2	1	7	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:21365980G>T	ENST00000311048.7	+	5	1018	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	292					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)	p.E292Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TAGATGTGAAGAATGTGGCAA	0.403																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											55	58	57					19																	21365980		2202	4298	6500	SO:0001587	stop_gained	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.874G>T	19.37:g.21365980G>T	ENSP00000308578:p.Glu292*		A8KAK7|Q8IWC4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E292*	ENST00000311048.7	37	c.874	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	17.90	3.502949	0.64298	.	.	ENSG00000196705	ENST00000311048	.	.	.	1.0	1.0	0.19881	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.5417	0.12061	0.2371:0.0:0.7629:0.0	.	.	.	.	X	292	.	ENSP00000308578:E292X	E	+	1	0	ZNF431	21157820	0.000000	0.05858	0.792000	0.32020	0.769000	0.43574	-1.368000	0.02580	0.446000	0.26666	0.449000	0.29647	GAA	ZNF431	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196705		0.403	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1		0	28	0	G	XM_086098		21365980	1			no_errors	ENST00000311048	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.010	T	T	21365980	G	T	21365980	4	4	25	1	0	0	0	0	0	1	0	0	17953	943	33	3	892	3	ZNF431	19	21365980	Nonsense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	2158981	21365980	37763003	188	6528											
PRX	57716	genome.wustl.edu	37	chr19	40902249	40902249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacagccatctcaggCattttagggagtttcatctc	8	13	9	11	0	4	0	2	0	3	0	6	1	4	1	1	3	1	3	1	3	1	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:40902249C>A	ENST00000324001.7	-	7	2280	c.2010G>T	c.(2008-2010)atG>atT	p.M670I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	670	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCATCTCAGGCATTTTAGGGA	0.582																																																	0													88	99	95					19																	40902249		2203	4300	6503	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2010G>T	19.37:g.40902249C>A	ENSP00000326018:p.Met670Ile		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M670I	ENST00000324001.7	37	c.2010	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	0.498	-0.872185	0.02570	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01918	4.56	4.09	0.737	0.18314	.	0.632021	0.13782	N	0.363154	T	0.01489	0.0048	N	0.22421	0.69	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.49123	-0.8972	10	0.10111	T	0.7	-2.5123	5.7756	0.18277	0.0:0.586:0.0:0.414	.	670	Q9BXM0	PRAX_HUMAN	I	670	ENSP00000326018:M670I	ENSP00000326018:M670I	M	-	3	0	PRX	45594089	0.043000	0.20138	0.120000	0.21714	0.016000	0.09150	-0.191000	0.09601	0.504000	0.28082	-0.142000	0.14014	ATG	PRX	-	NULL	ENSG00000105227		0.582	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	-	0	27	0	C	NM_020956		40902249	-1	tier1	-	no_errors	ENST00000324001	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.022	A	A	40902249	C	A	40902249	3	1	25	1	0	0	0	0	1	0	0	0	12684	710	25	3	2379	3	PRX	19	40902249	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	19536269	40902249	18226734	189	6529											
CYP2A13	1553	genome.wustl.edu	37	chr19	41594483	41594483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggggaagctgcctccggGacccaccccattgcccttca	7	6	11	17	1	1	0	1	0	0	0	2	2	2	2	6	3	3	1	6	3	1	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:41594483G>T	ENST00000330436.3	+	1	107	c.107G>T	c.(106-108)gGa>gTa	p.G36V		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	36					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CTGCCTCCGGGACCCACCCCA	0.587																																																	0													87	77	81					19																	41594483		2203	4300	6503	SO:0001583	missense	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.107G>T	19.37:g.41594483G>T	ENSP00000332679:p.Gly36Val		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.G36V	ENST00000330436.3	37	c.107	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	15.98	2.992648	0.54041	.	.	ENSG00000197838	ENST00000330436	T	0.01998	4.51	3.33	3.33	0.38152	.	0.000000	0.85682	U	0.000000	T	0.16041	0.0386	M	0.92604	3.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.02728	-1.1118	10	0.87932	D	0	.	12.5835	0.56403	0.0:0.0:1.0:0.0	.	36	Q16696	CP2AD_HUMAN	V	36	ENSP00000332679:G36V	ENSP00000332679:G36V	G	+	2	0	CYP2A13	46286323	1.000000	0.71417	0.367000	0.25926	0.516000	0.34256	8.109000	0.89561	1.870000	0.54199	0.444000	0.29173	GGA	CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.587	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	-	0	78	0	G	NM_000766		41594483	1	tier1	-	no_errors	ENST00000330436	ensembl	human	known	74_37	missense	18.58	92	21	SNP	0.999	T	T	41594483	G	T	41594483	3	4	25	1	0	0	0	0	1	0	0	0	4170	1174	41	3	109	3	CYP2A13	19	41594483	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	692234	41594483	17534500	190	6530											
CYP2A13	1553	genome.wustl.edu	37	chr19	41597723	41597723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaagggctggaggacttCatcgccaagaaggtggagca	11	6	15	9	1	1	1	1	0	0	1	2	4	1	4	1	5	2	3	1	5	3	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:41597723C>T	ENST00000330436.3	+	5	741	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	247					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	TGGAGGACTTCATCGCCAAGA	0.557																																																	0													157	119	132					19																	41597723		2203	4300	6503	SO:0001819	synonymous_variant	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.741C>T	19.37:g.41597723C>T			Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.F247	ENST00000330436.3	37	c.741	CCDS12571.1	19																																																																																			CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	-	0	78	0	C	NM_000766		41597723	1	tier1	-	no_errors	ENST00000330436	ensembl	human	known	74_37	silent	13.46	90	14	SNP	1.000	T	T	41597723	C	T	41597723	2	4	25	1	0	0	0	0	0	0	0	1	4170	825	29	3		3	CYP2A13	19	41597723	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	3240	41597723	17531260	191	6531											
TMEM91	641649	genome.wustl.edu	37	chr19	41889782	41889782	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgagacccgccctagttgCccctacagccctcactgtga	7	7	8	19	2	1	2	1	1	0	1	1	3	1	2	6	0	3	1	6	0	2	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:41889782C>T	ENST00000392002.2	+	0	1183				TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000413014.2_Silent_p.C125C|TMEM91_ENST00000447302.2_Missense_Mutation_p.P122S|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000604123.1_Silent_p.C182C|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000544232.1_Silent_p.C125C|CTC-435M10.3_ENST00000604424.1_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91						hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GCCCTAGTTGCCCCTACAGCC	0.677																																																	0													23	27	26					19																	41889782		1980	4166	6146	SO:0001624	3_prime_UTR_variant	0			AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 6"					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.*4C>T	19.37:g.41889782C>T			C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.P122S	ENST00000392002.2	37	c.364	CCDS42571.1	19	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124093	0.20959	.	.	ENSG00000142046	ENST00000447302;ENST00000546050	.	.	.	3.57	2.51	0.30379	.	.	.	.	.	T	0.14830	0.0358	N	0.03608	-0.345	0.19300	N	0.999973	B	0.30851	0.297	B	0.32342	0.144	T	0.18209	-1.0344	8	0.02654	T	1	.	11.3868	0.49789	0.0:0.4866:0.5133:0.0	.	122	C9J9D1	.	S	122;58	.	ENSP00000405647:P122S	P	+	1	0	TMEM91	46581622	0.504000	0.26123	0.615000	0.29064	0.391000	0.30476	1.593000	0.36686	0.838000	0.34948	-0.304000	0.09214	CCC	TMEM91	-	NULL	ENSG00000142046		0.677	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM91	HGNC	protein_coding	OTTHUMT00000398302.2		0	27	0	C			41889782	1			no_errors	ENST00000447302	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.044	T	T	41889782	C	T	41889782	1	4	25	0	1	0	0	0	0	0	0	0	16267	748	26	3		3	TMEM91	19	41889782	3'UTR	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	292059	41889782	17239201	192	6532											
RPS19	6223	genome.wustl.edu	37	chr19	42373777	42373777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctccccacagcggccgcaAactgacacctcagggacaaa	12	3	8	18	2	1	1	1	1	0	0	2	2	2	2	5	2	2	1	5	2	2	0			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:42373777A>G	ENST00000598742.1	+	5	737	c.365A>G	c.(364-366)aAa>aGa	p.K122R	RPS19_ENST00000593863.1_Missense_Mutation_p.K122R|RPS19_ENST00000221975.2_Missense_Mutation_p.K48R	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	122					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AGCGGCCGCAAACTGACACCT	0.607									Diamond-Blackfan Anemia																																								0													76	67	70					19																	42373777		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.365A>G	19.37:g.42373777A>G	ENSP00000470972:p.Lys122Arg			Missense_Mutation	SNP	pfam_Ribosomal_S19e	p.K122R	ENST00000598742.1	37	c.365	CCDS12588.1	19	.	.	.	.	.	.	.	.	.	.	A	6.806	0.517807	0.13005	.	.	ENSG00000105372	ENST00000221975	.	.	.	5.24	5.24	0.73138	.	0.047713	0.85682	D	0.000000	T	0.27832	0.0685	N	0.04724	-0.175	0.43368	D	0.995454	B	0.06786	0.001	B	0.15052	0.012	T	0.18587	-1.0332	9	0.02654	T	1	-4.4845	13.3864	0.60799	1.0:0.0:0.0:0.0	.	122	P39019	RS19_HUMAN	R	122	.	ENSP00000221975:K122R	K	+	2	0	RPS19	47065617	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.686000	0.68211	2.111000	0.64477	0.460000	0.39030	AAA	RPS19	-	pfam_Ribosomal_S19e	ENSG00000105372		0.607	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	-	0	29	0	A	NM_001022		42373777	1	tier1	-	no_errors	ENST00000593863	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	G	G	42373777	A	G	42373777	3	3	25	1	0	0	0	0	1	0	0	0	13674	14	1	4	379	4	RPS19	19	42373777	Missense_Mutation	SNP	A	TCGA-IG-A51D-01A-11D-A27G-09	483995	42373777	16755206	193	6533											
QPCTL	54814	genome.wustl.edu	37	chr19	46196806	46196806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccgggaaatctccaaGtcagaaaggtaaagggaccc	14	4	12	11	1	2	1	1	0	1	1	3	3	2	3	3	3	1	2	3	3	5	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:46196806G>T	ENST00000012049.5	+	2	564	c.343G>T	c.(343-345)Gtc>Ttc	p.V115F	SNRPD2_ENST00000588599.1_5'Flank|SNRPD2_ENST00000585392.1_5'Flank|SNRPD2_ENST00000590212.1_5'Flank|SNRPD2_ENST00000342669.3_5'Flank|SNRPD2_ENST00000587367.1_5'Flank|SNRPD2_ENST00000587579.1_5'Flank|SNRPD2_ENST00000391932.3_5'Flank|SNRPD2_ENST00000588301.1_5'Flank|QPCTL_ENST00000366382.4_Missense_Mutation_p.V115F	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	115					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.V115L(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AAATCTCCAAGTCAGAAAGGT	0.577											OREG0025560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	breast(1)											66	75	72					19																	46196806		2203	4300	6503	SO:0001583	missense	0			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"glutaminyl cyclase-like"						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.343G>T	19.37:g.46196806G>T	ENSP00000012049:p.Val115Phe	937	Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.V115F	ENST00000012049.5	37	c.343	CCDS12672.1	19	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062238	0.55432	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.24723	1.84;2.0	5.34	5.34	0.76211	.	0.060489	0.64402	D	0.000003	T	0.57829	0.2080	M	0.90252	3.1	0.32797	N	0.500337	D	0.89917	1.0	D	0.74023	0.982	T	0.73997	-0.3806	10	0.87932	D	0	-28.758	14.5475	0.68041	0.0:0.0:1.0:0.0	.	115	Q9NXS2	QPCTL_HUMAN	F	115	ENSP00000012049:V115F;ENSP00000387944:V115F	ENSP00000012049:V115F	V	+	1	0	QPCTL	50888646	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.230000	0.58632	2.514000	0.84764	0.462000	0.41574	GTC	QPCTL	-	NULL	ENSG00000011478		0.577	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1		0	36	0	G	NM_017659		46196806	1			no_errors	ENST00000012049	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	46196806	G	T	46196806	3	4	25	1	0	0	0	0	1	0	0	0	12920	1029	36	3	349	3	QPCTL	19	46196806	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	3823029	46196806	12932177	194	6534											
PRKCG	5582	genome.wustl.edu	37	chr19	54407957	54407957	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaactgtcacctacccCaagtcgctttcccgggaagc	11	7	8	15	2	1	0	1	0	0	0	3	2	2	1	4	1	4	1	4	1	5	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:54407957C>G	ENST00000263431.3	+	16	2007	c.1725C>G	c.(1723-1725)ccC>ccG	p.P575P	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Silent_p.P575P	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	575	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCACCTACCCCAAGTCGCTTT	0.587																																																	0													105	76	86					19																	54407957		2203	4300	6503	SO:0001819	synonymous_variant	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1725C>G	19.37:g.54407957C>G			B7Z8Q0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P575	ENST00000263431.3	37	c.1725	CCDS12867.1	19																																																																																			PRKCG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom	ENSG00000126583		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	-	0	29	0	C	NM_002739		54407957	1	tier1	-	no_errors	ENST00000540413	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	G	G	54407957	C	G	54407957	2	3	25	1	0	0	0	0	0	0	0	1	12554	581	21	5		5	PRKCG	19	54407957	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	8211151	54407957	4721026	195	6535											
LILRA2	11027	genome.wustl.edu	37	chr19	55085970	55085970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccatcacctgggaacaCgcagggcggtatcactgtca	10	7	10	14	2	3	0	3	0	0	0	4	1	4	1	3	3	1	2	3	3	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr19:55085970C>T	ENST00000251377.3	+	4	406	c.273C>T	c.(271-273)caC>caT	p.H91H	LILRA2_ENST00000391737.1_Silent_p.H79H|LILRA2_ENST00000391738.3_Silent_p.H91H|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.H91H|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	91	Ig-like C2-type 1.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCTGGGAACACGCAGGGCGGT	0.527																																																	0													101	91	94					19																	55085970		2203	4300	6503	SO:0001819	synonymous_variant	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.273C>T	19.37:g.55085970C>T			O75020	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.H91	ENST00000251377.3	37	c.273	CCDS46179.1	19																																																																																			LILRA2	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000239998		0.527	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	-	0	90	0	C			55085970	1	tier1	-	no_errors	ENST00000251377	ensembl	human	known	74_37	silent	10.10	89	10	SNP	0.004	T	T	55085970	C	T	55085970	2	4	25	1	0	0	0	0	0	0	0	1	8814	535	19	1		1	LILRA2	19	55085970	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	678013	55085970	4043013	196	6536											
ASXL1	171023	genome.wustl.edu	37	chr20	31024730	31024730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaagggatgccctttgtCatggacttgcccttctggaa	7	13	12	9	0	2	0	1	0	1	0	2	4	2	4	2	4	2	0	2	4	2	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr20:31024730C>T	ENST00000375687.4	+	13	4639	c.4215C>T	c.(4213-4215)gtC>gtT	p.V1405V	ASXL1_ENST00000306058.5_Silent_p.V1400V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1405					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGCCCTTTGTCATGGACTTGC	0.562			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													108	113	111					20																	31024730		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4215C>T	20.37:g.31024730C>T			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.V1405	ENST00000375687.4	37	c.4215	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.562	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2		0	25	0	C	NM_015338		31024730	1			no_errors	ENST00000375687	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	T	T	31024730	C	T	31024730	2	4	25	1	0	0	0	0	0	0	0	1	1067	813	29	3		3	ASXL1	20	31024730	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		31024730	32000790	197	6537											
EDEM2	55741	genome.wustl.edu	37	chr20	33719587	33719587	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaatgtggttgccgacCtgagagagagaaagacacac	15	6	11	9	1	1	4	1	1	0	3	1	7	1	4	2	1	1	1	2	1	2	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr20:33719587C>T	ENST00000374492.3	-	7	808		c.e7-1		EDEM2_ENST00000541621.1_Splice_Site|EDEM2_ENST00000542871.1_Splice_Site|EDEM2_ENST00000374491.3_Splice_Site|EDEM2_ENST00000540582.1_Splice_Site	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGTTGCCGACCTGAGAGAGAG	0.592																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													85	82	83					20																	33719587		2203	4300	6503	SO:0001630	splice_region_variant	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.703-1G>A	20.37:g.33719587C>T			B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Splice_Site	SNP	-	e7-1	ENST00000374492.3	37	c.703-1	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498861	0.85069	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000540582	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6275	0.95684	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EDEM2	33183248	1.000000	0.71417	0.997000	0.53966	0.689000	0.40095	7.786000	0.85741	2.625000	0.88918	0.650000	0.86243	.	EDEM2	-	-	ENSG00000088298		0.592	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	-	0	34	0	C	NM_018217	Intron	33719587	-1	tier1	-	no_errors	ENST00000374492	ensembl	human	known	74_37	splice_site	11.11	48	6	SNP	1.000	T	T	33719587	C	T	33719587	5	4	25	1	0	0	0	0	0	0	1	0	4926	695	24	3	1054	3	EDEM2	20	33719587	Splice_Site	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	2694857	33719587	29305933	198	6538											
KIAA0406	9675	genome.wustl.edu	37	chr20	36640851	36640851	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggtctttggagaagcattCagatcatcagagttccaacg	12	10	11	8	1	4	3	3	0	1	3	5	5	5	3	1	2	2	2	1	2	2	3			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr20:36640851C>G	ENST00000373448.2	-	3	1606	c.1368G>C	c.(1366-1368)ctG>ctC	p.L456L	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Silent_p.L456L|TTI1_ENST00000373447.3_Silent_p.L456L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	456					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GAGAAGCATTCAGATCATCAG	0.498																																																	0													59	61	60					20																	36640851		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1368G>C	20.37:g.36640851C>G			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.L456	ENST00000373448.2	37	c.1368	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.498	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	-	0	36	0	C	NM_014657		36640851	-1	tier1	-	no_errors	ENST00000373447	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.256	G	G	36640851	C	G	36640851	2	3	25	1	0	0	0	0	0	0	0	1	8200	813	29	5		5	KIAA0406	20	36640851	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	2921264	36640851	26384669	199	6539											
PREX1	57580	genome.wustl.edu	37	chr20	47248873	47248873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgcgttgatgtcctgctGcaaatcctccgcggcctggc	4	10	12	15	4	0	1	0	1	0	0	3	1	3	1	4	2	3	3	4	2	1	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr20:47248873G>T	ENST00000371941.3	-	35	4490	c.4468C>A	c.(4468-4470)Cag>Aag	p.Q1490K	PREX1_ENST00000396220.1_Nonsense_Mutation_p.C1524*	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1490					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGTCCTGCTGCAAATCCTCC	0.647																																																	0													136	131	133					20																	47248873		2203	4300	6503	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4468C>A	20.37:g.47248873G>T	ENSP00000361009:p.Gln1490Lys		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C1524*	ENST00000371941.3	37	c.4572	CCDS13410.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.480410|8.480410	0.98829|0.98829	.|.	.|.	ENSG00000124126|ENSG00000124126	ENST00000396220|ENST00000371941	.|T	.|0.38077	.|1.16	4.49|4.49	3.51|3.51	0.40186|0.40186	.|.	.|0.250921	.|0.26995	.|U	.|0.021459	.|T	.|0.40694	.|0.1127	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	A|A	1|1	.|P;P	.|0.39071	.|0.658;0.604	.|B;B	.|0.38755	.|0.22;0.281	.|T	.|0.60611	.|-0.7229	.|9	0.87932|0.87932	D|D	0|0	.|.	14.2702|14.2702	0.66147|0.66147	0.0:0.1501:0.8498:0.0|0.0:0.1501:0.8498:0.0	.|.	.|1490;787	.|Q8TCU6;Q8TCU6-2	.|PREX1_HUMAN;.	X|K	1524|1490	.|ENSP00000361009:Q1490K	ENSP00000379522:C1524X|ENSP00000361009:Q1490K	C|Q	-|-	3|1	2|0	PREX1|PREX1	46682280|46682280	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.202000|0.202000	0.24057|0.24057	7.542000|7.542000	0.82095|0.82095	0.840000|0.840000	0.34995|0.34995	0.456000|0.456000	0.33151|0.33151	TGC|CAG	PREX1	-	NULL	ENSG00000124126		0.647	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	-	0	61	0	G	NM_020820		47248873	-1	tier1	-	no_errors	ENST00000396220	ensembl	human	known	74_37	nonsense	15.22	78	14	SNP	1.000	T	T	47248873	G	T	47248873	3	4	25	1	0	0	0	0	1	0	0	0	12518	1328	46	3	535	3	PREX1	20	47248873	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	10608022	47248873	15776647	200	6540											
KCNG1	3755	genome.wustl.edu	37	chr20	49626850	49626850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgctgtagtcgtagtcaGaattgtctcccggtaagagg	8	10	14	9	4	2	2	1	0	1	2	4	2	2	2	1	2	0	4	1	2	4	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr20:49626850G>T	ENST00000371571.4	-	2	311	c.26C>A	c.(25-27)tCt>tAt	p.S9Y	KCNG1_ENST00000506387.1_5'Flank|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.S9Y	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	9					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTCGTAGTCAGAATTGTCTCC	0.637																																																	0													39	42	41					20																	49626850		2124	4121	6245	SO:0001583	missense	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.26C>A	20.37:g.49626850G>T	ENSP00000360626:p.Ser9Tyr		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S9Y	ENST00000371571.4	37	c.26	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717924	0.89205	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216;ENST00000424171;ENST00000433903;ENST00000447736	D;D;D;D	0.98178	-4.77;-2.88;-3.45;-3.82	5.73	5.73	0.89815	.	0.239516	0.44483	D	0.000457	D	0.98817	0.9601	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.87578	0.998;0.687	D	0.99191	1.0870	9	.	.	.	.	19.9786	0.97317	0.0:0.0:1.0:0.0	.	9;9	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	Y	9	ENSP00000360626:S9Y;ENSP00000379338:S9Y;ENSP00000394075:S9Y;ENSP00000394093:S9Y	.	S	-	2	0	KCNG1	49060257	1.000000	0.71417	0.691000	0.30163	0.970000	0.65996	9.476000	0.97823	2.720000	0.93068	0.555000	0.69702	TCT	KCNG1	-	NULL	ENSG00000026559		0.637	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	-	0	43	0	G	NM_002237		49626850	-1	tier1	-	no_errors	ENST00000371571	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	T	T	49626850	G	T	49626850	3	4	25	1	0	0	0	0	1	0	0	0	8054	942	33	3	1523	3	KCNG1	20	49626850	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	2377977	49626850	13398670	201	6541											
KCNQ2	3785	genome.wustl.edu	37	chr20	62038650	62038650	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttggccccaaagtaggcctCggtctctgtcggggggatgc	5	10	15	11	2	1	0	0	0	1	0	4	1	1	1	3	6	1	1	3	6	2	2	rs545544936	byFrequency	TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr20:62038650C>G	ENST00000359125.2	-	17	2140	c.1966G>C	c.(1966-1968)Gag>Cag	p.E656Q	KCNQ2_ENST00000359689.1_Missense_Mutation_p.E656Q|KCNQ2_ENST00000354587.3_Missense_Mutation_p.E664Q|KCNQ2_ENST00000360480.3_Missense_Mutation_p.E628Q|KCNQ2_ENST00000357249.2_Missense_Mutation_p.E638Q|KCNQ2_ENST00000370224.1_Missense_Mutation_p.E664Q|KCNQ2_ENST00000344462.4_Missense_Mutation_p.E625Q	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	656					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AAGTAGGCCTCGGTCTCTGTC	0.612																																																	0													24	28	27					20																	62038650		2198	4298	6496	SO:0001583	missense	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1966G>C	20.37:g.62038650C>G	ENSP00000352035:p.Glu656Gln		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E664Q	ENST00000359125.2	37	c.1990	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993967	0.54041	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	D;D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	5.06	5.06	0.68205	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.194310	0.44483	D	0.000453	D	0.99327	0.9764	L	0.51422	1.61	0.52501	D	0.999956	D;D;D;D	0.76494	0.998;0.999;0.998;0.999	D;D;D;D	0.71184	0.937;0.96;0.953;0.972	D	0.99949	1.1511	10	0.18276	T	0.48	-36.4776	18.4055	0.90535	0.0:1.0:0.0:0.0	.	628;638;625;656	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	Q	638;656;626;664;656;625;628;652;664	ENSP00000349789:E638Q;ENSP00000352035:E656Q;ENSP00000359246:E626Q;ENSP00000346601:E664Q;ENSP00000352718:E656Q;ENSP00000399612:E625Q;ENSP00000353668:E628Q;ENSP00000339611:E652Q;ENSP00000359244:E664Q	ENSP00000339611:E652Q	E	-	1	0	KCNQ2	61509094	1.000000	0.71417	0.938000	0.37757	0.419000	0.31324	5.800000	0.69108	2.359000	0.80004	0.491000	0.48974	GAG	KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000075043		0.612	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0	48	0	C	NM_172109		62038650	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	G	G	62038650	C	G	62038650	3	3	25	1	0	0	0	0	1	0	0	0	8110	893	31	5	656	5	KCNQ2	20	62038650	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	12411800	62038650	986870	202	6542											
HUNK	30811	genome.wustl.edu	37	chr21	33340686	33340686	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgccctgtaatgtcacCtatcccaacaggtaatttcg	12	11	7	11	1	1	0	1	0	0	0	3	0	2	0	3	1	2	2	3	1	5	4			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr21:33340686C>G	ENST00000270112.2	+	6	1359	c.999C>G	c.(997-999)acC>acG	p.T333T		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	333					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GTAATGTCACCTATCCCAACA	0.542																																																	0													88	83	84					21																	33340686		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.999C>G	21.37:g.33340686C>G				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T333	ENST00000270112.2	37	c.999	CCDS13610.1	21																																																																																			HUNK	-	superfamily_Kinase-like_dom	ENSG00000142149		0.542	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	-	0	36	0	C	NM_014586		33340686	1	tier1	-	no_errors	ENST00000270112	ensembl	human	known	74_37	silent	20.00	36	9	SNP	1.000	G	G	33340686	C	G	33340686	2	3	25	1	0	0	0	0	0	0	0	1	7485	668	24	5		5	HUNK	21	33340686	Silent	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		33340686	14789209	203	6543											
CYTSA	23384	genome.wustl.edu	37	chr22	24743079	24743079	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccataagtggaccaatctCaacatccaaacccctgacag	14	8	5	14	0	1	1	1	1	1	0	4	2	3	2	5	1	2	0	5	1	4	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr22:24743079C>G	ENST00000314328.9	+	11	2963	c.2678C>G	c.(2677-2679)tCa>tGa	p.S893*	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S893*|SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S893*	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	893					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GGACCAATCTCAACATCCAAA	0.398																																																	0													113	105	108					22																	24743079		2203	4300	6503	SO:0001587	stop_gained	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2678C>G	22.37:g.24743079C>G	ENSP00000325785:p.Ser893*		B7Z758|F5H1H6|O15081	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.S893*	ENST00000314328.9	37	c.2678	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	c	40	8.363979	0.98779	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	.	.	.	5.12	5.12	0.69794	.	0.374632	0.28273	N	0.015944	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-6.2009	14.4279	0.67227	0.0:1.0:0.0:0.0	.	.	.	.	X	893	.	ENSP00000325785:S893X	S	+	2	0	SPECC1L	23073079	0.993000	0.37304	0.739000	0.30968	0.978000	0.69477	4.525000	0.60559	2.564000	0.86499	0.313000	0.20887	TCA	SPECC1L	-	NULL	ENSG00000100014		0.398	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	-	0	40	0	C	NM_015330		24743079	1	tier1	-	no_errors	ENST00000314328	ensembl	human	known	74_37	nonsense	18.64	47	11	SNP	0.406	G	G	24743079	C	G	24743079	4	3	25	1	0	0	0	0	0	1	0	0	4218	838	29	5	2712	5	CYTSA	22	24743079	Nonsense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09		24743079	26561487	204	6544											
LIMK2	3985	genome.wustl.edu	37	chr22	31656020	31656020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggcttctccgtgtccgtgGagagtgcctgctccaactac	5	10	13	13	2	1	1	0	0	1	1	4	2	3	1	4	3	4	2	4	3	2	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr22:31656020G>C	ENST00000331728.4	+	5	622	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	LIMK2_ENST00000340552.4_Missense_Mutation_p.E149Q|LIMK2_ENST00000333611.4_Missense_Mutation_p.E149Q|LIMK2_ENST00000406516.1_Missense_Mutation_p.E92Q|LIMK2_ENST00000444929.2_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	170	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CGTGTCCGTGGAGAGTGCCTG	0.562																																																	0													68	62	64					22																	31656020		2203	4300	6503	SO:0001583	missense	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.508G>C	22.37:g.31656020G>C	ENSP00000332687:p.Glu170Gln		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E170Q	ENST00000331728.4	37	c.508	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231708	0.58777	.	.	ENSG00000182541	ENST00000406516;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.75	5.75	0.90469	PDZ/DHR/GLGF (4);	0.286819	0.39615	N	0.001316	T	0.35364	0.0929	L	0.36672	1.1	0.80722	D	1	B;P;B;B	0.37612	0.267;0.602;0.081;0.337	B;B;B;B	0.43103	0.213;0.408;0.221;0.141	T	0.09271	-1.0682	10	0.66056	D	0.02	-24.7515	18.9302	0.92561	0.0:0.0:1.0:0.0	.	202;149;170;92	F5GY29;Q7L3H5;P53671;B5MC51	.;.;LIMK2_HUMAN;.	Q	92;170;202;149;149	ENSP00000384602:E92Q;ENSP00000332687:E170Q;ENSP00000330470:E149Q;ENSP00000339916:E149Q	ENSP00000332687:E170Q	E	+	1	0	LIMK2	29986020	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.951000	0.56684	2.714000	0.92807	0.561000	0.74099	GAG	LIMK2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000182541		0.562	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	-	0	25	0	G	NM_016733		31656020	1	tier1	-	no_errors	ENST00000331728	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.999	C	C	31656020	G	C	31656020	3	2	25	1	0	0	0	0	1	0	0	0	8831	1175	41	5	583	5	LIMK2	22	31656020	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	6912941	31656020	19648546	205	6545											
ADSL	158	genome.wustl.edu	37	chr22	40754947	40754947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatctccagaacttgaagCgtgtccgagatgacctgcgc	9	9	12	11	3	1	4	0	2	1	2	3	6	2	5	3	1	3	0	3	1	2	1	rs371892194		TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr22:40754947C>T	ENST00000216194.7	+	5	618	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	ADSL_ENST00000454266.2_Missense_Mutation_p.R202C|ADSL_ENST00000342312.6_Missense_Mutation_p.R188C	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	188					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAACTTGAAGCGTGTCCGAGA	0.517																																					Colon(4;65 130 1097 1516)												0													146	129	135					22																	40754947		2203	4300	6503	SO:0001583	missense	0			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.562C>T	22.37:g.40754947C>T	ENSP00000216194:p.Arg188Cys		B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase	p.R202C	ENST00000216194.7	37	c.604	CCDS14001.1	22	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332570	0.81801	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.99399	-5.83;-5.83;-5.83	6.05	5.02	0.67125	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.71870	0.969;0.957;0.975;0.975	D	0.98419	1.0576	10	0.42905	T	0.14	-14.0267	16.5955	0.84795	0.1313:0.8687:0.0:0.0	.	202;188;188;188	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	C	188;202;8;188	ENSP00000216194:R188C;ENSP00000390107:R202C;ENSP00000341429:R188C	ENSP00000216194:R188C	R	+	1	0	ADSL	39084893	1.000000	0.71417	0.139000	0.22197	0.914000	0.54420	4.205000	0.58466	1.519000	0.48950	0.650000	0.86243	CGT	ADSL	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Pur_lyase	ENSG00000239900		0.517	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	-	0	41	0	C	NM_000026		40754947	1	tier1	-	no_errors	ENST00000454266	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	T	T	40754947	C	T	40754947	3	4	25	1	0	0	0	0	1	0	0	0	346	768	27	1	580	1	ADSL	22	40754947	Missense_Mutation	SNP	C	TCGA-IG-A51D-01A-11D-A27G-09	9098927	40754947	10549619	206	6546											
SMC1B	27127	genome.wustl.edu	37	chr22	45779352	45779352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacatggatttacctttaGctcttggattttctggcttc	7	18	8	8	0	2	1	0	1	2	0	3	3	2	3	1	3	2	2	1	3	2	8			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chr22:45779352G>T	ENST00000357450.4	-	12	2052	c.2053C>A	c.(2053-2055)Cta>Ata	p.L685I	SMC1B_ENST00000404354.3_Missense_Mutation_p.L685I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	685					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTTACCTTTAGCTCTTGGATT	0.343																																																	0													193	177	182					22																	45779352		1809	4066	5875	SO:0001583	missense	0			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"Structural maintenance of chromosomes proteins"	11112	protein-coding gene	gene with protein product		608685	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2053C>A	22.37:g.45779352G>T	ENSP00000350036:p.Leu685Ile		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.L685I	ENST00000357450.4	37	c.2053	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767867	0.69878	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;T	0.82167	-1.58;-1.49	5.89	3.45	0.39498	RecF/RecN/SMC (1);	0.000000	0.42172	D	0.000757	D	0.85004	0.5598	L	0.61218	1.895	0.51482	D	0.999924	P;D;D	0.59357	0.844;0.985;0.985	P;P;P	0.57846	0.557;0.828;0.828	T	0.83072	-0.0142	10	0.39692	T	0.17	.	7.6231	0.28197	0.5163:0.0:0.4837:0.0	.	685;685;685	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	I	685	ENSP00000350036:L685I;ENSP00000385902:L685I	ENSP00000350036:L685I	L	-	1	2	SMC1B	44158016	0.916000	0.31088	0.998000	0.56505	0.994000	0.84299	0.642000	0.24735	1.327000	0.45338	0.655000	0.94253	CTA	SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.343	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322256.2		0	52	0	G	NM_148674		45779352	-1			no_errors	ENST00000357450	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.931	T	T	45779352	G	T	45779352	3	4	25	1	0	0	0	0	1	0	0	0	14827	962	34	3	1710	3	SMC1B	22	45779352	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	5024405	45779352	5525214	207	6547											
CSF2RA	1438	genome.wustl.edu	37	chrX	1409284	1409284	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagactcaggaacccatgtGggatgtcacctggataacct	12	8	10	11	0	2	1	2	0	0	1	2	4	2	4	3	3	2	0	3	3	3	1			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chrX:1409284G>T	ENST00000381524.3	+	7	714	c.528G>T	c.(526-528)gtG>gtT	p.V176V	CSF2RA_ENST00000381509.3_Silent_p.V176V|CSF2RA_ENST00000417535.2_Silent_p.V176V|CSF2RA_ENST00000501036.2_Silent_p.V43V|CSF2RA_ENST00000355432.3_Silent_p.V176V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.V176V|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000432318.2_Silent_p.V176V|CSF2RA_ENST00000381529.3_Silent_p.V176V|CSF2RA_ENST00000361536.3_Silent_p.V176V|CSF2RA_ENST00000355805.2_Silent_p.V176V|BX649553.3_ENST00000581137.1_RNA			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	176					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.V176V(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAACCCATGTGGGATGTCACC	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												3	Substitution - coding silent(3)	lung(3)											304	293	297					X																	1409284		2203	4296	6499	SO:0001819	synonymous_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.528G>T	X.37:g.1409284G>T			A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.V176	ENST00000381524.3	37	c.528	CCDS35191.1	X																																																																																			CSF2RA	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000198223		0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	-	0	101	0	G			1409284	1	tier1	-	no_errors	ENST00000417535	ensembl	human	known	74_37	silent	18.42	93	21	SNP	0.012	T	T	1409284	G	T	1409284	2	4	25	1	0	0	0	0	0	0	0	1	3943	1335	47	3		3	CSF2RA	23	1409284	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09		1409284	153861276	208	6548											
RBBP7	5931	genome.wustl.edu	37	chrX	16864049	16864050	+	Frame_Shift_Del	DEL	CT	CT	-																															tgaaatcttagcagtgtgtcCtccatgaataaactgttaca																										TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chrX:16864049_16864050delCT	ENST00000380087.2	-	11	1470_1471	c.1110_1111delAG	c.(1108-1113)ggaggafs	p.GG370fs	RBBP7_ENST00000380084.4_Frame_Shift_Del_p.GG414fs|RBBP7_ENST00000404022.1_Frame_Shift_Del_p.GG361fs			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	370					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCAGTGTGTCCTCCATGAATAA	0.366																																																	0																																										SO:0001589	frameshift_variant	0			U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"WD repeat domain containing"	9890	protein-coding gene	gene with protein product	"G1/S transition control protein-binding protein RbAp46", "retinoblastoma-binding protein 7", "retinoblastoma-binding protein RbAp46", "histone acetyltransferase type B subunit 2", "retinoblastoma-binding protein p46"	300825	"retinoblastoma-binding protein 7"			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1110_1111delAG	X.37:g.16864049_16864050delCT	ENSP00000369427:p.Gly370fs		Q5JP00	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G371fs	ENST00000380087.2	37	c.1111_1110	CCDS14179.1	X																																																																																			RBBP7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000102054		0.366	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP7	HGNC	protein_coding	OTTHUMT00000055920.2		0	17	0	CT	NM_002893		16864050	-1	tier1		no_errors	ENST00000380087	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	1.000:1.000	-	-	16864050	CT	-	16864049	7	5	25	1	0	1	0	1	0	0	0	0	13149	690	24	0	174	0	RBBP7	23	16864049	Frame_Shift_Del	DEL	CT	TCGA-IG-A51D-01A-11D-A27G-09	15454765	16864049	138406511	209	6549											
KDM6A	7403	genome.wustl.edu	37	chrX	44950110	44950110	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctttttgaaatgattaaGtaagtcttttctaaaactgc	14	16	6	5	0	2	2	0	2	2	0	2	2	2	2	0	0	3	2	0	0	6	7			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chrX:44950110G>A	ENST00000377967.4	+	26	3919		c.e26+1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAATGATTAAGTAAGTCTTTT	0.348			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											140	126	131					X																	44950110		2203	4300	6503	SO:0001630	splice_region_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3878+1G>A	X.37:g.44950110G>A			Q52LL9|Q5JVQ7	Splice_Site	SNP	-	e26+1	ENST00000377967.4	37	c.3899+1	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544186	0.65198	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6992	0.91614	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44835054	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.361000	0.80049	0.529000	0.55759	.	KDM6A	-	-	ENSG00000147050		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0	36	0	G	NM_021140	Intron	44950110	1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	splice_site	48.39	16	15	SNP	1.000	A	A	44950110	G	A	44950110	5	1	25	1	0	0	0	0	0	0	1	0	8164	1043	36	3	3981	3	KDM6A	23	44950110	Splice_Site	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	28086061	44950110	110320450	210	6550											
FAM46D	169966	genome.wustl.edu	37	chrX	79698219	79698219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaattattgttaaagatGccagattgaatggttccgta	14	13	10	4	1	0	3	0	1	0	2	1	4	1	4	2	2	1	3	2	2	7	6			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chrX:79698219G>A	ENST00000308293.5	+	3	420	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	FAM46D_ENST00000538312.1_Missense_Mutation_p.A61T	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	61										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTTAAAGATGCCAGATTGAA	0.398																																																	0													135	118	124					X																	79698219		2203	4300	6503	SO:0001583	missense	0			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.181G>A	X.37:g.79698219G>A	ENSP00000308575:p.Ala61Thr		B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	pfam_DUF1693	p.A61T	ENST00000308293.5	37	c.181	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	G	2.188	-0.386019	0.04966	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.22336	1.96;1.96	4.38	-2.88	0.05682	Domain of unknown function DUF1693 (1);	0.452396	0.23356	N	0.049063	T	0.05640	0.0148	N	0.02011	-0.69	0.21020	N	0.999809	B	0.02656	0.0	B	0.04013	0.001	T	0.16837	-1.0389	10	0.52906	T	0.07	-0.7148	3.5537	0.07857	0.4312:0.0:0.1651:0.4037	.	61	Q8NEK8	FA46D_HUMAN	T	61	ENSP00000443410:A61T;ENSP00000308575:A61T	ENSP00000308575:A61T	A	+	1	0	FAM46D	79584875	0.999000	0.42202	0.044000	0.18714	0.001000	0.01503	0.957000	0.29215	-0.959000	0.03618	-2.092000	0.00371	GCC	FAM46D	-	pfam_DUF1693	ENSG00000174016		0.398	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	-	0	24	0	G	NM_152630		79698219	1	tier1	-	no_errors	ENST00000308293	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.812	A	A	79698219	G	A	79698219	3	1	25	1	0	0	0	0	1	0	0	0	5590	1319	46	3	183	3	FAM46D	23	79698219	Missense_Mutation	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	34748109	79698219	75572341	211	6551											
TEX13A	56157	genome.wustl.edu	37	chrX	104464794	104464794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgatttgtgcagtttggcGaagccgtgcagccaccgcac	7	9	13	12	3	0	1	0	1	0	0	0	2	0	1	3	1	4	5	3	1	1	2			TCGA-IG-A51D-01A-11D-A27G-09	TCGA-IG-A51D-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	693188df-7f65-487e-bd59-ab40af89aa10	8b30e90d-07cd-49de-8dc7-4fdefd507ef0	g.chrX:104464794G>A	ENST00000413579.1	-	2	399	c.288C>T	c.(286-288)ttC>ttT	p.F96F	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.F96F|TEX13A_ENST00000372578.3_Silent_p.F96F|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	96							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCAGTTTGGCGAAGCCGTGCA	0.632													G|||	1	0.000264901	0	0	3775	,	,		11240	0.001		0	False		,,,				2504	0																0													32	32	32					X																	104464794		2202	4286	6488	SO:0001819	synonymous_variant	0			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.288C>T	X.37:g.104464794G>A			B1B1G8|Q32NB6	Silent	SNP	pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.F96	ENST00000413579.1	37	c.288		X																																																																																			TEX13A	-	NULL	ENSG00000133149		0.632	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding			0	15	0	G	NM_031274		104464794	-1			no_errors	ENST00000413579	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.000	A	A	104464794	G	A	104464794	2	1	25	1	0	0	0	0	0	0	0	1	15823	1049	37	1		1	TEX13A	23	104464794	Silent	SNP	G	TCGA-IG-A51D-01A-11D-A27G-09	24766575	104464794	50805766	212	6552											
ATAD3B	83858	genome.wustl.edu	37	chr1	1431023	1431023	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatccggagtccaaggcgaGaccctcacctcatggagcct	9	7	10	15	2	2	1	2	0	0	1	4	4	4	3	5	3	1	0	5	3	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:1431023G>C	ENST00000308647.7	+	16	1889	c.1773G>C	c.(1771-1773)gaG>gaC	p.E591D		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	591						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCAAGGCGAGACCCTCACCT	0.657																																																	0													41	43	42					1																	1431023		2203	4299	6502	SO:0001583	missense	0			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1773G>C	1.37:g.1431023G>C	ENSP00000311766:p.Glu591Asp		A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E591D	ENST00000308647.7	37	c.1773	CCDS30.1	1	.	.	.	.	.	.	.	.	.	.	g	2.411	-0.335308	0.05278	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.93604	-3.25	1.01	1.01	0.19927	.	3.332670	0.01621	U	0.023033	D	0.83852	0.5344	N	0.08118	0	0.21697	N	0.999582	B;B	0.25904	0.137;0.0	B;B	0.18263	0.021;0.0	T	0.76713	-0.2858	10	0.18710	T	0.47	.	5.3884	0.16229	0.0:0.0:1.0:0.0	.	545;591	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	D	425;591	ENSP00000311766:E591D	ENSP00000311766:E591D	E	+	3	2	ATAD3B	1420886	0.033000	0.19621	0.001000	0.08648	0.004000	0.04260	1.103000	0.31062	0.847000	0.35167	0.194000	0.17425	GAG	ATAD3B	-	NULL	ENSG00000160072		0.657	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	-	0	81	0	G	NM_031921		1431023	1	tier1	-	no_errors	ENST00000308647	ensembl	human	known	74_37	missense	6.54	100	7	SNP	0.002	C	C	1431023	G	C	1431023	3	2	26	1	0	0	0	0	1	0	0	0	1075	933	33	5	1835	5	ATAD3B	1	1431023	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		1431023	247819598	1	6553											
CCDC27	148870	genome.wustl.edu	37	chr1	3673349	3673349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttcgattacttgcggaaGaggagaaaatcccagacttt	13	10	11	7	2	0	3	0	0	0	3	2	7	1	4	1	2	2	1	1	2	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:3673349G>A	ENST00000294600.2	+	4	690	c.606G>A	c.(604-606)aaG>aaA	p.K202K		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	202										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACTTGCGGAAGAGGAGAAAAT	0.557																																																	0													80	79	79					1																	3673349		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.606G>A	1.37:g.3673349G>A			Q5TBV3|Q96M50	Missense_Mutation	SNP	NULL	p.R196K	ENST00000294600.2	37	c.587	CCDS50.1	1																																																																																			CCDC27	-	NULL	ENSG00000162592		0.557	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	-	0	26	0	G	NM_152492		3673349	1	tier1	-	no_errors	ENST00000462521	ensembl	human	known	74_37	missense	23.08	40	12	SNP	0.000	A	A	3673349	G	A	3673349	2	1	26	1	0	0	0	0	0	0	0	1	2808	933	33	3		3	CCDC27	1	3673349	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2242326	3673349	245577272	2	6554											
NPHP4	261734	genome.wustl.edu	37	chr1	5947473	5947473	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcgtattcagttgccacGacctcaagctcgtgggaggc	7	10	12	12	3	2	0	2	0	0	0	4	2	2	1	2	2	3	4	2	2	2	3	rs371647995		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:5947473G>A	ENST00000378156.4	-	18	2623	c.2358C>T	c.(2356-2358)gtC>gtT	p.V786V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	786					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTGCCACGACCTCAAGCT	0.642																																																	0								G		0,4146		0,0,2073	50	59	56		2358	-10.9	0	1		56	2,8424		0,2,4211	no	coding-synonymous	NPHP4	NM_015102.3		0,2,6284	AA,AG,GG		0.0237,0.0,0.0159		786/1427	5947473	2,12570	2073	4213	6286	SO:0001819	synonymous_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2358C>T	1.37:g.5947473G>A			Q8IWC0	Silent	SNP	NULL	p.V786	ENST00000378156.4	37	c.2358	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.642	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	-	0	106	0	G			5947473	-1	tier1	-	no_errors	ENST00000378156	ensembl	human	known	74_37	silent	23.23	119	36	SNP	0.010	A	A	5947473	G	A	5947473	2	1	26	1	0	0	0	0	0	0	0	1	10620	1045	37	1		1	NPHP4	1	5947473	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2274124	5947473	243303148	3	6555											
ZBTB48	3104	genome.wustl.edu	37	chr1	6642271	6642271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctagcagctgagcctgctGagaacagaaaaggtacagcg	13	5	12	11	1	0	3	0	2	0	2	0	4	0	3	2	1	7	4	2	1	5	2	rs549375724		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:6642271G>A	ENST00000377674.4	+	3	1002	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	282					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGCCTGCTGAGAACAGAAA	0.527													G|||	1	0.000199681	8e-04	0	5008	,	,		19485	0		0	False		,,,				2504	0				Esophageal Squamous(125;1449 1657 4031 29866 49542)												0													70	71	71					1																	6642271		2203	4300	6503	SO:0001583	missense	0			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.844G>A	1.37:g.6642271G>A	ENSP00000366902:p.Glu282Lys		Q5SY19	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E282K	ENST00000377674.4	37	c.844	CCDS84.1	1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668030	0.67814	.	.	ENSG00000204859	ENST00000319084;ENST00000435905;ENST00000377674	T;T;T	0.23754	1.96;1.89;3.0	5.67	4.75	0.60458	.	0.319885	0.35436	N	0.003206	T	0.12732	0.0309	N	0.08118	0	0.29377	N	0.863608	B	0.27559	0.181	B	0.23275	0.045	T	0.09292	-1.0681	10	0.18276	T	0.48	-18.6233	13.7024	0.62618	0.076:0.0:0.924:0.0	.	282	P10074	ZBT48_HUMAN	K	282	ENSP00000313416:E282K;ENSP00000416054:E282K;ENSP00000366902:E282K	ENSP00000313416:E282K	E	+	1	0	ZBTB48	6564858	1.000000	0.71417	0.983000	0.44433	0.965000	0.64279	2.982000	0.49337	2.677000	0.91161	0.561000	0.74099	GAG	ZBTB48	-	NULL	ENSG00000204859		0.527	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB48	HGNC	protein_coding	OTTHUMT00000004193.1	-	0	45	0	G	NM_005341		6642271	1	tier1	-	no_errors	ENST00000377674	ensembl	human	known	74_37	missense	22.54	55	16	SNP	0.991	A	A	6642271	G	A	6642271	3	1	26	1	0	0	0	0	1	0	0	0	17597	1291	45	3	850	3	ZBTB48	1	6642271	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	694798	6642271	242608350	4	6556											
UBR4	23352	genome.wustl.edu	37	chr1	19510631	19510631	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagagttcagcatggaagaGgtgatgaagttcaaaatgtt	14	10	13	4	1	2	4	2	2	0	2	2	6	2	5	0	2	1	4	0	2	4	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:19510631G>T	ENST00000375254.3	-	16	2004	c.1977C>A	c.(1975-1977)acC>acA	p.T659T	UBR4_ENST00000375226.2_Silent_p.T659T|UBR4_ENST00000375267.2_Silent_p.T659T|UBR4_ENST00000375217.2_Silent_p.T659T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	659					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCATGGAAGAGGTGATGAAGT	0.428																																																	0													99	96	97					1																	19510631		2203	4300	6503	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.1977C>A	1.37:g.19510631G>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.T659	ENST00000375254.3	37	c.1977	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	22	0	G	NM_020765		19510631	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	T	T	19510631	G	T	19510631	2	4	26	1	0	0	0	0	0	0	0	1	16953	987	35	3		3	UBR4	1	19510631	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	12868360	19510631	229739990	5	6557											
CAPZB	832	genome.wustl.edu	37	chr1	19683172	19683172	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttcatggtgccagagccaGatttgttggtctgcagccac	7	11	13	10	0	2	2	1	0	1	2	2	2	2	2	3	3	4	3	3	3	0	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:19683172G>C	ENST00000375142.1	-	6	591	c.545C>G	c.(544-546)tCt>tGt	p.S182C	CAPZB_ENST00000433834.1_Missense_Mutation_p.S211C|CAPZB_ENST00000375144.1_Missense_Mutation_p.S170C|CAPZB_ENST00000264202.6_Missense_Mutation_p.S182C|CAPZB_ENST00000401084.2_Missense_Mutation_p.S182C|CAPZB_ENST00000264203.3_Missense_Mutation_p.S208C	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	182					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		GCCAGAGCCAGATTTGTTGGT	0.567																																																	0													193	206	202					1																	19683172		2105	4236	6341	SO:0001583	missense	0			U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.545C>G	1.37:g.19683172G>C	ENSP00000364284:p.Ser182Cys		Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	pfam_CapZ_beta,prints_CapZ_beta	p.S211C	ENST00000375142.1	37	c.632	CCDS55579.1	1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588381	0.66105	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375144;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202;ENST00000413711	.	.	.	5.43	5.43	0.79202	.	0.141133	0.64402	N	0.000007	T	0.53142	0.1778	L	0.28115	0.83	0.53688	D	0.999972	B;B;B;B	0.10296	0.001;0.001;0.003;0.001	B;B;B;B	0.12156	0.006;0.003;0.007;0.004	T	0.50701	-0.8797	9	0.66056	D	0.02	-14.2008	17.8626	0.88786	0.0:0.0:1.0:0.0	.	211;208;182;170	B1AK88;B1AK85;P47756-2;B1AK87	.;.;.;.	C	182;208;170;182;211;244;182;170	.	ENSP00000264202:S182C	S	-	2	0	CAPZB	19555759	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.292000	0.78731	2.571000	0.86741	0.558000	0.71614	TCT	CAPZB	-	pfam_CapZ_beta	ENSG00000077549		0.567	CAPZB-003	KNOWN	basic|CCDS	protein_coding	CAPZB	HGNC	protein_coding	OTTHUMT00000007260.1	-	0	56	0	G			19683172	-1	tier1	-	no_errors	ENST00000433834	ensembl	human	known	74_37	missense	7.45	87	7	SNP	1.000	C	C	19683172	G	C	19683172	3	2	26	1	0	0	0	0	1	0	0	0	2650	942	33	5	289	5	CAPZB	1	19683172	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	172541	19683172	229567449	6	6558											
MUL1	79594	genome.wustl.edu	37	chr1	20827622	20827622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcggctgcaggcggacaGagttgttgtccaggaccagt	7	8	17	9	2	0	1	0	0	0	1	1	3	1	3	2	5	1	4	2	5	0	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:20827622G>C	ENST00000264198.3	-	4	756	c.620C>G	c.(619-621)tCt>tGt	p.S207C		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	207					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CAGGCGGACAGAGTTGTTGTC	0.612																																																	0													89	86	87					1																	20827622		2203	4300	6503	SO:0001583	missense	0			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.620C>G	1.37:g.20827622G>C	ENSP00000264198:p.Ser207Cys		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	pfam_MULAN,pfscan_Znf_RING	p.S207C	ENST00000264198.3	37	c.620	CCDS208.1	1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077563	0.36662	.	.	ENSG00000090432	ENST00000264198	T	0.24723	1.84	6.16	4.25	0.50352	.	0.543212	0.22651	N	0.057340	T	0.23210	0.0561	L	0.38175	1.15	0.26519	N	0.974455	B	0.02656	0.0	B	0.06405	0.002	T	0.14364	-1.0475	10	0.56958	D	0.05	-10.7639	15.0254	0.71667	0.0:0.2703:0.7297:0.0	.	207	Q969V5	MUL1_HUMAN	C	207	ENSP00000264198:S207C	ENSP00000264198:S207C	S	-	2	0	MUL1	20700209	1.000000	0.71417	0.555000	0.28281	0.987000	0.75469	4.033000	0.57282	0.887000	0.36136	0.650000	0.86243	TCT	MUL1	-	pfam_MULAN	ENSG00000090432		0.612	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	HGNC	protein_coding	OTTHUMT00000007951.1	-	0	28	0	G	NM_024544		20827622	-1	tier1	-	no_errors	ENST00000264198	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.980	C	C	20827622	G	C	20827622	3	2	26	1	0	0	0	0	1	0	0	0	10022	942	33	5	442	5	MUL1	1	20827622	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1144450	20827622	228422999	7	6559											
HTR1D	3352	genome.wustl.edu	37	chr1	23520393	23520393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgtcacacaagatttggCcaaagttccaggtgtgggtg	11	10	13	7	0	1	2	1	0	0	2	2	2	2	2	2	3	0	1	2	3	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:23520393C>T	ENST00000374619.1	-	1	829	c.320G>A	c.(319-321)gGc>gAc	p.G107D	HTR1D_ENST00000314113.3_Missense_Mutation_p.G107D	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	107					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGATTTGGCCAAAGTTCCA	0.532																																																	0													224	194	204					1																	23520393		2203	4300	6503	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.320G>A	1.37:g.23520393C>T	ENSP00000363748:p.Gly107Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.G107D	ENST00000374619.1	37	c.320	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661077	0.88154	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.49720	0.77;0.77	5.6	5.6	0.85130	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83667	0.0164	10	0.87932	D	0	.	18.5989	0.91240	0.0:1.0:0.0:0.0	.	107	P28221	5HT1D_HUMAN	D	107	ENSP00000313661:G107D;ENSP00000363748:G107D	ENSP00000313661:G107D	G	-	2	0	HTR1D	23392980	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.648000	0.89879	0.655000	0.94253	GGC	HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000179546		0.532	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	-	0	54	0	C	NM_000864		23520393	-1	tier1	-	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	20.69	69	18	SNP	1.000	T	T	23520393	C	T	23520393	3	4	26	1	0	0	0	0	1	0	0	0	7465	739	26	3	817	3	HTR1D	1	23520393	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2692771	23520393	225730228	8	6560											
NIPAL3	57185	genome.wustl.edu	37	chr1	24766717	24766717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctcgtggtcagcattgCacttaacctccaggtaagtt	9	11	9	12	1	1	0	1	0	0	0	3	0	2	0	3	2	3	5	3	2	2	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:24766717C>T	ENST00000374399.4	+	3	517	c.149C>T	c.(148-150)gCa>gTa	p.A50V	NIPAL3_ENST00000339255.2_Missense_Mutation_p.A50V|NIPAL3_ENST00000358028.4_Missense_Mutation_p.A50V|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.A50V	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	50						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GTCAGCATTGCACTTAACCTC	0.532																																																	0													112	98	102					1																	24766717		2203	4300	6503	SO:0001583	missense	0			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.149C>T	1.37:g.24766717C>T	ENSP00000363520:p.Ala50Val		A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	pfam_Mg_trans_NIPA	p.A50V	ENST00000374399.4	37	c.149	CCDS30631.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.128243	0.94473	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66	5.09	5.09	0.68999	.	0.055193	0.64402	D	0.000001	D	0.95395	0.8505	M	0.81497	2.545	0.80722	D	1	D;D;D	0.71674	0.993;0.996;0.998	D;D;D	0.70487	0.91;0.916;0.969	D	0.95947	0.8951	10	0.87932	D	0	-13.87	18.4912	0.90848	0.0:1.0:0.0:0.0	.	50;50;50	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	V	50	ENSP00000363520:A50V;ENSP00000350722:A50V;ENSP00000343549:A50V;ENSP00000406509:A50V	ENSP00000343549:A50V	A	+	2	0	NIPAL3	24639304	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	6.387000	0.73191	2.369000	0.80426	0.655000	0.94253	GCA	NIPAL3	-	pfam_Mg_trans_NIPA	ENSG00000001461		0.532	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	HGNC	protein_coding	OTTHUMT00000276996.1	-	0	30	0	C	NM_020448		24766717	1	tier1	-	no_errors	ENST00000374399	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.999	T	T	24766717	C	T	24766717	3	4	26	1	0	0	0	0	1	0	0	0	10465	710	25	3	155	3	NIPAL3	1	24766717	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1246324	24766717	224483904	9	6561											
GMEB1	10691	genome.wustl.edu	37	chr1	29028959	29028959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttttaggtagcatcaCgcagattgccatctcagaag	11	12	9	9	1	2	2	2	0	1	2	3	2	2	2	1	1	2	4	1	1	3	5	rs201750134		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:29028959C>T	ENST00000294409.2	+	7	728	c.638C>T	c.(637-639)aCg>aTg	p.T213M	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Missense_Mutation_p.T203M|GMEB1_ENST00000361872.4_Missense_Mutation_p.T203M	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	213					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCATCACGCAGATTGCC	0.463																																																	0								C	MET/THR,MET/THR	0,4406		0,0,2203	125	119	121		638,608	5.5	1	1		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GMEB1	NM_006582.3,NM_024482.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	213/574,203/564	29028959	1,13005	2203	4300	6503	SO:0001583	missense	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.638C>T	1.37:g.29028959C>T	ENSP00000294409:p.Thr213Met		B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.T213M	ENST00000294409.2	37	c.638	CCDS327.1	1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203082	0.58234	0.0	1.16E-4	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	T;T;T	0.56275	0.47;0.47;0.47	5.46	5.46	0.80206	.	0.282614	0.39985	N	0.001210	T	0.45438	0.1342	N	0.03608	-0.345	0.31707	N	0.63995	P;D	0.71674	0.775;0.998	B;P	0.54346	0.064;0.749	T	0.58375	-0.7647	10	0.66056	D	0.02	-9.2314	18.2962	0.90147	0.0:1.0:0.0:0.0	.	213;203	Q9Y692;B1AT47	GMEB1_HUMAN;.	M	203;179;203;213	ENSP00000362922:T203M;ENSP00000355186:T203M;ENSP00000294409:T213M	ENSP00000294409:T213M	T	+	2	0	GMEB1	28901546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.054000	0.64275	2.861000	0.98227	0.650000	0.86243	ACG	GMEB1	-	NULL	ENSG00000162419		0.463	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	-	0	44	0	C	NM_006582		29028959	1	tier1	rs201750134	no_errors	ENST00000294409	ensembl	human	known	74_37	missense	21.25	63	17	SNP	1.000	T	T	29028959	C	T	29028959	3	4	26	1	0	0	0	0	1	0	0	0	6513	536	19	1	660	1	GMEB1	1	29028959	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	4262242	29028959	220221662	10	6562											
ZMYM6	9204	genome.wustl.edu	37	chr1	35452974	35452974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctaaatctgaagatagctCtgttagcttttcttcttcga	9	17	6	9	1	4	2	0	1	4	1	6	3	5	2	1	0	2	3	1	0	5	7			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:35452974C>G	ENST00000357182.4	-	16	3936	c.3709G>C	c.(3709-3711)Gag>Cag	p.E1237Q	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|RP11-244H3.1_ENST00000417456.1_RNA|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6NB_ENST00000373337.3_5'Flank	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1237					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GAAGATAGCTCTGTTAGCTTT	0.358																																																	0													86	83	84					1																	35452974		1826	4084	5910	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.3709G>C	1.37:g.35452974C>G	ENSP00000349708:p.Glu1237Gln		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.E1237Q	ENST00000357182.4	37	c.3709	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161749	0.01673	.	.	ENSG00000163867	ENST00000357182	T	0.20598	2.06	5.09	3.17	0.36434	Ribonuclease H-like (1);	0.463359	0.23692	N	0.045512	T	0.10294	0.0252	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33854	-0.9852	10	0.19147	T	0.46	2.2933	8.4794	0.33034	0.0:0.3319:0.5077:0.1604	.	1237	O95789	ZMYM6_HUMAN	Q	1237	ENSP00000349708:E1237Q	ENSP00000349708:E1237Q	E	-	1	0	ZMYM6	35225561	0.020000	0.18652	0.002000	0.10522	0.963000	0.63663	1.211000	0.32382	0.397000	0.25310	-0.127000	0.14921	GAG	ZMYM6	-	superfamily_RNaseH-like_dom	ENSG00000163867		0.358	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1		0	28	0	C	NM_007167		35452974	-1			no_errors	ENST00000357182	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.001	G	G	35452974	C	G	35452974	3	3	26	1	0	0	0	0	1	0	0	0	17752	922	32	5	272	5	ZMYM6	1	35452974	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	6424015	35452974	213797647	11	6563											
LEPRE1	64175	genome.wustl.edu	37	chr1	43213395	43213395	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagggagcactcaccGtcacggtcttggcatccagt	10	7	12	12	2	3	0	2	0	1	0	4	2	4	2	2	4	1	2	2	4	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:43213395G>A	ENST00000296388.5	-	13	1964	c.1913C>T	c.(1912-1914)aCg>aTg	p.T638M	LEPRE1_ENST00000236040.4_Splice_Site_p.T638M|LEPRE1_ENST00000397054.3_Splice_Site_p.T638M|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	638	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCACTCACCGTCACGGTCTT	0.478											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													190	190	190					1																	43213395		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1914+1C>T	1.37:g.43213395G>A		914	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.T638M	ENST00000296388.5	37	c.1913	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235588	0.79800	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.46819	0.86;0.86;0.86	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.054971	0.64402	D	0.000001	T	0.68732	0.3033	M	0.76170	2.325	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.977;0.987	T	0.73052	-0.4104	10	0.87932	D	0	-18.7453	16.0157	0.80439	0.0:0.0:1.0:0.0	.	638;503;638	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	M	638;638;638;503	ENSP00000380245:T638M;ENSP00000236040:T638M;ENSP00000296388:T638M	ENSP00000236040:T638M	T	-	2	0	LEPRE1	42985982	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	9.336000	0.96533	2.372000	0.80975	0.655000	0.94253	ACG	LEPRE1	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000117385		0.478	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	-	0	62	0	G	NM_022356	Missense_Mutation	43213395	-1	tier1	-	no_errors	ENST00000236040	ensembl	human	known	74_37	missense	28.00	54	21	SNP	1.000	A	A	43213395	G	A	43213395	5	1	26	1	0	0	0	0	0	0	1	0	8757	1159	40	1	328	1	LEPRE1	1	43213395	Splice_Site	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	7760421	43213395	206037226	12	6564											
ECHDC2	55268	genome.wustl.edu	37	chr1	53387333	53387333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaggggcgcaggaggcacaGaacgcgcagcatcggggcgc	9	1	18	13	5	0	1	0	0	0	1	1	2	0	2	1	6	2	4	1	6	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:53387333G>C	ENST00000371522.4	-	1	106	c.13C>G	c.(13-15)Ctg>Gtg	p.L5V	ECHDC2_ENST00000358358.5_Missense_Mutation_p.L5V|ECHDC2_ENST00000480312.2_5'Flank|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000536120.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	5					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						AGGAGGCACAGAACGCGCAGC	0.741																																																	0													4	6	5					1																	53387333		2065	4145	6210	SO:0001583	missense	0			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"enoyl Coenzyme A hydratase domain containing 2"				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.13C>G	1.37:g.53387333G>C	ENSP00000360577:p.Leu5Val		D3DQ36|Q9NV38	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.L5V	ENST00000371522.4	37	c.13	CCDS55600.1	1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029092	0.54790	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000467988	T;T;T	0.62364	0.16;0.11;0.03	4.77	4.77	0.60923	.	0.688914	0.12866	N	0.432711	T	0.43456	0.1248	N	0.08118	0	0.80722	D	1	B;P	0.38167	0.319;0.621	B;B	0.38803	0.146;0.282	T	0.31194	-0.9952	10	0.22706	T	0.39	.	13.165	0.59565	0.0:0.0:1.0:0.0	.	5;5	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	V	5	ENSP00000360577:L5V;ENSP00000351125:L5V;ENSP00000441962:L5V	ENSP00000351125:L5V	L	-	1	2	ECHDC2	53159921	0.006000	0.16342	0.883000	0.34634	0.113000	0.19764	0.494000	0.22467	2.481000	0.83766	0.555000	0.69702	CTG	ECHDC2	-	NULL	ENSG00000121310		0.741	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	-	0	17	0	G	NM_018281		53387333	-1	tier1	-	no_errors	ENST00000371522	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.952	C	C	53387333	G	C	53387333	3	2	26	1	0	0	0	0	1	0	0	0	4908	933	33	5	808	5	ECHDC2	1	53387333	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	10173938	53387333	195863288	13	6565											
TMEM61	199964	genome.wustl.edu	37	chr1	55457722	55457722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttctgcggagacgacaccGagtgccacacgctcctgctc	7	8	11	15	4	1	1	0	0	1	1	3	4	2	1	3	1	3	3	3	1	0	1	rs149361095	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:55457722G>A	ENST00000371268.3	+	3	853	c.579G>A	c.(577-579)ccG>ccA	p.P193P	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	193						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						AGACGACACCGAGTGCCACAC	0.597																																																	0								G		0,4406		0,0,2203	110	110	110		579	-5.7	0	1	dbSNP_134	110	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	TMEM61	NM_182532.1		0,6,6497	AA,AG,GG		0.0698,0.0,0.0461		193/211	55457722	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.579G>A	1.37:g.55457722G>A				Silent	SNP	NULL	p.P193	ENST00000371268.3	37	c.579	CCDS601.1	1																																																																																			TMEM61	-	NULL	ENSG00000143001		0.597	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM61	HGNC	protein_coding	OTTHUMT00000027683.1	-	0	22	0	G	NM_182532		55457722	1	tier1	rs149361095	no_errors	ENST00000371268	ensembl	human	known	74_37	silent	37.50	20	12	SNP	0.000	A	A	55457722	G	A	55457722	2	1	26	1	0	0	0	0	0	0	0	1	16235	1045	37	1		1	TMEM61	1	55457722	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2070389	55457722	193792899	14	6566											
WDR63	126820	genome.wustl.edu	37	chr1	85555813	85555813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattaggacatatcctaaaaAtgctactacgcaatattatc	16	13	4	8	1	0	0	0	0	0	0	2	1	1	1	1	1	3	2	1	1	11	8			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:85555813A>G	ENST00000294664.6	+	8	935	c.755A>G	c.(754-756)aAt>aGt	p.N252S	WDR63_ENST00000326813.8_Intron|WDR63_ENST00000370596.1_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	252										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATCCTAAAAATGCTACTACG	0.333																																																	0													42	44	43					1																	85555813		2201	4283	6484	SO:0001583	missense	0				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"WD repeat domain containing"	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.755A>G	1.37:g.85555813A>G	ENSP00000294664:p.Asn252Ser		A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.N252S	ENST00000294664.6	37	c.755	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892612	0.72524	.	.	ENSG00000162643	ENST00000294664	T	0.44482	0.92	5.63	5.63	0.86233	.	0.046654	0.85682	D	0.000000	T	0.54319	0.1851	M	0.88310	2.945	0.52501	D	0.999957	D	0.60160	0.987	P	0.53549	0.729	T	0.64765	-0.6330	10	0.54805	T	0.06	-0.6444	15.0202	0.71624	1.0:0.0:0.0:0.0	.	252	Q8IWG1	WDR63_HUMAN	S	252	ENSP00000294664:N252S	ENSP00000294664:N252S	N	+	2	0	WDR63	85328401	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.897000	0.75671	2.134000	0.65973	0.482000	0.46254	AAT	WDR63	-	NULL	ENSG00000162643		0.333	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	-	0	27	0	A	NM_145172		85555813	1	tier1	-	no_errors	ENST00000294664	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	G	G	85555813	A	G	85555813	3	3	26	1	0	0	0	0	1	0	0	0	17363	101	4	4	781	4	WDR63	1	85555813	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	30098091	85555813	163694808	15	6567											
HIST2H2BF	440689	genome.wustl.edu	37	chr1	149783597	149783597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcgcacggccgtctggatCtcgcgggatgtgatggtgga	6	8	18	9	5	2	1	0	1	2	0	3	4	2	4	1	6	0	1	1	6	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:149783597C>G	ENST00000369167.1	-	1	317	c.282G>C	c.(280-282)gaG>gaC	p.E94D	HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.E94D|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.E94D|HIST2H2BF_ENST00000469483.1_5'UTR|RP11-196G18.21_ENST00000420462.1_RNA	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	94					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					CCGTCTGGATCTCGCGGGATG	0.642																																																	0													22	22	22					1																	149783597		2203	4275	6478	SO:0001583	missense	0			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.282G>C	1.37:g.149783597C>G	ENSP00000358164:p.Glu94Asp		A8K0U9|B4DLA9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E94D	ENST00000369167.1	37	c.282	CCDS30846.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035229	0.75617	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.44881	0.91;0.91;0.91	3.56	3.56	0.40772	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000011	T	0.44891	0.1315	M	0.75884	2.315	0.46011	D	0.998811	P;B;B	0.37636	0.603;0.286;0.057	P;B;B	0.47206	0.541;0.387;0.194	T	0.54351	-0.8307	10	0.66056	D	0.02	.	14.937	0.70964	0.0:1.0:0.0:0.0	.	94;94;94	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	D	94	ENSP00000445831:E94D;ENSP00000407461:E94D;ENSP00000358164:E94D	ENSP00000358164:E94D	E	-	3	2	HIST2H2BF	148050221	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	6.976000	0.76135	2.287000	0.76781	0.195000	0.17529	GAG	HIST2H2BF	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000203814		0.642	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2	-	0	110	0	C	NM_001024599		149783597	-1	tier1	-	no_errors	ENST00000427880	ensembl	human	known	74_37	missense	8.78	187	18	SNP	1.000	G	G	149783597	C	G	149783597	3	3	26	1	0	0	0	0	1	0	0	0	7207	912	32	5	519	5	HIST2H2BF	1	149783597	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	64227784	149783597	99467024	16	6568											
CA14	23632	genome.wustl.edu	37	chr1	150236222	150236222	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtctaggtgtaggaatcTtggttggctgtctctgcctt	5	16	13	7	0	3	1	0	1	3	0	4	2	3	2	1	4	1	3	1	4	3	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:150236222T>C	ENST00000369111.4	+	10	1862	c.892T>C	c.(892-894)Ttg>Ctg	p.L298L	snoU13_ENST00000458929.1_RNA|APH1A_ENST00000461320.1_5'Flank	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	298					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TGTAGGAATCTTGGTTGGCTG	0.463																																																	0													256	249	251					1																	150236222		2203	4300	6503	SO:0001819	synonymous_variant	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.892T>C	1.37:g.150236222T>C			Q5TB24|Q8NCF4	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.L298	ENST00000369111.4	37	c.892	CCDS947.1	1																																																																																			CA14	-	NULL	ENSG00000118298		0.463	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2	-	0	40	0	T	NM_012113		150236222	1	tier1	-	no_errors	ENST00000369111	ensembl	human	known	74_37	silent	13.46	45	7	SNP	0.734	C	C	150236222	T	C	150236222	2	2	26	1	0	0	0	0	0	0	0	1	2522	1606	56	4		4	CA14	1	150236222	Silent	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	452625	150236222	99014399	17	6569											
HAX1	10456	genome.wustl.edu	37	chr1	154245820	154245820	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactctcagccacagagAtcccttttttggagggatga	9	11	9	12	0	1	2	1	1	1	1	4	5	3	4	3	2	1	0	3	2	0	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:154245820A>T	ENST00000328703.7	+	2	275	c.62A>T	c.(61-63)gAt>gTt	p.D21V	HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_Missense_Mutation_p.D21V|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	21	Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCACAGAGATCCCTTTTTT	0.493									Kostmann syndrome																																								0													70	71	71					1																	154245820		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.62A>T	1.37:g.154245820A>T	ENSP00000329002:p.Asp21Val		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	pirsf_HS1--assoc_X-1	p.D21V	ENST00000328703.7	37	c.62	CCDS1064.1	1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308553	0.81247	.	.	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.45668	0.89;0.89;0.89	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.58963	0.2159	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66015	-0.6028	10	0.87932	D	0	-18.0087	13.403	0.60893	1.0:0.0:0.0:0.0	.	21;21	O00165-2;O00165	.;HAX1_HUMAN	V	21	ENSP00000329002:D21V;ENSP00000435088:D21V;ENSP00000394920:D21V	ENSP00000329002:D21V	D	+	2	0	HAX1	152512444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.253000	0.72453	2.240000	0.73641	0.533000	0.62120	GAT	HAX1	-	pirsf_HS1--assoc_X-1	ENSG00000143575		0.493	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1	-	0	34	0	A	NM_006118		154245820	1	tier1	-	no_errors	ENST00000483970	ensembl	human	known	74_37	missense	43.33	34	26	SNP	1.000	T	T	154245820	A	T	154245820	3	4	26	1	0	0	0	0	1	0	0	0	7002	333	12	5	68	5	HAX1	1	154245820	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	4009598	154245820	95004801	18	6570											
RAG1AP1	55974	genome.wustl.edu	37	chr1	155110171	155110171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtcttcaccatcagCatgtacctctcaccactggc	8	11	7	15	0	4	0	3	0	2	0	5	0	4	0	3	1	3	3	3	1	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:155110171C>A	ENST00000368404.4	+	4	479	c.417C>A	c.(415-417)agC>agA	p.S139R	SLC50A1_ENST00000484157.1_Missense_Mutation_p.S74R|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S84R|SLC50A1_ENST00000368405.3_Intron|SLC50A1_ENST00000303343.8_Intron	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	139	MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TCACCATCAGCATGTACCTCT	0.542																																																	0													82	81	82					1																	155110171		2203	4300	6503	SO:0001583	missense	0			AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"Solute carriers"	30657	protein-coding gene	gene with protein product	"stromal cell protein"	613683	"recombination activating gene 1 activating protein 1"	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.417C>A	1.37:g.155110171C>A	ENSP00000357389:p.Ser139Arg		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	pfam_SWEET_sugar_transpr	p.S139R	ENST00000368404.4	37	c.417	CCDS1093.1	1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776664	0.70107	.	.	ENSG00000169241	ENST00000484157;ENST00000368404;ENST00000368401	.	.	.	4.98	2.94	0.34122	.	0.208111	0.56097	D	0.000022	T	0.66066	0.2752	M	0.87682	2.9	0.52099	D	0.999945	D;P	0.53745	0.962;0.645	P;P	0.57204	0.815;0.532	T	0.67417	-0.5676	9	0.25106	T	0.35	-10.9482	11.8607	0.52465	0.0:0.8919:0.0:0.1081	.	84;139	Q9BRV3-2;Q9BRV3	.;SWET1_HUMAN	R	74;139;84	.	ENSP00000357386:S84R	S	+	3	2	SLC50A1	153376795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.805000	0.38883	0.641000	0.30601	0.655000	0.94253	AGC	SLC50A1	-	pfam_SWEET_sugar_transpr	ENSG00000169241		0.542	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC50A1	HGNC	protein_coding	OTTHUMT00000085505.1	-	0	57	0	C	NM_018845		155110171	1	tier1	-	no_errors	ENST00000368404	ensembl	human	known	74_37	missense	26.47	75	27	SNP	1.000	A	A	155110171	C	A	155110171	3	1	26	1	0	0	0	0	1	0	0	0	13049	709	25	3	431	3	RAG1AP1	1	155110171	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	864351	155110171	94140450	19	6571											
RHBG	57127	genome.wustl.edu	37	chr1	156347784	156347784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccccatccccagcatGatcaatgctgacttttgtgc	7	13	7	14	0	2	2	1	2	1	0	3	2	3	2	4	0	4	2	4	0	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:156347784G>T	ENST00000368249.1	+	3	416	c.378G>T	c.(376-378)atG>atT	p.M126I	RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Missense_Mutation_p.M57I|RHBG_ENST00000368246.2_Missense_Mutation_p.M126I|RHBG_ENST00000255013.3_Missense_Mutation_p.M57I|RHBG_ENST00000451864.2_Missense_Mutation_p.M57I	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	126					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCCCAGCATGATCAATGCTG	0.632																																																	0													56	58	57					1																	156347784		2015	4184	6199	SO:0001583	missense	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.378G>T	1.37:g.156347784G>T	ENSP00000357232:p.Met126Ile		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.M126I	ENST00000368249.1	37	c.378		1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412206	0.62511	.	.	ENSG00000132677	ENST00000368249;ENST00000368246;ENST00000400992;ENST00000255013;ENST00000451864	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.16	5.16	0.70880	Ammonium transporter AmtB-like (3);	0.078488	0.85682	D	0.000000	T	0.14270	0.0345	L	0.42632	1.34	0.80722	D	1	B;P;B	0.35575	0.201;0.51;0.099	B;B;B	0.39840	0.126;0.311;0.088	T	0.02070	-1.1219	10	0.42905	T	0.14	-20.9614	16.1884	0.81971	0.0:0.0:1.0:0.0	.	126;57;163	Q9H310;Q9H310-3;Q5SZW5	RHBG_HUMAN;.;.	I	126;126;57;57;57	ENSP00000357232:M126I;ENSP00000357229:M126I;ENSP00000383777:M57I;ENSP00000255013:M57I;ENSP00000389836:M57I	ENSP00000255013:M57I	M	+	3	0	RHBG	154614408	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.102000	0.94226	2.688000	0.91661	0.561000	0.74099	ATG	RHBG	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom	ENSG00000132677		0.632	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	-	0	50	0	G	NM_001256395		156347784	1	tier1	-	no_errors	ENST00000368246	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	T	T	156347784	G	T	156347784	3	4	26	1	0	0	0	0	1	0	0	0	13369	1290	45	3	388	3	RHBG	1	156347784	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1237613	156347784	92902837	20	6572											
IQGAP3	128239	genome.wustl.edu	37	chr1	156524141	156524141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttaatcaggaccacagctGagagcatctccacagccacg	12	6	10	13	1	2	1	1	1	1	1	3	3	2	2	3	2	3	3	3	2	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:156524141G>A	ENST00000361170.2	-	13	1344	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	445					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACCACAGCTGAGAGCATCTC	0.617																																																	0													43	43	43					1																	156524141		2203	4300	6503	SO:0001583	missense	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.1334C>T	1.37:g.156524141G>A	ENSP00000354451:p.Ser445Leu		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.S445L	ENST00000361170.2	37	c.1334	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.244411	0.95272	.	.	ENSG00000183856	ENST00000361170	T	0.14022	2.54	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000003	T	0.30823	0.0777	M	0.78344	2.41	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.05468	-1.0883	10	0.54805	T	0.06	-5.3578	16.9657	0.86285	0.0:0.0:1.0:0.0	.	445	Q86VI3	IQGA3_HUMAN	L	445	ENSP00000354451:S445L	ENSP00000354451:S445L	S	-	2	0	IQGAP3	154790765	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.869000	0.99810	2.336000	0.79503	0.561000	0.74099	TCA	IQGAP3	-	NULL	ENSG00000183856		0.617	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	-	0	70	0	G	NM_178229		156524141	-1	tier1	-	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	21.62	58	16	SNP	1.000	A	A	156524141	G	A	156524141	3	1	26	1	0	0	0	0	1	0	0	0	7843	1294	45	3	3665	3	IQGAP3	1	156524141	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	176357	156524141	92726480	21	6573											
IFI16	3428	genome.wustl.edu	37	chr1	159002344	159002344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacaaacccgagaaacaatGaccccaagagcatgaagcta	20	3	7	11	1	0	4	0	2	0	2	0	5	0	4	3	0	5	2	3	0	7	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:159002344G>A	ENST00000295809.7	+	7	1447	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	IFI16_ENST00000430894.2_Missense_Mutation_p.D346N|IFI16_ENST00000368131.4_Missense_Mutation_p.D398N|IFI16_ENST00000340979.6_Missense_Mutation_p.D398N|IFI16_ENST00000359709.3_Missense_Mutation_p.D342N|IFI16_ENST00000368132.3_Missense_Mutation_p.D398N|IFI16_ENST00000448393.2_Missense_Mutation_p.D398N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	398					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GAGAAACAATGACCCCAAGAG	0.423																																																	0													93	88	90					1																	159002344		2203	4300	6503	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1192G>A	1.37:g.159002344G>A	ENSP00000295809:p.Asp398Asn		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.D398N	ENST00000295809.7	37	c.1192		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.22|12.22	1.871139|1.871139	0.33069|0.33069	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894|ENST00000448393	T;T;T;T;T|.	0.05580|.	3.52;3.42;3.53;3.53;3.48|.	2.15|2.15	0.199|0.199	0.15175|0.15175	.|.	.|.	.|.	.|.	.|.	T|T	0.15522|0.15522	0.0374|0.0374	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B;P|.	0.37955|.	0.024;0.612|.	B;B|.	0.37451|.	0.008;0.25|.	T|T	0.28996|0.28996	-1.0026|-1.0026	9|5	0.48119|.	T|.	0.1|.	.|.	4.2967|4.2967	0.10904|0.10904	0.3658:0.0:0.6342:0.0|0.3658:0.0:0.6342:0.0	.|.	346;398|.	E7EPR3;Q16666-2|.	.;.|.	N|I	398;398;398;398;346|218	ENSP00000295809:D398N;ENSP00000342741:D398N;ENSP00000357113:D398N;ENSP00000357114:D398N;ENSP00000394935:D346N|.	ENSP00000295809:D398N|.	D|M	+|+	1|3	0|0	IFI16|IFI16	157268968|157268968	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.182000|-0.182000	0.09726|0.09726	0.039000|0.039000	0.15632|0.15632	0.462000|0.462000	0.41574|0.41574	GAC|ATG	IFI16	-	NULL	ENSG00000163565		0.423	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0	32	0	G	NM_005531		159002344	1	tier1	-	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	19.67	49	12	SNP	0.000	A	A	159002344	G	A	159002344	3	1	26	1	0	0	0	0	1	0	0	0	7538	1290	45	3	1214	3	IFI16	1	159002344	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2478203	159002344	90248277	22	6574											
RXRG	6258	genome.wustl.edu	37	chr1	165377516	165377516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagttccgacttgtccatCtgcatgtctttcattttgga	6	16	7	12	1	3	0	1	0	2	0	5	2	5	1	3	1	1	2	3	1	0	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:165377516C>T	ENST00000359842.5	-	8	1388	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	362	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	ACTTGTCCATCTGCATGTCTT	0.483																																																	0													165	146	152					1																	165377516		2203	4300	6503	SO:0001819	synonymous_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"Nuclear hormone receptors"	10479	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 3"	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1086G>A	1.37:g.165377516C>T			A6NIP1|Q6IBU7	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.Q362	ENST00000359842.5	37	c.1086	CCDS1248.1	1																																																																																			RXRG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt	ENSG00000143171		0.483	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	-	0	61	0	C	NM_006917		165377516	-1	tier1	-	no_errors	ENST00000359842	ensembl	human	known	74_37	silent	25.66	84	29	SNP	1.000	T	T	165377516	C	T	165377516	2	4	26	1	0	0	0	0	0	0	0	1	13810	912	32	3		3	RXRG	1	165377516	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	6375172	165377516	83873105	23	6575											
TMCO1	54499	genome.wustl.edu	37	chr1	165737460	165737460	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttttccacttctgccttCagtctcttgtacttgtctgt	3	21	6	11	0	4	0	1	0	3	0	6	0	5	0	2	0	2	2	2	0	1	7			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:165737460C>T	ENST00000392129.6	-	2	267	c.117G>A	c.(115-117)ctG>ctA	p.L39L	TMCO1_ENST00000367881.5_Silent_p.L90L|RP11-466F5.8_ENST00000423121.1_RNA|TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000580248.1_5'UTR	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	39						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTCTGCCTTCAGTCTCTTGT	0.358																																																	0													182	162	168					1																	165737460		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"transmembrane and coiled-coil domains 4"	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.117G>A	1.37:g.165737460C>T			B2REA0|O75545|Q9BZS3|Q9BZU8	Silent	SNP	pfam_DUF106_TM	p.L90	ENST00000392129.6	37	c.270		1																																																																																			TMCO1	-	pfam_DUF106_TM	ENSG00000143183		0.358	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	-	0	81	0	C	NM_019026		165737460	-1	tier1	-	no_errors	ENST00000367881	ensembl	human	known	74_37	silent	21.55	91	25	SNP	1.000	T	T	165737460	C	T	165737460	2	4	26	1	0	0	0	0	0	0	0	1	16042	813	29	3		3	TMCO1	1	165737460	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	359944	165737460	83513161	24	6576											
FMO2	2327	genome.wustl.edu	37	chr1	171165874	171165874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagcaacggcaaggagcaGagtgctgtctttgacgcagt	11	7	14	9	2	1	3	0	1	1	2	1	4	1	4	0	2	4	5	0	2	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:171165874G>A	ENST00000209929.7	+	4	566	c.408G>A	c.(406-408)caG>caA	p.Q136Q	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Silent_p.Q136Q|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	136					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGAGCAGAGTGCTGTCT	0.493																																																	0													162	136	145					1																	171165874		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"flavin containing monooxygenase 2"			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.408G>A	1.37:g.171165874G>A			Q53XR0	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.Q136	ENST00000209929.7	37	c.408	CCDS1293.1	1																																																																																			FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase	ENSG00000094963		0.493	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	-	0	75	0	G	NM_001460		171165874	1	tier1	-	no_errors	ENST00000209929	ensembl	human	known	74_37	silent	11.40	101	13	SNP	0.000	A	A	171165874	G	A	171165874	2	1	26	1	0	0	0	0	0	0	0	1	5977	933	33	3		3	FMO2	1	171165874	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5428414	171165874	78084747	25	6577											
C1orf105	92346	genome.wustl.edu	37	chr1	172437700	172437700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaacgttcttccttgcccaGaaaggaaccaataggcaaga	15	7	8	11	1	1	2	0	0	1	2	2	3	2	3	3	2	3	2	3	2	6	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:172437700G>C	ENST00000367727.4	+	7	716	c.518G>C	c.(517-519)aGa>aCa	p.R173T	C1orf105_ENST00000367725.4_Missense_Mutation_p.R163T|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	173										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TCCTTGCCCAGAAAGGAACCA	0.512																																																	0													148	155	153					1																	172437700		2203	4300	6503	SO:0001583	missense	0			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.518G>C	1.37:g.172437700G>C	ENSP00000356700:p.Arg173Thr		Q8IY02	Missense_Mutation	SNP	NULL	p.R173T	ENST00000367727.4	37	c.518	CCDS1301.1	1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388546	0.42308	.	.	ENSG00000180999	ENST00000367727;ENST00000367725	T;T	0.36878	1.23;1.23	4.0	1.96	0.26148	.	0.441905	0.19314	N	0.117310	T	0.09247	0.0228	N	0.19112	0.55	0.09310	N	1	B	0.32829	0.386	B	0.36766	0.232	T	0.17379	-1.0371	10	0.38643	T	0.18	-1.8776	6.2302	0.20730	0.2517:0.0:0.7483:0.0	.	173	O95561	CA105_HUMAN	T	173;163	ENSP00000356700:R173T;ENSP00000356698:R163T	ENSP00000356698:R163T	R	+	2	0	C1orf105	170704323	0.005000	0.15991	0.015000	0.15790	0.019000	0.09904	0.907000	0.28531	0.546000	0.28920	-0.466000	0.05196	AGA	C1orf105	-	NULL	ENSG00000180999		0.512	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	HGNC	protein_coding	OTTHUMT00000084062.2	-	0	21	0	G	NM_139240		172437700	1	tier1	-	no_errors	ENST00000367727	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.023	C	C	172437700	G	C	172437700	3	2	26	1	0	0	0	0	1	0	0	0	1986	942	33	5	544	5	C1orf105	1	172437700	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1271826	172437700	76812921	26	6578											
CACNA1E	777	genome.wustl.edu	37	chr1	181752870	181752870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgacggtccacttcacctCcacacttatggctctgatcc	8	11	6	16	1	2	2	1	2	1	0	5	2	5	2	4	2	0	1	4	2	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:181752870C>G	ENST00000367573.2	+	40	5420	c.5420C>G	c.(5419-5421)tCc>tGc	p.S1807C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.S1788C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1414C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1758C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1807C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S1788C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1739C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1807					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACTTCACCTCCACACTTATG	0.448																																																	0													99	96	97					1																	181752870		1995	4163	6158	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5420C>G	1.37:g.181752870C>G	ENSP00000356545:p.Ser1807Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.S1807C	ENST00000367573.2	37	c.5420	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114799	0.77210	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.87456	2.885	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.71414	0.973;0.855	D	0.86350	0.1710	10	0.87932	D	0	.	14.3581	0.66752	0.0:0.928:0.0:0.072	.	1788;1807	Q15878-2;Q15878-3	.;.	C	1807;1788;1758;1739;1414;1788;1807	ENSP00000356542:S1807C;ENSP00000434814:S1788C;ENSP00000350183:S1758C;ENSP00000351101:S1739C;ENSP00000356539:S1414C;ENSP00000353222:S1788C;ENSP00000356545:S1807C	ENSP00000350183:S1758C	S	+	2	0	CACNA1E	180019493	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.711000	0.84669	1.372000	0.46190	0.555000	0.69702	TCC	CACNA1E	-	NULL	ENSG00000198216		0.448	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	83	0	C	NM_000721		181752870	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	32.29	65	31	SNP	1.000	G	G	181752870	C	G	181752870	3	3	26	1	0	0	0	0	1	0	0	0	2549	855	30	5	5578	5	CACNA1E	1	181752870	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	9315170	181752870	67497751	27	6579											
HMCN1	83872	genome.wustl.edu	37	chr1	186050412	186050412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgaacaagagtgcactGatagagtgtttatccagtgg	11	11	13	6	0	0	4	0	2	0	2	1	4	1	4	1	2	2	2	1	2	4	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:186050412G>A	ENST00000271588.4	+	56	8902	c.8673G>A	c.(8671-8673)ctG>ctA	p.L2891L	HMCN1_ENST00000367492.2_Silent_p.L2891L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2891	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGTGCACTGATAGAGTGTT	0.463																																																	0													161	154	157					1																	186050412		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8673G>A	1.37:g.186050412G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L2891	ENST00000271588.4	37	c.8673	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.463	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	44	0	G	NM_031935		186050412	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.352	A	A	186050412	G	A	186050412	2	1	26	1	0	0	0	0	0	0	0	1	7247	1277	45	3		3	HMCN1	1	186050412	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4297542	186050412	63200209	28	6580											
ASPM	259266	genome.wustl.edu	37	chr1	197059154	197059154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatcaaaacaaatattttaGaaattgctccactctgggcc	14	11	7	9	0	2	1	1	0	1	1	3	2	3	2	2	2	2	1	2	2	6	4	rs201033114		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:197059154G>A	ENST00000367409.4	-	25	10146	c.9890C>T	c.(9889-9891)tCt>tTt	p.S3297F	ASPM_ENST00000294732.7_Missense_Mutation_p.S1712F|ASPM_ENST00000367408.1_Missense_Mutation_p.S962F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3297					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAATATTTTAGAAATTGCTCC	0.363																																																	0													60	63	62					1																	197059154		2203	4300	6503	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9890C>T	1.37:g.197059154G>A	ENSP00000356379:p.Ser3297Phe		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.S3297F	ENST00000367409.4	37	c.9890	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626252	0.46840	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.51817	0.69;0.69;0.69	5.75	3.87	0.44632	.	0.767331	0.12622	N	0.452896	T	0.36991	0.0987	L	0.47716	1.5	0.09310	N	1	B;B;B	0.21381	0.055;0.007;0.046	B;B;B	0.16722	0.012;0.007;0.016	T	0.33523	-0.9865	10	0.45353	T	0.12	.	3.534	0.07788	0.1523:0.1346:0.5742:0.1389	.	1283;1712;3297	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	F	3297;1712;962;1283	ENSP00000356379:S3297F;ENSP00000294732:S1712F;ENSP00000356378:S962F	ENSP00000294732:S1712F	S	-	2	0	ASPM	195325777	0.982000	0.34865	0.582000	0.28627	0.993000	0.82548	1.838000	0.39211	0.762000	0.33152	0.655000	0.94253	TCT	ASPM	-	superfamily_ARM-type_fold	ENSG00000066279		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0	13	0	G	NM_018136		197059154	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.010	A	A	197059154	G	A	197059154	3	1	26	1	0	0	0	0	1	0	0	0	1057	942	33	3	559	3	ASPM	1	197059154	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	11008742	197059154	52191467	29	6581											
LAX1	54900	genome.wustl.edu	37	chr1	203743776	203743776	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagggactctgagcaGgggcctggcactcagctcct	7	6	16	12	0	2	1	1	1	1	0	3	3	3	3	2	6	2	4	2	6	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:203743776G>A	ENST00000442561.2	+	5	1554	c.1164G>A	c.(1162-1164)caG>caA	p.Q388Q	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.Q372Q	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	388					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTCTGAGCAGGGGCCTGGCA	0.483																																																	0													55	56	56					1																	203743776		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.1164G>A	1.37:g.203743776G>A			B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Silent	SNP	NULL	p.Q388	ENST00000442561.2	37	c.1164	CCDS1441.2	1																																																																																			LAX1	-	NULL	ENSG00000122188		0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAX1	HGNC	protein_coding	OTTHUMT00000087468.3	-	0	36	0	G	NM_017773		203743776	1	tier1	-	no_errors	ENST00000442561	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.046	A	A	203743776	G	A	203743776	2	1	26	1	0	0	0	0	0	0	0	1	8676	991	35	3		3	LAX1	1	203743776	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	6684622	203743776	45506845	30	6582											
SOX13	9580	genome.wustl.edu	37	chr1	204086794	204086794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgcctgtcacccctgactCccagctggccttacccattc	5	11	6	19	0	2	1	1	1	1	0	4	1	3	1	6	1	3	1	6	1	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:204086794C>T	ENST00000367204.1	+	7	843	c.734C>T	c.(733-735)tCc>tTc	p.S245F	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	245	Pro-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCCTGACTCCCAGCTGGCC	0.572																																																	0													49	57	54					1																	204086794		2081	4218	6299	SO:0001583	missense	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.734C>T	1.37:g.204086794C>T	ENSP00000356172:p.Ser245Phe		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S245F	ENST00000367204.1	37	c.734	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231317	0.79688	.	.	ENSG00000143842	ENST00000367204	D	0.97850	-4.57	5.05	5.05	0.67936	.	0.167961	0.52532	D	0.000073	D	0.97420	0.9156	L	0.54323	1.7	0.34572	D	0.713564	P;P;P;D	0.59767	0.761;0.877;0.93;0.986	B;B;P;P	0.54100	0.293;0.216;0.483;0.742	D	0.99969	1.1941	10	0.72032	D	0.01	.	15.3165	0.74085	0.0:1.0:0.0:0.0	.	112;112;245;227	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	F	245	ENSP00000356172:S245F	ENSP00000356172:S245F	S	+	2	0	SOX13	202353417	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.144000	0.64832	2.324000	0.78689	0.460000	0.39030	TCC	SOX13	-	NULL	ENSG00000143842		0.572	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2	-	0	33	0	C	NM_005686		204086794	1	tier1	-	no_errors	ENST00000367204	ensembl	human	known	74_37	missense	22.03	46	13	SNP	1.000	T	T	204086794	C	T	204086794	3	4	26	1	0	0	0	0	1	0	0	0	14989	855	30	3	756	3	SOX13	1	204086794	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	343018	204086794	45163827	31	6583											
LAMB3	3914	genome.wustl.edu	37	chr1	209800282	209800282	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggctgcagcgctgcacatCaggccaccaaagccttcccg	9	6	10	16	2	1	0	1	0	0	0	2	0	2	0	4	2	4	4	4	2	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:209800282C>T	ENST00000356082.4	-	13	1661	c.1527G>A	c.(1525-1527)ctG>ctA	p.L509L	LAMB3_ENST00000391911.1_Silent_p.L509L|LAMB3_ENST00000367030.3_Silent_p.L509L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	509	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGCTGCACATCAGGCCACCAA	0.647																																																	0													64	51	56					1																	209800282		2203	4300	6503	SO:0001819	synonymous_variant	0			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"Laminins"	6490	protein-coding gene	gene with protein product		150310	"laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1527G>A	1.37:g.209800282C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.L509	ENST00000356082.4	37	c.1527	CCDS1487.1	1																																																																																			LAMB3	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000196878		0.647	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	-	0	63	0	C	NM_000228		209800282	-1	tier1	-	no_errors	ENST00000356082	ensembl	human	known	74_37	silent	39.02	50	32	SNP	0.867	T	T	209800282	C	T	209800282	2	4	26	1	0	0	0	0	0	0	0	1	8640	813	29	3		3	LAMB3	1	209800282	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5713488	209800282	39450339	32	6584											
USH2A	7399	genome.wustl.edu	37	chr1	215848443	215848443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatagaaacataggatatCacaggtggagagagaccttc	15	9	10	7	0	2	3	2	0	0	3	3	6	2	4	1	3	1	0	1	3	4	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:215848443C>T	ENST00000307340.3	-	63	13196	c.12810G>A	c.(12808-12810)gtG>gtA	p.V4270V	USH2A_ENST00000366943.2_Silent_p.V4270V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4270	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		cataggatatcacaggtggag	0.433										HNSCC(13;0.011)																																							0													84	80	81					1																	215848443		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12810G>A	1.37:g.215848443C>T			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V4270	ENST00000307340.3	37	c.12810	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	37	0	C	NM_007123		215848443	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.000	T	T	215848443	C	T	215848443	2	4	26	1	0	0	0	0	0	0	0	1	17085	813	29	3		3	USH2A	1	215848443	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	6048161	215848443	33402178	33	6585											
USH2A	7399	genome.wustl.edu	37	chr1	216420404	216420404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagttttctctgcaggtgtCacactgaagtcctttggctt	8	15	9	9	0	2	1	1	1	1	0	4	1	3	1	1	2	1	3	1	2	2	4	rs142898216		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:216420404C>T	ENST00000307340.3	-	13	2718	c.2332G>A	c.(2332-2334)Gac>Aac	p.D778N	USH2A_ENST00000366942.3_Missense_Mutation_p.D778N|USH2A_ENST00000366943.2_Missense_Mutation_p.D778N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	778	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCAGGTGTCACACTGAAGT	0.483										HNSCC(13;0.011)																																							0													143	137	139					1																	216420404		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2332G>A	1.37:g.216420404C>T	ENSP00000305941:p.Asp778Asn		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D778N	ENST00000307340.3	37	c.2332	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893126	0.91889	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.64991	-0.13;-0.13;-0.13	6.06	6.06	0.98353	EGF-like, laminin (4);	0.000000	0.47093	D	0.000241	T	0.65606	0.2707	L	0.53780	1.695	0.54753	D	0.999989	P;P	0.48089	0.905;0.884	P;P	0.49853	0.624;0.571	T	0.63143	-0.6703	10	0.37606	T	0.19	.	13.778	0.63066	0.0:0.9304:0.0:0.0696	.	778;778	O75445-2;O75445	.;USH2A_HUMAN	N	778	ENSP00000305941:D778N;ENSP00000355910:D778N;ENSP00000355909:D778N	ENSP00000305941:D778N	D	-	1	0	USH2A	214487027	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	4.524000	0.60552	2.871000	0.98454	0.655000	0.94253	GAC	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000042781		0.483	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	17	0	C	NM_007123		216420404	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	T	T	216420404	C	T	216420404	3	4	26	1	0	0	0	0	1	0	0	0	17085	826	29	3	13530	3	USH2A	1	216420404	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	571961	216420404	32830217	34	6586											
SLC30A10	55532	genome.wustl.edu	37	chr1	220088979	220088979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcacagccattgacgtGagccagaggcagtgccccgg	9	5	13	14	2	1	3	1	2	0	1	1	3	1	3	4	2	4	2	4	2	0	1	rs375331656		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:220088979G>A	ENST00000366926.3	-	4	1431	c.1270C>T	c.(1270-1272)Cac>Tac	p.H424Y	SLC30A10_ENST00000536446.1_Missense_Mutation_p.H179Y|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	424					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CCATTGACGTGAGCCAGAGGC	0.557																																					Colon(76;360 1614 43677 51136)												0								G	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	96	93	94		1270	6	0.8	1		94	0,8600		0,0,4300	no	missense	SLC30A10	NM_018713.2	83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	424/486	220088979	1,13005	2203	4300	6503	SO:0001583	missense	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1270C>T	1.37:g.220088979G>A	ENSP00000355893:p.His424Tyr		Q49AL9|Q9NPW0	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.H424Y	ENST00000366926.3	37	c.1270	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	G	8.378	0.836933	0.16891	2.27E-4	0.0	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.64085	-0.08;0.5	6.02	6.02	0.97574	.	0.200424	0.35466	N	0.003192	T	0.46092	0.1375	L	0.27053	0.805	0.24168	N	0.995635	P	0.38335	0.627	B	0.34489	0.184	T	0.45145	-0.9281	9	.	.	.	-24.2878	11.7403	0.51788	0.0:0.2332:0.6423:0.1245	.	424	Q6XR72	ZNT10_HUMAN	Y	424;179	ENSP00000355893:H424Y;ENSP00000439489:H179Y	.	H	-	1	0	SLC30A10	218155602	0.976000	0.34144	0.835000	0.33067	0.176000	0.22953	1.465000	0.35299	2.857000	0.98124	0.650000	0.86243	CAC	SLC30A10	-	NULL	ENSG00000196660		0.557	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	-	0	31	0	G	NM_018713		220088979	-1	tier1	-	no_errors	ENST00000366926	ensembl	human	known	74_37	missense	25.71	52	18	SNP	0.217	A	A	220088979	G	A	220088979	3	1	26	1	0	0	0	0	1	0	0	0	14599	1290	45	3	191	3	SLC30A10	1	220088979	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3668575	220088979	29161642	35	6587											
EPHX1	2052	genome.wustl.edu	37	chr1	226026976	226026976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgatgctgcggctgggcttCcaggaattctacattcaagg	8	11	12	10	1	2	1	1	1	1	0	3	2	3	2	1	4	3	3	1	4	3	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:226026976C>A	ENST00000366837.4	+	5	847	c.651C>A	c.(649-651)ttC>ttA	p.F217L	EPHX1_ENST00000272167.5_Missense_Mutation_p.F217L|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	217					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGCTGGGCTTCCAGGAATTCT	0.582																																																	0													70	77	75					1																	226026976		2203	4300	6503	SO:0001583	missense	0			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.651C>A	1.37:g.226026976C>A	ENSP00000355802:p.Phe217Leu		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.F217L	ENST00000366837.4	37	c.651	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706053	0.89018	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.03301	3.98;3.98	4.87	3.94	0.45596	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.14270	0.0345	M	0.67517	2.055	0.80722	D	1	D	0.60160	0.987	D	0.69307	0.963	T	0.00175	-1.1955	10	0.72032	D	0.01	-10.9668	12.8679	0.57949	0.0:0.9206:0.0:0.0793	.	217	P07099	HYEP_HUMAN	L	217	ENSP00000272167:F217L;ENSP00000355802:F217L	ENSP00000272167:F217L	F	+	3	2	EPHX1	224093599	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.471000	0.45127	2.414000	0.81942	0.591000	0.81541	TTC	EPHX1	-	pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase	ENSG00000143819		0.582	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1	-	0	66	0	C	NM_000120		226026976	1	tier1	-	no_errors	ENST00000272167	ensembl	human	known	74_37	missense	32.84	45	22	SNP	1.000	A	A	226026976	C	A	226026976	3	1	26	1	0	0	0	0	1	0	0	0	5195	854	30	3	665	3	EPHX1	1	226026976	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5937997	226026976	23223645	36	6588											
EPHX1	2052	genome.wustl.edu	37	chr1	226032974	226032974	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatggttcgtgggggccacTttgcggcctttgaggagccg	5	10	16	10	3	0	1	0	1	0	0	1	2	0	2	3	5	2	1	3	5	0	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:226032974T>A	ENST00000366837.4	+	9	1490	c.1294T>A	c.(1294-1296)Ttt>Att	p.F432I	EPHX1_ENST00000272167.5_Missense_Mutation_p.F432I|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	432					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TGGGGGCCACTTTGCGGCCTT	0.597																																																	0													57	56	56					1																	226032974		2203	4300	6503	SO:0001583	missense	0			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1294T>A	1.37:g.226032974T>A	ENSP00000355802:p.Phe432Ile		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.F432I	ENST00000366837.4	37	c.1294	CCDS1547.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.405935	0.83230	.	.	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.36157	1.27;1.27	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85776	0.1358	10	0.87932	D	0	-13.3	14.3723	0.66849	0.0:0.0:0.0:1.0	.	432	P07099	HYEP_HUMAN	I	432	ENSP00000272167:F432I;ENSP00000355802:F432I	ENSP00000272167:F432I	F	+	1	0	EPHX1	224099597	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	7.852000	0.86927	2.052000	0.61016	0.379000	0.24179	TTT	EPHX1	-	pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	ENSG00000143819		0.597	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1	-	0	49	0	T	NM_000120		226032974	1	tier1	-	no_errors	ENST00000272167	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	A	A	226032974	T	A	226032974	3	1	26	1	0	0	0	0	1	0	0	0	5195	1609	56	5	1324	5	EPHX1	1	226032974	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	5998	226032974	23217647	37	6589											
RYR2	6262	genome.wustl.edu	37	chr1	237954760	237954760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgcaacttttacaacatgaGaatgttagccttatttgtcg	11	15	7	8	2	0	1	0	1	0	1	2	2	0	1	1	0	4	2	1	0	6	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:237954760G>A	ENST00000366574.2	+	93	13825	c.13508G>A	c.(13507-13509)aGa>aAa	p.R4503K	RYR2_ENST00000542537.1_Missense_Mutation_p.R4487K|RYR2_ENST00000360064.6_Missense_Mutation_p.R4509K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4503					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACAACATGAGAATGTTAGCC	0.333																																																	0													204	178	186					1																	237954760		1850	4093	5943	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13508G>A	1.37:g.237954760G>A	ENSP00000355533:p.Arg4503Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R4509K	ENST00000366574.2	37	c.13526	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719392	0.68844	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94457	-3.43;-3.43;-3.43	4.66	3.74	0.42951	Ryanodine Receptor TM 4-6 (1);	0.000000	0.64402	U	0.000014	D	0.92974	0.7764	N	0.21508	0.67	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	D	0.88966	0.3397	10	0.06099	T	0.92	.	13.2861	0.60243	0.0777:0.0:0.9223:0.0	.	4503	Q92736	RYR2_HUMAN	K	4503;4509;4487	ENSP00000355533:R4503K;ENSP00000353174:R4509K;ENSP00000443798:R4487K	ENSP00000353174:R4509K	R	+	2	0	RYR2	236021383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	1.097000	0.41459	0.555000	0.69702	AGA	RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	82	0	G	NM_001035		237954760	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	20.00	72	18	SNP	1.000	A	A	237954760	G	A	237954760	3	1	26	1	0	0	0	0	1	0	0	0	13814	942	33	3	13878	3	RYR2	1	237954760	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	11921786	237954760	11295861	38	6590											
RYR2	6262	genome.wustl.edu	37	chr1	237955559	237955559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatggagcccacgttgcGtatcttagctattctgcaca	9	12	8	12	2	2	0	0	0	2	0	2	1	2	1	1	1	5	4	1	1	4	6	rs371157286		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:237955559G>A	ENST00000366574.2	+	94	14035	c.13718G>A	c.(13717-13719)cGt>cAt	p.R4573H	RYR2_ENST00000542537.1_Missense_Mutation_p.R4557H|RYR2_ENST00000360064.6_Missense_Mutation_p.R4579H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4573					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCCACGTTGCGTATCTTAGCT	0.468																																																	0								G	HIS/ARG	0,4168		0,0,2084	71	77	75		13718	5.5	0.9	1		75	1,8419		0,1,4209	no	missense	RYR2	NM_001035.2	29	0,1,6293	AA,AG,GG		0.0119,0.0,0.0079	benign	4573/4968	237955559	1,12587	2084	4210	6294	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13718G>A	1.37:g.237955559G>A	ENSP00000355533:p.Arg4573His		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R4579H	ENST00000366574.2	37	c.13736	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487955	0.84854	0.0	1.19E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.94497	-3.44;-3.44;-3.44	5.49	5.49	0.81192	Ryanodine Receptor TM 4-6 (1);	0.000000	0.53938	U	0.000049	D	0.90926	0.7148	L	0.41236	1.265	0.43279	D	0.995249	B;B	0.18310	0.001;0.027	B;B	0.15484	0.003;0.013	D	0.86913	0.2062	10	0.46703	T	0.11	-13.5457	13.0177	0.58768	0.0738:0.0:0.9262:0.0	.	6;4573	F5H3C7;Q92736	.;RYR2_HUMAN	H	4573;4579;4557;6	ENSP00000355533:R4573H;ENSP00000353174:R4579H;ENSP00000443798:R4557H	ENSP00000353174:R4579H	R	+	2	0	RYR2	236022182	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	4.812000	0.62613	2.731000	0.93534	0.650000	0.86243	CGT	RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	35	0	G	NM_001035		237955559	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	14.29	29	5	SNP	0.987	A	A	237955559	G	A	237955559	3	1	26	1	0	0	0	0	1	0	0	0	13814	1145	40	1	14092	1	RYR2	1	237955559	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	799	237955559	11295062	39	6591											
OR2T11	127077	genome.wustl.edu	37	chr1	248790179	248790179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaaatgatcttctctttaGaaaccatgtctgccaggagt	12	12	9	8	0	3	2	0	1	3	1	4	4	3	4	2	2	2	0	2	2	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:248790179G>C	ENST00000330803.2	-	1	312	c.251C>G	c.(250-252)tCt>tGt	p.S84C		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTTCTCTTTAGAAACCATGTC	0.502																																																	0													67	65	66					1																	248790179		2052	4233	6285	SO:0001583	missense	0			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.251C>G	1.37:g.248790179G>C	ENSP00000328934:p.Ser84Cys		Q6IEY6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S84C	ENST00000330803.2	37	c.251	CCDS31122.1	1	.	.	.	.	.	.	.	.	.	.	.	6.644	0.487248	0.12641	.	.	ENSG00000183130	ENST00000330803	T	0.03035	4.07	4.62	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.165435	0.28977	N	0.013536	T	0.08088	0.0202	M	0.83223	2.63	0.09310	N	1	P	0.49783	0.928	P	0.48089	0.566	T	0.15122	-1.0448	10	0.39692	T	0.17	.	4.091	0.09970	0.1793:0.0:0.5106:0.3101	.	84	Q8NH01	O2T11_HUMAN	C	84	ENSP00000328934:S84C	ENSP00000328934:S84C	S	-	2	0	OR2T11	246856802	0.000000	0.05858	0.024000	0.17045	0.062000	0.15995	-0.662000	0.05305	1.134000	0.42165	0.655000	0.94253	TCT	OR2T11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183130		0.502	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T11	HGNC	protein_coding	OTTHUMT00000097134.1	-	0	58	0	G	NM_001001964		248790179	-1	tier1	-	no_errors	ENST00000330803	ensembl	human	known	74_37	missense	22.58	70	21	SNP	0.088	C	C	248790179	G	C	248790179	3	2	26	1	0	0	0	0	1	0	0	0	11057	942	33	5	703	5	OR2T11	1	248790179	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	10834620	248790179	460442	40	6592											
ZNF672	79894	genome.wustl.edu	37	chr1	249141564	249141564	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacagctcagtgctgctgCgacatgaacgagctcacggc	9	7	12	13	3	2	1	2	1	0	0	2	3	2	1	0	1	7	5	0	1	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:249141564C>T	ENST00000306562.3	+	4	837	c.91C>T	c.(91-93)Cga>Tga	p.R31*		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AGTGCTGCTGCGACATGAACG	0.632																																																	0													49	41	44					1																	249141564		2203	4300	6503	SO:0001587	stop_gained	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.91C>T	1.37:g.249141564C>T	ENSP00000421915:p.Arg31*		Q96H65|Q96IM3|Q9H6G5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R31*	ENST00000306562.3	37	c.91	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.261464	0.95368	.	.	ENSG00000171161	ENST00000306562;ENST00000428515;ENST00000423362;ENST00000306576	.	.	.	3.43	-1.31	0.09230	.	0.342605	0.16199	U	0.225007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.3214	0.21219	0.4785:0.4259:0.0:0.0956	.	.	.	.	X	31	.	ENSP00000421915:R31X	R	+	1	2	ZNF672	247108187	0.000000	0.05858	0.024000	0.17045	0.186000	0.23388	-2.305000	0.01133	-0.227000	0.09884	0.655000	0.94253	CGA	ZNF672	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.632	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	-	0	50	0	C	NM_024836		249141564	1	tier1	-	no_errors	ENST00000306562	ensembl	human	known	74_37	nonsense	11.43	62	8	SNP	0.001	T	T	249141564	C	T	249141564	4	4	26	1	0	0	0	0	0	1	0	0	18127	760	27	1	93	1	ZNF672	1	249141564	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	351385	249141564	109057	41	6593											
PGBD2	267002	genome.wustl.edu	37	chr1	249211564	249211564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaatttccagaagcatgcaCccttggaagagttctacagc	12	9	9	11	0	1	2	0	0	1	2	2	3	2	3	2	1	4	4	2	1	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr1:249211564C>T	ENST00000329291.5	+	3	928	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	PGBD2_ENST00000462488.1_3'UTR|PGBD2_ENST00000539153.1_Missense_Mutation_p.P258S|PGBD2_ENST00000355360.4_Missense_Mutation_p.P10S	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	261										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAAGCATGCACCCTTGGAAGA	0.502																																																	0													102	106	105					1																	249211564		2203	4300	6503	SO:0001583	missense	0			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.781C>T	1.37:g.249211564C>T	ENSP00000331643:p.Pro261Ser		B3KVR8|Q6MZF8	Missense_Mutation	SNP	NULL	p.P261S	ENST00000329291.5	37	c.781	CCDS31128.1	1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227634	0.58668	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.15487	2.42;2.42;2.42	3.76	2.84	0.33178	.	0.000000	0.36444	N	0.002594	T	0.27697	0.0681	L	0.60455	1.87	0.29330	N	0.866774	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.10428	-1.0630	10	0.07482	T	0.82	-31.2522	6.9707	0.24646	0.0:0.8729:0.0:0.1271	.	258;261	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	S	10;261;258	ENSP00000355424:P10S;ENSP00000331643:P261S;ENSP00000439950:P258S	ENSP00000331643:P261S	P	+	1	0	PGBD2	247178187	0.020000	0.18652	0.990000	0.47175	0.986000	0.74619	1.479000	0.35453	0.920000	0.36970	0.563000	0.77884	CCC	PGBD2	-	NULL	ENSG00000185220		0.502	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGBD2	HGNC	protein_coding	OTTHUMT00000097318.1	-	0	28	0	C			249211564	1	tier1	-	no_errors	ENST00000329291	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.994	T	T	249211564	C	T	249211564	3	4	26	1	0	0	0	0	1	0	0	0	11820	507	18	3	787	3	PGBD2	1	249211564	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	70000	249211564	39057	42	6594											
TAF1B	9014	genome.wustl.edu	37	chr2	10008430	10008430	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagataatctaagtcattCagactgggctagtgagcctg	13	10	11	7	0	3	4	2	1	1	3	3	4	3	4	1	1	1	1	1	1	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:10008430C>G	ENST00000263663.5	+	6	613	c.425C>G	c.(424-426)tCa>tGa	p.S142*	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	142	N-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTAAGTCATTCAGACTGGGCT	0.373																																																	0													93	81	85					2																	10008430		2203	4300	6503	SO:0001587	stop_gained	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.425C>G	2.37:g.10008430C>G	ENSP00000263663:p.Ser142*		B4DI42|F8WD72|Q15574|Q8WVC3	Nonsense_Mutation	SNP	pfam_TF_Rrn7	p.S142*	ENST00000263663.5	37	c.425	CCDS33143.1	2	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278773	0.40294	.	.	ENSG00000115750	ENST00000263663;ENST00000402170	.	.	.	5.55	4.67	0.58626	.	0.411149	0.26654	N	0.023193	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.5191	10.3648	0.44017	0.0:0.9121:0.0:0.0879	.	.	.	.	X	142	.	.	S	+	2	0	TAF1B	9925881	0.790000	0.28787	0.180000	0.23079	0.446000	0.32137	3.549000	0.53681	1.580000	0.49851	-0.150000	0.13652	TCA	TAF1B	-	NULL	ENSG00000115750		0.373	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2	-	0	27	0	C	NM_005680		10008430	1	tier1	-	no_errors	ENST00000263663	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	0.457	G	G	10008430	C	G	10008430	4	3	26	1	0	0	0	0	0	1	0	0	15567	838	29	5	447	5	TAF1B	2	10008430	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09		10008430	233190943	43	6595											
GREB1	9687	genome.wustl.edu	37	chr2	11765302	11765302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcagagaagaatctgactgGcattatctccagcttagcga	12	10	9	10	1	3	3	1	1	2	2	4	5	3	3	1	1	2	2	1	1	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:11765302G>C	ENST00000381486.2	+	24	4470	c.4170G>C	c.(4168-4170)tgG>tgC	p.W1390C	GREB1_ENST00000234142.5_Missense_Mutation_p.W1390C|GREB1_ENST00000396123.1_Missense_Mutation_p.W388C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1390						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AATCTGACTGGCATTATCTCC	0.448																																					Ovarian(39;850 945 2785 23371 33093)												0													179	171	173					2																	11765302		1899	4121	6020	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4170G>C	2.37:g.11765302G>C	ENSP00000370896:p.Trp1390Cys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.W1390C	ENST00000381486.2	37	c.4170	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615307	0.28801	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.21734	3.31;3.31;1.99	5.0	3.99	0.46301	.	0.545137	0.20512	N	0.090866	T	0.21801	0.0525	N	0.22421	0.69	0.50467	D	0.999878	P	0.43352	0.804	P	0.52267	0.694	T	0.01114	-1.1447	10	0.38643	T	0.18	-19.314	9.1709	0.37081	0.174:0.0:0.826:0.0	.	1390	Q4ZG55	GREB1_HUMAN	C	1390;1390;388	ENSP00000370896:W1390C;ENSP00000234142:W1390C;ENSP00000379429:W388C	ENSP00000234142:W1390C	W	+	3	0	GREB1	11682753	1.000000	0.71417	0.908000	0.35775	0.369000	0.29798	2.558000	0.45879	2.315000	0.78130	0.655000	0.94253	TGG	GREB1	-	superfamily_P-loop_NTPase	ENSG00000196208		0.448	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	60	0	G	NM_014668		11765302	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.943	C	C	11765302	G	C	11765302	3	2	26	1	0	0	0	0	1	0	0	0	6787	1212	42	5	4368	5	GREB1	2	11765302	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1756872	11765302	231434071	44	6596											
APOB	338	genome.wustl.edu	37	chr2	21229677	21229677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgactggttaaaaagttCagcattggtattcagtgtga	12	14	10	5	0	3	2	2	2	1	0	3	2	3	2	0	2	1	4	0	2	4	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:21229677C>T	ENST00000233242.1	-	26	10190	c.10063G>A	c.(10063-10065)Gaa>Aaa	p.E3355K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3355					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAAAAAGTTCAGCATTGGTA	0.378																																																	0													107	104	105					2																	21229677		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10063G>A	2.37:g.21229677C>T	ENSP00000233242:p.Glu3355Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E3355K	ENST00000233242.1	37	c.10063	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	19.22	3.784769	0.70222	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.36340	1.26	5.63	5.63	0.86233	.	0.094831	0.46442	D	0.000284	T	0.30759	0.0775	N	0.19112	0.55	0.80722	D	1	B	0.29212	0.237	B	0.30716	0.119	T	0.13124	-1.0521	10	0.72032	D	0.01	.	19.6839	0.95973	0.0:1.0:0.0:0.0	.	3355	P04114	APOB_HUMAN	K	3355	ENSP00000233242:E3355K	ENSP00000233242:E3355K	E	-	1	0	APOB	21083182	0.998000	0.40836	1.000000	0.80357	0.859000	0.49053	3.237000	0.51344	2.632000	0.89209	0.655000	0.94253	GAA	APOB	-	NULL	ENSG00000084674		0.378	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	34	0	C			21229677	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	21229677	C	T	21229677	3	4	26	1	0	0	0	0	1	0	0	0	785	835	29	3	3644	3	APOB	2	21229677	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	9464375	21229677	221969696	45	6597											
GPR75	10936	genome.wustl.edu	37	chr2	54081859	54081859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacatggagcgaggtggcaTtgggggcatcctgaaggtgg	8	7	19	7	1	0	1	0	1	0	0	1	3	1	2	1	7	1	3	1	7	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:54081859T>C	ENST00000394705.2	-	2	305	c.35A>G	c.(34-36)aAt>aGt	p.N12S	ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	12					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CGAGGTGGCATTGGGGGCATC	0.537																																																	0													124	119	121					2																	54081859		2203	4300	6503	SO:0001583	missense	0			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"GPCR / Class A : Orphans"	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.35A>G	2.37:g.54081859T>C	ENSP00000378195:p.Asn12Ser		B2RC02|Q6NWR2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.N12S	ENST00000394705.2	37	c.35	CCDS1849.1	2	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113609	0.56398	.	.	ENSG00000119737	ENST00000394705	T	0.26957	1.7	5.54	5.54	0.83059	.	0.324362	0.29015	N	0.013417	T	0.22627	0.0546	.	.	.	0.31446	N	0.671322	B	0.24043	0.096	B	0.23150	0.044	T	0.16424	-1.0403	9	0.56958	D	0.05	-12.2179	13.1946	0.59730	0.0:0.0:0.0:1.0	.	12	O95800	GPR75_HUMAN	S	12	ENSP00000378195:N12S	ENSP00000378195:N12S	N	-	2	0	GPR75	53935363	1.000000	0.71417	0.957000	0.39632	0.977000	0.68977	3.221000	0.51215	2.107000	0.64212	0.459000	0.35465	AAT	GPR75	-	NULL	ENSG00000119737		0.537	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75	HGNC	protein_coding	OTTHUMT00000251403.2	-	0	40	0	T			54081859	-1	tier1	-	no_errors	ENST00000394705	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.991	C	C	54081859	T	C	54081859	3	2	26	1	0	0	0	0	1	0	0	0	6734	1493	52	4	1591	4	GPR75	2	54081859	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	32852182	54081859	189117514	46	6598											
GFPT1	2673	genome.wustl.edu	37	chr2	69575385	69575385	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagttcgtttaattcgatgGatagaaagacgtccatccac	12	11	9	9	3	0	2	0	0	0	2	4	4	2	3	2	1	0	3	2	1	3	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:69575385G>T	ENST00000357308.4	-	11	1105	c.927C>A	c.(925-927)atC>atA	p.I309I	GFPT1_ENST00000361060.5_Silent_p.I291I	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	309					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TAATTCGATGGATAGAAAGAC	0.453																																																	0													161	148	152					2																	69575385		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.927C>A	2.37:g.69575385G>T			Q53QE6|Q9BXF8	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.I309	ENST00000357308.4	37	c.927	CCDS58713.1	2																																																																																			GFPT1	-	tigrfam_GlmS_trans	ENSG00000198380		0.453	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		-	0	58	0	G			69575385	-1	tier1	-	no_errors	ENST00000357308	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	69575385	G	T	69575385	2	4	26	1	0	0	0	0	0	0	0	1	6371	1164	41	3		3	GFPT1	2	69575385	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	15493526	69575385	173623988	47	6599											
TACR1	6869	genome.wustl.edu	37	chr2	75425863	75425863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaccagaaaatagttcgtCactgtcctcattcttttgtg	9	16	6	10	1	4	1	3	0	1	1	6	1	5	1	2	0	0	1	2	0	3	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:75425863C>T	ENST00000305249.5	-	1	963	c.198G>A	c.(196-198)gtG>gtA	p.V66V	TACR1_ENST00000409848.3_Silent_p.V66V	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	66					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AATAGTTCGTCACTGTCCTCA	0.512																																					Pancreas(64;62 1268 3653 14826 43765)												0													170	142	151					2																	75425863		2203	4300	6503	SO:0001819	synonymous_variant	0			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"GPCR / Class A : Tachykinin receptors"	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.198G>A	2.37:g.75425863C>T			A8K150	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.V66	ENST00000305249.5	37	c.198	CCDS1958.1	2																																																																																			TACR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000115353		0.512	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	HGNC	protein_coding	OTTHUMT00000252239.3	-	0	50	0	C	NM_001058		75425863	-1	tier1	-	no_errors	ENST00000305249	ensembl	human	known	74_37	silent	30.00	56	24	SNP	0.994	T	T	75425863	C	T	75425863	2	4	26	1	0	0	0	0	0	0	0	1	15552	813	29	3		3	TACR1	2	75425863	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5850478	75425863	167773510	48	6600											
SEMA4C	54910	genome.wustl.edu	37	chr2	97530058	97530058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtactccttataggggccctCaaacacccgctggatctctt	8	11	8	14	1	2	0	1	0	1	0	4	1	3	1	3	3	2	2	3	3	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:97530058C>G	ENST00000305476.5	-	10	1156	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	342	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TAGGGGCCCTCAAACACCCGC	0.612																																																	0													105	106	106					2																	97530058		2203	4300	6503	SO:0001583	missense	0			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.1024G>C	2.37:g.97530058C>G	ENSP00000306844:p.Glu342Gln		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.E342Q	ENST00000305476.5	37	c.1024	CCDS2029.1	2	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512269	0.64522	.	.	ENSG00000168758	ENST00000305476	T	0.12039	2.72	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.051380	0.85682	D	0.000000	T	0.24005	0.0581	M	0.69185	2.1	0.49483	D	0.999797	P;P	0.38250	0.624;0.624	B;B	0.43445	0.42;0.42	T	0.01021	-1.1478	10	0.33141	T	0.24	.	17.8022	0.88591	0.0:1.0:0.0:0.0	.	342;52	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	Q	342	ENSP00000306844:E342Q	ENSP00000306844:E342Q	E	-	1	0	SEMA4C	96893785	0.998000	0.40836	0.994000	0.49952	0.949000	0.60115	4.059000	0.57470	2.501000	0.84356	0.561000	0.74099	GAG	SEMA4C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000168758		0.612	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4C	HGNC	protein_coding	OTTHUMT00000252957.1	-	0	58	0	C	NM_017789		97530058	-1	tier1	-	no_errors	ENST00000305476	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	G	G	97530058	C	G	97530058	3	3	26	1	0	0	0	0	1	0	0	0	14078	835	29	5	1501	5	SEMA4C	2	97530058	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	22104195	97530058	145669315	49	6601											
REV1	51455	genome.wustl.edu	37	chr2	100017707	100017707	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctctggtaatatttaTgtaacttttaatgtgcttcc	9	18	7	7	0	1	0	0	0	1	0	3	0	2	0	1	2	2	4	1	2	5	8			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:100017707T>C	ENST00000258428.3	-	23	3981	c.3753A>G	c.(3751-3753)acA>acG	p.T1251T	REV1_ENST00000465835.1_5'Flank|EIF5B_ENST00000289371.6_3'UTR|REV1_ENST00000393445.3_Silent_p.T1250T	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1251					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAATATTTATGTAACTTTTA	0.378								Direct reversal of damage																																									0													65	65	65					2																	100017707		2203	4300	6503	SO:0001819	synonymous_variant	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3753A>G	2.37:g.100017707T>C			O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.T1251	ENST00000258428.3	37	c.3753	CCDS2045.1	2																																																																																			REV1	-	pirsf_REV1	ENSG00000135945		0.378	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	-	0	52	0	T	NM_016316		100017707	-1	tier1	-	no_errors	ENST00000258428	ensembl	human	known	74_37	silent	26.67	33	12	SNP	0.070	C	C	100017707	T	C	100017707	2	2	26	1	0	0	0	0	0	0	0	1	13284	1451	51	4		4	REV1	2	100017707	Silent	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	2487649	100017707	143181666	50	6602											
REV1	51455	genome.wustl.edu	37	chr2	100019123	100019123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacctgaaattgtagttatCcattctctgagcaaggtctt	11	14	7	9	0	2	2	0	2	2	0	4	2	3	2	2	1	2	3	2	1	5	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:100019123C>A	ENST00000258428.3	-	21	3753	c.3525G>T	c.(3523-3525)tgG>tgT	p.W1175C	REV1_ENST00000465835.1_5'Flank|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Missense_Mutation_p.W1174C	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1175	Protein interaction domain; mediates interaction with DNA polymerase zeta.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGTAGTTATCCATTCTCTGA	0.463								Direct reversal of damage																																									0													86	80	82					2																	100019123		2203	4300	6503	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3525G>T	2.37:g.100019123C>A	ENSP00000258428:p.Trp1175Cys		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.W1175C	ENST00000258428.3	37	c.3525	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408071	0.83340	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	D;D	0.83591	-1.73;-1.74	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.91362	0.7275	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.90021	0.4128	10	0.46703	T	0.11	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	1175;1174	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	C	1174;1175	ENSP00000377091:W1174C;ENSP00000258428:W1175C	ENSP00000258428:W1175C	W	-	3	0	REV1	99385555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.844000	0.75390	2.825000	0.97269	0.655000	0.94253	TGG	REV1	-	pirsf_REV1	ENSG00000135945		0.463	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	-	0	28	0	C	NM_016316		100019123	-1	tier1	-	no_errors	ENST00000258428	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	A	A	100019123	C	A	100019123	3	1	26	1	0	0	0	0	1	0	0	0	13284	856	30	3	242	3	REV1	2	100019123	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1416	100019123	143180250	51	6603											
SLC9A4	389015	genome.wustl.edu	37	chr2	103120146	103120146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttagctgctgaaaccctCtatctctccggcatcctggc	7	12	7	15	1	2	1	0	1	2	0	5	1	4	1	3	2	4	3	3	2	4	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:103120146C>T	ENST00000295269.4	+	3	1417	c.960C>T	c.(958-960)ctC>ctT	p.L320L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	320					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGAAACCCTCTATCTCTCCG	0.428																																																	0													147	139	141					2																	103120146		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.960C>T	2.37:g.103120146C>T			Q69YK0	Silent	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.L320	ENST00000295269.4	37	c.960	CCDS33264.1	2																																																																																			SLC9A4	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000180251		0.428	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1		0	31	0	C	NM_001011552.3		103120146	1			no_errors	ENST00000295269	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.999	T	T	103120146	C	T	103120146	2	4	26	1	0	0	0	0	0	0	0	1	14761	900	32	3		3	SLC9A4	2	103120146	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3101023	103120146	140079227	52	6604											
GCC2	9648	genome.wustl.edu	37	chr2	109089316	109089316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcaccttctgtaaaaaatGatcctctgtcttcagtaaaa	15	13	4	9	0	5	1	2	1	3	0	6	1	6	1	2	0	0	2	2	0	6	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:109089316G>A	ENST00000309863.6	+	7	3535	c.2821G>A	c.(2821-2823)Gat>Aat	p.D941N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	941					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGTAAAAAATGATCCTCTGTC	0.308																																																	0													64	65	65					2																	109089316		2201	4297	6498	SO:0001583	missense	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2821G>A	2.37:g.109089316G>A	ENSP00000307939:p.Asp941Asn		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.D941N	ENST00000309863.6	37	c.2821	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480818	0.44044	.	.	ENSG00000135968	ENST00000309863;ENST00000409896	T	0.35236	1.32	4.95	4.06	0.47325	.	0.222293	0.41823	D	0.000816	T	0.51176	0.1659	M	0.65975	2.015	0.39519	D	0.968482	D	0.65815	0.995	P	0.57425	0.82	T	0.54091	-0.8345	10	0.33141	T	0.24	.	14.8516	0.70300	0.0:0.1445:0.8555:0.0	.	941	Q8IWJ2	GCC2_HUMAN	N	941;904	ENSP00000307939:D941N	ENSP00000307939:D941N	D	+	1	0	GCC2	108455748	1.000000	0.71417	0.964000	0.40570	0.012000	0.07955	1.725000	0.38074	1.423000	0.47198	0.557000	0.71058	GAT	GCC2	-	NULL	ENSG00000135968		0.308	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3	-	0	36	0	G	NM_014635		109089316	1	tier1	-	no_errors	ENST00000309863	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A	A	109089316	G	A	109089316	3	1	26	1	0	0	0	0	1	0	0	0	6311	1290	45	3	2847	3	GCC2	2	109089316	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5969170	109089316	134110057	53	6605											
DPP10	57628	genome.wustl.edu	37	chr2	116599859	116599859	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcacaatcctcaaattcTtcagtgattgtttgaaggaa	14	12	7	8	0	3	2	2	2	1	0	4	3	4	3	1	1	1	2	1	1	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:116599859T>G	ENST00000410059.1	+	26	2809	c.2329T>G	c.(2329-2331)Ttc>Gtc	p.F777V	DPP10_ENST00000393147.2_Missense_Mutation_p.F781V|DPP10_ENST00000409163.1_Missense_Mutation_p.F727V|DPP10_ENST00000310323.8_Missense_Mutation_p.F770V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	777						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTCAAATTCTTCAGTGATTG	0.378																																																	0													103	97	99					2																	116599859		2203	4300	6503	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2329T>G	2.37:g.116599859T>G	ENSP00000386565:p.Phe777Val		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.F781V	ENST00000410059.1	37	c.2341	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573050	0.65765	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.73	5.73	0.89815	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.055231	0.64402	D	0.000001	T	0.65260	0.2674	L	0.58925	1.835	0.50632	D	0.999885	D;D;D;D	0.76494	0.999;0.983;0.999;0.999	D;P;D;D	0.74674	0.973;0.885;0.984;0.984	T	0.67597	-0.5630	10	0.72032	D	0.01	-25.8806	15.4929	0.75624	0.0:0.0:0.0:1.0	.	770;781;773;777	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	V	777;727;781;770	ENSP00000386565:F777V;ENSP00000387038:F727V;ENSP00000376855:F781V;ENSP00000309066:F770V	ENSP00000309066:F770V	F	+	1	0	DPP10	116316329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.849000	0.75414	2.308000	0.77769	0.533000	0.62120	TTC	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.378	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	33	0	T	NM_020868		116599859	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	G	G	116599859	T	G	116599859	3	3	26	1	0	0	0	0	1	0	0	0	4741	1609	56	4	2602	4	DPP10	2	116599859	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	7510543	116599859	126599514	54	6606											
TUBA3E	112714	genome.wustl.edu	37	chr2	130949566	130949566	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcccacttggcatacatGagatcgaacttatggaccag	13	8	10	10	1	0	1	0	1	0	1	1	4	0	2	2	3	2	1	2	3	4	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:130949566G>C	ENST00000312988.7	-	5	1291	c.1191C>G	c.(1189-1191)ctC>ctG	p.L397L		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	397					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TGGCATACATGAGATCGAACT	0.632																																																	0													117	116	116					2																	130949566		2203	4300	6503	SO:0001819	synonymous_variant	0			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1191C>G	2.37:g.130949566G>C				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.L397	ENST00000312988.7	37	c.1191	CCDS2158.1	2																																																																																			TUBA3E	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000152086		0.632	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1	-	0	47	0	G	NM_207312		130949566	-1	tier1	-	no_errors	ENST00000312988	ensembl	human	known	74_37	silent	24.59	46	15	SNP	1.000	C	C	130949566	G	C	130949566	2	2	26	1	0	0	0	0	0	0	0	1	16797	1277	45	5		5	TUBA3E	2	130949566	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	14349707	130949566	112249807	55	6607											
NCKAP5	344148	genome.wustl.edu	37	chr2	133541104	133541104	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggggtgtggaggcgctatCattcaattgtccttttctcc	5	14	13	9	1	3	0	2	0	1	0	5	1	4	1	2	5	0	1	2	5	2	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:133541104C>G	ENST00000409261.1	-	14	3653	c.3280G>C	c.(3280-3282)Gat>Cat	p.D1094H	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1094H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1094	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGCGCTATCATTCAATTGT	0.498																																																	0													256	268	264					2																	133541104		2004	4167	6171	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3280G>C	2.37:g.133541104C>G	ENSP00000387128:p.Asp1094His		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.D1094H	ENST00000409261.1	37	c.3280	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297322	0.23650	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11712	2.75;2.75	5.41	4.53	0.55603	.	0.380247	0.18438	U	0.141229	T	0.07052	0.0179	L	0.29908	0.895	0.21878	N	0.999491	B	0.27700	0.186	B	0.25759	0.063	T	0.28618	-1.0038	10	0.49607	T	0.09	.	2.4541	0.04525	0.1557:0.5342:0.15:0.16	.	1094	O14513	NCKP5_HUMAN	H	1094	ENSP00000387128:D1094H;ENSP00000380603:D1094H	ENSP00000380603:D1094H	D	-	1	0	NCKAP5	133257574	0.003000	0.15002	0.038000	0.18304	0.118000	0.20060	0.851000	0.27751	1.521000	0.48983	0.655000	0.94253	GAT	NCKAP5	-	NULL	ENSG00000176771		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	61	0	C	NM_207481		133541104	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	30.00	63	27	SNP	0.218	G	G	133541104	C	G	133541104	3	3	26	1	0	0	0	0	1	0	0	0	10262	826	29	5	2477	5	NCKAP5	2	133541104	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2591538	133541104	109658269	56	6608											
ZNF804A	91752	genome.wustl.edu	37	chr2	185800688	185800688	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttgctgaagatccagaaAgtgcaaataattatacagca	16	10	8	7	0	0	3	0	1	0	2	1	3	1	3	1	0	4	4	1	0	6	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:185800688A>C	ENST00000302277.6	+	4	1159	c.565A>C	c.(565-567)Agt>Cgt	p.S189R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	189							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGATCCAGAAAGTGCAAATAA	0.363																																																	0													65	68	67					2																	185800688		2203	4300	6503	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.565A>C	2.37:g.185800688A>C	ENSP00000303252:p.Ser189Arg		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S189R	ENST00000302277.6	37	c.565	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790446	0.50102	.	.	ENSG00000170396	ENST00000302277	T	0.06371	3.31	5.52	5.52	0.82312	.	0.391778	0.24659	N	0.036657	T	0.05044	0.0135	L	0.27053	0.805	0.31088	N	0.711113	P	0.45902	0.868	B	0.36666	0.23	T	0.09465	-1.0673	10	0.66056	D	0.02	-4.9259	10.8153	0.46571	0.9237:0.0:0.0763:0.0	.	189	Q7Z570	Z804A_HUMAN	R	189	ENSP00000303252:S189R	ENSP00000303252:S189R	S	+	1	0	ZNF804A	185508933	1.000000	0.71417	0.613000	0.29037	0.749000	0.42624	4.294000	0.59043	2.098000	0.63641	0.383000	0.25322	AGT	ZNF804A	-	NULL	ENSG00000170396		0.363	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	25	0	A	NM_194250		185800688	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.950	C	C	185800688	A	C	185800688	3	2	26	1	0	0	0	0	1	0	0	0	18218	72	3	4	579	4	ZNF804A	2	185800688	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	52259584	185800688	57398685	57	6609											
SATB2	23314	genome.wustl.edu	37	chr2	200298187	200298187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttctctgttgtcatattCaagagagccgtccaactgct	8	15	7	11	1	4	1	2	0	2	1	6	2	5	1	2	0	3	2	2	0	3	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:200298187C>G	ENST00000417098.1	-	3	1036	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q	SATB2_ENST00000457245.1_Missense_Mutation_p.E74Q|SATB2_ENST00000428695.1_Missense_Mutation_p.E74Q|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.E74Q	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	74					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGTCATATTCAAGAGAGCCG	0.468																																					Colon(30;262 767 11040 24421 36230)												0													113	112	113					2																	200298187		2203	4300	6503	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.220G>C	2.37:g.200298187C>G	ENSP00000401112:p.Glu74Gln		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.E74Q	ENST00000417098.1	37	c.220	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966656	0.53507	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.86	5.86	0.93980	.	0.234965	0.39020	N	0.001496	T	0.59555	0.2202	L	0.29908	0.895	0.35902	D	0.830477	B;D	0.63046	0.004;0.992	B;P	0.61003	0.004;0.882	T	0.61758	-0.6997	10	0.33940	T	0.23	-12.825	18.3607	0.90374	0.0:1.0:0.0:0.0	.	74;74	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	Q	74	ENSP00000401112:E74Q;ENSP00000260926:E74Q;ENSP00000388581:E74Q;ENSP00000405420:E74Q	ENSP00000260926:E74Q	E	-	1	0	SATB2	200006432	1.000000	0.71417	0.990000	0.47175	0.963000	0.63663	7.506000	0.81665	2.777000	0.95525	0.655000	0.94253	GAA	SATB2	-	NULL	ENSG00000119042		0.468	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1	-	0	21	0	C	NM_015265		200298187	-1	tier1	-	no_errors	ENST00000260926	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.997	G	G	200298187	C	G	200298187	3	3	26	1	0	0	0	0	1	0	0	0	13899	835	29	5	2017	5	SATB2	2	200298187	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	14497499	200298187	42901186	58	6610											
CHRND	1144	genome.wustl.edu	37	chr2	233394716	233394716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccagagcccctctggaCagccccagccgccaggacat	9	3	10	19	1	1	1	0	0	1	1	1	4	1	3	8	2	3	0	8	2	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:233394716C>A	ENST00000258385.3	+	7	719	c.687C>A	c.(685-687)gaC>gaA	p.D229E	CHRND_ENST00000543200.1_Missense_Mutation_p.D214E|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Missense_Mutation_p.Q193K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	229					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	CCCCTCTGGACAGCCCCAGCC	0.617																																																	0													129	112	118					2																	233394716		2203	4300	6503	SO:0001583	missense	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.687C>A	2.37:g.233394716C>A	ENSP00000258385:p.Asp229Glu		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D229E	ENST00000258385.3	37	c.687	CCDS2494.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.422|9.422	1.083323|1.083323	0.20309|0.20309	.|.	.|.	ENSG00000135902|ENSG00000135902	ENST00000543200;ENST00000258385|ENST00000536614	T;T|T	0.78707|0.72167	-1.2;-1.2|-0.63	5.02|5.02	5.02|5.02	0.67125|0.67125	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.240323|.	0.41294|.	D|.	0.000910|.	T|T	0.59905|0.59905	0.2228|0.2228	N|N	0.12527|0.12527	0.23|0.23	0.80722|0.80722	D|D	1|1	B;B;B|.	0.15719|.	0.014;0.0;0.0|.	B;B;B|.	0.16289|.	0.015;0.002;0.002|.	T|T	0.57991|0.57991	-0.7715|-0.7715	10|7	0.13108|0.22706	T|T	0.6|0.39	.|.	15.1505|15.1505	0.72692|0.72692	0.0:0.7177:0.2823:0.0|0.0:0.7177:0.2823:0.0	.|.	214;229;229|.	B4DT92;A8K661;Q07001|.	.;.;ACHD_HUMAN|.	E|K	214;229|193	ENSP00000438380:D214E;ENSP00000258385:D229E|ENSP00000437740:Q193K	ENSP00000258385:D229E|ENSP00000408819:Q193K	D|Q	+|+	3|1	2|0	CHRND|CHRND	233102960|233102960	0.937000|0.937000	0.31787|0.31787	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	-0.002000|-0.002000	0.12924|0.12924	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	GAC|CAG	CHRND	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000135902		0.617	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	-	0	64	0	C			233394716	1	tier1	-	no_errors	ENST00000258385	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	A	A	233394716	C	A	233394716	3	1	26	1	0	0	0	0	1	0	0	0	3401	477	17	3	713	3	CHRND	2	233394716	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	33096529	233394716	9804657	59	6611											
UBE2F	140739	genome.wustl.edu	37	chr2	238949975	238949975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctacatcaaacgttatgccaGatgataaaaggggacgattg	15	9	10	7	2	1	2	1	1	0	1	1	4	1	3	1	2	3	1	1	2	5	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr2:238949975G>C	ENST00000272930.4	+	10	748	c.554G>C	c.(553-555)aGa>aCa	p.R185T	UBE2F_ENST00000414443.1_Missense_Mutation_p.R153T|UBE2F_ENST00000409332.1_Missense_Mutation_p.R163T|UBE2F-SCLY_ENST00000449191.1_Missense_Mutation_p.R131T|UBE2F_ENST00000409633.1_Missense_Mutation_p.R164T|UBE2F_ENST00000409953.1_Missense_Mutation_p.R161T	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	185					protein neddylation (GO:0045116)		ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CGTTATGCCAGATGATAAAAG	0.493																																																	0													109	105	107					2																	238949975		2203	4300	6503	SO:0001583	missense	0			BC010549	CCDS2523.1, CCDS63175.1, CCDS63176.1, CCDS63177.1	2q37.3	2008-02-05	2005-12-15		ENSG00000184182	ENSG00000184182		"Ubiquitin-conjugating enzymes E2"	12480	protein-coding gene	gene with protein product	"NEDD8 conjugating enzyme"					12477932	Standard	NM_080678		Approved	NCE2	uc031rrz.1	Q969M7	OTTHUMG00000133341	ENST00000272930.4:c.554G>C	2.37:g.238949975G>C	ENSP00000272930:p.Arg185Thr		A8K1Z8|B4DDT9|B4DFI1|B4DMK3|B4DZU2|B8ZZG2|C9J212|H9KVB9	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R185T	ENST00000272930.4	37	c.554	CCDS2523.1	2	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836206	0.71373	.	.	ENSG00000184182	ENST00000272930;ENST00000409633;ENST00000414443;ENST00000409953;ENST00000409332	T;D;T;T;T	0.84944	-0.19;-1.92;1.4;1.42;1.45	5.95	5.95	0.96441	Ubiquitin-conjugating enzyme/RWD-like (1);	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	N	0.20401	0.57	0.47476	D	0.999435	D;P	0.53462	0.96;0.951	P;D	0.70935	0.678;0.971	D	0.88296	0.2946	10	0.87932	D	0	-18.1438	15.8855	0.79244	0.0:0.0:1.0:0.0	.	153;185	Q969M7-3;Q969M7	.;UBE2F_HUMAN	T	185;164;153;161;163	ENSP00000272930:R185T;ENSP00000387299:R164T;ENSP00000399183:R153T;ENSP00000386680:R161T;ENSP00000387060:R163T	ENSP00000272930:R185T	R	+	2	0	UBE2F	238614714	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	6.903000	0.75703	2.825000	0.97269	0.655000	0.94253	AGA	UBE2F	-	superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000184182		0.493	UBE2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2F	HGNC	protein_coding	OTTHUMT00000257171.2	-	0	81	0	G	NM_080678		238949975	1	tier1	-	no_errors	ENST00000272930	ensembl	human	known	74_37	missense	13.33	65	10	SNP	1.000	C	C	238949975	G	C	238949975	3	2	26	1	0	0	0	0	1	0	0	0	16904	942	33	5	588	5	UBE2F	2	238949975	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5555259	238949975	4249398	60	6612											
VGLL4	10533	genome.wustl.edu	37	chr3	11600101	11600101	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcgggctggcccctgcGagaggcggactcagggctgc	4	5	19	13	3	1	1	1	0	0	1	1	3	1	2	2	6	2	3	2	6	0	0	rs377034464	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:11600101G>A	ENST00000354449.3	+	0	4959				VGLL4_ENST00000413604.1_Missense_Mutation_p.R209C|VGLL4_ENST00000404339.1_Missense_Mutation_p.R273C|VGLL4_ENST00000430365.2_Missense_Mutation_p.R274C|VGLL4_ENST00000273038.3_Missense_Mutation_p.R268C|VGLL4_ENST00000451674.2_Missense_Mutation_p.R188C|VGLL4_ENST00000424529.2_Missense_Mutation_p.R184C	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGGCCCCTGCGAGAGGCGGAC	0.652																																																	0													50	57	55					3																	11600101		2203	4300	6503	SO:0001628	intergenic_variant	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600101G>A			B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	smart_TDU_repeat	p.R274C	ENST00000354449.3	37	c.820	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273674	0.59649	.	.	ENSG00000144560	ENST00000273038;ENST00000413604;ENST00000451674;ENST00000424529;ENST00000430365;ENST00000404339	T;T;T	0.49432	0.79;0.79;0.78	5.01	4.04	0.47022	.	0.000000	0.64402	D	0.000003	T	0.61464	0.2349	L	0.47716	1.5	0.46774	D	0.999193	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.65504	-0.6152	10	0.87932	D	0	-47.2405	14.7559	0.69564	0.0:0.0:0.793:0.207	.	274;188;184;273;268	G5E9M7;Q14135-6;Q14135-5;G5E9F4;Q14135	.;.;.;.;VGLL4_HUMAN	C	268;209;188;184;274;273	ENSP00000273038:R268C;ENSP00000404251:R274C;ENSP00000384705:R273C	ENSP00000273038:R268C	R	-	1	0	VGLL4	11575101	0.910000	0.30920	0.833000	0.33012	0.862000	0.49288	1.515000	0.35845	2.321000	0.78463	0.563000	0.77884	CGC	VGLL4	-	NULL	ENSG00000144560		0.652	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL4	HGNC	protein_coding	OTTHUMT00000251951.3	-	0	99	0	G	NM_006395		11600101	-1	tier1	-	no_errors	ENST00000430365	ensembl	human	known	74_37	missense	14.29	89	15	SNP	0.494	A	A	11600101	G	A	11600101	1	1	26	0	1	0	0	0	0	0	0	0	17210	1058	37	1		1	VGLL4	3	11600101	IGR	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		11600101	186422329	61	6613											
CAND2	23066	genome.wustl.edu	37	chr3	12873053	12873053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgactcattgagccactaagGgccacctgcactgccaaggt	10	7	10	14	1	1	1	1	1	0	0	1	2	1	1	4	2	3	1	4	2	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:12873053G>T	ENST00000456430.2	+	14	3506	c.3465G>T	c.(3463-3465)agG>agT	p.R1155S	RP11-767C1.2_ENST00000606447.1_RNA|CAND2_ENST00000295989.5_Missense_Mutation_p.R1038S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	1155					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCACTAAGGGCCACCTGCA	0.622																																					GBM(43;676 868 1633 6395 37496)												0													38	40	40					3																	12873053		2025	4173	6198	SO:0001583	missense	0				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.3465G>T	3.37:g.12873053G>T	ENSP00000387641:p.Arg1155Ser		B9EGM9|E9KL24	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.R1155S	ENST00000456430.2	37	c.3465	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531608	0.64972	.	.	ENSG00000144712	ENST00000295989;ENST00000456430;ENST00000454887	T;T;T	0.66815	-0.23;-0.23;-0.23	5.14	1.86	0.25419	TATA-binding protein interacting (TIP20) (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.057727	0.64402	D	0.000004	T	0.69620	0.3131	M	0.73319	2.225	0.45962	D	0.998781	P;B	0.45768	0.866;0.161	P;B	0.51974	0.686;0.079	T	0.66440	-0.5923	10	0.44086	T	0.13	-22.9611	7.0606	0.25123	0.3857:0.0:0.6143:0.0	.	1155;1038	O75155;O75155-2	CAND2_HUMAN;.	S	1038;1155;83	ENSP00000295989:R1038S;ENSP00000387641:R1155S;ENSP00000403093:R83S	ENSP00000295989:R1038S	R	+	3	2	CAND2	12848053	0.993000	0.37304	1.000000	0.80357	0.959000	0.62525	0.345000	0.19979	0.540000	0.28808	0.591000	0.81541	AGG	CAND2	-	pfam_TATA-bd_TIP120,superfamily_ARM-type_fold	ENSG00000144712		0.622	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	-	0	37	0	G	XM_371617		12873053	1	tier1	-	no_errors	ENST00000456430	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.995	T	T	12873053	G	T	12873053	3	4	26	1	0	0	0	0	1	0	0	0	2623	1223	43	3	3519	3	CAND2	3	12873053	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1272952	12873053	185149377	62	6614											
TTC21A	199223	genome.wustl.edu	37	chr3	39159627	39159627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtgcatgagcttgcaagaGaaggaaacatgaccacagta	15	6	11	9	1	0	3	0	2	0	1	0	5	0	4	2	1	4	4	2	1	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:39159627G>A	ENST00000431162.2	+	7	918	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	TTC21A_ENST00000301819.6_Missense_Mutation_p.E262K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E221K			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	262										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTTGCAAGAGAAGGAAACAT	0.438																																																	0													158	156	156					3																	39159627		1993	4179	6172	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.784G>A	3.37:g.39159627G>A	ENSP00000398211:p.Glu262Lys		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E262K	ENST00000431162.2	37	c.784	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801381	0.90538	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.36699	1.24;1.24;2.31	5.43	5.43	0.79202	.	0.070445	0.56097	D	0.000035	T	0.49474	0.1559	L	0.60455	1.87	0.45056	D	0.998075	D;D;D;D;D	0.61697	0.962;0.972;0.99;0.982;0.972	P;P;P;P;P	0.56398	0.68;0.737;0.797;0.631;0.737	T	0.31081	-0.9956	10	0.22109	T	0.4	-14.79	16.7468	0.85474	0.0:0.0:1.0:0.0	.	221;262;262;262;262	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	K	262;262;262;221	ENSP00000301819:E262K;ENSP00000398211:E262K;ENSP00000410882:E221K	ENSP00000301819:E262K	E	+	1	0	TTC21A	39134631	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.427000	0.59888	2.551000	0.86045	0.563000	0.77884	GAA	TTC21A	-	NULL	ENSG00000168026		0.438	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1		0	34	0	G	NM_145755		39159627	1			no_errors	ENST00000301819	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A	A	39159627	G	A	39159627	3	1	26	1	0	0	0	0	1	0	0	0	16736	943	33	3	810	3	TTC21A	3	39159627	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	26286574	39159627	158862803	63	6615											
DNAH1	25981	genome.wustl.edu	37	chr3	52414133	52414133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtcaagtcctacgagctCatcaccagtgagagtaaggt	12	9	11	9	1	3	1	3	1	0	1	4	4	4	1	2	1	2	2	2	1	3	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:52414133C>T	ENST00000420323.2	+	48	7851	c.7590C>T	c.(7588-7590)ctC>ctT	p.L2530L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2530					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTACGAGCTCATCACCAGTG	0.622																																																	0													38	39	38					3																	52414133		1970	4142	6112	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7590C>T	3.37:g.52414133C>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.L2530	ENST00000420323.2	37	c.7590	CCDS46842.1	3																																																																																			DNAH1	-	NULL	ENSG00000114841		0.622	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	33	0	C	NM_015512		52414133	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	T	T	52414133	C	T	52414133	2	4	26	1	0	0	0	0	0	0	0	1	4611	813	29	3		3	DNAH1	3	52414133	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	13254506	52414133	145608297	64	6616											
SLC9A10	285335	genome.wustl.edu	37	chr3	111997672	111997672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaaaaataagtctggactCatccattgtatggcgtttgc	12	12	9	8	2	2	0	1	0	1	0	3	2	3	1	1	2	1	2	1	2	5	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:111997672C>T	ENST00000305815.5	-	4	474	c.222G>A	c.(220-222)atG>atA	p.M74I	SLC9C1_ENST00000487372.1_Missense_Mutation_p.M74I|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	74				M -> I (in Ref. 1; BAC87265). {ECO:0000305}.	cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGTCTGGACTCATCCATTGTA	0.323																																																	0													116	125	122					3																	111997672		2202	4300	6502	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.222G>A	3.37:g.111997672C>T	ENSP00000306627:p.Met74Ile		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.M74I	ENST00000305815.5	37	c.222	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	C	4.647	0.120356	0.08881	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.10668	2.85;2.85;2.85	5.14	2.4	0.29515	Cation/H+ exchanger (1);	0.180731	0.39687	N	0.001281	T	0.08268	0.0206	L	0.53249	1.67	0.24245	N	0.995342	B;B	0.17465	0.022;0.022	B;B	0.12837	0.007;0.008	T	0.45396	-0.9264	10	0.02654	T	1	-12.3627	7.4059	0.26991	0.0:0.7248:0.0:0.2752	.	74;74	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	I	74;74;1	ENSP00000306627:M74I;ENSP00000420688:M74I;ENSP00000417274:M1I	ENSP00000306627:M74I	M	-	3	0	SLC9A10	113480362	0.060000	0.20803	0.409000	0.26459	0.058000	0.15608	0.060000	0.14342	0.285000	0.22329	-0.140000	0.14226	ATG	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1		0	27	0	C	NM_183061		111997672	-1			no_errors	ENST00000305815	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.560	T	T	111997672	C	T	111997672	3	4	26	1	0	0	0	0	1	0	0	0	14755	826	29	3	3415	3	SLC9A10	3	111997672	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	59583539	111997672	86024758	65	6617											
MYLK	4638	genome.wustl.edu	37	chr3	123419182	123419182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcccatgggcttcagggtctCggcaggcttggcgttgccca	4	9	15	13	2	2	0	1	0	1	0	3	0	2	0	2	5	1	4	2	5	0	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:123419182C>G	ENST00000475616.1	-	15	3132	c.3133G>C	c.(3133-3135)Gag>Cag	p.E1045Q	MYLK_ENST00000346322.5_Missense_Mutation_p.E976Q|MYLK_ENST00000360304.3_Missense_Mutation_p.E1045Q|MYLK_ENST00000360772.3_Missense_Mutation_p.E1045Q|MYLK_ENST00000359169.1_Missense_Mutation_p.E1045Q|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	1045	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCAGGGTCTCGGCAGGCTTG	0.547																																																	0													194	201	199					3																	123419182		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3133G>C	3.37:g.123419182C>G	ENSP00000418335:p.Glu1045Gln		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E1045Q	ENST00000475616.1	37	c.3133	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	C	8.998	0.979390	0.18812	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.69306	-0.39;-0.35;-0.39;-0.33;-0.35	5.5	5.5	0.81552	.	.	.	.	.	T	0.80042	0.4551	M	0.75264	2.295	0.58432	D	0.999996	D;D;D;D;D;D	0.76494	0.998;0.978;0.999;0.979;0.999;0.987	D;P;D;P;D;P	0.70716	0.945;0.676;0.954;0.758;0.97;0.782	T	0.78448	-0.2200	9	0.34782	T	0.22	.	14.8886	0.70590	0.0:1.0:0.0:0.0	.	1045;123;976;1045;976;1045	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	Q	1045;1045;1045;976;1045	ENSP00000354004:E1045Q;ENSP00000353452:E1045Q;ENSP00000352088:E1045Q;ENSP00000320622:E976Q;ENSP00000418335:E1045Q	ENSP00000320622:E976Q	E	-	1	0	MYLK	124901872	0.822000	0.29219	0.952000	0.39060	0.187000	0.23431	1.141000	0.31528	2.575000	0.86900	0.462000	0.41574	GAG	MYLK	-	NULL	ENSG00000065534		0.547	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0	56	0	C	NM_053025		123419182	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	19.28	67	16	SNP	0.340	G	G	123419182	C	G	123419182	3	3	26	1	0	0	0	0	1	0	0	0	10094	893	31	5	2679	5	MYLK	3	123419182	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	11421510	123419182	74603248	66	6618											
SOX14	8403	genome.wustl.edu	37	chr3	137484324	137484324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactggcatagacccttattCgtcagcccacgctacggcca	9	8	9	15	3	1	1	1	0	0	1	2	2	1	1	3	2	2	2	3	2	3	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:137484324C>T	ENST00000306087.1	+	1	746	c.698C>T	c.(697-699)tCg>tTg	p.S233L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	233					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S233L(1)		large_intestine(2)|lung(12)	14						GACCCTTATTCGTCAGCCCAC	0.652																																																	1	Substitution - Missense(1)	large_intestine(1)											49	40	43					3																	137484324		2186	4263	6449	SO:0001583	missense	0			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.698C>T	3.37:g.137484324C>T	ENSP00000305343:p.Ser233Leu		B2RAC0|Q3KPH7	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S233L	ENST00000306087.1	37	c.698	CCDS3094.1	3	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417999	0.42918	.	.	ENSG00000168875	ENST00000306087	D	0.96200	-3.94	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.88250	0.6386	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	D	0.83622	0.0140	10	0.31617	T	0.26	.	17.388	0.87422	0.0:1.0:0.0:0.0	.	233	O95416	SOX14_HUMAN	L	233	ENSP00000305343:S233L	ENSP00000305343:S233L	S	+	2	0	SOX14	138967014	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.602000	0.82796	2.333000	0.79357	0.561000	0.74099	TCG	SOX14	-	NULL	ENSG00000168875		0.652	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	HGNC	protein_coding	OTTHUMT00000357182.1		0	49	0	C	NM_004189		137484324	1			no_errors	ENST00000306087	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	T	T	137484324	C	T	137484324	3	4	26	1	0	0	0	0	1	0	0	0	14990	893	31	1	700	1	SOX14	3	137484324	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	14065142	137484324	60538106	67	6619											
ZBTB38	253461	genome.wustl.edu	37	chr3	141162094	141162094	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaccccctccagtatcCaacttagaggttaatcaaga	14	9	5	13	0	1	2	1	0	0	2	3	2	3	2	5	1	2	2	5	1	6	4	rs147594598	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:141162094C>G	ENST00000514251.1	+	4	1143	c.864C>G	c.(862-864)tcC>tcG	p.S288S	ZBTB38_ENST00000321464.5_Silent_p.S289S|ZBTB38_ENST00000441582.2_Silent_p.S288S					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTCCAGTATCCAACTTAGAGG	0.458																																																	0													80	77	78					3																	141162094		1884	4104	5988	SO:0001819	synonymous_variant	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.864C>G	3.37:g.141162094C>G				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S289	ENST00000514251.1	37	c.867	CCDS43157.1	3																																																																																			ZBTB38	-	NULL	ENSG00000177311		0.458	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	-	0	27	0	C			141162094	1	tier1	-	no_errors	ENST00000321464	ensembl	human	known	74_37	silent	32.56	29	14	SNP	0.018	G	G	141162094	C	G	141162094	2	3	26	1	0	0	0	0	0	0	0	1	17587	581	21	5		5	ZBTB38	3	141162094	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3677770	141162094	56860336	68	6620											
CP	1356	genome.wustl.edu	37	chr3	148896253	148896253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatctttgtttactttctCggggtgatcagagtatgttt	7	19	9	6	1	4	2	2	1	2	1	5	2	4	2	0	2	1	3	0	2	2	6	rs571448440		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:148896253C>T	ENST00000264613.6	-	16	3089	c.2827G>A	c.(2827-2829)Gag>Aag	p.E943K		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	943	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTACTTTCTCGGGGTGATCA	0.323													C|||	1	0.000199681	0	0	5008	,	,		19234	0.001		0	False		,,,				2504	0																0													122	115	117					3																	148896253		2202	4300	6502	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2827G>A	3.37:g.148896253C>T	ENSP00000264613:p.Glu943Lys		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.E943K	ENST00000264613.6	37	c.2827	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	C	9.959	1.222300	0.22457	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.98602	-5.02;-5.02;-5.02	5.68	3.88	0.44766	Cupredoxin (2);	0.433490	0.27016	N	0.021351	D	0.93442	0.7908	N	0.25245	0.725	0.09310	N	1	B;B;B;B	0.19706	0.038;0.038;0.009;0.001	B;B;B;B	0.15870	0.014;0.014;0.006;0.004	T	0.82697	-0.0329	10	0.07325	T	0.83	-18.8381	9.1893	0.37189	0.0:0.7318:0.1276:0.1405	.	943;943;943;656	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	K	78;943;726	ENSP00000420367:E78K;ENSP00000264613:E943K;ENSP00000420545:E726K	ENSP00000264613:E943K	E	-	1	0	CP	150378943	0.794000	0.28838	0.979000	0.43373	0.939000	0.58152	2.187000	0.42602	1.412000	0.46977	0.650000	0.86243	GAG	CP	-	pfam_Cu-oxidase,superfamily_Cupredoxin	ENSG00000047457		0.323	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	-	0	38	0	C	NM_000096		148896253	-1	tier1	-	no_errors	ENST00000264613	ensembl	human	known	74_37	missense	17.44	71	15	SNP	0.020	T	T	148896253	C	T	148896253	3	4	26	1	0	0	0	0	1	0	0	0	3794	893	31	1	386	1	CP	3	148896253	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	7734159	148896253	49126177	69	6621											
ATP13A4	84239	genome.wustl.edu	37	chr3	193210921	193210921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaagtagttccaaacatatCttattttctgcactttgatg	11	17	5	8	0	2	1	0	1	2	0	3	1	3	1	1	0	2	3	1	0	5	8			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr3:193210921C>T	ENST00000342695.4	-	4	732	c.410G>A	c.(409-411)aGa>aAa	p.R137K	ATP13A4_ENST00000295548.3_Missense_Mutation_p.R137K|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R137K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	137						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCAAACATATCTTATTTTCTG	0.343																																																	0													90	86	87					3																	193210921		2202	4298	6500	SO:0001583	missense	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.410G>A	3.37:g.193210921C>T	ENSP00000339182:p.Arg137Lys		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.R137K	ENST00000342695.4	37	c.410	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757292	0.69648	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	T;T;T	0.28666	1.6;1.6;1.6	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000016	T	0.40145	0.1105	L	0.42744	1.35	0.31161	N	0.704321	P;D	0.55172	0.927;0.97	P;P	0.59948	0.668;0.866	T	0.29336	-1.0015	10	0.20519	T	0.43	-1.1749	11.6766	0.51434	0.0:0.9188:0.0:0.0812	.	137;137	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	K	137	ENSP00000376238:R137K;ENSP00000339182:R137K;ENSP00000295548:R137K	ENSP00000295548:R137K	R	-	2	0	ATP13A4	194693615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.428000	0.52792	2.662000	0.90505	0.591000	0.81541	AGA	ATP13A4	-	pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000127249		0.343	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	-	0	15	0	C	NM_032279		193210921	-1	tier1	-	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	15.38	33	6	SNP	1.000	T	T	193210921	C	T	193210921	3	4	26	1	0	0	0	0	1	0	0	0	1127	913	32	3	3288	3	ATP13A4	3	193210921	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	44314668	193210921	4811509	70	6622											
KIAA1211	57482	genome.wustl.edu	37	chr4	57176886	57176886	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctccctggagctggaagtGagatggaagagaaggtaata	14	8	14	5	0	1	2	0	1	1	2	2	7	1	5	1	4	1	2	1	4	5	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:57176886G>C	ENST00000504228.1	+	4	445	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E107Q|KIAA1211_ENST00000505410.1_3'UTR|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E114Q			Q6ZU35	K1211_HUMAN	KIAA1211	114										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCTGGAAGTGAGATGGAAGA	0.423																																																	0													140	139	139					4																	57176886		1869	4108	5977	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.340G>C	4.37:g.57176886G>C	ENSP00000423366:p.Glu114Gln		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.E114Q	ENST00000504228.1	37	c.340	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996847	0.35226	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.15372	2.54;2.54;2.43	4.74	4.74	0.60224	.	.	.	.	.	T	0.29588	0.0738	L	0.51422	1.61	0.24535	N	0.994097	D;D;D	0.67145	0.996;0.971;0.971	P;P;P	0.62813	0.907;0.776;0.776	T	0.07424	-1.0773	9	0.33940	T	0.23	-19.7354	8.7649	0.34698	0.1005:0.0:0.8995:0.0	.	107;107;114	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Q	114;114;107;24	ENSP00000264229:E114Q;ENSP00000423366:E114Q;ENSP00000444006:E107Q	ENSP00000264229:E114Q	E	+	1	0	KIAA1211	56871643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.123000	0.57917	2.463000	0.83235	0.555000	0.69702	GAG	KIAA1211	-	NULL	ENSG00000109265		0.423	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	0	85	0	G	NM_020722		57176886	1	tier1	-	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	12.79	75	11	SNP	0.999	C	C	57176886	G	C	57176886	3	2	26	1	0	0	0	0	1	0	0	0	8242	1291	45	5	350	5	KIAA1211	4	57176886	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		57176886	133977390	71	6623											
CENPC1	1060	genome.wustl.edu	37	chr4	68378268	68378268	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattcttccttatcttttctAgtgctacttttcttgcttcc	4	22	4	11	0	4	0	0	0	4	0	6	1	6	0	2	0	3	2	2	0	3	11			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:68378268A>C	ENST00000273853.6	-	9	1714	c.1464T>G	c.(1462-1464)acT>acG	p.T488T		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	488					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										TATCTTTTCTAGTGCTACTTT	0.333																																																	0													79	65	69					4																	68378268		1797	4060	5857	SO:0001819	synonymous_variant	0			M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"centromere protein C 1"	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1464T>G	4.37:g.68378268A>C			Q8IW27|Q9P0M5	Silent	SNP	pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin	p.T488	ENST00000273853.6	37	c.1464	CCDS47063.1	4																																																																																			CENPC	-	NULL	ENSG00000145241		0.333	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPC	HGNC	protein_coding	OTTHUMT00000362001.2	-	0	25	0	A			68378268	-1	tier1	-	no_errors	ENST00000273853	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.000	C	C	68378268	A	C	68378268	2	2	26	1	0	0	0	0	0	0	0	1	3236	407	15	4		4	CENPC1	4	68378268	Silent	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	11201382	68378268	122776008	72	6624											
C4orf35	85438	genome.wustl.edu	37	chr4	71201540	71201540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacattaactgactctgatGagaagtttatcactgtgttt	11	16	7	7	0	2	3	1	3	1	1	2	4	2	3	0	0	2	2	0	0	4	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:71201540G>A	ENST00000273936.5	+	1	858	c.784G>A	c.(784-786)Gag>Aag	p.E262K		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	262					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGACTCTGATGAGAAGTTTAT	0.408																																																	0													98	96	96					4																	71201540		2203	4300	6503	SO:0001583	missense	0			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.784G>A	4.37:g.71201540G>A	ENSP00000273936:p.Glu262Lys		B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	NULL	p.E262K	ENST00000273936.5	37	c.784	CCDS3539.1	4	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876375	0.51801	.	.	ENSG00000145309	ENST00000273936	T	0.37058	1.22	4.01	4.01	0.46588	.	0.000000	0.42964	D	0.000628	T	0.46756	0.1409	L	0.34521	1.04	0.27288	N	0.95792	D	0.89917	1.0	D	0.87578	0.998	T	0.27468	-1.0073	10	0.87932	D	0	-48.5134	11.9411	0.52901	0.0:0.0:1.0:0.0	.	262	Q96KC9	CABS1_HUMAN	K	262	ENSP00000273936:E262K	ENSP00000273936:E262K	E	+	1	0	CABS1	71236129	0.999000	0.42202	0.998000	0.56505	0.141000	0.21300	4.113000	0.57851	2.528000	0.85240	0.655000	0.94253	GAG	CABS1	-	NULL	ENSG00000145309		0.408	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	CABS1	HGNC	protein_coding	OTTHUMT00000251561.3	-	0	29	0	G	NM_033122		71201540	1	tier1	-	no_errors	ENST00000273936	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.999	A	A	71201540	G	A	71201540	3	1	26	1	0	0	0	0	1	0	0	0	2272	1291	45	3	786	3	C4orf35	4	71201540	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2823272	71201540	119952736	73	6625											
NAA11	84779	genome.wustl.edu	37	chr4	80246828	80246828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgaggtgatatggccatgCgggacatcatctggttcctc	8	11	13	9	1	2	2	1	2	1	0	4	3	3	3	2	4	1	1	2	4	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:80246828C>T	ENST00000286794.4	-	1	376	c.204G>A	c.(202-204)ccG>ccA	p.P68P	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	68	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.P68P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TATGGCCATGCGGGACATCAT	0.582																																																	1	Substitution - coding silent(1)	lung(1)											111	111	111					4																	80246828		2177	4289	6466	SO:0001819	synonymous_variant	0				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.204G>A	4.37:g.80246828C>T			Q66K19|Q6P479	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.P68	ENST00000286794.4	37	c.204	CCDS47084.1	4																																																																																			NAA11	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000156269		0.582	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	-	0	22	0	C			80246828	-1	tier1	-	no_errors	ENST00000286794	ensembl	human	known	74_37	silent	40.00	21	14	SNP	0.615	T	T	80246828	C	T	80246828	2	4	26	1	0	0	0	0	0	0	0	1	10155	755	27	1		1	NAA11	4	80246828	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	9045288	80246828	110907448	74	6626											
DSPP	1834	genome.wustl.edu	37	chr4	88534007	88534007	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcaacagcaagagaaatggGactaaggaagctgaggtaac	18	5	12	6	0	1	2	1	1	0	1	1	5	1	4	0	3	4	3	0	3	6	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:88534007G>A	ENST00000282478.7	+	3	702	c.669G>A	c.(667-669)ggG>ggA	p.G223G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.G223G			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	223					biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGAGAAATGGGACTAAGGAAG	0.443																																																	0													99	103	102					4																	88534007		2002	4174	6176	SO:0001819	synonymous_variant	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.669G>A	4.37:g.88534007G>A			A8MUI0|O95815	Silent	SNP	NULL	p.G223	ENST00000282478.7	37	c.669	CCDS43248.1	4																																																																																			DSPP	-	NULL	ENSG00000152591		0.443	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	-	0	46	0	G	NM_014208		88534007	1	tier1	-	no_errors	ENST00000282478	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.000	A	A	88534007	G	A	88534007	2	1	26	1	0	0	0	0	0	0	0	1	4796	1161	41	3		3	DSPP	4	88534007	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	8287179	88534007	102620269	75	6627											
SEC24D	9871	genome.wustl.edu	37	chr4	119649764	119649764	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataatacccattatcattctGagttgttgagagtatgggtt	11	16	9	5	0	2	2	1	2	1	1	2	3	2	2	1	1	1	4	1	1	4	8			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:119649764G>C	ENST00000280551.6	-	22	3148	c.2910C>G	c.(2908-2910)ctC>ctG	p.L970L	SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000511481.1_Silent_p.L601L|SEC24D_ENST00000379735.5_Silent_p.L971L			O94855	SC24D_HUMAN	SEC24 family member D	970					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TTATCATTCTGAGTTGTTGAG	0.299																																																	0													145	140	141					4																	119649764		2203	4298	6501	SO:0001819	synonymous_variant	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2910C>G	4.37:g.119649764G>C			Q8IYI7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.L971	ENST00000280551.6	37	c.2913	CCDS3710.1	4																																																																																			SEC24D	-	pfam_Gelsolin_dom	ENSG00000150961		0.299	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	-	0	32	0	G			119649764	-1	tier1	-	no_errors	ENST00000379735	ensembl	human	known	74_37	silent	20.93	34	9	SNP	1.000	C	C	119649764	G	C	119649764	2	2	26	1	0	0	0	0	0	0	0	1	14042	1277	45	5		5	SEC24D	4	119649764	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	31115757	119649764	71504512	76	6628											
POU4F2	5458	genome.wustl.edu	37	chr4	147561864	147561864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgaaaagatcgccgccatCgcggagaagctggacctgaa	12	6	12	11	4	1	4	0	2	1	2	3	6	1	5	3	2	1	1	3	2	4	0	rs572053159		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:147561864C>T	ENST00000281321.3	+	2	1382	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	378					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TCGCCGCCATCGCGGAGAAGC	0.552																																																	0													50	56	54					4																	147561864		2203	4300	6503	SO:0001819	synonymous_variant	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1134C>T	4.37:g.147561864C>T			B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.I378	ENST00000281321.3	37	c.1134	CCDS34074.1	4																																																																																			POU4F2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000151615		0.552	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	-	0	27	0	C	NM_004575		147561864	1	tier1	-	no_errors	ENST00000281321	ensembl	human	known	74_37	silent	15.79	32	6	SNP	1.000	T	T	147561864	C	T	147561864	2	4	26	1	0	0	0	0	0	0	0	1	12318	874	31	1		1	POU4F2	4	147561864	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	27912100	147561864	43592412	77	6629											
FHDC1	85462	genome.wustl.edu	37	chr4	153896730	153896730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgggtagcagcgaccctGagaacaaagatcctagacct	12	7	11	11	1	0	3	0	1	0	3	1	5	1	3	3	1	3	2	3	1	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr4:153896730G>A	ENST00000511601.1	+	12	2475	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E763K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	763									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CAGCGACCCTGAGAACAAAGA	0.612																																																	0													58	59	58					4																	153896730		2203	4300	6503	SO:0001583	missense	0			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2287G>A	4.37:g.153896730G>A	ENSP00000427567:p.Glu763Lys			Missense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin	p.E763K	ENST00000511601.1	37	c.2287	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437102	0.43224	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.33865	1.39;1.39	5.47	5.47	0.80525	.	0.472673	0.21336	N	0.076213	T	0.36936	0.0985	L	0.29908	0.895	0.27999	N	0.935348	D	0.53151	0.958	P	0.49502	0.613	T	0.21381	-1.0247	10	0.15066	T	0.55	.	19.3415	0.94344	0.0:0.0:1.0:0.0	.	763	Q9C0D6	FHDC1_HUMAN	K	763	ENSP00000427567:E763K;ENSP00000260008:E763K	ENSP00000260008:E763K	E	+	1	0	FHDC1	154116180	0.998000	0.40836	0.114000	0.21550	0.216000	0.24613	4.314000	0.59166	2.561000	0.86390	0.563000	0.77884	GAG	FHDC1	-	NULL	ENSG00000137460		0.612	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2		0	42	0	G	NM_033393		153896730	1			no_errors	ENST00000260008	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.531	A	A	153896730	G	A	153896730	3	1	26	1	0	0	0	0	1	0	0	0	5898	1291	45	3	2329	3	FHDC1	4	153896730	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	6334866	153896730	37257546	78	6630											
KIAA0947	23379	genome.wustl.edu	37	chr5	5464326	5464326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgagtaaaatacggcaaGaggtggggcctcctttgccg	10	8	13	10	2	0	2	0	1	0	1	1	2	1	2	3	4	2	2	3	4	4	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:5464326G>C	ENST00000296564.7	+	13	5101	c.4879G>C	c.(4879-4881)Gag>Cag	p.E1627Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1627					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AATACGGCAAGAGGTGGGGCC	0.473																																																	0													85	91	89					5																	5464326		1976	4159	6135	SO:0001583	missense	0																														ENST00000296564.7:c.4879G>C	5.37:g.5464326G>C	ENSP00000296564:p.Glu1627Gln		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1627Q	ENST00000296564.7	37	c.4879	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694426	0.88830	.	.	ENSG00000164151	ENST00000296564	T	0.19669	2.13	5.27	5.27	0.74061	.	.	.	.	.	T	0.44244	0.1284	L	0.56769	1.78	0.49798	D	0.999824	D	0.89917	1.0	D	0.87578	0.998	T	0.35351	-0.9792	9	0.87932	D	0	-14.0979	16.3759	0.83392	0.0:0.0:1.0:0.0	.	1627	Q9Y2F5	K0947_HUMAN	Q	1627	ENSP00000296564:E1627Q	ENSP00000296564:E1627Q	E	+	1	0	KIAA0947	5517326	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	7.081000	0.76844	2.453000	0.82957	0.460000	0.39030	GAG	KIAA0947	-	NULL	ENSG00000164151		0.473	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	23	0	G			5464326	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	33.33	22	11	SNP	1.000	C	C	5464326	G	C	5464326	3	2	26	1	0	0	0	0	1	0	0	0	8229	943	33	5	4929	5	KIAA0947	5	5464326	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		5464326	175450934	79	6631											
KIAA0947	23379	genome.wustl.edu	37	chr5	5465301	5465301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccgtaatgagagatcaaGagaaggaagttgtttatgaa	16	9	12	4	1	1	4	1	2	0	2	1	7	1	5	1	1	1	3	1	1	6	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:5465301G>C	ENST00000296564.7	+	13	6076	c.5854G>C	c.(5854-5856)Gag>Cag	p.E1952Q		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1952					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGAGATCAAGAGAAGGAAGT	0.378																																																	0													64	56	58					5																	5465301		1851	4099	5950	SO:0001583	missense	0																														ENST00000296564.7:c.5854G>C	5.37:g.5465301G>C	ENSP00000296564:p.Glu1952Gln		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E1952Q	ENST00000296564.7	37	c.5854	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900988	0.92035	.	.	ENSG00000164151	ENST00000296564	T	0.34859	1.34	5.76	5.76	0.90799	.	.	.	.	.	T	0.58466	0.2124	L	0.59436	1.845	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.58736	-0.7584	9	0.87932	D	0	-14.1794	17.4637	0.87626	0.0:0.0:1.0:0.0	.	1952	Q9Y2F5	K0947_HUMAN	Q	1952	ENSP00000296564:E1952Q	ENSP00000296564:E1952Q	E	+	1	0	KIAA0947	5518301	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	8.932000	0.92897	2.730000	0.93505	0.591000	0.81541	GAG	KIAA0947	-	NULL	ENSG00000164151		0.378	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	18	0	G			5465301	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C	C	5465301	G	C	5465301	3	2	26	1	0	0	0	0	1	0	0	0	8229	943	33	5	5904	5	KIAA0947	5	5465301	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	975	5465301	175449959	80	6632											
PRLR	5618	genome.wustl.edu	37	chr5	35068920	35068920	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccagacaataatcaaaCagatgacagcagaaaggaca	19	4	8	10	0	1	4	1	1	0	3	1	5	1	5	1	1	3	1	1	1	4	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:35068920C>G	ENST00000382002.5	-	8	1172	c.746G>C	c.(745-747)tGt>tCt	p.C249S	PRLR_ENST00000310101.5_Missense_Mutation_p.C249S|PRLR_ENST00000542609.1_Missense_Mutation_p.C249S|PRLR_ENST00000509934.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.C148S|PRLR_ENST00000342362.5_Missense_Mutation_p.C148S|PRLR_ENST00000231423.3_Missense_Mutation_p.C249S|PRLR_ENST00000513753.1_Missense_Mutation_p.C249S|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	249					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AATAATCAAACAGATGACAGC	0.418																																																	0													132	119	123					5																	35068920		2203	4300	6503	SO:0001583	missense	0				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.746G>C	5.37:g.35068920C>G	ENSP00000371432:p.Cys249Ser		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.C249S	ENST00000382002.5	37	c.746	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087988	0.55968	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	T;T;T;D;D;D;T	0.89050	-1.11;-1.05;-1.08;-2.46;-1.54;-2.46;-1.08	5.76	4.88	0.63580	.	0.132933	0.64402	D	0.000001	D	0.95389	0.8503	M	0.90145	3.09	0.43771	D	0.996291	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.85130	0.997;0.997;0.964;0.964	D	0.95912	0.8924	10	0.54805	T	0.06	-10.2226	16.4476	0.83942	0.1324:0.8676:0.0:0.0	.	249;148;249;249	P16471;P16471-2;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	S	249;249;249;148;249;148;249	ENSP00000231423:C249S;ENSP00000424841:C249S;ENSP00000441813:C249S;ENSP00000339213:C148S;ENSP00000371432:C249S;ENSP00000422556:C148S;ENSP00000309008:C249S	ENSP00000231423:C249S	C	-	2	0	PRLR	35104677	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	2.730000	0.47335	1.551000	0.49450	0.655000	0.94253	TGT	PRLR	-	NULL	ENSG00000113494		0.418	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	-	0	26	0	C			35068920	-1	tier1	-	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G	G	35068920	C	G	35068920	3	3	26	1	0	0	0	0	1	0	0	0	12573	478	17	5	1134	5	PRLR	5	35068920	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	29603619	35068920	145846340	81	6633											
EGFLAM	133584	genome.wustl.edu	37	chr5	38438418	38438418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatgtgaagcatgacttCacctccggagtgaatgtgga	11	10	11	9	1	1	3	1	3	0	0	3	5	3	5	3	2	1	1	3	2	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:38438418C>T	ENST00000354891.3	+	17	2671	c.2325C>T	c.(2323-2325)ttC>ttT	p.F775F	EGFLAM_ENST00000397202.2_Silent_p.F141F|EGFLAM_ENST00000322350.5_Silent_p.F775F|EGFLAM_ENST00000336740.6_Silent_p.F541F	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	775	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.			F -> L (in Ref. 2; CAH56137). {ECO:0000305}.	extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGCATGACTTCACCTCCGGAG	0.502																																					Colon(62;485 1295 3347 17454)												0													69	72	71					5																	38438418		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2325C>T	5.37:g.38438418C>T			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.F775	ENST00000354891.3	37	c.2325	CCDS56363.1	5																																																																																			EGFLAM	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000164318		0.502	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0	51	0	C	NM_152403		38438418	1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	silent	18.42	93	21	SNP	0.243	T	T	38438418	C	T	38438418	2	4	26	1	0	0	0	0	0	0	0	1	4980	825	29	3		3	EGFLAM	5	38438418	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3369498	38438418	142476842	82	6634											
C7	730	genome.wustl.edu	37	chr5	40947882	40947882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggacacattatctgcaatCtgggtcgttaggaggagaat	11	10	13	7	2	2	1	0	0	2	1	3	4	2	3	0	4	1	2	0	4	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:40947882C>G	ENST00000313164.9	+	8	1276	c.917C>G	c.(916-918)tCt>tGt	p.S306C		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	306	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TATCTGCAATCTGGGTCGTTA	0.413																																																	0													88	84	85					5																	40947882		1832	4083	5915	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.917C>G	5.37:g.40947882C>G	ENSP00000322061:p.Ser306Cys		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S306C	ENST00000313164.9	37	c.917	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912224	0.72983	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.86562	-2.14	5.9	5.9	0.94986	Membrane attack complex component/perforin (MACPF) domain (3);	0.123853	0.56097	D	0.000024	D	0.94118	0.8114	M	0.83012	2.62	0.42024	D	0.990996	D	0.89917	1.0	D	0.87578	0.998	D	0.94377	0.7601	10	0.72032	D	0.01	-29.0708	18.4666	0.90758	0.0:1.0:0.0:0.0	.	306	P10643	CO7_HUMAN	C	306	ENSP00000322061:S306C	ENSP00000322061:S306C	S	+	2	0	C7	40983639	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.454000	0.60068	2.786000	0.95864	0.650000	0.86243	TCT	C7	-	pfam_MACPF,smart_MACPF	ENSG00000112936		0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	-	0	53	0	C			40947882	1	tier1	-	no_errors	ENST00000313164	ensembl	human	known	74_37	missense	12.00	87	12	SNP	1.000	G	G	40947882	C	G	40947882	3	3	26	1	0	0	0	0	1	0	0	0	2382	913	32	5	947	5	C7	5	40947882	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2509464	40947882	139967378	83	6635											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41045946	41045946	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgatcttccataaggattCtttgagcaactgttgtagga	11	14	9	7	0	2	2	0	2	2	0	3	4	3	4	1	2	2	3	1	2	3	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:41045946C>G	ENST00000399564.4	-	18	2188	c.1738G>C	c.(1738-1740)Gaa>Caa	p.E580Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.E135Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	580																	CATAAGGATTCTTTGAGCAAC	0.383																																																	0													189	180	183					5																	41045946		1945	4147	6092	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1738G>C	5.37:g.41045946C>G	ENSP00000382476:p.Glu580Gln		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E580Q	ENST00000399564.4	37	c.1738	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210537	0.58343	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68479	2.96;-0.33	5.51	5.51	0.81932	Armadillo-type fold (1);	0.415062	0.20437	N	0.092360	T	0.77212	0.4097	L	0.51422	1.61	0.39891	D	0.973777	D	0.76494	0.999	D	0.83275	0.996	T	0.75986	-0.3124	10	0.39692	T	0.17	.	14.911	0.70758	0.0:1.0:0.0:0.0	.	580	Q7Z745	HTRB2_HUMAN	Q	135;285;580	ENSP00000441504:E135Q;ENSP00000382476:E580Q	ENSP00000296803:E285Q	E	-	1	0	HEATR7B2	41081703	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.273000	0.43381	2.579000	0.87056	0.585000	0.79938	GAA	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.383	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	66	0	C	NM_173489		41045946	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	23.62	97	30	SNP	1.000	G	G	41045946	C	G	41045946	3	3	26	1	0	0	0	0	1	0	0	0	7062	922	32	5	3119	5	HEATR7B2	5	41045946	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	98064	41045946	139869314	84	6636											
GHR	2690	genome.wustl.edu	37	chr5	42718722	42718722	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctaagcagtgaccatgaGaaatcacatagtaacctagg	15	9	8	9	0	2	2	1	2	1	1	2	3	2	2	2	1	2	2	2	1	5	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:42718722G>A	ENST00000230882.4	+	10	1303	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	GHR_ENST00000357703.3_Silent_p.E349E|GHR_ENST00000537449.1_Silent_p.E184E|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	371					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTGACCATGAGAAATCACATA	0.438																																																	0													150	125	134					5																	42718722		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1113G>A	5.37:g.42718722G>A			Q9HCX2	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E371	ENST00000230882.4	37	c.1113	CCDS3940.1	5																																																																																			GHR	-	NULL	ENSG00000112964		0.438	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	-	0	28	0	G	NM_000163		42718722	1	tier1	-	no_errors	ENST00000230882	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.877	A	A	42718722	G	A	42718722	2	1	26	1	0	0	0	0	0	0	0	1	6397	933	33	3		3	GHR	5	42718722	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1672776	42718722	138196538	85	6637											
PARP8	79668	genome.wustl.edu	37	chr5	49963923	49963923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agatttcagatactctgactCcacctttacttttacctacg	10	15	4	12	1	2	3	1	1	1	2	3	3	3	3	3	0	4	0	3	0	4	7			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:49963923C>G	ENST00000281631.5	+	2	268	c.110C>G	c.(109-111)tCc>tGc	p.S37C	PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S37C|PARP8_ENST00000513738.1_Missense_Mutation_p.S37C|PARP8_ENST00000503750.2_Missense_Mutation_p.S37C|PARP8_ENST00000505697.2_Missense_Mutation_p.S37C|PARP8_ENST00000503665.1_Missense_Mutation_p.S37C|PARP8_ENST00000505554.1_Missense_Mutation_p.S16C|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	37						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TACTCTGACTCCACCTTTACT	0.448																																																	0													155	148	150					5																	49963923		2203	4300	6503	SO:0001583	missense	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.110C>G	5.37:g.49963923C>G	ENSP00000281631:p.Ser37Cys		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S37C	ENST00000281631.5	37	c.110	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639589	0.67244	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000502524;ENST00000515175;ENST00000281631;ENST00000513738;ENST00000503665;ENST00000514067;ENST00000503046;ENST00000505554	.	.	.	5.51	4.62	0.57501	.	0.142264	0.47455	D	0.000238	T	0.43277	0.1240	N	0.08118	0	0.80722	D	1	D;D	0.58268	0.982;0.97	P;P	0.52909	0.713;0.52	T	0.38265	-0.9669	8	.	.	.	-7.9776	14.6267	0.68626	0.1466:0.8534:0.0:0.0	.	37;37	Q8N3A8-2;Q8N3A8	.;PARP8_HUMAN	C	37;37;37;37;37;37;37;37;37;16	.	.	S	+	2	0	PARP8	49999680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.301000	0.72782	1.279000	0.44446	0.655000	0.94253	TCC	PARP8	-	NULL	ENSG00000151883		0.448	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	-	0	229	0	C	NM_024615		49963923	1	tier1	-	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	32.53	253	122	SNP	1.000	G	G	49963923	C	G	49963923	3	3	26	1	0	0	0	0	1	0	0	0	11504	855	30	5	116	5	PARP8	5	49963923	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	7245201	49963923	130951337	86	6638											
IL6ST	3572	genome.wustl.edu	37	chr5	55250687	55250687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcttgttgccagtctgtGatacagggtgctttatctga	6	17	10	8	0	4	2	0	2	4	0	4	2	4	2	1	1	3	2	1	1	2	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:55250687G>C	ENST00000381298.2	-	11	1713	c.1401C>G	c.(1399-1401)atC>atG	p.I467M	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.I467M|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.I467M|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	467	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GCCAGTCTGTGATACAGGGTG	0.393			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													210	201	204					5																	55250687		2203	4300	6503	SO:0001583	missense	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1401C>G	5.37:g.55250687G>C	ENSP00000370698:p.Ile467Met		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I467M	ENST00000381298.2	37	c.1401	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	G	7.456	0.643757	0.14451	.	.	ENSG00000134352	ENST00000381298;ENST00000336909	T;T	0.32023	1.47;1.47	5.79	-0.508	0.11980	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.028080	0.07635	N	0.929266	T	0.29223	0.0727	L	0.59436	1.845	0.09310	N	1	B;B	0.21381	0.055;0.026	B;B	0.24848	0.054;0.056	T	0.36744	-0.9735	10	0.33141	T	0.24	.	7.8442	0.29417	0.3664:0.1014:0.5322:0.0	.	467;467	Q17RA0;P40189	.;IL6RB_HUMAN	M	467	ENSP00000370698:I467M;ENSP00000338799:I467M	ENSP00000338799:I467M	I	-	3	3	IL6ST	55286444	0.000000	0.05858	0.082000	0.20525	0.250000	0.25880	0.024000	0.13555	0.085000	0.17107	-0.218000	0.12543	ATC	IL6ST	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134352		0.393	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	-	0	52	0	G	NM_002184		55250687	-1	tier1	-	no_errors	ENST00000336909	ensembl	human	known	74_37	missense	21.15	41	11	SNP	0.000	C	C	55250687	G	C	55250687	3	2	26	1	0	0	0	0	1	0	0	0	7730	1280	45	5	1383	5	IL6ST	5	55250687	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5286764	55250687	125664573	87	6639											
TNPO1	3842	genome.wustl.edu	37	chr5	72161504	72161504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagatcgtcctctcaacAtcatgattcccaaattttta	11	17	3	10	1	2	2	2	1	1	1	6	2	4	2	2	0	1	0	2	0	4	6	rs113424229		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:72161504A>G	ENST00000337273.5	+	6	970	c.544A>G	c.(544-546)Atc>Gtc	p.I182V	TNPO1_ENST00000506351.2_Missense_Mutation_p.I174V|TNPO1_ENST00000523768.1_Missense_Mutation_p.I132V|TNPO1_ENST00000454282.1_Missense_Mutation_p.I132V|TNPO1_ENST00000447967.2_Intron	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	182					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCCTCTCAACATCATGATTCC	0.353																																																	0													118	116	117					5																	72161504		2202	4300	6502	SO:0001583	missense	0			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"Importins"	6401	protein-coding gene	gene with protein product	"importin 2"	602901	"karyopherin (importin) beta 2"	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.544A>G	5.37:g.72161504A>G	ENSP00000336712:p.Ile182Val		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I182V	ENST00000337273.5	37	c.544	CCDS43329.1	5	.	.	.	.	.	.	.	.	.	.	A	9.524	1.109079	0.20714	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.89	4.89	0.63831	Armadillo-like helical (1);Armadillo-type fold (1);	0.213279	0.49916	D	0.000133	T	0.40040	0.1101	N	0.16066	0.365	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26849	-1.0091	10	0.21014	T	0.42	-10.457	7.657	0.28381	0.8387:0.0:0.1613:0.0	.	132;182	Q92973-3;Q92973	.;TNPO1_HUMAN	V	182;132;132;174	ENSP00000336712:I182V;ENSP00000398524:I132V;ENSP00000428899:I132V;ENSP00000425118:I174V	ENSP00000336712:I182V	I	+	1	0	TNPO1	72197260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.451000	0.44952	1.958000	0.56883	0.528000	0.53228	ATC	TNPO1	-	superfamily_ARM-type_fold	ENSG00000083312		0.353	TNPO1-001	KNOWN	basic|CCDS	protein_coding	TNPO1	HGNC	protein_coding	OTTHUMT00000218577.3	-	0	32	0	A	NM_002270		72161504	1	tier1	rs113424229	no_errors	ENST00000337273	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	G	G	72161504	A	G	72161504	3	3	26	1	0	0	0	0	1	0	0	0	16382	217	8	4	566	4	TNPO1	5	72161504	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	16910817	72161504	108753756	88	6640											
PJA2	9867	genome.wustl.edu	37	chr5	108714941	108714941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taaagaagaatcaacttgatCcaaaggactggaaccttcat	17	9	7	8	0	2	3	2	1	0	2	3	5	3	5	2	2	2	0	2	2	7	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:108714941C>T	ENST00000361189.2	-	4	486	c.247G>A	c.(247-249)Gat>Aat	p.D83N	PJA2_ENST00000361557.3_Missense_Mutation_p.D83N|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	83					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCAACTTGATCCAAAGGACTG	0.308																																																	0													35	37	36					5																	108714941		2202	4300	6502	SO:0001583	missense	0			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.247G>A	5.37:g.108714941C>T	ENSP00000354775:p.Asp83Asn		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D83N	ENST00000361189.2	37	c.247	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526506	0.64860	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.11821	2.74;2.74	6.16	6.16	0.99307	.	0.320106	0.30879	N	0.008697	T	0.11965	0.0291	L	0.43152	1.355	0.41541	D	0.988514	B	0.30824	0.296	B	0.19946	0.027	T	0.06844	-1.0804	10	0.05833	T	0.94	-30.9137	19.0404	0.92997	0.0:1.0:0.0:0.0	.	83	O43164	PJA2_HUMAN	N	83	ENSP00000354775:D83N;ENSP00000355284:D83N	ENSP00000354775:D83N	D	-	1	0	PJA2	108742840	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.433000	0.44793	2.937000	0.99478	0.650000	0.86243	GAT	PJA2	-	NULL	ENSG00000198961		0.308	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	-	0	30	0	C	NM_014819		108714941	-1	tier1	-	no_errors	ENST00000361189	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	T	T	108714941	C	T	108714941	3	4	26	1	0	0	0	0	1	0	0	0	12001	855	30	3	1907	3	PJA2	5	108714941	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	36553437	108714941	72200319	89	6641											
AQPEP	206338	genome.wustl.edu	37	chr5	115298659	115298659	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagctgtggccgcagctGaggcccgacgagcttccggc	5	6	16	14	4	0	1	0	1	0	0	1	4	1	2	3	4	3	4	3	4	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:115298659G>C	ENST00000357872.4	+	1	469	c.345G>C	c.(343-345)ctG>ctC	p.L115L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		115						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GGCCGCAGCTGAGGCCCGACG	0.701																																																	0													40	46	44					5																	115298659		2202	4298	6500	SO:0001819	synonymous_variant	0																														ENST00000357872.4:c.345G>C	5.37:g.115298659G>C			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L115	ENST00000357872.4	37	c.345	CCDS4124.1	5																																																																																			AQPEP	-	pfam_Peptidase_M1_N	ENSG00000172901		0.701	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1		0	16	0	G			115298659	1			no_errors	ENST00000357872	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.858	C	C	115298659	G	C	115298659	2	2	26	1	0	0	0	0	0	0	0	1	834	1277	45	5		5	AQPEP	5	115298659	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	6583718	115298659	65616601	90	6642											
PRRC1	133619	genome.wustl.edu	37	chr5	126866085	126866085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctggcatggctccctatAtcagtatgtacataagttag	11	12	8	10	0	1	0	1	0	0	0	2	0	2	0	2	2	1	5	2	2	6	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:126866085A>G	ENST00000296666.8	+	5	942	c.754A>G	c.(754-756)Atc>Gtc	p.I252V	PRRC1_ENST00000512635.2_Missense_Mutation_p.I252V|PRRC1_ENST00000442138.2_Missense_Mutation_p.I252V	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	252						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GGCTCCCTATATCAGTATGTA	0.423																																																	0													81	78	79					5																	126866085		2203	4300	6503	SO:0001583	missense	0			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.754A>G	5.37:g.126866085A>G	ENSP00000296666:p.Ile252Val		Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	pfam_NTPase/PRRC1	p.I252V	ENST00000296666.8	37	c.754	CCDS4143.1	5	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268886	0.80469	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	5.16	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.69823	2.125	0.80722	D	1	D;D	0.60575	0.972;0.988	P;P	0.56163	0.755;0.793	T	0.70077	-0.4971	9	0.72032	D	0.01	-19.2963	10.7584	0.46251	0.8578:0.0:0.0:0.1422	.	252;252	Q96M27;Q96M27-5	PRRC1_HUMAN;.	V	252	.	ENSP00000296666:I252V	I	+	1	0	PRRC1	126893984	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	9.072000	0.93986	0.967000	0.38186	0.533000	0.62120	ATC	PRRC1	-	NULL	ENSG00000164244		0.423	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC1	HGNC	protein_coding	OTTHUMT00000250971.3	-	0	33	0	A	NM_130809		126866085	1	tier1	-	no_errors	ENST00000512635	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	G	G	126866085	A	G	126866085	3	3	26	1	0	0	0	0	1	0	0	0	12646	449	16	4	768	4	PRRC1	5	126866085	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	11567426	126866085	54049175	91	6643											
CHSY3	337876	genome.wustl.edu	37	chr5	129520357	129520357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgatggagatgatcaatGagaatgccaagagcagagga	16	6	15	4	0	1	6	1	3	0	4	1	9	1	7	1	3	2	1	1	3	3	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:129520357G>C	ENST00000305031.4	+	3	1880	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	508					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATGATCAATGAGAATGCCAA	0.488																																																	0													67	64	65					5																	129520357		2203	4300	6503	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1522G>C	5.37:g.129520357G>C	ENSP00000302629:p.Glu508Gln		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.E508Q	ENST00000305031.4	37	c.1522	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517454	0.44763	.	.	ENSG00000198108	ENST00000305031	T	0.15718	2.4	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000014	T	0.25827	0.0629	L	0.53249	1.67	0.58432	D	0.999996	P	0.48230	0.907	P	0.48063	0.565	T	0.01301	-1.1391	9	.	.	.	-7.7253	18.2607	0.90034	0.0:0.0:1.0:0.0	.	508	Q70JA7	CHSS3_HUMAN	Q	508	ENSP00000302629:E508Q	.	E	+	1	0	CHSY3	129548256	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	7.726000	0.84824	2.708000	0.92522	0.650000	0.86243	GAG	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.488	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	-	0	25	0	G	NM_175856		129520357	1	tier1	-	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	C	C	129520357	G	C	129520357	3	2	26	1	0	0	0	0	1	0	0	0	3420	1291	45	5	1532	5	CHSY3	5	129520357	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2654272	129520357	51394903	92	6644											
SLC22A4	6583	genome.wustl.edu	37	chr5	131657980	131657980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccactgtttgcttacttCatcagagactggcggatgct	7	13	10	11	1	2	1	2	0	0	1	2	3	2	2	1	2	4	3	1	2	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:131657980C>T	ENST00000200652.3	+	4	930	c.756C>T	c.(754-756)ttC>ttT	p.F252F	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	252					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	TTGCTTACTTCATCAGAGACT	0.522																																																	0													150	136	141					5																	131657980		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"Solute carriers"	10968	protein-coding gene	gene with protein product		604190	"solute carrier family 22 (organic cation/ergothioneine transporter), member 4"			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.756C>T	5.37:g.131657980C>T			O14546	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.F252	ENST00000200652.3	37	c.756	CCDS4153.1	5																																																																																			SLC22A4	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197208		0.522	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	-	0	132	0	C	NM_003059		131657980	1	tier1	-	no_errors	ENST00000200652	ensembl	human	known	74_37	silent	23.03	126	38	SNP	1.000	T	T	131657980	C	T	131657980	2	4	26	1	0	0	0	0	0	0	0	1	14501	825	29	3		3	SLC22A4	5	131657980	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2137623	131657980	49257280	93	6645											
CATSPER3	347732	genome.wustl.edu	37	chr5	134343646	134343646	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtgtccctgccttgcaGacgctgatcaccgccgtggg	6	8	12	15	3	1	2	1	1	0	1	2	2	2	2	4	1	2	2	4	1	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:134343646G>A	ENST00000282611.6	+	4	578		c.e4-1			NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3						calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTGCCTTGCAGACGCTGATCA	0.607																																																	0													162	118	133					5																	134343646		2203	4300	6503	SO:0001630	splice_region_variant	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.493-1G>A	5.37:g.134343646G>A			Q86XS6	Splice_Site	SNP	-	e4-1	ENST00000282611.6	37	c.493-1	CCDS4181.1	5	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258735	0.23051	.	.	ENSG00000152705	ENST00000282611	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8081	0.69974	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CATSPER3	134371545	1.000000	0.71417	0.992000	0.48379	0.037000	0.13140	5.849000	0.69465	2.395000	0.81488	0.462000	0.41574	.	CATSPER3	-	-	ENSG00000152705		0.607	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	-	0	49	0	G	NM_178019	Intron	134343646	1	tier1	-	no_errors	ENST00000282611	ensembl	human	known	74_37	splice_site	25.81	46	16	SNP	0.999	A	A	134343646	G	A	134343646	5	1	26	1	0	0	0	0	0	0	1	0	2696	956	33	3	506	3	CATSPER3	5	134343646	Splice_Site	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2685666	134343646	46571614	94	6646											
KDM3B	51780	genome.wustl.edu	37	chr5	137761139	137761139	+	Missense_Mutation	SNP	G	G	C																															tacataaaaagctcaagtctGagctctggaagccagaagcc																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:137761139G>C	ENST00000314358.5	+	17	4479	c.4279G>C	c.(4279-4281)Gag>Cag	p.E1427Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.E1083Q|KDM3B_ENST00000542866.1_Missense_Mutation_p.E459Q	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1427					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCTCAAGTCTGAGCTCTGGAA	0.463																																																	0													83	83	83					5																	137761139		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4279G>C	5.37:g.137761139G>C	ENSP00000326563:p.Glu1427Gln		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E1427Q	ENST00000314358.5	37	c.4279	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985908	0.74589	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70631	-0.5;-0.5;-0.5	5.17	5.17	0.71159	.	0.265469	0.42420	D	0.000703	T	0.74527	0.3728	L	0.36672	1.1	0.47949	D	0.999552	D;D	0.54964	0.969;0.958	P;P	0.55824	0.785;0.601	T	0.74487	-0.3649	10	0.41790	T	0.15	-9.655	18.6718	0.91514	0.0:0.0:1.0:0.0	.	1083;1427	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	Q	1427;1217;1083;459	ENSP00000326563:E1427Q;ENSP00000378335:E1083Q;ENSP00000439462:E459Q	ENSP00000326563:E1427Q	E	+	1	0	KDM3B	137789038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.532000	0.67154	2.403000	0.81681	0.563000	0.77884	GAG	KDM3B	-	NULL	ENSG00000120733		0.463	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	84	0	G	NM_016604		137761139	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	26.80	71	26	SNP	1.000	C	C	137761139	G	C	137761139	3	2	26	1	0	0	0	0	1	0	0	0	8154	1291	45	5	4345	5	KDM3B	5	137761139	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3417493	137761139	43154121	95	6647	24	2									
KDM3B	51780	genome.wustl.edu	37	chr5	137761147	137761147	+	Nonsense_Mutation	SNP	G	G	A																															aagctcaagtctgagctctgGaagccagaagcctttagcca																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:137761147G>A	ENST00000314358.5	+	17	4487	c.4287G>A	c.(4285-4287)tgG>tgA	p.W1429*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.W1085*|KDM3B_ENST00000542866.1_Nonsense_Mutation_p.W461*	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1429					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGAGCTCTGGAAGCCAGAAG	0.453																																																	0													89	89	89					5																	137761147		2203	4300	6503	SO:0001587	stop_gained	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4287G>A	5.37:g.137761147G>A	ENSP00000326563:p.Trp1429*		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.W1429*	ENST00000314358.5	37	c.4287	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.055674	0.98632	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2063	18.6718	0.91514	0.0:0.0:1.0:0.0	.	.	.	.	X	1429;1219;1085;461	.	ENSP00000326563:W1429X	W	+	3	0	KDM3B	137789046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.403000	0.81681	0.563000	0.77884	TGG	KDM3B	-	NULL	ENSG00000120733		0.453	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	88	0	G	NM_016604		137761147	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	nonsense	27.45	74	28	SNP	1.000	A	A	137761147	G	A	137761147	4	1	26	1	0	0	0	0	0	1	0	0	8154	1183	41	3	4353	3	KDM3B	5	137761147	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	8	137761147	43154113	96	6648	24	2									
UBE2D2	7322	genome.wustl.edu	37	chr5	138979986	138979986	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctggcacgggaccctccAgcacagtgttcagcaggtcc	8	7	12	14	1	2	0	1	0	1	0	4	2	4	1	3	3	2	4	3	3	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:138979986A>T	ENST00000398733.3	+	2	680	c.54A>T	c.(52-54)ccA>ccT	p.P18P	UBE2D2_ENST00000511725.1_5'UTR|UBE2D2_ENST00000505548.1_5'UTR|UBE2D2_ENST00000253815.2_5'UTR	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	18					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGGACCCTCCAGCACAGTGTT	0.328																																																	0													84	82	83					5																	138979986		1879	4133	6012	SO:0001819	synonymous_variant	0			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"Ubiquitin-conjugating enzymes E2"	12475	protein-coding gene	gene with protein product		602962	"ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.54A>T	5.37:g.138979986A>T			D3DQC9|P51669|Q3MN78|Q96RP6	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P18	ENST00000398733.3	37	c.54	CCDS43369.1	5																																																																																			UBE2D2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000131508		0.328	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D2	HGNC	protein_coding	OTTHUMT00000372454.3	-	0	38	0	A	NM_181838		138979986	1	tier1	-	no_errors	ENST00000398733	ensembl	human	known	74_37	silent	24.24	25	8	SNP	1.000	T	T	138979986	A	T	138979986	2	4	26	1	0	0	0	0	0	0	0	1	16898	175	7	5		5	UBE2D2	5	138979986	Silent	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	1218839	138979986	41935274	97	6649											
PCDHAC1	56135	genome.wustl.edu	37	chr5	140307392	140307392	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaggtccgcctgaaacgctCttggaggcatacattgaggc	9	9	12	11	2	1	2	0	2	1	0	2	3	2	3	2	4	2	2	2	4	3	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:140307392C>G	ENST00000253807.2	+	1	915	c.915C>G	c.(913-915)ctC>ctG	p.L305L	PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L305L|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAAACGCTCTTGGAGGCAT	0.557																																																	0													144	128	134					5																	140307392		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.915C>G	5.37:g.140307392C>G			Q9Y5F5|Q9Y5I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L305	ENST00000253807.2	37	c.915	CCDS4241.1	5																																																																																			PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.557	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	-	0	31	0	C	NM_018898		140307392	1	tier1	-	no_errors	ENST00000253807	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.001	G	G	140307392	C	G	140307392	2	3	26	1	0	0	0	0	0	0	0	1	11571	900	32	5		5	PCDHAC1	5	140307392	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1327406	140307392	40607868	98	6650											
PCDHB1	29930	genome.wustl.edu	37	chr5	140431922	140431922	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaacccagaagcaattctCaagacgtttcagattgaccc	15	8	6	12	1	2	4	2	1	1	3	3	4	2	4	2	0	2	2	2	0	5	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:140431922C>G	ENST00000306549.3	+	1	944	c.867C>G	c.(865-867)ctC>ctG	p.L289L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCAATTCTCAAGACGTTTC	0.468																																																	0													68	69	68					5																	140431922		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.867C>G	5.37:g.140431922C>G			Q2M257	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L289	ENST00000306549.3	37	c.867	CCDS4243.1	5																																																																																			PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000171815		0.468	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	-	0	35	0	C	NM_013340		140431922	1	tier1	-	no_errors	ENST00000306549	ensembl	human	known	74_37	silent	28.57	30	12	SNP	0.000	G	G	140431922	C	G	140431922	2	3	26	1	0	0	0	0	0	0	0	1	11573	813	29	5		5	PCDHB1	5	140431922	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	124530	140431922	40483338	99	6651											
KCTD16	57528	genome.wustl.edu	37	chr5	143853449	143853449	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagggccctgtccagctGatccaacagtcagagatgcg	12	6	12	11	1	1	3	1	1	0	2	3	4	3	3	3	1	3	1	3	1	3	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:143853449G>C	ENST00000507359.3	+	3	2150	c.1059G>C	c.(1057-1059)ctG>ctC	p.L353L	KCTD16_ENST00000512467.1_Silent_p.L353L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	353					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CTGTCCAGCTGATCCAACAGT	0.552																																																	0													68	69	69					5																	143853449		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1059G>C	5.37:g.143853449G>C			Q9P2M9	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.L353	ENST00000507359.3	37	c.1059	CCDS34260.1	5																																																																																			KCTD16	-	NULL	ENSG00000183775		0.552	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3	-	0	19	0	G	XM_098368		143853449	1	tier1	-	no_errors	ENST00000507359	ensembl	human	known	74_37	silent	17.86	23	5	SNP	1.000	C	C	143853449	G	C	143853449	2	2	26	1	0	0	0	0	0	0	0	1	8130	1277	45	5		5	KCTD16	5	143853449	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3421527	143853449	37061811	100	6652											
MED7	9443	genome.wustl.edu	37	chr5	156565835	156565835	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgaattttctctttgaTgttcattctgtccagtacaa	9	17	6	9	0	3	2	1	2	2	0	5	3	4	2	2	0	1	2	2	0	3	6	rs148324701	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:156565835T>A	ENST00000286317.5	-	2	989	c.608A>T	c.(607-609)cAt>cTt	p.H203L	MED7_ENST00000420343.1_Missense_Mutation_p.H203L	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	203					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTCTTTGATGTTCATTCTG	0.383																																																	0													176	164	168					5																	156565835		2203	4300	6503	SO:0001583	missense	0			AF104251	CCDS4334.1	5q33.3	2008-02-05	2007-07-30	2007-07-30	ENSG00000155868	ENSG00000155868			2378	protein-coding gene	gene with protein product		605045	"cofactor required for Sp1 transcriptional activation, subunit 9, 33kDa"	CRSP9		9989412	Standard	NM_004270		Approved	CRSP33	uc003lwm.4	O43513	OTTHUMG00000130243	ENST00000286317.5:c.608A>T	5.37:g.156565835T>A	ENSP00000286317:p.His203Leu			Missense_Mutation	SNP	pfam_Mediatior_Med7	p.H203L	ENST00000286317.5	37	c.608	CCDS4334.1	5	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697935	0.30142	.	.	ENSG00000155868	ENST00000286317;ENST00000420343	.	.	.	5.81	4.65	0.58169	.	0.226336	0.46145	D	0.000303	T	0.23171	0.0560	N	0.08118	0	0.22066	N	0.999383	B	0.02656	0.0	B	0.01281	0.0	T	0.13710	-1.0499	9	0.29301	T	0.29	-1.4156	11.786	0.52043	0.0:0.0683:0.0:0.9317	.	203	O43513	MED7_HUMAN	L	203	.	ENSP00000286317:H203L	H	-	2	0	MED7	156498413	0.998000	0.40836	0.966000	0.40874	0.943000	0.58893	1.808000	0.38912	1.026000	0.39733	0.533000	0.62120	CAT	MED7	-	NULL	ENSG00000155868		0.383	MED7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED7	HGNC	protein_coding	OTTHUMT00000252567.2	-	0	75	0	T	NM_004270		156565835	-1	tier1	-	no_errors	ENST00000286317	ensembl	human	known	74_37	missense	32.94	57	28	SNP	0.993	A	A	156565835	T	A	156565835	3	1	26	1	0	0	0	0	1	0	0	0	9490	1464	51	5	97	5	MED7	5	156565835	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	12712386	156565835	24349425	101	6653											
GABRG2	2566	genome.wustl.edu	37	chr5	161524723	161524723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaccattaaagtcctccGattgaacagcaacatggtgg	13	8	9	11	1	0	1	0	1	0	0	2	2	2	1	3	2	4	2	3	2	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:161524723G>A	ENST00000361925.4	+	4	627	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	GABRG2_ENST00000356592.3_Missense_Mutation_p.R136Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R136Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R41Q			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	136					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAGTCCTCCGATTGAACAGC	0.383																																																	0													100	100	100					5																	161524723		2203	4300	6503	SO:0001583	missense	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.407G>A	5.37:g.161524723G>A	ENSP00000354651:p.Arg136Gln		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R136Q	ENST00000361925.4	37	c.407	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	g	20.7	4.032537	0.75504	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	5.81	4.92	0.64577	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	N	0.25485	0.75	0.54753	D	0.999989	D;P;P	0.55800	0.973;0.902;0.88	P;B;B	0.51229	0.663;0.441;0.313	T	0.80817	-0.1213	10	0.54805	T	0.06	.	16.5664	0.84599	0.0:0.1306:0.8694:0.0	.	136;136;136	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	Q	136;136;136;41;41	ENSP00000349000:R136Q;ENSP00000410732:R136Q;ENSP00000354651:R136Q;ENSP00000377510:R41Q;ENSP00000430182:R41Q	ENSP00000349000:R136Q	R	+	2	0	GABRG2	161457301	0.964000	0.33143	0.942000	0.38095	0.920000	0.55202	5.438000	0.66550	1.397000	0.46682	0.558000	0.71614	CGA	GABRG2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000113327		0.383	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1		0	38	0	G			161524723	1			no_errors	ENST00000356592	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.997	A	A	161524723	G	A	161524723	3	1	26	1	0	0	0	0	1	0	0	0	6196	1058	37	1	421	1	GABRG2	5	161524723	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4958888	161524723	19390537	102	6654											
DOCK2	1794	genome.wustl.edu	37	chr5	169097556	169097556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaacagggcatttttcCtaagtcatttatccacatca	11	15	4	11	0	2	0	2	0	0	0	5	0	5	0	3	1	1	1	3	1	3	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:169097556C>G	ENST00000256935.8	+	4	259	c.179C>G	c.(178-180)cCt>cGt	p.P60R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	60	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCATTTTTCCTAAGTCATTT	0.353																																																	0													85	82	83					5																	169097556		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.179C>G	5.37:g.169097556C>G	ENSP00000256935:p.Pro60Arg		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.P60R	ENST00000256935.8	37	c.179	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473692	0.84640	.	.	ENSG00000134516	ENST00000256935	T	0.27557	1.66	5.59	5.59	0.84812	Src homology-3 domain (3);Variant SH3 (1);	0.106853	0.64402	D	0.000004	T	0.72574	0.3477	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.83611	0.0134	10	0.87932	D	0	.	19.5905	0.95508	0.0:1.0:0.0:0.0	.	60	Q92608	DOCK2_HUMAN	R	60	ENSP00000256935:P60R	ENSP00000256935:P60R	P	+	2	0	DOCK2	169030134	1.000000	0.71417	0.652000	0.29579	0.982000	0.71751	4.989000	0.63870	2.627000	0.88993	0.563000	0.77884	CCT	DOCK2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000134516		0.353	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	53	0	C	NM_004946		169097556	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	G	G	169097556	C	G	169097556	3	3	26	1	0	0	0	0	1	0	0	0	4701	681	24	5	193	5	DOCK2	5	169097556	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	7572833	169097556	11817704	103	6655											
C5orf41	153222	genome.wustl.edu	37	chr5	172550174	172550174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggacccaacatggggcaGaagcttgaaatcctcattaa	15	7	10	9	0	1	3	1	1	0	2	2	4	2	4	2	3	2	2	2	3	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr5:172550174G>C	ENST00000296953.2	+	8	2092	c.1773G>C	c.(1771-1773)caG>caC	p.Q591H	CREBRF_ENST00000540014.1_Missense_Mutation_p.Q593H	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	591					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACATGGGGCAGAAGCTTGAAA	0.353																																																	0													92	106	101					5																	172550174		2203	4300	6503	SO:0001583	missense	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1773G>C	5.37:g.172550174G>C	ENSP00000296953:p.Gln591His		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.Q593H	ENST00000296953.2	37	c.1779	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753908	0.69648	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.23348	1.91;1.91	5.3	4.43	0.53597	.	0.112837	0.64402	D	0.000009	T	0.24699	0.0599	N	0.19112	0.55	0.52501	D	0.999955	D	0.60160	0.987	P	0.52217	0.693	T	0.02326	-1.1176	10	0.46703	T	0.11	.	11.3201	0.49417	0.1519:0.0:0.8481:0.0	.	591	Q8IUR6	CE041_HUMAN	H	591;593;591;591	ENSP00000296953:Q591H;ENSP00000440075:Q593H	ENSP00000296953:Q591H	Q	+	3	2	C5orf41	172482780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.818000	0.39012	1.378000	0.46305	0.655000	0.94253	CAG	CREBRF	-	NULL	ENSG00000164463		0.353	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	-	0	23	0	G	NM_153607		172550174	1	tier1	-	no_errors	ENST00000540014	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C	C	172550174	G	C	172550174	3	2	26	1	0	0	0	0	1	0	0	0	2307	933	33	5	1831	5	C5orf41	5	172550174	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3452618	172550174	8365086	104	6656											
GCM2	9247	genome.wustl.edu	37	chr6	10876178	10876178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaagaggccatttgtctCttgatggcgcttcttctagc	8	14	10	9	1	3	3	0	1	3	2	4	3	3	3	1	2	1	1	1	2	3	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:10876178C>T	ENST00000379491.4	-	4	675	c.528G>A	c.(526-528)aaG>aaA	p.K176K	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	176					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CCATTTGTCTCTTGATGGCGC	0.453																																																	0													216	179	191					6																	10876178		2203	4300	6503	SO:0001819	synonymous_variant	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.528G>A	6.37:g.10876178C>T			D3GDV6|Q5THN5	Silent	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.K176	ENST00000379491.4	37	c.528	CCDS4517.1	6																																																																																			GCM2	-	superfamily_Tscrpt_reg_GCM_motif	ENSG00000124827		0.453	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	-	0	64	0	C			10876178	-1	tier1	-	no_errors	ENST00000379491	ensembl	human	known	74_37	silent	37.50	45	27	SNP	1.000	T	T	10876178	C	T	10876178	2	4	26	1	0	0	0	0	0	0	0	1	6323	912	32	3		3	GCM2	6	10876178	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09		10876178	160238889	105	6657											
LRRC16A	55604	genome.wustl.edu	37	chr6	25495435	25495435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaaactgtctcctgaGcccttaaagtgagtggttaa	12	10	10	9	0	1	2	0	2	1	0	2	2	1	2	2	2	2	2	2	2	5	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:25495435G>T	ENST00000329474.6	+	16	1685	c.1317G>T	c.(1315-1317)gaG>gaT	p.E439D		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	439					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGTCTCCTGAGCCCTTAAAGT	0.378																																																	0													98	91	93					6																	25495435		1835	4080	5915	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1317G>T	6.37:g.25495435G>T	ENSP00000331983:p.Glu439Asp		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E439D	ENST00000329474.6	37	c.1317	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	G	14.08	2.427380	0.43122	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.54866	0.55	5.4	4.47	0.54385	.	0.043988	0.85682	D	0.000000	T	0.20536	0.0494	L	0.35593	1.075	0.80722	D	1	B;B;B	0.28933	0.088;0.146;0.228	B;B;B	0.27262	0.036;0.036;0.078	T	0.07158	-1.0787	10	0.19590	T	0.45	.	6.8614	0.24069	0.1482:0.1503:0.7014:0.0	.	439;439;439	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	D	439	ENSP00000331983:E439D	ENSP00000331983:E439D	E	+	3	2	LRRC16A	25603414	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.026000	0.57232	2.695000	0.91970	0.561000	0.74099	GAG	LRRC16A	-	NULL	ENSG00000079691		0.378	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0	31	0	G	NM_017640		25495435	1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	23.68	29	9	SNP	1.000	T	T	25495435	G	T	25495435	3	4	26	1	0	0	0	0	1	0	0	0	9006	962	34	3	1379	3	LRRC16A	6	25495435	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	14619257	25495435	145619632	106	6658											
HIST1H3E	8353	genome.wustl.edu	37	chr6	26225602	26225602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttcagcgcctggtgcgaGaaatagctcaggacttcaag	10	9	12	10	3	3	1	3	0	0	1	3	3	3	2	1	2	3	2	1	2	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:26225602G>C	ENST00000360408.1	+	1	220	c.220G>C	c.(220-222)Gaa>Caa	p.E74Q		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CCTGGTGCGAGAAATAGCTCA	0.617																																																	0													66	65	65					6																	26225602		2203	4300	6503	SO:0001583	missense	0			M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.220G>C	6.37:g.26225602G>C	ENSP00000353581:p.Glu74Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E74Q	ENST00000360408.1	37	c.220	CCDS4596.1	6	.	.	.	.	.	.	.	.	.	.	.	15.56	2.869228	0.51588	.	.	ENSG00000196966	ENST00000360408	T	0.52295	0.67	4.45	4.45	0.53987	.	.	.	.	.	T	0.58694	0.2140	.	.	.	0.41685	D	0.989312	.	.	.	.	.	.	T	0.64748	-0.6334	6	0.87932	D	0	.	16.6039	0.84823	0.0:0.0:1.0:0.0	.	.	.	.	Q	74	ENSP00000353581:E74Q	ENSP00000353581:E74Q	E	+	1	0	HIST1H3E	26333581	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	9.458000	0.97634	2.494000	0.84150	0.491000	0.48974	GAA	HIST1H3E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000196966		0.617	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3E	HGNC	protein_coding	OTTHUMT00000040097.1	-	0	106	0	G	NM_003532		26225602	1	tier1	-	no_errors	ENST00000360408	ensembl	human	known	74_37	missense	15.00	119	21	SNP	1.000	C	C	26225602	G	C	26225602	3	2	26	1	0	0	0	0	1	0	0	0	7186	943	33	5	222	5	HIST1H3E	6	26225602	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	730167	26225602	144889465	107	6659											
OR11A1	26531	genome.wustl.edu	37	chr6	29394838	29394838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagttgtcacctgagccactCtgggatccgagcaagccagg	9	7	13	12	1	2	1	1	1	1	0	3	4	3	2	4	2	3	2	4	2	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:29394838C>T	ENST00000377149.1	-	5	1053	c.581G>A	c.(580-582)aGa>aAa	p.R194K	OR11A1_ENST00000377147.2_Missense_Mutation_p.R194K|OR11A1_ENST00000377148.1_Missense_Mutation_p.R194K|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CTGAGCCACTCTGGGATCCGA	0.522																																																	0													50	49	50					6																	29394838		1509	2707	4216	SO:0001583	missense	0				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.581G>A	6.37:g.29394838C>T	ENSP00000366354:p.Arg194Lys		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R194K	ENST00000377149.1	37	c.581	CCDS34363.1	6	.	.	.	.	.	.	.	.	.	.	C	7.243	0.601574	0.13939	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00044	8.83;8.83;8.83	3.81	0.496	0.16896	GPCR, rhodopsin-like superfamily (1);	6.755040	0.00166	N	0.000004	T	0.00039	0.0001	N	0.05510	-0.035	0.09310	N	1	B	0.26708	0.157	B	0.29524	0.103	T	0.23547	-1.0185	10	0.54805	T	0.06	4.7122	2.2613	0.04068	0.2289:0.3695:0.0:0.4015	.	194	Q9GZK7	O11A1_HUMAN	K	194	ENSP00000366353:R194K;ENSP00000366354:R194K;ENSP00000366352:R194K	ENSP00000366352:R194K	R	-	2	0	OR11A1	29502817	0.000000	0.05858	0.494000	0.27515	0.273000	0.26683	-2.121000	0.01322	0.221000	0.20879	0.411000	0.27672	AGA	OR11A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204694		0.522	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	HGNC	protein_coding	OTTHUMT00000193778.1	-	0	27	0	C			29394838	-1	tier1	-	no_errors	ENST00000377147	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.002	T	T	29394838	C	T	29394838	3	4	26	1	0	0	0	0	1	0	0	0	10963	913	32	3	370	3	OR11A1	6	29394838	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3169236	29394838	141720229	108	6660											
TRIM10	10107	genome.wustl.edu	37	chr6	30128405	30128405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctcaatgttctccaccacGttagccagctgccagttggg	7	10	10	14	2	2	0	1	0	1	0	3	0	2	0	4	1	3	5	4	1	2	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:30128405G>A	ENST00000449742.2	-	1	306	c.231C>T	c.(229-231)aaC>aaT	p.N77N	TRIM10_ENST00000376704.3_Silent_p.N77N|TRIM15_ENST00000376694.4_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	77					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.N77K(1)		ovary(1)	1						TCTCCACCACGTTAGCCAGCT	0.582																																																	1	Substitution - Missense(1)	lung(1)											149	152	151					6																	30128405		2203	4300	6503	SO:0001819	synonymous_variant	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.231C>T	6.37:g.30128405G>A			A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.N77	ENST00000449742.2	37	c.231	CCDS34375.1	6																																																																																			TRIM10	-	NULL	ENSG00000204613		0.582	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	-	0	69	0	G			30128405	-1	tier1	-	no_errors	ENST00000449742	ensembl	human	known	74_37	silent	9.18	89	9	SNP	0.077	A	A	30128405	G	A	30128405	2	1	26	1	0	0	0	0	0	0	0	1	16534	1136	40	1		1	TRIM10	6	30128405	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	733567	30128405	140986662	109	6661											
EHMT2	10919	genome.wustl.edu	37	chr6	31847870	31847870	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtccgttctcatgtgttGacagggggcagggagccgag	6	9	18	8	2	1	1	1	1	1	0	3	3	2	2	2	4	1	3	2	4	0	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:31847870G>C	ENST00000375537.4	-	28	3630	c.3624C>G	c.(3622-3624)gtC>gtG	p.V1208V	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.V1174V|EHMT2_ENST00000375528.4_Silent_p.V1231V|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000465707.1_5'Flank|SLC44A4_ENST00000229729.6_5'Flank|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000395728.3_Silent_p.V1265V	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1208					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTCATGTGTTGACAGGGGGCA	0.677																																																	0													40	44	42					6																	31847870		1511	2708	4219	SO:0001819	synonymous_variant	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3624C>G	6.37:g.31847870G>C			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.V1265	ENST00000375537.4	37	c.3795	CCDS4725.1	6																																																																																			EHMT2	-	NULL	ENSG00000204371		0.677	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	-	0	114	0	G	NM_006709		31847870	-1	tier1	-	no_errors	ENST00000395728	ensembl	human	known	74_37	silent	28.72	67	27	SNP	0.459	C	C	31847870	G	C	31847870	2	2	26	1	0	0	0	0	0	0	0	1	4998	1277	45	5		5	EHMT2	6	31847870	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1719465	31847870	139267197	110	6662											
TNXB	7148	genome.wustl.edu	37	chr6	32023938	32023938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttccgtggggctgggggtCtcttcctctgcagctgagaa	5	11	15	10	1	2	1	0	1	2	1	5	2	4	1	2	4	2	4	2	4	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:32023938C>G	ENST00000375244.3	-	24	8358	c.8157G>C	c.(8155-8157)gaG>gaC	p.E2719D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2719D			P22105	TENX_HUMAN	tenascin XB	2777	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTGGGGGTCTCTTCCTCTG	0.617																																																	0													32	38	36					6																	32023938		1230	2528	3758	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8157G>C	6.37:g.32023938C>G	ENSP00000364393:p.Glu2719Asp		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E2719D	ENST00000375244.3	37	c.8157		6	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016052	0.54468	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58210	0.56;0.35	3.97	3.09	0.35607	.	.	.	.	.	T	0.28499	0.0705	M	0.74258	2.255	0.24271	N	0.995242	B	0.31705	0.336	B	0.35550	0.205	T	0.30031	-0.9992	9	0.13108	T	0.6	.	6.6291	0.22847	0.1804:0.7216:0.0:0.0981	.	2719	P22105-3	.	D	2719	ENSP00000364393:E2719D;ENSP00000364396:E2719D	ENSP00000364393:E2719D	E	-	3	2	TNXB	32131916	0.339000	0.24784	0.998000	0.56505	0.800000	0.45204	-0.165000	0.09968	0.857000	0.35407	0.456000	0.33151	GAG	TNXB	-	NULL	ENSG00000168477		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	42	0	C	NM_019105		32023938	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	28.95	26	11	SNP	1.000	G	G	32023938	C	G	32023938	3	3	26	1	0	0	0	0	1	0	0	0	16393	912	32	5	6640	5	TNXB	6	32023938	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	176068	32023938	139091129	111	6663											
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713702	32713702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatgggcactcagtcacaGaaggtgtttctgagaccagc	11	8	12	10	0	3	2	2	1	1	2	3	3	3	2	1	2	1	3	1	2	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:32713702G>A	ENST00000374940.3	+	3	568	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	156	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CTCAGTCACAGAAGGTGTTTC	0.498																																																	0													264	238	247					6																	32713702		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.466G>A	6.37:g.32713702G>A	ENSP00000364076:p.Glu156Lys		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.E156K	ENST00000374940.3	37	c.466	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	8.495	0.862985	0.17178	.	.	ENSG00000237541	ENST00000374940	T	0.03065	4.06	3.06	1.18	0.20946	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.417696	0.22510	N	0.059118	T	0.01454	0.0047	L	0.54908	1.71	0.29429	N	0.859987	B	0.09022	0.002	B	0.15052	0.012	T	0.39683	-0.9602	10	0.52906	T	0.07	.	6.7156	0.23302	0.2687:0.0:0.7313:0.0	.	156	P01906	DQA2_HUMAN	K	156	ENSP00000364076:E156K	ENSP00000364076:E156K	E	+	1	0	HLA-DQA2	32821680	0.556000	0.26538	0.973000	0.42090	0.210000	0.24377	2.038000	0.41184	0.591000	0.29711	0.174000	0.16983	GAA	HLA-DQA2	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000237541		0.498	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0	185	0	G	NM_020056		32713702	1	tier1	-	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	16.79	228	46	SNP	0.823	A	A	32713702	G	A	32713702	3	1	26	1	0	0	0	0	1	0	0	0	7232	943	33	3	476	3	HLA-DQA2	6	32713702	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	689764	32713702	138401365	112	6664											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33408515	33408515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccccccagcgtgttcccGagggagctgaaggaggtgtt	6	9	14	12	2	0	1	0	1	0	0	2	4	2	3	4	3	2	3	4	3	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:33408515G>A	ENST00000418600.2	+	11	1787	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P	SYNGAP1_ENST00000293748.5_Silent_p.P562P|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.P503P|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	562	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.		P -> L (in MRD5; the disease phenotype consists of intellectual disability and autism; the mutant protein is less efficient in inhibiting ERK phosphorylation induced by neuronal activity). {ECO:0000269|PubMed:23161826}.		dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GCGTGTTCCCGAGGGAGCTGA	0.627																																																	0													21	21	21					6																	33408515		2202	4299	6501	SO:0001819	synonymous_variant	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.1686G>A	6.37:g.33408515G>A			A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.P562	ENST00000418600.2	37	c.1686	CCDS34434.2	6																																																																																			SYNGAP1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000197283		0.627	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	-	0	44	0	G	XM_166407		33408515	1	tier1	-	no_errors	ENST00000418600	ensembl	human	known	74_37	silent	18.97	47	11	SNP	1.000	A	A	33408515	G	A	33408515	2	1	26	1	0	0	0	0	0	0	0	1	15494	1045	37	1		1	SYNGAP1	6	33408515	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	694813	33408515	137706552	113	6665											
ITPR3	3710	genome.wustl.edu	37	chr6	33653581	33653581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttctgcagctgctgtgtGagaaccacaaccgggacctg	8	9	12	12	1	1	1	0	1	1	1	1	3	1	2	3	1	5	4	3	1	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:33653581G>C	ENST00000374316.5	+	42	6704	c.5644G>C	c.(5644-5646)Gag>Cag	p.E1882Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.E1882Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1882					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCTGCTGTGTGAGAACCACAA	0.652																																																	0													56	53	54					6																	33653581		2203	4300	6503	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5644G>C	6.37:g.33653581G>C	ENSP00000363435:p.Glu1882Gln		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.E1882Q	ENST00000374316.5	37	c.5644	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650920	0.67472	.	.	ENSG00000096433	ENST00000374316	D	0.97529	-4.42	4.69	3.75	0.43078	RyR/IP3R Homology associated domain (1);	0.123543	0.56097	D	0.000037	D	0.98516	0.9505	M	0.92784	3.345	0.80722	D	1	D	0.61080	0.989	D	0.69142	0.962	D	0.99264	1.0891	10	0.87932	D	0	-35.8249	14.2036	0.65721	0.0:0.1503:0.8497:0.0	.	1882	Q14573	ITPR3_HUMAN	Q	1882	ENSP00000363435:E1882Q	ENSP00000363435:E1882Q	E	+	1	0	ITPR3	33761559	1.000000	0.71417	0.993000	0.49108	0.415000	0.31203	7.920000	0.87521	2.157000	0.67596	0.313000	0.20887	GAG	ITPR3	-	pfam_RIH_assoc-dom,superfamily_ARM-type_fold	ENSG00000096433		0.652	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0	11	0	G	NM_002224		33653581	1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	C	C	33653581	G	C	33653581	3	2	26	1	0	0	0	0	1	0	0	0	7949	1291	45	5	5806	5	ITPR3	6	33653581	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	245066	33653581	137461486	114	6666											
C6orf89	221477	genome.wustl.edu	37	chr6	36867365	36867365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctggaaaagaatgaacctCagagaccccccccgcagtat	13	6	9	13	1	1	3	1	1	0	2	1	5	1	4	5	1	2	3	5	1	5	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:36867365C>G	ENST00000480824.2	+	3	439	c.145C>G	c.(145-147)Cag>Gag	p.Q49E	C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000373685.1_Missense_Mutation_p.Q49E|C6orf89_ENST00000355190.3_Missense_Mutation_p.Q56E			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	49					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GAATGAACCTCAGAGACCCCC	0.428																																																	0													65	71	69					6																	36867365		2203	4300	6503	SO:0001583	missense	0			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"bombesin receptor activated protein"					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.145C>G	6.37:g.36867365C>G	ENSP00000475947:p.Gln49Glu		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	NULL	p.Q56E	ENST00000480824.2	37	c.166		6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132703	0.77662	.	.	ENSG00000198663	ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	T;T	0.29142	1.58;1.58	6.08	6.08	0.98989	.	0.067233	0.64402	D	0.000007	T	0.29126	0.0724	L	0.57536	1.79	0.80722	D	1	P;P	0.44429	0.739;0.835	B;B	0.43889	0.291;0.435	T	0.03240	-1.1057	10	0.59425	D	0.04	-8.5836	18.844	0.92196	0.0:1.0:0.0:0.0	.	49;56	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	E	56;49;56;55	ENSP00000347322:Q56E;ENSP00000362789:Q49E	ENSP00000347322:Q56E	Q	+	1	0	C6orf89	36975343	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	3.541000	0.53618	2.894000	0.99253	0.655000	0.94253	CAG	C6orf89	-	NULL	ENSG00000198663		0.428	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2	-	0	28	0	C	NM_152734		36867365	1	tier1	-	no_errors	ENST00000355190	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	G	G	36867365	C	G	36867365	3	3	26	1	0	0	0	0	1	0	0	0	2380	827	29	5	172	5	C6orf89	6	36867365	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3213784	36867365	134247702	115	6667											
PGC	5225	genome.wustl.edu	37	chr6	41710116	41710116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggcctcatccacggacaGagcagggtaggccaggccca	9	4	15	13	1	1	1	1	0	0	1	2	2	2	2	4	6	1	2	4	6	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:41710116G>C	ENST00000373025.3	-	5	621	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	PGC_ENST00000425343.2_Missense_Mutation_p.L187V	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	187					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCCACGGACAGAGCAGGGTAG	0.602																																																	0													132	95	107					6																	41710116		2203	4300	6503	SO:0001583	missense	0				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.559C>G	6.37:g.41710116G>C	ENSP00000362116:p.Leu187Val		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L187V	ENST00000373025.3	37	c.559	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	G	4.323	0.059301	0.08339	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000356667;ENST00000425343	T;T;T	0.60548	1.32;0.36;0.18	4.42	3.5	0.40072	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.339105	0.23834	N	0.044115	T	0.46308	0.1386	M	0.88842	2.985	0.09310	N	1	P	0.36144	0.539	B	0.30105	0.111	T	0.52741	-0.8535	10	0.72032	D	0.01	.	12.1793	0.54204	0.0:0.0:0.67:0.33	.	187	P20142	PEPC_HUMAN	V	187;108;108;187	ENSP00000362116:L187V;ENSP00000349094:L108V;ENSP00000405094:L187V	ENSP00000349094:L108V	L	-	1	2	PGC	41818094	0.091000	0.21658	0.227000	0.23927	0.004000	0.04260	0.304000	0.19228	2.287000	0.76781	0.561000	0.74099	CTG	PGC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000096088		0.602	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	HGNC	protein_coding	OTTHUMT00000040521.2	-	0	35	0	G			41710116	-1	tier1	-	no_errors	ENST00000373025	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.037	C	C	41710116	G	C	41710116	3	2	26	1	0	0	0	0	1	0	0	0	11824	933	33	5	936	5	PGC	6	41710116	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4842751	41710116	129404951	116	6668											
FRS3	10817	genome.wustl.edu	37	chr6	41744689	41744689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggggtggttgtctggaaCgctgtctctgttcaggcagc	4	12	17	8	1	3	0	1	0	2	0	4	1	3	1	0	6	2	4	0	6	1	2	rs367802861		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:41744689C>T	ENST00000373018.3	-	3	288	c.37G>A	c.(37-39)Gtt>Att	p.V13I	FRS3_ENST00000259748.2_Missense_Mutation_p.V13I|FRS3_ENST00000466420.1_5'UTR	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	13	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGTCTGGAACGCTGTCTCTG	0.542																																																	0													186	158	168					6																	41744689		2203	4300	6503	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.37G>A	6.37:g.41744689C>T	ENSP00000362109:p.Val13Ile		Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.V13I	ENST00000373018.3	37	c.37	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	C	8.392	0.839874	0.16891	.	.	ENSG00000137218	ENST00000373018;ENST00000259748;ENST00000426290;ENST00000422888	D;D;D	0.82433	-1.61;-1.61;-1.61	5.95	-0.354	0.12591	Insulin receptor substrate-1, PTB (1);	0.468795	0.23095	N	0.052000	T	0.35566	0.0936	N	0.05306	-0.075	0.29191	N	0.875856	B	0.02656	0.0	B	0.01281	0.0	T	0.30794	-0.9966	10	0.13470	T	0.59	-19.9252	6.1526	0.20320	0.0:0.3843:0.2227:0.393	.	13	O43559	FRS3_HUMAN	I	13;13;37;13	ENSP00000362109:V13I;ENSP00000259748:V13I;ENSP00000396715:V37I	ENSP00000259748:V13I	V	-	1	0	FRS3	41852667	0.000000	0.05858	0.998000	0.56505	0.585000	0.36419	-1.345000	0.02637	0.067000	0.16545	-0.222000	0.12452	GTT	FRS3	-	pfscan_Insln_rcpt_S1	ENSG00000137218		0.542	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	-	0	67	0	C	NM_006653		41744689	-1	tier1	-	no_errors	ENST00000259748	ensembl	human	known	74_37	missense	15.79	64	12	SNP	0.966	T	T	41744689	C	T	41744689	3	4	26	1	0	0	0	0	1	0	0	0	6086	536	19	1	1461	1	FRS3	6	41744689	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	34573	41744689	129370378	117	6669											
CYP39A1	51302	genome.wustl.edu	37	chr6	46607323	46607323	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agttgcccagtaaactgatgGagattgacagtccccatttt	11	12	9	9	0	0	3	0	2	0	1	1	4	1	3	3	1	2	2	3	1	2	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:46607323G>C	ENST00000275016.2	-	3	599	c.396C>G	c.(394-396)ctC>ctG	p.L132L		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	132					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TAAACTGATGGAGATTGACAG	0.368																																																	0													126	116	119					6																	46607323		2203	4300	6503	SO:0001819	synonymous_variant	0			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"Cytochrome P450s"	17449	protein-coding gene	gene with protein product		605994	"cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.396C>G	6.37:g.46607323G>C			Q5VTT0|Q96FW5	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L132	ENST00000275016.2	37	c.396	CCDS4916.1	6																																																																																			CYP39A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000146233		0.368	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP39A1	HGNC	protein_coding	OTTHUMT00000040787.1	-	0	43	0	G			46607323	-1	tier1	-	no_errors	ENST00000275016	ensembl	human	known	74_37	silent	26.19	31	11	SNP	0.000	C	C	46607323	G	C	46607323	2	2	26	1	0	0	0	0	0	0	0	1	4186	1161	41	5		5	CYP39A1	6	46607323	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4862634	46607323	124507744	118	6670											
MCM3	4172	genome.wustl.edu	37	chr6	52132674	52132674	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccttacctcttcctcttCtgctcctggtcctcttggct	2	16	5	18	0	4	0	0	0	4	0	7	0	7	0	6	2	2	2	6	2	1	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:52132674C>G	ENST00000229854.7	-	14	2137	c.2061G>C	c.(2059-2061)caG>caC	p.Q687H	MCM3_ENST00000419835.2_Missense_Mutation_p.Q641H|MCM3_ENST00000596288.1_Missense_Mutation_p.Q732H			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	687					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					tcttcctcttctgctcctggt	0.478																																																	0													303	224	251					6																	52132674		2198	4300	6498	SO:0001583	missense	0			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2061G>C	6.37:g.52132674C>G	ENSP00000229854:p.Gln687His		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3	p.Q732H	ENST00000229854.7	37	c.2196		6	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121513	0.37436	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.48522	0.81;0.81;0.81	4.59	2.75	0.32379	.	1.449860	0.03590	N	0.231671	T	0.19208	0.0461	N	0.22421	0.69	0.26098	N	0.980852	P;B	0.38148	0.62;0.383	B;B	0.40659	0.336;0.116	T	0.18618	-1.0331	10	0.45353	T	0.12	-2.4724	5.6073	0.17387	0.1943:0.7061:0.0:0.0996	.	641;687	B4DUQ9;P25205	.;MCM3_HUMAN	H	687;184;641;182	ENSP00000229854:Q687H;ENSP00000388647:Q641H;ENSP00000407651:Q182H	ENSP00000229854:Q687H	Q	-	3	2	MCM3	52240633	0.995000	0.38212	0.946000	0.38457	0.905000	0.53344	0.913000	0.28611	0.821000	0.34540	0.655000	0.94253	CAG	MCM3	-	NULL	ENSG00000112118		0.478	MCM3-006	KNOWN	basic|appris_principal	protein_coding	MCM3	HGNC	protein_coding	OTTHUMT00000470784.1	-	0	156	0	C			52132674	-1	tier1	-	no_errors	ENST00000596288	ensembl	human	known	74_37	missense	25.40	141	48	SNP	0.963	G	G	52132674	C	G	52132674	3	3	26	1	0	0	0	0	1	0	0	0	9425	912	32	5	381	5	MCM3	6	52132674	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5525351	52132674	118982393	119	6671											
FAM135A	57579	genome.wustl.edu	37	chr6	71236164	71236164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgaactaatggaagaaaGacttacaaaatctgaaaaaa	23	7	7	4	0	1	5	0	2	1	3	1	6	1	6	0	1	2	0	0	1	10	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:71236164G>A	ENST00000418814.2	+	15	3991	c.3377G>A	c.(3376-3378)aGa>aAa	p.R1126K	FAM135A_ENST00000505769.1_Missense_Mutation_p.R706K|FAM135A_ENST00000361499.3_Missense_Mutation_p.R930K|FAM135A_ENST00000457062.2_Missense_Mutation_p.R913K|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1126K|FAM135A_ENST00000370479.3_Missense_Mutation_p.R913K	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1126										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGGAAGAAAGACTTACAAAA	0.368																																																	0													121	127	125					6																	71236164		2203	4300	6503	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3377G>A	6.37:g.71236164G>A	ENSP00000410768:p.Arg1126Lys		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.R1126K	ENST00000418814.2	37	c.3377	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	1.117	-0.656590	0.03480	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.21191	2.34;2.34;2.02;2.34;2.34;2.33	5.96	5.0	0.66597	.	0.527817	0.22150	N	0.063937	T	0.03263	0.0095	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.12837	0.002;0.001;0.008;0.002	T	0.45145	-0.9281	10	0.02654	T	1	.	4.5261	0.11981	0.2525:0.1993:0.5482:0.0	.	1126;1126;930;913	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	K	1126;913;706;913;930;1126	ENSP00000410768:R1126K;ENSP00000359510:R913K;ENSP00000423785:R706K;ENSP00000409201:R913K;ENSP00000354913:R930K;ENSP00000423307:R1126K	ENSP00000354913:R930K	R	+	2	0	FAM135A	71292885	0.993000	0.37304	0.080000	0.20451	0.096000	0.18686	2.809000	0.47971	1.399000	0.46721	0.655000	0.94253	AGA	FAM135A	-	NULL	ENSG00000082269		0.368	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	-	0	31	0	G	NM_020819		71236164	1	tier1	-	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.218	A	A	71236164	G	A	71236164	3	1	26	1	0	0	0	0	1	0	0	0	5467	942	33	3	3505	3	FAM135A	6	71236164	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	19103490	71236164	99878903	120	6672											
SNAP91	9892	genome.wustl.edu	37	chr6	84371233	84371233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacataccctttcttcaccCtggcaaaatcaaaggccatc	14	9	4	14	0	3	0	2	0	1	0	4	0	3	0	3	2	2	1	3	2	5	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:84371233C>G	ENST00000439399.2	-	5	756	c.440G>C	c.(439-441)aGg>aCg	p.R147T	SNAP91_ENST00000521485.1_Missense_Mutation_p.R147T|SNAP91_ENST00000520302.1_Missense_Mutation_p.R147T|SNAP91_ENST00000369694.2_Missense_Mutation_p.R147T|SNAP91_ENST00000520213.1_Missense_Mutation_p.R147T|SNAP91_ENST00000521743.1_Missense_Mutation_p.R147T|SNAP91_ENST00000428679.2_Missense_Mutation_p.R147T|SNAP91_ENST00000437520.1_Missense_Mutation_p.R147T|SNAP91_ENST00000195649.6_Missense_Mutation_p.R147T	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	147					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.R147K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTTCTTCACCCTGGCAAAATC	0.348																																																	2	Substitution - Missense(2)	lung(2)											53	50	51					6																	84371233		1807	4068	5875	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.440G>C	6.37:g.84371233C>G	ENSP00000400459:p.Arg147Thr		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.R147T	ENST00000439399.2	37	c.440	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504772	0.85176	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690	T;T;T;T;T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.13	5.13	0.70059	ENTH/VHS (1);ANTH (1);	0.048531	0.85682	D	0.000000	T	0.48429	0.1499	M	0.86651	2.83	0.51233	D	0.999915	B;P;D;P	0.53885	0.403;0.77;0.963;0.77	B;P;P;P	0.54401	0.172;0.583;0.751;0.583	T	0.58205	-0.7677	10	0.87932	D	0	-13.2673	12.3201	0.54979	0.0:0.9221:0.0:0.0779	.	147;147;147;147	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	T	147	ENSP00000429776:R147T;ENSP00000358708:R147T;ENSP00000400459:R147T;ENSP00000195649:R147T;ENSP00000412492:R147T;ENSP00000413277:R147T;ENSP00000428511:R147T;ENSP00000428215:R147T;ENSP00000428026:R147T;ENSP00000430071:R147T;ENSP00000429429:R147T;ENSP00000430441:R147T;ENSP00000358704:R147T	ENSP00000195649:R147T	R	-	2	0	SNAP91	84427952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.874000	0.63064	2.542000	0.85734	0.563000	0.77884	AGG	SNAP91	-	pfam_ANTH_dom,superfamily_ENTH_VHS	ENSG00000065609		0.348	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	-	0	36	0	C			84371233	-1	tier1	-	no_errors	ENST00000369694	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	G	G	84371233	C	G	84371233	3	3	26	1	0	0	0	0	1	0	0	0	14878	681	24	5	2379	5	SNAP91	6	84371233	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	13135069	84371233	86743834	121	6673											
ZNF292	23036	genome.wustl.edu	37	chr6	87966128	87966128	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaccctgctactacTcctctacttcaatccagtga	11	12	5	13	0	2	1	1	1	1	0	4	2	4	2	3	1	5	1	3	1	6	5	rs575913628	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:87966128T>A	ENST00000369577.3	+	8	2824	c.2781T>A	c.(2779-2781)acT>acA	p.T927T	ZNF292_ENST00000339907.4_Silent_p.T922T	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	927						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTGCTACTACTCCTCTACTTC	0.443																																																	0													77	73	74					6																	87966128		1891	4117	6008	SO:0001819	synonymous_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2781T>A	6.37:g.87966128T>A			Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T927	ENST00000369577.3	37	c.2781	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.443	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	16	0	T	NM_015021		87966128	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.000	A	A	87966128	T	A	87966128	2	1	26	1	0	0	0	0	0	0	0	1	17874	1538	54	5		5	ZNF292	6	87966128	Silent	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	3594895	87966128	83148939	122	6674											
ZNF292	23036	genome.wustl.edu	37	chr6	87971218	87971218	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacaaaaaaggatcccAttcaaattcaagaaaaaata	23	7	5	6	0	2	1	2	0	0	1	3	3	3	3	1	2	1	0	1	2	10	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:87971218A>G	ENST00000369577.3	+	8	7914	c.7871A>G	c.(7870-7872)cAt>cGt	p.H2624R	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2619R	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2624						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAAGGATCCCATTCAAATTCA	0.358																																																	0													39	36	37					6																	87971218		1842	4106	5948	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.7871A>G	6.37:g.87971218A>G	ENSP00000358590:p.His2624Arg		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H2624R	ENST00000369577.3	37	c.7871	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	A	12.22	1.871897	0.33069	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06608	3.28;3.29	6.06	4.9	0.64082	.	0.247095	0.47852	N	0.000217	T	0.03915	0.0110	M	0.68317	2.08	0.32677	N	0.516013	B	0.16166	0.016	B	0.10450	0.005	T	0.12451	-1.0547	10	0.59425	D	0.04	.	12.0252	0.53367	0.9329:0.0:0.0671:0.0	.	2624	O60281	ZN292_HUMAN	R	2624;2619	ENSP00000358590:H2624R;ENSP00000342847:H2619R	ENSP00000342847:H2619R	H	+	2	0	ZNF292	88027937	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	4.889000	0.63171	1.102000	0.41551	0.533000	0.62120	CAT	ZNF292	-	NULL	ENSG00000188994		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	16	0	A	NM_015021		87971218	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.996	G	G	87971218	A	G	87971218	3	3	26	1	0	0	0	0	1	0	0	0	17874	217	8	4	7901	4	ZNF292	6	87971218	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	5090	87971218	83143849	123	6675											
MANEA	79694	genome.wustl.edu	37	chr6	96054102	96054102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctatcacctcttttaatGagtggcatgaaggaactcag	11	14	8	8	0	4	2	2	2	2	0	4	3	4	3	1	2	1	1	1	2	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:96054102G>C	ENST00000358812.4	+	5	1344	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	404	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		CTCTTTTAATGAGTGGCATGA	0.423																																																	0													59	61	60					6																	96054102		2203	4300	6503	SO:0001583	missense	0			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1210G>C	6.37:g.96054102G>C	ENSP00000351669:p.Glu404Gln		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.E404Q	ENST00000358812.4	37	c.1210	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925197	0.92319	.	.	ENSG00000172469	ENST00000358812	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86028	0.1511	9	0.87932	D	0	-18.1636	19.8676	0.96824	0.0:0.0:1.0:0.0	.	404	Q5SRI9	MANEA_HUMAN	Q	404	.	ENSP00000351669:E404Q	E	+	1	0	MANEA	96160823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.357000	0.97099	2.941000	0.99782	0.655000	0.94253	GAG	MANEA	-	NULL	ENSG00000172469		0.423	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1	-	0	26	0	G	NM_024641		96054102	1	tier1	-	no_errors	ENST00000358812	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	C	C	96054102	G	C	96054102	3	2	26	1	0	0	0	0	1	0	0	0	9259	1291	45	5	1224	5	MANEA	6	96054102	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	8082884	96054102	75060965	124	6676											
LAMA2	3908	genome.wustl.edu	37	chr6	129724965	129724965	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttgaatcatcccaccaGaatccttgatgaggctaaaa	13	13	6	9	0	1	4	1	3	0	1	3	4	3	4	3	1	0	1	3	1	4	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:129724965G>C	ENST00000421865.2	+	40	5775		c.e40-1			NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATCCCACCAGAATCCTTGAT	0.403																																																	0													79	80	80					6																	129724965		2203	4300	6503	SO:0001630	splice_region_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5727-1G>C	6.37:g.129724965G>C			Q14736|Q5VUM2|Q93022	Splice_Site	SNP	-	e40-1	ENST00000421865.2	37	c.5727-1	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008129	0.54361	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7297	0.96177	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA2	129766658	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	8.756000	0.91651	2.658000	0.90341	0.650000	0.86243	.	LAMA2	-	-	ENSG00000196569		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	34	0	G		Intron	129724965	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	splice_site	13.89	31	5	SNP	1.000	C	C	129724965	G	C	129724965	5	2	26	1	0	0	0	0	0	0	1	0	8634	956	33	5	5884	5	LAMA2	6	129724965	Splice_Site	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	33670863	129724965	41390102	125	6677											
KIAA1244	57221	genome.wustl.edu	37	chr6	138649248	138649248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattattgagctgcctcctGatgaaaaaccaaatggacac	14	10	7	10	0	1	3	1	3	0	0	2	4	2	4	3	1	3	1	3	1	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:138649248G>C	ENST00000251691.4	+	32	5258	c.5092G>C	c.(5092-5094)Gat>Cat	p.D1698H		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCTGCCTCCTGATGAAAAACC	0.438																																																	0													76	59	65					6																	138649248		2202	4297	6499	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5092G>C	6.37:g.138649248G>C	ENSP00000251691:p.Asp1698His			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.D1698H	ENST00000251691.4	37	c.5092	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397196	0.62177	.	.	ENSG00000112379	ENST00000251691	T	0.19938	2.11	5.49	5.49	0.81192	.	0.117485	0.56097	D	0.000035	T	0.23210	0.0561	L	0.36672	1.1	0.47659	D	0.99948	D	0.54397	0.966	P	0.54401	0.751	T	0.00998	-1.1486	10	0.62326	D	0.03	-30.3502	19.3711	0.94488	0.0:0.0:1.0:0.0	.	1698	Q5TH69	BIG3_HUMAN	H	1698	ENSP00000251691:D1698H	ENSP00000251691:D1698H	D	+	1	0	KIAA1244	138690941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.570000	0.82390	2.585000	0.87301	0.655000	0.94253	GAT	KIAA1244	-	NULL	ENSG00000112379		0.438	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4		0	8	0	G	NM_020340		138649248	1			no_errors	ENST00000251691	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	C	C	138649248	G	C	138649248	3	2	26	1	0	0	0	0	1	0	0	0	8244	1290	45	5	5218	5	KIAA1244	6	138649248	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	8924283	138649248	32465819	126	6678											
SHPRH	257218	genome.wustl.edu	37	chr6	146268631	146268631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctactataccctcctacctCgggaagagtgagagcatctt	10	10	8	13	1	1	2	0	1	1	2	3	4	2	3	4	1	4	1	4	1	5	5	rs577017273		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr6:146268631C>T	ENST00000367505.2	-	6	1474	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	SHPRH_ENST00000275233.7_Missense_Mutation_p.E404K|SHPRH_ENST00000438092.2_Missense_Mutation_p.E404K|SHPRH_ENST00000367503.3_Missense_Mutation_p.E404K			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	404					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCTCCTACCTCGGGAAGAGTG	0.448																																																	0													133	130	131					6																	146268631		1952	4143	6095	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1210G>A	6.37:g.146268631C>T	ENSP00000356475:p.Glu404Lys		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.E404K	ENST00000367505.2	37	c.1210	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460174	0.84317	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74106	-0.81;-0.81;-0.8;-0.81	5.4	5.4	0.78164	DEAD-like helicase (1);	0.082034	0.49916	D	0.000131	T	0.78710	0.4326	L	0.54323	1.7	0.54753	D	0.999986	D;D;D;D	0.89917	0.996;0.998;0.998;1.0	P;D;P;D	0.66716	0.734;0.916;0.863;0.946	T	0.72453	-0.4289	10	0.21540	T	0.41	-24.1199	19.547	0.95302	0.0:1.0:0.0:0.0	.	293;404;404;293	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	K	404;404;404;404;293	ENSP00000356475:E404K;ENSP00000356473:E404K;ENSP00000412797:E404K;ENSP00000275233:E404K	ENSP00000275233:E404K	E	-	1	0	SHPRH	146310324	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.677000	0.68142	2.693000	0.91896	0.585000	0.79938	GAG	SHPRH	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd	ENSG00000146414		0.448	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	-	0	33	0	C	NM_173082		146268631	-1	tier1	-	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	T	T	146268631	C	T	146268631	3	4	26	1	0	0	0	0	1	0	0	0	14336	893	31	1	3985	1	SHPRH	6	146268631	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	7619383	146268631	24846436	127	6679											
AEBP1	165	genome.wustl.edu	37	chr7	44147454	44147454	+	Frame_Shift_Del	DEL	A	A	-																															cccaggccacccccaagcagAaggaggaggcccgagcgggt																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:44147454delA	ENST00000223357.3	+	5	1091	c.786delA	c.(784-786)agafs	p.R265fs	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	265	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCAAGCAGAAGGAGGAGGC	0.687																																																	0													13	17	16					7																	44147454		2194	4283	6477	SO:0001589	frameshift_variant	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.786delA	7.37:g.44147454delA	ENSP00000223357:p.Arg265fs		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Frame_Shift_Del	DEL	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.R263fs	ENST00000223357.3	37	c.786	CCDS5476.1	7																																																																																			AEBP1	-	NULL	ENSG00000106624		0.687	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2		0	38	0	A	NM_001129		44147454	1	tier1		no_errors	ENST00000223357	ensembl	human	known	74_37	frame_shift_del	35.29	44	24	DEL	1.000	-	-	44147454	A	-	44147454	7	5	26	1	0	1	0	1	0	0	0	0	349	243	9	0	804	0	AEBP1	7	44147454	Frame_Shift_Del	DEL	A	TCGA-IG-A5B8-01A-11D-A28B-09		44147454	114991209	128	6680											
CCDC146	57639	genome.wustl.edu	37	chr7	76891437	76891437	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcctttacctggaacaGagggatcttggatctcaatt	9	15	8	9	0	3	1	1	0	3	1	5	4	4	4	2	3	2	0	2	3	3	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:76891437G>A	ENST00000285871.4	+	9	1113		c.e9-1		CCDC146_ENST00000415740.2_Splice_Site|CCDC146_ENST00000431197.1_Splice_Site	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACCTGGAACAGAGGGATCTTG	0.378																																																	0													79	79	79					7																	76891437		2203	4300	6503	SO:0001630	splice_region_variant	0			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.987-1G>A	7.37:g.76891437G>A			A8K8X6|Q9P223	Splice_Site	SNP	-	e8-1	ENST00000285871.4	37	c.987-1	CCDS34671.1	7	.	.	.	.	.	.	.	.	.	.	G	9.028	0.986451	0.18889	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	.	.	.	5.78	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7493	0.62897	0.075:0.0:0.925:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC007000.1	76729373	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	4.512000	0.60469	1.466000	0.48025	-0.251000	0.11542	.	CCDC146	-	-	ENSG00000135205		0.378	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	-	0	36	0	G	NM_020879	Intron	76891437	1	tier1	-	no_errors	ENST00000285871	ensembl	human	known	74_37	splice_site	23.91	35	11	SNP	1.000	A	A	76891437	G	A	76891437	5	1	26	1	0	0	0	0	0	0	1	0	2787	956	33	3	1016	3	CCDC146	7	76891437	Splice_Site	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	32743983	76891437	82247226	129	6681											
SEMA3E	9723	genome.wustl.edu	37	chr7	82997166	82997166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgtgatgcctgtcCtcctcatcgtccttgttaaa	6	14	8	13	1	1	1	1	1	0	0	6	1	5	1	5	1	1	2	5	1	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:82997166C>A	ENST00000307792.3	-	17	2531	c.2064G>T	c.(2062-2064)gaG>gaT	p.E688D	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E628D	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	688					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATGCCTGTCCTCCTCATCGT	0.478																																																	0													146	123	131					7																	82997166		2203	4300	6503	SO:0001583	missense	0			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2064G>T	7.37:g.82997166C>A	ENSP00000303212:p.Glu688Asp		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.E688D	ENST00000307792.3	37	c.2064	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	C	6.294	0.422422	0.11928	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.31769	1.53;1.48	5.68	1.37	0.22104	.	0.729939	0.13611	N	0.375114	T	0.18718	0.0449	N	0.22421	0.69	0.44309	D	0.997187	B	0.02656	0.0	B	0.04013	0.001	T	0.08229	-1.0732	10	0.15066	T	0.55	.	11.2836	0.49210	0.0:0.5939:0.0:0.4061	.	688	O15041	SEM3E_HUMAN	D	688;628;688	ENSP00000303212:E688D;ENSP00000405052:E628D	ENSP00000303212:E688D	E	-	3	2	SEMA3E	82835102	0.764000	0.28473	0.430000	0.26722	0.074000	0.17049	-0.076000	0.11412	0.355000	0.24131	-0.335000	0.08231	GAG	SEMA3E	-	NULL	ENSG00000170381		0.478	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	-	0	87	0	C	NM_012431		82997166	-1	tier1	-	no_errors	ENST00000307792	ensembl	human	known	74_37	missense	28.00	53	21	SNP	0.995	A	A	82997166	C	A	82997166	3	1	26	1	0	0	0	0	1	0	0	0	14073	680	24	3	267	3	SEMA3E	7	82997166	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	6105729	82997166	76141497	130	6682											
RUNDC3B	154661	genome.wustl.edu	37	chr7	87258250	87258250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagaggaggaacctgatCaccgtgtgcaggtacggcag	10	6	17	8	2	1	2	1	1	0	1	1	5	1	4	2	5	3	3	2	5	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:87258250C>T	ENST00000338056.3	+	1	522	c.111C>T	c.(109-111)atC>atT	p.I37I	RUNDC3B_ENST00000493037.1_Silent_p.I37I|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000394654.3_Silent_p.I37I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	37										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GGAACCTGATCACCGTGTGCA	0.726																																																	0													22	24	23					7																	87258250		2195	4295	6490	SO:0001819	synonymous_variant	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.111C>T	7.37:g.87258250C>T			B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.I37	ENST00000338056.3	37	c.111	CCDS5609.1	7																																																																																			RUNDC3B	-	NULL	ENSG00000105784		0.726	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	-	0	23	0	C	NM_138290		87258250	1	tier1	-	no_errors	ENST00000338056	ensembl	human	known	74_37	silent	33.33	10	5	SNP	1.000	T	T	87258250	C	T	87258250	2	4	26	1	0	0	0	0	0	0	0	1	13790	816	29	3		3	RUNDC3B	7	87258250	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	4261084	87258250	71880413	131	6683											
CYP51A1	1595	genome.wustl.edu	37	chr7	91752604	91752604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataagcatccctgctacttCatcatcagtcaaaggacgcc	13	9	6	13	1	4	0	4	0	0	0	5	1	5	1	2	1	3	2	2	1	4	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:91752604C>T	ENST00000003100.8	-	7	1081	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.E201K	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	300					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CCTGCTACTTCATCATCAGTC	0.418																																					GBM(70;1100 1190 11592 25836 51397)												0													143	141	142					7																	91752604		2203	4300	6503	SO:0001583	missense	0			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.916G>A	7.37:g.91752604C>T	ENSP00000003100:p.Glu306Lys		A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.E306K	ENST00000003100.8	37	c.916	CCDS5623.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.701014	0.96812	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723	T;T	0.72167	-0.63;-0.63	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	M	0.91717	3.235	0.80722	D	1	D;D	0.64830	0.992;0.994	P;D	0.64237	0.887;0.923	D	0.89369	0.3673	10	0.87932	D	0	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	246;300	B3KRC6;Q16850	.;CP51A_HUMAN	K	306;246;201	ENSP00000003100:E306K;ENSP00000406757:E201K	ENSP00000003100:E306K	E	-	1	0	CYP51A1	91590540	1.000000	0.71417	0.887000	0.34795	0.872000	0.50106	7.751000	0.85126	2.771000	0.95319	0.650000	0.86243	GAA	CYP51A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000001630		0.418	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP51A1	HGNC	protein_coding	OTTHUMT00000253812.4	-	0	47	0	C			91752604	-1	tier1	-	no_errors	ENST00000003100	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	T	T	91752604	C	T	91752604	3	4	26	1	0	0	0	0	1	0	0	0	4204	835	29	3	629	3	CYP51A1	7	91752604	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	4494354	91752604	67386059	132	6684											
HEPACAM2	253012	genome.wustl.edu	37	chr7	92844738	92844738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgatgggcataatgatatCactttccatttcactgacag	12	14	7	8	0	2	3	2	3	0	0	3	3	3	3	1	1	0	1	1	1	3	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:92844738C>T	ENST00000394468.2	-	3	768	c.691G>A	c.(691-693)Gat>Aat	p.D231N	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.D219N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.D254N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.D219N	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	231	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATAATGATATCACTTTCCATT	0.373																																																	0													113	107	109					7																	92844738		2203	4300	6503	SO:0001583	missense	0			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.691G>A	7.37:g.92844738C>T	ENSP00000377980:p.Asp231Asn		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D231N	ENST00000394468.2	37	c.691	CCDS43616.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983805	0.74474	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.28	4.4	0.53042	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.422720	0.30093	N	0.010435	T	0.14227	0.0344	L	0.52206	1.635	0.36294	D	0.856607	P;P;P;P	0.52692	0.918;0.955;0.837;0.804	P;P;P;B	0.49140	0.601;0.579;0.516;0.382	T	0.11324	-1.0592	10	0.45353	T	0.12	-15.4192	14.1732	0.65525	0.0:0.9272:0.0:0.0728	.	254;219;231;219	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	N	231;219;219;254	ENSP00000377980:D231N;ENSP00000340532:D219N;ENSP00000389592:D219N;ENSP00000390204:D254N	ENSP00000340532:D219N	D	-	1	0	HEPACAM2	92682674	1.000000	0.71417	0.997000	0.53966	0.859000	0.49053	2.758000	0.47565	1.365000	0.46057	0.591000	0.81541	GAT	HEPACAM2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000188175		0.373	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM2	HGNC	protein_coding	OTTHUMT00000254651.1	-	0	60	0	C	NM_198151		92844738	-1	tier1	-	no_errors	ENST00000394468	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	T	T	92844738	C	T	92844738	3	4	26	1	0	0	0	0	1	0	0	0	7080	826	29	3	729	3	HEPACAM2	7	92844738	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1092134	92844738	66293925	133	6685											
TRRAP	8295	genome.wustl.edu	37	chr7	98601877	98601877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttctaagttgaaaaagtgGatcaaaatcttggaggccaa	16	11	9	5	0	3	1	1	1	2	0	3	3	3	3	1	3	0	1	1	3	6	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:98601877G>C	ENST00000359863.4	+	67	10541	c.10332G>C	c.(10330-10332)tgG>tgC	p.W3444C	TRRAP_ENST00000355540.3_Missense_Mutation_p.W3415C|TRRAP_ENST00000446306.3_Missense_Mutation_p.W3433C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3444					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGAAAAAGTGGATCAAAATCT	0.383																																																	0													87	99	95					7																	98601877		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10332G>C	7.37:g.98601877G>C	ENSP00000352925:p.Trp3444Cys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.W3444C	ENST00000359863.4	37	c.10332	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.351003|4.351003	0.82132|0.82132	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|D;D	.|0.81579	.|-1.51;-1.51	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92237|0.92237	0.7538|0.7538	M|M	0.91972|0.91972	3.26|3.26	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.991;0.991	D|D	0.93582|0.93582	0.6913|0.6913	5|10	.|0.87932	.|D	.|0	.|.	19.3185|19.3185	0.94226|0.94226	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3415;3172;3444	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	A|C	3173|3444;3415;3432	.|ENSP00000352925:W3444C;ENSP00000347733:W3415C	.|ENSP00000347733:W3415C	G|W	+|+	2|3	0|0	TRRAP|TRRAP	98439813|98439813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.869000|9.869000	0.99810|0.99810	2.574000|2.574000	0.86865|0.86865	0.650000|0.650000	0.86243|0.86243	GGA|TGG	TRRAP	-	superfamily_Kinase-like_dom	ENSG00000196367		0.383	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	31	0	G	NM_003496		98601877	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	C	C	98601877	G	C	98601877	3	2	26	1	0	0	0	0	1	0	0	0	16649	1183	41	5	10503	5	TRRAP	7	98601877	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5757139	98601877	60536786	134	6686											
TRRAP	8295	genome.wustl.edu	37	chr7	98601974	98601974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttctcggcacagacagctGaagtggaaattcctggggag	11	9	13	8	1	1	2	0	1	1	1	3	4	2	4	1	4	1	2	1	4	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:98601974G>A	ENST00000359863.4	+	67	10638	c.10429G>A	c.(10429-10431)Gaa>Aaa	p.E3477K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E3448K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E3466K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3477					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGACAGCTGAAGTGGAAAT	0.498																																																	0													89	96	93					7																	98601974		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10429G>A	7.37:g.98601974G>A	ENSP00000352925:p.Glu3477Lys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E3477K	ENST00000359863.4	37	c.10429	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.658754	0.96734	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.80994	-1.44;-1.44	5.61	5.61	0.85477	Protein kinase-like domain (1);	0.052717	0.64402	D	0.000001	D	0.91324	0.7264	M	0.87900	2.915	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.991	D;P;P	0.73708	0.981;0.871;0.828	D	0.92148	0.5726	10	0.72032	D	0.01	.	19.6414	0.95758	0.0:0.0:1.0:0.0	.	3448;3205;3477	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	3477;3448;3465	ENSP00000352925:E3477K;ENSP00000347733:E3448K	ENSP00000347733:E3448K	E	+	1	0	TRRAP	98439910	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	9.869000	0.99810	2.655000	0.90218	0.650000	0.86243	GAA	TRRAP	-	superfamily_Kinase-like_dom	ENSG00000196367		0.498	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	38	0	G	NM_003496		98601974	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	A	A	98601974	G	A	98601974	3	1	26	1	0	0	0	0	1	0	0	0	16649	1291	45	3	10600	3	TRRAP	7	98601974	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	97	98601974	60536689	135	6687											
RELN	5649	genome.wustl.edu	37	chr7	103175830	103175830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctgacaccaggatccGttgcagatgatagcgactgc	10	9	12	10	2	1	3	0	2	1	1	2	5	2	4	2	1	3	2	2	1	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:103175830G>C	ENST00000428762.1	-	46	7441	c.7282C>G	c.(7282-7284)Cgg>Ggg	p.R2428G	RELN_ENST00000343529.5_Missense_Mutation_p.R2428G|RELN_ENST00000424685.2_Missense_Mutation_p.R2428G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2428					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R2428W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCAGGATCCGTTGCAGATGA	0.458																																					NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - Missense(1)	kidney(1)											175	134	147					7																	103175830		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7282C>G	7.37:g.103175830G>C	ENSP00000392423:p.Arg2428Gly		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.R2428G	ENST00000428762.1	37	c.7282	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473662	0.63737	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21932	1.98;1.98;1.98	5.57	2.32	0.28847	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.38904	0.1058	L	0.54323	1.7	0.47621	D	0.999473	D;P	0.76494	0.999;0.936	D;P	0.69479	0.964;0.569	T	0.29731	-1.0002	10	0.72032	D	0.01	.	14.2227	0.65839	0.0:0.0:0.3047:0.6953	.	2428;2428	P78509-2;P78509	.;RELN_HUMAN	G	2428	ENSP00000392423:R2428G;ENSP00000345694:R2428G;ENSP00000388446:R2428G	ENSP00000345694:R2428G	R	-	1	2	RELN	102963066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.032000	0.41127	0.662000	0.31006	0.655000	0.94253	CGG	RELN	-	superfamily_Sialidases	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	66	0	G	NM_005045		103175830	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	16.39	51	10	SNP	1.000	C	C	103175830	G	C	103175830	3	2	26	1	0	0	0	0	1	0	0	0	13265	1144	40	5	3180	5	RELN	7	103175830	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4573856	103175830	55962833	136	6688											
SLC26A4	5172	genome.wustl.edu	37	chr7	107334901	107334901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgccattcttgccctgggGaagcttctggaacccttgca	7	11	10	13	1	2	0	0	0	2	0	3	2	2	2	3	3	4	2	3	3	2	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:107334901G>A	ENST00000265715.3	+	11	1541	c.1317G>A	c.(1315-1317)ggG>ggA	p.G439G	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Silent_p.G8G|SLC26A4_ENST00000544569.1_Silent_p.G26G|SLC26A4_ENST00000541474.1_Intron	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	439					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGCCCTGGGGAAGCTTCTGG	0.478									Pendred syndrome																																								0													186	166	173					7																	107334901		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1317G>A	7.37:g.107334901G>A			B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.G439	ENST00000265715.3	37	c.1317	CCDS5746.1	7																																																																																			SLC26A4	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091137		0.478	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	-	0	46	0	G	NM_000441		107334901	1	tier1	-	no_errors	ENST00000265715	ensembl	human	known	74_37	silent	20.00	44	11	SNP	0.998	A	A	107334901	G	A	107334901	2	1	26	1	0	0	0	0	0	0	0	1	14564	1161	41	3		3	SLC26A4	7	107334901	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4159071	107334901	51803762	137	6689											
CFTR	1080	genome.wustl.edu	37	chr7	117227862	117227862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaatcacactgagtggaggtCaacgagcaagaatttcttta	14	10	10	7	1	3	2	2	1	1	1	3	5	3	3	0	2	2	1	0	2	5	3	rs397508253|rs76554633		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:117227862C>G	ENST00000003084.6	+	12	1786	c.1654C>G	c.(1654-1656)Caa>Gaa	p.Q552E	CFTR_ENST00000454343.1_Missense_Mutation_p.Q491E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	552	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GAGTGGAGGTCAACGAGCAAG	0.348									Cystic Fibrosis																																								0			GRCh37	CM910072|CM962464	CFTR	M	rs76554633						105	105	105					7																	117227862		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1654C>G	7.37:g.117227862C>G	ENSP00000003084:p.Gln552Glu		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.Q552E	ENST00000003084.6	37	c.1654	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975277	0.92919	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.91740	-2.9;-2.9;-2.9	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95544	0.8552	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95756	0.8796	10	0.87932	D	0	-11.9227	19.2582	0.93955	0.0:1.0:0.0:0.0	.	552	P13569	CFTR_HUMAN	E	552;491;522	ENSP00000003084:Q552E;ENSP00000403677:Q491E;ENSP00000389119:Q522E	ENSP00000003084:Q552E	Q	+	1	0	CFTR	117015098	1.000000	0.71417	0.956000	0.39512	0.986000	0.74619	6.901000	0.75693	2.622000	0.88805	0.655000	0.94253	CAA	CFTR	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.348	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0	31	0	C	NM_000492		117227862	1			no_errors	ENST00000003084	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	G	G	117227862	C	G	117227862	3	3	26	1	0	0	0	0	1	0	0	0	3301	827	29	5	1700	5	CFTR	7	117227862	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	9892961	117227862	41910801	138	6690											
CTAGE6P	340307	genome.wustl.edu	37	chr7	143453407	143453407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcttttgataaaaatGaacagttctctccaattctt	13	15	4	9	0	2	2	0	2	2	0	4	2	3	2	2	0	3	2	2	0	6	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:143453407G>T	ENST00000470691.2	-	1	1382	c.1345C>A	c.(1345-1347)Cat>Aat	p.H449N	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	449						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					TGATAAAAATGAACAGTTCTC	0.413																																																	0													34	32	33					7																	143453407		1759	3940	5699	SO:0001583	missense	0			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"CTAGE family, member 6, pseudogene"	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1345C>A	7.37:g.143453407G>T	ENSP00000474388:p.His449Asn		A4FU29|Q3ZCM5	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.H449N	ENST00000470691.2	37	c.1345		7																																																																																			CTAGE6	-	NULL	ENSG00000271321		0.413	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	CTAGE6	HGNC	protein_coding	OTTHUMT00000349580.2		0	109	0	G	NM_178561		143453407	-1			no_errors	ENST00000470691	ensembl	human	known	74_37	missense	6.90	108	8	SNP	0.039	T	T	143453407	G	T	143453407	3	4	26	1	0	0	0	0	1	0	0	0	4004	1290	45	3	992	3	CTAGE6P	7	143453407	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	26225545	143453407	15685256	139	6691											
PDIA4	9601	genome.wustl.edu	37	chr7	148701243	148701243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttcccaccacgaccttGacgggtcccttgttgttctt	4	15	8	14	2	2	1	0	1	2	0	4	2	4	1	4	1	0	2	4	1	0	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:148701243G>A	ENST00000286091.4	-	10	1813	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	527	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCACGACCTTGACGGGTCCCT	0.572																																																	0													166	151	157					7																	148701243		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1581C>T	7.37:g.148701243G>A			A8K4K6|Q549T6	Silent	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.V527	ENST00000286091.4	37	c.1581	CCDS5893.1	7																																																																																			PDIA4	-	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000155660		0.572	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	-	0	94	0	G	NM_004911		148701243	-1	tier1	-	no_errors	ENST00000286091	ensembl	human	known	74_37	silent	15.32	94	17	SNP	0.960	A	A	148701243	G	A	148701243	2	1	26	1	0	0	0	0	0	0	0	1	11709	1277	45	3		3	PDIA4	7	148701243	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5247836	148701243	10437420	140	6692											
SLC4A2	6522	genome.wustl.edu	37	chr7	150768592	150768592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgccgctatccccactacctGagtgacttccgagatgcact	8	9	8	16	3	0	3	0	2	0	1	2	4	2	3	5	0	2	2	5	0	2	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:150768592G>A	ENST00000485713.1	+	14	3131	c.2091G>A	c.(2089-2091)ctG>ctA	p.L697L	SLC4A2_ENST00000413384.2_Silent_p.L697L|SLC4A2_ENST00000310317.5_Silent_p.L615L|SLC4A2_ENST00000392826.2_Silent_p.L688L|SLC4A2_ENST00000461735.1_Silent_p.L683L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	697					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCACTACCTGAGTGACTTCC	0.637																																																	0													53	54	54					7																	150768592		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2091G>A	7.37:g.150768592G>A			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.L697	ENST00000485713.1	37	c.2091	CCDS5917.1	7																																																																																			SLC4A2	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.637	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	-	0	43	0	G	NM_003040		150768592	1	tier1	-	no_errors	ENST00000413384	ensembl	human	known	74_37	silent	13.33	39	6	SNP	1.000	A	A	150768592	G	A	150768592	2	1	26	1	0	0	0	0	0	0	0	1	14699	1277	45	3		3	SLC4A2	7	150768592	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2067349	150768592	8370071	141	6693											
ABCF2	10061	genome.wustl.edu	37	chr7	150912737	150912737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaatgatcttcctcatttCttccttctccttgatctctg	5	18	3	15	0	5	2	1	2	4	0	9	2	7	2	4	0	0	0	4	0	1	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:150912737C>G	ENST00000287844.2	-	13	1592	c.1483G>C	c.(1483-1485)Gaa>Caa	p.E495Q	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.E495Q	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	495	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTCATTTCTTCCTTCTCC	0.483																																																	0													281	241	254					7																	150912737		2203	4300	6503	SO:0001583	missense	0			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1483G>C	7.37:g.150912737C>G	ENSP00000287844:p.Glu495Gln		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E495Q	ENST00000287844.2	37	c.1483	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640192	0.47153	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	D;D	0.93763	-3.28;-3.28	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.043666	0.85682	D	0.000000	D	0.91925	0.7443	L	0.52011	1.625	0.80722	D	1	B;B	0.21520	0.033;0.057	B;B	0.26310	0.068;0.068	D	0.88287	0.2940	10	0.44086	T	0.13	-18.8715	18.6737	0.91521	0.0:1.0:0.0:0.0	.	495;495	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	Q	495	ENSP00000222388:E495Q;ENSP00000287844:E495Q	ENSP00000222388:E495Q	E	-	1	0	ABCF2	150543670	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	7.237000	0.78164	2.637000	0.89404	0.561000	0.74099	GAA	ABCF2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000033050		0.483	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	-	0	127	0	C	NM_005692		150912737	-1	tier1	-	no_errors	ENST00000222388	ensembl	human	known	74_37	missense	15.13	129	23	SNP	1.000	G	G	150912737	C	G	150912737	3	3	26	1	0	0	0	0	1	0	0	0	66	922	32	5	441	5	ABCF2	7	150912737	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	144145	150912737	8225926	142	6694											
GALNT11	63917	genome.wustl.edu	37	chr7	151807728	151807728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaatttggaaatatcatttCgggtaatttaatttttgcat	14	18	6	3	1	1	0	1	0	0	0	2	1	1	1	0	2	1	2	0	2	6	8	rs147464952		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:151807728C>T	ENST00000434507.1	+	9	1515	c.1078C>T	c.(1078-1080)Cgg>Tgg	p.R360W	GALNT11_ENST00000320311.2_Missense_Mutation_p.R360W|GALNT11_ENST00000452146.2_Missense_Mutation_p.R279W|GALNT11_ENST00000430044.2_Missense_Mutation_p.R360W			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	360	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AATATCATTTCGGGTAATTTA	0.328																																																	0								C	TRP/ARG	0,4406		0,0,2203	131	139	136		1078	3.1	1	7	dbSNP_134	136	1,8599		0,1,4299	no	missense	GALNT11	NM_022087.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	360/609	151807728	1,13005	2203	4300	6503	SO:0001583	missense	0			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19875	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 11"	615130	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1078C>T	7.37:g.151807728C>T	ENSP00000416787:p.Arg360Trp		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R360W	ENST00000434507.1	37	c.1078	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646186	0.67358	0.0	1.16E-4	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	5.16	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99278	1.0895	10	0.87932	D	0	.	14.2635	0.66099	0.3979:0.6021:0.0:0.0	.	279;360;360	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	W	360;279;360;360;360	ENSP00000395122:R360W;ENSP00000393399:R279W;ENSP00000416787:R360W;ENSP00000315835:R360W	ENSP00000315835:R360W	R	+	1	2	GALNT11	151438661	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.399000	0.44495	1.108000	0.41662	0.561000	0.74099	CGG	GALNT11	-	NULL	ENSG00000178234		0.328	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	-	0	20	0	C	NM_022087		151807728	1	tier1	rs147464952	no_errors	ENST00000320311	ensembl	human	known	74_37	missense	28.57	14	6	SNP	1.000	T	T	151807728	C	T	151807728	3	4	26	1	0	0	0	0	1	0	0	0	6234	875	31	1	1100	1	GALNT11	7	151807728	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	894991	151807728	7330935	143	6695											
PTPRN2	5799	genome.wustl.edu	37	chr7	157333462	157333462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagccacggctgtcagCgcgaactcaaactgctcctg	8	8	9	16	3	3	0	3	0	0	0	5	1	5	0	3	1	5	2	3	1	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr7:157333462C>T	ENST00000389418.4	-	23	3003	c.2994G>A	c.(2992-2994)gcG>gcA	p.A998A	PTPRN2_ENST00000409483.1_Silent_p.A960A|PTPRN2_ENST00000389416.4_Silent_p.A981A|PTPRN2_ENST00000404321.2_Silent_p.A1021A|PTPRN2_ENST00000389413.3_Silent_p.A969A	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	998	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGGCTGTCAGCGCGAACTCAA	0.652																																																	0													25	25	25					7																	157333462		2194	4288	6482	SO:0001819	synonymous_variant	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2994G>A	7.37:g.157333462C>T			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A1021	ENST00000389418.4	37	c.3063	CCDS5947.1	7																																																																																			PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000155093		0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	-	0	73	0	C			157333462	-1	tier1	-	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	30.14	51	22	SNP	0.309	T	T	157333462	C	T	157333462	2	4	26	1	0	0	0	0	0	0	0	1	12853	755	27	1		1	PTPRN2	7	157333462	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5525734	157333462	1805201	144	6696											
GATA4	2626	genome.wustl.edu	37	chr8	11615867	11615867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcctctcggccctgaaGctctccccacaaggctatgc	6	9	8	18	1	2	1	0	1	2	0	5	1	3	1	5	2	2	2	5	2	3	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:11615867G>A	ENST00000335135.4	+	7	1770	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	GATA4_ENST00000532059.1_Silent_p.K405K|GATA4_ENST00000528712.1_Silent_p.K198K	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	404					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CGGCCCTGAAGCTCTCCCCAC	0.602																																																	0													149	128	135					8																	11615867		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"GATA zinc finger domain containing"	4173	protein-coding gene	gene with protein product		600576	"GATA-binding protein 4"			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.1212G>A	8.37:g.11615867G>A			B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA	p.K404	ENST00000335135.4	37	c.1212	CCDS5983.1	8																																																																																			GATA4	-	pirsf_TF_GATA_4/5/6	ENSG00000136574		0.602	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA4	HGNC	protein_coding	OTTHUMT00000207587.2	-	0	42	0	G	NM_002052		11615867	1	tier1	-	no_errors	ENST00000335135	ensembl	human	known	74_37	silent	31.11	31	14	SNP	1.000	A	A	11615867	G	A	11615867	2	1	26	1	0	0	0	0	0	0	0	1	6281	962	34	3		3	GATA4	8	11615867	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		11615867	134748155	145	6697											
STC1	6781	genome.wustl.edu	37	chr8	23702448	23702448	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtctgcaggatgtggaaGaggctggccatgttaggccc	7	10	15	9	0	2	1	0	0	2	1	2	3	2	3	2	5	1	3	2	5	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:23702448G>C	ENST00000290271.2	-	4	862	c.579C>G	c.(577-579)ctC>ctG	p.L193L	STC1_ENST00000524323.1_Silent_p.L124L	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	193					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGATGTGGAAGAGGCTGGCCA	0.522																																																	0													184	160	168					8																	23702448		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.579C>G	8.37:g.23702448G>C			B4DN22|Q71UE5	Silent	SNP	pfam_Stanniocalcin	p.L193	ENST00000290271.2	37	c.579	CCDS6043.1	8																																																																																			STC1	-	pfam_Stanniocalcin	ENSG00000159167		0.522	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC1	HGNC	protein_coding	OTTHUMT00000215143.1	-	0	46	0	G			23702448	-1	tier1	-	no_errors	ENST00000290271	ensembl	human	known	74_37	silent	37.50	35	21	SNP	1.000	C	C	23702448	G	C	23702448	2	2	26	1	0	0	0	0	0	0	0	1	15322	929	33	5		5	STC1	8	23702448	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	12086581	23702448	122661574	146	6698											
RP1	6101	genome.wustl.edu	37	chr8	55538983	55538983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtggcatctgggtatttGagaggaatggcaaagaagag	14	8	16	3	0	1	3	0	1	1	3	1	6	1	4	0	4	0	3	0	4	5	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:55538983G>C	ENST00000220676.1	+	4	2689	c.2541G>C	c.(2539-2541)ttG>ttC	p.L847F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	847					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.L847F(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGGGTATTTGAGAGGAATGG	0.343																																					Colon(91;1014 1389 7634 14542 40420)												1	Substitution - Missense(1)	cervix(1)											43	46	45					8																	55538983		2203	4298	6501	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2541G>C	8.37:g.55538983G>C	ENSP00000220676:p.Leu847Phe			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L847F	ENST00000220676.1	37	c.2541	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643723	0.47258	.	.	ENSG00000104237	ENST00000220676	T	0.57107	0.42	5.63	4.74	0.60224	.	0.386417	0.19167	N	0.121046	T	0.49830	0.1580	L	0.60455	1.87	0.31176	N	0.702584	P	0.51933	0.949	P	0.44696	0.458	T	0.61681	-0.7013	10	0.87932	D	0	.	7.26	0.26197	0.1085:0.0:0.7256:0.1659	.	847	P56715	RP1_HUMAN	F	847	ENSP00000220676:L847F	ENSP00000220676:L847F	L	+	3	2	RP1	55701536	0.755000	0.28372	0.973000	0.42090	0.852000	0.48524	1.622000	0.36997	1.306000	0.44926	0.655000	0.94253	TTG	RP1	-	NULL	ENSG00000104237		0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	19	0	G	NM_006269		55538983	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	36.36	21	12	SNP	0.895	C	C	55538983	G	C	55538983	3	2	26	1	0	0	0	0	1	0	0	0	13577	1281	45	5	2551	5	RP1	8	55538983	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	31836535	55538983	90825039	147	6699											
ADHFE1	137872	genome.wustl.edu	37	chr8	67355081	67355081	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagattatgcctttgaggTatattcactcaatccattat	13	15	5	8	0	2	2	2	1	0	1	3	2	3	2	2	1	2	1	2	1	6	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:67355081T>C	ENST00000396623.3	+	3	175		c.e3+2		ADHFE1_ENST00000415254.1_Splice_Site|ADHFE1_ENST00000379385.4_Splice_Site|ADHFE1_ENST00000496501.1_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCCTTTGAGGTATATTCACTC	0.269																																																	0													86	78	81					8																	67355081		1787	4064	5851	SO:0001630	splice_region_variant	0			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"Alcohol dehydrogenases"	16354	protein-coding gene	gene with protein product	"hydroxyacid-oxoacid transhydrogenase"	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.144+2T>C	8.37:g.67355081T>C			B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Splice_Site	SNP	-	e3+2	ENST00000396623.3	37	c.144+2	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703389	0.68501	.	.	ENSG00000147576	ENST00000379385;ENST00000396623	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3687	0.74545	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADHFE1	67517635	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.191000	0.65110	2.311000	0.77944	0.533000	0.62120	.	ADHFE1	-	-	ENSG00000147576		0.269	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	HGNC	protein_coding	OTTHUMT00000316867.3		0	22	0	T	NM_144650	Intron	67355081	1			no_errors	ENST00000396623	ensembl	human	known	74_37	splice_site	7.41	25	2	SNP	1.000	C	C	67355081	T	C	67355081	5	2	26	1	0	0	0	0	0	0	1	0	314	1652	57	4	156	4	ADHFE1	8	67355081	Splice_Site	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	11816098	67355081	79008941	148	6700											
MMP16	4325	genome.wustl.edu	37	chr8	89198796	89198796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagctacctcttgtctggtCaggtacaccgcatcggggct	6	10	13	12	2	3	0	1	0	2	0	4	1	3	1	2	5	3	4	2	5	2	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:89198796C>T	ENST00000286614.6	-	3	594	c.313G>A	c.(313-315)Gac>Aac	p.D105N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	105					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CTTGTCTGGTCAGGTACACCG	0.378																																																	0													194	171	179					8																	89198796		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.313G>A	8.37:g.89198796C>T	ENSP00000286614:p.Asp105Asn		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D105N	ENST00000286614.6	37	c.313	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.723578	0.96847	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.61392	0.11;0.11	5.72	5.72	0.89469	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	H	0.95712	3.71	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.72982	0.967;0.979	D	0.88255	0.2919	10	0.87932	D	0	.	19.8778	0.96885	0.0:1.0:0.0:0.0	.	105;105	P51512-2;P51512	.;MMP16_HUMAN	N	105;122	ENSP00000286614:D105N;ENSP00000429147:D122N	ENSP00000286614:D105N	D	-	1	0	MMP16	89267912	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.710000	0.92621	0.585000	0.79938	GAC	MMP16	-	pirsf_Pept_M10A_Metazoans,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A	ENSG00000156103		0.378	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	45	0	C	NM_005941		89198796	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	18.00	41	9	SNP	1.000	T	T	89198796	C	T	89198796	3	4	26	1	0	0	0	0	1	0	0	0	9693	826	29	3	1698	3	MMP16	8	89198796	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	21843715	89198796	57165226	149	6701											
OSR2	116039	genome.wustl.edu	37	chr8	99963845	99963845	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagacatcaagccctacagCtgcgagcagtgcggcaaagt	13	5	11	12	2	1	1	1	0	0	1	1	2	1	1	1	1	6	3	1	1	3	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:99963845C>T	ENST00000297565.4	+	4	1351	c.855C>T	c.(853-855)agC>agT	p.S285S	OSR2_ENST00000435298.2_Missense_Mutation_p.A258V|OSR2_ENST00000522510.1_Silent_p.S285S|OSR2_ENST00000457907.2_Silent_p.S406S	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	285					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			AGCCCTACAGCTGCGAGCAGT	0.522																																																	0													51	54	53					8																	99963845		2040	4192	6232	SO:0001819	synonymous_variant	0			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.855C>T	8.37:g.99963845C>T			A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A258V	ENST00000297565.4	37	c.773	CCDS47901.1	8	.	.	.	.	.	.	.	.	.	.	C	9.032	0.987624	0.18966	.	.	ENSG00000164920	ENST00000435298	T	0.05786	3.39	5.65	4.76	0.60689	.	.	.	.	.	T	0.04679	0.0127	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42766	-0.9432	7	.	.	.	-12.266	9.492	0.38965	0.144:0.7858:0.0:0.0702	.	258	Q8N2R0-2	.	V	258	ENSP00000402862:A258V	.	A	+	2	0	OSR2	100033021	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.691000	0.61738	1.595000	0.50050	0.655000	0.94253	GCT	OSR2	-	NULL	ENSG00000164920		0.522	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1	-	0	56	0	C	NM_053001		99963845	1	tier1	-	no_errors	ENST00000435298	ensembl	human	known	74_37	missense	34.55	35	19	SNP	1.000	T	T	99963845	C	T	99963845	2	4	26	1	0	0	0	0	0	0	0	1	11333	797	28	3		3	OSR2	8	99963845	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	10765049	99963845	46400177	150	6702											
VPS13B	157680	genome.wustl.edu	37	chr8	100791077	100791077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagactgtaaacttctaGagtgcagaaatgtcactatg	15	10	9	7	0	2	3	1	0	1	3	2	3	2	3	0	0	3	3	0	0	6	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:100791077G>C	ENST00000358544.2	+	42	7783	c.7672G>C	c.(7672-7674)Gag>Cag	p.E2558Q	VPS13B_ENST00000357162.2_Missense_Mutation_p.E2533Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2558					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAACTTCTAGAGTGCAGAAA	0.458																																					Colon(161;2205 2542 7338 31318)												0													125	116	119					8																	100791077		2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7672G>C	8.37:g.100791077G>C	ENSP00000351346:p.Glu2558Gln		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.E2558Q	ENST00000358544.2	37	c.7672	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957080	0.92726	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72505	-0.66;-0.66	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.82356	-0.0498	10	0.62326	D	0.03	.	19.5118	0.95144	0.0:0.0:1.0:0.0	.	2533;2558	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	2533;2558	ENSP00000349685:E2533Q;ENSP00000351346:E2558Q	ENSP00000349685:E2533Q	E	+	1	0	VPS13B	100860253	1.000000	0.71417	0.964000	0.40570	0.991000	0.79684	9.165000	0.94761	2.612000	0.88384	0.655000	0.94253	GAG	VPS13B	-	NULL	ENSG00000132549		0.458	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	55	0	G	NM_184042		100791077	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	19.12	55	13	SNP	1.000	C	C	100791077	G	C	100791077	3	2	26	1	0	0	0	0	1	0	0	0	17239	943	33	5	8028	5	VPS13B	8	100791077	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	827232	100791077	45572945	151	6703											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110374853	110374853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttggggcctctgtgggcTgctcctgtgtgccgcggatc	2	13	15	11	2	1	0	0	0	1	0	3	1	2	1	3	4	2	2	3	4	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:110374853T>A	ENST00000378402.5	+	1	148	c.44T>A	c.(43-45)cTg>cAg	p.L15Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	15					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCTGTGGGCTGCTCCTGTGT	0.642										HNSCC(38;0.096)																																							0													40	46	44					8																	110374853		1930	4151	6081	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.44T>A	8.37:g.110374853T>A	ENSP00000367655:p.Leu15Gln		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.L15Q	ENST00000378402.5	37	c.44	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	T	14.14	2.446747	0.43429	.	.	ENSG00000205038	ENST00000378402	D	0.87966	-2.32	3.93	3.93	0.45458	.	0.161726	0.26193	N	0.025781	D	0.87111	0.6096	N	0.24115	0.695	0.33424	D	0.580255	D	0.71674	0.998	D	0.79784	0.993	D	0.89399	0.3694	10	0.87932	D	0	.	9.3337	0.38038	0.0:0.0:0.0:1.0	.	15	Q86WI1	PKHL1_HUMAN	Q	15	ENSP00000367655:L15Q	ENSP00000367655:L15Q	L	+	2	0	PKHD1L1	110444029	1.000000	0.71417	0.949000	0.38748	0.047000	0.14425	3.203000	0.51075	1.792000	0.52537	0.254000	0.18369	CTG	PKHD1L1	-	NULL	ENSG00000205038		0.642	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	81	0	T	NM_177531		110374853	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	27.18	75	28	SNP	0.976	A	A	110374853	T	A	110374853	3	1	26	1	0	0	0	0	1	0	0	0	12011	1580	55	5	46	5	PKHD1L1	8	110374853	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	9583776	110374853	35989169	152	6704											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110408258	110408258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtggttttcccccagagGtcaccatgattttcccttca	8	14	7	12	0	2	2	2	1	0	1	4	2	4	2	4	2	0	1	4	2	1	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:110408258G>C	ENST00000378402.5	+	11	918	c.814G>C	c.(814-816)Gtc>Ctc	p.V272L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	272	IPT/TIG 3.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCCAGAGGTCACCATGAT	0.393										HNSCC(38;0.096)																																							0													56	48	51					8																	110408258		1967	4167	6134	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.814G>C	8.37:g.110408258G>C	ENSP00000367655:p.Val272Leu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.V272L	ENST00000378402.5	37	c.814	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	9.648	1.140823	0.21205	.	.	ENSG00000205038	ENST00000378402	T	0.75704	-0.96	5.8	0.864	0.19068	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.321129	0.28151	N	0.016419	T	0.63850	0.2546	L	0.46885	1.475	0.35057	D	0.76117	B	0.14805	0.011	B	0.17979	0.02	T	0.59241	-0.7491	10	0.44086	T	0.13	.	8.8155	0.34993	0.4934:0.0:0.5066:0.0	.	272	Q86WI1	PKHL1_HUMAN	L	272	ENSP00000367655:V272L	ENSP00000367655:V272L	V	+	1	0	PKHD1L1	110477434	1.000000	0.71417	0.758000	0.31321	0.032000	0.12392	0.929000	0.28844	-0.117000	0.11872	-0.792000	0.03331	GTC	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	53	0	G	NM_177531		110408258	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	C	C	110408258	G	C	110408258	3	2	26	1	0	0	0	0	1	0	0	0	12011	1261	44	5	856	5	PKHD1L1	8	110408258	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	33405	110408258	35955764	153	6705											
KCNV1	27012	genome.wustl.edu	37	chr8	110986468	110986468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcctgctgcgagagcacGaagcggctgccgcccacgtt	7	5	14	15	6	0	1	0	0	0	1	0	3	0	1	3	1	6	4	3	1	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:110986468G>A	ENST00000524391.1	-	2	1182	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Silent_p.F50F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	50					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCGAGAGCACGAAGCGGCTGC	0.706																																																	0													9	8	9					8																	110986468		2152	4209	6361	SO:0001819	synonymous_variant	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.150C>T	8.37:g.110986468G>A			Q9UHJ4	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.F50	ENST00000524391.1	37	c.150	CCDS6314.1	8																																																																																			KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv9	ENSG00000164794		0.706	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1		0	39	0	G	NM_014379		110986468	-1			no_errors	ENST00000297404	ensembl	human	known	74_37	silent	22.09	67	19	SNP	0.982	A	A	110986468	G	A	110986468	2	1	26	1	0	0	0	0	0	0	0	1	8121	1049	37	1		1	KCNV1	8	110986468	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	578210	110986468	35377554	154	6706											
CSMD3	114788	genome.wustl.edu	37	chr8	113259322	113259322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgtagacccttggagaagGtgtccttttttgcaatggaa	9	14	12	6	0	0	2	0	0	0	2	1	4	1	3	2	3	1	3	2	3	4	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:113259322G>T	ENST00000297405.5	-	64	10393	c.10149C>A	c.(10147-10149)caC>caA	p.H3383Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.H3343Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3313Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H3214Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3383	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTGGAGAAGGTGTCCTTTTT	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													137	121	127					8																	113259322		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10149C>A	8.37:g.113259322G>T	ENSP00000297405:p.His3383Gln		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3383Q	ENST00000297405.5	37	c.10149	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150406	0.57151	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.79	-0.294	0.12831	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.73598	2.24	0.31968	N	0.607574	B;P;P	0.44734	0.429;0.842;0.584	P;P;B	0.51266	0.533;0.664;0.303	T	0.51052	-0.8754	10	0.87932	D	0	.	10.3975	0.44209	0.5203:0.0:0.4797:0.0	.	3214;3383;3343	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	3343;3383;2653;3214;3313	ENSP00000345799:H3343Q;ENSP00000297405:H3383Q;ENSP00000341558:H2653Q;ENSP00000412263:H3214Q;ENSP00000343124:H3313Q	ENSP00000297405:H3383Q	H	-	3	2	CSMD3	113328498	0.948000	0.32251	0.984000	0.44739	0.710000	0.40934	0.085000	0.14912	-0.162000	0.10964	-0.384000	0.06662	CAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	50	0	G	NM_052900		113259322	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.992	T	T	113259322	G	T	113259322	3	4	26	1	0	0	0	0	1	0	0	0	3955	1252	44	3	1006	3	CSMD3	8	113259322	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2272854	113259322	33104700	155	6707											
ATAD2	29028	genome.wustl.edu	37	chr8	124357292	124357292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatacttggtgctgttctCttagcttcacgaatcaccta	9	15	6	11	1	3	0	2	0	1	0	4	1	3	0	1	1	3	3	1	1	5	7			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:124357292C>G	ENST00000287394.5	-	19	2657	c.2550G>C	c.(2548-2550)aaG>aaC	p.K850N	RNU6-875P_ENST00000516488.1_RNA|ATAD2_ENST00000521903.1_Missense_Mutation_p.K168N|MIR548AA1_ENST00000384971.2_RNA	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	850					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTGCTGTTCTCTTAGCTTCAC	0.373																																																	0													193	166	175					8																	124357292		2203	4300	6503	SO:0001583	missense	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.2550G>C	8.37:g.124357292C>G	ENSP00000287394:p.Lys850Asn		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K850N	ENST00000287394.5	37	c.2550	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177603	0.57692	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	D;D	0.83163	-1.69;-1.69	5.58	2.76	0.32466	.	0.100882	0.64402	D	0.000003	D	0.88596	0.6479	M	0.85373	2.75	0.37723	D	0.924999	D	0.58268	0.982	P	0.56088	0.791	D	0.90484	0.4462	10	0.87932	D	0	-19.4604	11.2259	0.48884	0.0:0.7407:0.0:0.2593	.	850	Q6PL18	ATAD2_HUMAN	N	850;168	ENSP00000287394:K850N;ENSP00000429213:K168N	ENSP00000287394:K850N	K	-	3	2	ATAD2	124426473	0.943000	0.32029	1.000000	0.80357	0.453000	0.32348	0.145000	0.16157	0.705000	0.31890	0.655000	0.94253	AAG	ATAD2	-	superfamily_P-loop_NTPase	ENSG00000156802		0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0	25	0	C	NM_014109		124357292	-1			no_errors	ENST00000287394	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	G	G	124357292	C	G	124357292	3	3	26	1	0	0	0	0	1	0	0	0	1072	912	32	5	1662	5	ATAD2	8	124357292	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	11097970	124357292	22006730	156	6708											
GLI4	2738	genome.wustl.edu	37	chr8	144358109	144358109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccacgctctcctggctCtcaggcccctgacgaggggg	4	7	14	16	2	2	1	1	1	2	0	5	2	3	1	4	5	0	3	4	5	0	0	rs13264624		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:144358109C>G	ENST00000523522.1	+	3	305	c.266C>G	c.(265-267)tCt>tGt	p.S89C	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000340042.1_Missense_Mutation_p.S89C|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	89					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TCTCCTGGCTCTCAGGCCCCT	0.711																																																	0													4	3	3					8																	144358109		1475	2762	4237	SO:0001583	missense	0				CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.266C>G	8.37:g.144358109C>G	ENSP00000430987:p.Ser89Cys		Q96CK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S89C	ENST00000523522.1	37	c.266	CCDS6398.1	8	.	.	.	.	.	.	.	.	.	.	C	10.86	1.469965	0.26423	.	.	ENSG00000250571	ENST00000340042;ENST00000523522	T;T	0.07021	3.23;3.23	3.54	-3.94	0.04130	.	.	.	.	.	T	0.03348	0.0097	N	0.14661	0.345	0.09310	N	1	B	0.31519	0.327	B	0.28232	0.087	T	0.38436	-0.9661	9	0.49607	T	0.09	.	0.1352	0.00078	0.3043:0.2332:0.1501:0.3124	rs13264624	89	P10075	GLI4_HUMAN	C	89	ENSP00000345024:S89C;ENSP00000430987:S89C	ENSP00000345024:S89C	S	+	2	0	GLI4	144429484	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.055000	0.03493	-0.647000	0.05444	-0.379000	0.06801	TCT	GLI4	-	NULL	ENSG00000250571		0.711	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI4	HGNC	protein_coding	OTTHUMT00000381128.2	-	0	17	0	C			144358109	1	tier1	rs13264624	no_errors	ENST00000340042	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.000	G	G	144358109	C	G	144358109	3	3	26	1	0	0	0	0	1	0	0	0	6466	913	32	5	276	5	GLI4	8	144358109	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	20000817	144358109	2005913	157	6709											
GLI4	2738	genome.wustl.edu	37	chr8	144358344	144358344	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggctgccgagctgggagtCaacttcggtcggagccggca	6	6	17	12	5	1	0	1	0	0	0	3	3	1	2	2	5	4	3	2	5	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:144358344C>G	ENST00000523522.1	+	3	540	c.501C>G	c.(499-501)gtC>gtG	p.V167V	ZFP41_ENST00000522452.1_3'UTR|GLI4_ENST00000340042.1_Silent_p.V167V|GLI4_ENST00000523812.1_3'UTR			P10075	GLI4_HUMAN	GLI family zinc finger 4	167					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGCTGGGAGTCAACTTCGGTC	0.726																																																	0													3	4	3					8																	144358344		1927	3896	5823	SO:0001819	synonymous_variant	0				CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.501C>G	8.37:g.144358344C>G			Q96CK9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V167	ENST00000523522.1	37	c.501	CCDS6398.1	8																																																																																			GLI4	-	NULL	ENSG00000250571		0.726	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI4	HGNC	protein_coding	OTTHUMT00000381128.2	-	0	24	0	C			144358344	1	tier1	-	no_errors	ENST00000340042	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.001	G	G	144358344	C	G	144358344	2	3	26	1	0	0	0	0	0	0	0	1	6466	813	29	5		5	GLI4	8	144358344	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	235	144358344	2005678	158	6710											
PLEC	5339	genome.wustl.edu	37	chr8	144995124	144995124	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgatgatgatcttgatGatcttctccactgtgatccg	8	14	9	10	2	3	6	0	6	3	0	5	6	4	6	3	0	0	0	3	0	0	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:144995124G>T	ENST00000322810.4	-	32	9445	c.9276C>A	c.(9274-9276)atC>atA	p.I3092I	PLEC_ENST00000398774.2_Silent_p.I2923I|PLEC_ENST00000354589.3_Silent_p.I2955I|PLEC_ENST00000356346.3_Silent_p.I2941I|PLEC_ENST00000527096.1_Silent_p.I2978I|PLEC_ENST00000345136.3_Silent_p.I2955I|PLEC_ENST00000354958.2_Silent_p.I2933I|PLEC_ENST00000357649.2_Silent_p.I2959I|PLEC_ENST00000436759.2_Silent_p.I2982I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3092	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGATCTTGATGATCTTCTCCA	0.612																																																	0													33	38	36					8																	144995124		2095	4210	6305	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9276C>A	8.37:g.144995124G>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.I3092	ENST00000322810.4	37	c.9276	CCDS43772.1	8																																																																																			PLEC	-	NULL	ENSG00000178209		0.612	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0	24	0	G	NM_000445		144995124	-1			no_errors	ENST00000322810	ensembl	human	known	74_37	silent	11.11	40	5	SNP	1.000	T	T	144995124	G	T	144995124	2	4	26	1	0	0	0	0	0	0	0	1	12091	1280	45	3		3	PLEC	8	144995124	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	636780	144995124	1368898	159	6711											
PLEC	5339	genome.wustl.edu	37	chr8	144997022	144997022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggaagccctgcgtctcctCcgccagctgctgcgccatct	4	9	10	18	3	2	0	0	0	2	0	4	1	3	1	5	1	5	2	5	1	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:144997022C>T	ENST00000322810.4	-	31	7655	c.7486G>A	c.(7486-7488)Gag>Aag	p.E2496K	PLEC_ENST00000398774.2_Missense_Mutation_p.E2327K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2359K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2345K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2382K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2359K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2337K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2363K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2386K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2496	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCGTCTCCTCCGCCAGCTGC	0.687																																																	0													6	7	7					8																	144997022		2163	4250	6413	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7486G>A	8.37:g.144997022C>T	ENSP00000323856:p.Glu2496Lys		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2496K	ENST00000322810.4	37	c.7486	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	9.239	1.037684	0.19669	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.76578	-1.0;-1.0;-1.03;-1.03;-1.01;-1.0;-0.99;-1.0;-1.0	5.15	0.896	0.19253	.	0.413845	0.20668	U	0.087898	T	0.74061	0.3667	L	0.55990	1.75	0.28866	N	0.89526	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.67063	-0.5765	10	0.52906	T	0.07	.	18.6109	0.91285	0.0:0.7465:0.2535:0.0	.	2386;2345;2337;2496;2327;2359;2363;2359	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2359;2363;2359;2327;2496;2337;2345;2386;2382	ENSP00000344848:E2359K;ENSP00000350277:E2363K;ENSP00000346602:E2359K;ENSP00000381756:E2327K;ENSP00000323856:E2496K;ENSP00000347044:E2337K;ENSP00000348702:E2345K;ENSP00000388180:E2386K;ENSP00000434583:E2382K	ENSP00000323856:E2496K	E	-	1	0	PLEC	145069010	0.486000	0.25980	0.260000	0.24451	0.894000	0.52154	0.891000	0.28309	0.170000	0.19704	-0.290000	0.09829	GAG	PLEC	-	NULL	ENSG00000178209		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	39	0	C	NM_000445		144997022	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.079	T	T	144997022	C	T	144997022	3	4	26	1	0	0	0	0	1	0	0	0	12091	864	30	3	6576	3	PLEC	8	144997022	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1898	144997022	1367000	160	6712											
SLC39A4	55630	genome.wustl.edu	37	chr8	145637923	145637923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggactagggcagggtatCagaaggtgatgtcatcctcg	9	8	17	7	1	2	2	2	1	0	1	4	3	3	3	1	5	0	2	1	5	3	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr8:145637923C>T	ENST00000301305.3	-	12	2048	c.1943G>A	c.(1942-1944)tGa>tAa	p.*648*	SLC39A4_ENST00000276833.5_Silent_p.*623*|SLC39A4_ENST00000531013.1_5'UTR|GS1-393G12.14_ENST00000607491.1_RNA	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	0					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGCAGGGTATCAGAAGGTGAT	0.607																																																	0													160	167	165					8																	145637923		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1943G>A	8.37:g.145637923C>T			Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	pfam_ZIP	p.*648	ENST00000301305.3	37	c.1943	CCDS6424.1	8																																																																																			SLC39A4	-	NULL	ENSG00000147804		0.607	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A4	HGNC	protein_coding	OTTHUMT00000382688.1	-	0	108	0	C			145637923	-1	tier1	-	no_errors	ENST00000301305	ensembl	human	known	74_37	silent	7.00	186	14	SNP	0.998	T	T	145637923	C	T	145637923	2	4	26	1	0	0	0	0	0	0	0	1	14665	837	29	3		3	SLC39A4	8	145637923	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	640901	145637923	726099	161	6713											
KANK1	23189	genome.wustl.edu	37	chr9	710812	710812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctcttctaggaaaagcaGgtgatattctcagtggagac	11	11	10	9	0	3	2	1	1	3	1	5	4	4	3	1	3	1	1	1	3	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:710812G>T	ENST00000382303.1	+	7	698	c.46G>T	c.(46-48)Ggt>Tgt	p.G16C	KANK1_ENST00000382293.3_5'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.G16C|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	16					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AGGAAAAGCAGGTGATATTCT	0.383																																																	0													86	90	89					9																	710812		2203	4300	6503	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.46G>T	9.37:g.710812G>T	ENSP00000371740:p.Gly16Cys		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G16C	ENST00000382303.1	37	c.46	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	7.387	0.629912	0.14257	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297	T;T	0.38887	1.11;1.11	5.95	4.12	0.48240	.	0.413716	0.20992	N	0.082010	T	0.33000	0.0848	L	0.34521	1.04	0.80722	D	1	P;P	0.47106	0.69;0.89	B;B	0.39971	0.215;0.315	T	0.09840	-1.0656	10	0.59425	D	0.04	-0.4094	12.7036	0.57046	0.1333:0.0:0.8667:0.0	.	16;16	Q5W0W1;Q14678	.;KANK1_HUMAN	C	16	ENSP00000371740:G16C;ENSP00000371734:G16C	ENSP00000346479:G16C	G	+	1	0	KANK1	700812	1.000000	0.71417	0.772000	0.31596	0.215000	0.24574	2.919000	0.48836	0.858000	0.35431	0.655000	0.94253	GGT	KANK1	-	NULL	ENSG00000107104		0.383	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0	90	0	G	NM_015158		710812	1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.896	T	T	710812	G	T	710812	3	4	26	1	0	0	0	0	1	0	0	0	8003	1000	35	3	52	3	KANK1	9	710812	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		710812	140502619	162	6714											
TLN1	7094	genome.wustl.edu	37	chr9	35706804	35706804	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggggagcaagctgctggctGactgcagcgagggaagcctg	8	5	18	10	2	0	1	0	1	0	0	0	4	0	3	1	4	6	5	1	4	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:35706804G>C	ENST00000314888.9	-	38	5402	c.5049C>G	c.(5047-5049)gtC>gtG	p.V1683V	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.V1683V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1683	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCTGGCTGACTGCAGCGA	0.537																																																	0													89	95	93					9																	35706804		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5049C>G	9.37:g.35706804G>C			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.V1683	ENST00000314888.9	37	c.5049	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.537	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2		0	23	0	G	NM_006289		35706804	-1			no_errors	ENST00000314888	ensembl	human	known	74_37	silent	20.00	16	4	SNP	1.000	C	C	35706804	G	C	35706804	2	2	26	1	0	0	0	0	0	0	0	1	15994	1277	45	5		5	TLN1	9	35706804	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	34995992	35706804	105506627	163	6715											
NANS	54187	genome.wustl.edu	37	chr9	100840628	100840628	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcaacctgcgggtcatctCggtgagcaggagggaggggg	7	6	19	9	3	3	1	2	1	1	0	4	3	3	3	1	6	3	1	1	6	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:100840628C>T	ENST00000210444.5	+	4	672	c.602C>T	c.(601-603)tCg>tTg	p.S201L	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'Flank|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	201					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				CGGGTCATCTCGGTGAGCAGG	0.502																																																	0													115	102	107					9																	100840628		2203	4300	6503	SO:0001630	splice_region_variant	0			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.603+1C>T	9.37:g.100840628C>T			B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	p.S201L	ENST00000210444.5	37	c.602	CCDS6733.1	9	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780732	0.49891	.	.	ENSG00000095380	ENST00000210444;ENST00000415280;ENST00000427646	T;T;T	0.43688	0.94;0.94;0.94	5.33	5.33	0.75918	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.320649	0.35936	N	0.002898	T	0.29256	0.0728	N	0.25647	0.755	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.06534	-1.0821	10	0.23891	T	0.37	-1.6073	11.996	0.53204	0.1728:0.8272:0.0:0.0	.	37;201	E9PGK0;Q9NR45	.;SIAS_HUMAN	L	201;60;9	ENSP00000210444:S201L;ENSP00000404107:S60L;ENSP00000404642:S9L	ENSP00000210444:S201L	S	+	2	0	NANS	99880449	0.994000	0.37717	1.000000	0.80357	0.973000	0.67179	2.402000	0.44521	2.679000	0.91253	0.650000	0.86243	TCG	NANS	-	pfam_Neu5Ac_N	ENSG00000095380		0.502	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANS	HGNC	protein_coding	OTTHUMT00000053359.1	-	0	49	0	C	NM_018946	Missense_Mutation	100840628	1	tier1	-	no_errors	ENST00000210444	ensembl	human	known	74_37	missense	58.54	17	24	SNP	1.000	T	T	100840628	C	T	100840628	5	4	26	1	0	0	0	0	0	0	1	0	10193	898	31	1	616	1	NANS	9	100840628	Splice_Site	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	65133824	100840628	40372803	164	6716											
OR13C9	286362	genome.wustl.edu	37	chr9	107379583	107379583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactgcctctttcacatcCttgtttctaagactgtagat	8	18	5	10	0	3	2	1	0	2	2	4	2	4	2	2	0	2	2	2	0	3	7			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:107379583C>T	ENST00000259362.1	-	1	902	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CTTTCACATCCTTGTTTCTAA	0.378																																																	0													178	172	174					9																	107379583		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.903G>A	9.37:g.107379583C>T			Q6IFL2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K301	ENST00000259362.1	37	c.903	CCDS35093.1	9																																																																																			OR13C9	-	prints_GPCR_Rhodpsn	ENSG00000136839		0.378	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	-	0	110	0	C			107379583	-1	tier1	-	no_errors	ENST00000259362	ensembl	human	known	74_37	silent	36.29	79	45	SNP	1.000	T	T	107379583	C	T	107379583	2	4	26	1	0	0	0	0	0	0	0	1	10978	680	24	3		3	OR13C9	9	107379583	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	6538955	107379583	33833848	165	6717											
NUP188	23511	genome.wustl.edu	37	chr9	131748958	131748958	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagtgagggaacagattgGtaaggacagcatgggcaggg	12	6	19	4	0	0	2	0	1	0	1	0	5	0	5	0	6	2	3	0	6	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:131748958G>T	ENST00000372577.2	+	21	2218		c.e21+1			NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAACAGATTGGTAAGGACAGC	0.502																																																	0													150	139	142					9																	131748958		2203	4300	6503	SO:0001630	splice_region_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2197+1G>T	9.37:g.131748958G>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	-	e21+1	ENST00000372577.2	37	c.2197+1	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239860	0.79912	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2117	0.89872	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP188	130788779	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.182000	0.94881	2.611000	0.88343	0.491000	0.48974	.	NUP188	-	-	ENSG00000095319		0.502	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2		0	76	0	G		Intron	131748958	1			no_errors	ENST00000372577	ensembl	human	known	74_37	splice_site	5.80	64	4	SNP	1.000	T	T	131748958	G	T	131748958	5	4	26	1	0	0	0	0	0	0	1	0	10797	1275	44	3	2280	3	NUP188	9	131748958	Splice_Site	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	24369375	131748958	9464473	166	6718											
NTNG2	84628	genome.wustl.edu	37	chr9	135073473	135073473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactggcagagcatcaccTggagccgctaccccagcccg	8	5	10	18	2	1	1	1	0	0	1	1	2	1	2	6	2	5	3	6	2	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:135073473T>C	ENST00000393229.3	+	3	1110	c.334T>C	c.(334-336)Tgg>Cgg	p.W112R	NTNG2_ENST00000360670.3_Missense_Mutation_p.W112R|NTNG2_ENST00000372179.3_Missense_Mutation_p.W112R|NTNG2_ENST00000393228.4_Missense_Mutation_p.W112R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	112	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GAGCATCACCTGGAGCCGCTA	0.642																																																	0													73	66	68					9																	135073473		2203	4300	6503	SO:0001583	missense	0			AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"Netrins"	14288	protein-coding gene	gene with protein product	"Netrin-G2"		"netrin G1"	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.334T>C	9.37:g.135073473T>C	ENSP00000376921:p.Trp112Arg		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.W112R	ENST00000393229.3	37	c.334	CCDS6946.1	9	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016695	0.75161	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;D;D;T	0.86769	-0.12;-2.17;-2.17;-0.12	5.13	5.13	0.70059	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92512	0.7622	M	0.72118	2.19	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	D	0.93267	0.6648	10	0.72032	D	0.01	.	14.1188	0.65172	0.0:0.0:0.0:1.0	.	112	Q96CW9	NTNG2_HUMAN	R	112	ENSP00000376921:W112R;ENSP00000376920:W112R;ENSP00000353888:W112R;ENSP00000361252:W112R	ENSP00000353888:W112R	W	+	1	0	NTNG2	134063294	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	7.998000	0.88491	1.929000	0.55896	0.459000	0.35465	TGG	NTNG2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000196358		0.642	NTNG2-001	KNOWN	basic|CCDS	protein_coding	NTNG2	HGNC	protein_coding	OTTHUMT00000054779.1	-	0	54	0	T	NM_032536		135073473	1	tier1	-	no_errors	ENST00000360670	ensembl	human	known	74_37	missense	44.93	38	31	SNP	0.999	C	C	135073473	T	C	135073473	3	2	26	1	0	0	0	0	1	0	0	0	10744	1580	55	4	340	4	NTNG2	9	135073473	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	3324515	135073473	6139958	167	6719											
TSC1	7248	genome.wustl.edu	37	chr9	135787825	135787825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcgatcacaacatcatGagtttctaatctcttccacc	12	12	3	14	1	4	1	2	1	2	0	7	2	5	1	2	0	1	1	2	0	2	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:135787825G>T	ENST00000298552.3	-	9	978	c.757C>A	c.(757-759)Cat>Aat	p.H253N	TSC1_ENST00000440111.2_Missense_Mutation_p.H253N|TSC1_ENST00000545250.1_Missense_Mutation_p.H202N|TSC1_ENST00000403810.1_Missense_Mutation_p.H253N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	253					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		ACAACATCATGAGTTTCTAAT	0.418			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											123	105	111					9																	135787825		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.757C>A	9.37:g.135787825G>T	ENSP00000298552:p.His253Asn		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.H253N	ENST00000298552.3	37	c.757	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859483	0.91433	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	M	0.83603	2.65	0.80722	D	1	D;D;P;D;P;D	0.76494	0.999;0.989;0.852;0.981;0.956;0.976	D;D;P;P;D;D	0.87578	0.998;0.944;0.539;0.852;0.955;0.924	D	0.95026	0.8165	10	0.66056	D	0.02	-14.9842	18.9865	0.92773	0.0:0.0:1.0:0.0	.	132;202;253;253;253;253	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	N	253;253;202;132;132;253	ENSP00000298552:H253N;ENSP00000394524:H253N;ENSP00000444017:H202N;ENSP00000438099:H132N;ENSP00000386093:H253N	ENSP00000298552:H253N	H	-	1	0	TSC1	134777646	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.724000	0.93272	0.561000	0.74099	CAT	TSC1	-	pfam_Hamartin	ENSG00000165699		0.418	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0	62	0	G			135787825	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	55.81	19	24	SNP	1.000	T	T	135787825	G	T	135787825	3	4	26	1	0	0	0	0	1	0	0	0	16653	1290	45	3	2797	3	TSC1	9	135787825	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	714352	135787825	5425606	168	6720											
INPP5E	56623	genome.wustl.edu	37	chr9	139327500	139327500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgatctgagacacgatgCgtgtggtcaccgtggagcac	8	10	13	10	3	3	2	1	2	2	1	3	5	3	3	1	2	2	1	1	2	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr9:139327500C>T	ENST00000371712.3	-	5	1589	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AGACACGATGCGTGTGGTCAC	0.612																																																	0													167	152	157					9																	139327500		2202	4300	6502	SO:0001583	missense	0			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1187G>A	9.37:g.139327500C>T	ENSP00000360777:p.Arg396His		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.R396H	ENST00000371712.3	37	c.1187	CCDS7000.1	9	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815134	0.90790	.	.	ENSG00000148384	ENST00000371712	D	0.95307	-3.67	4.88	4.88	0.63580	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.97767	1.0224	10	0.45353	T	0.12	-27.325	17.3863	0.87416	0.0:1.0:0.0:0.0	.	362;396	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	H	396	ENSP00000360777:R396H	ENSP00000360777:R396H	R	-	2	0	INPP5E	138447321	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.204000	0.77872	2.423000	0.82170	0.561000	0.74099	CGC	INPP5E	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000148384		0.612	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1	-	0	42	0	C	NM_019892		139327500	-1	tier1	-	no_errors	ENST00000371712	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	T	T	139327500	C	T	139327500	3	4	26	1	0	0	0	0	1	0	0	0	7784	768	27	1	771	1	INPP5E	9	139327500	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3539675	139327500	1885931	169	6721											
OPTN	10133	genome.wustl.edu	37	chr10	13174166	13174166	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctggcagttctgctgAaagagaatgatgctttcgaa	11	11	12	7	1	1	3	0	2	1	1	2	5	1	3	0	1	4	6	0	1	3	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:13174166A>G	ENST00000378748.3	+	14	1863	c.1501A>G	c.(1501-1503)Aaa>Gaa	p.K501E	OPTN_ENST00000378747.3_Missense_Mutation_p.K501E|OPTN_ENST00000378752.3_Missense_Mutation_p.K495E|OPTN_ENST00000378764.2_Missense_Mutation_p.K495E|OPTN_ENST00000263036.5_Missense_Mutation_p.K501E|OPTN_ENST00000378757.2_Missense_Mutation_p.K501E	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	501	Interaction with HD.|Interaction with MYO6.				cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTTCTGCTGAAAGAGAATGA	0.483																																																	0													113	109	110					10																	13174166		2203	4300	6503	SO:0001583	missense	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.1501A>G	10.37:g.13174166A>G	ENSP00000368022:p.Lys501Glu		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.K501E	ENST00000378748.3	37	c.1501	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	A	17.99	3.524051	0.64747	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28	6.17	6.17	0.99709	.	0.039861	0.85682	D	0.000000	D	0.87446	0.6179	M	0.64997	1.995	0.50632	D	0.999888	P;P	0.48589	0.912;0.857	P;B	0.47430	0.547;0.345	D	0.86963	0.2093	10	0.42905	T	0.14	-37.4418	11.7532	0.51859	0.853:0.147:0.0:0.0	.	495;501	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	E	501;495;501;495;501;501	ENSP00000263036:K501E;ENSP00000368040:K495E;ENSP00000368032:K501E;ENSP00000368027:K495E;ENSP00000368022:K501E;ENSP00000368021:K501E	ENSP00000263036:K501E	K	+	1	0	OPTN	13214172	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	4.618000	0.61211	2.371000	0.80710	0.533000	0.62120	AAA	OPTN	-	NULL	ENSG00000123240		0.483	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	-	0	39	0	A	NM_021980		13174166	1	tier1	-	no_errors	ENST00000263036	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	G	G	13174166	A	G	13174166	3	3	26	1	0	0	0	0	1	0	0	0	10928	247	9	4	1543	4	OPTN	10	13174166	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09		13174166	122360581	170	6722											
SPAG6	9576	genome.wustl.edu	37	chr10	22690153	22690153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccagcccttgaaccatttCtatatgatgctcctcccaat	10	13	4	14	0	1	2	0	2	1	0	3	2	3	2	5	0	4	1	5	0	5	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:22690153C>G	ENST00000376624.3	+	9	1403	c.1261C>G	c.(1261-1263)Cta>Gta	p.L421V	SPAG6_ENST00000376603.2_Missense_Mutation_p.L497V|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Missense_Mutation_p.L421V|SPAG6_ENST00000538630.1_Missense_Mutation_p.L396V|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.L182V	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	421					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGAACCATTTCTATATGATGC	0.353																																																	0													107	101	103					10																	22690153		2203	4300	6503	SO:0001583	missense	0			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1261C>G	10.37:g.22690153C>G	ENSP00000365811:p.Leu421Val		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.L497V	ENST00000376624.3	37	c.1489	CCDS7139.1	10	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821293	0.71028	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.04;-0.27;-0.04;-0.27	5.11	3.23	0.37069	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	M	0.75264	2.295	0.54753	D	0.999988	P;P;P;P	0.43477	0.546;0.808;0.675;0.736	B;P;B;B	0.46452	0.2;0.517;0.365;0.2	T	0.74680	-0.3584	10	0.59425	D	0.04	-14.2001	11.6826	0.51466	0.0:0.8679:0.0:0.1321	.	396;497;421;421	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	V	421;497;182;396;182;421	ENSP00000365811:L421V;ENSP00000365788:L497V;ENSP00000365786:L182V;ENSP00000441325:L396V;ENSP00000411111:L182V;ENSP00000323599:L421V	ENSP00000323599:L421V	L	+	1	2	SPAG6	22730159	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.055000	0.49916	2.385000	0.81259	0.650000	0.86243	CTA	SPAG6	-	superfamily_ARM-type_fold	ENSG00000077327		0.353	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1		0	35	0	C			22690153	1			no_errors	ENST00000376603	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	22690153	C	G	22690153	3	3	26	1	0	0	0	0	1	0	0	0	15029	912	32	5	1295	5	SPAG6	10	22690153	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	9515987	22690153	112844594	171	6723											
YME1L1	10730	genome.wustl.edu	37	chr10	27434388	27434388	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaagaaggattgtgcagaGacatgggatgtatgccaatg	14	9	13	5	0	1	2	1	0	0	2	1	5	1	4	1	2	2	2	1	2	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:27434388G>C	ENST00000326799.3	-	4	619	c.471C>G	c.(469-471)gtC>gtG	p.V157V	YME1L1_ENST00000376016.3_Silent_p.V100V|YME1L1_ENST00000477432.1_3'UTR|YME1L1_ENST00000375972.3_Silent_p.V100V	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	157					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTGTGCAGAGACATGGGATG	0.303																																																	0													80	83	82					10																	27434388		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.471C>G	10.37:g.27434388G>C			B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.V157	ENST00000326799.3	37	c.471	CCDS7152.1	10																																																																																			YME1L1	-	NULL	ENSG00000136758		0.303	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	HGNC	protein_coding	OTTHUMT00000047306.1	-	0	26	0	G	NM_139312		27434388	-1	tier1	-	no_errors	ENST00000326799	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.795	C	C	27434388	G	C	27434388	2	2	26	1	0	0	0	0	0	0	0	1	17536	929	33	5		5	YME1L1	10	27434388	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4744235	27434388	108100359	172	6724											
ZEB1	6935	genome.wustl.edu	37	chr10	31809970	31809970	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaagctgagaagccTgagtcctctgtttcatcagc	10	9	11	11	0	3	3	2	2	1	2	4	4	4	3	2	0	4	4	2	0	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:31809970T>C	ENST00000320985.10	+	7	1817	c.1707T>C	c.(1705-1707)ccT>ccC	p.P569P	ZEB1_ENST00000446923.2_Silent_p.P553P|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Silent_p.P502P|ZEB1_ENST00000361642.5_Silent_p.P570P|ZEB1_ENST00000560721.2_Silent_p.P549P			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	569					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTGAGAAGCCTGAGTCCTCTG	0.448																																					Ovarian(40;423 959 14296 36701 49589)												0													74	73	74					10																	31809970		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1707T>C	10.37:g.31809970T>C			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P570	ENST00000320985.10	37	c.1710	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0	33	0	T	NM_030751		31809970	1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	silent	13.89	31	5	SNP	0.789	C	C	31809970	T	C	31809970	2	2	26	1	0	0	0	0	0	0	0	1	17671	1567	55	4		4	ZEB1	10	31809970	Silent	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	4375582	31809970	103724777	173	6725											
PARD3	56288	genome.wustl.edu	37	chr10	34626223	34626223	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacctaaatccatgctttttGattttcgtgttttaacgaaa	11	18	5	7	2	0	1	0	1	0	0	2	2	1	1	2	0	3	2	2	0	5	8			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:34626223G>C	ENST00000374789.3	-	17	2874	c.2549C>G	c.(2548-2550)tCa>tGa	p.S850*	PARD3_ENST00000374773.1_Intron|PARD3_ENST00000466092.1_5'Flank|PARD3_ENST00000544292.1_Nonsense_Mutation_p.S564*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.S850*|PARD3_ENST00000350537.4_Intron|PARD3_ENST00000340077.5_Nonsense_Mutation_p.S847*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.S790*|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000545693.1_Nonsense_Mutation_p.S834*|PARD3_ENST00000374776.1_Intron|PARD3_ENST00000374794.3_Nonsense_Mutation_p.S790*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.S847*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	850	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CATGCTTTTTGATTTTCGTGT	0.353																																																	0													108	98	101					10																	34626223		2203	4300	6503	SO:0001587	stop_gained	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2549C>G	10.37:g.34626223G>C	ENSP00000363921:p.Ser850*		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S850*	ENST00000374789.3	37	c.2549	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	44	10.930267	0.99490	.	.	ENSG00000148498	ENST00000545693;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000374790;ENST00000340077;ENST00000544292	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.1237	0.97972	0.0:0.0:1.0:0.0	.	.	.	.	X	834;850;847;850;790;790;847;564	.	ENSP00000341844:S847X	S	-	2	0	PARD3	34666229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.759000	0.94783	0.561000	0.74099	TCA	PARD3	-	NULL	ENSG00000148498		0.353	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0	24	0	G	NM_019619		34626223	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	nonsense	37.50	25	15	SNP	1.000	C	C	34626223	G	C	34626223	4	2	26	1	0	0	0	0	0	1	0	0	11482	1294	45	5	1592	5	PARD3	10	34626223	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2816253	34626223	100908524	174	6726											
PLAC9	219348	genome.wustl.edu	37	chr10	81904016	81904016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacctggggacagaggTgaaaggcctgctgggcctgc	8	6	17	10	0	1	2	1	1	0	1	1	4	1	4	3	6	2	1	3	6	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:81904016T>C	ENST00000372263.3	+	3	242	c.200T>C	c.(199-201)gTg>gCg	p.V67A	PLAC9_ENST00000372267.2_Intron|PLAC9_ENST00000372270.2_Missense_Mutation_p.V25A	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	67						extracellular region (GO:0005576)				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			GGGACAGAGGTGAAAGGCCTG	0.617											OREG0020321	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82	72	75					10																	81904016		2203	4300	6503	SO:0001583	missense	0				CCDS31232.1	10q23.2	2008-02-04			ENSG00000189129	ENSG00000189129			19255	protein-coding gene	gene with protein product		612857					Standard	NM_001012973		Approved		uc001kbp.1	Q5JTB6	OTTHUMG00000018596	ENST00000372263.3:c.200T>C	10.37:g.81904016T>C	ENSP00000361337:p.Val67Ala	1209		Missense_Mutation	SNP	NULL	p.V67A	ENST00000372263.3	37	c.200	CCDS31232.1	10	.	.	.	.	.	.	.	.	.	.	T	13.30	2.194787	0.38806	.	.	ENSG00000189129	ENST00000372270;ENST00000372263	.	.	.	3.78	3.78	0.43462	.	0.197615	0.25222	N	0.032225	T	0.46112	0.1376	.	.	.	0.20196	N	0.99993	D	0.64830	0.994	P	0.51833	0.681	T	0.37842	-0.9688	8	0.72032	D	0.01	.	9.1287	0.36833	0.0:0.0:0.0:1.0	.	67	Q5JTB6	PLAC9_HUMAN	A	25;67	.	ENSP00000361337:V67A	V	+	2	0	PLAC9	81893996	1.000000	0.71417	0.267000	0.24556	0.064000	0.16182	3.150000	0.50662	1.727000	0.51537	0.381000	0.24937	GTG	PLAC9	-	NULL	ENSG00000189129		0.617	PLAC9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLAC9	HGNC	protein_coding	OTTHUMT00000049019.1	-	0	64	0	T	NM_001012973		81904016	1	tier1	-	no_errors	ENST00000372263	ensembl	human	known	74_37	missense	9.52	75	8	SNP	0.477	C	C	81904016	T	C	81904016	3	2	26	1	0	0	0	0	1	0	0	0	12056	1696	59	4	210	4	PLAC9	10	81904016	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	47277793	81904016	53630731	175	6727											
KIF20B	9585	genome.wustl.edu	37	chr10	91492754	91492754	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcaaatctaaaatctgttCagaaagaaaaagagtaaatg	21	8	7	5	0	3	3	1	0	2	3	3	3	3	3	0	0	1	3	0	0	8	3	rs144738424		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:91492754C>G	ENST00000371728.3	+	19	2551	c.2486C>G	c.(2485-2487)tCa>tGa	p.S829*	KIF20B_ENST00000416354.1_Nonsense_Mutation_p.S829*|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.S829*|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.S789*	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	829					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAATCTGTTCAGAAAGAAAA	0.348																																																	0								C	stop/SER	1,4405	2.1+/-5.4	0,1,2202	61	63	63		2366	0.3	0.8	10	dbSNP_134	63	0,8600		0,0,4300	yes	stop-gained	KIF20B	NM_016195.2		0,1,6502	GG,GC,CC		0.0,0.0227,0.0077		789/1781	91492754	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.2486C>G	10.37:g.91492754C>G	ENSP00000360793:p.Ser829*		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S829*	ENST00000371728.3	37	c.2486		10	.	.	.	.	.	.	.	.	.	.	C	38	7.043871	0.98025	2.27E-4	0.0	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.08	0.294	0.15747	.	0.380523	0.19342	N	0.116629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-0.0626	4.0491	0.09786	0.1589:0.4312:0.0:0.4099	.	.	.	.	X	789;829;829;829	.	ENSP00000260753:S789X	S	+	2	0	KIF20B	91482734	0.032000	0.19561	0.787000	0.31911	0.929000	0.56500	-0.093000	0.11111	0.115000	0.18071	0.655000	0.94253	TCA	KIF20B	-	NULL	ENSG00000138182		0.348	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	24	0	C	NM_016195		91492754	1	tier1	rs144738424	no_errors	ENST00000416354	ensembl	human	known	74_37	nonsense	27.27	16	6	SNP	0.131	G	G	91492754	C	G	91492754	4	3	26	1	0	0	0	0	0	1	0	0	8314	838	29	5	2436	5	KIF20B	10	91492754	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	9588738	91492754	44041993	176	6728											
ALDH18A1	5832	genome.wustl.edu	37	chr10	97373617	97373617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattcacatttagagtctCtgactgaaagaagatgagca	15	11	9	6	0	2	6	1	3	1	3	3	7	2	6	0	0	1	1	0	0	4	4	rs543845150		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:97373617C>A	ENST00000371224.2	-	15	1942	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R600I	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	602	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TTTAGAGTCTCTGACTGAAAG	0.423																																																	0													146	150	148					10																	97373617		2203	4300	6503	SO:0001583	missense	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"Aldehyde dehydrogenases"	9722	protein-coding gene	gene with protein product		138250	"pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1805G>T	10.37:g.97373617C>A	ENSP00000360268:p.Arg602Ile		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.R602I	ENST00000371224.2	37	c.1805	CCDS7443.1	10	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279149	0.23307	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.74421	-0.84;-0.84	5.56	5.56	0.83823	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	N	0.05592	-0.015	0.80722	D	1	B;B	0.12630	0.006;0.005	B;B	0.21151	0.033;0.02	T	0.53711	-0.8400	10	0.02654	T	1	-16.7503	17.0314	0.86462	0.0:1.0:0.0:0.0	.	602;600	P54886;P54886-2	P5CS_HUMAN;.	I	602;600	ENSP00000360268:R602I;ENSP00000360265:R600I	ENSP00000360265:R600I	R	-	2	0	ALDH18A1	97363607	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.503000	0.60407	2.620000	0.88729	0.655000	0.94253	AGA	ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.423	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1	-	0	53	0	C	NM_002860		97373617	-1	tier1	-	no_errors	ENST00000371224	ensembl	human	known	74_37	missense	16.22	62	12	SNP	1.000	A	A	97373617	C	A	97373617	3	1	26	1	0	0	0	0	1	0	0	0	489	913	32	3	598	3	ALDH18A1	10	97373617	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5880863	97373617	38161130	177	6729											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133930673	133930673	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttgctcacggagctcaaGacaaagctgcacgaggagaa	13	6	12	10	2	3	2	2	0	1	2	3	5	3	3	0	2	4	4	0	2	3	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:133930673G>C	ENST00000298622.4	+	2	366	c.228G>C	c.(226-228)aaG>aaC	p.K76N		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	76						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGGAGCTCAAGACAAAGCTGC	0.577																																																	0													50	58	55					10																	133930673		2195	4296	6491	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.228G>C	10.37:g.133930673G>C	ENSP00000298622:p.Lys76Asn		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.K76N	ENST00000298622.4	37	c.228	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414714	0.42817	.	.	ENSG00000188385	ENST00000298622	T	0.09445	2.98	4.53	2.49	0.30216	.	0.051702	0.85682	D	0.000000	T	0.25158	0.0611	M	0.64170	1.965	0.25682	N	0.985782	D	0.89917	1.0	D	0.85130	0.997	T	0.01323	-1.1385	10	0.45353	T	0.12	-39.6689	9.0575	0.36414	0.2587:0.0:0.7413:0.0	.	76	Q5VZ66	JKIP3_HUMAN	N	76	ENSP00000298622:K76N	ENSP00000298622:K76N	K	+	3	2	JAKMIP3	133780663	1.000000	0.71417	0.963000	0.40424	0.439000	0.31926	1.369000	0.34227	1.121000	0.41925	0.491000	0.48974	AAG	JAKMIP3	-	NULL	ENSG00000188385		0.577	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0	24	0	G	NM_194303		133930673	1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.990	C	C	133930673	G	C	133930673	3	2	26	1	0	0	0	0	1	0	0	0	7969	933	33	5	234	5	JAKMIP3	10	133930673	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	36557056	133930673	1604074	178	6730											
VENTX	27287	genome.wustl.edu	37	chr10	135053603	135053603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttgggcacccctgtcCgggccccaggctctgatgct	3	9	12	17	1	1	1	0	1	1	0	2	1	2	1	6	3	2	3	6	3	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr10:135053603C>T	ENST00000325980.9	+	3	1081	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	190					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CACCCCTGTCCGGGCCCCAGG	0.667																																																	0													27	30	29					10																	135053603		2203	4298	6501	SO:0001819	synonymous_variant	0			AF068006	CCDS7675.1	10q26.3	2011-06-20	2011-06-01	2005-09-27	ENSG00000151650	ENSG00000151650		"Homeoboxes / ANTP class : NKL subclass"	13639	protein-coding gene	gene with protein product		607158	"VENT-like homeobox 2", "VENT homeobox homolog (Xenopus laevis)"	VENTX2		10790436	Standard	NM_014468		Approved	HPX42B	uc010quy.1	O95231	OTTHUMG00000019307	ENST00000325980.9:c.570C>T	10.37:g.135053603C>T			Q32MZ3	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S190	ENST00000325980.9	37	c.570	CCDS7675.1	10																																																																																			VENTX	-	NULL	ENSG00000151650		0.667	VENTX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VENTX	HGNC	protein_coding	OTTHUMT00000051116.4	-	0	80	0	C	NM_014468		135053603	1	tier1	-	no_errors	ENST00000325980	ensembl	human	known	74_37	silent	41.77	46	33	SNP	0.000	T	T	135053603	C	T	135053603	2	4	26	1	0	0	0	0	0	0	0	1	17202	639	23	1		1	VENTX	10	135053603	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1122930	135053603	481144	179	6731											
CD151	977	genome.wustl.edu	37	chr11	836150	836150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctacaattgctgcttCtgggtgaggaggggtcgcct	6	13	13	9	1	1	1	0	1	1	0	2	2	1	2	2	4	4	2	2	4	3	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:836150C>A	ENST00000397420.3	+	3	330	c.81C>A	c.(79-81)ttC>ttA	p.F27L	CD151_ENST00000528011.1_Missense_Mutation_p.F27L|CD151_ENST00000322008.4_Missense_Mutation_p.F27L|CD151_ENST00000397421.1_Missense_Mutation_p.F27L			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	27					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|T cell proliferation (GO:0042098)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATTGCTGCTTCTGGGTGAGGA	0.592																																					Esophageal Squamous(14;501 559 15826 37823 38305)												0													107	89	95					11																	836150		2197	4296	6493	SO:0001583	missense	0			AL161965, BC013302, D29963	CCDS7719.1	11p15.5	2014-07-18	2006-03-28		ENSG00000177697	ENSG00000177697		"CD molecules", "Blood group antigens", "Tetraspanins"	1630	protein-coding gene	gene with protein product		602243	"CD151 antigen", "CD151 antigen (Raph blood group)"			9070943	Standard	NM_004357		Approved	SFA-1, PETA-3, TSPAN24, RAPH	uc001lsb.3	P48509	OTTHUMG00000133311	ENST00000397420.3:c.81C>A	11.37:g.836150C>A	ENSP00000380565:p.Phe27Leu		A8KAK8|E9PI15|Q14826|Q86U54|Q96TE3	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.F27L	ENST00000397420.3	37	c.81	CCDS7719.1	11	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204621	0.38905	.	.	ENSG00000177697	ENST00000397420;ENST00000525718;ENST00000322008;ENST00000397421;ENST00000529810;ENST00000528143;ENST00000526693;ENST00000525333;ENST00000524748;ENST00000527341;ENST00000528867;ENST00000530320;ENST00000526439;ENST00000528011	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	4.93	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.80183	2.485	0.80722	D	1	B	0.30889	0.299	B	0.43018	0.405	D	0.84588	0.0665	10	0.45353	T	0.12	.	13.5808	0.61901	0.0:0.9242:0.0:0.0758	.	27	P48509	CD151_HUMAN	L	27	ENSP00000380565:F27L;ENSP00000435854:F27L;ENSP00000324101:F27L;ENSP00000380566:F27L;ENSP00000432258:F27L;ENSP00000435054:F27L;ENSP00000431671:F27L;ENSP00000431403:F27L;ENSP00000436591:F27L;ENSP00000433752:F27L;ENSP00000433787:F27L;ENSP00000434663:F27L;ENSP00000432990:F27L	ENSP00000324101:F27L	F	+	3	2	CD151	826150	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	2.388000	0.44398	1.313000	0.45069	-0.254000	0.11334	TTC	CD151	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000177697		0.592	CD151-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD151	HGNC	protein_coding	OTTHUMT00000257108.1	-	0	43	0	C	NM_004357		836150	1	tier1	-	no_errors	ENST00000322008	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	A	A	836150	C	A	836150	3	1	26	1	0	0	0	0	1	0	0	0	2972	912	32	3	83	3	CD151	11	836150	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09		836150	134170366	180	6732											
OR56A1	120796	genome.wustl.edu	37	chr11	6048626	6048626	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaacatctggaggaagcaGgcagggaagctgatcgacct	13	6	14	8	1	1	2	0	2	1	0	2	6	1	5	1	4	3	3	1	4	3	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:6048626G>T	ENST00000316650.5	-	1	345	c.309C>A	c.(307-309)gcC>gcA	p.A103A		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGAAGCAGGCAGGGAAGC	0.552																																																	0													111	97	102					11																	6048626		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"GPCR / Class A : Olfactory receptors"	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.309C>A	11.37:g.6048626G>T			B2RNI2|Q6IFL0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A103	ENST00000316650.5	37	c.309	CCDS31405.1	11																																																																																			OR56A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180934		0.552	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	-	0	70	0	G	NM_001001917		6048626	-1	tier1	-	no_errors	ENST00000316650	ensembl	human	known	74_37	silent	22.62	65	19	SNP	0.498	T	T	6048626	G	T	6048626	2	4	26	1	0	0	0	0	0	0	0	1	11172	987	35	3		3	OR56A1	11	6048626	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5212476	6048626	128957890	181	6733											
PPFIBP2	8495	genome.wustl.edu	37	chr11	7661053	7661053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaggctgccaaatctcctCccaccatctgccagcctgac	9	7	8	17	0	2	2	0	1	2	1	4	3	3	2	6	1	3	1	6	1	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:7661053C>A	ENST00000299492.4	+	15	1715	c.1327C>A	c.(1327-1329)Ccc>Acc	p.P443T	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P331T|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P285T|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P300T	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	443					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAAATCTCCTCCCACCATCTG	0.592																																																	0													90	90	90					11																	7661053		2201	4296	6497	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1327C>A	11.37:g.7661053C>A	ENSP00000299492:p.Pro443Thr		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.P443T	ENST00000299492.4	37	c.1327	CCDS31419.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.456|4.456	0.084506|0.084506	0.08583|0.08583	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181;ENST00000530081|ENST00000534409	T;T;T;T|.	0.30182|.	1.97;1.55;1.96;1.54|.	5.16|5.16	2.23|2.23	0.28157|0.28157	.|.	0.506682|.	0.20593|.	N|.	0.089302|.	T|T	0.38161|0.38161	0.1030|0.1030	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.33940|.	0.148;0.124;0.433;0.124;0.001;0.001|.	B;B;B;B;B;B|.	0.36244|.	0.093;0.03;0.22;0.03;0.001;0.002|.	T|T	0.25916|0.25916	-1.0118|-1.0118	10|5	0.36615|.	T|.	0.2|.	-8.3442|-8.3442	5.3336|5.3336	0.15945|0.15945	0.1605:0.6657:0.0:0.1737|0.1605:0.6657:0.0:0.1737	.|.	331;331;366;285;300;443|.	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30|.	.;.;.;.;.;LIPB2_HUMAN|.	T|Y	443;285;285;366;331;300;87|122	ENSP00000299492:P443T;ENSP00000436498:P285T;ENSP00000435469:P331T;ENSP00000437321:P300T|.	ENSP00000299492:P443T|.	P|S	+|+	1|2	0|0	PPFIBP2|PPFIBP2	7617629|7617629	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.030000|0.030000	0.12068|0.12068	-0.291000|-0.291000	0.08343|0.08343	0.270000|0.270000	0.21984|0.21984	-0.270000|-0.270000	0.10280|0.10280	CCC|TCC	PPFIBP2	-	NULL	ENSG00000166387		0.592	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2		0	38	0	C	NM_003621		7661053	1			no_errors	ENST00000299492	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.009	A	A	7661053	C	A	7661053	3	1	26	1	0	0	0	0	1	0	0	0	12353	855	30	3	1381	3	PPFIBP2	11	7661053	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1612427	7661053	127345463	182	6734											
NELL1	4745	genome.wustl.edu	37	chr11	21594756	21594756	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagattgctggccacTcacttgccccaacttgagct	9	10	10	12	0	1	3	1	1	0	2	1	3	1	3	3	2	4	3	3	2	2	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:21594756T>G	ENST00000357134.5	+	19	2335	c.2183T>G	c.(2182-2184)cTc>cGc	p.L728R	NELL1_ENST00000532434.1_Missense_Mutation_p.L681R|NELL1_ENST00000298925.5_Missense_Mutation_p.L756R|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.L671R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	728	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGCTGGCCACTCACTTGCCCC	0.443																																																	0													86	84	85					11																	21594756		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2183T>G	11.37:g.21594756T>G	ENSP00000349654:p.Leu728Arg		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.L728R	ENST00000357134.5	37	c.2183	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021133	0.75275	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.48	5.48	0.80851	von Willebrand factor, type C (4);	0.089128	0.45361	D	0.000376	T	0.77942	0.4206	L	0.49513	1.565	0.34872	D	0.743725	P;D;D;D;P	0.62365	0.852;0.97;0.971;0.991;0.878	P;P;P;D;P	0.70716	0.653;0.828;0.88;0.97;0.765	T	0.77991	-0.2379	10	0.13108	T	0.6	-6.0954	15.247	0.73513	0.0:0.0:0.0:1.0	.	671;756;273;681;728	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	R	756;728;671;681	ENSP00000298925:L756R;ENSP00000349654:L728R;ENSP00000317837:L671R;ENSP00000437170:L681R	ENSP00000298925:L756R	L	+	2	0	NELL1	21551332	0.998000	0.40836	0.430000	0.26722	0.992000	0.81027	7.698000	0.84413	2.078000	0.62432	0.454000	0.30748	CTC	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.443	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0	62	0	T	NM_006157		21594756	1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	28.99	49	20	SNP	0.412	G	G	21594756	T	G	21594756	3	3	26	1	0	0	0	0	1	0	0	0	10372	1551	54	4	2257	4	NELL1	11	21594756	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	13933703	21594756	113411760	183	6735											
SLC5A12	159963	genome.wustl.edu	37	chr11	26719966	26719966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatacctggtctggtgctGagatgatgccagaagtccaa	10	9	11	11	0	1	3	0	2	1	2	2	4	2	3	4	2	3	1	4	2	3	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:26719966G>A	ENST00000396005.3	-	7	1247	c.938C>T	c.(937-939)tCa>tTa	p.S313L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.S313L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	313					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTCTGGTGCTGAGATGATGCC	0.473																																																	0													99	93	95					11																	26719966		2203	4299	6502	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.938C>T	11.37:g.26719966G>A	ENSP00000379326:p.Ser313Leu		Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.S313L	ENST00000396005.3	37	c.938	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333514	0.60853	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.98	4.03	0.46877	.	0.075956	0.53938	D	0.000042	D	0.90075	0.6900	M	0.88241	2.94	0.36582	D	0.873584	B;B	0.27700	0.039;0.186	B;B	0.37387	0.067;0.248	D	0.92021	0.5626	10	0.66056	D	0.02	.	11.7433	0.51804	0.0648:0.0:0.8119:0.1234	.	313;313	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	L	313;313;125	ENSP00000379326:S313L;ENSP00000280467:S313L;ENSP00000435053:S125L	ENSP00000280467:S313L	S	-	2	0	SLC5A12	26676542	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.756000	0.62205	1.514000	0.48869	0.585000	0.79938	TCA	SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000148942		0.473	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	-	0	31	0	G	NM_178498		26719966	-1	tier1	-	no_errors	ENST00000396005	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.986	A	A	26719966	G	A	26719966	3	1	26	1	0	0	0	0	1	0	0	0	14709	1294	45	3	954	3	SLC5A12	11	26719966	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5125210	26719966	108286550	184	6736											
DNAJC24	341019	genome.wustl.edu	37	chr11	31392295	31392295	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcccacttctggttccatgGatgatggcggttgagcagat	7	11	14	9	1	1	3	0	2	1	1	2	4	2	4	2	5	1	3	2	5	0	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:31392295G>C	ENST00000452803.1	-	0	0				DNAJC24_ENST00000527601.1_3'UTR|DNAJC24_ENST00000465995.1_5'UTR|DNAJC24_ENST00000536040.1_5'UTR	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGGTTCCATGGATGATGGCGG	0.388																																																	0													55	53	54					11																	31392295		1852	4098	5950	SO:0001631	upstream_gene_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144		11.37:g.31392295G>C	Exception_encountered		A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	-	NULL	ENST00000452803.1	37	NULL	CCDS7872.1	11																																																																																			DNAJC24	-	-	ENSG00000170946		0.388	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC24	HGNC	protein_coding	OTTHUMT00000316531.1	-	0	19	0	G	NM_181807		31392295	1	tier1	-	no_errors	ENST00000532385	ensembl	human	known	74_37	rna	18.18	18	4	SNP	0.033	C	C	31392295	G	C	31392295	1	2	26	0	1	0	0	0	0	0	0	0	4656	1189	41	5		5	DNAJC24	11	31392295	5'Flank	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4672329	31392295	103614221	185	6737											
ELF5	2001	genome.wustl.edu	37	chr11	34515144	34515144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactgatgttgaagttgcaGaaggagatgcaattggtgtc	11	11	13	6	0	0	4	0	2	0	2	1	5	0	4	1	2	2	4	1	2	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:34515144G>A	ENST00000312319.2	-	3	496	c.267C>T	c.(265-267)ttC>ttT	p.F89F	ELF5_ENST00000532417.1_Silent_p.F79F|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000257832.2_Silent_p.F79F|ELF5_ENST00000528709.1_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	89	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TGAAGTTGCAGAAGGAGATGC	0.557											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(61;202 1660 4348 21594)												0													96	81	86					11																	34515144		2202	4298	6500	SO:0001819	synonymous_variant	0			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.267C>T	11.37:g.34515144G>A		848	A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.F89	ENST00000312319.2	37	c.267	CCDS7892.1	11																																																																																			ELF5	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom	ENSG00000135374		0.557	ELF5-002	KNOWN	basic|CCDS	protein_coding	ELF5	HGNC	protein_coding	OTTHUMT00000389845.1	-	0	45	0	G	NM_198381		34515144	-1	tier1	-	no_errors	ENST00000312319	ensembl	human	known	74_37	silent	45.16	17	14	SNP	1.000	A	A	34515144	G	A	34515144	2	1	26	1	0	0	0	0	0	0	0	1	5073	933	33	3		3	ELF5	11	34515144	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3122849	34515144	100491372	186	6738											
RAG1	5896	genome.wustl.edu	37	chr11	36596806	36596806	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagaagccaaacctaactCtgaactgtgttgcaagccat	14	9	8	10	0	1	3	0	2	1	1	1	3	1	3	3	0	6	2	3	0	6	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:36596806C>G	ENST00000299440.5	+	2	2064	c.1952C>G	c.(1951-1953)tCt>tGt	p.S651C		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	651					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAACCTAACTCTGAACTGTGT	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													74	68	70					11																	36596806		2202	4298	6500	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1952C>G	11.37:g.36596806C>G	ENSP00000299440:p.Ser651Cys		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.S651C	ENST00000299440.5	37	c.1952	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740662	0.69304	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.91011	-2.77;-2.77	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.97303	0.9118	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98111	1.0420	10	0.87932	D	0	.	19.9367	0.97143	0.0:1.0:0.0:0.0	.	651	P15918	RAG1_HUMAN	C	651	ENSP00000434610:S651C;ENSP00000299440:S651C	ENSP00000299440:S651C	S	+	2	0	RAG1	36553382	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.487000	0.81328	2.704000	0.92352	0.644000	0.83932	TCT	RAG1	-	NULL	ENSG00000166349		0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	-	0	43	0	C	NM_000448		36596806	1	tier1	-	no_errors	ENST00000299440	ensembl	human	known	74_37	missense	20.83	38	10	SNP	1.000	G	G	36596806	C	G	36596806	3	3	26	1	0	0	0	0	1	0	0	0	13048	913	32	5	1954	5	RAG1	11	36596806	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2081662	36596806	98409710	187	6739											
CREB3L1	90993	genome.wustl.edu	37	chr11	46331554	46331554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcaggccccgggagagatGactcagctgccagtgatcaa	10	6	12	13	1	3	3	3	2	0	1	3	5	3	4	4	2	2	1	4	2	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:46331554G>C	ENST00000529193.1	+	4	982	c.531G>C	c.(529-531)atG>atC	p.M177I	CREB3L1_ENST00000288400.3_Missense_Mutation_p.M177I			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	177					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CGGGAGAGATGACTCAGCTGC	0.592			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)			Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													41	47	45					11																	46331554		1975	4155	6130	SO:0001583	missense	0				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"basic leucine zipper proteins"	18856	protein-coding gene	gene with protein product	"BBF-2 homolog (drosophila)"						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.531G>C	11.37:g.46331554G>C	ENSP00000434939:p.Met177Ile		Q8N2D5|Q96CP0	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.M177I	ENST00000529193.1	37	c.531	CCDS53620.1	11	.	.	.	.	.	.	.	.	.	.	G	11.76	1.734956	0.30774	.	.	ENSG00000157613	ENST00000529193;ENST00000288400	T;T	0.63255	-0.03;-0.03	4.45	4.45	0.53987	.	0.282115	0.36101	N	0.002789	T	0.52500	0.1738	L	0.43152	1.355	0.32813	D	0.501659	B	0.12013	0.005	B	0.08055	0.003	T	0.59778	-0.7390	10	0.37606	T	0.19	-20.6822	12.2334	0.54500	0.0:0.0:0.8309:0.1691	.	177	Q96BA8	CR3L1_HUMAN	I	177	ENSP00000434939:M177I;ENSP00000288400:M177I	ENSP00000288400:M177I	M	+	3	0	CREB3L1	46288130	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.103000	0.31062	2.333000	0.79357	0.561000	0.74099	ATG	CREB3L1	-	NULL	ENSG00000157613		0.592	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	HGNC	protein_coding	OTTHUMT00000389702.1	-	0	26	0	G	NM_052854		46331554	1	tier1	-	no_errors	ENST00000288400	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	C	C	46331554	G	C	46331554	3	2	26	1	0	0	0	0	1	0	0	0	3863	1290	45	5	545	5	CREB3L1	11	46331554	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	9734748	46331554	88674962	188	6740											
CHRM4	1132	genome.wustl.edu	37	chr11	46407355	46407355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcttcttgacgctctgCttcattagtgggctcttgag	4	14	14	9	1	4	2	1	2	3	0	4	2	4	2	0	3	1	4	0	3	1	5	rs201352810		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:46407355C>T	ENST00000433765.2	-	1	752	c.753G>A	c.(751-753)aaG>aaA	p.K251K		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	251					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGACGCTCTGCTTCATTAGTG	0.697																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												0								C		0,3826		0,0,1913	17	18	17		753	3.4	1	11		17	2,8224		0,2,4111	no	coding-synonymous	CHRM4	NM_000741.2		0,2,6024	TT,TC,CC		0.0243,0.0,0.0166		251/480	46407355	2,12050	1913	4113	6026	SO:0001819	synonymous_variant	0			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.753G>A	11.37:g.46407355C>T			B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt	p.K251	ENST00000433765.2	37	c.753	CCDS44581.1	11																																																																																			CHRM4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180720		0.697	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	-	0	57	0	C	NM_000741		46407355	-1	tier1	rs201352810	no_errors	ENST00000433765	ensembl	human	known	74_37	silent	23.26	66	20	SNP	1.000	T	T	46407355	C	T	46407355	2	4	26	1	0	0	0	0	0	0	0	1	3386	796	28	3		3	CHRM4	11	46407355	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	75801	46407355	88599161	189	6741											
AMBRA1	55626	genome.wustl.edu	37	chr11	46563842	46563842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggtatcgttgttgaaggtCaggagattgtggcaagcacg	10	10	16	5	2	1	2	1	1	0	1	2	3	1	2	0	4	1	5	0	4	3	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:46563842C>T	ENST00000458649.2	-	7	2143	c.1725G>A	c.(1723-1725)ctG>ctA	p.L575L	AMBRA1_ENST00000314845.3_Silent_p.L485L|AMBRA1_ENST00000528950.1_Silent_p.L575L|AMBRA1_ENST00000298834.3_Silent_p.L575L|AMBRA1_ENST00000533727.1_Silent_p.L485L|AMBRA1_ENST00000534300.1_Silent_p.L575L|AMBRA1_ENST00000426438.1_Silent_p.L575L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	575					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGTTGAAGGTCAGGAGATTGT	0.587																																																	0													123	100	108					11																	46563842		2201	4299	6500	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1725G>A	11.37:g.46563842C>T			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L575	ENST00000458649.2	37	c.1725		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.587	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	54	0	C	NM_017749		46563842	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	silent	32.43	50	24	SNP	1.000	T	T	46563842	C	T	46563842	2	4	26	1	0	0	0	0	0	0	0	1	565	813	29	3		3	AMBRA1	11	46563842	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	156487	46563842	88442674	190	6742											
OR4C13	283092	genome.wustl.edu	37	chr11	49974835	49974835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccccttaatctacaccttGaggaatgctcaaatgaaaaa	17	9	5	10	0	2	2	1	2	1	0	2	3	2	3	3	1	3	1	3	1	7	3	rs182918611		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:49974835G>C	ENST00000555099.1	+	1	893	c.861G>C	c.(859-861)ttG>ttC	p.L287F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTACACCTTGAGGAATGCTC	0.373																																																	0													65	64	64					11																	49974835		2200	4296	6496	SO:0001583	missense	0			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.861G>C	11.37:g.49974835G>C	ENSP00000452277:p.Leu287Phe		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L287F	ENST00000555099.1	37	c.861	CCDS31495.1	11	.	.	.	.	.	.	.	.	.	.	.	0.035	-1.313875	0.01331	.	.	ENSG00000258817	ENST00000555099	T	0.39787	1.06	2.77	-4.2	0.03823	.	0.197919	0.24820	N	0.035326	T	0.26846	0.0657	L	0.53671	1.685	0.09310	N	1	B	0.28082	0.2	B	0.30782	0.12	T	0.13656	-1.0501	9	.	.	.	.	1.557	0.02586	0.2148:0.2862:0.3546:0.1444	.	287	Q8NGP0	OR4CD_HUMAN	F	287	ENSP00000452277:L287F	.	L	+	3	2	OR4C13	49931411	0.046000	0.20272	0.696000	0.30242	0.073000	0.16967	-0.922000	0.04004	-0.654000	0.05394	-1.238000	0.01547	TTG	OR4C13	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000258817		0.373	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	HGNC	protein_coding	OTTHUMT00000391103.1	-	0	42	0	G	NM_001001955		49974835	1	tier1	-	no_errors	ENST00000555099	ensembl	human	known	74_37	missense	30.51	41	18	SNP	0.041	C	C	49974835	G	C	49974835	3	2	26	1	0	0	0	0	1	0	0	0	11086	1281	45	5	863	5	OR4C13	11	49974835	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3410993	49974835	85031681	191	6743											
OR8H2	390151	genome.wustl.edu	37	chr11	55872714	55872714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgtattttttccttactCacctgtcatttattgacctc	7	19	3	12	0	2	1	2	1	0	0	4	1	3	1	4	0	1	1	4	0	3	8			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:55872714C>T	ENST00000313503.1	+	1	196	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H66Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTCCTTACTCACCTGTCATT	0.428										HNSCC(53;0.14)																																							1	Substitution - Missense(1)	lung(1)											232	218	223					11																	55872714		2201	4292	6493	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.196C>T	11.37:g.55872714C>T	ENSP00000323982:p.His66Tyr		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H66Y	ENST00000313503.1	37	c.196	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	c	12.47	1.946469	0.34377	.	.	ENSG00000181767	ENST00000313503	T	0.02974	4.09	3.58	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.228496	0.31519	N	0.007516	T	0.08626	0.0214	M	0.63428	1.95	0.09310	N	1	D	0.67145	0.996	D	0.65323	0.934	T	0.03112	-1.1071	10	0.87932	D	0	.	6.119	0.20142	0.2702:0.6231:0.0:0.1067	.	66	Q8N162	OR8H2_HUMAN	Y	66	ENSP00000323982:H66Y	ENSP00000323982:H66Y	H	+	1	0	OR8H2	55629290	0.000000	0.05858	0.894000	0.35097	0.612000	0.37316	-0.085000	0.11250	1.952000	0.56665	0.440000	0.28878	CAC	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181767		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	-	0	81	0	C	NM_001005200		55872714	1	tier1	-	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	15.73	75	14	SNP	0.000	T	T	55872714	C	T	55872714	3	4	26	1	0	0	0	0	1	0	0	0	11277	826	29	3	198	3	OR8H2	11	55872714	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5897879	55872714	79133802	192	6744											
OR8K5	219453	genome.wustl.edu	37	chr11	55927085	55927085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaccacatgtggagaaagCctttttcctgccctctgcag	9	10	10	12	0	1	1	0	0	1	1	2	3	2	2	4	2	4	1	4	2	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:55927085C>A	ENST00000313447.1	-	1	708	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408																																																	1	Substitution - Missense(1)	lung(1)											85	80	82					11																	55927085		2201	4296	6497	SO:0001583	missense	0			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.709G>T	11.37:g.55927085C>A	ENSP00000323853:p.Ala237Ser		Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237S	ENST00000313447.1	37	c.709	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	c	11.86	1.765018	0.31228	.	.	ENSG00000181752	ENST00000313447	T	0.00359	7.87	3.98	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.351885	0.24431	N	0.038600	T	0.00496	0.0016	M	0.93939	3.475	0.28586	N	0.909891	P	0.36768	0.569	B	0.35770	0.21	T	0.03587	-1.1022	10	0.87932	D	0	.	11.6173	0.51096	0.1805:0.8195:0.0:0.0	.	237	Q8NH50	OR8K5_HUMAN	S	237	ENSP00000323853:A237S	ENSP00000323853:A237S	A	-	1	0	OR8K5	55683661	0.994000	0.37717	0.954000	0.39281	0.155000	0.21991	3.064000	0.49986	1.019000	0.39547	-0.377000	0.06932	GCT	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181752		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1		0	29	0	C	NM_001004058		55927085	-1			no_errors	ENST00000313447	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	55927085	C	A	55927085	3	1	26	1	0	0	0	0	1	0	0	0	11284	739	26	3	217	3	OR8K5	11	55927085	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	54371	55927085	79079431	193	6745											
CLP1	10978	genome.wustl.edu	37	chr11	57428246	57428246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttttgcagattacatctCgtttagcagatgtgttcaac	9	16	7	9	1	3	2	1	0	2	2	4	2	3	2	0	0	4	4	0	0	3	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:57428246C>T	ENST00000302731.4	+	3	544	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	CLP1_ENST00000525602.1_Missense_Mutation_p.R206C|CLP1_ENST00000529430.1_Missense_Mutation_p.R217C|CLP1_ENST00000533682.1_Missense_Mutation_p.R206C	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						GATTACATCTCGTTTAGCAGA	0.438																																																	0													101	97	99					11																	57428246		2201	4296	6497	SO:0001583	missense	0			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.424C>T	11.37:g.57428246C>T	ENSP00000304704:p.Arg142Cys		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.R206C	ENST00000302731.4	37	c.616	CCDS44600.1	11	.	.	.	.	.	.	.	.	.	.	c	13.52	2.262061	0.39995	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.49139	0.79;0.79;0.79;0.97	6.05	5.14	0.70334	.	0.092787	0.85682	D	0.000000	T	0.43809	0.1264	L	0.46157	1.445	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.15484	0.001;0.013	T	0.32268	-0.9913	10	0.51188	T	0.08	-20.5558	14.9414	0.70997	0.0:0.9313:0.0:0.0687	.	142;206	Q92989-2;Q92989	.;CLP1_HUMAN	C	217;206;206;142	ENSP00000433406:R217C;ENSP00000434995:R206C;ENSP00000436066:R206C;ENSP00000304704:R142C	ENSP00000304704:R142C	R	+	1	0	CLP1	57184822	0.996000	0.38824	0.672000	0.29872	0.990000	0.78478	3.095000	0.50235	1.586000	0.49944	0.645000	0.84053	CGT	CLP1	-	superfamily_P-loop_NTPase	ENSG00000172409		0.438	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	HGNC	protein_coding	OTTHUMT00000393465.1	-	0	68	0	C	NM_006831		57428246	1	tier1	-	no_errors	ENST00000525602	ensembl	human	known	74_37	missense	12.28	100	14	SNP	0.960	T	T	57428246	C	T	57428246	3	4	26	1	0	0	0	0	1	0	0	0	3557	884	31	1	622	1	CLP1	11	57428246	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1501161	57428246	77578270	194	6746											
CTNND1	1500	genome.wustl.edu	37	chr11	57578949	57578949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctctcattgaccggaacCaaaaatcaggtgcagtatcc	12	9	7	13	1	2	1	2	1	1	0	5	2	4	2	4	2	2	2	4	2	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:57578949C>G	ENST00000399050.4	+	17	3165	c.2629C>G	c.(2629-2631)Caa>Gaa	p.Q877E	CTNND1_ENST00000532245.1_Missense_Mutation_p.Q770E|CTNND1_ENST00000527467.1_Missense_Mutation_p.Q554E|CTNND1_ENST00000532787.1_Missense_Mutation_p.Q770E|CTNND1_ENST00000361391.6_Missense_Mutation_p.Q871E|CTNND1_ENST00000428599.2_Missense_Mutation_p.Q871E|CTNND1_ENST00000529526.1_Missense_Mutation_p.Q817E|CTNND1_ENST00000526772.1_Missense_Mutation_p.Q548E|CTNND1_ENST00000530094.1_Missense_Mutation_p.Q770E|CTNND1_ENST00000532463.1_Missense_Mutation_p.Q770E|CTNND1_ENST00000399039.4_Missense_Mutation_p.Q877E|CTNND1_ENST00000526357.1_Missense_Mutation_p.Q817E|CTNND1_ENST00000360682.6_Missense_Mutation_p.Q877E|CTNND1_ENST00000533667.1_Missense_Mutation_p.Q548E|CTNND1_ENST00000532649.1_Missense_Mutation_p.Q817E|CTNND1_ENST00000415361.2_Missense_Mutation_p.Q776E|CTNND1_ENST00000524630.1_Missense_Mutation_p.Q871E|CTNND1_ENST00000526938.1_Missense_Mutation_p.Q877E|CTNND1_ENST00000530748.1_Missense_Mutation_p.Q823E|CTNND1_ENST00000529986.1_Missense_Mutation_p.Q770E|CTNND1_ENST00000532844.1_Missense_Mutation_p.Q823E|CTNND1_ENST00000361332.4_Missense_Mutation_p.Q871E|CTNND1_ENST00000426142.2_Missense_Mutation_p.Q770E|CTNND1_ENST00000534579.1_Missense_Mutation_p.Q817E|CTNND1_ENST00000525902.1_Missense_Mutation_p.Q554E|CTNND1_ENST00000529919.1_Missense_Mutation_p.Q877E|CTNND1_ENST00000361796.4_Missense_Mutation_p.Q871E|CTNND1_ENST00000528232.1_Missense_Mutation_p.Q776E|CTNND1_ENST00000358694.6_Missense_Mutation_p.Q871E|CTNND1_ENST00000531014.1_Missense_Mutation_p.Q548E|CTNND1_ENST00000529873.1_Missense_Mutation_p.Q817E|CTNND1_ENST00000528621.1_Missense_Mutation_p.Q817E	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	877					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCGGAACCAAAAATCAGG	0.423																																																	0													210	193	198					11																	57578949		1907	4124	6031	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2629C>G	11.37:g.57578949C>G	ENSP00000382004:p.Gln877Glu		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q877E	ENST00000399050.4	37	c.2629	CCDS44604.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.83|14.83	2.651714|2.651714	0.47362|0.47362	.|.	.|.	ENSG00000198561|ENSG00000198561	ENST00000531007|ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.74947	.|-0.26;-0.26;-0.26;-0.57;-0.26;-0.26;-0.18;-0.27;-0.57;-0.27;-0.18;-0.18;-0.26;-0.46;-0.89;-0.26;-0.26;-0.26;-0.26;-0.53;-0.17;-0.53;-0.51;-0.56;-0.51;-0.27;-0.28;-0.26;-0.26;-0.18;-0.26;-0.57	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|0.339796	.|0.31323	.|N	.|0.007858	T|T	0.69405|0.69405	0.3107|0.3107	L|L	0.47190|0.47190	1.495|1.495	0.41687|0.41687	D|D	0.989327|0.989327	.|B;B;B;P;B;B;B;B;B	.|0.36874	.|0.027;0.027;0.016;0.572;0.018;0.013;0.002;0.254;0.016	.|B;B;B;B;B;B;B;B;B	.|0.33295	.|0.023;0.023;0.01;0.161;0.004;0.003;0.01;0.068;0.01	T|T	0.67313|0.67313	-0.5702|-0.5702	5|10	.|0.30854	.|T	.|0.27	-7.3501|-7.3501	19.9118|19.9118	0.97027|0.97027	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|877;871;877;770;817;817;871;877;877	.|O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.|.;.;CTND1_HUMAN;.;.;.;.;.;.	R|E	53|871;877;877;877;871;817;770;877;871;871;770;770;871;770;548;817;817;823;871;554;776;548;548;817;554;823;817;770;776;770;817;877	.|ENSP00000436543:Q871E;ENSP00000434808:Q877E;ENSP00000381996:Q877E;ENSP00000353902:Q877E;ENSP00000354907:Q871E;ENSP00000436323:Q817E;ENSP00000409930:Q770E;ENSP00000382004:Q877E;ENSP00000354785:Q871E;ENSP00000354823:Q871E;ENSP00000432075:Q770E;ENSP00000437156:Q770E;ENSP00000351527:Q871E;ENSP00000434949:Q770E;ENSP00000437051:Q548E;ENSP00000435379:Q817E;ENSP00000432243:Q817E;ENSP00000436744:Q823E;ENSP00000413586:Q871E;ENSP00000434900:Q554E;ENSP00000435266:Q776E;ENSP00000432623:Q548E;ENSP00000433158:Q548E;ENSP00000435494:Q817E;ENSP00000434672:Q554E;ENSP00000433276:Q823E;ENSP00000433334:Q817E;ENSP00000437327:Q770E;ENSP00000403518:Q776E;ENSP00000434017:Q770E;ENSP00000435789:Q817E;ENSP00000432041:Q877E	.|ENSP00000351527:Q871E	P|Q	+|+	2|1	0|0	CTNND1|CTNND1	57335525|57335525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.660000|5.660000	0.68018|0.68018	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	CCA|CAA	CTNND1	-	NULL	ENSG00000198561		0.423	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1		0	35	0	C	NM_001331		57578949	1			no_errors	ENST00000399050	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	G	G	57578949	C	G	57578949	3	3	26	1	0	0	0	0	1	0	0	0	4028	595	21	5	2687	5	CTNND1	11	57578949	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	150703	57578949	77427567	195	6747											
OR1S1	219959	genome.wustl.edu	37	chr11	57982698	57982698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttgctcacagtcatctCatggttcctcagtaatatta	10	16	5	10	0	4	0	4	0	1	0	6	0	5	0	1	1	1	3	1	1	3	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:57982698C>T	ENST00000309433.6	+	1	482	c.482C>T	c.(481-483)tCa>tTa	p.S161L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ACAGTCATCTCATGGTTCCTC	0.473																																																	0													219	204	209					11																	57982698		2201	4296	6497	SO:0001583	missense	0			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"GPCR / Class A : Olfactory receptors"	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.482C>T	11.37:g.57982698C>T	ENSP00000311688:p.Ser161Leu		Q6IFG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S161L	ENST00000309433.6	37	c.482	CCDS31546.1	11	.	.	.	.	.	.	.	.	.	.	C	6.511	0.462405	0.12342	.	.	ENSG00000172774	ENST00000309433	T	0.37752	1.18	3.45	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.483471	0.17547	N	0.170329	T	0.37758	0.1015	M	0.67517	2.055	0.09310	N	1	B	0.33841	0.428	B	0.39876	0.312	T	0.35151	-0.9800	10	0.72032	D	0.01	.	7.5727	0.27918	0.1742:0.4856:0.3401:0.0	.	161	Q8NH92	OR1S1_HUMAN	L	161	ENSP00000311688:S161L	ENSP00000311688:S161L	S	+	2	0	OR1S1	57739274	0.000000	0.05858	0.013000	0.15412	0.023000	0.10783	1.059000	0.30517	0.597000	0.29811	0.479000	0.44913	TCA	OR1S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172774		0.473	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	-	0	66	0	C	NM_001004458		57982698	1	tier1	-	no_errors	ENST00000309433	ensembl	human	known	74_37	missense	25.00	56	19	SNP	0.002	T	T	57982698	C	T	57982698	3	4	26	1	0	0	0	0	1	0	0	0	11011	838	29	3	484	3	OR1S1	11	57982698	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	403749	57982698	77023818	196	6748											
FTH1	2495	genome.wustl.edu	37	chr11	61734848	61734848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggttgatggcggcctctGagtcctggtggtagttctgg	3	12	18	8	2	2	2	0	2	2	0	3	2	3	2	2	7	0	3	2	7	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:61734848G>A	ENST00000273550.7	-	1	284	c.50C>T	c.(49-51)tCa>tTa	p.S17L	FTH1_ENST00000532601.1_5'Flank|FTH1_ENST00000529631.1_Missense_Mutation_p.S17L|AP003733.1_ENST00000601917.1_5'Flank|FTH1_ENST00000529191.1_Missense_Mutation_p.S17L|FTH1_ENST00000526640.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	17	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GGCGGCCTCTGAGTCCTGGTG	0.701																																																	0													10	11	11					11																	61734848		1916	4028	5944	SO:0001583	missense	0				CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"apoferritin", "placenta immunoregulatory factor", "proliferation-inducing protein 15"	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.50C>T	11.37:g.61734848G>A	ENSP00000273550:p.Ser17Leu		B3KNR5|Q3KRA8|Q3SWW1	Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.S17L	ENST00000273550.7	37	c.50	CCDS41655.1	11	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684536	0.68157	.	.	ENSG00000167996	ENST00000529191;ENST00000529631;ENST00000530019;ENST00000273550;ENST00000406545	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	4.76	3.85	0.44370	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin-like (1);	0.343345	0.33290	N	0.005071	T	0.53642	0.1809	L	0.50847	1.595	0.80722	D	1	B	0.13594	0.008	B	0.15052	0.012	T	0.54510	-0.8283	10	0.87932	D	0	.	8.4783	0.33027	0.0894:0.2724:0.6383:0.0	.	17	P02794	FRIH_HUMAN	L	17;17;17;17;66	ENSP00000431659:S17L;ENSP00000431575:S17L;ENSP00000433470:S17L;ENSP00000273550:S17L	ENSP00000273550:S17L	S	-	2	0	FTH1	61491424	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	3.171000	0.50824	1.100000	0.41517	0.484000	0.47621	TCA	FTH1	-	superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000167996		0.701	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTH1	HGNC	protein_coding	OTTHUMT00000388444.1	-	0	32	0	G	NM_002032		61734848	-1	tier1	-	no_errors	ENST00000273550	ensembl	human	known	74_37	missense	30.77	18	8	SNP	0.997	A	A	61734848	G	A	61734848	3	1	26	1	0	0	0	0	1	0	0	0	6106	1294	45	3	517	3	FTH1	11	61734848	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3752150	61734848	73271668	197	6749											
BBS1	582	genome.wustl.edu	37	chr11	66299165	66299165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaactaccccctggaGacctttgtggagagtctcag	8	9	12	12	0	2	2	2	0	1	2	3	4	2	2	3	3	2	1	3	3	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:66299165G>T	ENST00000318312.7	+	16	1698	c.1647G>T	c.(1645-1647)gaG>gaT	p.E549D	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.E452D|BBS1_ENST00000393994.2_Missense_Mutation_p.E420D|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.E586D	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	549					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						ACCCCCTGGAGACCTTTGTGG	0.552									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													179	167	171					11																	66299165		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1647G>T	11.37:g.66299165G>T	ENSP00000317469:p.Glu549Asp		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.E586D	ENST00000318312.7	37	c.1758	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455200	0.43634	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.97089	-4.17;-4.24;-4.03;-4.01	5.79	3.91	0.45181	.	.	.	.	.	D	0.92987	0.7768	L	0.31664	0.95	0.80722	D	1	B;B;B;B;B;B	0.28584	0.153;0.119;0.216;0.153;0.125;0.125	B;B;B;B;B;B	0.32805	0.048;0.111;0.153;0.051;0.021;0.037	D	0.87916	0.2700	9	0.25106	T	0.35	.	8.2404	0.31656	0.2442:0.0:0.7558:0.0	.	224;452;420;437;549;586	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	D	586;549;452;420	ENSP00000398526:E586D;ENSP00000317469:E549D;ENSP00000405764:E452D;ENSP00000377563:E420D	ENSP00000317469:E549D	E	+	3	2	BBS1;CTD-3074O7.11	66055741	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.913000	0.28611	0.776000	0.33473	0.655000	0.94253	GAG	CTD-3074O7.11	-	NULL	ENSG00000256349		0.552	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2	-	0	57	0	G			66299165	1	tier1	-	no_errors	ENST00000419755	ensembl	human	known	74_37	missense	20.43	74	19	SNP	1.000	T	T	66299165	G	T	66299165	3	4	26	1	0	0	0	0	1	0	0	0	1336	933	33	3	1709	3	BBS1	11	66299165	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4564317	66299165	68707351	198	6750											
RBM14	5936	genome.wustl.edu	37	chr11	66384399	66384399	+	De_novo_Start_OutOfFrame	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcgctcgtggtggagAtgtcgcgcccaaggcctctt	4	8	16	13	6	1	1	0	0	1	1	3	2	1	1	2	4	0	1	2	4	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:66384399A>T	ENST00000503028.2	+	0	298				RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000409738.4_Missense_Mutation_p.M70L|RBM14_ENST00000393979.3_Missense_Mutation_p.M70L|RBM4_ENST00000514361.3_Missense_Mutation_p.M70L|RBM14_ENST00000443702.1_Missense_Mutation_p.M70L|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.M70L|RBM14_ENST00000310137.4_Missense_Mutation_p.M70L|RBM14_ENST00000409372.1_Missense_Mutation_p.M70L|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.M70L			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4						cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTGGTGGAGATGTCGCGCCC	0.672																																																	0													38	48	44					11																	66384399		2189	4266	6455			0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000503028.2:c.-142A>T	11.37:g.66384399A>T			B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.M70L	ENST00000503028.2	37	c.208	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642782	0.29246	.	.	ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000239306;ENSG00000248643;ENSG00000248643	ENST00000310137;ENST00000393979;ENST00000409372;ENST00000443702;ENST00000409738;ENST00000412278;ENST00000500635	T;T;T;T;T;T;T	0.38240	1.15;1.15;3.51;3.51;3.51;3.51;3.51	5.06	5.06	0.68205	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.53938	D	0.000056	T	0.12902	0.0313	N	0.02420	-0.555	0.80722	D	1	B;B;B;B	0.16802	0.019;0.003;0.0;0.006	B;B;B;B	0.14578	0.011;0.004;0.001;0.004	T	0.13899	-1.0492	10	0.07030	T	0.85	-4.1641	9.0729	0.36504	0.8146:0.1854:0.0:0.0	.	70;70;70;70	B0LM41;Q96PK6-2;Q2PYN1;Q96PK6	.;.;.;RBM14_HUMAN	L	70	ENSP00000311747:M70L;ENSP00000377548:M70L;ENSP00000386518:M70L;ENSP00000414650:M70L;ENSP00000386995:M70L;ENSP00000388552:M70L;ENSP00000421279:M70L	ENSP00000311747:M70L	M	+	1	0	RBM14;RBM14-RBM4	66140975	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.200000	0.32247	1.916000	0.55485	0.379000	0.24179	ATG	RBM14	-	pfscan_RRM_dom	ENSG00000239306		0.672	RBM4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000334212.1	-	0	57	0	A	NM_002896		66384399	1	tier1	-	no_errors	ENST00000310137	ensembl	human	known	74_37	missense	25.00	36	12	SNP	1.000	T	T	66384399	A	T	66384399	1	4	26	1	0	1	0	0	0	0	0	0	13160	333	12	5		5	RBM14	11	66384399	De_novo_Start_OutOfFrame	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	85234	66384399	68622117	199	6751											
LRP5	4041	genome.wustl.edu	37	chr11	68125233	68125233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcccaatggactgaccAtcgacctggaggagcagaag	12	5	13	11	1	0	2	0	1	0	1	1	6	0	5	3	4	1	1	3	4	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:68125233A>T	ENST00000294304.7	+	3	710	c.604A>T	c.(604-606)Atc>Ttc	p.I202F		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	202	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGACTGACCATCGACCTGGA	0.607																																																	0													84	66	72					11																	68125233		2200	4294	6494	SO:0001583	missense	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.604A>T	11.37:g.68125233A>T	ENSP00000294304:p.Ile202Phe		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I202F	ENST00000294304.7	37	c.604	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164551	0.57476	.	.	ENSG00000162337	ENST00000294304	D	0.96967	-4.19	3.66	3.66	0.41972	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48767	U	0.000170	D	0.97294	0.9115	M	0.77616	2.38	0.58432	D	0.999992	D	0.57571	0.98	P	0.59703	0.862	D	0.97742	1.0209	10	0.87932	D	0	.	13.3573	0.60635	1.0:0.0:0.0:0.0	.	202	O75197	LRP5_HUMAN	F	202	ENSP00000294304:I202F	ENSP00000294304:I202F	I	+	1	0	LRP5	67881809	0.862000	0.29867	1.000000	0.80357	0.659000	0.38960	1.485000	0.35519	1.903000	0.55091	0.374000	0.22700	ATC	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000162337		0.607	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	-	0	65	0	A	NM_002335		68125233	1	tier1	-	no_errors	ENST00000294304	ensembl	human	known	74_37	missense	18.67	61	14	SNP	0.999	T	T	68125233	A	T	68125233	3	4	26	1	0	0	0	0	1	0	0	0	8995	217	8	5	614	5	LRP5	11	68125233	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	1740834	68125233	66881283	200	6752											
SHANK2	22941	genome.wustl.edu	37	chr11	70332425	70332425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcttcctgcagggcgttgtCcagcttagtggcgtccacgg	4	11	13	13	3	1	0	0	0	1	0	4	0	4	0	3	3	2	3	3	3	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:70332425C>G	ENST00000423696.2	-	15	2872	c.2836G>C	c.(2836-2838)Gac>Cac	p.D946H	SHANK2_ENST00000409161.1_Missense_Mutation_p.D729H|SHANK2_ENST00000449833.2_Missense_Mutation_p.D730H|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1326H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	946					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGGCGTTGTCCAGCTTAGTG	0.587																																																	0													116	103	107					11																	70332425		2200	4294	6494	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2836G>C	11.37:g.70332425C>G	ENSP00000394536:p.Asp946His		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.D1326H	ENST00000423696.2	37	c.3976		11	.	.	.	.	.	.	.	.	.	.	C	7.156	0.584825	0.13749	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	5.24	4.32	0.51571	.	612.597000	0.00166	N	0.000000	T	0.32285	0.0824	L	0.34521	1.04	0.35531	D	0.802279	P;P;P	0.46706	0.523;0.883;0.654	P;P;P	0.52424	0.503;0.506;0.698	T	0.01834	-1.1264	10	0.48119	T	0.1	.	10.1033	0.42517	0.0:0.7751:0.1498:0.0751	.	946;1325;730	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	730;729;604;1326;946;964;949	ENSP00000399423:D730H;ENSP00000386491:D729H;ENSP00000402944:D604H;ENSP00000345193:D1326H;ENSP00000394536:D946H;ENSP00000294018:D949H	ENSP00000294018:D949H	D	-	1	0	SHANK2	70010073	0.012000	0.17670	0.001000	0.08648	0.080000	0.17528	2.573000	0.46007	1.169000	0.42739	-0.311000	0.09066	GAC	SHANK2	-	NULL	ENSG00000162105		0.587	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		-	0	33	0	C	NM_012309		70332425	-1	tier1	-	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.023	G	G	70332425	C	G	70332425	3	3	26	1	0	0	0	0	1	0	0	0	14310	855	30	5	1584	5	SHANK2	11	70332425	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2207192	70332425	64674091	201	6753											
KRTAP5-10	387273	genome.wustl.edu	37	chr11	71276876	71276876	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcttgtgggggctccaaAgggggctgtggttcctgtgg	3	11	19	8	0	1	0	0	0	1	0	3	0	3	0	2	7	0	4	2	7	1	2	rs12788123		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:71276876A>G	ENST00000398531.1	+	1	268	c.243A>G	c.(241-243)aaA>aaG	p.K81K	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	81	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.K81K(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTCCAAAGGGGGCTGTG	0.682																																																	1	Substitution - coding silent(1)	endometrium(1)											51	72	65					11																	71276876		2140	4257	6397	SO:0001819	synonymous_variant	0			AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"Keratin associated proteins"	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.243A>G	11.37:g.71276876A>G			B9EHA4	Silent	SNP	NULL	p.K81	ENST00000398531.1	37	c.243	CCDS41684.1	11																																																																																			KRTAP5-10	-	NULL	ENSG00000204572		0.682	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP5-10	HGNC	protein_coding	OTTHUMT00000127968.2		0	61	0	A			71276876	1			no_errors	ENST00000398531	ensembl	human	known	74_37	silent	10.39	69	8	SNP	0.005	G	G	71276876	A	G	71276876	2	3	26	1	0	0	0	0	0	0	0	1	8587	69	3	4		4	KRTAP5-10	11	71276876	Silent	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	944451	71276876	63729640	202	6754											
FAT3	120114	genome.wustl.edu	37	chr11	92538330	92538330	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taactgcaggaggaaaccctCgaggaaggtttgctctgggc	10	8	14	9	1	1	0	0	0	1	0	2	4	1	3	1	5	4	3	1	5	3	2	rs563792009		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:92538330C>T	ENST00000298047.6	+	10	8925	c.8908C>T	c.(8908-8910)Cga>Tga	p.R2970*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.R2820*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.R2970*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2970	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGAAACCCTCGAGGAAGGTT	0.433										TCGA Ovarian(4;0.039)																																							0													65	66	66					11																	92538330		1860	4093	5953	SO:0001587	stop_gained	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8908C>T	11.37:g.92538330C>T	ENSP00000298047:p.Arg2970*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R2970*	ENST00000298047.6	37	c.8908		11	.	.	.	.	.	.	.	.	.	.	C	50	17.121175	0.99879	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	6.06	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	12.479	0.55831	0.5627:0.4373:0.0:0.0	.	.	.	.	X	2970;2970;2820	.	ENSP00000298047:R2970X	R	+	1	2	FAT3	92177978	0.650000	0.27331	1.000000	0.80357	0.992000	0.81027	1.284000	0.33249	1.530000	0.49136	0.650000	0.86243	CGA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.433	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	32	0	C	NM_001008781		92538330	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	nonsense	21.43	33	9	SNP	1.000	T	T	92538330	C	T	92538330	4	4	26	1	0	0	0	0	0	1	0	0	5713	876	31	1	8946	1	FAT3	11	92538330	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	21261454	92538330	42468186	203	6755											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103152935	103152935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacgtttacaggtgtggttGttggagacatgttacggaaa	11	13	13	4	2	0	1	0	0	0	1	0	3	0	2	0	4	3	4	0	4	4	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:103152935G>A	ENST00000375735.2	+	72	10933	c.10789G>A	c.(10789-10791)Gtt>Att	p.V3597I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V3604I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3597					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGGTGTGGTTGTTGGAGACAT	0.289																																																	0													90	90	90					11																	103152935		1801	4057	5858	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10789G>A	11.37:g.103152935G>A	ENSP00000364887:p.Val3597Ile		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V3604I	ENST00000375735.2	37	c.10810	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109091	0.37242	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.52295	0.67;0.67	5.83	5.83	0.93111	.	0.217601	0.38663	N	0.001603	T	0.29556	0.0737	N	0.20357	0.565	0.41184	D	0.986253	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.16335	-1.0406	10	0.18276	T	0.48	.	9.0482	0.36360	0.1566:0.0:0.8434:0.0	.	3597;3604	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	3597;3604	ENSP00000364887:V3597I;ENSP00000381167:V3604I	ENSP00000364887:V3597I	V	+	1	0	DYNC2H1	102658145	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.940000	0.40223	2.747000	0.94245	0.585000	0.79938	GTT	DYNC2H1	-	NULL	ENSG00000187240		0.289	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	32	0	G	XM_370652		103152935	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A	A	103152935	G	A	103152935	3	1	26	1	0	0	0	0	1	0	0	0	4860	1377	48	3	11100	3	DYNC2H1	11	103152935	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	10614605	103152935	31853581	204	6756											
NLRX1	79671	genome.wustl.edu	37	chr11	119050456	119050456	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagccgggaggcggtggctCaggccatggtgctggagatg	8	6	19	8	2	1	1	1	0	0	1	1	3	1	2	2	7	2	2	2	7	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:119050456C>T	ENST00000409109.1	+	7	2313	c.1726C>T	c.(1726-1728)Cag>Tag	p.Q576*	NLRX1_ENST00000409991.1_Nonsense_Mutation_p.Q576*|NLRX1_ENST00000525863.1_Nonsense_Mutation_p.Q576*|NLRX1_ENST00000292199.2_Nonsense_Mutation_p.Q576*|NLRX1_ENST00000409265.4_Nonsense_Mutation_p.Q576*	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	576	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCGGTGGCTCAGGCCATGGT	0.602																																																	0													107	111	110					11																	119050456		2200	4295	6495	SO:0001587	stop_gained	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1726C>T	11.37:g.119050456C>T	ENSP00000387334:p.Gln576*		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.Q576*	ENST00000409109.1	37	c.1726	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	41	9.080606	0.99059	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	.	.	.	5.33	5.33	0.75918	.	0.275034	0.32041	N	0.006670	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	14.715	0.69259	0.1454:0.8546:0.0:0.0	.	.	.	.	X	576	.	ENSP00000292199:Q576X	Q	+	1	0	NLRX1	118555666	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	3.578000	0.53892	2.503000	0.84419	0.561000	0.74099	CAG	NLRX1	-	NULL	ENSG00000160703		0.602	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	-	0	94	0	C	NM_170722		119050456	1	tier1	-	no_errors	ENST00000292199	ensembl	human	known	74_37	nonsense	9.78	83	9	SNP	1.000	T	T	119050456	C	T	119050456	4	4	26	1	0	0	0	0	0	1	0	0	10524	827	29	3	1748	3	NLRX1	11	119050456	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	15897521	119050456	15956060	205	6757											
BSX	390259	genome.wustl.edu	37	chr11	122850084	122850084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgagtcagagaaaaccGtgcgggctttgcggcggcgg	7	6	18	10	6	1	1	1	0	0	1	1	3	1	1	1	4	4	2	1	4	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr11:122850084G>T	ENST00000343035.2	-	2	392	c.344C>A	c.(343-345)aCg>aAg	p.T115K		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	115					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		AGAGAAAACCGTGCGGGCTTT	0.662																																																	0													41	51	48					11																	122850084		2044	4191	6235	SO:0001583	missense	0				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.344C>A	11.37:g.122850084G>T	ENSP00000344285:p.Thr115Lys			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.T115K	ENST00000343035.2	37	c.344	CCDS41728.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.497543	0.96355	.	.	ENSG00000188909	ENST00000343035	D	0.97232	-4.3	5.22	5.22	0.72569	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.098835	0.64402	D	0.000002	D	0.98804	0.9597	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	.	18.7806	0.91930	0.0:0.0:1.0:0.0	.	115	Q3C1V8	BSH_HUMAN	K	115	ENSP00000344285:T115K	ENSP00000344285:T115K	T	-	2	0	BSX	122355294	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.642000	0.98461	2.454000	0.82982	0.655000	0.94253	ACG	BSX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000188909		0.662	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BSX	HGNC	protein_coding	OTTHUMT00000317076.1		0	32	0	G	NM_001098169		122850084	-1			no_errors	ENST00000343035	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	122850084	G	T	122850084	3	4	26	1	0	0	0	0	1	0	0	0	1539	1145	40	2	364	2	BSX	11	122850084	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3799628	122850084	12156432	206	6758											
IQSEC3	440073	genome.wustl.edu	37	chr12	176445	176445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggccctggcagcagggctCacacaccccagtcgccccac	7	3	12	19	1	1	0	1	0	0	0	2	0	1	0	5	4	1	3	5	4	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:176445C>T	ENST00000538872.1	+	1	515	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	IQSEC3_ENST00000326261.4_Missense_Mutation_p.H133Y			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	133					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CAGCAGGGCTCACACACCCCA	0.721																																																	0													17	24	21					12																	176445		1563	3578	5141	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.397C>T	12.37:g.176445C>T	ENSP00000437554:p.His133Tyr		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.H133Y	ENST00000538872.1	37	c.397	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	c	3.655	-0.070735	0.07228	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.36878	1.23;1.23	4.8	1.36	0.22044	.	3.797020	0.01010	U	0.003812	T	0.21145	0.0509	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.16719	-1.0393	8	0.02654	T	1	.	4.558	0.12145	0.1795:0.5993:0.0:0.2212	.	.	.	.	Y	133	ENSP00000437554:H133Y;ENSP00000315662:H133Y	ENSP00000315662:H133Y	H	+	1	0	IQSEC3	46706	0.887000	0.30362	0.056000	0.19401	0.093000	0.18481	1.763000	0.38461	0.412000	0.25729	0.561000	0.74099	CAC	IQSEC3	-	NULL	ENSG00000120645		0.721	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3	-	0	131	0	C	XM_495902		176445	1	tier1	-	no_errors	ENST00000326261	ensembl	human	known	74_37	missense	21.15	123	33	SNP	0.032	T	T	176445	C	T	176445	3	4	26	1	0	0	0	0	1	0	0	0	7846	826	29	3	399	3	IQSEC3	12	176445	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09		176445	133675450	207	6759											
KDM5A	5927	genome.wustl.edu	37	chr12	431719	431719	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcttccagcattactcGcaattcaatcaaatctgtaa	14	12	4	11	1	4	0	2	0	2	0	6	0	5	0	1	0	3	4	1	0	5	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:431719G>A	ENST00000399788.2	-	17	2652	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	KDM5A_ENST00000382815.4_Nonsense_Mutation_p.R764*	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	764					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGCATTACTCGCAATTCAATC	0.373			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													109	107	107					12																	431719		1820	4078	5898	SO:0001587	stop_gained	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.2290C>T	12.37:g.431719G>A	ENSP00000382688:p.Arg764*		A8MV76|Q4LE72|Q86XZ1	Nonsense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R764*	ENST00000399788.2	37	c.2290	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	43	10.359199	0.99390	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	.	.	.	5.82	3.78	0.43462	.	0.124212	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3378	12.2135	0.54394	0.0:0.0:0.3976:0.6024	.	.	.	.	X	383;723;764;764;383	.	ENSP00000261253:R383X	R	-	1	2	KDM5A	301980	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.795000	0.55499	1.392000	0.46585	0.655000	0.94253	CGA	KDM5A	-	pfam_Lys_sp_deMease_like_dom	ENSG00000073614		0.373	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	-	0	21	0	G	NM_005056		431719	-1	tier1	-	no_errors	ENST00000399788	ensembl	human	known	74_37	nonsense	20.83	19	5	SNP	1.000	A	A	431719	G	A	431719	4	1	26	1	0	0	0	0	0	1	0	0	8160	1095	38	1	2830	1	KDM5A	12	431719	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	255274	431719	133420176	208	6760											
EMP1	2012	genome.wustl.edu	37	chr12	13364445	13364446	+	Start_Codon_Ins	INS	-	-	T																															caaaaaaaaaagagccaacaINStgttggtattgctggctggt																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:13364445_13364446insT	ENST00000256951.5	+	0	200_201				EMP1_ENST00000396301.3_Start_Codon_Ins|EMP1_ENST00000544053.1_Intron|EMP1_ENST00000431267.2_Intron|EMP1_ENST00000537612.1_Start_Codon_Ins|EMP1_ENST00000542289.1_3'UTR	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1						cell growth (GO:0016049)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AAGAGCCAACATGTTGGTATTG	0.371																																																	0																																										SO:0001582	initiator_codon_variant	0			U43916	CCDS8660.1	12p12.3	2008-08-04				ENSG00000134531			3333	protein-coding gene	gene with protein product		602333				8996089, 9126480	Standard	NM_001423		Approved	TMP, CL-20	uc001rbr.3	P54849		ENST00000256951.5:c.2dupT	12.37:g.13364446_13364446dupT			B2R5N1|B4DRR1|O00681|Q13481|Q13834	Frame_Shift_Ins	INS	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1	p.M1fs	ENST00000256951.5	37	c.1_2	CCDS8660.1	12																																																																																			EMP1	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000134531		0.371	EMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP1	HGNC	protein_coding	OTTHUMT00000401019.1		0	66	0	-	NM_001423		13364446	1	tier1		no_errors	ENST00000256951	ensembl	human	known	74_37	frame_shift_ins	33.33	26	13	INS	1.000:1.000	T	T	13364446	-	T	13364445	7	5	26	1	0	1	1	0	0	0	0	0	5117	217	8	0	3	0	EMP1	12	13364445	Start_Codon_Ins	INS	-	TCGA-IG-A5B8-01A-11D-A28B-09	12932726	13364445	120487450	209	6761											
ATF7IP	55729	genome.wustl.edu	37	chr12	14589064	14589064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttctagacgaaaacgttCtaaatcagaagacatggaca	17	10	7	7	2	3	3	1	0	2	3	3	5	3	4	0	1	1	1	0	1	6	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:14589064C>G	ENST00000540793.1	+	3	1825	c.1670C>G	c.(1669-1671)tCt>tGt	p.S557C	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S556C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S557C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S565C|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S556C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	557	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CGAAAACGTTCTAAATCAGAA	0.363																																																	0													92	89	90					12																	14589064		2203	4300	6503	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1670C>G	12.37:g.14589064C>G	ENSP00000444589:p.Ser557Cys		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S557C	ENST00000540793.1	37	c.1670	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395517	0.83011	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.23348	1.91;1.94;1.91;1.91;1.91	5.48	5.48	0.80851	.	0.000000	0.56097	D	0.000038	T	0.50411	0.1614	L	0.56769	1.78	0.50467	D	0.999875	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.994;0.994;0.999;0.999	T	0.48139	-0.9061	10	0.87932	D	0	-16.3455	19.2901	0.94095	0.0:1.0:0.0:0.0	.	565;556;556;557;556;168	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	C	557;556;556;565;557	ENSP00000261168:S557C;ENSP00000443179:S556C;ENSP00000445955:S556C;ENSP00000440440:S565C;ENSP00000444589:S557C	ENSP00000261168:S557C	S	+	2	0	ATF7IP	14480331	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.104000	0.64584	2.728000	0.93425	0.585000	0.79938	TCT	ATF7IP	-	NULL	ENSG00000171681		0.363	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	0	16	0	C	NM_018179		14589064	1	tier1	-	no_errors	ENST00000261168	ensembl	human	known	74_37	missense	50.00	9	9	SNP	1.000	G	G	14589064	C	G	14589064	3	3	26	1	0	0	0	0	1	0	0	0	1088	913	32	5	1680	5	ATF7IP	12	14589064	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1224619	14589064	119262831	210	6762											
ABCC9	10060	genome.wustl.edu	37	chr12	21981923	21981923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagccatctgttggcagctGagagaaataagtaggcaatg	13	8	12	8	0	1	2	0	1	1	1	1	3	1	2	2	2	2	5	2	2	4	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:21981923G>A	ENST00000261201.4	-	29	3637	c.3638C>T	c.(3637-3639)tCa>tTa	p.S1213L	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1213L|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1177L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1213	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTTGGCAGCTGAGAGAAATAA	0.438																																																	0													222	198	206					12																	21981923		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3638C>T	12.37:g.21981923G>A	ENSP00000261201:p.Ser1213Leu		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S1213L	ENST00000261201.4	37	c.3638	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303476	0.60195	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.87650	-2.28;-1.63;-2.28;-2.28	4.2	4.2	0.49525	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	N	0.11341	0.13	0.80722	D	1	B;B	0.23854	0.009;0.092	B;B	0.17433	0.017;0.018	T	0.70619	-0.4822	10	0.18276	T	0.48	-1.5765	17.0962	0.86635	0.0:0.0:1.0:0.0	.	1213;1213	O60706;O60706-2	ABCC9_HUMAN;.	L	1213;840;1213;1177	ENSP00000261200:S1213L;ENSP00000440521:S840L;ENSP00000261201:S1213L;ENSP00000261202:S1177L	ENSP00000261200:S1213L	S	-	2	0	ABCC9	21873190	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.131000	0.94446	2.331000	0.79229	0.467000	0.42956	TCA	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000069431		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	33	0	G	NM_005691		21981923	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A	A	21981923	G	A	21981923	3	1	26	1	0	0	0	0	1	0	0	0	59	1294	45	3	1193	3	ABCC9	12	21981923	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	7392859	21981923	111869972	211	6763											
FGD4	121512	genome.wustl.edu	37	chr12	32754265	32754265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaggctcgtttccagcagaGatggtgaataaaatcttttc	11	12	10	8	2	1	2	0	1	1	1	4	4	2	2	1	2	1	3	1	2	3	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:32754265G>C	ENST00000427716.2	+	6	1168	c.744G>C	c.(742-744)gaG>gaC	p.E248D	FGD4_ENST00000531134.1_Missense_Mutation_p.E333D|FGD4_ENST00000546442.1_Missense_Mutation_p.E155D|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.E360D|FGD4_ENST00000534526.2_Missense_Mutation_p.E385D	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	248	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTCCAGCAGAGATGGTGAATA	0.353																																																	0													74	85	81					12																	32754265		2203	4300	6503	SO:0001583	missense	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.744G>C	12.37:g.32754265G>C	ENSP00000394487:p.Glu248Asp		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E248D	ENST00000427716.2	37	c.744	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	G	11.30	1.599496	0.28534	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000546442;ENST00000525053	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.86	4.86	0.63082	Dbl homology (DH) domain (5);	0.000000	0.50627	D	0.000116	T	0.37652	0.1011	N	0.11106	0.095	0.80722	D	1	B;B;P	0.35307	0.066;0.016;0.494	B;B;B	0.37550	0.169;0.139;0.253	T	0.25328	-1.0135	10	0.15066	T	0.55	-19.6486	5.7718	0.18257	0.2301:0.0:0.7699:0.0	.	360;333;248	E9PJX4;B7Z493;Q96M96	.;.;FGD4_HUMAN	D	385;333;248;155;360	ENSP00000449273:E385D;ENSP00000431323:E333D;ENSP00000394487:E248D;ENSP00000446695:E155D;ENSP00000433666:E360D	ENSP00000394487:E248D	E	+	3	2	FGD4	32645532	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.744000	0.26245	2.517000	0.84864	0.561000	0.74099	GAG	FGD4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000139132		0.353	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	-	0	40	0	G	NM_139241		32754265	1	tier1	-	no_errors	ENST00000427716	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	C	C	32754265	G	C	32754265	3	2	26	1	0	0	0	0	1	0	0	0	5857	933	33	5	758	5	FGD4	12	32754265	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	10772342	32754265	101097630	212	6764											
PKP2	5318	genome.wustl.edu	37	chr12	32975511	32975511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatatttctctgggagctCtgcctccagctggtaggaga	8	11	13	9	0	2	1	0	0	2	1	4	4	3	3	2	4	3	3	2	4	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:32975511C>G	ENST00000070846.6	-	9	1885	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	PKP2_ENST00000340811.4_Missense_Mutation_p.E577Q	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	621					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.E621K(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTGGGAGCTCTGCCTCCAGC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											96	94	95					12																	32975511		2203	4300	6503	SO:0001583	missense	0			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"Armadillo repeat containing"	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1861G>C	12.37:g.32975511C>G	ENSP00000070846:p.Glu621Gln		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E621Q	ENST00000070846.6	37	c.1861	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861864	0.51482	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	D;D	0.84070	-1.8;-1.8	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.057793	0.64402	D	0.000002	D	0.83008	0.5161	M	0.77103	2.36	0.46131	D	0.998888	B;B;P	0.34955	0.288;0.19;0.477	B;B;B	0.31390	0.129;0.061;0.091	D	0.85073	0.0941	10	0.62326	D	0.03	0.2032	16.6153	0.84909	0.0:1.0:0.0:0.0	.	577;577;621	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	Q	577;621;621	ENSP00000342800:E577Q;ENSP00000070846:E621Q	ENSP00000070846:E621Q	E	-	1	0	PKP2	32866778	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.669000	0.61575	2.328000	0.79073	0.563000	0.77884	GAG	PKP2	-	superfamily_ARM-type_fold	ENSG00000057294		0.413	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1		0	45	0	C	NM_004572		32975511	-1			no_errors	ENST00000070846	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G	G	32975511	C	G	32975511	3	3	26	1	0	0	0	0	1	0	0	0	12024	922	32	5	808	5	PKP2	12	32975511	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	221246	32975511	100876384	213	6765											
LASS5	91012	genome.wustl.edu	37	chr12	50524336	50524336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagcaaccaccttactcttCagcccagtagctgcctccca	10	9	5	17	0	2	0	1	0	1	0	3	0	3	0	5	0	6	3	5	0	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:50524336C>T	ENST00000317551.6	-	10	1295	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	CERS5_ENST00000422340.2_Missense_Mutation_p.E333K	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	391					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTTACTCTTCAGCCCAGTAG	0.517																																																	0													232	190	204					12																	50524336		2203	4300	6503	SO:0001583	missense	0				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.1171G>A	12.37:g.50524336C>T	ENSP00000325485:p.Glu391Lys		B4DV54	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.E391K	ENST00000317551.6	37	c.1171	CCDS8801.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541848	0.85917	.	.	ENSG00000139624	ENST00000317551;ENST00000422340	T;T	0.12879	2.83;2.64	5.11	4.16	0.48862	.	0.578885	0.17809	N	0.161269	T	0.23410	0.0566	M	0.75447	2.3	0.47065	D	0.999303	P;P	0.49635	0.926;0.819	P;B	0.44394	0.448;0.334	T	0.08680	-1.0710	10	0.62326	D	0.03	-7.2735	16.5011	0.84256	0.0:0.8691:0.1309:0.0	.	333;391	B4DV54;Q8N5B7	.;CERS5_HUMAN	K	391;333	ENSP00000325485:E391K;ENSP00000389050:E333K	ENSP00000325485:E391K	E	-	1	0	CERS5	48810603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.601000	0.46249	2.832000	0.97577	0.655000	0.94253	GAA	CERS5	-	NULL	ENSG00000139624		0.517	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS5	HGNC	protein_coding	OTTHUMT00000406069.3	-	0	58	0	C	NM_147190		50524336	-1	tier1	-	no_errors	ENST00000317551	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	T	T	50524336	C	T	50524336	3	4	26	1	0	0	0	0	1	0	0	0	8670	835	29	3	11	3	LASS5	12	50524336	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	17548825	50524336	83327559	214	6766											
AAAS	8086	genome.wustl.edu	37	chr12	53703390	53703390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggacccactcacccggaTagcagcatccacgggtgaag	11	4	12	14	2	1	1	1	1	0	0	2	3	2	3	3	3	2	2	3	3	2	1	rs567219779		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:53703390T>C	ENST00000209873.4	-	8	970	c.805A>G	c.(805-807)Atc>Gtc	p.I269V	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.I236V|AAAS_ENST00000550286.1_Missense_Mutation_p.I145V	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	269					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)		p.I269V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTCACCCGGATAGCAGCATCC	0.607																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											33	40	38					12																	53703390		2203	4300	6503	SO:0001583	missense	0			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.805A>G	12.37:g.53703390T>C	ENSP00000209873:p.Ile269Val		Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I269V	ENST00000209873.4	37	c.805	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	T	13.85	2.358836	0.41801	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.55	1.92	0.25849	WD40/YVTN repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.128212	0.64402	N	0.000001	T	0.38692	0.1050	N	0.16307	0.4	0.33964	D	0.646034	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.34354	-0.9832	10	0.15066	T	0.55	-21.3213	8.1057	0.30885	0.0:0.2401:0.0:0.7599	.	236;269	Q5JB47;Q9NRG9	.;AAAS_HUMAN	V	269;236;145;236	ENSP00000209873:I269V;ENSP00000377908:I236V;ENSP00000446885:I145V;ENSP00000448020:I236V	ENSP00000209873:I269V	I	-	1	0	AAAS	51989657	1.000000	0.71417	0.918000	0.36340	0.939000	0.58152	2.384000	0.44362	0.489000	0.27749	0.374000	0.22700	ATC	AAAS	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000094914		0.607	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1		0	13	0	T			53703390	-1			no_errors	ENST00000209873	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.948	C	C	53703390	T	C	53703390	3	2	26	1	0	0	0	0	1	0	0	0	8	1406	49	4	871	4	AAAS	12	53703390	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	3179054	53703390	80148505	215	6767											
NAB2	4665	genome.wustl.edu	37	chr12	57486239	57486239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctccacagctcaccatCaacgaggctgctgcccagtt	8	8	7	18	1	2	0	2	0	0	0	4	1	4	0	4	1	4	4	4	1	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:57486239C>T	ENST00000300131.3	+	3	1344	c.966C>T	c.(964-966)atC>atT	p.I322I	NAB2_ENST00000357680.4_Intron|NAB2_ENST00000342556.6_Silent_p.I322I	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	322	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTCACCATCAACGAGGCTG	0.567																																																	0													118	100	107					12																	57486239		2203	4300	6503	SO:0001819	synonymous_variant	0			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.966C>T	12.37:g.57486239C>T			B2RAK3|O76006|Q14797	Silent	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.I322	ENST00000300131.3	37	c.966	CCDS8930.1	12																																																																																			NAB2	-	pfam_NAB_co-repressor_dom	ENSG00000166886		0.567	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	-	0	40	0	C	NM_005967		57486239	1	tier1	-	no_errors	ENST00000300131	ensembl	human	known	74_37	silent	16.28	36	7	SNP	1.000	T	T	57486239	C	T	57486239	2	4	26	1	0	0	0	0	0	0	0	1	10170	816	29	3		3	NAB2	12	57486239	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3782849	57486239	76365656	216	6768											
OS9	10956	genome.wustl.edu	37	chr12	58112103	58112103	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagttactgggagaatttGagaaggaactggaagggatc	13	8	16	4	0	0	2	0	1	0	2	1	7	0	5	0	5	2	2	0	5	5	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:58112103G>C	ENST00000315970.7	+	11	1350	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	OS9_ENST00000552285.1_Missense_Mutation_p.E437Q|OS9_ENST00000413095.2_Missense_Mutation_p.E231Q|OS9_ENST00000551035.1_Missense_Mutation_p.E405Q|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Missense_Mutation_p.E438Q|OS9_ENST00000389146.6_Missense_Mutation_p.E437Q|OS9_ENST00000435406.2_Missense_Mutation_p.E385Q|OS9_ENST00000389142.5_Missense_Mutation_p.E437Q|OS9_ENST00000439210.2_Missense_Mutation_p.E378Q	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	437					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAGAATTTGAGAAGGAACT	0.537																																																	0													218	191	200					12																	58112103		2203	4300	6503	SO:0001583	missense	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1309G>C	12.37:g.58112103G>C	ENSP00000318165:p.Glu437Gln		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E437Q	ENST00000315970.7	37	c.1309	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017802	0.93404	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.54279	0.98;1.37;1.8;1.82;0.95;0.64;0.97;0.58;1.81	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63295	0.2499	L	0.32530	0.975	0.53688	D	0.999977	D;D;D;D;D;D;D;D	0.89917	0.993;1.0;0.997;1.0;0.993;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.91635	0.968;0.997;0.994;0.999;0.968;0.998;0.998;0.993	T	0.56463	-0.7975	10	0.29301	T	0.29	.	18.4191	0.90582	0.0:0.0:1.0:0.0	.	378;405;231;438;437;437;437;437	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	Q	437;437;378;437;231;405;438;385;437	ENSP00000450010:E437Q;ENSP00000318165:E437Q;ENSP00000407360:E378Q;ENSP00000373798:E437Q;ENSP00000413112:E231Q;ENSP00000447866:E405Q;ENSP00000257966:E438Q;ENSP00000389632:E385Q;ENSP00000373794:E437Q	ENSP00000257966:E438Q	E	+	1	0	OS9	56398370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.510000	0.73729	2.884000	0.98904	0.655000	0.94253	GAG	OS9	-	NULL	ENSG00000135506		0.537	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	-	0	32	0	G	NM_006812		58112103	1	tier1	-	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	C	C	58112103	G	C	58112103	3	2	26	1	0	0	0	0	1	0	0	0	11311	1291	45	5	1351	5	OS9	12	58112103	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	625864	58112103	75739792	217	6769											
HAL	3034	genome.wustl.edu	37	chr12	96389545	96389545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaagtgcgcgtcatcCacggaggtgaagccaccatt	12	6	12	11	3	1	1	1	1	0	0	2	3	2	3	3	3	2	0	3	3	3	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:96389545C>T	ENST00000261208.3	-	2	512	c.144G>A	c.(142-144)gtG>gtA	p.V48V	HAL_ENST00000541929.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA|HAL_ENST00000538703.1_Silent_p.V48V	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	48					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GCGCGTCATCCACGGAGGTGA	0.642																																					NSCLC(169;943 2815 23563 30031)												0													63	55	58					12																	96389545		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.144G>A	12.37:g.96389545C>T			B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.V48	ENST00000261208.3	37	c.144	CCDS9058.1	12																																																																																			HAL	-	NULL	ENSG00000084110		0.642	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	-	0	30	0	C			96389545	-1	tier1	-	no_errors	ENST00000261208	ensembl	human	known	74_37	silent	14.71	29	5	SNP	1.000	T	T	96389545	C	T	96389545	2	4	26	1	0	0	0	0	0	0	0	1	6974	581	21	3		3	HAL	12	96389545	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	38277442	96389545	37462350	218	6770											
BTBD11	121551	genome.wustl.edu	37	chr12	108051486	108051486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcgtcttccaaaggttcCgtggtatgaaacgcctagtg	8	13	11	9	3	1	1	0	1	1	0	4	1	3	1	3	2	1	2	3	2	4	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:108051486C>T	ENST00000280758.5	+	17	3834	c.3306C>T	c.(3304-3306)tcC>tcT	p.S1102S	BTBD11_ENST00000494235.2_Silent_p.S181S|BTBD11_ENST00000357167.4_Silent_p.S639S|BTBD11_ENST00000420571.2_Silent_p.S983S	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1102						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCAAAGGTTCCGTGGTATGAA	0.517																																																	0													97	86	89					12																	108051486		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3306C>T	12.37:g.108051486C>T			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.S1102	ENST00000280758.5	37	c.3306	CCDS31893.1	12																																																																																			BTBD11	-	NULL	ENSG00000151136		0.517	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	-	0	43	0	C	NM_152322		108051486	1	tier1	-	no_errors	ENST00000280758	ensembl	human	known	74_37	silent	14.29	29	5	SNP	0.340	T	T	108051486	C	T	108051486	2	4	26	1	0	0	0	0	0	0	0	1	1543	639	23	1		1	BTBD11	12	108051486	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	11661941	108051486	25800409	219	6771											
ACACB	32	genome.wustl.edu	37	chr12	109647044	109647044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctggagctgcaggagatCatgaccagcgtggcaggccg	8	6	16	11	2	1	2	1	1	0	1	1	4	1	3	2	4	4	4	2	4	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:109647044C>T	ENST00000338432.7	+	21	3254	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	ACACB_ENST00000377854.5_Silent_p.I1045I|ACACB_ENST00000377848.3_Silent_p.I1045I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1045					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGCAGGAGATCATGACCAGCG	0.637																																																	0													37	31	33					12																	109647044		2203	4300	6503	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3135C>T	12.37:g.109647044C>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I1045	ENST00000338432.7	37	c.3135	CCDS31898.1	12																																																																																			ACACB	-	pfam_AcCoA_COase_cen	ENSG00000076555		0.637	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	82	0	C	NM_001093		109647044	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	silent	14.81	69	12	SNP	1.000	T	T	109647044	C	T	109647044	2	4	26	1	0	0	0	0	0	0	0	1	107	816	29	3		3	ACACB	12	109647044	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1595558	109647044	24204851	220	6772											
RNFT2	84900	genome.wustl.edu	37	chr12	117204678	117204678	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctggcggggaacaccctCtatgtgctttatacattcag	8	14	9	10	1	3	0	1	0	2	0	3	1	3	1	1	3	3	1	1	3	4	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:117204678C>G	ENST00000257575.4	+	6	920	c.687C>G	c.(685-687)ctC>ctG	p.L229L	RNFT2_ENST00000392549.2_Silent_p.L229L|RNFT2_ENST00000407967.3_Silent_p.L229L|RNFT2_ENST00000319176.7_Silent_p.L229L			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	229						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GGAACACCCTCTATGTGCTTT	0.537																																																	0													129	91	104					12																	117204678		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.687C>G	12.37:g.117204678C>G			E9PAM7|Q96SU5	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L229	ENST00000257575.4	37	c.687	CCDS44987.1	12																																																																																			RNFT2	-	NULL	ENSG00000135119		0.537	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	HGNC	protein_coding	OTTHUMT00000320417.1	-	0	63	0	C	NM_032814		117204678	1	tier1	-	no_errors	ENST00000257575	ensembl	human	known	74_37	silent	18.57	57	13	SNP	0.580	G	G	117204678	C	G	117204678	2	3	26	1	0	0	0	0	0	0	0	1	13547	900	32	5		5	RNFT2	12	117204678	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	7557634	117204678	16647217	221	6773											
SPPL3	121665	genome.wustl.edu	37	chr12	121202843	121202843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctggacttggagtggaAaggctcagaccacatccgcc	9	7	13	12	1	1	1	1	0	0	1	2	4	2	4	3	4	1	3	3	4	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:121202843A>G	ENST00000353487.2	-	11	1617	c.1114T>C	c.(1114-1116)Ttc>Ctc	p.F372L		NM_139015.4	NP_620584.2	Q8TCT6	SPPL3_HUMAN	signal peptide peptidase like 3	373						Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGGAGTGGAAAGGCTCAGAC	0.488																																																	0													71	64	67					12																	121202843		2203	4300	6503	SO:0001583	missense	0				CCDS9208.1	12q24.31	2012-02-21			ENSG00000157837	ENSG00000157837			30424	protein-coding gene	gene with protein product	"intramembrane protease 2", "presenilin-like protein 4"	608240				12139484	Standard	NM_139015		Approved	IMP2, PSL4, MGC90402, MGC126674, MGC126676, DKFZP586C1324	uc001tzd.3	Q8TCT6	OTTHUMG00000169232	ENST00000353487.2:c.1114T>C	12.37:g.121202843A>G	ENSP00000288680:p.Phe372Leu		Q3MJ04|Q8TAU4|Q96DD9	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.F372L	ENST00000353487.2	37	c.1114	CCDS9208.1	12	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478302	0.44044	.	.	ENSG00000157837	ENST00000353487;ENST00000405631	T	0.17691	2.26	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.31888	0.0811	M	0.65498	2.005	0.80722	D	1	D;B	0.64830	0.994;0.149	P;B	0.54401	0.751;0.048	T	0.03166	-1.1065	10	0.28530	T	0.3	-35.1902	15.477	0.75489	1.0:0.0:0.0:0.0	.	373;372	Q8TCT6;Q3MJ04	PSL4_HUMAN;.	L	372;371	ENSP00000288680:F372L	ENSP00000288680:F372L	F	-	1	0	AC069214.1	119687226	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	8.730000	0.91510	2.108000	0.64289	0.533000	0.62120	TTC	SPPL3	-	NULL	ENSG00000157837		0.488	SPPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL3	HGNC	protein_coding	OTTHUMT00000402980.2		0	14	0	A	NM_139015		121202843	-1			no_errors	ENST00000353487	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.998	G	G	121202843	A	G	121202843	3	3	26	1	0	0	0	0	1	0	0	0	15137	14	1	4	44	4	SPPL3	12	121202843	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	3998165	121202843	12649052	222	6774											
RILPL2	196383	genome.wustl.edu	37	chr12	123907666	123907666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccacagcatctttttctCttcttcctcctgggccttct	5	17	4	15	0	4	0	0	0	4	0	7	0	6	0	4	1	2	1	4	1	1	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:123907666C>A	ENST00000280571.8	-	3	826	c.530G>T	c.(529-531)aGa>aTa	p.R177I		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	177					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|primary cilium (GO:0072372)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		ATCTTTTTCTCTTCTTCCTCC	0.413																																																	0													168	155	160					12																	123907666		2203	4300	6503	SO:0001583	missense	0			AB085763	CCDS9248.1	12q24.31	2007-11-27				ENSG00000150977			28787	protein-coding gene	gene with protein product		614093				14668488	Standard	NM_145058		Approved	MGC7036, FLJ30380, FLJ32372	uc001uey.1	Q969X0		ENST00000280571.8:c.530G>T	12.37:g.123907666C>A	ENSP00000280571:p.Arg177Ile			Missense_Mutation	SNP	pfam_RILP	p.R177I	ENST00000280571.8	37	c.530	CCDS9248.1	12	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204037	0.38905	.	.	ENSG00000150977	ENST00000280571	T	0.44482	0.92	5.06	2.24	0.28232	.	0.687691	0.14704	N	0.303400	T	0.33731	0.0873	L	0.51422	1.61	0.09310	N	1	P	0.40515	0.719	B	0.39217	0.294	T	0.13202	-1.0518	10	0.42905	T	0.14	.	5.8952	0.18935	0.0:0.5358:0.2968:0.1674	.	177	Q969X0	RIPL2_HUMAN	I	177	ENSP00000280571:R177I	ENSP00000280571:R177I	R	-	2	0	RILPL2	122473619	0.526000	0.26298	0.000000	0.03702	0.122000	0.20287	0.546000	0.23284	0.256000	0.21614	-0.872000	0.02987	AGA	RILPL2	-	pfam_RILP	ENSG00000150977		0.413	RILPL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL2	HGNC	protein_coding		-	0	52	0	C	NM_145058		123907666	-1	tier1	-	no_errors	ENST00000280571	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.003	A	A	123907666	C	A	123907666	3	1	26	1	0	0	0	0	1	0	0	0	13407	913	32	3	113	3	RILPL2	12	123907666	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2704823	123907666	9944229	223	6775											
EIF2B1	1967	genome.wustl.edu	37	chr12	124111668	124111668	+	Silent	SNP	C	C	T																															acggctgcttccaggactctCaggaccactctggagtaggc																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:124111668C>T	ENST00000424014.2	-	5	613	c.405G>A	c.(403-405)ctG>ctA	p.L135L	EIF2B1_ENST00000537073.1_Silent_p.L135L|EIF2B1_ENST00000539951.1_Silent_p.L122L	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	135					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CCAGGACTCTCAGGACCACTC	0.522																																																	0													130	111	117					12																	124111668		2203	4300	6503	SO:0001819	synonymous_variant	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.405G>A	12.37:g.124111668C>T			A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	pfam_IF-2B-related	p.L135	ENST00000424014.2	37	c.405	CCDS31924.1	12																																																																																			EIF2B1	-	pfam_IF-2B-related	ENSG00000111361		0.522	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	-	0	46	0	C	NM_001414		124111668	-1	tier1	-	no_errors	ENST00000424014	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.156	T	T	124111668	C	T	124111668	2	4	26	1	0	0	0	0	0	0	0	1	5014	813	29	3		3	EIF2B1	12	124111668	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	204002	124111668	9740227	224	6776	25	2									
EIF2B1	1967	genome.wustl.edu	37	chr12	124111678	124111678	+	Missense_Mutation	SNP	C	C	T																															ccaggactctcaggaccactCtggagtaggcgtgagtcaat																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:124111678C>T	ENST00000424014.2	-	5	603	c.395G>A	c.(394-396)aGa>aAa	p.R132K	EIF2B1_ENST00000537073.1_Missense_Mutation_p.R132K|EIF2B1_ENST00000539951.1_Missense_Mutation_p.R119K	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	132					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CAGGACCACTCTGGAGTAGGC	0.547																																																	0													126	107	113					12																	124111678		2203	4300	6503	SO:0001583	missense	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.395G>A	12.37:g.124111678C>T	ENSP00000416250:p.Arg132Lys		A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	pfam_IF-2B-related	p.R132K	ENST00000424014.2	37	c.395	CCDS31924.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965797	0.92855	.	.	ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073	D;D;D;D	0.94457	-3.43;-2.88;-2.88;-2.88	5.72	5.72	0.89469	.	0.043163	0.85682	D	0.000000	D	0.92701	0.7680	M	0.64170	1.965	0.58432	D	0.999996	P;B;B	0.39022	0.655;0.157;0.066	B;B;B	0.41202	0.35;0.052;0.149	D	0.90322	0.4345	10	0.30854	T	0.27	-25.8174	10.3132	0.43721	0.0:0.855:0.0:0.145	.	132;119;132	B4DGX0;F5H0D0;Q14232	.;.;EI2BA_HUMAN	K	132;132;119;132	ENSP00000416250:R132K;ENSP00000228958:R132K;ENSP00000438060:R119K;ENSP00000444183:R132K	ENSP00000228958:R132K	R	-	2	0	EIF2B1	122677631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.879000	0.63100	2.691000	0.91804	0.655000	0.94253	AGA	EIF2B1	-	pfam_IF-2B-related	ENSG00000111361		0.547	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	-	0	45	0	C	NM_001414		124111678	-1	tier1	-	no_errors	ENST00000424014	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	124111678	C	T	124111678	3	4	26	1	0	0	0	0	1	0	0	0	5014	913	32	3	542	3	EIF2B1	12	124111678	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	10	124111678	9740217	225	6777	25	2									
DNAH10	196385	genome.wustl.edu	37	chr12	124343712	124343712	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaggtggataaagtggttCaaatgttcgagaccatgtta	12	11	12	6	2	1	1	1	0	0	1	2	3	1	2	1	3	0	4	1	3	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr12:124343712C>T	ENST00000409039.3	+	37	6317	c.6292C>T	c.(6292-6294)Caa>Taa	p.Q2098*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2098	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAAAGTGGTTCAAATGTTCGA	0.507																																																	0													40	40	40					12																	124343712		1884	4113	5997	SO:0001587	stop_gained	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6292C>T	12.37:g.124343712C>T	ENSP00000386770:p.Gln2098*		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.Q2098*	ENST00000409039.3	37	c.6292	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	40	8.014800	0.98610	.	.	ENSG00000197653	ENST00000409039	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	U	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.2541	0.93938	0.0:1.0:0.0:0.0	.	.	.	.	X	2098	.	ENSP00000386770:Q2098X	Q	+	1	0	DNAH10	122909665	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.789000	0.85783	2.541000	0.85698	0.558000	0.71614	CAA	DNAH10	-	superfamily_P-loop_NTPase	ENSG00000197653		0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	55	0	C			124343712	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	nonsense	15.09	44	8	SNP	1.000	T	T	124343712	C	T	124343712	4	4	26	1	0	0	0	0	0	1	0	0	4612	827	29	3	6438	3	DNAH10	12	124343712	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	232034	124343712	9508183	226	6778											
SMAD9	4093	genome.wustl.edu	37	chr13	37422854	37422854	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttatgtggagagcccatctGagtcagaactttgtccagcc	9	11	11	10	0	2	3	1	1	1	2	3	4	3	3	3	1	3	1	3	1	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr13:37422854G>A	ENST00000399275.2	-	6	1502	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	SMAD9-AS1_ENST00000437983.2_RNA|SMAD9_ENST00000379826.4_Nonsense_Mutation_p.Q455*|SMAD9_ENST00000350148.5_Nonsense_Mutation_p.Q418*			O15198	SMAD9_HUMAN	SMAD family member 9	455	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCCCATCTGAGTCAGAACT	0.498																																																	0													179	174	176					13																	37422854		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1363C>T	13.37:g.37422854G>A	ENSP00000382216:p.Gln455*		A2A2Y6|O14989|Q5TBA1	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q455*	ENST00000399275.2	37	c.1363	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	G	41	8.658060	0.98903	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.6096	0.91279	0.0:0.0:1.0:0.0	.	.	.	.	X	455;418;455	.	ENSP00000239885:Q418X	Q	-	1	0	SMAD9	36320854	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.740000	0.98839	2.711000	0.92665	0.561000	0.74099	CAG	SMAD9	-	superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type	ENSG00000120693		0.498	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	-	0	29	0	G	NM_005905		37422854	-1	tier1	-	no_errors	ENST00000379826	ensembl	human	known	74_37	nonsense	33.33	20	10	SNP	1.000	A	A	37422854	G	A	37422854	4	1	26	1	0	0	0	0	0	1	0	0	14809	1299	45	3	44	3	SMAD9	13	37422854	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		37422854	77747024	227	6779											
ATP7B	540	genome.wustl.edu	37	chr13	52542702	52542702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgggtcatacttgatctCtgcctttcctgccatcaagg	6	14	8	13	0	4	1	2	1	2	0	6	1	5	1	3	2	3	0	3	2	2	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr13:52542702C>G	ENST00000242839.4	-	4	1741	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	ATP7B_ENST00000344297.5_Missense_Mutation_p.E529Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.E418Q|ATP7B_ENST00000448424.2_Missense_Mutation_p.E529Q|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.E529Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	529	HMA 5. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TACTTGATCTCTGCCTTTCCT	0.557									Wilson disease																																								0													115	116	116					13																	52542702		2078	4191	6269	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1585G>C	13.37:g.52542702C>G	ENSP00000242839:p.Glu529Gln		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.E529Q	ENST00000242839.4	37	c.1585	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609261	0.66558	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.68	4.83	0.62350	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.955;0.999;0.998;0.991;0.999	D	0.91116	0.4926	10	0.72032	D	0.01	-31.5398	15.9932	0.80223	0.1358:0.8642:0.0:0.0	.	529;529;529;418;529;529	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	Q	529;418;529;529;529	ENSP00000242839:E529Q;ENSP00000383217:E418Q;ENSP00000342559:E529Q;ENSP00000416738:E529Q;ENSP00000393343:E529Q	ENSP00000242839:E529Q	E	-	1	0	ATP7B	51440703	1.000000	0.71417	0.998000	0.56505	0.282000	0.26991	7.376000	0.79658	1.403000	0.46800	-0.181000	0.13052	GAG	ATP7B	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd	ENSG00000123191		0.557	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	-	0	25	0	C	NM_000053		52542702	-1	tier1	-	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	G	G	52542702	C	G	52542702	3	3	26	1	0	0	0	0	1	0	0	0	1192	922	32	5	2884	5	ATP7B	13	52542702	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	15119848	52542702	62627176	228	6780											
UTP14C	9724	genome.wustl.edu	37	chr13	52604065	52604065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaccgaatccctggatgttCaggagctgcaccagtgacac	10	7	12	12	1	1	1	1	1	0	0	2	5	2	4	3	3	2	3	3	3	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr13:52604065C>T	ENST00000521776.2	+	2	1858	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	375					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCTGGATGTTCAGGAGCTGCA	0.542																																																	0													101	87	92					13																	52604065		2203	4300	6503	SO:0001819	synonymous_variant	0			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1125C>T	13.37:g.52604065C>T			Q5FWG3|Q92555	Silent	SNP	pfam_SSU_processome_Utp14	p.F375	ENST00000521776.2	37	c.1125	CCDS31978.1	13																																																																																			UTP14C	-	pfam_SSU_processome_Utp14	ENSG00000253797		0.542	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	-	0	22	0	C	NM_021645		52604065	1	tier1	-	no_errors	ENST00000521776	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.806	T	T	52604065	C	T	52604065	2	4	26	1	0	0	0	0	0	0	0	1	17145	825	29	3		3	UTP14C	13	52604065	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	61363	52604065	62565813	229	6781											
FARP1	10160	genome.wustl.edu	37	chr13	99087937	99087937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagatttgattggcattGacaatcttgtggttccggga	11	13	12	5	1	1	4	0	2	1	2	2	5	2	5	1	3	0	2	1	3	2	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr13:99087937G>T	ENST00000319562.6	+	19	2516	c.2251G>T	c.(2251-2253)Gac>Tac	p.D751Y	FARP1-AS1_ENST00000432229.1_RNA|FARP1_ENST00000595437.1_Missense_Mutation_p.D751Y|FARP1_ENST00000376586.2_Missense_Mutation_p.D751Y	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	751					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GATTGGCATTGACAATCTTGT	0.512																																																	0													132	119	123					13																	99087937		2203	4300	6503	SO:0001583	missense	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2251G>T	13.37:g.99087937G>T	ENSP00000322926:p.Asp751Tyr		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.D751Y	ENST00000319562.6	37	c.2251	CCDS9487.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.654256|4.654256	0.88056|0.88056	.|.	.|.	ENSG00000152767|ENSG00000152767	ENST00000376586;ENST00000319562|ENST00000423063	T;T|.	0.65178|.	-0.14;-0.14|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Pleckstrin homology-type (1);|.	0.097281|.	0.64402|.	D|.	0.000001|.	T|T	0.74913|0.74913	0.3779|0.3779	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.985;0.997|.	T|T	0.71481|0.71481	-0.4580|-0.4580	10|5	0.87932|.	D|.	0|.	.|.	20.063|20.063	0.97692|0.97692	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	751;751|.	Q9Y4F1;C9JME2|.	FARP1_HUMAN;.|.	Y|F	751|53	ENSP00000365771:D751Y;ENSP00000322926:D751Y|.	ENSP00000322926:D751Y|.	D|L	+|+	1|3	0|2	FARP1|FARP1	97885938|97885938	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.788000|0.788000	0.44548|0.44548	9.441000|9.441000	0.97557|0.97557	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAC|TTG	FARP1	-	NULL	ENSG00000152767		0.512	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	23	0	G	NM_005766		99087937	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	61.54	10	16	SNP	1.000	T	T	99087937	G	T	99087937	3	4	26	1	0	0	0	0	1	0	0	0	5698	1290	45	3	2544	3	FARP1	13	99087937	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	46483872	99087937	16081941	230	6782											
LRP10	26020	genome.wustl.edu	37	chr14	23345309	23345309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgaccgctgcaactaccaGactttctgtgctgatggagc	8	10	11	12	1	1	3	0	2	1	1	1	4	1	4	2	1	5	4	2	1	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:23345309G>C	ENST00000359591.4	+	5	1843	c.1152G>C	c.(1150-1152)caG>caC	p.Q384H	LRP10_ENST00000546834.1_Missense_Mutation_p.Q384H	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	384	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GCAACTACCAGACTTTCTGTG	0.612																																																	0													66	64	65					14																	23345309		2203	4300	6503	SO:0001583	missense	0			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1152G>C	14.37:g.23345309G>C	ENSP00000352601:p.Gln384His		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.Q384H	ENST00000359591.4	37	c.1152	CCDS9578.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.68|18.68	3.675649|3.675649	0.67928|0.67928	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000551466|ENST00000359591;ENST00000546834	.|D;T	.|0.87650	.|-2.28;0.98	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90916|0.90916	0.7145|0.7145	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.90563|0.90563	0.4517|0.4517	5|10	.|0.59425	.|D	.|0.04	-16.7331|-16.7331	12.5207|12.5207	0.56058|0.56058	0.0769:0.0:0.9231:0.0|0.0769:0.0:0.9231:0.0	.|.	.|384	.|Q7Z4F1	.|LRP10_HUMAN	H|H	286|384	.|ENSP00000352601:Q384H;ENSP00000447559:Q384H	.|ENSP00000352601:Q384H	D|Q	+|+	1|3	0|2	LRP10|LRP10	22415149|22415149	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.511000|2.511000	0.45476|0.45476	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAC|CAG	LRP10	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000197324		0.612	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	-	0	36	0	G			23345309	1	tier1	-	no_errors	ENST00000359591	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	C	C	23345309	G	C	23345309	3	2	26	1	0	0	0	0	1	0	0	0	8987	933	33	5	1170	5	LRP10	14	23345309	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		23345309	84004231	231	6783											
LRP10	26020	genome.wustl.edu	37	chr14	23345331	23345331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctgtgctgatggagcaGatgagagacgctgtcggcat	8	11	14	8	2	1	4	0	2	1	2	2	6	1	5	0	2	2	4	0	2	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:23345331G>A	ENST00000359591.4	+	5	1865	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	LRP10_ENST00000546834.1_Missense_Mutation_p.D392N	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	392	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGATGGAGCAGATGAGAGACG	0.607																																																	0													96	89	91					14																	23345331		2203	4300	6503	SO:0001583	missense	0			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1174G>A	14.37:g.23345331G>A	ENSP00000352601:p.Asp392Asn		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.D392N	ENST00000359591.4	37	c.1174	CCDS9578.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.8|26.8	4.772842|4.772842	0.90108|0.90108	.|.	.|.	ENSG00000197324|ENSG00000197324	ENST00000359591;ENST00000546834|ENST00000551466	D;D|.	0.95001|.	-3.58;-3.58|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.042338|.	0.85682|.	D|.	0.000000|.	T|T	0.77611|0.77611	0.4156|0.4156	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.64595|.	0.927|.	T|T	0.75596|0.75596	-0.3263|-0.3263	10|5	0.87932|.	D|.	0|.	-19.8886|-19.8886	19.1994|19.1994	0.93704|0.93704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	392|.	Q7Z4F1|.	LRP10_HUMAN|.	N|K	392|293	ENSP00000352601:D392N;ENSP00000447559:D392N|.	ENSP00000352601:D392N|.	D|R	+|+	1|2	0|0	LRP10|LRP10	22415171|22415171	1.000000|1.000000	0.71417|0.71417	0.205000|0.205000	0.23548|0.23548	0.904000|0.904000	0.53231|0.53231	7.862000|7.862000	0.87013|0.87013	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	GAT|AGA	LRP10	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000197324		0.607	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	-	0	48	0	G			23345331	1	tier1	-	no_errors	ENST00000359591	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.985	A	A	23345331	G	A	23345331	3	1	26	1	0	0	0	0	1	0	0	0	8987	942	33	3	1192	3	LRP10	14	23345331	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	22	23345331	84004209	232	6784											
TINF2	26277	genome.wustl.edu	37	chr14	24709275	24709276	+	Frame_Shift_Ins	INS	-	-	TT																															tccttcccactcacctttccINSttccccctggccattttctt																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:24709275_24709276insTT	ENST00000267415.7	-	8	1556_1557	c.1215_1216insAA	c.(1213-1218)gaaggafs	p.G406fs	TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.G371fs|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	406					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTCACCTTTCCTTCCCCCTGGC	0.505									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1214_1215dupAA	14.37:g.24709276_24709277dupTT	ENSP00000267415:p.Gly406fs		B3W5Q7|Q9H904|Q9UHC2	Frame_Shift_Ins	INS	NULL	p.G405fs	ENST00000267415.7	37	c.1216_1215	CCDS41936.1	14																																																																																			TINF2	-	NULL	ENSG00000092330		0.505	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINF2	HGNC	protein_coding	OTTHUMT00000415406.2		0	55	0	-			24709276	-1	tier1		no_errors	ENST00000267415	ensembl	human	known	74_37	frame_shift_ins	22.06	53	15	INS	0.902:0.846	TT	TT	24709276	-	TT	24709275	7	5	26	1	0	1	1	0	0	0	0	0	15970	690	24	0	147	0	TINF2	14	24709275	Frame_Shift_Ins	INS	-	TCGA-IG-A5B8-01A-11D-A28B-09	1363944	24709275	82640265	233	6785											
PRKD1	5587	genome.wustl.edu	37	chr14	30068914	30068914	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaacctgcccttttcacttGacaagatcatttccagcatg	10	12	6	13	0	2	2	2	1	0	1	3	2	3	2	3	0	3	2	3	0	2	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:30068914G>C	ENST00000331968.5	-	14	2244	c.2015C>G	c.(2014-2016)tCa>tGa	p.S672*	PRKD1_ENST00000415220.2_Nonsense_Mutation_p.S680*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	672	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTTTTCACTTGACAAGATCAT	0.363																																																	0													116	115	115					14																	30068914		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2015C>G	14.37:g.30068914G>C	ENSP00000333568:p.Ser672*		A6NL64|B2RAF6	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.S672*	ENST00000331968.5	37	c.2015	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.297355	0.98747	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.9172	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	672;680	.	ENSP00000333568:S672X	S	-	2	0	PRKD1	29138665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.824000	0.97209	0.655000	0.94253	TCA	PRKD1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184304		0.363	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0	48	0	G	NM_002742		30068914	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	nonsense	25.81	23	8	SNP	1.000	C	C	30068914	G	C	30068914	4	2	26	1	0	0	0	0	0	1	0	0	12560	1294	45	5	743	5	PRKD1	14	30068914	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5359639	30068914	77280626	234	6786											
AKAP6	9472	genome.wustl.edu	37	chr14	33292102	33292102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagaacttagcagcagtGacgagctctctctttgctca	11	11	8	11	1	3	2	1	1	2	1	4	3	3	2	0	0	6	4	0	0	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:33292102G>T	ENST00000280979.4	+	13	5253	c.5083G>T	c.(5083-5085)Gac>Tac	p.D1695Y	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1695	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.D1695N(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TAGCAGCAGTGACGAGCTCTC	0.463																																					Melanoma(49;821 1200 7288 13647 42351)												1	Substitution - Missense(1)	lung(1)											98	92	94					14																	33292102		2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5083G>T	14.37:g.33292102G>T	ENSP00000280979:p.Asp1695Tyr		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.D1695Y	ENST00000280979.4	37	c.5083	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504487	0.64410	.	.	ENSG00000151320	ENST00000280979	T	0.08370	3.1	5.98	5.98	0.97165	.	0.104295	0.64402	D	0.000004	T	0.29716	0.0742	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00125	-1.2022	10	0.87932	D	0	-21.1608	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1695	Q13023	AKAP6_HUMAN	Y	1695	ENSP00000280979:D1695Y	ENSP00000280979:D1695Y	D	+	1	0	AKAP6	32361853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.922000	0.92789	2.843000	0.97960	0.650000	0.86243	GAC	AKAP6	-	NULL	ENSG00000151320		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2		0	32	0	G	NM_004274		33292102	1			no_errors	ENST00000280979	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	33292102	G	T	33292102	3	4	26	1	0	0	0	0	1	0	0	0	455	1290	45	3	5129	3	AKAP6	14	33292102	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3223188	33292102	74057438	235	6787											
KLHL28	54813	genome.wustl.edu	37	chr14	45403680	45403680	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatactttttggtctaaaacGcatattccaaattcatagcg	13	15	5	8	2	2	0	1	0	1	0	3	0	3	0	1	1	3	1	1	1	7	9			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:45403680G>T	ENST00000396128.4	-	3	1100	c.981C>A	c.(979-981)tgC>tgA	p.C327*	KLHL28_ENST00000355081.2_Nonsense_Mutation_p.C341*	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	327										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGTCTAAAACGCATATTCCAA	0.388																																																	0													74	69	71					14																	45403680		2203	4300	6503	SO:0001587	stop_gained	0			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.981C>A	14.37:g.45403680G>T	ENSP00000379434:p.Cys327*		Q0VAL5	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C327*	ENST00000396128.4	37	c.981	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.383336	0.95967	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	.	.	.	5.38	-1.31	0.09230	.	0.092525	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	12.7631	0.57376	0.3915:0.0:0.6085:0.0	.	.	.	.	X	327;341	.	ENSP00000347193:C341X	C	-	3	2	KLHL28	44473430	0.002000	0.14202	0.997000	0.53966	0.998000	0.95712	-1.031000	0.03578	-0.152000	0.11156	0.557000	0.71058	TGC	KLHL28	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000179454		0.388	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	-	0	46	0	G			45403680	-1	tier1	-	no_errors	ENST00000396128	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	0.980	T	T	45403680	G	T	45403680	4	4	26	1	0	0	0	0	0	1	0	0	8409	1079	38	2	746	2	KLHL28	14	45403680	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	12111578	45403680	61945860	236	6788											
SOS2	6655	genome.wustl.edu	37	chr14	50649280	50649280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacctaaaagtttcacagtCaattcatgtatatctgaaat	17	13	4	7	0	4	1	3	1	1	0	4	1	4	1	1	0	1	2	1	0	7	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:50649280C>T	ENST00000216373.5	-	6	1033	c.759G>A	c.(757-759)ttG>ttA	p.L253L	SOS2_ENST00000543680.1_Silent_p.L253L|SOS2_ENST00000555794.1_5'Flank	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	253	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GTTTCACAGTCAATTCATGTA	0.343																																																	0													72	70	71					14																	50649280		2203	4300	6503	SO:0001819	synonymous_variant	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11188	protein-coding gene	gene with protein product		601247	"son of sevenless (Drosophilia) homolog 2"			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.759G>A	14.37:g.50649280C>T			B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L253	ENST00000216373.5	37	c.759	CCDS9697.1	14																																																																																			SOS2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000100485		0.343	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2		0	12	0	C			50649280	-1			no_errors	ENST00000216373	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	T	T	50649280	C	T	50649280	2	4	26	1	0	0	0	0	0	0	0	1	14982	825	29	3		3	SOS2	14	50649280	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	5245600	50649280	56700260	237	6789											
GCH1	2643	genome.wustl.edu	37	chr14	55310767	55310767	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtcaggaactcttcccGagtctttggatcctcccgga	8	10	11	12	2	3	1	1	0	2	1	6	6	6	4	3	3	1	0	3	3	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:55310767G>T	ENST00000491895.2	-	6	909	c.721C>A	c.(721-723)Cgg>Agg	p.R241R	GCH1_ENST00000543643.2_Intron|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000395514.1_Silent_p.R241R	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	241			R -> W (in DYT5). {ECO:0000269|PubMed:9778264}.		7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						AACTCTTCCCGAGTCTTTGGA	0.488																																					Pancreas(198;1245 2204 4807 21567 38372)												0			GRCh37	CM011360	GCH1	M							185	146	159					14																	55310767		2203	4300	6503	SO:0001819	synonymous_variant	0			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"dopa-responsive dystonia"	600225	"dystonia 14"	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.721C>A	14.37:g.55310767G>T			Q6FHY7|Q9Y4I8	Silent	SNP	pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I	p.R241	ENST00000491895.2	37	c.721	CCDS9720.1	14																																																																																			GCH1	-	tigrfam_GTP_CycHdrlase_I	ENSG00000131979		0.488	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3	-	0	38	0	G			55310767	-1	tier1	-	no_errors	ENST00000395514	ensembl	human	known	74_37	silent	9.09	60	6	SNP	0.999	T	T	55310767	G	T	55310767	2	4	26	1	0	0	0	0	0	0	0	1	6316	1057	37	2		2	GCH1	14	55310767	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4661487	55310767	52038773	238	6790											
SLC38A6	145389	genome.wustl.edu	37	chr14	61519096	61519096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcatctttggaattttGgttgggaattttagtttagc	7	20	10	4	0	2	0	1	0	1	0	2	2	2	2	0	3	2	3	0	3	4	9			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:61519096G>T	ENST00000267488.4	+	16	1436	c.1320G>T	c.(1318-1320)ttG>ttT	p.L440F	SLC38A6_ENST00000456840.2_Intron|SLC38A6_ENST00000354886.2_Intron	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	440					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.L440F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTGGAATTTTGGTTGGGAATT	0.259																																																	1	Substitution - Missense(1)	lung(1)											87	83	84					14																	61519096		2197	4290	6487	SO:0001583	missense	0			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1320G>T	14.37:g.61519096G>T	ENSP00000267488:p.Leu440Phe		C9JWA6|Q86SY5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.L440F	ENST00000267488.4	37	c.1320	CCDS9751.1	14	.	.	.	.	.	.	.	.	.	.	G	13.50	2.257051	0.39896	.	.	ENSG00000139974	ENST00000267488;ENST00000529212	T;T	0.02974	4.09;4.09	5.17	3.2	0.36748	.	.	.	.	.	T	0.04003	0.0112	L	0.33339	1.005	0.80722	D	1	P	0.40211	0.707	P	0.46758	0.526	T	0.53201	-0.8472	9	0.49607	T	0.09	.	6.7388	0.23424	0.1659:0.0:0.653:0.1811	.	440	Q8IZM9	S38A6_HUMAN	F	440;213	ENSP00000267488:L440F;ENSP00000437190:L213F	ENSP00000267488:L440F	L	+	3	2	SLC38A6	60588849	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	1.080000	0.30779	1.398000	0.46701	0.650000	0.86243	TTG	SLC38A6	-	pfam_AA_transpt_TM	ENSG00000139974		0.259	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A6	HGNC	protein_coding	OTTHUMT00000276957.1		0	12	0	G			61519096	1			no_errors	ENST00000267488	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.986	T	T	61519096	G	T	61519096	3	4	26	1	0	0	0	0	1	0	0	0	14653	1339	47	3	1382	3	SLC38A6	14	61519096	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	6208329	61519096	45830444	239	6791											
SYNE2	23224	genome.wustl.edu	37	chr14	64612848	64612848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaataaaatacagatcttGaacaactggctggaagcaca	19	7	8	7	0	1	2	0	1	1	1	1	4	1	3	0	2	4	2	0	2	8	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:64612848G>C	ENST00000344113.4	+	84	15758	c.15546G>C	c.(15544-15546)ttG>ttC	p.L5182F	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1816F|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5182F|SYNE2_ENST00000357395.3_Missense_Mutation_p.L1567F|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5099F|SYNE2_ENST00000394768.2_Missense_Mutation_p.L1567F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5182					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TACAGATCTTGAACAACTGGC	0.358																																																	0													60	66	64					14																	64612848		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15546G>C	14.37:g.64612848G>C	ENSP00000341781:p.Leu5182Phe		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5182F	ENST00000344113.4	37	c.15546	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952213	0.53293	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;3.62;0.98	5.63	5.63	0.86233	.	0.000000	0.42964	D	0.000623	T	0.65460	0.2693	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.995;0.997	T	0.69379	-0.5161	10	0.72032	D	0.01	.	11.1489	0.48447	0.143:0.0:0.857:0.0	.	1567;5099;5182;5182	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	F	5182;1567;5182;5099;5105;1816;1567	ENSP00000350719:L5182F;ENSP00000349969:L1567F;ENSP00000341781:L5182F;ENSP00000452570:L5099F;ENSP00000450831:L1816F;ENSP00000378249:L1567F	ENSP00000261678:L5105F	L	+	3	2	SYNE2	63682601	0.999000	0.42202	1.000000	0.80357	0.476000	0.33039	1.375000	0.34295	2.646000	0.89796	0.655000	0.94253	TTG	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	35	0	G	NM_182914		64612848	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	C	C	64612848	G	C	64612848	3	2	26	1	0	0	0	0	1	0	0	0	15493	1281	45	5	15876	5	SYNE2	14	64612848	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3093752	64612848	42736692	240	6792											
MPP5	64398	genome.wustl.edu	37	chr14	67746085	67746085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcaacaacaggaggacatGaggcgtaggagagaggaaga	16	2	17	6	2	0	3	0	1	0	2	0	8	0	7	0	6	2	2	0	6	4	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:67746085G>C	ENST00000261681.4	+	3	859	c.198G>C	c.(196-198)atG>atC	p.M66I	MPP5_ENST00000555925.1_Missense_Mutation_p.M32I|MPP5_ENST00000556345.1_Missense_Mutation_p.M66I	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	66	Interaction with PARD6B. {ECO:0000250}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGGAGGACATGAGGCGTAGGA	0.483																																																	0													131	119	123					14																	67746085		2203	4300	6503	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.198G>C	14.37:g.67746085G>C	ENSP00000261681:p.Met66Ile		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.M66I	ENST00000261681.4	37	c.198	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852421	0.32699	.	.	ENSG00000072415	ENST00000261681;ENST00000556345;ENST00000555925;ENST00000557783	T;T	0.06849	3.26;3.25	5.53	5.53	0.82687	.	0.095791	0.64402	D	0.000001	T	0.06554	0.0168	N	0.19112	0.55	0.39748	D	0.971843	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37009	-0.9724	10	0.30854	T	0.27	.	13.1842	0.59672	0.0825:0.0:0.9175:0.0	.	66;66	Q8N3R9;G3V2B0	MPP5_HUMAN;.	I	66;66;32;32	ENSP00000261681:M66I;ENSP00000451488:M32I	ENSP00000261681:M66I	M	+	3	0	MPP5	66815838	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.478000	0.45189	2.596000	0.87737	0.462000	0.41574	ATG	MPP5	-	NULL	ENSG00000072415		0.483	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1		0	19	0	G	NM_022474		67746085	1			no_errors	ENST00000261681	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	C	C	67746085	G	C	67746085	3	2	26	1	0	0	0	0	1	0	0	0	9775	1290	45	5	200	5	MPP5	14	67746085	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3133237	67746085	39603455	241	6793											
ZFYVE1	53349	genome.wustl.edu	37	chr14	73460063	73460063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctggcacctctgagggatGatctatacaagcagaaacac	13	8	9	11	0	3	3	0	2	3	1	3	4	3	4	1	2	3	2	1	2	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:73460063G>A	ENST00000556143.1	-	4	1711	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.H331Y|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.H331Y	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	331					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCTGAGGGATGATCTATACAA	0.502																																																	0													60	57	58					14																	73460063		2203	4300	6503	SO:0001583	missense	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.991C>T	14.37:g.73460063G>A	ENSP00000450742:p.His331Tyr		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.H331Y	ENST00000556143.1	37	c.991	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198134	0.58126	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.63744	-0.06;-0.06;-0.06	5.47	5.47	0.80525	.	0.190512	0.48286	D	0.000186	T	0.42877	0.1222	N	0.08118	0	0.80722	D	1	B;B	0.26445	0.002;0.149	B;B	0.19666	0.001;0.026	T	0.44345	-0.9334	10	0.62326	D	0.03	-21.2265	14.2064	0.65737	0.0:0.0:0.8506:0.1494	.	331;331	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	Y	331	ENSP00000452442:H331Y;ENSP00000326921:H331Y;ENSP00000450742:H331Y	ENSP00000326921:H331Y	H	-	1	0	ZFYVE1	72529816	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.519000	0.67074	2.588000	0.87417	0.555000	0.69702	CAT	ZFYVE1	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000165861		0.502	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	-	0	25	0	G	NM_021260		73460063	-1	tier1	-	no_errors	ENST00000553891	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	A	A	73460063	G	A	73460063	3	1	26	1	0	0	0	0	1	0	0	0	17711	1290	45	3	1378	3	ZFYVE1	14	73460063	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	5713978	73460063	33889477	242	6794											
C14orf148	122945	genome.wustl.edu	37	chr14	77872265	77872265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcccttacctttcctgaGacaaattcttgccataggct	10	13	6	12	0	1	1	0	1	1	1	2	2	2	1	4	1	3	1	4	1	4	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:77872265G>A	ENST00000380835.2	-	5	1062	c.896C>T	c.(895-897)tCt>tTt	p.S299F		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	299					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						CCTTTCCTGAGACAAATTCTT	0.408																																																	0													82	75	77					14																	77872265		1568	3582	5150	SO:0001583	missense	0			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.896C>T	14.37:g.77872265G>A	ENSP00000370215:p.Ser299Phe		B3KQ47|O95435	Missense_Mutation	SNP	NULL	p.S299F	ENST00000380835.2	37	c.896	CCDS45142.1	14	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139017	0.37728	.	.	ENSG00000165555	ENST00000380835	T	0.56444	0.46	5.66	1.03	0.20045	.	1.061700	0.07305	N	0.874768	T	0.40719	0.1128	L	0.43152	1.355	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.35475	-0.9787	10	0.46703	T	0.11	0.041	2.7178	0.05192	0.1035:0.1465:0.4516:0.2983	.	299	Q6NXP6	NXRD1_HUMAN	F	299	ENSP00000370215:S299F	ENSP00000370215:S299F	S	-	2	0	C14orf148	76942018	0.000000	0.05858	0.010000	0.14722	0.551000	0.35334	0.326000	0.19646	0.570000	0.29347	0.460000	0.39030	TCT	NOXRED1	-	NULL	ENSG00000165555		0.408	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	-	0	28	0	G	NM_138791		77872265	-1	tier1	-	no_errors	ENST00000380835	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.000	A	A	77872265	G	A	77872265	3	1	26	1	0	0	0	0	1	0	0	0	1756	942	33	3	191	3	C14orf148	14	77872265	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4412202	77872265	29477275	243	6795											
PPP4R4	57718	genome.wustl.edu	37	chr14	94722887	94722887	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagttagaaatgtgtgtGaggaaactcctgtgtcaaga	13	10	12	6	0	1	3	1	1	0	2	2	4	2	4	1	1	2	2	1	1	4	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:94722887G>C	ENST00000304338.3	+	17	2110	c.1956G>C	c.(1954-1956)gtG>gtC	p.V652V		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	652					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AAATGTGTGTGAGGAAACTCC	0.363																																																	0													111	114	113					14																	94722887		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1956G>C	14.37:g.94722887G>C			Q9BUF8|Q9HCF0	Silent	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V652	ENST00000304338.3	37	c.1956	CCDS9921.1	14																																																																																			PPP4R4	-	superfamily_ARM-type_fold	ENSG00000119698		0.363	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	-	0	31	0	G	NM_058237		94722887	1	tier1	-	no_errors	ENST00000304338	ensembl	human	known	74_37	silent	24.32	28	9	SNP	0.997	C	C	94722887	G	C	94722887	2	2	26	1	0	0	0	0	0	0	0	1	12447	1277	45	5		5	PPP4R4	14	94722887	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	16850622	94722887	12626653	244	6796											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102449796	102449796	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtattgttgagagacatCgtcaaaagaaaaagggaaga	18	7	12	4	1	1	4	1	1	0	3	2	6	1	5	0	2	0	2	0	2	6	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:102449796C>A	ENST00000360184.4	+	7	1475	c.1311C>A	c.(1309-1311)atC>atA	p.I437I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	437	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGAGAGACATCGTCAAAAGAA	0.418																																																	0													88	90	89					14																	102449796		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1311C>A	14.37:g.102449796C>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.I437	ENST00000360184.4	37	c.1311	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-1	ENSG00000197102		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0	29	0	C	NM_001376		102449796	1			no_errors	ENST00000360184	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.679	A	A	102449796	C	A	102449796	2	1	26	1	0	0	0	0	0	0	0	1	4855	874	31	2		2	DYNC1H1	14	102449796	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	7726909	102449796	4899744	245	6797											
C14orf73	91828	genome.wustl.edu	37	chr14	103569048	103569048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctccaggagctcgcgcgcGacgcccgcggctgcgagcag	5	3	16	17	8	0	0	0	0	0	0	2	3	1	1	3	2	3	3	3	2	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:103569048G>A	ENST00000380069.3	+	2	1064	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	330					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTCGCGCGCGACGCCCGCGG	0.716																																																	0													4	5	5					14																	103569048		1989	3915	5904	SO:0001583	missense	0			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.988G>A	14.37:g.103569048G>A	ENSP00000369409:p.Asp330Asn		Q14CR2	Missense_Mutation	SNP	pfam_Sec6	p.D330N	ENST00000380069.3	37	c.988	CCDS32163.1	14	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390681	0.25118	.	.	ENSG00000205436	ENST00000380069	T	0.06371	3.31	4.09	2.19	0.27852	.	0.820074	0.10809	N	0.631830	T	0.06096	0.0158	L	0.36672	1.1	0.09310	N	1	B	0.18863	0.031	B	0.17722	0.019	T	0.37619	-0.9698	10	0.46703	T	0.11	-10.7961	6.8603	0.24064	0.1024:0.1792:0.7185:0.0	.	330	Q17RC7	EX3L4_HUMAN	N	330	ENSP00000369409:D330N	ENSP00000369409:D330N	D	+	1	0	EXOC3L4	102638801	0.000000	0.05858	0.159000	0.22649	0.261000	0.26267	0.057000	0.14279	0.361000	0.24292	0.491000	0.48974	GAC	EXOC3L4	-	pfam_Sec6	ENSG00000205436		0.716	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1		0	10	0	G	XM_941093		103569048	1			no_errors	ENST00000380069	ensembl	human	known	74_37	missense	50.00	2	2	SNP	0.126	A	A	103569048	G	A	103569048	3	1	26	1	0	0	0	0	1	0	0	0	1784	1058	37	1	994	1	C14orf73	14	103569048	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1119252	103569048	3780492	246	6798											
C14orf180	400258	genome.wustl.edu	37	chr14	105052817	105052817	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgactcccggccagagacacGacgtcagaccagaaagaatg	14	4	11	12	3	1	5	1	1	0	4	2	7	2	5	3	1	0	0	3	1	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr14:105052817G>C	ENST00000557649.1	+	2	386	c.50G>C	c.(49-51)cGa>cCa	p.R17P	C14orf180_ENST00000410013.1_Missense_Mutation_p.R17P|C14orf180_ENST00000331952.2_Missense_Mutation_p.R17P|RP11-614O9.1_ENST00000556073.1_RNA			Q8N912	NRAC_HUMAN	chromosome 14 open reading frame 180	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		CCAGAGACACGACGTCAGACC	0.582																																																	0													18	18	18					14																	105052817		2143	4214	6357	SO:0001583	missense	0				CCDS32166.1, CCDS66722.1	14q32.33	2012-11-12	2012-11-12	2012-11-12	ENSG00000184601	ENSG00000184601			33795	protein-coding gene	gene with protein product	"nutritionally-regulated adipose and cardiac-enriched"		"chromosome 14 open reading frame 77"	C14orf77		23029450	Standard	XM_005267638		Approved	NRAC	uc001yow.1	Q8N912	OTTHUMG00000029806	ENST00000557649.1:c.50G>C	14.37:g.105052817G>C	ENSP00000452502:p.Arg17Pro			Missense_Mutation	SNP	NULL	p.R17P	ENST00000557649.1	37	c.50	CCDS32166.1	14	.	.	.	.	.	.	.	.	.	.	G	2.000	-0.429564	0.04701	.	.	ENSG00000184601	ENST00000557649;ENST00000331952;ENST00000553873;ENST00000410013	.	.	.	2.33	-4.66	0.03329	.	.	.	.	.	T	0.15219	0.0367	N	0.12746	0.255	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.06427	-1.0827	8	0.35671	T	0.21	4.4505	2.2886	0.04133	0.2061:0.1272:0.4664:0.2003	.	17;17;17	B4DN93;G3V2Z8;Q8N912	.;.;CN180_HUMAN	P	17	.	ENSP00000333041:R17P	R	+	2	0	C14orf180	104123862	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.235000	0.01202	-3.567000	0.00140	-0.539000	0.04255	CGA	C14orf180	-	NULL	ENSG00000184601		0.582	C14orf180-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf180	HGNC	protein_coding	OTTHUMT00000410580.1	-	0	127	0	G	NM_001008404		105052817	1	tier1	-	no_errors	ENST00000410013	ensembl	human	known	74_37	missense	9.09	120	12	SNP	0.000	C	C	105052817	G	C	105052817	3	2	26	1	0	0	0	0	1	0	0	0	1768	1058	37	5	52	5	C14orf180	14	105052817	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1483769	105052817	2296723	247	6799											
RPAP1	26015	genome.wustl.edu	37	chr15	41816047	41816047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccacggctctccacatCtcaggtctggacagcaactt	8	8	10	15	1	3	0	1	0	3	0	5	1	3	1	2	4	2	2	2	4	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr15:41816047C>T	ENST00000304330.4	-	17	2474	c.2358G>A	c.(2356-2358)gaG>gaA	p.E786E	RPAP1_ENST00000561603.1_Silent_p.E786E	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	786						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTCTCCACATCTCAGGTCTGG	0.612																																																	0													38	36	37					15																	41816047		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.2358G>A	15.37:g.41816047C>T			Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.E786	ENST00000304330.4	37	c.2358	CCDS10079.1	15																																																																																			RPAP1	-	NULL	ENSG00000103932		0.612	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	-	0	35	0	C	NM_015540		41816047	-1	tier1	-	no_errors	ENST00000304330	ensembl	human	known	74_37	silent	36.67	38	22	SNP	0.003	T	T	41816047	C	T	41816047	2	4	26	1	0	0	0	0	0	0	0	1	13586	912	32	3		3	RPAP1	15	41816047	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09		41816047	60715345	248	6800											
MAP1A	4130	genome.wustl.edu	37	chr15	43817462	43817462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccatgcagccacagcgtCacctcccacagatgggacaa	11	4	9	17	1	1	1	1	0	0	1	2	2	2	2	5	1	3	1	5	1	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr15:43817462C>T	ENST00000300231.5	+	4	4241	c.3791C>T	c.(3790-3792)tCa>tTa	p.S1264L	MAP1A_ENST00000382031.1_Missense_Mutation_p.S1502L|MAP1A_ENST00000399453.1_Missense_Mutation_p.S1264L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1264					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCACAGCGTCACCTCCCACA	0.542																																																	0													81	94	90					15																	43817462		2157	4257	6414	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3791C>T	15.37:g.43817462C>T	ENSP00000300231:p.Ser1264Leu		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.S1264L	ENST00000300231.5	37	c.3791	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238489	0.01493	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01527	4.8;4.81;4.81	4.98	0.957	0.19613	.	.	.	.	.	T	0.02083	0.0065	L	0.41710	1.295	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.41197	-0.9522	9	0.56958	D	0.05	-4.8459	8.2678	0.31824	0.0:0.6661:0.0:0.3339	.	1264	P78559	MAP1A_HUMAN	L	1502;1264;1264	ENSP00000371462:S1502L;ENSP00000382380:S1264L;ENSP00000300231:S1264L	ENSP00000300231:S1264L	S	+	2	0	MAP1A	41604754	0.000000	0.05858	0.005000	0.12908	0.027000	0.11550	-0.086000	0.11233	0.315000	0.23110	0.563000	0.77884	TCA	MAP1A	-	NULL	ENSG00000166963		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	-	0	14	0	C	NM_002373		43817462	1	tier1	-	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.001	T	T	43817462	C	T	43817462	3	4	26	1	0	0	0	0	1	0	0	0	9265	838	29	3	3793	3	MAP1A	15	43817462	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2001415	43817462	58713930	249	6801											
VPS13C	54832	genome.wustl.edu	37	chr15	62209602	62209602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgagagaaggataaagatGaataatgtaagctacatccc	18	8	10	5	0	0	4	0	2	0	2	1	6	1	5	1	1	2	2	1	1	7	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr15:62209602G>A	ENST00000261517.5	-	60	8066	c.7993C>T	c.(7993-7995)Cat>Tat	p.H2665Y	VPS13C_ENST00000249837.3_Missense_Mutation_p.H2622Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.H2665Y|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395898.3_Missense_Mutation_p.H2622Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGATAAAGATGAATAATGTAA	0.383																																																	0													126	115	118					15																	62209602		2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7993C>T	15.37:g.62209602G>A	ENSP00000261517:p.His2665Tyr			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.H2665Y	ENST00000261517.5	37	c.7993	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338631	0.81911	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.50001	0.76;0.76;0.94	5.76	4.84	0.62591	.	0.045746	0.85682	N	0.000000	T	0.71651	0.3365	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;1.0;1.0;1.0;0.999	T	0.77496	-0.2566	10	0.87932	D	0	.	14.6633	0.68888	0.0699:0.0:0.9301:0.0	.	2665;2622;2665;2622;2665	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	Y	2622;2665;2665;2665	ENSP00000249837:H2622Y;ENSP00000261517:H2665Y;ENSP00000379233:H2665Y	ENSP00000249837:H2622Y	H	-	1	0	VPS13C	59996894	1.000000	0.71417	0.796000	0.32109	0.953000	0.61014	7.420000	0.80191	1.430000	0.47334	0.650000	0.86243	CAT	VPS13C	-	NULL	ENSG00000129003		0.383	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	29	0	G	NM_017684		62209602	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	A	A	62209602	G	A	62209602	3	1	26	1	0	0	0	0	1	0	0	0	17240	1290	45	3	3400	3	VPS13C	15	62209602	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	18392140	62209602	40321790	250	6802											
RASGRF1	5923	genome.wustl.edu	37	chr15	79298644	79298644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttgaggaagtcgatgctCaggaagcgcaggtccgtcag	9	8	16	8	3	2	1	2	1	0	0	4	4	3	3	1	3	2	3	1	3	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr15:79298644C>T	ENST00000419573.3	-	15	2272	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	RASGRF1_ENST00000394745.3_5'Flank|RASGRF1_ENST00000558480.2_Silent_p.L653L|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	666	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTCGATGCTCAGGAAGCGCA	0.557																																																	0													155	124	134					15																	79298644		2196	4293	6489	SO:0001819	synonymous_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1998G>A	15.37:g.79298644C>T			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L666	ENST00000419573.3	37	c.1998	CCDS10309.1	15																																																																																			RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.557	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3		0	38	0	C	NM_002891		79298644	-1			no_errors	ENST00000419573	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T	T	79298644	C	T	79298644	2	4	26	1	0	0	0	0	0	0	0	1	13117	813	29	3		3	RASGRF1	15	79298644	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	17089042	79298644	23232748	251	6803											
ISG20	3669	genome.wustl.edu	37	chr15	89182739	89182739	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcatccggcctgagggaGagatcaccgattacagaacc	12	7	11	11	2	2	3	2	1	0	2	3	6	3	4	4	2	2	1	4	2	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr15:89182739G>C	ENST00000306072.5	+	2	500	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	ISG20_ENST00000379224.5_Missense_Mutation_p.E48Q|ISG20_ENST00000560741.1_Missense_Mutation_p.E48Q	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	48					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA catabolic process, exonucleolytic (GO:0000738)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	3'-5'-exoribonuclease activity (GO:0000175)|exonuclease activity (GO:0004527)|exoribonuclease II activity (GO:0008859)|metal ion binding (GO:0046872)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|U1 snRNA binding (GO:0030619)|U2 snRNA binding (GO:0030620)|U3 snoRNA binding (GO:0034511)			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			GCCTGAGGGAGAGATCACCGA	0.652																																																	0													68	68	68					15																	89182739		2200	4299	6499	SO:0001583	missense	0			X89773	CCDS10345.1	15q26	2006-02-22	2002-08-29		ENSG00000172183	ENSG00000172183			6130	protein-coding gene	gene with protein product		604533	"interferon stimulated gene (20kD)"			9235947, 9605874	Standard	NM_002201		Approved	HEM45, CD25	uc002bmv.1	Q96AZ6	OTTHUMG00000148679	ENST00000306072.5:c.142G>C	15.37:g.89182739G>C	ENSP00000306565:p.Glu48Gln		O00441|O00586	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.E48Q	ENST00000306072.5	37	c.142	CCDS10345.1	15	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210298	0.39003	.	.	ENSG00000172183	ENST00000306072;ENST00000379224	T;T	0.22743	1.94;1.94	4.81	0.716	0.18191	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	1.416180	0.04277	N	0.343092	T	0.19046	0.0457	L	0.45744	1.44	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.26643	-1.0097	10	0.34782	T	0.22	-0.1539	4.6482	0.12582	0.2531:0.3173:0.4296:0.0	.	48	Q96AZ6	ISG20_HUMAN	Q	48	ENSP00000306565:E48Q;ENSP00000368526:E48Q	ENSP00000306565:E48Q	E	+	1	0	ISG20	86983743	0.000000	0.05858	0.005000	0.12908	0.945000	0.59286	0.237000	0.17985	0.435000	0.26365	0.561000	0.74099	GAG	ISG20	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000172183		0.652	ISG20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20	HGNC	protein_coding	OTTHUMT00000309069.2	-	0	53	0	G	NM_002201		89182739	1	tier1	-	no_errors	ENST00000306072	ensembl	human	known	74_37	missense	18.75	65	15	SNP	0.000	C	C	89182739	G	C	89182739	3	2	26	1	0	0	0	0	1	0	0	0	7881	943	33	5	144	5	ISG20	15	89182739	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	9884095	89182739	13348653	252	6804											
MSLN	10232	genome.wustl.edu	37	chr16	812752	812752	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggcagcctcctgttcctGctcttcagcctcggtgcgta	3	12	10	16	3	2	0	1	0	1	0	6	0	4	0	4	2	4	4	4	2	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:812752G>T	ENST00000382862.3	+	2	167	c.72G>T	c.(70-72)ctG>ctT	p.L24L	MSLN_ENST00000545450.2_Silent_p.L24L|MSLN_ENST00000566549.1_Silent_p.L24L|MSLN_ENST00000563941.1_Silent_p.L24L	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	24					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCCTGTTCCTGCTCTTCAGCC	0.682																																																	0													75	78	77					16																	812752		2200	4300	6500	SO:0001819	synonymous_variant	0			U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.72G>T	16.37:g.812752G>T			D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	pfam_Mesothelin	p.L24	ENST00000382862.3	37	c.72	CCDS32356.1	16																																																																																			MSLN	-	pfam_Mesothelin	ENSG00000102854		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MSLN	HGNC	protein_coding	OTTHUMT00000109253.2	-	0	108	0	G			812752	1	tier1	-	no_errors	ENST00000382862	ensembl	human	known	74_37	silent	43.85	73	57	SNP	0.436	T	T	812752	G	T	812752	2	4	26	1	0	0	0	0	0	0	0	1	9919	1306	46	3		3	MSLN	16	812752	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		812752	89542001	253	6805											
UNKL	64718	genome.wustl.edu	37	chr16	1463960	1463960	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgcggcgccgctggttGaggaagtgccagtggaagca	7	6	18	10	3	0	1	0	1	0	0	0	3	0	3	3	5	3	3	3	5	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:1463960G>C	ENST00000389221.4	-	2	173	c.174C>G	c.(172-174)ctC>ctG	p.L58L	UNKL_ENST00000397462.1_Silent_p.L58L|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Silent_p.L58L|UNKL_ENST00000301712.5_Silent_p.L58L|LA16c-312E8.2_ENST00000568554.1_RNA	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	58					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCCGCTGGTTGAGGAAGTGCC	0.642											OREG0023546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17	16	16					16																	1463960		2108	4150	6258	SO:0001819	synonymous_variant	0			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.174C>G	16.37:g.1463960G>C		596	B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Nonsense_Mutation	SNP	NULL	p.S43*	ENST00000389221.4	37	c.128	CCDS53981.1	16																																																																																			UNKL	-	NULL	ENSG00000059145		0.642	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding		-	0	39	0	G	NM_001037125		1463960	-1	tier1	-	no_errors	ENST00000382757	ensembl	human	known	74_37	nonsense	41.82	32	23	SNP	0.998	C	C	1463960	G	C	1463960	2	2	26	1	0	0	0	0	0	0	0	1	17050	1277	45	5		5	UNKL	16	1463960	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	651208	1463960	88890793	254	6806											
NTN3	4917	genome.wustl.edu	37	chr16	2522730	2522730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacggccatgcccgccgCtgccgcttcaacatggagct	7	7	11	16	4	1	0	1	0	0	0	1	1	1	1	4	2	6	4	4	2	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:2522730C>T	ENST00000293973.1	+	2	1160	c.957C>T	c.(955-957)cgC>cgT	p.R319R	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	319	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						ATGCCCGCCGCTGCCGCTTCA	0.682																																																	0													44	52	50					16																	2522730		2151	4230	6381	SO:0001819	synonymous_variant	0			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.957C>T	16.37:g.2522730C>T				Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.R319	ENST00000293973.1	37	c.957	CCDS10469.1	16																																																																																			NTN3	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000162068		0.682	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN3	HGNC	protein_coding	OTTHUMT00000250812.1		0	14	0	C	NM_006181		2522730	1			no_errors	ENST00000293973	ensembl	human	known	74_37	silent	17.65	14	3	SNP	1.000	T	T	2522730	C	T	2522730	2	4	26	1	0	0	0	0	0	0	0	1	10740	784	28	3		3	NTN3	16	2522730	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1058770	2522730	87832023	255	6807											
KIAA0430	9665	genome.wustl.edu	37	chr16	15715632	15715632	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcagccccggtggcaagtGagaccaggatctttttgctg	7	10	14	10	1	1	1	0	1	1	1	1	3	1	2	3	4	2	3	3	4	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:15715632G>C	ENST00000396368.3	-	12	2803	c.2597C>G	c.(2596-2598)tCa>tGa	p.S866*	KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.S866*|KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.S701*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.S863*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.S535*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.S863*	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	866	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGTGGCAAGTGAGACCAGGAT	0.428																																																	0													109	102	104					16																	15715632		1874	4119	5993	SO:0001587	stop_gained	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2597C>G	16.37:g.15715632G>C	ENSP00000379654:p.Ser866*		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Nonsense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.S866*	ENST00000396368.3	37	c.2597	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	41	9.035063	0.99044	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8965	0.96963	0.0:0.0:1.0:0.0	.	.	.	.	X	866;701;865;535;863;866;713	.	ENSP00000315718:S865X	S	-	2	0	KIAA0430	15623133	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.017000	0.76399	2.717000	0.92951	0.655000	0.94253	TCA	KIAA0430	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000166783		0.428	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	-	0	78	0	G	NM_014647		15715632	-1	tier1	-	no_errors	ENST00000396368	ensembl	human	known	74_37	nonsense	18.58	91	21	SNP	1.000	C	C	15715632	G	C	15715632	4	2	26	1	0	0	0	0	0	1	0	0	8204	1294	45	5	2695	5	KIAA0430	16	15715632	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	13192902	15715632	74639121	256	6808											
GTF3C1	2975	genome.wustl.edu	37	chr16	27475803	27475803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctgggcttctgcccCatcttcagctccgggcccaa	4	9	12	16	1	3	0	1	0	2	0	4	0	4	0	5	4	2	2	5	4	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:27475803C>T	ENST00000356183.4	-	34	5725	c.5710G>A	c.(5710-5712)Ggg>Agg	p.G1904R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.G1904R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1904					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTTCTGCCCCATCTTCAGCT	0.647																																																	0													66	76	73					16																	27475803		2197	4300	6497	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5710G>A	16.37:g.27475803C>T	ENSP00000348510:p.Gly1904Arg		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.G1904R	ENST00000356183.4	37	c.5710	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964429	0.18583	.	.	ENSG00000077235	ENST00000356183	T	0.22743	1.94	4.5	-4.56	0.03431	.	1.164370	0.06109	N	0.666806	T	0.13072	0.0317	L	0.44542	1.39	0.09310	N	1	B;B	0.30439	0.116;0.279	B;B	0.28139	0.025;0.086	T	0.26677	-1.0096	10	0.25751	T	0.34	-9.7722	1.7802	0.03030	0.124:0.3648:0.1291:0.382	.	1904;1904	Q12789;Q12789-3	TF3C1_HUMAN;.	R	1904	ENSP00000348510:G1904R	ENSP00000348510:G1904R	G	-	1	0	GTF3C1	27383304	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.168000	0.16622	-0.883000	0.03982	-0.475000	0.04921	GGG	GTF3C1	-	NULL	ENSG00000077235		0.647	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	-	0	76	0	C	NM_001520		27475803	-1	tier1	-	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	20.00	88	22	SNP	0.000	T	T	27475803	C	T	27475803	3	4	26	1	0	0	0	0	1	0	0	0	6899	594	21	3	635	3	GTF3C1	16	27475803	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	11760171	27475803	62878950	257	6809											
SH2B1	25970	genome.wustl.edu	37	chr16	28877776	28877776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgggcccctggctgtgctgGgcccttctcgatcatctgag	3	11	14	13	1	3	1	1	1	2	0	4	2	3	1	3	3	1	2	3	3	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:28877776G>T	ENST00000322610.8	+	4	800	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	SH2B1_ENST00000359285.5_Missense_Mutation_p.G121C|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.G121C|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.G121C			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	121	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.G121C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGCTGTGCTGGGCCCTTCTCG	0.632																																																	2	Substitution - Missense(2)	lung(2)											43	41	42					16																	28877776		2197	4300	6497	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.361G>T	16.37:g.28877776G>T	ENSP00000321221:p.Gly121Cys		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.G121C	ENST00000322610.8	37	c.361	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	g	17.72	3.459297	0.63401	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.50548	0.74;0.75;0.76;0.76	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000003	T	0.56156	0.1966	N	0.24115	0.695	0.36958	D	0.893201	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.957;0.998;0.956	T	0.66532	-0.5900	10	0.66056	D	0.02	-31.6327	16.6033	0.84821	0.0:0.0:1.0:0.0	.	121;121;121	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	C	121	ENSP00000321221:G121C;ENSP00000352232:G121C;ENSP00000378903:G121C;ENSP00000337163:G121C	ENSP00000321221:G121C	G	+	1	0	SH2B1	28785277	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.159000	0.71856	2.208000	0.71279	0.436000	0.28706	GGC	SH2B1	-	NULL	ENSG00000178188		0.632	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1		0	12	0	G	NM_015503		28877776	1			no_errors	ENST00000322610	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	28877776	G	T	28877776	3	4	26	1	0	0	0	0	1	0	0	0	14272	1232	43	3	363	3	SH2B1	16	28877776	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1401973	28877776	61476977	258	6810											
MYLK3	91807	genome.wustl.edu	37	chr16	46761262	46761262	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtacttctcatctgtgatCcggtcgaagagctcaccccc	7	11	9	14	2	3	2	2	1	2	1	6	3	4	2	3	2	2	2	3	2	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:46761262C>A	ENST00000394809.4	-	8	1915	c.1800G>T	c.(1798-1800)cgG>cgT	p.R600R	MYLK3_ENST00000536476.1_Silent_p.R259R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCTGTGATCCGGTCGAAGA	0.567																																																	0													160	104	123					16																	46761262		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1800G>T	16.37:g.46761262C>A			B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R600	ENST00000394809.4	37	c.1800	CCDS10723.2	16																																																																																			MYLK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140795		0.567	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	-	0	42	0	C	NM_182493		46761262	-1	tier1	-	no_errors	ENST00000394809	ensembl	human	known	74_37	silent	20.29	55	14	SNP	1.000	A	A	46761262	C	A	46761262	2	1	26	1	0	0	0	0	0	0	0	1	10096	842	30	3		3	MYLK3	16	46761262	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	17883486	46761262	43593491	259	6811											
LONP2	83752	genome.wustl.edu	37	chr16	48295447	48295447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagagaaaaaaatacgaaCatctagtatgccagagcagg	18	6	10	7	1	1	2	0	0	1	2	1	4	1	2	1	1	4	3	1	1	8	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:48295447C>A	ENST00000285737.4	+	5	929	c.836C>A	c.(835-837)aCa>aAa	p.T279K	LONP2_ENST00000535754.1_Missense_Mutation_p.T235K	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAAATACGAACATCTAGTATG	0.348																																																	0													125	124	124					16																	48295447		2200	4300	6500	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.836C>A	16.37:g.48295447C>A	ENSP00000285737:p.Thr279Lys			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.T279K	ENST00000285737.4	37	c.836	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	C	8.053	0.766495	0.15983	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.26660	1.72;1.72	5.88	4.93	0.64822	.	0.337453	0.34603	N	0.003828	T	0.09949	0.0244	N	0.01705	-0.755	0.24376	N	0.994814	B;B	0.18610	0.029;0.029	B;B	0.16722	0.016;0.016	T	0.19484	-1.0304	10	0.06625	T	0.88	-5.5299	15.2214	0.73313	0.0:0.9325:0.0:0.0675	.	235;279	B7ZKL7;Q86WA8	.;LONP2_HUMAN	K	279;8;235;235	ENSP00000285737:T279K;ENSP00000445426:T235K	ENSP00000285737:T279K	T	+	2	0	LONP2	46852948	0.995000	0.38212	0.905000	0.35620	0.816000	0.46133	2.814000	0.48010	1.495000	0.48549	0.591000	0.81541	ACA	LONP2	-	tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.348	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2		0	17	0	C	NM_031490		48295447	1			no_errors	ENST00000285737	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.453	A	A	48295447	C	A	48295447	3	1	26	1	0	0	0	0	1	0	0	0	8928	478	17	3	854	3	LONP2	16	48295447	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1534185	48295447	42059306	260	6812											
MT1H	4496	genome.wustl.edu	37	chr16	56704480	56704480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgcacctcctgcaagAagagtgagtgcggggccatc	11	6	13	11	1	0	3	0	1	0	2	2	3	1	3	3	2	3	3	3	2	3	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:56704480A>G	ENST00000332374.4	+	2	162	c.91A>G	c.(91-93)Aag>Gag	p.K31E	MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000568675.1_5'Flank|MT1H_ENST00000569155.1_Missense_Mutation_p.K31E|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000379811.3_5'Flank	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	31	Alpha.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						CTCCTGCAAGAAGAGTGAGTG	0.582																																																	0													56	55	55					16																	56704480		2198	4298	6496	SO:0001583	missense	0			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"Metallothioneins"	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.91A>G	16.37:g.56704480A>G	ENSP00000330587:p.Lys31Glu		B2RUY6	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.K31E	ENST00000332374.4	37	c.91	CCDS10767.1	16	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035964	0.35893	.	.	ENSG00000205358	ENST00000332374	T	0.24151	1.87	2.12	2.12	0.27331	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.000000	0.64402	U	0.000001	T	0.42291	0.1196	.	.	.	0.38598	D	0.950587	D	0.62365	0.991	D	0.66602	0.945	T	0.41342	-0.9514	9	0.59425	D	0.04	-1.4883	7.4215	0.27075	1.0:0.0:0.0:0.0	.	31	P80294	MT1H_HUMAN	E	31	ENSP00000330587:K31E	ENSP00000330587:K31E	K	+	1	0	MT1H	55261981	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	5.014000	0.64029	0.976000	0.38417	0.247000	0.18012	AAG	MT1H	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000205358		0.582	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1H	HGNC	protein_coding	OTTHUMT00000257063.1	-	0	94	0	A	NM_005951		56704480	1	tier1	-	no_errors	ENST00000332374	ensembl	human	known	74_37	missense	8.62	106	10	SNP	1.000	G	G	56704480	A	G	56704480	3	3	26	1	0	0	0	0	1	0	0	0	9940	247	9	4	97	4	MT1H	16	56704480	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	8409033	56704480	33650273	261	6813											
CNGB1	1258	genome.wustl.edu	37	chr16	58001173	58001173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggggctgaggcagcaccctCtggacccagcccaacatcct	8	5	12	16	0	1	1	0	1	1	0	2	2	2	2	4	4	3	3	4	4	1	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:58001173C>G	ENST00000251102.8	-	2	78	c.18G>C	c.(16-18)caG>caC	p.Q6H	CNGB1_ENST00000311183.4_Missense_Mutation_p.Q6H|CNGB1_ENST00000564448.1_Missense_Mutation_p.Q6H	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	6					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAGCACCCTCTGGACCCAGC	0.602																																					Colon(156;1293 1853 16336 28962 38659)												0													61	62	62					16																	58001173		1937	4139	6076	SO:0001583	missense	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.18G>C	16.37:g.58001173C>G	ENSP00000251102:p.Gln6His		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Q6H	ENST00000251102.8	37	c.18	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099774	0.56183	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.96830	-4.14;0.87	5.06	3.07	0.35406	.	0.000000	0.36778	N	0.002405	D	0.96137	0.8741	L	0.43923	1.385	0.24101	N	0.995871	D;D	0.71674	0.998;0.995	D;P	0.73380	0.98;0.908	D	0.90204	0.4259	10	0.87932	D	0	.	7.3697	0.26794	0.0:0.7922:0.0:0.2078	.	6;6	Q14028-3;Q14028	.;CNGB1_HUMAN	H	6	ENSP00000251102:Q6H;ENSP00000311670:Q6H	ENSP00000251102:Q6H	Q	-	3	2	CNGB1	56558674	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.642000	0.24735	0.620000	0.30215	0.448000	0.29417	CAG	CNGB1	-	NULL	ENSG00000070729		0.602	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	-	0	68	0	C	NM_001297		58001173	-1	tier1	-	no_errors	ENST00000251102	ensembl	human	known	74_37	missense	12.00	66	9	SNP	1.000	G	G	58001173	C	G	58001173	3	3	26	1	0	0	0	0	1	0	0	0	3607	912	32	5	3895	5	CNGB1	16	58001173	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1296693	58001173	32353580	262	6814											
EXOC3L	283849	genome.wustl.edu	37	chr16	67223572	67223572	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcatctcatccttggctgctGagtccattgtgggcctggag	5	12	13	11	0	1	1	1	1	1	0	4	2	3	2	3	3	1	3	3	3	0	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:67223572G>C	ENST00000314586.6	-	2	248	c.8C>G	c.(7-9)tCa>tGa	p.S3*	E2F4_ENST00000379378.3_5'Flank|EXOC3L1_ENST00000562887.1_5'UTR	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	3	Mediates interaction with EXOC2, EXOC4 and EXOC5. {ECO:0000250}.				exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTTGGCTGCTGAGTCCATTGT	0.602																																																	0													72	51	58					16																	67223572		2198	4300	6498	SO:0001587	stop_gained	0			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.8C>G	16.37:g.67223572G>C	ENSP00000325674:p.Ser3*		A8K7I9|Q8NAD2|Q8TEN2	Nonsense_Mutation	SNP	pfam_Sec6	p.S3*	ENST00000314586.6	37	c.8	CCDS10832.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.322734	0.95708	.	.	ENSG00000179044	ENST00000314586;ENST00000545725;ENST00000314553	.	.	.	3.61	3.61	0.41365	.	1.286100	0.05530	N	0.563858	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.077	11.0346	0.47793	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000325008:S3X	S	-	2	0	EXOC3L1	65781073	0.997000	0.39634	0.692000	0.30179	0.605000	0.37080	3.770000	0.55310	2.322000	0.78497	0.462000	0.41574	TCA	EXOC3L1	-	NULL	ENSG00000179044		0.602	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2		0	76	0	G	NM_178516		67223572	-1			no_errors	ENST00000314586	ensembl	human	known	74_37	nonsense	6.49	72	5	SNP	0.720	C	C	67223572	G	C	67223572	4	2	26	1	0	0	0	0	0	1	0	0	5320	1294	45	5	2284	5	EXOC3L	16	67223572	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	9222399	67223572	23131181	263	6815											
HSD11B2	3291	genome.wustl.edu	37	chr16	67470642	67470642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcctggccatgtccgacctCaccccagttgtagatgccat	7	9	9	16	2	1	1	1	0	0	1	2	2	2	1	7	1	1	2	7	1	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:67470642C>T	ENST00000326152.5	+	5	1086	c.954C>T	c.(952-954)ctC>ctT	p.L318L	ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	318					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		TGTCCGACCTCACCCCAGTTG	0.627																																																	0													103	91	95					16																	67470642		2198	4300	6498	SO:0001819	synonymous_variant	0			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5209	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 3"	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.954C>T	16.37:g.67470642C>T			A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.L318	ENST00000326152.5	37	c.954	CCDS10837.1	16																																																																																			HSD11B2	-	NULL	ENSG00000176387		0.627	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B2	HGNC	protein_coding	OTTHUMT00000268826.3	-	0	42	0	C	NM_000196		67470642	1	tier1	-	no_errors	ENST00000326152	ensembl	human	known	74_37	silent	12.12	58	8	SNP	0.997	T	T	67470642	C	T	67470642	2	4	26	1	0	0	0	0	0	0	0	1	7404	813	29	3		3	HSD11B2	16	67470642	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	247070	67470642	22884111	264	6816											
ACD	65057	genome.wustl.edu	37	chr16	67693165	67693165	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggactctgaaaggtgctCcctacaggaagagagtggcc	10	7	15	9	0	1	2	0	1	1	1	2	5	2	4	2	5	2	1	2	5	3	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:67693165C>A	ENST00000393919.4	-	6	982	c.718G>T	c.(718-720)Gag>Tag	p.E240*	PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank|ACD_ENST00000219251.8_Splice_Site_p.E237*			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	240					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAAAGGTGCTCCCTACAGGAA	0.547																																																	0													179	173	175					16																	67693165		2198	4300	6498	SO:0001630	splice_region_variant	0			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.717-1G>T	16.37:g.67693165C>A			Q562H5|Q9H8F9	Nonsense_Mutation	SNP	NULL	p.E240*	ENST00000393919.4	37	c.718	CCDS42181.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.946809	0.97134	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	.	.	.	4.99	2.61	0.31194	.	0.566483	0.17977	N	0.155661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-13.9607	5.3761	0.16166	0.0:0.7115:0.0:0.2885	.	.	.	.	X	237;240	.	ENSP00000219251:E237X	E	-	1	0	ACD	66250666	0.997000	0.39634	1.000000	0.80357	0.622000	0.37654	0.549000	0.23329	1.229000	0.43630	0.462000	0.41574	GAG	ACD	-	NULL	ENSG00000102977		0.547	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACD	HGNC	protein_coding	OTTHUMT00000268880.1	-	0	34	0	C	NM_022914	Nonsense_Mutation	67693165	-1	tier1	-	no_errors	ENST00000393919	ensembl	human	known	74_37	nonsense	15.25	50	9	SNP	1.000	A	A	67693165	C	A	67693165	5	1	26	1	0	0	0	0	0	0	1	0	135	869	30	3	944	3	ACD	16	67693165	Splice_Site	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	222523	67693165	22661588	265	6817											
NIP7	51388	genome.wustl.edu	37	chr16	69373946	69373946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aactgctggtggaccggcccGatggcacctactgtttccgt	6	10	12	13	3	0	0	0	0	0	0	1	2	1	1	4	4	3	3	4	4	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:69373946G>C	ENST00000254940.5	+	2	494	c.94G>C	c.(94-96)Gat>Cat	p.D32H	RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000569637.2_Missense_Mutation_p.D32H|RP11-343C2.7_ENST00000564737.1_Intron|COG8_ENST00000562081.1_5'Flank|COG8_ENST00000306875.4_5'Flank|NIP7_ENST00000254941.6_Missense_Mutation_p.D32H	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	32	N-terminal domain.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGACCGGCCCGATGGCACCTA	0.657											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	56	56					16																	69373946		2198	4300	6498	SO:0001583	missense	0			AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"nuclear import 7 homolog (S. cerevisiae)"			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.94G>C	16.37:g.69373946G>C	ENSP00000254940:p.Asp32His	1114	B2RD04|Q9NZZ0	Missense_Mutation	SNP	pfam_Rbsml_synth_fac_NIP7-like,superfamily_PUA-like_domain,smart_PUA,pirsf_Ribosomal_synth_fac_NIP7,pfscan_PUA	p.D32H	ENST00000254940.5	37	c.94	CCDS10877.1	16	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187260	0.57909	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	M	0.91300	3.195	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71656	0.973;0.974	D	0.88709	0.3221	9	0.87932	D	0	-6.1415	19.634	0.95722	0.0:0.0:1.0:0.0	.	32;32	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	H	32	.	ENSP00000254940:D32H	D	+	1	0	NIP7	67931447	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.069000	0.93967	2.642000	0.89623	0.456000	0.33151	GAT	NIP7	-	pfam_Rbsml_synth_fac_NIP7-like,pirsf_Ribosomal_synth_fac_NIP7	ENSG00000132603		0.657	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIP7	HGNC	protein_coding	OTTHUMT00000268947.2	-	0	63	0	G	NM_016101		69373946	1	tier1	-	no_errors	ENST00000254940	ensembl	human	known	74_37	missense	35.71	63	35	SNP	1.000	C	C	69373946	G	C	69373946	3	2	26	1	0	0	0	0	1	0	0	0	10460	1058	37	5	100	5	NIP7	16	69373946	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1680781	69373946	20980807	266	6818											
HYDIN	54768	genome.wustl.edu	37	chr16	71022384	71022384	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctctggcttgagtatattCtttctatttcagtagagcta	8	17	9	7	0	4	2	1	1	3	1	4	2	4	2	0	2	1	5	0	2	5	9			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:71022384C>G	ENST00000393567.2	-	26	4046	c.3896G>C	c.(3895-3897)aGa>aCa	p.R1299T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1299					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGAGTATATTCTTTCTATTTC	0.378																																																	0													1	1	1					16																	71022384		208	1080	1288	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3896G>C	16.37:g.71022384C>G	ENSP00000377197:p.Arg1299Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.R1299T	ENST00000393567.2	37	c.3896	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	6.396	0.441173	0.12164	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00856	5.61	4.84	1.8	0.24995	.	.	.	.	.	T	0.00998	0.0033	L	0.44542	1.39	0.23232	N	0.998074	B	0.33612	0.419	B	0.33690	0.168	T	0.47548	-0.9109	9	0.14656	T	0.56	.	7.1705	0.25717	0.0:0.7111:0.0:0.2889	.	1298	F8WD23	.	T	1299;1298	ENSP00000377197:R1299T	ENSP00000313052:R1298T	R	-	2	0	HYDIN	69579885	0.000000	0.05858	0.043000	0.18650	0.073000	0.16967	-0.050000	0.11904	0.194000	0.20326	0.511000	0.50034	AGA	HYDIN	-	NULL	ENSG00000157423		0.378	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0	10	0	C			71022384	-1			no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	33.33	6	3	SNP	0.225	G	G	71022384	C	G	71022384	3	3	26	1	0	0	0	0	1	0	0	0	7494	913	32	5	11713	5	HYDIN	16	71022384	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1648438	71022384	19332369	267	6819											
CHST6	4166	genome.wustl.edu	37	chr16	75512762	75512762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttgagcgcattcctggacGaagtcttgaaggcttcgcgg	7	10	14	10	5	1	2	0	2	1	0	3	4	2	3	1	3	1	3	1	3	2	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:75512762G>A	ENST00000332272.4	-	3	1144	c.965C>T	c.(964-966)tCg>tTg	p.S322L	CHST6_ENST00000390664.2_Missense_Mutation_p.S322L|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	322					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATTCCTGGACGAAGTCTTGAA	0.642																																																	0													70	62	65					16																	75512762		2198	4300	6498	SO:0001583	missense	0			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.965C>T	16.37:g.75512762G>A	ENSP00000328983:p.Ser322Leu		D3DUK3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.S322L	ENST00000332272.4	37	c.965	CCDS10918.1	16	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132558	0.56828	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99751	-6.63;-6.63	4.73	4.73	0.59995	Sulfotransferase domain (1);	0.177731	0.49305	D	0.000159	D	0.99058	0.9677	L	0.52011	1.625	0.31771	N	0.632165	B	0.24721	0.11	B	0.27887	0.084	D	0.99986	1.3365	10	0.51188	T	0.08	.	15.1951	0.73081	0.0:0.0:1.0:0.0	.	322	Q9GZX3	CHST6_HUMAN	L	322	ENSP00000328983:S322L;ENSP00000375079:S322L	ENSP00000328983:S322L	S	-	2	0	CHST6	74070263	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.468000	0.60162	2.194000	0.70268	0.591000	0.81541	TCG	CHST6	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000183196		0.642	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST6	HGNC	protein_coding	OTTHUMT00000435478.1	-	0	58	0	G	NM_021615		75512762	-1	tier1	-	no_errors	ENST00000332272	ensembl	human	known	74_37	missense	14.29	78	13	SNP	1.000	A	A	75512762	G	A	75512762	3	1	26	1	0	0	0	0	1	0	0	0	3415	1059	37	1	226	1	CHST6	16	75512762	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4490378	75512762	14841991	268	6820											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77317946	77317946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaggtgacaccagttgaaGaaatctacgcaggatggatc	14	8	11	8	1	1	3	0	2	1	1	2	5	1	5	1	3	1	2	1	3	4	3	rs147053635	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:77317946G>C	ENST00000282849.5	-	23	3991	c.3573C>G	c.(3571-3573)ttC>ttG	p.F1191L	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1191	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACCAGTTGAAGAAATCTACGC	0.388																																																	0													158	140	146					16																	77317946		2198	4300	6498	SO:0001583	missense	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3573C>G	16.37:g.77317946G>C	ENSP00000282849:p.Phe1191Leu		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F1191L	ENST00000282849.5	37	c.3573	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	G	9.673	1.147153	0.21288	.	.	ENSG00000140873	ENST00000282849	T	0.40225	1.04	5.93	4.98	0.66077	PLAC (2);	0.312619	0.35151	N	0.003405	T	0.29158	0.0725	N	0.25647	0.755	0.48185	D	0.999605	B	0.06786	0.001	B	0.06405	0.002	T	0.07908	-1.0748	10	0.11485	T	0.65	.	14.2478	0.65999	0.0711:0.0:0.9289:0.0	.	1191	Q8TE60	ATS18_HUMAN	L	1191	ENSP00000282849:F1191L	ENSP00000282849:F1191L	F	-	3	2	ADAMTS18	75875447	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	1.945000	0.40273	1.525000	0.49052	0.655000	0.94253	TTC	ADAMTS18	-	pfam_PLAC,pfscan_PLAC	ENSG00000140873		0.388	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0	35	0	G			77317946	-1	tier1	-	no_errors	ENST00000282849	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C	C	77317946	G	C	77317946	3	2	26	1	0	0	0	0	1	0	0	0	263	933	33	5	96	5	ADAMTS18	16	77317946	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1805184	77317946	13036807	269	6821											
GALNS	2588	genome.wustl.edu	37	chr16	88909193	88909193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccggtccaaattcggggtCtctctggagggctctccata	7	11	11	12	2	3	0	0	0	3	0	8	1	5	1	3	5	0	1	3	5	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:88909193C>G	ENST00000268695.5	-	2	253	c.165G>C	c.(163-165)gaG>gaC	p.E55D	GALNS_ENST00000542788.1_Intron|GALNS_ENST00000565364.1_5'UTR	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	55	Catalytic domain.		Missing (in MPS4A). {ECO:0000269|PubMed:16287098}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		AATTCGGGGTCTCTCTGGAGG	0.607																																					GBM(129;1929 2344 25209 33204)												0			GRCh37	CD041913	GALNS	D							60	54	56					16																	88909193		2197	4298	6495	SO:0001583	missense	0			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"Arylsulfatase family"	4122	protein-coding gene	gene with protein product	"Morquio syndrome", "mucopolysaccharidosis type IVA"	612222	"galactosamine (N-acetyl)-6-sulfate sulfatase"			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.165G>C	16.37:g.88909193C>G	ENSP00000268695:p.Glu55Asp		Q86VK3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E55D	ENST00000268695.5	37	c.165	CCDS10970.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038651	0.75617	.	.	ENSG00000141012	ENST00000268695	D	0.98633	-5.04	4.8	3.82	0.43975	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.049125	0.85682	D	0.000000	D	0.98466	0.9489	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97166	0.9841	10	0.35671	T	0.21	.	9.2154	0.37344	0.0:0.8209:0.0:0.1791	.	55;55	B2R6P1;P34059	.;GALNS_HUMAN	D	55	ENSP00000268695:E55D	ENSP00000268695:E55D	E	-	3	2	GALNS	87436694	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.575000	0.36493	2.388000	0.81334	0.561000	0.74099	GAG	GALNS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000141012		0.607	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	-	0	105	0	C			88909193	-1	tier1	-	no_errors	ENST00000268695	ensembl	human	known	74_37	missense	6.99	133	10	SNP	1.000	G	G	88909193	C	G	88909193	3	3	26	1	0	0	0	0	1	0	0	0	6231	912	32	5	1455	5	GALNS	16	88909193	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	11591247	88909193	1445560	270	6822											
ACSF3	197322	genome.wustl.edu	37	chr16	89167110	89167110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgccccatgtggtgctCaccttccggcgcctgggctg	3	10	13	15	2	1	0	1	0	0	0	2	0	2	0	5	3	3	3	5	3	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr16:89167110C>T	ENST00000317447.4	+	3	398	c.21C>T	c.(19-21)ctC>ctT	p.L7L	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Silent_p.L7L	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	7					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		ATGTGGTGCTCACCTTCCGGC	0.662																																																	0													14	15	15					16																	89167110		2170	4246	6416	SO:0001819	synonymous_variant	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.21C>T	16.37:g.89167110C>T			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L7	ENST00000317447.4	37	c.21	CCDS10974.1	16																																																																																			ACSF3	-	NULL	ENSG00000176715		0.662	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1		0	17	0	C	NM_174917		89167110	1			no_errors	ENST00000317447	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	T	T	89167110	C	T	89167110	2	4	26	1	0	0	0	0	0	0	0	1	176	813	29	3		3	ACSF3	16	89167110	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	257917	89167110	1187643	271	6823											
NLRP1	22861	genome.wustl.edu	37	chr17	5433952	5433952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaattcaatctcaacggtCaccgcttctctcatcacaaa	13	10	4	14	2	6	1	5	0	2	1	8	1	6	1	1	1	1	1	1	1	4	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:5433952C>T	ENST00000572272.1	-	12	3368	c.3369G>A	c.(3367-3369)gtG>gtA	p.V1123V	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.V1093V|NLRP1_ENST00000262467.5_Silent_p.V1127V|NLRP1_ENST00000345221.3_Silent_p.V1123V|NLRP1_ENST00000269280.4_Silent_p.V1123V|NLRP1_ENST00000577119.1_Silent_p.V1093V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1123					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCTCAACGGTCACCGCTTCTC	0.567																																																	0													90	83	85					17																	5433952		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3369G>A	17.37:g.5433952C>T			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.V1123	ENST00000572272.1	37	c.3369	CCDS42246.1	17																																																																																			NLRP1	-	NULL	ENSG00000091592		0.567	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1		0	28	0	C	NM_033004		5433952	-1			no_errors	ENST00000572272	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.358	T	T	5433952	C	T	5433952	2	4	26	1	0	0	0	0	0	0	0	1	10510	813	29	3		3	NLRP1	17	5433952	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09		5433952	75761258	272	6824											
TP53	7157	genome.wustl.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	62	0	T	NM_000546		7578190	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	48.00	26	24	SNP	0.998	C	C	7578190	T	C	7578190	3	2	26	1	0	0	0	0	1	0	0	0	16429	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	2144238	7578190	73617020	273	6825											
GUCY2D	3000	genome.wustl.edu	37	chr17	7910834	7910834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccacccacatgggggCacctctcgaaaggtggggga	8	8	13	12	1	2	0	0	0	2	0	4	2	2	1	3	5	0	1	3	5	1	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:7910834C>T	ENST00000254854.4	+	6	1704	c.1554C>T	c.(1552-1554)ggC>ggT	p.G518G		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	518					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CACATGGGGGCACCTCTCGAA	0.587																																																	0													71	70	71					17																	7910834		2203	4300	6503	SO:0001819	synonymous_variant	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1554C>T	17.37:g.7910834C>T			Q6LEA7	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G518	ENST00000254854.4	37	c.1554	CCDS11127.1	17																																																																																			GUCY2D	-	smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom	ENSG00000132518		0.587	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	-	0	30	0	C			7910834	1	tier1	-	no_errors	ENST00000254854	ensembl	human	known	74_37	silent	50.00	11	11	SNP	1.000	T	T	7910834	C	T	7910834	2	4	26	1	0	0	0	0	0	0	0	1	6924	697	25	3		3	GUCY2D	17	7910834	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	332644	7910834	73284376	274	6826											
PER1	5187	genome.wustl.edu	37	chr17	8045267	8045267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgcttcagcacagaggtCatgtccctgcccaagaaggg	9	8	11	13	0	2	2	2	0	0	2	4	2	4	2	3	2	3	2	3	2	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:8045267C>T	ENST00000317276.4	-	22	3693	c.3456G>A	c.(3454-3456)atG>atA	p.M1152I	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Missense_Mutation_p.M1129I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1152	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCACAGAGGTCATGTCCCTGC	0.617			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													43	45	45					17																	8045267		2203	4300	6503	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3456G>A	17.37:g.8045267C>T	ENSP00000314420:p.Met1152Ile		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.M1152I	ENST00000317276.4	37	c.3456	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080249	0.20309	.	.	ENSG00000179094	ENST00000317276	T	0.12465	2.68	5.67	2.61	0.31194	Period circadian-like, C-terminal (1);	0.326011	0.35378	N	0.003260	T	0.04452	0.0122	N	0.03253	-0.375	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.001	T	0.36138	-0.9760	10	0.10902	T	0.67	-3.2775	4.9866	0.14192	0.0:0.5915:0.1527:0.2558	.	1143;1152	A2I2P6;O15534	.;PER1_HUMAN	I	1152	ENSP00000314420:M1152I	ENSP00000314420:M1152I	M	-	3	0	PER1	7985992	0.551000	0.26497	0.989000	0.46669	0.948000	0.59901	0.632000	0.24583	0.342000	0.23796	0.655000	0.94253	ATG	PER1	-	pfam_Period_circadian-like_C	ENSG00000179094		0.617	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	-	0	126	0	C			8045267	-1	tier1	-	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	32.00	68	32	SNP	1.000	T	T	8045267	C	T	8045267	3	4	26	1	0	0	0	0	1	0	0	0	11768	826	29	3	424	3	PER1	17	8045267	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	134433	8045267	73149943	275	6827											
FAM83G	644815	genome.wustl.edu	37	chr17	18882138	18882138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacagagatcacattccggtCcgtccgcgcggccgaccacg	8	5	11	17	7	1	1	1	0	0	1	4	3	4	1	5	2	0	0	5	2	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:18882138C>T	ENST00000388995.6	-	5	1064	c.841G>A	c.(841-843)Gac>Aac	p.D281N	FAM83G_ENST00000585154.2_Missense_Mutation_p.D281N|FAM83G_ENST00000345041.4_Missense_Mutation_p.D281N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	281					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ACATTCCGGTCCGTCCGCGCG	0.637																																																	0													46	50	49					17																	18882138		2157	4249	6406	SO:0001583	missense	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.841G>A	17.37:g.18882138C>T	ENSP00000373647:p.Asp281Asn		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.D281N	ENST00000388995.6	37	c.841	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726658	0.89298	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.18174	2.23;2.23	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	L	0.35723	1.085	0.50467	D	0.999871	D	0.57571	0.98	D	0.62955	0.909	T	0.02320	-1.1177	10	0.13853	T	0.58	-39.1033	18.558	0.91091	0.0:1.0:0.0:0.0	.	281	A6ND36	FA83G_HUMAN	N	281	ENSP00000373647:D281N;ENSP00000343279:D281N	ENSP00000343279:D281N	D	-	1	0	FAM83G	18822863	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	6.089000	0.71384	2.377000	0.81083	0.561000	0.74099	GAC	FAM83G	-	pfam_DUF1669	ENSG00000188522		0.637	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	-	0	61	0	C			18882138	-1	tier1	-	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	T	T	18882138	C	T	18882138	3	4	26	1	0	0	0	0	1	0	0	0	5661	855	30	3	1638	3	FAM83G	17	18882138	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	10836871	18882138	62313072	276	6828											
FAM83G	644815	genome.wustl.edu	37	chr17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccattgtcctcgggcccctGagaggggcccgtgccccgag	4	6	14	17	3	0	1	0	1	0	1	2	3	1	1	7	3	1	0	7	3	0	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701																																																	0																																										SO:0001587	stop_gained	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.262C>T	17.37:g.18907093G>A	ENSP00000373647:p.Gln88*		Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	pfam_DUF1669	p.Q88*	ENST00000388995.6	37	c.262	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.087375	0.97271	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	.	.	.	4.79	1.22	0.21188	.	7.777730	0.00589	U	0.000352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.6454	8.642	0.33983	0.0993:0.2826:0.6181:0.0	.	.	.	.	X	88	.	ENSP00000343279:Q88X	Q	-	1	0	FAM83G	18847818	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	0.222000	0.17699	0.985000	0.38656	0.491000	0.48974	CAG	FAM83G	-	pfam_DUF1669	ENSG00000188522		0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	-	0	65	0	G			18907093	-1	tier1	-	no_errors	ENST00000345041	ensembl	human	known	74_37	nonsense	42.86	28	21	SNP	0.000	A	A	18907093	G	A	18907093	4	1	26	1	0	0	0	0	0	1	0	0	5661	1299	45	3	2229	3	FAM83G	17	18907093	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	24955	18907093	62288117	277	6829											
FAM83G	644815	genome.wustl.edu	37	chr17	18907111	18907111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagaggggcccgtgccccGagggtcctcagagcccgggt	5	5	17	14	3	1	2	1	1	0	2	2	4	2	2	5	4	2	0	5	4	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:18907111G>A	ENST00000388995.6	-	2	467	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	FAM83G_ENST00000585154.2_Missense_Mutation_p.R82W|FAM83G_ENST00000345041.4_Missense_Mutation_p.R82W|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	82					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCGTGCCCCGAGGGTCCTCA	0.697																																																	0													16	19	18					17																	18907111		1847	4084	5931	SO:0001583	missense	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.244C>T	17.37:g.18907111G>A	ENSP00000373647:p.Arg82Trp		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.R82W	ENST00000388995.6	37	c.244	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491068	0.26774	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.13901	2.55;2.55	4.79	2.67	0.31697	.	.	.	.	.	T	0.33089	0.0851	M	0.68593	2.085	0.18873	N	0.999987	D	0.89917	1.0	D	0.70935	0.971	T	0.08680	-1.0710	9	0.72032	D	0.01	-21.1307	11.6166	0.51094	0.0:0.0:0.5034:0.4966	.	82	A6ND36	FA83G_HUMAN	W	82	ENSP00000373647:R82W;ENSP00000343279:R82W	ENSP00000343279:R82W	R	-	1	2	FAM83G	18847836	0.043000	0.20138	0.031000	0.17742	0.860000	0.49131	1.430000	0.34914	0.360000	0.24265	0.491000	0.48974	CGG	FAM83G	-	pfam_DUF1669	ENSG00000188522		0.697	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	-	0	85	0	G			18907111	-1	tier1	-	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	43.75	36	28	SNP	0.116	A	A	18907111	G	A	18907111	3	1	26	1	0	0	0	0	1	0	0	0	5661	1057	37	1	2247	1	FAM83G	17	18907111	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	18	18907111	62288099	278	6830											
NLK	51701	genome.wustl.edu	37	chr17	26512224	26512224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatctcttcctgtactctAtaccctgtctagccaggcta	7	13	6	15	0	3	0	0	0	3	0	5	0	4	0	4	1	3	2	4	1	5	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:26512224A>G	ENST00000407008.3	+	8	1887	c.1169A>G	c.(1168-1170)tAt>tGt	p.Y390C		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|Sufficient for interaction with DAPK3.				intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of Wnt signaling pathway (GO:0030178)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|serine phosphorylation of STAT3 protein (GO:0033136)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase activity (GO:0004707)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|SH2 domain binding (GO:0042169)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCTGTACTCTATACCCTGTCT	0.338																																																	0													73	61	65					17																	26512224		2203	4300	6503	SO:0001583	missense	0			AF197898	CCDS11224.2	17q11.2	2005-12-22	2005-12-22		ENSG00000087095	ENSG00000087095			29858	protein-coding gene	gene with protein product		609476	"nemo like kinase"			9448268, 10863097	Standard	NM_016231		Approved		uc010crj.3	Q9UBE8	OTTHUMG00000132451	ENST00000407008.3:c.1169A>G	17.37:g.26512224A>G	ENSP00000384625:p.Tyr390Cys		B2RCX1|Q2PNI9|Q6P2A3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y390C	ENST00000407008.3	37	c.1169	CCDS11224.2	17	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568044	0.65651	.	.	ENSG00000087095	ENST00000407008	T	0.44881	0.91	5.93	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.58302	1.8	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.58951	-0.7545	10	0.56958	D	0.05	-15.1507	11.2557	0.49052	0.9292:0.0:0.0708:0.0	.	390	Q9UBE8	NLK_HUMAN	C	390	ENSP00000384625:Y390C	ENSP00000384625:Y390C	Y	+	2	0	NLK	23536351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.730000	0.91510	1.082000	0.41137	-0.256000	0.11100	TAT	NLK	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000087095		0.338	NLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLK	HGNC	protein_coding	OTTHUMT00000255607.3	-	0	29	0	A	NM_016231		26512224	1	tier1	-	no_errors	ENST00000407008	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	G	G	26512224	A	G	26512224	3	3	26	1	0	0	0	0	1	0	0	0	10505	449	16	4	1199	4	NLK	17	26512224	Missense_Mutation	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	7605113	26512224	54682986	279	6831											
NF1	4763	genome.wustl.edu	37	chr17	29527461	29527461	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttatttctggacagtctaCgaaaagctcttgctggccat	10	13	9	9	1	3	0	0	0	3	0	3	2	3	1	1	2	3	3	1	2	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:29527461C>T	ENST00000358273.4	+	9	1293	c.910C>T	c.(910-912)Cga>Tga	p.R304*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R304*|NF1_ENST00000431387.4_Nonsense_Mutation_p.R304*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	304					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.R304*(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGACAGTCTACGAAAAGCTCT	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	18	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(4)	soft_tissue(10)|central_nervous_system(4)|autonomic_ganglia(3)|lung(1)	GRCh37	CS983483	NF1	S							80	72	74					17																	29527461		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.910C>T	17.37:g.29527461C>T	ENSP00000351015:p.Arg304*		O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.R304*	ENST00000358273.4	37	c.910	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	40	7.928131	0.98565	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.17	2.99	0.34606	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.49	0.50375	0.6198:0.3802:0.0:0.0	.	.	.	.	X	304	.	ENSP00000348498:R304X	R	+	1	2	NF1	26551587	0.936000	0.31750	0.786000	0.31890	0.980000	0.70556	1.652000	0.37313	1.151000	0.42436	0.591000	0.81541	CGA	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	-	0	64	0	C	NM_000267		29527461	1	tier1	-	no_errors	ENST00000358273	ensembl	human	known	74_37	nonsense	35.14	48	26	SNP	0.989	T	T	29527461	C	T	29527461	4	4	26	1	0	0	0	0	0	1	0	0	10395	528	19	1	944	1	NF1	17	29527461	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3015237	29527461	51667749	280	6832											
MAP3K14	100133991	genome.wustl.edu	37	chr17	43344565	43344565	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgttgaggaataatTctgcagggaaaagtggaaga	15	8	14	4	0	1	2	0	1	1	1	1	5	1	5	0	4	1	3	0	4	5	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:43344565T>A	ENST00000585780.1	+	0	1701				MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA					MAP3K14 antisense RNA 1																		GAGGAATAATTCTGCAGGGAA	0.542																																																	0													20	21	21					17																	43344565		1923	4138	6061			0			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"Long non-coding RNAs"	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43344565T>A				RNA	SNP	-	NULL	ENST00000585780.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	T	25.9	4.686303	0.88639	.	.	ENSG00000006062	ENST00000344686	.	.	.	5.93	5.93	0.95920	.	0.092418	0.85682	D	0.000000	T	0.75744	0.3891	L	0.53249	1.67	0.40209	D	0.977605	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.79431	-0.1806	8	0.72032	D	0.01	.	15.5609	0.76244	0.0:0.0:0.0:1.0	.	776;306	Q99558;Q6ZMZ1	M3K14_HUMAN;.	V	775	.	ENSP00000342059:E775V	E	-	2	0	MAP3K14	40700348	1.000000	0.71417	0.885000	0.34714	0.865000	0.49528	5.887000	0.69751	2.271000	0.75665	0.533000	0.62120	GAA	MAP3K14	-	-	ENSG00000006062		0.542	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14	HGNC	antisense	OTTHUMT00000450941.1	-	0	83	0	T	NR_024434		43344565	-1	tier1	-	no_errors	ENST00000344686	ensembl	human	known	74_37	rna	63.10	31	53	SNP	0.998	A	A	43344565	T	A	43344565	1	1	26	0	1	0	0	0	0	0	0	0	9286	1797	62	5		5	MAP3K14	17	43344565	RNA	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	13817104	43344565	37850645	281	6833											
CDC27	996	genome.wustl.edu	37	chr17	45234325	45234325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcctcctaataaacttcGaccagtttttggtttatttt	8	19	6	8	1	0	0	0	0	0	0	3	1	2	0	3	2	1	2	3	2	4	9			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R266*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATAAACTTCGACCAGTTTTT	0.363																																																	0													60	65	63					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.796C>T	17.37:g.45234325G>A	ENSP00000066544:p.Arg266*		G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R266*	ENST00000066544.3	37	c.796	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117088	0.77323	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.64	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5002	13.5956	0.61987	0.0:0.0:0.8433:0.1567	.	.	.	.	X	266;266;205;266;266	.	ENSP00000066544:R266X	R	-	1	2	CDC27	42589324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.123000	0.71614	1.354000	0.45846	0.460000	0.39030	CGA	CDC27	-	NULL	ENSG00000004897		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0	43	0	G			45234325	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	nonsense	11.11	40	5	SNP	1.000	A	A	45234325	G	A	45234325	4	1	26	1	0	0	0	0	0	1	0	0	3073	1066	37	1	1748	1	CDC27	17	45234325	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1889760	45234325	35960885	282	6834											
EPX	8288	genome.wustl.edu	37	chr17	56271143	56271143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctctccgggaccaggccGagcgctgcagcgacaagtac	8	5	14	14	4	1	0	0	0	1	0	2	3	1	1	3	2	5	4	3	2	2	1	rs369339605		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:56271143G>A	ENST00000225371.5	+	4	525	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	139					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E139K(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GGACCAGGCCGAGCGCTGCAG	0.657																																																	1	Substitution - Missense(1)	large_intestine(1)						G	LYS/GLU	2,4404	2.1+/-5.4	0,2,2201	37	33	34		415	4.6	0.8	17		34	0,8600		0,0,4300	no	missense	EPX	NM_000502.4	56	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	139/716	56271143	2,13004	2203	4300	6503	SO:0001583	missense	0			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.415G>A	17.37:g.56271143G>A	ENSP00000225371:p.Glu139Lys		Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.E139K	ENST00000225371.5	37	c.415	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	9.801	1.180569	0.21787	4.54E-4	0.0	ENSG00000121053	ENST00000225371	T	0.70399	-0.48	4.6	4.6	0.57074	.	0.309988	0.34959	N	0.003557	T	0.59197	0.2176	M	0.63428	1.95	0.09310	N	1	P	0.37612	0.602	B	0.27796	0.083	T	0.54043	-0.8352	10	0.24483	T	0.36	-26.4847	9.0188	0.36186	0.1029:0.0:0.8971:0.0	.	139	P11678	PERE_HUMAN	K	139	ENSP00000225371:E139K	ENSP00000225371:E139K	E	+	1	0	EPX	53626142	0.459000	0.25768	0.822000	0.32727	0.017000	0.09413	3.558000	0.53749	2.263000	0.75096	0.442000	0.29010	GAG	EPX	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000121053		0.657	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	-	0	40	0	G	NM_000502		56271143	1	tier1	-	no_errors	ENST00000225371	ensembl	human	known	74_37	missense	31.58	39	18	SNP	0.123	A	A	56271143	G	A	56271143	3	1	26	1	0	0	0	0	1	0	0	0	5216	1059	37	1	429	1	EPX	17	56271143	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	11036818	56271143	24924067	283	6835											
BRIP1	83990	genome.wustl.edu	37	chr17	59938866	59938866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggaaagtaaatcttcaccCcaccaattgtatattcagac	16	10	5	10	0	3	1	2	0	1	1	3	2	3	2	3	1	0	2	3	1	7	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:59938866C>T	ENST00000259008.2	-	2	302	c.35G>A	c.(34-36)gGg>gAg	p.G12E	BRIP1_ENST00000577598.1_Missense_Mutation_p.G12E	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	12	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATCTTCACCCCACCAATTGT	0.323			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													128	115	119					17																	59938866		2203	4300	6503	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.35G>A	17.37:g.59938866C>T	ENSP00000259008:p.Gly12Glu		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.G12E	ENST00000259008.2	37	c.35	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255910	0.22965	.	.	ENSG00000136492	ENST00000259008	T	0.76448	-1.02	5.09	5.09	0.68999	Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.050981	0.85682	D	0.000000	D	0.89220	0.6653	M	0.85099	2.735	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90198	0.4255	9	.	.	.	-8.7027	17.4723	0.87649	0.0:1.0:0.0:0.0	.	12	Q9BX63	FANCJ_HUMAN	E	12	ENSP00000259008:G12E	.	G	-	2	0	BRIP1	57293648	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	6.442000	0.73443	2.379000	0.81126	0.655000	0.94253	GGG	BRIP1	-	superfamily_P-loop_NTPase,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3	ENSG00000136492		0.323	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	-	0	23	0	C	NM_032043		59938866	-1	tier1	-	no_errors	ENST00000259008	ensembl	human	known	74_37	missense	50.00	17	17	SNP	1.000	T	T	59938866	C	T	59938866	3	4	26	1	0	0	0	0	1	0	0	0	1518	623	22	3	3790	3	BRIP1	17	59938866	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3667723	59938866	21256344	284	6836											
DNAH17	8632	genome.wustl.edu	37	chr17	76525741	76525741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggcttggtcaagcccattCtggcgactttcatgaaggct	7	11	13	10	1	3	1	2	1	1	0	3	2	3	1	1	5	1	2	1	5	2	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:76525741C>G	ENST00000585328.1	-	22	3435	c.3311G>C	c.(3310-3312)aGa>aCa	p.R1104T	DNAH17_ENST00000389840.5_Missense_Mutation_p.R1107T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1107	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAAGCCCATTCTGGCGACTTT	0.592																																																	0													94	95	95					17																	76525741		1952	4150	6102	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.3311G>C	17.37:g.76525741C>G	ENSP00000465516:p.Arg1104Thr		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.R1107T	ENST00000585328.1	37	c.3320		17	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112861	0.08831	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.22743	1.94	4.96	4.0	0.46444	.	.	.	.	.	T	0.13372	0.0324	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.27157	-1.0082	7	0.23302	T	0.38	.	4.6735	0.12701	0.0:0.5839:0.1632:0.2529	.	.	.	.	T	1104;1107	ENSP00000374490:R1107T	ENSP00000300671:R1104T	R	-	2	0	DNAH17	74037336	0.000000	0.05858	0.207000	0.23584	0.243000	0.25628	0.423000	0.21313	1.081000	0.41110	0.561000	0.74099	AGA	DNAH17	-	NULL	ENSG00000187775		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0	80	0	C	NM_173628		76525741	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	24.11	85	27	SNP	0.001	G	G	76525741	C	G	76525741	3	3	26	1	0	0	0	0	1	0	0	0	4615	913	32	5	10308	5	DNAH17	17	76525741	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	16586875	76525741	4669469	285	6837											
NARF	26502	genome.wustl.edu	37	chr17	80442792	80442792	+	Missense_Mutation	SNP	G	G	A																															cggccaaggagctgttcaacGaggatgtggaggaggtcact																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:80442792G>A	ENST00000309794.11	+	9	1135	c.937G>A	c.(937-939)Gag>Aag	p.E313K	NARF_ENST00000345415.7_Missense_Mutation_p.E265K|NARF_ENST00000390006.4_Missense_Mutation_p.E254K|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000457415.3_Missense_Mutation_p.E359K	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	313						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCTGTTCAACGAGGATGTGGA	0.572																																																	0													168	118	135					17																	80442792		2203	4300	6503	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.937G>A	17.37:g.80442792G>A	ENSP00000309899:p.Glu313Lys		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.E313K	ENST00000309794.11	37	c.937	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	14.11	2.436599	0.43224	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.40476	1.03;1.03;1.03	5.38	2.88	0.33553	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.199306	0.51477	D	0.000090	T	0.15219	0.0367	N	0.05534	-0.03	0.80722	D	1	B;B;B;B	0.29552	0.209;0.085;0.248;0.046	B;B;B;B	0.28465	0.036;0.021;0.09;0.036	T	0.19910	-1.0291	10	0.06099	T	0.92	-22.6592	4.2433	0.10660	0.2281:0.0:0.5796:0.1923	.	359;265;360;313	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	K	254;360;313;265	ENSP00000374656:E254K;ENSP00000309899:E313K;ENSP00000283996:E265K	ENSP00000309899:E313K	E	+	1	0	NARF	78036081	0.443000	0.25641	0.756000	0.31282	0.943000	0.58893	0.900000	0.28431	2.516000	0.84829	0.561000	0.74099	GAG	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase	ENSG00000141562		0.572	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	-	0	148	0	G	NM_031968		80442792	1	tier1	-	no_errors	ENST00000309794	ensembl	human	known	74_37	missense	8.91	184	18	SNP	0.829	A	A	80442792	G	A	80442792	3	1	26	1	0	0	0	0	1	0	0	0	10205	1059	37	1	1113	1	NARF	17	80442792	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	3917051	80442792	752418	286	6838	26	2	1	9		4	3	610	N	G	2.145738e-05
NARF	26502	genome.wustl.edu	37	chr17	80442801	80442801	+	Missense_Mutation	SNP	G	G	A																															agctgttcaacgaggatgtgGaggaggtcacttaccgagcc																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:80442801G>A	ENST00000309794.11	+	9	1144	c.946G>A	c.(946-948)Gag>Aag	p.E316K	NARF_ENST00000345415.7_Missense_Mutation_p.E268K|NARF_ENST00000390006.4_Missense_Mutation_p.E257K|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000457415.3_Missense_Mutation_p.E362K	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	316						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGAGGATGTGGAGGAGGTCAC	0.577																																																	0													166	115	132					17																	80442801		2203	4300	6503	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.946G>A	17.37:g.80442801G>A	ENSP00000309899:p.Glu316Lys		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.E316K	ENST00000309794.11	37	c.946	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	15.28	2.786309	0.49997	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.42513	0.97;0.97;0.97	5.38	3.13	0.36017	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.319905	0.38492	N	0.001666	T	0.17492	0.0420	N	0.05330	-0.07	0.80722	D	1	B;B;B;B	0.14012	0.007;0.0;0.009;0.001	B;B;B;B	0.21360	0.013;0.008;0.034;0.01	T	0.13098	-1.0522	10	0.12103	T	0.63	-35.9428	4.9591	0.14057	0.1374:0.4232:0.4394:0.0	.	362;268;363;316	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	K	257;363;316;268	ENSP00000374656:E257K;ENSP00000309899:E316K;ENSP00000283996:E268K	ENSP00000309899:E316K	E	+	1	0	NARF	78036090	0.726000	0.28059	1.000000	0.80357	0.926000	0.56050	0.594000	0.24014	2.516000	0.84829	0.561000	0.74099	GAG	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase	ENSG00000141562		0.577	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	-	0	156	0	G	NM_031968		80442801	1	tier1	-	no_errors	ENST00000309794	ensembl	human	known	74_37	missense	8.70	189	18	SNP	1.000	A	A	80442801	G	A	80442801	3	1	26	1	0	0	0	0	1	0	0	0	10205	1175	41	3	1122	3	NARF	17	80442801	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	9	80442801	752409	287	6839	26	2	1	9		4	3	610	N	G	2.145738e-05
NARF	26502	genome.wustl.edu	37	chr17	80443380	80443380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcattttgtagaaacaaaGacttccaagaggtcaccctt	13	12	7	9	0	2	3	2	0	0	3	3	3	3	3	2	1	1	2	2	1	4	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:80443380G>C	ENST00000309794.11	+	10	1177	c.979G>C	c.(979-981)Gac>Cac	p.D327H	NARF_ENST00000345415.7_Missense_Mutation_p.D279H|NARF_ENST00000390006.4_Missense_Mutation_p.D268H|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000457415.3_Missense_Mutation_p.D373H	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	327						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TAGAAACAAAGACTTCCAAGA	0.413																																																	0													112	110	110					17																	80443380		2203	4300	6503	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.979G>C	17.37:g.80443380G>C	ENSP00000309899:p.Asp327His		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.D327H	ENST00000309794.11	37	c.979	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	14.23	2.472634	0.43942	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.50813	0.73;0.73;0.73	5.32	5.32	0.75619	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	H	0.95187	3.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.85659	0.1287	10	0.87932	D	0	-9.8846	17.9724	0.89117	0.0:0.0:1.0:0.0	.	373;279;374;327	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	H	268;374;327;279	ENSP00000374656:D268H;ENSP00000309899:D327H;ENSP00000283996:D279H	ENSP00000309899:D327H	D	+	1	0	NARF	78036669	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.426000	0.80270	2.480000	0.83734	0.561000	0.74099	GAC	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase	ENSG00000141562		0.413	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	-	0	50	0	G	NM_031968		80443380	1	tier1	-	no_errors	ENST00000309794	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	C	C	80443380	G	C	80443380	3	2	26	1	0	0	0	0	1	0	0	0	10205	942	33	5	1159	5	NARF	17	80443380	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	579	80443380	751830	288	6840			1	9		4	3	610	N	G	2.145738e-05
NARF	26502	genome.wustl.edu	37	chr17	80443401	80443401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttccaagaggtcacccttGagaagaacggagaggtggtg	12	7	14	8	1	1	4	1	1	0	4	2	6	2	4	2	4	1	0	2	4	3	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:80443401G>C	ENST00000309794.11	+	10	1198	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	NARF_ENST00000345415.7_Missense_Mutation_p.E286Q|NARF_ENST00000390006.4_Missense_Mutation_p.E275Q|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000457415.3_Missense_Mutation_p.E380Q	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	334						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGTCACCCTTGAGAAGAACGG	0.418																																																	0													136	128	130					17																	80443401		2203	4300	6503	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1000G>C	17.37:g.80443401G>C	ENSP00000309899:p.Glu334Gln		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.E334Q	ENST00000309794.11	37	c.1000	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	13.58	2.280124	0.40294	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.45276	0.9;0.9;0.9	5.32	5.32	0.75619	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;1.0;1.0	T	0.57871	-0.7736	10	0.31617	T	0.26	-13.4437	17.9724	0.89117	0.0:0.0:1.0:0.0	.	380;286;381;334	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	Q	275;381;334;286	ENSP00000374656:E275Q;ENSP00000309899:E334Q;ENSP00000283996:E286Q	ENSP00000309899:E334Q	E	+	1	0	NARF	78036690	1.000000	0.71417	0.161000	0.22692	0.763000	0.43281	7.335000	0.79234	2.480000	0.83734	0.561000	0.74099	GAG	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase	ENSG00000141562		0.418	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	-	0	53	0	G	NM_031968		80443401	1	tier1	-	no_errors	ENST00000309794	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	C	C	80443401	G	C	80443401	3	2	26	1	0	0	0	0	1	0	0	0	10205	1291	45	5	1180	5	NARF	17	80443401	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	21	80443401	751809	289	6841			1	9		4	3	610	N	G	2.145738e-05
TBCD	6904	genome.wustl.edu	37	chr17	80879433	80879433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctccatctcatctcaagtCactcccgccagcagatgaag	11	9	6	15	1	4	2	3	1	3	1	8	2	5	2	3	0	1	1	3	0	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr17:80879433C>T	ENST00000355528.4	+	25	2288	c.2158C>T	c.(2158-2160)Cac>Tac	p.H720Y	TBCD_ENST00000539345.2_Missense_Mutation_p.H720Y|RP11-497H17.1_ENST00000571113.1_lincRNA	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	720					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CATCTCAAGTCACTCCCGCCA	0.507																																																	0													93	98	96					17																	80879433		2157	4262	6419	SO:0001583	missense	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2158C>T	17.37:g.80879433C>T	ENSP00000347719:p.His720Tyr		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.H720Y	ENST00000355528.4	37	c.2158	CCDS45818.1	17	.	.	.	.	.	.	.	.	.	.	C	3.258	-0.151758	0.06585	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.69040	-0.37	4.61	2.26	0.28386	Armadillo-like helical (1);Armadillo-type fold (1);	1.058890	0.07290	N	0.872306	T	0.59032	0.2164	L	0.59436	1.845	0.09310	N	0.999995	P;P;B;B	0.50443	0.935;0.893;0.011;0.072	B;B;B;B	0.40506	0.331;0.127;0.004;0.094	T	0.53085	-0.8488	9	.	.	.	.	4.334	0.11078	0.2848:0.597:0.0:0.1182	.	720;720;720;720	B4DE53;Q9BTW9;Q9BTW9-4;F5H8C7	.;TBCD_HUMAN;.;.	Y	720;471	ENSP00000347719:H720Y	.	H	+	1	0	TBCD	78472722	0.004000	0.15560	0.068000	0.19968	0.087000	0.18053	0.656000	0.24948	1.057000	0.40506	0.585000	0.79938	CAC	TBCD	-	superfamily_ARM-type_fold	ENSG00000141556		0.507	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	-	0	57	0	C	NM_005993		80879433	1	tier1	-	no_errors	ENST00000355528	ensembl	human	known	74_37	missense	13.48	77	12	SNP	0.141	T	T	80879433	C	T	80879433	3	4	26	1	0	0	0	0	1	0	0	0	15680	826	29	3	2256	3	TBCD	17	80879433	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	436032	80879433	315777	290	6842											
ZFP161	7541	genome.wustl.edu	37	chr18	5291265	5291265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggtgggcctgtgtggtGaaaccttttgtgcacatttc	6	15	12	8	0	1	1	1	1	0	0	2	1	1	1	2	3	2	1	2	3	1	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr18:5291265G>A	ENST00000357006.4	-	4	1280	c.942C>T	c.(940-942)ttC>ttT	p.F314F	ZBTB14_ENST00000400143.3_Silent_p.F314F	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	314					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										CCTGTGTGGTGAAACCTTTTG	0.473																																																	0													132	126	128					18																	5291265		2203	4300	6503	SO:0001819	synonymous_variant	0			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.942C>T	18.37:g.5291265G>A			O00403|Q2TB80	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F314	ENST00000357006.4	37	c.942	CCDS11837.1	18																																																																																			ZBTB14	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198081		0.473	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB14	HGNC	protein_coding	OTTHUMT00000254425.1	-	0	102	0	G	NM_003409		5291265	-1	tier1	-	no_errors	ENST00000357006	ensembl	human	known	74_37	silent	13.21	92	14	SNP	0.995	A	A	5291265	G	A	5291265	2	1	26	1	0	0	0	0	0	0	0	1	17688	1281	45	3		3	ZFP161	18	5291265	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		5291265	72785983	291	6843											
INO80C	125476	genome.wustl.edu	37	chr18	33048694	33048694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcagtttgctctgggggtCtgtgtagttggcctgggtga	3	13	17	8	1	2	1	0	1	2	0	2	1	2	1	2	4	1	5	2	4	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr18:33048694C>T	ENST00000334598.7	-	5	576	c.460G>A	c.(460-462)Gac>Aac	p.D154N	INO80C_ENST00000586489.1_Missense_Mutation_p.D99N|INO80C_ENST00000441607.2_Missense_Mutation_p.D190N|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000590757.1_Missense_Mutation_p.D57N|INO80C_ENST00000592173.1_Intron|RP11-322E11.5_ENST00000591141.1_lincRNA	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	154					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CTCTGGGGGTCTGTGTAGTTG	0.488																																																	0													84	86	86					18																	33048694		2203	4300	6503	SO:0001583	missense	0				CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"INO80 complex subunits"	26994	protein-coding gene	gene with protein product	"IES6 homolog (S. cerevisiae)"		"chromosome 18 open reading frame 37"	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.460G>A	18.37:g.33048694C>T	ENSP00000334473:p.Asp154Asn		B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	pfam_YL1_C	p.D190N	ENST00000334598.7	37	c.568	CCDS11914.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.178194	0.94846	.	.	ENSG00000153391	ENST00000441607;ENST00000334598	.	.	.	5.29	5.29	0.74685	YL1 nuclear, C-terminal (1);	.	.	.	.	T	0.78547	0.4300	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.979;0.981	T	0.79787	-0.1656	8	0.52906	T	0.07	.	16.4478	0.83947	0.0:1.0:0.0:0.0	.	190;154	E9PCS7;Q6PI98	.;IN80C_HUMAN	N	190;154	.	ENSP00000334473:D154N	D	-	1	0	INO80C	31302692	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	7.511000	0.81718	2.474000	0.83562	0.557000	0.71058	GAC	INO80C	-	pfam_YL1_C	ENSG00000153391		0.488	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80C	HGNC	protein_coding	OTTHUMT00000255768.1	-	0	61	0	C	NM_194281		33048694	-1	tier1	-	no_errors	ENST00000441607	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	T	T	33048694	C	T	33048694	3	4	26	1	0	0	0	0	1	0	0	0	7775	913	32	3	122	3	INO80C	18	33048694	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	27757429	33048694	45028554	292	6844											
RPRD1A	55197	genome.wustl.edu	37	chr18	33606966	33606966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctatttctgccgccaatCtgccattgtaatctgccagc	8	13	6	14	1	4	0	0	0	4	0	4	0	4	0	4	0	4	1	4	0	3	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr18:33606966C>T	ENST00000399022.4	-	6	857	c.686G>A	c.(685-687)aGa>aAa	p.R229K	RPRD1A_ENST00000357384.4_Missense_Mutation_p.R229K|RPRD1A_ENST00000588737.1_Missense_Mutation_p.R193K|RPRD1A_ENST00000337059.5_Missense_Mutation_p.R193K|RPRD1A_ENST00000319040.6_Missense_Mutation_p.R229K|RPRD1A_ENST00000590898.1_Missense_Mutation_p.R193K	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	229					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TGCCGCCAATCTGCCATTGTA	0.393																																																	0													85	80	82					18																	33606966		2203	4298	6501	SO:0001583	missense	0			AF419845	CCDS11917.1	18q12.2	2012-02-09	2008-08-15		ENSG00000141425	ENSG00000141425			25560	protein-coding gene	gene with protein product	"cyclin-dependent kinase 2B-inhibitor-related protein", "Cyclin-dependent kinase inhibitor 2B-related protein (p15INK4B-related protein)"	610347				12470661, 22231121	Standard	NM_018170		Approved	P15RS, FLJ10656, HsT3101	uc002kzg.3	Q96P16	OTTHUMG00000132591	ENST00000399022.4:c.686G>A	18.37:g.33606966C>T	ENSP00000381984:p.Arg229Lys		A8KA42|B2RBA3|Q7Z5G8|Q96FY9|Q9NVL4	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom	p.R229K	ENST00000399022.4	37	c.686	CCDS11917.1	18	.	.	.	.	.	.	.	.	.	.	C	32	5.159666	0.94686	.	.	ENSG00000141425	ENST00000399022;ENST00000357384;ENST00000337059;ENST00000319040	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	M	0.69463	2.115	0.80722	D	1	D;P;D	0.69078	0.997;0.723;0.985	D;P;P	0.63877	0.919;0.465;0.868	T	0.74970	-0.3482	9	0.41790	T	0.15	-11.5558	16.6337	0.85040	0.0:1.0:0.0:0.0	.	229;229;193	Q96P16-2;Q96P16;Q96P16-3	.;RPR1A_HUMAN;.	K	229;229;193;229	.	ENSP00000314602:R229K	R	-	2	0	RPRD1A	31860964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.734000	0.84928	2.583000	0.87209	0.650000	0.86243	AGA	RPRD1A	-	NULL	ENSG00000141425		0.393	RPRD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1A	HGNC	protein_coding	OTTHUMT00000255802.1	-	0	35	0	C	NM_018170		33606966	-1	tier1	-	no_errors	ENST00000357384	ensembl	human	known	74_37	missense	15.22	39	7	SNP	1.000	T	T	33606966	C	T	33606966	3	4	26	1	0	0	0	0	1	0	0	0	13660	913	32	3	260	3	RPRD1A	18	33606966	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	558272	33606966	44470282	293	6845											
WDR7	23335	genome.wustl.edu	37	chr18	54363617	54363617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataatttgggacatattttCtggagaaatgaaacatatct	15	14	7	5	0	2	2	0	1	2	1	2	4	2	3	0	2	1	0	0	2	5	6	rs150975555		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr18:54363617C>G	ENST00000254442.3	+	12	1713	c.1502C>G	c.(1501-1503)tCt>tGt	p.S501C	WDR7_ENST00000357574.3_Missense_Mutation_p.S501C|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	501					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GACATATTTTCTGGAGAAATG	0.358																																																	0													139	132	135					18																	54363617		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1502C>G	18.37:g.54363617C>G	ENSP00000254442:p.Ser501Cys		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S501C	ENST00000254442.3	37	c.1502	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752084	0.89753	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.06068	3.35;3.35	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.053050	0.85682	D	0.000000	T	0.22244	0.0536	L	0.53249	1.67	0.80722	D	1	D;D	0.69078	0.996;0.997	D;P	0.64877	0.93;0.707	T	0.00005	-1.2540	10	0.87932	D	0	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	501;501	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	C	501	ENSP00000254442:S501C;ENSP00000350187:S501C	ENSP00000254442:S501C	S	+	2	0	WDR7	52514615	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.854000	0.69503	2.861000	0.98227	0.655000	0.94253	TCT	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000091157		0.358	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0	65	0	C			54363617	1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	50.60	41	42	SNP	1.000	G	G	54363617	C	G	54363617	3	3	26	1	0	0	0	0	1	0	0	0	17369	913	32	5	1544	5	WDR7	18	54363617	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	20756651	54363617	23713631	294	6846											
PHLPP1	23239	genome.wustl.edu	37	chr18	60646373	60646373	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgggaccattgggcgccgGagggccaatggctctgttgc	5	9	17	10	2	1	0	0	0	1	0	1	2	1	2	3	5	1	3	3	5	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr18:60646373G>T	ENST00000262719.5	+	17	5097	c.4863G>T	c.(4861-4863)cgG>cgT	p.R1621R	PHLPP1_ENST00000400316.4_Silent_p.R1109R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1621					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTGGGCGCCGGAGGGCCAATG	0.597																																																	0													30	33	32					18																	60646373		1968	4149	6117	SO:0001819	synonymous_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4863G>T	18.37:g.60646373G>T			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.R1621	ENST00000262719.5	37	c.4863	CCDS45881.2	18																																																																																			PHLPP1	-	NULL	ENSG00000081913		0.597	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	-	0	32	0	G	NM_194449		60646373	1	tier1	-	no_errors	ENST00000262719	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.997	T	T	60646373	G	T	60646373	2	4	26	1	0	0	0	0	0	0	0	1	11893	1161	41	3		3	PHLPP1	18	60646373	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	6282756	60646373	17430875	295	6847											
DSEL	92126	genome.wustl.edu	37	chr18	65180716	65180716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactccacctttgggcagttGaaggaaccatcggtccatct	9	11	9	12	1	1	1	0	1	1	0	4	2	3	2	4	3	2	2	4	3	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr18:65180716G>A	ENST00000310045.7	-	2	2633	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	377					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTGGGCAGTTGAAGGAACCAT	0.438																																																	0													118	107	111					18																	65180716		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1160C>T	18.37:g.65180716G>A	ENSP00000310565:p.Ser387Leu		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.S387L	ENST00000310045.7	37	c.1160	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474219	0.84640	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25749	1.78	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	T	0.53286	0.1787	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.50250	-0.8850	10	0.42905	T	0.14	-11.8847	19.3189	0.94229	0.0:0.0:1.0:0.0	.	377	Q8IZU8	DSEL_HUMAN	L	387;377	ENSP00000310565:S387L	ENSP00000310565:S387L	S	-	2	0	DSEL	63331696	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.628000	0.98415	2.577000	0.86979	0.563000	0.77884	TCA	DSEL	-	NULL	ENSG00000171451		0.438	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	82	0	G	NM_032160		65180716	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	A	A	65180716	G	A	65180716	3	1	26	1	0	0	0	0	1	0	0	0	4789	1294	45	3	2512	3	DSEL	18	65180716	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	4534343	65180716	12896532	296	6848											
TMX3	54495	genome.wustl.edu	37	chr18	66381131	66381133	+	In_Frame_Del	DEL	ACA	ACA	-																															tacagacgaccatatcaagtAcaacaactgaaaaaaaaaga																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr18:66381131_66381133delACA	ENST00000299608.2	-	2	367_369	c.51_53delTGT	c.(49-54)gttgta>gta	p.17_18VV>V	TMX3_ENST00000443099.2_In_Frame_Del_p.17_18VV>V|TMX3_ENST00000562706.1_In_Frame_Del_p.17_18VV>V	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	17					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CATATCAAGTACAACAACTGAAA	0.296																																																	0																																										SO:0001651	inframe_deletion	0			BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"Protein disulfide isomerases"	24718	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 13"		"thioredoxin domain containing 10"	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.51_53delTGT	18.37:g.66381134_66381136delACA	ENSP00000299608:p.Val18del		B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	In_Frame_Del	DEL	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.V18in_frame_del	ENST00000299608.2	37	c.53_51	CCDS32840.1	18																																																																																			TMX3	-	superfamily_Thioredoxin-like_fold	ENSG00000166479		0.296	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TMX3	HGNC	protein_coding	OTTHUMT00000420155.1		0	44	0	ACA	NM_019022		66381133	-1	tier1		no_errors	ENST00000299608	ensembl	human	known	74_37	in_frame_del	57.14	12	16	DEL	0.860:0.725:0.720	-	-	66381133	ACA	-	66381131	7	5	26	1	0	1	0	1	0	0	0	0	16315	391	14	0	1371	0	TMX3	18	66381131	In_Frame_Del	DEL	ACA	TCGA-IG-A5B8-01A-11D-A28B-09	1200415	66381131	11696117	297	6849											
SEMA6B	10501	genome.wustl.edu	37	chr19	4548164	4548164	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccgctgccctgtctcGccaccgccgggccgtccaca	5	5	11	20	5	1	0	0	0	1	0	3	0	2	0	7	1	3	2	7	1	0	0	rs543932524		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:4548164G>T	ENST00000586582.1	-	14	1786	c.1476C>A	c.(1474-1476)ggC>ggA	p.G492G	SEMA6B_ENST00000301293.3_Silent_p.G492G|SEMA6B_ENST00000586965.1_Silent_p.G492G|RN7SL121P_ENST00000584223.1_RNA	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	492	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTGTCTCGCCACCGCCGG	0.697																																																	0													14	15	15					19																	4548164		2184	4281	6465	SO:0001819	synonymous_variant	0			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1476C>A	19.37:g.4548164G>T			A5PKU4|F6IB19|Q9NRK9	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.G492	ENST00000586582.1	37	c.1476	CCDS12131.1	19																																																																																			SEMA6B	-	superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000167680		0.697	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2		0	45	0	G	NM_032108		4548164	-1			no_errors	ENST00000301293	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.783	T	T	4548164	G	T	4548164	2	4	26	1	0	0	0	0	0	0	0	1	14085	1074	38	2		2	SEMA6B	19	4548164	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		4548164	54580819	298	6850											
ALKBH7	84266	genome.wustl.edu	37	chr19	6374962	6374962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catggggccaggggagtctgGacagccgcccccagcctgct	6	5	15	15	1	1	0	0	0	1	0	1	2	1	2	5	5	3	1	5	5	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:6374962G>C	ENST00000245812.3	+	4	1032	c.644G>C	c.(643-645)gGa>gCa	p.G215A	ALKBH7_ENST00000599849.1_Missense_Mutation_p.G154A|ALKBH7_ENST00000596657.1_Missense_Mutation_p.G73A	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	215					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGGGAGTCTGGACAGCCGCCC	0.612																																																	0													28	32	30					19																	6374962		2203	4299	6502	SO:0001583	missense	0			AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"Alkylation repair homologs"	21306	protein-coding gene	gene with protein product		613305	"spermatogenesis associated 11"	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.644G>C	19.37:g.6374962G>C	ENSP00000245812:p.Gly215Ala		B2R4U9|Q53FF3	Missense_Mutation	SNP	NULL	p.G215A	ENST00000245812.3	37	c.644	CCDS12163.1	19	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434243	0.12045	.	.	ENSG00000125652	ENST00000245812	T	0.40756	1.02	3.12	-0.328	0.12690	.	0.451423	0.18961	N	0.126412	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19647	-1.0299	10	0.09843	T	0.71	.	3.9634	0.09421	0.2511:0.3933:0.3556:0.0	.	215	Q9BT30	ALKB7_HUMAN	A	215	ENSP00000245812:G215A	ENSP00000245812:G215A	G	+	2	0	ALKBH7	6325962	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.238000	0.08977	0.025000	0.15241	-0.519000	0.04390	GGA	ALKBH7	-	NULL	ENSG00000125652		0.612	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH7	HGNC	protein_coding	OTTHUMT00000453036.1	-	0	76	0	G	NM_032306		6374962	1	tier1	-	no_errors	ENST00000245812	ensembl	human	known	74_37	missense	16.67	44	9	SNP	0.000	C	C	6374962	G	C	6374962	3	2	26	1	0	0	0	0	1	0	0	0	532	1174	41	5	658	5	ALKBH7	19	6374962	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1826798	6374962	52754021	299	6851											
MUC16	94025	genome.wustl.edu	37	chr19	9010665	9010665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacttgtggggctggggaggGaggatggagtccctgaggtc	6	9	20	6	0	0	1	0	1	0	0	2	5	1	5	1	8	1	1	1	8	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:9010665G>A	ENST00000397910.4	-	38	39199	c.38996C>T	c.(38995-38997)tCc>tTc	p.S12999F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13001					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S12999F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGGGGAGGGAGGATGGAGT	0.493																																																	1	Substitution - Missense(1)	skin(1)											84	77	79					19																	9010665		1926	4126	6052	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38996C>T	19.37:g.9010665G>A	ENSP00000381008:p.Ser12999Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S12999F	ENST00000397910.4	37	c.38996	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	4.090	0.014668	0.07959	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.02103	4.45	1.16	-2.32	0.06745	.	.	.	.	.	T	0.03178	0.0093	M	0.75447	2.3	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.35450	-0.9788	8	0.87932	D	0	.	2.8744	0.05627	0.2139:0.0:0.4397:0.3464	.	12999	B5ME49	.	F	12999;152	ENSP00000381008:S12999F	ENSP00000381008:S12999F	S	-	2	0	MUC16	8871665	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.531000	0.02219	-1.660000	0.01486	-0.727000	0.03589	TCC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	83	0	G	NM_024690		9010665	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.000	A	A	9010665	G	A	9010665	3	1	26	1	0	0	0	0	1	0	0	0	10011	1174	41	3	4715	3	MUC16	19	9010665	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2635703	9010665	50118318	300	6852											
MUC16	94025	genome.wustl.edu	37	chr19	9089301	9089301	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagacacttgggaggctGagagtgctaggactctctga	10	8	14	9	0	1	3	0	2	1	2	2	7	1	5	1	3	1	2	1	3	1	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:9089301G>A	ENST00000397910.4	-	1	2717	c.2514C>T	c.(2512-2514)ctC>ctT	p.L838L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	838	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L838L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGGAGGCTGAGAGTGCTAG	0.473																																																	2	Substitution - coding silent(2)	lung(2)											165	157	160					19																	9089301		1990	4172	6162	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2514C>T	19.37:g.9089301G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L838	ENST00000397910.4	37	c.2514	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	85	0	G	NM_024690		9089301	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	27.85	57	22	SNP	0.000	A	A	9089301	G	A	9089301	2	1	26	1	0	0	0	0	0	0	0	1	10011	1277	45	3		3	MUC16	19	9089301	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	78636	9089301	50039682	301	6853											
OLFM2	93145	genome.wustl.edu	37	chr19	9971454	9971454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctgccagccctcttctGggttctggaagagagtctgc	7	10	12	12	0	4	1	0	0	4	1	4	3	4	2	2	2	4	2	2	2	1	2	rs375695569		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:9971454G>A	ENST00000264833.4	-	2	265	c.80C>T	c.(79-81)cCa>cTa	p.P27L	OLFM2_ENST00000590841.1_5'Flank	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	27					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCCCTCTTCTGGGTTCTGGAA	0.627																																																	0													23	23	23					19																	9971454		2203	4300	6503	SO:0001583	missense	0			AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"noelin 2"						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.80C>T	19.37:g.9971454G>A	ENSP00000264833:p.Pro27Leu		Q6IMJ3|Q96FC2	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.P27L	ENST00000264833.4	37	c.80	CCDS12221.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716477	0.89205	.	.	ENSG00000105088	ENST00000264833	T	0.48201	0.82	4.86	4.86	0.63082	.	0.077797	0.51477	N	0.000087	T	0.65471	0.2694	M	0.65975	2.015	0.80722	D	1	D	0.67145	0.996	D	0.70016	0.967	T	0.65228	-0.6219	9	.	.	.	.	15.5385	0.76021	0.0:0.0:1.0:0.0	.	27	O95897	NOE2_HUMAN	L	27	ENSP00000264833:P27L	.	P	-	2	0	OLFM2	9832454	1.000000	0.71417	0.979000	0.43373	0.910000	0.53928	7.475000	0.81041	2.528000	0.85240	0.655000	0.94253	CCA	OLFM2	-	pfam_Noelin-1	ENSG00000105088		0.627	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM2	HGNC	protein_coding	OTTHUMT00000451119.1		0	37	0	G			9971454	-1			no_errors	ENST00000264833	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	9971454	G	A	9971454	3	1	26	1	0	0	0	0	1	0	0	0	10892	1348	47	3	1304	3	OLFM2	19	9971454	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	882153	9971454	49157529	302	6854											
ANGPTL6	83854	genome.wustl.edu	37	chr19	10204497	10204497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacggcccactcgcagttCatacactccactctgttcat	8	11	7	15	2	3	1	2	1	1	0	5	1	4	1	2	1	1	3	2	1	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:10204497C>T	ENST00000253109.4	-	4	1061	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ANGPTL6_ENST00000589181.1_Missense_Mutation_p.E275K|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.E275K	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	275	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			ACTCGCAGTTCATACACTCCA	0.612																																																	0													172	155	160					19																	10204497		2203	4300	6503	SO:0001583	missense	0			AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"Fibrinogen C domain containing"	23140	protein-coding gene	gene with protein product	"angiopoietin-related protein 5"	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.823G>A	19.37:g.10204497C>T	ENSP00000253109:p.Glu275Lys		A5PKV7|Q9BZZ0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.E275K	ENST00000253109.4	37	c.823	CCDS12224.1	19	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383483	0.42207	.	.	ENSG00000130812	ENST00000253109	T	0.80653	-1.4	4.57	2.25	0.28309	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.384136	0.24409	N	0.038763	T	0.48259	0.1490	N	0.01809	-0.71	0.25943	N	0.98284	P	0.34864	0.473	B	0.34931	0.192	T	0.45160	-0.9280	10	0.13470	T	0.59	.	3.2429	0.06787	0.1582:0.4014:0.3428:0.0976	.	275	Q8NI99	ANGL6_HUMAN	K	275	ENSP00000253109:E275K	ENSP00000253109:E275K	E	-	1	0	ANGPTL6	10065497	0.963000	0.33076	0.631000	0.29282	0.566000	0.35808	2.048000	0.41278	1.124000	0.41980	0.485000	0.47835	GAA	ANGPTL6	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000130812		0.612	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL6	HGNC	protein_coding	OTTHUMT00000451142.1	-	0	57	0	C	NM_031917		10204497	-1	tier1	-	no_errors	ENST00000253109	ensembl	human	known	74_37	missense	27.14	51	19	SNP	0.998	T	T	10204497	C	T	10204497	3	4	26	1	0	0	0	0	1	0	0	0	618	835	29	3	601	3	ANGPTL6	19	10204497	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	233043	10204497	48924486	303	6855											
ICAM1	3383	genome.wustl.edu	37	chr19	10395227	10395227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagggcccagctcctgctGaaggccaccccagaggacaa	10	3	12	16	1	0	2	0	1	0	1	1	4	1	3	6	3	2	2	6	3	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:10395227G>A	ENST00000264832.3	+	5	1399	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	ICAM1_ENST00000423829.2_Silent_p.L136L|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	358	Ig-like C2-type 4.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGCTCCTGCTGAAGGCCACCC	0.647																																																	0													39	47	44					19																	10395227		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5344	protein-coding gene	gene with protein product	"human rhinovirus receptor"	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1074G>A	19.37:g.10395227G>A			B2R6M3|Q5NKV7|Q96B50	Silent	SNP	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.L358	ENST00000264832.3	37	c.1074	CCDS12231.1	19																																																																																			ICAM1	-	smart_Ig_sub	ENSG00000090339		0.647	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	HGNC	protein_coding	OTTHUMT00000451207.1	-	0	36	0	G			10395227	1	tier1	-	no_errors	ENST00000264832	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.059	A	A	10395227	G	A	10395227	2	1	26	1	0	0	0	0	0	0	0	1	7506	1277	45	3		3	ICAM1	19	10395227	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	190730	10395227	48733756	304	6856											
IER2	9592	genome.wustl.edu	37	chr19	13264138	13264138	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcgcagcgcccgggagctCtacctctcggccaaggtgga	7	6	14	14	4	2	0	0	0	2	0	3	2	2	2	3	4	4	2	3	4	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:13264138C>G	ENST00000588173.1	+	1	1350	c.138C>G	c.(136-138)ctC>ctG	p.L46L	STX10_ENST00000343587.5_5'Flank|IER2_ENST00000587885.1_Silent_p.L46L|CTC-250I14.6_ENST00000586483.1_RNA|IER2_ENST00000292433.3_Silent_p.L46L|CTC-250I14.6_ENST00000592882.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	46						cytoplasm (GO:0005737)				kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCCGGGAGCTCTACCTCTCGG	0.697											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14	15	15					19																	13264138		2198	4296	6494	SO:0001819	synonymous_variant	0			M62831	CCDS12295.1	19p13.13	2008-02-05				ENSG00000160888			28871	protein-coding gene	gene with protein product						2061303	Standard	NM_004907		Approved	ETR101	uc002mwr.3	Q9BTL4		ENST00000588173.1:c.138C>G	19.37:g.13264138C>G		686	Q03827|Q2TAZ2	Silent	SNP	pfam_IER	p.L46	ENST00000588173.1	37	c.138	CCDS12295.1	19																																																																																			IER2	-	pfam_IER	ENSG00000160888		0.697	IER2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IER2	HGNC	protein_coding	OTTHUMT00000453033.1	-	0	60	0	C	NM_004907		13264138	1	tier1	-	no_errors	ENST00000292433	ensembl	human	known	74_37	silent	19.70	53	13	SNP	1.000	G	G	13264138	C	G	13264138	2	3	26	1	0	0	0	0	0	0	0	1	7532	900	32	5		5	IER2	19	13264138	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2868911	13264138	45864845	305	6857											
TECR	9524	genome.wustl.edu	37	chr19	14675792	14675792	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaggtgaaactggcgctCgccatctttgtggtaaggag	9	9	14	9	2	1	1	0	1	1	0	2	2	1	2	1	4	2	3	1	4	2	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:14675792C>T	ENST00000215567.5	+	9	731	c.594C>T	c.(592-594)ctC>ctT	p.L198L	TECR_ENST00000600083.1_Silent_p.L43L|TECR_ENST00000596073.1_Silent_p.L43L|TECR_ENST00000436007.2_Silent_p.L213L	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	198					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						AACTGGCGCTCGCCATCTTTG	0.662																																																	0													49	55	53					19																	14675792		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"glycoprotein, synaptic 2"	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.594C>T	19.37:g.14675792C>T			B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.L213	ENST00000215567.5	37	c.639	CCDS12313.1	19																																																																																			TECR	-	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	ENSG00000099797		0.662	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECR	HGNC	protein_coding	OTTHUMT00000466000.1	-	0	66	0	C	NM_138501		14675792	1	tier1	-	no_errors	ENST00000436007	ensembl	human	known	74_37	silent	22.92	37	11	SNP	0.357	T	T	14675792	C	T	14675792	2	4	26	1	0	0	0	0	0	0	0	1	15792	871	31	1		1	TECR	19	14675792	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1411654	14675792	44453191	306	6858											
TPM4	7171	genome.wustl.edu	37	chr19	16178531	16178531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcggataagaaagccgctGaggacaagtgcaagcaggtg	14	4	16	7	2	0	2	0	1	0	1	0	4	0	4	1	4	3	3	1	4	4	1	rs368923322		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:16178531G>A	ENST00000344824.6	+	1	215	c.97G>A	c.(97-99)Gag>Aag	p.E33K	TPM4_ENST00000538887.1_Missense_Mutation_p.E33K|CTD-2231E14.4_ENST00000585520.1_lincRNA	NM_001145160.1	NP_001138632.1	P67936	TPM4_HUMAN	tropomyosin 4	151					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAAAGCCGCTGAGGACAAGTG	0.632			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0									LYS/GLU	1,3135		0,1,1567	78	76	76		97	2.4	0.8	19		76	0,7164		0,0,3582	no	missense	TPM4	NM_001145160.1	56	0,1,5149	AA,AG,GG		0.0,0.0319,0.0097	benign	33/285	16178531	1,10299	1568	3582	5150	SO:0001583	missense	0				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000344824.6:c.97G>A	19.37:g.16178531G>A	ENSP00000345230:p.Glu33Lys		P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E33K	ENST00000344824.6	37	c.97	CCDS46007.1	19	.	.	.	.	.	.	.	.	.	.	g	21.1	4.100491	0.76983	3.19E-4	0.0	ENSG00000167460	ENST00000344824;ENST00000538887	D;D	0.90844	-2.74;-2.74	3.45	2.36	0.29203	.	0.000000	0.31554	U	0.007448	D	0.90331	0.6975	.	.	.	0.44694	D	0.997683	P	0.44690	0.841	P	0.47573	0.55	D	0.89512	0.3772	9	0.72032	D	0.01	-13.574	10.5227	0.44929	0.0988:0.0:0.9012:0.0	.	33	P67936-2	.	K	33	ENSP00000345230:E33K;ENSP00000439135:E33K	ENSP00000345230:E33K	E	+	1	0	TPM4	16039531	1.000000	0.71417	0.777000	0.31699	0.729000	0.41735	7.290000	0.78711	0.766000	0.33244	0.450000	0.29827	GAG	TPM4	-	NULL	ENSG00000167460		0.632	TPM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459672.2	-	0	41	0	G	NM_003290		16178531	1	tier1	-	no_errors	ENST00000344824	ensembl	human	known	74_37	missense	11.67	53	7	SNP	0.996	A	A	16178531	G	A	16178531	3	1	26	1	0	0	0	0	1	0	0	0	16456	1291	45	3	99	3	TPM4	19	16178531	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1502739	16178531	42950452	307	6859											
PDE4C	5143	genome.wustl.edu	37	chr19	18324249	18324249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggtctccaccatggTcttgaggtcggccaggaggt	5	12	13	11	1	3	1	0	1	3	0	5	2	3	2	3	6	0	0	3	6	0	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:18324249T>C	ENST00000355502.3	-	17	2408	c.1537A>G	c.(1537-1539)Acc>Gcc	p.T513A	PDE4C_ENST00000594465.3_Missense_Mutation_p.T513A|PDE4C_ENST00000597297.1_Missense_Mutation_p.T283A|PDE4C_ENST00000447275.3_Missense_Mutation_p.T407A|PDE4C_ENST00000598111.2_Missense_Mutation_p.T228A|PDE4C_ENST00000262805.12_Missense_Mutation_p.T481A|PDE4C_ENST00000539010.1_Missense_Mutation_p.T282A|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000594617.3_Missense_Mutation_p.T513A			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	513					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCCACCATGGTCTTGAGGTCG	0.612																																																	0													151	119	130					19																	18324249		2203	4300	6503	SO:0001583	missense	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.1537A>G	19.37:g.18324249T>C	ENSP00000347689:p.Thr513Ala		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.T513A	ENST00000355502.3	37	c.1537	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561592	0.65538	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	4.63	4.63	0.57726	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	L	0.49640	1.575	0.43230	D	0.995122	D;D;B;D	0.76494	0.992;0.997;0.106;0.999	D;D;B;D	0.91635	0.989;0.938;0.209;0.999	D	0.88637	0.3173	10	0.87932	D	0	.	12.0009	0.53230	0.0:0.0:0.0:1.0	.	513;481;319;228	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	A	592;513;501;481;407;319;227;282;622	ENSP00000347689:T513A;ENSP00000262805:T481A;ENSP00000402091:T407A;ENSP00000439470:T282A	ENSP00000262805:T481A	T	-	1	0	PDE4C	18185249	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.745000	0.85046	1.732000	0.51606	0.454000	0.30748	ACC	PDE4C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000105650		0.612	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	-	0	110	0	T			18324249	-1	tier1	-	no_errors	ENST00000355502	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	C	C	18324249	T	C	18324249	3	2	26	1	0	0	0	0	1	0	0	0	11680	1667	58	4	613	4	PDE4C	19	18324249	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	2145718	18324249	40804734	308	6860											
ZNF101	94039	genome.wustl.edu	37	chr19	19790859	19790859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caattatcccagttgttttcGaagacataaaaaaactcata	17	12	4	8	1	1	1	1	0	0	1	3	2	2	1	1	0	1	2	1	0	8	6			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:19790859G>A	ENST00000592502.1	+	4	1171	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	ZNF101_ENST00000415784.2_Missense_Mutation_p.R234Q			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGTTGTTTTCGAAGACATAAA	0.408																																																	0													64	65	64					19																	19790859		2203	4300	6503	SO:0001583	missense	0			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"Zinc fingers, C2H2-type", "-"	12881	protein-coding gene	gene with protein product		603983	"zinc finger protein 101 (Y2)"			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1061G>A	19.37:g.19790859G>A	ENSP00000468049:p.Arg354Gln		C9JU83|Q0VDG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R354Q	ENST00000592502.1	37	c.1061	CCDS32971.1	19	.	.	.	.	.	.	.	.	.	.	G	9.495	1.101820	0.20632	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.20598	2.06;2.06	0.235	0.235	0.15431	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09598	0.0236	N	0.26042	0.785	0.09310	N	1	P	0.43519	0.809	B	0.29353	0.101	T	0.23583	-1.0184	7	.	.	.	.	.	.	.	.	354	Q8IZC7	ZN101_HUMAN	Q	354;354;234	ENSP00000319716:R354Q;ENSP00000400952:R234Q	.	R	+	2	0	ZNF101	19651859	0.000000	0.05858	0.803000	0.32268	0.802000	0.45316	0.053000	0.14184	0.308000	0.22923	0.313000	0.20887	CGA	ZNF101	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181896		0.408	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	-	0	33	0	G	NM_033204		19790859	1	tier1	-	no_errors	ENST00000318110	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.003	A	A	19790859	G	A	19790859	3	1	26	1	0	0	0	0	1	0	0	0	17762	1058	37	1	1075	1	ZNF101	19	19790859	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1466610	19790859	39338124	309	6861											
ZNF540	163255	genome.wustl.edu	37	chr19	38104049	38104049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagacttaattcacaccttaCtgaacatcagagaattcaca	16	11	4	10	0	3	3	3	1	0	2	3	4	3	3	1	0	2	0	1	0	5	5			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:38104049C>G	ENST00000592533.1	+	5	2200	c.1868C>G	c.(1867-1869)aCt>aGt	p.T623S	ZNF540_ENST00000589117.1_Missense_Mutation_p.T591S|ZNF540_ENST00000343599.5_Missense_Mutation_p.T623S|ZNF540_ENST00000316433.4_Missense_Mutation_p.T623S	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	623					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACCTTACTGAACATCAG	0.373																																																	0													43	44	44					19																	38104049		2202	4300	6502	SO:0001583	missense	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1868C>G	19.37:g.38104049C>G	ENSP00000466274:p.Thr623Ser		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T623S	ENST00000592533.1	37	c.1868	CCDS12506.1	19	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855075	0.32791	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.35973	1.28	2.8	-1.25	0.09405	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15998	0.0385	N	0.10809	0.05	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.16289	0.009;0.015	T	0.19844	-1.0293	9	0.46703	T	0.11	.	2.4346	0.04479	0.3794:0.2684:0.0:0.3522	.	591;623	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	S	623;591	ENSP00000324598:T623S	ENSP00000324598:T623S	T	+	2	0	ZNF540	42795889	0.000000	0.05858	0.002000	0.10522	0.881000	0.50899	-5.563000	0.00113	-0.152000	0.11156	0.305000	0.20034	ACT	ZNF540	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171817		0.373	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0	39	0	C	NM_152606		38104049	1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	missense	28.89	32	13	SNP	0.000	G	G	38104049	C	G	38104049	3	3	26	1	0	0	0	0	1	0	0	0	18023	565	20	5	1882	5	ZNF540	19	38104049	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	18313190	38104049	21024934	310	6862											
ACTN4	81	genome.wustl.edu	37	chr19	39208683	39208683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcagagaagttccggcaGaaggcctccatccacgaggc	10	5	13	13	2	0	2	0	0	0	2	3	4	3	2	4	4	0	3	4	4	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:39208683G>A	ENST00000252699.2	+	11	1336	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ACTN4_ENST00000390009.3_Silent_p.Q201Q|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	420					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGTTCCGGCAGAAGGCCTCCA	0.662																																					Colon(168;199 1940 10254 46213 46384)												0													52	37	42					19																	39208683		2203	4298	6501	SO:0001819	synonymous_variant	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1260G>A	19.37:g.39208683G>A			A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q420	ENST00000252699.2	37	c.1260	CCDS12518.1	19																																																																																			ACTN4	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000130402		0.662	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	-	0	63	0	G			39208683	1	tier1	-	no_errors	ENST00000252699	ensembl	human	known	74_37	silent	27.50	58	22	SNP	1.000	A	A	39208683	G	A	39208683	2	1	26	1	0	0	0	0	0	0	0	1	207	933	33	3		3	ACTN4	19	39208683	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	1104634	39208683	19920300	311	6863											
DYRK1B	9149	genome.wustl.edu	37	chr19	40320544	40320544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtacttcatctccgtgtCatgctggttcatcagctcca	8	14	7	12	1	5	0	4	0	1	0	7	0	6	0	2	1	3	4	2	1	2	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:40320544C>A	ENST00000593685.1	-	5	964	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	DYRK1B_ENST00000323039.5_Missense_Mutation_p.D166Y|DYRK1B_ENST00000348817.3_Missense_Mutation_p.D166Y|DYRK1B_ENST00000597639.1_Missense_Mutation_p.D166Y|DYRK1B_ENST00000430012.2_Missense_Mutation_p.D166Y			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ATCTCCGTGTCATGCTGGTTC	0.572																																																	0													73	54	60					19																	40320544		2203	4300	6503	SO:0001583	missense	0			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.496G>T	19.37:g.40320544C>A	ENSP00000469863:p.Asp166Tyr		O75258|O75788|O75789	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D166Y	ENST00000593685.1	37	c.496	CCDS12543.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257169	0.80246	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.66638	-0.22;-0.22;-0.22	4.3	4.3	0.51218	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.116139	0.56097	D	0.000032	D	0.82848	0.5126	M	0.87547	2.89	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.976;0.962;0.981	D	0.86381	0.1729	10	0.87932	D	0	.	14.313	0.66429	0.0:1.0:0.0:0.0	.	166;166;166	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	Y	166	ENSP00000312789:D166Y;ENSP00000221803:D166Y;ENSP00000403182:D166Y	ENSP00000312789:D166Y	D	-	1	0	DYRK1B	45012384	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.651000	0.83577	2.236000	0.73375	0.561000	0.74099	GAC	DYRK1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105204		0.572	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2	-	0	63	0	C	NM_004714		40320544	-1	tier1	-	no_errors	ENST00000323039	ensembl	human	known	74_37	missense	16.90	59	12	SNP	1.000	A	A	40320544	C	A	40320544	3	1	26	1	0	0	0	0	1	0	0	0	4869	826	29	3	1421	3	DYRK1B	19	40320544	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1111861	40320544	18808439	312	6864											
CEACAM6	4680	genome.wustl.edu	37	chr19	42265341	42265341	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatgaccctcactctactCagcgtcaaaaggaacgatgc	14	7	7	13	2	4	1	3	1	1	0	4	3	4	2	1	1	5	0	1	1	5	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:42265341C>G	ENST00000199764.6	+	3	827	c.609C>G	c.(607-609)ctC>ctG	p.L203L	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	203	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TCACTCTACTCAGCGTCAAAA	0.532																																																	0													229	210	217					19																	42265341		2203	4300	6503	SO:0001819	synonymous_variant	0			M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.609C>G	19.37:g.42265341C>G			Q13774|Q14920|Q53XP7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L203	ENST00000199764.6	37	c.609	CCDS12585.1	19																																																																																			CEACAM6	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000086548		0.532	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM6	HGNC	protein_coding	OTTHUMT00000321147.1	-	0	161	0	C			42265341	1	tier1	-	no_errors	ENST00000199764	ensembl	human	known	74_37	silent	26.94	179	66	SNP	0.423	G	G	42265341	C	G	42265341	2	3	26	1	0	0	0	0	0	0	0	1	3203	813	29	5		5	CEACAM6	19	42265341	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1944797	42265341	16863642	313	6865											
SNRPD2	6633	genome.wustl.edu	37	chr19	46190949	46190949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggtacctcagtccaCatctccttcacgttctccag	6	13	6	16	1	5	0	2	0	3	0	8	0	6	0	4	1	1	2	4	1	1	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:46190949C>T	ENST00000342669.3	-	3	663	c.219G>A	c.(217-219)atG>atA	p.M73I	SNRPD2_ENST00000585392.1_Missense_Mutation_p.M9I|SNRPD2_ENST00000588301.1_Missense_Mutation_p.M73I|SNRPD2_ENST00000391932.3_Missense_Mutation_p.M63I|SNRPD2_ENST00000587367.1_Missense_Mutation_p.M63I|SNRPD2_ENST00000588599.1_Missense_Mutation_p.M63I|SNRPD2_ENST00000590212.1_3'UTR	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	73					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CCTCAGTCCACATCTCCTTCA	0.592																																																	0													141	108	119					19																	46190949		2203	4300	6503	SO:0001583	missense	0				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.219G>A	19.37:g.46190949C>T	ENSP00000342374:p.Met73Ile		A8K797|J3KPM5|P43330	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.M73I	ENST00000342669.3	37	c.219	CCDS33053.1	19	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297939	0.60086	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	T;T	0.39787	1.06;1.06	5.82	5.82	0.92795	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	L	0.31664	0.95	0.80722	D	1	B	0.24768	0.111	B	0.19391	0.025	T	0.05146	-1.0903	10	0.31617	T	0.26	.	17.587	0.87984	0.0:1.0:0.0:0.0	.	73	P62316	SMD2_HUMAN	I	73;63	ENSP00000342374:M73I;ENSP00000375798:M63I	ENSP00000342374:M73I	M	-	3	0	SNRPD2	50882789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.146000	0.77373	2.745000	0.94114	0.655000	0.94253	ATG	SNRPD2	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000125743		0.592	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	-	0	96	0	C	NM_004597		46190949	-1	tier1	-	no_errors	ENST00000342669	ensembl	human	known	74_37	missense	22.55	79	23	SNP	1.000	T	T	46190949	C	T	46190949	3	4	26	1	0	0	0	0	1	0	0	0	14910	478	17	3	141	3	SNRPD2	19	46190949	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3925608	46190949	12938034	314	6866											
CALM3	808	genome.wustl.edu	37	chr19	47111561	47111561	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaaccccactgaagcaGagctgcaggatatgatcaat	15	6	10	10	0	1	4	1	2	0	2	1	6	1	5	2	1	4	3	2	1	4	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:47111561G>T	ENST00000291295.9	+	3	341	c.142G>T	c.(142-144)Gag>Tag	p.E48*	CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_Nonsense_Mutation_p.E12*|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000596362.1_Nonsense_Mutation_p.E48*|CALM3_ENST00000598871.1_Nonsense_Mutation_p.E12*|CALM3_ENST00000597743.1_Nonsense_Mutation_p.E48*|CALM3_ENST00000594523.1_Nonsense_Mutation_p.E12*|CALM3_ENST00000391918.2_Nonsense_Mutation_p.E12*	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	48	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	CACTGAAGCAGAGCTGCAGGA	0.587																																																	0													99	86	90					19																	47111561		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"EF-hand domain containing", "Endogenous ligands"	1449	protein-coding gene	gene with protein product	"prepro-calmodulin 3"	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.142G>T	19.37:g.47111561G>T	ENSP00000291295:p.Glu48*		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Nonsense_Mutation	SNP	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E48*	ENST00000291295.9	37	c.142	CCDS33061.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.403021	0.97537	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	.	.	.	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-36.8039	16.2303	0.82332	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000291295:E48X	E	+	1	0	CALM3	51803401	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	9.657000	0.98554	2.688000	0.91661	0.655000	0.94253	GAG	CALM3	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000160014		0.587	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALM3	HGNC	protein_coding	OTTHUMT00000257483.2	-	0	32	0	G			47111561	1	tier1	-	no_errors	ENST00000291295	ensembl	human	known	74_37	nonsense	15.38	33	6	SNP	1.000	T	T	47111561	G	T	47111561	4	4	26	1	0	0	0	0	0	1	0	0	2593	943	33	3	152	3	CALM3	19	47111561	Nonsense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	920612	47111561	12017422	315	6867											
GPR77	27202	genome.wustl.edu	37	chr19	47844098	47844098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgagtatggggattacagCgacctctcggaccgccctgt	8	9	12	12	4	1	0	0	0	1	0	2	4	1	2	3	3	3	1	3	3	3	3	rs138403580	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:47844098C>T	ENST00000595464.1	+	2	260	c.42C>T	c.(40-42)agC>agT	p.S14S	C5AR2_ENST00000600626.1_Silent_p.S14S|C5AR2_ENST00000257267.2_Silent_p.S14S	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	14					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GGGATTACAGCGACCTCTCGG	0.612																																																	0								C		1,4405		0,1,2202	59	61	61		42	-7.1	0	19	dbSNP_134	61	0,8600		0,0,4300	no	coding-synonymous	GPR77	NM_018485.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		14/338	47844098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"GPCR / Class A : Complement component receptors"	4527	protein-coding gene	gene with protein product		609949	"G protein-coupled receptor 77"	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.42C>T	19.37:g.47844098C>T			B2RA09	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2	p.S14	ENST00000595464.1	37	c.42	CCDS12699.1	19																																																																																			C5AR2	-	NULL	ENSG00000134830		0.612	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR2	HGNC	protein_coding	OTTHUMT00000466926.1	-	0	32	0	C	NM_018485		47844098	1	tier1	rs138403580	no_errors	ENST00000257267	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.000	T	T	47844098	C	T	47844098	2	4	26	1	0	0	0	0	0	0	0	1	6735	767	27	1		1	GPR77	19	47844098	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	732537	47844098	11284885	316	6868											
PRMT1	3276	genome.wustl.edu	37	chr19	50185264	50185264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggtgctggacgtcggctCgggcaccggcatcctctgca	4	8	16	13	4	1	0	0	0	1	0	4	1	2	1	2	6	2	5	2	6	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:50185264C>T	ENST00000391851.4	+	3	365	c.236C>T	c.(235-237)tCg>tTg	p.S79L	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Missense_Mutation_p.S51L|PRMT1_ENST00000454376.2_Missense_Mutation_p.S97L	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	87	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GACGTCGGCTCGGGCACCGGC	0.637																																																	0													54	48	50					19																	50185264		2203	4300	6503	SO:0001583	missense	0			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.236C>T	19.37:g.50185264C>T	ENSP00000375724:p.Ser79Leu		B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.S97L	ENST00000391851.4	37	c.290	CCDS42592.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.03|17.03	3.284174|3.284174	0.59867|0.59867	.|.	.|.	ENSG00000126457|ENSG00000126457	ENST00000524771|ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000529836;ENST00000526224;ENST00000527412	.|T;T;T;T;T;T;T;T;T	.|0.25749	.|1.78;1.78;1.78;1.78;1.78;1.78;1.8;1.78;1.8	5.04|5.04	4.01|4.01	0.46588|0.46588	.|.	.|0.126699	.|0.49916	.|D	.|0.000135	T|T	0.47135|0.47135	0.1429|0.1429	M|M	0.86864|0.86864	2.845|2.845	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D;D;D	.|0.65815	.|0.995;0.995;0.994;0.994	.|P;P;P;P	.|0.59643	.|0.861;0.663;0.628;0.628	T|T	0.51694|0.51694	-0.8673|-0.8673	5|10	.|0.87932	.|D	.|0	-0.0644|-0.0644	7.0038|7.0038	0.24826|0.24826	0.0:0.7334:0.1747:0.0919|0.0:0.7334:0.1747:0.0919	.|.	.|87;51;79;73	.|Q99873;E9PKG1;G5E9B6;Q99873-2	.|ANM1_HUMAN;.;.;.	W|L	107|51;51;51;51;79;73;97;73;51;76	.|ENSP00000432349:S51L;ENSP00000433556:S51L;ENSP00000432538:S51L;ENSP00000431957:S51L;ENSP00000375724:S79L;ENSP00000406162:S97L;ENSP00000437273:S73L;ENSP00000432788:S51L;ENSP00000436732:S76L	.|ENSP00000375724:S79L	R|S	+|+	1|2	2|0	PRMT1|PRMT1	54877076|54877076	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.156000|0.156000	0.22039|0.22039	5.432000|5.432000	0.66514|0.66514	1.368000|1.368000	0.46115|0.46115	-0.148000|-0.148000	0.13756|0.13756	CGG|TCG	PRMT1	-	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	ENSG00000126457		0.637	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT1	HGNC	protein_coding	OTTHUMT00000395065.1	-	0	71	0	C	NM_001536		50185264	1	tier1	-	no_errors	ENST00000454376	ensembl	human	known	74_37	missense	15.79	64	12	SNP	0.996	T	T	50185264	C	T	50185264	3	4	26	1	0	0	0	0	1	0	0	0	12577	893	31	1	304	1	PRMT1	19	50185264	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2341166	50185264	8943719	317	6869											
ZNF841	284371	genome.wustl.edu	37	chr19	52568449	52568449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctccagcatgttttatctGatgtttagtgaggcctgagc	7	15	10	9	0	2	3	0	3	2	0	3	3	2	3	2	1	2	3	2	1	2	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:52568449G>C	ENST00000426391.2	-	5	2889	c.2338C>G	c.(2338-2340)Cag>Gag	p.Q780E	CTC-471J1.2_ENST00000569091.1_RNA|ZNF841_ENST00000594295.1_Missense_Mutation_p.Q896E|ZNF841_ENST00000389534.4_Missense_Mutation_p.Q896E|ZNF841_ENST00000359973.2_Missense_Mutation_p.Q472E|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	780					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGTTTTATCTGATGTTTAGTG	0.383																																																	0													246	205	217					19																	52568449		692	1591	2283	SO:0001583	missense	0			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"Zinc fingers, C2H2-type", "-"	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2338C>G	19.37:g.52568449G>C	ENSP00000415453:p.Gln780Glu		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q896E	ENST00000426391.2	37	c.2686		19	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677457	0.29783	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.08546	3.51;3.33;3.08	1.69	0.519	0.17035	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B;B;B	0.27882	0.192;0.143;0.121	B;B;B	0.20955	0.032;0.019;0.014	T	0.40365	-0.9567	9	0.62326	D	0.03	.	3.2155	0.06697	0.1609:0.0:0.5775:0.2615	.	896;472;780	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	E	896;780;472	ENSP00000374185:Q896E;ENSP00000415453:Q780E;ENSP00000353060:Q472E	ENSP00000353060:Q472E	Q	-	1	0	ZNF841	57260261	0.000000	0.05858	0.004000	0.12327	0.741000	0.42261	0.050000	0.14120	0.033000	0.15463	0.313000	0.20887	CAG	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197608		0.383	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	-	0	76	0	G	XM_209155		52568449	-1	tier1	-	no_errors	ENST00000389534	ensembl	human	known	74_37	missense	24.10	63	20	SNP	0.223	C	C	52568449	G	C	52568449	3	2	26	1	0	0	0	0	1	0	0	0	18237	1299	45	5	92	5	ZNF841	19	52568449	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	2383185	52568449	6560534	318	6870											
ZNF880	400713	genome.wustl.edu	37	chr19	52877592	52877592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgttatctccatgttggaGcaaaggagagatccccggaa	12	9	12	8	1	1	1	0	0	1	1	3	5	2	4	3	3	1	3	3	3	3	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:52877592G>A	ENST00000422689.2	+	3	195	c.180G>A	c.(178-180)gaG>gaA	p.E60E	ZNF880_ENST00000600321.1_Silent_p.E60E|ZNF880_ENST00000424032.2_Silent_p.E60E|ZNF880_ENST00000597976.1_Silent_p.E60E|ZNF880_ENST00000344085.5_Silent_p.E60E	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CCATGTTGGAGCAAAGGAGAG	0.453																																																	0													93	78	82					19																	52877592		692	1591	2283	SO:0001819	synonymous_variant	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.180G>A	19.37:g.52877592G>A			B4DNA6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E60	ENST00000422689.2	37	c.180	CCDS46164.1	19																																																																																			ZNF880	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000221923		0.453	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	47	0	G	NM_001145434		52877592	1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	silent	21.28	37	10	SNP	0.026	A	A	52877592	G	A	52877592	2	1	26	1	0	0	0	0	0	0	0	1	18245	962	34	3		3	ZNF880	19	52877592	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	309143	52877592	6251391	319	6871											
NLRP5	126206	genome.wustl.edu	37	chr19	56515193	56515193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaaggagacaaatcgctCaccttttccagctacgggct	11	9	10	11	2	1	1	1	0	0	1	3	3	2	2	2	3	2	3	2	3	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:56515193C>T	ENST00000390649.3	+	2	174	c.174C>T	c.(172-174)ctC>ctT	p.L58L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	58	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAAATCGCTCACCTTTTCCA	0.423																																																	0													120	112	115					19																	56515193		1866	4110	5976	SO:0001819	synonymous_variant	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.174C>T	19.37:g.56515193C>T			A8MTY4|Q86W29	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L58	ENST00000390649.3	37	c.174	CCDS12938.1	19																																																																																			NLRP5	-	superfamily_DEATH-like_dom	ENSG00000171487		0.423	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	-	0	45	0	C	NM_153447		56515193	1	tier1	-	no_errors	ENST00000390649	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.002	T	T	56515193	C	T	56515193	2	4	26	1	0	0	0	0	0	0	0	1	10519	813	29	3		3	NLRP5	19	56515193	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	3637601	56515193	2613790	320	6872											
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56703331	56703331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccactggctggacacgtctCtcggatcatctctgacactg	7	10	9	15	2	3	1	1	1	2	0	6	3	3	3	1	3	0	1	1	3	0	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:56703331C>G	ENST00000586855.2	-	3	789	c.476G>C	c.(475-477)aGa>aCa	p.R159T	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R159T			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	159					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGACACGTCTCTCGGATCATC	0.577																																																	0													32	34	34					19																	56703331		2203	4300	6503	SO:0001583	missense	0				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.476G>C	19.37:g.56703331C>G	ENSP00000466072:p.Arg159Thr			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R159T	ENST00000586855.2	37	c.476	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	C	0.569	-0.842079	0.02671	.	.	ENSG00000197213	ENST00000358992	T	0.05717	3.4	1.9	-2.38	0.06622	.	.	.	.	.	T	0.04679	0.0127	L	0.58101	1.795	0.09310	N	1	P	0.38922	0.651	B	0.30646	0.118	T	0.37979	-0.9682	9	0.19147	T	0.46	.	3.9056	0.09180	0.3542:0.4771:0.1687:0.0	.	159	A6NJL1	ZSA5B_HUMAN	T	159	ENSP00000351883:R159T	ENSP00000351883:R159T	R	-	2	0	ZSCAN5B	61395143	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-1.163000	0.03138	-0.658000	0.05366	0.306000	0.20318	AGA	ZSCAN5B	-	NULL	ENSG00000197213		0.577	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	-	0	67	0	C	NM_001080456		56703331	-1	tier1	-	no_errors	ENST00000358992	ensembl	human	known	74_37	missense	19.28	67	16	SNP	0.000	G	G	56703331	C	G	56703331	3	3	26	1	0	0	0	0	1	0	0	0	18287	913	32	5	1023	5	ZSCAN5B	19	56703331	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	188138	56703331	2425652	321	6873											
VN1R1	57191	genome.wustl.edu	37	chr19	57967238	57967238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgctttgtaagaacagtatCcataattgttttttgcacta	12	17	6	6	0	0	1	0	0	0	1	1	1	1	1	1	0	3	5	1	0	5	9			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:57967238C>A	ENST00000321039.3	-	1	616	c.617G>T	c.(616-618)gGa>gTa	p.G206V	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	206					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AGAACAGTATCCATAATTGTT	0.408																																																	0													101	96	98					19																	57967238		2203	4300	6503	SO:0001583	missense	0			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.617G>T	19.37:g.57967238C>A	ENSP00000322339:p.Gly206Val		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.G206V	ENST00000321039.3	37	c.617	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273090	0.40194	.	.	ENSG00000178201	ENST00000321039	T	0.09255	3.0	3.96	-7.08	0.01558	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12987	0.0315	M	0.66439	2.03	0.09310	N	1	P	0.48589	0.912	P	0.51806	0.68	T	0.09818	-1.0657	9	0.34782	T	0.22	.	0.9102	0.01293	0.2313:0.1773:0.3425:0.2489	.	206	Q9GZP7	VN1R1_HUMAN	V	206	ENSP00000322339:G206V	ENSP00000322339:G206V	G	-	2	0	VN1R1	62659050	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.383000	0.07398	-0.803000	0.04415	0.590000	0.80494	GGA	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000178201		0.408	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	-	0	43	0	C	NM_020633		57967238	-1	tier1	-	no_errors	ENST00000321039	ensembl	human	known	74_37	missense	33.33	36	18	SNP	0.000	A	A	57967238	C	A	57967238	3	1	26	1	0	0	0	0	1	0	0	0	17227	855	30	3	448	3	VN1R1	19	57967238	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1263907	57967238	1161745	322	6874											
ZNF274	10782	genome.wustl.edu	37	chr19	58698339	58698339	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctttccaaaccagatgtGgtatctcagttagaggaggc	11	10	11	9	0	1	2	1	0	1	2	3	3	2	3	2	3	2	3	2	3	3	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr19:58698339G>T	ENST00000326804.4	+	4	645	c.186G>T	c.(184-186)gtG>gtT	p.V62V	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Intron|ZNF274_ENST00000424679.2_Intron	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	62	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		AACCAGATGTGGTATCTCAGT	0.502																																																	0													50	48	49					19																	58698339		1931	4151	6082	SO:0001819	synonymous_variant	0			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.186G>T	19.37:g.58698339G>T			Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Silent	SNP	pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.V62	ENST00000326804.4	37	c.186		19																																																																																			ZNF274	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171606		0.502	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	HGNC	protein_coding		-	0	27	0	G	NM_133502		58698339	1	tier1	-	no_errors	ENST00000326804	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.998	T	T	58698339	G	T	58698339	2	4	26	1	0	0	0	0	0	0	0	1	17857	1335	47	3		3	ZNF274	19	58698339	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	731101	58698339	430644	323	6875											
SIRPB1	10326	genome.wustl.edu	37	chr20	1592043	1592044	+	Intron	DEL	CA	CA	-																															cctgctccagacttaaactcCacgtggtcggggctcccttt																								rs369003673|rs373671792		TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr20:1592043_1592044delCA	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Frame_Shift_Del_p.V131fs|SIRPB1_ENST00000568365.1_Frame_Shift_Del_p.V131fs	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACTTAAACTCCACGTGGTCGGG	0.515																																																	0									,,	231,1407		113,5,701					,,	2.7	0			85	326,4880		161,4,2438	no	intron,frameshift,intron	SIRPB1	NM_006065.3,NM_001135844.2,NM_001083910.2	,,	274,9,3139	A1A1,A1R,RR		6.262,14.1026,8.1385	,,	,,		557,6287				SO:0001627	intron_variant	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8470TG>-	20.37:g.1592043_1592044delCA			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Frame_Shift_Del	DEL	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V131fs	ENST00000381605.4	37	c.393_392	CCDS13019.1	20																																																																																			SIRPB1	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000101307		0.515	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2		0	60	0	CA	NM_006065		1592044	-1			no_errors	ENST00000279477	ensembl	human	known	74_37	frame_shift_del	12.73	48	7	DEL	0.021:0.003	0	-	1592044	CA	-	1592043	6	5	26	0	1	1	0	1	0	0	0	0	14378	581	21	0		0	SIRPB1	20	1592043	Intron	DEL	CA	TCGA-IG-A5B8-01A-11D-A28B-09		1592043	61433477	324	6876	27	2									
SIRPB1	10326	genome.wustl.edu	37	chr20	1592048	1592048	+	Intron	DEL	G	G	-																															tccagacttaaactccacgtGgtcggggctccctttccgga																								rs372728073|rs45545343	byFrequency	TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr20:1592048delG	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000279477.7_Frame_Shift_Del_p.H130fs|SIRPB1_ENST00000568365.1_Frame_Shift_Del_p.H130fs	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AACTCCACGTGGTCGGGGCTC	0.517																																																	0									,,	293,1373		143,7,683	110	108	108		,,	1.4	0	20		91	398,4888		193,12,2438	no	intron,frameshift,intron	SIRPB1	NM_006065.3,NM_001135844.2,NM_001083910.2	,,	336,19,3121	A1A1,A1R,RR		7.5293,17.587,9.9396	,,	,,	1592048	691,6261	242	939	1181	SO:0001627	intron_variant	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8466C>-	20.37:g.1592048delG			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Frame_Shift_Del	DEL	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.H130fs	ENST00000381605.4	37	c.388	CCDS13019.1	20																																																																																			SIRPB1	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000101307		0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2		0	59	0	G	NM_006065		1592048	-1			no_errors	ENST00000279477	ensembl	human	known	74_37	frame_shift_del	12.07	51	7	DEL	0.000	0	-	1592048	G	-	1592048	6	5	26	0	1	1	0	1	0	0	0	0	14378	1348	47	0		0	SIRPB1	20	1592048	Intron	DEL	G	TCGA-IG-A5B8-01A-11D-A28B-09	5	1592048	61433472	325	6877	27	2									
SIGLEC1	6614	genome.wustl.edu	37	chr20	3674093	3674093	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatccagccagactcaCagaggacgtccaaggtgata	12	6	10	13	1	1	3	1	1	0	2	3	4	3	4	4	2	2	1	4	2	2	1			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr20:3674093C>T	ENST00000344754.4	-	13	3508		c.e13+1		SIGLEC1_ENST00000202578.4_Splice_Site	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin						cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCCAGACTCACAGAGGACGTC	0.647																																																	1	Unknown(1)	ovary(1)											27	32	30					20																	3674093		2202	4300	6502	SO:0001630	splice_region_variant	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3508+1G>A	20.37:g.3674093C>T			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Splice_Site	SNP	-	e13+1	ENST00000344754.4	37	c.3508+1	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044315	0.36085	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9452	0.71026	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIGLEC1	3622093	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	4.214000	0.58527	2.612000	0.88384	0.655000	0.94253	.	SIGLEC1	-	-	ENSG00000088827		0.647	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0	70	0	C	NM_023068	Intron	3674093	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	splice_site	13.56	51	8	SNP	1.000	T	T	3674093	C	T	3674093	5	4	26	1	0	0	0	0	0	0	1	0	14350	492	17	3	1656	3	SIGLEC1	20	3674093	Splice_Site	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	2082045	3674093	59351427	326	6878											
C20orf26	26074	genome.wustl.edu	37	chr20	20269495	20269495	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcagctatgctacatctCtttgatccaacccttgagcc	9	11	7	14	0	1	2	0	2	1	0	3	2	2	2	3	0	6	4	3	0	3	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr20:20269495C>G	ENST00000245957.5	+	23	3115	c.3039C>G	c.(3037-3039)ctC>ctG	p.L1013L	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1013										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCTACATCTCTTTGATCCAA	0.473																																																	0													68	59	62					20																	20269495		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000245957.5:c.3039C>G	20.37:g.20269495C>G			A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	superfamily_Acyl_CoA_acyltransferase	p.L1013	ENST00000245957.5	37	c.3039	CCDS33447.1	20																																																																																			C20orf26	-	NULL	ENSG00000089101		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	-	0	49	0	C			20269495	1	tier1	-	no_errors	ENST00000245957	ensembl	human	known	74_37	silent	12.50	49	7	SNP	0.996	G	G	20269495	C	G	20269495	2	3	26	1	0	0	0	0	0	0	0	1	2113	900	32	5		5	C20orf26	20	20269495	Silent	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	16595402	20269495	42756025	327	6879											
PAX1	5075	genome.wustl.edu	37	chr20	21687102	21687102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtatggcgaggtgaaccagCtgggcggtgtgttcgtcaac	7	9	16	9	4	1	1	1	1	0	0	2	2	1	1	1	4	3	3	1	4	3	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr20:21687102C>A	ENST00000398485.2	+	2	367	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Missense_Mutation_p.L81M	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	105	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGTGAACCAGCTGGGCGGTGT	0.662																																																	0													35	40	38					20																	21687102		2203	4299	6502	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.313C>A	20.37:g.21687102C>A	ENSP00000381499:p.Leu105Met		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.L105M	ENST00000398485.2	37	c.313	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020506	0.54576	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99695	-6.43;-6.43	5.14	4.2	0.49525	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000004	D	0.99725	0.9893	M	0.93678	3.445	0.53005	D	0.999961	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.988;0.999;0.998	D	0.97873	1.0287	10	0.87932	D	0	.	10.5391	0.45022	0.0:0.842:0.0:0.158	.	81;11;105	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	M	105;81	ENSP00000381499:L105M;ENSP00000410355:L81M	ENSP00000381499:L105M	L	+	1	2	PAX1	21635102	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	0.952000	0.29149	1.161000	0.42604	0.655000	0.94253	CTG	PAX1	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000125813		0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	47	0	C			21687102	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	46.43	30	26	SNP	1.000	A	A	21687102	C	A	21687102	3	1	26	1	0	0	0	0	1	0	0	0	11517	796	28	3	319	3	PAX1	20	21687102	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	1417607	21687102	41338418	328	6880											
R3HDML	140902	genome.wustl.edu	37	chr20	42965973	42965973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccggaagcgccacatctCtgtgagagacatgaatgcct	10	7	11	13	3	1	3	0	2	1	1	2	5	1	4	4	1	2	0	4	1	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr20:42965973C>T	ENST00000217043.2	+	1	348	c.176C>T	c.(175-177)tCt>tTt	p.S59F		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	59						extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCACATCTCTGTGAGAGAC	0.607																																																	0													68	62	64					20																	42965973		2203	4300	6503	SO:0001583	missense	0			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.176C>T	20.37:g.42965973C>T	ENSP00000217043:p.Ser59Phe			Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.S59F	ENST00000217043.2	37	c.176	CCDS13329.1	20	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853134	0.51270	.	.	ENSG00000101074	ENST00000217043	T	0.11712	2.75	5.18	5.18	0.71444	CAP domain (2);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.66939	2.045	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.04678	-1.0934	10	0.72032	D	0.01	.	18.686	0.91563	0.0:1.0:0.0:0.0	.	59	Q9H3Y0	CRSPL_HUMAN	F	59	ENSP00000217043:S59F	ENSP00000217043:S59F	S	+	2	0	R3HDML	42399387	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	4.305000	0.59110	2.419000	0.82065	0.385000	0.25706	TCT	R3HDML	-	superfamily_CAP_domain	ENSG00000101074		0.607	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	R3HDML	HGNC	protein_coding	OTTHUMT00000079344.1	-	0	72	0	C	NM_178491		42965973	1	tier1	-	no_errors	ENST00000217043	ensembl	human	known	74_37	missense	9.64	75	8	SNP	1.000	T	T	42965973	C	T	42965973	3	4	26	1	0	0	0	0	1	0	0	0	12934	913	32	3	178	3	R3HDML	20	42965973	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	21278871	42965973	20059547	329	6881											
TSHZ2	128553	genome.wustl.edu	37	chr20	51872037	51872037	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctctgagcaatgggtgCgccctcgccaaccacgcccc	6	7	10	18	3	2	1	0	1	2	0	3	1	2	1	5	1	4	2	5	1	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr20:51872037C>A	ENST00000371497.5	+	2	2927	c.2040C>A	c.(2038-2040)tgC>tgA	p.C680*	TSHZ2_ENST00000603338.2_Nonsense_Mutation_p.C677*|TSHZ2_ENST00000329613.6_Nonsense_Mutation_p.C677*|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	680					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCAATGGGTGCGCCCTCGCCA	0.632																																																	0													50	47	48					20																	51872037		2203	4300	6503	SO:0001587	stop_gained	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2040C>A	20.37:g.51872037C>A	ENSP00000360552:p.Cys680*		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.C680*	ENST00000371497.5	37	c.2040	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	C	41	8.701216	0.98920	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	.	.	.	5.53	-6.81	0.01704	.	0.049571	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.0834	15.8151	0.78595	0.0:0.5909:0.0:0.4091	.	.	.	.	X	680;677;206	.	ENSP00000333114:C677X	C	+	3	2	TSHZ2	51305444	0.045000	0.20229	0.000000	0.03702	0.008000	0.06430	0.012000	0.13287	-1.850000	0.01169	-0.796000	0.03273	TGC	TSHZ2	-	NULL	ENSG00000182463		0.632	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6		0	26	0	C	NM_173485		51872037	1			no_errors	ENST00000371497	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.018	A	A	51872037	C	A	51872037	4	1	26	1	0	0	0	0	0	1	0	0	16672	776	27	2	2046	2	TSHZ2	20	51872037	Nonsense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	8906064	51872037	11153483	330	6882											
XKR3	150165	genome.wustl.edu	37	chr22	17288835	17288835	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaacctcaccacagtaGagaacagttgagaagataat	18	6	9	8	0	1	3	1	1	0	3	1	5	1	3	2	1	2	3	2	1	6	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr22:17288835G>T	ENST00000331428.5	-	2	231	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CACCACAGTAGAGAACAGTTG	0.378																																																	0													112	106	107					22																	17288835		1875	4104	5979	SO:0001819	synonymous_variant	0			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"X Kell blood group precursor-related family, member 3"			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.129C>A	22.37:g.17288835G>T			B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	pfam_Transport_prot_XK	p.L43	ENST00000331428.5	37	c.129	CCDS42975.1	22																																																																																			XKR3	-	pfam_Transport_prot_XK	ENSG00000172967		0.378	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR3	HGNC	protein_coding	OTTHUMT00000289789.1	-	0	34	0	G	NM_175878		17288835	-1	tier1	-	no_errors	ENST00000331428	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.682	T	T	17288835	G	T	17288835	2	4	26	1	0	0	0	0	0	0	0	1	17481	929	33	3		3	XKR3	22	17288835	Silent	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09		17288835	34015731	331	6883											
MYO18B	84700	genome.wustl.edu	37	chr22	26242238	26242238	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagccccgtgctcccagatCaagctgcagatggtgagtgg	10	7	13	11	1	1	3	1	1	0	2	2	3	2	3	3	2	4	3	3	2	2	0			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr22:26242238C>G	ENST00000407587.2	+	19	3712	c.3543C>G	c.(3541-3543)atC>atG	p.I1181M	MYO18B_ENST00000335473.7_Missense_Mutation_p.I1180M|MYO18B_ENST00000536101.1_Missense_Mutation_p.I1180M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1180	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.I1181M(2)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTCCCAGATCAAGCTGCAGA	0.617																																																	2	Substitution - Missense(2)	lung(2)											75	90	85					22																	26242238		2178	4267	6445	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3543C>G	22.37:g.26242238C>G	ENSP00000386096:p.Ile1181Met		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1180M	ENST00000407587.2	37	c.3540		22	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291905	0.59976	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72282	-0.64;-0.64;-0.64	4.32	4.32	0.51571	Myosin head, motor domain (2);	0.272209	0.35525	N	0.003141	D	0.82490	0.5048	M	0.74258	2.255	0.37920	D	0.93165	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.975;0.989;0.983;0.982	D	0.85397	0.1129	10	0.49607	T	0.09	.	14.3612	0.66773	0.0:1.0:0.0:0.0	.	693;1180;1181;1180	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	M	1180;1180;1181	ENSP00000441229:I1180M;ENSP00000334563:I1180M;ENSP00000386096:I1181M	ENSP00000334563:I1180M	I	+	3	3	MYO18B	24572238	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.593000	0.36686	2.255000	0.74692	0.561000	0.74099	ATC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.617	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	39	0	C	NM_032608		26242238	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	44.44	20	16	SNP	1.000	G	G	26242238	C	G	26242238	3	3	26	1	0	0	0	0	1	0	0	0	10104	816	29	5	3610	5	MYO18B	22	26242238	Missense_Mutation	SNP	C	TCGA-IG-A5B8-01A-11D-A28B-09	8953403	26242238	25062328	332	6884											
EP300	2033	genome.wustl.edu	37	chr22	41565574	41565574	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgcttgaggactgcagtcTatcatgaaatcctaattgga	13	12	9	7	0	2	2	1	2	1	0	3	4	3	4	1	2	2	2	1	2	4	4			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr22:41565574T>G	ENST00000263253.7	+	26	5459	c.4240T>G	c.(4240-4242)Tat>Gat	p.Y1414D	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1414	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1414fs*3(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GACTGCAGTCTATCATGAAAT	0.333			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Insertion - Frameshift(1)	urinary_tract(1)											89	86	87					22																	41565574		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4240T>G	22.37:g.41565574T>G	ENSP00000263253:p.Tyr1414Asp		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Y1414D	ENST00000263253.7	37	c.4240	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970102	0.74246	.	.	ENSG00000100393	ENST00000263253	D	0.94280	-3.39	5.55	5.55	0.83447	.	0.000000	0.41396	D	0.000891	D	0.97820	0.9284	H	0.96175	3.78	0.58432	D	0.999994	D	0.76494	0.999	D	0.87578	0.998	D	0.99187	1.0869	10	0.87932	D	0	-7.4381	15.6988	0.77521	0.0:0.0:0.0:1.0	.	1414	Q09472	EP300_HUMAN	D	1414	ENSP00000263253:Y1414D	ENSP00000263253:Y1414D	Y	+	1	0	EP300	39895520	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.953000	0.87836	2.115000	0.64714	0.455000	0.32223	TAT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.333	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	21	0	T	NM_001429		41565574	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	G	G	41565574	T	G	41565574	3	3	26	1	0	0	0	0	1	0	0	0	5164	1522	53	4	4342	4	EP300	22	41565574	Missense_Mutation	SNP	T	TCGA-IG-A5B8-01A-11D-A28B-09	15323336	41565574	9738992	333	6885											
XRCC6	2547	genome.wustl.edu	37	chr22	42033762	42033762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgttgcggaaggttcGcgccaaggagaccaggaagc	11	5	15	10	3	0	2	0	0	0	2	1	5	0	4	3	4	2	2	3	4	3	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chr22:42033762G>A	ENST00000359308.4	+	5	1395	c.740G>A	c.(739-741)cGc>cAc	p.R247H	XRCC6_ENST00000405878.1_Missense_Mutation_p.R247H|XRCC6_ENST00000405506.1_Missense_Mutation_p.R197H|XRCC6_ENST00000402580.3_Missense_Mutation_p.R206H|XRCC6_ENST00000428575.2_Missense_Mutation_p.R114H|XRCC6_ENST00000360079.3_Missense_Mutation_p.R247H			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	247					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CGGAAGGTTCGCGCCAAGGAG	0.562								Non-homologous end-joining																																									0													50	43	45					22																	42033762		2203	4300	6503	SO:0001583	missense	0			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.740G>A	22.37:g.42033762G>A	ENSP00000352257:p.Arg247His		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70	p.R247H	ENST00000359308.4	37	c.740	CCDS14021.1	22	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084576	0.76642	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	5.6	4.57	0.56435	Ku70/Ku80, N-terminal alpha/beta (1);	0.000000	0.85682	D	0.000000	T	0.67618	0.2912	M	0.87758	2.905	0.80722	D	1	B;P;B;B	0.35363	0.256;0.497;0.424;0.194	B;B;B;B	0.35607	0.169;0.14;0.136;0.206	T	0.68845	-0.5301	9	0.29301	T	0.29	-4.3483	15.8157	0.78597	0.0:0.0:0.8628:0.1372	.	197;247;206;247	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	H	247;206;114;247;247;247;197	.	ENSP00000352257:R247H	R	+	2	0	XRCC6	40363708	1.000000	0.71417	0.881000	0.34555	0.961000	0.63080	6.154000	0.71826	1.328000	0.45358	0.655000	0.94253	CGC	XRCC6	-	pirsf_Ku70,pfam_Ku_N,tigrfam_Ku70	ENSG00000196419		0.562	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	-	0	18	0	G	NM_001469		42033762	1	tier1	-	no_errors	ENST00000359308	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.999	A	A	42033762	G	A	42033762	3	1	26	1	0	0	0	0	1	0	0	0	17506	1087	38	1	758	1	XRCC6	22	42033762	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	468188	42033762	9270804	334	6886											
MSN	4478	genome.wustl.edu	37	chrX	64956728	64956730	+	In_Frame_Del	DEL	AGG	AGG	-																															agagaagattgaacgggagaAggaggagctgatggagaggc																										TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chrX:64956728_64956730delAGG	ENST00000360270.5	+	9	1203_1205	c.1031_1033delAGG	c.(1030-1035)aaggag>aag	p.E346del		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	346					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						gaacgggagaaggaggagctgat	0.473			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0										8,3707		0,4,4,1587,529						4.4	1			96	37,6438		0,15,22,2341,1741	no	coding	MSN	NM_002444.2		0,19,26,3928,2270	A1A1,A1R,A1,RR,R		0.5714,0.2153,0.4416				45,10145				SO:0001651	inframe_deletion	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1031_1033delAGG	X.37:g.64956731_64956733delAGG	ENSP00000353408:p.Glu346del			In_Frame_Del	DEL	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.E346in_frame_del	ENST00000360270.5	37	c.1031_1033	CCDS14382.1	X																																																																																			MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.473	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1		0	12	0	AGG	NM_002444		64956730	1			no_errors	ENST00000360270	ensembl	human	known	74_37	in_frame_del	14.00	43	7	DEL	1.000:0.998:1.000	0	-	64956730	AGG	-	64956728	7	5	26	1	0	1	0	1	0	0	0	0	9923	72	3	0	1065	0	MSN	23	64956728	In_Frame_Del	DEL	AGG	TCGA-IG-A5B8-01A-11D-A28B-09		64956728	90313832	335	6887											
CXorf26	51260	genome.wustl.edu	37	chrX	75397537	75397537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatcagtgttcaggacaaaGaaggagagaaaggagtcaac	18	6	12	5	0	3	2	3	0	0	2	3	6	3	5	0	3	1	1	0	3	5	2			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chrX:75397537G>A	ENST00000373358.3	+	6	699	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	PBDC1_ENST00000373357.3_Silent_p.K128K	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	166																	TCAGGACAaagaaggagagaa	0.438																																																	0													94	85	88					X																	75397537		2203	4300	6503	SO:0001583	missense	0			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"chromosome X open reading frame 26"	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.496G>A	X.37:g.75397537G>A	ENSP00000362456:p.Glu166Lys			Missense_Mutation	SNP	pfam_Put_polysacc_synth	p.E166K	ENST00000373358.3	37	c.496	CCDS14432.1	X	.	.	.	.	.	.	.	.	.	.	G	8.030	0.761482	0.15914	.	.	ENSG00000102390	ENST00000373358	.	.	.	5.21	1.46	0.22682	.	0.485483	0.24645	N	0.036769	T	0.24275	0.0588	L	0.27053	0.805	0.24104	N	0.995865	B	0.06786	0.001	B	0.06405	0.002	T	0.15838	-1.0423	8	.	.	.	-19.5685	6.6733	0.23080	0.4088:0.0:0.5912:0.0	.	166	Q9BVG4	CX026_HUMAN	K	166	.	.	E	+	1	0	CXorf26	75313940	0.961000	0.32948	0.334000	0.25495	0.485000	0.33311	0.712000	0.25779	0.173000	0.19788	-0.213000	0.12676	GAA	PBDC1	-	NULL	ENSG00000102390		0.438	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBDC1	HGNC	protein_coding	OTTHUMT00000057294.1	-	0	9	0	G	NM_016500		75397537	1	tier1	-	no_errors	ENST00000373358	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.000	A	A	75397537	G	A	75397537	3	1	26	1	0	0	0	0	1	0	0	0	4113	943	33	3	518	3	CXorf26	23	75397537	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	10440809	75397537	79873023	336	6888											
MORC4	79710	genome.wustl.edu	37	chrX	106228369	106228369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgagtgccttttttgcctgGgatggcatcaaactgggcca	8	11	12	10	1	1	0	1	0	0	0	1	2	1	1	3	3	3	1	3	3	1	3			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chrX:106228369G>T	ENST00000355610.4	-	5	905	c.631C>A	c.(631-633)Cca>Aca	p.P211T	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Missense_Mutation_p.P211T	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	211						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTTTTGCCTGGGATGGCATCA	0.418																																																	0													107	100	102					X																	106228369		2203	4300	6503	SO:0001583	missense	0			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 2", "zinc finger, CW type with coiled-coil domain 2"	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.631C>A	X.37:g.106228369G>T	ENSP00000347821:p.Pro211Thr		A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW	p.P211T	ENST00000355610.4	37	c.631	CCDS14525.2	X	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545384	0.65198	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.73258	-0.73;-0.73	4.78	4.78	0.61160	ATPase-like, ATP-binding domain (2);	0.267510	0.37530	N	0.002054	T	0.70037	0.3178	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.887	T	0.63765	-0.6563	10	0.07990	T	0.79	-7.9048	12.7344	0.57214	0.0:0.0:1.0:0.0	.	211;211	A1YR23;Q8TE76	.;MORC4_HUMAN	T	211	ENSP00000347821:P211T;ENSP00000255495:P211T	ENSP00000255495:P211T	P	-	1	0	MORC4	106115025	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.301000	0.51842	2.304000	0.77564	0.529000	0.55759	CCA	MORC4	-	superfamily_HATPase_ATP-bd	ENSG00000133131		0.418	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORC4	HGNC	protein_coding	OTTHUMT00000057816.3		0	44	0	G	NM_024657		106228369	-1			no_errors	ENST00000355610	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	106228369	G	T	106228369	3	4	26	1	0	0	0	0	1	0	0	0	9742	1232	43	3	2234	3	MORC4	23	106228369	Missense_Mutation	SNP	G	TCGA-IG-A5B8-01A-11D-A28B-09	30830832	106228369	49042191	337	6889											
DOCK11	139818	genome.wustl.edu	37	chrX	117758549	117758549	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctcccctttgttggactActtttggaaaatatacagcg	10	14	7	10	1	0	0	0	0	0	0	1	2	1	2	3	2	4	1	3	2	6	8			TCGA-IG-A5B8-01A-11D-A28B-09	TCGA-IG-A5B8-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d2635231-8fb7-4495-bbf6-a63d2189c046	0561ebf7-7dbb-470c-a60f-58993a9b8db8	g.chrX:117758549A>G	ENST00000276202.7	+	32	3582	c.3519A>G	c.(3517-3519)ctA>ctG	p.L1173L	DOCK11_ENST00000276204.6_Silent_p.L1173L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1173					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTGTTGGACTACTTTTGGAAA	0.333																																																	0													184	171	176					X																	117758549		2203	4300	6503	SO:0001819	synonymous_variant	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3519A>G	X.37:g.117758549A>G			A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1173	ENST00000276202.7	37	c.3519	CCDS35373.1	X																																																																																			DOCK11	-	NULL	ENSG00000147251		0.333	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	-	0	29	0	A	NM_144658		117758549	1	tier1	-	no_errors	ENST00000276202	ensembl	human	known	74_37	silent	51.52	16	17	SNP	1.000	G	G	117758549	A	G	117758549	2	3	26	1	0	0	0	0	0	0	0	1	4700	378	14	4		4	DOCK11	23	117758549	Silent	SNP	A	TCGA-IG-A5B8-01A-11D-A28B-09	11530180	117758549	37512011	338	6890											
HSPG2	3339	genome.wustl.edu	37	chr1	22169271	22169271	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctgtacctggtgccGggcggggaggctgcccccgc	2	6	17	16	3	0	0	0	0	0	0	0	1	0	1	6	6	3	2	6	6	1	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:22169271G>C	ENST00000374695.3	-	67	8981	c.8902C>G	c.(8902-8904)Cgg>Ggg	p.R2968G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2968	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCTGGTGCCGGGCGGGGAGG	0.622																																																	0													36	41	39					1																	22169271		2202	4300	6502	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8902C>G	1.37:g.22169271G>C	ENSP00000363827:p.Arg2968Gly		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.R2968G	ENST00000374695.3	37	c.8902	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200052	0.38905	.	.	ENSG00000142798	ENST00000374695	T	0.11385	2.78	4.92	3.91	0.45181	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.230767	0.21525	N	0.073154	T	0.14141	0.0342	L	0.46567	1.45	0.80722	D	1	B;B	0.31519	0.263;0.327	B;B	0.40329	0.326;0.268	T	0.05037	-1.0910	10	0.40728	T	0.16	.	11.3085	0.49349	0.0:0.0:0.7345:0.2655	.	908;2968	Q59EG0;P98160	.;PGBM_HUMAN	G	2968	ENSP00000363827:R2968G	ENSP00000363827:R2968G	R	-	1	2	HSPG2	22041858	0.041000	0.20044	0.994000	0.49952	0.993000	0.82548	1.279000	0.33191	2.268000	0.75426	0.462000	0.41574	CGG	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	102	0	G	NM_005529		22169271	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	18.18	81	18	SNP	0.994	C	C	22169271	G	C	22169271	3	2	27	1	0	0	0	0	1	0	0	0	7457	1115	39	5	4397	5	HSPG2	1	22169271	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		22169271	227081350	1	6891											
MSH4	4438	genome.wustl.edu	37	chr1	76346962	76346962	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcttagtgagatttatGaacatattcattgcttatat	13	17	6	5	0	1	2	1	2	0	1	1	3	1	2	0	0	4	2	0	0	7	8			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:76346962G>T	ENST00000263187.3	+	14	1917	c.1813G>T	c.(1813-1815)Gaa>Taa	p.E605*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	605					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGAGATTTATGAACATATTCA	0.343								Mismatch excision repair (MMR)																																									0													172	159	163					1																	76346962		2203	4299	6502	SO:0001587	stop_gained	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1813G>T	1.37:g.76346962G>T	ENSP00000263187:p.Glu605*		Q5T4U6|Q8NEB3|Q9UNP8	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.E605*	ENST00000263187.3	37	c.1813	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.901451	0.98551	.	.	ENSG00000057468	ENST00000263187	.	.	.	5.59	5.59	0.84812	.	0.049140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-26.5872	19.5992	0.95552	0.0:0.0:1.0:0.0	.	.	.	.	X	605	.	ENSP00000263187:E605X	E	+	1	0	MSH4	76119550	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.483000	0.81158	2.642000	0.89623	0.650000	0.86243	GAA	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.343	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	-	0	182	0	G	NM_002440		76346962	1	tier1	-	no_errors	ENST00000263187	ensembl	human	known	74_37	nonsense	5.23	163	9	SNP	1.000	T	T	76346962	G	T	76346962	4	4	27	1	0	0	0	0	0	1	0	0	9910	1291	45	3	1867	3	MSH4	1	76346962	Nonsense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	54177691	76346962	172903659	2	6892											
NBPF14	25832	genome.wustl.edu	37	chr1	148015634	148015634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtactcaccatccatgtTaacagccaagccaacacgct	14	7	6	14	1	1	0	1	0	0	0	2	0	2	0	4	1	5	3	4	1	5	2	rs200156420	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:148015634T>C	ENST00000369219.1	-	8	1013	c.997A>G	c.(997-999)Aac>Gac	p.N333D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	333	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.			N -> D (in Ref. 3; AAO15399). {ECO:0000305}.		cytoplasm (GO:0005737)		p.N333D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCATCCATGTTAACAGCCAAG	0.463													-|||	445	0.0888578	0.146	0.0778	5008	,	,		13640	0.0675		0.0408	False		,,,				2504	0.091																1	Substitution - Missense(1)	skin(1)											4	3	4					1																	148015634		718	1612	2330	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.997A>G	1.37:g.148015634T>C	ENSP00000358221:p.Asn333Asp		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.N333D	ENST00000369219.1	37	c.997		1	.	.	.	.	.	.	.	.	.	.	-	0	-2.747081	0.00086	.	.	ENSG00000122497	ENST00000369219	T	0.04234	3.67	.	.	.	DUF1220 (2);	.	.	.	.	T	0.00210	0.0006	N	0.00028	-2.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43686	-0.9376	7	0.02654	T	1	.	.	.	.	.	333	Q5TI25	NBPFE_HUMAN	D	333	ENSP00000358221:N333D	ENSP00000358221:N333D	N	-	1	0	NBPF14	146482258	0.402000	0.25311	0.002000	0.10522	0.000000	0.00434	-1.348000	0.02629	0.357000	0.24183	0.000000	0.15137	AAC	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding			0	28	0	T	NM_015383		148015634	-1			no_errors	ENST00000369219	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.002	C	C	148015634	T	C	148015634	3	2	27	1	0	0	0	0	1	0	0	0	10233	1754	61	4	1828	4	NBPF14	1	148015634	Missense_Mutation	SNP	T	TCGA-IG-A5S3-01A-11D-A28B-09	71668672	148015634	101234987	3	6893											
SUSD4	55061	genome.wustl.edu	37	chr1	223408377	223408377	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacacagggcaaaaataaaGcacagcagctgccaacctga	18	4	8	11	0	0	1	0	1	0	0	0	1	0	1	2	1	6	4	2	1	6	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:223408377G>A	ENST00000343846.3	-	5	1358				SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.L264F|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CAAAAATAAAGCACAGCAGCT	0.433																																																	0													128	119	122					1																	223408377		2203	4300	6503	SO:0001627	intron_variant	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5647C>T	1.37:g.223408377G>A			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L264F	ENST00000343846.3	37	c.790	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	G	7.261	0.605208	0.14002	.	.	ENSG00000143502	ENST00000344029	T	0.34667	1.35	2.34	-3.53	0.04667	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.21552	-1.0242	8	0.52906	T	0.07	.	6.4197	0.21736	0.6037:0.0:0.3963:0.0	.	264	Q5VX71-3	.	F	264	ENSP00000339926:L264F	ENSP00000339926:L264F	L	-	1	0	SUSD4	221475000	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.095000	0.03356	-0.937000	0.03719	-0.259000	0.10710	CTT	SUSD4	-	NULL	ENSG00000143502		0.433	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	-	0	54	0	G	NM_017982		223408377	-1	tier1	-	no_errors	ENST00000344029	ensembl	human	known	74_37	missense	67.65	11	23	SNP	0.000	A	A	223408377	G	A	223408377	1	1	27	0	1	0	0	0	0	0	0	0	15457	971	34	3		3	SUSD4	1	223408377	Intron	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	75392743	223408377	25842244	4	6894											
TRIM54	57159	genome.wustl.edu	37	chr2	27529352	27529352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggaggaagaggaggtggcCccagacggagaggagggcag	11	1	23	6	1	0	3	0	0	0	3	0	8	0	7	2	9	0	1	2	9	1	0			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:27529352C>T	ENST00000380075.2	+	8	1360	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	TRIM54_ENST00000296098.4_Silent_p.A382A	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	340					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGGTGGCCCCAGACGGAG	0.697																																																	0													15	19	17					2																	27529352		2190	4281	6471	SO:0001819	synonymous_variant	0			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16008	protein-coding gene	gene with protein product		606474	"ring finger protein 30", "tripartite motif-containing 54"	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.1020C>T	2.37:g.27529352C>T			A5D8T7|Q53SY4|Q9BYV3	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A382	ENST00000380075.2	37	c.1146	CCDS1746.2	2																																																																																			TRIM54	-	NULL	ENSG00000138100		0.697	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	-	0	94	0	C	NM_187841		27529352	1	tier1	-	no_errors	ENST00000296098	ensembl	human	known	74_37	silent	23.96	72	23	SNP	0.000	T	T	27529352	C	T	27529352	2	4	27	1	0	0	0	0	0	0	0	1	16576	610	22	3		3	TRIM54	2	27529352	Silent	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		27529352	215670021	5	6895											
THNSL2	55258	genome.wustl.edu	37	chr2	88474919	88474919	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacgtacatgtgtttggAggtgtgtgctgaggcagagg	9	10	17	5	1	0	3	0	1	0	2	0	4	0	4	0	4	3	4	0	4	2	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:88474919A>G	ENST00000324166.5	+	3	2261	c.570A>G	c.(568-570)ggA>ggG	p.G190G	THNSL2_ENST00000343544.4_Splice_Site_p.G190G|THNSL2_ENST00000402102.1_Splice_Site_p.G190G|THNSL2_ENST00000449349.1_Splice_Site_p.G158G|THNSL2_ENST00000377254.3_Splice_Site_p.G190G|THNSL2_ENST00000358591.2_Splice_Site_p.G190G|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	190					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						ATGTGTTTGGAGGTGTGTGCT	0.502																																																	0													135	100	112					2																	88474919		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.571+1A>G	2.37:g.88474919A>G			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.G190	ENST00000324166.5	37	c.570	CCDS2002.2	2																																																																																			THNSL2	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000144115		0.502	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	-	0	94	0	A	NM_018271	Silent	88474919	1	tier1	-	no_errors	ENST00000324166	ensembl	human	known	74_37	silent	20.20	79	20	SNP	0.998	G	G	88474919	A	G	88474919	5	3	27	1	0	0	0	0	0	0	1	0	15910	318	11	4	580	4	THNSL2	2	88474919	Splice_Site	SNP	A	TCGA-IG-A5S3-01A-11D-A28B-09	60945567	88474919	154724454	6	6896											
MARCO	8685	genome.wustl.edu	37	chr2	119727700	119727700	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccagttctgaatctGcaggcgcggctccgggtcct	4	9	15	13	3	2	1	0	1	2	0	4	1	4	1	3	5	1	3	3	5	1	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:119727700G>T	ENST00000327097.4	+	3	345	c.210G>T	c.(208-210)ctG>ctT	p.L70L	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	70					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCTGAATCTGCAGGCGCGGC	0.547																																					GBM(8;18 374 7467 11269 32796)												0													61	71	68					2																	119727700		2202	4300	6502	SO:0001819	synonymous_variant	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.210G>T	2.37:g.119727700G>T			B4DW79|Q9Y5S3	Silent	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.L70	ENST00000327097.4	37	c.210	CCDS2124.1	2																																																																																			MARCO	-	NULL	ENSG00000019169		0.547	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0	18	0	G	NM_006770		119727700	1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	silent	31.25	11	5	SNP	1.000	T	T	119727700	G	T	119727700	2	4	27	1	0	0	0	0	0	0	0	1	9349	1306	46	3		3	MARCO	2	119727700	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	31252781	119727700	123471673	7	6897											
ADAM23	8745	genome.wustl.edu	37	chr2	207452839	207452839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctacaatggcgagtgcAagaccagagacaaccagtgt	13	6	12	10	1	0	2	0	0	0	2	0	4	0	2	2	1	4	3	2	1	4	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:207452839A>G	ENST00000264377.3	+	20	2141	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	ADAM23_ENST00000374415.3_Missense_Mutation_p.K605E|ADAM23_ENST00000374416.1_Missense_Mutation_p.K605E	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	605	Cys-rich.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGCGAGTGCAAGACCAGAGA	0.488																																					Melanoma(194;1127 2130 19620 24042 27855)												0													157	128	138					2																	207452839		2203	4300	6503	SO:0001583	missense	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1813A>G	2.37:g.207452839A>G	ENSP00000264377:p.Lys605Glu		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K605E	ENST00000264377.3	37	c.1813	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	A	33	5.229102	0.95173	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.22134	1.97;1.97;1.97	5.73	5.73	0.89815	ADAM, cysteine-rich (2);	0.090877	0.47455	D	0.000223	T	0.54447	0.1859	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62369	-0.6869	10	0.49607	T	0.09	.	16.0153	0.80434	1.0:0.0:0.0:0.0	.	605	O75077	ADA23_HUMAN	E	605;605;499;605	ENSP00000264377:K605E;ENSP00000363537:K605E;ENSP00000363536:K605E	ENSP00000264377:K605E	K	+	1	0	ADAM23	207161084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.310000	0.96267	2.180000	0.69256	0.533000	0.62120	AAG	ADAM23	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000114948		0.488	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	-	0	67	0	A	NM_003812		207452839	1	tier1	-	no_errors	ENST00000264377	ensembl	human	known	74_37	missense	30.65	43	19	SNP	1.000	G	G	207452839	A	G	207452839	3	3	27	1	0	0	0	0	1	0	0	0	245	131	5	4	1891	4	ADAM23	2	207452839	Missense_Mutation	SNP	A	TCGA-IG-A5S3-01A-11D-A28B-09	87725139	207452839	35746534	8	6898											
LMOD3	56203	genome.wustl.edu	37	chr3	69171403	69171403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcccacgggaaggctgggGtcaggggccatgacttccat	8	8	14	11	1	1	1	1	1	0	0	3	2	3	2	3	6	0	1	3	6	1	2	rs138906041	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr3:69171403G>T	ENST00000420581.2	-	1	314	c.135C>A	c.(133-135)gaC>gaA	p.D45E	LMOD3_ENST00000475434.1_Missense_Mutation_p.D45E|LMOD3_ENST00000489031.1_Missense_Mutation_p.D45E	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	45						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAAGGCTGGGGTCAGGGGCCA	0.428																																																	0													74	71	72					3																	69171403		1875	4109	5984	SO:0001583	missense	0			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.135C>A	3.37:g.69171403G>T	ENSP00000414670:p.Asp45Glu		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.D45E	ENST00000420581.2	37	c.135	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765374	0.69878	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.27256	1.68;1.68;1.68	5.32	2.08	0.27032	.	0.043780	0.85682	D	0.000000	T	0.37732	0.1014	L	0.47716	1.5	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	10	0.36615	T	0.2	-38.2795	8.5742	0.33587	0.3399:0.0:0.6601:0.0	.	45	Q0VAK6	LMOD3_HUMAN	E	45	ENSP00000414670:D45E;ENSP00000417210:D45E;ENSP00000418645:D45E	ENSP00000414670:D45E	D	-	3	2	LMOD3	69254093	0.991000	0.36638	1.000000	0.80357	0.990000	0.78478	0.307000	0.19296	0.554000	0.29061	-0.191000	0.12829	GAC	LMOD3	-	pfam_Tropomodulin	ENSG00000163380		0.428	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1		0	72	0	G	XM_067529		69171403	-1			no_errors	ENST00000420581	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	69171403	G	T	69171403	3	4	27	1	0	0	0	0	1	0	0	0	8888	1252	44	3	1559	3	LMOD3	3	69171403	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		69171403	128851027	9	6899											
LRRC15	131578	genome.wustl.edu	37	chr3	194080470	194080470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagcaggagccagttgcGgagcggaaggatgtctgagt	9	8	18	6	2	1	2	0	2	1	0	1	6	1	6	1	4	4	3	1	4	1	2	rs552954426		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr3:194080470G>A	ENST00000347624.3	-	2	1388	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LRRC15_ENST00000428839.1_Missense_Mutation_p.R441C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R441C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	435	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGCCAGTTGCGGAGCGGAAGG	0.562													G|||	1	0.000199681	0	0	5008	,	,		20481	0.001		0	False		,,,				2504	0																0													71	62	65					3																	194080470		2203	4300	6503	SO:0001583	missense	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1303C>T	3.37:g.194080470G>A	ENSP00000306276:p.Arg435Cys		Q495Q6|Q7RTN7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R441C	ENST00000347624.3	37	c.1321	CCDS3306.1	3	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035569	0.35893	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.25579	1.79;1.79;1.79	5.35	4.42	0.53409	Cysteine-rich flanking region, C-terminal (1);	0.961185	0.08661	N	0.912364	T	0.31040	0.0784	L	0.38953	1.18	0.29449	N	0.858578	D;D	0.64830	0.978;0.994	B;P	0.50049	0.425;0.629	T	0.07849	-1.0751	10	0.38643	T	0.18	.	13.0781	0.59099	0.0:0.0:0.7204:0.2796	.	435;441	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	C	435;441;441	ENSP00000306276:R435C;ENSP00000389128:R441C;ENSP00000413707:R441C	ENSP00000306276:R435C	R	-	1	0	LRRC15	195561765	0.013000	0.17824	0.744000	0.31058	0.858000	0.48976	1.796000	0.38794	2.680000	0.91292	0.655000	0.94253	CGC	LRRC15	-	smart_Cys-rich_flank_reg_C	ENSG00000172061		0.562	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	-	0	43	0	G			194080470	-1	tier1	-	no_errors	ENST00000439944	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.421	A	A	194080470	G	A	194080470	3	1	27	1	0	0	0	0	1	0	0	0	9005	1116	39	1	446	1	LRRC15	3	194080470	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	124909067	194080470	3941960	10	6900											
TLR10	81793	genome.wustl.edu	37	chr4	38775539	38775539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaacctagttccccttaggTttaaagggtattcacaggtg	10	14	9	8	0	1	0	1	0	0	0	2	0	2	0	3	3	1	3	3	3	6	8			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:38775539T>A	ENST00000308973.4	-	4	2278	c.1673A>T	c.(1672-1674)aAc>aTc	p.N558I	TLR10_ENST00000506111.1_Missense_Mutation_p.N558I|TLR10_ENST00000361424.2_Missense_Mutation_p.N558I|TLR10_ENST00000508334.1_Missense_Mutation_p.N558I|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	558	LRRCT.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCCCCTTAGGTTTAAAGGGTA	0.398																																																	0													105	102	103					4																	38775539		2203	4300	6503	SO:0001583	missense	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1673A>T	4.37:g.38775539T>A	ENSP00000308925:p.Asn558Ile		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.N558I	ENST00000308973.4	37	c.1673	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	T	9.114	1.007351	0.19199	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.14	-2.85	0.05734	Cysteine-rich flanking region, C-terminal (1);	0.660815	0.13315	N	0.397209	T	0.20495	0.0493	L	0.49126	1.545	0.09310	N	1	B	0.33212	0.402	B	0.35813	0.211	T	0.23762	-1.0179	10	0.87932	D	0	.	6.0529	0.19794	0.0:0.3279:0.2375:0.4346	.	558	Q9BXR5	TLR10_HUMAN	I	558	ENSP00000308925:N558I;ENSP00000421483:N558I;ENSP00000354459:N558I;ENSP00000424923:N558I	ENSP00000308925:N558I	N	-	2	0	TLR10	38451934	0.000000	0.05858	0.981000	0.43875	0.501000	0.33797	-2.535000	0.00940	-0.374000	0.07967	0.477000	0.44152	AAC	TLR10	-	pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C	ENSG00000174123		0.398	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	-	0	41	0	T			38775539	-1	tier1	-	no_errors	ENST00000308973	ensembl	human	known	74_37	missense	17.54	94	20	SNP	0.003	A	A	38775539	T	A	38775539	3	1	27	1	0	0	0	0	1	0	0	0	15997	1725	60	5	766	5	TLR10	4	38775539	Missense_Mutation	SNP	T	TCGA-IG-A5S3-01A-11D-A28B-09		38775539	152378737	11	6901											
LIMCH1	22998	genome.wustl.edu	37	chr4	41621228	41621228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaagcgactctgaatccGacttgcctcatcggaagctg	10	8	12	11	3	2	1	1	1	1	0	4	6	3	3	2	2	3	1	2	2	3	1	rs143218091		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:41621228G>A	ENST00000313860.7	+	8	760	c.706G>A	c.(706-708)Gac>Aac	p.D236N	LIMCH1_ENST00000512946.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000512820.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.D82N|LIMCH1_ENST00000509454.1_Missense_Mutation_p.D84N|LIMCH1_ENST00000503057.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000509638.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.D89N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.D82N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.D82N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	236					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCTGAATCCGACTTGCCTCA	0.502																																																	0								G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	233	239	237		706,706,244,244,706	5.7	1	4	dbSNP_134	237	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	LIMCH1	NM_001112717.1,NM_001112718.1,NM_001112719.1,NM_001112720.1,NM_014988.2	23,23,23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	236/1058,236/1057,82/903,82/891,236/1084	41621228	1,13005	2203	4300	6503	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.706G>A	4.37:g.41621228G>A	ENSP00000316891:p.Asp236Asn		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D77N	ENST00000313860.7	37	c.229	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261420	0.80358	0.0	1.16E-4	ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.09;0.49;0.48;0.49;-0.05;0.63;-0.06;-0.18;-0.1;-0.1;-0.18;-0.09	5.69	5.69	0.88448	.	0.043958	0.85682	D	0.000000	T	0.78773	0.4336	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.991;0.999;0.998;0.998;0.998;1.0;0.999;0.998;0.995;0.998;0.991	T	0.79614	-0.1730	10	0.87932	D	0	-21.6896	19.8155	0.96566	0.0:0.0:1.0:0.0	.	82;236;82;82;84;77;77;236;236;236;236	E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	N	77;77;236;236;236;236;236;77;77;77;76;89;82;84;82;82	ENSP00000425222:D77N;ENSP00000424825:D236N;ENSP00000424645:D236N;ENSP00000316891:D236N;ENSP00000427045:D236N;ENSP00000424437:D236N;ENSP00000425631:D77N;ENSP00000421242:D77N;ENSP00000426334:D89N;ENSP00000422864:D82N;ENSP00000379840:D82N;ENSP00000371172:D82N	ENSP00000316891:D236N	D	+	1	0	LIMCH1	41315985	1.000000	0.71417	0.983000	0.44433	0.079000	0.17450	9.476000	0.97823	2.691000	0.91804	0.563000	0.77884	GAC	LIMCH1	-	NULL	ENSG00000064042		0.502	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2		0	47	0	G	NM_014988		41621228	1			no_errors	ENST00000503057	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A	A	41621228	G	A	41621228	3	1	27	1	0	0	0	0	1	0	0	0	8826	1058	37	1	764	1	LIMCH1	4	41621228	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	2845689	41621228	149533048	12	6902											
FRYL	285527	genome.wustl.edu	37	chr4	48559130	48559130	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaccaggccagttcatcGccatactagatgcaatatgc	11	9	8	13	2	1	1	1	0	0	1	3	2	2	1	4	1	3	2	4	1	4	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:48559130G>T	ENST00000503238.1	-	32	4130	c.4131C>A	c.(4129-4131)ggC>ggA	p.G1377G	FRYL_ENST00000507711.1_Silent_p.G1377G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.G1377G|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.G1377G			O94915	FRYL_HUMAN	FRY-like	1377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCAGTTCATCGCCATACTAGA	0.383																																																	0													69	63	65					4																	48559130		1945	4142	6087	SO:0001819	synonymous_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4131C>A	4.37:g.48559130G>T			O95640|Q8WTZ5|Q9NT40	Silent	SNP	superfamily_ARM-type_fold	p.G1377	ENST00000503238.1	37	c.4131	CCDS43227.1	4																																																																																			FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.383	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	43	0	G			48559130	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.435	T	T	48559130	G	T	48559130	2	4	27	1	0	0	0	0	0	0	0	1	6088	1074	38	2		2	FRYL	4	48559130	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	6937902	48559130	142595146	13	6903											
PRKG2	5593	genome.wustl.edu	37	chr4	82065482	82065482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgacagtttggttgaatGttctaaatagatagaataaa	16	13	8	4	1	1	3	0	1	1	2	1	4	1	3	1	1	1	3	1	1	9	8			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:82065482G>T	ENST00000395578.1	-	10	1273	c.1157C>A	c.(1156-1158)aCa>aAa	p.T386K	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.T386K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.T386K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	386					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTGGTTGAATGTTCTAAATAG	0.373																																																	0													115	108	111					4																	82065482		2203	4300	6503	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1157C>A	4.37:g.82065482G>T	ENSP00000378945:p.Thr386Lys		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.T386K	ENST00000395578.1	37	c.1157	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736859	0.69304	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92446	-3.04;-3.04;-3.04	5.31	5.31	0.75309	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.048506	0.85682	D	0.000000	D	0.92374	0.7580	L	0.58969	1.84	0.80722	D	1	P;P	0.42993	0.797;0.697	P;B	0.47346	0.544;0.326	D	0.90322	0.4345	10	0.23891	T	0.37	-19.0653	18.9358	0.92584	0.0:0.0:1.0:0.0	.	386;386	E7EPE6;Q13237	.;KGP2_HUMAN	K	386	ENSP00000378945:T386K;ENSP00000264399:T386K;ENSP00000389038:T386K	ENSP00000264399:T386K	T	-	2	0	PRKG2	82284506	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	6.464000	0.73534	2.640000	0.89533	0.655000	0.94253	ACA	PRKG2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase	ENSG00000138669		0.373	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0	38	0	G	NM_006259		82065482	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	82065482	G	T	82065482	3	4	27	1	0	0	0	0	1	0	0	0	12565	1377	48	3	1171	3	PRKG2	4	82065482	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	33506352	82065482	109088794	14	6904											
DNAH5	1767	genome.wustl.edu	37	chr5	13928260	13928260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgtcggagacctccaaCagcaaaaagttgatcaattc	14	8	10	9	1	1	2	1	1	0	1	4	4	2	2	2	2	2	2	2	2	4	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:13928260C>G	ENST00000265104.4	-	3	324	c.220G>C	c.(220-222)Gtt>Ctt	p.V74L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	74	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGACCTCCAACAGCAAAAAGT	0.338									Kartagener syndrome																																								0													97	100	99					5																	13928260		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.220G>C	5.37:g.13928260C>G	ENSP00000265104:p.Val74Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V74L	ENST00000265104.4	37	c.220	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590662	0.46214	.	.	ENSG00000039139	ENST00000265104	T	0.22336	1.96	5.32	4.44	0.53790	.	0.630111	0.16544	N	0.209797	T	0.24736	0.0600	L	0.54323	1.7	0.28167	N	0.928736	B	0.06786	0.001	B	0.11329	0.006	T	0.12319	-1.0552	10	0.52906	T	0.07	.	15.7698	0.78157	0.0:0.7267:0.2733:0.0	.	74	Q8TE73	DYH5_HUMAN	L	74	ENSP00000265104:V74L	ENSP00000265104:V74L	V	-	1	0	DNAH5	13981260	0.001000	0.12720	0.749000	0.31150	0.933000	0.57130	1.280000	0.33202	1.360000	0.45960	0.655000	0.94253	GTT	DNAH5	-	NULL	ENSG00000039139		0.338	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	32	0	C	NM_001369		13928260	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.757	G	G	13928260	C	G	13928260	3	3	27	1	0	0	0	0	1	0	0	0	4618	478	17	5	13962	5	DNAH5	5	13928260	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		13928260	166987000	15	6905											
CDH10	1008	genome.wustl.edu	37	chr5	24593471	24593471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagaattttgccatcactCcttggtacacgtgaacttaa	11	13	8	9	1	1	2	1	1	0	1	2	3	2	2	2	2	3	1	2	2	4	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:24593471C>A	ENST00000264463.4	-	2	636	c.129G>T	c.(127-129)agG>agT	p.R43S	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	43					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCCATCACTCCTTGGTACAC	0.408										HNSCC(23;0.051)																																							0													133	127	129					5																	24593471		2203	4299	6502	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.129G>T	5.37:g.24593471C>A	ENSP00000264463:p.Arg43Ser		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R43S	ENST00000264463.4	37	c.129	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	4.760	0.141262	0.09083	.	.	ENSG00000040731	ENST00000264463	T	0.54279	0.58	4.37	-2.04	0.07343	.	0.623262	0.17011	N	0.190509	T	0.26376	0.0644	N	0.16790	0.44	0.23138	N	0.998234	B	0.02656	0.0	B	0.06405	0.002	T	0.20806	-1.0264	10	0.11794	T	0.64	.	6.1986	0.20563	0.1174:0.4586:0.0:0.424	.	43	Q9Y6N8	CAD10_HUMAN	S	43	ENSP00000264463:R43S	ENSP00000264463:R43S	R	-	3	2	CDH10	24629228	0.017000	0.18338	0.265000	0.24526	0.561000	0.35649	-0.969000	0.03813	-0.426000	0.07360	0.585000	0.79938	AGG	CDH10	-	NULL	ENSG00000040731		0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	48	0	C	NM_006727		24593471	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.856	A	A	24593471	C	A	24593471	3	1	27	1	0	0	0	0	1	0	0	0	3103	854	30	3	2281	3	CDH10	5	24593471	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	10665211	24593471	156321789	16	6906											
CDH9	1007	genome.wustl.edu	37	chr5	26881567	26881567	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctaagtttactgtcttctCttgcctctggattccttaat	6	19	6	10	0	4	0	0	0	4	0	6	1	5	1	2	1	2	1	2	1	3	7			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:26881567C>G	ENST00000231021.4	-	12	2220	c.2048G>C	c.(2047-2049)aGa>aCa	p.R683T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	683					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACTGTCTTCTCTTGCCTCTGG	0.438																																					Melanoma(8;187 585 15745 40864 52829)												0													194	188	190					5																	26881567		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2048G>C	5.37:g.26881567C>G	ENSP00000231021:p.Arg683Thr		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R683T	ENST00000231021.4	37	c.2048	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393529	0.25205	.	.	ENSG00000113100	ENST00000231021	T	0.75821	-0.97	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.103362	0.64402	D	0.000002	T	0.66208	0.2766	N	0.19112	0.55	0.44117	D	0.99689	B;B	0.29571	0.002;0.249	B;B	0.38755	0.01;0.281	T	0.61903	-0.6967	9	.	.	.	.	17.1426	0.86758	0.0:1.0:0.0:0.0	.	276;683	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	683	ENSP00000231021:R683T	.	R	-	2	0	CDH9	26917324	0.835000	0.29415	0.995000	0.50966	0.956000	0.61745	2.595000	0.46197	2.447000	0.82792	0.557000	0.71058	AGA	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	62	0	C	NM_016279		26881567	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	24.32	56	18	SNP	1.000	G	G	26881567	C	G	26881567	3	3	27	1	0	0	0	0	1	0	0	0	3124	913	32	5	325	5	CDH9	5	26881567	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	2288096	26881567	154033693	17	6907											
PDZD2	23037	genome.wustl.edu	37	chr5	32090983	32090983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacacgcagccctcgcccGtgtcccgctccaagctccag	6	5	9	21	4	0	0	0	0	0	0	4	0	3	0	6	0	2	3	6	0	1	0	rs370676238		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:32090983G>A	ENST00000438447.1	+	20	7817	c.7429G>A	c.(7429-7431)Gtg>Atg	p.V2477M	PDZD2_ENST00000282493.3_Missense_Mutation_p.V2477M			O15018	PDZD2_HUMAN	PDZ domain containing 2	2477					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCTCGCCCGTGTCCCGCTC	0.592																																																	0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	60	59	59		7429	-2.7	0	5		59	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	2477/2840	32090983	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7429G>A	5.37:g.32090983G>A	ENSP00000402033:p.Val2477Met		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V2477M	ENST00000438447.1	37	c.7429	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384252	0.42308	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08008	3.14;3.14	5.15	-2.68	0.06041	.	0.339903	0.21229	N	0.078019	T	0.06325	0.0163	L	0.36672	1.1	0.09310	N	0.999999	D	0.60160	0.987	B	0.43331	0.416	T	0.30475	-0.9977	10	0.41790	T	0.15	.	8.5719	0.33574	0.0:0.1835:0.1678:0.6487	.	2477	O15018	PDZD2_HUMAN	M	2477;2278;2477	ENSP00000402033:V2477M;ENSP00000282493:V2477M	ENSP00000282493:V2477M	V	+	1	0	PDZD2	32126740	0.000000	0.05858	0.001000	0.08648	0.547000	0.35210	-1.490000	0.02304	-0.648000	0.05437	0.561000	0.74099	GTG	PDZD2	-	NULL	ENSG00000133401		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	30	0	G			32090983	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.008	A	A	32090983	G	A	32090983	3	1	27	1	0	0	0	0	1	0	0	0	11740	1145	40	1	7503	1	PDZD2	5	32090983	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	5209416	32090983	148824277	18	6908											
RAB3C	115827	genome.wustl.edu	37	chr5	57913496	57913496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccaagatgccaggtaCggccagaaagactcctctga	11	7	10	13	1	2	4	0	1	2	3	3	4	3	4	4	2	3	1	4	2	3	1	rs554866418		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:57913496C>T	ENST00000282878.4	+	2	220	c.51C>T	c.(49-51)taC>taT	p.Y17Y		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	17					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.Y17Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		ATGCCAGGTACGGCCAGAAAG	0.403													T|||	1	0.000199681	0	0	5008	,	,		20678	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	large_intestine(1)											73	69	70					5																	57913496		2203	4300	6503	SO:0001819	synonymous_variant	0			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.51C>T	5.37:g.57913496C>T				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y17	ENST00000282878.4	37	c.51	CCDS3976.1	5																																																																																			RAB3C	-	NULL	ENSG00000152932		0.403	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	-	0	29	0	C	NM_138453		57913496	1	tier1	-	no_errors	ENST00000282878	ensembl	human	known	74_37	silent	44.83	16	13	SNP	0.999	T	T	57913496	C	T	57913496	2	4	27	1	0	0	0	0	0	0	0	1	12978	547	19	1		1	RAB3C	5	57913496	Silent	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	25822513	57913496	123001764	19	6909											
CMYA5	202333	genome.wustl.edu	37	chr5	79024876	79024876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtagatcttctactccttgGgcttcagaagaaagtcagac	12	11	9	9	0	4	4	2	0	2	4	5	4	5	4	1	1	1	2	1	1	4	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:79024876G>T	ENST00000446378.2	+	2	319	c.288G>T	c.(286-288)tgG>tgT	p.W96C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	96					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTACTCCTTGGGCTTCAGAAG	0.433																																																	0													251	245	247					5																	79024876		1869	4108	5977	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.288G>T	5.37:g.79024876G>T	ENSP00000394770:p.Trp96Cys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.W96C	ENST00000446378.2	37	c.288	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954990	0.73902	.	.	ENSG00000164309	ENST00000446378	T	0.79141	-1.24	5.41	5.41	0.78517	.	0.147317	0.32301	N	0.006291	D	0.84197	0.5419	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.85787	0.1365	10	0.87932	D	0	.	19.2111	0.93755	0.0:0.0:1.0:0.0	.	96	Q8N3K9	CMYA5_HUMAN	C	96	ENSP00000394770:W96C	ENSP00000394770:W96C	W	+	3	0	CMYA5	79060632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.864000	0.92294	2.532000	0.85374	0.655000	0.94253	TGG	CMYA5	-	NULL	ENSG00000164309		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0	60	0	G	NM_153610		79024876	1			no_errors	ENST00000446378	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	79024876	G	T	79024876	3	4	27	1	0	0	0	0	1	0	0	0	3597	1241	43	3	294	3	CMYA5	5	79024876	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	21111380	79024876	101890384	20	6910											
FAM172A	83989	genome.wustl.edu	37	chr5	93388885	93388885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcaggaaaatcaagaggcgGttcatcttttttcattagtt	12	15	8	6	1	5	1	4	0	1	1	5	2	5	2	0	3	0	2	0	3	4	6			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:93388885G>T	ENST00000395965.3	-	3	296	c.154C>A	c.(154-156)Ccg>Acg	p.P52T	FAM172A_ENST00000509739.1_Missense_Mutation_p.N2K|FAM172A_ENST00000509163.1_Missense_Mutation_p.P6T|FAM172A_ENST00000505869.1_Missense_Mutation_p.P6T|FAM172A_ENST00000504768.2_5'UTR	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	52						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCAAGAGGCGGTTCATCTTTT	0.284																																																	0													60	67	65					5																	93388885		2200	4280	6480	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.154C>A	5.37:g.93388885G>T	ENSP00000379294:p.Pro52Thr		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.P52T	ENST00000395965.3	37	c.154	CCDS4069.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.782183|2.782183	0.49891|0.49891	.|.	.|.	ENSG00000113391|ENSG00000113391	ENST00000509739|ENST00000395965;ENST00000505869;ENST00000509163	.|T;T	.|0.46063	.|0.88;0.93	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59459|0.59459	0.2195|0.2195	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999992|0.999992	B;P|D;D;D	0.38504|0.89917	0.328;0.634|1.0;1.0;1.0	B;B|D;D;D	0.34242|0.91635	0.178;0.178|0.998;0.996;0.999	T|T	0.49762|0.49762	-0.8905|-0.8905	8|10	0.87932|0.09843	D|T	0|0.71	-11.7554|-11.7554	18.7286|18.7286	0.91724|0.91724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2;2|6;52;52	B4DKR7;B4DMI0|B4DJ14;Q8WUF8;Q8WUF8-2	.;.|.;F172A_HUMAN;.	K|T	2|52;6;6	.|ENSP00000379294:P52T;ENSP00000423841:P6T	ENSP00000424097:N2K|ENSP00000379294:P52T	N|P	-|-	3|1	2|0	FAM172A|FAM172A	93414641|93414641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.936000|8.936000	0.92931|0.92931	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	AAC|CCG	FAM172A	-	NULL	ENSG00000113391		0.284	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	-	0	78	0	G	NM_032042		93388885	-1	tier1	-	no_errors	ENST00000395965	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	93388885	G	T	93388885	3	4	27	1	0	0	0	0	1	0	0	0	5511	1261	44	3	1132	3	FAM172A	5	93388885	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	14364009	93388885	87526375	21	6911											
IL3	3562	genome.wustl.edu	37	chr5	131398418	131398418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattccggaggaaactgacGttctatctgaaaacccttga	13	10	9	9	2	2	3	0	3	2	0	3	6	3	5	2	2	2	1	2	2	5	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:131398418G>A	ENST00000296870.2	+	5	571	c.393G>A	c.(391-393)acG>acA	p.T131T		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	131					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GGAAACTGACGTTCTATCTGA	0.493											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118	118	118					5																	131398418		2203	4300	6503	SO:0001819	synonymous_variant	0			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.393G>A	5.37:g.131398418G>A		1587	Q6GS87	Silent	SNP	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	p.T131	ENST00000296870.2	37	c.393	CCDS4149.1	5																																																																																			IL3	-	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	ENSG00000164399		0.493	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3	HGNC	protein_coding	OTTHUMT00000132639.1	-	0	42	0	G	NM_000588		131398418	1	tier1	-	no_errors	ENST00000296870	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.000	A	A	131398418	G	A	131398418	2	1	27	1	0	0	0	0	0	0	0	1	7716	1132	40	1		1	IL3	5	131398418	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	38009533	131398418	49516842	22	6912											
SLC36A3	285641	genome.wustl.edu	37	chr5	150660711	150660711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcataggtgaagaagatgccGatagagtacatcagcttgac	14	8	12	7	1	1	5	1	2	0	3	1	6	1	5	1	1	3	3	1	1	5	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:150660711G>A	ENST00000335230.3	-	9	1419	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	SLC36A3_ENST00000377713.3_Silent_p.I377I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	336						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGATGCCGATAGAGTACA	0.517																																																	0													223	171	189					5																	150660711		2203	4300	6503	SO:0001819	synonymous_variant	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1008C>T	5.37:g.150660711G>A			Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	pfam_AA_transpt_TM	p.I377	ENST00000335230.3	37	c.1131	CCDS4314.1	5																																																																																			SLC36A3	-	pfam_AA_transpt_TM	ENSG00000186334		0.517	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1	-	0	47	0	G	NM_181774		150660711	-1	tier1	-	no_errors	ENST00000377713	ensembl	human	known	74_37	silent	17.46	52	11	SNP	0.005	A	A	150660711	G	A	150660711	2	1	27	1	0	0	0	0	0	0	0	1	14640	1048	37	1		1	SLC36A3	5	150660711	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	19262293	150660711	30254549	23	6913											
GRM6	2916	genome.wustl.edu	37	chr5	178408747	178408747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcgcttctgcacattctGctctggatggaagaggatga	8	13	11	9	1	3	2	0	1	3	1	4	5	3	5	0	3	2	3	0	3	1	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:178408747G>T	ENST00000517717.1	-	11	2583	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.Q849K			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	849					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCACATTCTGCTCTGGATGG	0.607																																																	0													147	139	142					5																	178408747		2203	4300	6503	SO:0001583	missense	0			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2545C>A	5.37:g.178408747G>T	ENSP00000430767:p.Gln849Lys			Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.Q849K	ENST00000517717.1	37	c.2545	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989153	0.18966	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.87029	-2.2;-2.2	5.47	5.47	0.80525	GPCR, family 3, C-terminal (1);	.	.	.	.	T	0.77731	0.4174	N	0.19112	0.55	0.44976	D	0.997992	B;B	0.17852	0.007;0.024	B;B	0.16722	0.007;0.016	T	0.71563	-0.4555	9	0.07030	T	0.85	.	17.1931	0.86886	0.0:0.0:1.0:0.0	.	849;143	O15303;Q5HYM4	GRM6_HUMAN;.	K	849	ENSP00000231188:Q849K;ENSP00000430767:Q849K	ENSP00000231188:Q849K	Q	-	1	0	GRM6	178341353	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	5.453000	0.66645	2.745000	0.94114	0.462000	0.41574	CAG	GRM6	-	pfscan_GPCR_3_C	ENSG00000113262		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	-	0	75	0	G			178408747	-1	tier1	-	no_errors	ENST00000231188	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	T	T	178408747	G	T	178408747	3	4	27	1	0	0	0	0	1	0	0	0	6828	1328	46	3	92	3	GRM6	5	178408747	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	27748036	178408747	2506513	24	6914											
SRPK1	6732	genome.wustl.edu	37	chr6	35837431	35837434	+	Frame_Shift_Del	DEL	AGAG	AGAG	-																															tcagatgttataggtgtacaAgagtctgtttcttgagatgt																										TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	AGAG	AGAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:35837431_35837434delAGAG	ENST00000373825.2	-	11	1521_1524	c.1236_1239delCTCT	c.(1234-1239)gactctfs	p.DS412fs	SRPK1_ENST00000373822.1_Frame_Shift_Del_p.DS305fs|SRPK1_ENST00000423325.2_Frame_Shift_Del_p.DS396fs					SRSF protein kinase 1									p.S413Y(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TAGGTGTACAAGAGTCTGTTTCTT	0.417																																					NSCLC(31;67 978 16289 24856 26454)												1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1236_1239delCTCT	6.37:g.35837431_35837434delAGAG	ENSP00000362931:p.Asp412fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S413fs	ENST00000373825.2	37	c.1239_1236	CCDS47415.1	6																																																																																			SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000096063		0.417	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3		0	98	0	AGAG	NM_003137		35837434	-1	tier1		no_errors	ENST00000373825	ensembl	human	known	74_37	frame_shift_del	23.75	61	19	DEL	1.000:1.000:1.000:1.000	-	-	35837434	AGAG	-	35837431	7	5	27	1	0	1	0	1	0	0	0	0	15206	59	3	0	752	0	SRPK1	6	35837431	Frame_Shift_Del	DEL	AGAG	TCGA-IG-A5S3-01A-11D-A28B-09		35837431	135277636	25	6915											
EYS	346007	genome.wustl.edu	37	chr6	66005908	66005908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctacagttacaattgtgcGaaagggccaggcagaggcca	12	6	13	10	2	0	1	0	0	0	1	0	2	0	1	2	3	3	3	2	3	4	3	rs548565748		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:66005908G>A	ENST00000370621.3	-	12	2397	c.1871C>T	c.(1870-1872)tCg>tTg	p.S624L	EYS_ENST00000370616.2_Missense_Mutation_p.S624L|EYS_ENST00000503581.1_Missense_Mutation_p.S624L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	624					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAATTGTGCGAAAGGGCCAG	0.433													G|||	1	0.000199681	0	0	5008	,	,		13324	0		0	False		,,,				2504	0.001																0													142	111	120					6																	66005908		692	1591	2283	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1871C>T	6.37:g.66005908G>A	ENSP00000359655:p.Ser624Leu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S624L	ENST00000370621.3	37	c.1871		6	.	.	.	.	.	.	.	.	.	.	.	4.454	0.084011	0.08583	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.80824	-1.42;-1.42;-1.42	5.48	1.33	0.21861	.	.	.	.	.	T	0.25938	0.0632	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36311	-0.9753	9	0.07325	T	0.83	.	6.2659	0.20925	0.6132:0.3054:0.0815:0.0	.	624	Q5T1H1-1	.	L	624	ENSP00000424243:S624L;ENSP00000359655:S624L;ENSP00000359650:S624L	ENSP00000359650:S624L	S	-	2	0	EYS	66062629	0.917000	0.31117	0.002000	0.10522	0.007000	0.05969	2.092000	0.41700	0.027000	0.15297	-0.423000	0.05987	TCG	EYS	-	NULL	ENSG00000188107		0.433	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	55	0	G	XM_294050		66005908	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.041	A	A	66005908	G	A	66005908	3	1	27	1	0	0	0	0	1	0	0	0	5348	1059	37	1	7536	1	EYS	6	66005908	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	30168477	66005908	105109159	26	6916											
HBS1L	10767	genome.wustl.edu	37	chr6	135357717	135357717	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattctctagtaaatgctttTttttgattagcttttacaat	10	22	4	5	0	1	1	0	1	1	0	2	1	1	1	0	0	3	3	0	0	7	11			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:135357717T>C	ENST00000367837.5	-	4	637				HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367822.5_Silent_p.K626K|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000445176.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TAAATGCTTTTTTTTGATTAG	0.299																																																	0													33	25	27					6																	135357717		692	1591	2283	SO:0001627	intron_variant	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2993A>G	6.37:g.135357717T>C			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	pfam_HBS1-like_N	p.K626	ENST00000367837.5	37	c.1878	CCDS5173.1	6																																																																																			HBS1L	-	NULL	ENSG00000112339		0.299	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2		0	14	0	T			135357717	-1			no_errors	ENST00000367822	ensembl	human	known	74_37	silent	66.67	2	4	SNP	1.000	C	C	135357717	T	C	135357717	1	2	27	0	1	0	0	0	0	0	0	0	7014	1838	64	4		4	HBS1L	6	135357717	Intron	SNP	T	TCGA-IG-A5S3-01A-11D-A28B-09	69351809	135357717	35757350	27	6917											
PLG	5340	genome.wustl.edu	37	chr6	161139850	161139850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctccccagtatccaCggaacaattggctcccacag	10	8	7	16	1	0	1	0	1	0	0	4	2	4	2	5	2	1	2	5	2	3	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:161139850C>T	ENST00000308192.9	+	9	1139	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	359					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAGTATCCACGGAACAATTG	0.498																																																	0													79	75	76					6																	161139850		2203	4300	6503	SO:0001583	missense	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1076C>T	6.37:g.161139850C>T	ENSP00000308938:p.Thr359Met		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1	p.T359M	ENST00000308192.9	37	c.1076	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915056	0.17907	.	.	ENSG00000122194	ENST00000308192	D	0.88431	-2.38	5.4	2.61	0.31194	Kringle-like fold (1);	0.398742	0.17761	U	0.162913	T	0.66197	0.2765	N	0.25485	0.75	0.09310	N	1	B	0.31100	0.308	B	0.23419	0.046	T	0.57997	-0.7714	10	0.42905	T	0.14	.	9.084	0.36570	0.0:0.7587:0.0:0.2413	.	359	P00747	PLMN_HUMAN	M	359	ENSP00000308938:T359M	ENSP00000308938:T359M	T	+	2	0	PLG	161059840	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.016000	0.12613	0.840000	0.34995	-0.253000	0.11424	ACG	PLG	-	pirsf_Pept_S1A_plasmin,superfamily_Kringle-like	ENSG00000122194		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	-	0	56	0	C	NM_000301		161139850	1	tier1	-	no_errors	ENST00000308192	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.000	T	T	161139850	C	T	161139850	3	4	27	1	0	0	0	0	1	0	0	0	12125	536	19	1	1114	1	PLG	6	161139850	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	25782133	161139850	9975217	28	6918											
EGFR	1956	genome.wustl.edu	37	chr7	55273280	55273280	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatacctaagggtcgcGccacaaagcagtgaatttat	14	8	10	9	2	0	2	0	1	0	1	1	2	0	2	2	1	2	2	2	1	6	4	rs202156403		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:55273280G>A	ENST00000275493.2	+	28	3780	c.3603G>A	c.(3601-3603)gcG>gcA	p.A1201A	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.A1148A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1201					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A1201A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAAGGGTCGCGCCACAAAGCA	0.498		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	1	Substitution - coding silent(1)	ovary(1)											62	60	61					7																	55273280		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3603G>A	7.37:g.55273280G>A			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A1201	ENST00000275493.2	37	c.3603	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000146648		0.498	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0	41	0	G	NM_005228		55273280	1	tier1	rs202156403	no_errors	ENST00000275493	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.241	A	A	55273280	G	A	55273280	2	1	27	1	0	0	0	0	0	0	0	1	4981	1074	38	1		1	EGFR	7	55273280	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		55273280	103865383	29	6919											
ZNF804B	219578	genome.wustl.edu	37	chr7	88962883	88962883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaattacaatcagacaggcGttgtttgtttggaaatcagg	12	12	10	7	1	2	1	2	0	0	1	2	2	2	2	1	3	1	3	1	3	4	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:88962883G>A	ENST00000333190.4	+	4	1196	c.587G>A	c.(586-588)cGt>cAt	p.R196H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	196							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAGACAGGCGTTGTTTGTTT	0.403										HNSCC(36;0.09)																																							0													104	101	102					7																	88962883		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.587G>A	7.37:g.88962883G>A	ENSP00000329638:p.Arg196His		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.R196H	ENST00000333190.4	37	c.587	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	2.002	-0.429225	0.04701	.	.	ENSG00000182348	ENST00000333190	T	0.04809	3.55	5.24	-1.47	0.08772	.	0.722275	0.13096	N	0.414180	T	0.01523	0.0049	N	0.02539	-0.55	0.09310	N	0.999991	B	0.09022	0.002	B	0.04013	0.001	T	0.48115	-0.9063	10	0.10636	T	0.68	-0.4311	4.7335	0.12977	0.4322:0.0:0.3214:0.2464	.	196	A4D1E1	Z804B_HUMAN	H	196	ENSP00000329638:R196H	ENSP00000329638:R196H	R	+	2	0	ZNF804B	88800819	0.000000	0.05858	0.006000	0.13384	0.645000	0.38454	-0.051000	0.11885	-0.152000	0.11156	-0.142000	0.14014	CGT	ZNF804B	-	NULL	ENSG00000182348		0.403	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	20	0	G	NM_181646		88962883	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.077	A	A	88962883	G	A	88962883	3	1	27	1	0	0	0	0	1	0	0	0	18219	1145	40	1	601	1	ZNF804B	7	88962883	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	33689603	88962883	70175780	30	6920											
CPA1	1357	genome.wustl.edu	37	chr7	130021558	130021558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaggcggtcaagatctttCtggagtcccacggcatcagc	8	9	11	13	2	4	1	2	0	2	1	6	2	6	2	2	4	1	1	2	4	1	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:130021558C>G	ENST00000011292.3	+	3	385	c.235C>G	c.(235-237)Ctg>Gtg	p.L79V	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	79					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAAGATCTTTCTGGAGTCCCA	0.652											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	57	62					7																	130021558		2203	4300	6503	SO:0001583	missense	0				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase A"	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.235C>G	7.37:g.130021558C>G	ENSP00000011292:p.Leu79Val	1576	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.L79V	ENST00000011292.3	37	c.235	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436436	0.43224	.	.	ENSG00000091704	ENST00000011292	T	0.33654	1.4	5.19	3.36	0.38483	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61013	-0.7148	10	0.72032	D	0.01	.	8.6919	0.34271	0.0:0.821:0.0:0.179	.	79	P15085	CBPA1_HUMAN	V	79	ENSP00000011292:L79V	ENSP00000011292:L79V	L	+	1	2	CPA1	129808794	1.000000	0.71417	0.996000	0.52242	0.065000	0.16274	1.450000	0.35134	0.565000	0.29255	0.561000	0.74099	CTG	CPA1	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000091704		0.652	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	-	0	76	0	C	NM_001868		130021558	1	tier1	-	no_errors	ENST00000011292	ensembl	human	known	74_37	missense	30.00	49	21	SNP	1.000	G	G	130021558	C	G	130021558	3	3	27	1	0	0	0	0	1	0	0	0	3796	912	32	5	245	5	CPA1	7	130021558	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	41058675	130021558	29117105	31	6921											
ARHGEF5	7984	genome.wustl.edu	37	chr7	144062632	144062632	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaggatgaagcaggggtctCagaacaccctgaggcccctg	11	6	13	11	0	1	3	1	2	1	1	2	4	1	4	3	4	2	1	3	4	3	1	rs202036368		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:144062632C>G	ENST00000056217.5	+	2	3044	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	957					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCAGGGGTCTCAGAACACCCT	0.597																																																	0													2	2	2					7																	144062632		723	1763	2486	SO:0001587	stop_gained	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2870C>G	7.37:g.144062632C>G	ENSP00000056217:p.Ser957*		A6NNJ2|Q6ZML7	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S957*	ENST00000056217.5	37	c.2870	CCDS34771.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.577225|6.577225	0.97676|0.97676	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|.	.|.	.|.	4.06|4.06	2.22|2.22	0.28083|0.28083	.|.	.|0.258318	.|0.20430	.|N	.|0.092497	T|.	0.37237|.	0.0996|.	.|.	.|.	.|.	0.21020|0.21020	N|N	0.99981|0.99981	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20940|.	-1.0260|.	4|.	.|0.48119	.|T	.|0.1	-0.0888|-0.0888	6.3968|6.3968	0.21616|0.21616	0.0:0.7685:0.0:0.2315|0.0:0.7685:0.0:0.2315	.|.	.|.	.|.	.|.	E|X	211|957	.|.	.|ENSP00000056217:S957X	Q|S	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693565|143693565	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.795000|0.795000	0.26972|0.26972	0.369000|0.369000	0.24510|0.24510	0.555000|0.555000	0.69702|0.69702	CAG|TCA	ARHGEF5	-	NULL	ENSG00000050327		0.597	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	-	0	17	0	C	NM_005435		144062632	1	tier1	rs202036368	no_errors	ENST00000056217	ensembl	human	known	74_37	nonsense	23.53	13	4	SNP	0.005	G	G	144062632	C	G	144062632	4	3	27	1	0	0	0	0	0	1	0	0	909	838	29	5	2872	5	ARHGEF5	7	144062632	Nonsense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	14041074	144062632	15076031	32	6922											
ZNF775	285971	genome.wustl.edu	37	chr7	150095050	150095050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctgacgcggcaccggcGcaaccacacaggcgagcggc	10	1	13	17	6	0	1	0	1	0	0	0	2	0	1	3	4	3	2	3	4	2	0			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:150095050G>T	ENST00000329630.5	+	3	1588	c.1481G>T	c.(1480-1482)cGc>cTc	p.R494L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCACCGGCGCAACCACACA	0.721																																																	0													12	14	13					7																	150095050		2172	4256	6428	SO:0001583	missense	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1481G>T	7.37:g.150095050G>T	ENSP00000330838:p.Arg494Leu		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R494L	ENST00000329630.5	37	c.1481	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837811	0.71373	.	.	ENSG00000196456	ENST00000329630	T	0.25085	1.82	3.95	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36690	0.0976	N	0.26162	0.8	0.29466	N	0.857431	D	0.89917	1.0	D	0.85130	0.997	T	0.14392	-1.0474	8	.	.	.	.	13.5558	0.61759	0.0:0.0:1.0:0.0	.	494	Q96BV0	ZN775_HUMAN	L	494	ENSP00000330838:R494L	.	R	+	2	0	ZNF775	149725983	0.049000	0.20398	1.000000	0.80357	0.980000	0.70556	2.240000	0.43088	2.044000	0.60594	0.563000	0.77884	CGC	ZNF775	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196456		0.721	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	-	0	29	0	G	NM_173680		150095050	1	tier1	-	no_errors	ENST00000329630	ensembl	human	known	74_37	missense	60.00	12	18	SNP	1.000	T	T	150095050	G	T	150095050	3	4	27	1	0	0	0	0	1	0	0	0	18196	1087	38	2	1487	2	ZNF775	7	150095050	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	6032418	150095050	9043613	33	6923											
ADAM28	10863	genome.wustl.edu	37	chr8	24193159	24193159	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagctgtggggaccaggtagGaggacaaatcctttcccctg	9	8	14	10	0	0	0	0	0	0	0	2	4	2	3	4	5	1	2	4	5	2	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:24193159G>A	ENST00000265769.4	+	14	1677				ADAM28_ENST00000437154.2_Silent_p.R524R|ADAM28_ENST00000397649.3_Intron|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Silent_p.R291R|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GACCAGGTAGGAGGACAAATC	0.512																																					NSCLC(193;488 2149 22258 34798 40734)												0													76	71	72					8																	24193159		2203	4300	6503	SO:0001627	intron_variant	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1567+5G>A	8.37:g.24193159G>A			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R524	ENST00000265769.4	37	c.1572	CCDS34865.1	8																																																																																			ADAM28	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000042980		0.512	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	-	0	85	0	G	NM_021778		24193159	1	tier1	-	no_errors	ENST00000437154	ensembl	human	known	74_37	silent	65.22	32	60	SNP	0.998	A	A	24193159	G	A	24193159	1	1	27	0	1	0	0	0	0	0	0	0	246	1165	41	3		3	ADAM28	8	24193159	Intron	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		24193159	122170863	34	6924											
CSPP1	79848	genome.wustl.edu	37	chr8	67986506	67986506	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggctgataatttggatGaatttattgaagagcaaaaa	18	12	9	2	0	0	4	0	3	0	1	0	5	0	5	0	2	1	2	0	2	7	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:67986506G>T	ENST00000262210.5	+	2	158	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	43					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATTTGGATGAATTTATTGA	0.318																																																	0													82	86	85					8																	67986506		1804	4069	5873	SO:0001587	stop_gained	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.127G>T	8.37:g.67986506G>T	ENSP00000262210:p.Glu43*		A6ND63|Q70F00|Q8TBC1	Nonsense_Mutation	SNP	NULL	p.E43*	ENST00000262210.5	37	c.127	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929270	0.73327	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	.	.	.	5.4	1.16	0.20824	.	0.249218	0.18598	U	0.136540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-6.2003	5.6959	0.17855	0.3534:0.271:0.3756:0.0	.	.	.	.	X	7;43;43	.	ENSP00000262210:E43X	E	+	1	0	CSPP1	68149060	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.180000	0.32005	0.358000	0.24211	-0.251000	0.11542	GAA	CSPP1	-	NULL	ENSG00000104218		0.318	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1		0	40	0	G	NM_024790		67986506	1			no_errors	ENST00000262210	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.998	T	T	67986506	G	T	67986506	4	4	27	1	0	0	0	0	0	1	0	0	3971	1291	45	3	133	3	CSPP1	8	67986506	Nonsense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	43793347	67986506	78377516	35	6925											
HNF4G	3174	genome.wustl.edu	37	chr8	76471212	76471212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgattgagcaaatacagTttgttaaactttttgggatg	14	15	9	3	0	0	2	0	2	0	0	0	3	0	3	0	1	3	3	0	1	5	6			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:76471212T>C	ENST00000354370.1	+	9	1192	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	HNF4G_ENST00000396423.2_Missense_Mutation_p.F345L			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	308					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAAATACAGTTTGTTAAACT	0.408																																																	0													88	88	88					8																	76471212		2203	4300	6503	SO:0001583	missense	0				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.922T>C	8.37:g.76471212T>C	ENSP00000346339:p.Phe308Leu		Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.F345L	ENST00000354370.1	37	c.1033		8	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783868	0.49891	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.95447	-3.71;-3.71	5.52	4.37	0.52481	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.092607	0.85682	D	0.000000	D	0.93520	0.7932	M	0.70787	2.145	0.46798	D	0.999207	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.008	D	0.90962	0.4813	10	0.44086	T	0.13	.	9.839	0.40987	0.0:0.1359:0.0:0.8641	.	345;308	F1D8Q4;Q14541	.;HNF4G_HUMAN	L	308;345	ENSP00000346339:F308L;ENSP00000379701:F345L	ENSP00000346339:F308L	F	+	1	0	HNF4G	76633767	1.000000	0.71417	0.897000	0.35233	0.957000	0.61999	3.482000	0.53186	2.093000	0.63338	0.533000	0.62120	TTT	HNF4G	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000164749		0.408	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	HNF4G	HGNC	protein_coding	OTTHUMT00000313914.2	-	0	47	0	T	NM_004133		76471212	1	tier1	-	no_errors	ENST00000396423	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C	C	76471212	T	C	76471212	3	2	27	1	0	0	0	0	1	0	0	0	7281	1725	60	4	1063	4	HNF4G	8	76471212	Missense_Mutation	SNP	T	TCGA-IG-A5S3-01A-11D-A28B-09	8484706	76471212	69892810	36	6926											
ZFHX4	79776	genome.wustl.edu	37	chr8	77775833	77775833	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtctgtggcatggagAgcctctttccttatggccct	5	13	10	13	0	2	1	0	0	2	1	3	2	3	1	4	3	1	1	4	3	1	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:77775833A>G	ENST00000521891.2	+	11	10331	c.9883A>G	c.(9883-9885)Agc>Ggc	p.S3295G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3269G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3246G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3250G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3246					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGCATGGAGAGCCTCTTTCC	0.532										HNSCC(33;0.089)																																							0													62	62	62					8																	77775833		1912	4115	6027	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9883A>G	8.37:g.77775833A>G	ENSP00000430497:p.Ser3295Gly		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S3295G	ENST00000521891.2	37	c.9883	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636264	0.47049	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.77;0.82;0.76;0.78	5.03	5.03	0.67393	.	0.000000	0.52532	U	0.000061	T	0.33000	0.0848	L	0.31420	0.93	0.51767	D	0.999936	P	0.49559	0.925	B	0.41271	0.352	T	0.18808	-1.0325	10	0.06236	T	0.91	.	14.9381	0.70973	1.0:0.0:0.0:0.0	.	3250	Q86UP3-4	.	G	3295;3279;3250;3246;3269	ENSP00000430497:S3295G;ENSP00000399605:S3250G;ENSP00000050961:S3246G;ENSP00000430848:S3269G	ENSP00000050961:S3246G	S	+	1	0	ZFHX4	77938388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.031000	0.93731	2.131000	0.65755	0.533000	0.62120	AGC	ZFHX4	-	NULL	ENSG00000091656		0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0	35	0	A	NM_024721		77775833	1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	G	G	77775833	A	G	77775833	3	3	27	1	0	0	0	0	1	0	0	0	17683	304	11	4	9921	4	ZFHX4	8	77775833	Missense_Mutation	SNP	A	TCGA-IG-A5S3-01A-11D-A28B-09	1304621	77775833	68588189	37	6927											
KIAA2026	158358	genome.wustl.edu	37	chr9	5922719	5922719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gattttttctcctgttttagGatccaccataggctgcacct	7	16	7	11	0	1	0	0	0	1	0	3	2	2	1	4	2	1	3	4	2	2	6			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:5922719G>A	ENST00000399933.3	-	8	3276	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1063S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1093										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCTGTTTTAGGATCCACCATA	0.403																																																	0													128	119	122					9																	5922719		1855	4100	5955	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3277C>T	9.37:g.5922719G>A	ENSP00000382815:p.Pro1093Ser		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.P1093S	ENST00000399933.3	37	c.3277		9	.	.	.	.	.	.	.	.	.	.	G	1.593	-0.528664	0.04112	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.47	1.47	0.22746	.	0.298355	0.28688	N	0.014470	T	0.15478	0.0373	N	0.19112	0.55	0.21473	N	0.999678	B	0.15473	0.013	B	0.12156	0.007	T	0.19976	-1.0289	9	0.09338	T	0.73	-3.2187	1.7793	0.03028	0.2791:0.1294:0.4586:0.1329	.	1093	Q5HYC2	K2026_HUMAN	S	1093;1063	.	ENSP00000370870:P1063S	P	-	1	0	KIAA2026	5912719	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	1.671000	0.37513	0.004000	0.14682	0.561000	0.74099	CCT	KIAA2026	-	NULL	ENSG00000183354		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0	50	0	G	NM_001017969		5922719	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	36.59	26	15	SNP	0.999	A	A	5922719	G	A	5922719	3	1	27	1	0	0	0	0	1	0	0	0	8297	1174	41	3	3038	3	KIAA2026	9	5922719	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		5922719	135290712	38	6928											
PTPRD	5789	genome.wustl.edu	37	chr9	8486299	8486299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagggtgccactgaataaGagcagtattcatctgagtgt	11	10	13	7	1	2	3	1	2	1	1	2	4	2	4	1	2	2	2	1	2	3	3	rs142009246	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:8486299G>T	ENST00000381196.4	-	25	3061	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I	PTPRD_ENST00000356435.5_Missense_Mutation_p.L840I|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L827I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L818I|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L840I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	840	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTGAATAAGAGCAGTATTC	0.488										TSP Lung(15;0.13)																																							0													75	73	74					9																	8486299		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2518C>A	9.37:g.8486299G>T	ENSP00000370593:p.Leu840Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.L840I	ENST00000381196.4	37	c.2518	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601793	0.46423	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.61703	1.905	0.80722	D	1	B;D;B	0.76494	0.292;0.999;0.359	B;D;B	0.80764	0.101;0.994;0.192	T	0.67681	-0.5608	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	827;840;840	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	840;840;827;818;840	ENSP00000370593:L840I;ENSP00000348812:L840I;ENSP00000353187:L827I;ENSP00000351293:L818I;ENSP00000438164:L840I	.	L	-	1	0	PTPRD	8476299	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.297000	0.72757	2.826000	0.97356	0.655000	0.94253	CTT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	59	0	G			8486299	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	T	T	8486299	G	T	8486299	3	4	27	1	0	0	0	0	1	0	0	0	12844	942	33	3	3364	3	PTPRD	9	8486299	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	2563580	8486299	132727132	39	6929											
FAM154A	158297	genome.wustl.edu	37	chr9	18928750	18928750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaggccccggtaggatTgtttttgagtggtaaggctt	7	13	13	8	1	1	1	1	1	0	0	1	2	1	2	3	5	0	4	3	5	2	6			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:18928750T>A	ENST00000380534.4	-	4	1004	c.725A>T	c.(724-726)cAa>cTa	p.Q242L	FAM154A_ENST00000542071.1_Missense_Mutation_p.Q50L|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	242										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCGGTAGGATTGTTTTTGAGT	0.537																																																	0													66	73	70					9																	18928750		2203	4300	6503	SO:0001583	missense	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.725A>T	9.37:g.18928750T>A	ENSP00000369907:p.Gln242Leu		Q5VY58	Missense_Mutation	SNP	NULL	p.Q242L	ENST00000380534.4	37	c.725	CCDS6487.1	9	.	.	.	.	.	.	.	.	.	.	T	0.287	-0.982743	0.02180	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.16324	2.35;2.35	5.09	5.09	0.68999	.	0.444894	0.21340	N	0.076145	T	0.11793	0.0287	N	0.17474	0.49	0.09310	N	1	B	0.29212	0.237	B	0.34590	0.186	T	0.27571	-1.0070	10	0.27082	T	0.32	-4.9202	9.8048	0.40786	0.154:0.0:0.0:0.846	.	242	Q8IYX7	F154A_HUMAN	L	242;50	ENSP00000369907:Q242L;ENSP00000438823:Q50L	ENSP00000369907:Q242L	Q	-	2	0	FAM154A	18918750	0.335000	0.24748	0.574000	0.28523	0.128000	0.20619	2.293000	0.43558	2.133000	0.65898	0.528000	0.53228	CAA	FAM154A	-	NULL	ENSG00000155875		0.537	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	-	0	92	0	T	NM_153707		18928750	-1	tier1	-	no_errors	ENST00000380534	ensembl	human	known	74_37	missense	7.29	89	7	SNP	0.064	A	A	18928750	T	A	18928750	3	1	27	1	0	0	0	0	1	0	0	0	5482	1812	63	5	703	5	FAM154A	9	18928750	Missense_Mutation	SNP	T	TCGA-IG-A5S3-01A-11D-A28B-09	10442451	18928750	122284681	40	6930											
GNAQ	2776	genome.wustl.edu	37	chr9	80646047	80646047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgagctcccggcgggcGtcccgcttgtccctgcggag	3	8	15	15	5	0	1	0	1	0	0	3	2	3	2	3	3	3	3	3	3	0	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:80646047G>A	ENST00000286548.4	-	1	327	c.105C>T	c.(103-105)gaC>gaT	p.D35D		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	35					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCGGCGGGCGTCCCGCTTGT	0.716			Mis		uveal melanoma																																			Dom	yes		9	9q21	2776	"guanine nucleotide binding protein (G protein), q polypeptide"		E	0													10	11	11					9																	80646047		2164	4251	6415	SO:0001819	synonymous_variant	0				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.105C>T	9.37:g.80646047G>A			O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	p.D35	ENST00000286548.4	37	c.105	CCDS6658.1	9																																																																																			GNAQ	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000156052		0.716	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAQ	HGNC	protein_coding	OTTHUMT00000052761.1		0	34	0	G	NM_002072		80646047	-1			no_errors	ENST00000286548	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	A	A	80646047	G	A	80646047	2	1	27	1	0	0	0	0	0	0	0	1	6535	1136	40	1		1	GNAQ	9	80646047	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	61717297	80646047	60567384	41	6931											
SETX	23064	genome.wustl.edu	37	chr9	135153554	135153554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagctgtagaatgggcaGcctgctgatcatgttgtgtt	8	13	14	6	0	1	3	1	2	0	1	1	3	1	3	1	1	3	6	1	1	2	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:135153554G>T	ENST00000224140.5	-	21	6927	c.6745C>A	c.(6745-6747)Ctg>Atg	p.L2249M	SETX_ENST00000372169.2_Missense_Mutation_p.L2249M|SETX_ENST00000393220.1_Missense_Mutation_p.L2249M|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2249					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGAATGGGCAGCCTGCTGATC	0.448																																																	0													182	163	169					9																	135153554		2203	4300	6503	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6745C>A	9.37:g.135153554G>T	ENSP00000224140:p.Leu2249Met		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.L2249M	ENST00000224140.5	37	c.6745	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523095	0.27211	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.87	1.29	0.21616	.	0.413210	0.21167	N	0.079044	D	0.83064	0.5173	L	0.31804	0.96	0.09310	N	1	B;P;P	0.34615	0.058;0.454;0.459	B;B;B	0.34138	0.086;0.176;0.11	T	0.74919	-0.3500	10	0.59425	D	0.04	.	2.4637	0.04547	0.1326:0.142:0.4357:0.2898	.	2249;2249;2249	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	M	2249;491;2249;2249	ENSP00000224140:L2249M;ENSP00000409143:L491M;ENSP00000361242:L2249M;ENSP00000376913:L2249M	ENSP00000224140:L2249M	L	-	1	2	SETX	134143375	0.728000	0.28080	0.906000	0.35671	0.516000	0.34256	1.727000	0.38095	0.737000	0.32582	0.650000	0.86243	CTG	SETX	-	superfamily_P-loop_NTPase	ENSG00000107290		0.448	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3		0	33	0	G	NM_015046		135153554	-1			no_errors	ENST00000372169	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.024	T	T	135153554	G	T	135153554	3	4	27	1	0	0	0	0	1	0	0	0	14186	962	34	3	1312	3	SETX	9	135153554	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	54507507	135153554	6059877	42	6932											
NOTCH1	4851	genome.wustl.edu	37	chr9	139413231	139413231	+	Frame_Shift_Del	DEL	T	T	-																															tcccgccgttctggcaggcaTttggcatcagctggcactcg																										TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:139413231delT	ENST00000277541.6	-	6	986	c.911delA	c.(910-912)aatfs	p.N304fs	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	304	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCAGGCATTTGGCATCAG	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													56	65	62					9																	139413231		2196	4296	6492	SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.911delA	9.37:g.139413231delT	ENSP00000277541:p.Asn304fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.N304fs	ENST00000277541.6	37	c.911	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.617	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	156	0	T	NM_017617		139413231	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	60.00	46	69	DEL	1.000	-	-	139413231	T	-	139413231	7	5	27	1	0	1	0	1	0	0	0	0	10586	1493	52	0	6872	0	NOTCH1	9	139413231	Frame_Shift_Del	DEL	T	TCGA-IG-A5S3-01A-11D-A28B-09	4259677	139413231	1800200	43	6933											
DDX50	79009	genome.wustl.edu	37	chr10	70694630	70694630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatttgtatatgtttttatCaaccaagagaaagaggtcaa	15	13	9	4	0	2	2	2	0	0	2	2	4	2	3	1	2	1	2	1	2	7	6			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr10:70694630C>G	ENST00000373585.3	+	10	1584	c.1477C>G	c.(1477-1479)Caa>Gaa	p.Q493E	DDX50_ENST00000466265.1_Intron	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	493	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATGTTTTTATCAACCAAGAGA	0.363																																																	0													118	127	124					10																	70694630		2203	4300	6503	SO:0001583	missense	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"DEAD-boxes"	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1477C>G	10.37:g.70694630C>G	ENSP00000362687:p.Gln493Glu		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q493E	ENST00000373585.3	37	c.1477	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082323	0.36758	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04502	3.61	5.33	5.33	0.75918	Helicase, C-terminal (1);	0.158047	0.64402	D	0.000018	T	0.03651	0.0104	N	0.13327	0.33	0.46241	D	0.998942	B	0.17268	0.021	B	0.12156	0.007	T	0.52711	-0.8539	10	0.16420	T	0.52	-9.288	14.9481	0.71047	0.0:0.8575:0.1425:0.0	.	493	Q9BQ39	DDX50_HUMAN	E	493	ENSP00000362687:Q493E	ENSP00000362687:Q493E	Q	+	1	0	DDX50	70364636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.410000	0.66381	2.650000	0.89964	0.655000	0.94253	CAA	DDX50	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000107625		0.363	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0	34	0	C	NM_024045		70694630	1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	G	G	70694630	C	G	70694630	3	3	27	1	0	0	0	0	1	0	0	0	4377	827	29	5	1515	5	DDX50	10	70694630	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		70694630	64840117	44	6934											
ADAMTS14	140766	genome.wustl.edu	37	chr10	72498630	72498630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcactgcatctggaagtcGccggagcagacatatggcca	10	7	13	11	2	2	1	1	0	1	1	3	3	2	3	2	4	2	2	2	4	2	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr10:72498630G>A	ENST00000373207.1	+	11	1632	c.1632G>A	c.(1630-1632)tcG>tcA	p.S544S	ADAMTS14_ENST00000373208.1_Silent_p.S547S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	544	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCTGGAAGTCGCCGGAGCAGA	0.642																																																	0													68	64	65					10																	72498630		2203	4300	6503	SO:0001819	synonymous_variant	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1632G>A	10.37:g.72498630G>A			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S547	ENST00000373207.1	37	c.1641	CCDS7306.1	10																																																																																			ADAMTS14	-	NULL	ENSG00000138316		0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	-	0	141	0	G	NM_080722		72498630	1	tier1	-	no_errors	ENST00000373208	ensembl	human	known	74_37	silent	20.00	60	15	SNP	0.000	A	A	72498630	G	A	72498630	2	1	27	1	0	0	0	0	0	0	0	1	259	1074	38	1		1	ADAMTS14	10	72498630	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	1804000	72498630	63036117	45	6935											
OR51G2	81282	genome.wustl.edu	37	chr11	4936269	4936269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatacccactgtagagaCgatgacaaacatgccgtaga	14	8	9	10	2	1	3	0	1	1	2	1	5	1	3	2	0	3	2	2	0	5	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:4936269C>T	ENST00000322013.3	-	1	653	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTAGAGACGATGACAAAC	0.512																																																	0													136	109	118					11																	4936269		2201	4298	6499	SO:0001583	missense	0			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.625G>A	11.37:g.4936269C>T	ENSP00000322593:p.Val209Ile		Q6IFH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V209I	ENST00000322013.3	37	c.625	CCDS31365.1	11	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.238704	0.00274	.	.	ENSG00000176893	ENST00000322013	T	0.37584	1.19	5.28	-2.68	0.06041	GPCR, rhodopsin-like superfamily (1);	0.675461	0.12926	N	0.427792	T	0.08088	0.0202	N	0.01624	-0.795	0.09310	N	1	B	0.21452	0.056	B	0.16722	0.016	T	0.31916	-0.9926	10	0.02654	T	1	.	2.661	0.05027	0.1026:0.4437:0.2004:0.2533	.	209	Q8NGK0	O51G2_HUMAN	I	209	ENSP00000322593:V209I	ENSP00000322593:V209I	V	-	1	0	OR51G2	4892845	0.000000	0.05858	0.090000	0.20809	0.152000	0.21847	-2.731000	0.00805	-0.239000	0.09710	-1.662000	0.00750	GTC	OR51G2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176893		0.512	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	-	0	46	0	C	NM_001005238		4936269	-1	tier1	-	no_errors	ENST00000322013	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.003	T	T	4936269	C	T	4936269	3	4	27	1	0	0	0	0	1	0	0	0	11138	536	19	1	323	1	OR51G2	11	4936269	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		4936269	130070247	46	6936											
UBQLN3	50613	genome.wustl.edu	37	chr11	5529807	5529807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacctatttctaatgtCaggtgcatcctgatccccat	10	13	7	11	0	2	1	1	1	1	0	4	2	4	2	4	2	2	1	4	2	3	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:5529807C>A	ENST00000311659.4	-	2	1129	c.982G>T	c.(982-984)Gac>Tac	p.D328Y	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	328										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTAATGTCAGGTGCATCC	0.488																																					Ovarian(72;684 1260 12332 41642 52180)												0													86	77	80					11																	5529807		2201	4297	6498	SO:0001583	missense	0			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.982G>T	11.37:g.5529807C>A	ENSP00000347997:p.Asp328Tyr		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.D328Y	ENST00000311659.4	37	c.982	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	C	3.319	-0.139125	0.06669	.	.	ENSG00000175520	ENST00000311659	T	0.37411	1.2	5.0	5.0	0.66597	.	0.170363	0.28067	N	0.016739	T	0.28566	0.0707	L	0.29908	0.895	0.21499	N	0.999668	B	0.24533	0.105	B	0.20384	0.029	T	0.24119	-1.0169	10	0.62326	D	0.03	-32.137	13.9722	0.64247	0.0:1.0:0.0:0.0	.	328	Q9H347	UBQL3_HUMAN	Y	328	ENSP00000347997:D328Y	ENSP00000347997:D328Y	D	-	1	0	UBQLN3	5486383	0.122000	0.22280	0.158000	0.22627	0.007000	0.05969	2.092000	0.41700	2.748000	0.94277	0.591000	0.81541	GAC	UBQLN3	-	NULL	ENSG00000175520		0.488	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0	27	0	C	NM_017481		5529807	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.248	A	A	5529807	C	A	5529807	3	1	27	1	0	0	0	0	1	0	0	0	16947	826	29	3	989	3	UBQLN3	11	5529807	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	593538	5529807	129476709	47	6937											
ABCC8	6833	genome.wustl.edu	37	chr11	17416732	17416732	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttaccgaggcctcctggCagtgccttcaccaccagctt	7	10	9	15	1	1	0	1	0	0	0	2	1	2	0	6	2	3	3	6	2	2	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:17416732C>A	ENST00000389817.3	-	36	4466	c.4398G>T	c.(4396-4398)ctG>ctT	p.L1466L	ABCC8_ENST00000302539.4_Silent_p.L1467L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1466	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGCCTCCTGGCAGTGCCTTCA	0.572																																																	0													44	36	38					11																	17416732		2200	4292	6492	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4398G>T	11.37:g.17416732C>A			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L1467	ENST00000389817.3	37	c.4401	CCDS31437.1	11																																																																																			ABCC8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000006071		0.572	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	19	0	C	NM_000352		17416732	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.994	A	A	17416732	C	A	17416732	2	1	27	1	0	0	0	0	0	0	0	1	58	697	25	3		3	ABCC8	11	17416732	Silent	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	11886925	17416732	117589784	48	6938											
HTATIP2	10553	genome.wustl.edu	37	chr11	20385843	20385843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggatgcagaataaatcCgtctttattttgggcgccag	10	13	10	8	2	2	1	1	0	1	1	3	2	3	2	2	2	1	1	2	2	4	6			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:20385843C>T	ENST00000451739.2	+	1	501	c.60C>T	c.(58-60)tcC>tcT	p.S20S	HTATIP2_ENST00000530266.1_Silent_p.S20S|HTATIP2_ENST00000419348.2_Silent_p.S54S|HTATIP2_ENST00000531058.1_Silent_p.S20S|HTATIP2_ENST00000532505.1_Silent_p.S20S|HTATIP2_ENST00000443524.2_Silent_p.S20S|HTATIP2_ENST00000421577.2_Silent_p.S20S|HTATIP2_ENST00000532081.1_Silent_p.S20S	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGAATAAATCCGTCTTTATTT	0.527																																																	0													86	93	91					11																	20385843		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.60C>T	11.37:g.20385843C>T				Silent	SNP	pfam_Semialdehyde_DH_NAD-bd	p.S54	ENST00000451739.2	37	c.162	CCDS7852.1	11																																																																																			HTATIP2	-	NULL	ENSG00000109854		0.527	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	HGNC	protein_coding	OTTHUMT00000387445.2	-	0	27	0	C	NM_001098521		20385843	1	tier1	-	no_errors	ENST00000419348	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.407	T	T	20385843	C	T	20385843	2	4	27	1	0	0	0	0	0	0	0	1	7459	639	23	1		1	HTATIP2	11	20385843	Silent	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	2969111	20385843	114620673	49	6939											
RIN1	9610	genome.wustl.edu	37	chr11	66103267	66103267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgtagtggctggagacGaaggaggggccactggcttc	9	7	18	7	1	0	1	0	0	0	1	1	5	0	3	1	7	0	3	1	7	2	2	rs374126284		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:66103267G>A	ENST00000311320.4	-	3	474	c.348C>T	c.(346-348)ttC>ttT	p.F116F	RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.F11F|RIN1_ENST00000424433.2_Silent_p.F11F	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	116	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGCTGGAGACGAAGGAGGGGC	0.637																																																	0													28	33	32					11																	66103267		2200	4295	6495	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.348C>T	11.37:g.66103267G>A			O15010|Q00427|Q96CC8	Missense_Mutation	SNP	NULL	p.S56L	ENST00000311320.4	37	c.167	CCDS31614.1	11																																																																																			RIN1	-	NULL	ENSG00000174791		0.637	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0	59	0	G	NM_004292		66103267	-1	tier1	-	no_errors	ENST00000530745	ensembl	human	known	74_37	missense	20.41	39	10	SNP	0.772	A	A	66103267	G	A	66103267	2	1	27	1	0	0	0	0	0	0	0	1	13416	1049	37	1		1	RIN1	11	66103267	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	45717424	66103267	68903249	50	6940											
NPAS4	266743	genome.wustl.edu	37	chr11	66191454	66191454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactaacccactcttcaccGcagcactgggggctcccaga	9	6	9	17	1	2	1	1	0	1	1	3	1	3	1	3	2	2	4	3	2	1	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:66191454G>A	ENST00000311034.2	+	7	1269	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	365					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACTCTTCACCGCAGCACTGGG	0.567																																																	0													140	146	144					11																	66191454		2200	4295	6495	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1093G>A	11.37:g.66191454G>A	ENSP00000311196:p.Ala365Thr		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.A365T	ENST00000311034.2	37	c.1093	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	5.986	0.365841	0.11352	.	.	ENSG00000174576	ENST00000311034	T	0.42900	0.96	4.3	-1.5	0.08691	.	0.625953	0.14269	N	0.330283	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11348	-1.0591	10	0.37606	T	0.19	-0.3787	3.347	0.07139	0.276:0.2272:0.4071:0.0897	.	365	Q8IUM7	NPAS4_HUMAN	T	365	ENSP00000311196:A365T	ENSP00000311196:A365T	A	+	1	0	NPAS4	65948030	0.004000	0.15560	0.218000	0.23776	0.686000	0.39977	0.166000	0.16583	-0.121000	0.11787	-2.538000	0.00180	GCA	NPAS4	-	NULL	ENSG00000174576		0.567	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	-	0	24	0	G	NM_178864		66191454	1	tier1	-	no_errors	ENST00000311034	ensembl	human	known	74_37	missense	34.48	18	10	SNP	0.042	A	A	66191454	G	A	66191454	3	1	27	1	0	0	0	0	1	0	0	0	10604	1087	38	1	1119	1	NPAS4	11	66191454	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	88187	66191454	68815062	51	6941											
OR10G8	219869	genome.wustl.edu	37	chr11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcctatgtgtccatcGtctgttccatcctgcggatc	4	15	9	13	2	1	0	0	0	1	0	7	1	5	1	4	1	2	2	4	1	1	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:123900990G>A	ENST00000431524.1	+	1	694	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542																																																	1	Substitution - Missense(1)	prostate(1)											171	148	156					11																	123900990		2201	4299	6500	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.661G>A	11.37:g.123900990G>A	ENSP00000389072:p.Val221Ile		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V221I	ENST00000431524.1	37	c.661	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.747167	0.00669	.	.	ENSG00000234560	ENST00000431524	T	0.00048	8.82	2.91	-0.148	0.13424	GPCR, rhodopsin-like superfamily (1);	0.317250	0.22424	N	0.060258	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.16600	-1.0397	10	0.33940	T	0.23	.	3.2637	0.06858	0.4226:0.0:0.2966:0.2808	.	221	Q8NGN5	O10G8_HUMAN	I	221	ENSP00000389072:V221I	ENSP00000389072:V221I	V	+	1	0	OR10G8	123406200	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-1.743000	0.01834	-0.156000	0.11079	-1.011000	0.02470	GTC	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000234560		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0	188	0	G	NM_001004464		123900990	1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	32.12	93	44	SNP	0.000	A	A	123900990	G	A	123900990	3	1	27	1	0	0	0	0	1	0	0	0	10942	1145	40	1	663	1	OR10G8	11	123900990	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	57709536	123900990	11105526	52	6942											
CACNA1C	775	genome.wustl.edu	37	chr12	2800324	2800324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcggggtcgaccgagtgagGaggagctccaggacagcagg	9	3	19	10	4	0	1	0	1	0	0	2	6	1	4	2	6	2	2	2	6	0	0			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:2800324G>A	ENST00000347598.4	+	49	6520	c.6520G>A	c.(6520-6522)Gag>Aag	p.E2174K	CACNA1C_ENST00000399606.1_Missense_Mutation_p.E2146K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E2151K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E2197K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E2126K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E2134K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E2161K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E2197K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E2145K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E2161K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E2167K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E2145K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E2132K|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E2143K|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E2145K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E2134K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E2154K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2209					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCGAGTGAGGAGGAGCTCCA	0.617																																																	0													24	31	29					12																	2800324		1958	4129	6087	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6520G>A	12.37:g.2800324G>A	ENSP00000266376:p.Glu2174Lys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E2197K	ENST00000347598.4	37	c.6589	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347847	0.61183	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.49	4.49	0.54785	.	1.750340	0.02415	N	0.082070	T	0.66416	0.2787	M	0.61703	1.905	0.34933	D	0.749575	B;P;B;P;P;P;P;P;P;P;P;B;B;P;B;B;B;P;P;B;P;P;P;B;B	0.49862	0.419;0.73;0.073;0.474;0.604;0.554;0.675;0.73;0.73;0.929;0.726;0.073;0.021;0.604;0.043;0.258;0.021;0.469;0.554;0.332;0.675;0.73;0.726;0.073;0.073	P;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.47786	0.533;0.234;0.059;0.199;0.157;0.107;0.164;0.157;0.234;0.557;0.214;0.059;0.049;0.234;0.027;0.046;0.049;0.221;0.107;0.158;0.164;0.108;0.214;0.059;0.059	T	0.64093	-0.6488	10	0.87932	D	0	.	17.7187	0.88344	0.0:0.0:1.0:0.0	.	817;2167;2123;2209;2161;2145;2126;2143;2154;2126;2146;2126;2157;2174;2126;2161;2197;2134;2132;2134;2115;2145;2145;2126;2126	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	2151;2126;2126;2154;2126;2145;2145;2134;2126;2174;2146;2126;2167;2143;2161;2132;2145;2126;2197;2161;2197;2134;2027	ENSP00000336982:E2151K;ENSP00000382563:E2126K;ENSP00000382552:E2126K;ENSP00000382547:E2154K;ENSP00000382506:E2126K;ENSP00000382530:E2145K;ENSP00000382546:E2145K;ENSP00000382500:E2134K;ENSP00000382549:E2126K;ENSP00000266376:E2174K;ENSP00000382515:E2146K;ENSP00000382510:E2126K;ENSP00000341092:E2167K;ENSP00000382537:E2143K;ENSP00000329877:E2161K;ENSP00000382557:E2132K;ENSP00000385724:E2145K;ENSP00000382512:E2126K;ENSP00000382542:E2197K;ENSP00000382526:E2161K;ENSP00000385896:E2197K;ENSP00000382504:E2134K	ENSP00000323129:E2027K	E	+	1	0	CACNA1C	2670585	1.000000	0.71417	0.939000	0.37840	0.678000	0.39670	5.066000	0.64351	2.498000	0.84270	0.591000	0.81541	GAG	CACNA1C	-	NULL	ENSG00000151067		0.617	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	48	0	G	NM_000719		2800324	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	25.93	60	21	SNP	1.000	A	A	2800324	G	A	2800324	3	1	27	1	0	0	0	0	1	0	0	0	2547	1175	41	3	7271	3	CACNA1C	12	2800324	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		2800324	131051571	53	6943											
DYRK4	8798	genome.wustl.edu	37	chr12	4708255	4708255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcttcagtctgtccatagttCggcgcttcactctctctgtt	4	16	8	13	2	5	0	2	0	3	0	8	0	6	0	1	1	0	4	1	1	1	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:4708255C>G	ENST00000540757.2	+	7	782	c.622C>G	c.(622-624)Cgg>Ggg	p.R208G	DYRK4_ENST00000010132.5_Missense_Mutation_p.R208G|DYRK4_ENST00000543431.1_Missense_Mutation_p.R208G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GTCCATAGTTCGGCGCTTCAC	0.438																																																	0													159	151	154					12																	4708255		2203	4300	6503	SO:0001583	missense	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.622C>G	12.37:g.4708255C>G	ENSP00000441755:p.Arg208Gly		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R208G	ENST00000540757.2	37	c.622	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145596	0.77888	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.29	5.29	0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51415	0.1673	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.981;0.971	T	0.56848	-0.7911	10	0.87932	D	0	.	18.5481	0.91054	0.0:1.0:0.0:0.0	.	323;208;208	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	G	323;208;208;208	ENSP00000437534:R323G;ENSP00000441755:R208G;ENSP00000010132:R208G;ENSP00000439697:R208G	ENSP00000010132:R208G	R	+	1	2	DYRK4	4578516	1.000000	0.71417	0.975000	0.42487	0.622000	0.37654	4.623000	0.61247	2.467000	0.83353	0.555000	0.69702	CGG	DYRK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000010219		0.438	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	HGNC	protein_coding	OTTHUMT00000398780.2	-	0	103	0	C			4708255	1	tier1	-	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	6.54	142	10	SNP	1.000	G	G	4708255	C	G	4708255	3	3	27	1	0	0	0	0	1	0	0	0	4872	875	31	5	640	5	DYRK4	12	4708255	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	1907931	4708255	129143640	54	6944											
PLBD1	79887	genome.wustl.edu	37	chr12	14706313	14706313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacttgtactgtcttttcaGcaggcatccagtatgcagtt	8	15	9	9	0	2	1	1	1	1	0	3	1	3	1	1	1	3	6	1	1	2	6			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:14706313G>C	ENST00000240617.5	-	2	801	c.149C>G	c.(148-150)gCt>gGt	p.A50G	RN7SKP134_ENST00000363960.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	50					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGTCTTTTCAGCAGGCATCCA	0.413																																																	0													99	96	97					12																	14706313		2203	4300	6503	SO:0001583	missense	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.149C>G	12.37:g.14706313G>C	ENSP00000240617:p.Ala50Gly		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.A50G	ENST00000240617.5	37	c.149	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393863	0.25205	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T	0.17691	2.26	6.17	1.74	0.24563	.	1.483950	0.03327	N	0.192759	T	0.17916	0.0430	L	0.35593	1.075	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44877	-0.9299	10	0.20519	T	0.43	1.7508	15.7445	0.77929	0.0:0.0:0.3544:0.6456	.	50	Q6P4A8	PLBL1_HUMAN	G	50;3	ENSP00000240617:A50G	ENSP00000240617:A50G	A	-	2	0	PLBD1	14597580	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.693000	0.25497	-0.010000	0.14271	-0.169000	0.13324	GCT	PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.413	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	-	0	42	0	G	NM_024829		14706313	-1	tier1	-	no_errors	ENST00000240617	ensembl	human	known	74_37	missense	39.74	47	31	SNP	0.000	C	C	14706313	G	C	14706313	3	2	27	1	0	0	0	0	1	0	0	0	12064	971	34	5	1552	5	PLBD1	12	14706313	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	9998058	14706313	119145582	55	6945											
SLCO1A2	6579	genome.wustl.edu	37	chr12	21457384	21457384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatataaaggagaattttcaAatttggcaaaatcttctata	17	15	5	4	0	3	1	1	0	2	1	3	2	3	1	0	2	0	1	0	2	10	9			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:21457384A>G	ENST00000307378.6	-	7	1286	c.566T>C	c.(565-567)tTt>tCt	p.F189S	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F187S|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.F57S|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.F57S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F189S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	189					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AGAATTTTCAAATTTGGCAAA	0.348																																																	0													54	57	56					12																	21457384		2203	4300	6503	SO:0001583	missense	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"Solute carriers"	10956	protein-coding gene	gene with protein product		602883	"solute carrier family 21 (organic anion transporter), member 3"	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.566T>C	12.37:g.21457384A>G	ENSP00000305974:p.Phe189Ser		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F189S	ENST00000307378.6	37	c.566	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	A	9.677	1.148300	0.21288	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.75	2.93	0.34026	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714821	0.13928	N	0.353072	T	0.14270	0.0345	N	0.00162	-1.95	0.19775	N	0.999954	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.22977	-1.0201	10	0.06494	T	0.89	.	10.8498	0.46763	0.1536:0.0:0.8464:0.0	.	169;187;189	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	S	189;189;57;57;187	ENSP00000305974:F189S;ENSP00000393973:F189S;ENSP00000394854:F57S;ENSP00000439401:F57S;ENSP00000375088:F187S	ENSP00000305974:F189S	F	-	2	0	SLCO1A2	21348651	0.806000	0.28996	0.999000	0.59377	0.991000	0.79684	1.512000	0.35812	0.626000	0.30322	-0.202000	0.12741	TTT	SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.348	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	-	0	38	0	A	NM_021094		21457384	-1	tier1	-	no_errors	ENST00000307378	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.985	G	G	21457384	A	G	21457384	3	3	27	1	0	0	0	0	1	0	0	0	14767	14	1	4	1486	4	SLCO1A2	12	21457384	Missense_Mutation	SNP	A	TCGA-IG-A5S3-01A-11D-A28B-09	6751071	21457384	112394511	56	6946											
KCNJ8	3764	genome.wustl.edu	37	chr12	21918874	21918874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccagctctcgggcactgCaccgtggagcagctacttta	8	9	10	14	2	1	0	0	0	1	0	3	1	2	1	2	2	5	5	2	2	2	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:21918874C>T	ENST00000240662.2	-	3	1403	c.1058G>A	c.(1057-1059)tGc>tAc	p.C353Y	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	353					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCGGGCACTGCACCGTGGAGC	0.483																																																	0													126	124	125					12																	21918874		2203	4300	6503	SO:0001583	missense	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1058G>A	12.37:g.21918874C>T	ENSP00000240662:p.Cys353Tyr		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.C353Y	ENST00000240662.2	37	c.1058	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520637	0.64747	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.94184	-3.37	5.55	4.66	0.58398	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	D	0.95938	0.8944	10	0.46703	T	0.11	.	14.642	0.68732	0.0:0.9306:0.0:0.0694	.	353	Q15842	IRK8_HUMAN	Y	353	ENSP00000240662:C353Y	ENSP00000240662:C353Y	C	-	2	0	KCNJ8	21810141	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	7.638000	0.83328	1.581000	0.49865	0.655000	0.94253	TGC	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	ENSG00000121361		0.483	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	-	0	62	0	C	NM_004982		21918874	-1	tier1	-	no_errors	ENST00000240662	ensembl	human	known	74_37	missense	55.41	33	41	SNP	1.000	T	T	21918874	C	T	21918874	3	4	27	1	0	0	0	0	1	0	0	0	8083	710	25	3	220	3	KCNJ8	12	21918874	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	461490	21918874	111933021	57	6947											
DBX2	440097	genome.wustl.edu	37	chr12	45417494	45417494	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcttattagtacctgtGattcctttagtcccaagttg	7	17	7	10	0	0	1	0	1	0	0	3	1	3	1	4	0	2	3	4	0	5	7			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:45417494G>T	ENST00000332700.6	-	3	854	c.683C>A	c.(682-684)tCa>tAa	p.S228*		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	228					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TAGTACCTGTGATTCCTTTAG	0.433																																																	0													259	258	258					12																	45417494		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.683C>A	12.37:g.45417494G>T	ENSP00000331470:p.Ser228*			Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.S228*	ENST00000332700.6	37	c.683	CCDS31781.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.158556	0.98103	.	.	ENSG00000185610	ENST00000332700	.	.	.	5.73	5.73	0.89815	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-12.6172	19.8932	0.96939	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000331470:S228X	S	-	2	0	DBX2	43703761	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.807000	0.99171	2.698000	0.92095	0.655000	0.94253	TCA	DBX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	ENSG00000185610		0.433	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	HGNC	protein_coding	OTTHUMT00000404810.1	-	0	73	0	G	NM_001004329		45417494	-1	tier1	-	no_errors	ENST00000332700	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	1.000	T	T	45417494	G	T	45417494	4	4	27	1	0	0	0	0	0	1	0	0	4269	1294	45	3	344	3	DBX2	12	45417494	Nonsense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	23498620	45417494	88434401	58	6948											
ESPL1	9700	genome.wustl.edu	37	chr12	53668781	53668781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccagggctggagacaagGagctacagctaaagtgagtt	12	6	15	8	1	0	2	0	1	0	1	0	4	0	3	1	4	3	4	1	4	4	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:53668781G>T	ENST00000257934.4	+	7	1778	c.1687G>T	c.(1687-1689)Gag>Tag	p.E563*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.E563*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	563					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGAGACAAGGAGCTACAGCT	0.587																																					Colon(53;1069 1201 2587 5382)												0													51	51	51					12																	53668781		2203	4300	6503	SO:0001587	stop_gained	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1687G>T	12.37:g.53668781G>T	ENSP00000257934:p.Glu563*			Nonsense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.E563*	ENST00000257934.4	37	c.1687	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.869457	0.97897	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.91	5.02	0.67125	.	0.175614	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.797	0.57564	0.079:0.0:0.921:0.0	.	.	.	.	X	563;238;563	.	ENSP00000257934:E563X	E	+	1	0	ESPL1	51955048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.833000	0.75334	1.499000	0.48617	0.650000	0.86243	GAG	ESPL1	-	NULL	ENSG00000135476		0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	48	0	G	NM_012291		53668781	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	nonsense	22.22	28	8	SNP	1.000	T	T	53668781	G	T	53668781	4	4	27	1	0	0	0	0	0	1	0	0	5269	1175	41	3	1709	3	ESPL1	12	53668781	Nonsense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	8251287	53668781	80183114	59	6949											
TRHDE	29953	genome.wustl.edu	37	chr12	72680484	72680484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttggtgttactcagttttCgcctacacatgccagaaagg	9	12	9	11	1	1	1	1	0	0	1	2	1	1	1	3	2	3	2	3	2	3	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:72680484C>T	ENST00000261180.4	+	2	899	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	268					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTCAGTTTTCGCCTACACAT	0.363																																																	0													124	115	118					12																	72680484		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.803C>T	12.37:g.72680484C>T	ENSP00000261180:p.Ser268Leu		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S268L	ENST00000261180.4	37	c.803	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727881	0.89390	.	.	ENSG00000072657	ENST00000261180	T	0.02709	4.19	5.83	5.83	0.93111	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.125662	0.53938	D	0.000055	T	0.16128	0.0388	M	0.71036	2.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.72982	0.979	T	0.00011	-1.2434	10	0.72032	D	0.01	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	268	Q9UKU6	TRHDE_HUMAN	L	268	ENSP00000261180:S268L	ENSP00000261180:S268L	S	+	2	0	TRHDE	70966751	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.240000	0.72363	2.770000	0.95276	0.655000	0.94253	TCG	TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.363	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	49	0	C	NM_013381		72680484	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	35.00	39	21	SNP	1.000	T	T	72680484	C	T	72680484	3	4	27	1	0	0	0	0	1	0	0	0	16527	893	31	1	809	1	TRHDE	12	72680484	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	19011703	72680484	61171411	60	6950											
BTBD11	121551	genome.wustl.edu	37	chr12	108013823	108013823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgccttccagcagcaccGcaggcctctcatccagtgct	7	8	9	17	2	1	0	1	0	1	0	5	1	3	0	5	1	3	4	5	1	0	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:108013823G>A	ENST00000280758.5	+	11	3041	c.2513G>A	c.(2512-2514)cGc>cAc	p.R838H	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R375H|BTBD11_ENST00000420571.2_Missense_Mutation_p.R719H|BTBD11_ENST00000490090.2_Missense_Mutation_p.R838H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	838						integral component of membrane (GO:0016021)		p.R838H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGCAGCACCGCAGGCCTCTC	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											54	52	53					12																	108013823		2203	4300	6503	SO:0001583	missense	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2513G>A	12.37:g.108013823G>A	ENSP00000280758:p.Arg838His		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.R838H	ENST00000280758.5	37	c.2513	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846832	0.91277	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.50001	1.02;0.76;1.05;0.84	5.04	5.04	0.67666	.	0.103648	0.64402	D	0.000002	T	0.65883	0.2734	L	0.60455	1.87	0.80722	D	1	D;P;D;P	0.76494	0.999;0.796;0.998;0.954	D;B;P;P	0.80764	0.994;0.165;0.7;0.481	T	0.65043	-0.6264	10	0.41790	T	0.15	.	18.4012	0.90516	0.0:0.0:1.0:0.0	.	719;375;838;838	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	H	838;719;838;375	ENSP00000280758:R838H;ENSP00000413889:R719H;ENSP00000447319:R838H;ENSP00000349690:R375H	ENSP00000280758:R838H	R	+	2	0	BTBD11	106537953	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.819000	0.99357	2.326000	0.78906	0.650000	0.86243	CGC	BTBD11	-	NULL	ENSG00000151136		0.602	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1		0	75	0	G	NM_152322		108013823	1			no_errors	ENST00000280758	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	108013823	G	A	108013823	3	1	27	1	0	0	0	0	1	0	0	0	1543	1087	38	1	2660	1	BTBD11	12	108013823	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	35333339	108013823	25838072	61	6951											
DCT	1638	genome.wustl.edu	37	chr13	95114434	95114434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaccaggtggttgtaGtcatccaagctaagatttgt	11	12	12	6	0	1	2	1	1	0	1	2	2	2	2	2	3	1	3	2	3	4	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr13:95114434G>A	ENST00000377028.5	-	5	1286	c.873C>T	c.(871-873)gaC>gaT	p.D291D	DCT_ENST00000446125.1_Silent_p.D291D|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	291					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGTGGTTGTAGTCATCCAAGC	0.418																																																	0													99	86	91					13																	95114434		2203	4300	6503	SO:0001819	synonymous_variant	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.873C>T	13.37:g.95114434G>A			Q09GT4	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.D291	ENST00000377028.5	37	c.873	CCDS9470.1	13																																																																																			DCT	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000080166		0.418	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	-	0	73	0	G			95114434	-1	tier1	-	no_errors	ENST00000446125	ensembl	human	known	74_37	silent	40.38	31	21	SNP	0.991	A	A	95114434	G	A	95114434	2	1	27	1	0	0	0	0	0	0	0	1	4313	1020	36	3		3	DCT	13	95114434	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		95114434	20055444	62	6952											
GAS6	2621	genome.wustl.edu	37	chr13	114541097	114541097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgctgtggcaggaacagtgGaagctacccggcttgttgtg	7	9	15	10	2	0	0	0	0	0	0	0	2	0	2	2	4	3	5	2	4	3	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr13:114541097G>A	ENST00000327773.6	-	6	680	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GAS6_ENST00000355761.4_Silent_p.F124F|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.F178F|GAS6_ENST00000450766.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	178	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGGAACAGTGGAAGCTACCCG	0.622																																																	0													104	96	99					13																	114541097		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"AXL stimulatory factor"	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.534C>T	13.37:g.114541097G>A			B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.F178	ENST00000327773.6	37	c.534	CCDS45072.1	13																																																																																			GAS6	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000183087		0.622	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	-	0	168	0	G	NM_000820		114541097	-1	tier1	-	no_errors	ENST00000357389	ensembl	human	known	74_37	silent	29.17	84	35	SNP	0.945	A	A	114541097	G	A	114541097	2	1	27	1	0	0	0	0	0	0	0	1	6274	1165	41	3		3	GAS6	13	114541097	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	19426663	114541097	628781	63	6953											
COCH	1690	genome.wustl.edu	37	chr14	31354680	31354680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatccccaaagtggtggtgGtatttattgatggttggcct	7	14	14	6	0	0	1	0	1	0	0	1	2	1	2	3	6	0	2	3	6	3	5	rs186875564	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr14:31354680G>T	ENST00000396618.3	+	10	870	c.814G>T	c.(814-816)Gta>Tta	p.V272L	COCH_ENST00000382493.4_Missense_Mutation_p.V123L|COCH_ENST00000475087.1_Missense_Mutation_p.V272L|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.V272L|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000460581.2_Missense_Mutation_p.V160L	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	272	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGTGGTGGTGGTATTTATTGA	0.428																																																	0													179	160	166					14																	31354680		2203	4300	6503	SO:0001583	missense	0				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"coagulation factor C (Limulus polyphemus homolog); cochlin", "coagulation factor C homolog, cochlin (Limulus polyphemus)"	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.814G>T	14.37:g.31354680G>T	ENSP00000379862:p.Val272Leu		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.V272L	ENST00000396618.3	37	c.814	CCDS9640.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	4.999913|4.999913	0.93227|0.93227	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000555881;ENST00000460581;ENST00000542225;ENST00000382493|ENST00000468826	T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-0.79;-1.45;-1.45|.	5.6|5.6	5.6|5.6	0.85130|0.85130	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60805|0.60805	0.2297|0.2297	L|L	0.33753|0.33753	1.03|1.03	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.992;0.992|.	D;D;D|.	0.85130|.	0.997;0.992;0.992|.	T|T	0.54344|0.54344	-0.8308|-0.8308	10|5	0.54805|.	T|.	0.06|.	-10.6472|-10.6472	19.6182|19.6182	0.95643|0.95643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;272;272|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	L|C	272;272;272;154;160;160;123|155	ENSP00000216361:V272L;ENSP00000379862:V272L;ENSP00000451528:V272L;ENSP00000452569:V154L;ENSP00000451713:V160L;ENSP00000371933:V123L|.	ENSP00000216361:V272L|.	V|W	+|+	1|3	0|0	COCH|COCH	30424431|30424431	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	7.511000|7.511000	0.81718|0.81718	2.626000|2.626000	0.88956|0.88956	0.650000|0.650000	0.86243|0.86243	GTA|TGG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000100473		0.428	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	-	0	102	0	G	NM_004086		31354680	1	tier1	-	no_errors	ENST00000216361	ensembl	human	known	74_37	missense	6.67	55	4	SNP	1.000	T	T	31354680	G	T	31354680	3	4	27	1	0	0	0	0	1	0	0	0	3663	1261	44	3	848	3	COCH	14	31354680	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		31354680	75994860	64	6954											
MGA	23269	genome.wustl.edu	37	chr15	42058227	42058227	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacttatttatgatgccAcgaattgttaatgtgacatc	12	14	8	7	2	0	2	0	2	0	0	1	5	0	2	1	0	1	1	1	0	4	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:42058227A>C	ENST00000570161.1	+	23	7947	c.7947A>C	c.(7945-7947)ccA>ccC	p.P2649P	MGA_ENST00000545763.1_Silent_p.P2440P|MGA_ENST00000219905.7_Silent_p.P2649P|MGA_ENST00000389936.4_Silent_p.P2610P|MGA_ENST00000566586.1_Silent_p.P2440P			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATGATGCCACGAATTGTTA	0.368																																																	0													85	79	81					15																	42058227		1838	4093	5931	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7947A>C	15.37:g.42058227A>C			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.P2649	ENST00000570161.1	37	c.7947	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	32	0	A	NM_001164273.1		42058227	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	33.33	24	12	SNP	1.000	C	C	42058227	A	C	42058227	2	2	27	1	0	0	0	0	0	0	0	1	9578	146	6	4		4	MGA	15	42058227	Silent	SNP	A	TCGA-IG-A5S3-01A-11D-A28B-09		42058227	60473165	65	6955											
GTF2A2	2958	genome.wustl.edu	37	chr15	59934415	59934415	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattcaacatcattcagtAcaaaagtccacacattatcg	16	11	4	10	1	3	1	3	1	0	0	5	1	4	1	1	0	2	1	1	0	6	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:59934415A>T	ENST00000396060.2	-	4	405	c.224T>A	c.(223-225)gTa>gAa	p.V75E	GTF2A2_ENST00000396064.3_Intron|GTF2A2_ENST00000396063.1_Missense_Mutation_p.V75E|GTF2A2_ENST00000484743.1_Missense_Mutation_p.V40E|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000267869.4_5'UTR|GTF2A2_ENST00000396061.1_Missense_Mutation_p.V75E	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	75					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						ATCATTCAGTACAAAAGTCCA	0.348																																																	0													148	142	144					15																	59934415		2190	4289	6479	SO:0001583	missense	0			BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"General transcription factors"	4647	protein-coding gene	gene with protein product		600519	"general transcription factor IIA, 2 (12kD subunit)"			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.224T>A	15.37:g.59934415A>T	ENSP00000379372:p.Val75Glu		A8MYQ7|Q6FGB5	Missense_Mutation	SNP	pfam_TFIIA_gsu_C,pfam_TFIIA_gsu_N,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pirsf_TFIIA_gsu	p.V75E	ENST00000396060.2	37	c.224	CCDS10173.1	15	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566372	0.86439	.	.	ENSG00000140307	ENST00000396060;ENST00000396063;ENST00000396061;ENST00000484743	.	.	.	5.48	5.48	0.80851	Transcription initiation factor IIA, gamma subunit, C-terminal (1);Transcription factor IIA, beta-barrel (2);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	L	0.52126	1.63	0.80722	D	1	B	0.29270	0.24	B	0.35727	0.209	T	0.64871	-0.6305	9	0.87932	D	0	-19.1341	15.8656	0.79063	1.0:0.0:0.0:0.0	.	75	P52657	T2AG_HUMAN	E	75;75;75;40	.	ENSP00000379372:V75E	V	-	2	0	GTF2A2	57721707	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.919000	0.92770	2.216000	0.71823	0.397000	0.26171	GTA	GTF2A2	-	pfam_TFIIA_gsu_C,superfamily_TFIIA_b-brl,pirsf_TFIIA_gsu	ENSG00000140307		0.348	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A2	HGNC	protein_coding	OTTHUMT00000256067.2	-	0	58	0	A	NM_004492		59934415	-1	tier1	-	no_errors	ENST00000396060	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	59934415	A	T	59934415	3	4	27	1	0	0	0	0	1	0	0	0	6881	391	14	5	113	5	GTF2A2	15	59934415	Missense_Mutation	SNP	A	TCGA-IG-A5S3-01A-11D-A28B-09	17876188	59934415	42596977	66	6956											
EFTUD1	79631	genome.wustl.edu	37	chr15	82554093	82554093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttttctggagttgaatCatcttatccaaactgttgag	9	17	9	6	0	3	2	1	2	2	0	4	3	4	3	1	1	1	3	1	1	3	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:82554093C>A	ENST00000268206.7	-	2	195	c.27G>T	c.(25-27)atG>atT	p.M9I	EFTUD1_ENST00000359445.3_Missense_Mutation_p.M9I|FAM154B_ENST00000566205.1_5'Flank|FAM154B_ENST00000427381.2_5'Flank|FAM154B_ENST00000566861.1_5'Flank|FAM154B_ENST00000565432.1_5'Flank|FAM154B_ENST00000339465.5_5'Flank	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	9					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGAGTTGAATCATCTTATCCA	0.348																																																	0													143	125	131					15																	82554093		1828	4098	5926	SO:0001583	missense	0			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.27G>T	15.37:g.82554093C>A	ENSP00000268206:p.Met9Ile		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.M9I	ENST00000268206.7	37	c.27	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974429	0.18736	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.75477	-0.94;-0.94	3.71	3.71	0.42584	.	0.265610	0.30969	N	0.008515	T	0.40448	0.1117	N	0.01086	-1.025	0.32412	N	0.550527	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43814	-0.9368	10	0.28530	T	0.3	-3.5302	6.4092	0.21682	0.0:0.7078:0.1889:0.1033	.	9;9	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	I	9	ENSP00000268206:M9I;ENSP00000352418:M9I	ENSP00000268206:M9I	M	-	3	0	EFTUD1	80341148	1.000000	0.71417	0.965000	0.40720	0.967000	0.64934	1.466000	0.35310	1.914000	0.55421	0.536000	0.68110	ATG	EFTUD1	-	superfamily_P-loop_NTPase	ENSG00000140598		0.348	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	-	0	81	0	C	NM_024580		82554093	-1	tier1	-	no_errors	ENST00000268206	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.988	A	A	82554093	C	A	82554093	3	1	27	1	0	0	0	0	1	0	0	0	4974	826	29	3	3411	3	EFTUD1	15	82554093	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	22619678	82554093	19977299	67	6957											
BNC1	646	genome.wustl.edu	37	chr15	83932769	83932769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcattggcatgtgcagccGagggttggggttggcgctat	5	12	17	7	2	1	0	1	0	0	0	1	1	1	0	1	5	2	6	1	5	1	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:83932769G>A	ENST00000345382.2	-	4	1319	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	BNC1_ENST00000569704.1_Missense_Mutation_p.R405W|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	412					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATGTGCAGCCGAGGGTTGGGG	0.532																																																	0													168	160	163					15																	83932769		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1234C>T	15.37:g.83932769G>A	ENSP00000307041:p.Arg412Trp		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R412W	ENST00000345382.2	37	c.1234	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683003	0.68157	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.58060	0.36	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.116831	0.56097	D	0.000035	T	0.71813	0.3384	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75059	-0.3451	10	0.87932	D	0	-29.6124	12.527	0.56091	0.0:0.0:0.7201:0.2799	.	405;412	F5GY04;Q01954	.;BNC1_HUMAN	W	412;405	ENSP00000307041:R412W	ENSP00000307041:R412W	R	-	1	2	BNC1	81723773	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.945000	0.63568	2.589000	0.87451	0.655000	0.94253	CGG	BNC1	-	smart_Znf_C2H2-like	ENSG00000169594		0.532	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0	37	0	G	NM_001717		83932769	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.997	A	A	83932769	G	A	83932769	3	1	27	1	0	0	0	0	1	0	0	0	1476	1057	37	1	1758	1	BNC1	15	83932769	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	1378676	83932769	18598623	68	6958											
ZDHHC1	29800	genome.wustl.edu	37	chr16	67440127	67440127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagccagcgggcacccagtgGtgaggcaggaggggaacaag	11	3	18	9	1	0	1	0	1	0	0	0	3	0	3	2	6	3	2	2	6	3	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:67440127G>A	ENST00000348579.2	-	3	569	c.228C>T	c.(226-228)caC>caT	p.H76H		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	76					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCACCCAGTGGTGAGGCAGGA	0.622																																																	0													53	40	44					16																	67440127		2198	4300	6498	SO:0001819	synonymous_variant	0			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"Zinc fingers, DHHC-type"	17916	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 1"	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.228C>T	16.37:g.67440127G>A			O15461	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.H76	ENST00000348579.2	37	c.228	CCDS10836.1	16																																																																																			ZDHHC1	-	NULL	ENSG00000159714		0.622	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	-	0	53	0	G	NM_013304		67440127	-1	tier1	-	no_errors	ENST00000348579	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.997	A	A	67440127	G	A	67440127	2	1	27	1	0	0	0	0	0	0	0	1	17648	1252	44	3		3	ZDHHC1	16	67440127	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		67440127	22914626	69	6959											
CENPT	80152	genome.wustl.edu	37	chr16	67866357	67866357	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcagtgggctgggtacttaCcctggctccatgggaacgcc	6	9	14	12	1	1	0	1	0	0	0	2	1	2	1	3	4	3	3	3	4	3	2			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:67866357C>A	ENST00000562787.1	-	5	750		c.e5+1		CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000445712.2_Splice_Site|CENPT_ENST00000440851.2_Splice_Site|CENPT_ENST00000219172.3_Splice_Site|CENPT_ENST00000564817.1_Splice_Site	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGGGTACTTACCCTGGCTCCA	0.607																																																	0													67	72	70					16																	67866357		1946	4132	6078	SO:0001630	splice_region_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.201+1G>T	16.37:g.67866357C>A			Q96I29|Q96IC6|Q96NK9|Q9H901	Splice_Site	SNP	-	e2+1	ENST00000562787.1	37	c.201+1	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764053	0.49574	.	.	ENSG00000102901	ENST00000440851;ENST00000219172	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0244	0.71656	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPT	66423858	0.987000	0.35691	0.969000	0.41365	0.025000	0.11179	3.290000	0.51755	2.824000	0.97209	0.655000	0.94253	.	CENPT	-	-	ENSG00000102901		0.607	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1	-	0	77	0	C	NM_025082	Intron	67866357	-1	tier1	-	no_errors	ENST00000219172	ensembl	human	known	74_37	splice_site	29.03	44	18	SNP	0.987	A	A	67866357	C	A	67866357	5	1	27	1	0	0	0	0	0	0	1	0	3249	521	18	3	1531	3	CENPT	16	67866357	Splice_Site	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	426230	67866357	22488396	70	6960											
PKD1L2	114780	genome.wustl.edu	37	chr16	81209275	81209275	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaaataactactgtcaGcacaaagtcattgttctcct	13	11	7	10	0	3	1	2	0	1	1	4	1	3	1	1	1	3	3	1	1	4	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:81209275G>T	ENST00000527937.1	-	0	399				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.L840V(2)|p.L155V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTACTGTCAGCACAAAGTCA	0.522																																																	3	Substitution - Missense(3)	lung(3)											113	113	113					16																	81209275		2062	4209	6271			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209275G>T			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.L840M	ENST00000527937.1	37	c.2518		16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.37|14.37	2.516050|2.516050	0.44763|0.44763	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000531391;ENST00000337114;ENST00000527937	.|T;T;T	.|0.34667	.|1.35;1.35;1.35	4.82|4.82	0.468|0.468	0.16732|0.16732	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.49864|0.49864	0.1582|0.1582	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|D;D;D	.|0.91635	.|0.964;0.996;0.999	T|T	0.34254|0.34254	-0.9836|-0.9836	4|9	.|0.87932	.|D	.|0	-5.877|-5.877	3.9734|3.9734	0.09464|0.09464	0.365:0.1733:0.4617:0.0|0.365:0.1733:0.4617:0.0	.|.	.|96;840;840	.|Q7Z442-6;Q7Z442-3;Q7Z442	.|.;.;PK1L2_HUMAN	D|M	367|155;840;96	.|ENSP00000436309:L155M;ENSP00000337397:L840M;ENSP00000432818:L96M	.|ENSP00000337397:L840M	A|L	-|-	2|1	0|2	PKD1L2|PKD1L2	79766776|79766776	0.315000|0.315000	0.24571|0.24571	0.959000|0.959000	0.39883|0.39883	0.645000|0.645000	0.38454|0.38454	0.066000|0.066000	0.14489|0.14489	0.086000|0.086000	0.17137|0.17137	0.455000|0.455000	0.32223|0.32223	GCT|CTG	PKD1L2	-	pfam_PKD/REJ-like,superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like	ENSG00000166473		0.522	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1		0	47	0	G			81209275	-1			no_errors	ENST00000337114	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.180	T	T	81209275	G	T	81209275	1	4	27	0	1	0	0	0	0	0	0	0	12004	962	34	3		3	PKD1L2	16	81209275	RNA	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	13342918	81209275	9145478	71	6961											
TP53	7157	genome.wustl.edu	37	chr17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc	9	5	10	17	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr17:7577105G>T	ENST00000269305.4	-	8	1022	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000420246.2_Missense_Mutation_p.P278H|TP53_ENST00000359597.4_Missense_Mutation_p.P278H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	GRCh37	CM961376	TP53	M							72	63	66					17																	7577105		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>A	17.37:g.7577105G>T	ENSP00000269305:p.Pro278His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278H	ENST00000269305.4	37	c.833	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532212	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	278;278;278;278;278;267;146	ENSP00000352610:P278H;ENSP00000269305:P278H;ENSP00000398846:P278H;ENSP00000391127:P278H;ENSP00000391478:P278H;ENSP00000425104:P146H	ENSP00000269305:P278H	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	42	0	G	NM_000546		7577105	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	80.56	7	29	SNP	1.000	T	T	7577105	G	T	7577105	3	4	27	1	0	0	0	0	1	0	0	0	16429	1000	35	3	453	3	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		7577105	73618105	72	6962											
KRT13	3860	genome.wustl.edu	37	chr17	39657566	39657566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattagaggtggtggtaacaGaggcactagaagtcgtggta	12	9	15	5	1	0	3	0	0	0	3	1	3	0	3	0	5	1	3	0	5	5	4			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr17:39657566G>A	ENST00000246635.3	-	8	1365	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_3'UTR|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	440	Tail.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGTGGTAACAGAGGCACTAGA	0.572																																																	0													71	53	59					17																	39657566		2198	4292	6490	SO:0001583	missense	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1319C>T	17.37:g.39657566G>A	ENSP00000246635:p.Ser440Phe		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S440F	ENST00000246635.3	37	c.1319	CCDS11396.1	17	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203774	0.06180	.	.	ENSG00000171401	ENST00000246635	D	0.83075	-1.68	0.468	-0.935	0.10423	.	2.254000	0.03239	U	0.180167	T	0.60261	0.2255	N	0.08118	0	0.09310	N	1	P	0.38078	0.617	B	0.23574	0.047	T	0.55630	-0.8111	9	0.36615	T	0.2	.	.	.	.	.	440	P13646	K1C13_HUMAN	F	440	ENSP00000246635:S440F	ENSP00000246635:S440F	S	-	2	0	KRT13	36911092	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.558000	0.23469	-0.489000	0.06716	-0.500000	0.04577	TCT	KRT13	-	NULL	ENSG00000171401		0.572	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	-	0	62	0	G	NM_153490		39657566	-1	tier1	-	no_errors	ENST00000246635	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A	A	39657566	G	A	39657566	3	1	27	1	0	0	0	0	1	0	0	0	8477	942	33	3	61	3	KRT13	17	39657566	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	32080461	39657566	41537644	73	6963											
FTSJ3	5705	genome.wustl.edu	37	chr17	61903427	61903427	+	5'Flank	DEL	G	G	-																															tcctattacctgcctacaacGttctgttgtgatgtcctgct																										TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr17:61903427delG	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.R97fs|PSMC5_ENST00000581882.1_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGCCTACAACGTTCTGTTGTG	0.458																																																	0													147	145	145					17																	61903427		2203	4300	6503	SO:0001631	upstream_gene_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903427delG	Exception_encountered		A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Frame_Shift_Del	DEL	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.R97fs	ENST00000310144.6	37	c.289	CCDS11645.1	17																																																																																			FTSJ3	-	pfam_rRNA_MeTrfase_FtsJ_dom	ENSG00000108592		0.458	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444404.1		0	53	0	G	NM_002805		61903427	-1	tier1		no_errors	ENST00000427159	ensembl	human	known	74_37	frame_shift_del	17.14	29	6	DEL	1.000	-	-	61903427	G	-	61903427	6	5	27	0	1	1	0	1	0	0	0	0	6113	1145	40	0		0	FTSJ3	17	61903427	5'Flank	DEL	G	TCGA-IG-A5S3-01A-11D-A28B-09	22245861	61903427	19291783	74	6964											
DSEL	92126	genome.wustl.edu	37	chr18	65181701	65181701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttggttgggtctgaaatCttgcactttctgtgttttaa	6	20	9	6	0	3	1	0	1	3	0	3	1	3	1	0	2	1	3	0	2	2	7			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr18:65181701C>G	ENST00000310045.7	-	2	1648	c.175G>C	c.(175-177)Gat>Cat	p.D59H	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	49					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGTCTGAAATCTTGCACTTTC	0.373																																																	0													119	111	114					18																	65181701		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.175G>C	18.37:g.65181701C>G	ENSP00000310565:p.Asp59His		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.D59H	ENST00000310045.7	37	c.175	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741042	0.69304	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25085	1.82	4.54	4.54	0.55810	.	0.542019	0.16716	U	0.202459	T	0.21801	0.0525	L	0.34521	1.04	0.28812	N	0.898157	P	0.37864	0.61	B	0.37198	0.243	T	0.11324	-1.0592	10	0.56958	D	0.05	-9.8959	13.1699	0.59591	0.0:0.9192:0.0:0.0808	.	49	Q8IZU8	DSEL_HUMAN	H	59;49	ENSP00000310565:D59H	ENSP00000310565:D59H	D	-	1	0	DSEL	63332681	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.528000	0.45624	2.261000	0.74972	0.561000	0.74099	GAT	DSEL	-	NULL	ENSG00000171451		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	27	0	C	NM_032160		65181701	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	21.74	17	5	SNP	0.776	G	G	65181701	C	G	65181701	3	3	27	1	0	0	0	0	1	0	0	0	4789	913	32	5	3497	5	DSEL	18	65181701	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		65181701	12895547	75	6965											
HAUS5	23354	genome.wustl.edu	37	chr19	36111189	36111189	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctggtgctgggatctactCcacatgaagaccagcctgcc	8	9	10	14	0	2	2	0	1	2	1	3	3	3	3	4	2	4	1	4	2	2	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:36111189C>A	ENST00000203166.5	+	17	1636	c.1611C>A	c.(1609-1611)ctC>ctA	p.L537L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	537					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGGATCTACTCCACATGAAGA	0.677																																																	0													16	19	18					19																	36111189		2031	4169	6200	SO:0001819	synonymous_variant	0			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1611C>A	19.37:g.36111189C>A			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.L537	ENST00000203166.5	37	c.1611	CCDS42550.1	19																																																																																			HAUS5	-	NULL	ENSG00000249115		0.677	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	-	0	78	0	C			36111189	1	tier1	-	no_errors	ENST00000203166	ensembl	human	known	74_37	silent	39.29	34	22	SNP	0.006	A	A	36111189	C	A	36111189	2	1	27	1	0	0	0	0	0	0	0	1	6996	842	30	3		3	HAUS5	19	36111189	Silent	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		36111189	23017794	76	6966											
C19orf55	148137	genome.wustl.edu	37	chr19	36258937	36258937	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaggccctgcttgcccAgggccgccctgctgctgcag	3	7	14	17	2	0	0	0	0	0	0	1	1	0	1	4	3	5	4	4	3	0	1	rs398034467|rs5827939		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:36258937A>C	ENST00000544099.1	+	9	1253	c.1190A>C	c.(1189-1191)cAg>cCg	p.Q397P	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000396908.4_Splice_Site_p.Q397P			Q2NL68	PRSR3_HUMAN		326										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCTTGCCCAGGGCCGCCCT	0.736																																																	0													7	8	8					19																	36258937		1853	3997	5850	SO:0001583	missense	0																														ENST00000544099.1:c.1190A>C	19.37:g.36258937A>C	ENSP00000467267:p.Gln397Pro		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	NULL	p.Q397P	ENST00000544099.1	37	c.1190		19	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973523	0.53720	.	.	ENSG00000167595	ENST00000396908	T	0.40756	1.02	4.37	3.35	0.38373	.	.	.	.	.	T	0.42381	0.1200	L	0.59436	1.845	0.20764	N	0.999857	P	0.43231	0.801	P	0.45428	0.48	T	0.20371	-1.0277	9	0.38643	T	0.18	-0.9655	7.3595	0.26737	0.8061:0.0:0.0:0.1939	.	397	E5RFB9	.	P	397	ENSP00000380116:Q397P	ENSP00000380116:Q397P	Q	+	2	0	C19orf55	40950777	0.855000	0.29742	0.777000	0.31699	0.011000	0.07611	1.166000	0.31834	0.988000	0.38734	0.460000	0.39030	CAG	C19orf55	-	NULL	ENSG00000167595		0.736	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2		0	16	0	A			36258937	1			no_errors	ENST00000396908	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.791	C	C	36258937	A	C	36258937	3	2	27	1	0	0	0	0	1	0	0	0	1944	188	7	4	1224	4	C19orf55	19	36258937	Missense_Mutation	SNP	A	TCGA-IG-A5S3-01A-11D-A28B-09	147748	36258937	22870046	77	6967											
KCNA7	3743	genome.wustl.edu	37	chr19	49574060	49574060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacacagcgtctccaccaCgaagaacgggtcattgaagg	14	6	10	11	3	2	2	1	1	1	1	3	3	2	2	2	2	3	0	2	2	5	2	rs531366512		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:49574060C>T	ENST00000221444.1	-	2	986	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	211					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V211M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GTCTCCACCACGAAGAACGGG	0.547													C|||	1	0.000199681	0	0	5008	,	,		20216	0		0	False		,,,				2504	0.001				Colon(74;686 1235 3793 23366 48562)												1	Substitution - Missense(1)	endometrium(1)											117	83	94					19																	49574060		2203	4300	6503	SO:0001583	missense	0			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.631G>A	19.37:g.49574060C>T	ENSP00000221444:p.Val211Met		A1KYX7|Q9BYS4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.V211M	ENST00000221444.1	37	c.631	CCDS12755.1	19	.	.	.	.	.	.	.	.	.	.	C	5.637	0.302142	0.10678	.	.	ENSG00000104848	ENST00000221444	D	0.97791	-4.54	4.49	-1.09	0.09904	.	0.733621	0.13026	N	0.419703	D	0.91991	0.7463	L	0.35542	1.07	0.25912	N	0.983221	P	0.44260	0.83	B	0.38500	0.275	D	0.87069	0.2158	10	0.27082	T	0.32	.	1.4018	0.02272	0.1389:0.3473:0.2734:0.2404	.	211	Q96RP8	KCNA7_HUMAN	M	211	ENSP00000221444:V211M	ENSP00000221444:V211M	V	-	1	0	KCNA7	54265872	0.005000	0.15991	0.981000	0.43875	0.122000	0.20287	-0.204000	0.09425	0.066000	0.16515	0.313000	0.20887	GTG	KCNA7	-	prints_K_chnl	ENSG00000104848		0.547	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	HGNC	protein_coding	OTTHUMT00000466263.1	-	0	64	0	C	NM_031886		49574060	-1	tier1	-	no_errors	ENST00000221444	ensembl	human	known	74_37	missense	36.11	46	26	SNP	0.976	T	T	49574060	C	T	49574060	3	4	27	1	0	0	0	0	1	0	0	0	8035	536	19	1	743	1	KCNA7	19	49574060	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	13315123	49574060	9554923	78	6968											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3672113	3672113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcacaggctccgcgtGcagccgccggtcattccaga	7	6	14	14	4	1	1	1	0	0	1	3	1	3	1	4	3	2	3	4	3	0	1			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr20:3672113G>A	ENST00000344754.4	-	17	4464	c.4465C>T	c.(4465-4467)Cac>Tac	p.H1489Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H1489Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1489	Ig-like C2-type 15.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCTCCGCGTGCAGCCGCCGG	0.677																																																	0													66	67	66					20																	3672113		2203	4299	6502	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4465C>T	20.37:g.3672113G>A	ENSP00000341141:p.His1489Tyr		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H1489Y	ENST00000344754.4	37	c.4465	CCDS13060.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.004|0.004	-2.241323|-2.241323	0.00274|0.00274	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.24350	.|1.9;1.86	5.34|5.34	2.11|2.11	0.27256|0.27256	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.718717	.|0.12028	.|N	.|0.506258	T|T	0.22589|0.22589	0.0545|0.0545	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.08055	.|0.002;0.003	T|T	0.23511|0.23511	-1.0186|-1.0186	5|10	.|0.37606	.|T	.|0.19	.|.	3.8118|3.8118	0.08799|0.08799	0.0893:0.1636:0.5781:0.169|0.0893:0.1636:0.5781:0.169	.|.	.|1489;1489	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	V|Y	302|1489	.|ENSP00000341141:H1489Y;ENSP00000202578:H1489Y	.|ENSP00000202578:H1489Y	A|H	-|-	2|1	0|0	SIGLEC1|SIGLEC1	3620113|3620113	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	0.941000|0.941000	0.29005|0.29005	0.728000|0.728000	0.32382|0.32382	0.655000|0.655000	0.94253|0.94253	GCA|CAC	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000088827		0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0	53	0	G	NM_023068		3672113	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	31.71	56	26	SNP	0.001	A	A	3672113	G	A	3672113	3	1	27	1	0	0	0	0	1	0	0	0	14350	1319	46	3	684	3	SIGLEC1	20	3672113	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		3672113	59353407	79	6969											
KCNB1	3745	genome.wustl.edu	37	chr20	48098775	48098775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcggtcaaagaagtactcGttgtcgtcgaggctgtagtc	8	11	14	8	4	1	1	1	0	0	1	5	2	1	1	0	3	1	4	0	3	4	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr20:48098775G>A	ENST00000371741.4	-	1	409	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	81					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGAAGTACTCGTTGTCGTCGA	0.642																																																	0													43	34	37					20																	48098775		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.243C>T	20.37:g.48098775G>A			Q14193	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.N81	ENST00000371741.4	37	c.243	CCDS13418.1	20																																																																																			KCNB1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv8	ENSG00000158445		0.642	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	-	0	29	0	G	NM_004975		48098775	-1	tier1	-	no_errors	ENST00000371741	ensembl	human	known	74_37	silent	50.00	25	25	SNP	1.000	A	A	48098775	G	A	48098775	2	1	27	1	0	0	0	0	0	0	0	1	8039	1136	40	1		1	KCNB1	20	48098775	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	44426662	48098775	14926745	80	6970											
ZNF831	128611	genome.wustl.edu	37	chr20	57766999	57766999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagaagtcgccgaccGccgggaagccgtgcgccctg	8	3	15	15	6	0	2	0	0	0	2	1	4	0	3	5	1	3	1	5	1	2	0			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr20:57766999G>A	ENST00000371030.2	+	1	925	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	309							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCGCCGACCGCCGGGAAGCC	0.701																																																	0													15	20	18					20																	57766999		1882	4028	5910	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.925G>A	20.37:g.57766999G>A	ENSP00000360069:p.Ala309Thr		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A309T	ENST00000371030.2	37	c.925	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182433	0.21870	.	.	ENSG00000124203	ENST00000371030	T	0.04862	3.54	4.2	2.19	0.27852	.	.	.	.	.	T	0.05823	0.0152	L	0.44542	1.39	0.09310	N	1	B	0.27351	0.176	B	0.15484	0.013	T	0.34378	-0.9831	9	0.72032	D	0.01	.	5.6877	0.17813	0.0927:0.0:0.5605:0.3469	.	309	Q5JPB2	ZN831_HUMAN	T	309	ENSP00000360069:A309T	ENSP00000360069:A309T	A	+	1	0	ZNF831	57200394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.061000	0.14366	0.236000	0.21180	0.655000	0.94253	GCC	ZNF831	-	NULL	ENSG00000124203		0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2		0	32	0	G	NM_178457		57766999	1			no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	12.12	58	8	SNP	0.000	A	A	57766999	G	A	57766999	3	1	27	1	0	0	0	0	1	0	0	0	18233	1087	38	1	927	1	ZNF831	20	57766999	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	9668224	57766999	5258521	81	6971											
KRTAP13-2	337959	genome.wustl.edu	37	chr21	31744251	31744251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagacccagagtaagtcGtcttgcaaggactgcagagc	12	7	12	10	1	1	3	0	0	1	3	2	5	1	4	1	1	3	3	1	1	3	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr21:31744251G>A	ENST00000399889.2	-	1	306	c.281C>T	c.(280-282)aCg>aTg	p.T94M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	94	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.T94M(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGAGTAAGTCGTCTTGCAAGG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											62	61	62					21																	31744251		2203	4300	6503	SO:0001583	missense	0			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"Keratin associated proteins"	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.281C>T	21.37:g.31744251G>A	ENSP00000382777:p.Thr94Met			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.T94M	ENST00000399889.2	37	c.281	CCDS13589.1	21	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504543	0.44558	.	.	ENSG00000182816	ENST00000399889	T	0.03663	3.85	4.57	-5.79	0.02354	.	0.716625	0.11867	N	0.521762	T	0.04363	0.0120	M	0.64997	1.995	0.09310	N	1	D	0.56035	0.974	P	0.46237	0.508	T	0.02966	-1.1088	10	0.59425	D	0.04	.	1.8824	0.03231	0.3431:0.3485:0.1882:0.1202	.	94	Q52LG2	KR132_HUMAN	M	94	ENSP00000382777:T94M	ENSP00000382777:T94M	T	-	2	0	KRTAP13-2	30666122	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.412000	0.07132	-1.134000	0.02899	0.655000	0.94253	ACG	KRTAP13-2	-	pfam_KRTAP_PMG	ENSG00000182816		0.617	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-2	HGNC	protein_coding	OTTHUMT00000128245.1	-	0	101	0	G			31744251	-1	tier1	-	no_errors	ENST00000399889	ensembl	human	known	74_37	missense	32.10	55	26	SNP	0.000	A	A	31744251	G	A	31744251	3	1	27	1	0	0	0	0	1	0	0	0	8550	1145	40	1	250	1	KRTAP13-2	21	31744251	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09		31744251	16385644	82	6972											
SCUBE1	80274	genome.wustl.edu	37	chr22	43617211	43617211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggcggtctcctttgctCgtgcctggctgtggggccgg	0	11	17	13	3	1	0	0	0	1	0	3	0	1	0	4	6	2	2	4	6	0	1	rs140525929		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr22:43617211C>T	ENST00000360835.4	-	13	1643	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	506					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTCCTTTGCTCGTGCCTGGCT	0.637																																																	0								C	GLN/ARG	0,4406		0,0,2203	30	34	33		1517	-1.5	0	22	dbSNP_134	33	1,8595	1.2+/-3.3	0,1,4297	no	missense	SCUBE1	NM_173050.3	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	506/989	43617211	1,13001	2203	4298	6501	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1517G>A	22.37:g.43617211C>T	ENSP00000354080:p.Arg506Gln		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R506Q	ENST00000360835.4	37	c.1517	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719652	0.15372	0.0	1.16E-4	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.84800	-1.9	4.68	-1.49	0.08718	.	0.308177	0.33309	N	0.005046	T	0.68668	0.3026	L	0.33485	1.01	0.25261	N	0.989595	B	0.14438	0.01	B	0.09377	0.004	T	0.51164	-0.8740	10	0.09338	T	0.73	.	5.6451	0.17584	0.0:0.1744:0.3874:0.4382	.	506	Q8IWY4	SCUB1_HUMAN	Q	506;136	ENSP00000354080:R506Q	ENSP00000354080:R506Q	R	-	2	0	SCUBE1	41947155	0.000000	0.05858	0.024000	0.17045	0.024000	0.10985	0.710000	0.25748	-0.036000	0.13669	-0.140000	0.14226	CGA	SCUBE1	-	NULL	ENSG00000159307		0.637	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	-	0	210	0	C	NM_173050		43617211	-1	tier1	rs140525929	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	44.19	48	38	SNP	0.048	T	T	43617211	C	T	43617211	3	4	27	1	0	0	0	0	1	0	0	0	13989	884	31	1	1489	1	SCUBE1	22	43617211	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		43617211	7687355	83	6973											
MIOX	55586	genome.wustl.edu	37	chr22	50927860	50927860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaagtttaacaagttCtcactgccccctgaggtagg	10	11	11	9	0	1	3	1	3	1	0	2	3	1	3	2	2	2	3	2	2	4	4	rs555088706		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr22:50927860C>A	ENST00000216075.6	+	8	695	c.621C>A	c.(619-621)ttC>ttA	p.F207L	MIOX_ENST00000395732.3_Missense_Mutation_p.F207L|MIOX_ENST00000395733.3_Intron	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	207					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTAACAAGTTCTCACTGCCCC	0.672																																																	0													27	21	23					22																	50927860		2203	4299	6502	SO:0001583	missense	0			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.621C>A	22.37:g.50927860C>A	ENSP00000216075:p.Phe207Leu		Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	pfam_Inositol_oxygenase	p.F207L	ENST00000216075.6	37	c.621	CCDS14092.1	22	.	.	.	.	.	.	.	.	.	.	c	11.70	1.716834	0.30413	.	.	ENSG00000100253	ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	5.13	5.13	0.70059	.	0.106709	0.64402	D	0.000005	T	0.41213	0.1149	L	0.44542	1.39	0.27390	N	0.955168	B;B	0.26445	0.149;0.05	B;B	0.30782	0.12;0.084	T	0.43475	-0.9389	9	0.66056	D	0.02	12.2031	9.7288	0.40348	0.0:0.9047:0.0:0.0953	.	207;207	A6PVH2;Q9UGB7	.;MIOX_HUMAN	L	207;207;187	.	ENSP00000216075:F207L	F	+	3	2	MIOX	49274726	0.983000	0.35010	1.000000	0.80357	0.554000	0.35429	1.942000	0.40243	2.400000	0.81607	0.645000	0.84053	TTC	MIOX	-	pfam_Inositol_oxygenase	ENSG00000100253		0.672	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOX	HGNC	protein_coding	OTTHUMT00000316835.1	-	0	84	0	C	NM_017584		50927860	1	tier1	-	no_errors	ENST00000216075	ensembl	human	known	74_37	missense	35.19	35	19	SNP	1.000	A	A	50927860	C	A	50927860	3	1	27	1	0	0	0	0	1	0	0	0	9628	912	32	3	651	3	MIOX	22	50927860	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09	7310649	50927860	376706	84	6974											
EIF2S3	1968	genome.wustl.edu	37	chrX	24075597	24075597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaagctatttctggagttCatactgtcaggttcaaaaat	13	14	7	7	0	5	0	4	0	1	0	5	1	5	1	0	2	2	3	0	2	5	5			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrX:24075597C>T	ENST00000253039.4	+	3	446	c.193C>T	c.(193-195)Cat>Tat	p.H65Y		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	65	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TTCTGGAGTTCATACTGTCAG	0.348																																																	0													69	66	67					X																	24075597		2203	4300	6503	SO:0001583	missense	0			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.193C>T	X.37:g.24075597C>T	ENSP00000253039:p.His65Tyr		B5BTZ4	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.H65Y	ENST00000253039.4	37	c.193	CCDS14210.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.08|15.08	2.727699|2.727699	0.48833|0.48833	.|.	.|.	ENSG00000130741|ENSG00000130741	ENST00000253039|ENST00000423068	T|.	0.61859|.	0.07|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73179|0.73179	0.3554|0.3554	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|.	0.16802|.	0.019|.	B|.	0.23275|.	0.045|.	T|T	0.72040|0.72040	-0.4410|-0.4410	10|5	0.06891|.	T|.	0.86|.	.|.	18.1221|18.1221	0.89574|0.89574	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65|.	P41091|.	IF2G_HUMAN|.	Y|L	65|64	ENSP00000253039:H65Y|.	ENSP00000253039:H65Y|.	H|S	+|+	1|2	0|0	EIF2S3|EIF2S3	23985518|23985518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	7.401000|7.401000	0.79962|0.79962	2.303000|2.303000	0.77524|0.77524	0.513000|0.513000	0.50165|0.50165	CAT|TCA	EIF2S3	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000130741		0.348	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S3	HGNC	protein_coding	OTTHUMT00000056079.1	-	0	65	0	C	NM_001415		24075597	1	tier1	-	no_errors	ENST00000253039	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	T	T	24075597	C	T	24075597	3	4	27	1	0	0	0	0	1	0	0	0	5025	826	29	3	203	3	EIF2S3	23	24075597	Missense_Mutation	SNP	C	TCGA-IG-A5S3-01A-11D-A28B-09		24075597	131194963	85	6975											
NYX	60506	genome.wustl.edu	37	chrX	41332755	41332755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccgcagcggtggtcctcGgcctgcccagcgcctgggcc	2	6	14	19	4	0	0	0	0	0	0	3	0	2	0	7	4	3	1	7	4	0	0			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrX:41332755G>A	ENST00000342595.2	+	2	505	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	NYX_ENST00000486842.1_3'UTR|NYX_ENST00000378220.1_Missense_Mutation_p.G17S	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	17					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GGTGGTCCTCGGCCTGCCCAG	0.697																																																	0													1	1	1					X																	41332755		724	1563	2287	SO:0001583	missense	0			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.49G>A	X.37:g.41332755G>A	ENSP00000340328:p.Gly17Ser		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G17S	ENST00000342595.2	37	c.49	CCDS14256.1	X	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491173	0.12702	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.58358	0.34;0.34	4.86	-1.76	0.08006	.	0.734274	0.13934	N	0.352657	T	0.25717	0.0626	N	0.08118	0	0.09310	N	0.999996	B	0.16166	0.016	B	0.09377	0.004	T	0.18272	-1.0342	10	0.20519	T	0.43	.	8.5935	0.33701	0.0984:0.0:0.1766:0.725	.	17	Q9GZU5	NYX_HUMAN	S	17	ENSP00000340328:G17S;ENSP00000367465:G17S	ENSP00000340328:G17S	G	+	1	0	NYX	41217699	0.001000	0.12720	0.014000	0.15608	0.091000	0.18340	-0.011000	0.12721	-0.324000	0.08589	-0.353000	0.07706	GGC	NYX	-	NULL	ENSG00000188937		0.697	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1		0	36	0	G	NM_022567		41332755	1			no_errors	ENST00000342595	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.186	A	A	41332755	G	A	41332755	3	1	27	1	0	0	0	0	1	0	0	0	10836	1116	39	1	55	1	NYX	23	41332755	Missense_Mutation	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	17257158	41332755	113937805	86	6976											
AWAT1	158833	genome.wustl.edu	37	chrX	69454560	69454560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatcatggctcattccaaGcagcctagtcacttccagag	12	9	8	12	0	3	2	3	0	0	2	5	2	5	2	3	1	2	2	3	1	3	3			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrX:69454560G>A	ENST00000374521.3	+	1	56	c.15G>A	c.(13-15)aaG>aaA	p.K5K	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	5					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTCATTCCAAGCAGCCTAGTC	0.507																																																	0													126	96	106					X																	69454560		2203	4300	6503	SO:0001819	synonymous_variant	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.15G>A	X.37:g.69454560G>A			Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.K5	ENST00000374521.3	37	c.15	CCDS35321.1	X																																																																																			AWAT1	-	NULL	ENSG00000204195		0.507	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	-	0	69	0	G	NM_001013579		69454560	1	tier1	-	no_errors	ENST00000374521	ensembl	human	known	74_37	silent	10.17	53	6	SNP	0.048	A	A	69454560	G	A	69454560	2	1	27	1	0	0	0	0	0	0	0	1	1235	962	34	3		3	AWAT1	23	69454560	Silent	SNP	G	TCGA-IG-A5S3-01A-11D-A28B-09	28121805	69454560	85816000	87	6977											
APITD1	1325	genome.wustl.edu	37	chr1	10511557	10511557	+	Frame_Shift_Del	DEL	A	A	-																															aggaagcccgggaggtggccAggcggcaggaaggcgcaccc																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:10511557delA	ENST00000377049.3	+	2	728	c.223delA	c.(223-225)aggfs	p.R76fs	APITD1-CORT_ENST00000400900.2_Frame_Shift_Del_p.R135fs|APITD1_ENST00000602787.1_Frame_Shift_Del_p.R135fs|APITD1_ENST00000602296.1_3'UTR|APITD1-CORT_ENST00000470413.2_3'UTR|APITD1-CORT_ENST00000465026.1_3'UTR|CORT_ENST00000320498.4_Frame_Shift_Del_p.R126fs	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin	76					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GGAGGTGGCCAGGCGGCAGGA	0.612																																																	0													22	28	26					1																	10511557		2202	4300	6502	SO:0001589	frameshift_variant	0			AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"Endogenous ligands"	2257	protein-coding gene	gene with protein product	"prepro-cortistatin"	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.223delA	1.37:g.10511557delA	ENSP00000366248:p.Arg76fs		Q5T6G0|Q6UX11	Frame_Shift_Del	DEL	pfam_Somatostatin/Cortistatin_C,superfamily_Histone-fold	p.R134fs	ENST00000377049.3	37	c.400	CCDS117.2	1																																																																																			APITD1-CORT	-	NULL	ENSG00000251503		0.612	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	APITD1-CORT	HGNC	protein_coding	OTTHUMT00000005410.3		0	49	0	A	NM_001302		10511557	1	tier1		no_errors	ENST00000400900	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.014	-	-	10511557	A	-	10511557	7	5	28	1	0	1	0	1	0	0	0	0	775	179	7	0	563	0	APITD1	1	10511557	Frame_Shift_Del	DEL	A	TCGA-IG-A625-01A-11D-A31U-09		10511557	238739064	1	6978											
UBR4	23352	genome.wustl.edu	37	chr1	19487548	19487548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggaggtgctggcatgacGcactagactctctgaaatcc	10	8	12	11	2	1	3	0	2	1	1	3	5	2	4	1	3	1	3	1	3	2	1	rs369538801		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:19487548G>A	ENST00000375254.3	-	38	5296	c.5269C>T	c.(5269-5271)Cgt>Tgt	p.R1757C	UBR4_ENST00000375267.2_Missense_Mutation_p.R1757C|UBR4_ENST00000375217.2_Missense_Mutation_p.R1757C|UBR4_ENST00000375226.2_Missense_Mutation_p.R1757C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1757					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1757C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGGCATGACGCACTAGACTC	0.537																																																	1	Substitution - Missense(1)	pancreas(1)						G	CYS/ARG	0,4406		0,0,2203	97	82	87		5269	5	1	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	UBR4	NM_020765.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1757/5184	19487548	1,13005	2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5269C>T	1.37:g.19487548G>A	ENSP00000364403:p.Arg1757Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R1757C	ENST00000375254.3	37	c.5269	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631530	0.87660	0.0	1.16E-4	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.25912	1.79;1.79;1.78;1.77	5.93	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.39099	-0.9630	10	0.72032	D	0.01	.	16.2685	0.82603	0.0:0.0:0.8665:0.1335	.	1757	Q5T4S7	UBR4_HUMAN	C	1757;1757;1757;1757;467;973	ENSP00000364403:R1757C;ENSP00000364416:R1757C;ENSP00000364365:R1757C;ENSP00000364374:R1757C	ENSP00000364365:R1757C	R	-	1	0	UBR4	19360135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.295000	0.72744	1.463000	0.47967	0.655000	0.94253	CGT	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.537	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1		0	33	0	G	NM_020765		19487548	-1			no_errors	ENST00000375267	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	19487548	G	A	19487548	3	1	28	1	0	0	0	0	1	0	0	0	16953	1087	38	1	10558	1	UBR4	1	19487548	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	8975991	19487548	229763073	2	6979											
LDLRAP1	26119	genome.wustl.edu	37	chr1	25881428	25881428	+	Frame_Shift_Del	DEL	C	C	-																															attatcctgacagacaacctCaccaaccagctcattgagaa																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:25881428delC	ENST00000374338.4	+	3	428	c.309delC	c.(307-309)ctcfs	p.L103fs	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	103	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACAACCTCACCAACCAGC	0.557																																																	0													114	100	104					1																	25881428		2203	4300	6503	SO:0001589	frameshift_variant	0			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.309delC	1.37:g.25881428delC	ENSP00000363458:p.Leu103fs		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Frame_Shift_Del	DEL	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.T104fs	ENST00000374338.4	37	c.309	CCDS30639.1	1																																																																																			LDLRAP1	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000157978		0.557	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3		0	35	0	C	NM_015627		25881428	1	tier1		no_errors	ENST00000374338	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.996	-	-	25881428	C	-	25881428	7	5	28	1	0	1	0	1	0	0	0	0	8736	813	29	0	319	0	LDLRAP1	1	25881428	Frame_Shift_Del	DEL	C	TCGA-IG-A625-01A-11D-A31U-09	6393880	25881428	223369193	3	6980											
PUM1	9698	genome.wustl.edu	37	chr1	31418206	31418206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttacctgtcccttaaacGcatcgatgataaattgcaaa	14	11	5	11	2	0	1	0	1	0	0	2	2	1	1	2	0	3	2	2	0	6	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:31418206G>A	ENST00000257075.5	-	18	3068	c.2975C>T	c.(2974-2976)gCg>gTg	p.A992V	PUM1_ENST00000440538.2_Missense_Mutation_p.A968V|PUM1_ENST00000423018.2_Missense_Mutation_p.A850V|PUM1_ENST00000424085.2_Missense_Mutation_p.A750V|PUM1_ENST00000373741.4_Missense_Mutation_p.A1030V|PUM1_ENST00000373742.2_Missense_Mutation_p.A933V|PUM1_ENST00000426105.2_Missense_Mutation_p.A994V|PUM1_ENST00000373747.3_Missense_Mutation_p.A995V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	992	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCTTAAACGCATCGATGAT	0.408																																																	0													133	125	128					1																	31418206		2203	4300	6503	SO:0001583	missense	0			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.2975C>T	1.37:g.31418206G>A	ENSP00000257075:p.Ala992Val		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.A994V	ENST00000257075.5	37	c.2981	CCDS338.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.187786	0.94923	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846	T;T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.05	5.05	0.67936	Armadillo-like helical (1);Armadillo-type fold (1);	0.097698	0.64402	D	0.000001	T	0.53110	0.1776	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.981;0.999;0.998;0.989;0.998;1.0	P;D;P;P;P;P;P;D	0.72338	0.849;0.913;0.612;0.845;0.849;0.719;0.849;0.977	T	0.65689	-0.6107	10	0.87932	D	0	-5.9052	18.5995	0.91242	0.0:0.0:1.0:0.0	.	933;850;1030;968;992;994;995;994	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	V	750;992;995;732;994;968;1030;850;933;145	ENSP00000400141:A750V;ENSP00000257075:A992V;ENSP00000362852:A995V;ENSP00000391723:A994V;ENSP00000401777:A968V;ENSP00000362846:A1030V;ENSP00000399440:A850V;ENSP00000362847:A933V;ENSP00000431213:A145V	ENSP00000257075:A992V	A	-	2	0	PUM1	31190793	1.000000	0.71417	0.969000	0.41365	0.811000	0.45836	9.657000	0.98554	2.622000	0.88805	0.650000	0.86243	GCG	PUM1	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	ENSG00000134644		0.408	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1		0	50	0	G			31418206	-1			no_errors	ENST00000426105	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	31418206	G	A	31418206	3	1	28	1	0	0	0	0	1	0	0	0	12870	1087	38	1	605	1	PUM1	1	31418206	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	5536778	31418206	217832415	4	6981											
S100PBP	64766	genome.wustl.edu	37	chr1	33292385	33292385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtctctgataaaaatatgCctgacagtgagaaccctacg	13	10	8	10	1	1	3	0	3	1	1	2	4	1	3	2	0	3	0	2	0	6	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:33292385C>T	ENST00000373475.5	+	3	939	c.685C>T	c.(685-687)Cct>Tct	p.P229S	S100PBP_ENST00000398243.3_Missense_Mutation_p.P229S|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.P229S	NM_022753.3	NP_073590.2			S100P binding protein											endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TAAAAATATGCCTGACAGTGA	0.448																																																	0													73	76	75					1																	33292385		2203	4300	6503	SO:0001583	missense	0			BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"S100P binding protein 1"	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.685C>T	1.37:g.33292385C>T	ENSP00000362574:p.Pro229Ser			Missense_Mutation	SNP	NULL	p.P229S	ENST00000373475.5	37	c.685	CCDS30666.1	1	.	.	.	.	.	.	.	.	.	.	C	3.529	-0.096200	0.07010	.	.	ENSG00000116497	ENST00000373476;ENST00000373475;ENST00000531123;ENST00000398243;ENST00000356689	.	.	.	5.63	1.53	0.23141	.	0.645747	0.15312	N	0.269015	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.12156	0.007;0.005	T	0.19647	-1.0299	8	.	.	.	-0.142	2.0177	0.03501	0.1615:0.504:0.1564:0.1782	.	229;229	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	S	229	.	.	P	+	1	0	S100PBP	33064972	0.000000	0.05858	0.504000	0.27639	0.138000	0.21146	-0.878000	0.04192	0.094000	0.17404	-0.150000	0.13652	CCT	S100PBP	-	NULL	ENSG00000116497		0.448	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100PBP	HGNC	protein_coding	OTTHUMT00000011266.1	-	0	29	0	C	NM_022753		33292385	1	tier1	-	no_errors	ENST00000373475	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.009	T	T	33292385	C	T	33292385	3	4	28	1	0	0	0	0	1	0	0	0	13836	739	26	3	687	3	S100PBP	1	33292385	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	1874179	33292385	215958236	5	6982											
LRP8	7804	genome.wustl.edu	37	chr1	53715213	53715214	+	Frame_Shift_Ins	INS	-	-	AA																															tctgcccacagtgggcgatcINSaaagctgctgattgcctgac																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:53715213_53715214insAA	ENST00000306052.6	-	18	2792_2793	c.2691_2692insTT	c.(2689-2694)tttgatfs	p.D898fs	LRP8_ENST00000354412.3_Intron|LRP8_ENST00000465675.1_Intron|LRP8_ENST00000371454.2_Intron|LRP8_ENST00000347547.2_Frame_Shift_Ins_p.D728fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	898					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						agtgggcgatcaAAGCTGCTGA	0.594																																																	0																																										SO:0001589	frameshift_variant	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2690_2691dupTT	1.37:g.53715214_53715215dupAA	ENSP00000303634:p.Asp898fs		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D897fs	ENST00000306052.6	37	c.2692_2691	CCDS578.1	1																																																																																			LRP8	-	NULL	ENSG00000157193		0.594	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1		0	31	0	-	NM_004631		53715214	-1	tier1		no_errors	ENST00000306052	ensembl	human	known	74_37	frame_shift_ins	28.57	25	10	INS	1.000:1.000	AA	AA	53715214	-	AA	53715213	7	5	28	1	0	1	1	0	0	0	0	0	8998	826	29	0	207	0	LRP8	1	53715213	Frame_Shift_Ins	INS	-	TCGA-IG-A625-01A-11D-A31U-09	20422828	53715213	195535408	6	6983											
DMRTB1	63948	genome.wustl.edu	37	chr1	53927253	53927253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggctacctggacgcccctCctggcgtccccctgcagcag	4	7	12	18	2	0	0	0	0	0	0	2	1	2	1	6	3	3	3	6	3	1	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:53927253C>T	ENST00000371445.3	+	2	740	c.685C>T	c.(685-687)Cct>Tct	p.P229S	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	229	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GGACGCCCCTCCTGGCGTCCC	0.662																																																	0													65	59	61					1																	53927253		2203	4300	6503	SO:0001583	missense	0			AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.685C>T	1.37:g.53927253C>T	ENSP00000360500:p.Pro229Ser		Q96SD2	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.P229S	ENST00000371445.3	37	c.685	CCDS581.1	1	.	.	.	.	.	.	.	.	.	.	C	9.703	1.154959	0.21371	.	.	ENSG00000143006	ENST00000371445;ENST00000431335	T	0.29655	1.56	4.79	-6.61	0.01818	.	0.718405	0.12348	N	0.476828	T	0.15955	0.0384	L	0.39898	1.24	0.09310	N	1	B	0.18310	0.027	B	0.11329	0.006	T	0.21484	-1.0244	10	0.54805	T	0.06	0.3702	0.8162	0.01103	0.2182:0.1577:0.323:0.3011	.	229	Q96MA1	DMRTB_HUMAN	S	229;76	ENSP00000360500:P229S	ENSP00000360500:P229S	P	+	1	0	DMRTB1	53699841	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	-0.085000	0.11250	-1.252000	0.02491	0.655000	0.94253	CCT	DMRTB1	-	NULL	ENSG00000143006		0.662	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTB1	HGNC	protein_coding	OTTHUMT00000022110.1	-	0	30	0	C			53927253	1	tier1	-	no_errors	ENST00000371445	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	T	T	53927253	C	T	53927253	3	4	28	1	0	0	0	0	1	0	0	0	4604	855	30	3	691	3	DMRTB1	1	53927253	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	212040	53927253	195323368	7	6984											
ATP1A1	476	genome.wustl.edu	37	chr1	116932186	116932186	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgaacattttatccacAtcatcacgggtgtggctgtg	11	13	9	8	1	2	1	2	1	0	0	3	1	3	1	1	2	1	1	1	2	3	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:116932186A>T	ENST00000295598.5	+	8	1132	c.880A>T	c.(880-882)Atc>Ttc	p.I294F	ATP1A1_ENST00000369496.4_Missense_Mutation_p.I263F|ATP1A1_ENST00000537345.1_Missense_Mutation_p.I294F|ATP1A1_ENST00000491156.1_3'UTR	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	294					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTTTATCCACATCATCACGGG	0.507																																																	0													255	212	227					1																	116932186		2203	4300	6503	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.880A>T	1.37:g.116932186A>T	ENSP00000295598:p.Ile294Phe		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.I294F	ENST00000295598.5	37	c.880	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.999620	0.54147	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.88509	-2.39;-2.39;-2.39	5.03	-4.52	0.03472	ATPase, P-type, ATPase-associated domain (1);	0.435771	0.25848	N	0.027914	D	0.86628	0.5978	L	0.48218	1.51	0.43756	D	0.996261	P;P	0.36144	0.483;0.539	P;P	0.50590	0.512;0.645	T	0.81202	-0.1040	10	0.48119	T	0.1	.	21.2287	0.99949	0.8533:0.1467:0.0:0.0	.	294;294	F5H3A1;P05023	.;AT1A1_HUMAN	F	294;294;293;263	ENSP00000295598:I294F;ENSP00000445306:I294F;ENSP00000358508:I263F	ENSP00000295598:I294F	I	+	1	0	ATP1A1	116733709	0.851000	0.29673	0.028000	0.17463	0.910000	0.53928	1.590000	0.36654	-1.049000	0.03234	-0.340000	0.08031	ATC	ATP1A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000163399		0.507	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	-	0	84	0	A	NM_001160233		116932186	1	tier1	-	no_errors	ENST00000295598	ensembl	human	known	74_37	missense	22.47	69	20	SNP	0.185	T	T	116932186	A	T	116932186	3	4	28	1	0	0	0	0	1	0	0	0	1129	217	8	5	926	5	ATP1A1	1	116932186	Missense_Mutation	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	63004933	116932186	132318435	8	6985											
NBPF10	100132406	genome.wustl.edu	37	chr1	145304458	145304458	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcatcagggagatgcagaAggctgaagaaaaggaagtcc	15	5	14	7	0	2	4	2	1	0	3	3	6	3	5	1	3	1	3	1	3	5	0			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:145304458A>G	ENST00000369339.3	+	7	831	c.578A>G	c.(577-579)aAg>aGg	p.K193R	NBPF10_ENST00000342960.5_Missense_Mutation_p.K464R|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.K193R			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	464	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGATGCAGAAGGCTGAAGAA	0.502																																																	0																																										SO:0001583	missense	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.578A>G	1.37:g.145304458A>G	ENSP00000358345:p.Lys193Arg		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	pfam_NBPF_dom	p.K464R	ENST00000369339.3	37	c.1391		1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.315705	0.23908	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.07216	3.21;3.21	0.811	-0.44	0.12261	.	.	.	.	.	T	0.06645	0.0170	L	0.49350	1.555	0.09310	N	1	P;P;P;P	0.51653	0.814;0.873;0.947;0.855	P;P;P;P	0.62298	0.696;0.787;0.9;0.573	T	0.19516	-1.0303	9	0.62326	D	0.03	.	2.8567	0.05574	0.6599:0.0:0.3401:0.0	.	139;429;395;193	Q4VC10;Q3BBV7;Q5U227;A8MQ30	.;.;.;.	R	389;193;193;464	ENSP00000358344:K193R;ENSP00000345684:K464R	ENSP00000345684:K464R	K	+	2	0	NBPF10	144015815	0.053000	0.20554	0.001000	0.08648	0.011000	0.07611	0.468000	0.22051	-0.176000	0.10707	0.234000	0.17832	AAG	NBPF10	-	pfam_NBPF_dom	ENSG00000163386		0.502	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	-	0	305	0	A	NM_001039703		145304458	1	tier1	-	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	20.09	361	91	SNP	0.001	G	G	145304458	A	G	145304458	3	3	28	1	0	0	0	0	1	0	0	0	10231	72	3	4	1429	4	NBPF10	1	145304458	Missense_Mutation	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	28372272	145304458	103946163	9	6986											
ANKRD35	148741	genome.wustl.edu	37	chr1	145563081	145563081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcatctcattggggcttgCcgagacaaggaagccaaggt	11	7	14	9	1	1	1	1	0	1	1	2	4	1	2	2	4	3	2	2	4	3	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:145563081C>T	ENST00000355594.4	+	10	2856	c.2769C>T	c.(2767-2769)tgC>tgT	p.C923C		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	923										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGGGGCTTGCCGAGACAAGG	0.552																																					Melanoma(9;127 754 22988 51047)												0													25	28	27					1																	145563081		2201	4296	6497	SO:0001819	synonymous_variant	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2769C>T	1.37:g.145563081C>T			A6NEU0|B4DL62|Q3MJ10|Q96LS3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.C923	ENST00000355594.4	37	c.2769	CCDS919.1	1																																																																																			ANKRD35	-	NULL	ENSG00000198483		0.552	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1		0	44	0	C	NM_144698		145563081	1			no_errors	ENST00000355594	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	145563081	C	T	145563081	2	4	28	1	0	0	0	0	0	0	0	1	664	747	26	3		3	ANKRD35	1	145563081	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	258623	145563081	103687540	10	6987											
SYT11	23208	genome.wustl.edu	37	chr1	155838231	155838231	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggactataacttcccGaaaaaagccctggtggtgac	12	9	10	10	1	1	1	1	1	0	0	2	3	2	2	2	3	2	0	2	3	5	3	rs148825060	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:155838231G>T	ENST00000368324.4	+	2	763	c.510G>T	c.(508-510)ccG>ccT	p.P170P	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	170					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATAACTTCCCGAAAAAAGCCC	0.542																																																	0													58	59	59					1																	155838231		2203	4300	6503	SO:0001819	synonymous_variant	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.510G>T	1.37:g.155838231G>T			Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.P170	ENST00000368324.4	37	c.510	CCDS1122.1	1																																																																																			SYT11	-	superfamily_C2_dom,prints_Synaptotagmin	ENSG00000132718		0.542	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1		0	22	0	G	NM_152280		155838231	1			no_errors	ENST00000368324	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.129	T	T	155838231	G	T	155838231	2	4	28	1	0	0	0	0	0	0	0	1	15514	1045	37	2		2	SYT11	1	155838231	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	10275150	155838231	93412390	11	6988											
CD5L	922	genome.wustl.edu	37	chr1	157805945	157805945	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcactccagatggagacGctgcaaagagacgggttgtt	10	7	14	10	3	0	3	0	0	0	3	1	5	1	3	2	2	1	5	2	2	1	2	rs377627339		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:157805945G>A	ENST00000368174.4	-	3	152	c.56C>T	c.(55-57)gCg>gTg	p.A19V	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	19					apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.A19V(2)|p.A19E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGGAGACGCTGCAAAGAG	0.592																																																	3	Substitution - Missense(3)	breast(2)|lung(1)						G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	32	35	34		56	-2.7	0	1		34	0,8600		0,0,4300	no	missense-near-splice	CD5L	NM_005894.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	19/348	157805945	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.56-1C>T	1.37:g.157805945G>A			A8K7M5|Q6UX63	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.A19V	ENST00000368174.4	37	c.56	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.297044	0.23650	2.27E-4	0.0	ENSG00000073754	ENST00000368174	T	0.01446	4.88	4.85	-2.73	0.05950	Speract/scavenger receptor-related (1);	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.09310	N	1	B	0.25048	0.117	B	0.18871	0.023	T	0.39722	-0.9600	9	0.33141	T	0.24	.	5.7632	0.18211	0.0:0.392:0.1524:0.4556	.	19	O43866	CD5L_HUMAN	V	19	ENSP00000357156:A19V	ENSP00000357156:A19V	A	-	2	0	CD5L	156072569	0.000000	0.05858	0.014000	0.15608	0.049000	0.14656	-1.272000	0.02826	-0.712000	0.04988	-0.388000	0.06559	GCG	CD5L	-	superfamily_Srcr_rcpt-rel	ENSG00000073754		0.592	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	-	0	9	0	G	NM_005894	Missense_Mutation	157805945	-1	tier1	-	no_errors	ENST00000368174	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.012	A	A	157805945	G	A	157805945	5	1	28	1	0	0	0	0	0	0	1	0	3034	1101	38	1	1003	1	CD5L	1	157805945	Splice_Site	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	1967714	157805945	91444676	12	6989											
INTS7	25896	genome.wustl.edu	37	chr1	212148519	212148519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacttactgttaaggaagCaatccctttgtgatagaatt	13	13	9	6	0	0	2	0	1	0	1	1	4	1	4	1	2	2	2	1	2	6	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:212148519C>T	ENST00000366994.3	-	13	1908	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	INTS7_ENST00000366992.3_Missense_Mutation_p.A602T|INTS7_ENST00000440600.2_Missense_Mutation_p.A553T|INTS7_ENST00000366993.3_Missense_Mutation_p.A602T|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	602					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GTTAAGGAAGCAATCCCTTTG	0.373																																																	0													67	64	65					1																	212148519		2203	4300	6503	SO:0001583	missense	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1804G>A	1.37:g.212148519C>T	ENSP00000355961:p.Ala602Thr		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A553T	ENST00000366994.3	37	c.1657	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554493	0.86231	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.49720	0.82;0.77;0.78;0.79	6.06	5.13	0.70059	.	0.091353	0.85682	D	0.000000	T	0.49626	0.1568	L	0.47190	1.495	0.80722	D	1	B;B;B;B	0.32245	0.361;0.361;0.361;0.361	B;B;B;B	0.39904	0.313;0.313;0.214;0.214	T	0.49143	-0.8970	10	0.46703	T	0.11	-16.9748	16.6356	0.85058	0.1311:0.8689:0.0:0.0	.	553;602;602;602	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	T	602;602;602;553	ENSP00000355961:A602T;ENSP00000355960:A602T;ENSP00000355959:A602T;ENSP00000388908:A553T	ENSP00000355959:A602T	A	-	1	0	INTS7	210215142	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.538000	0.82048	1.539000	0.49286	0.655000	0.94253	GCT	INTS7	-	NULL	ENSG00000143493		0.373	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1		0	20	0	C	NM_015434		212148519	-1			no_errors	ENST00000440600	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	212148519	C	T	212148519	3	4	28	1	0	0	0	0	1	0	0	0	7810	710	25	3	1116	3	INTS7	1	212148519	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	54342574	212148519	37102102	13	6990											
ZNF678	339500	genome.wustl.edu	37	chr1	227842427	227842427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacaaatgtgacgaatgtgGcaaagtttttaattggtggt	12	14	11	4	1	0	1	0	1	0	0	0	2	0	1	0	3	1	2	0	3	5	5	rs557917085		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr1:227842427G>A	ENST00000343776.5	+	4	821	c.476G>A	c.(475-477)gGc>gAc	p.G159D	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.G214D	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G214V(1)|p.G159V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GACGAATGTGGCAAAGTTTTT	0.333													G|||	1	0.000199681	0	0	5008	,	,		20760	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	lung(2)											67	78	74					1																	227842427		2201	4299	6500	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.476G>A	1.37:g.227842427G>A	ENSP00000344828:p.Gly159Asp		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G214D	ENST00000343776.5	37	c.641		1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298443	0.40694	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	T;T;T	0.58358	4.9;4.9;0.34	1.34	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48943	0.1528	N	0.21448	0.665	0.33498	D	0.589606	D	0.59357	0.985	P	0.56823	0.807	T	0.59402	-0.7461	9	0.56958	D	0.05	.	8.5465	0.33424	0.0:0.0:1.0:0.0	.	159	Q5SXM1	ZN678_HUMAN	D	159;214;214	ENSP00000344828:G159D;ENSP00000440403:G214D;ENSP00000394651:G214D	ENSP00000344828:G159D	G	+	2	0	ZNF678	225909050	0.936000	0.31750	0.019000	0.16419	0.018000	0.09664	1.067000	0.30616	0.596000	0.29794	0.603000	0.83216	GGC	ZNF678	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181450		0.333	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2		0	13	0	G	NM_178549		227842427	1			no_errors	ENST00000397097	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.999	A	A	227842427	G	A	227842427	3	1	28	1	0	0	0	0	1	0	0	0	18133	1203	42	3	655	3	ZNF678	1	227842427	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	15693908	227842427	21408194	14	6991											
STAMBP	10617	genome.wustl.edu	37	chr2	74072312	74072312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaattaaaggagattgcaTttcccaaagcagaagagctg	17	8	10	6	0	0	4	0	0	0	4	1	5	1	4	1	1	3	3	1	1	5	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:74072312T>C	ENST00000394070.2	+	4	801	c.298T>C	c.(298-300)Ttt>Ctt	p.F100L	STAMBP_ENST00000409707.1_Missense_Mutation_p.F100L|STAMBP_ENST00000536064.1_Missense_Mutation_p.F100L|STAMBP_ENST00000339566.3_Missense_Mutation_p.F100L|STAMBP_ENST00000394073.1_Missense_Mutation_p.F100L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	100	Interaction with CHMP3.		F -> Y (in MICCAP). {ECO:0000269|PubMed:23542699}.		JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GGAGATTGCATTTCCCAAAGC	0.333																																																	0													56	58	57					2																	74072312		2203	4300	6503	SO:0001583	missense	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.298T>C	2.37:g.74072312T>C	ENSP00000377633:p.Phe100Leu		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.F100L	ENST00000394070.2	37	c.298	CCDS1929.1	2	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470630	0.84533	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.40476	2.06;2.06;2.01;2.06;2.06;1.03	5.52	5.52	0.82312	.	0.046991	0.85682	D	0.000000	T	0.53706	0.1813	L	0.43646	1.37	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.44452	-0.9327	10	0.23891	T	0.37	-5.9945	14.764	0.69626	0.0:0.0:0.0:1.0	.	100	O95630	STABP_HUMAN	L	100	ENSP00000344742:F100L;ENSP00000386548:F100L;ENSP00000413874:F100L;ENSP00000377636:F100L;ENSP00000377633:F100L;ENSP00000443502:F100L	ENSP00000344742:F100L	F	+	1	0	STAMBP	73925820	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.203000	0.77864	2.320000	0.78422	0.528000	0.53228	TTT	STAMBP	-	NULL	ENSG00000124356		0.333	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2	-	0	55	0	T	NM_006463		74072312	1	tier1	-	no_errors	ENST00000339566	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	C	C	74072312	T	C	74072312	3	2	28	1	0	0	0	0	1	0	0	0	15297	1493	52	4	308	4	STAMBP	2	74072312	Missense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09		74072312	169127061	15	6992											
C2orf68	388969	genome.wustl.edu	37	chr2	85838860	85838860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgggcgtgtgccgccTcctcaccttctccttggccg	1	9	13	18	6	2	0	1	0	1	0	4	0	3	0	6	3	1	0	6	3	0	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:85838860T>A	ENST00000306336.5	-	2	201	c.157A>T	c.(157-159)Agg>Tgg	p.R53W	USP39_ENST00000450066.2_5'Flank|C2orf68_ENST00000478626.1_5'UTR|C2orf68_ENST00000409734.3_Missense_Mutation_p.R53W|USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	53										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGTGCCGCCTCCTCACCTTC	0.731																																																	0													12	16	15					2																	85838860		1956	4110	6066	SO:0001583	missense	0				CCDS42704.1	2p11.2	2008-07-18			ENSG00000168887	ENSG00000168887			34353	protein-coding gene	gene with protein product							Standard	NM_001013649		Approved		uc002sqc.2	Q2NKX9	OTTHUMG00000153088	ENST00000306336.5:c.157A>T	2.37:g.85838860T>A	ENSP00000304410:p.Arg53Trp		B4DT10|Q4G0J7|Q6ZVA6	Missense_Mutation	SNP	pfam_UPF0561	p.R53W	ENST00000306336.5	37	c.157	CCDS42704.1	2	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874794	0.91664	.	.	ENSG00000168887	ENST00000306336;ENST00000409734	.	.	.	5.44	5.44	0.79542	.	0.099510	0.64402	D	0.000002	T	0.74550	0.3731	L	0.55481	1.735	0.45272	D	0.998276	D;D	0.89917	1.0;0.995	D;D	0.83275	0.996;0.954	T	0.76955	-0.2767	9	0.87932	D	0	-23.311	13.4932	0.61408	0.0:0.0:0.0:1.0	.	53;53	Q2NKX9-3;Q2NKX9	.;CB068_HUMAN	W	53	.	ENSP00000304410:R53W	R	-	1	2	C2orf68	85692371	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	4.410000	0.59774	2.285000	0.76669	0.477000	0.44152	AGG	C2orf68	-	pfam_UPF0561	ENSG00000168887		0.731	C2orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf68	HGNC	protein_coding	OTTHUMT00000329451.1	-	0	36	0	T	NM_001013649		85838860	-1	tier1	-	no_errors	ENST00000306336	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	A	A	85838860	T	A	85838860	3	1	28	1	0	0	0	0	1	0	0	0	2194	1550	54	5	355	5	C2orf68	2	85838860	Missense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09	11766548	85838860	157360513	16	6993											
BUB1	699	genome.wustl.edu	37	chr2	111398882	111398882	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaaaagcataacacttGcccgtttccaagtatgaaat	14	12	6	9	1	0	1	0	1	0	0	1	1	1	1	2	0	3	4	2	0	6	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:111398882G>T	ENST00000302759.6	-	22	2902		c.e22+1		BUB1_ENST00000535254.1_Splice_Site|BUB1_ENST00000478175.1_5'Flank|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CATAACACTTGCCCGTTTCCA	0.383																																																	0													121	119	119					2																	111398882		2203	4300	6503	SO:0001630	splice_region_variant	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2783+1C>A	2.37:g.111398882G>T			E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Splice_Site	SNP	-	e22+2	ENST00000302759.6	37	c.2783+2	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642535	0.29246	.	.	ENSG00000169679	ENST00000535254;ENST00000302759	.	.	.	5.87	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3802	0.32466	0.2415:0.0:0.7585:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BUB1	111115354	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	1.892000	0.39748	0.923000	0.37045	0.655000	0.94253	.	BUB1	-	-	ENSG00000169679		0.383	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	-	0	23	0	G	NM_004336	Intron	111398882	-1	tier1	-	no_errors	ENST00000302759	ensembl	human	known	74_37	splice_site	34.29	23	12	SNP	1.000	T	T	111398882	G	T	111398882	5	4	28	1	0	0	0	0	0	0	1	0	1574	1333	46	3	488	3	BUB1	2	111398882	Splice_Site	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	25560022	111398882	131800491	17	6994											
MAP3K2	10746	genome.wustl.edu	37	chr2	128075818	128075818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttcctgtatcaacatcaTaacagaggtagacccttcca	12	11	5	13	0	3	2	2	0	1	2	5	2	5	2	3	1	2	2	3	1	4	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:128075818T>A	ENST00000409947.1	-	13	1403	c.1121A>T	c.(1120-1122)tAt>tTt	p.Y374F	MAP3K2_ENST00000344908.5_Missense_Mutation_p.Y374F|RNU6-1147P_ENST00000363380.1_RNA			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	ATCAACATCATAACAGAGGTA	0.443																																																	0													93	91	92					2																	128075818		1863	4093	5956	SO:0001583	missense	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1121A>T	2.37:g.128075818T>A	ENSP00000387246:p.Tyr374Phe		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y374F	ENST00000409947.1	37	c.1121	CCDS46404.1	2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.113504	0.77210	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.24151	1.87;1.87	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.113313	0.64402	D	0.000007	T	0.18383	0.0441	N	0.19112	0.55	0.58432	D	0.999998	B	0.13594	0.008	B	0.22601	0.04	T	0.07829	-1.0752	10	0.15499	T	0.54	.	15.7399	0.77887	0.0:0.0:0.0:1.0	.	374	Q9Y2U5	M3K2_HUMAN	F	374	ENSP00000387246:Y374F;ENSP00000343463:Y374F	ENSP00000343463:Y374F	Y	-	2	0	MAP3K2	127792288	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.953000	0.87836	2.112000	0.64535	0.477000	0.44152	TAT	MAP3K2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000169967		0.443	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1	-	0	57	0	T	NM_006609		128075818	-1	tier1	-	no_errors	ENST00000344908	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	A	A	128075818	T	A	128075818	3	1	28	1	0	0	0	0	1	0	0	0	9288	1406	49	5	758	5	MAP3K2	2	128075818	Missense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09	16676936	128075818	115123555	18	6995											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098957	178098957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttctcgacttactccaaGatctatatcttgcctccaaa	11	14	3	13	1	3	1	0	0	3	1	6	2	5	1	3	0	3	0	3	0	6	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:178098957G>A	ENST00000397062.3	-	2	642	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14F|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14F|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14F|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30F(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTTACTCCAAGATCTATATCT	0.368			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(5)	lung(3)|oesophagus(1)|skin(1)											68	61	63					2																	178098957		1842	4101	5943	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.88C>T	2.37:g.178098957G>A	ENSP00000380252:p.Leu30Phe		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.L30F	ENST00000397062.3	37	c.88	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298628	0.81025	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.997	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:0.0:1.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	F	14;30;14;14;14;14;14	ENSP00000380253:L14F;ENSP00000380252:L30F;ENSP00000411575:L14F;ENSP00000391590:L14F;ENSP00000400073:L14F;ENSP00000412191:L14F;ENSP00000410015:L14F	ENSP00000380252:L30F	L	-	1	0	NFE2L2	177807203	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.737000	0.93849	0.563000	0.77884	CTT	NFE2L2	-	NULL	ENSG00000116044		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0	56	0	G	NM_006164		178098957	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	A	A	178098957	G	A	178098957	3	1	28	1	0	0	0	0	1	0	0	0	10407	942	33	3	1745	3	NFE2L2	2	178098957	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	50023139	178098957	65100416	19	6996											
TTN	7273	genome.wustl.edu	37	chr2	179647001	179647001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggggctttgggttgccGccaacttggcatccaaacac	9	9	11	12	1	0	0	0	0	0	0	1	0	1	0	3	4	3	3	3	4	2	3	rs141768043		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:179647001G>A	ENST00000591111.1	-	20	3542	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_ENST00000342175.6_Silent_p.G1060G|TTN_ENST00000460472.2_Silent_p.G1060G|TTN_ENST00000359218.5_Silent_p.G1060G|TTN_ENST00000589042.1_Silent_p.G1106G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.G1106G|TTN_ENST00000360870.5_Silent_p.G1106G			Q8WZ42	TITIN_HUMAN	titin	33325	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488																																																	0								G	,,,,	3,4403	6.2+/-15.9	0,3,2200	83	81	81		3180,3318,3318,3180,3180	-11.2	0.1	2	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	1060/26927,1106/33424,1106/5605,1060/27052,1060/27119	179647001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3318C>T	2.37:g.179647001G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G1106	ENST00000591111.1	37	c.3318		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	30	0	G	NM_133378		179647001	-1	tier1	rs141768043	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.021	A	A	179647001	G	A	179647001	2	1	28	1	0	0	0	0	0	0	0	1	16784	1074	38	1		1	TTN	2	179647001	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	1548044	179647001	63552372	20	6997											
MYO1B	4430	genome.wustl.edu	37	chr2	192280957	192280957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaagctcaatattgaGatttccgatgagtacgttca	15	11	8	7	2	2	3	2	2	0	2	3	5	3	3	1	0	3	3	1	0	5	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr2:192280957G>T	ENST00000392318.3	+	30	3523	c.3276G>T	c.(3274-3276)gaG>gaT	p.E1092D	MYO1B_ENST00000392316.1_Missense_Mutation_p.E1063D|MYO1B_ENST00000339514.4_Missense_Mutation_p.E1034D|MYO1B_ENST00000304164.4_Missense_Mutation_p.E1092D|MYO1B_ENST00000439065.2_Missense_Mutation_p.E337D	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1092	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCAATATTGAGATTTCCGATG	0.388																																																	0													170	160	163					2																	192280957		2203	4300	6503	SO:0001583	missense	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3276G>T	2.37:g.192280957G>T	ENSP00000376132:p.Glu1092Asp		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1092D	ENST00000392318.3	37	c.3276	CCDS46477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.983|8.983	0.975739|0.975739	0.18736|0.18736	.|.	.|.	ENSG00000128641|ENSG00000128641	ENST00000427152|ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	.|T;T;T;T;T	.|0.36520	.|1.25;1.25;1.25;1.25;1.25	5.46|5.46	-0.744|-0.744	0.11101|0.11101	.|Myosin tail 2 (1);	.|0.051836	.|0.85682	.|D	.|0.000000	T|T	0.12732|0.12732	0.0309|0.0309	N|N	0.01705|0.01705	-0.755|-0.755	0.37089|0.37089	D|D	0.899364|0.899364	.|B;B;B	.|0.11235	.|0.002;0.001;0.004	.|B;B;B	.|0.12156	.|0.007;0.006;0.004	T|T	0.13308|0.13308	-1.0514|-1.0514	5|10	.|0.23891	.|T	.|0.37	.|.	11.182|11.182	0.48633|0.48633	0.4112:0.0:0.5888:0.0|0.4112:0.0:0.5888:0.0	.|.	.|337;1092;1034	.|E7EPB4;O43795;O43795-2	.|.;MYO1B_HUMAN;.	Y|D	171|1034;1092;1092;1063;337	.|ENSP00000341903:E1034D;ENSP00000376132:E1092D;ENSP00000306382:E1092D;ENSP00000376130:E1063D;ENSP00000391442:E337D	.|ENSP00000306382:E1092D	D|E	+|+	1|3	0|2	MYO1B|MYO1B	191989202|191989202	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.789000|0.789000	0.44602|0.44602	0.861000|0.861000	0.27885|0.27885	-0.031000|-0.031000	0.13781|0.13781	-0.218000|-0.218000	0.12543|0.12543	GAT|GAG	MYO1B	-	pfam_Myosin_tail_2	ENSG00000128641		0.388	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1	-	0	51	0	G	NM_012223		192280957	1	tier1	-	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.998	T	T	192280957	G	T	192280957	3	4	28	1	0	0	0	0	1	0	0	0	10107	933	33	3	3390	3	MYO1B	2	192280957	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	12633956	192280957	50918416	21	6998											
CNTN6	27255	genome.wustl.edu	37	chr3	1363504	1363504	+	Frame_Shift_Del	DEL	A	A	-																															aagaaaccttgcaaagggtcAactcattttttatggtgagc																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:1363504delA	ENST00000446702.2	+	8	1559	c.932delA	c.(931-933)caafs	p.Q311fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.Q311fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.Q239fs			Q9UQ52	CNTN6_HUMAN	contactin 6	311					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCAAAGGGTCAACTCATTTTT	0.358																																																	0													78	85	82					3																	1363504		2203	4298	6501	SO:0001589	frameshift_variant	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.932delA	3.37:g.1363504delA	ENSP00000407822:p.Gln311fs		Q2KHM2	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q311fs	ENST00000446702.2	37	c.932	CCDS2557.1	3																																																																																			CNTN6	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000134115		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2		0	23	0	A	NM_014461		1363504	1	tier1		no_errors	ENST00000350110	ensembl	human	known	74_37	frame_shift_del	61.90	8	13	DEL	1.000	-	-	1363504	A	-	1363504	7	5	28	1	0	1	0	1	0	0	0	0	3652	130	5	0	958	0	CNTN6	3	1363504	Frame_Shift_Del	DEL	A	TCGA-IG-A625-01A-11D-A31U-09		1363504	196658926	22	6999											
MAP4	4134	genome.wustl.edu	37	chr3	47963311	47963311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattgaagtatcagctgtcGcactggagggaaagaccaaa	15	8	11	7	1	1	2	1	1	0	1	2	4	1	4	1	2	1	3	1	2	5	3	rs531177526		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:47963311G>A	ENST00000360240.6	-	5	991	c.473C>T	c.(472-474)gCg>gTg	p.A158V	MAP4_ENST00000426837.2_Missense_Mutation_p.A175V|MAP4_ENST00000383737.4_Missense_Mutation_p.A158V|MAP4_ENST00000395734.3_Missense_Mutation_p.A158V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	158					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	ATCAGCTGTCGCACTGGAGGG	0.398													G|||	1	0.000199681	0	0	5008	,	,		17425	0		0	False		,,,				2504	0.001																0													132	121	125					3																	47963311		2203	4300	6503	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.473C>T	3.37:g.47963311G>A	ENSP00000353375:p.Ala158Val		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.A158V	ENST00000360240.6	37	c.473	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	G	8.295	0.818555	0.16607	.	.	ENSG00000047849	ENST00000383737;ENST00000395734;ENST00000426837;ENST00000360240	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.48	1.68	0.24146	.	.	.	.	.	T	0.13756	0.0333	N	0.08118	0	0.09310	N	0.999999	P;P;P	0.45827	0.867;0.832;0.785	B;B;B	0.39027	0.197;0.288;0.212	T	0.10660	-1.0620	9	0.87932	D	0	-2.0497	4.6371	0.12530	0.0:0.6106:0.1862:0.2032	.	135;158;158	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	V	158;158;175;158	ENSP00000373243:A158V;ENSP00000379083:A158V;ENSP00000407602:A175V;ENSP00000353375:A158V	ENSP00000353375:A158V	A	-	2	0	MAP4	47938315	0.053000	0.20554	0.046000	0.18839	0.000000	0.00434	0.107000	0.15375	0.239000	0.21243	-0.839000	0.03059	GCG	MAP4	-	NULL	ENSG00000047849		0.398	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1		0	37	0	G	NM_002375		47963311	-1			no_errors	ENST00000360240	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.012	A	A	47963311	G	A	47963311	3	1	28	1	0	0	0	0	1	0	0	0	9296	1087	38	1	4404	1	MAP4	3	47963311	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	46599807	47963311	150059119	23	7000											
HYAL2	8692	genome.wustl.edu	37	chr3	50357378	50357378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatgaactgctgtgctgcGaactcaaactcatattgtgc	11	11	9	10	1	2	1	2	1	0	0	2	2	2	1	0	0	8	3	0	0	4	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:50357378G>A	ENST00000447092.1	-	1	2835	c.543C>T	c.(541-543)ttC>ttT	p.F181F	HYAL2_ENST00000395139.3_Silent_p.F181F|TUSC2_ENST00000462137.1_5'Flank|HYAL2_ENST00000442581.1_Silent_p.F181F|HYAL2_ENST00000357750.4_Silent_p.F181F			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	181					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGTGCTGCGAACTCAAACT	0.547																																																	0													107	104	105					3																	50357378		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"lysosomal hyaluronidase", "PH-20 homolog", "hyaluronidase 2"	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.543C>T	3.37:g.50357378G>A			B3KRZ2|O15177|Q9BW29	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.F181	ENST00000447092.1	37	c.543	CCDS2818.1	3																																																																																			HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000068001		0.547	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1		0	27	0	G	NM_003773		50357378	-1			no_errors	ENST00000357750	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.000	A	A	50357378	G	A	50357378	2	1	28	1	0	0	0	0	0	0	0	1	7491	1049	37	1		1	HYAL2	3	50357378	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	2394067	50357378	147665052	24	7001											
OR5H6	79295	genome.wustl.edu	37	chr3	97983602	97983602	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaatgaactatgcatTcagctattagtcttgtcatt	12	15	6	8	0	3	2	2	2	1	0	3	2	3	2	1	0	3	2	1	0	5	6	rs75354046	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:97983602T>C	ENST00000383696.2	+	1	515	c.474T>C	c.(472-474)atT>atC	p.I158I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AACTATGCATTCAGCTATTAG	0.358																																																	0													109	102	104					3																	97983602		2203	4299	6502	SO:0001819	synonymous_variant	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.474T>C	3.37:g.97983602T>C			Q6IF88	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158	ENST00000383696.2	37	c.474	CCDS33800.1	3																																																																																			OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000230301		0.358	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0	77	0	T			97983602	1	tier1	rs75354046	no_errors	ENST00000383696	ensembl	human	known	74_37	silent	6.94	134	10	SNP	0.000	C	C	97983602	T	C	97983602	2	2	28	1	0	0	0	0	0	0	0	1	11202	1771	62	4		4	OR5H6	3	97983602	Silent	SNP	T	TCGA-IG-A625-01A-11D-A31U-09	47626224	97983602	100038828	25	7002											
NIT2	56954	genome.wustl.edu	37	chr3	100058768	100058768	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaaggaatgcagcatatAtctcattggaggtaacttcc	14	10	9	8	0	1	0	1	0	1	0	3	2	2	2	1	3	4	4	1	3	5	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:100058768A>T	ENST00000394140.4	+	3	327	c.236A>T	c.(235-237)tAt>tTt	p.Y79F		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	79	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TGCAGCATATATCTCATTGGA	0.413																																																	0													77	75	76					3																	100058768		2203	4300	6503	SO:0001583	missense	0			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.236A>T	3.37:g.100058768A>T	ENSP00000377696:p.Tyr79Phe		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.Y79F	ENST00000394140.4	37	c.236	CCDS33806.1	3	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007192	0.54361	.	.	ENSG00000114021	ENST00000394140	D	0.87650	-2.28	5.24	4.06	0.47325	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.057922	0.64402	D	0.000001	D	0.83069	0.5174	L	0.33339	1.005	0.52099	D	0.999947	B;B	0.28208	0.063;0.203	B;B	0.38562	0.17;0.276	T	0.79167	-0.1915	10	0.48119	T	0.1	-22.1402	10.276	0.43510	0.7367:0.0:0.0:0.2633	.	79;79	B7Z3F9;Q9NQR4	.;NIT2_HUMAN	F	79	ENSP00000377696:Y79F	ENSP00000377696:Y79F	Y	+	2	0	NIT2	101541458	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.709000	0.54853	0.912000	0.36772	0.533000	0.62120	TAT	NIT2	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	ENSG00000114021		0.413	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT2	HGNC	protein_coding	OTTHUMT00000353142.2	-	0	66	0	A	NM_020202		100058768	1	tier1	-	no_errors	ENST00000394140	ensembl	human	known	74_37	missense	46.55	62	54	SNP	1.000	T	T	100058768	A	T	100058768	3	4	28	1	0	0	0	0	1	0	0	0	10473	449	16	5	246	5	NIT2	3	100058768	Missense_Mutation	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	2075166	100058768	97963662	26	7003											
CD200R1	131450	genome.wustl.edu	37	chr3	112643345	112643345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttatcttacctcctcaaCaactggagtagattctgttt	10	16	5	10	0	4	1	1	0	3	1	5	2	5	2	2	1	3	2	2	1	5	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:112643345C>T	ENST00000471858.1	-	6	1079	c.847G>A	c.(847-849)Gtt>Att	p.V283I	CD200R1_ENST00000295863.4_Intron|CD200R1_ENST00000308611.3_Missense_Mutation_p.V306I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	283					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						ACCTCCTCAACAACTGGAGTA	0.269																																																	0													100	89	92					3																	112643345		2193	4287	6480	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.847G>A	3.37:g.112643345C>T	ENSP00000418928:p.Val283Ile		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.V306I	ENST00000471858.1	37	c.916	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	C	8.212	0.800609	0.16397	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.14144	2.57;2.53	4.61	-1.14	0.09741	.	2.952780	0.01831	U	0.034700	T	0.07638	0.0192	N	0.12746	0.255	0.09310	N	1	B;B	0.20550	0.027;0.046	B;B	0.15484	0.006;0.013	T	0.25187	-1.0139	10	0.25751	T	0.34	.	4.3225	0.11023	0.4987:0.3073:0.0:0.1939	.	283;306	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	I	283;306	ENSP00000418928:V283I;ENSP00000311035:V306I	ENSP00000311035:V306I	V	-	1	0	CD200R1	114126035	0.000000	0.05858	0.005000	0.12908	0.077000	0.17291	-0.512000	0.06313	-0.517000	0.06461	0.563000	0.77884	GTT	CD200R1	-	NULL	ENSG00000163606		0.269	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	-	0	51	0	C	NM_138806		112643345	-1	tier1	-	no_errors	ENST00000308611	ensembl	human	known	74_37	missense	23.23	76	23	SNP	0.005	T	T	112643345	C	T	112643345	3	4	28	1	0	0	0	0	1	0	0	0	2988	478	17	3	138	3	CD200R1	3	112643345	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	12584577	112643345	85379085	27	7004											
GOLGB1	2804	genome.wustl.edu	37	chr3	121400679	121400679	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctcttgattaatctgtaAgtattgctgctgcagattct	9	17	8	7	0	3	2	0	1	3	1	4	3	3	2	0	0	3	5	0	0	3	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:121400679A>G	ENST00000340645.5	-	15	8838	c.8713T>C	c.(8713-8715)Tta>Cta	p.L2905L	GOLGB1_ENST00000393667.3_Silent_p.L2910L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2905					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTAATCTGTAAGTATTGCTGC	0.358																																																	0													142	130	134					3																	121400679		2203	4300	6503	SO:0001819	synonymous_variant	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8713T>C	3.37:g.121400679A>G			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L2905	ENST00000340645.5	37	c.8713	CCDS3004.1	3																																																																																			GOLGB1	-	NULL	ENSG00000173230		0.358	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	50	0	A	NM_004487		121400679	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	silent	40.00	33	22	SNP	1.000	G	G	121400679	A	G	121400679	2	3	28	1	0	0	0	0	0	0	0	1	6591	69	3	4		4	GOLGB1	3	121400679	Silent	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	8757334	121400679	76621751	28	7005											
ABTB1	80325	genome.wustl.edu	37	chr3	127396675	127396675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctctactacatgtacagcGaccacactgaggtgggggct	9	9	12	11	1	1	1	0	1	1	0	1	2	1	1	1	3	5	3	1	3	3	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:127396675G>A	ENST00000232744.8	+	10	1104	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	ABTB1_ENST00000453791.2_Missense_Mutation_p.D198N|ABTB1_ENST00000393363.3_Missense_Mutation_p.D198N|ABTB1_ENST00000468137.1_Missense_Mutation_p.D198N					ankyrin repeat and BTB (POZ) domain containing 1									p.D340N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CATGTACAGCGACCACACTGA	0.657																																																	1	Substitution - Missense(1)	large_intestine(1)											32	31	31					3																	127396675		2203	4300	6503	SO:0001583	missense	0			AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1018G>A	3.37:g.127396675G>A	ENSP00000232744:p.Asp340Asn			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.D340N	ENST00000232744.8	37	c.1018	CCDS3045.1	3	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065382	0.55432	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.17	4.3	0.51218	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046186	0.85682	N	0.000000	T	0.29524	0.0736	M	0.75884	2.315	0.80722	D	1	P;B;P	0.47409	0.895;0.184;0.487	B;B;B	0.38712	0.28;0.076;0.062	T	0.20306	-1.0279	10	0.51188	T	0.08	-5.576	13.665	0.62389	0.0748:0.0:0.9252:0.0	.	176;340;315	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	N	176;198;340;198;198	ENSP00000377030:D198N;ENSP00000232744:D340N;ENSP00000412684:D198N;ENSP00000417366:D198N	ENSP00000232744:D340N	D	+	1	0	ABTB1	128879365	1.000000	0.71417	0.980000	0.43619	0.954000	0.61252	7.882000	0.87258	1.164000	0.42652	0.591000	0.81541	GAC	ABTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000114626		0.657	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB1	HGNC	protein_coding	OTTHUMT00000356595.1		0	10	0	G	NM_172027		127396675	1			no_errors	ENST00000232744	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A	A	127396675	G	A	127396675	3	1	28	1	0	0	0	0	1	0	0	0	102	1058	37	1	1056	1	ABTB1	3	127396675	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	5995996	127396675	70625755	29	7006											
SPATA16	83893	genome.wustl.edu	37	chr3	172835311	172835311	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatcattgctttgtttttCtttgatgccctttgtcattt	6	23	5	7	0	3	1	2	1	1	0	3	1	3	1	1	0	2	2	1	0	2	8			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr3:172835311C>A	ENST00000351008.3	-	2	394	c.211G>T	c.(211-213)Gaa>Taa	p.E71*		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	71					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTTGTTTTTCTTTGATGCCC	0.368																																																	0													350	331	337					3																	172835311		2203	4300	6503	SO:0001587	stop_gained	0			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.211G>T	3.37:g.172835311C>A	ENSP00000341765:p.Glu71*		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Nonsense_Mutation	SNP	NULL	p.E71*	ENST00000351008.3	37	c.211	CCDS3221.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.600516	0.97697	.	.	ENSG00000144962	ENST00000351008	.	.	.	5.27	4.4	0.53042	.	0.000000	0.56097	D	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.3152	12.1262	0.53919	0.0:0.9197:0.0:0.0803	.	.	.	.	X	71	.	ENSP00000341765:E71X	E	-	1	0	SPATA16	174318005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.234000	0.32660	1.215000	0.43411	0.650000	0.86243	GAA	SPATA16	-	NULL	ENSG00000144962		0.368	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	-	0	65	0	C	NM_031955		172835311	-1	tier1	-	no_errors	ENST00000351008	ensembl	human	known	74_37	nonsense	24.18	69	22	SNP	1.000	A	A	172835311	C	A	172835311	4	1	28	1	0	0	0	0	0	1	0	0	15048	922	32	3	1538	3	SPATA16	3	172835311	Nonsense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	45438636	172835311	25187119	30	7007											
ZNF732	654254	genome.wustl.edu	37	chr4	265855	265855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctcttatgcttagtaaggGttgaggacctattaaaggct	10	15	10	6	0	1	1	0	1	1	0	2	2	1	2	1	3	1	4	1	3	6	7			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:265855G>T	ENST00000419098.1	-	4	801	c.791C>A	c.(790-792)aCc>aAc	p.T264N		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						CTTAGTAAGGGTTGAGGACCT	0.363																																																	0													58	50	53					4																	265855		692	1591	2283	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.791C>A	4.37:g.265855G>T	ENSP00000415774:p.Thr264Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T264N	ENST00000419098.1	37	c.791	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.079255	0.00375	.	.	ENSG00000186777	ENST00000419098	T	0.14391	2.51	0.937	0.937	0.19494	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.00879	-1.12	0.09310	N	1	B	0.27068	0.167	B	0.27608	0.081	T	0.44544	-0.9321	9	0.17369	T	0.5	.	4.8373	0.13471	0.0:0.3974:0.6026:0.0	.	264	B4DXR9	ZN732_HUMAN	N	264	ENSP00000415774:T264N	ENSP00000415774:T264N	T	-	2	0	ZNF732	255855	0.000000	0.05858	0.037000	0.18230	0.034000	0.12701	-2.572000	0.00912	0.392000	0.25172	0.393000	0.25936	ACC	ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.363	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	-	0	30	0	G	NM_001137608		265855	-1	tier1	-	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.001	T	T	265855	G	T	265855	3	4	28	1	0	0	0	0	1	0	0	0	18171	1261	44	3	970	3	ZNF732	4	265855	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		265855	190888421	31	7008											
HS3ST1	9957	genome.wustl.edu	37	chr4	11400816	11400816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgacttgggggtgcgcccGgcctttggactcatgtaagc	6	10	14	11	3	1	0	1	0	0	0	2	2	1	1	2	4	2	1	2	4	1	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:11400816G>A	ENST00000002596.5	-	2	1988	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	272					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGGTGCGCCCGGCCTTTGGAC	0.493																																																	0													55	59	58					4																	11400816		2203	4300	6503	SO:0001583	missense	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.814C>T	4.37:g.11400816G>A	ENSP00000002596:p.Arg272Trp		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R272W	ENST00000002596.5	37	c.814	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132652	0.56828	.	.	ENSG00000002587	ENST00000002596	T	0.58652	0.32	5.59	4.67	0.58626	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.82848	0.5126	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87916	0.2700	10	0.87932	D	0	.	14.6106	0.68514	0.0:0.0:0.7713:0.2287	.	272	O14792	HS3S1_HUMAN	W	272	ENSP00000002596:R272W	ENSP00000002596:R272W	R	-	1	2	HS3ST1	11009914	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	2.134000	0.42102	2.628000	0.89032	0.655000	0.94253	CGG	HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.493	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	-	0	47	0	G	NM_005114		11400816	-1	tier1	-	no_errors	ENST00000002596	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A	A	11400816	G	A	11400816	3	1	28	1	0	0	0	0	1	0	0	0	7390	1115	39	1	113	1	HS3ST1	4	11400816	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	11134961	11400816	179753460	32	7009											
LRRC66	339977	genome.wustl.edu	37	chr4	52862198	52862198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccagagtagaaatgccCgtgtgccttcctccctgggg	6	10	11	14	1	0	2	0	0	0	2	3	2	3	2	6	2	2	1	6	2	2	3	rs377070528		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:52862198C>T	ENST00000343457.3	-	4	996	c.990G>A	c.(988-990)acG>acA	p.T330T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	330						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TAGAAATGCCCGTGTGCCTTC	0.572																																																	0													35	35	35					4																	52862198		1875	4106	5981	SO:0001819	synonymous_variant	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.990G>A	4.37:g.52862198C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T330	ENST00000343457.3	37	c.990	CCDS43229.1	4																																																																																			LRRC66	-	NULL	ENSG00000188993		0.572	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1		0	15	0	C	NM_001024611		52862198	-1			no_errors	ENST00000343457	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.000	T	T	52862198	C	T	52862198	2	4	28	1	0	0	0	0	0	0	0	1	9053	639	23	1		1	LRRC66	4	52862198	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	41461382	52862198	138292078	33	7010											
KLHL8	57563	genome.wustl.edu	37	chr4	88097982	88097982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctccatactccctaaatGttcatttccatcatgtccac	10	14	2	15	0	3	0	2	0	1	0	7	0	6	0	4	0	1	1	4	0	3	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:88097982G>A	ENST00000273963.5	-	6	1476	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	KLHL8_ENST00000498875.2_Missense_Mutation_p.H303Y|KLHL8_ENST00000425278.2_Missense_Mutation_p.H196Y|KLHL8_ENST00000545252.1_Missense_Mutation_p.H28Y|KLHL8_ENST00000512111.1_Missense_Mutation_p.H379Y	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	379					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTCCCTAAATGTTCATTTCCA	0.333																																																	0													226	201	209					4																	88097982		2203	4300	6503	SO:0001583	missense	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1135C>T	4.37:g.88097982G>A	ENSP00000273963:p.His379Tyr		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H379Y	ENST00000273963.5	37	c.1135	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156685	0.57259	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.18	5.18	0.71444	Galactose oxidase, beta-propeller (1);	0.092954	0.85682	D	0.000000	T	0.77343	0.4116	N	0.16266	0.395	0.80722	D	1	D;D;D	0.89917	0.967;1.0;1.0	P;D;D	0.83275	0.878;0.993;0.996	T	0.70357	-0.4894	10	0.02654	T	1	.	18.6914	0.91585	0.0:0.0:1.0:0.0	.	196;303;379	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	Y	379;303;196;28;379	ENSP00000273963:H379Y;ENSP00000426451:H303Y;ENSP00000408854:H196Y;ENSP00000439514:H28Y;ENSP00000424131:H379Y	ENSP00000273963:H379Y	H	-	1	0	KLHL8	88317006	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	9.659000	0.98597	2.398000	0.81561	0.650000	0.86243	CAT	KLHL8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.333	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1		0	44	0	G			88097982	-1			no_errors	ENST00000273963	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	88097982	G	A	88097982	3	1	28	1	0	0	0	0	1	0	0	0	8422	1377	48	3	747	3	KLHL8	4	88097982	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	35235784	88097982	103056294	34	7011											
ENPEP	2028	genome.wustl.edu	37	chr4	111430828	111430828	+	Frame_Shift_Del	DEL	T	T	-																															gataaaatcgctattccagaTtttggcactggtgccatgga																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:111430828delT	ENST00000265162.5	+	5	1401	c.1059delT	c.(1057-1059)gatfs	p.D353fs	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	353					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTATTCCAGATTTTGGCACTG	0.403																																																	0													119	119	119					4																	111430828		2203	4300	6503	SO:0001589	frameshift_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1059delT	4.37:g.111430828delT	ENSP00000265162:p.Asp353fs		Q504U2	Frame_Shift_Del	DEL	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F354fs	ENST00000265162.5	37	c.1059	CCDS3691.1	4																																																																																			ENPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000138792		0.403	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2		0	43	0	T			111430828	1	tier1		no_errors	ENST00000265162	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	111430828	T	-	111430828	7	5	28	1	0	1	0	1	0	0	0	0	5144	1490	52	0	1077	0	ENPEP	4	111430828	Frame_Shift_Del	DEL	T	TCGA-IG-A625-01A-11D-A31U-09	23332846	111430828	79723448	35	7012											
FGG	2266	genome.wustl.edu	37	chr4	155528020	155528020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtcactaggatcatcGccaaaatcaaagccatcaaa	17	8	5	11	1	4	0	4	0	0	0	5	1	4	1	2	1	2	0	2	1	6	2	rs146218442		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr4:155528020G>A	ENST00000336098.3	-	8	1004	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FGG_ENST00000404648.3_Silent_p.G322G|FGG_ENST00000407946.1_Silent_p.G330G|FGG_ENST00000405164.1_Silent_p.G330G	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	322	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGGATCATCGCCAAAATCAA	0.473																																																	0								G	,	0,4406		0,0,2203	241	212	222		966,966	-11.6	0.9	4	dbSNP_134	222	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FGG	NM_000509.4,NM_021870.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	322/438,322/454	155528020	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"Fibrinogen C domain containing", "Endogenous ligands"	3694	protein-coding gene	gene with protein product		134850	"fibrinogen, gamma polypeptide"				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.966C>T	4.37:g.155528020G>A			A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G322	ENST00000336098.3	37	c.966	CCDS3788.1	4																																																																																			FGG	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000171557		0.473	FGG-002	KNOWN	basic|CCDS	protein_coding	FGG	HGNC	protein_coding	OTTHUMT00000317581.1	-	0	43	0	G	NM_021870		155528020	-1	tier1	rs146218442	no_errors	ENST00000336098	ensembl	human	known	74_37	silent	56.52	10	13	SNP	0.007	A	A	155528020	G	A	155528020	2	1	28	1	0	0	0	0	0	0	0	1	5892	1074	38	1		1	FGG	4	155528020	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	44097192	155528020	35626256	36	7013											
CDH10	1008	genome.wustl.edu	37	chr5	24491785	24491785	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaggattgcatgttgccTtggctgtcacaagcacacac	9	10	10	12	0	1	0	1	0	0	0	1	1	1	1	1	2	4	5	1	2	1	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:24491785T>C	ENST00000264463.4	-	11	2283	c.1776A>G	c.(1774-1776)caA>caG	p.Q592Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	592	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCATGTTGCCTTGGCTGTCAC	0.537										HNSCC(23;0.051)																																							0													160	138	145					5																	24491785		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1776A>G	5.37:g.24491785T>C			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q592	ENST00000264463.4	37	c.1776	CCDS3892.1	5																																																																																			CDH10	-	smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.537	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	23	0	T	NM_006727		24491785	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	silent	38.46	24	15	SNP	0.197	C	C	24491785	T	C	24491785	2	2	28	1	0	0	0	0	0	0	0	1	3103	1606	56	4		4	CDH10	5	24491785	Silent	SNP	T	TCGA-IG-A625-01A-11D-A31U-09		24491785	156423475	37	7014											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41051168	41051168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccttttcattctcatGaaagttagttttcactggtt	7	20	5	9	0	4	1	3	1	2	0	6	1	5	1	1	1	0	3	1	1	2	8			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:41051168G>T	ENST00000399564.4	-	13	1705	c.1255C>A	c.(1255-1257)Cat>Aat	p.H419N	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	419																	TCATTCTCATGAAAGTTAGTT	0.438																																																	0													62	61	61					5																	41051168		1835	4085	5920	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1255C>A	5.37:g.41051168G>T	ENSP00000382476:p.His419Asn		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H419N	ENST00000399564.4	37	c.1255	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	8.012	0.757693	0.15846	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.67345	-0.26	5.04	2.05	0.26809	Armadillo-type fold (1);	2.051990	0.01931	N	0.041250	T	0.42131	0.1189	N	0.03608	-0.345	0.09310	N	1	B	0.16166	0.016	B	0.16289	0.015	T	0.32375	-0.9909	10	0.25106	T	0.35	.	3.2165	0.06701	0.0955:0.1736:0.5516:0.1792	.	419	Q7Z745	HTRB2_HUMAN	N	123;419	ENSP00000382476:H419N	ENSP00000296803:H123N	H	-	1	0	HEATR7B2	41086925	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.953000	0.29162	0.503000	0.28060	0.655000	0.94253	CAT	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.438	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	56	0	G	NM_173489		41051168	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.000	T	T	41051168	G	T	41051168	3	4	28	1	0	0	0	0	1	0	0	0	7062	1290	45	3	3622	3	HEATR7B2	5	41051168	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	16559383	41051168	139864092	38	7015											
RAB3C	115827	genome.wustl.edu	37	chr5	58021834	58021834	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttattctttaggacacAgcaggccaggaaagatacag	13	12	9	7	0	1	1	0	0	1	1	1	3	1	3	1	3	2	1	1	3	4	7			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:58021834A>C	ENST00000282878.4	+	3	427	c.258A>C	c.(256-258)acA>acC	p.T86T	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	86					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		TTTAGGACACAGCAGGCCAGG	0.343																																																	0													131	128	129					5																	58021834		2203	4299	6502	SO:0001819	synonymous_variant	0			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"RAB, member RAS oncogene"	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.258A>C	5.37:g.58021834A>C				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T86	ENST00000282878.4	37	c.258	CCDS3976.1	5																																																																																			RAB3C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000152932		0.343	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	-	0	31	0	A	NM_138453		58021834	1	tier1	-	no_errors	ENST00000282878	ensembl	human	known	74_37	silent	55.00	18	22	SNP	1.000	C	C	58021834	A	C	58021834	2	2	28	1	0	0	0	0	0	0	0	1	12978	175	7	4		4	RAB3C	5	58021834	Silent	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	16970666	58021834	122893426	39	7016											
TTC37	9652	genome.wustl.edu	37	chr5	94803579	94803579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgccttacgtcaataagCtcatagtcatctttggcata	12	13	6	10	1	4	0	3	0	1	0	4	0	4	0	1	1	3	2	1	1	6	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:94803579C>T	ENST00000358746.2	-	42	4909	c.4611G>A	c.(4609-4611)gaG>gaA	p.E1537E		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1537						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.E1537E(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CGTCAATAAGCTCATAGTCAT	0.333																																																	1	Substitution - coding silent(1)	endometrium(1)											121	110	114					5																	94803579		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4611G>A	5.37:g.94803579C>T			O15077|Q6PJI3	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E1537	ENST00000358746.2	37	c.4611	CCDS4072.1	5																																																																																			TTC37	-	NULL	ENSG00000198677		0.333	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1		0	22	0	C	NM_014639		94803579	-1			no_errors	ENST00000358746	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	T	T	94803579	C	T	94803579	2	4	28	1	0	0	0	0	0	0	0	1	16754	796	28	3		3	TTC37	5	94803579	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	36781745	94803579	86111681	40	7017											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101735276	101735276	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcgtcatggccaagacGattggtacaccagaaaaacc	14	6	9	12	3	1	2	1	0	0	2	1	3	1	2	4	2	3	1	4	2	5	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:101735276G>T	ENST00000506729.1	-	10	1968	c.1797C>A	c.(1795-1797)atC>atA	p.I599I	SLCO6A1_ENST00000379810.1_Silent_p.I346I|SLCO6A1_ENST00000379807.3_Silent_p.I599I|SLCO6A1_ENST00000389019.3_Silent_p.I537I|SLCO6A1_ENST00000513675.1_Silent_p.I346I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	599						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGGCCAAGACGATTGGTACAC	0.308																																																	0													76	73	74					5																	101735276		2203	4300	6503	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1797C>A	5.37:g.101735276G>T			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.I599	ENST00000506729.1	37	c.1797	CCDS34206.1	5																																																																																			SLCO6A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.308	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1		0	48	0	G	NM_173488		101735276	-1			no_errors	ENST00000379807	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.000	T	T	101735276	G	T	101735276	2	4	28	1	0	0	0	0	0	0	0	1	14777	1048	37	2		2	SLCO6A1	5	101735276	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	6931697	101735276	79179984	41	7018											
CD14	929	genome.wustl.edu	37	chr5	140012199	140012199	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggttatctttaggtcctCgagcgtcagttccttgaggc	5	13	12	11	3	2	1	1	1	1	0	5	2	4	1	3	3	1	2	3	3	2	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr5:140012199C>A	ENST00000302014.6	-	2	999	c.370G>T	c.(370-372)Gag>Tag	p.E124*	CD14_ENST00000401743.2_Nonsense_Mutation_p.E124*	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	124					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)	p.E124Q(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTAGGTCCTCGAGCGTCAGT	0.632																																																	1	Substitution - Missense(1)	lung(1)											54	50	52					5																	140012199		2202	4299	6501	SO:0001587	stop_gained	0				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"CD molecules"	1628	protein-coding gene	gene with protein product		158120	"CD14 antigen"			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.370G>T	5.37:g.140012199C>A	ENSP00000304236:p.Glu124*		Q53XT5|Q96FR6|Q96L99|Q9UNS3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.E124*	ENST00000302014.6	37	c.370	CCDS4232.1	5	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755411	0.69648	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	.	.	.	5.96	2.12	0.27331	.	0.467437	0.19378	N	0.115725	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-21.8816	6.6961	0.23199	0.0:0.5551:0.2892:0.1557	.	.	.	.	X	124	.	ENSP00000304236:E124X	E	-	1	0	CD14	139992383	0.316000	0.24580	0.112000	0.21494	0.131000	0.20780	0.814000	0.27239	0.392000	0.25172	-0.150000	0.13652	GAG	CD14	-	pirsf_Monocyte_diff_Ag_CD14	ENSG00000170458		0.632	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2		0	44	0	C	NM_000591		140012199	-1			no_errors	ENST00000302014	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.031	A	A	140012199	C	A	140012199	4	1	28	1	0	0	0	0	0	1	0	0	2971	893	31	2	761	2	CD14	5	140012199	Nonsense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	38276923	140012199	40903061	42	7019											
MOG	4340	genome.wustl.edu	37	chr6	29627100	29627100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgtcttggacagggcaGttcagagtgataggaccaag	10	10	15	6	0	2	2	1	1	1	1	2	4	2	4	1	4	0	2	1	4	2	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:29627100G>T	ENST00000376917.3	+	2	322	c.93G>T	c.(91-93)caG>caT	p.Q31H	MOG_ENST00000376894.4_Missense_Mutation_p.Q31H|MOG_ENST00000490427.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.Q31H|MOG_ENST00000416766.2_Missense_Mutation_p.Q31H|MOG_ENST00000376898.3_Missense_Mutation_p.Q31H|MOG_ENST00000396701.2_Missense_Mutation_p.Q31H|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Missense_Mutation_p.Q31H|MOG_ENST00000431798.2_Missense_Mutation_p.Q31H|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Missense_Mutation_p.Q31H|MOG_ENST00000376902.3_Missense_Mutation_p.Q31H|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000494692.1_Missense_Mutation_p.Q31H	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	31					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGACAGGGCAGTTCAGAGTGA	0.522																																																	0													173	193	186					6																	29627100		1510	2709	4219	SO:0001583	missense	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.93G>T	6.37:g.29627100G>T	ENSP00000366115:p.Gln31His		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Splice_Site	SNP	-	e2-1	ENST00000376917.3	37	c.89-1	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009773	0.35415	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.08008	3.31;3.35;3.35;3.27;3.14;3.3;3.28;3.31;3.29;3.3;3.3	5.59	1.19	0.21007	.	0.000000	0.56097	D	0.000031	T	0.10809	0.0264	L	0.58302	1.8	0.28951	N	0.890392	D;D;D;D;D;D;D;D;D;D	0.71674	0.998;0.992;0.992;0.988;0.992;0.992;0.995;0.992;0.995;0.989	D;D;D;D;D;D;D;P;P;D	0.80764	0.994;0.972;0.972;0.985;0.97;0.97;0.988;0.867;0.77;0.961	T	0.03534	-1.1027	10	0.56958	D	0.05	.	10.2588	0.43414	0.3367:0.0:0.6633:0.0	.	31;31;31;31;31;31;31;31;31;31	C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;MOG_HUMAN;.;.;.	H	31	ENSP00000366115:Q31H;ENSP00000366100:Q31H;ENSP00000431709:Q31H;ENSP00000366091:Q31H;ENSP00000409394:Q31H;ENSP00000366088:Q31H;ENSP00000366095:Q31H;ENSP00000410866:Q31H;ENSP00000379929:Q31H;ENSP00000417405:Q31H;ENSP00000379932:Q31H	ENSP00000366088:Q31H	Q	+	3	2	MOG	29735079	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.883000	0.39658	0.280000	0.22209	0.655000	0.94253	CAG	MOG	-	-	ENSG00000204655		0.522	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3	-	0	29	0	G	NM_002433		29627100	1	tier1	-	no_errors	ENST00000376903	ensembl	human	known	74_37	splice_site	14.29	18	3	SNP	0.998	T	T	29627100	G	T	29627100	3	4	28	1	0	0	0	0	1	0	0	0	9731	1020	36	3	99	3	MOG	6	29627100	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		29627100	141487967	43	7020											
PPP1R10	5514	genome.wustl.edu	37	chr6	30573700	30573700	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccactttagactcacGctgtggcgggatgatcttca	7	12	9	13	2	3	2	2	1	1	1	4	3	4	3	2	2	0	1	2	2	1	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:30573700G>A	ENST00000376511.2	-	10	1405	c.853C>T	c.(853-855)Cct>Tct	p.P285S		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	285	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTAGACTCACGCTGTGGCGGG	0.458																																																	0													292	285	287					6																	30573700		2203	4300	6503	SO:0001630	splice_region_variant	0			Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9284	protein-coding gene	gene with protein product	"phosphatase 1 nuclear targeting subunit", "HLA-C associated transcript 53"	603771	"protein phosphatase 1, regulatory (inhibitor) subunit 10"			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.853+1C>T	6.37:g.30573700G>A			O00405	Missense_Mutation	SNP	pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH	p.P285S	ENST00000376511.2	37	c.853	CCDS4681.1	6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174425	0.57692	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.48836	0.8	5.68	5.68	0.88126	.	0.053525	0.85682	D	0.000000	T	0.48447	0.1500	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54860	-0.8230	10	0.62326	D	0.03	-8.5297	18.5564	0.91086	0.0:0.0:1.0:0.0	.	285	Q96QC0	PP1RA_HUMAN	S	285	ENSP00000365694:P285S	ENSP00000365694:P285S	P	-	1	0	PPP1R10	30681679	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.305000	0.89960	2.671000	0.90904	0.650000	0.86243	CCT	PPP1R10	-	NULL	ENSG00000204569		0.458	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R10	HGNC	protein_coding	OTTHUMT00000076556.2		0	94	0	G	NM_002714	Missense_Mutation	30573700	-1			no_errors	ENST00000376511	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	30573700	G	A	30573700	5	1	28	1	0	0	0	0	0	0	1	0	12394	1101	38	1	2013	1	PPP1R10	6	30573700	Splice_Site	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	946600	30573700	140541367	44	7021											
BAT3	7917	genome.wustl.edu	37	chr6	31610093	31610093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actccctgcgccaccagaagGggagcctggtgggggcatgg	7	5	17	12	1	0	1	0	0	0	1	1	2	1	2	4	6	2	1	4	6	1	0			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:31610093G>C	ENST00000375964.6	-	15	2354	c.2041C>G	c.(2041-2043)Cct>Gct	p.P681A	BAG6_ENST00000211379.5_Missense_Mutation_p.P675A|BAG6_ENST00000470875.1_5'UTR|BAG6_ENST00000362049.6_Missense_Mutation_p.P675A|BAG6_ENST00000439687.2_Intron|BAG6_ENST00000404765.2_Missense_Mutation_p.P711A|BAG6_ENST00000375976.4_Missense_Mutation_p.P675A	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	681	Pro-rich.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CCACCAGAAGGGGAGCCTGGT	0.642																																																	0													5	6	6					6																	31610093		1456	2649	4105	SO:0001583	missense	0			M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"HLA-B associated transcript 3"	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.2041C>G	6.37:g.31610093G>C	ENSP00000365131:p.Pro681Ala		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	pfam_DUF3538,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.P711A	ENST00000375964.6	37	c.2131	CCDS47403.1	6	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804714	0.50315	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000362049;ENST00000437771	T;T;T;T;T;T	0.44482	1.37;1.37;1.37;1.4;1.4;0.92	5.93	5.93	0.95920	.	0.306550	0.35838	N	0.002950	T	0.45756	0.1358	L	0.46157	1.445	0.41859	D	0.990218	D;P;P	0.67145	0.996;0.9;0.859	D;P;P	0.73708	0.981;0.543;0.648	T	0.13522	-1.0506	10	0.13853	T	0.58	.	17.325	0.87244	0.0:0.0:1.0:0.0	.	675;681;675	F8VXY4;P46379;P46379-2	.;BAG6_HUMAN;.	A	675;681;675;711;675;711	ENSP00000365143:P675A;ENSP00000365131:P681A;ENSP00000211379:P675A;ENSP00000384494:P711A;ENSP00000354875:P675A;ENSP00000397978:P711A	ENSP00000211379:P675A	P	-	1	0	BAG6	31718072	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.686000	0.54685	2.833000	0.97629	0.650000	0.86243	CCT	BAG6	-	NULL	ENSG00000204463		0.642	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAG6	HGNC	protein_coding			0	26	0	G	NM_080703		31610093	-1			no_errors	ENST00000404765	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	C	C	31610093	G	C	31610093	3	2	28	1	0	0	0	0	1	0	0	0	1323	1232	43	5	1401	5	BAT3	6	31610093	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	1036393	31610093	139504974	45	7022											
ATF6B	1388	genome.wustl.edu	37	chr6	32083613	32083613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcattgcctggggttGgggatggctgttttcggagc	3	13	18	7	1	0	0	0	0	0	0	1	2	0	2	1	7	2	4	1	7	0	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:32083613G>T	ENST00000375203.3	-	18	2047	c.2015C>A	c.(2014-2016)cCa>cAa	p.P672Q	ATF6B_ENST00000375201.4_Missense_Mutation_p.P669Q	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	672					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCCTGGGGTTGGGGATGGCTG	0.602																																																	0													62	65	64					6																	32083613		2203	4300	6503	SO:0001583	missense	0				CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"basic leucine zipper proteins"	2349	protein-coding gene	gene with protein product		600984	"cAMP responsive element binding protein-like 1"	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2015C>A	6.37:g.32083613G>T	ENSP00000364349:p.Pro672Gln		B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.P672Q	ENST00000375203.3	37	c.2015	CCDS4737.1	6	.	.	.	.	.	.	.	.	.	.	g	11.18	1.561517	0.27915	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.56275	0.47;1.22	5.05	4.17	0.49024	.	0.259713	0.23256	U	0.050194	T	0.21145	0.0509	L	0.38175	1.15	0.32357	N	0.557628	B;B	0.15719	0.005;0.014	B;B	0.12156	0.004;0.007	T	0.08576	-1.0715	10	0.12430	T	0.62	-1.5869	13.0296	0.58835	0.0:0.0:0.8379:0.1621	.	669;672	Q99941-2;Q99941	.;ATF6B_HUMAN	Q	672;669	ENSP00000364349:P672Q;ENSP00000364347:P669Q	ENSP00000364347:P669Q	P	-	2	0	ATF6B	32191591	0.997000	0.39634	0.633000	0.29310	0.579000	0.36224	2.556000	0.45862	1.230000	0.43646	0.461000	0.40582	CCA	ATF6B	-	NULL	ENSG00000213676		0.602	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATF6B	HGNC	protein_coding	OTTHUMT00000076638.2		0	39	0	G			32083613	-1			no_errors	ENST00000375203	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.968	T	T	32083613	G	T	32083613	3	4	28	1	0	0	0	0	1	0	0	0	1086	1348	47	3	100	3	ATF6B	6	32083613	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	473520	32083613	139031454	46	7023											
TJAP1	93643	genome.wustl.edu	37	chr6	43469320	43469320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggcctccgccaccagacGcactgaggccctggaacgtg	7	5	12	17	3	0	2	0	1	0	1	1	3	1	3	6	3	1	1	6	3	1	0	rs370044590	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:43469320G>A	ENST00000372445.5	+	6	561	c.185G>A	c.(184-186)cGc>cAc	p.R62H	TJAP1_ENST00000438588.2_Missense_Mutation_p.R62H|TJAP1_ENST00000372444.2_Missense_Mutation_p.R62H|TJAP1_ENST00000436109.2_Missense_Mutation_p.R62H|TJAP1_ENST00000259751.1_Missense_Mutation_p.R62H|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372452.1_Missense_Mutation_p.R62H|TJAP1_ENST00000372449.1_Missense_Mutation_p.R62H	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	62					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCCACCAGACGCACTGAGGCC	0.597													G|||	2	0.000399361	0	0	5008	,	,		16230	0.002		0	False		,,,				2504	0																0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	39	43	42		185,185,185,185,185,185	5.1	1	6		42	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense	TJAP1	NM_001146016.1,NM_001146017.1,NM_001146018.1,NM_001146019.1,NM_001146020.1,NM_080604.2	29,29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	62/558,62/558,62/548,62/548,62/548,62/548	43469320	2,13004	2203	4300	6503	SO:0001583	missense	0			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.185G>A	6.37:g.43469320G>A	ENSP00000361522:p.Arg62His		Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	NULL	p.R62H	ENST00000372445.5	37	c.185	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169017	0.78339	0.0	2.33E-4	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.08	5.08	0.68730	.	0.149133	0.42053	D	0.000774	T	0.75613	0.3873	L	0.34521	1.04	0.31852	N	0.622041	D;D;D	0.89917	0.975;1.0;0.999	P;D;D	0.83275	0.584;0.996;0.916	T	0.74569	-0.3622	10	0.38643	T	0.18	-7.1808	7.8378	0.29380	0.1422:0.0:0.8578:0.0	.	62;62;62	E2QRK7;Q5JTD0;Q5JTD0-2	.;TJAP1_HUMAN;.	H	62	ENSP00000361521:R62H;ENSP00000361522:R62H;ENSP00000407080:R62H;ENSP00000390981:R62H;ENSP00000259751:R62H;ENSP00000361530:R62H;ENSP00000361527:R62H;ENSP00000408769:R62H	ENSP00000259751:R62H	R	+	2	0	TJAP1	43577298	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.203000	0.65174	2.377000	0.81083	0.449000	0.29647	CGC	TJAP1	-	NULL	ENSG00000137221		0.597	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	HGNC	protein_coding	OTTHUMT00000040629.1	-	0	24	0	G	NM_080604		43469320	1	tier1	-	no_errors	ENST00000372445	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	A	A	43469320	G	A	43469320	3	1	28	1	0	0	0	0	1	0	0	0	15975	1087	38	1	195	1	TJAP1	6	43469320	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	11385707	43469320	127645747	47	7024											
SENP6	26054	genome.wustl.edu	37	chr6	76388386	76388386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggagaaaaccacaccAtcttcattggcccagtagaa	16	7	7	11	0	2	2	1	0	1	2	2	3	2	2	3	2	2	1	3	2	5	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:76388386A>G	ENST00000447266.2	+	15	2414	c.1936A>G	c.(1936-1938)Atc>Gtc	p.I646V	SENP6_ENST00000370010.2_Missense_Mutation_p.I639V|SENP6_ENST00000541192.1_Missense_Mutation_p.I242V|SENP6_ENST00000327284.8_Missense_Mutation_p.I639V|SENP6_ENST00000370014.3_Missense_Mutation_p.I646V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	646					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAACCACACCATCTTCATTGG	0.303																																																	0													131	124	126					6																	76388386		1797	4081	5878	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1936A>G	6.37:g.76388386A>G	ENSP00000402527:p.Ile646Val		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.I646V	ENST00000447266.2	37	c.1936	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	A	0.057	-1.233878	0.01505	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57	5.71	3.35	0.38373	.	0.282386	0.39341	N	0.001383	T	0.02649	0.0080	N	0.02736	-0.51	0.26714	N	0.970906	B;B;B	0.13594	0.002;0.0;0.008	B;B;B	0.12156	0.007;0.002;0.007	T	0.43814	-0.9368	10	0.08599	T	0.76	-4.753	4.6152	0.12422	0.5512:0.0:0.4488:0.0	.	639;646;639	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	V	639;646;639;646;536;242	ENSP00000359027:I639V;ENSP00000359031:I646V;ENSP00000321820:I639V;ENSP00000402527:I646V;ENSP00000391426:I536V;ENSP00000441715:I242V	ENSP00000321820:I639V	I	+	1	0	SENP6	76445106	1.000000	0.71417	0.959000	0.39883	0.307000	0.27823	4.258000	0.58822	0.983000	0.38602	-0.290000	0.09829	ATC	SENP6	-	NULL	ENSG00000112701		0.303	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	-	0	63	0	A	NM_015571		76388386	1	tier1	-	no_errors	ENST00000370014	ensembl	human	known	74_37	missense	39.22	31	20	SNP	0.988	G	G	76388386	A	G	76388386	3	3	28	1	0	0	0	0	1	0	0	0	14095	217	8	4	1994	4	SENP6	6	76388386	Missense_Mutation	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	32919066	76388386	94726681	48	7025											
HTR1E	3354	genome.wustl.edu	37	chr6	87725923	87725923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaacggaaggcagcaCgcatcctggggctgattctg	9	6	15	11	2	1	1	0	1	1	0	2	3	2	3	2	5	2	4	2	5	2	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:87725923C>T	ENST00000305344.5	+	2	1574	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	291					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R291C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GAAGGCAGCACGCATCCTGGG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											172	160	164					6																	87725923		2203	4300	6503	SO:0001583	missense	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.871C>T	6.37:g.87725923C>T	ENSP00000307766:p.Arg291Cys		E1P503|Q9P1Y1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R291C	ENST00000305344.5	37	c.871	CCDS5006.1	6	.	.	.	.	.	.	.	.	.	.	C	10.66	1.413221	0.25465	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.40476	1.03;1.03	4.44	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000022	T	0.57286	0.2043	M	0.74546	2.27	0.47276	D	0.999375	D	0.89917	1.0	D	0.69479	0.964	T	0.65372	-0.6184	10	0.87932	D	0	.	17.0403	0.86487	0.0:1.0:0.0:0.0	.	291	P28566	5HT1E_HUMAN	C	291	ENSP00000307766:R291C;ENSP00000358597:R291C	ENSP00000307766:R291C	R	+	1	0	HTR1E	87782642	0.989000	0.36119	0.988000	0.46212	0.164000	0.22412	2.763000	0.47605	2.041000	0.60428	0.205000	0.17691	CGC	HTR1E	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000168830		0.517	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0	72	0	C	NM_000865		87725923	1	tier1	-	no_errors	ENST00000305344	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.569	T	T	87725923	C	T	87725923	3	4	28	1	0	0	0	0	1	0	0	0	7466	536	19	1	873	1	HTR1E	6	87725923	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	11337537	87725923	83389144	49	7026											
MDN1	23195	genome.wustl.edu	37	chr6	90393001	90393001	+	Frame_Shift_Del	DEL	G	G	-																															tccaccagggatgaccggcaGggttcactcaggactgcttc																								rs527705775		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:90393001delG	ENST00000369393.3	-	73	12067	c.11952delC	c.(11950-11952)cccfs	p.P3984fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.P3984fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3984					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGACCGGCAGGGTTCACTCA	0.458																																																	0													70	63	65					6																	90393001		2203	4300	6503	SO:0001589	frameshift_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11952delC	6.37:g.90393001delG	ENSP00000358400:p.Pro3984fs		O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.C3985fs	ENST00000369393.3	37	c.11952	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.458	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	33	0	G			90393001	-1	tier1		no_errors	ENST00000369393	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.990	-	-	90393001	G	-	90393001	7	5	28	1	0	1	0	1	0	0	0	0	9453	987	35	0	4958	0	MDN1	6	90393001	Frame_Shift_Del	DEL	G	TCGA-IG-A625-01A-11D-A31U-09	2667078	90393001	80722066	50	7027											
CDC40	51362	genome.wustl.edu	37	chr6	110528714	110528714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttttgctttcaggttatGcattagacccttcattagat	8	19	6	8	0	2	2	2	0	0	2	2	2	2	2	1	1	2	3	1	1	3	8			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:110528714G>A	ENST00000368932.1	+	5	513	c.412G>A	c.(412-414)Gca>Aca	p.A138T	CDC40_ENST00000368930.1_Missense_Mutation_p.A138T|CDC40_ENST00000307731.1_Missense_Mutation_p.A138T			O60508	PRP17_HUMAN	cell division cycle 40	138					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTCAGGTTATGCATTAGACCC	0.254																																																	0													98	107	104					6																	110528714		2203	4295	6498	SO:0001583	missense	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.412G>A	6.37:g.110528714G>A	ENSP00000357928:p.Ala138Thr		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A138T	ENST00000368932.1	37	c.412	CCDS5081.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.516496|5.516496	0.96402|0.96402	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165;ENST00000453107|ENST00000431461	T;T;T;T|.	0.66460|.	-0.05;-0.21;-0.21;-0.05|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65913|0.65913	0.2737|0.2737	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	P|.	0.55965|.	0.788|.	T|T	0.60954|0.60954	-0.7160|-0.7160	10|5	0.51188|.	T|.	0.08|.	-9.413|-9.413	19.9384|19.9384	0.97150|0.97150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|.	O60508|.	PRP17_HUMAN|.	T|Y	138;138;138;138;138;35|30	ENSP00000357928:A138T;ENSP00000357929:A138T;ENSP00000357926:A138T;ENSP00000304370:A138T|.	ENSP00000304370:A138T|.	A|C	+|+	1|2	0|0	CDC40|CDC40	110635407|110635407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.174000|9.174000	0.94824|0.94824	2.717000|2.717000	0.92951|0.92951	0.585000|0.585000	0.79938|0.79938	GCA|TGC	CDC40	-	NULL	ENSG00000168438		0.254	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	-	0	77	0	G	NM_015891		110528714	1	tier1	-	no_errors	ENST00000307731	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	110528714	G	A	110528714	3	1	28	1	0	0	0	0	1	0	0	0	3077	1319	46	3	426	3	CDC40	6	110528714	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	20135713	110528714	60586353	51	7028											
REV3L	5980	genome.wustl.edu	37	chr6	111654555	111654555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagcaatacgcaacatcaTtgattccacacggtactgca	13	11	6	11	2	1	1	1	1	0	0	2	1	2	1	1	1	5	4	1	1	5	6	rs368840674		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:111654555T>C	ENST00000358835.3	-	24	8150	c.7696A>G	c.(7696-7698)Atg>Gtg	p.M2566V	REV3L_ENST00000435970.1_Missense_Mutation_p.M2488V|REV3L_ENST00000368802.3_Missense_Mutation_p.M2566V|REV3L_ENST00000368805.1_Missense_Mutation_p.M2566V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2566					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CGCAACATCATTGATTCCACA	0.388								DNA polymerases (catalytic subunits)																																									0													80	78	79					6																	111654555		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7696A>G	6.37:g.111654555T>C	ENSP00000351697:p.Met2566Val		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.M2566V	ENST00000358835.3	37	c.7696	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172701	0.57584	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.40476	2.37;2.37;2.37;1.03	5.78	5.78	0.91487	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.215054	0.51477	D	0.000084	T	0.36358	0.0964	L	0.53561	1.675	0.50039	D	0.999844	B	0.32653	0.379	B	0.44224	0.444	T	0.40270	-0.9572	10	0.59425	D	0.04	-6.3593	11.9473	0.52936	0.0:0.0694:0.0:0.9306	.	2566	O60673	DPOLZ_HUMAN	V	2566;2566;2566;2488;639	ENSP00000357792:M2566V;ENSP00000357795:M2566V;ENSP00000351697:M2566V;ENSP00000402003:M2488V	ENSP00000351697:M2566V	M	-	1	0	REV3L	111761248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.294000	0.72738	2.191000	0.70037	0.528000	0.53228	ATG	REV3L	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B	ENSG00000009413		0.388	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	53	0	T	NM_002912		111654555	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	C	C	111654555	T	C	111654555	3	2	28	1	0	0	0	0	1	0	0	0	13285	1493	52	4	1736	4	REV3L	6	111654555	Missense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09	1125841	111654555	59460512	52	7029											
RAB32	10981	genome.wustl.edu	37	chr6	146870631	146870632	+	Frame_Shift_Ins	INS	-	-	T																															ttggcaacatgacccgagtaINStactacaaggaagctgttgg																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:146870631_146870632insT	ENST00000367495.3	+	2	461_462	c.282_283insT	c.(283-285)tacfs	p.Y95fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	95					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TGACCCGAGTATACTACAAGGA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.283dupT	6.37:g.146870632_146870632dupT	ENSP00000356465:p.Tyr95fs			Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y94fs	ENST00000367495.3	37	c.282_283	CCDS5210.1	6																																																																																			RAB32	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000118508		0.361	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB32	HGNC	protein_coding	OTTHUMT00000042579.1		0	86	0	-	NM_006834		146870632	1	tier1		no_errors	ENST00000367495	ensembl	human	known	74_37	frame_shift_ins	32.88	49	24	INS	0.036:0.999	T	T	146870632	-	T	146870631	7	5	28	1	0	1	1	0	0	0	0	0	12966	436	16	0	288	0	RAB32	6	146870631	Frame_Shift_Ins	INS	-	TCGA-IG-A625-01A-11D-A31U-09	35216076	146870631	24244436	53	7030											
MAP3K4	4216	genome.wustl.edu	37	chr6	161508782	161508782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactcttgctgaggagaaGagtattattttgcagttact	11	14	10	6	0	1	3	0	1	1	2	1	5	1	3	0	1	3	4	0	1	4	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr6:161508782G>T	ENST00000392142.4	+	10	2767	c.2619G>T	c.(2617-2619)aaG>aaT	p.K873N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K873N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K873N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K873N	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	873					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CTGAGGAGAAGAGTATTATTT	0.413																																																	0													112	110	110					6																	161508782		2203	4300	6503	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2619G>T	6.37:g.161508782G>T	ENSP00000375986:p.Lys873Asn		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K873N	ENST00000392142.4	37	c.2619	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445816	0.63178	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.71461	-0.57;-0.56;-0.56;-0.57	5.73	3.59	0.41128	.	0.069299	0.64402	D	0.000017	T	0.55800	0.1943	L	0.44542	1.39	0.23043	N	0.998384	P;D;D	0.55800	0.893;0.968;0.973	P;P;P	0.51615	0.645;0.675;0.499	T	0.47661	-0.9100	10	0.37606	T	0.19	-47.0903	10.357	0.43969	0.2384:0.0:0.7616:0.0	.	873;873;873	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	N	873	ENSP00000355886:K873N;ENSP00000375986:K873N;ENSP00000355887:K873N;ENSP00000297332:K873N	ENSP00000297332:K873N	K	+	3	2	MAP3K4	161428772	0.970000	0.33590	0.283000	0.24790	0.950000	0.60333	1.761000	0.38440	1.567000	0.49668	-0.136000	0.14681	AAG	MAP3K4	-	NULL	ENSG00000085511		0.413	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0	37	0	G			161508782	1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.008	T	T	161508782	G	T	161508782	3	4	28	1	0	0	0	0	1	0	0	0	9290	933	33	3	2657	3	MAP3K4	6	161508782	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	14638151	161508782	9606285	54	7031											
MYO1G	64005	genome.wustl.edu	37	chr7	45015193	45015193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgattgcggttggtgcGggcattgccaaaggcctcca	6	11	15	9	2	0	1	0	1	0	0	1	1	1	1	3	4	3	3	3	4	1	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:45015193G>T	ENST00000258787.7	-	4	590	c.454C>A	c.(454-456)Cgc>Agc	p.R152S		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	152	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CGGTTGGTGCGGGCATTGCCA	0.567																																																	0													110	101	104					7																	45015193		2203	4300	6503	SO:0001583	missense	0			AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"Myosins / Myosin superfamily : Class I"	13880	protein-coding gene	gene with protein product	"minor histocompatibility antigen HA-2"	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.454C>A	7.37:g.45015193G>T	ENSP00000258787:p.Arg152Ser		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R152S	ENST00000258787.7	37	c.454	CCDS34629.1	7	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414639	0.62511	.	.	ENSG00000136286	ENST00000258787	T	0.71341	-0.56	4.44	4.44	0.53790	Myosin head, motor domain (3);	0.175329	0.27730	N	0.018082	T	0.64757	0.2627	L	0.33668	1.02	0.40792	D	0.983262	P;P	0.46277	0.875;0.797	P;P	0.47402	0.507;0.546	T	0.69431	-0.5147	10	0.87932	D	0	.	10.1695	0.42902	0.0:0.0:0.6983:0.3017	.	152;152	B0I1T2-4;B0I1T2	.;MYO1G_HUMAN	S	152	ENSP00000258787:R152S	ENSP00000258787:R152S	R	-	1	0	MYO1G	44981718	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.562000	0.73960	2.459000	0.83118	0.655000	0.94253	CGC	MYO1G	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000136286		0.567	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1G	HGNC	protein_coding	OTTHUMT00000341832.2	-	0	41	0	G			45015193	-1	tier1	-	no_errors	ENST00000258787	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	45015193	G	T	45015193	3	4	28	1	0	0	0	0	1	0	0	0	10112	1116	39	2	2678	2	MYO1G	7	45015193	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		45015193	114123470	55	7032											
ZNF679	168417	genome.wustl.edu	37	chr7	63726569	63726570	+	Frame_Shift_Ins	INS	-	-	A																															gaaagaaacatttcaaatgtINSaaaaaatatggcaaatcatt																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:63726569_63726570insA	ENST00000421025.1	+	5	827_828	c.558_559insA	c.(559-561)aaafs	p.K187fs	ZNF679_ENST00000255746.4_Frame_Shift_Ins_p.K187fs	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATTTCAAATGTAAAAAATATGG	0.327																																																	0																																										SO:0001589	frameshift_variant	0			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.564dupA	7.37:g.63726575_63726575dupA	ENSP00000416809:p.Lys187fs			Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y188fs	ENST00000421025.1	37	c.558_559	CCDS47592.1	7																																																																																			ZNF679	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197123		0.327	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2		0	80	0	-	NM_153363		63726570	1	tier1		no_errors	ENST00000255746	ensembl	human	known	74_37	frame_shift_ins	27.54	50	19	INS	0.332:0.014	A	A	63726570	-	A	63726569	7	5	28	1	0	1	1	0	0	0	0	0	18134	1644	57	0	572	0	ZNF679	7	63726569	Frame_Shift_Ins	INS	-	TCGA-IG-A625-01A-11D-A31U-09	18711376	63726569	95412094	56	7033											
GTPBP10	85865	genome.wustl.edu	37	chr7	89984453	89984453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctcaaggaggtcttggtGgtaaattacttacaaatttc	12	14	9	6	0	2	0	1	0	1	0	3	1	2	1	0	4	3	2	0	4	7	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:89984453G>A	ENST00000222511.6	+	4	439	c.373G>A	c.(373-375)Ggt>Agt	p.G125S	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	125					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						AGGTCTTGGTGGTAAATTACT	0.343																																																	0													102	108	106					7																	89984453		2203	4299	6502	SO:0001583	missense	0				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.373G>A	7.37:g.89984453G>A	ENSP00000222511:p.Gly125Ser		B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain	p.G125S	ENST00000222511.6	37	c.373	CCDS5617.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.271204	0.95429	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.61980	0.06;0.06;0.06	5.93	5.05	0.67936	GTP1/OBG subdomain (3);	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.998	P;D;D	0.75484	0.855;0.979;0.986	D	0.88163	0.2859	9	.	.	.	-7.6496	15.5314	0.75964	0.0672:0.0:0.9328:0.0	.	125;116;142	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	S	116;142;125	ENSP00000405697:G116S;ENSP00000389510:G142S;ENSP00000222511:G125S	.	G	+	1	0	GTPBP10	89822389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.982000	0.76173	2.798000	0.96311	0.655000	0.94253	GGT	GTPBP10	-	pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA	ENSG00000105793		0.343	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP10	HGNC	protein_coding	OTTHUMT00000059976.3		0	76	0	G	NM_033107		89984453	1			no_errors	ENST00000222511	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	89984453	G	A	89984453	3	1	28	1	0	0	0	0	1	0	0	0	6906	1348	47	3	387	3	GTPBP10	7	89984453	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	26257884	89984453	69154210	57	7034											
ZNHIT1	10467	genome.wustl.edu	37	chr7	100867224	100867224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctctgtctgcaggtgtctGaagtggactgtgtgagcctg	5	12	14	10	0	3	2	0	2	3	0	3	3	3	3	2	2	2	1	2	2	1	0			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:100867224G>A	ENST00000305105.2	+	5	978	c.450G>A	c.(448-450)ctG>ctA	p.L150L	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	150					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GCAGGTGTCTGAAGTGGACTG	0.602																																																	0													120	92	102					7																	100867224		2203	4300	6503	SO:0001819	synonymous_variant	0			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.450G>A	7.37:g.100867224G>A			Q6IB12	Silent	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.L150	ENST00000305105.2	37	c.450	CCDS5716.1	7																																																																																			ZNHIT1	-	NULL	ENSG00000106400		0.602	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT1	HGNC	protein_coding	OTTHUMT00000347488.1	-	0	32	0	G	NM_006349		100867224	1	tier1	-	no_errors	ENST00000305105	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	A	A	100867224	G	A	100867224	2	1	28	1	0	0	0	0	0	0	0	1	18254	1277	45	3		3	ZNHIT1	7	100867224	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	10882771	100867224	58271439	58	7035											
IMMP2L	83943	genome.wustl.edu	37	chr7	111161482	111161482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttgatgtatcttttcaCccacccttgtgactgtgcca	6	14	8	13	0	2	2	1	2	1	0	2	2	2	2	4	1	1	1	4	1	1	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:111161482C>A	ENST00000405709.2	-	2	464	c.22G>T	c.(22-24)Gtg>Ttg	p.V8L	IMMP2L_ENST00000331762.3_Missense_Mutation_p.V8L|IMMP2L_ENST00000452895.1_Missense_Mutation_p.V8L|IMMP2L_ENST00000437687.1_Missense_Mutation_p.V8L|IMMP2L_ENST00000447215.1_Missense_Mutation_p.V8L|IMMP2L_ENST00000415362.1_Missense_Mutation_p.V8L	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	8					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TATCTTTTCACCCACCCTTGT	0.418																																																	0													103	98	100					7																	111161482		2203	4300	6503	SO:0001583	missense	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)", "IMMP2L intronic transcript 1 (non-protein coding)"	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.22G>T	7.37:g.111161482C>A	ENSP00000384966:p.Val8Leu		Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.V8L	ENST00000405709.2	37	c.22	CCDS5753.1	7	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324672	0.41197	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000415362;ENST00000447215;ENST00000437687;ENST00000452753	.	.	.	5.97	3.17	0.36434	.	0.379952	0.28871	N	0.013875	T	0.23014	0.0556	N	0.22421	0.69	0.22620	N	0.998928	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25882	-1.0119	9	0.08381	T	0.77	-8.2613	7.7755	0.29035	0.1252:0.6893:0.1204:0.0651	.	8;8	Q96T52-2;Q96T52	.;IMP2L_HUMAN	L	8	.	ENSP00000329553:V8L	V	-	1	0	IMMP2L	110948718	0.911000	0.30947	0.716000	0.30569	0.953000	0.61014	1.418000	0.34782	0.407000	0.25591	-1.057000	0.02308	GTG	IMMP2L	-	NULL	ENSG00000184903		0.418	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	-	0	35	0	C	NM_032549		111161482	-1	tier1	-	no_errors	ENST00000331762	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.988	A	A	111161482	C	A	111161482	3	1	28	1	0	0	0	0	1	0	0	0	7744	507	18	3	525	3	IMMP2L	7	111161482	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	10294258	111161482	47977181	59	7036											
MKLN1	4289	genome.wustl.edu	37	chr7	131172442	131172442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaatttctttcctgacagCatgactcctcctaaaggcaa	12	12	6	11	0	1	2	0	2	1	0	4	2	4	2	3	1	1	3	3	1	5	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:131172442C>A	ENST00000352689.6	+	18	2203	c.2163C>A	c.(2161-2163)agC>agA	p.S721R	MKLN1_ENST00000421797.2_Missense_Mutation_p.S629R|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	721					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCCTGACAGCATGACTCCTC	0.428																																																	0													96	87	90					7																	131172442		2203	4300	6503	SO:0001583	missense	0			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.2163C>A	7.37:g.131172442C>A	ENSP00000323527:p.Ser721Arg		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.S721R	ENST00000352689.6	37	c.2163	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963089	0.34659	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.46819	1.85;0.86	5.69	3.84	0.44239	.	0.178584	0.64402	D	0.000010	T	0.31513	0.0799	N	0.19112	0.55	0.51012	D	0.999909	B;B	0.12013	0.005;0.001	B;B	0.14578	0.011;0.002	T	0.05209	-1.0899	10	0.33940	T	0.23	-13.045	10.8498	0.46763	0.0:0.7977:0.131:0.0713	.	721;698	Q9UL63;B4DG30	MKLN1_HUMAN;.	R	629;721	ENSP00000398094:S629R;ENSP00000323527:S721R	ENSP00000323527:S721R	S	+	3	2	MKLN1	130822982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.896000	0.63222	0.709000	0.31976	0.655000	0.94253	AGC	MKLN1	-	NULL	ENSG00000128585		0.428	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	-	0	70	0	C	NM_013255		131172442	1	tier1	-	no_errors	ENST00000352689	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	131172442	C	A	131172442	3	1	28	1	0	0	0	0	1	0	0	0	9641	709	25	3	2266	3	MKLN1	7	131172442	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	20010960	131172442	27966221	60	7037											
NUP205	23165	genome.wustl.edu	37	chr7	135261145	135261145	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctagacggggaaagacAtggaccctagaactcaggtc	13	6	12	10	1	2	3	1	0	1	3	3	5	2	5	1	4	1	0	1	4	4	2	rs143165300		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr7:135261145A>G	ENST00000285968.6	+	4	497	c.471A>G	c.(469-471)acA>acG	p.T157T	NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	157					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGGGAAAGACATGGACCCTAG	0.398													A|||	1	0.000199681	0	0	5008	,	,		18011	0.001		0	False		,,,				2504	0																0													143	137	139					7																	135261145		2203	4300	6503	SO:0001819	synonymous_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.471A>G	7.37:g.135261145A>G			A6H8X3|Q86YC1	Silent	SNP	pfam_Nup186/Nup192/Nup205	p.T157	ENST00000285968.6	37	c.471	CCDS34759.1	7																																																																																			NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.398	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1		0	73	0	A			135261145	1			no_errors	ENST00000285968	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.116	G	G	135261145	A	G	135261145	2	3	28	1	0	0	0	0	0	0	0	1	10798	204	8	4		4	NUP205	7	135261145	Silent	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	4088703	135261145	23877518	61	7038											
PRKDC	5591	genome.wustl.edu	37	chr8	48733437	48733437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcaataaatgtcagcaggGactggtcagcctctccctgg	9	10	11	11	0	4	0	3	0	1	0	5	1	4	1	2	3	2	1	2	3	3	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:48733437G>A	ENST00000314191.2	-	67	9232	c.9176C>T	c.(9175-9177)tCc>tTc	p.S3059F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S3059F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3060	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTCAGCAGGGACTGGTCAGC	0.463								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													66	65	65					8																	48733437		1922	4148	6070	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9176C>T	8.37:g.48733437G>A	ENSP00000313420:p.Ser3059Phe		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S3059F	ENST00000314191.2	37	c.9176		8	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767610	0.69878	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02944	4.17;4.1	5.16	5.16	0.70880	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.303951	0.30003	N	0.010644	T	0.12390	0.0301	M	0.66939	2.045	0.36956	D	0.893125	P;P	0.52316	0.952;0.952	P;P	0.57776	0.761;0.827	T	0.01045	-1.1470	10	0.59425	D	0.04	.	19.0225	0.92920	0.0:0.0:1.0:0.0	.	3059;3060	E7EUY0;P78527	.;PRKDC_HUMAN	F	3059	ENSP00000313420:S3059F;ENSP00000345182:S3059F	ENSP00000313420:S3059F	S	-	2	0	PRKDC	48895990	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	6.122000	0.71608	2.548000	0.85928	0.650000	0.86243	TCC	PRKDC	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000253729		0.463	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	58	0	G	NM_001081640		48733437	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	28.57	60	24	SNP	0.998	A	A	48733437	G	A	48733437	3	1	28	1	0	0	0	0	1	0	0	0	12563	1174	41	3	3291	3	PRKDC	8	48733437	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		48733437	97630585	62	7039											
GRHL2	79977	genome.wustl.edu	37	chr8	102555638	102555638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggacagtgctgctgccCtcggcctgctctatgactac	7	10	11	13	1	1	2	0	2	1	0	2	3	1	3	2	2	5	3	2	2	2	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:102555638C>T	ENST00000251808.3	+	2	528	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F	GRHL2_ENST00000395927.1_Missense_Mutation_p.L48F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	64	Transcription activation.				brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGCTGCTGCCCTCGGCCTGCT	0.532																																																	0													103	101	102					8																	102555638		2203	4300	6503	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.190C>T	8.37:g.102555638C>T	ENSP00000251808:p.Leu64Phe		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.L64F	ENST00000251808.3	37	c.190	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595980	0.86953	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.61040	0.14;0.14	5.85	4.96	0.65561	.	0.060323	0.64402	D	0.000002	T	0.73377	0.3579	M	0.81802	2.56	0.58432	D	0.999992	D;D;D	0.63880	0.986;0.993;0.993	P;D;D	0.66716	0.741;0.946;0.946	T	0.75935	-0.3142	10	0.72032	D	0.01	-17.0562	10.1618	0.42855	0.1338:0.7968:0.0:0.0694	.	64;64;64	B4DL28;Q6ISB3;A8K9Y8	.;GRHL2_HUMAN;.	F	64;48;64	ENSP00000251808:L64F;ENSP00000379260:L48F	ENSP00000251808:L64F	L	+	1	0	GRHL2	102624814	0.998000	0.40836	0.962000	0.40283	0.952000	0.60782	3.750000	0.55157	2.755000	0.94549	0.655000	0.94253	CTC	GRHL2	-	NULL	ENSG00000083307		0.532	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	-	0	43	0	C	NM_024915		102555638	1	tier1	-	no_errors	ENST00000251808	ensembl	human	known	74_37	missense	58.82	21	30	SNP	1.000	T	T	102555638	C	T	102555638	3	4	28	1	0	0	0	0	1	0	0	0	6791	681	24	3	196	3	GRHL2	8	102555638	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	53822201	102555638	43808384	63	7040											
KIAA0196	9897	genome.wustl.edu	37	chr8	126061249	126061249	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaaaatttattagataccTtcgttcttagaaagttatta	14	19	4	4	1	1	2	0	0	1	2	2	2	1	2	1	0	1	2	1	0	9	11			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:126061249T>C	ENST00000318410.7	-	19	2727	c.2378A>G	c.(2377-2379)aAg>aGg	p.K793R	KIAA0196_ENST00000517845.1_Splice_Site_p.K645R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	793					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATTAGATACCTTCGTTCTTAG	0.318																																																	0													63	58	59					8																	126061249		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2379+1A>G	8.37:g.126061249T>C			A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.K793R	ENST00000318410.7	37	c.2378	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.00|19.00	3.742272|3.742272	0.69418|0.69418	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.88896|.	-2.44;-2.44|.	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78685|0.78685	0.4322|0.4322	M|M	0.84082|0.84082	2.675|2.675	0.80722|0.80722	D|D	1|1	D;D|.	0.57571|.	0.98;0.979|.	P;D|.	0.74023|.	0.777;0.982|.	T|T	0.80663|0.80663	-0.1282|-0.1282	10|5	0.36615|.	T|.	0.2|.	-27.0624|-27.0624	16.2119|16.2119	0.82168|0.82168	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	645;793|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	R|G	793;645|410	ENSP00000318016:K793R;ENSP00000429676:K645R|.	ENSP00000318016:K793R|.	K|R	-|-	2|1	0|2	KIAA0196|KIAA0196	126130431|126130431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.174000|0.174000	0.22865|0.22865	7.933000|7.933000	0.87642|0.87642	2.288000|2.288000	0.76882|0.76882	0.482000|0.482000	0.46254|0.46254	AAG|AGA	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.318	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0	48	0	T	NM_014846	Missense_Mutation	126061249	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	C	C	126061249	T	C	126061249	5	2	28	1	0	0	0	0	0	0	1	0	8188	1623	56	4	1145	4	KIAA0196	8	126061249	Splice_Site	SNP	T	TCGA-IG-A625-01A-11D-A31U-09	23505611	126061249	20302773	64	7041											
NAPRT1	1936	genome.wustl.edu	37	chr8	144659490	144659491	+	IGR	INS	-	-	T																															cccccatcggggccctgagcINSccgcctcaggcccatctcta																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:144659490_144659491insT	ENST00000529272.1	-	0	1311				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Frame_Shift_Ins_p.A173fs|NAPRT1_ENST00000449291.2_Frame_Shift_Ins_p.A173fs|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000276844.7_Frame_Shift_Ins_p.A173fs|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Frame_Shift_Ins_p.A173fs			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGCCCTGAGCCCGCCTCAGGC	0.688																																																	0																																										SO:0001628	intergenic_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659490_144659491insT			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Frame_Shift_Ins	INS	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	p.A172fs	ENST00000529272.1	37	c.517_516	CCDS6405.1	8																																																																																			NAPRT1	-	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	ENSG00000147813		0.688	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382592.2		0	42	0	-	NM_032378		144659491	-1	tier1		no_errors	ENST00000276844	ensembl	human	known	74_37	frame_shift_ins	15.38	22	4	INS	0.971:0.015	T	T	144659491	-	T	144659490	6	5	28	0	1	1	1	0	0	0	0	0	10203	739	26	0		0	NAPRT1	8	144659490	IGR	INS	-	TCGA-IG-A625-01A-11D-A31U-09	18598241	144659490	1704532	65	7042	28	2									
NAPRT1	1936	genome.wustl.edu	37	chr8	144659491	144659492	+	IGR	INS	-	-	G																															ccccatcggggccctgagccINScgcctcaggcccatctctag																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr8:144659491_144659492insG	ENST00000529272.1	-	0	1311				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Frame_Shift_Ins_p.R172fs|NAPRT1_ENST00000449291.2_Frame_Shift_Ins_p.R172fs|NAPRT1_ENST00000460623.1_5'Flank|NAPRT1_ENST00000276844.7_Frame_Shift_Ins_p.R172fs|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000426292.3_Frame_Shift_Ins_p.R172fs			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGCCCTGAGCCCGCCTCAGGCC	0.693																																																	0																																										SO:0001628	intergenic_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191		8.37:g.144659491_144659492insG			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Frame_Shift_Ins	INS	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	p.A173fs	ENST00000529272.1	37	c.516_515	CCDS6405.1	8																																																																																			NAPRT1	-	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB	ENSG00000147813		0.693	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382592.2		0	42	0	-	NM_032378		144659492	-1	tier1		no_errors	ENST00000276844	ensembl	human	known	74_37	frame_shift_ins	15.38	22	4	INS	0.015:0.852	G	G	144659492	-	G	144659491	6	5	28	0	1	1	1	0	0	0	0	0	10203	610	22	0		0	NAPRT1	8	144659491	IGR	INS	-	TCGA-IG-A625-01A-11D-A31U-09	1	144659491	1704531	66	7043	28	2									
DCAF12	25853	genome.wustl.edu	37	chr9	34089557	34089557	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgttcccacagtgatGatgtgctcgtagaaactcac	9	11	9	12	1	1	3	1	2	0	1	3	3	2	3	2	0	3	3	2	0	2	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:34089557G>T	ENST00000361264.4	-	8	1397	c.1056C>A	c.(1054-1056)atC>atA	p.I352I	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	352					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCACAGTGATGATGTGCTCGT	0.502																																																	0													73	67	69					9																	34089557		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.1056C>A	9.37:g.34089557G>T			A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I352	ENST00000361264.4	37	c.1056	CCDS6549.1	9																																																																																			DCAF12	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198876		0.502	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	HGNC	protein_coding	OTTHUMT00000052133.2	-	0	50	0	G	NM_015397		34089557	-1	tier1	-	no_errors	ENST00000361264	ensembl	human	known	74_37	silent	32.84	45	22	SNP	1.000	T	T	34089557	G	T	34089557	2	4	28	1	0	0	0	0	0	0	0	1	4272	1280	45	3		3	DCAF12	9	34089557	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		34089557	107123874	67	7044											
NTRK2	4915	genome.wustl.edu	37	chr9	87635245	87635245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgggagattttcacctatgGcaaacagccctggtaccagc	10	9	11	11	0	1	1	1	0	0	1	1	2	1	1	3	3	4	2	3	3	3	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:87635245G>A	ENST00000323115.4	+	16	2602	c.2249G>A	c.(2248-2250)gGc>gAc	p.G750D	NTRK2_ENST00000376213.1_Missense_Mutation_p.G750D|NTRK2_ENST00000277120.3_Missense_Mutation_p.G766D|NTRK2_ENST00000376214.1_Missense_Mutation_p.G766D			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	750	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TTCACCTATGGCAAACAGCCC	0.557										TSP Lung(25;0.17)																																							0													125	115	118					9																	87635245		2203	4300	6503	SO:0001583	missense	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.2249G>A	9.37:g.87635245G>A	ENSP00000314586:p.Gly750Asp		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.G766D	ENST00000323115.4	37	c.2297	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.711085	0.96821	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000277120;ENST00000323115	D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97005	0.9022	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96716	0.9529	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	750;766	Q16620;Q16620-4	NTRK2_HUMAN;.	D	766;750;766;750	ENSP00000365387:G766D;ENSP00000365386:G750D;ENSP00000277120:G766D;ENSP00000314586:G750D	ENSP00000277120:G766D	G	+	2	0	NTRK2	86825065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.860000	0.99555	2.941000	0.99782	0.655000	0.94253	GGC	NTRK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000148053		0.557	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0	28	0	G			87635245	1			no_errors	ENST00000277120	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A	A	87635245	G	A	87635245	3	1	28	1	0	0	0	0	1	0	0	0	10746	1203	42	3	2438	3	NTRK2	9	87635245	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	53545688	87635245	53578186	68	7045											
DFNB31	25861	genome.wustl.edu	37	chr9	117186643	117186643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgagcagcttgaacaGggccatgacgagggcctcca	9	7	15	10	1	0	3	0	3	0	0	1	4	1	3	3	3	3	3	3	3	1	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:117186643G>T	ENST00000362057.3	-	6	1555	c.1387C>A	c.(1387-1389)Ctg>Atg	p.L463M	DFNB31_ENST00000265134.6_Missense_Mutation_p.L80M|DFNB31_ENST00000374059.3_Missense_Mutation_p.L112M	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	463					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTTGAACAGGGCCATGACG	0.642																																																	0													111	97	102					9																	117186643		2203	4300	6503	SO:0001583	missense	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1387C>A	9.37:g.117186643G>T	ENSP00000354623:p.Leu463Met		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L463M	ENST00000362057.3	37	c.1387	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829096	0.71258	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.26810	2.45;2.41;1.71	5.49	4.58	0.56647	.	0.076817	0.53938	D	0.000045	T	0.39462	0.1079	L	0.56396	1.775	0.80722	D	1	P;D;D	0.60575	0.948;0.978;0.988	P;P;P	0.61800	0.46;0.64;0.894	T	0.05305	-1.0893	10	0.45353	T	0.12	-15.6475	9.0497	0.36369	0.0742:0.0:0.7781:0.1477	.	463;463;112	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	M	80;112;463	ENSP00000265134:L80M;ENSP00000363172:L112M;ENSP00000354623:L463M	ENSP00000265134:L80M	L	-	1	2	DFNB31	116226464	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.199000	0.58426	2.746000	0.94184	0.561000	0.74099	CTG	DFNB31	-	NULL	ENSG00000095397		0.642	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2		0	49	0	G	NM_015404		117186643	-1			no_errors	ENST00000362057	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.996	T	T	117186643	G	T	117186643	3	4	28	1	0	0	0	0	1	0	0	0	4469	991	35	3	1364	3	DFNB31	9	117186643	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	29551398	117186643	24026788	69	7046											
CARD9	64170	genome.wustl.edu	37	chr9	139262253	139262253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggccccgggcgtgctgtgCgtgcagctcctcccgcgtgg	2	7	16	16	5	0	0	0	0	0	0	2	0	2	0	4	3	4	3	4	3	0	0	rs141270365	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr9:139262253C>A	ENST00000371732.5	-	8	1270	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S	CARD9_ENST00000460290.1_5'Flank|CARD9_ENST00000371734.3_Missense_Mutation_p.A369S	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	369					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCGTGCTGTGCGTGCAGCTCC	0.711																																																	0													30	27	28					9																	139262253		2195	4291	6486	SO:0001583	missense	0			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.1105G>T	9.37:g.139262253C>A	ENSP00000360797:p.Ala369Ser		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A369S	ENST00000371732.5	37	c.1105	CCDS6997.1	9	.	.	.	.	.	.	.	.	.	.	C	0.907	-0.720325	0.03182	.	.	ENSG00000187796	ENST00000371734;ENST00000371732	T;T	0.30714	1.52;1.52	3.51	-7.01	0.01594	.	1.351400	0.05133	N	0.492886	T	0.21921	0.0528	L	0.50333	1.59	0.09310	N	0.999997	B;B;B	0.30634	0.288;0.082;0.014	B;B;B	0.26094	0.066;0.065;0.018	T	0.17592	-1.0364	10	0.09338	T	0.73	0.1369	10.3512	0.43937	0.0:0.5208:0.2023:0.277	.	265;369;369	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	S	369	ENSP00000360799:A369S;ENSP00000360797:A369S	ENSP00000360797:A369S	A	-	1	0	CARD9	138382074	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.870000	0.01641	-2.633000	0.00433	-1.421000	0.01109	GCA	CARD9	-	NULL	ENSG00000187796		0.711	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD9	HGNC	protein_coding	OTTHUMT00000055053.1	-	0	10	0	C	NM_052813		139262253	-1	tier1	-	no_errors	ENST00000371732	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.000	A	A	139262253	C	A	139262253	3	1	28	1	0	0	0	0	1	0	0	0	2659	768	27	2	582	2	CARD9	9	139262253	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	22075610	139262253	1951178	70	7047											
PTER	9317	genome.wustl.edu	37	chr10	16553247	16553247	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctaagcaatggctaactTtcaaataggatggttgctta	13	12	8	8	0	1	0	1	0	0	0	1	1	1	1	1	3	3	4	1	3	6	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:16553247T>G	ENST00000378000.1	+	6	1288	c.1042T>G	c.(1042-1044)Ttc>Gtc	p.F348V	PTER_ENST00000423462.2_Missense_Mutation_p.F301V|PTER_ENST00000298942.3_Missense_Mutation_p.F348V|PTER_ENST00000535784.2_Missense_Mutation_p.F348V	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	348					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATGGCTAACTTTCAAATAGGA	0.368																																					Ovarian(2;46 150 15648 38137 47908)												0													120	119	119					10																	16553247		2203	4300	6503	SO:0001583	missense	0			BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.1042T>G	10.37:g.16553247T>G	ENSP00000367239:p.Phe348Val		B0YJ77|B3KTF5|D3DRU0|Q9BY46	Missense_Mutation	SNP	pfam_Aryldialkylphosphatase,pfam_TatD_family	p.F348V	ENST00000378000.1	37	c.1042	CCDS7111.1	10	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648285	0.67358	.	.	ENSG00000165983	ENST00000343656;ENST00000535784;ENST00000423462;ENST00000378000;ENST00000298942	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.78801	2.425	0.80722	D	1	P;P	0.45044	0.849;0.803	B;B	0.43623	0.425;0.397	T	0.57106	-0.7868	10	0.52906	T	0.07	-24.9134	16.3782	0.83418	0.0:0.0:0.0:1.0	.	301;348	Q96BW5-2;Q96BW5	.;PTER_HUMAN	V	348;348;301;348;348	ENSP00000439485:F348V;ENSP00000389535:F301V;ENSP00000367239:F348V;ENSP00000298942:F348V	ENSP00000298942:F348V	F	+	1	0	PTER	16593253	1.000000	0.71417	0.995000	0.50966	0.604000	0.37047	7.499000	0.81566	2.277000	0.76020	0.528000	0.53228	TTC	PTER	-	NULL	ENSG00000165983		0.368	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTER	HGNC	protein_coding	OTTHUMT00000047001.2	-	0	41	0	T	NM_030664		16553247	1	tier1	-	no_errors	ENST00000298942	ensembl	human	known	74_37	missense	53.85	18	21	SNP	1.000	G	G	16553247	T	G	16553247	3	3	28	1	0	0	0	0	1	0	0	0	12781	1841	64	4	1056	4	PTER	10	16553247	Missense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09		16553247	118981500	71	7048											
PTPLA	9200	genome.wustl.edu	37	chr10	17646048	17646049	+	Splice_Site	INS	-	-	A																															atagctagaaccaaccacctINSaaaaaaaaaaagtatttcat																								rs76004443		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:17646048_17646049insA	ENST00000361271.3	-	2	295		c.e2-2			NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A						fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ACCAACCACCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	0			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"cementum attachment protein"	610467	"protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.258-2->T	10.37:g.17646059_17646059dupA			B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Splice_Site	INS	-	e2-2	ENST00000361271.3	37	c.258-3_258-2	CCDS7121.1	10																																																																																			PTPLA	-	-	ENSG00000165996		0.297	PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLA	HGNC	protein_coding	OTTHUMT00000047046.1		0	30	0	-	NM_014241	Intron	17646049	-1	tier1		no_errors	ENST00000361271	ensembl	human	known	74_37	splice_site_ins	7.41	25	2	INS	1.000:0.005	A	A	17646049	-	A	17646048	8	5	28	1	0	1	1	0	0	0	1	0	12817	1536	53	0	634	0	PTPLA	10	17646048	Splice_Site	INS	-	TCGA-IG-A625-01A-11D-A31U-09	1092801	17646048	117888699	72	7049											
GPRIN2	9721	genome.wustl.edu	37	chr10	46999668	46999668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttcccaaactagtggCgtcagtgagcgagtctgggc	7	9	14	11	2	2	1	1	1	1	0	3	2	3	1	2	3	2	0	2	3	2	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:46999668C>T	ENST00000374317.1	+	3	1061	c.788C>T	c.(787-789)gCg>gTg	p.A263V	GPRIN2_ENST00000374314.4_Missense_Mutation_p.A263V	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	263										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAACTAGTGGCGTCAGTGAGC	0.622																																																	0													94	101	98					10																	46999668		2203	4300	6503	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.788C>T	10.37:g.46999668C>T	ENSP00000363436:p.Ala263Val		Q5SVF0	Missense_Mutation	SNP	NULL	p.A263V	ENST00000374317.1	37	c.788	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367932	0.42003	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03889	3.77;3.77	5.13	4.23	0.50019	.	0.000000	0.45867	D	0.000331	T	0.06508	0.0167	L	0.57536	1.79	0.37626	D	0.921502	B	0.31318	0.319	B	0.23852	0.049	T	0.15636	-1.0430	10	0.62326	D	0.03	-11.7799	11.7277	0.51718	0.0:0.9126:0.0:0.0874	.	263	O60269	GRIN2_HUMAN	V	263	ENSP00000363436:A263V;ENSP00000363433:A263V	ENSP00000363433:A263V	A	+	2	0	GPRIN2	46419674	1.000000	0.71417	0.849000	0.33467	0.228000	0.25075	6.476000	0.73587	1.313000	0.45069	0.436000	0.28706	GCG	GPRIN2	-	NULL	ENSG00000204175		0.622	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	-	0	33	0	C	NM_014696		46999668	1	tier1	-	no_errors	ENST00000374314	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.993	T	T	46999668	C	T	46999668	3	4	28	1	0	0	0	0	1	0	0	0	6757	768	27	1	790	1	GPRIN2	10	46999668	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	29353620	46999668	88535079	73	7050											
SCD	6319	genome.wustl.edu	37	chr10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-																															tccagatctctagctcctatAccaccaccaccaccattaca																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)												0																																										SO:0001651	inframe_deletion	0			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.T18in_frame_del	ENST00000370355.2	37	c.43_45	CCDS7493.1	10																																																																																			SCD	-	NULL	ENSG00000099194		0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD	HGNC	protein_coding	OTTHUMT00000049857.2		0	20	0	ACC	NM_005063		102107838	1	tier1		no_errors	ENST00000370355	ensembl	human	known	74_37	in_frame_del	7.41	25	2	DEL	0.998:0.990:0.094	-	-	102107838	ACC	-	102107836	7	5	28	1	0	1	0	1	0	0	0	0	13931	391	14	0	49	0	SCD	10	102107836	In_Frame_Del	DEL	ACC	TCGA-IG-A625-01A-11D-A31U-09	55108168	102107836	33426911	74	7051											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133978235	133978235	+	Frame_Shift_Del	DEL	A	A	-																															acaaataaaggaactggaggAaaaggtaaaacaaatgcagt																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr10:133978235delA	ENST00000298622.4	+	20	2618	c.2480delA	c.(2479-2481)gaafs	p.E827fs	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	827						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAACTGGAGGAAAAGGTAAAA	0.438																																																	0													91	100	97					10																	133978235		2202	4298	6500	SO:0001589	frameshift_variant	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2480delA	10.37:g.133978235delA	ENSP00000298622:p.Glu827fs		A6PW00|Q69YM6|Q6ZT29	Frame_Shift_Del	DEL	NULL	p.K828fs	ENST00000298622.4	37	c.2480	CCDS44494.1	10																																																																																			JAKMIP3	-	NULL	ENSG00000188385		0.438	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3		0	22	0	A	NM_194303		133978235	1	tier1		no_errors	ENST00000298622	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-	-	133978235	A	-	133978235	7	5	28	1	0	1	0	1	0	0	0	0	7969	246	9	0	2558	0	JAKMIP3	10	133978235	Frame_Shift_Del	DEL	A	TCGA-IG-A625-01A-11D-A31U-09	31870399	133978235	1556512	75	7052											
MUC6	4588	genome.wustl.edu	37	chr11	1017187	1017187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaatggtgcctgttggcaTtgagtggatggaggcagaag	10	9	18	4	0	0	2	0	1	0	1	0	5	0	5	1	6	1	3	1	6	2	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:1017187T>C	ENST00000421673.2	-	31	5664	c.5614A>G	c.(5614-5616)Atg>Gtg	p.M1872V		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1872	Approximate repeats.|Thr-rich.			M -> T (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGTTGGCATTGAGTGGATG	0.572																																																	0													474	451	459					11																	1017187		2200	4288	6488	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5614A>G	11.37:g.1017187T>C	ENSP00000406861:p.Met1872Val		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.M1872V	ENST00000421673.2	37	c.5614	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.190078	0.00302	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.81	0.0294	0.14162	.	.	.	.	.	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B	0.20671	0.047	B	0.31101	0.124	T	0.41734	-0.9492	9	0.29301	T	0.29	.	4.4687	0.11701	0.0:0.1238:0.1967:0.6795	.	1872	Q6W4X9	MUC6_HUMAN	V	1872	ENSP00000406861:M1872V	ENSP00000406861:M1872V	M	-	1	0	MUC6	1007187	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.035000	0.01423	-0.106000	0.12110	-0.908000	0.02827	ATG	MUC6	-	NULL	ENSG00000184956		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	-	0	455	0	T	XM_290540		1017187	-1	tier1	-	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	5.11	296	16	SNP	0.000	C	C	1017187	T	C	1017187	3	2	28	1	0	0	0	0	1	0	0	0	10018	1493	52	4	1717	4	MUC6	11	1017187	Missense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09		1017187	133989329	76	7053											
MUC5B	727897	genome.wustl.edu	37	chr11	1265736	1265736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttacagccatcccctcCtcctccctgggcaccacctg	6	9	6	20	0	0	0	0	0	0	0	4	0	4	0	8	1	3	2	8	1	1	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:1265736C>T	ENST00000529681.1	+	31	7684	c.7626C>T	c.(7624-7626)tcC>tcT	p.S2542S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S2545S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2542	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCATCCCCTCCTCCTCCCTGG	0.622																																																	0													10	13	12					11																	1265736		1752	3966	5718	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7626C>T	11.37:g.1265736C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S2545	ENST00000529681.1	37	c.7635	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	33	0	C	XM_001126093		1265736	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.000	T	T	1265736	C	T	1265736	2	4	28	1	0	0	0	0	0	0	0	1	10017	668	24	3		3	MUC5B	11	1265736	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	248549	1265736	133740780	77	7054											
CRY2	1408	genome.wustl.edu	37	chr11	45891258	45891258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcccttggattgatgccAtcatgacccaactgaggcag	9	10	10	12	0	1	3	1	3	0	0	2	4	2	4	3	2	2	2	3	2	1	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:45891258A>G	ENST00000443527.2	+	7	1169	c.1147A>G	c.(1147-1149)Atc>Gtc	p.I383V	CRY2_ENST00000417225.2_Missense_Mutation_p.I301V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	362					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GATTGATGCCATCATGACCCA	0.652																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0													79	79	79					11																	45891258		2203	4299	6502	SO:0001583	missense	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1147A>G	11.37:g.45891258A>G	ENSP00000406751:p.Ile383Val		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.I383V	ENST00000443527.2	37	c.1147	CCDS7915.2	11	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412506	0.83340	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.100306	0.64402	D	0.000003	T	0.71745	0.3376	M	0.81497	2.545	0.58432	D	0.999999	P;P;P	0.43392	0.682;0.481;0.805	B;B;P	0.46940	0.352;0.303;0.532	T	0.73366	-0.4005	9	0.41790	T	0.15	-26.9473	16.4943	0.84223	1.0:0.0:0.0:0.0	.	362;383;301	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	V	301;383	.	ENSP00000397419:I301V	I	+	1	0	CRY2	45847834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.291000	0.77112	0.533000	0.62120	ATC	CRY2	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000121671		0.652	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	-	0	37	0	A	NM_021117		45891258	1	tier1	-	no_errors	ENST00000443527	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	G	G	45891258	A	G	45891258	3	3	28	1	0	0	0	0	1	0	0	0	3911	217	8	4	1209	4	CRY2	11	45891258	Missense_Mutation	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	44625522	45891258	89115258	78	7055											
CTNND1	1500	genome.wustl.edu	37	chr11	57563062	57563062	+	Frame_Shift_Del	DEL	T	T	-																															catataggatcacagtcaccTtctatatagcaccatcccca																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:57563062delT	ENST00000399050.4	+	5	817	c.281delT	c.(280-282)cttfs	p.L95fs	CTNND1_ENST00000529986.1_5'UTR|CTNND1_ENST00000415361.2_5'UTR|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000530094.1_5'UTR|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000426142.2_5'UTR|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000528232.1_5'UTR|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000532844.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000524630.1_Frame_Shift_Del_p.L95fs|CTNND1_ENST00000532245.1_5'UTR|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000532787.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.L41fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532463.1_5'UTR|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.L41fs	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	95					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CACAGTCACCTTCTATATAGC	0.458																																																	0													46	51	49					11																	57563062		1922	4120	6042	SO:0001589	frameshift_variant	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.281delT	11.37:g.57563062delT	ENSP00000382004:p.Leu95fs		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L95fs	ENST00000399050.4	37	c.281	CCDS44604.1	11																																																																																			CTNND1	-	NULL	ENSG00000198561		0.458	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1		0	35	0	T	NM_001331		57563062	1	tier1		no_errors	ENST00000399050	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.992	-	-	57563062	T	-	57563062	7	5	28	1	0	1	0	1	0	0	0	0	4028	1609	56	0	291	0	CTNND1	11	57563062	Frame_Shift_Del	DEL	T	TCGA-IG-A625-01A-11D-A31U-09	11671804	57563062	77443454	79	7056											
BBS1	582	genome.wustl.edu	37	chr11	66297394	66297394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccccctgtccacgacaGcccgagagccactcaagctg	9	5	10	17	2	1	2	1	1	0	1	2	4	2	2	5	0	4	1	5	0	1	0			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:66297394G>A	ENST00000318312.7	+	14	1495	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.A353T|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.A519T|BBS1_ENST00000455748.2_Missense_Mutation_p.A385T	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	482					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTCCACGACAGCCCGAGAGCC	0.682									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													49	34	39					11																	66297394		2200	4295	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1444G>A	11.37:g.66297394G>A	ENSP00000317469:p.Ala482Thr		Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.A519T	ENST00000318312.7	37	c.1555	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	G	4.779	0.144899	0.09134	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748;ENST00000393994	D;D;D;D	0.96745	-4.04;-4.11;-3.93;-3.84	3.97	2.97	0.34412	.	.	.	.	.	D	0.89767	0.6810	N	0.25890	0.77	0.80722	D	1	B;B;B;B;B;B	0.21147	0.002;0.052;0.041;0.003;0.001;0.001	B;B;B;B;B;B	0.20955	0.002;0.012;0.032;0.004;0.002;0.002	T	0.82339	-0.0506	9	0.11794	T	0.64	.	5.0966	0.14737	0.1157:0.2143:0.67:0.0	.	157;385;353;370;482;519	B4DH75;E7EQH1;Q32MM9;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;.;.;BBS1_HUMAN;.	T	519;482;385;353	ENSP00000398526:A519T;ENSP00000317469:A482T;ENSP00000405764:A385T;ENSP00000377563:A353T	ENSP00000317469:A482T	A	+	1	0	BBS1;CTD-3074O7.11	66053970	0.915000	0.31059	0.759000	0.31340	0.188000	0.23474	1.960000	0.40422	2.226000	0.72624	0.650000	0.86243	GCC	CTD-3074O7.11	-	NULL	ENSG00000256349		0.682	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2		0	84	0	G			66297394	1			no_errors	ENST00000419755	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.999	A	A	66297394	G	A	66297394	3	1	28	1	0	0	0	0	1	0	0	0	1336	971	34	3	1498	3	BBS1	11	66297394	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	8734332	66297394	68709122	80	7057											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73068098	73068098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtggcaagaaggaccggtCtctcttcctgttcacggacc	7	9	12	13	3	3	1	1	0	2	1	5	3	4	3	3	5	0	2	3	5	2	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:73068098C>T	ENST00000263674.3	+	8	4270	c.3920C>T	c.(3919-3921)tCt>tTt	p.S1307F	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1307					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACCGGTCTCTCTTCCTG	0.632																																																	0													113	92	99					11																	73068098		2200	4293	6493	SO:0001583	missense	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3920C>T	11.37:g.73068098C>T	ENSP00000263674:p.Ser1307Phe		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.S1307F	ENST00000263674.3	37	c.3920	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768320	0.69878	.	.	ENSG00000110237	ENST00000263674	T	0.27402	1.67	4.8	3.9	0.45041	Pleckstrin homology-type (1);	0.120763	0.56097	D	0.000021	T	0.49389	0.1554	L	0.59436	1.845	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	T	0.48281	-0.9049	10	0.52906	T	0.07	-20.6628	12.1235	0.53905	0.0:0.9173:0.0:0.0827	.	1307	Q96PE2	ARHGH_HUMAN	F	1307	ENSP00000263674:S1307F	ENSP00000263674:S1307F	S	+	2	0	ARHGEF17	72745746	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	7.630000	0.83225	1.251000	0.43983	0.491000	0.48974	TCT	ARHGEF17	-	NULL	ENSG00000110237		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	-	0	42	0	C	NM_014786		73068098	1	tier1	-	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	73068098	C	T	73068098	3	4	28	1	0	0	0	0	1	0	0	0	900	913	32	3	3950	3	ARHGEF17	11	73068098	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	6770704	73068098	61938418	81	7058											
GLB1L3	112937	genome.wustl.edu	37	chr11	134188557	134188557	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttgtgttcatcaatggAcgtaaccttgggcgatattg	9	14	12	6	2	2	0	2	0	0	0	2	3	2	2	1	3	1	2	1	3	3	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr11:134188557A>G	ENST00000431683.2	+	19	1812	c.1812A>G	c.(1810-1812)ggA>ggG	p.G604G		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	604					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCATCAATGGACGTAACCTTG	0.428																																																	0													138	124	128					11																	134188557		1913	4116	6029	SO:0001819	synonymous_variant	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1812A>G	11.37:g.134188557A>G			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.G604	ENST00000431683.2	37	c.1812	CCDS44780.1	11																																																																																			GLB1L3	-	superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	ENSG00000166105		0.428	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0	48	0	A	NM_138416		134188557	1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	silent	34.00	33	17	SNP	0.012	G	G	134188557	A	G	134188557	2	3	28	1	0	0	0	0	0	0	0	1	6456	262	10	4		4	GLB1L3	11	134188557	Silent	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	61120459	134188557	817959	82	7059											
WNK1	65125	genome.wustl.edu	37	chr12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A																															gttggtacgggaggagcaagINSaaaaaaaaaagcaggaagag																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:970296_970297insA	ENST00000315939.6	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGGAGCAAGAAAAAAAAAAG	0.47																																					Colon(19;451 567 6672 12618 28860)												1	Unknown(1)	skin(1)																																								SO:0001589	frameshift_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1748dupA	12.37:g.970306_970306dupA	ENSP00000313059:p.Glu580fs		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K584fs	ENST00000315939.6	37	c.1738_1739	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.47	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1		0	25	0	-	NM_018979		970297	1	tier1		no_errors	ENST00000530271	ensembl	human	known	74_37	frame_shift_ins	11.11	24	3	INS	1.000:1.000	A	A	970297	-	A	970296	7	5	28	1	0	1	1	0	0	0	0	0	17426	943	33	0	1764	0	WNK1	12	970296	Frame_Shift_Ins	INS	-	TCGA-IG-A625-01A-11D-A31U-09		970296	132881599	83	7060											
VWF	7450	genome.wustl.edu	37	chr12	6153592	6153592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacaccagcttgaccatgggGggccgacaggataggctcct	9	6	13	13	1	0	1	0	1	0	0	1	3	1	2	4	5	1	2	4	5	1	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:6153592G>T	ENST00000261405.5	-	18	2561	c.2307C>A	c.(2305-2307)ccC>ccA	p.P769P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	769	Amino-terminal.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGACCATGGGGGGCCGACAGG	0.542																																																	0													63	56	58					12																	6153592		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2307C>A	12.37:g.6153592G>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P769	ENST00000261405.5	37	c.2307	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF	ENSG00000110799		0.542	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	23	0	G	NM_000552		6153592	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	70.37	8	19	SNP	0.994	T	T	6153592	G	T	6153592	2	4	28	1	0	0	0	0	0	0	0	1	17295	1219	43	3		3	VWF	12	6153592	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	5183296	6153592	127698303	84	7061											
MLL2	8085	genome.wustl.edu	37	chr12	49433518	49433518	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttacctgccgttgctTctccagctctgtttggctaa	6	15	7	13	1	3	0	1	0	2	0	4	0	3	0	3	1	5	5	3	1	3	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:49433518T>A	ENST00000301067.7	-	31	8034	c.8035A>T	c.(8035-8037)Aag>Tag	p.K2679*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2679					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGCCGTTGCTTCTCCAGCTCT	0.557																																																	0													34	38	37					12																	49433518		2007	4162	6169	SO:0001587	stop_gained	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8035A>T	12.37:g.49433518T>A	ENSP00000301067:p.Lys2679*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K2679*	ENST00000301067.7	37	c.8035	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	49	15.187459	0.99825	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.6	5.6	0.85130	.	0.000000	0.40385	N	0.001116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.0808	0.72113	0.0:0.0:0.0:1.0	.	.	.	.	X	2679	.	ENSP00000301067:K2679X	K	-	1	0	MLL2	47719785	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.137000	0.77295	2.263000	0.75096	0.533000	0.62120	AAG	KMT2D	-	NULL	ENSG00000167548		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	30	0	T			49433518	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	15.00	17	3	SNP	1.000	A	A	49433518	T	A	49433518	4	1	28	1	0	0	0	0	0	1	0	0	9659	1792	62	5	8674	5	MLL2	12	49433518	Nonsense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09	43279926	49433518	84418377	85	7062											
KITLG	4254	genome.wustl.edu	37	chr12	88910245	88910245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagcctgggttctgggCtcttgaatgatttttttaga	9	16	11	5	0	2	4	0	2	2	2	2	4	2	4	1	2	1	2	1	2	4	7			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr12:88910245C>T	ENST00000228280.5	-	5	568	c.386G>A	c.(385-387)aGc>aAc	p.S129N	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000347404.5_Missense_Mutation_p.S129N	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	129					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						GGGTTCTGGGCTCTTGAATGA	0.333									Testicular Cancer, Familial Clustering of																																								0													34	38	36					12																	88910245		2197	4290	6487	SO:0001583	missense	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.386G>A	12.37:g.88910245C>T	ENSP00000228280:p.Ser129Asn		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.S129N	ENST00000228280.5	37	c.386	CCDS31868.1	12	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169478	0.21621	.	.	ENSG00000049130	ENST00000378535;ENST00000228280;ENST00000347404	T;T	0.63255	-0.03;-0.03	4.43	2.34	0.29019	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.457889	0.24298	N	0.039754	T	0.44307	0.1287	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19224	-1.0312	10	0.16420	T	0.52	-0.0363	4.6059	0.12378	0.0:0.406:0.0:0.594	.	129;129	P21583-2;P21583	.;SCF_HUMAN	N	94;129;129	ENSP00000228280:S129N;ENSP00000054216:S129N	ENSP00000228280:S129N	S	-	2	0	KITLG	87434376	0.997000	0.39634	0.011000	0.14972	0.382000	0.30200	1.406000	0.34646	0.367000	0.24454	0.591000	0.81541	AGC	KITLG	-	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	ENSG00000049130		0.333	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	-	0	80	0	C	NM_003994		88910245	-1	tier1	-	no_errors	ENST00000228280	ensembl	human	known	74_37	missense	33.85	43	22	SNP	0.011	T	T	88910245	C	T	88910245	3	4	28	1	0	0	0	0	1	0	0	0	8357	797	28	3	455	3	KITLG	12	88910245	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	39476727	88910245	44941650	86	7063											
KBTBD7	84078	genome.wustl.edu	37	chr13	41767331	41767331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtcatagcagagaaaggGatctctaggatgtccaaaga	15	7	13	6	0	2	2	1	0	1	2	4	5	3	4	1	3	1	1	1	3	4	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr13:41767331G>A	ENST00000379483.3	-	1	1371	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	355										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CAGAGAAAGGGATCTCTAGGA	0.498																																																	0													93	66	75					13																	41767331		2203	4300	6503	SO:0001583	missense	0			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"BTB/POZ domain containing"	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1063C>T	13.37:g.41767331G>A	ENSP00000368797:p.Pro355Ser		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P355S	ENST00000379483.3	37	c.1063	CCDS9377.1	13	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195127	0.38806	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.66460	-0.21	4.9	4.9	0.64082	Kelch-type beta propeller (1);	0.143194	0.47455	U	0.000228	T	0.56906	0.2017	N	0.25890	0.77	0.43039	D	0.994626	D	0.53151	0.958	P	0.49252	0.604	T	0.56679	-0.7939	10	0.02654	T	1	.	15.5897	0.76517	0.0:0.0:1.0:0.0	.	355	Q8WVZ9	KBTB7_HUMAN	S	355;257	ENSP00000368797:P355S	ENSP00000368797:P355S	P	-	1	0	KBTBD7	40665331	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	5.998000	0.70653	2.246000	0.74042	0.557000	0.71058	CCC	KBTBD7	-	pirsf_Kelch-like_gigaxonin	ENSG00000120696		0.498	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	-	0	54	0	G	NM_032138		41767331	-1	tier1	-	no_errors	ENST00000379483	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	A	A	41767331	G	A	41767331	3	1	28	1	0	0	0	0	1	0	0	0	8025	1174	41	3	995	3	KBTBD7	13	41767331	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		41767331	73402547	87	7064											
KIAA0564	23078	genome.wustl.edu	37	chr13	42161713	42161713	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcctccattgtgcgctCaagccggccatccatcctgt	7	9	8	17	2	1	0	1	0	0	0	4	0	4	0	6	1	3	1	6	1	1	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr13:42161713C>A	ENST00000379310.3	-	42	5274	c.5206G>T	c.(5206-5208)Gag>Tag	p.E1736*		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1736	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATTGTGCGCTCAAGCCGGCCA	0.512																																																	0													105	106	106					13																	42161713		2080	4210	6290	SO:0001587	stop_gained	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5206G>T	13.37:g.42161713C>A	ENSP00000368612:p.Glu1736*		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Nonsense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.E1736*	ENST00000379310.3	37	c.5206	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.720033	0.99456	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	.	.	.	5.65	4.79	0.61399	.	0.051840	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.9304	0.86189	0.0:0.8719:0.1281:0.0	.	.	.	.	X	1640;1736	.	ENSP00000251030:E1640X	E	-	1	0	KIAA0564	41059713	1.000000	0.71417	0.894000	0.35097	0.188000	0.23474	5.594000	0.67557	1.496000	0.48567	-0.176000	0.13171	GAG	VWA8	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000102763		0.512	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2		0	65	0	C	NM_015058		42161713	-1			no_errors	ENST00000379310	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	A	A	42161713	C	A	42161713	4	1	28	1	0	0	0	0	0	1	0	0	8212	835	29	3	527	3	KIAA0564	13	42161713	Nonsense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	394382	42161713	73008165	88	7065											
DDHD1	80821	genome.wustl.edu	37	chr14	53525283	53525283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccagtatttcctgggCggatgccacgcaacgccaag	9	8	11	13	3	0	0	0	0	0	0	2	2	2	1	4	2	2	2	4	2	3	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:53525283C>T	ENST00000323669.5	-	9	1903	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	DDHD1_ENST00000395606.1_Missense_Mutation_p.R642H|DDHD1_ENST00000357758.3_Missense_Mutation_p.R635H	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	635	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATTTCCTGGGCGGATGCCACG	0.388																																																	0													78	83	81					14																	53525283		2203	4300	6503	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1904G>A	14.37:g.53525283C>T	ENSP00000327104:p.Arg635His		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.R635H	ENST00000323669.5	37	c.1904	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.429557	0.96131	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	6.14	6.14	0.99180	DDHD (2);	0.045624	0.85682	D	0.000000	T	0.73705	0.3621	L	0.42581	1.335	0.80722	D	1	P;D;D;D	0.89917	0.919;1.0;1.0;1.0	P;D;D;D	0.77004	0.588;0.989;0.987;0.985	T	0.70212	-0.4934	9	0.41790	T	0.15	-14.1424	17.975	0.89124	0.0:1.0:0.0:0.0	.	31;642;635;635	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	H	635;642;635;506	.	ENSP00000327104:R635H	R	-	2	0	DDHD1	52595033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.811000	0.86092	2.927000	0.99377	0.637000	0.83480	CGC	DDHD1	-	pfam_DDHD,pfscan_DDHD	ENSG00000100523		0.388	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	-	0	53	0	C			53525283	-1	tier1	-	no_errors	ENST00000323669	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	53525283	C	T	53525283	3	4	28	1	0	0	0	0	1	0	0	0	4335	768	27	1	818	1	DDHD1	14	53525283	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09		53525283	53824257	89	7066											
C14orf135	64430	genome.wustl.edu	37	chr14	60592519	60592519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagccatacttgttttCtctggggtatgattctaata	12	15	8	6	0	2	2	0	1	2	1	3	2	2	2	1	2	2	2	1	2	6	8	rs141434749		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:60592519C>A	ENST00000406854.1	+	10	3799	c.3245C>A	c.(3244-3246)tCt>tAt	p.S1082Y	PCNXL4_ENST00000535349.1_Missense_Mutation_p.S289Y|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S1082Y|PCNXL4_ENST00000317623.4_Missense_Mutation_p.S848Y|PCNXL4_ENST00000406949.1_Missense_Mutation_p.S848Y			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	1082						integral component of membrane (GO:0016021)											TACTTGTTTTCTCTGGGGTAT	0.294																																																	0													49	54	52					14																	60592519		2203	4299	6502	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.3245C>A	14.37:g.60592519C>A	ENSP00000384801:p.Ser1082Tyr		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.S1082Y	ENST00000406854.1	37	c.3245		14	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005995	0.74932	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681;ENST00000535349	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.26	4.35	0.52113	.	0.233674	0.45126	D	0.000385	T	0.67627	0.2913	M	0.73962	2.25	0.51233	D	0.999918	D;D	0.71674	0.998;0.997	D;D	0.69654	0.965;0.964	T	0.72950	-0.4136	10	0.87932	D	0	.	15.4767	0.75485	0.0:0.856:0.144:0.0	.	1082;848	Q63HM2;B5MC47	CN135_HUMAN;.	Y	848;1082;848;1082;289	ENSP00000317396:S848Y;ENSP00000384801:S1082Y;ENSP00000385201:S848Y;ENSP00000385713:S1082Y;ENSP00000445644:S289Y	ENSP00000317396:S848Y	S	+	2	0	C14orf135	59662272	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.779000	0.68948	1.184000	0.42957	0.557000	0.71058	TCT	PCNXL4	-	pfam_Pecanex	ENSG00000126773		0.294	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1		0	43	0	C	NM_022495		60592519	1			no_errors	ENST00000404681	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	60592519	C	A	60592519	3	1	28	1	0	0	0	0	1	0	0	0	1750	913	32	3	2573	3	C14orf135	14	60592519	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	7067236	60592519	46757021	90	7067											
MLH3	27030	genome.wustl.edu	37	chr14	75513750	75513750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttagaggctagtgattcaGatgacttctcaaggtccaaa	13	12	9	7	0	2	4	2	2	1	2	4	4	3	4	1	2	0	1	1	2	4	5			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:75513750G>T	ENST00000556740.1	-	1	2644	c.2609C>A	c.(2608-2610)tCt>tAt	p.S870Y	MLH3_ENST00000380968.2_De_novo_Start_OutOfFrame|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Missense_Mutation_p.S870Y|MLH3_ENST00000355774.2_Missense_Mutation_p.S870Y|MLH3_ENST00000238662.7_Missense_Mutation_p.S870Y|MLH3_ENST00000544985.1_5'Flank			Q9UHC1	MLH3_HUMAN	mutL homolog 3	870					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TAGTGATTCAGATGACTTCTC	0.383								Mismatch excision repair (MMR)																																									0													112	119	117					14																	75513750		2203	4300	6503	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2609C>A	14.37:g.75513750G>T	ENSP00000452316:p.Ser870Tyr		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C	p.S870Y	ENST00000556740.1	37	c.2609	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496319	0.26861	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.80824	-1.37;-1.37;-1.42;-1.37	5.83	3.68	0.42216	.	0.763029	0.12650	N	0.450500	T	0.69504	0.3118	N	0.22421	0.69	0.19775	N	0.999951	P;P	0.48230	0.907;0.85	B;B	0.41036	0.346;0.188	T	0.59878	-0.7371	10	0.44086	T	0.13	-1.9431	11.9125	0.52747	0.1598:0.0:0.8402:0.0	.	870;870	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	Y	870	ENSP00000348020:S870Y;ENSP00000238662:S870Y;ENSP00000451540:S870Y;ENSP00000452316:S870Y	ENSP00000238662:S870Y	S	-	2	0	MLH3	74583503	0.826000	0.29277	0.469000	0.27204	0.915000	0.54546	2.046000	0.41260	1.459000	0.47892	0.650000	0.86243	TCT	MLH3	-	NULL	ENSG00000119684		0.383	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	-	0	28	0	G	NM_014381		75513750	-1	tier1	-	no_errors	ENST00000355774	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.094	T	T	75513750	G	T	75513750	3	4	28	1	0	0	0	0	1	0	0	0	9656	942	33	3	1800	3	MLH3	14	75513750	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	14921231	75513750	31835790	91	7068											
KIAA1409	57578	genome.wustl.edu	37	chr14	94155164	94155164	+	Frame_Shift_Del	DEL	C	C	-																															atctgccttggctttatcatCccccctctgcaatgcagcaa																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr14:94155164delC	ENST00000393151.2	+	45	7180	c.7180delC	c.(7180-7182)cccfs	p.P2395fs	UNC79_ENST00000555664.1_Frame_Shift_Del_p.P2356fs|UNC79_ENST00000553484.1_Frame_Shift_Del_p.P2417fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.P2218fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2395					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTTTATCATCCCCCCTCTGC	0.537																																																	0													107	94	98					14																	94155164		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7180delC	14.37:g.94155164delC	ENSP00000376858:p.Pro2395fs		B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.S2418fs	ENST00000393151.2	37	c.7246		14																																																																																			UNC79	-	NULL	ENSG00000133958		0.537	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1		0	26	0	C	XM_028395		94155164	1	tier1		no_errors	ENST00000553484	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-	-	94155164	C	-	94155164	7	5	28	1	0	1	0	1	0	0	0	0	8257	855	30	0	6815	0	KIAA1409	14	94155164	Frame_Shift_Del	DEL	C	TCGA-IG-A625-01A-11D-A31U-09	18641414	94155164	13194376	92	7069											
VPS13C	54832	genome.wustl.edu	37	chr15	62147075	62147075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttaaattgtttacctctgCtgtggcggtgtccttcaggt	5	17	10	9	1	2	0	1	0	1	0	3	0	3	0	2	3	2	2	2	3	3	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr15:62147075C>T	ENST00000261517.5	-	84	11228	c.11155G>A	c.(11155-11157)Gca>Aca	p.A3719T	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.A3676T	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTACCTCTGCTGTGGCGGTG	0.373																																																	0													62	60	61					15																	62147075		2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11155G>A	15.37:g.62147075C>T	ENSP00000261517:p.Ala3719Thr			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.A3719T	ENST00000261517.5	37	c.11155	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537223	0.85812	.	.	ENSG00000129003	ENST00000249837;ENST00000261517	T;T	0.51574	0.7;0.7	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	M	0.77820	2.39	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.66084	0.896;0.941	T	0.71523	-0.4567	10	0.72032	D	0.01	.	13.9847	0.64326	0.0:1.0:0.0:0.0	.	3676;3719	Q709C8-3;Q709C8	.;VP13C_HUMAN	T	3676;3719	ENSP00000249837:A3676T;ENSP00000261517:A3719T	ENSP00000249837:A3676T	A	-	1	0	VPS13C	59934367	1.000000	0.71417	0.990000	0.47175	0.147000	0.21601	4.060000	0.57477	2.436000	0.82500	0.591000	0.81541	GCA	VPS13C	-	NULL	ENSG00000129003		0.373	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	69	0	C	NM_017684		62147075	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.997	T	T	62147075	C	T	62147075	3	4	28	1	0	0	0	0	1	0	0	0	17240	797	28	3	114	3	VPS13C	15	62147075	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09		62147075	40384317	93	7070											
ANKDD1A	348094	genome.wustl.edu	37	chr15	65236929	65236929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcataaaagctgatcgtttCtacagatgggagaaggtacg	14	10	11	6	2	2	3	1	1	1	2	3	4	2	3	0	2	3	3	0	2	5	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr15:65236929C>A	ENST00000380230.3	+	12	1175	c.1146C>A	c.(1144-1146)ttC>ttA	p.F382L	ANKDD1A_ENST00000357698.3_Intron|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.F382L|ANKDD1A_ENST00000395723.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	382					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGATCGTTTCTACAGATGGG	0.517																																																	0													115	95	101					15																	65236929		2202	4299	6501	SO:0001583	missense	0				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"Ankyrin repeat domain containing"	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1146C>A	15.37:g.65236929C>A	ENSP00000369579:p.Phe382Leu		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt	p.F382L	ENST00000380230.3	37	c.1146	CCDS10197.2	15	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392181	0.42410	.	.	ENSG00000166839	ENST00000380230;ENST00000395720	T;T	0.33865	1.39;1.41	5.23	3.22	0.36961	Ankyrin repeat-containing domain (1);	0.086087	0.45867	N	0.000335	T	0.22666	0.0547	L	0.34521	1.04	0.80722	D	1	B	0.13594	0.008	B	0.18263	0.021	T	0.04708	-1.0932	10	0.12103	T	0.63	-16.7793	7.9299	0.29897	0.0:0.7567:0.0:0.2433	.	382	Q495B1	AKD1A_HUMAN	L	382	ENSP00000369579:F382L;ENSP00000379070:F382L	ENSP00000369579:F382L	F	+	3	2	ANKDD1A	63023982	0.998000	0.40836	0.967000	0.41034	0.993000	0.82548	0.525000	0.22956	1.447000	0.47661	0.591000	0.81541	TTC	ANKDD1A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000166839		0.517	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKDD1A	HGNC	protein_coding	OTTHUMT00000256705.2		0	19	0	C	NM_182703		65236929	1			no_errors	ENST00000380230	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.999	A	A	65236929	C	A	65236929	3	1	28	1	0	0	0	0	1	0	0	0	624	912	32	3	1192	3	ANKDD1A	15	65236929	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	3089854	65236929	37294463	94	7071											
ULK3	25989	genome.wustl.edu	37	chr15	75132906	75132906	+	Frame_Shift_Del	DEL	G	G	-																															tgccgctggcacaccatctcGggggccatgtagagggggga																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr15:75132906delG	ENST00000440863.2	-	5	637	c.546delC	c.(544-546)cccfs	p.P182fs	ULK3_ENST00000569437.1_Frame_Shift_Del_p.P182fs|ULK3_ENST00000568667.1_Frame_Shift_Del_p.P193fs	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						ACACCATCTCGGGGGCCATGT	0.607																																																	0													20	22	21					15																	75132906		2022	4156	6178	SO:0001589	frameshift_variant	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.546delC	15.37:g.75132906delG	ENSP00000400312:p.Pro182fs		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom	p.E183fs	ENST00000440863.2	37	c.546	CCDS45305.1	15																																																																																			ULK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140474		0.607	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4		0	18	0	G	NM_015518		75132906	-1	tier1		no_errors	ENST00000440863	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.002	-	-	75132906	G	-	75132906	7	5	28	1	0	1	0	1	0	0	0	0	17026	1103	39	0	920	0	ULK3	15	75132906	Frame_Shift_Del	DEL	G	TCGA-IG-A625-01A-11D-A31U-09	9895977	75132906	27398486	95	7072											
ITGAL	3683	genome.wustl.edu	37	chr16	30484186	30484186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcctgcatcactgtgatgGccatggcgctgctgtctggg	5	12	13	11	1	2	1	1	1	1	0	3	1	3	1	2	3	2	3	2	3	0	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr16:30484186G>A	ENST00000356798.6	+	1	208	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ITGAL_ENST00000433423.2_Missense_Mutation_p.A10T|ITGAL_ENST00000454514.2_Missense_Mutation_p.A10T|ITGAL_ENST00000358164.5_Missense_Mutation_p.A10T|Y_RNA_ENST00000410769.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	10					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CACTGTGATGGCCATGGCGCT	0.597																																					NSCLC(110;1462 1641 3311 33990 49495)												0													142	112	122					16																	30484186		2197	4300	6497	SO:0001583	missense	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.28G>A	16.37:g.30484186G>A	ENSP00000349252:p.Ala10Thr		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.A10T	ENST00000356798.6	37	c.28	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574639	0.28092	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000454514;ENST00000433423	D;T;D;T	0.92647	-3.08;0.74;-3.08;1.91	4.75	-0.304	0.12788	.	2.017590	0.02464	N	0.086812	T	0.81418	0.4818	N	0.05230	-0.09	0.09310	N	1	B;B;B	0.10296	0.002;0.001;0.003	B;B;B	0.08055	0.001;0.001;0.003	T	0.70189	-0.4940	10	0.27082	T	0.32	.	4.4351	0.11547	0.4932:0.3271:0.1797:0.0	.	10;10;10	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	T	10	ENSP00000349252:A10T;ENSP00000350886:A10T;ENSP00000408615:A10T;ENSP00000409377:A10T	ENSP00000349252:A10T	A	+	1	0	ITGAL	30391687	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.251000	0.18257	-0.165000	0.10908	-2.663000	0.00146	GCC	ITGAL	-	NULL	ENSG00000005844		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0	49	0	G			30484186	1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	A	A	30484186	G	A	30484186	3	1	28	1	0	0	0	0	1	0	0	0	7913	1203	42	3	30	3	ITGAL	16	30484186	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		30484186	59870567	96	7073											
TP53	7157	genome.wustl.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAACCAGACCTCAGGCGGC	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	GRCh37	CS071266	TP53	S							80	75	77					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e5+1	ENST00000269305.4	37	c.672+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.	TP53	-	-	ENSG00000141510		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	44	0	C	NM_000546	Intron	7578176	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	79.41	7	27	SNP	1.000	A	A	7578176	C	A	7578176	5	1	28	1	0	0	0	0	0	0	1	0	16429	521	18	3	621	3	TP53	17	7578176	Splice_Site	SNP	C	TCGA-IG-A625-01A-11D-A31U-09		7578176	73617034	97	7074											
SCN4A	6329	genome.wustl.edu	37	chr17	62022996	62022996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggagggcgttcaccacCacctgggggccagggggtcc	6	5	16	14	1	1	0	1	0	0	0	2	1	2	1	6	6	0	1	6	6	1	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:62022996C>T	ENST00000435607.1	-	19	3520	c.3444G>A	c.(3442-3444)gtG>gtA	p.V1148V	SCN4A_ENST00000578147.1_Silent_p.V1148V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1148					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGTTCACCACCACCTGGGGGC	0.607																																																	0													89	95	93					17																	62022996		2194	4297	6491	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3444G>A	17.37:g.62022996C>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.V1148	ENST00000435607.1	37	c.3444	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom	ENSG00000007314		0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0	36	0	C	NM_000334		62022996	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	70.00	6	14	SNP	1.000	T	T	62022996	C	T	62022996	2	4	28	1	0	0	0	0	0	0	0	1	13965	581	21	3		3	SCN4A	17	62022996	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	54444820	62022996	19172214	98	7075											
FAM20A	54757	genome.wustl.edu	37	chr17	66537011	66537011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcaagaagtcgaagatggCcatgtcgatgacattgagga	14	9	12	6	2	1	4	1	2	0	2	3	7	1	5	1	2	0	0	1	2	4	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:66537011C>T	ENST00000592554.1	-	8	1920	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	AC079210.1_ENST00000600820.1_5'Flank|PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	400					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TCGAAGATGGCCATGTCGATG	0.557																																																	0													131	107	115					17																	66537011		2203	4300	6503	SO:0001583	missense	0			AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.1198G>A	17.37:g.66537011C>T	ENSP00000468308:p.Ala400Thr		B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	pfam_DUF1193	p.A400T	ENST00000592554.1	37	c.1198	CCDS11679.1	17	.	.	.	.	.	.	.	.	.	.	C	16.37	3.103417	0.56291	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.65	5.65	0.86999	.	0.195633	0.56097	N	0.000039	T	0.72439	0.3460	L	0.52573	1.65	0.54753	D	0.999988	D;D	0.63046	0.992;0.984	P;P	0.61070	0.883;0.698	T	0.66308	-0.5956	9	0.24483	T	0.36	-26.8465	19.7279	0.96172	0.0:1.0:0.0:0.0	.	400;262	Q96MK3;B7Z4Y3	FA20A_HUMAN;.	T	400	.	ENSP00000226094:A400T	A	-	1	0	FAM20A	64048606	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.887000	0.48586	2.659000	0.90383	0.561000	0.74099	GCC	FAM20A	-	pfam_DUF1193	ENSG00000108950		0.557	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20A	HGNC	protein_coding	OTTHUMT00000450029.2		0	45	0	C	NM_017565		66537011	-1			no_errors	ENST00000592554	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	66537011	C	T	66537011	3	4	28	1	0	0	0	0	1	0	0	0	5556	739	26	3	443	3	FAM20A	17	66537011	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	4514015	66537011	14658199	99	7076											
CASKIN2	57513	genome.wustl.edu	37	chr17	73502696	73502696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccattcttggcagcCaagtgcaggggcgtggtgta	6	10	16	9	1	1	0	0	0	1	0	1	0	1	0	2	5	2	3	2	5	2	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr17:73502696C>T	ENST00000321617.3	-	7	1171	c.585G>A	c.(583-585)ttG>ttA	p.L195L	CASKIN2_ENST00000581870.1_Silent_p.L195L|CASKIN2_ENST00000433559.2_Silent_p.L113L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	195						cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTTGGCAGCCAAGTGCAGGG	0.612																																																	0													111	100	104					17																	73502696		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.585G>A	17.37:g.73502696C>T			B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.L195	ENST00000321617.3	37	c.585	CCDS11723.1	17																																																																																			CASKIN2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000177303		0.612	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1		0	37	0	C	NM_020753		73502696	-1			no_errors	ENST00000321617	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T	T	73502696	C	T	73502696	2	4	28	1	0	0	0	0	0	0	0	1	2674	593	21	3		3	CASKIN2	17	73502696	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	6965685	73502696	7692514	100	7077											
ZFP161	7541	genome.wustl.edu	37	chr18	5291775	5291775	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgatttattttaaggcaAtacttacttttggactgacc	10	15	9	7	1	0	1	0	1	0	0	0	3	0	2	1	3	2	1	1	3	5	8			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr18:5291775A>C	ENST00000357006.4	-	4	770	c.432T>G	c.(430-432)taT>taG	p.Y144*	ZBTB14_ENST00000400143.3_Nonsense_Mutation_p.Y144*	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	144					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)										TTTTAAGGCAATACTTACTTT	0.453																																																	0													136	136	136					18																	5291775		2203	4300	6503	SO:0001587	stop_gained	0			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12860	protein-coding gene	gene with protein product		602126	"zinc finger protein 161 homolog (mouse)", "zinc finger protein 161", "ZFP161 zinc finger protein"	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.432T>G	18.37:g.5291775A>C	ENSP00000349503:p.Tyr144*		O00403|Q2TB80	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y144*	ENST00000357006.4	37	c.432	CCDS11837.1	18	.	.	.	.	.	.	.	.	.	.	A	35	5.421148	0.96111	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	.	.	.	6.07	-3.13	0.05266	.	0.180079	0.38164	N	0.001790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-27.3331	15.6541	0.77121	0.2818:0.0:0.7182:0.0	.	.	.	.	X	144	.	ENSP00000349503:Y144X	Y	-	3	2	ZFP161	5281775	0.983000	0.35010	0.977000	0.42913	0.947000	0.59692	0.155000	0.16362	-0.558000	0.06118	-0.274000	0.10170	TAT	ZBTB14	-	NULL	ENSG00000198081		0.453	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB14	HGNC	protein_coding	OTTHUMT00000254425.1	-	0	21	0	A	NM_003409		5291775	-1	tier1	-	no_errors	ENST00000357006	ensembl	human	known	74_37	nonsense	20.00	24	6	SNP	0.993	C	C	5291775	A	C	5291775	4	2	28	1	0	0	0	0	0	1	0	0	17688	108	4	4	921	4	ZFP161	18	5291775	Nonsense_Mutation	SNP	A	TCGA-IG-A625-01A-11D-A31U-09		5291775	72785473	101	7078											
ZBTB7A	51341	genome.wustl.edu	37	chr19	4054661	4054661	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccaggtcatcatcggaCgccccaaaggcggaccacgg	10	4	12	15	4	2	0	2	0	0	0	4	2	3	2	4	5	0	1	4	5	1	0			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:4054661C>T	ENST00000322357.4	-	2	848	c.570G>A	c.(568-570)gcG>gcA	p.A190A	ZBTB7A_ENST00000601588.1_Silent_p.A190A	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	190	Ala-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCGGACGCCCCAAAGG	0.701																																																	0													9	11	11					19																	4054661		2155	4209	6364	SO:0001819	synonymous_variant	0			AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18078	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein", "lymphoma related factor"	605878	"zinc finger and BTB domain containing 7"	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.570G>A	19.37:g.4054661C>T			D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A190	ENST00000322357.4	37	c.570	CCDS12119.1	19																																																																																			ZBTB7A	-	NULL	ENSG00000178951		0.701	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7A	HGNC	protein_coding	OTTHUMT00000457621.2	-	0	169	0	C	NM_015898		4054661	-1	tier1	-	no_errors	ENST00000322357	ensembl	human	known	74_37	silent	40.20	61	41	SNP	0.000	T	T	4054661	C	T	4054661	2	4	28	1	0	0	0	0	0	0	0	1	17601	523	19	1		1	ZBTB7A	19	4054661	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09		4054661	55074322	102	7079											
MYO1F	4542	genome.wustl.edu	37	chr19	8587367	8587367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaccatgtgtccgaggCtggggcttgggtcggcccac	4	8	17	12	2	0	0	0	0	0	0	2	2	1	1	3	6	0	2	3	6	0	1	rs187667984	byFrequency	TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:8587367C>G	ENST00000338257.8	-	27	3381	c.3114G>C	c.(3112-3114)caG>caC	p.Q1038H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1038					defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGTCCGAGGCTGGGGCTTGG	0.627																																																	0													37	40	39					19																	8587367		2011	4179	6190	SO:0001583	missense	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3114G>C	19.37:g.8587367C>G	ENSP00000344871:p.Gln1038His		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.Q1038H	ENST00000338257.8	37	c.3114	CCDS42494.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.79|13.79	2.340877|2.340877	0.41498|0.41498	.|.	.|.	ENSG00000142347|ENSG00000142347	ENST00000338257|ENST00000305795	T|.	0.29917|.	1.55|.	5.5|5.5	0.83|0.83	0.18854|0.18854	Src homology-3 domain (1);|.	.|1.195310	.|0.06248	.|N	.|0.691592	T|T	0.63379|0.63379	0.2506|0.2506	M|M	0.73962|0.73962	2.25|2.25	0.36583|0.36583	D|D	0.873645|0.873645	P|.	0.35944|.	0.529|.	B|.	0.38755|.	0.281|.	T|T	0.55179|0.55179	-0.8181|-0.8181	9|7	0.56958|0.22109	D|T	0.05|0.4	.|.	7.9515|7.9515	0.30017|0.30017	0.0:0.5486:0.0:0.4514|0.0:0.5486:0.0:0.4514	.|.	1038|.	O00160|.	MYO1F_HUMAN|.	H|T	1038|1082	ENSP00000344871:Q1038H|.	ENSP00000344871:Q1038H|ENSP00000304899:S1082T	Q|S	-|-	3|2	2|0	MYO1F|MYO1F	8493367|8493367	0.262000|0.262000	0.24073|0.24073	0.995000|0.995000	0.50966|0.50966	0.676000|0.676000	0.39594|0.39594	-0.321000|-0.321000	0.08018|0.08018	-0.030000|-0.030000	0.13804|0.13804	0.650000|0.650000	0.86243|0.86243	CAG|AGC	MYO1F	-	superfamily_SH3_domain	ENSG00000142347		0.627	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	-	0	46	0	C			8587367	-1	tier1	-	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	G	G	8587367	C	G	8587367	3	3	28	1	0	0	0	0	1	0	0	0	10111	796	28	5	190	5	MYO1F	19	8587367	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	4532706	8587367	50541616	103	7080											
ZNF439	90594	genome.wustl.edu	37	chr19	11979137	11979137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtaagcaatgtgggaaagCcttcagatctgccccaaatc	12	9	10	10	0	2	1	1	0	1	1	3	2	2	2	3	1	3	2	3	1	4	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:11979137C>T	ENST00000304030.2	+	3	1453	c.1253C>T	c.(1252-1254)gCc>gTc	p.A418V	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Missense_Mutation_p.A282V	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGTGGGAAAGCCTTCAGATCT	0.453																																																	0													71	67	68					19																	11979137		2203	4300	6503	SO:0001583	missense	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1253C>T	19.37:g.11979137C>T	ENSP00000305077:p.Ala418Val		Q8IYZ7|Q96SU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A418V	ENST00000304030.2	37	c.1253	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	c	7.011	0.556745	0.13436	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.19105	2.17;2.17	0.575	0.575	0.17374	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12475	0.0303	N	0.22421	0.69	0.20563	N	0.999886	B	0.21606	0.058	B	0.28784	0.094	T	0.32402	-0.9908	9	0.48119	T	0.1	.	2.3296	0.04232	0.0:0.4028:0.3368:0.2604	.	418	Q8NDP4	ZN439_HUMAN	V	282;418	ENSP00000395632:A282V;ENSP00000305077:A418V	ENSP00000305077:A418V	A	+	2	0	ZNF439	11840137	0.000000	0.05858	0.023000	0.16930	0.048000	0.14542	-0.798000	0.04565	0.577000	0.29470	0.194000	0.17425	GCC	ZNF439	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171291		0.453	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1	-	0	60	0	C			11979137	1	tier1	-	no_errors	ENST00000304030	ensembl	human	known	74_37	missense	7.46	62	5	SNP	0.535	T	T	11979137	C	T	11979137	3	4	28	1	0	0	0	0	1	0	0	0	17959	739	26	3	1263	3	ZNF439	19	11979137	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	3391770	11979137	47149846	104	7081											
ZNF99	7652	genome.wustl.edu	37	chr19	22939048	22939048	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatcttatgtttagtaaGggctgaaagatggttaaaag	15	14	10	2	0	1	2	0	1	1	1	1	2	1	2	0	2	0	4	0	2	8	6			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:22939048G>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.L1025I	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTAGTAAGGGCTGAAAGA	0.353																																																	0													50	70	64					19																	22939048		1992	4265	6257	SO:0001628	intergenic_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939048G>T			M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L1025I	ENST00000596209.1	37	c.3073	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	10.41	1.343550	0.24339	.	.	ENSG00000213973	ENST00000397104	T	0.74947	-0.89	1.04	-0.883	0.10600	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79281	0.4419	.	.	.	0.09310	N	1	D	0.55172	0.97	D	0.63283	0.913	T	0.67217	-0.5726	8	0.72032	D	0.01	.	4.9312	0.13917	0.3923:0.0:0.6077:0.0	.	1024	A8MXY4	ZNF99_HUMAN	I	1025	ENSP00000380293:L1025I	ENSP00000380293:L1025I	L	-	1	0	ZNF99	22730888	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.565000	0.05929	-0.439000	0.07222	-0.606000	0.04082	CTT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1		0	29	0	G	XM_065124		22939048	-1			no_errors	ENST00000397104	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.021	T	T	22939048	G	T	22939048	1	4	28	0	1	0	0	0	0	0	0	0	18252	1000	35	3		3	ZNF99	19	22939048	IGR	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	10959911	22939048	36189935	105	7082											
GGN	199720	genome.wustl.edu	37	chr19	38876616	38876616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcctggaggccccGggcgcatgggctcgccattg	4	6	16	15	3	0	0	0	0	0	0	1	1	0	1	5	5	1	3	5	5	0	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:38876616G>T	ENST00000334928.6	-	3	1418	c.1286C>A	c.(1285-1287)cCg>cAg	p.P429Q	SPRED3_ENST00000587013.1_5'Flank|GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	429	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)		p.P429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGCCCCGGGCGCATGGG	0.721																																																	1	Substitution - Missense(1)	lung(1)											7	9	9					19																	38876616		2167	4235	6402	SO:0001583	missense	0			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1286C>A	19.37:g.38876616G>T	ENSP00000334940:p.Pro429Gln		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.P429Q	ENST00000334928.6	37	c.1286	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650879	0.29336	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.5	-0.0477	0.13842	.	0.196203	0.25192	N	0.032460	T	0.34106	0.0886	L	0.29908	0.895	0.09310	N	1	D;D	0.57571	0.98;0.98	P;P	0.57009	0.811;0.811	T	0.12889	-1.0530	9	0.72032	D	0.01	-1.7164	5.9789	0.19395	0.3761:0.0:0.6239:0.0	.	346;429	Q86UU5-2;Q86UU5	.;GGN_HUMAN	Q	429	.	ENSP00000334940:P429Q	P	-	2	0	GGN	43568456	0.042000	0.20092	0.049000	0.19019	0.155000	0.21991	1.842000	0.39250	0.183000	0.20059	0.462000	0.41574	CCG	GGN	-	NULL	ENSG00000179168		0.721	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1		0	16	0	G	NM_152657		38876616	-1			no_errors	ENST00000334928	ensembl	human	known	74_37	missense	18.18	9	2	SNP	0.003	T	T	38876616	G	T	38876616	3	4	28	1	0	0	0	0	1	0	0	0	6384	1116	39	2	680	2	GGN	19	38876616	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	15937568	38876616	20252367	106	7083											
AP2A1	160	genome.wustl.edu	37	chr19	50303389	50303389	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacgtccagggctatgcCgccaagaccgtctttgaggt	8	9	13	11	3	1	3	0	2	1	1	2	4	2	3	4	2	1	1	4	2	2	2	rs368042642		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:50303389C>A	ENST00000359032.5	+	11	1437	c.1437C>A	c.(1435-1437)gcC>gcA	p.A479A	AP2A1_ENST00000354293.5_Silent_p.A479A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		AGGGCTATGCCGCCAAGACCG	0.617																																																	0													69	77	74					19																	50303389		2151	4242	6393	SO:0001819	synonymous_variant	0			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1437C>A	19.37:g.50303389C>A			Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.A479	ENST00000359032.5	37	c.1437	CCDS46148.1	19																																																																																			AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000196961		0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1		0	42	0	C			50303389	1			no_errors	ENST00000354293	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.015	A	A	50303389	C	A	50303389	2	1	28	1	0	0	0	0	0	0	0	1	739	639	23	2		2	AP2A1	19	50303389	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	11426773	50303389	8825594	107	7084											
KLK2	3817	genome.wustl.edu	37	chr19	51379818	51379818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacagcttcccacacccGctctacaatatgagccttct	10	9	5	17	1	2	1	0	1	2	0	3	1	3	1	4	0	4	2	4	0	3	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:51379818G>A	ENST00000325321.3	+	3	522	c.297G>A	c.(295-297)ccG>ccA	p.P99P	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Silent_p.P99P|AC037199.1_ENST00000594218.1_5'Flank			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	99	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TCCCACACCCGCTCTACAATA	0.567			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													64	56	59					19																	51379818		2203	4300	6503	SO:0001819	synonymous_variant	0			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"Kallikreins"	6363	protein-coding gene	gene with protein product		147960	"kallikrein 2, prostatic"			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.297G>A	19.37:g.51379818G>A			B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	NULL	p.R46H	ENST00000325321.3	37	c.137	CCDS12808.1	19																																																																																			KLK2	-	NULL	ENSG00000167751		0.567	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	-	0	21	0	G	NM_005551.3		51379818	1	tier1	-	no_errors	ENST00000595316	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.002	A	A	51379818	G	A	51379818	2	1	28	1	0	0	0	0	0	0	0	1	8431	1074	38	1		1	KLK2	19	51379818	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	1076429	51379818	7749165	108	7085											
VN1R1	57191	genome.wustl.edu	37	chr19	57967427	57967427	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttaatggcttggaatccaTtgagaaggcagatggtgctg	10	11	14	6	0	0	2	0	1	0	2	1	4	1	3	1	4	1	4	1	4	3	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr19:57967427T>A	ENST00000321039.3	-	1	427	c.428A>T	c.(427-429)aAt>aTt	p.N143I	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	143					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TTGGAATCCATTGAGAAGGCA	0.433																																																	0													98	91	93					19																	57967427		2203	4300	6503	SO:0001583	missense	0			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	13548	protein-coding gene	gene with protein product		605234	"vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.428A>T	19.37:g.57967427T>A	ENSP00000322339:p.Asn143Ile		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.N143I	ENST00000321039.3	37	c.428	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504375	0.44558	.	.	ENSG00000178201	ENST00000321039	T	0.37058	1.22	4.24	-8.47	0.00939	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45074	0.1324	L	0.40543	1.245	0.09310	N	1	D	0.65815	0.995	D	0.66497	0.944	T	0.65619	-0.6124	9	0.87932	D	0	.	15.9663	0.79974	0.0:0.782:0.0986:0.1194	.	143	Q9GZP7	VN1R1_HUMAN	I	143	ENSP00000322339:N143I	ENSP00000322339:N143I	N	-	2	0	VN1R1	62659239	0.643000	0.27269	0.000000	0.03702	0.006000	0.05464	0.046000	0.14035	-2.620000	0.00440	-0.262000	0.10625	AAT	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000178201		0.433	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	-	0	33	0	T	NM_020633		57967427	-1	tier1	-	no_errors	ENST00000321039	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.000	A	A	57967427	T	A	57967427	3	1	28	1	0	0	0	0	1	0	0	0	17227	1493	52	5	637	5	VN1R1	19	57967427	Missense_Mutation	SNP	T	TCGA-IG-A625-01A-11D-A31U-09	6587609	57967427	1161556	109	7086											
ITPA	3704	genome.wustl.edu	37	chr20	3194687	3194687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcttcaatgcccttggaggGctccccggcccctacatgtg	5	10	11	15	1	1	0	1	0	0	0	2	1	2	1	5	3	3	2	5	3	2	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr20:3194687G>A	ENST00000380113.3	+	4	438	c.246G>A	c.(244-246)ggG>ggA	p.G82G	ITPA_ENST00000455664.2_Silent_p.G65G|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Silent_p.G41G	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						CCCTTGGAGGGCTCCCCGGCC	0.562																																																	0													141	111	121					20																	3194687		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.246G>A	20.37:g.3194687G>A				Silent	SNP	pfam_Ham1p-like,tigrfam_Ham1p-like	p.G82	ENST00000380113.3	37	c.246	CCDS13051.1	20																																																																																			ITPA	-	pfam_Ham1p-like,tigrfam_Ham1p-like	ENSG00000125877		0.562	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPA	HGNC	protein_coding	OTTHUMT00000077719.2	-	0	82	0	G			3194687	1	tier1	-	no_errors	ENST00000380113	ensembl	human	known	74_37	silent	56.45	26	35	SNP	0.694	A	A	3194687	G	A	3194687	2	1	28	1	0	0	0	0	0	0	0	1	7942	1190	42	3		3	ITPA	20	3194687	Silent	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		3194687	59830833	110	7087											
FOXS1	2307	genome.wustl.edu	37	chr20	30432392	30432392	+	Frame_Shift_Del	DEL	G	G	-																															cctggcgtccggtataggcaGggggtcagccccaatgggta																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr20:30432392delG	ENST00000375978.3	-	1	1028	c.954delC	c.(952-954)cccfs	p.P318fs		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	318					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GGTATAGGCAGGGGGTCAGCC	0.647																																																	0													46	47	47					20																	30432392		2202	4300	6502	SO:0001589	frameshift_variant	0			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.954delC	20.37:g.30432392delG	ENSP00000365145:p.Pro318fs		Q96D28	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.C319fs	ENST00000375978.3	37	c.954	CCDS13192.1	20																																																																																			FOXS1	-	NULL	ENSG00000179772		0.647	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	HGNC	protein_coding	OTTHUMT00000078560.2		0	86	0	G	NM_004118		30432392	-1	tier1		no_errors	ENST00000375978	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.998	-	-	30432392	G	-	30432392	7	5	28	1	0	1	0	1	0	0	0	0	6059	987	35	0	42	0	FOXS1	20	30432392	Frame_Shift_Del	DEL	G	TCGA-IG-A625-01A-11D-A31U-09	27237705	30432392	32593128	111	7088											
NCOA3	8202	genome.wustl.edu	37	chr20	46277770	46277770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgaatcagagccgacagGcacttgaattgaaaatggaa	15	10	10	6	1	1	4	1	3	0	1	1	6	1	5	1	2	1	1	1	2	5	4	rs144021243		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr20:46277770G>A	ENST00000371998.3	+	19	3759	c.3568G>A	c.(3568-3570)Gca>Aca	p.A1190T	NCOA3_ENST00000372004.3_Missense_Mutation_p.A1190T|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1185T|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1120T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1190	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAGCCGACAGGCACTTGAATT	0.517																																																	0													83	75	77					20																	46277770		2203	4300	6503	SO:0001583	missense	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3568G>A	20.37:g.46277770G>A	ENSP00000361066:p.Ala1190Thr		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.A1190T	ENST00000371998.3	37	c.3568	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474692	0.63737	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.75	4.8	0.61643	.	0.072930	0.56097	D	0.000026	T	0.45696	0.1355	M	0.75264	2.295	0.47547	D	0.999452	B;B;B;B;B;B	0.24618	0.038;0.107;0.017;0.017;0.03;0.038	B;B;B;B;B;B	0.23852	0.025;0.034;0.022;0.022;0.049;0.025	T	0.36915	-0.9728	10	0.22706	T	0.39	-11.6682	9.9725	0.41763	0.1569:0.0:0.8431:0.0	.	1190;1185;1194;1190;1190;1190	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	T	1190;1120;1190;1190;1185	ENSP00000342123:A1120T;ENSP00000361073:A1190T;ENSP00000361066:A1190T;ENSP00000361065:A1185T	ENSP00000345671:A1190T	A	+	1	0	NCOA3	45711177	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.592000	0.46171	1.439000	0.47511	0.655000	0.94253	GCA	NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.517	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0	26	0	G	NM_006534		46277770	1			no_errors	ENST00000371998	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	46277770	G	A	46277770	3	1	28	1	0	0	0	0	1	0	0	0	10269	1203	42	3	3664	3	NCOA3	20	46277770	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	15845378	46277770	16747750	112	7089											
MCM3AP	8888	genome.wustl.edu	37	chr21	47703581	47703581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcctggtaaagatgCgctgcactttagcaattttg	8	13	11	9	2	0	1	0	0	0	1	0	1	0	1	1	1	5	5	1	1	4	5	rs139188881		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr21:47703581C>T	ENST00000397708.1	-	3	1645	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	YBEY_ENST00000329319.3_5'Flank|YBEY_ENST00000397692.1_5'Flank|YBEY_ENST00000397701.4_5'Flank|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R464H|YBEY_ENST00000397691.1_5'Flank|YBEY_ENST00000397694.1_5'Flank|YBEY_ENST00000339195.6_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	464	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GGTAAAGATGCGCTGCACTTT	0.463													C|||	1	0.000199681	0	0	5008	,	,		20180	0		0.001	False		,,,				2504	0																0													106	100	102					21																	47703581		2203	4300	6503	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1391G>A	21.37:g.47703581C>T	ENSP00000380820:p.Arg464His		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R464H	ENST00000397708.1	37	c.1391	CCDS13734.1	21	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.01	3.744671	0.69418	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.04654	3.58;3.58	4.97	4.07	0.47477	Nucleotide-binding, alpha-beta plait (1);	0.054333	0.64402	D	0.000001	T	0.17365	0.0417	M	0.66939	2.045	0.41003	D	0.984946	D	0.89917	1.0	D	0.69824	0.966	T	0.00398	-1.1764	10	0.72032	D	0.01	-18.0077	12.7105	0.57086	0.0:0.9204:0.0:0.0796	.	464	O60318	MCM3A_HUMAN	H	464	ENSP00000380820:R464H;ENSP00000291688:R464H	ENSP00000291688:R464H	R	-	2	0	MCM3AP	46528009	0.985000	0.35326	0.932000	0.37286	0.806000	0.45545	2.626000	0.46460	2.284000	0.76573	0.563000	0.77884	CGC	MCM3AP	-	NULL	ENSG00000160294		0.463	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1		0	38	0	C	NM_003906		47703581	-1			no_errors	ENST00000291688	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.980	T	T	47703581	C	T	47703581	3	4	28	1	0	0	0	0	1	0	0	0	9426	768	27	1	4659	1	MCM3AP	21	47703581	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09		47703581	426314	113	7090											
DGCR8	54487	genome.wustl.edu	37	chr22	20094812	20094812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtaagaacaagagagttgGaaagcagttagcctcacaga	17	6	12	6	0	1	3	1	0	0	3	1	5	1	4	1	2	3	4	1	2	5	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:20094812G>T	ENST00000351989.3	+	12	2444	c.2015G>T	c.(2014-2016)gGa>gTa	p.G672V	DGCR8_ENST00000383024.2_Missense_Mutation_p.G639V|DGCR8_ENST00000407755.1_Missense_Mutation_p.G639V	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	672	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AAGAGAGTTGGAAAGCAGTTA	0.552																																																	0													111	97	102					22																	20094812		2203	4300	6503	SO:0001583	missense	0			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.2015G>T	22.37:g.20094812G>T	ENSP00000263209:p.Gly672Val		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.G672V	ENST00000351989.3	37	c.2015	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753932	0.89843	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.76448	-1.02;-1.02;-1.02	5.39	5.39	0.77823	Double-stranded RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87969	0.2735	10	0.87932	D	0	-13.955	17.9108	0.88934	0.0:0.0:1.0:0.0	.	639;672	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	V	672;639;639	ENSP00000263209:G672V;ENSP00000372488:G639V;ENSP00000384726:G639V	ENSP00000263209:G672V	G	+	2	0	DGCR8	18474812	1.000000	0.71417	0.945000	0.38365	0.964000	0.63967	9.112000	0.94314	2.536000	0.85505	0.491000	0.48974	GGA	DGCR8	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	ENSG00000128191		0.552	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1		0	67	0	G			20094812	1			no_errors	ENST00000351989	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	20094812	G	T	20094812	3	4	28	1	0	0	0	0	1	0	0	0	4478	1174	41	3	2057	3	DGCR8	22	20094812	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09		20094812	31209754	114	7091											
RAB36	9609	genome.wustl.edu	37	chr22	23503091	23503091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacgtgaaggcattcttcagCcgcgtagccgccctggcatt	8	9	11	13	4	2	1	1	1	1	0	2	1	2	1	3	2	3	3	3	2	3	4			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:23503091C>T	ENST00000263116.2	+	10	883	c.843C>T	c.(841-843)agC>agT	p.S281S	RAB36_ENST00000341989.4_Silent_p.S259S	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	281					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CATTCTTCAGCCGCGTAGCCG	0.602																																																	0													75	65	69					22																	23503091		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.843C>T	22.37:g.23503091C>T			Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S281	ENST00000263116.2	37	c.843	CCDS13805.1	22																																																																																			RAB36	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000100228		0.602	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1		0	38	0	C	NM_004914		23503091	1			no_errors	ENST00000263116	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	T	T	23503091	C	T	23503091	2	4	28	1	0	0	0	0	0	0	0	1	12971	738	26	3		3	RAB36	22	23503091	Silent	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	3408279	23503091	27801475	115	7092											
HMGXB4	10042	genome.wustl.edu	37	chr22	35661543	35661544	+	Frame_Shift_Ins	INS	-	-	A																															ccacacagatgggcatagtgINSaaaaaaaaaagaaaaaagaa																								rs76572304		TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:35661543_35661544insA	ENST00000216106.5	+	5	1290_1291	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Ins_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGGCATAGTGAaaaaaaaaag	0.49																																																	0																																										SO:0001589	frameshift_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1172dupA	22.37:g.35661553_35661553dupA	ENSP00000216106:p.Glu388fs		O75672|O75673|Q9UMT5	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.K392fs	ENST00000216106.5	37	c.1162_1163	CCDS33641.1	22																																																																																			HMGXB4	-	superfamily_HMG_box_dom	ENSG00000100281		0.49	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2		0	11	0	-	NM_005487		35661544	1	tier1		no_errors	ENST00000216106	ensembl	human	known	74_37	frame_shift_ins	18.75	13	3	INS	1.000:1.000	A	A	35661544	-	A	35661543	7	5	28	1	0	1	1	0	0	0	0	0	7266	1291	45	0	1176	0	HMGXB4	22	35661543	Frame_Shift_Ins	INS	-	TCGA-IG-A625-01A-11D-A31U-09	12158452	35661543	15643023	116	7093											
MCHR1	2847	genome.wustl.edu	37	chr22	41077184	41077184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgatccaccagctcatggGcaatggggtgtggcactttg	8	10	13	10	0	1	1	1	1	0	0	2	1	2	1	2	4	1	3	2	4	1	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chr22:41077184G>A	ENST00000249016.4	+	2	1217	c.521G>A	c.(520-522)gGc>gAc	p.G174D	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	174					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCTCATGGGCAATGGGGTG	0.557																																																	0													168	156	160					22																	41077184		2203	4300	6503	SO:0001583	missense	0				CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"GPCR / Class A : MCH receptors"	4479	protein-coding gene	gene with protein product		601751	"G protein-coupled receptor 24"	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.521G>A	22.37:g.41077184G>A	ENSP00000249016:p.Gly174Asp		B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn	p.G174D	ENST00000249016.4	37	c.521	CCDS14004.1	22	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946885	0.73672	.	.	ENSG00000128285	ENST00000249016	T	0.72051	-0.62	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83594	0.5288	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84613	0.0679	10	0.59425	D	0.04	.	17.7257	0.88364	0.0:0.0:1.0:0.0	.	174	Q99705	MCHR1_HUMAN	D	174	ENSP00000249016:G174D	ENSP00000249016:G174D	G	+	2	0	MCHR1	39407130	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.958000	0.87877	2.601000	0.87937	0.563000	0.77884	GGC	MCHR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt	ENSG00000128285		0.557	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR1	HGNC	protein_coding	OTTHUMT00000317142.1	-	0	48	0	G	NM_005297		41077184	1	tier1	-	no_errors	ENST00000249016	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A	A	41077184	G	A	41077184	3	1	28	1	0	0	0	0	1	0	0	0	9420	1203	42	3	527	3	MCHR1	22	41077184	Missense_Mutation	SNP	G	TCGA-IG-A625-01A-11D-A31U-09	5415641	41077184	10227382	117	7094											
RS1	6247	genome.wustl.edu	37	chrX	18665389	18665389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catactgctccgggttagagCaggtgatctggtccggtgtg	6	11	15	9	2	1	2	0	1	1	1	3	2	3	2	2	4	3	3	2	4	2	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:18665389C>T	ENST00000379984.3	-	4	288	c.248G>A	c.(247-249)tGc>tAc	p.C83Y	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	83	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CGGGTTAGAGCAGGTGATCTG	0.522																																																	0													96	87	90					X																	18665389		2203	4300	6503	SO:0001583	missense	0			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.248G>A	X.37:g.18665389C>T	ENSP00000369320:p.Cys83Tyr		Q0QD39	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.C83Y	ENST00000379984.3	37	c.248	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715087	0.89112	.	.	ENSG00000102104	ENST00000379984	D	0.98914	-5.23	5.43	5.43	0.79202	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99914	1.1214	10	0.87932	D	0	.	18.3184	0.90229	0.0:1.0:0.0:0.0	.	83	O15537	XLRS1_HUMAN	Y	83	ENSP00000369320:C83Y	ENSP00000369320:C83Y	C	-	2	0	RS1	18575310	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.484000	0.81180	2.265000	0.75225	0.523000	0.50628	TGC	RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000102104		0.522	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1	-	0	44	0	C			18665389	-1	tier1	-	no_errors	ENST00000379984	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	18665389	C	T	18665389	3	4	28	1	0	0	0	0	1	0	0	0	13738	710	25	3	438	3	RS1	23	18665389	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09		18665389	136605171	118	7095											
KDM6A	7403	genome.wustl.edu	37	chrX	44941834	44941834	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctataggaagaaaatgaaaAaagaagtcatcataaagacc	22	7	7	5	0	3	4	2	1	1	3	3	5	3	5	1	1	0	0	1	1	11	3			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:44941834A>T	ENST00000377967.4	+	21	3199	c.3158A>T	c.(3157-3159)aAa>aTa	p.K1053I	KDM6A_ENST00000543216.1_Missense_Mutation_p.K974I|KDM6A_ENST00000536777.1_Missense_Mutation_p.K1008I|KDM6A_ENST00000382899.4_Missense_Mutation_p.K1060I	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1053	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAATGAAAAAAGAAGTCAT	0.313			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											89	83	85					X																	44941834		2203	4300	6503	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3158A>T	X.37:g.44941834A>T	ENSP00000367203:p.Lys1053Ile		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K1060I	ENST00000377967.4	37	c.3179	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	4.002740|4.002740	0.74932|0.74932	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.80393|.	-1.37;-1.37;-1.37;-1.37|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72550|0.72550	0.3474|0.3474	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	P;P;D;P;P|.	0.61080|.	0.952;0.729;0.989;0.836;0.929|.	P;P;D;B;P|.	0.64237|.	0.601;0.495;0.923;0.418;0.824|.	T|T	0.72969|0.72969	-0.4130|-0.4130	10|6	0.87932|.	D|.	0|.	-4.8223|-4.8223	13.7286|13.7286	0.62774|0.62774	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	692;1060;1008;1105;1053|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	I|N	750;1053;1008;1060;974|650;695	ENSP00000367203:K1053I;ENSP00000437405:K1008I;ENSP00000372355:K1060I;ENSP00000443078:K974I|.	ENSP00000334340:K750I|.	K|K	+|+	2|3	0|2	KDM6A|KDM6A	44826778|44826778	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.878000|0.878000	0.50629|0.50629	7.983000|7.983000	0.88140|0.88140	1.838000|1.838000	0.53458|0.53458	0.437000|0.437000	0.28790|0.28790	AAA|AAA	KDM6A	-	NULL	ENSG00000147050		0.313	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0	60	0	A	NM_021140		44941834	1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	missense	80.00	8	32	SNP	1.000	T	T	44941834	A	T	44941834	3	4	28	1	0	0	0	0	1	0	0	0	8164	14	1	5	3240	5	KDM6A	23	44941834	Missense_Mutation	SNP	A	TCGA-IG-A625-01A-11D-A31U-09	26276445	44941834	110328726	119	7096											
FAM199X	139231	genome.wustl.edu	37	chrX	103432909	103432909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggaaactctgcttcaaaCtccagtgccaacatgagtcg	11	10	9	11	1	2	1	1	1	1	0	4	2	3	2	2	1	5	2	2	1	3	2			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:103432909C>G	ENST00000493442.1	+	5	1084	c.918C>G	c.(916-918)aaC>aaG	p.N306K	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	306	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CTGCTTCAAACTCCAGTGCCA	0.532																																																	0													132	128	129					X																	103432909		2203	4300	6503	SO:0001583	missense	0			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.918C>G	X.37:g.103432909C>G	ENSP00000417581:p.Asn306Lys		Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.N306K	ENST00000493442.1	37	c.918	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	C	10.68	1.419585	0.25552	.	.	ENSG00000123575	ENST00000493442	T	0.43688	0.94	5.15	5.15	0.70609	.	0.090866	0.85682	D	0.000000	T	0.32556	0.0833	L	0.44542	1.39	0.47407	D	0.999416	B	0.31817	0.341	B	0.25140	0.058	T	0.10109	-1.0644	9	.	.	.	-14.9987	12.3835	0.55320	0.0:0.9132:0.0:0.0868	.	306	Q6PEV8	F199X_HUMAN	K	306	ENSP00000417581:N306K	.	N	+	3	2	FAM199X	103319565	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.840000	0.39230	2.270000	0.75569	0.506000	0.49869	AAC	FAM199X	-	NULL	ENSG00000123575		0.532	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	-	0	9	0	C	NM_207318		103432909	1	tier1	-	no_errors	ENST00000493442	ensembl	human	known	74_37	missense	70.59	5	12	SNP	1.000	G	G	103432909	C	G	103432909	3	3	28	1	0	0	0	0	1	0	0	0	5549	564	20	5	936	5	FAM199X	23	103432909	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	58491075	103432909	51837651	120	7097											
ANKRD58	347454	genome.wustl.edu	37	chrX	118893519	118893519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggacaccgcgggcagcCgggtggcgcaaatgcatagc	10	3	16	12	5	0	0	0	0	0	0	0	2	0	1	2	4	3	3	2	4	3	1			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:118893519C>T	ENST00000343905.3	+	1	944	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	297																	CGCGGGCAGCCGGGTGGCGCA	0.652																																																	0													14	18	17					X																	118893519		2125	4145	6270	SO:0001583	missense	0				CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.889C>T	X.37:g.118893519C>T	ENSP00000340975:p.Arg297Trp			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R297W	ENST00000343905.3	37	c.889	CCDS43984.1	X	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762922	0.49574	.	.	ENSG00000187808	ENST00000343905	T	0.14893	2.47	3.89	2.02	0.26589	.	.	.	.	.	T	0.13114	0.0318	L	0.36672	1.1	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.24333	-1.0163	9	0.72032	D	0.01	-3.1661	6.6898	0.23165	0.2021:0.6056:0.1923:0.0	.	297	A6NJG2	ANR58_HUMAN	W	297	ENSP00000340975:R297W	ENSP00000340975:R297W	R	+	1	2	ANKRD58	118777547	0.000000	0.05858	0.001000	0.08648	0.104000	0.19210	-0.141000	0.10327	0.248000	0.21435	0.436000	0.28706	CGG	SOWAHD	-	NULL	ENSG00000187808		0.652	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHD	HGNC	protein_coding	OTTHUMT00000356469.1	-	0	17	0	C	NM_001105576		118893519	1	tier1	-	no_errors	ENST00000343905	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.001	T	T	118893519	C	T	118893519	3	4	28	1	0	0	0	0	1	0	0	0	684	643	23	1	891	1	ANKRD58	23	118893519	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	15460610	118893519	36377041	121	7098											
MTM1	4534	genome.wustl.edu	37	chrX	149818273	149818273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcataatattcatgttatgCgggaatctttaaaaaaagtg	15	15	7	4	1	3	0	2	0	1	0	3	1	3	1	0	1	1	1	0	1	8	7			TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrX:149818273C>T	ENST00000370396.2	+	10	1006	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	MTM1_ENST00000413012.2_Missense_Mutation_p.R281W|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_Missense_Mutation_p.R223W|MTM1_ENST00000543350.1_Missense_Mutation_p.R203W	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	318	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCATGTTATGCGGGAATCTTT	0.348																																																	0													105	103	103					X																	149818273		2203	4297	6500	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7448	protein-coding gene	gene with protein product		300415	"myotubular myopathy 1"				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.952C>T	X.37:g.149818273C>T	ENSP00000359423:p.Arg318Trp		A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R318W	ENST00000370396.2	37	c.952	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656291	0.67586	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.83	3.87	0.44632	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	H	0.99425	4.56	0.49687	D	0.999814	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99133	1.0853	10	0.87932	D	0	.	14.5048	0.67746	0.4017:0.5983:0.0:0.0	.	281;318	B7Z491;Q13496	.;MTM1_HUMAN	W	318;223;203;281	ENSP00000359423:R318W;ENSP00000444015:R223W;ENSP00000439784:R203W;ENSP00000389157:R281W	ENSP00000359423:R318W	R	+	1	2	MTM1	149568931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.030000	0.30153	1.191000	0.43056	0.594000	0.82650	CGG	MTM1	-	NULL	ENSG00000171100		0.348	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	-	0	38	0	C	NM_000252		149818273	1	tier1	-	no_errors	ENST00000370396	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T	T	149818273	C	T	149818273	3	4	28	1	0	0	0	0	1	0	0	0	9975	759	27	1	986	1	MTM1	23	149818273	Missense_Mutation	SNP	C	TCGA-IG-A625-01A-11D-A31U-09	30924754	149818273	5452287	122	7099											
UTY	7404	genome.wustl.edu	37	chrY	15448217	15448218	+	Splice_Site	INS	-	-	A																															ctgacttttatgaagcccctINSaaaaaaaaaaaattgaaatt																										TCGA-IG-A625-01A-11D-A31U-09	TCGA-IG-A625-10A-01D-A31U-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff223fa-957e-4a24-a5b0-fd3f9efba397	e142853b-0d36-4f63-ba19-54b80ed65115	g.chrY:15448217_15448218insA	ENST00000331397.4	-	16	2778		c.e16-2		UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000540140.1_Splice_Site|UTY_ENST00000362096.4_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													T	2	0.00162206	0	0.0029	1233	,	,		21976	0.002		0	False		,,,				1233	0				Colon(103;1740 2135 40732 45171)												0																																										SO:0001630	splice_region_variant	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1771-2->T	Y.37:g.15448228_15448228dupA			A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Splice_Site	INS	-	e17-2	ENST00000331397.4	37	c.1906-3_1906-2	CCDS14783.1	Y																																																																																			UTY	-	-	ENSG00000183878		0.361	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1		0	13	0	0	NM_182660	Intron	15448218	-1			no_errors	ENST00000382896	ensembl	human	known	74_37	splice_site_ins	25.00	6	2	INS	0.999:0.923	A	A	15448218	-	A	15448217	8	5	28	1	0	1	1	0	0	0	1	0	17156	1536	53	0	2589	0	UTY	24	15448217	Splice_Site	INS	-	TCGA-IG-A625-01A-11D-A31U-09		15448217	43925349	123	7100											
EPHA2	1969	genome.wustl.edu	37	chr1	16475134	16475134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggagagcagcgccacacAggcaccgatatcctggaagg	12	3	14	12	3	0	1	0	0	0	1	1	5	1	2	3	4	2	2	3	4	2	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:16475134A>G	ENST00000358432.5	-	3	716	c.562T>C	c.(562-564)Tgt>Cgt	p.C188R	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	188	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AGCGCCACACAGGCACCGATA	0.647																																																	0													63	60	61					1																	16475134		2203	4300	6503	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.562T>C	1.37:g.16475134A>G	ENSP00000351209:p.Cys188Arg		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.C188R	ENST00000358432.5	37	c.562	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964594	0.74131	.	.	ENSG00000142627	ENST00000358432	T	0.68624	-0.34	5.14	5.14	0.70334	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000011	D	0.84999	0.5597	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.88451	0.3049	10	0.87932	D	0	.	12.8998	0.58119	1.0:0.0:0.0:0.0	.	188;188	B5A968;P29317	.;EPHA2_HUMAN	R	188	ENSP00000351209:C188R	ENSP00000351209:C188R	C	-	1	0	EPHA2	16347721	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.319000	0.96338	1.937000	0.56155	0.459000	0.35465	TGT	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000142627		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1		0	42	0	A	NM_004431		16475134	-1			no_errors	ENST00000358432	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	G	G	16475134	A	G	16475134	3	3	29	1	0	0	0	0	1	0	0	0	5183	188	7	4	2428	4	EPHA2	1	16475134	Missense_Mutation	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09		16475134	232775487	1	7101											
C1orf135	79000	genome.wustl.edu	37	chr1	26161544	26161544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaaagagcaaatcaggCttcagattttgagttggccc	11	11	12	7	0	2	3	2	1	0	2	2	3	2	3	1	3	1	4	1	3	3	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:26161544C>T	ENST00000374298.3	-	3	1068	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	RP1-317E23.7_ENST00000606617.1_RNA|AUNIP_ENST00000538789.1_Silent_p.K338K|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	338	Interaction with AURKA.				spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											GCAAATCAGGCTTCAGATTTT	0.413																																																	0													211	226	221					1																	26161544		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.1014G>A	1.37:g.26161544C>T			C9EI59|Q53F70	Silent	SNP	NULL	p.K338	ENST00000374298.3	37	c.1014	CCDS266.1	1																																																																																			AUNIP	-	NULL	ENSG00000127423		0.413	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	-	0	48	0	C	NM_024037		26161544	-1	tier1	-	no_errors	ENST00000538789	ensembl	human	known	74_37	silent	46.51	23	20	SNP	0.005	T	T	26161544	C	T	26161544	2	4	29	1	0	0	0	0	0	0	0	1	2006	796	28	3		3	C1orf135	1	26161544	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	9686410	26161544	223089077	2	7102											
FHL3	2275	genome.wustl.edu	37	chr1	38464974	38464974	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcactcagcacaggtgttGgcaaaggtattgtcatagca	11	10	12	8	0	2	0	2	0	0	0	2	0	2	0	0	4	2	6	0	4	3	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:38464974G>T	ENST00000373016.3	-	2	279	c.111C>A	c.(109-111)gcC>gcA	p.A37A	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	37					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CACAGGTGTTGGCAAAGGTAT	0.572																																																	0													127	107	114					1																	38464974		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.111C>A	1.37:g.38464974G>T			D3DPT6|Q6I9T0|Q9BVA2	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A37	ENST00000373016.3	37	c.111	CCDS30678.1	1																																																																																			FHL3	-	NULL	ENSG00000183386		0.572	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL3	HGNC	protein_coding	OTTHUMT00000012958.1	-	0	40	0	G	NM_004468		38464974	-1	tier1	-	no_errors	ENST00000373016	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	38464974	G	T	38464974	2	4	29	1	0	0	0	0	0	0	0	1	5902	1335	47	3		3	FHL3	1	38464974	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	12303430	38464974	210785647	3	7103											
TOE1	114034	genome.wustl.edu	37	chr1	45809288	45809288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatatttgagtggcaaagctGtacccctcacagtggccaag	11	10	10	10	0	1	1	1	1	0	0	1	1	1	1	3	2	2	3	3	2	5	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:45809288G>C	ENST00000372090.5	+	8	2030	c.1447G>C	c.(1447-1449)Gta>Cta	p.V483L	TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.V403L|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	483						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGCAAAGCTGTACCCCTCAC	0.542																																																	0													67	65	66					1																	45809288		2203	4300	6503	SO:0001583	missense	0				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1447G>C	1.37:g.45809288G>C	ENSP00000361162:p.Val483Leu		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom	p.V483L	ENST00000372090.5	37	c.1447	CCDS521.1	1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862334	0.51482	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.32515	1.46;1.45	6.17	5.26	0.73747	.	0.111018	0.64402	D	0.000009	T	0.33760	0.0874	L	0.56769	1.78	0.58432	D	0.99999	P;P	0.41159	0.74;0.74	B;B	0.39904	0.313;0.212	T	0.12941	-1.0528	10	0.62326	D	0.03	-11.7773	15.01	0.71542	0.0673:0.0:0.9327:0.0	.	403;483	B4DEM6;Q96GM8	.;TOE1_HUMAN	L	483;403	ENSP00000361162:V483L;ENSP00000438900:V403L	ENSP00000361162:V483L	V	+	1	0	TOE1	45581875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.798000	0.69095	2.941000	0.99782	0.655000	0.94253	GTA	TOE1	-	NULL	ENSG00000132773		0.542	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	HGNC	protein_coding	OTTHUMT00000020517.1	-	0	39	0	G	NM_025077		45809288	1	tier1	-	no_errors	ENST00000372090	ensembl	human	known	74_37	missense	38.10	26	16	SNP	1.000	C	C	45809288	G	C	45809288	3	2	29	1	0	0	0	0	1	0	0	0	16396	1377	48	5	1477	5	TOE1	1	45809288	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	7344314	45809288	203441333	4	7104											
DAB1	1600	genome.wustl.edu	37	chr1	57489270	57489270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactcgctggaagggtctGagatgaagatgggataaagg	12	8	16	5	1	1	3	0	2	1	2	2	6	1	5	0	4	1	2	0	4	4	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:57489270G>T	ENST00000371231.1	-	12	962	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	DAB1_ENST00000414851.2_Missense_Mutation_p.Q259K|DAB1_ENST00000371236.2_Missense_Mutation_p.Q277K|DAB1_ENST00000420954.2_Missense_Mutation_p.Q275K|DAB1_ENST00000371234.4_Missense_Mutation_p.Q277K|DAB1_ENST00000439789.2_Missense_Mutation_p.Q191K|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	310					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGAAGGGTCTGAGATGAAGAT	0.532																																																	0													131	121	124					1																	57489270		2203	4300	6503	SO:0001583	missense	0			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.928C>A	1.37:g.57489270G>T	ENSP00000360275:p.Gln310Lys		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.Q310K	ENST00000371231.1	37	c.928		1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876602	0.91664	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232	T;T;T;T;T;T;T	0.50548	0.81;0.81;0.75;0.8;1.8;0.79;0.74	5.49	5.49	0.81192	.	0.363023	0.32785	N	0.005656	T	0.61148	0.2324	M	0.64404	1.975	0.58432	D	0.999999	P;D;D;P;D	0.61080	0.841;0.966;0.989;0.949;0.989	B;P;P;P;P	0.57776	0.441;0.733;0.763;0.549;0.827	T	0.51841	-0.8654	10	0.17832	T	0.49	-12.8907	19.1647	0.93551	0.0:0.0:1.0:0.0	.	259;310;277;191;275	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	K	277;277;277;275;259;191;310;191	ENSP00000360280:Q277K;ENSP00000360278:Q277K;ENSP00000395296:Q275K;ENSP00000387581:Q259K;ENSP00000409328:Q191K;ENSP00000360275:Q310K;ENSP00000360276:Q191K	ENSP00000360275:Q310K	Q	-	1	0	DAB1	57261858	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.993000	0.88291	2.857000	0.98124	0.650000	0.86243	CAG	DAB1	-	NULL	ENSG00000173406		0.532	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1		0	47	0	G	NM_021080		57489270	-1			no_errors	ENST00000371231	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	57489270	G	T	57489270	3	4	29	1	0	0	0	0	1	0	0	0	4226	1299	45	3	854	3	DAB1	1	57489270	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	11679982	57489270	191761351	5	7105											
USP1	7398	genome.wustl.edu	37	chr1	62916244	62916244	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaattagagttggtggAaatacacagccaagtaaagt	15	10	11	5	0	1	1	1	0	0	1	1	2	1	2	1	2	2	2	1	2	7	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:62916244A>T	ENST00000339950.4	+	9	2765	c.1950A>T	c.(1948-1950)ggA>ggT	p.G650G	USP1_ENST00000371146.1_Silent_p.G650G	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	650	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GAGTTGGTGGAAATACACAGC	0.368																																					Ovarian(122;1846 2315 3982 19504)												0													59	61	60					1																	62916244		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1950A>T	1.37:g.62916244A>T			A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G650	ENST00000339950.4	37	c.1950	CCDS621.1	1																																																																																			USP1	-	pfscan_Peptidase_C19/C67	ENSG00000162607		0.368	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1	-	0	54	0	A	NM_001017415		62916244	1	tier1	-	no_errors	ENST00000339950	ensembl	human	known	74_37	silent	29.69	45	19	SNP	0.761	T	T	62916244	A	T	62916244	2	4	29	1	0	0	0	0	0	0	0	1	17089	233	9	5		5	USP1	1	62916244	Silent	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	5426974	62916244	186334377	6	7106											
C1orf173	127254	genome.wustl.edu	37	chr1	75086594	75086594	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttatgaatccttcttGaatcctgaaataaacagaaa	16	14	5	6	0	1	4	0	3	1	1	3	4	3	4	2	0	1	1	2	0	7	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:75086594G>T	ENST00000326665.5	-	8	1042	c.824C>A	c.(823-825)tCa>tAa	p.S275*	C1orf173_ENST00000420661.2_Nonsense_Mutation_p.S78*|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		275								p.S275*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AATCCTTCTTGAATCCTGAAA	0.318																																																	1	Substitution - Nonsense(1)	lung(1)											66	63	64					1																	75086594		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000326665.5:c.824C>A	1.37:g.75086594G>T	ENSP00000322609:p.Ser275*		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	NULL	p.S275*	ENST00000326665.5	37	c.824	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663435	0.67700	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.149	20.239	0.98366	0.0:0.0:1.0:0.0	.	.	.	.	X	275;78	.	ENSP00000322609:S275X	S	-	2	0	C1orf173	74859182	0.938000	0.31826	0.954000	0.39281	0.060000	0.15804	4.644000	0.61397	2.884000	0.98904	0.655000	0.94253	TCA	C1orf173	-	NULL	ENSG00000178965		0.318	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1		0	45	0	G			75086594	-1			no_errors	ENST00000326665	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	0.937	T	T	75086594	G	T	75086594	4	4	29	1	0	0	0	0	0	1	0	0	2021	1294	45	3	3796	3	C1orf173	1	75086594	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	12170350	75086594	174164027	7	7107											
LPAR3	23566	genome.wustl.edu	37	chr1	85279550	85279550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggaagtgcttttattgcaGactgcaccttggctaatact	10	14	9	8	0	0	1	0	0	0	1	0	2	0	2	1	2	4	4	1	2	5	7			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:85279550G>A	ENST00000440886.1	-	2	1079	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	LPAR3_ENST00000370611.3_Silent_p.V347V|LPAR3_ENST00000491034.1_5'Flank			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	347					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TTTTATTGCAGACTGCACCTT	0.522																																																	0													98	89	92					1																	85279550		2203	4300	6503	SO:0001819	synonymous_variant	0			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	14298	protein-coding gene	gene with protein product		605106	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.1041C>T	1.37:g.85279550G>A			A0AVA3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt	p.V347	ENST00000440886.1	37	c.1041	CCDS700.1	1																																																																																			LPAR3	-	prints_LPA_rcpt_EDG7	ENSG00000171517		0.522	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR3	HGNC	protein_coding	OTTHUMT00000027467.1	-	0	46	0	G	NM_012152		85279550	-1	tier1	-	no_errors	ENST00000370611	ensembl	human	known	74_37	silent	37.25	32	19	SNP	0.623	A	A	85279550	G	A	85279550	2	1	29	1	0	0	0	0	0	0	0	1	8941	929	33	3		3	LPAR3	1	85279550	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	10192956	85279550	163971071	8	7108											
MCOLN2	255231	genome.wustl.edu	37	chr1	85422175	85422175	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaacatggtccctttcttGtaatgctgcttacagacttt	9	15	8	9	0	1	1	0	0	1	1	2	2	2	2	1	2	4	3	1	2	3	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:85422175G>T	ENST00000370608.3	-	4	571	c.504C>A	c.(502-504)taC>taA	p.Y168*	MCOLN2_ENST00000284027.5_Nonsense_Mutation_p.Y140*|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	168					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TCCCTTTCTTGTAATGCTGCT	0.383																																																	0													225	212	216					1																	85422175		2203	4300	6503	SO:0001587	stop_gained	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"Voltage-gated ion channels / Transient receptor potential cation channels"	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.504C>A	1.37:g.85422175G>T	ENSP00000359640:p.Tyr168*		A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Nonsense_Mutation	SNP	pfam_PKD1_2_channel	p.Y168*	ENST00000370608.3	37	c.504	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452721	0.63290	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	.	.	.	5.16	1.14	0.20703	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.0744	10.4484	0.44507	0.2856:0.0:0.7144:0.0	.	.	.	.	X	168;140	.	ENSP00000284027:Y140X	Y	-	3	2	MCOLN2	85194763	1.000000	0.71417	0.999000	0.59377	0.280000	0.26924	0.955000	0.29188	0.289000	0.22422	0.650000	0.86243	TAC	MCOLN2	-	NULL	ENSG00000153898		0.383	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2		0	59	0	G	NM_153259		85422175	-1			no_errors	ENST00000370608	ensembl	human	known	74_37	nonsense	6.33	74	5	SNP	1.000	T	T	85422175	G	T	85422175	4	4	29	1	0	0	0	0	0	1	0	0	9434	1372	48	3	1240	3	MCOLN2	1	85422175	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	142625	85422175	163828446	9	7109											
PTGFRN	5738	genome.wustl.edu	37	chr1	117491860	117491860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtggctgaaggaaaGgaactggacctgacctgtaa	11	9	14	7	0	1	2	0	2	1	0	1	5	1	5	2	4	1	2	2	4	4	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:117491860G>T	ENST00000393203.2	+	4	1026	c.879G>T	c.(877-879)aaG>aaT	p.K293N		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	293	Ig-like C2-type 3.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGAAGGAAAGGAACTGGACC	0.502																																																	0													117	108	111					1																	117491860		2203	4300	6503	SO:0001583	missense	0			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.879G>T	1.37:g.117491860G>T	ENSP00000376899:p.Lys293Asn		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K293N	ENST00000393203.2	37	c.879	CCDS890.1	1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139379	0.37728	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.29397	1.57	5.77	3.78	0.43462	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.425446	0.27922	N	0.017313	T	0.08358	0.0208	N	0.24115	0.695	0.35482	D	0.798216	B	0.09022	0.002	B	0.09377	0.004	T	0.10382	-1.0632	10	0.26408	T	0.33	-36.5665	7.8702	0.29561	0.0:0.1631:0.6449:0.192	.	293	Q9P2B2	FPRP_HUMAN	N	293;152	ENSP00000376899:K293N	ENSP00000376899:K293N	K	+	3	2	PTGFRN	117293383	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	1.300000	0.33436	2.724000	0.93272	0.561000	0.74099	AAG	PTGFRN	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000134247		0.502	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1		0	64	0	G	NM_020440		117491860	1			no_errors	ENST00000393203	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.990	T	T	117491860	G	T	117491860	3	4	29	1	0	0	0	0	1	0	0	0	12793	991	35	3	893	3	PTGFRN	1	117491860	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	32069685	117491860	131758761	10	7110											
BOLA1	51027	genome.wustl.edu	37	chr1	149871973	149871973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagagaactctcagctgGacactagccccccatgcctg	10	6	11	14	0	1	2	1	0	1	2	2	5	1	3	4	2	4	1	4	2	2	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:149871973G>T	ENST00000369153.2	+	3	1025	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	BOLA1_ENST00000369150.1_Missense_Mutation_p.D121Y|BOLA1_ENST00000369152.5_Missense_Mutation_p.D121Y|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	121						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTCTCAGCTGGACACTAGCCC	0.652																																																	0													27	33	31					1																	149871973		2203	4300	6503	SO:0001583	missense	0			AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.361G>T	1.37:g.149871973G>T	ENSP00000358149:p.Asp121Tyr		B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	pfam_BolA,superfamily_BolA	p.D121Y	ENST00000369153.2	37	c.361	CCDS939.1	1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387103	0.61956	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.45276	0.9;0.9;0.9	5.63	4.71	0.59529	.	0.063347	0.64402	D	0.000007	T	0.26521	0.0648	L	0.40543	1.245	0.45554	D	0.998504	P	0.47962	0.903	P	0.47915	0.561	T	0.13495	-1.0507	10	0.66056	D	0.02	-21.5032	8.2046	0.31446	0.0827:0.16:0.7573:0.0	.	121	Q9Y3E2	BOLA1_HUMAN	Y	121	ENSP00000358149:D121Y;ENSP00000358148:D121Y;ENSP00000358146:D121Y	ENSP00000358146:D121Y	D	+	1	0	BOLA1	148138597	1.000000	0.71417	0.678000	0.29963	0.937000	0.57800	3.935000	0.56560	1.497000	0.48584	0.561000	0.74099	GAC	BOLA1	-	NULL	ENSG00000178096		0.652	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BOLA1	HGNC	protein_coding	OTTHUMT00000033443.2		0	58	0	G	NM_016074		149871973	1			no_errors	ENST00000369150	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.981	T	T	149871973	G	T	149871973	3	4	29	1	0	0	0	0	1	0	0	0	1487	1174	41	3	363	3	BOLA1	1	149871973	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	32380113	149871973	99378648	11	7111											
PSMD4	5710	genome.wustl.edu	37	chr1	151236431	151236431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcaccccagacactggccGtatcctgtccaagctacata	11	8	6	16	1	1	1	1	0	0	1	3	1	3	1	5	1	2	2	5	1	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:151236431G>A	ENST00000368884.3	+	3	289	c.209G>A	c.(208-210)cGt>cAt	p.R70H	PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Missense_Mutation_p.R70H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	70	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACACTGGCCGTATCCTGTCC	0.532																																																	0													107	71	83					1																	151236431		2203	4298	6501	SO:0001583	missense	0			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"Proteasome (prosome, macropain) subunits"	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.209G>A	1.37:g.151236431G>A	ENSP00000357879:p.Arg70His		D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A	p.R70H	ENST00000368884.3	37	c.209	CCDS991.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172168	0.78452	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.14266	2.52;2.52;2.52	5.49	5.49	0.81192	Ssl1-like (1);von Willebrand factor, type A (2);	0.000000	0.64402	D	0.000005	T	0.09774	0.0240	L	0.41710	1.295	0.54753	D	0.999986	P;P	0.38455	0.632;0.632	B;B	0.40444	0.329;0.329	T	0.02588	-1.1137	10	0.59425	D	0.04	-9.0962	17.3319	0.87267	0.0:0.0:1.0:0.0	.	70;70	Q5VWC4;P55036	.;PSMD4_HUMAN	H	70;70;55	ENSP00000357879:R70H;ENSP00000357876:R70H;ENSP00000414499:R55H	ENSP00000357876:R70H	R	+	2	0	PSMD4	149503055	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.457000	0.80775	2.865000	0.98341	0.655000	0.94253	CGT	PSMD4	-	pfam_Ssl1-like,smart_VWF_A,pfscan_VWF_A	ENSG00000159352		0.532	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD4	HGNC	protein_coding	OTTHUMT00000034409.3	-	0	66	0	G	NM_002810		151236431	1	tier1	-	no_errors	ENST00000368884	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	151236431	G	A	151236431	3	1	29	1	0	0	0	0	1	0	0	0	12742	1145	40	1	219	1	PSMD4	1	151236431	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1364458	151236431	98014190	12	7112											
ROBLD3	28956	genome.wustl.edu	37	chr1	156027790	156027790	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccgtgtagccatcaccCgagtggccaaccttctgctg	7	8	12	14	2	2	0	1	0	1	0	2	1	2	0	5	2	3	2	5	2	2	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:156027790C>A	ENST00000368305.4	+	3	391	c.253C>A	c.(253-255)Cga>Aga	p.R85R	LAMTOR2_ENST00000368304.5_Intron|LAMTOR2_ENST00000368302.3_Silent_p.R85R	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	85					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						AGCCATCACCCGAGTGGCCAA	0.577																																																	0													203	151	169					1																	156027790		2203	4300	6503	SO:0001819	synonymous_variant	0			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein"	610389	"roadblock domain containing 3"	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.253C>A	1.37:g.156027790C>A			Q5VY97|Q5VY98|Q5VY99	Silent	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel	p.R85	ENST00000368305.4	37	c.253	CCDS1128.1	1																																																																																			LAMTOR2	-	pfam_Dynein_light-rel,smart_Dynein_light-rel	ENSG00000116586		0.577	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR2	HGNC	protein_coding	OTTHUMT00000046197.1		0	42	0	C	NM_014017		156027790	1			no_errors	ENST00000368302	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.899	A	A	156027790	C	A	156027790	2	1	29	1	0	0	0	0	0	0	0	1	13557	644	23	2		2	ROBLD3	1	156027790	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	4791359	156027790	93222831	13	7113											
GPA33	10223	genome.wustl.edu	37	chr1	167042740	167042740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccgaagaacgtcctgcGgagtttccacagagatggca	12	6	12	11	3	0	2	0	0	0	2	2	5	2	3	3	2	3	2	3	2	3	1	rs187104315		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:167042740G>T	ENST00000367868.3	-	2	423	c.80C>A	c.(79-81)cCg>cAg	p.P27Q	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	27	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AACGTCCTGCGGAGTTTCCAC	0.542																																																	0													94	75	81					1																	167042740		2203	4300	6503	SO:0001583	missense	0			U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.80C>A	1.37:g.167042740G>T	ENSP00000356842:p.Pro27Gln		Q5VZP6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P27Q	ENST00000367868.3	37	c.80	CCDS1258.1	1	.	.	.	.	.	.	.	.	.	.	g	16.51	3.144709	0.57044	.	.	ENSG00000143167	ENST00000367868	T	0.66638	-0.22	5.26	4.35	0.52113	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.292594	0.38492	N	0.001663	T	0.67230	0.2871	M	0.80508	2.5	0.09310	N	1	P	0.45634	0.863	P	0.54312	0.748	T	0.64158	-0.6473	10	0.87932	D	0	.	10.081	0.42391	0.0931:0.0:0.9069:0.0	.	27	Q99795	GPA33_HUMAN	Q	27	ENSP00000356842:P27Q	ENSP00000356842:P27Q	P	-	2	0	GPA33	165309364	0.803000	0.28956	0.002000	0.10522	0.000000	0.00434	3.151000	0.50670	1.217000	0.43442	-0.119000	0.15052	CCG	GPA33	-	pfam_Ig_V-set,pfscan_Ig-like_dom	ENSG00000143167		0.542	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPA33	HGNC	protein_coding	OTTHUMT00000083245.1	-	0	58	0	G	NM_005814		167042740	-1	tier1	-	no_errors	ENST00000367868	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.005	T	T	167042740	G	T	167042740	3	4	29	1	0	0	0	0	1	0	0	0	6612	1116	39	2	903	2	GPA33	1	167042740	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	11014950	167042740	82207881	14	7114											
ADCY10	55811	genome.wustl.edu	37	chr1	167802271	167802271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgattcacataatgaaagtGtctgtttttctcgacatgga	11	14	8	8	2	3	1	1	1	2	0	4	4	3	2	1	1	0	1	1	1	2	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:167802271G>T	ENST00000367851.4	-	25	3731	c.3547C>A	c.(3547-3549)Cac>Aac	p.H1183N	ADCY10_ENST00000367848.1_Missense_Mutation_p.H1091N|ADCY10_ENST00000545172.1_Missense_Mutation_p.H1030N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1183					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAATGAAAGTGTCTGTTTTTC	0.493																																																	0													183	186	185					1																	167802271		2203	4300	6503	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3547C>A	1.37:g.167802271G>T	ENSP00000356825:p.His1183Asn		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.H1183N	ENST00000367851.4	37	c.3547	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253105	0.22965	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.28895	1.59;1.59;1.59	5.48	4.55	0.56014	.	0.376715	0.25932	N	0.027364	T	0.17704	0.0425	M	0.66939	2.045	0.24686	N	0.993339	B;B	0.14438	0.01;0.003	B;B	0.11329	0.006;0.003	T	0.07654	-1.0761	9	0.45353	T	0.12	-9.2787	11.7181	0.51666	0.0:0.0:0.8114:0.1886	.	1091;1183	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1030;84;1183;1091	ENSP00000441992:H1030N;ENSP00000356825:H1183N;ENSP00000356822:H1091N	ENSP00000271426:H84N	H	-	1	0	ADCY10	166068895	0.998000	0.40836	0.832000	0.32986	0.177000	0.22998	1.583000	0.36579	1.414000	0.47017	0.643000	0.83706	CAC	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.493	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0	73	0	G	NM_018417		167802271	-1	tier1	-	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.860	T	T	167802271	G	T	167802271	3	4	29	1	0	0	0	0	1	0	0	0	293	1377	48	3	1321	3	ADCY10	1	167802271	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	759531	167802271	81448350	15	7115											
QSOX1	5768	genome.wustl.edu	37	chr1	180155248	180155248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatcctgcggatagaagtGggcaggttcccggtcctgga	8	9	14	10	2	0	1	0	0	0	1	3	3	3	3	3	5	2	2	3	5	3	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:180155248G>T	ENST00000367602.3	+	8	1022	c.948G>T	c.(946-948)gtG>gtT	p.V316V	QSOX1_ENST00000367600.5_Silent_p.V316V			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	316					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGATAGAAGTGGGCAGGTTCC	0.557																																																	0													96	92	93					1																	180155248		2203	4300	6503	SO:0001819	synonymous_variant	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.948G>T	1.37:g.180155248G>T			Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.V316	ENST00000367602.3	37	c.948	CCDS1337.1	1																																																																																			QSOX1	-	NULL	ENSG00000116260		0.557	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1		0	71	0	G	NM_002826		180155248	1			no_errors	ENST00000367602	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.999	T	T	180155248	G	T	180155248	2	4	29	1	0	0	0	0	0	0	0	1	12928	1335	47	3		3	QSOX1	1	180155248	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	12352977	180155248	69095373	16	7116											
RNASEL	6041	genome.wustl.edu	37	chr1	182553281	182553281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttatcaaaatctgccaGgtgagcagctttcttagaat	11	13	8	9	0	4	2	1	1	3	1	4	2	4	2	1	1	3	3	1	1	5	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:182553281G>T	ENST00000367559.3	-	3	1754	c.1501C>A	c.(1501-1503)Ctg>Atg	p.L501M	RNASEL_ENST00000539397.1_Missense_Mutation_p.L501M|RNASEL_ENST00000444138.1_Missense_Mutation_p.L501M	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	501	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						AAATCTGCCAGGTGAGCAGCT	0.368																																																	0													115	118	117					1																	182553281		2203	4300	6503	SO:0001583	missense	0			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1501C>A	1.37:g.182553281G>T	ENSP00000356530:p.Leu501Met		Q5W0L2|Q6AI46	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.L501M	ENST00000367559.3	37	c.1501	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514268	0.44763	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.72835	-0.69;-0.69;-0.69	5.02	0.922	0.19408	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.135581	0.33235	N	0.005136	D	0.82834	0.5123	M	0.91561	3.22	0.22266	N	0.999245	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.985	T	0.71374	-0.4612	10	0.52906	T	0.07	-9.0488	6.0658	0.19862	0.3032:0.136:0.5608:0.0	.	501;501	Q6AI46;Q05823	.;RN5A_HUMAN	M	501	ENSP00000356530:L501M;ENSP00000411147:L501M;ENSP00000440844:L501M	ENSP00000356530:L501M	L	-	1	2	RNASEL	180819904	0.126000	0.22350	0.429000	0.26710	0.777000	0.43975	0.153000	0.16323	0.240000	0.21263	0.655000	0.94253	CTG	RNASEL	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000135828		0.368	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	HGNC	protein_coding	OTTHUMT00000085189.1	-	0	83	0	G	NM_021133		182553281	-1	tier1	-	no_errors	ENST00000367559	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.113	T	T	182553281	G	T	182553281	3	4	29	1	0	0	0	0	1	0	0	0	13461	991	35	3	744	3	RNASEL	1	182553281	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	2398033	182553281	66697340	17	7117											
TROVE2	6738	genome.wustl.edu	37	chr1	193045171	193045171	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcacttaaagtctaaagagGtgagtgaattatatgttaca	16	13	8	4	0	2	3	1	2	1	1	2	3	2	3	0	1	1	1	0	1	8	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:193045171G>T	ENST00000367446.3	+	3	1011		c.e3+1		TROVE2_ENST00000416058.2_Splice_Site|TROVE2_ENST00000367441.1_Splice_Site|TROVE2_ENST00000400968.2_Splice_Site|TROVE2_ENST00000367445.3_Splice_Site|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Splice_Site|TROVE2_ENST00000367443.1_Splice_Site|TROVE2_ENST00000432079.1_Splice_Site	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						GTCTAAAGAGGTGAGTGAATT	0.308																																																	0													39	38	38					1																	193045171		1817	4078	5895	SO:0001630	splice_region_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.801+1G>T	1.37:g.193045171G>T			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Splice_Site	SNP	-	e2+1	ENST00000367446.3	37	c.801+1	CCDS1379.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012785	0.75161	.	.	ENSG00000116747	ENST00000400968;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4364	0.99089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TROVE2	191311794	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	9.272000	0.95707	2.843000	0.97960	0.585000	0.79938	.	TROVE2	-	-	ENSG00000116747		0.308	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1		0	51	0	G	NM_004600	Intron	193045171	1			no_errors	ENST00000367441	ensembl	human	known	74_37	splice_site	6.25	30	2	SNP	1.000	T	T	193045171	G	T	193045171	5	4	29	1	0	0	0	0	0	0	1	0	16624	1275	44	3	808	3	TROVE2	1	193045171	Splice_Site	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	10491890	193045171	56205450	18	7118											
PFKFB2	5208	genome.wustl.edu	37	chr1	207236027	207236027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagtcctacgacttctttCggcatgacaatgaggaggcc	11	10	10	10	2	1	2	0	2	1	0	3	4	2	3	2	3	1	1	2	3	3	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:207236027C>T	ENST00000367080.3	+	4	398	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	PFKFB2_ENST00000545806.1_Missense_Mutation_p.R59W|PFKFB2_ENST00000411990.2_5'UTR|PFKFB2_ENST00000541914.1_5'Flank|PFKFB2_ENST00000367079.2_Missense_Mutation_p.R92W	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	92	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CGACTTCTTTCGGCATGACAA	0.468																																																	0													233	234	234					1																	207236027		2203	4300	6503	SO:0001583	missense	0				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.274C>T	1.37:g.207236027C>T	ENSP00000356047:p.Arg92Trp		O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.R92W	ENST00000367080.3	37	c.274	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459184	0.84317	.	.	ENSG00000123836	ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	4.87	4.87	0.63330	6-phosphofructo-2-kinase (1);	0.000000	0.85682	D	0.000000	T	0.81456	0.4826	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.916	D	0.84765	0.0764	9	0.72032	D	0.01	.	12.7898	0.57526	0.1747:0.8253:0.0:0.0	.	92;92	Q5VVQ3;O60825	.;F262_HUMAN	W	92;92;59	.	ENSP00000356046:R92W	R	+	1	2	PFKFB2	205302650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.815000	0.27253	2.542000	0.85734	0.655000	0.94253	CGG	PFKFB2	-	pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000123836		0.468	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	-	0	87	0	C			207236027	1	tier1	-	no_errors	ENST00000367080	ensembl	human	known	74_37	missense	39.39	40	26	SNP	1.000	T	T	207236027	C	T	207236027	3	4	29	1	0	0	0	0	1	0	0	0	11800	875	31	1	284	1	PFKFB2	1	207236027	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	14190856	207236027	42014594	19	7119											
RYR2	6262	genome.wustl.edu	37	chr1	237780787	237780787	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcaccacctcaagaacagGtacagaaatgaaatgaaaat	20	6	7	8	0	2	4	2	2	0	2	2	5	2	4	2	1	2	1	2	1	7	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:237780787G>T	ENST00000366574.2	+	38	6233		c.e38+1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAAGAACAGGTACAGAAATG	0.388																																																	0													77	72	73					1																	237780787		1968	4151	6119	SO:0001630	splice_region_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5916+1G>T	1.37:g.237780787G>T			Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	-	e39+1	ENST00000366574.2	37	c.5910+1	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390036	0.82902	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6372	0.91383	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235847410	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.813000	0.99286	2.401000	0.81631	0.650000	0.86243	.	RYR2	-	-	ENSG00000198626		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	30	0	G	NM_001035	Intron	237780787	1			no_errors	ENST00000360064	ensembl	human	known	74_37	splice_site	9.68	28	3	SNP	1.000	T	T	237780787	G	T	237780787	5	4	29	1	0	0	0	0	0	0	1	0	13814	1275	44	3	6067	3	RYR2	1	237780787	Splice_Site	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	30544760	237780787	11469834	20	7120											
ZNF496	84838	genome.wustl.edu	37	chr1	247471852	247471852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcagctcctcacgtttccTtctttcttctacctggaatg	5	16	6	14	1	4	0	1	0	3	0	6	1	6	1	3	1	3	3	3	1	2	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:247471852T>C	ENST00000294753.4	-	8	1395	c.931A>G	c.(931-933)Agg>Ggg	p.R311G	ZNF496_ENST00000366498.2_Missense_Mutation_p.R347G|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	311					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCACGTTTCCTTCTTTCTTCT	0.522																																																	0													160	148	152					1																	247471852		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.931A>G	1.37:g.247471852T>C	ENSP00000294753:p.Arg311Gly		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R347G	ENST00000294753.4	37	c.1039	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	T	0.109	-1.141006	0.01728	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.07114	3.22;3.23	3.09	-0.7	0.11273	.	0.738449	0.11673	N	0.540627	T	0.04861	0.0131	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.43294	-0.9400	10	0.24483	T	0.36	-9.6465	4.187	0.10402	0.0:0.1227:0.4053:0.472	.	347;311	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	G	311;347	ENSP00000294753:R311G;ENSP00000355454:R347G	ENSP00000294753:R311G	R	-	1	2	ZNF496	245538475	0.553000	0.26513	0.076000	0.20297	0.041000	0.13682	0.092000	0.15066	-0.151000	0.11176	0.379000	0.24179	AGG	ZNF496	-	NULL	ENSG00000162714		0.522	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	73	0	T	NM_032752		247471852	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	31.58	52	24	SNP	0.095	C	C	247471852	T	C	247471852	3	2	29	1	0	0	0	0	1	0	0	0	17993	1608	56	4	840	4	ZNF496	1	247471852	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	9691065	247471852	1778769	21	7121											
OR11L1	391189	genome.wustl.edu	37	chr1	248004325	248004325	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaagtctttgttcctcaAgctgtagataactgggttca	9	16	9	7	0	3	2	2	1	1	1	4	2	4	2	1	1	2	4	1	1	4	6	rs184029383		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr1:248004325A>G	ENST00000355784.2	-	1	929	c.874T>C	c.(874-876)Ttg>Ctg	p.L292L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	292						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTGTTCCTCAAGCTGTAGATA	0.413																																																	0													89	83	85					1																	248004325		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.874T>C	1.37:g.248004325A>G				Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L292	ENST00000355784.2	37	c.874	CCDS31098.1	1																																																																																			OR11L1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000197591		0.413	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	-	0	27	0	A	NM_001001959		248004325	-1	tier1	-	no_errors	ENST00000355784	ensembl	human	known	74_37	silent	23.08	40	12	SNP	0.928	G	G	248004325	A	G	248004325	2	3	29	1	0	0	0	0	0	0	0	1	10969	69	3	4		4	OR11L1	1	248004325	Silent	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	532473	248004325	1246296	22	7122											
GEN1	348654	genome.wustl.edu	37	chr2	17963086	17963086	+	Frame_Shift_Del	DEL	T	T	-																															gaagaaagctgtttcccagaTtcaacaaaaagttctctgag																										TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:17963086delT	ENST00000381254.2	+	14	2821	c.2607delT	c.(2605-2607)gatfs	p.D869fs	GEN1_ENST00000317402.7_Frame_Shift_Del_p.D869fs|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	869					DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTTCCCAGATTCAACAAAAA	0.368								Homologous recombination																																									0													41	43	43					2																	17963086		2203	4300	6503	SO:0001589	frameshift_variant	0			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"Holliday junction resolvase"	612449	"Gen endonuclease homolog 1 (Drosophila)"			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.2607delT	2.37:g.17963086delT	ENSP00000370653:p.Asp869fs		Q17RS9|Q6ZN37	Frame_Shift_Del	DEL	pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2	p.S870fs	ENST00000381254.2	37	c.2607	CCDS1691.1	2																																																																																			GEN1	-	NULL	ENSG00000178295		0.368	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2		0	103	0	T	NM_182625		17963086	1	tier1		no_errors	ENST00000317402	ensembl	human	known	74_37	frame_shift_del	29.00	71	29	DEL	0.000	-	-	17963086	T	-	17963086	7	5	29	1	0	1	0	1	0	0	0	0	6361	1490	52	0	2657	0	GEN1	2	17963086	Frame_Shift_Del	DEL	T	TCGA-IG-A6QS-01A-12D-A33E-09		17963086	225236287	23	7123											
DHX57	90957	genome.wustl.edu	37	chr2	39090566	39090566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctttcactttctcttgaTtctcagaagtcatatgtaga	10	16	7	8	0	4	3	3	1	2	2	6	4	4	3	0	0	1	2	0	0	3	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:39090566T>A	ENST00000295373.6	-	3	446	c.320A>T	c.(319-321)aAt>aTt	p.N107I	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	107							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTCTCTTGATTCTCAGAAGT	0.393																																					Melanoma(191;1090 2095 4375 23729 47341)												0													184	178	180					2																	39090566		2203	4300	6503	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.320A>T	2.37:g.39090566T>A	ENSP00000295373:p.Asn107Ile		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N107I	ENST00000295373.6	37	c.320	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669308	0.88348	.	.	ENSG00000163214	ENST00000295373;ENST00000355320;ENST00000417233	T	0.03152	4.03	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000013	T	0.11537	0.0281	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.995	D;P	0.76071	0.987;0.873	T	0.03503	-1.1030	10	0.62326	D	0.03	.	15.9133	0.79488	0.0:0.0:0.0:1.0	.	107;107	Q6P158-2;Q6P158	.;DHX57_HUMAN	I	107;5;5	ENSP00000295373:N107I	ENSP00000295373:N107I	N	-	2	0	DHX57	38944070	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.996000	0.76263	2.156000	0.67533	0.459000	0.35465	AAT	DHX57	-	NULL	ENSG00000163214		0.393	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	-	0	118	0	T	NM_145646		39090566	-1	tier1	-	no_errors	ENST00000295373	ensembl	human	known	74_37	missense	39.55	81	53	SNP	1.000	A	A	39090566	T	A	39090566	3	1	29	1	0	0	0	0	1	0	0	0	4527	1493	52	5	3928	5	DHX57	2	39090566	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	21127480	39090566	204108807	24	7124											
BCL11A	53335	genome.wustl.edu	37	chr2	60689333	60689333	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggtattcttagcaggttAaaggggttattgtctgcaat	9	15	11	6	0	2	0	0	0	2	0	2	0	2	0	1	4	2	5	1	4	6	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:60689333A>C	ENST00000335712.6	-	4	941	c.714T>G	c.(712-714)ttT>ttG	p.F238L	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.F204L|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.F204L|BCL11A_ENST00000356842.4_Missense_Mutation_p.F238L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	238					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTAGCAGGTTAAAGGGGTTAT	0.562			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													87	84	85					2																	60689333		2203	4300	6503	SO:0001583	missense	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"Zinc fingers, C2H2-type"	13221	protein-coding gene	gene with protein product		606557	"ecotropic viral integration site 9"	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.714T>G	2.37:g.60689333A>C	ENSP00000338774:p.Phe238Leu		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F238L	ENST00000335712.6	37	c.714	CCDS1862.1	2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066869	0.76301	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.12774	2.65;2.93;2.93;2.89	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.50333	1.59	0.80722	D	1	D;B;D;P	0.55172	0.968;0.206;0.97;0.948	P;B;P;B	0.56751	0.805;0.086;0.643;0.387	T	0.00373	-1.1781	10	0.54805	T	0.06	-1.2552	16.3736	0.83374	1.0:0.0:0.0:0.0	.	204;204;238;238	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	L	238;274;204;238;204	ENSP00000349300:F238L;ENSP00000438303:F204L;ENSP00000338774:F238L;ENSP00000351307:F204L	ENSP00000338774:F238L	F	-	3	2	BCL11A	60542837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.390000	0.79816	2.273000	0.75805	0.482000	0.46254	TTT	BCL11A	-	NULL	ENSG00000119866		0.562	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	-	0	84	0	A	NM_022893		60689333	-1	tier1	-	no_errors	ENST00000335712	ensembl	human	known	74_37	missense	39.36	57	37	SNP	1.000	C	C	60689333	A	C	60689333	3	2	29	1	0	0	0	0	1	0	0	0	1364	359	13	4	1903	4	BCL11A	2	60689333	Missense_Mutation	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	21598767	60689333	182510040	25	7125											
C2orf42	54980	genome.wustl.edu	37	chr2	70406666	70406666	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaaccagactcttaccaGatacttcatcctttctcctc	11	12	2	16	0	3	2	1	0	2	2	6	2	4	2	5	0	4	0	5	0	4	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:70406666G>C	ENST00000264434.2	-	4	1311	c.932C>G	c.(931-933)tCt>tGt	p.S311C	C2orf42_ENST00000420306.1_Missense_Mutation_p.S311C|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	311										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACTCTTACCAGATACTTCATC	0.388																																																	0													127	125	126					2																	70406666		2203	4300	6503	SO:0001583	missense	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.932C>G	2.37:g.70406666G>C	ENSP00000264434:p.Ser311Cys		D6W5G3|Q9H629	Missense_Mutation	SNP	NULL	p.S311C	ENST00000264434.2	37	c.932	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897535	0.72639	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	D;D	0.93906	-3.31;-3.31	5.09	5.09	0.68999	.	0.387436	0.30528	N	0.009424	D	0.89508	0.6735	N	0.22421	0.69	0.31320	N	0.686115	P	0.49447	0.924	B	0.43360	0.417	D	0.90015	0.4124	10	0.56958	D	0.05	-17.9615	17.2888	0.87150	0.0:0.0:1.0:0.0	.	311	Q9NWW7	CB042_HUMAN	C	311	ENSP00000264434:S311C;ENSP00000404515:S311C	ENSP00000264434:S311C	S	-	2	0	C2orf42	70260170	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.727000	0.68523	2.664000	0.90586	0.650000	0.86243	TCT	C2orf42	-	NULL	ENSG00000115998		0.388	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	-	0	91	0	G	NM_017880		70406666	-1	tier1	-	no_errors	ENST00000264434	ensembl	human	known	74_37	missense	31.82	60	28	SNP	0.998	C	C	70406666	G	C	70406666	3	2	29	1	0	0	0	0	1	0	0	0	2173	942	33	5	820	5	C2orf42	2	70406666	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	9717333	70406666	172792707	26	7126											
ALMS1	7840	genome.wustl.edu	37	chr2	73800518	73800518	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacaggtcatcccctagtGacttctgagcacaccagaag	13	8	8	12	0	2	3	1	2	1	1	3	3	3	3	3	1	2	1	3	1	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:73800518G>T	ENST00000264448.6	+	16	11622	c.11511G>T	c.(11509-11511)gtG>gtT	p.V3837V	ALMS1_ENST00000409009.1_Silent_p.V3795V	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3837					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATCCCCTAGTGACTTCTGAGC	0.448																																																	0													68	69	69					2																	73800518		1991	4181	6172	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11511G>T	2.37:g.73800518G>T			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.V3837	ENST00000264448.6	37	c.11511	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	54	0	G	NM_015120		73800518	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.855	T	T	73800518	G	T	73800518	2	4	29	1	0	0	0	0	0	0	0	1	535	1277	45	3		3	ALMS1	2	73800518	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	3393852	73800518	169398855	27	7127											
TEKT4	150483	genome.wustl.edu	37	chr2	95539265	95539265	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggcgtctcctccctcagGaagccgagctcatccggaac	8	6	11	16	3	3	0	2	0	1	0	6	3	5	2	4	3	3	1	4	3	2	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:95539265G>T	ENST00000295201.4	+	2	636	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	167					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCTCCCTCAGGAAGCCGAGCT	0.602																																																	0													67	62	64					2																	95539265		2203	4300	6503	SO:0001630	splice_region_variant	0			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.499-1G>T	2.37:g.95539265G>T				Nonsense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.E167*	ENST00000295201.4	37	c.499	CCDS2005.1	2	.	.	.	.	.	.	.	.	.	.	.	18.09	3.547345	0.65311	.	.	ENSG00000163060	ENST00000295201	.	.	.	1.64	1.64	0.23874	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.278	6.6605	0.23011	0.0:0.0:1.0:0.0	.	.	.	.	X	167	.	ENSP00000295201:E167X	E	+	1	0	TEKT4	94902992	1.000000	0.71417	0.765000	0.31456	0.666000	0.39218	4.503000	0.60407	0.900000	0.36469	0.196000	0.17591	GAA	TEKT4	-	pfam_Tektin	ENSG00000163060		0.602	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	HGNC	protein_coding	OTTHUMT00000252777.1	-	0	45	0	G	NM_144705	Nonsense_Mutation	95539265	1	tier1	-	no_errors	ENST00000295201	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	95539265	G	T	95539265	5	4	29	1	0	0	0	0	0	0	1	0	15802	1188	41	3	505	3	TEKT4	2	95539265	Splice_Site	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	21738747	95539265	147660108	28	7128											
SLC9A4	389015	genome.wustl.edu	37	chr2	103124546	103124546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccctttctaggcgtatttGctctcttctatatcagtaac	7	16	5	13	1	4	0	1	0	3	0	5	0	4	0	2	1	2	3	2	1	5	8			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:103124546G>T	ENST00000295269.4	+	5	1664	c.1207G>T	c.(1207-1209)Gct>Tct	p.A403S		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	403					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGCGTATTTGCTCTCTTCTA	0.478																																																	0													140	143	142					2																	103124546		2203	4300	6503	SO:0001583	missense	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1207G>T	2.37:g.103124546G>T	ENSP00000295269:p.Ala403Ser		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.A403S	ENST00000295269.4	37	c.1207	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214383	0.39102	.	.	ENSG00000180251	ENST00000295269	T	0.16073	2.37	5.1	2.21	0.28008	Cation/H+ exchanger (1);	0.228496	0.45606	N	0.000345	T	0.05960	0.0155	N	0.05280	-0.08	0.26671	N	0.971738	B	0.16603	0.018	B	0.15870	0.014	T	0.29610	-1.0006	10	0.23891	T	0.37	.	1.9746	0.03413	0.1536:0.1347:0.435:0.2767	.	403	Q6AI14	SL9A4_HUMAN	S	403	ENSP00000295269:A403S	ENSP00000295269:A403S	A	+	1	0	SLC9A4	102490978	0.998000	0.40836	0.854000	0.33618	0.917000	0.54804	1.997000	0.40786	0.226000	0.20979	-0.136000	0.14681	GCT	SLC9A4	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000180251		0.478	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	-	0	62	0	G	NM_001011552.3		103124546	1	tier1	-	no_errors	ENST00000295269	ensembl	human	known	74_37	missense	29.27	58	24	SNP	0.924	T	T	103124546	G	T	103124546	3	4	29	1	0	0	0	0	1	0	0	0	14761	1319	46	3	1225	3	SLC9A4	2	103124546	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	7585281	103124546	140074827	29	7129											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125555898	125555898	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttctgctctgcaagaatgGtgagtgtgatggcatgatac	9	13	13	6	0	2	4	0	3	2	1	2	4	2	4	0	2	3	4	0	2	3	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:125555898G>T	ENST00000431078.1	+	19	3578		c.e19+1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.G1072V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCAAGAATGGTGAGTGTGAT	0.502																																																	1	Substitution - Missense(1)	lung(1)											88	87	87					2																	125555898		1989	4172	6161	SO:0001630	splice_region_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3214+1G>T	2.37:g.125555898G>T			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Splice_Site	SNP	-	e19+1	ENST00000431078.1	37	c.3214+1	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812169	0.90707	.	.	ENSG00000155052	ENST00000431078	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3095	0.94179	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP5	125272368	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.861000	0.92277	2.810000	0.96702	0.650000	0.86243	.	CNTNAP5	-	-	ENSG00000155052		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3		0	23	0	G		Intron	125555898	1			no_errors	ENST00000431078	ensembl	human	known	74_37	splice_site	8.00	23	2	SNP	1.000	T	T	125555898	G	T	125555898	5	4	29	1	0	0	0	0	0	0	1	0	3657	1275	44	3	3289	3	CNTNAP5	2	125555898	Splice_Site	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	22431352	125555898	117643475	30	7130											
BAZ2B	29994	genome.wustl.edu	37	chr2	160206655	160206655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgactcaggaggcatcttaGctacttccaaaagcttgctt	10	12	8	11	0	2	1	1	1	1	0	3	2	3	2	1	2	4	4	1	2	4	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:160206655G>A	ENST00000392783.2	-	28	4922	c.4427C>T	c.(4426-4428)gCt>gTt	p.A1476V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1442V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1376V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1440V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1476					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGGCATCTTAGCTACTTCCAA	0.413																																																	0													57	53	55					2																	160206655		1889	4122	6011	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4427C>T	2.37:g.160206655G>A	ENSP00000376534:p.Ala1476Val		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A1476V	ENST00000392783.2	37	c.4427	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628980	0.46944	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.85	5.85	0.93711	.	0.000000	0.36555	U	0.002536	T	0.24431	0.0592	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;0.967	D;P	0.85130	0.997;0.637	T	0.00008	-1.2487	10	0.45353	T	0.12	-13.2313	20.542	0.99273	0.0:0.0:1.0:0.0	.	1440;1476	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	1440;1476;1442;1376	ENSP00000376533:A1440V;ENSP00000376534:A1476V;ENSP00000348087:A1442V;ENSP00000339670:A1376V	ENSP00000339670:A1376V	A	-	2	0	BAZ2B	159914901	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.705000	0.74644	2.932000	0.99384	0.643000	0.83706	GCT	BAZ2B	-	NULL	ENSG00000123636		0.413	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0	83	0	G			160206655	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	30.77	63	28	SNP	1.000	A	A	160206655	G	A	160206655	3	1	29	1	0	0	0	0	1	0	0	0	1333	971	34	3	2119	3	BAZ2B	2	160206655	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	34650757	160206655	82992718	31	7131											
KCNH7	90134	genome.wustl.edu	37	chr2	163279955	163279955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgaatgaactcttttactCgcagcatctgcatgtggtac	10	12	9	10	2	2	1	0	1	2	0	3	2	2	1	0	1	6	4	0	1	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:163279955C>T	ENST00000332142.5	-	9	2144	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R675Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	682					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.R682Q(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTCTTTTACTCGCAGCATCTG	0.448																																					GBM(196;1492 2208 17507 24132 45496)												1	Substitution - Missense(1)	skin(1)											219	204	209					2																	163279955		2203	4300	6503	SO:0001583	missense	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.2045G>A	2.37:g.163279955C>T	ENSP00000331727:p.Arg682Gln		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.R682Q	ENST00000332142.5	37	c.2045	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.323299	0.95708	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.96522	-4.04;-4.04	5.95	5.07	0.68467	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.91635	0.999;0.848	D	0.97612	1.0130	10	0.54805	T	0.06	.	15.5679	0.76309	0.0:0.9331:0.0:0.0669	.	675;682	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	682;675	ENSP00000331727:R682Q;ENSP00000333781:R675Q	ENSP00000333781:R675Q	R	-	2	0	KCNH7	162988201	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	6.084000	0.71335	2.824000	0.97209	0.655000	0.94253	CGA	KCNH7	-	superfamily_cNMP-bd-like	ENSG00000184611		0.448	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	-	0	114	0	C	NM_033272		163279955	-1	tier1	-	no_errors	ENST00000332142	ensembl	human	known	74_37	missense	31.78	88	41	SNP	1.000	T	T	163279955	C	T	163279955	3	4	29	1	0	0	0	0	1	0	0	0	8064	884	31	1	1643	1	KCNH7	2	163279955	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	3073300	163279955	79919418	32	7132											
SCN7A	6332	genome.wustl.edu	37	chr2	167322493	167322493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggacccctacaagggatttCagacctggaaagagaaacat	16	6	10	9	0	1	2	1	0	0	2	1	6	1	5	3	3	2	0	3	3	4	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:167322493C>T	ENST00000409855.1	-	7	795	c.669G>A	c.(667-669)ctG>ctA	p.L223L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	223					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CAAGGGATTTCAGACCTGGAA	0.388																																																	0													31	29	30					2																	167322493		1816	4073	5889	SO:0001819	synonymous_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.669G>A	2.37:g.167322493C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L223	ENST00000409855.1	37	c.669	CCDS46442.1	2																																																																																			SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.388	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	41	0	C			167322493	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	silent	27.50	29	11	SNP	0.963	T	T	167322493	C	T	167322493	2	4	29	1	0	0	0	0	0	0	0	1	13968	813	29	3		3	SCN7A	2	167322493	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	4042538	167322493	75876880	33	7133											
STK39	27347	genome.wustl.edu	37	chr2	168931518	168931518	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttcttttactcttcGtgactgtaaaacaattatgt	10	20	4	7	1	3	1	0	1	3	0	4	1	3	1	0	0	2	1	0	0	5	8			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:168931518G>T	ENST00000355999.4	-	12	1921	c.1216C>A	c.(1216-1218)Cga>Aga	p.R406R	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	406					cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TTTACTCTTCGTGACTGTAAA	0.318																																																	0													126	124	125					2																	168931518		1833	4087	5920	SO:0001819	synonymous_variant	0			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"STE20/SPS1 homolog (yeast)"	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.1216C>A	2.37:g.168931518G>T			O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R406	ENST00000355999.4	37	c.1216	CCDS42770.1	2																																																																																			STK39	-	NULL	ENSG00000198648		0.318	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	-	0	64	0	G	NM_013233		168931518	-1	tier1	-	no_errors	ENST00000355999	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T	T	168931518	G	T	168931518	2	4	29	1	0	0	0	0	0	0	0	1	15352	1153	40	2		2	STK39	2	168931518	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1609025	168931518	74267855	34	7134											
DLX2	1746	genome.wustl.edu	37	chr2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-																															gactcctggggcttgtggagGctgctgctgctgctgctgtt																								rs376692475		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)agcdel	p.S46del	DLX2_ENST00000466293.2_In_Frame_Del_p.S46del|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739																																					GBM(188;775 2993 11256 23072)												0										19,76,3319		3,0,13,8,60,1623						4.5	1			15	96,156,6524		10,3,73,15,123,3164	no	codingComplex	DLX2	NM_004405.3		13,3,86,23,183,4787	A1A1,A1A2,A1R,A2A2,A2R,RR		3.719,2.7827,3.4053				115,232,9843				SO:0001651	inframe_deletion	0			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138delAGC	2.37:g.172967138_172967140delGCT	ENSP00000234198:p.Ser46del		B4DMK4|B7ZA14	In_Frame_Del	DEL	pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.S46in_frame_del	ENST00000234198.4	37	c.138_136	CCDS2248.1	2																																																																																			DLX2	-	NULL	ENSG00000115844		0.739	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX2	HGNC	protein_coding	OTTHUMT00000255368.3		0	43	0	GCT			172967131	-1	tier1		no_errors	ENST00000234198	ensembl	human	known	74_37	in_frame_del	10.17	53	6	DEL	0.998:1.000:1.000	-	-	172967131	GCT	-	172967129	7	5	29	1	0	1	0	1	0	0	0	0	4585	1194	42	0	860	0	DLX2	2	172967129	In_Frame_Del	DEL	GCT	TCGA-IG-A6QS-01A-12D-A33E-09	4035611	172967129	70232244	35	7135											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173894912	173894912	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggagtataaaaatcTgaattccttttttgccatcg	12	15	7	7	1	1	1	0	1	1	0	3	2	2	2	2	1	1	2	2	1	6	7			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:173894912T>G	ENST00000397081.3	+	26	2722	c.2579T>G	c.(2578-2580)cTg>cGg	p.L860R	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.L689R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.L640R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.L716R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.L707R|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.L859R|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.L860R|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.L707R	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	860	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TATAAAAATCTGAATTCCTTT	0.403																																																	0													117	114	115					2																	173894912		1886	4116	6002	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2579T>G	2.37:g.173894912T>G	ENSP00000380271:p.Leu860Arg		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.L860R	ENST00000397081.3	37	c.2579	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.748603	0.89753	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	6.17	6.17	0.99709	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.76686	-0.2868	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	716;860	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	R	859;860;860;716;689;707;707;640;91	ENSP00000264111:L859R;ENSP00000380271:L860R;ENSP00000387104:L860R;ENSP00000380276:L716R;ENSP00000440135:L689R;ENSP00000440250:L707R;ENSP00000437384:L707R;ENSP00000438011:L640R;ENSP00000380274:L91R	ENSP00000264111:L859R	L	+	2	0	RAPGEF4	173603158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	CTG	RAPGEF4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000091428		0.403	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0	56	0	T	NM_007023		173894912	1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	37.50	30	18	SNP	1.000	G	G	173894912	T	G	173894912	3	3	29	1	0	0	0	0	1	0	0	0	13091	1580	55	4	2697	4	RAPGEF4	2	173894912	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	927783	173894912	69304461	36	7136											
MTX2	10651	genome.wustl.edu	37	chr2	177162615	177162615	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacaatgcagcttctcttGcagtgcaggtaaatatgtaa	12	12	9	8	0	1	1	0	1	1	0	2	1	1	1	0	1	4	6	0	1	5	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:177162615G>T	ENST00000249442.6	+	3	338	c.127G>T	c.(127-129)Gca>Tca	p.A43S	MTX2_ENST00000392529.2_Missense_Mutation_p.A33S|MTX2_ENST00000443241.1_Intron	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	43					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			AGCTTCTCTTGCAGTGCAGGT	0.323																																																	0													60	62	62					2																	177162615		2201	4298	6499	SO:0001583	missense	0			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.127G>T	2.37:g.177162615G>T	ENSP00000249442:p.Ala43Ser		A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.A43S	ENST00000249442.6	37	c.127	CCDS2272.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135685	0.77662	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000452865	T;T;T	0.14144	2.53;2.53;2.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	L	0.54323	1.7	0.80722	D	1	P;P	0.46706	0.883;0.724	P;B	0.52554	0.702;0.19	T	0.00095	-1.2077	10	0.27082	T	0.32	-31.1573	20.244	0.98389	0.0:0.0:1.0:0.0	.	43;33	O75431;Q8IZ68	MTX2_HUMAN;.	S	43;33;43	ENSP00000249442:A43S;ENSP00000376314:A33S;ENSP00000398757:A43S	ENSP00000249442:A43S	A	+	1	0	MTX2	176870861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.603000	0.82811	2.865000	0.98341	0.655000	0.94253	GCA	MTX2	-	pfam_Sam37/metaxin,superfamily_Thioredoxin-like_fold	ENSG00000128654		0.323	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTX2	HGNC	protein_coding	OTTHUMT00000255695.4	-	0	71	0	G	NM_006554		177162615	1	tier1	-	no_errors	ENST00000249442	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	177162615	G	T	177162615	3	4	29	1	0	0	0	0	1	0	0	0	10006	1319	46	3	137	3	MTX2	2	177162615	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	3267703	177162615	66036758	37	7137											
CWC22	57703	genome.wustl.edu	37	chr2	180810229	180810229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaacatctttgtctgatGtgtactttgttataggatct	10	17	9	5	0	3	1	0	1	3	0	3	3	3	3	0	2	2	2	0	2	5	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:180810229G>A	ENST00000410053.3	-	20	2653	c.2354C>T	c.(2353-2355)aCa>aTa	p.T785I	CWC22_ENST00000295749.6_Missense_Mutation_p.T785I	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	785					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTTGTCTGATGTGTACTTTGT	0.383																																																	0													228	213	218					2																	180810229		1863	4112	5975	SO:0001583	missense	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2354C>T	2.37:g.180810229G>A	ENSP00000387006:p.Thr785Ile		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.T785I	ENST00000410053.3	37	c.2354	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	G	0.052	-1.247035	0.01481	.	.	ENSG00000163510	ENST00000410053;ENST00000295749	T;T	0.21031	2.03;2.03	4.86	-0.737	0.11129	.	1.673430	0.02797	N	0.122801	T	0.11707	0.0285	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	10	0.21540	T	0.41	-0.0033	4.2391	0.10640	0.4508:0.1738:0.3754:0.0	.	785	Q9HCG8	CWC22_HUMAN	I	785	ENSP00000387006:T785I;ENSP00000295749:T785I	ENSP00000295749:T785I	T	-	2	0	CWC22	180518474	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.253000	0.08794	-0.118000	0.11851	-0.345000	0.07892	ACA	CWC22	-	NULL	ENSG00000163510		0.383	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	-	0	38	0	G	NM_020943		180810229	-1	tier1	-	no_errors	ENST00000295749	ensembl	human	known	74_37	missense	37.14	44	26	SNP	0.000	A	A	180810229	G	A	180810229	3	1	29	1	0	0	0	0	1	0	0	0	4077	1377	48	3	376	3	CWC22	2	180810229	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	3647614	180810229	62389144	38	7138											
COL5A2	1290	genome.wustl.edu	37	chr2	189907496	189907496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttccttgttcaccatttgGaccctaagtaggaatacaat	12	13	6	10	0	1	0	1	0	0	0	2	2	2	2	3	2	1	2	3	2	5	7			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:189907496G>T	ENST00000374866.3	-	49	3749	c.3475C>A	c.(3475-3477)Cca>Aca	p.P1159T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1159					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCACCATTTGGACCCTAAGTA	0.378																																																	0													65	58	61					2																	189907496		2203	4300	6503	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3475C>A	2.37:g.189907496G>T	ENSP00000364000:p.Pro1159Thr		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P1159T	ENST00000374866.3	37	c.3475	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776604	0.49786	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.96651	-4.08	5.76	5.76	0.90799	.	0.000000	0.51477	D	0.000089	D	0.95085	0.8408	M	0.69358	2.11	0.58432	D	0.999998	B;B	0.25272	0.019;0.122	B;B	0.20577	0.012;0.03	D	0.92503	0.6010	10	0.15952	T	0.53	.	20.3316	0.98722	0.0:0.0:1.0:0.0	.	799;1159	Q5PR22;P05997	.;CO5A2_HUMAN	T	1159;799	ENSP00000364000:P1159T	ENSP00000364000:P1159T	P	-	1	0	COL5A2	189615741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.226000	0.51254	2.871000	0.98454	0.655000	0.94253	CCA	COL5A2	-	pfam_Collagen	ENSG00000204262		0.378	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0	48	0	G	NM_000393		189907496	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	189907496	G	T	189907496	3	4	29	1	0	0	0	0	1	0	0	0	3704	1174	41	3	1048	3	COL5A2	2	189907496	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	9097267	189907496	53291877	39	7139											
ANKAR	150709	genome.wustl.edu	37	chr2	190561097	190561097	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttacgttcagccaaggTaccataaagttttttaacct	11	16	6	8	1	1	0	1	0	0	0	1	0	1	0	3	1	4	4	3	1	6	8			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:190561097T>C	ENST00000520309.1	+	7	1796		c.e7+2		ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site|ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing							integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCAGCCAAGGTACCATAAAGT	0.363																																																	0													71	69	69					2																	190561097		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"Ankyrin repeat domain containing", "Armadillo repeat containing"	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1708+2T>C	2.37:g.190561097T>C			Q3ZCS6|Q4G0M2|Q6ZU02	Splice_Site	SNP	-	e6+2	ENST00000520309.1	37	c.1708+2	CCDS33351.2	2	.	.	.	.	.	.	.	.	.	.	T	6.423	0.446128	0.12164	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	.	.	.	5.26	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.434	0.44424	0.1465:0.0:0.0:0.8535	.	.	.	.	.	-1	.	.	.	+	.	.	ANKAR	190269342	0.999000	0.42202	0.719000	0.30619	0.071000	0.16799	3.656000	0.54467	0.801000	0.34066	0.455000	0.32223	.	ANKAR	-	-	ENSG00000151687		0.363	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKAR	HGNC	protein_coding	OTTHUMT00000335045.3	-	0	103	0	T	NM_144708	Intron	190561097	1	tier1	-	no_errors	ENST00000313581	ensembl	human	known	74_37	splice_site	33.96	70	36	SNP	0.909	C	C	190561097	T	C	190561097	5	2	29	1	0	0	0	0	0	0	1	0	623	1652	57	4	1732	4	ANKAR	2	190561097	Splice_Site	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	653601	190561097	52638276	40	7140											
ANKZF1	55139	genome.wustl.edu	37	chr2	220097284	220097284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgcagacactggatcGggagagggctacatttgaga	11	8	15	7	1	0	3	0	1	0	3	1	7	0	5	0	4	2	2	0	4	1	3	rs202012817		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr2:220097284G>T	ENST00000323348.5	+	5	611	c.437G>T	c.(436-438)cGg>cTg	p.R146L	ATG9A_ENST00000361242.4_5'Flank|ATG9A_ENST00000409422.1_5'Flank|ATG9A_ENST00000396761.2_5'Flank|ANKZF1_ENST00000409849.1_5'UTR|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R146L	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	146						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACTGGATCGGGAGAGGGCT	0.507																																																	0													74	75	75					2																	220097284		1917	4115	6032	SO:0001583	missense	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.437G>T	2.37:g.220097284G>T	ENSP00000321617:p.Arg146Leu		Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R146L	ENST00000323348.5	37	c.437	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372859	0.24857	.	.	ENSG00000163516	ENST00000323348;ENST00000453432;ENST00000410034	T;T	0.26660	1.72;1.72	5.53	3.05	0.35203	.	1.013140	0.07863	N	0.966713	T	0.11879	0.0289	N	0.08118	0	0.09310	N	0.999994	B;B	0.20261	0.043;0.0	B;B	0.14023	0.01;0.0	T	0.28713	-1.0035	10	0.27785	T	0.31	-8.0032	3.0115	0.06046	0.6074:0.0:0.2149:0.1777	.	90;146	B4DZT1;Q9H8Y5	.;ANKZ1_HUMAN	L	146;81;146	ENSP00000321617:R146L;ENSP00000386337:R146L	ENSP00000321617:R146L	R	+	2	0	ANKZF1	219805528	0.000000	0.05858	0.789000	0.31954	0.687000	0.40016	0.442000	0.21628	1.124000	0.41980	-0.238000	0.12139	CGG	ANKZF1	-	NULL	ENSG00000163516		0.507	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1		0	38	0	G	NM_018089		220097284	1			no_errors	ENST00000323348	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.663	T	T	220097284	G	T	220097284	3	4	29	1	0	0	0	0	1	0	0	0	693	1116	39	2	451	2	ANKZF1	2	220097284	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	29536187	220097284	23102089	41	7141											
FGD5	152273	genome.wustl.edu	37	chr3	14974654	14974654	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataggtggatcgaggccatgGaagatgcgagtgtgttatag	11	10	16	4	2	0	1	0	0	0	1	1	5	0	3	1	4	1	1	1	4	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:14974654G>T	ENST00000285046.5	+	20	4479	c.4369G>T	c.(4369-4371)Gaa>Taa	p.E1457*	FGD5_ENST00000543601.1_Nonsense_Mutation_p.E1173*|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1457	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CGAGGCCATGGAAGATGCGAG	0.428																																																	0													156	154	155					3																	14974654		1920	4131	6051	SO:0001587	stop_gained	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.4369G>T	3.37:g.14974654G>T	ENSP00000285046:p.Glu1457*		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E1457*	ENST00000285046.5	37	c.4369	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.429618	0.99403	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	.	.	.	5.01	3.92	0.45320	.	0.110878	0.39274	N	0.001401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-24.9078	10.906	0.47079	0.1643:0.0:0.8357:0.0	.	.	.	.	X	1457;1173	.	ENSP00000285046:E1457X	E	+	1	0	FGD5	14949658	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.779000	0.47734	2.299000	0.77371	0.591000	0.81541	GAA	FGD5	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000154783		0.428	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1		0	85	0	G	NM_152536		14974654	1			no_errors	ENST00000285046	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	T	T	14974654	G	T	14974654	4	4	29	1	0	0	0	0	0	1	0	0	5858	1175	41	3	4447	3	FGD5	3	14974654	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		14974654	183047776	42	7142											
NKTR	4820	genome.wustl.edu	37	chr3	42680193	42680193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaagagaaattgaaaggGaaaaaagacaaaaagcataa	25	4	10	2	0	0	4	0	2	0	2	0	6	0	5	0	1	1	1	0	1	9	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:42680193G>T	ENST00000232978.8	+	13	3185	c.2997G>T	c.(2995-2997)ggG>ggT	p.G999G	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	999	Arg/Lys-rich (basic).				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AATTGAAAGGGAAAAAAGACA	0.398																																																	0													61	64	63					3																	42680193		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2997G>T	3.37:g.42680193G>T				Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G999	ENST00000232978.8	37	c.2997	CCDS2702.1	3																																																																																			NKTR	-	NULL	ENSG00000114857		0.398	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2		0	47	0	G	NM_005385		42680193	1			no_errors	ENST00000232978	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T	T	42680193	G	T	42680193	2	4	29	1	0	0	0	0	0	0	0	1	10487	1161	41	3		3	NKTR	3	42680193	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	27705539	42680193	155342237	43	7143											
CGGBP1	8545	genome.wustl.edu	37	chr3	88105058	88105058	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aactcagtgactcgatccagGggagtcacatacaaagcagt	14	7	10	10	1	2	1	2	1	0	0	4	3	3	2	1	2	3	1	1	2	3	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:88105058G>T	ENST00000398392.2	-	1	1401	c.69C>A	c.(67-69)ccC>ccA	p.P23P	CGGBP1_ENST00000462901.1_Silent_p.P23P|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000309534.6_Silent_p.P23P|CGGBP1_ENST00000482016.1_Silent_p.P23P			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	23					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CTCGATCCAGGGGAGTCACAT	0.443																																																	0													105	104	104					3																	88105058		1976	4168	6144	SO:0001819	synonymous_variant	0			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"p20-CGG binding protein"	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.69C>A	3.37:g.88105058G>T			D3DU38|O15183	Silent	SNP	NULL	p.P23	ENST00000398392.2	37	c.69	CCDS43111.1	3																																																																																			CGGBP1	-	NULL	ENSG00000163320		0.443	CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CGGBP1	HGNC	protein_coding	OTTHUMT00000352955.1	-	0	50	0	G	NM_001008390		88105058	-1	tier1	-	no_errors	ENST00000309534	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.990	T	T	88105058	G	T	88105058	2	4	29	1	0	0	0	0	0	0	0	1	3309	1219	43	3		3	CGGBP1	3	88105058	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	45424865	88105058	109917372	44	7144											
HGD	3081	genome.wustl.edu	37	chr3	120365828	120365828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcaccaacctgaatgaCgcagatctcattgggctgta	12	9	8	12	1	2	3	2	2	1	1	3	3	2	3	2	1	1	3	2	1	3	2	rs368256121		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:120365828C>T	ENST00000283871.5	-	8	1000	c.541G>A	c.(541-543)Gtc>Atc	p.V181I		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	181					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ACCTGAATGACGCAGATCTCA	0.468																																																	0			GRCh37	CM002784	HGD	M		C	ILE/VAL	0,4406		0,0,2203	185	160	169		541	6.2	1	3		169	1,8591	1.2+/-3.3	0,1,4295	no	missense	HGD	NM_000187.3	29	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	181/446	120365828	1,12997	2203	4296	6499	SO:0001583	missense	0				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"homogentisate oxidase"	607474	"homogentisate 1,2-dioxygenase (homogentisate oxidase)"	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.541G>A	3.37:g.120365828C>T	ENSP00000283871:p.Val181Ile		A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.V181I	ENST00000283871.5	37	c.541	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006791	0.93287	0.0	1.16E-4	ENSG00000113924	ENST00000283871;ENST00000476082	D;D	0.99201	-5.55;-5.55	6.17	6.17	0.99709	Cupin, RmlC-type (1);	0.057046	0.64402	D	0.000001	D	0.97529	0.9191	L	0.56769	1.78	0.80722	D	1	P	0.38992	0.653	B	0.30316	0.114	D	0.97305	0.9933	10	0.45353	T	0.12	-13.3866	18.3732	0.90420	0.0:1.0:0.0:0.0	.	181	Q93099	HGD_HUMAN	I	181;140	ENSP00000283871:V181I;ENSP00000419560:V140I	ENSP00000283871:V181I	V	-	1	0	HGD	121848518	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.347000	0.65998	2.941000	0.99782	0.655000	0.94253	GTC	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	ENSG00000113924		0.468	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	-	0	73	0	C			120365828	-1	tier1	-	no_errors	ENST00000283871	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	120365828	C	T	120365828	3	4	29	1	0	0	0	0	1	0	0	0	7111	536	19	1	824	1	HGD	3	120365828	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	32260770	120365828	77656602	45	7145											
COL6A5	256076	genome.wustl.edu	37	chr3	130124985	130124985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctctcagggaggtcatgGagacgatgggattgatggac	10	9	15	7	1	3	2	2	1	1	1	4	7	3	5	0	5	0	0	0	5	0	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:130124985G>T	ENST00000432398.2	+	16	4885	c.4391G>T	c.(4390-4392)gGa>gTa	p.G1464V	COL6A5_ENST00000265379.6_Missense_Mutation_p.G1464V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1464	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGGTCATGGAGACGATGGG	0.403																																																	0													157	125	135					3																	130124985		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4391G>T	3.37:g.130124985G>T	ENSP00000390895:p.Gly1464Val		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1464V	ENST00000432398.2	37	c.4391		3	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244970	0.22796	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.99637	-5.77;-6.29	5.86	4.98	0.66077	.	.	.	.	.	D	0.99764	0.9904	H	0.96398	3.815	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.96936	0.9684	9	0.87932	D	0	.	15.9745	0.80049	0.0:0.1353:0.8647:0.0	.	1464	A8TX70-2	.	V	1464	ENSP00000390895:G1464V;ENSP00000265379:G1464V	ENSP00000265379:G1464V	G	+	2	0	COL6A5	131607675	1.000000	0.71417	0.550000	0.28217	0.010000	0.07245	4.164000	0.58190	1.465000	0.48006	0.650000	0.86243	GGA	COL6A5	-	pfam_Collagen	ENSG00000172752		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	116	0	G	NM_153264		130124985	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.983	T	T	130124985	G	T	130124985	3	4	29	1	0	0	0	0	1	0	0	0	3709	1174	41	3	4449	3	COL6A5	3	130124985	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	9759157	130124985	67897445	46	7146											
DNAJC13	23317	genome.wustl.edu	37	chr3	132222104	132222104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtccatgctctgagtcGccttggagggtatttggctg	5	13	15	8	1	1	1	0	1	1	0	3	3	2	2	2	3	1	3	2	3	1	3	rs145101163	byFrequency	TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:132222104G>T	ENST00000260818.6	+	41	5011	c.4763G>T	c.(4762-4764)cGc>cTc	p.R1588L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1588					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCTCTGAGTCGCCTTGGAGGG	0.403																																																	0													80	78	79					3																	132222104		2203	4300	6503	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4763G>T	3.37:g.132222104G>T	ENSP00000260818:p.Arg1588Leu		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.R1588L	ENST00000260818.6	37	c.4763	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218875	0.79464	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.20463	2.07	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	M	0.76574	2.34	0.80722	D	1	D	0.57899	0.981	P	0.47206	0.541	T	0.13495	-1.0507	10	0.41790	T	0.15	.	19.3832	0.94545	0.0:0.0:1.0:0.0	.	1588	O75165	DJC13_HUMAN	L	1588;235	ENSP00000260818:R1588L	ENSP00000260818:R1588L	R	+	2	0	DNAJC13	133704794	1.000000	0.71417	0.997000	0.53966	0.862000	0.49288	9.310000	0.96267	2.587000	0.87381	0.555000	0.69702	CGC	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.403	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2		0	52	0	G	NM_015268		132222104	1			no_errors	ENST00000260818	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	132222104	G	T	132222104	3	4	29	1	0	0	0	0	1	0	0	0	4646	1087	38	2	4921	2	DNAJC13	3	132222104	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	2097119	132222104	65800326	47	7147											
STAG1	10274	genome.wustl.edu	37	chr3	136082262	136082262	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaattttatcaatctgcctGgttttactcagtgtttcctt	7	20	6	8	0	3	1	2	1	1	0	4	1	4	1	2	1	2	2	2	1	4	6	rs145404587	byFrequency	TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:136082262G>T	ENST00000383202.2	-	26	2989	c.2733C>A	c.(2731-2733)acC>acA	p.T911T	STAG1_ENST00000434713.2_Intron|STAG1_ENST00000236698.5_Silent_p.T911T|STAG1_ENST00000536929.1_Silent_p.T495T	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	911					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CAATCTGCCTGGTTTTACTCA	0.343																																																	0								G		5,4401	9.9+/-24.2	0,5,2198	172	163	166		2733	1	1	3	dbSNP_134	166	0,8600		0,0,4300	no	coding-synonymous	STAG1	NM_005862.2		0,5,6498	TT,TG,GG		0.0,0.1135,0.0384		911/1259	136082262	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2733C>A	3.37:g.136082262G>T			O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.T911	ENST00000383202.2	37	c.2733	CCDS3090.1	3																																																																																			STAG1	-	NULL	ENSG00000118007		0.343	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	-	0	98	0	G	NM_005862		136082262	-1	tier1	rs145404587	no_errors	ENST00000383202	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	T	T	136082262	G	T	136082262	2	4	29	1	0	0	0	0	0	0	0	1	15289	1335	47	3		3	STAG1	3	136082262	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	3860158	136082262	61940168	48	7148											
EIF4G1	1981	genome.wustl.edu	37	chr3	184040687	184040687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggttttcagttcatctttgCcagtatgcagaagccagagg	9	13	11	8	0	3	2	2	0	1	2	3	2	3	2	2	2	3	4	2	2	2	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr3:184040687C>T	ENST00000346169.2	+	13	2145	c.1874C>T	c.(1873-1875)gCc>gTc	p.A625V	EIF4G1_ENST00000382330.3_Missense_Mutation_p.A632V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A585V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A538V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A461V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A538V|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A461V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A625V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A429V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A632V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A632V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A625V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A585V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A429V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	625	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.			AS -> CQ (in Ref. 1; BAA02185). {ECO:0000305}.	cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCATCTTTGCCAGTATGCAG	0.478																																																	0													198	186	190					3																	184040687		2203	4300	6503	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1874C>T	3.37:g.184040687C>T	ENSP00000316879:p.Ala625Val		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.A632V	ENST00000346169.2	37	c.1895	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693144	0.68271	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	M	0.68728	2.09	0.80722	D	1	P;B;B;B	0.41131	0.739;0.199;0.199;0.199	B;B;B;B	0.38803	0.282;0.049;0.049;0.049	T	0.56938	-0.7896	10	0.39692	T	0.17	-12.7233	19.3711	0.94488	0.0:1.0:0.0:0.0	.	632;625;625;632	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	V	625;585;538;625;632;632;566;461;632;538;625;625;632;585;461;461;429;429	ENSP00000316879:A625V;ENSP00000391935:A585V;ENSP00000376320:A538V;ENSP00000391412:A625V;ENSP00000413159:A632V;ENSP00000371767:A632V;ENSP00000403269:A566V;ENSP00000317600:A461V;ENSP00000338020:A632V;ENSP00000407682:A538V;ENSP00000343450:A625V;ENSP00000323737:A625V;ENSP00000416255:A632V;ENSP00000395974:A585V;ENSP00000398145:A461V;ENSP00000399858:A461V;ENSP00000411826:A429V;ENSP00000404754:A429V	ENSP00000323737:A625V	A	+	2	0	EIF4G1	185523381	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.320000	0.79064	2.814000	0.96858	0.563000	0.77884	GCC	EIF4G1	-	NULL	ENSG00000114867		0.478	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	-	0	65	0	C	NM_182917		184040687	1	tier1	-	no_errors	ENST00000352767	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	184040687	C	T	184040687	3	4	29	1	0	0	0	0	1	0	0	0	5052	739	26	3	1916	3	EIF4G1	3	184040687	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	47958425	184040687	13981743	49	7149											
WHSC1	7468	genome.wustl.edu	37	chr4	1952910	1952910	+	Frame_Shift_Del	DEL	A	A	-																															ctgagcgaggagtgactgccAaaaaggagtatgtgtgccag																										TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:1952910delA	ENST00000382895.3	+	12	2424	c.1993delA	c.(1993-1995)aaafs	p.K666fs	WHSC1_ENST00000382891.5_Frame_Shift_Del_p.K666fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Frame_Shift_Del_p.K666fs|WHSC1_ENST00000382888.3_5'Flank|WHSC1_ENST00000382892.2_Frame_Shift_Del_p.K666fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	666					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AGTGACTGCCAAAAAGGAGTA	0.547			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													137	113	121					4																	1952910		2203	4300	6503	SO:0001589	frameshift_variant	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1993delA	4.37:g.1952910delA	ENSP00000372351:p.Lys666fs		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Del	DEL	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.K666fs	ENST00000382895.3	37	c.1993	CCDS33940.1	4																																																																																			WHSC1	-	superfamily_Znf_FYVE_PHD	ENSG00000109685		0.547	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2		0	65	0	A	NM_133330		1952910	1	tier1		no_errors	ENST00000382891	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	1.000	-	-	1952910	A	-	1952910	7	5	29	1	0	1	0	1	0	0	0	0	17411	131	5	0	2103	0	WHSC1	4	1952910	Frame_Shift_Del	DEL	A	TCGA-IG-A6QS-01A-12D-A33E-09		1952910	189201366	50	7150											
BOD1L	259282	genome.wustl.edu	37	chr4	13590354	13590354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaaaatgcacctctttagGatctgcttcaacactgtgac	12	13	6	10	0	3	1	1	1	2	0	3	2	3	2	1	1	3	2	1	1	4	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:13590354G>T	ENST00000040738.5	-	15	8407	c.8272C>A	c.(8272-8274)Cct>Act	p.P2758T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2758						nucleus (GO:0005634)	DNA binding (GO:0003677)										ACCTCTTTAGGATCTGCTTCA	0.313																																																	0													56	55	55					4																	13590354		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8272C>A	4.37:g.13590354G>T	ENSP00000040738:p.Pro2758Thr		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.P2758T	ENST00000040738.5	37	c.8272	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	3.553	-0.091236	0.07053	.	.	ENSG00000038219	ENST00000040738	T	0.06687	3.27	4.69	0.981	0.19756	.	0.494799	0.18830	N	0.129985	T	0.06371	0.0164	L	0.32530	0.975	0.20764	N	0.999859	B	0.24618	0.107	B	0.25759	0.063	T	0.32322	-0.9911	10	0.42905	T	0.14	-1.5407	7.2774	0.26292	0.3814:0.0:0.6186:0.0	.	2758	Q8NFC6	BOD1L_HUMAN	T	2758	ENSP00000040738:P2758T	ENSP00000040738:P2758T	P	-	1	0	BOD1L	13199452	0.001000	0.12720	0.171000	0.22900	0.080000	0.17528	0.211000	0.17474	0.019000	0.15079	-0.140000	0.14226	CCT	BOD1L1	-	NULL	ENSG00000038219		0.313	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	55	0	G	NM_148894		13590354	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.300	T	T	13590354	G	T	13590354	3	4	29	1	0	0	0	0	1	0	0	0	1485	1174	41	3	931	3	BOD1L	4	13590354	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	11637444	13590354	177563922	51	7151											
KLB	152831	genome.wustl.edu	37	chr4	39450067	39450067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaaagtgatcagcagcaggGgcttcccttttgagaacagt	12	9	11	9	0	1	2	1	2	0	1	2	3	2	2	1	2	3	3	1	2	2	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:39450067G>T	ENST00000257408.4	+	5	2993	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	966	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAGCAGCAGGGGCTTCCCTTT	0.393																																																	0													74	75	75					4																	39450067		2203	4300	6503	SO:0001583	missense	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2896G>T	4.37:g.39450067G>T	ENSP00000257408:p.Gly966Cys		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G966C	ENST00000257408.4	37	c.2896	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985728	0.74589	.	.	ENSG00000134962	ENST00000257408	T	0.35973	1.28	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.048077	0.85682	D	0.000000	T	0.65626	0.2709	M	0.81942	2.565	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68239	-0.5461	10	0.87932	D	0	-25.4888	20.0143	0.97474	0.0:0.0:1.0:0.0	.	957;966	B7ZL50;Q86Z14	.;KLOTB_HUMAN	C	966	ENSP00000257408:G966C	ENSP00000257408:G966C	G	+	1	0	KLB	39126462	1.000000	0.71417	0.965000	0.40720	0.533000	0.34776	7.396000	0.79891	2.740000	0.93945	0.313000	0.20887	GGC	KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000134962		0.393	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	-	0	74	0	G	NM_175737		39450067	1	tier1	-	no_errors	ENST00000257408	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	39450067	G	T	39450067	3	4	29	1	0	0	0	0	1	0	0	0	8359	1232	43	3	2914	3	KLB	4	39450067	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	25859713	39450067	151704209	52	7152											
CWH43	80157	genome.wustl.edu	37	chr4	48994050	48994050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctggagttatcagatgTccaacaaagtgatactgaca	15	10	8	8	0	2	3	1	2	1	1	3	4	3	4	1	1	2	1	1	1	5	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:48994050T>C	ENST00000226432.4	+	4	637	c.454T>C	c.(454-456)Tcc>Ccc	p.S152P	CWH43_ENST00000513409.1_Missense_Mutation_p.S125P	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	152					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTATCAGATGTCCAACAAAGT	0.393																																																	0													185	165	172					4																	48994050		2203	4300	6503	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.454T>C	4.37:g.48994050T>C	ENSP00000226432:p.Ser152Pro		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.S152P	ENST00000226432.4	37	c.454	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014347	0.35511	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.46451	1.47;0.87	5.24	1.4	0.22301	.	0.479462	0.19550	N	0.111582	T	0.33411	0.0862	L	0.56769	1.78	0.23568	N	0.9974	B	0.06786	0.001	B	0.09377	0.004	T	0.19910	-1.0291	9	.	.	.	.	6.7564	0.23516	0.0:0.0997:0.3767:0.5235	.	152	Q9H720	PG2IP_HUMAN	P	152;125	ENSP00000226432:S152P;ENSP00000422802:S125P	.	S	+	1	0	CWH43	48688807	0.588000	0.26799	0.841000	0.33234	0.931000	0.56810	0.051000	0.14141	0.431000	0.26258	0.402000	0.26972	TCC	CWH43	-	NULL	ENSG00000109182		0.393	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	-	0	65	0	T	NM_025087		48994050	1	tier1	-	no_errors	ENST00000226432	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.365	C	C	48994050	T	C	48994050	3	2	29	1	0	0	0	0	1	0	0	0	4082	1667	58	4	468	4	CWH43	4	48994050	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	9543983	48994050	142160226	53	7153											
ABCG2	9429	genome.wustl.edu	37	chr4	89042819	89042819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggacagcatttgctgtGcttgagtctaagccagttgt	11	12	11	7	0	1	1	0	1	1	0	1	2	1	2	1	1	4	4	1	1	3	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:89042819G>T	ENST00000237612.3	-	6	1202	c.657C>A	c.(655-657)agC>agA	p.S219R	ABCG2_ENST00000515655.1_Missense_Mutation_p.S219R	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	219	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	CATTTGCTGTGCTTGAGTCTA	0.398																																																	0													110	103	106					4																	89042819		2203	4300	6503	SO:0001583	missense	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.657C>A	4.37:g.89042819G>T	ENSP00000237612:p.Ser219Arg		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S219R	ENST00000237612.3	37	c.657	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001716	0.35320	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.41065	1.01;1.01	5.54	2.86	0.33363	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	N	0.05608	-0.01	0.51767	D	0.999935	P;P;B	0.39847	0.691;0.691;0.312	B;B;B	0.40038	0.317;0.259;0.126	T	0.08680	-1.0710	10	0.44086	T	0.13	-13.0509	10.8369	0.46692	0.2003:0.0:0.7997:0.0	.	219;219;219	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	R	219	ENSP00000426917:S219R;ENSP00000237612:S219R	ENSP00000237612:S219R	S	-	3	2	ABCG2	89261843	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	2.179000	0.42528	1.354000	0.45846	0.650000	0.86243	AGC	ABCG2	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000118777		0.398	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	-	0	62	0	G	NM_004827		89042819	-1	tier1	-	no_errors	ENST00000237612	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	89042819	G	T	89042819	3	4	29	1	0	0	0	0	1	0	0	0	69	1310	46	3	1354	3	ABCG2	4	89042819	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	40048769	89042819	102111457	54	7154											
GRID2	2895	genome.wustl.edu	37	chr4	94159522	94159522	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtatctgttctctcctttagGgtggagttagtgggttgact	5	17	13	6	0	2	1	0	1	2	0	4	2	3	2	1	3	0	4	1	3	3	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:94159522G>T	ENST00000282020.4	+	8	1384	c.1126G>T	c.(1126-1128)Ggt>Tgt	p.G376C	GRID2_ENST00000510992.1_Splice_Site_p.G281C	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	376					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCTCCTTTAGGGTGGAGTTAG	0.353																																																	0													73	73	73					4																	94159522		2203	4299	6502	SO:0001630	splice_region_variant	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1126-1G>T	4.37:g.94159522G>T			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G376C	ENST00000282020.4	37	c.1126	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610899	0.87258	.	.	ENSG00000152208	ENST00000282020;ENST00000510992;ENST00000512631	D;D;D	0.83335	-1.71;-1.71;-1.71	6.03	6.03	0.97812	Extracellular ligand-binding receptor (1);	0.121322	0.53938	D	0.000051	D	0.88669	0.6499	L	0.43923	1.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.86144	0.1583	9	.	.	.	.	20.1857	0.98214	0.0:0.0:1.0:0.0	.	281;376;281	E9PH24;O43424;Q4KKU8	.;GRID2_HUMAN;.	C	376;281;57	ENSP00000282020:G376C;ENSP00000421257:G281C;ENSP00000423331:G57C	.	G	+	1	0	GRID2	94378545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.456000	0.73501	2.868000	0.98415	0.557000	0.71058	GGT	GRID2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152208		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2		0	74	0	G		Missense_Mutation	94159522	1			no_errors	ENST00000282020	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	94159522	G	T	94159522	5	4	29	1	0	0	0	0	0	0	1	0	6799	1246	43	3	1156	3	GRID2	4	94159522	Splice_Site	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	5116703	94159522	96994754	55	7155											
MTTP	4547	genome.wustl.edu	37	chr4	100534268	100534268	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctatcagtgtggtgaaaGgacttattctgctaatagat	12	13	9	7	0	2	2	1	1	1	1	2	3	2	3	1	2	1	1	1	2	5	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:100534268G>T	ENST00000265517.5	+	15	2391	c.2188G>T	c.(2188-2190)Gga>Tga	p.G730*	MTTP_ENST00000457717.1_Nonsense_Mutation_p.G730*|MTTP_ENST00000511045.1_Nonsense_Mutation_p.G757*|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	730					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TGTGGTGAAAGGACTTATTCT	0.403																																																	0													127	115	119					4																	100534268		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2188G>T	4.37:g.100534268G>T	ENSP00000265517:p.Gly730*		A8K428|Q08AM4|Q6P5T3	Nonsense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G730*	ENST00000265517.5	37	c.2188	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	G	42	9.679725	0.99237	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	.	.	.	5.49	5.49	0.81192	.	0.048648	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-6.5376	19.349	0.94376	0.0:0.0:1.0:0.0	.	.	.	.	X	757;730;730	.	ENSP00000265517:G730X	G	+	1	0	MTTP	100753291	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.307000	0.96226	2.581000	0.87130	0.585000	0.79938	GGA	MTTP	-	NULL	ENSG00000138823		0.403	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3		0	41	0	G			100534268	1			no_errors	ENST00000265517	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	1.000	T	T	100534268	G	T	100534268	4	4	29	1	0	0	0	0	0	1	0	0	10002	1001	35	3	2246	3	MTTP	4	100534268	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	6374746	100534268	90620008	56	7156											
SEC24B	10427	genome.wustl.edu	37	chr4	110402835	110402835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttccactttacaggcGtgcagtatggtgaatatgtt	8	15	11	7	1	0	1	0	1	0	0	1	1	1	1	1	2	3	4	1	2	4	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:110402835G>T	ENST00000265175.5	+	4	1118	c.1063G>T	c.(1063-1065)Gtg>Ttg	p.V355L	SEC24B_ENST00000399100.2_Intron|SEC24B_ENST00000504968.2_Missense_Mutation_p.V386L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	355					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.V355M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTTACAGGCGTGCAGTATGG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											200	188	192					4																	110402835		1931	4155	6086	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1063G>T	4.37:g.110402835G>T	ENSP00000265175:p.Val355Leu		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.V355L	ENST00000265175.5	37	c.1063	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	G	8.678	0.904527	0.17760	.	.	ENSG00000138802	ENST00000504968;ENST00000265175	T;T	0.76968	-0.89;-1.06	5.56	3.07	0.35406	.	0.688387	0.14930	N	0.290132	T	0.54615	0.1869	N	0.08118	0	0.22127	N	0.999348	B;B	0.13594	0.008;0.003	B;B	0.09377	0.004;0.004	T	0.30238	-0.9985	10	0.08837	T	0.75	-8.8589	10.3278	0.43805	0.8649:0.0:0.1351:0.0	.	386;355	B7ZKM8;O95487	.;SC24B_HUMAN	L	386;355	ENSP00000428564:V386L;ENSP00000265175:V355L	ENSP00000265175:V355L	V	+	1	0	SEC24B	110622284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.609000	0.54117	0.373000	0.24621	-0.295000	0.09555	GTG	SEC24B	-	NULL	ENSG00000138802		0.413	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2		0	38	0	G			110402835	1			no_errors	ENST00000265175	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	110402835	G	T	110402835	3	4	29	1	0	0	0	0	1	0	0	0	14040	1145	40	2	1077	2	SEC24B	4	110402835	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	9868567	110402835	80751441	57	7157											
SPRY1	10252	genome.wustl.edu	37	chr4	124323397	124323397	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgctgagagcatggtggaAtatggaacctgcatgtgctt	9	12	13	7	0	1	1	0	1	1	1	1	4	1	3	1	3	5	4	1	3	3	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:124323397A>G	ENST00000394339.2	+	2	991	c.651A>G	c.(649-651)gaA>gaG	p.E217E	SPRY1_ENST00000339241.1_Silent_p.E217E	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	217	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GCATGGTGGAATATGGAACCT	0.512																																																	0													224	186	199					4																	124323397		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.651A>G	4.37:g.124323397A>G			D3DNX6|Q6PNE0	Silent	SNP	pfam_Sprouty	p.E217	ENST00000394339.2	37	c.651	CCDS3731.1	4																																																																																			SPRY1	-	pfam_Sprouty	ENSG00000164056		0.512	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	HGNC	protein_coding	OTTHUMT00000256711.1	-	0	58	0	A			124323397	1	tier1	-	no_errors	ENST00000339241	ensembl	human	known	74_37	silent	33.33	34	17	SNP	0.696	G	G	124323397	A	G	124323397	2	3	29	1	0	0	0	0	0	0	0	1	15152	98	4	4		4	SPRY1	4	124323397	Silent	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	13920562	124323397	66830879	58	7158											
LRBA	987	genome.wustl.edu	37	chr4	151247051	151247051	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatttgagcttcaacagcCtgaaaagggcaggggcaagt	12	7	14	8	1	1	2	1	2	0	0	1	3	1	3	1	4	3	3	1	4	4	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr4:151247051C>A	ENST00000357115.3	-	50	7639		c.e50-1		LRBA_ENST00000535741.1_Splice_Site|LRBA_ENST00000507224.1_Splice_Site|LRBA_ENST00000510413.1_Splice_Site|LRBA_ENST00000503716.1_Splice_Site	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTCAACAGCCTGAAAAGGGC	0.463																																																	0													75	70	72					4																	151247051		2203	4300	6503	SO:0001630	splice_region_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7396-1G>T	4.37:g.151247051C>A			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Splice_Site	SNP	-	e49-1	ENST00000357115.3	37	c.7396-1	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035913	0.75617	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000509835;ENST00000507224	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRBA	151466501	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	7.770000	0.85390	2.826000	0.97356	0.655000	0.94253	.	LRBA	-	-	ENSG00000198589		0.463	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	62	0	C		Intron	151247051	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	splice_site	5.80	64	4	SNP	1.000	A	A	151247051	C	A	151247051	5	1	29	1	0	0	0	0	0	0	1	0	8966	695	24	3	1232	3	LRBA	4	151247051	Splice_Site	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	26923654	151247051	39907225	59	7159											
HSPB3	8988	genome.wustl.edu	37	chr5	53751911	53751911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggctggctgctgataaaaGcacaacacggaaccagaatg	16	5	11	9	1	0	2	0	1	0	1	0	3	0	3	1	3	4	4	1	3	6	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr5:53751911G>T	ENST00000302005.1	+	1	467	c.292G>T	c.(292-294)Gca>Tca	p.A98S		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	98					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				GCTGATAAAAGCACAACACGG	0.483																																																	0													122	113	116					5																	53751911		2203	4300	6503	SO:0001583	missense	0			Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"Heat shock proteins / HSPB"	5248	protein-coding gene	gene with protein product		604624	"heat shock 27kD protein 3"			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.292G>T	5.37:g.53751911G>T	ENSP00000303394:p.Ala98Ser			Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.A98S	ENST00000302005.1	37	c.292	CCDS3961.1	5	.	.	.	.	.	.	.	.	.	.	G	17.78	3.472420	0.63737	.	.	ENSG00000169271	ENST00000302005	D	0.91740	-2.9	5.67	5.67	0.87782	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.068270	0.56097	D	0.000039	D	0.95768	0.8623	M	0.71920	2.185	0.45791	D	0.998679	D	0.69078	0.997	D	0.68353	0.957	D	0.95804	0.8835	10	0.87932	D	0	-16.3835	19.7612	0.96319	0.0:0.0:1.0:0.0	.	98	Q12988	HSPB3_HUMAN	S	98	ENSP00000303394:A98S	ENSP00000303394:A98S	A	+	1	0	HSPB3	53787668	1.000000	0.71417	0.373000	0.26003	0.047000	0.14425	7.692000	0.84203	2.646000	0.89796	0.655000	0.94253	GCA	HSPB3	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	ENSG00000169271		0.483	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB3	HGNC	protein_coding	OTTHUMT00000214074.2	-	0	58	0	G			53751911	1	tier1	-	no_errors	ENST00000302005	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	53751911	G	T	53751911	3	4	29	1	0	0	0	0	1	0	0	0	7448	971	34	3	294	3	HSPB3	5	53751911	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		53751911	127163349	60	7160											
JMY	133746	genome.wustl.edu	37	chr5	78573804	78573804	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagatggaggatgaagcCtacagcagccttgcagaagc	13	7	12	9	0	1	3	1	1	0	2	1	5	1	5	2	2	6	2	2	2	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr5:78573804C>A	ENST00000396137.4	+	2	1566	c.1104C>A	c.(1102-1104)gcC>gcA	p.A368A		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	368					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		AGGATGAAGCCTACAGCAGCC	0.458																																																	0													119	114	116					5																	78573804		1922	4132	6054	SO:0001819	synonymous_variant	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1104C>A	5.37:g.78573804C>A			A1L4P5|B5MDS2|B5MDT0	Silent	SNP	pfscan_WH2_dom	p.A368	ENST00000396137.4	37	c.1104	CCDS4047.3	5																																																																																			JMY	-	NULL	ENSG00000152409		0.458	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	-	0	62	0	C	NM_152405		78573804	1	tier1	-	no_errors	ENST00000396137	ensembl	human	known	74_37	silent	71.70	15	38	SNP	0.995	A	A	78573804	C	A	78573804	2	1	29	1	0	0	0	0	0	0	0	1	7984	668	24	3		3	JMY	5	78573804	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	24821893	78573804	102341456	61	7161											
MEGF10	84466	genome.wustl.edu	37	chr5	126792991	126792991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtagcagcagcaacaGcagcagcagcagtgaatgac	13	5	14	9	0	0	2	0	2	0	0	0	2	0	2	0	2	8	8	0	2	3	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr5:126792991G>A	ENST00000274473.6	+	26	3671	c.3404G>A	c.(3403-3405)aGc>aAc	p.S1135N	MEGF10_ENST00000503335.2_Missense_Mutation_p.S1135N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1135	Necessary for formation of large intracellular vacuoles.|Ser-rich.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		agcagcaacagcagcagcagc	0.512																																																	0													71	59	63					5																	126792991		2203	4300	6503	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.3404G>A	5.37:g.126792991G>A	ENSP00000274473:p.Ser1135Asn		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.S1135N	ENST00000274473.6	37	c.3404	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290530	0.23564	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.80738	-1.41;-1.41	4.95	4.95	0.65309	.	0.257682	0.28016	N	0.016930	T	0.60314	0.2259	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.16722	0.016	T	0.47761	-0.9092	10	0.30854	T	0.27	-4.6999	8.9521	0.35796	0.0:0.1456:0.6043:0.2501	.	1135	Q96KG7	MEG10_HUMAN	N	1135	ENSP00000423354:S1135N;ENSP00000274473:S1135N	ENSP00000274473:S1135N	S	+	2	0	MEGF10	126820890	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	2.337000	0.43947	2.679000	0.91253	0.650000	0.86243	AGC	MEGF10	-	NULL	ENSG00000145794		0.512	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2		0	47	0	G	NM_032446		126792991	1			no_errors	ENST00000274473	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.251	A	A	126792991	G	A	126792991	3	1	29	1	0	0	0	0	1	0	0	0	9498	971	34	3	3498	3	MEGF10	5	126792991	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	48219187	126792991	54122269	62	7162											
PCDHB12	56124	genome.wustl.edu	37	chr5	140589130	140589130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcactgctctggatggCgggtcccctcccaggtctgg	4	10	12	15	1	3	0	1	0	2	0	6	1	6	1	4	5	1	1	4	5	0	0	rs561631495		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr5:140589130C>T	ENST00000239450.2	+	1	840	c.651C>T	c.(649-651)ggC>ggT	p.G217G	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGGATGGCGGGTCCCCTC	0.507													C|||	1	0.000199681	8e-04	0	5008	,	,		16472	0		0	False		,,,				2504	0																0													66	67	67					5																	140589130		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.651C>T	5.37:g.140589130C>T			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G217	ENST00000239450.2	37	c.651	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.507	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2		0	55	0	C	NM_018932		140589130	1			no_errors	ENST00000239450	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.076	T	T	140589130	C	T	140589130	2	4	29	1	0	0	0	0	0	0	0	1	11576	755	27	1		1	PCDHB12	5	140589130	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	13796139	140589130	40326130	63	7163											
PGBD1	84547	genome.wustl.edu	37	chr6	28264626	28264626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggaagaaacagcccagGccgttgctgcagagaagtgg	12	5	15	9	1	0	3	0	1	0	2	0	5	0	4	2	3	4	3	2	3	3	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr6:28264626G>T	ENST00000405948.2	+	5	1096	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S	PGBD1_ENST00000259883.3_Missense_Mutation_p.A226S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	226						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AACAGCCCAGGCCGTTGCTGC	0.463																																																	0													111	104	106					6																	28264626		2203	4300	6503	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.676G>T	6.37:g.28264626G>T	ENSP00000385213:p.Ala226Ser		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.A226S	ENST00000405948.2	37	c.676	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	5.173	0.217534	0.09810	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01279	5.06;5.06	3.95	1.09	0.20402	.	1.148070	0.06865	N	0.799803	T	0.00300	0.0009	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42207	-0.9465	10	0.06365	T	0.9	-6.0791	2.4585	0.04535	0.1073:0.1904:0.5059:0.1964	.	226	Q96JS3	PGBD1_HUMAN	S	226	ENSP00000385213:A226S;ENSP00000259883:A226S	ENSP00000259883:A226S	A	+	1	0	PGBD1	28372605	0.015000	0.18098	0.001000	0.08648	0.458000	0.32498	0.581000	0.23819	0.213000	0.20722	0.655000	0.94253	GCC	PGBD1	-	superfamily_Krueppel-associated_box	ENSG00000137338		0.463	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2		0	74	0	G			28264626	1			no_errors	ENST00000259883	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.001	T	T	28264626	G	T	28264626	3	4	29	1	0	0	0	0	1	0	0	0	11819	1203	42	3	690	3	PGBD1	6	28264626	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		28264626	142850441	64	7164											
SCAND3	114821	genome.wustl.edu	37	chr6	28542921	28542921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttcagagctaaatgcacTttcacatggagtctgttgca	11	12	9	9	0	3	1	2	0	1	1	3	2	3	2	0	1	4	5	0	1	2	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr6:28542921T>C	ENST00000452236.2	-	3	2178	c.1561A>G	c.(1561-1563)Agt>Ggt	p.S521G	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTAAATGCACTTTCACATGGA	0.423																																																	0													130	127	128					6																	28542921		2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.1561A>G	6.37:g.28542921T>C	ENSP00000395259:p.Ser521Gly			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.S521G	ENST00000452236.2	37	c.1561	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.608830	0.00842	.	.	ENSG00000232040	ENST00000452236	T	0.41758	0.99	3.28	1.2	0.21068	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.03263	0.0095	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42832	-0.9428	9	0.22706	T	0.39	.	4.4098	0.11427	0.0:0.6093:0.0:0.3907	.	521	Q6R2W3	SCND3_HUMAN	G	521	ENSP00000395259:S521G	ENSP00000395259:S521G	S	-	1	0	SCAND3	28650900	0.026000	0.19158	0.015000	0.15790	0.568000	0.35870	0.249000	0.18216	0.577000	0.29470	0.379000	0.24179	AGT	SCAND3	-	superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	ENSG00000232040		0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3		0	14	0	T			28542921	-1			no_errors	ENST00000452236	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.015	C	C	28542921	T	C	28542921	3	2	29	1	0	0	0	0	1	0	0	0	13921	1609	56	4	2424	4	SCAND3	6	28542921	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	278295	28542921	142572146	65	7165											
GPR116	221395	genome.wustl.edu	37	chr6	46851853	46851853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcctgaagcaggcaaaaagGtccattgggaggcagttctt	11	10	12	8	0	1	1	0	1	1	0	3	2	3	2	2	4	1	4	2	4	3	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr6:46851853G>T	ENST00000283296.7	-	5	772	c.484C>A	c.(484-486)Cct>Act	p.P162T	GPR116_ENST00000362015.4_Missense_Mutation_p.P162T|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.P162T|GPR116_ENST00000265417.7_Missense_Mutation_p.P162T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	162					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGGCAAAAAGGTCCATTGGGA	0.493																																					NSCLC(59;410 1274 8751 36715 50546)												0													125	113	117					6																	46851853		2203	4300	6503	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.484C>A	6.37:g.46851853G>T	ENSP00000283296:p.Pro162Thr		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.P162T	ENST00000283296.7	37	c.484	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434724	0.25813	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.27256	1.74;2.11;1.68;1.74	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000016	T	0.33818	0.0876	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.74674	0.984;0.953;0.984	T	0.02288	-1.1182	10	0.22109	T	0.4	-7.5711	14.5188	0.67838	0.0:0.0:1.0:0.0	.	162;162;162	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	T	162	ENSP00000283296:P162T;ENSP00000354563:P162T;ENSP00000412866:P162T;ENSP00000265417:P162T	ENSP00000265417:P162T	P	-	1	0	GPR116	46959812	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	4.396000	0.59684	2.572000	0.86782	0.655000	0.94253	CCT	GPR116	-	prints_GPCR_2_Ig-hepta_rcpt	ENSG00000069122		0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	-	0	48	0	G	NM_015234		46851853	-1	tier1	-	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	46851853	G	T	46851853	3	4	29	1	0	0	0	0	1	0	0	0	6659	1261	44	3	3624	3	GPR116	6	46851853	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	18308932	46851853	124263214	66	7166											
EYS	346007	genome.wustl.edu	37	chr6	64791750	64791750	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacatttaatactcactGtaaagaatagttccatttaa	17	14	3	7	0	2	1	2	0	0	1	3	1	3	1	1	0	2	2	1	0	8	8			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr6:64791750G>T	ENST00000370621.3	-	32	7096	c.6570C>A	c.(6568-6570)taC>taA	p.Y2190*	EYS_ENST00000370616.2_Splice_Site_p.Y2190*|EYS_ENST00000503581.1_Splice_Site_p.Y2190*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2190	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATACTCACTGTAAAGAATAG	0.299																																																	0													132	130	131					6																	64791750		692	1587	2279	SO:0001630	splice_region_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6571+1C>A	6.37:g.64791750G>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Y2190*	ENST00000370621.3	37	c.6570		6	.	.	.	.	.	.	.	.	.	.	G	46	12.348750	0.99659	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.52	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3312	0.32187	0.1591:0.1703:0.6707:0.0	.	.	.	.	X	2190	.	ENSP00000359650:Y2190X	Y	-	3	2	EYS	64849709	1.000000	0.71417	0.970000	0.41538	0.735000	0.41995	2.647000	0.46639	0.527000	0.28560	0.655000	0.94253	TAC	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.299	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	71	0	G	XM_294050	Nonsense_Mutation	64791750	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	nonsense	38.37	51	33	SNP	0.998	T	T	64791750	G	T	64791750	5	4	29	1	0	0	0	0	0	0	1	0	5348	1391	48	3	2912	3	EYS	6	64791750	Splice_Site	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	17939897	64791750	106323317	67	7167											
CTAGE9	643854	genome.wustl.edu	37	chr6	132030150	132030150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttaaattaccaagatcatCtttggcatcatttctactgg	12	16	5	8	0	4	1	2	0	2	1	4	1	4	1	1	2	2	1	1	2	5	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr6:132030150C>T	ENST00000314099.8	-	1	2056	c.2008G>A	c.(2008-2010)Gat>Aat	p.D670N	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	670						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CCAAGATCATCTTTGGCATCA	0.433																																																	0													1	1	1					6																	132030150		279	755	1034	SO:0001583	missense	0				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.2008G>A	6.37:g.132030150C>T	ENSP00000395587:p.Asp670Asn			Missense_Mutation	SNP	NULL	p.D670N	ENST00000314099.8	37	c.2008	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	11.39	1.625394	0.28889	.	.	ENSG00000236761	ENST00000314099	T	0.41065	1.01	.	.	.	.	.	.	.	.	T	0.48333	0.1494	M	0.87456	2.885	0.09310	N	1	D	0.65815	0.995	D	0.63957	0.92	T	0.25187	-1.0139	6	0.39692	T	0.17	.	.	.	.	.	670	A4FU28	CTGE9_HUMAN	N	670	ENSP00000395587:D670N	ENSP00000395587:D670N	D	-	1	0	CTAGE9	132071843	0.274000	0.24191	.	.	.	.	-0.193000	0.09573	.	.	.	.	GAT	CTAGE9	-	NULL	ENSG00000236761		0.433	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	-	0	72	0	C	NM_001145659		132030150	-1	tier1	-	no_errors	ENST00000314099	ensembl	human	known	74_37	missense	43.75	36	28	SNP	0.000	T	T	132030150	C	T	132030150	3	4	29	1	0	0	0	0	1	0	0	0	4005	913	32	3	329	3	CTAGE9	6	132030150	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	67238400	132030150	39084917	68	7168											
SYNE1	23345	genome.wustl.edu	37	chr6	152712639	152712639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacaggcggccctcctGcccagcaccgtggccttctt	6	7	11	17	2	1	0	0	0	1	0	2	1	2	1	5	4	3	1	5	4	1	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr6:152712639G>T	ENST00000367255.5	-	52	8378	c.7777C>A	c.(7777-7779)Cag>Aag	p.Q2593K	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2600K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2632K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2593K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2600K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2593					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGGCCCTCCTGCCCAGCACCG	0.493										HNSCC(10;0.0054)																																							0													46	49	48					6																	152712639		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7777C>A	6.37:g.152712639G>T	ENSP00000356224:p.Gln2593Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q2593K	ENST00000367255.5	37	c.7777	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	10.31	1.316071	0.23908	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52526	0.75;0.73;0.66;0.73;0.85	5.91	-1.03	0.10102	.	0.199096	0.34700	N	0.003755	T	0.06325	0.0163	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.0;0.001	T	0.44590	-0.9318	10	0.05833	T	0.94	.	18.8503	0.92225	0.0:0.0:0.7279:0.2721	.	2576;2593;2593;2600	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2593;2600;2593;2600;2632	ENSP00000356224:Q2593K;ENSP00000396024:Q2600K;ENSP00000265368:Q2593K;ENSP00000390975:Q2600K;ENSP00000341887:Q2632K	ENSP00000265368:Q2593K	Q	-	1	0	SYNE1	152754332	0.004000	0.15560	0.008000	0.14137	0.936000	0.57629	0.987000	0.29603	-0.385000	0.07833	0.655000	0.94253	CAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	74	0	G	NM_182961		152712639	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.000	T	T	152712639	G	T	152712639	3	4	29	1	0	0	0	0	1	0	0	0	15492	1328	46	3	19069	3	SYNE1	6	152712639	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	20682489	152712639	18402428	69	7169											
C7orf50	84310	genome.wustl.edu	37	chr7	1049737	1049737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgctcctctggggacaGctctggctctgcgtccagcc	3	10	11	17	1	4	0	0	0	4	0	6	1	6	1	4	3	4	3	4	3	0	0	rs200946845		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:1049737G>T	ENST00000397098.3	-	3	1098	c.172C>A	c.(172-174)Ctg>Atg	p.L58M	C7orf50_ENST00000357429.6_Missense_Mutation_p.L58M|C7orf50_ENST00000397100.2_Missense_Mutation_p.L58M|C7orf50_ENST00000488073.1_5'UTR			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	58							poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		TCTGGGGACAGCTCTGGCTCT	0.612																																																	0													70	62	64					7																	1049737		2200	4299	6499	SO:0001583	missense	0			BC006224	CCDS5320.1	7p22.3	2011-11-25			ENSG00000146540	ENSG00000146540			22421	protein-coding gene	gene with protein product							Standard	NM_032350		Approved	MGC11257, YCR016W	uc011jvu.1	Q9BRJ6	OTTHUMG00000151477	ENST00000397098.3:c.172C>A	7.37:g.1049737G>T	ENSP00000380286:p.Leu58Met			Missense_Mutation	SNP	pfam_DUF2373	p.L58M	ENST00000397098.3	37	c.172	CCDS5320.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.796|7.796	0.712581|0.712581	0.15306|0.15306	.|.	.|.	ENSG00000146540|ENSG00000146540	ENST00000412051|ENST00000397100;ENST00000397098;ENST00000357429;ENST00000444428;ENST00000491163	.|.	.|.	.|.	3.51|3.51	1.59|1.59	0.23543|0.23543	.|.	.|0.102380	.|0.39834	.|N	.|0.001254	T|T	0.37461|0.37461	0.1004|0.1004	L|L	0.47190|0.47190	1.495|1.495	0.09310|0.09310	N|N	0.999999|0.999999	.|D	.|0.58970	.|0.984	.|P	.|0.54372	.|0.75	T|T	0.13255|0.13255	-1.0516|-1.0516	5|9	.|0.46703	.|T	.|0.11	-8.1158|-8.1158	5.3368|5.3368	0.15961|0.15961	0.1232:0.406:0.4707:0.0|0.1232:0.406:0.4707:0.0	.|.	.|58	.|Q9BRJ6	.|CG050_HUMAN	D|M	42|58;58;58;26;58	.|.	.|ENSP00000350011:L58M	A|L	-|-	2|1	0|2	C7orf50|C7orf50	1016263|1016263	0.197000|0.197000	0.23362|0.23362	0.332000|0.332000	0.25469|0.25469	0.125000|0.125000	0.20455|0.20455	0.919000|0.919000	0.28692|0.28692	0.268000|0.268000	0.21939|0.21939	0.457000|0.457000	0.33378|0.33378	GCT|CTG	C7orf50	-	NULL	ENSG00000146540		0.612	C7orf50-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf50	HGNC	protein_coding	OTTHUMT00000322817.3	-	0	23	0	G	NM_032350		1049737	-1	tier1	-	no_errors	ENST00000357429	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.140	T	T	1049737	G	T	1049737	3	4	29	1	0	0	0	0	1	0	0	0	2406	962	34	3	424	3	C7orf50	7	1049737	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		1049737	158088926	70	7170											
CARD11	84433	genome.wustl.edu	37	chr7	2946383	2946383	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtcaggttccaccgtGgcgtacaggcacggcagggc	8	6	14	13	3	1	0	1	0	0	0	2	0	2	0	2	5	1	4	2	5	1	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:2946383G>T	ENST00000396946.4	-	25	3757	c.3354C>A	c.(3352-3354)gcC>gcA	p.A1118A		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1118	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTCCACCGTGGCGTACAGGC	0.647			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													68	52	58					7																	2946383		2203	4300	6503	SO:0001819	synonymous_variant	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3354C>A	7.37:g.2946383G>T			A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.A1118	ENST00000396946.4	37	c.3354	CCDS5336.2	7																																																																																			CARD11	-	superfamily_P-loop_NTPase	ENSG00000198286		0.647	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4		0	59	0	G	NM_032415		2946383	-1			no_errors	ENST00000396946	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T	T	2946383	G	T	2946383	2	4	29	1	0	0	0	0	0	0	0	1	2652	1335	47	3		3	CARD11	7	2946383	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1896646	2946383	156192280	71	7171											
SDK1	221935	genome.wustl.edu	37	chr7	4056935	4056935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggcgtacaacggggcCggtctgggcgtcttcagcag	5	7	18	11	5	3	0	1	0	2	0	3	0	3	0	1	6	3	2	1	6	2	2	rs562967510		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:4056935C>T	ENST00000404826.2	+	17	2692	c.2553C>T	c.(2551-2553)gcC>gcT	p.A851A	SDK1_ENST00000389531.3_Silent_p.A851A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	851	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAACGGGGCCGGTCTGGGCG	0.592													C|||	1	0.000199681	0	0	5008	,	,		17508	0		0	False		,,,				2504	0.001																0													74	68	70					7																	4056935		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2553C>T	7.37:g.4056935C>T			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A851	ENST00000404826.2	37	c.2553	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	33	0	C	NM_152744		4056935	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	39.13	28	18	SNP	0.005	T	T	4056935	C	T	4056935	2	4	29	1	0	0	0	0	0	0	0	1	14013	639	23	1		1	SDK1	7	4056935	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	1110552	4056935	155081728	72	7172											
SCIN	85477	genome.wustl.edu	37	chr7	12610421	12610421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgcaggagccatggcgcgGgagctataccacgaagagtt	10	6	15	10	4	0	1	0	0	0	1	0	4	0	3	2	3	4	3	2	3	3	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:12610421G>T	ENST00000297029.5	+	1	110	c.9G>T	c.(7-9)cgG>cgT	p.R3R	AC005281.2_ENST00000433040.1_RNA	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	3	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCATGGCGCGGGAGCTATACC	0.642																																																	0													15	22	20					7																	12610421		692	1590	2282	SO:0001819	synonymous_variant	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.9G>T	7.37:g.12610421G>T			A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.R3	ENST00000297029.5	37	c.9	CCDS47545.1	7																																																																																			SCIN	-	NULL	ENSG00000006747		0.642	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1		0	74	0	G	NM_033128		12610421	1			no_errors	ENST00000297029	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.562	T	T	12610421	G	T	12610421	2	4	29	1	0	0	0	0	0	0	0	1	13950	1219	43	3		3	SCIN	7	12610421	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	8553486	12610421	146528242	73	7173											
PCLO	27445	genome.wustl.edu	37	chr7	82586167	82586167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtgagcttgatattccatCggaagaatatcccgtgtcgc	11	11	10	9	3	0	3	0	2	0	1	4	4	2	4	2	1	1	1	2	1	5	4	rs533061339		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:82586167C>T	ENST00000333891.9	-	5	4439	c.4102G>A	c.(4102-4104)Gat>Aat	p.D1368N	PCLO_ENST00000423517.2_Missense_Mutation_p.D1368N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GATATTCCATCGGAAGAATAT	0.423													C|||	1	0.000199681	0	0	5008	,	,		16444	0		0	False		,,,				2504	0.001																0													58	56	56					7																	82586167		1860	4088	5948	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4102G>A	7.37:g.82586167C>T	ENSP00000334319:p.Asp1368Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.D1368N	ENST00000333891.9	37	c.4102	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555658	0.45487	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.27557	1.66;1.68	5.67	5.67	0.87782	.	.	.	.	.	T	0.58481	0.2125	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.60835	-0.7184	9	0.87932	D	0	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	1368;1368	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1299;1368;1368	ENSP00000334319:D1368N;ENSP00000388393:D1368N	ENSP00000334319:D1368N	D	-	1	0	PCLO	82424103	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.542000	0.60677	2.659000	0.90383	0.655000	0.94253	GAT	PCLO	-	NULL	ENSG00000186472		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	67	0	C	NM_014510		82586167	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	33.82	45	23	SNP	1.000	T	T	82586167	C	T	82586167	3	4	29	1	0	0	0	0	1	0	0	0	11622	884	31	1	11427	1	PCLO	7	82586167	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	69975746	82586167	76552496	74	7174											
CTTNBP2	83992	genome.wustl.edu	37	chr7	117365257	117365257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacagaggctcttgacaaTattgcttcttgaactctggg	9	14	9	9	0	4	3	1	2	3	1	4	3	4	3	0	2	2	2	0	2	3	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:117365257T>C	ENST00000160373.3	-	18	4201	c.4110A>G	c.(4108-4110)atA>atG	p.I1370M		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1370					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTCTTGACAATATTGCTTCTT	0.512																																																	0													211	203	206					7																	117365257		2203	4300	6503	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4110A>G	7.37:g.117365257T>C	ENSP00000160373:p.Ile1370Met		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I1370M	ENST00000160373.3	37	c.4110	CCDS5774.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.72|18.72	3.684737|3.684737	0.68157|0.68157	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	D|D	0.89875|0.88896	-2.58|-2.44	5.72|5.72	3.28|3.28	0.37604|0.37604	.|.	0.136236|0.136236	0.64402|0.64402	D|D	0.000002|0.000002	D|D	0.90909|0.90909	0.7143|0.7143	M|M	0.83852|0.83852	2.665|2.665	0.43263|0.43263	D|D	0.995205|0.995205	P|.	0.52577|.	0.954|.	P|.	0.51866|.	0.682|.	D|D	0.86387|0.86387	0.1733|0.1733	10|8	0.87932|0.23891	D|T	0|0.37	-5.1134|-5.1134	8.4135|8.4135	0.32657|0.32657	0.1187:0.0:0.2765:0.6047|0.1187:0.0:0.2765:0.6047	.|.	1370|.	Q8WZ74|.	CTTB2_HUMAN|.	M|V	1370|858	ENSP00000160373:I1370M|ENSP00000389576:I858V	ENSP00000160373:I1370M|ENSP00000389576:I858V	I|I	-|-	3|1	3|0	CTTNBP2|CTTNBP2	117152493|117152493	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.993000|0.993000	0.82548|0.82548	2.917000|2.917000	0.48821|0.48821	0.486000|0.486000	0.27676|0.27676	0.533000|0.533000	0.62120|0.62120	ATA|ATT	CTTNBP2	-	NULL	ENSG00000077063		0.512	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	-	0	69	0	T	NM_033427		117365257	-1	tier1	-	no_errors	ENST00000160373	ensembl	human	known	74_37	missense	48.65	19	18	SNP	0.975	C	C	117365257	T	C	117365257	3	2	29	1	0	0	0	0	1	0	0	0	4054	1396	49	4	905	4	CTTNBP2	7	117365257	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	34779090	117365257	41773406	75	7175											
KEL	3792	genome.wustl.edu	37	chr7	142639595	142639595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtctccccatggtgccGtaacagcctcttgctgtatg	7	11	10	13	1	2	0	0	0	2	0	3	1	2	0	4	1	4	3	4	1	2	3	rs370938244		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:142639595G>A	ENST00000355265.2	-	18	2437	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	655					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R655W(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCATGGTGCCGTAACAGCCTC	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	59	40	46		1963	-8.7	0	7		46	0,8600		0,0,4300	no	missense	KEL	NM_000420.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	655/733	142639595	1,13005	2203	4300	6503	SO:0001583	missense	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1963C>T	7.37:g.142639595G>A	ENSP00000347409:p.Arg655Trp		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R655W	ENST00000355265.2	37	c.1963	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	G	6.176	0.400625	0.11696	2.27E-4	0.0	ENSG00000197993	ENST00000355265	D	0.90788	-2.73	4.34	-8.67	0.00863	Peptidase M13, neprilysin, C-terminal (1);	3.616020	0.01020	N	0.003977	T	0.82093	0.4962	L	0.33093	0.98	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.68842	-0.5302	10	0.44086	T	0.13	-22.5163	3.9028	0.09169	0.0966:0.2072:0.4197:0.2765	.	655	P23276	KELL_HUMAN	W	655	ENSP00000347409:R655W	ENSP00000347409:R655W	R	-	1	2	KEL	142349717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.704000	0.00822	-3.552000	0.00142	-1.446000	0.01064	CGG	KEL	-	pfam_Peptidase_M13_C	ENSG00000197993		0.597	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2		0	71	0	G	NM_000420		142639595	-1			no_errors	ENST00000355265	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.000	A	A	142639595	G	A	142639595	3	1	29	1	0	0	0	0	1	0	0	0	8169	1144	40	1	243	1	KEL	7	142639595	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	25274338	142639595	16499068	76	7176											
NUB1	51667	genome.wustl.edu	37	chr7	151057290	151057290	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaaagaaaagaatatGgaatagccttgccatgtctg	15	10	9	7	0	1	3	0	1	1	2	2	4	2	4	3	1	2	0	3	1	8	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr7:151057290G>T	ENST00000355851.4	+	8	834	c.757G>T	c.(757-759)Gga>Tga	p.G253*	NUB1_ENST00000413040.2_Nonsense_Mutation_p.G277*|NUB1_ENST00000566856.1_Nonsense_Mutation_p.G253*|NUB1_ENST00000477666.1_3'UTR|NUB1_ENST00000568733.1_Nonsense_Mutation_p.G277*	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	253					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AAAAGAATATGGAATAGCCTT	0.393																																																	0													78	74	75					7																	151057290		1934	4161	6095	SO:0001587	stop_gained	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.757G>T	7.37:g.151057290G>T	ENSP00000348110:p.Gly253*		O95422|Q75MR9|Q8IX22|Q9BXR2	Nonsense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.G277*	ENST00000355851.4	37	c.829		7	.	.	.	.	.	.	.	.	.	.	G	36	5.793479	0.96952	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000483358	.	.	.	5.95	5.95	0.96441	.	0.307628	0.36628	N	0.002485	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-19.4594	19.3813	0.94536	0.0:0.0:1.0:0.0	.	.	.	.	X	253	.	ENSP00000348110:G253X	G	+	1	0	NUB1	150688223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.157000	0.71846	2.824000	0.97209	0.655000	0.94253	GGA	NUB1	-	NULL	ENSG00000013374		0.393	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		-	0	89	0	G	NM_016118		151057290	1	tier1	-	no_errors	ENST00000568733	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	151057290	G	T	151057290	4	4	29	1	0	0	0	0	0	1	0	0	10753	1349	47	3	783	3	NUB1	7	151057290	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	8417695	151057290	8081373	77	7177											
SLC7A2	6542	genome.wustl.edu	37	chr8	17412565	17412565	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggcagtcaccagttgctgCcacgttgactgcaggggtca	8	8	14	11	1	2	1	2	1	0	0	2	2	2	1	2	3	3	5	2	3	0	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr8:17412565C>T	ENST00000494857.1	+	8	1413				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A429V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A429V|SLC7A2_ENST00000004531.10_Intron	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.A429V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGTTGCTGCCACGTTGACT	0.443																																																	1	Substitution - Missense(1)	endometrium(1)											162	149	153					8																	17412565		2203	4300	6503	SO:0001627	intron_variant	0			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"Solute carriers"	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1195+357C>T	8.37:g.17412565C>T			B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	p.A429V	ENST00000494857.1	37	c.1286	CCDS34852.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.157286	0.94686	.	.	ENSG00000003989	ENST00000470360;ENST00000398090	D;D	0.91740	-2.9;-2.9	5.15	5.15	0.70609	.	0.049960	0.85682	D	0.000000	D	0.96166	0.8750	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.96365	0.9269	9	0.66056	D	0.02	.	19.0069	0.92854	0.0:1.0:0.0:0.0	.	429	P52569-2	.	V	429	ENSP00000419873:A429V;ENSP00000381164:A429V	ENSP00000381164:A429V	A	+	2	0	SLC7A2	17456857	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.579000	0.87056	0.460000	0.39030	GCC	SLC7A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease	ENSG00000003989		0.443	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A2	HGNC	protein_coding	OTTHUMT00000253367.3		0	51	0	C	NM_003046		17412565	1			no_errors	ENST00000398090	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	17412565	C	T	17412565	1	4	29	0	1	0	0	0	0	0	0	0	14742	739	26	3		3	SLC7A2	8	17412565	Intron	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09		17412565	128951457	78	7178											
FAM160B2	64760	genome.wustl.edu	37	chr8	21953882	21953882	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagaagacagacattccCtggcggctgaagcagatgct	12	6	12	11	1	0	5	0	1	0	4	1	5	1	5	2	2	2	3	2	2	3	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr8:21953882C>A	ENST00000289921.7	+	3	205	c.159C>A	c.(157-159)ccC>ccA	p.P53P		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	53										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CAGACATTCCCTGGCGGCTGA	0.577																																																	0													24	28	26					8																	21953882		1957	4113	6070	SO:0001819	synonymous_variant	0			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.159C>A	8.37:g.21953882C>A			B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Silent	SNP	pfam_RetinoicA-induced_16-like	p.P53	ENST00000289921.7	37	c.159	CCDS6021.2	8																																																																																			FAM160B2	-	NULL	ENSG00000158863		0.577	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2		0	123	0	C			21953882	1			no_errors	ENST00000289921	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	A	A	21953882	C	A	21953882	2	1	29	1	0	0	0	0	0	0	0	1	5490	668	24	3		3	FAM160B2	8	21953882	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	4541317	21953882	124410140	79	7179											
ADRA1A	148	genome.wustl.edu	37	chr8	26627783	26627783	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagacctgcaaaaaGcttttacttctcacccgggc	11	8	8	14	1	1	1	1	0	1	1	2	1	1	1	2	1	5	4	2	1	3	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr8:26627783G>C	ENST00000380573.3	-	3	2307	c.1284C>G	c.(1282-1284)agC>agG	p.S428R	ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.S428R|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0	Poly-Arg.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CCTGCAAAAAGCTTTTACTTC	0.507																																																	0													141	142	141					8																	26627783		2203	4300	6503	SO:0001583	missense	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380573.3:c.1284C>G	8.37:g.26627783G>C	ENSP00000369947:p.Ser428Arg		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.S428R	ENST00000380573.3	37	c.1284	CCDS6054.1	8	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188656	0.38609	.	.	ENSG00000120907	ENST00000276393;ENST00000380573	T;T	0.63744	-0.06;-0.06	5.85	3.13	0.36017	.	.	.	.	.	T	0.53126	0.1777	M	0.64997	1.995	0.80722	D	1	B	0.31227	0.314	B	0.29077	0.098	T	0.46331	-0.9199	9	0.41790	T	0.15	.	5.2835	0.15688	0.3591:0.1345:0.5064:0.0	.	428	P35348	ADA1A_HUMAN	R	428	ENSP00000276393:S428R;ENSP00000369947:S428R	ENSP00000276393:S428R	S	-	3	2	ADRA1A	26683700	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.200000	0.32247	0.399000	0.25367	-0.137000	0.14449	AGC	ADRA1A	-	NULL	ENSG00000120907		0.507	ADRA1A-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376208.1	-	0	71	0	G	NM_033303		26627783	-1	tier1	-	no_errors	ENST00000276393	ensembl	human	known	74_37	missense	60.61	13	20	SNP	1.000	C	C	26627783	G	C	26627783	3	2	29	1	0	0	0	0	1	0	0	0	334	962	34	5	411	5	ADRA1A	8	26627783	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	4673901	26627783	119736239	80	7180											
PLAG1	5324	genome.wustl.edu	37	chr8	57080625	57080625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaaggccttggtgcaGtcttgttgtatgcacttgta	10	13	11	7	0	1	0	0	0	1	0	1	1	1	0	1	2	3	5	1	2	4	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr8:57080625G>T	ENST00000316981.3	-	4	683	c.204C>A	c.(202-204)gaC>gaA	p.D68E	PLAG1_ENST00000423799.2_Intron|PLAG1_ENST00000429357.2_Missense_Mutation_p.D68E	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	68	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.|Interacts with KPNA2.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CCTTGGTGCAGTCTTGTTGTA	0.388			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma																																			Dom	yes		8	8q12	5324	pleiomorphic adenoma gene 1		E	0													96	91	92					8																	57080625		2203	4300	6503	SO:0001583	missense	0			U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"Zinc fingers, C2H2-type"	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.204C>A	8.37:g.57080625G>T	ENSP00000325546:p.Asp68Glu		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D68E	ENST00000316981.3	37	c.204	CCDS6165.1	8	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561351	0.27915	.	.	ENSG00000181690	ENST00000316981;ENST00000429357	T;T	0.17054	2.3;2.3	5.77	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.088381	0.85682	D	0.000000	T	0.06917	0.0176	N	0.02202	-0.64	0.58432	D	0.999998	P	0.42757	0.789	B	0.41088	0.347	T	0.18681	-1.0329	10	0.02654	T	1	-24.4014	14.9253	0.70871	0.0:0.0:0.7383:0.2617	.	68	Q6DJT9	PLAG1_HUMAN	E	68	ENSP00000325546:D68E;ENSP00000416537:D68E	ENSP00000325546:D68E	D	-	3	2	PLAG1	57243179	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	7.937000	0.87672	0.723000	0.32274	-0.182000	0.12963	GAC	PLAG1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181690		0.388	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLAG1	HGNC	protein_coding	OTTHUMT00000378212.1	-	0	50	0	G	NM_002655		57080625	-1	tier1	-	no_errors	ENST00000316981	ensembl	human	known	74_37	missense	8.33	66	6	SNP	1.000	T	T	57080625	G	T	57080625	3	4	29	1	0	0	0	0	1	0	0	0	12057	1020	36	3	1306	3	PLAG1	8	57080625	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	30452842	57080625	89283397	81	7181											
FER1L6	654463	genome.wustl.edu	37	chr8	125076723	125076723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgcccaggcccagccggCcatcctggttgacgtccctg	4	8	11	18	2	1	1	0	1	1	0	3	1	3	1	6	3	2	1	6	3	0	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr8:125076723C>T	ENST00000522917.1	+	26	3670	c.3464C>T	c.(3463-3465)gCc>gTc	p.A1155V	FER1L6_ENST00000399018.1_Missense_Mutation_p.A1155V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1155						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCCAGCCGGCCATCCTGGTT	0.592																																																	0													71	77	75					8																	125076723		2015	4182	6197	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3464C>T	8.37:g.125076723C>T	ENSP00000428280:p.Ala1155Val			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.A1155V	ENST00000522917.1	37	c.3464	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	C	1.747	-0.490167	0.04322	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.80738	-1.41;-1.41	5.14	5.14	0.70334	.	3.045620	0.01546	N	0.019451	T	0.74397	0.3711	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.55055	-0.8200	10	0.22109	T	0.4	0.2992	14.1309	0.65253	0.0:1.0:0.0:0.0	.	1155	Q2WGJ9	FR1L6_HUMAN	V	1155	ENSP00000428280:A1155V;ENSP00000381982:A1155V	ENSP00000381982:A1155V	A	+	2	0	FER1L6	125145904	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	0.648000	0.24828	2.396000	0.81511	0.462000	0.41574	GCC	FER1L6	-	NULL	ENSG00000214814		0.592	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	-	0	39	0	C	NM_001039112		125076723	1	tier1	-	no_errors	ENST00000399018	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.047	T	T	125076723	C	T	125076723	3	4	29	1	0	0	0	0	1	0	0	0	5837	739	26	3	3562	3	FER1L6	8	125076723	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	67996098	125076723	21287299	82	7182											
KANK1	23189	genome.wustl.edu	37	chr9	711982	711982	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtggctgtgggtgccGaggagaacatgaacgacatc	9	8	16	8	2	1	2	0	1	1	1	2	5	1	2	1	4	3	1	1	4	2	0	rs147714853		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr9:711982G>T	ENST00000382303.1	+	7	1868	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*	KANK1_ENST00000382293.3_Nonsense_Mutation_p.E248*|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.E406*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	406	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGTGGGTGCCGAGGAGAACAT	0.562																																																	0													98	76	84					9																	711982		2203	4300	6503	SO:0001587	stop_gained	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1216G>T	9.37:g.711982G>T	ENSP00000371740:p.Glu406*		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E406*	ENST00000382303.1	37	c.1216	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	44	10.791565	0.99468	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	.	.	.	5.73	2.92	0.33932	.	0.203425	0.34223	N	0.004156	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	1.4239	10.5887	0.45298	0.2094:0.0:0.7906:0.0	.	.	.	.	X	406;406;406;248	.	ENSP00000346479:E406X	E	+	1	0	KANK1	701982	0.998000	0.40836	0.011000	0.14972	0.854000	0.48673	2.584000	0.46102	0.364000	0.24374	0.655000	0.94253	GAG	KANK1	-	NULL	ENSG00000107104		0.562	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0	54	0	G	NM_015158		711982	1			no_errors	ENST00000382297	ensembl	human	known	74_37	nonsense	11.54	23	3	SNP	0.966	T	T	711982	G	T	711982	4	4	29	1	0	0	0	0	0	1	0	0	8003	1059	37	2	1222	2	KANK1	9	711982	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		711982	140501449	83	7183											
TRPM3	80036	genome.wustl.edu	37	chr9	73240146	73240146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtagagggtccggaaGcgcttgcgcgtgtagttgca	6	11	17	7	4	0	1	0	0	0	1	1	2	1	2	1	3	3	5	1	3	3	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr9:73240146G>A	ENST00000377111.2	-	13	1977	c.1734C>T	c.(1732-1734)cgC>cgT	p.R578R	TRPM3_ENST00000377105.1_Silent_p.R437R|TRPM3_ENST00000377110.3_Silent_p.R578R|TRPM3_ENST00000357533.2_Silent_p.R592R|TRPM3_ENST00000396285.1_Silent_p.R425R|TRPM3_ENST00000423814.3_Silent_p.R605R|TRPM3_ENST00000377106.1_Silent_p.R450R|TRPM3_ENST00000360823.2_Silent_p.R450R|TRPM3_ENST00000358082.3_Silent_p.R450R|TRPM3_ENST00000396292.4_Silent_p.R450R|TRPM3_ENST00000396280.5_Silent_p.R437R|TRPM3_ENST00000408909.2_Silent_p.R437R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	603					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGGTCCGGAAGCGCTTGCGCG	0.597																																																	0													39	40	40					9																	73240146		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1734C>T	9.37:g.73240146G>A			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.R605	ENST00000377111.2	37	c.1815		9	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408438	0.25378	.	.	ENSG00000083067	ENST00000396280	.	.	.	6.03	3.12	0.35913	.	.	.	.	.	T	0.52629	0.1746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49331	-0.8951	4	.	.	.	-19.6504	5.0339	0.14424	0.0767:0.1637:0.5531:0.2065	.	.	.	.	F	437	.	.	L	-	1	0	TRPM3	72429966	0.925000	0.31364	1.000000	0.80357	0.995000	0.86356	-0.015000	0.12634	1.570000	0.49709	0.555000	0.69702	CTT	TRPM3	-	NULL	ENSG00000083067		0.597	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	35	0	G	NM_206945		73240146	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	33.87	41	21	SNP	0.999	A	A	73240146	G	A	73240146	2	1	29	1	0	0	0	0	0	0	0	1	16635	958	34	3		3	TRPM3	9	73240146	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	72528164	73240146	67973285	84	7184											
PTCH1	5727	genome.wustl.edu	37	chr9	98218645	98218645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgagcttgattccgatGaggcccatcatgccgaacag	10	8	11	12	2	1	3	1	3	0	0	2	5	2	3	3	1	3	2	3	1	1	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr9:98218645G>T	ENST00000331920.6	-	19	3518	c.3219C>A	c.(3217-3219)ctC>ctA	p.L1073L	PTCH1_ENST00000429896.2_Silent_p.L922L|PTCH1_ENST00000430669.2_Silent_p.L1007L|PTCH1_ENST00000375274.2_Silent_p.L1072L|PTCH1_ENST00000437951.1_Silent_p.L1007L|PTCH1_ENST00000418258.1_Silent_p.L922L|PTCH1_ENST00000421141.1_Silent_p.L922L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1073					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGATTCCGATGAGGCCCATCA	0.597																																																	1	Deletion - In frame(1)	central_nervous_system(1)											127	92	104					9																	98218645		2203	4300	6503	SO:0001819	synonymous_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3219C>A	9.37:g.98218645G>T			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L1073	ENST00000331920.6	37	c.3219	CCDS6714.1	9																																																																																			PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0	37	0	G	NM_000264		98218645	-1			no_errors	ENST00000331920	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.998	T	T	98218645	G	T	98218645	2	4	29	1	0	0	0	0	0	0	0	1	12772	1277	45	3		3	PTCH1	9	98218645	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	24978499	98218645	42994786	85	7185											
GALNT12	79695	genome.wustl.edu	37	chr9	101594127	101594127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaacaccttcgaatacctgGggaactccggggagccccag	10	5	13	13	2	0	0	0	0	0	0	2	4	1	3	5	5	4	0	5	5	4	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr9:101594127G>A	ENST00000375011.3	+	4	805	c.805G>A	c.(805-807)Ggg>Agg	p.G269R		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	269					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CGAATACCTGGGGAACTCCGG	0.577																																																	0													78	74	75					9																	101594127		2203	4300	6503	SO:0001583	missense	0			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.805G>A	9.37:g.101594127G>A	ENSP00000364150:p.Gly269Arg		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G269R	ENST00000375011.3	37	c.805	CCDS6737.1	9	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998154	0.54147	.	.	ENSG00000119514	ENST00000375011	T	0.58506	0.33	5.72	5.72	0.89469	Glycosyl transferase, family 2 (1);	4.706910	0.00447	N	0.000084	T	0.75406	0.3845	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58244	-0.7670	10	0.20519	T	0.43	.	17.3708	0.87377	0.0:0.0:1.0:0.0	.	269	Q8IXK2	GLT12_HUMAN	R	269	ENSP00000364150:G269R	ENSP00000364150:G269R	G	+	1	0	GALNT12	100633948	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.927000	0.87577	2.709000	0.92574	0.561000	0.74099	GGG	GALNT12	-	pfam_Glyco_trans_2	ENSG00000119514		0.577	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT12	HGNC	protein_coding	OTTHUMT00000053382.1	-	0	107	0	G	NM_024642		101594127	1	tier1	-	no_errors	ENST00000375011	ensembl	human	known	74_37	missense	84.71	24	133	SNP	1.000	A	A	101594127	G	A	101594127	3	1	29	1	0	0	0	0	1	0	0	0	6235	1232	43	3	819	3	GALNT12	9	101594127	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	3375482	101594127	39619304	86	7186											
DBC1	1620	genome.wustl.edu	37	chr9	121976407	121976407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggacaaacttctcttgcaGatactgaggaaagattatct	13	12	8	8	0	2	3	0	1	2	2	3	5	2	5	0	2	3	1	0	2	4	4	rs541790465		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr9:121976407G>C	ENST00000265922.3	-	6	1173	c.712C>G	c.(712-714)Ctg>Gtg	p.L238V	BRINP1_ENST00000373964.2_Missense_Mutation_p.L238V	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	238	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TTCTCTTGCAGATACTGAGGA	0.448																																																	0													81	72	75					9																	121976407		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.712C>G	9.37:g.121976407G>C	ENSP00000265922:p.Leu238Val		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.L238V	ENST00000265922.3	37	c.712	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990995	0.74703	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.61040	1.79;0.14	5.54	5.54	0.83059	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.64402	D	0.000001	T	0.72645	0.3486	M	0.68317	2.08	0.58432	D	0.999999	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.75025	-0.3463	10	0.87932	D	0	-11.0821	13.7534	0.62921	0.0759:0.0:0.9241:0.0	.	238;238	O60477-2;O60477	.;DBC1_HUMAN	V	238	ENSP00000265922:L238V;ENSP00000363075:L238V	ENSP00000265922:L238V	L	-	1	2	DBC1	121016228	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.049000	0.71053	2.601000	0.87937	0.655000	0.94253	CTG	BRINP1	-	smart_MACPF	ENSG00000078725		0.448	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	57	0	G	NM_014618		121976407	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	20.20	79	20	SNP	1.000	C	C	121976407	G	C	121976407	3	2	29	1	0	0	0	0	1	0	0	0	4256	933	33	5	1585	5	DBC1	9	121976407	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	20382280	121976407	19237024	87	7187											
NMT2	9397	genome.wustl.edu	37	chr10	15154837	15154837	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgctcatgaggtccagcagGggcgtctctgtgtggatgtt	5	12	15	9	2	2	1	1	1	1	0	5	2	3	2	1	4	1	3	1	4	0	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:15154837G>T	ENST00000378165.4	-	10	1376	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	NMT2_ENST00000535341.1_Silent_p.P419P|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Silent_p.P419P|NMT2_ENST00000540259.1_Silent_p.P244P	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	432					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GGTCCAGCAGGGGCGTCTCTG	0.547																																					Melanoma(117;1345 1645 4130 12688 30625)												0													172	168	169					10																	15154837		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.1296C>A	10.37:g.15154837G>T			B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.P432	ENST00000378165.4	37	c.1296	CCDS7109.1	10																																																																																			NMT2	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.547	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	-	0	44	0	G	NM_004808		15154837	-1	tier1	-	no_errors	ENST00000378165	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.778	T	T	15154837	G	T	15154837	2	4	29	1	0	0	0	0	0	0	0	1	10543	1219	43	3		3	NMT2	10	15154837	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		15154837	120379910	88	7188											
MPP7	143098	genome.wustl.edu	37	chr10	28348649	28348649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacaccatcactctcctGgcttcttcttgctctggtgg	5	15	7	14	0	6	0	2	0	4	0	7	0	6	0	2	3	2	2	2	3	1	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:28348649G>T	ENST00000375732.1	-	14	1487	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K	MPP7_ENST00000375719.3_Missense_Mutation_p.Q410K|MPP7_ENST00000540098.1_Missense_Mutation_p.Q410K|MPP7_ENST00000337532.5_Missense_Mutation_p.Q410K|MPP7_ENST00000445954.2_Missense_Mutation_p.Q285K			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	410	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCACTCTCCTGGCTTCTTCTT	0.348																																																	0													110	106	107					10																	28348649		2203	4299	6502	SO:0001583	missense	0			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1228C>A	10.37:g.28348649G>T	ENSP00000364884:p.Gln410Lys		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain	p.Q410K	ENST00000375732.1	37	c.1228	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191442	0.78902	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36	5.51	5.51	0.81932	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.112905	0.64402	D	0.000009	T	0.21590	0.0520	N	0.21142	0.635	0.80722	D	1	P	0.41848	0.763	P	0.49421	0.61	T	0.01791	-1.1273	10	0.27082	T	0.32	.	19.4309	0.94765	0.0:0.0:1.0:0.0	.	410	Q5T2T1	MPP7_HUMAN	K	410;410;410;410;171;285	ENSP00000364884:Q410K;ENSP00000337907:Q410K;ENSP00000438693:Q410K;ENSP00000364871:Q410K;ENSP00000398319:Q171K;ENSP00000405397:Q285K	ENSP00000337907:Q410K	Q	-	1	0	MPP7	28388655	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.592000	0.87571	0.650000	0.86243	CAG	MPP7	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000150054		0.348	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	-	0	65	0	G	NM_173496		28348649	-1	tier1	-	no_errors	ENST00000337532	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	28348649	G	T	28348649	3	4	29	1	0	0	0	0	1	0	0	0	9777	1357	47	3	518	3	MPP7	10	28348649	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	13193812	28348649	107186098	89	7189											
VCL	7414	genome.wustl.edu	37	chr10	75863596	75863596	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtggtctcggctgctcgtAtcttacttaggaaccctgga	7	12	12	10	2	2	0	0	0	2	0	4	2	2	2	1	5	3	3	1	5	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:75863596A>G	ENST00000211998.4	+	15	2135	c.2041A>G	c.(2041-2043)Atc>Gtc	p.I681V	VCL_ENST00000372755.3_Missense_Mutation_p.I681V|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_3'UTR	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	681	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GGCTGCTCGTATCTTACTTAG	0.423																																																	0													189	151	164					10																	75863596		2203	4300	6503	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2041A>G	10.37:g.75863596A>G	ENSP00000211998:p.Ile681Val		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.I681V	ENST00000211998.4	37	c.2041	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591178	0.66219	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.41400	1.0;1.0;1.0	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	L	0.54323	1.7	0.80722	D	1	B;P;P	0.40032	0.254;0.564;0.699	P;P;P	0.58130	0.511;0.821;0.833	T	0.57849	-0.7740	10	0.52906	T	0.07	.	16.3083	0.82859	1.0:0.0:0.0:0.0	.	608;681;681	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	V	681;681;588;608;353	ENSP00000361841:I681V;ENSP00000211998:I681V;ENSP00000415489:I353V	ENSP00000211998:I681V	I	+	1	0	VCL	75533602	1.000000	0.71417	0.987000	0.45799	0.971000	0.66376	8.711000	0.91396	2.250000	0.74265	0.455000	0.32223	ATC	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.423	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0	93	0	A	NM_003373, NM_014000		75863596	1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	missense	40.59	60	41	SNP	0.999	G	G	75863596	A	G	75863596	3	3	29	1	0	0	0	0	1	0	0	0	17188	449	16	4	2099	4	VCL	10	75863596	Missense_Mutation	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	47514947	75863596	59671151	90	7190											
SLIT1	6585	genome.wustl.edu	37	chr10	98808867	98808867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaatgaaagggttctgcGccaggtgcctgtccaaagca	11	7	12	11	2	1	1	0	1	1	0	2	1	2	1	3	2	3	3	3	2	3	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:98808867G>T	ENST00000266058.4	-	14	1555	c.1310C>A	c.(1309-1311)gCg>gAg	p.A437E	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A437E	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	437					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGGGTTCTGCGCCAGGTGCCT	0.617																																																	0													54	49	50					10																	98808867		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1310C>A	10.37:g.98808867G>T	ENSP00000266058:p.Ala437Glu		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.A437E	ENST00000266058.4	37	c.1310	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.065721	0.93898	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	T;T;T	0.52057	1.86;1.86;0.68	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.33792	1.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64041	-0.6500	10	0.87932	D	0	.	18.6447	0.91407	0.0:0.0:1.0:0.0	.	447;437	E7EWQ8;O75093	.;SLIT1_HUMAN	E	437;447;437;430	ENSP00000266058:A437E;ENSP00000360109:A437E;ENSP00000315005:A430E	ENSP00000266058:A437E	A	-	2	0	SLIT1	98798857	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.514000	0.98013	2.626000	0.88956	0.557000	0.71058	GCG	SLIT1	-	NULL	ENSG00000187122		0.617	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1		0	23	0	G	NM_003061		98808867	-1			no_errors	ENST00000266058	ensembl	human	known	74_37	missense	12.12	28	4	SNP	1.000	T	T	98808867	G	T	98808867	3	4	29	1	0	0	0	0	1	0	0	0	14784	1087	38	2	3390	2	SLIT1	10	98808867	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	22945271	98808867	36725880	91	7191											
NOLC1	9221	genome.wustl.edu	37	chr10	103920492	103920492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatctctgcctgccaagcaGgctcctcagggtagtaggga	8	9	12	12	0	2	0	1	0	1	0	4	1	3	1	3	3	3	4	3	3	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:103920492G>T	ENST00000605788.1	+	10	1618	c.1383G>T	c.(1381-1383)caG>caT	p.Q461H	NOLC1_ENST00000603742.1_Missense_Mutation_p.Q180H|NOLC1_ENST00000405356.1_Missense_Mutation_p.Q471H|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.Q462H	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	461	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGCCAAGCAGGCTCCTCAGG	0.537																																																	0													60	59	59					10																	103920492		2203	4300	6503	SO:0001583	missense	0			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.1383G>T	10.37:g.103920492G>T	ENSP00000474710:p.Gln461His		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.Q471H	ENST00000605788.1	37	c.1413	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	9.933	1.215467	0.22373	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.44881	0.91	6.03	1.9	0.25705	.	0.515815	0.19022	N	0.124793	T	0.37100	0.0991	M	0.68317	2.08	0.09310	N	1	P;P;P	0.48503	0.911;0.911;0.855	P;P;B	0.44946	0.465;0.465;0.275	T	0.28902	-1.0029	10	0.42905	T	0.14	-11.6039	1.47	0.02414	0.3022:0.134:0.4256:0.1382	.	462;471;461	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	H	471;461	ENSP00000385410:Q471H	ENSP00000359024:Q461H	Q	+	3	2	NOLC1	103910482	0.000000	0.05858	0.376000	0.26042	0.577000	0.36160	-0.106000	0.10890	0.889000	0.36185	0.655000	0.94253	CAG	NOLC1	-	NULL	ENSG00000166197		0.537	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	-	0	45	0	G	NM_004741		103920492	1	tier1	-	no_errors	ENST00000405356	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.000	T	T	103920492	G	T	103920492	3	4	29	1	0	0	0	0	1	0	0	0	10568	991	35	3	1421	3	NOLC1	10	103920492	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	5111625	103920492	31614255	92	7192											
CCDC147	159686	genome.wustl.edu	37	chr10	106139943	106139943	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggaaaaggagcgtgacCggtacatcaaccaagccagt	14	6	11	10	2	2	1	1	1	1	0	2	3	2	3	3	3	4	1	3	3	5	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:106139943C>A	ENST00000369704.3	+	9	1464	c.1330C>A	c.(1330-1332)Cgg>Agg	p.R444R	CCDC147_ENST00000369703.1_Silent_p.R66R|CCDC147_ENST00000312902.5_Silent_p.R66R	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		444						extracellular space (GO:0005615)		p.R444R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGAGCGTGACCGGTACATCAA	0.493																																																	1	Substitution - coding silent(1)	lung(1)											114	99	104					10																	106139943		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000369704.3:c.1330C>A	10.37:g.106139943C>A			D3DRA6|Q8NA27	Silent	SNP	superfamily_Homeodomain-like	p.R444	ENST00000369704.3	37	c.1330	CCDS31282.1	10																																																																																			CCDC147	-	NULL	ENSG00000120051		0.493	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	-	0	99	0	C			106139943	1	tier1	-	no_errors	ENST00000369704	ensembl	human	known	74_37	silent	37.00	63	37	SNP	1.000	A	A	106139943	C	A	106139943	2	1	29	1	0	0	0	0	0	0	0	1	2788	643	23	2		2	CCDC147	10	106139943	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	2219451	106139943	29394804	93	7193											
AFAP1L2	84632	genome.wustl.edu	37	chr10	116057112	116057112	+	Frame_Shift_Del	DEL	C	C	-																															ccacgcgcctgctctcctcgCcccggcactcctcgtcaatt																								rs149846490	byFrequency	TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:116057112delC	ENST00000304129.4	-	17	2203	c.2174delG	c.(2173-2175)ggcfs	p.G725fs	AFAP1L2_ENST00000545353.1_Frame_Shift_Del_p.G778fs|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000369271.3_Frame_Shift_Del_p.G725fs			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	725					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GCTCTCCTCGCCCCGGCACTC	0.582																																																	0													49	41	43					10																	116057112		2203	4300	6503	SO:0001589	frameshift_variant	0			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"Pleckstrin homology (PH) domain containing"	25901	protein-coding gene	gene with protein product		612420	"KIAA1914"	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.2174delG	10.37:g.116057112delC	ENSP00000303042:p.Gly725fs		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G778fs	ENST00000304129.4	37	c.2333	CCDS31286.1	10																																																																																			AFAP1L2	-	NULL	ENSG00000169129		0.582	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFAP1L2	HGNC	protein_coding	OTTHUMT00000050462.1		0	33	0	C	NM_032550		116057112	-1	tier1		no_errors	ENST00000545353	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.000	-	-	116057112	C	-	116057112	7	5	29	1	0	1	0	1	0	0	0	0	355	739	26	0	294	0	AFAP1L2	10	116057112	Frame_Shift_Del	DEL	C	TCGA-IG-A6QS-01A-12D-A33E-09	9917169	116057112	19477635	94	7194											
CPXM2	119587	genome.wustl.edu	37	chr10	125639747	125639747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctctgacatcttcacggGccacacggacactgtgatca	9	10	8	14	2	5	2	2	2	3	0	6	3	5	3	1	2	0	0	1	2	0	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr10:125639747G>A	ENST00000241305.3	-	2	537	c.383C>T	c.(382-384)gCc>gTc	p.A128V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	128					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATCTTCACGGGCCACACGGAC	0.552																																																	0													214	202	206					10																	125639747		2203	4300	6503	SO:0001583	missense	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.383C>T	10.37:g.125639747G>A	ENSP00000241305:p.Ala128Val		B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.A128V	ENST00000241305.3	37	c.383	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770534	0.15983	.	.	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.96136	-3.92	3.76	1.82	0.25136	.	0.505534	0.18647	N	0.135126	D	0.83977	0.5371	N	0.02539	-0.55	0.20873	N	0.999836	B	0.02656	0.0	B	0.01281	0.0	T	0.75365	-0.3343	10	0.37606	T	0.19	-21.7712	5.3766	0.16168	0.1176:0.2322:0.6502:0.0	.	128	Q8N436	CPXM2_HUMAN	V	128	ENSP00000241305:A128V	ENSP00000241305:A128V	A	-	2	0	CPXM2	125629737	0.368000	0.25031	0.164000	0.22755	0.527000	0.34593	0.153000	0.16323	0.507000	0.28148	0.655000	0.94253	GCC	CPXM2	-	NULL	ENSG00000121898		0.552	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1		0	67	0	G	NM_198148		125639747	-1			no_errors	ENST00000241305	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.174	A	A	125639747	G	A	125639747	3	1	29	1	0	0	0	0	1	0	0	0	3845	1203	42	3	1939	3	CPXM2	10	125639747	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	9582635	125639747	9895000	95	7195											
MUC2	4583	genome.wustl.edu	37	chr11	1085807	1085807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgagaacgtcccctgtGgcactacgggcgtcacctgc	7	7	11	16	4	2	1	2	0	0	1	3	2	3	1	4	2	3	1	4	2	2	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:1085807G>T	ENST00000441003.2	+	21	2755	c.2728G>T	c.(2728-2730)Ggc>Tgc	p.G910C	MUC2_ENST00000359061.5_Missense_Mutation_p.G910C	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	910	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTCCCCTGTGGCACTACGGG	0.642																																																	0													94	101	99					11																	1085807		2115	4225	6340	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2728G>T	11.37:g.1085807G>T	ENSP00000415183:p.Gly910Cys		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G910C	ENST00000441003.2	37	c.2728		11	.	.	.	.	.	.	.	.	.	.	g	15.87	2.961628	0.53400	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.61158	0.13;0.13	3.69	3.69	0.42338	.	0.384271	0.20817	N	0.085131	T	0.75889	0.3911	M	0.80616	2.505	0.48901	D	0.999724	D	0.76494	0.999	D	0.80764	0.994	T	0.78201	-0.2296	10	0.42905	T	0.14	.	15.612	0.76733	0.0:0.0:1.0:0.0	.	910	E7EUV1	.	C	910	ENSP00000415183:G910C;ENSP00000351956:G910C	ENSP00000351956:G910C	G	+	1	0	MUC2	1075807	1.000000	0.71417	0.958000	0.39756	0.772000	0.43724	9.496000	0.97967	1.914000	0.55421	0.486000	0.48141	GGC	MUC2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000198788		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	37	0	G	NM_002457		1085807	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	1085807	G	T	1085807	3	4	29	1	0	0	0	0	1	0	0	0	10013	1348	47	3	2810	3	MUC2	11	1085807	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		1085807	133920709	96	7196											
OR52B4	143496	genome.wustl.edu	37	chr11	4389279	4389279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccagaagatagctaaggCctgaggaatggtgcacgtgg	13	6	15	7	1	0	3	0	1	0	2	0	5	0	4	2	4	3	2	2	4	5	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:4389279C>A	ENST00000408920.2	-	1	337	c.247G>T	c.(247-249)Gcc>Tcc	p.A83S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	83					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCTAAGGCCTGAGGAATG	0.527																																																	0													92	98	96					11																	4389279		2153	4254	6407	SO:0001583	missense	0			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"GPCR / Class A : Olfactory receptors"	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.247G>T	11.37:g.4389279C>A	ENSP00000386160:p.Ala83Ser		A6NP68|Q6IFK6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A83S	ENST00000408920.2	37	c.247	CCDS41609.1	11	.	.	.	.	.	.	.	.	.	.	C	5.828	0.337084	0.11013	.	.	ENSG00000221996	ENST00000408920	T	0.03035	4.07	5.28	1.31	0.21738	GPCR, rhodopsin-like superfamily (1);	0.550372	0.16734	N	0.201725	T	0.03564	0.0102	L	0.38838	1.175	0.09310	N	1	B	0.28378	0.209	B	0.31245	0.126	T	0.38779	-0.9645	10	0.66056	D	0.02	.	5.2358	0.15445	0.0:0.47:0.2104:0.3196	.	83	Q8NGK2	O52B4_HUMAN	S	83	ENSP00000386160:A83S	ENSP00000386160:A83S	A	-	1	0	OR52B4	4345855	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-0.588000	0.05774	0.393000	0.25203	-0.143000	0.13931	GCC	OR52B4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221996		0.527	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B4	HGNC	protein_coding	OTTHUMT00000334449.3	-	0	48	0	C	NM_001005161		4389279	-1	tier1	-	no_errors	ENST00000408920	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.000	A	A	4389279	C	A	4389279	3	1	29	1	0	0	0	0	1	0	0	0	11151	739	26	3	701	3	OR52B4	11	4389279	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	3303472	4389279	130617237	97	7197											
FAM160A2	84067	genome.wustl.edu	37	chr11	6238828	6238828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccatgccctcggagatgCcctctagcagttccccagct	6	9	9	17	1	1	1	0	0	1	1	3	2	2	1	5	1	5	3	5	1	1	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:6238828C>T	ENST00000449352.2	-	9	2251	c.1988G>A	c.(1987-1989)gGc>gAc	p.G663D	FAM160A2_ENST00000529360.1_5'Flank|FAM160A2_ENST00000265978.4_Missense_Mutation_p.G677D|FAM160A2_ENST00000524416.1_Missense_Mutation_p.G663D			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	663					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTCGGAGATGCCCTCTAGCAG	0.622																																																	0													88	90	90					11																	6238828		2201	4296	6497	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1988G>A	11.37:g.6238828C>T	ENSP00000416918:p.Gly663Asp		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.G677D	ENST00000449352.2	37	c.2030	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	9.201	1.028464	0.19512	.	.	ENSG00000051009	ENST00000449352;ENST00000442917;ENST00000265978;ENST00000524416	T;T;T	0.40756	1.02;1.02;1.02	5.11	4.2	0.49525	.	0.320207	0.38217	N	0.001778	T	0.22437	0.0541	N	0.08118	0	0.28890	N	0.893896	B;B;B	0.25105	0.002;0.0;0.118	B;B;B	0.30401	0.003;0.001;0.115	T	0.19712	-1.0297	10	0.12103	T	0.63	-13.2804	10.7758	0.46348	0.0:0.9115:0.0:0.0885	.	663;663;677	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	D	663;588;677;663	ENSP00000416918:G663D;ENSP00000265978:G677D;ENSP00000431773:G663D	ENSP00000265978:G677D	G	-	2	0	FAM160A2	6195404	0.807000	0.29009	0.912000	0.35992	0.678000	0.39670	2.214000	0.42853	1.392000	0.46585	0.561000	0.74099	GGC	FAM160A2	-	NULL	ENSG00000051009		0.622	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0	56	0	C	NM_032127		6238828	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.926	T	T	6238828	C	T	6238828	3	4	29	1	0	0	0	0	1	0	0	0	5488	739	26	3	946	3	FAM160A2	11	6238828	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	1849549	6238828	128767688	98	7198											
RAG1	5896	genome.wustl.edu	37	chr11	36596847	36596847	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttatgctggcagatGagtctgaccacgagacgctg	8	10	13	10	2	1	4	0	2	1	2	1	5	1	4	2	1	2	3	2	1	1	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:36596847G>T	ENST00000299440.5	+	2	2105	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	665					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E665*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GCTGGCAGATGAGTCTGACCA	0.478									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												1	Substitution - Nonsense(1)	large_intestine(1)											70	63	65					11																	36596847		2202	4298	6500	SO:0001587	stop_gained	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1993G>T	11.37:g.36596847G>T	ENSP00000299440:p.Glu665*		E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.E665*	ENST00000299440.5	37	c.1993	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.492805	0.96339	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5176	0.99214	0.0:0.0:1.0:0.0	.	.	.	.	X	665	.	ENSP00000299440:E665X	E	+	1	0	RAG1	36553423	1.000000	0.71417	0.995000	0.50966	0.493000	0.33554	9.476000	0.97823	2.852000	0.98041	0.644000	0.83932	GAG	RAG1	-	NULL	ENSG00000166349		0.478	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1		0	32	0	G	NM_000448		36596847	1			no_errors	ENST00000299440	ensembl	human	known	74_37	nonsense	5.26	35	2	SNP	1.000	T	T	36596847	G	T	36596847	4	4	29	1	0	0	0	0	0	1	0	0	13048	1291	45	3	1995	3	RAG1	11	36596847	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	30358019	36596847	98409669	99	7199											
DTX4	23220	genome.wustl.edu	37	chr11	58972233	58972233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcgagtcagacaccGtcatctggaatgaggtccac	11	6	11	13	2	3	2	2	1	1	1	4	4	4	3	3	3	0	0	3	3	1	0	rs376862310		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:58972233G>A	ENST00000227451.3	+	9	1815	c.1711G>A	c.(1711-1713)Gtc>Atc	p.V571I	DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	571					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.V465I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTCAGACACCGTCATCTGGAA	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)						G	ILE/VAL	0,4260		0,0,2130	76	77	77		1711	5.4	1	11		77	1,8515		0,1,4257	no	missense	DTX4	NM_015177.1	29	0,1,6387	AA,AG,GG		0.0117,0.0,0.0078	probably-damaging	571/620	58972233	1,12775	2130	4258	6388	SO:0001583	missense	0			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1711G>A	11.37:g.58972233G>A	ENSP00000227451:p.Val571Ile		Q0VF38	Missense_Mutation	SNP	pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.V571I	ENST00000227451.3	37	c.1711	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425456	0.83667	0.0	1.17E-4	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.53423	0.62;0.62	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.54908	1.71	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.63532	-0.6616	10	0.46703	T	0.11	.	18.0339	0.89293	0.0:0.0:1.0:0.0	.	571	Q9Y2E6	DTX4_HUMAN	I	465;571	ENSP00000434055:V465I;ENSP00000227451:V571I	ENSP00000227451:V571I	V	+	1	0	DTX4	58728809	1.000000	0.71417	0.953000	0.39169	0.323000	0.28346	9.869000	0.99810	2.565000	0.86533	0.591000	0.81541	GTC	DTX4	-	NULL	ENSG00000110042		0.532	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	HGNC	protein_coding	OTTHUMT00000394228.1		0	34	0	G	XM_166213		58972233	1			no_errors	ENST00000227451	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	58972233	G	A	58972233	3	1	29	1	0	0	0	0	1	0	0	0	4811	1145	40	1	1745	1	DTX4	11	58972233	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	22375386	58972233	76034283	100	7200											
CATSPER1	117144	genome.wustl.edu	37	chr11	65784565	65784565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacaatctcatcgatgacgGctgcctgggagcggaacttc	9	8	11	13	3	1	1	1	1	1	0	4	4	1	3	2	3	3	1	2	3	2	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:65784565G>A	ENST00000312106.5	-	11	2419	c.2282C>T	c.(2281-2283)gCc>gTc	p.A761V		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	761					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATCGATGACGGCTGCCTGGGA	0.642																																																	0													54	47	50					11																	65784565		2201	4296	6497	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2282C>T	11.37:g.65784565G>A	ENSP00000309052:p.Ala761Val		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.A761V	ENST00000312106.5	37	c.2282	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956943	0.53293	.	.	ENSG00000175294	ENST00000312106	D	0.96967	-4.19	5.39	-0.128	0.13506	.	2.222500	0.02681	U	0.109700	D	0.90021	0.6884	N	0.19112	0.55	0.09310	N	1	P	0.37864	0.61	B	0.34824	0.19	D	0.84590	0.0666	10	0.18276	T	0.48	-0.0083	2.499	0.04629	0.1624:0.2942:0.4085:0.1349	.	761	Q8NEC5	CTSR1_HUMAN	V	761	ENSP00000309052:A761V	ENSP00000309052:A761V	A	-	2	0	CATSPER1	65541141	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.637000	0.24659	-0.292000	0.08999	-0.163000	0.13421	GCC	CATSPER1	-	NULL	ENSG00000175294		0.642	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1		0	24	0	G	NM_053054		65784565	-1			no_errors	ENST00000312106	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.000	A	A	65784565	G	A	65784565	3	1	29	1	0	0	0	0	1	0	0	0	2694	1203	42	3	68	3	CATSPER1	11	65784565	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	6812332	65784565	69221951	101	7201											
RPS6KB2	6199	genome.wustl.edu	37	chr11	67202559	67202559	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccaccgccgccgccCtcgaccaccgcccctctccc	3	5	6	27	5	1	0	0	0	1	0	4	1	2	0	11	0	1	0	11	0	0	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:67202559C>A	ENST00000312629.5	+	15	1413	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	456	Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			cgccgccgccctcgaccaccg	0.706																																																	0													13	20	18					11																	67202559		1913	4100	6013	SO:0001819	synonymous_variant	0			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"ribosomal protein S6 kinase, 70kD, polypeptide 2"			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1368C>A	11.37:g.67202559C>A			B2RMZ9|B4DML8|O94809|Q9UEC1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom	p.P456	ENST00000312629.5	37	c.1368	CCDS41677.1	11																																																																																			RPS6KB2	-	pirsf_Ribosomal_S6_kinase	ENSG00000175634		0.706	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1		0	33	0	C	NM_003952		67202559	1			no_errors	ENST00000312629	ensembl	human	known	74_37	silent	8.06	57	5	SNP	0.025	A	A	67202559	C	A	67202559	2	1	29	1	0	0	0	0	0	0	0	1	13702	668	24	3		3	RPS6KB2	11	67202559	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	1417994	67202559	67803957	102	7202											
LRP5	4041	genome.wustl.edu	37	chr11	68181296	68181296	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcggccggaaccgcaccctCatccagggccacctggactt	8	5	11	17	3	1	0	1	0	0	0	2	2	2	2	6	4	2	1	6	4	1	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:68181296C>G	ENST00000294304.7	+	12	2749	c.2643C>G	c.(2641-2643)ctC>ctG	p.L881L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	881	Beta-propeller 3.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCGCACCCTCATCCAGGGCC	0.582																																																	0													90	79	83					11																	68181296		2200	4294	6494	SO:0001819	synonymous_variant	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2643C>G	11.37:g.68181296C>G			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L881	ENST00000294304.7	37	c.2643	CCDS8181.1	11																																																																																			LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt	ENSG00000162337		0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	-	0	32	0	C	NM_002335		68181296	1	tier1	-	no_errors	ENST00000294304	ensembl	human	known	74_37	silent	25.42	44	15	SNP	0.998	G	G	68181296	C	G	68181296	2	3	29	1	0	0	0	0	0	0	0	1	8995	813	29	5		5	LRP5	11	68181296	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	978737	68181296	66825220	103	7203											
MYO7A	4647	genome.wustl.edu	37	chr11	76915260	76915260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctgaagcagctgacCgacaaccacatcaggtgagc	13	5	10	13	1	1	4	1	3	0	1	2	5	2	4	3	1	4	2	3	1	2	0	rs548620787		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:76915260C>T	ENST00000409709.3	+	39	5738	c.5466C>T	c.(5464-5466)acC>acT	p.T1822T	MYO7A_ENST00000409619.2_Silent_p.T1773T|MYO7A_ENST00000458637.2_Silent_p.T1784T|MYO7A_ENST00000605744.1_3'UTR	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1822	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGCAGCTGACCGACAACCACA	0.617													C|||	1	0.000199681	0	0	5008	,	,		21687	0.001		0	False		,,,				2504	0																0													41	43	43					11																	76915260		2123	4231	6354	SO:0001819	synonymous_variant	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5466C>T	11.37:g.76915260C>T			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.T1822	ENST00000409709.3	37	c.5466	CCDS53683.1	11																																																																																			MYO7A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000137474		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	38	0	C	NM_000260		76915260	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.002	T	T	76915260	C	T	76915260	2	4	29	1	0	0	0	0	0	0	0	1	10120	639	23	1		1	MYO7A	11	76915260	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	8733964	76915260	58091256	104	7204											
DPAGT1	1798	genome.wustl.edu	37	chr11	118971800	118971800	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagggatgaagcagaaGaggatgataaggaaaacagc	19	3	16	3	0	0	4	0	2	0	2	0	8	0	8	0	4	3	1	0	4	6	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:118971800G>T	ENST00000409993.2	-	4	1761	c.210C>A	c.(208-210)ctC>ctA	p.L70L	DPAGT1_ENST00000354202.4_Silent_p.L70L|DPAGT1_ENST00000445653.1_Intron|DPAGT1_ENST00000432443.2_Intron			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	70					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TGAAGCAGAAGAGGATGATAA	0.567											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66	57	60					11																	118971800		2200	4295	6495	SO:0001819	synonymous_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.210C>A	11.37:g.118971800G>T		1492	O15216|Q86WV9|Q9BWE6	Silent	SNP	pfam_Glycosyl_transferase_4	p.L70	ENST00000409993.2	37	c.210	CCDS8411.1	11																																																																																			DPAGT1	-	NULL	ENSG00000172269		0.567	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPAGT1	HGNC	protein_coding	OTTHUMT00000331527.2		0	43	0	G	NM_001382		118971800	-1			no_errors	ENST00000354202	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	T	T	118971800	G	T	118971800	2	4	29	1	0	0	0	0	0	0	0	1	4724	929	33	3		3	DPAGT1	11	118971800	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	42056540	118971800	16034716	105	7205											
ZNF202	7753	genome.wustl.edu	37	chr11	123600376	123600376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggacgctgctctgccGgtgcccccagatctgggctc	3	9	15	14	2	2	1	0	0	2	1	3	2	2	2	3	4	3	3	3	4	0	0	rs201276058		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr11:123600376G>A	ENST00000529691.1	-	3	779	c.560C>T	c.(559-561)cCg>cTg	p.P187L	ZNF202_ENST00000336139.4_Missense_Mutation_p.P187L|ZNF202_ENST00000530393.1_Missense_Mutation_p.P187L			O95125	ZN202_HUMAN	zinc finger protein 202	187					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGCTCTGCCGGTGCCCCCAG	0.612													G|||	1	0.000199681	0	0	5008	,	,		16418	0.001		0	False		,,,				2504	0																0								G	LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	55	49	51		560	-1.4	0	11		51	0,8598		0,0,4299	no	missense	ZNF202	NM_003455.2	98	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	187/649	123600376	1,13001	2202	4299	6501	SO:0001583	missense	0			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.560C>T	11.37:g.123600376G>A	ENSP00000433881:p.Pro187Leu		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P187L	ENST00000529691.1	37	c.560	CCDS8443.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.329	-0.136981	0.06711	2.27E-4	0.0	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.06371	3.31;3.31;3.31	4.79	-1.44	0.08856	.	1.705530	0.03355	N	0.196814	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40831	-0.9542	10	0.29301	T	0.29	0.5618	3.7929	0.08728	0.4472:0.0:0.3839:0.1689	.	187	O95125	ZN202_HUMAN	L	187	ENSP00000337724:P187L;ENSP00000432504:P187L;ENSP00000433881:P187L	ENSP00000337724:P187L	P	-	2	0	ZNF202	123105586	0.000000	0.05858	0.001000	0.08648	0.289000	0.27227	-0.309000	0.08145	-0.096000	0.12329	0.557000	0.71058	CCG	ZNF202	-	NULL	ENSG00000166261		0.612	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1		0	20	0	G	NM_003455		123600376	-1			no_errors	ENST00000336139	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.000	A	A	123600376	G	A	123600376	3	1	29	1	0	0	0	0	1	0	0	0	17811	1116	39	1	1406	1	ZNF202	11	123600376	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	4628576	123600376	11406140	106	7206											
GXYLT1	283464	genome.wustl.edu	37	chr12	42499824	42499824	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaactggtcgtaaaaaaagGatatcagtgtcgacatacaa	17	9	8	7	2	2	0	2	0	0	0	4	2	2	1	0	2	2	1	0	2	8	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr12:42499824G>T	ENST00000398675.3	-	5	892	c.660C>A	c.(658-660)atC>atA	p.I220I	GXYLT1_ENST00000280876.6_Silent_p.I189I	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	220					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTAAAAAAAGGATATCAGTGT	0.323																																																	0													81	77	78					12																	42499824		1831	4091	5922	SO:0001819	synonymous_variant	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.660C>A	12.37:g.42499824G>T			B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	pfam_Glyco_trans_8	p.I220	ENST00000398675.3	37	c.660	CCDS41772.1	12																																																																																			GXYLT1	-	pfam_Glyco_trans_8	ENSG00000151233		0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	-	0	59	0	G	XM_290597		42499824	-1	tier1	-	no_errors	ENST00000398675	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.998	T	T	42499824	G	T	42499824	2	4	29	1	0	0	0	0	0	0	0	1	6930	1164	41	3		3	GXYLT1	12	42499824	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		42499824	91352071	107	7207											
NACA	4666	genome.wustl.edu	37	chr12	57111653	57111653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagggaggagttgcagctgGggttgtgggggcccctttgg	4	9	22	6	0	0	0	0	0	0	0	0	3	0	3	2	8	2	4	2	8	0	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr12:57111653G>T	ENST00000454682.1	-	3	3942	c.3661C>A	c.(3661-3663)Cca>Aca	p.P1221T	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1221	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTTGCAGCTGGGGTTGTGGGG	0.647			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													60	75	70					12																	57111653		1116	2677	3793	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3661C>A	12.37:g.57111653G>T	ENSP00000403817:p.Pro1221Thr			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.P1221T	ENST00000454682.1	37	c.3661		12	.	.	.	.	.	.	.	.	.	.	G	5.397	0.258384	0.10239	.	.	ENSG00000196531	ENST00000454682	T	0.47528	0.84	3.18	-3.18	0.05186	.	.	.	.	.	T	0.24547	0.0595	.	.	.	0.09310	N	1	B	0.25486	0.127	B	0.23275	0.045	T	0.18023	-1.0350	7	.	.	.	.	4.521	0.11959	0.3604:0.2846:0.355:0.0	.	1221	E9PAV3	.	T	1221	ENSP00000403817:P1221T	.	P	-	1	0	NACA	55397920	0.000000	0.05858	0.000000	0.03702	0.200000	0.23975	-0.482000	0.06544	-0.663000	0.05331	0.186000	0.17326	CCA	NACA	-	NULL	ENSG00000196531		0.647	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0	29	0	G	NM_005594		57111653	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T	T	57111653	G	T	57111653	3	4	29	1	0	0	0	0	1	0	0	0	10171	1232	43	3	2603	3	NACA	12	57111653	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	14611829	57111653	76740242	108	7208											
DTX1	1840	genome.wustl.edu	37	chr12	113533166	113533166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccgggaagaagttcaccGcaagaggattccctcgccac	11	5	10	15	3	1	2	1	0	0	2	3	4	2	4	5	2	0	2	5	2	3	2	rs537324019		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr12:113533166G>A	ENST00000257600.3	+	8	2088	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	529					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGTTCACCGCAAGAGGATT	0.607													G|||	1	0.000199681	0	0.0014	5008	,	,		17957	0		0	False		,,,				2504	0																0													72	76	75					12																	113533166		2203	4300	6503	SO:0001583	missense	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"deltex homolog 1 (Drosophila)"			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1585G>A	12.37:g.113533166G>A	ENSP00000257600:p.Ala529Thr		O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.A529T	ENST00000257600.3	37	c.1585	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265069	0.80358	.	.	ENSG00000135144	ENST00000257600	T	0.59502	0.26	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.74389	2.26	0.80722	D	1	P	0.47677	0.899	P	0.48738	0.588	T	0.74084	-0.3779	10	0.87932	D	0	3.033	16.305	0.82844	0.0:0.0:1.0:0.0	.	529	Q86Y01	DTX1_HUMAN	T	529	ENSP00000257600:A529T	ENSP00000257600:A529T	A	+	1	0	DTX1	112017549	1.000000	0.71417	0.602000	0.28890	0.927000	0.56198	9.681000	0.98653	2.114000	0.64651	0.561000	0.74099	GCA	DTX1	-	NULL	ENSG00000135144		0.607	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	-	0	75	0	G			113533166	1	tier1	-	no_errors	ENST00000257600	ensembl	human	known	74_37	missense	7.06	79	6	SNP	0.999	A	A	113533166	G	A	113533166	3	1	29	1	0	0	0	0	1	0	0	0	4807	1087	38	1	1615	1	DTX1	12	113533166	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	56421513	113533166	20318729	109	7209											
DNAH10	196385	genome.wustl.edu	37	chr12	124358117	124358117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttcagattgtgttaatgGtcaacttctcctcccgcacc	7	14	7	13	1	3	1	2	0	1	1	5	1	4	1	3	1	2	3	3	1	2	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr12:124358117G>T	ENST00000409039.3	+	45	7469	c.7444G>T	c.(7444-7446)Gtc>Ttc	p.V2482F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2482	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGTGTTAATGGTCAACTTCTC	0.428																																																	0													84	78	80					12																	124358117		1929	4142	6071	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7444G>T	12.37:g.124358117G>T	ENSP00000386770:p.Val2482Phe		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.V2482F	ENST00000409039.3	37	c.7444	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484483	0.63962	.	.	ENSG00000197653	ENST00000409039	T	0.42900	0.96	4.94	4.05	0.47172	ATPase, AAA+ type, core (1);	0.177715	0.36893	U	0.002342	T	0.38506	0.1043	L	0.39147	1.195	0.41422	D	0.987804	P	0.41188	0.741	P	0.48334	0.574	T	0.14924	-1.0455	10	0.29301	T	0.29	.	6.4551	0.21926	0.3215:0.0:0.6785:0.0	.	2482	Q8IVF4	DYH10_HUMAN	F	2482	ENSP00000386770:V2482F	ENSP00000386770:V2482F	V	+	1	0	DNAH10	122924070	1.000000	0.71417	0.200000	0.23457	0.846000	0.48090	6.261000	0.72509	1.218000	0.43458	0.561000	0.74099	GTC	DNAH10	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197653		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	70	0	G			124358117	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.985	T	T	124358117	G	T	124358117	3	4	29	1	0	0	0	0	1	0	0	0	4612	1261	44	3	7622	3	DNAH10	12	124358117	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	10824951	124358117	9493778	110	7210											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20237216	20237216	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctattcttttggaagcaGgagcttttgtaaatgtccag	9	15	11	6	0	1	0	0	0	1	0	2	2	2	2	1	3	2	4	1	3	4	7			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr13:20237216G>T	ENST00000361479.5	+	9	2037	c.1969G>T	c.(1969-1971)Gga>Tga	p.G657*	MPHOSPH8_ENST00000414242.2_Nonsense_Mutation_p.G657*	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	657					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TTTGGAAGCAGGAGCTTTTGT	0.373																																																	0													126	131	129					13																	20237216		2203	4300	6503	SO:0001587	stop_gained	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1969G>T	13.37:g.20237216G>T	ENSP00000355388:p.Gly657*		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.G657*	ENST00000361479.5	37	c.1969	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	37	6.162857	0.97338	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	.	.	.	5.33	4.48	0.54585	.	0.111123	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9377	0.64034	0.0734:0.0:0.9266:0.0	.	.	.	.	X	657	.	ENSP00000355388:G657X	G	+	1	0	MPHOSPH8	19135216	1.000000	0.71417	0.870000	0.34147	0.467000	0.32768	9.121000	0.94375	1.239000	0.43787	0.555000	0.69702	GGA	MPHOSPH8	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000196199		0.373	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0	63	0	G	NM_017520		20237216	1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.998	T	T	20237216	G	T	20237216	4	4	29	1	0	0	0	0	0	1	0	0	9765	1001	35	3	2003	3	MPHOSPH8	13	20237216	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		20237216	94932662	111	7211											
SACS	26278	genome.wustl.edu	37	chr13	23912853	23912853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggtgtgttcaatgctttgGaagagcaggattttttttta	9	17	11	4	0	1	1	1	0	0	1	1	3	1	3	0	3	2	3	0	3	3	7			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr13:23912853G>T	ENST00000382292.3	-	9	5435	c.5162C>A	c.(5161-5163)tCc>tAc	p.S1721Y	SACS_ENST00000402364.1_Missense_Mutation_p.S971Y|SACS_ENST00000382298.3_Missense_Mutation_p.S1721Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1721					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S1574F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAATGCTTTGGAAGAGCAGGA	0.368																																																	1	Substitution - Missense(1)	lung(1)											46	47	47					13																	23912853		2202	4299	6501	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5162C>A	13.37:g.23912853G>T	ENSP00000371729:p.Ser1721Tyr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.S1721Y	ENST00000382292.3	37	c.5162	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405924	0.62288	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88354	-2.23;-2.37;-2.23	5.78	5.78	0.91487	.	0.057543	0.64402	D	0.000001	D	0.88573	0.6473	L	0.60455	1.87	0.58432	D	0.999995	B	0.15930	0.015	B	0.16722	0.016	D	0.83872	0.0274	10	0.56958	D	0.05	.	20.0067	0.97435	0.0:0.0:1.0:0.0	.	1721	Q9NZJ4	SACS_HUMAN	Y	1721;971;1721	ENSP00000371729:S1721Y;ENSP00000385844:S971Y;ENSP00000371735:S1721Y	ENSP00000371729:S1721Y	S	-	2	0	SACS	22810853	1.000000	0.71417	0.979000	0.43373	0.038000	0.13279	6.242000	0.72376	2.725000	0.93324	0.609000	0.83330	TCC	SACS	-	NULL	ENSG00000151835		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0	44	0	G	NM_014363		23912853	-1			no_errors	ENST00000382292	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	23912853	G	T	23912853	3	4	29	1	0	0	0	0	1	0	0	0	13849	1174	41	3	8581	3	SACS	13	23912853	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	3675637	23912853	91257025	112	7212											
HSPH1	10808	genome.wustl.edu	37	chr13	31725823	31725823	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacaaaaaccactatccGaggtttctcatccaggcttg	13	10	6	12	1	2	0	2	0	1	0	5	1	4	0	3	2	2	2	3	2	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr13:31725823G>T	ENST00000320027.5	-	6	930	c.586C>A	c.(586-588)Cgg>Agg	p.R196R	HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380405.4_Silent_p.R196R|HSPH1_ENST00000445273.2_Silent_p.R198R|HSPH1_ENST00000380406.5_Silent_p.R155R	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	196					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACCACTATCCGAGGTTTCTCA	0.358																																																	0													79	74	76					13																	31725823		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.586C>A	13.37:g.31725823G>T			B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R198	ENST00000320027.5	37	c.592	CCDS9340.1	13																																																																																			HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000120694		0.358	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1		0	70	0	G			31725823	-1			no_errors	ENST00000445273	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.998	T	T	31725823	G	T	31725823	2	4	29	1	0	0	0	0	0	0	0	1	7458	1057	37	2		2	HSPH1	13	31725823	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	7812970	31725823	83444055	113	7213											
ZC3H13	23091	genome.wustl.edu	37	chr13	46559734	46559734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgagtcccgcatgtctctgGagtctcttagttcccttcgg	4	15	10	12	2	2	1	0	1	2	0	7	2	4	2	2	2	0	2	2	2	1	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr13:46559734G>T	ENST00000242848.4	-	10	1766	c.1418C>A	c.(1417-1419)tCc>tAc	p.S473Y	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S473Y			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	473	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CATGTCTCTGGAGTCTCTTAG	0.522																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													202	196	198					13																	46559734		2203	4300	6503	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1418C>A	13.37:g.46559734G>T	ENSP00000242848:p.Ser473Tyr		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S473Y	ENST00000242848.4	37	c.1418		13	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752833	0.49362	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.34859	2.34;1.34	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000009	T	0.52289	0.1725	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.956;0.98	T	0.50750	-0.8791	10	0.62326	D	0.03	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	473;473	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Y	473;473;289	ENSP00000242848:S473Y;ENSP00000282007:S473Y	ENSP00000242848:S473Y	S	-	2	0	ZC3H13	45457735	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.660000	0.83776	2.752000	0.94435	0.655000	0.94253	TCC	ZC3H13	-	NULL	ENSG00000123200		0.522	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0	53	0	G	NM_015070		46559734	-1			no_errors	ENST00000242848	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	46559734	G	T	46559734	3	4	29	1	0	0	0	0	1	0	0	0	17613	1174	41	3	3308	3	ZC3H13	13	46559734	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	14833911	46559734	68610144	114	7214											
CLDN10	9071	genome.wustl.edu	37	chr13	96230262	96230262	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgataaaaatgcttaTgtctaaaagagctcgctggc	13	12	9	7	1	1	2	0	1	1	1	2	2	1	2	0	1	2	4	0	1	6	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr13:96230262T>C	ENST00000299339.2	+	5	710	c.681T>C	c.(679-681)taT>taC	p.Y227Y	CLDN10_ENST00000376873.3_Silent_p.Y225Y	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	227					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			AAAATGCTTATGTCTAAAAGA	0.403																																																	0													61	60	61					13																	96230262		2203	4300	6503	SO:0001819	synonymous_variant	0			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"Claudins"	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.681T>C	13.37:g.96230262T>C			Q6IBF9|Q96N78	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin10,prints_Claudin	p.Y227	ENST00000299339.2	37	c.681	CCDS9476.1	13																																																																																			CLDN10	-	NULL	ENSG00000134873		0.403	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN10	HGNC	protein_coding	OTTHUMT00000045484.1	-	0	78	0	T	NM_006984		96230262	1	tier1	-	no_errors	ENST00000299339	ensembl	human	known	74_37	silent	61.54	20	32	SNP	0.992	C	C	96230262	T	C	96230262	2	2	29	1	0	0	0	0	0	0	0	1	3479	1471	51	4		4	CLDN10	13	96230262	Silent	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	49670528	96230262	18939616	115	7215											
ZIC2	7546	genome.wustl.edu	37	chr13	100637594	100637594	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtccatgagtcctccccGcagggctctgaatcctcccc	6	8	9	18	1	1	2	0	2	1	0	6	2	6	2	7	2	0	2	7	2	1	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr13:100637594G>A	ENST00000376335.3	+	3	1550	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	419					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGTCCTCCCCGCAGGGCTCTG	0.711																																					Pancreas(97;119 1522 31925 44771 48764)												0													13	17	16					13																	100637594		1962	4191	6153	SO:0001819	synonymous_variant	0			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1257G>A	13.37:g.100637594G>A			Q5VYA9|Q9H309	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P419	ENST00000376335.3	37	c.1257	CCDS9495.1	13																																																																																			ZIC2	-	pfscan_Znf_C2H2	ENSG00000043355		0.711	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2	-	0	44	0	G	NM_007129		100637594	1	tier1	-	no_errors	ENST00000376335	ensembl	human	known	74_37	silent	10.00	35	4	SNP	0.534	A	A	100637594	G	A	100637594	2	1	29	1	0	0	0	0	0	0	0	1	17727	1074	38	1		1	ZIC2	13	100637594	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	4407332	100637594	14532284	116	7216											
OR11H12	440153	genome.wustl.edu	37	chr14	19377922	19377922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaaacatctcctttgCtggatgttttctccagtttt	11	16	6	8	0	2	0	0	0	2	0	4	2	2	1	2	1	2	3	2	1	4	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr14:19377922C>A	ENST00000550708.1	+	1	401	c.329C>A	c.(328-330)gCt>gAt	p.A110D		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTCCTTTGCTGGATGTTTT	0.393																																																	0													3	3	3					14																	19377922		967	2292	3259	SO:0001583	missense	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.329C>A	14.37:g.19377922C>A	ENSP00000449002:p.Ala110Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A110D	ENST00000550708.1	37	c.329	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	c	9.041	0.989724	0.18966	.	.	ENSG00000257115	ENST00000550708	T	0.00397	7.57	.	.	.	GPCR, rhodopsin-like superfamily (1);	0.852275	0.09602	N	0.780095	T	0.00300	0.0009	L	0.43554	1.36	0.26015	N	0.981949	P	0.42248	0.774	B	0.41135	0.348	T	0.42666	-0.9438	8	0.48119	T	0.1	.	6.4784	0.22049	0.0:0.9998:0.0:2.0E-4	.	110	B2RN74	O11HC_HUMAN	D	110	ENSP00000449002:A110D	ENSP00000449002:A110D	A	+	2	0	CR383656.1	18447922	0.000000	0.05858	0.209000	0.23619	0.120000	0.20174	-0.305000	0.08188	0.413000	0.25759	0.064000	0.15345	GCT	OR11H12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000257115		0.393	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	-	0	128	0	C	NM_001013354		19377922	1	tier1	-	no_errors	ENST00000550708	ensembl	human	known	74_37	missense	16.35	132	26	SNP	0.015	A	A	19377922	C	A	19377922	3	1	29	1	0	0	0	0	1	0	0	0	10966	797	28	3	331	3	OR11H12	14	19377922	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09		19377922	87971618	117	7217											
OR6S1	341799	genome.wustl.edu	37	chr14	21109382	21109382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgtgggaccaagcacagGgacgagtccccccacccagc	10	3	11	17	1	0	0	0	0	0	0	1	3	1	2	5	2	2	1	5	2	1	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr14:21109382G>T	ENST00000320704.3	-	1	468	c.469C>A	c.(469-471)Cct>Act	p.P157T		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCAAGCACAGGGACGAGTCCC	0.612																																																	0													81	66	71					14																	21109382		2203	4300	6503	SO:0001583	missense	0			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"GPCR / Class A : Olfactory receptors"	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.469C>A	14.37:g.21109382G>T	ENSP00000313110:p.Pro157Thr		Q6IFJ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P157T	ENST00000320704.3	37	c.469	CCDS32038.1	14	.	.	.	.	.	.	.	.	.	.	G	3.411	-0.120285	0.06838	.	.	ENSG00000181803	ENST00000320704	T	0.36157	1.27	5.76	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000160	T	0.14013	0.0339	N	0.00510	-1.415	0.22253	N	0.999256	B	0.23377	0.084	B	0.29524	0.103	T	0.22521	-1.0214	10	0.30854	T	0.27	-12.1976	14.572	0.68218	0.0:0.1472:0.8528:0.0	.	157	Q8NH40	OR6S1_HUMAN	T	157	ENSP00000313110:P157T	ENSP00000313110:P157T	P	-	1	0	OR6S1	20179222	0.000000	0.05858	0.961000	0.40146	0.555000	0.35460	-0.042000	0.12063	1.412000	0.46977	0.655000	0.94253	CCT	OR6S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181803		0.612	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	HGNC	protein_coding	OTTHUMT00000411227.1		0	43	0	G			21109382	-1			no_errors	ENST00000320704	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.444	T	T	21109382	G	T	21109382	3	4	29	1	0	0	0	0	1	0	0	0	11248	1232	43	3	530	3	OR6S1	14	21109382	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1731460	21109382	86240158	118	7218											
SUPT16H	11198	genome.wustl.edu	37	chr14	21840137	21840137	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttttttcttgctggccaTaaagatgattttgtcatcac	9	17	6	9	0	3	2	2	1	1	1	3	2	3	2	1	1	1	1	1	1	2	7			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr14:21840137T>C	ENST00000216297.2	-	3	564	c.226A>G	c.(226-228)Atg>Gtg	p.M76V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	76					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTGCTGGCCATAAAGATGATT	0.398																																																	0													110	94	100					14																	21840137		2203	4300	6503	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.226A>G	14.37:g.21840137T>C	ENSP00000216297:p.Met76Val		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.M76V	ENST00000216297.2	37	c.226	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635835	0.47049	.	.	ENSG00000092201	ENST00000216297;ENST00000538230	.	.	.	5.51	5.51	0.81932	.	0.043982	0.85682	D	0.000000	T	0.41351	0.1155	N	0.16166	0.38	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.24083	-1.0170	9	0.27785	T	0.31	-23.7691	14.9059	0.70718	0.0:0.0:0.0:1.0	.	76	Q9Y5B9	SP16H_HUMAN	V	76	.	ENSP00000216297:M76V	M	-	1	0	SUPT16H	20909977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.743000	0.62110	2.225000	0.72522	0.533000	0.62120	ATG	SUPT16H	-	NULL	ENSG00000092201		0.398	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2	-	0	74	0	T			21840137	-1	tier1	-	no_errors	ENST00000216297	ensembl	human	known	74_37	missense	20.69	92	24	SNP	1.000	C	C	21840137	T	C	21840137	3	2	29	1	0	0	0	0	1	0	0	0	15443	1406	49	4	3013	4	SUPT16H	14	21840137	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	730755	21840137	85509403	119	7219											
L2HGDH	79944	genome.wustl.edu	37	chr14	50750625	50750625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggactttctttagccatttCaataccttttacttcaaaat	12	17	3	9	0	3	0	2	0	1	0	3	1	3	1	2	1	3	0	2	1	6	8			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr14:50750625C>G	ENST00000267436.4	-	5	1064	c.667G>C	c.(667-669)Gaa>Caa	p.E223Q	L2HGDH_ENST00000555423.1_Missense_Mutation_p.E223Q|L2HGDH_ENST00000555610.1_3'UTR|L2HGDH_ENST00000421284.3_Missense_Mutation_p.E223Q|L2HGDH_ENST00000261699.4_Missense_Mutation_p.E223Q			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	223					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTAGCCATTTCAATACCTTTT	0.418																																																	0													87	91	90					14																	50750625		2203	4300	6503	SO:0001583	missense	0				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.667G>C	14.37:g.50750625C>G	ENSP00000267436:p.Glu223Gln		Q9BRR1	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.E223Q	ENST00000267436.4	37	c.667	CCDS9698.1	14	.	.	.	.	.	.	.	.	.	.	C	9.497	1.102165	0.20632	.	.	ENSG00000087299	ENST00000261699;ENST00000267436;ENST00000421284;ENST00000555423	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.43	2.48	0.30137	FAD dependent oxidoreductase (1);	0.580051	0.20585	N	0.089457	T	0.62380	0.2423	N	0.05554	-0.025	0.80722	D	1	B;B	0.19200	0.034;0.007	B;B	0.19666	0.026;0.016	T	0.49707	-0.8911	10	0.20519	T	0.43	-16.3461	6.6055	0.22724	0.0:0.5711:0.2181:0.2107	.	223;223	C9JVN9;Q9H9P8	.;L2HDH_HUMAN	Q	223	ENSP00000261699:E223Q;ENSP00000267436:E223Q;ENSP00000405559:E223Q;ENSP00000450494:E223Q	ENSP00000261699:E223Q	E	-	1	0	L2HGDH	49820375	0.998000	0.40836	1.000000	0.80357	0.825000	0.46686	0.513000	0.22770	0.788000	0.33755	0.455000	0.32223	GAA	L2HGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000087299		0.418	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	-	0	92	0	C	NM_024884		50750625	-1	tier1	-	no_errors	ENST00000267436	ensembl	human	known	74_37	missense	44.35	63	51	SNP	0.985	G	G	50750625	C	G	50750625	3	3	29	1	0	0	0	0	1	0	0	0	8618	835	29	5	748	5	L2HGDH	14	50750625	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	28910488	50750625	56598915	120	7220											
PCNX	22990	genome.wustl.edu	37	chr14	71502860	71502860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattcatgtaagcacagtcTtcacagtattgcaggtaagg	12	12	9	8	0	3	0	2	0	1	0	3	0	3	0	0	2	2	5	0	2	4	7			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr14:71502860T>A	ENST00000304743.2	+	19	4299	c.3853T>A	c.(3853-3855)Ttc>Atc	p.F1285I	PCNX_ENST00000238570.5_Missense_Mutation_p.F1285I|PCNX_ENST00000439984.3_Missense_Mutation_p.F1174I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1285						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGCACAGTCTTCACAGTATT	0.413																																																	0													258	222	234					14																	71502860		2203	4300	6503	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3853T>A	14.37:g.71502860T>A	ENSP00000304192:p.Phe1285Ile		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.F1285I	ENST00000304743.2	37	c.3853	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	T	19.24	3.789463	0.70337	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.15718	2.71;2.7;2.4	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.993	D;D;D	0.85130	0.985;0.997;0.977	T	0.56902	-0.7902	10	0.72032	D	0.01	.	15.5504	0.76148	0.0:0.0:0.0:1.0	.	1285;1174;1285	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	I	1285;1285;1174	ENSP00000304192:F1285I;ENSP00000238570:F1285I;ENSP00000396617:F1174I	ENSP00000238570:F1285I	F	+	1	0	PCNX	70572613	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.577000	0.82486	2.074000	0.62210	0.383000	0.25322	TTC	PCNX	-	NULL	ENSG00000100731		0.413	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0	62	0	T	NM_014982		71502860	1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	43.14	29	22	SNP	1.000	A	A	71502860	T	A	71502860	3	1	29	1	0	0	0	0	1	0	0	0	11630	1609	56	5	3927	5	PCNX	14	71502860	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	20752235	71502860	35846680	121	7221											
TRIP11	9321	genome.wustl.edu	37	chr14	92472172	92472172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctatctctcctttttcCatttttagagtctccacaat	7	18	3	13	0	3	1	0	0	3	1	7	1	5	1	4	0	0	0	4	0	3	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr14:92472172C>T	ENST00000267622.4	-	11	2521	c.2148G>A	c.(2146-2148)atG>atA	p.M716I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	716					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTCCTTTTTCCATTTTTAGAG	0.383			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													151	156	154					14																	92472172		2203	4300	6503	SO:0001583	missense	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2148G>A	14.37:g.92472172C>T	ENSP00000267622:p.Met716Ile		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.M716I	ENST00000267622.4	37	c.2148	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.051|0.051	-1.250343|-1.250343	0.01469|0.01469	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000554357|ENST00000267622;ENST00000542257	.|T	.|0.03831	.|3.79	6.16|6.16	2.24|2.24	0.28232|0.28232	.|.	.|0.741250	.|0.13964	.|N	.|0.350640	T|T	0.04272|0.04272	0.0118|0.0118	L|L	0.40543|0.40543	1.245|1.245	0.29940|0.29940	N|N	0.821185|0.821185	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.0;0.004	T|T	0.25710|0.25710	-1.0124|-1.0124	5|10	.|0.38643	.|T	.|0.18	.|.	4.143|4.143	0.10203|0.10203	0.1132:0.5962:0.1096:0.1809|0.1132:0.5962:0.1096:0.1809	.|.	.|452;716	.|F5H1Z0;Q15643	.|.;TRIPB_HUMAN	R|I	432|716;452	.|ENSP00000267622:M716I	.|ENSP00000267622:M716I	G|M	-|-	1|3	0|0	TRIP11|TRIP11	91541925|91541925	0.628000|0.628000	0.27138|0.27138	0.008000|0.008000	0.14137|0.14137	0.070000|0.070000	0.16714|0.16714	0.337000|0.337000	0.19841|0.19841	0.450000|0.450000	0.26774|0.26774	0.650000|0.650000	0.86243|0.86243	GGA|ATG	TRIP11	-	NULL	ENSG00000100815		0.383	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	-	0	28	0	C			92472172	-1	tier1	-	no_errors	ENST00000267622	ensembl	human	known	74_37	missense	32.76	39	19	SNP	0.765	T	T	92472172	C	T	92472172	3	4	29	1	0	0	0	0	1	0	0	0	16603	594	21	3	3835	3	TRIP11	14	92472172	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	20969312	92472172	14877368	122	7222											
SLC30A4	7782	genome.wustl.edu	37	chr15	45779787	45779787	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaagccacaagtaatGaaaatacgtatgtacagatg	18	10	8	5	1	0	2	0	1	0	1	0	2	0	2	1	0	3	4	1	0	9	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr15:45779787G>T	ENST00000261867.4	-	6	1252	c.938C>A	c.(937-939)tCa>tAa	p.S313*	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	313					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CACAAGTAATGAAAATACGTA	0.308																																																	0													135	144	141					15																	45779787		2198	4297	6495	SO:0001587	stop_gained	0				CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.938C>A	15.37:g.45779787G>T	ENSP00000261867:p.Ser313*		Q8TC39	Nonsense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.S313*	ENST00000261867.4	37	c.938	CCDS10125.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.508226	0.98325	.	.	ENSG00000104154	ENST00000261867	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7055	19.1349	0.93424	0.0:0.0:1.0:0.0	.	.	.	.	X	313	.	ENSP00000261867:S313X	S	-	2	0	SLC30A4	43567079	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	9.386000	0.97228	2.861000	0.98227	0.655000	0.94253	TCA	SLC30A4	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000104154		0.308	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A4	HGNC	protein_coding	OTTHUMT00000254236.1		0	57	0	G			45779787	-1			no_errors	ENST00000261867	ensembl	human	known	74_37	nonsense	5.05	94	5	SNP	1.000	T	T	45779787	G	T	45779787	4	4	29	1	0	0	0	0	0	1	0	0	14602	1294	45	3	363	3	SLC30A4	15	45779787	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		45779787	56751605	123	7223											
CILP	8483	genome.wustl.edu	37	chr15	65497712	65497712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagcaaatgcgtgtgcGagtctggaccccagtctgac	9	8	12	12	2	2	1	0	1	2	0	2	3	2	2	3	1	4	1	3	1	2	0	rs148331275		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr15:65497712G>T	ENST00000261883.4	-	5	683	c.517C>A	c.(517-519)Cgc>Agc	p.R173S		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	173	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ATGCGTGTGCGAGTCTGGACC	0.617																																																	0													97	77	84					15																	65497712		2201	4299	6500	SO:0001583	missense	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.517C>A	15.37:g.65497712G>T	ENSP00000261883:p.Arg173Ser		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R173S	ENST00000261883.4	37	c.517	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916694	0.92249	.	.	ENSG00000138615	ENST00000261883	T	0.80824	-1.42	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.91016	0.7174	M	0.85710	2.77	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.92033	0.5635	10	0.87932	D	0	-12.3091	18.5236	0.90963	0.0:0.0:1.0:0.0	.	173	O75339	CILP1_HUMAN	S	173	ENSP00000261883:R173S	ENSP00000261883:R173S	R	-	1	0	CILP	63284765	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	9.094000	0.94168	2.635000	0.89317	0.650000	0.86243	CGC	CILP	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000138615		0.617	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	-	0	42	0	G	NM_003613		65497712	-1	tier1	-	no_errors	ENST00000261883	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	65497712	G	T	65497712	3	4	29	1	0	0	0	0	1	0	0	0	3436	1058	37	2	3057	2	CILP	15	65497712	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	19717925	65497712	37033680	124	7224											
MEGF11	84465	genome.wustl.edu	37	chr15	66274821	66274821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcccccagtggtcgctgtCgcagcctgcaagagacggga	7	5	16	13	3	0	1	0	0	0	1	2	3	0	2	3	3	2	3	3	3	1	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr15:66274821C>T	ENST00000409699.2	-	6	572	c.400G>A	c.(400-402)Gac>Aac	p.D134N	MEGF11_ENST00000395625.2_Missense_Mutation_p.D59N|MEGF11_ENST00000360698.4_Missense_Mutation_p.D134N|MEGF11_ENST00000288745.3_Missense_Mutation_p.D59N|MEGF11_ENST00000422354.1_Missense_Mutation_p.D134N|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	134					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGTCGCTGTCGCAGCCTGCA	0.677																																																	0													5	7	6					15																	66274821		2003	4158	6161	SO:0001583	missense	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.400G>A	15.37:g.66274821C>T	ENSP00000386908:p.Asp134Asn		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.D134N	ENST00000409699.2	37	c.400	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228423	0.58777	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	3.73	2.8	0.32819	.	0.449704	0.16978	U	0.191806	T	0.32763	0.0840	L	0.43646	1.37	0.37432	D	0.914062	D;D	0.61080	0.982;0.989	P;P	0.57468	0.677;0.821	T	0.12708	-1.0537	10	0.27082	T	0.32	.	10.0526	0.42225	0.0:0.8979:0.0:0.1021	.	134;59	A6BM72;A6BM72-2	MEG11_HUMAN;.	N	134;59;134;59;134	ENSP00000386908:D134N;ENSP00000288745:D59N;ENSP00000414475:D134N;ENSP00000378987:D59N;ENSP00000353919:D134N	ENSP00000288745:D59N	D	-	1	0	MEGF11	64061875	1.000000	0.71417	0.995000	0.50966	0.110000	0.19582	7.509000	0.81698	0.775000	0.33450	-0.291000	0.09656	GAC	MEGF11	-	NULL	ENSG00000157890		0.677	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2		0	10	0	C	NM_032445		66274821	-1			no_errors	ENST00000409699	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	66274821	C	T	66274821	3	4	29	1	0	0	0	0	1	0	0	0	9499	884	31	1	2806	1	MEGF11	15	66274821	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	777109	66274821	36256571	125	7225											
AKAP13	11214	genome.wustl.edu	37	chr15	86287894	86287894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtatcagcagagggtgaaGagatcttctgctgaccctct	11	10	11	9	0	4	4	1	2	3	2	4	5	4	4	1	1	2	3	1	1	3	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr15:86287894G>C	ENST00000394518.2	+	37	8523	c.8428G>C	c.(8428-8430)Gag>Cag	p.E2810Q	AKAP13_ENST00000361243.2_Missense_Mutation_p.E2814Q|AKAP13_ENST00000560579.1_3'UTR|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.E1055Q	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2810	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGGGTGAAGAGATCTTCTG	0.507																																					Melanoma(94;603 1453 3280 32295 32951)												0													126	128	127					15																	86287894		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8428G>C	15.37:g.86287894G>C	ENSP00000378026:p.Glu2810Gln		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.E2814Q	ENST00000394518.2	37	c.8440	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224626	0.79576	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.48836	0.8;0.8;0.8	5.64	5.64	0.86602	.	.	.	.	.	T	0.63733	0.2536	L	0.47716	1.5	0.38712	D	0.953232	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.67421	-0.5675	9	0.87932	D	0	.	16.839	0.85963	0.0:0.0:1.0:0.0	.	2810;2814	Q12802;Q12802-2	AKP13_HUMAN;.	Q	2814;2810;2813;2789;1055	ENSP00000354718:E2814Q;ENSP00000378026:E2810Q;ENSP00000378018:E1055Q	ENSP00000354718:E2814Q	E	+	1	0	AKAP13	84088898	1.000000	0.71417	0.974000	0.42286	0.664000	0.39144	6.153000	0.71819	2.653000	0.90120	0.561000	0.74099	GAG	AKAP13	-	NULL	ENSG00000170776		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	34	0	G	NM_007200		86287894	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.999	C	C	86287894	G	C	86287894	3	2	29	1	0	0	0	0	1	0	0	0	449	943	33	5	8640	5	AKAP13	15	86287894	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	20013073	86287894	16243498	126	7226											
TIGD7	91151	genome.wustl.edu	37	chr16	3350311	3350311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctgcagcagcctgaagctCcacgcctcttaccggaacac	9	7	8	17	2	2	1	0	1	2	0	3	2	3	2	4	1	6	3	4	1	3	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr16:3350311C>T	ENST00000396862.1	-	2	2132	c.304G>A	c.(304-306)Gag>Aag	p.E102K	TIGD7_ENST00000268674.2_Missense_Mutation_p.E102K|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	102	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GCCTGAAGCTCCACGCCTCTT	0.493																																																	0													112	108	109					16																	3350311		2197	4300	6497	SO:0001583	missense	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.304G>A	16.37:g.3350311C>T	ENSP00000380071:p.Glu102Lys		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E102K	ENST00000396862.1	37	c.304	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081830	0.76528	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.29917	1.55;1.55	5.22	5.22	0.72569	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.42682	U	0.000677	T	0.32556	0.0833	L	0.53249	1.67	0.36992	D	0.894816	P	0.38711	0.643	B	0.38921	0.285	T	0.40664	-0.9551	10	0.54805	T	0.06	.	14.2675	0.66129	0.0:1.0:0.0:0.0	.	102	Q6NT04	TIGD7_HUMAN	K	102	ENSP00000380071:E102K;ENSP00000268674:E102K	ENSP00000268674:E102K	E	-	1	0	TIGD7	3290312	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.622000	0.54217	2.442000	0.82660	0.655000	0.94253	GAG	TIGD7	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000140993		0.493	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	-	0	61	0	C	NM_033208		3350311	-1	tier1	-	no_errors	ENST00000268674	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	T	T	3350311	C	T	3350311	3	4	29	1	0	0	0	0	1	0	0	0	15948	864	30	3	1349	3	TIGD7	16	3350311	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09		3350311	87004442	127	7227											
SLC5A2	6524	genome.wustl.edu	37	chr16	31500246	31500246	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcggtggcctggcttccCgtggtgcaggcggcacaggg	3	8	19	11	3	0	0	0	0	0	0	2	0	1	0	2	7	1	3	2	7	0	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr16:31500246C>A	ENST00000330498.3	+	11	1345	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	442					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.P442P(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CCTGGCTTCCCGTGGTGCAGG	0.682																																																	1	Substitution - coding silent(1)	lung(1)											52	48	50					16																	31500246		2197	4299	6496	SO:0001819	synonymous_variant	0				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1326C>A	16.37:g.31500246C>A			A2RRD2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P442	ENST00000330498.3	37	c.1326	CCDS10714.1	16																																																																																			SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000140675		0.682	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	-	0	51	0	C			31500246	1	tier1	-	no_errors	ENST00000330498	ensembl	human	known	74_37	silent	9.30	38	4	SNP	0.541	A	A	31500246	C	A	31500246	2	1	29	1	0	0	0	0	0	0	0	1	14710	639	23	2		2	SLC5A2	16	31500246	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	28149935	31500246	58854507	128	7228											
CNOT1	23019	genome.wustl.edu	37	chr16	58572788	58572788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtcagcatcagcacCacttgtggcatctagtaagc	12	8	10	11	0	3	1	2	0	1	1	3	1	3	1	1	2	3	4	1	2	3	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr16:58572788C>A	ENST00000317147.5	-	36	5355	c.5023G>T	c.(5023-5025)Ggt>Tgt	p.G1675C	CNOT1_ENST00000569240.1_Missense_Mutation_p.G1670C|CNOT1_ENST00000245138.4_Missense_Mutation_p.G526C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1675					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCATCAGCACCACTTGTGGCA	0.507																																																	0													106	90	95					16																	58572788		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5023G>T	16.37:g.58572788C>A	ENSP00000320949:p.Gly1675Cys		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.G1675C	ENST00000317147.5	37	c.5023	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930748	0.92389	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T;T	0.17054	2.3;2.3	5.26	5.26	0.73747	.	0.048939	0.85682	D	0.000000	T	0.28300	0.0699	L	0.36672	1.1	0.80722	D	1	D;P;D	0.57899	0.967;0.9;0.981	B;P;P	0.55303	0.428;0.598;0.773	T	0.01065	-1.1463	10	0.56958	D	0.05	-14.4665	18.8774	0.92343	0.0:1.0:0.0:0.0	.	526;1675;1670	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	1675;526;1670	ENSP00000320949:G1675C;ENSP00000245138:G526C	ENSP00000245138:G526C	G	-	1	0	CNOT1	57130289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.455000	0.83008	0.655000	0.94253	GGT	CNOT1	-	NULL	ENSG00000125107		0.507	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	57	0	C	NM_016284		58572788	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	58572788	C	A	58572788	3	1	29	1	0	0	0	0	1	0	0	0	3624	594	21	3	2163	3	CNOT1	16	58572788	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	27072542	58572788	31781965	129	7229											
NFAT5	10725	genome.wustl.edu	37	chr16	69729066	69729066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttttaacctctggacCagctacattgcctgatcagt	9	13	7	12	0	3	1	2	1	1	0	3	2	3	2	3	1	5	2	3	1	2	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr16:69729066C>A	ENST00000354436.2	+	13	4706	c.4388C>A	c.(4387-4389)cCa>cAa	p.P1463Q	NFAT5_ENST00000567239.1_Missense_Mutation_p.P1480Q|NFAT5_ENST00000349945.1_Missense_Mutation_p.P1387Q|NFAT5_ENST00000393742.2_Missense_Mutation_p.P1387Q|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1481Q|NFAT5_ENST00000566899.1_Missense_Mutation_p.P1387Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1463					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACCTCTGGACCAGCTACATTG	0.448																																																	0													89	81	84					16																	69729066		2198	4300	6498	SO:0001583	missense	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"Nuclear factor of activated T-cells"	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4388C>A	16.37:g.69729066C>A	ENSP00000346420:p.Pro1463Gln		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.P1481Q	ENST00000354436.2	37	c.4442	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718199	0.89205	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.84	5.84	0.93424	.	0.168197	0.52532	D	0.000066	T	0.55226	0.1907	L	0.51422	1.61	0.46044	D	0.998838	D;P;P	0.56035	0.974;0.937;0.937	P;B;B	0.49140	0.601;0.367;0.367	T	0.57183	-0.7855	10	0.72032	D	0.01	-3.9176	20.1346	0.98019	0.0:1.0:0.0:0.0	.	1480;1463;1481	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	Q	1481;1480;1387;1463;1387	ENSP00000396538:P1481Q;ENSP00000338806:P1387Q;ENSP00000346420:P1463Q;ENSP00000377343:P1387Q	ENSP00000338806:P1387Q	P	+	2	0	NFAT5	68286567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.157000	0.58144	2.763000	0.94921	0.557000	0.71058	CCA	NFAT5	-	NULL	ENSG00000102908		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2		0	54	0	C	NM_138714		69729066	1			no_errors	ENST00000432919	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	69729066	C	A	69729066	3	1	29	1	0	0	0	0	1	0	0	0	10399	594	21	3	4496	3	NFAT5	16	69729066	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	11156278	69729066	20625687	130	7230											
AARS	16	genome.wustl.edu	37	chr16	70291981	70291981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggagccagcaggcccaGaggggtcatccagcaactcg	10	4	14	13	1	2	1	2	0	0	1	4	2	3	2	3	4	4	2	3	4	1	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr16:70291981G>T	ENST00000261772.8	-	15	2275	c.2132C>A	c.(2131-2133)tCt>tAt	p.S711Y	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		AGCAGGCCCAGAGGGGTCATC	0.587																																																	0													51	49	50					16																	70291981		2198	4300	6498	SO:0001583	missense	0			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	20	protein-coding gene	gene with protein product	"alanine tRNA ligase 1, cytoplasmic"	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.2132C>A	16.37:g.70291981G>T	ENSP00000261772:p.Ser711Tyr			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.S711Y	ENST00000261772.8	37	c.2132	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	g	16.22	3.060644	0.55432	.	.	ENSG00000090861	ENST00000261772	T	0.65364	-0.15	5.91	3.94	0.45596	Threonyl/alanyl tRNA synthetase, SAD (2);Alanyl-tRNA synthetase, class IIc, core domain (1);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.450942	0.28042	N	0.016825	T	0.65852	0.2731	M	0.72353	2.195	0.09310	N	0.999999	B;P	0.34615	0.049;0.459	B;B	0.42738	0.192;0.396	T	0.60989	-0.7153	10	0.59425	D	0.04	-5.5298	10.1348	0.42699	0.0751:0.1371:0.7878:0.0	.	719;711	E7ETK8;P49588	.;SYAC_HUMAN	Y	711	ENSP00000261772:S711Y	ENSP00000261772:S711Y	S	-	2	0	AARS	68849482	1.000000	0.71417	0.519000	0.27824	0.733000	0.41908	5.866000	0.69590	0.823000	0.34589	0.655000	0.94253	TCT	AARS	-	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000090861		0.587	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2		0	53	0	G	NM_001605		70291981	-1			no_errors	ENST00000261772	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.073	T	T	70291981	G	T	70291981	3	4	29	1	0	0	0	0	1	0	0	0	19	942	33	3	802	3	AARS	16	70291981	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	562915	70291981	20062772	131	7231											
ZFHX3	463	genome.wustl.edu	37	chr16	72822178	72822178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgccatacataggctGcaggtacccgctctgcaggg	8	9	11	13	1	1	0	0	0	1	0	2	0	2	0	3	3	5	5	3	3	3	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr16:72822178G>T	ENST00000268489.5	-	10	10669	c.9997C>A	c.(9997-9999)Cag>Aag	p.Q3333K	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q2419K|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3333					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TACATAGGCTGCAGGTACCCG	0.582																																																	0													33	36	35					16																	72822178		2198	4300	6498	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9997C>A	16.37:g.72822178G>T	ENSP00000268489:p.Gln3333Lys		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Q3333K	ENST00000268489.5	37	c.9997	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608097	0.46527	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76968	-1.06;-1.02	4.94	4.94	0.65067	.	0.000000	0.47852	D	0.000219	T	0.73273	0.3566	L	0.50333	1.59	0.80722	D	1	P	0.42409	0.779	B	0.38056	0.264	T	0.75608	-0.3259	10	0.41790	T	0.15	.	17.7523	0.88438	0.0:0.0:1.0:0.0	.	3333	Q15911	ZFHX3_HUMAN	K	3333;2419	ENSP00000268489:Q3333K;ENSP00000438926:Q2419K	ENSP00000268489:Q3333K	Q	-	1	0	ZFHX3	71379679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.294000	0.77228	0.557000	0.71058	CAG	ZFHX3	-	NULL	ENSG00000140836		0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	80	0	G	NM_006885		72822178	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	72822178	G	T	72822178	3	4	29	1	0	0	0	0	1	0	0	0	17682	1328	46	3	1118	3	ZFHX3	16	72822178	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	2530197	72822178	17532575	132	7232											
MINK1	50488	genome.wustl.edu	37	chr17	4790980	4790982	+	In_Frame_Del	DEL	GCA	GCA	-																															ttaaaacagcagcagcagctGcagcagcagcagcagcgaga																										TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:4790980_4790982delGCA	ENST00000355280.6	+	12	1321_1323	c.1125_1127delGCA	c.(1123-1128)ctgcag>ctg	p.Q380del	MINK1_ENST00000453408.3_In_Frame_Del_p.Q380del|MINK1_ENST00000347992.7_In_Frame_Del_p.Q380del	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						agcagcagctgcagcagcagcag	0.606																																																	0									,,,	70,3608		15,40,1784					,,,	-3.4	1			8	185,7549		42,101,3724	no	coding,coding,coding,coding	MINK1	NM_170663.4,NM_153827.4,NM_015716.4,NM_001024937.3	,,,	57,141,5508	A1A1,A1R,RR		2.392,1.9032,2.2345	,,,	,,,		255,11157				SO:0001651	inframe_deletion	0			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"misshapen/NIK-related kinase"	609426	"misshapen-like kinase 1 (zebrafish)"			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1125_1127delGCA	17.37:g.4790989_4790991delGCA	ENSP00000347427:p.Gln380del			In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.Q379in_frame_del	ENST00000355280.6	37	c.1125_1127	CCDS45588.1	17																																																																																			MINK1	-	NULL	ENSG00000141503		0.606	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1		0	41	0	GCA	NM_015716		4790982	1	tier1		no_errors	ENST00000355280	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	0.999:1.000:1.000	-	-	4790982	GCA	-	4790980	7	5	29	1	0	1	0	1	0	0	0	0	9625	1306	46	0	910	0	MINK1	17	4790980	In_Frame_Del	DEL	GCA	TCGA-IG-A6QS-01A-12D-A33E-09		4790980	76404230	133	7233											
KIF1C	10749	genome.wustl.edu	37	chr17	4907862	4907862	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccatgcactccattcacagGggggaactcacgcacagcca	11	6	9	15	1	2	0	2	0	0	0	4	1	4	1	3	3	3	2	3	3	1	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:4907862G>T	ENST00000320785.5	+	12	1298	c.941G>T	c.(940-942)gGg>gTg	p.G314V		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.G314E(1)|p.G314A(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCATTCACAGGGGGGAACTCA	0.582																																					Melanoma(96;1023 1447 10250 19259 33730)												2	Substitution - Missense(2)	NS(1)|breast(1)											117	113	114					17																	4907862		2203	4300	6503	SO:0001630	splice_region_variant	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.941-1G>T	17.37:g.4907862G>T			D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G314V	ENST00000320785.5	37	c.941	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495725	0.64186	.	.	ENSG00000129250	ENST00000320785	D	0.90620	-2.7	4.65	4.65	0.58169	Kinesin, motor domain (4);	.	.	.	.	D	0.96781	0.8949	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97732	1.0203	8	.	.	.	.	15.4327	0.75116	0.0:0.0:1.0:0.0	.	314	O43896	KIF1C_HUMAN	V	314	ENSP00000320821:G314V	.	G	+	2	0	KIF1C	4848586	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	9.443000	0.97568	2.596000	0.87737	0.467000	0.42956	GGG	KIF1C	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000129250		0.582	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1		0	26	0	G		Missense_Mutation	4907862	1			no_errors	ENST00000320785	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	4907862	G	T	4907862	5	4	29	1	0	0	0	0	0	0	1	0	8312	1246	43	3	979	3	KIF1C	17	4907862	Splice_Site	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	116882	4907862	76287348	134	7234											
TP53	7157	genome.wustl.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	9	10	10	12	2	1	0	1	0	0	0	2	1	2	1	3	2	4	4	3	2	3	3	rs121912655|rs397516437		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:7577556C>T	ENST00000269305.4	-	7	914	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_ENST00000413465.2_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y|TP53_ENST00000420246.2_Missense_Mutation_p.C242Y|TP53_ENST00000455263.2_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGCCCATGCAGGAACTGTT	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	175	Substitution - Missense(150)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(5)|Deletion - Frameshift(4)|Complex - deletion inframe(1)	lung(35)|upper_aerodigestive_tract(22)|liver(16)|oesophagus(15)|large_intestine(13)|breast(12)|central_nervous_system(11)|ovary(11)|urinary_tract(9)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|bone(5)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)|pancreas(1)|prostate(1)	GRCh37	CM910618	TP53	M	rs121912655						140	107	119					17																	7577556		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.725G>A	17.37:g.7577556C>T	ENSP00000269305:p.Cys242Tyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C242Y	ENST00000269305.4	37	c.725	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430778	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99915	-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99;-7.99	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99930	0.9968	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95727	0.8771	10	0.87932	D	0	-27.558	15.3618	0.74483	0.0:1.0:0.0:0.0	.	242;242;149;242;242;242	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	242;242;242;242;242;242;231;149;110;149	ENSP00000410739:C242Y;ENSP00000352610:C242Y;ENSP00000269305:C242Y;ENSP00000398846:C242Y;ENSP00000391127:C242Y;ENSP00000391478:C242Y;ENSP00000425104:C110Y;ENSP00000423862:C149Y	ENSP00000269305:C242Y	C	-	2	0	TP53	7518281	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	44	0	C	NM_000546		7577556	-1	tier1	rs121912655	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	80.39	10	41	SNP	1.000	T	T	7577556	C	T	7577556	3	4	29	1	0	0	0	0	1	0	0	0	16429	710	25	3	565	3	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	2669694	7577556	73617654	135	7235											
RAI1	10743	genome.wustl.edu	37	chr17	17697105	17697105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctatgaccagcagcagcaGcagcagcagcagcagcagca	14	2	12	13	0	0	1	0	1	0	0	0	1	0	1	1	0	11	11	1	0	1	1	rs398124422|rs587780431		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:17697105G>A	ENST00000353383.1	+	3	1312	c.843G>A	c.(841-843)caG>caA	p.Q281Q	RAI1_ENST00000261641.6_Silent_p.Q281Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	281	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		agcagcagcagcagcagcagc	0.632																																																	0													20	25	24					17																	17697105		2020	4001	6021	SO:0001819	synonymous_variant	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.843G>A	17.37:g.17697105G>A			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	smart_Znf_PHD	p.Q281	ENST00000353383.1	37	c.843	CCDS11188.1	17																																																																																			RAI1	-	NULL	ENSG00000108557		0.632	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	-	0	77	0	G	NM_030665		17697105	1	tier1	-	no_errors	ENST00000353383	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	A	A	17697105	G	A	17697105	2	1	29	1	0	0	0	0	0	0	0	1	13052	962	34	3		3	RAI1	17	17697105	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	10119549	17697105	63498105	136	7236											
MYO15A	51168	genome.wustl.edu	37	chr17	18030136	18030136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcaaatctcgccttcGccaaaatgctcgatgccaaa	11	10	7	13	3	1	0	0	0	1	0	4	1	1	0	3	0	3	3	3	0	4	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:18030136G>A	ENST00000205890.5	+	6	4236	c.3898G>A	c.(3898-3900)Gcc>Acc	p.A1300T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1300	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCTCGCCTTCGCCAAAATGCT	0.557																																																	0													139	141	140					17																	18030136		2008	4167	6175	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.3898G>A	17.37:g.18030136G>A	ENSP00000205890:p.Ala1300Thr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A1300T	ENST00000205890.5	37	c.3898	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	7.934	0.741385	0.15642	.	.	ENSG00000091536	ENST00000205890	D	0.86769	-2.17	5.01	2.78	0.32641	Myosin head, motor domain (2);	.	.	.	.	T	0.55545	0.1927	N	0.01649	-0.78	0.80722	D	1	B	0.30104	0.268	B	0.13407	0.009	T	0.60193	-0.7311	9	0.02654	T	1	.	2.3463	0.04272	0.3912:0.0:0.3598:0.249	.	1300	Q9UKN7	MYO15_HUMAN	T	1300	ENSP00000205890:A1300T	ENSP00000205890:A1300T	A	+	1	0	MYO15A	17970861	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.867000	0.39499	1.107000	0.41642	-0.140000	0.14226	GCC	MYO15A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000091536		0.557	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	46	0	G	NM_016239		18030136	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A	A	18030136	G	A	18030136	3	1	29	1	0	0	0	0	1	0	0	0	10101	1087	38	1	3916	1	MYO15A	17	18030136	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	333031	18030136	63165074	137	7237											
ACACA	31	genome.wustl.edu	37	chr17	35445997	35445997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgccagatccttattattgtCccaaacataagcctgcaaac	13	10	5	13	1	0	1	0	0	0	1	2	1	2	1	4	0	4	1	4	0	5	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:35445997C>T	ENST00000394406.2	-	55	6983	c.6793G>A	c.(6793-6795)Gac>Aac	p.D2265N	ACACA_ENST00000353139.5_Missense_Mutation_p.D2302N|ACACA_ENST00000360679.3_Missense_Mutation_p.D2207N|ACACA_ENST00000361253.5_Missense_Mutation_p.D391N|ACACA_ENST00000335166.5_Missense_Mutation_p.D2187N	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2265					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTATTATTGTCCCAAACATAA	0.493																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													148	140	143					17																	35445997		2203	4300	6503	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6793G>A	17.37:g.35445997C>T	ENSP00000377928:p.Asp2265Asn		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.D2302N	ENST00000394406.2	37	c.6904	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622268	0.87460	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	5.87	5.87	0.94306	.	0.048678	0.85682	D	0.000000	T	0.75228	0.3821	M	0.80746	2.51	0.80722	D	1	P;D;B;B;B	0.58620	0.944;0.983;0.006;0.001;0.012	P;P;B;B;B	0.58266	0.798;0.836;0.047;0.011;0.024	T	0.72750	-0.4199	10	0.34782	T	0.22	-21.6169	20.2033	0.98269	0.0:1.0:0.0:0.0	.	303;964;2302;2265;2207	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	N	2302;2207;2265;2289;2187;964;391	ENSP00000344789:D2302N;ENSP00000353898:D2207N;ENSP00000377928:D2265N;ENSP00000335323:D2187N;ENSP00000354565:D391N	ENSP00000335323:D2187N	D	-	1	0	ACACA	32520110	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.800000	0.85949	2.779000	0.95612	0.655000	0.94253	GAC	ACACA	-	NULL	ENSG00000132142		0.493	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	33	0	C	NM_198836		35445997	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	33.33	22	11	SNP	1.000	T	T	35445997	C	T	35445997	3	4	29	1	0	0	0	0	1	0	0	0	106	855	30	3	255	3	ACACA	17	35445997	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	17415861	35445997	45749213	138	7238											
BZRAP1	9256	genome.wustl.edu	37	chr17	56389041	56389041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatcaagatcccaggggagGgcccaggctcgatctgcaca	10	6	13	12	1	2	2	1	1	1	1	4	4	3	3	2	4	1	2	2	4	1	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:56389041G>T	ENST00000343736.4	-	18	3135	c.2972C>A	c.(2971-2973)cCc>cAc	p.P991H	BZRAP1_ENST00000268893.6_Missense_Mutation_p.P931H|BZRAP1_ENST00000355701.3_Missense_Mutation_p.P991H			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	991	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCAGGGGAGGGCCCAGGCTC	0.612																																																	0													53	47	49					17																	56389041		2203	4300	6503	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2972C>A	17.37:g.56389041G>T	ENSP00000345824:p.Pro991His		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.P991H	ENST00000343736.4	37	c.2972	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178174	0.78564	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.55588	0.51;0.51;0.51	5.24	5.24	0.73138	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.69646	0.3134	L	0.53249	1.67	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.877	D;D;P	0.97110	0.999;1.0;0.622	T	0.71869	-0.4462	10	0.87932	D	0	.	18.1821	0.89781	0.0:0.0:1.0:0.0	.	991;931;991	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	H	991;991;931	ENSP00000347929:P991H;ENSP00000345824:P991H;ENSP00000268893:P931H	ENSP00000268893:P931H	P	-	2	0	BZRAP1	53744040	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	6.650000	0.74368	2.625000	0.88918	0.455000	0.32223	CCC	BZRAP1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000005379		0.612	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1		0	44	0	G	NM_004758		56389041	-1			no_errors	ENST00000355701	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	56389041	G	T	56389041	3	4	29	1	0	0	0	0	1	0	0	0	1581	1232	43	3	2657	3	BZRAP1	17	56389041	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	20943044	56389041	24806169	139	7239											
ARSG	22901	genome.wustl.edu	37	chr17	66416461	66416461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcggagtaccaggctgtgCtgcccgaggtcagaaaggtt	8	8	16	9	2	1	1	1	0	0	1	1	3	1	2	2	4	4	4	2	4	2	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr17:66416461C>T	ENST00000448504.2	+	12	2231	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	ARSG_ENST00000452479.2_Silent_p.L315L|RP11-120M18.2_ENST00000592030.1_RNA|ARSG_ENST00000582154.1_3'UTR|WIPI1_ENST00000589459.1_5'Flank	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	479					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCAGGCTGTGCTGCCCGAGGT	0.537																																																	0													152	142	145					17																	66416461		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1435C>T	17.37:g.66416461C>T			Q6UXF2|Q9Y2K4	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.L479	ENST00000448504.2	37	c.1435	CCDS11676.1	17																																																																																			ARSG	-	superfamily_Alkaline_phosphatase_core	ENSG00000141337		0.537	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	HGNC	protein_coding	OTTHUMT00000448369.1		0	61	0	C	NM_014960		66416461	1			no_errors	ENST00000448504	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.661	T	T	66416461	C	T	66416461	2	4	29	1	0	0	0	0	0	0	0	1	993	796	28	3		3	ARSG	17	66416461	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	10027420	66416461	14778749	140	7240											
CEP192	55125	genome.wustl.edu	37	chr18	13049800	13049800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctgagcatggtggacgtgGctcagaggatgagcaggaga	10	7	17	7	1	1	4	1	2	0	2	2	7	2	6	1	5	2	3	1	5	0	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr18:13049800G>T	ENST00000325971.8	+	15	2732	c.1139G>T	c.(1138-1140)gGc>gTc	p.G380V	CEP192_ENST00000430049.2_Missense_Mutation_p.G501V|CEP192_ENST00000506447.1_Missense_Mutation_p.G976V			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	380					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTGGACGTGGCTCAGAGGAT	0.418																																																	0													102	100	101					18																	13049800		2203	4300	6503	SO:0001583	missense	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1139G>T	18.37:g.13049800G>T	ENSP00000317156:p.Gly380Val		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.G976V	ENST00000325971.8	37	c.2927		18	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319796	0.23994	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.76839	-1.05;-1.05;-1.05	5.76	2.92	0.33932	.	0.614375	0.15394	N	0.264650	T	0.72716	0.3495	L	0.56769	1.78	0.09310	N	0.999996	P;P;P	0.49358	0.617;0.617;0.923	B;B;P	0.46110	0.308;0.308;0.504	T	0.61372	-0.7076	10	0.33141	T	0.24	-0.6454	5.2661	0.15599	0.2193:0.0:0.6226:0.1581	.	501;976;380	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	V	976;380;380;501	ENSP00000427550:G976V;ENSP00000317156:G380V;ENSP00000389190:G501V	ENSP00000317156:G380V	G	+	2	0	CEP192	13039800	0.009000	0.17119	0.006000	0.13384	0.280000	0.26924	1.489000	0.35562	0.849000	0.35215	0.650000	0.86243	GGC	CEP192	-	NULL	ENSG00000101639		0.418	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding			0	52	0	G	NM_032142		13049800	1			no_errors	ENST00000506447	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.000	T	T	13049800	G	T	13049800	3	4	29	1	0	0	0	0	1	0	0	0	3258	1203	42	3	2989	3	CEP192	18	13049800	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		13049800	65027448	141	7241											
ABCA7	10347	genome.wustl.edu	37	chr19	1046962	1046962	+	Frame_Shift_Del	DEL	G	G	-																															cgcggtgctctggctaggctGgttcctcagctgcctcgggc																										TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:1046962delG	ENST00000263094.6	+	14	2015	c.1784delG	c.(1783-1785)tggfs	p.W595fs	ABCA7_ENST00000433129.1_Frame_Shift_Del_p.W595fs|ABCA7_ENST00000533574.1_Intron|ABCA7_ENST00000435683.2_Frame_Shift_Del_p.W457fs	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	595					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTAGGCTGGTTCCTCAGC	0.697																																																	0													17	17	17					19																	1046962		2182	4280	6462	SO:0001589	frameshift_variant	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1784delG	19.37:g.1046962delG	ENSP00000263094:p.Trp595fs		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.W595fs	ENST00000263094.6	37	c.1784	CCDS12055.1	19																																																																																			ABCA7	-	NULL	ENSG00000064687		0.697	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1		0	29	0	G	NM_019112		1046962	1	tier1		no_errors	ENST00000263094	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	1046962	G	-	1046962	7	5	29	1	0	1	0	1	0	0	0	0	37	1357	47	0	1834	0	ABCA7	19	1046962	Frame_Shift_Del	DEL	G	TCGA-IG-A6QS-01A-12D-A33E-09		1046962	58082021	142	7242											
MLLT1	4298	genome.wustl.edu	37	chr19	6222274	6222274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccggcttcttgtccgagaagGaggaggaggaggaggtgcgg	8	6	20	7	3	1	1	0	0	1	1	2	7	2	6	2	8	1	1	2	8	1	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:6222274G>A	ENST00000252674.7	-	6	1131	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	323	Poly-Ser.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTCCGAGAAGGAGGAGGAGGA	0.652			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	0													35	36	35					19																	6222274		2202	4300	6502	SO:0001583	missense	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.968C>T	19.37:g.6222274G>A	ENSP00000252674:p.Ser323Phe		Q14768	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S323F	ENST00000252674.7	37	c.968	CCDS12160.1	19	.	.	.	.	.	.	.	.	.	.	G	3.673	-0.067162	0.07273	.	.	ENSG00000130382	ENST00000252674	.	.	.	.	.	.	.	0.242221	0.35151	U	0.003418	T	0.24198	0.0586	M	0.62723	1.935	0.26994	N	0.965076	P	0.40144	0.704	B	0.23419	0.046	T	0.20605	-1.0270	7	0.72032	D	0.01	-25.4423	.	.	.	.	323	Q03111	ENL_HUMAN	F	323	.	ENSP00000252674:S323F	S	-	2	0	MLLT1	6173274	0.997000	0.39634	0.882000	0.34594	0.704000	0.40688	0.089000	0.15002	0.088000	0.17205	0.089000	0.15464	TCC	MLLT1	-	NULL	ENSG00000130382		0.652	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	HGNC	protein_coding	OTTHUMT00000452909.1	-	0	56	0	G	NM_005934		6222274	-1	tier1	-	no_errors	ENST00000252674	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.456	A	A	6222274	G	A	6222274	3	1	29	1	0	0	0	0	1	0	0	0	9663	1174	41	3	739	3	MLLT1	19	6222274	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	5175312	6222274	52906709	143	7243											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7533811	7533811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagagtacgcagagcGccccgaggtggctcgccggg	6	3	19	13	5	0	2	0	0	0	2	1	3	0	2	4	5	2	3	4	5	1	1	rs201204829	byFrequency	TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:7533811G>A	ENST00000359920.6	+	17	3270	c.3017G>A	c.(3016-3018)cGc>cAc	p.R1006H	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R848H|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.A964T	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1006					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TACGCAGAGCGCCCCGAGGTG	0.701													G|||	2	0.000399361	0	0.0014	5008	,	,		15037	0		0	False		,,,				2504	0.001																0								G	HIS/ARG,HIS/ARG	0,4350		0,0,2175	12	12	12		3017,2543	4.1	0.9	19		12	4,8530		0,4,4263	yes	missense,missense	ARHGEF18	NM_001130955.1,NM_015318.3	29,29	0,4,6438	AA,AG,GG		0.0469,0.0,0.031	probably-damaging,probably-damaging	1006/1174,848/1016	7533811	4,12880	2175	4267	6442	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3017G>A	19.37:g.7533811G>A	ENSP00000352995:p.Arg1006His		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R1006H	ENST00000359920.6	37	c.3017	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349657	0.61183	0.0	4.69E-4	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.35236	1.36;1.32	5.11	4.05	0.47172	.	0.000000	0.50627	D	0.000115	T	0.36193	0.0958	M	0.66939	2.045	0.80722	D	1	D;D	0.63046	0.99;0.992	P;B	0.44673	0.457;0.363	T	0.18681	-1.0329	10	0.18276	T	0.48	-19.0292	10.5039	0.44821	0.1004:0.0:0.8996:0.0	.	848;1006	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	H	848;1006	ENSP00000319200:R848H;ENSP00000352995:R1006H	ENSP00000319200:R848H	R	+	2	0	ARHGEF18	7439811	1.000000	0.71417	0.904000	0.35570	0.423000	0.31445	5.801000	0.69115	1.096000	0.41439	0.563000	0.77884	CGC	ARHGEF18	-	NULL	ENSG00000104880		0.701	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0	17	0	G	NM_015318		7533811	1	tier1	rs201204829	no_errors	ENST00000359920	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.998	A	A	7533811	G	A	7533811	3	1	29	1	0	0	0	0	1	0	0	0	901	1087	38	1	3083	1	ARHGEF18	19	7533811	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1311537	7533811	51595172	144	7244											
ZNF317	57693	genome.wustl.edu	37	chr19	9271728	9271728	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacaggaagatacacacGcaagagagacgctacgaatg	17	3	11	10	3	0	3	0	0	0	3	0	6	0	4	0	1	2	3	0	1	5	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:9271728G>T	ENST00000247956.6	+	7	1712	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	ZNF317_ENST00000360385.3_Silent_p.T437T	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGATACACACGCAAGAGAGAC	0.532																																																	0													54	50	51					19																	9271728		2203	4300	6503	SO:0001819	synonymous_variant	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1407G>T	19.37:g.9271728G>T			Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T469	ENST00000247956.6	37	c.1407	CCDS12210.1	19																																																																																			ZNF317	-	pfscan_Znf_C2H2	ENSG00000130803		0.532	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1		0	25	0	G	NM_020933		9271728	1			no_errors	ENST00000247956	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.091	T	T	9271728	G	T	9271728	2	4	29	1	0	0	0	0	0	0	0	1	17883	1074	38	2		2	ZNF317	19	9271728	Silent	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1737917	9271728	49857255	145	7245											
SMARCA4	6597	genome.wustl.edu	37	chr19	11097213	11097213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacccggccctggccctgGccctggccccggcccgggtc	2	4	15	20	3	0	0	0	0	0	0	1	1	0	1	7	7	0	0	7	7	0	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:11097213G>A	ENST00000429416.3	+	5	985	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G235D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G235D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G235D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G235D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G235D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G235D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G235D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G235D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	235	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				cctggccctggccctggcccc	0.692			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											3	3	3					19																	11097213		1843	3626	5469	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.704G>A	19.37:g.11097213G>A	ENSP00000395654:p.Gly235Asp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.G235D	ENST00000429416.3	37	c.704	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332057	0.41297	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.86865	-2.17;-2.18;-2.17;-2.18;-2.17;-2.17;-2.18	4.83	4.83	0.62350	.	0.077437	0.49305	D	0.000147	D	0.88573	0.6473	L	0.36672	1.1	0.46586	D	0.99911	D;D;D;D;D;D;D	0.64830	0.994;0.994;0.994;0.994;0.994;0.994;0.994	D;D;D;P;D;D;D	0.65010	0.931;0.931;0.931;0.705;0.931;0.931;0.931	D	0.85029	0.0916	10	0.13470	T	0.59	-23.4097	16.7199	0.85407	0.0:0.0:1.0:0.0	.	235;235;235;235;235;235;235	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	235	ENSP00000395654:G235D;ENSP00000350720:G235D;ENSP00000343896:G235D;ENSP00000445036:G235D;ENSP00000392837:G235D;ENSP00000397783:G235D;ENSP00000414727:G235D	ENSP00000343896:G235D	G	+	2	0	SMARCA4	10958213	1.000000	0.71417	0.998000	0.56505	0.478000	0.33099	5.992000	0.70609	2.240000	0.73641	0.462000	0.41574	GGC	SMARCA4	-	NULL	ENSG00000127616		0.692	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	13	0	G	NM_003072		11097213	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	26.32	13	5	SNP	1.000	A	A	11097213	G	A	11097213	3	1	29	1	0	0	0	0	1	0	0	0	14815	1203	42	3	714	3	SMARCA4	19	11097213	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1825485	11097213	48031770	146	7246											
ZNF878	729747	genome.wustl.edu	37	chr19	12154831	12154831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatagcgaatagaattagaaGaaatgaaggcttttccacat	17	10	9	5	1	0	4	0	1	0	3	1	6	1	4	1	1	1	1	1	1	8	5			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:12154831G>A	ENST00000547628.1	-	4	1522	c.1385C>T	c.(1384-1386)tCt>tTt	p.S462F	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S509F	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AGAATTAGAAGAAATGAAGGC	0.388																																																	0													53	60	57					19																	12154831		2189	4293	6482	SO:0001583	missense	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1385C>T	19.37:g.12154831G>A	ENSP00000447931:p.Ser462Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S509F	ENST00000547628.1	37	c.1526	CCDS45984.2	19	.	.	.	.	.	.	.	.	.	.	G	6.532	0.466338	0.12402	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.02067	4.47	1.3	0.00835	0.14074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	L	0.53617	1.68	0.09310	N	1	P	0.41947	0.766	P	0.45167	0.472	T	0.33828	-0.9853	9	0.10111	T	0.7	.	2.7175	0.05191	0.1843:0.0:0.3929:0.4228	.	462	C9JN71	ZN878_HUMAN	F	462;509	ENSP00000447931:S462F	ENSP00000447931:S462F	S	-	2	0	AC022415.4;ZNF878	12015831	0.000000	0.05858	0.002000	0.10522	0.901000	0.52897	-1.604000	0.02076	-0.149000	0.11215	0.313000	0.20887	TCT	ZNF878	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000257446		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1	-	0	57	0	G	NM_001080404		12154831	-1	tier1	-	no_errors	ENST00000602107	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.000	A	A	12154831	G	A	12154831	3	1	29	1	0	0	0	0	1	0	0	0	18244	942	33	3	214	3	ZNF878	19	12154831	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1057618	12154831	46974152	147	7247											
CC2D1A	54862	genome.wustl.edu	37	chr19	14038817	14038817	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagaggtggctggtcattGaccctgtgccggcagctgtg	6	9	16	10	1	1	2	1	1	0	1	1	3	1	2	2	4	2	3	2	4	0	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:14038817G>C	ENST00000318003.7	+	23	2669	c.2428G>C	c.(2428-2430)Gac>Cac	p.D810H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.D810H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	810					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCTGGTCATTGACCCTGTGCC	0.657																																																	0													56	66	63					19																	14038817		2065	4205	6270	SO:0001583	missense	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"mental retardation, nonsyndromic, autosomal recessive, 3"	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2428G>C	19.37:g.14038817G>C	ENSP00000313601:p.Asp810His		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.D810H	ENST00000318003.7	37	c.2428	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	g	24.7	4.559886	0.86335	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.42131	0.98	5.22	5.22	0.72569	.	0.056378	0.64402	D	0.000002	T	0.66137	0.2759	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.994	T	0.70185	-0.4941	10	0.87932	D	0	-33.4617	17.5348	0.87827	0.0:0.0:1.0:0.0	.	432;810;810	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	H	810;433	ENSP00000313601:D810H	ENSP00000254346:D433H	D	+	1	0	CC2D1A	13899817	1.000000	0.71417	0.962000	0.40283	0.849000	0.48306	8.508000	0.90525	2.447000	0.82792	0.491000	0.48974	GAC	CC2D1A	-	NULL	ENSG00000132024		0.657	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	-	0	171	0	G	NM_017721		14038817	1	tier1	-	no_errors	ENST00000318003	ensembl	human	known	74_37	missense	30.49	114	50	SNP	1.000	C	C	14038817	G	C	14038817	3	2	29	1	0	0	0	0	1	0	0	0	2733	1290	45	5	2518	5	CC2D1A	19	14038817	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1883986	14038817	45090166	148	7248											
CYP4F22	126410	genome.wustl.edu	37	chr19	15658995	15658995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacccacctgtcactcttGtctctcgccaatgcacggag	8	10	8	15	2	3	0	1	0	2	0	5	1	3	1	3	1	2	2	3	1	2	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:15658995G>T	ENST00000269703.3	+	11	1412	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F	CYP4F22_ENST00000601005.2_Missense_Mutation_p.V405F	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	405						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGTCACTCTTGTCTCTCGCCA	0.547																																																	0													188	167	174					19																	15658995		2203	4300	6503	SO:0001583	missense	0				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1213G>T	19.37:g.15658995G>T	ENSP00000269703:p.Val405Phe		Q8N8H4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.V405F	ENST00000269703.3	37	c.1213	CCDS12331.1	19	.	.	.	.	.	.	.	.	.	.	G	9.710	1.156828	0.21454	.	.	ENSG00000171954	ENST00000269703	T	0.70399	-0.48	5.19	-2.96	0.05547	.	0.293059	0.32802	N	0.005639	T	0.47581	0.1453	N	0.11724	0.165	0.09310	N	0.999999	B	0.15930	0.015	B	0.26693	0.072	T	0.39231	-0.9624	10	0.33940	T	0.23	.	10.492	0.44756	0.6451:0.0:0.3549:0.0	.	405	Q6NT55	CP4FN_HUMAN	F	405	ENSP00000269703:V405F	ENSP00000269703:V405F	V	+	1	0	CYP4F22	15519995	0.072000	0.21174	0.001000	0.08648	0.202000	0.24057	0.331000	0.19733	-0.303000	0.08856	0.563000	0.77884	GTC	CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171954		0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	-	0	34	0	G	NM_173483		15658995	1	tier1	-	no_errors	ENST00000269703	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.003	T	T	15658995	G	T	15658995	3	4	29	1	0	0	0	0	1	0	0	0	4198	1377	48	3	1247	3	CYP4F22	19	15658995	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1620178	15658995	43469988	149	7249											
FCHO1	23149	genome.wustl.edu	37	chr19	17893856	17893856	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtaactggggagctgacCatgaccttccctgctggcat	8	9	12	12	1	0	2	0	2	0	0	1	4	1	3	3	3	3	4	3	3	1	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:17893856C>A	ENST00000596536.1	+	24	2251	c.1968C>A	c.(1966-1968)acC>acA	p.T656T	FCHO1_ENST00000539407.1_Silent_p.T656T|FCHO1_ENST00000600676.1_Silent_p.T656T|FCHO1_ENST00000595033.1_Silent_p.T606T|FCHO1_ENST00000596951.1_Silent_p.T656T|FCHO1_ENST00000594202.1_Silent_p.T656T|FCHO1_ENST00000597512.1_Silent_p.T663T|FCHO1_ENST00000252771.7_Silent_p.T656T|FCHO1_ENST00000389133.4_Silent_p.T656T	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	656	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGGAGCTGACCATGACCTTCC	0.602																																																	0													137	104	115					19																	17893856		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.1968C>A	19.37:g.17893856C>A			A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.T656	ENST00000596536.1	37	c.1968	CCDS32955.1	19																																																																																			FCHO1	-	pfam_Muniscin_C-term_mu_dom	ENSG00000130475		0.602	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	-	0	62	0	C	NM_015122		17893856	1	tier1	-	no_errors	ENST00000252771	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	A	A	17893856	C	A	17893856	2	1	29	1	0	0	0	0	0	0	0	1	5809	581	21	3		3	FCHO1	19	17893856	Silent	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	2234861	17893856	41235127	150	7250											
PNMAL1	55228	genome.wustl.edu	37	chr19	46973274	46973274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttggtgggctttcatggCcaccatcttggtctgactca	5	15	10	11	0	5	1	2	1	3	0	5	1	5	1	2	4	0	1	2	4	0	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:46973274C>A	ENST00000313683.10	-	2	1324	c.1019G>T	c.(1018-1020)gGc>gTc	p.G340V	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.G340V	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	340										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCTTTCATGGCCACCATCTTG	0.612																																																	0													121	135	130					19																	46973274		2203	4300	6503	SO:0001583	missense	0			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1019G>T	19.37:g.46973274C>A	ENSP00000318131:p.Gly340Val		A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Missense_Mutation	SNP	NULL	p.G340V	ENST00000313683.10	37	c.1019	CCDS33059.1	19	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107357	0.56291	.	.	ENSG00000182013	ENST00000438932;ENST00000313683	T;T	0.42900	0.96;0.99	3.94	3.94	0.45596	.	0.483859	0.17599	N	0.168481	T	0.47303	0.1438	L	0.34521	1.04	0.22266	N	0.999247	D;D	0.67145	0.992;0.996	P;P	0.59761	0.863;0.863	T	0.29579	-1.0007	10	0.66056	D	0.02	-11.3344	11.7787	0.52001	0.0:1.0:0.0:0.0	.	340;340	Q86V59-2;Q86V59	.;PNML1_HUMAN	V	340	ENSP00000410273:G340V;ENSP00000318131:G340V	ENSP00000318131:G340V	G	-	2	0	PNMAL1	51665114	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	0.055000	0.14229	2.491000	0.84063	0.655000	0.94253	GGC	PNMAL1	-	NULL	ENSG00000182013		0.612	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNMAL1	HGNC	protein_coding	OTTHUMT00000403929.1	-	0	21	0	C	NM_018215		46973274	-1	tier1	-	no_errors	ENST00000313683	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.005	A	A	46973274	C	A	46973274	3	1	29	1	0	0	0	0	1	0	0	0	12196	739	26	3	330	3	PNMAL1	19	46973274	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	29079418	46973274	12155709	151	7251											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47423600	47423600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtaccacccaacaaaGgagacatgccccagctgccc	11	7	8	15	0	0	1	0	0	0	1	0	2	0	1	5	1	5	2	5	1	3	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:47423600G>T	ENST00000404338.3	+	1	1668	c.1668G>T	c.(1666-1668)aaG>aaT	p.K556N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	556					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										ACCCAACAAAGGAGACATGCC	0.468																																																	0													122	122	122					19																	47423600		2020	4191	6211	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1668G>T	19.37:g.47423600G>T	ENSP00000385720:p.Lys556Asn		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K556N	ENST00000404338.3	37	c.1668	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488998	0.44249	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.08896	3.04	5.95	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	M	0.68952	2.095	0.54753	D	0.999987	D	0.62365	0.991	P	0.60541	0.876	T	0.00460	-1.1726	10	0.66056	D	0.02	-37.5176	11.7764	0.51987	0.1436:0.0:0.8564:0.0	.	556	Q9NRY4-2	.	N	556	ENSP00000385720:K556N	ENSP00000324820:K556N	K	+	3	2	ARHGAP35	52115440	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.399000	0.34566	0.867000	0.35654	0.655000	0.94253	AAG	ARHGAP35	-	NULL	ENSG00000160007		0.468	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1		0	46	0	G	NM_004491		47423600	1			no_errors	ENST00000404338	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	47423600	G	T	47423600	3	4	29	1	0	0	0	0	1	0	0	0	6822	991	35	3	1670	3	ARHGAP35	19	47423600	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	450326	47423600	11705383	152	7252											
DHX34	9704	genome.wustl.edu	37	chr19	47870310	47870310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaccagccagcctggaaAccgccatcctctacctccgg	9	5	7	20	2	1	0	0	0	1	0	3	1	3	1	9	2	4	0	9	2	2	1	rs200731942		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:47870310A>G	ENST00000328771.4	+	7	2015	c.1666A>G	c.(1666-1668)Acc>Gcc	p.T556A	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	556					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T556A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCCTGGAAACCGCCATCCT	0.612																																																	1	Substitution - Missense(1)	skin(1)											36	38	37					19																	47870310		2203	4287	6490	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1666A>G	19.37:g.47870310A>G	ENSP00000331907:p.Thr556Ala		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T556A	ENST00000328771.4	37	c.1666	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870215	0.17322	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02472	4.28	5.46	5.46	0.80206	Helicase-associated domain (1);	0.000000	0.64402	D	0.000005	T	0.03651	0.0104	L	0.31926	0.97	0.58432	D	0.999997	B	0.33171	0.4	B	0.33196	0.159	T	0.53872	-0.8377	10	0.49607	T	0.09	-21.9691	14.4994	0.67711	1.0:0.0:0.0:0.0	.	556	Q14147	DHX34_HUMAN	A	556;471	ENSP00000331907:T556A	ENSP00000257252:T471A	T	+	1	0	DHX34	52562145	1.000000	0.71417	0.392000	0.26245	0.658000	0.38924	5.824000	0.69279	2.066000	0.61787	0.459000	0.35465	ACC	DHX34	-	superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000134815		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3		0	110	0	A	NM_014681		47870310	1			no_errors	ENST00000328771	ensembl	human	known	74_37	missense	6.52	86	6	SNP	1.000	G	G	47870310	A	G	47870310	3	3	29	1	0	0	0	0	1	0	0	0	4521	43	2	4	1688	4	DHX34	19	47870310	Missense_Mutation	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	446710	47870310	11258673	153	7253											
DBP	1628	genome.wustl.edu	37	chr19	49134209	49134209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgttctccttctccaggaagGccgcccgcaccgatatctgg	6	9	10	16	4	3	0	0	0	3	0	5	2	3	1	5	3	0	2	5	3	2	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:49134209G>T	ENST00000222122.5	-	4	1306	c.863C>A	c.(862-864)gCc>gAc	p.A288D	DBP_ENST00000599385.1_Missense_Mutation_p.A86D|DBP_ENST00000593500.1_Missense_Mutation_p.A86D	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	288	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CTCCAGGAAGGCCGCCCGCAC	0.652																																																	0													25	27	27					19																	49134209		2202	4300	6502	SO:0001583	missense	0			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.863C>A	19.37:g.49134209G>T	ENSP00000222122:p.Ala288Asp		A2I2P4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.A288D	ENST00000222122.5	37	c.863	CCDS12728.1	19	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453296	0.84209	.	.	ENSG00000105516	ENST00000222122	T	0.42900	0.96	4.81	4.81	0.61882	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	U	0.000000	T	0.54549	0.1865	L	0.48218	1.51	0.58432	D	0.999997	P	0.37083	0.581	P	0.53266	0.722	T	0.58092	-0.7697	10	0.87932	D	0	-8.6665	15.7386	0.77866	0.0:0.0:1.0:0.0	.	288	Q10586	DBP_HUMAN	D	288	ENSP00000222122:A288D	ENSP00000222122:A288D	A	-	2	0	DBP	53826021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.279000	0.72620	2.364000	0.80123	0.563000	0.77884	GCC	DBP	-	pfam_bZIP,smart_bZIP,pfscan_bZIP	ENSG00000105516		0.652	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBP	HGNC	protein_coding	OTTHUMT00000466167.1		0	68	0	G	NM_001352		49134209	-1			no_errors	ENST00000222122	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	49134209	G	T	49134209	3	4	29	1	0	0	0	0	1	0	0	0	4265	1203	42	3	118	3	DBP	19	49134209	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	1263899	49134209	9994774	154	7254											
KLK8	11202	genome.wustl.edu	37	chr19	51503963	51503963	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacttagtgaggaggtccaGgcttccacacgctgccacac	10	7	10	14	1	0	1	0	1	0	0	2	2	2	2	3	3	2	2	3	3	2	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:51503963G>T	ENST00000600767.1	-	4	560				KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.L28M|KLK8_ENST00000291726.7_Intron|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000598195.1_5'Flank			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGAGGTCCAGGCTTCCACAC	0.562																																																	0													59	60	60					19																	51503963		2203	4300	6503	SO:0001627	intron_variant	0			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"Kallikreins", "Serine peptidases / Serine peptidases"	6369	protein-coding gene	gene with protein product		605644	"kallikrein 8 (neuropsin/ovasin)"	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.71-124C>A	19.37:g.51503963G>T			Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L28M	ENST00000600767.1	37	c.82	CCDS12813.1	19	.	.	.	.	.	.	.	.	.	.	G	9.600	1.128437	0.21041	.	.	ENSG00000129455	ENST00000391806	D	0.88664	-2.41	3.91	-2.25	0.06888	.	.	.	.	.	T	0.72179	0.3428	N	0.08118	0	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.57802	-0.7748	9	0.37606	T	0.19	.	3.7119	0.08423	0.3412:0.0:0.4962:0.1626	.	28	O60259-2	.	M	28	ENSP00000375682:L28M	ENSP00000375682:L28M	L	-	1	2	KLK8	56195775	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.700000	0.05081	-0.368000	0.08040	0.561000	0.74099	CTG	KLK8	-	NULL	ENSG00000129455		0.562	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2		0	53	0	G	NM_007196		51503963	-1			no_errors	ENST00000391806	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	51503963	G	T	51503963	1	4	29	0	1	0	0	0	0	0	0	0	8437	991	35	3		3	KLK8	19	51503963	Intron	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	2369754	51503963	7625020	155	7255											
ZNF324B	388569	genome.wustl.edu	37	chr19	58965130	58965130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggggctcctggacacagCgcagagggccctgtaccgcc	6	5	16	14	2	0	1	0	0	0	1	1	2	1	2	4	4	2	3	4	4	1	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr19:58965130C>T	ENST00000336614.4	+	2	169	c.62C>T	c.(61-63)gCg>gTg	p.A21V	ZNF324B_ENST00000545523.1_Missense_Mutation_p.A21V|ZNF324B_ENST00000594214.1_Missense_Mutation_p.A21V|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTGGACACAGCGCAGAGGGCC	0.572																																																	0													137	99	111					19																	58965130		2203	4300	6503	SO:0001583	missense	0			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.62C>T	19.37:g.58965130C>T	ENSP00000337473:p.Ala21Val		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A21V	ENST00000336614.4	37	c.62	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	C	5.927	0.355001	0.11239	.	.	ENSG00000249471	ENST00000336614;ENST00000545523	T;T	0.02498	4.27;4.27	2.99	1.94	0.25998	Krueppel-associated box (4);	0.925481	0.08872	N	0.881444	T	0.04634	0.0126	M	0.71296	2.17	0.09310	N	0.999997	B	0.13145	0.007	B	0.13407	0.009	T	0.40040	-0.9584	10	0.51188	T	0.08	.	4.0949	0.09986	0.0:0.6123:0.2453:0.1424	.	21	Q6AW86	Z324B_HUMAN	V	21	ENSP00000337473:A21V;ENSP00000438930:A21V	ENSP00000337473:A21V	A	+	2	0	ZNF324B	63656942	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	0.067000	0.14510	0.445000	0.26639	0.467000	0.42956	GCG	ZNF324B	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000249471		0.572	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	HGNC	protein_coding	OTTHUMT00000467038.1	-	0	92	0	C	NM_207395		58965130	1	tier1	-	no_errors	ENST00000336614	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.001	T	T	58965130	C	T	58965130	3	4	29	1	0	0	0	0	1	0	0	0	17893	768	27	1	64	1	ZNF324B	19	58965130	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	7461167	58965130	163853	156	7256											
ASXL1	171023	genome.wustl.edu	37	chr20	31024504	31024504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttcctgctgagatccCtccagtttttcccagtggga	5	13	9	14	0	1	1	0	1	1	1	5	3	5	2	5	1	1	2	5	1	0	3	rs201002256		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr20:31024504C>A	ENST00000375687.4	+	13	4413	c.3989C>A	c.(3988-3990)cCt>cAt	p.P1330H	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1325H	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1330					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P1330H(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GCTGAGATCCCTCCAGTTTTT	0.567			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Missense(1)	large_intestine(1)											42	45	44					20																	31024504		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3989C>A	20.37:g.31024504C>A	ENSP00000364839:p.Pro1330His		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.P1330H	ENST00000375687.4	37	c.3989	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452308	0.43531	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.15487	2.42;2.42	4.56	4.56	0.56223	.	0.244954	0.36268	N	0.002697	T	0.30665	0.0772	L	0.36672	1.1	0.33311	D	0.566107	D;D	0.76494	0.999;0.999	D;P	0.64042	0.921;0.894	T	0.24048	-1.0171	10	0.72032	D	0.01	-14.7772	16.7751	0.85549	0.0:1.0:0.0:0.0	.	1325;1330	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	H	1330;1330;1330;1251;1325	ENSP00000364839:P1330H;ENSP00000305119:P1325H	ENSP00000305119:P1325H	P	+	2	0	ASXL1	30488165	0.445000	0.25657	0.993000	0.49108	0.519000	0.34347	0.918000	0.28678	2.826000	0.97356	0.561000	0.74099	CCT	ASXL1	-	NULL	ENSG00000171456		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2		0	64	0	C	NM_015338		31024504	1			no_errors	ENST00000375687	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.995	A	A	31024504	C	A	31024504	3	1	29	1	0	0	0	0	1	0	0	0	1067	681	24	3	4045	3	ASXL1	20	31024504	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09		31024504	32001016	157	7257											
RPN2	6185	genome.wustl.edu	37	chr20	35866820	35866820	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggatcgctgcagagcaGagcagtagattggcaaaata	14	6	14	7	1	0	3	0	0	0	3	1	4	0	4	0	3	3	7	0	3	4	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr20:35866820G>T	ENST00000237530.6	+	16	2194				RPN2_ENST00000470352.1_Intron|RPN2_ENST00000373622.5_Missense_Mutation_p.Q601H	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II						aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTGCAGAGCAGAGCAGTAGAT	0.507																																																	0													58	50	52					20																	35866820		1568	3582	5150	SO:0001627	intron_variant	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1883+1708G>T	20.37:g.35866820G>T			Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	pfam_Swp1	p.Q601H	ENST00000237530.6	37	c.1803	CCDS13291.1	20	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954815	0.73902	.	.	ENSG00000118705	ENST00000373622	T	0.46451	0.87	5.39	5.39	0.77823	.	.	.	.	.	T	0.59945	0.2231	.	.	.	0.29248	N	0.872168	D	0.61697	0.99	D	0.70487	0.969	T	0.57917	-0.7728	8	0.66056	D	0.02	.	9.9575	0.41675	0.0892:0.0:0.9108:0.0	.	601	Q5JYR6	.	H	601	ENSP00000362724:Q601H	ENSP00000362724:Q601H	Q	+	3	2	RPN2	35300234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.192000	0.50989	2.808000	0.96608	0.655000	0.94253	CAG	RPN2	-	NULL	ENSG00000118705		0.507	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	-	0	72	0	G	NM_002951		35866820	1	tier1	-	no_errors	ENST00000373622	ensembl	human	novel	74_37	missense	5.41	70	4	SNP	1.000	T	T	35866820	G	T	35866820	1	4	29	0	1	0	0	0	0	0	0	0	13653	933	33	3		3	RPN2	20	35866820	Intron	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	4842316	35866820	27158700	158	7258											
CCT8	10694	genome.wustl.edu	37	chr21	30435686	30435686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttacctcactaacatgaTattatatttatttgcataat	13	19	2	7	0	2	1	1	1	1	0	2	1	2	1	1	0	3	1	1	0	7	10			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr21:30435686T>C	ENST00000286788.4	-	8	1134	c.928A>G	c.(928-930)Atc>Gtc	p.I310V	CCT8_ENST00000542732.1_Missense_Mutation_p.I291V|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000540844.1_Missense_Mutation_p.I237V	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	310					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)	p.I310V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACTAACATGATATTATATTTA	0.353																																																	1	Substitution - Missense(1)	prostate(1)											74	76	75					21																	30435686		2203	4300	6503	SO:0001583	missense	0			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.928A>G	21.37:g.30435686T>C	ENSP00000286788:p.Ile310Val		A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta	p.I310V	ENST00000286788.4	37	c.928	CCDS33528.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.22|14.22	2.469237|2.469237	0.43839|0.43839	.|.	.|.	ENSG00000156261|ENSG00000156261	ENST00000431234|ENST00000389159;ENST00000286788;ENST00000542732;ENST00000540844	.|D;D;D	.|0.81996	.|-1.56;-1.56;-1.56	5.36|5.36	2.83|2.83	0.33086|0.33086	.|.	0.109676|0.109676	0.64402|0.64402	D|N	0.000006|0.000006	T|T	0.79592|0.79592	0.4472|0.4472	M|M	0.66506|0.66506	2.035|2.035	0.39067|0.39067	D|D	0.960647|0.960647	.|B;B;B;B;B	.|0.17268	.|0.013;0.019;0.003;0.002;0.021	.|B;B;B;B;B	.|0.27887	.|0.037;0.084;0.021;0.012;0.055	T|T	0.76421|0.76421	-0.2965|-0.2965	6|10	.|0.52906	.|T	.|0.07	-8.1473|-8.1473	7.1377|7.1377	0.25537|0.25537	0.0:0.087:0.3184:0.5946|0.0:0.087:0.3184:0.5946	.|.	.|237;291;310;309;310	.|B4DQH4;B4DEM7;Q53HU0;G5E9B2;P50990	.|.;.;.;.;TCPQ_HUMAN	M|V	255|309;310;291;237	.|ENSP00000286788:I310V;ENSP00000444984:I291V;ENSP00000442730:I237V	.|ENSP00000286788:I310V	I|I	-|-	3|1	3|0	CCT8|CCT8	29357557|29357557	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.904000|0.904000	0.53231|0.53231	4.506000|4.506000	0.60428|0.60428	0.979000|0.979000	0.38497|0.38497	0.383000|0.383000	0.25322|0.25322	ATA|ATC	CCT8	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_theta	ENSG00000156261		0.353	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	-	0	42	0	T			30435686	-1	tier1	-	no_errors	ENST00000286788	ensembl	human	known	74_37	missense	35.71	17	10	SNP	0.998	C	C	30435686	T	C	30435686	3	2	29	1	0	0	0	0	1	0	0	0	2967	1406	49	4	750	4	CCT8	21	30435686	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09		30435686	17694209	159	7259											
SYNJ1	8867	genome.wustl.edu	37	chr21	34038771	34038771	+	Frame_Shift_Del	DEL	T	T	-																															aggagcatgctgtggtctgaTaaaaacaaacaaacagacgc																										TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr21:34038771delT	ENST00000322229.7	-	15	1923	c.1924delA	c.(1924-1926)atcfs	p.I642fs	SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.I681fs|SYNJ1_ENST00000382499.2_Frame_Shift_Del_p.I681fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.I642fs|SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.I637fs			O43426	SYNJ1_HUMAN	synaptojanin 1	642	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGTGGTCTGATAAAAACAAAC	0.418																																																	0													189	199	196					21																	34038771		2203	4300	6503	SO:0001589	frameshift_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1924delA	21.37:g.34038771delT	ENSP00000322234:p.Ile642fs		O43425|O94984|Q4KMR1	Frame_Shift_Del	DEL	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.I681fs	ENST00000322229.7	37	c.2041	CCDS54484.1	21																																																																																			SYNJ1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000159082		0.418	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding			0	78	0	T			34038771	-1	tier1		no_errors	ENST00000433931	ensembl	human	known	74_37	frame_shift_del	42.62	35	26	DEL	1.000	-	-	34038771	T	-	34038771	7	5	29	1	0	1	0	1	0	0	0	0	15499	1406	49	0	2890	0	SYNJ1	21	34038771	Frame_Shift_Del	DEL	T	TCGA-IG-A6QS-01A-12D-A33E-09	3603085	34038771	14091124	160	7260											
HORMAD2	150280	genome.wustl.edu	37	chr22	30572125	30572125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaaggtcagtgaacCagtgaaggtcttcatcccta	13	8	12	8	0	3	3	2	2	1	1	4	5	4	4	2	3	1	0	2	3	5	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr22:30572125C>A	ENST00000336726.6	+	11	1248	c.893C>A	c.(892-894)cCa>cAa	p.P298Q	HORMAD2_ENST00000403975.1_Missense_Mutation_p.P298Q	NM_152510.2	NP_689723.1	Q8N7B1	HORM2_HUMAN	HORMA domain containing 2	298					meiotic nuclear division (GO:0007126)|meiotic sister chromatid cohesion (GO:0051177)	chromosome (GO:0005694)|nucleus (GO:0005634)				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GTCAGTGAACCAGTGAAGGTC	0.358																																																	0													91	90	91					22																	30572125		1861	4112	5973	SO:0001583	missense	0			AK098703	CCDS46683.1	22q12.2	2014-01-21			ENSG00000176635	ENSG00000176635			28383	protein-coding gene	gene with protein product						12477932	Standard	NM_152510		Approved	MGC26710, CT46.2	uc003agy.3	Q8N7B1	OTTHUMG00000150881	ENST00000336726.6:c.893C>A	22.37:g.30572125C>A	ENSP00000336984:p.Pro298Gln		B5MEB2|Q8NHR2	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.P298Q	ENST00000336726.6	37	c.893	CCDS46683.1	22	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772443	0.49680	.	.	ENSG00000176635	ENST00000336726;ENST00000403975	T;T	0.32023	1.47;1.47	5.86	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.36880	0.0983	N	0.24115	0.695	0.37190	D	0.903881	D	0.76494	0.999	D	0.66716	0.946	T	0.34900	-0.9810	10	0.72032	D	0.01	-5.7616	9.9085	0.41390	0.0:0.91:0.0:0.0899	.	298	Q8N7B1	HORM2_HUMAN	Q	298	ENSP00000336984:P298Q;ENSP00000385055:P298Q	ENSP00000336984:P298Q	P	+	2	0	HORMAD2	28902125	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	1.497000	0.35649	2.781000	0.95711	0.650000	0.86243	CCA	HORMAD2	-	NULL	ENSG00000176635		0.358	HORMAD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HORMAD2	HGNC	protein_coding	OTTHUMT00000320416.2	-	0	89	0	C	NM_152510		30572125	1	tier1	-	no_errors	ENST00000336726	ensembl	human	known	74_37	missense	5.05	94	5	SNP	1.000	A	A	30572125	C	A	30572125	3	1	29	1	0	0	0	0	1	0	0	0	7314	594	21	3	931	3	HORMAD2	22	30572125	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09		30572125	20732441	161	7261											
EP300	2033	genome.wustl.edu	37	chr22	41574330	41574330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaataggccctggaatGgccaaccataaccagttcca	13	6	9	13	0	0	0	0	0	0	0	1	2	1	2	6	4	2	1	6	4	5	3			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr22:41574330G>T	ENST00000263253.7	+	31	7834	c.6615G>T	c.(6613-6615)atG>atT	p.M2205I	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2205	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCCTGGAATGGCCAACCATA	0.527			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													61	59	60					22																	41574330		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6615G>T	22.37:g.41574330G>T	ENSP00000263253:p.Met2205Ile		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.M2205I	ENST00000263253.7	37	c.6615	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608613	0.28623	.	.	ENSG00000100393	ENST00000263253	D	0.82984	-1.67	5.5	4.49	0.54785	.	0.218226	0.30850	N	0.008756	T	0.73055	0.3538	L	0.29908	0.895	0.46356	D	0.999002	B	0.02656	0.0	B	0.01281	0.0	T	0.66085	-0.6011	10	0.18710	T	0.47	-1.7948	13.8478	0.63479	0.073:0.0:0.927:0.0	.	2205	Q09472	EP300_HUMAN	I	2205	ENSP00000263253:M2205I	ENSP00000263253:M2205I	M	+	3	0	EP300	39904276	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	4.328000	0.59253	1.319000	0.45190	0.655000	0.94253	ATG	EP300	-	NULL	ENSG00000100393		0.527	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1		0	51	0	G	NM_001429		41574330	1			no_errors	ENST00000263253	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	41574330	G	T	41574330	3	4	29	1	0	0	0	0	1	0	0	0	5164	1348	47	3	6737	3	EP300	22	41574330	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	11002205	41574330	9730236	162	7262											
TOB2	10766	genome.wustl.edu	37	chr22	41832910	41832910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagttggacagggagctgTcctggctgccaatgggcacg	7	7	18	9	1	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	1	1			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chr22:41832910T>C	ENST00000327492.3	-	2	1146	c.440A>G	c.(439-441)gAc>gGc	p.D147G		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	147					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CAGGGAGCTGTCCTGGCTGCC	0.622																																																	0													87	76	80					22																	41832910		2203	4300	6503	SO:0001583	missense	0			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.440A>G	22.37:g.41832910T>C	ENSP00000331305:p.Asp147Gly		Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.D147G	ENST00000327492.3	37	c.440	CCDS14015.1	22	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370933	0.24771	.	.	ENSG00000183864	ENST00000327492	T	0.44083	0.93	6.07	5.03	0.67393	.	0.121832	0.56097	N	0.000032	T	0.33644	0.0870	L	0.51422	1.61	0.36833	D	0.886999	B	0.25850	0.136	B	0.24006	0.05	T	0.28004	-1.0057	10	0.22109	T	0.4	.	7.9794	0.30175	0.0:0.0683:0.1369:0.7948	.	147	Q14106	TOB2_HUMAN	G	147	ENSP00000331305:D147G	ENSP00000331305:D147G	D	-	2	0	TOB2	40162856	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.921000	0.40035	1.111000	0.41721	0.533000	0.62120	GAC	TOB2	-	NULL	ENSG00000183864		0.622	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	-	0	40	0	T	NM_016272		41832910	-1	tier1	-	no_errors	ENST00000327492	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	C	C	41832910	T	C	41832910	3	2	29	1	0	0	0	0	1	0	0	0	16395	1667	58	4	598	4	TOB2	22	41832910	Missense_Mutation	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	258580	41832910	9471656	163	7263											
DGKK	139189	genome.wustl.edu	37	chrX	50122993	50122993	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaacctccaaatgcactcGttcttccagtttcctgtaag	10	13	5	13	1	1	0	0	0	1	0	5	0	4	0	4	0	2	4	4	0	3	5	rs370221683		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chrX:50122993G>A	ENST00000376025.2	-	0	2799							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AAATGCACTCGTTCTTCCAGT	0.468																																																	0								G	stop/ARG	0,3145		0,0,1287,571	140	121	127		2740	5.2	1	X		127	1,6422		0,1,2319,1783	no	stop-gained	DGKK	NM_001013742.2		0,1,3606,2354	AA,AG,GG,G		0.0156,0.0,0.0105		914/1272	50122993	1,9567	1858	4103	5961			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50122993G>A			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.468	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0	37	0	G	NM_001013742		50122993	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	60.00	16	24	SNP	1.000	A	A	50122993	G	A	50122993	1	1	29	0	1	0	0	0	0	0	0	0	4486	1153	40	1		1	DGKK	23	50122993	RNA	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09		50122993	105147567	164	7264											
ITGB1BP2	26548	genome.wustl.edu	37	chrX	70523687	70523687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttggagctgttgtggcAtccagaccctggattttggg	6	13	14	8	0	1	1	0	0	1	1	2	3	2	3	2	4	1	3	2	4	0	4			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chrX:70523687A>T	ENST00000373829.3	+	8	638	c.565A>T	c.(565-567)Atc>Ttc	p.I189F	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000538820.1_Missense_Mutation_p.I171F	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	189	CHORD 2. {ECO:0000255|PROSITE- ProRule:PRU00734}.|Cys-rich.				muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					CTGTTGTGGCATCCAGACCCT	0.468																																																	0													52	47	49					X																	70523687		2203	4300	6503	SO:0001583	missense	0			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.565A>T	X.37:g.70523687A>T	ENSP00000362935:p.Ile189Phe		Q32N04|Q549J7	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.I189F	ENST00000373829.3	37	c.565	CCDS14411.1	X	.	.	.	.	.	.	.	.	.	.	a	16.18	3.051160	0.55218	.	.	ENSG00000147166	ENST00000373829;ENST00000538820	.	.	.	5.17	3.98	0.46160	Cysteine/histidine-rich domain (2);	0.162160	0.52532	D	0.000067	T	0.67040	0.2851	L	0.59436	1.845	0.58432	D	0.999991	D;D	0.71674	0.993;0.998	P;D	0.72338	0.896;0.977	T	0.68157	-0.5483	9	0.59425	D	0.04	-7.2577	6.7293	0.23375	0.891:0.0:0.109:0.0	.	171;189	Q32N04;Q9UKP3	.;ITBP2_HUMAN	F	189;171	.	ENSP00000362935:I189F	I	+	1	0	ITGB1BP2	70440412	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.643000	0.46604	1.894000	0.54839	0.486000	0.48141	ATC	ITGB1BP2	-	pfam_CHORD	ENSG00000147166		0.468	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB1BP2	HGNC	protein_coding	OTTHUMT00000057126.1	-	0	17	0	A	NM_012278		70523687	1	tier1	-	no_errors	ENST00000373829	ensembl	human	known	74_37	missense	85.71	4	24	SNP	1.000	T	T	70523687	A	T	70523687	3	4	29	1	0	0	0	0	1	0	0	0	7919	217	8	5	595	5	ITGB1BP2	23	70523687	Missense_Mutation	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	20400694	70523687	84746873	165	7265											
DIAPH2	1730	genome.wustl.edu	37	chrX	96396712	96396712	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaacccttttgcattttAttgccgacatttgtgaggaa	12	14	7	8	1	0	1	0	1	0	0	0	3	0	2	2	1	4	1	2	1	4	6			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chrX:96396712A>G	ENST00000324765.8	+	22	2985	c.2638A>G	c.(2638-2640)Att>Gtt	p.I880V	DIAPH2_ENST00000373054.4_Missense_Mutation_p.I876V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.I880V|DIAPH2_ENST00000373049.4_Missense_Mutation_p.I880V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.I880V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	880	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTGCATTTTATTGCCGACAT	0.313																																																	0													67	61	63					X																	96396712		2203	4299	6502	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2638A>G	X.37:g.96396712A>G	ENSP00000321348:p.Ile880Val		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.I880V	ENST00000324765.8	37	c.2638	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	A	9.141	1.013917	0.19277	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.46	-4.8	0.03190	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.549745	0.16897	N	0.195057	T	0.08044	0.0201	N	0.05177	-0.1	0.25414	N	0.988335	B;B	0.16603	0.018;0.015	B;B	0.22152	0.038;0.023	T	0.23940	-1.0174	10	0.62326	D	0.03	.	13.9641	0.64199	0.1322:0.7062:0.0:0.1616	.	880;880	O60879;O60879-2	DIAP2_HUMAN;.	V	880;876;880;880;880;887	ENSP00000362152:I880V;ENSP00000362145:I876V;ENSP00000348082:I880V;ENSP00000362140:I880V;ENSP00000321348:I880V	ENSP00000321348:I880V	I	+	1	0	DIAPH2	96283368	0.996000	0.38824	0.953000	0.39169	0.043000	0.13939	0.582000	0.23834	-0.828000	0.04273	-0.378000	0.06908	ATT	DIAPH2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000147202		0.313	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0	89	0	A	NM_006729, NM_007309		96396712	1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	84.66	27	149	SNP	0.942	G	G	96396712	A	G	96396712	3	3	29	1	0	0	0	0	1	0	0	0	4533	449	16	4	2724	4	DIAPH2	23	96396712	Missense_Mutation	SNP	A	TCGA-IG-A6QS-01A-12D-A33E-09	25873025	96396712	58873848	166	7266											
SRPX2	27286	genome.wustl.edu	37	chrX	99920277	99920277	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgctgtccccactcacgTgagaagatggcagagccaga	11	6	11	13	2	1	4	1	1	0	4	3	5	3	4	4	1	1	2	4	1	1	0			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chrX:99920277T>G	ENST00000373004.3	+	6	998	c.570T>G	c.(568-570)cgT>cgG	p.R190R		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	190	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCCACTCACGTGAGAAGATGG	0.532																																																	0													86	71	76					X																	99920277		2203	4300	6503	SO:0001819	synonymous_variant	0			AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"sushi-repeat-containing protein, X-linked 2"			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.570T>G	X.37:g.99920277T>G			B3KQT3|Q8WW85	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.R190	ENST00000373004.3	37	c.570	CCDS14471.1	X																																																																																			SRPX2	-	pfam_Hyalin,pfscan_Hyalin	ENSG00000102359		0.532	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX2	HGNC	protein_coding	OTTHUMT00000057486.1	-	0	28	0	T	NM_014467		99920277	1	tier1	-	no_errors	ENST00000373004	ensembl	human	known	74_37	silent	89.06	7	57	SNP	0.978	G	G	99920277	T	G	99920277	2	3	29	1	0	0	0	0	0	0	0	1	15212	1683	59	4		4	SRPX2	23	99920277	Silent	SNP	T	TCGA-IG-A6QS-01A-12D-A33E-09	3523565	99920277	55350283	167	7267											
DRP2	1821	genome.wustl.edu	37	chrX	100515128	100515128	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagtcacccccgggagaagGgacagactactccagatacc	12	4	11	14	1	1	3	1	0	0	3	2	5	2	4	4	2	2	1	4	2	3	2	rs575075803		TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chrX:100515128G>T	ENST00000395209.3	+	23	3246	c.2719G>T	c.(2719-2721)Gga>Tga	p.G907*	DRP2_ENST00000538510.1_Nonsense_Mutation_p.G907*|DRP2_ENST00000402866.1_Nonsense_Mutation_p.G907*|DRP2_ENST00000541709.1_Nonsense_Mutation_p.G829*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	907					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCGGGAGAAGGGACAGACTAC	0.602																																																	0													103	87	92					X																	100515128		2203	4300	6503	SO:0001587	stop_gained	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2719G>T	X.37:g.100515128G>T	ENSP00000378635:p.Gly907*		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Nonsense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.G907*	ENST00000395209.3	37	c.2719	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	40	8.395949	0.98794	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	.	.	.	4.94	4.94	0.65067	.	0.274627	0.43416	D	0.000561	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-3.3733	15.5867	0.76489	0.0:0.0:1.0:0.0	.	.	.	.	X	907;907;829;907	.	ENSP00000378635:G907X	G	+	1	0	DRP2	100401784	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	5.079000	0.64431	2.037000	0.60232	0.529000	0.55759	GGA	DRP2	-	pirsf_Dystrophin-related_2	ENSG00000102385		0.602	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3		0	27	0	G	NM_001939		100515128	1			no_errors	ENST00000395209	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	100515128	G	T	100515128	4	4	29	1	0	0	0	0	0	1	0	0	4778	1233	43	3	2801	3	DRP2	23	100515128	Nonsense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	594851	100515128	54755432	168	7268											
TRPC5	7224	genome.wustl.edu	37	chrX	111078315	111078315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaggccaaatacagacCagaagagtgactgaagagtc	18	6	10	7	0	0	6	0	2	0	4	1	6	0	6	2	1	1	0	2	1	6	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chrX:111078315C>G	ENST00000262839.2	-	7	2648	c.1730G>C	c.(1729-1731)tGg>tCg	p.W577S		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	577					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAATACAGACCAGAAGAGTGA	0.383																																																	0													199	197	198					X																	111078315		2203	4300	6503	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1730G>C	X.37:g.111078315C>G	ENSP00000262839:p.Trp577Ser		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.W577S	ENST00000262839.2	37	c.1730	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523480	0.85600	.	.	ENSG00000072315	ENST00000262839	D	0.98345	-4.88	5.56	5.56	0.83823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99233	0.9733	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99180	1.0867	10	0.87932	D	0	-8.0239	18.5256	0.90971	0.0:1.0:0.0:0.0	.	578;577	Q59G51;Q9UL62	.;TRPC5_HUMAN	S	577	ENSP00000262839:W577S	ENSP00000262839:W577S	W	-	2	0	TRPC5	110964971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.318000	0.78349	0.544000	0.68410	TGG	TRPC5	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000072315		0.383	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	-	0	34	0	C	NM_012471		111078315	-1	tier1	-	no_errors	ENST00000262839	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	G	G	111078315	C	G	111078315	3	3	29	1	0	0	0	0	1	0	0	0	16630	595	21	5	1211	5	TRPC5	23	111078315	Missense_Mutation	SNP	C	TCGA-IG-A6QS-01A-12D-A33E-09	10563187	111078315	44192245	169	7269											
PNCK	139728	genome.wustl.edu	37	chrX	152936413	152936413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaggtgaacctcttctGggggtctcgctccagaaggt	6	11	14	10	1	3	2	0	1	3	1	5	2	4	2	2	5	1	2	2	5	2	2			TCGA-IG-A6QS-01A-12D-A33E-09	TCGA-IG-A6QS-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c3694006-14cb-482e-ae99-3b3aceff2c48	7adcaf5d-39b3-438d-80e5-d9717da2d1a6	g.chrX:152936413G>T	ENST00000370150.1	-	9	944	c.766C>A	c.(766-768)Cag>Aag	p.Q256K	PNCK_ENST00000340888.3_Missense_Mutation_p.Q256K|PNCK_ENST00000370145.4_Missense_Mutation_p.Q273K|PNCK_ENST00000447676.2_Missense_Mutation_p.Q339K|PNCK_ENST00000370142.1_Missense_Mutation_p.Q279K|PNCK_ENST00000393831.2_Missense_Mutation_p.Q279K|PNCK_ENST00000475172.1_5'Flank			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACCTCTTCTGGGGGTCTCGC	0.632																																																	0													58	57	57					X																	152936413		2203	4300	6503	SO:0001583	missense	0			BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"pregnancy upregulated non-ubiquitously expressed CaM kinase", "pregnancy up-regulated non-ubiquitously expressed CaM kinase"			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.766C>A	X.37:g.152936413G>T	ENSP00000359169:p.Gln256Lys		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q339K	ENST00000370150.1	37	c.1015		X	.	.	.	.	.	.	.	.	.	.	g	5.787	0.329508	0.10956	.	.	ENSG00000130822	ENST00000340888;ENST00000370150;ENST00000393831;ENST00000370142;ENST00000370145;ENST00000447676	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.4	3.46	0.39613	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.109095	0.37178	N	0.002217	T	0.25158	0.0611	N	0.01284	-0.91	0.28087	N	0.931965	P;B;B	0.34587	0.458;0.139;0.139	B;B;B	0.31869	0.137;0.056;0.056	T	0.39333	-0.9619	10	0.02654	T	1	-27.155	10.0389	0.42146	0.0:0.487:0.513:0.0	.	339;273;256	Q6P2M8-5;B4E1A6;Q6P2M8	.;.;KCC1B_HUMAN	K	256;256;279;279;273;339	ENSP00000340586:Q256K;ENSP00000359169:Q256K;ENSP00000377417:Q279K;ENSP00000359161:Q279K;ENSP00000359164:Q273K;ENSP00000405950:Q339K	ENSP00000340586:Q256K	Q	-	1	0	PNCK	152589607	0.070000	0.21116	0.937000	0.37676	0.962000	0.63368	0.917000	0.28665	1.924000	0.55735	0.529000	0.55759	CAG	PNCK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000130822		0.632	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	PNCK	HGNC	protein_coding	OTTHUMT00000061044.2		0	34	0	G	NM_198452		152936413	-1			no_errors	ENST00000447676	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.964	T	T	152936413	G	T	152936413	3	4	29	1	0	0	0	0	1	0	0	0	12184	1357	47	3	277	3	PNCK	23	152936413	Missense_Mutation	SNP	G	TCGA-IG-A6QS-01A-12D-A33E-09	41858098	152936413	2334147	170	7270											
HSPG2	3339	genome.wustl.edu	37	chr1	22203105	22203105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtactcaggtggaaagagCcgtcagcacattcattgcac	11	8	12	10	1	3	1	3	0	0	1	3	2	3	2	1	3	4	3	1	3	2	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:22203105C>T	ENST00000374695.3	-	22	2805	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	909	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.			G -> R (in Ref. 2; CAA44373 and 6; AAB21121). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGGAAAGAGCCGTCAGCACA	0.597																																																	0													112	86	95					1																	22203105		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2726G>A	1.37:g.22203105C>T	ENSP00000363827:p.Gly909Asp		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G909D	ENST00000374695.3	37	c.2726	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635943	0.47049	.	.	ENSG00000142798	ENST00000374695	T	0.68624	-0.34	5.01	5.01	0.66863	EGF-like, laminin (3);	0.000000	0.40640	N	0.001041	D	0.85517	0.5715	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88345	0.2977	10	0.52906	T	0.07	.	15.8253	0.78698	0.0:1.0:0.0:0.0	.	909	P98160	PGBM_HUMAN	D	909	ENSP00000363827:G909D	ENSP00000363827:G909D	G	-	2	0	HSPG2	22075692	1.000000	0.71417	0.657000	0.29651	0.017000	0.09413	5.200000	0.65158	2.339000	0.79563	0.561000	0.74099	GGC	HSPG2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000142798		0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0	25	0	C	NM_005529		22203105	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	22203105	C	T	22203105	3	4	30	1	0	0	0	0	1	0	0	0	7457	739	26	3	10753	3	HSPG2	1	22203105	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		22203105	227047516	1	7271											
INADL	10207	genome.wustl.edu	37	chr1	62483567	62483567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggaagaagtcaccaaaatGcatctgccattattaagact	16	10	7	8	0	2	2	1	0	1	2	2	3	2	3	2	1	2	1	2	1	6	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:62483567G>T	ENST00000371158.2	+	29	4021	c.3907G>T	c.(3907-3909)Gca>Tca	p.A1303S	INADL_ENST00000543708.1_Missense_Mutation_p.A87S|INADL_ENST00000316485.6_Missense_Mutation_p.A1303S|INADL_ENST00000545929.1_Intron	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1303	PDZ 7. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCACCAAAATGCATCTGCCAT	0.353																																																	0													144	132	136					1																	62483567		2203	4300	6503	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3907G>T	1.37:g.62483567G>T	ENSP00000360200:p.Ala1303Ser		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.A1303S	ENST00000371158.2	37	c.3907	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762927	0.89932	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000307297;ENST00000543708	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.24	5.24	0.73138	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000002	T	0.76428	0.3986	M	0.91196	3.185	0.80722	D	1	P;D;P;P;P	0.52996	0.909;0.957;0.692;0.551;0.631	D;D;D;D;P	0.73708	0.981;0.981;0.922;0.931;0.8	T	0.82277	-0.0537	10	0.87932	D	0	.	18.8103	0.92056	0.0:0.0:1.0:0.0	.	87;762;1303;1303;1303	B4DE90;Q8NI35-5;F8W8T2;Q8NI35;Q8NI35-4	.;.;.;INADL_HUMAN;.	S	1303;1303;1303;1303;87;87	ENSP00000360200:A1303S;ENSP00000326199:A1303S;ENSP00000307496:A87S;ENSP00000445790:A87S	ENSP00000307496:A87S	A	+	1	0	INADL	62256155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.493000	0.90474	2.437000	0.82529	0.591000	0.81541	GCA	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.353	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	-	0	41	0	G	NM_170605		62483567	1	tier1	-	no_errors	ENST00000371158	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	62483567	G	T	62483567	3	4	30	1	0	0	0	0	1	0	0	0	7758	1319	46	3	4017	3	INADL	1	62483567	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	40280462	62483567	186767054	2	7272											
CLCA4	22802	genome.wustl.edu	37	chr1	87025637	87025637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggtgactacagcttctaCgtacctgtttgaagccacag	10	12	9	10	1	1	2	0	2	1	0	1	2	1	2	2	1	5	3	2	1	5	6			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:87025637C>T	ENST00000370563.3	+	2	224	c.182C>T	c.(181-183)aCg>aTg	p.T61M	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	61	Metalloprotease domain. {ECO:0000250|UniProtKB:A8K7I4}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.T61M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ACAGCTTCTACGTACCTGTTT	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											138	124	128					1																	87025637		1820	4083	5903	SO:0001583	missense	0			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.182C>T	1.37:g.87025637C>T	ENSP00000359594:p.Thr61Met		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.T61M	ENST00000370563.3	37	c.182	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303901	0.40795	.	.	ENSG00000016602	ENST00000370563	T	0.12465	2.68	5.82	2.79	0.32731	Chloride channel calcium-activated (1);	0.957600	0.08747	N	0.899695	T	0.10380	0.0254	M	0.72894	2.215	0.18873	N	0.999986	P	0.42483	0.781	P	0.48571	0.582	T	0.30357	-0.9981	10	0.33940	T	0.23	-4.8939	6.2731	0.20965	0.2637:0.5996:0.0:0.1366	.	61	Q14CN2	CLCA4_HUMAN	M	61	ENSP00000359594:T61M	ENSP00000359594:T61M	T	+	2	0	CLCA4	86798225	0.000000	0.05858	0.161000	0.22692	0.786000	0.44442	0.637000	0.24659	0.768000	0.33290	0.655000	0.94253	ACG	CLCA4	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000016602		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1		0	20	0	C	NM_012128		87025637	1			no_errors	ENST00000370563	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.010	T	T	87025637	C	T	87025637	3	4	30	1	0	0	0	0	1	0	0	0	3466	536	19	1	188	1	CLCA4	1	87025637	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	24542070	87025637	162224984	3	7273											
KIAA0907	22889	genome.wustl.edu	37	chr1	155893472	155893472	+	Frame_Shift_Del	DEL	G	G	-																															gcagccaggccttctggtttGgggtgactgcaaagaaataa																										TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:155893472delG	ENST00000368321.3	-	8	923	c.900delC	c.(898-900)cccfs	p.P300fs	SCARNA4_ENST00000516999.1_RNA|KIAA0907_ENST00000368319.3_Frame_Shift_Del_p.P300fs|KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.P300fs|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	300							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTCTGGTTTGGGGTGACTGC	0.373																																																	0													77	79	79					1																	155893472		2203	4300	6503	SO:0001589	frameshift_variant	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.900delC	1.37:g.155893472delG	ENSP00000357304:p.Pro300fs		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	NULL	p.K301fs	ENST00000368321.3	37	c.900	CCDS30885.1	1																																																																																			KIAA0907	-	NULL	ENSG00000132680		0.373	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1		0	22	0	G	NM_014949		155893472	-1	tier1		no_errors	ENST00000368321	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-	-	155893472	G	-	155893472	7	5	30	1	0	1	0	1	0	0	0	0	8226	1335	47	0	972	0	KIAA0907	1	155893472	Frame_Shift_Del	DEL	G	TCGA-IG-A7DP-01A-31D-A33E-09	68867835	155893472	93357149	4	7274											
GPR52	9293	genome.wustl.edu	37	chr1	174417596	174417596	+	Frame_Shift_Del	DEL	T	T	-																															cgagtcattgacttgccaggTttttggatatatcatctcag																										TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:174417596delT	ENST00000367685.2	+	1	385	c.347delT	c.(346-348)gttfs	p.V116fs	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	116					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTTGCCAGGTTTTTGGATAT	0.433																																					Ovarian(92;924 1390 1930 16467 40583)												0													217	216	216					1																	174417596		2203	4300	6503	SO:0001589	frameshift_variant	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.347delT	1.37:g.174417596delT	ENSP00000356658:p.Val116fs		O75654|Q4VBL6|Q6ISM0	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F117fs	ENST00000367685.2	37	c.347	CCDS30941.1	1																																																																																			GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000203737		0.433	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1		0	52	0	T	NM_005684		174417596	1	tier1		no_errors	ENST00000367685	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-	-	174417596	T	-	174417596	7	5	30	1	0	1	0	1	0	0	0	0	6724	1725	60	0	349	0	GPR52	1	174417596	Frame_Shift_Del	DEL	T	TCGA-IG-A7DP-01A-31D-A33E-09	18524124	174417596	74833025	5	7275											
C1orf25	81627	genome.wustl.edu	37	chr1	185114695	185114695	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatgggctcccattttactGgttatctatcaaacagagta	12	14	7	8	0	2	1	1	0	1	1	3	1	3	1	1	2	2	3	1	2	6	6			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:185114695G>T	ENST00000367506.5	-	5	799	c.531C>A	c.(529-531)acC>acA	p.T177T	TRMT1L_ENST00000367504.3_Silent_p.T21T	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	177					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCATTTTACTGGTTATCTATC	0.328																																																	0													124	117	119					1																	185114695		2202	4298	6500	SO:0001819	synonymous_variant	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.531C>A	1.37:g.185114695G>T			Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Silent	SNP	pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T177	ENST00000367506.5	37	c.531	CCDS1366.1	1																																																																																			TRMT1L	-	NULL	ENSG00000121486		0.328	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1L	HGNC	protein_coding	OTTHUMT00000085787.1	-	0	46	0	G	NM_030934		185114695	-1	tier1	-	no_errors	ENST00000367506	ensembl	human	known	74_37	silent	7.84	45	4	SNP	1.000	T	T	185114695	G	T	185114695	2	4	30	1	0	0	0	0	0	0	0	1	2041	1335	47	3		3	C1orf25	1	185114695	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	10697099	185114695	64135926	6	7276											
RASSF5	83593	genome.wustl.edu	37	chr1	206758622	206758622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagaatgaaactggagagGtagaggtaggtctggaccca	14	6	16	5	0	1	4	0	1	1	3	1	7	1	5	1	6	1	2	1	6	4	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:206758622G>T	ENST00000355294.4	+	5	1156	c.1099G>T	c.(1099-1101)Gta>Tta	p.V367L	RASSF5_ENST00000304534.8_Missense_Mutation_p.V214L|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_Intron|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	367	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AACTGGAGAGGTAGAGGTAGG	0.577																																					GBM(162;656 1984 11916 22872 31529)												0													133	132	132					1																	206758622		2203	4300	6503	SO:0001583	missense	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1099G>T	1.37:g.206758622G>T	ENSP00000347443:p.Val367Leu		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V367L	ENST00000355294.4	37	c.1099	CCDS30998.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.605198	0.96626	.	.	ENSG00000136653	ENST00000355294;ENST00000338603;ENST00000367118;ENST00000304534	T;T;T	0.21361	2.63;2.01;2.39	6.02	6.02	0.97574	SARAH (1);	0.112100	0.64402	D	0.000010	T	0.49150	0.1540	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.974	P;D;P	0.80764	0.841;0.994;0.757	T	0.40001	-0.9586	10	0.72032	D	0.01	-5.7032	19.5289	0.95219	0.0:0.0:1.0:0.0	.	365;214;367	E9PDW5;Q8WWW0-2;Q8WWW0	.;.;RASF5_HUMAN	L	367;367;367;214	ENSP00000347443:V367L;ENSP00000342620:V367L;ENSP00000306091:V214L	ENSP00000306091:V214L	V	+	1	0	RASSF5	204825245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GTA	RASSF5	-	pfscan_SARAH_dom	ENSG00000136653		0.577	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1	-	0	36	0	G	NM_031437		206758622	1	tier1	-	no_errors	ENST00000355294	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	206758622	G	T	206758622	3	4	30	1	0	0	0	0	1	0	0	0	13134	1261	44	3	1241	3	RASSF5	1	206758622	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	21643927	206758622	42491999	7	7277											
DISP1	84976	genome.wustl.edu	37	chr1	223176007	223176007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatgtaccaagtacaatgCtgtgtaccagatcctccatt	13	11	6	11	0	0	1	0	0	0	1	2	1	2	1	4	0	4	4	4	0	6	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr1:223176007C>T	ENST00000284476.6	+	8	1432	c.1268C>T	c.(1267-1269)gCt>gTt	p.A423V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	423					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAGTACAATGCTGTGTACCAG	0.498																																																	0													81	74	77					1																	223176007		2203	4300	6503	SO:0001583	missense	0			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1268C>T	1.37:g.223176007C>T	ENSP00000284476:p.Ala423Val		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.A423V	ENST00000284476.6	37	c.1268	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250416	0.80024	.	.	ENSG00000154309	ENST00000284476	D	0.85629	-2.01	5.05	5.05	0.67936	.	0.047098	0.85682	D	0.000000	D	0.90246	0.6950	L	0.53249	1.67	0.80722	D	1	D	0.55605	0.972	D	0.64687	0.928	D	0.90316	0.4341	10	0.54805	T	0.06	-34.9022	18.5942	0.91225	0.0:1.0:0.0:0.0	.	423	Q96F81	DISP1_HUMAN	V	423	ENSP00000284476:A423V	ENSP00000284476:A423V	A	+	2	0	DISP1	221242630	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.320000	0.79064	2.633000	0.89246	0.591000	0.81541	GCT	DISP1	-	NULL	ENSG00000154309		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	-	0	48	0	C	NM_032890		223176007	1	tier1	-	no_errors	ENST00000284476	ensembl	human	novel	74_37	missense	7.27	51	4	SNP	1.000	T	T	223176007	C	T	223176007	3	4	30	1	0	0	0	0	1	0	0	0	4553	797	28	3	1294	3	DISP1	1	223176007	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	16417385	223176007	26074614	8	7278											
GPR113	165082	genome.wustl.edu	37	chr2	26569062	26569062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtcacagccttgtagccgGgagtcgctgccgagtgggcg	5	8	17	11	4	1	0	1	0	0	0	2	2	1	1	3	2	3	2	3	2	1	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:26569062G>T	ENST00000333478.6	-	1	623	c.41C>A	c.(40-42)cCc>cAc	p.P14H	GPR113_ENST00000541401.1_5'UTR|GPR113_ENST00000459892.1_5'Flank|EPT1_ENST00000462301.1_3'UTR|EPT1_ENST00000260585.7_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	351					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGTAGCCGGGAGTCGCTGC	0.627																																																	0													45	52	50					2																	26569062		2149	4241	6390	SO:0001583	missense	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000333478.6:c.41C>A	2.37:g.26569062G>T	ENSP00000327396:p.Pro14His		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.P14H	ENST00000333478.6	37	c.41	CCDS33159.2	2	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549691	0.27652	.	.	ENSG00000173567	ENST00000333478;ENST00000433584	T	0.31247	1.5	5.82	3.44	0.39384	.	.	.	.	.	T	0.33089	0.0851	.	.	.	0.22034	N	0.999404	P	0.47409	0.895	P	0.47162	0.54	T	0.14559	-1.0468	8	0.87932	D	0	.	7.4624	0.27302	0.752:0.0:0.248:0.0	.	14	Q8IZF5-2	.	H	14	ENSP00000327396:P14H	ENSP00000327396:P14H	P	-	2	0	GPR113	26422566	0.003000	0.15002	0.973000	0.42090	0.416000	0.31233	0.310000	0.19356	1.042000	0.40150	-0.320000	0.08662	CCC	GPR113	-	NULL	ENSG00000173567		0.627	GPR113-009	KNOWN	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000317218.1	-	0	55	0	G	NM_153835		26569062	-1	tier1	-	no_errors	ENST00000333478	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.042	T	T	26569062	G	T	26569062	3	4	30	1	0	0	0	0	1	0	0	0	6656	1232	43	3	3457	3	GPR113	2	26569062	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		26569062	216630311	9	7279											
SULT1C2	6819	genome.wustl.edu	37	chr2	108910750	108910750	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacgtggagaagtgccagCgagccatcatccaacaccgc	11	4	13	13	3	1	1	1	0	0	1	2	4	2	2	4	2	4	0	4	2	2	0			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:108910750C>T	ENST00000437390.2	+	3	394	c.217C>T	c.(217-219)Cga>Tga	p.R73*	SULT1C2_ENST00000409880.1_Nonsense_Mutation_p.R73*|SULT1C2_ENST00000251481.6_Nonsense_Mutation_p.R73*|SULT1C2_ENST00000326853.5_Nonsense_Mutation_p.R73*			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	79					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGTGCCAGCGAGCCATCAT	0.512																																																	0													179	167	171					2																	108910750		2203	4300	6503	SO:0001587	stop_gained	0			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.217C>T	2.37:g.108910750C>T	ENSP00000399651:p.Arg73*		Q069I8|Q08AS5|Q53S63	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R73*	ENST00000437390.2	37	c.217		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.239822|4.239822	0.79912|0.79912	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000409067|ENST00000251481;ENST00000326853;ENST00000438339;ENST00000409880;ENST00000437390	.|.	.|.	.|.	4.97|4.97	4.08|4.08	0.47627|0.47627	.|.	.|0.098704	.|0.41712	.|D	.|0.000823	T|.	0.26412|.	0.0645|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.29549|.	-1.0008|.	3|.	.|0.02654	.|T	.|1	.|.	11.5719|11.5719	0.50839|0.50839	0.3238:0.6762:0.0:0.0|0.3238:0.6762:0.0:0.0	.|.	.|.	.|.	.|.	V|X	69|73	.|.	.|ENSP00000251481:R73X	A|R	+|+	2|1	0|2	SULT1C2|SULT1C2	108277182|108277182	0.934000|0.934000	0.31675|0.31675	0.792000|0.792000	0.32020|0.32020	0.998000|0.998000	0.95712|0.95712	0.880000|0.880000	0.28159|0.28159	1.287000|1.287000	0.44583|0.44583	0.655000|0.655000	0.94253|0.94253	GCG|CGA	SULT1C2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000198203		0.512	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	HGNC	protein_coding	OTTHUMT00000329969.2	-	0	53	0	C	NM_176825		108910750	1	tier1	-	no_errors	ENST00000326853	ensembl	human	known	74_37	nonsense	9.76	37	4	SNP	0.802	T	T	108910750	C	T	108910750	4	4	30	1	0	0	0	0	0	1	0	0	15424	760	27	1	223	1	SULT1C2	2	108910750	Nonsense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	82341688	108910750	134288623	10	7280											
TUBA3D	113457	genome.wustl.edu	37	chr2	132240337	132240337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttctctgaggcccgcgaGgacctggcagctctagagaa	9	7	14	11	2	2	2	0	1	2	1	3	6	2	3	2	3	1	3	2	3	2	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:132240337G>T	ENST00000321253.6	+	5	1376	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	423					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGGCCCGCGAGGACCTGGCAG	0.572																																					Ovarian(137;2059 2432 35543 39401)												0													146	150	149					2																	132240337		2203	4300	6503	SO:0001583	missense	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1269G>T	2.37:g.132240337G>T	ENSP00000326042:p.Glu423Asp		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.E423D	ENST00000321253.6	37	c.1269	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	g	5.618	0.298689	0.10622	.	.	ENSG00000075886	ENST00000321253	D	0.85556	-2.0	2.41	1.5	0.22942	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.46442	U	0.000298	D	0.82444	0.5038	M	0.65498	2.005	0.40862	D	0.983849	B	0.06786	0.001	B	0.30646	0.118	T	0.77122	-0.2704	10	0.87932	D	0	.	6.8794	0.24164	0.1556:0.0:0.8444:0.0	.	423	Q13748	TBA3C_HUMAN	D	423	ENSP00000326042:E423D	ENSP00000326042:E423D	E	+	3	2	TUBA3D	131956807	1.000000	0.71417	0.997000	0.53966	0.214000	0.24535	0.862000	0.27899	0.332000	0.23536	0.194000	0.17425	GAG	TUBA3D	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin	ENSG00000075886		0.572	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2		0	78	0	G	NM_080386		132240337	1			no_errors	ENST00000321253	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	132240337	G	T	132240337	3	4	30	1	0	0	0	0	1	0	0	0	16796	991	35	3	1287	3	TUBA3D	2	132240337	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	23329587	132240337	110959036	11	7281											
INO80D	54891	genome.wustl.edu	37	chr2	206921212	206921212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgcagactgaaccctgcGgtggcgctggaggttttaaa	9	10	13	9	2	0	2	0	1	0	1	0	3	0	3	1	4	3	3	1	4	3	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:206921212G>A	ENST00000403263.1	-	4	1078	c.674C>T	c.(673-675)cCg>cTg	p.P225L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	225					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAACCCTGCGGTGGCGCTGG	0.562																																																	0													70	76	74					2																	206921212		2095	4230	6325	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.674C>T	2.37:g.206921212G>A	ENSP00000384198:p.Pro225Leu		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.P225L	ENST00000403263.1	37	c.674	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125753	0.56721	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.32272	1.49;1.46	5.84	2.02	0.26589	.	0.433239	0.27841	N	0.017621	T	0.16811	0.0404	N	0.14661	0.345	0.58432	D	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.05257	-1.0896	10	0.72032	D	0.01	.	7.902	0.29740	0.1936:0.1167:0.6897:0.0	.	225	Q53TQ3-2	.	L	225;225;120	ENSP00000384198:P225L;ENSP00000402369:P120L	ENSP00000233270:P225L	P	-	2	0	INO80D	206629457	1.000000	0.71417	0.996000	0.52242	0.884000	0.51177	2.524000	0.45589	0.095000	0.17434	0.655000	0.94253	CCG	INO80D	-	NULL	ENSG00000114933		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0	26	0	G	NM_017759		206921212	-1			no_errors	ENST00000403263	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	206921212	G	A	206921212	3	1	30	1	0	0	0	0	1	0	0	0	7776	1116	39	1	2441	1	INO80D	2	206921212	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	74680875	206921212	36278161	12	7282											
FAM124B	79843	genome.wustl.edu	37	chr2	225266459	225266459	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaagatggacagtcatGgccagaggcccctgtgtctc	10	7	13	11	0	2	3	1	0	1	3	3	4	2	4	3	3	0	1	3	3	2	0			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:225266459G>T	ENST00000409685.3	-	1	292	c.27C>A	c.(25-27)gcC>gcA	p.A9A	FAM124B_ENST00000243806.2_Silent_p.A9A|FAM124B_ENST00000389874.3_Silent_p.A9A	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	9										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GGACAGTCATGGCCAGAGGCC	0.547																																																	0													33	37	36					2																	225266459		2200	4300	6500	SO:0001819	synonymous_variant	0			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.27C>A	2.37:g.225266459G>T			A6NNC7|Q8NBZ4|Q8TAV7	Silent	SNP	NULL	p.A9	ENST00000409685.3	37	c.27	CCDS46527.1	2																																																																																			FAM124B	-	NULL	ENSG00000124019		0.547	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1		0	26	0	G	NM_024785		225266459	-1			no_errors	ENST00000409685	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.040	T	T	225266459	G	T	225266459	2	4	30	1	0	0	0	0	0	0	0	1	5445	1335	47	3		3	FAM124B	2	225266459	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	18345247	225266459	17932914	13	7283											
HJURP	55355	genome.wustl.edu	37	chr2	234749814	234749814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgtgaaggtcagatgtctGctgcgggcgagttgcgctgt	7	10	16	8	4	2	2	1	1	1	1	2	3	2	2	0	2	4	3	0	2	2	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr2:234749814G>A	ENST00000411486.2	-	8	1677	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*	HJURP_ENST00000432087.1_Nonsense_Mutation_p.Q484*|HJURP_ENST00000441687.1_Nonsense_Mutation_p.Q453*|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	538					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCAGATGTCTGCTGCGGGCGA	0.493																																																	0													133	137	136					2																	234749814		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1612C>T	2.37:g.234749814G>A	ENSP00000414109:p.Gln538*		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Nonsense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.Q538*	ENST00000411486.2	37	c.1612	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429787	0.83776	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	.	.	.	3.87	3.0	0.34707	.	1.264420	0.05494	N	0.557304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	1.768	7.4844	0.27423	0.1158:0.0:0.8842:0.0	.	.	.	.	X	538;484;453;453	.	ENSP00000414109:Q538X	Q	-	1	0	HJURP	234414553	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.806000	0.27126	1.226000	0.43582	-0.136000	0.14681	CAG	HJURP	-	NULL	ENSG00000123485		0.493	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6		0	40	0	G	NM_018410		234749814	-1			no_errors	ENST00000411486	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.001	A	A	234749814	G	A	234749814	4	1	30	1	0	0	0	0	0	1	0	0	7216	1328	46	3	642	3	HJURP	2	234749814	Nonsense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	9483355	234749814	8449559	14	7284											
SEMA3G	56920	genome.wustl.edu	37	chr3	52474957	52474957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggccctcacctagctgGtcaaagtgggtctcggcacc	7	7	12	15	1	3	0	2	0	1	0	4	0	3	0	4	4	1	2	4	4	2	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:52474957G>T	ENST00000231721.2	-	8	920	c.921C>A	c.(919-921)gaC>gaA	p.D307E		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	307	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACCTAGCTGGTCAAAGTGGG	0.652																																																	0													31	32	31					3																	52474957		2203	4300	6503	SO:0001583	missense	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.921C>A	3.37:g.52474957G>T	ENSP00000231721:p.Asp307Glu		Q7L9D9|Q9H7Q3	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D307E	ENST00000231721.2	37	c.921	CCDS2856.1	3	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768625	0.69878	.	.	ENSG00000010319	ENST00000231721	T	0.11821	2.74	4.34	3.47	0.39725	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.111882	0.64402	D	0.000010	T	0.25457	0.0619	M	0.74546	2.27	0.36196	D	0.850375	P	0.37083	0.581	P	0.50791	0.65	T	0.15521	-1.0434	10	0.51188	T	0.08	.	5.1127	0.14817	0.3684:0.0:0.6316:0.0	.	307	Q9NS98	SEM3G_HUMAN	E	307	ENSP00000231721:D307E	ENSP00000231721:D307E	D	-	3	2	SEMA3G	52449997	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	0.941000	0.29005	1.075000	0.40932	0.561000	0.74099	GAC	SEMA3G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000010319		0.652	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1		0	22	0	G	NM_020163		52474957	-1			no_errors	ENST00000231721	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	52474957	G	T	52474957	3	4	30	1	0	0	0	0	1	0	0	0	14075	1252	44	3	1463	3	SEMA3G	3	52474957	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		52474957	145547473	15	7285											
ITIH3	3699	genome.wustl.edu	37	chr3	52831209	52831209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagctaacctacgaggagCtgctgaagaggcacaagggc	12	5	14	10	2	0	2	0	1	0	1	1	5	0	3	1	3	5	4	1	3	4	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:52831209C>T	ENST00000449956.2	+	5	481	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	ITIH3_ENST00000416872.2_Silent_p.L159L	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	159					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTACGAGGAGCTGCTGAAGAG	0.557																																																	0													46	53	50					3																	52831209		2108	4223	6331	SO:0001819	synonymous_variant	0				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"pre-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha-trypsin inhibitor heavy chain H3"	146650	"inter-alpha (globulin) inhibitor, H3 polypeptide", "inter-alpha (globulin) inhibitor H3"			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.475C>T	3.37:g.52831209C>T			Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L159	ENST00000449956.2	37	c.475	CCDS46845.1	3																																																																																			ITIH3	-	NULL	ENSG00000162267		0.557	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2		0	28	0	C	NM_002217		52831209	1			no_errors	ENST00000449956	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	52831209	C	T	52831209	2	4	30	1	0	0	0	0	0	0	0	1	7932	796	28	3		3	ITIH3	3	52831209	Silent	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	356252	52831209	145191221	16	7286											
RPN1	6184	genome.wustl.edu	37	chr3	128345612	128345612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatcttcacagtcagaGaatctatcacttgttcatca	12	13	7	9	0	7	2	5	1	2	1	7	4	7	3	0	1	0	1	0	1	2	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:128345612G>T	ENST00000296255.3	-	6	1148	c.1100C>A	c.(1099-1101)tCt>tAt	p.S367Y	RPN1_ENST00000497289.1_Missense_Mutation_p.S195Y|RPN1_ENST00000490166.1_5'UTR	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	367					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		CACAGTCAGAGAATCTATCAC	0.458			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													236	180	199					3																	128345612		2203	4300	6503	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1100C>A	3.37:g.128345612G>T	ENSP00000296255:p.Ser367Tyr		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.S367Y	ENST00000296255.3	37	c.1100	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339264	0.60963	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.28	5.28	0.74379	.	0.427305	0.28671	N	0.014535	T	0.74183	0.3683	M	0.66939	2.045	0.40361	D	0.979247	B	0.31153	0.31	B	0.41917	0.37	T	0.76454	-0.2953	9	0.72032	D	0.01	-12.4209	18.9114	0.92487	0.0:0.0:1.0:0.0	.	367	P04843	RPN1_HUMAN	Y	367;195;138;341	.	ENSP00000296255:S367Y	S	-	2	0	RPN1	129828302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.370000	0.59517	2.448000	0.82819	0.591000	0.81541	TCT	RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.458	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	-	0	63	0	G	NM_002950		128345612	-1	tier1	-	no_errors	ENST00000296255	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	128345612	G	T	128345612	3	4	30	1	0	0	0	0	1	0	0	0	13652	942	33	3	743	3	RPN1	3	128345612	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	75514403	128345612	69676818	17	7287											
TOPBP1	11073	genome.wustl.edu	37	chr3	133347292	133347292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacacataccactactttGtgaagtggctttggggcttc	9	13	9	10	0	0	1	0	1	0	0	1	1	0	1	1	3	3	2	1	3	4	6			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:133347292G>T	ENST00000260810.5	-	16	2849	c.2718C>A	c.(2716-2718)caC>caA	p.H906Q		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	906	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CCACTACTTTGTGAAGTGGCT	0.378								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													103	95	98					3																	133347292		1859	4100	5959	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2718C>A	3.37:g.133347292G>T	ENSP00000260810:p.His906Gln		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.H906Q	ENST00000260810.5	37	c.2718	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	3.414	-0.119572	0.06838	.	.	ENSG00000163781	ENST00000260810	T	0.79454	-1.27	5.31	1.41	0.22369	BRCT (3);	1.376430	0.03964	N	0.290510	T	0.65984	0.2744	L	0.27053	0.805	0.09310	N	1	B	0.22746	0.074	B	0.28011	0.085	T	0.48625	-0.9019	10	0.12766	T	0.61	.	6.7629	0.23550	0.1964:0.3862:0.4174:0.0	.	906	Q92547	TOPB1_HUMAN	Q	906	ENSP00000260810:H906Q	ENSP00000260810:H906Q	H	-	3	2	TOPBP1	134829982	0.029000	0.19370	0.560000	0.28344	0.831000	0.47069	0.905000	0.28504	0.300000	0.22699	-0.182000	0.12963	CAC	TOPBP1	-	pfam_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.378	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1		0	66	0	G	NM_007027		133347292	-1			no_errors	ENST00000260810	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T	T	133347292	G	T	133347292	3	4	30	1	0	0	0	0	1	0	0	0	16417	1368	48	3	1902	3	TOPBP1	3	133347292	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	5001680	133347292	64675138	18	7288											
PIK3CA	5290	genome.wustl.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	15	10	6	0	0	0	0	0	0	0	1	2	1	2	1	4	1	2	1	4	3	5	rs121913272		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	40	Substitution - Missense(40)	breast(15)|large_intestine(10)|endometrium(7)|central_nervous_system(2)|lung(2)|prostate(2)|stomach(1)|NS(1)											85	80	82					3																	178927980		1822	4078	5900	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1258T>C	3.37:g.178927980T>C	ENSP00000263967:p.Cys420Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.C420R	ENST00000263967.3	37	c.1258	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925687	0.73213	.	.	ENSG00000121879	ENST00000263967	T	0.68903	-0.36	5.51	5.51	0.81932	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.74284	-0.3715	10	0.25751	T	0.34	-11.2314	15.6207	0.76805	0.0:0.0:0.0:1.0	.	420	P42336	PK3CA_HUMAN	R	420	ENSP00000263967:C420R	ENSP00000263967:C420R	C	+	1	0	PIK3CA	180410674	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.698000	0.84413	2.105000	0.64084	0.460000	0.39030	TGT	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0	14	0	T			178927980	1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C	C	178927980	T	C	178927980	3	2	30	1	0	0	0	0	1	0	0	0	11952	1580	55	4	1284	4	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-IG-A7DP-01A-31D-A33E-09	45580688	178927980	19094450	19	7289											
YEATS2	55689	genome.wustl.edu	37	chr3	183493744	183493746	+	In_Frame_Del	DEL	GGA	GGA	-																															ccagtggtgggagtggtgccGgaggaggaggaggaggagga																								rs146705467|rs560342307|rs559825021	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:183493744_183493746delGGA	ENST00000305135.5	+	18	2605_2607	c.2410_2412delGGA	c.(2410-2412)ggadel	p.G814del		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	814	Gly-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGTGGTGCCggaggaggaggag	0.542																																																	0																																										SO:0001651	inframe_deletion	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2410_2412delGGA	3.37:g.183493753_183493755delGGA	ENSP00000306983:p.Gly814del		A7E2B9|D3DNS9|Q641P6|Q9NW96	In_Frame_Del	DEL	pfam_YEATS,pfscan_YEATS	p.G807in_frame_del	ENST00000305135.5	37	c.2410_2412	CCDS43175.1	3																																																																																			YEATS2	-	NULL	ENSG00000163872		0.542	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2		0	20	0	GGA	NM_018023		183493746	1	tier1		no_errors	ENST00000305135	ensembl	human	known	74_37	in_frame_del	11.54	23	3	DEL	0.095:0.259:0.259	-	-	183493746	GGA	-	183493744	7	5	30	1	0	1	0	1	0	0	0	0	17521	1117	39	0	2476	0	YEATS2	3	183493744	In_Frame_Del	DEL	GGA	TCGA-IG-A7DP-01A-31D-A33E-09	4565764	183493744	14528686	20	7290											
IL1RAP	3556	genome.wustl.edu	37	chr3	190366259	190366259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagaaaatatggcctctcGgggcaacatcaacgtcattt	12	10	8	11	2	3	1	2	0	1	1	4	1	3	1	2	3	2	1	2	3	6	3	rs148316157		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:190366259G>T	ENST00000412504.2	+	11	1730	c.1478G>T	c.(1477-1479)cGg>cTg	p.R493L	IL1RAP_ENST00000447382.1_Missense_Mutation_p.R493L|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R493L|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R493L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	493	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)	p.R493L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGGCCTCTCGGGGCAACATC	0.512																																																	1	Substitution - Missense(1)	lung(1)						G	LEU/ARG,LEU/ARG,,LEU/ARG	0,4406		0,0,2203	93	95	95		1478,1478,,1478	2.9	1	3	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense	IL1RAP	NM_001167928.1,NM_001167929.1,NM_001167931.1,NM_002182.3	102,102,,102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,,benign	493/571,493/571,,493/571	190366259	1,13005	2203	4300	6503	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.1478G>T	3.37:g.190366259G>T	ENSP00000412053:p.Arg493Leu		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ	p.R493L	ENST00000412504.2	37	c.1478	CCDS3298.1	3	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847699	0.32606	0.0	1.16E-4	ENSG00000196083	ENST00000072516;ENST00000412504;ENST00000439062;ENST00000447382	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	5.64	2.9	0.33743	Toll/interleukin-1 receptor homology (TIR) domain (4);	1.590950	0.03399	N	0.203003	T	0.06234	0.0161	N	0.05124	-0.11	0.23120	N	0.998266	B	0.06786	0.001	B	0.18561	0.022	T	0.43426	-0.9392	10	0.39692	T	0.17	.	9.9844	0.41832	0.3668:0.0:0.6332:0.0	.	493	Q9NPH3	IL1AP_HUMAN	L	493	ENSP00000072516:R493L;ENSP00000412053:R493L;ENSP00000401132:R493L;ENSP00000390541:R493L	ENSP00000072516:R493L	R	+	2	0	IL1RAP	191848953	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.009000	0.29886	0.085000	0.17107	-1.151000	0.01829	CGG	IL1RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000196083		0.512	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343497.1		0	36	0	G			190366259	1			no_errors	ENST00000072516	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	190366259	G	T	190366259	3	4	30	1	0	0	0	0	1	0	0	0	7687	1116	39	2	1536	2	IL1RAP	3	190366259	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	6872515	190366259	7656171	21	7291											
BDH1	622	genome.wustl.edu	37	chr3	197241153	197241153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctttggcccttcggatgaGggggagaaaggatttcgtca	9	10	14	8	2	1	2	1	1	0	1	3	5	1	4	2	5	0	0	2	5	1	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr3:197241153G>T	ENST00000392378.2	-	6	854	c.544C>A	c.(544-546)Ctc>Atc	p.L182I	BDH1_ENST00000358186.2_Missense_Mutation_p.L182I|BDH1_ENST00000392379.1_Missense_Mutation_p.L182I|BDH1_ENST00000441275.1_Missense_Mutation_p.L95I	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	182					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		CTTCGGATGAGGGGGAGAAAG	0.567																																																	0													120	92	101					3																	197241153		2203	4300	6503	SO:0001583	missense	0			M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	1027	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 9C, member 1"	603063	"3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.544C>A	3.37:g.197241153G>T	ENSP00000376183:p.Leu182Ile		D3DXC0|Q96ET1|Q9BRZ4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L182I	ENST00000392378.2	37	c.544	CCDS3328.1	3	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117390	0.56505	.	.	ENSG00000161267	ENST00000392378;ENST00000358186;ENST00000392379;ENST00000441275;ENST00000446746;ENST00000434143;ENST00000432819	D;D;D;D;D;T;T	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;0.4;0.4	5.02	4.15	0.48705	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	M	0.65498	2.005	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.95474	0.8554	10	0.72032	D	0.01	.	11.6534	0.51304	0.0878:0.0:0.9122:0.0	.	182	Q02338	BDH_HUMAN	I	182;182;182;95;95;163;182	ENSP00000376183:L182I;ENSP00000350914:L182I;ENSP00000376184:L182I;ENSP00000411014:L95I;ENSP00000387648:L95I;ENSP00000408685:L163I;ENSP00000409849:L182I	ENSP00000350914:L182I	L	-	1	0	BDH1	198725550	1.000000	0.71417	0.934000	0.37439	0.561000	0.35649	4.409000	0.59768	1.258000	0.44101	0.555000	0.69702	CTC	BDH1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	ENSG00000161267		0.567	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH1	HGNC	protein_coding	OTTHUMT00000340267.1	-	0	39	0	G	NM_004051		197241153	-1	tier1	-	no_errors	ENST00000358186	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.955	T	T	197241153	G	T	197241153	3	4	30	1	0	0	0	0	1	0	0	0	1391	1000	35	3	495	3	BDH1	3	197241153	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	6874894	197241153	781277	22	7292											
PDE6B	5158	genome.wustl.edu	37	chr4	619586	619586	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggtggaggagagcacGgcgctgctggagctggtgca	7	6	19	9	2	0	1	0	0	0	1	0	4	0	3	1	6	5	5	1	6	0	0			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:619586G>T	ENST00000496514.1	+	1	192	c.171G>T	c.(169-171)acG>acT	p.T57T	PDE6B_ENST00000255622.6_Silent_p.T57T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	57					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AGGAGAGCACGGCGCTGCTGG	0.672																																					GBM(71;463 1194 9848 25922 46834)												0													33	34	34					4																	619586		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"Phosphodiesterases"	8786	protein-coding gene	gene with protein product	"congenital stationary night blindness 3, autosomal dominant"	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.171G>T	4.37:g.619586G>T			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.T57	ENST00000496514.1	37	c.171	CCDS33932.1	4																																																																																			PDE6B	-	NULL	ENSG00000133256		0.672	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	-	0	43	0	G	NM_000283		619586	1	tier1	-	no_errors	ENST00000496514	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.005	T	T	619586	G	T	619586	2	4	30	1	0	0	0	0	0	0	0	1	11685	1103	39	2		2	PDE6B	4	619586	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		619586	190534690	23	7293											
C4orf44	345222	genome.wustl.edu	37	chr4	3251103	3251103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggacggacgccgagatgCgcggcctcatgctggtctgg	6	7	16	12	5	2	1	1	0	1	1	2	4	2	3	2	5	2	1	2	5	0	0			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:3251103C>T	ENST00000438480.2	+	1	1901	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	MSANTD1_ENST00000510580.1_Missense_Mutation_p.R52C|MSANTD1_ENST00000507492.1_Missense_Mutation_p.R39C	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	52	Myb-like.									endometrium(1)|lung(2)	3						CGCCGAGATGCGCGGCCTCAT	0.672																																																	0													23	24	24					4																	3251103		2173	4285	6458	SO:0001583	missense	0				CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 44"	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.154C>T	4.37:g.3251103C>T	ENSP00000411584:p.Arg52Cys		C9J6V0	Missense_Mutation	SNP	NULL	p.R52C	ENST00000438480.2	37	c.154	CCDS47003.1	4	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306486	0.81247	.	.	ENSG00000188981	ENST00000507492;ENST00000438480;ENST00000510580	T;T;T	0.48522	0.81;0.81;0.81	4.68	3.73	0.42828	.	0.066175	0.56097	D	0.000024	T	0.50240	0.1604	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.50759	-0.8790	10	0.46703	T	0.11	.	11.35	0.49583	0.2575:0.7425:0.0:0.0	.	52;52	D6RD98;Q6ZTZ1	.;CD044_HUMAN	C	39;52;52	ENSP00000423547:R39C;ENSP00000411584:R52C;ENSP00000420966:R52C	ENSP00000411584:R52C	R	+	1	0	C4orf44	3220901	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.096000	0.64535	2.140000	0.66376	0.591000	0.81541	CGC	MSANTD1	-	NULL	ENSG00000188981		0.672	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD1	HGNC	protein_coding	OTTHUMT00000370924.1		0	35	0	C	NM_001012982		3251103	1			no_errors	ENST00000438480	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	3251103	C	T	3251103	3	4	30	1	0	0	0	0	1	0	0	0	2279	768	27	1	156	1	C4orf44	4	3251103	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	2631517	3251103	187903173	24	7294											
NCAPG	64151	genome.wustl.edu	37	chr4	17819058	17819058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaactggtgggactctGtaaaaacaatgatggcaggt	13	9	13	6	0	1	2	0	2	1	0	1	3	1	3	0	4	2	2	0	4	5	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:17819058G>T	ENST00000251496.2	+	6	1126	c.950G>T	c.(949-951)tGt>tTt	p.C317F		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	317					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GTGGGACTCTGTAAAAACAAT	0.373																																																	0													90	90	90					4																	17819058		2203	4300	6503	SO:0001583	missense	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.950G>T	4.37:g.17819058G>T	ENSP00000251496:p.Cys317Phe		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C317F	ENST00000251496.2	37	c.950	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	G	2.187	-0.386139	0.04966	.	.	ENSG00000109805	ENST00000251496	T	0.30182	1.54	5.74	4.84	0.62591	Armadillo-type fold (1);	0.246337	0.51477	D	0.000097	T	0.20901	0.0503	L	0.31065	0.9	0.48040	D	0.99957	B	0.12013	0.005	B	0.06405	0.002	T	0.04347	-1.0958	10	0.08837	T	0.75	-11.1542	14.225	0.65853	0.0:0.0:0.7465:0.2535	.	317	Q9BPX3	CND3_HUMAN	F	317	ENSP00000251496:C317F	ENSP00000251496:C317F	C	+	2	0	NCAPG	17428156	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	2.659000	0.46741	2.708000	0.92522	0.650000	0.86243	TGT	NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.373	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	-	0	54	0	G	NM_022346		17819058	1	tier1	-	no_errors	ENST00000251496	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	17819058	G	T	17819058	3	4	30	1	0	0	0	0	1	0	0	0	10246	1377	48	3	972	3	NCAPG	4	17819058	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	14567955	17819058	173335218	25	7295											
GABRG1	2565	genome.wustl.edu	37	chr4	46060257	46060257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatgttcttgcaggcactGcatctttattgatccaaaaa	12	13	7	9	1	2	1	0	1	2	0	3	2	3	1	1	1	2	4	1	1	3	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:46060257G>A	ENST00000295452.4	-	7	1060	c.893C>T	c.(892-894)gCa>gTa	p.A298V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	298					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCAGGCACTGCATCTTTATT	0.358																																																	0													96	94	95					4																	46060257		2203	4300	6503	SO:0001583	missense	0			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4086	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma"	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.893C>T	4.37:g.46060257G>A	ENSP00000295452:p.Ala298Val		Q5H9T8	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A298V	ENST00000295452.4	37	c.893	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491873	0.84962	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.89196	-2.48	5.53	5.53	0.82687	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.051812	0.85682	D	0.000000	D	0.93294	0.7863	M	0.80616	2.505	0.58432	D	0.999999	P	0.50617	0.937	P	0.54026	0.74	D	0.93833	0.7129	10	0.87932	D	0	.	18.8699	0.92309	0.0:0.0:1.0:0.0	.	298	Q8N1C3	GBRG1_HUMAN	V	298	ENSP00000295452:A298V	ENSP00000295452:A298V	A	-	2	0	GABRG1	45755014	1.000000	0.71417	0.984000	0.44739	0.478000	0.33099	9.721000	0.98766	2.782000	0.95742	0.549000	0.68633	GCA	GABRG1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163285		0.358	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	HGNC	protein_coding	OTTHUMT00000250470.1	-	0	54	0	G	NM_173536		46060257	-1	tier1	-	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	A	A	46060257	G	A	46060257	3	1	30	1	0	0	0	0	1	0	0	0	6195	1319	46	3	516	3	GABRG1	4	46060257	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	28241199	46060257	145094019	26	7296											
BDH2	56898	genome.wustl.edu	37	chr4	104013836	104013836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctttgtgacatcaaGgacacgagtttgaatacctg	10	15	8	8	1	3	2	1	2	2	0	3	4	3	3	1	1	1	1	1	1	3	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:104013836G>T	ENST00000296424.4	-	4	289	c.169C>A	c.(169-171)Ctt>Att	p.L57I		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	57					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.L57F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		GTGACATCAAGGACACGAGTT	0.338																																																	1	Substitution - Missense(1)	urinary_tract(1)											76	77	76					4																	104013836		2203	4300	6503	SO:0001583	missense	0			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.169C>A	4.37:g.104013836G>T	ENSP00000296424:p.Leu57Ile		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.L57I	ENST00000296424.4	37	c.169	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	3.734	-0.054928	0.07362	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;D;D	0.87729	1.84;-2.29;-2.29	4.83	3.1	0.35709	NAD(P)-binding domain (1);	0.128387	0.48286	D	0.000183	D	0.86744	0.6006	L	0.39147	1.195	0.35498	D	0.79958	P	0.44734	0.842	P	0.56088	0.791	D	0.87575	0.2480	10	0.72032	D	0.01	.	7.1024	0.25344	0.3504:0.0:0.6496:0.0	.	57	Q9BUT1	BDH2_HUMAN	I	57	ENSP00000296424:L57I;ENSP00000427442:L57I;ENSP00000422891:L57I	ENSP00000296424:L57I	L	-	1	0	BDH2	104233285	0.999000	0.42202	0.183000	0.23137	0.366000	0.29705	2.221000	0.42917	0.575000	0.29434	-0.258000	0.10820	CTT	BDH2	-	pfam_DH_sc/Rdtase_SDR	ENSG00000164039		0.338	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2		0	28	0	G	NM_020139		104013836	-1			no_errors	ENST00000296424	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.948	T	T	104013836	G	T	104013836	3	4	30	1	0	0	0	0	1	0	0	0	1392	1000	35	3	596	3	BDH2	4	104013836	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	57953579	104013836	87140440	27	7297											
FBXW7	55294	genome.wustl.edu	37	chr4	153251886	153251886	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcagagttcagttacctTaggagatttgagttctcctc	8	15	10	8	0	2	3	1	1	1	2	4	4	2	3	2	1	2	4	2	1	2	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:153251886T>G	ENST00000281708.4	-	7	2349	c.1120A>C	c.(1120-1122)Aag>Cag	p.K374Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.K374Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.K374Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.K256Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.K198Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.K294Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	374					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCAGTTACCTTAGGAGATTTG	0.388			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											299	257	271					4																	153251886		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1120A>C	4.37:g.153251886T>G	ENSP00000281708:p.Lys374Gln		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K374Q	ENST00000281708.4	37	c.1120	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	T	16.86	3.238852	0.58995	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.041118	0.85682	D	0.000000	T	0.18467	0.0443	N	0.21373	0.66	0.80722	D	1	P;P;P;P	0.51933	0.851;0.949;0.82;0.72	B;P;B;B	0.47102	0.327;0.537;0.277;0.277	T	0.00907	-1.1519	10	0.52906	T	0.07	-24.2673	16.6277	0.84984	0.0:0.0:0.0:1.0	.	198;374;256;294	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	374;256;294;198	ENSP00000281708:K374Q;ENSP00000296555:K256Q;ENSP00000263981:K294Q;ENSP00000377528:K198Q	ENSP00000263981:K294Q	K	-	1	0	FBXW7	153471336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.330000	0.79161	0.528000	0.53228	AAG	FBXW7	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000109670		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0	38	0	T			153251886	-1			no_errors	ENST00000281708	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	G	G	153251886	T	G	153251886	3	3	30	1	0	0	0	0	1	0	0	0	5791	1763	61	4	1027	4	FBXW7	4	153251886	Missense_Mutation	SNP	T	TCGA-IG-A7DP-01A-31D-A33E-09	49238050	153251886	37902390	28	7298											
TLL1	7092	genome.wustl.edu	37	chr4	166915616	166915616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatcgagttcccagagccGctacatcaagaacggaaaga	17	5	9	10	3	1	3	1	0	0	3	3	5	2	4	2	1	3	2	2	1	6	2	rs537288580		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:166915616G>A	ENST00000061240.2	+	4	1092	c.445G>A	c.(445-447)Gct>Act	p.A149T	TLL1_ENST00000507499.1_Missense_Mutation_p.A149T|TLL1_ENST00000513213.1_Missense_Mutation_p.A149T	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	149	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A149T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCCCAGAGCCGCTACATCAAG	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											75	73	74					4																	166915616		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.445G>A	4.37:g.166915616G>A	ENSP00000061240:p.Ala149Thr		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.A149T	ENST00000061240.2	37	c.445	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350828	0.61183	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213;ENST00000506144	T;T;T;T	0.79749	0.23;0.13;0.12;-1.3	5.51	5.51	0.81932	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.83418	0.5250	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.987	T	0.83025	-0.0165	10	0.35671	T	0.21	.	19.4226	0.94727	0.0:0.0:1.0:0.0	.	149;149	E9PD25;O43897	.;TLL1_HUMAN	T	149;149;149;49	ENSP00000061240:A149T;ENSP00000426082:A149T;ENSP00000422937:A149T;ENSP00000423748:A49T	ENSP00000061240:A149T	A	+	1	0	TLL1	167135066	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	7.959000	0.87885	2.593000	0.87608	0.655000	0.94253	GCT	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.418	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1		0	44	0	G			166915616	1			no_errors	ENST00000061240	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A	A	166915616	G	A	166915616	3	1	30	1	0	0	0	0	1	0	0	0	15992	1087	38	1	459	1	TLL1	4	166915616	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	13663730	166915616	24238660	29	7299											
UFSP2	55325	genome.wustl.edu	37	chr4	186339751	186339751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatactcactgaataaagcGcagtatgttcttacaagcag	15	10	7	9	1	2	1	1	1	1	0	2	1	2	1	0	0	4	4	0	0	7	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr4:186339751G>A	ENST00000264689.6	-	3	372	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	Y_RNA_ENST00000384502.1_RNA|UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	86						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)	p.R86C(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGAATAAAGCGCAGTATGTTC	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											113	108	110					4																	186339751		2203	4300	6503	SO:0001583	missense	0			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.256C>T	4.37:g.186339751G>A	ENSP00000264689:p.Arg86Cys		Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.R86C	ENST00000264689.6	37	c.256	CCDS3842.1	4	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493780	0.26774	.	.	ENSG00000109775	ENST00000264689;ENST00000505357	T;T	0.48836	1.47;0.8	5.98	4.24	0.50183	.	0.266487	0.38959	N	0.001518	T	0.44117	0.1278	L	0.60455	1.87	0.47778	D	0.999513	D	0.67145	0.996	B	0.40565	0.333	T	0.49579	-0.8925	10	0.87932	D	0	-22.0617	13.2164	0.59863	0.0:0.1223:0.7502:0.1274	.	86	Q9NUQ7	UFSP2_HUMAN	C	86;80	ENSP00000264689:R86C;ENSP00000423108:R80C	ENSP00000264689:R86C	R	-	1	0	UFSP2	186576745	0.727000	0.28069	0.999000	0.59377	0.177000	0.22998	3.364000	0.52328	0.831000	0.34780	-0.282000	0.10007	CGC	UFSP2	-	NULL	ENSG00000109775		0.343	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2		0	58	0	G	NM_018359		186339751	-1			no_errors	ENST00000264689	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A	A	186339751	G	A	186339751	3	1	30	1	0	0	0	0	1	0	0	0	16987	1087	38	1	1193	1	UFSP2	4	186339751	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	19424135	186339751	4814525	30	7300											
FST	10468	genome.wustl.edu	37	chr5	52780850	52780850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtcctgtgaagatatcCagtgcactggtgggaaaaaa	15	8	11	7	0	0	2	0	1	0	1	2	3	2	3	2	2	1	1	2	2	6	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:52780850C>A	ENST00000256759.3	+	5	1128	c.745C>A	c.(745-747)Cag>Aag	p.Q249K	FST_ENST00000396947.3_Missense_Mutation_p.Q249K	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	249	Follistatin-like 3.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TGAAGATATCCAGTGCACTGG	0.463																																																	0													149	149	149					5																	52780850		2203	4300	6503	SO:0001583	missense	0			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.745C>A	5.37:g.52780850C>A	ENSP00000256759:p.Gln249Lys		B5BU94|Q9BTH0	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom	p.Q249K	ENST00000256759.3	37	c.745	CCDS3959.1	5	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127309	0.37533	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.28454	1.61;1.84;2.05	5.75	5.75	0.90469	Follistatin-like, N-terminal (1);	0.162761	0.56097	D	0.000022	T	0.25531	0.0621	L	0.27053	0.805	0.80722	D	1	B	0.16802	0.019	B	0.10450	0.005	T	0.04915	-1.0918	10	0.20046	T	0.44	-9.1477	19.9522	0.97203	0.0:1.0:0.0:0.0	.	249	P19883	FST_HUMAN	K	249;249;249;120	ENSP00000256759:Q249K;ENSP00000380151:Q249K;ENSP00000426315:Q120K	ENSP00000256759:Q249K	Q	+	1	0	FST	52816607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.819000	0.62664	2.725000	0.93324	0.655000	0.94253	CAG	FST	-	smart_Fol_N	ENSG00000134363		0.463	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FST	HGNC	protein_coding	OTTHUMT00000253906.1		0	70	0	C	NM_013409		52780850	1			no_errors	ENST00000256759	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	52780850	C	A	52780850	3	1	30	1	0	0	0	0	1	0	0	0	6100	595	21	3	763	3	FST	5	52780850	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		52780850	128134410	31	7301											
PDE4D	5144	genome.wustl.edu	37	chr5	58270835	58270835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaaagtgtccaaaatatCctgggcgtcagggtggacga	11	8	12	10	2	1	0	1	0	0	0	4	2	4	1	3	3	0	0	3	3	4	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:58270835C>A	ENST00000340635.6	-	15	2261	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	PDE4D_ENST00000317118.8_Missense_Mutation_p.D405Y|PDE4D_ENST00000358923.6_Missense_Mutation_p.D394Y|PDE4D_ENST00000502484.2_Missense_Mutation_p.D635Y|PDE4D_ENST00000360047.5_Missense_Mutation_p.D560Y|PDE4D_ENST00000546160.1_Missense_Mutation_p.D635Y|PDE4D_ENST00000503258.1_Missense_Mutation_p.D566Y|PDE4D_ENST00000507116.1_Missense_Mutation_p.D632Y|PDE4D_ENST00000405755.2_Missense_Mutation_p.D574Y	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	696					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCCAAAATATCCTGGGCGTCA	0.527																																																	0													52	54	53					5																	58270835		2028	4202	6230	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2086G>T	5.37:g.58270835C>A	ENSP00000345502:p.Asp696Tyr		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.D696Y	ENST00000340635.6	37	c.2086	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499079	0.64298	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	D;D;D;D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.08	5.08	0.68730	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.093817	0.64402	D	0.000001	D	0.82609	0.5074	L	0.31664	0.95	0.80722	D	1	D;D;P;P;P;P;B;B	0.56746	0.972;0.977;0.919;0.882;0.882;0.919;0.083;0.058	P;P;P;P;P;P;B;B	0.58077	0.563;0.767;0.466;0.832;0.832;0.563;0.025;0.04	D	0.84451	0.0588	10	0.62326	D	0.03	.	18.6453	0.91408	0.0:1.0:0.0:0.0	.	635;696;632;559;574;566;471;405	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	Y	696;565;560;632;394;405;566;574;635;635;394	ENSP00000345502:D696Y;ENSP00000353152:D560Y;ENSP00000424852:D632Y;ENSP00000351800:D394Y;ENSP00000321739:D405Y;ENSP00000425605:D566Y;ENSP00000384806:D574Y;ENSP00000423094:D635Y;ENSP00000442734:D635Y;ENSP00000421013:D394Y	ENSP00000321739:D405Y	D	-	1	0	PDE4D	58306592	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.641000	0.89580	0.655000	0.94253	GAT	PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.527	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0	52	0	C			58270835	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	58270835	C	A	58270835	3	1	30	1	0	0	0	0	1	0	0	0	11681	855	30	3	347	3	PDE4D	5	58270835	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	5489985	58270835	122644425	32	7302											
PCDHA6	56142	genome.wustl.edu	37	chr5	140208211	140208211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagttctagcgaatacttcGggctagatgtgaaaataaac	14	11	9	7	2	2	2	1	1	1	1	3	3	2	2	0	1	3	2	0	1	8	6			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:140208211G>T	ENST00000529310.1	+	1	649	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G179W|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAATACTTCGGGCTAGATGT	0.428																																																	0													68	73	72					5																	140208211		2203	4300	6503	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.535G>T	5.37:g.140208211G>T	ENSP00000433378:p.Gly179Trp		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G179W	ENST00000529310.1	37	c.535	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	8.735	0.917592	0.17982	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.55234	0.53;0.53	3.87	-1.09	0.09904	Cadherin (4);Cadherin-like (1);	6.091010	0.01315	U	0.010758	T	0.66297	0.2775	M	0.62209	1.925	0.09310	N	1	D;P;P	0.54397	0.966;0.933;0.801	P;D;P	0.64144	0.873;0.922;0.775	T	0.51442	-0.8705	10	0.66056	D	0.02	.	5.9284	0.19124	0.5521:0.0:0.3147:0.1332	.	179;179;179	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	W	179	ENSP00000433378:G179W;ENSP00000434113:G179W	ENSP00000434113:G179W	G	+	1	0	PCDHA6	140188395	0.000000	0.05858	0.000000	0.03702	0.525000	0.34531	-4.241000	0.00268	-0.143000	0.11334	0.313000	0.20887	GGG	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081842		0.428	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3		0	32	0	G	NM_018909		140208211	1			no_errors	ENST00000529310	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T	T	140208211	G	T	140208211	3	4	30	1	0	0	0	0	1	0	0	0	11567	1116	39	2	537	2	PCDHA6	5	140208211	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	81937376	140208211	40707049	33	7303											
CYFIP2	26999	genome.wustl.edu	37	chr5	156819965	156819965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtggagcatgtgcgctGcttccagccacccatccacc	7	8	9	17	1	0	0	0	0	0	0	2	1	2	1	5	1	4	3	5	1	0	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr5:156819965G>T	ENST00000521420.1	+	30	3732	c.3641G>T	c.(3640-3642)tGc>tTc	p.C1214F	CYFIP2_ENST00000347377.6_Missense_Mutation_p.C1240F|CYFIP2_ENST00000541131.1_Missense_Mutation_p.C1165F|CYFIP2_ENST00000318218.6_Missense_Mutation_p.C1265F|CYFIP2_ENST00000522463.1_Missense_Mutation_p.C1044F|CYFIP2_ENST00000377576.3_Missense_Mutation_p.C1240F|CYFIP2_ENST00000435847.2_Missense_Mutation_p.C939F|CYFIP2_ENST00000442283.2_3'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGTGCGCTGCTTCCAGCCA	0.502																																																	0													73	79	77					5																	156819965		2174	4291	6465	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3641G>T	5.37:g.156819965G>T	ENSP00000430904:p.Cys1214Phe			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.C1265F	ENST00000521420.1	37	c.3794		5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566789	0.86439	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.23348	2.23;2.23;2.23;2.23;2.23;2.24;1.91	5.38	5.38	0.77491	.	0.042697	0.85682	D	0.000000	T	0.30696	0.0773	L	0.29908	0.895	0.80722	D	1	B;B;B;P;B;P	0.45531	0.138;0.138;0.126;0.543;0.371;0.86	B;B;B;B;B;P	0.52309	0.032;0.032;0.013;0.129;0.157;0.695	T	0.01249	-1.1406	10	0.10902	T	0.67	-32.0067	19.5107	0.95140	0.0:0.0:1.0:0.0	.	1104;1044;1214;1240;1240;1265	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	F	1265;1044;1214;1240;1240;1165;939	ENSP00000325817:C1265F;ENSP00000428009:C1044F;ENSP00000430904:C1214F;ENSP00000313567:C1240F;ENSP00000366799:C1240F;ENSP00000444645:C1165F;ENSP00000403793:C939F	ENSP00000325817:C1265F	C	+	2	0	CYFIP2	156752543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.814000	0.99346	2.679000	0.91253	0.655000	0.94253	TGC	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.502	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0	25	0	G	NM_001037332		156819965	1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	156819965	G	T	156819965	3	4	30	1	0	0	0	0	1	0	0	0	4147	1319	46	3	3837	3	CYFIP2	5	156819965	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	16611754	156819965	24095295	34	7304											
GTPBP2	54676	genome.wustl.edu	37	chr6	43589849	43589849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagtaagactatctctGcctcaaacaccgagcagatg	14	7	9	11	1	2	2	1	0	1	2	3	4	2	3	2	1	4	2	2	1	4	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr6:43589849G>T	ENST00000307126.5	-	11	1522	c.1523C>A	c.(1522-1524)gCa>gAa	p.A508E	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.A420E	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GACTATCTCTGCCTCAAACAC	0.562																																					GBM(116;405 1620 28302 32150 44768)												0													150	123	132					6																	43589849		2203	4300	6503	SO:0001583	missense	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.1523C>A	6.37:g.43589849G>T	ENSP00000303997:p.Ala508Glu			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.A508E	ENST00000307126.5	37	c.1523	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962977	0.92791	.	.	ENSG00000172432	ENST00000393882;ENST00000307126;ENST00000307114;ENST00000434548	T;T	0.50277	0.75;0.83	5.79	5.79	0.91817	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74756	0.3758	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.979	T	0.80346	-0.1421	10	0.87932	D	0	-14.0834	20.0413	0.97592	0.0:0.0:1.0:0.0	.	500;508	Q9BX10-4;Q9BX10	.;GTPB2_HUMAN	E	150;508;420;104	ENSP00000303997:A508E;ENSP00000304893:A420E	ENSP00000304893:A420E	A	-	2	0	GTPBP2	43697827	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.751000	0.94390	0.650000	0.86243	GCA	GTPBP2	-	superfamily_Transl_elong_EF1A/Init_IF2_C	ENSG00000172432		0.562	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1		0	24	0	G			43589849	-1			no_errors	ENST00000307126	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	43589849	G	T	43589849	3	4	30	1	0	0	0	0	1	0	0	0	6907	1319	46	3	293	3	GTPBP2	6	43589849	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		43589849	127525218	35	7305											
SYNE1	23345	genome.wustl.edu	37	chr6	152473130	152473130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaggtgacacgcttttgCaggttgtcccatctctggtt	6	14	12	9	1	1	1	0	1	1	0	3	2	2	2	1	4	1	4	1	4	0	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr6:152473130C>T	ENST00000367255.5	-	134	24877	c.24276G>A	c.(24274-24276)ctG>ctA	p.L8092L	SYNE1_ENST00000354674.4_Silent_p.L247L|SYNE1_ENST00000423061.1_Silent_p.L8021L|SYNE1_ENST00000341594.5_Silent_p.L7704L|SYNE1_ENST00000539504.1_Silent_p.L247L|SYNE1_ENST00000356820.4_Silent_p.L2616L|SYNE1_ENST00000448038.1_Silent_p.L8021L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Silent_p.L8092L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8092					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACGCTTTTGCAGGTTGTCCC	0.522										HNSCC(10;0.0054)																																							0													161	103	123					6																	152473130		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24276G>A	6.37:g.152473130C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L8092	ENST00000367255.5	37	c.24276	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	59	0	C	NM_182961		152473130	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	T	T	152473130	C	T	152473130	2	4	30	1	0	0	0	0	0	0	0	1	15492	697	25	3		3	SYNE1	6	152473130	Silent	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	108883281	152473130	18641937	36	7306											
MYST3	7994	genome.wustl.edu	37	chr8	41791382	41791382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactctgcagggtctgacaCgccgcaagagtttcctcaca	10	9	9	13	2	3	2	1	1	2	1	4	2	4	2	2	1	2	3	2	1	2	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr8:41791382C>T	ENST00000396930.3	-	18	4899	c.4356G>A	c.(4354-4356)gcG>gcA	p.A1452A	KAT6A_ENST00000265713.2_Silent_p.A1452A|KAT6A_ENST00000406337.1_Silent_p.A1452A	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1452					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A1452A(1)									GGGTCTGACACGCCGCAAGAG	0.532																																																	1	Substitution - coding silent(1)	lung(1)											125	110	115					8																	41791382		2203	4300	6503	SO:0001819	synonymous_variant	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4356G>A	8.37:g.41791382C>T			Q76L81	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A1452	ENST00000396930.3	37	c.4356	CCDS6124.1	8																																																																																			KAT6A	-	NULL	ENSG00000083168		0.532	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0	13	0	C	NM_006766		41791382	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.023	T	T	41791382	C	T	41791382	2	4	30	1	0	0	0	0	0	0	0	1	10142	523	19	1		1	MYST3	8	41791382	Silent	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		41791382	104572640	37	7307											
UBAP2	55833	genome.wustl.edu	37	chr9	33943548	33943548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacatttaatcctgtgaCatctgctgaaccaggcattt	10	13	7	11	0	1	2	0	2	1	0	2	2	2	2	2	1	3	3	2	1	2	3	rs370649358		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr9:33943548C>A	ENST00000379238.1	-	15	1702	c.1585G>T	c.(1585-1587)Gtc>Ttc	p.V529F	UBAP2_ENST00000449054.1_Missense_Mutation_p.V529F|UBAP2_ENST00000379225.1_Missense_Mutation_p.V162F|UBAP2_ENST00000379239.4_Missense_Mutation_p.V262F|UBAP2_ENST00000360802.1_Missense_Mutation_p.V529F|UBAP2_ENST00000539807.1_Missense_Mutation_p.V284F|UBAP2_ENST00000418786.2_Missense_Mutation_p.V476F					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AATCCTGTGACATCTGCTGAA	0.463																																																	0													85	81	82					9																	33943548		2203	4300	6503	SO:0001583	missense	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.1585G>T	9.37:g.33943548C>A	ENSP00000368540:p.Val529Phe			Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.V529F	ENST00000379238.1	37	c.1585	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482673	0.84747	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379239;ENST00000539807;ENST00000418786;ENST00000379225	T;T;T;T;T;T;T	0.27104	2.58;2.58;2.58;2.34;2.36;2.01;1.69	5.53	4.62	0.57501	.	0.179211	0.48767	D	0.000178	T	0.42245	0.1194	L	0.46157	1.445	0.58432	D	0.999993	D;D;P;P;D;D;D;D	0.76494	0.977;0.999;0.928;0.928;0.959;0.988;0.999;0.998	P;D;P;P;P;P;D;D	0.70935	0.803;0.933;0.648;0.648;0.734;0.88;0.96;0.971	T	0.29088	-1.0023	10	0.62326	D	0.03	-8.4655	12.6978	0.57014	0.0:0.861:0.0:0.139	.	476;454;284;262;438;162;454;529	E7EWG4;F5H4D5;F5H2U4;A6NCA8;F5H2C8;A2A306;B4DH66;Q5T6F2	.;.;.;.;.;.;.;UBAP2_HUMAN	F	529;529;529;438;262;284;476;162	ENSP00000368540:V529F;ENSP00000416932:V529F;ENSP00000354039:V529F;ENSP00000368541:V262F;ENSP00000439329:V284F;ENSP00000404436:V476F;ENSP00000368527:V162F	ENSP00000354039:V529F	V	-	1	0	UBAP2	33933548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.072000	0.41510	1.296000	0.44742	0.655000	0.94253	GTC	UBAP2	-	pfam_DUF3697_Uba2	ENSG00000137073		0.463	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	-	0	40	0	C	NM_018449		33943548	-1	tier1	-	no_errors	ENST00000360802	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	A	A	33943548	C	A	33943548	3	1	30	1	0	0	0	0	1	0	0	0	16886	478	17	3	1834	3	UBAP2	9	33943548	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		33943548	107269883	38	7308											
SPTAN1	6709	genome.wustl.edu	37	chr9	131394492	131394492	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaggaggccctcatcctGgacaacaagtacacggagca	13	5	12	11	1	1	0	1	0	0	0	2	4	2	4	2	5	3	2	2	5	3	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr9:131394492G>T	ENST00000372731.4	+	52	6944	c.6834G>T	c.(6832-6834)ctG>ctT	p.L2278L	WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000372739.3_Silent_p.L2283L|SPTAN1_ENST00000358161.5_Silent_p.L2283L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2278					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCTCATCCTGGACAACAAGT	0.632																																					NSCLC(120;833 1744 2558 35612 37579)												0													36	35	35					9																	131394492		2203	4300	6503	SO:0001819	synonymous_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6834G>T	9.37:g.131394492G>T			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.L2283	ENST00000372731.4	37	c.6849	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.632	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	52	0	G	NM_003127		131394492	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T	T	131394492	G	T	131394492	2	4	30	1	0	0	0	0	0	0	0	1	15164	1335	47	3		3	SPTAN1	9	131394492	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	97450944	131394492	9818939	39	7309											
FAM73B	84895	genome.wustl.edu	37	chr9	131832593	131832593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctacacgtcactgcccgCgctggcagacgacatcctgc	7	6	11	17	5	1	1	1	0	0	1	2	2	2	1	2	1	3	3	2	1	1	1	rs202169772		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr9:131832593C>T	ENST00000358369.4	+	16	1869	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	548					bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TCACTGCCCGCGCTGGCAGAC	0.672													C|||	1	0.000199681	0	0.0014	5008	,	,		19096	0		0	False		,,,				2504	0																0								C	VAL/ALA	0,4404		0,0,2202	61	48	53		1643	5.7	0.2	9		53	1,8597		0,1,4298	no	missense	FAM73B	NM_032809.2	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	548/594	131832593	1,13001	2202	4299	6501	SO:0001583	missense	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.1643C>T	9.37:g.131832593C>T	ENSP00000351138:p.Ala548Val		Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	pfam_DUF2217	p.A548V	ENST00000358369.4	37	c.1643	CCDS6917.1	9	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.86	2.362229	0.41902	0.0	1.16E-4	ENSG00000148343	ENST00000358369	T	0.23552	1.9	5.67	5.67	0.87782	.	0.276732	0.35772	N	0.002986	T	0.24699	0.0599	L	0.40543	1.245	0.50632	D	0.999888	P;B	0.49358	0.923;0.35	P;B	0.44518	0.452;0.164	T	0.00839	-1.1545	10	0.37606	T	0.19	.	12.0548	0.53529	0.0:0.9131:0.0:0.0869	.	124;548	Q96NP4;Q7L4E1	.;FA73B_HUMAN	V	548	ENSP00000351138:A548V	ENSP00000351138:A548V	A	+	2	0	FAM73B	130872414	0.905000	0.30787	0.210000	0.23637	0.518000	0.34316	2.271000	0.43364	2.668000	0.90789	0.655000	0.94253	GCG	FAM73B	-	pfam_DUF2217	ENSG00000148343		0.672	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7		0	37	0	C	NM_032809		131832593	1			no_errors	ENST00000358369	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.176	T	T	131832593	C	T	131832593	3	4	30	1	0	0	0	0	1	0	0	0	5640	768	27	1	1701	1	FAM73B	9	131832593	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	438101	131832593	9380838	40	7310											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14951002	14951002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgatttcatcatttCttttaaagaatacttcccac	11	17	3	10	0	4	2	2	1	2	1	5	2	5	2	1	0	1	0	1	0	4	6			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:14951002C>A	ENST00000378278.2	-	14	1521	c.1484G>T	c.(1483-1485)aGa>aTa	p.R495I	DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R148I|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R380I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R375I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R380I|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R380I			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	495					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TTCATCATTTCTTTTAAAGAA	0.468								Non-homologous end-joining																																									0													56	55	55					10																	14951002		2203	4300	6503	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1484G>T	10.37:g.14951002C>A	ENSP00000367527:p.Arg495Ile		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.R495I	ENST00000378278.2	37	c.1484	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197718	0.38806	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	5.76	3.7	0.42460	.	0.477180	0.25258	N	0.031969	T	0.31231	0.0790	M	0.68317	2.08	0.21064	N	0.999793	P;B	0.44380	0.834;0.25	P;B	0.45506	0.483;0.064	T	0.12218	-1.0556	10	0.44086	T	0.13	.	10.0601	0.42270	0.0:0.7535:0.0:0.2465	.	380;495	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	I	375;380;380;380;375;375;375;495;375;148	ENSP00000400529:R375I;ENSP00000367492:R380I;ENSP00000350349:R380I;ENSP00000367496:R380I;ENSP00000380030:R375I;ENSP00000367503:R375I;ENSP00000367502:R375I;ENSP00000367527:R495I;ENSP00000367506:R375I;ENSP00000367488:R148I	ENSP00000350349:R380I	R	-	2	0	DCLRE1C	14991008	0.530000	0.26330	0.944000	0.38274	0.979000	0.70002	0.546000	0.23284	1.431000	0.47355	0.655000	0.94253	AGA	DCLRE1C	-	NULL	ENSG00000152457		0.468	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1		0	30	0	C	NM_022487		14951002	-1			no_errors	ENST00000378278	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.140	A	A	14951002	C	A	14951002	3	1	30	1	0	0	0	0	1	0	0	0	4305	913	32	3	598	3	DCLRE1C	10	14951002	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		14951002	120583745	41	7311											
ITGA8	8516	genome.wustl.edu	37	chr10	15701026	15701026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaaattctgaataaacGtcatatccgtagagttaatg	14	12	8	7	3	2	3	1	2	1	1	3	3	3	3	2	0	1	2	2	0	7	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:15701026G>A	ENST00000378076.3	-	10	1273	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	307					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGAATAAACGTCATATCCGT	0.318																																																	0													53	56	55					10																	15701026		2202	4298	6500	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.920C>T	10.37:g.15701026G>A	ENSP00000367316:p.Thr307Met		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T307M	ENST00000378076.3	37	c.920	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379478	0.61845	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.23552	1.9	5.59	4.69	0.59074	.	0.248792	0.45867	N	0.000328	T	0.51143	0.1657	M	0.82193	2.58	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.98	T	0.52638	-0.8549	10	0.36615	T	0.2	.	11.7968	0.52104	0.082:0.0:0.918:0.0	.	292;307	F5H818;P53708	.;ITA8_HUMAN	M	307;292	ENSP00000367316:T307M	ENSP00000367316:T307M	T	-	2	0	ITGA8	15741032	1.000000	0.71417	0.994000	0.49952	0.974000	0.67602	5.153000	0.64888	1.377000	0.46286	-0.222000	0.12452	ACG	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.318	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1		0	40	0	G	NM_003638		15701026	-1			no_errors	ENST00000378076	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	15701026	G	A	15701026	3	1	30	1	0	0	0	0	1	0	0	0	7909	1145	40	1	2355	1	ITGA8	10	15701026	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	750024	15701026	119833721	42	7312											
SLIT1	6585	genome.wustl.edu	37	chr10	98806436	98806436	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaagccatccagaccccGgaacatgccgctccggatgg	9	5	10	17	3	1	1	1	0	0	1	3	3	3	3	7	3	3	1	7	3	2	0			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr10:98806436G>T	ENST00000266058.4	-	18	2073	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	SLIT1_ENST00000371070.4_Silent_p.R610R|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	610					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAGACCCCGGAACATGCCG	0.622																																																	0													47	38	41					10																	98806436		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1828C>A	10.37:g.98806436G>T			Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R610	ENST00000266058.4	37	c.1828	CCDS7453.1	10																																																																																			SLIT1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000187122		0.622	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0	37	0	G	NM_003061		98806436	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T	T	98806436	G	T	98806436	2	4	30	1	0	0	0	0	0	0	0	1	14784	1115	39	2		2	SLIT1	10	98806436	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	83105410	98806436	36728311	43	7313											
NAV2	89797	genome.wustl.edu	37	chr11	19901631	19901631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccagcctcaccagccagCgccacatcagcagtcaaaag	12	4	9	16	1	3	0	3	0	0	0	3	0	3	0	5	0	5	1	5	0	2	0			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:19901631C>T	ENST00000396087.3	+	5	827	c.728C>T	c.(727-729)gCg>gTg	p.A243V	NAV2_ENST00000360655.4_Missense_Mutation_p.A179V|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_Missense_Mutation_p.A172V|NAV2_ENST00000396085.1_Missense_Mutation_p.A243V|NAV2_ENST00000540292.1_Missense_Mutation_p.A174V|NAV2_ENST00000349880.4_Missense_Mutation_p.A243V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	243	Gln-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCAGCCAGCGCCACATCAG	0.632																																																	0													34	32	33					11																	19901631		2198	4293	6491	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.728C>T	11.37:g.19901631C>T	ENSP00000379396:p.Ala243Val		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.A243V	ENST00000396087.3	37	c.728	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971417	0.53614	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.29142	1.62;1.72;1.72;1.68;1.58;1.58	5.73	4.81	0.61882	.	0.230271	0.30437	N	0.009621	T	0.18215	0.0437	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.001;0.004	T	0.04840	-1.0923	9	.	.	.	.	14.8486	0.70277	0.0:0.9293:0.0:0.0707	.	243;179	Q8IVL1-3;Q8IVL1-4	.;.	V	179;243;243;243;172;174	ENSP00000353871:A179V;ENSP00000379394:A243V;ENSP00000309577:A243V;ENSP00000379396:A243V;ENSP00000435395:A172V;ENSP00000443489:A174V	.	A	+	2	0	NAV2	19858207	0.804000	0.28969	0.989000	0.46669	0.906000	0.53458	1.543000	0.36147	1.398000	0.46701	0.561000	0.74099	GCG	NAV2	-	NULL	ENSG00000166833		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0	49	0	C	NM_145117		19901631	1			no_errors	ENST00000396087	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.997	T	T	19901631	C	T	19901631	3	4	30	1	0	0	0	0	1	0	0	0	10222	768	27	1	825	1	NAV2	11	19901631	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		19901631	115104885	44	7314											
NRXN2	9379	genome.wustl.edu	37	chr11	64427860	64427860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccaggcgtagggtgtcgGcagactccctggaagtggtg	6	8	17	10	2	0	1	0	0	0	1	3	2	2	2	2	5	0	3	2	5	2	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:64427860G>A	ENST00000377551.1	-	10	2544	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.A771V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A778V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A747V|NRXN2_ENST00000496291.1_5'Flank			Q9P2S2	NRX2A_HUMAN	neurexin 2	778	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.A778V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TAGGGTGTCGGCAGACTCCCT	0.622																																																	1	Substitution - Missense(1)	breast(1)											158	128	138					11																	64427860		2201	4297	6498	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2333C>T	11.37:g.64427860G>A	ENSP00000366774:p.Ala778Val		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A778V	ENST00000377551.1	37	c.2333	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.146976	0.94603	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.28	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.38959	U	0.001505	D	0.87958	0.6309	M	0.83692	2.655	0.58432	D	0.999999	D;P;D	0.76494	0.992;0.883;0.999	P;P;D	0.87578	0.829;0.688;0.998	D	0.89021	0.3435	10	0.52906	T	0.07	.	14.2418	0.65961	0.0:0.0:1.0:0.0	.	747;778;524	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	778;747;778;747;771	ENSP00000366774:A778V;ENSP00000366782:A747V;ENSP00000265459:A778V;ENSP00000386416:A771V	ENSP00000265459:A778V	A	-	2	0	NRXN2	64184436	1.000000	0.71417	0.947000	0.38551	0.982000	0.71751	7.794000	0.85869	2.216000	0.71823	0.655000	0.94253	GCC	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3		0	39	0	G	NM_015080		64427860	-1			no_errors	ENST00000265459	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	A	A	64427860	G	A	64427860	3	1	30	1	0	0	0	0	1	0	0	0	10705	1203	42	3	3126	3	NRXN2	11	64427860	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	44526229	64427860	70578656	45	7315											
MAML2	84441	genome.wustl.edu	37	chr11	95825365	95825365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgttgctgttgctgctgCtgctgctgttgctgctgctg	0	17	14	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:95825365C>T	ENST00000524717.1	-	2	3114	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	610					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				gttgctgctgctgctgctgtt	0.547			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													35	41	39					11																	95825365		2041	4011	6052	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1830G>A	11.37:g.95825365C>T			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q610	ENST00000524717.1	37	c.1830	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.547	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0	23	0	C			95825365	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.000	T	T	95825365	C	T	95825365	2	4	30	1	0	0	0	0	0	0	0	1	9244	796	28	3		3	MAML2	11	95825365	Silent	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	31397505	95825365	39181151	46	7316											
DSCAML1	57453	genome.wustl.edu	37	chr11	117340692	117340692	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatccatggggggcccatcGggagctgagcagggtagcgg	8	5	18	10	2	0	1	0	1	0	0	2	2	1	2	2	6	3	3	2	6	1	1	rs199942618		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr11:117340692G>T	ENST00000321322.6	-	16	3139	c.3138C>A	c.(3136-3138)ccC>ccA	p.P1046P	DSCAML1_ENST00000527706.1_Silent_p.P776P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	986	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.P1046P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGGCCCATCGGGAGCTGAGC	0.567																																																	1	Substitution - coding silent(1)	endometrium(1)											92	86	88					11																	117340692		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3138C>A	11.37:g.117340692G>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1046	ENST00000321322.6	37	c.3138	CCDS8384.1	11																																																																																			DSCAML1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2		0	43	0	G	NM_020693		117340692	-1			no_errors	ENST00000321322	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.997	T	T	117340692	G	T	117340692	2	4	30	1	0	0	0	0	0	0	0	1	4783	1103	39	2		2	DSCAML1	11	117340692	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	21515327	117340692	17665824	47	7317											
CACNA1C	775	genome.wustl.edu	37	chr12	2742864	2742864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcataattgacgtcattCtcagtgagactaatgtgagt	12	12	10	7	1	2	3	2	3	1	1	3	4	2	3	0	0	1	2	0	0	2	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:2742864C>G	ENST00000347598.4	+	31	3958	c.3958C>G	c.(3958-3960)Ctc>Gtc	p.L1320V	CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1300V|CACNA1C_ENST00000399649.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1320					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGACGTCATTCTCAGTGAGAC	0.473																																																	0													206	174	184					12																	2742864		1568	3582	5150	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3958C>G	12.37:g.2742864C>G	ENSP00000266376:p.Leu1320Val		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L1320V	ENST00000347598.4	37	c.3958	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	7.549	0.662223	0.14645	.	.	ENSG00000151067	ENST00000399644;ENST00000399638;ENST00000399597;ENST00000347598;ENST00000399629;ENST00000402845;ENST00000399603;ENST00000399617;ENST00000406454	D;D;D;D;D;D;D;D;D	0.98777	-5.13;-4.49;-5.13;-4.49;-4.49;-5.13;-5.13;-5.13;-5.13	5.31	5.31	0.75309	.	.	.	.	.	D	0.98311	0.9440	L	0.28694	0.88	0.80722	D	1	B;D;B;B;B;B;B;B;B;B;B	0.76494	0.019;0.999;0.006;0.011;0.006;0.013;0.0;0.006;0.009;0.001;0.001	B;D;B;B;B;B;B;B;B;B;B	0.80764	0.019;0.994;0.036;0.019;0.047;0.077;0.004;0.047;0.015;0.027;0.007	D	0.98701	1.0700	9	0.33141	T	0.24	.	18.9803	0.92752	0.0:1.0:0.0:0.0	.	1297;1320;1300;1300;1300;1300;1300;1320;1300;1300;1300	Q13936-35;Q13936;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-11;E9PDJ1;E9PDJ0;F5GY28	.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.	V	1300;1300;1300;1320;1300;1300;1300;1300;1300	ENSP00000382552:L1300V;ENSP00000382547:L1300V;ENSP00000382506:L1300V;ENSP00000266376:L1320V;ENSP00000382537:L1300V;ENSP00000385724:L1300V;ENSP00000382512:L1300V;ENSP00000382526:L1300V;ENSP00000385896:L1300V	ENSP00000266376:L1320V	L	+	1	0	CACNA1C	2613125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.496000	0.84212	0.561000	0.74099	CTC	CACNA1C	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000151067		0.473	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	35	0	C	NM_000719		2742864	1			no_errors	ENST00000347598	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	G	G	2742864	C	G	2742864	3	3	30	1	0	0	0	0	1	0	0	0	2547	913	32	5	4188	5	CACNA1C	12	2742864	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		2742864	131109031	48	7318											
FGF23	8074	genome.wustl.edu	37	chr12	4479941	4479941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcagttctccgggtcGaaatagtgctggaaggacaa	12	8	12	9	2	1	0	0	0	1	0	3	3	1	2	2	3	3	3	2	3	5	2	rs201114020		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:4479941G>T	ENST00000237837.1	-	3	469	c.324C>A	c.(322-324)ttC>ttA	p.F108L		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	108					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F108F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617																																																	1	Substitution - coding silent(1)	skin(1)											70	67	68					12																	4479941		2202	4300	6502	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.324C>A	12.37:g.4479941G>T	ENSP00000237837:p.Phe108Leu		Q4V758	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.F108L	ENST00000237837.1	37	c.324	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084539	0.55861	.	.	ENSG00000118972	ENST00000237837	D	0.90133	-2.62	4.88	4.88	0.63580	.	0.044496	0.85682	D	0.000000	D	0.93390	0.7892	L	0.52126	1.63	0.47037	D	0.999296	D	0.71674	0.998	D	0.66979	0.948	D	0.92791	0.6248	10	0.41790	T	0.15	-4.2235	18.2026	0.89843	0.0:0.0:1.0:0.0	.	108	Q9GZV9	FGF23_HUMAN	L	108	ENSP00000237837:F108L	ENSP00000237837:F108L	F	-	3	2	FGF23	4350202	1.000000	0.71417	0.742000	0.31022	0.004000	0.04260	4.821000	0.62679	2.526000	0.85167	0.549000	0.68633	TTC	FGF23	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000118972		0.617	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1		0	36	0	G			4479941	-1			no_errors	ENST00000237837	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.992	T	T	4479941	G	T	4479941	3	4	30	1	0	0	0	0	1	0	0	0	5874	1049	37	2	435	2	FGF23	12	4479941	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	1737077	4479941	129371954	49	7319											
NCAPD2	9918	genome.wustl.edu	37	chr12	6635718	6635718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatctgtgcccagatattgCagggctgtgcaaaacaggcc	10	9	12	10	0	1	2	0	1	1	1	1	2	1	2	2	2	4	3	2	2	3	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:6635718C>T	ENST00000315579.5	+	21	3470	c.2671C>T	c.(2671-2673)Cag>Tag	p.Q891*	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.Q846*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	891					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCAGATATTGCAGGGCTGTGC	0.577																																																	0													55	58	57					12																	6635718		2203	4300	6503	SO:0001587	stop_gained	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2671C>T	12.37:g.6635718C>T	ENSP00000325017:p.Gln891*		D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.Q891*	ENST00000315579.5	37	c.2671	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.534870	0.97646	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	.	.	.	4.97	4.97	0.65823	.	0.120180	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3878	18.4103	0.90549	0.0:1.0:0.0:0.0	.	.	.	.	X	891;763;846;763	.	ENSP00000325017:Q891X	Q	+	1	0	NCAPD2	6505979	1.000000	0.71417	0.358000	0.25811	0.202000	0.24057	4.576000	0.60915	2.572000	0.86782	0.655000	0.94253	CAG	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.577	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0	66	0	C	NM_014865		6635718	1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	0.996	T	T	6635718	C	T	6635718	4	4	30	1	0	0	0	0	0	1	0	0	10244	711	25	3	2749	3	NCAPD2	12	6635718	Nonsense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	2155777	6635718	127216177	50	7320											
PHC1	1911	genome.wustl.edu	37	chr12	9073601	9073601	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccacaattgctgccagtcgGcaggccagctccccaaacac	10	5	9	17	1	0	0	0	0	0	0	2	0	1	0	5	2	4	3	5	2	2	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:9073601G>A	ENST00000543824.1	+	5	578	c.246G>A	c.(244-246)cgG>cgA	p.R82R	PHC1_ENST00000544916.1_Silent_p.R82R|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Silent_p.R45R|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	82					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CTGCCAGTCGGCAGGCCAGCT	0.517																																																	0													88	87	87					12																	9073601		2203	4300	6503	SO:0001819	synonymous_variant	0			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.246G>A	12.37:g.9073601G>A			D3DUV4|Q8WVM3|Q9BU63	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R82	ENST00000543824.1	37	c.246	CCDS8597.1	12																																																																																			PHC1	-	NULL	ENSG00000111752		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1		0	42	0	G	NM_004426		9073601	1			no_errors	ENST00000543824	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.525	A	A	9073601	G	A	9073601	2	1	30	1	0	0	0	0	0	0	0	1	11855	1190	42	3		3	PHC1	12	9073601	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	2437883	9073601	124778294	51	7321											
PLBD1	79887	genome.wustl.edu	37	chr12	14656853	14656853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaccacttatggcataGgatgtgtactgagatgctag	10	11	14	6	0	0	1	0	1	0	1	0	4	0	3	1	3	2	3	1	3	4	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:14656853G>T	ENST00000240617.5	-	11	2167	c.1515C>A	c.(1513-1515)tcC>tcA	p.S505S		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	505					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TTATGGCATAGGATGTGTACT	0.463																																																	0													124	109	114					12																	14656853		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1515C>A	12.37:g.14656853G>T			A8K4E9|Q9BVV3|Q9H625	Silent	SNP	pfam_PLipase_B-like	p.S505	ENST00000240617.5	37	c.1515	CCDS31751.1	12																																																																																			PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.463	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	-	0	74	0	G	NM_024829		14656853	-1	tier1	-	no_errors	ENST00000240617	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.994	T	T	14656853	G	T	14656853	2	4	30	1	0	0	0	0	0	0	0	1	12064	987	35	3		3	PLBD1	12	14656853	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	5583252	14656853	119195042	52	7322											
EPS8	2059	genome.wustl.edu	37	chr12	15784375	15784375	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcctccctgggaaacttaCggtccaccggaagttgtttg	7	12	11	11	2	0	0	0	0	0	0	2	2	2	2	4	3	3	2	4	3	3	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:15784375C>T	ENST00000281172.5	-	18	2481		c.e18+1		EPS8_ENST00000543523.1_Splice_Site|EPS8_ENST00000542903.1_Splice_Site|EPS8_ENST00000540613.1_Splice_Site|EPS8_ENST00000543612.1_Splice_Site	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGAAACTTACGGTCCACCGG	0.418																																																	0													130	123	125					12																	15784375		2203	4300	6503	SO:0001630	splice_region_variant	0			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2044+1G>A	12.37:g.15784375C>T			A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Splice_Site	SNP	-	e17+1	ENST00000281172.5	37	c.2044+1	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109205	0.77096	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3629	0.90380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS8	15675642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.355000	0.66046	2.771000	0.95319	0.650000	0.86243	.	EPS8	-	-	ENSG00000151491		0.418	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1		0	31	0	C		Intron	15784375	-1			no_errors	ENST00000281172	ensembl	human	known	74_37	splice_site	6.67	28	2	SNP	1.000	T	T	15784375	C	T	15784375	5	4	30	1	0	0	0	0	0	0	1	0	5210	550	19	1	439	1	EPS8	12	15784375	Splice_Site	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	1127522	15784375	118067520	53	7323											
COQ10A	93058	genome.wustl.edu	37	chr12	56661666	56661666	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcgagccgttccttcatgGgatttgctgctcccttcacc	4	14	8	15	2	2	0	2	0	0	0	5	2	4	1	4	1	3	3	4	1	0	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:56661666G>T	ENST00000308197.5	+	2	484	c.223G>T	c.(223-225)Gga>Tga	p.G75*	RP11-977G19.14_ENST00000546464.1_RNA|COQ10A_ENST00000433805.2_Nonsense_Mutation_p.G43*|COQ10A_ENST00000546544.1_Nonsense_Mutation_p.G58*	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	75						mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TTCCTTCATGGGATTTGCTGC	0.562																																																	0													135	138	137					12																	56661666		2055	4200	6255	SO:0001587	stop_gained	0			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"coenzyme Q10 homolog A (yeast)"				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.223G>T	12.37:g.56661666G>T	ENSP00000312587:p.Gly75*		Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	Nonsense_Mutation	SNP	pfam_Polyket_cyc	p.G75*	ENST00000308197.5	37	c.223	CCDS41796.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.296252|5.296252	0.95574|0.95574	.|.	.|.	ENSG00000135469|ENSG00000135469	ENST00000553234|ENST00000308197;ENST00000433805;ENST00000546544	.|.	.|.	.|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.047975|0.047975	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.41465|.	0.1160|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44544|.	-0.9321|.	4|.	.|0.09843	.|T	.|0.71	.|.	11.9878|11.9878	0.53157|0.53157	0.0848:0.0:0.9152:0.0|0.0848:0.0:0.9152:0.0	.|.	.|.	.|.	.|.	V|X	28|75;43;58	.|.	.|ENSP00000312587:G75X	G|G	+|+	2|1	0|0	COQ10A|COQ10A	54947933|54947933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	3.327000|3.327000	0.52045|0.52045	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	GGG|GGA	COQ10A	-	NULL	ENSG00000135469		0.562	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ10A	HGNC	protein_coding	OTTHUMT00000408332.1		0	23	0	G	NM_144576		56661666	1			no_errors	ENST00000308197	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T	T	56661666	G	T	56661666	4	4	30	1	0	0	0	0	0	1	0	0	3750	1233	43	3	271	3	COQ10A	12	56661666	Nonsense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	40877291	56661666	77190229	54	7324											
HELB	92797	genome.wustl.edu	37	chr12	66700275	66700275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattttaggtacacatccgtGgaaacttggatttagtaaag	13	13	10	5	1	0	0	0	0	0	0	1	3	1	2	1	3	2	2	1	3	6	7			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:66700275G>T	ENST00000247815.4	+	3	817	c.758G>T	c.(757-759)tGg>tTg	p.W253L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	253					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACACATCCGTGGAAACTTGGA	0.363																																																	0													99	104	102					12																	66700275		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.758G>T	12.37:g.66700275G>T	ENSP00000247815:p.Trp253Leu		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.W253L	ENST00000247815.4	37	c.758	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381537	0.82792	.	.	ENSG00000127311	ENST00000247815	T	0.47869	0.83	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.70046	0.3179	M	0.71581	2.175	0.51767	D	0.999931	D	0.89917	1.0	D	0.85130	0.997	T	0.67059	-0.5766	9	.	.	.	-12.9893	20.2664	0.98460	0.0:0.0:1.0:0.0	.	253	Q8NG08	HELB_HUMAN	L	253	ENSP00000247815:W253L	.	W	+	2	0	HELB	64986542	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.778000	0.75043	2.786000	0.95864	0.561000	0.74099	TGG	HELB	-	NULL	ENSG00000127311		0.363	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1		0	48	0	G			66700275	1			no_errors	ENST00000247815	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	66700275	G	T	66700275	3	4	30	1	0	0	0	0	1	0	0	0	7072	1357	47	3	768	3	HELB	12	66700275	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	10038609	66700275	67151620	55	7325											
GLIPR1L2	144321	genome.wustl.edu	37	chr12	75816822	75816822	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataatggattggacaagaaAaataagcgattgaacactag	19	8	9	5	1	0	2	0	1	0	1	0	5	0	4	0	2	2	0	0	2	7	5	rs75261424		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:75816822A>G	ENST00000550916.1	+	4	717				GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000378692.3_Intron|GLIPR1L2_ENST00000441218.1_Intron|GLIPR1L2_ENST00000320460.4_Silent_p.K241K	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TGGACAAGAAAAATAAGCGAT	0.313																																																	0													109	111	110					12																	75816822		2203	4300	6503	SO:0001627	intron_variant	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.670+53A>G	12.37:g.75816822A>G			Q6MZS1|Q8N6N0|Q8NA43	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.K241	ENST00000550916.1	37	c.723	CCDS58258.1	12																																																																																			GLIPR1L2	-	NULL	ENSG00000180481		0.313	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1		0	42	0	A	NM_152436		75816822	1			no_errors	ENST00000320460	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.002	G	G	75816822	A	G	75816822	1	3	30	0	1	0	0	0	0	0	0	0	6469	11	1	4		4	GLIPR1L2	12	75816822	Intron	SNP	A	TCGA-IG-A7DP-01A-31D-A33E-09	9116547	75816822	58035073	56	7326											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85521701	85521701	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacatactgctgcaacaGaaggcctgccaaattcttcc	11	9	8	13	0	1	1	0	0	1	1	2	1	2	1	3	2	6	3	3	2	5	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:85521701G>T	ENST00000393217.2	+	18	4160	c.4099G>T	c.(4099-4101)Gaa>Taa	p.E1367*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1367										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGCTGCAACAGAAGGCCTGCC	0.418																																																	0													150	150	150					12																	85521701		1869	4114	5983	SO:0001587	stop_gained	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4099G>T	12.37:g.85521701G>T	ENSP00000376910:p.Glu1367*		Q567P4|Q9BS17|Q9HA36	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1367*	ENST00000393217.2	37	c.4099	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.471982	0.97594	.	.	ENSG00000133640	ENST00000393217	.	.	.	4.94	0.731	0.18277	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	2.971	0.05923	0.1962:0.2318:0.4538:0.1182	.	.	.	.	X	1367	.	ENSP00000376910:E1367X	E	+	1	0	LRRIQ1	84045832	0.001000	0.12720	0.004000	0.12327	0.018000	0.09664	0.635000	0.24629	0.585000	0.29608	0.591000	0.81541	GAA	LRRIQ1	-	superfamily_P-loop_NTPase	ENSG00000133640		0.418	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	48	0	G	NM_032165		85521701	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	0.000	T	T	85521701	G	T	85521701	4	4	30	1	0	0	0	0	0	1	0	0	9064	943	33	3	4169	3	LRRIQ1	12	85521701	Nonsense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	9704879	85521701	48330194	57	7327											
CCDC60	160777	genome.wustl.edu	37	chr12	119961500	119961500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttatctgtgtccacagccGcactaattgtgacatcaaca	11	12	6	12	1	3	1	1	1	2	0	4	1	4	1	2	0	2	1	2	0	3	3	rs373413433		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr12:119961500G>A	ENST00000327554.2	+	11	1571	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	369										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCCACAGCCGCACTAATTGT	0.567																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	84	90		1106	2.4	0.4	12		90	0,8600		0,0,4300	no	missense	CCDC60	NM_178499.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	369/551	119961500	1,13005	2203	4300	6503	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1106G>A	12.37:g.119961500G>A	ENSP00000333374:p.Arg369His			Missense_Mutation	SNP	NULL	p.R369H	ENST00000327554.2	37	c.1106	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910498	0.52439	2.27E-4	0.0	ENSG00000183273	ENST00000327554	T	0.24908	1.83	3.3	2.4	0.29515	.	0.672928	0.12900	N	0.429887	T	0.26774	0.0655	M	0.68317	2.08	0.24564	N	0.993951	D	0.54397	0.966	B	0.43445	0.42	T	0.14615	-1.0466	9	.	.	.	-2.595	6.4144	0.21708	0.1358:0.0:0.8642:0.0	.	369	Q8IWA6	CCD60_HUMAN	H	369	ENSP00000333374:R369H	.	R	+	2	0	CCDC60	118445883	0.008000	0.16893	0.372000	0.25991	0.317000	0.28152	0.149000	0.16243	0.957000	0.37930	0.655000	0.94253	CGC	CCDC60	-	NULL	ENSG00000183273		0.567	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	-	0	42	0	G	NM_178499		119961500	1	tier1	-	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.373	A	A	119961500	G	A	119961500	3	1	30	1	0	0	0	0	1	0	0	0	2838	1087	38	1	1148	1	CCDC60	12	119961500	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	34439799	119961500	13890395	58	7328											
USPL1	10208	genome.wustl.edu	37	chr13	31232940	31232940	+	Frame_Shift_Del	DEL	C	C	-																															attagctgctcttatgtcttCcccgcaaagcagaacagttc																										TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr13:31232940delC	ENST00000255304.4	+	9	3068	c.2726delC	c.(2725-2727)tccfs	p.S909fs		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	909					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CTTATGTCTTCCCCGCAAAGC	0.403																																					Ovarian(60;318 1180 1554 28110 31601)												0													59	60	59					13																	31232940		2203	4300	6503	SO:0001589	frameshift_variant	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2726delC	13.37:g.31232940delC	ENSP00000255304:p.Ser909fs		Q14109|Q6AI45|Q8IY30|Q8IYE8	Frame_Shift_Del	DEL	pfscan_Peptidase_C19/C67	p.P910fs	ENST00000255304.4	37	c.2726	CCDS9336.1	13																																																																																			USPL1	-	NULL	ENSG00000132952		0.403	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1		0	26	0	C	NM_005800		31232940	1	tier1		no_errors	ENST00000255304	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.232	-	-	31232940	C	-	31232940	7	5	30	1	0	1	0	1	0	0	0	0	17141	855	30	0	2756	0	USPL1	13	31232940	Frame_Shift_Del	DEL	C	TCGA-IG-A7DP-01A-31D-A33E-09		31232940	83936938	59	7329											
DIAPH3	81624	genome.wustl.edu	37	chr13	60557938	60557938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctaaatctagtctttttCgatatgtgaagtctggatcc	11	16	7	7	1	4	1	0	1	4	0	6	3	5	2	1	1	0	0	1	1	6	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr13:60557938C>T	ENST00000400324.4	-	13	1665	c.1445G>A	c.(1444-1446)cGa>cAa	p.R482Q	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R482Q|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R436Q|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R412Q|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R471Q|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R482Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	482					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TAGTCTTTTTCGATATGTGAA	0.318																																																	0													98	92	94					13																	60557938		1810	4070	5880	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1445G>A	13.37:g.60557938C>T	ENSP00000383178:p.Arg482Gln		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.R482Q	ENST00000400324.4	37	c.1445	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	34	5.323865	0.95708	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.82	5.82	0.92795	Diaphanous FH3 (1);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.80332	2.49	0.46823	D	0.999213	D;D;D	0.89917	1.0;1.0;0.998	D;P;D	0.74674	0.984;0.853;0.912	D	0.90873	0.4747	10	0.48119	T	0.1	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	219;219;482	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Q	482;482;471;436;412;471;412;436;482;219;482	ENSP00000383178:R482Q;ENSP00000383184:R482Q;ENSP00000367141:R471Q;ENSP00000383173:R412Q;ENSP00000383174:R436Q;ENSP00000267215:R482Q	ENSP00000267214:R219Q	R	-	2	0	DIAPH3	59455939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.252000	0.78309	2.756000	0.94617	0.563000	0.77884	CGA	DIAPH3	-	pfam_FH3_dom	ENSG00000139734		0.318	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0	82	0	C	NM_001042517		60557938	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	missense	6.11	123	8	SNP	1.000	T	T	60557938	C	T	60557938	3	4	30	1	0	0	0	0	1	0	0	0	4534	884	31	1	2220	1	DIAPH3	13	60557938	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	29324998	60557938	54611940	60	7330											
NGDN	25983	genome.wustl.edu	37	chr14	23945466	23945466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaacagaagctgagcGggagaagaagcgtctagaac	17	4	14	6	2	1	7	0	2	1	5	1	8	1	7	0	1	5	1	0	1	6	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr14:23945466G>T	ENST00000408901.3	+	8	591	c.563G>T	c.(562-564)cGg>cTg	p.R188L	NGDN_ENST00000556580.1_5'UTR|NGDN_ENST00000397154.3_Missense_Mutation_p.R188L	NM_001042635.1|NM_015514.1	NP_001036100.1|NP_056329.1	Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	188					regulation of translation (GO:0006417)	cell projection (GO:0042995)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R188P(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GAAGCTGAGCGGGAGAAGAAG	0.468																																																	2	Substitution - Missense(2)	lung(2)											69	72	71					14																	23945466		2203	4300	6503	SO:0001583	missense	0			AK022215	CCDS32051.1, CCDS41926.1	14q11.2	2014-06-13	2006-08-02	2006-08-02	ENSG00000129460	ENSG00000129460			20271	protein-coding gene	gene with protein product		610777	"chromosome 14 open reading frame 120"	C14orf120		16705177	Standard	NM_001042635		Approved	DKFZP564O092, LCP5, lpd-2, NGD	uc001wjy.3	Q8NEJ9	OTTHUMG00000171501	ENST00000408901.3:c.563G>T	14.37:g.23945466G>T	ENSP00000386134:p.Arg188Leu		A8K760|Q9Y400	Missense_Mutation	SNP	pfam_Sas10/Utp3/C1D	p.R188L	ENST00000408901.3	37	c.563	CCDS41926.1	14	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716557	0.89205	.	.	ENSG00000129460	ENST00000408901;ENST00000397154	T;T	0.34667	1.36;1.35	5.89	5.89	0.94794	.	0.052250	0.85682	D	0.000000	T	0.57681	0.2070	M	0.74881	2.28	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.58660	0.843;0.701	T	0.53279	-0.8461	10	0.38643	T	0.18	-2.0535	19.0276	0.92939	0.0:0.0:1.0:0.0	.	188;188	Q8NEJ9-2;Q8NEJ9	.;NGDN_HUMAN	L	188	ENSP00000386134:R188L;ENSP00000380340:R188L	ENSP00000380340:R188L	R	+	2	0	NGDN	23015306	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.447000	0.35101	2.797000	0.96272	0.563000	0.77884	CGG	NGDN	-	NULL	ENSG00000129460		0.468	NGDN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NGDN	HGNC	protein_coding	OTTHUMT00000413782.3		0	20	0	G	NM_001042635		23945466	1			no_errors	ENST00000408901	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	23945466	G	T	23945466	3	4	30	1	0	0	0	0	1	0	0	0	10432	1116	39	2	593	2	NGDN	14	23945466	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		23945466	83404074	61	7331											
LRFN5	145581	genome.wustl.edu	37	chr14	42360920	42360920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatcttcagaaacttgttCgagtcaggactcctctacca	11	12	6	12	1	5	1	3	0	2	1	7	3	6	2	2	1	2	1	2	1	3	4	rs143897378		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr14:42360920C>T	ENST00000298119.4	+	4	3042	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	618						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAACTTGTTCGAGTCAGGAC	0.488										HNSCC(30;0.082)																																							0								C	LEU/SER	1,4405	4.2+/-10.8	0,1,2202	144	115	125		1853	3.9	0.8	14	dbSNP_134	125	0,8600		0,0,4300	no	missense	LRFN5	NM_152447.3	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	618/720	42360920	1,13005	2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1853C>T	14.37:g.42360920C>T	ENSP00000298119:p.Ser618Leu		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S618L	ENST00000298119.4	37	c.1853	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908016	0.33721	2.27E-4	0.0	ENSG00000165379	ENST00000298119	T	0.51817	0.69	5.69	3.88	0.44766	.	0.422418	0.20143	N	0.098334	T	0.27663	0.0680	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05146	-1.0903	10	0.56958	D	0.05	.	10.2036	0.43099	0.0:0.839:0.0:0.161	.	618	Q96NI6	LRFN5_HUMAN	L	618	ENSP00000298119:S618L	ENSP00000298119:S618L	S	+	2	0	LRFN5	41430670	0.999000	0.42202	0.817000	0.32601	0.988000	0.76386	2.840000	0.48215	0.778000	0.33520	-0.145000	0.13849	TCG	LRFN5	-	NULL	ENSG00000165379		0.488	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	49	0	C	NM_152447		42360920	1	tier1	rs143897378	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	42360920	C	T	42360920	3	4	30	1	0	0	0	0	1	0	0	0	8976	893	31	1	1859	1	LRFN5	14	42360920	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	18415454	42360920	64988620	62	7332											
LMAN1L	79748	genome.wustl.edu	37	chr15	75113535	75113535	+	Frame_Shift_Del	DEL	C	C	-																															aatggaagaagcagctggggCccccaggccaagccaggcct																										TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr15:75113535delC	ENST00000309664.5	+	9	1166	c.1027delC	c.(1027-1029)cccfs	p.P344fs	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.P332fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	344						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGCTGGGGCCCCCAGGCCA	0.652																																																	0													9	11	10					15																	75113535		2086	4132	6218	SO:0001589	frameshift_variant	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1027delC	15.37:g.75113535delC	ENSP00000310431:p.Pro344fs		Q6UWN2	Frame_Shift_Del	DEL	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.P344fs	ENST00000309664.5	37	c.1027	CCDS10270.1	15																																																																																			LMAN1L	-	NULL	ENSG00000140506		0.652	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4		0	30	0	C			75113535	1	tier1		no_errors	ENST00000309664	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.000	-	-	75113535	C	-	75113535	7	5	30	1	0	1	0	1	0	0	0	0	8867	739	26	0	1061	0	LMAN1L	15	75113535	Frame_Shift_Del	DEL	C	TCGA-IG-A7DP-01A-31D-A33E-09		75113535	27417857	63	7333											
CDH11	1009	genome.wustl.edu	37	chr16	65032644	65032644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcttctcgatccaacGtcttggtggcatgaatgttc	6	15	8	12	2	4	1	0	1	4	0	8	2	5	1	1	2	1	2	1	2	2	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr16:65032644G>T	ENST00000268603.4	-	4	959	c.344C>A	c.(343-345)aCg>aAg	p.T115K	CDH11_ENST00000566827.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.T115K	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	115	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCGATCCAACGTCTTGGTGGC	0.502			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													157	119	132					16																	65032644		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.344C>A	16.37:g.65032644G>T	ENSP00000268603:p.Thr115Lys		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T115K	ENST00000268603.4	37	c.344	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105752	0.37145	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390;ENST00000536902	T;T	0.50277	0.75;0.75	5.87	4.92	0.64577	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	N	0.02142	-0.665	0.80722	D	1	D;P	0.89917	1.0;0.905	D;B	0.81914	0.995;0.286	T	0.52704	-0.8540	10	0.19147	T	0.46	.	15.9628	0.79945	0.0:0.0:0.8642:0.1357	.	115;115	P55287-2;P55287	.;CAD11_HUMAN	K	115;115;98;115	ENSP00000268603:T115K;ENSP00000377711:T115K	ENSP00000268603:T115K	T	-	2	0	CDH11	63590145	1.000000	0.71417	0.912000	0.35992	0.783000	0.44284	4.213000	0.58520	1.623000	0.50342	-0.152000	0.13540	ACG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000140937		0.502	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1		0	40	0	G	NM_033664		65032644	-1			no_errors	ENST00000268603	ensembl	human	known	74_37	missense	5.13	36	2	SNP	0.995	T	T	65032644	G	T	65032644	3	4	30	1	0	0	0	0	1	0	0	0	3104	1145	40	2	2086	2	CDH11	16	65032644	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		65032644	25322109	64	7334											
SPNS3	201305	genome.wustl.edu	37	chr17	4349367	4349367	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggctcttcttcctgtccCggggcatcgtgggcactggc	2	12	13	14	2	2	0	0	0	2	0	5	0	4	0	2	5	0	3	2	5	0	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:4349367C>A	ENST00000355530.2	+	4	707	c.427C>A	c.(427-429)Cgg>Agg	p.R143R	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.R16R	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	143					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTTCCTGTCCCGGGGCATCGT	0.647																																																	0													77	71	73					17																	4349367		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.427C>A	17.37:g.4349367C>A			Q8IZ31	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.P97Q	ENST00000355530.2	37	c.290	CCDS11045.1	17																																																																																			SPNS3	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000182557		0.647	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	-	0	31	0	C	NM_182538		4349367	1	tier1	-	no_errors	ENST00000575194	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A	A	4349367	C	A	4349367	2	1	30	1	0	0	0	0	0	0	0	1	15123	643	23	2		2	SPNS3	17	4349367	Silent	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		4349367	76845843	65	7335											
USP22	23326	genome.wustl.edu	37	chr17	20916228	20916228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagtggttggggttgttggCcttcttcccattgtcatcac	4	15	12	10	0	3	0	2	0	1	0	4	0	4	0	2	4	0	4	2	4	0	6			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:20916228C>T	ENST00000261497.4	-	7	1062	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	USP22_ENST00000537526.2_Missense_Mutation_p.A275T|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	287	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGTTGTTGGCCTTCTTCCCA	0.542																																																	0													172	178	176					17																	20916228		2079	4236	6315	SO:0001583	missense	0			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.859G>A	17.37:g.20916228C>T	ENSP00000261497:p.Ala287Thr		A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.A287T	ENST00000261497.4	37	c.859	CCDS42285.1	17	.	.	.	.	.	.	.	.	.	.	c	15.00	2.701860	0.48307	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.31247	1.5;1.5	4.03	4.03	0.46877	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.372196	0.25978	N	0.027097	T	0.24890	0.0604	L	0.38733	1.17	0.58432	D	0.999996	B;B	0.17268	0.021;0.003	B;B	0.17098	0.01;0.017	T	0.05699	-1.0869	10	0.14252	T	0.57	.	16.209	0.82146	0.0:1.0:0.0:0.0	.	275;287	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	T	355;275;287	ENSP00000440950:A275T;ENSP00000261497:A287T	ENSP00000261497:A287T	A	-	1	0	USP22	20856820	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.117000	0.64667	1.798000	0.52647	0.558000	0.71614	GCC	USP22	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000124422		0.542	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	-	0	48	0	C			20916228	-1	tier1	-	no_errors	ENST00000261497	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	20916228	C	T	20916228	3	4	30	1	0	0	0	0	1	0	0	0	17103	739	26	3	746	3	USP22	17	20916228	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	16566861	20916228	60278982	66	7336											
SLC6A4	6532	genome.wustl.edu	37	chr17	28545833	28545833	+	Frame_Shift_Del	DEL	T	T	-																															acctttgaaaatcgggcagaTtttcctccatattgaaatgc																										TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:28545833delT	ENST00000401766.2	-	3	972	c.460delA	c.(460-462)atcfs	p.I154fs	SLC6A4_ENST00000261707.3_Frame_Shift_Del_p.I154fs			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	154					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATCGGGCAGATTTTCCTCCAT	0.522																																																	0													122	125	124					17																	28545833		2203	4300	6503	SO:0001589	frameshift_variant	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.460delA	17.37:g.28545833delT	ENSP00000385822:p.Ile154fs		Q5EE02	Frame_Shift_Del	DEL	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.I154fs	ENST00000401766.2	37	c.460	CCDS11256.1	17																																																																																			SLC6A4	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000108576		0.522	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3		0	36	0	T	NM_001045		28545833	-1	tier1		no_errors	ENST00000261707	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	28545833	T	-	28545833	7	5	30	1	0	1	0	1	0	0	0	0	14731	1493	52	0	1480	0	SLC6A4	17	28545833	Frame_Shift_Del	DEL	T	TCGA-IG-A7DP-01A-31D-A33E-09	7629605	28545833	52649377	67	7337											
C17orf66	256957	genome.wustl.edu	37	chr17	34182096	34182096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttcagcaaggacccggaGctgtttcttgatccttggct	8	13	10	10	1	2	1	1	1	1	0	3	3	3	3	2	3	2	4	2	3	2	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:34182096G>T	ENST00000311880.2	-	15	1832	c.1684C>A	c.(1684-1686)Ctc>Atc	p.L562I	C17orf66_ENST00000592980.1_Missense_Mutation_p.L522I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		562					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AGGACCCGGAGCTGTTTCTTG	0.522																																																	0													110	101	104					17																	34182096		2203	4300	6503	SO:0001583	missense	0																														ENST00000311880.2:c.1684C>A	17.37:g.34182096G>T	ENSP00000309560:p.Leu562Ile		B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L562I	ENST00000311880.2	37	c.1684	CCDS11299.1	17	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374488	0.42105	.	.	ENSG00000172653	ENST00000311880	T	0.60548	0.18	3.59	-0.783	0.10958	.	1.398810	0.04939	N	0.458257	T	0.44912	0.1316	L	0.32530	0.975	0.09310	N	1	P;P	0.42518	0.782;0.675	B;B	0.40375	0.327;0.175	T	0.40887	-0.9539	10	0.87932	D	0	.	3.5892	0.07982	0.3397:0.1921:0.4682:0.0	.	522;562	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	I	562	ENSP00000309560:L562I	ENSP00000309560:L562I	L	-	1	0	C17orf66	31206209	0.863000	0.29885	0.000000	0.03702	0.002000	0.02628	0.949000	0.29109	-0.084000	0.12595	-0.218000	0.12543	CTC	C17orf66	-	NULL	ENSG00000172653		0.522	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1	-	0	82	0	G			34182096	-1	tier1	-	no_errors	ENST00000311880	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	T	T	34182096	G	T	34182096	3	4	30	1	0	0	0	0	1	0	0	0	1880	971	34	3	32	3	C17orf66	17	34182096	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	5636263	34182096	47013114	68	7338											
KLHL10	317719	genome.wustl.edu	37	chr17	40004470	40004470	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggctggccaatgttgagGaatatgcagctagacgggac	11	7	15	8	1	0	2	0	1	0	1	0	4	0	4	1	4	2	4	1	4	4	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:40004470G>T	ENST00000293303.4	+	5	1891	c.1738G>T	c.(1738-1740)Gaa>Taa	p.E580*	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	580					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.E580K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CAATGTTGAGGAATATGCAGC	0.463																																																	1	Substitution - Missense(1)	central_nervous_system(1)											129	127	127					17																	40004470		1997	4175	6172	SO:0001587	stop_gained	0			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"Kelch-like", "BTB/POZ domain containing"	18829	protein-coding gene	gene with protein product		608778	"kelch-like 10 (Drosophila)"				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1738G>T	17.37:g.40004470G>T	ENSP00000293303:p.Glu580*		Q6NW28|Q96MC0	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E580*	ENST00000293303.4	37	c.1738	CCDS42340.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.664428	0.97747	.	.	ENSG00000161594	ENST00000293303	.	.	.	6.17	6.17	0.99709	.	0.170218	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	.	.	.	X	580	.	.	E	+	1	0	KLHL10	37257996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.959000	0.70339	2.941000	0.99782	0.655000	0.94253	GAA	KLHL10	-	NULL	ENSG00000161594		0.463	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL10	HGNC	protein_coding	OTTHUMT00000326535.1		0	20	0	G	NM_152467		40004470	1			no_errors	ENST00000293303	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	1.000	T	T	40004470	G	T	40004470	4	4	30	1	0	0	0	0	0	1	0	0	8393	1175	41	3	1756	3	KLHL10	17	40004470	Nonsense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	5822374	40004470	41190740	69	7339											
STXBP4	252983	genome.wustl.edu	37	chr17	53150373	53150373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactatgaagaagtgatccGtctgttagaggccaagatta	13	10	12	6	1	1	5	0	2	1	3	2	6	2	6	2	2	0	1	2	2	6	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:53150373G>A	ENST00000376352.2	+	13	1331	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H	STXBP4_ENST00000434978.2_Missense_Mutation_p.R353H	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	375					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R375H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GAAGTGATCCGTCTGTTAGAG	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											133	122	125					17																	53150373		2203	4300	6503	SO:0001583	missense	0			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1124G>A	17.37:g.53150373G>A	ENSP00000365530:p.Arg375His		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom	p.R375H	ENST00000376352.2	37	c.1124	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	12.26	1.886064	0.33348	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.50277	0.75;0.75	5.57	3.57	0.40892	.	0.164927	0.56097	N	0.000040	T	0.27594	0.0678	N	0.12961	0.28	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.06180	-1.0841	10	0.14656	T	0.56	-1.1044	11.521	0.50551	0.1473:0.0:0.8527:0.0	.	353;375	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	H	375;353	ENSP00000365530:R375H;ENSP00000391087:R353H	ENSP00000365530:R375H	R	+	2	0	STXBP4	50505372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.372000	0.34261	1.336000	0.45506	0.650000	0.86243	CGT	STXBP4	-	NULL	ENSG00000166263		0.443	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1		0	48	0	G	NM_178509		53150373	1			no_errors	ENST00000376352	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A	A	53150373	G	A	53150373	3	1	30	1	0	0	0	0	1	0	0	0	15402	1145	40	1	1166	1	STXBP4	17	53150373	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	13145903	53150373	28044837	70	7340											
TEX14	56155	genome.wustl.edu	37	chr17	56677018	56677018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaacccttggtgaatgaGgttgactgcctattgaaaaa	13	11	11	6	0	0	5	0	5	0	0	0	5	0	5	2	2	2	1	2	2	5	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:56677018G>T	ENST00000240361.8	-	14	1791	c.1706C>A	c.(1705-1707)cCt>cAt	p.P569H	TEX14_ENST00000349033.5_Missense_Mutation_p.P563H|TEX14_ENST00000389934.3_Missense_Mutation_p.P563H			Q8IWB6	TEX14_HUMAN	testis expressed 14	569					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGAATGAGGTTGACTGCC	0.448																																																	0													36	38	37					17																	56677018		2169	4231	6400	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.1706C>A	17.37:g.56677018G>T	ENSP00000240361:p.Pro569His		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P569H	ENST00000240361.8	37	c.1706	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064556	0.36470	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80653	-1.4;-1.4;-1.35	5.75	-4.85	0.03142	.	0.690283	0.13494	N	0.383774	T	0.73297	0.3569	L	0.27053	0.805	0.09310	N	1	D;D;D	0.76494	0.995;0.999;0.999	P;D;D	0.68621	0.844;0.955;0.959	T	0.64580	-0.6374	10	0.17832	T	0.49	0.6055	3.3047	0.06996	0.4389:0.1078:0.3468:0.1066	.	569;563;563	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	569;563;563	ENSP00000240361:P569H;ENSP00000374584:P563H;ENSP00000268910:P563H	ENSP00000240361:P569H	P	-	2	0	TEX14	54032017	0.049000	0.20398	0.023000	0.16930	0.395000	0.30598	-0.057000	0.11768	-0.614000	0.05687	-0.150000	0.13652	CCT	TEX14	-	NULL	ENSG00000121101		0.448	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1		0	24	0	G			56677018	-1			no_errors	ENST00000240361	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.002	T	T	56677018	G	T	56677018	3	4	30	1	0	0	0	0	1	0	0	0	15825	1000	35	3	2867	3	TEX14	17	56677018	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	3526645	56677018	24518192	71	7341											
RNF213	57674	genome.wustl.edu	37	chr17	78320934	78320934	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccaagggtactttgcGtcctttgccaaagcctacga	9	10	10	12	3	0	0	0	0	0	0	2	2	2	0	4	1	5	1	4	1	4	4	rs141391616	byFrequency	TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:78320934G>T	ENST00000582970.1	+	29	8942	c.8799G>T	c.(8797-8799)gcG>gcT	p.A2933A	RNF213_ENST00000508628.2_Silent_p.A2982A|RNF213_ENST00000336301.6_Silent_p.A1006A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2933					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1006A(1)|p.A2982A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTACTTTGCGTCCTTTGCCA	0.547																																																	2	Substitution - coding silent(2)	prostate(2)											58	48	51					17																	78320934		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8799G>T	17.37:g.78320934G>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.A2933	ENST00000582970.1	37	c.8799	CCDS58606.1	17																																																																																			RNF213	-	superfamily_P-loop_NTPase	ENSG00000173821		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	43	0	G	NM_020914		78320934	1			no_errors	ENST00000582970	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T	T	78320934	G	T	78320934	2	4	30	1	0	0	0	0	0	0	0	1	13522	1132	40	2		2	RNF213	17	78320934	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	21643916	78320934	2874276	72	7342											
BAIAP2	10458	genome.wustl.edu	37	chr17	79080600	79080600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggacaaggacgacctgGccatcccaccccccgattac	9	6	8	18	2	0	0	0	0	0	0	2	4	2	2	7	3	1	0	7	3	2	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr17:79080600G>T	ENST00000321300.6	+	12	1486	c.1393G>T	c.(1393-1395)Gcc>Tcc	p.A465S	BAIAP2_ENST00000428708.2_Missense_Mutation_p.A465S|BAIAP2_ENST00000575712.1_Missense_Mutation_p.A465S|BAIAP2_ENST00000321280.7_Missense_Mutation_p.A465S|BAIAP2_ENST00000416299.2_Missense_Mutation_p.A328S|BAIAP2_ENST00000575245.1_Missense_Mutation_p.A498S|BAIAP2_ENST00000435091.3_Missense_Mutation_p.A465S|BAIAP2_ENST00000392411.3_Missense_Mutation_p.A387S	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	465					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGACGACCTGGCCATCCCACC	0.701																																																	0													62	59	60					17																	79080600		2201	4299	6500	SO:0001583	missense	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.1393G>T	17.37:g.79080600G>T	ENSP00000316338:p.Ala465Ser		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A465S	ENST00000321300.6	37	c.1393	CCDS11775.1	17	.	.	.	.	.	.	.	.	.	.	G	10.26	1.300986	0.23650	.	.	ENSG00000175866	ENST00000321300;ENST00000428708;ENST00000435091;ENST00000321280;ENST00000392411;ENST00000416299	T;T;T;T;T;T	0.31247	1.88;1.9;1.5;1.5;1.9;1.5	4.78	4.78	0.61160	.	0.337248	0.31113	N	0.008238	T	0.17023	0.0409	N	0.14661	0.345	0.33928	D	0.641733	B;B;B;B;B;B;B;B;B	0.21688	0.032;0.015;0.059;0.003;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B	0.18263	0.018;0.014;0.021;0.006;0.014;0.007;0.008;0.014;0.014	T	0.19976	-1.0289	10	0.15066	T	0.55	-29.3595	11.856	0.52437	0.0:0.0:0.8249:0.1751	.	328;387;466;465;465;465;465;466;465	B4DWA1;F8W878;B3KPV9;Q9UQB8;Q9UQB8-2;Q9UQB8-3;Q9UQB8-5;Q9UQB8-6;Q9UQB8-4	.;.;.;BAIP2_HUMAN;.;.;.;.;.	S	465;465;465;465;387;328	ENSP00000316338:A465S;ENSP00000401022:A465S;ENSP00000413069:A465S;ENSP00000315685:A465S;ENSP00000376211:A387S;ENSP00000391837:A328S	ENSP00000315685:A465S	A	+	1	0	BAIAP2	76695195	1.000000	0.71417	0.996000	0.52242	0.130000	0.20726	1.865000	0.39479	2.232000	0.73038	0.298000	0.19748	GCC	BAIAP2	-	NULL	ENSG00000175866		0.701	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	-	0	35	0	G			79080600	1	tier1	-	no_errors	ENST00000321300	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	79080600	G	T	79080600	3	4	30	1	0	0	0	0	1	0	0	0	1302	1203	42	3	1439	3	BAIAP2	17	79080600	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	759666	79080600	2114610	73	7343											
ANO8	57719	genome.wustl.edu	37	chr19	17441667	17441667	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcgtggctcctccacggcTtccccaggtgagtccagcgt	4	8	14	15	3	0	1	0	1	0	0	4	1	4	1	5	4	1	2	5	4	0	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr19:17441667T>A	ENST00000159087.4	-	8	1121	c.963A>T	c.(961-963)gaA>gaT	p.E321D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	321					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCTCCACGGCTTCCCCAGGTG	0.612																																																	0													109	109	109					19																	17441667		2203	4300	6503	SO:0001583	missense	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.963A>T	19.37:g.17441667T>A	ENSP00000159087:p.Glu321Asp		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.E321D	ENST00000159087.4	37	c.963	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	t	14.24	2.475523	0.43942	.	.	ENSG00000074855	ENST00000159087	T	0.67698	-0.28	4.59	-2.51	0.06365	.	0.124811	0.52532	D	0.000073	T	0.62780	0.2456	L	0.53671	1.685	0.27389	N	0.955207	B	0.24317	0.101	B	0.40329	0.326	T	0.59247	-0.7490	10	0.25106	T	0.35	.	11.09	0.48110	0.0:0.5665:0.0:0.4335	.	321	Q9HCE9	ANO8_HUMAN	D	321	ENSP00000159087:E321D	ENSP00000159087:E321D	E	-	3	2	ANO8	17302667	0.875000	0.30112	0.928000	0.36995	0.778000	0.44026	-0.038000	0.12144	-0.336000	0.08438	0.255000	0.18592	GAA	ANO8	-	pfam_Anoctamin	ENSG00000074855		0.612	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1		0	20	0	T	XM_050644		17441667	-1			no_errors	ENST00000159087	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.884	A	A	17441667	T	A	17441667	3	1	30	1	0	0	0	0	1	0	0	0	703	1606	56	5	2779	5	ANO8	19	17441667	Missense_Mutation	SNP	T	TCGA-IG-A7DP-01A-31D-A33E-09		17441667	41687316	74	7344											
IL4I1	259307	genome.wustl.edu	37	chr19	50398401	50398401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccggtaggtgaagatgcGgcccccgatcctgttatctg	6	10	13	12	3	1	2	0	1	1	1	3	3	3	2	4	3	1	2	4	3	3	2	rs150016115		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr19:50398401G>T	ENST00000391826.2	-	4	431	c.289C>A	c.(289-291)Cgc>Agc	p.R97S	IL4I1_ENST00000341114.3_Missense_Mutation_p.R119S|IL4I1_ENST00000595948.1_Missense_Mutation_p.R119S	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	97						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)	p.R119C(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GTGAAGATGCGGCCCCCGATC	0.647																																																	1	Substitution - Missense(1)	lung(1)											106	87	93					19																	50398401		2203	4300	6503	SO:0001583	missense	0			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.289C>A	19.37:g.50398401G>T	ENSP00000375702:p.Arg97Ser		Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.R119S	ENST00000391826.2	37	c.355	CCDS12787.1	19	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592777	0.86953	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.97710	-4.5;-4.5	5.19	5.19	0.71726	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.90198	3.095	0.51767	D	0.999931	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99581	1.0973	10	0.87932	D	0	-48.284	14.1999	0.65696	0.0:0.0:1.0:0.0	.	119;119;97	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	S	119;97	ENSP00000342557:R119S;ENSP00000375702:R97S	ENSP00000342557:R119S	R	-	1	0	IL4I1	55090213	1.000000	0.71417	0.988000	0.46212	0.940000	0.58332	4.935000	0.63498	2.426000	0.82243	0.478000	0.44815	CGC	IL4I1	-	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom	ENSG00000104951		0.647	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1		0	56	0	G			50398401	-1			no_errors	ENST00000341114	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	50398401	G	T	50398401	3	4	30	1	0	0	0	0	1	0	0	0	7724	1116	39	2	1434	2	IL4I1	19	50398401	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	32956734	50398401	8730582	75	7345											
ZNF135	7694	genome.wustl.edu	37	chr19	58578889	58578889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacctcacccagcatctgcGaatccacactggggagaaac	12	5	8	16	1	2	1	1	0	1	1	3	3	3	1	4	2	3	1	4	2	2	0			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr19:58578889G>A	ENST00000313434.5	+	5	1138	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	ZNF135_ENST00000401053.4_Missense_Mutation_p.R370Q|ZNF135_ENST00000359978.6_Missense_Mutation_p.R358Q|ZNF135_ENST00000511556.1_Missense_Mutation_p.R358Q|ZNF135_ENST00000506786.1_Missense_Mutation_p.R304Q|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000439855.2_Missense_Mutation_p.R346Q	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	346					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CAGCATCTGCGAATCCACACT	0.572																																																	0													51	44	46					19																	58578889		2203	4300	6503	SO:0001583	missense	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1037G>A	19.37:g.58578889G>A	ENSP00000321406:p.Arg346Gln		B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R370Q	ENST00000313434.5	37	c.1109		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.86|11.86	1.765839|1.765839	0.31228|0.31228	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000504540;ENST00000401053;ENST00000359978;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T;T	.|0.24723	.|4.32;1.84;4.32;4.32;4.32;4.32	3.18|3.18	2.1|2.1	0.27182|0.27182	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.44435|0.44435	0.1293|0.1293	M|M	0.61703|0.61703	1.905|1.905	0.21950|0.21950	N|N	0.999456|0.999456	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.80764	.|0.983;0.994;0.984	T|T	0.15122|0.15122	-1.0448|-1.0448	5|9	.|0.59425	.|D	.|0.04	.|.	9.3833|9.3833	0.38327|0.38327	0.0:0.0:0.7847:0.2153|0.0:0.0:0.7847:0.2153	.|.	.|358;346;358	.|E9PEV2;P52742;Q8N1I7	.|.;ZN135_HUMAN;.	K|Q	364|358;370;358;346;346;358;304	.|ENSP00000441410:R370Q;ENSP00000369437:R358Q;ENSP00000444828:R346Q;ENSP00000321406:R346Q;ENSP00000422074:R358Q;ENSP00000427691:R304Q	.|ENSP00000321406:R346Q	E|R	+|+	1|2	0|0	ZNF135|ZNF135	63270701|63270701	0.001000|0.001000	0.12720|0.12720	0.655000|0.655000	0.29622|0.29622	0.006000|0.006000	0.05464|0.05464	0.772000|0.772000	0.26647|0.26647	0.655000|0.655000	0.30866|0.30866	-0.321000|-0.321000	0.08615|0.08615	GAA|CGA	ZNF135	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176293		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2		0	42	0	G	NM_003436		58578889	1			no_errors	ENST00000401053	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.989	A	A	58578889	G	A	58578889	3	1	30	1	0	0	0	0	1	0	0	0	17773	1058	37	1	1240	1	ZNF135	19	58578889	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	8180488	58578889	550094	76	7346											
EDEM2	55741	genome.wustl.edu	37	chr20	33714149	33714149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtaccagtcatcgaagcGggtgtagttccggatggctt	8	10	14	9	3	1	0	1	0	0	0	3	2	2	1	2	4	2	4	2	4	3	4			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr20:33714149G>T	ENST00000374492.3	-	8	979	c.874C>A	c.(874-876)Cgc>Agc	p.R292S	EDEM2_ENST00000540582.1_Missense_Mutation_p.R251S|EDEM2_ENST00000374491.3_Missense_Mutation_p.R255S|EDEM2_ENST00000542871.1_Missense_Mutation_p.R16S|EDEM2_ENST00000541621.1_Missense_Mutation_p.R71S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	292					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCATCGAAGCGGGTGTAGTTC	0.532																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													167	148	155					20																	33714149		2203	4300	6503	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.874C>A	20.37:g.33714149G>T	ENSP00000363616:p.Arg292Ser		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R292S	ENST00000374492.3	37	c.874	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916462	0.52546	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.18	5.18	0.71444	.	0.291012	0.34200	N	0.004178	T	0.64605	0.2613	L	0.45698	1.435	0.38297	D	0.942881	B;B;B;B	0.33512	0.302;0.27;0.415;0.259	B;B;B;B	0.35607	0.136;0.185;0.13;0.206	T	0.67821	-0.5571	10	0.41790	T	0.15	-8.706	11.9642	0.53025	0.0:0.0:0.7036:0.2964	.	251;71;255;292	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	S	255;292;71;16;251	ENSP00000363615:R255S;ENSP00000363616:R292S;ENSP00000443528:R71S;ENSP00000441642:R16S;ENSP00000441548:R251S	ENSP00000363615:R255S	R	-	1	0	EDEM2	33177810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.942000	0.70203	2.413000	0.81919	0.563000	0.77884	CGC	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.532	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	-	0	58	0	G	NM_018217		33714149	-1	tier1	-	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	33714149	G	T	33714149	3	4	30	1	0	0	0	0	1	0	0	0	4926	1116	39	2	878	2	EDEM2	20	33714149	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		33714149	29311371	77	7347											
CASS4	57091	genome.wustl.edu	37	chr20	55012582	55012582	+	Frame_Shift_Del	DEL	C	C	-																															actgcccaagtctatgaattCcccgaccctcccaccagtgc																										TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr20:55012582delC	ENST00000360314.3	+	3	624	c.399delC	c.(397-399)ttcfs	p.F133fs	CASS4_ENST00000371336.3_Frame_Shift_Del_p.F133fs|CASS4_ENST00000434344.1_Frame_Shift_Del_p.F133fs	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	133					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TCTATGAATTCCCCGACCCTC	0.572																																																	0													72	77	76					20																	55012582		2188	4276	6464	SO:0001589	frameshift_variant	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.399delC	20.37:g.55012582delC	ENSP00000353462:p.Phe133fs		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Frame_Shift_Del	DEL	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D135fs	ENST00000360314.3	37	c.399	CCDS33492.1	20																																																																																			CASS4	-	NULL	ENSG00000087589		0.572	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2		0	30	0	C	NM_020356		55012582	1	tier1		no_errors	ENST00000360314	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.000	-	-	55012582	C	-	55012582	7	5	30	1	0	1	0	1	0	0	0	0	2690	854	30	0	405	0	CASS4	20	55012582	Frame_Shift_Del	DEL	C	TCGA-IG-A7DP-01A-31D-A33E-09	21298433	55012582	8012938	78	7348											
CDH4	1002	genome.wustl.edu	37	chr20	60498710	60498710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgccccccggcaccgtgCtgaccacgttttcagctgtg	4	9	12	16	4	1	1	1	1	0	0	1	1	1	1	5	1	3	4	5	1	0	2			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr20:60498710C>T	ENST00000360469.5	+	10	1664	c.1576C>T	c.(1576-1578)Ctg>Ttg	p.L526L	CDH4_ENST00000543233.1_Silent_p.L452L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	526	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGCACCGTGCTGACCACGTT	0.622																																																	0													65	55	58					20																	60498710		2203	4300	6503	SO:0001819	synonymous_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1576C>T	20.37:g.60498710C>T			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.L526	ENST00000360469.5	37	c.1576	CCDS13488.1	20																																																																																			CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000179242		0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	28	0	C	NM_001794		60498710	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.980	T	T	60498710	C	T	60498710	2	4	30	1	0	0	0	0	0	0	0	1	3119	796	28	3		3	CDH4	20	60498710	Silent	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	5486128	60498710	2526810	79	7349											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19713732	19713732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgaaggttacttactaGgaagttctggtggaggagtt	11	12	13	5	0	1	1	0	1	1	0	1	4	1	4	0	5	2	3	0	5	5	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr21:19713732G>T	ENST00000284885.3	-	13	1595	c.1562C>A	c.(1561-1563)cCt>cAt	p.P521H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	521						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.P521L(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTACTTACTAGGAAGTTCTGG	0.433																																																	1	Substitution - Missense(1)	NS(1)											134	128	130					21																	19713732		2203	4300	6503	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1562C>A	21.37:g.19713732G>T	ENSP00000284885:p.Pro521His		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.P521H	ENST00000284885.3	37	c.1562	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016095	0.75161	.	.	ENSG00000154646	ENST00000284885	D	0.88046	-2.33	5.64	5.64	0.86602	CUB (1);	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	M	0.72894	2.215	0.48632	D	0.999682	D	0.89917	1.0	D	0.97110	1.0	D	0.92318	0.5863	9	.	.	.	.	18.6798	0.91543	0.0:0.0:1.0:0.0	.	521	P98073	ENTK_HUMAN	H	521	ENSP00000284885:P521H	.	P	-	2	0	TMPRSS15	18635603	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.244000	0.72391	2.659000	0.90383	0.484000	0.47621	CCT	TMPRSS15	-	NULL	ENSG00000154646		0.433	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2		0	16	0	G	NM_002772		19713732	-1			no_errors	ENST00000284885	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	19713732	G	T	19713732	3	4	30	1	0	0	0	0	1	0	0	0	16293	1000	35	3	1549	3	TMPRSS15	21	19713732	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		19713732	28416163	80	7350											
MYO18B	84700	genome.wustl.edu	37	chr22	26422418	26422418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttggcacaggataaacGaagaggctggggacactgag	12	7	14	8	1	1	2	0	1	1	1	1	5	1	4	0	5	1	2	0	5	3	3	rs371851187		TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr22:26422418G>A	ENST00000407587.2	+	43	6650	c.6481G>A	c.(6481-6483)Gaa>Aaa	p.E2161K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2160K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2160K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2160						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGATAAACGAAGAGGCTGG	0.502																																																	0								G	LYS/GLU	0,3768		0,0,1884	120	130	127		6478	-0.6	0	22		127	1,8231		0,1,4115	no	missense	MYO18B	NM_032608.5	56	0,1,5999	AA,AG,GG		0.0121,0.0,0.0083	benign	2160/2568	26422418	1,11999	1884	4116	6000	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6481G>A	22.37:g.26422418G>A	ENSP00000386096:p.Glu2161Lys		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E2160K	ENST00000407587.2	37	c.6478		22	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738225	0.30774	0.0	1.21E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86164	-2.06;-2.06;-2.08	5.48	-0.547	0.11836	.	0.628019	0.12375	N	0.474435	T	0.79753	0.4500	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.17465	0.0;0.001;0.013;0.002;0.022	B;B;B;B;B	0.12837	0.001;0.001;0.003;0.002;0.008	T	0.67511	-0.5652	10	0.48119	T	0.1	.	4.2938	0.10892	0.3868:0.1806:0.4326:0.0	.	1673;2162;2160;2161;2160	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	K	2160;2160;2161	ENSP00000441229:E2160K;ENSP00000334563:E2160K;ENSP00000386096:E2161K	ENSP00000334563:E2160K	E	+	1	0	MYO18B	24752418	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.482000	0.06544	0.294000	0.22547	0.591000	0.81541	GAA	MYO18B	-	NULL	ENSG00000133454		0.502	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	26	0	G	NM_032608		26422418	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	A	A	26422418	G	A	26422418	3	1	30	1	0	0	0	0	1	0	0	0	10104	1059	37	1	6644	1	MYO18B	22	26422418	Missense_Mutation	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09		26422418	24882148	81	7351											
CELSR1	9620	genome.wustl.edu	37	chr22	46759904	46759904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactcactcagagtcggaGccatcggcctgggcgctccc	6	7	12	16	3	2	1	2	0	0	1	5	2	3	2	3	3	2	2	3	3	1	1			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chr22:46759904G>T	ENST00000262738.3	-	34	9023	c.9024C>A	c.(9022-9024)ggC>ggA	p.G3008G		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	3008					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGAGTCGGAGCCATCGGCCT	0.662																																																	0													15	18	17					22																	46759904		2181	4288	6469	SO:0001819	synonymous_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.9024C>A	22.37:g.46759904G>T			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G3008	ENST00000262738.3	37	c.9024	CCDS14076.1	22																																																																																			CELSR1	-	NULL	ENSG00000075275		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0	31	0	G	NM_014246		46759904	-1	tier1	-	no_errors	ENST00000262738	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.056	T	T	46759904	G	T	46759904	2	4	30	1	0	0	0	0	0	0	0	1	3228	958	34	3		3	CELSR1	22	46759904	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	20337486	46759904	4544662	82	7352											
MXRA5	25878	genome.wustl.edu	37	chrX	3242902	3242902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctattgaaggcttcagaCaagtcatgtccttcagcttg	10	13	8	10	0	4	2	3	1	1	1	5	2	5	2	1	1	1	2	1	1	3	5			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:3242902C>A	ENST00000217939.6	-	5	978	c.824G>T	c.(823-825)tGt>tTt	p.C275F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	275	LRRCT.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGCTTCAGACAAGTCATGTC	0.473																																																	0													91	85	87					X																	3242902		2203	4300	6503	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.824G>T	X.37:g.3242902C>A	ENSP00000217939:p.Cys275Phe		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.C275F	ENST00000217939.6	37	c.824	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729594	0.30684	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.83163	-1.69	3.41	3.41	0.39046	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.41823	U	0.000804	D	0.93090	0.7800	H	0.94582	3.555	0.41463	D	0.98805	D	0.89917	1.0	D	0.83275	0.996	D	0.95147	0.8269	10	0.87932	D	0	.	14.6991	0.69145	0.0:1.0:0.0:0.0	.	275	Q9NR99	MXRA5_HUMAN	F	275	ENSP00000217939:C275F	ENSP00000217939:C275F	C	-	2	0	MXRA5	3252902	1.000000	0.71417	0.004000	0.12327	0.150000	0.21749	6.326000	0.72905	1.331000	0.45412	0.425000	0.28330	TGT	MXRA5	-	smart_Cys-rich_flank_reg_C	ENSG00000101825		0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	46	0	C	NM_015419		3242902	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.912	A	A	3242902	C	A	3242902	3	1	30	1	0	0	0	0	1	0	0	0	10041	478	17	3	7674	3	MXRA5	23	3242902	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09		3242902	152027658	83	7353											
CXCR3	2833	genome.wustl.edu	37	chrX	70836449	70836449	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtctaccctgctttctcgGccacagttgcgggccaaagc	7	9	10	15	3	2	0	0	0	2	0	3	0	2	0	3	2	4	2	3	2	2	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:70836449G>T	ENST00000373693.3	-	2	940	c.873C>A	c.(871-873)ggC>ggA	p.G291G	CXCR3_ENST00000373691.4_Silent_p.G338G	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	291					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					TGCTTTCTCGGCCACAGTTGC	0.617																																																	0													70	52	58					X																	70836449		2203	4300	6503	SO:0001819	synonymous_variant	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.873C>A	X.37:g.70836449G>T			B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.G338	ENST00000373693.3	37	c.1014	CCDS14416.1	X																																																																																			CXCR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3	ENSG00000186810		0.617	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1		0	40	0	G			70836449	-1			no_errors	ENST00000373691	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.000	T	T	70836449	G	T	70836449	2	4	30	1	0	0	0	0	0	0	0	1	4101	1190	42	3		3	CXCR3	23	70836449	Silent	SNP	G	TCGA-IG-A7DP-01A-31D-A33E-09	67593547	70836449	84434111	84	7354											
FMR1	2332	genome.wustl.edu	37	chrX	147010265	147010265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgttaatcccaacaaacCtgccacaaaagatactttcc	15	10	3	13	0	1	1	0	0	1	1	3	1	3	1	4	0	4	1	4	0	6	3			TCGA-IG-A7DP-01A-31D-A33E-09	TCGA-IG-A7DP-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b5a32ec3-2a12-4644-9a15-4659b1c623ef	b1a9378f-00d1-4db7-867f-73fe4beff8e6	g.chrX:147010265C>A	ENST00000370475.4	+	5	487	c.359C>A	c.(358-360)cCt>cAt	p.P120H	FMR1_ENST00000334557.6_Missense_Mutation_p.P120H|FMR1_ENST00000218200.8_Missense_Mutation_p.P120H|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.P120H|FMR1_ENST00000370471.3_Missense_Mutation_p.P120H|FMR1_ENST00000370477.1_Missense_Mutation_p.P120H|FMR1_ENST00000370470.1_Missense_Mutation_p.P120H	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	120					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAACAAACCTGCCACAAAA	0.363									Fragile X syndrome																																								0													91	86	88					X																	147010265		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.359C>A	X.37:g.147010265C>A	ENSP00000359506:p.Pro120His		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.P120H	ENST00000370475.4	37	c.359	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562855	0.86335	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.59364	1.04;0.27;1.06;1.03;1.37;1.05;1.07	5.25	5.25	0.73442	.	0.048450	0.85682	D	0.000000	T	0.75939	0.3918	M	0.73962	2.25	0.80722	D	1	P;D;D;D	0.76494	0.886;0.999;0.997;0.988	D;D;D;P	0.79784	0.944;0.993;0.948;0.862	T	0.78036	-0.2361	10	0.54805	T	0.06	-11.2593	16.9579	0.86264	0.0:1.0:0.0:0.0	.	120;120;120;120	Q8IXW7;Q06787;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.	H	120	ENSP00000218200:P120H;ENSP00000359502:P120H;ENSP00000359508:P120H;ENSP00000359506:P120H;ENSP00000355115:P120H;ENSP00000395923:P120H;ENSP00000359501:P120H	ENSP00000218200:P120H	P	+	2	0	FMR1	146817957	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.674000	0.83992	2.299000	0.77371	0.538000	0.68166	CCT	FMR1	-	NULL	ENSG00000102081		0.363	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	-	0	131	0	C	NM_002024		147010265	1	tier1	-	no_errors	ENST00000370475	ensembl	human	known	74_37	missense	5.56	119	7	SNP	1.000	A	A	147010265	C	A	147010265	3	1	30	1	0	0	0	0	1	0	0	0	5982	681	24	3	377	3	FMR1	23	147010265	Missense_Mutation	SNP	C	TCGA-IG-A7DP-01A-31D-A33E-09	76173816	147010265	8260295	85	7355											
PER3	8863	genome.wustl.edu	37	chr1	7887202	7887202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttccaagcagacgcGgtcggccggctgcaggaaag	9	7	13	12	4	1	1	0	0	1	1	3	2	2	2	2	4	3	3	2	4	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:7887202G>A	ENST00000361923.2	+	17	2364	c.2189G>A	c.(2188-2190)cGg>cAg	p.R730Q	PER3_ENST00000377532.3_Missense_Mutation_p.R738Q|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	730	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCAGACGCGGTCGGCCGGC	0.552																																																	0													14	18	17					1																	7887202		2067	4135	6202	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2189G>A	1.37:g.7887202G>A	ENSP00000355031:p.Arg730Gln		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.R730Q	ENST00000361923.2	37	c.2189	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	7.268	0.606624	0.14002	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.09723	2.95;2.95	4.52	1.38	0.22167	.	1.884860	0.02939	N	0.140214	T	0.09642	0.0237	L	0.47716	1.5	0.09310	N	1	P;P;P;P	0.43662	0.814;0.607;0.549;0.814	B;B;B;B	0.32724	0.151;0.087;0.134;0.151	T	0.41716	-0.9493	10	0.15066	T	0.55	.	9.2625	0.37621	0.1681:0.1583:0.6736:0.0	.	730;738;738;730	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	Q	738;730	ENSP00000366755:R738Q;ENSP00000355031:R730Q	ENSP00000355031:R730Q	R	+	2	0	PER3	7809789	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.142000	0.16096	0.175000	0.19841	-1.134000	0.01955	CGG	PER3	-	NULL	ENSG00000049246		0.552	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1		0	42	0	G	NM_016831		7887202	1			no_errors	ENST00000361923	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.000	A	A	7887202	G	A	7887202	3	1	31	1	0	0	0	0	1	0	0	0	11770	1116	39	1	2255	1	PER3	1	7887202	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		7887202	241363419	1	7356											
ALDH4A1	8659	genome.wustl.edu	37	chr1	19203950	19203950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgctcctccagcagccgcCctttgatctgcggccacagc	5	9	10	17	2	1	1	0	1	1	0	3	1	3	1	5	1	5	2	5	1	0	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:19203950C>A	ENST00000375341.3	-	10	1354	c.1097G>T	c.(1096-1098)gGg>gTg	p.G366V	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G306V|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G366V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G366V|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	366					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCAGCCGCCCTTTGATCTG	0.682																																																	0													24	25	24					1																	19203950		2201	4300	6501	SO:0001583	missense	0			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1097G>T	1.37:g.19203950C>A	ENSP00000364490:p.Gly366Val		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.G366V	ENST00000375341.3	37	c.1097	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361794	0.41801	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.52	-0.981	0.10269	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.849423	0.10531	N	0.663870	T	0.20129	0.0484	L	0.29908	0.895	0.50313	D	0.999865	B	0.11235	0.004	B	0.19946	0.027	T	0.13308	-1.0514	10	0.48119	T	0.1	-17.2802	6.4129	0.21700	0.0:0.2357:0.5135:0.2509	.	366	P30038	AL4A1_HUMAN	V	366;366;366;306	ENSP00000290597:G366V;ENSP00000364490:G366V;ENSP00000446071:G366V;ENSP00000442988:G306V	ENSP00000290597:G366V	G	-	2	0	ALDH4A1	19076537	0.984000	0.35163	1.000000	0.80357	0.971000	0.66376	0.101000	0.15251	0.359000	0.24239	-0.165000	0.13383	GGG	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	ENSG00000159423		0.682	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	-	0	38	0	C			19203950	-1	tier1	-	no_errors	ENST00000290597	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.997	A	A	19203950	C	A	19203950	3	1	31	1	0	0	0	0	1	0	0	0	501	623	22	3	618	3	ALDH4A1	1	19203950	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	11316748	19203950	230046671	2	7357											
PHC2	1912	genome.wustl.edu	37	chr1	33796985	33796985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaacagaagcgcttggaaCgcttgaacttataggcaaag	14	8	12	7	2	0	2	0	1	0	1	0	4	0	4	0	3	4	3	0	3	7	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:33796985C>T	ENST00000257118.5	-	11	2020	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	PHC2_ENST00000373422.3_Missense_Mutation_p.R262H|PHC2_ENST00000373418.3_Missense_Mutation_p.R121H|PHC2_ENST00000419414.2_Missense_Mutation_p.R657H|PHC2_ENST00000373416.1_Missense_Mutation_p.R121H|PHC2_ENST00000431992.1_Missense_Mutation_p.R627H|PHC2_ENST00000485928.1_5'UTR|MIR3605_ENST00000583214.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	656					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCGCTTGGAACGCTTGAACTT	0.522																																																	0													124	133	130					1																	33796985		2203	4300	6503	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1967G>A	1.37:g.33796985C>T	ENSP00000257118:p.Arg656His		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R657H	ENST00000257118.5	37	c.1970	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.682738	0.96774	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.85	5.85	0.93711	Zinc finger, FCS-type (1);	0.117635	0.64402	D	0.000008	T	0.68851	0.3046	M	0.82193	2.58	0.53688	D	0.999975	D;D;D;D	0.76494	0.999;0.999;0.999;0.992	P;P;P;P	0.59221	0.854;0.854;0.854;0.736	T	0.72871	-0.4161	10	0.72032	D	0.01	-11.7522	17.6714	0.88218	0.0:1.0:0.0:0.0	.	657;628;656;71	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	H	627;656;262;121;234;657;121	ENSP00000389436:R627H;ENSP00000257118:R656H;ENSP00000362521:R262H;ENSP00000362517:R121H;ENSP00000391440:R657H;ENSP00000362515:R121H	ENSP00000257118:R656H	R	-	2	0	PHC2	33569572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.343000	0.79319	2.771000	0.95319	0.561000	0.74099	CGT	PHC2	-	pfscan_Znf_FCS	ENSG00000134686		0.522	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	-	0	92	0	C	NM_198040		33796985	-1	tier1	-	no_errors	ENST00000419414	ensembl	human	known	74_37	missense	26.60	69	25	SNP	1.000	T	T	33796985	C	T	33796985	3	4	31	1	0	0	0	0	1	0	0	0	11856	536	19	1	625	1	PHC2	1	33796985	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	14593035	33796985	215453636	3	7358											
CCDC17	149483	genome.wustl.edu	37	chr1	46088492	46088492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagttctgcctctcgccggGagctcagcgggttcctgggg	5	9	15	12	3	3	0	1	0	2	0	5	1	4	1	3	4	3	3	3	4	1	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:46088492G>A	ENST00000528266.1	-	5	818	c.671C>T	c.(670-672)tCc>tTc	p.S224F	CCDC17_ENST00000421127.2_Missense_Mutation_p.S215F|CCDC17_ENST00000343901.2_Missense_Mutation_p.S192F|CCDC17_ENST00000464739.1_5'Flank|CCDC17_ENST00000445048.2_Intron			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	224										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CTCTCGCCGGGAGCTCAGCGG	0.687																																																	0													16	16	16					1																	46088492		2201	4298	6499	SO:0001583	missense	0				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.671C>T	1.37:g.46088492G>A	ENSP00000432172:p.Ser224Phe		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	NULL	p.S192F	ENST00000528266.1	37	c.575	CCDS44131.2	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850530	0.51270	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.19250	2.16;2.16;2.16	5.04	4.1	0.47936	.	1.678270	0.02728	N	0.114711	T	0.22898	0.0553	L	0.29908	0.895	0.09310	N	1	D;P;P	0.54964	0.969;0.799;0.799	P;B;B	0.44811	0.461;0.366;0.366	T	0.25813	-1.0121	10	0.66056	D	0.02	-0.0073	9.9275	0.41501	0.1002:0.0:0.8998:0.0	.	224;215;192	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	F	215;192;224	ENSP00000389415:S215F;ENSP00000341451:S192F;ENSP00000432172:S224F	ENSP00000341451:S192F	S	-	2	0	CCDC17	45861079	0.001000	0.12720	0.012000	0.15200	0.005000	0.04900	0.539000	0.23175	2.501000	0.84356	0.561000	0.74099	TCC	CCDC17	-	NULL	ENSG00000159588		0.687	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CCDC17	HGNC	protein_coding	OTTHUMT00000386833.1	-	0	148	0	G	NM_152500		46088492	-1	tier1	-	no_errors	ENST00000343901	ensembl	human	known	74_37	missense	47.73	92	84	SNP	0.003	A	A	46088492	G	A	46088492	3	1	31	1	0	0	0	0	1	0	0	0	2800	1174	41	3	1233	3	CCDC17	1	46088492	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	12291507	46088492	203162129	4	7359											
LRRC41	10489	genome.wustl.edu	37	chr1	46763994	46763994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcaatcctctccaagtaaTatatattgagcagaggtagg	13	11	8	9	0	2	2	1	1	1	1	4	2	3	2	3	2	1	3	3	2	7	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:46763994T>C	ENST00000343304.6	-	2	533	c.248A>G	c.(247-249)tAt>tGt	p.Y83C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	83					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCAAGTAATATATATTGAG	0.433																																																	0													96	98	98					1																	46763994		2203	4300	6503	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.248A>G	1.37:g.46763994T>C	ENSP00000343298:p.Tyr83Cys		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Y83C	ENST00000343304.6	37	c.248	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.221949	0.58560	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.83755	-1.76	5.8	5.8	0.92144	.	0.089995	0.47852	D	0.000203	D	0.83995	0.5375	N	0.24115	0.695	0.31893	N	0.616966	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.957;0.991;0.957	D	0.85721	0.1325	10	0.87932	D	0	0.0675	10.5062	0.44834	0.1445:0.0:0.0:0.8555	.	83;61;83	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	C	83;61	ENSP00000343298:Y83C	ENSP00000343298:Y83C	Y	-	2	0	LRRC41	46536581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.253000	0.58791	2.216000	0.71823	0.482000	0.46254	TAT	LRRC41	-	NULL	ENSG00000132128		0.433	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	-	0	138	0	T	NM_006369		46763994	-1	tier1	-	no_errors	ENST00000343304	ensembl	human	known	74_37	missense	41.30	81	57	SNP	1.000	C	C	46763994	T	C	46763994	3	2	31	1	0	0	0	0	1	0	0	0	9034	1406	49	4	2226	4	LRRC41	1	46763994	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	675502	46763994	202486627	5	7360											
STIL	6491	genome.wustl.edu	37	chr1	47746765	47746765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttccaagtggttaatCaaaggaggattttcattatt	13	15	9	4	0	2	0	2	0	0	0	3	2	3	2	1	3	0	2	1	3	5	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:47746765C>A	ENST00000360380.3	-	13	1728	c.1365G>T	c.(1363-1365)ttG>ttT	p.L455F	STIL_ENST00000371877.3_Missense_Mutation_p.L455F|STIL_ENST00000396221.2_Missense_Mutation_p.L455F|STIL_ENST00000243182.6_Missense_Mutation_p.L455F|STIL_ENST00000337817.5_Missense_Mutation_p.L455F	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	455					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AGTGGTTAATCAAAGGAGGAT	0.423																																																	0													137	135	135					1																	47746765		2203	4300	6503	SO:0001583	missense	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1365G>T	1.37:g.47746765C>A	ENSP00000353544:p.Leu455Phe		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.L455F	ENST00000360380.3	37	c.1365	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595688	0.46318	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.49139	2.14;2.14;2.15;2.13;2.14;0.79	5.05	3.04	0.35103	.	0.784338	0.11241	N	0.584655	T	0.46367	0.1389	L	0.34521	1.04	0.09310	N	1	D;D;D;D;D	0.67145	0.989;0.996;0.989;0.989;0.989	P;P;P;P;P	0.61201	0.885;0.885;0.885;0.885;0.885	T	0.31166	-0.9953	10	0.24483	T	0.36	-0.2908	2.6913	0.05121	0.3891:0.3656:0.0:0.2454	.	455;408;455;455;455	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	F	455;455;455;455;455;408	ENSP00000353544:L455F;ENSP00000337367:L455F;ENSP00000360944:L455F;ENSP00000379523:L455F;ENSP00000243182:L455F;ENSP00000411664:L408F	ENSP00000243182:L455F	L	-	3	2	STIL	47519352	0.000000	0.05858	0.158000	0.22627	0.948000	0.59901	-0.323000	0.07997	1.364000	0.46038	0.591000	0.81541	TTG	STIL	-	NULL	ENSG00000123473		0.423	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	-	0	77	0	C	NM_003035		47746765	-1	tier1	-	no_errors	ENST00000371877	ensembl	human	known	74_37	missense	32.22	61	29	SNP	0.000	A	A	47746765	C	A	47746765	3	1	31	1	0	0	0	0	1	0	0	0	15329	825	29	3	2525	3	STIL	1	47746765	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	982771	47746765	201503856	6	7361											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74835185	74835185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcagtttgtgggtgcttGcttgaatgatcccagccagt	8	14	11	8	0	1	2	1	2	0	0	2	2	2	2	2	1	3	3	2	1	2	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:74835185G>T	ENST00000370899.3	+	18	1923	c.1886G>T	c.(1885-1887)tGc>tTc	p.C629F	TNNI3K_ENST00000370891.2_Missense_Mutation_p.C629F|TNNI3K_ENST00000326637.3_Missense_Mutation_p.C528F|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.C629F|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.C642F|RP11-439H8.4_ENST00000415549.2_RNA	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.C528F(1)									GTGGGTGCTTGCTTGAATGAT	0.468																																																	1	Substitution - Missense(1)	lung(1)											252	220	231					1																	74835185		2203	4300	6503	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1886G>T	1.37:g.74835185G>T	ENSP00000359936:p.Cys629Phe			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C642F	ENST00000370899.3	37	c.1925		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.398236|4.398236	0.83120|0.83120	.|.	.|.	ENSG00000116783|ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000526236;ENST00000525480|ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	.|D;D;D;D;D;D	.|0.84442	.|-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.27|5.27	5.27|5.27	0.74061|0.74061	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89501|0.89501	0.6733|0.6733	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.994	.|D;D;D;P	.|0.72338	.|0.977;0.961;0.961;0.808	D|D	0.90471|0.90471	0.4453|0.4453	5|10	.|0.87932	.|D	.|0	.|.	18.8831|18.8831	0.92364|0.92364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|528;629;629;629	.|Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	.|TNI3K_HUMAN;.;.;.	S|F	75;48|629;629;629;629;528;52	.|ENSP00000359936:C629F;ENSP00000359932:C629F;ENSP00000450895:C629F;ENSP00000359928:C629F;ENSP00000322251:C528F;ENSP00000434975:C52F	.|ENSP00000322251:C528F	A|C	+|+	1|2	0|0	AC093158.1|RP11-653A5.2;AC093158.1	74607773|74607773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.488000|7.488000	0.81441|0.81441	2.449000|2.449000	0.82847|0.82847	0.561000|0.561000	0.74099|0.74099	GCT|TGC	FPGT-TNNI3K	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000259030		0.468	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3		0	54	0	G			74835185	1			no_errors	ENST00000557284	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	74835185	G	T	74835185	3	4	31	1	0	0	0	0	1	0	0	0	16376	1319	46	3	2000	3	TNNI3K	1	74835185	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	27088420	74835185	174415436	7	7362											
LPHN2	23266	genome.wustl.edu	37	chr1	82409141	82409141	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccagctgaatccatacactCttcgatttgaagcaacgtgg	11	10	9	11	2	1	2	0	2	1	0	3	3	2	2	2	1	4	2	2	1	4	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:82409141C>G	ENST00000370728.1	+	8	1531	c.886C>G	c.(886-888)Ctt>Gtt	p.L296V	LPHN2_ENST00000394879.1_Missense_Mutation_p.L296V|LPHN2_ENST00000370730.1_Missense_Mutation_p.L296V|LPHN2_ENST00000370713.1_Missense_Mutation_p.L296V|LPHN2_ENST00000370717.2_Missense_Mutation_p.L296V|LPHN2_ENST00000271029.4_Missense_Mutation_p.L296V|LPHN2_ENST00000319517.6_Missense_Mutation_p.L296V|LPHN2_ENST00000359929.3_Missense_Mutation_p.L296V|LPHN2_ENST00000335786.5_Missense_Mutation_p.L296V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.L296V|LPHN2_ENST00000370715.1_Missense_Mutation_p.L296V|LPHN2_ENST00000370723.1_Missense_Mutation_p.L296V|LPHN2_ENST00000370721.1_Missense_Mutation_p.L300V|LPHN2_ENST00000370727.1_Missense_Mutation_p.L296V			O95490	LPHN2_HUMAN	latrophilin 2	296	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCATACACTCTTCGATTTGA	0.413																																																	0													133	123	126					1																	82409141		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.886C>G	1.37:g.82409141C>G	ENSP00000359763:p.Leu296Val		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.L296V	ENST00000370728.1	37	c.886		1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678694	0.68042	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94793	-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52;-3.52	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98166	0.9394	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.99029	1.0820	10	0.87932	D	0	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	296;296;296	O95490-3;O95490-4;O95490-2	.;.;.	V	300;296;296;296;296;296;296;296;296;296;296;296;296;296	ENSP00000359756:L300V;ENSP00000359763:L296V;ENSP00000359765:L296V;ENSP00000359762:L296V;ENSP00000359760:L296V;ENSP00000359758:L296V;ENSP00000353006:L296V;ENSP00000359750:L296V;ENSP00000359748:L296V;ENSP00000322270:L296V;ENSP00000359752:L296V;ENSP00000378344:L296V;ENSP00000271029:L296V;ENSP00000337306:L296V	ENSP00000271029:L296V	L	+	1	0	LPHN2	82181729	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.725000	0.68507	2.591000	0.87537	0.455000	0.32223	CTT	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000117114		0.413	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	34	0	C	NM_012302		82409141	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	G	G	82409141	C	G	82409141	3	3	31	1	0	0	0	0	1	0	0	0	8951	913	32	5	900	5	LPHN2	1	82409141	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	7573956	82409141	166841480	8	7363											
ODF2L	57489	genome.wustl.edu	37	chr1	86848664	86848664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggatatgggcctccttttCaaataccttcttcttaagat	9	17	6	9	0	3	1	1	0	2	1	4	2	4	2	3	2	1	0	3	2	4	8			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:86848664C>T	ENST00000359242.3	-	6	738	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	ODF2L_ENST00000294678.2_Missense_Mutation_p.E153K|ODF2L_ENST00000370566.3_Missense_Mutation_p.E153K|ODF2L_ENST00000394731.1_Missense_Mutation_p.E22K|ODF2L_ENST00000370567.1_Missense_Mutation_p.E153K|ODF2L_ENST00000317336.7_Missense_Mutation_p.E153K	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	153						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GCCTCCTTTTCAAATACCTTC	0.299																																																	0													57	63	61					1																	86848664		2203	4297	6500	SO:0001583	missense	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.457G>A	1.37:g.86848664C>T	ENSP00000359600:p.Glu153Lys		A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Missense_Mutation	SNP	NULL	p.E153K	ENST00000359242.3	37	c.457	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987049	0.74589	.	.	ENSG00000122417	ENST00000441121;ENST00000370566;ENST00000359242;ENST00000460698;ENST00000317336;ENST00000370567;ENST00000394731;ENST00000457680;ENST00000294678;ENST00000479890;ENST00000394733;ENST00000465959	T;T;T;T;T;T;T;T;T	0.61627	1.67;1.64;1.73;1.66;1.65;1.72;1.66;1.41;0.09	5.59	5.59	0.84812	.	0.049368	0.85682	D	0.000000	T	0.66973	0.2844	M	0.70275	2.135	0.47584	D	0.999464	D;D;D;D;D;D	0.89917	1.0;0.992;0.993;0.993;0.998;0.993	D;P;P;D;D;D	0.87578	0.998;0.811;0.851;0.909;0.91;0.932	T	0.60652	-0.7221	10	0.15499	T	0.54	-11.175	17.4501	0.87589	0.0:1.0:0.0:0.0	.	153;153;153;153;153;153	B4E037;B4DZ83;Q9ULJ1-2;Q9ULJ1-4;Q9ULJ1-3;Q9ULJ1	.;.;.;.;.;ODF2L_HUMAN	K	153;153;153;29;153;153;22;22;153;22;22;153	ENSP00000359597:E153K;ENSP00000359600:E153K;ENSP00000433092:E29K;ENSP00000320165:E153K;ENSP00000359598:E153K;ENSP00000378219:E22K;ENSP00000294678:E153K;ENSP00000432834:E22K;ENSP00000378220:E22K	ENSP00000294678:E153K	E	-	1	0	ODF2L	86621252	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.010000	0.40913	2.783000	0.95769	0.655000	0.94253	GAA	ODF2L	-	NULL	ENSG00000122417		0.299	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	-	0	105	0	C			86848664	-1	tier1	-	no_errors	ENST00000317336	ensembl	human	known	74_37	missense	12.96	92	14	SNP	1.000	T	T	86848664	C	T	86848664	3	4	31	1	0	0	0	0	1	0	0	0	10867	835	29	3	1681	3	ODF2L	1	86848664	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	4439523	86848664	162401957	9	7364											
GLMN	11146	genome.wustl.edu	37	chr1	92713443	92713443	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacattaccaaccttggctaTttttaatttctgcttcataa	11	17	3	10	0	2	0	1	0	1	0	2	0	2	0	2	1	3	2	2	1	5	9			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:92713443T>A	ENST00000370360.3	-	17	1658	c.1577A>T	c.(1576-1578)aAt>aTt	p.N526I	GLMN_ENST00000534881.1_Missense_Mutation_p.N512I	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	526					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ACCTTGGCTATTTTTAATTTC	0.279									Multiple Glomus Tumors (of the Skin), Familial																																								0													87	95	92					1																	92713443		2202	4291	6493	SO:0001583	missense	0	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"venous malformation with glomus cells"	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1577A>T	1.37:g.92713443T>A	ENSP00000359385:p.Asn526Ile		Q5VVC3|Q9BVE8	Missense_Mutation	SNP	pfam_YAP-bd/Alf4/glomulin	p.N526I	ENST00000370360.3	37	c.1577	CCDS738.1	1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951211	0.73787	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.48522	0.82;0.81	6.03	3.61	0.41365	.	0.330942	0.38326	N	0.001727	T	0.40862	0.1134	L	0.54323	1.7	0.40992	D	0.984864	P;P	0.51147	0.942;0.927	P;P	0.52189	0.692;0.596	T	0.39272	-0.9622	10	0.56958	D	0.05	-9.949	9.5222	0.39143	0.0:0.0653:0.1224:0.8123	.	512;526	B4DJ85;Q92990	.;GLMN_HUMAN	I	526;512	ENSP00000359385:N526I;ENSP00000440156:N512I	ENSP00000359385:N526I	N	-	2	0	GLMN	92486031	0.997000	0.39634	0.988000	0.46212	0.924000	0.55760	1.743000	0.38258	2.308000	0.77769	0.533000	0.62120	AAT	GLMN	-	pfam_YAP-bd/Alf4/glomulin	ENSG00000174842		0.279	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLMN	HGNC	protein_coding	OTTHUMT00000028358.1	-	0	125	0	T	NM_007070		92713443	-1	tier1	-	no_errors	ENST00000370360	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.996	A	A	92713443	T	A	92713443	3	1	31	1	0	0	0	0	1	0	0	0	6474	1493	52	5	219	5	GLMN	1	92713443	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	5864779	92713443	156537178	10	7365											
SYT6	148281	genome.wustl.edu	37	chr1	114640468	114640468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcagtgatccccacacGacagactcctatgatctcat	11	10	6	14	1	2	3	2	2	1	1	5	4	4	3	3	0	1	1	3	0	1	2	rs150717431		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:114640468G>T	ENST00000610222.1	-	6	1542	c.1396C>A	c.(1396-1398)Cgt>Agt	p.R466S	SYT6_ENST00000607941.1_Missense_Mutation_p.R381S|SYT6_ENST00000393296.1_Missense_Mutation_p.R466S|SYT6_ENST00000609117.1_Missense_Mutation_p.R381S|SYT6_ENST00000369547.1_Missense_Mutation_p.R381S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	466	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCCCCACACGACAGACTCCT	0.582																																																	0													97	88	91					1																	114640468		2203	4300	6503	SO:0001583	missense	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1396C>A	1.37:g.114640468G>T	ENSP00000476396:p.Arg466Ser		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R466S	ENST00000610222.1	37	c.1396		1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201046	0.58234	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.37	4.43	0.53597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	N	0.21583	0.68	0.80722	D	1	D;D	0.65815	0.995;0.988	D;P	0.70716	0.97;0.839	T	0.62826	-0.6772	10	0.21014	T	0.42	.	14.9431	0.71009	0.0:0.0:0.8517:0.1483	.	466;381	Q5T7P8;Q5T7P8-2	SYT6_HUMAN;.	S	381;466;381;466	ENSP00000358560:R381S;ENSP00000376974:R466S;ENSP00000358559:R381S;ENSP00000358558:R466S	ENSP00000358558:R466S	R	-	1	0	SYT6	114441991	1.000000	0.71417	0.920000	0.36463	0.828000	0.46876	4.453000	0.60061	1.192000	0.43071	0.462000	0.41574	CGT	SYT6	-	superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000134207		0.582	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2		0	73	0	G	NM_205848		114640468	-1			no_errors	ENST00000393296	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.997	T	T	114640468	G	T	114640468	3	4	31	1	0	0	0	0	1	0	0	0	15525	1058	37	2	144	2	SYT6	1	114640468	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	21927025	114640468	134610153	11	7366											
TXNIP	10628	genome.wustl.edu	37	chr1	145440123	145440123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctgctcgaattgacaGaaaaggattctgtgaaggta	12	12	11	6	1	2	3	0	2	2	1	4	5	2	4	0	2	1	2	0	2	5	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:145440123G>T	ENST00000369317.4	+	4	891	c.557G>T	c.(556-558)aGa>aTa	p.R186I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	186					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGAATTGACAGAAAAGGATTC	0.458																																																	0													141	154	150					1																	145440123		2203	4300	6503	SO:0001583	missense	0			S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"upregulated by 1,25-dihydroxyvitamin D-3", "thioredoxin binding protein 2"	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.557G>T	1.37:g.145440123G>T	ENSP00000358323:p.Arg186Ile		B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.R186I	ENST00000369317.4	37	c.557	CCDS913.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614248	0.46631	.	.	ENSG00000117289	ENST00000369317;ENST00000425134	T;T	0.21031	2.03;2.03	5.17	4.26	0.50523	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.052617	0.64402	D	0.000001	T	0.13927	0.0337	L	0.43923	1.385	0.80722	D	1	P;B	0.44260	0.83;0.229	P;B	0.46940	0.532;0.104	T	0.01574	-1.1321	10	0.51188	T	0.08	-13.5966	11.6599	0.51341	0.0861:0.0:0.9139:0.0	.	131;186	B4E3D3;Q9H3M7	.;TXNIP_HUMAN	I	186;131	ENSP00000358323:R186I;ENSP00000396322:R131I	ENSP00000358323:R186I	R	+	2	0	TXNIP	144151480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.091000	0.76923	1.418000	0.47098	-0.156000	0.13503	AGA	TXNIP	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000117289		0.458	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNIP	HGNC	protein_coding	OTTHUMT00000038547.1	-	0	63	0	G	NM_006472		145440123	1	tier1	-	no_errors	ENST00000369317	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	T	T	145440123	G	T	145440123	3	4	31	1	0	0	0	0	1	0	0	0	16852	942	33	3	571	3	TXNIP	1	145440123	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	30799655	145440123	103810498	12	7367											
UFC1	51506	genome.wustl.edu	37	chr1	161123890	161123890	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgcagcgactgaaggagGaatatcagtcccttatccgg	10	8	14	9	2	1	1	1	1	0	0	3	4	3	3	2	4	2	1	2	4	4	2	rs182746901		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:161123890G>T	ENST00000368003.5	+	1	349	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	UFC1_ENST00000473766.1_3'UTR|RP11-297K8.2_ENST00000420498.1_RNA	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	35					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	extracellular vesicular exosome (GO:0070062)	UFM1 conjugating enzyme activity (GO:0071568)			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ACTGAAGGAGGAATATCAGTC	0.537																																																	0													183	159	167					1																	161123890		2203	4300	6503	SO:0001587	stop_gained	0			AF161504	CCDS1220.1	1q23.3	2008-02-05			ENSG00000143222	ENSG00000143222			26941	protein-coding gene	gene with protein product		610554				15071506, 11042152	Standard	NM_016406		Approved	HSPC155	uc001fyd.4	Q9Y3C8	OTTHUMG00000033155	ENST00000368003.5:c.103G>T	1.37:g.161123890G>T	ENSP00000356982:p.Glu35*		A8K9R1|D3DVF9|Q549X0|Q5VTX1|Q9BS96|Q9P009	Nonsense_Mutation	SNP	pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1	p.E35*	ENST00000368003.5	37	c.103	CCDS1220.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.643173	0.98406	.	.	ENSG00000143222	ENST00000368003	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-18.5876	19.289	0.94090	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000356982:E35X	E	+	1	0	UFC1	159390514	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.715000	0.91416	2.852000	0.98041	0.644000	0.83932	GAA	UFC1	-	pfam_Ufc1,superfamily_UBQ-conjugating_enzyme/RWD,pirsf_Ufc1	ENSG00000143222		0.537	UFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFC1	HGNC	protein_coding	OTTHUMT00000080810.1	-	0	93	0	G	NM_016406		161123890	1	tier1	-	no_errors	ENST00000368003	ensembl	human	known	74_37	nonsense	58.49	43	62	SNP	1.000	T	T	161123890	G	T	161123890	4	4	31	1	0	0	0	0	0	1	0	0	16983	1175	41	3	105	3	UFC1	1	161123890	Nonsense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	15683767	161123890	88126731	13	7368											
TADA1	117143	genome.wustl.edu	37	chr1	166831610	166831610	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatcctttgccacaaattGctgggctcctgagagaggat	9	10	13	9	0	0	2	0	1	0	1	2	5	2	4	3	3	2	2	3	3	1	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:166831610G>A	ENST00000367874.4	-	5	463	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	124					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						GCCACAAATTGCTGGGCTCCT	0.413																																																	0													110	100	103					1																	166831610		2203	4300	6503	SO:0001587	stop_gained	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.370C>T	1.37:g.166831610G>A	ENSP00000356848:p.Gln124*		A8K4J9	Nonsense_Mutation	SNP	superfamily_Histone-fold	p.Q124*	ENST00000367874.4	37	c.370	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.409770	0.97546	.	.	ENSG00000152382	ENST00000367874	.	.	.	6.16	5.25	0.73442	.	0.116646	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-5.0763	15.5252	0.75898	0.0:0.1383:0.8617:0.0	.	.	.	.	X	124	.	ENSP00000356848:Q124X	Q	-	1	0	TADA1	165098234	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.377000	0.79668	1.615000	0.50252	0.650000	0.86243	CAA	TADA1	-	NULL	ENSG00000152382		0.413	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	-	0	78	0	G	NM_053053		166831610	-1	tier1	-	no_errors	ENST00000367874	ensembl	human	known	74_37	nonsense	15.19	67	12	SNP	1.000	A	A	166831610	G	A	166831610	4	1	31	1	0	0	0	0	0	1	0	0	15556	1328	46	3	653	3	TADA1	1	166831610	Nonsense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	5707720	166831610	82419011	14	7369											
DUSP27	92235	genome.wustl.edu	37	chr1	167096645	167096645	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatgaaggcagtaccagcGgctagctgcctgggggatga	10	6	16	9	1	0	2	0	2	0	0	0	3	0	3	2	4	5	5	2	4	3	2	rs139214807		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:167096645G>A	ENST00000361200.2	+	6	2443	c.2277G>A	c.(2275-2277)gcG>gcA	p.A759A	DUSP27_ENST00000443333.1_Silent_p.A759A|DUSP27_ENST00000271385.5_Silent_p.A759A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	759					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGTACCAGCGGCTAGCTGCC	0.562																																																	0													80	67	71					1																	167096645		2203	4300	6503	SO:0001819	synonymous_variant	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2277G>A	1.37:g.167096645G>A			A0AUM4|Q9C074	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.A759	ENST00000361200.2	37	c.2277	CCDS30932.1	1																																																																																			DUSP27	-	NULL	ENSG00000198842		0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	-	0	37	0	G	NM_001080426		167096645	1	tier1	-	no_errors	ENST00000271385	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.001	A	A	167096645	G	A	167096645	2	1	31	1	0	0	0	0	0	0	0	1	4838	1103	39	1		1	DUSP27	1	167096645	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	265035	167096645	82153976	15	7370											
C1orf129	80133	genome.wustl.edu	37	chr1	170985417	170985417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttttaaacgaactggaCaaagtgacctactctttggg	12	11	10	8	1	1	1	0	1	1	0	1	3	1	2	1	3	3	1	1	3	5	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:170985417C>G	ENST00000367759.4	+	17	2002	c.1848C>G	c.(1846-1848)gaC>gaG	p.D616E		NM_001163629.1	NP_001157101.1	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	0																	ACGAACTGGACAAAGTGACCT	0.418																																																	0													174	142	151					1																	170985417		692	1591	2283	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367759.4:c.1848C>G	1.37:g.170985417C>G	ENSP00000356733:p.Asp616Glu		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D616E	ENST00000367759.4	37	c.1848	CCDS53429.1	1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.906644	0.72868	.	.	ENSG00000117501	ENST00000367759	T	0.66280	-0.2	5.26	4.33	0.51752	.	.	.	.	.	T	0.49098	0.1537	L	0.27053	0.805	0.25039	N	0.991214	D	0.65815	0.995	P	0.60886	0.88	T	0.30707	-0.9969	9	0.28530	T	0.3	.	10.3367	0.43854	0.0:0.9045:0.0:0.0955	.	616	F5GWX6	.	E	616	ENSP00000356733:D616E	ENSP00000356733:D616E	D	+	3	2	C1orf129	169252041	0.989000	0.36119	0.989000	0.46669	0.016000	0.09150	0.780000	0.26760	2.614000	0.88457	0.555000	0.69702	GAC	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.418	MROH9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH9	HGNC	protein_coding		-	0	104	0	C	NM_025063		170985417	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	30.00	90	39	SNP	0.994	G	G	170985417	C	G	170985417	3	3	31	1	0	0	0	0	1	0	0	0	2003	477	17	5	2036	5	C1orf129	1	170985417	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	3888772	170985417	78265204	16	7371											
C1orf105	92346	genome.wustl.edu	37	chr1	172414300	172414300	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcagccttcccagaaggTaacctctcagccaccgaggg	9	7	10	15	1	2	1	2	0	1	1	4	2	3	1	5	2	4	2	5	2	2	2	rs371586803		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:172414300T>C	ENST00000367727.4	+	2	305		c.e2+2		PIGC_ENST00000344529.4_5'Flank|PIGC_ENST00000258324.1_5'Flank|PIGC_ENST00000367728.1_5'Flank|PIGC_ENST00000484368.1_5'Flank	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105											large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TCCCAGAAGGTAACCTCTCAG	0.448																																																	0													65	66	66					1																	172414300		2203	4300	6503	SO:0001630	splice_region_variant	0			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.107+2T>C	1.37:g.172414300T>C			Q8IY02	Splice_Site	SNP	-	e2+2	ENST00000367727.4	37	c.107+2	CCDS1301.1	1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.695764	0.30052	.	.	ENSG00000180999	ENST00000367727;ENST00000488100	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7123	0.40254	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf105	170680923	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	2.978000	0.49305	2.059000	0.61396	0.533000	0.62120	.	C1orf105	-	-	ENSG00000180999		0.448	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	HGNC	protein_coding	OTTHUMT00000084062.2	-	0	59	0	T	NM_139240	Intron	172414300	1	tier1	-	no_errors	ENST00000367727	ensembl	human	known	74_37	splice_site	24.56	43	14	SNP	1.000	C	C	172414300	T	C	172414300	5	2	31	1	0	0	0	0	0	0	1	0	1986	1652	57	4	115	4	C1orf105	1	172414300	Splice_Site	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	1428883	172414300	76836321	17	7372											
KIAA1614	57710	genome.wustl.edu	37	chr1	180904863	180904863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaccgtgtgccctgcGgaggtggactctgccctgga	6	7	16	12	2	1	1	0	0	1	1	1	5	1	4	3	5	3	0	3	5	0	0	rs377007881		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:180904863G>A	ENST00000367588.4	+	5	1873	c.1818G>A	c.(1816-1818)gcG>gcA	p.A606A	KIAA1614_ENST00000367587.1_Silent_p.A227A	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	606										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TGTGCCCTGCGGAGGTGGACT	0.652																																																	0										2,4346		0,2,2172	26	31	29		1818	-1.3	0	1		29	0,8512		0,0,4256	no	coding-synonymous	KIAA1614	NM_020950.1		0,2,6428	AA,AG,GG		0.0,0.046,0.0156		606/1191	180904863	2,12858	2174	4256	6430	SO:0001819	synonymous_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1818G>A	1.37:g.180904863G>A			Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.A606	ENST00000367588.4	37	c.1818	CCDS41442.1	1																																																																																			KIAA1614	-	NULL	ENSG00000135835		0.652	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	-	0	48	0	G	XM_046531		180904863	1	tier1	-	no_errors	ENST00000367588	ensembl	human	known	74_37	silent	14.04	49	8	SNP	0.188	A	A	180904863	G	A	180904863	2	1	31	1	0	0	0	0	0	0	0	1	8275	1103	39	1		1	KIAA1614	1	180904863	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	8490563	180904863	68345758	18	7373											
CFH	3075	genome.wustl.edu	37	chr1	196694303	196694303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacttagttcctgatcgcaaGaaagaccagtataaagttgg	14	10	9	8	1	0	3	0	1	0	2	2	3	1	3	2	1	0	4	2	1	6	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:196694303G>C	ENST00000367429.4	+	12	1989	c.1749G>C	c.(1747-1749)aaG>aaC	p.K583N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	583	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGATCGCAAGAAAGACCAGT	0.348																																																	0													77	67	70					1																	196694303		2203	4300	6503	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1749G>C	1.37:g.196694303G>C	ENSP00000356399:p.Lys583Asn		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K583N	ENST00000367429.4	37	c.1749	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634575	0.47049	.	.	ENSG00000000971	ENST00000367429	T	0.64618	-0.11	5.74	-2.88	0.05682	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.44808	0.1311	L	0.50333	1.59	0.09310	N	1	B	0.30634	0.288	B	0.22880	0.042	T	0.24119	-1.0169	9	0.17832	T	0.49	.	5.4073	0.16328	0.4395:0.2569:0.3036:0.0	.	583	P08603	CFAH_HUMAN	N	583	ENSP00000356399:K583N	ENSP00000356399:K583N	K	+	3	2	CFH	194960926	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.443000	0.06862	-0.767000	0.04633	-0.903000	0.02851	AAG	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.348	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0	50	0	G	NM_000186		196694303	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	10.61	59	7	SNP	0.000	C	C	196694303	G	C	196694303	3	2	31	1	0	0	0	0	1	0	0	0	3290	933	33	5	1813	5	CFH	1	196694303	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	15789440	196694303	52556318	19	7374											
SLC30A10	55532	genome.wustl.edu	37	chr1	220101732	220101732	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgaagaaggcgacggtGagcaccagcatgaagagcag	14	2	15	10	3	0	4	0	2	0	2	0	6	0	4	2	2	3	3	2	2	3	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:220101732G>T	ENST00000366926.3	-	1	212	c.51C>A	c.(49-51)ctC>ctA	p.L17L	SLC30A10_ENST00000536992.1_Silent_p.L17L|SLC30A10_ENST00000536446.1_Intron	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	17					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGGCGACGGTGAGCACCAGCA	0.687																																					Colon(76;360 1614 43677 51136)												0													39	45	43					1																	220101732		2203	4298	6501	SO:0001819	synonymous_variant	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.51C>A	1.37:g.220101732G>T			Q49AL9|Q9NPW0	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L17	ENST00000366926.3	37	c.51	CCDS31026.1	1																																																																																			SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000196660		0.687	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	-	0	32	0	G	NM_018713		220101732	-1	tier1	-	no_errors	ENST00000366926	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	220101732	G	T	220101732	2	4	31	1	0	0	0	0	0	0	0	1	14599	1277	45	3		3	SLC30A10	1	220101732	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	23407429	220101732	29148889	20	7375											
EPRS	2058	genome.wustl.edu	37	chr1	220160602	220160602	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgaggcttattctgctTttcagatttattttcttttt	5	25	5	6	0	4	2	1	1	3	1	4	2	4	2	0	1	1	2	0	1	2	11			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:220160602T>A	ENST00000366923.3	-	20	3189	c.2920A>T	c.(2920-2922)Aag>Tag	p.K974*	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	974	Charged.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTATTCTGCTTTTCAGATTTA	0.433																																																	0													99	93	95					1																	220160602		2203	4300	6503	SO:0001587	stop_gained	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2920A>T	1.37:g.220160602T>A	ENSP00000355890:p.Lys974*		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Nonsense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.K974*	ENST00000366923.3	37	c.2920	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	T	44	11.131186	0.99520	.	.	ENSG00000136628	ENST00000366923	.	.	.	5.9	5.9	0.94986	.	0.045918	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.9345	16.3245	0.82970	0.0:0.0:0.0:1.0	.	.	.	.	X	974	.	ENSP00000355890:K974X	K	-	1	0	EPRS	218227225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.740000	0.84986	2.254000	0.74563	0.460000	0.39030	AAG	EPRS	-	NULL	ENSG00000136628		0.433	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	-	0	30	0	T	NM_004446		220160602	-1	tier1	-	no_errors	ENST00000366923	ensembl	human	known	74_37	nonsense	48.68	39	37	SNP	1.000	A	A	220160602	T	A	220160602	4	1	31	1	0	0	0	0	0	1	0	0	5207	1850	64	5	1670	5	EPRS	1	220160602	Nonsense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	58870	220160602	29090019	21	7376											
OR2T8	343172	genome.wustl.edu	37	chr1	248084839	248084839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtgcacacgagatcgatCacttcttctgcgagaccccc	8	8	10	15	4	3	2	1	0	2	2	4	5	3	2	2	1	2	1	2	1	0	2	rs200305171		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:248084839C>T	ENST00000319968.4	+	1	520	c.520C>T	c.(520-522)Cac>Tac	p.H174Y		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGAGATCGATCACTTCTTCTG	0.557																																																	0													53	38	43					1																	248084839		2193	4267	6460	SO:0001583	missense	0				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.520C>T	1.37:g.248084839C>T	ENSP00000326225:p.His174Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H174Y	ENST00000319968.4	37	c.520	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481738	0.44147	.	.	ENSG00000177462	ENST00000319968	T	0.00183	8.6	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36303	U	0.002679	T	0.00356	0.0011	M	0.87827	2.91	0.28837	N	0.896819	B	0.25105	0.118	B	0.33392	0.163	T	0.02437	-1.1159	10	0.87932	D	0	.	13.6463	0.62283	0.0:1.0:0.0:0.0	.	174	A6NH00	OR2T8_HUMAN	Y	174	ENSP00000326225:H174Y	ENSP00000326225:H174Y	H	+	1	0	OR2T8	246151462	0.002000	0.14202	0.048000	0.18961	0.326000	0.28443	0.217000	0.17603	1.709000	0.51313	0.404000	0.27445	CAC	OR2T8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000177462		0.557	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	-	0	33	0	C	NM_001005522		248084839	1	tier1	rs200305171	no_errors	ENST00000319968	ensembl	human	known	74_37	missense	9.68	56	6	SNP	0.579	T	T	248084839	C	T	248084839	3	4	31	1	0	0	0	0	1	0	0	0	11069	826	29	3	522	3	OR2T8	1	248084839	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	27924237	248084839	1165782	22	7377											
OR2T33	391195	genome.wustl.edu	37	chr1	248436938	248436938	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggaaagttggctcaggAggaagtacatgggcgtgtgg	10	8	19	4	1	1	1	1	1	0	0	1	4	1	4	0	6	1	3	0	6	3	2	rs544654849		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr1:248436938A>C	ENST00000318021.2	-	1	200	c.179T>G	c.(178-180)cTc>cGc	p.L60R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L60P(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTGGCTCAGGAGGAAGTACAT	0.532													a|||	1	0.000199681	0	0	5008	,	,		16079	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											83	75	78					1																	248436938		2202	4300	6502	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.179T>G	1.37:g.248436938A>C	ENSP00000324687:p.Leu60Arg		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L60R	ENST00000318021.2	37	c.179	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	17.60	3.430930	0.62844	.	.	ENSG00000177212	ENST00000318021	T	0.03181	4.02	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.311215	0.17524	U	0.171116	T	0.24851	0.0603	H	0.95504	3.68	0.38338	D	0.943983	D	0.89917	1.0	D	0.79108	0.992	T	0.33904	-0.9850	10	0.87932	D	0	.	10.997	0.47582	1.0:0.0:0.0:0.0	.	60	Q8NG76	O2T33_HUMAN	R	60	ENSP00000324687:L60R	ENSP00000324687:L60R	L	-	2	0	OR2T33	246503561	1.000000	0.71417	0.726000	0.30738	0.923000	0.55619	6.784000	0.75084	1.178000	0.42870	0.404000	0.27445	CTC	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177212		0.532	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0	86	0	A	NM_001004695		248436938	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	21.13	56	15	SNP	0.840	C	C	248436938	A	C	248436938	3	2	31	1	0	0	0	0	1	0	0	0	11063	304	11	4	786	4	OR2T33	1	248436938	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	352099	248436938	813683	23	7378											
KIF3C	3797	genome.wustl.edu	37	chr2	26203716	26203716	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggctcggttggcaaaGcgcaaggtggagaggctctc	7	10	15	9	2	2	1	0	0	2	1	4	2	2	1	0	6	1	5	0	6	2	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:26203716G>C	ENST00000264712.3	-	1	1650	c.1071C>G	c.(1069-1071)cgC>cgG	p.R357R	KIF3C_ENST00000405914.1_Silent_p.R357R	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	357	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTGGCAAAGCGCAAGGTGG	0.592																																																	0													90	82	85					2																	26203716		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1071C>G	2.37:g.26203716G>C			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R357	ENST00000264712.3	37	c.1071	CCDS1719.1	2																																																																																			KIF3C	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000084731		0.592	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	-	0	94	0	G			26203716	-1	tier1	-	no_errors	ENST00000264712	ensembl	human	known	74_37	silent	6.40	117	8	SNP	1.000	C	C	26203716	G	C	26203716	2	2	31	1	0	0	0	0	0	0	0	1	8329	958	34	5		5	KIF3C	2	26203716	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		26203716	216995657	24	7379											
SLC8A1	6546	genome.wustl.edu	37	chr2	40656660	40656660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtaaaacagaagtctcCtatccgctacccaagcgaac	14	8	6	13	2	1	1	0	0	1	1	3	2	2	1	3	0	4	2	3	0	7	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:40656660C>A	ENST00000403092.1	-	2	794	c.761G>T	c.(760-762)aGg>aTg	p.R254M	SLC8A1_ENST00000405269.1_Missense_Mutation_p.R254M|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R254M|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R254M|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R254M|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R254M|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R254M|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R254M|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R254M|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R254M			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	254	Calmodulin-binding. {ECO:0000255}.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CAGAAGTCTCCTATCCGCTAC	0.448																																																	0													97	98	98					2																	40656660		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.761G>T	2.37:g.40656660C>A	ENSP00000384763:p.Arg254Met		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.R254M	ENST00000403092.1	37	c.761	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892285	0.33442	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.32023	1.49;1.52;1.52;1.52;1.49;1.49;1.52;1.47;1.49;1.49	5.96	5.09	0.68999	.	0.044679	0.85682	D	0.000000	T	0.61022	0.2314	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.996;0.982;0.992	T	0.68780	-0.5318	10	0.72032	D	0.01	.	12.9583	0.58442	0.0:0.9223:0.0:0.0777	.	254;254;254;254;254	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	M	254	ENSP00000383886:R254M;ENSP00000440727:R254M;ENSP00000384763:R254M;ENSP00000385678:R254M;ENSP00000385188:R254M;ENSP00000385535:R254M;ENSP00000332931:R254M;ENSP00000384908:R254M;ENSP00000385811:R254M;ENSP00000443515:R254M	ENSP00000332931:R254M	R	-	2	0	SLC8A1	40510164	1.000000	0.71417	0.977000	0.42913	0.098000	0.18820	7.663000	0.83820	1.540000	0.49301	0.655000	0.94253	AGG	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.448	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0	47	0	C	NM_021097		40656660	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	11.11	72	9	SNP	1.000	A	A	40656660	C	A	40656660	3	1	31	1	0	0	0	0	1	0	0	0	14751	681	24	3	2308	3	SLC8A1	2	40656660	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	14452944	40656660	202542713	25	7380											
SLC3A1	6519	genome.wustl.edu	37	chr2	44513196	44513196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtatggaaactccagttGgcactttgacgaagtgcgaa	11	11	12	7	2	0	1	0	1	0	0	1	4	1	2	1	2	2	3	1	2	4	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:44513196G>C	ENST00000260649.6	+	4	867	c.791G>C	c.(790-792)tGg>tCg	p.W264S	SLC3A1_ENST00000410056.3_Missense_Mutation_p.W264S|SLC3A1_ENST00000409380.1_5'UTR|SLC3A1_ENST00000409741.1_Missense_Mutation_p.W264S|SLC3A1_ENST00000409229.3_Missense_Mutation_p.W264S|SLC3A1_ENST00000409387.1_Missense_Mutation_p.W264S	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	264					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	AACTCCAGTTGGCACTTTGAC	0.378																																																	0													168	161	163					2																	44513196		2203	4300	6503	SO:0001583	missense	0				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.791G>C	2.37:g.44513196G>C	ENSP00000260649:p.Trp264Ser		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.W264S	ENST00000260649.6	37	c.791	CCDS1819.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270599	0.80469	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000427285	D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	4.98	4.98	0.66077	Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99563	0.9843	H	0.98721	4.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.997	D	0.97612	1.0130	10	0.87932	D	0	-10.2983	18.2507	0.90002	0.0:0.0:1.0:0.0	.	264;264;264;264;264	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	S	264;264;200;264;264;264;264;42	ENSP00000260649:W264S;ENSP00000387308:W264S;ENSP00000387337:W264S;ENSP00000386954:W264S;ENSP00000386620:W264S;ENSP00000391642:W42S	ENSP00000260649:W264S	W	+	2	0	SLC3A1	44366700	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.269000	0.95684	2.301000	0.77427	0.591000	0.81541	TGG	SLC3A1	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000138079		0.378	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC3A1	HGNC	protein_coding	OTTHUMT00000250676.1	-	0	45	0	G	NM_000341		44513196	1	tier1	-	no_errors	ENST00000260649	ensembl	human	known	74_37	missense	10.81	66	8	SNP	1.000	C	C	44513196	G	C	44513196	3	2	31	1	0	0	0	0	1	0	0	0	14671	1357	47	5	805	5	SLC3A1	2	44513196	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	3856536	44513196	198686177	26	7381											
EPAS1	2034	genome.wustl.edu	37	chr2	46607509	46607510	+	Frame_Shift_Ins	INS	-	-	A																															cccagcactgcttcagtgccINSatgacaaacatcttccagcc																										TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:46607509_46607510insA	ENST00000263734.3	+	12	2208_2209	c.1698_1699insA	c.(1699-1701)atgfs	p.M567fs		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	567					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTCAGTGCCATGACAAACAT	0.614																																																	0																																										SO:0001589	frameshift_variant	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1699dupA	2.37:g.46607510_46607510dupA	ENSP00000263734:p.Met567fs		Q86VA2|Q99630	Frame_Shift_Ins	INS	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.M566fs	ENST00000263734.3	37	c.1698_1699	CCDS1825.1	2																																																																																			EPAS1	-	NULL	ENSG00000116016		0.614	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2		0	57	0	-	NM_001430		46607510	1	tier1		no_errors	ENST00000263734	ensembl	human	known	74_37	frame_shift_ins	38.98	36	23	INS	1.000:1.000	A	A	46607510	-	A	46607509	7	5	31	1	0	1	1	0	0	0	0	0	5166	581	21	0	1744	0	EPAS1	2	46607509	Frame_Shift_Ins	INS	-	TCGA-IG-A8O2-01A-11D-A36J-09	2094313	46607509	196591864	27	7382											
MSH2	4436	genome.wustl.edu	37	chr2	47702214	47702214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgttagctcagctagatGctgttgtcagctttgctcac	7	15	10	9	0	3	1	3	0	0	1	3	1	3	1	0	0	5	7	0	0	2	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:47702214G>A	ENST00000233146.2	+	12	2033	c.1810G>A	c.(1810-1812)Gct>Act	p.A604T	MSH2_ENST00000543555.1_Missense_Mutation_p.A538T|MSH2_ENST00000406134.1_Missense_Mutation_p.A604T	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	604	Interaction with EXO1.				ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGCTAGATGCTGTTGTCAG	0.373			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	4	Whole gene deletion(2)|Unknown(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)											127	113	117					2																	47702214		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1810G>A	2.37:g.47702214G>A	ENSP00000233146:p.Ala604Thr		B4E2Z2|O75488	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.A604T	ENST00000233146.2	37	c.1810	CCDS1834.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.542253	0.96474	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.91295	-2.82;-2.82;-2.82	5.61	5.61	0.85477	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	D	0.94466	0.8219	L	0.61218	1.895	0.80722	D	1	D;D;P	0.69078	0.997;0.997;0.908	D;D;P	0.65573	0.914;0.936;0.796	D	0.94531	0.7736	10	0.72032	D	0.01	-18.4783	19.6426	0.95764	0.0:0.0:1.0:0.0	.	538;604;604	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	T	604;538;604;604;390	ENSP00000233146:A604T;ENSP00000442697:A538T;ENSP00000384199:A604T	ENSP00000233146:A604T	A	+	1	0	MSH2	47555718	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.006000	0.93592	2.650000	0.89964	0.655000	0.94253	GCT	MSH2	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_MSH2	ENSG00000095002		0.373	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3	-	0	92	0	G			47702214	1	tier1	-	no_errors	ENST00000233146	ensembl	human	known	74_37	missense	33.93	74	38	SNP	1.000	A	A	47702214	G	A	47702214	3	1	31	1	0	0	0	0	1	0	0	0	9908	1319	46	3	1856	3	MSH2	2	47702214	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	1094705	47702214	195497159	28	7383											
C2orf73	129852	genome.wustl.edu	37	chr2	54562094	54562094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattatgctaaattcattaAcacaaatgcaagaacataca	20	11	3	7	0	1	1	1	0	0	1	1	1	1	1	0	0	5	2	0	0	9	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:54562094A>G	ENST00000398634.2	+	2	209	c.167A>G	c.(166-168)aAc>aGc	p.N56S	C2orf73_ENST00000405749.1_Intron|C2orf73_ENST00000491538.1_Intron	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	56										breast(2)	2						AAATTCATTAACACAAATGCA	0.328																																																	0													86	73	77					2																	54562094		1862	4086	5948	SO:0001583	missense	0			BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.167A>G	2.37:g.54562094A>G	ENSP00000381631:p.Asn56Ser		A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	NULL	p.N56S	ENST00000398634.2	37	c.167	CCDS46285.1	2	.	.	.	.	.	.	.	.	.	.	A	6.884	0.532582	0.13127	.	.	ENSG00000177994	ENST00000486488;ENST00000398634	T;T	0.32272	1.46;1.46	4.39	2.02	0.26589	.	0.845751	0.10331	N	0.687587	T	0.19604	0.0471	L	0.34521	1.04	0.20307	N	0.999915	B	0.32160	0.358	B	0.30495	0.116	T	0.20273	-1.0280	10	0.27785	T	0.31	-24.0972	4.5901	0.12302	0.729:0.0:0.0975:0.1735	.	56	Q8N5S3	CB073_HUMAN	S	62;56	ENSP00000417971:N62S;ENSP00000381631:N56S	ENSP00000381631:N56S	N	+	2	0	C2orf73	54415598	0.996000	0.38824	0.975000	0.42487	0.782000	0.44232	2.047000	0.41269	0.793000	0.33875	0.460000	0.39030	AAC	C2orf73	-	NULL	ENSG00000177994		0.328	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf73	HGNC	protein_coding	OTTHUMT00000324075.2	-	0	79	0	A	NM_001100396		54562094	1	tier1	-	no_errors	ENST00000398634	ensembl	human	known	74_37	missense	20.00	68	17	SNP	0.878	G	G	54562094	A	G	54562094	3	3	31	1	0	0	0	0	1	0	0	0	2199	43	2	4	173	4	C2orf73	2	54562094	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	6859880	54562094	188637279	29	7384											
ANKRD36	375248	genome.wustl.edu	37	chr2	97830162	97830162	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagacagagatcacatttCaactagattcttaggaggta	16	10	9	6	0	3	3	2	0	1	3	3	6	3	4	0	2	1	1	0	2	5	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:97830162C>G	ENST00000461153.2	+	20	1731	c.1487C>G	c.(1486-1488)tCa>tGa	p.S496*	ANKRD36_ENST00000420699.2_Nonsense_Mutation_p.S496*			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	496										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GATCACATTTCAACTAGATTC	0.313																																																	0													103	71	81					2																	97830162		692	1590	2282	SO:0001587	stop_gained	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1487C>G	2.37:g.97830162C>G	ENSP00000419530:p.Ser496*		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S496*	ENST00000461153.2	37	c.1487	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	25.1	4.604011	0.87157	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	.	.	.	0.945	0.945	0.19543	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	5.2713	0.15627	0.0:1.0:0.0:0.0	.	.	.	.	X	496	.	ENSP00000391950:S496X	S	+	2	0	ANKRD36	97193889	0.003000	0.15002	0.002000	0.10522	0.135000	0.20990	0.683000	0.25349	0.811000	0.34303	0.184000	0.17185	TCA	ANKRD36	-	NULL	ENSG00000135976		0.313	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	157	0	C			97830162	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	nonsense	7.01	146	11	SNP	0.003	G	G	97830162	C	G	97830162	4	3	31	1	0	0	0	0	0	1	0	0	665	838	29	5	1565	5	ANKRD36	2	97830162	Nonsense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	43268068	97830162	145369211	30	7385											
LCT	3938	genome.wustl.edu	37	chr2	136562471	136562471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaacggtagtgggacaCgcccaggttctgcagggtga	11	6	16	8	2	1	1	0	1	1	0	1	3	1	3	1	5	2	3	1	5	3	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:136562471C>T	ENST00000264162.2	-	10	4340	c.4330G>A	c.(4330-4332)Gtg>Atg	p.V1444M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1444	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TAGTGGGACACGCCCAGGTTC	0.537																																																	0													122	105	111					2																	136562471		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4330G>A	2.37:g.136562471C>T	ENSP00000264162:p.Val1444Met		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.V1444M	ENST00000264162.2	37	c.4330	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	19.28	3.798192	0.70567	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.57273	0.41	5.32	5.32	0.75619	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	L	0.53671	1.685	0.80722	D	1	P	0.51351	0.944	P	0.59357	0.856	T	0.69764	-0.5057	10	0.87932	D	0	-20.0423	19.0251	0.92929	0.0:1.0:0.0:0.0	.	1444	P09848	LPH_HUMAN	M	1444;876	ENSP00000264162:V1444M	ENSP00000264162:V1444M	V	-	1	0	LCT	136278941	1.000000	0.71417	0.326000	0.25389	0.306000	0.27790	7.818000	0.86416	2.493000	0.84123	0.580000	0.79431	GTG	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	115	0	C	NM_002299		136562471	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	19.33	96	23	SNP	1.000	T	T	136562471	C	T	136562471	3	4	31	1	0	0	0	0	1	0	0	0	8721	536	19	1	1485	1	LCT	2	136562471	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	38732309	136562471	106636902	31	7386											
NEB	4703	genome.wustl.edu	37	chr2	152448643	152448643	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttctcccaggcattgcGatacaatggctgggaaaaat	11	11	9	10	1	2	0	0	0	2	0	3	2	2	1	1	3	2	2	1	3	4	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:152448643G>A	ENST00000172853.10	-	78	11749				NEB_ENST00000604864.1_Missense_Mutation_p.R4911C|NEB_ENST00000427231.2_Missense_Mutation_p.R4911C|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.R4911C|NEB_ENST00000397345.3_Missense_Mutation_p.R4911C			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGGCATTGCGATACAATGGC	0.383																																																	0													482	307	360					2																	152448643		692	1591	2283	SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11602-15775C>T	2.37:g.152448643G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R4911C	ENST00000172853.10	37	c.14731		2	.	.	.	.	.	.	.	.	.	.	g	10.99	1.508728	0.27036	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.55930	0.49;0.49	2.65	1.73	0.24493	.	.	.	.	.	T	0.57286	0.2043	M	0.75085	2.285	0.58432	D	0.999998	.	.	.	.	.	.	T	0.55140	-0.8187	7	0.54805	T	0.06	.	3.7817	0.08683	0.1281:0.0:0.4466:0.4253	.	.	.	.	C	4911	ENSP00000380505:R4911C;ENSP00000416578:R4911C	ENSP00000380505:R4911C	R	-	1	0	NEB	152156889	0.002000	0.14202	0.933000	0.37362	0.690000	0.40134	0.550000	0.23345	0.413000	0.25759	0.454000	0.30748	CGC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	326	0	G	NM_004543		152448643	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	10.34	286	33	SNP	0.941	A	A	152448643	G	A	152448643	1	1	31	0	1	0	0	0	0	0	0	0	10341	1058	37	1		1	NEB	2	152448643	Intron	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	15886172	152448643	90750730	32	7387											
CHRNA1	1134	genome.wustl.edu	37	chr2	175614679	175614679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctccccactcaccttccGcacccagttgggcatgacat	7	8	8	18	1	1	1	1	1	0	0	3	1	3	1	6	2	0	3	6	2	0	2	rs374391312		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:175614679G>A	ENST00000261007.5	-	8	1138	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	CHRNA1_ENST00000409542.1_Missense_Mutation_p.R251W|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R333W|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R333W|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	358					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CTCACCTTCCGCACCCAGTTG	0.567																																																	0			GRCh37	CM086805	CHRNA1	M		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	95	79	85		997,1072	3.6	1	2		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHRNA1	NM_000079.3,NM_001039523.2	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	333/458,358/483	175614679	1,13005	2203	4300	6503	SO:0001583	missense	0			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1072C>T	2.37:g.175614679G>A	ENSP00000261007:p.Arg358Trp		B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.R358W	ENST00000261007.5	37	c.1072	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312388	0.60414	0.0	1.16E-4	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.64	3.61	0.41365	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95783	0.8818	10	0.87932	D	0	.	11.9266	0.52823	0.0:0.0:0.4057:0.5943	.	333;358	Q53SH4;P02708	.;ACHA_HUMAN	W	333;358;251;333	ENSP00000261008:R333W;ENSP00000261007:R358W;ENSP00000387026:R251W;ENSP00000386611:R333W	ENSP00000261007:R358W	R	-	1	2	CHRNA1	175322925	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.055000	0.64282	1.315000	0.45114	0.655000	0.94253	CGG	CHRNA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000138435		0.567	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	-	0	35	0	G			175614679	-1	tier1	-	no_errors	ENST00000261007	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	175614679	G	A	175614679	3	1	31	1	0	0	0	0	1	0	0	0	3388	1086	38	1	388	1	CHRNA1	2	175614679	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	23166036	175614679	67584694	33	7388											
HOXD10	3236	genome.wustl.edu	37	chr2	176982185	176982185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgagcccgtgagcggccaGgagcccaccaaagtctccca	11	3	11	16	3	1	1	0	1	1	0	2	3	1	2	5	2	4	0	5	2	2	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:176982185G>A	ENST00000249501.4	+	1	879	c.624G>A	c.(622-624)caG>caA	p.Q208Q	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	208					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TGAGCGGCCAGGAGCCCACCA	0.652																																																	0													23	28	26					2																	176982185		2193	4275	6468	SO:0001819	synonymous_variant	0				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"Homeoboxes / ANTP class : HOXL subclass"	5133	protein-coding gene	gene with protein product		142984	"homeo box D10"	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.624G>A	2.37:g.176982185G>A			Q6NT10	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.Q208	ENST00000249501.4	37	c.624	CCDS2266.1	2																																																																																			HOXD10	-	NULL	ENSG00000128710		0.652	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	-	0	117	0	G			176982185	1	tier1	-	no_errors	ENST00000249501	ensembl	human	known	74_37	silent	38.26	71	44	SNP	1.000	A	A	176982185	G	A	176982185	2	1	31	1	0	0	0	0	0	0	0	1	7346	991	35	3		3	HOXD10	2	176982185	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	1367506	176982185	66217188	34	7389											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagaaattcacctgtctCttcatctagttgtaactgag	10	14	9	8	0	4	2	2	1	2	1	5	3	4	2	1	1	1	2	1	1	3	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	20	Substitution - Missense(20)	lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)											147	146	146					2																	178098810		1899	4107	6006	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E79K	ENST00000397062.3	37	c.235	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG	NFE2L2	-	NULL	ENSG00000116044		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	101	0	C	NM_006164		178098810	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	36.36	91	52	SNP	1.000	T	T	178098810	C	T	178098810	3	4	31	1	0	0	0	0	1	0	0	0	10407	922	32	3	1598	3	NFE2L2	2	178098810	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1116625	178098810	65100563	35	7390											
AGPS	8540	genome.wustl.edu	37	chr2	178333231	178333231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacaggccctgatatccatCacttcatcatgggatctgaa	12	10	7	12	0	4	2	3	2	1	0	5	3	5	3	2	2	1	0	2	2	3	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:178333231C>T	ENST00000264167.4	+	10	1230	c.1084C>T	c.(1084-1086)Cac>Tac	p.H362Y	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	362	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TGATATCCATCACTTCATCAT	0.328																																																	0													75	79	77					2																	178333231		2203	4299	6502	SO:0001583	missense	0			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1084C>T	2.37:g.178333231C>T	ENSP00000264167:p.His362Tyr		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.H362Y	ENST00000264167.4	37	c.1084	CCDS2275.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.107150	0.94292	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.82711	-1.64	5.78	5.78	0.91487	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);	0.095712	0.64402	D	0.000001	D	0.92688	0.7676	M	0.91768	3.24	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	D	0.93555	0.6890	10	0.72032	D	0.01	.	19.9867	0.97352	0.0:1.0:0.0:0.0	.	362	O00116	ADAS_HUMAN	Y	362;232	ENSP00000264167:H362Y	ENSP00000264167:H362Y	H	+	1	0	AGPS	178041477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.103000	0.77014	2.712000	0.92718	0.655000	0.94253	CAC	AGPS	-	superfamily_FAD-bd_2	ENSG00000018510		0.328	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	-	0	121	0	C			178333231	1	tier1	-	no_errors	ENST00000264167	ensembl	human	known	74_37	missense	36.70	119	69	SNP	1.000	T	T	178333231	C	T	178333231	3	4	31	1	0	0	0	0	1	0	0	0	394	826	29	3	1122	3	AGPS	2	178333231	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	234421	178333231	64866142	36	7391											
OSBPL6	114880	genome.wustl.edu	37	chr2	179238720	179238720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttctttgatgcccaagAggtgctcctctctgcaagtt	7	14	10	10	0	2	3	0	2	2	1	4	3	3	3	2	1	3	4	2	1	2	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:179238720A>G	ENST00000190611.4	+	15	1875	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	OSBPL6_ENST00000359685.3_Missense_Mutation_p.E464G|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E504G|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E525G|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E433G|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E469G|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E464G	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	500					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GATGCCCAAGAGGTGCTCCTC	0.468																																																	0													149	133	139					2																	179238720		2203	4300	6503	SO:0001583	missense	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1499A>G	2.37:g.179238720A>G	ENSP00000190611:p.Glu500Gly		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E504G	ENST00000190611.4	37	c.1511	CCDS2277.1	2	.	.	.	.	.	.	.	.	.	.	A	31	5.091094	0.94149	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.19669	2.35;2.48;2.13;2.38;2.36;2.48;2.35	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.48642	0.1511	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.994;0.997;0.991;0.997;0.986;0.994	T	0.50800	-0.8785	10	0.87932	D	0	-20.0817	16.2806	0.82678	1.0:0.0:0.0:0.0	.	469;504;464;525;500;433	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	G	525;464;433;469;500;464;504	ENSP00000376293:E525G;ENSP00000352713:E464G;ENSP00000349591:E433G;ENSP00000387248:E469G;ENSP00000190611:E500G;ENSP00000386885:E464G;ENSP00000318723:E504G	ENSP00000190611:E500G	E	+	2	0	OSBPL6	178946966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.251000	0.95483	2.248000	0.74166	0.533000	0.62120	GAG	OSBPL6	-	NULL	ENSG00000079156		0.468	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0	67	0	A	NM_032523		179238720	1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	G	G	179238720	A	G	179238720	3	3	31	1	0	0	0	0	1	0	0	0	11320	304	11	4	1671	4	OSBPL6	2	179238720	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	905489	179238720	63960653	37	7392											
DFNB59	494513	genome.wustl.edu	37	chr2	179320838	179320838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaaccacacgacagtgctCactgtctgtgcatgctggaa	10	8	10	13	2	2	0	1	0	1	0	2	3	2	1	2	1	4	3	2	1	2	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:179320838C>T	ENST00000409117.3	+	4	865	c.509C>T	c.(508-510)tCa>tTa	p.S170L	DFNB59_ENST00000375129.4_Missense_Mutation_p.S170L|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	170					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CGACAGTGCTCACTGTCTGTG	0.453																																																	0			GRCh37	CD073602	DFNB59	D							56	56	56					2																	179320838		2021	4175	6196	SO:0001583	missense	0			BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.509C>T	2.37:g.179320838C>T	ENSP00000386647:p.Ser170Leu		A0PK14|B9EJE2	Missense_Mutation	SNP	pfam_Gasdermin	p.S170L	ENST00000409117.3	37	c.509	CCDS42787.1	2	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758857	0.89843	.	.	ENSG00000204311	ENST00000409117;ENST00000375129	T;T	0.21543	2.0;2.0	5.66	5.66	0.87406	.	0.000000	0.33272	U	0.005095	T	0.36580	0.0972	L	0.47716	1.5	0.80722	D	1	D	0.53619	0.961	P	0.57009	0.811	T	0.00428	-1.1745	10	0.30854	T	0.27	-23.9341	20.1041	0.97884	0.0:1.0:0.0:0.0	.	170	Q0ZLH3	PJVK_HUMAN	L	170	ENSP00000386647:S170L;ENSP00000364271:S170L	ENSP00000364271:S170L	S	+	2	0	DFNB59	179029084	1.000000	0.71417	0.968000	0.41197	0.926000	0.56050	7.742000	0.85008	2.826000	0.97356	0.655000	0.94253	TCA	DFNB59	-	pfam_Gasdermin	ENSG00000204311		0.453	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB59	HGNC	protein_coding	OTTHUMT00000335160.1	-	0	104	0	C			179320838	1	tier1	-	no_errors	ENST00000375129	ensembl	human	known	74_37	missense	42.16	59	43	SNP	1.000	T	T	179320838	C	T	179320838	3	4	31	1	0	0	0	0	1	0	0	0	4470	838	29	3	519	3	DFNB59	2	179320838	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	82118	179320838	63878535	38	7393											
TTN	7273	genome.wustl.edu	37	chr2	179411010	179411010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaaagtgtattttccaCtgtcacttctgtcacagaac	10	15	6	10	0	3	1	2	0	1	1	4	1	4	1	1	0	1	2	1	0	4	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:179411010C>A	ENST00000591111.1	-	292	90349	c.90125G>T	c.(90124-90126)aGt>aTt	p.S30042I	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22743I|TTN_ENST00000460472.2_Missense_Mutation_p.S22618I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29115I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22810I|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S31683I			Q8WZ42	TITIN_HUMAN	titin	30042	Ig-like 136.		S -> G. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTTTCCACTGTCACTTCT	0.433																																																	0													211	204	207					2																	179411010		1955	4143	6098	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90125G>T	2.37:g.179411010C>A	ENSP00000465570:p.Ser30042Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S29115I	ENST00000591111.1	37	c.87344		2	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923982	0.34002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.66	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82623	0.5077	M	0.87038	2.855	0.35072	D	0.762559	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	P;P;P;P	0.59357	0.814;0.814;0.814;0.856	D	0.89600	0.3834	9	0.87932	D	0	.	17.7236	0.88359	0.0:0.6656:0.3344:0.0	.	22618;22743;22810;30042	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	29115;22618;22810;22743;22615	ENSP00000343764:S29115I;ENSP00000434586:S22618I;ENSP00000340554:S22810I;ENSP00000352154:S22743I	ENSP00000340554:S22810I	S	-	2	0	TTN	179119256	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	3.468000	0.53086	0.749000	0.32854	-0.795000	0.03280	AGT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	53	0	C	NM_133378		179411010	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	37.80	51	31	SNP	1.000	A	A	179411010	C	A	179411010	3	1	31	1	0	0	0	0	1	0	0	0	16784	565	20	3	13015	3	TTN	2	179411010	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	90172	179411010	63788363	39	7394											
PLEKHM3	389072	genome.wustl.edu	37	chr2	208842214	208842214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtataagttgtaaggtGaaagttctgcataacagctt	15	12	10	4	0	1	2	0	1	1	1	1	2	1	2	0	1	3	6	0	1	6	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:208842214G>A	ENST00000427836.2	-	3	1196	c.707C>T	c.(706-708)tCa>tTa	p.S236L	PLEKHM3_ENST00000457206.1_Missense_Mutation_p.S236L|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S236L	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	236	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTTGTAAGGTGAAAGTTCTGC	0.428																																																	0													237	226	229					2																	208842214		1939	4141	6080	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.707C>T	2.37:g.208842214G>A	ENSP00000417003:p.Ser236Leu		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S236L	ENST00000427836.2	37	c.707	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768232	0.90020	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	T;T;T	0.29397	1.57;1.57;1.57	5.96	5.96	0.96718	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.073632	0.53938	D	0.000042	T	0.41396	0.1157	L	0.27053	0.805	0.58432	D	0.999996	D;D	0.60575	0.988;0.988	P;P	0.57204	0.815;0.761	T	0.22871	-1.0204	10	0.87932	D	0	-0.9034	20.4116	0.99017	0.0:0.0:1.0:0.0	.	236;236	C9J119;Q6ZWE6	.;PKHM3_HUMAN	L	236	ENSP00000417003:S236L;ENSP00000373899:S236L;ENSP00000400150:S236L	ENSP00000373899:S236L	S	-	2	0	PLEKHM3	208550459	1.000000	0.71417	0.580000	0.28601	0.838000	0.47535	9.230000	0.95299	2.827000	0.97445	0.655000	0.94253	TCA	PLEKHM3	-	smart_Pleckstrin_homology	ENSG00000178385		0.428	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	-	0	64	0	G	NM_001080475		208842214	-1	tier1	-	no_errors	ENST00000427836	ensembl	human	known	74_37	missense	18.52	88	20	SNP	0.994	A	A	208842214	G	A	208842214	3	1	31	1	0	0	0	0	1	0	0	0	12121	1294	45	3	1602	3	PLEKHM3	2	208842214	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	29431204	208842214	34357159	40	7395											
ANKZF1	55139	genome.wustl.edu	37	chr2	220096650	220096650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcctcttcccttatttagGctcaggggagagagaaagcc	10	11	10	10	0	2	2	1	0	1	2	4	4	4	2	3	3	1	1	3	3	3	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:220096650G>A	ENST00000323348.5	+	3	323	c.149G>A	c.(148-150)gGc>gAc	p.G50D	ANKZF1_ENST00000410034.3_Splice_Site_p.G50D|ATG9A_ENST00000409618.1_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ATG9A_ENST00000396761.2_5'Flank|ATG9A_ENST00000409422.1_5'Flank|ANKZF1_ENST00000409849.1_Intron|ATG9A_ENST00000488833.1_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	50						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTATTTAGGCTCAGGGGAG	0.423																																																	0													70	69	69					2																	220096650		1837	4083	5920	SO:0001630	splice_region_variant	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.149-1G>A	2.37:g.220096650G>A			Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G50D	ENST00000323348.5	37	c.149	CCDS42821.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.04|19.04	3.749249|3.749249	0.69533|0.69533	.|.	.|.	ENSG00000163516|ENSG00000163516	ENST00000416565|ENST00000323348;ENST00000410034;ENST00000447157;ENST00000436226	.|T;T	.|0.26223	.|1.75;1.75	4.53|4.53	3.56|3.56	0.40772|0.40772	.|.	.|0.395247	.|0.28527	.|N	.|0.015028	T|T	0.31857|0.31857	0.0810|0.0810	L|L	0.41710|0.41710	1.295|1.295	0.37156|0.37156	D|D	0.902364|0.902364	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.22487|0.22487	-1.0215|-1.0215	6|10	0.87932|0.09338	D|T	0|0.73	.|.	6.6746|6.6746	0.23087|0.23087	0.1307:0.0:0.8693:0.0|0.1307:0.0:0.8693:0.0	.|.	.|50	.|Q9H8Y5	.|ANKZ1_HUMAN	T|D	32|50	.|ENSP00000321617:G50D;ENSP00000386337:G50D	ENSP00000406514:A32T|ENSP00000321617:G50D	A|G	+|+	1|2	0|0	ANKZF1|ANKZF1	219804894|219804894	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.773000|0.773000	0.43773|0.43773	0.874000|0.874000	0.28065|0.28065	2.348000|2.348000	0.79779|0.79779	0.467000|0.467000	0.42956|0.42956	GCT|GGC	ANKZF1	-	NULL	ENSG00000163516		0.423	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	-	0	61	0	G	NM_018089	Missense_Mutation	220096650	1	tier1	-	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	5.19	72	4	SNP	0.998	A	A	220096650	G	A	220096650	5	1	31	1	0	0	0	0	0	0	1	0	693	1217	42	3	155	3	ANKZF1	2	220096650	Splice_Site	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	11254436	220096650	23102723	41	7396											
GLB1L	79411	genome.wustl.edu	37	chr2	220103229	220103229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttacctgcttgacagcCtcaaaggtcattggcaagat	10	11	9	11	0	2	2	2	1	0	1	2	2	2	2	3	2	4	2	3	2	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:220103229C>G	ENST00000295759.7	-	13	1528	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.E405D|GLB1L_ENST00000409640.1_Missense_Mutation_p.E315D|GLB1L_ENST00000356283.3_Missense_Mutation_p.E315D			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	405					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTGACAGCCTCAAAGGTCA	0.468																																																	0													97	101	99					2																	220103229		2203	4300	6503	SO:0001583	missense	0				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1215G>C	2.37:g.220103229C>G	ENSP00000295759:p.Glu405Asp		Q96DR0	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.E405D	ENST00000295759.7	37	c.1215	CCDS2437.1	2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755574	0.49362	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.97994	-4.65;-4.46;-4.65;-4.46	5.01	3.22	0.36961	.	0.000000	0.85682	D	0.000000	D	0.98473	0.9491	M	0.87456	2.885	0.54753	D	0.999985	D;P	0.89917	1.0;0.521	D;B	0.83275	0.996;0.289	D	0.98329	1.0532	10	0.66056	D	0.02	-21.5618	8.8083	0.34952	0.0:0.772:0.0:0.228	.	315;405	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	D	405;315;405;315	ENSP00000295759:E405D;ENSP00000386354:E315D;ENSP00000375939:E405D;ENSP00000348628:E315D	ENSP00000295759:E405D	E	-	3	2	GLB1L	219811473	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.930000	0.28858	0.833000	0.34828	0.655000	0.94253	GAG	GLB1L	-	NULL	ENSG00000163521		0.468	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	HGNC	protein_coding	OTTHUMT00000256822.2	-	0	80	0	C	NM_024506		220103229	-1	tier1	-	no_errors	ENST00000295759	ensembl	human	known	74_37	missense	39.13	69	45	SNP	1.000	G	G	220103229	C	G	220103229	3	3	31	1	0	0	0	0	1	0	0	0	6454	680	24	5	769	5	GLB1L	2	220103229	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	6579	220103229	23096144	42	7397											
FAM124B	79843	genome.wustl.edu	37	chr2	225244631	225244631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgaggaccttcattctggCcccggattcaaggtgatgag	8	11	13	9	1	3	3	2	3	1	0	3	5	3	5	3	4	0	1	3	4	1	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:225244631C>T	ENST00000409685.3	-	2	1292	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	FAM124B_ENST00000389874.3_3'UTR	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	343										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TTCATTCTGGCCCCGGATTCA	0.552																																																	0													25	31	29					2																	225244631		692	1591	2283	SO:0001583	missense	0			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.1027G>A	2.37:g.225244631C>T	ENSP00000386895:p.Ala343Thr		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.A343T	ENST00000409685.3	37	c.1027	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423290	0.25639	.	.	ENSG00000124019	ENST00000409685	T	0.32272	1.46	5.92	-0.35	0.12606	.	.	.	.	.	T	0.14270	0.0345	L	0.29908	0.895	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.33369	-0.9871	9	0.06099	T	0.92	-0.5779	1.5522	0.02578	0.1361:0.3429:0.1326:0.3884	.	343	Q9H5Z6	F124B_HUMAN	T	343	ENSP00000386895:A343T	ENSP00000386895:A343T	A	-	1	0	FAM124B	224952875	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.022000	0.13511	-0.371000	0.08004	-0.136000	0.14681	GCC	FAM124B	-	NULL	ENSG00000124019		0.552	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	-	0	64	0	C	NM_024785		225244631	-1	tier1	-	no_errors	ENST00000409685	ensembl	human	known	74_37	missense	7.79	71	6	SNP	0.000	T	T	225244631	C	T	225244631	3	4	31	1	0	0	0	0	1	0	0	0	5445	739	26	3	344	3	FAM124B	2	225244631	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	5141402	225244631	17954742	43	7398											
AQP12A	375318	genome.wustl.edu	37	chr2	241631651	241631651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcctcatggccgagcagtCtctgcctggcacgctgttga	5	11	12	13	2	2	1	1	1	1	0	4	2	3	1	3	2	2	5	3	2	0	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr2:241631651C>T	ENST00000337801.4	+	2	353	c.284C>T	c.(283-285)tCt>tTt	p.S95F	AQP12A_ENST00000429564.1_Missense_Mutation_p.S107F|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	95						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GCCGAGCAGTCTCTGCCTGGC	0.677																																																	0													30	42	38					2																	241631651		2065	4254	6319	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.284C>T	2.37:g.241631651C>T	ENSP00000337144:p.Ser95Phe			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.S107F	ENST00000337801.4	37	c.320		2	.	.	.	.	.	.	.	.	.	.	.	9.451	1.090621	0.20471	.	.	ENSG00000184945	ENST00000337801;ENST00000373309;ENST00000429564;ENST00000420599	T;T	0.15487	2.42;2.42	2.56	2.56	0.30785	Aquaporin-like (2);	0.383937	0.27345	N	0.019798	T	0.36826	0.0981	M	0.76002	2.32	0.24694	N	0.993293	D	0.62365	0.991	D	0.66847	0.947	T	0.05699	-1.0869	10	0.62326	D	0.03	-0.5276	10.891	0.46996	0.0:1.0:0.0:0.0	.	95	Q8IXF9	AQ12A_HUMAN	F	95;33;107;80	ENSP00000337144:S95F;ENSP00000405899:S107F	ENSP00000337144:S95F	S	+	2	0	AQP12A	241280324	0.031000	0.19500	0.642000	0.29436	0.064000	0.16182	2.760000	0.47581	1.464000	0.47987	0.164000	0.16699	TCT	AQP12A	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.677	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	-	0	102	0	C	NM_198998		241631651	1	tier1	-	no_errors	ENST00000429564	ensembl	human	known	74_37	missense	22.52	86	25	SNP	0.283	T	T	241631651	C	T	241631651	3	4	31	1	0	0	0	0	1	0	0	0	824	913	32	3	290	3	AQP12A	2	241631651	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	16387020	241631651	1567722	44	7399											
TADA3	10474	genome.wustl.edu	37	chr3	9825821	9825821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagtcctctgcggggcGgtcctcagactccaaaaggc	7	7	13	14	3	2	1	1	0	1	1	6	2	5	2	3	5	1	0	3	5	2	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:9825821G>T	ENST00000301964.2	-	8	1555	c.997C>A	c.(997-999)Cgc>Agc	p.R333S	TADA3_ENST00000440161.1_Missense_Mutation_p.R333S|TADA3_ENST00000343450.2_Missense_Mutation_p.R333S	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	333					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGCGGGGCGGTCCTCAGAC	0.612																																																	0													54	49	51					3																	9825821		2203	4300	6503	SO:0001583	missense	0			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.997C>A	3.37:g.9825821G>T	ENSP00000307684:p.Arg333Ser		Q6FI83|Q9UFS2	Missense_Mutation	SNP	pfam_Histone_AcTrfase_su3	p.R333S	ENST00000301964.2	37	c.997	CCDS2583.1	3	.	.	.	.	.	.	.	.	.	.	G	5.375	0.254463	0.10185	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	6.17	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.29652	0.0740	N	0.08118	0	0.58432	D	0.999992	P;P	0.43519	0.809;0.809	P;P	0.45377	0.478;0.478	T	0.06826	-1.0805	9	0.08381	T	0.77	-20.9201	12.9378	0.58325	0.0651:0.0:0.8116:0.1233	.	333;333	O75528;A8K899	TADA3_HUMAN;.	S	333	.	ENSP00000307684:R333S	R	-	1	0	TADA3	9800821	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	5.934000	0.70138	1.633000	0.50488	0.655000	0.94253	CGC	TADA3	-	pfam_Histone_AcTrfase_su3	ENSG00000171148		0.612	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	HGNC	protein_coding	OTTHUMT00000250236.1		0	48	0	G			9825821	-1			no_errors	ENST00000301964	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	9825821	G	T	9825821	3	4	31	1	0	0	0	0	1	0	0	0	15559	1116	39	2	313	2	TADA3	3	9825821	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		9825821	188196609	45	7400											
CAPN7	23473	genome.wustl.edu	37	chr3	15248038	15248038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcgggacgctgtgcaGttcgcccgtctggcggttca	4	9	16	12	5	2	0	1	0	1	0	3	2	2	2	1	4	2	4	1	4	0	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:15248038G>T	ENST00000253693.2	+	1	289	c.36G>T	c.(34-36)caG>caT	p.Q12H	COL6A4P1_ENST00000446690.2_RNA	NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	12					positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ACGCTGTGCAGTTCGCCCGTC	0.697																																																	0													15	18	17					3																	15248038		2144	4220	6364	SO:0001583	missense	0			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"calpain like protease", "homolog of Aspergillus Nidulans PALB"	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.36G>T	3.37:g.15248038G>T	ENSP00000253693:p.Gln12His			Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	p.Q12H	ENST00000253693.2	37	c.36	CCDS2624.1	3	.	.	.	.	.	.	.	.	.	.	G	9.156	1.017463	0.19355	.	.	ENSG00000131375	ENST00000253693	T	0.70749	-0.51	4.76	1.69	0.24217	MIT (2);	0.435086	0.22428	N	0.060195	T	0.40862	0.1134	N	0.02011	-0.69	0.33062	D	0.534217	B	0.02656	0.0	B	0.04013	0.001	T	0.40942	-0.9536	10	0.40728	T	0.16	-6.7488	9.2844	0.37749	0.1563:0.1311:0.7127:0.0	.	12	Q9Y6W3	CAN7_HUMAN	H	12	ENSP00000253693:Q12H	ENSP00000253693:Q12H	Q	+	3	2	CAPN7	15223042	1.000000	0.71417	0.999000	0.59377	0.038000	0.13279	0.909000	0.28558	0.444000	0.26612	0.555000	0.69702	CAG	CAPN7	-	pfam_MIT,smart_MIT	ENSG00000131375		0.697	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN7	HGNC	protein_coding	OTTHUMT00000252105.2	-	0	71	0	G	NM_014296		15248038	1	tier1	-	no_errors	ENST00000253693	ensembl	human	known	74_37	missense	29.63	38	16	SNP	1.000	T	T	15248038	G	T	15248038	3	4	31	1	0	0	0	0	1	0	0	0	2638	1020	36	3	38	3	CAPN7	3	15248038	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	5422217	15248038	182774392	46	7401											
THRB	7068	genome.wustl.edu	37	chr3	24231691	24231691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgagatgtggcgacgactGttcatttttcaacgtgctgc	8	13	12	8	3	2	1	2	1	0	1	2	5	2	1	0	1	3	2	0	1	1	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:24231691G>T	ENST00000356447.4	-	4	441	c.157C>A	c.(157-159)Cag>Aag	p.Q53K	THRB_ENST00000396671.2_Missense_Mutation_p.Q53K|THRB_ENST00000416420.1_Missense_Mutation_p.Q53K	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	53	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGCGACGACTGTTCATTTTTC	0.502																																					Melanoma(21;896 1043 15021 37958)												0													242	228	233					3																	24231691		2203	4300	6503	SO:0001583	missense	0				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.157C>A	3.37:g.24231691G>T	ENSP00000348827:p.Gln53Lys		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.Q53K	ENST00000356447.4	37	c.157	CCDS2641.1	3	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875377	0.33162	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000413780;ENST00000415021;ENST00000447875;ENST00000453729;ENST00000431815;ENST00000447414;ENST00000428492;ENST00000418247	D;D;D;D	0.96459	-3.15;-3.15;-3.15;-4.02	5.93	4.12	0.48240	.	.	.	.	.	D	0.88720	0.6513	N	0.08118	0	0.22610	N	0.998933	B	0.13594	0.008	B	0.12156	0.007	T	0.73789	-0.3872	9	0.05833	T	0.94	.	11.5132	0.50504	0.0672:0.1266:0.8062:0.0	.	53	P10828	THB_HUMAN	K	53;53;53;22;53;53;53;53;53;53;53	ENSP00000379904:Q53K;ENSP00000348827:Q53K;ENSP00000414444:Q53K;ENSP00000414100:Q22K	ENSP00000348827:Q53K	Q	-	1	0	THRB	24206695	1.000000	0.71417	0.995000	0.50966	0.234000	0.25298	3.926000	0.56491	1.499000	0.48617	0.655000	0.94253	CAG	THRB	-	NULL	ENSG00000151090		0.502	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	THRB	HGNC	protein_coding	OTTHUMT00000252877.3		0	45	0	G	NM_000461		24231691	-1			no_errors	ENST00000356447	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.984	T	T	24231691	G	T	24231691	3	4	31	1	0	0	0	0	1	0	0	0	15922	1386	48	3	1256	3	THRB	3	24231691	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	8983653	24231691	173790739	47	7402											
DNAH1	25981	genome.wustl.edu	37	chr3	52427419	52427419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctacagcaacgtctgccGcagcctctttgagaagcaca	10	8	8	15	2	3	1	0	1	3	1	3	2	3	1	3	0	6	3	3	0	3	2	rs376742990		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:52427419G>A	ENST00000420323.2	+	66	10805	c.10544G>A	c.(10543-10545)cGc>cAc	p.R3515H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3580					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACGTCTGCCGCAGCCTCTTT	0.542																																																	0								G	HIS/ARG	1,4295		0,1,2147	94	107	103		10544	4.5	1	3		103	0,8516		0,0,4258	no	missense	DNAH1	NM_015512.4	29	0,1,6405	AA,AG,GG		0.0,0.0233,0.0078	probably-damaging	3515/4266	52427419	1,12811	2148	4258	6406	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.10544G>A	3.37:g.52427419G>A	ENSP00000401514:p.Arg3515His		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.R3515H	ENST00000420323.2	37	c.10544	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.198058	0.94997	2.33E-4	0.0	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.80566	-1.39	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000010	D	0.93000	0.7772	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.942	D	0.95373	0.8466	10	0.87932	D	0	.	17.341	0.87296	0.0:0.0:1.0:0.0	.	3515;3580	C9JXH6;Q9P2D7-2	.;.	H	3515;268	ENSP00000401514:R3515H	ENSP00000273600:R268H	R	+	2	0	DNAH1	52402459	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.675000	0.84002	2.324000	0.78689	0.563000	0.77884	CGC	DNAH1	-	NULL	ENSG00000114841		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	92	0	G	NM_015512		52427419	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	6.15	60	4	SNP	1.000	A	A	52427419	G	A	52427419	3	1	31	1	0	0	0	0	1	0	0	0	4611	1087	38	1	10802	1	DNAH1	3	52427419	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	28195728	52427419	145595011	48	7403											
SLMAP	7871	genome.wustl.edu	37	chr3	57743485	57743485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcggccgctcagtggcccGctgtcgaccagcgcagaata	9	6	12	14	5	1	1	1	0	0	1	3	2	1	1	3	2	1	3	3	2	3	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:57743485G>A	ENST00000428312.1	+	1	201	c.107G>A	c.(106-108)cGc>cAc	p.R36H	SLMAP_ENST00000449503.2_Missense_Mutation_p.R36H|SLMAP_ENST00000295952.3_Missense_Mutation_p.R36H|SLMAP_ENST00000295951.3_Missense_Mutation_p.R36H|SLMAP_ENST00000383718.3_Missense_Mutation_p.R36H|SLMAP_ENST00000416870.1_De_novo_Start_OutOfFrame			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	36	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.|Necessary for targeting to centrosomes. {ECO:0000250}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAGTGGCCCGCTGTCGACCA	0.547																																																	0													70	63	65					3																	57743485		2203	4300	6503	SO:0001583	missense	0			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"Sarcolemmal-associated protein"	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.107G>A	3.37:g.57743485G>A	ENSP00000398661:p.Arg36His		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.R36H	ENST00000428312.1	37	c.107		3	.	.	.	.	.	.	.	.	.	.	G	34	5.396895	0.96009	.	.	ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503	T;T;T;T;T	0.53857	1.22;1.22;0.6;1.2;1.23	5.61	5.61	0.85477	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.66439	2.03	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.989;0.996	T	0.74702	-0.3576	10	0.87932	D	0	-3.5469	19.6271	0.95682	0.0:0.0:1.0:0.0	.	36;36;36;36	Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.;SLMAP_HUMAN;.;.	H	36	ENSP00000295951:R36H;ENSP00000295952:R36H;ENSP00000373224:R36H;ENSP00000398661:R36H;ENSP00000412945:R36H	ENSP00000295951:R36H	R	+	2	0	SLMAP	57718525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.804000	0.99143	2.645000	0.89757	0.591000	0.81541	CGC	SLMAP	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	ENSG00000163681		0.547	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1		0	37	0	G	NM_007159		57743485	1			no_errors	ENST00000428312	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	A	A	57743485	G	A	57743485	3	1	31	1	0	0	0	0	1	0	0	0	14794	1087	38	1	109	1	SLMAP	3	57743485	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	5316066	57743485	140278945	49	7404											
LRIG1	26018	genome.wustl.edu	37	chr3	66432729	66432729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcccattggcctgagggCcaccctcggtcctgaccacg	5	8	12	16	2	0	2	0	2	0	0	2	2	1	2	6	3	1	0	6	3	0	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:66432729C>T	ENST00000273261.3	-	16	3109	c.2585G>A	c.(2584-2586)gGc>gAc	p.G862D	LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Missense_Mutation_p.G839D	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	862					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGCCTGAGGGCCACCCTCGGT	0.567																																																	0													147	148	147					3																	66432729		2203	4300	6503	SO:0001583	missense	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2585G>A	3.37:g.66432729C>T	ENSP00000273261:p.Gly862Asp		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G862D	ENST00000273261.3	37	c.2585	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809139	0.70797	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.76186	-0.56;-1.0	5.65	4.76	0.60689	.	0.191535	0.45606	D	0.000355	T	0.82259	0.4998	L	0.59436	1.845	0.40147	D	0.976907	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.979;1.0;1.0	D	0.83497	0.0073	10	0.62326	D	0.03	.	10.6701	0.45753	0.0:0.681:0.2503:0.0687	.	839;862;862	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	D	862;839;765	ENSP00000273261:G862D;ENSP00000373208:G839D	ENSP00000273261:G862D	G	-	2	0	LRIG1	66515419	0.995000	0.38212	0.999000	0.59377	0.815000	0.46073	2.880000	0.48530	1.347000	0.45714	0.655000	0.94253	GGC	LRIG1	-	NULL	ENSG00000144749		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1		0	58	0	C	NM_015541		66432729	-1			no_errors	ENST00000273261	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.984	T	T	66432729	C	T	66432729	3	4	31	1	0	0	0	0	1	0	0	0	8979	739	26	3	712	3	LRIG1	3	66432729	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	8689244	66432729	131589701	50	7405											
CADM2	253559	genome.wustl.edu	37	chr3	85961663	85961663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatccctcaatgccacccctCaggtagccatgcaggtgcta	10	8	8	15	0	2	0	2	0	0	0	3	0	3	0	5	2	4	3	5	2	4	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:85961663C>G	ENST00000407528.2	+	5	705	c.643C>G	c.(643-645)Cag>Gag	p.Q215E	CADM2_ENST00000405615.2_Missense_Mutation_p.Q217E|CADM2_ENST00000383699.3_Missense_Mutation_p.Q224E	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	215	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGCCACCCCTCAGGTAGCCAT	0.483																																																	0													109	93	98					3																	85961663		2203	4300	6503	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.643C>G	3.37:g.85961663C>G	ENSP00000384575:p.Gln215Glu		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.Q217E	ENST00000407528.2	37	c.649	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623407	0.46840	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;D;D	0.85702	-2.02;-2.02;-2.02	5.5	5.5	0.81552	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.157917	0.56097	D	0.000022	T	0.78349	0.4269	L	0.31926	0.97	0.53005	D	0.999965	B;B;B	0.19445	0.036;0.002;0.017	B;B;B	0.18263	0.021;0.009;0.007	T	0.73078	-0.4096	10	0.07644	T	0.81	.	19.3937	0.94596	0.0:1.0:0.0:0.0	.	217;224;215	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	E	224;215;217	ENSP00000373200:Q224E;ENSP00000384575:Q215E;ENSP00000384193:Q217E	ENSP00000373200:Q224E	Q	+	1	0	CADM2	86044353	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.539000	0.67199	2.583000	0.87209	0.591000	0.81541	CAG	CADM2	-	pfscan_Ig-like_dom	ENSG00000175161		0.483	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	-	0	74	0	C	NM_153184		85961663	1	tier1	-	no_errors	ENST00000405615	ensembl	human	known	74_37	missense	7.41	125	10	SNP	1.000	G	G	85961663	C	G	85961663	3	3	31	1	0	0	0	0	1	0	0	0	2574	827	29	5	732	5	CADM2	3	85961663	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	19528934	85961663	112060767	51	7406											
HTR1F	3355	genome.wustl.edu	37	chr3	88039960	88039960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaactgttaaacagaatgCcatccaaaattctggtgtcc	14	10	8	9	0	1	1	0	0	1	1	3	2	3	2	3	2	3	1	3	2	6	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:88039960C>G	ENST00000319595.4	+	1	115	c.61C>G	c.(61-63)Cca>Gca	p.P21A		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	21					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.P21S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAACAGAATGCCATCCAAAAT	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											127	126	126					3																	88039960		2203	4300	6503	SO:0001583	missense	0			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5292	protein-coding gene	gene with protein product		182134	"5-hydroxytryptamine (serotonin) receptor 1F"			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.61C>G	3.37:g.88039960C>G	ENSP00000322924:p.Pro21Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.P21A	ENST00000319595.4	37	c.61	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	C	8.555	0.876370	0.17395	.	.	ENSG00000179097	ENST00000319595	T	0.38887	1.11	5.74	4.81	0.61882	.	0.207171	0.41823	D	0.000814	T	0.21962	0.0529	N	0.08118	0	0.30013	N	0.814996	B	0.20368	0.044	B	0.21708	0.036	T	0.10706	-1.0618	10	0.17369	T	0.5	.	11.1044	0.48194	0.2938:0.7061:0.0:0.0	.	21	P30939	5HT1F_HUMAN	A	21	ENSP00000322924:P21A	ENSP00000322924:P21A	P	+	1	0	HTR1F	88122650	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	4.121000	0.57904	2.714000	0.92807	0.585000	0.79938	CCA	HTR1F	-	prints_5HT1F_rcpt	ENSG00000179097		0.388	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	-	0	85	0	C	NM_000866		88039960	1	tier1	-	no_errors	ENST00000319595	ensembl	human	known	74_37	missense	14.19	127	21	SNP	1.000	G	G	88039960	C	G	88039960	3	3	31	1	0	0	0	0	1	0	0	0	7467	739	26	5	63	5	HTR1F	3	88039960	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	2078297	88039960	109982470	52	7407											
CRYBG3	131544	genome.wustl.edu	37	chr3	97600041	97600041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaaagaaactttatattggGttctctcaaacgtgtcttaa	14	14	6	7	1	3	1	1	0	2	1	4	1	3	1	0	1	2	1	0	1	6	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:97600041G>T	ENST00000182096.4	+	4	1350	c.1286G>T	c.(1285-1287)gGt>gTt	p.G429V		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2377							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTTATATTGGGTTCTCTCAAA	0.368																																																	0													94	93	93					3																	97600041		1821	4072	5893	SO:0001583	missense	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1286G>T	3.37:g.97600041G>T	ENSP00000182096:p.Gly429Val		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G429V	ENST00000182096.4	37	c.1286		3	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356168	0.41700	.	.	ENSG00000080200	ENST00000182096	T	0.77750	-1.12	4.89	4.89	0.63831	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.088115	0.49305	N	0.000141	D	0.82715	0.5097	M	0.87971	2.92	0.80722	D	1	B	0.24426	0.103	B	0.31946	0.138	T	0.82804	-0.0276	10	0.54805	T	0.06	.	16.5888	0.84759	0.0:0.0:1.0:0.0	.	429	Q68DQ2	CRBG3_HUMAN	V	429	ENSP00000182096:G429V	ENSP00000182096:G429V	G	+	2	0	CRYBG3	99082731	1.000000	0.71417	1.000000	0.80357	0.672000	0.39443	6.245000	0.72398	2.430000	0.82344	0.650000	0.86243	GGT	CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000080200		0.368	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1		0	76	0	G	NM_153605		97600041	1			no_errors	ENST00000182096	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	97600041	G	T	97600041	3	4	31	1	0	0	0	0	1	0	0	0	3920	1261	44	3	1300	3	CRYBG3	3	97600041	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	9560081	97600041	100422389	53	7408											
PDIA5	10954	genome.wustl.edu	37	chr3	122842926	122842926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaggtgctggccgggaTgaatgtctactcctctgaat	7	11	11	12	1	2	2	0	2	2	0	4	3	4	3	3	3	2	1	3	3	3	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:122842926T>C	ENST00000316218.7	+	9	718	c.623T>C	c.(622-624)aTg>aCg	p.M208T		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	208	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CTGGCCGGGATGAATGTCTAC	0.567																																																	0													53	50	51					3																	122842926		2203	4300	6503	SO:0001583	missense	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"Protein disulfide isomerases"	24811	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 5"			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.623T>C	3.37:g.122842926T>C	ENSP00000323313:p.Met208Thr		D3DN95|Q9BV43	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.M208T	ENST00000316218.7	37	c.623	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	T	19.33	3.807820	0.70797	.	.	ENSG00000065485	ENST00000316218	T	0.22336	1.96	5.27	5.27	0.74061	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.84219	2.685	0.80722	D	1	D	0.56746	0.977	P	0.61940	0.896	T	0.51180	-0.8738	10	0.59425	D	0.04	.	13.9334	0.64010	0.0:0.0:0.0:1.0	.	208	Q14554	PDIA5_HUMAN	T	208	ENSP00000323313:M208T	ENSP00000323313:M208T	M	+	2	0	PDIA5	124325616	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.872000	0.75536	2.209000	0.71365	0.533000	0.62120	ATG	PDIA5	-	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	ENSG00000065485		0.567	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1		0	78	0	T	NM_006810		122842926	1			no_errors	ENST00000316218	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	C	C	122842926	T	C	122842926	3	2	31	1	0	0	0	0	1	0	0	0	11710	1464	51	4	657	4	PDIA5	3	122842926	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	25242885	122842926	75179504	54	7409											
MGLL	11343	genome.wustl.edu	37	chr3	127411061	127411061	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtggggacgcagttcCtgccgtggctgtcctttgag	4	11	16	10	2	1	1	1	1	0	0	3	2	3	2	3	4	1	3	3	4	0	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:127411061C>A	ENST00000434178.2	-	8	1788	c.892G>T	c.(892-894)Gga>Tga	p.G298*	MGLL_ENST00000453507.2_Nonsense_Mutation_p.G278*|MGLL_ENST00000398101.3_Nonsense_Mutation_p.G272*|MGLL_ENST00000398104.1_Nonsense_Mutation_p.G298*|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000265052.5_Nonsense_Mutation_p.G308*			Q99685	MGLL_HUMAN	monoglyceride lipase	298					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GACGCAGTTCCTGCCGTGGCT	0.562																																																	0													82	82	82					3																	127411061		1906	4124	6030	SO:0001587	stop_gained	0			BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.892G>T	3.37:g.127411061C>A	ENSP00000402798:p.Gly298*		B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Nonsense_Mutation	SNP	pfam_Lysophospholipase_put,pfam_AB_hydrolase_1,pfam_Lipase_3,pfam_Esterase_put,pfam_AB_hydrolase_3,prints_AB_hydrolase_1	p.G308*	ENST00000434178.2	37	c.922	CCDS43148.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.446939|6.446939	0.97572|0.97572	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000487473;ENST00000536024;ENST00000453507;ENST00000484451|ENST00000496306	.|.	.|.	.|.	4.94|4.94	2.98|2.98	0.34508|0.34508	.|.	0.531595|.	0.20489|.	N|.	0.091335|.	.|T	.|0.50701	.|0.1631	.|.	.|.	.|.	0.34347|0.34347	D|D	0.68944|0.68944	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59118	.|-0.7514	.|4	0.46703|.	T|.	0.11|.	-18.3188|-18.3188	9.014|9.014	0.36159|0.36159	0.0:0.811:0.0:0.189|0.0:0.811:0.0:0.189	.|.	.|.	.|.	.|.	X|H	298;308;298;272;150;308;278;192|203	.|.	ENSP00000265052:G308X|.	G|Q	-|-	1|3	0|2	MGLL|MGLL	128893751|128893751	0.014000|0.014000	0.17966|0.17966	0.005000|0.005000	0.12908|0.12908	0.042000|0.042000	0.13812|0.13812	1.516000|1.516000	0.35856|0.35856	0.927000|0.927000	0.37143|0.37143	0.491000|0.491000	0.48974|0.48974	GGA|CAG	MGLL	-	NULL	ENSG00000074416		0.562	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGLL	HGNC	protein_coding	OTTHUMT00000356637.2	-	0	84	0	C	NM_007283		127411061	-1	tier1	-	no_errors	ENST00000265052	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.023	A	A	127411061	C	A	127411061	4	1	31	1	0	0	0	0	0	1	0	0	9594	690	24	3	23	3	MGLL	3	127411061	Nonsense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	4568135	127411061	70611369	55	7410											
COL6A5	256076	genome.wustl.edu	37	chr3	130098602	130098602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcagaagagcacaaGgagtgcctcagattgcagtt	13	7	13	8	0	1	3	1	0	0	3	1	4	1	4	1	2	4	5	1	2	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:130098602G>A	ENST00000432398.2	+	4	1503	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	COL6A5_ENST00000265379.6_Missense_Mutation_p.G337R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	337	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAGAGCACAAGGAGTGCCTCA	0.493																																																	0													120	101	107					3																	130098602		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.1009G>A	3.37:g.130098602G>A	ENSP00000390895:p.Gly337Arg		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G337R	ENST00000432398.2	37	c.1009		3	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349808	0.61183	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.79940	-1.32;-1.32	5.34	5.34	0.76211	.	.	.	.	.	D	0.91026	0.7177	M	0.87971	2.92	0.40268	D	0.978253	D	0.89917	1.0	D	0.97110	1.0	D	0.92067	0.5661	9	0.52906	T	0.07	.	17.8255	0.88664	0.0:0.0:1.0:0.0	.	337	A8TX70-2	.	R	337	ENSP00000390895:G337R;ENSP00000265379:G337R	ENSP00000265379:G337R	G	+	1	0	COL6A5	131581292	1.000000	0.71417	0.720000	0.30636	0.928000	0.56348	5.116000	0.64661	2.503000	0.84419	0.455000	0.32223	GGA	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.493	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	46	0	G	NM_153264		130098602	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	11.11	64	8	SNP	0.988	A	A	130098602	G	A	130098602	3	1	31	1	0	0	0	0	1	0	0	0	3709	1001	35	3	1019	3	COL6A5	3	130098602	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	2687541	130098602	67923828	56	7411											
MRPS22	56945	genome.wustl.edu	37	chr3	139074623	139074623	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggctgctgagggaataaaTttaatcaaggtaaagttttt	14	13	10	4	0	1	1	1	1	0	0	1	2	1	2	0	3	1	4	0	3	7	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:139074623T>A	ENST00000495075.1	+	9	1410	c.978T>A	c.(976-978)aaT>aaA	p.N326K	MRPS22_ENST00000478464.1_Missense_Mutation_p.N285K|MRPS22_ENST00000310776.4_Missense_Mutation_p.N326K|MRPS22_ENST00000465056.1_Missense_Mutation_p.N325K			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	326						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						AGGGAATAAATTTAATCAAGG	0.418																																																	0													53	56	55					3																	139074623		2203	4300	6503	SO:0001583	missense	0			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.978T>A	3.37:g.139074623T>A	ENSP00000418008:p.Asn326Lys		Q9H3I1	Missense_Mutation	SNP	pfam_Ribosomal_S22_mit	p.N326K	ENST00000495075.1	37	c.978	CCDS3107.1	3	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471760	0.43942	.	.	ENSG00000175110	ENST00000495075;ENST00000310776;ENST00000465056;ENST00000478464	D;D;D;D	0.81908	-1.54;-1.54;-1.55;-1.54	5.76	-6.64	0.01801	.	0.432153	0.27558	N	0.018829	T	0.60235	0.2253	N	0.16478	0.41	0.58432	D	0.999999	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.04140	-1.0974	10	0.56958	D	0.05	-0.6942	4.0945	0.09985	0.0974:0.1232:0.195:0.5844	.	285;325;326	G5E9W7;G5E9V5;P82650	.;.;RT22_HUMAN	K	326;326;325;285	ENSP00000418008:N326K;ENSP00000310785:N326K;ENSP00000418233:N325K;ENSP00000419303:N285K	ENSP00000310785:N326K	N	+	3	2	MRPS22	140557313	0.403000	0.25319	0.025000	0.17156	0.970000	0.65996	-0.407000	0.07178	-1.501000	0.01817	0.533000	0.62120	AAT	MRPS22	-	NULL	ENSG00000175110		0.418	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS22	HGNC	protein_coding	OTTHUMT00000358120.1	-	0	96	0	T	NM_020191		139074623	1	tier1	-	no_errors	ENST00000310776	ensembl	human	known	74_37	missense	19.21	143	34	SNP	0.270	A	A	139074623	T	A	139074623	3	1	31	1	0	0	0	0	1	0	0	0	9871	1490	52	5	1004	5	MRPS22	3	139074623	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	8976021	139074623	58947807	57	7412											
TRPC1	7220	genome.wustl.edu	37	chr3	142521063	142521063	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatttcttgggatgtttcTtcttgttttgttttctttca	6	24	6	5	0	5	0	1	0	4	0	5	1	5	1	0	1	0	3	0	1	2	10			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:142521063T>G	ENST00000476941.1	+	10	2120	c.1634T>G	c.(1633-1635)cTt>cGt	p.L545R	RNU7-47P_ENST00000515978.1_RNA|TRPC1_ENST00000273482.6_Missense_Mutation_p.L511R	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	545					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GGGATGTTTCTTCTTGTTTTG	0.343																																																	0													102	103	103					3																	142521063		2203	4300	6503	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1634T>G	3.37:g.142521063T>G	ENSP00000419313:p.Leu545Arg		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.L545R	ENST00000476941.1	37	c.1634	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	T	23.8	4.460773	0.84317	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98926	-5.24;-5.24	5.47	5.47	0.80525	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98617	0.9537	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;P	0.71184	0.959;0.972;0.879	D	0.99827	1.1051	10	0.54805	T	0.06	-2.223	15.8584	0.79005	0.0:0.0:0.0:1.0	.	511;545;511	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	R	545;511;64	ENSP00000419313:L545R;ENSP00000273482:L511R	ENSP00000273482:L511R	L	+	2	0	TRPC1	144003753	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.956000	0.87863	2.201000	0.70794	0.528000	0.53228	CTT	TRPC1	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000144935		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	-	0	122	0	T	NM_003304		142521063	1	tier1	-	no_errors	ENST00000476941	ensembl	human	known	74_37	missense	15.54	163	30	SNP	1.000	G	G	142521063	T	G	142521063	3	3	31	1	0	0	0	0	1	0	0	0	16626	1609	56	4	1566	4	TRPC1	3	142521063	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	3446440	142521063	55501367	58	7413											
ZIC1	7545	genome.wustl.edu	37	chr3	147130385	147130385	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcaagaagcacatgcacGtgcacacgagcgacaagccc	14	2	10	15	4	0	1	0	0	0	1	0	3	0	1	2	0	5	4	2	0	3	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:147130385G>C	ENST00000282928.4	+	2	1792	c.1063G>C	c.(1063-1065)Gtg>Ctg	p.V355L		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	355					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCACATGCACGTGCACACGAG	0.557																																																	0													148	117	128					3																	147130385		2203	4300	6503	SO:0001583	missense	0			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1063G>C	3.37:g.147130385G>C	ENSP00000282928:p.Val355Leu		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V355L	ENST00000282928.4	37	c.1063	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665230	0.88251	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	4.01	4.01	0.46588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	T	0.08223	0.0205	N	0.21142	0.635	0.80722	D	1	B	0.10296	0.003	B	0.22880	0.042	T	0.20042	-1.0287	10	0.87932	D	0	.	16.1243	0.81382	0.0:0.0:1.0:0.0	.	355	Q15915	ZIC1_HUMAN	L	355	ENSP00000282928:V355L	ENSP00000282928:V355L	V	+	1	0	ZIC1	148613075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.926000	0.87569	1.772000	0.52199	0.462000	0.41574	GTG	ZIC1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152977		0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	-	0	89	0	G	NM_003412		147130385	1	tier1	-	no_errors	ENST00000282928	ensembl	human	known	74_37	missense	15.13	101	18	SNP	1.000	C	C	147130385	G	C	147130385	3	2	31	1	0	0	0	0	1	0	0	0	17726	1145	40	5	1069	5	ZIC1	3	147130385	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	4609322	147130385	50892045	59	7414											
USP13	8975	genome.wustl.edu	37	chr3	179481948	179481948	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaggctattcaggcactaCgagcaacggtgagcatgaga	13	7	12	9	2	2	2	2	2	0	1	2	4	2	2	0	3	4	4	0	3	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:179481948C>T	ENST00000263966.3	+	18	2722	c.2251C>T	c.(2251-2253)Cga>Tga	p.R751*	USP13_ENST00000496897.1_Nonsense_Mutation_p.R686*	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	751	UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.|USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCAGGCACTACGAGCAACGGT	0.448																																																	0													107	93	98					3																	179481948		2203	4300	6503	SO:0001587	stop_gained	0			U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"Ubiquitin-specific peptidases"	12611	protein-coding gene	gene with protein product		603591	"ubiquitin specific protease 13 (isopeptidase T-3)"			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.2251C>T	3.37:g.179481948C>T	ENSP00000263966:p.Arg751*		A8K2S3|B4DYF3|D3DNS2|Q96B25	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R751*	ENST00000263966.3	37	c.2251	CCDS3235.1	3	.	.	.	.	.	.	.	.	.	.	C	44	10.633320	0.99441	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	.	.	.	5.69	3.69	0.42338	.	0.127918	0.51477	D	0.000084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-4.0578	13.4221	0.61005	0.4312:0.5688:0.0:0.0	.	.	.	.	X	751;686	.	ENSP00000263966:R751X	R	+	1	2	USP13	180964642	0.928000	0.31464	0.829000	0.32907	0.940000	0.58332	2.191000	0.42640	1.358000	0.45922	0.655000	0.94253	CGA	USP13	-	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	ENSG00000058056		0.448	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP13	HGNC	protein_coding	OTTHUMT00000349617.1	-	0	37	0	C			179481948	1	tier1	-	no_errors	ENST00000263966	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	0.909	T	T	179481948	C	T	179481948	4	4	31	1	0	0	0	0	0	1	0	0	17093	528	19	1	2321	1	USP13	3	179481948	Nonsense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	32351563	179481948	18540482	60	7415											
FXR1	8087	genome.wustl.edu	37	chr3	180688017	180688017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatcagactgcagacactGatgccagcgaatctcatcac	13	7	8	13	1	3	4	3	1	1	3	4	5	3	4	1	0	3	1	1	0	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:180688017G>A	ENST00000357559.4	+	15	1858	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	FXR1_ENST00000480918.1_Missense_Mutation_p.D479N|FXR1_ENST00000468861.1_Missense_Mutation_p.D407N|FXR1_ENST00000491062.1_Missense_Mutation_p.D443N|FXR1_ENST00000305586.7_Missense_Mutation_p.D407N|FXR1_ENST00000445140.2_Missense_Mutation_p.D492N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	492					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGCAGACACTGATGCCAGCGA	0.433																																																	0													132	114	120					3																	180688017		2203	4300	6503	SO:0001583	missense	0			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.1474G>A	3.37:g.180688017G>A	ENSP00000350170:p.Asp492Asn		A8K9B8|Q7Z450|Q8N6R8	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,superfamily_NA-bd_OB-fold,smart_KH_dom,pfscan_KH_dom_type_1	p.D492N	ENST00000357559.4	37	c.1474	CCDS3238.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.693966	0.96793	.	.	ENSG00000114416	ENST00000357559;ENST00000305586;ENST00000491062;ENST00000468861;ENST00000445140;ENST00000480918	T;T;T;T;T;T	0.44482	1.63;1.45;0.93;0.92;0.92;1.44	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.968;0.968;0.998;0.981;0.993	D;P;P;D;P;D	0.85130	0.997;0.772;0.772;0.995;0.886;0.977	T	0.63690	-0.6580	10	0.72032	D	0.01	-18.2892	20.3011	0.98612	0.0:0.0:1.0:0.0	.	479;443;407;436;492;492	B4DXZ6;E9PFF5;E7EU85;E7ERF5;P51114-2;P51114	.;.;.;.;.;FXR1_HUMAN	N	492;407;443;407;492;479	ENSP00000350170:D492N;ENSP00000307633:D407N;ENSP00000420643:D443N;ENSP00000420515:D407N;ENSP00000388828:D492N;ENSP00000418097:D479N	ENSP00000307633:D407N	D	+	1	0	FXR1	182170711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.804000	0.96469	0.650000	0.86243	GAT	FXR1	-	NULL	ENSG00000114416		0.433	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR1	HGNC	protein_coding	OTTHUMT00000350265.5	-	0	54	0	G			180688017	1	tier1	-	no_errors	ENST00000357559	ensembl	human	known	74_37	missense	9.41	77	8	SNP	1.000	A	A	180688017	G	A	180688017	3	1	31	1	0	0	0	0	1	0	0	0	6139	1290	45	3	1532	3	FXR1	3	180688017	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	1206069	180688017	17334413	61	7416											
PARL	55486	genome.wustl.edu	37	chr3	183551536	183551538	+	In_Frame_Del	DEL	CGG	CGG	-																															cctgctgtgaacgtgaacatCggaaggaaaataatggcaag																								rs149824069	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:183551536_183551538delCGG	ENST00000317096.4	-	8	964_966	c.904_906delCCG	c.(904-906)ccgdel	p.P302del	PARL_ENST00000311101.5_In_Frame_Del_p.P252del|PARL_ENST00000435888.1_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	302					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.P302Q(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACGTGAACATCGGAAGGAAAATA	0.463																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	0			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.904_906delCCG	3.37:g.183551536_183551538delCGG	ENSP00000325421:p.Pro302del		Q96CQ4|Q9BTJ6|Q9P1E3	In_Frame_Del	DEL	pfam_Peptidase_S54_rhomboid_dom	p.P302in_frame_del	ENST00000317096.4	37	c.906_904	CCDS3248.1	3																																																																																			PARL	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000175193		0.463	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARL	HGNC	protein_coding	OTTHUMT00000346465.1		0	68	0	CGG	NM_018622		183551538	-1			no_errors	ENST00000317096	ensembl	human	known	74_37	in_frame_del	9.57	85	9	DEL	0.275:1.000:1.000	0	-	183551538	CGG	-	183551536	7	5	31	1	0	1	0	1	0	0	0	0	11490	871	31	0	245	0	PARL	3	183551536	In_Frame_Del	DEL	CGG	TCGA-IG-A8O2-01A-11D-A36J-09	2863519	183551536	14470894	62	7417	29	2									
PARL	55486	genome.wustl.edu	37	chr3	183551540	183551547	+	Frame_Shift_Del	DEL	AGGAAAAT	AGGAAAAT	-																															ctgtgaacgtgaacatcggaAggaaaataatggcaagcctc																										TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	AGGAAAAT	AGGAAAAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr3:183551540_183551547delAGGAAAAT	ENST00000317096.4	-	8	955_962	c.895_902delATTTTCCT	c.(895-903)attttccttfs	p.IFL299fs	PARL_ENST00000311101.5_Frame_Shift_Del_p.IFL249fs|PARL_ENST00000435888.1_Intron	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	299					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACATCGGAAGGAAAATAATGGCAAGC	0.466																																																	0																																										SO:0001589	frameshift_variant	0			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.895_902delATTTTCCT	3.37:g.183551540_183551547delAGGAAAAT	ENSP00000325421:p.Ile299fs		Q96CQ4|Q9BTJ6|Q9P1E3	Frame_Shift_Del	DEL	pfam_Peptidase_S54_rhomboid_dom	p.I299fs	ENST00000317096.4	37	c.902_895	CCDS3248.1	3																																																																																			PARL	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000175193		0.466	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARL	HGNC	protein_coding	OTTHUMT00000346465.1		0	70	0	AGGAAAAT	NM_018622		183551547	-1			no_errors	ENST00000317096	ensembl	human	known	74_37	frame_shift_del	9.89	82	9	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0	-	183551547	AGGAAAAT	-	183551540	7	5	31	1	0	1	0	1	0	0	0	0	11490	72	3	0	249	0	PARL	3	183551540	Frame_Shift_Del	DEL	AGGAAAAT	TCGA-IG-A8O2-01A-11D-A36J-09	4	183551540	14470890	63	7418	29	2									
SLC30A9	10463	genome.wustl.edu	37	chr4	42072671	42072671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagccagaacaagtacaaCggctcactgaactcctggag	13	6	9	13	1	1	2	1	1	0	1	3	3	3	3	3	2	5	2	3	2	5	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:42072671C>T	ENST00000264451.7	+	15	1561	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	461					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACAAGTACAACGGCTCACTGA	0.448																																																	0													151	125	134					4																	42072671		2203	4300	6503	SO:0001583	missense	0			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1381C>T	4.37:g.42072671C>T	ENSP00000264451:p.Arg461Trp		Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.R461W	ENST00000264451.7	37	c.1381	CCDS3465.1	4	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656294	0.47467	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.63913	-0.07	5.25	3.42	0.39159	.	0.117157	0.64402	D	0.000020	T	0.60183	0.2249	M	0.70595	2.14	0.48236	D	0.999615	B	0.32693	0.38	B	0.28139	0.086	T	0.62946	-0.6746	10	0.87932	D	0	-7.9561	14.0334	0.64629	0.2761:0.7239:0.0:0.0	.	461	Q6PML9	ZNT9_HUMAN	W	461;289	ENSP00000264451:R461W	ENSP00000264451:R461W	R	+	1	2	SLC30A9	41767428	1.000000	0.71417	0.895000	0.35142	0.785000	0.44390	3.120000	0.50430	0.622000	0.30249	0.655000	0.94253	CGG	SLC30A9	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000014824		0.448	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	HGNC	protein_coding	OTTHUMT00000216842.3	-	0	56	0	C			42072671	1	tier1	-	no_errors	ENST00000264451	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.999	T	T	42072671	C	T	42072671	3	4	31	1	0	0	0	0	1	0	0	0	14607	527	19	1	1439	1	SLC30A9	4	42072671	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		42072671	149081605	64	7419											
HNRPDL	9987	genome.wustl.edu	37	chr4	83347630	83347630	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttaccactgtagtctgcaTatccctgtccatatccatag	9	14	5	13	0	2	0	0	0	2	0	5	0	5	0	4	0	2	2	4	0	5	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:83347630T>A	ENST00000295470.5	-	6	1353	c.1178A>T	c.(1177-1179)tAt>tTt	p.Y393F	HNRNPDL_ENST00000349655.4_Intron|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.Y393F|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.Y274F|HNRNPDL_ENST00000514511.1_5'UTR	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	393	Gly-rich.|Necessary for interaction with TNPO1.|Tyr-rich.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										GTAGTCTGCATATCCCTGTCC	0.338																																																	0													108	105	106					4																	83347630		2203	4300	6503	SO:0001583	missense	0			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1178A>T	4.37:g.83347630T>A	ENSP00000295470:p.Tyr393Phe		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y393F	ENST00000295470.5	37	c.1178	CCDS3593.1	4	.	.	.	.	.	.	.	.	.	.	t	14.23	2.474416	0.43942	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.86432	-2.12;-2.12	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.92080	0.7490	M	0.78049	2.395	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	D	0.90117	0.4196	10	0.19147	T	0.46	.	16.2104	0.82151	0.0:0.0:0.0:1.0	.	393	O14979	HNRDL_HUMAN	F	393	ENSP00000295470:Y393F;ENSP00000422040:Y393F	ENSP00000295470:Y393F	Y	-	2	0	HNRPDL	83566654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.448000	0.66612	2.289000	0.77006	0.459000	0.35465	TAT	HNRNPDL	-	NULL	ENSG00000152795		0.338	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPDL	HGNC	protein_coding	OTTHUMT00000252644.1	-	0	64	0	T	NM_005463		83347630	-1	tier1	-	no_errors	ENST00000295470	ensembl	human	known	74_37	missense	27.87	44	17	SNP	1.000	A	A	83347630	T	A	83347630	3	1	31	1	0	0	0	0	1	0	0	0	7303	1406	49	5	92	5	HNRPDL	4	83347630	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	41274959	83347630	107806646	65	7420											
TIGD2	166815	genome.wustl.edu	37	chr4	90034798	90034798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtttacacaaacttaatCtttgtgttgtggggaaggcc	10	13	11	7	0	1	0	0	0	1	0	1	1	1	1	1	4	2	2	1	4	4	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:90034798C>T	ENST00000317005.2	+	1	831	c.673C>T	c.(673-675)Ctt>Ttt	p.L225F	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	225	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CAAACTTAATCTTTGTGTTGT	0.428																																																	0													68	70	70					4																	90034798		2203	4300	6503	SO:0001583	missense	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.673C>T	4.37:g.90034798C>T	ENSP00000317170:p.Leu225Phe			Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L225F	ENST00000317005.2	37	c.673	CCDS3633.1	4	.	.	.	.	.	.	.	.	.	.	c	14.02	2.409356	0.42715	.	.	ENSG00000180346	ENST00000317005	T	0.51071	0.72	3.97	3.97	0.46021	.	0.000000	0.35151	U	0.003403	T	0.68622	0.3021	M	0.83312	2.635	0.30403	N	0.779797	D	0.89917	1.0	D	0.85130	0.997	T	0.69075	-0.5241	10	0.37606	T	0.19	-3.6107	13.666	0.62396	0.0:1.0:0.0:0.0	.	225	Q4W5G0	TIGD2_HUMAN	F	225	ENSP00000317170:L225F	ENSP00000317170:L225F	L	+	1	0	TIGD2	90253821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.481000	0.45215	2.070000	0.61991	0.546000	0.68486	CTT	TIGD2	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000180346		0.428	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2		0	85	0	C	NM_145715		90034798	1			no_errors	ENST00000317005	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	90034798	C	T	90034798	3	4	31	1	0	0	0	0	1	0	0	0	15943	913	32	3	675	3	TIGD2	4	90034798	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	6687168	90034798	101119478	66	7421											
FAM190A	401145	genome.wustl.edu	37	chr4	92520186	92520186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacagcactgagctgcaaaCtctaggccagcaggatgggt	12	6	12	11	0	1	1	0	1	1	0	1	2	1	2	1	3	5	4	1	3	2	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:92520186C>G	ENST00000509176.1	+	11	2969	c.2681C>G	c.(2680-2682)aCt>aGt	p.T894S	CCSER1_ENST00000333691.8_Missense_Mutation_p.T894S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	894																	GAGCTGCAAACTCTAGGCCAG	0.443																																																	0													26	23	24					4																	92520186		692	1591	2283	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2681C>G	4.37:g.92520186C>G	ENSP00000425040:p.Thr894Ser		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.T894S	ENST00000509176.1	37	c.2681	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871388	0.51695	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.33865	1.39;1.39	5.49	5.49	0.81192	.	.	.	.	.	T	0.28532	0.0706	N	0.19112	0.55	0.25864	N	0.983787	B	0.14805	0.011	B	0.15484	0.013	T	0.09684	-1.0663	9	0.29301	T	0.29	-1.447	17.9056	0.88917	0.0:1.0:0.0:0.0	.	894	Q9C0I3	F190A_HUMAN	S	894	ENSP00000425040:T894S;ENSP00000329482:T894S	ENSP00000329482:T894S	T	+	2	0	FAM190A	92739209	1.000000	0.71417	0.996000	0.52242	0.669000	0.39330	3.984000	0.56923	2.732000	0.93576	0.650000	0.86243	ACT	CCSER1	-	NULL	ENSG00000184305		0.443	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0	79	0	C	NM_001145065		92520186	1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	G	G	92520186	C	G	92520186	3	3	31	1	0	0	0	0	1	0	0	0	5540	565	20	5	2747	5	FAM190A	4	92520186	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	2485388	92520186	98634090	67	7422											
UBE2D3	7323	genome.wustl.edu	37	chr4	103720600	103720600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagatccgtgcaatctctGgcactagggggtcatctggg	8	11	13	9	1	3	1	1	0	2	1	5	1	4	1	1	4	1	2	1	4	4	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:103720600G>A	ENST00000453744.2	-	7	875	c.362C>T	c.(361-363)cCa>cTa	p.P121L	UBE2D3_ENST00000349311.8_Missense_Mutation_p.P121L|UBE2D3_ENST00000350435.7_Missense_Mutation_p.P115L|UBE2D3_ENST00000321805.7_Missense_Mutation_p.P121L|UBE2D3_ENST00000394804.2_Missense_Mutation_p.P121L|UBE2D3_ENST00000338145.3_Missense_Mutation_p.P121L|UBE2D3_ENST00000507845.1_Missense_Mutation_p.P92L|UBE2D3_ENST00000357194.6_Missense_Mutation_p.P123L|UBE2D3_ENST00000394803.5_Missense_Mutation_p.P121L|UBE2D3_ENST00000502404.1_Missense_Mutation_p.P92L|UBE2D3_ENST00000505207.1_Missense_Mutation_p.P92L|UBE2D3_ENST00000394801.4_Missense_Mutation_p.P121L|UBE2D3_ENST00000343106.5_Missense_Mutation_p.P121L|UBE2D3_ENST00000504211.1_Missense_Mutation_p.P92L	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	121					apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TGCAATCTCTGGCACTAGGGG	0.353																																																	0													63	64	63					4																	103720600		2203	4299	6502	SO:0001583	missense	0			U39318	CCDS3659.1, CCDS3660.1, CCDS3661.1, CCDS75172.1	4q24	2011-05-19	2011-05-19		ENSG00000109332	ENSG00000109332		"Ubiquitin-conjugating enzymes E2"	12476	protein-coding gene	gene with protein product		602963	"ubiquitin-conjugating enzyme E2D 3 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181886		Approved	UbcH5C	uc003hwl.3	P61077	OTTHUMG00000131119	ENST00000453744.2:c.362C>T	4.37:g.103720600G>A	ENSP00000396901:p.Pro121Leu		A6NJ93|A6NJB1|A6NM99|P47986|Q6IB88|Q6NXS4|Q8N924	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P123L	ENST00000453744.2	37	c.368	CCDS3660.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.552095	0.96501	.	.	ENSG00000109332	ENST00000453744;ENST00000394801;ENST00000394803;ENST00000394804;ENST00000343106;ENST00000321805;ENST00000350435;ENST00000338145;ENST00000349311;ENST00000504211;ENST00000357194;ENST00000505207;ENST00000507845;ENST00000502404	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.89	5.89	0.94794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	L	0.54965	1.715	0.80722	D	1	P;P;D	0.69078	0.502;0.945;0.997	B;P;D	0.66716	0.273;0.753;0.946	T	0.56685	-0.7938	10	0.87932	D	0	.	20.2361	0.98357	0.0:0.0:1.0:0.0	.	123;121;121	P61077-3;P61077;P61077-2	.;UB2D3_HUMAN;.	L	121;121;121;121;121;121;115;121;121;92;123;92;92;92	ENSP00000396901:P121L;ENSP00000378280:P121L;ENSP00000378282:P121L;ENSP00000378283:P121L;ENSP00000345285:P121L;ENSP00000318494:P121L;ENSP00000337262:P115L;ENSP00000337208:P121L;ENSP00000344069:P121L;ENSP00000426620:P92L;ENSP00000349722:P123L;ENSP00000426586:P92L;ENSP00000424359:P92L;ENSP00000421904:P92L	ENSP00000318494:P121L	P	-	2	0	UBE2D3	103939712	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.611000	0.98342	2.791000	0.96007	0.591000	0.81541	CCA	UBE2D3	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000109332		0.353	UBE2D3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UBE2D3	HGNC	protein_coding	OTTHUMT00000253791.2	-	0	66	0	G	NM_181893		103720600	-1	tier1	-	no_errors	ENST00000357194	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	103720600	G	A	103720600	3	1	31	1	0	0	0	0	1	0	0	0	16899	1348	47	3	142	3	UBE2D3	4	103720600	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	11200414	103720600	87433676	68	7423											
AGXT2L1	64850	genome.wustl.edu	37	chr4	109674128	109674128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggctgagtctgcatggtCttctctatattttcctctgt	5	18	8	10	0	4	1	0	1	4	0	6	1	5	1	1	2	1	2	1	2	2	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:109674128C>G	ENST00000296486.3	-	6	695	c.541G>C	c.(541-543)Gac>Cac	p.D181H	ETNPPL_ENST00000510706.1_Missense_Mutation_p.D141H|ETNPPL_ENST00000411864.2_Missense_Mutation_p.D175H|ETNPPL_ENST00000512646.1_Missense_Mutation_p.D123H	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	181						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCTGCATGGTCTTCTCTATAT	0.363																																																	0													158	147	151					4																	109674128		2203	4300	6503	SO:0001583	missense	0			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.541G>C	4.37:g.109674128C>G	ENSP00000296486:p.Asp181His		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.D181H	ENST00000296486.3	37	c.541	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841656	0.71488	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.46	2.79	0.32731	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.179615	0.64402	D	0.000017	T	0.63908	0.2551	M	0.84773	2.715	0.58432	D	0.999996	P;P;P	0.48407	0.829;0.795;0.91	P;P;P	0.59171	0.792;0.689;0.853	T	0.61983	-0.6950	9	.	.	.	-11.0279	7.8478	0.29435	0.1324:0.7289:0.0:0.1387	.	123;175;181	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	H	181;175;123;141	ENSP00000296486:D181H;ENSP00000392269:D175H;ENSP00000427065:D123H;ENSP00000423240:D141H	.	D	-	1	0	AGXT2L1	109893577	1.000000	0.71417	0.949000	0.38748	0.930000	0.56654	2.110000	0.41873	0.269000	0.21961	0.655000	0.94253	GAC	ETNPPL	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	ENSG00000164089		0.363	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETNPPL	HGNC	protein_coding	OTTHUMT00000363508.1	-	0	73	0	C	NM_031279		109674128	-1	tier1	-	no_errors	ENST00000296486	ensembl	human	known	74_37	missense	32.26	42	20	SNP	1.000	G	G	109674128	C	G	109674128	3	3	31	1	0	0	0	0	1	0	0	0	406	913	32	5	990	5	AGXT2L1	4	109674128	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	5953528	109674128	81480148	69	7424											
QRFPR	84109	genome.wustl.edu	37	chr4	122250821	122250821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaataatttgcacgataGcaaaaatcatcttgattgtg	15	13	6	7	1	2	1	1	1	1	0	3	2	3	1	1	0	2	2	1	0	5	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:122250821G>A	ENST00000394427.2	-	6	1355	c.944C>T	c.(943-945)gCt>gTt	p.A315V	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	315					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TTGCACGATAGCAAAAATCAT	0.274																																																	0													33	34	34					4																	122250821		2202	4299	6501	SO:0001583	missense	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.944C>T	4.37:g.122250821G>A	ENSP00000377948:p.Ala315Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.A315V	ENST00000394427.2	37	c.944	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273412	0.80580	.	.	ENSG00000186867	ENST00000394427	T	0.36157	1.27	5.47	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.050711	0.85682	D	0.000000	T	0.50000	0.1590	L	0.48986	1.54	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.28396	-1.0045	10	0.15952	T	0.53	.	15.1062	0.72324	0.0:0.2513:0.7487:0.0	.	315	Q96P65	QRFPR_HUMAN	V	315	ENSP00000377948:A315V	ENSP00000377948:A315V	A	-	2	0	QRFPR	122470271	1.000000	0.71417	0.977000	0.42913	0.972000	0.66771	5.311000	0.65786	2.569000	0.86673	0.491000	0.48974	GCT	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186867		0.274	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0	68	0	G	NM_198179		122250821	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.996	A	A	122250821	G	A	122250821	3	1	31	1	0	0	0	0	1	0	0	0	12923	971	34	3	355	3	QRFPR	4	122250821	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	12576693	122250821	68903455	70	7425											
ARHGAP10	79658	genome.wustl.edu	37	chr4	148786095	148786095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaagaaagaagtttgaGtttgtggaacctgtgagtat	15	11	12	3	0	0	5	0	2	0	3	0	6	0	6	1	1	1	3	1	1	6	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:148786095G>A	ENST00000336498.3	+	6	824	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAAGTTTGAGTTTGTGGAAC	0.378																																																	0													115	116	116					4																	148786095		2203	4300	6503	SO:0001819	synonymous_variant	0			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.585G>A	4.37:g.148786095G>A			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E195	ENST00000336498.3	37	c.585	CCDS34075.1	4																																																																																			ARHGAP10	-	NULL	ENSG00000071205		0.378	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1	-	0	98	0	G	NM_024605		148786095	1	tier1	-	no_errors	ENST00000336498	ensembl	human	known	74_37	silent	35.96	57	32	SNP	1.000	A	A	148786095	G	A	148786095	2	1	31	1	0	0	0	0	0	0	0	1	862	1020	36	3		3	ARHGAP10	4	148786095	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	26535274	148786095	42368181	71	7426											
FGB	2244	genome.wustl.edu	37	chr4	155488798	155488798	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactggaaaagcaccaattaTatatagatgagactgtgaat	18	10	8	5	0	0	3	0	2	0	2	0	5	0	4	1	1	2	1	1	1	9	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:155488798T>C	ENST00000302068.4	+	4	607	c.544T>C	c.(544-546)Tat>Cat	p.Y182H	FGB_ENST00000509493.1_5'UTR|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	182					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCACCAATTATATATAGATGA	0.338																																					NSCLC(106;1133 1613 21870 46110 52656)												0													92	90	91					4																	155488798		2203	4300	6503	SO:0001583	missense	0				CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"Fibrinogen C domain containing", "Endogenous ligands"	3662	protein-coding gene	gene with protein product		134830	"fibrinogen, B beta polypeptide"				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.544T>C	4.37:g.155488798T>C	ENSP00000306099:p.Tyr182His		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Y182H	ENST00000302068.4	37	c.544	CCDS3786.1	4	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658776	0.67586	.	.	ENSG00000171564	ENST00000302068;ENST00000537843	D	0.83163	-1.69	5.77	5.77	0.91146	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.218158	0.49916	D	0.000133	D	0.89301	0.6676	M	0.76002	2.32	0.80722	D	1	D;D	0.61080	0.989;0.967	P;P	0.59761	0.863;0.787	D	0.89006	0.3425	10	0.42905	T	0.14	.	16.383	0.83481	0.0:0.0:0.0:1.0	.	165;182	B4E1D3;P02675	.;FIBB_HUMAN	H	182;165	ENSP00000306099:Y182H	ENSP00000306099:Y182H	Y	+	1	0	FGB	155708248	0.993000	0.37304	0.896000	0.35187	0.828000	0.46876	7.150000	0.77403	2.326000	0.78906	0.533000	0.62120	TAT	FGB	-	pfam_Fibrinogen_a/b/g_coil_dom	ENSG00000171564		0.338	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGB	HGNC	protein_coding	OTTHUMT00000317595.1	-	0	55	0	T	NM_005141		155488798	1	tier1	-	no_errors	ENST00000302068	ensembl	human	known	74_37	missense	34.09	29	15	SNP	0.986	C	C	155488798	T	C	155488798	3	2	31	1	0	0	0	0	1	0	0	0	5853	1406	49	4	558	4	FGB	4	155488798	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	6702703	155488798	35665478	72	7427											
FAT1	2195	genome.wustl.edu	37	chr4	187541055	187541055	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactccagtattgaagttaaTagtgaactggctgaaagggt	14	11	11	5	0	0	3	0	3	0	0	1	3	1	3	1	2	2	3	1	2	7	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr4:187541055T>C	ENST00000441802.2	-	10	6894	c.6685A>G	c.(6685-6687)Att>Gtt	p.I2229V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2229	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGAAGTTAATAGTGAACTGG	0.532										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													169	174	172					4																	187541055		2034	4182	6216	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6685A>G	4.37:g.187541055T>C	ENSP00000406229:p.Ile2229Val			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.I2229V	ENST00000441802.2	37	c.6685	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	T	3.176	-0.168870	0.06461	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.58506	0.33	5.05	-0.604	0.11626	Cadherin (4);Cadherin-like (1);	0.102294	0.64402	N	0.000004	T	0.47911	0.1471	L	0.55834	1.745	0.54753	D	0.999986	B	0.11235	0.004	B	0.21708	0.036	T	0.31613	-0.9937	10	0.34782	T	0.22	.	9.8547	0.41079	0.0:0.2586:0.0:0.7414	.	2229	Q14517	FAT1_HUMAN	V	2229;2231	ENSP00000406229:I2229V	ENSP00000260147:I2231V	I	-	1	0	FAT1	187778049	0.489000	0.26004	0.069000	0.20011	0.074000	0.17049	0.806000	0.27126	-0.148000	0.11234	-0.274000	0.10170	ATT	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.532	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	60	0	T	NM_005245		187541055	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	44.64	31	25	SNP	0.782	C	C	187541055	T	C	187541055	3	2	31	1	0	0	0	0	1	0	0	0	5711	1406	49	4	7153	4	FAT1	4	187541055	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	32052257	187541055	3613221	73	7428											
DNAH5	1767	genome.wustl.edu	37	chr5	13865870	13865870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttacagtttctatgacaCtgttgtacagagtatatatt	12	18	6	5	0	1	2	0	1	1	1	1	2	1	2	0	0	2	4	0	0	7	11			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:13865870C>T	ENST00000265104.4	-	27	4366	c.4262G>A	c.(4261-4263)aGt>aAt	p.S1421N	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1421	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTATGACACTGTTGTACAG	0.343									Kartagener syndrome																																								0													58	60	59					5																	13865870		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4262G>A	5.37:g.13865870C>T	ENSP00000265104:p.Ser1421Asn		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1421N	ENST00000265104.4	37	c.4262	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	9.054	0.992871	0.18966	.	.	ENSG00000039139	ENST00000265104	T	0.61040	0.14	5.9	2.06	0.26882	Dynein heavy chain, domain-2 (1);	0.252596	0.44285	N	0.000464	T	0.29976	0.0750	N	0.08118	0	0.24732	N	0.993085	B	0.02656	0.0	B	0.12837	0.008	T	0.16453	-1.0402	10	0.16420	T	0.52	.	6.5355	0.22350	0.0:0.5708:0.1625:0.2667	.	1421	Q8TE73	DYH5_HUMAN	N	1421	ENSP00000265104:S1421N	ENSP00000265104:S1421N	S	-	2	0	DNAH5	13918870	0.000000	0.05858	0.965000	0.40720	0.991000	0.79684	-0.544000	0.06077	0.097000	0.17492	0.650000	0.86243	AGT	DNAH5	-	pfam_Dynein_heavy_dom-2	ENSG00000039139		0.343	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	57	0	C	NM_001369		13865870	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.633	T	T	13865870	C	T	13865870	3	4	31	1	0	0	0	0	1	0	0	0	4618	565	20	3	9824	3	DNAH5	5	13865870	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		13865870	167049390	74	7429											
GOLPH3	64083	genome.wustl.edu	37	chr5	32126582	32126582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactttcttgatgaggcgCtgcttaatgttgttattggt	6	19	11	5	1	1	2	0	2	1	0	1	2	1	2	0	2	2	5	0	2	3	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:32126582C>T	ENST00000265070.6	-	4	948	c.633G>A	c.(631-633)caG>caA	p.Q211Q	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	211					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TGATGAGGCGCTGCTTAATGT	0.468																																																	0													220	206	211					5																	32126582		2203	4300	6503	SO:0001819	synonymous_variant	0			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.633G>A	5.37:g.32126582C>T			Q9UIW5	Silent	SNP	pfam_GPP34	p.Q211	ENST00000265070.6	37	c.633	CCDS3896.1	5																																																																																			GOLPH3	-	pfam_GPP34	ENSG00000113384		0.468	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3	HGNC	protein_coding	OTTHUMT00000207363.2	-	0	104	0	C	NM_022130		32126582	-1	tier1	-	no_errors	ENST00000265070	ensembl	human	known	74_37	silent	20.33	98	25	SNP	1.000	T	T	32126582	C	T	32126582	2	4	31	1	0	0	0	0	0	0	0	1	6594	796	28	3		3	GOLPH3	5	32126582	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	18260712	32126582	148788678	75	7430											
DHX29	54505	genome.wustl.edu	37	chr5	54589922	54589922	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttgttgttcagcatatcGtaaaatccactctttcatat	11	18	4	8	1	3	0	2	0	1	0	5	0	4	0	1	0	1	4	1	0	4	8			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:54589922G>A	ENST00000251636.5	-	6	851	c.703C>T	c.(703-705)Cga>Tga	p.R235*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	235						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.R235*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TCAGCATATCGTAAAATCCAC	0.303																																																	1	Substitution - Nonsense(1)	endometrium(1)											96	96	96					5																	54589922		2201	4298	6499	SO:0001587	stop_gained	0			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"DEAH-boxes"	15815	protein-coding gene	gene with protein product		612720	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.703C>T	5.37:g.54589922G>A	ENSP00000251636:p.Arg235*		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R235*	ENST00000251636.5	37	c.703	CCDS34158.1	5	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529189	0.64860	.	.	ENSG00000067248	ENST00000251636	.	.	.	5.94	3.04	0.35103	.	0.313012	0.37261	N	0.002162	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.409	0.60931	0.0:0.0:0.5299:0.4701	.	.	.	.	X	235	.	ENSP00000251636:R235X	R	-	1	2	DHX29	54625679	0.038000	0.19896	0.218000	0.23776	0.277000	0.26821	1.284000	0.33249	0.328000	0.23435	0.573000	0.79308	CGA	DHX29	-	NULL	ENSG00000067248		0.303	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1		0	26	0	G	NM_019030		54589922	-1			no_errors	ENST00000251636	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	0.736	A	A	54589922	G	A	54589922	4	1	31	1	0	0	0	0	0	1	0	0	4517	1153	40	1	3494	1	DHX29	5	54589922	Nonsense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	22463340	54589922	126325338	76	7431											
WDR41	55255	genome.wustl.edu	37	chr5	76736675	76736675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatgaatagaaatgtcaTttgatttttgacagagtttt	14	17	8	2	0	1	6	1	4	0	2	1	6	1	6	0	0	0	1	0	0	4	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:76736675T>C	ENST00000296679.4	-	9	1220	c.845A>G	c.(844-846)aAt>aGt	p.N282S	WDR41_ENST00000414719.2_Missense_Mutation_p.N28S|WDR41_ENST00000507029.1_Missense_Mutation_p.N227S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	282						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AGAAATGTCATTTGATTTTTG	0.378																																																	0													115	115	115					5																	76736675		2203	4300	6503	SO:0001583	missense	0			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.845A>G	5.37:g.76736675T>C	ENSP00000296679:p.Asn282Ser		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N282S	ENST00000296679.4	37	c.845	CCDS4038.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.68|10.68	1.416939|1.416939	0.25552|0.25552	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000511630|ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791	.|T;T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12;0.1;2.38	5.8|5.8	4.62|4.62	0.57501|0.57501	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.177809	.|0.64402	.|D	.|0.000010	T|T	0.48409|0.48409	0.1498|0.1498	L|L	0.46157|0.46157	1.445|1.445	0.31254|0.31254	N|N	0.69372|0.69372	.|B;B;B	.|0.12013	.|0.001;0.001;0.005	.|B;B;B	.|0.08055	.|0.002;0.002;0.003	T|T	0.46527|0.46527	-0.9185|-0.9185	5|10	.|0.09084	.|T	.|0.74	-7.4712|-7.4712	8.1758|8.1758	0.31281|0.31281	0.0:0.0693:0.136:0.7947|0.0:0.0693:0.136:0.7947	.|.	.|227;28;282	.|B4DT55;B4E2L4;Q9HAD4	.|.;.;WDR41_HUMAN	V|S	108|282;28;217;227;53;74	.|ENSP00000296679:N282S;ENSP00000392931:N28S;ENSP00000426499:N217S;ENSP00000424287:N227S;ENSP00000427291:N53S;ENSP00000423540:N74S	.|ENSP00000296679:N282S	M|N	-|-	1|2	0|0	WDR41|WDR41	76772431|76772431	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.989000|0.989000	0.77384|0.77384	1.924000|1.924000	0.40065|0.40065	0.994000|0.994000	0.38892|0.38892	0.528000|0.528000	0.53228|0.53228	ATG|AAT	WDR41	-	superfamily_WD40_repeat_dom	ENSG00000164253		0.378	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	HGNC	protein_coding	OTTHUMT00000220014.2	-	0	68	0	T	NM_018268		76736675	-1	tier1	-	no_errors	ENST00000296679	ensembl	human	known	74_37	missense	56.86	22	29	SNP	1.000	C	C	76736675	T	C	76736675	3	2	31	1	0	0	0	0	1	0	0	0	17343	1493	52	4	554	4	WDR41	5	76736675	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	22146753	76736675	104178585	77	7432											
PAPD4	167153	genome.wustl.edu	37	chr5	78944904	78944904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaaaatcgagttcgtccGttagtgctggtgattaagaa	11	13	12	5	3	0	3	0	2	0	1	3	4	1	3	1	1	1	4	1	1	5	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:78944904G>A	ENST00000296783.3	+	11	1217	c.918G>A	c.(916-918)ccG>ccA	p.P306P	PAPD4_ENST00000504233.1_Intron|PAPD4_ENST00000428308.2_Silent_p.P306P|PAPD4_ENST00000453514.1_Silent_p.P306P|PAPD4_ENST00000423041.2_Silent_p.P302P			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	306					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGTTCGTCCGTTAGTGCTGG	0.378																																																	0													125	118	120					5																	78944904		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"TUTase2"	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.918G>A	5.37:g.78944904G>A			Q86WZ2|Q8N927	Silent	SNP	pfam_PAP_assoc	p.P306	ENST00000296783.3	37	c.918	CCDS4048.1	5																																																																																			PAPD4	-	NULL	ENSG00000164329		0.378	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD4	HGNC	protein_coding	OTTHUMT00000226967.1	-	0	137	0	G	NM_173797		78944904	1	tier1	-	no_errors	ENST00000296783	ensembl	human	known	74_37	silent	67.29	35	72	SNP	0.005	A	A	78944904	G	A	78944904	2	1	31	1	0	0	0	0	0	0	0	1	11463	1132	40	1		1	PAPD4	5	78944904	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	2208229	78944904	101970356	78	7433											
VCAN	1462	genome.wustl.edu	37	chr5	82834775	82834775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatcagtcacatatctGactcagaaggacccagtagc	13	9	7	12	0	5	2	4	1	1	1	5	3	5	3	1	1	1	1	1	1	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:82834775G>T	ENST00000265077.3	+	8	6518	c.5953G>T	c.(5953-5955)Gac>Tac	p.D1985Y	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D998Y|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1985	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCACATATCTGACTCAGAAGG	0.502																																																	0													104	95	98					5																	82834775		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5953G>T	5.37:g.82834775G>T	ENSP00000265077:p.Asp1985Tyr		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.D1985Y	ENST00000265077.3	37	c.5953	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633477	0.29068	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.89343	-2.46;-2.5;2.51	5.97	1.13	0.20643	.	0.378221	0.25478	N	0.030384	D	0.88934	0.6572	M	0.72894	2.215	0.18873	N	0.999986	D;P	0.53462	0.96;0.933	P;P	0.51550	0.673;0.473	T	0.81439	-0.0932	10	0.72032	D	0.01	.	6.3338	0.21285	0.1979:0.2443:0.5579:0.0	.	998;1985	P13611-2;P13611	.;CSPG2_HUMAN	Y	1985;998;998	ENSP00000265077:D1985Y;ENSP00000340062:D998Y;ENSP00000426251:D998Y	ENSP00000265077:D1985Y	D	+	1	0	VCAN	82870531	0.053000	0.20554	0.011000	0.14972	0.061000	0.15899	2.059000	0.41384	-0.069000	0.12931	-0.274000	0.10170	GAC	VCAN	-	NULL	ENSG00000038427		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	39	0	G	NM_004385		82834775	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.106	T	T	82834775	G	T	82834775	3	4	31	1	0	0	0	0	1	0	0	0	17187	1290	45	3	5979	3	VCAN	5	82834775	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	3889871	82834775	98080485	79	7434											
MCC	4163	genome.wustl.edu	37	chr5	112420953	112420953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggaagtgaggcggccagGgctggagggacctgtggcct	6	6	21	8	1	0	1	0	1	0	0	0	4	0	4	3	8	0	1	3	8	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:112420953G>T	ENST00000302475.4	-	7	1446	c.883C>A	c.(883-885)Cct>Act	p.P295T	MCC_ENST00000408903.3_Missense_Mutation_p.P485T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.P232T	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	295					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		AGGCGGCCAGGGCTGGAGGGA	0.552																																																	0													167	165	166					5																	112420953		2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.883C>A	5.37:g.112420953G>T	ENSP00000305617:p.Pro295Thr		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.P295T	ENST00000302475.4	37	c.883	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958746	0.53400	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.39229	2.23;2.23;1.09	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.80764	0.981;0.981;0.994;0.981	T	0.32824	-0.9892	10	0.13853	T	0.58	-17.6001	19.8927	0.96935	0.0:0.0:1.0:0.0	.	295;257;485;295	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	T	295;232;485	ENSP00000305617:P295T;ENSP00000421615:P232T;ENSP00000386227:P485T	ENSP00000305617:P295T	P	-	1	0	MCC	112448852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.562000	0.82300	2.711000	0.92665	0.655000	0.94253	CCT	MCC	-	NULL	ENSG00000171444		0.552	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0	56	0	G	NM_001085377		112420953	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	112420953	G	T	112420953	3	4	31	1	0	0	0	0	1	0	0	0	9411	1232	43	3	1650	3	MCC	5	112420953	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	29586178	112420953	68494307	80	7435											
MEGF10	84466	genome.wustl.edu	37	chr5	126746293	126746293	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggaaaacactcataGgtgagtgtcagcttcccctg	10	9	9	13	0	2	1	2	1	0	0	3	2	3	2	4	2	2	1	4	2	3	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:126746293G>A	ENST00000274473.6	+	10	1397	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N	MEGF10_ENST00000508365.1_Splice_Site_p.S377N|MEGF10_ENST00000503335.2_Splice_Site_p.S377N|MEGF10_ENST00000418761.2_Splice_Site_p.S377N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	377	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AACACTCATAGGTGAGTGTCA	0.527																																																	0													42	36	38					5																	126746293		2203	4300	6503	SO:0001630	splice_region_variant	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1130+1G>A	5.37:g.126746293G>A			Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.S377N	ENST00000274473.6	37	c.1130	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.128978	0.94473	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.93	5.93	0.95920	EGF-like, laminin (2);	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	M	0.83223	2.63	0.80722	D	1	D;D	0.71674	0.974;0.998	P;D	0.73708	0.877;0.981	T	0.65228	-0.6219	10	0.18276	T	0.48	-36.3469	20.3539	0.98825	0.0:0.0:1.0:0.0	.	377;377	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	N	377	ENSP00000423354:S377N;ENSP00000423195:S377N;ENSP00000416284:S377N;ENSP00000274473:S377N	ENSP00000274473:S377N	S	+	2	0	MEGF10	126774192	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.995000	0.88328	2.826000	0.97356	0.655000	0.94253	AGC	MEGF10	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin	ENSG00000145794		0.527	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	-	0	46	0	G	NM_032446	Missense_Mutation	126746293	1	tier1	-	no_errors	ENST00000274473	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	A	A	126746293	G	A	126746293	5	1	31	1	0	0	0	0	0	0	1	0	9498	1014	35	3	1160	3	MEGF10	5	126746293	Splice_Site	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	14325340	126746293	54168967	81	7436											
TAF7	6879	genome.wustl.edu	37	chr5	140698912	140698912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatgctgggtctcatCttcatcctcactgctgctgc	5	15	8	13	0	5	1	3	1	3	0	7	1	6	1	1	1	4	3	1	1	0	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr5:140698912C>A	ENST00000313368.5	-	1	1418	c.700G>T	c.(700-702)Gat>Tat	p.D234Y		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	234					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGTCTCATCTTCATCCTCA	0.453																																																	0													190	180	184					5																	140698912		2203	4300	6503	SO:0001583	missense	0			AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.700G>T	5.37:g.140698912C>A	ENSP00000312709:p.Asp234Tyr		B2RBV9|Q13036	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.D234Y	ENST00000313368.5	37	c.700	CCDS4259.1	5	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912690	0.72983	.	.	ENSG00000178913	ENST00000313368	T	0.28255	1.62	4.5	4.5	0.54988	.	0.104106	0.64402	D	0.000004	T	0.42426	0.1202	M	0.75264	2.295	0.58432	D	0.999999	D	0.56521	0.976	P	0.47744	0.556	T	0.49283	-0.8956	10	0.59425	D	0.04	-19.2376	15.1915	0.73047	0.0:1.0:0.0:0.0	.	234	Q15545	TAF7_HUMAN	Y	234	ENSP00000312709:D234Y	ENSP00000312709:D234Y	D	-	1	0	TAF7	140679096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.824000	0.75288	2.532000	0.85374	0.650000	0.86243	GAT	TAF7	-	NULL	ENSG00000178913		0.453	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF7	HGNC	protein_coding	OTTHUMT00000251823.2	-	0	33	0	C	NM_005642		140698912	-1	tier1	-	no_errors	ENST00000313368	ensembl	human	known	74_37	missense	64.00	9	16	SNP	1.000	A	A	140698912	C	A	140698912	3	1	31	1	0	0	0	0	1	0	0	0	15579	913	32	3	353	3	TAF7	5	140698912	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	13952619	140698912	40216348	82	7437											
GCM2	9247	genome.wustl.edu	37	chr6	10877517	10877517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtggttgttggtgttgcGcatggcccagccgctcaggt	4	13	15	9	2	1	0	1	0	0	0	1	0	1	0	2	4	2	5	2	4	0	4	rs532834782		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:10877517G>A	ENST00000379491.4	-	2	346	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	67					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTGGTGTTGCGCATGGCCCAG	0.597																																																	0													97	77	84					6																	10877517		2203	4300	6503	SO:0001583	missense	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.199C>T	6.37:g.10877517G>A	ENSP00000368805:p.Arg67Cys		D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.R67C	ENST00000379491.4	37	c.199	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326977	0.81690	.	.	ENSG00000124827	ENST00000379491	T	0.80994	-1.44	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89040	0.6602	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90286	0.4319	10	0.87932	D	0	-20.4115	14.6371	0.68696	0.0:0.0:0.8546:0.1454	.	67	O75603	GCM2_HUMAN	C	67	ENSP00000368805:R67C	ENSP00000368805:R67C	R	-	1	0	GCM2	10985503	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.763000	0.55257	2.679000	0.91253	0.650000	0.86243	CGC	GCM2	-	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	ENSG00000124827		0.597	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1		0	36	0	G			10877517	-1			no_errors	ENST00000379491	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	A	A	10877517	G	A	10877517	3	1	31	1	0	0	0	0	1	0	0	0	6323	1087	38	1	1337	1	GCM2	6	10877517	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		10877517	160237550	83	7438											
KDM1B	221656	genome.wustl.edu	37	chr6	18215271	18215271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtctgtgattgccGgggaggctgtcgcatccgtg	4	12	16	9	3	1	2	0	2	1	0	3	3	2	3	2	3	2	3	2	3	0	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:18215271G>T	ENST00000297792.5	+	16	1624	c.1447G>T	c.(1447-1449)Ggg>Tgg	p.G483W	KDM1B_ENST00000546309.2_Missense_Mutation_p.G6W|KDM1B_ENST00000397244.1_Missense_Mutation_p.G484W|KDM1B_ENST00000388870.2_Missense_Mutation_p.G716W			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	715					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TGTGATTGCCGGGGAGGCTGT	0.567																																																	0													77	73	74					6																	18215271		2203	4300	6503	SO:0001583	missense	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1447G>T	6.37:g.18215271G>T	ENSP00000297792:p.Gly483Trp		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.G716W	ENST00000297792.5	37	c.2146	CCDS34343.1	6	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281140	0.80692	.	.	ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45	5.99	5.99	0.97316	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98563	1.0642	10	0.87932	D	0	-2.9655	20.4753	0.99175	0.0:0.0:1.0:0.0	.	532;715;483	A2A2C4;Q8NB78;A2A2C6	.;KDM1B_HUMAN;.	W	6;716;484;483;713	ENSP00000442670:G6W;ENSP00000373522:G716W;ENSP00000380419:G484W;ENSP00000297792:G483W	ENSP00000297792:G483W	G	+	1	0	KDM1B	18323250	1.000000	0.71417	0.633000	0.29310	0.473000	0.32948	9.830000	0.99415	2.844000	0.97970	0.650000	0.86243	GGG	KDM1B	-	pfam_Amino_oxidase	ENSG00000165097		0.567	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	-	0	37	0	G	NM_153042		18215271	1	tier1	-	no_errors	ENST00000388870	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	18215271	G	T	18215271	3	4	31	1	0	0	0	0	1	0	0	0	8150	1116	39	2	1501	2	KDM1B	6	18215271	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	7337754	18215271	152899796	84	7439											
DCDC2	51473	genome.wustl.edu	37	chr6	24205236	24205236	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggagattacctgatcGactggaacctcaacctgagt	11	9	11	10	1	1	3	1	2	0	1	2	6	1	4	3	3	3	1	3	3	3	1	rs9467075	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:24205236G>T	ENST00000378454.3	-	8	1318	c.1017C>A	c.(1015-1017)gtC>gtA	p.V339V	DCDC2_ENST00000378450.3_Silent_p.V92V	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	339					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TTACCTGATCGACTGGAACCT	0.398																																																	0													238	220	226					6																	24205236		2203	4299	6502	SO:0001819	synonymous_variant	0			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.1017C>A	6.37:g.24205236G>T			Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V339	ENST00000378454.3	37	c.1017	CCDS4550.1	6																																																																																			DCDC2	-	NULL	ENSG00000146038		0.398	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2	HGNC	protein_coding	OTTHUMT00000043604.1	-	0	79	0	G	NM_016356		24205236	-1	tier1	-	no_errors	ENST00000378454	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.001	T	T	24205236	G	T	24205236	2	4	31	1	0	0	0	0	0	0	0	1	4294	1045	37	2		2	DCDC2	6	24205236	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	5989965	24205236	146909831	85	7440											
KIAA0319	9856	genome.wustl.edu	37	chr6	24564464	24564464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggcagtgtctgtgtcCgaggccccctgactgtcggt	5	10	14	12	2	1	1	0	1	1	0	3	2	2	1	3	3	0	1	3	3	0	0	rs571054596		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:24564464C>T	ENST00000378214.3	-	15	2921	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	KIAA0319_ENST00000537886.1_Silent_p.S799S|KIAA0319_ENST00000543707.1_Silent_p.S799S|KIAA0319_ENST00000430948.2_Silent_p.S754S|KIAA0319_ENST00000535378.1_Silent_p.S790S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	799	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGTCTGTGTCCGAGGCCCCCT	0.597													C|||	1	0.000199681	0	0	5008	,	,		18545	0		0	False		,,,				2504	0.001																0													87	71	76					6																	24564464		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2397G>A	6.37:g.24564464C>T			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S799	ENST00000378214.3	37	c.2397	CCDS34348.1	6																																																																																			KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.597	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	70	0	C	NM_014809		24564464	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	silent	41.05	56	39	SNP	0.099	T	T	24564464	C	T	24564464	2	4	31	1	0	0	0	0	0	0	0	1	8195	639	23	1		1	KIAA0319	6	24564464	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	359228	24564464	146550603	86	7441											
OR2B2	81697	genome.wustl.edu	37	chr6	27879293	27879293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccatctttccccggtCtttggagctgggtgaaggtg	8	11	13	9	1	2	2	0	1	2	1	3	3	3	3	3	4	2	1	3	4	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:27879293C>A	ENST00000303324.2	-	1	881	c.805G>T	c.(805-807)Gac>Tac	p.D269Y		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TTTCCCCGGTCTTTGGAGCTG	0.443																																																	0													87	82	84					6																	27879293		2203	4300	6503	SO:0001583	missense	0			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"GPCR / Class A : Olfactory receptors"	13966	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily B, member 9"	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.805G>T	6.37:g.27879293C>A	ENSP00000304419:p.Asp269Tyr		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D269Y	ENST00000303324.2	37	c.805	CCDS4641.1	6	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017837	0.19355	.	.	ENSG00000168131	ENST00000303324	T	0.00152	8.66	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000934	T	0.00241	0.0007	M	0.88640	2.97	0.09310	N	1	D	0.69078	0.997	D	0.70227	0.968	T	0.13282	-1.0515	10	0.87932	D	0	.	9.0305	0.36256	0.0:0.8951:0.0:0.1049	.	269	Q9GZK3	OR2B2_HUMAN	Y	269	ENSP00000304419:D269Y	ENSP00000304419:D269Y	D	-	1	0	OR2B2	27987272	0.005000	0.15991	1.000000	0.80357	0.031000	0.12232	1.051000	0.30417	2.371000	0.80710	0.563000	0.77884	GAC	OR2B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000168131		0.443	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B2	HGNC	protein_coding	OTTHUMT00000040163.1	-	0	91	0	C			27879293	-1	tier1	-	no_errors	ENST00000303324	ensembl	human	known	74_37	missense	13.27	85	13	SNP	0.072	A	A	27879293	C	A	27879293	3	1	31	1	0	0	0	0	1	0	0	0	11028	913	32	3	272	3	OR2B2	6	27879293	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	3314829	27879293	143235774	87	7442											
HLA-F	3134	genome.wustl.edu	37	chr6	29691240	29691240	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagacgcggaggttggggtCatggcgccccgaagcctcct	6	6	15	14	4	1	1	1	0	0	1	2	3	2	2	5	5	1	1	5	5	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:29691240C>T	ENST00000376861.1	+	0	384				HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000259951.7_5'UTR|HLA-F_ENST00000434407.2_5'Flank|HLA-F_ENST00000334668.4_5'UTR			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGTTGGGGTCATGGCGCCCC	0.627																																																	0													44	56	52					6																	29691240		1462	2702	4164	SO:0001623	5_prime_UTR_variant	0			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.-1C>T	6.37:g.29691240C>T			Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	RNA	SNP	-	NULL	ENST00000376861.1	37	NULL	CCDS43438.1	6																																																																																			HLA-F	-	-	ENSG00000204642		0.627	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	-	0	107	0	C	NM_018950		29691240	1	tier1	-	no_errors	ENST00000462777	ensembl	human	known	74_37	rna	32.46	77	37	SNP	0.022	T	T	29691240	C	T	29691240	1	4	31	0	1	0	0	0	0	0	0	0	7238	841	29	3		3	HLA-F	6	29691240	5'UTR	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1811947	29691240	141423827	88	7443											
SCUBE3	222663	genome.wustl.edu	37	chr6	35211895	35211895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatttccttccaagacTgtgacaccaaaggtgagtaa	12	9	10	10	0	0	3	0	2	0	1	2	3	2	3	4	2	0	1	4	2	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:35211895T>A	ENST00000274938.7	+	17	2227	c.2227T>A	c.(2227-2229)Tgt>Agt	p.C743S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.C759S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTTCCAAGACTGTGACACCAA	0.572																																																	0													81	72	75					6																	35211895		2203	4300	6503	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2227T>A	6.37:g.35211895T>A	ENSP00000274938:p.Cys743Ser			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.C759S	ENST00000274938.7	37	c.2275	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008063	0.75046	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.86865	-2.18;-2.18	5.75	5.75	0.90469	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	H	0.98276	4.19	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	D	0.97732	1.0203	10	0.87932	D	0	.	16.0545	0.80788	0.0:0.0:0.0:1.0	.	759;743	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	S	759;743	ENSP00000378174:C759S;ENSP00000274938:C743S	ENSP00000274938:C743S	C	+	1	0	SCUBE3	35319873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.195000	0.70347	0.533000	0.62120	TGT	SCUBE3	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom	ENSG00000146197		0.572	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0	44	0	T	NM_152753		35211895	1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	35211895	T	A	35211895	3	1	31	1	0	0	0	0	1	0	0	0	13991	1580	55	5	2293	5	SCUBE3	6	35211895	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	5520655	35211895	135903172	89	7444											
LRFN2	57497	genome.wustl.edu	37	chr6	40399644	40399644	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacctccccggctggtcttGctggagccagtgatgtctga	5	10	12	14	1	2	2	0	2	2	0	3	3	3	3	5	3	2	2	5	3	0	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:40399644G>A	ENST00000338305.6	-	2	1751	c.1209C>T	c.(1207-1209)agC>agT	p.S403S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	403						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGGTCTTGCTGGAGCCAG	0.662																																																	0													43	44	44					6																	40399644		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1209C>T	6.37:g.40399644G>A			A5PKU3|Q5SYP9	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S403	ENST00000338305.6	37	c.1209	CCDS34443.1	6																																																																																			LRFN2	-	NULL	ENSG00000156564		0.662	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	-	0	90	0	G	XM_166372		40399644	-1	tier1	-	no_errors	ENST00000338305	ensembl	human	known	74_37	silent	19.54	70	17	SNP	1.000	A	A	40399644	G	A	40399644	2	1	31	1	0	0	0	0	0	0	0	1	8973	1310	46	3		3	LRFN2	6	40399644	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	5187749	40399644	130715423	90	7445											
TDRD6	221400	genome.wustl.edu	37	chr6	46657521	46657521	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtggaaagaaaatggttaTtatagggccatagtcaccaa	17	9	10	5	0	1	1	1	0	0	1	1	2	1	2	2	3	0	1	2	3	9	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:46657521T>C	ENST00000316081.6	+	1	1656	c.1656T>C	c.(1654-1656)taT>taC	p.Y552Y	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Silent_p.Y552Y	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	552	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAATGGTTATTATAGGGCCA	0.428																																																	0													149	151	150					6																	46657521		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1656T>C	6.37:g.46657521T>C			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.Y552	ENST00000316081.6	37	c.1656	CCDS34470.1	6																																																																																			TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000180113		0.428	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0	146	0	T	XM_166443		46657521	1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	silent	42.47	107	79	SNP	0.979	C	C	46657521	T	C	46657521	2	2	31	1	0	0	0	0	0	0	0	1	15781	1500	52	4		4	TDRD6	6	46657521	Silent	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	6257877	46657521	124457546	91	7446											
B3GAT2	135152	genome.wustl.edu	37	chr6	71571660	71571660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggattggacaaaatgActtgaagacttacagcaaat	15	12	8	6	0	0	3	0	2	0	1	0	5	0	5	0	2	2	1	0	2	5	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:71571660A>T	ENST00000230053.6	-	3	1366	c.758T>A	c.(757-759)gTc>gAc	p.V253D	SMAP1_ENST00000370455.3_3'UTR	NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	253					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GGACAAAATGACTTGAAGACT	0.353																																																	0													76	77	77					6																	71571660		2203	4300	6503	SO:0001583	missense	0			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.758T>A	6.37:g.71571660A>T	ENSP00000230053:p.Val253Asp		Q5JS09|Q8TF38|Q96NK4	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.V253D	ENST00000230053.6	37	c.758	CCDS4974.1	6	.	.	.	.	.	.	.	.	.	.	A	27.9	4.876597	0.91664	.	.	ENSG00000112309	ENST00000230053	T	0.65178	-0.14	5.51	5.51	0.81932	.	0.061028	0.64402	D	0.000004	T	0.75295	0.3830	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	T	0.79867	-0.1622	10	0.87932	D	0	-3.0583	15.6117	0.76727	1.0:0.0:0.0:0.0	.	181;253	Q29RV3;Q9NPZ5	.;B3GA2_HUMAN	D	253	ENSP00000230053:V253D	ENSP00000230053:V253D	V	-	2	0	B3GAT2	71628381	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.339000	0.96797	2.086000	0.62901	0.528000	0.53228	GTC	B3GAT2	-	pfam_Glyco_trans_43	ENSG00000112309		0.353	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT2	HGNC	protein_coding	OTTHUMT00000041150.2	-	0	24	0	A	NM_080742		71571660	-1	tier1	-	no_errors	ENST00000230053	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	T	T	71571660	A	T	71571660	3	4	31	1	0	0	0	0	1	0	0	0	1255	275	10	5	221	5	B3GAT2	6	71571660	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	24914139	71571660	99543407	92	7447											
C6orf167	253714	genome.wustl.edu	37	chr6	97676779	97676779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaaccatacctgattctgGccagaacagcttgtaggaag	14	8	10	9	0	1	2	0	1	1	1	1	4	1	3	3	2	4	2	3	2	6	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:97676779G>A	ENST00000275053.4	-	14	2295	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V	MMS22L_ENST00000369251.2_Missense_Mutation_p.A637V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	677					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCTGATTCTGGCCAGAACAGC	0.323																																																	0													75	75	75					6																	97676779		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.2030C>T	6.37:g.97676779G>A	ENSP00000275053:p.Ala677Val		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A677V	ENST00000275053.4	37	c.2030	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175831	0.78564	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.36157	1.27;1.27	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.45155	0.1328	M	0.69823	2.125	0.58432	D	0.999998	D;P	0.61697	0.99;0.902	P;P	0.59825	0.864;0.52	T	0.34527	-0.9825	10	0.41790	T	0.15	-8.1437	13.7763	0.63055	0.0733:0.0:0.9267:0.0	.	637;677	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	V	677;637	ENSP00000275053:A677V;ENSP00000358254:A637V	ENSP00000275053:A677V	A	-	2	0	MMS22L	97783500	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.865000	0.75500	2.630000	0.89119	0.591000	0.81541	GCC	MMS22L	-	NULL	ENSG00000146263		0.323	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	90	0	G	NM_198468		97676779	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	97676779	G	A	97676779	3	1	31	1	0	0	0	0	1	0	0	0	2349	1203	42	3	1749	3	C6orf167	6	97676779	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	26105119	97676779	73438288	93	7448											
MAP3K4	4216	genome.wustl.edu	37	chr6	161494611	161494611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccgactgcaacattgaCgcttttgaagaggatctaca	13	9	9	10	2	1	3	0	2	1	1	1	5	1	4	1	1	4	2	1	1	4	4	rs374997561		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:161494611C>T	ENST00000392142.4	+	5	2212	c.2064C>T	c.(2062-2064)gaC>gaT	p.D688D	MAP3K4_ENST00000366919.2_Silent_p.D688D|MAP3K4_ENST00000366920.2_Silent_p.D688D|MAP3K4_ENST00000348824.7_Silent_p.D688D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	688					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCAACATTGACGCTTTTGAAG	0.443																																																	0								C	,	0,4406		0,0,2203	104	107	106		2064,2064	-4	0.4	6		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MAP3K4	NM_005922.2,NM_006724.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	688/1609,688/1559	161494611	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2064C>T	6.37:g.161494611C>T			A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D688	ENST00000392142.4	37	c.2064	CCDS34565.1	6																																																																																			MAP3K4	-	NULL	ENSG00000085511		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0	62	0	C			161494611	1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.912	T	T	161494611	C	T	161494611	2	4	31	1	0	0	0	0	0	0	0	1	9290	535	19	1		1	MAP3K4	6	161494611	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	63817832	161494611	9620456	94	7449											
C6orf118	168090	genome.wustl.edu	37	chr6	165715620	165715620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagcttgttggggttcAggtgtccagagatgtagagg	8	11	18	4	0	1	3	1	0	0	3	2	4	2	3	1	5	1	5	1	5	2	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr6:165715620A>G	ENST00000230301.8	-	2	211	c.191T>C	c.(190-192)cTg>cCg	p.L64P	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	64										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GTTGGGGTTCAGGTGTCCAGA	0.587																																																	0													110	121	117					6																	165715620		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.191T>C	6.37:g.165715620A>G	ENSP00000230301:p.Leu64Pro		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.L64P	ENST00000230301.8	37	c.191	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773389	0.49786	.	.	ENSG00000112539	ENST00000230301	T	0.43294	0.95	5.31	5.31	0.75309	.	0.000000	0.53938	D	0.000049	T	0.53498	0.1800	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60214	-0.7307	10	0.87932	D	0	.	12.826	0.57721	1.0:0.0:0.0:0.0	.	64	Q5T5N4	CF118_HUMAN	P	64	ENSP00000230301:L64P	ENSP00000230301:L64P	L	-	2	0	C6orf118	165635610	1.000000	0.71417	0.995000	0.50966	0.172000	0.22775	4.774000	0.62339	2.012000	0.59069	0.533000	0.62120	CTG	C6orf118	-	NULL	ENSG00000112539		0.587	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	22	0	A	NM_144980		165715620	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	G	G	165715620	A	G	165715620	3	3	31	1	0	0	0	0	1	0	0	0	2330	188	7	4	1250	4	C6orf118	6	165715620	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	4221009	165715620	5399447	95	7450											
ZMIZ2	83637	genome.wustl.edu	37	chr7	44798936	44798936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcacccagcaccgcccaGtttgcgcccagccctgggca	7	6	10	18	2	0	0	0	0	0	0	0	0	0	0	5	1	4	4	5	1	1	2	rs377637200		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:44798936G>T	ENST00000309315.4	+	7	993	c.870G>T	c.(868-870)caG>caT	p.Q290H	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.Q290H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.Q258H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.Q258H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.Q290H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	290	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.Q290H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCACCGCCCAGTTTGCGCCCA	0.637																																					NSCLC(20;604 852 1948 16908 50522)												1	Substitution - Missense(1)	endometrium(1)											76	88	84					7																	44798936		2059	4176	6235	SO:0001583	missense	0			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"Zinc fingers, MIZ-type"	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.870G>T	7.37:g.44798936G>T	ENSP00000311778:p.Gln290His		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.Q290H	ENST00000309315.4	37	c.870	CCDS43576.1	7	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354802	0.61293	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.28	3.3	0.37823	.	0.000000	0.50627	D	0.000112	T	0.49525	0.1562	M	0.75777	2.31	0.51233	D	0.999914	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.971;0.998	T	0.51450	-0.8704	10	0.87932	D	0	-7.0134	6.6087	0.22739	0.274:0.0:0.726:0.0	.	290;290;258	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	H	258;290;290;258;290;290	ENSP00000409648:Q258H;ENSP00000311778:Q290H;ENSP00000414723:Q290H;ENSP00000396601:Q258H;ENSP00000265346:Q290H	ENSP00000265346:Q290H	Q	+	3	2	ZMIZ2	44765461	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	1.754000	0.38369	2.198000	0.70561	0.462000	0.41574	CAG	ZMIZ2	-	NULL	ENSG00000122515		0.637	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ2	HGNC	protein_coding	OTTHUMT00000341790.1		0	39	0	G	NM_031449		44798936	1			no_errors	ENST00000309315	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	44798936	G	T	44798936	3	4	31	1	0	0	0	0	1	0	0	0	17745	1020	36	3	892	3	ZMIZ2	7	44798936	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		44798936	114339727	96	7451											
CCM2	83605	genome.wustl.edu	37	chr7	45113868	45113868	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggctctgctctcttgcaGctgcgcaccaagctgtcatc	5	12	9	15	1	4	0	1	0	3	0	6	0	4	0	1	1	5	6	1	1	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:45113868G>T	ENST00000258781.6	+	9	1064		c.e9-1		CCM2_ENST00000461377.1_Splice_Site|CCM2_ENST00000474617.1_Splice_Site|CCM2_ENST00000475551.1_Splice_Site|CCM2_ENST00000541586.1_Splice_Site|CCM2_ENST00000381112.3_Splice_Site|CCM2_ENST00000544363.1_Splice_Site	NM_031443.3	NP_113631.1	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2						blood vessel endothelial cell differentiation (GO:0060837)|cell-cell junction organization (GO:0045216)|endothelial cell development (GO:0001885)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|integrin-mediated signaling pathway (GO:0007229)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|stress-activated MAPK cascade (GO:0051403)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)	cytoplasm (GO:0005737)|protein complex (GO:0043234)				NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCTCTTGCAGCTGCGCACCA	0.607																																																	0													51	48	49					7																	45113868		2203	4300	6503	SO:0001630	splice_region_variant	0			BC004903	CCDS5500.1, CCDS34630.1, CCDS55108.1, CCDS55109.1	7p13	2014-09-17	2004-02-13	2004-02-18	ENSG00000136280	ENSG00000136280			21708	protein-coding gene	gene with protein product	"malcavernin"	607929	"chromosome 7 open reading frame 22"	C7orf22		9811928	Standard	NM_001029835		Approved	MGC4607	uc003tms.3	Q9BSQ5	OTTHUMG00000129246	ENST00000258781.6:c.916-1G>T	7.37:g.45113868G>T			A4D2L4|B3KUV0|D3DVL4|E9PDJ3|F5H0E1|F5H551|Q71RE5|Q8TAT4	Splice_Site	SNP	-	e9-1	ENST00000258781.6	37	c.979-1	CCDS5500.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045729	0.75846	.	.	ENSG00000136280	ENST00000258781;ENST00000541586;ENST00000544363;ENST00000475551;ENST00000381112;ENST00000474617	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7483	0.88427	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCM2	45080393	1.000000	0.71417	0.842000	0.33263	0.825000	0.46686	9.856000	0.99531	2.613000	0.88420	0.561000	0.74099	.	CCM2	-	-	ENSG00000136280		0.607	CCM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCM2	HGNC	protein_coding	OTTHUMT00000251348.1	-	0	52	0	G	NM_031443	Intron	45113868	1	tier1	-	no_errors	ENST00000381112	ensembl	human	known	74_37	splice_site	7.14	52	4	SNP	1.000	T	T	45113868	G	T	45113868	5	4	31	1	0	0	0	0	0	0	1	0	2915	985	34	3	1046	3	CCM2	7	45113868	Splice_Site	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	314932	45113868	114024795	97	7452											
ADCY1	107	genome.wustl.edu	37	chr7	45614684	45614684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgctgcccgtgcgcaGcctgctggccataggctttg	3	11	13	14	2	0	0	0	0	0	0	0	0	0	0	4	2	6	4	4	2	1	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:45614684G>T	ENST00000297323.7	+	1	564	c.542G>T	c.(541-543)aGc>aTc	p.S181I	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	181					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCCGTGCGCAGCCTGCTGGCC	0.672																																																	0													21	18	19					7																	45614684		2188	4279	6467	SO:0001583	missense	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.542G>T	7.37:g.45614684G>T	ENSP00000297323:p.Ser181Ile		A4D2L8|Q75MI1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S181I	ENST00000297323.7	37	c.542	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	G	10.46	1.356582	0.24598	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.78481	-1.18	3.7	3.7	0.42460	.	0.060259	0.64402	D	0.000006	T	0.64438	0.2598	L	0.29908	0.895	0.36759	D	0.883168	B	0.06786	0.001	B	0.06405	0.002	T	0.66176	-0.5989	10	0.46703	T	0.11	.	9.1177	0.36769	0.0:0.2249:0.7751:0.0	.	181	Q08828	ADCY1_HUMAN	I	181	ENSP00000297323:S181I	ENSP00000297323:S181I	S	+	2	0	ADCY1	45581209	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.618000	0.61211	1.879000	0.54435	0.205000	0.17691	AGC	ADCY1	-	NULL	ENSG00000164742		0.672	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	-	0	70	0	G	NM_021116		45614684	1	tier1	-	no_errors	ENST00000297323	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	45614684	G	T	45614684	3	4	31	1	0	0	0	0	1	0	0	0	292	971	34	3	544	3	ADCY1	7	45614684	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	500816	45614684	113523979	98	7453											
IGFBP3	3486	genome.wustl.edu	37	chr7	45956987	45956987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgtgctggagacggacGggctctccacactgccggcg	5	6	17	13	5	1	1	0	0	1	1	2	3	1	2	2	5	3	2	2	5	0	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:45956987G>A	ENST00000275521.6	-	2	588	c.455C>T	c.(454-456)cCg>cTg	p.P152L	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.P158L|IGFBP3_ENST00000381086.5_Missense_Mutation_p.P55L	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	152	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	GGAGACGGACGGGCTCTCCAC	0.527											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70	68	68					7																	45956987		2203	4300	6503	SO:0001583	missense	0				CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"growth hormone-dependent binding protein", "acid stable subunit of the 140 K IGF complex", "binding protein 53", "binding protein 29", "IGF-binding protein 3"	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.455C>T	7.37:g.45956987G>A	ENSP00000275521:p.Pro152Leu	935	A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1	p.P158L	ENST00000275521.6	37	c.473	CCDS5505.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.767|8.767	0.925103|0.925103	0.18056|0.18056	.|.	.|.	ENSG00000146674|ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817|ENST00000428530	T;T;T;T|.	0.25085|.	2.43;1.82;2.43;1.82|.	5.55|5.55	0.4|0.4	0.16331|0.16331	.|.	5.133940|.	0.00166|.	N|.	0.000003|.	T|T	0.09158|0.09158	0.0226|0.0226	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.10296|.	0.001;0.002;0.003|.	B;B;B|.	0.06405|.	0.001;0.002;0.002|.	T|T	0.30707|0.30707	-0.9969|-0.9969	10|5	0.33141|.	T|.	0.24|.	-12.1522|-12.1522	3.0464|3.0464	0.06155|0.06155	0.1296:0.081:0.3944:0.395|0.1296:0.081:0.3944:0.395	.|.	55;152;137|.	B3KWK7;P17936;B4DN53|.	.;IBP3_HUMAN;.|.	L|C	129;152;55;138;50;158;124;42|4	ENSP00000275521:P152L;ENSP00000370476:P55L;ENSP00000370473:P158L;ENSP00000389668:P42L|.	ENSP00000275521:P152L|.	P|R	-|-	2|1	0|0	IGFBP3|IGFBP3	45923512|45923512	0.707000|0.707000	0.27866|0.27866	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.657000|0.657000	0.24963|0.24963	-0.200000|-0.200000	0.10300|0.10300	-1.268000|-1.268000	0.01426|0.01426	CCG|CGT	IGFBP3	-	NULL	ENSG00000146674		0.527	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGFBP3	HGNC	protein_coding	OTTHUMT00000251356.3	-	0	48	0	G	NM_001013398		45956987	-1	tier1	-	no_errors	ENST00000381083	ensembl	human	known	74_37	missense	20.93	34	9	SNP	0.003	A	A	45956987	G	A	45956987	3	1	31	1	0	0	0	0	1	0	0	0	7607	1116	39	1	432	1	IGFBP3	7	45956987	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	342303	45956987	113181676	99	7454											
CALCR	799	genome.wustl.edu	37	chr7	93108802	93108802	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatttgaaaaggcaggAagaattggggttgggtgctg	10	12	17	2	0	0	3	0	2	0	1	0	4	0	4	0	5	1	4	0	5	4	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:93108802A>T	ENST00000394441.1	-	3	384	c.69T>A	c.(67-69)ctT>ctA	p.L23L	CALCR_ENST00000359558.2_Silent_p.L41L|CALCR_ENST00000421592.1_Silent_p.L23L|CALCR_ENST00000360249.4_Silent_p.L23L|CALCR_ENST00000426151.1_Silent_p.L23L	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	41					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AAAAGGCAGGAAGAATTGGGG	0.378																																																	0													126	122	124					7																	93108802		2203	4300	6503	SO:0001819	synonymous_variant	0			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"GPCR / Class B : Calcitonin receptors"	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.69T>A	7.37:g.93108802A>T			A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt	p.L41	ENST00000394441.1	37	c.123	CCDS5631.1	7																																																																																			CALCR	-	NULL	ENSG00000004948		0.378	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	HGNC	protein_coding	OTTHUMT00000254661.2	-	0	35	0	A	NM_001742		93108802	-1	tier1	-	no_errors	ENST00000359558	ensembl	human	known	74_37	silent	42.86	12	9	SNP	0.012	T	T	93108802	A	T	93108802	2	4	31	1	0	0	0	0	0	0	0	1	2586	233	9	5		5	CALCR	7	93108802	Silent	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	47151815	93108802	66029861	100	7455											
SRRT	51593	genome.wustl.edu	37	chr7	100484427	100484427	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatcagagcctgccctcGcaaaacccgatcttgaagaa	12	7	7	15	2	2	3	1	1	1	2	4	4	3	3	4	0	3	1	4	0	4	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:100484427G>T	ENST00000347433.4	+	14	1817	c.1659G>T	c.(1657-1659)tcG>tcT	p.S553S	SRRT_ENST00000388793.4_Silent_p.S552S|SRRT_ENST00000432932.1_Silent_p.S552S|SRRT_ENST00000457580.2_Silent_p.S553S			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	553					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCCTGCCCTCGCAAAACCCGA	0.572																																																	0													35	35	35					7																	100484427		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.1659G>T	7.37:g.100484427G>T			A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.S552	ENST00000347433.4	37	c.1656	CCDS34709.1	7																																																																																			SRRT	-	NULL	ENSG00000087087		0.572	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	-	0	29	0	G	NM_015908		100484427	1	tier1	-	no_errors	ENST00000388793	ensembl	human	known	74_37	silent	10.53	33	4	SNP	0.031	T	T	100484427	G	T	100484427	2	4	31	1	0	0	0	0	0	0	0	1	15219	1074	38	2		2	SRRT	7	100484427	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	7375625	100484427	58654236	101	7456											
DLD	1738	genome.wustl.edu	37	chr7	107558429	107558429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcagagctaagacaaatGctgacacagatggcatggtg	15	6	12	8	0	0	4	0	1	0	3	0	4	0	4	0	2	3	4	0	2	2	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:107558429G>T	ENST00000205402.5	+	12	1578	c.1297G>T	c.(1297-1299)Gct>Tct	p.A433S	DLD_ENST00000437604.2_Missense_Mutation_p.A385S|DLD_ENST00000440410.1_Missense_Mutation_p.A410S|DLD_ENST00000537148.1_Missense_Mutation_p.A334S	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	433					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	TAAGACAAATGCTGACACAGA	0.433																																																	0													136	128	131					7																	107558429		2203	4300	6503	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.1297G>T	7.37:g.107558429G>T	ENSP00000205402:p.Ala433Ser		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH	p.A433S	ENST00000205402.5	37	c.1297	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888685	0.33348	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98	6.17	6.17	0.99709	FAD/NAD-linked reductase, dimerisation (1);Pyridine nucleotide-disulphide oxidoreductase, dimerisation (2);	0.046212	0.85682	D	0.000000	D	0.86883	0.6040	N	0.21240	0.645	0.80722	D	1	B;B;B	0.14805	0.011;0.01;0.0	B;B;B	0.22152	0.034;0.038;0.009	T	0.81079	-0.1095	10	0.07325	T	0.83	-20.2844	20.8794	0.99867	0.0:0.0:1.0:0.0	.	410;385;433	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	S	433;433;334;410;385;383	ENSP00000205402:A433S;ENSP00000390667:A433S;ENSP00000442399:A334S;ENSP00000417016:A410S;ENSP00000387542:A385S	ENSP00000205402:A433S	A	+	1	0	DLD	107345665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.897000	0.87356	2.941000	0.99782	0.655000	0.94253	GCT	DLD	-	pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_Hg_reductase,tigrfam_Lipoamide_DH	ENSG00000091140		0.433	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	HGNC	protein_coding	OTTHUMT00000337194.3	-	0	52	0	G	NM_000108		107558429	1	tier1	-	no_errors	ENST00000205402	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	107558429	G	T	107558429	3	4	31	1	0	0	0	0	1	0	0	0	4565	1319	46	3	1343	3	DLD	7	107558429	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	7074002	107558429	51580234	102	7457											
LRRC4	64101	genome.wustl.edu	37	chr7	127669037	127669037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtactccgctgctggtgccGcttacgaagtttatagaaga	9	12	11	9	3	0	2	0	0	0	2	1	3	1	2	2	1	4	5	2	1	6	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr7:127669037G>A	ENST00000249363.3	-	2	1914	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	553					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TGCTGGTGCCGCTTACGAAGT	0.532																																																	0													63	54	57					7																	127669037		2201	4300	6501	SO:0001583	missense	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1657C>T	7.37:g.127669037G>A	ENSP00000249363:p.Arg553Trp		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R553W	ENST00000249363.3	37	c.1657	CCDS5799.1	7	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633314	0.47049	.	.	ENSG00000128594	ENST00000249363	T	0.36340	1.26	4.8	3.85	0.44370	.	0.000000	0.64402	D	0.000008	T	0.52092	0.1713	L	0.57536	1.79	0.49299	D	0.999775	D	0.89917	1.0	D	0.67548	0.952	T	0.54735	-0.8249	10	0.87932	D	0	.	12.0004	0.53226	0.0:0.0:0.8167:0.1833	.	553	Q9HBW1	LRRC4_HUMAN	W	553	ENSP00000249363:R553W	ENSP00000249363:R553W	R	-	1	2	LRRC4	127456273	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	3.114000	0.50383	2.494000	0.84150	0.561000	0.74099	CGG	LRRC4	-	NULL	ENSG00000128594		0.532	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	HGNC	protein_coding	OTTHUMT00000349170.1	-	0	70	0	G	NM_022143		127669037	-1	tier1	-	no_errors	ENST00000249363	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	A	A	127669037	G	A	127669037	3	1	31	1	0	0	0	0	1	0	0	0	9032	1086	38	1	308	1	LRRC4	7	127669037	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	20110608	127669037	31469626	103	7458											
ZNF395	55893	genome.wustl.edu	37	chr8	28218519	28218519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgaaaggctggggagcGgccccttctagcagtggctc	6	8	17	10	1	1	1	0	1	1	0	2	2	1	2	2	6	2	3	2	6	2	2	rs368064690		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:28218519G>A	ENST00000344423.5	-	2	254	c.123C>T	c.(121-123)gcC>gcT	p.A41A	ZNF395_ENST00000523095.1_Silent_p.A41A|ZNF395_ENST00000523202.1_Silent_p.A41A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GCTGGGGAGCGGCCCCTTCTA	0.682																																																	0								G		1,4405		0,1,2202	22	26	25		123	-10	0	8		25	0,8600		0,0,4300	no	coding-synonymous	ZNF395	NM_018660.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		41/514	28218519	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.123C>T	8.37:g.28218519G>A			B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R342C	ENST00000344423.5	37	c.1024	CCDS6067.1	8																																																																																			FBXO16	-	NULL	ENSG00000214050		0.682	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO16	HGNC	protein_coding	OTTHUMT00000219976.1	-	0	113	0	G			28218519	-1	tier1	-	no_errors	ENST00000521548	ensembl	human	known	74_37	missense	30.85	65	29	SNP	0.000	A	A	28218519	G	A	28218519	2	1	31	1	0	0	0	0	0	0	0	1	17929	1103	39	1		1	ZNF395	8	28218519	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		28218519	118145503	104	7459											
PURG	29942	genome.wustl.edu	37	chr8	30889849	30889849	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggagggtgccgagtgcttCtgcctccttctggagccttg	3	11	16	11	1	2	0	0	0	2	0	3	3	3	2	4	4	4	1	4	4	0	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:30889849C>T	ENST00000475541.1	-	1	1382	c.450G>A	c.(448-450)caG>caA	p.Q150Q	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.Q150Q	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	150						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCGAGTGCTTCTGCCTCCTTC	0.557																																																	0													79	84	82					8																	30889849		2203	4300	6503	SO:0001819	synonymous_variant	0			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.450G>A	8.37:g.30889849C>T			Q8TE64	Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.Q150	ENST00000475541.1	37	c.450	CCDS6081.1	8																																																																																			PURG	-	pfam_PUR_DNA_RNA-bd	ENSG00000172733		0.557	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	-	0	25	0	C	NM_013357		30889849	-1	tier1	-	no_errors	ENST00000475541	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.169	T	T	30889849	C	T	30889849	2	4	31	1	0	0	0	0	0	0	0	1	12874	912	32	3		3	PURG	8	30889849	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	2671330	30889849	115474173	105	7460											
ADAM2	2515	genome.wustl.edu	37	chr8	39679180	39679180	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccttggtagtggcagaaaTtctgaaagataaaatacaca	17	9	8	7	0	1	3	0	1	1	2	1	3	1	3	1	2	1	2	1	2	6	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:39679180T>A	ENST00000265708.4	-	5	372	c.269A>T	c.(268-270)aAt>aTt	p.N90I	ADAM2_ENST00000347580.4_Splice_Site_p.N90I|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Splice_Site_p.N90I|ADAM2_ENST00000521880.1_Splice_Site_p.N90I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	90					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GTGGCAGAAATTCTGAAAGAT	0.308																																																	0													74	74	74					8																	39679180		2203	4297	6500	SO:0001630	splice_region_variant	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.268-1A>T	8.37:g.39679180T>A			P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.N90I	ENST00000265708.4	37	c.269	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007438	0.54361	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	5.51	4.36	0.52297	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.19967	0.0480	M	0.78223	2.4	0.40786	D	0.983211	B;D;B;B	0.69078	0.153;0.997;0.251;0.153	B;D;B;B	0.70487	0.179;0.969;0.112;0.179	T	0.00964	-1.1498	8	.	.	.	.	5.7126	0.17943	0.0:0.087:0.1706:0.7425	.	90;90;90;90	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	I	90	ENSP00000343854:N90I;ENSP00000369182:N90I;ENSP00000265708:N90I;ENSP00000429352:N90I	.	N	-	2	0	ADAM2	39798337	0.201000	0.23410	0.990000	0.47175	0.959000	0.62525	0.282000	0.18829	0.931000	0.37242	0.528000	0.53228	AAT	ADAM2	-	pfam_Peptidase_M12B_N	ENSG00000104755		0.308	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0	108	0	T	NM_001464	Missense_Mutation	39679180	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	41.91	79	57	SNP	0.873	A	A	39679180	T	A	39679180	5	1	31	1	0	0	0	0	0	0	1	0	241	1507	52	5	2002	5	ADAM2	8	39679180	Splice_Site	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	8789331	39679180	106684842	106	7461											
XKR4	114786	genome.wustl.edu	37	chr8	56015428	56015428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgtacttcgcggacgtggGcacagacgtctggctcgccg	5	8	15	13	7	1	1	0	0	1	1	3	2	1	2	1	3	1	3	1	3	1	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:56015428G>A	ENST00000327381.6	+	1	480	c.380G>A	c.(379-381)gGc>gAc	p.G127D		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	127						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCGGACGTGGGCACAGACGTC	0.682																																																	0													53	47	49					8																	56015428		2201	4298	6499	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.380G>A	8.37:g.56015428G>A	ENSP00000328326:p.Gly127Asp		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.G127D	ENST00000327381.6	37	c.380	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478076	0.84747	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.67523	-0.27	5.09	4.22	0.49857	.	0.453978	0.21957	N	0.066651	T	0.74291	0.3697	M	0.79614	2.46	0.49915	D	0.999833	P	0.41420	0.749	P	0.48368	0.575	T	0.76465	-0.2949	10	0.56958	D	0.05	-5.7183	13.3546	0.60621	0.0769:0.0:0.9231:0.0	.	127	Q5GH76	XKR4_HUMAN	D	127	ENSP00000328326:G127D	ENSP00000328326:G127D	G	+	2	0	XKR4	56177982	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	8.850000	0.92190	1.134000	0.42165	0.650000	0.86243	GGC	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.682	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	23	0	G	NM_052898		56015428	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	A	A	56015428	G	A	56015428	3	1	31	1	0	0	0	0	1	0	0	0	17482	1203	42	3	382	3	XKR4	8	56015428	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	16336248	56015428	90348594	107	7462											
CHD7	55636	genome.wustl.edu	37	chr8	61754274	61754276	+	Missense_Mutation	TNP	TAA	TAA	GCG																															aatttctggcaaaagtgggcTaagaaggctgaattggatat																								rs530345787		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T|A|A	T|A|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:61754274_61754276TAA>GCG	ENST00000423902.2	+	20	5084_5086	c.4605_4607TAA>GCG	c.(4603-4608)gcTAAg>gcGCGg	p.K1536R	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1536					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGTGGGCTAAGAAGGCTGAA	0.394																																																	0																																										SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4605_4607TAA>GCG	8.37:g.61754274TAA>GCG	ENSP00000392028:p.Lys1536Arg		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent|Missense_Mutation|Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1535|p.K1536Q|p.K1536R	ENST00000423902.2	37	c.4605|c.4606|c.4607	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.394	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	139|141|142	0	T|A|A	XM_098762		61754274|61754275|61754276	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent|missense|missense	14.58|14.48|14.48	123|124|124	21	SNP	0.227|1.000|1.000	G|C|G	GCG	61754276	TAA	GCG	61754274	3	3	31	1	0	0	0	0	1	0	0	0	3337	1509	53	4	4679	4	CHD7	8	61754274	Missense_Mutation	TNP	TAA	TCGA-IG-A8O2-01A-11D-A36J-09	5738846	61754274	84609748	108	7463											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75932277	75932277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaaacaactgtggaacagCtctgtccatttcataagcct	12	11	8	10	0	2	1	1	1	1	0	3	2	3	2	2	1	5	1	2	1	4	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:75932277C>G	ENST00000262207.4	+	12	1675	c.1207C>G	c.(1207-1209)Ctc>Gtc	p.L403V	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.L215V|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.L217V	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	403	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGTGGAACAGCTCTGTCCATT	0.413																																																	0													137	125	129					8																	75932277		2203	4300	6503	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1207C>G	8.37:g.75932277C>G	ENSP00000262207:p.Leu403Val		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.L403V	ENST00000262207.4	37	c.1207	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	15.23	2.773342	0.49786	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89485	-2.52;-2.52;-2.52	5.44	3.51	0.40186	LCCL (5);	0.074942	0.49305	D	0.000149	D	0.91297	0.7256	L	0.61387	1.9	0.42650	D	0.993443	D;P	0.63046	0.992;0.64	D;B	0.76071	0.987;0.334	D	0.89295	0.3622	10	0.36615	T	0.2	.	6.7372	0.23415	0.1398:0.6516:0.0:0.2086	.	217;403	B7Z929;Q9H336	.;CRLD1_HUMAN	V	403;215;217	ENSP00000262207:L403V;ENSP00000430105:L215V;ENSP00000429746:L217V	ENSP00000262207:L403V	L	+	1	0	CRISPLD1	76094832	0.983000	0.35010	1.000000	0.80357	0.999000	0.98932	0.555000	0.23422	1.537000	0.49254	0.650000	0.86243	CTC	CRISPLD1	-	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	ENSG00000121005		0.413	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	-	0	74	0	C	NM_031461		75932277	1	tier1	-	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	42.35	49	36	SNP	0.998	G	G	75932277	C	G	75932277	3	3	31	1	0	0	0	0	1	0	0	0	3889	797	28	5	1249	5	CRISPLD1	8	75932277	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	14178003	75932277	70431745	109	7464											
PEX2	5828	genome.wustl.edu	37	chr8	77896250	77896250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccataagcacgctttcacCtctggctcaaagcgagctaa	12	8	7	14	2	3	0	2	0	1	0	3	1	3	0	2	1	3	4	2	1	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:77896250C>T	ENST00000419564.2	-	4	629	c.165G>A	c.(163-165)gaG>gaA	p.E55E	PEX2_ENST00000522527.1_Silent_p.E55E|PEX2_ENST00000357039.4_Silent_p.E55E|PEX2_ENST00000520103.1_Silent_p.E55E	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	55			E -> K (in PBD5B; infantile Refsum disease). {ECO:0000269|PubMed:10528859}.		bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACGCTTTCACCTCTGGCTCAA	0.433																																																	0													69	69	69					8																	77896250		2203	4300	6503	SO:0001819	synonymous_variant	0			M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"RING-type (C3HC4) zinc fingers"	9717	protein-coding gene	gene with protein product	"Zellweger syndrome", "peroxin 2"	170993	"peroxisomal membrane protein 3 (35kD, Zellweger syndrome)", "peroxisomal membrane protein 3, 35kDa"	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.165G>A	8.37:g.77896250C>T			Q567S6|Q9BW41	Silent	SNP	pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING	p.E55	ENST00000419564.2	37	c.165	CCDS6221.1	8																																																																																			PEX2	-	pfam_Pex_N	ENSG00000164751		0.433	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX2	HGNC	protein_coding	OTTHUMT00000379122.1	-	0	92	0	C	NM_000318		77896250	-1	tier1	-	no_errors	ENST00000357039	ensembl	human	known	74_37	silent	16.67	95	19	SNP	0.996	T	T	77896250	C	T	77896250	2	4	31	1	0	0	0	0	0	0	0	1	11784	680	24	3		3	PEX2	8	77896250	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1963973	77896250	68467772	110	7465											
VPS13B	157680	genome.wustl.edu	37	chr8	100286546	100286546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggatcaataaaaatttGtgccaaagccccaggtatgt	14	10	9	8	0	1	0	1	0	0	0	1	1	1	1	3	2	2	1	3	2	6	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:100286546G>T	ENST00000358544.2	+	18	2747	c.2636G>T	c.(2635-2637)tGt>tTt	p.C879F	VPS13B_ENST00000395996.1_Missense_Mutation_p.C879F|VPS13B_ENST00000357162.2_Missense_Mutation_p.C879F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	879					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAAAAATTTGTGCCAAAGCC	0.448																																					Colon(161;2205 2542 7338 31318)												0													88	93	91					8																	100286546		2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2636G>T	8.37:g.100286546G>T	ENSP00000351346:p.Cys879Phe		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.C879F	ENST00000358544.2	37	c.2636	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236673	0.39498	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.67698	-0.28;-0.28;0.02	5.65	5.65	0.86999	.	0.066374	0.64402	D	0.000005	T	0.64148	0.2572	L	0.29908	0.895	0.53688	D	0.999979	P;P;P;P	0.51537	0.946;0.892;0.828;0.83	P;P;B;P	0.50825	0.651;0.518;0.319;0.651	T	0.56353	-0.7993	10	0.09590	T	0.72	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	879;879;879;879	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	F	879	ENSP00000349685:C879F;ENSP00000351346:C879F;ENSP00000379318:C879F	ENSP00000349685:C879F	C	+	2	0	VPS13B	100355722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.418000	0.80167	2.826000	0.97356	0.563000	0.77884	TGT	VPS13B	-	NULL	ENSG00000132549		0.448	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	139	0	G	NM_184042		100286546	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	24.40	127	41	SNP	1.000	T	T	100286546	G	T	100286546	3	4	31	1	0	0	0	0	1	0	0	0	17239	1377	48	3	2825	3	VPS13B	8	100286546	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	22390296	100286546	46077476	111	7466											
SNTB1	6641	genome.wustl.edu	37	chr8	121644774	121644774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacctcagcaatcactcgGgtcagcaggtcattaacgtt	10	10	9	12	2	4	1	4	1	0	0	5	1	4	1	1	2	3	3	1	2	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:121644774G>T	ENST00000395601.3	-	4	1320	c.906C>A	c.(904-906)acC>acA	p.T302T	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Silent_p.T302T	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	302					muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CAATCACTCGGGTCAGCAGGT	0.537																																																	0													109	92	98					8																	121644774		2203	4300	6503	SO:0001819	synonymous_variant	0			AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"Pleckstrin homology (PH) domain containing"	11168	protein-coding gene	gene with protein product	"tax interaction protein 43"	600026	"syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.906C>A	8.37:g.121644774G>T			A8K9E0|O14912|Q4KMG8	Silent	SNP	pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.T302	ENST00000395601.3	37	c.906	CCDS6334.1	8																																																																																			SNTB1	-	NULL	ENSG00000172164		0.537	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB1	HGNC	protein_coding	OTTHUMT00000381535.1	-	0	38	0	G	NM_021021		121644774	-1	tier1	-	no_errors	ENST00000395601	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.575	T	T	121644774	G	T	121644774	2	4	31	1	0	0	0	0	0	0	0	1	14917	1219	43	3		3	SNTB1	8	121644774	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	21358228	121644774	24719248	112	7467											
MTSS1	9788	genome.wustl.edu	37	chr8	125575201	125575201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgggagccgctggacCgggagtcactgctgttgaca	7	7	17	10	3	1	1	1	1	0	0	1	5	1	4	2	3	2	3	2	3	0	1	rs551211348		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr8:125575201C>T	ENST00000518547.1	-	10	1330	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	MTSS1_ENST00000395508.2_Missense_Mutation_p.R20Q|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.R176Q|MTSS1_ENST00000354184.4_Missense_Mutation_p.R86Q|MTSS1_ENST00000378017.3_Missense_Mutation_p.R286Q|MTSS1_ENST00000431961.2_Missense_Mutation_p.R86Q|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000325064.5_Missense_Mutation_p.R290Q	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	286	Ser-rich.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCGCTGGACCGGGAGTCACT	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		18421	0		0	False		,,,				2504	0				Esophageal Squamous(160;622 1893 3862 8546 12509)												0													45	39	41					8																	125575201		2203	4299	6502	SO:0001583	missense	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.857G>A	8.37:g.125575201C>T	ENSP00000429064:p.Arg286Gln		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.R286Q	ENST00000518547.1	37	c.857	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265808	0.80358	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090;ENST00000522118	T;T;T;T;T;T;T;T	0.45668	1.49;1.48;1.49;1.42;1.48;1.49;1.47;0.89	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	L	0.56769	1.78	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;0.991;0.992;0.997;1.0	D;D;P;P;P;D	0.83275	0.994;0.994;0.464;0.644;0.683;0.996	T	0.50215	-0.8854	10	0.17369	T	0.5	-20.2161	19.9823	0.97331	0.0:1.0:0.0:0.0	.	176;20;286;286;286;86	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2	.;.;.;MTSS1_HUMAN;.;.	Q	286;286;86;20;290;86;176;86	ENSP00000367256:R286Q;ENSP00000429064:R286Q;ENSP00000346119:R86Q;ENSP00000378884:R20Q;ENSP00000322804:R290Q;ENSP00000393606:R86Q;ENSP00000428319:R176Q;ENSP00000428145:R86Q	ENSP00000322804:R290Q	R	-	2	0	MTSS1	125644382	0.997000	0.39634	0.461000	0.27105	0.583000	0.36354	4.956000	0.63645	2.788000	0.95919	0.650000	0.86243	CGG	MTSS1	-	NULL	ENSG00000170873		0.622	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3		0	30	0	C	NM_014751		125575201	-1			no_errors	ENST00000518547	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.998	T	T	125575201	C	T	125575201	3	4	31	1	0	0	0	0	1	0	0	0	10000	652	23	1	1430	1	MTSS1	8	125575201	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	3930427	125575201	20788821	113	7468											
BNC2	54796	genome.wustl.edu	37	chr9	16436780	16436780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcaaccttcaatggtgCatcgatgtttgatcttcagg	8	15	10	8	1	3	1	2	1	1	0	4	2	3	1	1	2	3	4	1	2	2	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr9:16436780C>A	ENST00000380672.4	-	6	1469	c.1412G>T	c.(1411-1413)tGc>tTc	p.C471F	BNC2_ENST00000545497.1_Missense_Mutation_p.C376F|BNC2_ENST00000380666.2_Missense_Mutation_p.C471F|BNC2_ENST00000380667.2_Missense_Mutation_p.C404F	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCAATGGTGCATCGATGTTT	0.438																																																	0													142	133	136					9																	16436780		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1412G>T	9.37:g.16436780C>A	ENSP00000370047:p.Cys471Phe			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C471F	ENST00000380672.4	37	c.1412	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228416	0.58777	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.995;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.996;0.996;1.0;0.994;0.979;0.997;0.994;0.997	T	0.78430	-0.2207	10	0.87932	D	0	-12.7889	20.6439	0.99570	0.0:1.0:0.0:0.0	.	376;404;471;297;471;428;471;376;236	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	F	471;428;404;376;297;471;471	ENSP00000370047:C471F;ENSP00000408370:C428F;ENSP00000370042:C404F;ENSP00000444640:C376F;ENSP00000370041:C471F	ENSP00000370041:C471F	C	-	2	0	BNC2	16426780	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TGC	BNC2	-	smart_Znf_C2H2-like	ENSG00000173068		0.438	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0	109	0	C	NM_017637		16436780	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	10.99	81	10	SNP	1.000	A	A	16436780	C	A	16436780	3	1	31	1	0	0	0	0	1	0	0	0	1477	710	25	3	1895	3	BNC2	9	16436780	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		16436780	124776651	114	7469											
CIZ1	25792	genome.wustl.edu	37	chr9	130928602	130928602	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggaggtgaacagggcTgtcaaagcgttccgggcgtt	7	8	16	10	4	1	1	1	1	0	0	2	2	2	2	2	4	2	4	2	4	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr9:130928602T>G	ENST00000393608.1	-	17	2773	c.2571A>C	c.(2569-2571)acA>acC	p.T857T	CIZ1_ENST00000277465.4_Silent_p.T829T|CIZ1_ENST00000372954.1_Silent_p.T777T|CIZ1_ENST00000538431.1_Silent_p.T883T|CIZ1_ENST00000325721.8_Silent_p.T828T|CIZ1_ENST00000372938.5_Silent_p.T857T|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000541172.1_Silent_p.T756T|CIZ1_ENST00000357558.5_Silent_p.T829T|CIZ1_ENST00000372948.3_Silent_p.T801T	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	857					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGAACAGGGCTGTCAAAGCGT	0.647																																																	0													42	44	43					9																	130928602		2186	4277	6463	SO:0001819	synonymous_variant	0			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2571A>C	9.37:g.130928602T>G			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.T883	ENST00000393608.1	37	c.2649	CCDS6894.1	9																																																																																			CIZ1	-	NULL	ENSG00000148337		0.647	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	-	0	153	0	T	NM_012127		130928602	-1	tier1	-	no_errors	ENST00000538431	ensembl	human	known	74_37	silent	33.33	64	32	SNP	0.956	G	G	130928602	T	G	130928602	2	3	31	1	0	0	0	0	0	0	0	1	3448	1567	55	4		4	CIZ1	9	130928602	Silent	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	114491822	130928602	10284829	115	7470											
FAM73B	84895	genome.wustl.edu	37	chr9	131812166	131812166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactaagcgtgggccagcGgggggacagcggcagcaccc	8	2	18	13	3	0	0	0	0	0	0	0	1	0	1	2	6	4	3	2	6	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr9:131812166G>A	ENST00000358369.4	+	6	825	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	FAM73B_ENST00000406926.2_Missense_Mutation_p.R200Q|FAM73B_ENST00000277475.5_Missense_Mutation_p.R200Q	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	200					bone development (GO:0060348)	integral component of membrane (GO:0016021)		p.R200L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GTGGGCCAGCGGGGGGACAGC	0.637																																																	1	Substitution - Missense(1)	lung(1)											61	60	61					9																	131812166		2203	4300	6503	SO:0001583	missense	0			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 54"	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.599G>A	9.37:g.131812166G>A	ENSP00000351138:p.Arg200Gln		Q8NBM3|Q8TEJ6|Q969E6	Missense_Mutation	SNP	pfam_DUF2217	p.R200Q	ENST00000358369.4	37	c.599	CCDS6917.1	9	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027270	0.54683	.	.	ENSG00000148343	ENST00000358369;ENST00000406926;ENST00000277475	T;T;T	0.24908	1.83;1.83;1.83	5.25	4.35	0.52113	.	0.101474	0.64402	D	0.000009	T	0.30696	0.0773	M	0.73217	2.22	0.43803	D	0.996351	B;B	0.31655	0.334;0.118	B;B	0.32090	0.048;0.14	T	0.14643	-1.0465	10	0.72032	D	0.01	-10.6034	12.8299	0.57740	0.0791:0.0:0.9209:0.0	.	264;200	B4DZP8;Q7L4E1	.;FA73B_HUMAN	Q	200	ENSP00000351138:R200Q;ENSP00000384662:R200Q;ENSP00000277475:R200Q	ENSP00000277475:R200Q	R	+	2	0	FAM73B	130851987	0.766000	0.28496	0.764000	0.31436	0.012000	0.07955	2.894000	0.48640	1.207000	0.43291	0.313000	0.20887	CGG	FAM73B	-	pfam_DUF2217	ENSG00000148343		0.637	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7		0	22	0	G	NM_032809		131812166	1			no_errors	ENST00000358369	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.981	A	A	131812166	G	A	131812166	3	1	31	1	0	0	0	0	1	0	0	0	5640	1116	39	1	617	1	FAM73B	9	131812166	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	883564	131812166	9401265	116	7471											
COL5A1	1289	genome.wustl.edu	37	chr9	137642670	137642670	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcggcgatgcgggctccaAaggccccatggtctcagccc	6	6	14	15	3	1	0	1	0	1	0	3	1	2	0	4	5	2	1	4	5	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr9:137642670A>G	ENST00000371817.3	+	13	2018	c.1604A>G	c.(1603-1605)aAa>aGa	p.K535R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	535	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCGGGCTCCAAAGGCCCCATG	0.627																																																	0													36	37	37					9																	137642670		2202	4300	6502	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1604A>G	9.37:g.137642670A>G	ENSP00000360882:p.Lys535Arg		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.K535R	ENST00000371817.3	37	c.1604	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	A	20.0	3.929692	0.73327	.	.	ENSG00000130635	ENST00000371817	D	0.90955	-2.76	4.54	4.54	0.55810	.	0.059417	0.64402	N	0.000004	D	0.95105	0.8414	M	0.84511	2.7	0.53005	D	0.999964	D	0.63880	0.993	D	0.70935	0.971	D	0.95418	0.8504	10	0.59425	D	0.04	.	13.1516	0.59492	1.0:0.0:0.0:0.0	.	535	P20908	CO5A1_HUMAN	R	535	ENSP00000360882:K535R	ENSP00000360882:K535R	K	+	2	0	COL5A1	136782491	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.072000	0.89496	1.804000	0.52760	0.460000	0.39030	AAA	COL5A1	-	NULL	ENSG00000130635		0.627	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2		0	105	0	A	NM_000093		137642670	1			no_errors	ENST00000371817	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	G	G	137642670	A	G	137642670	3	3	31	1	0	0	0	0	1	0	0	0	3703	14	1	4	1654	4	COL5A1	9	137642670	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	5830504	137642670	3570761	117	7472											
LARP4B	23185	genome.wustl.edu	37	chr10	871242	871242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcgcatgccgcagatgaGatttactaggattcctgtaa	12	11	10	8	2	0	2	0	1	0	2	2	5	1	3	2	1	2	3	2	1	4	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:871242G>A	ENST00000316157.3	-	12	1287	c.1247C>T	c.(1246-1248)tCt>tTt	p.S416F		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	416					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCGCAGATGAGATTTACTAGG	0.368																																																	0													82	88	86					10																	871242		2203	4300	6503	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1247C>T	10.37:g.871242G>A	ENSP00000326128:p.Ser416Phe		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.S416F	ENST00000316157.3	37	c.1247	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146414	0.77888	.	.	ENSG00000107929	ENST00000316157	T	0.32515	1.45	5.57	4.66	0.58398	.	0.154616	0.64402	D	0.000011	T	0.40171	0.1106	L	0.32530	0.975	0.50813	D	0.999896	D	0.69078	0.997	P	0.57679	0.825	T	0.33624	-0.9861	10	0.66056	D	0.02	-1.4761	15.8429	0.78864	0.0:0.0:0.8631:0.1369	.	416	Q92615	LAR4B_HUMAN	F	416	ENSP00000326128:S416F	ENSP00000326128:S416F	S	-	2	0	LARP4B	861242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.361000	0.73070	1.356000	0.45884	0.655000	0.94253	TCT	LARP4B	-	NULL	ENSG00000107929		0.368	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	-	0	84	0	G	NM_015155		871242	-1	tier1	-	no_errors	ENST00000316157	ensembl	human	known	74_37	missense	24.59	46	15	SNP	1.000	A	A	871242	G	A	871242	3	1	31	1	0	0	0	0	1	0	0	0	8659	942	33	3	993	3	LARP4B	10	871242	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		871242	134663505	118	7473											
PITRM1	10531	genome.wustl.edu	37	chr10	3208496	3208496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgcacggatatttctGagacccacaaaggacggtat	11	10	10	10	2	2	1	0	1	2	1	3	4	2	3	1	3	1	2	1	3	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:3208496G>T	ENST00000224949.4	-	4	377	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.Q115K|PITRM1_ENST00000451104.2_Missense_Mutation_p.Q83K			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	115					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGATATTTCTGAGACCCACAA	0.493																																																	0													163	165	164					10																	3208496		1984	4161	6145	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.343C>A	10.37:g.3208496G>T	ENSP00000224949:p.Gln115Lys		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.Q115K	ENST00000224949.4	37	c.343	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	g	2.196	-0.384211	0.04966	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.23754	1.89;1.89;1.89	5.55	0.922	0.19408	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.601162	0.19063	N	0.123703	T	0.09113	0.0225	N	0.01761	-0.735	0.09310	N	0.999998	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.12156	0.001;0.007;0.001;0.002;0.002;0.004	T	0.34104	-0.9842	10	0.23302	T	0.38	.	10.9398	0.47266	0.0:0.1186:0.5138:0.3676	.	108;83;115;115;115;108	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	K	115;108;115;83	ENSP00000224949:Q115K;ENSP00000370377:Q115K;ENSP00000401201:Q83K	ENSP00000224949:Q115K	Q	-	1	0	PITRM1	3198496	0.980000	0.34600	0.897000	0.35233	0.051000	0.14879	1.615000	0.36922	0.655000	0.30866	0.456000	0.33151	CAG	PITRM1	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.493	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0	72	0	G			3208496	-1	tier1	-	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.176	T	T	3208496	G	T	3208496	3	4	31	1	0	0	0	0	1	0	0	0	11992	1299	45	3	2866	3	PITRM1	10	3208496	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	2337254	3208496	132326251	119	7474											
KLF6	1316	genome.wustl.edu	37	chr10	3824010	3824010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcgagggcagctcccCgggcacgcaaccccacagtt	7	4	12	18	3	0	0	0	0	0	0	1	1	1	0	5	3	2	5	5	3	1	1	rs201647969	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:3824010C>G	ENST00000497571.1	-	2	759	c.499G>C	c.(499-501)Ggg>Cgg	p.G167R	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.G167R|KLF6_ENST00000469435.1_Missense_Mutation_p.G167R	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	167					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGCAGCTCCCCGGGCACGCAA	0.632											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65	64	64					10																	3824010		2203	4300	6503	SO:0001583	missense	0			U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	2235	protein-coding gene	gene with protein product	"GC-rich binding factor"	602053	"core promoter element binding protein"	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.499G>C	10.37:g.3824010C>G	ENSP00000419923:p.Gly167Arg	614	B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G167R	ENST00000497571.1	37	c.499	CCDS7060.1	10	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385836	0.42308	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.53423	3.75;0.62;0.84	4.99	4.99	0.66335	.	0.166626	0.53938	D	0.000044	T	0.56093	0.1962	L	0.46157	1.445	0.33605	D	0.602839	P;D;D;P	0.61697	0.834;0.99;0.988;0.933	B;P;P;P	0.61328	0.273;0.887;0.706;0.447	T	0.67321	-0.5700	10	0.51188	T	0.08	.	10.8444	0.46735	0.0:0.9139:0.0:0.0861	.	167;167;167;167	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	R	167	ENSP00000419923:G167R;ENSP00000445301:G167R;ENSP00000419079:G167R	ENSP00000419079:G167R	G	-	1	0	KLF6	3814010	0.044000	0.20184	0.360000	0.25837	0.255000	0.26057	0.568000	0.23623	2.309000	0.77851	0.561000	0.74099	GGG	KLF6	-	NULL	ENSG00000067082		0.632	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF6	HGNC	protein_coding	OTTHUMT00000046495.1		0	47	0	C			3824010	-1			no_errors	ENST00000497571	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.593	G	G	3824010	C	G	3824010	3	3	31	1	0	0	0	0	1	0	0	0	8377	652	23	5	364	5	KLF6	10	3824010	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	615514	3824010	131710737	120	7475											
ITGB1	3688	genome.wustl.edu	37	chr10	33214829	33214829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacttgcatgatggcatcGaaaccaccttctggagaatc	12	9	9	11	1	1	2	0	1	1	1	3	4	1	2	2	2	3	3	2	2	3	2	rs12261912	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:33214829G>A	ENST00000396033.2	-	6	891	c.756C>T	c.(754-756)ttC>ttT	p.F252F	ITGB1_ENST00000423113.1_Silent_p.F252F|ITGB1_ENST00000302278.3_Silent_p.F252F|ITGB1_ENST00000374956.4_Silent_p.F252F|ITGB1_ENST00000484088.1_5'Flank	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	252	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGATGGCATCGAAACCACCTT	0.363													g|||	2	0.000399361	0	0	5008	,	,		18811	0		0	False		,,,				2504	0.002																0								G	,,	0,4406		0,0,2203	111	103	106		756,756,756	3.4	1	10	dbSNP_120	106	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ITGB1	NM_002211.3,NM_033668.2,NM_133376.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	252/799,252/802,252/799	33214829	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.756C>T	10.37:g.33214829G>A			A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.F252	ENST00000396033.2	37	c.756	CCDS7174.1	10																																																																																			ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000150093		0.363	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	-	0	80	0	G	NM_002211		33214829	-1	tier1	rs12261912	no_errors	ENST00000374956	ensembl	human	known	74_37	silent	20.47	101	26	SNP	1.000	A	A	33214829	G	A	33214829	2	1	31	1	0	0	0	0	0	0	0	1	7917	1049	37	1		1	ITGB1	10	33214829	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	29390819	33214829	102319918	121	7476											
ZNF33A	7581	genome.wustl.edu	37	chr10	38345270	38345270	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcggaacttgctcaacatCagagatcacatacaggggaa	16	7	9	9	1	3	1	3	0	0	1	4	4	3	3	0	3	4	1	0	3	5	2	rs267602486		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:38345270C>T	ENST00000458705.2	+	5	2373	c.2215C>T	c.(2215-2217)Cag>Tag	p.Q739*	ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.Q746*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.Q739*|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.Q740*			Q06730	ZN33A_HUMAN	zinc finger protein 33A	739					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q739*(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGCTCAACATCAGAGATCACA	0.388																																																	1	Substitution - Nonsense(1)	skin(1)											105	100	102					10																	38345270		2203	4300	6503	SO:0001587	stop_gained	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.2215C>T	10.37:g.38345270C>T	ENSP00000387713:p.Gln739*		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q746*	ENST00000458705.2	37	c.2236	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	C	16.11	3.028792	0.54790	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	.	.	.	1.92	1.92	0.25849	.	0.000000	0.32343	N	0.006233	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	9.4078	0.38473	0.0:1.0:0.0:0.0	.	.	.	.	X	740;746;739;739	.	ENSP00000304268:Q739X	Q	+	1	0	ZNF33A	38385276	0.000000	0.05858	0.993000	0.49108	0.337000	0.28794	0.276000	0.18716	1.044000	0.40200	0.313000	0.20887	CAG	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189180		0.388	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	-	0	104	0	C	NM_006974		38345270	1	tier1	-	no_errors	ENST00000432900	ensembl	human	known	74_37	nonsense	15.32	105	19	SNP	0.852	T	T	38345270	C	T	38345270	4	4	31	1	0	0	0	0	0	1	0	0	17902	827	29	3	2232	3	ZNF33A	10	38345270	Nonsense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	5130441	38345270	97189477	122	7477											
PIK3AP1	118788	genome.wustl.edu	37	chr10	98469469	98469469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctgaccacgcggtgCggaggatggaaagctctctg	9	6	15	11	3	1	1	0	1	1	0	2	4	1	4	2	4	4	2	2	4	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:98469469C>T	ENST00000339364.5	-	2	404	c.285G>A	c.(283-285)ccG>ccA	p.P95P		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	95	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CCACGCGGTGCGGAGGATGGA	0.637																																																	0													60	60	60					10																	98469469		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.285G>A	10.37:g.98469469C>T			Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	superfamily_Ankyrin_rpt-contain_dom	p.P95	ENST00000339364.5	37	c.285	CCDS31259.1	10																																																																																			PIK3AP1	-	NULL	ENSG00000155629		0.637	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	-	0	50	0	C	NM_152309		98469469	-1	tier1	-	no_errors	ENST00000339364	ensembl	human	known	74_37	silent	19.23	42	10	SNP	0.001	T	T	98469469	C	T	98469469	2	4	31	1	0	0	0	0	0	0	0	1	11947	755	27	1		1	PIK3AP1	10	98469469	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	60124199	98469469	37065278	123	7478											
ATRNL1	26033	genome.wustl.edu	37	chr10	117309029	117309029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatcaaacaaacttgttggGcttctcgacggagagaggta	13	9	12	7	2	2	2	1	0	1	2	3	5	2	3	0	3	2	3	0	3	3	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:117309029G>A	ENST00000355044.3	+	26	3904	c.3778G>A	c.(3778-3780)Gct>Act	p.A1260T	ATRNL1_ENST00000423111.2_Missense_Mutation_p.A311T|ATRNL1_ENST00000303745.7_Missense_Mutation_p.A53T	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1260					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AACTTGTTGGGCTTCTCGACG	0.333																																																	0													130	124	126					10																	117309029		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3778G>A	10.37:g.117309029G>A	ENSP00000347152:p.Ala1260Thr		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A1260T	ENST00000355044.3	37	c.3778	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316580	0.81469	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.51574	0.7;0.7;0.7	5.74	5.74	0.90152	.	0.108849	0.64402	D	0.000009	T	0.59582	0.2204	L	0.40543	1.245	0.48236	D	0.999616	D;P	0.89917	1.0;0.734	D;B	0.80764	0.994;0.257	T	0.49485	-0.8935	10	0.20046	T	0.44	-14.0876	17.7147	0.88332	0.0:0.0:1.0:0.0	.	311;1260	B4DH41;Q5VV63	.;ATRN1_HUMAN	T	1260;311;53	ENSP00000347152:A1260T;ENSP00000409624:A311T;ENSP00000307660:A53T	ENSP00000307660:A53T	A	+	1	0	ATRNL1	117299019	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.863000	0.92288	2.723000	0.93209	0.591000	0.81541	GCT	ATRNL1	-	NULL	ENSG00000107518		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	74	0	G	XM_049349		117309029	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	18.87	43	10	SNP	1.000	A	A	117309029	G	A	117309029	3	1	31	1	0	0	0	0	1	0	0	0	1208	1203	42	3	3880	3	ATRNL1	10	117309029	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	18839560	117309029	18225718	124	7479											
TACC2	10579	genome.wustl.edu	37	chr10	123844509	123844509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctgagaagcatctccagCcatcccaggcacaaccagag	12	6	8	15	0	2	2	0	1	2	2	4	3	3	2	4	1	3	2	4	1	2	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:123844509C>T	ENST00000369005.1	+	4	2834	c.2494C>T	c.(2494-2496)Cca>Tca	p.P832S	TACC2_ENST00000515273.1_Missense_Mutation_p.P832S|TACC2_ENST00000334433.3_Missense_Mutation_p.P832S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.P832S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P832S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	832					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCATCTCCAGCCATCCCAGGC	0.552																																																	0													128	129	129					10																	123844509		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2494C>T	10.37:g.123844509C>T	ENSP00000358001:p.Pro832Ser		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.P832S	ENST00000369005.1	37	c.2494	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281176	0.23392	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02916	4.14;4.11;4.11;4.14;4.11	5.66	-3.15	0.05233	.	0.462317	0.16270	N	0.221817	T	0.01489	0.0048	N	0.17082	0.46	0.09310	N	1	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.09377	0.004;0.004;0.004	T	0.41963	-0.9479	10	0.42905	T	0.14	-0.5177	1.8151	0.03099	0.3403:0.2999:0.2221:0.1377	.	832;832;832	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	S	832;832;832;832;832;822	ENSP00000358001:P832S;ENSP00000424467:P832S;ENSP00000427618:P832S;ENSP00000334280:P832S;ENSP00000395048:P832S	ENSP00000334280:P832S	P	+	1	0	TACC2	123834499	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.059000	0.01393	-0.542000	0.06249	-0.283000	0.09986	CCA	TACC2	-	NULL	ENSG00000138162		0.552	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	-	0	64	0	C			123844509	1	tier1	-	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	123844509	C	T	123844509	3	4	31	1	0	0	0	0	1	0	0	0	15549	739	26	3	2504	3	TACC2	10	123844509	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	6535480	123844509	11690238	125	7480											
BTBD16	118663	genome.wustl.edu	37	chr10	124096128	124096128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccctggttgacggcaaGtggcaggagttcaggacaaa	11	6	16	8	1	1	1	1	1	0	0	1	4	1	3	1	6	0	4	1	6	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:124096128G>T	ENST00000260723.4	+	15	1634	c.1383G>T	c.(1381-1383)aaG>aaT	p.K461N	BTBD16_ENST00000368994.2_Missense_Mutation_p.K462N|BTBD16_ENST00000495370.2_3'UTR	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	461										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTGACGGCAAGTGGCAGGAGT	0.527																																																	0													133	98	110					10																	124096128		2203	4300	6503	SO:0001583	missense	0			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1383G>T	10.37:g.124096128G>T	ENSP00000260723:p.Lys461Asn		A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	superfamily_BTB/POZ_fold	p.K462N	ENST00000260723.4	37	c.1386	CCDS31301.1	10	.	.	.	.	.	.	.	.	.	.	G	8.240	0.806709	0.16467	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.18174	2.23;2.23	5.64	2.54	0.30619	.	0.692450	0.13646	N	0.372646	T	0.08268	0.0206	N	0.12746	0.255	0.20926	N	0.999825	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.23048	-1.0199	10	0.37606	T	0.19	-8.7582	3.9971	0.09563	0.1943:0.0:0.6047:0.201	.	462;461	Q32M84-2;Q32M84	.;BTBDG_HUMAN	N	461;462	ENSP00000260723:K461N;ENSP00000357990:K462N	ENSP00000260723:K461N	K	+	3	2	BTBD16	124086118	0.845000	0.29573	0.878000	0.34440	0.555000	0.35460	0.373000	0.20484	1.393000	0.46605	0.655000	0.94253	AAG	BTBD16	-	NULL	ENSG00000138152		0.527	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3		0	55	0	G	NM_144587		124096128	1			no_errors	ENST00000368994	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.510	T	T	124096128	G	T	124096128	3	4	31	1	0	0	0	0	1	0	0	0	1545	1020	36	3	1437	3	BTBD16	10	124096128	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	251619	124096128	11438619	126	7481											
BNIP3	664	genome.wustl.edu	37	chr10	133784260	133784260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcctcatgctgagggtggCcgtgcgcttcgggtgtttaa	4	13	15	9	3	1	1	1	1	0	0	3	1	2	1	2	3	2	4	2	3	1	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr10:133784260C>T	ENST00000368636.4	-	5	545	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	BNIP3_ENST00000540159.1_Missense_Mutation_p.A141T	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	141					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTGAGGGTGGCCGTGCGCTTC	0.522																																																	0													76	70	72					10																	133784260		2203	4300	6503	SO:0001583	missense	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.421G>A	10.37:g.133784260C>T	ENSP00000357625:p.Ala141Thr		O14620|Q96GP0	Missense_Mutation	SNP	pfam_BNIP3	p.A141T	ENST00000368636.4	37	c.421	CCDS7663.1	10	.	.	.	.	.	.	.	.	.	.	C	0.403	-0.917257	0.02415	.	.	ENSG00000176171	ENST00000368636;ENST00000540159	.	.	.	4.45	2.46	0.29980	.	0.275088	0.41712	D	0.000827	T	0.23014	0.0556	N	0.16656	0.425	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.16837	-1.0389	9	0.21014	T	0.42	-3.8997	8.6823	0.34216	0.2657:0.4475:0.2869:0.0	.	141	Q12983	BNIP3_HUMAN	T	141	.	ENSP00000357625:A141T	A	-	1	0	BNIP3	133634250	0.020000	0.18652	0.018000	0.16275	0.301000	0.27625	0.169000	0.16641	0.510000	0.28216	0.655000	0.94253	GCC	BNIP3	-	pfam_BNIP3	ENSG00000176171		0.522	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	-	0	108	0	C			133784260	-1	tier1	-	no_errors	ENST00000368636	ensembl	human	known	74_37	missense	28.87	69	28	SNP	0.064	T	T	133784260	C	T	133784260	3	4	31	1	0	0	0	0	1	0	0	0	1480	739	26	3	171	3	BNIP3	10	133784260	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	9688132	133784260	1750487	127	7482											
HSD17B12	51144	genome.wustl.edu	37	chr11	43859885	43859885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatccaaaggggctattctGaacatttcatctggcagtgg	11	11	11	8	0	3	2	1	1	2	1	4	2	4	2	1	4	1	2	1	4	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:43859885G>A	ENST00000278353.4	+	8	674	c.555G>A	c.(553-555)ctG>ctA	p.L185L	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	185					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						GGGCTATTCTGAACATTTCAT	0.363																																					Ovarian(58;548 1143 13948 16572 34258)												0													145	135	138					11																	43859885		2203	4300	6503	SO:0001819	synonymous_variant	0			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.555G>A	11.37:g.43859885G>A			A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L185	ENST00000278353.4	37	c.555	CCDS7905.1	11																																																																																			HSD17B12	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000149084		0.363	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	HGNC	protein_coding	OTTHUMT00000389594.1	-	0	78	0	G			43859885	1	tier1	-	no_errors	ENST00000278353	ensembl	human	known	74_37	silent	25.40	47	16	SNP	1.000	A	A	43859885	G	A	43859885	2	1	31	1	0	0	0	0	0	0	0	1	7408	1277	45	3		3	HSD17B12	11	43859885	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		43859885	91146631	128	7483											
OR4C11	219429	genome.wustl.edu	37	chr11	55371598	55371598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttataattttcttttcagaGagagcatccacaattaatct	13	16	5	7	0	3	2	1	0	2	2	4	3	4	2	1	0	1	2	1	0	4	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:55371598G>A	ENST00000302231.4	-	1	276	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCTTTTCAGAGAGAGCATCCA	0.398																																																	0													84	78	80					11																	55371598		2176	4012	6188	SO:0001819	synonymous_variant	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"GPCR / Class A : Olfactory receptors"	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.252C>T	11.37:g.55371598G>A			B9EIL4|Q8NGL8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L84	ENST00000302231.4	37	c.252	CCDS31503.1	11																																																																																			OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172188		0.398	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	-	0	57	0	G	NM_001004700		55371598	-1	tier1	-	no_errors	ENST00000302231	ensembl	human	known	74_37	silent	76.92	15	50	SNP	0.000	A	A	55371598	G	A	55371598	2	1	31	1	0	0	0	0	0	0	0	1	11084	929	33	3		3	OR4C11	11	55371598	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	11511713	55371598	79634918	129	7484											
OR4D10	390197	genome.wustl.edu	37	chr11	59245409	59245409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcccactccctttctgCggacccaatgttcttgacac	6	13	6	16	1	2	1	0	1	2	0	4	2	4	2	3	1	2	2	3	1	1	4	rs375485138		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:59245409C>T	ENST00000530162.1	+	1	564	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCTTTCTGCGGACCCAATG	0.498																																																	0								T		2,4400	821.3+/-416.4	0,2,2199	111	111	111		507	4.7	1	11		111	0,8590		0,0,4295	no	coding-synonymous	OR4D10	NM_001004705.1		0,2,6494	TT,TC,CC		0.0,0.0454,0.0154		169/312	59245409	2,12990	2201	4295	6496	SO:0001819	synonymous_variant	0			AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"GPCR / Class A : Olfactory receptors"	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.507C>T	11.37:g.59245409C>T			B2RNH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C169	ENST00000530162.1	37	c.507	CCDS53636.1	11																																																																																			OR4D10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000254466		0.498	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D10	HGNC	protein_coding	OTTHUMT00000394235.1	-	0	77	0	C	NM_001004705		59245409	1	tier1	-	no_errors	ENST00000530162	ensembl	human	known	74_37	silent	50.00	42	42	SNP	0.996	T	T	59245409	C	T	59245409	2	4	31	1	0	0	0	0	0	0	0	1	11093	776	27	1		1	OR4D10	11	59245409	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	3873811	59245409	75761107	130	7485											
INCENP	3619	genome.wustl.edu	37	chr11	61897831	61897831	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccagattctccatggCgggagcgggtgctggctccc	4	10	13	14	2	1	1	0	0	1	1	4	2	3	2	4	4	2	2	4	4	0	2	rs571110517		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:61897831C>A	ENST00000394818.3	+	4	1034	c.832C>A	c.(832-834)Cgg>Agg	p.R278R	INCENP_ENST00000278849.4_Silent_p.R278R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	278					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTCTCCATGGCGGGAGCGGGT	0.677																																																	0													59	62	61					11																	61897831		2202	4299	6501	SO:0001819	synonymous_variant	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.832C>A	11.37:g.61897831C>A			A8MQD2|Q5Y192	Silent	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R278	ENST00000394818.3	37	c.832	CCDS44624.1	11																																																																																			INCENP	-	NULL	ENSG00000149503		0.677	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2	-	0	89	0	C	NM_020238		61897831	1	tier1	-	no_errors	ENST00000394818	ensembl	human	known	74_37	silent	28.92	59	24	SNP	0.064	A	A	61897831	C	A	61897831	2	1	31	1	0	0	0	0	0	0	0	1	7760	759	27	2		2	INCENP	11	61897831	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	2652422	61897831	73108685	131	7486											
SLC22A20	823	genome.wustl.edu	37	chr11	64981506	64981506	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccactgccggggccctGccaaccacactgaggcctcc	7	4	9	21	1	0	1	0	1	0	0	1	1	1	1	8	3	3	0	8	3	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:64981506G>A	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGGGGCCCTGCCAACCACAC	0.706																																																	0													9	14	12					11																	64981506		1920	4106	6026	SO:0001628	intergenic_variant	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981506G>A			Q2TTR0|Q6DHV4	RNA	SNP	-	NULL	ENST00000527323.1	37	NULL	CCDS44644.1	11																																																																																			SLC22A20	-	-	ENSG00000197847		0.706	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A20	HGNC	protein_coding	OTTHUMT00000385325.1		0	106	0	G			64981506	1			no_errors	ENST00000525264	ensembl	human	known	74_37	rna	5.21	90	5	SNP	0.002	A	A	64981506	G	A	64981506	1	1	31	0	1	0	0	0	0	0	0	0	14496	1319	46	3		3	SLC22A20	11	64981506	IGR	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	3083675	64981506	70025010	132	7487											
GPR152	390212	genome.wustl.edu	37	chr11	67219230	67219230	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgggcgtgaagctgccCggccgctcctcgcagagagc	6	6	15	14	4	1	2	1	1	0	1	3	3	2	2	3	2	3	3	3	2	1	0	rs367572061		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:67219230C>T	ENST00000312457.2	-	1	970	c.966G>A	c.(964-966)ccG>ccA	p.P322P	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGAAGCTGCCCGGCCGCTCCT	0.662																																					Pancreas(102;800 1581 2723 7382 33622)												0								C		0,4400		0,0,2200	42	42	42		966	-8.6	0	11		42	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	GPR152	NM_206997.1		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		322/471	67219230	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	0			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"GPCR / Class A : Orphans"	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.966G>A	11.37:g.67219230C>T			Q0VD88|Q86SM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P322	ENST00000312457.2	37	c.966	CCDS8165.1	11																																																																																			GPR152	-	NULL	ENSG00000175514		0.662	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	HGNC	protein_coding	OTTHUMT00000397623.1	-	0	82	0	C			67219230	-1	tier1	-	no_errors	ENST00000312457	ensembl	human	known	74_37	silent	24.19	47	15	SNP	0.000	T	T	67219230	C	T	67219230	2	4	31	1	0	0	0	0	0	0	0	1	6684	639	23	1		1	GPR152	11	67219230	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	2237724	67219230	67787286	133	7488											
GSTP1	2950	genome.wustl.edu	37	chr11	67353972	67353972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatgtggggcgcctcagtgCccggcccaagctcaaggcct	7	7	13	14	2	2	0	2	0	0	0	2	0	2	0	4	4	2	1	4	4	3	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:67353972C>T	ENST00000398606.3	+	7	806	c.557C>T	c.(556-558)gCc>gTc	p.A186V	GSTP1_ENST00000398603.1_Missense_Mutation_p.A150V|GSTP1_ENST00000498765.1_3'UTR	NM_000852.3	NP_000843.1	P09211	GSTP1_HUMAN	glutathione S-transferase pi 1	186	GST C-terminal.			A -> P (in Ref. 2; CAA30894). {ECO:0000305}.	cellular response to lipopolysaccharide (GO:0071222)|central nervous system development (GO:0007417)|common myeloid progenitor cell proliferation (GO:0035726)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biosynthetic process (GO:0009890)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of leukocyte proliferation (GO:0070664)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|nitric oxide storage (GO:0035732)|positive regulation of superoxide anion generation (GO:0032930)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of stress-activated MAPK cascade (GO:0032872)|response to reactive oxygen species (GO:0000302)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|TRAF2-GSTP1 complex (GO:0097057)|vesicle (GO:0031982)	dinitrosyl-iron complex binding (GO:0035731)|glutathione transferase activity (GO:0004364)|JUN kinase binding (GO:0008432)|kinase regulator activity (GO:0019207)|nitric oxide binding (GO:0070026)|S-nitrosoglutathione binding (GO:0035730)			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Busulfan(DB01008)|Carboplatin(DB00958)|Chlorambucil(DB00291)|Cisplatin(DB00515)|Clomipramine(DB01242)|Etoposide(DB00773)|Glutathione(DB00143)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	CGCCTCAGTGCCCGGCCCAAG	0.622																																																	0													39	42	41					11																	67353972		2021	4165	6186	SO:0001583	missense	0			U12472	CCDS41679.1	11q13.2	2014-09-17	2008-07-18		ENSG00000084207	ENSG00000084207	2.5.1.18	"Glutathione S-transferases / Soluble"	4638	protein-coding gene	gene with protein product		134660		FAEES3, GST3		1885604, 7587384, 19915149	Standard	NM_000852		Approved	GSTP	uc001omf.3	P09211	OTTHUMG00000137430	ENST00000398606.3:c.557C>T	11.37:g.67353972C>T	ENSP00000381607:p.Ala186Val		O00460|Q15690|Q5TZY3	Missense_Mutation	SNP	pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_pi	p.A186V	ENST00000398606.3	37	c.557	CCDS41679.1	11	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489574	0.64074	.	.	ENSG00000084207	ENST00000398606;ENST00000398603	T;T	0.02656	4.21;4.21	5.3	5.3	0.74995	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.147640	0.43579	D	0.000543	T	0.08447	0.0210	M	0.87758	2.905	0.38960	D	0.958531	B	0.32188	0.359	B	0.34180	0.177	T	0.02004	-1.1231	9	0.56958	D	0.05	-32.0327	14.4484	0.67367	0.0:1.0:0.0:0.0	.	186	P09211	GSTP1_HUMAN	V	186;150	ENSP00000381607:A186V;ENSP00000381604:A150V	ENSP00000381604:A150V	A	+	2	0	GSTP1	67110548	1.000000	0.71417	0.245000	0.24217	0.238000	0.25445	3.594000	0.54008	2.463000	0.83235	0.563000	0.77884	GCC	GSTP1	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000084207		0.622	GSTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTP1	HGNC	protein_coding	OTTHUMT00000268504.1		0	72	0	C	NM_000852		67353972	1			no_errors	ENST00000398606	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.923	T	T	67353972	C	T	67353972	3	4	31	1	0	0	0	0	1	0	0	0	6871	739	26	3	583	3	GSTP1	11	67353972	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	134742	67353972	67652544	134	7489											
CCDC81	60494	genome.wustl.edu	37	chr11	86120398	86120398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccacaagaatgagaaaccGgaattttatgtaagtctttt	16	12	7	6	1	1	2	0	1	1	2	1	4	1	3	2	1	2	1	2	1	7	5	rs553491893		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:86120398G>A	ENST00000445632.2	+	10	1481	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	CCDC81_ENST00000354755.1_Silent_p.P313P|CCDC81_ENST00000528728.1_Silent_p.P138P|CCDC81_ENST00000278487.3_Silent_p.P138P	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	403										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATGAGAAACCGGAATTTTATG	0.388													G|||	1	0.000199681	0	0	5008	,	,		13195	0.001		0	False		,,,				2504	0																0													45	51	48					11																	86120398		2202	4298	6500	SO:0001819	synonymous_variant	0			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.1209G>A	11.37:g.86120398G>A			A0AVL7|Q53FW3|Q9H5E5	Silent	SNP	superfamily_IHF-like_DNA-bd_dom	p.P403	ENST00000445632.2	37	c.1209	CCDS53691.1	11																																																																																			CCDC81	-	NULL	ENSG00000149201		0.388	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	-	0	253	0	G	NM_021827		86120398	1	tier1	-	no_errors	ENST00000445632	ensembl	human	known	74_37	silent	20.92	154	41	SNP	0.128	A	A	86120398	G	A	86120398	2	1	31	1	0	0	0	0	0	0	0	1	2862	1103	39	1		1	CCDC81	11	86120398	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	18766426	86120398	48886118	135	7490											
CADM1	23705	genome.wustl.edu	37	chr11	115080346	115080346	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggtggtggtggtggtTgttgtgggaggagggatagt	4	13	24	0	0	0	0	0	0	0	0	0	3	0	3	0	9	0	2	0	9	1	3	rs148111993	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:115080346T>G	ENST00000452722.3	-	8	1046	c.1026A>C	c.(1024-1026)acA>acC	p.T342T	CADM1_ENST00000537058.1_Silent_p.T342T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T342T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggttgttgtggGAG	0.433													T|||	7	0.00139776	0.0038	0	5008	,	,		10841	0		0.002	False		,,,				2504	0																0													46	51	49					11																	115080346		2201	4296	6497	SO:0001819	synonymous_variant	0			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5951	protein-coding gene	gene with protein product	"nectin-like 2"	605686	"tumor suppressor in lung cancer 1", "immunoglobulin superfamily, member 4"	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1026A>C	11.37:g.115080346T>G				Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.T342	ENST00000452722.3	37	c.1026	CCDS8373.1	11																																																																																			CADM1	-	NULL	ENSG00000182985		0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	-	0	112	0	T	NM_014333		115080346	-1	tier1	rs148111993	no_errors	ENST00000452722	ensembl	human	known	74_37	silent	12.90	81	12	SNP	1.000	G	G	115080346	T	G	115080346	2	3	31	1	0	0	0	0	0	0	0	1	2573	1799	63	4		4	CADM1	11	115080346	Silent	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	28959948	115080346	19926170	136	7491											
ROBO4	54538	genome.wustl.edu	37	chr11	124761271	124761271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagtcccctgcggctgcaGaggctgtctgagctggaaca	8	7	15	11	1	1	3	0	1	1	2	2	5	2	4	2	3	4	4	2	3	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:124761271G>A	ENST00000306534.3	-	12	2357	c.1872C>T	c.(1870-1872)ctC>ctT	p.L624L	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Silent_p.L479L	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	624					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGCGGCTGCAGAGGCTGTCTG	0.637																																																	0													30	33	32					11																	124761271		2201	4299	6500	SO:0001819	synonymous_variant	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1872C>T	11.37:g.124761271G>A			A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L624	ENST00000306534.3	37	c.1872	CCDS8455.1	11																																																																																			ROBO4	-	NULL	ENSG00000154133		0.637	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	-	0	99	0	G	NM_019055		124761271	-1	tier1	-	no_errors	ENST00000306534	ensembl	human	known	74_37	silent	49.41	43	42	SNP	1.000	A	A	124761271	G	A	124761271	2	1	31	1	0	0	0	0	0	0	0	1	13561	929	33	3		3	ROBO4	11	124761271	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	9680925	124761271	10245245	137	7492											
CCDC15	80071	genome.wustl.edu	37	chr11	124875054	124875054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttttcatggatattgagaGagaacaagttaaagaacaac	18	10	8	5	0	1	3	1	1	0	3	1	6	1	4	0	1	3	1	0	1	7	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:124875054G>C	ENST00000344762.5	+	13	2616	c.2357G>C	c.(2356-2358)aGa>aCa	p.R786T	CCDC15_ENST00000529051.1_Missense_Mutation_p.R786T	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	786						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		gatattGAGAGAGAACAAGTT	0.338																																																	0													46	39	41					11																	124875054		1824	4075	5899	SO:0001583	missense	0			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2357G>C	11.37:g.124875054G>C	ENSP00000341684:p.Arg786Thr		Q9H8U7	Missense_Mutation	SNP	NULL	p.R786T	ENST00000344762.5	37	c.2357	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205899	0.79127	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.72505	-0.49;-0.66	5.42	5.42	0.78866	.	0.000000	0.42172	D	0.000744	D	0.83353	0.5236	M	0.67397	2.05	0.32256	N	0.570742	D	0.89917	1.0	D	0.91635	0.999	D	0.85541	0.1215	10	0.62326	D	0.03	-7.0178	18.3628	0.90380	0.0:0.0:1.0:0.0	.	786	Q0P6D6	CCD15_HUMAN	T	786	ENSP00000435403:R786T;ENSP00000341684:R786T	ENSP00000341684:R786T	R	+	2	0	CCDC15	124380264	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.656000	0.67988	2.689000	0.91719	0.655000	0.94253	AGA	CCDC15	-	NULL	ENSG00000149548		0.338	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1	-	0	122	0	G	NM_025004		124875054	1	tier1	-	no_errors	ENST00000344762	ensembl	human	known	74_37	missense	20.51	93	24	SNP	1.000	C	C	124875054	G	C	124875054	3	2	31	1	0	0	0	0	1	0	0	0	2791	942	33	5	2403	5	CCDC15	11	124875054	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	113783	124875054	10131462	138	7493											
SRPR	6734	genome.wustl.edu	37	chr11	126137496	126137499	+	Frame_Shift_Del	DEL	TTAA	TTAA	-																															aaaagtgccatttaataaacTtaaagcactttgctgttgga																										TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	TTAA	TTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:126137496_126137499delTTAA	ENST00000332118.6	-	3	464_467	c.310_313delTTAA	c.(310-315)ttaagtfs	p.LS104fs	SRPR_ENST00000530680.1_5'UTR|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|SRPR_ENST00000532259.1_Frame_Shift_Del_p.LS76fs|FOXRED1_ENST00000442061.2_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	104					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTTAATAAACTTAAAGCACTTTGC	0.412																																																	0																																										SO:0001589	frameshift_variant	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"signal recognition particle receptor ('docking protein')"			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.310_313delTTAA	11.37:g.126137496_126137499delTTAA	ENSP00000328023:p.Leu104fs		A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Del	DEL	pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom	p.L104fs	ENST00000332118.6	37	c.313_310	CCDS31717.1	11																																																																																			SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N,superfamily_Longin-like_dom	ENSG00000182934		0.412	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2		0	60	0	TTAA	NM_003139		126137499	-1	tier1		no_errors	ENST00000332118	ensembl	human	known	74_37	frame_shift_del	26.19	31	11	DEL	0.997:0.975:0.976:0.759	-	-	126137499	TTAA	-	126137496	7	5	31	1	0	1	0	1	0	0	0	0	15209	1609	56	0	1651	0	SRPR	11	126137496	Frame_Shift_Del	DEL	TTAA	TCGA-IG-A8O2-01A-11D-A36J-09	1262442	126137496	8869020	139	7494											
ST14	6768	genome.wustl.edu	37	chr11	130068269	130068269	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcttctgggtctgcgAcagtgtgaacgactgcggag	6	9	14	12	3	3	1	0	1	3	0	3	4	3	2	2	2	3	0	2	2	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:130068269A>T	ENST00000278742.5	+	13	1944	c.1526A>T	c.(1525-1527)gAc>gTc	p.D509V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	509	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGGGTCTGCGACAGTGTGAAC	0.667																																																	0													88	88	88					11																	130068269		2201	4297	6498	SO:0001583	missense	0			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1526A>T	11.37:g.130068269A>T	ENSP00000278742:p.Asp509Val		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.D509V	ENST00000278742.5	37	c.1526	CCDS8487.1	11	.	.	.	.	.	.	.	.	.	.	A	16.54	3.151323	0.57151	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	D	0.98747	-5.11	5.0	5.0	0.66597	.	0.000000	0.40064	N	0.001183	D	0.99390	0.9785	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98657	1.0682	10	0.54805	T	0.06	.	14.3782	0.66892	1.0:0.0:0.0:0.0	.	509	Q9Y5Y6	ST14_HUMAN	V	509;411	ENSP00000278742:D509V	ENSP00000278742:D509V	D	+	2	0	ST14	129573479	1.000000	0.71417	0.254000	0.24359	0.192000	0.23643	8.718000	0.91430	1.862000	0.54008	0.379000	0.24179	GAC	ST14	-	pirsf_Peptidase_S1A_matripase,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000149418		0.667	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	-	0	91	0	A			130068269	1	tier1	-	no_errors	ENST00000278742	ensembl	human	known	74_37	missense	47.54	32	29	SNP	0.998	T	T	130068269	A	T	130068269	3	4	31	1	0	0	0	0	1	0	0	0	15258	275	10	5	1576	5	ST14	11	130068269	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	3930773	130068269	4938247	140	7495											
NCAPD3	23310	genome.wustl.edu	37	chr11	134037925	134037925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgagcttcctgcatgActacatttgccaaggccatg	8	13	8	12	0	2	2	0	2	2	0	3	2	3	2	3	1	4	2	3	1	2	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr11:134037925A>G	ENST00000534548.2	-	27	3603	c.3539T>C	c.(3538-3540)gTc>gCc	p.V1180A		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1180					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCCTGCATGACTACATTTGC	0.468																																																	0													256	214	229					11																	134037925		2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3539T>C	11.37:g.134037925A>G	ENSP00000433681:p.Val1180Ala		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.V1180A	ENST00000534548.2	37	c.3539	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	A	14.29	2.489950	0.44249	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.56941	0.43;0.43;0.43	5.52	4.39	0.52855	Armadillo-type fold (1);	0.052484	0.85682	N	0.000000	T	0.33933	0.0880	L	0.31578	0.945	0.80722	D	1	B;B	0.33904	0.431;0.045	B;B	0.25987	0.065;0.012	T	0.08166	-1.0735	10	0.11182	T	0.66	-22.8916	11.364	0.49660	0.9287:0.0:0.0713:0.0	.	1180;240	P42695;Q96FA6	CNDD3_HUMAN;.	A	1180;85;216	ENSP00000433681:V1180A;ENSP00000432532:V85A;ENSP00000435173:V216A	ENSP00000432532:V85A	V	-	2	0	NCAPD3	133543135	1.000000	0.71417	0.986000	0.45419	0.933000	0.57130	6.989000	0.76219	0.940000	0.37473	0.477000	0.44152	GTC	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0	38	0	A	NM_015261		134037925	-1			no_errors	ENST00000534548	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	G	G	134037925	A	G	134037925	3	3	31	1	0	0	0	0	1	0	0	0	10245	275	10	4	993	4	NCAPD3	11	134037925	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	3969656	134037925	968591	141	7496											
CACNA2D4	93589	genome.wustl.edu	37	chr12	1963175	1963175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggggctgtcaccaccgCgtcaaacagcacctcccgga	9	5	11	16	3	2	0	2	0	0	0	3	1	3	1	4	3	2	2	4	3	1	0	rs368331985		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:1963175C>T	ENST00000382722.5	-	23	2550	c.2188G>A	c.(2188-2190)Gcg>Acg	p.A730T	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A666T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A666T|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A591T|CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A730T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A705T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	730					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCACCACCGCGTCAAACAGC	0.617																																					Colon(2;101 179 21030 23310 28141)												0								C	THR/ALA	0,4250		0,0,2125	49	58	55		2188	5.4	0.2	12		55	1,8467		0,1,4233	no	missense	CACNA2D4	NM_172364.4	58	0,1,6358	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	730/1138	1963175	1,12717	2125	4234	6359	SO:0001583	missense	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2188G>A	12.37:g.1963175C>T	ENSP00000372169:p.Ala730Thr		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A730T	ENST00000382722.5	37	c.2188	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.658215	0.96734	0.0	1.18E-4	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.35789	1.29	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.90542	3.125	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.64321	0.924;0.802	T	0.72792	-0.4186	10	0.54805	T	0.06	.	17.9462	0.89039	0.0:1.0:0.0:0.0	.	730;730	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	T	666;730;730	ENSP00000372169:A730T	ENSP00000280663:A730T	A	-	1	0	CACNA2D4	1833436	1.000000	0.71417	0.158000	0.22627	0.966000	0.64601	5.738000	0.68613	2.542000	0.85734	0.655000	0.94253	GCG	CACNA2D4	-	NULL	ENSG00000151062		0.617	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0	60	0	C			1963175	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	missense	45.71	38	32	SNP	1.000	T	T	1963175	C	T	1963175	3	4	31	1	0	0	0	0	1	0	0	0	2558	768	27	1	1289	1	CACNA2D4	12	1963175	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		1963175	131888720	142	7497											
KLRF1	51348	genome.wustl.edu	37	chr12	9994939	9994939	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttttatacagaaaaaccTaagacaattaaactacgtat	18	11	5	7	1	0	2	0	0	0	2	0	2	0	2	1	1	4	2	1	1	10	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:9994939T>G	ENST00000279544.3	+	5	561	c.497T>G	c.(496-498)cTa>cGa	p.L166R	KLRF1_ENST00000324214.4_Missense_Mutation_p.L116R|KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	166	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						CAGAAAAACCTAAGACAATTA	0.338																																																	0													123	116	118					12																	9994939		1837	4086	5923	SO:0001583	missense	0			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"Killer cell lectin-like receptors", "C-type lectin domain containing"	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.497T>G	12.37:g.9994939T>G	ENSP00000279544:p.Leu166Arg		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L166R	ENST00000279544.3	37	c.497	CCDS41750.1	12	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.046671	0.00398	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.21191	2.02;2.02	3.09	3.09	0.35607	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.327393	0.17222	N	0.182288	T	0.40839	0.1133	M	0.71036	2.16	0.25463	N	0.987897	B;D	0.76494	0.139;0.999	B;D	0.83275	0.06;0.996	T	0.06716	-1.0811	9	.	.	.	.	7.9772	0.30161	0.0:0.0:0.0:1.0	.	166;116	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	R	116;166	ENSP00000322487:L116R;ENSP00000279544:L166R	.	L	+	2	0	KLRF1	9886206	0.000000	0.05858	0.081000	0.20488	0.021000	0.10359	0.265000	0.18515	1.675000	0.50919	0.454000	0.30748	CTA	KLRF1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000150045		0.338	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRF1	HGNC	protein_coding	OTTHUMT00000399535.1	-	0	78	0	T	NM_016523		9994939	1	tier1	-	no_errors	ENST00000279544	ensembl	human	known	74_37	missense	24.69	61	20	SNP	0.139	G	G	9994939	T	G	9994939	3	3	31	1	0	0	0	0	1	0	0	0	8447	1522	53	4	515	4	KLRF1	12	9994939	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	8031764	9994939	123856956	143	7498											
PDE3A	5139	genome.wustl.edu	37	chr12	20774228	20774228	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtctttctggtgcttttAgtcctgattcttggaataat	6	20	8	7	0	4	1	0	1	4	0	5	2	5	2	1	2	1	1	1	2	3	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:20774228A>C	ENST00000359062.3	+	5	1464		c.e5-1		PDE3A_ENST00000544307.1_Splice_Site	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGGTGCTTTTAGTCCTGATTC	0.368																																																	0													84	76	78					12																	20774228		2203	4299	6502	SO:0001630	splice_region_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1425-1A>C	12.37:g.20774228A>C			O60865|Q13348|Q17RD1	Splice_Site	SNP	-	e5-2	ENST00000359062.3	37	c.1425-2	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739568	0.30774	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.42	0.0699	0.14376	.	.	.	.	.	.	.	.	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.3693	0.04326	0.5297:0.1368:0.0714:0.2621	.	.	.	.	.	-1	.	.	.	+	.	.	PDE3A	20665495	0.001000	0.12720	0.016000	0.15963	0.904000	0.53231	0.420000	0.21263	-0.224000	0.09928	0.482000	0.46254	.	PDE3A	-	-	ENSG00000172572		0.368	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	-	0	56	0	A		Intron	20774228	1	tier1	-	no_errors	ENST00000359062	ensembl	human	known	74_37	splice_site	21.79	61	17	SNP	0.001	C	C	20774228	A	C	20774228	5	2	31	1	0	0	0	0	0	0	1	0	11676	434	15	4	1441	4	PDE3A	12	20774228	Splice_Site	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	10779289	20774228	113077667	144	7499											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20874792	20874792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtaggagcctggtggcttgGctatctaatagcaggaatca	10	10	14	7	0	2	0	1	0	1	0	2	2	2	2	1	6	2	4	1	6	5	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:20874792G>C	ENST00000266509.2	+	8	1198	c.830G>C	c.(829-831)gGc>gCc	p.G277A	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G159A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G228A|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G277A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G277A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	277					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TGGTGGCTTGGCTATCTAATA	0.428																																																	0													77	76	77					12																	20874792		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.830G>C	12.37:g.20874792G>C	ENSP00000266509:p.Gly277Ala		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G277A	ENST00000266509.2	37	c.830	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509396	0.85282	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	4.63	4.63	0.57726	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.97110	1.0;0.996;0.998;0.998	D	0.84403	0.0561	10	0.87932	D	0	.	18.0443	0.89327	0.0:0.0:1.0:0.0	.	159;228;277;277	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	A	277;228;277;277;159	ENSP00000444149:G277A;ENSP00000438665:G228A;ENSP00000266509:G277A;ENSP00000370964:G277A;ENSP00000444527:G159A	ENSP00000266509:G277A	G	+	2	0	SLCO1C1	20766059	1.000000	0.71417	0.971000	0.41717	0.970000	0.65996	9.169000	0.94788	2.555000	0.86185	0.467000	0.42956	GGC	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.428	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	76	0	G	NM_017435		20874792	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	18.18	54	12	SNP	1.000	C	C	20874792	G	C	20874792	3	2	31	1	0	0	0	0	1	0	0	0	14770	1203	42	5	856	5	SLCO1C1	12	20874792	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	100564	20874792	112977103	145	7500											
LRRK2	120892	genome.wustl.edu	37	chr12	40753118	40753118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtcagtactccattGatgtgtttgagtgaatccac	11	13	10	7	0	1	3	1	3	0	0	3	4	3	4	2	1	1	2	2	1	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:40753118G>T	ENST00000298910.7	+	47	6958	c.6900G>T	c.(6898-6900)ttG>ttT	p.L2300F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2300					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTACTCCATTGATGTGTTTGA	0.358																																																	0													96	94	94					12																	40753118		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6900G>T	12.37:g.40753118G>T	ENSP00000298910:p.Leu2300Phe		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.L2300F	ENST00000298910.7	37	c.6900	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767064	0.31320	.	.	ENSG00000188906	ENST00000298910	T	0.39787	1.06	5.92	1.36	0.22044	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.202112	0.43416	D	0.000561	T	0.35941	0.0949	L	0.60455	1.87	0.34349	D	0.689694	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.40608	-0.9554	10	0.46703	T	0.11	.	9.117	0.36764	0.0636:0.3756:0.4652:0.0956	.	2300;2300	Q17RV3;Q5S007	.;LRRK2_HUMAN	F	2300	ENSP00000298910:L2300F	ENSP00000298910:L2300F	L	+	3	2	LRRK2	39039385	0.997000	0.39634	0.919000	0.36401	0.856000	0.48823	0.268000	0.18571	0.360000	0.24265	-0.283000	0.09986	TTG	LRRK2	-	superfamily_WD40_repeat_dom	ENSG00000188906		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	98	0	G	XM_058513		40753118	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	12.82	101	15	SNP	0.757	T	T	40753118	G	T	40753118	3	4	31	1	0	0	0	0	1	0	0	0	9068	1281	45	3	7086	3	LRRK2	12	40753118	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	19878326	40753118	93098777	146	7501											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46318804	46318804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcggttgcatcatatttaTaggtagctgagaaccatcaa	12	13	9	7	1	2	1	2	1	0	1	2	2	2	1	1	2	4	4	1	2	6	7	rs150376258		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:46318804T>C	ENST00000369367.3	-	12	3846	c.3613A>G	c.(3613-3615)Ata>Gta	p.I1205V	SCAF11_ENST00000419565.2_Missense_Mutation_p.I1205V|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.I890V|SCAF11_ENST00000549162.1_Missense_Mutation_p.I1013V	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1205					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATCATATTTATAGGTAGCTGA	0.368																																																	0								T	VAL/ILE	0,4406		0,0,2203	145	138	140		3613	-3.6	0.1	12	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCAF11	NM_004719.2	29	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	1205/1464	46318804	1,13005	2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3613A>G	12.37:g.46318804T>C	ENSP00000358374:p.Ile1205Val		A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.I1205V	ENST00000369367.3	37	c.3613	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	T	7.851	0.723971	0.15439	0.0	1.16E-4	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.01	-3.62	0.04543	.	0.618598	0.15980	N	0.235321	T	0.19485	0.0468	N	0.21448	0.665	0.21445	N	0.999689	B	0.09022	0.002	B	0.04013	0.001	T	0.37337	-0.9710	10	0.02654	T	1	-0.6999	9.4266	0.38583	0.0:0.4868:0.116:0.3972	.	1205	Q99590	SCAFB_HUMAN	V	890;1205;1013;1205	ENSP00000449812:I890V;ENSP00000358374:I1205V;ENSP00000448864:I1013V;ENSP00000413036:I1205V	ENSP00000358374:I1205V	I	-	1	0	SCAF11	44605071	0.923000	0.31300	0.105000	0.21289	0.987000	0.75469	-0.166000	0.09954	-0.876000	0.04017	0.383000	0.25322	ATA	SCAF11	-	NULL	ENSG00000139218		0.368	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	-	0	138	0	T	NM_004719		46318804	-1	tier1	rs150376258	no_errors	ENST00000369367	ensembl	human	known	74_37	missense	18.67	122	28	SNP	0.840	C	C	46318804	T	C	46318804	3	2	31	1	0	0	0	0	1	0	0	0	14222	1406	49	4	794	4	SFRS2IP	12	46318804	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	5565686	46318804	87533091	147	7502											
SLC48A1	55652	genome.wustl.edu	37	chr12	48173962	48173962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagctactacctctccagCgtctggagcttcatttcctt	7	13	6	15	1	3	0	1	0	2	0	5	1	4	1	4	1	5	2	4	1	2	5	rs200530736	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:48173962C>T	ENST00000442218.2	+	3	436	c.339C>T	c.(337-339)agC>agT	p.S113S	SLC48A1_ENST00000442892.2_Silent_p.S56S|SLC48A1_ENST00000547002.1_Silent_p.S56S	NM_017842.2	NP_060312.2	Q6P1K1	HRG1_HUMAN	solute carrier family 48 (heme transporter), member 1	113					heme transport (GO:0015886)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	heme transporter activity (GO:0015232)			large_intestine(1)|lung(3)|urinary_tract(1)	5						ACCTCTCCAGCGTCTGGAGCT	0.597													C|||	2	0.000399361	0.0015	0	5008	,	,		19309	0		0	False		,,,				2504	0																0													22	25	24					12																	48173962		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS8755.2	12q13.11	2013-05-22			ENSG00000211584	ENSG00000211584		"Solute carriers"	26035	protein-coding gene	gene with protein product		612187				18418376	Standard	NM_017842		Approved	FLJ20489, hHRG-1, HRG1	uc001rqd.3	Q6P1K1	OTTHUMG00000156983	ENST00000442218.2:c.339C>T	12.37:g.48173962C>T			Q9BUB3|Q9NX17	Silent	SNP	NULL	p.S113	ENST00000442218.2	37	c.339	CCDS8755.2	12																																																																																			SLC48A1	-	NULL	ENSG00000211584		0.597	SLC48A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC48A1	HGNC	protein_coding	OTTHUMT00000346966.1		0	62	0	C	NM_017842		48173962	1			no_errors	ENST00000442218	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.761	T	T	48173962	C	T	48173962	2	4	31	1	0	0	0	0	0	0	0	1	14694	767	27	1		1	SLC48A1	12	48173962	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1855158	48173962	85677933	148	7503											
SPATS2	65244	genome.wustl.edu	37	chr12	49919998	49919998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaggggctcccccagcGcaaacccaggacctctcaga	13	3	9	16	1	1	1	1	0	1	1	3	2	2	2	4	3	2	2	4	3	3	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:49919998G>A	ENST00000553127.1	+	15	2111	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	SPATS2_ENST00000552918.1_Missense_Mutation_p.R533H|SPATS2_ENST00000321898.6_Missense_Mutation_p.R533H			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	533						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.R533H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTCCCCCAGCGCAAACCCAGG	0.522																																																	1	Substitution - Missense(1)	breast(1)											48	49	49					12																	49919998		2203	4300	6503	SO:0001583	missense	0			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.1598G>A	12.37:g.49919998G>A	ENSP00000448228:p.Arg533His		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.R533H	ENST00000553127.1	37	c.1598	CCDS31794.1	12	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749215	0.89753	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.56088	0.791	T	0.61681	-0.7013	9	0.49607	T	0.09	-1.7478	15.5728	0.76354	0.0:0.0:1.0:0.0	.	533	Q86XZ4	SPAS2_HUMAN	H	533	.	ENSP00000326841:R533H	R	+	2	0	SPATS2	48206265	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.785000	0.68998	2.635000	0.89317	0.585000	0.79938	CGC	SPATS2	-	NULL	ENSG00000123352		0.522	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2	HGNC	protein_coding	OTTHUMT00000404023.1		0	71	0	G	NM_023071		49919998	1			no_errors	ENST00000321898	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	A	A	49919998	G	A	49919998	3	1	31	1	0	0	0	0	1	0	0	0	15066	1087	38	1	1644	1	SPATS2	12	49919998	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	1746036	49919998	83931897	149	7504											
KRR1	11103	genome.wustl.edu	37	chr12	75897754	75897754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttttctttggttccttgCgtttattcacatttttgtgt	3	26	6	6	1	2	0	1	0	1	0	3	0	3	0	1	1	1	2	1	1	1	11			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:75897754C>A	ENST00000229214.4	-	7	784	c.761G>T	c.(760-762)cGc>cTc	p.R254L	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	254	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGGTTCCTTGCGTTTATTCAC	0.353																																																	0													215	199	204					12																	75897754		2203	4300	6503	SO:0001583	missense	0			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.761G>T	12.37:g.75897754C>A	ENSP00000229214:p.Arg254Leu		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.R254L	ENST00000229214.4	37	c.761	CCDS9012.1	12	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247699	0.80024	.	.	ENSG00000111615	ENST00000229214	T	0.30448	1.53	5.86	4.97	0.65823	.	0.098444	0.64402	D	0.000001	T	0.49321	0.1550	M	0.91196	3.185	0.80722	D	1	P	0.38711	0.643	B	0.41764	0.366	T	0.61277	-0.7095	10	0.87932	D	0	-11.0911	14.9098	0.70746	0.0:0.9314:0.0:0.0686	.	254	Q13601	KRR1_HUMAN	L	254	ENSP00000229214:R254L	ENSP00000229214:R254L	R	-	2	0	KRR1	74184021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.125000	0.77193	1.483000	0.48342	0.585000	0.79938	CGC	KRR1	-	NULL	ENSG00000111615		0.353	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRR1	HGNC	protein_coding	OTTHUMT00000405727.1	-	0	120	0	C	NM_007043		75897754	-1	tier1	-	no_errors	ENST00000229214	ensembl	human	known	74_37	missense	34.23	73	38	SNP	1.000	A	A	75897754	C	A	75897754	3	1	31	1	0	0	0	0	1	0	0	0	8473	768	27	2	400	2	KRR1	12	75897754	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	25977756	75897754	57954141	150	7505											
MYO1H	283446	genome.wustl.edu	37	chr12	109831212	109831212	+	Frame_Shift_Del	DEL	T	T	-																															cactgtgagccagatggaacTttatcaaggggtcaatttct																										TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr12:109831212delT	ENST00000431443.2	+	2	203	c.203delT	c.(202-204)cttfs	p.L68fs	MYO1H_ENST00000310903.5_Frame_Shift_Del_p.L68fs	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	68	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAGATGGAACTTTATCAAGGG	0.448																																																	0													100	97	98					12																	109831212		1923	4135	6058	SO:0001589	frameshift_variant	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"Myosins / Myosin superfamily : Class I"	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.203delT	12.37:g.109831212delT	ENSP00000444076:p.Leu68fs		F5H3C6	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.Y69fs	ENST00000431443.2	37	c.203		12																																																																																			MYO1H	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000174527		0.448	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding			0	83	0	T	NM_173597		109831212	1			no_errors	ENST00000431443	ensembl	human	known	74_37	frame_shift_del	7.92	93	8	DEL	1.000	0	-	109831212	T	-	109831212	7	5	31	1	0	1	0	1	0	0	0	0	10113	1609	56	0	209	0	MYO1H	12	109831212	Frame_Shift_Del	DEL	T	TCGA-IG-A8O2-01A-11D-A36J-09	33933458	109831212	24020683	151	7506											
POMP	51371	genome.wustl.edu	37	chr13	29242660	29242660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacactgagaaacattcaGggtctatttgctccgctaaa	12	11	7	11	1	2	1	1	1	1	1	4	2	4	1	2	1	2	2	2	1	4	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr13:29242660G>A	ENST00000380842.4	+	4	294	c.213G>A	c.(211-213)caG>caA	p.Q71Q	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	71					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		GAAACATTCAGGGTCTATTTG	0.373																																																	0													115	109	111					13																	29242660		2203	4300	6503	SO:0001819	synonymous_variant	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"proteassemblin"	613386	"chromosome 13 open reading frame 12"	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.213G>A	13.37:g.29242660G>A			A5HKJ2|D6MXU3|Q9HB69	Silent	SNP	pfam_UMP1	p.Q71	ENST00000380842.4	37	c.213	CCDS9331.1	13																																																																																			POMP	-	pfam_UMP1	ENSG00000132963		0.373	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1	-	0	68	0	G	NM_015932		29242660	1	tier1	-	no_errors	ENST00000380842	ensembl	human	known	74_37	silent	17.86	46	10	SNP	1.000	A	A	29242660	G	A	29242660	2	1	31	1	0	0	0	0	0	0	0	1	12283	991	35	3		3	POMP	13	29242660	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		29242660	85927218	152	7507											
DACH1	1602	genome.wustl.edu	37	chr13	72440792	72440792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgatggaaggagccggaGacgaagtcgccgaagaggtg	11	4	18	8	5	0	2	0	0	0	2	2	8	1	4	3	4	1	0	3	4	3	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr13:72440792G>T	ENST00000359684.2	-	1	115	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	DACH1_ENST00000354591.4_Missense_Mutation_p.S39Y|DACH1_ENST00000313174.7_Missense_Mutation_p.S39Y|DACH1_ENST00000305425.4_Missense_Mutation_p.S39Y			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	39					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGAGCCGGAGACGAAGTCGC	0.682																																																	0													20	27	25					13																	72440792		1955	4132	6087	SO:0001583	missense	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.116C>A	13.37:g.72440792G>T	ENSP00000352712:p.Ser39Tyr		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S39Y	ENST00000359684.2	37	c.116		13	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721683	0.30503	.	.	ENSG00000165659	ENST00000305425;ENST00000313174;ENST00000354591;ENST00000359684;ENST00000377826	T;T;T;T	0.42513	1.02;0.97;1.31;1.26	3.22	3.22	0.36961	.	0.838726	0.10343	U	0.686072	T	0.42944	0.1225	N	0.24115	0.695	0.35262	D	0.779671	D;D;P	0.60160	0.987;0.987;0.902	P;P;P	0.52217	0.693;0.693;0.563	T	0.57318	-0.7832	10	0.72032	D	0.01	-4.1655	14.5579	0.68115	0.0:0.0:1.0:0.0	.	39;39;39	Q9UI36-4;Q9UI36-3;Q9UI36-2	.;.;.	Y	39	ENSP00000304994:S39Y;ENSP00000318506:S39Y;ENSP00000346604:S39Y;ENSP00000352712:S39Y	ENSP00000304994:S39Y	S	-	2	0	DACH1	71338793	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	5.916000	0.69981	1.607000	0.50170	0.462000	0.41574	TCT	DACH1	-	NULL	ENSG00000165659		0.682	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1		0	79	0	G	NM_004392		72440792	-1			no_errors	ENST00000359684	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	72440792	G	T	72440792	3	4	31	1	0	0	0	0	1	0	0	0	4229	942	33	3	2054	3	DACH1	13	72440792	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	43198132	72440792	42729086	153	7508											
HS6ST3	266722	genome.wustl.edu	37	chr13	96743467	96743467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgaggccccggaaaaCggctccctgccccgattcgt	7	5	11	18	5	0	0	0	0	0	0	2	4	1	1	7	3	2	1	7	3	2	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr13:96743467C>T	ENST00000376705.2	+	1	375	c.351C>T	c.(349-351)aaC>aaT	p.N117N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	117					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CCCCGGAAAACGGCTCCCTGC	0.677																																																	0													18	19	18					13																	96743467		2191	4281	6472	SO:0001819	synonymous_variant	0			AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"Sulfotransferases, membrane-bound"	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.351C>T	13.37:g.96743467C>T			Q5W0L0|Q68CW6	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.N117	ENST00000376705.2	37	c.351	CCDS9481.1	13																																																																																			HS6ST3	-	NULL	ENSG00000185352		0.677	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST3	HGNC	protein_coding	OTTHUMT00000045517.2		0	71	0	C	NM_153456		96743467	1			no_errors	ENST00000376705	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.962	T	T	96743467	C	T	96743467	2	4	31	1	0	0	0	0	0	0	0	1	7399	535	19	1		1	HS6ST3	13	96743467	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	24302675	96743467	18426411	154	7509											
PCCA	5095	genome.wustl.edu	37	chr13	100962086	100962086	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtttgcttgtttttaGctaatcacatatggctctga	7	21	7	6	0	2	1	1	1	1	0	2	1	2	1	0	1	2	5	0	1	3	9			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr13:100962086G>T	ENST00000376285.1	+	16	1391		c.e16-1		PCCA_ENST00000376286.4_Splice_Site|PCCA_ENST00000376279.3_Splice_Site	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide						biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CTTGTTTTTAGCTAATCACAT	0.289																																																	0													83	80	81					13																	100962086		2203	4300	6503	SO:0001630	splice_region_variant	0			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1354-1G>T	13.37:g.100962086G>T			B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Splice_Site	SNP	-	e16-1	ENST00000376285.1	37	c.1354-1	CCDS9496.2	13	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181401	0.78677	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000443601;ENST00000376254	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6493	0.95794	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCCA	99760087	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.433000	0.90291	2.638000	0.89438	0.650000	0.86243	.	PCCA	-	-	ENSG00000175198		0.289	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2		0	49	0	G		Intron	100962086	1			no_errors	ENST00000376285	ensembl	human	known	74_37	splice_site	6.67	55	4	SNP	1.000	T	T	100962086	G	T	100962086	5	4	31	1	0	0	0	0	0	0	1	0	11543	985	34	3	1415	3	PCCA	13	100962086	Splice_Site	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	4218619	100962086	14207792	155	7510											
SUPT16H	11198	genome.wustl.edu	37	chr14	21825402	21825402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctacaggaatggcgtTgatcatggtcactttcttgc	9	12	12	8	1	3	2	2	1	1	1	3	3	3	3	0	4	2	2	0	4	2	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr14:21825402T>C	ENST00000216297.2	-	22	2952	c.2614A>G	c.(2614-2616)Aac>Gac	p.N872D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	872					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGAATGGCGTTGATCATGGTC	0.453																																																	0													212	157	175					14																	21825402		2203	4300	6503	SO:0001583	missense	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2614A>G	14.37:g.21825402T>C	ENSP00000216297:p.Asn872Asp		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.N872D	ENST00000216297.2	37	c.2614	CCDS9569.1	14	.	.	.	.	.	.	.	.	.	.	T	29.7	5.032528	0.93575	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.62	5.62	0.85841	Translation elongation factor EFG/EF2, C-terminal (1);Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.48260	1.515	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.62364	-0.6870	9	0.20519	T	0.43	-25.2562	14.805	0.69945	0.0:0.0:0.0:1.0	.	872	Q9Y5B9	SP16H_HUMAN	D	872	.	ENSP00000216297:N872D	N	-	1	0	SUPT16H	20895242	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.228000	0.78079	2.138000	0.66242	0.533000	0.62120	AAC	SUPT16H	-	pfam_DUF1747	ENSG00000092201		0.453	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2		0	93	0	T			21825402	-1			no_errors	ENST00000216297	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	C	C	21825402	T	C	21825402	3	2	31	1	0	0	0	0	1	0	0	0	15443	1812	63	4	549	4	SUPT16H	14	21825402	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09		21825402	85524138	156	7511											
RTN1	6252	genome.wustl.edu	37	chr14	60193766	60193766	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcaacatgggcgtctCaggctccagggctccgtctc	5	8	13	15	3	2	0	1	0	2	0	6	0	4	0	3	4	1	3	3	4	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr14:60193766C>A	ENST00000267484.5	-	3	1971	c.1636G>T	c.(1636-1638)Gag>Tag	p.E546*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	546					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATGGGCGTCTCAGGCTCCAGG	0.692																																																	0													21	25	24					14																	60193766		2203	4300	6503	SO:0001587	stop_gained	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1636G>T	14.37:g.60193766C>A	ENSP00000267484:p.Glu546*		Q16800|Q16801|Q5BKZ4|Q9BQ59	Nonsense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E546*	ENST00000267484.5	37	c.1636	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.557301	0.98358	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	.	.	.	4.89	0.304	0.15796	.	0.935084	0.09036	N	0.857985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	4.6341	0.12516	0.0:0.3971:0.3411:0.2617	.	.	.	.	X	126;546;472	.	ENSP00000267484:E546X	E	-	1	0	RTN1	59263519	0.017000	0.18338	0.010000	0.14722	0.009000	0.06853	0.806000	0.27126	0.450000	0.26774	0.563000	0.77884	GAG	RTN1	-	NULL	ENSG00000139970		0.692	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0	109	0	C			60193766	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	nonsense	36.76	43	25	SNP	0.001	A	A	60193766	C	A	60193766	4	1	31	1	0	0	0	0	0	1	0	0	13770	835	29	3	787	3	RTN1	14	60193766	Nonsense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	38368364	60193766	47155774	157	7512											
SYNE2	23224	genome.wustl.edu	37	chr14	64491122	64491122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaattagaaaaaatggagTccatatgccaggctcgagca	15	8	10	8	2	0	1	0	0	0	1	3	4	1	2	2	2	2	2	2	2	6	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr14:64491122T>C	ENST00000344113.4	+	39	5997	c.5785T>C	c.(5785-5787)Tcc>Ccc	p.S1929P	SYNE2_ENST00000358025.3_Missense_Mutation_p.S1929P|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1929P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1929					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAATGGAGTCCATATGCCA	0.433																																																	0													80	79	80					14																	64491122		1932	4140	6072	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5785T>C	14.37:g.64491122T>C	ENSP00000341781:p.Ser1929Pro		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S1929P	ENST00000344113.4	37	c.5785	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782561	0.49891	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.36157	1.27;1.27;1.27	5.14	3.97	0.46021	.	0.125344	0.36519	N	0.002556	T	0.40862	0.1134	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.69078	0.994;0.997	P;D	0.65010	0.855;0.931	T	0.10776	-1.0615	10	0.29301	T	0.29	.	9.8164	0.40856	0.0:0.0806:0.0:0.9194	.	1929;1929	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	1929	ENSP00000350719:S1929P;ENSP00000341781:S1929P;ENSP00000452570:S1929P	ENSP00000261678:S1929P	S	+	1	0	SYNE2	63560875	1.000000	0.71417	0.978000	0.43139	0.996000	0.88848	2.355000	0.44107	1.932000	0.55993	0.477000	0.44152	TCC	SYNE2	-	NULL	ENSG00000054654		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	54	0	T	NM_182914		64491122	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	34.21	25	13	SNP	0.659	C	C	64491122	T	C	64491122	3	2	31	1	0	0	0	0	1	0	0	0	15493	1667	58	4	5935	4	SYNE2	14	64491122	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	4297356	64491122	42858418	158	7513											
NRXN3	9369	genome.wustl.edu	37	chr14	79432736	79432736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatgacttcattgcagtcGagcttgtcaaggggtaagta	11	11	12	7	1	2	1	2	1	0	0	3	2	2	1	0	2	2	5	0	2	4	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr14:79432736G>A	ENST00000554719.1	+	9	2136	c.1645G>A	c.(1645-1647)Gag>Aag	p.E549K	NRXN3_ENST00000335750.5_Missense_Mutation_p.E549K	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	142					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATTGCAGTCGAGCTTGTCAA	0.428																																																	0													150	133	139					14																	79432736		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1645G>A	14.37:g.79432736G>A	ENSP00000451648:p.Glu549Lys		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.E911K	ENST00000554719.1	37	c.2731	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445986	0.84101	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.80480	-1.38;-1.38	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90283	0.6961	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.686	D	0.89136	0.3513	8	.	.	.	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	922;549	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	K	922;911;549;549	ENSP00000451648:E549K;ENSP00000338349:E549K	.	E	+	1	0	NRXN3	78502489	1.000000	0.71417	0.554000	0.28268	0.357000	0.29423	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GAG	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.428	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1		0	35	0	G	NM_001105250		79432736	1			no_errors	ENST00000554738	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	79432736	G	A	79432736	3	1	31	1	0	0	0	0	1	0	0	0	10706	1059	37	1	1671	1	NRXN3	14	79432736	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	14941614	79432736	27916804	159	7514											
YY1	7528	genome.wustl.edu	37	chr14	100728689	100728689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggttgaagaacagatcaTtggagagaactcacctcctg	13	9	11	8	0	2	4	2	1	0	3	3	6	3	5	2	2	2	1	2	2	3	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr14:100728689T>C	ENST00000262238.4	+	2	988	c.728T>C	c.(727-729)aTt>aCt	p.I243T	RP11-638I2.2_ENST00000555212.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	243					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				GAACAGATCATTGGAGAGAAC	0.368																																																	0													80	81	81					14																	100728689		2203	4300	6503	SO:0001583	missense	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.728T>C	14.37:g.100728689T>C	ENSP00000262238:p.Ile243Thr		Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.I243T	ENST00000262238.4	37	c.728	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	T	12.18	1.860785	0.32884	.	.	ENSG00000100811	ENST00000262238	T	0.10477	2.87	5.69	5.69	0.88448	.	0.138046	0.48286	U	0.000193	T	0.07458	0.0188	N	0.14661	0.345	0.44899	D	0.997919	B	0.17852	0.024	B	0.10450	0.005	T	0.34329	-0.9833	10	0.13470	T	0.59	.	16.298	0.82784	0.0:0.0:0.0:1.0	.	243	P25490	TYY1_HUMAN	T	243	ENSP00000262238:I243T	ENSP00000262238:I243T	I	+	2	0	YY1	99798442	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.997000	0.63921	2.310000	0.77875	0.449000	0.29647	ATT	YY1	-	pirsf_TF_Yin_yang	ENSG00000100811		0.368	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1		0	107	0	T	NM_003403		100728689	1			no_errors	ENST00000262238	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	C	C	100728689	T	C	100728689	3	2	31	1	0	0	0	0	1	0	0	0	17556	1493	52	4	734	4	YY1	14	100728689	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	21295953	100728689	6620851	160	7515											
MARK3	4140	genome.wustl.edu	37	chr14	103932740	103932740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgaactcaaaccatttGttgaaccagagctagacatc	16	9	7	9	0	1	5	1	2	0	3	2	5	1	5	2	0	4	2	2	0	5	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr14:103932740G>T	ENST00000429436.2	+	10	1468	c.958G>T	c.(958-960)Gtt>Ttt	p.V320F	MARK3_ENST00000416682.2_Missense_Mutation_p.V343F|MARK3_ENST00000440884.3_Missense_Mutation_p.V241F|MARK3_ENST00000553942.1_Missense_Mutation_p.V320F|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000335102.5_Missense_Mutation_p.V343F|MARK3_ENST00000303622.9_Missense_Mutation_p.V320F|MARK3_ENST00000216288.7_Missense_Mutation_p.V320F	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	320						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CAAACCATTTGTTGAACCAGA	0.363																																																	0													105	95	98					14																	103932740		1911	4129	6040	SO:0001583	missense	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.958G>T	14.37:g.103932740G>T	ENSP00000411397:p.Val320Phe		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V320F	ENST00000429436.2	37	c.958	CCDS45165.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.08|13.08	2.129156|2.129156	0.37533|0.37533	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000554627|ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	.|T;T;T;T;T;T;T	.|0.73681	.|-0.77;3.1;-0.71;-0.74;-0.73;1.8;-0.76	5.69|5.69	1.88|1.88	0.25563|0.25563	.|Protein kinase-like domain (1);	.|0.237482	.|0.44097	.|D	.|0.000499	T|T	0.62466|0.62466	0.2430|0.2430	N|N	0.20685|0.20685	0.6|0.6	0.54753|0.54753	D|D	0.999989|0.999989	.|B;B;B;B;B;B;B	.|0.31318	.|0.319;0.215;0.117;0.026;0.179;0.061;0.072	.|B;B;B;B;B;B;B	.|0.38378	.|0.272;0.121;0.049;0.061;0.047;0.076;0.049	T|T	0.59445|0.59445	-0.7453|-0.7453	5|10	.|0.72032	.|D	.|0.01	.|.	10.6392|10.6392	0.45584|0.45584	0.2357:0.0:0.7643:0.0|0.2357:0.0:0.7643:0.0	.|.	.|343;343;320;320;241;320;320	.|P27448-7;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.|.;.;.;MARK3_HUMAN;.;.;.	F|F	87|343;241;343;320;320;320;320	.|ENSP00000335347:V343F;ENSP00000402104:V241F;ENSP00000408092:V343F;ENSP00000411397:V320F;ENSP00000303698:V320F;ENSP00000216288:V320F;ENSP00000450772:V320F	.|ENSP00000216288:V320F	L|V	+|+	3|1	2|0	MARK3|MARK3	103002493|103002493	0.990000|0.990000	0.36364|0.36364	0.110000|0.110000	0.21437|0.21437	0.831000|0.831000	0.47069|0.47069	1.525000|1.525000	0.35953|0.35953	0.082000|0.082000	0.17018|0.17018	0.650000|0.650000	0.86243|0.86243	TTG|GTT	MARK3	-	superfamily_Kinase-like_dom	ENSG00000075413		0.363	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	-	0	42	0	G	NM_001128918		103932740	1	tier1	-	no_errors	ENST00000429436	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.795	T	T	103932740	G	T	103932740	3	4	31	1	0	0	0	0	1	0	0	0	9352	1377	48	3	996	3	MARK3	14	103932740	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	3204051	103932740	3416800	161	7516											
CRIP1	1396	genome.wustl.edu	37	chr14	105954503	105954503	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctgtctgtgcctctgcagCcgagagggtgacctctctgg	4	10	14	13	1	3	2	0	1	3	1	4	3	3	2	4	2	3	1	4	2	0	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr14:105954503C>T	ENST00000330233.7	+	2	984	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CRIP1_ENST00000392531.3_Splice_Site_p.A14V|C14orf80_ENST00000392527.1_5'Flank|CRIP1_ENST00000409393.2_Splice_Site_p.A14V|C14orf80_ENST00000329886.7_5'Flank|C14orf80_ENST00000334656.7_5'Flank|CRIP1_ENST00000551180.1_5'Flank			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	14	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|cellular response to antibiotic (GO:0071236)|cellular response to UV-B (GO:0071493)|heart development (GO:0007507)|immune response (GO:0006955)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|prostate gland stromal morphogenesis (GO:0060741)|regulation of gene expression (GO:0010468)|response to organic substance (GO:0010033)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)	AT DNA binding (GO:0003680)|DNA binding, bending (GO:0008301)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCCTCTGCAGCCGAGAGGGTG	0.667																																																	0													37	40	39					14																	105954503		2203	4299	6502	SO:0001630	splice_region_variant	0				CCDS10004.1	14q32.33	2004-06-18			ENSG00000213145	ENSG00000213145			2360	protein-coding gene	gene with protein product		123875				9480758	Standard	NM_001311		Approved	CRIP	uc001yri.4	P50238	OTTHUMG00000029908	ENST00000330233.7:c.41-1C>T	14.37:g.105954503C>T			H3BPI2|Q13628|Q53XY7|Q96J34	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A14V	ENST00000330233.7	37	c.41	CCDS10004.1	14	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378525	0.82682	.	.	ENSG00000213145	ENST00000330233;ENST00000409393;ENST00000392531	T;T;T	0.60920	0.15;0.15;0.15	4.76	4.76	0.60689	Zinc finger, LIM-type (5);	0.000000	0.47093	U	0.000256	T	0.61776	0.2374	.	.	.	0.80722	D	1	B	0.24186	0.099	B	0.37943	0.261	T	0.64664	-0.6354	9	0.66056	D	0.02	.	16.3441	0.83117	0.0:1.0:0.0:0.0	.	14	P50238	CRIP1_HUMAN	V	14	ENSP00000332449:A14V;ENSP00000386340:A14V;ENSP00000376315:A14V	ENSP00000447493:A14V	A	+	2	0	CRIP1	105025548	1.000000	0.71417	0.978000	0.43139	0.545000	0.35147	5.618000	0.67722	2.186000	0.69663	0.650000	0.86243	GCC	CRIP1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000213145		0.667	CRIP1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRIP1	HGNC	protein_coding	OTTHUMT00000335466.2	-	0	56	0	C	NM_001311	Missense_Mutation	105954503	1	tier1	-	no_errors	ENST00000330233	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.999	T	T	105954503	C	T	105954503	5	4	31	1	0	0	0	0	0	0	1	0	3881	753	26	3	47	3	CRIP1	14	105954503	Splice_Site	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	2021763	105954503	1395037	162	7517											
NIPA2	81614	genome.wustl.edu	37	chr15	23006588	23006588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgttgaatatatccaggGccctatttaggtaattaatc	13	14	8	6	0	0	1	0	1	0	0	2	1	1	1	2	2	0	2	2	2	8	8			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:23006588G>A	ENST00000337451.3	-	8	1328	c.716C>T	c.(715-717)gCc>gTc	p.A239V	NIPA2_ENST00000398013.3_Missense_Mutation_p.A239V|NIPA2_ENST00000359727.4_Missense_Mutation_p.A220V|NIPA2_ENST00000398014.2_Missense_Mutation_p.A239V|NIPA2_ENST00000539711.2_Missense_Mutation_p.A220V	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	239						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		TATATCCAGGGCCCTATTTAG	0.428																																																	0													113	131	125					15																	23006588		2202	4300	6502	SO:0001583	missense	0			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.716C>T	15.37:g.23006588G>A	ENSP00000337618:p.Ala239Val		F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.A239V	ENST00000337451.3	37	c.716	CCDS10010.1	15	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097967	0.76870	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.94280	-3.39;-3.39;-3.39	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.97760	0.9265	H	0.94925	3.6	0.80722	D	1	D;D	0.63880	0.993;0.986	D;D	0.70016	0.967;0.952	D	0.98463	1.0597	10	0.87932	D	0	-10.0284	19.6178	0.95640	0.0:0.0:1.0:0.0	.	220;239	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	V	239;239;220;239;220	ENSP00000337618:A239V;ENSP00000381096:A239V;ENSP00000352762:A220V	ENSP00000337618:A239V	A	-	2	0	NIPA2	20558029	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	9.731000	0.98807	2.709000	0.92574	0.655000	0.94253	GCC	NIPA2	-	pfam_Mg_trans_NIPA	ENSG00000140157		0.428	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA2	HGNC	protein_coding	OTTHUMT00000251137.1	-	0	32	0	G	NM_030922		23006588	-1	tier1	-	no_errors	ENST00000337451	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	A	A	23006588	G	A	23006588	3	1	31	1	0	0	0	0	1	0	0	0	10462	1203	42	3	370	3	NIPA2	15	23006588	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		23006588	79524804	163	7518											
GABRG3	2567	genome.wustl.edu	37	chr15	27778007	27778007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttaacctggtctactggGttggatacctgtatctctaa	8	16	8	9	0	3	0	0	0	3	0	4	1	3	1	2	3	3	2	2	3	5	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:27778007G>A	ENST00000333743.6	+	10	1638	c.1384G>A	c.(1384-1386)Gtt>Att	p.V462I	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	462					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTCTACTGGGTTGGATACCT	0.502																																					NSCLC(114;800 1656 7410 37729 45293)												0													51	51	51					15																	27778007		1944	4141	6085	SO:0001583	missense	0				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1384G>A	15.37:g.27778007G>A	ENSP00000331912:p.Val462Ile		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V462I	ENST00000333743.6	37	c.1384	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689696	0.48097	.	.	ENSG00000182256	ENST00000333743	D	0.83506	-1.73	5.57	4.55	0.56014	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.267267	0.33075	N	0.005318	T	0.63792	0.2541	N	0.04373	-0.215	0.80722	D	1	B	0.24533	0.105	B	0.25140	0.058	T	0.58352	-0.7651	10	0.09338	T	0.73	.	13.1334	0.59395	0.083:0.0:0.917:0.0	.	462	Q99928	GBRG3_HUMAN	I	462	ENSP00000331912:V462I	ENSP00000331912:V462I	V	+	1	0	GABRG3	25451602	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.350000	0.73017	1.185000	0.42971	0.650000	0.86243	GTT	GABRG3	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000182256		0.502	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	-	0	118	0	G			27778007	1	tier1	-	no_errors	ENST00000333743	ensembl	human	known	74_37	missense	12.90	134	20	SNP	1.000	A	A	27778007	G	A	27778007	3	1	31	1	0	0	0	0	1	0	0	0	6197	1261	44	3	1422	3	GABRG3	15	27778007	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	4771419	27778007	74753385	164	7519											
SEMA6D	80031	genome.wustl.edu	37	chr15	48062933	48062933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctctttgacagccctGtcaaggaataccaacagaat	13	10	8	10	0	2	2	1	1	1	1	3	3	2	3	2	2	3	0	2	2	5	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:48062933G>T	ENST00000316364.5	+	19	2612	c.2173G>T	c.(2173-2175)Gtc>Ttc	p.V725F	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V663F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V663F|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V650F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V725F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V682F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V663F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V669F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V706F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	725					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGACAGCCCTGTCAAGGAATA	0.438																																																	0													81	77	78					15																	48062933		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2173G>T	15.37:g.48062933G>T	ENSP00000324857:p.Val725Phe		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.V725F	ENST00000316364.5	37	c.2173	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506919	0.64410	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18502	2.21;2.25;2.25;2.24;2.22;2.22;2.21;2.22	5.76	5.76	0.90799	.	0.059007	0.64402	D	0.000002	T	0.37812	0.1017	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.989;0.989;1.0;0.989	P;P;D;P	0.85130	0.831;0.888;0.997;0.831	T	0.02307	-1.1179	10	0.56958	D	0.05	.	19.962	0.97255	0.0:0.0:1.0:0.0	.	650;669;725;663	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	F	663;725;725;706;682;669;663;650	ENSP00000442040:V663F;ENSP00000446152:V725F;ENSP00000324857:V725F;ENSP00000374084:V706F;ENSP00000374083:V682F;ENSP00000346786:V669F;ENSP00000350770:V663F;ENSP00000374079:V650F	ENSP00000324857:V725F	V	+	1	0	SEMA6D	45850225	1.000000	0.71417	0.899000	0.35326	0.822000	0.46500	7.637000	0.83313	2.705000	0.92388	0.655000	0.94253	GTC	SEMA6D	-	NULL	ENSG00000137872		0.438	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	21	0	G	NM_024966		48062933	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	T	T	48062933	G	T	48062933	3	4	31	1	0	0	0	0	1	0	0	0	14087	1377	48	3	2286	3	SEMA6D	15	48062933	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	20284926	48062933	54468459	165	7520											
COX5A	9377	genome.wustl.edu	37	chr15	75219207	75219207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggctctggaaccatatcaTaggtaacaagtgtgtttatc	11	13	10	7	0	2	0	1	0	1	0	3	1	2	1	1	3	2	3	1	3	6	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:75219207T>C	ENST00000322347.6	-	3	392	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	COX5A_ENST00000568783.1_Missense_Mutation_p.Y80C|COX5A_ENST00000567270.1_Missense_Mutation_p.Y41C|COX5A_ENST00000564811.1_Missense_Mutation_p.Y80C|COX5A_ENST00000562233.1_Intron|COX5A_ENST00000568517.1_5'UTR	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	80					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						AACCATATCATAGGTAACAAG	0.383																																																	0													77	74	75					15																	75219207		2197	4295	6492	SO:0001583	missense	0			M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.239A>G	15.37:g.75219207T>C	ENSP00000317780:p.Tyr80Cys		P30045|Q8TB65	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6	p.Y80C	ENST00000322347.6	37	c.239	CCDS10273.1	15	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426123	0.83667	.	.	ENSG00000178741	ENST00000322347	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81370	0.4808	M	0.87097	2.86	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.84711	0.0734	9	0.72032	D	0.01	-9.5927	14.9026	0.70692	0.0:0.0:0.0:1.0	.	80	P20674	COX5A_HUMAN	C	80	.	ENSP00000317780:Y80C	Y	-	2	0	COX5A	73006260	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.552000	0.82192	2.201000	0.70794	0.533000	0.62120	TAT	COX5A	-	pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6	ENSG00000178741		0.383	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5A	HGNC	protein_coding	OTTHUMT00000286417.1	-	0	81	0	T	NM_004255		75219207	-1	tier1	-	no_errors	ENST00000322347	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	C	C	75219207	T	C	75219207	3	2	31	1	0	0	0	0	1	0	0	0	3779	1406	49	4	221	4	COX5A	15	75219207	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	27156274	75219207	27312185	166	7521											
LINGO1	84894	genome.wustl.edu	37	chr15	77907091	77907091	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgccggttgaagttgagCcgccagcggcgccggaacac	7	6	15	13	5	0	2	0	2	0	0	0	3	0	3	4	3	5	3	4	3	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:77907091C>G	ENST00000355300.6	-	2	1332	c.1158G>C	c.(1156-1158)cgG>cgC	p.R386R	LINGO1_ENST00000561030.1_Silent_p.R380R	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	386	LRRCT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGAAGTTGAGCCGCCAGCGGC	0.627																																																	0													21	26	24					15																	77907091		2059	4189	6248	SO:0001819	synonymous_variant	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1158G>C	15.37:g.77907091C>G			D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R386	ENST00000355300.6	37	c.1158	CCDS45313.1	15																																																																																			LINGO1	-	NULL	ENSG00000169783		0.627	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	-	0	103	0	C	NM_032808		77907091	-1	tier1	-	no_errors	ENST00000355300	ensembl	human	known	74_37	silent	29.51	43	18	SNP	1.000	G	G	77907091	C	G	77907091	2	3	31	1	0	0	0	0	0	0	0	1	8844	726	26	5		5	LINGO1	15	77907091	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	2687884	77907091	24624301	167	7522											
STARD5	80765	genome.wustl.edu	37	chr15	81614790	81614790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaaccggtcacattctCatcccacttcactcgtaggc	10	11	5	15	2	4	0	4	0	1	0	7	0	5	0	2	2	1	1	2	2	3	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:81614790C>T	ENST00000302824.6	-	3	266	c.241G>A	c.(241-243)Gag>Aag	p.E81K	RP11-761I4.3_ENST00000559781.1_RNA|STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000560973.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	81	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						GTCACATTCTCATCCCACTTC	0.493																																																	0													169	137	148					15																	81614790		2203	4300	6503	SO:0001583	missense	0			AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"StAR-related lipid transfer (START) domain containing"	18065	protein-coding gene	gene with protein product		607050	"START domain containing 5"			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.241G>A	15.37:g.81614790C>T	ENSP00000304032:p.Glu81Lys		P59094	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.E81K	ENST00000302824.6	37	c.241	CCDS10318.1	15	.	.	.	.	.	.	.	.	.	.	C	6.371	0.436506	0.12104	.	.	ENSG00000172345	ENST00000302824	T	0.78364	-1.17	5.51	4.54	0.55810	Lipid-binding START (3);START-like domain (1);	0.472101	0.22920	N	0.054027	T	0.56140	0.1965	N	0.17082	0.46	0.27582	N	0.949559	B	0.15719	0.014	B	0.09377	0.004	T	0.40175	-0.9577	10	0.02654	T	1	-1.4551	9.8193	0.40871	0.0:0.7019:0.2142:0.0839	.	81	Q9NSY2	STAR5_HUMAN	K	81	ENSP00000304032:E81K	ENSP00000304032:E81K	E	-	1	0	STARD5	79401845	0.996000	0.38824	1.000000	0.80357	0.922000	0.55478	1.287000	0.33284	2.741000	0.93983	0.650000	0.86243	GAG	STARD5	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000172345		0.493	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD5	HGNC	protein_coding	OTTHUMT00000303950.2	-	0	66	0	C			81614790	-1	tier1	-	no_errors	ENST00000302824	ensembl	human	known	74_37	missense	66.67	14	28	SNP	0.990	T	T	81614790	C	T	81614790	3	4	31	1	0	0	0	0	1	0	0	0	15307	835	29	3	416	3	STARD5	15	81614790	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	3707699	81614790	20916602	168	7523											
AKAP13	11214	genome.wustl.edu	37	chr15	86279365	86279365	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcttaaaagaaacagtgaGgtaaggacattatgaactat	18	10	9	4	0	0	3	0	2	0	1	0	4	0	4	0	2	3	2	0	2	7	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:86279365G>T	ENST00000394518.2	+	33	7652	c.7557G>T	c.(7555-7557)gaG>gaT	p.E2519D	AKAP13_ENST00000394510.2_Splice_Site_p.E764D|AKAP13_ENST00000361243.2_Splice_Site_p.E2523D|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2519	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAAACAGTGAGGTAAGGACAT	0.269																																					Melanoma(94;603 1453 3280 32295 32951)												0													112	114	113					15																	86279365		2202	4299	6501	SO:0001630	splice_region_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7557+1G>T	15.37:g.86279365G>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.E2523D	ENST00000394518.2	37	c.7569	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663982	0.88251	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.22336	1.96;1.96;3.18	5.66	5.66	0.87406	.	.	.	.	.	T	0.45296	0.1335	M	0.62723	1.935	0.53688	D	0.999978	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.954	T	0.27971	-1.0058	9	0.62326	D	0.03	.	16.8998	0.86110	0.0:0.0:1.0:0.0	.	2519;2523	Q12802;Q12802-2	AKP13_HUMAN;.	D	2523;2519;2522;2498;764	ENSP00000354718:E2523D;ENSP00000378026:E2519D;ENSP00000378018:E764D	ENSP00000354718:E2523D	E	+	3	2	AKAP13	84080369	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.204000	0.77872	2.669000	0.90835	0.655000	0.94253	GAG	AKAP13	-	NULL	ENSG00000170776		0.269	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1		0	67	0	G	NM_007200	Missense_Mutation	86279365	1			no_errors	ENST00000361243	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	86279365	G	T	86279365	5	4	31	1	0	0	0	0	0	0	1	0	449	1014	35	3	7753	3	AKAP13	15	86279365	Splice_Site	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	4664575	86279365	16252027	169	7524											
ABHD2	11057	genome.wustl.edu	37	chr15	89736499	89736499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctggttaatgcagctGacgatccgttggtgcatgaa	9	12	12	8	2	1	2	1	2	0	0	2	3	2	2	1	2	4	6	1	2	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:89736499G>T	ENST00000352732.5	+	10	1550	c.1030G>T	c.(1030-1032)Gac>Tac	p.D344Y	ABHD2_ENST00000565973.1_Missense_Mutation_p.D344Y|ABHD2_ENST00000355100.3_Missense_Mutation_p.D344Y	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	344					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TAATGCAGCTGACGATCCGTT	0.433																																					Colon(11;252 417 24570 33239 41878)												0													221	178	193					15																	89736499		2200	4299	6499	SO:0001583	missense	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1030G>T	15.37:g.89736499G>T	ENSP00000268129:p.Asp344Tyr		Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.D344Y	ENST00000352732.5	37	c.1030	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	G	29.5	5.007673	0.93287	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.65916	-0.18;-0.18	5.33	5.33	0.75918	Uncharacterised protein family UPF0017, hydrolase-like, conserved site (1);Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	T	0.81847	0.4909	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84225	0.0463	10	0.87932	D	0	-3.4242	19.3947	0.94603	0.0:0.0:1.0:0.0	.	344	P08910	ABHD2_HUMAN	Y	344	ENSP00000268129:D344Y;ENSP00000347217:D344Y	ENSP00000268129:D344Y	D	+	1	0	ABHD2	87537503	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	9.093000	0.94163	2.644000	0.89710	0.563000	0.77884	GAC	ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	ENSG00000140526		0.433	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	-	0	97	0	G			89736499	1	tier1	-	no_errors	ENST00000352732	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	89736499	G	T	89736499	3	4	31	1	0	0	0	0	1	0	0	0	82	1290	45	3	1060	3	ABHD2	15	89736499	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	3457134	89736499	12794893	170	7525											
MAN2A2	4122	genome.wustl.edu	37	chr15	91459419	91459419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcctaggccaagggcTcaaggacaacaagagaacct	13	3	13	12	1	1	1	1	0	0	1	1	3	1	2	4	5	2	1	4	5	6	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr15:91459419T>C	ENST00000559717.1	+	20	3386	c.2927T>C	c.(2926-2928)cTc>cCc	p.L976P	MAN2A2_ENST00000431652.2_Missense_Mutation_p.L484P|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000360468.3_Missense_Mutation_p.L976P|MAN2A2_ENST00000430376.2_Missense_Mutation_p.L166P			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	976					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCCAAGGGCTCAAGGACAAC	0.642																																																	0													97	90	93					15																	91459419		2198	4298	6496	SO:0001583	missense	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2927T>C	15.37:g.91459419T>C	ENSP00000452948:p.Leu976Pro		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.L976P	ENST00000559717.1	37	c.2927	CCDS32332.1	15	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236882	0.79800	.	.	ENSG00000196547	ENST00000360468;ENST00000431652;ENST00000430376	D;D;D	0.86627	-2.15;-2.15;-2.15	5.53	5.53	0.82687	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.94036	0.8089	M	0.87900	2.915	0.80722	D	1	P;D;D	0.64830	0.621;0.994;0.994	P;D;D	0.72982	0.463;0.979;0.968	D	0.94975	0.8120	10	0.87932	D	0	-35.0722	15.3636	0.74503	0.0:0.0:0.0:1.0	.	484;604;976	B4DEU9;B4DIK4;P49641	.;.;MA2A2_HUMAN	P	976;484;166	ENSP00000353655:L976P;ENSP00000388221:L484P;ENSP00000394372:L166P	ENSP00000353655:L976P	L	+	2	0	MAN2A2	89260423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.099000	0.63709	0.477000	0.44152	CTC	MAN2A2	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000196547		0.642	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	-	0	163	0	T	NM_006122		91459419	1	tier1	-	no_errors	ENST00000360468	ensembl	human	known	74_37	missense	60.36	44	67	SNP	1.000	C	C	91459419	T	C	91459419	3	2	31	1	0	0	0	0	1	0	0	0	9253	1551	54	4	3001	4	MAN2A2	15	91459419	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	1722920	91459419	11071973	171	7526											
BTBD12	84464	genome.wustl.edu	37	chr16	3656556	3656556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggagcactcttctgaagCgtgtctcaaacgctcggggt	8	9	14	10	3	3	1	1	1	3	0	5	3	3	2	0	3	3	2	0	3	2	1	rs147872182	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:3656556C>T	ENST00000294008.3	-	3	1319	c.679G>A	c.(679-681)Gct>Act	p.A227T		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	227	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.A227T(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TCTTCTGAAGCGTGTCTCAAA	0.542								Direct reversal of damage																																									1	Substitution - Missense(1)	endometrium(1)						C	THR/ALA	3,4391	6.2+/-15.9	0,3,2194	222	221	221		679	0.3	0	16	dbSNP_134	221	0,8600		0,0,4300	no	missense	SLX4	NM_032444.2	58	0,3,6494	TT,TC,CC		0.0,0.0683,0.0231	probably-damaging	227/1835	3656556	3,12991	2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.679G>A	16.37:g.3656556C>T	ENSP00000294008:p.Ala227Thr		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A227T	ENST00000294008.3	37	c.679	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519860	0.27211	6.83E-4	0.0	ENSG00000188827	ENST00000294008	T	0.01172	5.23	5.16	0.307	0.15811	.	0.828114	0.10825	N	0.629986	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46830	-0.9163	10	0.16420	T	0.52	.	6.9685	0.24637	0.0:0.4325:0.0:0.5675	.	227	Q8IY92	SLX4_HUMAN	T	227	ENSP00000294008:A227T	ENSP00000294008:A227T	A	-	1	0	SLX4	3596557	0.000000	0.05858	0.004000	0.12327	0.098000	0.18820	-0.425000	0.07017	0.268000	0.21939	-0.137000	0.14449	GCT	SLX4	-	NULL	ENSG00000188827		0.542	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	-	0	63	0	C	NM_032444		3656556	-1	tier1	rs147872182	no_errors	ENST00000294008	ensembl	human	known	74_37	missense	48.15	28	26	SNP	0.015	T	T	3656556	C	T	3656556	3	4	31	1	0	0	0	0	1	0	0	0	1544	768	27	1	4877	1	BTBD12	16	3656556	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		3656556	86698197	172	7527											
ERI2	112479	genome.wustl.edu	37	chr16	20809366	20809366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattttcccactcttccatgGctcttgtaggttaactgtag	7	16	7	11	0	2	0	0	0	2	0	4	0	4	0	2	2	1	4	2	2	3	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:20809366G>C	ENST00000357967.4	-	9	1798	c.1756C>G	c.(1756-1758)Cca>Gca	p.P586A	ERI2_ENST00000569729.1_3'UTR|ERI2_ENST00000564349.1_Missense_Mutation_p.P493A|ERI2_ENST00000389345.5_Missense_Mutation_p.P321A|ERI2_ENST00000300005.3_Intron|ERI2_ENST00000563117.1_Missense_Mutation_p.P493A	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	586							exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						CTCTTCCATGGCTCTTGTAGG	0.423																																																	0													106	85	91					16																	20809366		692	1591	2283	SO:0001583	missense	0			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"Enhanced RNAi three prime mRNA exonucleases"	30541	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)", "exoribonuclease 2", "zinc finger, GRF-type containing 5"		"exonuclease domain containing 1"	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.1756C>G	16.37:g.20809366G>C	ENSP00000350651:p.Pro586Ala		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.P586A	ENST00000357967.4	37	c.1756	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752695	0.15778	.	.	ENSG00000196678	ENST00000357967;ENST00000389345	T;T	0.18960	2.19;2.18	5.63	2.61	0.31194	.	0.427905	0.23014	N	0.052934	T	0.15739	0.0379	L	0.54323	1.7	0.20926	N	0.999821	P	0.39282	0.666	B	0.32149	0.141	T	0.15838	-1.0423	10	0.12766	T	0.61	-7.6795	11.4128	0.49935	0.1991:0.0:0.8009:0.0	.	586	A8K979	ERI2_HUMAN	A	586;321	ENSP00000350651:P586A;ENSP00000373996:P321A	ENSP00000350651:P586A	P	-	1	0	ERI2	20716867	0.990000	0.36364	0.959000	0.39883	0.434000	0.31775	2.142000	0.42177	0.764000	0.33197	-0.194000	0.12790	CCA	ERI2	-	NULL	ENSG00000196678		0.423	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		-	0	77	0	G	NM_080663		20809366	-1	tier1	-	no_errors	ENST00000357967	ensembl	human	known	74_37	missense	36.51	40	23	SNP	0.491	C	C	20809366	G	C	20809366	3	2	31	1	0	0	0	0	1	0	0	0	5244	1203	42	5	590	5	ERI2	16	20809366	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	17152810	20809366	69545387	173	7528											
TMEM159	57146	genome.wustl.edu	37	chr16	21181911	21181911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctggctgctctgctggggGtcataatattggaaggtagc	7	11	14	9	0	2	0	1	0	1	0	2	1	2	1	1	5	3	4	1	5	4	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:21181911G>A	ENST00000233047.4	+	3	718	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Missense_Mutation_p.V84I|TMEM159_ENST00000451578.2_Missense_Mutation_p.V108I|TMEM159_ENST00000572258.1_Missense_Mutation_p.V84I|TMEM159_ENST00000572599.1_Missense_Mutation_p.V84I			Q96B96	TM159_HUMAN	transmembrane protein 159	84						integral component of membrane (GO:0016021)				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TCTGCTGGGGGTCATAATATT	0.448																																																	0													175	145	155					16																	21181911		2200	4300	6500	SO:0001583	missense	0			AF070596	CCDS10595.1	16p12.2	2008-02-05			ENSG00000011638	ENSG00000011638			30136	protein-coding gene	gene with protein product		611304				8619474, 9110174, 15589683	Standard	NM_020422		Approved	promethin	uc002dif.4	Q96B96	OTTHUMG00000131559	ENST00000233047.4:c.250G>A	16.37:g.21181911G>A	ENSP00000233047:p.Val84Ile		A6NMA9|B4DEC1|O00323	Missense_Mutation	SNP	NULL	p.V108I	ENST00000233047.4	37	c.322	CCDS10595.1	16	.	.	.	.	.	.	.	.	.	.	G	13.00	2.106616	0.37145	.	.	ENSG00000011638	ENST00000233047;ENST00000261388;ENST00000451578	T;T;T	0.23147	1.92;1.92;1.92	5.48	5.48	0.80851	.	0.158356	0.41097	D	0.000950	T	0.40743	0.1129	M	0.72894	2.215	0.38106	D	0.937417	B;D	0.55385	0.319;0.971	B;P	0.50049	0.067;0.629	T	0.43491	-0.9388	10	0.51188	T	0.08	-0.083	16.8534	0.86000	0.0:0.0:1.0:0.0	.	108;84	B4DEC1;Q96B96	.;TM159_HUMAN	I	84;84;108	ENSP00000233047:V84I;ENSP00000261388:V84I;ENSP00000409879:V108I	ENSP00000233047:V84I	V	+	1	0	TMEM159	21089412	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	4.109000	0.57824	2.559000	0.86315	0.655000	0.94253	GTC	TMEM159	-	NULL	ENSG00000011638		0.448	TMEM159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM159	HGNC	protein_coding	OTTHUMT00000254421.1	-	0	73	0	G	NM_020422		21181911	1	tier1	-	no_errors	ENST00000573487	ensembl	human	known	74_37	missense	23.96	73	23	SNP	1.000	A	A	21181911	G	A	21181911	3	1	31	1	0	0	0	0	1	0	0	0	16121	1261	44	3	256	3	TMEM159	16	21181911	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	372545	21181911	69172842	174	7529											
GSG1L	146395	genome.wustl.edu	37	chr16	27840120	27840120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcactgacctctcccggaAgtacttgatggcctcagggt	7	10	12	12	1	2	2	1	2	1	0	3	3	2	3	3	3	2	2	3	3	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:27840120A>C	ENST00000447459.2	-	5	904	c.820T>G	c.(820-822)Ttc>Gtc	p.F274V	GSG1L_ENST00000380898.2_Missense_Mutation_p.F119V|GSG1L_ENST00000569166.1_Missense_Mutation_p.F119V|GSG1L_ENST00000380897.3_Missense_Mutation_p.F119V|GSG1L_ENST00000395724.3_Missense_Mutation_p.F223V	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	274					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CTCTCCCGGAAGTACTTGATG	0.602																																																	0													94	81	86					16																	27840120		2197	4300	6497	SO:0001583	missense	0			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.820T>G	16.37:g.27840120A>C	ENSP00000394954:p.Phe274Val		Q7Z6F8|Q8TB81	Missense_Mutation	SNP	pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin	p.F274V	ENST00000447459.2	37	c.820	CCDS45450.1	16	.	.	.	.	.	.	.	.	.	.	A	16.39	3.109326	0.56398	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.36157	1.31;1.27	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	N	0.19112	0.55	0.53005	D	0.999967	P;P;P	0.47962	0.794;0.903;0.9	B;B;B	0.43052	0.31;0.406;0.219	T	0.02698	-1.1122	10	0.29301	T	0.29	2.0183	8.7845	0.34811	0.9138:0.0:0.0862:0.0	.	223;119;274	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	V	274;223;119;119	ENSP00000394954:F274V;ENSP00000379074:F223V	ENSP00000370282:F119V	F	-	1	0	GSG1L	27747621	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.332000	0.72934	1.986000	0.57962	0.528000	0.53228	TTC	GSG1L	-	NULL	ENSG00000169181		0.602	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG1L	HGNC	protein_coding	OTTHUMT00000433832.2	-	0	49	0	A	NM_144675		27840120	-1	tier1	-	no_errors	ENST00000447459	ensembl	human	known	74_37	missense	56.72	29	38	SNP	1.000	C	C	27840120	A	C	27840120	3	2	31	1	0	0	0	0	1	0	0	0	6848	72	3	4	187	4	GSG1L	16	27840120	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	6658209	27840120	62514633	175	7530											
ZNF646	9726	genome.wustl.edu	37	chr16	31088964	31088964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagccatcagtcccacCagctcccctgctgctggctg	5	8	11	17	0	1	0	1	0	0	0	3	0	3	0	5	2	4	5	5	2	0	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:31088964C>T	ENST00000394979.2	+	1	1742	c.1319C>T	c.(1318-1320)cCa>cTa	p.P440L	ZNF646_ENST00000300850.5_Missense_Mutation_p.P440L			O15015	ZN646_HUMAN	zinc finger protein 646	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TCAGTCCCACCAGCTCCCCTG	0.592																																																	0													57	67	64					16																	31088964		2197	4299	6496	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1319C>T	16.37:g.31088964C>T	ENSP00000378429:p.Pro440Leu		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P440L	ENST00000394979.2	37	c.1319		16	.	.	.	.	.	.	.	.	.	.	C	1.327	-0.597852	0.03771	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.10573	2.86;2.9	5.21	2.21	0.28008	.	.	.	.	.	T	0.05914	0.0154	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42275	-0.9461	9	0.27785	T	0.31	3.7704	7.8645	0.29528	0.0:0.6693:0.0:0.3307	.	440	O15015-2	.	L	440	ENSP00000300850:P440L;ENSP00000378429:P440L	ENSP00000300850:P440L	P	+	2	0	ZNF646	30996465	0.001000	0.12720	0.002000	0.10522	0.071000	0.16799	1.257000	0.32932	0.226000	0.20979	0.655000	0.94253	CCA	ZNF646	-	NULL	ENSG00000167395		0.592	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	64	0	C	NM_014699		31088964	1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	31088964	C	T	31088964	3	4	31	1	0	0	0	0	1	0	0	0	18110	594	21	3	1321	3	ZNF646	16	31088964	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	3248844	31088964	59265789	176	7531											
ITGAM	3684	genome.wustl.edu	37	chr16	31341216	31341216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggaccgcccccaggtcaCcttctccgaggtgagcggag	7	6	14	14	3	2	1	1	1	1	0	3	4	2	3	5	4	1	0	5	4	0	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:31341216C>T	ENST00000287497.8	+	25	3041	c.2966C>T	c.(2965-2967)aCc>aTc	p.T989I	ITGAM_ENST00000544665.3_Missense_Mutation_p.T990I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	989					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCCAGGTCACCTTCTCCGAG	0.632																																																	0													29	34	33					16																	31341216		1997	4138	6135	SO:0001583	missense	0			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2966C>T	16.37:g.31341216C>T	ENSP00000287497:p.Thr989Ile		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.T990I	ENST00000287497.8	37	c.2969	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	C	5.113	0.206453	0.09704	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.23552	1.9;1.9	5.06	-5.18	0.02840	Integrin alpha-2 (1);	.	.	.	.	T	0.11623	0.0283	N	0.25144	0.715	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	T	0.33033	-0.9884	9	0.21540	T	0.41	.	2.9961	0.05998	0.1158:0.2452:0.115:0.524	.	989;989	Q4VAK1;P11215	.;ITAM_HUMAN	I	990;989	ENSP00000441691:T990I;ENSP00000287497:T989I	ENSP00000287497:T989I	T	+	2	0	ITGAM	31248717	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.046000	0.03525	-0.789000	0.04498	0.557000	0.71058	ACC	ITGAM	-	pfam_Integrin_alpha-2	ENSG00000169896		0.632	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	-	0	16	0	C	NM_000632		31341216	1	tier1	-	no_errors	ENST00000544665	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.000	T	T	31341216	C	T	31341216	3	4	31	1	0	0	0	0	1	0	0	0	7914	507	18	3	3067	3	ITGAM	16	31341216	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	252252	31341216	59013537	177	7532											
PHKB	5257	genome.wustl.edu	37	chr16	47699944	47699944	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttagtgcagggcaaacagGtaagtatttgcttttcagac	11	14	10	6	0	1	1	1	0	0	1	1	1	1	1	0	2	3	5	0	2	4	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:47699944G>A	ENST00000323584.5	+	25	2451				PHKB_ENST00000299167.8_Splice_Site|PHKB_ENST00000566044.1_Splice_Site|PHKB_ENST00000455779.1_Intron	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGGCAAACAGGTAAGTATTTG	0.463																																																	0													86	86	86					16																	47699944		1861	4102	5963	SO:0001627	intron_variant	0				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2427+1058G>A	16.37:g.47699944G>A			Q8N4T5	Splice_Site	SNP	-	e25+1	ENST00000323584.5	37	c.2427+1	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646005	0.87958	.	.	ENSG00000102893	ENST00000299167	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.125	0.93378	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHKB	46257445	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.535000	0.98064	2.572000	0.86782	0.650000	0.86243	.	PHKB	-	-	ENSG00000102893		0.463	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	-	0	60	0	G			47699944	1	tier1	-	no_errors	ENST00000299167	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	A	A	47699944	G	A	47699944	1	1	31	0	1	0	0	0	0	0	0	0	11884	1275	44	3		3	PHKB	16	47699944	Intron	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	16358728	47699944	42654809	178	7533											
TMEM188	255919	genome.wustl.edu	37	chr16	50063691	50063691	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcctggaactggttaatAgaccctgagacacaaaaggt	13	8	12	8	0	0	2	0	1	0	2	0	4	0	3	2	4	2	1	2	4	5	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:50063691A>T	ENST00000427478.2	+	3	207	c.153A>T	c.(151-153)atA>atT	p.I51I	CNEP1R1_ENST00000565556.1_Silent_p.I19I|CNEP1R1_ENST00000458059.3_Silent_p.I68I|CNEP1R1_ENST00000562576.1_Silent_p.I51I	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	51					lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											ACTGGTTAATAGACCCTGAGA	0.318																																																	0													179	160	166					16																	50063691		1853	4083	5936	SO:0001819	synonymous_variant	0			AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"nuclear envelope phosphatase 1-regulatory subunit 1"		"chromosome 16 open reading frame 69", "transmembrane protein 188"	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.153A>T	16.37:g.50063691A>T			Q4G1A9|Q5H9V0|Q8NE06	Silent	SNP	pfam_Transmembrane_protein_188	p.I68	ENST00000427478.2	37	c.204		16																																																																																			CNEP1R1	-	pfam_Transmembrane_protein_188	ENSG00000205423		0.318	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	CNEP1R1	HGNC	protein_coding		-	0	101	0	A	NM_153261		50063691	1	tier1	-	no_errors	ENST00000458059	ensembl	human	known	74_37	silent	16.94	103	21	SNP	1.000	T	T	50063691	A	T	50063691	2	4	31	1	0	0	0	0	0	0	0	1	16157	410	15	5		5	TMEM188	16	50063691	Silent	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	2363747	50063691	40291062	179	7534											
CMTM2	146225	genome.wustl.edu	37	chr16	66613777	66613777	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcttggggcacgctgaGatcaagattcggagtttggt	7	12	15	7	2	2	2	1	1	1	2	3	4	2	3	0	5	0	4	0	5	1	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:66613777G>C	ENST00000268595.2	+	1	418	c.267G>C	c.(265-267)gaG>gaC	p.E89D	RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000379486.2_Missense_Mutation_p.E89D	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	89	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGCACGCTGAGATCAAGATTC	0.597																																																	0													41	45	44					16																	66613777		2201	4300	6501	SO:0001583	missense	0			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"chemokine-like factor super family 2", "chemokine-like factor superfamily 2"	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.267G>C	16.37:g.66613777G>C	ENSP00000268595:p.Glu89Asp		Q5I2A4|Q8N7E5	Missense_Mutation	SNP	NULL	p.E89D	ENST00000268595.2	37	c.267	CCDS10814.1	16	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847981	0.51164	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.49432	0.78;1.43	4.51	2.53	0.30540	Marvel (1);	1.012970	0.07912	N	0.974506	T	0.52837	0.1759	L	0.48642	1.525	0.09310	N	1	D;D	0.56968	0.978;0.978	P;P	0.56343	0.796;0.647	T	0.35351	-0.9792	10	0.48119	T	0.1	-22.373	5.9933	0.19478	0.1045:0.2173:0.6783:0.0	.	89;89	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	D	89	ENSP00000368800:E89D;ENSP00000268595:E89D	ENSP00000268595:E89D	E	+	3	2	CMTM2	65171278	0.667000	0.27484	0.050000	0.19076	0.305000	0.27757	0.850000	0.27737	0.805000	0.34159	0.561000	0.74099	GAG	CMTM2	-	NULL	ENSG00000140932		0.597	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMTM2	HGNC	protein_coding	OTTHUMT00000268808.1	-	0	62	0	G			66613777	1	tier1	-	no_errors	ENST00000268595	ensembl	human	known	74_37	missense	37.14	44	26	SNP	0.057	C	C	66613777	G	C	66613777	3	2	31	1	0	0	0	0	1	0	0	0	3590	933	33	5	269	5	CMTM2	16	66613777	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	16550086	66613777	23740976	180	7535											
FHOD1	29109	genome.wustl.edu	37	chr16	67268058	67268058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggtatcagtggctcCttgggctctggtgcaaggct	4	13	14	10	0	2	0	1	0	1	0	3	0	3	0	1	5	2	6	1	5	2	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:67268058C>T	ENST00000258201.4	-	13	1795	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	516	FH1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCAGTGGCTCCTTGGGCTCTG	0.637																																																	0													64	70	68					16																	67268058		2198	4300	6498	SO:0001819	synonymous_variant	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1548G>A	16.37:g.67268058C>T			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.K516	ENST00000258201.4	37	c.1548	CCDS10834.1	16																																																																																			FHOD1	-	NULL	ENSG00000135723		0.637	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	-	0	124	0	C			67268058	-1	tier1	-	no_errors	ENST00000258201	ensembl	human	known	74_37	silent	16.67	95	19	SNP	0.034	T	T	67268058	C	T	67268058	2	4	31	1	0	0	0	0	0	0	0	1	5904	680	24	3		3	FHOD1	16	67268058	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	654281	67268058	23086695	181	7536											
ZFP90	146198	genome.wustl.edu	37	chr16	68598471	68598471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagagccttccgaaaaaaaaCcaacctgcatgatcatcaga	17	6	7	11	1	2	3	2	1	0	2	3	5	3	3	4	0	4	1	4	0	5	1	rs375588905		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:68598471C>A	ENST00000570495.1	+	5	2073	c.1781C>A	c.(1780-1782)aCc>aAc	p.T594N	ZFP90_ENST00000398253.2_Missense_Mutation_p.T594N|ZFP90_ENST00000563169.2_Missense_Mutation_p.T594N			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	594					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CGAAAAAAAACCAACCTGCAT	0.408																																																	0																																										SO:0001583	missense	0			AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"Zinc fingers, C2H2-type", "-"	23329	protein-coding gene	gene with protein product		609451	"zinc finger protein 90 homolog (mouse)"			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1781C>A	16.37:g.68598471C>A	ENSP00000460547:p.Thr594Asn		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T594N	ENST00000570495.1	37	c.1781	CCDS42183.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.927|9.927	1.213675|1.213675	0.22289|0.22289	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000327567|ENST00000398253	.|T	.|0.07444	.|3.19	5.64|5.64	4.68|4.68	0.58851|0.58851	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.05960|0.05960	0.0155|0.0155	N|N	0.20304|0.20304	0.555|0.555	0.09310|0.09310	N|N	1|1	.|B	.|0.26483	.|0.15	.|B	.|0.19946	.|0.027	T|T	0.16689|0.16689	-1.0394|-1.0394	6|9	0.22109|0.66056	T|D	0.4|0.02	-8.22|-8.22	7.5237|7.5237	0.27643|0.27643	0.0:0.7446:0.1688:0.0866|0.0:0.7446:0.1688:0.0866	.|.	.|594	.|Q8TF47	.|ZFP90_HUMAN	T|N	67|594	.|ENSP00000381304:T594N	ENSP00000329859:P67T|ENSP00000381304:T594N	P|T	+|+	1|2	0|0	ZFP90|ZFP90	67155972|67155972	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	0.030000|0.030000	0.13688|0.13688	2.833000|2.833000	0.97629|0.97629	0.555000|0.555000	0.69702|0.69702	CCA|ACC	ZFP90	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184939		0.408	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP90	HGNC	protein_coding	OTTHUMT00000436217.3	-	0	60	0	C	XM_085375		68598471	1	tier1	-	no_errors	ENST00000398253	ensembl	human	known	74_37	missense	27.84	70	27	SNP	0.003	A	A	68598471	C	A	68598471	3	1	31	1	0	0	0	0	1	0	0	0	17702	507	18	3	1795	3	ZFP90	16	68598471	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1330413	68598471	21756282	182	7537											
HAS3	3038	genome.wustl.edu	37	chr16	69147349	69147349	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactccctctgcaggtgtgCgactctgacactgtgctgga	6	10	12	13	1	2	1	0	1	2	0	3	3	3	2	1	2	3	3	1	2	0	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:69147349C>T	ENST00000306560.1	+	3	798	c.642C>T	c.(640-642)tgC>tgT	p.C214C	HAS3_ENST00000219322.3_Silent_p.C214C|HAS3_ENST00000569188.1_Silent_p.C214C	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	214					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)	p.C214C(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCAGGTGTGCGACTCTGACA	0.612											OREG0023905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	large_intestine(2)											107	95	99					16																	69147349		2198	4300	6498	SO:0001819	synonymous_variant	0			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.642C>T	16.37:g.69147349C>T		1112	A8K5T5|Q8WTZ0|Q9NYP0	Silent	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.C214	ENST00000306560.1	37	c.642	CCDS10871.1	16																																																																																			HAS3	-	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	ENSG00000103044		0.612	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2		0	40	0	C	NM_138612		69147349	1			no_errors	ENST00000306560	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.987	T	T	69147349	C	T	69147349	2	4	31	1	0	0	0	0	0	0	0	1	6990	776	27	1		1	HAS3	16	69147349	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	548878	69147349	21207404	183	7538											
HYDIN	54768	genome.wustl.edu	37	chr16	70942309	70942309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgttacctcgccattggCtggcacgatccaccggaagt	9	8	10	14	4	0	0	0	0	0	0	2	2	1	1	4	3	2	3	4	3	3	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:70942309C>T	ENST00000393567.2	-	49	8392	c.8242G>A	c.(8242-8244)Gcc>Acc	p.A2748T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2748					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCGCCATTGGCTGGCACGATC	0.498																																																	0													5	5	5					16																	70942309		1740	3933	5673	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8242G>A	16.37:g.70942309C>T	ENSP00000377197:p.Ala2748Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.A2748T	ENST00000393567.2	37	c.8242	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675057	0.67928	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01369	4.97	5.39	3.38	0.38709	.	0.253773	0.19280	U	0.118196	T	0.05410	0.0143	M	0.72894	2.215	0.80722	D	1	D	0.53151	0.958	P	0.55161	0.77	T	0.42120	-0.9470	10	0.34782	T	0.22	.	15.2163	0.73270	0.0:0.7234:0.2766:0.0	.	2747	F8WD23	.	T	2748;2747	ENSP00000377197:A2748T	ENSP00000313052:A2747T	A	-	1	0	HYDIN	69499810	0.997000	0.39634	0.972000	0.41901	0.585000	0.36419	1.849000	0.39318	0.616000	0.30141	-0.241000	0.12123	GCC	HYDIN	-	NULL	ENSG00000157423		0.498	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	69	0	C			70942309	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	32.79	41	20	SNP	0.985	T	T	70942309	C	T	70942309	3	4	31	1	0	0	0	0	1	0	0	0	7494	797	28	3	7275	3	HYDIN	16	70942309	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1794960	70942309	19412444	184	7539											
LDHD	84937	genome.wustl.edu	37	chr16	75147474	75147474	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctgcgtaccaggcatTgtgccgtgctgtccaaagcc	7	8	13	13	2	0	0	0	0	0	0	1	0	1	0	4	2	5	4	4	2	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr16:75147474T>C	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Missense_Mutation_p.N349D|LDHD_ENST00000300051.4_Missense_Mutation_p.N372D|RP11-252E2.1_ENST00000499110.1_RNA	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TACCAGGCATTGTGCCGTGCT	0.647																																																	0													21	24	23					16																	75147474		2196	4297	6493	SO:0001628	intergenic_variant	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"RING-type (C3HC4) zinc fingers"	18452	protein-coding gene	gene with protein product		612060	"zinc and ring finger 1"				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75147474T>C			D3DUJ9|Q9H083	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.N372D	ENST00000335325.4	37	c.1114	CCDS10912.1	16	.	.	.	.	.	.	.	.	.	.	T	7.941	0.742798	0.15642	.	.	ENSG00000166816	ENST00000450168;ENST00000300051	D;D	0.87571	-2.27;-2.27	5.09	5.09	0.68999	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);	0.236955	0.42821	D	0.000645	T	0.79347	0.4430	N	0.25426	0.745	0.39254	D	0.964082	B;B	0.10296	0.002;0.003	B;B	0.18871	0.008;0.023	T	0.74423	-0.3670	10	0.14656	T	0.56	-13.0794	14.8687	0.70437	0.0:0.0:0.0:1.0	.	349;372	Q86WU2-2;Q86WU2	.;LDHD_HUMAN	D	349;372	ENSP00000417011:N349D;ENSP00000300051:N372D	ENSP00000300051:N372D	N	-	1	0	LDHD	73704975	0.998000	0.40836	0.976000	0.42696	0.030000	0.12068	1.868000	0.39509	1.916000	0.55485	0.379000	0.24179	AAT	LDHD	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C	ENSG00000166816		0.647	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000269020.2	-	0	46	0	T			75147474	-1	tier1	-	no_errors	ENST00000300051	ensembl	human	known	74_37	missense	48.15	28	26	SNP	1.000	C	C	75147474	T	C	75147474	1	2	31	0	1	0	0	0	0	0	0	0	8731	1812	63	4		4	LDHD	16	75147474	IGR	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	4205165	75147474	15207279	185	7540											
C17orf74	201243	genome.wustl.edu	37	chr17	7330415	7330415	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtccccacccatccacgGaacccttgggctacagctcc	8	6	8	19	1	0	0	0	0	0	0	3	1	3	1	6	2	3	3	6	2	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:7330415G>T	ENST00000333870.3	+	3	1179	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	369						integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCCATCCACGGAACCCTTGGG	0.697																																																	0													27	35	32					17																	7330415		2113	4216	6329	SO:0001587	stop_gained	0			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.1105G>T	17.37:g.7330415G>T	ENSP00000328061:p.Glu369*			Nonsense_Mutation	SNP	NULL	p.E369*	ENST00000333870.3	37	c.1105	CCDS42255.1	17	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035779	0.35893	.	.	ENSG00000184560	ENST00000333870	.	.	.	4.72	2.56	0.30785	.	0.365817	0.20017	N	0.100995	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-11.4457	4.6817	0.12738	0.1123:0.0:0.6699:0.2178	.	.	.	.	X	369	.	ENSP00000328061:E369X	E	+	1	0	C17orf74	7271139	0.028000	0.19301	0.613000	0.29037	0.024000	0.10985	1.714000	0.37961	2.331000	0.79229	0.491000	0.48974	GAA	C17orf74	-	NULL	ENSG00000184560		0.697	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf74	HGNC	protein_coding	OTTHUMT00000440933.2	-	0	82	0	G	NM_175734		7330415	1	tier1	-	no_errors	ENST00000333870	ensembl	human	known	74_37	nonsense	6.58	70	5	SNP	0.081	T	T	7330415	G	T	7330415	4	4	31	1	0	0	0	0	0	1	0	0	1885	1175	41	3	1115	3	C17orf74	17	7330415	Nonsense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		7330415	73864795	186	7541											
TP53	7157	genome.wustl.edu	37	chr17	7578427	7578427	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacaacctccgtcatgTgctgtgactgcttgtagatg	7	12	10	12	1	2	2	2	1	0	1	3	2	3	2	3	0	3	3	3	0	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:7578427T>C	ENST00000269305.4	-	5	692	c.503A>G	c.(502-504)cAc>cGc	p.H168R	TP53_ENST00000455263.2_Missense_Mutation_p.H168R|TP53_ENST00000420246.2_Missense_Mutation_p.H168R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H168R|TP53_ENST00000413465.2_Missense_Mutation_p.H168R|TP53_ENST00000359597.4_Missense_Mutation_p.H168R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	168	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> V (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|H -> Y (in sporadic cancers; somatic mutation).|HM -> LI (in a sporadic cancer; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H168R(12)|p.H168P(10)|p.0?(8)|p.H168L(8)|p.V157_C176del20(1)|p.H36L(1)|p.Q167_H168>YL(1)|p.H168fs*69(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.H168fs*2(1)|p.H168fs*3(1)|p.H168fs*4(1)|p.Q165_M169delQSQHM(1)|p.H168_M169>LI(1)|p.H168fs*13(1)|p.S149fs*72(1)|p.H75L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCCGTCATGTGCTGTGACTG	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	53	Substitution - Missense(32)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - compound substitution(2)|Insertion - Frameshift(1)	lung(10)|breast(8)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|upper_aerodigestive_tract(2)|liver(2)|skin(2)|ovary(2)|vulva(1)|soft_tissue(1)|endometrium(1)											54	54	54					17																	7578427		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.503A>G	17.37:g.7578427T>C	ENSP00000269305:p.His168Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H168R	ENST00000269305.4	37	c.503	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556919	0.45590	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.59	0.619	0.17630	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.433617	0.26390	N	0.024660	D	0.99563	0.9843	M	0.88105	2.93	0.40329	D	0.978904	D;D;B;D;P;P;D	0.62365	0.964;0.974;0.442;0.98;0.865;0.905;0.991	P;D;B;D;D;P;P	0.64506	0.781;0.924;0.277;0.918;0.926;0.896;0.851	D	0.98366	1.0551	10	0.72032	D	0.01	-5.8035	1.5779	0.02628	0.1555:0.1517:0.1294:0.5634	.	129;168;168;75;168;168;168	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	168;168;168;168;168;168;157;75;36;75;36	ENSP00000410739:H168R;ENSP00000352610:H168R;ENSP00000269305:H168R;ENSP00000398846:H168R;ENSP00000391127:H168R;ENSP00000391478:H168R;ENSP00000425104:H36R;ENSP00000423862:H75R	ENSP00000269305:H168R	H	-	2	0	TP53	7519152	1.000000	0.71417	0.001000	0.08648	0.147000	0.21601	5.155000	0.64900	-0.137000	0.11455	-0.256000	0.11100	CAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	45	0	T	NM_000546		7578427	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	62.96	10	17	SNP	0.995	C	C	7578427	T	C	7578427	3	2	31	1	0	0	0	0	1	0	0	0	16429	1696	59	4	795	4	TP53	17	7578427	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	248012	7578427	73616783	187	7542											
SLC5A10	125206	genome.wustl.edu	37	chr17	18916758	18916758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccgtccgagtgcctgCgggcctgcggggccgaggtc	2	7	19	13	5	0	0	0	0	0	0	2	2	1	0	5	5	4	0	5	5	0	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:18916758C>T	ENST00000395645.3	+	10	1036	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SLC5A10_ENST00000395642.1_Missense_Mutation_p.R273W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Missense_Mutation_p.R273W|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R313W|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R356W	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	340					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CGAGTGCCTGCGGGCCTGCGG	0.627																																																	0													62	54	57					17																	18916758		2203	4300	6503	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1018C>T	17.37:g.18916758C>T	ENSP00000379007:p.Arg340Trp		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R356W	ENST00000395645.3	37	c.1066	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095605	0.56075	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000395645;ENST00000395643	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.04	2.99	0.34606	.	0.284419	0.34002	N	0.004360	D	0.93291	0.7862	M	0.84846	2.72	0.45307	D	0.998307	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	P;P;P;D	0.66716	0.761;0.846;0.888;0.946	D	0.93250	0.6634	10	0.87932	D	0	.	9.1701	0.37076	0.1604:0.6835:0.1561:0.0	.	313;340;356;273	A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;SC5AA_HUMAN;.;.	W	273;356;273;340;313	ENSP00000324346:R273W;ENSP00000379008:R356W;ENSP00000379004:R273W;ENSP00000379007:R340W;ENSP00000379005:R313W	ENSP00000324346:R273W	R	+	1	2	SLC5A10	18857483	0.002000	0.14202	1.000000	0.80357	0.423000	0.31445	0.370000	0.20433	1.978000	0.57642	0.313000	0.20887	CGG	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0	53	0	C	NM_152351		18916758	1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	18916758	C	T	18916758	3	4	31	1	0	0	0	0	1	0	0	0	14707	759	27	1	1104	1	SLC5A10	17	18916758	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	11338331	18916758	62278452	188	7543											
SARM1	23098	genome.wustl.edu	37	chr17	26708470	26708470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgcacgggggccaggCggtgcagcgacgcatggtag	6	4	19	12	6	0	0	0	0	0	0	0	1	0	0	1	5	3	5	1	5	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:26708470C>A	ENST00000457710.3	+	2	1088	c.617C>A	c.(616-618)gCg>gAg	p.A206E	SARM1_ENST00000379061.4_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Silent_p.G260G	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	240					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGGGGCCAGGCGGTGCAGCGA	0.716																																																	0													5	6	5					17																	26708470		2084	4111	6195	SO:0001583	missense	0			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"Sterile alpha motif (SAM) domain containing"	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.617C>A	17.37:g.26708470C>A	ENSP00000406738:p.Ala206Glu		O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.A206E	ENST00000457710.3	37	c.617		17	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312360	0.23908	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.22	2.92	0.33932	Armadillo-like helical (1);Armadillo-type fold (1);	0.347413	0.30011	N	0.010637	T	0.12987	0.0315	.	.	.	0.23043	N	0.998389	B	0.12630	0.006	B	0.15052	0.012	T	0.34675	-0.9819	8	0.02654	T	1	-4.1794	5.79	0.18355	0.118:0.4624:0.3413:0.0783	.	240	Q6SZW1	SARM1_HUMAN	E	238;206	.	ENSP00000003834:A206E	A	+	2	0	SARM1	23732597	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	1.541000	0.36126	0.417000	0.25871	0.563000	0.77884	GCG	SARM1	-	superfamily_ARM-type_fold	ENSG00000004139		0.716	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3		0	20	0	C	NM_015077		26708470	1			no_errors	ENST00000457710	ensembl	human	novel	74_37	missense	31.25	11	5	SNP	0.980	A	A	26708470	C	A	26708470	3	1	31	1	0	0	0	0	1	0	0	0	13887	768	27	2	723	2	SARM1	17	26708470	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	7791712	26708470	54486740	189	7544											
CPD	1362	genome.wustl.edu	37	chr17	28706683	28706683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagtttagcaccggcgaaCcccccgccctggacgaggtg	8	5	12	16	4	0	0	0	0	0	0	0	3	0	1	6	3	2	2	6	3	2	2	rs530282755		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:28706683C>A	ENST00000225719.4	+	1	761	c.685C>A	c.(685-687)Ccc>Acc	p.P229T	CPD_ENST00000543464.2_5'Flank	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	229	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CACCGGCGAACCCCCCGCCCT	0.701																																																	0																																										SO:0001583	missense	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.685C>A	17.37:g.28706683C>A	ENSP00000225719:p.Pro229Thr		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.P229T	ENST00000225719.4	37	c.685	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148457	0.21288	.	.	ENSG00000108582	ENST00000225719	T	0.03152	4.03	3.7	2.69	0.31865	Peptidase M14, carboxypeptidase A (2);	0.662303	0.14231	N	0.332757	T	0.11367	0.0277	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42310	-0.9459	10	0.10902	T	0.67	.	5.592	0.17307	0.1982:0.6991:0.0:0.1026	.	229	O75976	CBPD_HUMAN	T	229	ENSP00000225719:P229T	ENSP00000225719:P229T	P	+	1	0	CPD	25730809	0.997000	0.39634	0.980000	0.43619	0.869000	0.49853	1.431000	0.34925	0.722000	0.32252	0.454000	0.30748	CCC	CPD	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000108582		0.701	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3	-	0	17	0	C	NM_001304		28706683	1	tier1	-	no_errors	ENST00000225719	ensembl	human	known	74_37	missense	32.00	16	8	SNP	0.847	A	A	28706683	C	A	28706683	3	1	31	1	0	0	0	0	1	0	0	0	3805	507	18	3	687	3	CPD	17	28706683	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1998213	28706683	52488527	190	7545											
PSME3	10197	genome.wustl.edu	37	chr17	40990730	40990730	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaggcaaaggtcctcatAtatgttttgacctccaggtc	9	13	8	11	0	2	1	2	1	0	0	5	1	4	1	3	3	0	2	3	3	3	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:40990730A>G	ENST00000590720.1	+	7	638				PSME3_ENST00000545225.1_Intron|PSME3_ENST00000293362.3_Missense_Mutation_p.I143V|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Intron|PSME3_ENST00000541124.1_Intron			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGGTCCTCATATATGTTTTGA	0.463																																																	0													76	78	77					17																	40990730		2203	4300	6503	SO:0001627	intron_variant	0			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"Proteasome (prosome, macropain) subunits"	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.406-18A>G	17.37:g.40990730A>G			A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.I143V	ENST00000590720.1	37	c.427	CCDS45689.1	17	.	.	.	.	.	.	.	.	.	.	A	2.111	-0.403685	0.04832	.	.	ENSG00000131467	ENST00000293362	T	0.20881	2.04	4.49	-0.215	0.13157	.	4.036170	0.01265	N	0.009294	T	0.08358	0.0208	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22906	-1.0203	9	0.06099	T	0.92	-7.1679	3.6424	0.08172	0.4314:0.0:0.2423:0.3264	.	143	P61289-2	.	V	143	ENSP00000293362:I143V	ENSP00000293362:I143V	I	+	1	0	PSME3	38244256	0.000000	0.05858	0.001000	0.08648	0.364000	0.29643	-0.509000	0.06336	0.035000	0.15519	0.533000	0.62120	ATA	PSME3	-	pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28	ENSG00000131467		0.463	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME3	HGNC	protein_coding	OTTHUMT00000452430.1	-	0	43	0	A	NM_176863		40990730	1	tier1	-	no_errors	ENST00000293362	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	G	G	40990730	A	G	40990730	1	3	31	0	1	0	0	0	0	0	0	0	12750	449	16	4		4	PSME3	17	40990730	Intron	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	12284047	40990730	40204480	191	7546											
ABCA6	23460	genome.wustl.edu	37	chr17	67109433	67109433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatctgctctacgctctctCaggaggctccacacttgatc	7	12	8	14	1	4	2	1	2	3	0	7	3	5	3	1	2	2	3	1	2	1	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:67109433C>T	ENST00000284425.2	-	15	2145	c.1971G>A	c.(1969-1971)ctG>ctA	p.L657L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	657	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TACGCTCTCTCAGGAGGCTCC	0.418																																																	0													88	81	84					17																	67109433		2203	4300	6503	SO:0001819	synonymous_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1971G>A	17.37:g.67109433C>T			Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L657	ENST00000284425.2	37	c.1971	CCDS11683.1	17																																																																																			ABCA6	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.418	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0	86	0	C	NM_080284		67109433	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	silent	73.97	19	54	SNP	1.000	T	T	67109433	C	T	67109433	2	4	31	1	0	0	0	0	0	0	0	1	36	813	29	3		3	ABCA6	17	67109433	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	26118703	67109433	14085777	192	7547											
FAM104A	84923	genome.wustl.edu	37	chr17	71205859	71205861	+	In_Frame_Del	DEL	TGC	TGC	-																															ggccctgtccgggctattgaTgctgctgctgctgctgctgc																								rs141426163	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:71205859_71205861delTGC	ENST00000403627.3	-	3	428_430	c.368_370delGCA	c.(367-372)agcatc>atc	p.S123del	FAM104A_ENST00000581110.1_In_Frame_Del_p.A90del|FAM104A_ENST00000583024.1_In_Frame_Del_p.A96del|FAM104A_ENST00000405159.3_In_Frame_Del_p.S144del|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000580032.1_In_Frame_Del_p.S33del	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	123	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGGCTATTGAtgctgctgctgct	0.596																																																	0																																										SO:0001651	inframe_deletion	0			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.368_370delGCA	17.37:g.71205868_71205870delTGC	ENSP00000384648:p.Ser123del		B4E339	In_Frame_Del	DEL	NULL	p.S144in_frame_del	ENST00000403627.3	37	c.433_431	CCDS11693.2	17																																																																																			FAM104A	-	NULL	ENSG00000133193		0.596	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM104A	HGNC	protein_coding	OTTHUMT00000318935.1		0	40	0	TGC	NM_032837		71205861	-1	tier1		no_errors	ENST00000405159	ensembl	human	known	74_37	in_frame_del	6.06	31	2	DEL	1.000:1.000:1.000	-	-	71205861	TGC	-	71205859	7	5	31	1	0	1	0	1	0	0	0	0	5404	1464	51	0	194	0	FAM104A	17	71205859	In_Frame_Del	DEL	TGC	TCGA-IG-A8O2-01A-11D-A36J-09	4096426	71205859	9989351	193	7548											
EXOC7	23265	genome.wustl.edu	37	chr17	74097765	74097765	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcactcactcacccctcTctgatgatcttctcagtgtc	6	13	5	17	0	6	2	4	2	3	0	9	2	6	2	3	0	0	0	3	0	0	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:74097765T>G	ENST00000335146.7	-	3	359	c.306A>C	c.(304-306)agA>agC	p.R102S	EXOC7_ENST00000332065.5_Missense_Mutation_p.R102S|EXOC7_ENST00000467929.2_Missense_Mutation_p.R61S|EXOC7_ENST00000405575.4_Missense_Mutation_p.R102S|EXOC7_ENST00000607838.1_Missense_Mutation_p.R102S|EXOC7_ENST00000411744.2_Missense_Mutation_p.R102S|EXOC7_ENST00000589210.1_Missense_Mutation_p.R102S|EXOC7_ENST00000406660.3_Missense_Mutation_p.R102S			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	102					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTCACCCCTCTCTGATGATCT	0.547																																																	0													128	108	114					17																	74097765		2203	4300	6503	SO:0001583	missense	0			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.306A>C	17.37:g.74097765T>G	ENSP00000334100:p.Arg102Ser		B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	pfam_Exo70,superfamily_Cullin_repeat-like_dom	p.R102S	ENST00000335146.7	37	c.306	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219882	0.58560	.	.	ENSG00000182473	ENST00000332065;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000442951;ENST00000406660	.	.	.	5.91	2.84	0.33178	Cullin repeat-like-containing domain (1);	0.147132	0.64402	D	0.000017	T	0.45637	0.1352	L	0.49126	1.545	0.52501	D	0.999955	B;B;B;B;P;P;B;B;B	0.47604	0.037;0.067;0.131;0.122;0.666;0.898;0.04;0.348;0.067	B;B;B;B;B;P;B;B;B	0.45712	0.113;0.093;0.058;0.088;0.167;0.491;0.035;0.22;0.077	T	0.26467	-1.0102	9	0.16896	T	0.51	-22.454	8.457	0.32906	0.0:0.6967:0.0:0.3033	.	102;102;61;61;102;102;102;102;102	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;B5MCY9;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;.;EXOC7_HUMAN;.;.	S	102;102;102;102;61;102;102;49;102	.	ENSP00000333806:R102S	R	-	3	2	EXOC7	71609360	0.997000	0.39634	1.000000	0.80357	0.950000	0.60333	0.484000	0.22308	0.372000	0.24591	-0.242000	0.12053	AGA	EXOC7	-	superfamily_Cullin_repeat-like_dom	ENSG00000182473		0.547	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	HGNC	protein_coding	OTTHUMT00000319768.2	-	0	53	0	T	NM_015219		74097765	-1	tier1	-	no_errors	ENST00000335146	ensembl	human	known	74_37	missense	25.00	48	16	SNP	1.000	G	G	74097765	T	G	74097765	3	3	31	1	0	0	0	0	1	0	0	0	5326	1548	54	4	1973	4	EXOC7	17	74097765	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	2891906	74097765	7097445	194	7549											
SLC16A3	9123	genome.wustl.edu	37	chr17	80193919	80193919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggacgagggccccacagGcgtcaaggcccctgacggcg	7	3	17	14	4	1	1	1	1	0	0	1	3	1	2	4	6	0	0	4	6	1	0			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:80193919G>T	ENST00000581287.1	+	1	2357	c.35G>T	c.(34-36)gGc>gTc	p.G12V	SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392341.1_Missense_Mutation_p.G12V|SLC16A3_ENST00000582743.1_Missense_Mutation_p.G12V|SLC16A3_ENST00000392339.1_Missense_Mutation_p.G12V	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	12					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	GGCCCCACAGGCGTCAAGGCC	0.667																																					Pancreas(52;652 1135 19190 37282 52456)												0													44	39	40					17																	80193919		2201	4297	6498	SO:0001583	missense	0			U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"Solute carriers"	10924	protein-coding gene	gene with protein product		603877	"solute carrier family 16 (monocarboxylic acid transporters), member 3", "solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.35G>T	17.37:g.80193919G>T	ENSP00000463978:p.Gly12Val		B3KXG8|Q2M1P8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.G12V	ENST00000581287.1	37	c.35	CCDS11804.1	17	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840479	0.32513	.	.	ENSG00000141526	ENST00000392341;ENST00000392339	T;T	0.58210	0.35;0.35	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.49098	0.1537	L	0.45698	1.435	0.80722	D	1	B;P	0.49307	0.248;0.922	B;B	0.42625	0.103;0.393	T	0.44787	-0.9305	10	0.25751	T	0.34	.	17.7274	0.88369	0.0:0.0:1.0:0.0	.	12;12	Q53G91;O15427	.;MOT4_HUMAN	V	12	ENSP00000376152:G12V;ENSP00000376150:G12V	ENSP00000376150:G12V	G	+	2	0	SLC16A3	77787208	1.000000	0.71417	0.204000	0.23530	0.127000	0.20565	6.519000	0.73768	2.416000	0.81992	0.563000	0.77884	GGC	SLC16A3	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Monocarb_transpt	ENSG00000141526		0.667	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A3	HGNC	protein_coding	OTTHUMT00000443498.1		0	80	0	G	NM_004207		80193919	1			no_errors	ENST00000392339	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.999	T	T	80193919	G	T	80193919	3	4	31	1	0	0	0	0	1	0	0	0	14454	1203	42	3	37	3	SLC16A3	17	80193919	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	6096154	80193919	1001291	195	7550											
ZNF750	79755	genome.wustl.edu	37	chr17	80790167	80790167	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgatcctgctctgatactAaagtaatcgagtttttacaa	12	14	6	9	2	1	1	0	1	1	0	4	3	2	1	1	0	3	3	1	0	6	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr17:80790167A>C	ENST00000269394.3	-	2	997	c.164T>G	c.(163-165)tTa>tGa	p.L55*	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	55					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTCTGATACTAAAGTAATCGA	0.438																																																	0													119	108	111					17																	80790167		2203	4300	6503	SO:0001587	stop_gained	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.164T>G	17.37:g.80790167A>C	ENSP00000269394:p.Leu55*		Q9H899	Nonsense_Mutation	SNP	NULL	p.L55*	ENST00000269394.3	37	c.164	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	A	40	8.312349	0.98754	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.59	5.59	0.84812	.	0.139418	0.28533	N	0.015014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.0451	14.9439	0.71014	1.0:0.0:0.0:0.0	.	.	.	.	X	55	.	.	L	-	2	0	ZNF750	78383456	0.986000	0.35501	0.008000	0.14137	0.219000	0.24729	9.160000	0.94734	2.120000	0.65058	0.533000	0.62120	TTA	ZNF750	-	NULL	ENSG00000141579		0.438	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	0	63	0	A	NM_024702		80790167	-1	tier1	-	no_errors	ENST00000269394	ensembl	human	known	74_37	nonsense	72.00	21	54	SNP	0.159	C	C	80790167	A	C	80790167	4	2	31	1	0	0	0	0	0	1	0	0	18180	372	13	4	2015	4	ZNF750	17	80790167	Nonsense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	596248	80790167	405043	196	7551											
MEP1B	4225	genome.wustl.edu	37	chr18	29784155	29784155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtaagctgctggtctTcagtaggaaataggcgggtt	8	12	13	8	1	2	0	1	0	1	0	3	1	3	1	1	4	2	5	1	4	4	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr18:29784155T>C	ENST00000269202.6	+	7	426	c.379T>C	c.(379-381)Tca>Cca	p.S127P	MEP1B_ENST00000581447.1_Missense_Mutation_p.S127P	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	127	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCTGGTCTTCAGTAGGAAA	0.493																																																	0													72	77	75					18																	29784155		2070	4227	6297	SO:0001583	missense	0			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.379T>C	18.37:g.29784155T>C	ENSP00000269202:p.Ser127Pro		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.S127P	ENST00000269202.6	37	c.379	CCDS45846.1	18	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175345	0.38413	.	.	ENSG00000141434	ENST00000269202	T	0.63580	-0.05	5.93	4.74	0.60224	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.556751	0.20145	N	0.098286	T	0.72228	0.3434	L	0.59912	1.85	0.34940	D	0.750268	D	0.54601	0.967	D	0.63192	0.912	T	0.76945	-0.2771	10	0.35671	T	0.21	-0.5881	12.3136	0.54942	0.1269:0.0:0.0:0.8731	.	127	Q16820	MEP1B_HUMAN	P	127	ENSP00000269202:S127P	ENSP00000269202:S127P	S	+	1	0	MEP1B	28038153	0.981000	0.34729	0.762000	0.31397	0.657000	0.38888	4.966000	0.63715	1.010000	0.39314	0.533000	0.62120	TCA	MEP1B	-	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo	ENSG00000141434		0.493	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	-	0	126	0	T	NM_005925		29784155	1	tier1	-	no_errors	ENST00000269202	ensembl	human	known	74_37	missense	18.70	99	23	SNP	0.924	C	C	29784155	T	C	29784155	3	2	31	1	0	0	0	0	1	0	0	0	9514	1783	62	4	405	4	MEP1B	18	29784155	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09		29784155	48293093	197	7552											
MYO5B	4645	genome.wustl.edu	37	chr18	47406771	47406771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggatttggttgttgaGctgttctttctcatctttca	6	18	9	8	0	4	1	2	1	3	0	5	2	4	2	0	2	1	5	0	2	0	6			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr18:47406771G>T	ENST00000285039.7	-	23	3399	c.3100C>A	c.(3100-3102)Ctc>Atc	p.L1034I	MYO5B_ENST00000324581.6_Missense_Mutation_p.L175I	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1034					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGTTGTTGAGCTGTTCTTTC	0.428																																																	0													237	244	242					18																	47406771		1861	4091	5952	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3100C>A	18.37:g.47406771G>T	ENSP00000285039:p.Leu1034Ile		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1034I	ENST00000285039.7	37	c.3100	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364345	0.61513	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.27256	1.68;1.68	5.39	5.39	0.77823	.	0.063358	0.64402	D	0.000004	T	0.30293	0.0760	L	0.47716	1.5	0.47341	D	0.999399	B;D	0.54397	0.212;0.966	B;P	0.45167	0.062;0.472	T	0.01935	-1.1244	10	0.44086	T	0.13	.	18.3012	0.90164	0.0:0.0:1.0:0.0	.	1034;175	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	I	1034;175	ENSP00000285039:L1034I;ENSP00000315531:L175I	ENSP00000285039:L1034I	L	-	1	0	MYO5B	45660769	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.039000	0.57325	2.684000	0.91462	0.650000	0.86243	CTC	MYO5B	-	NULL	ENSG00000167306		0.428	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	-	0	76	0	G			47406771	-1	tier1	-	no_errors	ENST00000285039	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	47406771	G	T	47406771	3	4	31	1	0	0	0	0	1	0	0	0	10117	971	34	3	2518	3	MYO5B	18	47406771	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	17622616	47406771	30670477	198	7553											
SOCS6	9306	genome.wustl.edu	37	chr18	67992415	67992415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccagccctgaatggcGtccggaaggatttccacgac	9	7	12	13	4	0	1	0	1	0	0	3	5	3	3	4	3	1	0	4	3	2	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr18:67992415G>A	ENST00000397942.3	+	2	827	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	SOCS6_ENST00000582322.1_Missense_Mutation_p.V171I	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	171					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.V171I(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCTGAATGGCGTCCGGAAGGA	0.567																																					Melanoma(84;1024 1361 24382 36583 42651)												1	Substitution - Missense(1)	large_intestine(1)											62	54	57					18																	67992415		2203	4300	6503	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.511G>A	18.37:g.67992415G>A	ENSP00000381034:p.Val171Ile		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.V171I	ENST00000397942.3	37	c.511	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	G	8.963	0.971131	0.18659	.	.	ENSG00000170677	ENST00000397942	T	0.28895	1.59	5.12	5.12	0.69794	.	0.220919	0.36893	N	0.002352	T	0.24509	0.0594	L	0.34521	1.04	0.51012	D	0.999901	B	0.31968	0.349	B	0.17722	0.019	T	0.03175	-1.1064	10	0.38643	T	0.18	-11.8366	18.5771	0.91159	0.0:0.0:1.0:0.0	.	171	O14544	SOCS6_HUMAN	I	171	ENSP00000381034:V171I	ENSP00000381034:V171I	V	+	1	0	SOCS6	66143395	1.000000	0.71417	0.041000	0.18516	0.005000	0.04900	4.990000	0.63876	2.371000	0.80710	0.561000	0.74099	GTC	SOCS6	-	NULL	ENSG00000170677		0.567	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	-	0	38	0	G			67992415	1	tier1	-	no_errors	ENST00000397942	ensembl	human	known	74_37	missense	46.55	31	27	SNP	0.993	A	A	67992415	G	A	67992415	3	1	31	1	0	0	0	0	1	0	0	0	14963	1145	40	1	513	1	SOCS6	18	67992415	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	20585644	67992415	10084833	199	7554											
FBXO15	201456	genome.wustl.edu	37	chr18	71797743	71797743	+	Frame_Shift_Del	DEL	T	T	-																															gcttttacagatgctatttgTtttgtgatatattctttctt																										TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr18:71797743delT	ENST00000419743.2	-	4	562	c.483delA	c.(481-483)aaafs	p.K161fs	FBXO15_ENST00000269500.5_Frame_Shift_Del_p.K85fs	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	161						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATGCTATTTGTTTTGTGATAT	0.403																																																	0													149	147	148					18																	71797743		2203	4300	6503	SO:0001589	frameshift_variant	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.483delA	18.37:g.71797743delT	ENSP00000393154:p.Lys161fs		B3KST3	Frame_Shift_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.K161fs	ENST00000419743.2	37	c.483	CCDS45884.1	18																																																																																			FBXO15	-	superfamily_F-box_dom	ENSG00000141665		0.403	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1		0	70	0	T	NM_152676		71797743	-1	tier1		no_errors	ENST00000419743	ensembl	human	known	74_37	frame_shift_del	12.90	54	8	DEL	0.022	-	-	71797743	T	-	71797743	7	5	31	1	0	1	0	1	0	0	0	0	5750	1722	60	0	1077	0	FBXO15	18	71797743	Frame_Shift_Del	DEL	T	TCGA-IG-A8O2-01A-11D-A36J-09	3805328	71797743	6279505	200	7555											
ZNF236	7776	genome.wustl.edu	37	chr18	74583664	74583664	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttattacactagggtatcaAgtacaaggtcttataaccgg	13	13	8	7	1	2	0	1	0	1	0	2	0	2	0	1	3	3	2	1	3	9	8			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr18:74583664A>T	ENST00000253159.8	+	5	742	c.544A>T	c.(544-546)Agt>Tgt	p.S182C	ZNF236_ENST00000583095.1_Intron|ZNF236_ENST00000320610.9_Missense_Mutation_p.S184C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	182					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TAGGGTATCAAGTACAAGGTC	0.413																																																	0													138	121	126					18																	74583664		1891	4112	6003	SO:0001583	missense	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.544A>T	18.37:g.74583664A>T	ENSP00000253159:p.Ser182Cys		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S182C	ENST00000253159.8	37	c.544	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521196	0.44866	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.12465	2.68;2.81	4.64	-5.33	0.02713	.	0.515810	0.21843	N	0.068286	T	0.08044	0.0201	N	0.19112	0.55	0.20703	N	0.999861	B;P	0.51791	0.049;0.948	B;B	0.43155	0.023;0.41	T	0.18178	-1.0345	10	0.66056	D	0.02	.	11.9588	0.52997	0.473:0.0:0.527:0.0	.	182;182	Q9NWI2;Q9UL36	.;ZN236_HUMAN	C	182	ENSP00000253159:S182C;ENSP00000444524:S182C	ENSP00000253159:S182C	S	+	1	0	ZNF236	72712652	0.989000	0.36119	0.073000	0.20177	0.633000	0.38033	2.690000	0.47001	-1.218000	0.02601	-0.376000	0.06991	AGT	ZNF236	-	NULL	ENSG00000130856		0.413	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	-	0	105	0	A			74583664	1	tier1	-	no_errors	ENST00000253159	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.962	T	T	74583664	A	T	74583664	3	4	31	1	0	0	0	0	1	0	0	0	17837	72	3	5	562	5	ZNF236	18	74583664	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	2785921	74583664	3493584	201	7556											
SGTA	6449	genome.wustl.edu	37	chr19	2762546	2762546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcagctccgctatcttgagGttggacttgtatgtctcgtt	5	17	10	9	2	3	1	1	1	2	0	5	2	4	2	1	2	1	5	1	2	2	7			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:2762546G>A	ENST00000221566.2	-	7	755	c.594C>T	c.(592-594)aaC>aaT	p.N198N		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	198					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTATCTTGAGGTTGGACTTGT	0.642																																																	0													122	115	117					19																	2762546		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.594C>T	19.37:g.2762546G>A			D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N198	ENST00000221566.2	37	c.594	CCDS12094.1	19																																																																																			SGTA	-	NULL	ENSG00000104969		0.642	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	-	0	23	0	G	NM_003021		2762546	-1	tier1	-	no_errors	ENST00000221566	ensembl	human	known	74_37	silent	32.00	17	8	SNP	1.000	A	A	2762546	G	A	2762546	2	1	31	1	0	0	0	0	0	0	0	1	14270	1252	44	3		3	SGTA	19	2762546	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		2762546	56366437	202	7557											
ZNF557	79230	genome.wustl.edu	37	chr19	7083472	7083472	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtcgaatctgacacAgcacataagaactcatactg	15	7	10	9	1	2	2	1	1	1	1	3	5	2	3	0	2	3	1	0	2	4	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:7083472A>T	ENST00000439035.2	+	8	1229	c.989A>T	c.(988-990)cAg>cTg	p.Q330L	ZNF557_ENST00000414706.1_Missense_Mutation_p.Q337L|ZNF557_ENST00000252840.6_Missense_Mutation_p.Q337L			Q8N988	ZN557_HUMAN	zinc finger protein 557	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AATCTGACACAGCACATAAGA	0.428																																																	0													97	106	103					19																	7083472		2186	4287	6473	SO:0001583	missense	0			AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"Zinc fingers, C2H2-type", "-"	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.989A>T	19.37:g.7083472A>T	ENSP00000398965:p.Gln330Leu		Q6PEJ3|Q9BTZ1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q337L	ENST00000439035.2	37	c.1010	CCDS45945.1	19	.	.	.	.	.	.	.	.	.	.	A	0.049	-1.255311	0.01457	.	.	ENSG00000130544	ENST00000252840;ENST00000414706;ENST00000439035	T;T;T	0.07688	3.17;3.17;3.17	1.32	0.0813	0.14424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04679	0.0127	N	0.21324	0.655	0.09310	N	1	B;B	0.17465	0.022;0.018	B;B	0.17979	0.02;0.012	T	0.44205	-0.9343	9	0.27082	T	0.32	.	2.1241	0.03734	0.407:0.2977:0.0:0.2953	.	330;337	Q8N988;Q8N988-2	ZN557_HUMAN;.	L	337;337;330	ENSP00000252840:Q337L;ENSP00000404065:Q337L;ENSP00000398965:Q330L	ENSP00000252840:Q337L	Q	+	2	0	ZNF557	7034472	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-2.409000	0.01041	-0.020000	0.14032	0.260000	0.18958	CAG	ZNF557	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130544		0.428	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF557	HGNC	protein_coding	OTTHUMT00000458502.1	-	0	90	0	A	NM_024341		7083472	1	tier1	-	no_errors	ENST00000252840	ensembl	human	known	74_37	missense	20.22	71	18	SNP	0.000	T	T	7083472	A	T	7083472	3	4	31	1	0	0	0	0	1	0	0	0	18036	188	7	5	1032	5	ZNF557	19	7083472	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	4320926	7083472	52045511	203	7558											
PRAM1	4670	genome.wustl.edu	37	chr19	8555253	8555253	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcatcgtacacctccgtCtccctggcagagcacagttg	9	9	8	15	2	2	1	1	0	1	1	5	1	3	1	3	1	2	4	3	1	1	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:8555253C>T	ENST00000325495.4	+	0	2494				PRAM1_ENST00000423345.4_Silent_p.E648E|PRAM1_ENST00000255612.3_Silent_p.E647E	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ACACCTCCGTCTCCCTGGCAG	0.672																																																	0													61	66	64					19																	8555253		2165	4259	6424	SO:0001628	intergenic_variant	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555253C>T			Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	superfamily_SH3_domain	p.E648	ENST00000325495.4	37	c.1944	CCDS12203.1	19																																																																																			PRAM1	-	NULL	ENSG00000133246		0.672	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000460894.1	-	0	64	0	C			8555253	-1	tier1	-	no_errors	ENST00000423345	ensembl	human	known	74_37	silent	31.91	32	15	SNP	1.000	T	T	8555253	C	T	8555253	1	4	31	0	1	0	0	0	0	0	0	0	12465	912	32	3		3	PRAM1	19	8555253	IGR	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1471781	8555253	50573730	204	7559											
NDUFB7	4713	genome.wustl.edu	37	chr19	14682780	14682780	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggctccaccgaggcatcGcccaggtagcgccggaccag	7	4	14	16	5	0	0	0	0	0	0	3	2	1	1	5	4	1	3	5	4	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:14682780G>T	ENST00000215565.2	-	1	94	c.33C>A	c.(31-33)ggC>ggA	p.G11G		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	11					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CCGAGGCATCGCCCAGGTAGC	0.697																																																	0													22	23	22					19																	14682780		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.33C>A	19.37:g.14682780G>T			Q6ICN9|Q9UI16	Silent	SNP	pfam_NADH_UbQ_OxRdtase_B18_su	p.G11	ENST00000215565.2	37	c.33	CCDS12314.1	19																																																																																			NDUFB7	-	NULL	ENSG00000099795		0.697	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB7	HGNC	protein_coding	OTTHUMT00000466025.1	-	0	27	0	G	NM_004146		14682780	-1	tier1	-	no_errors	ENST00000215565	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.010	T	T	14682780	G	T	14682780	2	4	31	1	0	0	0	0	0	0	0	1	10325	1074	38	2		2	NDUFB7	19	14682780	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	6127527	14682780	44446203	205	7560											
GATAD2A	54815	genome.wustl.edu	37	chr19	19605162	19605162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttgttcggggcactcaGaacattcctgctggcaagcc	7	9	11	14	2	1	1	1	0	0	1	3	1	2	1	3	3	3	5	3	3	2	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:19605162G>T	ENST00000360315.3	+	5	906	c.594G>T	c.(592-594)caG>caT	p.Q198H	GATAD2A_ENST00000252577.5_Missense_Mutation_p.Q198H|GATAD2A_ENST00000429563.2_Intron|GATAD2A_ENST00000358713.3_Missense_Mutation_p.Q198H|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000404158.1_Missense_Mutation_p.Q198H	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	198					anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GGGGCACTCAGAACATTCCTG	0.637																																																	0													101	77	85					19																	19605162		2203	4300	6503	SO:0001583	missense	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"GATA zinc finger domain containing"	29989	protein-coding gene	gene with protein product	"p66 alpha"	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.594G>T	19.37:g.19605162G>T	ENSP00000353463:p.Gln198His		B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	Missense_Mutation	SNP	pfam_Znf_GATA,pfscan_Znf_GATA	p.Q198H	ENST00000360315.3	37	c.594	CCDS12402.2	19	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316344	0.60524	.	.	ENSG00000167491	ENST00000360315;ENST00000252577;ENST00000404158;ENST00000358713	T;T;T	0.34275	1.42;1.37;1.42	5.08	1.51	0.23008	.	0.251319	0.35495	N	0.003163	T	0.36358	0.0964	N	0.24115	0.695	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.62014	0.897;0.897	T	0.12116	-1.0560	10	0.56958	D	0.05	-10.9977	7.3036	0.26434	0.3632:0.0:0.6368:0.0	.	217;198	B5MC40;Q86YP4	.;P66A_HUMAN	H	198;198;217;198	ENSP00000353463:Q198H;ENSP00000252577:Q198H;ENSP00000351552:Q198H	ENSP00000252577:Q198H	Q	+	3	2	GATAD2A	19466162	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.047000	0.49854	0.556000	0.29098	-0.291000	0.09656	CAG	GATAD2A	-	NULL	ENSG00000167491		0.637	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATAD2A	HGNC	protein_coding	OTTHUMT00000326671.4	-	0	42	0	G	NM_017660		19605162	1	tier1	-	no_errors	ENST00000358713	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	19605162	G	T	19605162	3	4	31	1	0	0	0	0	1	0	0	0	6285	933	33	3	608	3	GATAD2A	19	19605162	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	4922382	19605162	39523821	206	7561											
ZNF257	113835	genome.wustl.edu	37	chr19	22272088	22272088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagataattcatactggagaGaaaccctacaaatgtgaaga	19	8	8	6	0	1	4	1	1	0	3	1	6	1	5	1	1	3	0	1	1	7	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:22272088G>A	ENST00000594947.1	+	4	1680	c.1536G>A	c.(1534-1536)gaG>gaA	p.E512E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATACTGGAGAGAAACCCTACA	0.398																																																	0													38	42	41					19																	22272088		2116	4251	6367	SO:0001819	synonymous_variant	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1536G>A	19.37:g.22272088G>A			B3KPS4|E9PG34|Q8NE34	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E512	ENST00000594947.1	37	c.1536	CCDS46030.1	19																																																																																			ZNF257	-	pfscan_Znf_C2H2	ENSG00000197134		0.398	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	84	0	G			22272088	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	silent	14.29	108	18	SNP	1.000	A	A	22272088	G	A	22272088	2	1	31	1	0	0	0	0	0	0	0	1	17848	933	33	3		3	ZNF257	19	22272088	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	2666926	22272088	36856895	207	7562											
GPI	2821	genome.wustl.edu	37	chr19	34855878	34855878	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgggctctgcccaccctcCccactgccacttccgggcag	4	6	9	22	2	1	0	0	0	1	0	3	0	3	0	7	2	2	2	7	2	0	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:34855878C>T	ENST00000356487.5	+	0	0				GPI_ENST00000586425.1_5'Flank|GPI_ENST00000415930.3_Missense_Mutation_p.P22S	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase						aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					gcccaccctcccCACTGCCAC	0.672																																																	0																																										SO:0001631	upstream_gene_variant	0			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744			19.37:g.34855878C>T	Exception_encountered		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.P22S	ENST00000356487.5	37	c.64	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	C	7.168	0.586977	0.13749	.	.	ENSG00000105220	ENST00000415930	D	0.92805	-3.11	1.77	-3.54	0.04653	.	.	.	.	.	T	0.77552	0.4147	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.64228	-0.6457	8	0.07175	T	0.84	.	4.8224	0.13398	0.0:0.4024:0.1944:0.4032	.	22	B4DG39	.	S	22	ENSP00000405573:P22S	ENSP00000405573:P22S	P	+	1	0	GPI	39547718	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.579000	0.05834	-1.889000	0.01112	-1.598000	0.00824	CCC	GPI	-	NULL	ENSG00000105220		0.672	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	-	0	36	0	C			34855878	1	tier1	-	no_errors	ENST00000415930	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.000	T	T	34855878	C	T	34855878	1	4	31	0	1	0	0	0	0	0	0	0	6637	623	22	3		3	GPI	19	34855878	5'Flank	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	12583790	34855878	24273105	208	7563											
OPA3	7408	genome.wustl.edu	37	chr19	46032328	46032328	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctcctatttctcggacgCcggcgcaactgggggtgcag	6	8	14	13	4	1	0	0	0	1	0	3	2	2	1	3	4	2	2	3	4	2	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:46032328C>T	ENST00000245932.6	+	0	2305				OPA3_ENST00000323060.3_Missense_Mutation_p.A177T	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		TTCTCGGACGCCGGCGCAACT	0.667																																																	0													31	37	35					19																	46032328		2015	3982	5997	SO:0001628	intergenic_variant	0				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552			19.37:g.46032328C>T			B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	pfam_OPA3-like	p.A177T	ENST00000245932.6	37	c.529	CCDS33051.1	19	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975737	0.34848	.	.	ENSG00000125741	ENST00000323060	D	0.85339	-1.97	3.37	-2.34	0.06704	.	.	.	.	.	T	0.59348	0.2187	.	.	.	0.19300	N	0.999978	B	0.06786	0.001	B	0.04013	0.001	T	0.53479	-0.8433	8	0.02654	T	1	-13.425	3.9781	0.09483	0.0:0.4721:0.1879:0.3401	.	177	Q9H6K4-2	.	T	177	ENSP00000319817:A177T	ENSP00000319817:A177T	A	-	1	0	OPA3	50724168	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.776000	0.00776	-0.115000	0.11915	0.549000	0.68633	GCG	OPA3	-	NULL	ENSG00000125741		0.667	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459589.1	-	0	18	0	C			46032328	-1	tier1	-	no_errors	ENST00000323060	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.000	T	T	46032328	C	T	46032328	1	4	31	0	1	0	0	0	0	0	0	0	10911	739	26	3		3	OPA3	19	46032328	IGR	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	11176450	46032328	13096655	209	7564											
KLK9	284366	genome.wustl.edu	37	chr19	51506391	51506391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttctccatgatttcttggatCcagtcaaggtagtggcatac	9	14	9	9	0	3	1	1	1	2	0	5	2	4	2	2	3	1	2	2	3	3	5			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr19:51506391C>G	ENST00000594211.1	-	5	729	c.729G>C	c.(727-729)tgG>tgC	p.W243C	KLK9_ENST00000376832.4_Missense_Mutation_p.W243C|KLK8_ENST00000391806.2_5'Flank|KLK8_ENST00000593490.1_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000600767.1_5'Flank|KLK9_ENST00000250366.6_Missense_Mutation_p.W243C|KLK8_ENST00000320838.5_5'Flank|KLK8_ENST00000347619.4_5'Flank|KLK8_ENST00000291726.7_5'Flank			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	243	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TTTCTTGGATCCAGTCAAGGT	0.642																																																	0													113	119	117					19																	51506391		2203	4300	6503	SO:0001583	missense	0			AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"Kallikreins"	6370	protein-coding gene	gene with protein product		605504	"kallikrein 9"			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.729G>C	19.37:g.51506391C>G	ENSP00000469417:p.Trp243Cys		Q6QA55	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.W243C	ENST00000594211.1	37	c.729	CCDS12816.1	19	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616544	0.46736	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.99121	-5.45;-5.45	4.23	4.23	0.50019	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.99573	0.9846	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97549	1.0091	9	0.87932	D	0	.	14.5296	0.67915	0.0:1.0:0.0:0.0	.	243;243	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	C	243	ENSP00000366028:W243C;ENSP00000250366:W243C	ENSP00000250366:W243C	W	-	3	0	KLK9	56198203	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	5.577000	0.67444	2.358000	0.79984	0.556000	0.70494	TGG	KLK9	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000269741		0.642	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	KLK9	Uniprot_gn	protein_coding	OTTHUMT00000465226.1	-	0	100	0	C	NM_012315		51506391	-1	tier1	-	no_errors	ENST00000250366	ensembl	human	known	74_37	missense	21.95	63	18	SNP	1.000	G	G	51506391	C	G	51506391	3	3	31	1	0	0	0	0	1	0	0	0	8438	856	30	5	27	5	KLK9	19	51506391	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	5474063	51506391	7622592	210	7565											
NKX2-2	4821	genome.wustl.edu	37	chr20	21492752	21492752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgtgacatggtttgccgtCcctgaccaagacgggcacgg	7	7	14	13	5	0	3	0	2	0	1	1	3	1	3	3	3	1	2	3	3	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr20:21492752C>A	ENST00000377142.4	-	2	987	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	211					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTTTGCCGTCCCTGACCAAG	0.672																																																	0													34	37	36					20																	21492752		2203	4300	6503	SO:0001583	missense	0			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.631G>T	20.37:g.21492752C>A	ENSP00000366347:p.Asp211Tyr			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.D211Y	ENST00000377142.4	37	c.631	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744814	0.89663	.	.	ENSG00000125820	ENST00000377142	D	0.92699	-3.09	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.96488	0.8854	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96735	0.9542	10	0.87932	D	0	.	19.4854	0.95027	0.0:1.0:0.0:0.0	.	211	O95096	NKX22_HUMAN	Y	211	ENSP00000366347:D211Y	ENSP00000366347:D211Y	D	-	1	0	NKX2-2	21440752	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.808000	0.86044	2.596000	0.87737	0.462000	0.41574	GAC	NKX2-2	-	NULL	ENSG00000125820		0.672	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	-	0	93	0	C			21492752	-1	tier1	-	no_errors	ENST00000377142	ensembl	human	known	74_37	missense	9.80	92	10	SNP	1.000	A	A	21492752	C	A	21492752	3	1	31	1	0	0	0	0	1	0	0	0	10489	855	30	3	194	3	NKX2-2	20	21492752	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		21492752	41532768	211	7566											
PIGT	51604	genome.wustl.edu	37	chr20	44045206	44045206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggcagctgatctccaaGtattctctacgggagctgca	8	10	12	11	1	2	1	0	1	2	0	4	2	2	2	1	3	4	5	1	3	3	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr20:44045206G>T	ENST00000279036.6	+	2	317	c.237G>T	c.(235-237)aaG>aaT	p.K79N	PIGT_ENST00000341555.5_Intron|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000543458.2_Missense_Mutation_p.K79N|PIGT_ENST00000372689.5_Missense_Mutation_p.K79N|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000535404.1_5'UTR	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	79					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.K79K(2)		breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGATCTCCAAGTATTCTCTAC	0.597																																																	2	Substitution - coding silent(2)	breast(2)											38	38	38					20																	44045206		2203	4300	6503	SO:0001583	missense	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.237G>T	20.37:g.44045206G>T	ENSP00000279036:p.Lys79Asn		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	pfam_PIG-T	p.K79N	ENST00000279036.6	37	c.237	CCDS13353.1	20	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483889	0.84854	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279036	T;T;T	0.46451	0.87;0.87;0.87	5.94	4.99	0.66335	.	0.099543	0.64402	D	0.000003	T	0.56688	0.2002	L	0.60455	1.87	0.80722	D	1	D;P;D	0.69078	0.997;0.792;0.984	D;P;P	0.67231	0.95;0.542;0.855	T	0.54814	-0.8237	10	0.35671	T	0.21	-28.028	12.1106	0.53838	0.1422:0.0:0.8578:0.0	.	79;79;79	B7Z3N1;B7Z7C5;Q969N2	.;.;PIGT_HUMAN	N	79	ENSP00000441577:K79N;ENSP00000361774:K79N;ENSP00000279036:K79N	ENSP00000279036:K79N	K	+	3	2	PIGT	43478620	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.868000	0.56055	1.516000	0.48900	0.557000	0.71058	AAG	PIGT	-	pfam_PIG-T	ENSG00000124155		0.597	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2	-	0	61	0	G	NM_015937		44045206	1	tier1	-	no_errors	ENST00000279036	ensembl	human	known	74_37	missense	18.57	57	13	SNP	1.000	T	T	44045206	G	T	44045206	3	4	31	1	0	0	0	0	1	0	0	0	11938	1020	36	3	243	3	PIGT	20	44045206	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	22552454	44045206	18980314	212	7567											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47649631	47649631	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgacctgatccctgagctCcgagcagttctgcggaagtt	7	12	11	11	2	1	3	0	3	1	0	3	5	3	4	3	1	3	4	3	1	1	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr20:47649631C>T	ENST00000371917.4	+	39	5253	c.5253C>T	c.(5251-5253)ctC>ctT	p.L1751L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1751					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCCCTGAGCTCCGAGCAGTTC	0.453																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													92	77	82					20																	47649631		2203	4300	6503	SO:0001819	synonymous_variant	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.5253C>T	20.37:g.47649631C>T			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.L1751	ENST00000371917.4	37	c.5253	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.453	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	-	0	92	0	C	NM_006420		47649631	1	tier1	-	no_errors	ENST00000371917	ensembl	human	known	74_37	silent	17.36	100	21	SNP	1.000	T	T	47649631	C	T	47649631	2	4	31	1	0	0	0	0	0	0	0	1	853	842	30	3		3	ARFGEF2	20	47649631	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	3604425	47649631	15375889	213	7568											
OPRL1	4987	genome.wustl.edu	37	chr20	62730100	62730100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcgtgcgcagcattgccaAggacgtggccctggcctgca	6	6	14	15	4	0	0	0	0	0	0	0	1	0	1	4	3	4	3	4	3	1	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr20:62730100A>G	ENST00000349451.3	+	6	1473	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	OPRL1_ENST00000336866.2_Missense_Mutation_p.K354R|OPRL1_ENST00000355631.4_Missense_Mutation_p.K354R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	354					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					AGCATTGCCAAGGACGTGGCC	0.642																																																	0													63	56	58					20																	62730100		2201	4298	6499	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.1061A>G	20.37:g.62730100A>G	ENSP00000336764:p.Lys354Arg		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.K354R	ENST00000349451.3	37	c.1061	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	A	2.871	-0.234055	0.05983	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.63744	-0.06;-0.06;-0.06	5.12	-2.6	0.06190	.	0.241349	0.39146	N	0.001455	T	0.27933	0.0688	N	0.03238	-0.38	0.35324	D	0.784993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44314	-0.9336	10	0.02654	T	1	.	10.8518	0.46775	0.5794:0.0:0.4206:0.0	.	349;354	P41146-2;P41146	.;OPRX_HUMAN	R	354	ENSP00000336843:K354R;ENSP00000347848:K354R;ENSP00000336764:K354R	ENSP00000336843:K354R	K	+	2	0	OPRL1	62200544	1.000000	0.71417	0.237000	0.24090	0.675000	0.39556	1.926000	0.40084	-0.905000	0.03871	0.449000	0.29647	AAG	OPRL1	-	prints_X_opioid_rcpt	ENSG00000125510		0.642	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	-	0	45	0	A	NM_182647		62730100	1	tier1	-	no_errors	ENST00000336866	ensembl	human	known	74_37	missense	20.59	26	7	SNP	0.994	G	G	62730100	A	G	62730100	3	3	31	1	0	0	0	0	1	0	0	0	10925	72	3	4	1071	4	OPRL1	20	62730100	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	15080469	62730100	295420	214	7569											
ERG	2078	genome.wustl.edu	37	chr21	39795352	39795352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcacgataactctgCgctcgttcgtggtcatgttt	5	14	11	11	4	2	0	1	0	1	0	4	1	2	0	0	2	3	5	0	2	1	3	rs372598575		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr21:39795352C>T	ENST00000417133.2	-	5	574	c.389G>A	c.(388-390)cGc>cAc	p.R130H	ERG_ENST00000398905.1_Missense_Mutation_p.R123H|ERG_ENST00000398919.2_Missense_Mutation_p.R130H|ERG_ENST00000442448.1_Missense_Mutation_p.R130H|ERG_ENST00000398911.1_Missense_Mutation_p.R130H|ERG_ENST00000288319.7_Missense_Mutation_p.R123H|ERG_ENST00000398897.1_Missense_Mutation_p.R31H|ERG_ENST00000429727.2_Missense_Mutation_p.R123H|ERG_ENST00000453032.2_Missense_Mutation_p.R31H|ERG_ENST00000398907.1_Missense_Mutation_p.R123H|ERG_ENST00000398910.1_Missense_Mutation_p.R130H	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	148	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GATAACTCTGCGCTCGTTCGT	0.607			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	233	151	179		389,92,389,368	5.1	1	21		179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ERG	NM_001136154.1,NM_001136155.1,NM_004449.4,NM_182918.3	29,29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	130/487,31/388,130/463,123/480	39795352	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.389G>A	21.37:g.39795352C>T	ENSP00000414150:p.Arg130His		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R130H	ENST00000417133.2	37	c.389	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.352114	0.95830	0.0	1.16E-4	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919;ENST00000429727	T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.05	5.05	0.67936	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.106537	0.64402	D	0.000013	T	0.56366	0.1980	M	0.65975	2.015	0.58432	D	0.999991	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.83275	0.996;0.987;0.993;0.984;0.981;0.959	T	0.59994	-0.7349	10	0.87932	D	0	.	18.7902	0.91971	0.0:1.0:0.0:0.0	.	123;130;123;130;130;123	B4E3C5;P11308;B5MDW0;P11308-6;P11308-1;P11308-4	.;ERG_HUMAN;.;.;.;.	H	123;123;123;31;130;130;130;130;31;130;123	ENSP00000381877:R123H;ENSP00000381879:R123H;ENSP00000288319:R123H;ENSP00000381871:R31H;ENSP00000381882:R130H;ENSP00000414150:R130H;ENSP00000381881:R130H;ENSP00000394694:R130H;ENSP00000396268:R31H;ENSP00000381891:R130H	ENSP00000288319:R123H	R	-	2	0	ERG	38717222	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.445000	0.80570	2.503000	0.84419	0.561000	0.74099	CGC	ERG	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom	ENSG00000157554		0.607	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2		0	72	0	C	NM_182918		39795352	-1			no_errors	ENST00000398919	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	39795352	C	T	39795352	3	4	31	1	0	0	0	0	1	0	0	0	5238	768	27	1	1103	1	ERG	21	39795352	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		39795352	8334543	215	7570											
COL6A1	1291	genome.wustl.edu	37	chr21	47423920	47423920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctccaggaaggtggcgcTgggctagcccaccctgcacg	7	6	14	14	2	1	0	0	0	1	0	2	1	1	1	3	4	2	3	3	4	2	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr21:47423920T>C	ENST00000361866.3	+	35	3194	c.3080T>C	c.(3079-3081)cTg>cCg	p.L1027P	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	1027	C-terminal globular domain.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AAGGTGGCGCTGGGCTAGCCC	0.612																																																	0													49	52	51					21																	47423920		2202	4299	6501	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.3080T>C	21.37:g.47423920T>C	ENSP00000355180:p.Leu1027Pro		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L1027P	ENST00000361866.3	37	c.3080	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241975	0.39598	.	.	ENSG00000142156	ENST00000361866	D	0.92048	-2.96	4.83	2.28	0.28536	.	0.568629	0.16049	N	0.232043	D	0.85128	0.5626	L	0.29908	0.895	0.43703	D	0.996168	P	0.37955	0.612	B	0.34722	0.188	T	0.79605	-0.1734	10	0.72032	D	0.01	-5.8849	8.6564	0.34066	0.3376:0.0:0.0:0.6624	.	1027	P12109	CO6A1_HUMAN	P	1027	ENSP00000355180:L1027P	ENSP00000355180:L1027P	L	+	2	0	COL6A1	46248348	0.514000	0.26202	0.486000	0.27416	0.518000	0.34316	0.472000	0.22116	0.149000	0.19098	0.486000	0.48141	CTG	COL6A1	-	NULL	ENSG00000142156		0.612	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	89	0	T	NM_001848		47423920	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.325	C	C	47423920	T	C	47423920	3	2	31	1	0	0	0	0	1	0	0	0	3706	1580	55	4	3218	4	COL6A1	21	47423920	Missense_Mutation	SNP	T	TCGA-IG-A8O2-01A-11D-A36J-09	7628568	47423920	705975	216	7571											
PCNT	5116	genome.wustl.edu	37	chr21	47786900	47786900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggaacaactgtggaaaaAggactctcttcaccaaacga	16	7	9	9	1	2	1	1	1	1	0	3	5	2	4	1	3	3	0	1	3	5	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr21:47786900A>G	ENST00000359568.5	+	15	3118	c.3011A>G	c.(3010-3012)aAg>aGg	p.K1004R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1004					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTGTGGAAAAAGGACTCTCTT	0.502																																																	0													120	130	126					21																	47786900		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3011A>G	21.37:g.47786900A>G	ENSP00000352572:p.Lys1004Arg		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.K1004R	ENST00000359568.5	37	c.3011	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779804	0.31502	.	.	ENSG00000160299	ENST00000359568	T	0.26518	1.73	5.15	1.38	0.22167	.	.	.	.	.	T	0.21590	0.0520	M	0.63843	1.955	0.09310	N	1	B;B	0.20459	0.009;0.045	B;B	0.17098	0.017;0.012	T	0.33292	-0.9874	9	0.20046	T	0.44	.	4.6571	0.12622	0.6681:0.1628:0.1691:0.0	.	886;1004	O95613-2;O95613	.;PCNT_HUMAN	R	1004	ENSP00000352572:K1004R	ENSP00000352572:K1004R	K	+	2	0	PCNT	46611328	0.997000	0.39634	0.004000	0.12327	0.004000	0.04260	1.630000	0.37081	0.000000	0.14550	0.454000	0.30748	AAG	PCNT	-	NULL	ENSG00000160299		0.502	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	45	0	A	NM_006031		47786900	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.093	G	G	47786900	A	G	47786900	3	3	31	1	0	0	0	0	1	0	0	0	11629	72	3	4	3069	4	PCNT	21	47786900	Missense_Mutation	SNP	A	TCGA-IG-A8O2-01A-11D-A36J-09	362980	47786900	342995	217	7572											
LZTR1	8216	genome.wustl.edu	37	chr22	21341811	21341811	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcctttaccactgggacCccaccggccccccgttacca	7	6	9	19	2	0	0	0	0	0	0	0	1	0	1	9	3	2	1	9	3	2	3			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr22:21341811C>T	ENST00000215739.8	+	4	698	c.339C>T	c.(337-339)acC>acT	p.T113T	LZTR1_ENST00000389355.3_Silent_p.T94T|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	113					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCACTGGGACCCCACCGGCCC	0.667																																																	0													51	48	49					22																	21341811		2203	4300	6503	SO:0001819	synonymous_variant	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.339C>T	22.37:g.21341811C>T			Q14776|Q20WK0	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.T113	ENST00000215739.8	37	c.339	CCDS33606.1	22																																																																																			LZTR1	-	smart_Kelch_1	ENSG00000099949		0.667	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	58	0	C	NM_006767		21341811	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.968	T	T	21341811	C	T	21341811	2	4	31	1	0	0	0	0	0	0	0	1	9173	610	22	3		3	LZTR1	22	21341811	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09		21341811	29962755	218	7573											
GALR3	8484	genome.wustl.edu	37	chr22	38219537	38219537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggctggtgctggcagtgCtcctgcagcctggcccgagt	4	9	16	12	1	0	0	0	0	0	0	1	1	1	0	3	4	4	5	3	4	0	0	rs144316004		TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr22:38219537C>T	ENST00000249041.2	+	1	149	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	42					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GCTGGCAGTGCTCCTGCAGCC	0.647																																																	0													71	59	63					22																	38219537		2203	4300	6503	SO:0001583	missense	0			AF073799	CCDS13958.1	22q113.1	2012-08-08			ENSG00000128310	ENSG00000128310		"GPCR / Class A : Galanin receptors"	4134	protein-coding gene	gene with protein product		603692				9722565, 9832121	Standard	NM_003614		Approved		uc003aub.1	O60755	OTTHUMG00000150658	ENST00000249041.2:c.124C>T	22.37:g.38219537C>T	ENSP00000249041:p.Leu42Phe		Q53YJ4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt,prints_GPCR_Rhodpsn,prints_Galnin_3_rcpt	p.L42F	ENST00000249041.2	37	c.124	CCDS13958.1	22	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451637	0.84209	.	.	ENSG00000128310	ENST00000249041	T	0.39406	1.08	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.62684	0.2448	M	0.72576	2.205	0.52501	D	0.999959	D	0.89917	1.0	D	0.83275	0.996	T	0.63994	-0.6511	10	0.72032	D	0.01	.	12.9364	0.58316	0.0:0.9267:0.0:0.0733	.	42	O60755	GALR3_HUMAN	F	42	ENSP00000249041:L42F	ENSP00000249041:L42F	L	+	1	0	GALR3	36549483	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	4.805000	0.62561	2.885000	0.99019	0.655000	0.94253	CTC	GALR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000128310		0.647	GALR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR3	HGNC	protein_coding	OTTHUMT00000319452.1		0	52	0	C			38219537	1			no_errors	ENST00000249041	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	38219537	C	T	38219537	3	4	31	1	0	0	0	0	1	0	0	0	6254	797	28	3	126	3	GALR3	22	38219537	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	16877726	38219537	13085029	219	7574											
MGAT3	4248	genome.wustl.edu	37	chr22	39883406	39883406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgtatggccggcctgtgCctcatctccttcctgcactt	3	15	8	15	1	3	0	1	0	2	0	5	0	4	0	5	2	2	2	5	2	1	4			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr22:39883406C>T	ENST00000341184.6	+	2	269	c.54C>T	c.(52-54)tgC>tgT	p.C18C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	18					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGGCCTGTGCCTCATCTCCT	0.557																																																	0													214	206	209					22																	39883406		2203	4300	6503	SO:0001819	synonymous_variant	0			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.54C>T	22.37:g.39883406C>T			A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	pfam_Glyco_trans_17	p.C18	ENST00000341184.6	37	c.54	CCDS13994.2	22																																																																																			MGAT3	-	NULL	ENSG00000128268		0.557	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	-	0	46	0	C	NM_002409		39883406	1	tier1	-	no_errors	ENST00000341184	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	T	T	39883406	C	T	39883406	2	4	31	1	0	0	0	0	0	0	0	1	9582	747	26	3		3	MGAT3	22	39883406	Silent	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	1663869	39883406	11421160	220	7575											
FAM116B	414918	genome.wustl.edu	37	chr22	50752258	50752258	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tataccttgagcagccgtttGagcagcgccttgtcgcggtg	6	11	13	11	4	0	2	0	2	0	0	1	2	0	2	3	1	5	3	3	1	2	5	rs115446109	byFrequency	TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chr22:50752258G>C	ENST00000413817.3	-	14	1259	c.1188C>G	c.(1186-1188)ctC>ctG	p.L396L	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	396					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCAGCCGTTTGAGCAGCGCCT	0.677																																																	0													34	40	38					22																	50752258		2091	4205	6296	SO:0001819	synonymous_variant	0			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1188C>G	22.37:g.50752258G>C			A6X8I5	Silent	SNP	pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom	p.L396	ENST00000413817.3	37	c.1188	CCDS46732.1	22																																																																																			DENND6B	-	pfam_Afi1_N	ENSG00000205593		0.677	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6B	HGNC	protein_coding	OTTHUMT00000316845.3	-	0	81	0	G	NM_001001794		50752258	-1	tier1	-	no_errors	ENST00000413817	ensembl	human	known	74_37	silent	20.00	48	12	SNP	0.999	C	C	50752258	G	C	50752258	2	2	31	1	0	0	0	0	0	0	0	1	5427	1277	45	5		5	FAM116B	22	50752258	Silent	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09	10868852	50752258	552308	221	7576											
TBC1D25	4943	genome.wustl.edu	37	chrX	48417663	48417663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacgtacctgaaccacgagGgccagctctcccgacccgag	10	4	10	17	4	1	1	0	1	1	0	2	4	1	1	5	1	3	2	5	1	2	1			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chrX:48417663G>A	ENST00000376771.4	+	5	975	c.634G>A	c.(634-636)Ggc>Agc	p.G212S	TBC1D25_ENST00000476141.1_3'UTR|snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	212					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAACCACGAGGGCCAGCTCTC	0.587																																																	0													88	66	73					X																	48417663		2203	4300	6503	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"ornithine aminotransferase-like 1"	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.634G>A	X.37:g.48417663G>A	ENSP00000365962:p.Gly212Ser		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.G212S	ENST00000376771.4	37	c.634	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372179	0.82573	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T	0.04454	3.62	5.7	5.7	0.88788	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00235	-1.1892	10	0.87932	D	0	-16.8436	16.0726	0.80946	0.0:0.0:1.0:0.0	.	216;154;212	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	S	212;228	ENSP00000365962:G212S	ENSP00000365962:G212S	G	+	1	0	TBC1D25	48302607	1.000000	0.71417	0.999000	0.59377	0.574000	0.36063	9.037000	0.93765	2.397000	0.81536	0.529000	0.55759	GGC	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000068354		0.587	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	-	0	28	0	G	NM_002536		48417663	1	tier1	-	no_errors	ENST00000376771	ensembl	human	known	74_37	missense	83.33	3	15	SNP	1.000	A	A	48417663	G	A	48417663	3	1	31	1	0	0	0	0	1	0	0	0	15662	1232	43	3	652	3	TBC1D25	23	48417663	Missense_Mutation	SNP	G	TCGA-IG-A8O2-01A-11D-A36J-09		48417663	106852897	222	7577											
ARR3	407	genome.wustl.edu	37	chrX	69497288	69497288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtacaatttgcaccacCggaggcaggccctggcccct	10	6	11	14	1	0	0	0	0	0	0	0	2	0	1	5	4	2	3	5	4	3	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chrX:69497288C>T	ENST00000307959.8	+	9	569	c.518C>T	c.(517-519)cCg>cTg	p.P173L	ARR3_ENST00000374495.3_Missense_Mutation_p.P173L	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	173					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTTGCACCACCGGAGGCAGGC	0.592																																																	0													72	62	65					X																	69497288		2203	4300	6503	SO:0001583	missense	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.518C>T	X.37:g.69497288C>T	ENSP00000311538:p.Pro173Leu		B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.P173L	ENST00000307959.8	37	c.518	CCDS14399.1	X	.	.	.	.	.	.	.	.	.	.	C	3.490	-0.104088	0.06967	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000307959	T;T	0.13901	2.55;2.97	4.37	-3.3	0.05003	.	1.655470	0.02801	N	0.123197	T	0.06371	0.0164	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.31752	-0.9932	10	0.23302	T	0.38	.	4.6341	0.12516	0.2429:0.398:0.0:0.3591	.	173;173	P36575;P36575-2	ARRC_HUMAN;.	L	173	ENSP00000363619:P173L;ENSP00000311538:P173L	ENSP00000311538:P173L	P	+	2	0	ARR3	69414013	0.000000	0.05858	0.006000	0.13384	0.070000	0.16714	-0.642000	0.05427	-0.247000	0.09597	-0.312000	0.09012	CCG	ARR3	-	NULL	ENSG00000120500		0.592	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2	-	0	49	0	C	NM_004312		69497288	1	tier1	-	no_errors	ENST00000307959	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.001	T	T	69497288	C	T	69497288	3	4	31	1	0	0	0	0	1	0	0	0	980	652	23	1	548	1	ARR3	23	69497288	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	21079625	69497288	85773272	223	7578											
ODZ1	10178	genome.wustl.edu	37	chrX	123680763	123680763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaggaatgacatgagtaCtgtccttgccaatgaggaat	13	9	12	7	0	0	3	0	3	0	0	1	6	1	6	2	3	2	1	2	3	4	2			TCGA-IG-A8O2-01A-11D-A36J-09	TCGA-IG-A8O2-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2122239f-6b34-4f6e-a711-e565169172b3	0e29cd53-4d6f-41dc-8e26-f769aa78f35e	g.chrX:123680763C>T	ENST00000371130.3	-	15	2675	c.2612G>A	c.(2611-2613)aGt>aAt	p.S871N	TENM1_ENST00000422452.2_Missense_Mutation_p.S871N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	871					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GACATGAGTACTGTCCTTGCC	0.393																																																	0													129	117	121					X																	123680763		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2612G>A	X.37:g.123680763C>T	ENSP00000360171:p.Ser871Asn		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S871N	ENST00000371130.3	37	c.2612	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908353	0.92107	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89123	-2.47;-2.44	5.21	5.21	0.72293	.	0.104716	0.64402	D	0.000005	D	0.93949	0.8063	M	0.83384	2.64	0.58432	D	0.999999	P;D;D	0.63046	0.915;0.958;0.992	P;P;P	0.58970	0.475;0.475;0.849	D	0.94734	0.7912	10	0.72032	D	0.01	.	17.789	0.88547	0.0:1.0:0.0:0.0	.	870;871;871	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	871	ENSP00000360171:S871N;ENSP00000403954:S871N	ENSP00000360171:S871N	S	-	2	0	ODZ1	123508444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.541000	0.67212	2.389000	0.81357	0.594000	0.82650	AGT	TENM1	-	NULL	ENSG00000009694		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	37	0	C	NM_014253		123680763	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	88.00	3	22	SNP	1.000	T	T	123680763	C	T	123680763	3	4	31	1	0	0	0	0	1	0	0	0	10873	565	20	3	5658	3	ODZ1	23	123680763	Missense_Mutation	SNP	C	TCGA-IG-A8O2-01A-11D-A36J-09	54183475	123680763	31589797	224	7579											
AGRN	375790	genome.wustl.edu	37	chr1	989341	989341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacaccaaccgctggttgCgggtcgtggcacataggtga	9	8	13	11	3	1	1	1	1	0	0	2	1	1	1	2	4	3	3	2	4	3	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:989341C>G	ENST00000379370.2	+	34	5910	c.5860C>G	c.(5860-5862)Cgg>Ggg	p.R1954G	RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1976	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGCTGGTTGCGGGTCGTGGC	0.632																																																	0													38	31	34					1																	989341		2201	4295	6496	SO:0001583	missense	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.5860C>G	1.37:g.989341C>G	ENSP00000368678:p.Arg1954Gly		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.R1954G	ENST00000379370.2	37	c.5860	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967568	0.74131	.	.	ENSG00000188157	ENST00000379370	T	0.76709	-1.04	4.47	4.47	0.54385	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.184941	0.35235	N	0.003343	D	0.87438	0.6177	M	0.83384	2.64	0.54753	D	0.999989	D	0.63046	0.992	P	0.61800	0.894	D	0.89397	0.3693	10	0.56958	D	0.05	-25.3927	16.7343	0.85443	0.0:1.0:0.0:0.0	.	1954	O00468	AGRIN_HUMAN	G	1954	ENSP00000368678:R1954G	ENSP00000368678:R1954G	R	+	1	2	AGRN	979204	1.000000	0.71417	0.999000	0.59377	0.606000	0.37113	5.843000	0.69424	2.042000	0.60477	0.462000	0.41574	CGG	AGRN	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188157		0.632	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	-	0	30	0	C	NM_198576		989341	1	tier1	-	no_errors	ENST00000379370	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	G	G	989341	C	G	989341	3	3	32	1	0	0	0	0	1	0	0	0	397	759	27	5	5994	5	AGRN	1	989341	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		989341	248261280	1	7580											
VPS13D	55187	genome.wustl.edu	37	chr1	12416003	12416003	+	Frame_Shift_Del	DEL	C	C	-																															gtaaagaattgctcattccaCctggaacccaaaactatatg																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:12416003delC	ENST00000358136.3	+	48	9857	c.9727delC	c.(9727-9729)cctfs	p.P3243fs	VPS13D_ENST00000356315.4_Frame_Shift_Del_p.P3218fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTCATTCCACCTGGAACCCA	0.433																																																	0													104	96	99					1																	12416003		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9727delC	1.37:g.12416003delC	ENSP00000350854:p.Pro3243fs			Frame_Shift_Del	DEL	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.P3243fs	ENST00000358136.3	37	c.9727	CCDS30588.1	1																																																																																			VPS13D	-	NULL	ENSG00000048707		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2		0	41	0	C	NM_015378		12416003	1	tier1		no_errors	ENST00000358136	ensembl	human	known	74_37	frame_shift_del	25.00	48	16	DEL	1.000	-	-	12416003	C	-	12416003	7	5	32	1	0	1	0	1	0	0	0	0	17241	507	18	0	9913	0	VPS13D	1	12416003	Frame_Shift_Del	DEL	C	TCGA-IG-A97H-01A-11D-A387-09	11426662	12416003	236834618	2	7581											
EPHA2	1969	genome.wustl.edu	37	chr1	16464460	16464460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtggggctccaggtcGctcactgtcacactggtgcg	5	11	13	12	2	3	0	3	0	0	0	5	0	4	0	1	4	1	2	1	4	0	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:16464460G>A	ENST00000358432.5	-	5	1354	c.1200C>T	c.(1198-1200)agC>agT	p.S400S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	400	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S400S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCTCCAGGTCGCTCACTGTCA	0.637																																																	1	Substitution - coding silent(1)	endometrium(1)											67	63	64					1																	16464460		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1200C>T	1.37:g.16464460G>A			B5A968|Q8N3Z2	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S400	ENST00000358432.5	37	c.1200	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1		0	51	0	G	NM_004431		16464460	-1			no_errors	ENST00000358432	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.862	A	A	16464460	G	A	16464460	2	1	32	1	0	0	0	0	0	0	0	1	5183	1078	38	1		1	EPHA2	1	16464460	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	4048457	16464460	232786161	3	7582											
ATP13A2	23400	genome.wustl.edu	37	chr1	17323611	17323611	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgccgccggtgtgtctCtgcacagtagggccccagcc	4	9	14	14	2	1	0	0	0	1	0	2	0	1	0	5	2	3	2	5	2	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:17323611C>A	ENST00000326735.8	-	12	1132	c.1099G>T	c.(1099-1101)Gag>Tag	p.E367*	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000452699.1_Nonsense_Mutation_p.E362*|ATP13A2_ENST00000341676.5_Nonsense_Mutation_p.E362*|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	367					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CGGTGTGTCTCTGCACAGTAG	0.652																																																	0													76	76	76					1																	17323611		2203	4300	6503	SO:0001587	stop_gained	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1099G>T	1.37:g.17323611C>A	ENSP00000327214:p.Glu367*		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.E367*	ENST00000326735.8	37	c.1099	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.019357	0.97205	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	.	.	.	5.57	4.65	0.58169	.	0.140952	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-28.3915	9.8382	0.40982	0.0:0.8537:0.0:0.1463	.	.	.	.	X	367;362;362;87	.	ENSP00000327214:E367X	E	-	1	0	ATP13A2	17196198	0.777000	0.28628	1.000000	0.80357	0.235000	0.25334	2.118000	0.41949	2.627000	0.88993	0.561000	0.74099	GAG	ATP13A2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000159363		0.652	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1		0	28	0	C	NM_022089		17323611	-1			no_errors	ENST00000326735	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.999	A	A	17323611	C	A	17323611	4	1	32	1	0	0	0	0	0	1	0	0	1125	922	32	3	2751	3	ATP13A2	1	17323611	Nonsense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	859151	17323611	231927010	4	7583											
PADI6	353238	genome.wustl.edu	37	chr1	17707573	17707573	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggggtcccagcggttgggGtgccatcctgcttgtgaatt	4	12	15	10	1	0	1	0	1	0	0	2	1	2	1	3	5	3	2	3	5	1	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:17707573G>A	ENST00000434762.2	+	0	517							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCGGTTGGGGTGCCATCCTG	0.493																																																	0													68	71	70					1																	17707573		1931	4130	6061			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17707573G>A			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.493	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	-	0	57	0	G	NM_207421		17707573	1	tier1	-	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	32.14	38	18	SNP	0.988	A	A	17707573	G	A	17707573	1	1	32	0	1	0	0	0	0	0	0	0	11420	1261	44	3		3	PADI6	1	17707573	RNA	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	383962	17707573	231543048	5	7584											
RCC2	55920	genome.wustl.edu	37	chr1	17743020	17743020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctcgtacaaccacgtttgGtacaggcagaatctgtccat	10	11	9	11	2	2	1	0	0	2	1	4	1	3	1	2	2	3	4	2	2	4	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:17743020G>T	ENST00000375436.4	-	8	1169	c.982C>A	c.(982-984)Cca>Aca	p.P328T	RCC2_ENST00000375433.3_Missense_Mutation_p.P328T|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	328					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ACCACGTTTGGTACAGGCAGA	0.557																																																	0													119	93	102					1																	17743020		2203	4300	6503	SO:0001583	missense	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.982C>A	1.37:g.17743020G>T	ENSP00000364585:p.Pro328Thr		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.P328T	ENST00000375436.4	37	c.982	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313020	0.40895	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.80393	-1.37;-1.37	5.56	5.56	0.83823	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	N	0.16478	0.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80130	-0.1511	10	0.26408	T	0.33	-9.7585	18.4435	0.90676	0.0:0.0:1.0:0.0	.	328	Q9P258	RCC2_HUMAN	T	328	ENSP00000364585:P328T;ENSP00000364582:P328T	ENSP00000364582:P328T	P	-	1	0	RCC2	17615607	1.000000	0.71417	0.956000	0.39512	0.697000	0.40408	7.803000	0.85983	2.778000	0.95560	0.655000	0.94253	CCA	RCC2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000179051		0.557	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	-	0	42	0	G	NM_018715		17743020	-1	tier1	-	no_errors	ENST00000375433	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	17743020	G	T	17743020	3	4	32	1	0	0	0	0	1	0	0	0	13219	1261	44	3	610	3	RCC2	1	17743020	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	35447	17743020	231507601	6	7585											
ZBTB40	9923	genome.wustl.edu	37	chr1	22816927	22816927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctcattcttccccagaGcttgctgccactccaggggg	6	9	11	15	0	2	1	1	0	1	1	4	2	4	1	5	2	4	2	5	2	0	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:22816927G>T	ENST00000375647.4	+	2	693	c.486G>T	c.(484-486)gaG>gaT	p.E162D	ZBTB40_ENST00000404138.1_Missense_Mutation_p.E162D|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E162D	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	162					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTTCCCCAGAGCTTGCTGCCA	0.522																																																	0													131	147	141					1																	22816927		2203	4300	6503	SO:0001583	missense	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.486G>T	1.37:g.22816927G>T	ENSP00000364798:p.Glu162Asp		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E162D	ENST00000375647.4	37	c.486	CCDS224.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.64|14.64	2.594451|2.594451	0.46214|0.46214	.|.	.|.	ENSG00000184677|ENSG00000184677	ENST00000374649|ENST00000404138;ENST00000375647;ENST00000400239;ENST00000374651	.|T;T;T;T	.|0.08546	.|3.08;3.08;3.16;3.08	4.94|4.94	-0.504|-0.504	0.11997|0.11997	.|.	.|0.000000	.|0.53938	.|D	.|0.000054	.|T	.|0.06005	.|0.0156	L|L	0.48362|0.48362	1.52|1.52	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.001	.|T	.|0.32322	.|-0.9911	.|10	.|0.87932	.|D	.|0	.|-14.4987	0.8074|0.8074	0.01086|0.01086	0.3173:0.1166:0.3288:0.2373|0.3173:0.1166:0.3288:0.2373	.|.	.|162;162	.|F8WAI8;Q9NUA8	.|.;ZBT40_HUMAN	.|D	-1|162	.|ENSP00000384527:E162D;ENSP00000364798:E162D;ENSP00000383098:E162D;ENSP00000363782:E162D	.|ENSP00000363782:E162D	.|E	+|+	.|3	.|2	ZBTB40|ZBTB40	22689514|22689514	0.001000|0.001000	0.12720|0.12720	0.012000|0.012000	0.15200|0.15200	0.428000|0.428000	0.31595|0.31595	-0.077000|-0.077000	0.11394|0.11394	-0.037000|-0.037000	0.13646|0.13646	0.591000|0.591000	0.81541|0.81541	.|GAG	ZBTB40	-	NULL	ENSG00000184677		0.522	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1		0	30	0	G	NM_014870		22816927	1			no_errors	ENST00000375647	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.000	T	T	22816927	G	T	22816927	3	4	32	1	0	0	0	0	1	0	0	0	17590	962	34	3	488	3	ZBTB40	1	22816927	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	5073907	22816927	226433694	7	7586											
BSDC1	55108	genome.wustl.edu	37	chr1	32841985	32841985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaggcctgggctctgggCcgccggtgtggccagcaggc	3	6	19	13	2	1	0	0	0	1	0	1	1	1	1	4	7	1	2	4	7	0	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:32841985C>T	ENST00000455895.2	-	9	1067	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	BSDC1_ENST00000413080.1_Missense_Mutation_p.G284D|BSDC1_ENST00000446293.2_Missense_Mutation_p.G362D|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000341071.7_Missense_Mutation_p.G362D|BSDC1_ENST00000419121.2_Missense_Mutation_p.G289D|BSDC1_ENST00000449308.1_Missense_Mutation_p.G345D|BSDC1_ENST00000526031.1_Missense_Mutation_p.G250D	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	345										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGGCTCTGGGCCGCCGGTGTG	0.617																																																	0													63	71	68					1																	32841985		2203	4300	6503	SO:0001583	missense	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1034G>A	1.37:g.32841985C>T	ENSP00000412173:p.Gly345Asp		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.G362D	ENST00000455895.2	37	c.1085	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583263	0.28268	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	2.91	0.33838	.	0.479526	0.26404	N	0.024569	T	0.30448	0.0765	L	0.50333	1.59	0.09310	N	1	B;B;B;B;B	0.33266	0.404;0.001;0.052;0.071;0.009	B;B;B;B;B	0.27076	0.047;0.005;0.029;0.076;0.013	T	0.12016	-1.0564	9	0.27082	T	0.32	-1.7588	7.6063	0.28103	0.2588:0.6544:0.0:0.0868	.	250;289;362;362;345	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	D	345;284;362;250;289;362;345	.	ENSP00000344816:G362D	G	-	2	0	BSDC1	32614572	0.007000	0.16637	0.006000	0.13384	0.783000	0.44284	0.241000	0.18065	0.671000	0.31185	0.462000	0.41574	GGC	BSDC1	-	NULL	ENSG00000160058		0.617	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	-	0	18	0	C	NM_018045		32841985	-1	tier1	-	no_errors	ENST00000341071	ensembl	human	known	74_37	missense	19.51	32	8	SNP	0.003	T	T	32841985	C	T	32841985	3	4	32	1	0	0	0	0	1	0	0	0	1532	739	26	3	270	3	BSDC1	1	32841985	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	10025058	32841985	216408636	8	7587											
DEPDC1	55635	genome.wustl.edu	37	chr1	68947259	68947259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacataactgtagagcaTcgatggcaaccctctctaaa	16	8	6	11	1	1	1	0	0	1	1	3	2	1	1	1	1	5	3	1	1	7	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:68947259T>C	ENST00000456315.2	-	9	1913	c.1799A>G	c.(1798-1800)gAt>gGt	p.D600G	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.D316G	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	600	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CTGTAGAGCATCGATGGCAAC	0.393																																																	0													61	58	59					1																	68947259		2203	4300	6503	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1799A>G	1.37:g.68947259T>C	ENSP00000412292:p.Asp600Gly		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.D600G	ENST00000456315.2	37	c.1799	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.760200	0.31137	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.83914	-1.78;-1.78	5.72	2.08	0.27032	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.292158	0.41500	D	0.000863	T	0.62270	0.2414	L	0.44542	1.39	0.23232	N	0.998078	B;B	0.19706	0.038;0.01	B;B	0.26094	0.066;0.033	T	0.59658	-0.7413	10	0.87932	D	0	-0.5962	9.6446	0.39859	0.0:0.1991:0.0:0.8009	.	600;316	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	G	600;316	ENSP00000412292:D600G;ENSP00000360005:D316G	ENSP00000360005:D316G	D	-	2	0	DEPDC1	68719847	1.000000	0.71417	0.156000	0.22583	0.755000	0.42902	3.752000	0.55172	0.095000	0.17434	0.533000	0.62120	GAT	DEPDC1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000024526		0.393	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	-	0	80	0	T	NM_017779		68947259	-1	tier1	-	no_errors	ENST00000456315	ensembl	human	known	74_37	missense	17.65	84	18	SNP	0.958	C	C	68947259	T	C	68947259	3	2	32	1	0	0	0	0	1	0	0	0	4453	1435	50	4	652	4	DEPDC1	1	68947259	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	36105274	68947259	180303362	9	7588											
C1orf173	127254	genome.wustl.edu	37	chr1	75037442	75037442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctccttccatgtcccCgtccccttccgagttcctgt	2	15	5	19	2	1	0	0	0	1	0	8	1	7	0	9	0	0	1	9	0	0	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:75037442C>A	ENST00000326665.5	-	14	4170	c.3952G>T	c.(3952-3954)Ggg>Tgg	p.G1318W	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1318	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCATGTCCCCGTCCCCTTCC	0.557																																																	0													264	231	242					1																	75037442		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.3952G>T	1.37:g.75037442C>A	ENSP00000322609:p.Gly1318Trp		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.G1318W	ENST00000326665.5	37	c.3952	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575936	0.28092	.	.	ENSG00000178965	ENST00000326665	T	0.25414	1.8	1.58	-3.16	0.05217	.	.	.	.	.	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.55824	0.785	T	0.06625	-1.0816	9	0.66056	D	0.02	.	3.3929	0.07295	0.0:0.2397:0.2235:0.5369	.	1318	Q5RHP9	CA173_HUMAN	W	1318	ENSP00000322609:G1318W	ENSP00000322609:G1318W	G	-	1	0	C1orf173	74810030	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-2.005000	0.01460	-0.449000	0.07117	-0.448000	0.05591	GGG	C1orf173	-	NULL	ENSG00000178965		0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1		0	40	0	C			75037442	-1			no_errors	ENST00000326665	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	A	A	75037442	C	A	75037442	3	1	32	1	0	0	0	0	1	0	0	0	2021	652	23	2	644	2	C1orf173	1	75037442	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	6090183	75037442	174213179	10	7589											
GPR88	54112	genome.wustl.edu	37	chr1	101004692	101004692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggtcatctatctcgtgtCgtccttccgaaagctgcaga	8	12	9	12	3	3	1	1	0	2	1	7	2	5	1	2	1	2	2	2	1	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:101004692C>T	ENST00000315033.4	+	2	609	c.170C>T	c.(169-171)tCg>tTg	p.S57L		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	57					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TATCTCGTGTCGTCCTTCCGA	0.672																																																	0													42	38	39					1																	101004692		2203	4300	6503	SO:0001583	missense	0			AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"GPCR / Class A : Orphans"	4539	protein-coding gene	gene with protein product		607468	"G-protein coupled receptor 88", "G protein coupled receptor 88"				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.170C>T	1.37:g.101004692C>T	ENSP00000314223:p.Ser57Leu		Q29S24|Q6VN48	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S57L	ENST00000315033.4	37	c.170	CCDS772.1	1	.	.	.	.	.	.	.	.	.	.	C	5.822	0.335902	0.11013	.	.	ENSG00000181656	ENST00000315033	T	0.34275	1.37	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.378994	0.18577	U	0.137170	T	0.06005	0.0156	N	0.04335	-0.225	0.32880	D	0.510475	B	0.21606	0.058	B	0.15484	0.013	T	0.17349	-1.0372	10	0.32370	T	0.25	-11.9319	4.6691	0.12680	0.0:0.6354:0.2237:0.1409	.	57	Q9GZN0	GPR88_HUMAN	L	57	ENSP00000314223:S57L	ENSP00000314223:S57L	S	+	2	0	GPR88	100777280	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.238000	0.32707	2.300000	0.77407	0.563000	0.77884	TCG	GPR88	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181656		0.672	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR88	HGNC	protein_coding	OTTHUMT00000030212.1	-	0	32	0	C	NM_022049		101004692	1	tier1	-	no_errors	ENST00000315033	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T	T	101004692	C	T	101004692	3	4	32	1	0	0	0	0	1	0	0	0	6743	893	31	1	172	1	GPR88	1	101004692	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	25967250	101004692	148245929	11	7590											
RNPC3	55599	genome.wustl.edu	37	chr1	104068788	104068788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccgaacccttctggtcagGcacctgccggctgagcttac	7	8	11	15	2	2	1	1	1	1	0	2	3	2	1	4	3	4	3	4	3	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:104068788G>T	ENST00000533099.1	+	2	332	c.96G>T	c.(94-96)agG>agT	p.R32S	RN7SKP285_ENST00000410137.1_RNA|RP11-153F1.1_ENST00000444810.1_RNA|RP11-153F1.1_ENST00000447322.2_RNA|RNPC3_ENST00000524631.1_Missense_Mutation_p.R32S|RNPC3_ENST00000423855.2_Missense_Mutation_p.R32S			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	32	Necessary for interaction with PDCD7.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TTCTGGTCAGGCACCTGCCGG	0.607																																																	0													39	38	39					1																	104068788		692	1591	2283	SO:0001583	missense	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"RNA binding motif (RRM) containing"	18666	protein-coding gene	gene with protein product	"U11/U12 snRNP 65K"					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.96G>T	1.37:g.104068788G>T	ENSP00000432886:p.Arg32Ser		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R32S	ENST00000533099.1	37	c.96	CCDS781.1	1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488540	0.84854	.	.	ENSG00000185946	ENST00000524631;ENST00000531883;ENST00000533099;ENST00000423855	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.09	4.18	0.49190	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.26666	0.0652	M	0.64676	1.99	0.49687	D	0.999815	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.03514	-1.1029	10	0.87932	D	0	-7.9776	11.4223	0.49989	0.0839:0.0:0.9161:0.0	.	32;32	A8K1C9;Q96LT9	.;RBM40_HUMAN	S	32	ENSP00000437278:R32S;ENSP00000431344:R32S;ENSP00000432886:R32S;ENSP00000391432:R32S	ENSP00000391432:R32S	R	+	3	2	RNPC3	103841376	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.807000	0.38902	1.368000	0.46115	0.563000	0.77884	AGG	RNPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000185946		0.607	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	-	0	62	0	G	NM_017619		104068788	1	tier1	-	no_errors	ENST00000423855	ensembl	human	known	74_37	missense	28.21	56	22	SNP	1.000	T	T	104068788	G	T	104068788	3	4	32	1	0	0	0	0	1	0	0	0	13553	1194	42	3	98	3	RNPC3	1	104068788	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3064096	104068788	145181833	12	7591											
RBM15	64783	genome.wustl.edu	37	chr1	110883931	110883931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcgagatctgcccagcaGcagagaccagcctaggaagc	12	5	12	12	1	1	3	0	1	1	2	2	6	1	4	3	1	5	2	3	1	2	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:110883931G>A	ENST00000369784.3	+	1	2804	c.1904G>A	c.(1903-1905)aGc>aAc	p.S635N	RBM15_ENST00000487146.2_Missense_Mutation_p.S635N|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Missense_Mutation_p.S635N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	635	Arg-rich.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCCCAGCAGCAGAGACCAG	0.592			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													52	47	48					1																	110883931		2203	4300	6503	SO:0001583	missense	0			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"RNA binding motif (RRM) containing"	14959	protein-coding gene	gene with protein product	"one twenty-two"	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1904G>A	1.37:g.110883931G>A	ENSP00000358799:p.Ser635Asn		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.S635N	ENST00000369784.3	37	c.1904	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492000	0.26774	.	.	ENSG00000162775	ENST00000369784	T	0.18338	2.22	4.77	4.77	0.60923	.	0.000000	0.56097	D	0.000029	T	0.04048	0.0113	N	0.15975	0.35	0.39332	D	0.965431	B;B	0.23891	0.093;0.056	B;B	0.17433	0.018;0.008	T	0.32188	-0.9916	10	0.25106	T	0.35	-11.8098	11.4484	0.50138	0.0828:0.0:0.9172:0.0	.	635;635	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	635	ENSP00000358799:S635N	ENSP00000358799:S635N	S	+	2	0	RBM15	110685454	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	1.725000	0.38074	2.480000	0.83734	0.655000	0.94253	AGC	RBM15	-	NULL	ENSG00000162775		0.592	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	-	0	25	0	G	NM_022768		110883931	1	tier1	-	no_errors	ENST00000369784	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	A	A	110883931	G	A	110883931	3	1	32	1	0	0	0	0	1	0	0	0	13161	971	34	3	1906	3	RBM15	1	110883931	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	6815143	110883931	138366690	13	7592											
PTPN22	26191	genome.wustl.edu	37	chr1	114414233	114414233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaacttctgcagaatttCtctttggtccatgctgcaga	9	13	9	10	0	2	2	0	0	2	2	4	3	3	3	1	2	4	3	1	2	2	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:114414233C>G	ENST00000359785.5	-	1	148	c.13G>C	c.(13-15)Gaa>Caa	p.E5Q	PTPN22_ENST00000528414.1_Missense_Mutation_p.E5Q|PTPN22_ENST00000420377.2_Missense_Mutation_p.E5Q|PTPN22_ENST00000460620.1_Missense_Mutation_p.E5Q|PTPN22_ENST00000525799.1_Missense_Mutation_p.E5Q|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000538253.1_5'UTR	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	5					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCAGAATTTCTCTTTGGTCC	0.453																																																	0													100	104	103					1																	114414233		2203	4300	6503	SO:0001583	missense	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.13G>C	1.37:g.114414233C>G	ENSP00000352833:p.Glu5Gln		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E5Q	ENST00000359785.5	37	c.13	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280402	0.80692	.	.	ENSG00000134242	ENST00000460620;ENST00000359785;ENST00000528414;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.14766	2.48;3.63;3.36;3.52;3.05	5.28	5.28	0.74379	.	0.386762	0.27193	N	0.020490	T	0.25382	0.0617	M	0.64997	1.995	0.80722	D	1	P;D;D;D;B;D	0.63880	0.951;0.976;0.966;0.993;0.39;0.976	B;P;P;D;B;P	0.63488	0.323;0.746;0.557;0.915;0.139;0.818	T	0.00307	-1.1830	10	0.59425	D	0.04	.	16.8618	0.86020	0.0:1.0:0.0:0.0	.	5;5;5;5;5;5	E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2-5;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	Q	5	ENSP00000433141:E5Q;ENSP00000352833:E5Q;ENSP00000435176:E5Q;ENSP00000388229:E5Q;ENSP00000432674:E5Q	ENSP00000346621:E5Q	E	-	1	0	PTPN22	114215756	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.126000	0.42026	2.744000	0.94065	0.655000	0.94253	GAA	PTPN22	-	pirsf_Non-rcpt_Tyr_Pase_8/22	ENSG00000134242		0.453	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	-	0	43	0	C	NM_015967		114414233	-1	tier1	-	no_errors	ENST00000359785	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	G	G	114414233	C	G	114414233	3	3	32	1	0	0	0	0	1	0	0	0	12832	922	32	5	2517	5	PTPN22	1	114414233	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	3530302	114414233	134836388	14	7593											
PI4KB	5298	genome.wustl.edu	37	chr1	151265383	151265383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagagtttggtggtgataGaccgcatactgccatccacc	10	10	10	11	1	0	3	0	1	0	2	1	3	1	3	4	2	2	2	4	2	3	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:151265383G>T	ENST00000368873.1	-	12	2564	c.2396C>A	c.(2395-2397)tCt>tAt	p.S799Y	PI4KB_ENST00000368872.1_Missense_Mutation_p.S784Y|PI4KB_ENST00000529142.1_Missense_Mutation_p.S467Y|PI4KB_ENST00000271657.5_Missense_Mutation_p.S811Y|PI4KB_ENST00000368874.4_Missense_Mutation_p.S784Y|PI4KB_ENST00000368875.2_Missense_Mutation_p.S811Y			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	799					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGTGATAGACCGCATACT	0.577																																					Colon(154;765 1838 9854 28443 37492)												0													144	137	140					1																	151265383		2203	4300	6503	SO:0001583	missense	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2396C>A	1.37:g.151265383G>T	ENSP00000357867:p.Ser799Tyr		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S811Y	ENST00000368873.1	37	c.2432		1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917329	0.92249	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872;ENST00000455060	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.54	5.54	0.83059	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.90425	3.115	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.87578	0.971;0.998;0.998	T	0.61613	-0.7027	10	0.87932	D	0	-15.2122	17.0271	0.86450	0.0:0.0:1.0:0.0	.	799;784;467	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	Y	784;811;811;799;467;784;210	ENSP00000357868:S784Y;ENSP00000357869:S811Y;ENSP00000271657:S811Y;ENSP00000357867:S799Y;ENSP00000433149:S467Y;ENSP00000357866:S784Y;ENSP00000410974:S210Y	ENSP00000271657:S811Y	S	-	2	0	PI4KB	149532007	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	6.944000	0.75940	2.884000	0.98904	0.655000	0.94253	TCT	PI4KB	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000143393		0.577	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3		0	43	0	G	NM_002651		151265383	-1			no_errors	ENST00000271657	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	151265383	G	T	151265383	3	4	32	1	0	0	0	0	1	0	0	0	11913	942	33	3	58	3	PI4KB	1	151265383	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	36851150	151265383	97985238	15	7594											
RFX5	5993	genome.wustl.edu	37	chr1	151314865	151314865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttctgcttctttggtatGctgggaaccggggccccttc	4	14	11	12	1	3	0	0	0	3	0	4	1	3	1	3	4	3	3	3	4	2	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:151314865G>A	ENST00000290524.4	-	11	1826	c.1648C>T	c.(1648-1650)Cat>Tat	p.H550Y	RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452513.2_Missense_Mutation_p.H510Y|RFX5_ENST00000368870.2_Missense_Mutation_p.H550Y|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452671.2_Missense_Mutation_p.H550Y	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	550					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTGGTATGCTGGGAACCG	0.542																																																	0													123	125	124					1																	151314865		2203	4300	6503	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1648C>T	1.37:g.151314865G>A	ENSP00000290524:p.His550Tyr		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.H550Y	ENST00000290524.4	37	c.1648	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471623	0.26423	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.25	3.35	0.38373	.	0.461581	0.21345	N	0.076071	T	0.17195	0.0413	M	0.62723	1.935	0.22401	N	0.999138	B;B	0.31100	0.308;0.001	B;B	0.31751	0.135;0.001	T	0.15150	-1.0447	10	0.72032	D	0.01	-0.7348	6.9934	0.24767	0.0938:0.1822:0.724:0.0	.	510;550	B7Z848;P48382	.;RFX5_HUMAN	Y	550;550;550;510;550	ENSP00000290524:H550Y;ENSP00000357864:H550Y;ENSP00000389130:H550Y;ENSP00000398388:H510Y;ENSP00000376502:H550Y	ENSP00000290524:H550Y	H	-	1	0	RFX5	149581489	0.985000	0.35326	0.605000	0.28930	0.912000	0.54170	1.444000	0.35068	0.761000	0.33130	0.591000	0.81541	CAT	RFX5	-	NULL	ENSG00000143390		0.542	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6		0	28	0	G	NM_000449		151314865	-1			no_errors	ENST00000290524	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.711	A	A	151314865	G	A	151314865	3	1	32	1	0	0	0	0	1	0	0	0	13311	1319	46	3	206	3	RFX5	1	151314865	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	49482	151314865	97935756	16	7595											
FLG	2312	genome.wustl.edu	37	chr1	152280506	152280506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccggctctgtcttcgtGatgggacctggggtgtctgg	4	12	16	9	2	3	2	0	2	3	0	4	3	3	3	2	5	0	1	2	5	0	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:152280506G>A	ENST00000368799.1	-	3	6891	c.6856C>T	c.(6856-6858)Cac>Tac	p.H2286Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2286	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTTCGTGATGGGACCTG	0.557									Ichthyosis																																								0													252	258	256					1																	152280506		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6856C>T	1.37:g.152280506G>A	ENSP00000357789:p.His2286Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.H2286Y	ENST00000368799.1	37	c.6856	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	6.385	0.439054	0.12104	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01665	4.7	2.73	2.73	0.32206	.	.	.	.	.	T	0.00845	0.0028	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44112	-0.9349	9	0.46703	T	0.11	.	9.1783	0.37125	0.0:0.0:1.0:0.0	.	2286	P20930	FILA_HUMAN	Y	2286;196	ENSP00000357789:H2286Y	ENSP00000271820:H196Y	H	-	1	0	FLG	150547130	0.002000	0.14202	0.006000	0.13384	0.028000	0.11728	0.455000	0.21843	1.587000	0.49959	0.420000	0.28162	CAC	FLG	-	NULL	ENSG00000143631		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	193	0	G	NM_002016		152280506	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	5.91	238	15	SNP	0.009	A	A	152280506	G	A	152280506	3	1	32	1	0	0	0	0	1	0	0	0	5944	1290	45	3	5333	3	FLG	1	152280506	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	965641	152280506	96970115	17	7596											
UBQLN4	56893	genome.wustl.edu	37	chr1	156020165	156020165	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcatctgggggttggccaTaatcatgtgacgcatcagat	9	11	12	9	1	3	2	2	1	1	1	3	2	3	2	1	3	1	3	1	3	1	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:156020165T>A	ENST00000368309.3	-	4	750	c.658A>T	c.(658-660)Atg>Ttg	p.M220L	UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	220					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGGTTGGCCATAATCATGTGA	0.527																																																	0													177	153	161					1																	156020165		2203	4300	6503	SO:0001583	missense	0			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.658A>T	1.37:g.156020165T>A	ENSP00000357292:p.Met220Leu		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.M220L	ENST00000368309.3	37	c.658	CCDS1127.1	1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.784045	0.31593	.	.	ENSG00000160803	ENST00000368309	T	0.22743	1.94	4.49	4.49	0.54785	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.05410	0.0143	N	0.16567	0.415	0.80722	D	1	B;B	0.19331	0.035;0.012	B;B	0.12837	0.008;0.008	T	0.20605	-1.0270	10	0.21540	T	0.41	-43.4845	12.8026	0.57594	0.0:0.0:0.0:1.0	.	200;220	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	L	220	ENSP00000357292:M220L	ENSP00000357292:M220L	M	-	1	0	UBQLN4	154286789	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.985000	0.63845	1.900000	0.55004	0.459000	0.35465	ATG	UBQLN4	-	superfamily_ARM-type_fold,smart_STI1_HS-bd	ENSG00000160803		0.527	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN4	HGNC	protein_coding	OTTHUMT00000046193.1	-	0	52	0	T	NM_020131		156020165	-1	tier1	-	no_errors	ENST00000368309	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	A	A	156020165	T	A	156020165	3	1	32	1	0	0	0	0	1	0	0	0	16948	1406	49	5	1179	5	UBQLN4	1	156020165	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	3739659	156020165	93230456	18	7597											
MNDA	4332	genome.wustl.edu	37	chr1	158815481	158815481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacagcgccatttaaataCgagtccccagaaaatgggaa	16	6	9	10	2	0	1	0	0	0	1	1	3	1	2	3	1	3	1	3	1	7	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:158815481C>T	ENST00000368141.4	+	5	936	c.675C>T	c.(673-675)taC>taT	p.Y225Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	225	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y225Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CATTTAAATACGAGTCCCCAG	0.458																																																	1	Substitution - coding silent(1)	endometrium(1)											87	83	84					1																	158815481		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.675C>T	1.37:g.158815481C>T				Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.Y225	ENST00000368141.4	37	c.675	CCDS1177.1	1																																																																																			MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163563		0.458	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1		0	44	0	C	NM_002432		158815481	1			no_errors	ENST00000368141	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.017	T	T	158815481	C	T	158815481	2	4	32	1	0	0	0	0	0	0	0	1	9714	547	19	1		1	MNDA	1	158815481	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	2795316	158815481	90435140	19	7598											
PCP4L1	654790	genome.wustl.edu	37	chr1	161254251	161254251	+	Frame_Shift_Del	DEL	A	A	-																															tccggcgatttcagaaaaggAaaaaggatcccagctcctga																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:161254251delA	ENST00000504449.1	+	3	435	c.187delA	c.(187-189)aaafs	p.K64fs		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	64	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAGAAAAGGAAAAAGGATCC	0.527																																																	0													58	60	59					1																	161254251		1933	4139	6072	SO:0001589	frameshift_variant	0			BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"purkinje cell protein 4 like 1"				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.187delA	1.37:g.161254251delA	ENSP00000426296:p.Lys64fs		B2RV24|B9EJG4	Frame_Shift_Del	DEL	NULL	p.K64fs	ENST00000504449.1	37	c.187	CCDS53412.1	1																																																																																			PCP4L1	-	NULL	ENSG00000248485		0.527	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCP4L1	HGNC	protein_coding	OTTHUMT00000082986.2		0	22	0	A			161254251	1	tier1		no_errors	ENST00000504449	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	161254251	A	-	161254251	7	5	32	1	0	1	0	1	0	0	0	0	11638	247	9	0	197	0	PCP4L1	1	161254251	Frame_Shift_Del	DEL	A	TCGA-IG-A97H-01A-11D-A387-09	2438770	161254251	87996370	20	7599											
RFWD2	64326	genome.wustl.edu	37	chr1	175957539	175957539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacagttttagctgactGtctgttgagctgaggaaaag	10	13	11	7	0	1	3	0	3	1	0	2	4	2	4	1	1	2	4	1	1	3	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:175957539G>T	ENST00000367669.3	-	17	2371	c.1857C>A	c.(1855-1857)gaC>gaA	p.D619E	RFWD2_ENST00000308769.8_Missense_Mutation_p.D595E	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	619					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGCTGACTGTCTGTTGAGC	0.403																																					Ovarian(134;1413 1765 5706 35534 51541)												0													120	104	109					1																	175957539		2203	4300	6503	SO:0001583	missense	0			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"WD repeat domain containing", "RING-type (C3HC4) zinc fingers"	17440	protein-coding gene	gene with protein product		608067	"ring finger and WD repeat domain 2"			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.1857C>A	1.37:g.175957539G>T	ENSP00000356641:p.Asp619Glu		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D619E	ENST00000367669.3	37	c.1857	CCDS30944.1	1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439443	0.63067	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	D;D;D	0.89196	-2.48;-2.48;-2.48	4.98	0.768	0.18487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.048504	0.85682	D	0.000000	D	0.95118	0.8418	H	0.95470	3.675	0.58432	D	0.999995	D;P;D;D;P	0.89917	1.0;0.568;1.0;0.961;0.568	D;B;D;P;B	0.97110	1.0;0.222;0.999;0.702;0.222	D	0.93841	0.7136	10	0.87932	D	0	-15.2719	9.603	0.39617	0.3274:0.0:0.6726:0.0	.	394;379;595;619;619	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	E	394;619;454;595	ENSP00000356641:D619E;ENSP00000356638:D454E;ENSP00000310943:D595E	ENSP00000310943:D595E	D	-	3	2	RFWD2	174224162	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	1.466000	0.35310	0.183000	0.20059	-0.218000	0.12543	GAC	RFWD2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143207		0.403	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	-	0	30	0	G	NM_022457		175957539	-1	tier1	-	no_errors	ENST00000367669	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	175957539	G	T	175957539	3	4	32	1	0	0	0	0	1	0	0	0	13305	1368	48	3	354	3	RFWD2	1	175957539	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	14703288	175957539	73293082	21	7600											
C1orf25	81627	genome.wustl.edu	37	chr1	185108677	185108677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgaatgcagaatctaGataattcactgatgttccaa	14	14	6	7	0	3	4	1	2	2	2	4	4	4	4	1	0	1	2	1	0	5	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:185108677G>T	ENST00000367506.5	-	9	1412	c.1144C>A	c.(1144-1146)Cta>Ata	p.L382I	TRMT1L_ENST00000367504.3_Missense_Mutation_p.L226I	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	382	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCAGAATCTAGATAATTCACT	0.343																																																	0													40	43	42					1																	185108677		2203	4300	6503	SO:0001583	missense	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"TRM1-like"	611673	"chromosome 1 open reading frame 25", "TRM1 tRNA methyltransferase 1-like"	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1144C>A	1.37:g.185108677G>T	ENSP00000356476:p.Leu382Ile		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L382I	ENST00000367506.5	37	c.1144	CCDS1366.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349439	0.82132	.	.	ENSG00000121486	ENST00000367504;ENST00000367506;ENST00000458395	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	L	0.48986	1.54	0.80722	D	1	D	0.71674	0.998	D	0.67231	0.95	T	0.70417	-0.4877	9	0.37606	T	0.19	-9.4588	20.6593	0.99626	0.0:0.0:1.0:0.0	.	382	Q7Z2T5	TRM1L_HUMAN	I	226;382;6	.	ENSP00000356474:L226I	L	-	1	2	TRMT1L	183375300	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.465000	0.66725	2.885000	0.99019	0.655000	0.94253	CTA	TRMT1L	-	pfam_TRM1	ENSG00000121486		0.343	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1L	HGNC	protein_coding	OTTHUMT00000085787.1	-	0	41	0	G	NM_030934		185108677	-1	tier1	-	no_errors	ENST00000367506	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	185108677	G	T	185108677	3	4	32	1	0	0	0	0	1	0	0	0	2041	933	33	3	1085	3	C1orf25	1	185108677	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	9151138	185108677	64141944	22	7601											
IPO9	55705	genome.wustl.edu	37	chr1	201837796	201837796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcccgtcgtcgcctcactgGctcaggacatcttcaaggag	8	9	10	14	3	4	0	3	0	1	0	7	2	5	2	2	3	0	1	2	3	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:201837796G>A	ENST00000361565.4	+	16	1945	c.1876G>A	c.(1876-1878)Gct>Act	p.A626T		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	626					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CGCCTCACTGGCTCAGGACAT	0.547																																																	0													92	76	82					1																	201837796		2203	4300	6503	SO:0001583	missense	0			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1876G>A	1.37:g.201837796G>A	ENSP00000354742:p.Ala626Thr		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.A626T	ENST00000361565.4	37	c.1876	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714232	0.68730	.	.	ENSG00000198700	ENST00000361565	T	0.67523	-0.27	6.17	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.044536	0.85682	D	0.000000	T	0.51346	0.1669	N	0.22421	0.69	0.80722	D	1	B	0.27286	0.174	B	0.22880	0.042	T	0.46498	-0.9187	10	0.20046	T	0.44	-9.54	14.7574	0.69576	0.0:0.0:0.8544:0.1456	.	626	Q96P70	IPO9_HUMAN	T	626	ENSP00000354742:A626T	ENSP00000354742:A626T	A	+	1	0	IPO9	200104419	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.491000	0.81471	1.611000	0.50210	0.655000	0.94253	GCT	IPO9	-	superfamily_ARM-type_fold	ENSG00000198700		0.547	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1	-	0	40	0	G	NM_018085		201837796	1	tier1	-	no_errors	ENST00000361565	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	201837796	G	A	201837796	3	1	32	1	0	0	0	0	1	0	0	0	7826	1203	42	3	1938	3	IPO9	1	201837796	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	16729119	201837796	47412825	23	7602											
RGS7	6000	genome.wustl.edu	37	chr1	241031952	241031952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcctttcaatcttgtCtctcttcttgtccactctgt	4	20	4	13	0	7	0	1	0	6	0	10	1	9	0	2	0	0	0	2	0	1	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr1:241031952C>A	ENST00000407727.1	-	8	543	c.544G>T	c.(544-546)Gac>Tac	p.D182Y	RGS7_ENST00000446183.2_Missense_Mutation_p.D98Y|RGS7_ENST00000348120.2_Missense_Mutation_p.D129Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D129Y|RGS7_ENST00000366563.1_Missense_Mutation_p.D182Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D182Y|RGS7_ENST00000366562.4_Missense_Mutation_p.D182Y|RGS7_ENST00000331110.7_Missense_Mutation_p.D156Y|RGS7_ENST00000366565.1_Missense_Mutation_p.D182Y			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	182					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCAATCTTGTCTCTCTTCTTG	0.448																																																	0													155	120	132					1																	241031952		2203	4300	6503	SO:0001583	missense	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.544G>T	1.37:g.241031952C>A	ENSP00000384428:p.Asp182Tyr		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.D182Y	ENST00000407727.1	37	c.544		1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541842	0.85917	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T;T;T	0.38887	1.36;1.33;1.34;1.33;1.11;1.34;1.36;1.34;1.33;1.34	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.85130	0.98;0.982;0.992;0.997;0.987;0.967;0.982	T	0.72114	-0.4388	10	0.87932	D	0	-8.7199	18.6358	0.91378	0.0:1.0:0.0:0.0	.	98;156;129;182;182;182;182	B7Z223;B7Z257;P49802-4;P49802-2;P49802-5;P49802-3;P49802	.;.;.;.;.;.;RGS7_HUMAN	Y	156;182;182;182;13;129;98;182;182;129	ENSP00000331485:D156Y;ENSP00000355523:D182Y;ENSP00000355522:D182Y;ENSP00000355521:D182Y;ENSP00000404399:D13Y;ENSP00000341242:D129Y;ENSP00000390138:D98Y;ENSP00000355520:D182Y;ENSP00000384428:D182Y;ENSP00000385508:D129Y	ENSP00000331485:D156Y	D	-	1	0	RGS7	239098575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.653000	0.90120	0.655000	0.94253	GAC	RGS7	-	NULL	ENSG00000182901		0.448	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		-	0	37	0	C	NM_002924		241031952	-1	tier1	-	no_errors	ENST00000407727	ensembl	human	known	74_37	missense	36.07	39	22	SNP	1.000	A	A	241031952	C	A	241031952	3	1	32	1	0	0	0	0	1	0	0	0	13355	913	32	3	959	3	RGS7	1	241031952	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	39194156	241031952	8218669	24	7603											
PXDN	7837	genome.wustl.edu	37	chr2	1653244	1653244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagccattctcgtacaCggatttcagcaggcgctcga	9	10	11	11	4	2	1	1	1	1	0	4	3	2	2	1	2	3	4	1	2	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:1653244C>T	ENST00000252804.4	-	17	2358	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	770					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V770M(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCTCGTACACGGATTTCAGC	0.637																																																	1	Substitution - Missense(1)	large_intestine(1)											99	112	108					2																	1653244		2028	4194	6222	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2308G>A	2.37:g.1653244C>T	ENSP00000252804:p.Val770Met		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.V770M	ENST00000252804.4	37	c.2308	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114294	0.77210	.	.	ENSG00000130508	ENST00000252804	T	0.69306	-0.39	5.63	5.63	0.86233	.	0.065909	0.64402	D	0.000011	T	0.80105	0.4562	M	0.65677	2.01	0.58432	D	0.999999	D	0.69078	0.997	D	0.63033	0.91	T	0.79743	-0.1675	10	0.51188	T	0.08	-47.2202	19.7328	0.96190	0.0:1.0:0.0:0.0	.	770	Q92626	PXDN_HUMAN	M	770	ENSP00000252804:V770M	ENSP00000252804:V770M	V	-	1	0	PXDN	1632251	1.000000	0.71417	0.994000	0.49952	0.668000	0.39293	7.698000	0.84413	2.661000	0.90470	0.558000	0.71614	GTG	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.637	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1		0	25	0	C	XM_056455		1653244	-1			no_errors	ENST00000252804	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	1653244	C	T	1653244	3	4	32	1	0	0	0	0	1	0	0	0	12892	536	19	1	2159	1	PXDN	2	1653244	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		1653244	241546129	25	7604											
GREB1	9687	genome.wustl.edu	37	chr2	11761097	11761097	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttgttcggctcacaGaagtggatgtctatgacgag	9	11	14	7	2	2	2	1	1	1	1	3	5	2	4	0	3	1	3	0	3	2	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:11761097G>T	ENST00000381486.2	+	23	4411	c.4111G>T	c.(4111-4113)Gaa>Taa	p.E1371*	GREB1_ENST00000234142.5_Nonsense_Mutation_p.E1371*|GREB1_ENST00000396123.1_Nonsense_Mutation_p.E369*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1371						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCGGCTCACAGAAGTGGATGT	0.483																																					Ovarian(39;850 945 2785 23371 33093)												0													202	207	205					2																	11761097		1990	4159	6149	SO:0001587	stop_gained	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4111G>T	2.37:g.11761097G>T	ENSP00000370896:p.Glu1371*		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.E1371*	ENST00000381486.2	37	c.4111	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	44	11.205679	0.99531	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.8647	18.1253	0.89584	0.0:0.0:1.0:0.0	.	.	.	.	X	1371;1371;369	.	ENSP00000234142:E1371X	E	+	1	0	GREB1	11678548	1.000000	0.71417	0.688000	0.30117	0.216000	0.24613	9.312000	0.96287	2.288000	0.76882	0.643000	0.83706	GAA	GREB1	-	superfamily_P-loop_NTPase	ENSG00000196208		0.483	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1		0	32	0	G	NM_014668		11761097	1			no_errors	ENST00000234142	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	T	T	11761097	G	T	11761097	4	4	32	1	0	0	0	0	0	1	0	0	6787	943	33	3	4305	3	GREB1	2	11761097	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	10107853	11761097	231438276	26	7605											
OTOF	9381	genome.wustl.edu	37	chr2	26695388	26695388	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccccacccgccttaccGcgtccagcttcaccatggtc	6	8	7	20	3	1	1	1	1	0	0	3	1	2	1	7	1	2	1	7	1	1	2	rs200476647	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:26695388G>T	ENST00000272371.2	-	30	3989	c.3863C>A	c.(3862-3864)gCg>gAg	p.A1288E	OTOF_ENST00000338581.6_Splice_Site_p.A521E|OTOF_ENST00000339598.3_Splice_Site_p.A521E|OTOF_ENST00000402415.3_Splice_Site_p.A598E|OTOF_ENST00000403946.3_Splice_Site_p.A1288E	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1288					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCTTACCGCGTCCAGCTT	0.577																																					GBM(102;732 1451 20652 24062 31372)												0													104	84	90					2																	26695388		2203	4300	6503	SO:0001630	splice_region_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3864+1C>A	2.37:g.26695388G>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A1288E	ENST00000272371.2	37	c.3863	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794759	0.90453	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80653	-1.07;-1.07;-1.14;-1.4;-1.4	4.93	4.93	0.64822	.	0.103097	0.64402	D	0.000003	T	0.75895	0.3912	M	0.62723	1.935	0.80722	D	1	B;B;B;B	0.32203	0.36;0.102;0.007;0.003	B;B;B;B	0.30179	0.112;0.056;0.007;0.006	T	0.73046	-0.4106	10	0.08837	T	0.75	-34.6374	16.7288	0.85430	0.0:0.0:1.0:0.0	.	1288;521;598;521	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	E	521;521;598;1288;1288	ENSP00000345137:A521E;ENSP00000344521:A521E;ENSP00000383906:A598E;ENSP00000272371:A1288E;ENSP00000385255:A1288E	ENSP00000272371:A1288E	A	-	2	0	OTOF	26548892	1.000000	0.71417	0.998000	0.56505	0.901000	0.52897	8.748000	0.91615	2.295000	0.77249	0.561000	0.74099	GCG	OTOF	-	NULL	ENSG00000115155		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	38	0	G		Missense_Mutation	26695388	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	T	T	26695388	G	T	26695388	5	4	32	1	0	0	0	0	0	0	1	0	11342	1101	38	2	2383	2	OTOF	2	26695388	Splice_Site	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	14934291	26695388	216503985	27	7606											
CAPN13	92291	genome.wustl.edu	37	chr2	30957354	30957354	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagtccgagctcaggaGgactccagggcttgtctgaa	10	7	12	12	1	2	1	1	1	1	0	4	4	4	3	3	3	1	2	3	3	2	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:30957354G>C	ENST00000295055.8	-	19	1935	c.1759C>G	c.(1759-1761)Ctc>Gtc	p.L587V	CAPN13_ENST00000534090.2_Missense_Mutation_p.L587V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	587					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGCTCAGGAGGACTCCAGGG	0.537																																																	0													75	80	79					2																	30957354		1901	4132	6033	SO:0001583	missense	0				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1759C>G	2.37:g.30957354G>C	ENSP00000295055:p.Leu587Val		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L587V	ENST00000295055.8	37	c.1759	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	G	4.999	0.185592	0.09495	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.32753	1.44;1.44	4.84	2.86	0.33363	EF-hand-like domain (1);	0.319446	0.34777	N	0.003696	T	0.26882	0.0658	L	0.60455	1.87	0.36889	D	0.889775	B	0.25772	0.134	B	0.27380	0.079	T	0.16482	-1.0401	10	0.62326	D	0.03	.	4.6574	0.12624	0.374:0.0:0.626:0.0	.	587	Q6MZZ7	CAN13_HUMAN	V	587	ENSP00000295055:L587V;ENSP00000431298:L587V	ENSP00000295055:L587V	L	-	1	0	CAPN13	30810858	0.918000	0.31147	0.102000	0.21198	0.261000	0.26267	1.368000	0.34216	0.450000	0.26774	0.455000	0.32223	CTC	CAPN13	-	NULL	ENSG00000162949		0.537	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	-	0	43	0	G	NM_144575		30957354	-1	tier1	-	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	30.77	43	20	SNP	0.630	C	C	30957354	G	C	30957354	3	2	32	1	0	0	0	0	1	0	0	0	2633	1000	35	5	266	5	CAPN13	2	30957354	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	4261966	30957354	212242019	28	7607											
OXER1	165140	genome.wustl.edu	37	chr2	42991002	42991002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaaactgttccccaccagGcccaggacaaactccagggc	11	4	9	17	0	0	0	0	0	0	0	2	1	2	1	6	3	2	1	6	3	2	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:42991002G>A	ENST00000378661.2	-	1	399	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	106					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						TCCCCACCAGGCCCAGGACAA	0.647																																																	0													42	46	45					2																	42991002		2203	4300	6503	SO:0001819	synonymous_variant	0			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.318C>T	2.37:g.42991002G>A			Q86WP7|Q8NGW4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G106	ENST00000378661.2	37	c.318	CCDS1810.1	2																																																																																			OXER1	-	prints_GPCR_Rhodpsn	ENSG00000162881		0.647	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXER1	HGNC	protein_coding	OTTHUMT00000250514.1	-	0	32	0	G	NM_148962		42991002	-1	tier1	-	no_errors	ENST00000378661	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.885	A	A	42991002	G	A	42991002	2	1	32	1	0	0	0	0	0	0	0	1	11370	1190	42	3		3	OXER1	2	42991002	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	12033648	42991002	200208371	29	7608											
ANKRD36	375248	genome.wustl.edu	37	chr2	97779555	97779555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttcgcatttccccaatacCccattaaaccgtatcatctg	10	12	4	15	2	2	0	1	0	1	0	4	0	3	0	5	0	2	3	5	0	5	5	rs542428195	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:97779555C>T	ENST00000461153.2	+	1	323	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.P27S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	27										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCCCCAATACCCCATTAAACC	0.493													C|||	16	0.00319489	0	0	5008	,	,		11526	0.0149		0	False		,,,				2504	0.001																0													107	106	106					2																	97779555		1997	4180	6177	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.79C>T	2.37:g.97779555C>T	ENSP00000419530:p.Pro27Ser		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P27S	ENST00000461153.2	37	c.79	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	C	2.591	-0.295243	0.05532	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000393513;ENST00000289105;ENST00000455519	T;T	0.53423	0.62;0.62	0.74	-0.399	0.12415	.	.	.	.	.	T	0.18718	0.0449	N	0.04090	-0.28	0.09310	N	0.999996	B;P;B	0.35383	0.001;0.498;0.023	B;B;B	0.26094	0.0;0.066;0.008	T	0.12066	-1.0562	9	0.72032	D	0.01	.	3.692	0.08350	0.43:0.57:0.0:0.0	.	27;27;27	A6QL64;F2Z332;A6QL64-4	AN36A_HUMAN;.;.	S	27	ENSP00000419530:P27S;ENSP00000391950:P27S	ENSP00000289105:P27S	P	+	1	0	ANKRD36	97143282	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.791000	0.04599	-0.151000	0.11176	-0.723000	0.03601	CCC	ANKRD36	-	NULL	ENSG00000135976		0.493	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5		0	47	0	C			97779555	1			no_errors	ENST00000420699	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.000	T	T	97779555	C	T	97779555	3	4	32	1	0	0	0	0	1	0	0	0	665	623	22	3	81	3	ANKRD36	2	97779555	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	54788553	97779555	145419818	30	7609											
EIF5B	9669	genome.wustl.edu	37	chr2	99977012	99977012	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaaactgttgcagtgaaGgtgaaagacagacctttgtt	14	10	12	5	0	0	5	0	2	0	3	0	6	0	5	1	1	2	3	1	1	3	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:99977012G>A	ENST00000289371.6	+	3	448	c.246G>A	c.(244-246)aaG>aaA	p.K82K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	82					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTGCAGTGAAGGTGAAAGACA	0.373																																					Colon(162;2388 2567 2705 3444)												0													78	75	76					2																	99977012		1867	4117	5984	SO:0001630	splice_region_variant	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.246+1G>A	2.37:g.99977012G>A			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.K82	ENST00000289371.6	37	c.246	CCDS42721.1	2																																																																																			EIF5B	-	NULL	ENSG00000158417		0.373	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	-	0	62	0	G	NM_015904	Silent	99977012	1	tier1	-	no_errors	ENST00000289371	ensembl	human	known	74_37	silent	10.13	71	8	SNP	1.000	A	A	99977012	G	A	99977012	5	1	32	1	0	0	0	0	0	0	1	0	5060	1014	35	3	256	3	EIF5B	2	99977012	Splice_Site	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	2197457	99977012	143222361	31	7610											
INSIG2	51141	genome.wustl.edu	37	chr2	118860856	118860856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtggtccagtgtaatgCggtgtgtagcagtctttgtt	7	14	15	5	1	1	1	0	0	1	1	2	2	2	1	1	2	2	4	1	2	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:118860856C>T	ENST00000245787.4	+	3	534	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	110					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CAGTGTAATGCGGTGTGTAGC	0.393																																																	0													235	231	233					2																	118860856		2203	4300	6503	SO:0001583	missense	0			AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.328C>T	2.37:g.118860856C>T	ENSP00000245787:p.Arg110Trp		A8K5W8|Q8TBI8	Missense_Mutation	SNP	pfam_INSIG_fam	p.R110W	ENST00000245787.4	37	c.328	CCDS2122.1	2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834841	0.71373	.	.	ENSG00000125629	ENST00000245787	.	.	.	5.4	5.4	0.78164	.	0.056406	0.64402	D	0.000001	T	0.78941	0.4363	M	0.77616	2.38	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.879	T	0.80781	-0.1229	9	0.87932	D	0	.	14.2365	0.65929	0.1489:0.8511:0.0:0.0	.	2;110	B4DQ23;Q9Y5U4	.;INSI2_HUMAN	W	110	.	ENSP00000245787:R110W	R	+	1	2	INSIG2	118577326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.264000	0.43302	2.805000	0.96524	0.655000	0.94253	CGG	INSIG2	-	pfam_INSIG_fam	ENSG00000125629		0.393	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSIG2	HGNC	protein_coding	OTTHUMT00000129624.1		0	40	0	C	NM_016133		118860856	1			no_errors	ENST00000245787	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	118860856	C	T	118860856	3	4	32	1	0	0	0	0	1	0	0	0	7793	759	27	1	334	1	INSIG2	2	118860856	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	18883844	118860856	124338517	32	7611											
NEB	4703	genome.wustl.edu	37	chr2	152468716	152468716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaccttgctcattgtcaggGcattattctttgctaggaca	8	15	8	10	0	4	0	3	0	1	0	4	1	4	1	1	2	2	3	1	2	2	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:152468716G>A	ENST00000172853.10	-	74	11207	c.11060C>T	c.(11059-11061)gCc>gTc	p.A3687V	NEB_ENST00000397345.3_Missense_Mutation_p.A3930V|NEB_ENST00000427231.2_Missense_Mutation_p.A3930V|NEB_ENST00000603639.1_Missense_Mutation_p.A3930V|NEB_ENST00000604864.1_Missense_Mutation_p.A3930V|NEB_ENST00000409198.1_Missense_Mutation_p.A3687V			P20929	NEBU_HUMAN	nebulin	3687					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGTCAGGGCATTATTCTT	0.463																																																	0													125	121	123					2																	152468716		1953	4164	6117	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11060C>T	2.37:g.152468716G>A	ENSP00000172853:p.Ala3687Val		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A3930V	ENST00000172853.10	37	c.11789		2	.	.	.	.	.	.	.	.	.	.	G	35	5.565855	0.96540	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.54	5.54	0.83059	.	0.059421	0.64402	D	0.000003	T	0.67411	0.2890	M	0.86573	2.825	0.80722	D	1	P	0.44690	0.841	P	0.51657	0.676	T	0.66352	-0.5945	10	0.30854	T	0.27	.	19.8413	0.96690	0.0:0.0:1.0:0.0	.	3687	P20929	NEBU_HUMAN	V	3687;3930;3930;3687	ENSP00000386259:A3687V;ENSP00000380505:A3930V;ENSP00000416578:A3930V;ENSP00000172853:A3687V	ENSP00000172853:A3687V	A	-	2	0	NEB	152176962	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.903000	0.87398	2.779000	0.95612	0.655000	0.94253	GCC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.463	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	79	0	G	NM_004543		152468716	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	152468716	G	A	152468716	3	1	32	1	0	0	0	0	1	0	0	0	10341	1203	42	3	14317	3	NEB	2	152468716	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	33607860	152468716	90730657	33	7612											
FIGN	55137	genome.wustl.edu	37	chr2	164468092	164468092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgctgagtacgggtcggtCcacaggaccttccaaaatgc	9	9	12	11	2	0	1	0	1	0	0	3	2	2	2	3	3	3	3	3	3	3	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:164468092C>T	ENST00000333129.3	-	3	564	c.250G>A	c.(250-252)Gac>Aac	p.D84N	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	84					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACGGGTCGGTCCACAGGACCT	0.478																																																	0													162	150	154					2																	164468092		1893	4119	6012	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.250G>A	2.37:g.164468092C>T	ENSP00000333836:p.Asp84Asn		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D84N	ENST00000333129.3	37	c.250	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978135	0.34942	.	.	ENSG00000182263	ENST00000333129	T	0.23348	1.91	6.17	6.17	0.99709	.	0.124624	0.52532	U	0.000080	T	0.27098	0.0664	L	0.40543	1.245	0.48236	D	0.999617	B	0.17667	0.023	B	0.16289	0.015	T	0.01972	-1.1237	10	0.34782	T	0.22	-32.4623	20.8794	0.99867	0.0:1.0:0.0:0.0	.	84	Q5HY92	FIGN_HUMAN	N	84	ENSP00000333836:D84N	ENSP00000333836:D84N	D	-	1	0	FIGN	164176338	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.999000	0.70665	2.941000	0.99782	0.655000	0.94253	GAC	FIGN	-	NULL	ENSG00000182263		0.478	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	46	0	C	NM_018086		164468092	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	164468092	C	T	164468092	3	4	32	1	0	0	0	0	1	0	0	0	5913	855	30	3	2033	3	FIGN	2	164468092	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	11999376	164468092	78731281	34	7613											
TTN	7273	genome.wustl.edu	37	chr2	179464488	179464488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttaaaccaggttagtgtcgGgaatggcacacctttaattt	11	14	9	7	1	0	0	0	0	0	0	1	1	0	1	2	3	1	2	2	3	5	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:179464488G>T	ENST00000591111.1	-	239	51441	c.51217C>A	c.(51217-51219)Ccg>Acg	p.P17073T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9774T|TTN_ENST00000589042.1_Missense_Mutation_p.P18714T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16146T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9841T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9649T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17073	Ig-like 102.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAGTGTCGGGAATGGCACA	0.403																																																	0													120	111	114					2																	179464488		1866	4105	5971	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51217C>A	2.37:g.179464488G>T	ENSP00000465570:p.Pro17073Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P16146T	ENST00000591111.1	37	c.48436		2	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509345	0.44660	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90817	0.7116	H	0.98048	4.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.93846	0.7141	9	0.87932	D	0	.	19.6238	0.95670	0.0:0.0:1.0:0.0	.	9649;9774;9841;17073	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	16146;9649;9841;9774;9647	ENSP00000343764:P16146T;ENSP00000434586:P9649T;ENSP00000340554:P9841T;ENSP00000352154:P9774T	ENSP00000340554:P9841T	P	-	1	0	TTN	179172733	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.793000	0.99091	2.642000	0.89623	0.557000	0.71058	CCG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	30	0	G	NM_133378		179464488	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	179464488	G	T	179464488	3	4	32	1	0	0	0	0	1	0	0	0	16784	1232	43	3	51849	3	TTN	2	179464488	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	14996396	179464488	63734885	35	7614											
TTN	7273	genome.wustl.edu	37	chr2	179474466	179474466	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaggttcactaataccCgcggcgttctctgctcgcac	8	9	10	14	5	2	1	1	0	1	1	4	2	2	1	1	2	2	4	1	2	3	4	rs2288566	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:179474466C>A	ENST00000591111.1	-	222	46985	c.46761G>T	c.(46759-46761)gcG>gcT	p.A15587A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.A8288A|TTN_ENST00000589042.1_Silent_p.A17228A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.A14660A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.A8355A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.A8163A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15587	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTAATACCCGCGGCGTTCT	0.463																																																	0													216	207	210					2																	179474466		1864	4099	5963	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46761G>T	2.37:g.179474466C>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A14660	ENST00000591111.1	37	c.43980		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	33	0	C	NM_133378		179474466	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.107	A	A	179474466	C	A	179474466	2	1	32	1	0	0	0	0	0	0	0	1	16784	639	23	2		2	TTN	2	179474466	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	9978	179474466	63724907	36	7615											
FSIP2	401024	genome.wustl.edu	37	chr2	186656763	186656763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagacacacatgaagcaTcatttctgtctgctttatat	12	13	6	10	0	3	2	1	1	2	1	3	3	3	2	1	0	2	2	1	0	3	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:186656763T>C	ENST00000424728.1	+	16	4900	c.4900T>C	c.(4900-4902)Tca>Cca	p.S1634P	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.S1723P|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1634										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ACATGAAGCATCATTTCTGTC	0.333																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.4900T>C	2.37:g.186656763T>C	ENSP00000401306:p.Ser1634Pro		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.S1723P	ENST00000424728.1	37	c.5167		2	.	.	.	.	.	.	.	.	.	.	T	5.008	0.187219	0.09547	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.47177	0.85;0.86	5.09	1.39	0.22231	.	0.986718	0.08249	N	0.974884	T	0.37293	0.0998	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.35151	-0.9800	8	0.41790	T	0.15	.	3.0903	0.06291	0.1873:0.5498:0.0:0.2629	.	.	.	.	P	1723;1634;1634	ENSP00000344403:S1723P;ENSP00000401306:S1634P	ENSP00000321903:S1634P	S	+	1	0	FSIP2	186365008	0.001000	0.12720	0.000000	0.03702	0.046000	0.14306	0.483000	0.22292	0.051000	0.15978	0.528000	0.53228	TCA	FSIP2	-	NULL	ENSG00000188738		0.333	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	9	0	T	NM_173651		186656763	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.000	C	C	186656763	T	C	186656763	3	2	32	1	0	0	0	0	1	0	0	0	6099	1435	50	4	5229	4	FSIP2	2	186656763	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	7182297	186656763	56542610	37	7616											
PLCL1	5334	genome.wustl.edu	37	chr2	198953678	198953678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcggctcatcaccagtGacaatactccttcagtctca	10	11	5	15	1	5	1	4	1	2	0	8	1	6	1	2	1	1	1	2	1	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:198953678G>T	ENST00000428675.1	+	3	3210	c.2812G>T	c.(2812-2814)Gac>Tac	p.D938Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.D840Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	938					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATCACCAGTGACAATACTCC	0.463																																																	0													287	275	279					2																	198953678		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2812G>T	2.37:g.198953678G>T	ENSP00000402861:p.Asp938Tyr		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D938Y	ENST00000428675.1	37	c.2812	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759526	0.89932	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18960	2.18;2.21	5.13	5.13	0.70059	.	0.094092	0.46442	D	0.000286	T	0.40272	0.1110	M	0.75447	2.3	0.80722	D	1	D;P	0.55605	0.972;0.897	P;P	0.52710	0.707;0.492	T	0.19582	-1.0301	9	.	.	.	.	18.7752	0.91908	0.0:0.0:1.0:0.0	.	938;864	Q15111;B4DYZ4	PLCL1_HUMAN;.	Y	938;840	ENSP00000402861:D938Y;ENSP00000414138:D840Y	.	D	+	1	0	PLCL1	198661923	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.643000	0.98464	2.661000	0.90470	0.650000	0.86243	GAC	PLCL1	-	NULL	ENSG00000115896		0.463	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	38	0	G	NM_006226		198953678	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	36.21	37	21	SNP	1.000	T	T	198953678	G	T	198953678	3	4	32	1	0	0	0	0	1	0	0	0	12078	1290	45	3	2822	3	PLCL1	2	198953678	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	12296915	198953678	44245695	38	7617											
MARCH4	57574	genome.wustl.edu	37	chr2	217234657	217234657	+	Frame_Shift_Del	DEL	G	G	-																															tccacagaagaaggtggcaaGgggggtggaggtggcacagg																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:217234657delG	ENST00000273067.4	-	1	2093	c.327delC	c.(325-327)cccfs	p.P109fs		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	109	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAGGTGGCAAGGGGGGTGGAG	0.667																																																	0													13	14	14					2																	217234657		2200	4298	6498	SO:0001589	frameshift_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.327delC	2.37:g.217234657delG	ENSP00000273067:p.Pro109fs		Q4KMN7|Q86WR8	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.L110fs	ENST00000273067.4	37	c.327	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.667	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2		0	25	0	G	NM_020814		217234657	-1	tier1		no_errors	ENST00000273067	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.997	-	-	217234657	G	-	217234657	7	5	32	1	0	1	0	1	0	0	0	0	9341	987	35	0	921	0	MARCH4	2	217234657	Frame_Shift_Del	DEL	G	TCGA-IG-A97H-01A-11D-A387-09	18280979	217234657	25964716	39	7618											
ATG4B	23192	genome.wustl.edu	37	chr2	242606219	242606219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgcgcctggggctcaCggacatcaacgaggcctacg	7	6	12	16	4	2	0	2	0	0	0	3	2	3	1	4	4	3	1	4	4	2	1	rs369000453		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:242606219C>G	ENST00000404914.3	+	8	801	c.698C>G	c.(697-699)aCg>aGg	p.T233R	ATG4B_ENST00000402096.1_Missense_Mutation_p.T159R|ATG4B_ENST00000474739.2_Missense_Mutation_p.T219R|ATG4B_ENST00000396411.3_Missense_Mutation_p.T159R|ATG4B_ENST00000405546.3_Missense_Mutation_p.T233R	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	233					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CTGGGGCTCACGGACATCAAC	0.637																																					Melanoma(78;458 1323 6342 12171 39523)												0													30	33	32					2																	242606219		2138	4227	6365	SO:0001583	missense	0			AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.698C>G	2.37:g.242606219C>G	ENSP00000384259:p.Thr233Arg		B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	pfam_Peptidase_C54	p.T233R	ENST00000404914.3	37	c.698	CCDS46564.1	2	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745354	0.69418	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000402096;ENST00000404914;ENST00000474739;ENST00000396411;ENST00000400771;ENST00000311517;ENST00000428861	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.79	4.89	0.63831	.	0.147911	0.56097	D	0.000022	T	0.58637	0.2136	M	0.65975	2.015	0.49483	D	0.999795	P;D;D;B;P	0.61080	0.953;0.981;0.989;0.179;0.933	P;P;P;B;P	0.58970	0.831;0.849;0.831;0.36;0.77	T	0.63010	-0.6732	10	0.62326	D	0.03	-18.0144	15.0116	0.71555	0.0:0.8581:0.1419:0.0	.	219;350;321;233;159	F5H7P2;B4DZK0;Q9Y4P1-2;Q9Y4P1;Q9Y4P1-4	.;.;.;ATG4B_HUMAN;.	R	233;350;159;233;219;159;182;159;70	ENSP00000383964:T233R;ENSP00000384661:T159R;ENSP00000384259:T233R;ENSP00000442378:T219R;ENSP00000379692:T159R;ENSP00000383582:T182R;ENSP00000404783:T70R	ENSP00000309348:T159R	T	+	2	0	ATG4B	242254892	0.997000	0.39634	0.655000	0.29622	0.707000	0.40811	3.033000	0.49743	1.409000	0.46915	0.655000	0.94253	ACG	ATG4B	-	pfam_Peptidase_C54	ENSG00000168397		0.637	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4B	HGNC	protein_coding	OTTHUMT00000322967.3		0	12	0	C	NM_013325		242606219	1			no_errors	ENST00000404914	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.932	G	G	242606219	C	G	242606219	3	3	32	1	0	0	0	0	1	0	0	0	1098	536	19	5	728	5	ATG4B	2	242606219	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	25371562	242606219	593154	40	7619											
ING5	84289	genome.wustl.edu	37	chr2	242662678	242662678	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccttaccacgaaacccaaAggaaaatggtgagtgtgggg	14	6	13	8	1	0	1	0	1	0	0	0	4	0	2	3	4	2	0	3	4	5	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr2:242662678A>G	ENST00000313552.6	+	7	698	c.672A>G	c.(670-672)aaA>aaG	p.K224K	ING5_ENST00000406941.1_Silent_p.K224K|AC114730.11_ENST00000435195.1_RNA	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	224					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CGAAACCCAAAGGAAAATGGT	0.537																																																	0													214	221	219					2																	242662678		2203	4300	6503	SO:0001819	synonymous_variant	0			AF189286	CCDS33425.1	2q37.3	2013-01-28			ENSG00000168395	ENSG00000168395		"Zinc fingers, PHD-type"	19421	protein-coding gene	gene with protein product		608525				12750254	Standard	NM_032329		Approved	FLJ23842, p28ING5	uc002wcd.3	Q8WYH8	OTTHUMG00000151501	ENST00000313552.6:c.672A>G	2.37:g.242662678A>G			A8K1P3|Q53NU6|Q57Z54|Q9BS30	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K224	ENST00000313552.6	37	c.672	CCDS33425.1	2																																																																																			ING5	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000168395		0.537	ING5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING5	HGNC	protein_coding	OTTHUMT00000322901.3	-	0	73	0	A	NM_032329		242662678	1	tier1	-	no_errors	ENST00000313552	ensembl	human	known	74_37	silent	44.44	45	36	SNP	1.000	G	G	242662678	A	G	242662678	2	3	32	1	0	0	0	0	0	0	0	1	7766	69	3	4		4	ING5	2	242662678	Silent	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	56459	242662678	536695	41	7620											
BRPF1	7862	genome.wustl.edu	37	chr3	9783054	9783054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtcctggcagcggctccgGcatgacttggagcgagctcg	7	7	15	12	4	0	1	0	1	0	0	3	3	2	2	2	4	3	4	2	4	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:9783054G>A	ENST00000457855.1	+	4	1796	c.1785G>A	c.(1783-1785)cgG>cgA	p.R595R	BRPF1_ENST00000424362.1_Silent_p.R595R|BRPF1_ENST00000433861.2_Silent_p.R595R|BRPF1_ENST00000302054.3_Silent_p.R595R|BRPF1_ENST00000383829.2_Silent_p.R595R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	595	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGCGGCTCCGGCATGACTTGG	0.512																																																	0													66	74	71					3																	9783054		2203	4300	6503	SO:0001819	synonymous_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1785G>A	3.37:g.9783054G>A			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R595	ENST00000457855.1	37	c.1785	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.512	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	-	0	33	0	G	NM_001003694		9783054	1	tier1	-	no_errors	ENST00000383829	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	A	A	9783054	G	A	9783054	2	1	32	1	0	0	0	0	0	0	0	1	1524	1190	42	3		3	BRPF1	3	9783054	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		9783054	188239376	42	7621											
DYNC1LI1	51143	genome.wustl.edu	37	chr3	32569958	32569958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgactttttggtggatggtGgtaaaccactgcttccacct	7	14	10	10	0	0	1	0	1	0	0	1	2	1	2	3	4	2	2	3	4	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:32569958G>T	ENST00000273130.4	-	12	1545	c.1442C>A	c.(1441-1443)cCa>cAa	p.P481Q	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.P365Q	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	481					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GGTGGATGGTGGTAAACCACT	0.448																																																	0													71	71	71					3																	32569958		2203	4300	6503	SO:0001583	missense	0			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1442C>A	3.37:g.32569958G>T	ENSP00000273130:p.Pro481Gln		A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.P481Q	ENST00000273130.4	37	c.1442	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	G	5.613	0.297893	0.10622	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.15718	2.4;2.4	5.76	5.76	0.90799	.	0.201338	0.35407	N	0.003227	T	0.12390	0.0301	N	0.05467	-0.045	0.58432	D	0.999998	P;B	0.47034	0.889;0.287	P;B	0.46758	0.526;0.112	T	0.03524	-1.1028	10	0.02654	T	1	-7.1741	19.975	0.97300	0.0:0.0:1.0:0.0	.	365;481	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	Q	481;365	ENSP00000273130:P481Q;ENSP00000407279:P365Q	ENSP00000273130:P481Q	P	-	2	0	DYNC1LI1	32544962	1.000000	0.71417	0.988000	0.46212	0.390000	0.30446	7.088000	0.76901	2.724000	0.93272	0.585000	0.79938	CCA	DYNC1LI1	-	pfam_Dynein_light_int_chain	ENSG00000144635		0.448	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	-	0	40	0	G	NM_016141		32569958	-1	tier1	-	no_errors	ENST00000273130	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	32569958	G	T	32569958	3	4	32	1	0	0	0	0	1	0	0	0	4858	1348	47	3	137	3	DYNC1LI1	3	32569958	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	22786904	32569958	165452472	43	7622											
ABHD5	51099	genome.wustl.edu	37	chr3	43753309	43753309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccttgggagcagcattGactccctttaaccctttagc	9	11	9	12	0	0	2	0	1	0	1	1	3	1	3	3	1	5	2	3	1	2	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:43753309G>T	ENST00000458276.2	+	4	738	c.615G>T	c.(613-615)ttG>ttT	p.L205F		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	205					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|negative regulation of sequestering of triglyceride (GO:0010891)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|lysophosphatidic acid acyltransferase activity (GO:0042171)			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GAGCAGCATTGACTCCCTTTA	0.463																																																	0													173	157	162					3																	43753309		2203	4300	6503	SO:0001583	missense	0			AF007132	CCDS2711.1	3p21.33	2012-05-16			ENSG00000011198	ENSG00000011198		"Abhydrolase domain containing"	21396	protein-coding gene	gene with protein product		604780				11590543, 18606822	Standard	NM_016006		Approved	CGI-58, NCIE2	uc003cmx.3	Q8WTS1	OTTHUMG00000133039	ENST00000458276.2:c.615G>T	3.37:g.43753309G>T	ENSP00000390849:p.Leu205Phe		B2R9K0|Q9Y369	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1	p.L205F	ENST00000458276.2	37	c.615	CCDS2711.1	3	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729197	0.48833	.	.	ENSG00000011198	ENST00000458276;ENST00000413300	T;D	0.84873	-0.32;-1.91	6.17	5.3	0.74995	.	0.205128	0.42294	D	0.000726	T	0.79082	0.4386	N	0.25094	0.71	0.58432	D	0.999999	B	0.24092	0.097	B	0.33254	0.16	T	0.73745	-0.3886	10	0.26408	T	0.33	-27.4581	15.327	0.74172	0.0663:0.0:0.9337:0.0	.	205	Q8WTS1	ABHD5_HUMAN	F	205;37	ENSP00000390849:L205F;ENSP00000392159:L37F	ENSP00000392159:L37F	L	+	3	2	ABHD5	43728313	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	1.989000	0.40707	1.620000	0.50308	0.655000	0.94253	TTG	ABHD5	-	NULL	ENSG00000011198		0.463	ABHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD5	HGNC	protein_coding	OTTHUMT00000256644.2	-	0	84	0	G	NM_016006		43753309	1	tier1	-	no_errors	ENST00000458276	ensembl	human	known	74_37	missense	43.75	36	28	SNP	1.000	T	T	43753309	G	T	43753309	3	4	32	1	0	0	0	0	1	0	0	0	85	1281	45	3	629	3	ABHD5	3	43753309	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	11183351	43753309	154269121	44	7623											
PBRM1	55193	genome.wustl.edu	37	chr3	52668638	52668638	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggatctgttgtagtgatatGggcattttaatttgctggta	8	17	12	4	1	1	1	0	1	1	0	1	2	1	2	0	3	1	5	0	3	4	7	rs17052357	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:52668638G>T	ENST00000296302.7	-	11	1282	c.1281C>A	c.(1279-1281)ccC>ccA	p.P427P	PBRM1_ENST00000409767.1_Silent_p.P427P|PBRM1_ENST00000410007.1_Silent_p.P427P|PBRM1_ENST00000356770.4_Silent_p.P395P|PBRM1_ENST00000394830.3_Silent_p.P427P|PBRM1_ENST00000409114.3_Silent_p.P427P|PBRM1_ENST00000337303.4_Silent_p.P427P|PBRM1_ENST00000409057.1_Silent_p.P427P			Q86U86	PB1_HUMAN	polybromo 1	427	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTAGTGATATGGGCATTTTAA	0.353			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													162	182	175					3																	52668638		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1281C>A	3.37:g.52668638G>T			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.P427	ENST00000296302.7	37	c.1281		3																																																																																			PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000163939		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1		0	38	0	G	NM_018165		52668638	-1			no_errors	ENST00000296302	ensembl	human	known	74_37	silent	6.67	42	3	SNP	1.000	T	T	52668638	G	T	52668638	2	4	32	1	0	0	0	0	0	0	0	1	11530	1335	47	3		3	PBRM1	3	52668638	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	8915329	52668638	145353792	45	7624											
EPHA3	2042	genome.wustl.edu	37	chr3	89390109	89390109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattggatggtaatatgaaGtgtgctaagtgcccgcctca	10	11	12	8	1	1	1	1	1	0	0	1	2	1	2	2	2	2	3	2	2	4	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:89390109G>T	ENST00000336596.2	+	4	1083	c.858G>T	c.(856-858)aaG>aaT	p.K286N	EPHA3_ENST00000452448.2_Missense_Mutation_p.K286N|EPHA3_ENST00000494014.1_Missense_Mutation_p.K286N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	286	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTAATATGAAGTGTGCTAAGT	0.403										TSP Lung(6;0.00050)																																							0													163	157	159					3																	89390109		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.858G>T	3.37:g.89390109G>T	ENSP00000337451:p.Lys286Asn		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K286N	ENST00000336596.2	37	c.858	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866332	0.17250	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.18338	2.22;2.22;2.22	6.17	0.957	0.19613	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.094256	0.85682	D	0.000000	T	0.15955	0.0384	L	0.56769	1.78	0.48185	D	0.999603	P;B	0.39717	0.684;0.356	B;B	0.38378	0.272;0.185	T	0.03673	-1.1014	9	.	.	.	.	9.4785	0.38887	0.4351:0.0:0.5649:0.0	.	286;286	P29320;P29320-2	EPHA3_HUMAN;.	N	286	ENSP00000337451:K286N;ENSP00000399926:K286N;ENSP00000419190:K286N	.	K	+	3	2	EPHA3	89472799	1.000000	0.71417	0.706000	0.30403	0.888000	0.51559	1.012000	0.29924	-0.108000	0.12066	0.655000	0.94253	AAG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom	ENSG00000044524		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	-	0	62	0	G	NM_005233		89390109	1	tier1	-	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	T	T	89390109	G	T	89390109	3	4	32	1	0	0	0	0	1	0	0	0	5184	1020	36	3	872	3	EPHA3	3	89390109	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	36721471	89390109	108632321	46	7625											
TBC1D23	55773	genome.wustl.edu	37	chr3	100029351	100029351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtcagggaaaaagttatCagttttatagagaatacatc	17	12	8	4	0	2	1	2	0	0	1	3	3	2	2	0	1	1	2	0	1	8	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:100029351C>T	ENST00000394144.4	+	14	1525	c.1518C>T	c.(1516-1518)atC>atT	p.I506I	TBC1D23_ENST00000344949.5_Silent_p.I506I|TBC1D23_ENST00000475134.1_Silent_p.I369I|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	506					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAAAAGTTATCAGTTTTATAG	0.328																																																	0													108	110	109					3																	100029351		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1518C>T	3.37:g.100029351C>T			B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.I506	ENST00000394144.4	37	c.1518	CCDS56265.1	3																																																																																			TBC1D23	-	NULL	ENSG00000036054		0.328	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	-	0	45	0	C	NM_018309		100029351	1	tier1	-	no_errors	ENST00000394144	ensembl	human	known	74_37	silent	20.51	62	16	SNP	1.000	T	T	100029351	C	T	100029351	2	4	32	1	0	0	0	0	0	0	0	1	15660	816	29	3		3	TBC1D23	3	100029351	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	10639242	100029351	97993079	47	7626											
IMPG2	50939	genome.wustl.edu	37	chr3	100963611	100963611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagaaagaaaatcttctgActcttcaacattggctaatc	16	12	5	8	0	4	3	1	1	3	2	5	3	4	3	0	1	1	1	0	1	7	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:100963611A>G	ENST00000193391.7	-	13	1751	c.1564T>C	c.(1564-1566)Tca>Cca	p.S522P		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	522					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AAATCTTCTGACTCTTCAACA	0.343																																																	0													55	54	54					3																	100963611		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1564T>C	3.37:g.100963611A>G	ENSP00000193391:p.Ser522Pro		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S522P	ENST00000193391.7	37	c.1564	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	A	7.957	0.746077	0.15710	.	.	ENSG00000081148	ENST00000193391	T	0.27104	1.69	5.66	1.67	0.24075	.	0.826203	0.10830	N	0.629480	T	0.14356	0.0347	N	0.14661	0.345	0.20074	N	0.999935	B;B	0.15141	0.012;0.007	B;B	0.09377	0.004;0.004	T	0.28106	-1.0054	10	0.30078	T	0.28	0.1145	8.9685	0.35892	0.756:0.0:0.244:0.0	.	522;522	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	P	522	ENSP00000193391:S522P	ENSP00000193391:S522P	S	-	1	0	IMPG2	102446301	0.317000	0.24589	0.783000	0.31826	0.614000	0.37383	0.695000	0.25527	0.451000	0.26802	0.533000	0.62120	TCA	IMPG2	-	NULL	ENSG00000081148		0.343	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0	28	0	A			100963611	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.405	G	G	100963611	A	G	100963611	3	3	32	1	0	0	0	0	1	0	0	0	7756	275	10	4	2189	4	IMPG2	3	100963611	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	934260	100963611	97058819	48	7627											
SLC41A3	54946	genome.wustl.edu	37	chr3	125741672	125741672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccaaagccagaatggaCagtgtgatgaggtctcccag	13	7	11	10	0	1	3	0	2	1	1	2	4	1	4	3	2	2	0	3	2	3	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:125741672C>T	ENST00000315891.6	-	6	940	c.702G>A	c.(700-702)ctG>ctA	p.L234L	SLC41A3_ENST00000383598.2_Silent_p.L208L|SLC41A3_ENST00000346785.5_Silent_p.L198L|SLC41A3_ENST00000360370.4_Silent_p.L234L|SLC41A3_ENST00000508835.1_Silent_p.L117L|SLC41A3_ENST00000514023.1_5'Flank	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCAGAATGGACAGTGTGATGA	0.532																																																	0													187	181	183					3																	125741672		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.702G>A	3.37:g.125741672C>T			A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Silent	SNP	pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase	p.L234	ENST00000315891.6	37	c.702	CCDS33843.1	3																																																																																			SLC41A3	-	pfam_SLC41_membr_dom	ENSG00000114544		0.532	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1		0	58	0	C	NM_017836		125741672	-1			no_errors	ENST00000315891	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.989	T	T	125741672	C	T	125741672	2	4	32	1	0	0	0	0	0	0	0	1	14676	465	17	3		3	SLC41A3	3	125741672	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	24778061	125741672	72280758	49	7628											
CPNE4	131034	genome.wustl.edu	37	chr3	131442353	131442353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcccattgtggttgctGctgatgtcatggacttcaaa	8	14	10	9	0	3	1	3	1	0	0	3	2	3	2	1	2	3	3	1	2	1	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:131442353G>T	ENST00000512055.1	-	7	2423	c.297C>A	c.(295-297)agC>agA	p.S99R	CPNE4_ENST00000429747.1_Missense_Mutation_p.S99R|CPNE4_ENST00000512332.1_Missense_Mutation_p.S117R|CPNE4_ENST00000511604.1_Missense_Mutation_p.S99R|CPNE4_ENST00000502818.1_Missense_Mutation_p.S117R			Q96A23	CPNE4_HUMAN	copine IV	99	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGTGGTTGCTGCTGATGTCAT	0.527																																																	0													218	186	197					3																	131442353		2203	4300	6503	SO:0001583	missense	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.297C>A	3.37:g.131442353G>T	ENSP00000421705:p.Ser99Arg		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.S117R	ENST00000512055.1	37	c.351	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631215	0.67015	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881	T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.48	3.69	0.42338	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.035549	0.85682	D	0.000000	T	0.60379	0.2264	L	0.29908	0.895	0.50467	D	0.999879	B;B	0.25486	0.127;0.086	B;B	0.38225	0.268;0.128	T	0.63051	-0.6723	10	0.72032	D	0.01	-15.8349	11.652	0.51295	0.1433:0.0:0.8567:0.0	.	117;99	Q96A23-2;Q96A23	.;CPNE4_HUMAN	R	99;99;117;99;117;99	ENSP00000421705:S99R;ENSP00000411904:S99R;ENSP00000424853:S117R;ENSP00000423811:S99R;ENSP00000421646:S117R;ENSP00000425506:S99R	ENSP00000411904:S99R	S	-	3	2	CPNE4	132925043	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.482000	0.73613	1.333000	0.45449	-0.143000	0.13931	AGC	CPNE4	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000196353		0.527	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	-	0	53	0	G	NM_130808		131442353	-1	tier1	-	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	131442353	G	T	131442353	3	4	32	1	0	0	0	0	1	0	0	0	3821	1310	46	3	1432	3	CPNE4	3	131442353	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	5700681	131442353	66580077	50	7629											
P2RY14	9934	genome.wustl.edu	37	chr3	150931563	150931563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgctttgtgccacttcCgtcccagttcacttttcagt	5	17	7	12	1	2	1	2	1	0	0	4	1	4	1	3	0	2	2	3	0	0	6	rs368040389		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:150931563C>T	ENST00000309170.3	-	3	854	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.R181Q|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	181					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTGCCACTTCCGTCCCAGTTC	0.383																																																	0								C	GLN/ARG,GLN/ARG,	0,4406		0,0,2203	178	163	168		542,542,	-2.1	0	3		168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	P2RY14,MED12L	NM_001081455.1,NM_014879.3,NM_053002.4	43,43,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,	181/339,181/339,	150931563	1,13005	2203	4300	6503	SO:0001583	missense	0			D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	16442	protein-coding gene	gene with protein product		610116	"G protein-coupled receptor 105"	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.542G>A	3.37:g.150931563C>T	ENSP00000308361:p.Arg181Gln		Q8IYT7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_P2Y14_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R181Q	ENST00000309170.3	37	c.542	CCDS3156.1	3	.	.	.	.	.	.	.	.	.	.	C	8.175	0.792528	0.16258	0.0	1.16E-4	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.37411	1.2;1.2	5.9	-2.09	0.07232	GPCR, rhodopsin-like superfamily (1);	1.478160	0.04719	N	0.418988	T	0.18299	0.0439	N	0.12182	0.205	0.09310	N	1	B	0.15930	0.015	B	0.15052	0.012	T	0.19484	-1.0304	10	0.13470	T	0.59	-2.3534	6.2968	0.21091	0.3502:0.297:0.0:0.3528	.	181	Q15391	P2Y14_HUMAN	Q	181	ENSP00000308361:R181Q;ENSP00000408733:R181Q	ENSP00000308361:R181Q	R	-	2	0	P2RY14	152414253	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.088000	0.01359	-0.306000	0.08818	-0.145000	0.13849	CGG	P2RY14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174944		0.383	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY14	HGNC	protein_coding	OTTHUMT00000357789.1	-	0	27	0	C	NM_014879		150931563	-1	tier1	-	no_errors	ENST00000309170	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.000	T	T	150931563	C	T	150931563	3	4	32	1	0	0	0	0	1	0	0	0	11390	652	23	1	478	1	P2RY14	3	150931563	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	19489210	150931563	47090867	51	7630											
MECOM	2122	genome.wustl.edu	37	chr3	168810878	168810878	+	Frame_Shift_Del	DEL	G	G	-																															ccagttcagaatgaggcgacGatgttgctgtacctgtgtgg																								rs540158912		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:168810878delG	ENST00000464456.1	-	12	3641	c.2441delC	c.(2440-2442)tcgfs	p.S815fs	MECOM_ENST00000433243.2_Frame_Shift_Del_p.S825fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.S824fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.S815fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.S1003fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.S825fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.S824fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.S889fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388																																																	0													105	94	98					3																	168810878		2203	4300	6503	SO:0001589	frameshift_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2441delC	3.37:g.168810878delG	ENSP00000419770:p.Ser815fs		Q13466|Q6FH90	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S1002fs	ENST00000464456.1	37	c.3005	CCDS54669.1	3																																																																																			MECOM	-	NULL	ENSG00000085276		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1		0	64	0	G	NM_005241, NM_004991		168810878	-1	tier1		no_errors	ENST00000494292	ensembl	human	known	74_37	frame_shift_del	29.36	77	32	DEL	1.000	-	-	168810878	G	-	168810878	7	5	32	1	0	1	0	1	0	0	0	0	9460	1059	37	0	703	0	MECOM	3	168810878	Frame_Shift_Del	DEL	G	TCGA-IG-A97H-01A-11D-A387-09	17879315	168810878	29211552	52	7631											
SKIL	6498	genome.wustl.edu	37	chr3	170110118	170110118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagatgaactcagacaGgaacgggaagcaagacagaa	18	3	11	9	1	1	5	1	1	0	4	2	7	2	7	1	2	3	1	1	2	6	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:170110118G>T	ENST00000458537.3	+	6	2677	c.1968G>T	c.(1966-1968)caG>caT	p.Q656H	SKIL_ENST00000259119.4_Missense_Mutation_p.Q656H|SKIL_ENST00000413427.2_Missense_Mutation_p.Q610H|SKIL_ENST00000426052.2_Missense_Mutation_p.Q636H	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	656					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AACTCAGACAGGAACGGGAAG	0.403																																																	0													117	125	122					3																	170110118		2203	4300	6503	SO:0001583	missense	0			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.1968G>T	3.37:g.170110118G>T	ENSP00000415243:p.Gln656His		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.Q656H	ENST00000458537.3	37	c.1968	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054407	0.55218	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.91577	-2.86;-2.86;-2.87;-2.86	6.08	6.08	0.98989	.	0.119810	0.52532	D	0.000073	D	0.84352	0.5453	L	0.42245	1.32	0.38019	D	0.934787	P;B	0.38827	0.649;0.369	B;B	0.32149	0.132;0.141	D	0.84033	0.0360	10	0.33940	T	0.23	-13.1135	10.5332	0.44988	0.0679:0.0:0.7993:0.1329	.	610;656	P12757-3;P12757	.;SKIL_HUMAN	H	656;636;610;656	ENSP00000259119:Q656H;ENSP00000406520:Q636H;ENSP00000400193:Q610H;ENSP00000415243:Q656H	ENSP00000259119:Q656H	Q	+	3	2	SKIL	171592812	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.383000	0.34385	2.894000	0.99253	0.655000	0.94253	CAG	SKIL	-	NULL	ENSG00000136603		0.403	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	-	0	28	0	G	NM_005414		170110118	1	tier1	-	no_errors	ENST00000259119	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	T	T	170110118	G	T	170110118	3	4	32	1	0	0	0	0	1	0	0	0	14403	991	35	3	1990	3	SKIL	3	170110118	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1299240	170110118	27912312	53	7632											
CCDC39	339829	genome.wustl.edu	37	chr3	180372723	180372723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttctctcgtttcctGctttatccttgctaattcct	3	23	3	12	1	2	0	0	0	2	0	7	0	5	0	3	0	2	3	3	0	2	9			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr3:180372723G>T	ENST00000442201.2	-	7	876	c.757C>A	c.(757-759)Cag>Aag	p.Q253K	CCDC39_ENST00000273654.4_Missense_Mutation_p.Q337K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	253					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCGTTTCCTGCTTTATCCTT	0.279																																																	0													118	101	106					3																	180372723		1787	4060	5847	SO:0001583	missense	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.757C>A	3.37:g.180372723G>T	ENSP00000405708:p.Gln253Lys		B4E2H1	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.Q253K	ENST00000442201.2	37	c.757	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036632	0.54896	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.21932	1.98;1.98	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.56396	1.775	0.46011	D	0.998817	D	0.53885	0.963	P	0.52189	0.692	T	0.02004	-1.1231	10	0.15066	T	0.55	-17.7616	19.7555	0.96287	0.0:0.0:1.0:0.0	.	253	Q9UFE4	CCD39_HUMAN	K	337;253	ENSP00000273654:Q337K;ENSP00000405708:Q253K	ENSP00000273654:Q337K	Q	-	1	0	CCDC39	181855417	1.000000	0.71417	0.997000	0.53966	0.432000	0.31715	5.245000	0.65405	2.737000	0.93849	0.563000	0.77884	CAG	CCDC39	-	NULL	ENSG00000145075		0.279	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0	71	0	G	XM_291028		180372723	-1	tier1	-	no_errors	ENST00000442201	ensembl	human	known	74_37	missense	25.66	84	29	SNP	1.000	T	T	180372723	G	T	180372723	3	4	32	1	0	0	0	0	1	0	0	0	2818	1328	46	3	2124	3	CCDC39	3	180372723	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	10262605	180372723	17649707	54	7633											
QDPR	5860	genome.wustl.edu	37	chr4	17506070	17506070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcatccaccttctcttcaCccaagagctttccaacctca	9	12	3	17	0	3	1	2	0	1	1	6	1	5	1	5	0	3	2	5	0	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr4:17506070C>A	ENST00000281243.5	-	3	406	c.227G>T	c.(226-228)gGt>gTt	p.G76V	QDPR_ENST00000513615.1_Missense_Mutation_p.G76V|QDPR_ENST00000508623.1_Missense_Mutation_p.G76V|QDPR_ENST00000428702.2_Missense_Mutation_p.G45V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	76					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						CTTCTCTTCACCCAAGAGCTT	0.458																																																	0													136	127	130					4																	17506070		2203	4300	6503	SO:0001583	missense	0			AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"Short chain dehydrogenase/reductase superfamily / Atypical members"	9752	protein-coding gene	gene with protein product	"6,7-dihydropteridine reductase", "short chain dehydrogenase/reductase family 33C, member 1"	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.227G>T	4.37:g.17506070C>A	ENSP00000281243:p.Gly76Val		A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR	p.G76V	ENST00000281243.5	37	c.227	CCDS3421.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.366302|4.366302	0.82463|0.82463	.|.	.|.	ENSG00000151552|ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623|ENST00000505710	D;D;D;D|.	0.94758|.	-3.51;-2.3;-3.51;-3.51|.	5.5|5.5	5.5|5.5	0.81552|0.81552	NAD(P)-binding domain (1);|.	0.047484|.	0.85682|.	D|.	0.000000|.	D|D	0.82737|0.82737	0.5102|0.5102	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	P;D|.	0.65815|.	0.948;0.995|.	P;P|.	0.62184|.	0.578;0.899|.	D|D	0.84394|0.84394	0.0556|0.0556	10|5	0.62326|.	D|.	0.03|.	-16.9569|-16.9569	18.1678|18.1678	0.89734|0.89734	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	45;76|.	B3KW71;P09417|.	.;DHPR_HUMAN|.	V|L	76;76;45;76|52	ENSP00000422759:G76V;ENSP00000281243:G76V;ENSP00000390944:G45V;ENSP00000426377:G76V|.	ENSP00000281243:G76V|.	G|V	-|-	2|1	0|0	QDPR|QDPR	17115168|17115168	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.734000|0.734000	0.41952|0.41952	6.678000|6.678000	0.74508|0.74508	2.575000|2.575000	0.86900|0.86900	0.563000|0.563000	0.77884|0.77884	GGT|GTG	QDPR	-	pfam_DH_sc/Rdtase_SDR	ENSG00000151552		0.458	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QDPR	HGNC	protein_coding	OTTHUMT00000250372.1	-	0	60	0	C	NM_000320		17506070	-1	tier1	-	no_errors	ENST00000281243	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	A	A	17506070	C	A	17506070	3	1	32	1	0	0	0	0	1	0	0	0	12917	507	18	3	527	3	QDPR	4	17506070	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		17506070	173648206	55	7634											
LGI2	55203	genome.wustl.edu	37	chr4	25013980	25013980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgttgtcatagctccggAaattcatttcaatgtggtcc	10	15	8	8	1	3	0	3	0	0	0	5	1	5	1	2	2	1	2	2	2	4	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr4:25013980A>T	ENST00000382114.4	-	7	982	c.797T>A	c.(796-798)tTc>tAc	p.F266Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	266						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				ATAGCTCCGGAAATTCATTTC	0.507																																																	0													164	135	144					4																	25013980		2203	4300	6503	SO:0001583	missense	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.797T>A	4.37:g.25013980A>T	ENSP00000371548:p.Phe266Tyr		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.F266Y	ENST00000382114.4	37	c.797	CCDS3431.1	4	.	.	.	.	.	.	.	.	.	.	A	28.8	4.947577	0.92593	.	.	ENSG00000153012	ENST00000382114	D	0.98889	-5.21	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.99764	1.1022	10	0.62326	D	0.03	-20.6584	14.6631	0.68888	1.0:0.0:0.0:0.0	.	266	Q8N0V4	LGI2_HUMAN	Y	266	ENSP00000371548:F266Y	ENSP00000371548:F266Y	F	-	2	0	LGI2	24623078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.125000	0.94402	1.922000	0.55676	0.454000	0.30748	TTC	LGI2	-	pfam_EPTP	ENSG00000153012		0.507	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	-	0	63	0	A			25013980	-1	tier1	-	no_errors	ENST00000382114	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T	T	25013980	A	T	25013980	3	4	32	1	0	0	0	0	1	0	0	0	8781	246	9	5	848	5	LGI2	4	25013980	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	7507910	25013980	166140296	56	7635											
TACR3	6870	genome.wustl.edu	37	chr4	104579403	104579403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgggaccttctggccattGcacaaagcagagagtacggc	10	9	12	10	1	1	1	0	0	1	1	1	3	1	2	2	3	3	3	2	3	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr4:104579403G>T	ENST00000304883.2	-	2	846	c.706C>A	c.(706-708)Caa>Aaa	p.Q236K		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	236					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCTGGCCATTGCACAAAGCAG	0.388																																																	0													130	121	124					4																	104579403		2203	4300	6503	SO:0001583	missense	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.706C>A	4.37:g.104579403G>T	ENSP00000303325:p.Gln236Lys		Q0P510	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.Q236K	ENST00000304883.2	37	c.706	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160901	0.38119	.	.	ENSG00000169836	ENST00000304883	T	0.36878	1.23	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.165021	0.50627	D	0.000104	T	0.21674	0.0522	N	0.11698	0.16	0.37341	D	0.910406	B	0.17465	0.022	B	0.22152	0.038	T	0.16482	-1.0401	10	0.10377	T	0.69	.	14.4042	0.67071	0.0:0.242:0.758:0.0	.	236	P29371	NK3R_HUMAN	K	236	ENSP00000303325:Q236K	ENSP00000303325:Q236K	Q	-	1	0	TACR3	104798852	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.826000	0.55738	2.885000	0.99019	0.655000	0.94253	CAA	TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_NK1_rcpt	ENSG00000169836		0.388	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	-	0	70	0	G	NM_001059		104579403	-1	tier1	-	no_errors	ENST00000304883	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	104579403	G	T	104579403	3	4	32	1	0	0	0	0	1	0	0	0	15554	1328	46	3	707	3	TACR3	4	104579403	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	79565423	104579403	86574873	57	7636											
AGXT2L1	64850	genome.wustl.edu	37	chr4	109674127	109674127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggctgagtctgcatggTcttctctatattttcctctg	5	17	8	11	0	4	1	0	1	4	0	6	1	5	1	1	2	1	2	1	2	2	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr4:109674127T>C	ENST00000296486.3	-	6	696	c.542A>G	c.(541-543)gAc>gGc	p.D181G	ETNPPL_ENST00000510706.1_Missense_Mutation_p.D141G|ETNPPL_ENST00000411864.2_Missense_Mutation_p.D175G|ETNPPL_ENST00000512646.1_Missense_Mutation_p.D123G	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	181						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										GTCTGCATGGTCTTCTCTATA	0.368																																																	0													159	149	152					4																	109674127		2203	4300	6503	SO:0001583	missense	0			AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"alanine-glyoxylate aminotransferase 2-like 1"	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.542A>G	4.37:g.109674127T>C	ENSP00000296486:p.Asp181Gly		B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.D181G	ENST00000296486.3	37	c.542	CCDS3682.1	4	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816714	0.50633	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.46	3.04	0.35103	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.179615	0.64402	D	0.000017	T	0.39064	0.1064	M	0.67397	2.05	0.58432	D	0.999994	B;B;B	0.12630	0.003;0.002;0.006	B;B;B	0.23419	0.021;0.012;0.046	T	0.13629	-1.0502	9	.	.	.	-11.0279	8.7821	0.34798	0.0:0.1577:0.0:0.8423	.	123;175;181	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	G	181;175;123;141	ENSP00000296486:D181G;ENSP00000392269:D175G;ENSP00000427065:D123G;ENSP00000423240:D141G	.	D	-	2	0	AGXT2L1	109893576	1.000000	0.71417	0.953000	0.39169	0.901000	0.52897	5.139000	0.64801	0.370000	0.24538	0.533000	0.62120	GAC	ETNPPL	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	ENSG00000164089		0.368	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETNPPL	HGNC	protein_coding	OTTHUMT00000363508.1	-	0	61	0	T	NM_031279		109674127	-1	tier1	-	no_errors	ENST00000296486	ensembl	human	known	74_37	missense	38.89	44	28	SNP	1.000	C	C	109674127	T	C	109674127	3	2	32	1	0	0	0	0	1	0	0	0	406	1667	58	4	989	4	AGXT2L1	4	109674127	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	5094724	109674127	81480149	58	7637											
ALPK1	80216	genome.wustl.edu	37	chr4	113352696	113352696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagccttctcaaaatcagCcacagcaacagatgcccttg	12	8	8	13	0	2	1	2	0	1	1	3	2	2	2	3	1	5	1	3	1	3	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr4:113352696C>T	ENST00000458497.1	+	11	2272	c.1993C>T	c.(1993-1995)Cca>Tca	p.P665S	ALPK1_ENST00000504176.2_Missense_Mutation_p.P587S|ALPK1_ENST00000177648.9_Missense_Mutation_p.P665S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	665							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCAAAATCAGCCACAGCAACA	0.493																																																	0													72	72	72					4																	113352696		2203	4300	6503	SO:0001583	missense	0			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1993C>T	4.37:g.113352696C>T	ENSP00000398048:p.Pro665Ser		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.P665S	ENST00000458497.1	37	c.1993	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	C	6.974	0.549783	0.13374	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02323	4.42;4.42;4.34	4.96	4.1	0.47936	.	2.279620	0.01654	N	0.024721	T	0.03564	0.0102	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26258	0.145;0.09;0.09	B;B;B	0.21708	0.036;0.016;0.01	T	0.35226	-0.9797	10	0.66056	D	0.02	0.4611	8.2273	0.31577	0.0:0.7986:0.0:0.2014	.	587;587;665	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	S	665;665;587	ENSP00000398048:P665S;ENSP00000177648:P665S;ENSP00000426044:P587S	ENSP00000177648:P665S	P	+	1	0	ALPK1	113572145	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	1.707000	0.37888	1.287000	0.44583	0.655000	0.94253	CCA	ALPK1	-	NULL	ENSG00000073331		0.493	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	-	0	60	0	C	NM_025144		113352696	1	tier1	-	no_errors	ENST00000177648	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.002	T	T	113352696	C	T	113352696	3	4	32	1	0	0	0	0	1	0	0	0	544	739	26	3	2027	3	ALPK1	4	113352696	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	3678569	113352696	77801580	59	7638											
NDST4	64579	genome.wustl.edu	37	chr4	115997378	115997378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccaaaagttcaagttgttgCcaaaaagtactctctgaatt	14	12	7	8	0	2	1	1	1	1	0	3	1	2	1	2	0	2	4	2	0	7	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr4:115997378C>T	ENST00000264363.2	-	2	1493	c.815G>A	c.(814-816)gGc>gAc	p.G272D		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	272	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.G272D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAAGTTGTTGCCAAAAAGTAC	0.448																																																	1	Substitution - Missense(1)	skin(1)											186	171	176					4																	115997378		2203	4300	6503	SO:0001583	missense	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.815G>A	4.37:g.115997378C>T	ENSP00000264363:p.Gly272Asp		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.G272D	ENST00000264363.2	37	c.815	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530501	0.85706	.	.	ENSG00000138653	ENST00000264363	T	0.56275	0.47	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.84050	0.0369	10	0.87932	D	0	.	19.5505	0.95315	0.0:1.0:0.0:0.0	.	272	Q9H3R1	NDST4_HUMAN	D	272	ENSP00000264363:G272D	ENSP00000264363:G272D	G	-	2	0	NDST4	116216827	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.770000	0.85390	2.610000	0.88304	0.591000	0.81541	GGC	NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.448	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1		0	33	0	C	NM_022569		115997378	-1			no_errors	ENST00000264363	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	115997378	C	T	115997378	3	4	32	1	0	0	0	0	1	0	0	0	10297	739	26	3	1855	3	NDST4	4	115997378	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	2644682	115997378	75156898	60	7639											
KIAA0947	23379	genome.wustl.edu	37	chr5	5462676	5462676	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcttcagcattttgcAgaaaacatggagagacacag	13	12	8	8	0	2	2	1	0	1	2	2	4	2	3	0	1	3	2	0	1	2	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:5462676A>C	ENST00000296564.7	+	13	3451	c.3229A>C	c.(3229-3231)Aga>Cga	p.R1077R		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1077					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGCATTTTGCAGAAAACATGG	0.463																																																	0													113	112	112					5																	5462676		1919	4144	6063	SO:0001819	synonymous_variant	0																														ENST00000296564.7:c.3229A>C	5.37:g.5462676A>C			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.R1077	ENST00000296564.7	37	c.3229	CCDS47187.1	5																																																																																			KIAA0947	-	NULL	ENSG00000164151		0.463	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	26	0	A			5462676	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	silent	40.00	45	30	SNP	0.000	C	C	5462676	A	C	5462676	2	2	32	1	0	0	0	0	0	0	0	1	8229	180	7	4		4	KIAA0947	5	5462676	Silent	SNP	A	TCGA-IG-A97H-01A-11D-A387-09		5462676	175452584	61	7640											
ADCY2	108	genome.wustl.edu	37	chr5	7820737	7820737	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagaagccacaatatgatAtctggggcaacactgtcaat	14	9	8	10	0	3	2	2	1	1	1	3	2	3	2	1	2	2	1	1	2	6	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:7820737A>T	ENST00000338316.4	+	24	3147	c.3058A>T	c.(3058-3060)Atc>Ttc	p.I1020F	ADCY2_ENST00000537121.1_Missense_Mutation_p.I840F	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1020					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACAATATGATATCTGGGGCAA	0.478																																																	0													131	114	120					5																	7820737		2203	4300	6503	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3058A>T	5.37:g.7820737A>T	ENSP00000342952:p.Ile1020Phe		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I1020F	ENST00000338316.4	37	c.3058	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	A	32	5.116514	0.94385	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.82433	-1.61;-1.61	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94352	0.7580	10	0.87932	D	0	.	15.4421	0.75190	1.0:0.0:0.0:0.0	.	840;1020	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	1020;853;840	ENSP00000342952:I1020F;ENSP00000444803:I840F	ENSP00000342952:I1020F	I	+	1	0	ADCY2	7873737	1.000000	0.71417	0.930000	0.37139	0.986000	0.74619	9.054000	0.93866	2.054000	0.61138	0.533000	0.62120	ATC	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000078295		0.478	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0	38	0	A	NM_020546		7820737	1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	27.91	62	24	SNP	1.000	T	T	7820737	A	T	7820737	3	4	32	1	0	0	0	0	1	0	0	0	294	449	16	5	3152	5	ADCY2	5	7820737	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	2358061	7820737	173094523	62	7641											
UGT3A1	133688	genome.wustl.edu	37	chr5	35965642	35965642	+	Frame_Shift_Del	DEL	G	G	-																															aaactggcctagagccttctGggaaatgctccttgatggtg																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:35965642delG	ENST00000274278.3	-	4	1046	c.689delC	c.(688-690)ccafs	p.P230fs	UGT3A1_ENST00000503189.1_Frame_Shift_Del_p.P230fs|UGT3A1_ENST00000507113.1_Frame_Shift_Del_p.P196fs|UGT3A1_ENST00000333811.4_Frame_Shift_Del_p.P176fs|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	230						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAGCCTTCTGGGAAATGCTC	0.463																																																	0													121	123	123					5																	35965642		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.689delC	5.37:g.35965642delG	ENSP00000274278:p.Pro230fs		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Frame_Shift_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.P230fs	ENST00000274278.3	37	c.689	CCDS3913.1	5																																																																																			UGT3A1	-	pfam_UDP_glucos_trans	ENSG00000145626		0.463	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	HGNC	protein_coding	OTTHUMT00000253770.2		0	88	0	G	NM_152404		35965642	-1			no_errors	ENST00000274278	ensembl	human	known	74_37	frame_shift_del	8.89	123	12	DEL	0.584	0	-	35965642	G	-	35965642	7	5	32	1	0	1	0	1	0	0	0	0	17012	1348	47	0	980	0	UGT3A1	5	35965642	Frame_Shift_Del	DEL	G	TCGA-IG-A97H-01A-11D-A387-09	28144905	35965642	144949618	63	7642											
C7	730	genome.wustl.edu	37	chr5	40959629	40959629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaacaagaagccgtgaatGcaataacccacctcccagtg	16	5	8	12	1	0	2	0	1	0	1	1	3	1	2	4	0	4	1	4	0	7	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:40959629G>T	ENST00000313164.9	+	12	1927	c.1568G>T	c.(1567-1569)tGc>tTc	p.C523F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	523	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AGCCGTGAATGCAATAACCCA	0.527																																																	0													60	68	65					5																	40959629		1928	4130	6058	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1568G>T	5.37:g.40959629G>T	ENSP00000322061:p.Cys523Phe		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.C523F	ENST00000313164.9	37	c.1568	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504367	0.85176	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.25414	1.8	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82186	-0.0582	10	0.87932	D	0	-13.8336	19.0801	0.93178	0.0:0.0:1.0:0.0	.	523	P10643	CO7_HUMAN	F	523;363	ENSP00000322061:C523F	ENSP00000322061:C523F	C	+	2	0	C7	40995386	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	7.081000	0.76844	2.523000	0.85059	0.462000	0.41574	TGC	C7	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112936		0.527	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	-	0	33	0	G			40959629	1	tier1	-	no_errors	ENST00000313164	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	40959629	G	T	40959629	3	4	32	1	0	0	0	0	1	0	0	0	2382	1319	46	3	1614	3	C7	5	40959629	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	4993987	40959629	139955631	64	7643											
MBLAC2	153364	genome.wustl.edu	37	chr5	89770101	89770101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgggcgtaccactcgagCgccgacatgctgggcagggg	6	7	17	11	4	0	0	0	0	0	0	1	2	0	0	2	4	3	3	2	4	1	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:89770101C>T	ENST00000316610.6	-	1	484	c.9G>A	c.(7-9)gcG>gcA	p.A3A	MBLAC2_ENST00000514906.1_Silent_p.A3A|POLR3G_ENST00000399107.1_5'Flank|POLR3G_ENST00000514483.1_5'Flank|POLR3G_ENST00000504930.1_5'Flank	NM_203406.1	NP_981951	Q68D91	MBLC2_HUMAN	metallo-beta-lactamase domain containing 2	3						extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(1)|liver(1)|lung(3)	5						ACCACTCGAGCGCCGACATGC	0.627																																																	0													28	25	26					5																	89770101		2203	4300	6503	SO:0001819	synonymous_variant	0			BC038230	CCDS4067.1	5q14.3	2009-04-08	2009-04-08		ENSG00000176055	ENSG00000176055			33711	protein-coding gene	gene with protein product							Standard	NM_203406		Approved	DKFZp686P15118, MGC46734	uc003kjp.3	Q68D91	OTTHUMG00000131327	ENST00000316610.6:c.9G>A	5.37:g.89770101C>T			D6RJI1|Q8IY16|Q8N8D8	Silent	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.A3	ENST00000316610.6	37	c.9	CCDS4067.1	5																																																																																			MBLAC2	-	NULL	ENSG00000176055		0.627	MBLAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC2	HGNC	protein_coding	OTTHUMT00000254098.2	-	0	31	0	C	NM_203406		89770101	-1	tier1	-	no_errors	ENST00000316610	ensembl	human	known	74_37	silent	36.84	24	14	SNP	1.000	T	T	89770101	C	T	89770101	2	4	32	1	0	0	0	0	0	0	0	1	9390	755	27	1		1	MBLAC2	5	89770101	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	48810472	89770101	91145159	65	7644											
SEPT8	23176	genome.wustl.edu	37	chr5	132096666	132096666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtggacccgcttcaggtGctcaaacttctcatggagct	7	11	11	12	1	3	0	3	0	1	0	4	2	3	2	1	4	3	3	1	4	1	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:132096666G>T	ENST00000378719.2	-	9	1351	c.1114C>A	c.(1114-1116)Cac>Aac	p.H372N	SEPT8_ENST00000378706.1_Missense_Mutation_p.H372N|SEPT8_ENST00000378701.1_Missense_Mutation_p.H370N|SEPT8_ENST00000378721.4_Missense_Mutation_p.H370N|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000296873.7_Missense_Mutation_p.H372N|SEPT8_ENST00000458488.2_Missense_Mutation_p.H372N|SEPT8_ENST00000378699.2_Missense_Mutation_p.H312N|SEPT8_ENST00000448933.1_Missense_Mutation_p.H312N	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	372					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.H372N(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCTTCAGGTGCTCAAACTTC	0.622																																																	1	Substitution - Missense(1)	ovary(1)											81	85	84					5																	132096666		1985	4146	6131	SO:0001583	missense	0			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1114C>A	5.37:g.132096666G>T	ENSP00000367991:p.His372Asn		A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.H372N	ENST00000378719.2	37	c.1114	CCDS43358.1	5	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717061	0.48622	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.34	3.47	0.39725	.	0.113488	0.64402	D	0.000008	T	0.73659	0.3615	L	0.29908	0.895	0.39396	D	0.966504	B;B;B;B	0.29571	0.016;0.033;0.249;0.058	B;B;B;B	0.25614	0.009;0.013;0.062;0.03	T	0.73936	-0.3825	10	0.49607	T	0.09	.	14.3863	0.66947	0.0:0.0:0.7314:0.2686	.	370;370;372;372	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	N	372;370;372;312;372;312;370;372	ENSP00000367991:H372N;ENSP00000367993:H370N;ENSP00000296873:H372N;ENSP00000399840:H312N;ENSP00000367978:H372N;ENSP00000367971:H312N;ENSP00000367973:H370N;ENSP00000394766:H372N	ENSP00000296873:H372N	H	-	1	0	SEPT8	132124565	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.807000	0.86032	1.233000	0.43693	0.655000	0.94253	CAC	SEPT8	-	pirsf_Septin	ENSG00000164402		0.622	SEPT8-002	KNOWN	basic|CCDS	protein_coding	SEPT8	HGNC	protein_coding	OTTHUMT00000132827.2		0	24	0	G	XM_034872		132096666	-1			no_errors	ENST00000378719	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	132096666	G	T	132096666	3	4	32	1	0	0	0	0	1	0	0	0	14115	1319	46	3	400	3	SEPT8	5	132096666	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	42326565	132096666	48818594	66	7645											
PCDHA4	56144	genome.wustl.edu	37	chr5	140188667	140188667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtacactggcgagatcaGcacaacgcgtgccctggacg	9	6	13	13	4	1	1	1	0	0	1	1	3	1	2	1	2	4	3	1	2	2	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:140188667G>A	ENST00000530339.1	+	1	1895	c.1895G>A	c.(1894-1896)aGc>aAc	p.S632N	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S632N|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S632N	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	632	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGATCAGCACAACGCGT	0.687																																																	0													101	99	99					5																	140188667		2203	4300	6503	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1895G>A	5.37:g.140188667G>A	ENSP00000435300:p.Ser632Asn		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S632N	ENST00000530339.1	37	c.1895	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	15.00	2.702139	0.48307	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.55234	0.53;0.53;0.53	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.134573	0.33534	U	0.004816	T	0.79673	0.4486	H	0.95470	3.675	0.24107	N	0.995857	D;P;D	0.55800	0.973;0.949;0.971	P;P;D	0.66979	0.839;0.827;0.948	T	0.75728	-0.3216	10	0.52906	T	0.07	.	16.6588	0.85236	0.0:0.0:1.0:0.0	.	632;632;632	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	N	632	ENSP00000423470:S632N;ENSP00000349344:S632N;ENSP00000435300:S632N	ENSP00000349344:S632N	S	+	2	0	PCDHA4	140168851	0.997000	0.39634	1.000000	0.80357	0.048000	0.14542	5.130000	0.64745	2.006000	0.58801	0.484000	0.47621	AGC	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.687	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0	87	0	G	NM_018907		140188667	1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	36.70	69	40	SNP	1.000	A	A	140188667	G	A	140188667	3	1	32	1	0	0	0	0	1	0	0	0	11565	971	34	3	1897	3	PCDHA4	5	140188667	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	8092001	140188667	40726593	67	7646											
PCDHB2	56133	genome.wustl.edu	37	chr5	140475366	140475366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatggtgggggcctatctgGaacttgtgtggtatttgtcc	6	14	15	6	0	1	1	0	0	1	1	2	2	2	2	2	5	1	1	2	5	3	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:140475366G>T	ENST00000194155.4	+	1	1140	c.992G>T	c.(991-993)gGa>gTa	p.G331V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	331	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCTATCTGGAACTTGTGTG	0.433																																																	0													98	98	98					5																	140475366		2203	4300	6503	SO:0001583	missense	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.992G>T	5.37:g.140475366G>T	ENSP00000194155:p.Gly331Val		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G331V	ENST00000194155.4	37	c.992	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482448	0.44147	.	.	ENSG00000112852	ENST00000194155	T	0.55413	0.52	5.38	3.42	0.39159	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.69744	0.3145	M	0.69823	2.125	0.44694	D	0.997687	D	0.69078	0.997	D	0.68483	0.958	T	0.74899	-0.3507	9	0.59425	D	0.04	.	15.7582	0.78054	0.0:0.4286:0.5714:0.0	.	331	Q9Y5E7	PCDB2_HUMAN	V	331	ENSP00000194155:G331V	ENSP00000194155:G331V	G	+	2	0	PCDHB2	140455550	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.821000	0.27338	1.364000	0.46038	0.650000	0.86243	GGA	PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000112852		0.433	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2		0	38	0	G	NM_018936		140475366	1			no_errors	ENST00000194155	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.447	T	T	140475366	G	T	140475366	3	4	32	1	0	0	0	0	1	0	0	0	11581	1174	41	3	994	3	PCDHB2	5	140475366	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	286699	140475366	40439894	68	7647											
KCTD16	57528	genome.wustl.edu	37	chr5	143853578	143853578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattgaggaggagctggaGaaatgtatccaggatttcct	12	11	12	6	0	1	2	1	1	0	1	3	6	3	5	2	4	1	2	2	4	3	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:143853578G>T	ENST00000507359.3	+	3	2279	c.1188G>T	c.(1186-1188)gaG>gaT	p.E396D	KCTD16_ENST00000512467.1_Missense_Mutation_p.E396D	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	396					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.E396E(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGGAGCTGGAGAAATGTATCC	0.408																																																	1	Substitution - coding silent(1)	ovary(1)											60	71	67					5																	143853578		2200	4300	6500	SO:0001583	missense	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1188G>T	5.37:g.143853578G>T	ENSP00000426548:p.Glu396Asp		Q9P2M9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E396D	ENST00000507359.3	37	c.1188	CCDS34260.1	5	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540680	0.65085	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.46063	0.88;0.88	6.17	1.94	0.25998	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	L	0.29908	0.895	0.38196	D	0.940049	B	0.32781	0.384	B	0.26416	0.069	T	0.11494	-1.0585	10	0.72032	D	0.01	.	6.1676	0.20398	0.3416:0.0:0.5318:0.1267	.	396	Q68DU8	KCD16_HUMAN	D	396	ENSP00000424151:E396D;ENSP00000426548:E396D	ENSP00000426548:E396D	E	+	3	2	KCTD16	143833771	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.405000	0.21015	0.484000	0.27630	0.655000	0.94253	GAG	KCTD16	-	NULL	ENSG00000183775		0.408	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3		0	30	0	G	XM_098368		143853578	1			no_errors	ENST00000507359	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.997	T	T	143853578	G	T	143853578	3	4	32	1	0	0	0	0	1	0	0	0	8130	933	33	3	1194	3	KCTD16	5	143853578	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3378212	143853578	37061682	69	7648											
SH3RF2	153769	genome.wustl.edu	37	chr5	145439666	145439666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatccactccgcggccaGctccctcattatggaagaca	9	8	9	15	2	1	1	1	0	0	1	4	3	4	3	4	3	1	1	4	3	2	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:145439666G>T	ENST00000511217.1	+	8	1845	c.1793G>T	c.(1792-1794)aGc>aTc	p.S598I	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S598I|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	598					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCGGCCAGCTCCCTCATT	0.617																																																	0													56	62	60					5																	145439666		2203	4300	6503	SO:0001583	missense	0			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1793G>T	5.37:g.145439666G>T	ENSP00000424497:p.Ser598Ile		A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.S598I	ENST00000511217.1	37	c.1793	CCDS4280.1	5	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644536	0.47258	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.22743	1.94;1.94	5.73	1.89	0.25635	.	0.304848	0.36134	N	0.002770	T	0.27832	0.0685	L	0.46157	1.445	0.25165	N	0.990329	P;P	0.52061	0.95;0.938	P;P	0.55455	0.776;0.603	T	0.03278	-1.1053	10	0.51188	T	0.08	-12.178	8.5542	0.33471	0.3137:0.0:0.6863:0.0	.	89;598	Q8TEC5-2;Q8TEC5	.;SH3R2_HUMAN	I	598	ENSP00000352028:S598I;ENSP00000424497:S598I	ENSP00000352028:S598I	S	+	2	0	SH3RF2	145419859	0.997000	0.39634	0.764000	0.31436	0.204000	0.24138	2.430000	0.44766	0.748000	0.32831	0.536000	0.68110	AGC	SH3RF2	-	NULL	ENSG00000156463		0.617	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1		0	104	0	G	NM_152550		145439666	1			no_errors	ENST00000359120	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.899	T	T	145439666	G	T	145439666	3	4	32	1	0	0	0	0	1	0	0	0	14304	971	34	3	1823	3	SH3RF2	5	145439666	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1586088	145439666	35475594	70	7649											
CYFIP2	26999	genome.wustl.edu	37	chr5	156787307	156787307	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagctccaaggaaccattctCcagtatgtgaaaacactgat	14	9	7	11	0	1	2	0	2	1	0	3	3	2	3	3	1	3	2	3	1	5	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:156787307C>G	ENST00000521420.1	+	24	2848	c.2757C>G	c.(2755-2757)ctC>ctG	p.L919L	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.L945L|CYFIP2_ENST00000435847.2_Silent_p.L644L|CYFIP2_ENST00000522463.1_Silent_p.L749L|CYFIP2_ENST00000347377.6_Silent_p.L945L|CYFIP2_ENST00000541131.1_Silent_p.L870L|CYFIP2_ENST00000318218.6_Silent_p.L970L					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAACCATTCTCCAGTATGTGA	0.498																																																	0													156	155	155					5																	156787307		2015	4211	6226	SO:0001819	synonymous_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.2757C>G	5.37:g.156787307C>G				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.L970	ENST00000521420.1	37	c.2910		5																																																																																			CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.498	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0	72	0	C	NM_001037332		156787307	1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	silent	56.67	26	34	SNP	0.995	G	G	156787307	C	G	156787307	2	3	32	1	0	0	0	0	0	0	0	1	4147	842	30	5		5	CYFIP2	5	156787307	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	11347641	156787307	24127953	71	7650											
C5orf45	51149	genome.wustl.edu	37	chr5	179264464	179264464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcgaggattctgtgccTccaggaccaggggcccaccc	6	7	14	14	1	1	0	0	0	1	0	3	3	2	2	5	5	1	0	5	5	0	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr5:179264464T>C	ENST00000292586.6	-	7	1049	c.959A>G	c.(958-960)gAg>gGg	p.E320G	C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000376931.2_Missense_Mutation_p.E265G|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.E186G|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000523267.1_5'UTR|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000520698.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	320										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						ATTCTGTGCCTCCAGGACCAG	0.577																																																	0													164	167	166					5																	179264464		2203	4300	6503	SO:0001583	missense	0				CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"truncated calcium binding protein"						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.959A>G	5.37:g.179264464T>C	ENSP00000292586:p.Glu320Gly		B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	NULL	p.E320G	ENST00000292586.6	37	c.959	CCDS34319.1	5	.	.	.	.	.	.	.	.	.	.	T	0.178	-1.065318	0.01934	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.08282	3.11;3.11;3.11	4.49	-2.81	0.05805	.	1.400360	0.04607	N	0.399580	T	0.01835	0.0058	N	0.00707	-1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.39603	-0.9606	10	0.02654	T	1	-1.7387	3.6232	0.08104	0.4179:0.2443:0.0:0.3378	.	265;320	E9PAK6;Q6NTE8	.;CE045_HUMAN	G	265;186;320	ENSP00000366130:E265G;ENSP00000429107:E186G;ENSP00000292586:E320G	ENSP00000292586:E320G	E	-	2	0	C5orf45	179197070	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.163000	0.09997	-0.610000	0.05716	0.379000	0.24179	GAG	C5orf45	-	NULL	ENSG00000161010		0.577	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf45	HGNC	protein_coding	OTTHUMT00000373760.2		0	29	0	T	NM_016175		179264464	-1			no_errors	ENST00000292586	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	C	C	179264464	T	C	179264464	3	2	32	1	0	0	0	0	1	0	0	0	2311	1551	54	4	76	4	C5orf45	5	179264464	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	22477157	179264464	1650796	72	7651											
CCHCR1	54535	genome.wustl.edu	37	chr6	31122386	31122386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggccctcagcctcagCtcggccggccttctccgccc	4	6	10	21	4	3	0	2	0	1	0	5	0	3	0	6	3	2	2	6	3	0	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:31122386C>T	ENST00000376266.5	-	4	543	c.421G>A	c.(421-423)Gct>Act	p.A141T	CCHCR1_ENST00000396263.2_Missense_Mutation_p.A141T|CCHCR1_ENST00000396268.3_Missense_Mutation_p.A230T|CCHCR1_ENST00000451521.2_Missense_Mutation_p.A194T|CCHCR1_ENST00000480060.1_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	141					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCAGCCTCAGCTCGGCCGGCC	0.662																																																	0													145	186	171					6																	31122386		1509	2709	4218	SO:0001583	missense	0			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.421G>A	6.37:g.31122386C>T	ENSP00000365442:p.Ala141Thr		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.A230T	ENST00000376266.5	37	c.688	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019499	0.35606	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245	T;T;T;T;T;T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32;3.32	5.33	4.46	0.54185	.	0.423339	0.22483	N	0.059478	T	0.08044	0.0201	M	0.70595	2.14	0.09310	N	1	D;D;D;B;D	0.64830	0.994;0.978;0.992;0.085;0.992	D;P;D;B;P	0.65773	0.938;0.829;0.916;0.059;0.898	T	0.17048	-1.0382	10	0.13108	T	0.6	-1.931	9.9505	0.41636	0.0:0.9059:0.0:0.0941	.	141;141;141;194;230	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	T	230;141;141;141;194;105;105;141;115;105;141;141;141;167	ENSP00000379566:A230T;ENSP00000365442:A141T;ENSP00000379561:A141T;ENSP00000401039:A194T;ENSP00000414323:A105T;ENSP00000421393:A105T;ENSP00000390027:A141T;ENSP00000425682:A115T;ENSP00000421992:A105T;ENSP00000420941:A141T;ENSP00000398715:A141T	ENSP00000365442:A141T	A	-	1	0	CCHCR1	31230365	0.044000	0.20184	0.573000	0.28510	0.382000	0.30200	1.511000	0.35801	1.265000	0.44215	0.638000	0.83543	GCT	CCHCR1	-	pfam_HCR	ENSG00000204536		0.662	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	-	0	40	0	C	NM_019052		31122386	-1	tier1	-	no_errors	ENST00000396268	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.234	T	T	31122386	C	T	31122386	3	4	32	1	0	0	0	0	1	0	0	0	2884	797	28	3	1987	3	CCHCR1	6	31122386	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		31122386	139992681	73	7652											
CRISP3	10321	genome.wustl.edu	37	chr6	49700981	49700981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcatttccacatccaaCgaggtatgaagagtaccaaa	15	8	9	9	1	0	2	0	1	0	1	2	3	2	2	3	2	2	4	3	2	6	4	rs377483373		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:49700981C>T	ENST00000393666.1	-	5	454	c.448G>A	c.(448-450)Gtt>Att	p.V150I	CRISP3_ENST00000371159.4_Missense_Mutation_p.V181I|CRISP3_ENST00000423399.2_Missense_Mutation_p.V60I|CRISP3_ENST00000263045.4_Missense_Mutation_p.V163I|CRISP3_ENST00000433368.2_Missense_Mutation_p.V173I			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	150	SCP.				defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CCACATCCAACGAGGTATGAA	0.333																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	113	114	114		517,487	-0.5	0.1	6		114	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	CRISP3	NM_001190986.1,NM_006061.2	29,29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	173/269,163/259	49700981	1,13001	2203	4298	6501	SO:0001583	missense	0			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.448G>A	6.37:g.49700981C>T	ENSP00000377274:p.Val150Ile		A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	pfam_CAP_domain,pfam_Cysteine_rich_secretory,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.V173I	ENST00000393666.1	37	c.517		6	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984944	0.35036	0.0	1.16E-4	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.50277	2.82;2.82;2.82;0.75;2.82;2.82	5.16	-0.516	0.11950	CAP domain (3);	0.199817	0.32204	U	0.006435	T	0.09774	0.0240	N	0.20304	0.555	0.09310	N	1	D	0.55385	0.971	B	0.44224	0.444	T	0.31613	-0.9937	10	0.12430	T	0.62	.	3.4945	0.07650	0.1779:0.3807:0.0:0.4414	.	150	P54108	CRIS3_HUMAN	I	163;173;150;60;181;173	ENSP00000263045:V163I;ENSP00000389026:V173I;ENSP00000377274:V150I;ENSP00000410469:V60I;ENSP00000360201:V181I;ENSP00000346636:V173I	ENSP00000263045:V163I	V	-	1	0	CRISP3	49808940	0.004000	0.15560	0.058000	0.19502	0.645000	0.38454	-0.269000	0.08596	0.021000	0.15133	0.561000	0.74099	GTT	CRISP3	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000096006		0.333	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	CRISP3	HGNC	protein_coding		-	0	55	0	C	NM_006061		49700981	-1	tier1	-	no_errors	ENST00000433368	ensembl	human	known	74_37	missense	24.66	55	18	SNP	0.009	T	T	49700981	C	T	49700981	3	4	32	1	0	0	0	0	1	0	0	0	3888	536	19	1	301	1	CRISP3	6	49700981	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	18578595	49700981	121414086	74	7653											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62757860	62757860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtagcctcttcaaggAgtttcctcttggtccaagca	7	14	8	12	0	3	0	1	0	2	0	6	1	6	1	4	2	2	3	4	2	3	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:62757860A>G	ENST00000281156.4	-	3	537	c.259T>C	c.(259-261)Tcc>Ccc	p.S87P		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	87	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTCTTCAAGGAGTTTCCTCTT	0.363																																																	0													144	136	139					6																	62757860		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.259T>C	6.37:g.62757860A>G	ENSP00000281156:p.Ser87Pro		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.S87P	ENST00000281156.4	37	c.259	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994556	0.74703	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.30182	1.54	5.05	5.05	0.67936	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.50240	0.1604	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58891	-0.7556	10	0.87932	D	0	-2.7781	15.0834	0.72133	1.0:0.0:0.0:0.0	.	87	Q5VWX1	KHDR2_HUMAN	P	87	ENSP00000281156:S87P	ENSP00000281156:S87P	S	-	1	0	KHDRBS2	62815819	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.087000	0.71362	2.015000	0.59207	0.377000	0.23210	TCC	KHDRBS2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000112232		0.363	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0	50	0	A	NM_152688		62757860	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	33.96	35	18	SNP	1.000	G	G	62757860	A	G	62757860	3	3	32	1	0	0	0	0	1	0	0	0	8174	304	11	4	818	4	KHDRBS2	6	62757860	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	13056879	62757860	108357207	75	7654											
MCHR2	84539	genome.wustl.edu	37	chr6	100395640	100395640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtctttcacttacctGtccacactcattacagtcat	11	14	3	13	0	5	0	4	0	1	0	6	0	6	0	2	0	2	0	2	0	3	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:100395640G>T	ENST00000281806.2	-	3	704	c.390C>A	c.(388-390)gaC>gaA	p.D130E	MCHR2_ENST00000369212.2_Missense_Mutation_p.D130E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D130D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCACTTACCTGTCCACACTCA	0.443																																																	1	Substitution - coding silent(1)	lung(1)											131	142	138					6																	100395640		2203	4300	6503	SO:0001583	missense	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.390C>A	6.37:g.100395640G>T	ENSP00000281806:p.Asp130Glu		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.D130E	ENST00000281806.2	37	c.390	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979214	0.74360	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	D;D;D	0.83755	-1.76;-1.76;-1.76	4.57	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	D	0.84656	0.5520	M	0.64170	1.965	0.42349	D	0.992368	D	0.89917	1.0	D	0.97110	1.0	D	0.85739	0.1336	10	0.87932	D	0	.	9.1243	0.36805	0.1176:0.0:0.8824:0.0	.	130	Q969V1	MCHR2_HUMAN	E	130	ENSP00000403490:D130E;ENSP00000281806:D130E;ENSP00000358214:D130E	ENSP00000281806:D130E	D	-	3	2	MCHR2	100502361	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.316000	0.59178	0.830000	0.34757	0.650000	0.86243	GAC	MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000152034		0.443	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2		0	44	0	G	NM_032503		100395640	-1			no_errors	ENST00000281806	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	100395640	G	T	100395640	3	4	32	1	0	0	0	0	1	0	0	0	9421	1368	48	3	648	3	MCHR2	6	100395640	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	37637780	100395640	70719427	76	7655											
BVES	11149	genome.wustl.edu	37	chr6	105573372	105573372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaaaactgtccagttaGtcttctgaacaaatctggag	13	11	8	9	0	3	1	0	1	3	0	4	2	4	2	1	1	3	2	1	1	5	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:105573372G>T	ENST00000314641.5	-	4	649	c.433C>A	c.(433-435)Cta>Ata	p.L145I	BVES_ENST00000446408.2_Missense_Mutation_p.L145I|BVES_ENST00000336775.5_Missense_Mutation_p.L145I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	145					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGTCCAGTTAGTCTTCTGAAC	0.433																																																	0													157	153	154					6																	105573372		2203	4300	6503	SO:0001583	missense	0			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.433C>A	6.37:g.105573372G>T	ENSP00000313172:p.Leu145Ile		A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.L145I	ENST00000314641.5	37	c.433	CCDS5051.1	6	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463557	0.63513	.	.	ENSG00000112276	ENST00000314641;ENST00000336775;ENST00000446408	T;T;T	0.26067	1.76;1.76;1.76	5.76	3.25	0.37280	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.20292	0.0488	L	0.29908	0.895	0.46260	D	0.998952	D	0.76494	0.999	D	0.78314	0.991	T	0.02378	-1.1168	10	0.33141	T	0.24	-26.4537	8.8599	0.35251	0.6511:0.0:0.3489:0.0	.	145	Q8NE79	POPD1_HUMAN	I	145	ENSP00000313172:L145I;ENSP00000337259:L145I;ENSP00000397310:L145I	ENSP00000313172:L145I	L	-	1	2	BVES	105680065	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	2.111000	0.41883	0.451000	0.26802	-0.290000	0.09829	CTA	BVES	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000112276		0.433	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	-	0	61	0	G	NM_147147		105573372	-1	tier1	-	no_errors	ENST00000314641	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	105573372	G	T	105573372	3	4	32	1	0	0	0	0	1	0	0	0	1579	1020	36	3	669	3	BVES	6	105573372	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	5177732	105573372	65541695	77	7656											
HDDC2	51020	genome.wustl.edu	37	chr6	125613988	125613988	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtaccatatatacttactTcccaaagttcatagagctcc	13	12	4	12	1	1	1	1	0	0	1	3	1	3	1	3	0	4	3	3	0	7	8			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:125613988T>A	ENST00000398153.2	-	4	419	c.377A>T	c.(376-378)gAa>gTa	p.E126V	HDDC2_ENST00000368377.4_Splice_Site_p.E92V|HDDC2_ENST00000608295.1_Intron	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	126	HD.					extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		TATACTTACTTCCCAAAGTTC	0.358																																																	0													138	137	137					6																	125613988		1847	4100	5947	SO:0001630	splice_region_variant	0			AF151888	CCDS43503.1	6q13-q24.3	2008-02-05	2005-08-22	2005-08-22	ENSG00000111906	ENSG00000111906			21078	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 74"	C6orf74		10810093	Standard	NM_016063		Approved	CGI-130, dJ167O5.2	uc003qaa.1	Q7Z4H3	OTTHUMG00000015506	ENST00000398153.2:c.378+1A>T	6.37:g.125613988T>A			Q5TDQ4|Q6NZ49|Q9BTT2|Q9BV31|Q9Y3D1	Missense_Mutation	SNP	pfam_HD_domain,smart_HD/PDEase_dom	p.E126V	ENST00000398153.2	37	c.377	CCDS43503.1	6	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836396	0.91117	.	.	ENSG00000111906	ENST00000318787;ENST00000398153;ENST00000368377	T;T;T	0.47869	0.83;0.88;0.83	5.52	5.52	0.82312	Metal-dependent phosphohydrolase, HD domain (1);Metal-dependent phosphohydrolase, HD subdomain (1);HD domain (1);	0.045054	0.85682	D	0.000000	T	0.50582	0.1624	M	0.84585	2.705	0.80722	D	1	P	0.38250	0.624	B	0.44044	0.439	T	0.59139	-0.7510	10	0.54805	T	0.06	.	14.9183	0.70815	0.0:0.0:0.0:1.0	.	126	Q7Z4H3	HDDC2_HUMAN	V	92;126;92	ENSP00000316242:E92V;ENSP00000381220:E126V;ENSP00000357361:E92V	ENSP00000316242:E92V	E	-	2	0	HDDC2	125655687	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.337000	0.79256	2.218000	0.71995	0.533000	0.62120	GAA	HDDC2	-	pfam_HD_domain,smart_HD/PDEase_dom	ENSG00000111906		0.358	HDDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HDDC2	HGNC	protein_coding	OTTHUMT00000472493.1	-	0	43	0	T	NM_016063	Missense_Mutation	125613988	-1	tier1	-	no_errors	ENST00000398153	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	125613988	T	A	125613988	5	1	32	1	0	0	0	0	0	0	1	0	7043	1797	62	5	249	5	HDDC2	6	125613988	Splice_Site	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	20040616	125613988	45501079	78	7657											
ARID1B	57492	genome.wustl.edu	37	chr6	157505527	157505527	+	Frame_Shift_Del	DEL	G	G	-																															cgccggaagtcttcagcaccGgggacaccaaaaagcagccc																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:157505527delG	ENST00000350026.5	+	12	3470	c.3469delG	c.(3469-3471)gggfs	p.G1157fs	ARID1B_ENST00000346085.5_Frame_Shift_Del_p.G1170fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.G1152fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.G1210fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1157					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTTCAGCACCGGGGACACCAA	0.612																																																	0													39	42	41					6																	157505527		2203	4296	6499	SO:0001589	frameshift_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3469delG	6.37:g.157505527delG	ENSP00000055163:p.Gly1157fs		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D1211fs	ENST00000350026.5	37	c.3628	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.612	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0	30	0	G	NM_020732		157505527	1	tier1		no_errors	ENST00000367148	ensembl	human	known	74_37	frame_shift_del	7.84	47	4	DEL	0.792	-	-	157505527	G	-	157505527	7	5	32	1	0	1	0	1	0	0	0	0	914	1116	39	0	3558	0	ARID1B	6	157505527	Frame_Shift_Del	DEL	G	TCGA-IG-A97H-01A-11D-A387-09	31891539	157505527	13609540	79	7658											
SYNJ2	8871	genome.wustl.edu	37	chr6	158487571	158487571	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggacctggaacgtgaacGgaggaaagcagttccggagc	11	5	17	8	3	0	1	0	1	0	0	1	6	1	6	2	6	4	2	2	6	3	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:158487571G>T	ENST00000355585.4	+	12	1696	c.1621G>T	c.(1621-1623)Gga>Tga	p.G541*	SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.G541*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.G541*|SYNJ2_ENST00000449859.2_Nonsense_Mutation_p.G469*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	541					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAACGTGAACGGAGGAAAGCA	0.582																																																	0													102	93	96					6																	158487571		2203	4300	6503	SO:0001587	stop_gained	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1621G>T	6.37:g.158487571G>T	ENSP00000347792:p.Gly541*		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Nonsense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.G541*	ENST00000355585.4	37	c.1621	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.815988	0.97861	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	.	.	.	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	.	.	.	X	541;541;541;469	.	ENSP00000347792:G541X	G	+	1	0	SYNJ2	158407559	1.000000	0.71417	0.607000	0.28956	0.567000	0.35839	9.746000	0.98859	2.492000	0.84095	0.456000	0.33151	GGA	SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000078269		0.582	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2		0	74	0	G			158487571	1			no_errors	ENST00000355585	ensembl	human	known	74_37	nonsense	6.17	76	5	SNP	1.000	T	T	158487571	G	T	158487571	4	4	32	1	0	0	0	0	0	1	0	0	15500	1117	39	2	1667	2	SYNJ2	6	158487571	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	982044	158487571	12627496	80	7659											
TAGAP	117289	genome.wustl.edu	37	chr6	159457254	159457254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtctggctgccgggccctGcatggcctcttcataagagg	6	10	13	12	1	3	1	1	0	2	1	3	1	3	1	3	4	2	2	3	4	2	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:159457254G>T	ENST00000367066.3	-	10	2132	c.1801C>A	c.(1801-1803)Cag>Aag	p.Q601K	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.Q423K|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	601					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCCGGGCCCTGCATGGCCTCT	0.657																																																	0													35	40	38					6																	159457254		2203	4300	6503	SO:0001583	missense	0			AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"Rho GTPase activating proteins"	15669	protein-coding gene	gene with protein product		609667	"T-cell activation GTPase activating protein"			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1801C>A	6.37:g.159457254G>T	ENSP00000356033:p.Gln601Lys		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q601K	ENST00000367066.3	37	c.1801	CCDS5261.1	6	.	.	.	.	.	.	.	.	.	.	G	1.499	-0.552603	0.03996	.	.	ENSG00000164691	ENST00000367066;ENST00000326965;ENST00000539071	T;T	0.17213	2.29;2.51	5.54	2.72	0.32119	.	1.308200	0.05194	N	0.503670	T	0.03477	0.0100	L	0.34521	1.04	0.09310	N	0.999995	B	0.15473	0.013	B	0.13407	0.009	T	0.40739	-0.9547	10	0.08179	T	0.78	-0.0479	7.3613	0.26748	0.0805:0.0:0.4168:0.5027	.	601	Q8N103	TAGAP_HUMAN	K	601;423;266	ENSP00000356033:Q601K;ENSP00000322650:Q423K	ENSP00000322650:Q423K	Q	-	1	0	TAGAP	159377242	0.999000	0.42202	0.000000	0.03702	0.082000	0.17680	2.758000	0.47565	0.260000	0.21731	0.655000	0.94253	CAG	TAGAP	-	NULL	ENSG00000164691		0.657	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAGAP	HGNC	protein_coding	OTTHUMT00000042890.1		0	17	0	G	NM_054114		159457254	-1			no_errors	ENST00000367066	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	T	T	159457254	G	T	159457254	3	4	32	1	0	0	0	0	1	0	0	0	15584	1328	46	3	398	3	TAGAP	6	159457254	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	969683	159457254	11657813	81	7660											
IGF2R	3482	genome.wustl.edu	37	chr6	160525851	160525851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccctcagctccctgcatgGggatgaccaggacagtgagg	9	6	14	12	0	1	2	1	2	0	0	2	4	2	4	3	4	3	2	3	4	0	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr6:160525851G>A	ENST00000356956.1	+	48	7359	c.7211G>A	c.(7210-7212)gGg>gAg	p.G2404E	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2404					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCCCTGCATGGGGATGACCAG	0.582																																																	0													109	88	95					6																	160525851		2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.7211G>A	6.37:g.160525851G>A	ENSP00000349437:p.Gly2404Glu		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.G2404E	ENST00000356956.1	37	c.7211	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309854	0.60414	.	.	ENSG00000197081	ENST00000356956	T	0.08546	3.08	5.35	-0.201	0.13212	.	0.521409	0.21028	N	0.081387	T	0.04227	0.0117	M	0.75447	2.3	0.30562	N	0.764365	P	0.34462	0.454	B	0.35240	0.198	T	0.18681	-1.0329	10	0.45353	T	0.12	-19.8096	8.8881	0.35416	0.0:0.2013:0.2206:0.5781	.	2404	P11717	MPRI_HUMAN	E	2404	ENSP00000349437:G2404E	ENSP00000349437:G2404E	G	+	2	0	IGF2R	160445841	0.993000	0.37304	0.749000	0.31150	0.985000	0.73830	1.002000	0.29796	0.264000	0.21851	0.655000	0.94253	GGG	IGF2R	-	NULL	ENSG00000197081		0.582	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1		0	31	0	G	NM_000876		160525851	1			no_errors	ENST00000356956	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	160525851	G	A	160525851	3	1	32	1	0	0	0	0	1	0	0	0	7603	1232	43	3	7401	3	IGF2R	6	160525851	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1068597	160525851	10589216	82	7661											
NPVF	64111	genome.wustl.edu	37	chr7	25266259	25266259	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaccttgactgtttttgAtcgggattctggatttcttg	6	20	9	6	1	2	2	0	2	2	0	3	4	2	4	1	2	1	1	1	2	1	8	rs113088992		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:25266259A>T	ENST00000222674.2	-	2	571	c.525T>A	c.(523-525)gaT>gaA	p.D175E		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	175					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ACTGTTTTTGATCGGGATTCT	0.408																																																	0													211	193	199					7																	25266259		2203	4300	6503	SO:0001583	missense	0			AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"Endogenous ligands"	13782	protein-coding gene	gene with protein product	"RFamide-related peptide precursor", "FMRFamide-related peptide precursor"		"chromosome 7 open reading frame 9"	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.525T>A	7.37:g.25266259A>T	ENSP00000222674:p.Asp175Glu		A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	NULL	p.D175E	ENST00000222674.2	37	c.525	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	A	4.057	0.008348	0.07912	.	.	ENSG00000105954	ENST00000222674	T	0.24908	1.83	5.67	-9.84	0.00479	.	0.891317	0.09753	N	0.760325	T	0.13243	0.0321	L	0.45581	1.43	0.09310	N	1	B	0.20671	0.047	B	0.20955	0.032	T	0.21008	-1.0258	10	0.17832	T	0.49	-22.4511	3.3052	0.06997	0.2646:0.1046:0.4255:0.2052	.	175	Q9HCQ7	RFRP_HUMAN	E	175	ENSP00000222674:D175E	ENSP00000222674:D175E	D	-	3	2	NPVF	25232784	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.588000	0.05774	-1.540000	0.01730	-1.151000	0.01829	GAT	NPVF	-	NULL	ENSG00000105954		0.408	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	-	0	53	0	A	NM_022150		25266259	-1	tier1	-	no_errors	ENST00000222674	ensembl	human	known	74_37	missense	44.54	66	53	SNP	0.000	T	T	25266259	A	T	25266259	3	4	32	1	0	0	0	0	1	0	0	0	10644	330	12	5	73	5	NPVF	7	25266259	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09		25266259	133872404	83	7662											
MRPL32	64983	genome.wustl.edu	37	chr7	42976978	42976978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaacatgtcctttgtGcctactgctatgaaaaggtg	13	11	9	8	0	0	2	0	1	0	1	1	2	1	2	2	1	5	1	2	1	6	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:42976978G>T	ENST00000223324.2	+	3	557	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	124					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TGTCCTTTGTGCCTACTGCTA	0.418																																																	0													130	119	123					7																	42976978		2203	4300	6503	SO:0001583	missense	0			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.370G>T	7.37:g.42976978G>T	ENSP00000223324:p.Ala124Ser		Q96Q68|Q9P098	Missense_Mutation	SNP	pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd	p.A124S	ENST00000223324.2	37	c.370	CCDS5468.1	7	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331155	0.60853	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.9	5.9	0.94986	.	0.133148	0.64402	D	0.000001	T	0.27454	0.0674	N	0.02916	-0.46	0.30509	N	0.769624	B	0.10296	0.003	B	0.06405	0.002	T	0.05178	-1.0901	9	0.16420	T	0.52	-4.3367	20.2789	0.98501	0.0:0.0:1.0:0.0	.	124	Q9BYC8	RM32_HUMAN	S	124	.	ENSP00000223324:A124S	A	+	1	0	MRPL32	42943503	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.071000	0.93980	2.788000	0.95919	0.650000	0.86243	GCC	MRPL32	-	pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd	ENSG00000106591		0.418	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL32	HGNC	protein_coding	OTTHUMT00000338669.1	-	0	46	0	G	NM_031903		42976978	1	tier1	-	no_errors	ENST00000223324	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	42976978	G	T	42976978	3	4	32	1	0	0	0	0	1	0	0	0	9833	1319	46	3	380	3	MRPL32	7	42976978	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	17710719	42976978	116161685	84	7663											
PCLO	27445	genome.wustl.edu	37	chr7	82583743	82583743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgtcagagggtgggaCagatgtagcactttctgaag	10	10	16	5	0	2	3	1	1	1	2	2	4	2	4	0	3	1	2	0	3	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:82583743C>T	ENST00000333891.9	-	5	6863	c.6526G>A	c.(6526-6528)Gtc>Atc	p.V2176I	PCLO_ENST00000423517.2_Missense_Mutation_p.V2176I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGGTGGGACAGATGTAGCA	0.438																																																	0													127	127	127					7																	82583743		1983	4163	6146	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6526G>A	7.37:g.82583743C>T	ENSP00000334319:p.Val2176Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V2176I	ENST00000333891.9	37	c.6526	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	9.329	1.060024	0.19987	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.33	5.66	4.76	0.60689	.	.	.	.	.	T	0.10508	0.0257	N	0.16478	0.41	0.80722	D	1	B;B	0.15473	0.013;0.013	B;B	0.12156	0.007;0.007	T	0.08638	-1.0712	9	0.87932	D	0	.	6.6069	0.22729	0.1339:0.6666:0.1294:0.0701	.	2176;2176	Q9Y6V0-5;Q9Y6V0-6	.;.	I	2107;2176;2176	ENSP00000334319:V2176I;ENSP00000388393:V2176I	ENSP00000334319:V2176I	V	-	1	0	PCLO	82421679	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	1.410000	0.34691	1.353000	0.45828	0.650000	0.86243	GTC	PCLO	-	NULL	ENSG00000186472		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	34	0	C	NM_014510		82583743	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	31.91	30	15	SNP	0.972	T	T	82583743	C	T	82583743	3	4	32	1	0	0	0	0	1	0	0	0	11622	478	17	3	9003	3	PCLO	7	82583743	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	39606765	82583743	76554920	85	7664											
CROT	54677	genome.wustl.edu	37	chr7	87020907	87020907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaattttttcttgtagccCtggttgttgctatgaaacag	8	19	8	6	0	1	1	0	1	1	0	1	1	1	1	1	1	3	4	1	1	4	10			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:87020907C>G	ENST00000331536.3	+	14	1489	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	CROT_ENST00000419147.2_Missense_Mutation_p.P463R|CROT_ENST00000442291.1_Missense_Mutation_p.P435R	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	435					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTTGTAGCCCTGGTTGTTGC	0.383																																																	0													104	101	102					7																	87020907		2203	4300	6503	SO:0001583	missense	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1304C>G	7.37:g.87020907C>G	ENSP00000331981:p.Pro435Arg		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.P435R	ENST00000331536.3	37	c.1304	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125429	0.77436	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88975	-2.45;-2.45;-2.45	5.34	5.34	0.76211	.	0.048485	0.85682	D	0.000000	D	0.95720	0.8608	M	0.92268	3.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94342	0.7571	10	0.25106	T	0.35	-19.5024	19.4097	0.94665	0.0:1.0:0.0:0.0	.	463;435	E7EQF2;Q9UKG9	.;OCTC_HUMAN	R	463;435;435	ENSP00000413575:P463R;ENSP00000331981:P435R;ENSP00000411983:P435R	ENSP00000331981:P435R	P	+	2	0	CROT	86858843	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.469000	0.66749	2.665000	0.90641	0.655000	0.94253	CCT	CROT	-	pfam_Carn_acyl_trans	ENSG00000005469		0.383	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	-	0	33	0	C	NM_021151		87020907	1	tier1	-	no_errors	ENST00000331536	ensembl	human	known	74_37	missense	29.41	35	15	SNP	1.000	G	G	87020907	C	G	87020907	3	3	32	1	0	0	0	0	1	0	0	0	3901	681	24	5	1438	5	CROT	7	87020907	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	4437164	87020907	72117756	86	7665											
SAMD9L	219285	genome.wustl.edu	37	chr7	92761406	92761406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaacgactgactttcttGcttaacatgatttctgcaat	13	14	5	9	1	2	2	0	2	2	0	2	3	2	2	0	0	5	2	0	0	4	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:92761406G>T	ENST00000318238.4	-	5	5095	c.3879C>A	c.(3877-3879)agC>agA	p.S1293R	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S1293R|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S1293R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1293					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGACTTTCTTGCTTAACATGA	0.338																																																	0													79	83	81					7																	92761406		2200	4300	6500	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3879C>A	7.37:g.92761406G>T	ENSP00000326247:p.Ser1293Arg		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.S1293R	ENST00000318238.4	37	c.3879	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.593377	0.00864	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.21031	2.03;2.03;2.03	5.22	-0.417	0.12347	.	0.883664	0.10088	N	0.717558	T	0.10508	0.0257	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.33317	-0.9873	10	0.06236	T	0.91	-0.3114	13.4868	0.61371	0.0724:0.494:0.4335:0.0	.	1293	Q8IVG5	SAM9L_HUMAN	R	1293	ENSP00000326247:S1293R;ENSP00000405760:S1293R;ENSP00000408796:S1293R	ENSP00000326247:S1293R	S	-	3	2	SAMD9L	92599342	0.000000	0.05858	0.413000	0.26509	0.709000	0.40893	-2.228000	0.01209	0.029000	0.15352	0.467000	0.42956	AGC	SAMD9L	-	NULL	ENSG00000177409		0.338	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1		0	27	0	G	NM_152703		92761406	-1			no_errors	ENST00000318238	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T	T	92761406	G	T	92761406	3	4	32	1	0	0	0	0	1	0	0	0	13872	1310	46	3	879	3	SAMD9L	7	92761406	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	5740499	92761406	66377257	87	7666											
LMTK2	22853	genome.wustl.edu	37	chr7	97820971	97820971	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaccagaaaagagaccCgcggctgaagatgtgcacag	13	5	12	11	2	1	4	1	1	0	3	1	5	1	4	2	1	1	2	2	1	3	0	rs149882695		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:97820971C>A	ENST00000297293.5	+	11	1487	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	398	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAAAGAGACCCGCGGCTGAAG	0.507																																																	0													58	56	56					7																	97820971		2203	4300	6503	SO:0001819	synonymous_variant	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1194C>A	7.37:g.97820971C>A			A4D272|Q75MG7|Q9UPS3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P398	ENST00000297293.5	37	c.1194	CCDS5654.1	7																																																																																			LMTK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000164715		0.507	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1		0	38	0	C	NM_014916		97820971	1			no_errors	ENST00000297293	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.107	A	A	97820971	C	A	97820971	2	1	32	1	0	0	0	0	0	0	0	1	8889	639	23	2		2	LMTK2	7	97820971	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	5059565	97820971	61317692	88	7667											
FLNC	2318	genome.wustl.edu	37	chr7	128486363	128486363	+	Frame_Shift_Del	DEL	C	C	-																															gctggcttccaggcgtgcatCtggtggaggtcctgtatgat																								rs34373805	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:128486363delC	ENST00000325888.8	+	23	4234	c.3973delC	c.(3973-3975)ctgfs	p.L1325fs	FLNC_ENST00000346177.6_Frame_Shift_Del_p.L1325fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1325					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCGTGCATCTGGTGGAGGT	0.667																																																	0													38	49	45					7																	128486363		2119	4223	6342	SO:0001589	frameshift_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.3973delC	7.37:g.128486363delC	ENSP00000327145:p.Leu1325fs		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.L1325fs	ENST00000325888.8	37	c.3973	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.667	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0	22	0	C			128486363	1	tier1		no_errors	ENST00000325888	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	0.656	-	-	128486363	C	-	128486363	7	5	32	1	0	1	0	1	0	0	0	0	5957	912	32	0	4063	0	FLNC	7	128486363	Frame_Shift_Del	DEL	C	TCGA-IG-A97H-01A-11D-A387-09	30665392	128486363	30652300	89	7668											
HIPK2	28996	genome.wustl.edu	37	chr7	139416737	139416737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagttggaactcggctctaTtttcagtttcttcacactac	8	15	6	12	1	4	0	2	0	2	0	5	1	4	1	1	2	2	3	1	2	3	7			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:139416737T>C	ENST00000406875.3	-	2	191	c.97A>G	c.(97-99)Ata>Gta	p.I33V	HIPK2_ENST00000342645.6_Missense_Mutation_p.I33V|HIPK2_ENST00000428878.2_Missense_Mutation_p.I33V	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	33				I -> V (in Ref. 1; AAG41236). {ECO:0000305}.	adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTCGGCTCTATTTTCAGTTTC	0.498																																																	0													73	70	71					7																	139416737		1568	3582	5150	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.97A>G	7.37:g.139416737T>C	ENSP00000385571:p.Ile33Val		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I33V	ENST00000406875.3	37	c.97		7	.	.	.	.	.	.	.	.	.	.	T	0.679	-0.798968	0.02841	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.37058	1.26;1.27;1.22	4.69	3.8	0.43715	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.24589	N	0.993831	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25606	-1.0127	8	0.02654	T	1	.	8.3496	0.32295	0.0:0.7601:0.1555:0.0843	.	33;33	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	V	33	ENSP00000385571:I33V;ENSP00000413724:I33V;ENSP00000343108:I33V	ENSP00000343108:I33V	I	-	1	0	HIPK2	139063223	1.000000	0.71417	0.847000	0.33407	0.990000	0.78478	4.710000	0.61873	1.295000	0.44724	-0.242000	0.12053	ATA	HIPK2	-	NULL	ENSG00000064393		0.498	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	-	0	36	0	T	NM_022740		139416737	-1	tier1	-	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	C	C	139416737	T	C	139416737	3	2	32	1	0	0	0	0	1	0	0	0	7144	1493	52	4	3555	4	HIPK2	7	139416737	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	10930374	139416737	19721926	90	7669											
PAXIP1	22976	genome.wustl.edu	37	chr7	154782739	154782740	+	Frame_Shift_Ins	INS	-	-	A																															gaaaggcaggcagtgattccINSaaaaaaaatctgacatgatt																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr7:154782739_154782740insA	ENST00000404141.1	-	4	454_455	c.300_301insT	c.(298-303)tttggafs	p.G101fs	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.G101fs			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	101	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCAGTGATTCCAAAAAAAATCT	0.332																																																	0																																										SO:0001589	frameshift_variant	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.301dupT	7.37:g.154782747_154782747dupA	ENSP00000384048:p.Gly101fs		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Ins	INS	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.G100fs	ENST00000404141.1	37	c.301_300	CCDS47753.1	7																																																																																			PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.332	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0	37	0	-	NM_007349		154782740	-1	tier1		no_errors	ENST00000397192	ensembl	human	known	74_37	frame_shift_ins	6.98	40	3	INS	1.000:1.000	A	A	154782740	-	A	154782739	7	5	32	1	0	1	1	0	0	0	0	0	11526	603	21	0	2980	0	PAXIP1	7	154782739	Frame_Shift_Ins	INS	-	TCGA-IG-A97H-01A-11D-A387-09	15366002	154782739	4355924	91	7670											
TNFRSF10D	8793	genome.wustl.edu	37	chr8	23006036	23006036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgtgcacgggttacaGgctccagtatattctgatct	7	13	9	12	1	3	1	0	1	3	0	4	1	4	1	2	2	2	4	2	2	3	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:23006036G>A	ENST00000312584.3	-	3	379	c.285C>T	c.(283-285)gcC>gcT	p.A95A		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	95					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		ACGGGTTACAGGCTCCAGTAT	0.448																																																	0													149	137	141					8																	23006036		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"Tumor necrosis factor receptor superfamily", "CD molecules"	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.285C>T	8.37:g.23006036G>A			B2R8W0|Q9Y6Q4	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10	p.A95	ENST00000312584.3	37	c.285	CCDS6038.1	8																																																																																			TNFRSF10D	-	prints_TNFR_10	ENSG00000173530		0.448	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10D	HGNC	protein_coding	OTTHUMT00000215135.1	-	0	69	0	G			23006036	-1	tier1	-	no_errors	ENST00000312584	ensembl	human	known	74_37	silent	37.10	38	23	SNP	0.000	A	A	23006036	G	A	23006036	2	1	32	1	0	0	0	0	0	0	0	1	16330	987	35	3		3	TNFRSF10D	8	23006036	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		23006036	123357986	92	7671											
PCMTD1	115294	genome.wustl.edu	37	chr8	52733245	52733245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtcgaatgtaaatacgaGccaagtcctgtagattcctg	11	11	10	9	3	0	1	0	0	0	1	3	3	2	1	3	0	3	2	3	0	6	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:52733245G>T	ENST00000360540.5	-	7	1146	c.740C>A	c.(739-741)gCt>gAt	p.A247D	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A247D|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A171D|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	247						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTAAATACGAGCCAAGTCCTG	0.363																																																	0													50	51	50					8																	52733245		2201	4298	6499	SO:0001583	missense	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.740C>A	8.37:g.52733245G>T	ENSP00000353739:p.Ala247Asp		Q96FK9	Missense_Mutation	SNP	pfam_PCMT	p.A247D	ENST00000360540.5	37	c.740	CCDS6148.1	8	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878246	0.91664	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.47177	0.85;0.85;0.85	5.77	5.77	0.91146	.	0.055607	0.64402	D	0.000001	T	0.64238	0.2580	L	0.52573	1.65	0.80722	D	1	D;D;P	0.71674	0.961;0.998;0.849	P;D;B	0.64237	0.541;0.923;0.382	T	0.64499	-0.6393	10	0.72032	D	0.01	-15.9573	19.9832	0.97338	0.0:0.0:1.0:0.0	.	117;171;247	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	D	247;171;247	ENSP00000353739:A247D;ENSP00000444026:A171D;ENSP00000428099:A247D	ENSP00000353739:A247D	A	-	2	0	PCMTD1	52895798	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.903000	0.92573	2.722000	0.93159	0.655000	0.94253	GCT	PCMTD1	-	NULL	ENSG00000168300		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2		0	53	0	G	NM_052937		52733245	-1			no_errors	ENST00000360540	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	52733245	G	T	52733245	3	4	32	1	0	0	0	0	1	0	0	0	11625	971	34	3	337	3	PCMTD1	8	52733245	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	29727209	52733245	93630777	93	7672											
C8orf45	157777	genome.wustl.edu	37	chr8	67793086	67793086	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttaataattttagatGaatcagtgaataaaatgaat	17	16	6	2	0	2	4	1	3	1	1	2	4	2	4	0	0	0	0	0	0	8	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:67793086G>T	ENST00000422365.2	+	8	883	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	MCMDC2_ENST00000492775.1_Nonsense_Mutation_p.E238*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.E238*|MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.E175*|MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.E238*	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	238					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						AATTTTAGATGAATCAGTGAA	0.279																																																	0													18	20	19					8																	67793086		2148	4193	6341	SO:0001587	stop_gained	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.712G>T	8.37:g.67793086G>T	ENSP00000413632:p.Glu238*		B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Nonsense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	p.E238*	ENST00000422365.2	37	c.712	CCDS6197.2	8	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951869	0.92660	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616;ENST00000541540	.	.	.	5.86	5.86	0.93980	.	0.047637	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.2882	20.259	0.98436	0.0:0.0:1.0:0.0	.	.	.	.	X	110;238;238;238;238;175	.	ENSP00000317234:E238X	E	+	1	0	C8orf45	67955640	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.193000	0.77780	2.793000	0.96121	0.644000	0.83932	GAA	MCMDC2	-	superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase	ENSG00000178460		0.279	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	-	0	39	0	G	NM_173518		67793086	1	tier1	-	no_errors	ENST00000422365	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	67793086	G	T	67793086	4	4	32	1	0	0	0	0	0	1	0	0	2437	1291	45	3	738	3	C8orf45	8	67793086	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	15059841	67793086	78570936	94	7673											
MMP16	4325	genome.wustl.edu	37	chr8	89179938	89179938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtccatggctcatctgaGtcaaaatgggtatctcctcc	9	12	9	11	0	4	1	2	1	2	0	7	1	6	1	3	2	0	2	3	2	3	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:89179938G>T	ENST00000286614.6	-	4	950	c.669C>A	c.(667-669)gaC>gaA	p.D223E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	223					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GCTCATCTGAGTCAAAATGGG	0.413																																																	0													95	82	86					8																	89179938		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.669C>A	8.37:g.89179938G>T	ENSP00000286614:p.Asp223Glu		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D223E	ENST00000286614.6	37	c.669	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982427	0.74474	.	.	ENSG00000156103	ENST00000286614	T	0.38240	1.15	5.54	-0.257	0.12979	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.086436	0.85682	D	0.000000	T	0.67720	0.2923	H	0.97131	3.945	0.58432	D	0.999999	D;D	0.63046	0.976;0.992	P;D	0.70935	0.833;0.971	T	0.75513	-0.3291	10	0.87932	D	0	.	11.848	0.52395	0.398:0.0:0.602:0.0	.	223;223	P51512-2;P51512	.;MMP16_HUMAN	E	223	ENSP00000286614:D223E	ENSP00000286614:D223E	D	-	3	2	MMP16	89249054	1.000000	0.71417	0.940000	0.37924	0.996000	0.88848	2.376000	0.44292	-0.008000	0.14320	0.650000	0.86243	GAC	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000156103		0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2		0	56	0	G	NM_005941		89179938	-1			no_errors	ENST00000286614	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	89179938	G	T	89179938	3	4	32	1	0	0	0	0	1	0	0	0	9693	1020	36	3	1338	3	MMP16	8	89179938	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	21386852	89179938	57184084	95	7674											
RUNX1T1	862	genome.wustl.edu	37	chr8	92983023	92983023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccgctccgcctcagacaCggccttctgcagctccgtca	5	10	8	18	4	3	1	2	0	1	1	6	1	6	1	5	1	2	3	5	1	0	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:92983023C>T	ENST00000523629.1	-	11	1856	c.1402G>A	c.(1402-1404)Gtg>Atg	p.V468M	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V431M|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V468M|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V479M|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V431M|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V441M|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V431M|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V441M	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	468					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V431M(1)|p.V468M(1)|p.V479M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTCAGACACGGCCTTCTGC	0.617																																																	3	Substitution - Missense(3)	endometrium(3)											80	63	69					8																	92983023		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1402G>A	8.37:g.92983023C>T	ENSP00000428543:p.Val468Met		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.V479M	ENST00000523629.1	37	c.1435	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.370244	0.95900	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;P;D	0.97110	1.0;0.999;0.838;0.998	T	0.74272	-0.3719	10	0.87932	D	0	-13.8439	20.2182	0.98305	0.0:1.0:0.0:0.0	.	479;431;468;441	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	M	468;441;468;431;431;431;479;441	ENSP00000428543:V468M;ENSP00000379520:V441M;ENSP00000265814:V468M;ENSP00000353504:V431M;ENSP00000390137:V431M;ENSP00000428742:V431M;ENSP00000402257:V479M;ENSP00000430728:V441M	ENSP00000265814:V468M	V	-	1	0	RUNX1T1	93052199	1.000000	0.71417	0.976000	0.42696	0.917000	0.54804	7.818000	0.86416	2.785000	0.95823	0.655000	0.94253	GTG	RUNX1T1	-	prints_ETO	ENSG00000079102		0.617	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0	27	0	C	NM_004349, NM_175635		92983023	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	T	T	92983023	C	T	92983023	3	4	32	1	0	0	0	0	1	0	0	0	13792	536	19	1	420	1	RUNX1T1	8	92983023	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	3803085	92983023	53380999	96	7675											
TMEM67	91147	genome.wustl.edu	37	chr8	94777867	94777867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatttcagctgcacgttatgGagaagttgtgagtatgtttc	10	15	11	5	1	1	2	1	1	0	1	2	3	1	2	0	1	2	6	0	1	4	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:94777867G>T	ENST00000453321.3	+	6	702	c.644G>T	c.(643-645)gGa>gTa	p.G215V	TMEM67_ENST00000409623.3_Missense_Mutation_p.G134V	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	215					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GCACGTTATGGAGAAGTTGTG	0.343																																																	0													151	154	153					8																	94777867		2203	4300	6503	SO:0001583	missense	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.644G>T	8.37:g.94777867G>T	ENSP00000389998:p.Gly215Val		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.G215V	ENST00000453321.3	37	c.644	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628330	0.46944	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97209	-4.29;-4.29;-4.29	5.73	4.85	0.62838	.	0.378221	0.29932	N	0.010823	D	0.95611	0.8573	L	0.54323	1.7	0.58432	D	0.999998	B;B	0.28584	0.007;0.216	B;B	0.32928	0.008;0.155	D	0.94264	0.7505	10	0.56958	D	0.05	-7.5061	14.3513	0.66705	0.0:0.1617:0.8383:0.0	.	215;134	Q5HYA8;G5E9H2	MKS3_HUMAN;.	V	112;215;134	ENSP00000388671:G112V;ENSP00000389998:G215V;ENSP00000386966:G134V	ENSP00000314488:G205V	G	+	2	0	TMEM67	94847043	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.881000	0.48538	1.387000	0.46486	0.591000	0.81541	GGA	TMEM67	-	pfam_Meckelin	ENSG00000164953		0.343	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2		0	67	0	G	NM_153704		94777867	1			no_errors	ENST00000453321	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	94777867	G	T	94777867	3	4	32	1	0	0	0	0	1	0	0	0	16243	1174	41	3	804	3	TMEM67	8	94777867	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1794844	94777867	51586155	97	7676											
ZNF623	9831	genome.wustl.edu	37	chr8	144733440	144733440	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgcagttattgtgggaaAggctttattcagaggtcaaa	11	13	13	4	0	2	1	2	0	0	1	2	2	2	2	0	3	1	3	0	3	4	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:144733440A>G	ENST00000501748.2	+	1	1487	c.1398A>G	c.(1396-1398)aaA>aaG	p.K466K	ZNF623_ENST00000458270.2_Silent_p.K426K|ZNF623_ENST00000526926.1_Silent_p.K426K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATTGTGGGAAAGGCTTTATTC	0.418																																																	0													98	94	95					8																	144733440		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1398A>G	8.37:g.144733440A>G			A4FU80|B4DGP3|E7ENV5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K466	ENST00000501748.2	37	c.1398	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	a	5.172	0.217366	0.09810	.	.	ENSG00000183309	ENST00000328466	.	.	.	4.65	-0.535	0.11879	.	.	.	.	.	T	0.61825	0.2378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61118	-0.7127	5	0.72032	D	0.01	-22.9793	8.1943	0.31387	0.6487:0.0:0.3513:0.0	.	.	.	.	R	426	.	ENSP00000330358:K426R	K	+	2	0	ZNF623	144804583	0.000000	0.05858	0.994000	0.49952	0.598000	0.36846	-0.846000	0.04336	-0.263000	0.09378	-0.490000	0.04691	AAG	ZNF623	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183309		0.418	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	-	0	39	0	A	NM_014789		144733440	1	tier1	-	no_errors	ENST00000501748	ensembl	human	known	74_37	silent	33.33	18	9	SNP	0.983	G	G	144733440	A	G	144733440	2	3	32	1	0	0	0	0	0	0	0	1	18095	69	3	4		4	ZNF623	8	144733440	Silent	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	49955573	144733440	1630582	98	7677											
SCRIB	23513	genome.wustl.edu	37	chr8	144893398	144893398	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaggcggttgtccctcaAggagaggacgctgagtgcca	8	6	16	11	2	1	2	1	1	0	1	2	4	2	3	3	5	1	2	3	5	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr8:144893398A>T	ENST00000320476.3	-	10	1030	c.1024T>A	c.(1024-1026)Ttg>Atg	p.L342M	SCRIB_ENST00000377533.3_Missense_Mutation_p.L261M|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.L342M	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	342	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTGTCCCTCAAGGAGAGGACG	0.667																																					Pancreas(51;966 1133 10533 14576 29674)												0													30	25	26					8																	144893398		2199	4297	6496	SO:0001583	missense	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1024T>A	8.37:g.144893398A>T	ENSP00000322938:p.Leu342Met		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.L342M	ENST00000320476.3	37	c.1024	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888516	0.33348	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.70164	1.64;-0.46;1.1	3.28	-0.443	0.12249	.	.	.	.	.	T	0.72961	0.3526	M	0.66560	2.04	0.48511	D	0.999669	D;D	0.76494	0.999;0.961	D;P	0.73708	0.981;0.848	T	0.70051	-0.4978	9	0.87932	D	0	.	3.54	0.07807	0.3086:0.2487:0.4427:0.0	.	342;342	Q14160;Q14160-3	SCRIB_HUMAN;.	M	342;342;261	ENSP00000349486:L342M;ENSP00000322938:L342M;ENSP00000366756:L261M	ENSP00000322938:L342M	L	-	1	2	SCRIB	144965386	0.005000	0.15991	0.242000	0.24170	0.002000	0.02628	0.020000	0.13466	0.050000	0.15949	-0.460000	0.05396	TTG	SCRIB	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000180900		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1		0	29	0	A	NM_015356		144893398	-1			no_errors	ENST00000320476	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.831	T	T	144893398	A	T	144893398	3	4	32	1	0	0	0	0	1	0	0	0	13982	69	3	5	4055	5	SCRIB	8	144893398	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	159958	144893398	1470624	99	7678											
IFNA4	3441	genome.wustl.edu	37	chr9	21187114	21187114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttcctcacagccaggatGgagtcctcattcatcagggg	9	11	10	11	0	4	0	4	0	0	0	6	2	6	2	3	4	1	0	3	4	1	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr9:21187114G>A	ENST00000421715.1	-	1	484	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	139					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGCCAGGATGGAGTCCTCAT	0.448																																					NSCLC(154;890 1986 23660 27800 51138)												0													53	55	54					9																	21187114		2191	4272	6463	SO:0001819	synonymous_variant	0				CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"Interferons"	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.417C>T	9.37:g.21187114G>A			P13358|Q14CS4|Q5VV15	Silent	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.S139	ENST00000421715.1	37	c.417	CCDS6498.1	9																																																																																			IFNA4	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta	ENSG00000236637		0.448	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA4	HGNC	protein_coding	OTTHUMT00000051889.1	-	0	113	0	G	NM_021068		21187114	-1	tier1	-	no_errors	ENST00000421715	ensembl	human	known	74_37	silent	48.00	39	36	SNP	0.020	A	A	21187114	G	A	21187114	2	1	32	1	0	0	0	0	0	0	0	1	7566	1335	47	3		3	IFNA4	9	21187114	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		21187114	120026317	100	7679											
DCAF10	79269	genome.wustl.edu	37	chr9	37842093	37842093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttttatagatttcttGataaccggctgtttgctacc	7	18	7	9	1	2	2	0	1	2	1	2	2	2	2	2	1	4	4	2	1	4	8			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr9:37842093G>T	ENST00000377724.3	+	3	1026	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	DCAF10_ENST00000242323.7_Missense_Mutation_p.D221Y|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	221					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TAGATTTCTTGATAACCGGCT	0.353																																																	0													126	113	118					9																	37842093		2203	4300	6503	SO:0001583	missense	0			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	23686	protein-coding gene	gene with protein product			"WD repeat domain 32"	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.661G>T	9.37:g.37842093G>T	ENSP00000366953:p.Asp221Tyr		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D221Y	ENST00000377724.3	37	c.661	CCDS6613.2	9	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442063	0.83993	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.60797	0.16;0.16	5.49	5.49	0.81192	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.82380	-0.0486	10	0.87932	D	0	.	16.8749	0.86050	0.0:0.0:1.0:0.0	.	221;221	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	Y	221	ENSP00000366953:D221Y;ENSP00000242323:D221Y	ENSP00000242323:D221Y	D	+	1	0	DCAF10	37832093	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.447000	0.97595	2.591000	0.87537	0.655000	0.94253	GAT	DCAF10	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000122741		0.353	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF10	HGNC	protein_coding	OTTHUMT00000052485.2	-	0	42	0	G	NM_024345		37842093	1	tier1	-	no_errors	ENST00000377724	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	37842093	G	T	37842093	3	4	32	1	0	0	0	0	1	0	0	0	4270	1290	45	3	671	3	DCAF10	9	37842093	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	16654979	37842093	103371338	101	7680											
C9orf79	286234	genome.wustl.edu	37	chr9	90503680	90503680	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaatggcaagcacctcGggcggcccccatccacagct	10	4	10	17	2	0	1	0	0	0	1	2	1	1	1	5	3	2	3	5	3	3	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr9:90503680G>T	ENST00000325643.5	+	4	4344	c.4278G>T	c.(4276-4278)tcG>tcT	p.S1426S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1426					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAAGCACCTCGGGCGGCCCCC	0.622																																																	0													24	28	26					9																	90503680		2202	4296	6498	SO:0001819	synonymous_variant	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.4278G>T	9.37:g.90503680G>T			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.S1426	ENST00000325643.5	37	c.4278	CCDS6676.1	9																																																																																			SPATA31E1	-	NULL	ENSG00000177992		0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0	38	0	G	NM_178828		90503680	1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.000	T	T	90503680	G	T	90503680	2	4	32	1	0	0	0	0	0	0	0	1	2504	1103	39	2		2	C9orf79	9	90503680	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	52661587	90503680	50709751	102	7681											
FANCC	2176	genome.wustl.edu	37	chr9	98009794	98009794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcaatgactgtattaGaatcctgtgaaagaaaaata	17	13	6	5	0	2	4	1	2	1	2	3	4	3	4	1	0	0	1	1	0	8	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr9:98009794G>T	ENST00000289081.3	-	3	424	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	FANCC_ENST00000375305.1_Missense_Mutation_p.S57Y	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	57					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GACTGTATTAGAATCCTGTGA	0.343			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0													82	87	86					9																	98009794		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.170C>A	9.37:g.98009794G>T	ENSP00000289081:p.Ser57Tyr		B1ALR8	Missense_Mutation	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.S57Y	ENST00000289081.3	37	c.170	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.137905	0.00335	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.61859	0.07;0.07;0.07	5.35	2.34	0.29019	.	0.663520	0.15470	N	0.260670	T	0.57858	0.2082	L	0.59436	1.845	0.18873	N	0.999988	P;P	0.42871	0.792;0.792	P;P	0.50490	0.642;0.642	T	0.43475	-0.9389	10	0.26408	T	0.33	-0.7254	6.2669	0.20932	0.2462:0.1391:0.6147:0.0	.	57;57	B1ALR7;Q00597	.;FANCC_HUMAN	Y	57	ENSP00000289081:S57Y;ENSP00000364454:S57Y;ENSP00000406908:S57Y	ENSP00000289081:S57Y	S	-	2	0	FANCC	97049615	0.998000	0.40836	0.825000	0.32803	0.071000	0.16799	2.923000	0.48868	0.847000	0.35167	-0.310000	0.09108	TCT	FANCC	-	pfam_Fanconi,pirsf_Fanconi	ENSG00000158169		0.343	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1		0	27	0	G	NM_000136		98009794	-1			no_errors	ENST00000289081	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.058	T	T	98009794	G	T	98009794	3	4	32	1	0	0	0	0	1	0	0	0	5686	942	33	3	1558	3	FANCC	9	98009794	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	7506114	98009794	43203637	103	7682											
FAM129B	64855	genome.wustl.edu	37	chr9	130271337	130271337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcccgtccagtcgcAgcgactccatcttctcatag	7	9	9	16	3	2	0	1	0	2	0	6	1	4	0	3	0	3	3	3	0	1	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr9:130271337A>G	ENST00000373312.3	-	10	1448	c.1235T>C	c.(1234-1236)cTg>cCg	p.L412P	FAM129B_ENST00000373314.3_Missense_Mutation_p.L399P|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	412					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GTCCAGTCGCAGCGACTCCAT	0.637																																																	0													78	57	64					9																	130271337		2203	4300	6503	SO:0001583	missense	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1235T>C	9.37:g.130271337A>G	ENSP00000362409:p.Leu412Pro		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.L412P	ENST00000373312.3	37	c.1235	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542713	0.65198	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.31769	1.48;1.48	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.989;0.981	T	0.58725	-0.7586	10	0.87932	D	0	-18.0217	13.8666	0.63592	1.0:0.0:0.0:0.0	.	62;399;412	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	P	399;62;412	ENSP00000362411:L399P;ENSP00000362409:L412P	ENSP00000362409:L412P	L	-	2	0	FAM129B	129311158	1.000000	0.71417	0.998000	0.56505	0.299000	0.27559	8.826000	0.92034	2.166000	0.68216	0.459000	0.35465	CTG	FAM129B	-	NULL	ENSG00000136830		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1		0	57	0	A	NM_022833		130271337	-1			no_errors	ENST00000373312	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	G	G	130271337	A	G	130271337	3	3	32	1	0	0	0	0	1	0	0	0	5456	188	7	4	1025	4	FAM129B	9	130271337	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	32261543	130271337	10942094	104	7683											
C9orf50	375759	genome.wustl.edu	37	chr9	132382092	132382092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctaatacacccctttgatGttgcggtgctggggatgctg	6	13	12	10	1	1	1	0	1	1	0	1	2	1	2	2	3	4	3	2	3	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr9:132382092G>T	ENST00000372478.4	-	2	727	c.526C>A	c.(526-528)Cat>Aat	p.H176N	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	176										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CCCCTTTGATGTTGCGGTGCT	0.592																																																	0													155	147	150					9																	132382092		2203	4300	6503	SO:0001583	missense	0			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.526C>A	9.37:g.132382092G>T	ENSP00000361556:p.His176Asn		Q2M1I2|Q8NA65	Missense_Mutation	SNP	NULL	p.H176N	ENST00000372478.4	37	c.526	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216800	0.22373	.	.	ENSG00000179058	ENST00000372478	T	0.17691	2.26	3.57	-1.75	0.08031	.	0.928117	0.08846	N	0.885169	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B	0.20052	0.041	B	0.23574	0.047	T	0.40136	-0.9579	10	0.07482	T	0.82	-0.8749	0.6953	0.00898	0.3047:0.1666:0.3582:0.1705	.	176	Q5SZB4	CI050_HUMAN	N	176	ENSP00000361556:H176N	ENSP00000361556:H176N	H	-	1	0	C9orf50	131421913	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.441000	0.21611	-0.365000	0.08076	0.579000	0.79373	CAT	C9orf50	-	NULL	ENSG00000179058		0.592	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1		0	41	0	G	NM_199350		132382092	-1			no_errors	ENST00000372478	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	132382092	G	T	132382092	3	4	32	1	0	0	0	0	1	0	0	0	2494	1377	48	3	793	3	C9orf50	9	132382092	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	2110755	132382092	8831339	105	7684											
ASB6	140459	genome.wustl.edu	37	chr9	132400881	132400881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaagagacgaatgttctcaGtattgtggatctgcaccccg	10	11	11	9	2	2	1	1	0	2	1	3	4	2	2	2	1	1	4	2	1	3	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr9:132400881G>T	ENST00000277458.4	-	5	734	c.569C>A	c.(568-570)aCt>aAt	p.T190N	ASB6_ENST00000450050.2_Missense_Mutation_p.T111N|ASB6_ENST00000277459.4_Missense_Mutation_p.L154M|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	190					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				AATGTTCTCAGTATTGTGGAT	0.602																																																	0													81	67	72					9																	132400881		2203	4300	6503	SO:0001583	missense	0				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.569C>A	9.37:g.132400881G>T	ENSP00000277458:p.Thr190Asn		Q5SZB7|Q9BV15	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.T190N	ENST00000277458.4	37	c.569	CCDS6924.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.60|17.60	3.430262|3.430262	0.62844|0.62844	.|.	.|.	ENSG00000148331|ENSG00000148331	ENST00000277459|ENST00000277458;ENST00000450050	T|T;T	0.59083|0.53857	0.29|0.6;0.6	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Ankyrin repeat-containing domain (4);	.|0.163751	.|0.53938	.|D	.|0.000042	T|T	0.59945|0.59945	0.2231|0.2231	.|.	.|.	.|.	0.48236|0.48236	D|D	0.999615|0.999615	P|D;D	0.41569|0.59767	0.755|0.986;0.986	B|P;P	0.41036|0.57679	0.346|0.825;0.825	T|T	0.57118|0.57118	-0.7866|-0.7866	8|9	0.66056|0.33141	D|T	0.02|0.24	-14.7358|-14.7358	10.3948|10.3948	0.44194|0.44194	0.0891:0.0:0.9109:0.0|0.0891:0.0:0.9109:0.0	.|.	154|111;190	Q9NWX5-2|B4DRC4;Q9NWX5	.|.;ASB6_HUMAN	M|N	154|190;111	ENSP00000277459:L154M|ENSP00000277458:T190N;ENSP00000416172:T111N	ENSP00000277459:L154M|ENSP00000277458:T190N	L|T	-|-	1|2	2|0	ASB6|ASB6	131440702|131440702	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.811000|0.811000	0.45836|0.45836	5.228000|5.228000	0.65310|0.65310	2.418000|2.418000	0.82041|0.82041	0.561000|0.561000	0.74099|0.74099	CTG|ACT	ASB6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148331		0.602	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB6	HGNC	protein_coding	OTTHUMT00000054594.1	-	0	44	0	G	NM_017873		132400881	-1	tier1	-	no_errors	ENST00000277458	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.985	T	T	132400881	G	T	132400881	3	4	32	1	0	0	0	0	1	0	0	0	1028	1029	36	3	704	3	ASB6	9	132400881	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	18789	132400881	8812550	106	7685											
FAM107B	83641	genome.wustl.edu	37	chr10	14816271	14816271	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcgtgtcaataattGatggtctggggatggaagcg	8	11	16	6	2	2	1	1	1	1	0	2	3	2	3	1	5	1	0	1	5	3	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr10:14816271G>T	ENST00000181796.2	-	1	625	c.392C>A	c.(391-393)tCa>tAa	p.S131*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCAATAATTGATGGTCTGGG	0.577																																																	0													100	80	87					10																	14816271		2203	4300	6503	SO:0001587	stop_gained	0			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.392C>A	10.37:g.14816271G>T	ENSP00000181796:p.Ser131*		A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	pfam_DUF1151	p.S131*	ENST00000181796.2	37	c.392	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.472216	0.96274	.	.	ENSG00000065809	ENST00000181796	.	.	.	4.71	4.71	0.59529	.	0.485489	0.15295	N	0.269934	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.0839	15.6098	0.76707	0.0:0.0:1.0:0.0	.	.	.	.	X	131	.	ENSP00000181796:S131X	S	-	2	0	FAM107B	14856277	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	5.965000	0.70387	2.449000	0.82847	0.561000	0.74099	TCA	FAM107B	-	NULL	ENSG00000065809		0.577	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	-	0	29	0	G	NM_031453		14816271	-1	tier1	-	no_errors	ENST00000181796	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	14816271	G	T	14816271	4	4	32	1	0	0	0	0	0	1	0	0	5409	1294	45	3	548	3	FAM107B	10	14816271	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		14816271	120718476	107	7686											
KIF5B	3799	genome.wustl.edu	37	chr10	32324841	32324841	+	Frame_Shift_Del	DEL	T	T	-																															accctcagccaaagcagaaaTaacatttccaagagcagaaa																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr10:32324841delT	ENST00000302418.4	-	9	1250	c.793delA	c.(793-795)attfs	p.I265fs		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	265	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AAAGCAGAAATAACATTTCCA	0.388			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													115	105	109					10																	32324841		2203	4300	6503	SO:0001589	frameshift_variant	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.793delA	10.37:g.32324841delT	ENSP00000307078:p.Ile265fs		A0AVB2|Q5VZ85	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I265fs	ENST00000302418.4	37	c.793	CCDS7171.1	10																																																																																			KIF5B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000170759		0.388	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1		0	50	0	T	NM_004521		32324841	-1	tier1		no_errors	ENST00000302418	ensembl	human	known	74_37	frame_shift_del	40.00	30	20	DEL	1.000	-	-	32324841	T	-	32324841	7	5	32	1	0	1	0	1	0	0	0	0	8333	1406	49	0	2166	0	KIF5B	10	32324841	Frame_Shift_Del	DEL	T	TCGA-IG-A97H-01A-11D-A387-09	17508570	32324841	103209906	108	7687											
RBP3	5949	genome.wustl.edu	37	chr10	48381934	48381934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgcaggcctgggctccGcttcaccctcagctggttgt	3	11	12	15	1	2	0	2	0	0	0	4	0	4	0	4	3	2	5	4	3	0	2	rs111792211		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr10:48381934G>A	ENST00000224600.4	-	4	3828	c.3715C>T	c.(3715-3717)Cgg>Tgg	p.R1239W		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1239					lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGGCTCCGCTTCACCCTC	0.647													G|||	1	0.000199681	0	0	5008	,	,		15606	0		0	False		,,,				2504	0.001																0													36	33	34					10																	48381934		2203	4300	6503	SO:0001583	missense	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3715C>T	10.37:g.48381934G>A	ENSP00000224600:p.Arg1239Trp		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.R1239W	ENST00000224600.4	37	c.3715	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344147	0.41498	.	.	ENSG00000107618	ENST00000224600	T	0.65549	-0.16	5.49	0.978	0.19740	.	0.616801	0.13471	N	0.385452	T	0.43634	0.1256	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37549	-0.9701	10	0.87932	D	0	-12.0112	6.0907	0.19993	0.2525:0.0:0.6108:0.1367	.	1239	P10745	RET3_HUMAN	W	1239	ENSP00000224600:R1239W	ENSP00000224600:R1239W	R	-	1	2	RBP3	48001940	0.000000	0.05858	0.002000	0.10522	0.111000	0.19643	0.213000	0.17521	0.287000	0.22375	0.655000	0.94253	CGG	RBP3	-	NULL	ENSG00000107618		0.647	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1		0	27	0	G	NM_002900		48381934	-1			no_errors	ENST00000224600	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.000	A	A	48381934	G	A	48381934	3	1	32	1	0	0	0	0	1	0	0	0	13202	1086	38	1	32	1	RBP3	10	48381934	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	16057093	48381934	87152813	109	7688											
SNCG	6623	genome.wustl.edu	37	chr10	88719881	88719881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctccggggtggtgcGcaaggtgagccccggccctc	4	6	16	15	3	1	1	1	1	0	0	3	1	2	1	5	6	2	1	5	6	1	0	rs371074090		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr10:88719881G>A	ENST00000372017.3	+	3	329	c.287G>A	c.(286-288)cGc>cAc	p.R96H	SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_Silent_p.A113A|MMRN2_ENST00000372027.5_5'Flank	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	96					adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						GGGGTGGTGCGCAAGGTGAGC	0.672																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	62	65		287	2.8	1	10		65	0,8600		0,0,4300	no	missense	SNCG	NM_003087.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	96/128	88719881	1,13005	2203	4300	6503	SO:0001583	missense	0			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"synoretin"	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.287G>A	10.37:g.88719881G>A	ENSP00000361087:p.Arg96His		O15104|Q96P61	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma	p.R96H	ENST00000372017.3	37	c.287	CCDS7380.1	10	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630795	0.46944	2.27E-4	0.0	ENSG00000173267	ENST00000372017	D	0.84146	-1.81	4.69	2.8	0.32819	.	0.229092	0.39834	N	0.001257	T	0.75583	0.3869	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.65643	-0.6118	10	0.59425	D	0.04	-19.0272	6.2121	0.20636	0.3986:0.0:0.6014:0.0	.	96	O76070	SYUG_HUMAN	H	96	ENSP00000361087:R96H	ENSP00000361087:R96H	R	+	2	0	SNCG	88709861	0.008000	0.16893	0.995000	0.50966	0.932000	0.56968	0.753000	0.26376	0.561000	0.29186	0.561000	0.74099	CGC	SNCG	-	pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma	ENSG00000173267		0.672	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	-	0	29	0	G			88719881	1	tier1	-	no_errors	ENST00000372017	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.052	A	A	88719881	G	A	88719881	3	1	32	1	0	0	0	0	1	0	0	0	14888	1087	38	1	297	1	SNCG	10	88719881	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	40337947	88719881	46814866	110	7689											
TCF7L2	6934	genome.wustl.edu	37	chr10	114911604	114911604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgtagctgagtgcacgttGaaagaaagcgcggccatcaa	12	7	13	9	4	1	3	1	2	0	1	2	3	1	3	1	1	3	4	1	1	4	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr10:114911604G>A	ENST00000355995.4	+	10	1629	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.L374L|TCF7L2_ENST00000534894.1_Silent_p.L374L|TCF7L2_ENST00000538897.1_Silent_p.L374L|TCF7L2_ENST00000369386.1_Silent_p.L17L|TCF7L2_ENST00000545257.1_Silent_p.L374L|TCF7L2_ENST00000352065.5_Silent_p.L351L|TCF7L2_ENST00000369389.1_Silent_p.L85L|TCF7L2_ENST00000355717.4_Silent_p.L398L|TCF7L2_ENST00000542695.1_Silent_p.L90L|TCF7L2_ENST00000369397.4_Silent_p.L351L|TCF7L2_ENST00000543371.1_Silent_p.L374L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	374	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGTGCACGTTGAAAGAAAGCG	0.522			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													71	69	70					10																	114911604		2203	4300	6503	SO:0001819	synonymous_variant	0			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1122G>A	10.37:g.114911604G>A			B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.L374	ENST00000355995.4	37	c.1122		10																																																																																			TCF7L2	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000148737		0.522	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding			0	53	0	G	NM_030756		114911604	1			no_errors	ENST00000355995	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	114911604	G	A	114911604	2	1	32	1	0	0	0	0	0	0	0	1	15745	1281	45	3		3	TCF7L2	10	114911604	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	26191723	114911604	20623143	111	7690											
PDZD8	118987	genome.wustl.edu	37	chr10	119100615	119100615	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaaaacggcttaaaccTgacaaaagtaaagataagtc	20	7	8	6	1	0	2	0	1	0	1	1	3	0	3	1	2	2	2	1	2	10	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr10:119100615T>C	ENST00000334464.5	-	2	1112		c.e2-2			NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8						cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GGCTTAAACCTGACAAAAGTA	0.358																																																	0													106	97	100					10																	119100615		2203	4300	6503	SO:0001630	splice_region_variant	0			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.873-2A>G	10.37:g.119100615T>C			Q86WE0|Q86WE5|Q9UFF1	Splice_Site	SNP	-	e2-2	ENST00000334464.5	37	c.873-2	CCDS7600.1	10	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218658	0.58560	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.593	0.56453	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDZD8	119090605	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.196000	0.58407	2.288000	0.76882	0.482000	0.46254	.	PDZD8	-	-	ENSG00000165650		0.358	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD8	HGNC	protein_coding	OTTHUMT00000050565.1	-	0	74	0	T	NM_173791	Intron	119100615	-1	tier1	-	no_errors	ENST00000334464	ensembl	human	known	74_37	splice_site	6.06	62	4	SNP	1.000	C	C	119100615	T	C	119100615	5	2	32	1	0	0	0	0	0	0	1	0	11744	1594	55	4	2609	4	PDZD8	10	119100615	Splice_Site	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	4189011	119100615	16434132	112	7691											
RASSF7	8045	genome.wustl.edu	37	chr11	562263	562263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagacagctgtccacccccGgaacgctgcctaattcgtgc	8	8	9	16	3	1	1	1	0	0	1	3	2	2	2	4	1	4	2	4	1	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:562263G>A	ENST00000397583.3	+	3	742	c.309G>A	c.(307-309)ccG>ccA	p.P103P	RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000454668.2_Silent_p.P103P|RASSF7_ENST00000431809.1_Silent_p.P103P|RASSF7_ENST00000344375.4_Silent_p.P103P|RASSF7_ENST00000397582.3_Silent_p.P103P|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527620.1_RNA	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	103					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCACCCCCGGAACGCTGCC	0.662																																					Pancreas(184;1170 3913 7268)												0													43	43	43					11																	562263		2202	4300	6502	SO:0001819	synonymous_variant	0			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.309G>A	11.37:g.562263G>A			G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	NULL	p.G102R	ENST00000397583.3	37	c.304	CCDS7702.1	11																																																																																			RASSF7	-	NULL	ENSG00000099849		0.662	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	-	0	31	0	G	NM_003475		562263	1	tier1	-	no_errors	ENST00000414138	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.000	A	A	562263	G	A	562263	2	1	32	1	0	0	0	0	0	0	0	1	13136	1103	39	1		1	RASSF7	11	562263	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		562263	134444253	113	7692											
AP2A2	161	genome.wustl.edu	37	chr11	926053	926053	+	Frame_Shift_Del	DEL	G	G	-																															gtccaagggggacgggatgcGgggcctggcggtcttcatct																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:926053delG	ENST00000448903.2	+	1	173	c.32delG	c.(31-33)cggfs	p.R11fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.R11fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.R11fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	11	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GACGGGATGCGGGGCCTGGCG	0.776																																																	0													4	4	4					11																	926053		1644	3806	5450	SO:0001589	frameshift_variant	0			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.32delG	11.37:g.926053delG	ENSP00000413234:p.Arg11fs		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.G12fs	ENST00000448903.2	37	c.32	CCDS44512.1	11																																																																																			AP2A2	-	superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000183020		0.776	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2		0	15	0	G	NM_012305		926053	1	tier1		no_errors	ENST00000332231	ensembl	human	known	74_37	frame_shift_del	18.18	9	2	DEL	1.000	-	-	926053	G	-	926053	7	5	32	1	0	1	0	1	0	0	0	0	740	1116	39	0	34	0	AP2A2	11	926053	Frame_Shift_Del	DEL	G	TCGA-IG-A97H-01A-11D-A387-09	363790	926053	134080463	114	7693											
MUC6	4588	genome.wustl.edu	37	chr11	1025310	1025310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgtcaccccgagctgcaCgtggggctcctccccggtga	4	6	14	17	5	1	1	1	1	0	0	3	2	3	1	5	4	2	3	5	4	0	0	rs527440972		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:1025310C>T	ENST00000421673.2	-	23	2907	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	953	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGAGCTGCACGTGGGGCTCC	0.647													c|||	1	0.000199681	0	0.0014	5008	,	,		17847	0		0	False		,,,				2504	0																0													61	71	68					11																	1025310		2105	4221	6326	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2857G>A	11.37:g.1025310C>T	ENSP00000406861:p.Val953Met		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.V953M	ENST00000421673.2	37	c.2857	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642983	0.14451	.	.	ENSG00000184956	ENST00000421673	T	0.66995	-0.24	4.34	3.4	0.38934	von Willebrand factor, type D domain (3);	0.000000	0.28409	U	0.015452	T	0.78997	0.4372	M	0.86097	2.795	0.09310	N	1	D	0.89917	1.0	D	0.70935	0.971	T	0.67662	-0.5613	10	0.44086	T	0.13	.	6.4614	0.21958	0.0:0.6863:0.1648:0.1489	.	953	Q6W4X9	MUC6_HUMAN	M	953	ENSP00000406861:V953M	ENSP00000406861:V953M	V	-	1	0	MUC6	1015310	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	0.425000	0.21346	0.939000	0.37446	0.556000	0.70494	GTG	MUC6	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000184956		0.647	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	33	0	C	XM_290540		1025310	-1			no_errors	ENST00000421673	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.001	T	T	1025310	C	T	1025310	3	4	32	1	0	0	0	0	1	0	0	0	10018	536	19	1	4506	1	MUC6	11	1025310	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	99257	1025310	133981206	115	7694											
DNHD1	144132	genome.wustl.edu	37	chr11	6588195	6588195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaagtttctgcggaacaTagtgagggcccaaggaaagc	13	6	13	9	1	1	1	0	1	1	0	1	3	1	3	2	3	4	1	2	3	5	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:6588195T>C	ENST00000527990.2	+	34	11456	c.11456T>C	c.(11455-11457)aTa>aCa	p.I3819T	DNHD1_ENST00000254579.6_Missense_Mutation_p.I3819T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3819					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCGGAACATAGTGAGGGCC	0.522																																																	0													69	71	70					11																	6588195		2011	4169	6180	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11456T>C	11.37:g.6588195T>C	ENSP00000436180:p.Ile3819Thr		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.I3819T	ENST00000527990.2	37	c.11456	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	T	12.61	1.989193	0.35131	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.26223	1.75;1.75	4.51	4.51	0.55191	.	0.589267	0.15411	N	0.263760	T	0.14874	0.0359	N	0.08118	0	0.23950	N	0.996377	B;B;B	0.19817	0.039;0.023;0.016	B;B;B	0.16722	0.01;0.016;0.01	T	0.17289	-1.0374	10	0.87932	D	0	-1.3802	11.7325	0.51746	0.0:0.0:0.0:1.0	.	2907;87;3819	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	T	3819;3819;87;87	ENSP00000254579:I3819T;ENSP00000436180:I3819T	ENSP00000254579:I3819T	I	+	2	0	DNHD1	6544771	0.712000	0.27916	0.825000	0.32803	0.806000	0.45545	1.513000	0.35823	2.018000	0.59344	0.528000	0.53228	ATA	DNHD1	-	NULL	ENSG00000179532		0.522	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	31	0	T	NM_144666		6588195	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.879	C	C	6588195	T	C	6588195	3	2	32	1	0	0	0	0	1	0	0	0	4682	1406	49	4	11599	4	DNHD1	11	6588195	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	5562885	6588195	128418321	116	7695											
USH1C	10083	genome.wustl.edu	37	chr11	17531023	17531023	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcggaagggatggttGctcagtgcttcttccagcgc	6	10	14	11	2	2	0	1	0	1	0	3	2	3	2	2	3	4	3	2	3	1	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:17531023G>T	ENST00000318024.4	-	16	1393				USH1C_ENST00000005226.7_Missense_Mutation_p.S631R|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGGGATGGTTGCTCAGTGCTT	0.632																																																	0													75	69	71					11																	17531023		2200	4293	6493	SO:0001627	intron_variant	0			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"harmonin"	605242	"deafness, autosomal recessive 18"	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7496C>A	11.37:g.17531023G>T			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S631R	ENST00000318024.4	37	c.1893	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664820	0.29604	.	.	ENSG00000006611	ENST00000005226	T	0.42513	0.97	5.9	3.66	0.41972	.	0.353756	0.27397	N	0.019547	T	0.28863	0.0716	.	.	.	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.14587	-1.0467	9	0.37606	T	0.19	.	9.3089	0.37891	0.0862:0.0:0.7651:0.1488	.	631	Q7RTU8	.	R	631	ENSP00000005226:S631R	ENSP00000005226:S631R	S	-	3	2	USH1C	17487599	0.996000	0.38824	1.000000	0.80357	0.400000	0.30750	1.168000	0.31859	1.462000	0.47948	0.585000	0.79938	AGC	USH1C	-	NULL	ENSG00000006611		0.632	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	-	0	42	0	G	NM_005709		17531023	-1	tier1	-	no_errors	ENST00000005226	ensembl	human	known	74_37	missense	7.46	62	5	SNP	0.998	T	T	17531023	G	T	17531023	1	4	32	0	1	0	0	0	0	0	0	0	17083	1310	46	3		3	USH1C	11	17531023	Intron	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	10942828	17531023	117475493	117	7696											
HPS5	11234	genome.wustl.edu	37	chr11	18327774	18327774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaaagttcacttcccacatCctagagcctgggcgagcaca	11	8	8	14	1	2	1	2	0	0	1	4	2	4	1	3	1	2	2	3	1	2	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:18327774C>T	ENST00000349215.3	-	7	1009	c.732G>A	c.(730-732)agG>agA	p.R244R	HPS5_ENST00000531848.1_Silent_p.R130R|HPS5_ENST00000438420.2_Silent_p.R130R|HPS5_ENST00000396253.3_Silent_p.R130R	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	244					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTCCCACATCCTAGAGCCTG	0.458									Hermansky-Pudlak syndrome																																								0													107	103	104					11																	18327774		2199	4293	6492	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.732G>A	11.37:g.18327774C>T			A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.R244	ENST00000349215.3	37	c.732	CCDS7836.1	11																																																																																			HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.458	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0	74	0	C	NM_181507		18327774	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	silent	7.77	95	8	SNP	0.997	T	T	18327774	C	T	18327774	2	4	32	1	0	0	0	0	0	0	0	1	7369	854	30	3		3	HPS5	11	18327774	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	796751	18327774	116678742	118	7697											
MUC15	143662	genome.wustl.edu	37	chr11	26587287	26587287	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtttattttccattgttTtaaaaacttctgcaatgttc	10	20	5	6	0	1	0	0	0	1	0	3	0	2	0	1	1	2	4	1	1	6	10			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:26587287T>G	ENST00000455601.2	-	2	237	c.119A>C	c.(118-120)aAa>aCa	p.K40T	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.K67T|MUC15_ENST00000436318.2_Missense_Mutation_p.K67T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.K67T|MUC15_ENST00000281268.8_Missense_Mutation_p.K67T|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	40					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTCCATTGTTTTAAAAACTTC	0.338																																																	0													80	77	78					11																	26587287		2203	4300	6503	SO:0001583	missense	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.119A>C	11.37:g.26587287T>G	ENSP00000397339:p.Lys40Thr		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.K67T	ENST00000455601.2	37	c.200	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736422	0.49045	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.37752	1.37;1.33;1.18;1.33;1.18	4.61	2.02	0.26589	.	0.355546	0.24527	N	0.037742	T	0.42988	0.1227	L	0.46157	1.445	0.09310	N	1	D;D;D	0.67145	0.996;0.989;0.996	P;P;P	0.62813	0.907;0.728;0.866	T	0.17837	-1.0356	10	0.25106	T	0.35	-9.5721	8.4161	0.32672	0.0:0.0:0.3907:0.6093	.	67;40;67	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	T	40;67;67;67;67	ENSP00000397339:K40T;ENSP00000416753:K67T;ENSP00000281268:K67T;ENSP00000431983:K67T;ENSP00000431945:K67T	ENSP00000281268:K67T	K	-	2	0	MUC15	26543863	0.003000	0.15002	0.007000	0.13788	0.032000	0.12392	0.778000	0.26732	0.843000	0.35070	0.454000	0.30748	AAA	MUC15	-	NULL	ENSG00000169550		0.338	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	-	0	53	0	T	NM_145650		26587287	-1	tier1	-	no_errors	ENST00000436318	ensembl	human	known	74_37	missense	34.85	43	23	SNP	0.002	G	G	26587287	T	G	26587287	3	3	32	1	0	0	0	0	1	0	0	0	10010	1841	64	4	897	4	MUC15	11	26587287	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	8259513	26587287	108419229	119	7698											
ACCSL	390110	genome.wustl.edu	37	chr11	44080171	44080171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacaagctattgttatccCgtggcaaaacctacatgtgt	13	11	7	10	1	0	0	0	0	0	0	1	0	1	0	2	1	4	3	2	1	7	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:44080171C>T	ENST00000378832.1	+	13	1602	c.1546C>T	c.(1546-1548)Cgt>Tgt	p.R516C		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	516					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						ATTGTTATCCCGTGGCAAAAC	0.517																																																	0													97	98	98					11																	44080171		1887	4112	5999	SO:0001583	missense	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1546C>T	11.37:g.44080171C>T	ENSP00000368109:p.Arg516Cys			Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R516C	ENST00000378832.1	37	c.1546	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369558	0.24771	.	.	ENSG00000205126	ENST00000378832	T	0.22336	1.96	5.61	-11.1	0.00147	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.710899	0.14810	N	0.297115	T	0.02807	0.0084	N	0.00237	-1.79	0.09310	N	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.41161	-0.9524	10	0.27082	T	0.32	4.3006	6.6781	0.23106	0.3414:0.1524:0.0:0.5062	.	516	Q4AC99	1A1L2_HUMAN	C	516	ENSP00000368109:R516C	ENSP00000368109:R516C	R	+	1	0	ACCSL	44036747	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.332000	0.07904	-1.850000	0.01169	-1.910000	0.00522	CGT	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000205126		0.517	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	-	0	34	0	C	NM_001031854		44080171	1	tier1	-	no_errors	ENST00000378832	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.003	T	T	44080171	C	T	44080171	3	4	32	1	0	0	0	0	1	0	0	0	134	652	23	1	1596	1	ACCSL	11	44080171	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	17492884	44080171	90926345	120	7699											
CKAP5	9793	genome.wustl.edu	37	chr11	46765717	46765718	+	Frame_Shift_Ins	INS	-	-	AGCA																															gctgctcccgtgactcccggINSagctgagagagtttgctgtg																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:46765717_46765718insAGCA	ENST00000529230.1	-	44	6000_6001	c.5954_5955insTGCT	c.(5953-5955)ctcfs	p.-1985fs	CKAP5_ENST00000312055.5_Frame_Shift_Ins_p.-1925fs|CKAP5_ENST00000354558.3_Frame_Shift_Ins_p.-1925fs|CKAP5_ENST00000415402.1_Frame_Shift_Ins_p.-1992fs			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTGACTCCCGGAGCTGAGAGAG	0.535																																					Ovarian(4;85 273 2202 4844 13323)												0																																										SO:0001589	frameshift_variant	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5954_5955insTGCT	11.37:g.46765717_46765718insAGCA	ENSP00000432768:p.Leu1985fs		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Frame_Shift_Ins	INS	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.R1993fs	ENST00000529230.1	37	c.5976_5975	CCDS31477.1	11																																																																																			CKAP5	-	NULL	ENSG00000175216		0.535	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1		0	36	0	-	NM_014756		46765718	-1	tier1		no_errors	ENST00000415402	ensembl	human	known	74_37	frame_shift_ins	17.65	42	9	INS	1.000:1.000	AGCA	AGCA	46765718	-	AGCA	46765717	7	5	32	1	0	1	1	0	0	0	0	0	3452	1161	41	0	147	0	CKAP5	11	46765717	Frame_Shift_Ins	INS	-	TCGA-IG-A97H-01A-11D-A387-09	2685546	46765717	88240799	121	7700											
APLNR	187	genome.wustl.edu	37	chr11	57004102	57004102	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgatggccaggtagcggTcgaagctgaggccggtgagg	8	6	18	9	4	1	2	1	2	0	0	2	4	1	2	2	6	2	2	2	6	2	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:57004102T>G	ENST00000606794.1	-	1	573	c.377A>C	c.(376-378)gAc>gCc	p.D126A		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	126					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CAGGTAGCGGTCGAAGCTGAG	0.632																																																	0													39	30	33					11																	57004102		2200	4295	6495	SO:0001583	missense	0			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.377A>C	11.37:g.57004102T>G	ENSP00000475344:p.Asp126Ala			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.D126A	ENST00000606794.1	37	c.377	CCDS7950.1	11	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330236	0.81690	.	.	ENSG00000134817	ENST00000257254	D	0.85702	-2.02	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92951	0.7757	M	0.87328	2.875	0.58432	D	0.999994	D	0.89917	1.0	D	0.75484	0.986	D	0.93662	0.6982	10	0.54805	T	0.06	-43.6	15.1943	0.73075	0.0:0.0:0.0:1.0	.	126	P35414	APJ_HUMAN	A	126	ENSP00000257254:D126A	ENSP00000257254:D126A	D	-	2	0	APLNR	56760678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.233000	0.72320	2.068000	0.61886	0.454000	0.30748	GAC	APLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000134817		0.632	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	-	0	31	0	T	NM_005161		57004102	-1	tier1	-	no_errors	ENST00000257254	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	G	G	57004102	T	G	57004102	3	3	32	1	0	0	0	0	1	0	0	0	777	1667	58	4	769	4	APLNR	11	57004102	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	10238385	57004102	78002414	122	7701											
ASRGL1	80150	genome.wustl.edu	37	chr11	62105564	62105564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgggctacggcatcctcCgggagggcgggagcgccgtg	4	5	19	13	6	0	0	0	0	0	0	2	2	2	2	4	5	2	2	4	5	1	1	rs533515407		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:62105564C>T	ENST00000415229.2	+	2	330	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	ASRGL1_ENST00000301776.5_Missense_Mutation_p.R39W|ASRGL1_ENST00000535727.1_5'UTR|RP11-703H8.7_ENST00000400902.4_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	39					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	CGGCATCCTCCGGGAGGGCGG	0.642																																																	0													30	29	29					11																	62105564		2201	4298	6499	SO:0001583	missense	0				CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.115C>T	11.37:g.62105564C>T	ENSP00000400057:p.Arg39Trp		B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	pfam_Peptidase_T2	p.R39W	ENST00000415229.2	37	c.115	CCDS8019.1	11	.	.	.	.	.	.	.	.	.	.	c	13.23	2.175698	0.38413	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.87334	-2.24;-2.24	4.36	2.0	0.26442	.	0.598044	0.18140	N	0.150422	D	0.90535	0.7034	M	0.88181	2.935	0.20821	N	0.999841	D	0.62365	0.991	P	0.55303	0.773	T	0.82481	-0.0436	10	0.66056	D	0.02	-5.1118	4.4863	0.11792	0.6804:0.2116:0.108:0.0	.	39	Q7L266	ASGL1_HUMAN	W	39	ENSP00000400057:R39W;ENSP00000301776:R39W	ENSP00000301776:R39W	R	+	1	2	ASRGL1	61862140	0.006000	0.16342	0.423000	0.26634	0.050000	0.14768	1.768000	0.38511	0.225000	0.20959	-1.105000	0.02106	CGG	ASRGL1	-	pfam_Peptidase_T2	ENSG00000162174		0.642	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASRGL1	HGNC	protein_coding	OTTHUMT00000394865.1	-	0	32	0	C	NM_001083926		62105564	1	tier1	-	no_errors	ENST00000301776	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.107	T	T	62105564	C	T	62105564	3	4	32	1	0	0	0	0	1	0	0	0	1061	643	23	1	117	1	ASRGL1	11	62105564	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	5101462	62105564	72900952	123	7702											
AHNAK	79026	genome.wustl.edu	37	chr11	62284238	62284238	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctttctttgtggaaactGacagctccacctcgggaagc	9	11	9	12	1	2	1	0	1	2	0	4	3	3	3	2	2	3	1	2	2	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:62284238G>T	ENST00000378024.4	-	5	17925	c.17651C>A	c.(17650-17652)tCa>tAa	p.S5884*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5884					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTGGAAACTGACAGCTCCAC	0.463																																																	0													115	117	116					11																	62284238		2202	4299	6501	SO:0001587	stop_gained	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17651C>A	11.37:g.62284238G>T	ENSP00000367263:p.Ser5884*		A1A586	Nonsense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S5884*	ENST00000378024.4	37	c.17651	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	57	29.453942	0.99975	.	.	ENSG00000124942	ENST00000378024	.	.	.	5.09	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.27739	N	0.944542	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5478	8.3638	0.32374	0.0869:0.0:0.7609:0.1522	.	.	.	.	X	5884	.	ENSP00000367263:S5884X	S	-	2	0	AHNAK	62040814	0.249000	0.23941	0.000000	0.03702	0.923000	0.55619	3.237000	0.51344	0.467000	0.27218	0.549000	0.68633	TCA	AHNAK	-	NULL	ENSG00000124942		0.463	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	44	0	G	NM_024060		62284238	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.006	T	T	62284238	G	T	62284238	4	4	32	1	0	0	0	0	0	1	0	0	414	1294	45	3	141	3	AHNAK	11	62284238	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	178674	62284238	72722278	124	7703											
FAM168A	23201	genome.wustl.edu	37	chr11	73130983	73130983	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccactgggaggtggaaGgtgccttcagtgccacagga	8	8	16	9	0	1	0	1	0	0	0	2	3	2	3	3	5	2	0	3	5	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:73130983G>T	ENST00000064778.4	-	5	524	c.240C>A	c.(238-240)acC>acA	p.T80T	FAM168A_ENST00000356467.4_Silent_p.T71T|FAM168A_ENST00000450446.2_Silent_p.T71T			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	80										endometrium(3)|kidney(1)|lung(1)	5						GGAGGTGGAAGGTGCCTTCAG	0.507																																																	0													99	104	102					11																	73130983		1967	4135	6102	SO:0001819	synonymous_variant	0			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"tongue cancer chemotherapy resistance-associated protein 1"		"KIAA0280"	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.240C>A	11.37:g.73130983G>T			A2ICY2|A2ID81|Q86UG2	Silent	SNP	NULL	p.T80	ENST00000064778.4	37	c.240		11																																																																																			FAM168A	-	NULL	ENSG00000054965		0.507	FAM168A-003	KNOWN	basic	protein_coding	FAM168A	HGNC	protein_coding	OTTHUMT00000397424.1		0	61	0	G	NM_015159		73130983	-1			no_errors	ENST00000064778	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	T	T	73130983	G	T	73130983	2	4	32	1	0	0	0	0	0	0	0	1	5504	987	35	3		3	FAM168A	11	73130983	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	10846745	73130983	61875533	125	7704											
C2CD3	26005	genome.wustl.edu	37	chr11	73785305	73785305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggagagcatacctttcaaGctcaagtgcattgctctttc	10	12	9	10	0	3	1	2	0	1	1	4	3	3	1	1	1	5	4	1	1	3	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:73785305G>T	ENST00000334126.7	-	24	5170	c.4944C>A	c.(4942-4944)agC>agA	p.S1648R	C2CD3_ENST00000313663.7_Missense_Mutation_p.S1648R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1648	C2 2.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TACCTTTCAAGCTCAAGTGCA	0.498																																																	0													90	74	80					11																	73785305		2200	4293	6493	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4944C>A	11.37:g.73785305G>T	ENSP00000334379:p.Ser1648Arg		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.S1648R	ENST00000334126.7	37	c.4944		11	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447561	0.63178	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000414160	T;T;T	0.40756	1.02;1.02;1.02	5.68	-0.0734	0.13735	.	0.045299	0.85682	D	0.000000	T	0.52948	0.1766	M	0.62723	1.935	0.32483	N	0.541216	D	0.76494	0.999	D	0.79784	0.993	T	0.59134	-0.7511	10	0.72032	D	0.01	-10.777	6.2654	0.20924	0.3637:0.0:0.5131:0.1232	.	1648	Q4AC94-1	.	R	1648;1648;1629;456	ENSP00000334379:S1648R;ENSP00000323339:S1648R;ENSP00000388750:S456R	ENSP00000323339:S1648R	S	-	3	2	C2CD3	73462953	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	0.791000	0.26915	0.134000	0.18681	-0.140000	0.14226	AGC	C2CD3	-	superfamily_C2_dom,smart_C2_dom	ENSG00000168014		0.498	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding			0	36	0	G	NM_015531		73785305	-1			no_errors	ENST00000334126	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.997	T	T	73785305	G	T	73785305	3	4	32	1	0	0	0	0	1	0	0	0	2161	962	34	3	979	3	C2CD3	11	73785305	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	654322	73785305	61221211	126	7705											
MMP27	64066	genome.wustl.edu	37	chr11	102562551	102562551	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaataccaaaaataaacaaGcttaaactcttatgatacaa	22	9	2	8	0	1	1	0	1	1	0	1	1	1	1	1	0	5	1	1	0	12	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:102562551G>A	ENST00000260229.4	-	10	1579	c.1488C>T	c.(1486-1488)agC>agT	p.S496S		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	496	Required for retention in the endoplasmic reticulum. {ECO:0000269|PubMed:24548619}.				collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S496S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	AAATAAACAAGCTTAAACTCT	0.284																																																	1	Substitution - coding silent(1)	lung(1)											109	108	108					11																	102562551		2202	4295	6497	SO:0001819	synonymous_variant	0			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"matrix metalloprotease 27"		"matrix metalloproteinase 27"			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1488C>T	11.37:g.102562551G>A			Q6UWK6	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.S496	ENST00000260229.4	37	c.1488	CCDS8319.1	11																																																																																			MMP27	-	NULL	ENSG00000137675		0.284	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	HGNC	protein_coding	OTTHUMT00000398128.1	-	0	59	0	G	NM_022122		102562551	-1	tier1	-	no_errors	ENST00000260229	ensembl	human	known	74_37	silent	32.84	45	22	SNP	0.127	A	A	102562551	G	A	102562551	2	1	32	1	0	0	0	0	0	0	0	1	9702	962	34	3		3	MMP27	11	102562551	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	28777246	102562551	32443965	127	7706											
MLL	4297	genome.wustl.edu	37	chr11	118343155	118343155	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcattaagacccctcggcgGtttatagaggatgaggatta	12	11	11	7	2	1	3	1	1	0	2	2	5	1	5	2	4	0	1	2	4	4	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:118343155G>T	ENST00000389506.5	+	3	1281	c.1281G>T	c.(1279-1281)cgG>cgT	p.R427R	KMT2A_ENST00000354520.4_Silent_p.R427R|KMT2A_ENST00000534358.1_Silent_p.R427R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	427					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R427R(1)									CCCCTCGGCGGTTTATAGAGG	0.458																																																	1	Substitution - coding silent(1)	lung(1)											99	109	106					11																	118343155		2200	4296	6496	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1281G>T	11.37:g.118343155G>T			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R427	ENST00000389506.5	37	c.1281	CCDS31686.1	11																																																																																			KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.458	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2		0	29	0	G	NM_005933		118343155	1			no_errors	ENST00000389506	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.974	T	T	118343155	G	T	118343155	2	4	32	1	0	0	0	0	0	0	0	1	9658	1248	44	3		3	MLL	11	118343155	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	15780604	118343155	16663361	128	7707											
OR8B3	390271	genome.wustl.edu	37	chr11	124266927	124266927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaacattcagagatgacAaaaaagagaaagaaaaacag	24	5	8	4	0	1	4	1	1	0	3	1	6	1	4	0	0	2	1	0	0	7	2	rs142812088		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:124266927A>G	ENST00000354597.3	-	1	337	c.321T>C	c.(319-321)ttT>ttC	p.F107F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACAAAAAAGAGAA	0.388																																																	0													78	76	77					11																	124266927		2201	4299	6500	SO:0001819	synonymous_variant	0			AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"GPCR / Class A : Olfactory receptors"	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.321T>C	11.37:g.124266927A>G			Q6IFQ8|Q8NGH1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F107	ENST00000354597.3	37	c.321	CCDS31709.1	11																																																																																			OR8B3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196661		0.388	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B3	HGNC	protein_coding	OTTHUMT00000387291.1		0	26	0	A	NM_001005467		124266927	-1			no_errors	ENST00000354597	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.691	G	G	124266927	A	G	124266927	2	3	32	1	0	0	0	0	0	0	0	1	11267	127	5	4		4	OR8B3	11	124266927	Silent	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	5923772	124266927	10739589	129	7708											
CHEK1	1111	genome.wustl.edu	37	chr11	125503112	125503112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttcggtataataatcGtgagcgtttgttgaacaaga	13	14	10	4	3	0	3	0	2	0	1	2	3	0	3	0	1	2	4	0	1	6	7			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr11:125503112G>T	ENST00000534070.1	+	6	734	c.479G>T	c.(478-480)cGt>cTt	p.R160L	CHEK1_ENST00000278916.3_Missense_Mutation_p.R160L|CHEK1_ENST00000427383.2_Missense_Mutation_p.R176L|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160L|CHEK1_ENST00000438015.1_Missense_Mutation_p.R160L|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160L|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160L	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.R160H(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TATAATAATCGTGAGCGTTTG	0.363								Other conserved DNA damage response genes																																									1	Substitution - Missense(1)	central_nervous_system(1)											108	107	108					11																	125503112		2201	4299	6500	SO:0001583	missense	0			AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"CHK1 (checkpoint, S.pombe) homolog", "CHK1 checkpoint homolog (S. pombe)"			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.479G>T	11.37:g.125503112G>T	ENSP00000435371:p.Arg160Leu		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R160L	ENST00000534070.1	37	c.479	CCDS8459.1	11	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860500	0.71834	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.73	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064053	0.64402	D	0.000008	T	0.48978	0.1530	L	0.28014	0.82	0.58432	D	0.999994	B;B;B;B	0.31931	0.185;0.144;0.347;0.347	B;B;B;B	0.34093	0.11;0.086;0.175;0.175	T	0.50110	-0.8866	10	0.48119	T	0.1	-9.9688	10.5261	0.44950	0.1491:0.0:0.8509:0.0	.	160;176;160;160	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	L	160;176;160;160;160;160;160;160;81;160	ENSP00000388648:R160L;ENSP00000391090:R176L;ENSP00000412504:R160L;ENSP00000442317:R160L;ENSP00000431525:R160L;ENSP00000431815:R160L;ENSP00000435371:R160L;ENSP00000432890:R160L;ENSP00000434646:R81L;ENSP00000278916:R160L	ENSP00000278916:R160L	R	+	2	0	CHEK1	125008322	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	6.485000	0.73625	1.432000	0.47375	0.585000	0.79938	CGT	CHEK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000149554		0.363	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CHEK1	HGNC	protein_coding	OTTHUMT00000386714.1		0	55	0	G	NM_001274		125503112	1			no_errors	ENST00000438015	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.998	T	T	125503112	G	T	125503112	3	4	32	1	0	0	0	0	1	0	0	0	3341	1145	40	2	497	2	CHEK1	11	125503112	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1236185	125503112	9503404	130	7709											
WNK1	65125	genome.wustl.edu	37	chr12	994860	994860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctttgcttcccaaccaGccccatactcattgtcctga	8	11	5	17	0	1	1	1	1	0	0	3	1	3	1	6	0	5	2	6	0	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:994860G>T	ENST00000315939.6	+	19	5533	c.4890G>T	c.(4888-4890)caG>caT	p.Q1630H	WNK1_ENST00000340908.4_Missense_Mutation_p.Q1223H|WNK1_ENST00000537687.1_Missense_Mutation_p.Q1890H|WNK1_ENST00000535572.1_Missense_Mutation_p.Q1383H|WNK1_ENST00000530271.2_Missense_Mutation_p.Q2128H	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1630					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCCCAACCAGCCCCATACTC	0.468																																					Colon(19;451 567 6672 12618 28860)												0													99	97	98					12																	994860		2203	4300	6503	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4890G>T	12.37:g.994860G>T	ENSP00000313059:p.Gln1630His		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q2128H	ENST00000315939.6	37	c.6384	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	13.88	2.367867	0.42003	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.78126	-1.12;-1.13;-1.05;-1.15;0.34	5.67	4.78	0.61160	.	0.000000	0.64402	D	0.000006	D	0.84808	0.5554	M	0.63843	1.955	0.43242	D	0.995159	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74348	0.983;0.983;0.962	D	0.85767	0.1353	10	0.66056	D	0.02	-7.4676	11.3696	0.49692	0.1902:0.0:0.8098:0.0	.	1383;1383;1630	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	H	1383;1630;1890;803;2128;1223	ENSP00000441972:Q1383H;ENSP00000313059:Q1630H;ENSP00000444465:Q1890H;ENSP00000433548:Q2128H;ENSP00000341292:Q1223H	ENSP00000252477:Q803H	Q	+	3	2	WNK1	865121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.064000	0.30579	1.537000	0.49254	0.655000	0.94253	CAG	WNK1	-	NULL	ENSG00000060237		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1		0	43	0	G	NM_018979		994860	1			no_errors	ENST00000530271	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	994860	G	T	994860	3	4	32	1	0	0	0	0	1	0	0	0	17426	962	34	3	6466	3	WNK1	12	994860	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		994860	132857035	131	7710											
TAS2R8	50836	genome.wustl.edu	37	chr12	10959369	10959369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtataaacatctgggttcaGtactattacaatgccattta	13	15	6	7	0	2	0	1	0	1	0	2	0	2	0	1	1	4	3	1	1	8	8			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:10959369G>T	ENST00000240615.2	-	1	523	c.211C>A	c.(211-213)Ctg>Atg	p.L71M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	71					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTGGGTTCAGTACTATTACA	0.333																																																	0													111	107	109					12																	10959369		2203	4300	6503	SO:0001583	missense	0			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.211C>A	12.37:g.10959369G>T	ENSP00000240615:p.Leu71Met		Q4KN29|Q645Y2	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L71M	ENST00000240615.2	37	c.211	CCDS8632.1	12	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232046	0.39399	.	.	ENSG00000121314	ENST00000240615	T	0.44881	0.91	4.79	-8.05	0.01106	GPCR, rhodopsin-like superfamily (1);	0.513188	0.14712	U	0.302909	T	0.53867	0.1823	M	0.80422	2.495	0.09310	N	1	P	0.37955	0.612	P	0.57846	0.828	T	0.59359	-0.7469	10	0.66056	D	0.02	.	7.4351	0.27150	0.5757:0.219:0.2053:0.0	.	71	Q9NYW2	TA2R8_HUMAN	M	71	ENSP00000240615:L71M	ENSP00000240615:L71M	L	-	1	2	TAS2R8	10850636	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.708000	0.05035	-1.570000	0.01665	-0.971000	0.02607	CTG	TAS2R8	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121314		0.333	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R8	HGNC	protein_coding	OTTHUMT00000399932.1		0	28	0	G			10959369	-1			no_errors	ENST00000240615	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.000	T	T	10959369	G	T	10959369	3	4	32	1	0	0	0	0	1	0	0	0	15634	1020	36	3	721	3	TAS2R8	12	10959369	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	9964509	10959369	122892526	132	7711											
PRB3	5544	genome.wustl.edu	37	chr12	11421033	11421033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctttcctggaggaggtggGgtacgttggggctggtttcc	3	12	19	7	1	0	0	0	0	0	0	2	2	2	2	2	9	1	5	2	9	1	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:11421033G>A	ENST00000279573.7	-	3	285	c.150C>T	c.(148-150)acC>acT	p.T50T	PRB3_ENST00000440870.3_5'UTR|PRB3_ENST00000538488.1_Silent_p.T50T|PRB3_ENST00000381842.3_Silent_p.T50T			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	50	Pro-rich.			PQRTPPP -> SQGPPPR (in Ref. 1; CAA30728). {ECO:0000305}.	defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GAGGAGGTGGGGTACGTTGGG	0.587																																																	0													154	158	156					12																	11421033		2196	4297	6493	SO:0001819	synonymous_variant	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.150C>T	12.37:g.11421033G>A			Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Silent	SNP	NULL	p.T50	ENST00000279573.7	37	c.150		12																																																																																			PRB3	-	NULL	ENSG00000197870		0.587	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	-	0	77	0	G	NM_006249		11421033	-1	tier1	-	no_errors	ENST00000381842	ensembl	human	known	74_37	silent	33.90	78	40	SNP	0.005	A	A	11421033	G	A	11421033	2	1	32	1	0	0	0	0	0	0	0	1	12486	1219	43	3		3	PRB3	12	11421033	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	461664	11421033	122430862	133	7712											
PDE3A	5139	genome.wustl.edu	37	chr12	20801778	20801778	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgaagcaattttggccActgacctgaagaaacacttt	13	12	7	9	0	1	4	1	3	0	1	1	4	1	4	2	1	2	1	2	1	4	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:20801778A>G	ENST00000359062.3	+	13	2762	c.2722A>G	c.(2722-2724)Act>Gct	p.T908A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	908	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AATTTTGGCCACTGACCTGAA	0.353																																																	0													107	101	103					12																	20801778		2203	4300	6503	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2722A>G	12.37:g.20801778A>G	ENSP00000351957:p.Thr908Ala		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.T908A	ENST00000359062.3	37	c.2722	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514568	0.85389	.	.	ENSG00000172572	ENST00000359062	D	0.93076	-3.16	5.33	5.33	0.75918	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.098581	0.64402	D	0.000001	D	0.98280	0.9430	H	0.99074	4.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99785	1.1029	10	0.87932	D	0	.	15.5913	0.76530	1.0:0.0:0.0:0.0	.	908	Q14432	PDE3A_HUMAN	A	908	ENSP00000351957:T908A	ENSP00000351957:T908A	T	+	1	0	PDE3A	20693045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.779000	0.91792	2.144000	0.66660	0.455000	0.32223	ACT	PDE3A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000172572		0.353	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	-	0	68	0	A			20801778	1	tier1	-	no_errors	ENST00000359062	ensembl	human	known	74_37	missense	30.23	60	26	SNP	1.000	G	G	20801778	A	G	20801778	3	3	32	1	0	0	0	0	1	0	0	0	11676	159	6	4	2772	4	PDE3A	12	20801778	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	9380745	20801778	113050117	134	7713											
KIF21A	55605	genome.wustl.edu	37	chr12	39703470	39703471	+	Frame_Shift_Ins	INS	-	-	A																															acagtgaagaccaaactggtINSataattacagtattttacag																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:39703470_39703471insA	ENST00000361418.5	-	33	4209_4210	c.4194_4195insT	c.(4192-4197)tataccfs	p.T1399fs	KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.T1346fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.T1362fs|KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000395670.3_Frame_Shift_Ins_p.T1400fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.T1386fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1399					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ACCAAACTGGTATAATTACAGT	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4195dupT	12.37:g.39703471_39703471dupA	ENSP00000354878:p.Thr1399fs		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.T1399fs	ENST00000361418.5	37	c.4198_4197	CCDS53776.1	12																																																																																			KIF21A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139116		0.391	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1		0	39	0	-	NM_017641		39703471	-1	tier1		no_errors	ENST00000395670	ensembl	human	known	74_37	frame_shift_ins	51.43	17	18	INS	1.000:0.997	A	A	39703471	-	A	39703470	7	5	32	1	0	1	1	0	0	0	0	0	8315	1638	57	0	853	0	KIF21A	12	39703470	Frame_Shift_Ins	INS	-	TCGA-IG-A97H-01A-11D-A387-09	18901692	39703470	94148425	135	7714											
CALCOCO1	57658	genome.wustl.edu	37	chr12	54118467	54118467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatgggggaaccatcaGttgtactttcaggcacggaa	11	10	13	7	1	2	1	2	1	0	0	2	3	2	3	1	4	2	3	1	4	4	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:54118467G>T	ENST00000550804.1	-	3	281	c.221C>A	c.(220-222)aCt>aAt	p.T74N	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.T74N|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.T74N|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.T74N			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	74	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAACCATCAGTTGTACTTTC	0.502																																																	0													72	63	66					12																	54118467		2203	4300	6503	SO:0001583	missense	0			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.221C>A	12.37:g.54118467G>T	ENSP00000449960:p.Thr74Asn		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.T74N	ENST00000550804.1	37	c.221	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682145	0.29872	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000551900;ENST00000546619;ENST00000547949;ENST00000553154;ENST00000549784;ENST00000549173;ENST00000548177;ENST00000552623;ENST00000549349;ENST00000549688;ENST00000547885;ENST00000548431	T;T;T;T;T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	5.73	4.83	0.62350	.	0.652364	0.13629	N	0.373823	T	0.07548	0.0190	N	0.14661	0.345	0.27062	N	0.963533	B;B;B;B;B	0.30937	0.301;0.007;0.087;0.02;0.106	B;B;B;B;B	0.36418	0.224;0.023;0.09;0.014;0.147	T	0.31081	-0.9956	10	0.20519	T	0.43	-0.0497	9.1537	0.36978	0.0785:0.1493:0.7722:0.0	.	74;74;74;74;74	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;Q9P1Z2	.;.;.;.;CACO1_HUMAN	N	74	ENSP00000397189:T74N;ENSP00000262059:T74N;ENSP00000447647:T74N;ENSP00000449960:T74N;ENSP00000450083:T74N;ENSP00000448621:T74N;ENSP00000447117:T74N;ENSP00000449058:T74N;ENSP00000446820:T74N;ENSP00000448026:T74N;ENSP00000450012:T74N;ENSP00000449796:T74N	ENSP00000262059:T74N	T	-	2	0	CALCOCO1	52404734	0.043000	0.20138	0.727000	0.30756	0.995000	0.86356	1.906000	0.39887	2.882000	0.98803	0.655000	0.94253	ACT	CALCOCO1	-	pfam_CoCoA	ENSG00000012822		0.502	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	-	0	78	0	G	NM_020898		54118467	-1	tier1	-	no_errors	ENST00000550804	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.781	T	T	54118467	G	T	54118467	3	4	32	1	0	0	0	0	1	0	0	0	2584	1029	36	3	1906	3	CALCOCO1	12	54118467	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	14414997	54118467	79733428	136	7715											
ZC3H10	84872	genome.wustl.edu	37	chr12	56515545	56515545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggcccctgtggctgtatCgatggcccaacccttggcag	5	10	13	13	1	0	0	0	0	0	0	1	1	0	0	4	4	1	3	4	4	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:56515545C>T	ENST00000257940.2	+	3	1475	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	400							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GTGGCTGTATCGATGGCCCAA	0.592																																																	0													129	98	109					12																	56515545		2203	4300	6503	SO:0001583	missense	0			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"Zinc fingers, CCCH-type domain containing"	25893	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 10"	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1199C>T	12.37:g.56515545C>T	ENSP00000257940:p.Ser400Leu			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.S400L	ENST00000257940.2	37	c.1199	CCDS8903.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200353	0.79015	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	T	0.64338	0.2589	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.67360	-0.5690	9	0.66056	D	0.02	-5.1176	19.059	0.93080	0.0:1.0:0.0:0.0	.	400	Q96K80	ZC3HA_HUMAN	L	400	.	ENSP00000257940:S400L	S	+	2	0	ZC3H10	54801812	1.000000	0.71417	0.942000	0.38095	0.903000	0.53119	7.391000	0.79828	2.882000	0.98803	0.655000	0.94253	TCG	ZC3H10	-	NULL	ENSG00000135482		0.592	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	-	0	18	0	C	NM_032786		56515545	1	tier1	-	no_errors	ENST00000257940	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	T	T	56515545	C	T	56515545	3	4	32	1	0	0	0	0	1	0	0	0	17607	893	31	1	1201	1	ZC3H10	12	56515545	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	2397078	56515545	77336350	137	7716											
DCTN2	10540	genome.wustl.edu	37	chr12	57927734	57927734	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacactgtatccacacttActttggcagcttgagagaac	12	10	7	12	0	0	2	0	1	0	1	1	3	1	2	2	1	4	3	2	1	4	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:57927734A>T	ENST00000548249.1	-	7	937		c.e7+1		DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Splice_Site|DCTN2_ENST00000537439.1_Splice_Site|DCTN2_ENST00000434715.3_Splice_Site	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						ATCCACACTTACTTTGGCAGC	0.522																																																	0													117	124	122					12																	57927734		1937	4131	6068	SO:0001630	splice_region_variant	0			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.669+1T>A	12.37:g.57927734A>T			B2RBK5|Q86YN2|Q9BW17	Splice_Site	SNP	-	e9+2	ENST00000548249.1	37	c.684+2	CCDS58245.1	12	.	.	.	.	.	.	.	.	.	.	A	15.69	2.907199	0.52333	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758;ENST00000550954	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.088	0.64971	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCTN2	56214001	1.000000	0.71417	0.996000	0.52242	0.596000	0.36781	6.805000	0.75191	2.235000	0.73313	0.533000	0.62120	.	DCTN2	-	-	ENSG00000175203		0.522	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN2	HGNC	protein_coding	OTTHUMT00000407393.2	-	0	77	0	A	NM_006400	Intron	57927734	-1	tier1	-	no_errors	ENST00000434715	ensembl	human	known	74_37	splice_site	27.03	54	20	SNP	0.999	T	T	57927734	A	T	57927734	5	4	32	1	0	0	0	0	0	0	1	0	4316	405	14	5	566	5	DCTN2	12	57927734	Splice_Site	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	1412189	57927734	75924161	138	7717											
PTPRR	5801	genome.wustl.edu	37	chr12	71148007	71148007	+	Frame_Shift_Del	DEL	A	A	-																															ataataacaaagatgctgagAaaaatgacaacagcataaaa																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:71148007delA	ENST00000283228.2	-	5	1154	c.702delT	c.(700-702)tttfs	p.F234fs	PTPRR_ENST00000549308.1_5'UTR|PTPRR_ENST00000440835.2_5'UTR|PTPRR_ENST00000378778.1_Frame_Shift_Del_p.F28fs|PTPRR_ENST00000342084.4_Frame_Shift_Del_p.F122fs	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	234					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGATGCTGAGAAAAATGACAA	0.358																																																	0													127	122	124					12																	71148007		2203	4299	6502	SO:0001589	frameshift_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.702delT	12.37:g.71148007delA	ENSP00000283228:p.Phe234fs		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Frame_Shift_Del	DEL	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L235fs	ENST00000283228.2	37	c.702	CCDS8998.1	12																																																																																			PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.358	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1		0	26	0	A	NM_002849		71148007	-1	tier1		no_errors	ENST00000283228	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.995	-	-	71148007	A	-	71148007	7	5	32	1	0	1	0	1	0	0	0	0	12855	243	9	0	1311	0	PTPRR	12	71148007	Frame_Shift_Del	DEL	A	TCGA-IG-A97H-01A-11D-A387-09	13220273	71148007	62703888	139	7718											
ZDHHC17	23390	genome.wustl.edu	37	chr12	77239524	77239524	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccaaacattgtggtgtGtgcaaccgctgtatagcaaa	12	10	11	8	1	0	0	0	0	0	0	1	0	1	0	2	2	4	4	2	2	5	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:77239524G>T	ENST00000426126.2	+	13	2014	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	ZDHHC17_ENST00000334822.5_Silent_p.V455V|ZDHHC17_ENST00000550789.1_3'UTR	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	455					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ATTGTGGTGTGTGCAACCGCT	0.363																																																	0													194	193	193					12																	77239524		1876	4100	5976	SO:0001819	synonymous_variant	0			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1365G>T	12.37:g.77239524G>T			B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt	p.V455	ENST00000426126.2	37	c.1365	CCDS44946.1	12																																																																																			ZDHHC17	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000186908		0.363	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC17	HGNC	protein_coding	OTTHUMT00000406555.1	-	0	66	0	G	NM_015336		77239524	1	tier1	-	no_errors	ENST00000334822	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.965	T	T	77239524	G	T	77239524	2	4	32	1	0	0	0	0	0	0	0	1	17655	1364	48	3		3	ZDHHC17	12	77239524	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	6091517	77239524	56612371	140	7719											
TXNRD1	7296	genome.wustl.edu	37	chr12	104715025	104715025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggatttgaccaggacatGgccaacaaaattggtgaaca	16	7	11	7	0	0	3	0	2	0	1	0	5	0	5	2	4	2	0	2	4	4	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:104715025G>T	ENST00000529546.1	+	7	807	c.582G>T	c.(580-582)atG>atT	p.M194I	TXNRD1_ENST00000354940.6_Missense_Mutation_p.M232I|TXNRD1_ENST00000378070.4_Missense_Mutation_p.M331I|TXNRD1_ENST00000388854.3_Missense_Mutation_p.M284I|TXNRD1_ENST00000542918.1_Missense_Mutation_p.M282I|TXNRD1_ENST00000540716.1_Missense_Mutation_p.M194I|TXNRD1_ENST00000503506.2_Missense_Mutation_p.M232I|TXNRD1_ENST00000429002.2_Missense_Mutation_p.M382I|TXNRD1_ENST00000526691.1_Missense_Mutation_p.M284I|TXNRD1_ENST00000397736.2_Missense_Mutation_p.M276I|TXNRD1_ENST00000526390.1_Missense_Mutation_p.M276I|TXNRD1_ENST00000427956.1_Missense_Mutation_p.M347I|TXNRD1_ENST00000525566.1_Missense_Mutation_p.M382I|TXNRD1_ENST00000526950.1_Missense_Mutation_p.M301I|TXNRD1_ENST00000524698.1_Missense_Mutation_p.M232I			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	382				V -> G (in Ref. 6; AAF15900). {ECO:0000305}.	cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	ACCAGGACATGGCCAACAAAA	0.418																																					Ovarian(139;555 1836 9186 9946 10884)												0													222	204	210					12																	104715025		1933	4145	6078	SO:0001583	missense	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.582G>T	12.37:g.104715025G>T	ENSP00000434919:p.Met194Ile		B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.M382I	ENST00000529546.1	37	c.1146	CCDS58274.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012858	0.75161	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000503506;ENST00000526691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000529546;ENST00000540716;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.76	5.76	0.90799	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	N	0.20766	0.605	0.80722	D	1	B;B;B;B;B;B;B	0.33964	0.029;0.011;0.434;0.002;0.001;0.068;0.011	B;B;B;B;B;B;B	0.37780	0.105;0.053;0.258;0.031;0.009;0.089;0.028	T	0.40961	-0.9535	10	0.66056	D	0.02	-36.2329	20.0386	0.97572	0.0:0.0:1.0:0.0	.	282;276;382;284;232;382;347	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	I	382;382;232;284;284;232;276;194;194;232;282;331;276;347;301	ENSP00000434516:M382I;ENSP00000412045:M382I;ENSP00000421934:M232I;ENSP00000435929:M284I;ENSP00000373506:M284I;ENSP00000347020:M232I;ENSP00000435123:M276I;ENSP00000434919:M194I;ENSP00000442709:M194I;ENSP00000433425:M232I;ENSP00000440978:M282I;ENSP00000367310:M331I;ENSP00000380844:M276I;ENSP00000393328:M347I;ENSP00000432812:M301I	ENSP00000347020:M232I	M	+	3	0	TXNRD1	103239155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.739000	0.74827	2.738000	0.93877	0.638000	0.83543	ATG	TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000198431		0.418	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	-	0	67	0	G	NM_003330		104715025	1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	104715025	G	T	104715025	3	4	32	1	0	0	0	0	1	0	0	0	16856	1348	47	3	1198	3	TXNRD1	12	104715025	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	27475501	104715025	29136870	141	7720											
ORAI1	84876	genome.wustl.edu	37	chr12	122079313	122079313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcgcagcagccaacGtcagcaccagcggcatcacc	10	3	11	17	3	2	0	2	0	0	0	2	0	2	0	4	2	5	4	4	2	1	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr12:122079313G>T	ENST00000330079.7	+	2	869	c.676G>T	c.(676-678)Gtc>Ttc	p.V226F		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	224					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.V226I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		AGCAGCCAACGTCAGCACCAG	0.652																																																	1	Substitution - Missense(1)	large_intestine(1)											41	54	50					12																	122079313		2193	4291	6484	SO:0001583	missense	0			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"ORAI calcium release-activated calcium modulators"	25896	protein-coding gene	gene with protein product	"calcium release-activated calcium modulator 1"	610277	"transmembrane protein 142A"	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.676G>T	12.37:g.122079313G>T	ENSP00000328216:p.Val226Phe		Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	pfam_CRAC_channel	p.V226F	ENST00000330079.7	37	c.676	CCDS41851.1	12	.	.	.	.	.	.	.	.	.	.	G	0.581	-0.837115	0.02692	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.44083	1.52;0.93	5.19	3.02	0.34903	.	1.325880	0.05029	N	0.474295	T	0.28764	0.0713	N	0.14661	0.345	0.09310	N	1	B	0.22146	0.065	B	0.32465	0.146	T	0.34750	-0.9816	10	0.38643	T	0.18	0.1102	2.3406	0.04259	0.2031:0.0:0.501:0.2958	.	224	Q96D31	CRCM1_HUMAN	F	226;121	ENSP00000328216:V226F;ENSP00000441198:V121F	ENSP00000328216:V226F	V	+	1	0	ORAI1	120563696	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.086000	0.14935	1.134000	0.42165	0.591000	0.81541	GTC	ORAI1	-	pfam_CRAC_channel	ENSG00000182500		0.652	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI1	HGNC	protein_coding	OTTHUMT00000402151.1	-	0	59	0	G	NM_032790		122079313	1	tier1	-	no_errors	ENST00000330079	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.001	T	T	122079313	G	T	122079313	3	4	32	1	0	0	0	0	1	0	0	0	11296	1145	40	2	682	2	ORAI1	12	122079313	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	17364288	122079313	11772582	142	7721											
FLT3	2322	genome.wustl.edu	37	chr13	28623675	28623675	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctcaaagtagttgccCtaggttttaataaaacagag	14	12	7	8	0	2	1	2	0	1	1	3	1	2	1	1	1	2	3	1	1	6	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr13:28623675C>T	ENST00000241453.7	-	8	964		c.e8-1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTAGTTGCCCTAGGTTTTAA	0.353			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													90	87	88					13																	28623675		2203	4300	6503	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.883-1G>A	13.37:g.28623675C>T			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	-	e8-1	ENST00000241453.7	37	c.883-1	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106391	0.77096	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5174	0.87778	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27521675	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.533000	0.60615	2.885000	0.99019	0.655000	0.94253	.	FLT3	-	-	ENSG00000122025		0.353	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0	43	0	C		Intron	28623675	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	splice_site	68.42	12	26	SNP	1.000	T	T	28623675	C	T	28623675	5	4	32	1	0	0	0	0	0	0	1	0	5964	695	24	3	2167	3	FLT3	13	28623675	Splice_Site	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		28623675	86546203	143	7722											
MLNR	2862	genome.wustl.edu	37	chr13	49794627	49794627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcctgttcgtcgtcGgggtgagcggcaacgtggtg	3	10	18	10	5	0	1	0	1	0	0	3	1	0	1	2	4	3	2	2	4	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr13:49794627G>T	ENST00000218721.1	+	1	154	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	MLNR_ENST00000398307.1_Missense_Mutation_p.G52W	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	52					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GTTCGTCGTCGGGGTGAGCGG	0.697																																																	0													80	52	61					13																	49794627		2202	4297	6499	SO:0001583	missense	0			AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"GPCR / Class A : Motilin receptors"	4495	protein-coding gene	gene with protein product		602885	"G protein-coupled receptor 38"	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.154G>T	13.37:g.49794627G>T	ENSP00000218721:p.Gly52Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GHS-R	p.G52W	ENST00000218721.1	37	c.154	CCDS9414.1	13	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907355	0.72868	.	.	ENSG00000102539	ENST00000218721;ENST00000398307	T;T	0.53857	0.6;0.6	4.67	2.87	0.33458	.	0.000000	0.85682	U	0.000000	T	0.56093	0.1962	L	0.27053	0.805	0.34425	D	0.697851	D	0.89917	1.0	D	0.97110	1.0	T	0.65331	-0.6194	10	0.87932	D	0	-7.2662	8.7793	0.34781	0.0848:0.1518:0.7633:0.0	.	52	O43193	MTLR_HUMAN	W	52	ENSP00000218721:G52W;ENSP00000381352:G52W	ENSP00000218721:G52W	G	+	1	0	MLNR	48692628	1.000000	0.71417	0.674000	0.29902	0.808000	0.45660	6.333000	0.72939	0.362000	0.24319	0.563000	0.77884	GGG	MLNR	-	prints_GPCR_Rhodpsn	ENSG00000102539		0.697	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLNR	HGNC	protein_coding	OTTHUMT00000044897.1		0	16	0	G	NM_001507		49794627	1			no_errors	ENST00000218721	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	49794627	G	T	49794627	3	4	32	1	0	0	0	0	1	0	0	0	9670	1116	39	2	156	2	MLNR	13	49794627	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	21170952	49794627	65375251	144	7723											
RNASEH2B	79621	genome.wustl.edu	37	chr13	51519601	51519601	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaaaaaccaataatgtGaatgtcagttcccgggtaca	15	10	8	8	1	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	7	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr13:51519601G>T	ENST00000336617.3	+	7	948	c.549G>T	c.(547-549)gtG>gtT	p.V183V	RNASEH2B_ENST00000422660.1_Silent_p.V183V|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	183			V -> M (in AGS2). {ECO:0000269|PubMed:17846997}.		in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		CCAATAATGTGAATGTCAGTT	0.378																																																	0													116	116	116					13																	51519601		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"deleted in lymphocytic leukemia 8", "Aicardi-Goutieres syndrome 2"	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.549G>T	13.37:g.51519601G>T			G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Silent	SNP	pfam_RNase_H2_suB	p.V183	ENST00000336617.3	37	c.549	CCDS9425.1	13																																																																																			RNASEH2B	-	pfam_RNase_H2_suB	ENSG00000136104		0.378	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2B	HGNC	protein_coding	OTTHUMT00000045006.3		0	37	0	G	NM_024570		51519601	1			no_errors	ENST00000336617	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.021	T	T	51519601	G	T	51519601	2	4	32	1	0	0	0	0	0	0	0	1	13458	1277	45	3		3	RNASEH2B	13	51519601	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1724974	51519601	63650277	145	7724											
DOCK9	23348	genome.wustl.edu	37	chr13	99534153	99534153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcccttaccgagtcaCgttaaccgcgacttcttcct	7	11	5	18	4	2	0	1	0	1	0	4	2	4	0	6	0	2	1	6	0	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr13:99534153C>A	ENST00000376460.1	-	24	2748	c.2668G>T	c.(2668-2670)Gtg>Ttg	p.V890L	DOCK9_ENST00000442173.1_Missense_Mutation_p.V890L|DOCK9_ENST00000448493.2_Missense_Mutation_p.V902L|DOCK9_ENST00000339416.2_Missense_Mutation_p.V891L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	891					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TACCGAGTCACGTTAACCGCG	0.532																																																	0													108	107	107					13																	99534153		2147	4258	6405	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.2668G>T	13.37:g.99534153C>A	ENSP00000365643:p.Val890Leu		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V891L	ENST00000376460.1	37	c.2671	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208102	0.79240	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.64260	-0.09;-0.09;1.94;1.95	5.64	5.64	0.86602	.	0.123114	0.56097	D	0.000031	T	0.61874	0.2382	L	0.54323	1.7	0.48452	D	0.999659	B;P;B;B;B	0.37914	0.429;0.611;0.429;0.026;0.411	B;B;B;B;B	0.40329	0.241;0.241;0.326;0.031;0.173	T	0.65615	-0.6125	10	0.66056	D	0.02	.	14.5454	0.68027	0.1463:0.8537:0.0:0.0	.	891;890;890;890;891	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	L	890;891;891;891;890;891;902;890	ENSP00000365643:V890L;ENSP00000341086:V891L;ENSP00000401958:V902L;ENSP00000406883:V890L	ENSP00000341086:V891L	V	-	1	0	DOCK9	98332154	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	4.623000	0.61247	2.653000	0.90120	0.655000	0.94253	GTG	DOCK9	-	superfamily_ARM-type_fold	ENSG00000088387		0.532	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	-	0	24	0	C	NM_015296		99534153	-1	tier1	-	no_errors	ENST00000339416	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.997	A	A	99534153	C	A	99534153	3	1	32	1	0	0	0	0	1	0	0	0	4708	536	19	2	3731	2	DOCK9	13	99534153	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	48014552	99534153	15635725	146	7725											
PRPF39	55015	genome.wustl.edu	37	chr14	45579751	45579751	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatttaattactgtttctaGgtaatattaatgaagccagg	14	15	7	5	0	1	1	0	1	1	0	1	1	1	1	1	2	2	2	1	2	7	8			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr14:45579751G>T	ENST00000355765.6	+	10	1473		c.e10-1		SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ACTGTTTCTAGGTAATATTAA	0.353																																																	0													25	23	24					14																	45579751		2198	4283	6481	SO:0001630	splice_region_variant	0			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1304-1G>T	14.37:g.45579751G>T			Q08AL1|Q08AL2|Q9NUU5	Splice_Site	SNP	-	e9-1	ENST00000355765.6	37	c.1304-1	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349340	0.61183	.	.	ENSG00000185246	ENST00000355765	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4833	0.90819	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRPF39	44649501	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.837000	0.99465	2.457000	0.83068	0.563000	0.77884	.	PRPF39	-	-	ENSG00000185246		0.353	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2	-	0	52	0	G		Intron	45579751	1	tier1	-	no_errors	ENST00000355765	ensembl	human	known	74_37	splice_site	9.30	39	4	SNP	1.000	T	T	45579751	G	T	45579751	5	4	32	1	0	0	0	0	0	0	1	0	12611	1014	35	3	1337	3	PRPF39	14	45579751	Splice_Site	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		45579751	61769789	147	7726											
DAAM1	23002	genome.wustl.edu	37	chr14	59787247	59787247	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaggaagaagaagaaGaaagaagtaaaactatagag	24	4	12	1	0	0	7	0	0	0	7	0	9	0	8	0	1	1	1	0	1	12	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr14:59787247G>T	ENST00000395125.1	+	4	408	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	DAAM1_ENST00000360909.3_Nonsense_Mutation_p.E129*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.E129*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	129	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGAAGAAGAAGAAAGAAGTAA	0.333																																																	0													89	99	96					14																	59787247		2203	4298	6501	SO:0001587	stop_gained	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.385G>T	14.37:g.59787247G>T	ENSP00000378557:p.Glu129*		Q86U34|Q8N1Z8|Q8TB39	Nonsense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.E129*	ENST00000395125.1	37	c.385	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.105609	0.97286	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	.	.	.	X	129	.	ENSP00000247170:E129X	E	+	1	0	DAAM1	58857000	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.278000	0.72614	2.798000	0.96311	0.655000	0.94253	GAA	DAAM1	-	pfam_GTPase-bd,superfamily_ARM-type_fold	ENSG00000100592		0.333	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2		0	39	0	G	NM_014992		59787247	1			no_errors	ENST00000351081	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	1.000	T	T	59787247	G	T	59787247	4	4	32	1	0	0	0	0	0	1	0	0	4224	943	33	3	399	3	DAAM1	14	59787247	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	14207496	59787247	47562293	148	7727											
SYNE2	23224	genome.wustl.edu	37	chr14	64634074	64634074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatgaaccggcaatggattCgggccacggccacggcactg	10	6	13	12	4	0	1	0	1	0	0	1	2	0	2	3	5	1	2	3	5	3	2	rs139218000		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr14:64634074C>T	ENST00000344113.4	+	91	16941	c.16729C>T	c.(16729-16731)Cgg>Tgg	p.R5577W	SYNE2_ENST00000555002.1_Missense_Mutation_p.R2211W|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5577W|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.R1962W|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1962W|SYNE2_ENST00000554584.1_Missense_Mutation_p.R5452W	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5577					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCAATGGATTCGGGCCACGGC	0.478																																																	0								C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	62	60	61		16729,16729	4.9	1	14	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	5577/6886,5577/6908	64634074	2,13004	2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.16729C>T	14.37:g.64634074C>T	ENSP00000341781:p.Arg5577Trp		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R5577W	ENST00000344113.4	37	c.16729	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.090098	0.76756	4.54E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.50813	0.73;4.05;0.74;1.26;4.1;4.05	5.78	4.87	0.63330	.	0.398534	0.21261	N	0.077475	T	0.61540	0.2355	M	0.63428	1.95	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.997;0.999	P;P;P;P	0.59221	0.827;0.809;0.676;0.854	T	0.65010	-0.6272	10	0.66056	D	0.02	.	13.9441	0.64073	0.2763:0.7237:0.0:0.0	.	1962;5452;5577;5577	Q8WXH0-7;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	W	5577;1962;5577;5452;5458;2211;1962	ENSP00000350719:R5577W;ENSP00000349969:R1962W;ENSP00000341781:R5577W;ENSP00000452570:R5452W;ENSP00000450831:R2211W;ENSP00000378249:R1962W	ENSP00000261678:R5458W	R	+	1	2	SYNE2	63703827	0.989000	0.36119	0.968000	0.41197	0.882000	0.50991	2.798000	0.47884	1.517000	0.48917	0.655000	0.94253	CGG	SYNE2	-	NULL	ENSG00000054654		0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0	57	0	C	NM_182914		64634074	1			no_errors	ENST00000358025	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.966	T	T	64634074	C	T	64634074	3	4	32	1	0	0	0	0	1	0	0	0	15493	875	31	1	17087	1	SYNE2	14	64634074	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	4846827	64634074	42715466	149	7728											
PLEKHH1	57475	genome.wustl.edu	37	chr14	68038523	68038523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgagtcctctgggtctgacGatgactgcagctctcaggcg	7	9	13	12	3	3	2	1	2	3	0	5	4	4	2	1	2	2	2	1	2	0	0	rs201561620		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr14:68038523G>A	ENST00000329153.5	+	10	1621	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	497						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGGTCTGACGATGACTGCAG	0.587											OREG0022748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82	83	83					14																	68038523		2046	4203	6249	SO:0001583	missense	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1489G>A	14.37:g.68038523G>A	ENSP00000330278:p.Asp497Asn	1104	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.D497N	ENST00000329153.5	37	c.1489	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872041	0.72180	.	.	ENSG00000054690	ENST00000329153	T	0.12147	2.71	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.83275	0.996;0.639	T	0.01630	-1.1308	10	0.38643	T	0.18	.	16.2597	0.82535	0.0:0.0:1.0:0.0	.	12;497	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	N	497	ENSP00000330278:D497N	ENSP00000330278:D497N	D	+	1	0	PLEKHH1	67108276	1.000000	0.71417	0.827000	0.32855	0.202000	0.24057	8.855000	0.92236	2.486000	0.83907	0.561000	0.74099	GAT	PLEKHH1	-	NULL	ENSG00000054690		0.587	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	-	0	44	0	G	XM_031054		68038523	1	tier1	rs201561620	no_errors	ENST00000329153	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	68038523	G	A	68038523	3	1	32	1	0	0	0	0	1	0	0	0	12115	1058	37	1	1523	1	PLEKHH1	14	68038523	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3404449	68038523	39311017	150	7729											
FLVCR2	55640	genome.wustl.edu	37	chr14	76045398	76045398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagcggaccccagcgtctCggtccatcccagcgtctcgg	6	6	11	18	5	2	0	0	0	2	0	6	1	4	1	5	3	3	0	5	3	1	0	rs548569935	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr14:76045398C>T	ENST00000238667.4	+	1	439	c.83C>T	c.(82-84)tCg>tTg	p.S28L	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	28	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGCGTCTCGGTCCATCCC	0.642																																																	0													90	95	94					14																	76045398		2203	4300	6503	SO:0001583	missense	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.83C>T	14.37:g.76045398C>T	ENSP00000238667:p.Ser28Leu		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.S28L	ENST00000238667.4	37	c.83	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600983	0.28534	.	.	ENSG00000119686	ENST00000238667	T	0.26810	1.71	4.08	3.19	0.36642	.	1.127850	0.06695	N	0.770281	T	0.18593	0.0446	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.07121	-1.0789	10	0.22706	T	0.39	.	8.1372	0.31061	0.0:0.8905:0.0:0.1095	.	28	Q9UPI3	FLVC2_HUMAN	L	28	ENSP00000238667:S28L	ENSP00000238667:S28L	S	+	2	0	AC007182.1	75115151	0.085000	0.21516	0.318000	0.25279	0.050000	0.14768	0.493000	0.22451	1.313000	0.45069	0.650000	0.86243	TCG	FLVCR2	-	superfamily_Trimer_LpxA-like	ENSG00000119686		0.642	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	-	0	72	0	C	NM_017791		76045398	1	tier1	-	no_errors	ENST00000238667	ensembl	human	known	74_37	missense	28.57	70	28	SNP	0.737	T	T	76045398	C	T	76045398	3	4	32	1	0	0	0	0	1	0	0	0	5968	893	31	1	85	1	FLVCR2	14	76045398	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	8006875	76045398	31304142	151	7730											
ASPG	374569	genome.wustl.edu	37	chr14	104570719	104570719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggacccaccaagcccGacctgctgcaggagctgcgg	9	3	14	15	3	0	0	0	0	0	0	0	4	0	3	4	4	6	3	4	4	2	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr14:104570719G>T	ENST00000551177.1	+	8	924	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	ASPG_ENST00000546892.2_Missense_Mutation_p.D278Y|ASPG_ENST00000455920.2_Missense_Mutation_p.D278Y	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	278	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CACCAAGCCCGACCTGCTGCA	0.672																																																	0													34	44	41					14																	104570719		2125	4237	6362	SO:0001583	missense	0				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.832G>T	14.37:g.104570719G>T	ENSP00000450040:p.Asp278Tyr		B9EGQ2|Q8IV80	Missense_Mutation	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI	p.D278Y	ENST00000551177.1	37	c.832	CCDS45170.2	14	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346556	0.61073	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.25085	1.82;1.82;1.82	4.1	4.1	0.47936	.	0.216900	0.45606	D	0.000348	T	0.44746	0.1308	L	0.60845	1.875	0.80722	D	1	P;D;D;D	0.64830	0.779;0.994;0.992;0.992	B;D;P;D	0.65573	0.428;0.917;0.864;0.936	T	0.46665	-0.9175	10	0.87932	D	0	-10.8209	13.8191	0.63309	0.0:0.0:1.0:0.0	.	278;278;278;306	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	Y	278;306;278;278	ENSP00000450040:D278Y;ENSP00000448911:D278Y;ENSP00000389003:D278Y	ENSP00000299234:D306Y	D	+	1	0	ASPG	103640472	0.998000	0.40836	0.300000	0.25030	0.401000	0.30781	3.641000	0.54360	1.823000	0.53134	0.462000	0.41574	GAC	ASPG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI	ENSG00000166183		0.672	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	-	0	87	0	G	NM_001080464		104570719	1	tier1	-	no_errors	ENST00000455920	ensembl	human	known	74_37	missense	43.97	64	51	SNP	0.998	T	T	104570719	G	T	104570719	3	4	32	1	0	0	0	0	1	0	0	0	1053	1058	37	2	862	2	ASPG	14	104570719	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	28525321	104570719	2778821	152	7731											
RYR3	6263	genome.wustl.edu	37	chr15	34115234	34115234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggagaaaaaggatgctgGattctttcaaagcctttctg	14	11	10	6	0	3	1	1	0	2	1	3	4	3	3	1	3	2	1	1	3	4	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:34115234G>T	ENST00000389232.4	+	81	11103	c.11033G>T	c.(11032-11034)gGa>gTa	p.G3678V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3673V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3678					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGATGCTGGATTCTTTCAA	0.433																																																	0													114	109	111					15																	34115234		1844	4107	5951	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11033G>T	15.37:g.34115234G>T	ENSP00000373884:p.Gly3678Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G3678V	ENST00000389232.4	37	c.11033	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710735	0.68730	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.89875	-2.58	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.973;0.988	D	0.94025	0.7296	10	0.62326	D	0.03	.	19.2535	0.93935	0.0:0.0:1.0:0.0	.	3673;3678	Q15413-2;Q15413	.;RYR3_HUMAN	V	3678;3677;3673	ENSP00000373884:G3678V	ENSP00000354735:G3673V	G	+	2	0	RYR3	31902526	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	GGA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	58	0	G			34115234	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	34115234	G	T	34115234	3	4	32	1	0	0	0	0	1	0	0	0	13815	1174	41	3	11355	3	RYR3	15	34115234	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		34115234	68416158	153	7732											
C15orf55	256646	genome.wustl.edu	37	chr15	34646055	34646055	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggcccctggcctctGaggtttgccagcagccaggt	5	9	13	14	0	2	1	0	1	2	0	2	1	2	1	5	4	3	2	5	4	1	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:34646055G>T	ENST00000333756.4	+	4	1128	c.973G>T	c.(973-975)Gag>Tag	p.E325*	NUTM1_ENST00000438749.3_Nonsense_Mutation_p.E343*|NUTM1_ENST00000537011.1_Nonsense_Mutation_p.E353*	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	325						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTGGCCTCTGAGGTTTGCCA	0.537																																																	0													84	82	83					15																	34646055		2201	4298	6499	SO:0001587	stop_gained	0			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.973G>T	15.37:g.34646055G>T	ENSP00000329448:p.Glu325*		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Nonsense_Mutation	SNP	NULL	p.E325*	ENST00000333756.4	37	c.973	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.875845	0.98986	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	.	.	.	5.49	5.49	0.81192	.	0.249580	0.28414	N	0.015430	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.8705	0.70453	0.0:0.0:1.0:0.0	.	.	.	.	X	353;343;325	.	ENSP00000329448:E325X	E	+	1	0	C15orf55	32433347	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	4.888000	0.63164	2.571000	0.86741	0.557000	0.71058	GAG	NUTM1	-	NULL	ENSG00000184507		0.537	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	HGNC	protein_coding	OTTHUMT00000418026.1		0	43	0	G	NM_175741		34646055	1			no_errors	ENST00000333756	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	1.000	T	T	34646055	G	T	34646055	4	4	32	1	0	0	0	0	0	1	0	0	1808	1291	45	3	987	3	C15orf55	15	34646055	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	530821	34646055	67885337	154	7733											
C15orf55	256646	genome.wustl.edu	37	chr15	34649094	34649094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgacccccaaggagaagGcagggtggatcctgatctgt	10	9	13	9	0	1	3	0	2	1	1	2	5	2	4	3	4	0	1	3	4	3	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:34649094G>A	ENST00000333756.4	+	7	2956	c.2801G>A	c.(2800-2802)gGc>gAc	p.G934D	NUTM1_ENST00000438749.3_Missense_Mutation_p.G952D|NUTM1_ENST00000537011.1_Missense_Mutation_p.G962D	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	934						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAAGGAGAAGGCAGGGTGGAT	0.483																																																	0													74	66	69					15																	34649094		2201	4298	6499	SO:0001583	missense	0			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2801G>A	15.37:g.34649094G>A	ENSP00000329448:p.Gly934Asp		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	NULL	p.G934D	ENST00000333756.4	37	c.2801	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791922	0.50102	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.14144	2.54;2.75;2.53	5.09	2.21	0.28008	.	0.519863	0.19332	N	0.116871	T	0.22975	0.0555	M	0.71036	2.16	0.09310	N	1	B;B;B	0.32693	0.262;0.38;0.044	B;P;B	0.47015	0.333;0.534;0.029	T	0.23476	-1.0187	10	0.62326	D	0.03	.	4.4899	0.11808	0.1829:0.0:0.6409:0.1762	.	952;962;934	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	D	962;952;934	ENSP00000444896:G962D;ENSP00000407031:G952D;ENSP00000329448:G934D	ENSP00000329448:G934D	G	+	2	0	C15orf55	32436386	0.912000	0.30974	0.011000	0.14972	0.008000	0.06430	0.794000	0.26958	0.325000	0.23359	0.655000	0.94253	GGC	NUTM1	-	NULL	ENSG00000184507		0.483	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	HGNC	protein_coding	OTTHUMT00000418026.1	-	0	20	0	G	NM_175741		34649094	1	tier1	-	no_errors	ENST00000333756	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.026	A	A	34649094	G	A	34649094	3	1	32	1	0	0	0	0	1	0	0	0	1808	1203	42	3	2827	3	C15orf55	15	34649094	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3039	34649094	67882298	155	7734											
CASC5	57082	genome.wustl.edu	37	chr15	40914458	40914458	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgattgtaatcaggagAtagcaacaagccataatata	17	9	8	7	0	1	2	1	1	0	1	1	3	1	2	1	1	4	3	1	1	7	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:40914458A>G	ENST00000346991.5	+	11	2464	c.2074A>G	c.(2074-2076)Ata>Gta	p.I692V	CASC5_ENST00000399668.2_Missense_Mutation_p.I666V|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	692	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TAATCAGGAGATAGCAACAAG	0.373																																																	0													77	75	76					15																	40914458		1821	4088	5909	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.2074A>G	15.37:g.40914458A>G	ENSP00000335463:p.Ile692Val		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.I692V	ENST00000346991.5	37	c.2074	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	A	0.112	-1.137199	0.01742	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05258	3.47;3.47	3.65	2.52	0.30459	.	0.672814	0.12123	N	0.497504	T	0.05640	0.0148	L	0.44542	1.39	0.09310	N	1	B;B;B	0.16396	0.004;0.007;0.017	B;B;B	0.12156	0.007;0.005;0.005	T	0.46569	-0.9182	10	0.10636	T	0.68	.	7.4409	0.27183	0.8985:0.0:0.1015:0.0	.	666;692;666	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	V	692;666;666	ENSP00000335463:I692V;ENSP00000382576:I666V	ENSP00000260369:I666V	I	+	1	0	CASC5	38701750	0.000000	0.05858	0.017000	0.16124	0.854000	0.48673	0.163000	0.16520	0.490000	0.27771	0.455000	0.32223	ATA	CASC5	-	NULL	ENSG00000137812		0.373	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0	29	0	A	NM_144508		40914458	1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.008	G	G	40914458	A	G	40914458	3	3	32	1	0	0	0	0	1	0	0	0	2670	333	12	4	2112	4	CASC5	15	40914458	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	6265364	40914458	61616934	156	7735											
MGA	23269	genome.wustl.edu	37	chr15	42041627	42041627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtcttattcctctccagtCtggtagttttgccttgttac	5	18	7	11	0	3	0	0	0	3	0	5	0	4	0	3	1	2	3	3	1	3	7			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:42041627C>G	ENST00000570161.1	+	16	5822	c.5822C>G	c.(5821-5823)tCt>tGt	p.S1941C	MGA_ENST00000389936.4_Missense_Mutation_p.S1902C|MGA_ENST00000219905.7_Missense_Mutation_p.S1941C|MGA_ENST00000545763.1_Missense_Mutation_p.S1732C|MGA_ENST00000566586.1_Missense_Mutation_p.S1732C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTCTCCAGTCTGGTAGTTTT	0.448																																																	0													43	41	42					15																	42041627		1894	4117	6011	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5822C>G	15.37:g.42041627C>G	ENSP00000457035:p.Ser1941Cys		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.S1941C	ENST00000570161.1	37	c.5822	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386201	0.61956	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.26957	1.7;1.7;1.7	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000087	T	0.41050	0.1142	N	0.24115	0.695	0.31751	N	0.634622	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.998;0.999;0.993;0.993	T	0.43750	-0.9372	10	0.87932	D	0	.	19.8788	0.96888	0.0:1.0:0.0:0.0	.	557;1732;1941;1902	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	C	1941;1902;1732	ENSP00000219905:S1941C;ENSP00000374586:S1902C;ENSP00000442467:S1732C	ENSP00000219905:S1941C	S	+	2	0	MGA	39828919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.996000	0.57009	2.704000	0.92352	0.563000	0.77884	TCT	MGA	-	NULL	ENSG00000174197		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	32	0	C	NM_001164273.1		42041627	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	G	G	42041627	C	G	42041627	3	3	32	1	0	0	0	0	1	0	0	0	9578	913	32	5	5884	5	MGA	15	42041627	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	1127169	42041627	60489765	157	7736											
TGM7	116179	genome.wustl.edu	37	chr15	43568766	43568766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagctttggtcgggtagaGgtccagttgaatttggaggg	7	12	16	6	1	0	2	0	1	0	1	3	3	2	3	2	5	1	3	2	5	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:43568766G>T	ENST00000452443.2	-	13	2024	c.2020C>A	c.(2020-2022)Ctc>Atc	p.L674I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	674					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTCGGGTAGAGGTCCAGTTGA	0.577																																																	0													156	134	141					15																	43568766		2202	4299	6501	SO:0001583	missense	0			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"Transglutaminases"	30790	protein-coding gene	gene with protein product	"transglutaminase Z"	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.2020C>A	15.37:g.43568766G>T	ENSP00000389466:p.Leu674Ile			Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L674I	ENST00000452443.2	37	c.2020	CCDS32213.1	15	.	.	.	.	.	.	.	.	.	.	G	0.979	-0.697826	0.03279	.	.	ENSG00000159495	ENST00000452443	T	0.66995	-0.24	4.61	2.57	0.30868	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.147023	0.45361	D	0.000368	T	0.61299	0.2336	L	0.32530	0.975	0.28102	N	0.931383	D	0.67145	0.996	D	0.65573	0.936	T	0.54984	-0.8211	10	0.08381	T	0.77	-15.5703	3.7723	0.08646	0.2031:0.0:0.6035:0.1934	.	674	Q96PF1	TGM7_HUMAN	I	674	ENSP00000389466:L674I	ENSP00000389466:L674I	L	-	1	0	TGM7	41356058	0.992000	0.36948	0.995000	0.50966	0.072000	0.16883	1.096000	0.30976	1.067000	0.40740	0.585000	0.79938	CTC	TGM7	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000159495		0.577	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	HGNC	protein_coding	OTTHUMT00000432489.1		0	45	0	G	NM_052955		43568766	-1			no_errors	ENST00000452443	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.886	T	T	43568766	G	T	43568766	3	4	32	1	0	0	0	0	1	0	0	0	15882	1000	35	3	116	3	TGM7	15	43568766	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1527139	43568766	58962626	158	7737											
GATM	2628	genome.wustl.edu	37	chr15	45657033	45657033	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggagtaatgatagtcCatcctgctttcttgaaaaga	12	13	10	6	0	1	3	0	2	1	1	3	5	3	5	2	2	1	2	2	2	4	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:45657033C>T	ENST00000396659.3	-	7	1343	c.1004G>A	c.(1003-1005)tGg>tAg	p.W335*	GATM_ENST00000558336.1_Nonsense_Mutation_p.W335*	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	335					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	AATGATAGTCCATCCTGCTTT	0.338																																																	0													125	122	123					15																	45657033		2198	4298	6496	SO:0001587	stop_gained	0			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.1004G>A	15.37:g.45657033C>T	ENSP00000379895:p.Trp335*		B4DH99|B4DPI3|Q53EQ4	Nonsense_Mutation	SNP	NULL	p.W335*	ENST00000396659.3	37	c.1004	CCDS10122.1	15	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838065	0.91117	.	.	ENSG00000171766	ENST00000396659	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2212	14.6792	0.69004	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000379895:W335X	W	-	2	0	GATM	43444325	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.489000	0.73641	2.531000	0.85337	0.591000	0.81541	TGG	GATM	-	NULL	ENSG00000171766		0.338	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATM	HGNC	protein_coding	OTTHUMT00000254220.2	-	0	52	0	C	NM_001482		45657033	-1	tier1	-	no_errors	ENST00000396659	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	45657033	C	T	45657033	4	4	32	1	0	0	0	0	0	1	0	0	6288	595	21	3	279	3	GATM	15	45657033	Nonsense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	2088267	45657033	56874359	159	7738											
MYO5A	4644	genome.wustl.edu	37	chr15	52720618	52720618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatacgtataaataagtttgGaatcaataaagcggactctg	17	11	8	5	2	2	0	1	0	1	0	2	2	2	2	0	2	2	2	0	2	10	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:52720618G>T	ENST00000399231.3	-	3	530	c.287C>A	c.(286-288)tCc>tAc	p.S96Y	MYO5A_ENST00000553916.1_Missense_Mutation_p.S96Y|MYO5A_ENST00000399233.2_Missense_Mutation_p.S96Y|MYO5A_ENST00000356338.6_Missense_Mutation_p.S96Y|MYO5A_ENST00000358212.6_Missense_Mutation_p.S96Y	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	96	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AATAAGTTTGGAATCAATAAA	0.408																																																	0													130	120	123					15																	52720618		1913	4127	6040	SO:0001583	missense	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.287C>A	15.37:g.52720618G>T	ENSP00000382177:p.Ser96Tyr		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S96Y	ENST00000399231.3	37	c.287	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690164	0.88735	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.76	5.76	0.90799	Myosin head, motor domain (2);	0.048525	0.85682	D	0.000000	D	0.92945	0.7755	M	0.69463	2.115	0.80722	D	1	P;D	0.63046	0.562;0.992	B;P	0.59703	0.411;0.862	D	0.91058	0.4883	10	0.33141	T	0.24	.	19.9571	0.97224	0.0:0.0:1.0:0.0	.	96;96	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	Y	96	ENSP00000382177:S96Y;ENSP00000382179:S96Y;ENSP00000348693:S96Y;ENSP00000350945:S96Y;ENSP00000451109:S96Y	ENSP00000348693:S96Y	S	-	2	0	MYO5A	50507910	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	TCC	MYO5A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197535		0.408	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1		0	52	0	G	NM_000259		52720618	-1			no_errors	ENST00000358212	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	52720618	G	T	52720618	3	4	32	1	0	0	0	0	1	0	0	0	10116	1174	41	3	5436	3	MYO5A	15	52720618	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	7063585	52720618	49810774	160	7739											
RFX7	64864	genome.wustl.edu	37	chr15	56395777	56395777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctcttgtgcccaaacGacgtgccttcatgtttggaa	7	14	9	11	2	2	0	1	0	1	0	2	2	2	1	3	1	4	1	3	1	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:56395777G>T	ENST00000559447.2	-	5	473	c.202C>A	c.(202-204)Cgt>Agt	p.R68S	RFX7_ENST00000423270.1_Missense_Mutation_p.R165S|RFX7_ENST00000317318.6_Missense_Mutation_p.R165S|RFX7_ENST00000422057.1_Missense_Mutation_p.R68S			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	68					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTGCCCAAACGACGTGCCTTC	0.378																																																	0													85	81	82					15																	56395777		1874	4100	5974	SO:0001583	missense	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.202C>A	15.37:g.56395777G>T	ENSP00000453281:p.Arg68Ser		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R165S	ENST00000559447.2	37	c.493		15	.	.	.	.	.	.	.	.	.	.	G	34	5.300499	0.95601	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.92199	-2.99;-2.99;-2.99	5.54	5.54	0.83059	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.64402	D	0.000001	D	0.97040	0.9033	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97512	1.0067	10	0.87932	D	0	-12.161	18.8257	0.92117	0.0:0.0:1.0:0.0	.	68	Q2KHR2	RFX7_HUMAN	S	68;165;165	ENSP00000387504:R68S;ENSP00000313299:R165S;ENSP00000397644:R165S	ENSP00000313299:R165S	R	-	1	0	RFX7	54183069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.763000	0.94921	0.557000	0.71058	CGT	RFX7	-	pfam_DNA-bd_RFX	ENSG00000181827		0.378	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3		0	48	0	G	NM_022841		56395777	-1			no_errors	ENST00000423270	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	56395777	G	T	56395777	3	4	32	1	0	0	0	0	1	0	0	0	13313	1058	37	2	3909	2	RFX7	15	56395777	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3675159	56395777	46135615	161	7740											
TEX9	374618	genome.wustl.edu	37	chr15	56720604	56720604	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgctatctttcactgagGaggaatttatgaaagcactt	13	13	9	6	0	2	3	1	2	1	1	2	5	2	5	0	2	2	2	0	2	4	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:56720604G>T	ENST00000352903.2	+	12	1162	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	TEX9_ENST00000560582.1_Nonsense_Mutation_p.E91*|TEX9_ENST00000537232.1_Nonsense_Mutation_p.E305*|MNS1_ENST00000566386.1_Intron	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	380								p.E380K(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TTTCACTGAGGAGGAATTTAT	0.343																																																	1	Substitution - Missense(1)	skin(1)											111	112	112					15																	56720604		2192	4290	6482	SO:0001587	stop_gained	0			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"testis expressed sequence 9"				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.1138G>T	15.37:g.56720604G>T	ENSP00000342169:p.Glu380*		B4DH73	Nonsense_Mutation	SNP	NULL	p.E380*	ENST00000352903.2	37	c.1138	CCDS10157.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.332471	0.98217	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	.	.	.	5.86	3.95	0.45737	.	0.140823	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-19.9454	15.7495	0.77972	0.0:0.2581:0.7419:0.0	.	.	.	.	X	380;305	.	ENSP00000342169:E380X	E	+	1	0	TEX9	54507896	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	8.955000	0.93058	0.788000	0.33755	-0.172000	0.13284	GAG	TEX9	-	NULL	ENSG00000151575		0.343	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX9	HGNC	protein_coding	OTTHUMT00000255048.2		0	20	0	G	NM_198524		56720604	1			no_errors	ENST00000352903	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T	T	56720604	G	T	56720604	4	4	32	1	0	0	0	0	0	1	0	0	15831	1175	41	3	1184	3	TEX9	15	56720604	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	324827	56720604	45810788	162	7741											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92715088	92715088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagactcctttgtgagaaGctgagggcctggccctcttc	8	10	12	11	0	1	4	0	2	1	3	3	5	2	4	3	2	1	1	3	2	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr15:92715088G>A	ENST00000424469.2	+	11	2128	c.2075G>A	c.(2074-2076)aGc>aAc	p.S692N	RP11-152L20.3_ENST00000561674.1_RNA|RP11-24J19.1_ENST00000557683.1_RNA	NM_001145044.1	NP_001138516.1	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	0					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TTTGTGAGAAGCTGAGGGCCT	0.572																																																	0													85	85	85					15																	92715088		687	1589	2276	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000424469.2:c.2075G>A	15.37:g.92715088G>A	ENSP00000387846:p.Ser692Asn		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.S692N	ENST00000424469.2	37	c.2075	CCDS45354.1	15	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139456	0.77775	.	.	ENSG00000176463	ENST00000424469	T	0.38560	1.13	5.38	5.38	0.77491	.	.	.	.	.	T	0.34513	0.0900	.	.	.	0.21445	N	0.999686	B	0.33238	0.403	B	0.26969	0.075	T	0.32745	-0.9895	8	0.66056	D	0.02	.	14.5121	0.67794	0.0:0.0:1.0:0.0	.	692	Q9UIG8-2	.	N	692	ENSP00000387846:S692N	ENSP00000387846:S692N	S	+	2	0	SLCO3A1	90516092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.982000	0.56909	2.793000	0.96121	0.655000	0.94253	AGC	SLCO3A1	-	NULL	ENSG00000176463		0.572	SLCO3A1-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000414816.1	-	0	47	0	G	NM_013272		92715088	1	tier1	-	no_errors	ENST00000424469	ensembl	human	putative	74_37	missense	37.78	28	17	SNP	1.000	A	A	92715088	G	A	92715088	3	1	32	1	0	0	0	0	1	0	0	0	14773	971	34	3	2254	3	SLCO3A1	15	92715088	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	35994484	92715088	9816304	163	7742											
CACNA1H	8912	genome.wustl.edu	37	chr16	1259375	1259375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcatcgacagccaccGtgaggatgcagccgagcttg	8	6	13	14	4	0	1	0	1	0	0	1	4	0	2	4	1	5	3	4	1	0	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:1259375G>T	ENST00000348261.5	+	17	3955	c.3707G>T	c.(3706-3708)cGt>cTt	p.R1236L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1236L|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1236L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1236					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GACAGCCACCGTGAGGATGCA	0.706																																																	0													27	30	29					16																	1259375		2107	4180	6287	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3707G>T	16.37:g.1259375G>T	ENSP00000334198:p.Arg1236Leu		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R1236L	ENST00000348261.5	37	c.3707	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234674	0.22626	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96459	-4.02;-3.97	3.99	-1.31	0.09230	.	0.677303	0.13303	N	0.398118	D	0.91821	0.7412	L	0.27053	0.805	0.22001	N	0.999426	B;B	0.29612	0.185;0.251	B;B	0.36335	0.222;0.097	D	0.84339	0.0526	10	0.37606	T	0.19	.	9.0907	0.36610	0.4637:0.0:0.5363:0.0	.	1236;1236	O95180-2;O95180	.;CAC1H_HUMAN	L	1236	ENSP00000334198:R1236L;ENSP00000351401:R1236L	ENSP00000334198:R1236L	R	+	2	0	CACNA1H	1199376	0.924000	0.31332	0.965000	0.40720	0.028000	0.11728	0.400000	0.20932	-0.218000	0.10018	0.491000	0.48974	CGT	CACNA1H	-	NULL	ENSG00000196557		0.706	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0	59	0	G	NM_001005407		1259375	1			no_errors	ENST00000348261	ensembl	human	known	74_37	missense	5.71	65	4	SNP	0.987	T	T	1259375	G	T	1259375	3	4	32	1	0	0	0	0	1	0	0	0	2552	1145	40	2	3769	2	CACNA1H	16	1259375	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		1259375	89095378	164	7743											
CASKIN1	57524	genome.wustl.edu	37	chr16	2236814	2236814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccggccatccggatgCtgctcgaggacctggccagt	6	8	12	15	3	0	0	0	0	0	0	3	3	2	2	6	4	2	2	6	4	0	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:2236814C>T	ENST00000343516.6	-	10	1034	c.942G>A	c.(940-942)caG>caA	p.Q314Q	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	314	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CATCCGGATGCTGCTCGAGGA	0.667																																																	0													31	34	33					16																	2236814		2012	4155	6167	SO:0001819	synonymous_variant	0			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.942G>A	16.37:g.2236814C>T			Q9P2P0	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.Q314	ENST00000343516.6	37	c.942	CCDS42103.1	16																																																																																			CASKIN1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000167971		0.667	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	-	0	36	0	C	NM_020764		2236814	-1	tier1	-	no_errors	ENST00000343516	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T	T	2236814	C	T	2236814	2	4	32	1	0	0	0	0	0	0	0	1	2673	796	28	3		3	CASKIN1	16	2236814	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	977439	2236814	88117939	165	7744											
VWA3A	146177	genome.wustl.edu	37	chr16	22128497	22128497	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctacagcccaaagatggaGgtaagcccttctgtcaacac	12	8	9	12	0	2	1	1	0	1	1	2	2	2	2	2	2	5	2	2	2	4	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:22128497G>T	ENST00000389398.5	+	11	1086	c.990G>T	c.(988-990)gaG>gaT	p.E330D	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	330						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAAAGATGGAGGTAAGCCCTT	0.542																																																	0													153	145	148					16																	22128497		1973	4154	6127	SO:0001630	splice_region_variant	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.990+1G>T	16.37:g.22128497G>T			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E330D	ENST00000389398.5	37	c.990	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857825	0.51376	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.16597	2.33	5.49	4.54	0.55810	.	0.814673	0.10587	N	0.657181	T	0.38639	0.1048	M	0.73962	2.25	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	T	0.08911	-1.0699	10	0.72032	D	0.01	.	10.7009	0.45926	0.0883:0.0:0.9117:0.0	.	330	A6NCI4	VWA3A_HUMAN	D	230;330	ENSP00000374049:E330D	ENSP00000308827:E230D	E	+	3	2	VWA3A	22035998	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	2.838000	0.48199	2.578000	0.87016	0.655000	0.94253	GAG	VWA3A	-	NULL	ENSG00000175267		0.542	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	-	0	42	0	G		Missense_Mutation	22128497	1	tier1	-	no_errors	ENST00000389398	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	22128497	G	T	22128497	5	4	32	1	0	0	0	0	0	0	1	0	17289	1014	35	3	1032	3	VWA3A	16	22128497	Splice_Site	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	19891683	22128497	68226256	166	7745											
PRKCB	5579	genome.wustl.edu	37	chr16	23847536	23847536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgccgccgagcgagggcGaggagagcaccgtgcgcttc	6	3	18	14	7	0	1	0	0	0	1	1	5	0	1	4	3	3	2	4	3	0	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:23847536G>A	ENST00000321728.7	+	1	215	c.40G>A	c.(40-42)Gag>Aag	p.E14K	PRKCB_ENST00000498058.1_Missense_Mutation_p.E14K|PRKCB_ENST00000303531.7_Missense_Mutation_p.E14K	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	14					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GAGCGAGGGCGAGGAGAGCAC	0.726																																																	0													40	35	37					16																	23847536		2197	4300	6497	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.40G>A	16.37:g.23847536G>A	ENSP00000318315:p.Glu14Lys		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.E14K	ENST00000321728.7	37	c.40	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	g	11.30	1.599015	0.28534	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.71817	-0.59;-0.6	3.56	-0.065	0.13770	.	0.831089	0.09952	N	0.734469	T	0.43590	0.1254	N	0.12182	0.205	0.42123	D	0.991438	B;B	0.10296	0.0;0.003	B;B	0.08055	0.0;0.003	T	0.33929	-0.9849	10	0.14252	T	0.57	.	2.4415	0.04496	0.1129:0.3486:0.3609:0.1775	.	14;14	P05771-2;P05771	.;KPCB_HUMAN	K	14	ENSP00000318315:E14K;ENSP00000305355:E14K	ENSP00000305355:E14K	E	+	1	0	PRKCB	23755037	0.999000	0.42202	0.997000	0.53966	0.097000	0.18754	1.157000	0.31724	0.129000	0.18514	-0.260000	0.10688	GAG	PRKCB	-	pirsf_Protein_kinase_C_a/b/g	ENSG00000166501		0.726	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	17	0	G	NM_212535		23847536	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	40.00	12	8	SNP	1.000	A	A	23847536	G	A	23847536	3	1	32	1	0	0	0	0	1	0	0	0	12550	1059	37	1	42	1	PRKCB	16	23847536	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1719039	23847536	66507217	167	7746											
RBBP6	5930	genome.wustl.edu	37	chr16	24582688	24582688	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagtaatttggaccgtcTgaatgaacaaggaaatttta	16	11	10	4	1	1	3	0	2	1	1	1	6	1	5	1	2	1	1	1	2	6	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:24582688T>A	ENST00000319715.4	+	18	4733	c.4301T>A	c.(4300-4302)cTg>cAg	p.L1434Q	RBBP6_ENST00000348022.2_Missense_Mutation_p.L1400Q|RBBP6_ENST00000381039.3_Missense_Mutation_p.L594Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1434	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTGGACCGTCTGAATGAACAA	0.403																																																	0													76	73	74					16																	24582688		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4301T>A	16.37:g.24582688T>A	ENSP00000317872:p.Leu1434Gln		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.L1434Q	ENST00000319715.4	37	c.4301	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	T	11.89	1.772946	0.31411	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17854	2.25;2.54;2.54	5.52	4.43	0.53597	.	0.784839	0.10814	N	0.631270	T	0.09598	0.0236	N	0.14661	0.345	0.09310	N	1	B;B;B	0.31351	0.32;0.32;0.214	B;B;B	0.34931	0.192;0.192;0.094	T	0.39333	-0.9619	10	0.12766	T	0.61	0.437	4.7291	0.12955	0.0:0.1718:0.1627:0.6655	.	594;1400;1434	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	Q	594;1434;1400	ENSP00000370427:L594Q;ENSP00000317872:L1434Q;ENSP00000316291:L1400Q	ENSP00000317872:L1434Q	L	+	2	0	RBBP6	24490189	0.003000	0.15002	0.353000	0.25747	0.981000	0.71138	1.246000	0.32803	1.027000	0.39758	0.460000	0.39030	CTG	RBBP6	-	NULL	ENSG00000122257		0.403	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0	35	0	T	NM_006910		24582688	1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.006	A	A	24582688	T	A	24582688	3	1	32	1	0	0	0	0	1	0	0	0	13148	1580	55	5	4425	5	RBBP6	16	24582688	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	735152	24582688	65772065	168	7747											
XPO6	23214	genome.wustl.edu	37	chr16	28128767	28128767	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagtaagcctgcagcgcagCcagggactgagcatgcctgc	10	5	14	12	1	0	2	0	1	0	1	0	3	0	3	3	1	7	4	3	1	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:28128767C>A	ENST00000304658.5	-	15	2376	c.1876G>T	c.(1876-1878)Gct>Tct	p.A626S	XPO6_ENST00000565698.1_Missense_Mutation_p.A612S	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	626					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TGCAGCGCAGCCAGGGACTGA	0.443																																																	0													116	107	110					16																	28128767		1949	4145	6094	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1876G>T	16.37:g.28128767C>A	ENSP00000302790:p.Ala626Ser		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.A626S	ENST00000304658.5	37	c.1876	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	C	35	5.543282	0.96474	.	.	ENSG00000169180	ENST00000304658	T	0.66099	-0.19	5.76	5.76	0.90799	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	M	0.64997	1.995	0.80722	D	1	P;D	0.62365	0.911;0.991	P;P	0.51016	0.505;0.656	T	0.71104	-0.4689	10	0.51188	T	0.08	-11.8762	17.4695	0.87642	0.0:1.0:0.0:0.0	.	626;626	B7ZM10;Q96QU8	.;XPO6_HUMAN	S	626	ENSP00000302790:A626S	ENSP00000302790:A626S	A	-	1	0	XPO6	28036268	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.584000	0.82572	2.727000	0.93392	0.655000	0.94253	GCT	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.443	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	-	0	26	0	C	XM_055195		28128767	-1	tier1	-	no_errors	ENST00000304658	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A	A	28128767	C	A	28128767	3	1	32	1	0	0	0	0	1	0	0	0	17497	739	26	3	1541	3	XPO6	16	28128767	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	3546079	28128767	62225986	169	7748											
NETO2	81831	genome.wustl.edu	37	chr16	47162452	47162452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatataataatgttcatCaaaggtcaactctattcttt	13	18	3	7	0	6	0	3	0	3	0	6	0	6	0	0	1	1	1	0	1	7	9			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:47162452C>A	ENST00000562435.1	-	4	649	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	NETO2_ENST00000303155.5_Missense_Mutation_p.D89Y	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	89	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TAATGTTCATCAAAGGTCAAC	0.358										HNSCC(25;0.065)																																							0													153	160	157					16																	47162452		2202	4300	6502	SO:0001583	missense	0			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.265G>T	16.37:g.47162452C>A	ENSP00000455169:p.Asp89Tyr		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.D89Y	ENST00000562435.1	37	c.265	CCDS10727.1	16	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808461	0.90707	.	.	ENSG00000171208	ENST00000303155	T	0.18810	2.19	5.92	5.92	0.95590	CUB (5);	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.58434	-0.7637	10	0.87932	D	0	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	89;89	Q32NC3;Q8NC67	.;NETO2_HUMAN	Y	89	ENSP00000306726:D89Y	ENSP00000306726:D89Y	D	-	1	0	NETO2	45719953	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.879000	0.56138	2.809000	0.96659	0.655000	0.94253	GAT	NETO2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000171208		0.358	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NETO2	HGNC	protein_coding	OTTHUMT00000256766.2		0	15	0	C	NM_018092		47162452	-1			no_errors	ENST00000562435	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	47162452	C	A	47162452	3	1	32	1	0	0	0	0	1	0	0	0	10379	826	29	3	1336	3	NETO2	16	47162452	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	19033685	47162452	43192301	170	7749											
DDX19B	11269	genome.wustl.edu	37	chr16	70351454	70351454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaatcgtccatccaagAtacaagagaacgcattgcca	14	9	7	11	2	1	2	1	0	0	2	4	3	3	2	3	0	3	2	3	0	5	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:70351454A>G	ENST00000288071.6	+	5	597	c.352A>G	c.(352-354)Ata>Gta	p.I118V	DDX19B_ENST00000393657.2_Missense_Mutation_p.I9V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000570055.1_3'UTR|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.I118V|DDX19B_ENST00000451014.3_Intron|DDX19B_ENST00000355992.3_Intron|DDX19B_ENST00000568625.1_Missense_Mutation_p.I9V|DDX19B_ENST00000563392.1_Missense_Mutation_p.I9V|DDX19B_ENST00000563206.1_Missense_Mutation_p.I123V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	118	N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCCATCCAAGATACAAGAGAA	0.378																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0													151	136	141					16																	70351454		2198	4300	6498	SO:0001583	missense	0			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.352A>G	16.37:g.70351454A>G	ENSP00000288071:p.Ile118Val		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I118V	ENST00000288071.6	37	c.352	CCDS10888.1	16	.	.	.	.	.	.	.	.	.	.	A	22.9	4.355391	0.82243	.	.	ENSG00000157349	ENST00000393657;ENST00000288071	T;T	0.18016	2.24;2.24	5.28	5.28	0.74379	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.49350	1.555	0.80722	D	1	D	0.58268	0.982	P	0.61201	0.885	T	0.01935	-1.1244	10	0.59425	D	0.04	.	13.2183	0.59873	1.0:0.0:0.0:0.0	.	118	Q9UMR2	DD19B_HUMAN	V	9;118	ENSP00000377267:I9V;ENSP00000288071:I118V	ENSP00000288071:I118V	I	+	1	0	DDX19B	68908955	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.654000	0.91092	2.210000	0.71456	0.533000	0.62120	ATA	DDX19B	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000157349		0.378	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3	-	0	63	0	A	NM_007242		70351454	1	tier1	-	no_errors	ENST00000288071	ensembl	human	known	74_37	missense	52.24	32	35	SNP	1.000	G	G	70351454	A	G	70351454	3	3	32	1	0	0	0	0	1	0	0	0	4356	333	12	4	370	4	DDX19B	16	70351454	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	23189002	70351454	20003299	171	7750											
MVD	4597	genome.wustl.edu	37	chr16	88721685	88721685	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcattgaggtaagagatGggcgggaaggtgtcgaggca	11	7	19	4	2	0	2	0	1	0	1	1	5	0	3	0	6	0	3	0	6	2	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:88721685G>T	ENST00000301012.3	-	7	848	c.819C>A	c.(817-819)ccC>ccA	p.P273P	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	273					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGTAAGAGATGGGCGGGAAGG	0.652																																																	0													256	192	214					16																	88721685		2187	4294	6481	SO:0001819	synonymous_variant	0			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"mevalonate pyrophosphate decarboxylase"	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.819C>A	16.37:g.88721685G>T			Q53Y65	Silent	SNP	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb	p.P273	ENST00000301012.3	37	c.819	CCDS10968.1	16	.	.	.	.	.	.	.	.	.	.	G	5.844	0.339993	0.11069	.	.	ENSG00000167508	ENST00000378400	.	.	.	4.53	-2.07	0.07276	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53892	-0.8374	6	0.87932	D	0	-4.5926	3.9348	0.09301	0.1393:0.3501:0.3909:0.1197	.	.	.	.	Q	101	.	ENSP00000367653:P101Q	P	-	2	0	MVD	87249186	0.996000	0.38824	0.958000	0.39756	0.469000	0.32828	0.272000	0.18644	-0.149000	0.11215	0.491000	0.48974	CCA	MVD	-	pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb	ENSG00000167508		0.652	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVD	HGNC	protein_coding	OTTHUMT00000269547.2		0	50	0	G	NM_002461		88721685	-1			no_errors	ENST00000301012	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.993	T	T	88721685	G	T	88721685	2	4	32	1	0	0	0	0	0	0	0	1	10032	1335	47	3		3	MVD	16	88721685	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	18370231	88721685	1633068	172	7751											
C16orf55	124045	genome.wustl.edu	37	chr16	89724680	89724680	+	Missense_Mutation	SNP	C	C	T																															ggagcaaaagaagggatccaCctattcagttccaaaatcta																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:89724680C>T	ENST00000301031.4	+	2	59	c.59C>T	c.(58-60)aCc>aTc	p.T20I	CHMP1A_ENST00000535997.2_5'Flank|CHMP1A_ENST00000253475.5_5'Flank|SPATA33_ENST00000568929.1_5'UTR|SPATA33_ENST00000579310.1_Missense_Mutation_p.T21I|CHMP1A_ENST00000397901.3_5'Flank|CHMP1A_ENST00000550102.1_5'Flank|CHMP1A_ENST00000547614.1_5'Flank	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	20						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAGGGATCCACCTATTCAGTT	0.532																																																	0													83	87	86					16																	89724680		2198	4300	6498	SO:0001583	missense	0			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.59C>T	16.37:g.89724680C>T	ENSP00000301031:p.Thr20Ile		A8WFL2|B4DZN8	Missense_Mutation	SNP	NULL	p.T21I	ENST00000301031.4	37	c.62	CCDS10983.1	16	.	.	.	.	.	.	.	.	.	.	C	5.844	0.339902	0.11069	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.43294	0.95	3.03	-0.176	0.13311	.	.	.	.	.	T	0.20333	0.0489	N	0.12182	0.205	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.09377	0.002;0.003;0.004	T	0.21280	-1.0250	9	0.24483	T	0.36	.	5.3138	0.15845	0.0:0.6037:0.1715:0.2248	.	21;34;20	B4DZN8;Q86XC3;Q96N06	.;.;CP055_HUMAN	I	20;21	ENSP00000301031:T20I	ENSP00000301031:T20I	T	+	2	0	C16orf55	88252181	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.010000	0.12743	-0.207000	0.10187	-0.962000	0.02626	ACC	SPATA33	-	NULL	ENSG00000167523		0.532	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA33	HGNC	protein_coding	OTTHUMT00000269924.2	-	0	77	0	C	NM_153025		89724680	1	tier1	-	no_errors	ENST00000579310	ensembl	human	known	74_37	missense	22.32	87	25	SNP	0.000	T	T	89724680	C	T	89724680	3	4	32	1	0	0	0	0	1	0	0	0	1825	507	18	3	65	3	C16orf55	16	89724680	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	1002995	89724680	630073	173	7752	30	2									
C16orf55	124045	genome.wustl.edu	37	chr16	89724682	89724682	+	Missense_Mutation	SNP	T	T	C																															agcaaaagaagggatccaccTattcagttccaaaatctaag																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr16:89724682T>C	ENST00000301031.4	+	2	61	c.61T>C	c.(61-63)Tat>Cat	p.Y21H	CHMP1A_ENST00000535997.2_5'Flank|CHMP1A_ENST00000253475.5_5'Flank|SPATA33_ENST00000568929.1_5'UTR|SPATA33_ENST00000579310.1_Missense_Mutation_p.Y22H|CHMP1A_ENST00000397901.3_5'Flank|CHMP1A_ENST00000550102.1_5'Flank|CHMP1A_ENST00000547614.1_5'Flank	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	21						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GGGATCCACCTATTCAGTTCC	0.532																																																	0													82	86	85					16																	89724682		2198	4300	6498	SO:0001583	missense	0			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.61T>C	16.37:g.89724682T>C	ENSP00000301031:p.Tyr21His		A8WFL2|B4DZN8	Missense_Mutation	SNP	NULL	p.Y22H	ENST00000301031.4	37	c.64	CCDS10983.1	16	.	.	.	.	.	.	.	.	.	.	T	9.897	1.205793	0.22205	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.44881	0.91	3.03	-6.06	0.02165	.	.	.	.	.	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.15954	-1.0419	9	0.46703	T	0.11	.	4.595	0.12325	0.3261:0.4218:0.0:0.2521	.	22;35;21	B4DZN8;Q86XC3;Q96N06	.;.;CP055_HUMAN	H	21;22	ENSP00000301031:Y21H	ENSP00000301031:Y21H	Y	+	1	0	C16orf55	88252183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.826000	0.01705	-1.693000	0.01427	-2.525000	0.00183	TAT	SPATA33	-	NULL	ENSG00000167523		0.532	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA33	HGNC	protein_coding	OTTHUMT00000269924.2	-	0	79	0	T	NM_153025		89724682	1	tier1	-	no_errors	ENST00000579310	ensembl	human	known	74_37	missense	22.32	87	25	SNP	0.000	C	C	89724682	T	C	89724682	3	2	32	1	0	0	0	0	1	0	0	0	1825	1522	53	4	67	4	C16orf55	16	89724682	Missense_Mutation	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	2	89724682	630071	174	7753	30	2									
ACADVL	37	genome.wustl.edu	37	chr17	7127299	7127299	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctaggaacctggagtaGagcgtgtgctccgagatctt	8	11	14	8	2	1	2	0	0	1	2	2	5	2	4	2	2	4	3	2	2	3	3	rs398123081		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:7127299G>T	ENST00000356839.5	+	14	1524	c.1345G>T	c.(1345-1347)Gag>Tag	p.E449*	ACADVL_ENST00000543245.2_Nonsense_Mutation_p.E472*|ACADVL_ENST00000350303.5_Nonsense_Mutation_p.E427*|MIR324_ENST00000362183.1_RNA	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	449	Catalytic.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						ACCTGGAGTAGAGCGTGTGCT	0.557																																																	0													90	88	89					17																	7127299		2203	4300	6503	SO:0001587	stop_gained	0			BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"acyl-Coenzyme A dehydrogenase, very long chain"			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.1345G>T	17.37:g.7127299G>T	ENSP00000349297:p.Glu449*		B4DEB6|F5H2A9|O76056|Q8WUL0	Nonsense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.E449*	ENST00000356839.5	37	c.1345	CCDS11090.1	17	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725824	0.69074	.	.	ENSG00000072778	ENST00000543245;ENST00000356839;ENST00000350303;ENST00000322910;ENST00000542255	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.4119	0.74933	0.0:0.0:1.0:0.0	.	.	.	.	X	472;495;427;449;495	.	ENSP00000325395:E449X	E	+	1	0	ACADVL	7068023	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	8.267000	0.89874	2.719000	0.93026	0.655000	0.94253	GAG	ACADVL	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000072778		0.557	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	HGNC	protein_coding	OTTHUMT00000220001.5		0	34	0	G	NM_000018		7127299	1			no_errors	ENST00000356839	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	7127299	G	T	7127299	4	4	32	1	0	0	0	0	0	1	0	0	116	943	33	3	1399	3	ACADVL	17	7127299	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		7127299	74067911	175	7754											
TP53	7157	genome.wustl.edu	37	chr17	7578291	7578291	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaggaggggccagaccTaagagcaatcagtgaggaat	13	6	15	7	0	1	4	1	2	0	2	1	6	1	6	2	4	2	2	2	4	3	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:7578291T>A	ENST00000269305.4	-	6	749		c.e6-2		TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCCAGACCTAAGAGCAATC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	30	Unknown(16)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(7)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|liver(3)|central_nervous_system(2)|breast(2)|thyroid(1)|stomach(1)|kidney(1)|urinary_tract(1)|oesophagus(1)|ovary(1)	GRCh37	CS941545	TP53	S							80	72	75					17																	7578291		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.560-2A>T	17.37:g.7578291T>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e5-2	ENST00000269305.4	37	c.560-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	9.074	0.997681	0.19043	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9475	0.47310	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519016	0.998000	0.40836	0.996000	0.52242	0.034000	0.12701	2.807000	0.47955	1.912000	0.55364	0.460000	0.39030	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	54	0	T	NM_000546	Intron	7578291	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	44.00	28	22	SNP	1.000	A	A	7578291	T	A	7578291	5	1	32	1	0	0	0	0	0	0	1	0	16429	1536	53	5	736	5	TP53	17	7578291	Splice_Site	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	450992	7578291	73616919	176	7755											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctgggtcaccctgcaCgcctctgctccccatggctg	3	9	11	18	2	3	0	1	0	2	0	4	0	4	0	5	2	2	3	5	2	0	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672																																																	0													68	70	69					17																	8215743		2203	4300	6503	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.386C>T	17.37:g.8215743C>T	ENSP00000355026:p.Thr129Met		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.T129M	ENST00000361926.3	37	c.386	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	0.624	-0.819827	0.02776	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.71817	-0.6;-0.6	4.87	2.89	0.33648	.	2.365140	0.01590	N	0.021519	T	0.58018	0.2093	N	0.19112	0.55	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.41787	-0.9489	10	0.28530	T	0.3	0.2461	7.6286	0.28226	0.0:0.8068:0.0:0.1932	.	129;129	D3DTR7;O94989	.;ARHGF_HUMAN	M	129	ENSP00000355026:T129M;ENSP00000412505:T129M	ENSP00000355026:T129M	T	+	2	0	ARHGEF15	8156468	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.784000	0.26816	0.672000	0.31204	-0.263000	0.10527	ACG	ARHGEF15	-	NULL	ENSG00000198844		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2		0	87	0	C	NM_173728		8215743	1			no_errors	ENST00000361926	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.001	T	T	8215743	C	T	8215743	3	4	32	1	0	0	0	0	1	0	0	0	898	536	19	1	388	1	ARHGEF15	17	8215743	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	637452	8215743	72979467	177	7756											
TOP3A	7156	genome.wustl.edu	37	chr17	18202892	18202892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgtccaaggcttgaGgccgccacttgctcttgggc	6	9	12	14	1	1	1	0	1	1	0	2	1	2	1	4	3	1	2	4	3	1	3	rs34256024		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:18202892G>A	ENST00000321105.5	-	9	1185	c.971C>T	c.(970-972)cCt>cTt	p.P324L	TOP3A_ENST00000542570.1_Missense_Mutation_p.P229L|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	324					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CAAGGCTTGAGGCCGCCACTT	0.512																																																	0													317	279	292					17																	18202892		2203	4300	6503	SO:0001583	missense	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.971C>T	17.37:g.18202892G>A	ENSP00000321636:p.Pro324Leu		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.P324L	ENST00000321105.5	37	c.971	CCDS11194.1	17	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144554	0.57044	.	.	ENSG00000177302	ENST00000321105;ENST00000542570	T;T	0.32753	1.44;1.44	5.5	5.5	0.81552	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.045256	0.85682	D	0.000000	T	0.74566	0.3733	H	0.98818	4.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85269	0.1055	10	0.87932	D	0	-8.5716	19.8217	0.96599	0.0:0.0:1.0:0.0	.	229;324	B4DK80;Q13472	.;TOP3A_HUMAN	L	324;229	ENSP00000321636:P324L;ENSP00000442336:P229L	ENSP00000321636:P324L	P	-	2	0	TOP3A	18143617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.594000	0.98254	2.758000	0.94735	0.644000	0.83932	CCT	TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd	ENSG00000177302		0.512	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	-	0	69	0	G			18202892	-1	tier1	-	no_errors	ENST00000321105	ensembl	human	known	74_37	missense	51.11	22	23	SNP	1.000	A	A	18202892	G	A	18202892	3	1	32	1	0	0	0	0	1	0	0	0	16415	1000	35	3	2078	3	TOP3A	17	18202892	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	9987149	18202892	62992318	178	7757											
LGALS9C	654346	genome.wustl.edu	37	chr17	18396131	18396131	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtctgaggagcgaagTctgccccgaaaaatgccctt	9	8	14	10	2	2	1	0	1	2	0	2	4	2	2	3	3	3	0	3	3	3	1	rs138238232	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:18396131T>C	ENST00000328114.6	+	10	963	c.882T>C	c.(880-882)agT>agC	p.S294S	LGALS9C_ENST00000584941.1_Intron|LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Silent_p.S206S|LGALS9C_ENST00000583322.1_Silent_p.S261S	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	294	Beta-galactoside binding 2. {ECO:0000250}.|Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AGGAGCGAAGTCTGCCCCGAA	0.592																																																	0													34	21	25					17																	18396131		2181	4064	6245	SO:0001819	synonymous_variant	0				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"Lectins, galactoside-binding"	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.882T>C	17.37:g.18396131T>C			B0AZM7	Silent	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.S294	ENST00000328114.6	37	c.882	CCDS32587.1	17																																																																																			LGALS9C	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000171916		0.592	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LGALS9C	HGNC	protein_coding	OTTHUMT00000131456.2	-	0	63	0	T	NM_001040078		18396131	1	tier1	rs138238232	no_errors	ENST00000328114	ensembl	human	known	74_37	silent	14.04	49	8	SNP	0.081	C	C	18396131	T	C	18396131	2	2	32	1	0	0	0	0	0	0	0	1	8779	1664	58	4		4	LGALS9C	17	18396131	Silent	SNP	T	TCGA-IG-A97H-01A-11D-A387-09	193239	18396131	62799079	179	7758											
TUBG2	27175	genome.wustl.edu	37	chr17	40818726	40818726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggacaactttgatgagatgGacaggtctagggaggttgtt	11	11	15	4	0	1	2	0	2	1	1	1	6	1	5	0	5	1	2	0	5	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:40818726G>C	ENST00000251412.7	+	11	1463	c.1264G>C	c.(1264-1266)Gac>Cac	p.D422H	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	422					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TGATGAGATGGACAGGTCTAG	0.537																																																	0													125	109	114					17																	40818726		2203	4300	6503	SO:0001583	missense	0			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1264G>C	17.37:g.40818726G>C	ENSP00000251412:p.Asp422His		A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.D422H	ENST00000251412.7	37	c.1264	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996141	0.54147	.	.	ENSG00000037042	ENST00000251412	D	0.84660	-1.88	5.07	4.09	0.47781	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.051444	0.85682	N	0.000000	D	0.91646	0.7360	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	D	0.93416	0.6773	10	0.72032	D	0.01	-42.1492	15.8822	0.79211	0.0:0.1353:0.8647:0.0	.	422	Q9NRH3	TBG2_HUMAN	H	422	ENSP00000251412:D422H	ENSP00000251412:D422H	D	+	1	0	TUBG2	38072252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.414000	0.66405	1.342000	0.45619	0.561000	0.74099	GAC	TUBG2	-	superfamily_Tub_FtsZ_C,prints_Gamma_tubulin	ENSG00000037042		0.537	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	-	0	78	0	G	NM_016437		40818726	1	tier1	-	no_errors	ENST00000251412	ensembl	human	known	74_37	missense	34.72	47	25	SNP	1.000	C	C	40818726	G	C	40818726	3	2	32	1	0	0	0	0	1	0	0	0	16814	1174	41	5	1306	5	TUBG2	17	40818726	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	22422595	40818726	40376484	180	7759											
C17orf57	124989	genome.wustl.edu	37	chr17	45422437	45422437	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatatgatgaagtaacccatGgatatttacactcaaaagaa	18	11	6	6	0	1	3	1	2	0	1	1	4	1	4	1	1	2	1	1	1	9	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:45422437G>T	ENST00000331493.2	+	8	901	c.490G>T	c.(490-492)Gga>Tga	p.G164*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.G164*	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	164						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										AGTAACCCATGGATATTTACA	0.328																																																	0													96	104	102					17																	45422437		2203	4298	6501	SO:0001587	stop_gained	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.490G>T	17.37:g.45422437G>T	ENSP00000332111:p.Gly164*		G3V128|Q49AG9	Nonsense_Mutation	SNP	NULL	p.G164*	ENST00000331493.2	37	c.490	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938307	0.73557	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	.	.	.	3.52	1.42	0.22433	.	0.665365	0.13170	N	0.408376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.6508	4.686	0.12758	0.128:0.2263:0.6458:0.0	.	.	.	.	X	164	.	ENSP00000332111:G164X	G	+	1	0	C17orf57	42777436	0.030000	0.19436	0.001000	0.08648	0.036000	0.12997	0.357000	0.20199	0.269000	0.21961	0.484000	0.47621	GGA	EFCAB13	-	NULL	ENSG00000178852		0.328	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	-	0	50	0	G	NM_152347		45422437	1	tier1	-	no_errors	ENST00000331493	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.001	T	T	45422437	G	T	45422437	4	4	32	1	0	0	0	0	0	1	0	0	1871	1349	47	3	508	3	C17orf57	17	45422437	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	4603711	45422437	35772773	181	7760											
NFE2L1	4779	genome.wustl.edu	37	chr17	46133885	46133885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcgagcaggacacctgGgcaggcgagggcgcggaagc	9	1	21	10	4	0	0	0	0	0	0	0	5	0	3	1	7	2	2	1	7	1	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:46133885G>T	ENST00000362042.3	+	3	1264	c.648G>T	c.(646-648)tgG>tgT	p.W216C	NFE2L1_ENST00000357480.5_Missense_Mutation_p.W216C|NFE2L1_ENST00000361665.3_Missense_Mutation_p.W205C|NFE2L1_ENST00000585291.1_Missense_Mutation_p.W216C|NFE2L1_ENST00000582155.1_Missense_Mutation_p.W58C|NFE2L1_ENST00000583378.1_Missense_Mutation_p.W47C|NFE2L1_ENST00000536222.1_Missense_Mutation_p.W90C	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	216	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGACACCTGGGCAGGCGAGG	0.622																																																	0													143	145	144					17																	46133885		2203	4300	6503	SO:0001583	missense	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.648G>T	17.37:g.46133885G>T	ENSP00000354855:p.Trp216Cys		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.W216C	ENST00000362042.3	37	c.648	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401373	0.83120	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.19669	2.38;2.13	5.41	5.41	0.78517	.	0.081152	0.53938	D	0.000043	T	0.43765	0.1262	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.997;0.935;0.992	T	0.10109	-1.0644	10	0.33940	T	0.23	-9.398	16.0974	0.81135	0.0:0.0:1.0:0.0	.	90;58;216;216	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	C	235;216;216;90	ENSP00000350072:W216C;ENSP00000445811:W90C	ENSP00000350072:W216C	W	+	3	0	NFE2L1	43488884	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.890000	0.63178	2.544000	0.85801	0.591000	0.81541	TGG	NFE2L1	-	NULL	ENSG00000082641		0.622	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	-	0	34	0	G	NM_003204		46133885	1	tier1	-	no_errors	ENST00000362042	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	46133885	G	T	46133885	3	4	32	1	0	0	0	0	1	0	0	0	10406	1241	43	3	654	3	NFE2L1	17	46133885	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	711448	46133885	35061325	182	7761											
DDX5	1655	genome.wustl.edu	37	chr17	62496054	62496054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaagtcttattgggaatatCctgttggcattggataacca	12	14	9	6	0	1	0	0	0	1	0	2	2	2	2	2	3	1	2	2	3	6	7			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:62496054C>A	ENST00000225792.5	-	13	2233	c.1832G>T	c.(1831-1833)gGa>gTa	p.G611V	DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.G611V|MIR3064_ENST00000581130.1_RNA|POLG2_ENST00000539111.2_5'Flank|DDX5_ENST00000450599.2_Missense_Mutation_p.G532V|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	611	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTGGGAATATCCTGTTGGCAT	0.343			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													99	84	89					17																	62496054		2203	4300	6503	SO:0001583	missense	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1832G>T	17.37:g.62496054C>A	ENSP00000225792:p.Gly611Val		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G611V	ENST00000225792.5	37	c.1832	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	9.638	1.138259	0.21123	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.87	4.9	0.64082	.	0.574764	0.19056	N	0.123888	T	0.31009	0.0783	N	0.08118	0	0.50171	D	0.999856	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.12156	0.007;0.007;0.007	T	0.16394	-1.0404	9	0.66056	D	0.02	-10.6043	8.2617	0.31788	0.0:0.7376:0.1299:0.1324	.	532;611;611	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	V	611;541;600	.	ENSP00000225792:G600V	G	-	2	0	DDX5	59926516	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.096000	0.30976	2.780000	0.95670	0.655000	0.94253	GGA	DDX5	-	NULL	ENSG00000108654		0.343	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	-	0	30	0	C	NM_004396		62496054	-1	tier1	-	no_errors	ENST00000225792	ensembl	human	known	74_37	missense	53.85	18	21	SNP	0.996	A	A	62496054	C	A	62496054	3	1	32	1	0	0	0	0	1	0	0	0	4376	855	30	3	16	3	DDX5	17	62496054	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	16362169	62496054	18699156	183	7762											
ABCA9	10350	genome.wustl.edu	37	chr17	67023947	67023947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgtgattatagacaGtgactgaacctgaaagcaga	16	9	11	5	0	0	6	0	4	0	2	0	6	0	6	1	0	2	1	1	0	5	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr17:67023947G>T	ENST00000340001.4	-	13	1836	c.1625C>A	c.(1624-1626)aCt>aAt	p.T542N	ABCA9_ENST00000370732.2_Missense_Mutation_p.T542N|ABCA9_ENST00000453985.2_Missense_Mutation_p.T542N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	542	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTATAGACAGTGACTGAACC	0.363																																																	0													73	73	73					17																	67023947		2202	4300	6502	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1625C>A	17.37:g.67023947G>T	ENSP00000342216:p.Thr542Asn		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T542N	ENST00000340001.4	37	c.1625	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547370	0.45383	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;T;D	0.94092	-3.35;-0.03;-3.35	5.34	4.32	0.51571	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.49916	D	0.000133	D	0.94125	0.8116	L	0.35542	1.07	0.42504	D	0.992948	D;P	0.67145	0.996;0.949	D;P	0.74674	0.984;0.843	D	0.94477	0.7690	10	0.62326	D	0.03	.	15.4019	0.74845	0.0:0.1393:0.8607:0.0	.	542;542	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	N	542;525;542;537	ENSP00000342216:T542N;ENSP00000394264:T525N;ENSP00000359767:T542N	ENSP00000342216:T542N	T	-	2	0	ABCA9	64535542	0.040000	0.19996	1.000000	0.80357	0.171000	0.22731	0.996000	0.29719	2.666000	0.90696	0.591000	0.81541	ACT	ABCA9	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154258		0.363	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	-	0	29	0	G	NM_172386		67023947	-1	tier1	-	no_errors	ENST00000340001	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	67023947	G	T	67023947	3	4	32	1	0	0	0	0	1	0	0	0	39	1029	36	3	3357	3	ABCA9	17	67023947	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	4527893	67023947	14171263	184	7763											
C18orf1	753	genome.wustl.edu	37	chr18	13645351	13645351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcaaccgagagtccgtgAgggccccacccaaccgaacc	12	3	9	17	3	1	2	1	1	0	1	2	4	2	2	7	1	4	0	7	1	4	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr18:13645351A>G	ENST00000359446.5	+	6	1084	c.616A>G	c.(616-618)Agg>Ggg	p.R206G	LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R188G|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R129G|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R169G|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R206G|LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R151G|LDLRAD4_ENST00000592991.1_Missense_Mutation_p.R108G	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	206					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.R169W(2)|p.R206W(2)									AGAGTCCGTGAGGGCCCCACC	0.587																																																	4	Substitution - Missense(4)	lung(4)											78	86	83					18																	13645351		2203	4300	6503	SO:0001583	missense	0			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.616A>G	18.37:g.13645351A>G	ENSP00000352420:p.Arg206Gly		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.R206G	ENST00000359446.5	37	c.616	CCDS32793.1	18	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610988	0.66558	.	.	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.41758	0.99;1.11	5.17	-0.768	0.11013	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.84326	2.69	0.53688	D	0.999971	D;D;D;D;D;D	0.89917	0.997;0.998;0.997;0.998;1.0;1.0	D;D;D;D;D;D	0.87578	0.993;0.995;0.993;0.995;0.998;0.996	T	0.70934	-0.4737	10	0.87932	D	0	-9.0324	14.7064	0.69194	0.4537:0.5463:0.0:0.0	.	130;148;151;169;188;206	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	G	206;188;169;151;148;130	ENSP00000354753:R206G;ENSP00000382741:R188G	ENSP00000352420:R169G	R	+	1	2	C18orf1	13635351	0.997000	0.39634	0.992000	0.48379	0.984000	0.73092	0.660000	0.25009	-0.009000	0.14296	0.533000	0.62120	AGG	LDLRAD4	-	NULL	ENSG00000168675		0.587	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1		0	41	0	A	NM_181481		13645351	1			no_errors	ENST00000359446	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.993	G	G	13645351	A	G	13645351	3	3	32	1	0	0	0	0	1	0	0	0	1901	295	11	4	715	4	C18orf1	18	13645351	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09		13645351	64431897	185	7764											
PIGN	23556	genome.wustl.edu	37	chr18	59813201	59813201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggggatacttgattccaGctccccaagtgactaaagga	11	11	10	9	0	0	2	0	2	0	0	2	4	2	4	3	3	2	1	3	3	4	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr18:59813201G>T	ENST00000357637.5	-	10	1278	c.863C>A	c.(862-864)gCt>gAt	p.A288D	PIGN_ENST00000400334.3_Missense_Mutation_p.A288D	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	288					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CTTGATTCCAGCTCCCCAAGT	0.358																																																	0													49	48	48					18																	59813201		1830	4083	5913	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.863C>A	18.37:g.59813201G>T	ENSP00000350263:p.Ala288Asp		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.A288D	ENST00000357637.5	37	c.863	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979828	0.92982	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.28454	1.61;1.61	5.87	5.87	0.94306	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.64316	0.2587	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65738	-0.6095	9	.	.	.	-19.2387	20.5827	0.99408	0.0:0.0:1.0:0.0	.	288;288	B2RCI8;O95427	.;PIGN_HUMAN	D	288	ENSP00000350263:A288D;ENSP00000383188:A288D	.	A	-	2	0	PIGN	57964181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.590000	0.90821	2.941000	0.99782	0.655000	0.94253	GCT	PIGN	-	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000197563		0.358	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2	-	0	66	0	G	NM_176787		59813201	-1	tier1	-	no_errors	ENST00000357637	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	59813201	G	T	59813201	3	4	32	1	0	0	0	0	1	0	0	0	11932	971	34	3	2020	3	PIGN	18	59813201	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	46167850	59813201	18264047	186	7765											
PTBP1	5725	genome.wustl.edu	37	chr19	806468	806468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcccctcggcggcggCggcagctgcggcggcaggtc	3	4	18	16	6	0	0	0	0	0	0	3	0	1	0	3	8	2	3	3	8	0	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:806468C>T	ENST00000349038.4	+	9	1026	c.953C>T	c.(952-954)gCg>gTg	p.A318V	PTBP1_ENST00000356948.6_Missense_Mutation_p.A344V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A337V|PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	318	Poly-Ala.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCGGCGGCGGCAGCTGCG	0.692																																																	0													15	16	16					19																	806468		2183	4263	6446	SO:0001583	missense	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.953C>T	19.37:g.806468C>T	ENSP00000014112:p.Ala318Val		Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.A344V	ENST00000349038.4	37	c.1031	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540193	0.27563	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.49432	0.78;0.78;1.06	4.29	3.24	0.37175	.	0.191888	0.44688	D	0.000421	T	0.34571	0.0902	L	0.48986	1.54	0.80722	D	1	B;P;P	0.45768	0.086;0.866;0.789	B;B;B	0.33042	0.005;0.157;0.154	T	0.12218	-1.0556	10	0.33141	T	0.24	-8.5882	10.9523	0.47336	0.0:0.9075:0.0:0.0925	.	318;337;344	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	344;337;318	ENSP00000349428:A344V;ENSP00000408096:A337V;ENSP00000014112:A318V	ENSP00000014112:A318V	A	+	2	0	PTBP1	757468	1.000000	0.71417	0.011000	0.14972	0.017000	0.09413	7.247000	0.78257	0.790000	0.33803	0.563000	0.77884	GCG	PTBP1	-	tigrfam_HnRNP-L_PTB	ENSG00000011304		0.692	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1		0	75	0	C			806468	1			no_errors	ENST00000356948	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.973	T	T	806468	C	T	806468	3	4	32	1	0	0	0	0	1	0	0	0	12767	768	27	1	1069	1	PTBP1	19	806468	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		806468	58322515	187	7766											
WDR18	57418	genome.wustl.edu	37	chr19	991108	991108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagggagaggagcttccacCcagagcaggacgccgggaag	12	2	17	10	2	0	3	0	0	0	3	1	7	1	6	3	4	2	2	3	4	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:991108C>A	ENST00000251289.5	+	6	792	c.769C>A	c.(769-771)Cca>Aca	p.P257T	WDR18_ENST00000587001.2_Missense_Mutation_p.P257T	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	257					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTTCCACCCAGAGCAGGA	0.701																																																	0													43	36	38					19																	991108		2185	4289	6474	SO:0001583	missense	0				CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"WD repeat domain containing"	17956	protein-coding gene	gene with protein product	"Involved in Processing ITS2 3 homolog (S. cerevisiae)"					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.769C>A	19.37:g.991108C>A	ENSP00000251289:p.Pro257Thr		O60390|Q9BWR2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P257T	ENST00000251289.5	37	c.769	CCDS12051.1	19	.	.	.	.	.	.	.	.	.	.	C	1.339	-0.594758	0.03771	.	.	ENSG00000065268	ENST00000251289	T	0.72051	-0.62	3.62	1.29	0.21616	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.433499	0.25329	N	0.031442	T	0.40570	0.1122	N	0.04880	-0.145	0.36160	D	0.848069	B	0.15473	0.013	B	0.11329	0.006	T	0.21999	-1.0229	10	0.11182	T	0.66	.	6.0613	0.19839	0.2423:0.6413:0.0:0.1164	.	257	Q9BV38	WDR18_HUMAN	T	257	ENSP00000251289:P257T	ENSP00000251289:P257T	P	+	1	0	WDR18	942108	0.924000	0.31332	0.952000	0.39060	0.335000	0.28730	0.266000	0.18534	0.740000	0.32651	0.591000	0.81541	CCA	WDR18	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000065268		0.701	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR18	HGNC	protein_coding	OTTHUMT00000458225.2	-	0	57	0	C			991108	1	tier1	-	no_errors	ENST00000251289	ensembl	human	known	74_37	missense	45.59	37	31	SNP	0.821	A	A	991108	C	A	991108	3	1	32	1	0	0	0	0	1	0	0	0	17327	623	22	3	791	3	WDR18	19	991108	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	184640	991108	58137875	188	7767											
CSNK1G2	1455	genome.wustl.edu	37	chr19	1969882	1969884	+	In_Frame_Del	DEL	GGG	GGG	-																															cggagctcggggaccagctcGggggtcctgatggtgggccc																								rs56218768	byFrequency	TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	GGG	GGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:1969882_1969884delGGG	ENST00000255641.8	+	2	606_608	c.111_113delGGG	c.(109-114)tcgggg>tcg	p.G38del		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	38					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACCAGCTCGGGGGTCCTGATG	0.685																																					Ovarian(91;880 1392 21236 36928 37598)												0																																										SO:0001651	inframe_deletion	0			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.111_113delGGG	19.37:g.1969882_1969884delGGG	ENSP00000255641:p.Gly38del		B5BU42|O00704|Q8WUB1	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G38in_frame_del	ENST00000255641.8	37	c.111_113	CCDS12077.1	19																																																																																			CSNK1G2	-	NULL	ENSG00000133275		0.685	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2	HGNC	protein_coding	OTTHUMT00000449287.1		0	120	0	GGG	NM_001319		1969884	1			no_errors	ENST00000255641	ensembl	human	known	74_37	in_frame_del	8.24	78	7	DEL	0.105:0.997:1.000	0	-	1969884	GGG	-	1969882	7	5	32	1	0	1	0	1	0	0	0	0	3964	1103	39	0	113	0	CSNK1G2	19	1969882	In_Frame_Del	DEL	GGG	TCGA-IG-A97H-01A-11D-A387-09	978774	1969882	57159101	189	7768											
SAFB2	9667	genome.wustl.edu	37	chr19	5621406	5621406	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccctcttctttaaccGcctattagggagagatgagt	8	13	9	11	1	2	2	0	1	2	1	2	4	2	3	4	1	2	0	4	1	3	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:5621406G>A	ENST00000252542.4	-	2	452	c.188C>T	c.(187-189)gCg>gTg	p.A63V	SAFB_ENST00000433404.1_5'Flank|SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000588852.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	63	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TTCTTTAACCGCCTATTAGGG	0.438																																					Ovarian(127;888 1728 23957 44128 52668)												0													209	194	199					19																	5621406		2203	4300	6503	SO:0001630	splice_region_variant	0			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"RNA binding motif (RRM) containing"	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.187-1C>T	19.37:g.5621406G>A			B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.A63V	ENST00000252542.4	37	c.188	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995038	0.74703	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542;ENST00000536849	T	0.14640	2.49	4.35	4.35	0.52113	DNA-binding SAP (4);	0.000000	0.45867	D	0.000336	T	0.34250	0.0891	M	0.85542	2.76	0.80722	D	1	D;P	0.56521	0.976;0.916	P;B	0.53224	0.721;0.239	T	0.43750	-0.9372	10	0.56958	D	0.05	-22.4484	16.8731	0.86044	0.0:0.0:1.0:0.0	.	63;63	A0PJ47;Q14151	.;SAFB2_HUMAN	V	63;63;63;63;42	ENSP00000252542:A63V	ENSP00000252542:A63V	A	-	2	0	SAFB2	5572406	1.000000	0.71417	0.798000	0.32154	0.331000	0.28603	7.831000	0.86748	1.962000	0.57031	0.462000	0.41574	GCG	SAFB2	-	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	ENSG00000130254		0.438	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	HGNC	protein_coding	OTTHUMT00000451016.1	-	0	36	0	G	NM_014649	Missense_Mutation	5621406	-1	tier1	-	no_errors	ENST00000252542	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.997	A	A	5621406	G	A	5621406	5	1	32	1	0	0	0	0	0	0	1	0	13852	1101	38	1	2753	1	SAFB2	19	5621406	Splice_Site	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3651524	5621406	53507577	190	7769											
HNRNPM	4670	genome.wustl.edu	37	chr19	8536251	8536251	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttaggaccaggagggCaacccattgatgccaatcac	11	7	13	10	0	1	1	1	1	0	0	1	3	1	3	3	5	2	2	3	5	3	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:8536251C>T	ENST00000325495.4	+	10	978	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	HNRNPM_ENST00000348943.3_Nonsense_Mutation_p.Q274*	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	313					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ACCAGGAGGGCAACCCATTGA	0.488																																																	0													113	87	96					19																	8536251		2203	4300	6503	SO:0001587	stop_gained	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.937C>T	19.37:g.8536251C>T	ENSP00000325376:p.Gln313*		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.Q313*	ENST00000325495.4	37	c.937	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	C	40	8.100933	0.98654	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.2373	0.89954	0.0:1.0:0.0:0.0	.	.	.	.	X	313;274;213	.	ENSP00000325376:Q313X	Q	+	1	0	HNRNPM	8442251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.815000	0.86186	2.721000	0.93114	0.655000	0.94253	CAA	HNRNPM	-	NULL	ENSG00000099783		0.488	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	-	0	74	0	C			8536251	1	tier1	-	no_errors	ENST00000325495	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	T	T	8536251	C	T	8536251	4	4	32	1	0	0	0	0	0	1	0	0	7298	711	25	3	975	3	HNRNPM	19	8536251	Nonsense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	2914845	8536251	50592732	191	7770											
MUC16	94025	genome.wustl.edu	37	chr19	9066912	9066912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggcttgtgcccaatGtgtctgtggtcatcactagg	5	14	13	9	0	4	0	2	0	2	0	4	0	4	0	1	3	1	2	1	3	2	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:9066912G>A	ENST00000397910.4	-	3	20737	c.20534C>T	c.(20533-20535)aCa>aTa	p.T6845I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6847	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGCCCAATGTGTCTGTGGT	0.473																																																	0													163	155	158					19																	9066912		2058	4207	6265	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20534C>T	19.37:g.9066912G>A	ENSP00000381008:p.Thr6845Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T6845I	ENST00000397910.4	37	c.20534	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.707248	0.00719	.	.	ENSG00000181143	ENST00000397910	T	0.19250	2.16	1.76	-3.52	0.04682	.	.	.	.	.	T	0.06096	0.0158	N	0.01874	-0.695	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	8	0.87932	D	0	.	0.4115	0.00441	0.2107:0.1615:0.2735:0.3543	.	6845	B5ME49	.	I	6845	ENSP00000381008:T6845I	ENSP00000381008:T6845I	T	-	2	0	MUC16	8927912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.903000	0.00703	-3.430000	0.00165	-2.440000	0.00212	ACA	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	54	0	G	NM_024690		9066912	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	49.09	28	27	SNP	0.000	A	A	9066912	G	A	9066912	3	1	32	1	0	0	0	0	1	0	0	0	10011	1377	48	3	23317	3	MUC16	19	9066912	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	530661	9066912	50062071	192	7771											
UNC13A	23025	genome.wustl.edu	37	chr19	17766135	17766136	+	Missense_Mutation	DNP	GC	GC	TA																															cacgcagccagttggccttgGccctggacatggagtcctgc																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:17766135_17766136GC>TA	ENST00000519716.2	-	11	1338_1339	c.1339_1340GC>TA	c.(1339-1341)GCc>TAc	p.A447Y	UNC13A_ENST00000428389.2_Missense_Mutation_p.A535Y|UNC13A_ENST00000552293.1_Missense_Mutation_p.A447Y|UNC13A_ENST00000550896.1_Missense_Mutation_p.A447Y|UNC13A_ENST00000551649.1_Missense_Mutation_p.A447Y|UNC13A_ENST00000252773.7_Missense_Mutation_p.A447Y	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	447					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTGGCCTTGGCCCTGGACATG	0.639																																																	0																																										SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1339_1340delinsTA	19.37:g.17766135_17766136delinsTA	ENSP00000429562:p.Ala447Tyr		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.A535D|p.A535S	ENST00000519716.2	37	c.1604|c.1603	CCDS46013.2	19																																																																																			UNC13A	-	NULL	ENSG00000130477		0.639	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	39	0	G|C	XM_038604		17766135|17766136	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	29.17|30.43	34|32	14	SNP	1.000	T|A	TA	17766136	GC	TA	17766135	3	4	32	1	0	0	0	0	1	0	0	0	17033	1203	42	3	3899	3	UNC13A	19	17766135	Missense_Mutation	DNP	GC	TCGA-IG-A97H-01A-11D-A387-09	8699223	17766135	41362848	193	7772											
MAP3K10	4294	genome.wustl.edu	37	chr19	40718833	40718833	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaagaagggacgaacGtgggggcccagctccaccct	11	3	15	12	2	0	2	0	0	0	2	1	4	1	3	3	4	2	2	3	4	4	0	rs375485459		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:40718833G>T	ENST00000253055.3	+	7	1962	c.1674G>T	c.(1672-1674)acG>acT	p.T558T		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	558					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGGACGAACGTGGGGGCCCA	0.657																																																	0													34	37	36					19																	40718833		2202	4299	6501	SO:0001819	synonymous_variant	0			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1674G>T	19.37:g.40718833G>T			Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.T558	ENST00000253055.3	37	c.1674	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11	ENSG00000130758		0.657	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1		0	49	0	G	NM_002446		40718833	1			no_errors	ENST00000253055	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.765	T	T	40718833	G	T	40718833	2	4	32	1	0	0	0	0	0	0	0	1	9282	1132	40	2		2	MAP3K10	19	40718833	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	22952698	40718833	18410150	194	7773											
XRCC1	7515	genome.wustl.edu	37	chr19	44055806	44055806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcccaggcctaggacCtggctgtacttgggggtgtt	4	10	15	12	1	0	0	0	0	0	0	1	1	1	1	4	6	1	3	4	6	2	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:44055806C>T	ENST00000262887.5	-	10	1663	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Silent_p.Q341Q			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	372	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGCCTAGGACCTGGCTGTACT	0.632								Other BER factors																																									0													90	85	87					19																	44055806		2203	4300	6503	SO:0001819	synonymous_variant	0			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1116G>A	19.37:g.44055806C>T			Q6IBS4|Q9HCB1	Silent	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q372	ENST00000262887.5	37	c.1116	CCDS12624.1	19																																																																																			XRCC1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000073050		0.632	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	-	0	53	0	C	NM_006297		44055806	-1	tier1	-	no_errors	ENST00000262887	ensembl	human	known	74_37	silent	30.14	51	22	SNP	1.000	T	T	44055806	C	T	44055806	2	4	32	1	0	0	0	0	0	0	0	1	17501	680	24	3		3	XRCC1	19	44055806	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	3336973	44055806	15073177	195	7774											
PVRL2	5819	genome.wustl.edu	37	chr19	45381584	45381585	+	Intron	INS	-	-	T																															tggggggtccttggccttcaINStcctgctgagggtgaggagg																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:45381584_45381585insT	ENST00000252483.5	+	5	1042				PVRL2_ENST00000252485.4_Frame_Shift_Ins_p.I383fs	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTTGGCCTTCATCCTGCTgagg	0.678																																																	0																																										SO:0001627	intron_variant	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1042+3849->T	19.37:g.45381585_45381585dupT			A8K5L5|O75455|Q6IBI6|Q96J29	Frame_Shift_Ins	INS	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L384fs	ENST00000252483.5	37	c.1147_1148	CCDS42576.1	19																																																																																			PVRL2	-	NULL	ENSG00000130202		0.678	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1		0	38	0	-	NM_002856		45381585	1	tier1		no_errors	ENST00000252485	ensembl	human	known	74_37	frame_shift_ins	27.78	39	15	INS	0.997:1.000	T	T	45381585	-	T	45381584	6	5	32	0	1	1	1	0	0	0	0	0	12885	217	8	0		0	PVRL2	19	45381584	Intron	INS	-	TCGA-IG-A97H-01A-11D-A387-09	1325778	45381584	13747399	196	7775											
LIG1	3978	genome.wustl.edu	37	chr19	48665527	48665527	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgacatactttggaggGggctccgtctctctgctgct	4	13	12	12	1	2	1	0	1	2	0	4	2	3	2	2	3	3	3	2	3	1	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:48665527G>T	ENST00000263274.7	-	3	518	c.99C>A	c.(97-99)ccC>ccA	p.P33P	LIG1_ENST00000536218.1_Silent_p.P33P|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	33					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACTTTGGAGGGGGCTCCGTCT	0.458								Nucleotide excision repair (NER)																																									0													192	187	188					19																	48665527		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.99C>A	19.37:g.48665527G>T			B2RAI8|Q2TB12|Q32P23	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.P33	ENST00000263274.7	37	c.99	CCDS12711.1	19																																																																																			LIG1	-	NULL	ENSG00000105486		0.458	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	-	0	36	0	G	NM_000234		48665527	-1	tier1	-	no_errors	ENST00000263274	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.144	T	T	48665527	G	T	48665527	2	4	32	1	0	0	0	0	0	0	0	1	8810	1219	43	3		3	LIG1	19	48665527	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3283943	48665527	10463456	197	7776											
GRWD1	83743	genome.wustl.edu	37	chr19	48956267	48956267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcttcaccatcttccgCaccatcagcgtctgaggcgt	7	10	9	15	3	5	1	3	1	2	0	6	1	6	1	3	2	1	2	3	2	0	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:48956267C>T	ENST00000253237.5	+	7	1559	c.1326C>T	c.(1324-1326)cgC>cgT	p.R442R	KCNJ14_ENST00000342291.2_5'Flank	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	442						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CCATCTTCCGCACCATCAGCG	0.612																																																	0													36	40	39					19																	48956267		2203	4297	6500	SO:0001819	synonymous_variant	0			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.1326C>T	19.37:g.48956267C>T			Q8TF59	Silent	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R442	ENST00000253237.5	37	c.1326	CCDS12720.1	19																																																																																			GRWD1	-	NULL	ENSG00000105447		0.612	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRWD1	HGNC	protein_coding	OTTHUMT00000466122.1	-	0	19	0	C	NM_031485		48956267	1	tier1	-	no_errors	ENST00000253237	ensembl	human	known	74_37	silent	22.58	24	7	SNP	0.950	T	T	48956267	C	T	48956267	2	4	32	1	0	0	0	0	0	0	0	1	6838	697	25	3		3	GRWD1	19	48956267	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	290740	48956267	10172716	198	7777											
ZNF480	147657	genome.wustl.edu	37	chr19	52825798	52825798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttacaaatgtaatgaatGtggtaaagcatttagtgagt	14	13	10	4	0	0	2	0	2	0	0	0	2	0	2	1	1	2	3	1	1	7	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr19:52825798G>T	ENST00000595962.1	+	5	1361	c.1295G>T	c.(1294-1296)tGt>tTt	p.C432F	ZNF480_ENST00000334564.7_Missense_Mutation_p.C389F|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Missense_Mutation_p.C355F|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGTAATGAATGTGGTAAAGCA	0.373																																																	0													118	120	119					19																	52825798		2203	4300	6503	SO:0001583	missense	0			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1295G>T	19.37:g.52825798G>T	ENSP00000471754:p.Cys432Phe		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C432F	ENST00000595962.1	37	c.1295	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841223	0.51057	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	D;D;D	0.85861	-2.04;-2.04;-2.04	2.21	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94398	0.8198	H	0.97758	4.07	0.38033	D	0.935223	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.95603	0.8665	9	0.87932	D	0	.	11.5389	0.50655	0.0:0.0:1.0:0.0	.	389;432	F8WEZ9;Q8WV37	.;ZN480_HUMAN	F	432;389;355	ENSP00000417424:C432F;ENSP00000334164:C389F;ENSP00000335670:C355F	ENSP00000334164:C389F	C	+	2	0	ZNF480	57517610	1.000000	0.71417	0.020000	0.16555	0.039000	0.13416	2.894000	0.48640	1.225000	0.43566	0.461000	0.40582	TGT	ZNF480	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198464		0.373	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	-	0	52	0	G	NM_144684		52825798	1	tier1	-	no_errors	ENST00000468240	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	52825798	G	T	52825798	3	4	32	1	0	0	0	0	1	0	0	0	17983	1377	48	3	1309	3	ZNF480	19	52825798	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	3869531	52825798	6303185	199	7778											
SIRPG	55423	genome.wustl.edu	37	chr20	1615955	1615955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccttctggtggactgtgaCctctagggcaaggcgtttgc	5	12	14	10	1	2	1	0	1	2	0	3	2	3	2	2	4	1	2	2	4	2	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr20:1615955C>A	ENST00000303415.3	-	4	1103	c.1039G>T	c.(1039-1041)Gtc>Ttc	p.V347F	SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381583.2_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.V314F	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	347					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGGACTGTGACCTCTAGGGCA	0.468																																																	0													87	76	80					20																	1615955		2203	4300	6503	SO:0001583	missense	0			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15757	protein-coding gene	gene with protein product		605466	"signal-regulatory protein beta 2"	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.1039G>T	20.37:g.1615955C>A	ENSP00000305529:p.Val347Phe		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V347F	ENST00000303415.3	37	c.1039	CCDS13020.2	20	.	.	.	.	.	.	.	.	.	.	.	4.175	0.031131	0.08101	.	.	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.13538	3.0;2.58	1.6	-0.91	0.10511	.	1.968200	0.02332	N	0.074046	T	0.13372	0.0324	L	0.44542	1.39	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.32666	-0.9898	10	0.46703	T	0.11	.	5.7139	0.17950	0.5599:0.4401:0.0:0.0	.	347	Q9P1W8	SIRPG_HUMAN	F	314;347	ENSP00000370992:V314F;ENSP00000305529:V347F	ENSP00000305529:V347F	V	-	1	0	SIRPG	1563955	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.070000	0.11523	-0.215000	0.10063	0.195000	0.17529	GTC	SIRPG	-	smart_Ig_sub	ENSG00000089012		0.468	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	-	0	61	0	C	NM_018556		1615955	-1	tier1	-	no_errors	ENST00000303415	ensembl	human	known	74_37	missense	36.63	64	37	SNP	0.001	A	A	1615955	C	A	1615955	3	1	32	1	0	0	0	0	1	0	0	0	14381	507	18	3	132	3	SIRPG	20	1615955	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		1615955	61409565	200	7779											
GZF1	64412	genome.wustl.edu	37	chr20	23350227	23350227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctgcctcaggggagcGtccctactgctgtgaccagt	5	10	11	15	1	2	1	1	1	1	0	4	2	3	2	4	2	4	1	4	2	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr20:23350227G>T	ENST00000338121.5	+	5	1711	c.1634G>T	c.(1633-1635)cGt>cTt	p.R545L	GZF1_ENST00000544236.1_Missense_Mutation_p.R69L|GZF1_ENST00000377051.2_Missense_Mutation_p.R545L|GZF1_ENST00000542987.1_Missense_Mutation_p.R54L			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	545					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TCAGGGGAGCGTCCCTACTGC	0.572																																																	0													119	119	119					20																	23350227		2203	4300	6503	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1634G>T	20.37:g.23350227G>T	ENSP00000338290:p.Arg545Leu		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R545L	ENST00000338121.5	37	c.1634	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.662136	0.96734	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.94	5.94	0.96194	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.213738	0.31461	N	0.007601	T	0.46444	0.1393	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27262	-1.0079	10	0.87932	D	0	.	19.3398	0.94336	0.0:0.0:1.0:0.0	.	545	Q9H116	GZF1_HUMAN	L	69;545;54;545	ENSP00000445458:R69L;ENSP00000338290:R545L;ENSP00000445118:R54L;ENSP00000366250:R545L	ENSP00000338290:R545L	R	+	2	0	GZF1	23298227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.810000	0.99221	2.818000	0.97014	0.650000	0.86243	CGT	GZF1	-	pfscan_Znf_C2H2	ENSG00000125812		0.572	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1		0	25	0	G	NM_022482		23350227	1			no_errors	ENST00000338121	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	23350227	G	T	23350227	3	4	32	1	0	0	0	0	1	0	0	0	6941	1145	40	2	1648	2	GZF1	20	23350227	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	21734272	23350227	39675293	201	7780											
CBFA2T2	9139	genome.wustl.edu	37	chr20	32228152	32228152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcactttcttctagaagaaGctgtgaataaggtgaaaatt	14	13	9	5	0	3	4	1	2	2	2	3	4	3	4	0	1	1	1	0	1	7	5			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr20:32228152G>T	ENST00000346541.3	+	11	1867	c.1330G>T	c.(1330-1332)Gct>Tct	p.A444S	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.A444S|CBFA2T2_ENST00000543126.1_5'UTR|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.A415S|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.A435S|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.A415S|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.A454S	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	444					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCTAGAAGAAGCTGTGAATAA	0.463																																					Esophageal Squamous(174;142 1955 14837 21276 28041)												0													53	49	50					20																	32228152		2203	4300	6503	SO:0001583	missense	0			AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"Zinc fingers, MYND-type"	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1330G>T	20.37:g.32228152G>T	ENSP00000262653:p.Ala444Ser		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTGR1	p.A444S	ENST00000346541.3	37	c.1330	CCDS13221.1	20	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337492	0.81911	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.64;1.27	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.29908	0.895	0.80722	D	1	B;B	0.18310	0.016;0.027	B;B	0.17722	0.008;0.019	T	0.12734	-1.0536	10	0.40728	T	0.16	-21.536	20.1458	0.98076	0.0:0.0:1.0:0.0	.	444;435	O43439;F8W6D7	MTG8R_HUMAN;.	S	218;444;435;444;415;454	ENSP00000364428:A444S;ENSP00000345810:A435S;ENSP00000262653:A444S;ENSP00000380902:A415S;ENSP00000352622:A454S	ENSP00000345810:A435S	A	+	1	0	CBFA2T2	31691813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.825000	0.99386	2.765000	0.95021	0.643000	0.83706	GCT	CBFA2T2	-	NULL	ENSG00000078699		0.463	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	CBFA2T2	HGNC	protein_coding	OTTHUMT00000078708.2	-	0	40	0	G	NM_001032999		32228152	1	tier1	-	no_errors	ENST00000346541	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	32228152	G	T	32228152	3	4	32	1	0	0	0	0	1	0	0	0	2704	971	34	3	1406	3	CBFA2T2	20	32228152	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	8877925	32228152	30797368	202	7781											
ZFP64	55734	genome.wustl.edu	37	chr20	50701424	50701424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgacgtgcttggccaggCtgctgggccgcttcgtgtcg	2	11	16	12	5	0	0	0	0	0	0	3	1	0	0	2	3	2	4	2	3	0	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr20:50701424C>G	ENST00000361387.2	-	9	1670	c.1610G>C	c.(1609-1611)aGc>aCc	p.S537T	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.S318T	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTGGCCAGGCTGCTGGGCCG	0.657																																																	0													54	49	51					20																	50701424		2203	4300	6503	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1610G>C	20.37:g.50701424C>G	ENSP00000355179:p.Ser537Thr		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S537T	ENST00000361387.2	37	c.1610	CCDS13439.1	20	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169370	0.57584	.	.	ENSG00000020256	ENST00000371523;ENST00000361387	T;T	0.07114	3.22;3.22	4.4	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	L	0.51422	1.61	0.80722	D	1	D;D	0.56287	0.969;0.975	D;P	0.63381	0.914;0.778	T	0.23833	-1.0177	9	0.11794	T	0.64	.	4.037	0.09733	0.0:0.6778:0.0:0.3222	.	537;318	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	T	318;537	ENSP00000360578:S318T;ENSP00000355179:S537T	ENSP00000355179:S537T	S	-	2	0	ZFP64	50134831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.725000	0.61979	2.440000	0.82611	0.655000	0.94253	AGC	ZFP64	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000020256		0.657	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079743.2	-	0	25	0	C	NM_018197		50701424	-1	tier1	-	no_errors	ENST00000361387	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	G	G	50701424	C	G	50701424	3	3	32	1	0	0	0	0	1	0	0	0	17700	797	28	5	331	5	ZFP64	20	50701424	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	18473272	50701424	12324096	203	7782											
DIDO1	11083	genome.wustl.edu	37	chr20	61537402	61537402	+	Frame_Shift_Del	DEL	T	T	-																															gccttcttcactgtggtctcTtttttttctggagctggtct																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr20:61537402delT	ENST00000266070.4	-	6	1750	c.1425delA	c.(1423-1425)aaafs	p.K475fs	DIDO1_ENST00000370366.1_Frame_Shift_Del_p.K475fs|DIDO1_ENST00000266071.5_Frame_Shift_Del_p.K475fs|DIDO1_ENST00000395335.2_Frame_Shift_Del_p.K475fs|DIDO1_ENST00000370368.1_Frame_Shift_Del_p.K475fs|DIDO1_ENST00000395343.1_Frame_Shift_Del_p.K475fs|DIDO1_ENST00000370371.4_Frame_Shift_Del_p.K475fs|DIDO1_ENST00000395340.1_Frame_Shift_Del_p.K475fs|DIDO1_ENST00000354665.4_Frame_Shift_Del_p.K475fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	475					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTGGTCTCTTTTTTTTCTG	0.493																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													99	106	104					20																	61537402		2203	4300	6503	SO:0001589	frameshift_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1425delA	20.37:g.61537402delT	ENSP00000266070:p.Lys475fs		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Del	DEL	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E476fs	ENST00000266070.4	37	c.1425	CCDS33506.1	20																																																																																			DIDO1	-	NULL	ENSG00000101191		0.493	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2		0	34	0	T	NM_080796		61537402	-1	tier1		no_errors	ENST00000266070	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.986	-	-	61537402	T	-	61537402	7	5	32	1	0	1	0	1	0	0	0	0	4536	1606	56	0	5471	0	DIDO1	20	61537402	Frame_Shift_Del	DEL	T	TCGA-IG-A97H-01A-11D-A387-09	10835978	61537402	1488118	204	7783											
SAMSN1	64092	genome.wustl.edu	37	chr21	15882700	15882700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcactctggcacggccacaGaatggtcctgaataggggcc	9	7	13	12	1	1	2	0	1	1	1	2	2	2	2	3	5	1	2	3	5	3	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr21:15882700G>A	ENST00000400566.1	-	5	573	c.492C>T	c.(490-492)ttC>ttT	p.F164F	SAMSN1_ENST00000285670.2_Silent_p.F232F|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	164					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.F164F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CACGGCCACAGAATGGTCCTG	0.493																																																	1	Substitution - coding silent(1)	prostate(1)											132	130	131					21																	15882700		2157	4276	6433	SO:0001819	synonymous_variant	0			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	10528	protein-coding gene	gene with protein product	"nuclear localization signals, SAM and SH3 domain containing 1", "SAM and SH3 domain containing 2", "hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1", "Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.492C>T	21.37:g.15882700G>A			B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.F164	ENST00000400566.1	37	c.492	CCDS42906.1	21																																																																																			SAMSN1	-	pfam_rSAM/SH3_domain-containing,superfamily_SH3_domain	ENSG00000155307		0.493	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMSN1	HGNC	protein_coding	OTTHUMT00000157914.1	-	0	35	0	G			15882700	-1	tier1	-	no_errors	ENST00000400566	ensembl	human	known	74_37	silent	44.07	33	26	SNP	1.000	A	A	15882700	G	A	15882700	2	1	32	1	0	0	0	0	0	0	0	1	13875	933	33	3		3	SAMSN1	21	15882700	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09		15882700	32247195	205	7784											
KRTAP13-4	284827	genome.wustl.edu	37	chr21	31802694	31802694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcctggtctacagcactgCcctctgctctcccagcacct	6	9	7	19	0	3	0	0	0	3	0	4	0	3	0	4	1	6	3	4	1	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr21:31802694C>A	ENST00000334068.2	+	1	123	c.101C>A	c.(100-102)gCc>gAc	p.A34D		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	34						intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TACAGCACTGCCCTCTGCTCT	0.602																																					NSCLC(196;2401 3038 18004 35753)												0													83	84	83					21																	31802694		2203	4300	6503	SO:0001583	missense	0			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"Keratin associated proteins"	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.101C>A	21.37:g.31802694C>A	ENSP00000334834:p.Ala34Asp		A2RRL3	Missense_Mutation	SNP	pfam_KRTAP_PMG	p.A34D	ENST00000334068.2	37	c.101	CCDS13592.1	21	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.317414	0.00235	.	.	ENSG00000186971	ENST00000334068	T	0.03094	4.05	4.95	-4.4	0.03600	.	1.142630	0.06809	N	0.789989	T	0.00875	0.0029	N	0.00450	-1.49	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46091	-0.9216	10	0.02654	T	1	.	5.9408	0.19192	0.4936:0.2506:0.2559:0.0	.	34	Q3LI77	KR134_HUMAN	D	34	ENSP00000334834:A34D	ENSP00000334834:A34D	A	+	2	0	KRTAP13-4	30724565	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.313000	0.08103	-0.855000	0.04125	-1.106000	0.02097	GCC	KRTAP13-4	-	pfam_KRTAP_PMG	ENSG00000186971		0.602	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-4	HGNC	protein_coding	OTTHUMT00000128222.1	-	0	47	0	C			31802694	1	tier1	-	no_errors	ENST00000334068	ensembl	human	known	74_37	missense	31.51	50	23	SNP	0.004	A	A	31802694	C	A	31802694	3	1	32	1	0	0	0	0	1	0	0	0	8552	739	26	3	103	3	KRTAP13-4	21	31802694	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	15919994	31802694	16327201	206	7785											
SIK1	150094	genome.wustl.edu	37	chr21	44838214	44838214	+	Frame_Shift_Del	DEL	C	C	-																															gcagaacagctcctcccaagCccccctgagcctgcagcact																								rs372101645		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr21:44838214delC	ENST00000270162.6	-	12	1802	c.1670delG	c.(1669-1671)ggcfs	p.G557fs		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	557					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TCCTCCCAAGCCCCCCTGAGC	0.697																																																	0													30	32	32					21																	44838214		2201	4300	6501	SO:0001589	frameshift_variant	0			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1670delG	21.37:g.44838214delC	ENSP00000270162:p.Gly557fs		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G557fs	ENST00000270162.6	37	c.1670	CCDS33575.1	21																																																																																			SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000142178		0.697	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1		0	12	0	C	NM_173354		44838214	-1	tier1		no_errors	ENST00000270162	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.991	-	-	44838214	C	-	44838214	7	5	32	1	0	1	0	1	0	0	0	0	14362	739	26	0	693	0	SIK1	21	44838214	Frame_Shift_Del	DEL	C	TCGA-IG-A97H-01A-11D-A387-09	13035520	44838214	3291681	207	7786											
GNB1L	54584	genome.wustl.edu	37	chr22	19808147	19808147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggcgcccctggggcagCgtctgcagccaggtcacaca	7	5	14	15	2	2	0	1	0	1	0	2	0	2	0	3	4	4	3	3	4	0	0	rs368294430		TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr22:19808147C>T	ENST00000329517.6	-	4	464	c.228G>A	c.(226-228)acG>acA	p.T76T	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Silent_p.T76T|GNB1L_ENST00000403325.1_Silent_p.T76T	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	76					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CCTGGGGCAGCGTCTGCAGCC	0.652																																																	0								C		1,4405		0,1,2202	29	34	32		228	-4	0.1	22		32	1,8597		0,1,4298	no	coding-synonymous	GNB1L	NM_053004.2		0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154		76/328	19808147	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.228G>A	22.37:g.19808147C>T			Q9H2S2|Q9H4M4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T76	ENST00000329517.6	37	c.228	CCDS13768.1	22																																																																																			GNB1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000185838		0.652	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	-	0	93	0	C			19808147	-1	tier1	-	no_errors	ENST00000329517	ensembl	human	known	74_37	silent	27.72	73	28	SNP	0.311	T	T	19808147	C	T	19808147	2	4	32	1	0	0	0	0	0	0	0	1	6542	755	27	1		1	GNB1L	22	19808147	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		19808147	31496419	208	7787											
HPS4	89781	genome.wustl.edu	37	chr22	26860750	26860750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaccctttggatggtgCtgggctgaaccatcctggag	6	10	12	13	0	0	1	0	1	0	0	2	3	2	3	4	4	2	2	4	4	1	1			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr22:26860750C>T	ENST00000398145.2	-	11	1462	c.846G>A	c.(844-846)caG>caA	p.Q282Q	HPS4_ENST00000402105.3_Silent_p.Q277Q|HPS4_ENST00000336873.5_Silent_p.Q282Q|HPS4_ENST00000493455.2_5'Flank|HPS4_ENST00000398141.1_Silent_p.Q295Q	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	282					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGGATGGTGCTGGGCTGAAC	0.577									Hermansky-Pudlak syndrome																																								0													90	77	81					22																	26860750		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.846G>A	22.37:g.26860750C>T			B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	NULL	p.Q295	ENST00000398145.2	37	c.885	CCDS13835.1	22																																																																																			HPS4	-	NULL	ENSG00000100099		0.577	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	HGNC	protein_coding	OTTHUMT00000320778.1		0	13	0	C	NM_022081		26860750	-1			no_errors	ENST00000398141	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.000	T	T	26860750	C	T	26860750	2	4	32	1	0	0	0	0	0	0	0	1	7368	796	28	3		3	HPS4	22	26860750	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	7052603	26860750	24443816	209	7788											
SEC14L2	23541	genome.wustl.edu	37	chr22	30811775	30811775	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggttttactgaaacAtatcagccctgaccaggtgc	12	9	11	9	0	1	2	1	2	0	0	1	4	1	3	2	3	4	1	2	3	4	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr22:30811775A>G	ENST00000312932.9	+	9	952	c.692A>G	c.(691-693)cAt>cGt	p.H231R	SEC14L2_ENST00000405717.3_Missense_Mutation_p.H231R|SEC14L2_ENST00000403484.1_Missense_Mutation_p.H157R|SEC14L2_ENST00000402592.3_Missense_Mutation_p.H148R|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.H65R	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	231	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTACTGAAACATATCAGCCCT	0.502																																																	0													58	54	55					22																	30811775		2203	4300	6503	SO:0001583	missense	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.692A>G	22.37:g.30811775A>G	ENSP00000316203:p.His231Arg		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.H231R	ENST00000312932.9	37	c.692	CCDS13876.1	22	.	.	.	.	.	.	.	.	.	.	A	13.81	2.349603	0.41599	.	.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590	ENST00000312932;ENST00000428195;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.31	4.27	0.50696	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.307847	0.36932	N	0.002322	T	0.16769	0.0403	L	0.37697	1.125	0.80722	D	1	P;B;B;B;B;B	0.37466	0.596;0.057;0.029;0.269;0.003;0.176	B;B;B;B;B;B	0.24974	0.056;0.026;0.026;0.057;0.006;0.056	T	0.03423	-1.1038	10	0.38643	T	0.18	-0.0979	11.4972	0.50415	0.8656:0.0:0.0:0.1344	.	148;177;231;157;231;231	F5H3U4;B7Z3Z8;B2RAW8;B3KRD8;O76054;O76054-4	.;.;.;.;S14L2_HUMAN;.	R	231;177;157;231;148;65	ENSP00000316203:H231R;ENSP00000387781:H177R;ENSP00000383993:H157R;ENSP00000385186:H231R;ENSP00000383882:H148R;ENSP00000415178:H65R	ENSP00000415178:H65R	H	+	2	0	RP4-539M6.19;SEC14L2	29141775	0.901000	0.30685	0.429000	0.26710	0.989000	0.77384	6.822000	0.75277	1.019000	0.39547	0.528000	0.53228	CAT	SEC14L2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000100003		0.502	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	-	0	21	0	A	NM_012429		30811775	1	tier1	-	no_errors	ENST00000312932	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.872	G	G	30811775	A	G	30811775	3	3	32	1	0	0	0	0	1	0	0	0	14027	217	8	4	726	4	SEC14L2	22	30811775	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	3951025	30811775	20492791	210	7789											
TRIOBP	11078	genome.wustl.edu	37	chr22	38130534	38130534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtccccgctgccccccagGacatcagccaggacccctga	7	4	11	19	1	1	1	1	1	0	0	2	3	2	3	8	3	2	1	8	3	0	0			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chr22:38130534G>A	ENST00000406386.3	+	9	4446	c.4191G>A	c.(4189-4191)agG>agA	p.R1397R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1397					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCCCCCAGGACATCAGCCA	0.657																																																	0													14	16	16					22																	38130534		1848	4077	5925	SO:0001819	synonymous_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4191G>A	22.37:g.38130534G>A			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1397	ENST00000406386.3	37	c.4191	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.657	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0	66	0	G			38130534	1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	silent	22.55	79	23	SNP	0.597	A	A	38130534	G	A	38130534	2	1	32	1	0	0	0	0	0	0	0	1	16601	1165	41	3		3	TRIOBP	22	38130534	Silent	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	7318759	38130534	13174032	211	7790											
MED14	9282	genome.wustl.edu	37	chrX	40541948	40541948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaccacctttctaccacCaacaggctcagacaacagat	14	8	4	15	0	3	2	2	0	1	2	3	2	3	2	4	1	4	1	4	1	4	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:40541948C>A	ENST00000324817.1	-	18	2390	c.2272G>T	c.(2272-2274)Ggt>Tgt	p.G758C	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	758	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTTCTACCACCAACAGGCTCA	0.388																																																	0													83	61	69					X																	40541948		2203	4300	6503	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2272G>T	X.37:g.40541948C>A	ENSP00000323720:p.Gly758Cys		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.G758C	ENST00000324817.1	37	c.2272	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454439	0.84209	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.75686	0.3883	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77156	-0.2691	9	0.72032	D	0.01	.	18.9488	0.92632	0.0:1.0:0.0:0.0	.	758	O60244	MED14_HUMAN	C	758	.	ENSP00000323720:G758C	G	-	1	0	MED14	40426892	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.484000	0.81180	2.423000	0.82170	0.600000	0.82982	GGT	MED14	-	NULL	ENSG00000180182		0.388	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	-	0	28	0	C	NM_004229		40541948	-1	tier1	-	no_errors	ENST00000324817	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	A	A	40541948	C	A	40541948	3	1	32	1	0	0	0	0	1	0	0	0	9470	594	21	3	2148	3	MED14	23	40541948	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09		40541948	114728612	212	7791											
CCDC120	90060	genome.wustl.edu	37	chrX	48924907	48924908	+	Frame_Shift_Del	DEL	TG	TG	-																															cctgcccctctggctccctcTgcctctggccccccagtctg																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:48924907_48924908delTG	ENST00000376396.3	+	10	1371_1372	c.1152_1153delTG	c.(1150-1155)tctgccfs	p.A385fs	CCDC120_ENST00000597275.1_Frame_Shift_Del_p.A385fs|CCDC120_ENST00000536628.2_Frame_Shift_Del_p.A373fs|CCDC120_ENST00000603986.1_Frame_Shift_Del_p.A420fs|CCDC120_ENST00000422185.2_Frame_Shift_Del_p.A385fs|CCDC120_ENST00000496529.2_Frame_Shift_Del_p.A385fs	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	385	Pro-rich.									breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						TGGCTCCCTCTGCCTCTGGCCC	0.703																																																	0																																										SO:0001589	frameshift_variant	0			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1152_1153delTG	X.37:g.48924907_48924908delTG	ENSP00000365577:p.Ala385fs		B4DFC1|B4DTU2|F5GZU4	Frame_Shift_Del	DEL	pfam_DUF3338	p.A420fs	ENST00000376396.3	37	c.1257_1258	CCDS14316.1	X																																																																																			CCDC120	-	NULL	ENSG00000147144		0.703	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1		0	9	0	TG	NM_033626		48924908	1	tier1		no_errors	ENST00000603986	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	0.971:0.958	-	-	48924908	TG	-	48924907	7	5	32	1	0	1	0	1	0	0	0	0	2763	1567	55	0	1182	0	CCDC120	23	48924907	Frame_Shift_Del	DEL	TG	TCGA-IG-A97H-01A-11D-A387-09	8382959	48924907	106345653	213	7792											
CCNB3	85417	genome.wustl.edu	37	chrX	50090673	50090673	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcccgctacatctgcGagatgaccctgcaggaatac	9	9	9	14	2	1	2	0	1	1	1	2	4	2	3	3	1	4	2	3	1	3	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:50090673G>T	ENST00000376042.1	+	11	4157	c.3859G>T	c.(3859-3861)Gag>Tag	p.E1287*	CCNB3_ENST00000276014.7_Nonsense_Mutation_p.E1287*|CCNB3_ENST00000348603.2_Nonsense_Mutation_p.E183*|CCNB3_ENST00000376038.1_Nonsense_Mutation_p.E183*			Q8WWL7	CCNB3_HUMAN	cyclin B3	1287					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTACATCTGCGAGATGACCCT	0.493																																																	0													122	89	100					X																	50090673		2203	4300	6503	SO:0001587	stop_gained	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3859G>T	X.37:g.50090673G>T	ENSP00000365210:p.Glu1287*		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Nonsense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.E1287*	ENST00000376042.1	37	c.3859	CCDS14331.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.397260	0.96009	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	.	.	.	4.79	4.79	0.61399	.	0.169980	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9944	0.80230	0.0:0.0:1.0:0.0	.	.	.	.	X	1287;183;183;1287	.	.	E	+	1	0	CCNB3	50107413	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	8.055000	0.89453	2.112000	0.64535	0.508000	0.49915	GAG	CCNB3	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000147082		0.493	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	-	0	28	0	G			50090673	1	tier1	-	no_errors	ENST00000276014	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	1.000	T	T	50090673	G	T	50090673	4	4	32	1	0	0	0	0	0	1	0	0	2921	1059	37	2	3893	2	CCNB3	23	50090673	Nonsense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	1165766	50090673	105179887	214	7793											
DGKK	139189	genome.wustl.edu	37	chrX	50146073	50146073	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccgtagaattacaccAcaggcagcggaagtcttgaa	13	9	9	10	2	2	2	0	1	2	1	2	3	2	3	2	2	3	2	2	2	6	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:50146073A>G	ENST00000376025.2	-	0	1353							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAATTACACCACAGGCAGCGG	0.453																																																	0													62	56	58					X																	50146073		1968	4151	6119			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50146073A>G			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.453	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0	20	0	A	NM_001013742		50146073	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	64.29	10	18	SNP	1.000	G	G	50146073	A	G	50146073	1	3	32	0	1	0	0	0	0	0	0	0	4486	159	6	4		4	DGKK	23	50146073	RNA	SNP	A	TCGA-IG-A97H-01A-11D-A387-09	55400	50146073	105124487	215	7794											
PHKA1	5255	genome.wustl.edu	37	chrX	71800902	71800902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctgcacgtaggtggCggctgccttggagaggtagg	7	8	17	9	2	0	1	0	0	0	1	1	3	1	1	2	6	3	4	2	6	3	3			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:71800902C>T	ENST00000373542.4	-	32	3781	c.3622G>A	c.(3622-3624)Gcc>Acc	p.A1208T	PHKA1_ENST00000339490.3_Missense_Mutation_p.A1195T|PHKA1_ENST00000541944.1_Missense_Mutation_p.A1136T|PHKA1_ENST00000373539.3_Missense_Mutation_p.A1225T|PHKA1_ENST00000373545.3_Missense_Mutation_p.A1166T	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1208					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTAGGTGGCGGCTGCCTTG	0.572																																																	0													81	61	68					X																	71800902		2203	4300	6503	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3622G>A	X.37:g.71800902C>T	ENSP00000362643:p.Ala1208Thr		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.A1225T	ENST00000373542.4	37	c.3673	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579302	0.65878	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.94417	-3.42;-3.42;-3.42;-3.42;-3.42	4.96	4.07	0.47477	.	0.053497	0.85682	D	0.000000	D	0.95878	0.8658	M	0.73962	2.25	0.48341	D	0.999636	D;P;D;D	0.76494	0.999;0.93;0.962;0.998	P;B;P;P	0.61132	0.884;0.305;0.554;0.852	D	0.94377	0.7601	10	0.38643	T	0.18	-7.8055	11.4157	0.49951	0.1821:0.8179:0.0:0.0	.	1136;1166;1195;1208	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	T	1166;1208;1136;1195;1225	ENSP00000362646:A1166T;ENSP00000362643:A1208T;ENSP00000441251:A1136T;ENSP00000342469:A1195T;ENSP00000362640:A1225T	ENSP00000342469:A1195T	A	-	1	0	PHKA1	71717627	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.688000	0.68227	0.845000	0.35118	0.538000	0.68166	GCC	PHKA1	-	NULL	ENSG00000067177		0.572	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	-	0	45	0	C			71800902	-1	tier1	-	no_errors	ENST00000373539	ensembl	human	known	74_37	missense	57.38	26	35	SNP	1.000	T	T	71800902	C	T	71800902	3	4	32	1	0	0	0	0	1	0	0	0	11882	768	27	1	53	1	PHKA1	23	71800902	Missense_Mutation	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	21654829	71800902	83469658	216	7795											
ABCB7	22	genome.wustl.edu	37	chrX	74288930	74288930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaatgctacccttttgaGgctcatagaagcgaaataat	15	11	8	7	1	1	2	1	1	0	1	1	4	1	2	1	1	3	2	1	1	7	6			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:74288930G>T	ENST00000373394.3	-	12	1578	c.1571C>A	c.(1570-1572)cCt>cAt	p.P524H	ABCB7_ENST00000339447.4_Missense_Mutation_p.P484H|ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000253577.3_Missense_Mutation_p.P525H			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	524	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ACCCTTTTGAGGCTCATAGAA	0.408																																																	0													117	104	108					X																	74288930		2203	4300	6503	SO:0001583	missense	0			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"ATP binding cassette transporters / subfamily B"	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1571C>A	X.37:g.74288930G>T	ENSP00000362492:p.Pro524His		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P525H	ENST00000373394.3	37	c.1574		X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047621	0.75846	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61	5.24	5.24	0.73138	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.051031	0.85682	D	0.000000	D	0.97294	0.9115	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;0.998;0.999	D;D;D;D;D	0.79108	0.967;0.978;0.992;0.98;0.978	D	0.98025	1.0373	10	0.72032	D	0.01	-21.5621	16.8091	0.85713	0.0:0.0:1.0:0.0	.	498;484;525;524;525	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	H	498;525;484;524;498	ENSP00000253577:P525H;ENSP00000343849:P484H;ENSP00000362492:P524H;ENSP00000436586:P498H	ENSP00000253577:P525H	P	-	2	0	ABCB7	74205655	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.209000	0.95087	2.174000	0.68829	0.594000	0.82650	CCT	ABCB7	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000131269		0.408	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	-	0	34	0	G	NM_004299		74288930	-1	tier1	-	no_errors	ENST00000253577	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	74288930	G	T	74288930	3	4	32	1	0	0	0	0	1	0	0	0	46	1000	35	3	707	3	ABCB7	23	74288930	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	2488028	74288930	80981630	217	7796											
PABPC5	140886	genome.wustl.edu	37	chrX	90691327	90691327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagatatgagacacacgagGctgcccaaaaggctgtgcta	13	7	12	9	1	0	2	0	2	0	2	0	5	0	2	1	2	2	3	1	2	4	2			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:90691327G>A	ENST00000312600.3	+	2	965	c.751G>A	c.(751-753)Gct>Act	p.A251T	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.A87T	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	251	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GACACACGAGGCTGCCCAAAA	0.448																																																	0													75	74	75					X																	90691327		2203	4300	6503	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.751G>A	X.37:g.90691327G>A	ENSP00000308012:p.Ala251Thr		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.A251T	ENST00000312600.3	37	c.751	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873191	0.51695	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.16897	2.31;2.31	4.39	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.052999	0.64402	D	0.000001	T	0.36054	0.0953	L	0.55990	1.75	0.46279	D	0.998967	D	0.89917	1.0	D	0.91635	0.999	T	0.05402	-1.0887	10	0.59425	D	0.04	.	13.8602	0.63554	0.0:0.0:1.0:0.0	.	251	Q96DU9	PABP5_HUMAN	T	87;251;219	ENSP00000362197:A87T;ENSP00000308012:A251T	ENSP00000308012:A251T	A	+	1	0	PABPC5	90577983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.240000	0.95396	2.442000	0.82660	0.529000	0.55759	GCT	PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.448	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	-	0	31	0	G	NM_080832		90691327	1	tier1	-	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	A	A	90691327	G	A	90691327	3	1	32	1	0	0	0	0	1	0	0	0	11406	1203	42	3	753	3	PABPC5	23	90691327	Missense_Mutation	SNP	G	TCGA-IG-A97H-01A-11D-A387-09	16402397	90691327	64579233	218	7797											
MUM1L1	139221	genome.wustl.edu	37	chrX	105451396	105451396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgttgatgggttagattaCgaggcagctgaagcaaagta	12	10	14	5	1	0	3	0	2	0	1	0	4	0	3	0	2	3	7	0	2	5	4			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:105451396C>T	ENST00000357175.2	+	4	2620	c.1971C>T	c.(1969-1971)taC>taT	p.Y657Y	MUM1L1_ENST00000337685.2_Silent_p.Y657Y|MUM1L1_ENST00000372552.1_Silent_p.Y657Y	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	657						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTAGATTACGAGGCAGCTG	0.343													c|||	1	0.000264901	8e-04	0	3775	,	,		14202	0		0	False		,,,				2504	0																0																																										SO:0001819	synonymous_variant	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1971C>T	X.37:g.105451396C>T			D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	superfamily_PyrdxlP-dep_Trfase	p.Y657	ENST00000357175.2	37	c.1971	CCDS55469.1	X																																																																																			MUM1L1	-	NULL	ENSG00000157502		0.343	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	-	0	39	0	C	NM_152423		105451396	1	tier1	-	no_errors	ENST00000337685	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.278	T	T	105451396	C	T	105451396	2	4	32	1	0	0	0	0	0	0	0	1	10024	547	19	1		1	MUM1L1	23	105451396	Silent	SNP	C	TCGA-IG-A97H-01A-11D-A387-09	14760069	105451396	49819164	219	7798											
COL4A5	1287	genome.wustl.edu	37	chrX	107842050	107842050	+	Frame_Shift_Del	DEL	A	A	-																															ccctccaggcccagtaggtgAaaaaggcatacaaggtgtgg																										TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrX:107842050delA	ENST00000361603.2	+	25	2142	c.1898delA	c.(1897-1899)gaafs	p.E633fs	COL4A5_ENST00000328300.6_Frame_Shift_Del_p.E633fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	633	Triple-helical region.		E -> K (in APSX). {ECO:0000269|PubMed:10561141}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGTAGGTGAAAAAGGCATA	0.507									Alport syndrome with Diffuse Leiomyomatosis																																								0													74	77	76					X																	107842050		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1898delA	X.37:g.107842050delA	ENSP00000354505:p.Glu633fs		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G635fs	ENST00000361603.2	37	c.1898	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.507	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2		0	39	0	A			107842050	1	tier1		no_errors	ENST00000328300	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	107842050	A	-	107842050	7	5	32	1	0	1	0	1	0	0	0	0	3701	246	9	0	1996	0	COL4A5	23	107842050	Frame_Shift_Del	DEL	A	TCGA-IG-A97H-01A-11D-A387-09	2390654	107842050	47428510	220	7799											
EIF1AY	9086	genome.wustl.edu	37	chrY	22751375	22751375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattttacctttagctaaaAtcaatgaaacagacacattt	16	15	3	7	0	1	2	1	1	0	1	1	2	1	2	1	0	3	1	1	0	7	7			TCGA-IG-A97H-01A-11D-A387-09	TCGA-IG-A97H-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ae6c7f9a-afa5-4b92-948e-5a82ae1b45ba	8f6eec0f-94ae-4e36-8f6f-b912a0c0d428	g.chrY:22751375A>G	ENST00000361365.2	+	6	490	c.343A>G	c.(343-345)Atc>Gtc	p.I115V	EIF1AY_ENST00000464196.1_3'UTR|EIF1AY_ENST00000382772.3_Missense_Mutation_p.I98V	NM_004681.3	NP_004672.2	O14602	IF1AY_HUMAN	eukaryotic translation initiation factor 1A, Y-linked	115							translation initiation factor activity (GO:0003743)										TTTAGCTAAAATCAATGAAAC	0.378																																																	0													77	79	78					Y																	22751375		594	1934	2528	SO:0001583	missense	0			AF000987	CCDS14795.1, CCDS65368.1	Yq11.223	2013-09-20	2003-09-12		ENSG00000198692	ENSG00000198692			3252	protein-coding gene	gene with protein product		400014	"eukaryotic translation initiation factor 1A, Y chromosome"			9381176	Standard	NM_001278612		Approved		uc004fuk.3	O14602	OTTHUMG00000036544	ENST00000361365.2:c.343A>G	Y.37:g.22751375A>G	ENSP00000354722:p.Ile115Val		Q9BS77	Missense_Mutation	SNP	pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1,tigrfam_TIF_eIF-1A	p.I115V	ENST00000361365.2	37	c.343	CCDS14795.1	Y																																																																																			EIF1AY	-	superfamily_NA-bd_OB-fold	ENSG00000198692		0.378	EIF1AY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1AY	HGNC	protein_coding	OTTHUMT00000088877.1	-	0	23	0	A	NM_004681		22751375	1	tier1	-	no_errors	ENST00000361365	ensembl	human	known	74_37	missense	72.73	12	32	SNP	1.000	G	G	22751375	A	G	22751375	3	3	32	1	0	0	0	0	1	0	0	0	5007	101	4	4	365	4	EIF1AY	24	22751375	Missense_Mutation	SNP	A	TCGA-IG-A97H-01A-11D-A387-09		22751375	36622191	221	7800											
CPSF3L	54973	genome.wustl.edu	37	chr1	1249245	1249245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcttgtagtagtggttgGccttctcggtcagccccgtg	5	12	13	11	2	2	0	1	0	1	0	3	0	2	0	3	3	2	4	3	3	2	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:1249245G>A	ENST00000435064.1	-	9	906	c.824C>T	c.(823-825)gCc>gTc	p.A275V	CPSF3L_ENST00000545578.1_Missense_Mutation_p.A246V|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A174V|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A177V|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A253V|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A281V|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A17V	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	275					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GTAGTGGTTGGCCTTCTCGGT	0.567																																																	0													168	137	147					1																	1249245		2203	4300	6503	SO:0001583	missense	0			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.824C>T	1.37:g.1249245G>A	ENSP00000413493:p.Ala275Val		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.A281V	ENST00000435064.1	37	c.842	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	g	35	5.493466	0.96339	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694	T;T;T;T;T;T	0.49432	0.94;0.94;0.94;0.94;0.78;0.94	5.27	5.27	0.74061	Beta-Casp domain (1);	0.054776	0.64402	D	0.000001	T	0.74145	0.3678	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.80764	0.985;0.994;0.991;0.99;0.985;0.991	T	0.79492	-0.1781	10	0.87932	D	0	-42.1041	18.8792	0.92350	0.0:0.0:1.0:0.0	.	253;246;177;174;281;275	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	V	275;177;168;174;281;253;246;305	ENSP00000413493:A275V;ENSP00000404886:A174V;ENSP00000445001:A281V;ENSP00000392848:A253V;ENSP00000444672:A246V;ENSP00000411233:A305V	ENSP00000294579:A168V	A	-	2	0	CPSF3L	1239108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.283000	0.95860	2.454000	0.82982	0.639000	0.83563	GCC	CPSF3L	-	pfam_Beta_Casp	ENSG00000127054		0.567	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	-	0	57	0	G	NM_017871		1249245	-1	tier1	-	no_errors	ENST00000540437	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	A	A	1249245	G	A	1249245	3	1	33	1	0	0	0	0	1	0	0	0	3834	1203	42	3	1014	3	CPSF3L	1	1249245	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		1249245	248001376	1	7801											
PADI1	29943	genome.wustl.edu	37	chr1	17563814	17563814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccctcctggccaggtccgGtgggcggcagatggccaggg	4	6	17	14	2	0	1	0	0	0	1	3	1	3	1	5	7	0	1	5	7	0	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:17563814G>C	ENST00000375471.4	+	12	1411	c.1319G>C	c.(1318-1320)gGt>gCt	p.G440A	PADI1_ENST00000413717.2_5'UTR|PADI1_ENST00000536552.1_Intron|PADI1_ENST00000537499.1_5'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	440					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCCAGGTCCGGTGGGCGGCAG	0.647											OREG0013147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(80;414 1257 4580 27746 50832)												0													81	77	78					1																	17563814		2203	4300	6503	SO:0001583	missense	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1319G>C	1.37:g.17563814G>C	ENSP00000364620:p.Gly440Ala	89	A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.G440A	ENST00000375471.4	37	c.1319	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507126	0.12883	.	.	ENSG00000142623	ENST00000375471	T	0.23147	1.92	4.1	3.17	0.36434	Protein-arginine deiminase, C-terminal (1);	0.766622	0.12543	N	0.459712	T	0.24353	0.0590	M	0.77103	2.36	0.09310	N	0.999999	B	0.20368	0.044	B	0.19666	0.026	T	0.37526	-0.9702	10	0.13470	T	0.59	-1.8209	2.792	0.05391	0.1011:0.1853:0.522:0.1915	.	440	Q9ULC6	PADI1_HUMAN	A	440	ENSP00000364620:G440A	ENSP00000364620:G440A	G	+	2	0	PADI1	17436401	0.000000	0.05858	0.201000	0.23476	0.790000	0.44656	0.101000	0.15251	0.932000	0.37266	0.591000	0.81541	GGT	PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142623		0.647	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	-	0	49	0	G	NM_013358		17563814	1	tier1	-	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.004	C	C	17563814	G	C	17563814	3	2	33	1	0	0	0	0	1	0	0	0	11416	1261	44	5	1365	5	PADI1	1	17563814	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	16314569	17563814	231686807	2	7802											
ACTL8	81569	genome.wustl.edu	37	chr1	18152456	18152456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccggccaggatctctcCgcctatctcctcaagagtct	6	11	8	16	3	4	1	1	0	3	1	8	2	5	2	5	2	0	0	5	2	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:18152456C>T	ENST00000375406.1	+	3	759	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	181					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		AGGATCTCTCCGCCTATCTCC	0.592											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	30	29					1																	18152456		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.543C>T	1.37:g.18152456C>T		723	Q13104|Q96M75	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.S181	ENST00000375406.1	37	c.543	CCDS183.1	1																																																																																			ACTL8	-	pfam_Actin-related,smart_Actin-related	ENSG00000117148		0.592	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	HGNC	protein_coding	OTTHUMT00000007143.1		0	56	0	C	NM_030812		18152456	1			no_errors	ENST00000375406	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.000	T	T	18152456	C	T	18152456	2	4	33	1	0	0	0	0	0	0	0	1	202	639	23	1		1	ACTL8	1	18152456	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	588642	18152456	231098165	3	7803											
KDM1A	23028	genome.wustl.edu	37	chr1	23395626	23395626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaaactcaggaagaattGaaagaacttcttaataaggt	18	10	9	4	0	2	4	1	2	1	2	2	5	2	5	0	2	2	0	0	2	8	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:23395626G>A	ENST00000356634.3	+	10	1472	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.L465L|KDM1A_ENST00000542151.1_Silent_p.L465L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	441	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGAAGAATTGAAAGAACTTC	0.318																																																	0													55	55	55					1																	23395626		2203	4300	6503	SO:0001819	synonymous_variant	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1323G>A	1.37:g.23395626G>A			A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.L465	ENST00000356634.3	37	c.1395	CCDS30627.1	1																																																																																			KDM1A	-	pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease	ENSG00000004487		0.318	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	-	0	89	0	G	NM_015013		23395626	1	tier1	-	no_errors	ENST00000542151	ensembl	human	known	74_37	silent	30.56	50	22	SNP	1.000	A	A	23395626	G	A	23395626	2	1	33	1	0	0	0	0	0	0	0	1	8149	1281	45	3		3	KDM1A	1	23395626	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	5243170	23395626	225854995	4	7804											
EYA3	2140	genome.wustl.edu	37	chr1	28362085	28362085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagtccatacgtttgggttgCctgagggtagacagcatagg	9	11	14	7	1	0	2	0	1	0	1	1	2	1	2	2	3	3	4	2	3	4	6			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:28362085C>T	ENST00000373871.3	-	6	571	c.331G>A	c.(331-333)Gca>Aca	p.A111T	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.A111T|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.A58T|EYA3_ENST00000373863.3_Missense_Mutation_p.A111T|EYA3_ENST00000373864.1_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	111					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTTTGGGTTGCCTGAGGGTAG	0.433																																																	0													272	263	266					1																	28362085		2203	4300	6503	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.331G>A	1.37:g.28362085C>T	ENSP00000362978:p.Ala111Thr		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.A111T	ENST00000373871.3	37	c.331	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303674	0.23736	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D	0.91577	-2.87;-2.81;-2.85;-2.72	5.59	5.59	0.84812	.	0.207924	0.50627	D	0.000107	T	0.79953	0.4535	N	0.12182	0.205	0.80722	D	1	B;B;B	0.14012	0.003;0.009;0.001	B;B;B	0.12156	0.005;0.007;0.004	T	0.73563	-0.3943	10	0.14656	T	0.56	-21.8132	10.6664	0.45732	0.0:0.8835:0.0:0.1164	.	111;111;111	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	T	111;111;58;111	ENSP00000362978:A111T;ENSP00000442558:A111T;ENSP00000442280:A58T;ENSP00000362970:A111T	ENSP00000362970:A111T	A	-	1	0	EYA3	28234672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.942000	0.49018	2.627000	0.88993	0.655000	0.94253	GCA	EYA3	-	NULL	ENSG00000158161		0.433	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	-	0	97	0	C	NM_001990		28362085	-1	tier1	-	no_errors	ENST00000373871	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	28362085	C	T	28362085	3	4	33	1	0	0	0	0	1	0	0	0	5346	739	26	3	1442	3	EYA3	1	28362085	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	4966459	28362085	220888536	5	7805											
PTPRU	10076	genome.wustl.edu	37	chr1	29606106	29606106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctacctgttctccgtgCgggcccgcacaggcaaaggc	7	6	11	17	3	1	0	0	0	1	0	2	0	1	0	5	3	2	3	5	3	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:29606106C>T	ENST00000345512.3	+	10	1831	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PTPRU_ENST00000373779.3_Missense_Mutation_p.R568W|PTPRU_ENST00000356870.3_Missense_Mutation_p.R568W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R568W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R568W|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R568W	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	568	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTCTCCGTGCGGGCCCGCAC	0.622																																																	0													129	130	130					1																	29606106		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1702C>T	1.37:g.29606106C>T	ENSP00000334941:p.Arg568Trp		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R568W	ENST00000345512.3	37	c.1702	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749015	0.69533	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.16	3.03	0.35002	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.81004	0.4733	M	0.93550	3.43	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86656	0.1901	9	.	.	.	.	14.5597	0.68126	0.2772:0.7228:0.0:0.0	.	568;568;568;568;568	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	W	568	ENSP00000334941:R568W;ENSP00000362884:R568W;ENSP00000349333:R568W;ENSP00000314987:R568W;ENSP00000392332:R568W;ENSP00000432906:R568W	.	R	+	1	2	PTPRU	29478693	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	3.125000	0.50469	1.137000	0.42214	-0.332000	0.08345	CGG	PTPRU	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060656		0.622	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1		0	68	0	C			29606106	1			no_errors	ENST00000345512	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	29606106	C	T	29606106	3	4	33	1	0	0	0	0	1	0	0	0	12858	759	27	1	1740	1	PTPRU	1	29606106	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	1244021	29606106	219644515	6	7806											
TRIM62	55223	genome.wustl.edu	37	chr1	33612835	33612835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgccattggcgtggctCtggccagggctgaagtaaga	7	11	14	9	1	2	2	0	1	2	1	2	2	2	2	2	4	1	3	2	4	2	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:33612835C>T	ENST00000291416.5	-	5	1604	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	TRIM62_ENST00000543586.1_Silent_p.Q336Q	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TGGCGTGGCTCTGGCCAGGGC	0.572																																																	0													93	81	85					1																	33612835		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1371G>A	1.37:g.33612835C>T			B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q457	ENST00000291416.5	37	c.1371	CCDS376.1	1																																																																																			TRIM62	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000116525		0.572	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM62	HGNC	protein_coding	OTTHUMT00000011890.1	-	0	27	0	C	NM_018207		33612835	-1	tier1	-	no_errors	ENST00000291416	ensembl	human	known	74_37	silent	44.44	15	12	SNP	1.000	T	T	33612835	C	T	33612835	2	4	33	1	0	0	0	0	0	0	0	1	16585	912	32	3		3	TRIM62	1	33612835	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	4006729	33612835	215637786	7	7807											
CLSPN	63967	genome.wustl.edu	37	chr1	36214021	36214021	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaccttagaagctgagctGaccaaactggctcgaaatag	13	9	9	10	1	0	3	0	2	0	1	1	4	0	3	2	1	4	3	2	1	6	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:36214021G>C	ENST00000318121.3	-	13	2514	c.2457C>G	c.(2455-2457)gtC>gtG	p.V819V	CLSPN_ENST00000251195.5_Silent_p.V819V|CLSPN_ENST00000520551.1_Silent_p.V766V|CLSPN_ENST00000373220.3_Silent_p.V755V	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	819					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGCTGAGCTGACCAAACTGG	0.478																																																	0													130	132	132					1																	36214021		2203	4300	6503	SO:0001819	synonymous_variant	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"claspin homolog (Xenopus laevis)"			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2457C>G	1.37:g.36214021G>C			A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	NULL	p.V819	ENST00000318121.3	37	c.2457	CCDS396.1	1																																																																																			CLSPN	-	NULL	ENSG00000092853		0.478	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	-	0	49	0	G	NM_022111		36214021	-1	tier1	-	no_errors	ENST00000318121	ensembl	human	known	74_37	silent	20.00	36	9	SNP	1.000	C	C	36214021	G	C	36214021	2	2	33	1	0	0	0	0	0	0	0	1	3567	1277	45	5		5	CLSPN	1	36214021	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	2601186	36214021	213036600	8	7808											
TEKT2	27285	genome.wustl.edu	37	chr1	36552424	36552424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaaacatctcgctgaaggTtgaccccacacgtgtacctg	10	8	8	15	2	1	2	0	2	1	0	2	2	1	2	4	1	2	3	4	1	3	2	rs201956071		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:36552424T>C	ENST00000207457.3	+	5	735	c.608T>C	c.(607-609)gTt>gCt	p.V203A	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	203					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGCTGAAGGTTGACCCCACA	0.552																																																	0													157	132	141					1																	36552424		2203	4300	6503	SO:0001583	missense	0			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.608T>C	1.37:g.36552424T>C	ENSP00000207457:p.Val203Ala		A6NIS6|O60638	Missense_Mutation	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.V203A	ENST00000207457.3	37	c.608	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	T	0.365	-0.936978	0.02340	.	.	ENSG00000092850	ENST00000207457	T	0.02236	4.38	5.64	4.51	0.55191	.	0.498333	0.23375	N	0.048863	T	0.02807	0.0084	L	0.57536	1.79	0.39312	D	0.965094	B	0.32051	0.354	B	0.30105	0.111	T	0.34700	-0.9818	10	0.07175	T	0.84	.	11.2732	0.49150	0.0:0.0713:0.0:0.9287	.	203	Q9UIF3	TEKT2_HUMAN	A	203	ENSP00000207457:V203A	ENSP00000207457:V203A	V	+	2	0	TEKT2	36325011	1.000000	0.71417	0.024000	0.17045	0.128000	0.20619	3.745000	0.55119	0.974000	0.38366	0.460000	0.39030	GTT	TEKT2	-	pfam_Tektin	ENSG00000092850		0.552	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	-	0	40	0	T	NM_014466		36552424	1	tier1	-	no_errors	ENST00000207457	ensembl	human	known	74_37	missense	44.44	40	32	SNP	0.986	C	C	36552424	T	C	36552424	3	2	33	1	0	0	0	0	1	0	0	0	15800	1725	60	4	622	4	TEKT2	1	36552424	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	338403	36552424	212698197	9	7809											
HEYL	26508	genome.wustl.edu	37	chr1	40092733	40092733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaaggcgaatccggaCggggtctgcacggctgctgg	8	5	19	9	4	1	1	0	0	1	1	2	5	2	3	1	7	2	3	1	7	2	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:40092733C>T	ENST00000372852.3	-	5	752	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	HEYL_ENST00000535435.1_Missense_Mutation_p.V117I	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	145	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.V145I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGAATCCGGACGGGGTCTGCA	0.642																																																	1	Substitution - Missense(1)	endometrium(1)											51	49	49					1																	40092733		2203	4300	6503	SO:0001583	missense	0			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"Basic helix-loop-helix proteins"	4882	protein-coding gene	gene with protein product	"hairy/enhancer-of-split related with YRPW motif 3"	609034	"hairy/enhancer-of-split related with YRPW motif-like"			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.433G>A	1.37:g.40092733C>T	ENSP00000361943:p.Val145Ile		Q5TG99	Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.V145I	ENST00000372852.3	37	c.433	CCDS439.1	1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145727	0.21288	.	.	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.50548	0.74;0.74	5.02	3.99	0.46301	Orange subgroup (1);Orange (2);	0.181693	0.46758	D	0.000272	T	0.27349	0.0671	N	0.17594	0.5	0.26423	N	0.976071	B	0.24768	0.111	B	0.28465	0.09	T	0.06285	-1.0835	10	0.45353	T	0.12	-33.1038	3.1424	0.06460	0.0:0.5167:0.2953:0.188	.	145	Q9NQ87	HEYL_HUMAN	I	145;117	ENSP00000361943:V145I;ENSP00000439071:V117I	ENSP00000361943:V145I	V	-	1	0	HEYL	39865320	0.013000	0.17824	0.578000	0.28575	0.551000	0.35334	0.010000	0.13242	2.321000	0.78463	0.462000	0.41574	GTC	HEYL	-	pfam_Orange,smart_Orange_subgr,pfscan_Orange	ENSG00000163909		0.642	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEYL	HGNC	protein_coding	OTTHUMT00000001179.2	-	0	64	0	C	NM_014571		40092733	-1	tier1	-	no_errors	ENST00000372852	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.465	T	T	40092733	C	T	40092733	3	4	33	1	0	0	0	0	1	0	0	0	7107	536	19	1	557	1	HEYL	1	40092733	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	3540309	40092733	209157888	10	7810											
FPGT	8790	genome.wustl.edu	37	chr1	74670421	74670421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcgtttccttcataaGcccagcatagaaaagatgta	13	11	7	10	1	1	2	1	0	0	2	3	2	2	2	3	0	3	3	3	0	5	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:74670421G>T	ENST00000609362.1	+	4	727	c.690G>T	c.(688-690)aaG>aaT	p.K230N	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.K243N|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	230					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCCTTCATAAGCCCAGCATAG	0.393																																																	0													75	75	75					1																	74670421		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.690G>T	1.37:g.74670421G>T	ENSP00000476680:p.Lys230Asn		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.K243N	ENST00000609362.1	37	c.729	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964755	0.53507	.	.	ENSG00000254685	ENST00000370898	T	0.43294	0.95	5.57	3.71	0.42584	L-fucokinase (1);	.	.	.	.	T	0.53238	0.1784	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58109	-0.7694	8	.	.	.	.	9.1517	0.36967	0.2856:0.0:0.7144:0.0	.	230	O14772	FPGT_HUMAN	N	230	ENSP00000359935:K230N	.	K	+	3	2	TNNI3K	74443009	0.829000	0.29322	1.000000	0.80357	0.992000	0.81027	-0.028000	0.12350	0.717000	0.32145	0.591000	0.81541	AAG	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.393	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding			0	34	0	G			74670421	1			no_errors	ENST00000370898	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	74670421	G	T	74670421	3	4	33	1	0	0	0	0	1	0	0	0	6061	962	34	3	704	3	FPGT	1	74670421	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	34577688	74670421	174580200	11	7811											
GBP5	115362	genome.wustl.edu	37	chr1	89730518	89730518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctggcccatttgctggtCatagtgggcaatggcctttt	5	16	11	9	0	2	0	1	0	1	0	2	0	2	0	2	4	1	2	2	4	2	5	rs143883598		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:89730518C>T	ENST00000370459.3	-	7	1127	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Missense_Mutation_p.D334N			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	334						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATTTGCTGGTCATAGTGGGCA	0.557																																																	0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	99	87	91		1000,1000	3.1	1	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GBP5	NM_001134486.2,NM_052942.3	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	334/587,334/587	89730518	1,13005	2203	4300	6503	SO:0001583	missense	0			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1000G>A	1.37:g.89730518C>T	ENSP00000359488:p.Asp334Asn		B2RCE1|Q86TM5	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.D334N	ENST00000370459.3	37	c.1000	CCDS722.1	1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075618	0.36662	0.0	1.16E-4	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.01981	4.52;4.52;4.52	4.96	3.08	0.35506	Guanylate-binding protein, C-terminal (3);	0.421002	0.27912	N	0.017343	T	0.01835	0.0058	M	0.66939	2.045	0.29161	N	0.877763	B	0.30664	0.289	B	0.40477	0.33	T	0.31052	-0.9957	10	0.51188	T	0.08	-14.4697	9.482	0.38906	0.0:0.8269:0.0:0.1731	.	334	Q96PP8	GBP5_HUMAN	N	334	ENSP00000340396:D334N;ENSP00000359488:D334N;ENSP00000403010:D334N	ENSP00000340396:D334N	D	-	1	0	GBP5	89503106	0.994000	0.37717	0.998000	0.56505	0.004000	0.04260	1.182000	0.32029	0.810000	0.34279	-0.300000	0.09419	GAC	GBP5	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000154451		0.557	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	-	0	110	0	C	NM_052942		89730518	-1	tier1	rs143883598	no_errors	ENST00000343435	ensembl	human	known	74_37	missense	26.19	93	33	SNP	1.000	T	T	89730518	C	T	89730518	3	4	33	1	0	0	0	0	1	0	0	0	6302	826	29	3	780	3	GBP5	1	89730518	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	15060097	89730518	159520103	12	7812											
COL11A1	1301	genome.wustl.edu	37	chr1	103471858	103471858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccagggggaccctggAcgcctcgagggccctatatc	7	7	14	13	2	0	0	0	0	0	0	2	4	0	3	4	5	0	0	4	5	2	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:103471858A>G	ENST00000370096.3	-	16	2009	c.1697T>C	c.(1696-1698)gTc>gCc	p.V566A	COL11A1_ENST00000358392.2_Missense_Mutation_p.V578A|COL11A1_ENST00000512756.1_Missense_Mutation_p.V450A|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.V527A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	566	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGACCCTGGACGCCTCGAGG	0.388																																																	0													47	54	52					1																	103471858		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1697T>C	1.37:g.103471858A>G	ENSP00000359114:p.Val566Ala		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.V578A	ENST00000370096.3	37	c.1733	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	A	9.693	1.152315	0.21371	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.15	5.31	5.31	0.75309	.	0.224851	0.38959	N	0.001515	T	0.71230	0.3315	N	0.02876	-0.465	0.43868	D	0.996473	B;B;B;B	0.20164	0.042;0.034;0.034;0.042	B;B;B;B	0.25614	0.062;0.037;0.037;0.062	T	0.70077	-0.4971	10	0.05620	T	0.96	.	15.2753	0.73737	1.0:0.0:0.0:0.0	.	450;527;578;566	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	566;578;527;450	ENSP00000359114:V566A;ENSP00000351163:V578A;ENSP00000302551:V527A;ENSP00000426533:V450A	ENSP00000302551:V527A	V	-	2	0	COL11A1	103244446	0.988000	0.35896	1.000000	0.80357	0.972000	0.66771	4.357000	0.59436	2.010000	0.58986	0.460000	0.39030	GTC	COL11A1	-	pfam_Collagen	ENSG00000060718		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	65	0	A	NM_080630		103471858	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	29.63	38	16	SNP	0.999	G	G	103471858	A	G	103471858	3	3	33	1	0	0	0	0	1	0	0	0	3674	275	10	4	3931	4	COL11A1	1	103471858	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	13741340	103471858	145778763	13	7813											
SLC6A17	388662	genome.wustl.edu	37	chr1	110737278	110737278	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctccccgttctggtcCgtcatgttcttcttgatgct	2	15	8	16	3	4	1	1	1	3	0	6	1	6	1	5	1	1	3	5	1	0	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:110737278C>A	ENST00000331565.4	+	9	1862	c.1377C>A	c.(1375-1377)tcC>tcA	p.S459S	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	459					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.S459S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CGTTCTGGTCCGTCATGTTCT	0.607																																																	1	Substitution - coding silent(1)	endometrium(1)											170	120	137					1																	110737278		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1377C>A	1.37:g.110737278C>A			A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.S459	ENST00000331565.4	37	c.1377	CCDS30799.1	1																																																																																			SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000197106		0.607	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	-	0	17	0	C	XM_371280		110737278	1	tier1	-	no_errors	ENST00000331565	ensembl	human	known	74_37	silent	23.53	19	8	SNP	0.006	A	A	110737278	C	A	110737278	2	1	33	1	0	0	0	0	0	0	0	1	14725	639	23	2		2	SLC6A17	1	110737278	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	7265420	110737278	138513343	14	7814											
SLC16A4	9122	genome.wustl.edu	37	chr1	110925488	110925488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagagatgacatgatggatCcaatccaaccaatttgctct	14	10	8	9	0	1	3	0	2	1	1	3	6	3	4	3	1	2	1	3	1	4	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:110925488C>T	ENST00000369779.4	-	3	437	c.188G>A	c.(187-189)gGa>gAa	p.G63E	SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G63E|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000369781.4_Missense_Mutation_p.G63E|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000497687.1_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	63					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CATGATGGATCCAATCCAACC	0.413																																																	0													135	128	130					1																	110925488		2203	4300	6503	SO:0001583	missense	0			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.188G>A	1.37:g.110925488C>T	ENSP00000358794:p.Gly63Glu		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G63E	ENST00000369779.4	37	c.188	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832706	0.91036	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;T;T	0.81247	0.33;-1.47;0.33	4.55	4.55	0.56014	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88232	0.6381	M	0.85041	2.73	0.80722	D	1	P;D;D	0.89917	0.928;0.971;1.0	P;P;D	0.85130	0.838;0.853;0.997	D	0.86798	0.1990	10	0.33141	T	0.24	.	16.0535	0.80777	0.0:1.0:0.0:0.0	.	63;63;63	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	E	63	ENSP00000358794:G63E;ENSP00000432495:G63E;ENSP00000358796:G63E	ENSP00000358794:G63E	G	-	2	0	SLC16A4	110727011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	2.514000	0.84764	0.655000	0.94253	GGA	SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000168679		0.413	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	-	0	86	0	C	NM_004696		110925488	-1	tier1	-	no_errors	ENST00000369779	ensembl	human	known	74_37	missense	7.50	74	6	SNP	1.000	T	T	110925488	C	T	110925488	3	4	33	1	0	0	0	0	1	0	0	0	14455	855	30	3	1303	3	SLC16A4	1	110925488	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	188210	110925488	138325133	15	7815											
HORMAD1	84072	genome.wustl.edu	37	chr1	150671191	150671191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgactcttgactagaaGaatcaaagtgatggaggacc	14	8	11	8	0	2	5	1	3	1	2	2	7	2	7	1	2	0	1	1	2	4	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:150671191G>A	ENST00000361824.2	-	15	1229	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	HORMAD1_ENST00000368995.4_Missense_Mutation_p.S295F|GOLPH3L_ENST00000271732.3_5'Flank|HORMAD1_ENST00000368993.2_Missense_Mutation_p.S375F|GOLPH3L_ENST00000540514.1_5'Flank|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S368F|GOLPH3L_ENST00000479757.1_5'Flank	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	375					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGACTAGAAGAATCAAAGTG	0.328																																																	0													73	77	76					1																	150671191		2203	4299	6502	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"cancer/testis antigen 46"	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1124C>T	1.37:g.150671191G>A	ENSP00000355167:p.Ser375Phe		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.S375F	ENST00000361824.2	37	c.1124	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114225	0.20795	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.55588	0.51;1.0;1.12;1.01	4.98	0.573	0.17363	.	0.202100	0.34906	N	0.003581	T	0.13841	0.0335	L	0.29908	0.895	0.24623	N	0.993665	B;B;B	0.26258	0.046;0.145;0.009	B;B;B	0.22601	0.04;0.039;0.007	T	0.13522	-1.0506	10	0.41790	T	0.15	-4.8547	2.3898	0.04375	0.1587:0.2811:0.4155:0.1447	.	295;368;375	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	F	295;375;304;295;368;375	ENSP00000357991:S295F;ENSP00000357989:S375F;ENSP00000326489:S368F;ENSP00000355167:S375F	ENSP00000326489:S368F	S	-	2	0	HORMAD1	148937815	1.000000	0.71417	0.963000	0.40424	0.637000	0.38172	2.013000	0.40942	0.110000	0.17919	-0.519000	0.04390	TCT	HORMAD1	-	NULL	ENSG00000143452		0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	-	0	94	0	G	NM_032132		150671191	-1	tier1	-	no_errors	ENST00000361824	ensembl	human	known	74_37	missense	27.96	67	26	SNP	0.600	A	A	150671191	G	A	150671191	3	1	33	1	0	0	0	0	1	0	0	0	7313	942	33	3	64	3	HORMAD1	1	150671191	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	39745703	150671191	98579430	16	7816											
FLG	2312	genome.wustl.edu	37	chr1	152283278	152283278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtctgctgactgctGgtggcgggatccatgtcttt	4	13	15	9	1	2	1	0	1	2	0	3	3	3	3	1	4	3	3	1	4	0	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:152283278G>C	ENST00000368799.1	-	3	4119	c.4084C>G	c.(4084-4086)Cag>Gag	p.Q1362E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1362	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACTGCTGGTGGCGGGAT	0.542									Ichthyosis																																								0													385	364	371					1																	152283278		2203	4298	6501	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4084C>G	1.37:g.152283278G>C	ENSP00000357789:p.Gln1362Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.Q1362E	ENST00000368799.1	37	c.4084	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618893	0.28801	.	.	ENSG00000143631	ENST00000368799	T	0.00832	5.64	4.29	-8.58	0.00897	.	.	.	.	.	T	0.00241	0.0007	L	0.45137	1.4	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.50533	-0.8817	9	0.02654	T	1	.	12.1367	0.53974	0.0947:0.1357:0.6951:0.0746	.	1362	P20930	FILA_HUMAN	E	1362	ENSP00000357789:Q1362E	ENSP00000357789:Q1362E	Q	-	1	0	FLG	150549902	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.576000	0.00910	-2.245000	0.00705	-0.280000	0.10049	CAG	FLG	-	pfam_Filaggrin	ENSG00000143631		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	246	0	G	NM_002016		152283278	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	24.42	164	53	SNP	0.000	C	C	152283278	G	C	152283278	3	2	33	1	0	0	0	0	1	0	0	0	5944	1357	47	5	8105	5	FLG	1	152283278	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	1612087	152283278	96967343	17	7817											
NPR1	4881	genome.wustl.edu	37	chr1	153660146	153660146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagctcctgcgaatggCttcaccccctgtgcggggct	4	9	12	16	2	1	1	1	1	0	0	2	2	2	1	4	3	3	3	4	3	1	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:153660146C>T	ENST00000368680.3	+	14	2601	c.2129C>T	c.(2128-2130)gCt>gTt	p.A710V		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	710	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCGAATGGCTTCACCCCCT	0.602																																					Pancreas(141;1349 1870 15144 15830 40702)												0													98	94	96					1																	153660146		2203	4300	6503	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2129C>T	1.37:g.153660146C>T	ENSP00000357669:p.Ala710Val		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.A710V	ENST00000368680.3	37	c.2129	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872617	0.51695	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.82803	-1.65	4.09	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155161	0.42548	D	0.000687	T	0.69360	0.3102	L	0.35288	1.05	0.80722	D	1	B;B	0.27559	0.08;0.181	B;B	0.40329	0.158;0.326	T	0.68655	-0.5351	10	0.34782	T	0.22	.	9.4235	0.38565	0.2121:0.7879:0.0:0.0	.	189;710	B7Z4Y7;P16066	.;ANPRA_HUMAN	V	710;189	ENSP00000357669:A710V	ENSP00000357669:A710V	A	+	2	0	NPR1	151926770	0.971000	0.33674	0.998000	0.56505	0.891000	0.51852	2.405000	0.44548	2.287000	0.76781	0.455000	0.32223	GCT	NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000169418		0.602	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0	54	0	C	NM_000906		153660146	1	tier1	-	no_errors	ENST00000368680	ensembl	human	known	74_37	missense	30.51	40	18	SNP	0.985	T	T	153660146	C	T	153660146	3	4	33	1	0	0	0	0	1	0	0	0	10633	797	28	3	2183	3	NPR1	1	153660146	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	1376868	153660146	95590475	18	7818											
C1orf129	80133	genome.wustl.edu	37	chr1	170959002	170959002	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttctcttccaggtgtctAagatcgtggatgctatttac	9	16	8	8	1	2	1	0	0	2	1	5	2	3	2	1	2	2	1	1	2	4	6			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:170959002A>T	ENST00000367758.3	+	11	985	c.886A>T	c.(886-888)Aag>Tag	p.K296*	MROH9_ENST00000367759.4_Nonsense_Mutation_p.K296*	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	296																	CCAGGTGTCTAAGATCGTGGA	0.393																																																	0													182	170	174					1																	170959002		1868	4106	5974	SO:0001587	stop_gained	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.886A>T	1.37:g.170959002A>T	ENSP00000356732:p.Lys296*		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.K296*	ENST00000367758.3	37	c.886	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.244417	0.95272	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.29	2.79	0.32731	.	0.284096	0.30510	N	0.009476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2187	9.5061	0.39048	0.6579:0.3421:0.0:0.0	.	.	.	.	X	296	.	ENSP00000356732:K296X	K	+	1	0	C1orf129	169225626	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	1.861000	0.39438	0.818000	0.34468	0.383000	0.25322	AAG	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.393	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1	-	0	123	0	A	NM_025063		170959002	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	nonsense	21.51	73	20	SNP	0.993	T	T	170959002	A	T	170959002	4	4	33	1	0	0	0	0	0	1	0	0	2003	363	13	5	924	5	C1orf129	1	170959002	Nonsense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	17298856	170959002	78291619	19	7819											
KIF21B	23046	genome.wustl.edu	37	chr1	200967542	200967542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacacggtcgcgctccaGctgtgtgtctcggatcttgt	5	11	12	13	4	2	0	0	0	2	0	5	1	3	1	1	2	2	3	1	2	0	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:200967542G>A	ENST00000422435.2	-	14	2363	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	KIF21B_ENST00000360529.5_Silent_p.L683L|KIF21B_ENST00000332129.2_Silent_p.L683L|KIF21B_ENST00000461742.2_Silent_p.L683L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	683					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCGCGCTCCAGCTGTGTGTCT	0.602																																																	0													100	104	103					1																	200967542		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2047C>T	1.37:g.200967542G>A			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.L683	ENST00000422435.2	37	c.2047	CCDS58056.1	1																																																																																			KIF21B	-	NULL	ENSG00000116852		0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0	69	0	G	XM_371332		200967542	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	silent	8.06	57	5	SNP	1.000	A	A	200967542	G	A	200967542	2	1	33	1	0	0	0	0	0	0	0	1	8316	962	34	3		3	KIF21B	1	200967542	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	30008540	200967542	48283079	20	7820											
TSNAX	7257	genome.wustl.edu	37	chr1	231665061	231665061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acataaccaaagaagagaagGgaaggatgttaattcatctt	18	9	9	5	0	2	2	1	0	1	2	2	5	2	4	1	2	1	1	1	2	6	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:231665061G>A	ENST00000366639.4	+	2	235	c.77G>A	c.(76-78)gGg>gAg	p.G26E	RP11-295G20.2_ENST00000416221.1_RNA|TSNAX-DISC1_ENST00000602962.1_Missense_Mutation_p.G26E|RP11-295G20.2_ENST00000440665.1_RNA|RP11-295G20.2_ENST00000425412.1_RNA|TSNAX_ENST00000602825.1_3'UTR|RP11-295G20.2_ENST00000450783.1_RNA|RP11-295G20.2_ENST00000454631.1_RNA	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AGAAGAGAAGGGAAGGATGTT	0.388																																																	0													178	164	169					1																	231665061		2203	4300	6503	SO:0001583	missense	0			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.77G>A	1.37:g.231665061G>A	ENSP00000355599:p.Gly26Glu		B1APC6	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.G26E	ENST00000366639.4	37	c.77	CCDS1596.1	1	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071285	0.20147	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.56	5.56	0.83823	Translin, N-terminal (1);	0.200266	0.42964	D	0.000627	T	0.21962	0.0529	N	0.04880	-0.145	0.34231	D	0.676481	B	0.02656	0.0	B	0.04013	0.001	T	0.22906	-1.0203	9	0.02654	T	1	.	10.5211	0.44920	0.0887:0.0:0.9113:0.0	.	26	Q99598	TSNAX_HUMAN	E	26	.	ENSP00000355599:G26E	G	+	2	0	TSNAX	229731684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.313000	0.59160	2.622000	0.88805	0.655000	0.94253	GGG	TSNAX	-	NULL	ENSG00000116918		0.388	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	HGNC	protein_coding	OTTHUMT00000095267.2		0	49	0	G	NM_005999		231665061	1			no_errors	ENST00000366639	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	231665061	G	A	231665061	3	1	33	1	0	0	0	0	1	0	0	0	16679	1232	43	3	83	3	TSNAX	1	231665061	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	30697519	231665061	17585560	21	7821											
CHML	1122	genome.wustl.edu	37	chr1	241797239	241797239	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtcttctggatttggAggtggagggcagaattcttc	9	14	13	5	0	3	1	0	0	3	1	4	4	3	4	0	5	0	1	0	5	2	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:241797239A>G	ENST00000366553.1	-	1	1993	c.1830T>C	c.(1828-1830)ccT>ccC	p.P610P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	610					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTGGATTTGGAGGTGGAGGGC	0.468																																																	0													133	134	134					1																	241797239		2203	4299	6502	SO:0001819	synonymous_variant	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1830T>C	1.37:g.241797239A>G			B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.P610	ENST00000366553.1	37	c.1830	CCDS31073.1	1																																																																																			CHML	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort	ENSG00000203668		0.468	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1		0	87	0	A	NM_001821		241797239	-1			no_errors	ENST00000366553	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	G	G	241797239	A	G	241797239	2	3	33	1	0	0	0	0	0	0	0	1	3358	291	11	4		4	CHML	1	241797239	Silent	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	10132178	241797239	7453382	22	7822											
NCOA1	8648	genome.wustl.edu	37	chr2	24888748	24888748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagattttgaagaaaacaGtcgatcagatacagctaatg	17	9	9	6	1	1	4	1	1	0	3	2	5	1	4	0	0	3	2	0	0	6	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:24888748G>A	ENST00000406961.1	+	6	872	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	NCOA1_ENST00000395856.3_Missense_Mutation_p.V74I|NCOA1_ENST00000538539.1_Missense_Mutation_p.V74I|NCOA1_ENST00000405141.1_Missense_Mutation_p.V74I|NCOA1_ENST00000348332.3_Missense_Mutation_p.V74I|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000288599.5_Missense_Mutation_p.V74I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	74	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGAAAACAGTCGATCAGAT	0.333			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													122	125	124					2																	24888748		2203	4300	6503	SO:0001583	missense	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.220G>A	2.37:g.24888748G>A	ENSP00000385216:p.Val74Ile		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.V74I	ENST00000406961.1	37	c.220	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812102	0.70797	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	4.9	4.9	0.64082	Helix-loop-helix DNA-binding (4);	0.064398	0.64402	D	0.000008	D	0.96078	0.8722	L	0.50333	1.59	0.58432	D	0.999996	P;P;B	0.52842	0.879;0.956;0.017	P;P;B	0.51016	0.488;0.656;0.069	D	0.94620	0.7812	10	0.39692	T	0.17	.	11.6931	0.51527	0.0821:0.0:0.9179:0.0	.	74;74;74	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	I	74	ENSP00000385216:V74I;ENSP00000385097:V74I;ENSP00000444039:V74I;ENSP00000320940:V74I;ENSP00000288599:V74I;ENSP00000379197:V74I	ENSP00000288599:V74I	V	+	1	0	NCOA1	24742252	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.683000	0.84093	2.689000	0.91719	0.655000	0.94253	GTC	NCOA1	-	superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom	ENSG00000084676		0.333	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	-	0	33	0	G	NM_147223		24888748	1	tier1	-	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	24888748	G	A	24888748	3	1	33	1	0	0	0	0	1	0	0	0	10267	1029	36	3	226	3	NCOA1	2	24888748	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		24888748	218310625	23	7823											
TMEM178	130733	genome.wustl.edu	37	chr2	39893219	39893219	+	Frame_Shift_Del	DEL	C	C	-																															gaccactggtacgagaccgaCccccggcgccacaaggagag																										TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:39893219delC	ENST00000281961.2	+	1	161	c.105delC	c.(103-105)gacfs	p.D35fs	TMEM178A_ENST00000482239.1_Intron|AC007246.3_ENST00000415640.1_RNA	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	35						integral component of membrane (GO:0016021)											ACGAGACCGACCCCCGGCGCC	0.736																																																	0													8	10	9					2																	39893219		1963	4124	6087	SO:0001589	frameshift_variant	0			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"transmembrane protein 178"	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.105delC	2.37:g.39893219delC	ENSP00000281961:p.Asp35fs		Q6UWI6|Q8N6N4	Frame_Shift_Del	DEL	NULL	p.R37fs	ENST00000281961.2	37	c.105	CCDS1804.1	2																																																																																			TMEM178A	-	NULL	ENSG00000152154		0.736	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM178A	HGNC	protein_coding	OTTHUMT00000250445.2		0	12	0	C	NM_152390		39893219	1			no_errors	ENST00000281961	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	0	-	39893219	C	-	39893219	7	5	33	1	0	1	0	1	0	0	0	0	16142	506	18	0	107	0	TMEM178	2	39893219	Frame_Shift_Del	DEL	C	TCGA-IG-A97I-01A-11D-A387-09	15004471	39893219	203306154	24	7824											
PREPL	9581	genome.wustl.edu	37	chr2	44559648	44559648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actagtctttgtgattgggtCttcatgcccagtttcctcaa	7	16	8	10	0	4	1	2	1	2	0	5	1	5	1	2	1	1	1	2	1	2	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:44559648C>T	ENST00000409936.1	-	9	1740	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	PREPL_ENST00000378520.3_Intron|PREPL_ENST00000409957.1_Missense_Mutation_p.D346N|PREPL_ENST00000409272.1_Missense_Mutation_p.D435N|PREPL_ENST00000410081.1_Missense_Mutation_p.D435N|PREPL_ENST00000541738.1_Missense_Mutation_p.D346N|PREPL_ENST00000409411.1_Missense_Mutation_p.D346N|PREPL_ENST00000260648.6_Missense_Mutation_p.D435N|PREPL_ENST00000378511.3_Missense_Mutation_p.D373N	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	435						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTGATTGGGTCTTCATGCCCA	0.423																																																	0													162	143	149					2																	44559648		2203	4300	6503	SO:0001583	missense	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1303G>A	2.37:g.44559648C>T	ENSP00000386543:p.Asp435Asn		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.D435N	ENST00000409936.1	37	c.1303	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843472	0.51057	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378511	.	.	.	5.55	5.55	0.83447	.	0.772477	0.12498	N	0.463637	T	0.50411	0.1614	N	0.08118	0	0.40676	D	0.982263	D;B	0.64830	0.994;0.033	D;B	0.63488	0.915;0.04	T	0.36720	-0.9736	9	0.02654	T	1	-18.3834	19.4923	0.95056	0.0:1.0:0.0:0.0	.	373;435	Q4J6C6-3;Q4J6C6	.;PPCEL_HUMAN	N	346;346;346;435;435;435;435;373	.	ENSP00000260648:D435N	D	-	1	0	PREPL	44413152	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.281000	0.58965	2.612000	0.88384	0.555000	0.69702	GAC	PREPL	-	NULL	ENSG00000138078		0.423	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	-	0	85	0	C	NM_006036		44559648	-1	tier1	-	no_errors	ENST00000260648	ensembl	human	known	74_37	missense	34.67	49	26	SNP	1.000	T	T	44559648	C	T	44559648	3	4	33	1	0	0	0	0	1	0	0	0	12517	913	32	3	908	3	PREPL	2	44559648	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	4666429	44559648	198639725	25	7825											
PSME4	23198	genome.wustl.edu	37	chr2	54119985	54119985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaacctctgattaaaccaGctataatttctgcaacacat	15	12	4	10	0	2	2	0	1	2	1	2	2	2	2	2	0	5	2	2	0	7	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:54119985G>A	ENST00000404125.1	-	36	4206	c.4151C>T	c.(4150-4152)gCt>gTt	p.A1384V	PSME4_ENST00000421748.2_Missense_Mutation_p.A528V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1384					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GATTAAACCAGCTATAATTTC	0.383																																																	0													112	110	110					2																	54119985		2203	4300	6503	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4151C>T	2.37:g.54119985G>A	ENSP00000384211:p.Ala1384Val		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.A1384V	ENST00000404125.1	37	c.4151	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	G	34	5.385450	0.95967	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66460	-0.21;-0.21	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.051665	0.85682	D	0.000000	D	0.83184	0.5199	M	0.84082	2.675	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.995	D;D;P	0.66716	0.946;0.933;0.849	D	0.85532	0.1210	10	0.72032	D	0.01	.	19.0749	0.93156	0.0:0.0:1.0:0.0	.	759;528;1384	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	V	528;1384	ENSP00000410830:A528V;ENSP00000384211:A1384V	ENSP00000384211:A1384V	A	-	2	0	PSME4	53973489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.527000	0.85204	0.555000	0.69702	GCT	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.383	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1		0	78	0	G	XM_040158		54119985	-1			no_errors	ENST00000404125	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	54119985	G	A	54119985	3	1	33	1	0	0	0	0	1	0	0	0	12751	971	34	3	1424	3	PSME4	2	54119985	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	9560337	54119985	189079388	26	7826											
XIRP2	129446	genome.wustl.edu	37	chr2	168104729	168104729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccttgaatccaatcaactTtaaccctgagaataatgtaa	15	12	5	9	0	1	2	1	2	0	1	3	3	3	2	3	0	2	1	3	0	7	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:168104729T>A	ENST00000409195.1	+	9	6916	c.6827T>A	c.(6826-6828)tTt>tAt	p.F2276Y	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2054Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2276Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2101					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAATCAACTTTAACCCTGAG	0.408																																																	0													69	66	67					2																	168104729		1893	4093	5986	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6827T>A	2.37:g.168104729T>A	ENSP00000386840:p.Phe2276Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.F2276Y	ENST00000409195.1	37	c.6827	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262515	0.39995	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.24350	1.86;1.86;1.86	6.17	-0.302	0.12796	.	1.005740	0.07990	N	0.987008	T	0.14874	0.0359	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18610	0.017;0.029;0.029	B;B;B	0.13407	0.004;0.009;0.009	T	0.34700	-0.9818	10	0.02654	T	1	8.0E-4	2.3465	0.04272	0.1267:0.1419:0.3942:0.3373	.	2101;2101;2054	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2276;2276;2054	ENSP00000386840:F2276Y;ENSP00000295237:F2276Y;ENSP00000387255:F2054Y	ENSP00000295237:F2276Y	F	+	2	0	XIRP2	167812975	0.000000	0.05858	0.099000	0.21106	0.990000	0.78478	0.404000	0.20999	-0.045000	0.13468	0.533000	0.62120	TTT	XIRP2	-	NULL	ENSG00000163092		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	41	0	T	NM_152381		168104729	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.065	A	A	168104729	T	A	168104729	3	1	33	1	0	0	0	0	1	0	0	0	17479	1841	64	5	6857	5	XIRP2	2	168104729	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	113984744	168104729	75094644	27	7827											
FKBP7	51661	genome.wustl.edu	37	chr2	179330499	179330499	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtagaaatacaaatatgctAtagttcatcgtgttggtata	15	14	8	4	1	1	1	1	0	0	1	2	1	1	1	0	1	2	5	0	1	9	9			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:179330499A>G	ENST00000424785.2	-	4	725	c.667T>C	c.(667-669)Tag>Cag	p.*223Q	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Nonstop_Mutation_p.*222Q	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	0					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CAAATATGCTATAGTTCATCG	0.308																																					Melanoma(26;682 927 5286 17599 46613)												0													82	79	80					2																	179330499		2203	4300	6503	SO:0001578	stop_lost	0			AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"EF-hand domain containing"	3723	protein-coding gene	gene with protein product		607062	"FK506-binding protein 7"			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.667T>C	2.37:g.179330499A>G	ENSP00000413152:p.*223Gluext*10		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Nonstop_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.*223Q	ENST00000424785.2	37	c.667	CCDS2280.1	2	.	.	.	.	.	.	.	.	.	.	A	31	5.067805	0.93950	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.23150	N	0.998216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3015	0.82820	1.0:0.0:0.0:0.0	.	.	.	.	Q	223;258;222	.	.	X	-	1	0	FKBP7	179038745	1.000000	0.71417	0.965000	0.40720	0.878000	0.50629	8.389000	0.90172	2.239000	0.73571	0.533000	0.62120	TAG	FKBP7	-	NULL	ENSG00000079150		0.308	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP7	HGNC	protein_coding	OTTHUMT00000255783.1	-	0	70	0	A	NM_181342		179330499	-1	tier1	-	no_errors	ENST00000424785	ensembl	human	known	74_37	nonstop	26.79	41	15	SNP	1.000	G	G	179330499	A	G	179330499	4	3	33	1	0	0	0	0	0	0	0	0	5935	462	16	4	5	4	FKBP7	2	179330499	Nonstop_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	11225770	179330499	63868874	28	7828											
TTN	7273	genome.wustl.edu	37	chr2	179580465	179580465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcatcctgtttcacaattCttgaaggttctagcttctta	9	18	5	9	0	5	1	2	1	3	0	6	1	6	1	1	1	1	3	1	1	4	8			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:179580465C>G	ENST00000591111.1	-	87	24949	c.24725G>C	c.(24724-24726)aGa>aCa	p.R8242T	TTN_ENST00000589042.1_Missense_Mutation_p.R8559T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7315T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12422	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACAATTCTTGAAGGTTC	0.393																																																	0													38	36	37					2																	179580465		1833	4085	5918	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24725G>C	2.37:g.179580465C>G	ENSP00000465570:p.Arg8242Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R7315T	ENST00000591111.1	37	c.21944		2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216036	0.39201	.	.	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48502	0.1503	N	0.17764	0.52	0.80722	D	1	P	0.45396	0.857	B	0.42188	0.379	T	0.54689	-0.8256	9	0.87932	D	0	.	10.9141	0.47126	0.0:0.8539:0.0:0.1461	.	8242	Q8WZ42	TITIN_HUMAN	T	7315	ENSP00000343764:R7315T	ENSP00000343764:R7315T	R	-	2	0	TTN	179288710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.538000	0.36094	2.637000	0.89404	0.655000	0.94253	AGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	32	0	C	NM_133378		179580465	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	G	G	179580465	C	G	179580465	3	3	33	1	0	0	0	0	1	0	0	0	16784	913	32	5	78949	5	TTN	2	179580465	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	249966	179580465	63618908	29	7829											
LANCL1	10314	genome.wustl.edu	37	chr2	211336800	211336800	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagaactcaggagtcaGctagatattaaaggaaaaca	17	9	10	5	0	2	2	2	1	0	2	2	5	2	4	0	2	3	1	0	2	7	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:211336800G>C	ENST00000443314.1	-	2	424	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V	LANCL1_ENST00000441020.3_Splice_Site_p.L28V|AC007970.1_ENST00000416344.1_RNA|LANCL1_ENST00000431941.2_Splice_Site_p.L28V|LANCL1_ENST00000233714.4_Splice_Site_p.L28V|LANCL1_ENST00000450366.2_Splice_Site_p.L28V			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	28					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCAGGAGTCAGCTAGATATTA	0.448																																																	0													92	88	90					2																	211336800		2203	4300	6503	SO:0001630	splice_region_variant	0			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.82-1C>G	2.37:g.211336800G>C				Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.L28V	ENST00000443314.1	37	c.82	CCDS2392.1	2	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320858	0.60634	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.02	4.15	0.48705	.	0.071524	0.56097	D	0.000031	T	0.54902	0.1887	L	0.54323	1.7	0.52501	D	0.999959	D	0.76494	0.999	D	0.79108	0.992	T	0.49224	-0.8962	10	0.21540	T	0.41	.	11.6993	0.51560	0.0821:0.0:0.9179:0.0	.	28	O43813	LANC1_HUMAN	V	28	ENSP00000388713:L28V;ENSP00000393323:L28V;ENSP00000393597:L28V;ENSP00000233714:L28V;ENSP00000397646:L28V;ENSP00000396518:L28V	ENSP00000233714:L28V	L	-	1	2	LANCL1	211045045	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	4.522000	0.60539	1.105000	0.41606	0.650000	0.86243	CTG	LANCL1	-	NULL	ENSG00000115365		0.448	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LANCL1	HGNC	protein_coding	OTTHUMT00000336817.1	-	0	80	0	G	NM_006055	Missense_Mutation	211336800	-1	tier1	-	no_errors	ENST00000233714	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	C	C	211336800	G	C	211336800	5	2	33	1	0	0	0	0	0	0	1	0	8648	985	34	5	1149	5	LANCL1	2	211336800	Splice_Site	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	31756335	211336800	31862573	30	7830											
PID1	55022	genome.wustl.edu	37	chr2	229890405	229890405	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggaggagctgttgctgtgGatccgcccgtcgctcttcat	4	12	13	12	4	2	0	1	0	1	0	5	3	3	3	2	3	2	4	2	3	0	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:229890405G>T	ENST00000354069.6	-	3	726	c.696C>A	c.(694-696)atC>atA	p.I232I	PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Silent_p.I230I|PID1_ENST00000409462.1_Silent_p.I150I|PID1_ENST00000392055.3_Silent_p.I199I			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	232	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTTGCTGTGGATCCGCCCGT	0.557																																																	0													98	95	96					2																	229890405		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.696C>A	2.37:g.229890405G>T			B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.I232	ENST00000354069.6	37	c.696		2																																																																																			PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.557	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0	37	0	G	NM_017933		229890405	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	silent	25.81	23	8	SNP	1.000	T	T	229890405	G	T	229890405	2	4	33	1	0	0	0	0	0	0	0	1	11921	1164	41	3		3	PID1	2	229890405	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	18553605	229890405	13308968	31	7831											
FAM116A	201627	genome.wustl.edu	37	chr3	57647252	57647252	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgaaaaaaatgaatataAggtagtttgctgatcaaaac	18	11	9	3	0	1	3	1	3	0	0	1	3	1	3	0	1	2	3	0	1	9	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:57647252A>T	ENST00000311128.5	-	6	610	c.540T>A	c.(538-540)ccT>ccA	p.P180P		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	180					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AATGAATATAAGGTAGTTTGC	0.303																																																	0													45	48	47					3																	57647252		2202	4296	6498	SO:0001819	synonymous_variant	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"DENN/MADD domain containing"	26635	protein-coding gene	gene with protein product			"family with sequence similarity 116, member A"	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.540T>A	3.37:g.57647252A>T			Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	p.P180	ENST00000311128.5	37	c.540	CCDS33773.1	3																																																																																			DENND6A	-	pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	ENSG00000174839		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	HGNC	protein_coding	OTTHUMT00000351594.1		0	49	0	A	NM_152678		57647252	-1			no_errors	ENST00000311128	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.815	T	T	57647252	A	T	57647252	2	4	33	1	0	0	0	0	0	0	0	1	5426	59	3	5		5	FAM116A	3	57647252	Silent	SNP	A	TCGA-IG-A97I-01A-11D-A387-09		57647252	140375178	32	7832											
ROBO2	6092	genome.wustl.edu	37	chr3	77671452	77671452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtctggagccttgatttCtgatttggaaacggatgttg	7	16	13	5	1	2	2	0	2	2	0	2	5	2	5	1	3	2	1	1	3	1	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:77671452C>G	ENST00000461745.1	+	23	4529	c.3629C>G	c.(3628-3630)tCt>tGt	p.S1210C	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1226C|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1210C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1210					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCTTGATTTCTGATTTGGAA	0.458																																																	0													122	122	122					3																	77671452		1911	4131	6042	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3629C>G	3.37:g.77671452C>G	ENSP00000417164:p.Ser1210Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1210C	ENST00000461745.1	37	c.3629	CCDS43109.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.699140|3.699140	0.68501|0.68501	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.68331	.|-0.15;-0.11;-0.32	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.41001	.|D	.|0.000970	T|T	0.79528|0.79528	0.4461|0.4461	L|L	0.50333|0.50333	1.59|1.59	.|0.30130	.|N	.|0.80488	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.85130	.|0.984;0.997;0.984	T|T	0.80621|0.80621	-0.1301|-0.1301	4|9	.|0.87932	.|D	.|0	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1226;1210;1210	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	L|C	41|1226;1226;1210;1210	.|ENSP00000417335:S1226C;ENSP00000417164:S1210C;ENSP00000327536:S1210C	.|ENSP00000327536:S1210C	F|S	+|+	3|2	2|0	ROBO2|ROBO2	77754142|77754142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.380000|0.380000	0.30137|0.30137	7.487000|7.487000	0.81328|0.81328	2.611000|2.611000	0.88343|0.88343	0.650000|0.650000	0.86243|0.86243	TTC|TCT	ROBO2	-	NULL	ENSG00000185008		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	79	0	C	XM_031246		77671452	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	G	G	77671452	C	G	77671452	3	3	33	1	0	0	0	0	1	0	0	0	13559	913	32	5	3721	5	ROBO2	3	77671452	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	20024200	77671452	120350978	33	7833											
TFG	10342	genome.wustl.edu	37	chr3	100432640	100432640	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attacttatgatgaattagtGctaatgatgcaacgagtttt	13	16	8	4	1	0	3	0	3	0	0	0	4	0	3	0	0	4	3	0	0	6	6			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:100432640G>T	ENST00000240851.4	+	2	451	c.111G>T	c.(109-111)gtG>gtT	p.V37V	TFG_ENST00000490574.1_Silent_p.V37V|TFG_ENST00000418917.2_Silent_p.V37V|TFG_ENST00000476228.1_Silent_p.V37V	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	37					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATGAATTAGTGCTAATGATGC	0.328			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	0													88	89	88					3																	100432640		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.111G>T	3.37:g.100432640G>T			D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.V37	ENST00000240851.4	37	c.111	CCDS2939.1	3																																																																																			TFG	-	pfam_OPR_PB1,smart_OPR_PB1	ENSG00000114354		0.328	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	-	0	80	0	G	NM_006070		100432640	1	tier1	-	no_errors	ENST00000240851	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	100432640	G	T	100432640	2	4	33	1	0	0	0	0	0	0	0	1	15853	1306	46	3		3	TFG	3	100432640	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	22761188	100432640	97589790	34	7834											
GSK3B	2932	genome.wustl.edu	37	chr3	119582439	119582439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caattgcctccggtggagttCggggtcggaagacctgcagt	7	9	15	10	3	0	1	0	0	0	1	3	3	1	3	3	5	2	2	3	5	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:119582439C>T	ENST00000264235.8	-	9	1905	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.R321Q	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CGGTGGAGTTCGGGGTCGGAA	0.423																																																	0													57	52	54					3																	119582439		2203	4300	6503	SO:0001583	missense	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.923G>A	3.37:g.119582439C>T	ENSP00000264235:p.Arg308Gln		D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R321Q	ENST00000264235.8	37	c.962	CCDS54628.1	3	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916643	0.92249	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.42513	0.97;0.97	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	N	0.21240	0.645	0.80722	D	1	D;D	0.56287	0.975;0.968	P;B	0.46299	0.511;0.377	T	0.36648	-0.9739	10	0.66056	D	0.02	-8.0903	18.9171	0.92510	0.0:1.0:0.0:0.0	.	308;321	P49841;P49841-2	GSK3B_HUMAN;.	Q	308;321;25	ENSP00000264235:R308Q;ENSP00000324806:R321Q	ENSP00000264235:R308Q	R	-	2	0	GSK3B	121065129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.771000	0.95319	0.650000	0.86243	CGA	GSK3B	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000082701		0.423	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	-	0	67	0	C			119582439	-1	tier1	-	no_errors	ENST00000316626	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	T	T	119582439	C	T	119582439	3	4	33	1	0	0	0	0	1	0	0	0	6851	884	31	1	351	1	GSK3B	3	119582439	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	19149799	119582439	78439991	35	7835											
PLXND1	23129	genome.wustl.edu	37	chr3	129325128	129325128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagttgtccgtgaggcGccgcgggtgctcgcacgagg	4	9	18	10	6	0	1	0	1	0	0	2	2	1	1	2	3	1	5	2	3	1	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:129325128G>A	ENST00000324093.4	-	1	533	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PLXND1_ENST00000393239.1_Missense_Mutation_p.R119C	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	119	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCCGTGAGGCGCCGCGGGTGC	0.711																																					Ovarian(97;366 1484 3738 22084 39045)												0													5	6	6					3																	129325128		2052	4047	6099	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.355C>T	3.37:g.129325128G>A	ENSP00000317128:p.Arg119Cys		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R119C	ENST00000324093.4	37	c.355	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	g	15.28	2.788049	0.49997	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11063	2.81;2.81	3.22	2.21	0.28008	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.761144	0.11692	U	0.538742	T	0.14356	0.0347	L	0.46157	1.445	0.37972	D	0.933313	D	0.65815	0.995	P	0.48901	0.594	T	0.22765	-1.0207	10	0.56958	D	0.05	.	9.2208	0.37375	0.0:0.1551:0.6906:0.1543	.	119	Q9Y4D7	PLXD1_HUMAN	C	119	ENSP00000317128:R119C;ENSP00000376931:R119C	ENSP00000317128:R119C	R	-	1	0	PLXND1	130807818	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	1.794000	0.38774	1.653000	0.50694	0.299000	0.19835	CGC	PLXND1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000004399		0.711	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	18	0	G	NM_015103		129325128	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.964	A	A	129325128	G	A	129325128	3	1	33	1	0	0	0	0	1	0	0	0	12166	1087	38	1	5566	1	PLXND1	3	129325128	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	9742689	129325128	68697302	36	7836											
RPL39L	116832	genome.wustl.edu	37	chr3	186838997	186838997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgattttactaccaGgtttcatctgaatccactgg	9	15	7	10	0	2	2	1	2	1	0	3	2	3	2	3	2	3	2	3	2	4	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:186838997G>T	ENST00000296277.4	-	3	494	c.92C>A	c.(91-93)cCt>cAt	p.P31H	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31H|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31H	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)	structural constituent of ribosome (GO:0003735)					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTTACTACCAGGTTTCATCTG	0.438																																																	0													111	110	111					3																	186838997		2203	4300	6503	SO:0001583	missense	0			BC012328	CCDS3286.1	3q27.3	2008-02-01	2002-01-15	2002-01-18	ENSG00000163923	ENSG00000163923		"L ribosomal proteins"	17094	protein-coding gene	gene with protein product		607547	"ribosomal protein L39-like 1"	RPL39L1			Standard	NM_052969		Approved		uc003fre.1	Q96EH5	OTTHUMG00000156465	ENST00000296277.4:c.92C>A	3.37:g.186838997G>T	ENSP00000296277:p.Pro31His		Q8IUD0	Missense_Mutation	SNP	pfam_Ribosomal_L39,superfamily_Ribosomal_L39e_dom	p.P31H	ENST00000296277.4	37	c.92	CCDS3286.1	3	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246856	0.22796	.	.	ENSG00000163923	ENST00000455270;ENST00000296277;ENST00000433055	.	.	.	2.13	1.24	0.21308	Ribosomal protein L39e domain (2);Ribosomal protein L39e, conserved site (1);	0.359519	0.18165	U	0.149654	T	0.28001	0.0690	.	.	.	0.23628	N	0.997259	P	0.43477	0.808	B	0.40940	0.344	T	0.13522	-1.0506	8	0.87932	D	0	-23.1447	6.767	0.23573	0.1601:0.0:0.8399:0.0	.	31	Q96EH5	RL39L_HUMAN	H	31	.	ENSP00000296277:P31H	P	-	2	0	RPL39L	188321691	1.000000	0.71417	0.829000	0.32907	0.342000	0.28953	5.535000	0.67173	0.445000	0.26639	-0.218000	0.12543	CCT	RPL39L	-	pfam_Ribosomal_L39,superfamily_Ribosomal_L39e_dom	ENSG00000163923		0.438	RPL39L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL39L	HGNC	protein_coding	OTTHUMT00000344283.2	-	0	44	0	G	NM_052969		186838997	-1	tier1	-	no_errors	ENST00000296277	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	186838997	G	T	186838997	3	4	33	1	0	0	0	0	1	0	0	0	13638	1000	35	3	67	3	RPL39L	3	186838997	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	57513869	186838997	11183433	37	7837											
ATP13A3	79572	genome.wustl.edu	37	chr3	194146182	194146182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtattttcataattttgtaTattatgttcatcaagttcgg	10	20	7	4	1	3	0	3	0	0	0	4	0	3	0	0	2	0	4	0	2	6	11			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:194146182T>C	ENST00000439040.1	-	30	3993	c.3202A>G	c.(3202-3204)Ata>Gta	p.I1068V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I1068V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1068						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAATTTTGTATATTATGTTCA	0.358																																																	0													86	83	84					3																	194146182		1816	4075	5891	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3202A>G	3.37:g.194146182T>C	ENSP00000416508:p.Ile1068Val		Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.I1068V	ENST00000439040.1	37	c.3202	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959657	0.34565	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.88431	-2.38;-2.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	N	0.20574	0.59	0.58432	D	0.999999	B	0.17038	0.02	B	0.22880	0.042	T	0.74822	-0.3534	10	0.07325	T	0.83	-0.8372	15.6399	0.76989	0.0:0.0:0.0:1.0	.	1068	Q9H7F0	AT133_HUMAN	V	1068	ENSP00000416508:I1068V;ENSP00000256031:I1068V	ENSP00000256031:I1068V	I	-	1	0	ATP13A3	195627471	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	5.829000	0.69316	2.094000	0.63399	0.482000	0.46254	ATA	ATP13A3	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000133657		0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	-	0	47	0	T	NM_024524		194146182	-1	tier1	-	no_errors	ENST00000256031	ensembl	human	known	74_37	missense	26.15	48	17	SNP	1.000	C	C	194146182	T	C	194146182	3	2	33	1	0	0	0	0	1	0	0	0	1126	1406	49	4	494	4	ATP13A3	3	194146182	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	7307185	194146182	3876248	38	7838											
GRXCR1	389207	genome.wustl.edu	37	chr4	42965095	42965095	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttagacgaacgatgccgaCgagtttctgaagctccttcc	10	10	10	11	4	1	2	0	1	1	1	3	6	3	2	3	0	3	3	3	0	3	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:42965095C>T	ENST00000399770.2	+	2	571	c.571C>T	c.(571-573)Cga>Tga	p.R191*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	191	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACGATGCCGACGAGTTTCTGA	0.428																																																	0													350	350	350					4																	42965095		1915	4124	6039	SO:0001587	stop_gained	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.571C>T	4.37:g.42965095C>T	ENSP00000382670:p.Arg191*			Nonsense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.R191*	ENST00000399770.2	37	c.571	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646267	0.67358	.	.	ENSG00000215203	ENST00000399770	.	.	.	6.07	4.13	0.48395	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-14.2846	13.3208	0.60432	0.3815:0.6185:0.0:0.0	.	.	.	.	X	191	.	ENSP00000382670:R191X	R	+	1	2	GRXCR1	42659852	0.973000	0.33851	0.862000	0.33874	0.238000	0.25445	2.413000	0.44618	1.515000	0.48885	0.655000	0.94253	CGA	GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000215203		0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	-	0	112	0	C	NM_001080476		42965095	1	tier1	-	no_errors	ENST00000399770	ensembl	human	known	74_37	nonsense	33.85	43	22	SNP	0.935	T	T	42965095	C	T	42965095	4	4	33	1	0	0	0	0	0	1	0	0	6839	528	19	1	577	1	GRXCR1	4	42965095	Nonsense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09		42965095	148189181	39	7839											
TMPRSS11B	132724	genome.wustl.edu	37	chr4	69096947	69096947	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcagtgagctgcagataaTagccacctgctgctgatcag	12	8	11	10	0	1	3	1	2	0	1	1	3	1	3	2	0	6	5	2	0	3	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:69096947T>C	ENST00000332644.5	-	7	821	c.660A>G	c.(658-660)ctA>ctG	p.L220L		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTGCAGATAATAGCCACCTGC	0.468																																																	0													58	59	59					4																	69096947		2203	4300	6503	SO:0001819	synonymous_variant	0			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"Serine peptidases / Transmembrane"	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.660A>G	4.37:g.69096947T>C			A8K4D9	Silent	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L220	ENST00000332644.5	37	c.660	CCDS3521.1	4																																																																																			TMPRSS11B	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000185873		0.468	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	HGNC	protein_coding	OTTHUMT00000251431.2	-	0	44	0	T	NM_182502		69096947	-1	tier1	-	no_errors	ENST00000332644	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.000	C	C	69096947	T	C	69096947	2	2	33	1	0	0	0	0	0	0	0	1	16287	1393	49	4		4	TMPRSS11B	4	69096947	Silent	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	26131852	69096947	122057329	40	7840											
PARM1	25849	genome.wustl.edu	37	chr4	75959102	75959102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccttcacaggcagcatcgCcgccattaccgtgacagtca	9	8	8	16	3	2	1	2	1	0	0	4	1	3	1	4	1	2	2	4	1	1	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:75959102C>T	ENST00000307428.7	+	3	991	c.779C>T	c.(778-780)gCc>gTc	p.A260V	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Missense_Mutation_p.A18V	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	260					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GGCAGCATCGCCGCCATTACC	0.507																																																	0													39	44	43					4																	75959102		2031	4186	6217	SO:0001583	missense	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.779C>T	4.37:g.75959102C>T	ENSP00000370224:p.Ala260Val		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.A260V	ENST00000307428.7	37	c.779	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951577	0.53186	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.32753	1.44;1.44	5.76	4.74	0.60224	.	0.113706	0.39274	N	0.001405	T	0.26629	0.0651	N	0.11560	0.145	0.38736	D	0.953783	D	0.59767	0.986	P	0.56474	0.799	T	0.03933	-1.0991	10	0.30854	T	0.27	-31.9578	10.5487	0.45074	0.0:0.8997:0.0:0.1003	.	260	Q6UWI2	PARM1_HUMAN	V	18;260	ENSP00000424276:A18V;ENSP00000370224:A260V	ENSP00000370224:A260V	A	+	2	0	PARM1	76178126	0.867000	0.29959	1.000000	0.80357	0.883000	0.51084	1.809000	0.38922	2.713000	0.92767	0.655000	0.94253	GCC	PARM1	-	NULL	ENSG00000169116		0.507	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	-	0	77	0	C	NM_015393		75959102	1	tier1	-	no_errors	ENST00000307428	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.966	T	T	75959102	C	T	75959102	3	4	33	1	0	0	0	0	1	0	0	0	11491	739	26	3	789	3	PARM1	4	75959102	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	6862155	75959102	115195174	41	7841											
PRDM8	56978	genome.wustl.edu	37	chr4	81123458	81123458	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctgctccccagcccAgagcctcagcagcggtagcg	8	4	12	17	2	1	1	1	0	0	1	2	1	2	1	4	1	8	5	4	1	1	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:81123458A>T	ENST00000504452.1	+	8	1681	c.842A>T	c.(841-843)cAg>cTg	p.Q281L	PRDM8_ENST00000339711.4_Missense_Mutation_p.Q281L|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q281L			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	281	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCCCCAGCCCAGAGCCTCAgc	0.721											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10	13	12					4																	81123458		1548	3604	5152	SO:0001583	missense	0			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.842A>T	4.37:g.81123458A>T	ENSP00000423985:p.Gln281Leu	1203	A8K7X2|Q6IQ36	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q281L	ENST00000504452.1	37	c.842	CCDS43243.1	4	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849078	0.51270	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.62788	-0.0;0.58;-0.0;-0.0	4.39	-0.295	0.12828	.	0.444366	0.16465	N	0.213245	T	0.34106	0.0886	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.13072	-1.0523	10	0.30078	T	0.28	.	5.644	0.17579	0.2371:0.513:0.2499:0.0	.	281	Q9NQV8	PRDM8_HUMAN	L	281	ENSP00000423985:Q281L;ENSP00000425149:Q281L;ENSP00000339764:Q281L;ENSP00000406998:Q281L	ENSP00000339764:Q281L	Q	+	2	0	PRDM8	81342482	0.044000	0.20184	0.008000	0.14137	0.745000	0.42441	0.082000	0.14847	-0.296000	0.08947	0.260000	0.18958	CAG	PRDM8	-	NULL	ENSG00000152784		0.721	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	-	0	12	0	A			81123458	1	tier1	-	no_errors	ENST00000339711	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.001	T	T	81123458	A	T	81123458	3	4	33	1	0	0	0	0	1	0	0	0	12504	188	7	5	852	5	PRDM8	4	81123458	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	5164356	81123458	110030818	42	7842											
CYP2U1	113612	genome.wustl.edu	37	chr4	108866175	108866175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagacaacaaaggaagttCtctcattcaactcttcgtca	13	11	7	10	1	5	1	3	0	2	1	7	3	5	2	0	2	2	1	0	2	4	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:108866175C>T	ENST00000332884.6	+	2	815	c.540C>T	c.(538-540)ttC>ttT	p.F180F	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_5'UTR	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	180					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AAAGGAAGTTCTCTCATTCAA	0.423																																																	0													140	135	136					4																	108866175		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.540C>T	4.37:g.108866175C>T			B2RMV7|Q96EQ6	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.F180	ENST00000332884.6	37	c.540	CCDS34047.1	4																																																																																			CYP2U1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000155016		0.423	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	-	0	84	0	C	NM_183075		108866175	1	tier1	-	no_errors	ENST00000332884	ensembl	human	known	74_37	silent	23.33	46	14	SNP	1.000	T	T	108866175	C	T	108866175	2	4	33	1	0	0	0	0	0	0	0	1	4184	912	32	3		3	CYP2U1	4	108866175	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	27742717	108866175	82288101	43	7843											
C4orf31	79625	genome.wustl.edu	37	chr4	121957628	121957628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatatctggtcctagacattGgttttgctctcttttcttct	5	21	6	9	0	4	1	0	0	4	1	6	1	5	1	1	2	1	2	1	2	3	9			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:121957628G>T	ENST00000379692.4	-	4	2024	c.1498C>A	c.(1498-1500)Caa>Aaa	p.Q500K	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	500	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCTAGACATTGGTTTTGCTCT	0.398																																																	0													166	149	155					4																	121957628		2203	4300	6503	SO:0001583	missense	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1498C>A	4.37:g.121957628G>T	ENSP00000369014:p.Gln500Lys		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.Q500K	ENST00000379692.4	37	c.1498	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155129	0.38021	.	.	ENSG00000173376	ENST00000379692	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	L	0.47716	1.5	0.80722	D	1	P	0.44195	0.828	P	0.49752	0.621	T	0.60535	-0.7244	9	0.29301	T	0.29	-28.3213	20.5568	0.99304	0.0:0.0:1.0:0.0	.	500	Q8TB73	NDNF_HUMAN	K	500	.	ENSP00000369014:Q500K	Q	-	1	0	NDNF	122177078	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.876000	0.87215	2.861000	0.98227	0.655000	0.94253	CAA	NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000173376		0.398	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	-	0	78	0	G	NM_024574		121957628	-1	tier1	-	no_errors	ENST00000379692	ensembl	human	known	74_37	missense	34.67	49	26	SNP	1.000	T	T	121957628	G	T	121957628	3	4	33	1	0	0	0	0	1	0	0	0	2268	1357	47	3	212	3	C4orf31	4	121957628	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	13091453	121957628	69196648	44	7844											
GRIA2	2891	genome.wustl.edu	37	chr4	158281060	158281060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcagagatctaaaattGcagtgtttgataaaatgtgg	13	13	10	5	0	1	2	0	1	1	1	2	3	2	2	1	1	2	3	1	1	4	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:158281060G>A	ENST00000264426.9	+	13	2335	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T	GRIA2_ENST00000449365.1_Missense_Mutation_p.A639T|GRIA2_ENST00000507898.1_Missense_Mutation_p.A639T|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.A686T|GRIA2_ENST00000393815.2_Missense_Mutation_p.A639T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	686					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A686S(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATCTAAAATTGCAGTGTTTGA	0.448																																																	2	Substitution - Missense(2)	lung(2)											53	54	54					4																	158281060		2203	4300	6503	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2056G>A	4.37:g.158281060G>A	ENSP00000264426:p.Ala686Thr		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A686T	ENST00000264426.9	37	c.2056	CCDS43274.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.108844|4.108844	0.77096|0.77096	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08;1.08|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Ionotropic glutamate receptor (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.12182|0.12182	0.205|0.205	0.58432|0.58432	D|D	0.999999|0.999999	D;B;D|.	0.76494|.	0.98;0.386;0.999|.	P;P;D|.	0.81914|.	0.799;0.464;0.995|.	T|T	0.42050|0.42050	-0.9474|-0.9474	10|5	0.87932|.	D|.	0|.	.|.	16.1021|16.1021	0.81178|0.81178	0.0:0.1336:0.8663:0.0|0.0:0.1336:0.8663:0.0	.|.	686;686;639|.	P42262;P42262-2;A8MT92|.	GRIA2_HUMAN;.;.|.	T|Y	639;639;686;686;639|16	ENSP00000426845:A639T;ENSP00000377403:A639T;ENSP00000296526:A686T;ENSP00000264426:A686T;ENSP00000389837:A639T|.	ENSP00000264426:A686T|.	A|C	+|+	1|2	0|0	GRIA2|GRIA2	158500510|158500510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.925000|7.925000	0.87563|0.87563	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCA|TGC	GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000120251		0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2		0	87	0	G			158281060	1			no_errors	ENST00000264426	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	158281060	G	A	158281060	3	1	33	1	0	0	0	0	1	0	0	0	6795	1319	46	3	2106	3	GRIA2	4	158281060	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	36323432	158281060	32873216	45	7845											
ZDHHC11	79844	genome.wustl.edu	37	chr5	840629	840629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggtagatgtggaagatGagcagctggcccaggtgcac	10	7	15	9	0	1	3	1	1	0	2	1	4	1	4	1	4	3	4	1	4	2	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:840629G>A	ENST00000283441.8	-	5	1148	c.765C>T	c.(763-765)ctC>ctT	p.L255L	ZDHHC11_ENST00000424784.2_Silent_p.L255L|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Silent_p.L42L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	255						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGTGGAAGATGAGCAGCTGGC	0.582																																																	0													115	118	117					5																	840629		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.765C>T	5.37:g.840629G>A			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L255	ENST00000283441.8	37	c.765	CCDS3857.1	5																																																																																			ZDHHC11	-	NULL	ENSG00000188818		0.582	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	-	0	91	0	G	NM_024786		840629	-1	tier1	-	no_errors	ENST00000283441	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.002	A	A	840629	G	A	840629	2	1	33	1	0	0	0	0	0	0	0	1	17649	1277	45	3		3	ZDHHC11	5	840629	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		840629	180074631	46	7846											
MARCH6	10299	genome.wustl.edu	37	chr5	10410318	10410318	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgccagcattactcGaacagggacacacgaggcag	11	8	11	11	2	1	0	0	0	1	0	2	3	1	1	1	2	4	2	1	2	2	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:10410318G>T	ENST00000274140.5	+	18	1753	c.1621G>T	c.(1621-1623)Gaa>Taa	p.E541*	MARCH6_ENST00000503788.1_Nonsense_Mutation_p.E436*|MARCH6_ENST00000510792.1_Nonsense_Mutation_p.E239*|MARCH6_ENST00000449913.2_Nonsense_Mutation_p.E493*	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	541					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGCATTACTCGAACAGGGACA	0.532																																																	0													144	126	132					5																	10410318		2203	4300	6503	SO:0001587	stop_gained	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1621G>T	5.37:g.10410318G>T	ENSP00000274140:p.Glu541*		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E541*	ENST00000274140.5	37	c.1621	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.543623	0.99201	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	.	.	.	5.7	4.82	0.62117	.	0.098931	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-22.4287	16.6475	0.85180	0.0:0.1301:0.8699:0.0	.	.	.	.	X	493;436;541;239	.	ENSP00000274140:E541X	E	+	1	0	MARCH6	10463318	1.000000	0.71417	0.055000	0.19348	0.964000	0.63967	9.465000	0.97660	1.378000	0.46305	0.655000	0.94253	GAA	MARCH6	-	NULL	ENSG00000145495		0.532	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	-	0	100	0	G	NM_005885		10410318	1	tier1	-	no_errors	ENST00000274140	ensembl	human	known	74_37	nonsense	40.26	46	31	SNP	1.000	T	T	10410318	G	T	10410318	4	4	33	1	0	0	0	0	0	1	0	0	9343	1059	37	2	1691	2	MARCH6	5	10410318	Nonsense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	9569689	10410318	170504942	47	7847											
DNAH5	1767	genome.wustl.edu	37	chr5	13737400	13737400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgagttaatttgaacttCtgtctcagcagaaatttcta	11	15	8	7	0	3	3	1	2	3	1	4	3	3	3	0	1	2	3	0	1	4	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:13737400C>G	ENST00000265104.4	-	66	11520	c.11416G>C	c.(11416-11418)Gaa>Caa	p.E3806Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3806					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTGAACTTCTGTCTCAGCA	0.438									Kartagener syndrome																																								0													142	143	143					5																	13737400		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11416G>C	5.37:g.13737400C>G	ENSP00000265104:p.Glu3806Gln		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3806Q	ENST00000265104.4	37	c.11416	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196220	0.78902	.	.	ENSG00000039139	ENST00000265104	T	0.54279	0.58	5.44	5.44	0.79542	.	0.052984	0.64402	D	0.000001	T	0.66489	0.2794	M	0.84511	2.7	0.80722	D	1	P	0.42584	0.784	P	0.44946	0.465	T	0.72704	-0.4213	10	0.62326	D	0.03	.	19.2675	0.93996	0.0:1.0:0.0:0.0	.	3806	Q8TE73	DYH5_HUMAN	Q	3806	ENSP00000265104:E3806Q	ENSP00000265104:E3806Q	E	-	1	0	DNAH5	13790400	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.995000	0.70631	2.573000	0.86826	0.655000	0.94253	GAA	DNAH5	-	NULL	ENSG00000039139		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	56	0	C	NM_001369		13737400	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	G	G	13737400	C	G	13737400	3	3	33	1	0	0	0	0	1	0	0	0	4618	922	32	5	2514	5	DNAH5	5	13737400	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	3327082	13737400	167177860	48	7848											
NIPBL	25836	genome.wustl.edu	37	chr5	36972125	36972125	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtatgctcccctgctggaAgtgaaggaactcctaaaggt	11	9	11	10	0	0	1	0	1	0	0	2	3	2	3	3	3	3	3	3	3	6	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:36972125A>T	ENST00000282516.8	+	8	1349	c.850A>T	c.(850-852)Agt>Tgt	p.S284C	NIPBL_ENST00000448238.2_Missense_Mutation_p.S284C|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	284					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCCTGCTGGAAGTGAAGGAAC	0.358																																																	0													70	67	68					5																	36972125		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.850A>T	5.37:g.36972125A>T	ENSP00000282516:p.Ser284Cys		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S284C	ENST00000282516.8	37	c.850	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541822	0.85917	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95518	-3.72;-3.73	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	L	0.27053	0.805	0.47949	D	0.999556	D;D	0.71674	0.997;0.998	P;P	0.62740	0.808;0.906	D	0.96176	0.9127	10	0.66056	D	0.02	.	15.8096	0.78547	1.0:0.0:0.0:0.0	.	284;284	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	284	ENSP00000282516:S284C;ENSP00000406266:S284C	ENSP00000282516:S284C	S	+	1	0	NIPBL	37007882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.645000	0.91049	2.127000	0.65507	0.533000	0.62120	AGT	NIPBL	-	NULL	ENSG00000164190		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	66	0	A	NM_015384		36972125	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	T	T	36972125	A	T	36972125	3	4	33	1	0	0	0	0	1	0	0	0	10467	72	3	5	876	5	NIPBL	5	36972125	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	23234725	36972125	143943135	49	7849											
HCN1	348980	genome.wustl.edu	37	chr5	45262772	45262772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcagggttgtcatttgagGataattgatgggagcgattg	10	14	14	3	1	2	2	2	2	0	0	2	5	2	4	0	3	1	1	0	3	1	6			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:45262772G>A	ENST00000303230.4	-	8	1981	c.1924C>T	c.(1924-1926)Cct>Tct	p.P642S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	642					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCATTTGAGGATAATTGATG	0.498																																																	0													193	175	181					5																	45262772		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1924C>T	5.37:g.45262772G>A	ENSP00000307342:p.Pro642Ser			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.P642S	ENST00000303230.4	37	c.1924	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	3.067	-0.191984	0.06299	.	.	ENSG00000164588	ENST00000303230	T	0.71934	-0.61	5.91	5.03	0.67393	.	0.215451	0.32190	N	0.006453	T	0.37433	0.1003	N	0.00841	-1.15	0.32487	N	0.5407	B	0.10296	0.003	B	0.04013	0.001	T	0.37174	-0.9717	10	0.07482	T	0.82	.	14.4959	0.67685	0.0696:0.0:0.9304:0.0	.	642	O60741	HCN1_HUMAN	S	642	ENSP00000307342:P642S	ENSP00000307342:P642S	P	-	1	0	HCN1	45298529	.	.	0.940000	0.37924	0.048000	0.14542	.	.	2.793000	0.96121	0.655000	0.94253	CCT	HCN1	-	NULL	ENSG00000164588		0.498	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	65	0	G	NM_021072		45262772	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.992	A	A	45262772	G	A	45262772	3	1	33	1	0	0	0	0	1	0	0	0	7023	1174	41	3	752	3	HCN1	5	45262772	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	8290647	45262772	135652488	50	7850											
PDE4D	5144	genome.wustl.edu	37	chr5	58271511	58271511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccacggaagcattgtgCttgtcacacatggggcttat	8	14	10	9	1	1	0	1	0	0	0	2	1	2	1	1	3	2	3	1	3	2	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:58271511C>T	ENST00000340635.6	-	14	2161	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	PDE4D_ENST00000502484.2_Silent_p.K601K|PDE4D_ENST00000358923.6_Silent_p.K360K|PDE4D_ENST00000360047.5_Silent_p.K526K|PDE4D_ENST00000317118.8_Silent_p.K371K|PDE4D_ENST00000503258.1_Silent_p.K532K|PDE4D_ENST00000507116.1_Silent_p.K598K|PDE4D_ENST00000405755.2_Silent_p.K540K|PDE4D_ENST00000546160.1_Silent_p.K601K	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	662					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGCATTGTGCTTGTCACACA	0.483																																																	0													97	101	99					5																	58271511		2173	4296	6469	SO:0001819	synonymous_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1986G>A	5.37:g.58271511C>T			O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.K662	ENST00000340635.6	37	c.1986	CCDS47213.1	5																																																																																			PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.483	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0	90	0	C			58271511	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T	T	58271511	C	T	58271511	2	4	33	1	0	0	0	0	0	0	0	1	11681	796	28	3		3	PDE4D	5	58271511	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	13008739	58271511	122643749	51	7851											
MAP1B	4131	genome.wustl.edu	37	chr5	71495574	71495574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcagggggagccccacCgcctccaggaggaaagcaac	12	3	12	14	1	2	0	2	0	0	0	3	3	3	3	5	4	3	1	5	4	3	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:71495574C>T	ENST00000296755.7	+	5	6690	c.6392C>T	c.(6391-6393)cCg>cTg	p.P2131L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2131					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGCCCCACCGCCTCCAGGA	0.562																																					Melanoma(17;367 822 11631 31730 47712)												0													72	75	74					5																	71495574		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6392C>T	5.37:g.71495574C>T	ENSP00000296755:p.Pro2131Leu		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P2131L	ENST00000296755.7	37	c.6392	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940993	0.52972	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000018	T	0.16642	0.0400	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.74348	0.772;0.983	T	0.00044	-1.2220	10	0.52906	T	0.07	-11.901	19.7538	0.96281	0.0:1.0:0.0:0.0	.	2005;2131	A2BDK6;P46821	.;MAP1B_HUMAN	L	2131	ENSP00000296755:P2131L	ENSP00000296755:P2131L	P	+	2	0	MAP1B	71531330	1.000000	0.71417	0.937000	0.37676	0.967000	0.64934	5.999000	0.70665	2.690000	0.91761	0.655000	0.94253	CCG	MAP1B	-	NULL	ENSG00000131711		0.562	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	35	0	C	NM_005909		71495574	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	T	T	71495574	C	T	71495574	3	4	33	1	0	0	0	0	1	0	0	0	9266	652	23	1	6410	1	MAP1B	5	71495574	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	13224063	71495574	109419686	52	7852											
APC	324	genome.wustl.edu	37	chr5	112176831	112176831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcacctcatcattacaCgcctattgaaggaactcctt	11	13	5	12	1	3	2	3	2	0	0	4	3	4	3	3	1	2	0	3	1	4	5	rs371686531		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:112176831C>T	ENST00000457016.1	+	16	5920	c.5540C>T	c.(5539-5541)aCg>aTg	p.T1847M	APC_ENST00000257430.4_Missense_Mutation_p.T1847M|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T1847M			P25054	APC_HUMAN	adenomatous polyposis coli	1847	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATCATTACACGCCTATTGAA	0.358		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)						C	MET/THR,MET/THR,MET/THR	0,4404		0,0,2202	99	91	93		5540,5540,5486	6.1	1	5		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	81,81,81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1847/2844,1847/2844,1829/2826	112176831	1,13003	2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5540C>T	5.37:g.112176831C>T	ENSP00000413133:p.Thr1847Met		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T1847M	ENST00000457016.1	37	c.5540	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728949	0.69074	0.0	1.16E-4	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.77750	-1.12;-1.12;-1.12	6.07	6.07	0.98685	.	0.042710	0.85682	D	0.000000	D	0.87426	0.6174	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84923	0.0855	9	.	.	.	-19.5765	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1849;1847	Q4LE70;P25054	.;APC_HUMAN	M	1847	ENSP00000413133:T1847M;ENSP00000257430:T1847M;ENSP00000427089:T1847M	.	T	+	2	0	APC	112204730	1.000000	0.71417	0.973000	0.42090	0.953000	0.61014	7.270000	0.78493	2.890000	0.99128	0.650000	0.86243	ACG	APC	-	pfam_APC_Cys-rich_rpt	ENSG00000134982		0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0	67	0	C	NM_000038		112176831	1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	T	T	112176831	C	T	112176831	3	4	33	1	0	0	0	0	1	0	0	0	763	536	19	1	5598	1	APC	5	112176831	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	40681257	112176831	68738429	53	7853											
ANKHD1	54882	genome.wustl.edu	37	chr5	139781670	139781670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccgggaggggtcggtctgGggatccgcaccgtgaggctc	4	6	19	12	5	1	1	0	1	1	0	4	3	2	3	3	7	0	2	3	7	0	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:139781670G>T	ENST00000360839.2	+	1	272	c.118G>T	c.(118-120)Ggg>Tgg	p.G40W	CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G40W|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G40W|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G40W|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G40W	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	40	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCGGTCTGGGGATCCGCAC	0.761																																																	0													7	11	9					5																	139781670		2051	4165	6216	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.118G>T	5.37:g.139781670G>T	ENSP00000354085:p.Gly40Trp		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.G40W	ENST00000360839.2	37	c.118	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245401	0.80024	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.70399	-0.37;-0.42;-0.31;-0.17;-0.48;-0.21;-0.42	5.3	5.3	0.74995	.	0.134041	0.49305	D	0.000152	T	0.75436	0.3849	N	0.24115	0.695	0.51767	D	0.99993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.996;0.998;0.998	T	0.78380	-0.2226	10	0.87932	D	0	.	15.9934	0.80223	0.0:0.0:1.0:0.0	.	40;40;40;40;40	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	W	40;54;40;40;40;40;40;40;40	ENSP00000354085:G40W;ENSP00000297183:G40W;ENSP00000394489:G40W;ENSP00000378212:G40W;ENSP00000421069:G40W;ENSP00000378211:G40W;ENSP00000432016:G40W	ENSP00000432016:G40W	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139761854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.533000	0.53561	2.763000	0.94921	0.561000	0.74099	GGG	ANKHD1	-	NULL	ENSG00000131503		0.761	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0	21	0	G	NM_017747		139781670	1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	139781670	G	T	139781670	3	4	33	1	0	0	0	0	1	0	0	0	628	1232	43	3	120	3	ANKHD1	5	139781670	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	27604839	139781670	41133590	54	7854											
CAMK2A	815	genome.wustl.edu	37	chr5	149637177	149637177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagatgctgtcatgtagtCggactgtgggcggggcaagg	7	9	18	7	2	1	1	1	1	0	1	2	3	1	2	0	5	1	3	0	5	2	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:149637177C>T	ENST00000348628.6	-	4	886	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CAMK2A_ENST00000398376.3_Missense_Mutation_p.R74Q	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCATGTAGTCGGACTGTGGG	0.627																																																	0													72	89	84					5																	149637177		2048	4202	6250	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.221G>A	5.37:g.149637177C>T	ENSP00000261793:p.Arg74Gln		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R74Q	ENST00000348628.6	37	c.221	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884030	0.91814	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000510347	T;T;T	0.26067	1.76;1.76;1.76	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.24044	0.0582	L	0.41079	1.255	0.80722	D	1	P;P;P	0.50528	0.921;0.851;0.936	B;B;B	0.37451	0.161;0.073;0.25	T	0.01666	-1.1300	10	0.46703	T	0.11	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	74;74;74	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	Q	74	ENSP00000261793:R74Q;ENSP00000381412:R74Q;ENSP00000426607:R74Q	ENSP00000261793:R74Q	R	-	2	0	CAMK2A	149617370	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.168000	0.77570	2.835000	0.97688	0.591000	0.81541	CGA	CAMK2A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000070808		0.627	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2		0	36	0	C	NM_015981		149637177	-1			no_errors	ENST00000398376	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	149637177	C	T	149637177	3	4	33	1	0	0	0	0	1	0	0	0	2606	884	31	1	1312	1	CAMK2A	5	149637177	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	9855507	149637177	31278083	55	7855											
EBF1	1879	genome.wustl.edu	37	chr5	158140134	158140134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggcctcggcaatgtcggCcgctctcttcagaatgattt	7	11	11	12	3	2	2	1	1	1	1	5	2	2	2	2	3	0	2	2	3	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:158140134C>T	ENST00000313708.6	-	13	1495	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	EBF1_ENST00000517373.1_Missense_Mutation_p.A397T|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A374T	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	405					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAATGTCGGCCGCTCTCTTC	0.532			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													82	69	74					5																	158140134		2203	4300	6503	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1213G>A	5.37:g.158140134C>T	ENSP00000322898:p.Ala405Thr		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.A405T	ENST00000313708.6	37	c.1213	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.362499	0.95877	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.46063	0.88;0.88;0.88	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.81497	2.545	0.80722	D	1	B;D;D;P	0.63880	0.147;0.993;0.984;0.524	B;P;P;B	0.62491	0.006;0.903;0.561;0.077	T	0.62784	-0.6781	10	0.35671	T	0.21	-4.0122	20.2985	0.98592	0.0:1.0:0.0:0.0	.	405;392;405;374	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	T	405;405;374;397	ENSP00000322898:A405T;ENSP00000370029:A374T;ENSP00000428020:A397T	ENSP00000322898:A405T	A	-	1	0	EBF1	158072712	1.000000	0.71417	0.922000	0.36590	0.940000	0.58332	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GCC	EBF1	-	superfamily_bHLH_dom	ENSG00000164330		0.532	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0	60	0	C	NM_024007		158140134	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	8.05	79	7	SNP	1.000	T	T	158140134	C	T	158140134	3	4	33	1	0	0	0	0	1	0	0	0	4894	739	26	3	578	3	EBF1	5	158140134	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	8502957	158140134	22775126	56	7856											
GABRG2	2566	genome.wustl.edu	37	chr5	161522567	161522567	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgaacgctatcaataTggtgagtttccaaataaaat	15	12	7	7	1	1	2	1	2	0	0	3	2	3	2	2	1	1	2	2	1	7	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:161522567T>A	ENST00000361925.4	+	3	546	c.326T>A	c.(325-327)aTg>aAg	p.M109K	GABRG2_ENST00000356592.3_Splice_Site_p.M109K|GABRG2_ENST00000414552.2_Splice_Site_p.M109K|GABRG2_ENST00000393933.4_Splice_Site_p.M14K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	109					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTATCAATATGGTGAGTTTC	0.343																																																	0													168	162	164					5																	161522567		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.327+1T>A	5.37:g.161522567T>A			F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M109K	ENST00000361925.4	37	c.326	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	T	26.6	4.748716	0.89753	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	6.07	6.07	0.98685	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.90425	3.115	0.80722	D	1	P;P;D	0.57257	0.779;0.904;0.979	P;P;P	0.62649	0.614;0.842;0.905	D	0.91522	0.5235	10	0.87932	D	0	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	109;109;109	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	109;109;109;14;14	ENSP00000349000:M109K;ENSP00000410732:M109K;ENSP00000354651:M109K;ENSP00000377510:M14K;ENSP00000430182:M14K	ENSP00000349000:M109K	M	+	2	0	GABRG2	161455145	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.603000	0.82811	2.330000	0.79161	0.528000	0.53228	ATG	GABRG2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000113327		0.343	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	-	0	62	0	T		Missense_Mutation	161522567	1	tier1	-	no_errors	ENST00000356592	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	A	A	161522567	T	A	161522567	5	1	33	1	0	0	0	0	0	0	1	0	6196	1478	51	5	336	5	GABRG2	5	161522567	Splice_Site	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	3382433	161522567	19392693	57	7857											
OR2B6	26212	genome.wustl.edu	37	chr6	27925834	27925834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctccaaggaccaaggaaaGatggtttctctcttctatgg	11	11	10	9	0	3	1	0	0	3	1	5	3	4	3	2	4	1	2	2	4	4	3	rs369732488		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:27925834G>C	ENST00000244623.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAAGGAAAGATGGTTTCTC	0.448																																																	0													125	119	121					6																	27925834		2203	4300	6503	SO:0001583	missense	0			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"GPCR / Class A : Olfactory receptors"	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.816G>C	6.37:g.27925834G>C	ENSP00000244623:p.Lys272Asn		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K272N	ENST00000244623.1	37	c.816	CCDS4642.1	6	.	.	.	.	.	.	.	.	.	.	g	14.86	2.661879	0.47572	.	.	ENSG00000124657	ENST00000244623	T	0.00207	8.55	3.82	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003331	T	0.00300	0.0009	M	0.91920	3.255	0.27662	N	0.947057	D	0.89917	1.0	D	0.97110	1.0	T	0.22173	-1.0224	10	0.87932	D	0	.	8.7235	0.34456	0.2049:0.0:0.7951:0.0	.	272	P58173	OR2B6_HUMAN	N	272	ENSP00000244623:K272N	ENSP00000244623:K272N	K	+	3	2	OR2B6	28033813	0.000000	0.05858	0.970000	0.41538	0.769000	0.43574	-0.572000	0.05881	0.322000	0.23283	0.591000	0.81541	AAG	OR2B6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000124657		0.448	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B6	HGNC	protein_coding	OTTHUMT00000040165.1	-	0	57	0	G			27925834	1	tier1	-	no_errors	ENST00000244623	ensembl	human	known	74_37	missense	27.12	43	16	SNP	0.909	C	C	27925834	G	C	27925834	3	2	33	1	0	0	0	0	1	0	0	0	11030	933	33	5	818	5	OR2B6	6	27925834	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		27925834	143189233	58	7858											
DNAH8	1769	genome.wustl.edu	37	chr6	38828241	38828241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtttttaaggtaaaaatGcatatcaaatcacctactga	16	14	5	6	0	2	1	2	1	0	0	2	1	2	1	1	1	2	3	1	1	8	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:38828241G>T	ENST00000359357.3	+	41	5570	c.5316G>T	c.(5314-5316)atG>atT	p.M1772I	DNAH8_ENST00000441566.1_Missense_Mutation_p.M1772I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M1989I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1772					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGTAAAAATGCATATCAAAT	0.279																																																	0													40	43	42					6																	38828241		2198	4298	6496	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5316G>T	6.37:g.38828241G>T	ENSP00000352312:p.Met1772Ile		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M1772I	ENST00000359357.3	37	c.5316		6	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940933	0.73557	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.87;1.86;1.82	5.4	5.4	0.78164	.	0.041566	0.85682	D	0.000000	T	0.20251	0.0487	M	0.67953	2.075	0.58432	D	0.999999	P	0.37548	0.599	B	0.35607	0.206	T	0.02975	-1.1087	10	0.36615	T	0.2	.	19.177	0.93605	0.0:0.0:1.0:0.0	.	1772	Q96JB1	DYH8_HUMAN	I	1977;1977;1772;1772	ENSP00000333363:M1977I;ENSP00000352312:M1772I;ENSP00000402294:M1772I	ENSP00000333363:M1977I	M	+	3	0	DNAH8	38936219	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.414000	0.66405	2.525000	0.85131	0.650000	0.86243	ATG	DNAH8	-	NULL	ENSG00000124721		0.279	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	54	0	G	NM_001206927		38828241	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	43.86	32	25	SNP	1.000	T	T	38828241	G	T	38828241	3	4	33	1	0	0	0	0	1	0	0	0	4621	1319	46	3	5470	3	DNAH8	6	38828241	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	10902407	38828241	132286826	59	7859											
LMBRD1	55788	genome.wustl.edu	37	chr6	70506734	70506734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgaatatgcaccagcCgatcaccagctccgccgagg	10	4	12	15	4	1	0	1	0	0	0	2	4	2	0	6	2	3	2	6	2	2	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:70506734C>G	ENST00000370577.3	-	1	269	c.40G>C	c.(40-42)Ggc>Cgc	p.G14R		NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	14					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATGCACCAGCCGATCACCAGC	0.647											OREG0017522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	34	34					6																	70506734		2203	4300	6503	SO:0001583	missense	0			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"chromosome 6 open reading frame 209"	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.40G>C	6.37:g.70506734C>G	ENSP00000359609:p.Gly14Arg	1122	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.G14R	ENST00000370577.3	37	c.40	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532567	0.85812	.	.	ENSG00000168216	ENST00000370577	T	0.11169	2.8	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00912	-1.1517	10	0.28530	T	0.3	-6.0093	17.1903	0.86877	0.0:1.0:0.0:0.0	.	14	Q9NUN5	LMBD1_HUMAN	R	14	ENSP00000359609:G14R	ENSP00000359609:G14R	G	-	1	0	LMBRD1	70563455	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.503000	0.66962	2.579000	0.87056	0.561000	0.74099	GGC	LMBRD1	-	NULL	ENSG00000168216		0.647	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	-	0	73	0	C	NM_018368		70506734	-1	tier1	-	no_errors	ENST00000370577	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	G	G	70506734	C	G	70506734	3	3	33	1	0	0	0	0	1	0	0	0	8872	652	23	5	1646	5	LMBRD1	6	70506734	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	31678493	70506734	100608333	60	7860											
FAM135A	57579	genome.wustl.edu	37	chr6	71236398	71236398	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaaaacctcaaatacAagcgtaagtaatggaacgta	18	8	6	9	2	2	0	2	0	0	0	2	1	2	1	2	1	4	3	2	1	9	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:71236398A>C	ENST00000418814.2	+	15	4225	c.3611A>C	c.(3610-3612)cAa>cCa	p.Q1204P	FAM135A_ENST00000505868.1_Missense_Mutation_p.Q1204P|FAM135A_ENST00000370479.3_Missense_Mutation_p.Q991P|FAM135A_ENST00000505769.1_Missense_Mutation_p.Q784P|FAM135A_ENST00000361499.3_Missense_Mutation_p.Q1008P|FAM135A_ENST00000457062.2_Missense_Mutation_p.Q991P	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1204										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCTCAAATACAAGCGTAAGTA	0.363																																																	0													34	36	35					6																	71236398		2200	4295	6495	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3611A>C	6.37:g.71236398A>C	ENSP00000410768:p.Gln1204Pro		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.Q1204P	ENST00000418814.2	37	c.3611	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	A	14.32	2.498908	0.44455	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.23754	2.21;2.2;1.89;2.2;2.2;2.2	5.52	5.52	0.82312	.	0.270105	0.43579	D	0.000543	T	0.20292	0.0488	L	0.57536	1.79	0.27065	N	0.963465	P;P;P;P	0.46656	0.882;0.708;0.773;0.807	P;B;B;P	0.49999	0.628;0.328;0.361;0.528	T	0.08207	-1.0733	10	0.40728	T	0.16	.	10.2393	0.43301	0.7558:0.0:0.0:0.2441	.	1204;1204;1008;991	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	P	1204;991;784;991;1008;1204	ENSP00000410768:Q1204P;ENSP00000359510:Q991P;ENSP00000423785:Q784P;ENSP00000409201:Q991P;ENSP00000354913:Q1008P;ENSP00000423307:Q1204P	ENSP00000354913:Q1008P	Q	+	2	0	FAM135A	71293119	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.181000	0.50903	2.211000	0.71520	0.533000	0.62120	CAA	FAM135A	-	NULL	ENSG00000082269		0.363	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2		0	17	0	A	NM_020819		71236398	1			no_errors	ENST00000418814	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	C	C	71236398	A	C	71236398	3	2	33	1	0	0	0	0	1	0	0	0	5467	130	5	4	3739	4	FAM135A	6	71236398	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	729664	71236398	99878669	61	7861											
PHIP	55023	genome.wustl.edu	37	chr6	79655907	79655907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcggtattgatcgtgtagGtgtagagaatgcagaggtag	10	11	17	3	2	0	3	0	1	0	2	1	4	0	3	0	4	1	5	0	4	5	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:79655907G>T	ENST00000275034.4	-	38	4608	c.4441C>A	c.(4441-4443)Cct>Act	p.P1481T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1481					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATCGTGTAGGTGTAGAGAAT	0.413																																																	0													209	194	199					6																	79655907		2203	4300	6503	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4441C>A	6.37:g.79655907G>T	ENSP00000275034:p.Pro1481Thr		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.P1481T	ENST00000275034.4	37	c.4441	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	G	7.066	0.567338	0.13560	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.42900	0.96	5.87	4.09	0.47781	.	0.356670	0.27797	N	0.017804	T	0.11793	0.0287	L	0.27053	0.805	0.35862	D	0.827596	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.08310	-1.0728	9	.	.	.	-2.5649	8.3022	0.32021	0.1373:0.0:0.734:0.1287	.	1481;1481	A7J992;Q8WWQ0	.;PHIP_HUMAN	T	1481;207	ENSP00000275034:P1481T	.	P	-	1	0	PHIP	79712626	1.000000	0.71417	0.952000	0.39060	0.390000	0.30446	3.972000	0.56838	0.813000	0.34350	-0.229000	0.12294	CCT	PHIP	-	NULL	ENSG00000146247		0.413	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	-	0	63	0	G			79655907	-1	tier1	-	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.988	T	T	79655907	G	T	79655907	3	4	33	1	0	0	0	0	1	0	0	0	11881	1261	44	3	1036	3	PHIP	6	79655907	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	8419509	79655907	91459160	62	7862											
KIAA1244	57221	genome.wustl.edu	37	chr6	138550974	138550974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctgaatgggagtgccgtGctgaagatcgcggaggtgag	9	8	18	6	3	1	4	0	3	1	1	2	7	1	6	1	3	2	1	1	3	2	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:138550974G>A	ENST00000251691.4	+	5	571	c.405G>A	c.(403-405)gtG>gtA	p.V135V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGTGCCGTGCTGAAGATCG	0.468																																																	0													201	166	178					6																	138550974		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.405G>A	6.37:g.138550974G>A				Silent	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.V135	ENST00000251691.4	37	c.405	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.468	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0	77	0	G	NM_020340		138550974	1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	A	A	138550974	G	A	138550974	2	1	33	1	0	0	0	0	0	0	0	1	8244	1306	46	3		3	KIAA1244	6	138550974	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	58895067	138550974	32564093	63	7863											
SYNE1	23345	genome.wustl.edu	37	chr6	152652910	152652910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcatctaaattcagatgctCtatcattttctgcttttgat	9	19	5	8	0	6	2	3	1	3	1	6	2	6	2	0	0	2	2	0	0	3	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:152652910C>T	ENST00000367255.5	-	78	13511	c.12910G>A	c.(12910-12912)Gag>Aag	p.E4304K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E4233K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4169K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4233K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4304K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4304					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGATGCTCTATCATTTTC	0.388										HNSCC(10;0.0054)																																							0													110	107	108					6																	152652910		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12910G>A	6.37:g.152652910C>T	ENSP00000356224:p.Glu4304Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4304K	ENST00000367255.5	37	c.12910	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027874	0.35797	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.99	5.99	0.97316	.	0.192127	0.36101	N	0.002793	T	0.18130	0.0435	L	0.44542	1.39	0.80722	D	1	P;B;B;P	0.35872	0.478;0.391;0.391;0.525	B;B;B;B	0.30401	0.115;0.053;0.053;0.115	T	0.06144	-1.0843	10	0.12103	T	0.63	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	4304;4304;4304;4233	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4304;4233;4304;4233;4169	ENSP00000356224:E4304K;ENSP00000396024:E4233K;ENSP00000265368:E4304K;ENSP00000390975:E4233K;ENSP00000341887:E4169K	ENSP00000265368:E4304K	E	-	1	0	SYNE1	152694603	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	4.646000	0.61411	2.840000	0.97914	0.655000	0.94253	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	83	0	C	NM_182961		152652910	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	20.27	58	15	SNP	0.982	T	T	152652910	C	T	152652910	3	4	33	1	0	0	0	0	1	0	0	0	15492	922	32	3	13832	3	SYNE1	6	152652910	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	14101936	152652910	18462157	64	7864											
THBS2	7058	genome.wustl.edu	37	chr6	169648854	169648854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgccgtcctgcttgagCtgggccgtgaggaagaagcc	7	8	15	11	2	0	3	0	2	0	1	1	5	1	4	4	2	4	2	4	2	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:169648854C>T	ENST00000366787.3	-	4	516	c.267G>A	c.(265-267)caG>caA	p.Q89Q		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	89	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Q89Q(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTGCTTGAGCTGGGCCGTGA	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)												1	Substitution - coding silent(1)	endometrium(1)											122	104	111					6																	169648854		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.267G>A	6.37:g.169648854C>T			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.Q89	ENST00000366787.3	37	c.267	CCDS34574.1	6																																																																																			THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000186340		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1		0	41	0	C	NM_003247		169648854	-1			no_errors	ENST00000366787	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.972	T	T	169648854	C	T	169648854	2	4	33	1	0	0	0	0	0	0	0	1	15901	796	28	3		3	THBS2	6	169648854	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	16995944	169648854	1466213	65	7865											
CYP3A5	1577	genome.wustl.edu	37	chr7	99273820	99273820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaaaaagtccatgtgtaCgggtcccatatctacaaagt	13	12	7	9	1	2	0	0	0	2	0	4	0	4	0	2	1	2	1	2	1	7	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:99273820C>T	ENST00000222982.4	-	2	182	c.83G>A	c.(82-84)cGt>cAt	p.R28H	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.R18H|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.R28H	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	28			R -> C (in allele CYP3A5*8; dbSNP:rs55817950). {ECO:0000269|PubMed:12893984}.		alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCCATGTGTACGGGTCCCATA	0.463																																																	0													104	95	98					7																	99273820		2203	4300	6503	SO:0001583	missense	0			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.83G>A	7.37:g.99273820C>T	ENSP00000222982:p.Arg28His		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R28H	ENST00000222982.4	37	c.83	CCDS5672.1	7	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540998	0.13250	.	.	ENSG00000106258	ENST00000222982;ENST00000343703;ENST00000439761	T;T;T	0.04015	3.73;3.73;3.73	3.78	-4.55	0.03441	.	0.737834	0.13379	N	0.392308	T	0.01765	0.0056	N	0.04018	-0.295	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.43245	-0.9403	10	0.27082	T	0.32	.	5.4103	0.16344	0.0:0.4293:0.3522:0.2185	.	18;28;28	F5H4S0;B7Z5I7;P20815	.;.;CP3A5_HUMAN	H	28;18;28	ENSP00000222982:R28H;ENSP00000342969:R18H;ENSP00000401269:R28H	ENSP00000222982:R28H	R	-	2	0	CYP3A5	99111756	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.500000	0.06405	-0.715000	0.04968	-0.391000	0.06502	CGT	CYP3A5	-	NULL	ENSG00000106258		0.463	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1		0	78	0	C			99273820	-1			no_errors	ENST00000222982	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.000	T	T	99273820	C	T	99273820	3	4	33	1	0	0	0	0	1	0	0	0	4189	536	19	1	1473	1	CYP3A5	7	99273820	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09		99273820	59864843	66	7866											
TAS2R16	50833	genome.wustl.edu	37	chr7	122634852	122634852	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttttcaacgtagggctGctcagcatcagtgaagtgga	10	11	11	9	1	3	1	3	1	0	0	4	2	4	2	1	2	3	4	1	2	3	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:122634852G>A	ENST00000249284.2	-	1	902	c.837C>T	c.(835-837)agC>agT	p.S279S		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	279					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACGTAGGGCTGCTCAGCATCA	0.418																																																	0													114	116	115					7																	122634852		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.837C>T	7.37:g.122634852G>A			A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	pfam_TAS2_rcpt	p.S279	ENST00000249284.2	37	c.837	CCDS5785.1	7																																																																																			TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.418	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	-	0	55	0	G	NM_016945		122634852	-1	tier1	-	no_errors	ENST00000249284	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.007	A	A	122634852	G	A	122634852	2	1	33	1	0	0	0	0	0	0	0	1	15616	1310	46	3		3	TAS2R16	7	122634852	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	23361032	122634852	36503811	67	7867											
CHPF2	54480	genome.wustl.edu	37	chr7	150932436	150932436	+	Frame_Shift_Del	DEL	C	C	-																															ggatgacacatatgtgcaggCcccccgcctggcagcccttg																								rs146139489	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:150932436delC	ENST00000035307.2	+	2	2079	c.566delC	c.(565-567)gccfs	p.A189fs	CHPF2_ENST00000495645.1_Frame_Shift_Del_p.A181fs	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	189					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TATGTGCAGGCCCCCCGCCTG	0.617																																																	0													90	93	92					7																	150932436		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.566delC	7.37:g.150932436delC	ENSP00000035307:p.Ala189fs		B2DBD8|Q6P2I4|Q6UXD2	Frame_Shift_Del	DEL	pfam_Chond_GalNAc,pfam_Fringe-like	p.R191fs	ENST00000035307.2	37	c.566	CCDS34779.1	7																																																																																			CHPF2	-	pfam_Fringe-like	ENSG00000033100		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2		0	35	0	C	NM_019015		150932436	1	tier1		no_errors	ENST00000035307	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-	-	150932436	C	-	150932436	7	5	33	1	0	1	0	1	0	0	0	0	3376	739	26	0	572	0	CHPF2	7	150932436	Frame_Shift_Del	DEL	C	TCGA-IG-A97I-01A-11D-A387-09	28297584	150932436	8206227	68	7868											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110457161	110457161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatttgccgtttcttCtgcaggtgtaaaagtcctta	7	16	9	9	1	3	0	0	0	3	0	4	1	4	1	2	2	2	3	2	2	3	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr8:110457161C>A	ENST00000378402.5	+	38	5167	c.5063C>A	c.(5062-5064)tCt>tAt	p.S1688Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1688	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCGTTTCTTCTGCAGGTGTA	0.433										HNSCC(38;0.096)																																							0													139	135	136					8																	110457161		1872	4109	5981	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5063C>A	8.37:g.110457161C>A	ENSP00000367655:p.Ser1688Tyr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.S1688Y	ENST00000378402.5	37	c.5063	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929906	0.34096	.	.	ENSG00000205038	ENST00000378402	T	0.78003	-1.14	6.17	3.32	0.38043	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.830686	0.10953	N	0.615819	T	0.74627	0.3741	M	0.66939	2.045	0.09310	N	1	P	0.34826	0.471	B	0.38921	0.285	T	0.67122	-0.5750	10	0.59425	D	0.04	.	3.8562	0.08976	0.3028:0.4733:0.1464:0.0775	.	1688	Q86WI1	PKHL1_HUMAN	Y	1688	ENSP00000367655:S1688Y	ENSP00000367655:S1688Y	S	+	2	0	PKHD1L1	110526337	0.001000	0.12720	0.010000	0.14722	0.985000	0.73830	0.693000	0.25497	0.874000	0.35823	0.655000	0.94253	TCT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	37	0	C	NM_177531		110457161	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	16.39	51	10	SNP	0.009	A	A	110457161	C	A	110457161	3	1	33	1	0	0	0	0	1	0	0	0	12011	913	32	3	5213	3	PKHD1L1	8	110457161	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09		110457161	35906861	69	7869											
MTBP	27085	genome.wustl.edu	37	chr8	121463519	121463521	+	In_Frame_Del	DEL	GAA	GAA	-																															tgggtgctgttgagtgttttGaagaagaagacagtaatagc																								rs372780440	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr8:121463519_121463521delGAA	ENST00000305949.1	+	4	427_429	c.382_384delGAA	c.(382-384)gaadel	p.E130del		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	130					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGAGTGTTTTGAAGAAGAAGACA	0.3														5	0.000998403	0.0038	0	5008	,	,		15654	0		0	False		,,,				2504	0																0										10,4254		0,10,2122						4	1			106	0,8250		0,0,4125	no	coding	MTBP	NM_022045.3		0,10,6247	A1A1,A1R,RR		0.0,0.2345,0.0799				10,12504				SO:0001651	inframe_deletion	0				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"MDM2 (mouse double minute 2)-binding protein, 104kD", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.382_384delGAA	8.37:g.121463525_121463527delGAA	ENSP00000303398:p.Glu130del		B4DUR5|Q9HA89	In_Frame_Del	DEL	NULL	p.E130in_frame_del	ENST00000305949.1	37	c.382_384	CCDS6333.1	8																																																																																			MTBP	-	NULL	ENSG00000172167		0.3	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTBP	HGNC	protein_coding	OTTHUMT00000381530.1		0	44	0	GAA	NM_022045		121463521	1	tier1		no_errors	ENST00000305949	ensembl	human	known	74_37	in_frame_del	15.09	45	8	DEL	1.000:1.000:1.000	-	-	121463521	GAA	-	121463519	7	5	33	1	0	1	0	1	0	0	0	0	9950	1291	45	0	396	0	MTBP	8	121463519	In_Frame_Del	DEL	GAA	TCGA-IG-A97I-01A-11D-A387-09	11006358	121463519	24900503	70	7870											
ZC3H3	23144	genome.wustl.edu	37	chr8	144550706	144550706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccaggctgcgctgcactgCccggctgcagacggggagag	6	4	18	13	3	0	2	0	0	0	2	0	3	0	2	2	5	4	5	2	5	0	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr8:144550706C>T	ENST00000262577.5	-	7	1982	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	651					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGCTGCACTGCCCGGCTGCAG	0.662																																																	0													27	32	30					8																	144550706		2187	4296	6483	SO:0001583	missense	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1951G>A	8.37:g.144550706C>T	ENSP00000262577:p.Ala651Thr		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A651T	ENST00000262577.5	37	c.1951	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326707	0.81690	.	.	ENSG00000014164	ENST00000262577	T	0.03386	3.95	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	M	0.68952	2.095	0.80722	D	1	D	0.53312	0.959	P	0.56343	0.796	T	0.00292	-1.1842	10	0.59425	D	0.04	-18.0184	18.4507	0.90703	0.0:1.0:0.0:0.0	.	651	Q8IXZ2	ZC3H3_HUMAN	T	651	ENSP00000262577:A651T	ENSP00000262577:A651T	A	-	1	0	ZC3H3	144621849	1.000000	0.71417	0.998000	0.56505	0.230000	0.25150	7.212000	0.77941	2.383000	0.81215	0.561000	0.74099	GCA	ZC3H3	-	NULL	ENSG00000014164		0.662	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2		0	47	0	C	NM_015117		144550706	-1			no_errors	ENST00000262577	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	144550706	C	T	144550706	3	4	33	1	0	0	0	0	1	0	0	0	17617	739	26	3	919	3	ZC3H3	8	144550706	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	23087187	144550706	1813316	71	7871											
FRMPD1	22844	genome.wustl.edu	37	chr9	37744831	37744831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggaaaccaaatcagtcatCgactctcgagtgtcttctat	12	12	7	10	2	5	0	2	0	3	0	7	3	5	1	1	1	1	0	1	1	3	2	rs374764713		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:37744831C>T	ENST00000539465.1	+	16	3395	c.2802C>T	c.(2800-2802)atC>atT	p.I934I	FRMPD1_ENST00000377765.3_Silent_p.I934I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	934						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.I934I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AATCAGTCATCGACTCTCGAG	0.542																																																	1	Substitution - coding silent(1)	prostate(1)											113	98	103					9																	37744831		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2802C>T	9.37:g.37744831C>T			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.I934	ENST00000539465.1	37	c.2802	CCDS6612.1	9																																																																																			FRMPD1	-	NULL	ENSG00000070601		0.542	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1		0	66	0	C	NM_014907		37744831	1			no_errors	ENST00000377765	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.623	T	T	37744831	C	T	37744831	2	4	33	1	0	0	0	0	0	0	0	1	6081	874	31	1		1	FRMPD1	9	37744831	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09		37744831	103468600	72	7872											
C9orf135	138255	genome.wustl.edu	37	chr9	72521031	72521031	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactctatcccttgactagTgggcctattgtgccaattta	10	14	7	10	0	1	1	0	1	1	0	2	1	2	1	3	1	2	0	3	1	6	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:72521031T>A	ENST00000377197.3	+	6	756	c.669T>A	c.(667-669)agT>agA	p.S223R	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	223						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CCTTGACTAGTGGGCCTATTG	0.333																																																	0													106	107	107					9																	72521031		2203	4300	6503	SO:0001583	missense	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.669T>A	9.37:g.72521031T>A	ENSP00000366402:p.Ser223Arg		A7E2U4|B2RN61	Missense_Mutation	SNP	NULL	p.S223R	ENST00000377197.3	37	c.669	CCDS35041.1	9	.	.	.	.	.	.	.	.	.	.	T	9.039	0.989225	0.18966	.	.	ENSG00000204711	ENST00000377197	.	.	.	5.35	-10.7	0.00240	.	1.510140	0.03739	N	0.254611	T	0.11665	0.0284	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13926	-1.0491	9	0.33141	T	0.24	-3.9401	2.7589	0.05300	0.1924:0.272:0.3912:0.1445	.	223	Q5VTT2	CI135_HUMAN	R	223	.	ENSP00000366402:S223R	S	+	3	2	C9orf135	71710851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.579000	0.05834	-2.032000	0.00926	-1.070000	0.02257	AGT	C9orf135	-	NULL	ENSG00000204711		0.333	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	-	0	86	0	T	NM_001010940		72521031	1	tier1	-	no_errors	ENST00000377197	ensembl	human	known	74_37	missense	32.91	53	26	SNP	0.000	A	A	72521031	T	A	72521031	3	1	33	1	0	0	0	0	1	0	0	0	2465	1693	59	5	691	5	C9orf135	9	72521031	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	34776200	72521031	68692400	73	7873											
FLJ46321	389763	genome.wustl.edu	37	chr9	84605932	84605932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcagcaacccctccagaaGacctaatactgtcccctcgg	10	7	6	18	1	1	2	1	0	0	2	4	2	3	2	7	1	3	1	7	1	4	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:84605932G>C	ENST00000344803.2	+	4	594	c.547G>C	c.(547-549)Gac>Cac	p.D183H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	183	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCTCCAGAAGACCTAATACT	0.552																																																	0													118	117	118					9																	84605932		1939	4139	6078	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.547G>C	9.37:g.84605932G>C	ENSP00000341988:p.Asp183His			Missense_Mutation	SNP	NULL	p.D183H	ENST00000344803.2	37	c.547	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842286	0.32513	.	.	ENSG00000214929	ENST00000344803	T	0.05199	3.48	3.1	2.15	0.27550	.	3.124150	0.01154	N	0.006489	T	0.11410	0.0278	L	0.52573	1.65	0.09310	N	1	P	0.50710	0.938	P	0.46975	0.533	T	0.27020	-1.0086	10	0.30078	T	0.28	-3.42	8.0517	0.30581	0.0:0.2516:0.7484:0.0	.	183	Q6ZQQ2	F75D1_HUMAN	H	183	ENSP00000341988:D183H	ENSP00000341988:D183H	D	+	1	0	FAM75D1	83795752	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.027000	0.13621	0.854000	0.35336	0.644000	0.83932	GAC	SPATA31D1	-	NULL	ENSG00000214929		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	111	0	G	NM_001001670		84605932	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	35.35	64	35	SNP	0.001	C	C	84605932	G	C	84605932	3	2	33	1	0	0	0	0	1	0	0	0	5954	942	33	5	561	5	FLJ46321	9	84605932	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	12084901	84605932	56607499	74	7874											
SVEP1	79987	genome.wustl.edu	37	chr9	113238591	113238591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcactacaaaatgatGggacctgcaagtaaaaaatg	17	8	8	8	0	1	1	1	1	0	0	1	2	1	2	1	1	3	3	1	1	7	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:113238591G>T	ENST00000401783.2	-	14	2828	c.2492C>A	c.(2491-2493)cCa>cAa	p.P831Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.P808Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.P808Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.P831Q|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	831					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAAAATGATGGGACCTGCAA	0.403																																																	0													102	102	102					9																	113238591		1872	4104	5976	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2492C>A	9.37:g.113238591G>T	ENSP00000384917:p.Pro831Gln		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.P831Q	ENST00000401783.2	37	c.2492	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095247	0.76870	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.77877	-0.97;-0.97;-1.13;1.21	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.72118	2.19	0.44677	D	0.997663	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85018	0.0910	10	0.29301	T	0.29	.	18.9115	0.92487	0.0:0.0:1.0:0.0	.	831;831;831	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	Q	831;808;831;808	ENSP00000384917:P831Q;ENSP00000363593:P808Q;ENSP00000304118:P831Q;ENSP00000363585:P808Q	ENSP00000304118:P831Q	P	-	2	0	SVEP1	112278412	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.601000	0.90864	2.469000	0.83416	0.460000	0.39030	CCA	SVEP1	-	NULL	ENSG00000165124		0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0	73	0	G			113238591	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	113238591	G	T	113238591	3	4	33	1	0	0	0	0	1	0	0	0	15467	1348	47	3	8363	3	SVEP1	9	113238591	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	28632659	113238591	27974840	75	7875											
SPTAN1	6709	genome.wustl.edu	37	chr9	131388230	131388230	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccgcaagaagaagctTctggaggctcagagtcactt	10	7	12	12	2	3	3	2	0	1	3	3	4	3	4	2	2	1	3	2	2	3	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:131388230T>G	ENST00000372731.4	+	47	6347	c.6237T>G	c.(6235-6237)ctT>ctG	p.L2079L	SPTAN1_ENST00000372739.3_Silent_p.L2084L|SPTAN1_ENST00000358161.5_Silent_p.L2084L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2079					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAAGAAGCTTCTGGAGGCTC	0.617																																					NSCLC(120;833 1744 2558 35612 37579)												0													52	58	56					9																	131388230		2203	4300	6503	SO:0001819	synonymous_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6237T>G	9.37:g.131388230T>G			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.L2084	ENST00000372731.4	37	c.6252	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.617	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	59	0	T	NM_003127		131388230	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	silent	54.39	26	31	SNP	0.997	G	G	131388230	T	G	131388230	2	3	33	1	0	0	0	0	0	0	0	1	15164	1770	62	4		4	SPTAN1	9	131388230	Silent	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	18149639	131388230	9825201	76	7876											
CEL	1056	genome.wustl.edu	37	chr9	135940034	135940034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccacctgcagggaccctGaaggccaagaacttcaagaa	13	5	10	13	0	1	3	1	1	0	2	1	4	1	4	4	2	3	1	4	2	5	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:135940034G>A	ENST00000372080.4	+	3	250	c.234G>A	c.(232-234)ctG>ctA	p.L78L	CEL_ENST00000351304.7_Silent_p.L75L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	75	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGGGACCCTGAAGGCCAAGA	0.642																																																	0													57	66	63					9																	135940034		2066	4194	6260	SO:0001819	synonymous_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.234G>A	9.37:g.135940034G>A			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.L78	ENST00000372080.4	37	c.234	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0	56	0	G			135940034	1	tier1	-	no_errors	ENST00000372080	ensembl	human	known	74_37	silent	17.07	34	7	SNP	1.000	A	A	135940034	G	A	135940034	2	1	33	1	0	0	0	0	0	0	0	1	3216	1277	45	3		3	CEL	9	135940034	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	4551804	135940034	5273397	77	7877											
DRGX	644168	genome.wustl.edu	37	chr10	50598228	50598228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatggcgagctcttctctgGtgaagacatctggatagtgt	8	13	12	8	1	4	2	1	1	3	1	5	4	4	3	0	3	1	1	0	3	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:50598228G>C	ENST00000374139.2	-	3	195	c.185C>G	c.(184-186)aCc>aGc	p.T62S	DRGX_ENST00000434016.1_Missense_Mutation_p.T67S			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	62					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTCTTCTCTGGTGAAGACATC	0.418																																																	0													79	74	76					10																	50598228		1858	4094	5952	SO:0001583	missense	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.185C>G	10.37:g.50598228G>C	ENSP00000363254:p.Thr62Ser			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.T67S	ENST00000374139.2	37	c.200		10	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687765	0.29962	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95756	-3.8;-3.8	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	L	0.46157	1.445	0.80722	D	1	D	0.58620	0.983	P	0.58077	0.832	D	0.94732	0.7910	10	0.30854	T	0.27	.	19.6204	0.95653	0.0:0.0:1.0:0.0	.	67	C9JW76	.	S	62;67	ENSP00000363254:T62S;ENSP00000401653:T67S	ENSP00000363254:T62S	T	-	2	0	DRGX	50268234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.636000	0.89361	0.655000	0.94253	ACC	DRGX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165606		0.418	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	-	0	71	0	G	XM_060970		50598228	-1	tier1	-	no_errors	ENST00000434016	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	C	C	50598228	G	C	50598228	3	2	33	1	0	0	0	0	1	0	0	0	4777	1261	44	5	621	5	DRGX	10	50598228	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		50598228	84936519	78	7878											
SYNPO2L	79933	genome.wustl.edu	37	chr10	75408586	75408586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcaattgtcctgcatttgGtcttggcctcttttatgctc	5	18	8	10	0	2	0	0	0	2	0	4	0	3	0	2	2	3	3	2	2	2	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:75408586G>T	ENST00000394810.2	-	4	973	c.824C>A	c.(823-825)aCc>aAc	p.T275N	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.T51N	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	275						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCTGCATTTGGTCTTGGCCTC	0.537																																																	0													59	50	53					10																	75408586		2203	4299	6502	SO:0001583	missense	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.824C>A	10.37:g.75408586G>T	ENSP00000378289:p.Thr275Asn		A5PKV9|Q68A20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T275N	ENST00000394810.2	37	c.824	CCDS44438.1	10	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767230	0.69878	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.25749	1.78;2.79;2.79	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	L	0.50333	1.59	0.58432	D	0.99999	D;D	0.65815	0.995;0.995	D;D	0.68483	0.911;0.958	T	0.44711	-0.9310	10	0.72032	D	0.01	-17.7459	17.7007	0.88293	0.0:0.0:1.0:0.0	.	275;51	Q9H987;Q9H987-2	SYP2L_HUMAN;.	N	51;275;275	ENSP00000361964:T51N;ENSP00000361963:T275N;ENSP00000378289:T275N	ENSP00000361963:T275N	T	-	2	0	SYNPO2L	75078592	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.582000	0.74049	2.441000	0.82636	0.484000	0.47621	ACC	SYNPO2L	-	NULL	ENSG00000166317		0.537	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2		0	30	0	G	NM_024875		75408586	-1			no_errors	ENST00000394810	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	75408586	G	T	75408586	3	4	33	1	0	0	0	0	1	0	0	0	15505	1261	44	3	2113	3	SYNPO2L	10	75408586	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	24810358	75408586	60126161	79	7879											
GHITM	27069	genome.wustl.edu	37	chr10	85901340	85901340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaggcctcccctgttgtGaagaattccatcacgaagaa	13	8	8	12	1	1	3	1	1	0	2	3	4	3	3	5	1	0	1	5	1	5	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:85901340G>A	ENST00000372134.3	+	2	277	c.84G>A	c.(82-84)gtG>gtA	p.V28V	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	28					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCCCTGTTGTGAAGAATTCCA	0.468																																																	0													121	115	117					10																	85901340		1876	4115	5991	SO:0001819	synonymous_variant	0			AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 5"					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.84G>A	10.37:g.85901340G>A			A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	pfam_Bax_inhibitor_1-related	p.V28	ENST00000372134.3	37	c.84	CCDS41542.1	10																																																																																			GHITM	-	NULL	ENSG00000165678		0.468	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHITM	HGNC	protein_coding	OTTHUMT00000049125.1	-	0	104	0	G	NM_014394		85901340	1	tier1	-	no_errors	ENST00000372134	ensembl	human	known	74_37	silent	31.34	46	21	SNP	0.995	A	A	85901340	G	A	85901340	2	1	33	1	0	0	0	0	0	0	0	1	6396	1277	45	3		3	GHITM	10	85901340	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	10492754	85901340	49633407	80	7880											
CYP2C18	1562	genome.wustl.edu	37	chr10	96495128	96495128	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggttgacccaaaggataTtgacatcacccccattgcca	12	9	7	13	0	2	2	2	2	0	0	2	3	2	3	4	2	1	1	4	2	2	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:96495128T>A	ENST00000285979.6	+	9	1599	c.1400T>A	c.(1399-1401)aTt>aAt	p.I467N	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.I408N	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	467					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCAAAGGATATTGACATCACC	0.493																																																	0													212	194	200					10																	96495128		2203	4300	6503	SO:0001583	missense	0			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1400T>A	10.37:g.96495128T>A	ENSP00000285979:p.Ile467Asn		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I467N	ENST00000285979.6	37	c.1400	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	t	14.39	2.520414	0.44866	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69806	-0.43;-0.43	4.05	4.05	0.47172	.	0.244693	0.30791	U	0.008879	T	0.79540	0.4463	M	0.87547	2.89	0.23056	N	0.998365	D;P	0.64830	0.994;0.834	D;P	0.65874	0.939;0.846	T	0.71041	-0.4707	10	0.87932	D	0	.	6.0553	0.19809	0.0:0.1149:0.0:0.8851	.	408;467	Q4VAT5;P33260	.;CP2CI_HUMAN	N	408;467	ENSP00000341293:I408N;ENSP00000285979:I467N	ENSP00000285979:I467N	I	+	2	0	CYP2C18	96485118	0.009000	0.17119	0.003000	0.11579	0.022000	0.10575	1.749000	0.38319	1.686000	0.51046	0.369000	0.22263	ATT	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000108242		0.493	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	-	0	84	0	T	NM_000772		96495128	1	tier1	-	no_errors	ENST00000285979	ensembl	human	known	74_37	missense	22.12	81	23	SNP	0.006	A	A	96495128	T	A	96495128	3	1	33	1	0	0	0	0	1	0	0	0	4174	1493	52	5	1434	5	CYP2C18	10	96495128	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	10593788	96495128	39039619	81	7881											
ANKRD2	26287	genome.wustl.edu	37	chr10	99338347	99338347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgacggggggtcagcCgacacgtgcgaccaggtgat	7	6	17	11	4	1	2	1	2	0	0	1	4	1	2	2	5	2	1	2	5	0	0	rs140424419	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:99338347C>T	ENST00000307518.5	+	4	789	c.522C>T	c.(520-522)gcC>gcT	p.A174A	ANKRD2_ENST00000370655.1_Silent_p.A147A|ANKRD2_ENST00000298808.5_Silent_p.A174A|ANKRD2_ENST00000455090.1_Silent_p.A147A			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	174					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GGGGGTCAGCCGACACGTGCG	0.622																																																	0								C	,	1,4345		0,1,2172	49	38	41		522,522	-10.3	0	10	dbSNP_134	41	3,8541		0,3,4269	no	coding-synonymous,coding-synonymous	ANKRD2	NM_001129981.1,NM_020349.2	,	0,4,6441	TT,TC,CC		0.0351,0.023,0.031	,	174/328,174/361	99338347	4,12886	2173	4272	6445	SO:0001819	synonymous_variant	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"Ankyrin repeat domain containing"	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.522C>T	10.37:g.99338347C>T			Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A174	ENST00000307518.5	37	c.522	CCDS7466.1	10																																																																																			ANKRD2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165887		0.622	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0	40	0	C			99338347	1	tier1	rs140424419	no_errors	ENST00000307518	ensembl	human	known	74_37	silent	44.44	25	20	SNP	0.003	T	T	99338347	C	T	99338347	2	4	33	1	0	0	0	0	0	0	0	1	647	639	23	1		1	ANKRD2	10	99338347	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	2843219	99338347	36196400	82	7882											
FAM178A	55719	genome.wustl.edu	37	chr10	102684710	102684710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccaaggggcttagatCtcagtcatcagactatacag	11	12	8	10	0	4	2	3	0	2	2	6	2	5	2	1	2	1	1	1	2	4	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:102684710C>A	ENST00000238961.4	+	5	2494	c.1952C>A	c.(1951-1953)tCt>tAt	p.S651Y	FAM178A_ENST00000370269.3_Missense_Mutation_p.S651Y|FAM178A_ENST00000370271.3_Missense_Mutation_p.S651Y	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	651						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGGCTTAGATCTCAGTCATCA	0.403																																																	0													70	79	76					10																	102684710		2189	4268	6457	SO:0001583	missense	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1952C>A	10.37:g.102684710C>A	ENSP00000238961:p.Ser651Tyr		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.S651Y	ENST00000238961.4	37	c.1952	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393422	0.42410	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.50001	0.76;1.36;1.36	6.03	5.12	0.69794	.	0.909903	0.09477	N	0.796859	T	0.48370	0.1496	N	0.24115	0.695	0.36974	D	0.893981	D;P;P;D	0.59767	0.986;0.904;0.944;0.969	P;P;P;P	0.54100	0.742;0.461;0.461;0.66	T	0.47289	-0.9129	10	0.59425	D	0.04	-0.0239	11.6925	0.51525	0.0:0.919:0.0:0.081	.	300;651;651;651	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	Y	651	ENSP00000359294:S651Y;ENSP00000238961:S651Y;ENSP00000359292:S651Y	ENSP00000238961:S651Y	S	+	2	0	FAM178A	102674700	0.541000	0.26417	0.996000	0.52242	0.981000	0.71138	1.414000	0.34736	2.861000	0.98227	0.655000	0.94253	TCT	FAM178A	-	NULL	ENSG00000119906		0.403	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	-	0	41	0	C			102684710	1	tier1	-	no_errors	ENST00000370269	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.779	A	A	102684710	C	A	102684710	3	1	33	1	0	0	0	0	1	0	0	0	5522	913	32	3	1970	3	FAM178A	10	102684710	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	3346363	102684710	32850037	83	7883											
SH3PXD2A	9644	genome.wustl.edu	37	chr10	105386894	105386894	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcatcccgagtaccatTctgggcctccaggtaggtgg	7	9	14	11	1	2	0	1	0	1	0	4	2	4	1	4	5	1	2	4	5	2	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:105386894T>A	ENST00000369774.4	-	9	946	c.670A>T	c.(670-672)Aat>Tat	p.N224Y	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.N224Y|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.N91Y|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.N86Y|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.N59Y			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	224	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGAGTACCATTCTGGGCCTCC	0.607																																																	0													111	92	99					10																	105386894		2203	4300	6503	SO:0001583	missense	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.670A>T	10.37:g.105386894T>A	ENSP00000358789:p.Asn224Tyr		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.N224Y	ENST00000369774.4	37	c.670		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.54|17.54	3.414371|3.414371	0.62511|0.62511	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T;T	.|0.69806	.|-0.43;1.5;1.5;1.5;1.5	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Src homology-3 domain (3);	.|0.303704	.|0.41500	.|D	.|0.000873	T|T	0.73040|0.73040	0.3536|0.3536	L|L	0.57536|0.57536	1.79|1.79	0.37941|0.37941	D|D	0.932318|0.932318	.|D;P;B;P;D	.|0.57571	.|0.966;0.823;0.12;0.823;0.98	.|P;P;B;P;P	.|0.58721	.|0.702;0.498;0.047;0.498;0.844	T|T	0.78427|0.78427	-0.2208|-0.2208	5|10	.|0.87932	.|D	.|0	-18.5495|-18.5495	8.9119|8.9119	0.35559|0.35559	0.0:0.0846:0.0:0.9154|0.0:0.0846:0.0:0.9154	.|.	.|224;101;86;97;224	.|Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.;.	V|Y	178|86;224;224;59;139;91;59	.|ENSP00000392664:N86Y;ENSP00000358789:N224Y;ENSP00000348215:N224Y;ENSP00000443663:N91Y;ENSP00000441514:N59Y	.|ENSP00000318135:N59Y	E|N	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105376884|105376884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.950000|5.950000	0.70265|0.70265	2.026000|2.026000	0.59711|0.59711	0.459000|0.459000	0.35465|0.35465	GAA|AAT	SH3PXD2A	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000107957		0.607	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	-	0	59	0	T	NM_014631		105386894	-1	tier1	-	no_errors	ENST00000369774	ensembl	human	known	74_37	missense	29.63	38	16	SNP	1.000	A	A	105386894	T	A	105386894	3	1	33	1	0	0	0	0	1	0	0	0	14301	1783	62	5	2671	5	SH3PXD2A	10	105386894	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	2702184	105386894	30147853	84	7884											
OR52E8	390079	genome.wustl.edu	37	chr11	5878458	5878458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaacaaccatgtacaGgctcctcaggacagcaatgc	13	6	10	12	0	1	0	1	0	0	0	2	2	2	2	2	3	5	3	2	3	4	1	rs549924845	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:5878458G>A	ENST00000537935.1	-	1	506	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATGTACAGGCTCCTCAGG	0.507													G|||	10	0.00199681	0.0068	0	5008	,	,		18808	0		0	False		,,,				2504	0.001																0													135	147	143					11																	5878458		2154	4296	6450	SO:0001819	synonymous_variant	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.475C>T	11.37:g.5878458G>A			B9EH38	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L159	ENST00000537935.1	37	c.475	CCDS31400.1	11																																																																																			OR52E8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183269		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	HGNC	protein_coding	OTTHUMT00000401145.1		0	39	0	G	NM_001005168		5878458	-1			no_errors	ENST00000537935	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.000	A	A	5878458	G	A	5878458	2	1	33	1	0	0	0	0	0	0	0	1	11157	991	35	3		3	OR52E8	11	5878458	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		5878458	129128058	85	7885											
PPFIBP2	8495	genome.wustl.edu	37	chr11	7618827	7618827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaagtagaagcccagggaGaaaagattcgagacctggaa	17	4	12	8	1	0	4	0	0	0	4	1	7	0	5	3	2	1	1	3	2	6	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:7618827G>A	ENST00000299492.4	+	5	797	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.E25K|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	137					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGCCCAGGGAGAAAAGATTCG	0.522																																																	0													74	68	70					11																	7618827		2201	4296	6497	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.409G>A	11.37:g.7618827G>A	ENSP00000299492:p.Glu137Lys		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E137K	ENST00000299492.4	37	c.409	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.565807	0.96540	.	.	ENSG00000166387	ENST00000299492;ENST00000527790;ENST00000541115;ENST00000528883	T;T;T	0.51325	0.71;0.71;0.71	5.5	5.5	0.81552	.	0.172294	0.39759	N	0.001266	T	0.66086	0.2754	M	0.72353	2.195	0.80722	D	1	P;P;D;D	0.61697	0.895;0.872;0.99;0.983	P;B;P;P	0.61800	0.573;0.22;0.894;0.787	T	0.68988	-0.5264	10	0.72032	D	0.01	-22.0572	16.8778	0.86056	0.0:0.0:1.0:0.0	.	25;25;60;137	E9PK77;B7Z433;F5GWB0;Q8ND30	.;.;.;LIPB2_HUMAN	K	137;137;60;25	ENSP00000299492:E137K;ENSP00000434981:E137K;ENSP00000435469:E25K	ENSP00000299492:E137K	E	+	1	0	PPFIBP2	7575403	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.464000	0.97655	2.600000	0.87896	0.655000	0.94253	GAA	PPFIBP2	-	NULL	ENSG00000166387		0.522	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	-	0	55	0	G	NM_003621		7618827	1	tier1	-	no_errors	ENST00000299492	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A	A	7618827	G	A	7618827	3	1	33	1	0	0	0	0	1	0	0	0	12353	943	33	3	423	3	PPFIBP2	11	7618827	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	1740369	7618827	127387689	86	7886											
PLEKHA7	144100	genome.wustl.edu	37	chr11	16872792	16872792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccacaggagagatcacGtagctgggcaaggggatgct	10	5	18	8	1	1	1	1	0	0	1	1	4	1	3	1	6	2	4	1	6	2	1	rs367816429		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:16872792G>A	ENST00000355661.3	-	8	652	c.642C>T	c.(640-642)taC>taT	p.Y214Y	PLEKHA7_ENST00000448080.2_Silent_p.Y214Y|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.Y214Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	214	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GAGAGATCACGTAGCTGGGCA	0.522																																																	0								G		1,4399	2.1+/-5.4	0,1,2199	112	103	106		642	-6	0.8	11		106	0,8588		0,0,4294	no	coding-synonymous	PLEKHA7	NM_175058.4		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		214/1122	16872792	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	0			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.642C>T	11.37:g.16872792G>A			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.Y214	ENST00000355661.3	37	c.642	CCDS31434.1	11																																																																																			PLEKHA7	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000166689		0.522	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	-	0	53	0	G	NM_175058		16872792	-1	tier1	-	no_errors	ENST00000448080	ensembl	human	known	74_37	silent	28.21	28	11	SNP	0.971	A	A	16872792	G	A	16872792	2	1	33	1	0	0	0	0	0	0	0	1	12100	1140	40	1		1	PLEKHA7	11	16872792	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	9253965	16872792	118133724	87	7887											
PEX16	9409	genome.wustl.edu	37	chr11	45936188	45936188	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaccacccggtttgaccGcttccccacgtaggactgct	6	9	9	17	4	0	1	0	1	0	0	2	2	1	2	5	2	1	5	5	2	1	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:45936188G>T	ENST00000378750.5	-	6	751	c.508C>A	c.(508-510)Cgg>Agg	p.R170R	PEX16_ENST00000532681.1_Silent_p.R75R|PEX16_ENST00000241041.3_Silent_p.R170R|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	170					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CGGTTTGACCGCTTCCCCACG	0.592																																																	0													182	145	158					11																	45936188		2203	4299	6502	SO:0001819	synonymous_variant	0			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.508C>A	11.37:g.45936188G>T			Q9BWB9	Silent	SNP	pfam_Pex16	p.R170	ENST00000378750.5	37	c.508	CCDS31472.1	11																																																																																			PEX16	-	pfam_Pex16	ENSG00000121680		0.592	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX16	HGNC	protein_coding	OTTHUMT00000392398.1	-	0	41	0	G	NM_057174		45936188	-1	tier1	-	no_errors	ENST00000241041	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	45936188	G	T	45936188	2	4	33	1	0	0	0	0	0	0	0	1	11782	1086	38	2		2	PEX16	11	45936188	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	29063396	45936188	89070328	88	7888											
OR4A47	403253	genome.wustl.edu	37	chr11	48510440	48510440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgttatgttcttgctcttCtacattttgaccatggtggg	5	20	9	7	0	3	1	0	1	3	0	3	1	3	1	1	2	2	3	1	2	2	8			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:48510440C>G	ENST00000446524.1	+	1	172	c.96C>G	c.(94-96)ttC>ttG	p.F32L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTTGCTCTTCTACATTTTGA	0.438																																																	0													35	33	33					11																	48510440		2200	4278	6478	SO:0001583	missense	0			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.96C>G	11.37:g.48510440C>G	ENSP00000412752:p.Phe32Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F32L	ENST00000446524.1	37	c.96	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	6.283	0.420259	0.11928	.	.	ENSG00000237388	ENST00000446524	T	0.00625	6.14	4.91	2.95	0.34219	.	0.515052	0.17653	N	0.166624	T	0.00412	0.0013	N	0.05177	-0.1	0.26906	N	0.967016	B	0.23128	0.08	B	0.20767	0.031	T	0.43228	-0.9404	10	0.17832	T	0.49	.	7.7661	0.28980	0.1604:0.7512:0.0:0.0884	.	32	Q6IF82	O4A47_HUMAN	L	32	ENSP00000412752:F32L	ENSP00000412752:F32L	F	+	3	2	OR4A47	48467016	0.000000	0.05858	0.021000	0.16686	0.053000	0.15095	-1.819000	0.01716	1.056000	0.40484	0.561000	0.74099	TTC	OR4A47	-	prints_GPCR_Rhodpsn	ENSG00000237388		0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	-	0	92	0	C	NM_001005512		48510440	1	tier1	-	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	10.00	63	7	SNP	0.803	G	G	48510440	C	G	48510440	3	3	33	1	0	0	0	0	1	0	0	0	11081	912	32	5	98	5	OR4A47	11	48510440	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	2574252	48510440	86496076	89	7889											
OR4A15	81328	genome.wustl.edu	37	chr11	55135831	55135831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatggccatctgtaagcctCttcatgaattgatcaccatg	11	12	7	11	0	4	2	2	2	2	0	4	2	4	2	3	1	1	1	3	1	2	3	rs151248769		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:55135831C>G	ENST00000314706.3	+	1	472	c.472C>G	c.(472-474)Ctt>Gtt	p.L158V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTGTAAGCCTCTTCATGAATT	0.418																																																	0													218	200	206					11																	55135831		2201	4296	6497	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.472C>G	11.37:g.55135831C>G	ENSP00000325065:p.Leu158Val		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L158V	ENST00000314706.3	37	c.472	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	c	10.49	1.364295	0.24684	.	.	ENSG00000181958	ENST00000314706	T	0.01484	4.84	3.48	0.406	0.16366	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000841	T	0.13798	0.0334	H	0.97983	4.12	0.09310	N	0.999996	D	0.76494	0.999	D	0.72338	0.977	T	0.05699	-1.0869	10	0.87932	D	0	.	6.4465	0.21879	0.0:0.5438:0.0:0.4562	.	158	Q8NGL6	O4A15_HUMAN	V	158	ENSP00000325065:L158V	ENSP00000325065:L158V	L	+	1	0	OR4A15	54892407	0.016000	0.18221	0.019000	0.16419	0.283000	0.27025	0.223000	0.17719	0.197000	0.20387	0.492000	0.49549	CTT	OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181958		0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0	114	0	C	NM_001005275		55135831	1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	14.73	110	19	SNP	0.228	G	G	55135831	C	G	55135831	3	3	33	1	0	0	0	0	1	0	0	0	11079	913	32	5	474	5	OR4A15	11	55135831	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	6625391	55135831	79870685	90	7890											
OR8I2	120586	genome.wustl.edu	37	chr11	55860877	55860877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtcttttcttgatgtttCtcttcatttatctattcact	6	23	3	9	0	7	1	3	1	4	0	8	1	7	1	0	0	0	1	0	0	2	9			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:55860877C>G	ENST00000302124.2	+	1	125	c.94C>G	c.(94-96)Ctc>Gtc	p.L32V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32I(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTTGATGTTTCTCTTCATTTA	0.403																																																	1	Substitution - Missense(1)	lung(1)											200	193	196					11																	55860877		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.94C>G	11.37:g.55860877C>G	ENSP00000303864:p.Leu32Val		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L32V	ENST00000302124.2	37	c.94	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667926	0.14710	.	.	ENSG00000172154	ENST00000302124	T	0.01902	4.57	4.5	3.58	0.41010	.	0.000000	0.35772	U	0.002997	T	0.15478	0.0373	M	0.93197	3.39	0.34366	D	0.691524	D	0.76494	0.999	D	0.67103	0.949	T	0.34725	-0.9817	10	0.72032	D	0.01	-9.3139	11.3536	0.49602	0.0:0.9083:0.0:0.0917	.	32	Q8N0Y5	OR8I2_HUMAN	V	32	ENSP00000303864:L32V	ENSP00000303864:L32V	L	+	1	0	OR8I2	55617453	0.272000	0.24172	0.058000	0.19502	0.007000	0.05969	0.859000	0.27858	1.025000	0.39708	0.440000	0.28878	CTC	OR8I2	-	prints_GPCR_Rhodpsn	ENSG00000172154		0.403	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		-	0	112	0	C	NM_001003750		55860877	1	tier1	-	no_errors	ENST00000302124	ensembl	human	known	74_37	missense	34.41	61	32	SNP	0.958	G	G	55860877	C	G	55860877	3	3	33	1	0	0	0	0	1	0	0	0	11279	913	32	5	96	5	OR8I2	11	55860877	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	725046	55860877	79145639	91	7891											
SDHAF2	54949	genome.wustl.edu	37	chr11	61213450	61213450	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaatatttgaaaatgaagtCatggccctgctgagagactt	14	11	10	6	0	1	4	1	3	0	1	1	6	1	4	1	1	1	1	1	1	5	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:61213450C>G	ENST00000542074.1	+	2	116	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RN7SL23P_ENST00000484055.2_RNA|SDHAF2_ENST00000537782.1_3'UTR|SDHAF2_ENST00000301761.2_Silent_p.V136V|RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000543265.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Silent_p.V124V					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						AAAATGAAGTCATGGCCCTGC	0.438											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86	86	86					11																	61213450		2202	4299	6501	SO:0001587	stop_gained	0			AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"Mitochondrial respiratory chain complex assembly factors"	26034	protein-coding gene	gene with protein product		613019	"paraganglioma or familial glomus tumors 2", "chromosome 11 open reading frame 79"	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000542074.1:c.74C>G	11.37:g.61213450C>G	ENSP00000469670:p.Ser25*	1052		Nonsense_Mutation	SNP	NULL	p.S25*	ENST00000542074.1	37	c.74		11																																																																																			SDHAF2	-	NULL	ENSG00000167985		0.438	SDHAF2-006	PUTATIVE	basic|exp_conf	protein_coding	SDHAF2	HGNC	protein_coding	OTTHUMT00000398439.2	-	0	61	0	C	NM_017841		61213450	1	tier1	-	no_errors	ENST00000542074	ensembl	human	putative	74_37	nonsense	29.85	47	20	SNP	1.000	G	G	61213450	C	G	61213450	4	3	33	1	0	0	0	0	0	1	0	0	14009	813	29	5	422	5	SDHAF2	11	61213450	Nonsense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	5352573	61213450	73793066	92	7892											
SPTBN2	6712	genome.wustl.edu	37	chr11	66455366	66455367	+	Frame_Shift_Del	DEL	AA	AA	-																															tcggggaagctgctgtgctcAagtctctgttgtcccagcag																										TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:66455366_66455367delAA	ENST00000533211.1	-	34	6804_6805	c.6473_6474delTT	c.(6472-6474)cttfs	p.L2158fs	SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.L2158fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.L2158fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2158					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGTGCTCAAGTCTCTGTTG	0.609																																																	0																																										SO:0001589	frameshift_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6473_6474delTT	11.37:g.66455366_66455367delAA	ENSP00000432568:p.Leu2158fs		O14872|O14873	Frame_Shift_Del	DEL	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L2158fs	ENST00000533211.1	37	c.6474_6473	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000173898		0.609	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2		0	49	0	AA	NM_006946		66455367	-1	tier1		no_errors	ENST00000309996	ensembl	human	known	74_37	frame_shift_del	31.03	20	9	DEL	0.314:0.930	-	-	66455367	AA	-	66455366	7	5	33	1	0	1	0	1	0	0	0	0	15167	117	5	0	718	0	SPTBN2	11	66455366	Frame_Shift_Del	DEL	AA	TCGA-IG-A97I-01A-11D-A387-09	5241916	66455366	68551150	93	7893											
FAT3	120114	genome.wustl.edu	37	chr11	92085866	92085866	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggagaattctactactaCtttaaaaataaagttgatct	17	14	5	5	0	2	2	0	1	2	1	2	3	2	2	0	1	3	1	0	1	10	8			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:92085866C>A	ENST00000298047.6	+	1	605	c.588C>A	c.(586-588)taC>taA	p.Y196*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y46*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.Y196*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y196*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTACTACTACTTTAAAAATA	0.403										TCGA Ovarian(4;0.039)																																							0													55	54	54					11																	92085866		1841	4097	5938	SO:0001587	stop_gained	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.588C>A	11.37:g.92085866C>A	ENSP00000298047:p.Tyr196*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Y196*	ENST00000298047.6	37	c.588		11	.	.	.	.	.	.	.	.	.	.	C	36	5.902803	0.97087	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.26	2.4	0.29515	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1231	0.30982	0.0:0.683:0.0:0.317	.	.	.	.	X	196;196;196;46	.	ENSP00000298047:Y196X	Y	+	3	2	FAT3	91725514	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.622000	0.36997	0.317000	0.23160	-0.137000	0.14449	TAC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.403	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	45	0	C	NM_001008781		92085866	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	nonsense	36.36	14	8	SNP	1.000	A	A	92085866	C	A	92085866	4	1	33	1	0	0	0	0	0	1	0	0	5713	576	20	3	590	3	FAT3	11	92085866	Nonsense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	25630500	92085866	42920650	94	7894											
CASP5	838	genome.wustl.edu	37	chr11	104879616	104879616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgttgttctttagcatGtggtttatcacgaagttatc	8	16	9	8	2	2	0	1	0	1	0	3	1	2	0	1	1	1	5	1	1	4	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:104879616G>T	ENST00000260315.3	-	2	98	c.99C>A	c.(97-99)caC>caA	p.H33Q	CASP5_ENST00000526056.1_Missense_Mutation_p.H46Q|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.H46Q			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	33					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCTTTAGCATGTGGTTTATCA	0.378																																																	0													156	143	147					11																	104879616		2202	4299	6501	SO:0001583	missense	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.99C>A	11.37:g.104879616G>T	ENSP00000260315:p.His33Gln		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.H46Q	ENST00000260315.3	37	c.138	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153663	0.06585	.	.	ENSG00000137757	ENST00000393141;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T	0.15372	4.49;4.53;4.49;2.43	0.936	-1.87	0.07737	.	.	.	.	.	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.0;0.002	T	0.31641	-0.9936	9	0.87932	D	0	.	1.8576	0.03182	0.2778:0.0:0.3268:0.3954	.	33;46	P51878;P51878-5	CASP5_HUMAN;.	Q	46;33;46;17	ENSP00000376849:H46Q;ENSP00000260315:H33Q;ENSP00000436877:H46Q;ENSP00000415241:H17Q	ENSP00000260315:H33Q	H	-	3	2	CASP5	104384826	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.331000	0.07914	-0.934000	0.03733	-1.069000	0.02264	CAC	CASP5	-	NULL	ENSG00000137757		0.378	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0	95	0	G	NM_004347		104879616	-1			no_errors	ENST00000393141	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	104879616	G	T	104879616	3	4	33	1	0	0	0	0	1	0	0	0	2681	1368	48	3	1237	3	CASP5	11	104879616	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	12793750	104879616	30126900	95	7895											
GRAMD1B	57476	genome.wustl.edu	37	chr11	123465506	123465506	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctacctctctgaaaattGgatctgcttctacagcaaca	12	12	5	12	0	4	1	0	1	4	0	5	2	4	2	1	1	5	2	1	1	5	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:123465506G>A	ENST00000529750.1	+	5	731	c.404G>A	c.(403-405)tGg>tAg	p.W135*	GRAMD1B_ENST00000456860.2_Nonsense_Mutation_p.W142*|GRAMD1B_ENST00000322282.7_Nonsense_Mutation_p.W135*	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	135	GRAM.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCTGAAAATTGGATCTGCTTC	0.542																																																	0													116	114	114					11																	123465506		1995	4183	6178	SO:0001587	stop_gained	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.404G>A	11.37:g.123465506G>A	ENSP00000436500:p.Trp135*		Q6UW85|Q9ULL9	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.W135*	ENST00000529750.1	37	c.404	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.231483	0.98717	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	.	.	.	5.47	5.47	0.80525	.	0.123692	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3361	0.94319	0.0:0.0:1.0:0.0	.	.	.	.	X	142;142;135;135;95;131	.	ENSP00000325628:W135X	W	+	2	0	GRAMD1B	122970716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.555000	0.86185	0.551000	0.68910	TGG	GRAMD1B	-	pfam_GRAM,smart_GRAM	ENSG00000023171		0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0	44	0	G	XM_370660		123465506	1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	nonsense	51.61	15	16	SNP	1.000	A	A	123465506	G	A	123465506	4	1	33	1	0	0	0	0	0	1	0	0	6775	1357	47	3	422	3	GRAMD1B	11	123465506	Nonsense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	18585890	123465506	11541010	96	7896											
OR6X1	390260	genome.wustl.edu	37	chr11	123624707	123624707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaacatcacagtagaaatGactgataacattattgccac	16	9	5	11	0	1	3	1	2	0	1	1	3	1	3	2	0	3	1	2	0	5	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:123624707G>C	ENST00000327930.2	-	1	546	c.520C>G	c.(520-522)Cat>Gat	p.H174D		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGTAGAAATGACTGATAACA	0.517																																																	0													92	93	93					11																	123624707		2202	4299	6501	SO:0001583	missense	0			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.520C>G	11.37:g.123624707G>C	ENSP00000333724:p.His174Asp		B9EGW9|Q6IFA0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H174D	ENST00000327930.2	37	c.520	CCDS31695.1	11	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427227	0.62733	.	.	ENSG00000221931	ENST00000327930	T	0.00174	8.62	4.37	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.92459	3.31	0.35537	D	0.802754	D	0.69078	0.997	D	0.64776	0.929	T	0.56890	-0.7904	9	0.87932	D	0	-2.5448	8.451	0.32871	0.1928:0.0:0.8072:0.0	.	174	Q8NH79	OR6X1_HUMAN	D	174	ENSP00000333724:H174D	ENSP00000333724:H174D	H	-	1	0	OR6X1	123129917	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.288000	0.51739	0.491000	0.27793	0.650000	0.86243	CAT	OR6X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000221931		0.517	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	HGNC	protein_coding	OTTHUMT00000387436.1	-	0	37	0	G	NM_001005188		123624707	-1	tier1	-	no_errors	ENST00000327930	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.984	C	C	123624707	G	C	123624707	3	2	33	1	0	0	0	0	1	0	0	0	11251	1290	45	5	420	5	OR6X1	11	123624707	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	159201	123624707	11381809	97	7897											
KCNA5	3741	genome.wustl.edu	37	chr12	5154277	5154277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcccaggaccctggccGaccccttcttcatcgtggag	5	9	10	17	2	2	0	1	0	1	0	4	3	3	2	6	3	1	0	6	3	0	2	rs139614200		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:5154277G>A	ENST00000252321.3	+	1	1193	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	322					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GACCCTGGCCGACCCCTTCTT	0.701																																																	0													61	59	60					12																	5154277		2203	4300	6503	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.964G>A	12.37:g.5154277G>A	ENSP00000252321:p.Asp322Asn		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.D322N	ENST00000252321.3	37	c.964	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990334	0.74589	.	.	ENSG00000130037	ENST00000252321	D	0.97404	-4.37	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.88241	2.94	0.80722	D	1	P	0.37352	0.591	B	0.34180	0.177	D	0.97580	1.0110	10	0.54805	T	0.06	.	16.9696	0.86295	0.0:0.0:1.0:0.0	.	322	P22460	KCNA5_HUMAN	N	322	ENSP00000252321:D322N	ENSP00000252321:D322N	D	+	1	0	KCNA5	5024538	1.000000	0.71417	0.822000	0.32727	0.939000	0.58152	9.576000	0.98192	2.478000	0.83669	0.561000	0.74099	GAC	KCNA5	-	NULL	ENSG00000130037		0.701	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2		0	30	0	G	NM_002234		5154277	1			no_errors	ENST00000252321	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.998	A	A	5154277	G	A	5154277	3	1	33	1	0	0	0	0	1	0	0	0	8033	1058	37	1	966	1	KCNA5	12	5154277	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		5154277	128697618	98	7898											
CHD4	1108	genome.wustl.edu	37	chr12	6682395	6682395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgttcaagtaagcagccCggcgcagctgttcctcaatc	10	9	9	13	2	2	0	2	0	0	0	4	0	3	0	2	1	3	6	2	1	3	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:6682395C>T	ENST00000357008.2	-	38	5565	c.5402G>A	c.(5401-5403)cGg>cAg	p.R1801Q	CHD4_ENST00000544040.1_Missense_Mutation_p.R1794Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1826Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R1829Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1801	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1801L(1)|p.R1829L(1)		central_nervous_system(2)	2						GTAAGCAGCCCGGCGCAGCTG	0.512																																					Colon(32;586 792 4568 16848 45314)												2	Substitution - Missense(2)	kidney(2)											81	82	81					12																	6682395		2203	4300	6503	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5402G>A	12.37:g.6682395C>T	ENSP00000349508:p.Arg1801Gln		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1829Q	ENST00000357008.2	37	c.5486	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.846021	0.97016	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94417	-3.42;-3.3;-3.41;-3.31	5.71	5.71	0.89125	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.97508	0.9184	M	0.82517	2.595	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.994	D;D;P	0.79108	0.975;0.992;0.886	D	0.97797	1.0242	10	0.87932	D	0	-5.2311	19.8531	0.96747	0.0:1.0:0.0:0.0	.	1829;1801;1794	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1826;1794;1829;1801;1775	ENSP00000440392:R1826Q;ENSP00000440542:R1794Q;ENSP00000312419:R1829Q;ENSP00000349508:R1801Q	ENSP00000312419:R1829Q	R	-	2	0	CHD4	6552656	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.792000	0.85828	2.689000	0.91719	0.561000	0.74099	CGG	CHD4	-	pfam_CHD_C2	ENSG00000111642		0.512	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		-	0	54	0	C	NM_001273		6682395	-1	tier1	-	no_errors	ENST00000309577	ensembl	human	known	74_37	missense	39.29	34	22	SNP	1.000	T	T	6682395	C	T	6682395	3	4	33	1	0	0	0	0	1	0	0	0	3334	652	23	1	348	1	CHD4	12	6682395	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	1528118	6682395	127169500	99	7899											
PHB2	11331	genome.wustl.edu	37	chr12	7076914	7076914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgctttttctaccaaGaattgggcccgctgggcctc	5	14	10	12	1	1	1	0	0	1	1	2	1	1	1	3	2	3	3	3	2	3	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:7076914G>T	ENST00000535923.1	-	6	917	c.636C>A	c.(634-636)ttC>ttA	p.F212L	PHB2_ENST00000542912.1_Missense_Mutation_p.F212L|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'Flank|U47924.29_ENST00000606539.1_RNA|PHB2_ENST00000399433.2_Missense_Mutation_p.F212L|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Intron	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						TTTCTACCAAGAATTGGGCCC	0.587																																																	0													115	124	121					12																	7076914		1912	4119	6031	SO:0001583	missense	0			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.636C>A	12.37:g.7076914G>T	ENSP00000441875:p.Phe212Leu			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.F212L	ENST00000535923.1	37	c.636	CCDS53741.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111884	0.77210	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000545167	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.6	1.55	0.23275	.	0.000000	0.85682	U	0.000000	D	0.96439	0.8838	M	0.89904	3.07	0.80722	D	1	D	0.57899	0.981	P	0.60286	0.872	D	0.95132	0.8256	10	0.87932	D	0	-13.4336	7.7512	0.28898	0.3607:0.0:0.6393:0.0	.	212	Q99623	PHB2_HUMAN	L	212;212;212;248	ENSP00000441875:F212L;ENSP00000440317:F212L;ENSP00000382362:F212L;ENSP00000441662:F248L	ENSP00000382362:F212L	F	-	3	2	PHB2	6947175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.536000	0.23129	0.492000	0.27815	0.655000	0.94253	TTC	PHB2	-	pfam_Band_7,prints_Prohibitin	ENSG00000215021		0.587	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	HGNC	protein_coding	OTTHUMT00000400040.3	-	0	24	0	G	NM_007273		7076914	-1	tier1	-	no_errors	ENST00000399433	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	7076914	G	T	7076914	3	4	33	1	0	0	0	0	1	0	0	0	11854	933	33	3	279	3	PHB2	12	7076914	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	394519	7076914	126774981	100	7900											
SYT10	341359	genome.wustl.edu	37	chr12	33579301	33579301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctctgtggaagcgtaGtgatgttggaagtcacaggt	11	11	14	5	1	2	1	1	1	1	0	2	3	2	3	0	3	2	3	0	3	4	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:33579301G>C	ENST00000228567.3	-	2	577	c.281C>G	c.(280-282)aCt>aGt	p.T94S	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	94					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGGAAGCGTAGTGATGTTGGA	0.423																																																	0													91	90	90					12																	33579301		2203	4300	6503	SO:0001583	missense	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.281C>G	12.37:g.33579301G>C	ENSP00000228567:p.Thr94Ser		Q495U2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.T94S	ENST00000228567.3	37	c.281	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.471174	0.00167	.	.	ENSG00000110975	ENST00000228567	T	0.44083	0.93	4.1	-2.4	0.06583	.	0.459403	0.18019	N	0.154304	T	0.11665	0.0284	N	0.02315	-0.6	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	10	0.02654	T	1	.	6.502	0.22174	0.0:0.3531:0.4103:0.2366	.	94	Q6XYQ8	SYT10_HUMAN	S	94	ENSP00000228567:T94S	ENSP00000228567:T94S	T	-	2	0	SYT10	33470568	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.030000	0.12308	-0.492000	0.06687	-0.147000	0.13772	ACT	SYT10	-	NULL	ENSG00000110975		0.423	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	-	0	80	0	G	NM_198992		33579301	-1	tier1	-	no_errors	ENST00000228567	ensembl	human	known	74_37	missense	26.92	57	21	SNP	0.001	C	C	33579301	G	C	33579301	3	2	33	1	0	0	0	0	1	0	0	0	15513	1029	36	5	1314	5	SYT10	12	33579301	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	26502387	33579301	100272594	101	7901											
KRT6A	3853	genome.wustl.edu	37	chr12	52884517	52884517	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtctgcatctgggacagctCctgcagaacagaaggtcata	11	8	12	10	0	3	2	1	0	2	2	4	3	4	3	1	3	4	3	1	3	3	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:52884517C>G	ENST00000330722.6	-	5	981	c.913G>C	c.(913-915)Gag>Cag	p.E305Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	305	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGACAGCTCCTGCAGAACA	0.493																																																	0													124	114	118					12																	52884517		2203	4300	6503	SO:0001630	splice_region_variant	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.913-1G>C	12.37:g.52884517C>G			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E305Q	ENST00000330722.6	37	c.913	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	c	28.3	4.909316	0.92107	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.96265	-3.96	5.25	5.25	0.73442	Filament (1);	0.000000	0.56097	D	0.000024	D	0.98940	0.9640	H	0.97540	4.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99338	1.0911	10	0.87932	D	0	.	19.2897	0.94093	0.0:1.0:0.0:0.0	.	305	P02538	K2C6A_HUMAN	Q	305;261	ENSP00000369317:E305Q	ENSP00000369317:E305Q	E	-	1	0	KRT6A	51170784	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	7.700000	0.84556	2.647000	0.89833	0.556000	0.70494	GAG	KRT6A	-	pfam_IF,superfamily_Prefoldin	ENSG00000205420		0.493	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0	200	0	C	NM_005554	Missense_Mutation	52884517	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	7.02	159	12	SNP	1.000	G	G	52884517	C	G	52884517	5	3	33	1	0	0	0	0	0	0	1	0	8507	869	30	5	801	5	KRT6A	12	52884517	Splice_Site	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	19305216	52884517	80967378	102	7902											
ATP5G2	517	genome.wustl.edu	37	chr12	54063706	54063706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accactgcagatagcggacgGctcagcagctgtgaggtgct	9	7	14	11	2	1	2	1	1	0	1	1	3	1	3	1	3	5	5	1	3	1	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:54063706G>A	ENST00000549164.1	-	3	253	c.66C>T	c.(64-66)agC>agT	p.S22S	ATP5G2_ENST00000338662.5_Silent_p.S38S|ATP5G2_ENST00000602871.1_Silent_p.S22S|ATP5G2_ENST00000394349.3_Silent_p.S79S|ATP5G2_ENST00000550241.1_5'Flank			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	22					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						ATAGCGGACGGCTCAGCAGCT	0.542																																																	0													127	103	111					12																	54063706		2203	4300	6503	SO:0001819	synonymous_variant	0			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	842	protein-coding gene	gene with protein product		603193	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.66C>T	12.37:g.54063706G>A			B3KQQ6	Silent	SNP	pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu	p.S79	ENST00000549164.1	37	c.237		12																																																																																			ATP5G2	-	NULL	ENSG00000135390		0.542	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	ATP5G2	HGNC	protein_coding	OTTHUMT00000407403.1	-	0	52	0	G	NM_005176		54063706	-1	tier1	-	no_errors	ENST00000394349	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.997	A	A	54063706	G	A	54063706	2	1	33	1	0	0	0	0	0	0	0	1	1155	1194	42	3		3	ATP5G2	12	54063706	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	1179189	54063706	79788189	103	7903											
HOXC9	3225	genome.wustl.edu	37	chr12	54394503	54394503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggagaaggccgacctGgaccccagtaagttgggagc	13	4	15	9	1	0	2	0	0	0	2	0	6	0	4	4	4	1	2	4	4	3	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:54394503G>A	ENST00000303450.4	+	1	601	c.531G>A	c.(529-531)ctG>ctA	p.L177L	HOXC9_ENST00000508190.1_Silent_p.L177L|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	177					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGGCCGACCTGGACCCCAGTA	0.697																																																	0													6	7	7					12																	54394503		1560	3340	4900	SO:0001819	synonymous_variant	0				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.531G>A	12.37:g.54394503G>A			B2RCN7|Q9H1I0	Silent	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L177	ENST00000303450.4	37	c.531	CCDS8869.1	12																																																																																			HOXC9	-	pfam_Hox9_activation_N,superfamily_Homeodomain-like,pirsf_Homeobox_Hox9	ENSG00000180806		0.697	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	-	0	22	0	G			54394503	1	tier1	-	no_errors	ENST00000303450	ensembl	human	known	74_37	silent	26.32	14	5	SNP	1.000	A	A	54394503	G	A	54394503	2	1	33	1	0	0	0	0	0	0	0	1	7344	1335	47	3		3	HOXC9	12	54394503	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	330797	54394503	79457392	104	7904											
DGKA	1606	genome.wustl.edu	37	chr12	56334726	56334726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaacaagccagaagaccAtggatgatttaaatttgagc	17	8	9	7	0	0	4	0	2	0	2	0	5	0	5	2	1	3	1	2	1	6	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:56334726A>G	ENST00000331886.5	+	13	1517	c.1063A>G	c.(1063-1065)Atg>Gtg	p.M355V	DGKA_ENST00000394147.1_Missense_Mutation_p.M355V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.M355V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	355					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCAGAAGACCATGGATGATTT	0.498											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66	65	65					12																	56334726		2203	4300	6503	SO:0001583	missense	0			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"EF-hand domain containing"	2849	protein-coding gene	gene with protein product		125855	"diacylglycerol kinase, alpha (80kD)"	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1063A>G	12.37:g.56334726A>G	ENSP00000328405:p.Met355Val	1014	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.M355V	ENST00000331886.5	37	c.1063	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	A	8.978	0.974566	0.18736	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.86230	-1.87;-2.09;-1.87;-1.87	5.34	-10.7	0.00240	.	2.549290	0.00855	N	0.001871	T	0.71508	0.3348	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60063	-0.7336	10	0.30078	T	0.28	.	6.8302	0.23905	0.2231:0.0:0.3997:0.3772	.	274;355	G3V4E1;P23743	.;DGKA_HUMAN	V	355;274;355;355	ENSP00000328405:M355V;ENSP00000451743:M274V;ENSP00000377703:M355V;ENSP00000450359:M355V	ENSP00000328405:M355V	M	+	1	0	DGKA	54620993	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-1.742000	0.01835	-2.370000	0.00602	-0.336000	0.08194	ATG	DGKA	-	NULL	ENSG00000065357		0.498	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	-	0	48	0	A			56334726	1	tier1	-	no_errors	ENST00000331886	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.000	G	G	56334726	A	G	56334726	3	3	33	1	0	0	0	0	1	0	0	0	4479	217	8	4	1109	4	DGKA	12	56334726	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	1940223	56334726	77517169	105	7905											
FAM119B	25895	genome.wustl.edu	37	chr12	58174146	58174146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgcgtgccttgtcctGggggattgaccatcatgtct	5	12	13	11	1	2	1	1	1	1	0	3	2	3	2	4	3	2	0	4	3	0	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:58174146G>T	ENST00000300209.8	+	3	523	c.398G>T	c.(397-399)tGg>tTg	p.W133L	METTL21B_ENST00000551420.1_5'UTR|METTL21B_ENST00000548256.1_3'UTR|TSFM_ENST00000350762.5_5'Flank|METTL21B_ENST00000333012.5_3'UTR|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000543727.1_5'Flank|TSFM_ENST00000540550.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000548851.1_5'Flank|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	133						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GCCTTGTCCTGGGGGATTGAC	0.607																																																	0													127	96	106					12																	58174146		2203	4300	6503	SO:0001583	missense	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"family with sequence similarity 119, member B"	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.398G>T	12.37:g.58174146G>T	ENSP00000300209:p.Trp133Leu		Q9H749|Q9Y3W2	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.W133L	ENST00000300209.8	37	c.398	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514771	0.85389	.	.	ENSG00000123427	ENST00000300209	T	0.37235	1.21	5.21	4.32	0.51571	.	0.066071	0.64402	D	0.000004	T	0.64527	0.2606	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71371	-0.4613	10	0.87932	D	0	.	12.4341	0.55590	0.0834:0.0:0.9166:0.0	.	133	Q96AZ1	MT21B_HUMAN	L	133	ENSP00000300209:W133L	ENSP00000300209:W133L	W	+	2	0	METTL21B	56460413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.631000	0.90991	1.179000	0.42884	0.563000	0.77884	TGG	METTL21B	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000123427		0.607	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	HGNC	protein_coding	OTTHUMT00000409268.1	-	0	66	0	G	NM_015433		58174146	1	tier1	-	no_errors	ENST00000300209	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	58174146	G	T	58174146	3	4	33	1	0	0	0	0	1	0	0	0	5433	1357	47	3	551	3	FAM119B	12	58174146	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	1839420	58174146	75677749	106	7906											
HSP90B1	7184	genome.wustl.edu	37	chr12	104337535	104337535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattgaaaaggctgtggtgtCtcagcgcctgacagaatctc	10	10	12	9	1	2	3	1	2	2	1	4	4	2	3	1	2	1	1	1	2	3	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:104337535C>G	ENST00000299767.5	+	14	2092	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	637					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCTGTGGTGTCTCAGCGCCTG	0.448																																																	0													101	91	94					12																	104337535		2203	4300	6503	SO:0001583	missense	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1910C>G	12.37:g.104337535C>G	ENSP00000299767:p.Ser637Cys		Q96A97	Missense_Mutation	SNP	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.S637C	ENST00000299767.5	37	c.1910	CCDS9094.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650590	0.87958	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.56941	0.43	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90625	0.4562	10	0.87932	D	0	.	19.961	0.97250	0.0:1.0:0.0:0.0	.	637	P14625	ENPL_HUMAN	C	637;387	ENSP00000299767:S637C	ENSP00000299767:S637C	S	+	2	0	HSP90B1	102861665	1.000000	0.71417	0.303000	0.25071	0.990000	0.78478	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	TCT	HSP90B1	-	pirsf_Hsp90_fam,pfam_Hsp90_fam	ENSG00000166598		0.448	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1	-	0	87	0	C	NM_003299		104337535	1	tier1	-	no_errors	ENST00000299767	ensembl	human	known	74_37	missense	11.96	81	11	SNP	1.000	G	G	104337535	C	G	104337535	3	3	33	1	0	0	0	0	1	0	0	0	7430	913	32	5	1964	5	HSP90B1	12	104337535	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	46163389	104337535	29514360	107	7907											
KIAA1033	23325	genome.wustl.edu	37	chr12	105520920	105520920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaggtaccagccatcaCtctaactgctaatattattt	11	15	5	10	0	3	0	2	0	1	0	3	0	3	0	2	1	4	3	2	1	5	7	rs575817689		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:105520920C>A	ENST00000332180.5	+	13	1139	c.1052C>A	c.(1051-1053)aCt>aAt	p.T351N		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CCAGCCATCACTCTAACTGCT	0.358																																																	0													65	64	64					12																	105520920		1808	4072	5880	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1052C>A	12.37:g.105520920C>A	ENSP00000328062:p.Thr351Asn			Missense_Mutation	SNP	NULL	p.T351N	ENST00000332180.5	37	c.1052	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855267	0.51376	.	.	ENSG00000136051	ENST00000332180	T	0.30448	1.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.54323	1.7	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.18871	0.023;0.023	T	0.08576	-1.0715	10	0.22706	T	0.39	.	18.6899	0.91580	0.0:1.0:0.0:0.0	.	351;351	B7ZKT9;Q2M389	.;WASH7_HUMAN	N	351	ENSP00000328062:T351N	ENSP00000328062:T351N	T	+	2	0	KIAA1033	104045050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.571000	0.82399	2.391000	0.81399	0.650000	0.86243	ACT	KIAA1033	-	NULL	ENSG00000136051		0.358	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	-	0	130	0	C	NM_015275		105520920	1	tier1	-	no_errors	ENST00000332180	ensembl	human	known	74_37	missense	23.40	108	33	SNP	1.000	A	A	105520920	C	A	105520920	3	1	33	1	0	0	0	0	1	0	0	0	8233	565	20	3	1102	3	KIAA1033	12	105520920	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	1183385	105520920	28330975	108	7908											
TESC	54997	genome.wustl.edu	37	chr12	117486955	117486955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccactgggtcccttgCgcaggttcctacgggagcaa	7	7	13	14	2	0	0	0	0	0	0	2	1	2	1	4	4	3	3	4	4	2	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:117486955C>T	ENST00000335209.7	-	4	404	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TESC_ENST00000541210.1_Missense_Mutation_p.R46H|TESC_ENST00000392545.4_Missense_Mutation_p.R126H|TESC_ENST00000535198.1_5'UTR			Q96BS2	CHP3_HUMAN	tescalcin	73					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GGGTCCCTTGCGCAGGTTCCT	0.537																																																	0													118	110	112					12																	117486955		2203	4300	6503	SO:0001583	missense	0			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"EF-hand domain containing"	26065	protein-coding gene	gene with protein product	"calcineurin-like EF hand protein 3"	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.218G>A	12.37:g.117486955C>T	ENSP00000334785:p.Arg73His		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R126H	ENST00000335209.7	37	c.377	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397995	0.42512	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.54866	0.55;0.55;1.22	5.92	5.92	0.95590	EF-hand-like domain (1);	0.178711	0.50627	D	0.000107	T	0.39911	0.1096	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.17289	-1.0374	10	0.21540	T	0.41	-21.8896	13.1034	0.59233	0.0:0.9233:0.0:0.0767	.	73	Q96BS2	TESC_HUMAN	H	73;126;46	ENSP00000334785:R73H;ENSP00000376328:R126H;ENSP00000445689:R46H	ENSP00000334785:R73H	R	-	2	0	TESC	115971338	0.998000	0.40836	1.000000	0.80357	0.769000	0.43574	2.718000	0.47236	2.811000	0.96726	0.555000	0.69702	CGC	TESC	-	NULL	ENSG00000088992		0.537	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	-	0	74	0	C	NM_017899		117486955	-1	tier1	-	no_errors	ENST00000392545	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.994	T	T	117486955	C	T	117486955	3	4	33	1	0	0	0	0	1	0	0	0	15813	768	27	1	446	1	TESC	12	117486955	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	11966035	117486955	16364940	109	7909											
KDM2B	84678	genome.wustl.edu	37	chr12	121877875	121877875	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctccgattgtccatcTgacctggtggggcaggaagg	6	10	15	10	1	1	1	0	1	1	0	3	3	3	2	3	5	1	3	3	5	1	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:121877875T>A	ENST00000377071.4	-	22	3686	c.3614A>T	c.(3613-3615)cAg>cTg	p.Q1205L	KDM2B_ENST00000542973.1_Missense_Mutation_p.Q573L|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Missense_Mutation_p.Q1136L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1205					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTGTCCATCTGACCTGGTGG	0.612																																																	0													35	41	39					12																	121877875		2062	4198	6260	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3614A>T	12.37:g.121877875T>A	ENSP00000366271:p.Gln1205Leu		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q1205L	ENST00000377071.4	37	c.3614	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	T	33	5.206692	0.95033	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.31769	1.48;1.48;1.48	5.61	5.61	0.85477	.	0.000000	0.50627	D	0.000119	T	0.37517	0.1006	N	0.26042	0.785	0.80722	D	1	B;D;D;B	0.63880	0.012;0.993;0.993;0.012	B;D;D;B	0.72338	0.035;0.977;0.977;0.035	T	0.09335	-1.0679	10	0.02654	T	1	-36.1166	15.8121	0.78573	0.0:0.0:0.0:1.0	.	645;1205;1136;648	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	L	1195;573;1136;1205;648;1208	ENSP00000437821:Q573L;ENSP00000366269:Q1136L;ENSP00000366271:Q1205L	ENSP00000261824:Q1208L	Q	-	2	0	KDM2B	120362258	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.040000	0.89188	2.139000	0.66308	0.533000	0.62120	CAG	KDM2B	-	NULL	ENSG00000089094		0.612	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	-	0	47	0	T	NM_032590		121877875	-1	tier1	-	no_errors	ENST00000377071	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A	A	121877875	T	A	121877875	3	1	33	1	0	0	0	0	1	0	0	0	8152	1580	55	5	456	5	KDM2B	12	121877875	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	4390920	121877875	11974020	110	7910											
RIMBP2	23504	genome.wustl.edu	37	chr12	130921822	130921822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctgtctgccgtggggaaGatgacttcagccacctgtgg	6	10	15	10	1	2	2	1	1	1	1	2	3	2	3	3	3	3	1	3	3	1	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:130921822G>C	ENST00000261655.4	-	10	1783	c.1620C>G	c.(1618-1620)atC>atG	p.I540M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.I448M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.I448M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	540	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCGTGGGGAAGATGACTTCAG	0.701																																																	0													9	9	9					12																	130921822		2185	4262	6447	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1620C>G	12.37:g.130921822G>C	ENSP00000261655:p.Ile540Met		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.I540M	ENST00000261655.4	37	c.1620	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425961	0.43020	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.29655	1.56;1.56;1.56	4.91	3.01	0.34805	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.259412	0.37857	N	0.001902	T	0.29223	0.0727	L	0.50919	1.6	0.29319	N	0.867459	B;B;B	0.33266	0.372;0.009;0.404	B;B;B	0.42495	0.315;0.017;0.389	T	0.24190	-1.0167	10	0.44086	T	0.13	-20.0171	2.7521	0.05284	0.153:0.2662:0.4441:0.1367	.	448;448;540	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	540;448;448;448	ENSP00000261655:I540M;ENSP00000440347:I448M;ENSP00000439159:I448M	ENSP00000261655:I540M	I	-	3	3	RIMBP2	129487775	0.781000	0.28676	0.758000	0.31321	0.947000	0.59692	0.097000	0.15168	0.449000	0.26747	0.549000	0.68633	ATC	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.701	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1		0	19	0	G	NM_015347		130921822	-1			no_errors	ENST00000261655	ensembl	human	known	74_37	missense	33.33	6	3	SNP	0.983	C	C	130921822	G	C	130921822	3	2	33	1	0	0	0	0	1	0	0	0	13408	932	33	5	1578	5	RIMBP2	12	130921822	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	9043947	130921822	2930073	111	7911											
DDX51	317781	genome.wustl.edu	37	chr12	132625264	132625264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcttagagctgaggctgCagggcacgtagtggtgctac	7	8	17	9	2	0	2	0	1	0	1	0	2	0	2	0	4	4	7	0	4	3	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:132625264C>T	ENST00000397333.3	-	10	1495	c.1457G>A	c.(1456-1458)tGc>tAc	p.C486Y		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	486					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTGAGGCTGCAGGGCACGTA	0.637																																																	0													59	69	65					12																	132625264		2075	4207	6282	SO:0001583	missense	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1457G>A	12.37:g.132625264C>T	ENSP00000380495:p.Cys486Tyr		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.C486Y	ENST00000397333.3	37	c.1457	CCDS41865.1	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943215	0.73672	.	.	ENSG00000185163	ENST00000397333	T	0.04654	3.58	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.87617	2.895	0.80722	D	1	P	0.47484	0.896	P	0.53490	0.727	T	0.00992	-1.1488	10	0.72032	D	0.01	-21.7462	15.8652	0.79060	0.0:1.0:0.0:0.0	.	486	Q8N8A6	DDX51_HUMAN	Y	486	ENSP00000380495:C486Y	ENSP00000380495:C486Y	C	-	2	0	DDX51	131191217	1.000000	0.71417	0.999000	0.59377	0.521000	0.34408	6.932000	0.75869	2.333000	0.79357	0.467000	0.42956	TGC	DDX51	-	superfamily_P-loop_NTPase	ENSG00000185163		0.637	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1		0	91	0	C	NM_175066		132625264	-1			no_errors	ENST00000397333	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	132625264	C	T	132625264	3	4	33	1	0	0	0	0	1	0	0	0	4378	710	25	3	567	3	DDX51	12	132625264	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	1703442	132625264	1226631	112	7912											
LRCH1	23143	genome.wustl.edu	37	chr13	47224409	47224409	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactggaaattcttaatctGtatcacaactgtatcagagt	13	14	6	8	0	5	1	3	0	2	1	5	2	5	2	0	1	1	2	0	1	5	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr13:47224409G>T	ENST00000389798.3	+	2	578	c.381G>T	c.(379-381)ctG>ctT	p.L127L	LRCH1_ENST00000389797.3_Silent_p.L127L|LRCH1_ENST00000311191.6_Silent_p.L127L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	127								p.H129fs*5(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTTAATCTGTATCACAACT	0.348																																																	1	Deletion - Frameshift(1)	kidney(1)											90	82	85					13																	47224409		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.381G>T	13.37:g.47224409G>T			B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.L127	ENST00000389798.3	37	c.381	CCDS31972.1	13																																																																																			LRCH1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000136141		0.348	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	-	0	52	0	G	NM_015116		47224409	1	tier1	-	no_errors	ENST00000389798	ensembl	human	known	74_37	silent	51.85	26	28	SNP	0.670	T	T	47224409	G	T	47224409	2	4	33	1	0	0	0	0	0	0	0	1	8967	1364	48	3		3	LRCH1	13	47224409	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		47224409	67945469	113	7913											
SLITRK5	26050	genome.wustl.edu	37	chr13	88328551	88328551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgcctttgagcaccaCggggtatttacacaccaccc	10	7	9	15	2	0	2	0	1	0	1	0	2	0	2	4	2	2	3	4	2	2	4	rs113077003		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr13:88328551C>T	ENST00000325089.6	+	2	1127	c.908C>T	c.(907-909)aCg>aTg	p.T303M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T62M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	303					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGAGCACCACGGGGTATTTA	0.537																																																	0													64	71	69					13																	88328551		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.908C>T	13.37:g.88328551C>T	ENSP00000366283:p.Thr303Met		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T303M	ENST00000325089.6	37	c.908	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085034	0.36758	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	.	0.172916	0.48767	D	0.000169	T	0.36468	0.0968	N	0.08118	0	0.35042	D	0.759848	D;B	0.71674	0.998;0.067	P;B	0.57204	0.815;0.018	T	0.44498	-0.9324	9	.	.	.	-10.9403	13.101	0.59219	0.0:0.8391:0.1609:0.0	.	62;303	B4DSH5;O94991	.;SLIK5_HUMAN	M	303;62	ENSP00000366283:T303M;ENSP00000442244:T62M	.	T	+	2	0	SLITRK5	87126552	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.221000	0.51215	2.724000	0.93272	0.491000	0.48974	ACG	SLITRK5	-	NULL	ENSG00000165300		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	75	0	C			88328551	1	tier1	rs113077003	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	T	T	88328551	C	T	88328551	3	4	33	1	0	0	0	0	1	0	0	0	14791	536	19	1	910	1	SLITRK5	13	88328551	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	41104142	88328551	26841327	114	7914											
OR4N2	390429	genome.wustl.edu	37	chr14	20295854	20295854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggctccccggatgttgGtggacttcctctctgcgaag	4	13	13	11	2	1	0	0	0	1	0	4	3	3	2	3	4	1	2	3	4	1	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:20295854G>A	ENST00000315947.1	+	1	247	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	OR4N2_ENST00000568211.1_Missense_Mutation_p.V83M	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATGTTGGTGGACTTCCT	0.522																																																	0													145	167	159					14																	20295854		2203	4300	6503	SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.247G>A	14.37:g.20295854G>A	ENSP00000319601:p.Val83Met		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V83M	ENST00000315947.1	37	c.247	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	13.39	2.223438	0.39300	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00397	7.57;7.57	4.3	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.153839	0.30260	N	0.010034	T	0.00412	0.0013	M	0.66378	2.025	0.09310	N	1	P	0.40376	0.715	P	0.47206	0.541	T	0.40720	-0.9548	10	0.56958	D	0.05	-5.3503	4.5407	0.12056	0.1066:0.0:0.4952:0.3982	.	83	Q8NGD1	OR4N2_HUMAN	M	83	ENSP00000452022:V83M;ENSP00000319601:V83M	ENSP00000319601:V83M	V	+	1	0	OR4N2	19365694	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-1.229000	0.02945	1.090000	0.41315	0.591000	0.81541	GTG	OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176294		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0	299	0	G			20295854	1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	26.35	259	93	SNP	0.251	A	A	20295854	G	A	20295854	3	1	33	1	0	0	0	0	1	0	0	0	11116	1261	44	3	249	3	OR4N2	14	20295854	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		20295854	87053686	115	7915											
OR4K14	122740	genome.wustl.edu	37	chr14	20482578	20482578	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctactgaaaggccgcacatAaacaaaaatgcaagggccaa	18	4	8	11	1	0	1	0	1	0	0	0	1	0	1	3	2	3	2	3	2	8	2	rs200567872		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:20482578A>C	ENST00000305045.2	-	1	774	c.775T>G	c.(775-777)Tat>Gat	p.Y259D		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCCGCACATAAACAAAAATG	0.458																																																	0													104	89	94					14																	20482578		2203	4300	6503	SO:0001583	missense	0				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.775T>G	14.37:g.20482578A>C	ENSP00000305011:p.Tyr259Asp		Q6IEU1|Q96R71	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y259D	ENST00000305045.2	37	c.775	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	14.47	2.545052	0.45280	.	.	ENSG00000169484	ENST00000305045	T	0.00291	8.27	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001053	T	0.01189	0.0039	H	0.99619	4.66	0.30473	N	0.773167	D	0.56035	0.974	P	0.58130	0.833	T	0.01795	-1.1272	10	0.87932	D	0	.	11.7883	0.52055	1.0:0.0:0.0:0.0	.	259	Q8NGD5	OR4KE_HUMAN	D	259	ENSP00000305011:Y259D	ENSP00000305011:Y259D	Y	-	1	0	OR4K14	19552418	0.967000	0.33354	0.994000	0.49952	0.374000	0.29953	3.694000	0.54742	1.619000	0.50296	0.413000	0.27773	TAT	OR4K14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169484		0.458	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	-	0	42	0	A			20482578	-1	tier1	-	no_errors	ENST00000305045	ensembl	human	known	74_37	missense	49.02	26	25	SNP	0.997	C	C	20482578	A	C	20482578	3	2	33	1	0	0	0	0	1	0	0	0	11108	362	13	4	160	4	OR4K14	14	20482578	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	186724	20482578	86866962	116	7916											
ZFYVE26	23503	genome.wustl.edu	37	chr14	68256264	68256264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggggatggggtctccaGaggtgttgagcagcttgtca	7	10	17	7	0	2	2	1	1	1	1	3	3	2	3	1	5	2	4	1	5	0	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:68256264G>T	ENST00000347230.4	-	16	2945	c.2807C>A	c.(2806-2808)tCt>tAt	p.S936Y	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S936Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	936					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S936C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGGGTCTCCAGAGGTGTTGAG	0.522																																																	1	Substitution - Missense(1)	lung(1)											116	121	119					14																	68256264		2203	4300	6503	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2807C>A	14.37:g.68256264G>T	ENSP00000251119:p.Ser936Tyr		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S936Y	ENST00000347230.4	37	c.2807	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816444	0.90790	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.31247	1.65;1.5	5.74	5.74	0.90152	.	0.174899	0.52532	D	0.000078	T	0.54127	0.1839	M	0.65975	2.015	0.46011	D	0.998818	D;D	0.63880	0.993;0.976	P;P	0.61592	0.891;0.656	T	0.53641	-0.8410	10	0.66056	D	0.02	-9.7808	19.9351	0.97137	0.0:0.0:1.0:0.0	.	936;936	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Y	936;915;936	ENSP00000251119:S936Y;ENSP00000450603:S936Y	ENSP00000251119:S936Y	S	-	2	0	ZFYVE26	67326017	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.551000	0.82182	2.703000	0.92315	0.655000	0.94253	TCT	ZFYVE26	-	NULL	ENSG00000072121		0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2		0	33	0	G	NM_015346		68256264	-1			no_errors	ENST00000347230	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	68256264	G	T	68256264	3	4	33	1	0	0	0	0	1	0	0	0	17716	942	33	3	4920	3	ZFYVE26	14	68256264	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	47773686	68256264	39093276	117	7917											
ACOT6	641372	genome.wustl.edu	37	chr14	74086064	74086064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtagccaacacagtaGctcctctacattacaaggat	12	10	7	12	0	1	0	0	0	1	0	2	1	2	1	3	1	5	3	3	1	6	4	rs555036192		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:74086064G>A	ENST00000381139.1	+	2	476	c.145G>A	c.(145-147)Gct>Act	p.A49T	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	49						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CAACACAGTAGCTCCTCTACA	0.403													G|||	1	0.000199681	0	0	5008	,	,		19774	0		0	False		,,,				2504	0.001																0													111	97	102					14																	74086064		2203	4300	6503	SO:0001583	missense	0			DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"Acyl CoA thioesterases"	33159	protein-coding gene	gene with protein product		614267	"chromosome 14 open reading frame 42"	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.145G>A	14.37:g.74086064G>A	ENSP00000370531:p.Ala49Thr			Missense_Mutation	SNP	pfam_BAAT_C,pfam_Serine_hydrolase_FSH	p.A49T	ENST00000381139.1	37	c.145	CCDS32118.1	14	.	.	.	.	.	.	.	.	.	.	G	0.977	-0.698363	0.03279	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.30448	1.53;1.53	5.93	-0.165	0.13355	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.808013	0.11510	N	0.556783	T	0.18800	0.0451	L	0.33753	1.03	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.36311	-0.9753	10	0.12103	T	0.63	-18.7672	7.0512	0.25073	0.2566:0.0:0.5439:0.1995	.	49	Q3I5F7	ACOT6_HUMAN	T	49	ENSP00000451464:A49T;ENSP00000370531:A49T	ENSP00000370531:A49T	A	+	1	0	ACOT6	73155817	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	-0.264000	0.08658	-0.148000	0.11234	-0.797000	0.03246	GCT	ACOT6	-	pfam_BAAT_C,pfam_Serine_hydrolase_FSH	ENSG00000205669		0.403	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT6	HGNC	protein_coding	OTTHUMT00000414437.1		0	47	0	G	NM_001037162		74086064	1			no_errors	ENST00000381139	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	A	A	74086064	G	A	74086064	3	1	33	1	0	0	0	0	1	0	0	0	154	971	34	3	151	3	ACOT6	14	74086064	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	5829800	74086064	33263476	118	7918											
PTPN21	11099	genome.wustl.edu	37	chr14	88951473	88951473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattatagtgcaactgcggtGggggaggcatcacgtagggc	9	8	16	8	2	1	0	1	0	0	0	1	1	1	1	0	5	3	3	0	5	4	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:88951473G>T	ENST00000556564.1	-	12	1309	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	PTPN21_ENST00000328736.3_Missense_Mutation_p.P342Q	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	342	Poly-Pro.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAACTGCGGTGGGGGAGGCAT	0.423																																																	0													131	120	124					14																	88951473		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1025C>A	14.37:g.88951473G>T	ENSP00000452414:p.Pro342Gln			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.P342Q	ENST00000556564.1	37	c.1025	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841683	0.51057	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	D;D	0.82167	-1.58;-1.58	5.49	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.88328	0.6407	L	0.52364	1.645	0.38597	D	0.950563	D	0.89917	1.0	D	0.91635	0.999	D	0.88770	0.3263	10	0.39692	T	0.17	.	16.0668	0.80887	0.0:0.0:0.8649:0.1351	.	342	Q16825	PTN21_HUMAN	Q	342	ENSP00000330276:P342Q;ENSP00000452414:P342Q	ENSP00000330276:P342Q	P	-	2	0	PTPN21	88021226	1.000000	0.71417	0.974000	0.42286	0.117000	0.20001	6.016000	0.70798	1.437000	0.47472	0.655000	0.94253	CCA	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.423	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0	70	0	G			88951473	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	17.20	77	16	SNP	1.000	T	T	88951473	G	T	88951473	3	4	33	1	0	0	0	0	1	0	0	0	12831	1348	47	3	2531	3	PTPN21	14	88951473	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	14865409	88951473	18398067	119	7919											
SERPINA4	5267	genome.wustl.edu	37	chr14	95029834	95029834	+	Missense_Mutation	SNP	C	C	G																															cagaggatgcatcttatcgaCtacctgctcctcctgctggt																										TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:95029834C>G	ENST00000557004.1	+	2	436	c.15C>G	c.(13-15)gaC>gaG	p.D5E	SERPINA4_ENST00000298841.5_Missense_Mutation_p.D5E|SERPINA4_ENST00000555095.1_Missense_Mutation_p.D5E|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	5					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATCTTATCGACTACCTGCTCC	0.557																																																	0													78	79	79					14																	95029834		2203	4300	6503	SO:0001583	missense	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.15C>G	14.37:g.95029834C>G	ENSP00000450838:p.Asp5Glu		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D5E	ENST00000557004.1	37	c.15	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	C	6.787	0.514243	0.12944	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.82081	-1.57;-1.57;-1.57	4.18	-0.111	0.13576	Serpin domain (1);	1.757370	0.03729	N	0.253106	T	0.65811	0.2727	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.14578	0.011;0.007	T	0.52472	-0.8571	10	0.38643	T	0.18	.	3.8097	0.08792	0.1561:0.4517:0.3033:0.0889	.	5;5	B2R815;P29622	.;KAIN_HUMAN	E	5	ENSP00000450838:D5E;ENSP00000451172:D5E;ENSP00000298841:D5E	ENSP00000298841:D5E	D	+	3	2	SERPINA4	94099587	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.263000	0.09378	-0.961000	0.02630	GAC	SERPINA4	-	superfamily_Serpin_dom	ENSG00000100665		0.557	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	-	0	34	0	C	NM_006215		95029834	1	tier1	-	no_errors	ENST00000298841	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.000	G	G	95029834	C	G	95029834	3	3	33	1	0	0	0	0	1	0	0	0	14136	564	20	5	17	5	SERPINA4	14	95029834	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	6078361	95029834	12319706	120	7920	31	2									
SERPINA4	5267	genome.wustl.edu	37	chr14	95029843	95029843	+	Silent	SNP	C	C	G																															catcttatcgactacctgctCctcctgctggttggactact																										TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:95029843C>G	ENST00000557004.1	+	2	445	c.24C>G	c.(22-24)ctC>ctG	p.L8L	SERPINA4_ENST00000298841.5_Silent_p.L8L|SERPINA4_ENST00000555095.1_Silent_p.L8L|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	8					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTACCTGCTCCTCCTGCTGG	0.547																																																	0													79	79	79					14																	95029843		2203	4300	6503	SO:0001819	synonymous_variant	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.24C>G	14.37:g.95029843C>G			Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L8	ENST00000557004.1	37	c.24	CCDS9927.1	14																																																																																			SERPINA4	-	superfamily_Serpin_dom	ENSG00000100665		0.547	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	-	0	32	0	C	NM_006215		95029843	1	tier1	-	no_errors	ENST00000298841	ensembl	human	known	74_37	silent	16.18	57	11	SNP	0.198	G	G	95029843	C	G	95029843	2	3	33	1	0	0	0	0	0	0	0	1	14136	842	30	5		5	SERPINA4	14	95029843	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	9	95029843	12319697	121	7921	31	2									
DYNC1H1	1778	genome.wustl.edu	37	chr14	102486374	102486374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatttgggcacatgaagctCtgcgtctcttccaagatagg	9	11	12	9	1	2	2	0	1	2	1	4	3	3	3	1	3	2	2	1	3	3	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:102486374C>T	ENST00000360184.4	+	42	8652	c.8488C>T	c.(8488-8490)Ctg>Ttg	p.L2830L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2830					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACATGAAGCTCTGCGTCTCTT	0.542																																																	0													90	78	82					14																	102486374		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8488C>T	14.37:g.102486374C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L2830	ENST00000360184.4	37	c.8488	CCDS9966.1	14																																																																																			DYNC1H1	-	superfamily_P-loop_NTPase	ENSG00000197102		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	77	0	C	NM_001376		102486374	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	25.88	63	22	SNP	1.000	T	T	102486374	C	T	102486374	2	4	33	1	0	0	0	0	0	0	0	1	4855	912	32	3		3	DYNC1H1	14	102486374	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	7456531	102486374	4863166	122	7922											
OCA2	4948	genome.wustl.edu	37	chr15	28116298	28116298	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggacatgtgcaactcAccatggtagcagtgaacggg	12	7	13	9	1	1	1	1	1	0	0	1	3	1	2	1	3	4	3	1	3	3	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:28116298A>C	ENST00000354638.3	-	21	2400		c.e21+1		OCA2_ENST00000353809.5_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TGTGCAACTCACCATGGTAGC	0.592									Oculocutaneous Albinism																																								0													146	110	122					15																	28116298		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2244+1T>G	15.37:g.28116298A>C			Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	SNP	-	e20+2	ENST00000354638.3	37	c.2244+2	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183227	0.38511	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1556	0.54074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OCA2	25789893	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	8.096000	0.89537	2.174000	0.68829	0.533000	0.62120	.	OCA2	-	-	ENSG00000104044		0.592	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0	38	0	A	NM_000275	Intron	28116298	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	splice_site	36.67	19	11	SNP	1.000	C	C	28116298	A	C	28116298	5	2	33	1	0	0	0	0	0	0	1	0	10854	173	6	4	286	4	OCA2	15	28116298	Splice_Site	SNP	A	TCGA-IG-A97I-01A-11D-A387-09		28116298	74415094	123	7923											
TJP1	7082	genome.wustl.edu	37	chr15	30000830	30000830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggcttctctgcatggaTagagaaagtttcaactccac	11	13	8	9	0	2	1	1	0	1	1	4	3	3	2	1	2	2	3	1	2	4	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:30000830T>C	ENST00000346128.6	-	25	5257	c.4783A>G	c.(4783-4785)Atc>Gtc	p.I1595V	TJP1_ENST00000356107.6_Missense_Mutation_p.I1595V|TJP1_ENST00000400011.2_Missense_Mutation_p.I1519V|TJP1_ENST00000545208.2_Missense_Mutation_p.I1515V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1595					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGCATGGATAGAGAAAGTT	0.413																																					Melanoma(77;681 1843 6309 6570)												0													136	126	129					15																	30000830		1853	4098	5951	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4783A>G	15.37:g.30000830T>C	ENSP00000281537:p.Ile1595Val		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.I1595V	ENST00000346128.6	37	c.4783	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	T	0.874	-0.730860	0.03135	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.05258	3.47;3.55	6.17	-0.289	0.12851	.	0.547182	0.21196	N	0.078547	T	0.01661	0.0053	N	0.01576	-0.805	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.46965	-0.9153	10	0.05525	T	0.97	.	7.0138	0.24877	0.0:0.3791:0.1231:0.4978	.	1588;1515;1595;1519	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	1595;1519;1595;1515;1515	ENSP00000281537:I1595V;ENSP00000382890:I1519V	ENSP00000281537:I1595V	I	-	1	0	TJP1	27788122	0.175000	0.23083	0.061000	0.19648	0.994000	0.84299	0.458000	0.21892	-0.034000	0.13713	0.533000	0.62120	ATC	TJP1	-	NULL	ENSG00000104067		0.413	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0	87	0	T	NM_003257		30000830	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.040	C	C	30000830	T	C	30000830	3	2	33	1	0	0	0	0	1	0	0	0	15976	1406	49	4	479	4	TJP1	15	30000830	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	1884532	30000830	72530562	124	7924											
MEIS2	4212	genome.wustl.edu	37	chr15	37386766	37386766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaaccttagtacttgtaTtgcttgtatcatctgaaaga	13	15	7	6	0	2	3	1	2	1	1	2	3	2	3	1	0	3	4	1	0	6	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:37386766T>C	ENST00000561208.1	-	5	869	c.451A>G	c.(451-453)Ata>Gta	p.I151V	MEIS2_ENST00000340545.5_Missense_Mutation_p.I138V|MEIS2_ENST00000338564.5_Missense_Mutation_p.I151V|MEIS2_ENST00000424352.2_Missense_Mutation_p.I151V|MEIS2_ENST00000444725.1_Missense_Mutation_p.I151V|MEIS2_ENST00000397620.2_Missense_Mutation_p.I63V|MEIS2_ENST00000219869.9_Missense_Mutation_p.I5V|MEIS2_ENST00000557796.2_Missense_Mutation_p.I138V|MEIS2_ENST00000382766.2_Missense_Mutation_p.I151V|MEIS2_ENST00000397624.3_Missense_Mutation_p.I63V|MEIS2_ENST00000559085.1_Missense_Mutation_p.I138V|MEIS2_ENST00000559561.1_Missense_Mutation_p.I151V			O14770	MEIS2_HUMAN	Meis homeobox 2	151	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGTACTTGTATTGCTTGTATC	0.453																																																	0													135	122	127					15																	37386766		2201	4297	6498	SO:0001583	missense	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"Homeoboxes / TALE class"	7001	protein-coding gene	gene with protein product		601740	"Meis (mouse) homolog 2", "Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.451A>G	15.37:g.37386766T>C	ENSP00000453793:p.Ile151Val		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.I151V	ENST00000561208.1	37	c.451	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	T	18.64	3.668308	0.67814	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.5	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;P;P;B;P;D	0.89917	0.993;1.0;0.996;0.931;0.725;0.09;0.9;0.998	D;D;D;P;B;B;D;D	0.87578	0.933;0.998;0.992;0.73;0.355;0.078;0.959;0.995	T	0.68655	-0.5351	10	0.87932	D	0	-6.4629	16.2421	0.82418	0.0:0.0:0.0:1.0	.	138;151;151;151;151;5;63;138	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	V	151;151;151;151;151;138;138;63;5	ENSP00000326296:I151V;ENSP00000341400:I151V;ENSP00000372216:I151V;ENSP00000404185:I151V;ENSP00000391887:I151V;ENSP00000339549:I138V;ENSP00000380745:I63V;ENSP00000219869:I5V	ENSP00000219869:I5V	I	-	1	0	MEIS2	35174058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	ATA	MEIS2	-	NULL	ENSG00000134138		0.453	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	-	0	48	0	T	NM_170677		37386766	-1	tier1	-	no_errors	ENST00000561208	ensembl	human	known	74_37	missense	41.30	27	19	SNP	1.000	C	C	37386766	T	C	37386766	3	2	33	1	0	0	0	0	1	0	0	0	9506	1493	52	4	1077	4	MEIS2	15	37386766	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	7385936	37386766	65144626	125	7925											
MGA	23269	genome.wustl.edu	37	chr15	42003263	42003263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaatactctcatgtgattCtaggagataaggttaccaag	15	11	9	6	0	2	3	1	1	2	2	3	4	2	3	1	2	2	1	1	2	6	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:42003263C>T	ENST00000570161.1	+	7	2800	c.2800C>T	c.(2800-2802)Cta>Tta	p.L934L	MGA_ENST00000219905.7_Silent_p.L934L|MGA_ENST00000389936.4_Silent_p.L934L|MGA_ENST00000566586.1_Silent_p.L934L|MGA_ENST00000545763.1_Silent_p.L934L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCATGTGATTCTAGGAGATAA	0.368																																																	0													142	140	141					15																	42003263		1881	4121	6002	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2800C>T	15.37:g.42003263C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L934	ENST00000570161.1	37	c.2800	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	46	0	C	NM_001164273.1		42003263	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	28.26	33	13	SNP	0.000	T	T	42003263	C	T	42003263	2	4	33	1	0	0	0	0	0	0	0	1	9578	912	32	3		3	MGA	15	42003263	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	4616497	42003263	60528129	126	7926											
SPTBN5	51332	genome.wustl.edu	37	chr15	42155939	42155939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgacattgtccagctctCgggacaacacgtgtatctcc	8	11	10	12	2	2	1	0	1	2	0	5	2	3	2	2	2	2	2	2	2	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:42155939C>T	ENST00000320955.6	-	41	7339	c.7112G>A	c.(7111-7113)cGa>cAa	p.R2371Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2371					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTCCAGCTCTCGGGACAACAC	0.597																																																	0													88	95	93					15																	42155939		2050	4191	6241	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7112G>A	15.37:g.42155939C>T	ENSP00000317790:p.Arg2371Gln			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R2371Q	ENST00000320955.6	37	c.7112		15	.	.	.	.	.	.	.	.	.	.	.	9.563	1.119110	0.20877	.	.	ENSG00000137877	ENST00000320955	T	0.49432	0.78	4.75	-2.45	0.06481	.	1.026890	0.07807	N	0.957457	T	0.30510	0.0767	L	0.31526	0.94	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24119	-1.0169	10	0.18276	T	0.48	.	7.6788	0.28500	0.1028:0.5175:0.0:0.3797	.	2371	Q9NRC6	SPTN5_HUMAN	Q	2371	ENSP00000317790:R2371Q	ENSP00000317790:R2371Q	R	-	2	0	SPTBN5	39943231	0.008000	0.16893	0.000000	0.03702	0.005000	0.04900	0.145000	0.16157	-0.740000	0.04803	-1.134000	0.01955	CGA	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.597	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	33	0	C	NM_016642		42155939	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.000	T	T	42155939	C	T	42155939	3	4	33	1	0	0	0	0	1	0	0	0	15169	884	31	1	4024	1	SPTBN5	15	42155939	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	152676	42155939	60375453	127	7927											
DIS3L	115752	genome.wustl.edu	37	chr15	66610849	66610849	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacatttccgtccaaaGaagaggtccaatctcagggc	11	9	11	10	1	1	3	1	1	1	2	5	3	4	3	3	3	0	0	3	3	3	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:66610849G>T	ENST00000319212.4	+	8	1107	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	DIS3L_ENST00000319194.5_Nonsense_Mutation_p.E270*|DIS3L_ENST00000441424.2_Intron|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	353					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.E353Q(1)|p.E270Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCGTCCAAAGAAGAGGTCCA	0.433																																																	2	Substitution - Missense(2)	lung(2)											126	124	124					15																	66610849		2201	4299	6500	SO:0001587	stop_gained	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1057G>T	15.37:g.66610849G>T	ENSP00000321711:p.Glu353*		Q8N1N8|Q8WTU9|Q96CM7	Nonsense_Mutation	SNP	NULL	p.E353*	ENST00000319212.4	37	c.1057	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.816081	0.96982	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	.	.	.	4.28	3.33	0.38152	.	0.578800	0.18822	N	0.130215	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-32.9815	12.7488	0.57296	0.0:0.0:0.8346:0.1654	.	.	.	.	X	270;353	.	ENSP00000321583:E270X	E	+	1	0	DIS3L	64397903	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.119000	0.94362	1.093000	0.41377	0.591000	0.81541	GAA	DIS3L	-	NULL	ENSG00000166938		0.433	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	-	0	86	0	G	NM_133375		66610849	1	tier1	-	no_errors	ENST00000319212	ensembl	human	known	74_37	nonsense	37.50	55	33	SNP	1.000	T	T	66610849	G	T	66610849	4	4	33	1	0	0	0	0	0	1	0	0	4550	943	33	3	1087	3	DIS3L	15	66610849	Nonsense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	24454910	66610849	35920543	128	7928											
IREB2	3658	genome.wustl.edu	37	chr15	78790410	78790410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtattcagcgtgattgcttcGtttgaagatgatgtggaaat	10	15	12	4	2	1	4	1	3	0	1	2	5	1	5	0	1	2	3	0	1	3	5	rs144816277		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:78790410G>A	ENST00000258886.8	+	22	2966	c.2817G>A	c.(2815-2817)tcG>tcA	p.S939S		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	939					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGATTGCTTCGTTTGAAGATG	0.363													G|||	1	0.000199681	0	0	5008	,	,		21088	0.001		0	False		,,,				2504	0				NSCLC(200;764 2208 35157 49871 50830)												0								G		0,4392		0,0,2196	150	136	141		2817	-11	0.4	15	dbSNP_134	141	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	IREB2	NM_004136.2		0,1,6488	AA,AG,GG		0.0116,0.0,0.0077		939/964	78790410	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2817G>A	15.37:g.78790410G>A			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.S939	ENST00000258886.8	37	c.2817	CCDS10302.1	15																																																																																			IREB2	-	superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0	46	0	G	NM_004136		78790410	1	tier1	rs144816277	no_errors	ENST00000258886	ensembl	human	known	74_37	silent	12.50	42	6	SNP	0.028	A	A	78790410	G	A	78790410	2	1	33	1	0	0	0	0	0	0	0	1	7853	1132	40	1		1	IREB2	15	78790410	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	12179561	78790410	23740982	129	7929											
IGF1R	3480	genome.wustl.edu	37	chr15	99500554	99500554	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggccgagaacggcccCggccctggggtgctggtcct	6	5	15	15	3	0	1	0	0	0	1	1	2	1	1	5	6	2	1	5	6	2	0	rs531882235		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:99500554C>G	ENST00000268035.6	+	21	4598	c.3987C>G	c.(3985-3987)ccC>ccG	p.P1329P	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.P1328P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1329					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	AGAACGGCCCCGGCCCTGGGG	0.692																																																	0													35	41	39					15																	99500554		2197	4297	6494	SO:0001819	synonymous_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3987C>G	15.37:g.99500554C>G			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.P1329	ENST00000268035.6	37	c.3987	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000140443		0.692	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0	64	0	C	NM_000875		99500554	1			no_errors	ENST00000268035	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.026	G	G	99500554	C	G	99500554	2	3	33	1	0	0	0	0	0	0	0	1	7598	639	23	5		5	IGF1R	15	99500554	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	20710144	99500554	3030838	130	7930											
NOXO1	124056	genome.wustl.edu	37	chr16	2030148	2030148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcggcccgcagcgcgagaaaGaggctgctcctctggggtgg	6	5	18	12	4	1	2	0	0	1	2	2	3	2	2	2	5	2	3	2	5	1	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:2030148G>C	ENST00000397280.4	-	5	454	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	NOXO1_ENST00000354249.4_Missense_Mutation_p.L145V|NOXO1_ENST00000356120.4_Missense_Mutation_p.L146V|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.L150V|AC005606.1_ENST00000598236.1_5'Flank			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	151					extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	GCGCGAGAAAGAGGCTGCTCC	0.672																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0													13	18	16					16																	2030148		2186	4293	6479	SO:0001583	missense	0			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.451C>G	16.37:g.2030148G>C	ENSP00000380450:p.Leu151Val		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.L151V	ENST00000397280.4	37	c.451	CCDS42101.1	16	.	.	.	.	.	.	.	.	.	.	G	4.875	0.162569	0.09287	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.70045	-0.45;-0.45;-0.45	4.29	-1.99	0.07457	Src homology-3 domain (1);	2.420760	0.01052	N	0.004485	T	0.59445	0.2194	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.30504	-0.9976	10	0.27082	T	0.32	.	7.8725	0.29573	0.2132:0.2206:0.5662:0.0	.	150;145;146;151	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	V	145;146;151	ENSP00000346195:L145V;ENSP00000348435:L146V;ENSP00000380450:L151V	ENSP00000346195:L145V	L	-	1	0	NOXO1	1970149	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.300000	0.19156	-0.511000	0.06514	-2.178000	0.00318	CTT	NOXO1	-	superfamily_SH3_domain	ENSG00000196408		0.672	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	-	0	19	0	G			2030148	-1	tier1	-	no_errors	ENST00000397280	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.000	C	C	2030148	G	C	2030148	3	2	33	1	0	0	0	0	1	0	0	0	10600	942	33	5	695	5	NOXO1	16	2030148	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		2030148	88324605	131	7931											
C16orf63	123811	genome.wustl.edu	37	chr16	15977900	15977900	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctgtatacttatatttgTtgaattctaaatactctcga	12	18	5	6	1	2	1	0	1	2	0	3	2	2	1	0	0	3	3	0	0	8	9			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:15977900T>G	ENST00000255759.6	-	2	220	c.191A>C	c.(190-192)aAc>aCc	p.N64T	FOPNL_ENST00000573396.1_Missense_Mutation_p.N64T|FOPNL_ENST00000573429.1_Missense_Mutation_p.N64T|CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.N64T|FOPNL_ENST00000573968.1_Missense_Mutation_p.N64T	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	64	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.|Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CTTATATTTGTTGAATTCTAA	0.353																																																	0													84	87	86					16																	15977900		2197	4300	6497	SO:0001583	missense	0			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"pluripotent embryonic stem cell-related protein", "FOP-related protein of 20 kDa"		"chromosome 16 open reading frame 63"	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.191A>C	16.37:g.15977900T>G	ENSP00000255759:p.Asn64Thr		B3KPU9	Missense_Mutation	SNP	pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.N64T	ENST00000255759.6	37	c.191	CCDS10567.1	16	.	.	.	.	.	.	.	.	.	.	t	24.7	4.555938	0.86231	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.96	5.96	0.96718	LisH dimerisation motif (2);FGFR1 oncogene partner (FOP), N-terminal dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.81380	0.4810	M	0.89904	3.07	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81193	-0.1044	9	0.22706	T	0.39	-33.3191	14.2233	0.65843	0.0:0.0:0.0:1.0	.	64;64	B3KPU9;Q96NB1	.;FOPNL_HUMAN	T	64	.	ENSP00000255759:N64T	N	-	2	0	FOPNL	15885401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.301000	0.78850	2.297000	0.77311	0.515000	0.50301	AAC	FOPNL	-	pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000133393		0.353	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOPNL	HGNC	protein_coding	OTTHUMT00000252177.2	-	0	68	0	T	NM_144600		15977900	-1	tier1	-	no_errors	ENST00000255759	ensembl	human	known	74_37	missense	32.39	48	23	SNP	1.000	G	G	15977900	T	G	15977900	3	3	33	1	0	0	0	0	1	0	0	0	1831	1725	60	4	349	4	C16orf63	16	15977900	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	13947752	15977900	74376853	132	7932											
DNAH3	55567	genome.wustl.edu	37	chr16	21033361	21033361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagatgtctggacaacaaatTtacaatgaaggcgaccaaat	17	8	9	7	1	1	2	0	1	1	1	1	5	1	3	1	2	2	0	1	2	6	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:21033361T>A	ENST00000261383.3	-	40	5707	c.5708A>T	c.(5707-5709)aAa>aTa	p.K1903I	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1903	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACAACAAATTTACAATGAAG	0.463																																																	0													130	105	114					16																	21033361		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5708A>T	16.37:g.21033361T>A	ENSP00000261383:p.Lys1903Ile		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.K1903I	ENST00000261383.3	37	c.5708	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350539	0.61183	.	.	ENSG00000158486	ENST00000261383	T	0.32753	1.44	4.92	2.36	0.29203	.	0.243779	0.36101	N	0.002787	T	0.39545	0.1082	M	0.89353	3.025	0.80722	D	1	P	0.44309	0.832	B	0.41988	0.372	T	0.35276	-0.9795	10	0.66056	D	0.02	.	8.4902	0.33095	0.0:0.2525:0.0:0.7475	.	1903	Q8TD57	DYH3_HUMAN	I	1903	ENSP00000261383:K1903I	ENSP00000261383:K1903I	K	-	2	0	DNAH3	20940862	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.908000	0.28545	0.141000	0.18875	0.379000	0.24179	AAA	DNAH3	-	NULL	ENSG00000158486		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	26	0	T	NM_017539		21033361	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	A	A	21033361	T	A	21033361	3	1	33	1	0	0	0	0	1	0	0	0	4617	1841	64	5	6733	5	DNAH3	16	21033361	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	5055461	21033361	69321392	133	7933											
FBXL19	54620	genome.wustl.edu	37	chr16	30958499	30958499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctggcagctgccgggcCccctggccccttccgctgcc	1	6	13	21	3	0	0	0	0	0	0	1	0	1	0	8	4	3	4	8	4	0	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:30958499C>T	ENST00000380310.2	+	11	2191	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	FBXL19_ENST00000338343.4_Missense_Mutation_p.P658L|AC135048.13_ENST00000566056.1_RNA|FBXL19_ENST00000562319.1_Missense_Mutation_p.P658L|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000565690.1_Missense_Mutation_p.P542L|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.P366L|ORAI3_ENST00000566237.1_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	678					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCTGCCGGGCCCCCTGGCCCC	0.711																																																	0													10	13	12					16																	30958499		1886	4084	5970	SO:0001583	missense	0			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"F-boxes / Leucine-rich repeats"	25300	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1C"	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.2033C>T	16.37:g.30958499C>T	ENSP00000369666:p.Pro678Leu		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P678L	ENST00000380310.2	37	c.2033	CCDS45465.1	16	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889062	0.52014	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.22945	1.93;2.23	5.27	5.27	0.74061	.	0.105886	0.37715	N	0.001968	T	0.20007	0.0481	N	0.19112	0.55	0.51012	D	0.9999	B;B	0.14438	0.01;0.006	B;B	0.12156	0.007;0.007	T	0.02844	-1.1103	10	0.39692	T	0.17	-13.6469	17.6484	0.88155	0.0:1.0:0.0:0.0	.	678;635	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	L	658;678	ENSP00000339712:P658L;ENSP00000369666:P678L	ENSP00000339712:P658L	P	+	2	0	FBXL19	30866000	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.806000	0.47947	2.456000	0.83038	0.555000	0.69702	CCC	FBXL19	-	NULL	ENSG00000099364		0.711	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19	HGNC	protein_coding		-	0	53	0	C	NM_019085		30958499	1	tier1	-	no_errors	ENST00000380310	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	30958499	C	T	30958499	3	4	33	1	0	0	0	0	1	0	0	0	5737	623	22	3	2075	3	FBXL19	16	30958499	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	9925138	30958499	59396254	134	7934											
ZNF23	7571	genome.wustl.edu	37	chr16	71482777	71482777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttctcacctgtgtggattCtctgatgctgaatgagtttt	6	18	10	7	0	2	3	1	3	2	0	4	4	2	4	1	1	1	3	1	1	1	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:71482777C>G	ENST00000393539.2	-	6	1964	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T	ZNF23_ENST00000417828.1_Missense_Mutation_p.R384T|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.R384T|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.R326T|ZNF23_ENST00000428724.2_Missense_Mutation_p.R326T|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGTGTGGATTCTCTGATGCTG	0.433																																																	0													70	64	66					16																	71482777		2198	4300	6498	SO:0001583	missense	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1151G>C	16.37:g.71482777C>G	ENSP00000377171:p.Arg384Thr		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R384T	ENST00000393539.2	37	c.1151	CCDS10900.1	16	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624366	0.28889	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000201	T	0.10766	0.0263	M	0.67625	2.065	0.29410	N	0.86128	P;D	0.89917	0.949;1.0	P;D	0.79784	0.636;0.993	T	0.00577	-1.1662	10	0.87932	D	0	-34.6092	8.0506	0.30575	0.0:0.8927:0.0:0.1073	.	384;384	B3KR55;P17027	.;ZNF23_HUMAN	T	384;384;384;326;326;184	ENSP00000377171:R384T;ENSP00000349796:R384T;ENSP00000395712:R384T;ENSP00000387673:R326T	ENSP00000349796:R384T	R	-	2	0	ZNF23	70040278	0.000000	0.05858	0.995000	0.50966	0.939000	0.58152	0.820000	0.27323	2.595000	0.87683	0.555000	0.69702	AGA	ZNF23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.433	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	0	102	0	C	NM_145911		71482777	-1	tier1	-	no_errors	ENST00000357254	ensembl	human	known	74_37	missense	26.67	66	24	SNP	0.921	G	G	71482777	C	G	71482777	3	3	33	1	0	0	0	0	1	0	0	0	17831	913	32	5	784	5	ZNF23	16	71482777	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	40524278	71482777	18871976	135	7935											
ZNF821	55565	genome.wustl.edu	37	chr16	71894238	71894238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtctgtctcctgcatgcGctgcaagcgcttggcttcac	4	12	10	15	3	3	0	1	0	2	0	5	0	3	0	1	1	4	5	1	1	1	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:71894238G>A	ENST00000565601.1	-	7	1329	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ZNF821_ENST00000446827.2_Missense_Mutation_p.R266C|ZNF821_ENST00000425432.1_Missense_Mutation_p.R308C|ZNF821_ENST00000564134.1_3'UTR|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.R266C	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TCCTGCATGCGCTGCAAGCGC	0.677																																																	0													34	33	33					16																	71894238		2198	4300	6498	SO:0001583	missense	0			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"Zinc fingers, C2H2-type"	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.922C>T	16.37:g.71894238G>A	ENSP00000455648:p.Arg308Cys		A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R308C	ENST00000565601.1	37	c.922	CCDS56006.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073616	0.76415	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.02837	5.68;4.14;4.14	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	L	0.60067	1.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.99	T	0.00013	-1.2421	10	0.87932	D	0	-9.183	20.4214	0.99039	0.0:0.0:1.0:0.0	.	308;266;308	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	C	308;266;266	ENSP00000398089:R308C;ENSP00000313822:R266C;ENSP00000405908:R266C	ENSP00000313822:R266C	R	-	1	0	ZNF821	70451739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.699000	0.61796	2.820000	0.97059	0.655000	0.94253	CGC	ZNF821	-	NULL	ENSG00000102984		0.677	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	HGNC	protein_coding	OTTHUMT00000434180.1		0	69	0	G	NM_017530		71894238	-1			no_errors	ENST00000425432	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	71894238	G	A	71894238	3	1	33	1	0	0	0	0	1	0	0	0	18226	1087	38	1	320	1	ZNF821	16	71894238	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	411461	71894238	18460515	136	7936											
DPEP1	1800	genome.wustl.edu	37	chr16	89704484	89704484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacctcacacaggctcccGaggaggagcccatcccgctg	9	4	11	17	2	1	0	1	0	0	0	3	3	3	2	4	3	2	3	4	3	1	0	rs147872447		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:89704484G>A	ENST00000393092.3	+	11	1381	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	DPEP1_ENST00000421184.1_Missense_Mutation_p.E364K|DPEP1_ENST00000261615.4_Missense_Mutation_p.E364K	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	364					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACAGGCTCCCGAGGAGGAGCC	0.682																																																	0									LYS/GLU,LYS/GLU	1,4373	2.1+/-5.4	0,1,2186	36	41	39		1090,1090	4.3	0.2	16	dbSNP_134	39	2,8584	2.2+/-6.3	0,2,4291	no	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	56,56	0,3,6477	AA,AG,GG		0.0233,0.0229,0.0231	benign,benign	364/412,364/412	89704484	3,12957	2187	4293	6480	SO:0001583	missense	0				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.1090G>A	16.37:g.89704484G>A	ENSP00000376807:p.Glu364Lys		D3DX80|Q96AK2	Missense_Mutation	SNP	pfam_Peptidase_M19	p.E364K	ENST00000393092.3	37	c.1090	CCDS10982.1	16	.	.	.	.	.	.	.	.	.	.	g	9.645	1.140025	0.21205	2.29E-4	2.33E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.21734	1.99;1.99;1.99	5.31	4.27	0.50696	.	0.278836	0.39544	N	0.001322	T	0.22085	0.0532	M	0.73962	2.25	0.09310	N	1	B	0.30281	0.275	B	0.17722	0.019	T	0.11251	-1.0595	10	0.28530	T	0.3	-0.7199	11.9118	0.52743	0.0:0.0:0.8143:0.1857	.	364	P16444	DPEP1_HUMAN	K	364	ENSP00000397313:E364K;ENSP00000376807:E364K;ENSP00000261615:E364K	ENSP00000261615:E364K	E	+	1	0	DPEP1	88231985	0.983000	0.35010	0.176000	0.23000	0.650000	0.38633	2.326000	0.43849	2.483000	0.83821	0.556000	0.70494	GAG	DPEP1	-	NULL	ENSG00000015413		0.682	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1	-	0	91	0	G	NM_001128141		89704484	1	tier1	rs147872447	no_errors	ENST00000261615	ensembl	human	known	74_37	missense	10.11	80	9	SNP	0.012	A	A	89704484	G	A	89704484	3	1	33	1	0	0	0	0	1	0	0	0	4727	1059	37	1	1128	1	DPEP1	16	89704484	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	17810246	89704484	650269	137	7937											
C16orf55	124045	genome.wustl.edu	37	chr16	89735825	89735825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accagcagagaaccattcggGagccggaggactggggcccc	10	3	15	13	2	0	1	0	0	0	1	1	5	0	4	5	5	3	1	5	5	1	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:89735825G>A	ENST00000301031.4	+	3	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SPATA33_ENST00000579310.1_Missense_Mutation_p.E115K	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AACCATTCGGGAGCCGGAGGA	0.547																																																	0													66	73	71					16																	89735825		2198	4300	6498	SO:0001583	missense	0			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"chromosome 16 open reading frame 55"	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.340G>A	16.37:g.89735825G>A	ENSP00000301031:p.Glu114Lys		A8WFL2|B4DZN8	Missense_Mutation	SNP	NULL	p.E115K	ENST00000301031.4	37	c.343	CCDS10983.1	16	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062152	0.36373	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.59772	0.24	4.5	4.5	0.54988	.	0.000000	0.40222	N	0.001159	T	0.64681	0.2620	L	0.34521	1.04	0.09310	N	0.999995	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.57849	-0.7740	10	0.66056	D	0.02	-26.8736	13.0645	0.59025	0.0:0.0:1.0:0.0	.	115;114	B4DZN8;Q96N06	.;CP055_HUMAN	K	114;115	ENSP00000301031:E114K	ENSP00000301031:E114K	E	+	1	0	C16orf55	88263326	0.866000	0.29940	0.029000	0.17559	0.019000	0.09904	3.964000	0.56780	2.225000	0.72522	0.579000	0.79373	GAG	SPATA33	-	NULL	ENSG00000167523		0.547	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA33	HGNC	protein_coding	OTTHUMT00000269924.2	-	0	84	0	G	NM_153025		89735825	1	tier1	-	no_errors	ENST00000579310	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.110	A	A	89735825	G	A	89735825	3	1	33	1	0	0	0	0	1	0	0	0	1825	1175	41	3	350	3	C16orf55	16	89735825	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	31341	89735825	618928	138	7938											
ITGAE	3682	genome.wustl.edu	37	chr17	3665243	3665243	+	Frame_Shift_Del	DEL	C	C	-																															ggctccggacaacggtcactCcccggtgcctccccttgggg																										TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:3665243delC	ENST00000263087.4	-	4	379	c.281delG	c.(280-282)ggafs	p.G94fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	94					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AACGGTCACTCCCCGGTGCCT	0.627																																					NSCLC(182;635 2928 8995 38788)												0													76	53	61					17																	3665243		2203	4300	6503	SO:0001589	frameshift_variant	0			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.281delG	17.37:g.3665243delC	ENSP00000263087:p.Gly94fs		Q17RS6|Q9NZU9	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.G94fs	ENST00000263087.4	37	c.281	CCDS32531.1	17																																																																																			ITGAE	-	NULL	ENSG00000083457		0.627	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1		0	18	0	C	NM_002208		3665243	-1	tier1		no_errors	ENST00000263087	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.517	-	-	3665243	C	-	3665243	7	5	33	1	0	1	0	1	0	0	0	0	7912	855	30	0	3370	0	ITGAE	17	3665243	Frame_Shift_Del	DEL	C	TCGA-IG-A97I-01A-11D-A387-09		3665243	77529967	139	7939											
ALOX15	246	genome.wustl.edu	37	chr17	4536468	4536468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatttcccagagccgcagcGcatcttgggcatagaaggaa	11	8	12	10	2	1	3	0	1	1	2	2	4	2	4	2	2	2	3	2	2	3	3	rs143347429		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:4536468G>A	ENST00000570836.1	-	11	1487	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	ALOX15_ENST00000574640.1_Missense_Mutation_p.A425V|ALOX15_ENST00000545513.1_Missense_Mutation_p.A486V|ALOX15_ENST00000293761.3_Missense_Mutation_p.A464V			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	464	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A464V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GAGCCGCAGCGCATCTTGGGC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)						G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	48	49	49		1391	3.8	0.7	17	dbSNP_134	49	0,8600		0,0,4300	no	missense	ALOX15	NM_001140.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	464/663	4536468	1,13005	2203	4300	6503	SO:0001583	missense	0			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1391C>T	17.37:g.4536468G>A	ENSP00000458832:p.Ala464Val		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.A486V	ENST00000570836.1	37	c.1457	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199962	0.58126	2.27E-4	0.0	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.79247	-1.25;-1.25	3.79	3.79	0.43588	Lipoxygenase, C-terminal (3);	0.242221	0.33959	N	0.004397	D	0.84687	0.5527	M	0.89601	3.045	0.22666	N	0.998877	D;D;D	0.69078	0.996;0.987;0.997	P;P;P	0.53224	0.489;0.721;0.624	T	0.78339	-0.2242	10	0.62326	D	0.03	-12.7869	9.2788	0.37716	0.0:0.2213:0.7787:0.0	.	486;425;464	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	V	464;486	ENSP00000293761:A464V;ENSP00000439855:A486V	ENSP00000293761:A464V	A	-	2	0	ALOX15	4483217	0.953000	0.32496	0.722000	0.30670	0.735000	0.41995	2.216000	0.42871	1.953000	0.56701	0.491000	0.48974	GCG	ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000161905		0.597	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2		0	42	0	G			4536468	-1			no_errors	ENST00000545513	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.479	A	A	4536468	G	A	4536468	3	1	33	1	0	0	0	0	1	0	0	0	538	1087	38	1	617	1	ALOX15	17	4536468	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	871225	4536468	76658742	140	7940											
ALOX12	239	genome.wustl.edu	37	chr17	6904970	6904970	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaacactgttcctgccctCagaccccccacttgcctggc	6	8	6	21	0	1	1	1	0	0	1	2	1	2	1	7	1	3	1	7	1	1	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:6904970C>G	ENST00000251535.6	+	8	1054	c.1001C>G	c.(1000-1002)tCa>tGa	p.S334*	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	334	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TTCCTGCCCTCAGACCCCCCA	0.507																																																	0													150	151	150					17																	6904970		2203	4300	6503	SO:0001587	stop_gained	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"Arachidonate lipoxygenases"	429	protein-coding gene	gene with protein product	"platelet 12-LOX"	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1001C>G	17.37:g.6904970C>G	ENSP00000251535:p.Ser334*		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.S334*	ENST00000251535.6	37	c.1001	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363996	0.82353	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.9	4.9	0.64082	.	0.400573	0.22442	N	0.060004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.2981	15.9493	0.79820	0.0:1.0:0.0:0.0	.	.	.	.	X	334	.	ENSP00000251535:S334X	S	+	2	0	ALOX12	6845694	0.008000	0.16893	0.988000	0.46212	0.627000	0.37826	0.377000	0.20552	2.699000	0.92147	0.573000	0.79308	TCA	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000108839		0.507	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	-	0	69	0	C			6904970	1	tier1	-	no_errors	ENST00000251535	ensembl	human	known	74_37	nonsense	30.00	48	21	SNP	0.946	G	G	6904970	C	G	6904970	4	3	33	1	0	0	0	0	0	1	0	0	536	838	29	5	1031	5	ALOX12	17	6904970	Nonsense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	2368502	6904970	74290240	141	7941											
TP53	7157	genome.wustl.edu	37	chr17	7572939	7572939	+	Frame_Shift_Del	DEL	A	A	-																															ggagaatgtcagtctgagtcAggcccttctgtcttgaacat																										TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:7572939delA	ENST00000269305.4	-	11	1359	c.1170delT	c.(1168-1170)cctfs	p.P390fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.P390fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	390	Interaction with CARM1.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGTCTGAGTCAGGCCCTTCTG	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	9	Whole gene deletion(8)|Unknown(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											284	253	264					17																	7572939		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1170delT	17.37:g.7572939delA	ENSP00000269305:p.Pro390fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.D391fs	ENST00000269305.4	37	c.1170	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	70	0	A	NM_000546		7572939	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	31.65	54	25	DEL	0.078	-	-	7572939	A	-	7572939	7	5	33	1	0	1	0	1	0	0	0	0	16429	175	7	0	15	0	TP53	17	7572939	Frame_Shift_Del	DEL	A	TCGA-IG-A97I-01A-11D-A387-09	667969	7572939	73622271	142	7942	32	2									
TP53	7157	genome.wustl.edu	37	chr17	7572940	7572940	+	Missense_Mutation	SNP	G	G	T																															gagaatgtcagtctgagtcaGgcccttctgtcttgaacatg																										TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:7572940G>T	ENST00000269305.4	-	11	1358	c.1169C>A	c.(1168-1170)cCt>cAt	p.P390H	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.P390H|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	390	Interaction with CARM1.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTGAGTCAGGCCCTTCTGT	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	9	Whole gene deletion(8)|Unknown(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											285	254	265					17																	7572940		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1169C>A	17.37:g.7572940G>T	ENSP00000269305:p.Pro390His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P390H	ENST00000269305.4	37	c.1169	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080631	0.36758	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	D;D	0.99264	-5.65;-5.65	5.31	2.27	0.28462	.	0.773311	0.12802	N	0.437957	D	0.98852	0.9612	M	0.75447	2.3	0.09310	N	1	D	0.59767	0.986	P	0.55999	0.789	D	0.95970	0.8969	10	0.87932	D	0	-7.0105	7.128	0.25484	0.2739:0.0:0.7261:0.0	.	390	P04637	P53_HUMAN	H	390;390;379;41	ENSP00000269305:P390H;ENSP00000391478:P390H	ENSP00000269305:P390H	P	-	2	0	TP53	7513665	0.888000	0.30383	0.062000	0.19696	0.196000	0.23810	1.343000	0.33930	0.390000	0.25115	0.561000	0.74099	CCT	TP53	-	NULL	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	71	0	G	NM_000546		7572940	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	31.65	54	25	SNP	0.066	T	T	7572940	G	T	7572940	3	4	33	1	0	0	0	0	1	0	0	0	16429	1000	35	3	16	3	TP53	17	7572940	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	1	7572940	73622270	143	7943	32	2									
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	64	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	23.08	49	15	SNP	1.000	T	T	7577538	C	T	7577538	3	4	33	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	4598	7577538	73617672	144	7944											
SPOP	8405	genome.wustl.edu	37	chr17	47688654	47688654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataccaacctgctaagatagCcttgtgagcctggaattcct	11	11	8	11	0	0	2	0	1	0	1	1	3	1	3	5	1	5	1	5	1	5	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:47688654C>T	ENST00000393328.2	-	7	1011	c.646G>A	c.(646-648)Gct>Act	p.A216T	SPOP_ENST00000347630.2_Missense_Mutation_p.A216T|SPOP_ENST00000504102.1_Missense_Mutation_p.A216T|SPOP_ENST00000503676.1_Missense_Mutation_p.A216T|SPOP_ENST00000393331.3_Missense_Mutation_p.A216T	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	216	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCTAAGATAGCCTTGTGAGCC	0.443										Prostate(2;0.17)																																							0													95	99	97					17																	47688654		2203	4300	6503	SO:0001583	missense	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.646G>A	17.37:g.47688654C>T	ENSP00000377001:p.Ala216Thr		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.A216T	ENST00000393328.2	37	c.646	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.398263	0.96030	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.46	5.46	0.80206	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.82723	-0.0316	10	0.28530	T	0.3	-13.5228	19.0836	0.93192	0.0:1.0:0.0:0.0	.	216	O43791	SPOP_HUMAN	T	216;216;216;216;100;216;169;216;216	ENSP00000377001:A216T;ENSP00000377004:A216T;ENSP00000240327:A216T;ENSP00000425905:A216T;ENSP00000420908:A216T;ENSP00000426986:A216T;ENSP00000420960:A216T	ENSP00000240327:A216T	A	-	1	0	SPOP	45043653	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.872000	0.48467	2.847000	0.97988	0.591000	0.81541	GCT	SPOP	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000121067		0.443	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	-	0	76	0	C	NM_003563		47688654	-1	tier1	-	no_errors	ENST00000347630	ensembl	human	known	74_37	missense	33.33	56	28	SNP	1.000	T	T	47688654	C	T	47688654	3	4	33	1	0	0	0	0	1	0	0	0	15131	739	26	3	498	3	SPOP	17	47688654	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	40111116	47688654	33506556	145	7945											
MPO	4353	genome.wustl.edu	37	chr17	56357257	56357257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctccagcaggtctaGagccacgtgcaggtagtcag	8	9	11	13	1	3	1	1	0	2	1	5	1	4	1	3	2	3	3	3	2	2	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:56357257G>A	ENST00000225275.3	-	3	543	c.367C>T	c.(367-369)Cta>Tta	p.L123L	MPO_ENST00000340482.3_Silent_p.L123L|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	123					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGCAGGTCTAGAGCCACGTGC	0.622																																																	0													47	42	44					17																	56357257		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.367C>T	17.37:g.56357257G>A			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L123	ENST00000225275.3	37	c.367	CCDS11604.1	17																																																																																			MPO	-	NULL	ENSG00000005381		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0	59	0	G			56357257	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	silent	35.19	35	19	SNP	0.957	A	A	56357257	G	A	56357257	2	1	33	1	0	0	0	0	0	0	0	1	9770	933	33	3		3	MPO	17	56357257	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	8668603	56357257	24837953	146	7946											
INTS2	57508	genome.wustl.edu	37	chr17	59955383	59955383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtataagttcactggcaGagagtagagtcaagtgttct	12	12	12	5	0	3	2	2	0	1	2	3	3	3	2	0	2	0	5	0	2	4	5			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:59955383G>A	ENST00000444766.3	-	18	2420	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	INTS2_ENST00000251334.6_Missense_Mutation_p.S774F	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	782					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTCACTGGCAGAGAGTAGAGT	0.368																																																	0													132	119	123					17																	59955383		1864	4103	5967	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2345C>T	17.37:g.59955383G>A	ENSP00000414237:p.Ser782Phe		Q9ULD3	Missense_Mutation	SNP	NULL	p.S782F	ENST00000444766.3	37	c.2345	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596410	0.86953	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.47869	0.83	5.56	5.56	0.83823	.	0.112963	0.64402	D	0.000007	T	0.64875	0.2638	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	T	0.63229	-0.6684	9	.	.	.	-14.882	14.1588	0.65434	0.0:0.1497:0.8503:0.0	.	782	Q9H0H0	INT2_HUMAN	F	782;781	ENSP00000414237:S782F	.	S	-	2	0	INTS2	57310165	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.733000	0.68571	2.585000	0.87301	0.650000	0.86243	TCT	INTS2	-	NULL	ENSG00000108506		0.368	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	-	0	47	0	G	NM_020748		59955383	-1	tier1	-	no_errors	ENST00000444766	ensembl	human	known	74_37	missense	38.46	32	20	SNP	1.000	A	A	59955383	G	A	59955383	3	1	33	1	0	0	0	0	1	0	0	0	7805	942	33	3	1301	3	INTS2	17	59955383	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	3598126	59955383	21239827	147	7947											
YES1	7525	genome.wustl.edu	37	chr18	748017	748017	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcttcccaccaatctccttCcctgcaacacataaaacagc	12	9	3	17	0	1	0	0	0	1	0	4	0	3	0	4	0	5	2	4	0	4	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:748017C>G	ENST00000584307.1	-	4	543	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	YES1_ENST00000314574.4_Splice_Site_p.E125Q|YES1_ENST00000577961.1_Splice_Site_p.E130Q			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	125	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CAATCTCCTTCCCTGCAACAC	0.423																																																	0													165	146	152					18																	748017		2203	4300	6503	SO:0001630	splice_region_variant	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.372-1G>C	18.37:g.748017C>G			A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E125Q	ENST00000584307.1	37	c.373	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689064	0.68271	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.46819	0.86	5.64	5.64	0.86602	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.38953	1.18	0.80722	D	1	B	0.23735	0.09	B	0.21360	0.034	T	0.16748	-1.0392	10	0.38643	T	0.18	.	20.0556	0.97650	0.0:1.0:0.0:0.0	.	125	P07947	YES_HUMAN	Q	125	ENSP00000324740:E125Q	ENSP00000324740:E125Q	E	-	1	0	YES1	738017	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.675000	0.84002	2.821000	0.97095	0.484000	0.47621	GAA	YES1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000176105		0.423	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0	37	0	C	NM_005433	Missense_Mutation	748017	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	G	G	748017	C	G	748017	5	3	33	1	0	0	0	0	0	0	1	0	17523	869	30	5	1294	5	YES1	18	748017	Splice_Site	SNP	C	TCGA-IG-A97I-01A-11D-A387-09		748017	77329231	148	7948											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14850252	14850252	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaagagaagagaagaaatgtCgatatattaaaagaaaaaat	24	7	9	1	1	0	4	0	0	0	4	1	8	0	4	0	0	0	0	0	0	11	3	rs4090321	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:14850252C>G	ENST00000358984.4	+	35	3258	c.3078C>G	c.(3076-3078)gtC>gtG	p.V1026V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1026										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGAAATGTCGATATATTAA	0.284																																																	0													46	40	42					18																	14850252		691	1575	2266	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3078C>G	18.37:g.14850252C>G			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V1026	ENST00000358984.4	37	c.3078	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	58	0	C	NM_001145029		14850252	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	22.54	55	16	SNP	0.904	G	G	14850252	C	G	14850252	2	3	33	1	0	0	0	0	0	0	0	1	659	871	31	5		5	ANKRD30B	18	14850252	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	14102235	14850252	63226996	149	7949											
ELP2	55250	genome.wustl.edu	37	chr18	33744537	33744537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttgacagtcacgcagatgGccttctcacctaatgagaag	11	10	10	10	1	2	3	2	2	1	2	3	4	2	3	2	1	0	2	2	1	2	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:33744537G>A	ENST00000358232.6	+	18	1924	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	ELP2_ENST00000351393.6_Missense_Mutation_p.A595T|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.A616T|ELP2_ENST00000423854.2_Missense_Mutation_p.A551T|ELP2_ENST00000442325.2_Missense_Mutation_p.A686T|ELP2_ENST00000542824.1_Missense_Mutation_p.A551T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	621				A -> T (in Ref. 3; BAG63452). {ECO:0000305}.	chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CACGCAGATGGCCTTCTCACC	0.433																																																	0													109	102	105					18																	33744537		2203	4300	6503	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1861G>A	18.37:g.33744537G>A	ENSP00000350967:p.Ala621Thr		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A621T	ENST00000358232.6	37	c.1861	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988826	0.74589	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.79	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048036	0.85682	N	0.000000	T	0.61627	0.2362	M	0.62154	1.92	0.80722	D	1	B;B;B;B;B;B	0.31859	0.343;0.343;0.05;0.01;0.003;0.183	B;B;B;B;B;B	0.36186	0.219;0.219;0.125;0.027;0.019;0.125	T	0.60515	-0.7248	10	0.37606	T	0.19	-6.7105	13.0818	0.59117	0.0787:0.0:0.9213:0.0	.	616;686;551;551;595;621	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	T	621;595;686;551;616;551	ENSP00000350967:A621T;ENSP00000257191:A595T;ENSP00000414851:A686T;ENSP00000391202:A551T;ENSP00000316051:A616T;ENSP00000443800:A551T	ENSP00000316051:A616T	A	+	1	0	ELP2	31998535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.725000	0.61979	1.419000	0.47118	0.655000	0.94253	GCC	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.433	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	-	0	131	0	G	NM_018255		33744537	1	tier1	-	no_errors	ENST00000358232	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	33744537	G	A	33744537	3	1	33	1	0	0	0	0	1	0	0	0	5096	1203	42	3	1931	3	ELP2	18	33744537	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	18894285	33744537	44332711	150	7950											
PIK3C3	5289	genome.wustl.edu	37	chr18	39637872	39637872	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccacatagactttggAtatattttgggtcgggatcc	8	15	9	9	1	1	1	0	0	1	1	4	3	3	3	2	3	0	0	2	3	3	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:39637872A>T	ENST00000262039.4	+	22	2375	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	PIK3C3_ENST00000588156.1_5'UTR|PIK3C3_ENST00000593098.1_Silent_p.G248G|PIK3C3_ENST00000398870.3_Silent_p.G700G	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	763	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TAGACTTTGGATATATTTTGG	0.423										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0													68	68	68					18																	39637872		2203	4300	6503	SO:0001819	synonymous_variant	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"phosphoinositide-3-kinase, class 3"			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2289A>T	18.37:g.39637872A>T			Q15134	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.G763	ENST00000262039.4	37	c.2289	CCDS11920.1	18																																																																																			PIK3C3	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	ENSG00000078142		0.423	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	-	0	57	0	A	NM_002647		39637872	1	tier1	-	no_errors	ENST00000262039	ensembl	human	known	74_37	silent	59.70	27	40	SNP	0.993	T	T	39637872	A	T	39637872	2	4	33	1	0	0	0	0	0	0	0	1	11951	320	12	5		5	PIK3C3	18	39637872	Silent	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	5893335	39637872	38439376	151	7951											
ZNRF4	148066	genome.wustl.edu	37	chr19	5456256	5456256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgggctgtcaccccgtgCtgaccgtgtcctgggtgctg	3	10	14	14	2	1	1	1	1	0	0	2	1	2	1	5	2	2	3	5	2	0	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:5456256C>T	ENST00000222033.4	+	1	831	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	252						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TCACCCCGTGCTGACCGTGTC	0.677																																																	0													44	47	46					19																	5456256		2170	4261	6431	SO:0001819	synonymous_variant	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.754C>T	19.37:g.5456256C>T			A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L252	ENST00000222033.4	37	c.754	CCDS42475.1	19																																																																																			ZNRF4	-	NULL	ENSG00000105428		0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	-	0	59	0	C	NM_181710		5456256	1	tier1	-	no_errors	ENST00000222033	ensembl	human	known	74_37	silent	38.00	31	19	SNP	0.042	T	T	5456256	C	T	5456256	2	4	33	1	0	0	0	0	0	0	0	1	18262	796	28	3		3	ZNRF4	19	5456256	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09		5456256	53672727	152	7952											
FBN3	84467	genome.wustl.edu	37	chr19	8203386	8203386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcgagtgtagtggcCggcgaggtctccagcacagc	6	7	15	13	3	1	0	0	0	1	0	2	2	1	0	3	3	4	2	3	3	1	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:8203386C>T	ENST00000600128.1	-	9	1342	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	FBN3_ENST00000601739.1_Missense_Mutation_p.G310S|FBN3_ENST00000270509.2_Missense_Mutation_p.G310S			Q75N90	FBN3_HUMAN	fibrillin 3	310	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGTAGTGGCCGGCGAGGTCT	0.652																																																	0													23	25	25					19																	8203386		2201	4299	6500	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.928G>A	19.37:g.8203386C>T	ENSP00000470498:p.Gly310Ser		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G310S	ENST00000600128.1	37	c.928	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	c	13.90	2.374613	0.42105	.	.	ENSG00000142449	ENST00000270509	D	0.93953	-3.32	4.06	4.06	0.47325	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.96654	0.8908	M	0.88031	2.925	0.43885	D	0.996502	D	0.89917	1.0	D	0.78314	0.991	D	0.96021	0.9009	10	0.18276	T	0.48	.	16.1794	0.81889	0.0:1.0:0.0:0.0	.	310	Q75N90	FBN3_HUMAN	S	310	ENSP00000270509:G310S	ENSP00000270509:G310S	G	-	1	0	FBN3	8109386	0.948000	0.32251	0.032000	0.17829	0.008000	0.06430	2.859000	0.48364	1.974000	0.57490	0.556000	0.70494	GGC	FBN3	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN	ENSG00000142449		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	38	0	C	NM_032447		8203386	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.999	T	T	8203386	C	T	8203386	3	4	33	1	0	0	0	0	1	0	0	0	5726	652	23	1	7725	1	FBN3	19	8203386	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	2747130	8203386	50925597	153	7953											
ACTL9	284382	genome.wustl.edu	37	chr19	8808930	8808930	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggcagcctgtcggccAccatgccggggaagtcccgc	5	7	15	14	3	0	0	0	0	0	0	2	1	1	1	5	5	2	1	5	5	1	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:8808930A>C	ENST00000324436.3	-	1	242	c.122T>G	c.(121-123)gTg>gGg	p.V41G		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	41						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCTGTCGGCCACCATGCCGGG	0.652																																																	0													37	47	44					19																	8808930		2198	4295	6493	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.122T>G	19.37:g.8808930A>C	ENSP00000316674:p.Val41Gly		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V41G	ENST00000324436.3	37	c.122	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	A	15.20	2.761815	0.49468	.	.	ENSG00000181786	ENST00000324436	D	0.94758	-3.51	3.12	3.12	0.35913	.	1.221350	0.06314	U	0.703184	D	0.90504	0.7025	L	0.39898	1.24	0.48236	D	0.999617	B	0.31611	0.331	B	0.23150	0.044	D	0.85421	0.1143	10	0.87932	D	0	.	7.9999	0.30291	1.0:0.0:0.0:0.0	.	41	Q8TC94	ACTL9_HUMAN	G	41	ENSP00000316674:V41G	ENSP00000316674:V41G	V	-	2	0	ACTL9	8669930	0.002000	0.14202	0.713000	0.30519	0.107000	0.19398	0.598000	0.24074	1.677000	0.50941	0.379000	0.24179	GTG	ACTL9	-	NULL	ENSG00000181786		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	-	0	114	0	A	NM_178525		8808930	-1	tier1	-	no_errors	ENST00000324436	ensembl	human	known	74_37	missense	6.56	114	8	SNP	0.942	C	C	8808930	A	C	8808930	3	2	33	1	0	0	0	0	1	0	0	0	203	159	6	4	1132	4	ACTL9	19	8808930	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	605544	8808930	50320053	154	7954											
OR7E24	26648	genome.wustl.edu	37	chr19	9361752	9361752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaattctctttttttttttCctcaaaaggtgtccgagcta	8	18	5	10	1	2	0	1	0	1	0	5	1	4	0	3	1	1	1	3	1	4	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:9361752C>T	ENST00000456448.1	+	1	147	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTTTTTTTTTCCTCAAAAGGT	0.418																																																	0													45	47	46					19																	9361752		1918	4154	6072	SO:0001819	synonymous_variant	0			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"GPCR / Class A : Olfactory receptors"	8396	protein-coding gene	gene with protein product			"olfactory receptor, family 7, subfamily E, member 24 pseudogene"	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.33C>T	19.37:g.9361752C>T			B9EJD9|Q9UPJ1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F11	ENST00000456448.1	37	c.33	CCDS45955.1	19																																																																																			OR7E24	-	NULL	ENSG00000237521		0.418	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7E24	HGNC	protein_coding	OTTHUMT00000449006.1		0	83	0	C			9361752	1			no_errors	ENST00000456448	ensembl	human	known	74_37	silent	5.56	85	5	SNP	0.000	T	T	9361752	C	T	9361752	2	4	33	1	0	0	0	0	0	0	0	1	11260	854	30	3		3	OR7E24	19	9361752	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	552822	9361752	49767231	155	7955											
CHST8	64377	genome.wustl.edu	37	chr19	34263467	34263467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagatgctctttgtccgCgagcccttcgagaggctggt	7	10	12	12	3	1	2	0	0	1	2	3	4	2	2	3	2	2	2	3	2	1	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:34263467C>T	ENST00000262622.4	+	4	1532	c.774C>T	c.(772-774)cgC>cgT	p.R258R	CHST8_ENST00000434302.1_Silent_p.R258R|CHST8_ENST00000438847.3_Silent_p.R258R	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	258					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCTTTGTCCGCGAGCCCTTCG	0.612																																																	0													110	102	105					19																	34263467		2203	4300	6503	SO:0001819	synonymous_variant	0			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.774C>T	19.37:g.34263467C>T			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.R258	ENST00000262622.4	37	c.774	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase	ENSG00000124302		0.612	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	-	0	87	0	C	NM_022467		34263467	1	tier1	-	no_errors	ENST00000262622	ensembl	human	known	74_37	silent	32.89	50	25	SNP	0.385	T	T	34263467	C	T	34263467	2	4	33	1	0	0	0	0	0	0	0	1	3417	755	27	1		1	CHST8	19	34263467	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	24901715	34263467	24865516	156	7956											
ZNF607	84775	genome.wustl.edu	37	chr19	38189230	38189230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaataataagatgtgaaGcatgactaaaagtttcccca	17	10	7	7	0	0	4	0	3	0	1	1	4	1	4	2	0	1	2	2	0	6	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:38189230G>A	ENST00000355202.4	-	5	2397	c.1802C>T	c.(1801-1803)gCt>gTt	p.A601V	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.A600V	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AAGATGTGAAGCATGACTAAA	0.388																																																	0													63	60	61					19																	38189230		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1802C>T	19.37:g.38189230G>A	ENSP00000347338:p.Ala601Val		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A601V	ENST00000355202.4	37	c.1802	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738188	0.49045	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.34275	1.37;1.37	1.96	-3.91	0.04168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17023	0.0409	N	0.21240	0.645	0.09310	N	1	B;B	0.30406	0.005;0.278	B;B	0.31442	0.002;0.13	T	0.23547	-1.0185	9	0.20046	T	0.44	.	1.5033	0.02481	0.2266:0.2727:0.3643:0.1363	.	601;600	Q96SK3;F5H141	ZN607_HUMAN;.	V	601;600	ENSP00000347338:A601V;ENSP00000438015:A600V	ENSP00000347338:A601V	A	-	2	0	ZNF607	42881070	0.000000	0.05858	0.000000	0.03702	0.907000	0.53573	-6.454000	0.00065	-1.281000	0.02399	0.462000	0.41574	GCT	ZNF607	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.388	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0	54	0	G	NM_032689		38189230	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	missense	32.14	57	27	SNP	0.000	A	A	38189230	G	A	38189230	3	1	33	1	0	0	0	0	1	0	0	0	18081	971	34	3	292	3	ZNF607	19	38189230	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	3925763	38189230	20939753	157	7957											
EML2	24139	genome.wustl.edu	37	chr19	46129982	46129982	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcaaagaggccttgccgcTtgctcaagctgcccccctcc	6	8	8	19	1	2	1	2	0	0	1	3	1	3	1	7	1	4	3	7	1	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:46129982T>A	ENST00000245925.3	-	8	772	c.722A>T	c.(721-723)aAg>aTg	p.K241M	EML2_ENST00000587152.1_Missense_Mutation_p.K442M|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Missense_Mutation_p.K388M|EML2_ENST00000589876.1_Missense_Mutation_p.K241M	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	241	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCCTTGCCGCTTGCTCAAGCT	0.602																																																	0													90	90	90					19																	46129982		2203	4300	6503	SO:0001583	missense	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.722A>T	19.37:g.46129982T>A	ENSP00000245925:p.Lys241Met		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K442M	ENST00000245925.3	37	c.1325	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287003	0.80803	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.32023	1.47;1.58;4.96	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.79693	2.465	0.80722	D	1	P;D;D;P;D	0.65815	0.913;0.978;0.995;0.846;0.989	P;P;P;B;P	0.57244	0.723;0.792;0.816;0.365;0.792	T	0.57802	-0.7748	10	0.72032	D	0.01	-24.7813	12.1689	0.54146	0.0:0.0:0.0:1.0	.	241;407;388;399;241	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	M	388;241;442;399	ENSP00000442365:K388M;ENSP00000245925:K241M;ENSP00000382503:K399M	ENSP00000245925:K241M	K	-	2	0	EML2	50821822	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.354000	0.79424	1.970000	0.57323	0.455000	0.32223	AAG	EML2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000125746		0.602	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	-	0	87	0	T	NM_012155		46129982	-1	tier1	-	no_errors	ENST00000587152	ensembl	human	known	74_37	missense	32.50	54	26	SNP	1.000	A	A	46129982	T	A	46129982	3	1	33	1	0	0	0	0	1	0	0	0	5113	1609	56	5	1275	5	EML2	19	46129982	Missense_Mutation	SNP	T	TCGA-IG-A97I-01A-11D-A387-09	7940752	46129982	12999001	158	7958											
MEIS3	56917	genome.wustl.edu	37	chr19	47920156	47920156	+	Frame_Shift_Del	DEL	G	G	-																															cccagctccggccccgtcacGgggagagcatgtagccagtt																								rs372340229		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:47920156delG	ENST00000558555.1	-	3	437	c.250delC	c.(250-252)cgtfs	p.R84fs	MEIS3_ENST00000559524.1_Frame_Shift_Del_p.R84fs|MEIS3_ENST00000561096.1_Frame_Shift_Del_p.R172fs|MEIS3_ENST00000331559.5_Frame_Shift_Del_p.R84fs|MEIS3_ENST00000561293.1_Frame_Shift_Del_p.R84fs|MEIS3_ENST00000441740.2_Frame_Shift_Del_p.R84fs			Q99687	MEIS3_HUMAN	Meis homeobox 3	84					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GCCCCGTCACGGGGAGAGCAT	0.617																																																	0													23	25	24					19																	47920156		2203	4300	6503	SO:0001589	frameshift_variant	0			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.250delC	19.37:g.47920156delG	ENSP00000454073:p.Arg84fs		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Frame_Shift_Del	DEL	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R84fs	ENST00000558555.1	37	c.250		19																																																																																			MEIS3	-	NULL	ENSG00000105419		0.617	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1		0	61	0	G	XM_085929		47920156	-1	tier1		no_errors	ENST00000559524	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	47920156	G	-	47920156	7	5	33	1	0	1	0	1	0	0	0	0	9507	1116	39	0	1055	0	MEIS3	19	47920156	Frame_Shift_Del	DEL	G	TCGA-IG-A97I-01A-11D-A387-09	1790174	47920156	11208827	159	7959											
ZNF578	147660	genome.wustl.edu	37	chr19	53014575	53014575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacactggtgagaaacCttacaagtgtaatgaatgtg	14	11	10	6	0	1	2	1	2	0	1	1	3	1	2	1	1	2	1	1	1	5	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:53014575C>T	ENST00000421239.2	+	6	1185	c.941C>T	c.(940-942)cCt>cTt	p.P314L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGTGAGAAACCTTACAAGTGT	0.413																																																	0													100	103	102					19																	53014575		2203	4300	6503	SO:0001583	missense	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.941C>T	19.37:g.53014575C>T	ENSP00000459216:p.Pro314Leu		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P314L	ENST00000421239.2	37	c.941	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	12.98	2.101054	0.37048	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.51278	0.1665	M	0.80508	2.5	0.33283	D	0.562506	P	0.44380	0.834	B	0.38985	0.287	T	0.65150	-0.6238	7	.	.	.	.	9.8052	0.40789	0.0:1.0:0.0:0.0	.	314	G3V4F6	.	L	314	.	.	P	+	2	0	ZNF578	57706387	0.028000	0.19301	0.127000	0.21898	0.345000	0.29048	0.960000	0.29253	0.767000	0.33267	0.297000	0.19635	CCT	ZNF578	-	pfscan_Znf_C2H2	ENSG00000258405		0.413	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0	114	0	C	NM_152472		53014575	1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	30.36	78	34	SNP	0.980	T	T	53014575	C	T	53014575	3	4	33	1	0	0	0	0	1	0	0	0	18058	681	24	3	951	3	ZNF578	19	53014575	Missense_Mutation	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	5094419	53014575	6114408	160	7960											
ZNF343	79175	genome.wustl.edu	37	chr20	2464529	2464529	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttctcgctaaagcctcGcccacactcgctgcaaacat	10	9	6	16	3	1	1	0	1	1	0	4	1	1	1	2	0	3	3	2	0	3	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:2464529G>A	ENST00000278772.4	-	6	1565	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCG	0.507																																																	0													105	83	90					20																	2464529		2203	4300	6503	SO:0001587	stop_gained	0			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1078C>T	20.37:g.2464529G>A	ENSP00000278772:p.Arg360*		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R360*	ENST00000278772.4	37	c.1078	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.279448	0.97435	.	.	ENSG00000088876	ENST00000278772	.	.	.	3.09	-3.55	0.04639	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.7103	0.00923	0.2019:0.1504:0.2121:0.4356	.	.	.	.	X	360	.	ENSP00000278772:R360X	R	-	1	2	ZNF343	2412529	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.080000	0.14802	-0.421000	0.07416	0.591000	0.81541	CGA	ZNF343	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000088876		0.507	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1	-	0	91	0	G	NM_024325		2464529	-1	tier1	-	no_errors	ENST00000278772	ensembl	human	known	74_37	nonsense	16.84	79	16	SNP	0.166	A	A	2464529	G	A	2464529	4	1	33	1	0	0	0	0	0	1	0	0	17906	1095	38	1	725	1	ZNF343	20	2464529	Nonsense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09		2464529	60560991	161	7961											
CSE1L	1434	genome.wustl.edu	37	chr20	47682961	47682961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagaaatggcctgacttGctgacagaaatggtgaatcg	13	8	11	9	1	0	5	0	3	0	2	1	5	0	5	2	2	1	1	2	2	3	1			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:47682961G>T	ENST00000262982.2	+	5	513	c.390G>T	c.(388-390)ttG>ttT	p.L130F	CSE1L_ENST00000396192.3_Missense_Mutation_p.L130F|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	130					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGCCTGACTTGCTGACAGAAA	0.378																																																	0													130	126	128					20																	47682961		2203	4300	6503	SO:0001583	missense	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.390G>T	20.37:g.47682961G>T	ENSP00000262982:p.Leu130Phe		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L130F	ENST00000262982.2	37	c.390	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274362	0.59649	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.72167	-0.63;-0.63	5.57	0.979	0.19745	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.974;0.989	T	0.78252	-0.2276	10	0.51188	T	0.08	-8.8343	5.5365	0.17013	0.3505:0.2401:0.4095:0.0	.	130;130	F8W904;P55060	.;XPO2_HUMAN	F	130	ENSP00000262982:L130F;ENSP00000379495:L130F	ENSP00000262982:L130F	L	+	3	2	CSE1L	47116368	0.085000	0.21516	0.998000	0.56505	0.949000	0.60115	-0.182000	0.09726	0.310000	0.22990	-0.259000	0.10710	TTG	CSE1L	-	superfamily_ARM-type_fold	ENSG00000124207		0.378	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2		0	58	0	G	NM_001316		47682961	1			no_errors	ENST00000262982	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.894	T	T	47682961	G	T	47682961	3	4	33	1	0	0	0	0	1	0	0	0	3939	1310	46	3	404	3	CSE1L	20	47682961	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	45218432	47682961	15342559	162	7962											
ZNFX1	57169	genome.wustl.edu	37	chr20	47864704	47864704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgggcacctggcagataggGcagactttcaatctgatggc	10	9	13	9	0	2	3	1	1	1	2	2	3	2	3	1	4	0	3	1	4	2	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:47864704G>A	ENST00000396105.1	-	14	5103	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.C1619C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1619							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCAGATAGGGCAGACTTTCA	0.483																																																	0													62	61	61					20																	47864704		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4857C>T	20.37:g.47864704G>A			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.C1619	ENST00000396105.1	37	c.4857	CCDS13417.1	20																																																																																			ZNFX1	-	NULL	ENSG00000124201		0.483	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	-	0	30	0	G	NM_021035		47864704	-1	tier1	-	no_errors	ENST00000371752	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	A	A	47864704	G	A	47864704	2	1	33	1	0	0	0	0	0	0	0	1	18253	1195	42	3		3	ZNFX1	20	47864704	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	181743	47864704	15160816	163	7963											
BCAS4	55653	genome.wustl.edu	37	chr20	49434786	49434786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatcgagggcatgctcctCaggctggaagagttttgcag	9	9	13	10	1	1	1	1	0	0	1	3	3	2	2	2	3	2	5	2	3	1	2	rs200095102		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:49434786C>T	ENST00000358791.5	+	2	319	c.219C>T	c.(217-219)ctC>ctT	p.L73L	BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Silent_p.L73L|BCAS4_ENST00000609336.1_Silent_p.L43L|BCAS4_ENST00000371608.2_Silent_p.L73L	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	73						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GCATGCTCCTCAGGCTGGAAG	0.562											OREG0026033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	,,	0,4406		0,0,2203	75	57	63		219,219,219	-2.4	0	20		63	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	BCAS4	NM_001010974.1,NM_017843.3,NM_198799.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	73/159,73/212,73/204	49434786	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.219C>T	20.37:g.49434786C>T		962	Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Silent	SNP	NULL	p.L73	ENST00000358791.5	37	c.219	CCDS33487.1	20	.	.	.	.	.	.	.	.	.	.	C	6.645	0.487505	0.12641	0.0	3.49E-4	ENSG00000124243	ENST00000445038	.	.	.	5.05	-2.44	0.06502	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.29852	-0.9998	4	.	.	.	-5.3478	5.3153	0.15852	0.1076:0.2177:0.5231:0.1517	.	.	.	.	L	48	.	.	S	+	2	0	BCAS4	48868193	0.653000	0.27358	0.005000	0.12908	0.847000	0.48162	-0.306000	0.08178	-0.627000	0.05589	-0.321000	0.08615	TCA	BCAS4	-	NULL	ENSG00000124243		0.562	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS4	HGNC	protein_coding	OTTHUMT00000079700.1	-	0	54	0	C	NM_017843		49434786	1	tier1	rs200095102	no_errors	ENST00000358791	ensembl	human	known	74_37	silent	18.46	53	12	SNP	0.016	T	T	49434786	C	T	49434786	2	4	33	1	0	0	0	0	0	0	0	1	1354	813	29	3		3	BCAS4	20	49434786	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	1570082	49434786	13590734	164	7964											
CYP24A1	1591	genome.wustl.edu	37	chr20	52782302	52782302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttgatggccatgatgaaGttcacagcttcatcccctgc	8	13	9	11	0	2	3	2	3	0	0	3	3	3	3	3	1	2	3	3	1	1	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:52782302G>T	ENST00000216862.3	-	5	1104	c.711C>A	c.(709-711)aaC>aaA	p.N237K	CYP24A1_ENST00000395954.3_Missense_Mutation_p.N95K|CYP24A1_ENST00000395955.3_Missense_Mutation_p.N237K	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	237					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCATGATGAAGTTCACAGCTT	0.388																																																	0													130	116	121					20																	52782302		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.711C>A	20.37:g.52782302G>T	ENSP00000216862:p.Asn237Lys		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.N237K	ENST00000216862.3	37	c.711	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151592	0.38021	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.65732	-0.17;-0.17;-0.17	5.37	4.42	0.53409	.	0.349888	0.32401	N	0.006149	T	0.39172	0.1068	N	0.11673	0.155	0.42398	D	0.99255	P;P;P	0.42161	0.772;0.601;0.459	B;B;B	0.43575	0.424;0.345;0.345	T	0.44360	-0.9333	10	0.05436	T	0.98	-0.6024	9.0009	0.36081	0.2322:0.0:0.7678:0.0	.	237;237;95	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	K	237;237;95	ENSP00000216862:N237K;ENSP00000379285:N237K;ENSP00000379284:N95K	ENSP00000216862:N237K	N	-	3	2	CYP24A1	52215709	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	2.620000	0.46410	1.395000	0.46643	0.557000	0.71058	AAC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000019186		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0	69	0	G			52782302	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	52782302	G	T	52782302	3	4	33	1	0	0	0	0	1	0	0	0	4163	1020	36	3	861	3	CYP24A1	20	52782302	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	3347516	52782302	10243218	165	7965											
LAMA5	3911	genome.wustl.edu	37	chr20	60886990	60886990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccccgtggcattgctGtagaaggcgacgtaatgggg	8	8	15	10	3	1	1	1	0	0	1	1	2	1	1	2	4	1	5	2	4	3	3			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:60886990G>A	ENST00000252999.3	-	70	9687	c.9621C>T	c.(9619-9621)taC>taT	p.Y3207Y	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3207	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATTGCTGTAGAAGGCGA	0.637																																																	0													61	66	65					20																	60886990		2202	4299	6501	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9621C>T	20.37:g.60886990G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.Y3207	ENST00000252999.3	37	c.9621	CCDS33502.1	20																																																																																			LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000130702		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	139	0	G	NM_005560		60886990	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	silent	24.71	128	42	SNP	1.000	A	A	60886990	G	A	60886990	2	1	33	1	0	0	0	0	0	0	0	1	8637	1372	48	3		3	LAMA5	20	60886990	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	8104688	60886990	2138530	166	7966											
TXN2	25828	genome.wustl.edu	37	chr22	36863944	36863944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccattcttcatggccagCacagtgggcaccgctgacac	8	8	9	16	1	2	1	1	1	1	0	3	1	3	1	4	2	1	3	4	2	0	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr22:36863944C>T	ENST00000216185.2	-	4	874	c.408G>A	c.(406-408)gtG>gtA	p.V136V	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Silent_p.V136V|TXN2_ENST00000416967.1_Silent_p.V34V			Q99757	THIOM_HUMAN	thioredoxin 2	136	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						TCATGGCCAGCACAGTGGGCA	0.547																																																	0													110	87	95					22																	36863944		2203	4300	6503	SO:0001819	synonymous_variant	0			U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.408G>A	22.37:g.36863944C>T			Q5JZA0|Q6FH60|Q9UH29	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin	p.V136	ENST00000216185.2	37	c.408	CCDS13928.1	22																																																																																			TXN2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin	ENSG00000100348		0.547	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXN2	HGNC	protein_coding	OTTHUMT00000319016.1		0	68	0	C	NM_012473		36863944	-1			no_errors	ENST00000216185	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	36863944	C	T	36863944	2	4	33	1	0	0	0	0	0	0	0	1	16840	697	25	3		3	TXN2	22	36863944	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09		36863944	14440622	167	7967											
CPT1B	1375	genome.wustl.edu	37	chr22	51010650	51010650	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcccagaggtgcccaatGatgggagcatctgcccacgc	9	6	11	15	1	1	2	0	1	1	1	2	3	2	3	4	2	3	1	4	2	1	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr22:51010650G>T	ENST00000360719.2	-	12	1577	c.1440C>A	c.(1438-1440)atC>atA	p.I480I	CPT1B_ENST00000440709.1_Silent_p.I399I|CPT1B_ENST00000312108.7_Silent_p.I480I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.I277I|CPT1B_ENST00000457250.1_Silent_p.I446I|CPT1B_ENST00000395650.2_Silent_p.I480I|CPT1B_ENST00000405237.3_Silent_p.I480I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	480					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GGTGCCCAATGATGGGAGCAT	0.547																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													71	66	68					22																	51010650		2203	4299	6502	SO:0001819	synonymous_variant	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1440C>A	22.37:g.51010650G>T			B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	pfam_Carn_acyl_trans	p.I480	ENST00000360719.2	37	c.1440	CCDS14098.1	22																																																																																			CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.547	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0	53	0	G	NM_152246		51010650	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.999	T	T	51010650	G	T	51010650	2	4	33	1	0	0	0	0	0	0	0	1	3839	1280	45	3		3	CPT1B	22	51010650	Silent	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	14146706	51010650	293916	168	7968											
MAP3K15	389840	genome.wustl.edu	37	chrX	19390939	19390939	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggctgagctctcgtcTggaacactgtggacaaacac	11	8	10	12	1	2	1	0	1	2	0	4	3	3	3	1	3	3	2	1	3	3	0			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:19390939T>C	ENST00000338883.4	-	22	2939	c.2940A>G	c.(2938-2940)ccA>ccG	p.P980P	MAP3K15_ENST00000359173.3_Silent_p.P415P|MAP3K15_ENST00000469203.2_Silent_p.P812P|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	980							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCTCTCGTCTGGAACACTGT	0.627																																																	0													74	64	68					X																	19390939		2203	4300	6503	SO:0001819	synonymous_variant	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2940A>G	X.37:g.19390939T>C			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P980	ENST00000338883.4	37	c.2940		X																																																																																			MAP3K15	-	NULL	ENSG00000180815		0.627	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		-	0	22	0	T	NM_001001671		19390939	-1	tier1	-	no_errors	ENST00000338883	ensembl	human	known	74_37	silent	80.77	5	21	SNP	0.012	C	C	19390939	T	C	19390939	2	2	33	1	0	0	0	0	0	0	0	1	9287	1567	55	4		4	MAP3K15	23	19390939	Silent	SNP	T	TCGA-IG-A97I-01A-11D-A387-09		19390939	135879621	169	7969											
DRP2	1821	genome.wustl.edu	37	chrX	100497358	100497358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagatggagtaaagttGgtgaatgatctggcccacca	14	9	12	6	0	1	4	0	3	1	1	1	5	1	5	2	3	0	2	2	3	4	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:100497358G>T	ENST00000395209.3	+	8	1400	c.873G>T	c.(871-873)ttG>ttT	p.L291F	DRP2_ENST00000541709.1_Missense_Mutation_p.L213F|DRP2_ENST00000402866.1_Missense_Mutation_p.L291F|DRP2_ENST00000538510.1_Missense_Mutation_p.L291F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	291					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGTAAAGTTGGTGAATGATC	0.473																																																	0													194	182	186					X																	100497358		2203	4300	6503	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.873G>T	X.37:g.100497358G>T	ENSP00000378635:p.Leu291Phe		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.L291F	ENST00000395209.3	37	c.873	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466763	0.43839	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.29	1.47	0.22746	.	0.152355	0.44688	D	0.000423	T	0.40570	0.1122	L	0.44542	1.39	0.38876	D	0.956792	P	0.41393	0.748	P	0.46885	0.53	T	0.25606	-1.0127	10	0.10111	T	0.7	-6.6521	9.2683	0.37654	0.3088:0.0:0.6912:0.0	.	291	Q13474	DRP2_HUMAN	F	291;291;213;291	ENSP00000385038:L291F;ENSP00000378635:L291F;ENSP00000444752:L213F;ENSP00000441051:L291F	ENSP00000362007:L291F	L	+	3	2	DRP2	100384014	1.000000	0.71417	0.946000	0.38457	0.974000	0.67602	0.976000	0.29462	-0.136000	0.11475	0.594000	0.82650	TTG	DRP2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2	ENSG00000102385		0.473	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3		0	34	0	G	NM_001939		100497358	1			no_errors	ENST00000395209	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.998	T	T	100497358	G	T	100497358	3	4	33	1	0	0	0	0	1	0	0	0	4778	1339	47	3	895	3	DRP2	23	100497358	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	81106419	100497358	54773202	170	7970											
TAF7L	54457	genome.wustl.edu	37	chrX	100531514	100531514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctcccgaagcatatcatAttctactagttttaagcaag	13	13	5	10	1	3	0	1	0	2	0	4	1	3	0	1	0	3	3	1	0	7	7			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:100531514A>G	ENST00000372907.3	-	10	963	c.952T>C	c.(952-954)Tat>Cat	p.Y318H	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.Y232H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	318					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGCATATCATATTCTACTAGT	0.383																																					Ovarian(104;431 1530 3210 15406 18594)												0													176	160	165					X																	100531514		2203	4300	6503	SO:0001583	missense	0			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"cancer/testis antigen 40"	300314	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.952T>C	X.37:g.100531514A>G	ENSP00000361998:p.Tyr318His		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.Y318H	ENST00000372907.3	37	c.952	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	a	0.612	-0.824747	0.02755	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.04083	3.71;3.71	4.79	-0.791	0.10929	.	0.796683	0.10678	N	0.646764	T	0.02727	0.0082	L	0.33668	1.02	0.09310	N	1	P	0.40083	0.702	B	0.30495	0.116	T	0.36456	-0.9747	10	0.06099	T	0.92	3.4536	9.0509	0.36376	0.3002:0.0:0.6998:0.0	.	318	Q5H9L4	TAF7L_HUMAN	H	318;232	ENSP00000361998:Y318H;ENSP00000349235:Y232H	ENSP00000349235:Y232H	Y	-	1	0	TAF7L	100418170	0.170000	0.23016	0.004000	0.12327	0.927000	0.56198	1.827000	0.39102	-0.093000	0.12396	0.378000	0.23410	TAT	TAF7L	-	NULL	ENSG00000102387		0.383	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	-	0	14	0	A			100531514	-1	tier1	-	no_errors	ENST00000372907	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.006	G	G	100531514	A	G	100531514	3	3	33	1	0	0	0	0	1	0	0	0	15580	449	16	4	452	4	TAF7L	23	100531514	Missense_Mutation	SNP	A	TCGA-IG-A97I-01A-11D-A387-09	34156	100531514	54739046	171	7971											
RAB33A	9363	genome.wustl.edu	37	chrX	129318277	129318277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttcaggtgtgggacacaGcaggtcaggaacgtttccgc	9	8	15	9	2	2	0	2	0	0	0	3	2	3	2	1	5	2	3	1	5	1	2			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:129318277G>A	ENST00000257017.4	+	2	691	c.277G>A	c.(277-279)Gca>Aca	p.A93T		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	93					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTGGGACACAGCAGGTCAGGA	0.473																																																	0													109	91	97					X																	129318277		2203	4300	6503	SO:0001583	missense	0			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"RAB, member RAS oncogene"	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.277G>A	X.37:g.129318277G>A	ENSP00000257017:p.Ala93Thr		Q5JUZ6|Q92465	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A93T	ENST00000257017.4	37	c.277	CCDS14621.1	X	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849669	0.91277	.	.	ENSG00000134594	ENST00000257017	D	0.88741	-2.42	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98019	1.0370	10	0.87932	D	0	-7.8912	17.2062	0.86918	0.0:0.0:1.0:0.0	.	93	Q14088	RB33A_HUMAN	T	93	ENSP00000257017:A93T	ENSP00000257017:A93T	A	+	1	0	RAB33A	129145958	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.813000	0.99286	2.072000	0.62099	0.429000	0.28392	GCA	RAB33A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000134594		0.473	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	-	0	33	0	G	NM_004794		129318277	1	tier1	-	no_errors	ENST00000257017	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	129318277	G	A	129318277	3	1	33	1	0	0	0	0	1	0	0	0	12967	971	34	3	283	3	RAB33A	23	129318277	Missense_Mutation	SNP	G	TCGA-IG-A97I-01A-11D-A387-09	28786763	129318277	25952283	172	7972											
MAGEA4	4103	genome.wustl.edu	37	chrX	151092505	151092505	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcattttctgctccgCaagtatcgagccaaggagct	8	12	10	11	2	2	0	1	0	1	0	4	2	3	1	2	2	3	5	2	2	3	4			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:151092505C>A	ENST00000360243.2	+	3	636	c.369C>A	c.(367-369)cgC>cgA	p.R123R	MAGEA4_ENST00000370340.3_Silent_p.R123R|MAGEA4_ENST00000393921.1_Silent_p.R123R|MAGEA4_ENST00000276344.2_Silent_p.R123R|MAGEA4_ENST00000393920.1_Silent_p.R123R|MAGEA4_ENST00000370337.4_Silent_p.R123R|MAGEA4_ENST00000370335.1_Silent_p.R123R	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	123	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCTCCGCAAGTATCGAG	0.527																																																	0													80	77	78					X																	151092505		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"melanoma-associated antigen 4", "cancer/testis antigen family 1, member 4"	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.369C>A	X.37:g.151092505C>A			Q14798	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R123	ENST00000360243.2	37	c.369	CCDS14702.1	X																																																																																			MAGEA4	-	pfam_MAGE,pfscan_MAGE	ENSG00000147381		0.527	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	-	0	50	0	C	NM_002362		151092505	1	tier1	-	no_errors	ENST00000276344	ensembl	human	known	74_37	silent	73.21	15	41	SNP	0.003	A	A	151092505	C	A	151092505	2	1	33	1	0	0	0	0	0	0	0	1	9204	697	25	3		3	MAGEA4	23	151092505	Silent	SNP	C	TCGA-IG-A97I-01A-11D-A387-09	21774228	151092505	4178055	173	7973											
NPHP4	261734	genome.wustl.edu	37	chr1	5934999	5934999	+	Frame_Shift_Del	DEL	A	A	-																															ttgtgggggttcttaagcacAaactcaaagaactcggcgac																										TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:5934999delA	ENST00000378156.4	-	21	3244	c.2979delT	c.(2977-2979)tttfs	p.F993fs	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	993					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTAAGCACAAACTCAAAGA	0.632																																																	0													92	110	104					1																	5934999		2149	4244	6393	SO:0001589	frameshift_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2979delT	1.37:g.5934999delA	ENSP00000367398:p.Phe993fs		Q8IWC0	Frame_Shift_Del	DEL	NULL	p.F993fs	ENST00000378156.4	37	c.2979	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.632	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2		0	83	0	A			5934999	-1	tier1		no_errors	ENST00000378156	ensembl	human	known	74_37	frame_shift_del	13.33	13	2	DEL	0.800	-	-	5934999	A	-	5934999	7	5	34	1	0	1	0	1	0	0	0	0	10620	127	5	0	1341	0	NPHP4	1	5934999	Frame_Shift_Del	DEL	A	TCGA-JY-A6F8-01A-11D-A33E-09		5934999	243315622	1	7974											
KIF1B	23095	genome.wustl.edu	37	chr1	10364187	10364187	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacatatcatcataacaGaagatgaggttatagagctt	16	10	9	6	0	2	4	2	1	0	3	2	5	2	5	0	2	2	2	0	2	5	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:10364187G>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377083.1_Nonsense_Mutation_p.E982*|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377093.4_Nonsense_Mutation_p.E982*			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CATCATAACAGAAGATGAGGT	0.448																																																	0													89	94	92					1																	10364187		2203	4300	6503	SO:0001627	intron_variant	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6883G>T	1.37:g.10364187G>T			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E982*	ENST00000377086.1	37	c.2944		1	.	.	.	.	.	.	.	.	.	.	G	39	7.812117	0.98504	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3713	0.94488	0.0:0.0:1.0:0.0	.	.	.	.	X	982	.	ENSP00000366287:E982X	E	+	1	0	KIF1B	10286774	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.395000	0.97266	2.575000	0.86900	0.655000	0.94253	GAA	KIF1B	-	NULL	ENSG00000054523		0.448	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0	36	0	G			10364187	1	tier1	-	no_errors	ENST00000377083	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T	T	10364187	G	T	10364187	1	4	34	0	1	0	0	0	0	0	0	0	8311	943	33	3		3	KIF1B	1	10364187	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4429188	10364187	238886434	2	7975											
PEX14	5195	genome.wustl.edu	37	chr1	10659345	10659345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagtcgggcactgctGccgatgagccttcgtccttg	5	10	12	14	3	0	1	0	1	0	0	4	2	2	1	4	1	4	3	4	1	0	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:10659345G>T	ENST00000356607.4	+	4	300	c.220G>T	c.(220-222)Gcc>Tcc	p.A74S	PEX14_ENST00000538836.1_Missense_Mutation_p.A10S	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	74					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGGCACTGCTGCCGATGAGCC	0.557																																																	0													107	95	99					1																	10659345		2203	4300	6503	SO:0001583	missense	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.220G>T	1.37:g.10659345G>T	ENSP00000349016:p.Ala74Ser		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.A74S	ENST00000356607.4	37	c.220	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287208	0.23478	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.28069	1.63;1.63	6.05	4.18	0.49190	Peroxisome membrane anchor protein Pex14p, N-terminal (1);	0.320831	0.37955	N	0.001873	T	0.12774	0.0310	N	0.11000	0.08	0.28257	N	0.924994	B	0.17268	0.021	B	0.18871	0.023	T	0.24764	-1.0151	10	0.11794	T	0.64	.	4.2514	0.10696	0.1341:0.1268:0.6076:0.1315	.	74	O75381	PEX14_HUMAN	S	74;10	ENSP00000349016:A74S;ENSP00000444877:A10S	ENSP00000349016:A74S	A	+	1	0	PEX14	10581932	0.102000	0.21896	0.394000	0.26270	0.919000	0.55068	0.213000	0.17521	0.870000	0.35726	0.650000	0.86243	GCC	PEX14	-	pfam_Pex14_N	ENSG00000142655		0.557	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1		0	58	0	G			10659345	1			no_errors	ENST00000356607	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.748	T	T	10659345	G	T	10659345	3	4	34	1	0	0	0	0	1	0	0	0	11781	1319	46	3	234	3	PEX14	1	10659345	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	295158	10659345	238591276	3	7976											
MTOR	2475	genome.wustl.edu	37	chr1	11269374	11269374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatggacttgccttttGgaggttgatggtgctgacgt	9	13	13	6	1	0	2	0	2	0	0	0	4	0	4	1	4	3	2	1	4	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:11269374G>T	ENST00000361445.4	-	25	3872	c.3796C>A	c.(3796-3798)Caa>Aaa	p.Q1266K		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1266					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTTGCCTTTTGGAGGTTGATG	0.488																																																	0													201	176	185					1																	11269374		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.3796C>A	1.37:g.11269374G>T	ENSP00000354558:p.Gln1266Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1266K	ENST00000361445.4	37	c.3796	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	1.817	-0.473188	0.04445	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.06142	3.34	5.78	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.061505	0.64402	D	0.000003	T	0.04003	0.0112	N	0.13098	0.295	0.80722	D	1	B	0.16603	0.018	B	0.14578	0.011	T	0.17837	-1.0356	10	0.02654	T	1	-12.8972	14.858	0.70355	0.0689:0.0:0.9311:0.0	.	1266	P42345	MTOR_HUMAN	K	1266	ENSP00000354558:Q1266K	ENSP00000354558:Q1266K	Q	-	1	0	MTOR	11191961	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.434000	0.97515	1.453000	0.47775	-0.258000	0.10820	CAA	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	28	0	G	NM_004958		11269374	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	11269374	G	T	11269374	3	4	34	1	0	0	0	0	1	0	0	0	9992	1357	47	3	3989	3	MTOR	1	11269374	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	610029	11269374	237981247	4	7977											
CASP9	842	genome.wustl.edu	37	chr1	15833452	15833452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggagaagcgacgcCgcaacttctcacagtcgatg	11	5	13	12	5	1	1	1	0	1	1	3	5	1	1	1	1	3	2	1	1	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:15833452C>T	ENST00000333868.5	-	4	666	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	CASP9_ENST00000546424.1_Missense_Mutation_p.R191Q|CASP9_ENST00000375890.4_Missense_Mutation_p.R108Q|CASP9_ENST00000348549.5_Intron	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	191					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GAAGCGACGCCGCAACTTCTC	0.592																																																	0													108	105	106					1																	15833452		2203	4300	6503	SO:0001583	missense	0			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1511	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 56"	602234	"caspase 9, apoptosis-related cysteine protease"			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.572G>A	1.37:g.15833452C>T	ENSP00000330237:p.Arg191Gln		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R191Q	ENST00000333868.5	37	c.572	CCDS158.1	1	.	.	.	.	.	.	.	.	.	.	C	0.841	-0.741974	0.03088	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522;ENST00000440484	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;4.03	5.78	-3.96	0.04106	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.666573	0.16113	N	0.228991	T	0.08582	0.0213	N	0.05592	-0.015	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.33059	-0.9883	10	0.15066	T	0.55	.	12.8263	0.57721	0.0:0.5838:0.0:0.4162	.	191;191	P55211;F8VVS7	CASP9_HUMAN;.	Q	191;191;35;108;108;191	ENSP00000449584:R191Q;ENSP00000330237:R191Q;ENSP00000365051:R108Q;ENSP00000396540:R108Q;ENSP00000411304:R191Q	ENSP00000330237:R191Q	R	-	2	0	CASP9	15706039	0.795000	0.28851	0.001000	0.08648	0.016000	0.09150	0.897000	0.28390	-1.053000	0.03218	-1.149000	0.01842	CGG	CASP9	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000132906		0.592	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP9	HGNC	protein_coding	OTTHUMT00000006438.1	-	0	280	0	C	NM_032996		15833452	-1	tier1	-	no_errors	ENST00000333868	ensembl	human	known	74_37	missense	32.61	62	30	SNP	0.717	T	T	15833452	C	T	15833452	3	4	34	1	0	0	0	0	1	0	0	0	2686	652	23	1	702	1	CASP9	1	15833452	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	4564078	15833452	233417169	5	7978											
UBR4	23352	genome.wustl.edu	37	chr1	19443867	19443867	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaacctgctgggtggtGgtgtaccgcgtgtccacttt	5	13	12	11	2	1	0	1	0	0	0	2	0	2	0	3	3	3	2	3	3	2	3	rs532333826	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:19443867G>T	ENST00000375254.3	-	73	10698	c.10671C>A	c.(10669-10671)acC>acA	p.T3557T	UBR4_ENST00000375217.2_Silent_p.T3550T|UBR4_ENST00000375226.2_Silent_p.T3533T|UBR4_ENST00000375267.2_Silent_p.T3557T|UBR4_ENST00000375218.3_5'UTR	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3557					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCTGGGTGGTGGTGTACCGCG	0.448																																																	0													171	140	151					1																	19443867		2203	4300	6503	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10671C>A	1.37:g.19443867G>T			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.T3557	ENST00000375254.3	37	c.10671	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.448	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	55	0	G	NM_020765		19443867	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T	T	19443867	G	T	19443867	2	4	34	1	0	0	0	0	0	0	0	1	16953	1335	47	3		3	UBR4	1	19443867	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3610415	19443867	229806754	6	7979											
AKR7L	246181	genome.wustl.edu	37	chr1	19597012	19597012	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatctcggccacttcccagGcggcatagttggagaggcca	9	7	13	12	2	1	2	0	0	1	2	3	3	2	2	3	5	0	2	3	5	1	3	rs76741883		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:19597012G>T	ENST00000429712.1	-	0	559				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)	p.P35A(1)		breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CACTTCCCAGGCGGCATAGTT	0.622																																																	1	Substitution - Missense(1)	prostate(1)											65	62	63					1																	19597012		2203	4300	6503			0					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597012G>T			Q5U614	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.P35T	ENST00000429712.1	37	c.103		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.92|10.92	1.485955|1.485955	0.26686|0.26686	.|.	.|.	ENSG00000211454|ENSG00000211454	ENST00000429712|ENST00000420396;ENST00000457194	.|T	.|0.29142	.|1.58	4.08|4.08	3.17|3.17	0.36434|0.36434	NADP-dependent oxidoreductase domain (3);|.	0.245467|.	0.41605|.	D|.	0.000847|.	T|T	0.12263|0.12263	0.0298|0.0298	.|.	.|.	.|.	0.23879|0.23879	N|N	0.99659|0.99659	D|.	0.64830|.	0.994|.	D|.	0.80764|.	0.994|.	T|T	0.17899|0.17899	-1.0354|-1.0354	8|6	0.87932|0.02654	D|T	0|1	.|.	10.819|10.819	0.46593|0.46593	0.095:0.0:0.905:0.0|0.095:0.0:0.905:0.0	.|.	147|.	Q8NHP1|.	ARK74_HUMAN|.	D|T	147|35;103	.|ENSP00000406430:P35T	ENSP00000411913:A147D|ENSP00000406430:P35T	A|P	-|-	2|1	0|0	AKR7L|AKR7L	19469599|19469599	1.000000|1.000000	0.71417|0.71417	0.782000|0.782000	0.31804|0.31804	0.038000|0.038000	0.13279|0.13279	8.881000|8.881000	0.92415|0.92415	1.071000|1.071000	0.40834|0.40834	-0.259000|-0.259000	0.10710|0.10710	GCC|CCT	AKR7L	-	NULL	ENSG00000211454		0.622	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	AKR7L	HGNC	polymorphic_pseudogene	OTTHUMT00000007163.3		0	180	0	G	NM_201252		19597012	-1			no_errors	ENST00000420396	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.977	T	T	19597012	G	T	19597012	1	4	34	0	1	0	0	0	0	0	0	0	477	1203	42	3		3	AKR7L	1	19597012	RNA	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	153145	19597012	229653609	7	7980											
SMPDL3B	27293	genome.wustl.edu	37	chr1	28282299	28282299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgaaggtggtccggaaGcatcatcgcgtcatagcagg	10	8	13	10	3	2	1	2	1	0	0	4	2	3	2	2	4	3	2	2	4	4	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:28282299G>T	ENST00000373894.3	+	6	986	c.795G>T	c.(793-795)aaG>aaT	p.K265N	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.K217N|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.K265N	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	265					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGGTCCGGAAGCATCATCGCG	0.547																																																	0													114	98	103					1																	28282299		2203	4300	6503	SO:0001583	missense	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.795G>T	1.37:g.28282299G>T	ENSP00000363001:p.Lys265Asn		B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.K265N	ENST00000373894.3	37	c.795	CCDS30655.1	1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891671	0.33442	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.90955	-2.76;-2.76;-2.76	5.34	4.41	0.53225	Metallophosphoesterase domain (1);	0.139565	0.64402	D	0.000006	D	0.91513	0.7320	L	0.46885	1.475	0.37608	D	0.920836	D;D;D	0.69078	0.992;0.993;0.997	P;D;P	0.62955	0.853;0.909;0.904	D	0.92079	0.5671	10	0.59425	D	0.04	-18.2867	9.2252	0.37402	0.2603:0.0:0.7397:0.0	.	217;265;265	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	N	265;265;217;217	ENSP00000363001:K265N;ENSP00000362995:K265N;ENSP00000449450:K217N	ENSP00000362995:K265N	K	+	3	2	SMPDL3B	28154886	1.000000	0.71417	0.046000	0.18839	0.017000	0.09413	2.242000	0.43106	2.484000	0.83849	0.462000	0.41574	AAG	SMPDL3B	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000130768		0.547	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	-	0	128	0	G	NM_014474		28282299	1	tier1	-	no_errors	ENST00000373894	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	T	T	28282299	G	T	28282299	3	4	34	1	0	0	0	0	1	0	0	0	14854	962	34	3	817	3	SMPDL3B	1	28282299	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8685287	28282299	220968322	8	7981											
YTHDF2	51441	genome.wustl.edu	37	chr1	29070455	29070456	+	Frame_Shift_Del	DEL	CA	CA	-																															ttccatttttgatgacttctCacactatgagaaacgccaag																										TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:29070455_29070456delCA	ENST00000373812.3	+	4	2035_2036	c.1673_1674delCA	c.(1672-1674)tcafs	p.S558fs	YTHDF2_ENST00000542507.1_Frame_Shift_Del_p.S558fs|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Frame_Shift_Del_p.S508fs	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	558	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACTTCTCACACTATGAGA	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"YTH domain family 2"			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1673_1674delCA	1.37:g.29070457_29070458delCA	ENSP00000362918:p.Ser558fs		A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Frame_Shift_Del	DEL	pfam_YTH_domain,pfscan_YTH_domain	p.H559fs	ENST00000373812.3	37	c.1673_1674	CCDS41296.1	1																																																																																			YTHDF2	-	NULL	ENSG00000198492		0.416	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF2	HGNC	protein_coding	OTTHUMT00000010335.1		0	25	0	CA	NM_016258		29070456	1	tier1		no_errors	ENST00000373812	ensembl	human	known	74_37	frame_shift_del	27.66	34	13	DEL	1.000:1.000	-	-	29070456	CA	-	29070455	7	5	34	1	0	1	0	1	0	0	0	0	17548	838	29	0	1687	0	YTHDF2	1	29070455	Frame_Shift_Del	DEL	CA	TCGA-JY-A6F8-01A-11D-A33E-09	788156	29070455	220180166	9	7982											
TXLNA	200081	genome.wustl.edu	37	chr1	32660753	32660753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaccgagcacagaagcatCaggccagactgggcctcaag	13	3	12	13	1	2	2	2	0	0	2	2	3	2	2	3	2	3	3	3	2	2	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:32660753C>T	ENST00000373609.1	+	10	1879	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	TXLNA_ENST00000373610.3_Missense_Mutation_p.S533L			P40222	TXLNA_HUMAN	taxilin alpha	533					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACAGAAGCATCAGGCCAGACT	0.687																																																	0													29	31	30					1																	32660753		2203	4300	6503	SO:0001583	missense	0			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.1598C>T	1.37:g.32660753C>T	ENSP00000362711:p.Ser533Leu		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.S533L	ENST00000373609.1	37	c.1598	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408145	0.25378	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.30714	1.52;1.52	5.04	3.17	0.36434	.	1.084810	0.07189	N	0.855409	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.24483	T	0.36	2.3477	10.9245	0.47184	0.0:0.787:0.0:0.213	.	533	P40222	TXLNA_HUMAN	L	533	ENSP00000362712:S533L;ENSP00000362711:S533L	ENSP00000362711:S533L	S	+	2	0	TXLNA	32433340	0.000000	0.05858	0.221000	0.23827	0.459000	0.32528	0.197000	0.17197	0.658000	0.30925	0.655000	0.94253	TCA	TXLNA	-	NULL	ENSG00000084652		0.687	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1		0	77	0	C	NM_175852		32660753	1			no_errors	ENST00000373609	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.287	T	T	32660753	C	T	32660753	3	4	34	1	0	0	0	0	1	0	0	0	16836	838	29	3	1636	3	TXLNA	1	32660753	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	3590298	32660753	216589868	10	7983											
MACF1	23499	genome.wustl.edu	37	chr1	39765985	39765985	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcagtccagaccatgtgtTaaagaacaccatttctgtca	13	10	7	11	1	2	2	1	0	1	2	3	2	3	2	3	0	1	2	3	0	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:39765985T>A	ENST00000372915.3	+	21	2687	c.2600T>A	c.(2599-2601)tTa>tAa	p.L867*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.L899*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.L862*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.L867*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.L867*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.L867*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.L867*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	867					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACCATGTGTTAAAGAACACC	0.493																																																	0													134	112	120					1																	39765985		2203	4300	6503	SO:0001587	stop_gained	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2600T>A	1.37:g.39765985T>A	ENSP00000362006:p.Leu867*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L867*	ENST00000372915.3	37	c.2600		1	.	.	.	.	.	.	.	.	.	.	T	42	9.522218	0.99195	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1501	0.81611	0.0:0.0:0.0:1.0	.	.	.	.	X	867;867;867;867;867;825;1016;1029	.	ENSP00000313438:L867X	L	+	2	0	MACF1	39538572	1.000000	0.71417	0.986000	0.45419	0.281000	0.26958	8.040000	0.89188	2.219000	0.72066	0.533000	0.62120	TTA	MACF1	-	NULL	ENSG00000127603		0.493	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0	29	0	T	NM_033044		39765985	1			no_errors	ENST00000317713	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.996	A	A	39765985	T	A	39765985	4	1	34	1	0	0	0	0	0	1	0	0	9180	1764	61	5	2682	5	MACF1	1	39765985	Nonsense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	7105232	39765985	209484636	11	7984											
STIL	6491	genome.wustl.edu	37	chr1	47717561	47717561	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgcagtttaatccagaGatcactgcttctgggctgat	10	12	10	9	0	2	2	1	1	1	1	3	4	3	2	1	1	2	4	1	1	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:47717561G>T	ENST00000360380.3	-	18	3474	c.3111C>A	c.(3109-3111)atC>atA	p.I1037I	STIL_ENST00000243182.6_Silent_p.I1037I|STIL_ENST00000371877.3_Silent_p.I1038I|STIL_ENST00000396221.2_Silent_p.I1020I|STIL_ENST00000337817.5_Silent_p.I1037I	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1037					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTAATCCAGAGATCACTGCTT	0.413																																																	0													65	65	65					1																	47717561		2203	4299	6502	SO:0001819	synonymous_variant	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.3111C>A	1.37:g.47717561G>T			Q5T0C5|Q68CN9	Silent	SNP	NULL	p.I1038	ENST00000360380.3	37	c.3114	CCDS548.1	1																																																																																			STIL	-	NULL	ENSG00000123473		0.413	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2		0	16	0	G	NM_003035		47717561	-1			no_errors	ENST00000371877	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T	T	47717561	G	T	47717561	2	4	34	1	0	0	0	0	0	0	0	1	15329	932	33	3		3	STIL	1	47717561	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7951576	47717561	201533060	12	7985											
LDLRAD1	388633	genome.wustl.edu	37	chr1	54474711	54474711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcagtgctgtacatggtCgcggcagagatgcctcggta	8	8	16	9	3	0	1	0	0	0	1	2	3	0	2	1	4	4	5	1	4	2	2	rs544114152		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:54474711C>T	ENST00000371360.1	-	6	579	c.562G>A	c.(562-564)Gac>Aac	p.D188N	LDLRAD1_ENST00000420619.1_Missense_Mutation_p.D149N|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.D145N|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.D99N	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	188	LDL-receptor class A 3; atypical. {ECO:0000255|PROSITE-ProRule:PRU00124}.					integral component of membrane (GO:0016021)				large_intestine(3)|prostate(1)|skin(3)	7						TGTACATGGTCGCGGCAGAGA	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		19360	0		0	False		,,,				2504	0																0													123	117	119					1																	54474711		2203	4300	6503	SO:0001583	missense	0				CCDS30725.1, CCDS60145.1, CCDS60146.1, CCDS60147.1	1p32.3	2008-02-05	2005-10-07		ENSG00000203985	ENSG00000203985			32069	protein-coding gene	gene with protein product			"low density lipoprotein receptor A domain containing 1"				Standard	NM_001010978		Approved		uc001cwm.2	Q5T700	OTTHUMG00000008433	ENST00000371360.1:c.562G>A	1.37:g.54474711C>T	ENSP00000360411:p.Asp188Asn		A0PJY0|B7ZME3|Q5T6Z9	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.D188N	ENST00000371360.1	37	c.562	CCDS30725.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627414	0.46944	.	.	ENSG00000203985	ENST00000371362;ENST00000371360;ENST00000545928;ENST00000420619	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000012	D	0.89983	0.6873	L	0.48642	1.525	0.40608	D	0.981648	D;D	0.63046	0.992;0.99	P;P	0.49192	0.512;0.602	D	0.89414	0.3705	10	0.46703	T	0.11	-27.4618	9.3942	0.38392	0.0:0.9007:0.0:0.0993	.	145;188	B7ZME3;Q5T700	.;LRAD1_HUMAN	N	99;188;145;149	ENSP00000360413:D99N;ENSP00000360411:D188N;ENSP00000445871:D145N;ENSP00000411017:D149N	ENSP00000360411:D188N	D	-	1	0	LDLRAD1	54247299	0.989000	0.36119	0.833000	0.33012	0.329000	0.28539	3.536000	0.53582	2.201000	0.70794	0.655000	0.94253	GAC	LDLRAD1	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000203985		0.607	LDLRAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD1	HGNC	protein_coding	OTTHUMT00000023243.1	-	0	47	0	C	NM_001010978		54474711	-1	tier1	-	no_errors	ENST00000371360	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.971	T	T	54474711	C	T	54474711	3	4	34	1	0	0	0	0	1	0	0	0	8733	884	31	1	59	1	LDLRAD1	1	54474711	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	6757150	54474711	194775910	13	7986											
C8A	731	genome.wustl.edu	37	chr1	57340647	57340647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccggagcctcttgcagcCaaacaagtttgggggaacca	12	6	11	12	1	1	0	0	0	1	0	1	2	1	2	4	3	5	2	4	3	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:57340647C>G	ENST00000361249.3	+	3	293	c.197C>G	c.(196-198)cCa>cGa	p.P66R		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	66	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTCTTGCAGCCAAACAAGTTT	0.478																																																	0													77	74	75					1																	57340647		2203	4300	6503	SO:0001583	missense	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.197C>G	1.37:g.57340647C>G	ENSP00000354458:p.Pro66Arg		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.P66R	ENST00000361249.3	37	c.197	CCDS606.1	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221925	0.79464	.	.	ENSG00000157131	ENST00000361249	T	0.20332	2.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.93016	3.37	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.63292	-0.6670	10	0.45353	T	0.12	-15.1195	17.5774	0.87955	0.0:1.0:0.0:0.0	.	66	P07357	CO8A_HUMAN	R	66	ENSP00000354458:P66R	ENSP00000354458:P66R	P	+	2	0	C8A	57113235	0.999000	0.42202	0.994000	0.49952	0.991000	0.79684	5.403000	0.66338	2.820000	0.97059	0.650000	0.86243	CCA	C8A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	ENSG00000157131		0.478	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	-	0	23	0	C	NM_000562		57340647	1	tier1	-	no_errors	ENST00000361249	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.999	G	G	57340647	C	G	57340647	3	3	34	1	0	0	0	0	1	0	0	0	2423	594	21	5	207	5	C8A	1	57340647	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2865936	57340647	191909974	14	7987											
C8B	732	genome.wustl.edu	37	chr1	57399057	57399057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggagcacagtggcaggaActaacttccttctggaactc	11	8	11	11	0	1	0	0	0	1	0	3	3	2	3	1	4	4	2	1	4	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:57399057A>C	ENST00000371237.4	-	10	1569	c.1503T>G	c.(1501-1503)agT>agG	p.S501R	C8B_ENST00000543257.1_Missense_Mutation_p.S449R|C8B_ENST00000535057.1_Missense_Mutation_p.S439R	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	501	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGTGGCAGGAACTAACTTCCT	0.517																																																	0													92	79	84					1																	57399057		2203	4300	6503	SO:0001583	missense	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1503T>G	1.37:g.57399057A>C	ENSP00000360281:p.Ser501Arg		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S501R	ENST00000371237.4	37	c.1503	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913643	0.52439	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	T;T;T	0.28255	1.77;1.79;1.62	5.07	3.18	0.36537	Membrane attack complex component/perforin (MACPF) domain (1);	0.197129	0.64402	D	0.000007	T	0.42154	0.1190	M	0.78637	2.42	0.58432	D	0.999995	D;D;P	0.53885	0.963;0.963;0.938	P;P;P	0.53006	0.715;0.715;0.523	T	0.26189	-1.0110	10	0.32370	T	0.25	-10.8358	8.0709	0.30689	0.3847:0.0:0.6153:0.0	.	449;439;501	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	R	501;449;439	ENSP00000360281:S501R;ENSP00000442548:S449R;ENSP00000440113:S439R	ENSP00000360281:S501R	S	-	3	2	C8B	57171645	1.000000	0.71417	0.998000	0.56505	0.606000	0.37113	2.455000	0.44988	0.823000	0.34589	-0.248000	0.11899	AGT	C8B	-	prints_MAC_perforin	ENSG00000021852		0.517	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	-	0	51	0	A			57399057	-1	tier1	-	no_errors	ENST00000371237	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.917	C	C	57399057	A	C	57399057	3	2	34	1	0	0	0	0	1	0	0	0	2424	40	2	4	284	4	C8B	1	57399057	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	58410	57399057	191851564	15	7988											
LRRIQ3	127255	genome.wustl.edu	37	chr1	74540391	74540391	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgatttcatgcctagatcTtttggttttaattcacataa	10	20	5	6	0	3	2	2	1	1	1	3	2	3	2	1	1	1	1	1	1	3	9			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:74540391T>C	ENST00000395089.1	-	5	950	c.951A>G	c.(949-951)aaA>aaG	p.K317K	LRRIQ3_ENST00000354431.4_Silent_p.K317K			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	317										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGCCTAGATCTTTTGGTTTTA	0.224																																																	0													48	41	43					1																	74540391		1764	4015	5779	SO:0001819	synonymous_variant	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"leucine rich repeat containing 44"	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.951A>G	1.37:g.74540391T>C			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	pfscan_IQ_motif_EF-hand-BS	p.K317	ENST00000395089.1	37	c.951	CCDS41350.1	1																																																																																			LRRIQ3	-	NULL	ENSG00000162620		0.224	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1	-	0	21	0	T	NM_145258		74540391	-1	tier1	-	no_errors	ENST00000354431	ensembl	human	known	74_37	silent	48.48	17	16	SNP	0.977	C	C	74540391	T	C	74540391	2	2	34	1	0	0	0	0	0	0	0	1	9065	1606	56	4		4	LRRIQ3	1	74540391	Silent	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	17141334	74540391	174710230	16	7989											
TNNI3K	100144878	genome.wustl.edu	37	chr1	74954930	74954930	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtgtctctgcaacattGaggtaaaagctttagcttct	12	13	9	7	0	2	2	0	1	2	1	3	2	2	2	0	1	4	4	0	1	5	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:74954930G>T	ENST00000294635.4	-	2	89				TNNI3K_ENST00000370891.2_Nonsense_Mutation_p.E828*|TNNI3K_ENST00000326637.3_Nonsense_Mutation_p.E727*|FPGT-TNNI3K_ENST00000557284.2_Nonsense_Mutation_p.E841*			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						CTGCAACATTGAGGTAAAAGC	0.373																																																	0													70	80	76					1																	74954930		2203	4300	6503	SO:0001627	intron_variant	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5871C>A	1.37:g.74954930G>T				Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E841*	ENST00000294635.4	37	c.2521		1	.	.	.	.	.	.	.	.	.	.	G	40	7.945583	0.98574	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	.	.	.	4.85	4.85	0.62838	.	0.052267	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.9279	0.92552	0.0:0.0:1.0:0.0	.	.	.	.	X	828;828;727	.	ENSP00000322251:E727X	E	+	1	0	RP11-653A5.2;AC093158.1	74727518	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.839000	0.92120	2.637000	0.89404	0.644000	0.83932	GAG	FPGT-TNNI3K	-	superfamily_Kinase-like_dom	ENSG00000259030		0.373	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026515.2		0	26	0	G			74954930	1			no_errors	ENST00000557284	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	1.000	T	T	74954930	G	T	74954930	1	4	34	0	1	0	0	0	0	0	0	0	16376	1291	45	3		3	TNNI3K	1	74954930	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	414539	74954930	174295691	17	7990											
SYDE2	84144	genome.wustl.edu	37	chr1	85648339	85648339	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagctataatgcctaaaAgcatcaatgtctatttcatt	16	13	5	7	0	3	0	2	0	1	0	3	1	3	0	1	0	3	2	1	0	8	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:85648339A>G	ENST00000341460.5	-	3	2035	c.1986T>C	c.(1984-1986)gcT>gcC	p.A662A		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	662					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATGCCTAAAAGCATCAATGT	0.338																																																	0													88	81	83					1																	85648339		1863	4092	5955	SO:0001819	synonymous_variant	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1986T>C	1.37:g.85648339A>G			Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A662	ENST00000341460.5	37	c.1986	CCDS44169.1	1																																																																																			SYDE2	-	NULL	ENSG00000097096		0.338	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	-	0	12	0	A			85648339	-1	tier1	-	no_errors	ENST00000341460	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.995	G	G	85648339	A	G	85648339	2	3	34	1	0	0	0	0	0	0	0	1	15483	59	3	4		4	SYDE2	1	85648339	Silent	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	10693409	85648339	163602282	18	7991											
SH3GLB1	51100	genome.wustl.edu	37	chr1	87181419	87181419	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataacagttcacagaagaaAagcttggccaggctgagaag	17	6	11	7	0	1	3	1	1	0	3	1	4	1	3	1	2	2	3	1	2	6	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:87181419A>T	ENST00000370558.4	+	2	409	c.85A>T	c.(85-87)Aag>Tag	p.K29*	SH3GLB1_ENST00000482504.1_Nonsense_Mutation_p.K29*|SH3GLB1_ENST00000535010.1_Intron	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	29	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Membrane-binding amphipathic helix.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CACAGAAGAAAAGCTTGGCCA	0.318																																																	0													67	71	70					1																	87181419		2203	4300	6503	SO:0001587	stop_gained	0			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	10833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 70"	609287	"SH3-domain, GRB2-like, endophilin B1"			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.85A>T	1.37:g.87181419A>T	ENSP00000473267:p.Lys29*		B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.K29*	ENST00000370558.4	37	c.85	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	A	39	7.834358	0.98516	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.21	15.0643	0.71980	1.0:0.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000212369:K29X	K	+	1	0	SH3GLB1	86954007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.959000	0.56917	0.477000	0.44152	AAG	SH3GLB1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000097033		0.318	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	-	0	17	0	A	NM_016009		87181419	1	tier1	-	no_errors	ENST00000482504	ensembl	human	known	74_37	nonsense	18.60	35	8	SNP	1.000	T	T	87181419	A	T	87181419	4	4	34	1	0	0	0	0	0	1	0	0	14298	15	1	5	91	5	SH3GLB1	1	87181419	Nonsense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	1533080	87181419	162069202	19	7992											
VAV3	10451	genome.wustl.edu	37	chr1	108185341	108185341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagagctgggggtggtgttCcagaatagttcctaatgacc	9	10	14	8	0	0	3	0	1	0	2	2	3	2	3	3	3	1	4	3	3	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:108185341C>A	ENST00000370056.4	-	20	2088	c.1814G>T	c.(1813-1815)gGa>gTa	p.G605V	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Missense_Mutation_p.G605V|VAV3_ENST00000415432.2_Missense_Mutation_p.G45V|VAV3_ENST00000544443.1_Missense_Mutation_p.G9V	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	605	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GGGTGGTGTTCCAGAATAGTT	0.448																																																	0													125	120	122					1																	108185341		2203	4300	6503	SO:0001583	missense	0			AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12659	protein-coding gene	gene with protein product		605541	"vav 3 oncogene"				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1814G>T	1.37:g.108185341C>A	ENSP00000359073:p.Gly605Val		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Nonsense_Mutation	SNP	NULL	p.E30*	ENST00000370056.4	37	c.88	CCDS785.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.956136|4.956136	0.92726|0.92726	.|.	.|.	ENSG00000134215|ENSG00000134215	ENST00000529809|ENST00000370056;ENST00000527011;ENST00000544443;ENST00000415432	.|T;T;T;T	.|0.33865	.|1.39;2.91;2.91;1.39	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Src homology-3 domain (3);Variant SH3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.60586	.|0.2280	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.997;1.0;0.994;0.999	.|T	.|0.65393	.|-0.6179	.|10	0.87932|0.87932	D|D	0|0	.|.	19.3739|19.3739	0.94501|0.94501	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|605;9;605;45	.|E9PQ97;B7Z3Z5;Q9UKW4;Q9UKW4-3	.|.;.;VAV3_HUMAN;.	X|V	133|605;605;9;45	.|ENSP00000359073:G605V;ENSP00000432540:G605V;ENSP00000446404:G9V;ENSP00000394897:G45V	ENSP00000434944:E30X|ENSP00000359073:G605V	E|G	-|-	1|2	0|0	VAV3|VAV3	107986864|107986864	0.983000|0.983000	0.35010|0.35010	0.161000|0.161000	0.22692|0.22692	0.900000|0.900000	0.52787|0.52787	4.952000|4.952000	0.63618|0.63618	2.682000|2.682000	0.91365|0.91365	0.555000|0.555000	0.69702|0.69702	GAA|GGA	VAV3	-	NULL	ENSG00000134215		0.448	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV3	HGNC	protein_coding	OTTHUMT00000030242.2	-	0	31	0	C	NM_006113		108185341	-1	tier1	-	no_errors	ENST00000525231	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.973	A	A	108185341	C	A	108185341	3	1	34	1	0	0	0	0	1	0	0	0	17182	855	30	3	761	3	VAV3	1	108185341	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	21003922	108185341	141065280	20	7993											
SLC6A17	388662	genome.wustl.edu	37	chr1	110740984	110740984	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggcccggcagcacatCacccctggagaccagcggta	8	5	13	15	2	2	1	1	0	1	1	2	2	2	1	4	5	2	3	4	5	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:110740984C>A	ENST00000331565.4	+	12	2587	c.2102C>A	c.(2101-2103)tCa>tAa	p.S701*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	701					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGCAGCACATCACCCCTGGAG	0.642																																																	0													91	81	84					1																	110740984		2203	4300	6503	SO:0001587	stop_gained	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.2102C>A	1.37:g.110740984C>A	ENSP00000330199:p.Ser701*		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.S701*	ENST00000331565.4	37	c.2102	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.710060	0.98447	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	.	.	.	4.5	4.5	0.54988	.	0.550760	0.18070	N	0.152662	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1784	0.86848	0.0:1.0:0.0:0.0	.	.	.	.	X	701	.	ENSP00000330199:S701X	S	+	2	0	SLC6A17	110542507	0.995000	0.38212	0.384000	0.26145	0.307000	0.27823	4.749000	0.62155	2.048000	0.60808	0.305000	0.20034	TCA	SLC6A17	-	NULL	ENSG00000197106		0.642	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2		0	59	0	C	XM_371280		110740984	1			no_errors	ENST00000331565	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	0.251	A	A	110740984	C	A	110740984	4	1	34	1	0	0	0	0	0	1	0	0	14725	838	29	3	2144	3	SLC6A17	1	110740984	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2555643	110740984	138509637	21	7994											
PHTF1	10745	genome.wustl.edu	37	chr1	114255944	114255944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattttgctttctctcttGtttgccacattctaatctct	8	20	3	10	0	4	0	0	0	4	0	6	0	4	0	1	0	2	2	1	0	3	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:114255944G>T	ENST00000369604.1	-	8	1223	c.740C>A	c.(739-741)aCa>aAa	p.T247K	PHTF1_ENST00000393357.2_Missense_Mutation_p.T247K|PHTF1_ENST00000369598.1_Missense_Mutation_p.T202K|PHTF1_ENST00000357783.2_Missense_Mutation_p.T247K|PHTF1_ENST00000369600.1_Missense_Mutation_p.T194K|PHTF1_ENST00000369596.2_Missense_Mutation_p.T194K|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	247					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTCTCTTGTTTGCCACAT	0.373																																																	0													159	155	157					1																	114255944		2203	4300	6503	SO:0001583	missense	0			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.740C>A	1.37:g.114255944G>T	ENSP00000358617:p.Thr247Lys		Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.T247K	ENST00000369604.1	37	c.740	CCDS861.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.50|11.50	1.657090|1.657090	0.29425|0.29425	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000412670|ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.|.	.|.	.|.	5.55|5.55	-0.276|-0.276	0.12902|0.12902	.|.	.|0.903436	.|0.09534	.|N	.|0.789116	T|T	0.04634|0.04634	0.0126|0.0126	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.09022	.|0.0;0.0;0.002;0.0	.|B;B;B;B	.|0.08055	.|0.001;0.0;0.003;0.002	T|T	0.36578|0.36578	-0.9742|-0.9742	5|9	.|0.56958	.|D	.|0.05	-0.0037|-0.0037	2.6122|2.6122	0.04894|0.04894	0.1374:0.1163:0.3886:0.3577|0.1374:0.1163:0.3886:0.3577	.|.	.|202;247;2;247	.|F5H7M5;Q9UMS5;Q5TCR1;Q9UMS5-2	.|.;PHTF1_HUMAN;.;.	K|K	3|202;247;194;202;194;247;247	.|.	.|ENSP00000350428:T247K	Q|T	-|-	1|2	0|0	PHTF1|PHTF1	114057467|114057467	0.290000|0.290000	0.24343|0.24343	0.281000|0.281000	0.24762|0.24762	0.992000|0.992000	0.81027|0.81027	0.400000|0.400000	0.20932|0.20932	-0.009000|-0.009000	0.14296|0.14296	0.467000|0.467000	0.42956|0.42956	CAA|ACA	PHTF1	-	NULL	ENSG00000116793		0.373	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1		0	19	0	G	NM_006608		114255944	-1			no_errors	ENST00000369604	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.009	T	T	114255944	G	T	114255944	3	4	34	1	0	0	0	0	1	0	0	0	11901	1377	48	3	1596	3	PHTF1	1	114255944	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3514960	114255944	134994677	22	7995											
TTF2	8458	genome.wustl.edu	37	chr1	117634502	117634502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagactcaccgagatccaGcaccgtccacatactgtccc	11	6	7	17	2	1	2	1	0	0	2	4	3	4	2	5	0	3	2	5	0	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:117634502G>T	ENST00000369466.4	+	17	2779	c.2735G>T	c.(2734-2736)aGc>aTc	p.S912I	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	912					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCGAGATCCAGCACCGTCCAC	0.537																																																	0													103	95	97					1																	117634502		2203	4300	6503	SO:0001583	missense	0			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2735G>T	1.37:g.117634502G>T	ENSP00000358478:p.Ser912Ile		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S912I	ENST00000369466.4	37	c.2735	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764361	0.89932	.	.	ENSG00000116830	ENST00000369466	T	0.75589	-0.95	5.66	5.66	0.87406	SNF2-related (1);	0.145675	0.32444	N	0.006095	D	0.88366	0.6417	H	0.95224	3.64	0.58432	D	0.999998	D	0.76494	0.999	D	0.72982	0.979	D	0.88294	0.2945	10	0.31617	T	0.26	-10.5287	17.2476	0.87032	0.0:0.0:1.0:0.0	.	912	Q9UNY4	TTF2_HUMAN	I	912	ENSP00000358478:S912I	ENSP00000358478:S912I	S	+	2	0	TTF2	117436025	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	6.679000	0.74513	2.690000	0.91761	0.655000	0.94253	AGC	TTF2	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000116830		0.537	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3		0	34	0	G			117634502	1			no_errors	ENST00000369466	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	117634502	G	T	117634502	3	4	34	1	0	0	0	0	1	0	0	0	16768	971	34	3	2801	3	TTF2	1	117634502	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3378558	117634502	131616119	23	7996											
OTUD7B	56957	genome.wustl.edu	37	chr1	149936185	149936185	+	Frame_Shift_Del	DEL	T	T	-																															ctgctgccacctccagcgccTtttcaacgcttccttctcaa																										TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:149936185delT	ENST00000369135.4	-	6	988	c.694delA	c.(694-696)aggfs	p.R233fs	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	233	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.R232G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CTCCAGCGCCTTTTCAACGCT	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											109	120	117					1																	149936185		2115	4244	6359	SO:0001589	frameshift_variant	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.694delA	1.37:g.149936185delT	ENSP00000358131:p.Arg233fs		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Frame_Shift_Del	DEL	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.R232fs	ENST00000369135.4	37	c.694	CCDS41389.1	1																																																																																			OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.522	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3		0	34	0	T	NM_020205		149936185	-1	tier1		no_errors	ENST00000369135	ensembl	human	known	74_37	frame_shift_del	9.52	38	4	DEL	1.000	-	-	149936185	T	-	149936185	7	5	34	1	0	1	0	1	0	0	0	0	11358	1608	56	0	1865	0	OTUD7B	1	149936185	Frame_Shift_Del	DEL	T	TCGA-JY-A6F8-01A-11D-A33E-09	32301683	149936185	99314436	24	7997											
OTUD7B	56957	genome.wustl.edu	37	chr1	149936261	149936261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcatcaagtcccgatcatgGaaaccccacattcctgtggc	11	8	8	14	1	2	0	2	0	0	0	4	2	4	1	4	2	2	1	4	2	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:149936261G>T	ENST00000369135.4	-	6	912	c.618C>A	c.(616-618)ttC>ttA	p.F206L	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	206	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCCGATCATGGAAACCCCACA	0.458																																																	0													93	95	94					1																	149936261		2006	4190	6196	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.618C>A	1.37:g.149936261G>T	ENSP00000358131:p.Phe206Leu		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.F206L	ENST00000369135.4	37	c.618	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523885	0.64747	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.29917	1.55;1.55	4.87	2.97	0.34412	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.78049	2.395	0.54753	D	0.999989	D;P	0.76494	0.999;0.95	D;P	0.79108	0.992;0.895	T	0.32052	-0.9921	9	.	.	.	-23.2464	8.0516	0.30581	0.2558:0.0:0.7442:0.0	.	206;206	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	L	206	ENSP00000358131:F206L;ENSP00000408231:F206L	.	F	-	3	2	OTUD7B	148202885	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.408000	0.21065	0.754000	0.32968	0.655000	0.94253	TTC	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.458	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3		0	24	0	G	NM_020205		149936261	-1			no_errors	ENST00000369135	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	149936261	G	T	149936261	3	4	34	1	0	0	0	0	1	0	0	0	11358	1165	41	3	1941	3	OTUD7B	1	149936261	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	76	149936261	99314360	25	7998											
ADAM15	8751	genome.wustl.edu	37	chr1	155030841	155030841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgagctgaactgcagctGggtgcacctggacctgggca	8	7	15	11	0	0	2	0	2	0	0	0	4	0	3	2	3	5	5	2	3	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:155030841G>T	ENST00000356955.2	+	15	1942	c.1841G>T	c.(1840-1842)tGg>tTg	p.W614L	ADAM15_ENST00000359280.4_Missense_Mutation_p.W614L|ADAM15_ENST00000368410.2_Missense_Mutation_p.W320L|ADAM15_ENST00000360674.4_Missense_Mutation_p.W614L|ADAM15_ENST00000449910.2_Missense_Mutation_p.W614L|ADAM15_ENST00000355956.2_Missense_Mutation_p.W614L|ADAM15_ENST00000368413.1_Missense_Mutation_p.W320L|ADAM15_ENST00000368412.3_Missense_Mutation_p.W614L|ADAM15_ENST00000447332.3_Missense_Mutation_p.W598L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.W624L|ADAM15_ENST00000271836.6_Missense_Mutation_p.W614L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	614	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			AACTGCAGCTGGGTGCACCTG	0.632																																																	0													60	55	57					1																	155030841		2203	4300	6503	SO:0001583	missense	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1841G>T	1.37:g.155030841G>T	ENSP00000349436:p.Trp614Leu		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.W614L	ENST00000356955.2	37	c.1841	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002775	0.74932	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.20881	2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04;2.04	5.37	4.44	0.53790	ADAM, cysteine-rich (2);	0.288723	0.20463	N	0.091842	T	0.23727	0.0574	L	0.57536	1.79	0.42479	D	0.992851	P;P;P;P;P;P;P;P;P;P;P	0.46578	0.763;0.763;0.741;0.855;0.855;0.837;0.837;0.734;0.551;0.88;0.775	B;B;P;P;P;P;P;P;P;P;P	0.54174	0.285;0.285;0.593;0.713;0.477;0.549;0.549;0.549;0.457;0.744;0.677	T	0.01532	-1.1331	10	0.56958	D	0.05	.	12.9853	0.58588	0.0:0.0:0.8375:0.1625	.	624;631;598;614;614;614;614;614;614;614;611	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	L	614;614;614;614;614;614;320;614;320;624	ENSP00000349436:W614L;ENSP00000403843:W614L;ENSP00000352226:W614L;ENSP00000353892:W614L;ENSP00000357397:W614L;ENSP00000348227:W614L;ENSP00000357395:W320L;ENSP00000271836:W614L;ENSP00000357398:W320L;ENSP00000432927:W624L	ENSP00000271836:W614L	W	+	2	0	ADAM15	153297465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.856000	0.55964	1.447000	0.47661	0.650000	0.86243	TGG	ADAM15	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000143537		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	-	0	43	0	G	NM_003815		155030841	1	tier1	-	no_errors	ENST00000356955	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	155030841	G	T	155030841	3	4	34	1	0	0	0	0	1	0	0	0	237	1357	47	3	1899	3	ADAM15	1	155030841	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5094580	155030841	94219780	26	7999											
GPATCH4	54865	genome.wustl.edu	37	chr1	156565512	156565512	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttctttttcttttttttGgggggcttgctctctgactg	1	23	9	8	0	3	1	0	1	3	0	4	1	3	1	0	3	1	2	0	3	0	9			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:156565512G>T	ENST00000438976.2	-	8	651	c.621C>A	c.(619-621)ccC>ccA	p.P207P	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Silent_p.P202P			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	202							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTTTTTTTGGGGGGCTTGC	0.542																																																	0													71	73	72					1																	156565512		2203	4300	6503	SO:0001819	synonymous_variant	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.621C>A	1.37:g.156565512G>T			Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Silent	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.P207	ENST00000438976.2	37	c.621	CCDS44245.1	1																																																																																			GPATCH4	-	NULL	ENSG00000160818		0.542	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1		0	41	0	G	NM_017725		156565512	-1			no_errors	ENST00000438976	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.000	T	T	156565512	G	T	156565512	2	4	34	1	0	0	0	0	0	0	0	1	6619	1335	47	3		3	GPATCH4	1	156565512	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1534671	156565512	92685109	27	8000											
SPTA1	6708	genome.wustl.edu	37	chr1	158604351	158604351	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgagtagcagctaatgtAtctccacaatctcctcggac	11	10	7	13	1	2	1	0	1	2	0	5	2	2	2	3	1	2	4	3	1	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158604351A>G	ENST00000368147.4	-	39	5727	c.5547T>C	c.(5545-5547)gaT>gaC	p.D1849D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1849					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCTAATGTATCTCCACAAT	0.388																																																	0													197	180	185					1																	158604351		1939	4141	6080	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5547T>C	1.37:g.158604351A>G			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D1849	ENST00000368147.4	37	c.5547	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.388	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	20	0	A	NM_003126		158604351	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.983	G	G	158604351	A	G	158604351	2	3	34	1	0	0	0	0	0	0	0	1	15163	446	16	4		4	SPTA1	1	158604351	Silent	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	2038839	158604351	90646270	28	8001											
SPTA1	6708	genome.wustl.edu	37	chr1	158623151	158623151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaactcatcgtgggccAgtcttctgacatagacagct	9	10	11	11	2	3	2	1	1	2	1	5	3	3	3	1	2	2	1	1	2	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158623151A>G	ENST00000368147.4	-	22	3281	c.3101T>C	c.(3100-3102)cTg>cCg	p.L1034P		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1034	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCGTGGGCCAGTCTTCTGAC	0.552																																																	0													99	100	99					1																	158623151		2035	4184	6219	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3101T>C	1.37:g.158623151A>G	ENSP00000357129:p.Leu1034Pro		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L1034P	ENST00000368147.4	37	c.3101	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908147	0.52333	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35048	1.33;1.33	5.15	5.15	0.70609	Src homology-3 domain (3);Spectrin alpha chain, SH3 domain (1);	0.000000	0.26535	N	0.023825	T	0.43612	0.1255	M	0.62016	1.91	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.25082	-1.0142	10	0.25106	T	0.35	.	13.9514	0.64118	1.0:0.0:0.0:0.0	.	1034	P02549	SPTA1_HUMAN	P	1034	ENSP00000357130:L1034P;ENSP00000357129:L1034P	ENSP00000357129:L1034P	L	-	2	0	SPTA1	156889775	1.000000	0.71417	0.942000	0.38095	0.008000	0.06430	8.402000	0.90205	2.174000	0.68829	0.533000	0.62120	CTG	SPTA1	-	superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	ENSG00000163554		0.552	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	40	0	A	NM_003126		158623151	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G	G	158623151	A	G	158623151	3	3	34	1	0	0	0	0	1	0	0	0	15163	188	7	4	4282	4	SPTA1	1	158623151	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	18800	158623151	90627470	29	8002											
SPTA1	6708	genome.wustl.edu	37	chr1	158651365	158651365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacactcctgtacatactgCtggaacttcagggcccgcag	9	8	10	14	1	1	0	1	0	0	0	2	1	2	1	2	2	4	4	2	2	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158651365C>A	ENST00000368147.4	-	4	663	c.483G>T	c.(481-483)caG>caT	p.Q161H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	161					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTACATACTGCTGGAACTTCA	0.537																																																	0													206	209	208					1																	158651365		2031	4194	6225	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.483G>T	1.37:g.158651365C>A	ENSP00000357129:p.Gln161His		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q161H	ENST00000368147.4	37	c.483	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	7.535	0.659509	0.14645	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.55930	0.49;0.49	5.15	0.962	0.19643	.	.	.	.	.	T	0.10680	0.0261	N	0.17800	0.525	0.26423	N	0.97608	B	0.06786	0.001	B	0.12837	0.008	T	0.28808	-1.0032	9	0.15499	T	0.54	.	1.7561	0.02982	0.3399:0.3785:0.1209:0.1606	.	161	P02549	SPTA1_HUMAN	H	161	ENSP00000357130:Q161H;ENSP00000357129:Q161H	ENSP00000357129:Q161H	Q	-	3	2	SPTA1	156917989	0.984000	0.35163	0.715000	0.30552	0.151000	0.21798	0.179000	0.16840	0.003000	0.14656	0.563000	0.77884	CAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	44	0	C	NM_003126		158651365	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.998	A	A	158651365	C	A	158651365	3	1	34	1	0	0	0	0	1	0	0	0	15163	796	28	3	6972	3	SPTA1	1	158651365	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	28214	158651365	90599256	30	8003											
OR6K3	391114	genome.wustl.edu	37	chr1	158687373	158687373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggaccaagtcacagAagatctgatggatttggttg	12	9	13	7	0	2	3	1	1	1	2	2	5	2	5	1	3	0	2	1	3	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158687373A>G	ENST00000368146.1	-	1	580	c.581T>C	c.(580-582)tTc>tCc	p.F194S	OR6K3_ENST00000368145.1_Missense_Mutation_p.F178S			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAAGTCACAGAAGATCTGATG	0.488																																																	0													145	140	142					1																	158687373		2203	4300	6503	SO:0001583	missense	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.581T>C	1.37:g.158687373A>G	ENSP00000357128:p.Phe194Ser		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F194S	ENST00000368146.1	37	c.581		1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646462	0.67358	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00258	8.41;8.41	3.67	3.67	0.42095	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.86864	2.845	0.35320	D	0.784694	D	0.89917	1.0	D	0.97110	1.0	T	0.56366	-0.7991	9	0.87932	D	0	.	7.8868	0.29655	0.815:0.0:0.0:0.185	.	194	Q8NGY3	OR6K3_HUMAN	S	178;194	ENSP00000357127:F178S;ENSP00000357128:F194S	ENSP00000357127:F178S	F	-	2	0	OR6K3	156953997	0.992000	0.36948	1.000000	0.80357	0.939000	0.58152	0.499000	0.22546	1.647000	0.50633	0.338000	0.21704	TTC	OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000203757		0.488	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		-	0	14	0	A			158687373	-1	tier1	-	no_errors	ENST00000368146	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	G	G	158687373	A	G	158687373	3	3	34	1	0	0	0	0	1	0	0	0	11242	246	9	4	416	4	OR6K3	1	158687373	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	36008	158687373	90563248	31	8004											
OR6N1	128372	genome.wustl.edu	37	chr1	158735662	158735662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccactgccagggcctggtCatagtccagtgagtagctct	8	9	12	12	0	2	1	1	1	1	0	3	2	3	1	4	2	2	2	4	2	2	2	rs150263738	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:158735662C>T	ENST00000335094.2	-	1	830	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGGGCCTGGTCATAGTCCAGT	0.532																																																	0								C	ASN/ASP	2,4404	4.2+/-10.8	0,2,2201	184	172	176		811	4.9	1	1	dbSNP_134	176	0,8600		0,0,4300	yes	missense	OR6N1	NM_001005185.1	23	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	271/313	158735662	2,13004	2203	4300	6503	SO:0001583	missense	0			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.811G>A	1.37:g.158735662C>T	ENSP00000335535:p.Asp271Asn		Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D271N	ENST00000335094.2	37	c.811	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.324585	0.41197	4.54E-4	0.0	ENSG00000197403	ENST00000335094	T	0.00216	8.53	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.00073	0.0002	L	0.43757	1.38	0.09310	N	0.999991	P	0.48162	0.906	P	0.45276	0.475	T	0.26258	-1.0108	10	0.52906	T	0.07	-18.7199	11.2214	0.48857	0.0:0.9119:0.0:0.088	.	271	Q8NGY5	OR6N1_HUMAN	N	271	ENSP00000335535:D271N	ENSP00000335535:D271N	D	-	1	0	OR6N1	157002286	0.000000	0.05858	0.999000	0.59377	0.680000	0.39746	0.548000	0.23314	2.538000	0.85594	0.655000	0.94253	GAC	OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197403		0.532	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	-	0	49	0	C	NM_001005185		158735662	-1	tier1	rs150263738	no_errors	ENST00000335094	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.272	T	T	158735662	C	T	158735662	3	4	34	1	0	0	0	0	1	0	0	0	11245	826	29	3	130	3	OR6N1	1	158735662	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	48289	158735662	90514959	32	8005											
MYOC	4653	genome.wustl.edu	37	chr1	171605571	171605571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttctggactcagcgccctGgaaatagaggctccccgagt	9	8	12	12	2	2	1	1	0	1	1	3	4	3	3	3	3	1	2	3	3	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:171605571G>T	ENST00000037502.6	-	3	1080	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	337	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.		Q -> E (in GLC1A). {ECO:0000269|PubMed:10916185}.|Q -> R (in GLC1A). {ECO:0000269|PubMed:9361308}.		bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TCAGCGCCCTGGAAATAGAGG	0.537																																																	0			GRCh37	CD085827|CM004565	MYOC	D|M							70	67	68					1																	171605571		2203	4300	6503	SO:0001583	missense	0			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1009C>A	1.37:g.171605571G>T	ENSP00000037502:p.Gln337Lys		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.Q337K	ENST00000037502.6	37	c.1009	CCDS1297.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.12|19.12	3.766407|3.766407	0.69878|0.69878	.|.	.|.	ENSG00000034971|ENSG00000034971	ENST00000537133|ENST00000037502;ENST00000357746;ENST00000536591	.|D	.|0.90004	.|-2.6	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Olfactomedin-like (3);	.|0.049149	.|0.85682	.|D	.|0.000000	.|D	.|0.93993	.|0.8076	M|M	0.81682|0.81682	2.555|2.555	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D	.|0.71674	.|0.998;0.984	.|D;P	.|0.71870	.|0.975;0.844	.|D	.|0.93767	.|0.7071	.|10	.|0.59425	.|D	.|0.04	.|.	18.5426|18.5426	0.91035|0.91035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279;337	.|B4DV44;Q99972	.|.;MYOC_HUMAN	.|K	-1|337;290;270	.|ENSP00000037502:Q337K	.|ENSP00000037502:Q337K	.|Q	-|-	.|1	.|0	MYOC|MYOC	169872194|169872194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.244000|0.244000	0.25665|0.25665	4.713000|4.713000	0.61895|0.61895	2.719000|2.719000	0.93026|0.93026	0.555000|0.555000	0.69702|0.69702	.|CAG	MYOC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000034971		0.537	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	-	0	83	0	G	NM_000261		171605571	-1	tier1	-	no_errors	ENST00000037502	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	171605571	G	T	171605571	3	4	34	1	0	0	0	0	1	0	0	0	10124	1357	47	3	509	3	MYOC	1	171605571	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	12869909	171605571	77645050	33	8006											
SLC9A11	284525	genome.wustl.edu	37	chr1	173499144	173499144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactatacatcaagctgaggCgctttttgatctgcacatct	10	14	7	10	1	3	2	1	2	2	0	3	2	3	2	0	1	4	3	0	1	4	5	rs535826422	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:173499144C>T	ENST00000367714.3	-	18	2635	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	SLC9C2_ENST00000536496.1_3'UTR|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	738					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CAAGCTGAGGCGCTTTTTGAT	0.323													C|||	2	0.000399361	0	0	5008	,	,		19914	0		0	False		,,,				2504	0.002																0													126	119	121					1																	173499144		2202	4300	6502	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2213G>A	1.37:g.173499144C>T	ENSP00000356687:p.Arg738His		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R738H	ENST00000367714.3	37	c.2213	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	6.802	0.516994	0.13005	.	.	ENSG00000162753	ENST00000367714	T	0.04015	3.73	5.08	1.19	0.21007	.	0.543240	0.16612	N	0.206863	T	0.01320	0.0043	L	0.51422	1.61	0.23645	N	0.997219	B	0.09022	0.002	B	0.04013	0.001	T	0.48068	-0.9067	10	0.17369	T	0.5	0.1277	7.1989	0.25868	0.0:0.6357:0.0:0.3643	.	738	Q5TAH2	S9A11_HUMAN	H	738	ENSP00000356687:R738H	ENSP00000356687:R738H	R	-	2	0	SLC9A11	171765767	0.003000	0.15002	0.078000	0.20375	0.102000	0.19082	-0.283000	0.08433	-0.023000	0.13963	-0.173000	0.13275	CGC	SLC9C2	-	NULL	ENSG00000162753		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0	15	0	C	NM_178527		173499144	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	missense	68.63	16	35	SNP	0.481	T	T	173499144	C	T	173499144	3	4	34	1	0	0	0	0	1	0	0	0	14756	768	27	1	1205	1	SLC9A11	1	173499144	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1893573	173499144	75751477	34	8007											
MR1	3140	genome.wustl.edu	37	chr1	181021634	181021634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtccacatggttcttCaggtcccccagggtaaggac	7	9	13	12	1	2	0	1	0	1	0	4	1	4	1	3	5	0	2	3	5	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:181021634C>A	ENST00000367580.5	+	4	873	c.868C>A	c.(868-870)Cag>Aag	p.Q290K	MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.Q245K	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	290	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	CATGGTTCTTCAGGTCCCCCA	0.577																																					Colon(174;1412 1962 45296 46549 47110)												0													48	52	51					1																	181021634		2203	4300	6503	SO:0001583	missense	0			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"Immunoglobulin superfamily / C1-set domain containing"	4975	protein-coding gene	gene with protein product		600764	"major histocompatibility complex, class I-like sequence"	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.868C>A	1.37:g.181021634C>A	ENSP00000356552:p.Gln290Lys		A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.Q290K	ENST00000367580.5	37	c.868	CCDS1342.1	1	.	.	.	.	.	.	.	.	.	.	C	1.626	-0.520116	0.04171	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.00922	6.01;5.54	4.37	2.44	0.29823	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.399456	0.21610	N	0.071801	T	0.00845	0.0028	N	0.20685	0.6	0.80722	D	1	B;B	0.29481	0.206;0.245	B;B	0.31946	0.085;0.138	T	0.66268	-0.5966	10	0.87932	D	0	.	5.7241	0.18002	0.0:0.6823:0.2082:0.1095	.	245;290	Q95460-2;Q95460	.;HMR1_HUMAN	K	290;245	ENSP00000356552:Q290K;ENSP00000356551:Q245K	ENSP00000356551:Q245K	Q	+	1	0	MR1	179288257	0.000000	0.05858	0.757000	0.31301	0.443000	0.32047	0.220000	0.17660	0.451000	0.26802	0.655000	0.94253	CAG	MR1	-	pfscan_Ig-like_dom	ENSG00000153029		0.577	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MR1	HGNC	protein_coding	OTTHUMT00000085134.2		0	27	0	C	NM_001531		181021634	1			no_errors	ENST00000367580	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.965	A	A	181021634	C	A	181021634	3	1	34	1	0	0	0	0	1	0	0	0	9790	827	29	3	882	3	MR1	1	181021634	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	7522490	181021634	68228987	35	8008											
CACNA1E	777	genome.wustl.edu	37	chr1	181549830	181549830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggccccaatgatgggatcaCccagtttgataacatccttt	10	11	8	12	1	1	2	1	2	0	0	2	3	2	3	4	2	1	1	4	2	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:181549830C>A	ENST00000367573.2	+	6	869	c.869C>A	c.(868-870)aCc>aAc	p.T290N	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T290N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T290N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T241N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T241N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T290N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	290					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGGGATCACCCAGTTTGAT	0.527																																																	0													155	155	155					1																	181549830		2052	4204	6256	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.869C>A	1.37:g.181549830C>A	ENSP00000356545:p.Thr290Asn		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.T290N	ENST00000367573.2	37	c.869	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548427	0.86127	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	4.97	4.97	0.65823	.	0.099447	0.64402	D	0.000002	D	0.99032	0.9669	M	0.87328	2.875	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.99777	1.1026	10	0.87932	D	0	.	17.8239	0.88658	0.0:1.0:0.0:0.0	.	290;290	Q15878-2;Q15878-3	.;.	N	290;290;290;241;241;290;290	ENSP00000432038:T290N;ENSP00000356542:T290N;ENSP00000434814:T290N;ENSP00000350183:T241N;ENSP00000351101:T241N;ENSP00000353222:T290N;ENSP00000356545:T290N	ENSP00000350183:T241N	T	+	2	0	CACNA1E	179816453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.314000	0.78098	0.561000	0.74099	ACC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	52	0	C	NM_000721		181549830	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	181549830	C	A	181549830	3	1	34	1	0	0	0	0	1	0	0	0	2549	507	18	3	891	3	CACNA1E	1	181549830	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	528196	181549830	67700791	36	8009											
FAM5C	339479	genome.wustl.edu	37	chr1	190068031	190068031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgacttcaggcttgcagAgcccctggctgagcatgtag	7	8	14	12	2	1	2	1	1	0	1	1	3	1	2	2	3	3	5	2	3	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:190068031A>T	ENST00000367462.3	-	8	1649	c.1418T>A	c.(1417-1419)cTc>cAc	p.L473H	BRINP3_ENST00000534846.1_Missense_Mutation_p.L371H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	473					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											AGGCTTGCAGAGCCCCTGGCT	0.577																																																	0													108	109	109					1																	190068031		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1418T>A	1.37:g.190068031A>T	ENSP00000356432:p.Leu473His		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.L473H	ENST00000367462.3	37	c.1418	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	A	5.231	0.228058	0.09916	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.42513	0.97;0.97	5.75	4.63	0.57726	Epidermal growth factor-like (1);	0.716696	0.13597	N	0.376186	T	0.32526	0.0832	L	0.40543	1.245	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.34242	0.178;0.087	T	0.18209	-1.0344	10	0.44086	T	0.13	.	9.2718	0.37675	0.9161:0.0:0.0839:0.0	.	371;473	B7Z260;Q76B58	.;FAM5C_HUMAN	H	473;371	ENSP00000356432:L473H;ENSP00000438022:L371H	ENSP00000356432:L473H	L	-	2	0	FAM5C	188334654	0.010000	0.17322	0.752000	0.31206	0.475000	0.33008	1.955000	0.40372	2.190000	0.69967	0.482000	0.46254	CTC	BRINP3	-	NULL	ENSG00000162670		0.577	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0	40	0	A	NM_199051		190068031	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.147	T	T	190068031	A	T	190068031	3	4	34	1	0	0	0	0	1	0	0	0	5616	304	11	5	886	5	FAM5C	1	190068031	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	8518201	190068031	59182590	37	8010											
PTPRC	5788	genome.wustl.edu	37	chr1	198697520	198697520	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgattattgtgacatCaatagccctgcttgttgttc	8	18	7	8	0	2	2	1	2	1	0	3	2	2	2	1	0	2	3	1	0	3	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:198697520C>A	ENST00000367376.2	+	16	1937	c.1766C>A	c.(1765-1767)tCa>tAa	p.S589*	PTPRC_ENST00000352140.3_Nonsense_Mutation_p.S541*|PTPRC_ENST00000594404.1_Nonsense_Mutation_p.S428*|PTPRC_ENST00000348564.6_Nonsense_Mutation_p.S430*|PTPRC_ENST00000442510.2_Nonsense_Mutation_p.S591*	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	589					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATTGTGACATCAATAGCCCTG	0.294																																																	0													124	129	127					1																	198697520		2203	4299	6502	SO:0001587	stop_gained	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1766C>A	1.37:g.198697520C>A	ENSP00000356346:p.Ser589*		A8K7W6|Q16614|Q9H0Y6	Nonsense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S591*	ENST00000367376.2	37	c.1772		1	.	.	.	.	.	.	.	.	.	.	C	37	6.162080	0.97338	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	.	.	.	5.47	4.54	0.55810	.	0.415744	0.18172	N	0.149435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1176	0.42601	0.0:0.8341:0.0:0.1659	.	.	.	.	X	591;525;541;541;475;589;523;428	.	ENSP00000306782:S428X	S	+	2	0	PTPRC	196964143	0.998000	0.40836	0.996000	0.52242	0.920000	0.55202	3.977000	0.56874	1.224000	0.43551	0.603000	0.83216	TCA	PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding			0	20	0	C			198697520	1			no_errors	ENST00000442510	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.998	A	A	198697520	C	A	198697520	4	1	34	1	0	0	0	0	0	1	0	0	12842	838	29	3	1835	3	PTPRC	1	198697520	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	8629489	198697520	50553101	38	8011											
MDM4	4194	genome.wustl.edu	37	chr1	204515937	204515937	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcacaggtgattgaagtgGgaaaaaatgatgacctggag	14	9	13	5	0	1	4	1	4	0	0	1	6	1	6	1	3	0	0	1	3	4	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:204515937G>T	ENST00000367182.3	+	10	997	c.835G>T	c.(835-837)Gga>Tga	p.G279*	MDM4_ENST00000367183.3_Intron|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Nonsense_Mutation_p.G229*|MDM4_ENST00000463049.1_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	279	Asp/Glu-rich (acidic).|Region II.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GATTGAAGTGGGAAAAAATGA	0.368			A		"GBM, bladder, retinoblastoma"																																			Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	0													122	117	119					1																	204515937		2203	4300	6503	SO:0001587	stop_gained	0			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"mouse double minute 4, human homolog of; p53-binding protein", "Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)", "Mdm4 p53 binding protein homolog (mouse)"			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.835G>T	1.37:g.204515937G>T	ENSP00000356150:p.Gly279*		Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Nonsense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.G279*	ENST00000367182.3	37	c.835	CCDS1447.1	1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453331	0.26161	.	.	ENSG00000198625	ENST00000367182;ENST00000454264;ENST00000367179;ENST00000444261	.	.	.	5.7	2.23	0.28157	.	0.862635	0.10953	N	0.615875	.	.	.	.	.	.	0.31301	N	0.688275	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-0.0713	4.8408	0.13489	0.25:0.0:0.588:0.1619	.	.	.	.	X	279;229;164;57	.	ENSP00000356147:G164X	G	+	1	0	MDM4	202782560	0.371000	0.25056	0.114000	0.21550	0.043000	0.13939	0.656000	0.24948	0.824000	0.34613	0.650000	0.86243	GGA	MDM4	-	pirsf_p53_neg-reg_MDM_2/4	ENSG00000198625		0.368	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM4	HGNC	protein_coding	OTTHUMT00000087415.2		0	17	0	G	NM_002393		204515937	1			no_errors	ENST00000367182	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	0.298	T	T	204515937	G	T	204515937	4	4	34	1	0	0	0	0	0	1	0	0	9452	1233	43	3	869	3	MDM4	1	204515937	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5818417	204515937	44734684	39	8012											
PFKFB2	5208	genome.wustl.edu	37	chr1	207244561	207244561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatacttgagatgccctctCcataccatcttcaaacttac	11	12	3	15	0	3	1	1	1	2	1	4	2	3	1	4	0	5	0	4	0	4	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:207244561C>T	ENST00000367080.3	+	13	1375	c.1251C>T	c.(1249-1251)ctC>ctT	p.L417L	PFKFB2_ENST00000367079.2_Silent_p.L417L|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000545806.1_Silent_p.L384L|PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000411990.2_Silent_p.L319L	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	417	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GATGCCCTCTCCATACCATCT	0.448																																																	0													171	158	162					1																	207244561		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.1251C>T	1.37:g.207244561C>T			O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Silent	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.L417	ENST00000367080.3	37	c.1251	CCDS31004.1	1																																																																																			PFKFB2	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000123836		0.448	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	-	0	18	0	C			207244561	1	tier1	-	no_errors	ENST00000367080	ensembl	human	known	74_37	silent	45.24	23	19	SNP	0.986	T	T	207244561	C	T	207244561	2	4	34	1	0	0	0	0	0	0	0	1	11800	842	30	3		3	PFKFB2	1	207244561	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2728624	207244561	42006060	40	8013											
VASH2	79805	genome.wustl.edu	37	chr1	213161896	213161896	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgatctgagcactctGaatgaagtgggctatcaaat	11	11	12	7	0	3	4	1	4	2	0	3	4	3	4	0	2	1	3	0	2	4	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:213161896G>T	ENST00000517399.1	+	7	1038	c.1038G>T	c.(1036-1038)ctG>ctT	p.L346L	VASH2_ENST00000366966.2_Silent_p.L281L|VASH2_ENST00000366967.2_Silent_p.L242L|VASH2_ENST00000366968.4_Silent_p.L281L|VASH2_ENST00000366965.2_Silent_p.L302L			Q86V25	VASH2_HUMAN	vasohibin 2	346					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)	cytoplasm (GO:0005737)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGAGCACTCTGAATGAAGTGG	0.498																																																	0													123	114	117					1																	213161896		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022567	CCDS1511.1, CCDS44315.1, CCDS44316.1, CCDS73026.1	1q23	2008-02-05			ENSG00000143494	ENSG00000143494			25723	protein-coding gene	gene with protein product		610471				16528006	Standard	XR_247041		Approved	FLJ12505	uc001hjw.3	Q86V25	OTTHUMG00000036925	ENST00000517399.1:c.1038G>T	1.37:g.213161896G>T			B4DYZ5|Q2VT46|Q5VTE7|Q5VTE9|Q7Z6E3|Q8IZ24|Q9H9W5	Silent	SNP	NULL	p.L346	ENST00000517399.1	37	c.1038	CCDS1511.1	1																																																																																			VASH2	-	NULL	ENSG00000143494		0.498	VASH2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH2	HGNC	protein_coding	OTTHUMT00000381686.1		0	23	0	G	NM_024749		213161896	1			no_errors	ENST00000517399	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	213161896	G	T	213161896	2	4	34	1	0	0	0	0	0	0	0	1	17175	1277	45	3		3	VASH2	1	213161896	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5917335	213161896	36088725	41	8014											
EPRS	2058	genome.wustl.edu	37	chr1	220195820	220195820	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgaccaaactggctcccTtttttcatttcttcccacat	8	15	4	14	0	2	1	1	1	1	0	4	2	4	1	3	1	1	1	3	1	1	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:220195820T>C	ENST00000366923.3	-	9	1253	c.984A>G	c.(982-984)aaA>aaG	p.K328K		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	328	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	ACTGGCTCCCTTTTTTCATTT	0.348																																																	0													188	175	179					1																	220195820		2203	4300	6503	SO:0001819	synonymous_variant	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.984A>G	1.37:g.220195820T>C			A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.K328	ENST00000366923.3	37	c.984	CCDS31027.1	1																																																																																			EPRS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk	ENSG00000136628		0.348	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2		0	26	0	T	NM_004446		220195820	-1			no_errors	ENST00000366923	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.992	C	C	220195820	T	C	220195820	2	2	34	1	0	0	0	0	0	0	0	1	5207	1606	56	4		4	EPRS	1	220195820	Silent	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	7033924	220195820	29054801	42	8015											
LYST	1130	genome.wustl.edu	37	chr1	235878571	235878571	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcacagtgccgctattGgaatagtgggagccatagtg	11	9	14	7	1	0	1	0	1	0	0	0	3	0	3	2	2	3	2	2	2	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:235878571G>T	ENST00000389794.3	-	42	9888	c.9714C>A	c.(9712-9714)tcC>tcA	p.S3238S	LYST_ENST00000389793.2_Silent_p.S3238S|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3238	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCCGCTATTGGAATAGTGGG	0.463																																																	0													109	108	109					1																	235878571		2203	4300	6503	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.9714C>A	1.37:g.235878571G>T			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S3238	ENST00000389794.3	37	c.9714	CCDS31062.1	1																																																																																			LYST	-	pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom	ENSG00000143669		0.463	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	36	0	G			235878571	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.971	T	T	235878571	G	T	235878571	2	4	34	1	0	0	0	0	0	0	0	1	9164	1335	47	3		3	LYST	1	235878571	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	15682751	235878571	13372050	43	8016											
KIF26B	55083	genome.wustl.edu	37	chr1	245849384	245849384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcagtagccagcacagCgcctccccactcgtgcagag	9	4	12	16	2	0	1	0	0	0	1	2	1	1	1	4	1	5	5	4	1	1	1	rs369332807		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr1:245849384C>T	ENST00000407071.2	+	12	3539	c.3099C>T	c.(3097-3099)agC>agT	p.S1033S	KIF26B_ENST00000366518.4_Silent_p.S652S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1033					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCCAGCACAGCGCCTCCCCAC	0.716																																																	0								C		0,4180		0,0,2090	8	12	11		3099	-6	0	1		11	2,8374		0,2,4186	no	coding-synonymous	KIF26B	NM_018012.3		0,2,6276	TT,TC,CC		0.0239,0.0,0.0159		1033/2109	245849384	2,12554	2090	4188	6278	SO:0001819	synonymous_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3099C>T	1.37:g.245849384C>T			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1033	ENST00000407071.2	37	c.3099	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.716	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	52	0	C	XM_371354		245849384	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	silent	75.00	3	9	SNP	0.000	T	T	245849384	C	T	245849384	2	4	34	1	0	0	0	0	0	0	0	1	8322	767	27	1		1	KIF26B	1	245849384	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	9970813	245849384	3401237	44	8017											
IAH1	285148	genome.wustl.edu	37	chr2	9628289	9628289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctaggacttctcatcttAtttatcagatggactacatt	10	17	5	9	0	4	1	2	0	3	1	5	3	4	3	0	2	1	0	0	2	4	8	rs370353854		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:9628289A>G	ENST00000497473.1	+	6	615	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_Missense_Mutation_p.Y80C|IAH1_ENST00000470914.1_Missense_Mutation_p.Y80C|IAH1_ENST00000545602.1_Missense_Mutation_p.Y80C	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	193					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTCATCTTATTTATCAGAT	0.458																																																	0													109	101	103					2																	9628289		1856	4099	5955	SO:0001583	missense	0			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.578A>G	2.37:g.9628289A>G	ENSP00000417580:p.Tyr193Cys		B4DMV3	Missense_Mutation	SNP	pfam_Lipase_GDSL	p.Y193C	ENST00000497473.1	37	c.578	CCDS42651.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.34|13.34	2.207836|2.207836	0.39003|0.39003	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000481367|ENST00000482918;ENST00000497473;ENST00000470914;ENST00000545602	.|T;T;T;T	.|0.14266	.|2.52;2.52;2.52;2.52	6.17|6.17	0.858|0.858	0.19030|0.19030	.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	.|0.059063	.|0.64402	.|D	.|0.000001	T|T	0.20740|0.20740	0.0499|0.0499	L|L	0.48218|0.48218	1.51|1.51	0.48762|0.48762	D|D	0.999707|0.999707	.|D	.|0.76494	.|0.999	.|D	.|0.68192	.|0.956	T|T	0.05194|0.05194	-1.0900|-1.0900	5|10	.|0.39692	.|T	.|0.17	-13.8012|-13.8012	3.7594|3.7594	0.08598|0.08598	0.5984:0.1168:0.0613:0.2235|0.5984:0.1168:0.0613:0.2235	.|.	.|193	.|Q2TAA2	.|IAH1_HUMAN	V|C	173|80;193;80;80	.|ENSP00000419110:Y80C;ENSP00000417580:Y193C;ENSP00000419224:Y80C;ENSP00000438534:Y80C	.|ENSP00000419224:Y80C	I|Y	+|+	1|2	0|0	IAH1|IAH1	9545740|9545740	0.999000|0.999000	0.42202|0.42202	0.022000|0.022000	0.16811|0.16811	0.219000|0.219000	0.24729|0.24729	4.236000|4.236000	0.58675|0.58675	-0.073000|-0.073000	0.12842|0.12842	0.533000|0.533000	0.62120|0.62120	ATT|TAT	IAH1	-	pfam_Lipase_GDSL	ENSG00000134330		0.458	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IAH1	HGNC	protein_coding	OTTHUMT00000353192.1	-	0	35	0	A	NM_001039613		9628289	1	tier1	-	no_errors	ENST00000497473	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.650	G	G	9628289	A	G	9628289	3	3	34	1	0	0	0	0	1	0	0	0	7498	449	16	4	600	4	IAH1	2	9628289	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09		9628289	233571084	45	8018											
DPYSL5	56896	genome.wustl.edu	37	chr2	27150120	27150120	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccttctacttgttctccaGgtgaaagcagaaatggagac	11	10	10	10	0	2	3	0	1	2	2	3	4	2	3	2	2	2	2	2	2	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:27150120G>T	ENST00000288699.6	+	4	578		c.e4-1		DPYSL5_ENST00000401478.1_Splice_Site	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5						axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.?(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTCTCCAGGTGAAAGCAG	0.577																																																	2	Unknown(2)	lung(2)											87	68	74					2																	27150120		2203	4300	6503	SO:0001630	splice_region_variant	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.421-1G>T	2.37:g.27150120G>T			Q8TCL6|Q9NQC4|Q9NRY9	Splice_Site	SNP	-	e3-1	ENST00000288699.6	37	c.421-1	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117278	0.77323	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6203	0.91318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPYSL5	27003624	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.197000	0.94985	2.779000	0.95612	0.591000	0.81541	.	DPYSL5	-	-	ENSG00000157851		0.577	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2		0	63	0	G	NM_020134	Intron	27150120	1			no_errors	ENST00000288699	ensembl	human	known	74_37	splice_site	7.89	35	3	SNP	1.000	T	T	27150120	G	T	27150120	5	4	34	1	0	0	0	0	0	0	1	0	4764	1014	35	3	430	3	DPYSL5	2	27150120	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	17521831	27150120	216049253	46	8019											
LCLAT1	253558	genome.wustl.edu	37	chr2	30863186	30863186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagaaagaagagaggctgCgttccttctatcaaggggag	14	7	14	6	1	2	3	1	0	1	3	3	6	3	4	1	3	1	2	1	3	5	3	rs374373733		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:30863186C>T	ENST00000309052.4	+	7	1155	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.R278C|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R278C	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	316					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R316C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						AGAGAGGCTGCGTTCCTTCTA	0.493																																																	1	Substitution - Missense(1)	NS(1)						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	116	108	111		946,832	5.8	1	2		111	0,8600		0,0,4300	no	missense,missense	LCLAT1	NM_182551.3,NM_001002257.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	316/415,278/377	30863186	1,13005	2203	4300	6503	SO:0001583	missense	0			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"lysocardiolipin acyltransferase"	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.946C>T	2.37:g.30863186C>T	ENSP00000310551:p.Arg316Cys		A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R316C	ENST00000309052.4	37	c.946	CCDS1772.1	2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.164789	0.38217	2.27E-4	0.0	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000309052;ENST00000540623	T;T;T	0.43294	0.95;0.95;0.95	5.77	5.77	0.91146	.	0.158299	0.64402	D	0.000013	T	0.41558	0.1164	L	0.58101	1.795	0.80722	D	1	B	0.22604	0.072	B	0.12837	0.008	T	0.29427	-1.0012	10	0.66056	D	0.02	-16.5655	14.1788	0.65559	0.0:0.9289:0.0:0.0711	.	316	Q6UWP7	LCLT1_HUMAN	C	278;278;316;278	ENSP00000368823:R278C;ENSP00000310551:R316C;ENSP00000442857:R278C	ENSP00000310551:R316C	R	+	1	0	LCLAT1	30716690	1.000000	0.71417	0.978000	0.43139	0.212000	0.24457	4.686000	0.61700	2.720000	0.93068	0.557000	0.71058	CGT	LCLAT1	-	NULL	ENSG00000172954		0.493	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	LCLAT1	HGNC	protein_coding	OTTHUMT00000216780.1		0	27	0	C	NM_182551		30863186	1			no_errors	ENST00000309052	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.995	T	T	30863186	C	T	30863186	3	4	34	1	0	0	0	0	1	0	0	0	8705	768	27	1	968	1	LCLAT1	2	30863186	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	3713066	30863186	212336187	47	8020											
XDH	7498	genome.wustl.edu	37	chr2	31567580	31567580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcagacaagctcactGtgtccatgtaggcagctgtg	9	9	13	10	0	1	1	1	0	0	1	2	1	2	1	1	2	2	5	1	2	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:31567580G>T	ENST00000379416.3	-	31	3422	c.3374C>A	c.(3373-3375)aCa>aAa	p.T1125K		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CAAGCTCACTGTGTCCATGTA	0.527																																					Colon(66;682 1445 30109 40147)												0													161	125	137					2																	31567580		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3374C>A	2.37:g.31567580G>T	ENSP00000368727:p.Thr1125Lys		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.T1125K	ENST00000379416.3	37	c.3374	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180439	0.38511	.	.	ENSG00000158125	ENST00000379416	T	0.37235	1.21	5.11	0.832	0.18867	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.580051	0.19391	N	0.115418	T	0.13030	0.0316	N	0.00595	-1.35	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.21724	-1.0237	10	0.44086	T	0.13	.	17.3554	0.87334	0.0:0.5855:0.4145:0.0	.	1125	P47989	XDH_HUMAN	K	1125	ENSP00000368727:T1125K	ENSP00000368727:T1125K	T	-	2	0	XDH	31421084	0.001000	0.12720	0.003000	0.11579	0.583000	0.36354	1.290000	0.33319	0.230000	0.21059	0.549000	0.68633	ACA	XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	67	0	G	NM_000379		31567580	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.002	T	T	31567580	G	T	31567580	3	4	34	1	0	0	0	0	1	0	0	0	17475	1377	48	3	651	3	XDH	2	31567580	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	704394	31567580	211631793	48	8021											
BIRC6	57448	genome.wustl.edu	37	chr2	32693541	32693541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgtctggaaacccttttGcaaagtattgatcttcctcc	9	14	6	12	1	2	1	0	1	2	0	5	2	4	2	3	1	2	2	3	1	3	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:32693541G>A	ENST00000421745.2	+	29	5951	c.5817G>A	c.(5815-5817)ttG>ttA	p.L1939L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1939					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAACCCTTTTGCAAAGTATTG	0.348																																					Pancreas(94;175 1509 16028 18060 45422)												0													82	81	81					2																	32693541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5817G>A	2.37:g.32693541G>A			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L1939	ENST00000421745.2	37	c.5817	CCDS33175.2	2																																																																																			BIRC6	-	NULL	ENSG00000115760		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3		0	21	0	G	NM_016252		32693541	1			no_errors	ENST00000421745	ensembl	human	known	74_37	silent	8.00	45	4	SNP	1.000	A	A	32693541	G	A	32693541	2	1	34	1	0	0	0	0	0	0	0	1	1440	1310	46	3		3	BIRC6	2	32693541	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1125961	32693541	210505832	49	8022											
DYSF	8291	genome.wustl.edu	37	chr2	71887693	71887693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtctcctcctccagtgtGatccttacatcaagatctcc	7	15	5	14	0	3	2	1	1	2	1	8	2	6	2	5	0	1	0	5	0	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:71887693G>A	ENST00000258104.3	+	44	5075	c.4798G>A	c.(4798-4800)Gat>Aat	p.D1600N	DYSF_ENST00000409651.1_Missense_Mutation_p.D1632N|DYSF_ENST00000410041.1_Missense_Mutation_p.D1618N|DYSF_ENST00000413539.2_Missense_Mutation_p.D1631N|DYSF_ENST00000409762.1_Missense_Mutation_p.D1617N|DYSF_ENST00000409366.1_Missense_Mutation_p.D1622N|DYSF_ENST00000409744.1_Missense_Mutation_p.D1608N|DYSF_ENST00000394120.2_Missense_Mutation_p.D1601N|DYSF_ENST00000410020.3_Missense_Mutation_p.D1639N|DYSF_ENST00000409582.3_Missense_Mutation_p.D1638N|DYSF_ENST00000429174.2_Missense_Mutation_p.D1621N|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1600	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCAGTGTGATCCTTACAT	0.488																																																	0													163	148	153					2																	71887693		2203	4300	6503	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4798G>A	2.37:g.71887693G>A	ENSP00000258104:p.Asp1600Asn		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.D1631N	ENST00000258104.3	37	c.4891	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026148	0.75390	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.199352	0.51477	D	0.000091	T	0.73442	0.3587	H	0.95114	3.625	0.58432	D	0.999997	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.18013	0.01;0.005;0.019;0.019;0.001;0.012;0.018;0.012;0.014;0.002;0.025;0.0;0.003;0.001;0.006	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36666	0.11;0.019;0.019;0.019;0.007;0.075;0.041;0.04;0.134;0.004;0.23;0.003;0.01;0.007;0.03	T	0.75783	-0.3196	10	0.87932	D	0	-13.2399	17.5763	0.87950	0.0:0.0:1.0:0.0	.	364;1632;1639;1622;1587;1618;1608;1617;1607;1631;1638;1621;1586;1601;1600	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1631;1617;1638;1621;1600;1632;1601;1608;1622;1639;1618	ENSP00000407046:D1631N;ENSP00000387137:D1617N;ENSP00000386547:D1638N;ENSP00000398305:D1621N;ENSP00000258104:D1600N;ENSP00000386683:D1632N;ENSP00000377678:D1601N;ENSP00000386285:D1608N;ENSP00000386512:D1622N;ENSP00000386881:D1639N;ENSP00000386617:D1618N	ENSP00000258104:D1600N	D	+	1	0	DYSF	71741201	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.845000	0.99498	2.754000	0.94517	0.549000	0.68633	GAT	DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000135636		0.488	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3		0	38	0	G	NM_003494		71887693	1			no_errors	ENST00000413539	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	71887693	G	A	71887693	3	1	34	1	0	0	0	0	1	0	0	0	4873	1290	45	3	5231	3	DYSF	2	71887693	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	39194152	71887693	171311680	50	8023											
FBXO41	150726	genome.wustl.edu	37	chr2	73495955	73495955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggagagctcagacgcGcgctcctccagctcctcctt	5	8	12	16	4	1	2	1	0	0	2	5	3	5	2	4	2	2	3	4	2	0	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:73495955G>A	ENST00000521871.1	-	2	1219	c.804C>T	c.(802-804)cgC>cgT	p.R268R	FBXO41_ENST00000520186.1_5'Flank|FBXO41_ENST00000520530.2_Silent_p.R268R|FBXO41_ENST00000295133.5_Silent_p.R329R			Q8TF61	FBX41_HUMAN	F-box protein 41	268										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCTCAGACGCGCGCTCCTCCA	0.687																																																	0													45	53	51					2																	73495955		2169	4242	6411	SO:0001819	synonymous_variant	0			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.804C>T	2.37:g.73495955G>A			G3V0Z7|Q2M1V8	Silent	SNP	superfamily_F-box_dom	p.R329	ENST00000521871.1	37	c.987	CCDS46337.2	2																																																																																			FBXO41	-	NULL	ENSG00000163013		0.687	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1		0	23	0	G			73495955	-1			no_errors	ENST00000295133	ensembl	human	known	74_37	silent	20.00	8	2	SNP	0.022	A	A	73495955	G	A	73495955	2	1	34	1	0	0	0	0	0	0	0	1	5772	1074	38	1		1	FBXO41	2	73495955	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1608262	73495955	169703418	51	8024											
USP39	10713	genome.wustl.edu	37	chr2	85846379	85846379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctgaggaccggaggaGccgccactgcccgtacctgg	7	6	15	13	3	1	1	0	1	1	0	1	5	1	5	5	5	3	1	5	5	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:85846379G>T	ENST00000323701.6	+	2	315	c.305G>T	c.(304-306)aGc>aTc	p.S102I	USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Missense_Mutation_p.S102I|USP39_ENST00000450066.2_Missense_Mutation_p.S24I|USP39_ENST00000409025.1_Missense_Mutation_p.S102I|USP39_ENST00000409766.3_Missense_Mutation_p.S102I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	102	Arg-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GACCGGAGGAGCCGCCACTGC	0.473																																																	0													35	37	36					2																	85846379		2203	4300	6503	SO:0001583	missense	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.305G>T	2.37:g.85846379G>T	ENSP00000312981:p.Ser102Ile		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.S102I	ENST00000323701.6	37	c.305	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875121	0.91664	.	.	ENSG00000168883	ENST00000448971;ENST00000442708;ENST00000450066;ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T;T	0.34667	1.35;2.13;2.41;2.41;2.12	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	L	0.39514	1.22	0.58432	D	0.999999	P;B;D;D;D;P	0.63046	0.485;0.399;0.99;0.992;0.992;0.81	B;B;D;P;P;B	0.63793	0.313;0.146;0.918;0.901;0.83;0.23	T	0.41233	-0.9520	10	0.41790	T	0.15	-2.7111	15.4725	0.75449	0.0:0.0:1.0:0.0	.	24;24;102;102;102;102	B4DHT4;B7Z7L9;G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;.;.;SNUT2_HUMAN	I	24;24;24;102;102;102;102;102	ENSP00000396133:S24I;ENSP00000386572:S102I;ENSP00000386864:S102I;ENSP00000312981:S102I;ENSP00000386803:S102I	ENSP00000312981:S102I	S	+	2	0	USP39	85699890	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.639000	0.91023	2.243000	0.73865	0.305000	0.20034	AGC	USP39	-	NULL	ENSG00000168883		0.473	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	-	0	40	0	G	NM_006590		85846379	1	tier1	-	no_errors	ENST00000409470	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	85846379	G	T	85846379	3	4	34	1	0	0	0	0	1	0	0	0	17119	971	34	3	311	3	USP39	2	85846379	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	12350424	85846379	157352994	52	8025											
POLR1A	25885	genome.wustl.edu	37	chr2	86281401	86281401	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggattatatttatgagcagCgttgacacaacctgcaaaga	14	10	10	7	1	0	3	0	2	0	1	0	4	0	4	1	1	4	3	1	1	5	5	rs545753325		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:86281401C>T	ENST00000263857.6	-	15	2448	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	POLR1A_ENST00000483538.1_5'UTR|POLR1A_ENST00000409681.1_Silent_p.T690T			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	690					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTATGAGCAGCGTTGACACAA	0.433													C|||	1	0.000199681	8e-04	0	5008	,	,		22203	0		0	False		,,,				2504	0																0													92	90	90					2																	86281401		1915	4138	6053	SO:0001819	synonymous_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.2070G>A	2.37:g.86281401C>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.T690	ENST00000263857.6	37	c.2070	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_3	ENSG00000068654		0.433	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	-	0	26	0	C	NM_015425		86281401	-1	tier1	-	no_errors	ENST00000263857	ensembl	human	known	74_37	silent	46.30	29	25	SNP	0.006	T	T	86281401	C	T	86281401	2	4	34	1	0	0	0	0	0	0	0	1	12248	755	27	1		1	POLR1A	2	86281401	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	435022	86281401	156917972	53	8026											
TEKT4	150483	genome.wustl.edu	37	chr2	95542477	95542477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcatggcccatcgtactcGctaccccaccatcctgcagc	7	8	8	18	2	0	0	0	0	0	0	3	0	1	0	5	1	5	4	5	1	2	2	rs372239927		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:95542477G>A	ENST00000295201.4	+	6	1408	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	424					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CATCGTACTCGCTACCCCACC	0.592																																																	0								G	HIS/ARG	0,4406		0,0,2203	74	51	59		1271	0.3	0.7	2		59	1,8599		0,1,4299	no	missense	TEKT4	NM_144705.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	424/436	95542477	1,13005	2203	4300	6503	SO:0001583	missense	0			AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.1271G>A	2.37:g.95542477G>A	ENSP00000295201:p.Arg424His			Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.R424H	ENST00000295201.4	37	c.1271	CCDS2005.1	2	.	.	.	.	.	.	.	.	.	.	.	12.57	1.976656	0.34848	0.0	1.16E-4	ENSG00000163060	ENST00000295201	T	0.02682	4.2	2.43	0.339	0.15979	.	0.261531	0.37623	N	0.002019	T	0.02047	0.0064	N	0.25890	0.77	0.48040	D	0.99957	B	0.27932	0.194	B	0.28916	0.096	T	0.57608	-0.7782	10	0.18710	T	0.47	-7.0137	6.5837	0.22609	0.2695:0.0:0.7305:0.0	.	424	Q8WW24	TEKT4_HUMAN	H	424	ENSP00000295201:R424H	ENSP00000295201:R424H	R	+	2	0	TEKT4	94906204	0.052000	0.20516	0.739000	0.30968	0.764000	0.43329	1.754000	0.38369	-0.309000	0.08779	0.281000	0.19383	CGC	TEKT4	-	pfam_Tektin	ENSG00000163060		0.592	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT4	HGNC	protein_coding	OTTHUMT00000252777.1	-	0	216	0	G	NM_144705		95542477	1	tier1	-	no_errors	ENST00000295201	ensembl	human	known	74_37	missense	22.12	81	23	SNP	0.698	A	A	95542477	G	A	95542477	3	1	34	1	0	0	0	0	1	0	0	0	15802	1087	38	1	1293	1	TEKT4	2	95542477	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	9261076	95542477	147656896	54	8027											
YSK4	80122	genome.wustl.edu	37	chr2	135756498	135756498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttcctgagctccacCgtttctatttcatttggatg	5	20	6	10	1	3	1	1	1	2	0	5	2	5	2	3	1	1	2	3	1	1	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:135756498C>T	ENST00000375845.3	-	5	414	c.384G>A	c.(382-384)acG>acA	p.T128T	MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Silent_p.T128T|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Silent_p.T145T|MAP3K19_ENST00000375844.3_Silent_p.T128T|MAP3K19_ENST00000392917.3_Silent_p.T128T	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	128							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGAGCTCCACCGTTTCTATTT	0.433																																																	0													95	93	94					2																	135756498		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.384G>A	2.37:g.135756498C>T			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T128	ENST00000375845.3	37	c.384	CCDS2176.2	2																																																																																			MAP3K19	-	NULL	ENSG00000176601		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	-	0	23	0	C	NM_025052		135756498	-1	tier1	-	no_errors	ENST00000375845	ensembl	human	known	74_37	silent	35.90	25	14	SNP	0.000	T	T	135756498	C	T	135756498	2	4	34	1	0	0	0	0	0	0	0	1	17544	639	23	1		1	YSK4	2	135756498	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	40214021	135756498	107442875	55	8028											
LCT	3938	genome.wustl.edu	37	chr2	136579654	136579654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacccaatggtgagcacttGgtctttatttatggctgtaa	11	14	9	7	0	1	1	0	1	1	0	1	1	1	1	1	3	2	3	1	3	5	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:136579654G>T	ENST00000264162.2	-	5	932	c.922C>A	c.(922-924)Caa>Aaa	p.Q308K	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	308	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTGAGCACTTGGTCTTTATTT	0.353																																																	0													126	129	128					2																	136579654		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.922C>A	2.37:g.136579654G>T	ENSP00000264162:p.Gln308Lys		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.Q308K	ENST00000264162.2	37	c.922	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768749	0.31320	.	.	ENSG00000115850	ENST00000264162	T	0.26223	1.75	5.44	2.64	0.31445	.	0.785098	0.12352	N	0.476446	T	0.18087	0.0434	L	0.47716	1.5	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34750	-0.9816	10	0.16420	T	0.52	-1.0974	3.5302	0.07774	0.078:0.2874:0.365:0.2696	.	308	P09848	LPH_HUMAN	K	308	ENSP00000264162:Q308K	ENSP00000264162:Q308K	Q	-	1	0	LCT	136296124	0.004000	0.15560	0.001000	0.08648	0.989000	0.77384	0.228000	0.17814	0.395000	0.25257	0.655000	0.94253	CAA	LCT	-	NULL	ENSG00000115850		0.353	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1		0	14	0	G	NM_002299		136579654	-1			no_errors	ENST00000264162	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.002	T	T	136579654	G	T	136579654	3	4	34	1	0	0	0	0	1	0	0	0	8721	1357	47	3	4913	3	LCT	2	136579654	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	823156	136579654	106619719	56	8029											
ZEB2	9839	genome.wustl.edu	37	chr2	145147518	145147518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggcttctcgcccgagtGaagccttgagtgctcgataa	9	10	12	10	3	1	2	0	2	1	0	3	4	1	2	2	1	2	2	2	1	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:145147518G>T	ENST00000558170.2	-	10	4329	c.3145C>A	c.(3145-3147)Cac>Aac	p.H1049N	ZEB2_ENST00000539609.3_Missense_Mutation_p.H1025N|ZEB2_ENST00000303660.4_Missense_Mutation_p.H1049N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H1049N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1049					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCGCCCGAGTGAAGCCTTGAG	0.473																																					Melanoma(33;1235 1264 5755 16332)												0													56	56	56					2																	145147518		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3145C>A	2.37:g.145147518G>T	ENSP00000454157:p.His1049Asn		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.H1049N	ENST00000558170.2	37	c.3145	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933806	0.73442	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.67345	-0.26;-0.26;-0.26	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	M	0.91459	3.21	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.991	D;D;D	0.87578	0.998;0.988;0.988	D	0.88657	0.3186	10	0.87932	D	0	-12.6368	20.0018	0.97417	0.0:0.0:1.0:0.0	.	1025;1048;1049	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	N	1025;1049;1049	ENSP00000443792:H1025N;ENSP00000302501:H1049N;ENSP00000386854:H1049N	ENSP00000302501:H1049N	H	-	1	0	ZEB2	144863988	1.000000	0.71417	0.996000	0.52242	0.430000	0.31655	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	CAC	ZEB2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169554		0.473	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0	31	0	G	NM_014795		145147518	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	145147518	G	T	145147518	3	4	34	1	0	0	0	0	1	0	0	0	17672	1290	45	3	503	3	ZEB2	2	145147518	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8567864	145147518	98051855	57	8030											
XIRP2	129446	genome.wustl.edu	37	chr2	168102105	168102105	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactggatcagatttctgaAgaatcacataatattatgcc	14	12	6	9	0	3	3	2	1	1	2	3	4	3	4	2	1	1	0	2	1	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:168102105A>G	ENST00000409195.1	+	9	4292	c.4203A>G	c.(4201-4203)gaA>gaG	p.E1401E	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E1179E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.E1401E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1226					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATTTCTGAAGAATCACATA	0.338																																																	0													64	60	61					2																	168102105		1838	4092	5930	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4203A>G	2.37:g.168102105A>G			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.E1401	ENST00000409195.1	37	c.4203	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.338	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	11	0	A	NM_152381		168102105	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.976	G	G	168102105	A	G	168102105	2	3	34	1	0	0	0	0	0	0	0	1	17479	69	3	4		4	XIRP2	2	168102105	Silent	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	22954587	168102105	75097268	58	8031											
XIRP2	129446	genome.wustl.edu	37	chr2	168104656	168104656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttcacttgaaaagccagGactttctaatgaaaacaaat	17	11	6	7	0	2	2	1	2	1	0	2	3	2	3	1	1	2	1	1	1	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:168104656G>T	ENST00000409195.1	+	9	6843	c.6754G>T	c.(6754-6756)Gac>Tac	p.D2252Y	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2030Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2252Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2077					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAGCCAGGACTTTCTAAT	0.358																																																	0													70	65	67					2																	168104656		1831	4087	5918	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6754G>T	2.37:g.168104656G>T	ENSP00000386840:p.Asp2252Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D2252Y	ENST00000409195.1	37	c.6754	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354114	0.41700	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.20200	2.09;2.09;2.09	6.06	4.05	0.47172	.	0.594603	0.18306	N	0.145270	T	0.26268	0.0641	M	0.63428	1.95	0.34531	D	0.709178	P;P;P	0.46220	0.8;0.874;0.874	B;P;P	0.48840	0.388;0.592;0.592	T	0.43426	-0.9392	10	0.66056	D	0.02	-13.4543	3.4858	0.07619	0.2651:0.2101:0.5248:0.0	.	2077;2077;2030	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2252;2252;2030	ENSP00000386840:D2252Y;ENSP00000295237:D2252Y;ENSP00000387255:D2030Y	ENSP00000295237:D2252Y	D	+	1	0	XIRP2	167812902	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	2.857000	0.48349	1.585000	0.49928	-0.136000	0.14681	GAC	XIRP2	-	NULL	ENSG00000163092		0.358	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0	18	0	G	NM_152381		168104656	1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.998	T	T	168104656	G	T	168104656	3	4	34	1	0	0	0	0	1	0	0	0	17479	1174	41	3	6784	3	XIRP2	2	168104656	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2551	168104656	75094717	59	8032											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173901421	173901421	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtaaactttgaaaaaatgGtatgtgcagtattataacct	16	14	7	4	0	0	1	0	1	0	0	0	1	0	1	1	1	3	4	1	1	10	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:173901421G>T	ENST00000397081.3	+	29	2996		c.e29+1		RAPGEF4_ENST00000397087.3_Splice_Site|RAPGEF4_ENST00000540783.1_Splice_Site|RAPGEF4_ENST00000264111.6_Splice_Site|RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000535187.1_Splice_Site|RAPGEF4_ENST00000539331.1_Splice_Site|RAPGEF4_ENST00000538974.1_Splice_Site	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TGAAAAAATGGTATGTGCAGT	0.289																																																	0													126	115	118					2																	173901421		1812	4079	5891	SO:0001630	splice_region_variant	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2853+1G>T	2.37:g.173901421G>T			B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	-	e29+1	ENST00000397081.3	37	c.2853+1	CCDS42775.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.452357|4.452357	0.84209|0.84209	.|.	.|.	ENSG00000091428|ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187|ENST00000397085	.|T	.|0.27890	.|1.64	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52901	.|0.1763	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33369	.|-0.9871	.|5	.|.	.|.	.|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|183	.|ENSP00000380274:V183L	.|.	.|V	+|+	.|1	.|0	RAPGEF4|RAPGEF4	173609667|173609667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.675000|9.675000	0.98638|0.98638	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	.|GTA	RAPGEF4	-	-	ENSG00000091428		0.289	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2		0	15	0	G	NM_007023	Intron	173901421	1			no_errors	ENST00000397081	ensembl	human	known	74_37	splice_site	5.97	63	4	SNP	1.000	T	T	173901421	G	T	173901421	5	4	34	1	0	0	0	0	0	0	1	0	13091	1275	44	3	2984	3	RAPGEF4	2	173901421	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5796765	173901421	69297952	60	8033											
TTN	7273	genome.wustl.edu	37	chr2	179439032	179439032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcttagcccatttaaGtgttactgtgtgtcttgtaa	8	17	9	7	0	2	0	1	0	1	0	2	0	2	0	1	1	2	3	1	1	4	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179439032G>T	ENST00000591111.1	-	276	67128	c.66904C>A	c.(66904-66906)Ctt>Att	p.L22302I	TTN_ENST00000589042.1_Missense_Mutation_p.L23943I|TTN_ENST00000342992.6_Missense_Mutation_p.L21375I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L15070I|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L14878I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L15003I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22302	Fibronectin type-III 62. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCATTTAAGTGTTACTGTG	0.433																																																	0													75	75	75					2																	179439032		1846	4082	5928	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.66904C>A	2.37:g.179439032G>T	ENSP00000465570:p.Leu22302Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L21375I	ENST00000591111.1	37	c.64123		2	.	.	.	.	.	.	.	.	.	.	G	9.361	1.068044	0.20067	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.53	5.53	0.82687	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65512	0.2698	L	0.51422	1.61	0.40097	D	0.976326	D;D;D;D	0.63046	0.984;0.984;0.984;0.992	P;P;P;P	0.58077	0.611;0.611;0.611;0.832	T	0.68557	-0.5377	9	0.87932	D	0	.	19.4565	0.94892	0.0:0.0:1.0:0.0	.	14878;15003;15070;22302	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	21375;14878;15070;15003;14876	ENSP00000343764:L21375I;ENSP00000434586:L14878I;ENSP00000340554:L15070I;ENSP00000352154:L15003I	ENSP00000340554:L15070I	L	-	1	0	TTN	179147278	1.000000	0.71417	0.990000	0.47175	0.792000	0.44763	2.865000	0.48412	2.613000	0.88420	0.455000	0.32223	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	17	0	G	NM_133378		179439032	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	179439032	G	T	179439032	3	4	34	1	0	0	0	0	1	0	0	0	16784	1029	36	3	36300	3	TTN	2	179439032	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5537611	179439032	63760341	61	8034											
TTN	7273	genome.wustl.edu	37	chr2	179465721	179465721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcagttcttccacatcaCgcttattgcactgcctccag	8	13	6	14	1	2	0	1	0	1	0	4	0	4	0	3	0	3	4	3	0	1	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179465721C>T	ENST00000591111.1	-	238	51211	c.50987G>A	c.(50986-50988)cGt>cAt	p.R16996H	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18637H|TTN_ENST00000342992.6_Missense_Mutation_p.R16069H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9764H|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9572H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9697H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16996	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCACATCACGCTTATTGCA	0.488																																																	0													148	156	153					2																	179465721		2170	4281	6451	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50987G>A	2.37:g.179465721C>T	ENSP00000465570:p.Arg16996His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R16069H	ENST00000591111.1	37	c.48206		2	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084282	0.55861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67552	0.2905	L	0.41356	1.27	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.68401	-0.5418	9	0.87932	D	0	.	20.0781	0.97751	0.0:1.0:0.0:0.0	.	9572;9697;9764;16996	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	16069;9572;9764;9697;9572	ENSP00000343764:R16069H;ENSP00000434586:R9572H;ENSP00000340554:R9764H;ENSP00000352154:R9697H	ENSP00000340554:R9764H	R	-	2	0	TTN	179173966	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.520000	0.81821	2.817000	0.96982	0.563000	0.77884	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	10	0	C	NM_133378		179465721	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	T	T	179465721	C	T	179465721	3	4	34	1	0	0	0	0	1	0	0	0	16784	536	19	1	52083	1	TTN	2	179465721	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	26689	179465721	63733652	62	8035											
TTN	7273	genome.wustl.edu	37	chr2	179584290	179584290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctactcaccagaaacatGgacggatacagtgcagttac	14	9	8	10	1	2	1	1	0	1	1	2	3	2	3	1	2	5	2	1	2	4	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179584290G>T	ENST00000591111.1	-	80	23202	c.22978C>A	c.(22978-22980)Cat>Aat	p.H7660N	TTN_ENST00000589042.1_Missense_Mutation_p.H7977N|TTN_ENST00000342992.6_Missense_Mutation_p.H6733N|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13207	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.H6733D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGAAACATGGACGGATACA	0.398																																																	1	Substitution - Missense(1)	lung(1)											178	173	175					2																	179584290		1864	4092	5956	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22978C>A	2.37:g.179584290G>T	ENSP00000465570:p.His7660Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H6733N	ENST00000591111.1	37	c.20197		2	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061032	0.19987	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.47488	0.1448	N	0.11724	0.165	0.80722	D	1	B	0.27416	0.178	B	0.28385	0.089	T	0.49542	-0.8929	9	0.87932	D	0	.	14.9536	0.71094	0.0:0.2486:0.7514:0.0	.	7660	Q8WZ42	TITIN_HUMAN	N	6733	ENSP00000343764:H6733N	ENSP00000343764:H6733N	H	-	1	0	TTN	179292535	0.973000	0.33851	1.000000	0.80357	0.960000	0.62799	2.237000	0.43061	2.894000	0.99253	0.655000	0.94253	CAT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	16	0	G	NM_133378		179584290	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.973	T	T	179584290	G	T	179584290	3	4	34	1	0	0	0	0	1	0	0	0	16784	1348	47	3	80724	3	TTN	2	179584290	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	118569	179584290	63615083	63	8036											
TTN	7273	genome.wustl.edu	37	chr2	179611618	179611618	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggctcaatggcttcattgGgtgtaccaaatgaatcggaa	11	12	11	7	1	2	1	2	1	0	0	3	2	2	2	1	4	1	3	1	4	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:179611618G>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.P5170H|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTCATTGGGTGTACCAAA	0.408																																																	0													114	111	112					2																	179611618		2203	4299	6502	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4970C>A	2.37:g.179611618G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P5170H	ENST00000591111.1	37	c.15509		2	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716494	0.48622	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.62105	0.05	5.95	5.95	0.96441	.	.	.	.	.	T	0.69052	0.3068	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60831	-0.7185	9	0.14656	T	0.56	.	18.5659	0.91116	0.0:0.0:1.0:0.0	.	5170	Q8WZ42-6	.	H	5170;451	ENSP00000354117:P5170H	ENSP00000304714:P451H	P	-	2	0	TTN	179319863	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.318000	0.65829	2.825000	0.97269	0.655000	0.94253	CCC	TTN	-	NULL	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	18	0	G	NM_133378		179611618	-1			no_errors	ENST00000360870	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	179611618	G	T	179611618	1	4	34	0	1	0	0	0	0	0	0	0	16784	1232	43	3		3	TTN	2	179611618	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	27328	179611618	63587755	64	8037											
ZNF804A	91752	genome.wustl.edu	37	chr2	185801785	185801785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaaaacatttcctgtaaGatcagagaaacagaaaagta	21	9	6	5	0	1	3	1	0	0	3	2	4	2	3	1	0	2	2	1	0	9	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:185801785G>T	ENST00000302277.6	+	4	2256	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	554							metal ion binding (GO:0046872)	p.K554N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCTGTAAGATCAGAGAAA	0.338																																																	1	Substitution - Missense(1)	lung(1)											34	38	37					2																	185801785		2167	4286	6453	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1662G>T	2.37:g.185801785G>T	ENSP00000303252:p.Lys554Asn		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K554N	ENST00000302277.6	37	c.1662	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	2.998	-0.206730	0.06180	.	.	ENSG00000170396	ENST00000302277	T	0.05717	3.4	4.97	-3.01	0.05463	.	0.557786	0.16987	N	0.191458	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.18871	0.023	T	0.38243	-0.9670	10	0.42905	T	0.14	-3.791	6.8267	0.23887	0.5835:0.0:0.2937:0.1228	.	554	Q7Z570	Z804A_HUMAN	N	554	ENSP00000303252:K554N	ENSP00000303252:K554N	K	+	3	2	ZNF804A	185510030	0.015000	0.18098	0.002000	0.10522	0.006000	0.05464	-0.098000	0.11024	-0.491000	0.06697	-0.145000	0.13849	AAG	ZNF804A	-	NULL	ENSG00000170396		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1		0	12	0	G	NM_194250		185801785	1			no_errors	ENST00000302277	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.000	T	T	185801785	G	T	185801785	3	4	34	1	0	0	0	0	1	0	0	0	18218	933	33	3	1676	3	ZNF804A	2	185801785	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6190167	185801785	57397588	65	8038											
DNAH7	56171	genome.wustl.edu	37	chr2	196673506	196673506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatcgacatatttcatccCaggatttctgaggaagccat	12	12	7	10	1	2	1	1	1	1	0	4	4	3	3	2	2	1	0	2	2	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:196673506C>A	ENST00000312428.6	-	53	10083	c.9983G>T	c.(9982-9984)tGg>tTg	p.W3328L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3328					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTTCATCCCAGGATTTCTG	0.398																																																	0													112	103	106					2																	196673506		1881	4114	5995	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9983G>T	2.37:g.196673506C>A	ENSP00000311273:p.Trp3328Leu		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.W3328L	ENST00000312428.6	37	c.9983	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907429	0.92107	.	.	ENSG00000118997	ENST00000312428	T	0.10005	2.92	5.12	5.12	0.69794	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72956	-0.4134	10	0.87932	D	0	.	18.342	0.90308	0.0:1.0:0.0:0.0	.	3328	Q8WXX0	DYH7_HUMAN	L	3328	ENSP00000311273:W3328L	ENSP00000311273:W3328L	W	-	2	0	DNAH7	196381751	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.176000	0.77643	2.655000	0.90218	0.563000	0.77884	TGG	DNAH7	-	pfam_Dynein_heavy_dom	ENSG00000118997		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0	15	0	C	NM_018897		196673506	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	196673506	C	A	196673506	3	1	34	1	0	0	0	0	1	0	0	0	4620	595	21	3	2143	3	DNAH7	2	196673506	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	10871721	196673506	46525867	66	8039											
DNAH7	56171	genome.wustl.edu	37	chr2	196718134	196718134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatgaggatatccccaGtcaagttgatgtacagctga	14	9	11	7	0	1	3	1	3	0	0	2	5	2	5	2	2	2	3	2	2	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:196718134G>T	ENST00000312428.6	-	46	8814	c.8714C>A	c.(8713-8715)aCt>aAt	p.T2905N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2905					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATATCCCCAGTCAAGTTGAT	0.502																																																	0													121	119	120					2																	196718134		2001	4183	6184	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8714C>A	2.37:g.196718134G>T	ENSP00000311273:p.Thr2905Asn		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.T2905N	ENST00000312428.6	37	c.8714	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399590	0.62177	.	.	ENSG00000118997	ENST00000312428	T	0.74632	-0.86	5.55	5.55	0.83447	Dynein heavy chain, coiled coil stalk (1);	0.055612	0.64402	D	0.000001	D	0.88647	0.6493	M	0.90252	3.1	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	D	0.89679	0.3889	10	0.62326	D	0.03	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	2905	Q8WXX0	DYH7_HUMAN	N	2905	ENSP00000311273:T2905N	ENSP00000311273:T2905N	T	-	2	0	DNAH7	196426379	1.000000	0.71417	0.973000	0.42090	0.086000	0.17979	6.542000	0.73869	2.894000	0.99253	0.655000	0.94253	ACT	DNAH7	-	NULL	ENSG00000118997		0.502	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0	19	0	G	NM_018897		196718134	-1			no_errors	ENST00000312428	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	196718134	G	T	196718134	3	4	34	1	0	0	0	0	1	0	0	0	4620	1029	36	3	3440	3	DNAH7	2	196718134	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	44628	196718134	46481239	67	8040											
CASP8	841	genome.wustl.edu	37	chr2	202141669	202141669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcacagcattagggacagGaatggaacacacttggatgc	13	8	11	9	0	1	0	1	0	0	0	1	4	1	4	0	4	3	1	0	4	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:202141669G>T	ENST00000432109.2	+	8	969	c.780G>T	c.(778-780)agG>agT	p.R260S	CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R245S|CASP8_ENST00000358485.4_Missense_Mutation_p.R319S|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.R277S	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	260					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTAGGGACAGGAATGGAACAC	0.373										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													81	72	75					2																	202141669		2203	4300	6503	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.780G>T	2.37:g.202141669G>T	ENSP00000412523:p.Arg260Ser		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R319S	ENST00000432109.2	37	c.957	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290678	0.59976	.	.	ENSG00000064012	ENST00000392263;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000358485;ENST00000392261;ENST00000323492	T;T;T;T;T;T	0.68479	1.65;1.65;1.65;-0.33;1.65;1.65	5.49	-0.188	0.13264	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.109891	0.64402	D	0.000010	D	0.86347	0.5911	H	0.98786	4.33	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.999;0.999;1.0	D	0.84210	0.0455	10	0.87932	D	0	.	8.5531	0.33465	0.4662:0.0:0.5338:0.0	.	260;245;319;260;245;277	Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;.;CASP8_HUMAN;.;.	S	245;260;277;142;319;245;245	ENSP00000376091:R245S;ENSP00000412523:R260S;ENSP00000264275:R277S;ENSP00000391709:R142S;ENSP00000351273:R319S;ENSP00000325722:R245S	ENSP00000264275:R277S	R	+	3	2	CASP8	201849914	0.966000	0.33281	0.270000	0.24601	0.041000	0.13682	0.238000	0.18004	-0.355000	0.08199	-0.367000	0.07326	AGG	CASP8	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000064012		0.373	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	-	0	32	0	G	NM_001228		202141669	1	tier1	-	no_errors	ENST00000358485	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.543	T	T	202141669	G	T	202141669	3	4	34	1	0	0	0	0	1	0	0	0	2684	1165	41	3	1083	3	CASP8	2	202141669	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5423535	202141669	41057704	68	8041											
NRP2	8828	genome.wustl.edu	37	chr2	206656994	206656994	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgagagagaaggatatGaagatgaaattgatggtgag	17	9	14	1	0	0	7	0	5	0	3	0	10	0	8	0	2	1	0	0	2	5	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:206656994G>T	ENST00000357785.5	+	16	2492	c.2461G>T	c.(2461-2463)Gaa>Taa	p.E821*	NRP2_ENST00000360409.3_Nonsense_Mutation_p.E826*|NRP2_ENST00000412873.2_Intron|NRP2_ENST00000540178.1_Nonsense_Mutation_p.E821*|NRP2_ENST00000540841.1_Intron			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGAAGGATATGAAGATGAAAT	0.333																																																	0													174	178	177					2																	206656994		2203	4300	6503	SO:0001587	stop_gained	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2461G>T	2.37:g.206656994G>T	ENSP00000350432:p.Glu821*		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.E826*	ENST00000357785.5	37	c.2476	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.820136	0.96989	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000357785	.	.	.	5.65	5.65	0.86999	.	0.381500	0.31624	N	0.007328	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.8059	16.751	0.85485	0.0:0.0:1.0:0.0	.	.	.	.	X	826;821;821	.	ENSP00000350432:E821X	E	+	1	0	NRP2	206365239	1.000000	0.71417	0.995000	0.50966	0.265000	0.26407	5.274000	0.65569	2.941000	0.99782	0.655000	0.94253	GAA	NRP2	-	pirsf_Neuropilin	ENSG00000118257		0.333	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1		0	25	0	G			206656994	1			no_errors	ENST00000360409	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	1.000	T	T	206656994	G	T	206656994	4	4	34	1	0	0	0	0	0	1	0	0	10700	1291	45	3	2850	3	NRP2	2	206656994	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4515325	206656994	36542379	69	8042											
MYL1	4632	genome.wustl.edu	37	chr2	211158470	211158470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtagttgatgcagccattgGagtcttcttgacctgccatc	7	13	10	11	1	2	2	0	2	2	0	3	3	2	3	3	1	3	3	3	1	1	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:211158470G>T	ENST00000352451.3	-	5	680	c.533C>A	c.(532-534)tCc>tAc	p.S178Y	MYL1_ENST00000341685.4_Missense_Mutation_p.S134Y|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	178	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.S178Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GCAGCCATTGGAGTCTTCTTG	0.428																																																	1	Substitution - Missense(1)	lung(1)											233	213	220					2																	211158470		2203	4300	6503	SO:0001583	missense	0				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"Myosins / Light chain", "EF-hand domain containing"	7582	protein-coding gene	gene with protein product		160780	"myosin, light polypeptide 1, alkali; skeletal, fast"			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.533C>A	2.37:g.211158470G>T	ENSP00000307280:p.Ser178Tyr		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.S178Y	ENST00000352451.3	37	c.533	CCDS2390.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223405	0.79464	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.80480	-1.38;-1.38	5.91	5.91	0.95273	EF-hand-like domain (1);	0.102064	0.64402	D	0.000001	D	0.91106	0.7200	M	0.87328	2.875	0.51767	D	0.999939	D;D	0.61697	0.99;0.984	D;D	0.64506	0.926;0.917	D	0.91680	0.5357	10	0.87932	D	0	.	20.2983	0.98569	0.0:0.0:1.0:0.0	.	178;134	P05976;P05976-2	MYL1_HUMAN;.	Y	134;178	ENSP00000343321:S134Y;ENSP00000307280:S178Y	ENSP00000343321:S134Y	S	-	2	0	MYL1	210866715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.836000	0.55813	2.802000	0.96397	0.655000	0.94253	TCC	MYL1	-	NULL	ENSG00000168530		0.428	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2		0	11	0	G	NM_079420		211158470	-1			no_errors	ENST00000352451	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	211158470	G	T	211158470	3	4	34	1	0	0	0	0	1	0	0	0	10081	1174	41	3	59	3	MYL1	2	211158470	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4501476	211158470	32040903	70	8043											
FN1	2335	genome.wustl.edu	37	chr2	216237007	216237007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatacccagggtgggtgacGaaaggggtcttttgaactgt	9	11	14	7	1	2	2	1	2	1	0	2	3	2	2	1	4	2	0	1	4	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:216237007G>A	ENST00000359671.1	-	39	6331	c.6066C>T	c.(6064-6066)ttC>ttT	p.F2022F	FN1_ENST00000443816.1_Silent_p.F1932F|FN1_ENST00000354785.4_Silent_p.F2113F|FN1_ENST00000323926.6_Silent_p.F2113F|FN1_ENST00000336916.4_Silent_p.F2022F|FN1_ENST00000432072.2_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Silent_p.F1907F|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Silent_p.F1997F|FN1_ENST00000356005.4_Silent_p.F1932F			P02751	FINC_HUMAN	fibronectin 1	2022	Connecting strand 3 (CS-3) (V region).				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGTGGGTGACGAAAGGGGTCT	0.507																																																	0													89	80	83					2																	216237007		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6066C>T	2.37:g.216237007G>A			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.F2113	ENST00000359671.1	37	c.6339		2																																																																																			FN1	-	NULL	ENSG00000115414		0.507	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	36	0	G	NM_212476		216237007	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	27.27	32	12	SNP	1.000	A	A	216237007	G	A	216237007	2	1	34	1	0	0	0	0	0	0	0	1	5984	1049	37	1		1	FN1	2	216237007	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5078537	216237007	26962366	71	8044											
AGAP1	116987	genome.wustl.edu	37	chr2	236706515	236706515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccgcgcaggtgtctgcCgtgcacatcagccaggtacg	6	9	13	13	4	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	1	2	rs137978600		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr2:236706515C>T	ENST00000304032.8	+	7	1366	c.786C>T	c.(784-786)gcC>gcT	p.A262A	AGAP1_ENST00000409457.1_Silent_p.A262A|AGAP1_ENST00000428334.2_Silent_p.A101A|AGAP1_ENST00000409538.1_Silent_p.A527A|AGAP1_ENST00000336665.5_Silent_p.A262A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	262	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGGTGTCTGCCGTGCACATCA	0.498																																																	0								T	,	0,4406		0,0,2203	175	169	171		786,786	-7.4	0.1	2	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AGAP1	NM_001037131.2,NM_014914.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	262/858,262/805	236706515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.786C>T	2.37:g.236706515C>T			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A262	ENST00000304032.8	37	c.786	CCDS33408.1	2																																																																																			AGAP1	-	NULL	ENSG00000157985		0.498	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	-	0	86	0	C	NM_014914		236706515	1	tier1	rs137978600	no_errors	ENST00000304032	ensembl	human	known	74_37	silent	40.26	44	31	SNP	0.002	T	T	236706515	C	T	236706515	2	4	34	1	0	0	0	0	0	0	0	1	366	639	23	1		1	AGAP1	2	236706515	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	20469508	236706515	6492858	72	8045											
CHL1	10752	genome.wustl.edu	37	chr3	439936	439936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgggaagatatcaggaGtaaatcttactcaaaagact	16	10	9	6	1	3	2	2	0	1	2	4	4	3	4	0	2	1	2	0	2	8	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:439936G>T	ENST00000256509.2	+	25	3763	c.3121G>T	c.(3121-3123)Gta>Tta	p.V1041L	CHL1_ENST00000397491.2_Missense_Mutation_p.V1025L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GATATCAGGAGTAAATCTTAC	0.353																																																	0													67	65	66					3																	439936		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3121G>T	3.37:g.439936G>T	ENSP00000256509:p.Val1041Leu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1041L	ENST00000256509.2	37	c.3121	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104819	0.56291	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.61980	0.06;0.08	5.72	4.84	0.62591	.	0.306933	0.32244	N	0.006371	T	0.41971	0.1182	N	0.11560	0.145	0.37178	D	0.903373	P;B	0.36753	0.568;0.204	B;B	0.34093	0.175;0.046	T	0.52983	-0.8502	10	0.45353	T	0.12	.	13.0275	0.58823	0.0746:0.0:0.9254:0.0	.	1025;1041	O00533;O00533-2	CHL1_HUMAN;.	L	1041;1025	ENSP00000256509:V1041L;ENSP00000380628:V1025L	ENSP00000256509:V1041L	V	+	1	0	CHL1	414936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.833000	0.39161	1.430000	0.47334	0.650000	0.86243	GTA	CHL1	-	NULL	ENSG00000134121		0.353	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2		0	26	0	G	NM_006614		439936	1			no_errors	ENST00000256509	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	439936	G	T	439936	3	4	34	1	0	0	0	0	1	0	0	0	3356	1029	36	3	3211	3	CHL1	3	439936	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		439936	197582494	73	8046											
BHLHE40	8553	genome.wustl.edu	37	chr3	5024704	5024704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagggtggtacctccaGgaagccatcagacccagctc	9	6	12	14	0	1	1	1	0	0	1	3	2	2	2	4	3	4	4	4	3	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:5024704G>T	ENST00000256495.3	+	5	1169	c.566G>T	c.(565-567)aGg>aTg	p.R189M		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	189					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GGTACCTCCAGGAAGCCATCA	0.582																																																	0													66	71	69					3																	5024704		2203	4300	6503	SO:0001583	missense	0			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"Basic helix-loop-helix proteins"	1046	protein-coding gene	gene with protein product	"differentially expressed in chondrocytes 1", " differentiated embryo chondrocyte expressed gene 1"	604256	"basic helix-loop-helix domain containing, class B, 2"	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.566G>T	3.37:g.5024704G>T	ENSP00000256495:p.Arg189Met		Q96TD3	Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.R189M	ENST00000256495.3	37	c.566	CCDS2565.1	3	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770221	0.69992	.	.	ENSG00000134107	ENST00000256495	T	0.64438	-0.1	5.67	4.61	0.57282	.	0.885860	0.10009	N	0.727428	T	0.57858	0.2082	L	0.29908	0.895	0.30839	N	0.735922	P	0.40376	0.715	B	0.43990	0.438	T	0.58098	-0.7696	10	0.46703	T	0.11	.	13.4886	0.61382	0.0866:0.0:0.9134:0.0	.	189	O14503	BHE40_HUMAN	M	189	ENSP00000256495:R189M	ENSP00000256495:R189M	R	+	2	0	BHLHE40	4999704	0.971000	0.33674	0.996000	0.52242	0.926000	0.56050	2.124000	0.42006	2.676000	0.91093	0.655000	0.94253	AGG	BHLHE40	-	NULL	ENSG00000134107		0.582	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE40	HGNC	protein_coding	OTTHUMT00000239244.2	-	0	104	0	G	NM_003670		5024704	1	tier1	-	no_errors	ENST00000256495	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.974	T	T	5024704	G	T	5024704	3	4	34	1	0	0	0	0	1	0	0	0	1425	1000	35	3	584	3	BHLHE40	3	5024704	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4584768	5024704	192997726	74	8047											
BRPF1	7862	genome.wustl.edu	37	chr3	9781555	9781555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccaaggccaagtcccGgatcaaaatgaagaaggcac	16	3	12	10	1	1	2	1	1	0	1	2	4	2	3	3	4	0	1	3	4	7	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:9781555G>T	ENST00000457855.1	+	2	1483	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	BRPF1_ENST00000383829.2_Missense_Mutation_p.R491L|BRPF1_ENST00000302054.3_Missense_Mutation_p.R491L|BRPF1_ENST00000433861.2_Missense_Mutation_p.R491L|BRPF1_ENST00000424362.1_Missense_Mutation_p.R491L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	491					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCCAAGTCCCGGATCAAAATG	0.587																																																	0													41	43	42					3																	9781555		2201	4298	6499	SO:0001583	missense	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1472G>T	3.37:g.9781555G>T	ENSP00000410210:p.Arg491Leu		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R491L	ENST00000457855.1	37	c.1472	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	24.4	4.521910	0.85600	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.18960	2.19;2.18;3.58;2.18;2.18	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	M	0.70595	2.14	0.80722	D	1	P;P;P;P	0.47302	0.893;0.799;0.799;0.666	B;B;B;B	0.43783	0.332;0.431;0.431;0.178	T	0.08269	-1.0730	10	0.66056	D	0.02	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	491;491;491;491	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	L	491	ENSP00000402485:R491L;ENSP00000398863:R491L;ENSP00000373340:R491L;ENSP00000306297:R491L;ENSP00000410210:R491L	ENSP00000306297:R491L	R	+	2	0	BRPF1	9756555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.609000	0.82925	2.873000	0.98535	0.561000	0.74099	CGG	BRPF1	-	NULL	ENSG00000156983		0.587	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1		0	81	0	G	NM_001003694		9781555	1			no_errors	ENST00000383829	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	9781555	G	T	9781555	3	4	34	1	0	0	0	0	1	0	0	0	1524	1116	39	2	1478	2	BRPF1	3	9781555	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4756851	9781555	188240875	75	8048											
DPH3	285381	genome.wustl.edu	37	chr3	16302333	16302333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctccacacacaaactGatcctaagacagagtgagaa	15	9	7	10	0	1	4	0	2	1	3	3	5	2	4	2	0	1	1	2	0	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:16302333G>T	ENST00000488423.1	-	3	282	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	DPH3_ENST00000285082.4_5'UTR|DPH3_ENST00000383775.4_Missense_Mutation_p.Q38K	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	63					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						CACACAAACTGATCCTAAGAC	0.388																																																	0													96	85	89					3																	16302333		2203	4300	6503	SO:0001583	missense	0			BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"DPH3A, KTI11 homolog A (S. cerevisiae)"	608959	"zinc finger, CSL-type containing 2", "DPH3 homolog (KTI11, S. cerevisiae)", "DPH3, KTI11 homolog (S. cerevisiae)"	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.187C>A	3.37:g.16302333G>T	ENSP00000419599:p.Gln63Lys			Missense_Mutation	SNP	pfam_Znf_DHP,pfscan_Znf_DHP	p.Q63K	ENST00000488423.1	37	c.187	CCDS2629.1	3	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453107	0.63290	.	.	ENSG00000154813	ENST00000488423;ENST00000383775	.	.	.	5.73	5.73	0.89815	.	0.220153	0.40064	N	0.001192	T	0.57755	0.2075	.	.	.	0.58432	D	0.99999	B;B	0.18741	0.03;0.01	B;B	0.20184	0.022;0.028	T	0.54241	-0.8323	8	0.54805	T	0.06	-15.5674	16.802	0.85617	0.0:0.0:1.0:0.0	.	38;63	Q96FX2-2;Q96FX2	.;DPH3_HUMAN	K	63;38	.	ENSP00000373285:Q38K	Q	-	1	0	DPH3	16277337	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.956000	0.63645	2.697000	0.92050	0.491000	0.48974	CAG	DPH3	-	NULL	ENSG00000154813		0.388	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH3	HGNC	protein_coding	OTTHUMT00000252108.2		0	10	0	G	NM_206831		16302333	-1			no_errors	ENST00000488423	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	16302333	G	T	16302333	3	4	34	1	0	0	0	0	1	0	0	0	4735	1299	45	3	65	3	DPH3	3	16302333	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6520778	16302333	181720097	76	8049											
KCNH8	131096	genome.wustl.edu	37	chr3	19322812	19322812	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagattactccagaagatAaaaaagaaggtttgtaccgt	17	10	9	5	1	0	5	0	1	0	4	1	5	1	5	2	1	2	2	2	1	8	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:19322812A>G	ENST00000328405.2	+	3	699	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	145	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCAGAAGATAAAAAAGAAGG	0.308																																					NSCLC(124;1625 1765 8018 24930 42026)												0													69	76	73					3																	19322812		2203	4298	6501	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.433A>G	3.37:g.19322812A>G	ENSP00000328813:p.Lys145Glu		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.K145E	ENST00000328405.2	37	c.433	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	A	6.966	0.548125	0.13312	.	.	ENSG00000183960	ENST00000328405	D	0.98567	-5.0	6.17	6.17	0.99709	PAS-associated, C-terminal (1);	0.000000	0.33346	U	0.005002	D	0.95996	0.8696	L	0.44542	1.39	0.80722	D	1	B;B	0.28998	0.004;0.23	B;B	0.20955	0.002;0.032	D	0.94778	0.7951	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	145;145	B7Z398;Q96L42	.;KCNH8_HUMAN	E	145	ENSP00000328813:K145E	.	K	+	1	0	KCNH8	19297816	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.045000	0.76585	2.371000	0.80710	0.533000	0.62120	AAA	KCNH8	-	pfscan_PAS-assoc_C	ENSG00000183960		0.308	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	-	0	15	0	A	NM_144633		19322812	1	tier1	-	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	47.69	33	31	SNP	1.000	G	G	19322812	A	G	19322812	3	3	34	1	0	0	0	0	1	0	0	0	8065	363	13	4	443	4	KCNH8	3	19322812	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	3020479	19322812	178699618	77	8050											
ZNF385D	79750	genome.wustl.edu	37	chr3	21467079	21467079	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctttattaacaggtcCtttgcctttcactcctgccc	5	17	5	14	0	1	0	1	0	0	0	4	0	4	0	5	1	3	1	5	1	2	6	rs140291218		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:21467079C>A	ENST00000281523.2	-	6	1275	c.757G>T	c.(757-759)Gga>Tga	p.G253*		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	253						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G253R(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTAACAGGTCCTTTGCCTTTC	0.423																																																	1	Substitution - Missense(1)	skin(1)											145	133	137					3																	21467079		2203	4300	6503	SO:0001587	stop_gained	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.757G>T	3.37:g.21467079C>A	ENSP00000281523:p.Gly253*			Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.G253*	ENST00000281523.2	37	c.757	CCDS2636.1	3	.	.	.	.	.	.	.	.	.	.	C	43	10.360998	0.99391	.	.	ENSG00000151789	ENST00000281523	.	.	.	5.59	5.59	0.84812	.	0.134082	0.51477	D	0.000097	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-13.3349	19.9267	0.97106	0.0:1.0:0.0:0.0	.	.	.	.	X	253	.	ENSP00000281523:G253X	G	-	1	0	ZNF385D	21442083	0.917000	0.31117	1.000000	0.80357	0.997000	0.91878	1.085000	0.30840	2.778000	0.95560	0.655000	0.94253	GGA	ZNF385D	-	NULL	ENSG00000151789		0.423	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1		0	18	0	C	NM_024697		21467079	-1			no_errors	ENST00000281523	ensembl	human	known	74_37	nonsense	6.67	42	3	SNP	1.000	A	A	21467079	C	A	21467079	4	1	34	1	0	0	0	0	0	1	0	0	17926	690	24	3	442	3	ZNF385D	3	21467079	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2144267	21467079	176555351	78	8051											
NR1D2	9975	genome.wustl.edu	37	chr3	24004096	24004096	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggaggaagaatgcatctGgtatagtgaaatcgattttt	13	13	11	4	1	1	2	0	1	1	1	2	5	1	4	0	3	1	2	0	3	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:24004096G>T	ENST00000312521.4	+	5	1465	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	382	Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GAATGCATCTGGTATAGTGAA	0.378																																																	0													60	61	61					3																	24004096		2203	4300	6503	SO:0001630	splice_region_variant	0			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1146+1G>T	3.37:g.24004096G>T			B2R8Q3|O00402|Q86XD4	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L382	ENST00000312521.4	37	c.1146	CCDS33718.1	3																																																																																			NR1D2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000174738		0.378	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	-	0	12	0	G		Silent	24004096	1	tier1	-	no_errors	ENST00000312521	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	T	T	24004096	G	T	24004096	5	4	34	1	0	0	0	0	0	0	1	0	10655	1362	47	3	1164	3	NR1D2	3	24004096	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2537017	24004096	174018334	79	8052											
VIPR1	7433	genome.wustl.edu	37	chr3	42567437	42567437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacctggagcctggcccGtaccccattgcctgtggttt	5	10	11	15	2	0	0	0	0	0	0	0	1	0	1	6	3	3	3	6	3	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:42567437G>A	ENST00000325123.4	+	4	464	c.351G>A	c.(349-351)ccG>ccA	p.P117P	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000438259.2_5'UTR|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000473575.1_3'UTR|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1_ENST00000543411.1_Silent_p.P70P|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000433647.1_Silent_p.P76P	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	117					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGCCTGGCCCGTACCCCATTG	0.662																																																	0													81	62	69					3																	42567437		2203	4300	6503	SO:0001819	synonymous_variant	0			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.351G>A	3.37:g.42567437G>A			A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt	p.P117	ENST00000325123.4	37	c.351	CCDS2698.1	3																																																																																			VIPR1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_VIP_rcpt	ENSG00000114812		0.662	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	HGNC	protein_coding	OTTHUMT00000254728.4	-	0	140	0	G	NM_004624		42567437	1	tier1	-	no_errors	ENST00000325123	ensembl	human	known	74_37	silent	41.33	44	31	SNP	1.000	A	A	42567437	G	A	42567437	2	1	34	1	0	0	0	0	0	0	0	1	17218	1132	40	1		1	VIPR1	3	42567437	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	18563341	42567437	155454993	80	8053											
CCDC13	152206	genome.wustl.edu	37	chr3	42787490	42787490	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggagctgctgaacgttGatgtcttccccaacctctct	8	12	9	12	1	2	2	0	2	2	0	4	4	3	3	3	1	4	3	3	1	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:42787490G>T	ENST00000310232.6	-	7	833	c.750C>A	c.(748-750)atC>atA	p.I250I	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	250										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCTGAACGTTGATGTCTTCCC	0.522																																																	0													94	90	92					3																	42787490		2203	4300	6503	SO:0001819	synonymous_variant	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.750C>A	3.37:g.42787490G>T				Silent	SNP	superfamily_Prefoldin	p.I250	ENST00000310232.6	37	c.750	CCDS2705.1	3																																																																																			CCDC13	-	NULL	ENSG00000244607		0.522	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1		0	27	0	G	NM_144719		42787490	-1			no_errors	ENST00000310232	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.958	T	T	42787490	G	T	42787490	2	4	34	1	0	0	0	0	0	0	0	1	2772	1280	45	3		3	CCDC13	3	42787490	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	220053	42787490	155234940	81	8054											
STAB1	23166	genome.wustl.edu	37	chr3	52536690	52536690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcaaccatgggccacgtgGggatggaagctgcctgtgct	7	8	16	10	1	0	0	0	0	0	0	0	2	0	2	3	4	5	3	3	4	2	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:52536690G>T	ENST00000321725.6	+	6	606	c.530G>T	c.(529-531)gGg>gTg	p.G177V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	177	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.G177V(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCACGTGGGGATGGAAGC	0.632																																																	1	Substitution - Missense(1)	lung(1)											114	93	100					3																	52536690		2203	4300	6503	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.530G>T	3.37:g.52536690G>T	ENSP00000312946:p.Gly177Val		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G177V	ENST00000321725.6	37	c.530	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032660	0.54790	.	.	ENSG00000010327	ENST00000321725	T	0.12569	2.67	4.79	4.79	0.61399	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	L	0.52206	1.635	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01553	-1.1326	10	0.62326	D	0.03	.	13.3667	0.60689	0.0:0.0:1.0:0.0	.	177;177	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	V	177	ENSP00000312946:G177V	ENSP00000312946:G177V	G	+	2	0	STAB1	52511730	1.000000	0.71417	0.319000	0.25293	0.603000	0.37013	5.004000	0.63966	2.210000	0.71456	0.561000	0.74099	GGG	STAB1	-	smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000010327		0.632	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2		0	61	0	G	NM_015136		52536690	1			no_errors	ENST00000321725	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.591	T	T	52536690	G	T	52536690	3	4	34	1	0	0	0	0	1	0	0	0	15284	1232	43	3	552	3	STAB1	3	52536690	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	9749200	52536690	145485740	82	8055											
LRTM1	57408	genome.wustl.edu	37	chr3	54958816	54958816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtatagttaggttctccCaagtctctcccaaggatgtg	10	12	9	10	0	2	0	0	0	2	0	5	1	3	1	2	2	0	3	2	2	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:54958816C>A	ENST00000273286.5	-	2	596	c.434G>T	c.(433-435)tGg>tTg	p.W145L	LRTM1_ENST00000493075.1_Missense_Mutation_p.W69L|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	145						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TAGGTTCTCCCAAGTCTCTCC	0.493																																																	0													94	91	92					3																	54958816		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.434G>T	3.37:g.54958816C>A	ENSP00000273286:p.Trp145Leu		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.W145L	ENST00000273286.5	37	c.434	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	C	1.325	-0.598411	0.03744	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.84146	4.87;-1.81	5.96	4.02	0.46733	.	0.469929	0.24152	N	0.041063	T	0.34483	0.0899	N	0.00009	-3.08	0.32465	N	0.543545	B	0.15930	0.015	B	0.17433	0.018	T	0.61148	-0.7121	10	0.02654	T	1	.	3.3537	0.07162	0.2413:0.494:0.1799:0.0848	.	145	Q9HBL6	LRTM1_HUMAN	L	145;69	ENSP00000273286:W145L;ENSP00000419772:W69L	ENSP00000273286:W145L	W	-	2	0	LRTM1	54933856	1.000000	0.71417	0.998000	0.56505	0.522000	0.34438	3.132000	0.50523	2.824000	0.97209	0.655000	0.94253	TGG	LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.493	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1		0	11	0	C	NM_020678		54958816	-1			no_errors	ENST00000273286	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.923	A	A	54958816	C	A	54958816	3	1	34	1	0	0	0	0	1	0	0	0	9079	595	21	3	611	3	LRTM1	3	54958816	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2422126	54958816	143063614	83	8056											
ERC2	26059	genome.wustl.edu	37	chr3	56026193	56026193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgccacactcgtcgCggtagtaagacgcctcttta	7	10	11	13	4	1	1	0	0	1	1	3	1	1	1	3	2	1	2	3	2	3	5	rs375730540		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:56026193C>G	ENST00000288221.6	-	11	2402	c.2147G>C	c.(2146-2148)cGc>cCc	p.R716P		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	716						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACACTCGTCGCGGTAGTAAGA	0.473																																																	0													192	186	188					3																	56026193		1910	4127	6037	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2147G>C	3.37:g.56026193C>G	ENSP00000288221:p.Arg716Pro		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.R716P	ENST00000288221.6	37	c.2147	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.58|18.58	3.654060|3.654060	0.67472|0.67472	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000492584|ENST00000288221	.|T	.|0.49139	.|0.79	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.049024	.|0.85682	.|D	.|0.000000	T|T	0.59046|0.59046	0.2165|0.2165	M|M	0.70275|0.70275	2.135|2.135	0.44373|0.44373	D|D	0.997278|0.997278	.|P	.|0.50819	.|0.939	.|P	.|0.47827	.|0.558	T|T	0.63470|0.63470	-0.6630|-0.6630	5|10	.|0.66056	.|D	.|0.02	-8.2645|-8.2645	19.824|19.824	0.96608|0.96608	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|716	.|O15083	.|ERC2_HUMAN	P|P	367|716	.|ENSP00000288221:R716P	.|ENSP00000288221:R716P	A|R	-|-	1|2	0|0	ERC2|ERC2	56001233|56001233	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.908000|0.908000	0.53690|0.53690	3.877000|3.877000	0.56123|0.56123	2.699000|2.699000	0.92147|0.92147	0.591000|0.591000	0.81541|0.81541	GCG|CGC	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.473	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0	54	0	C	NM_015576		56026193	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.998	G	G	56026193	C	G	56026193	3	3	34	1	0	0	0	0	1	0	0	0	5227	768	27	5	744	5	ERC2	3	56026193	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1067377	56026193	141996237	84	8057											
ACOX2	8309	genome.wustl.edu	37	chr3	58503001	58503001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaccagacaggaaggcGtcatggagaaagtcacccga	13	4	14	10	2	2	2	2	0	0	2	2	5	2	3	2	4	0	1	2	4	2	0	rs142302007		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:58503001G>T	ENST00000302819.5	-	13	2073	c.1782C>A	c.(1780-1782)gaC>gaA	p.D594E	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Missense_Mutation_p.D580E	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	594					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.D594D(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		ACAGGAAGGCGTCATGGAGAA	0.527																																																	1	Substitution - coding silent(1)	endometrium(1)											128	113	118					3																	58503001		2203	4300	6503	SO:0001583	missense	0			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"trihydroxycoprostanoyl-CoA oxidase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"	601641	"acyl-Coenzyme A oxidase 2, branched chain"			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1782C>A	3.37:g.58503001G>T	ENSP00000307697:p.Asp594Glu		A6NF16|B2R8U5	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.D594E	ENST00000302819.5	37	c.1782	CCDS33775.1	3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326308	0.60743	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.40225	1.04;1.04	4.9	-3.11	0.05299	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.64402	D	0.000002	T	0.56046	0.1959	M	0.81942	2.565	0.44660	D	0.997649	D	0.60160	0.987	P	0.62740	0.906	T	0.59553	-0.7433	10	0.44086	T	0.13	-22.2622	11.3387	0.49520	0.5703:0.0:0.4297:0.0	.	594	Q99424	ACOX2_HUMAN	E	580;594	ENSP00000418562:D580E;ENSP00000307697:D594E	ENSP00000307697:D594E	D	-	3	2	ACOX2	58478041	0.714000	0.27936	0.989000	0.46669	0.786000	0.44442	-0.301000	0.08232	-0.396000	0.07703	-0.324000	0.08512	GAC	ACOX2	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000168306		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	-	0	48	0	G			58503001	-1	tier1	-	no_errors	ENST00000302819	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.994	T	T	58503001	G	T	58503001	3	4	34	1	0	0	0	0	1	0	0	0	159	1136	40	2	275	2	ACOX2	3	58503001	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2476808	58503001	139519429	85	8058											
ROBO2	6092	genome.wustl.edu	37	chr3	77600066	77600066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacattcaacgttccgacgCgggttactacatctgccagg	10	9	9	13	4	2	0	1	0	1	0	3	1	3	0	2	2	5	2	2	2	4	4	rs199705591		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:77600066C>T	ENST00000461745.1	+	8	2057	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	ROBO2_ENST00000332191.8_Missense_Mutation_p.A386V|ROBO2_ENST00000487694.3_Missense_Mutation_p.A402V	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	386	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGTTCCGACGCGGGTTACTAC	0.473																																																	0													79	78	78					3																	77600066		1933	4145	6078	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1157C>T	3.37:g.77600066C>T	ENSP00000417164:p.Ala386Val		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A386V	ENST00000461745.1	37	c.1157	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406025	0.42715	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.68479	-0.33;-0.33;-0.33	5.49	4.55	0.56014	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000351	T	0.75072	0.3800	L	0.50919	1.6	0.39718	D	0.971425	D;D;D	0.69078	0.995;0.997;0.995	D;D;D	0.67231	0.938;0.942;0.95	T	0.72398	-0.4306	9	0.26408	T	0.33	.	16.0733	0.80951	0.0:0.866:0.134:0.0	.	402;386;386	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	V	402;402;406;386;386;107	ENSP00000417335:A402V;ENSP00000417164:A386V;ENSP00000327536:A386V	ENSP00000327536:A386V	A	+	2	0	ROBO2	77682756	1.000000	0.71417	0.225000	0.23894	0.113000	0.19764	6.001000	0.70685	2.742000	0.94016	0.591000	0.81541	GCG	ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000185008		0.473	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	32	0	C	XM_031246		77600066	1	tier1	rs199705591	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	60.34	23	35	SNP	0.999	T	T	77600066	C	T	77600066	3	4	34	1	0	0	0	0	1	0	0	0	13559	768	27	1	1189	1	ROBO2	3	77600066	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	19097065	77600066	120422364	86	8059											
ROBO1	6091	genome.wustl.edu	37	chr3	78649389	78649389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcttgatgacattgaGcttgaggaactgggatctct	9	13	11	8	0	2	4	0	4	2	0	4	7	3	6	1	2	2	1	1	2	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:78649389G>T	ENST00000464233.1	-	30	4928	c.4815C>A	c.(4813-4815)agC>agA	p.S1605R	ROBO1_ENST00000436010.2_Missense_Mutation_p.S1566R|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1505R|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1560R|ROBO1_ENST00000466906.1_5'UTR	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1605					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.S1609S(1)|p.S1582S(1)|p.S1560S(1)|p.S1605S(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGACATTGAGCTTGAGGAAC	0.383																																																	4	Substitution - coding silent(4)	endometrium(4)											162	150	154					3																	78649389		1882	4106	5988	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4815C>A	3.37:g.78649389G>T	ENSP00000420321:p.Ser1605Arg		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1605R	ENST00000464233.1	37	c.4815	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852508	0.51270	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.64438	0.01;-0.02;-0.01;-0.1	5.61	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	L	0.27053	0.805	0.49798	D	0.999825	B;D;D;D	0.64830	0.057;0.99;0.964;0.994	B;D;P;D	0.71870	0.007;0.944;0.532;0.975	T	0.61247	-0.7101	9	.	.	.	.	11.9455	0.52926	0.1404:0.0:0.8596:0.0	.	1605;1560;1505;1566	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	R	1566;1560;1605;1560;1505;1609	ENSP00000406043:S1566R;ENSP00000420321:S1605R;ENSP00000420637:S1560R;ENSP00000417992:S1505R	.	S	-	3	2	ROBO1	78732079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.540000	0.53611	0.741000	0.32674	0.555000	0.69702	AGC	ROBO1	-	NULL	ENSG00000169855		0.383	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1		0	14	0	G	NM_002941		78649389	-1			no_errors	ENST00000464233	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	78649389	G	T	78649389	3	4	34	1	0	0	0	0	1	0	0	0	13558	962	34	3	148	3	ROBO1	3	78649389	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1049323	78649389	119373041	87	8060											
C3orf26	84319	genome.wustl.edu	37	chr3	99886581	99886581	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttctgttcttttttccaGtttgtcctaagtgggtaaaa	7	20	8	6	0	2	0	0	0	2	0	4	0	4	0	2	1	0	4	2	1	3	9			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:99886581G>T	ENST00000421999.2	+	6	561		c.e6-1		CMSS1_ENST00000489081.1_Splice_Site	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)								poly(A) RNA binding (GO:0044822)										CTTTTTTCCAGTTTGTCCTAA	0.418																																																	0													153	158	156					3																	99886581		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 26"	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.416-1G>T	3.37:g.99886581G>T			A8K5S7|B4DUM1|E9PHS3	Splice_Site	SNP	-	e6-1	ENST00000421999.2	37	c.416-1	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366299	0.41902	.	.	ENSG00000184220	ENST00000421999;ENST00000489081;ENST00000478909;ENST00000497345	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2327	0.89939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf26	101369271	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	8.201000	0.89735	2.642000	0.89623	0.655000	0.94253	.	CMSS1	-	-	ENSG00000184220		0.418	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1		0	19	0	G	NM_032359	Intron	99886581	1			no_errors	ENST00000421999	ensembl	human	known	74_37	splice_site	9.09	30	3	SNP	1.000	T	T	99886581	G	T	99886581	5	4	34	1	0	0	0	0	0	0	1	0	2225	1043	36	3	451	3	C3orf26	3	99886581	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	21237192	99886581	98135849	88	8061											
ZBTB11	27107	genome.wustl.edu	37	chr3	101371709	101371709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatcacaaaattggcactGgaatggcttcacaccaagat	14	10	7	10	0	2	1	2	0	0	1	2	2	2	2	1	3	0	2	1	3	5	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:101371709G>T	ENST00000312938.4	-	9	2963	c.2383C>A	c.(2383-2385)Cag>Aag	p.Q795K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	795					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AATTGGCACTGGAATGGCTTC	0.388																																																	0													143	134	137					3																	101371709		2203	4300	6503	SO:0001583	missense	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2383C>A	3.37:g.101371709G>T	ENSP00000326200:p.Gln795Lys		Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Q795K	ENST00000312938.4	37	c.2383	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171594	0.57584	.	.	ENSG00000066422	ENST00000312938	T	0.16597	2.33	4.92	4.92	0.64577	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063991	0.64402	D	0.000004	T	0.09379	0.0231	N	0.12443	0.215	0.80722	D	1	P	0.38617	0.64	B	0.36567	0.228	T	0.27054	-1.0085	10	0.10902	T	0.67	-6.1529	14.1378	0.65297	0.0:0.1501:0.8499:0.0	.	795	O95625	ZBT11_HUMAN	K	795	ENSP00000326200:Q795K	ENSP00000326200:Q795K	Q	-	1	0	ZBTB11	102854399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.455000	0.80726	2.420000	0.82092	0.655000	0.94253	CAG	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066422		0.388	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2		0	22	0	G	NM_014415		101371709	-1			no_errors	ENST00000312938	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	101371709	G	T	101371709	3	4	34	1	0	0	0	0	1	0	0	0	17572	1357	47	3	790	3	ZBTB11	3	101371709	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1485128	101371709	96650721	89	8062											
CCDC80	151887	genome.wustl.edu	37	chr3	112357842	112357842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcgctgcccaggcttGgccttcctgctccccctcca	2	12	7	20	1	2	0	0	0	2	0	6	0	5	0	6	2	2	3	6	2	0	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:112357842G>A	ENST00000206423.3	-	2	1864	c.911C>T	c.(910-912)cCa>cTa	p.P304L	CCDC80_ENST00000439685.2_Missense_Mutation_p.P304L|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	304					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GCCCAGGCTTGGCCTTCCTGC	0.587																																																	0													121	108	112					3																	112357842		2203	4300	6503	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.911C>T	3.37:g.112357842G>A	ENSP00000206423:p.Pro304Leu		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.P304L	ENST00000206423.3	37	c.911	CCDS2968.1	3	.	.	.	.	.	.	.	.	.	.	G	3.853	-0.031458	0.07543	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.44482	0.92;0.92	4.5	1.69	0.24217	.	0.756993	0.12460	N	0.466956	T	0.25531	0.0621	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.18461	-1.0336	10	0.35671	T	0.21	-0.0096	7.4305	0.27124	0.0759:0.0:0.4988:0.4253	.	315;304;304	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	L	304	ENSP00000206423:P304L;ENSP00000411814:P304L	ENSP00000206423:P304L	P	-	2	0	CCDC80	113840532	0.020000	0.18652	0.001000	0.08648	0.032000	0.12392	1.748000	0.38308	0.143000	0.18926	-1.426000	0.01102	CCA	CCDC80	-	NULL	ENSG00000091986		0.587	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	-	0	71	0	G	NM_199511		112357842	-1	tier1	-	no_errors	ENST00000206423	ensembl	human	known	74_37	missense	27.91	31	12	SNP	0.000	A	A	112357842	G	A	112357842	3	1	34	1	0	0	0	0	1	0	0	0	2861	1348	47	3	1969	3	CCDC80	3	112357842	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10986133	112357842	85664588	90	8063											
NAA50	80218	genome.wustl.edu	37	chr3	113442354	113442354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaatgatccaccctacaGcatactgcacctacagcaat	13	9	6	13	0	0	2	0	2	0	0	1	2	1	2	3	0	6	3	3	0	5	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:113442354G>A	ENST00000240922.3	-	3	504	c.180C>T	c.(178-180)tgC>tgT	p.C60C	NAA50_ENST00000467022.1_5'Flank|NAA50_ENST00000493454.1_5'UTR|NAA50_ENST00000493900.1_Silent_p.C59C|NAA50_ENST00000497255.1_Intron|NAA50_ENST00000497525.1_5'UTR|NAA50_ENST00000477813.1_Intron	NM_025146.2	NP_079422.1	Q9GZZ1	NAA50_HUMAN	N(alpha)-acetyltransferase 50, NatE catalytic subunit	60	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				histone H4 acetylation (GO:0043967)|mitotic sister chromatid cohesion, centromeric (GO:0071962)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)|peptidyl-lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0052858)			large_intestine(2)|lung(2)|skin(1)	5						CCACCCTACAGCATACTGCAC	0.378																																																	0													108	100	103					3																	113442354		2203	4299	6502	SO:0001819	synonymous_variant	0			AK023256	CCDS2975.1	3q13.31	2010-05-07	2010-01-14	2010-01-14	ENSG00000121579	ENSG00000121579	2.3.1.-	"N(alpha)-acetyltransferase subunits"	29533	protein-coding gene	gene with protein product		610834	"Mak3 homolog (S. cerevisiae)", "N-acetyltransferase 13", "N-acetyltransferase 13 (GCN5-related)"	MAK3, NAT13		16507339, 17502424, 19660095	Standard	NM_025146		Approved	FLJ13194, NAT5, San	uc003ean.2	Q9GZZ1	OTTHUMG00000159294	ENST00000240922.3:c.180C>T	3.37:g.113442354G>A			D3DN74|Q68DQ1	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.C60	ENST00000240922.3	37	c.180	CCDS2975.1	3																																																																																			NAA50	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000121579		0.378	NAA50-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA50	HGNC	protein_coding	OTTHUMT00000354446.2		0	16	0	G	NM_025146		113442354	-1			no_errors	ENST00000240922	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	A	A	113442354	G	A	113442354	2	1	34	1	0	0	0	0	0	0	0	1	10164	963	34	3		3	NAA50	3	113442354	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1084512	113442354	84580076	91	8064											
FBXO40	51725	genome.wustl.edu	37	chr3	121340592	121340592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaccgctggccaaatgtgGactctgaaaccacccttcat	11	8	9	13	1	2	1	1	1	1	0	2	3	2	3	4	3	2	1	4	3	3	1	rs570315447		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:121340592G>T	ENST00000338040.4	+	3	730	c.316G>T	c.(316-318)Gac>Tac	p.D106Y		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	106					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GCCAAATGTGGACTCTGAAAC	0.582																																																	0													57	61	60					3																	121340592		2203	4300	6503	SO:0001583	missense	0			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.316G>T	3.37:g.121340592G>T	ENSP00000337510:p.Asp106Tyr		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.D106Y	ENST00000338040.4	37	c.316	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920027	0.33908	.	.	ENSG00000163833	ENST00000338040	T	0.38240	1.15	5.47	5.47	0.80525	.	0.153882	0.64402	D	0.000018	T	0.52419	0.1733	L	0.45698	1.435	0.50171	D	0.999858	D	0.89917	1.0	D	0.72338	0.977	T	0.37267	-0.9713	10	0.28530	T	0.3	-25.2694	16.807	0.85708	0.0:0.0:1.0:0.0	.	106	Q9UH90	FBX40_HUMAN	Y	106	ENSP00000337510:D106Y	ENSP00000337510:D106Y	D	+	1	0	FBXO40	122823282	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.575000	0.74018	2.584000	0.87258	0.655000	0.94253	GAC	FBXO40	-	NULL	ENSG00000163833		0.582	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	-	0	49	0	G	NM_016298		121340592	1	tier1	-	no_errors	ENST00000338040	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.997	T	T	121340592	G	T	121340592	3	4	34	1	0	0	0	0	1	0	0	0	5771	1174	41	3	322	3	FBXO40	3	121340592	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7898238	121340592	76681838	92	8065											
RUVBL1	8607	genome.wustl.edu	37	chr3	127801415	127801415	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggcacggattttaatGatcttttaaaggataaaaaa	15	13	9	4	1	2	1	0	1	2	0	2	3	2	3	0	3	0	1	0	3	6	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:127801415G>T	ENST00000322623.5	-	10	1221	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	RUVBL1_ENST00000417360.1_Intron|RUVBL1_ENST00000464873.1_Intron|RUVBL1_ENST00000480616.1_5'Flank	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	374					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.I374I(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		GGATTTTAATGATCTTTTAAA	0.458																																																	1	Substitution - coding silent(1)	large_intestine(1)											107	81	90					3																	127801415		2203	4300	6503	SO:0001819	synonymous_variant	0			AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"INO80 complex subunits", "ATPases / AAA-type"	10474	protein-coding gene	gene with protein product	"pontin", "INO80 complex subunit H"	603449	"RuvB (E coli homolog)-like 1", "RuvB-like 1 (E. coli)", "RuvB-like AAA ATPase"			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1122C>A	3.37:g.127801415G>T			B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Silent	SNP	pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase	p.I374	ENST00000322623.5	37	c.1122	CCDS3047.1	3																																																																																			RUVBL1	-	pfam_TIP49_C,superfamily_P-loop_NTPase	ENSG00000175792		0.458	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL1	HGNC	protein_coding	OTTHUMT00000356728.2		0	62	0	G			127801415	-1			no_errors	ENST00000322623	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T	T	127801415	G	T	127801415	2	4	34	1	0	0	0	0	0	0	0	1	13797	1280	45	3		3	RUVBL1	3	127801415	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6460823	127801415	70221015	93	8066											
PPP2R3A	5523	genome.wustl.edu	37	chr3	135720957	135720957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttcttcaaaacttttCtgaagaagacttggttactc	11	16	6	8	0	3	3	1	1	2	2	4	3	3	3	0	1	2	2	0	1	5	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:135720957C>A	ENST00000264977.3	+	2	1234	c.617C>A	c.(616-618)tCt>tAt	p.S206Y	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	206					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAAAACTTTTCTGAAGAAGAC	0.363																																																	0													56	62	60					3																	135720957		2203	4299	6502	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.617C>A	3.37:g.135720957C>A	ENSP00000264977:p.Ser206Tyr		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.S206Y	ENST00000264977.3	37	c.617	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035916	0.54896	.	.	ENSG00000073711	ENST00000264977	T	0.08370	3.1	5.34	5.34	0.76211	.	0.139535	0.48767	D	0.000172	T	0.21267	0.0512	L	0.54323	1.7	0.80722	D	1	D	0.67145	0.996	P	0.56700	0.804	T	0.00162	-1.1971	10	0.87932	D	0	.	18.0392	0.89314	0.0:1.0:0.0:0.0	.	206	Q06190	P2R3A_HUMAN	Y	206	ENSP00000264977:S206Y	ENSP00000264977:S206Y	S	+	2	0	PPP2R3A	137203647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.775000	0.62346	2.484000	0.83849	0.655000	0.94253	TCT	PPP2R3A	-	NULL	ENSG00000073711		0.363	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1		0	22	0	C	NM_002718		135720957	1			no_errors	ENST00000264977	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	135720957	C	A	135720957	3	1	34	1	0	0	0	0	1	0	0	0	12430	913	32	3	619	3	PPP2R3A	3	135720957	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	7919542	135720957	62301473	94	8067											
RASA2	5922	genome.wustl.edu	37	chr3	141305501	141305501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcagtgagatgtataaaAgagctcaaggaagaactcgg	15	8	13	5	1	1	3	1	1	0	3	2	5	1	4	0	3	2	3	0	3	6	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:141305501A>G	ENST00000452898.1	+	19	1875	c.1840A>G	c.(1840-1842)Aga>Gga	p.R614G	RASA2_ENST00000286364.3_Missense_Mutation_p.R614G|RASA2_ENST00000509118.1_3'UTR	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	614	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GATGTATAAAAGAGCTCAAGG	0.338																																																	0													53	56	55					3																	141305501		2203	4300	6503	SO:0001583	missense	0			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"Pleckstrin homology (PH) domain containing"	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1840A>G	3.37:g.141305501A>G	ENSP00000391677:p.Arg614Gly		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.R614G	ENST00000452898.1	37	c.1840		3	.	.	.	.	.	.	.	.	.	.	A	19.02	3.745457	0.69418	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	T;T	0.76578	-1.03;-1.03	5.42	4.23	0.50019	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (3);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	D	0.89083	0.6614	M	0.90542	3.125	0.58432	D	0.999991	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	D	0.90037	0.4139	10	0.87932	D	0	.	11.5094	0.50484	0.714:0.2859:0.0:0.0	.	206;614;614;614	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	G	614;614;206	ENSP00000286364:R614G;ENSP00000391677:R614G	ENSP00000286364:R614G	R	+	1	2	RASA2	142788191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.306000	0.51881	0.968000	0.38212	0.533000	0.62120	AGA	RASA2	-	pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000155903		0.338	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding			0	14	0	A	NM_006506		141305501	1			no_errors	ENST00000452898	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	G	G	141305501	A	G	141305501	3	3	34	1	0	0	0	0	1	0	0	0	13106	64	3	4	1914	4	RASA2	3	141305501	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	5584544	141305501	56716929	95	8068											
TRPC1	7220	genome.wustl.edu	37	chr3	142511681	142511681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtttcatgattttgctGatcggaaggattgggatgca	9	15	12	5	1	1	2	1	2	0	0	2	5	1	5	0	3	2	3	0	3	2	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:142511681G>T	ENST00000476941.1	+	9	1939	c.1453G>T	c.(1453-1455)Gat>Tat	p.D485Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.D451Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	485					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGATTTTGCTGATCGGAAGGA	0.353																																																	0													151	135	140					3																	142511681		2203	4300	6503	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1453G>T	3.37:g.142511681G>T	ENSP00000419313:p.Asp485Tyr		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D485Y	ENST00000476941.1	37	c.1453	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626170	0.66901	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79749	-0.99;-1.3	5.21	5.21	0.72293	Ion transport (1);	0.139552	0.64402	D	0.000007	T	0.75243	0.3823	L	0.38838	1.175	0.58432	D	0.999994	P;P	0.42296	0.642;0.775	B;B	0.38264	0.183;0.269	T	0.79683	-0.1701	10	0.87932	D	0	-19.7456	19.1221	0.93367	0.0:0.0:1.0:0.0	.	485;451	P48995;P48995-2	TRPC1_HUMAN;.	Y	485;451	ENSP00000419313:D485Y;ENSP00000273482:D451Y	ENSP00000273482:D451Y	D	+	1	0	TRPC1	143994371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.604000	0.82830	2.585000	0.87301	0.650000	0.86243	GAT	TRPC1	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000144935		0.353	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1		0	15	0	G	NM_003304		142511681	1			no_errors	ENST00000476941	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	142511681	G	T	142511681	3	4	34	1	0	0	0	0	1	0	0	0	16626	1290	45	3	1381	3	TRPC1	3	142511681	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1206180	142511681	55510749	96	8069											
HPS3	84343	genome.wustl.edu	37	chr3	148868421	148868421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcactgtgcggtgcagtgCggcggcagctcgtgaggagg	5	9	18	9	4	1	1	1	1	0	0	2	2	1	2	0	5	4	3	0	5	0	1	rs138874465		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:148868421C>T	ENST00000296051.2	+	6	1339	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	HPS3_ENST00000460120.1_Missense_Mutation_p.A235V	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	400					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGGTGCAGTGCGGCGGCAGCT	0.532									Hermansky-Pudlak syndrome																																								0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	127	112	117		1199	5.3	0.3	3	dbSNP_134	117	0,8600		0,0,4300	no	missense	HPS3	NM_032383.3	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	400/1005	148868421	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1199C>T	3.37:g.148868421C>T	ENSP00000296051:p.Ala400Val		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_HPS3	p.A400V	ENST00000296051.2	37	c.1199	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687050	0.88639	2.27E-4	0.0	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.65549	-0.16;-0.16	5.27	5.27	0.74061	.	0.117422	0.56097	D	0.000022	T	0.69178	0.3082	L	0.47016	1.485	0.58432	D	0.99999	D;D	0.71674	0.998;0.978	P;P	0.53450	0.726;0.602	T	0.72663	-0.4225	10	0.87932	D	0	-10.5517	19.2421	0.93888	0.0:1.0:0.0:0.0	.	235;400	G5E9V4;Q969F9	.;HPS3_HUMAN	V	400;235	ENSP00000296051:A400V;ENSP00000418230:A235V	ENSP00000296051:A400V	A	+	2	0	HPS3	150351111	1.000000	0.71417	0.331000	0.25455	0.795000	0.44927	6.504000	0.73704	2.621000	0.88768	0.650000	0.86243	GCG	HPS3	-	pirsf_HPS3	ENSG00000163755		0.532	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	-	0	88	0	C	NM_032383		148868421	1	tier1	rs138874465	no_errors	ENST00000296051	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.997	T	T	148868421	C	T	148868421	3	4	34	1	0	0	0	0	1	0	0	0	7367	768	27	1	1221	1	HPS3	3	148868421	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	6356740	148868421	49154009	97	8070											
LXN	56925	genome.wustl.edu	37	chr3	158384523	158384523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagaacttgcatttgccagGgaataatctcctgcaagtga	13	10	10	8	0	1	2	0	1	1	1	2	4	1	3	2	1	4	2	2	1	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:158384523G>T	ENST00000264265.3	-	6	795	c.581C>A	c.(580-582)cCc>cAc	p.P194H	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	194	Cystatin-like fold 2. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CATTTGCCAGGGAATAATCTC	0.358																																																	0													99	93	95					3																	158384523		2203	4300	6503	SO:0001583	missense	0			AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.581C>A	3.37:g.158384523G>T	ENSP00000264265:p.Pro194His		Q96PN2|Q9NQS6	Missense_Mutation	SNP	pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin	p.P194H	ENST00000264265.3	37	c.581	CCDS3183.1	3	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190619	0.38707	.	.	ENSG00000079257	ENST00000264265	T	0.27256	1.68	6.08	6.08	0.98989	.	0.112583	0.64402	D	0.000006	T	0.43700	0.1259	L	0.58428	1.81	0.52099	D	0.999944	D	0.55605	0.972	P	0.59221	0.854	T	0.04053	-1.0981	10	0.12766	T	0.61	-13.9419	20.2585	0.98435	0.0:0.0:1.0:0.0	.	194	Q9BS40	LXN_HUMAN	H	194	ENSP00000264265:P194H	ENSP00000264265:P194H	P	-	2	0	LXN	159867217	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.197000	0.65141	2.894000	0.99253	0.655000	0.94253	CCC	LXN	-	pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin	ENSG00000079257		0.358	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LXN	HGNC	protein_coding	OTTHUMT00000352284.1		0	13	0	G	NM_020169		158384523	-1			no_errors	ENST00000264265	ensembl	human	known	74_37	missense	9.09	39	4	SNP	0.998	T	T	158384523	G	T	158384523	3	4	34	1	0	0	0	0	1	0	0	0	9125	1232	43	3	91	3	LXN	3	158384523	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	9516102	158384523	39637907	98	8071											
MCF2L2	23101	genome.wustl.edu	37	chr3	183107506	183107506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatggcaaattgtctGtgaagttgttctattatctc	12	15	9	5	0	3	2	0	1	3	1	4	3	3	2	0	1	0	3	0	1	6	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:183107506G>T	ENST00000328913.3	-	2	435	c.138C>A	c.(136-138)caC>caA	p.H46Q	MCF2L2_ENST00000414362.2_Missense_Mutation_p.H46Q|MCF2L2_ENST00000447025.2_Missense_Mutation_p.H46Q|MCF2L2_ENST00000473233.1_Missense_Mutation_p.H46Q	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	46	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAAATTGTCTGTGAAGTTGTT	0.433																																																	0													130	120	123					3																	183107506		2203	4300	6503	SO:0001583	missense	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.138C>A	3.37:g.183107506G>T	ENSP00000328118:p.His46Gln		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H46Q	ENST00000328913.3	37	c.138	CCDS3243.1	3	.	.	.	.	.	.	.	.	.	.	G	10.43	1.346935	0.24426	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362;ENST00000482017	T;T;T;T;T	0.39406	4.74;4.75;3.86;3.62;1.08	4.79	4.79	0.61399	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.074985	0.51477	D	0.000085	T	0.37265	0.0997	N	0.11000	0.08	0.35148	D	0.769464	B;B;D	0.62365	0.113;0.041;0.991	B;B;P	0.60886	0.032;0.032;0.88	T	0.42327	-0.9458	10	0.24483	T	0.36	.	10.6248	0.45502	0.091:0.0:0.909:0.0	.	46;46;46	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	Q	46;46;46;46;18	ENSP00000328118:H46Q;ENSP00000420070:H46Q;ENSP00000388190:H46Q;ENSP00000414131:H46Q;ENSP00000417345:H18Q	ENSP00000328118:H46Q	H	-	3	2	MCF2L2	184590200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.983000	0.49345	2.353000	0.79882	0.557000	0.71058	CAC	MCF2L2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000053524		0.433	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1		0	28	0	G	NM_015078		183107506	-1			no_errors	ENST00000328913	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	183107506	G	T	183107506	3	4	34	1	0	0	0	0	1	0	0	0	9418	1368	48	3	3322	3	MCF2L2	3	183107506	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	24722983	183107506	14914924	99	8072											
MASP1	5648	genome.wustl.edu	37	chr3	186953746	186953746	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgacgctgtaattgcccGagcgggactcatagctagtt	8	10	12	11	4	1	1	1	1	0	0	1	3	1	2	2	1	3	4	2	1	3	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:186953746G>A	ENST00000337774.5	-	10	1693				MASP1_ENST00000392472.2_Missense_Mutation_p.S525L|MASP1_ENST00000296280.6_Missense_Mutation_p.S638L|MASP1_ENST00000495249.1_5'UTR	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTAATTGCCCGAGCGGGACTC	0.542																																																	0													105	85	92					3																	186953746		2203	4300	6503	SO:0001627	intron_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5522C>T	3.37:g.186953746G>A			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.S638L	ENST00000337774.5	37	c.1913	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508467	0.64410	.	.	ENSG00000127241	ENST00000296280;ENST00000392472	D;D	0.83335	-1.69;-1.71	5.87	4.94	0.65067	.	0.439108	0.26963	N	0.021608	T	0.73458	0.3589	N	0.16098	0.37	0.80722	D	1	P;B	0.46912	0.886;0.286	P;B	0.45099	0.469;0.091	T	0.73975	-0.3813	10	0.35671	T	0.21	.	13.2154	0.59856	0.0824:0.0:0.9176:0.0	.	525;638	P48740-4;P48740-2	.;.	L	638;525	ENSP00000296280:S638L;ENSP00000376264:S525L	ENSP00000296280:S638L	S	-	2	0	MASP1	188436440	1.000000	0.71417	0.019000	0.16419	0.947000	0.59692	7.780000	0.85658	1.491000	0.48482	0.655000	0.94253	TCG	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000127241		0.542	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0	37	0	G	NM_001879		186953746	-1	tier1	-	no_errors	ENST00000296280	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.964	A	A	186953746	G	A	186953746	1	1	34	0	1	0	0	0	0	0	0	0	9360	1059	37	1		1	MASP1	3	186953746	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3846240	186953746	11068684	100	8073											
TP63	8626	genome.wustl.edu	37	chr3	189586371	189586371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttattctaattcctagtgGgcaagtcctgggccgacgct	7	13	10	11	2	1	0	0	0	1	0	3	1	3	0	3	2	0	2	3	2	4	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:189586371G>T	ENST00000264731.3	+	8	1084	c.995G>T	c.(994-996)gGg>gTg	p.G332V	TP63_ENST00000449992.1_Missense_Mutation_p.G153V|TP63_ENST00000392463.2_Missense_Mutation_p.G238V|TP63_ENST00000440651.2_Missense_Mutation_p.G332V|TP63_ENST00000418709.2_Missense_Mutation_p.G332V|TP63_ENST00000392461.3_Missense_Mutation_p.G238V|TP63_ENST00000392460.3_Missense_Mutation_p.G332V|TP63_ENST00000354600.5_Missense_Mutation_p.G238V|TP63_ENST00000437221.1_Missense_Mutation_p.G238V|TP63_ENST00000320472.5_Missense_Mutation_p.G332V|TP63_ENST00000456148.1_Missense_Mutation_p.G238V|TP63_ENST00000382063.4_Missense_Mutation_p.G247V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	332					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATTCCTAGTGGGCAAGTCCTG	0.498										HNSCC(45;0.13)																																							0													51	51	51					3																	189586371		2203	4300	6503	SO:0001583	missense	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.995G>T	3.37:g.189586371G>T	ENSP00000264731:p.Gly332Val		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G332V	ENST00000264731.3	37	c.995	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543319	0.86022	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99957	-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-9.0;-6.93;-9.0	5.83	5.83	0.93111	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99957	0.9982	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.85130	0.991;0.995;0.995;0.991;0.991;0.991;0.995;0.997;0.997;0.995	D	0.96083	0.9055	9	.	.	.	-10.0007	19.1141	0.93331	0.0:0.0:1.0:0.0	.	153;332;332;238;238;238;238;332;332;332	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	V	332;332;332;332;332;247;238;238;238;238;153;238	ENSP00000264731:G332V;ENSP00000407144:G332V;ENSP00000317510:G332V;ENSP00000376253:G332V;ENSP00000394337:G332V;ENSP00000371495:G247V;ENSP00000346614:G238V;ENSP00000392488:G238V;ENSP00000376256:G238V;ENSP00000376254:G238V;ENSP00000387839:G153V;ENSP00000389485:G238V	.	G	+	2	0	TP63	191069065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.700000	0.98707	2.749000	0.94314	0.655000	0.94253	GGG	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000073282		0.498	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	-	0	79	0	G	NM_003722		189586371	1	tier1	-	no_errors	ENST00000264731	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	189586371	G	T	189586371	3	4	34	1	0	0	0	0	1	0	0	0	16440	1232	43	3	1071	3	TP63	3	189586371	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2632625	189586371	8436059	101	8074											
TP63	8626	genome.wustl.edu	37	chr3	189587178	189587178	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgaagatccccagatgatGaactgttatacttaccagta	15	10	7	9	1	0	4	0	2	0	2	1	5	1	4	3	0	4	2	3	0	7	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:189587178G>T	ENST00000264731.3	+	9	1284	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	TP63_ENST00000449992.1_Nonsense_Mutation_p.E220*|TP63_ENST00000392463.2_Nonsense_Mutation_p.E305*|TP63_ENST00000440651.2_Nonsense_Mutation_p.E395*|TP63_ENST00000418709.2_Nonsense_Mutation_p.E399*|TP63_ENST00000392461.3_Nonsense_Mutation_p.E305*|TP63_ENST00000392460.3_Nonsense_Mutation_p.E399*|TP63_ENST00000354600.5_Nonsense_Mutation_p.E305*|TP63_ENST00000437221.1_Nonsense_Mutation_p.E305*|TP63_ENST00000320472.5_Nonsense_Mutation_p.E399*|TP63_ENST00000456148.1_Nonsense_Mutation_p.E301*|TP63_ENST00000382063.4_Nonsense_Mutation_p.E314*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	399	Oligomerization.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCAGATGATGAACTGTTATA	0.408										HNSCC(45;0.13)																																							0													157	132	140					3																	189587178		2203	4300	6503	SO:0001587	stop_gained	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"tumor protein p73-like", "tumor protein p53-like", "tumor protein p53-competing protein"	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1195G>T	3.37:g.189587178G>T	ENSP00000264731:p.Glu399*		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.E399*	ENST00000264731.3	37	c.1195	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.829757	0.96996	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.3003	17.3209	0.87235	0.0:0.0:1.0:0.0	.	.	.	.	X	399;399;399;399;395;314;305;305;305;305;220;301	.	.	E	+	1	0	TP63	191069872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.766000	0.95052	0.655000	0.94253	GAA	TP63	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000073282		0.408	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1		0	20	0	G	NM_003722		189587178	1			no_errors	ENST00000264731	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	189587178	G	T	189587178	4	4	34	1	0	0	0	0	0	1	0	0	16440	1291	45	3	1275	3	TP63	3	189587178	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	807	189587178	8435252	102	8075											
LEPREL1	55214	genome.wustl.edu	37	chr3	189692408	189692408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgttatccaggagaaccCgctgagtcccgttcagctgc	8	8	12	13	3	1	2	1	1	0	1	3	4	3	3	3	2	3	4	3	2	2	2	rs537288155		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr3:189692408C>T	ENST00000319332.5	-	9	1588	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R283Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	464					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.R464Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAGGAGAACCCGCTGAGTCCC	0.567													C|||	1	0.000199681	0	0	5008	,	,		17258	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)											77	64	69					3																	189692408		2203	4300	6503	SO:0001583	missense	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1391G>A	3.37:g.189692408C>T	ENSP00000316881:p.Arg464Gln		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R464Q	ENST00000319332.5	37	c.1391	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.562310	0.96527	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.78003	-1.14;-1.14	5.81	4.94	0.65067	Prolyl 4-hydroxylase, alpha subunit (1);	0.059424	0.64402	N	0.000002	D	0.88973	0.6583	M	0.86740	2.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90267	0.4305	9	.	.	.	-19.1796	14.0904	0.64987	0.0:0.928:0.0:0.072	.	464	Q8IVL5	P3H2_HUMAN	Q	464;283	ENSP00000316881:R464Q;ENSP00000408947:R283Q	.	R	-	2	0	LEPREL1	191175102	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.406000	0.80017	1.455000	0.47813	0.655000	0.94253	CGG	LEPREL1	-	smart_Pro_4_hyd_alph	ENSG00000090530		0.567	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	-	0	59	0	C	NM_018192		189692408	-1	tier1	-	no_errors	ENST00000319332	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T	T	189692408	C	T	189692408	3	4	34	1	0	0	0	0	1	0	0	0	8758	652	23	1	763	1	LEPREL1	3	189692408	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	105230	189692408	8330022	103	8076											
HTT	3064	genome.wustl.edu	37	chr4	3156053	3156054	+	Frame_Shift_Ins	INS	-	-	T																															tctaacaaaccccccttctcINStaagtcccatccgacgaaag																										TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:3156053_3156054insT	ENST00000355072.5	+	27	3677_3678	c.3532_3533insT	c.(3532-3534)ctafs	p.L1178fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1178					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCCCTTCTCTAAGTCCCATC	0.426																																																	0																																										SO:0001589	frameshift_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3533dupT	4.37:g.3156054_3156054dupT	ENSP00000347184:p.Leu1178fs		Q9UQB7	Frame_Shift_Ins	INS	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.S1179fs	ENST00000355072.5	37	c.3532_3533	CCDS43206.1	4																																																																																			HTT	-	NULL	ENSG00000197386		0.426	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0	39	0	-	NM_002111		3156054	1	tier1		no_errors	ENST00000355072	ensembl	human	known	74_37	frame_shift_ins	10.58	93	11	INS	0.996:0.997	T	T	3156054	-	T	3156053	7	5	34	1	0	1	1	0	0	0	0	0	7484	912	32	0	3638	0	HTT	4	3156053	Frame_Shift_Ins	INS	-	TCGA-JY-A6F8-01A-11D-A33E-09		3156053	187998223	104	8077											
SH3TC1	54436	genome.wustl.edu	37	chr4	8237172	8237172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaggtggcacagaacGtggccctgtacacaggcgac	9	7	12	13	2	1	1	1	0	0	1	1	2	1	1	2	4	2	2	2	4	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:8237172G>T	ENST00000245105.3	+	15	3362	c.3295G>T	c.(3295-3297)Gtg>Ttg	p.V1099L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.V1023L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1099										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCACAGAACGTGGCCCTGTA	0.647																																					NSCLC(145;2298 2623 35616 37297)												0													71	74	73					4																	8237172		2203	4300	6503	SO:0001583	missense	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3295G>T	4.37:g.8237172G>T	ENSP00000245105:p.Val1099Leu		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.V1099L	ENST00000245105.3	37	c.3295	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332381	0.24167	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75477	-0.66;-0.94	3.6	3.6	0.41247	Tetratricopeptide-like helical (1);	0.243305	0.34245	N	0.004138	T	0.62950	0.2470	L	0.29908	0.895	0.25647	N	0.986137	B	0.16603	0.018	B	0.20767	0.031	T	0.52358	-0.8586	10	0.27785	T	0.31	-1.9044	14.9178	0.70812	0.0:0.0:1.0:0.0	.	1099	Q8TE82	S3TC1_HUMAN	L	1099;1023;928	ENSP00000245105:V1099L;ENSP00000441045:V1023L	ENSP00000245105:V1099L	V	+	1	0	SH3TC1	8288072	0.996000	0.38824	0.981000	0.43875	0.047000	0.14425	4.114000	0.57858	2.055000	0.61198	0.549000	0.68633	GTG	SH3TC1	-	NULL	ENSG00000125089		0.647	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	-	0	161	0	G	NM_018986		8237172	1	tier1	-	no_errors	ENST00000245105	ensembl	human	known	74_37	missense	14.51	165	28	SNP	0.995	T	T	8237172	G	T	8237172	3	4	34	1	0	0	0	0	1	0	0	0	14306	1145	40	2	3349	2	SH3TC1	4	8237172	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5081119	8237172	182917104	105	8078											
CPZ	8532	genome.wustl.edu	37	chr4	8620212	8620212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcggcaagccagtcaaaaaCgcccggatctcagtcaaagg	13	6	10	12	3	3	0	3	0	1	0	5	1	3	1	2	3	2	1	2	3	4	1	rs111747511	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:8620212C>T	ENST00000360986.4	+	10	1734	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	CPZ_ENST00000382480.2_Silent_p.N383N|CPZ_ENST00000429646.2_Silent_p.N128N|CPZ_ENST00000315782.6_Silent_p.N509N	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	520					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGTCAAAAACGCCCGGATCT	0.592																																																	0													117	102	107					4																	8620212		2203	4300	6503	SO:0001819	synonymous_variant	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1560C>T	4.37:g.8620212C>T			O00520|Q96MX2	Silent	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.N520	ENST00000360986.4	37	c.1560	CCDS33953.1	4																																																																																			CPZ	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000109625		0.592	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0	107	0	C	NM_003652		8620212	1	tier1	rs111747511	no_errors	ENST00000360986	ensembl	human	known	74_37	silent	34.68	81	43	SNP	0.869	T	T	8620212	C	T	8620212	2	4	34	1	0	0	0	0	0	0	0	1	3846	535	19	1		1	CPZ	4	8620212	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	383040	8620212	182534064	106	8079											
GABRA2	2555	genome.wustl.edu	37	chr4	46334652	46334652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catatctgtatctgagacagGgccaaaactggtcacgtaga	13	9	10	9	1	3	2	1	1	2	2	3	3	3	2	1	2	1	2	1	2	5	3	rs76519302		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:46334652G>T	ENST00000510861.1	-	4	408	c.235C>A	c.(235-237)Cct>Act	p.P79T	GABRA2_ENST00000507069.1_Missense_Mutation_p.P79T|GABRA2_ENST00000381620.4_Missense_Mutation_p.P79T|GABRA2_ENST00000514090.1_Missense_Mutation_p.P79T|GABRA2_ENST00000515082.1_Missense_Mutation_p.P79T|GABRA2_ENST00000356504.1_Missense_Mutation_p.P79T|GABRA2_ENST00000540012.1_Intron			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	79					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCTGAGACAGGGCCAAAACTG	0.328																																																	0													87	91	89					4																	46334652		2203	4300	6503	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.235C>A	4.37:g.46334652G>T	ENSP00000421828:p.Pro79Thr		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.P79T	ENST00000510861.1	37	c.235	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771543	0.69992	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.86	4.86	0.63082	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	M	0.72353	2.195	0.80722	D	1	B;D	0.76494	0.378;0.999	B;D	0.74023	0.169;0.982	D	0.87853	0.2659	10	0.72032	D	0.01	.	15.8633	0.79043	0.0:0.0:1.0:0.0	.	79;79	G5E9Z6;P47869	.;GBRA2_HUMAN	T	79	ENSP00000421828:P79T;ENSP00000421300:P79T;ENSP00000371033:P79T;ENSP00000348897:P79T;ENSP00000427603:P79T;ENSP00000423840:P79T;ENSP00000424362:P79T;ENSP00000424093:P79T	ENSP00000348897:P79T	P	-	1	0	GABRA2	46029409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.846000	0.75399	2.678000	0.91216	0.650000	0.86243	CCT	GABRA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000151834		0.328	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2		0	18	0	G			46334652	-1			no_errors	ENST00000356504	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	46334652	G	T	46334652	3	4	34	1	0	0	0	0	1	0	0	0	6185	1232	43	3	1148	3	GABRA2	4	46334652	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	37714440	46334652	144819624	107	8080											
SLC10A4	201780	genome.wustl.edu	37	chr4	48485912	48485912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtgttcgtgggcgccGccctgtgcatcaccatgctg	5	10	13	13	4	1	1	1	1	0	0	2	1	1	1	3	1	3	3	3	1	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:48485912G>T	ENST00000273861.4	+	1	553	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGTGGGCGCCGCCCTGTGCAT	0.731																																																	0													5	4	5					4																	48485912		2003	3919	5922	SO:0001583	missense	0			BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"Solute carriers"	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.334G>T	4.37:g.48485912G>T	ENSP00000273861:p.Ala112Ser		Q8WUZ2	Missense_Mutation	SNP	pfam_BilAc/Na_symport	p.A112S	ENST00000273861.4	37	c.334	CCDS3482.1	4	.	.	.	.	.	.	.	.	.	.	g	35	5.430813	0.96150	.	.	ENSG00000145248	ENST00000273861	T	0.12361	2.69	4.69	4.69	0.59074	.	0.113273	0.64402	D	0.000012	T	0.25568	0.0622	L	0.56340	1.77	0.37966	D	0.933147	D	0.54601	0.967	P	0.52309	0.695	T	0.06807	-1.0806	10	0.66056	D	0.02	-3.5612	17.4082	0.87479	0.0:0.0:1.0:0.0	.	112	Q96EP9	NTCP4_HUMAN	S	112	ENSP00000273861:A112S	ENSP00000273861:A112S	A	+	1	0	SLC10A4	48180669	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.930000	0.75858	2.440000	0.82611	0.486000	0.48141	GCC	SLC10A4	-	pfam_BilAc/Na_symport	ENSG00000145248		0.731	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A4	HGNC	protein_coding	OTTHUMT00000219926.3	-	0	65	0	G	NM_152679		48485912	1	tier1	-	no_errors	ENST00000273861	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	48485912	G	T	48485912	3	4	34	1	0	0	0	0	1	0	0	0	14421	1087	38	2	336	2	SLC10A4	4	48485912	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2151260	48485912	142668364	108	8081											
LNX1	84708	genome.wustl.edu	37	chr4	54373551	54373551	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttggcaactgcactcccGctctttgtccttcgaagaac	7	12	9	13	2	1	1	0	0	1	1	4	2	3	1	2	2	3	4	2	2	3	3	rs143497847	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:54373551G>A	ENST00000263925.7	-	4	1022	c.708C>T	c.(706-708)agC>agT	p.S236S	LNX1_ENST00000306888.2_Silent_p.S140S|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	236	Interaction with MAGEB18.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGCACTCCCGCTCTTTGTCC	0.473																																																	0													122	115	117					4																	54373551		2203	4300	6503	SO:0001819	synonymous_variant	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.708C>T	4.37:g.54373551G>A			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.S236	ENST00000263925.7	37	c.708	CCDS47057.1	4																																																																																			LNX1	-	superfamily_PDZ	ENSG00000072201		0.473	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	-	0	35	0	G			54373551	-1	tier1	-	no_errors	ENST00000263925	ensembl	human	known	74_37	silent	15.94	58	11	SNP	0.979	A	A	54373551	G	A	54373551	2	1	34	1	0	0	0	0	0	0	0	1	8895	1078	38	1		1	LNX1	4	54373551	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5887639	54373551	136780725	109	8082											
EXOC1	55763	genome.wustl.edu	37	chr4	56759756	56759756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgattaaaatatttcGctgcattgagccagagctga	14	12	9	6	1	0	5	0	4	0	1	1	5	0	5	1	0	3	3	1	0	4	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:56759756G>T	ENST00000381295.2	+	15	2111	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	EXOC1_ENST00000346134.7_Missense_Mutation_p.R588L|EXOC1_ENST00000349598.6_Missense_Mutation_p.R573L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	588					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAAATATTTCGCTGCATTGAG	0.348																																																	0													103	102	103					4																	56759756		2203	4300	6503	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1763G>T	4.37:g.56759756G>T	ENSP00000370695:p.Arg588Leu		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1/SEC3	p.R588L	ENST00000381295.2	37	c.1763	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883623	0.51908	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.91	5.91	0.95273	.	0.049918	0.85682	D	0.000000	T	0.56426	0.1984	N	0.22421	0.69	0.58432	D	0.999999	B;B	0.26483	0.15;0.055	B;B	0.34138	0.072;0.176	T	0.50659	-0.8802	9	0.37606	T	0.19	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	573;588	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	L	588;588;573	.	ENSP00000326514:R588L	R	+	2	0	EXOC1	56454513	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.135000	0.71696	2.813000	0.96785	0.655000	0.94253	CGC	EXOC1	-	pfam_Exocyst_Exoc1/SEC3	ENSG00000090989		0.348	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1		0	18	0	G	NM_018261		56759756	1			no_errors	ENST00000346134	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	56759756	G	T	56759756	3	4	34	1	0	0	0	0	1	0	0	0	5317	1087	38	2	1817	2	EXOC1	4	56759756	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2386205	56759756	134394520	110	8083											
CEP135	9662	genome.wustl.edu	37	chr4	56885519	56885519	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttactttgtttttcacgtagGttgtggtggaattagaaaat	10	18	10	3	1	1	1	1	0	0	1	1	2	1	2	0	3	1	3	0	3	6	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:56885519G>T	ENST00000257287.4	+	23	3137	c.3013G>T	c.(3013-3015)Gtt>Ttt	p.V1005F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1005					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTCACGTAGGTTGTGGTGGA	0.318																																																	0													43	42	42					4																	56885519		2202	4300	6502	SO:0001630	splice_region_variant	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3013-1G>T	4.37:g.56885519G>T			B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_EB1_C	p.V1005F	ENST00000257287.4	37	c.3013	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411281	0.25465	.	.	ENSG00000174799	ENST00000257287	T	0.14640	2.49	4.96	4.12	0.48240	.	0.336506	0.30410	N	0.009700	T	0.16981	0.0408	L	0.42245	1.32	0.43734	D	0.996228	P	0.35433	0.501	P	0.46076	0.503	T	0.05920	-1.0856	9	.	.	.	.	8.3265	0.32160	0.2387:0.0:0.7613:0.0	.	1005	Q66GS9	CP135_HUMAN	F	1005	ENSP00000257287:V1005F	.	V	+	1	0	CEP135	56580276	1.000000	0.71417	0.864000	0.33941	0.065000	0.16274	3.230000	0.51286	1.235000	0.43724	0.650000	0.86243	GTT	CEP135	-	NULL	ENSG00000174799		0.318	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2		0	22	0	G	NM_025009	Missense_Mutation	56885519	1			no_errors	ENST00000257287	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.972	T	T	56885519	G	T	56885519	5	4	34	1	0	0	0	0	0	0	1	0	3254	1275	44	3	3099	3	CEP135	4	56885519	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	125763	56885519	134268757	111	8084											
WDFY3	23001	genome.wustl.edu	37	chr4	85715781	85715781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagaatttgctcggcgCacaacagtaagaagtctgac	14	8	10	9	2	2	4	1	1	1	3	3	4	2	4	0	1	2	3	0	1	5	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:85715781C>T	ENST00000295888.4	-	21	3785	c.3378G>A	c.(3376-3378)gtG>gtA	p.V1126V	WDFY3_ENST00000322366.6_Silent_p.V1126V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1126					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCTCGGCGCACAACAGTAA	0.448																																																	0													131	132	131					4																	85715781		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3378G>A	4.37:g.85715781C>T			Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1126	ENST00000295888.4	37	c.3378	CCDS3609.1	4																																																																																			WDFY3	-	superfamily_ConA-like_lec_gl_sf	ENSG00000163625		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	16	0	C	NM_014991		85715781	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	silent	16.25	67	13	SNP	0.312	T	T	85715781	C	T	85715781	2	4	34	1	0	0	0	0	0	0	0	1	17319	697	25	3		3	WDFY3	4	85715781	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	28830262	85715781	105438495	112	8085											
RAP1GDS1	5910	genome.wustl.edu	37	chr4	99341172	99341172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctctctttttctccagttAtaaataaagcaaagatgtta	13	16	5	7	0	3	1	0	0	3	1	5	1	3	1	1	0	1	3	1	0	7	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:99341172A>G	ENST00000408927.3	+	11	1290	c.1177A>G	c.(1177-1179)Ata>Gta	p.I393V	RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.I345V|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.I302V|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.I344V|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I394V|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I394V	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	393					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTCTCCAGTTATAAATAAAGC	0.333			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0													97	100	99					4																	99341172		1808	4072	5880	SO:0001583	missense	0				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1177A>G	4.37:g.99341172A>G	ENSP00000386153:p.Ile393Val		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.I394V	ENST00000408927.3	37	c.1180	CCDS43253.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.981|3.981	-0.006449|-0.006449	0.07773|0.07773	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360|ENST00000509501	T;T;T;T;T;T|.	0.46451|.	0.87;1.64;0.87;0.87;0.87;0.87|.	5.61|5.61	3.83|3.83	0.44106|0.44106	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.063129|.	0.64402|.	N|.	0.000007|.	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.04508|0.04508	-0.205|-0.205	0.31994|0.31994	N|N	0.604213|0.604213	B;B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B|.	0.04013|.	0.0;0.001;0.0;0.0;0.0;0.0|.	T|T	0.26916|0.26916	-1.0089|-1.0089	10|5	0.25106|.	T|.	0.35|.	-5.7215|-5.7215	10.2158|10.2158	0.43168|0.43168	0.1671:0.0:0.8329:0.0|0.1671:0.0:0.8329:0.0	.|.	302;344;345;393;394;394|.	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9|.	.;.;.;GDS1_HUMAN;.;.|.	V|C	345;302;393;394;344;394|202	ENSP00000369503:I345V;ENSP00000264572:I302V;ENSP00000386153:I393V;ENSP00000407157:I394V;ENSP00000386223:I344V;ENSP00000340454:I394V|.	ENSP00000264572:I302V|.	I|Y	+|+	1|2	0|0	RAP1GDS1|RAP1GDS1	99560195|99560195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	5.297000|5.297000	0.65704|0.65704	0.679000|0.679000	0.31345|0.31345	0.533000|0.533000	0.62120|0.62120	ATA|TAT	RAP1GDS1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000138698		0.333	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	-	0	33	0	A	NM_001100426		99341172	1	tier1	-	no_errors	ENST00000339360	ensembl	human	known	74_37	missense	30.77	54	24	SNP	1.000	G	G	99341172	A	G	99341172	3	3	34	1	0	0	0	0	1	0	0	0	13084	449	16	4	1222	4	RAP1GDS1	4	99341172	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	13625391	99341172	91813104	113	8086											
LRIT3	345193	genome.wustl.edu	37	chr4	110791309	110791309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagccagcacaagtaaGaaagaagagctggcattgtt	14	7	10	10	0	0	3	0	0	0	3	1	3	1	3	3	1	3	5	3	1	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:110791309G>A	ENST00000594814.1	+	4	1404	c.1404G>A	c.(1402-1404)aaG>aaA	p.K468K	LRIT3_ENST00000379920.3_Silent_p.K423K|LRIT3_ENST00000327908.3_Silent_p.K285K|LRIT3_ENST00000409621.2_Silent_p.K285K	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	468					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCACAAGTAAGAAAGAAGAGC	0.458																																																	0													67	68	68					4																	110791309		2203	4300	6503	SO:0001819	synonymous_variant	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1404G>A	4.37:g.110791309G>A			C9J1C2|Q6ZTG1	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K468	ENST00000594814.1	37	c.1404	CCDS3688.3	4																																																																																			LRIT3	-	NULL	ENSG00000183423		0.458	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	-	0	17	0	G	NM_198506		110791309	1	tier1	-	no_errors	ENST00000594814	ensembl	human	known	74_37	silent	19.64	45	11	SNP	1.000	A	A	110791309	G	A	110791309	2	1	34	1	0	0	0	0	0	0	0	1	8984	933	33	3		3	LRIT3	4	110791309	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	11450137	110791309	80362967	114	8087											
PRDM5	11107	genome.wustl.edu	37	chr4	121737722	121737722	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcaagtctcctggtgctGctcaaaactacaagacaacc	12	7	8	14	1	2	1	1	0	1	1	3	1	2	1	3	2	5	3	3	2	6	1	rs371288295		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:121737722G>A	ENST00000264808.3	-	7	991	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	PRDM5_ENST00000515109.1_Nonsense_Mutation_p.Q220*|PRDM5_ENST00000428209.2_Nonsense_Mutation_p.Q220*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	251					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q251*(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCTGGTGCTGCTCAAAACTA	0.488																																																	1	Substitution - Nonsense(1)	lung(1)						G	stop/GLN	0,4406		0,0,2203	47	44	45		751	6	1	4		45	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PRDM5	NM_018699.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		251/631	121737722	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.751C>T	4.37:g.121737722G>A	ENSP00000264808:p.Gln251*		Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.Q251*	ENST00000264808.3	37	c.751	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.391259	0.95988	0.0	1.16E-4	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	.	.	.	5.98	5.98	0.97165	.	0.101909	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-29.4105	20.4434	0.99119	0.0:0.0:1.0:0.0	.	.	.	.	X	251;220;220	.	ENSP00000264808:Q251X	Q	-	1	0	PRDM5	121957172	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.838000	0.97847	0.655000	0.94253	CAG	PRDM5	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2	ENSG00000138738		0.488	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2		0	14	0	G			121737722	-1			no_errors	ENST00000264808	ensembl	human	known	74_37	nonsense	21.43	11	3	SNP	1.000	A	A	121737722	G	A	121737722	4	1	34	1	0	0	0	0	0	1	0	0	12502	1328	46	3	1181	3	PRDM5	4	121737722	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10946413	121737722	69416554	115	8088											
BBS12	166379	genome.wustl.edu	37	chr4	123664834	123664834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctggcaaatggatggcAgaaatacctttcaactctcc	12	11	7	11	0	2	1	1	0	1	1	4	2	3	2	3	3	2	2	3	3	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:123664834A>G	ENST00000314218.3	+	2	1980	c.1787A>G	c.(1786-1788)cAg>cGg	p.Q596R	BBS12_ENST00000542236.1_Missense_Mutation_p.Q596R	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	596					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AATGGATGGCAGAAATACCTT	0.433									Bardet-Biedl syndrome																																								0													88	84	85					4																	123664834		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1787A>G	4.37:g.123664834A>G	ENSP00000319062:p.Gln596Arg		D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.Q596R	ENST00000314218.3	37	c.1787	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	A	9.633	1.136911	0.21123	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.68479	-0.33;-0.33	5.71	1.82	0.25136	.	0.492988	0.22496	N	0.059299	T	0.38957	0.1060	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.16041	-1.0416	10	0.23302	T	0.38	-12.2257	5.7411	0.18094	0.6887:0.0:0.1965:0.1148	.	596	Q6ZW61	BBS12_HUMAN	R	596	ENSP00000319062:Q596R;ENSP00000438273:Q596R	ENSP00000319062:Q596R	Q	+	2	0	BBS12	123884284	0.141000	0.22595	0.104000	0.21259	0.972000	0.66771	0.668000	0.25127	0.085000	0.17107	0.482000	0.46254	CAG	BBS12	-	superfamily_Cpn60/TCP-1	ENSG00000181004		0.433	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1		0	11	0	A	NM_152618		123664834	1			no_errors	ENST00000314218	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.038	G	G	123664834	A	G	123664834	3	3	34	1	0	0	0	0	1	0	0	0	1338	188	7	4	1789	4	BBS12	4	123664834	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	1927112	123664834	67489442	116	8089											
PHF17	79960	genome.wustl.edu	37	chr4	129767562	129767562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgatcactgccatgaaGttgcatgactcctaccagct	10	10	8	13	0	1	3	1	3	0	0	2	4	2	3	4	0	4	3	4	0	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr4:129767562G>T	ENST00000226319.6	+	4	451	c.171G>T	c.(169-171)aaG>aaT	p.K57N	PHF17_ENST00000452328.2_Missense_Mutation_p.K57N|PHF17_ENST00000512960.1_Missense_Mutation_p.K57N|PHF17_ENST00000511647.1_Missense_Mutation_p.K57N|PHF17_ENST00000413543.2_Missense_Mutation_p.K57N	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGCCATGAAGTTGCATGACT	0.507																																																	0													195	178	184					4																	129767562		2203	4300	6503	SO:0001583	missense	0																														ENST00000226319.6:c.171G>T	4.37:g.129767562G>T	ENSP00000226319:p.Lys57Asn			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K57N	ENST00000226319.6	37	c.171	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615817	0.66672	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.68	3.84	0.44239	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.65668	-0.6112	9	.	.	.	.	7.8757	0.29592	0.2466:0.0:0.7534:0.0	.	57;57;57	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	N	57	ENSP00000226319:K57N;ENSP00000423737:K57N;ENSP00000388015:K57N;ENSP00000426590:K57N;ENSP00000425730:K57N;ENSP00000422445:K57N;ENSP00000421265:K57N;ENSP00000404211:K57N;ENSP00000424280:K57N;ENSP00000425535:K57N	.	K	+	3	2	PHF17	129987012	1.000000	0.71417	0.923000	0.36655	0.990000	0.78478	3.246000	0.51414	1.186000	0.42985	0.561000	0.74099	AAG	PHF17	-	pfam_Enhancer_polycomb-like_N	ENSG00000077684		0.507	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	-	0	36	0	G			129767562	1	tier1	-	no_errors	ENST00000226319	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.909	T	T	129767562	G	T	129767562	3	4	34	1	0	0	0	0	1	0	0	0	11867	1020	36	3	181	3	PHF17	4	129767562	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6102728	129767562	61386714	117	8090											
CDH12	1010	genome.wustl.edu	37	chr5	21755816	21755816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcagagtcacatctaCagactcgaatagtcattgtg	12	11	8	10	1	4	2	3	0	1	2	5	3	4	2	1	0	2	0	1	0	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:21755816C>A	ENST00000382254.1	-	14	2855	c.1769G>T	c.(1768-1770)tGt>tTt	p.C590F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.C550F|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.C590F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	590	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C590F(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCACATCTACAGACTCGAAT	0.463										HNSCC(59;0.17)																																							1	Substitution - Missense(1)	large_intestine(1)											188	153	165					5																	21755816		2203	4300	6503	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1769G>T	5.37:g.21755816C>A	ENSP00000371689:p.Cys590Phe		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C590F	ENST00000382254.1	37	c.1769	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440626	0.83993	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.53423	0.62;0.62;0.62	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.80768	0.4686	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.996	D	0.87094	0.2174	10	0.87932	D	0	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	550;590	B7Z2U6;P55289	.;CAD12_HUMAN	F	590;590;550	ENSP00000423577:C590F;ENSP00000371689:C590F;ENSP00000428786:C550F	ENSP00000371689:C590F	C	-	2	0	CDH12	21791573	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.471000	0.80985	2.619000	0.88677	0.460000	0.39030	TGT	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1		0	21	0	C	NM_004061		21755816	-1			no_errors	ENST00000382254	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	21755816	C	A	21755816	3	1	34	1	0	0	0	0	1	0	0	0	3105	478	17	3	623	3	CDH12	5	21755816	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09		21755816	159159444	118	8091											
PDZD2	23037	genome.wustl.edu	37	chr5	31983752	31983752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttccaatcgagtgactGcctggcacgggtaaggtttg	8	10	14	9	2	0	1	0	1	0	0	2	3	1	2	2	4	1	3	2	4	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:31983752G>T	ENST00000438447.1	+	3	1356	c.968G>T	c.(967-969)tGc>tTc	p.C323F	PDZD2_ENST00000282493.3_Missense_Mutation_p.C323F			O15018	PDZD2_HUMAN	PDZ domain containing 2	323					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCGAGTGACTGCCTGGCACGG	0.463																																																	0													86	90	88					5																	31983752		2200	4300	6500	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.968G>T	5.37:g.31983752G>T	ENSP00000402033:p.Cys323Phe		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.C323F	ENST00000438447.1	37	c.968	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664131	0.47572	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06608	3.28;3.28	5.68	3.64	0.41730	PDZ/DHR/GLGF (1);	0.132632	0.35466	N	0.003192	T	0.06781	0.0173	L	0.27053	0.805	0.31472	N	0.668232	P;D	0.61080	0.93;0.989	P;P	0.55087	0.564;0.768	T	0.10847	-1.0612	10	0.10377	T	0.69	.	4.8656	0.13607	0.1325:0.2213:0.6462:0.0	.	149;323	B4E3P2;O15018	.;PDZD2_HUMAN	F	323	ENSP00000402033:C323F;ENSP00000282493:C323F	ENSP00000282493:C323F	C	+	2	0	PDZD2	32019509	0.998000	0.40836	1.000000	0.80357	0.359000	0.29487	1.750000	0.38329	1.380000	0.46344	0.650000	0.86243	TGC	PDZD2	-	superfamily_PDZ	ENSG00000133401		0.463	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0	20	0	G			31983752	1			no_errors	ENST00000282493	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	31983752	G	T	31983752	3	4	34	1	0	0	0	0	1	0	0	0	11740	1319	46	3	974	3	PDZD2	5	31983752	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10227936	31983752	148931508	119	8092											
TTC23L	153657	genome.wustl.edu	37	chr5	34867123	34867123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacgaggaagctgctcaGatagagcagctgaggaggaa	13	6	15	7	1	1	3	1	1	0	2	1	7	1	6	0	3	5	5	0	3	4	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:34867123G>T	ENST00000505624.1	+	7	892	c.789G>T	c.(787-789)caG>caT	p.Q263H	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	263								p.Q263Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AAGCTGCTCAGATAGAGCAGC	0.547																																																	1	Substitution - coding silent(1)	urinary_tract(1)											43	46	45					5																	34867123		1980	4159	6139	SO:0001583	missense	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.789G>T	5.37:g.34867123G>T	ENSP00000422188:p.Gln263His		Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.Q263H	ENST00000505624.1	37	c.789	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654517	0.29425	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.74421	-0.84	5.28	3.5	0.40072	Tetratricopeptide-like helical (1);	0.305409	0.33309	N	0.005048	T	0.81083	0.4749	M	0.67953	2.075	0.28529	N	0.912694	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.952;0.98;0.971	T	0.72510	-0.4271	10	0.44086	T	0.13	-21.9636	6.9477	0.24528	0.1584:0.1469:0.6946:0.0	.	263;194;263	Q6PF05-2;B4DEX1;Q6PF05	.;.;TT23L_HUMAN	H	263	ENSP00000422188:Q263H	ENSP00000425242:Q263H	Q	+	3	2	TTC23L	34902880	0.996000	0.38824	0.996000	0.52242	0.112000	0.19704	1.038000	0.30254	0.788000	0.33755	-0.176000	0.13171	CAG	TTC23L	-	NULL	ENSG00000205838		0.547	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1		0	39	0	G	NM_144725		34867123	1			no_errors	ENST00000505624	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.998	T	T	34867123	G	T	34867123	3	4	34	1	0	0	0	0	1	0	0	0	16740	933	33	3	811	3	TTC23L	5	34867123	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2883371	34867123	146048137	120	8093											
PAIP1	10605	genome.wustl.edu	37	chr5	43547975	43547975	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcctgaacatattctGatagagtaggataatcctca	17	11	6	7	0	2	3	1	2	1	1	4	4	4	4	2	1	1	1	2	1	7	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:43547975G>T	ENST00000306846.3	-	3	708	c.476C>A	c.(475-477)tCa>tAa	p.S159*	PAIP1_ENST00000338972.4_Nonsense_Mutation_p.S47*|PAIP1_ENST00000436644.2_Nonsense_Mutation_p.S80*|PAIP1_ENST00000514514.1_Nonsense_Mutation_p.S80*	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	159	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.S159*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AACATATTCTGATAGAGTAGG	0.368																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											70	69	69					5																	43547975		2203	4300	6503	SO:0001587	stop_gained	0			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.476C>A	5.37:g.43547975G>T	ENSP00000302768:p.Ser159*		A6NKV8|O60455|Q96B61|Q9BS63	Nonsense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.S159*	ENST00000306846.3	37	c.476	CCDS3947.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184817	0.78677	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000515338	.	.	.	5.59	4.69	0.59074	.	0.192138	0.44285	D	0.000477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-2.9878	16.5651	0.84577	0.0:0.13:0.87:0.0	.	.	.	.	X	159;80;47;80;47;47;47	.	ENSP00000302768:S159X	S	-	2	0	PAIP1	43583732	1.000000	0.71417	0.993000	0.49108	0.919000	0.55068	6.332000	0.72934	2.628000	0.89032	0.655000	0.94253	TCA	PAIP1	-	superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000172239		0.368	PAIP1-001	KNOWN	basic|CCDS	protein_coding	PAIP1	HGNC	protein_coding	OTTHUMT00000214024.1		0	23	0	G	NM_006451		43547975	-1			no_errors	ENST00000306846	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.996	T	T	43547975	G	T	43547975	4	4	34	1	0	0	0	0	0	1	0	0	11435	1294	45	3	999	3	PAIP1	5	43547975	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8680852	43547975	137367285	121	8094											
MAP3K1	4214	genome.wustl.edu	37	chr5	56181839	56181839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacactgaacagttactcCgtggcctttcgtatctccat	9	13	6	13	2	1	1	0	1	1	0	4	1	2	1	3	1	3	2	3	1	4	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:56181839C>T	ENST00000399503.3	+	17	4063	c.4063C>T	c.(4063-4065)Cgt>Tgt	p.R1355C		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1355	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGTTACTCCGTGGCCTTTC	0.338																																																	0													96	89	91					5																	56181839		1835	4084	5919	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4063C>T	5.37:g.56181839C>T	ENSP00000382423:p.Arg1355Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.R1355C	ENST00000399503.3	37	c.4063	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706312	0.89018	.	.	ENSG00000095015	ENST00000399503	T	0.67698	-0.28	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.78422	-0.2210	10	0.59425	D	0.04	.	19.414	0.94688	0.0:1.0:0.0:0.0	.	1355	Q13233	M3K1_HUMAN	C	1355	ENSP00000382423:R1355C	ENSP00000382423:R1355C	R	+	1	0	MAP3K1	56217596	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.681000	0.61663	2.591000	0.87537	0.655000	0.94253	CGT	MAP3K1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000095015		0.338	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0	24	0	C	XM_042066		56181839	1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	23.44	49	15	SNP	1.000	T	T	56181839	C	T	56181839	3	4	34	1	0	0	0	0	1	0	0	0	9281	652	23	1	4129	1	MAP3K1	5	56181839	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	12633864	56181839	124733421	122	8095											
MAST4	375449	genome.wustl.edu	37	chr5	66430447	66430447	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggggattatcctctatGaatttctggttggatgcgtg	7	15	12	7	1	2	1	0	1	2	0	3	3	3	3	2	4	1	1	2	4	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:66430447G>T	ENST00000403625.2	+	18	2618	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	MAST4_ENST00000403666.1_Nonsense_Mutation_p.E586*|MAST4_ENST00000404260.3_Nonsense_Mutation_p.E778*|MAST4_ENST00000261569.7_Nonsense_Mutation_p.E581*|MAST4_ENST00000405643.1_Nonsense_Mutation_p.E596*	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TATCCTCTATGAATTTCTGGT	0.468																																																	0													191	203	199					5																	66430447		1919	4155	6074	SO:0001587	stop_gained	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2323G>T	5.37:g.66430447G>T	ENSP00000385727:p.Glu775*		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.E778*	ENST00000403625.2	37	c.2332	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.907477	0.97924	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5128	19.5141	0.95155	0.0:0.0:1.0:0.0	.	.	.	.	X	778;775;586;596;596;581;581	.	ENSP00000261569:E581X	E	+	1	0	MAST4	66466203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.629000	0.89072	0.650000	0.86243	GAA	MAST4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000069020		0.468	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2		0	46	0	G			66430447	1			no_errors	ENST00000404260	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	66430447	G	T	66430447	4	4	34	1	0	0	0	0	0	1	0	0	9365	1291	45	3	2523	3	MAST4	5	66430447	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10248608	66430447	114484813	123	8096											
TRIM36	55521	genome.wustl.edu	37	chr5	114473234	114473234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaattgctttcaaaacaGatgatttcctctcttccaga	12	14	5	10	0	3	3	2	1	1	2	6	3	5	3	2	0	2	1	2	0	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:114473234G>T	ENST00000282369.3	-	6	1068	c.947C>A	c.(946-948)tCt>tAt	p.S316Y	TRIM36_ENST00000514154.1_Missense_Mutation_p.S161Y|TRIM36_ENST00000513154.1_Missense_Mutation_p.S304Y	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	316					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S316C(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTTCAAAACAGATGATTTCCT	0.368																																																	1	Substitution - Missense(1)	breast(1)											130	138	135					5																	114473234		2202	4299	6501	SO:0001583	missense	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.947C>A	5.37:g.114473234G>T	ENSP00000282369:p.Ser316Tyr		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S316Y	ENST00000282369.3	37	c.947	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930450	0.52866	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.65732	0.52;0.63;-0.17	5.53	4.66	0.58398	.	0.477328	0.25581	N	0.029697	T	0.54224	0.1845	L	0.40543	1.245	0.80722	D	1	B;P	0.44659	0.346;0.84	B;P	0.45232	0.068;0.474	T	0.48514	-0.9029	10	0.23302	T	0.38	.	9.8361	0.40971	0.0728:0.1409:0.7863:0.0	.	304;316	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Y	316;304;161	ENSP00000282369:S316Y;ENSP00000423934:S304Y;ENSP00000424259:S161Y	ENSP00000282369:S316Y	S	-	2	0	TRIM36	114501133	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.017000	0.49615	1.307000	0.44944	0.579000	0.79373	TCT	TRIM36	-	NULL	ENSG00000152503		0.368	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2		0	11	0	G	NM_018700		114473234	-1			no_errors	ENST00000282369	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	114473234	G	T	114473234	3	4	34	1	0	0	0	0	1	0	0	0	16558	942	33	3	1259	3	TRIM36	5	114473234	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	48042787	114473234	66442026	124	8097											
DMXL1	1657	genome.wustl.edu	37	chr5	118469070	118469070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagcctggtatgtttcGtcaagtacaggtactactgt	10	13	9	9	1	1	0	1	0	0	0	2	0	1	0	2	2	5	4	2	2	6	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:118469070G>A	ENST00000311085.8	+	11	1639	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R520H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	520								p.R520H(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGTATGTTTCGTCAAGTACAG	0.358																																																	1	Substitution - Missense(1)	endometrium(1)											213	212	213					5																	118469070		2202	4300	6502	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.1559G>A	5.37:g.118469070G>A	ENSP00000309690:p.Arg520His			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R520H	ENST00000311085.8	37	c.1559	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668194	0.67814	.	.	ENSG00000172869	ENST00000503802;ENST00000311085;ENST00000539542	T;T;T	0.65549	-0.16;-0.16;-0.16	5.57	5.57	0.84162	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	M	0.73962	2.25	0.80722	D	1	D;D	0.62365	0.991;0.968	B;B	0.42593	0.392;0.37	T	0.74503	-0.3644	10	0.87932	D	0	-15.3527	19.5465	0.95299	0.0:0.0:1.0:0.0	.	520;520	F5H269;Q9Y485	.;DMXL1_HUMAN	H	520	ENSP00000427692:R520H;ENSP00000309690:R520H;ENSP00000439479:R520H	ENSP00000309690:R520H	R	+	2	0	DMXL1	118496969	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.643000	0.89663	0.591000	0.81541	CGT	DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.358	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1		0	11	0	G	NM_005509		118469070	1			no_errors	ENST00000539542	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	118469070	G	A	118469070	3	1	34	1	0	0	0	0	1	0	0	0	4608	1145	40	1	1601	1	DMXL1	5	118469070	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3995836	118469070	62446190	125	8098											
ALDH7A1	501	genome.wustl.edu	37	chr5	125885971	125885971	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcattattccatgcaaaGacctcttcttcattctaaaa	13	15	2	11	0	5	1	2	0	3	1	6	1	6	1	2	0	1	1	2	0	4	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:125885971G>T	ENST00000409134.3	-	15	1551	c.1332C>A	c.(1330-1332)gtC>gtA	p.V444V	ALDH7A1_ENST00000447989.2_Silent_p.V407V|ALDH7A1_ENST00000553117.1_Silent_p.V380V	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	444					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		TCCATGCAAAGACCTCTTCTT	0.378																																																	0													93	90	91					5																	125885971		2203	4300	6503	SO:0001819	synonymous_variant	0			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"Aldehyde dehydrogenases"	877	protein-coding gene	gene with protein product	"antiquitin 1", "26g turgor protein homolog", "alpha-aminoadipic semialdehyde dehydrogenase", "alpha-AASA dehydrogenase", "delta1-piperideine-6-carboxylate dehydrogenease", "P6c dehydrogenase"	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1332C>A	5.37:g.125885971G>T			B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.V444	ENST00000409134.3	37	c.1332	CCDS4137.2	5																																																																																			ALDH7A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000164904		0.378	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH7A1	HGNC	protein_coding	OTTHUMT00000250921.2		0	18	0	G	NM_001182		125885971	-1			no_errors	ENST00000409134	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	125885971	G	T	125885971	2	4	34	1	0	0	0	0	0	0	0	1	504	929	33	3		3	ALDH7A1	5	125885971	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7416901	125885971	55029289	126	8099											
PHAX	51808	genome.wustl.edu	37	chr5	125960471	125960471	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaggaaggacatgcaGaagccaagttggaggcagag	15	4	15	7	0	1	2	1	0	0	2	1	5	1	5	1	4	2	3	1	4	3	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:125960471G>T	ENST00000297540.4	+	5	1815	c.1120G>T	c.(1120-1122)Gaa>Taa	p.E374*		NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	374					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)	p.E374K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AGGACATGCAGAAGCCAAGTT	0.408																																																	1	Substitution - Missense(1)	lung(1)											103	104	104					5																	125960471		2203	4300	6503	SO:0001587	stop_gained	0			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.1120G>T	5.37:g.125960471G>T	ENSP00000297540:p.Glu374*		Q9H8W1	Nonsense_Mutation	SNP	pfam_PHAX_RNA-binding_domain	p.E374*	ENST00000297540.4	37	c.1120	CCDS4138.1	5	.	.	.	.	.	.	.	.	.	.	G	44	10.715656	0.99455	.	.	ENSG00000164902	ENST00000297540	.	.	.	5.62	5.62	0.85841	.	0.056196	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.8201	19.6676	0.95898	0.0:0.0:1.0:0.0	.	.	.	.	X	374	.	ENSP00000297540:E374X	E	+	1	0	PHAX	125988370	1.000000	0.71417	0.613000	0.29037	0.910000	0.53928	8.796000	0.91877	2.656000	0.90262	0.563000	0.77884	GAA	PHAX	-	NULL	ENSG00000164902		0.408	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHAX	HGNC	protein_coding	OTTHUMT00000250924.1		0	8	0	G	NM_032177		125960471	1			no_errors	ENST00000297540	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	0.981	T	T	125960471	G	T	125960471	4	4	34	1	0	0	0	0	0	1	0	0	11852	943	33	3	1138	3	PHAX	5	125960471	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	74500	125960471	54954789	127	8100											
GNB2L1	10399	genome.wustl.edu	37	chr5	180669293	180669293	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcagagcacgctgtggAattccatagttggtctcatc	8	10	10	13	2	1	1	1	0	1	1	4	2	2	2	3	2	1	4	3	2	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr5:180669293A>C	ENST00000512805.1	-	2	570	c.162T>G	c.(160-162)atT>atG	p.I54M	GNB2L1_ENST00000511566.1_Missense_Mutation_p.I54M|GNB2L1_ENST00000456394.2_Missense_Mutation_p.I54M|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000376817.4_Intron|SNORD95_ENST00000579879.1_RNA|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511900.1_Missense_Mutation_p.I54M	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	54					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CACGCTGTGGAATTCCATAGT	0.512																																																	0													98	84	89					5																	180669293		2203	4300	6503	SO:0001583	missense	0			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"WD repeat domain containing"	4399	protein-coding gene	gene with protein product	"Receptor for Activated C Kinase 1"	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.162T>G	5.37:g.180669293A>C	ENSP00000426909:p.Ile54Met		B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I54M	ENST00000512805.1	37	c.162	CCDS34324.1	5	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060927	0.36373	.	.	ENSG00000204628	ENST00000511566;ENST00000512805;ENST00000511900;ENST00000512968;ENST00000510199;ENST00000502844;ENST00000507000;ENST00000503081;ENST00000513027;ENST00000456394	T;T;T;T;T;T;T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47;-1.47	5.56	2.71	0.32032	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.254675	0.43260	D	0.000599	T	0.79493	0.4455	N	0.20807	0.61	0.52099	D	0.999943	B;B;B;B	0.30634	0.029;0.202;0.288;0.071	B;P;P;B	0.56865	0.315;0.705;0.808;0.222	T	0.74475	-0.3653	10	0.59425	D	0.04	-11.1018	3.7713	0.08643	0.2755:0.0:0.5473:0.1772	.	54;25;102;54	E9PD14;B4DVD2;D6R9L0;P63244	.;.;.;GBLP_HUMAN	M	54;54;54;54;102;40;13;54;94;54	ENSP00000426101:I54M;ENSP00000426909:I54M;ENSP00000422768:I54M;ENSP00000425008:I54M;ENSP00000423569:I102M;ENSP00000422029:I40M;ENSP00000421416:I13M;ENSP00000424237:I54M;ENSP00000421356:I94M;ENSP00000394470:I54M	ENSP00000394470:I54M	I	-	3	3	GNB2L1	180601899	1.000000	0.71417	0.990000	0.47175	0.181000	0.23173	1.591000	0.36665	0.255000	0.21593	-0.242000	0.12053	ATT	GNB2L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000204628		0.512	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2	-	0	13	0	A	NM_006098		180669293	-1	tier1	-	no_errors	ENST00000512805	ensembl	human	known	74_37	missense	57.14	12	16	SNP	1.000	C	C	180669293	A	C	180669293	3	2	34	1	0	0	0	0	1	0	0	0	6544	242	9	4	819	4	GNB2L1	5	180669293	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	54708822	180669293	245967	128	8101											
MBOAT1	154141	genome.wustl.edu	37	chr6	20152953	20152953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacgtaagtagatgcgaaaCcagaaagcagcaaacagagc	18	3	12	8	2	0	3	0	0	0	3	0	5	0	4	1	1	6	4	1	1	5	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:20152953C>G	ENST00000324607.7	-	2	311	c.147G>C	c.(145-147)tgG>tgC	p.W49C	MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Missense_Mutation_p.W49C	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	49					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGATGCGAAACCAGAAAGCAG	0.448																																																	0													93	91	92					6																	20152953		2203	4300	6503	SO:0001583	missense	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.147G>C	6.37:g.20152953C>G	ENSP00000324944:p.Trp49Cys		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	pfam_MBOAT_fam	p.W49C	ENST00000324607.7	37	c.147	CCDS34346.1	6	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675910	0.67928	.	.	ENSG00000172197	ENST00000324607;ENST00000536798	T;T	0.23552	2.74;1.9	5.37	5.37	0.77165	.	0.111433	0.64402	D	0.000003	T	0.25938	0.0632	M	0.84846	2.72	0.80722	D	1	P	0.38992	0.653	B	0.34652	0.187	T	0.25606	-1.0127	10	0.56958	D	0.05	-9.0E-4	18.2467	0.89988	0.0:1.0:0.0:0.0	.	49	Q6ZNC8	MBOA1_HUMAN	C	49	ENSP00000324944:W49C;ENSP00000439814:W49C	ENSP00000324944:W49C	W	-	3	0	MBOAT1	20260932	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.540000	0.60664	2.677000	0.91161	0.655000	0.94253	TGG	MBOAT1	-	NULL	ENSG00000172197		0.448	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	-	0	38	0	C			20152953	-1	tier1	-	no_errors	ENST00000324607	ensembl	human	known	74_37	missense	77.55	11	38	SNP	1.000	G	G	20152953	C	G	20152953	3	3	34	1	0	0	0	0	1	0	0	0	9394	508	18	5	1388	5	MBOAT1	6	20152953	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09		20152953	150962114	129	8102											
HIST1H4I	8294	genome.wustl.edu	37	chr6	27107279	27107279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgaaggtgttcctggaGaacgtgatccgggacgccgt	7	10	16	8	4	0	3	0	2	0	1	2	5	2	4	3	3	1	2	3	3	2	2	rs150377743	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:27107279G>T	ENST00000354348.2	+	1	204	c.192G>T	c.(190-192)gaG>gaT	p.E64D	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E64E(1)		lung(1)	1						TGTTCCTGGAGAACGTGATCC	0.657			T	BCL6	NHL																																			Dom	yes		6	6p21.3	8294	"histone 1, H4i (H4FM)"		L	1	Substitution - coding silent(1)	lung(1)											80	74	76					6																	27107279		2203	4300	6503	SO:0001583	missense	0			AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"Histones / Replication-dependent"	4793	protein-coding gene	gene with protein product		602833	"H4 histone family, member M", "histone 1, H4i"	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.192G>T	6.37:g.27107279G>T	ENSP00000346316:p.Glu64Asp		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.E64D	ENST00000354348.2	37	c.192	CCDS4620.1	6	.	.	.	.	.	.	.	.	.	.	.	19.85	3.903830	0.72754	.	.	ENSG00000198339	ENST00000354348	T	0.70986	-0.53	3.8	1.98	0.26296	.	0.000000	0.41294	U	0.000917	T	0.76506	0.3997	M	0.91090	3.175	0.41128	D	0.985867	.	.	.	.	.	.	T	0.77723	-0.2481	8	0.62326	D	0.03	.	8.2253	0.31564	0.2102:0.0:0.7898:0.0	.	.	.	.	D	64	ENSP00000346316:E64D	ENSP00000346316:E64D	E	+	3	2	HIST1H4I	27215258	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.112000	0.57845	0.361000	0.24292	0.655000	0.94253	GAG	HIST1H4I	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198339		0.657	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4I	HGNC	protein_coding	OTTHUMT00000040139.1		0	86	0	G	NM_003495		27107279	1			no_errors	ENST00000354348	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	27107279	G	T	27107279	3	4	34	1	0	0	0	0	1	0	0	0	7200	933	33	3	194	3	HIST1H4I	6	27107279	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6954326	27107279	144007788	130	8103											
MDC1	9656	genome.wustl.edu	37	chr6	30671202	30671202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgtctcttactttggggGctgttgattcttggttaagt	4	20	11	6	0	2	1	0	1	2	0	3	1	2	1	0	3	1	3	0	3	2	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:30671202G>T	ENST00000376406.3	-	11	6322	c.5675C>A	c.(5674-5676)gCc>gAc	p.A1892D	MDC1_ENST00000376405.2_Missense_Mutation_p.A1628D|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1892	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TACTTTGGGGGCTGTTGATTC	0.527								Other conserved DNA damage response genes																																									0													211	226	220					6																	30671202		1511	2709	4220	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5675C>A	6.37:g.30671202G>T	ENSP00000365588:p.Ala1892Asp		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.A1892D	ENST00000376406.3	37	c.5675	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317728	0.81469	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02737	4.26;4.18	5.16	-0.0934	0.13649	BRCT (2);	0.868389	0.09584	N	0.782382	T	0.02119	0.0066	L	0.47716	1.5	0.09310	N	1	D;P	0.69078	0.997;0.953	P;P	0.59643	0.861;0.732	T	0.44236	-0.9341	10	0.32370	T	0.25	-2.54	3.9881	0.09525	0.352:0.0:0.4928:0.1553	.	1892;869	Q14676;Q14676-4	MDC1_HUMAN;.	D	1892;1628;1605;1458	ENSP00000365588:A1892D;ENSP00000365587:A1628D	ENSP00000365587:A1628D	A	-	2	0	MDC1	30779181	0.837000	0.29446	0.325000	0.25375	0.706000	0.40770	1.057000	0.30492	0.035000	0.15519	-0.300000	0.09419	GCC	MDC1	-	pfscan_BRCT_dom	ENSG00000137337		0.527	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	51	0	G	NM_014641		30671202	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.018	T	T	30671202	G	T	30671202	3	4	34	1	0	0	0	0	1	0	0	0	9441	1203	42	3	614	3	MDC1	6	30671202	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3563923	30671202	140443865	131	8104											
VARS	7407	genome.wustl.edu	37	chr6	31760768	31760768	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggtgactcacgtatcGgaaaggcagcagcaaggctg	10	6	15	10	2	1	1	1	1	0	0	2	2	1	2	1	5	2	5	1	5	3	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:31760768G>T	ENST00000375663.3	-	3	957	c.517C>A	c.(517-519)Cga>Aga	p.R173R	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	173	GST C-terminal.				gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCACGTATCGGAAAGGCAGC	0.592																																																	0													45	49	48					6																	31760768		1511	2709	4220	SO:0001819	synonymous_variant	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.517C>A	6.37:g.31760768G>T			B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.R173	ENST00000375663.3	37	c.517	CCDS34412.1	6																																																																																			VARS	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000204394		0.592	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2		0	97	0	G	NM_006295		31760768	-1			no_errors	ENST00000375663	ensembl	human	known	74_37	silent	5.88	48	3	SNP	1.000	T	T	31760768	G	T	31760768	2	4	34	1	0	0	0	0	0	0	0	1	17172	1124	39	2		2	VARS	6	31760768	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1089566	31760768	139354299	132	8105											
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713693	32713693	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgagcaatgggcacTcagtcacagaaggtgtttct	9	10	12	10	0	3	2	2	1	1	1	3	2	3	2	1	3	1	4	1	3	2	1	rs146057838	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:32713693T>G	ENST00000374940.3	+	3	559	c.457T>G	c.(457-459)Tca>Gca	p.S153A		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	153	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	CAATGGGCACTCAGTCACAGA	0.502																																																	0													277	247	258					6																	32713693		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.457T>G	6.37:g.32713693T>G	ENSP00000364076:p.Ser153Ala		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S153A	ENST00000374940.3	37	c.457	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	0.715	-0.785730	0.02907	.	.	ENSG00000237541	ENST00000374940	T	0.02812	4.15	3.06	-6.13	0.02118	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	1.691850	0.03259	N	0.182904	T	0.00724	0.0024	L	0.39633	1.23	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.45644	-0.9247	10	0.44086	T	0.13	.	2.0631	0.03596	0.2583:0.4151:0.1313:0.1954	.	153	P01906	DQA2_HUMAN	A	153	ENSP00000364076:S153A	ENSP00000364076:S153A	S	+	1	0	HLA-DQA2	32821671	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-1.495000	0.02294	-1.445000	0.01948	0.147000	0.16070	TCA	HLA-DQA2	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000237541		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0	49	0	T	NM_020056		32713693	1	tier1	rs146057838	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	13.51	95	15	SNP	0.000	G	G	32713693	T	G	32713693	3	3	34	1	0	0	0	0	1	0	0	0	7232	1551	54	4	467	4	HLA-DQA2	6	32713693	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	952925	32713693	138401374	133	8106											
BTBD9	114781	genome.wustl.edu	37	chr6	38560574	38560574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taggaaaatatctttttcggGagctgcaaatgagtctctta	12	14	9	6	1	2	1	0	1	2	0	4	3	2	3	0	2	2	2	0	2	6	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:38560574G>T	ENST00000481247.1	-	4	743	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	BTBD9_ENST00000403056.1_Missense_Mutation_p.P198T|BTBD9_ENST00000314100.6_Missense_Mutation_p.P130T|BTBD9_ENST00000408958.1_Missense_Mutation_p.P130T|BTBD9_ENST00000419706.2_Missense_Mutation_p.P139T	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	198	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						TCTTTTTCGGGAGCTGCAAAT	0.383																																																	0													88	82	84					6																	38560574		1870	4094	5964	SO:0001583	missense	0				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"BTB/POZ domain containing"	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.592C>A	6.37:g.38560574G>T	ENSP00000418751:p.Pro198Thr		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.P198T	ENST00000481247.1	37	c.592	CCDS47418.1	6	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688334	0.48097	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.282279	0.39834	N	0.001245	T	0.46112	0.1376	N	0.25286	0.73	0.58432	D	0.999995	B;B	0.22983	0.078;0.009	B;B	0.25759	0.063;0.013	T	0.44982	-0.9292	10	0.52906	T	0.07	.	19.7609	0.96316	0.0:0.0:1.0:0.0	.	139;198	Q494V9;Q96Q07	.;BTBD9_HUMAN	T	130;198;139;198;130	ENSP00000323408:P130T;ENSP00000418751:P198T;ENSP00000415365:P139T;ENSP00000386121:P198T;ENSP00000386211:P130T	ENSP00000323408:P130T	P	-	1	0	BTBD9	38668552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.081000	0.71309	2.741000	0.93983	0.563000	0.77884	CCC	BTBD9	-	pfam_BACK,smart_BACK	ENSG00000183826		0.383	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	HGNC	protein_coding	OTTHUMT00000040433.2		0	20	0	G	NM_152733		38560574	-1			no_errors	ENST00000403056	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	38560574	G	T	38560574	3	4	34	1	0	0	0	0	1	0	0	0	1552	1174	41	3	1369	3	BTBD9	6	38560574	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5846881	38560574	132554493	134	8107											
C6orf226	441150	genome.wustl.edu	37	chr6	42858442	42858442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggagttcctggccctgctGgaccagctgcaggagctgcg	5	7	16	13	2	0	0	0	0	0	0	1	3	1	3	3	4	5	5	3	4	0	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:42858442G>T	ENST00000408925.2	-	1	112	c.85C>A	c.(85-87)Cag>Aag	p.Q29K		NM_001008739.1	NP_001008739.1	Q5I0X4	CF226_HUMAN	chromosome 6 open reading frame 226	29										lung(2)	2						TGGCCCTGCTGGACCAGCTGC	0.706																																																	0													30	38	35					6																	42858442		1958	4142	6100	SO:0001583	missense	0			BC051007, BC060325	CCDS43463.1	6p21.1	2009-02-11			ENSG00000221821	ENSG00000221821			34431	protein-coding gene	gene with protein product							Standard	NM_001008739		Approved	LOC441150	uc003osw.3	Q5I0X4	OTTHUMG00000156926	ENST00000408925.2:c.85C>A	6.37:g.42858442G>T	ENSP00000386146:p.Gln29Lys			Missense_Mutation	SNP	NULL	p.Q29K	ENST00000408925.2	37	c.85	CCDS43463.1	6	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491155	0.26774	.	.	ENSG00000221821	ENST00000408925	.	.	.	5.15	5.15	0.70609	.	0.000000	0.56097	D	0.000023	T	0.49115	0.1538	N	0.24115	0.695	0.34893	D	0.745719	D	0.67145	0.996	D	0.83275	0.996	T	0.53322	-0.8455	9	0.45353	T	0.12	-28.7794	13.9874	0.64343	0.0:0.0:1.0:0.0	.	29	Q5I0X4	CF226_HUMAN	K	29	.	ENSP00000386146:Q29K	Q	-	1	0	C6orf226	42966420	0.991000	0.36638	0.979000	0.43373	0.194000	0.23727	2.581000	0.46077	2.677000	0.91161	0.561000	0.74099	CAG	C6orf226	-	NULL	ENSG00000221821		0.706	C6orf226-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C6orf226	HGNC	protein_coding	OTTHUMT00000346635.1	-	0	49	0	G	NM_001008739		42858442	-1	tier1	-	no_errors	ENST00000408925	ensembl	human	novel	74_37	missense	11.11	32	4	SNP	0.984	T	T	42858442	G	T	42858442	3	4	34	1	0	0	0	0	1	0	0	0	2366	1357	47	3	224	3	C6orf226	6	42858442	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4297868	42858442	128256625	135	8108											
MUT	4594	genome.wustl.edu	37	chr6	49425720	49425720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgagggttgtctgaatcaTagccacgatgtgtcgccaga	9	10	12	10	3	2	2	1	1	1	1	4	4	2	2	2	1	1	1	2	1	2	2	rs528689712		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:49425720T>C	ENST00000274813.3	-	3	564	c.437A>G	c.(436-438)tAt>tGt	p.Y146C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	146					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCTGAATCATAGCCACGATG	0.398													T|||	1	0.000199681	0	0	5008	,	,		18993	0.001		0	False		,,,				2504	0																0													68	70	69					6																	49425720		2203	4300	6503	SO:0001583	missense	0				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.437A>G	6.37:g.49425720T>C	ENSP00000274813:p.Tyr146Cys		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.Y146C	ENST00000274813.3	37	c.437	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186192	0.78789	.	.	ENSG00000146085	ENST00000274813	D	0.98633	-5.04	5.55	5.55	0.83447	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99363	0.9776	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98730	1.0712	10	0.87932	D	0	-23.2559	15.1583	0.72761	0.0:0.0:0.0:1.0	.	146	P22033	MUTA_HUMAN	C	146	ENSP00000274813:Y146C	ENSP00000274813:Y146C	Y	-	2	0	MUT	49533679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.235000	0.73313	0.402000	0.26972	TAT	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat	ENSG00000146085		0.398	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	-	0	24	0	T			49425720	-1	tier1	-	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	C	C	49425720	T	C	49425720	3	2	34	1	0	0	0	0	1	0	0	0	10029	1406	49	4	1859	4	MUT	6	49425720	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	6567278	49425720	121689347	136	8109											
DST	667	genome.wustl.edu	37	chr6	56499326	56499326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacagatgggaccataGcctcattcccagtaggacta	13	7	9	12	0	1	1	1	0	0	1	2	3	2	3	3	2	2	2	3	2	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:56499326G>T	ENST00000361203.3	-	22	2802	c.2795C>A	c.(2794-2796)gCt>gAt	p.A932D	DST_ENST00000244364.6_Missense_Mutation_p.A606D|DST_ENST00000370788.2_Missense_Mutation_p.A932D|DST_ENST00000446842.2_Missense_Mutation_p.A606D|DST_ENST00000370765.6_Missense_Mutation_p.A606D|DST_ENST00000421834.2_Missense_Mutation_p.A932D|DST_ENST00000312431.6_Missense_Mutation_p.A932D|DST_ENST00000370769.4_Missense_Mutation_p.A932D|DST_ENST00000370754.5_Missense_Mutation_p.A1110D|DST_ENST00000518935.1_Missense_Mutation_p.A606D			Q03001	DYST_HUMAN	dystonin	932	SH3.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGGACCATAGCCTCATTCCC	0.413																																																	0													118	98	105					6																	56499326		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.2795C>A	6.37:g.56499326G>T	ENSP00000354508:p.Ala932Asp		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A1110D	ENST00000361203.3	37	c.3329		6	.	.	.	.	.	.	.	.	.	.	G	32	5.191480	0.94923	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.2	5.2	0.72013	.	0.000000	0.47455	D	0.000237	D	0.88418	0.6431	M	0.75264	2.295	0.37638	D	0.921943	D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.993;0.992;0.996;0.952;0.998;0.997;0.993;1.0	D	0.88349	0.2980	9	0.59425	D	0.04	.	18.9264	0.92546	0.0:0.0:1.0:0.0	.	932;932;1110;606;606;606;932;606	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	D	606;1110;932;932;606;932;932;932;606;972;606;606	ENSP00000244364:A606D;ENSP00000359790:A1110D;ENSP00000359805:A932D;ENSP00000400883:A932D;ENSP00000393645:A606D;ENSP00000307959:A932D;ENSP00000359824:A932D;ENSP00000354508:A932D;ENSP00000404924:A606D;ENSP00000431030:A972D;ENSP00000359801:A606D;ENSP00000431003:A606D	ENSP00000244364:A606D	A	-	2	0	DST	56607285	1.000000	0.71417	0.979000	0.43373	0.979000	0.70002	9.657000	0.98554	2.717000	0.92951	0.585000	0.79938	GCT	DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	17	0	G	NM_001723		56499326	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	56499326	G	T	56499326	3	4	34	1	0	0	0	0	1	0	0	0	4797	971	34	3	18630	3	DST	6	56499326	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7073606	56499326	114615741	137	8110											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62604710	62604710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacacctcgtccaggtggtgGgggaggaggaatggcacccc	9	5	16	11	1	0	0	0	0	0	0	2	3	1	3	4	7	1	1	4	7	2	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:62604710G>T	ENST00000281156.4	-	6	918	c.640C>A	c.(640-642)Cca>Aca	p.P214T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	214	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAGGTGGTGGGGGAGGAGGA	0.552																																																	0													33	36	35					6																	62604710		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.640C>A	6.37:g.62604710G>T	ENSP00000281156:p.Pro214Thr		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.P214T	ENST00000281156.4	37	c.640	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	6.929	0.541052	0.13250	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.45668	0.89	4.99	3.2	0.36748	.	0.356029	0.30043	N	0.010554	T	0.09555	0.0235	N	0.22421	0.69	0.23879	N	0.99658	B	0.31026	0.304	B	0.21151	0.033	T	0.11817	-1.0572	10	0.35671	T	0.21	-2.7479	7.1757	0.25742	0.1486:0.1414:0.71:0.0	.	214	Q5VWX1	KHDR2_HUMAN	T	214	ENSP00000281156:P214T	ENSP00000281156:P214T	P	-	1	0	KHDRBS2	62662669	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	4.903000	0.63272	0.791000	0.33826	0.655000	0.94253	CCA	KHDRBS2	-	NULL	ENSG00000112232		0.552	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0	68	0	G	NM_152688		62604710	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.908	T	T	62604710	G	T	62604710	3	4	34	1	0	0	0	0	1	0	0	0	8174	1232	43	3	425	3	KHDRBS2	6	62604710	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6105384	62604710	108510357	138	8111											
EYS	346007	genome.wustl.edu	37	chr6	66005917	66005917	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaattgtgcgaaagggccAggcagaggccatgcactgat	12	7	13	9	1	0	2	0	1	0	1	0	3	0	2	2	3	3	2	2	3	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:66005917A>C	ENST00000370621.3	-	12	2388	c.1862T>G	c.(1861-1863)cTg>cGg	p.L621R	EYS_ENST00000370616.2_Missense_Mutation_p.L621R|EYS_ENST00000503581.1_Missense_Mutation_p.L621R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	621					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L621Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CGAAAGGGCCAGGCAGAGGCC	0.433																																																	1	Substitution - Missense(1)	prostate(1)											144	112	121					6																	66005917		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1862T>G	6.37:g.66005917A>C	ENSP00000359655:p.Leu621Arg		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L621R	ENST00000370621.3	37	c.1862		6	.	.	.	.	.	.	.	.	.	.	.	14.43	2.532609	0.45073	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.81078	-1.45;-1.45;-1.45	5.48	0.241	0.15494	.	.	.	.	.	T	0.53142	0.1778	N	0.20986	0.625	0.09310	N	1	P	0.47302	0.893	P	0.51135	0.66	T	0.49399	-0.8944	9	0.21540	T	0.41	.	3.4992	0.07666	0.4284:0.0:0.1576:0.414	.	621	Q5T1H1-1	.	R	621	ENSP00000424243:L621R;ENSP00000359655:L621R;ENSP00000359650:L621R	ENSP00000359650:L621R	L	-	2	0	EYS	66062638	0.198000	0.23374	0.000000	0.03702	0.013000	0.08279	0.527000	0.22987	-0.179000	0.10654	-0.326000	0.08463	CTG	EYS	-	NULL	ENSG00000188107		0.433	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0	14	0	A	XM_294050		66005917	-1			no_errors	ENST00000370616	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	C	C	66005917	A	C	66005917	3	2	34	1	0	0	0	0	1	0	0	0	5348	188	7	4	7545	4	EYS	6	66005917	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	3401207	66005917	105109150	139	8112											
BAI3	577	genome.wustl.edu	37	chr6	70098745	70098745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgtctgaatttgcctCtggatgtgcaagagggtgac	10	11	14	6	0	2	4	0	2	2	2	2	5	2	5	1	2	2	1	1	2	3	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:70098745C>A	ENST00000370598.1	+	32	5352	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M	BAI3_ENST00000238918.8_Missense_Mutation_p.L717M|BAI3_ENST00000546190.1_Missense_Mutation_p.L475M	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1511					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1511M(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAATTTGCCTCTGGATGTGCA	0.418																																																	1	Substitution - Missense(1)	lung(1)											88	77	81					6																	70098745		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4531C>A	6.37:g.70098745C>A	ENSP00000359630:p.Leu1511Met		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L1511M	ENST00000370598.1	37	c.4531	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495560	0.44352	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.57273	1.48;2.1;0.41	5.96	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.70595	2.14	0.46113	D	0.998878	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.64351	-0.6428	10	0.72032	D	0.01	.	7.9583	0.30055	0.0:0.7069:0.0:0.2931	.	717;1511	B7Z356;O60242	.;BAI3_HUMAN	M	1511;717;475	ENSP00000359630:L1511M;ENSP00000238918:L717M;ENSP00000441821:L475M	ENSP00000238918:L717M	L	+	1	2	BAI3	70155466	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.767000	0.38501	1.535000	0.49220	0.655000	0.94253	CTG	BAI3	-	NULL	ENSG00000135298		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0	12	0	C			70098745	1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	70098745	C	A	70098745	3	1	34	1	0	0	0	0	1	0	0	0	1301	912	32	3	4649	3	BAI3	6	70098745	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	4092828	70098745	101016322	140	8113											
RIMS1	22999	genome.wustl.edu	37	chr6	72974683	72974683	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgctacgttccagacatcTtgttaggcactataaaacat	12	13	7	9	1	1	1	0	0	1	1	2	1	2	1	1	1	3	5	1	1	5	7	rs368839251		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:72974683T>G	ENST00000521978.1	+	20	3122	c.3122T>G	c.(3121-3123)cTt>cGt	p.L1041R	RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.L1041R|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517960.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1041					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCAGACATCTTGTTAGGCAC	0.383																																																	0													57	52	54					6																	72974683		1839	4092	5931	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3122T>G	6.37:g.72974683T>G	ENSP00000428417:p.Leu1041Arg		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.L1041R	ENST00000521978.1	37	c.3122	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	T	5.860	0.342778	0.11069	.	.	ENSG00000079841	ENST00000350827;ENST00000264839;ENST00000521978	T;T	0.14266	2.56;2.52	5.76	4.63	0.57726	.	0.773604	0.10922	N	0.619318	T	0.02610	0.0079	N	0.22421	0.69	0.80722	D	1	B	0.23540	0.087	B	0.23419	0.046	T	0.46317	-0.9200	10	0.11182	T	0.66	-4.5448	3.3306	0.07083	0.0:0.3309:0.0:0.6691	.	1041	Q86UR5	RIMS1_HUMAN	R	1041	ENSP00000264839:L1041R;ENSP00000428417:L1041R	ENSP00000264839:L1041R	L	+	2	0	RIMS1	73031404	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.793000	0.38764	2.199000	0.70637	0.477000	0.44152	CTT	RIMS1	-	NULL	ENSG00000079841		0.383	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	21	0	T			72974683	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	45.10	28	23	SNP	1.000	G	G	72974683	T	G	72974683	3	3	34	1	0	0	0	0	1	0	0	0	13412	1609	56	4	3363	4	RIMS1	6	72974683	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	2875938	72974683	98140384	141	8114											
DPPA5	340168	genome.wustl.edu	37	chr6	74063690	74063690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggtctgaagactccaGagccttcagctcgagcatgg	9	8	14	10	1	2	4	1	2	1	2	4	5	3	4	2	3	3	2	2	3	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:74063690G>T	ENST00000370370.3	-	2	247	c.178C>A	c.(178-180)Ctg>Atg	p.L60M		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	60	KH; atypical.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						GAAGACTCCAGAGCCTTCAGC	0.592																																																	0													63	58	60					6																	74063690		2203	4300	6503	SO:0001583	missense	0				CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.178C>A	6.37:g.74063690G>T	ENSP00000359396:p.Leu60Met		B2RPQ7	Missense_Mutation	SNP	NULL	p.L60M	ENST00000370370.3	37	c.178	CCDS34483.1	6	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369605	0.24771	.	.	ENSG00000203909	ENST00000370370	T	0.40756	1.02	3.74	2.87	0.33458	K Homology (1);	0.000000	0.38381	N	0.001705	T	0.48205	0.1487	M	0.77103	2.36	0.30831	N	0.736704	D	0.76494	0.999	D	0.87578	0.998	T	0.45011	-0.9290	10	0.72032	D	0.01	.	7.2008	0.25879	0.121:0.0:0.879:0.0	.	60	A6NC42	DPPA5_HUMAN	M	60	ENSP00000359396:L60M	ENSP00000359396:L60M	L	-	1	2	DPPA5	74120411	0.995000	0.38212	0.996000	0.52242	0.018000	0.09664	0.631000	0.24568	1.171000	0.42768	-0.339000	0.08088	CTG	DPPA5	-	NULL	ENSG00000203909		0.592	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA5	HGNC	protein_coding	OTTHUMT00000041203.3		0	151	0	G	NM_001025290		74063690	-1			no_errors	ENST00000370370	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.996	T	T	74063690	G	T	74063690	3	4	34	1	0	0	0	0	1	0	0	0	4751	933	33	3	180	3	DPPA5	6	74063690	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1089007	74063690	97051377	142	8115											
SLC17A5	26503	genome.wustl.edu	37	chr6	74304869	74304869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggcgaatagtgtaaaGaaaatggcaccaaaaacatt	17	9	8	7	1	0	1	0	0	0	1	0	2	0	1	2	2	1	2	2	2	8	4	rs374866581		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:74304869G>T	ENST00000355773.5	-	11	1687	c.1419C>A	c.(1417-1419)ttC>ttA	p.F473L		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	473					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)	p.F473L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAGTGTAAAGAAAATGGCAC	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											139	134	135					6																	74304869		2203	4300	6503	SO:0001583	missense	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"Solute carriers"	10933	protein-coding gene	gene with protein product		604322	"sialic acid storage disease", "solute carrier family 17 (anion/sugar transporter), member 5"	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1419C>A	6.37:g.74304869G>T	ENSP00000348019:p.Phe473Leu		Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F473L	ENST00000355773.5	37	c.1419	CCDS4981.1	6	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595535	0.46318	.	.	ENSG00000119899	ENST00000355773	T	0.54675	0.56	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.108678	0.64402	D	0.000005	T	0.38268	0.1034	L	0.55481	1.735	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.24048	-1.0171	10	0.40728	T	0.16	.	18.5569	0.91088	0.0:0.0:1.0:0.0	.	473	Q9NRA2	S17A5_HUMAN	L	473	ENSP00000348019:F473L	ENSP00000348019:F473L	F	-	3	2	SLC17A5	74361590	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	4.117000	0.57877	2.482000	0.83794	0.542000	0.68232	TTC	SLC17A5	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.378	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1		0	17	0	G			74304869	-1			no_errors	ENST00000355773	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	74304869	G	T	74304869	3	4	34	1	0	0	0	0	1	0	0	0	14465	933	33	3	72	3	SLC17A5	6	74304869	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	241179	74304869	96810198	143	8116											
DOPEY1	23033	genome.wustl.edu	37	chr6	83828667	83828667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcatgtagtgctaaggaggGatatgtctctgaatcgaaga	12	12	12	5	1	2	2	1	1	1	1	4	5	2	4	0	2	1	2	0	2	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:83828667G>T	ENST00000349129.2	+	8	1101	c.841G>T	c.(841-843)Gat>Tat	p.D281Y	DOPEY1_ENST00000369739.3_Missense_Mutation_p.D281Y|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D281Y	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	281					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTAAGGAGGGATATGTCTCT	0.423																																																	0													279	247	258					6																	83828667		2203	4300	6503	SO:0001583	missense	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.841G>T	6.37:g.83828667G>T	ENSP00000195654:p.Asp281Tyr		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.D281Y	ENST00000349129.2	37	c.841	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292527	0.80914	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T;T	0.61274	0.12;0.18;0.12	5.49	5.49	0.81192	Dopey, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81669	0.4871	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86605	0.1869	10	0.87932	D	0	.	19.3608	0.94436	0.0:0.0:1.0:0.0	.	281;281	B2RWN9;Q5JWR5	.;DOP1_HUMAN	Y	281	ENSP00000195654:D281Y;ENSP00000237163:D281Y;ENSP00000358754:D281Y	ENSP00000237163:D281Y	D	+	1	0	DOPEY1	83885386	1.000000	0.71417	0.996000	0.52242	0.576000	0.36127	9.476000	0.97823	2.572000	0.86782	0.650000	0.86243	GAT	DOPEY1	-	pfam_Dopey_N,superfamily_ARM-type_fold	ENSG00000083097		0.423	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0	14	0	G	NM_015018		83828667	1			no_errors	ENST00000349129	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	83828667	G	T	83828667	3	4	34	1	0	0	0	0	1	0	0	0	4721	1174	41	3	863	3	DOPEY1	6	83828667	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	9523798	83828667	87286400	144	8117											
PM20D2	135293	genome.wustl.edu	37	chr6	89859017	89859017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacccctgcagaagaagatGgtggtggcaaaattgattta	14	9	12	6	0	0	4	0	1	0	3	0	5	0	4	2	3	2	2	2	3	6	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:89859017G>T	ENST00000275072.4	+	2	594	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	167						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGAAGAAGATGGTGGTGGCAA	0.403																																																	0													152	154	153					6																	89859017		2203	4300	6503	SO:0001583	missense	0			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"&#946;-alanyl-lysine dipeptidase"	615913	"aminoacylase 1-like 2"	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.499G>T	6.37:g.89859017G>T	ENSP00000275072:p.Gly167Cys		B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred	p.G167C	ENST00000275072.4	37	c.499	CCDS34499.1	6	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826794	0.71143	.	.	ENSG00000146281	ENST00000275072	T	0.57907	0.37	5.77	5.77	0.91146	.	0.251262	0.43416	D	0.000572	T	0.78880	0.4353	H	0.95982	3.75	0.44241	D	0.997085	D	0.58970	0.984	P	0.61874	0.895	D	0.84428	0.0575	10	0.72032	D	0.01	-10.7923	19.9576	0.97228	0.0:0.0:1.0:0.0	.	167	Q8IYS1	P20D2_HUMAN	C	167	ENSP00000275072:G167C	ENSP00000275072:G167C	G	+	1	0	PM20D2	89915736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.721000	0.54941	2.884000	0.98904	0.655000	0.94253	GGT	PM20D2	-	pfam_Peptidase_M20,pirsf_Pept_M20D_amidohydro_pred	ENSG00000146281		0.403	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PM20D2	HGNC	protein_coding	OTTHUMT00000041477.1	-	0	27	0	G	NM_001010853		89859017	1	tier1	-	no_errors	ENST00000275072	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	89859017	G	T	89859017	3	4	34	1	0	0	0	0	1	0	0	0	12168	1348	47	3	505	3	PM20D2	6	89859017	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6030350	89859017	81256050	145	8118											
CCNC	892	genome.wustl.edu	37	chr6	99993014	99993014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggttttggttttggCatcttactaagaatggttgc	7	16	14	4	0	1	1	0	0	1	1	1	2	1	2	0	6	2	4	0	6	3	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:99993014C>T	ENST00000520429.1	-	11	1216	c.771G>A	c.(769-771)atG>atA	p.M257I	CCNC_ENST00000369220.4_Missense_Mutation_p.M256I|CCNC_ENST00000523985.1_Missense_Mutation_p.M172I|CCNC_ENST00000523799.1_Missense_Mutation_p.M172I|CCNC_ENST00000518714.1_Missense_Mutation_p.M257I|CCNC_ENST00000520371.1_Missense_Mutation_p.M257I	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	257					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|mediator complex (GO:0016592)|nucleoplasm (GO:0005654)							all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TTGGTTTTGGCATCTTACTAA	0.299																																					GBM(57;273 1020 40094 44454 49348)												0													178	169	172					6																	99993014		2202	4300	6502	SO:0001583	missense	0				CCDS34502.1, CCDS47461.1	6q21	2008-02-05			ENSG00000112237	ENSG00000112237			1581	protein-coding gene	gene with protein product		123838				1833066	Standard	XM_005267202		Approved	CycC	uc003pqe.3	P24863	OTTHUMG00000015268	ENST00000520429.1:c.771G>A	6.37:g.99993014C>T	ENSP00000428982:p.Met257Ile		B4DPZ1|Q9H543	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC	p.M257I	ENST00000520429.1	37	c.771	CCDS34502.1	6	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307769	0.40795	.	.	ENSG00000112237	ENST00000520429;ENST00000369220;ENST00000520371;ENST00000523799;ENST00000486428;ENST00000523985;ENST00000518714	T;T;T;T;T;T;T	0.28454	2.02;2.02;2.02;1.61;1.62;1.61;2.02	5.88	5.88	0.94601	Cyclin-like (1);	0.038098	0.85682	D	0.000000	T	0.15739	0.0379	L	0.35793	1.09	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.06023	-1.0850	9	.	.	.	-11.4171	20.2278	0.98344	0.0:1.0:0.0:0.0	.	257;257	Q7Z4L3;P24863	.;CCNC_HUMAN	I	257;256;257;172;203;172;257	ENSP00000428982:M257I;ENSP00000358222:M256I;ENSP00000430381:M257I;ENSP00000430014:M172I;ENSP00000430077:M203I;ENSP00000430119:M172I;ENSP00000430294:M257I	.	M	-	3	0	CCNC	100099735	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.814000	0.86154	2.759000	0.94783	0.650000	0.86243	ATG	CCNC	-	superfamily_Cyclin-like,pirsf_CyclinC	ENSG00000112237		0.299	CCNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCNC	HGNC	protein_coding	OTTHUMT00000041613.2		0	15	0	C	NM_005190		99993014	-1			no_errors	ENST00000520429	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	99993014	C	T	99993014	3	4	34	1	0	0	0	0	1	0	0	0	2922	710	25	3	88	3	CCNC	6	99993014	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	10133997	99993014	71122053	146	8119											
PRDM1	639	genome.wustl.edu	37	chr6	106553658	106553658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagcgatggcagccccCagcagcgacgaagccatgaa	12	3	12	14	3	1	1	1	1	0	0	1	4	1	1	3	1	6	3	3	1	2	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:106553658C>A	ENST00000369096.4	+	5	1857	c.1623C>A	c.(1621-1623)ccC>ccA	p.P541P	PRDM1_ENST00000369091.2_Silent_p.P505P|PRDM1_ENST00000369089.3_Silent_p.P407P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	541	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGGCAGCCCCCAGCAGCGACG	0.572			"D, N, Mis, F, S"		DLBCL																																			Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	0													46	49	48					6																	106553658		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1623C>A	6.37:g.106553658C>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.P541	ENST00000369096.4	37	c.1623	CCDS5054.2	6																																																																																			PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.572	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3		0	70	0	C			106553658	1			no_errors	ENST00000369096	ensembl	human	known	74_37	silent	8.00	23	2	SNP	1.000	A	A	106553658	C	A	106553658	2	1	34	1	0	0	0	0	0	0	0	1	12492	581	21	3		3	PRDM1	6	106553658	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	6560644	106553658	64561409	147	8120											
ARMC2	84071	genome.wustl.edu	37	chr6	109175567	109175567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaaatcataagtgaaGcaagaaatgcattaagaaca	20	7	9	5	0	1	4	1	1	0	3	1	4	1	4	0	0	4	3	0	0	7	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:109175567G>T	ENST00000392644.4	+	2	265	c.97G>T	c.(97-99)Gca>Tca	p.A33S	ARMC2_ENST00000368972.3_5'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	33										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CATAAGTGAAGCAAGAAATGC	0.388																																																	0													111	93	99					6																	109175567		2203	4300	6503	SO:0001583	missense	0			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.97G>T	6.37:g.109175567G>T	ENSP00000376417:p.Ala33Ser		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.A33S	ENST00000392644.4	37	c.97	CCDS5069.2	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346220	0.82022	.	.	ENSG00000118690	ENST00000392644;ENST00000237512	T;T	0.54071	0.59;0.59	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74041	-0.3792	10	0.87932	D	0	.	18.8762	0.92337	0.0:0.0:1.0:0.0	.	33	Q8NEN0	ARMC2_HUMAN	S	33	ENSP00000376417:A33S;ENSP00000237512:A33S	ENSP00000237512:A33S	A	+	1	0	ARMC2	109282260	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.280000	0.78610	2.621000	0.88768	0.563000	0.77884	GCA	ARMC2	-	NULL	ENSG00000118690		0.388	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2		0	13	0	G	NM_032131		109175567	1			no_errors	ENST00000392644	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	109175567	G	T	109175567	3	4	34	1	0	0	0	0	1	0	0	0	952	971	34	3	99	3	ARMC2	6	109175567	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2621909	109175567	61939500	148	8121											
MAN1A1	4121	genome.wustl.edu	37	chr6	119623233	119623233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccataataaaaagtgtatCcagggcatctactatagttg	14	13	7	7	0	1	0	0	0	1	0	3	0	3	0	2	1	1	3	2	1	8	8			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:119623233C>A	ENST00000368468.3	-	4	1177	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	MAN1A1_ENST00000368466.2_Missense_Mutation_p.D269Y	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	246					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAAAGTGTATCCAGGGCATCT	0.274																																					Ovarian(136;8 1825 12608 33541 47587)												0													49	51	51					6																	119623233		2201	4282	6483	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.736G>T	6.37:g.119623233C>A	ENSP00000357453:p.Asp246Tyr		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.D246Y	ENST00000368468.3	37	c.736	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652492	0.88056	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.81330	-1.48;-1.48	6.13	6.13	0.99165	.	0.086462	0.85682	D	0.000000	D	0.95069	0.8403	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	D	0.96647	0.9478	9	.	.	.	-4.9717	19.6116	0.95608	0.0:1.0:0.0:0.0	.	269;246	Q6P052;P33908	.;MA1A1_HUMAN	Y	246;269	ENSP00000357453:D246Y;ENSP00000357451:D269Y	.	D	-	1	0	MAN1A1	119664932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.763000	0.74955	2.932000	0.99384	0.644000	0.83932	GAT	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000111885		0.274	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	-	0	22	0	C	NM_005907		119623233	-1	tier1	-	no_errors	ENST00000368468	ensembl	human	known	74_37	missense	28.57	85	34	SNP	1.000	A	A	119623233	C	A	119623233	3	1	34	1	0	0	0	0	1	0	0	0	9248	855	30	3	1265	3	MAN1A1	6	119623233	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	10447666	119623233	51491834	149	8122											
RNF146	81847	genome.wustl.edu	37	chr6	127608469	127608469	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcaacaccatccccTgatgcaagcacttctctgga	10	8	7	16	0	1	1	0	1	1	0	3	2	2	2	4	1	5	3	4	1	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:127608469T>C	ENST00000368314.1	+	3	1135	c.711T>C	c.(709-711)ccT>ccC	p.P237P	ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000610153.1_Silent_p.P237P|RNF146_ENST00000309649.3_Silent_p.P236P|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Silent_p.P236P	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	237					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CACCATCCCCTGATGCAAGCA	0.478																																																	0													107	104	105					6																	127608469		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"RING-type (C3HC4) zinc fingers"	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.711T>C	6.37:g.127608469T>C			E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Silent	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.P237	ENST00000368314.1	37	c.711	CCDS56449.1	6																																																																																			RNF146	-	NULL	ENSG00000118518		0.478	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1		0	15	0	T	NM_030963		127608469	1			no_errors	ENST00000368314	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.987	C	C	127608469	T	C	127608469	2	2	34	1	0	0	0	0	0	0	0	1	13493	1567	55	4		4	RNF146	6	127608469	Silent	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	7985236	127608469	43506598	150	8123											
EPB41L2	2037	genome.wustl.edu	37	chr6	131220635	131220635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttacatttacagtaccttgGcatgatgtaggtcaacacca	12	12	8	9	0	1	1	1	1	0	0	1	1	1	1	2	2	4	4	2	2	5	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:131220635G>T	ENST00000337057.3	-	8	1413	c.1232C>A	c.(1231-1233)gCc>gAc	p.A411D	EPB41L2_ENST00000529208.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000528282.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000525193.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000527659.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000530481.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000445890.2_Missense_Mutation_p.A411D|EPB41L2_ENST00000392427.3_Missense_Mutation_p.A411D|EPB41L2_ENST00000525271.1_Missense_Mutation_p.A411D|EPB41L2_ENST00000368128.2_Missense_Mutation_p.A411D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	411	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGTACCTTGGCATGATGTAG	0.438																																																	0													149	128	135					6																	131220635		2203	4300	6503	SO:0001583	missense	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1232C>A	6.37:g.131220635G>T	ENSP00000338481:p.Ala411Asp		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.A411D	ENST00000337057.3	37	c.1232	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.159411	0.94686	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	4.22	4.22	0.49857	FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	H	0.97415	4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.95778	0.8814	10	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	411;411;411;411;411	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	D	411	ENSP00000434308:A411D;ENSP00000434576:A411D;ENSP00000402041:A411D;ENSP00000338481:A411D;ENSP00000376222:A411D;ENSP00000357110:A411D;ENSP00000436348:A411D;ENSP00000432803:A411D;ENSP00000431988:A411D;ENSP00000431647:A411D;ENSP00000436641:A411D	ENSP00000338481:A411D	A	-	2	0	EPB41L2	131262328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.657000	0.90304	0.655000	0.94253	GCC	EPB41L2	-	pirsf_Band_41_protein,pfscan_FERM_domain	ENSG00000079819		0.438	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3		0	17	0	G			131220635	-1			no_errors	ENST00000337057	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	131220635	G	T	131220635	3	4	34	1	0	0	0	0	1	0	0	0	5169	1203	42	3	1833	3	EPB41L2	6	131220635	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3612166	131220635	39894432	151	8124											
OPRM1	4988	genome.wustl.edu	37	chr6	154431489	154431489	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgaaatatctttgcaGaaaatagatttatttcaaaa	18	15	5	3	0	2	4	1	2	1	2	2	4	2	4	0	0	1	1	0	0	9	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:154431489G>T	ENST00000330432.7	+	4	1401				OPRM1_ENST00000522555.1_Intron|OPRM1_ENST00000522236.1_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000434900.2_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TATCTTTGCAGAAAATAGATT	0.294																																																	0													47	41	43					6																	154431489		692	1591	2283	SO:0001627	intron_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1165-8329G>T	6.37:g.154431489G>T			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Splice_Site	SNP	-	e4-1	ENST00000330432.7	37	c.1165-1	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	0.613	-0.824298	0.02755	.	.	ENSG00000112038	ENST00000452687	.	.	.	3.43	0.392	0.16288	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5087	0.16868	0.428:0.0:0.572:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPRM1	154473181	0.610000	0.26983	0.070000	0.20053	0.203000	0.24098	0.089000	0.15002	0.054000	0.16065	-0.236000	0.12185	.	OPRM1	-	-	ENSG00000112038		0.294	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	-	0	10	0	G	NM_000914		154431489	1	tier1	-	no_errors	ENST00000452687	ensembl	human	known	74_37	splice_site	28.26	33	13	SNP	0.141	T	T	154431489	G	T	154431489	1	4	34	0	1	0	0	0	0	0	0	0	10926	956	33	3		3	OPRM1	6	154431489	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	23210854	154431489	16683578	152	8125											
LPA	4018	genome.wustl.edu	37	chr6	160963720	160963720	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgggcctgttcttacCttgttctgagactgacttgc	4	17	10	10	0	3	2	0	2	3	1	3	3	3	2	2	1	2	3	2	1	1	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr6:160963720C>A	ENST00000316300.5	-	34	5563	c.5519G>T	c.(5518-5520)aGg>aTg	p.R1840M	LPA_ENST00000447678.1_Splice_Site_p.R1840M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4348	Kringle 16. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGTTCTTACCTTGTTCTGAG	0.512																																																	0													95	94	94					6																	160963720		2203	4300	6503	SO:0001630	splice_region_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5519+1G>T	6.37:g.160963720C>A			Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.R1840M	ENST00000316300.5	37	c.5519	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	10.45	1.354647	0.24512	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.89485	-2.52;-2.52	2.54	2.54	0.30619	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90198	0.6936	M	0.65677	2.01	0.36571	D	0.873004	D	0.71674	0.998	D	0.75020	0.985	D	0.89107	0.3493	8	.	.	.	.	10.2631	0.43438	0.0:1.0:0.0:0.0	.	4348	P08519	APOA_HUMAN	M	1840	ENSP00000321334:R1840M;ENSP00000395608:R1840M	.	R	-	2	0	LPA	160883710	1.000000	0.71417	0.954000	0.39281	0.418000	0.31294	3.717000	0.54911	1.422000	0.47177	0.205000	0.17691	AGG	LPA	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000198670		0.512	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	76	0	C	NM_005577	Missense_Mutation	160963720	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	34.16	160	83	SNP	1.000	A	A	160963720	C	A	160963720	5	1	34	1	0	0	0	0	0	0	1	0	8938	695	24	3	627	3	LPA	6	160963720	Splice_Site	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	6532231	160963720	10151347	153	8126											
SDK1	221935	genome.wustl.edu	37	chr7	4153892	4153892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaggtggtgcggggccGgacgcgggagtcaggtgagg	6	4	24	7	5	1	1	1	1	0	0	1	5	1	3	1	8	2	0	1	8	0	0	rs376608111		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:4153892G>A	ENST00000404826.2	+	25	3948	c.3809G>A	c.(3808-3810)cGg>cAg	p.R1270Q	SDK1_ENST00000389531.3_Missense_Mutation_p.R1270Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1270	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGCGGGGCCGGACGCGGGAG	0.647																																																	0								G	GLN/ARG	0,4398		0,0,2199	20	20	20		3809	5.4	0.6	7		20	1,8597		0,1,4298	no	missense	SDK1	NM_152744.3	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1270/2214	4153892	1,12995	2199	4299	6498	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3809G>A	7.37:g.4153892G>A	ENSP00000385899:p.Arg1270Gln		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1270Q	ENST00000404826.2	37	c.3809	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082381	0.76528	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.54279	0.58;0.58	5.38	5.38	0.77491	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.087235	0.46758	D	0.000268	T	0.67021	0.2849	M	0.79805	2.47	0.47949	D	0.999557	D;P	0.59357	0.985;0.883	P;B	0.50082	0.63;0.082	T	0.73780	-0.3875	10	0.87932	D	0	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	1270;1270	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Q	1270	ENSP00000385899:R1270Q;ENSP00000374182:R1270Q	ENSP00000374182:R1270Q	R	+	2	0	SDK1	4120418	1.000000	0.71417	0.590000	0.28732	0.560000	0.35617	7.454000	0.80714	2.507000	0.84556	0.655000	0.94253	CGG	SDK1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.647	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	48	0	G	NM_152744		4153892	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.867	A	A	4153892	G	A	4153892	3	1	34	1	0	0	0	0	1	0	0	0	14013	1116	39	1	3907	1	SDK1	7	4153892	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		4153892	154984771	154	8127											
NOD1	10392	genome.wustl.edu	37	chr7	30491747	30491747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttcagatggacctcaGtgaccaggaggaagacatct	11	9	11	10	0	3	3	2	1	1	2	4	6	4	6	3	3	0	1	3	3	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:30491747G>T	ENST00000222823.4	-	6	1811	c.1286C>A	c.(1285-1287)aCt>aAt	p.T429N		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	429	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ATGGACCTCAGTGACCAGGAG	0.617																																																	0													64	61	62					7																	30491747		2203	4300	6503	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1286C>A	7.37:g.30491747G>T	ENSP00000222823:p.Thr429Asn		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.T429N	ENST00000222823.4	37	c.1286	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526221	0.27299	.	.	ENSG00000106100	ENST00000222823	T	0.72394	-0.65	5.71	5.71	0.89125	NACHT nucleoside triphosphatase (1);	0.409048	0.29139	N	0.013036	T	0.64249	0.2581	M	0.67953	2.075	0.80722	D	1	P	0.44734	0.842	B	0.37047	0.24	T	0.69895	-0.5021	10	0.72032	D	0.01	.	7.8256	0.29313	0.0879:0.1654:0.7467:0.0	.	429	Q9Y239	NOD1_HUMAN	N	429	ENSP00000222823:T429N	ENSP00000222823:T429N	T	-	2	0	NOD1	30458272	0.996000	0.38824	0.992000	0.48379	0.388000	0.30384	2.810000	0.47979	2.691000	0.91804	0.563000	0.77884	ACT	NOD1	-	pfscan_NACHT_NTPase	ENSG00000106100		0.617	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	-	0	85	0	G			30491747	-1	tier1	-	no_errors	ENST00000222823	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.950	T	T	30491747	G	T	30491747	3	4	34	1	0	0	0	0	1	0	0	0	10555	1029	36	3	1611	3	NOD1	7	30491747	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	26337855	30491747	128646916	155	8128											
GLI3	2737	genome.wustl.edu	37	chr7	42006106	42006106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgctcaggtaggccgaGctgatggtgctggcgctgct	4	9	17	11	3	1	1	1	1	0	0	1	2	1	1	1	5	4	7	1	5	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:42006106G>T	ENST00000395925.3	-	15	2649	c.2565C>A	c.(2563-2565)agC>agA	p.S855R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	855					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGTAGGCCGAGCTGATGGTGC	0.672									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													38	39	38					7																	42006106		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2565C>A	7.37:g.42006106G>T	ENSP00000379258:p.Ser855Arg		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S855R	ENST00000395925.3	37	c.2565	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104340	0.37145	.	.	ENSG00000106571	ENST00000395925	D	0.91631	-2.88	4.85	3.03	0.35002	.	0.116963	0.85682	D	0.000000	D	0.95421	0.8513	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94382	0.7605	10	0.87932	D	0	.	7.0026	0.24817	0.3521:0.0:0.6479:0.0	.	855	P10071	GLI3_HUMAN	R	855	ENSP00000379258:S855R	ENSP00000379258:S855R	S	-	3	2	GLI3	41972631	1.000000	0.71417	0.998000	0.56505	0.197000	0.23852	1.727000	0.38095	1.012000	0.39366	0.462000	0.41574	AGC	GLI3	-	NULL	ENSG00000106571		0.672	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	64	0	G	NM_000168		42006106	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	T	T	42006106	G	T	42006106	3	4	34	1	0	0	0	0	1	0	0	0	6465	962	34	3	2181	3	GLI3	7	42006106	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	11514359	42006106	117132557	156	8129											
ZNF680	340252	genome.wustl.edu	37	chr7	64004109	64004109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttggctaccatctcctGtctcttcctattccagggct	4	15	9	13	0	2	0	0	0	2	0	6	0	4	0	4	3	1	3	4	3	2	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:64004109G>T	ENST00000309683.6	-	3	380	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	ZNF680_ENST00000476563.1_5'UTR|ZNF680_ENST00000447137.2_Missense_Mutation_p.Q77K	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ACCATCTCCTGTCTCTTCCTA	0.418																																																	0													144	135	138					7																	64004109		2203	4300	6503	SO:0001583	missense	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.229C>A	7.37:g.64004109G>T	ENSP00000309330:p.Gln77Lys		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q77K	ENST00000309683.6	37	c.229	CCDS34644.1	7	.	.	.	.	.	.	.	.	.	.	N	0.944	-0.708444	0.03230	.	.	ENSG00000173041	ENST00000309683;ENST00000447137	T;T	0.04551	3.6;5.78	0.458	-0.916	0.10489	Krueppel-associated box (1);	.	.	.	.	T	0.01454	0.0047	N	0.02181	-0.65	0.09310	N	1	P;B	0.40875	0.731;0.0	B;B	0.32762	0.152;0.0	T	0.43442	-0.9391	8	0.42905	T	0.14	.	.	.	.	.	77;77	Q6ZNF3;Q8NEM1	.;ZN680_HUMAN	K	77	ENSP00000309330:Q77K;ENSP00000393506:Q77K	ENSP00000309330:Q77K	Q	-	1	0	ZNF680	63641544	0.898000	0.30612	0.009000	0.14445	0.009000	0.06853	0.035000	0.13797	-0.494000	0.06669	-0.494000	0.04653	CAG	ZNF680	-	pfscan_Krueppel-associated_box	ENSG00000173041		0.418	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	-	0	30	0	G	NM_178558		64004109	-1	tier1	-	no_errors	ENST00000309683	ensembl	human	known	74_37	missense	43.56	56	44	SNP	0.011	T	T	64004109	G	T	64004109	3	4	34	1	0	0	0	0	1	0	0	0	18135	1386	48	3	1494	3	ZNF680	7	64004109	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	21998003	64004109	95134554	157	8130											
ELN	2006	genome.wustl.edu	37	chr7	73462495	73462495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggcccggaggagtggctGgtgcagcgggcaaggctggt	6	6	21	8	2	0	0	0	0	0	0	0	2	0	2	1	8	2	4	1	8	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:73462495G>T	ENST00000252034.7	+	14	1108	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C	ELN_ENST00000458204.1_Missense_Mutation_p.G227C|ELN_ENST00000320492.7_Missense_Mutation_p.G201C|ELN_ENST00000358929.4_Missense_Mutation_p.G237C|ELN_ENST00000380584.4_Missense_Mutation_p.G223C|ELN_ENST00000429192.1_Missense_Mutation_p.G242C|ELN_ENST00000414324.1_Missense_Mutation_p.G232C|ELN_ENST00000380553.4_Missense_Mutation_p.G120C|ELN_ENST00000380575.4_Missense_Mutation_p.G227C|ELN_ENST00000445912.1_Missense_Mutation_p.G237C|ELN_ENST00000380562.4_Missense_Mutation_p.G237C|ELN_ENST00000380576.5_Missense_Mutation_p.G237C|ELN_ENST00000320399.6_Missense_Mutation_p.G237C|ELN_ENST00000357036.5_Missense_Mutation_p.G242C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	237	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				AGGAGTGGCTGGTGCAGCGGG	0.612			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													55	63	60					7																	73462495		2203	4300	6503	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.709G>T	7.37:g.73462495G>T	ENSP00000252034:p.Gly237Cys		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.G237C	ENST00000252034.7	37	c.709	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801611	0.31869	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	0.49;0.51;0.37;0.97;-0.14;0.57;0.52;0.52;0.46;0.96;0.51;0.49;0.46;0.98;0.52;0.49	4.96	4.96	0.65561	.	.	.	.	.	T	0.69187	0.3083	L	0.38175	1.15	0.35572	D	0.805595	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.997;0.999;0.995;0.997;0.997;0.995;0.997;0.997;0.997;0.997;0.997;0.997;0.997;0.997	P;D;P;P;P;P;P;P;P;P;D;D;D;P	0.65773	0.874;0.938;0.874;0.874;0.874;0.874;0.874;0.874;0.874;0.874;0.911;0.911;0.911;0.874	T	0.77606	-0.2525	9	0.87932	D	0	-4.0168	13.6882	0.62529	0.0:0.0:1.0:0.0	.	237;206;201;232;227;237;227;242;242;237;120;193;223;237	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	237;237;237;201;215;98;232;237;227;223;227;242;203;242;206;120;237;155;237	ENSP00000389857:G237C;ENSP00000252034:G237C;ENSP00000351807:G237C;ENSP00000315607:G201C;ENSP00000406949:G215C;ENSP00000389206:G98C;ENSP00000392575:G232C;ENSP00000369936:G237C;ENSP00000369949:G227C;ENSP00000369958:G223C;ENSP00000403162:G227C;ENSP00000349540:G242C;ENSP00000391129:G242C;ENSP00000369926:G120C;ENSP00000369950:G237C;ENSP00000313565:G237C	ENSP00000252034:G237C	G	+	1	0	ELN	73100431	1.000000	0.71417	0.866000	0.34008	0.186000	0.23388	5.162000	0.64942	2.294000	0.77228	0.400000	0.26472	GGT	ELN	-	prints_Tropoelastin	ENSG00000049540		0.612	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0	140	0	G	NM_000501		73462495	1	tier1	-	no_errors	ENST00000358929	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.778	T	T	73462495	G	T	73462495	3	4	34	1	0	0	0	0	1	0	0	0	5087	1348	47	3	778	3	ELN	7	73462495	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	9458386	73462495	85676168	158	8131											
GTF2IRD1	9569	genome.wustl.edu	37	chr7	73933774	73933774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgggactcgaaggcccTggtggagctgaacggtgtct	6	7	18	10	4	1	1	0	1	1	0	2	4	1	3	1	6	2	1	1	6	2	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:73933774T>C	ENST00000265755.3	+	6	1034	c.641T>C	c.(640-642)cTg>cCg	p.L214P	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.L214P|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L214P|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L246P|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	214					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCGAAGGCCCTGGTGGAGCTG	0.617																																																	0													109	114	112					7																	73933774		2203	4300	6503	SO:0001583	missense	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.641T>C	7.37:g.73933774T>C	ENSP00000265755:p.Leu214Pro		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L214P	ENST00000265755.3	37	c.641	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097883	0.56075	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.13	3.94	0.45596	.	0.332375	0.28803	N	0.014082	T	0.23649	0.0572	N	0.19112	0.55	0.51482	D	0.999924	D;P;P;P	0.62365	0.991;0.898;0.832;0.797	P;B;B;P	0.52109	0.69;0.352;0.352;0.571	T	0.02037	-1.1225	10	0.24483	T	0.36	-9.1455	5.6003	0.17349	0.144:0.0:0.3042:0.5519	.	246;214;214;214	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	P	214;246;214;214	ENSP00000265755:L214P;ENSP00000397566:L246P;ENSP00000408477:L214P;ENSP00000418383:L214P	ENSP00000265755:L214P	L	+	2	0	GTF2IRD1	73571710	0.666000	0.27475	0.998000	0.56505	0.962000	0.63368	1.283000	0.33237	2.062000	0.61559	0.459000	0.35465	CTG	GTF2IRD1	-	superfamily_GTF2I,pirsf_TF_II-I	ENSG00000006704		0.617	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2		0	107	0	T	NM_016328		73933774	1			no_errors	ENST00000265755	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.982	C	C	73933774	T	C	73933774	3	2	34	1	0	0	0	0	1	0	0	0	6895	1580	55	4	659	4	GTF2IRD1	7	73933774	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	471279	73933774	85204889	159	8132											
ABCB1	5243	genome.wustl.edu	37	chr7	87183163	87183163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcataagatgcatagatcaGcaggaaagcagcacctatag	17	6	10	8	0	1	2	1	0	0	2	1	3	1	3	1	1	5	5	1	1	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:87183163G>T	ENST00000265724.3	-	10	1330	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	ABCB1_ENST00000543898.1_Missense_Mutation_p.L241M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	305	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.L305L(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCATAGATCAGCAGGAAAGCA	0.393																																																	1	Substitution - coding silent(1)	endometrium(1)											180	171	174					7																	87183163		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.913C>A	7.37:g.87183163G>T	ENSP00000265724:p.Leu305Met		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L305M	ENST00000265724.3	37	c.913	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035596	0.35893	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.91351	-2.83;-2.83	5.41	-0.731	0.11151	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053593	0.64402	D	0.000001	D	0.89005	0.6592	L	0.48642	1.525	0.38289	D	0.942642	P;P	0.51537	0.798;0.946	B;P	0.50617	0.04;0.646	D	0.86718	0.1940	10	0.45353	T	0.12	-12.6395	13.2389	0.59985	0.1465:0.0:0.8535:0.0	.	241;305	B5AK60;P08183	.;MDR1_HUMAN	M	86;305;241	ENSP00000265724:L305M;ENSP00000444095:L241M	ENSP00000265724:L305M	L	-	1	2	ABCB1	87021099	0.001000	0.12720	0.383000	0.26132	0.921000	0.55340	-0.206000	0.09398	-0.347000	0.08299	0.655000	0.94253	CTG	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2		0	17	0	G	NM_000927		87183163	-1			no_errors	ENST00000265724	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.928	T	T	87183163	G	T	87183163	3	4	34	1	0	0	0	0	1	0	0	0	40	962	34	3	3009	3	ABCB1	7	87183163	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	13249389	87183163	71955500	160	8133											
SAMD9	54809	genome.wustl.edu	37	chr7	92733038	92733038	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaggagtagtacaggtacGtattcctgacggttcattgc	11	11	11	8	2	1	1	1	1	0	0	2	2	2	2	1	3	3	5	1	3	5	7	rs189020649	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:92733038G>T	ENST00000379958.2	-	3	2642	c.2373C>A	c.(2371-2373)taC>taA	p.Y791*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	791						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTACAGGTACGTATTCCTGAC	0.378																																																	0													114	110	111					7																	92733038		2203	4299	6502	SO:0001587	stop_gained	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2373C>A	7.37:g.92733038G>T	ENSP00000369292:p.Tyr791*		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.Y791*	ENST00000379958.2	37	c.2373	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760880	0.49468	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	.	.	.	4.44	-1.11	0.09840	.	0.434403	0.20596	U	0.089241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7988	0.46476	0.4329:0.0:0.5671:0.0	.	.	.	.	X	791	.	ENSP00000369292:Y791X	Y	-	3	2	SAMD9	92570974	0.007000	0.16637	0.893000	0.35052	0.011000	0.07611	-0.250000	0.08830	-0.148000	0.11234	-1.053000	0.02334	TAC	SAMD9	-	superfamily_P-loop_NTPase	ENSG00000205413		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1		0	26	0	G	NM_017654		92733038	-1			no_errors	ENST00000379958	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.001	T	T	92733038	G	T	92733038	4	4	34	1	0	0	0	0	0	1	0	0	13871	1140	40	2	2400	2	SAMD9	7	92733038	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5549875	92733038	66405625	161	8134											
TMEM168	64418	genome.wustl.edu	37	chr7	112424213	112424213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacacgcaaaagcaatcGgatttttgggagtttccaat	16	10	8	7	2	0	0	0	0	0	0	2	2	1	2	1	2	2	3	1	2	6	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:112424213G>T	ENST00000312814.6	-	2	1228	c.668C>A	c.(667-669)cCg>cAg	p.P223Q	TMEM168_ENST00000454074.1_Missense_Mutation_p.P223Q	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	223						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						AAAAGCAATCGGATTTTTGGG	0.318																																																	0													57	63	61					7																	112424213		2203	4299	6502	SO:0001583	missense	0				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.668C>A	7.37:g.112424213G>T	ENSP00000323068:p.Pro223Gln		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.P223Q	ENST00000312814.6	37	c.668	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088287	0.76756	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78851	-0.2041	9	0.87932	D	0	-17.347	20.6397	0.99537	0.0:0.0:1.0:0.0	.	223	Q9H0V1	TM168_HUMAN	Q	223	.	ENSP00000323068:P223Q	P	-	2	0	TMEM168	112211449	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.903000	0.87398	2.880000	0.98712	0.650000	0.86243	CCG	TMEM168	-	NULL	ENSG00000146802		0.318	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4		0	21	0	G	NM_022484		112424213	-1			no_errors	ENST00000312814	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	112424213	G	T	112424213	3	4	34	1	0	0	0	0	1	0	0	0	16130	1116	39	2	1441	2	TMEM168	7	112424213	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	19691175	112424213	46714450	162	8135											
TFEC	22797	genome.wustl.edu	37	chr7	115590971	115590971	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccaagctccttgattcGgtaattaatattataccttc	11	15	6	9	1	0	1	0	1	0	0	3	1	1	1	3	1	3	2	3	1	6	8			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:115590971G>T	ENST00000265440.7	-	6	652	c.472C>A	c.(472-474)Cga>Aga	p.R158R	TFEC_ENST00000484212.1_Silent_p.R248R|TFEC_ENST00000320239.7_Silent_p.R129R|TFEC_ENST00000457268.1_Silent_p.R91R|TFEC_ENST00000393485.1_Silent_p.R129R	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	158	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299																																																	0													39	43	41					7																	115590971		2203	4297	6500	SO:0001819	synonymous_variant	0			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.472C>A	7.37:g.115590971G>T			B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Silent	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R158	ENST00000265440.7	37	c.472	CCDS5762.1	7																																																																																			TFEC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000105967		0.299	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4		0	26	0	G	NM_012252		115590971	-1			no_errors	ENST00000265440	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	115590971	G	T	115590971	2	4	34	1	0	0	0	0	0	0	0	1	15849	1124	39	2		2	TFEC	7	115590971	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3166758	115590971	43547692	163	8136											
CFTR	1080	genome.wustl.edu	37	chr7	117199647	117199647	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattaaagaaaatatcatcTttggtgtttcctatgatgaa	14	15	6	6	0	2	3	1	2	1	1	3	3	3	3	2	1	0	1	2	1	7	5	rs121909001|rs199826652|rs113993960	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:117199647T>A	ENST00000003084.6	+	11	1654	c.1522T>A	c.(1522-1524)Ttt>Att	p.F508I	CFTR_ENST00000454343.1_Missense_Mutation_p.F447I|AC000111.3_ENST00000441019.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	508	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		F -> C (in dbSNP:rs1800093).|Missing (in CF and CBAVD; most common mutation; 72% of the population; CFTR fails to be properly delivered to plasma membrane).		cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAATATCATCTTTGGTGTTTC	0.363									Cystic Fibrosis																																								0													88	87	87					7																	117199647		2203	4129	6332	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1522T>A	7.37:g.117199647T>A	ENSP00000003084:p.Phe508Ile		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.F508I	ENST00000003084.6	37	c.1522	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774408	0.90108	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90504	-2.68;-2.68;-2.68	5.48	5.48	0.80851	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.95332	0.8485	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95885	0.8902	10	0.87932	D	0	-24.968	15.8605	0.79017	0.0:0.0:0.0:1.0	.	508	P13569	CFTR_HUMAN	I	508;447;478	ENSP00000003084:F508I;ENSP00000403677:F447I;ENSP00000389119:F478I	ENSP00000003084:F508I	F	+	1	0	CFTR	116986883	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.590000	0.82653	2.197000	0.70478	0.533000	0.62120	TTT	CFTR	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.363	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3		0	8	0	T	NM_000492		117199647	1			no_errors	ENST00000003084	ensembl	human	known	74_37	missense	10.71	23	3	SNP	1.000	A	A	117199647	T	A	117199647	3	1	34	1	0	0	0	0	1	0	0	0	3301	1609	56	5	1564	5	CFTR	7	117199647	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	1608676	117199647	41939016	164	8137											
GRM8	2918	genome.wustl.edu	37	chr7	126173069	126173069	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaaccaaatgatgcaggtGgtatacatggtaaatccaat	15	10	9	7	0	0	1	0	1	0	0	1	1	1	1	2	3	3	4	2	3	7	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:126173069G>T	ENST00000339582.2	-	9	3175	c.2367C>A	c.(2365-2367)acC>acA	p.T789T	GRM8_ENST00000480995.1_5'Flank|GRM8_ENST00000444921.2_Silent_p.T789T|GRM8_ENST00000358373.3_Silent_p.T789T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	789					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.T789T(3)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TGATGCAGGTGGTATACATGG	0.408										HNSCC(24;0.065)																																							3	Substitution - coding silent(3)	lung(3)											132	116	122					7																	126173069		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2367C>A	7.37:g.126173069G>T			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.T789	ENST00000339582.2	37	c.2367	CCDS5794.1	7																																																																																			GRM8	-	pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C	ENSG00000179603		0.408	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0	19	0	G			126173069	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	silent	6.52	43	3	SNP	1.000	T	T	126173069	G	T	126173069	2	4	34	1	0	0	0	0	0	0	0	1	6830	1335	47	3		3	GRM8	7	126173069	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8973422	126173069	32965594	165	8138											
PODXL	5420	genome.wustl.edu	37	chr7	131195807	131195807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggtcacactgtggctGcttttccccccagagtttgt	4	15	10	12	0	2	1	1	0	1	1	3	1	3	1	3	2	1	3	3	2	0	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:131195807G>T	ENST00000378555.3	-	2	733	c.486C>A	c.(484-486)agC>agA	p.S162R	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000541194.1_Missense_Mutation_p.S164R|PODXL_ENST00000322985.9_Missense_Mutation_p.S162R|PODXL_ENST00000537928.1_Missense_Mutation_p.S162R			O00592	PODXL_HUMAN	podocalyxin-like	162	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CACTGTGGCTGCTTTTCCCCC	0.537																																																	0													349	304	319					7																	131195807		2203	4300	6503	SO:0001583	missense	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.486C>A	7.37:g.131195807G>T	ENSP00000367817:p.Ser162Arg		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.S164R	ENST00000378555.3	37	c.492	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	G	4.389	0.071767	0.08436	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.13657	2.73;2.57;2.74;2.8	3.06	-6.12	0.02124	.	7.777730	0.00166	N	0.000017	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.19073	0.033;0.02	B;B	0.19946	0.027;0.012	T	0.30621	-0.9972	10	0.48119	T	0.1	0.0685	9.6101	0.39657	0.1902:0.1383:0.6714:0.0	.	162;162	O00592-2;O00592	.;PODXL_HUMAN	R	164;162;152;162;162	ENSP00000440518:S164R;ENSP00000442655:S162R;ENSP00000367817:S162R;ENSP00000319782:S162R	ENSP00000319782:S162R	S	-	3	2	PODXL	130846347	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.899000	0.01600	-1.906000	0.01089	-1.331000	0.01271	AGC	PODXL	-	pirsf_Podocalyxin-like_p1	ENSG00000128567		0.537	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2		0	103	0	G	NM_001018111		131195807	-1			no_errors	ENST00000541194	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	131195807	G	T	131195807	3	4	34	1	0	0	0	0	1	0	0	0	12219	1310	46	3	1222	3	PODXL	7	131195807	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5022738	131195807	27942856	166	8139											
SVOPL	136306	genome.wustl.edu	37	chr7	138363230	138363230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtggaaacgcccgaagccGatagtctccactgcatcttc	10	9	9	13	3	2	0	0	0	2	0	4	3	2	1	3	1	3	1	3	1	3	2	rs374224696	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:138363230G>A	ENST00000419765.3	-	2	156	c.123C>T	c.(121-123)atC>atT	p.I41I	SVOPL_ENST00000421622.1_Silent_p.I41I	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	41						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCCCGAAGCCGATAGTCTCCA	0.483													G|||	2	0.000399361	8e-04	0	5008	,	,		19471	0.001		0	False		,,,				2504	0																0								G		1,1383		0,1,691	56	58	58		123	-3	0.6	7		58	0,3182		0,0,1591	no	coding-synonymous	SVOPL	NM_001139456.1		0,1,2282	AA,AG,GG		0.0,0.0723,0.0219		41/493	138363230	1,4565	692	1591	2283	SO:0001819	synonymous_variant	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.123C>T	7.37:g.138363230G>A				Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I41	ENST00000419765.3	37	c.123	CCDS47721.1	7																																																																																			SVOPL	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000157703		0.483	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	0	52	0	G	NM_174959		138363230	-1	tier1	-	no_errors	ENST00000419765	ensembl	human	novel	74_37	silent	5.48	69	4	SNP	0.785	A	A	138363230	G	A	138363230	2	1	34	1	0	0	0	0	0	0	0	1	15471	1048	37	1		1	SVOPL	7	138363230	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7167423	138363230	20775433	167	8140											
CLCN1	1180	genome.wustl.edu	37	chr7	143027864	143027864	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacttctgtgcccctgcaGgagtgctatttagcatcgag	8	11	10	12	1	1	0	0	0	1	0	2	2	1	1	2	1	4	3	2	1	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:143027864G>T	ENST00000343257.2	+	8	940		c.e8-1		CLCN1_ENST00000495612.1_Splice_Site	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGCCCCTGCAGGAGTGCTATT	0.532																																																	0													111	86	95					7																	143027864		2203	4300	6503	SO:0001630	splice_region_variant	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.854-1G>T	7.37:g.143027864G>T			A4D2H5|Q2M202	Splice_Site	SNP	-	e8-1	ENST00000343257.2	37	c.854-1	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	13.77	2.336395	0.41398	.	.	ENSG00000188037	ENST00000343257	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.355	0.87333	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCN1	142737986	1.000000	0.71417	0.777000	0.31699	0.261000	0.26267	9.831000	0.99420	2.087000	0.62958	0.453000	0.30009	.	CLCN1	-	-	ENSG00000188037		0.532	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1		0	36	0	G	NM_000083	Intron	143027864	1			no_errors	ENST00000343257	ensembl	human	known	74_37	splice_site	5.13	37	2	SNP	1.000	T	T	143027864	G	T	143027864	5	4	34	1	0	0	0	0	0	0	1	0	3469	1014	35	3	883	3	CLCN1	7	143027864	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4664634	143027864	16110799	168	8141											
CUL1	8454	genome.wustl.edu	37	chr7	148487454	148487454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctacgccagccgccacagtgGccgaaaattgacgtggttat	10	8	11	12	4	0	1	0	1	0	0	0	2	0	1	4	2	2	1	4	2	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:148487454G>T	ENST00000325222.4	+	16	2006	c.1727G>T	c.(1726-1728)gGc>gTc	p.G576V	CUL1_ENST00000602748.1_Missense_Mutation_p.G576V|CUL1_ENST00000409469.1_Missense_Mutation_p.G576V	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	576					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CGCCACAGTGGCCGAAAATTG	0.393																																																	0													89	87	88					7																	148487454		2203	4300	6503	SO:0001583	missense	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1727G>T	7.37:g.148487454G>T	ENSP00000326804:p.Gly576Val		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.G576V	ENST00000325222.4	37	c.1727	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546500	0.86022	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.78364	-1.17;-1.17	5.07	5.07	0.68467	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.92609	0.7652	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.95303	0.8405	10	0.87932	D	0	-19.1619	18.4658	0.90753	0.0:0.0:1.0:0.0	.	503;576	E7EWR0;Q13616	.;CUL1_HUMAN	V	576;576;534;503	ENSP00000387160:G576V;ENSP00000326804:G576V	ENSP00000326804:G576V	G	+	2	0	CUL1	148118387	1.000000	0.71417	0.984000	0.44739	0.759000	0.43091	9.538000	0.98072	2.359000	0.80004	0.655000	0.94253	GGC	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000055130		0.393	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1		0	25	0	G	NM_003592		148487454	1			no_errors	ENST00000325222	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	148487454	G	T	148487454	3	4	34	1	0	0	0	0	1	0	0	0	4063	1203	42	3	1785	3	CUL1	7	148487454	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5459590	148487454	10651209	169	8142											
ZNF425	155054	genome.wustl.edu	37	chr7	148802515	148802515	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttagaatctctgtttCtcggagacttggagactgga	9	16	10	6	1	2	3	0	0	2	3	4	6	2	4	0	3	0	1	0	3	3	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr7:148802515C>A	ENST00000378061.2	-	4	580	c.448G>T	c.(448-450)Gaa>Taa	p.E150*		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	150					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATCTCTGTTTCTCGGAGACTT	0.453																																																	0													122	122	122					7																	148802515		2203	4300	6503	SO:0001587	stop_gained	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.448G>T	7.37:g.148802515C>A	ENSP00000367300:p.Glu150*		B3KPM1|Q08AG3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E150*	ENST00000378061.2	37	c.448	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193975	0.58017	.	.	ENSG00000204947	ENST00000378061	.	.	.	2.75	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	5.6211	0.17457	0.0:0.8332:0.0:0.1668	.	.	.	.	X	150	.	ENSP00000367300:E150X	E	-	1	0	ZNF425	148433448	0.576000	0.26700	0.355000	0.25773	0.213000	0.24496	1.474000	0.35398	1.364000	0.46038	0.655000	0.94253	GAA	ZNF425	-	NULL	ENSG00000204947		0.453	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1		0	22	0	C	XM_088140		148802515	-1			no_errors	ENST00000378061	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.251	A	A	148802515	C	A	148802515	4	1	34	1	0	0	0	0	0	1	0	0	17947	922	32	3	1814	3	ZNF425	7	148802515	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	315061	148802515	10336148	170	8143											
CHMP7	91782	genome.wustl.edu	37	chr8	23104385	23104385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggcttctgggcgccgttGgtgctgagccacagccgccg	4	8	16	13	4	1	1	0	1	1	0	1	1	1	1	4	3	3	3	4	3	0	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:23104385G>A	ENST00000397677.1	+	2	825	c.177G>A	c.(175-177)ttG>ttA	p.L59L	CHMP7_ENST00000313219.7_Silent_p.L59L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	59					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGGCGCCGTTGGTGCTGAGCC	0.667											OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													9	9	9					8																	23104385		2190	4283	6473	SO:0001819	synonymous_variant	0			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"Charged multivesicular body proteins"	28439	protein-coding gene	gene with protein product		611130	"CHMP family, member 7"			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.177G>A	8.37:g.23104385G>A		761	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	pfam_Snf7	p.L59	ENST00000397677.1	37	c.177	CCDS6040.1	8																																																																																			CHMP7	-	NULL	ENSG00000147457		0.667	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP7	HGNC	protein_coding	OTTHUMT00000254717.1		0	106	0	G	NM_152272		23104385	1			no_errors	ENST00000313219	ensembl	human	known	74_37	silent	5.17	55	3	SNP	1.000	A	A	23104385	G	A	23104385	2	1	34	1	0	0	0	0	0	0	0	1	3368	1339	47	3		3	CHMP7	8	23104385	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		23104385	123259637	171	8144											
NEFM	4741	genome.wustl.edu	37	chr8	24774935	24774935	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacctgaagttaaagaaGaggaaggggaaaaggaggaa	18	4	15	4	0	0	3	0	1	0	2	0	7	0	7	1	5	1	2	1	5	8	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:24774935G>T	ENST00000221166.5	+	3	2349	c.1567G>T	c.(1567-1569)Gag>Tag	p.E523*	NEFM_ENST00000518131.1_Nonsense_Mutation_p.E523*|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E523*|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E147*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	523	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTTAaagaagaggaagggga	0.488																																																	0													30	35	33					8																	24774935		2193	4277	6470	SO:0001587	stop_gained	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1567G>T	8.37:g.24774935G>T	ENSP00000221166:p.Glu523*		B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E523*	ENST00000221166.5	37	c.1567	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243558	0.79912	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	4.36	4.36	0.52297	.	0.165254	0.27735	N	0.018079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.8669	0.52499	0.0895:0.0:0.9105:0.0	.	.	.	.	X	523;523;523;147	.	ENSP00000221166:E523X	E	+	1	0	NEFM	24830840	1.000000	0.71417	0.863000	0.33907	0.125000	0.20455	3.190000	0.50973	2.133000	0.65898	0.313000	0.20887	GAG	NEFM	-	NULL	ENSG00000104722		0.488	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2		0	9	0	G	NM_005382		24774935	1			no_errors	ENST00000221166	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	24774935	G	T	24774935	4	4	34	1	0	0	0	0	0	1	0	0	10355	943	33	3	1577	3	NEFM	8	24774935	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1670550	24774935	121589087	172	8145											
IMPAD1	54928	genome.wustl.edu	37	chr8	57905881	57905881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacttctcgtggaggacGttgctctcgcggacgcgcct	4	11	14	12	6	2	0	0	0	2	0	4	4	2	4	1	4	1	2	1	4	0	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:57905881G>T	ENST00000262644.4	-	1	522	c.264C>A	c.(262-264)aaC>aaA	p.N88K		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	88					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CGTGGAGGACGTTGCTCTCGC	0.667																																																	0													62	53	56					8																	57905881		2203	4300	6503	SO:0001583	missense	0				CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.264C>A	8.37:g.57905881G>T	ENSP00000262644:p.Asn88Lys		Q6NVY7	Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.N88K	ENST00000262644.4	37	c.264	CCDS6169.1	8	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741707	0.15642	.	.	ENSG00000104331	ENST00000262644;ENST00000517461	T;T	0.51325	0.71;1.0	4.95	-2.07	0.07276	.	0.154140	0.56097	D	0.000031	T	0.43743	0.1261	L	0.39085	1.19	0.35517	D	0.801134	D	0.58620	0.983	P	0.57911	0.829	T	0.49661	-0.8916	10	0.22109	T	0.4	-7.051	8.3828	0.32481	0.3367:0.0:0.5573:0.106	.	88	Q9NX62	IMPA3_HUMAN	K	88;13	ENSP00000262644:N88K;ENSP00000430185:N13K	ENSP00000262644:N88K	N	-	3	2	IMPAD1	58068435	0.974000	0.33945	0.467000	0.27180	0.000000	0.00434	0.545000	0.23268	-0.639000	0.05502	-2.628000	0.00155	AAC	IMPAD1	-	pfam_Inositol_monophosphatase	ENSG00000104331		0.667	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPAD1	HGNC	protein_coding	OTTHUMT00000378665.1		0	74	0	G	NM_017813		57905881	-1			no_errors	ENST00000262644	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.063	T	T	57905881	G	T	57905881	3	4	34	1	0	0	0	0	1	0	0	0	7752	1136	40	2	835	2	IMPAD1	8	57905881	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	33130946	57905881	88458141	173	8146											
INTS8	55656	genome.wustl.edu	37	chr8	95888448	95888448	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactgaattctgtctttcaGtcatgatgctatggactcct	9	16	7	9	0	4	2	2	2	2	0	5	3	5	3	1	1	2	1	1	1	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:95888448G>T	ENST00000523731.1	+	25	2895		c.e25-1		INTS8_ENST00000447247.1_Splice_Site	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8						snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CTGTCTTTCAGTCATGATGCT	0.333																																																	0													186	170	175					8																	95888448		2203	4299	6502	SO:0001630	splice_region_variant	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2763-1G>T	8.37:g.95888448G>T			B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Splice_Site	SNP	-	e25-1	ENST00000523731.1	37	c.2763-1	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003507	0.74932	.	.	ENSG00000164941	ENST00000523731;ENST00000447247;ENST00000520526	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8326	0.96642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INTS8	95957624	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.328000	0.96403	2.686000	0.91538	0.591000	0.81541	.	INTS8	-	-	ENSG00000164941		0.333	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1		0	26	0	G	NM_017864	Intron	95888448	1			no_errors	ENST00000523731	ensembl	human	known	74_37	splice_site	5.33	71	4	SNP	1.000	T	T	95888448	G	T	95888448	5	4	34	1	0	0	0	0	0	0	1	0	7811	1043	36	3	2860	3	INTS8	8	95888448	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	37982567	95888448	50475574	174	8147											
VPS13B	157680	genome.wustl.edu	37	chr8	100791059	100791059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatccagttcttagctcaaGcagactgtaaacttctagag	13	11	8	9	0	3	3	1	0	2	3	4	3	4	3	1	0	3	4	1	0	5	5	rs369062407		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:100791059G>A	ENST00000358544.2	+	42	7765	c.7654G>A	c.(7654-7656)Gca>Aca	p.A2552T	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.A2527T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2552					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTAGCTCAAGCAGACTGTAA	0.438																																					Colon(161;2205 2542 7338 31318)												0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	122	114	116		7654,7579	3.8	0.3	8		116	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	VPS13B	NM_017890.3,NM_152564.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	2552/4023,2527/3998	100791059	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7654G>A	8.37:g.100791059G>A	ENSP00000351346:p.Ala2552Thr		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.A2552T	ENST00000358544.2	37	c.7654	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381214	0.42207	0.0	1.16E-4	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.69175	-0.38;-0.38	5.55	3.75	0.43078	.	0.368646	0.28036	N	0.016848	T	0.53769	0.1817	L	0.40543	1.245	0.09310	N	0.999995	P;B	0.35272	0.493;0.002	B;B	0.30495	0.116;0.001	T	0.46162	-0.9211	10	0.48119	T	0.1	.	10.7019	0.45933	0.209:0.0:0.791:0.0	.	2527;2552	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	T	2527;2552	ENSP00000349685:A2527T;ENSP00000351346:A2552T	ENSP00000349685:A2527T	A	+	1	0	VPS13B	100860235	0.892000	0.30473	0.349000	0.25694	0.992000	0.81027	2.654000	0.46699	0.693000	0.31634	0.655000	0.94253	GCA	VPS13B	-	NULL	ENSG00000132549		0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0	24	0	G	NM_184042		100791059	1			no_errors	ENST00000358544	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.049	A	A	100791059	G	A	100791059	3	1	34	1	0	0	0	0	1	0	0	0	17239	971	34	3	8010	3	VPS13B	8	100791059	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4902611	100791059	45572963	175	8148											
RGS22	26166	genome.wustl.edu	37	chr8	101014554	101014554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctctgtaagttattctcCggaactgctcaatgtctgtc	8	15	8	10	1	4	0	1	0	3	0	7	2	4	1	1	1	2	3	1	1	4	3	rs535984838		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:101014554C>A	ENST00000360863.6	-	18	2860	c.2666G>T	c.(2665-2667)cGg>cTg	p.R889L	RGS22_ENST00000523437.1_Missense_Mutation_p.R877L|RGS22_ENST00000523287.1_Missense_Mutation_p.R708L|RGS22_ENST00000519421.1_5'UTR|SNORD77_ENST00000391112.1_RNA	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	889	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGTTATTCTCCGGAACTGCTC	0.318																																																	0													83	75	78					8																	101014554		1819	4081	5900	SO:0001583	missense	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2666G>T	8.37:g.101014554C>A	ENSP00000354109:p.Arg889Leu		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.R889L	ENST00000360863.6	37	c.2666	CCDS43758.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.102854|4.102854	0.76983|0.76983	.|.	.|.	ENSG00000132554|ENSG00000132554	ENST00000427793|ENST00000360863;ENST00000523287;ENST00000523437;ENST00000517828	.|T;T;T;T	.|0.25250	.|1.81;1.81;1.81;1.81	5.4|5.4	5.4|5.4	0.78164|0.78164	.|Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	.|0.000000	.|0.64402	.|D	.|0.000001	.|T	.|0.54431	.|0.1858	M|M	0.73598|0.73598	2.24|2.24	0.38889|0.38889	D|D	0.957077|0.957077	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	.|T	.|0.59005	.|-0.7535	.|10	0.02654|0.72032	T|D	1|0.01	.|.	19.5416|19.5416	0.95277|0.95277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|877;889;708	.|A8K944;Q8NE09;G3V112	.|.;RGS22_HUMAN;.	X|L	877|889;708;877;204	.|ENSP00000354109:R889L;ENSP00000429382:R708L;ENSP00000428212:R877L;ENSP00000427754:R204L	ENSP00000389751:G877X|ENSP00000354109:R889L	G|R	-|-	1|2	0|0	RGS22|RGS22	101083730|101083730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.450000|0.450000	0.32258|0.32258	2.738000|2.738000	0.47401|0.47401	2.683000|2.683000	0.91414|0.91414	0.650000|0.650000	0.86243|0.86243	GGA|CGG	RGS22	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000132554		0.318	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1		0	11	0	C	NM_015668		101014554	-1			no_errors	ENST00000360863	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	101014554	C	A	101014554	3	1	34	1	0	0	0	0	1	0	0	0	13350	652	23	2	1168	2	RGS22	8	101014554	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	223495	101014554	45349468	176	8149											
TM7SF4	81501	genome.wustl.edu	37	chr8	105367335	105367335	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagcgcatccaatatctGcatgcaaagctgcttaaaaa	16	8	8	9	1	1	0	0	0	1	0	2	1	2	1	1	1	5	5	1	1	7	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:105367335G>T	ENST00000297581.2	+	3	1309	c.1260G>T	c.(1258-1260)ctG>ctT	p.L420L	DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	420					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCCAATATCTGCATGCAAAGC	0.463																																																	0													102	103	103					8																	105367335		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1260G>T	8.37:g.105367335G>T			B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.L420	ENST00000297581.2	37	c.1260	CCDS6301.1	8																																																																																			DCSTAMP	-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	ENSG00000164935		0.463	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1		0	18	0	G	NM_030788		105367335	1			no_errors	ENST00000297581	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.155	T	T	105367335	G	T	105367335	2	4	34	1	0	0	0	0	0	0	0	1	16023	1306	46	3		3	TM7SF4	8	105367335	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4352781	105367335	40996687	177	8150											
ANGPT1	284	genome.wustl.edu	37	chr8	108264090	108264090	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacattgcgctttcaaaaaTctaaaggtcgaatcatcata	15	12	6	8	2	4	1	3	1	1	0	5	2	4	1	0	1	1	1	0	1	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:108264090T>A	ENST00000520734.1	-	8	1175	c.890A>T	c.(889-891)gAt>gTt	p.D297V	ANGPT1_ENST00000520052.1_Missense_Mutation_p.D296V|AP000428.1_ENST00000390706.1_RNA|ANGPT1_ENST00000518386.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1	497	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTTCAAAAATCTAAAGGTCG	0.418																																																	0													133	125	128					8																	108264090		2203	4300	6503	SO:0001583	missense	0			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"Fibrinogen C domain containing"	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.890A>T	8.37:g.108264090T>A	ENSP00000430750:p.Asp297Val		Q5HYA0	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.D497V	ENST00000520734.1	37	c.1490		8	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671698	0.88348	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.58652	0.32;0.37;0.45;0.44	5.9	5.9	0.94986	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.040814	0.85682	D	0.000000	T	0.76378	0.3979	M	0.84585	2.705	0.80722	D	1	P;P	0.43477	0.808;0.808	P;P	0.56088	0.791;0.791	T	0.79911	-0.1603	10	0.87932	D	0	.	16.3275	0.82990	0.0:0.0:0.0:1.0	.	497;497	Q5HYA0;Q15389	.;ANGP1_HUMAN	V	497;496;297;296	ENSP00000428340:D497V;ENSP00000297450:D496V;ENSP00000430750:D297V;ENSP00000429349:D296V	ENSP00000297450:D496V	D	-	2	0	ANGPT1	108333266	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.040000	0.89188	2.266000	0.75297	0.528000	0.53228	GAT	ANGPT1	-	superfamily_Fibrinogen_a/b/g_C_dom	ENSG00000154188		0.418	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	ANGPT1	HGNC	protein_coding	OTTHUMT00000380428.2	-	0	19	0	T	NM_001146, NM_139290		108264090	-1	tier1	-	no_errors	ENST00000517746	ensembl	human	known	74_37	missense	19.61	82	20	SNP	1.000	A	A	108264090	T	A	108264090	3	1	34	1	0	0	0	0	1	0	0	0	610	1435	50	5	10	5	ANGPT1	8	108264090	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	2896755	108264090	38099932	178	8151											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110393634	110393634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtttaactatggagttGataacgctgagttgggaaac	13	11	11	6	1	0	2	0	2	0	0	0	4	0	4	1	2	3	4	1	2	4	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:110393634G>A	ENST00000378402.5	+	3	303	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	67	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D67N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGGAGTTGATAACGCTGA	0.328										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	cervix(1)											60	58	59					8																	110393634		1821	4072	5893	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.199G>A	8.37:g.110393634G>A	ENSP00000367655:p.Asp67Asn		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.D67N	ENST00000378402.5	37	c.199	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543274	0.27563	.	.	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	6.16	5.26	0.73747	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.188029	0.46145	D	0.000301	T	0.63462	0.2513	N	0.17674	0.51	0.24537	N	0.994086	B	0.13594	0.008	B	0.20955	0.032	T	0.36915	-0.9728	10	0.10111	T	0.7	.	15.5091	0.75766	0.0:0.1378:0.8622:0.0	.	67	Q86WI1	PKHL1_HUMAN	N	67	ENSP00000367655:D67N	ENSP00000367655:D67N	D	+	1	0	PKHD1L1	110462810	0.543000	0.26434	0.996000	0.52242	0.923000	0.55619	1.817000	0.39002	2.937000	0.99478	0.650000	0.86243	GAT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	17	0	G	NM_177531		110393634	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	16.03	110	21	SNP	1.000	A	A	110393634	G	A	110393634	3	1	34	1	0	0	0	0	1	0	0	0	12011	1290	45	3	209	3	PKHD1L1	8	110393634	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2129544	110393634	35970388	179	8152											
CSMD3	114788	genome.wustl.edu	37	chr8	113347567	113347567	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataataccaaccgtgataacTgagcacaaaaaagccacttg	18	7	6	10	1	0	2	0	2	0	0	0	2	0	2	3	0	5	1	3	0	7	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:113347567T>G	ENST00000297405.5	-	45	7400	c.7156A>C	c.(7156-7158)Agt>Cgt	p.S2386R	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2316R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2346R|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2282R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2386	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S2386C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCGTGATAACTGAGCACAAAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)											92	89	90					8																	113347567		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7156A>C	8.37:g.113347567T>G	ENSP00000297405:p.Ser2386Arg		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2386R	ENST00000297405.5	37	c.7156	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476826	0.63849	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.68	4.68	0.58851	CUB (4);	0.260360	0.38436	N	0.001692	T	0.47154	0.1430	N	0.03115	-0.41	0.53005	D	0.999966	B;B;P	0.49783	0.016;0.02;0.928	B;B;P	0.55391	0.017;0.044;0.775	T	0.51865	-0.8651	10	0.26408	T	0.33	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	2282;2386;2346	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	2346;2386;1656;2282;2316	ENSP00000345799:S2346R;ENSP00000297405:S2386R;ENSP00000341558:S1656R;ENSP00000412263:S2282R;ENSP00000343124:S2316R	ENSP00000297405:S2386R	S	-	1	0	CSMD3	113416743	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.825000	0.62708	2.094000	0.63399	0.477000	0.44152	AGT	CSMD3	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	23	0	T	NM_052900		113347567	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.25	120	8	SNP	1.000	G	G	113347567	T	G	113347567	3	3	34	1	0	0	0	0	1	0	0	0	3955	1580	55	4	4075	4	CSMD3	8	113347567	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	2953933	113347567	33016455	180	8153											
MYC	4609	genome.wustl.edu	37	chr8	128750895	128750895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttcatcaaaaacatcatCatccaggactgtatgtggag	14	10	7	10	0	4	0	4	0	0	0	5	2	5	2	2	2	1	1	2	2	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:128750895C>T	ENST00000259523.6	+	2	1592	c.387C>T	c.(385-387)atC>atT	p.I129I	MYC_ENST00000377970.2_Silent_p.I144I|MYC_ENST00000524013.1_Silent_p.I143I			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	129					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	AAAACATCATCATCCAGGACT	0.602		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0													62	64	64					8																	128750895		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.387C>T	8.37:g.128750895C>T		1567	A8WFE7|P01107|Q14026	Silent	SNP	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.I144	ENST00000259523.6	37	c.432		8																																																																																			MYC	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc	ENSG00000136997		0.602	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	HGNC	protein_coding	OTTHUMT00000250278.1	-	0	68	0	C			128750895	1	tier1	-	no_errors	ENST00000377970	ensembl	human	known	74_37	silent	8.33	154	14	SNP	1.000	T	T	128750895	C	T	128750895	2	4	34	1	0	0	0	0	0	0	0	1	10054	816	29	3		3	MYC	8	128750895	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	15403328	128750895	17613127	181	8154											
KCNQ3	3786	genome.wustl.edu	37	chr8	133492434	133492434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcccagccccgcggtctctCcagggcgtcgtagatcaaag	7	6	12	16	5	2	1	1	0	1	1	5	1	3	1	4	2	1	1	4	2	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492434C>T	ENST00000388996.4	-	1	766	c.346G>A	c.(346-348)Gag>Aag	p.E116K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E116K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	116					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGCGGTCTCTCCAGGGCGTCG	0.687																																																	0													43	51	48					8																	133492434		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.346G>A	8.37:g.133492434C>T	ENSP00000373648:p.Glu116Lys		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E116K	ENST00000388996.4	37	c.346	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092173	0.76756	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.99287	-5.67;-5.69	4.98	4.98	0.66077	.	0.074671	0.52532	D	0.000078	D	0.99023	0.9666	L	0.43598	1.365	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.99880	1.1111	10	0.87932	D	0	-12.2134	17.4063	0.87474	0.0:1.0:0.0:0.0	.	116;116	E7ET42;O43525	.;KCNQ3_HUMAN	K	116;116;105	ENSP00000373648:E116K;ENSP00000428790:E116K	ENSP00000373648:E116K	E	-	1	0	KCNQ3	133561616	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	7.408000	0.80041	2.589000	0.87451	0.557000	0.71058	GAG	KCNQ3	-	NULL	ENSG00000184156		0.687	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	83	0	C	NM_004519		133492434	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	11.20	99	14	SNP	1.000	T	T	133492434	C	T	133492434	3	4	34	1	0	0	0	0	1	0	0	0	8111	864	30	3	2332	3	KCNQ3	8	133492434	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	4741539	133492434	12871588	182	8155			1	10		5	5	107	C		1.199607e-13
KCNQ3	3786	genome.wustl.edu	37	chr8	133492450	133492450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctccagggcgtcgtagatCaaagtttggatgcgccggta	8	10	13	10	4	2	1	1	0	1	1	4	2	2	2	2	3	1	3	2	3	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492450C>T	ENST00000388996.4	-	1	750	c.330G>A	c.(328-330)ttG>ttA	p.L110L	KCNQ3_ENST00000519445.1_Silent_p.L110L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	110					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGTCGTAGATCAAAGTTTGGA	0.692																																																	0													48	56	53					8																	133492450		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.330G>A	8.37:g.133492450C>T			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L110	ENST00000388996.4	37	c.330	CCDS34943.1	8																																																																																			KCNQ3	-	NULL	ENSG00000184156		0.692	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	97	0	C	NM_004519		133492450	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	silent	9.66	131	14	SNP	1.000	T	T	133492450	C	T	133492450	2	4	34	1	0	0	0	0	0	0	0	1	8111	825	29	3		3	KCNQ3	8	133492450	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	16	133492450	12871572	183	8156			1	10		5	5	107	C		1.199607e-13
KCNQ3	3786	genome.wustl.edu	37	chr8	133492484	133492484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccggtacttggcgttgtttCtcttgactgggcggctcagc	3	13	14	11	3	2	1	1	1	1	0	3	1	2	1	1	4	2	4	1	4	1	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492484C>T	ENST00000388996.4	-	1	716	c.296G>A	c.(295-297)aGa>aAa	p.R99K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R99K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	99					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCGTTGTTTCTCTTGACTGG	0.677																																																	0													47	54	51					8																	133492484		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.296G>A	8.37:g.133492484C>T	ENSP00000373648:p.Arg99Lys		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R99K	ENST00000388996.4	37	c.296	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423591	0.25639	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.99042	-5.32;-5.36	4.43	3.56	0.40772	.	0.124862	0.41097	D	0.000941	D	0.96787	0.8951	L	0.41492	1.28	0.42849	D	0.994074	B;B	0.14012	0.009;0.009	B;B	0.15052	0.012;0.012	D	0.95009	0.8150	10	0.35671	T	0.21	-10.6301	11.5044	0.50456	0.0:0.913:0.0:0.087	.	99;99	E7ET42;O43525	.;KCNQ3_HUMAN	K	99;99;88	ENSP00000373648:R99K;ENSP00000428790:R99K	ENSP00000373648:R99K	R	-	2	0	KCNQ3	133561666	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.603000	0.61105	1.092000	0.41356	-0.259000	0.10710	AGA	KCNQ3	-	NULL	ENSG00000184156		0.677	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	94	0	C	NM_004519		133492484	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	8.72	157	15	SNP	1.000	T	T	133492484	C	T	133492484	3	4	34	1	0	0	0	0	1	0	0	0	8111	913	32	3	2382	3	KCNQ3	8	133492484	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	34	133492484	12871538	184	8157			1	10		5	5	107	C		1.199607e-13
KCNQ3	3786	genome.wustl.edu	37	chr8	133492510	133492510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggcggctcagcggggtCttggccaggagcccgatgcc	5	6	17	13	3	2	0	1	0	1	0	2	2	2	1	3	6	3	1	3	6	0	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492510C>G	ENST00000388996.4	-	1	690	c.270G>C	c.(268-270)aaG>aaC	p.K90N	KCNQ3_ENST00000519445.1_Missense_Mutation_p.K90N	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	90					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TCAGCGGGGTCTTGGCCAGGA	0.701																																																	0													36	41	39					8																	133492510		2203	4298	6501	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.270G>C	8.37:g.133492510C>G	ENSP00000373648:p.Lys90Asn		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K90N	ENST00000388996.4	37	c.270	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257741	0.39896	.	.	ENSG00000184156	ENST00000388996;ENST00000519445;ENST00000542679	D;D	0.99080	-5.39;-5.4	4.43	4.43	0.53597	.	0.204155	0.32430	N	0.006116	D	0.98463	0.9488	L	0.46819	1.47	0.58432	D	0.999999	D;D	0.64830	0.994;0.994	P;P	0.56960	0.81;0.81	D	0.98389	1.0562	10	0.39692	T	0.17	-9.2255	16.2364	0.82377	0.0:1.0:0.0:0.0	.	90;90	E7ET42;O43525	.;KCNQ3_HUMAN	N	90;90;79	ENSP00000373648:K90N;ENSP00000428790:K90N	ENSP00000373648:K90N	K	-	3	2	KCNQ3	133561692	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	1.858000	0.39408	2.297000	0.77311	0.557000	0.71058	AAG	KCNQ3	-	prints_K_chnl_volt-dep_KCNQ3	ENSG00000184156		0.701	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	86	0	C	NM_004519		133492510	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	10.83	140	17	SNP	1.000	G	G	133492510	C	G	133492510	3	3	34	1	0	0	0	0	1	0	0	0	8111	912	32	5	2408	5	KCNQ3	8	133492510	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	26	133492510	12871512	185	8158			1	10		5	5	107	C		1.199607e-13
KCNQ3	3786	genome.wustl.edu	37	chr8	133492540	133492540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcccgatgccctgcggggtCctccgctgcccctcgtcgcg	2	7	13	19	6	0	0	0	0	0	0	4	1	2	0	6	2	4	1	6	2	0	0	rs587781012		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:133492540C>T	ENST00000388996.4	-	1	660	c.240G>A	c.(238-240)agG>agA	p.R80R	KCNQ3_ENST00000519445.1_Silent_p.R80R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	80					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCTGCGGGGTCCTCCGCTGCC	0.687																																																	0													23	27	26					8																	133492540		2201	4298	6499	SO:0001819	synonymous_variant	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.240G>A	8.37:g.133492540C>T			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R80	ENST00000388996.4	37	c.240	CCDS34943.1	8																																																																																			KCNQ3	-	NULL	ENSG00000184156		0.687	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	65	0	C	NM_004519		133492540	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	silent	10.40	112	13	SNP	1.000	T	T	133492540	C	T	133492540	2	4	34	1	0	0	0	0	0	0	0	1	8111	854	30	3		3	KCNQ3	8	133492540	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	30	133492540	12871482	186	8159			1	10		5	5	107	C		1.199607e-13
ADCK5	203054	genome.wustl.edu	37	chr8	145616376	145616376	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccaggccctcccccacGagctcttccaggagtttgac	7	9	8	17	1	1	1	0	1	1	0	4	3	4	2	5	2	1	2	5	2	0	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:145616376G>T	ENST00000308860.6	+	6	630	c.586G>T	c.(586-588)Gag>Tag	p.E196*	MIR939_ENST00000401314.1_RNA|ADCK5_ENST00000526231.2_3'UTR|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	196	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCTCCCCCACGAGCTCTTCCA	0.627																																																	0													62	61	61					8																	145616376		2203	4300	6503	SO:0001587	stop_gained	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.586G>T	8.37:g.145616376G>T	ENSP00000310547:p.Glu196*		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Nonsense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.E196*	ENST00000308860.6	37	c.586	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949503	0.53186	.	.	ENSG00000173137	ENST00000308860	.	.	.	5.19	0.405	0.16361	.	0.402501	0.25208	N	0.032330	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-25.5086	1.7352	0.02940	0.1657:0.1552:0.5215:0.1576	.	.	.	.	X	196	.	ENSP00000310547:E196X	E	+	1	0	ADCK5	145587184	0.001000	0.12720	0.174000	0.22961	0.970000	0.65996	-0.028000	0.12350	0.049000	0.15920	0.462000	0.41574	GAG	ADCK5	-	pfam_UbiB_dom,superfamily_Kinase-like_dom	ENSG00000173137		0.627	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	-	0	53	0	G	NM_174922		145616376	1	tier1	-	no_errors	ENST00000308860	ensembl	human	known	74_37	nonsense	11.86	52	7	SNP	0.099	T	T	145616376	G	T	145616376	4	4	34	1	0	0	0	0	0	1	0	0	291	1059	37	2	608	2	ADCK5	8	145616376	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	12123836	145616376	747646	187	8160											
ZNF16	7564	genome.wustl.edu	37	chr8	146156613	146156613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggtcttcccacactcGtggcaggcgtagggcttgtc	7	9	12	13	2	1	0	0	0	1	0	4	0	2	0	2	4	0	3	2	4	2	3	rs373394970		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr8:146156613G>T	ENST00000276816.4	-	4	1746	c.1560C>A	c.(1558-1560)caC>caA	p.H520Q	ZNF16_ENST00000394909.2_Missense_Mutation_p.H520Q	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	520					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCCCACACTCGTGGCAGGCGT	0.567																																																	0													94	88	90					8																	146156613		2203	4300	6503	SO:0001583	missense	0			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"Zinc fingers, C2H2-type"	12947	protein-coding gene	gene with protein product		601262	"zinc finger protein 16 (KOX 9)"				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.1560C>A	8.37:g.146156613G>T	ENSP00000276816:p.His520Gln		B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H520Q	ENST00000276816.4	37	c.1560	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	g	0.036	-1.305321	0.01353	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.17528	2.27;2.27	3.59	-7.17	0.01511	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05593	0.0147	N	0.03154	-0.405	0.09310	N	1	B	0.13594	0.008	B	0.16289	0.015	T	0.38908	-0.9639	9	0.56958	D	0.05	.	3.9834	0.09504	0.512:0.2539:0.1426:0.0916	.	520	P17020	ZNF16_HUMAN	Q	520	ENSP00000276816:H520Q;ENSP00000378369:H520Q	ENSP00000276816:H520Q	H	-	3	2	ZNF16	146127417	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-6.633000	0.00059	-2.172000	0.00774	-3.052000	0.00069	CAC	ZNF16	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170631		0.567	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1		0	62	0	G	NM_006958		146156613	-1			no_errors	ENST00000276816	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T	T	146156613	G	T	146156613	3	4	34	1	0	0	0	0	1	0	0	0	17786	1136	40	2	492	2	ZNF16	8	146156613	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	540237	146156613	207409	188	8161											
RFX3	5991	genome.wustl.edu	37	chr9	3247930	3247930	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggctctgaggctgacttgGttaggaaccatggttttaat	8	14	12	7	0	1	2	0	2	1	0	1	3	1	3	1	5	1	4	1	5	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:3247930G>T	ENST00000382004.3	-	16	2280				RFX3_ENST00000302303.1_Missense_Mutation_p.N690K|RFX3_ENST00000358730.2_Missense_Mutation_p.N690K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)						cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N690N(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ggctgacttggttaggaacca	0.383																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											88	91	90					9																	3247930		2203	4300	6503	SO:0001627	intron_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1968+101C>A	9.37:g.3247930G>T			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.N690K	ENST00000382004.3	37	c.2070	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437591	0.25900	.	.	ENSG00000080298	ENST00000358730;ENST00000302303	T;T	0.58358	0.34;0.34	4.38	1.34	0.21922	.	.	.	.	.	T	0.33030	0.0849	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20042	-1.0287	8	0.38643	T	0.18	.	2.4063	0.04414	0.0972:0.1808:0.4066:0.3154	.	690	P48380-2	.	K	690	ENSP00000351574:N690K;ENSP00000303847:N690K	ENSP00000303847:N690K	N	-	3	2	RFX3	3237930	0.008000	0.16893	0.012000	0.15200	0.213000	0.24496	0.385000	0.20685	0.170000	0.19704	0.591000	0.81541	AAC	RFX3	-	NULL	ENSG00000080298		0.383	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1		0	18	0	G	NM_002919		3247930	-1			no_errors	ENST00000302303	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.003	T	T	3247930	G	T	3247930	1	4	34	0	1	0	0	0	0	0	0	0	13309	1252	44	3		3	RFX3	9	3247930	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		3247930	137965501	189	8162											
ERMP1	79956	genome.wustl.edu	37	chr9	5805118	5805118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccacttctcccgaggataGgggtaaacatctcaaatact	14	9	7	11	1	2	0	1	0	2	0	4	2	2	1	2	3	3	1	2	3	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:5805118G>T	ENST00000339450.5	-	10	1912	c.1823C>A	c.(1822-1824)cCt>cAt	p.P608H	ERMP1_ENST00000543230.1_Missense_Mutation_p.P186H|ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	608						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCCGAGGATAGGGGTAAACAT	0.418																																																	0													92	84	87					9																	5805118		2203	4300	6503	SO:0001583	missense	0			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1823C>A	9.37:g.5805118G>T	ENSP00000340427:p.Pro608His		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.P608H	ENST00000339450.5	37	c.1823	CCDS34983.1	9	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600103	0.87055	.	.	ENSG00000099219	ENST00000339450;ENST00000543230	T;T	0.49139	0.79;0.79	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.69557	0.3124	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71027	-0.4711	10	0.87932	D	0	-21.2506	19.8326	0.96642	0.0:0.0:1.0:0.0	.	608	Q7Z2K6	ERMP1_HUMAN	H	608;186	ENSP00000340427:P608H;ENSP00000439368:P186H	ENSP00000340427:P608H	P	-	2	0	ERMP1	5795118	1.000000	0.71417	0.911000	0.35937	0.915000	0.54546	9.476000	0.97823	2.686000	0.91538	0.591000	0.81541	CCT	ERMP1	-	NULL	ENSG00000099219		0.418	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1		0	12	0	G	NM_024896		5805118	-1			no_errors	ENST00000339450	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	5805118	G	T	5805118	3	4	34	1	0	0	0	0	1	0	0	0	5252	1000	35	3	915	3	ERMP1	9	5805118	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2557188	5805118	135408313	190	8163											
C9orf93	203238	genome.wustl.edu	37	chr9	15874582	15874582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaagtaggaatgacttcaCcctacagctacccaaactgc	13	7	8	13	0	1	1	1	1	0	0	1	2	1	2	2	2	5	3	2	2	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:15874582C>T	ENST00000380701.3	+	24	3849	c.3521C>T	c.(3520-3522)aCc>aTc	p.T1174I	CCDC171_ENST00000486641.2_3'UTR|CCDC171_ENST00000297641.3_Missense_Mutation_p.T1174I	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	1174																	AATGACTTCACCCTACAGCTA	0.493																																																	0													144	130	134					9																	15874582		2203	4300	6503	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.3521C>T	9.37:g.15874582C>T	ENSP00000370077:p.Thr1174Ile		B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.T1174I	ENST00000380701.3	37	c.3521	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.47|16.47	3.133231|3.133231	0.56828|0.56828	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000449575;ENST00000432954|ENST00000297641;ENST00000380689;ENST00000380701;ENST00000359391	.|T;T	.|0.15487	.|2.43;2.42	5.74|5.74	4.83|4.83	0.62350|0.62350	.|.	.|0.239502	.|0.35585	.|N	.|0.003109	T|T	0.13415|0.13415	0.0325|0.0325	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.43477	.|0.741;0.808;0.741	.|B;B;B	.|0.40940	.|0.344;0.245;0.344	T|T	0.04976|0.04976	-1.0914|-1.0914	5|10	.|0.72032	.|D	.|0.01	-1.0866|-1.0866	16.7546|16.7546	0.85496|0.85496	0.0:0.8709:0.1291:0.0|0.0:0.8709:0.1291:0.0	.|.	.|1182;441;1174	.|B7ZM22;A6NK04;Q6TFL3	.|.;.;CI093_HUMAN	S|I	414;228|1174;441;1174;28	.|ENSP00000297641:T1174I;ENSP00000370077:T1174I	.|ENSP00000297641:T1174I	P|T	+|+	1|2	0|0	C9orf93|C9orf93	15864582|15864582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.015000|3.015000	0.49599|0.49599	1.406000|1.406000	0.46857|0.46857	0.644000|0.644000	0.83932|0.83932	CCC|ACC	CCDC171	-	NULL	ENSG00000164989		0.493	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	-	0	41	0	C	NM_173550		15874582	1	tier1	-	no_errors	ENST00000380701	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	T	T	15874582	C	T	15874582	3	4	34	1	0	0	0	0	1	0	0	0	2513	507	18	3	3611	3	C9orf93	9	15874582	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	10069464	15874582	125338849	191	8164											
MLLT3	4300	genome.wustl.edu	37	chr9	20413890	20413890	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtcagcagaacaagtGagtatcagtggtggtgcgct	9	13	13	6	1	2	2	2	1	0	1	2	2	2	2	0	2	3	3	0	2	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:20413890G>T	ENST00000380338.4	-	5	1240	c.954C>A	c.(952-954)ctC>ctA	p.L318L	MLLT3_ENST00000355930.6_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.L315L	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	318					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CAGAACAAGTGAGTATCAGTG	0.373			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0													123	123	123					9																	20413890		2203	4300	6503	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.954C>A	9.37:g.20413890G>T			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.L318	ENST00000380338.4	37	c.954	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.373	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0	33	0	G	NM_004529		20413890	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	silent	6.02	78	5	SNP	1.000	T	T	20413890	G	T	20413890	2	4	34	1	0	0	0	0	0	0	0	1	9666	1277	45	3		3	MLLT3	9	20413890	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4539308	20413890	120799541	192	8165											
RECK	8434	genome.wustl.edu	37	chr9	36118794	36118794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgtatgtgggcacaatgGtgagacctacagcagtgtgt	9	9	14	9	1	0	1	0	1	0	1	0	2	0	1	2	2	2	3	2	2	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:36118794G>T	ENST00000377966.3	+	18	2860	c.2294G>T	c.(2293-2295)gGt>gTt	p.G765V		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	765	Kazal-like 3. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G765V(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGGCACAATGGTGAGACCTAC	0.542																																																	1	Substitution - Missense(1)	lung(1)											98	81	87					9																	36118794		2203	4300	6503	SO:0001583	missense	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2294G>T	9.37:g.36118794G>T	ENSP00000367202:p.Gly765Val		B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.G765V	ENST00000377966.3	37	c.2294	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927744	0.73327	.	.	ENSG00000122707	ENST00000377966	T	0.12569	2.67	5.63	5.63	0.86233	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.124148	0.53938	D	0.000054	T	0.42630	0.1211	M	0.85777	2.775	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66716	0.946;0.946	T	0.38950	-0.9637	10	0.87932	D	0	-17.1745	17.5463	0.87863	0.0:0.0:1.0:0.0	.	765;765	A8K9D8;O95980	.;RECK_HUMAN	V	765	ENSP00000367202:G765V	ENSP00000367202:G765V	G	+	2	0	RECK	36108794	1.000000	0.71417	0.930000	0.37139	0.572000	0.35998	7.429000	0.80309	2.826000	0.97356	0.655000	0.94253	GGT	RECK	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000122707		0.542	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1		0	27	0	G			36118794	1			no_errors	ENST00000377966	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	36118794	G	T	36118794	3	4	34	1	0	0	0	0	1	0	0	0	13245	1261	44	3	2364	3	RECK	9	36118794	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	15704904	36118794	105094637	193	8166											
INVS	27130	genome.wustl.edu	37	chr9	103035177	103035177	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattatgctttgcttggtGagcgccatgaagtgatccag	8	14	12	7	1	0	4	0	4	0	0	1	4	1	4	2	1	3	2	2	1	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:103035177G>T	ENST00000262457.2	+	12	1788	c.1603G>T	c.(1603-1605)Gag>Tag	p.E535*	INVS_ENST00000541287.1_Nonsense_Mutation_p.E439*|INVS_ENST00000262456.2_Nonsense_Mutation_p.E535*	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	535					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTTGCTTGGTGAGCGCCATGA	0.428																																																	0													192	183	186					9																	103035177		2203	4300	6503	SO:0001587	stop_gained	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.1603G>T	9.37:g.103035177G>T	ENSP00000262457:p.Glu535*		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.E535*	ENST00000262457.2	37	c.1603	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	G	40	8.306421	0.98752	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	.	.	.	5.67	5.67	0.87782	.	0.093351	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.7704	0.96361	0.0:0.0:1.0:0.0	.	.	.	.	X	535;439;535	.	ENSP00000262456:E535X	E	+	1	0	INVS	102074998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.676000	0.91093	0.561000	0.74099	GAG	INVS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000119509		0.428	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	-	0	71	0	G	NM_014425		103035177	1	tier1	-	no_errors	ENST00000262457	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	103035177	G	T	103035177	4	4	34	1	0	0	0	0	0	1	0	0	7814	1291	45	3	1645	3	INVS	9	103035177	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	66916383	103035177	38178254	194	8167											
IKBKAP	8518	genome.wustl.edu	37	chr9	111640376	111640376	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctgtaattcccttcCttgttcatcaaactcaaaga	10	14	5	12	0	4	1	3	0	1	1	6	1	6	1	3	1	1	2	3	1	3	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:111640376C>A	ENST00000374647.5	-	35	4061	c.3754G>T	c.(3754-3756)Gga>Tga	p.G1252*	IKBKAP_ENST00000467959.1_5'Flank|IKBKAP_ENST00000537196.1_Nonsense_Mutation_p.G903*	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1252					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.G1252*(1)|p.G1252R(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AATTCCCTTCCTTGTTCATCA	0.393																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(1)|kidney(1)											94	92	92					9																	111640376		2203	4300	6503	SO:0001587	stop_gained	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3754G>T	9.37:g.111640376C>A	ENSP00000363779:p.Gly1252*		Q5JSV2|Q9H327|Q9UG87	Nonsense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.G1252*	ENST00000374647.5	37	c.3754	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.636758	0.96693	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	.	.	.	5.53	5.53	0.82687	.	0.292734	0.33382	N	0.004966	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.5692	17.0018	0.86383	0.0:1.0:0.0:0.0	.	.	.	.	X	1252;903	.	ENSP00000363779:G1252X	G	-	1	0	IKBKAP	110680197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.669000	0.68081	2.876000	0.98609	0.643000	0.83706	GGA	IKBKAP	-	pirsf_IKI3	ENSG00000070061		0.393	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1		0	15	0	C			111640376	-1			no_errors	ENST00000374647	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	1.000	A	A	111640376	C	A	111640376	4	1	34	1	0	0	0	0	0	1	0	0	7637	690	24	3	256	3	IKBKAP	9	111640376	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	8605199	111640376	29573055	195	8168											
C9orf84	158401	genome.wustl.edu	37	chr9	114454392	114454392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacatctgactctgaatCactgtggtttagaaaggagt	14	11	10	6	0	3	4	1	2	2	2	3	5	3	5	0	2	0	1	0	2	4	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:114454392C>A	ENST00000318737.4	-	25	3801	c.3673G>T	c.(3673-3675)Gat>Tat	p.D1225Y	C9orf84_ENST00000394779.3_Missense_Mutation_p.D1186Y|C9orf84_ENST00000394777.4_Missense_Mutation_p.D1151Y|C9orf84_ENST00000374287.3_Missense_Mutation_p.D1225Y	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1225										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACTCTGAATCACTGTGGTTT	0.388																																																	0													57	62	60					9																	114454392		2202	4299	6501	SO:0001583	missense	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.3673G>T	9.37:g.114454392C>A	ENSP00000322108:p.Asp1225Tyr		A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	superfamily_RuvA_2-like	p.D1225Y	ENST00000318737.4	37	c.3673	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160622	0.38119	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.12879	2.64;2.72;2.67;2.67	5.25	3.38	0.38709	.	0.372941	0.22864	N	0.054715	T	0.14270	0.0345	L	0.27053	0.805	0.22541	N	0.999002	P;P;P	0.44429	0.835;0.665;0.835	P;P;P	0.49252	0.604;0.604;0.604	T	0.05178	-1.0901	10	0.72032	D	0.01	-4.2284	8.6295	0.33911	0.0:0.7634:0.1528:0.0838	.	1151;1225;1186	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Y	1186;1151;839;1225;1225	ENSP00000378259:D1186Y;ENSP00000378257:D1151Y;ENSP00000363405:D1225Y;ENSP00000322108:D1225Y	ENSP00000322108:D1225Y	D	-	1	0	C9orf84	113494213	0.600000	0.26899	0.138000	0.22173	0.602000	0.36980	0.847000	0.27696	0.688000	0.31529	0.467000	0.42956	GAT	C9orf84	-	NULL	ENSG00000165181		0.388	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2		0	13	0	C	NM_173521		114454392	-1			no_errors	ENST00000318737	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.380	A	A	114454392	C	A	114454392	3	1	34	1	0	0	0	0	1	0	0	0	2507	826	29	3	669	3	C9orf84	9	114454392	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2814016	114454392	26759039	196	8169											
PAPPA	5069	genome.wustl.edu	37	chr9	118974036	118974036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcatctcagaaatccaGtcctgcagtgacccctgcat	10	8	9	14	1	1	2	1	1	1	1	4	3	3	2	4	1	2	3	4	1	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:118974036G>T	ENST00000328252.3	+	4	2112	c.1743G>T	c.(1741-1743)caG>caT	p.Q581H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	581	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAGAAATCCAGTCCTGCAGTG	0.552																																																	0													140	119	126					9																	118974036		2203	4300	6503	SO:0001583	missense	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1743G>T	9.37:g.118974036G>T	ENSP00000330658:p.Gln581His		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.Q581H	ENST00000328252.3	37	c.1743	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843089	0.71488	.	.	ENSG00000182752	ENST00000328252	T	0.01887	4.58	5.64	4.75	0.60458	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.151020	0.64402	D	0.000016	T	0.06917	0.0176	L	0.43923	1.385	0.80722	D	1	D	0.62365	0.991	D	0.63381	0.914	T	0.15838	-1.0423	10	0.87932	D	0	-17.5558	11.4297	0.50032	0.0683:0.1255:0.8062:0.0	.	581	Q13219	PAPP1_HUMAN	H	581	ENSP00000330658:Q581H	ENSP00000330658:Q581H	Q	+	3	2	PAPPA	118013857	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.950000	0.29122	1.531000	0.49152	0.561000	0.74099	CAG	PAPPA	-	pfam_Peptidase_M43	ENSG00000182752		0.552	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1		0	48	0	G	NM_002581		118974036	1			no_errors	ENST00000328252	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	118974036	G	T	118974036	3	4	34	1	0	0	0	0	1	0	0	0	11471	1020	36	3	1757	3	PAPPA	9	118974036	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4519644	118974036	22239395	197	8170											
DNM1	1759	genome.wustl.edu	37	chr9	131016958	131016958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcaggcaagtccatccCgtcctgagagccccaggccc	7	5	12	17	2	1	1	1	1	0	1	4	2	4	1	6	3	1	1	6	3	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:131016958C>T	ENST00000372923.3	+	22	2652	c.2560C>T	c.(2560-2562)Cgt>Tgt	p.R854C	DNM1_ENST00000341179.7_3'UTR|DNM1_ENST00000393594.3_3'UTR|DNM1_ENST00000486160.1_Missense_Mutation_p.R854C	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	854					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGTCCATCCCGTCCTGAGAG	0.587																																					GBM(113;146 1575 2722 28670 29921)												0													71	78	75					9																	131016958		1374	2356	3730	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2560C>T	9.37:g.131016958C>T	ENSP00000362014:p.Arg854Cys		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.R854C	ENST00000372923.3	37	c.2560	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	.	21.6	4.176905	0.78564	.	.	ENSG00000106976	ENST00000372923;ENST00000486160	D;D	0.93488	-3.23;-3.23	5.25	4.35	0.52113	.	0.984460	0.08252	N	0.974504	D	0.91740	0.7388	L	0.55990	1.75	0.44643	D	0.997625	B	0.17268	0.021	B	0.06405	0.002	D	0.84531	0.0633	10	0.72032	D	0.01	.	12.113	0.53850	0.0:0.9203:0.0:0.0797	.	854	Q05193	DYN1_HUMAN	C	854	ENSP00000362014:R854C;ENSP00000420045:R854C	ENSP00000362014:R854C	R	+	1	0	DNM1	130056779	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.562000	0.67346	1.216000	0.43427	-0.142000	0.14014	CGT	DNM1	-	NULL	ENSG00000106976		0.587	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	-	0	71	0	C	NM_004408		131016958	1	tier1	-	no_errors	ENST00000372923	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T	T	131016958	C	T	131016958	3	4	34	1	0	0	0	0	1	0	0	0	4684	652	23	1	2667	1	DNM1	9	131016958	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	12042922	131016958	10196473	198	8171											
NUP188	23511	genome.wustl.edu	37	chr9	131761962	131761962	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtgagaccctccaagagGaagtgattgcactcttcgac	10	10	10	11	1	2	3	0	2	2	2	4	6	3	4	2	1	1	1	2	1	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:131761962G>T	ENST00000372577.2	+	34	3742	c.3721G>T	c.(3721-3723)Gaa>Taa	p.E1241*		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1241					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTCCAAGAGGAAGTGATTGC	0.557																																																	0													89	77	81					9																	131761962		2203	4300	6503	SO:0001587	stop_gained	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3721G>T	9.37:g.131761962G>T	ENSP00000361658:p.Glu1241*		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.E1241*	ENST00000372577.2	37	c.3721	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	43	10.452299	0.99408	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-28.1992	17.8831	0.88846	0.0:0.0:1.0:0.0	.	.	.	.	X	1130;1241	.	ENSP00000349125:E1130X	E	+	1	0	NUP188	130801783	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.827000	0.92041	2.473000	0.83533	0.563000	0.77884	GAA	NUP188	-	NULL	ENSG00000095319		0.557	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2		0	45	0	G			131761962	1			no_errors	ENST00000372577	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	131761962	G	T	131761962	4	4	34	1	0	0	0	0	0	1	0	0	10797	1175	41	3	3855	3	NUP188	9	131761962	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	745004	131761962	9451469	199	8172											
FCN1	2219	genome.wustl.edu	37	chr9	137804889	137804889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctccgtccgtgtccatGtcacagagcacagtcagggg	7	7	11	16	2	2	1	2	0	0	1	5	1	5	1	5	2	1	1	5	2	0	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:137804889G>C	ENST00000371806.3	-	6	532	c.441C>G	c.(439-441)gaC>gaG	p.D147E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	147	A domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCGTGTCCATGTCACAGAGCA	0.662																																																	0													31	32	31					9																	137804889		2202	4296	6498	SO:0001583	missense	0			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"Fibrinogen C domain containing"	3623	protein-coding gene	gene with protein product		601252	"ficolin (collagen/fibrinogen domain-containing) 1"			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.441C>G	9.37:g.137804889G>C	ENSP00000360871:p.Asp147Glu		Q5VYV5|Q92596	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.D147E	ENST00000371806.3	37	c.441	CCDS6985.1	9	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713065	0.48517	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	T	0.26957	1.7	3.39	2.46	0.29980	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.40670	0.1126	L	0.60012	1.86	0.49213	D	0.999763	D	0.69078	0.997	D	0.76575	0.988	T	0.20638	-1.0269	9	0.87932	D	0	.	5.9354	0.19163	0.2505:0.0:0.7495:0.0	.	147	O00602	FCN1_HUMAN	E	147;147;135	ENSP00000360871:D147E	ENSP00000308877:D135E	D	-	3	2	FCN1	136944710	1.000000	0.71417	0.998000	0.56505	0.394000	0.30568	2.823000	0.48081	0.719000	0.32188	0.549000	0.68633	GAC	FCN1	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000085265		0.662	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN1	HGNC	protein_coding	OTTHUMT00000054963.1	-	0	203	0	G	NM_002003		137804889	-1	tier1	-	no_errors	ENST00000371806	ensembl	human	known	74_37	missense	58.59	53	75	SNP	1.000	C	C	137804889	G	C	137804889	3	2	34	1	0	0	0	0	1	0	0	0	5813	1368	48	5	555	5	FCN1	9	137804889	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6042927	137804889	3408542	200	8173											
SNAPC4	6621	genome.wustl.edu	37	chr9	139272097	139272097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcactctcagagcccaccctCgaaggtactgagagggtggt	9	8	12	12	1	2	2	2	1	1	2	4	4	2	2	2	3	2	1	2	3	2	1	rs533786159		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr9:139272097C>T	ENST00000298532.2	-	21	4550	c.4182G>A	c.(4180-4182)tcG>tcA	p.S1394S		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGCCCACCCTCGAAGGTACTG	0.662																																																	0													25	28	27					9																	139272097		2200	4294	6494	SO:0001819	synonymous_variant	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.4182G>A	9.37:g.139272097C>T				Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1394	ENST00000298532.2	37	c.4182	CCDS6998.1	9																																																																																			SNAPC4	-	NULL	ENSG00000165684		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	-	0	94	0	C	NM_003086		139272097	-1	tier1	-	no_errors	ENST00000298532	ensembl	human	known	74_37	silent	68.33	19	41	SNP	0.000	T	T	139272097	C	T	139272097	2	4	34	1	0	0	0	0	0	0	0	1	14882	871	31	1		1	SNAPC4	9	139272097	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1467208	139272097	1941334	201	8174											
C10orf18	54906	genome.wustl.edu	37	chr10	5766427	5766427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttcaatttgtatgaGgtagaactgtcaaacagaca	13	13	9	6	0	2	3	2	1	0	2	2	3	2	3	0	1	3	3	0	1	5	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:5766427G>T	ENST00000328090.5	+	8	907	c.282G>T	c.(280-282)gaG>gaT	p.E94D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	94																	ATTTGTATGAGGTAGAACTGT	0.269																																																	0													61	62	62					10																	5766427		1787	4041	5828	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.282G>T	10.37:g.5766427G>T	ENSP00000328426:p.Glu94Asp		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.E94D	ENST00000328090.5	37	c.282	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907829	0.52333	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.19105	2.17	5.78	-1.45	0.08828	.	0.102269	0.42821	N	0.000643	T	0.18882	0.0453	M	0.65975	2.015	0.26075	N	0.981161	B	0.29162	0.235	B	0.32465	0.146	T	0.15009	-1.0452	10	0.52906	T	0.07	.	4.6965	0.12806	0.5591:0.0:0.278:0.1629	.	94	Q5VWN6	F208B_HUMAN	D	94	ENSP00000328426:E94D	ENSP00000328426:E94D	E	+	3	2	C10orf18	5806433	0.973000	0.33851	0.970000	0.41538	0.989000	0.77384	0.001000	0.13038	-0.128000	0.11641	0.650000	0.86243	GAG	FAM208B	-	pfam_DUF3699	ENSG00000108021		0.269	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	-	0	29	0	G	NM_017782		5766427	1	tier1	-	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	5.15	129	7	SNP	0.985	T	T	5766427	G	T	5766427	3	4	34	1	0	0	0	0	1	0	0	0	1601	991	35	3	300	3	C10orf18	10	5766427	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		5766427	129768320	202	8175											
FRMD4A	55691	genome.wustl.edu	37	chr10	13699267	13699267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcgccttggacggcgaGtcctcggccagcgtggagta	5	7	17	12	6	0	0	0	0	0	0	2	3	1	2	3	5	1	1	3	5	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:13699267G>T	ENST00000357447.2	-	22	2690	c.2322C>A	c.(2320-2322)gaC>gaA	p.D774E	FRMD4A_ENST00000378503.1_Missense_Mutation_p.D774E|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D759E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	774					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGACGGCGAGTCCTCGGCCA	0.711																																																	0													34	30	31					10																	13699267		2202	4297	6499	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2322C>A	10.37:g.13699267G>T	ENSP00000350032:p.Asp774Glu		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.D774E	ENST00000357447.2	37	c.2322	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659535	0.67586	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.87029	-2.19;-2.2;-2.2	5.11	5.11	0.69529	.	0.042090	0.85682	D	0.000000	D	0.90167	0.6927	L	0.58101	1.795	0.51012	D	0.999909	D	0.76494	0.999	D	0.66196	0.942	D	0.90197	0.4254	10	0.66056	D	0.02	-28.3565	8.8178	0.35007	0.2134:0.0:0.7866:0.0	.	774	Q9P2Q2	FRM4A_HUMAN	E	759;774;774	ENSP00000351438:D759E;ENSP00000350032:D774E;ENSP00000367764:D774E	ENSP00000350032:D774E	D	-	3	2	FRMD4A	13739273	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.082000	0.50128	2.353000	0.79882	0.436000	0.28706	GAC	FRMD4A	-	NULL	ENSG00000151474		0.711	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	98	0	G	NM_018027		13699267	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	13699267	G	T	13699267	3	4	34	1	0	0	0	0	1	0	0	0	6075	1020	36	3	809	3	FRMD4A	10	13699267	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7932840	13699267	121835480	203	8176											
RET	5979	genome.wustl.edu	37	chr10	43609092	43609092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcttccctgaggaggaGaagtgcttctgcgagcccga	9	8	13	11	2	1	2	0	1	1	1	2	6	2	3	2	2	5	2	2	2	2	2	rs121913313		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:43609092G>T	ENST00000355710.3	+	10	2080	c.1848G>T	c.(1846-1848)gaG>gaT	p.E616D	RET_ENST00000340058.5_Missense_Mutation_p.E616D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	616					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F612_C620del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGAGGAGGAGAAGTGCTTCT	0.642		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	1	Deletion - In frame(1)	thyroid(1)											41	41	41					10																	43609092		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1848G>T	10.37:g.43609092G>T	ENSP00000347942:p.Glu616Asp		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.E616D	ENST00000355710.3	37	c.1848	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350943	0.24512	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98381	-1.08;-4.9;-1.2	4.92	4.92	0.64577	.	0.523192	0.19056	N	0.123889	D	0.93125	0.7811	N	0.08118	0	0.22435	N	0.999101	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.10450	0.002;0.002;0.005	T	0.83158	-0.0100	10	0.14656	T	0.56	.	11.917	0.52771	0.0:0.0:0.8259:0.174	.	362;616;616	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	D	616;133;616	ENSP00000347942:E616D;ENSP00000419080:E133D;ENSP00000344798:E616D	ENSP00000344798:E616D	E	+	3	2	RET	42929098	1.000000	0.71417	0.999000	0.59377	0.592000	0.36648	3.074000	0.50065	2.284000	0.76573	0.563000	0.77884	GAG	RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2		0	134	0	G	NM_020975		43609092	1			no_errors	ENST00000355710	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.999	T	T	43609092	G	T	43609092	3	4	34	1	0	0	0	0	1	0	0	0	13280	933	33	3	1886	3	RET	10	43609092	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	29909825	43609092	91925655	204	8177											
C10orf53	282966	genome.wustl.edu	37	chr10	50916525	50916525	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacagttcccacaaaagacCcaggacctgacttgtactgt	13	8	7	13	0	0	2	0	1	0	1	1	3	1	3	3	1	2	2	3	1	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:50916525C>A	ENST00000374112.3	+	3	348	c.336C>A	c.(334-336)acC>acA	p.T112T	C10orf53_ENST00000535836.1_Silent_p.T112T	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				cacaaaagacccaggacctga	0.502																																																	0													170	162	165					10																	50916525		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.336C>A	10.37:g.50916525C>A			A6NI81|A6NLE0|B9ZVK6	Silent	SNP	NULL	p.T112	ENST00000374112.3	37	c.336	CCDS31202.1	10																																																																																			C10orf53	-	NULL	ENSG00000178645		0.502	C10orf53-003	KNOWN	basic|CCDS	protein_coding	C10orf53	HGNC	protein_coding	OTTHUMT00000048006.1		0	43	0	C	NM_182554		50916525	1			no_errors	ENST00000374112	ensembl	human	known	74_37	silent	5.68	83	5	SNP	0.000	A	A	50916525	C	A	50916525	2	1	34	1	0	0	0	0	0	0	0	1	1611	610	22	3		3	C10orf53	10	50916525	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	7307433	50916525	84618222	205	8178											
OGDHL	55753	genome.wustl.edu	37	chr10	50966616	50966616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaccccaagacgggacGgcagcagcctcagctgactc	9	5	11	16	2	1	2	1	1	0	1	2	3	1	3	4	2	4	4	4	2	2	1	rs200629482	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:50966616G>T	ENST00000374103.4	-	2	108	c.23C>A	c.(22-24)cCg>cAg	p.P8Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.P8Q|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	8					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAGACGGGACGGCAGCAGCCT	0.622																																																	0													36	36	36					10																	50966616		2203	4299	6502	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.23C>A	10.37:g.50966616G>T	ENSP00000363216:p.Pro8Gln		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.P8Q	ENST00000374103.4	37	c.23	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	g	11.52	1.662781	0.29515	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.05786	3.46;3.39	5.91	2.96	0.34315	.	0.472378	0.22349	N	0.061223	T	0.02767	0.0083	N	0.08118	0	0.80722	D	1	B;P	0.38617	0.052;0.64	B;B	0.29942	0.066;0.109	T	0.58008	-0.7712	10	0.45353	T	0.12	.	7.5131	0.27585	0.2874:0.0:0.7126:0.0	.	8;8	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	Q	8	ENSP00000363216:P8Q;ENSP00000401356:P8Q	ENSP00000363216:P8Q	P	-	2	0	OGDHL	50636622	0.015000	0.18098	0.218000	0.23776	0.325000	0.28411	0.297000	0.19101	0.342000	0.23796	-0.119000	0.15052	CCG	OGDHL	-	NULL	ENSG00000197444		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1		0	106	0	G	NM_018245		50966616	-1			no_errors	ENST00000374103	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.909	T	T	50966616	G	T	50966616	3	4	34	1	0	0	0	0	1	0	0	0	10879	1116	39	2	3097	2	OGDHL	10	50966616	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	50091	50966616	84568131	206	8179											
CDK1	983	genome.wustl.edu	37	chr10	62552031	62552031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaaacttggatgaaaatgGcttggatttgctctcggtaa	13	12	10	6	1	1	1	0	1	1	0	2	3	1	3	0	4	2	3	0	4	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:62552031G>T	ENST00000395284.3	+	7	921	c.779G>T	c.(778-780)gGc>gTc	p.G260V	CDK1_ENST00000448257.2_Missense_Mutation_p.G260V|CDK1_ENST00000373809.2_Missense_Mutation_p.G203V|CDK1_ENST00000316629.4_Missense_Mutation_p.G203V	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						GATGAAAATGGCTTGGATTTG	0.383																																																	0													95	94	94					10																	62552031		2203	4300	6503	SO:0001583	missense	0			BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"Cyclin-dependent kinases"	1722	protein-coding gene	gene with protein product		116940	"cell division cycle 2, G1 to S and G2 to M"	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.779G>T	10.37:g.62552031G>T	ENSP00000378699:p.Gly260Val		A8K7C4|C9J497|O60764	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G260V	ENST00000395284.3	37	c.779	CCDS44408.1	10	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266202	0.80358	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046411	0.85682	D	0.000000	T	0.69886	0.3161	N	0.20401	0.57	0.80722	D	1	D;D;D	0.76494	0.981;0.999;0.996	P;D;D	0.72075	0.899;0.976;0.952	T	0.72978	-0.4127	10	0.87932	D	0	-19.6892	20.5407	0.99260	0.0:0.0:1.0:0.0	.	203;266;260	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	V	260;203;260;203	ENSP00000378699:G260V;ENSP00000325970:G203V;ENSP00000397973:G260V;ENSP00000362915:G203V	ENSP00000325970:G203V	G	+	2	0	CDK1	62222037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.904000	0.87408	2.865000	0.98341	0.655000	0.94253	GGC	CDK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000170312		0.383	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CDK1	HGNC	protein_coding	OTTHUMT00000048211.2		0	20	0	G	NM_001786		62552031	1			no_errors	ENST00000395284	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	62552031	G	T	62552031	3	4	34	1	0	0	0	0	1	0	0	0	3131	1203	42	3	813	3	CDK1	10	62552031	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	11585415	62552031	72982716	207	8180											
JMJD1C	221037	genome.wustl.edu	37	chr10	64973574	64973574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacagcatggtgtggacCactagtcagaggatgagtgt	12	9	14	6	0	1	3	1	2	0	1	1	5	1	5	1	3	2	1	1	3	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:64973574C>A	ENST00000399262.2	-	8	2571	c.2353G>T	c.(2353-2355)Ggt>Tgt	p.G785C	JMJD1C_ENST00000402544.1_Missense_Mutation_p.G566C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.G603C|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Missense_Mutation_p.G566C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	785					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGGTGTGGACCACTAGTCAGA	0.502																																																	0													88	82	84					10																	64973574		2137	4246	6383	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.2353G>T	10.37:g.64973574C>A	ENSP00000382204:p.Gly785Cys		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G785C	ENST00000399262.2	37	c.2353	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365948	0.41902	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.54	3.67	0.42095	.	0.274210	0.32987	N	0.005401	T	0.45915	0.1366	N	0.22421	0.69	0.29869	N	0.827014	D;D	0.59357	0.985;0.98	P;P	0.55161	0.77;0.62	T	0.45977	-0.9224	10	0.45353	T	0.12	-11.2029	12.867	0.57946	0.0:0.8659:0.0:0.134	.	785;603	Q15652;A0T124	JHD2C_HUMAN;.	C	785;566;566;603	ENSP00000382204:G785C;ENSP00000384990:G566C;ENSP00000382195:G566C;ENSP00000444682:G603C	ENSP00000382195:G566C	G	-	1	0	JMJD1C	64643580	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	0.623000	0.24447	1.593000	0.50029	-0.123000	0.14984	GGT	JMJD1C	-	NULL	ENSG00000171988		0.502	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2		0	16	0	C	NM_004241		64973574	-1			no_errors	ENST00000399262	ensembl	human	known	74_37	missense	8.33	43	4	SNP	1.000	A	A	64973574	C	A	64973574	3	1	34	1	0	0	0	0	1	0	0	0	7977	594	21	3	5345	3	JMJD1C	10	64973574	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2421543	64973574	70561173	208	8181											
CTNNA3	29119	genome.wustl.edu	37	chr10	69281668	69281668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttctggtaggttttctGgaggtcagatttgttggcaa	8	15	13	5	0	3	1	1	0	2	1	3	2	3	2	0	5	1	5	0	5	3	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:69281668G>T	ENST00000433211.2	-	5	685	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q171K|CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q171K	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TAGGTTTTCTGGAGGTCAGAT	0.408																																																	0													108	107	107					10																	69281668		2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.511C>A	10.37:g.69281668G>T	ENSP00000389714:p.Gln171Lys			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.Q171K	ENST00000433211.2	37	c.511	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	5.169	0.216661	0.09810	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309;ENST00000330298;ENST00000540598	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.19	4.28	0.50868	.	0.000000	0.49916	D	0.000134	T	0.29355	0.0731	L	0.34521	1.04	0.27101	N	0.96262	B;B;B;B	0.20052	0.0;0.001;0.026;0.041	B;B;B;B	0.28385	0.001;0.003;0.089;0.016	T	0.25012	-1.0144	10	0.06099	T	0.92	-10.6348	11.1157	0.48259	0.0:0.0:0.8151:0.1849	.	171;171;171;171	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	K	171	ENSP00000389714:Q171K;ENSP00000362849:Q171K;ENSP00000441444:Q171K;ENSP00000330570:Q171K	ENSP00000330570:Q171K	Q	-	1	0	CTNNA3	68951674	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.093000	0.50217	1.174000	0.42811	0.467000	0.42956	CAG	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.408	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2		0	17	0	G	NM_013266		69281668	-1			no_errors	ENST00000373744	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	69281668	G	T	69281668	3	4	34	1	0	0	0	0	1	0	0	0	4023	1357	47	3	2232	3	CTNNA3	10	69281668	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4308094	69281668	66253079	209	8182											
SLC29A3	55315	genome.wustl.edu	37	chr10	73082627	73082627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagctgctggaccgccCgccccctggcctgcagaggc	6	5	14	16	2	0	2	0	1	0	2	0	4	0	3	5	3	3	3	5	3	1	0	rs368939297		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:73082627C>T	ENST00000373189.5	+	2	168	c.116C>T	c.(115-117)cCg>cTg	p.P39L	snoU13_ENST00000459444.1_RNA	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	39					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGGACCGCCCGCCCCCTGGC	0.572																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													80	84	83					10																	73082627		2203	4300	6503	SO:0001583	missense	0			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.116C>T	10.37:g.73082627C>T	ENSP00000362285:p.Pro39Leu		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.P39L	ENST00000373189.5	37	c.116	CCDS7310.1	10	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972152	0.53614	.	.	ENSG00000198246	ENST00000373189	T	0.58652	0.32	5.23	-0.0703	0.13748	.	1.209750	0.05757	N	0.604242	T	0.54581	0.1867	M	0.79123	2.44	0.27819	N	0.941852	B	0.22541	0.071	B	0.09377	0.004	T	0.50303	-0.8844	9	0.66056	D	0.02	-12.5188	3.4222	0.07397	0.3284:0.4516:0.1256:0.0944	.	39	Q9BZD2	S29A3_HUMAN	L	39	ENSP00000362285:P39L	ENSP00000362285:P39L	P	+	2	0	SLC29A3	72752633	0.155000	0.22806	0.001000	0.08648	0.080000	0.17528	1.000000	0.29770	0.199000	0.20427	-0.355000	0.07637	CCG	SLC29A3	-	NULL	ENSG00000198246		0.572	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1	-	0	70	0	C	NM_018344		73082627	1	tier1	-	no_errors	ENST00000373189	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.003	T	T	73082627	C	T	73082627	3	4	34	1	0	0	0	0	1	0	0	0	14581	652	23	1	122	1	SLC29A3	10	73082627	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	3800959	73082627	62452120	210	8183											
NRG3	10718	genome.wustl.edu	37	chr10	83635710	83635710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgttcttcagtagcagcaCgctgggctcccgacccccgg	5	7	11	18	4	2	0	1	0	1	0	3	1	3	0	4	2	2	6	4	2	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:83635710C>T	ENST00000404547.1	+	1	614	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.T205M|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	205	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGTAGCAGCACGCTGGGCTCC	0.677																																																	0													51	52	52					10																	83635710		2203	4300	6503	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.614C>T	10.37:g.83635710C>T	ENSP00000384796:p.Thr205Met		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.T205M	ENST00000404547.1	37	c.614	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662589	0.29515	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.32753	1.44;1.44	3.41	3.41	0.39046	.	0.839391	0.09868	U	0.745268	T	0.24547	0.0595	N	0.22421	0.69	0.80722	D	1	B;B	0.33748	0.423;0.423	B;B	0.34590	0.186;0.186	T	0.10917	-1.0609	10	0.51188	T	0.08	-11.1467	12.7368	0.57230	0.0:1.0:0.0:0.0	.	205;205	B9EGV5;P56975-4	.;.	M	205	ENSP00000361214:T205M;ENSP00000384796:T205M	ENSP00000361214:T205M	T	+	2	0	NRG3	83625690	0.977000	0.34250	0.949000	0.38748	0.887000	0.51463	0.917000	0.28665	1.920000	0.55613	0.478000	0.44815	ACG	NRG3	-	NULL	ENSG00000185737		0.677	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0	192	0	C	XM_166086		83635710	1	tier1	-	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	24.51	77	25	SNP	0.950	T	T	83635710	C	T	83635710	3	4	34	1	0	0	0	0	1	0	0	0	10688	536	19	1	616	1	NRG3	10	83635710	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	10553083	83635710	51899037	211	8184											
PLCE1	51196	genome.wustl.edu	37	chr10	96084118	96084118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagaccttatgcaaaGccaaatattcctacagcatc	13	11	4	13	0	1	1	1	0	0	1	3	1	2	1	4	0	4	2	4	0	5	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:96084118G>A	ENST00000371380.3	+	30	6749	c.6514G>A	c.(6514-6516)Gcc>Acc	p.A2172T	PLCE1_ENST00000260766.3_Missense_Mutation_p.A2172T|PLCE1_ENST00000371375.1_Missense_Mutation_p.A1864T|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.A1864T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2172	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTATGCAAAGCCAAATATTC	0.393																																																	0													198	195	196					10																	96084118		1904	4127	6031	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6514G>A	10.37:g.96084118G>A	ENSP00000360431:p.Ala2172Thr		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.A2172T	ENST00000371380.3	37	c.6514	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.387787	0.95988	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.81	5.81	0.92471	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.37244	-0.9714	10	0.87932	D	0	.	19.6886	0.95989	0.0:0.0:1.0:0.0	.	2156;1864;2172	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	2172;2172;1864;1864	ENSP00000260766:A2172T;ENSP00000360431:A2172T;ENSP00000360438:A1864T;ENSP00000360426:A1864T	ENSP00000260766:A2172T	A	+	1	0	PLCE1	96074108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.434000	0.97515	2.746000	0.94184	0.655000	0.94253	GCC	PLCE1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000138193		0.393	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	21	0	G	NM_016341		96084118	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	82.61	8	38	SNP	1.000	A	A	96084118	G	A	96084118	3	1	34	1	0	0	0	0	1	0	0	0	12073	971	34	3	6918	3	PLCE1	10	96084118	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	12448408	96084118	39450629	212	8185											
DNTT	1791	genome.wustl.edu	37	chr10	98092319	98092319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcccctacgagcgtcGtgcctttgccctgttgggat	3	13	12	13	3	1	0	0	0	1	0	2	2	1	1	4	1	5	1	4	1	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:98092319G>A	ENST00000371174.2	+	9	1427	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	DNTT_ENST00000419175.1_Missense_Mutation_p.R442H			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	442	Mediates interaction with DNTTIP2.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TACGAGCGTCGTGCCTTTGCC	0.557																																																	0													212	180	191					10																	98092319		2203	4300	6503	SO:0001583	missense	0			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"DNA polymerases"	2983	protein-coding gene	gene with protein product	"Terminal deoxynucleotidyltransferase"	187410	"deoxynucleotidyltransferase, terminal"				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1325G>A	10.37:g.98092319G>A	ENSP00000360216:p.Arg442His		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.R442H	ENST00000371174.2	37	c.1325	CCDS7447.1	10	.	.	.	.	.	.	.	.	.	.	G	9.821	1.185840	0.21870	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.42513	0.97;0.97	5.81	-4.48	0.03515	DNA-directed DNA polymerase X (1);	0.397181	0.28677	N	0.014519	T	0.32852	0.0843	L	0.55481	1.735	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.04013	0.001;0.001	T	0.25328	-1.0135	10	0.39692	T	0.17	-3.0545	13.8136	0.63278	0.7815:0.0:0.2185:0.0	.	442;442	P04053-2;P04053	.;TDT_HUMAN	H	442	ENSP00000401169:R442H;ENSP00000360216:R442H	ENSP00000360216:R442H	R	+	2	0	DNTT	98082309	0.027000	0.19231	0.000000	0.03702	0.395000	0.30598	0.647000	0.24812	-0.707000	0.05022	-0.150000	0.13652	CGT	DNTT	-	smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu	ENSG00000107447		0.557	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNTT	HGNC	protein_coding	OTTHUMT00000049607.1	-	0	63	0	G	NM_004088		98092319	1	tier1	-	no_errors	ENST00000371174	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.000	A	A	98092319	G	A	98092319	3	1	34	1	0	0	0	0	1	0	0	0	4694	1145	40	1	1359	1	DNTT	10	98092319	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2008201	98092319	37442428	213	8186											
SLIT1	6585	genome.wustl.edu	37	chr10	98764553	98764553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccccgttgtacagaaGgatcccattgtcctctgccg	6	12	10	13	2	1	1	0	0	1	1	4	2	4	2	5	1	2	3	5	1	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:98764553G>T	ENST00000266058.4	-	33	3852	c.3607C>A	c.(3607-3609)Ctt>Att	p.L1203I	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L1203I	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1203	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGTACAGAAGGATCCCATTG	0.602																																																	0													258	184	209					10																	98764553		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3607C>A	10.37:g.98764553G>T	ENSP00000266058:p.Leu1203Ile		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1203I	ENST00000266058.4	37	c.3607	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974471	0.74246	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.87256	-2.23;-2.23	4.6	2.75	0.32379	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	M	0.62209	1.925	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.89745	0.3936	10	0.56958	D	0.05	.	10.779	0.46367	0.1555:0.0:0.8445:0.0	.	1203	O75093	SLIT1_HUMAN	I	1203	ENSP00000266058:L1203I;ENSP00000360109:L1203I	ENSP00000266058:L1203I	L	-	1	0	SLIT1	98754543	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	6.448000	0.73469	0.568000	0.29311	-0.300000	0.09419	CTT	SLIT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000187122		0.602	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0	104	0	G	NM_003061		98764553	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	98764553	G	T	98764553	3	4	34	1	0	0	0	0	1	0	0	0	14784	1000	35	3	1017	3	SLIT1	10	98764553	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	672234	98764553	36770194	214	8187											
CPN1	1369	genome.wustl.edu	37	chr10	101808606	101808606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtagatacctggaagcAgcagccggaagtaatcacca	14	6	11	10	1	1	1	1	0	0	1	1	3	1	3	3	2	4	4	3	2	5	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:101808606A>G	ENST00000370418.3	-	8	1390	c.1139T>C	c.(1138-1140)cTg>cCg	p.L380P		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	380					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACCTGGAAGCAGCAGCCGGAA	0.463																																																	0													135	114	122					10																	101808606		2203	4300	6503	SO:0001583	missense	0			X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"anaphylatoxin inactivator", "arginine carboxypeptidase", "carboxypeptidase K", "kininase I", "lysine carboxypeptidase"	603103	"carboxypeptidase N, polypeptide 1, 50kD"			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1139T>C	10.37:g.101808606A>G	ENSP00000359446:p.Leu380Pro		B1AP59	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.L380P	ENST00000370418.3	37	c.1139	CCDS7486.1	10	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360604	0.82353	.	.	ENSG00000120054	ENST00000370418;ENST00000441382	T;T	0.59083	0.29;0.29	5.5	5.5	0.81552	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.153474	0.44097	D	0.000493	D	0.85168	0.5635	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90828	0.4714	10	0.87932	D	0	-11.3079	14.6282	0.68638	1.0:0.0:0.0:0.0	.	380	P15169	CBPN_HUMAN	P	380;177	ENSP00000359446:L380P;ENSP00000410895:L177P	ENSP00000359446:L380P	L	-	2	0	CPN1	101798596	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.013000	0.88655	2.097000	0.63578	0.524000	0.50904	CTG	CPN1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000120054		0.463	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPN1	HGNC	protein_coding	OTTHUMT00000049828.1		0	48	0	A	NM_001308		101808606	-1			no_errors	ENST00000370418	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	G	G	101808606	A	G	101808606	3	3	34	1	0	0	0	0	1	0	0	0	3816	188	7	4	245	4	CPN1	10	101808606	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	3044053	101808606	33726141	215	8188											
SEMA4G	57715	genome.wustl.edu	37	chr10	102740951	102740951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatacaggacatagagaGaggaaatcgaggctgtgaga	16	6	14	5	1	0	4	0	2	0	3	1	9	0	6	0	3	1	1	0	3	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:102740951G>T	ENST00000370250.4	+	13	2028	c.1655G>T	c.(1654-1656)aGa>aTa	p.R552I	MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Missense_Mutation_p.R557I|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Missense_Mutation_p.R557I|MRPL43_ENST00000318325.2_Intron|RP11-108L7.4_ENST00000447344.1_RNA	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	552	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R557T(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GACATAGAGAGAGGAAATCGA	0.483																																																	1	Substitution - Missense(1)	breast(1)											142	115	124					10																	102740951		2203	4300	6503	SO:0001583	missense	0			AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1655G>T	10.37:g.102740951G>T	ENSP00000359270:p.Arg552Ile		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.R557I	ENST00000370250.4	37	c.1670		10	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568081	0.65651	.	.	ENSG00000095539	ENST00000370250;ENST00000517724;ENST00000210633	T;T;T	0.21361	2.01;2.16;2.19	5.25	5.25	0.73442	.	1.202780	0.05668	N	0.588204	T	0.26593	0.0650	L	0.57536	1.79	0.47621	D	0.999471	B;B	0.30146	0.27;0.128	B;B	0.32211	0.142;0.103	T	0.07635	-1.0762	10	0.21540	T	0.41	.	11.3227	0.49433	0.0834:0.0:0.9166:0.0	.	557;557	A1A5C6;Q9NTN9-2	.;.	I	552;557;557	ENSP00000359270:R552I;ENSP00000430175:R557I;ENSP00000210633:R557I	ENSP00000210633:R557I	R	+	2	0	SEMA4G	102730941	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.118000	0.41949	2.441000	0.82636	0.305000	0.20034	AGA	SEMA4G	-	superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000095539		0.483	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2		0	17	0	G			102740951	1			no_errors	ENST00000210633	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.998	T	T	102740951	G	T	102740951	3	4	34	1	0	0	0	0	1	0	0	0	14081	942	33	3	1720	3	SEMA4G	10	102740951	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	932345	102740951	32793796	216	8189											
SORCS1	114815	genome.wustl.edu	37	chr10	108459130	108459130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgaacacctgattctcatCggtgctgataacatgcatgt	10	12	9	10	2	1	2	1	2	1	0	3	3	1	2	1	1	5	2	1	1	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:108459130C>T	ENST00000263054.6	-	9	1262	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	SORCS1_ENST00000344440.6_Missense_Mutation_p.D419N|SORCS1_ENST00000369698.1_5'Flank	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	419					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.D419Y(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGATTCTCATCGGTGCTGATA	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											183	146	158					10																	108459130		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1255G>A	10.37:g.108459130C>T	ENSP00000263054:p.Asp419Asn		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.D419N	ENST00000263054.6	37	c.1255	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124842	0.77436	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.21031	2.03;2.03	6.06	6.06	0.98353	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.41356	1.27	0.54753	D	0.999988	B;P;P;B;P	0.36378	0.146;0.55;0.55;0.146;0.55	B;B;B;B;B	0.38500	0.048;0.275;0.179;0.081;0.275	T	0.00870	-1.1533	9	.	.	.	-21.8491	20.6397	0.99537	0.0:1.0:0.0:0.0	.	419;419;419;419;419	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	N	419	ENSP00000263054:D419N;ENSP00000345964:D419N	.	D	-	1	0	SORCS1	108449120	1.000000	0.71417	0.998000	0.56505	0.817000	0.46193	7.433000	0.80362	2.880000	0.98712	0.650000	0.86243	GAT	SORCS1	-	smart_VPS10	ENSG00000108018		0.468	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	40	0	C	NM_052918		108459130	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	46.38	37	32	SNP	1.000	T	T	108459130	C	T	108459130	3	4	34	1	0	0	0	0	1	0	0	0	14975	884	31	1	2557	1	SORCS1	10	108459130	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	5718179	108459130	27075617	217	8190											
SORCS1	114815	genome.wustl.edu	37	chr10	108589380	108589380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatagctcaaaatggttttCaaaccaactttatcattcag	15	13	5	8	0	4	1	4	0	0	1	4	1	4	1	1	1	3	2	1	1	6	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:108589380C>T	ENST00000263054.6	-	3	685	c.678G>A	c.(676-678)ttG>ttA	p.L226L	SORCS1_ENST00000344440.6_Silent_p.L226L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	226					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAATGGTTTTCAAACCAACTT	0.363																																																	0													177	163	168					10																	108589380		2203	4300	6503	SO:0001819	synonymous_variant	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.678G>A	10.37:g.108589380C>T			A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.L226	ENST00000263054.6	37	c.678	CCDS7559.1	10																																																																																			SORCS1	-	smart_VPS10	ENSG00000108018		0.363	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	18	0	C	NM_052918		108589380	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	silent	23.26	66	20	SNP	1.000	T	T	108589380	C	T	108589380	2	4	34	1	0	0	0	0	0	0	0	1	14975	825	29	3		3	SORCS1	10	108589380	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	130250	108589380	26945367	218	8191											
WDR11	55717	genome.wustl.edu	37	chr10	122630715	122630715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggaagaacatcccaGaggttcaattctgcgggaag	11	8	14	8	1	2	2	1	0	1	2	3	4	3	4	1	4	3	2	1	4	4	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr10:122630715G>T	ENST00000263461.6	+	10	1574	c.1328G>T	c.(1327-1329)aGa>aTa	p.R443I		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAACATCCCAGAGGTTCAATT	0.433																																																	0													85	77	80					10																	122630715		2203	4300	6503	SO:0001583	missense	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1328G>T	10.37:g.122630715G>T	ENSP00000263461:p.Arg443Ile		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R443I	ENST00000263461.6	37	c.1328	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	G	8.167	0.790844	0.16258	.	.	ENSG00000120008	ENST00000263461	D	0.90324	-2.65	5.38	1.02	0.19986	.	0.454722	0.25798	N	0.028238	T	0.74891	0.3776	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.14023	0.01	T	0.60141	-0.7321	10	0.18710	T	0.47	-11.8879	5.3604	0.16085	0.5943:0.1487:0.2571:0.0	.	443	Q9BZH6	WDR11_HUMAN	I	443	ENSP00000263461:R443I	ENSP00000263461:R443I	R	+	2	0	WDR11	122620705	0.005000	0.15991	0.999000	0.59377	0.310000	0.27922	0.312000	0.19397	0.333000	0.23563	-0.438000	0.05819	AGA	WDR11	-	NULL	ENSG00000120008		0.433	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2		0	29	0	G			122630715	1			no_errors	ENST00000263461	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.003	T	T	122630715	G	T	122630715	3	4	34	1	0	0	0	0	1	0	0	0	17322	942	33	3	1366	3	WDR11	10	122630715	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	14041335	122630715	12904032	219	8192											
LSP1	4046	genome.wustl.edu	37	chr11	1908055	1908055	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcggtgggagacgggtGaggtacaggctcagtctgcg	8	7	19	7	3	2	3	1	1	1	2	3	4	2	3	0	5	2	2	0	5	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:1908055G>T	ENST00000311604.3	+	8	986	c.811G>T	c.(811-813)Gag>Tag	p.E271*	LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000406638.2_Nonsense_Mutation_p.E209*|LSP1_ENST00000405957.2_Nonsense_Mutation_p.E209*|LSP1_ENST00000381775.1_Nonsense_Mutation_p.E399*	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	271					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGAGACGGGTGAGGTACAGGC	0.652																																																	0													39	41	40					11																	1908055		2202	4296	6498	SO:0001587	stop_gained	0			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.811G>T	11.37:g.1908055G>T	ENSP00000308383:p.Glu271*		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Nonsense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.E271*	ENST00000311604.3	37	c.811	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	35	5.517962	0.96416	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000406638;ENST00000417766;ENST00000432093	.	.	.	3.3	2.32	0.28847	.	0.182139	0.25267	N	0.031906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-25.5017	10.3235	0.43780	0.0:0.2017:0.7983:0.0	.	.	.	.	X	271;399;209;262;209;209;209	.	ENSP00000308383:E271X	E	+	1	0	LSP1	1864631	1.000000	0.71417	0.981000	0.43875	0.598000	0.36846	4.086000	0.57664	0.665000	0.31066	0.455000	0.32223	GAG	LSP1	-	pfam_Caldesmon_LSP,prints_Lymphspecific	ENSG00000130592		0.652	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	-	0	168	0	G	NM_002339		1908055	1	tier1	-	no_errors	ENST00000311604	ensembl	human	known	74_37	nonsense	5.41	105	6	SNP	0.993	T	T	1908055	G	T	1908055	4	4	34	1	0	0	0	0	0	1	0	0	9098	1291	45	3	841	3	LSP1	11	1908055	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		1908055	133098461	220	8193											
HBB	3043	genome.wustl.edu	37	chr11	5248211	5248211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgttcaccttgccccacaggGcagtaacggcagacttctcc	8	8	9	16	2	2	1	1	0	1	1	3	1	2	1	4	2	2	4	4	2	1	4	rs35203747|rs67440443	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:5248211G>A	ENST00000335295.4	-	1	90	c.41C>T	c.(40-42)gCc>gTc	p.A14V	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	14			A -> D (in J-Lens; dbSNP:rs35203747).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.A14D(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GCCCCACAGGGCAGTAACGGC	0.493									Sickle Cell Trait		OREG0003733	type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Missense(1)	kidney(1)											166	131	143					11																	5248211		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.41C>T	11.37:g.5248211G>A	ENSP00000333994:p.Ala14Val	625	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.A14V	ENST00000335295.4	37	c.41	CCDS7753.1	11	.	.	.	.	.	.	.	.	.	.	g	11.76	1.734693	0.30774	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.87966	-2.32;-2.32	5.24	-9.27	0.00659	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.85596	0.5733	L	0.52905	1.665	0.09310	N	1	B	0.26845	0.161	B	0.38842	0.283	T	0.75929	-0.3144	9	0.72032	D	0.01	-0.0449	16.8793	0.86059	0.0:0.6716:0.1931:0.1352	.	14	P68871	HBB_HUMAN	V	14	ENSP00000333994:A14V;ENSP00000369671:A14V	ENSP00000333994:A14V	A	-	2	0	HBB	5204787	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-2.860000	0.00726	-1.341000	0.02225	0.650000	0.86243	GCC	HBB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000244734		0.493	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBB	HGNC	protein_coding	OTTHUMT00000142977.2		0	35	0	G	NM_000518		5248211	-1			no_errors	ENST00000335295	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	A	A	5248211	G	A	5248211	3	1	34	1	0	0	0	0	1	0	0	0	7005	1203	42	3	414	3	HBB	11	5248211	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3340156	5248211	129758305	221	8194											
HPX	3263	genome.wustl.edu	37	chr11	6461930	6461930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtctggcttggtctcGccttcagcaacattcccatg	5	13	10	13	1	4	0	1	0	3	0	6	0	5	0	2	3	2	2	2	3	1	3	rs113295804	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:6461930G>A	ENST00000265983.3	-	2	214	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	38	O-glycosylated at one site.				cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCTTGGTCTCGCCTTCAGCAA	0.498													G|||	6	0.00119808	8e-04	0.0014	5008	,	,		17324	0		0.001	False		,,,				2504	0.0031																0								G		11,4391	17.9+/-39.9	0,11,2190	137	133	134		114	-4	0	11	dbSNP_132	134	10,8582	7.7+/-29.5	0,10,4286	no	coding-synonymous	HPX	NM_000613.2		0,21,6476	AA,AG,GG		0.1164,0.2499,0.1616		38/463	6461930	21,12973	2201	4296	6497	SO:0001819	synonymous_variant	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.114C>T	11.37:g.6461930G>A			B2R957	Silent	SNP	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.G38	ENST00000265983.3	37	c.114	CCDS7763.1	11																																																																																			HPX	-	pirsf_Hemopexin_chordata	ENSG00000110169		0.498	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	-	0	61	0	G	NM_000613		6461930	-1	tier1	rs113295804	no_errors	ENST00000265983	ensembl	human	known	74_37	silent	64.77	30	57	SNP	0.004	A	A	6461930	G	A	6461930	2	1	34	1	0	0	0	0	0	0	0	1	7373	1074	38	1		1	HPX	11	6461930	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1213719	6461930	128544586	222	8195											
DNHD1	144132	genome.wustl.edu	37	chr11	6588542	6588542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacccaagtacccttggtgGgtgcattgggcgctttggct	5	13	13	10	1	0	0	0	0	0	0	0	0	0	0	2	4	3	4	2	4	3	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:6588542G>T	ENST00000527990.2	+	34	11803	c.11803G>T	c.(11803-11805)Ggt>Tgt	p.G3935C	DNHD1_ENST00000254579.6_Missense_Mutation_p.G3935C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3935					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCTTGGTGGGTGCATTGGG	0.602																																																	0													59	67	64					11																	6588542		2101	4220	6321	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11803G>T	11.37:g.6588542G>T	ENSP00000436180:p.Gly3935Cys		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.G3935C	ENST00000527990.2	37	c.11803	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766548	0.49574	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.26810	1.71;1.71	4.54	4.54	0.55810	.	0.000000	0.47852	D	0.000218	T	0.35098	0.0920	L	0.29908	0.895	0.34144	D	0.666745	D;D;D	0.89917	0.991;1.0;0.991	P;D;P	0.76071	0.635;0.987;0.635	T	0.44513	-0.9323	10	0.51188	T	0.08	-9.1708	9.9729	0.41765	0.0:0.0:0.7981:0.2019	.	3023;203;3935	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	C	3935;3935;203;203	ENSP00000254579:G3935C;ENSP00000436180:G3935C	ENSP00000254579:G3935C	G	+	1	0	DNHD1	6545118	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.586000	0.60984	2.359000	0.80004	0.561000	0.74099	GGT	DNHD1	-	NULL	ENSG00000179532		0.602	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	74	0	G	NM_144666		6588542	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	6588542	G	T	6588542	3	4	34	1	0	0	0	0	1	0	0	0	4682	1232	43	3	11946	3	DNHD1	11	6588542	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	126612	6588542	128417974	223	8196											
ABCC8	6833	genome.wustl.edu	37	chr11	17483265	17483265	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgttcatccaccagtaGgtgcctttggacagcagatt	10	10	11	10	1	1	1	1	0	0	1	2	2	2	2	3	3	2	3	3	3	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:17483265G>T	ENST00000389817.3	-	5	755	c.687C>A	c.(685-687)acC>acA	p.T229T	ABCC8_ENST00000302539.4_Silent_p.T229T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	229					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCCACCAGTAGGTGCCTTTGG	0.587																																																	0													165	141	149					11																	17483265		2200	4293	6493	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.687C>A	11.37:g.17483265G>T			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.T229	ENST00000389817.3	37	c.687	CCDS31437.1	11																																																																																			ABCC8	-	NULL	ENSG00000006071		0.587	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	113	0	G	NM_000352		17483265	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.984	T	T	17483265	G	T	17483265	2	4	34	1	0	0	0	0	0	0	0	1	58	987	35	3		3	ABCC8	11	17483265	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10894723	17483265	117523251	224	8197											
RAPSN	5913	genome.wustl.edu	37	chr11	47463408	47463408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctccggtggatgtcagcGaagcagagcaggcagagcgc	9	4	17	11	4	1	2	1	0	0	2	2	4	2	3	1	4	4	4	1	4	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:47463408G>T	ENST00000298854.2	-	4	969	c.756C>A	c.(754-756)ttC>ttA	p.F252L	RAPSN_ENST00000528356.1_5'Flank|RAPSN_ENST00000529341.1_Missense_Mutation_p.F252L|RAPSN_ENST00000352508.3_Missense_Mutation_p.F252L|RAPSN_ENST00000524487.1_Missense_Mutation_p.F199L|RNU6-1302P_ENST00000516518.1_RNA	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	252					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGATGTCAGCGAAGCAGAGCA	0.677																																																	0																																										SO:0001583	missense	0				CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"RING-type (C3HC4) zinc fingers"	9863	protein-coding gene	gene with protein product	"rapsyn"	601592	"receptor-associated protein of the synapse, 43kD"			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.756C>A	11.37:g.47463408G>T	ENSP00000298854:p.Phe252Leu		Q8TDF3|Q9BTD9	Missense_Mutation	SNP	pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic	p.F252L	ENST00000298854.2	37	c.756	CCDS7936.1	11	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511694	0.27036	.	.	ENSG00000165917	ENST00000298854;ENST00000352508;ENST00000524487;ENST00000529341	D;D;T;D	0.91068	-2.57;-2.78;1.68;-2.78	5.19	-0.922	0.10468	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	L	0.43757	1.38	0.58432	D	0.99999	B;P;P	0.36330	0.096;0.548;0.453	B;P;B	0.45071	0.026;0.468;0.311	T	0.77120	-0.2705	10	0.02654	T	1	-16.5458	9.8993	0.41338	0.6323:0.0:0.3677:0.0	.	252;252;252	E9PK11;Q13702-2;Q13702	.;.;RAPSN_HUMAN	L	252;252;199;252	ENSP00000298854:F252L;ENSP00000298853:F252L;ENSP00000435551:F199L;ENSP00000431732:F252L	ENSP00000298854:F252L	F	-	3	2	RAPSN	47419984	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	1.962000	0.40442	0.024000	0.15214	-0.471000	0.05019	TTC	RAPSN	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000165917		0.677	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPSN	HGNC	protein_coding	OTTHUMT00000391726.1	-	0	61	0	G			47463408	-1	tier1	-	no_errors	ENST00000298854	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	47463408	G	T	47463408	3	4	34	1	0	0	0	0	1	0	0	0	13096	1049	37	2	502	2	RAPSN	11	47463408	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	29980143	47463408	87543108	225	8198											
DAGLA	747	genome.wustl.edu	37	chr11	61511391	61511391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagcactcacaggacacGcagcccctggaggcggccct	9	4	11	17	2	1	0	1	0	0	0	2	2	2	2	4	4	2	2	4	4	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:61511391G>A	ENST00000257215.5	+	20	2675	c.2559G>A	c.(2557-2559)acG>acA	p.T853T	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	853					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACAGGACACGCAGCCCCTGG	0.672																																																	0													66	78	74					11																	61511391		2155	4222	6377	SO:0001819	synonymous_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2559G>A	11.37:g.61511391G>A			A7E233|Q6WQJ0	Silent	SNP	pfam_Lipase_3	p.T853	ENST00000257215.5	37	c.2559	CCDS31578.1	11																																																																																			DAGLA	-	NULL	ENSG00000134780		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1		0	20	0	G	NM_006133		61511391	1			no_errors	ENST00000257215	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.963	A	A	61511391	G	A	61511391	2	1	34	1	0	0	0	0	0	0	0	1	4235	1074	38	1		1	DAGLA	11	61511391	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	14047983	61511391	73495125	226	8199											
ATL3	25923	genome.wustl.edu	37	chr11	63426674	63426674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaatgttgatctttctGaaccaaaacaacctgcactg	15	10	7	9	0	2	2	0	2	2	0	2	3	2	3	2	1	4	2	2	1	6	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:63426674G>T	ENST00000398868.3	-	2	373	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	ATL3_ENST00000332645.4_Intron|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000538786.1_Missense_Mutation_p.Q15K|ATL3_ENST00000535789.1_5'UTR	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	33					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TGATCTTTCTGAACCAAAACA	0.438																																																	0													86	85	85					11																	63426674		1958	4168	6126	SO:0001583	missense	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.97C>A	11.37:g.63426674G>T	ENSP00000381844:p.Gln33Lys		Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C	p.Q33K	ENST00000398868.3	37	c.97	CCDS41663.1	11	.	.	.	.	.	.	.	.	.	.	G	7.627	0.678121	0.14841	.	.	ENSG00000184743	ENST00000398868;ENST00000538786;ENST00000540699	T;T;T	0.60672	0.17;0.17;0.17	5.82	4.88	0.63580	.	.	.	.	.	T	0.35278	0.0926	N	0.08118	0	0.80722	D	1	P;B	0.38370	0.628;0.0	B;B	0.33254	0.16;0.0	T	0.31052	-0.9957	9	0.35671	T	0.21	.	14.1531	0.65401	0.0:0.0:0.8501:0.1499	.	85;33	F5GWF8;Q6DD88	.;ATLA3_HUMAN	K	33;15;85	ENSP00000381844:Q33K;ENSP00000437593:Q15K;ENSP00000441842:Q85K	ENSP00000381844:Q33K	Q	-	1	0	ATL3	63183250	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	3.103000	0.50298	2.739000	0.93911	0.655000	0.94253	CAG	ATL3	-	superfamily_P-loop_NTPase	ENSG00000184743		0.438	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1		0	20	0	G	NM_015459		63426674	-1			no_errors	ENST00000398868	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.959	T	T	63426674	G	T	63426674	3	4	34	1	0	0	0	0	1	0	0	0	1109	1299	45	3	1576	3	ATL3	11	63426674	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1915283	63426674	71579842	227	8200											
SLC22A12	116085	genome.wustl.edu	37	chr11	64360946	64360946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggtacggcagctgccttCgcccctgccttccccgtgta	4	10	11	16	3	0	0	0	0	0	0	2	0	1	0	6	2	4	4	6	2	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:64360946C>T	ENST00000377574.1	+	3	1323	c.576C>T	c.(574-576)ttC>ttT	p.F192F	SLC22A12_ENST00000336464.7_Intron|SLC22A12_ENST00000377567.2_Intron|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Intron	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	192					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.F192F(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CAGCTGCCTTCGCCCCTGCCT	0.612																																																	1	Substitution - coding silent(1)	lung(1)											102	88	93					11																	64360946		2201	4297	6498	SO:0001819	synonymous_variant	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"Solute carriers"	17989	protein-coding gene	gene with protein product		607096	"solute carrier family 22 (organic anion/cation transporter), member 12"			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.576C>T	11.37:g.64360946C>T			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F192	ENST00000377574.1	37	c.576	CCDS8075.1	11																																																																																			SLC22A12	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197891		0.612	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	-	0	59	0	C	NM_144585		64360946	1	tier1	-	no_errors	ENST00000377574	ensembl	human	known	74_37	silent	79.17	10	38	SNP	0.095	T	T	64360946	C	T	64360946	2	4	34	1	0	0	0	0	0	0	0	1	14488	883	31	1		1	SLC22A12	11	64360946	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	934272	64360946	70645570	228	8201											
PYGM	5837	genome.wustl.edu	37	chr11	64522770	64522770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggggtacaggacacgaGagatgttctccgccaggttt	9	10	13	9	2	1	1	0	0	1	1	2	4	1	2	2	4	1	3	2	4	1	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:64522770G>T	ENST00000164139.3	-	7	1228	c.830C>A	c.(829-831)tCt>tAt	p.S277Y	PYGM_ENST00000377432.3_Missense_Mutation_p.S189Y	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	277					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGGACACGAGAGATGTTCTC	0.612																																																	0													122	119	120					11																	64522770		2201	4296	6497	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.830C>A	11.37:g.64522770G>T	ENSP00000164139:p.Ser277Tyr		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.S277Y	ENST00000164139.3	37	c.830	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959408	0.92726	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94931	-3.4;-3.56	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000013	D	0.98242	0.9418	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.99316	1.0905	10	0.87932	D	0	-15.8142	17.1762	0.86842	0.0:0.0:1.0:0.0	.	189;277	A6NDY6;P11217	.;PYGM_HUMAN	Y	189;277;258	ENSP00000366650:S189Y;ENSP00000164139:S277Y	ENSP00000164139:S277Y	S	-	2	0	PYGM	64279346	1.000000	0.71417	0.970000	0.41538	0.844000	0.47949	9.869000	0.99810	2.665000	0.90641	0.655000	0.94253	TCT	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000068976		0.612	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	-	0	79	0	G	NM_005609		64522770	-1	tier1	-	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	64522770	G	T	64522770	3	4	34	1	0	0	0	0	1	0	0	0	12907	942	33	3	1754	3	PYGM	11	64522770	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	161824	64522770	70483746	229	8202											
ANO1	55107	genome.wustl.edu	37	chr11	70031758	70031758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacatctccaaggacttctGggccgtcctggcagcccggc	6	7	12	16	3	2	0	0	0	2	0	4	2	3	1	4	4	1	1	4	4	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:70031758G>T	ENST00000355303.5	+	25	2956	c.2651G>T	c.(2650-2652)tGg>tTg	p.W884L	ANO1_ENST00000525494.1_3'UTR|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000531349.1_Missense_Mutation_p.W593L|ANO1_ENST00000538023.1_Missense_Mutation_p.W884L|ANO1_ENST00000530676.1_Missense_Mutation_p.W738L|ANO1_ENST00000398543.2_Missense_Mutation_p.W738L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	884					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	AAGGACTTCTGGGCCGTCCTG	0.572																																																	0													101	113	109					11																	70031758		1949	4138	6087	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2651G>T	11.37:g.70031758G>T	ENSP00000347454:p.Trp884Leu		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.W884L	ENST00000355303.5	37	c.2651	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.245738	0.95272	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;D;D;D;T	0.83591	-1.44;-1.52;-1.74;-1.74;-1.36	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.94125	0.8116	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95698	0.8746	9	.	.	.	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	593;884	E9PNA7;Q5XXA6	.;ANO1_HUMAN	L	884;884;738;642;738;593;211	ENSP00000347454:W884L;ENSP00000444689:W884L;ENSP00000381551:W738L;ENSP00000435797:W738L;ENSP00000432843:W593L	.	W	+	2	0	ANO1	69709406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.989000	0.93506	2.460000	0.83146	0.655000	0.94253	TGG	ANO1	-	pfam_Anoctamin	ENSG00000131620		0.572	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1		0	133	0	G	NM_018043		70031758	1			no_errors	ENST00000355303	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	70031758	G	T	70031758	3	4	34	1	0	0	0	0	1	0	0	0	695	1357	47	3	2749	3	ANO1	11	70031758	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5508988	70031758	64974758	230	8203											
XRRA1	143570	genome.wustl.edu	37	chr11	74638455	74638455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctaataacttaaagtctCcatatttcacgtagatagtt	13	16	4	8	1	3	1	1	0	2	1	4	1	3	1	1	0	1	2	1	0	7	9			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:74638455C>A	ENST00000340360.6	-	7	810	c.479G>T	c.(478-480)gGa>gTa	p.G160V	XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.G160V|XRRA1_ENST00000533598.1_5'UTR	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTTAAAGTCTCCATATTTCAC	0.413																																																	0													103	97	99					11																	74638455		1858	4082	5940	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.479G>T	11.37:g.74638455C>A	ENSP00000339918:p.Gly160Val			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G160V	ENST00000340360.6	37	c.479	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914544	0.72983	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.58940	1.72;0.3;0.56	6.06	5.14	0.70334	.	0.081242	0.52532	D	0.000076	T	0.74053	0.3666	M	0.80746	2.51	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.74899	-0.3507	10	0.52906	T	0.07	-11.4934	10.2743	0.43501	0.0:0.913:0.0:0.087	.	160;160	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	V	160;160;160;160;168	ENSP00000339918:G160V;ENSP00000435838:G160V;ENSP00000437334:G168V	ENSP00000339918:G160V	G	-	2	0	XRRA1	74316103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	2.882000	0.98803	0.655000	0.94253	GGA	XRRA1	-	NULL	ENSG00000166435		0.413	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0	50	0	C	NM_182969		74638455	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	A	A	74638455	C	A	74638455	3	1	34	1	0	0	0	0	1	0	0	0	17510	855	30	3	1951	3	XRRA1	11	74638455	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	4606697	74638455	60368061	231	8204											
ODZ4	26011	genome.wustl.edu	37	chr11	78383352	78383352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgcgatcaaagtccagaGataggagatttcggttgtga	12	11	12	6	3	1	3	1	1	0	2	3	6	2	3	1	2	1	1	1	2	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:78383352G>T	ENST00000278550.7	-	31	5981	c.5519C>A	c.(5518-5520)tCt>tAt	p.S1840Y		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1840					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAAGTCCAGAGATAGGAGATT	0.512																																																	0													85	83	84					11																	78383352		1918	4137	6055	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5519C>A	11.37:g.78383352G>T	ENSP00000278550:p.Ser1840Tyr		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S1840Y	ENST00000278550.7	37	c.5519	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364656	0.61513	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.91407	-2.84;0.6	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.94955	0.8103	9	.	.	.	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1840	Q6N022	TEN4_HUMAN	Y	1840;304	ENSP00000278550:S1840Y;ENSP00000431711:S304Y	.	S	-	2	0	ODZ4	78061000	1.000000	0.71417	0.188000	0.23233	0.061000	0.15899	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCT	TENM4	-	NULL	ENSG00000149256		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	84	0	G			78383352	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	5.71	65	4	SNP	0.999	T	T	78383352	G	T	78383352	3	4	34	1	0	0	0	0	1	0	0	0	10876	942	33	3	2806	3	ODZ4	11	78383352	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3744897	78383352	56623164	232	8205											
NOX4	50507	genome.wustl.edu	37	chr11	89133193	89133193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttcttaccattgtgaGggtaaatggatgattttcta	10	18	9	4	0	2	2	0	2	2	0	2	3	2	3	1	2	1	2	1	2	5	8			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:89133193G>T	ENST00000263317.4	-	11	1304	c.1066C>A	c.(1066-1068)Ctc>Atc	p.L356I	NOX4_ENST00000534731.1_Missense_Mutation_p.L356I|NOX4_ENST00000413594.2_Missense_Mutation_p.L377I|NOX4_ENST00000527956.1_Missense_Mutation_p.L332I|NOX4_ENST00000343727.5_Missense_Mutation_p.L332I|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000532825.1_Missense_Mutation_p.L332I|NOX4_ENST00000535633.1_Missense_Mutation_p.L332I|NOX4_ENST00000528341.1_Missense_Mutation_p.L331I|NOX4_ENST00000542487.1_Missense_Mutation_p.L332I|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.L190I|NOX4_ENST00000424319.1_Missense_Mutation_p.L332I			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	356	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ACCATTGTGAGGGTAAATGGA	0.308																																																	0													90	91	91					11																	89133193		2201	4296	6497	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1066C>A	11.37:g.89133193G>T	ENSP00000263317:p.Leu356Ile		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L377I	ENST00000263317.4	37	c.1129	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772731	0.69992	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.77	4.77	0.60923	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.90188	0.6933	N	0.22421	0.69	0.46260	D	0.998956	P;D;D;D;P	0.76494	0.747;0.977;0.999;0.994;0.756	P;D;D;D;P	0.79784	0.759;0.936;0.993;0.953;0.678	D	0.89387	0.3686	9	.	.	.	-12.6906	18.1413	0.89641	0.0:0.0:1.0:0.0	.	332;190;331;356;356	E9PMY6;E9PR43;E9PPP2;Q9NPH5-6;Q9NPH5	.;.;.;.;NOX4_HUMAN	I	332;332;332;356;356;332;332;332;190;331;377	ENSP00000412446:L332I;ENSP00000440172:L332I;ENSP00000344747:L332I;ENSP00000436892:L356I;ENSP00000263317:L356I;ENSP00000434924:L332I;ENSP00000433797:L332I;ENSP00000439373:L332I;ENSP00000436093:L190I;ENSP00000436970:L331I;ENSP00000405705:L377I	.	L	-	1	0	NOX4	88772841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.362000	0.80069	0.561000	0.74099	CTC	NOX4	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000086991		0.308	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1		0	22	0	G	NM_016931		89133193	-1			no_errors	ENST00000413594	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	89133193	G	T	89133193	3	4	34	1	0	0	0	0	1	0	0	0	10597	1000	35	3	702	3	NOX4	11	89133193	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10749841	89133193	45873323	233	8206											
FAT3	120114	genome.wustl.edu	37	chr11	92087160	92087160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggcttcttttatttaaacCcagattctggtgttttacag	8	19	7	7	0	2	1	0	0	2	1	2	1	2	1	1	2	2	2	1	2	4	9			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:92087160C>T	ENST00000298047.6	+	1	1899	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	FAT3_ENST00000409404.2_Missense_Mutation_p.P628S|FAT3_ENST00000541502.1_Missense_Mutation_p.P628S|FAT3_ENST00000525166.1_Missense_Mutation_p.P478S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTATTTAAACCCAGATTCTGG	0.363										TCGA Ovarian(4;0.039)																																							0													35	35	35					11																	92087160		1829	4071	5900	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.1882C>T	11.37:g.92087160C>T	ENSP00000298047:p.Pro628Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P628S	ENST00000298047.6	37	c.1882		11	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715903	0.48622	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.74	5.74	0.90152	.	.	.	.	.	T	0.47691	0.1459	L	0.34521	1.04	0.58432	D	0.999991	D	0.76494	0.999	P	0.62491	0.903	T	0.18209	-1.0344	9	0.30078	T	0.28	.	18.8971	0.92427	0.0:1.0:0.0:0.0	.	628	Q8TDW7-3	.	S	628;628;628;478	ENSP00000298047:P628S;ENSP00000387040:P628S;ENSP00000443786:P628S;ENSP00000432586:P478S	ENSP00000298047:P628S	P	+	1	0	FAT3	91726808	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.755000	0.85180	2.709000	0.92574	0.591000	0.81541	CCA	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.363	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	16	0	C	NM_001008781		92087160	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	T	T	92087160	C	T	92087160	3	4	34	1	0	0	0	0	1	0	0	0	5713	623	22	3	1884	3	FAT3	11	92087160	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2953967	92087160	42919356	234	8207											
MAML2	84441	genome.wustl.edu	37	chr11	95825372	95825374	+	In_Frame_Del	DEL	TGT	TGT	-																															gctgttgctgctgctgctgcTgttgctgctgctgctgctgc																								rs60727839|rs543548810|rs112603485|rs141671766	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:95825372_95825374delTGT	ENST00000524717.1	-	2	3105_3107	c.1821_1823delACA	c.(1819-1824)caacag>cag	p.607_608QQ>Q		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	607					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.Q607Q(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ctgctgctgctgttgctgctgct	0.532			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001651	inframe_deletion	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1821_1823delACA	11.37:g.95825372_95825374delTGT	ENSP00000434552:p.Gln621del		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q611in_frame_del	ENST00000524717.1	37	c.1823_1821	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.532	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1		0	71	0	TGT			95825374	-1	tier1		no_errors	ENST00000524717	ensembl	human	known	74_37	in_frame_del	10.87	41	5	DEL	0.003:0.003:0.003	-	-	95825374	TGT	-	95825372	7	5	34	1	0	1	0	1	0	0	0	0	9244	1580	55	0	1663	0	MAML2	11	95825372	In_Frame_Del	DEL	TGT	TCGA-JY-A6F8-01A-11D-A33E-09	3738212	95825372	39181144	235	8208											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103036711	103036711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcatcagattgaaacaCaactggtgaataagttagag	15	11	9	6	0	3	4	2	2	1	2	3	4	3	4	0	1	2	1	0	1	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:103036711C>G	ENST00000375735.2	+	31	4840	c.4696C>G	c.(4696-4698)Caa>Gaa	p.Q1566E	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Q1566E|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1566	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTGAAACACAACTGGTGAA	0.348																																																	0													32	30	31					11																	103036711		1743	3856	5599	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4696C>G	11.37:g.103036711C>G	ENSP00000364887:p.Gln1566Glu		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q1566E	ENST00000375735.2	37	c.4696	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	2.705	-0.270024	0.05716	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26518	1.73;1.73	5.31	4.33	0.51752	.	0.508313	0.14809	N	0.297182	T	0.12305	0.0299	N	0.04724	-0.175	0.38796	D	0.955091	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12041	-1.0563	10	0.11794	T	0.64	.	12.7287	0.57185	0.0:0.6057:0.3943:0.0	.	1566;1566	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	E	1566	ENSP00000364887:Q1566E;ENSP00000381167:Q1566E	ENSP00000364887:Q1566E	Q	+	1	0	DYNC2H1	102541921	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.624000	0.61254	2.632000	0.89209	0.484000	0.47621	CAA	DYNC2H1	-	NULL	ENSG00000187240		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	13	0	C	XM_370652		103036711	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	60.67	35	54	SNP	0.999	G	G	103036711	C	G	103036711	3	3	34	1	0	0	0	0	1	0	0	0	4860	479	17	5	4818	5	DYNC2H1	11	103036711	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	7211339	103036711	31969805	236	8209											
GRIA4	2893	genome.wustl.edu	37	chr11	105774677	105774677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctccatggggccaGggaattgacatggagaggac	9	7	15	10	0	0	2	0	1	0	1	1	5	1	4	3	5	2	2	3	5	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:105774677G>T	ENST00000530497.1	+	7	1023	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	GRIA4_ENST00000428631.2_Missense_Mutation_p.Q341H|GRIA4_ENST00000525187.1_Missense_Mutation_p.Q341H|GRIA4_ENST00000393127.2_Missense_Mutation_p.Q341H|GRIA4_ENST00000393125.2_Missense_Mutation_p.Q341H|GRIA4_ENST00000282499.5_Missense_Mutation_p.Q341H			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	341					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CATGGGGCCAGGGAATTGACA	0.408																																																	0													92	96	95					11																	105774677		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1023G>T	11.37:g.105774677G>T	ENSP00000435775:p.Gln341His		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q341H	ENST00000530497.1	37	c.1023	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795047	0.50208	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.77	1.85	0.25348	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000001	D	0.82559	0.5063	L	0.39020	1.185	0.58432	D	0.999995	B;D;B	0.76494	0.127;0.999;0.114	B;D;B	0.83275	0.068;0.996;0.256	T	0.76208	-0.3043	10	0.12766	T	0.61	.	8.4573	0.32906	0.4156:0.0:0.5844:0.0	.	341;341;341	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	H	341	ENSP00000376833:Q341H;ENSP00000282499:Q341H;ENSP00000376835:Q341H;ENSP00000415551:Q341H;ENSP00000435775:Q341H;ENSP00000432180:Q341H	ENSP00000282499:Q341H	Q	+	3	2	GRIA4	105279887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.854000	0.27791	0.465000	0.27167	0.655000	0.94253	CAG	GRIA4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152578		0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0	20	0	G			105774677	1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.999	T	T	105774677	G	T	105774677	3	4	34	1	0	0	0	0	1	0	0	0	6797	991	35	3	1049	3	GRIA4	11	105774677	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2737966	105774677	29231839	237	8210											
DRD2	1813	genome.wustl.edu	37	chr11	113286268	113286268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgacaatgaagggcaCgtagaaggagacgatggagg	14	4	18	5	2	0	4	0	2	0	2	0	7	0	5	0	5	0	2	0	5	4	1	rs138509142		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:113286268C>T	ENST00000362072.3	-	5	942	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	DRD2_ENST00000538967.1_Missense_Mutation_p.V200M|DRD2_ENST00000355319.2_Missense_Mutation_p.V200M|DRD2_ENST00000544518.1_Missense_Mutation_p.V199M|DRD2_ENST00000346454.3_Missense_Mutation_p.V200M|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.V200M	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	200					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATGAAGGGCACGTAGAAGGAG	0.587																																																	0								C	MET/VAL,MET/VAL	0,4402		0,0,2201	177	140	153		598,598	5.7	1	11	dbSNP_134	153	2,8590	2.2+/-6.3	0,2,4294	yes	missense,missense	DRD2	NM_000795.3,NM_016574.3	21,21	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	200/444,200/415	113286268	2,12992	2201	4296	6497	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.598G>A	11.37:g.113286268C>T	ENSP00000354859:p.Val200Met		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.V200M	ENST00000362072.3	37	c.598	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.263512	0.95399	0.0	2.33E-4	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.69078	0.989;0.989;0.997;0.985	P;P;D;D	0.68483	0.903;0.903;0.958;0.915	T	0.76394	-0.2975	10	0.72032	D	0.01	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	199;200;200;200	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	M	200;200;200;199;200;200	ENSP00000347474:V200M;ENSP00000278597:V200M;ENSP00000354859:V200M;ENSP00000441068:V199M;ENSP00000442172:V200M;ENSP00000438215:V200M	ENSP00000278597:V200M	V	-	1	0	DRD2	112791478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.666000	0.90696	0.561000	0.74099	GTG	DRD2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000149295		0.587	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0	158	0	C	NM_000795		113286268	-1	tier1	rs138509142	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	28.38	53	21	SNP	1.000	T	T	113286268	C	T	113286268	3	4	34	1	0	0	0	0	1	0	0	0	4771	536	19	1	749	1	DRD2	11	113286268	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	7511591	113286268	21720248	238	8211											
HYOU1	10525	genome.wustl.edu	37	chr11	118919484	118919484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcaggtccagaacaaccaGctccaccccgatctcctcta	11	6	7	17	1	2	1	0	0	2	1	5	2	4	1	6	2	3	2	6	2	3	1	rs200858668		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:118919484G>T	ENST00000404233.3	-	18	2231	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	HYOU1_ENST00000529972.1_Missense_Mutation_p.L641M|HYOU1_ENST00000525859.1_Missense_Mutation_p.L641M|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	703					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		AGAACAACCAGCTCCACCCCG	0.602																																																	0													117	102	107					11																	118919484		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2107C>A	11.37:g.118919484G>T	ENSP00000384144:p.Leu703Met		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L703M	ENST00000404233.3	37	c.2107	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492111	0.64074	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000535579;ENST00000525859;ENST00000544701	T;T;T	0.01629	4.75;4.72;4.72	5.37	3.46	0.39613	.	0.074928	0.56097	N	0.000033	T	0.08179	0.0204	M	0.77486	2.375	0.80722	D	1	D;B;D;D	0.76494	0.999;0.156;0.999;0.999	D;B;D;D	0.73708	0.965;0.109;0.981;0.981	T	0.13845	-1.0494	10	0.32370	T	0.25	-11.9305	10.0933	0.42460	0.0707:0.0:0.7917:0.1376	.	694;685;703;703	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	M	703;694;641;552;641;684	ENSP00000384144:L703M;ENSP00000437313:L641M;ENSP00000433397:L641M	ENSP00000278752:L694M	L	-	1	2	HYOU1	118424694	1.000000	0.71417	0.972000	0.41901	0.603000	0.37013	2.665000	0.46791	0.798000	0.33994	0.655000	0.94253	CTG	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.602	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0	52	0	G	NM_006389		118919484	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.996	T	T	118919484	G	T	118919484	3	4	34	1	0	0	0	0	1	0	0	0	7497	962	34	3	928	3	HYOU1	11	118919484	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5633216	118919484	16087032	239	8212											
HYOU1	10525	genome.wustl.edu	37	chr11	118919813	118919813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccttaggttcagggggtgGgggctgagagccatcctcca	6	9	15	11	0	1	1	1	1	0	1	4	2	4	1	4	5	1	2	4	5	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:118919813G>T	ENST00000404233.3	-	17	2033	c.1909C>A	c.(1909-1911)Cca>Aca	p.P637T	HYOU1_ENST00000529972.1_Intron|HYOU1_ENST00000525859.1_Intron|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	637	Poly-Pro.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCAGGGGGTGGGGGCTGAGAG	0.612																																																	0													75	72	73					11																	118919813		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.1909C>A	11.37:g.118919813G>T	ENSP00000384144:p.Pro637Thr		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P637T	ENST00000404233.3	37	c.1909	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487088	0.26686	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000536103;ENST00000535579;ENST00000530473	T;T	0.01584	4.94;4.75	5.23	4.32	0.51571	.	0.391287	0.25771	N	0.028418	T	0.01905	0.0060	N	0.16602	0.42	0.80722	D	1	B;P;P	0.40794	0.134;0.729;0.729	B;B;B	0.43623	0.133;0.425;0.425	T	0.72877	-0.4159	10	0.20046	T	0.44	-1.9631	13.5306	0.61619	0.0754:0.0:0.9246:0.0	.	628;637;637	B3KXH0;Q9Y4L1;A8C1Z0	.;HYOU1_HUMAN;.	T	637;628;637;486;637	ENSP00000384144:P637T;ENSP00000431874:P637T	ENSP00000278752:P628T	P	-	1	0	HYOU1	118425023	0.977000	0.34250	0.832000	0.32986	0.019000	0.09904	1.667000	0.37471	1.432000	0.47375	0.655000	0.94253	CCA	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0	123	0	G	NM_006389		118919813	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	5.94	95	6	SNP	0.978	T	T	118919813	G	T	118919813	3	4	34	1	0	0	0	0	1	0	0	0	7497	1232	43	3	1130	3	HYOU1	11	118919813	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	329	118919813	16086703	240	8213											
TECTA	7007	genome.wustl.edu	37	chr11	121032794	121032794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgaccagacctcttgccCccagctgcaacgagctgcag	8	7	10	16	1	2	2	0	1	2	1	2	3	2	2	4	0	6	4	4	0	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:121032794C>A	ENST00000392793.1	+	16	5258	c.4987C>A	c.(4987-4989)Ccc>Acc	p.P1663T	TECTA_ENST00000264037.2_Missense_Mutation_p.P1663T			O75443	TECTA_HUMAN	tectorin alpha	1663	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.P1663S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACCTCTTGCCCCCAGCTGCAA	0.507																																																	1	Substitution - Missense(1)	lung(1)											104	98	100					11																	121032794		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4987C>A	11.37:g.121032794C>A	ENSP00000376543:p.Pro1663Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.P1663T	ENST00000392793.1	37	c.4987	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861776	0.32884	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.35236	1.32;1.32	5.27	4.35	0.52113	von Willebrand factor, type D domain (1);	0.254697	0.32459	N	0.006065	T	0.19406	0.0466	N	0.11560	0.145	0.26109	N	0.980712	B	0.14012	0.009	B	0.10450	0.005	T	0.09378	-1.0677	10	0.35671	T	0.21	.	10.1011	0.42507	0.0:0.8475:0.0:0.1525	.	1663	O75443	TECTA_HUMAN	T	1663	ENSP00000376543:P1663T;ENSP00000264037:P1663T	ENSP00000264037:P1663T	P	+	1	0	TECTA	120538004	0.009000	0.17119	0.987000	0.45799	0.943000	0.58893	1.164000	0.31810	2.448000	0.82819	0.650000	0.86243	CCC	TECTA	-	NULL	ENSG00000109927		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1		0	34	0	C	NM_005422		121032794	1			no_errors	ENST00000264037	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.959	A	A	121032794	C	A	121032794	3	1	34	1	0	0	0	0	1	0	0	0	15794	623	22	3	5045	3	TECTA	11	121032794	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2112981	121032794	13973722	241	8214											
TECTA	7007	genome.wustl.edu	37	chr11	121058567	121058567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacctcaaagataacaccaTtggcatcgaggagaatgcag	16	6	10	9	1	1	2	1	0	0	2	2	5	1	2	2	2	3	2	2	2	4	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:121058567T>C	ENST00000392793.1	+	21	6297	c.6026T>C	c.(6025-6027)aTt>aCt	p.I2009T	TECTA_ENST00000264037.2_Missense_Mutation_p.I2009T			O75443	TECTA_HUMAN	tectorin alpha	2009	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.		I -> T (in DFNA12). {ECO:0000269|PubMed:21520338}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GATAACACCATTGGCATCGAG	0.428																																																	0													185	164	171					11																	121058567		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6026T>C	11.37:g.121058567T>C	ENSP00000376543:p.Ile2009Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.I2009T	ENST00000392793.1	37	c.6026	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243402	0.79912	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.82167	-1.58;-1.58	5.7	5.7	0.88788	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.83774	2.66	0.54753	D	0.999988	D	0.76494	0.999	D	0.85130	0.997	D	0.92759	0.6222	10	0.87932	D	0	.	15.6323	0.76920	0.0:0.0:0.0:1.0	.	2009	O75443	TECTA_HUMAN	T	2009	ENSP00000376543:I2009T;ENSP00000264037:I2009T	ENSP00000264037:I2009T	I	+	2	0	TECTA	120563777	1.000000	0.71417	0.990000	0.47175	0.800000	0.45204	7.662000	0.83803	2.165000	0.68154	0.454000	0.30748	ATT	TECTA	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000109927		0.428	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	28	0	T	NM_005422		121058567	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	C	C	121058567	T	C	121058567	3	2	34	1	0	0	0	0	1	0	0	0	15794	1493	52	4	6104	4	TECTA	11	121058567	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	25773	121058567	13947949	242	8215											
SORL1	6653	genome.wustl.edu	37	chr11	121489490	121489490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcttttaccaggtttatgGtattttctatgccacgtcct	6	18	7	10	1	1	0	0	0	1	0	2	0	2	0	3	2	3	3	3	2	4	8			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:121489490G>T	ENST00000260197.7	+	42	5741	c.5612G>T	c.(5611-5613)gGt>gTt	p.G1871V	SORL1_ENST00000534286.1_Missense_Mutation_p.G781V|SORL1_ENST00000527934.1_Missense_Mutation_p.G486V|SORL1_ENST00000525532.1_Missense_Mutation_p.G815V|SORL1_ENST00000532694.1_Missense_Mutation_p.G717V	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1871	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGGTTTATGGTATTTTCTAT	0.458																																																	0													224	190	202					11																	121489490		2202	4299	6501	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5612G>T	11.37:g.121489490G>T	ENSP00000260197:p.Gly1871Val		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G1871V	ENST00000260197.7	37	c.5612	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233685	0.58886	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.53	5.53	0.82687	Fibronectin, type III (2);	0.175801	0.48767	D	0.000174	T	0.59972	0.2233	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.68192	0.956;0.892	T	0.62358	-0.6871	10	0.72032	D	0.01	.	19.0609	0.93093	0.0:0.0:1.0:0.0	.	486;1871	E9PKB0;Q92673	.;SORL_HUMAN	V	1871;815;717;781;486	ENSP00000260197:G1871V;ENSP00000434634:G815V;ENSP00000432131:G717V;ENSP00000436447:G781V;ENSP00000435405:G486V	ENSP00000260197:G1871V	G	+	2	0	SORL1	120994700	1.000000	0.71417	0.751000	0.31187	0.436000	0.31835	6.666000	0.74446	2.599000	0.87857	0.655000	0.94253	GGT	SORL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000137642		0.458	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2		0	19	0	G	NM_003105		121489490	1			no_errors	ENST00000260197	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.997	T	T	121489490	G	T	121489490	3	4	34	1	0	0	0	0	1	0	0	0	14979	1261	44	3	5778	3	SORL1	11	121489490	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	430923	121489490	13517026	243	8216											
BSX	390259	genome.wustl.edu	37	chr11	122850018	122850018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccactcgttctggcGtggacaggtagcgctggatc	6	9	13	13	3	1	0	0	0	1	0	4	2	2	2	2	4	2	4	2	4	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:122850018G>A	ENST00000343035.2	-	2	458	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	137					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TCGTTCTGGCGTGGACAGGTA	0.657																																																	0													62	74	70					11																	122850018		2076	4205	6281	SO:0001583	missense	0				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"Homeoboxes / ANTP class : NKL subclass"	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.410C>T	11.37:g.122850018G>A	ENSP00000344285:p.Thr137Met			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.T137M	ENST00000343035.2	37	c.410	CCDS41728.1	11	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672099	0.88348	.	.	ENSG00000188909	ENST00000343035	D	0.96265	-3.96	5.22	4.25	0.50352	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.100737	0.64402	D	0.000002	D	0.96969	0.9010	L	0.48877	1.53	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96976	0.9712	10	0.54805	T	0.06	.	15.2252	0.73345	0.0:0.1409:0.8591:0.0	.	137	Q3C1V8	BSH_HUMAN	M	137	ENSP00000344285:T137M	ENSP00000344285:T137M	T	-	2	0	BSX	122355228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.524000	0.73791	2.454000	0.82982	0.655000	0.94253	ACG	BSX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000188909		0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BSX	HGNC	protein_coding	OTTHUMT00000317076.1	-	0	74	0	G	NM_001098169		122850018	-1	tier1	-	no_errors	ENST00000343035	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	122850018	G	A	122850018	3	1	34	1	0	0	0	0	1	0	0	0	1539	1145	40	1	298	1	BSX	11	122850018	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1360528	122850018	12156498	244	8217											
CDON	50937	genome.wustl.edu	37	chr11	125831850	125831850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctaccacagggaccacagGaggagggctgctgctgaaag	11	5	15	10	0	0	1	0	1	0	0	0	4	0	4	2	4	4	4	2	4	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:125831850G>T	ENST00000392693.3	-	19	3527	c.3400C>A	c.(3400-3402)Cct>Act	p.P1134T	CDON_ENST00000531738.1_Missense_Mutation_p.P511T|CDON_ENST00000263577.7_Missense_Mutation_p.P1134T	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1134					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGGACCACAGGAGGAGGGCTG	0.483																																																	0													69	69	69					11																	125831850		2201	4299	6500	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.3400C>A	11.37:g.125831850G>T	ENSP00000376458:p.Pro1134Thr		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1134T	ENST00000392693.3	37	c.3400	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054408	0.36277	.	.	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.74421	-0.81;-0.16;-0.84	6.07	3.08	0.35506	.	0.264062	0.27236	N	0.020291	T	0.79551	0.4465	M	0.69823	2.125	0.38734	D	0.95374	D;D;P	0.61080	0.981;0.989;0.949	P;P;P	0.57324	0.662;0.818;0.548	T	0.80768	-0.1235	10	0.72032	D	0.01	-12.3677	7.7762	0.29039	0.1412:0.1332:0.7255:0.0	.	1134;1134;511	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	T	1134;511;1134	ENSP00000376458:P1134T;ENSP00000432901:P511T;ENSP00000263577:P1134T	ENSP00000263577:P1134T	P	-	1	0	CDON	125337060	1.000000	0.71417	0.037000	0.18230	0.014000	0.08584	4.168000	0.58216	0.903000	0.36546	0.655000	0.94253	CCT	CDON	-	NULL	ENSG00000064309		0.483	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2		0	40	0	G	NM_016952		125831850	-1			no_errors	ENST00000392693	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.980	T	T	125831850	G	T	125831850	3	4	34	1	0	0	0	0	1	0	0	0	3177	1174	41	3	402	3	CDON	11	125831850	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2981832	125831850	9174666	245	8218											
NCAPD3	23310	genome.wustl.edu	37	chr11	134086947	134086947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagaacaatgccaccaGtgtactatgggaaacattgt	15	10	9	7	0	0	2	0	1	0	1	0	3	0	3	2	1	4	1	2	1	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:134086947G>T	ENST00000534548.2	-	3	329	c.265C>A	c.(265-267)Ctg>Atg	p.L89M		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	89					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AATGCCACCAGTGTACTATGG	0.398																																																	0													105	96	99					11																	134086947		2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.265C>A	11.37:g.134086947G>T	ENSP00000433681:p.Leu89Met		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.L89M	ENST00000534548.2	37	c.265	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232725	0.58777	.	.	ENSG00000151503	ENST00000534548	T	0.57273	0.41	5.59	2.61	0.31194	.	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.65619	-0.6124	10	0.72032	D	0.01	-13.8515	9.9142	0.41423	0.2305:0.0:0.7695:0.0	.	89	P42695	CNDD3_HUMAN	M	89	ENSP00000433681:L89M	ENSP00000431612:L89M	L	-	1	2	NCAPD3	133592157	0.977000	0.34250	0.293000	0.24932	0.837000	0.47467	1.902000	0.39848	0.268000	0.21939	0.585000	0.79938	CTG	NCAPD3	-	pirsf_NCAPD3	ENSG00000151503		0.398	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0	21	0	G	NM_015261		134086947	-1			no_errors	ENST00000534548	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.693	T	T	134086947	G	T	134086947	3	4	34	1	0	0	0	0	1	0	0	0	10245	1020	36	3	4363	3	NCAPD3	11	134086947	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8255097	134086947	919569	246	8219											
GLB1L3	112937	genome.wustl.edu	37	chr11	134183872	134183872	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatcaataactcttccctGgagggctttaccatctattc	10	13	6	12	0	3	0	1	0	2	0	5	1	4	1	2	2	3	2	2	2	4	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr11:134183872G>T	ENST00000431683.2	+	17	1617	c.1617G>T	c.(1615-1617)ctG>ctT	p.L539L		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	539					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		ACTCTTCCCTGGAGGGCTTTA	0.493																																																	0													82	77	79					11																	134183872		1894	4123	6017	SO:0001819	synonymous_variant	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1617G>T	11.37:g.134183872G>T			A6NEM0|A6NN15|Q6P3S3|Q96FF8	Silent	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.L539	ENST00000431683.2	37	c.1617	CCDS44780.1	11																																																																																			GLB1L3	-	superfamily_Galactose-bd-like	ENSG00000166105		0.493	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1		0	22	0	G	NM_138416		134183872	1			no_errors	ENST00000431683	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.000	T	T	134183872	G	T	134183872	2	4	34	1	0	0	0	0	0	0	0	1	6456	1335	47	3		3	GLB1L3	11	134183872	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	96925	134183872	822644	247	8220											
SLC6A13	6540	genome.wustl.edu	37	chr12	352972	352972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgaggtaggggatgaaGaaggcacctgtggttagaaa	15	6	16	4	1	0	4	0	1	0	3	0	6	0	5	1	5	0	3	1	5	6	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:352972G>T	ENST00000343164.4	-	3	262	c.210C>A	c.(208-210)ttC>ttA	p.F70L	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	70					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGGGGATGAAGAAGGCACCTG	0.522																																																	0													84	80	81					12																	352972		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.210C>A	12.37:g.352972G>T	ENSP00000339260:p.Phe70Leu		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.F70L	ENST00000343164.4	37	c.210	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363777	0.82353	.	.	ENSG00000010379	ENST00000313154;ENST00000343164	D	0.90324	-2.65	6.17	1.56	0.23342	.	0.000000	0.85682	D	0.000000	D	0.97390	0.9146	H	0.99859	4.855	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.997	D	0.96742	0.9547	10	0.87932	D	0	.	12.1976	0.54307	0.3496:0.0:0.6504:0.0	.	49;70	B4DJS3;Q9NSD5	.;S6A13_HUMAN	L	49;70	ENSP00000339260:F70L	ENSP00000318097:F49L	F	-	3	2	SLC6A13	223233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.941000	0.40233	0.390000	0.25115	0.655000	0.94253	TTC	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000010379		0.522	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	-	0	32	0	G	NM_016615		352972	-1	tier1	-	no_errors	ENST00000343164	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	352972	G	T	352972	3	4	34	1	0	0	0	0	1	0	0	0	14721	933	33	3	1650	3	SLC6A13	12	352972	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		352972	133498923	248	8221											
GALNT8	26290	genome.wustl.edu	37	chr12	4830038	4830038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactctcccacttggaggtGgaattgcaggatctgagtaa	11	10	12	8	0	2	2	0	1	2	1	3	5	2	5	1	4	1	2	1	4	2	3	rs373981442		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:4830038G>A	ENST00000252318.2	+	1	532	c.195G>A	c.(193-195)gtG>gtA	p.V65V	RP11-234B24.6_ENST00000544741.2_Intron|RP11-234B24.2_ENST00000527518.1_lincRNA	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	65					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACTTGGAGGTGGAATTGCAGG	0.463																																					Colon(108;631 1558 7270 20097 39846)												0								G		1,4405	2.1+/-5.4	0,1,2202	66	68	67		195	1.3	0	12		67	0,8600		0,0,4300	no	coding-synonymous	GALNT8	NM_017417.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		65/638	4830038	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.195G>A	12.37:g.4830038G>A			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V65	ENST00000252318.2	37	c.195	CCDS8533.1	12																																																																																			GALNT8	-	NULL	ENSG00000130035		0.463	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0	42	0	G	NM_017417		4830038	1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	silent	53.33	21	24	SNP	0.001	A	A	4830038	G	A	4830038	2	1	34	1	0	0	0	0	0	0	0	1	6244	1335	47	3		3	GALNT8	12	4830038	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4477066	4830038	129021857	249	8222											
ZNF384	171017	genome.wustl.edu	37	chr12	6788181	6788181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaacggacgcttggctgtGtggggtcagctggtctgact	5	11	17	8	2	2	1	1	1	1	0	2	2	2	2	0	6	2	4	0	6	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:6788181G>T	ENST00000396801.3	-	4	442	c.235C>A	c.(235-237)Cac>Aac	p.H79N	ZNF384_ENST00000319770.3_Missense_Mutation_p.H79N|ZNF384_ENST00000396795.1_Missense_Mutation_p.H79N|ZNF384_ENST00000361959.3_Missense_Mutation_p.H79N|ZNF384_ENST00000355772.4_Missense_Mutation_p.H79N|ZNF384_ENST00000396799.2_Missense_Mutation_p.H79N	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	79					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GCTTGGCTGTGTGGGGTCAGC	0.577			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													185	170	175					12																	6788181		2203	4300	6503	SO:0001583	missense	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.235C>A	12.37:g.6788181G>T	ENSP00000380019:p.His79Asn		O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H79N	ENST00000396801.3	37	c.235	CCDS44817.1	12	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504116	0.44558	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485;ENST00000538829;ENST00000542351;ENST00000544482;ENST00000537248	T;T;T;T;T;T;T	0.09445	3.17;3.08;2.98;2.98;3.08;3.08;3.53	5.24	4.34	0.51931	.	0.460242	0.23114	N	0.051770	T	0.20740	0.0499	L	0.50333	1.59	0.47659	D	0.999483	D;P;P;P	0.58970	0.984;0.949;0.792;0.949	P;P;B;P	0.53360	0.724;0.6;0.318;0.6	T	0.01162	-1.1432	10	0.72032	D	0.01	-18.7742	15.2864	0.73831	0.0:0.0:0.8589:0.1411	.	79;79;79;79	Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.	N	79	ENSP00000321650:H79N;ENSP00000380013:H79N;ENSP00000380019:H79N;ENSP00000354592:H79N;ENSP00000348018:H79N;ENSP00000380017:H79N;ENSP00000412911:H79N	ENSP00000321650:H79N	H	-	1	0	ZNF384	6658442	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.437000	0.80417	1.417000	0.47077	0.561000	0.74099	CAC	ZNF384	-	NULL	ENSG00000126746		0.577	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1	-	0	25	0	G			6788181	-1	tier1	-	no_errors	ENST00000361959	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	6788181	G	T	6788181	3	4	34	1	0	0	0	0	1	0	0	0	17923	1377	48	3	1530	3	ZNF384	12	6788181	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1958143	6788181	127063714	250	8223											
ABCC9	10060	genome.wustl.edu	37	chr12	21998616	21998616	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctatagctacaatgaccGaatgcttcaaaagcttagag	15	10	8	8	1	2	2	1	1	1	1	2	3	2	2	1	0	4	3	1	0	8	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:21998616G>T	ENST00000261201.4	-	24	3016	c.3017C>A	c.(3016-3018)tCg>tAg	p.S1006*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.S970*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Nonsense_Mutation_p.S1006*	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1006	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.S1006L(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TACAATGACCGAATGCTTCAA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											122	106	112					12																	21998616		2203	4300	6503	SO:0001587	stop_gained	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3017C>A	12.37:g.21998616G>T	ENSP00000261201:p.Ser1006*		O60707	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S1006*	ENST00000261201.4	37	c.3017	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	42	9.490832	0.99186	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-10.2527	19.1181	0.93350	0.0:0.0:1.0:0.0	.	.	.	.	X	1006;633;1006;970	.	ENSP00000261200:S1006X	S	-	2	0	ABCC9	21889883	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.547000	0.98100	2.756000	0.94617	0.655000	0.94253	TCG	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000069431		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1		0	11	0	G	NM_005691		21998616	-1			no_errors	ENST00000261200	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T	T	21998616	G	T	21998616	4	4	34	1	0	0	0	0	0	1	0	0	59	1059	37	2	1834	2	ABCC9	12	21998616	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	15210435	21998616	111853279	251	8224											
COL2A1	1280	genome.wustl.edu	37	chr12	48391419	48391419	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggggaccaggggggccGggaggaccaggggggccagg	7	0	24	10	1	0	0	0	0	0	0	0	3	0	3	5	11	0	0	5	11	0	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:48391419G>T	ENST00000380518.3	-	7	665	c.501C>A	c.(499-501)ccC>ccA	p.P167P	COL2A1_ENST00000337299.6_Silent_p.P98P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	167					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	caggggggccgggaggaccag	0.562																																																	0													33	37	36					12																	48391419		2203	4300	6503	SO:0001819	synonymous_variant	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.501C>A	12.37:g.48391419G>T			A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P167	ENST00000380518.3	37	c.501	CCDS41778.1	12																																																																																			COL2A1	-	pfam_Collagen	ENSG00000139219		0.562	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0	111	0	G	NM_001844		48391419	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	silent	58.33	30	42	SNP	0.808	T	T	48391419	G	T	48391419	2	4	34	1	0	0	0	0	0	0	0	1	3694	1103	39	2		2	COL2A1	12	48391419	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	26392803	48391419	85460476	252	8225											
KRT72	140807	genome.wustl.edu	37	chr12	52984742	52984742	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgacctgcagctcctGgatctgaggttgggtgacaa	7	11	14	9	0	1	3	0	3	1	0	2	4	2	4	2	3	3	4	2	3	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:52984742G>A	ENST00000537672.2	-	6	977	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	KRT72_ENST00000398066.3_Nonsense_Mutation_p.Q135*|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Nonsense_Mutation_p.Q323*	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	323	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGCAGCTCCTGGATCTGAGGT	0.537																																																	0													83	77	79					12																	52984742		2203	4300	6503	SO:0001587	stop_gained	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.967C>T	12.37:g.52984742G>A	ENSP00000441160:p.Gln323*		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.Q323*	ENST00000537672.2	37	c.967	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969531	0.74246	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	.	.	.	5.01	5.01	0.66863	.	0.164099	0.29040	N	0.013336	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.3067	0.49340	0.0:0.1356:0.7241:0.1403	.	.	.	.	X	323;323;135	.	ENSP00000293745:Q323X	Q	-	1	0	KRT72	51271009	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	3.940000	0.56599	2.723000	0.93209	0.563000	0.77884	CAG	KRT72	-	pfam_IF,superfamily_Prefoldin	ENSG00000170486		0.537	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	-	0	42	0	G	NM_080747		52984742	-1	tier1	-	no_errors	ENST00000293745	ensembl	human	known	74_37	nonsense	20.00	32	8	SNP	1.000	A	A	52984742	G	A	52984742	4	1	34	1	0	0	0	0	0	1	0	0	8512	1357	47	3	584	3	KRT72	12	52984742	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4593323	52984742	80867153	253	8226											
ATF7	11016	genome.wustl.edu	37	chr12	53918509	53918509	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctactgtgcgccgccgtcGccccccagtactaggggtgg	5	8	13	15	4	1	0	0	0	1	0	2	0	1	0	5	3	3	1	5	3	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:53918509G>A	ENST00000548446.2	-	10	1109	c.997C>T	c.(997-999)Cga>Tga	p.R333*	ATF7_ENST00000456903.4_Nonsense_Mutation_p.R322*|ATF7_ENST00000420353.2_Nonsense_Mutation_p.R322*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.R333*|RP11-793H13.10_ENST00000591834.1_Nonsense_Mutation_p.R322*|ATF7_ENST00000415113.1_Nonsense_Mutation_p.R301*|ATF7_ENST00000546661.1_5'UTR			P17544	ATF7_HUMAN	activating transcription factor 7	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	CGCCGCCGTCGCCCCCCAGTA	0.592																																																	0													16	17	17					12																	53918509		1925	4137	6062	SO:0001587	stop_gained	0			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.997C>T	12.37:g.53918509G>A	ENSP00000449938:p.Arg333*		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Nonsense_Mutation	SNP	pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.R333*	ENST00000548446.2	37	c.997		12	.	.	.	.	.	.	.	.	.	.	G	38	6.832056	0.97873	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	.	.	.	5.32	2.43	0.29744	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.9661	14.1146	0.65144	0.0:0.0:0.4436:0.5564	.	.	.	.	X	333;333;146;301;322;322	.	ENSP00000304187:R146X	R	-	1	2	ATF7	52204776	0.953000	0.32496	0.022000	0.16811	0.936000	0.57629	1.517000	0.35867	0.445000	0.26639	-0.127000	0.14921	CGA	ATF7	-	pirsf_TF_cAMP-dep	ENSG00000170653		0.592	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ATF7	HGNC	protein_coding	OTTHUMT00000406302.2	-	0	85	0	G	NM_001130059		53918509	-1	tier1	-	no_errors	ENST00000328463	ensembl	human	known	74_37	nonsense	64.00	17	32	SNP	0.904	A	A	53918509	G	A	53918509	4	1	34	1	0	0	0	0	0	1	0	0	1087	1095	38	1	499	1	ATF7	12	53918509	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	933767	53918509	79933386	254	8227											
COPZ1	22818	genome.wustl.edu	37	chr12	54741805	54741805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatcctagagagtgatccCcagcaggtggtacaccgggt	9	8	14	10	1	0	3	0	2	0	1	2	4	2	3	4	3	2	2	4	3	2	2	rs546534354		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:54741805C>A	ENST00000262061.2	+	7	454	c.417C>A	c.(415-417)ccC>ccA	p.P139P	COPZ1_ENST00000416254.2_Silent_p.P88P|COPZ1_ENST00000455864.2_Silent_p.P116P|COPZ1_ENST00000548753.1_Silent_p.P51P|COPZ1_ENST00000549043.1_Silent_p.P147P|COPZ1_ENST00000552218.1_Silent_p.P160P|COPZ1_ENST00000553231.1_Silent_p.P116P|COPZ1_ENST00000552362.1_Silent_p.P139P|COPZ1_ENST00000549116.1_Silent_p.P81P|COPZ1_ENST00000551779.1_Silent_p.P139P|COPZ1_ENST00000548281.1_3'UTR|RP11-968A15.8_ENST00000553061.1_RNA	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	139					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)		p.P139P(1)		kidney(1)|lung(4)	5						AGAGTGATCCCCAGCAGGTGG	0.527																																																	1	Substitution - coding silent(1)	lung(1)											142	136	138					12																	54741805		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"coatomer protein complex, subunit zeta"	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.417C>A	12.37:g.54741805C>A			B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Silent	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	p.P139	ENST00000262061.2	37	c.417	CCDS8877.1	12																																																																																			COPZ1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom	ENSG00000111481		0.527	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPZ1	HGNC	protein_coding	OTTHUMT00000405753.1		0	47	0	C	NM_016057		54741805	1			no_errors	ENST00000262061	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.984	A	A	54741805	C	A	54741805	2	1	34	1	0	0	0	0	0	0	0	1	3748	610	22	3		3	COPZ1	12	54741805	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	823296	54741805	79110090	255	8228											
OR6C65	403282	genome.wustl.edu	37	chr12	55794997	55794997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctgaagattccctctGcccagcaaaggaaaaaggct	14	8	8	11	0	2	2	0	1	2	1	3	3	3	3	2	2	2	2	2	2	5	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:55794997G>T	ENST00000379665.2	+	1	784	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GATTCCCTCTGCCCAGCAAAG	0.398																																																	0													156	148	151					12																	55794997		2203	4300	6503	SO:0001583	missense	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.685G>T	12.37:g.55794997G>T	ENSP00000368986:p.Ala229Ser		B2RNH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A229S	ENST00000379665.2	37	c.685	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532311	0.27387	.	.	ENSG00000205328	ENST00000379665	T	0.00174	8.62	3.71	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.198004	0.24513	U	0.037878	T	0.00144	0.0004	L	0.37800	1.135	0.09310	N	1	B	0.22211	0.066	B	0.29267	0.1	T	0.30090	-0.9990	10	0.48119	T	0.1	.	5.2554	0.15544	0.158:0.0:0.6749:0.167	.	229	A6NJZ3	O6C65_HUMAN	S	229	ENSP00000368986:A229S	ENSP00000368986:A229S	A	+	1	0	OR6C65	54081264	0.000000	0.05858	0.514000	0.27761	0.924000	0.55760	-0.294000	0.08309	0.367000	0.24454	0.424000	0.28305	GCC	OR6C65	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205328		0.398	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1		0	23	0	G			55794997	1			no_errors	ENST00000379665	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.118	T	T	55794997	G	T	55794997	3	4	34	1	0	0	0	0	1	0	0	0	11234	1319	46	3	687	3	OR6C65	12	55794997	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1053192	55794997	78056898	256	8229											
SPRYD4	283377	genome.wustl.edu	37	chr12	56862930	56862930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattggagcccaccaaggtgGccttgaatgtggagcgcttc	8	9	14	10	1	0	1	0	1	0	0	1	4	0	3	3	4	2	1	3	4	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:56862930G>T	ENST00000338146.5	+	2	268	c.193G>T	c.(193-195)Gcc>Tcc	p.A65S	MIP_ENST00000555551.1_5'UTR	NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	65	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						CACCAAGGTGGCCTTGAATGT	0.557																																																	0													55	58	57					12																	56862930		2203	4300	6503	SO:0001583	missense	0			AL832247	CCDS8920.1	12q13.3	2006-03-09				ENSG00000176422			27468	protein-coding gene	gene with protein product							Standard	NM_207344		Approved	DKFZp686N0877	uc001sli.4	Q8WW59		ENST00000338146.5:c.193G>T	12.37:g.56862930G>T	ENSP00000338034:p.Ala65Ser		A8K7A5	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.A65S	ENST00000338146.5	37	c.193	CCDS8920.1	12	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729957	0.48833	.	.	ENSG00000176422	ENST00000338146	T	0.60040	0.22	5.46	4.56	0.56223	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.156141	0.56097	D	0.000022	T	0.33469	0.0864	N	0.11560	0.145	0.37217	D	0.905057	B	0.27229	0.172	B	0.16289	0.015	T	0.36383	-0.9750	10	0.59425	D	0.04	-13.7219	7.6832	0.28526	0.0857:0.2802:0.6341:0.0	.	65	Q8WW59	SPRY4_HUMAN	S	65	ENSP00000338034:A65S	ENSP00000338034:A65S	A	+	1	0	SPRYD4	55149197	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	4.273000	0.58914	2.735000	0.93741	0.561000	0.74099	GCC	SPRYD4	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000176422		0.557	SPRYD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD4	HGNC	protein_coding			0	60	0	G	NM_207344		56862930	1			no_errors	ENST00000338146	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	56862930	G	T	56862930	3	4	34	1	0	0	0	0	1	0	0	0	15157	1203	42	3	199	3	SPRYD4	12	56862930	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1067933	56862930	76988965	257	8230											
BAZ2A	11176	genome.wustl.edu	37	chr12	56998952	56998952	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagctgtcaccttgacacaGgagtccctcctgcaggaccc	9	7	9	16	0	1	1	1	1	0	0	3	3	3	3	4	2	2	2	4	2	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:56998952G>C	ENST00000551812.1	-	14	2852	c.2659C>G	c.(2659-2661)Ctg>Gtg	p.L887V	BAZ2A_ENST00000179765.5_Missense_Mutation_p.L855V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L885V|BAZ2A_ENST00000379441.3_Missense_Mutation_p.L857V	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	887	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTTGACACAGGAGTCCCTCC	0.572																																																	0													66	66	66					12																	56998952		2085	4218	6303	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2659C>G	12.37:g.56998952G>C	ENSP00000446880:p.Leu887Val		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L887V	ENST00000551812.1	37	c.2659	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560391	0.65538	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.72167	-0.58;-0.58;-0.63;-0.63	5.3	2.45	0.29901	DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	0.171847	0.39083	N	0.001472	T	0.77003	0.4067	M	0.68593	2.085	0.43032	D	0.9946	D;D	0.67145	0.995;0.996	P;D	0.65573	0.894;0.936	T	0.72312	-0.4331	10	0.33141	T	0.24	-18.7697	7.4567	0.27270	0.4347:0.0:0.5653:0.0	.	885;887	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	V	857;855;887;885	ENSP00000368754:L857V;ENSP00000179765:L855V;ENSP00000446880:L887V;ENSP00000447941:L885V	ENSP00000179765:L855V	L	-	1	2	BAZ2A	55285219	0.495000	0.26051	0.994000	0.49952	0.979000	0.70002	0.755000	0.26405	0.322000	0.23283	-0.140000	0.14226	CTG	BAZ2A	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily	ENSG00000076108		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0	87	0	G	NM_013449		56998952	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	19.61	40	10	SNP	0.805	C	C	56998952	G	C	56998952	3	2	34	1	0	0	0	0	1	0	0	0	1332	991	35	5	3122	5	BAZ2A	12	56998952	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	136022	56998952	76852943	258	8231											
TMEM5	10329	genome.wustl.edu	37	chr12	64196047	64196047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgctgttgttttgctcgGaaatgaacattgtgataatg	9	17	10	5	1	1	2	0	2	1	0	2	3	1	3	0	1	3	4	0	1	3	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:64196047G>T	ENST00000261234.6	+	4	763	c.605G>T	c.(604-606)gGa>gTa	p.G202V	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	202						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GTTTTGCTCGGAAATGAACAT	0.378																																																	0													80	78	78					12																	64196047		2203	4300	6503	SO:0001583	missense	0			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.605G>T	12.37:g.64196047G>T	ENSP00000261234:p.Gly202Val		A8K017|Q6PKD6	Missense_Mutation	SNP	pfam_Exostosin	p.G202V	ENST00000261234.6	37	c.605	CCDS8966.1	12	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684889	0.68157	.	.	ENSG00000118600	ENST00000261234	T	0.30981	1.51	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62086	-0.6928	9	.	.	.	-29.9635	19.0229	0.92922	0.0:0.0:1.0:0.0	.	202	Q9Y2B1	TMEM5_HUMAN	V	202	ENSP00000261234:G202V	.	G	+	2	0	TMEM5	62482314	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	9.215000	0.95146	2.656000	0.90262	0.591000	0.81541	GGA	TMEM5	-	NULL	ENSG00000118600		0.378	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM5	HGNC	protein_coding	OTTHUMT00000400821.1		0	24	0	G	NM_014254		64196047	1			no_errors	ENST00000261234	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	64196047	G	T	64196047	3	4	34	1	0	0	0	0	1	0	0	0	16221	1174	41	3	619	3	TMEM5	12	64196047	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7197095	64196047	69655848	259	8232											
PTPRR	5801	genome.wustl.edu	37	chr12	71050497	71050497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcacctatccatacgaaGctggcagacaatgcttagtg	12	9	8	12	1	1	1	1	0	0	1	2	2	2	1	2	1	3	3	2	1	5	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:71050497G>T	ENST00000283228.2	-	13	2319	c.1867C>A	c.(1867-1869)Ctt>Att	p.L623I	PTPRR_ENST00000378778.1_Missense_Mutation_p.L417I|PTPRR_ENST00000440835.2_Missense_Mutation_p.L378I|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.L511I|PTPRR_ENST00000549308.1_Missense_Mutation_p.L378I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	623	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L623I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCATACGAAGCTGGCAGACA	0.458																																																	1	Substitution - Missense(1)	lung(1)											201	155	170					12																	71050497		2203	4300	6503	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1867C>A	12.37:g.71050497G>T	ENSP00000283228:p.Leu623Ile		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L623I	ENST00000283228.2	37	c.1867	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051210	0.75960	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.43747	D	0.000521	D	0.90123	0.6914	L	0.56124	1.755	0.58432	D	0.999997	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.91635	0.998;0.998;0.999	D	0.90015	0.4124	10	0.52906	T	0.07	-14.1544	14.6133	0.68531	0.0722:0.0:0.9278:0.0	.	511;417;623	F5GXR7;Q15256-4;Q15256	.;.;PTPRR_HUMAN	I	378;623;417;511;378	ENSP00000391750:L378I;ENSP00000283228:L623I;ENSP00000368054:L417I;ENSP00000339605:L511I;ENSP00000446943:L378I	ENSP00000283228:L623I	L	-	1	0	PTPRR	69336764	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.099000	0.64554	2.573000	0.86826	0.655000	0.94253	CTT	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153233		0.458	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1		0	12	0	G	NM_002849		71050497	-1			no_errors	ENST00000283228	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	71050497	G	T	71050497	3	4	34	1	0	0	0	0	1	0	0	0	12855	971	34	3	114	3	PTPRR	12	71050497	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6854450	71050497	62801398	260	8233											
C12orf64	283310	genome.wustl.edu	37	chr12	80665587	80665587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctgtgtttgtgctcCagggtaagcctcttcttcat	6	15	11	9	0	3	0	1	0	2	0	4	0	4	0	2	2	2	4	2	2	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:80665587C>A	ENST00000547103.1	+	23	2657	c.2651C>A	c.(2650-2652)cCa>cAa	p.P884Q	OTOGL_ENST00000458043.2_Missense_Mutation_p.P884Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	884					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTTTGTGCTCCAGGGTAAGCC	0.428																																																	0													86	93	90					12																	80665587		1974	4130	6104	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.2651C>A	12.37:g.80665587C>A	ENSP00000447211:p.Pro884Gln		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.P884Q	ENST00000547103.1	37	c.2651		12	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564326	0.45694	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.30981	1.51;1.51	5.14	5.14	0.70334	.	.	.	.	.	T	0.37348	0.1000	L	0.46819	1.47	0.47153	D	0.999331	.	.	.	.	.	.	T	0.04078	-1.0979	7	0.08381	T	0.77	.	18.9681	0.92704	0.0:1.0:0.0:0.0	.	.	.	.	Q	884	ENSP00000447211:P884Q;ENSP00000400895:P884Q	ENSP00000400895:P884Q	P	+	2	0	OTOGL	79189718	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.007000	0.76335	2.551000	0.86045	0.655000	0.94253	CCA	OTOGL	-	superfamily_TIL_dom	ENSG00000165899		0.428	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1		0	26	0	C	NM_173591		80665587	1			no_errors	ENST00000458043	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	80665587	C	A	80665587	3	1	34	1	0	0	0	0	1	0	0	0	1712	594	21	3	2741	3	C12orf64	12	80665587	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	9615090	80665587	53186308	261	8234											
FICD	11153	genome.wustl.edu	37	chr12	108910800	108910800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggtgactgaaccgaaatgGgtctcggtctggagccgctt	7	9	15	10	4	2	2	0	2	2	0	3	4	2	3	2	4	2	1	2	4	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:108910800G>T	ENST00000552695.1	+	2	286	c.51G>T	c.(49-51)tgG>tgT	p.W17C	FICD_ENST00000552758.1_Missense_Mutation_p.W17C|FICD_ENST00000361549.2_Missense_Mutation_p.W17C	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	17					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						AACCGAAATGGGTCTCGGTCT	0.627																																																	0													84	72	76					12																	108910800		2203	4300	6503	SO:0001583	missense	0			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)"					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.51G>T	12.37:g.108910800G>T	ENSP00000446479:p.Trp17Cys		O75406	Missense_Mutation	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W17C	ENST00000552695.1	37	c.51	CCDS9116.1	12	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497206	0.64186	.	.	ENSG00000198855	ENST00000552695;ENST00000552758;ENST00000361549	.	.	.	5.35	5.35	0.76521	.	0.111909	0.64402	D	0.000003	T	0.76673	0.4020	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78792	-0.2065	9	0.87932	D	0	-15.8424	17.2451	0.87026	0.0:0.0:1.0:0.0	.	17	Q9BVA6	FICD_HUMAN	C	17	.	ENSP00000354421:W17C	W	+	3	0	FICD	107434930	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	5.358000	0.66064	2.489000	0.83994	0.655000	0.94253	TGG	FICD	-	NULL	ENSG00000198855		0.627	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1	-	0	58	0	G	NM_007076		108910800	1	tier1	-	no_errors	ENST00000552695	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	108910800	G	T	108910800	3	4	34	1	0	0	0	0	1	0	0	0	5909	1241	43	3	53	3	FICD	12	108910800	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	28245213	108910800	24941095	262	8235											
C12orf34	84915	genome.wustl.edu	37	chr12	110205964	110205964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacaagcacctcagccGcacagtcaatggctatgaca	13	5	8	15	1	2	1	2	1	0	0	2	1	2	1	3	1	3	4	3	1	3	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:110205964G>A	ENST00000538780.1	+	3	946	c.230G>A	c.(229-231)cGc>cAc	p.R77H	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.R77H	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	77																	CACCTCAGCCGCACAGTCAAT	0.617																																																	0													103	65	78					12																	110205964		2203	4300	6503	SO:0001583	missense	0			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 34"	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.230G>A	12.37:g.110205964G>A	ENSP00000443292:p.Arg77His		Q8NCD5|Q96SP6	Missense_Mutation	SNP	NULL	p.R77H	ENST00000538780.1	37	c.230	CCDS9133.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101274	0.76983	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.50001	0.76;0.76	3.26	3.26	0.37387	.	0.129703	0.52532	D	0.000064	T	0.67439	0.2893	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73408	-0.3992	10	0.87932	D	0	-25.392	13.2234	0.59901	0.0:0.0:1.0:0.0	.	77	Q5U5X8	CL034_HUMAN	H	77	ENSP00000443292:R77H;ENSP00000351783:R77H	ENSP00000351783:R77H	R	+	2	0	C12orf34	108690347	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.112000	0.94314	1.653000	0.50694	0.305000	0.20034	CGC	FAM222A	-	NULL	ENSG00000139438		0.617	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222A	HGNC	protein_coding	OTTHUMT00000403175.1	-	0	93	0	G	NM_032829		110205964	1	tier1	-	no_errors	ENST00000358906	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	110205964	G	A	110205964	3	1	34	1	0	0	0	0	1	0	0	0	1686	1087	38	1	236	1	C12orf34	12	110205964	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1295164	110205964	23645931	263	8236											
OAS3	4940	genome.wustl.edu	37	chr12	113388603	113388603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaccaggggccccgccgcGcagagatccttgatgagatg	9	5	15	12	3	0	3	0	2	0	2	1	6	1	4	5	3	0	1	5	3	0	1	rs201050892		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:113388603G>T	ENST00000228928.7	+	7	1659	c.1480G>T	c.(1480-1482)Gca>Tca	p.A494S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	494	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCCCCGCCGCGCAGAGATCCT	0.582																																																	0													78	87	84					12																	113388603		1959	4126	6085	SO:0001583	missense	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1480G>T	12.37:g.113388603G>T	ENSP00000228928:p.Ala494Ser		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.A494S	ENST00000228928.7	37	c.1480	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	G	10.07	1.248903	0.22880	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.06849	3.25	4.26	-0.0246	0.13938	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.05318	0.0141	N	0.25380	0.74	0.09310	N	1	B	0.24920	0.114	B	0.19666	0.026	T	0.40059	-0.9583	9	0.37606	T	0.19	.	4.9318	0.13921	0.2159:0.397:0.3871:0.0	.	494	Q9Y6K5	OAS3_HUMAN	S	494;493	ENSP00000228928:A494S	ENSP00000228928:A494S	A	+	1	0	OAS3	111872986	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.091000	0.11146	0.096000	0.17463	-0.812000	0.03155	GCA	OAS3	-	pfscan_2-5-oligoadenylate_synth_N	ENSG00000111331		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	-	0	75	0	G			113388603	1	tier1	-	no_errors	ENST00000228928	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T	T	113388603	G	T	113388603	3	4	34	1	0	0	0	0	1	0	0	0	10840	1087	38	2	1506	2	OAS3	12	113388603	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3182639	113388603	20463292	264	8237											
PXN	5829	genome.wustl.edu	37	chr12	120661550	120661550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcctcctcacccactcgGgagcacggagagccaacact	9	6	9	17	2	1	1	1	0	0	1	4	3	3	2	4	2	4	2	4	2	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:120661550G>T	ENST00000228307.7	-	3	468	c.327C>A	c.(325-327)tcC>tcA	p.S109S	PXN_ENST00000536957.1_Silent_p.S107S|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.S109S|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000267257.7_Silent_p.S109S	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	109					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCCACTCGGGAGCACGGAG	0.602																																																	0													54	60	58					12																	120661550		2068	4211	6279	SO:0001819	synonymous_variant	0			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.327C>A	12.37:g.120661550G>T			B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.S109	ENST00000228307.7	37	c.327	CCDS44997.1	12																																																																																			PXN	-	NULL	ENSG00000089159		0.602	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4		0	126	0	G	NM_002859		120661550	-1			no_errors	ENST00000267257	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.975	T	T	120661550	G	T	120661550	2	4	34	1	0	0	0	0	0	0	0	1	12897	1219	43	3		3	PXN	12	120661550	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	7272947	120661550	13190345	265	8238											
WDR66	144406	genome.wustl.edu	37	chr12	122396966	122396966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccagtgtgactcatataaGcttttcccatgactcccagt	11	12	6	12	0	1	2	1	2	0	0	3	2	3	2	3	0	2	1	3	0	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:122396966G>T	ENST00000288912.4	+	13	2953	c.2099G>T	c.(2098-2100)aGc>aTc	p.S700I	WDR66_ENST00000397454.2_Missense_Mutation_p.S700I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	700							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACTCATATAAGCTTTTCCCAT	0.408																																					Esophageal Squamous(85;849 1794 49757 52143)												0													179	166	170					12																	122396966		1835	4084	5919	SO:0001583	missense	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2099G>T	12.37:g.122396966G>T	ENSP00000288912:p.Ser700Ile		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.S700I	ENST00000288912.4	37	c.2099	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129896	0.56721	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.64991	0.5;-0.13	4.87	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.556710	0.21036	N	0.081248	T	0.60222	0.2252	M	0.61703	1.905	0.22693	N	0.998846	B	0.25667	0.131	B	0.29440	0.102	T	0.54636	-0.8264	10	0.36615	T	0.2	.	14.1104	0.65118	0.0:0.4026:0.5974:0.0	.	700	Q8TBY9	WDR66_HUMAN	I	700	ENSP00000288912:S700I;ENSP00000380595:S700I	ENSP00000288912:S700I	S	+	2	0	WDR66	120881349	0.995000	0.38212	0.978000	0.43139	0.933000	0.57130	2.919000	0.48836	2.220000	0.72140	0.491000	0.48974	AGC	WDR66	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000158023		0.408	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1		0	26	0	G	NM_144668		122396966	1			no_errors	ENST00000288912	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.901	T	T	122396966	G	T	122396966	3	4	34	1	0	0	0	0	1	0	0	0	17366	971	34	3	2145	3	WDR66	12	122396966	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1735416	122396966	11454929	266	8239											
DNAH10	196385	genome.wustl.edu	37	chr12	124398985	124398985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccttcacctgggagttcCgtgacgagatggtcaatcgg	8	9	14	10	3	2	2	2	1	0	1	4	5	3	3	3	3	1	1	3	3	1	2	rs369076491		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:124398985C>T	ENST00000409039.3	+	60	10133	c.10108C>T	c.(10108-10110)Cgt>Tgt	p.R3370C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3370					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGGAGTTCCGTGACGAGAT	0.607																																																	0								C	CYS/ARG	0,4084		0,0,2042	61	68	65		10108	5.3	1	12		65	1,8391		0,1,4195	no	missense	DNAH10	NM_207437.3	180	0,1,6237	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	3370/4472	124398985	1,12475	2042	4196	6238	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10108C>T	12.37:g.124398985C>T	ENSP00000386770:p.Arg3370Cys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R3370C	ENST00000409039.3	37	c.10108	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101676	0.76983	0.0	1.19E-4	ENSG00000197653	ENST00000409039	T	0.81163	-1.46	5.28	5.28	0.74379	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.94029	0.8087	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96221	0.9160	10	0.87932	D	0	.	18.9088	0.92474	0.0:1.0:0.0:0.0	.	3370	Q8IVF4	DYH10_HUMAN	C	3370	ENSP00000386770:R3370C	ENSP00000386770:R3370C	R	+	1	0	DNAH10	122964938	1.000000	0.71417	0.997000	0.53966	0.542000	0.35054	6.147000	0.71783	2.449000	0.82847	0.561000	0.74099	CGT	DNAH10	-	NULL	ENSG00000197653		0.607	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	65	0	C			124398985	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	45.45	24	20	SNP	1.000	T	T	124398985	C	T	124398985	3	4	34	1	0	0	0	0	1	0	0	0	4612	652	23	1	10346	1	DNAH10	12	124398985	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2002019	124398985	9452910	267	8240											
GALNT9	50614	genome.wustl.edu	37	chr12	132905553	132905553	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcgcccccgctcaccGttgagctggttgtagaccac	5	7	11	18	4	1	2	1	1	0	1	1	2	1	2	6	2	1	5	6	2	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:132905553G>A	ENST00000328957.8	-	1	236	c.237C>T	c.(235-237)aaC>aaT	p.N79N	RP13-895J2.7_ENST00000537720.1_RNA	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	79					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCGCTCACCGTTGAGCTGGT	0.751																																					Colon(186;2147 2752 13553 41466)												0													9	12	11					12																	132905553		687	1577	2264	SO:0001630	splice_region_variant	0			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.238+1C>T	12.37:g.132905553G>A			Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.N79	ENST00000328957.8	37	c.237		12																																																																																			GALNT9	-	NULL	ENSG00000182870		0.751	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	-	0	71	0	G	NM_001122636	Silent	132905553	-1	tier1	-	no_errors	ENST00000328957	ensembl	human	known	74_37	silent	25.00	21	7	SNP	1.000	A	A	132905553	G	A	132905553	5	1	34	1	0	0	0	0	0	0	1	0	6245	1159	40	1	1618	1	GALNT9	12	132905553	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8506568	132905553	946342	268	8241											
ANKLE2	23141	genome.wustl.edu	37	chr12	133306803	133306803	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgccgattttttatttcttCcaagctcatgtcatcttcat	7	20	4	10	1	5	0	3	0	2	0	6	1	6	0	2	0	2	1	2	0	2	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr12:133306803C>A	ENST00000357997.5	-	11	2034	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*	ANKLE2_ENST00000542657.1_Nonsense_Mutation_p.E4*|ANKLE2_ENST00000539605.1_Nonsense_Mutation_p.E587*|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Nonsense_Mutation_p.E4*	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	649					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTTATTTCTTCCAAGCTCATG	0.507																																																	0													38	42	40					12																	133306803		1905	4106	6011	SO:0001587	stop_gained	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1945G>T	12.37:g.133306803C>A	ENSP00000350686:p.Glu649*		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Nonsense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.E649*	ENST00000357997.5	37	c.1945	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	c	52	18.731843	0.99909	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.7123	20.3324	0.98724	0.0:1.0:0.0:0.0	.	.	.	.	X	587;649;4;4;4	.	ENSP00000350686:E649X	E	-	1	0	ANKLE2	131816876	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	6.966000	0.76073	2.880000	0.98712	0.651000	0.88453	GAA	ANKLE2	-	NULL	ENSG00000176915		0.507	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	-	0	61	0	C			133306803	-1	tier1	-	no_errors	ENST00000357997	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	A	A	133306803	C	A	133306803	4	1	34	1	0	0	0	0	0	1	0	0	633	864	30	3	883	3	ANKLE2	12	133306803	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	401250	133306803	545092	269	8242											
TUBA3C	7278	genome.wustl.edu	37	chr13	19748175	19748175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatacatgagatcgaacTtatggtccaggcgagcccag	11	8	12	10	2	0	1	0	1	0	1	2	4	1	1	2	3	3	1	2	3	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:19748175T>G	ENST00000400113.3	-	5	1285	c.1181A>C	c.(1180-1182)aAg>aCg	p.K394T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	394					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGATCGAACTTATGGTCCAG	0.642																																																	0													125	114	117					13																	19748175		2203	4300	6503	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1181A>C	13.37:g.19748175T>G	ENSP00000382982:p.Lys394Thr		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.K394T	ENST00000400113.3	37	c.1181	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	12.88	2.071228	0.36566	.	.	ENSG00000198033	ENST00000400113	D	0.85955	-2.05	1.22	1.22	0.21188	.	0.000000	0.49305	U	0.000150	D	0.85864	0.5796	.	.	.	0.42575	D	0.993195	.	.	.	.	.	.	D	0.84442	0.0583	7	0.87932	D	0	.	6.5693	0.22529	0.0:0.0:0.0:1.0	.	.	.	.	T	394	ENSP00000382982:K394T	ENSP00000382982:K394T	K	-	2	0	TUBA3C	18646175	1.000000	0.71417	0.978000	0.43139	0.932000	0.56968	4.841000	0.62824	0.813000	0.34350	0.163000	0.16589	AAG	TUBA3C	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000198033		0.642	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	187	0	T	NM_006001		19748175	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	50.59	42	43	SNP	1.000	G	G	19748175	T	G	19748175	3	3	34	1	0	0	0	0	1	0	0	0	16795	1609	56	4	175	4	TUBA3C	13	19748175	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09		19748175	95421703	270	8243											
TPTE2	93492	genome.wustl.edu	37	chr13	20025336	20025336	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcgatagtggtttcgAtgtttcttatctagaaaccg	10	15	9	7	3	2	2	0	0	2	2	4	4	2	2	1	1	1	2	1	1	5	6	rs545861513	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:20025336A>G	ENST00000400230.2	-	11	815	c.771T>C	c.(769-771)caT>caC	p.H257H	TPTE2_ENST00000382978.1_Silent_p.H217H|TPTE2_ENST00000382977.4_Silent_p.H257H|TPTE2_ENST00000400103.2_Silent_p.H146H|TPTE2_ENST00000457266.2_Silent_p.H146H|TPTE2_ENST00000382975.4_Silent_p.H217H|TPTE2_ENST00000255310.6_Silent_p.H180H|TPTE2_ENST00000390680.2_Silent_p.H180H			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	257	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AGTGGTTTCGATGTTTCTTAT	0.358													a|||	6	0.00119808	0.003	0.0014	5008	,	,		20859	0		0.001	False		,,,				2504	0																0													132	116	122					13																	20025336		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.771T>C	13.37:g.20025336A>G			A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H257	ENST00000400230.2	37	c.771	CCDS45014.1	13																																																																																			TPTE2	-	pfscan_Phosphatase_tensin-typ	ENSG00000132958		0.358	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding			0	42	0	A	NM_199254		20025336	-1			no_errors	ENST00000382977	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.040	G	G	20025336	A	G	20025336	2	3	34	1	0	0	0	0	0	0	0	1	16479	330	12	4		4	TPTE2	13	20025336	Silent	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	277161	20025336	95144542	271	8244											
PABPC3	5042	genome.wustl.edu	37	chr13	25670851	25670851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaaagtatttgttggacAatttaagtctcgtaaagaac	14	13	8	6	2	1	1	0	0	1	1	3	2	1	2	0	1	1	4	0	1	7	6	rs75475407	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:25670851A>G	ENST00000281589.3	+	1	552	c.515A>G	c.(514-516)cAa>cGa	p.Q172R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTTGTTGGACAATTTAAGTCT	0.393													g|||	253	0.0505192	0.0719	0.0576	5008	,	,		22064	0.0268		0.0318	False		,,,				2504	0.0603																0													110	104	106					13																	25670851		2203	4300	6503	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.515A>G	13.37:g.25670851A>G	ENSP00000281589:p.Gln172Arg		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.Q172R	ENST00000281589.3	37	c.515	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	A	0.065	-1.215282	0.01542	.	.	ENSG00000151846	ENST00000281589	T	0.75704	-0.96	0.828	-0.101	0.13618	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.358703	0.18389	N	0.142734	T	0.42877	0.1222	N	0.10664	0.02	0.21841	N	0.99951	B	0.02656	0.0	B	0.01281	0.0	T	0.34079	-0.9843	10	0.02654	T	1	.	5.2926	0.15735	0.2365:0.0:0.7635:0.0	.	172	Q9H361	PABP3_HUMAN	R	172	ENSP00000281589:Q172R	ENSP00000281589:Q172R	Q	+	2	0	PABPC3	24568851	1.000000	0.71417	0.921000	0.36526	0.168000	0.22595	4.799000	0.62517	-0.074000	0.12820	-0.769000	0.03391	CAA	PABPC3	-	pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.393	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2		0	22	0	A	NM_030979		25670851	1			no_errors	ENST00000281589	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	G	G	25670851	A	G	25670851	3	3	34	1	0	0	0	0	1	0	0	0	11404	130	5	4	517	4	PABPC3	13	25670851	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	5645515	25670851	89499027	272	8245											
MTMR6	9107	genome.wustl.edu	37	chr13	25825857	25825857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcataattatattaaatAcagactgcctaggatgcagt	15	14	6	6	0	1	1	1	0	0	1	1	2	1	2	1	1	3	1	1	1	8	8			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:25825857A>G	ENST00000381801.5	-	13	2296	c.1535T>C	c.(1534-1536)gTa>gCa	p.V512A	MTMR6_ENST00000540661.1_Missense_Mutation_p.V512A	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	512					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TATATTAAATACAGACTGCCT	0.274																																																	0													36	37	37					13																	25825857		2199	4293	6492	SO:0001583	missense	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1535T>C	13.37:g.25825857A>G	ENSP00000371221:p.Val512Ala		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.V512A	ENST00000381801.5	37	c.1535	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921354	0.52653	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.94184	-3.34;-3.37	5.57	5.57	0.84162	.	0.514577	0.21960	N	0.066615	D	0.92909	0.7744	M	0.74389	2.26	0.40088	D	0.97621	B;B	0.14012	0.005;0.009	B;B	0.17433	0.018;0.013	D	0.90706	0.4624	10	0.51188	T	0.08	.	15.7202	0.77705	1.0:0.0:0.0:0.0	.	512;512	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	A	512;512;512;80	ENSP00000443161:V512A;ENSP00000371221:V512A	ENSP00000317987:V80A	V	-	2	0	MTMR6	24723857	0.872000	0.30054	0.326000	0.25389	0.975000	0.68041	7.010000	0.76353	2.119000	0.64992	0.477000	0.44152	GTA	MTMR6	-	NULL	ENSG00000139505		0.274	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1	-	0	22	0	A	NM_004685		25825857	-1	tier1	-	no_errors	ENST00000381801	ensembl	human	known	74_37	missense	50.00	34	34	SNP	0.664	G	G	25825857	A	G	25825857	3	3	34	1	0	0	0	0	1	0	0	0	9985	391	14	4	338	4	MTMR6	13	25825857	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	155006	25825857	89344021	273	8246											
MTMR6	9107	genome.wustl.edu	37	chr13	25832791	25832791	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatagttgtcttcattttCataaccttttccagctgctc	8	17	6	10	0	3	0	2	0	1	0	5	1	4	1	2	1	3	3	2	1	3	8			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:25832791C>A	ENST00000381801.5	-	7	1527	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	MTMR6_ENST00000540661.1_Nonsense_Mutation_p.E256*|MTMR6_ENST00000482345.1_5'UTR	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	256	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCTTCATTTTCATAACCTTTT	0.299																																																	0													70	66	67					13																	25832791		2202	4296	6498	SO:0001587	stop_gained	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.766G>T	13.37:g.25832791C>A	ENSP00000371221:p.Glu256*		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Nonsense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.E256*	ENST00000381801.5	37	c.766	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.988801	0.97987	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	.	.	.	5.47	4.63	0.57726	.	0.045719	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3431	0.66641	0.0:0.9286:0.0:0.0714	.	.	.	.	X	256	.	ENSP00000371221:E256X	E	-	1	0	MTMR6	24730791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	1.303000	0.44873	0.563000	0.77884	GAA	MTMR6	-	pfam_Myotubularin-like_Pase_dom	ENSG00000139505		0.299	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1		0	24	0	C	NM_004685		25832791	-1			no_errors	ENST00000381801	ensembl	human	known	74_37	nonsense	6.67	70	5	SNP	1.000	A	A	25832791	C	A	25832791	4	1	34	1	0	0	0	0	0	1	0	0	9985	835	29	3	1131	3	MTMR6	13	25832791	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	6934	25832791	89337087	274	8247											
SLC46A3	283537	genome.wustl.edu	37	chr13	29278197	29278197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaactgcagtgactcctCcaagtgtttctaagaaagca	14	10	8	9	0	1	3	0	1	1	2	3	3	3	3	2	0	3	3	2	0	5	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:29278197C>A	ENST00000266943.6	-	5	1553	c.1184G>T	c.(1183-1185)gGa>gTa	p.G395V	SLC46A3_ENST00000380814.4_Missense_Mutation_p.G395V|SLC46A3_ENST00000475385.1_5'UTR|RNU6-53P_ENST00000365367.1_RNA	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	395					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AGTGACTCCTCCAAGTGTTTC	0.413																																																	0													78	82	80					13																	29278197		2203	4300	6503	SO:0001583	missense	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1184G>T	13.37:g.29278197C>A	ENSP00000266943:p.Gly395Val		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G395V	ENST00000266943.6	37	c.1184	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	C	10.20	1.285468	0.23478	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.64618	-0.11;-0.11	5.77	2.81	0.32909	Major facilitator superfamily domain, general substrate transporter (1);	0.300895	0.35407	N	0.003238	T	0.54255	0.1847	L	0.36672	1.1	0.23524	N	0.997491	P;P	0.35793	0.465;0.521	B;B	0.38378	0.178;0.272	T	0.45056	-0.9287	10	0.25106	T	0.35	-6.4184	17.3073	0.87198	0.0:0.3138:0.6862:0.0	.	395;395	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	V	395	ENSP00000266943:G395V;ENSP00000370192:G395V	ENSP00000266943:G395V	G	-	2	0	SLC46A3	28176197	0.000000	0.05858	0.036000	0.18154	0.753000	0.42808	0.372000	0.20467	0.852000	0.35287	0.655000	0.94253	GGA	SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000139508		0.413	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	-	0	34	0	C	NM_181785		29278197	-1	tier1	-	no_errors	ENST00000266943	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.188	A	A	29278197	C	A	29278197	3	1	34	1	0	0	0	0	1	0	0	0	14691	855	30	3	223	3	SLC46A3	13	29278197	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	3445406	29278197	85891681	275	8248											
ZC3H13	23091	genome.wustl.edu	37	chr13	46543763	46543763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctattccaacatcatcCtctttctttttcttaattgg	7	20	2	12	0	5	0	1	0	4	0	8	0	7	0	2	1	1	0	2	1	3	7			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:46543763C>A	ENST00000242848.4	-	14	3264	c.2916G>T	c.(2914-2916)gaG>gaT	p.E972D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.E972D|ZC3H13_ENST00000378921.2_De_novo_Start_OutOfFrame			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	972	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAACATCATCCTCTTTCTTTT	0.353																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													156	153	154					13																	46543763		2203	4300	6503	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2916G>T	13.37:g.46543763C>A	ENSP00000242848:p.Glu972Asp		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E972D	ENST00000242848.4	37	c.2916		13	.	.	.	.	.	.	.	.	.	.	C	0.857	-0.736531	0.03111	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.35236	2.31;1.32	5.78	-10.9	0.00192	.	0.581426	0.17211	N	0.182701	T	0.11879	0.0289	N	0.17674	0.51	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.42413	-0.9453	10	0.20519	T	0.43	.	1.1423	0.01768	0.3619:0.245:0.1159:0.2773	.	972;972	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	D	972	ENSP00000242848:E972D;ENSP00000282007:E972D	ENSP00000242848:E972D	E	-	3	2	ZC3H13	45441764	0.000000	0.05858	0.037000	0.18230	0.297000	0.27493	-1.669000	0.01958	-2.932000	0.00300	-2.547000	0.00178	GAG	ZC3H13	-	NULL	ENSG00000123200		0.353	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0	13	0	C	NM_015070		46543763	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.012	A	A	46543763	C	A	46543763	3	1	34	1	0	0	0	0	1	0	0	0	17613	680	24	3	1794	3	ZC3H13	13	46543763	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	17265566	46543763	68626115	276	8249											
PCDH8	5100	genome.wustl.edu	37	chr13	53421446	53421446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcccccgagtgcagcggCggcggcggcagcggcgaagg	5	2	19	15	8	0	0	0	0	0	0	1	2	1	0	2	6	3	3	2	6	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:53421446C>T	ENST00000377942.3	-	1	1329	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	PCDH8_ENST00000338862.4_Missense_Mutation_p.A376T	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	376					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTGCAGCGGCGGCGGCGGCA	0.761																																					GBM(36;25 841 9273 49207)												0													3	4	4					13																	53421446		1301	2664	3965	SO:0001583	missense	0			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1126G>A	13.37:g.53421446C>T	ENSP00000367177:p.Ala376Thr		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A376T	ENST00000377942.3	37	c.1126	CCDS9438.1	13	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670555	0.47781	.	.	ENSG00000136099	ENST00000377942;ENST00000338862	T;T	0.51817	0.71;0.69	4.19	3.3	0.37823	.	0.391887	0.18520	N	0.138788	T	0.31670	0.0804	N	0.08118	0	0.31213	N	0.698384	D;D	0.63046	0.989;0.992	P;B	0.45753	0.492;0.384	T	0.41124	-0.9526	10	0.87932	D	0	.	12.4919	0.55905	0.1667:0.8333:0.0:0.0	.	376;376	O95206-2;O95206	.;PCDH8_HUMAN	T	376	ENSP00000367177:A376T;ENSP00000341350:A376T	ENSP00000341350:A376T	A	-	1	0	PCDH8	52319447	0.869000	0.29996	0.901000	0.35422	0.045000	0.14185	-0.422000	0.07043	2.158000	0.67659	0.561000	0.74099	GCC	PCDH8	-	NULL	ENSG00000136099		0.761	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH8	HGNC	protein_coding	OTTHUMT00000045108.2		0	14	0	C	NM_002590		53421446	-1			no_errors	ENST00000377942	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.952	T	T	53421446	C	T	53421446	3	4	34	1	0	0	0	0	1	0	0	0	11556	768	27	1	2098	1	PCDH8	13	53421446	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	6877683	53421446	61748432	277	8250											
KCTD12	115207	genome.wustl.edu	37	chr13	77460104	77460104	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgtgaacatgcgccaGagcagcgagtcgggcaccga	9	5	15	12	5	0	2	0	1	0	1	1	4	0	2	2	1	6	3	2	1	1	0	rs201685006	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:77460104G>T	ENST00000377474.2	-	1	421	c.180C>A	c.(178-180)ctC>ctA	p.L60L	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.L60L	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	60					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		ACATGCGCCAGAGCAGCGAGT	0.677																																																	0													16	14	14					13																	77460104		2173	4254	6427	SO:0001819	synonymous_variant	0			AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"predominantly fetal expressed T1 domain"	610521	"chromosome 13 open reading frame 2", "potassium channel tetramerisation domain containing 12"	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.180C>A	13.37:g.77460104G>T				Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.L60	ENST00000377474.2	37	c.180	CCDS9455.1	13																																																																																			KCTD12	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000178695		0.677	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD12	HGNC	protein_coding	OTTHUMT00000045309.2	-	0	16	0	G	NM_138444		77460104	-1	tier1	-	no_errors	ENST00000317765	ensembl	human	known	74_37	silent	22.22	14	4	SNP	1.000	T	T	77460104	G	T	77460104	2	4	34	1	0	0	0	0	0	0	0	1	8126	929	33	3		3	KCTD12	13	77460104	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	24038658	77460104	37709774	278	8251											
UBAC2	337867	genome.wustl.edu	37	chr13	99853785	99853785	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagctgtgctgctggatGttgctgttttcctggcgtgt	2	15	15	9	2	0	0	0	0	0	0	1	1	1	1	1	2	4	7	1	2	0	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:99853785G>T	ENST00000403766.3	+	1	166				UBAC2-AS1_ENST00000426037.2_lincRNA|UBAC2_ENST00000376440.2_Missense_Mutation_p.M40I	NM_001144072.1	NP_001137544.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2						protein localization to endoplasmic reticulum (GO:0070972)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCTGGATGTTGCTGTTTT	0.502											OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													138	116	123					13																	99853785		2203	4300	6503	SO:0001627	intron_variant	0			AK055110	CCDS9490.1, CCDS45064.1	13q32.3	2012-02-01	2007-04-20	2007-04-20	ENSG00000134882	ENSG00000134882			20486	protein-coding gene	gene with protein product			"phosphoglycerate dehydrogenase like 1"	PHGDHL1			Standard	NM_177967		Approved	FLJ30548, RP11-178C10.1	uc001voa.4	Q8NBM4	OTTHUMG00000017267	ENST00000403766.3:c.31+592G>T	13.37:g.99853785G>T		1346	B3KNV7|Q0VAB5|Q5W0W6|Q5W0W9|Q6GQR2|Q6P4B0|Q8N2E8|Q96NW2	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.M40I	ENST00000403766.3	37	c.120	CCDS45064.1	13	.	.	.	.	.	.	.	.	.	.	g	10.03	1.238527	0.22711	.	.	ENSG00000134882	ENST00000376440	.	.	.	3.06	1.29	0.21616	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24225	-1.0166	6	.	.	.	.	3.9149	0.09219	0.1285:0.0:0.6386:0.2329	.	40	Q8NBM4-2	.	I	40	.	.	M	+	3	0	UBAC2	98651786	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	0.662000	0.25038	0.319000	0.23209	-0.472000	0.04984	ATG	UBAC2	-	NULL	ENSG00000134882		0.502	UBAC2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	UBAC2	HGNC	protein_coding	OTTHUMT00000045588.1	-	0	65	0	G	NM_177967		99853785	1	tier1	-	no_errors	ENST00000376440	ensembl	human	known	74_37	missense	5.75	82	5	SNP	0.004	T	T	99853785	G	T	99853785	1	4	34	0	1	0	0	0	0	0	0	0	16884	1377	48	3		3	UBAC2	13	99853785	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	22393681	99853785	15316093	279	8252											
NALCN	259232	genome.wustl.edu	37	chr13	101733971	101733971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccagaagccagcaggCgacattgctatgatcttcat	10	11	9	11	1	2	2	1	1	1	1	2	3	2	2	2	1	4	2	2	1	2	4	rs150385138		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:101733971C>T	ENST00000251127.6	-	34	3873	c.3792G>A	c.(3790-3792)tcG>tcA	p.S1264S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1264					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCAGCAGGCGACATTGCTA	0.438																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	128	105	113		3792	-11.2	0.4	13	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NALCN	NM_052867.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		1264/1739	101733971	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3792G>A	13.37:g.101733971C>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.S1264	ENST00000251127.6	37	c.3792	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.438	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	33	0	C	NM_052867		101733971	-1	tier1	rs150385138	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	75.00	17	51	SNP	0.663	T	T	101733971	C	T	101733971	2	4	34	1	0	0	0	0	0	0	0	1	10186	755	27	1		1	NALCN	13	101733971	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1880186	101733971	13435907	280	8253											
ARHGEF7	8874	genome.wustl.edu	37	chr13	111927998	111927998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcacttacatgtcccaGgtcctgattcagtgtgccgg	8	11	10	12	2	2	1	2	1	0	0	4	1	4	1	3	2	3	0	3	2	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr13:111927998G>T	ENST00000375741.2	+	13	1705	c.1455G>T	c.(1453-1455)caG>caT	p.Q485H	ARHGEF7_ENST00000544132.1_Missense_Mutation_p.Q141H|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.Q229H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Q382H|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Q307H|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Q392H|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.Q464H|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.Q435H	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	485	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q307Q(1)|p.Q464Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACATGTCCCAGGTCCTGATTC	0.527																																																	2	Substitution - coding silent(2)	lung(2)											191	158	169					13																	111927998		2203	4300	6503	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1455G>T	13.37:g.111927998G>T	ENSP00000364893:p.Gln485His		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.Q485H	ENST00000375741.2	37	c.1455	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516294	0.44763	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000544132;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.25	3.49	0.39957	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.119788	0.64402	D	0.000017	T	0.48804	0.1520	M	0.83312	2.635	0.53688	D	0.999974	B;B;B;B;B;B	0.22683	0.001;0.073;0.002;0.0;0.002;0.001	B;B;B;B;B;B	0.32624	0.017;0.149;0.017;0.002;0.06;0.024	T	0.49418	-0.8942	10	0.59425	D	0.04	.	9.6055	0.39630	0.292:0.0:0.708:0.0	.	229;382;229;435;485;464	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	H	464;485;435;392;462;307;141;307;307;307;382;307;229	ENSP00000325994:Q464H;ENSP00000364893:Q485H;ENSP00000364891:Q435H;ENSP00000359657:Q392H;ENSP00000418067:Q307H;ENSP00000445384:Q141H;ENSP00000218789:Q307H;ENSP00000364888:Q307H;ENSP00000397068:Q307H;ENSP00000364889:Q382H;ENSP00000364875:Q307H;ENSP00000417596:Q229H	ENSP00000218789:Q307H	Q	+	3	2	ARHGEF7	110725999	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.164000	0.31810	0.695000	0.31675	0.650000	0.86243	CAG	ARHGEF7	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000102606		0.527	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding			0	33	0	G	NM_001113511		111927998	1			no_errors	ENST00000375741	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	111927998	G	T	111927998	3	4	34	1	0	0	0	0	1	0	0	0	911	991	35	3	1505	3	ARHGEF7	13	111927998	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10194027	111927998	3241880	281	8254											
RAB2B	84932	genome.wustl.edu	37	chr14	21931862	21931862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtttccatgaatataaGtccatgctccctagcaaagg	13	11	8	9	0	0	2	0	2	0	0	3	2	3	2	3	1	2	3	3	1	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:21931862G>T	ENST00000397762.1	-	6	527	c.427C>A	c.(427-429)Ctt>Att	p.L143I	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	143					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATGAATATAAGTCCATGCTCC	0.403																																					Melanoma(131;1007 1750 28652 34486 42672)												0													155	142	146					14																	21931862		2203	4300	6503	SO:0001583	missense	0			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.427C>A	14.37:g.21931862G>T	ENSP00000380869:p.Leu143Ile		B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L143I	ENST00000397762.1	37	c.427	CCDS9570.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093891	0.76870	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.79749	-1.3	6.01	2.23	0.28157	Small GTP-binding protein domain (1);	0.094608	0.45361	D	0.000364	T	0.77039	0.4072	N	0.21617	0.685	0.42909	D	0.994256	B;B;D	0.53462	0.286;0.451;0.96	P;P;P	0.60173	0.662;0.606;0.87	T	0.74456	-0.3659	10	0.72032	D	0.01	.	5.9152	0.19052	0.261:0.0:0.6145:0.1245	.	143;97;78	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	I	143	ENSP00000380869:L143I	ENSP00000302005:L143I	L	-	1	0	RAB2B	21001702	0.997000	0.39634	0.962000	0.40283	0.998000	0.95712	2.434000	0.44802	0.155000	0.19261	0.655000	0.94253	CTT	RAB2B	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000129472		0.403	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4		0	22	0	G			21931862	-1			no_errors	ENST00000397762	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.506	T	T	21931862	G	T	21931862	3	4	34	1	0	0	0	0	1	0	0	0	12963	1029	36	3	235	3	RAB2B	14	21931862	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		21931862	85417678	282	8255											
JPH4	84502	genome.wustl.edu	37	chr14	24040365	24040365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtggggaaccgtctctGggccctggcccttgcatccc	5	8	14	14	1	1	0	0	0	1	0	3	2	2	2	4	5	2	1	4	5	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:24040365G>T	ENST00000397118.3	-	6	2477	c.1575C>A	c.(1573-1575)ccC>ccA	p.P525P	JPH4_ENST00000356300.4_Silent_p.P525P|JPH4_ENST00000544177.1_Silent_p.P190P	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	525					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AACCGTCTCTGGGCCCTGGCC	0.662																																																	0													148	154	152					14																	24040365		2203	4299	6502	SO:0001819	synonymous_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"junctophilin like 1"	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1575C>A	14.37:g.24040365G>T			D3DS53|Q8ND44|Q96DQ0	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.P525	ENST00000397118.3	37	c.1575	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.662	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	-	0	172	0	G	NM_032452		24040365	-1	tier1	-	no_errors	ENST00000356300	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.981	T	T	24040365	G	T	24040365	2	4	34	1	0	0	0	0	0	0	0	1	7990	1335	47	3		3	JPH4	14	24040365	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2108503	24040365	83309175	283	8256											
CIDEB	27141	genome.wustl.edu	37	chr14	24777026	24777026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggagggttagcagtcacctGagtaagtcactggggttcag	9	9	15	8	1	3	1	3	1	0	0	3	2	3	2	1	4	1	4	1	4	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:24777026G>A	ENST00000336557.5	-	4	1341	c.39C>T	c.(37-39)ctC>ctT	p.L13L	CIDEB_ENST00000554411.1_Silent_p.L13L|CIDEB_ENST00000258807.5_Silent_p.L13L|LTB4R2_ENST00000533293.1_5'Flank|LTB4R2_ENST00000528054.1_5'Flank|CIDEB_ENST00000555817.1_5'Flank|NOP9_ENST00000267425.3_3'UTR|LTB4R2_ENST00000543919.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	13					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GCAGTCACCTGAGTAAGTCAC	0.567											OREG0022623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													170	130	144					14																	24777026		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.39C>T	14.37:g.24777026G>A		774	D3DS73|Q546V8|Q9NNW9	Silent	SNP	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.L13	ENST00000336557.5	37	c.39	CCDS32056.1	14																																																																																			CIDEB	-	NULL	ENSG00000136305		0.567	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	HGNC	protein_coding	OTTHUMT00000414120.1	-	0	57	0	G			24777026	-1	tier1	-	no_errors	ENST00000258807	ensembl	human	known	74_37	silent	47.83	24	22	SNP	0.999	A	A	24777026	G	A	24777026	2	1	34	1	0	0	0	0	0	0	0	1	3433	1277	45	3		3	CIDEB	14	24777026	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	736661	24777026	82572514	284	8257											
STYX	6815	genome.wustl.edu	37	chr14	53224469	53224469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtttttcaggaaaagttCttgtgcatggaaatgcaggg	11	13	12	5	0	2	0	1	0	1	0	2	2	2	2	0	3	2	4	0	3	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:53224469C>T	ENST00000354586.4	+	7	642	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.L117F	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	117	Tyrosine-protein phosphatase.				MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AGGAAAAGTTCTTGTGCATGG	0.318																																																	1	Substitution - Missense(1)	large_intestine(1)											69	74	72					14																	53224469		2203	4295	6498	SO:0001583	missense	0				CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	11447	protein-coding gene	gene with protein product		615814	"serine/threonine/tyrosine-interacting protein"			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.349C>T	14.37:g.53224469C>T	ENSP00000346599:p.Leu117Phe		B9EJG0|Q99850	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L117F	ENST00000354586.4	37	c.349	CCDS9711.1	14	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864663	0.91511	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	T;T	0.69306	-0.39;-0.39	5.58	5.58	0.84498	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85109	0.0962	10	0.62326	D	0.03	.	19.9414	0.97163	0.0:1.0:0.0:0.0	.	117	Q8WUJ0	STYX_HUMAN	F	117	ENSP00000403214:L117F;ENSP00000346599:L117F	ENSP00000346599:L117F	L	+	1	0	STYX	52294219	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.628000	0.74262	2.779000	0.95612	0.650000	0.86243	CTT	STYX	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000198252		0.318	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYX	HGNC	protein_coding	OTTHUMT00000276902.1		0	17	0	C	NM_145251		53224469	1			no_errors	ENST00000354586	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	53224469	C	T	53224469	3	4	34	1	0	0	0	0	1	0	0	0	15407	913	32	3	375	3	STYX	14	53224469	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	28447443	53224469	54125071	285	8258											
OTX2	5015	genome.wustl.edu	37	chr14	57270953	57270953	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagtgccacctcctctcGcatgaagatgtctgggtacc	7	12	9	13	1	3	2	1	1	2	1	5	2	4	2	4	1	2	2	4	1	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:57270953G>A	ENST00000555006.1	-	3	610	c.202C>T	c.(202-204)Cga>Tga	p.R68*	OTX2_ENST00000408990.3_Nonsense_Mutation_p.R68*|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000339475.5_Nonsense_Mutation_p.R76*|OTX2_ENST00000554788.1_Intron			P32243	OTX2_HUMAN	orthodenticle homeobox 2	68					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R76*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCTCCTCTCGCATGAAGATG	0.597																																																	1	Substitution - Nonsense(1)	large_intestine(1)											92	75	81					14																	57270953		2203	4300	6503	SO:0001587	stop_gained	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.202C>T	14.37:g.57270953G>A	ENSP00000452336:p.Arg68*		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Nonsense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF	p.R76*	ENST00000555006.1	37	c.226	CCDS41960.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.960437	0.97964	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	.	.	.	5.73	3.84	0.44239	.	0.000000	0.40064	N	0.001188	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0722	0.53624	0.0:0.0:0.5502:0.4498	.	.	.	.	X	76;68;68;76;68	.	ENSP00000343819:R76X	R	-	1	2	OTX2	56340706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.649000	0.61433	0.711000	0.32018	0.655000	0.94253	CGA	OTX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165588		0.597	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1		0	57	0	G	NM_021728.		57270953	-1			no_errors	ENST00000339475	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	1.000	A	A	57270953	G	A	57270953	4	1	34	1	0	0	0	0	0	1	0	0	11360	1095	38	1	675	1	OTX2	14	57270953	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4046484	57270953	50078587	286	8259											
DAAM1	23002	genome.wustl.edu	37	chr14	59819347	59819347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttcctttttgagatgaGccggtgagtttgaaaatgct	9	15	12	5	1	0	4	0	4	0	1	1	5	1	4	2	2	2	3	2	2	3	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:59819347G>T	ENST00000395125.1	+	18	2317	c.2294G>T	c.(2293-2295)aGc>aTc	p.S765I	DAAM1_ENST00000351081.1_Missense_Mutation_p.S765I|DAAM1_ENST00000360909.3_Missense_Mutation_p.S755I|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	765	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTGAGATGAGCCGGTGAGTT	0.398																																																	0													116	103	107					14																	59819347		2203	4300	6503	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2294G>T	14.37:g.59819347G>T	ENSP00000378557:p.Ser765Ile		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.S765I	ENST00000395125.1	37	c.2294	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.091547	0.94149	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.18502	2.21;2.21;2.21	6.04	6.04	0.98038	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51156	-0.8741	10	0.66056	D	0.02	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	755;765	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	I	755;765;765;765	ENSP00000354162:S755I;ENSP00000247170:S765I;ENSP00000378557:S765I	ENSP00000247170:S765I	S	+	2	0	DAAM1	58889100	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.845000	0.99498	2.873000	0.98535	0.563000	0.77884	AGC	DAAM1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000100592		0.398	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2		0	35	0	G	NM_014992		59819347	1			no_errors	ENST00000351081	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	59819347	G	T	59819347	3	4	34	1	0	0	0	0	1	0	0	0	4224	971	34	3	2364	3	DAAM1	14	59819347	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2548394	59819347	47530193	287	8260											
TDP1	55775	genome.wustl.edu	37	chr14	90450883	90450883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttgagccccttataccCacgaattgctgatggaaccc	10	10	9	12	1	0	2	0	2	0	0	0	4	0	3	4	2	4	2	4	2	4	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:90450883C>A	ENST00000335725.4	+	9	1158	c.908C>A	c.(907-909)cCa>cAa	p.P303Q	TDP1_ENST00000555880.1_Missense_Mutation_p.P303Q|TDP1_ENST00000357382.3_Missense_Mutation_p.P64Q|TDP1_ENST00000393452.3_Missense_Mutation_p.P303Q|TDP1_ENST00000393454.2_Missense_Mutation_p.P303Q	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	303					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCCTTATACCCACGAATTGCT	0.398								Repair of DNA-protein crosslinks																																									0													164	159	161					14																	90450883		2203	4300	6503	SO:0001583	missense	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.908C>A	14.37:g.90450883C>A	ENSP00000337353:p.Pro303Gln		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.P303Q	ENST00000335725.4	37	c.908	CCDS9888.1	14	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427839	0.62733	.	.	ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000553617;ENST00000335725;ENST00000357382;ENST00000555880	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.47	5.47	0.80525	.	0.055092	0.64402	D	0.000001	T	0.61540	0.2355	H	0.94345	3.525	0.80722	D	1	P;P;P;P	0.47910	0.88;0.902;0.579;0.784	B;B;B;B	0.38020	0.171;0.263;0.263;0.178	T	0.76198	-0.3047	10	0.59425	D	0.04	-12.8364	18.9274	0.92550	0.0:1.0:0.0:0.0	.	303;303;64;303	G3V2F4;E7EPD8;Q86TV8;Q9NUW8	.;.;.;TYDP1_HUMAN	Q	303;303;204;303;64;303	ENSP00000377098:P303Q;ENSP00000377099:P303Q;ENSP00000450708:P204Q;ENSP00000337353:P303Q;ENSP00000349952:P64Q;ENSP00000450628:P303Q	ENSP00000337353:P303Q	P	+	2	0	TDP1	89520636	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	5.560000	0.67332	2.571000	0.86741	0.655000	0.94253	CCA	TDP1	-	pfam_Tyr-DNA_phospho	ENSG00000042088		0.398	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1		0	19	0	C	NM_018319		90450883	1			no_errors	ENST00000335725	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	90450883	C	A	90450883	3	1	34	1	0	0	0	0	1	0	0	0	15775	594	21	3	934	3	TDP1	14	90450883	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	30631536	90450883	16898657	288	8261											
KIAA1409	57578	genome.wustl.edu	37	chr14	94160683	94160683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtttgttgtttcagatGgtagaaatggtgtgtctcca	8	17	11	5	0	3	2	2	0	1	2	4	2	3	2	1	2	0	4	1	2	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:94160683G>T	ENST00000393151.2	+	48	7590	c.7590G>T	c.(7588-7590)atG>atT	p.M2530I	UNC79_ENST00000553484.1_Missense_Mutation_p.M2552I|UNC79_ENST00000256339.4_Missense_Mutation_p.M2353I|UNC79_ENST00000555664.1_Missense_Mutation_p.M2491I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2530					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M2353I(1)|p.M2552I(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGTTTCAGATGGTAGAAATGG	0.388																																																	2	Substitution - Missense(2)	lung(2)											168	157	161					14																	94160683		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7590G>T	14.37:g.94160683G>T	ENSP00000376858:p.Met2530Ile		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.M2552I	ENST00000393151.2	37	c.7656		14	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853443	0.71719	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.16743	2.32;2.34;2.32;2.32	5.88	5.88	0.94601	.	0.037978	0.85682	D	0.000000	T	0.21186	0.0510	L	0.47716	1.5	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.01715	-1.1289	10	0.66056	D	0.02	-21.6824	19.8179	0.96578	0.0:0.0:1.0:0.0	.	2552	C9JQL1	.	I	2353;2491;2552;2530;2552	ENSP00000256339:M2353I;ENSP00000450868:M2491I;ENSP00000451360:M2552I;ENSP00000376858:M2530I	ENSP00000256339:M2353I	M	+	3	0	KIAA1409	93230436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.775000	0.98995	2.789000	0.95967	0.655000	0.94253	ATG	UNC79	-	superfamily_P-loop_NTPase	ENSG00000133958		0.388	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1		0	9	0	G	XM_028395		94160683	1			no_errors	ENST00000553484	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	94160683	G	T	94160683	3	4	34	1	0	0	0	0	1	0	0	0	8257	1348	47	3	7237	3	KIAA1409	14	94160683	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3709800	94160683	13188857	289	8262											
SERPINA1	5265	genome.wustl.edu	37	chr14	94844865	94844865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatcattaagaagacaaagGgtttgttgaacttgacctcg	14	11	9	7	1	1	4	1	2	0	2	2	4	1	4	1	1	1	2	1	1	5	4	rs199422209		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:94844865G>T	ENST00000448921.1	-	7	1750	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H	SERPINA1_ENST00000355814.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000437397.1_Missense_Mutation_p.P393H|SERPINA1_ENST00000449399.3_Missense_Mutation_p.P393H|SERPINA1_ENST00000404814.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000393087.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000393088.4_Missense_Mutation_p.P393H|SERPINA1_ENST00000440909.1_Missense_Mutation_p.P393H	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	393			P -> L (in M-Heerlen). {ECO:0000269|PubMed:2784123}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAAGACAAAGGGTTTGTTGAA	0.493																																																	0			GRCh37	CM890098	SERPINA1	M							122	125	124					14																	94844865		2203	4300	6503	SO:0001583	missense	0			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"Serine (or cysteine) peptidase inhibitors"	8941	protein-coding gene	gene with protein product	"protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"	107400	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1178C>A	14.37:g.94844865G>T	ENSP00000416066:p.Pro393His		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.P393H	ENST00000448921.1	37	c.1178	CCDS9925.1	14	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853303	0.71719	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399	D;D;D;D;D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85;-4.85	4.47	4.47	0.54385	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.350598	0.24122	N	0.041355	D	0.99453	0.9806	H	0.99325	4.515	0.51767	D	0.999932	D	0.89917	1.0	D	0.97110	1.0	D	0.98003	1.0361	10	0.87932	D	0	.	16.0646	0.80863	0.0:0.0:1.0:0.0	.	393	P01009	A1AT_HUMAN	H	393	ENSP00000390299:P393H;ENSP00000416066:P393H;ENSP00000408474:P393H;ENSP00000348068:P393H;ENSP00000376802:P393H;ENSP00000376803:P393H;ENSP00000385960:P393H;ENSP00000416354:P393H	ENSP00000348068:P393H	P	-	2	0	SERPINA1	93914618	1.000000	0.71417	0.249000	0.24280	0.006000	0.05464	6.447000	0.73465	2.331000	0.79229	0.655000	0.94253	CCC	SERPINA1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197249		0.493	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	-	0	77	0	G	NM_001002235		94844865	-1	tier1	-	no_errors	ENST00000355814	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.999	T	T	94844865	G	T	94844865	3	4	34	1	0	0	0	0	1	0	0	0	14131	1232	43	3	82	3	SERPINA1	14	94844865	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	684182	94844865	12504675	290	8263											
TECPR2	9895	genome.wustl.edu	37	chr14	102931501	102931501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtaaaattgacaagcttgGcatgtggaaatcagcacatc	14	10	9	8	0	1	1	1	1	0	0	2	2	1	2	0	2	2	4	0	2	4	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:102931501G>T	ENST00000359520.7	+	17	3890	c.3664G>T	c.(3664-3666)Gca>Tca	p.A1222S	TECPR2_ENST00000558678.1_Missense_Mutation_p.A1222S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1222					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GACAAGCTTGGCATGTGGAAA	0.423																																																	0													136	136	136					14																	102931501		2203	4300	6503	SO:0001583	missense	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3664G>T	14.37:g.102931501G>T	ENSP00000352510:p.Ala1222Ser		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.A1222S	ENST00000359520.7	37	c.3664	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	4.305	0.055845	0.08291	.	.	ENSG00000196663	ENST00000359520	D	0.81659	-1.52	5.87	2.73	0.32206	.	0.325627	0.32401	N	0.006159	T	0.50752	0.1634	N	0.02916	-0.46	0.32255	N	0.570855	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.08055	0.001;0.002;0.003	T	0.51702	-0.8672	10	0.02654	T	1	.	8.2855	0.31926	0.1295:0.0:0.5645:0.306	.	405;1222;1222	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	S	1222	ENSP00000352510:A1222S	ENSP00000352510:A1222S	A	+	1	0	TECPR2	102001254	0.998000	0.40836	0.971000	0.41717	0.984000	0.73092	0.563000	0.23547	0.807000	0.34208	0.655000	0.94253	GCA	TECPR2	-	superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR	ENSG00000196663		0.423	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2		0	36	0	G	NM_014844		102931501	1			no_errors	ENST00000359520	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.890	T	T	102931501	G	T	102931501	3	4	34	1	0	0	0	0	1	0	0	0	15791	1203	42	3	3726	3	TECPR2	14	102931501	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8086636	102931501	4418039	291	8264											
C14orf73	91828	genome.wustl.edu	37	chr14	103573188	103573188	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccctggtgacggccacCtgcagcttccagaagcactt	9	7	10	15	1	0	2	0	1	0	1	1	2	1	2	5	2	4	3	5	2	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr14:103573188C>A	ENST00000380069.3	+	7	1609	c.1533C>A	c.(1531-1533)acC>acA	p.T511T		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	511					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGACGGCCACCTGCAGCTTCC	0.632																																																	0													38	36	37					14																	103573188		2202	4296	6498	SO:0001819	synonymous_variant	0			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 73"	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1533C>A	14.37:g.103573188C>A			Q14CR2	Silent	SNP	pfam_Sec6	p.T511	ENST00000380069.3	37	c.1533	CCDS32163.1	14																																																																																			EXOC3L4	-	pfam_Sec6	ENSG00000205436		0.632	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1		0	115	0	C	XM_941093		103573188	1			no_errors	ENST00000380069	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.000	A	A	103573188	C	A	103573188	2	1	34	1	0	0	0	0	0	0	0	1	1784	668	24	3		3	C14orf73	14	103573188	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	641687	103573188	3776352	292	8265											
NDN	4692	genome.wustl.edu	37	chr15	23932017	23932017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaaccagatgatcatCttcttctggtccttgaccag	9	13	8	11	0	5	3	1	2	4	1	6	4	6	4	3	2	1	0	3	2	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:23932017C>A	ENST00000331837.4	-	1	433	c.348G>T	c.(346-348)aaG>aaT	p.K116N		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	116	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K116N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATGATCATCTTCTTCTGGT	0.642									Prader-Willi syndrome																																								1	Substitution - Missense(1)	large_intestine(1)											89	82	84					15																	23932017		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.348G>T	15.37:g.23932017C>A	ENSP00000332643:p.Lys116Asn		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K116N	ENST00000331837.4	37	c.348	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436299	0.43224	.	.	ENSG00000182636	ENST00000331837	T	0.06608	3.28	3.7	-1.01	0.10169	.	0.184969	0.42821	D	0.000644	T	0.15046	0.0363	M	0.73217	2.22	0.33121	D	0.541792	D	0.54397	0.966	D	0.64877	0.93	T	0.09997	-1.0649	10	0.87932	D	0	.	4.4694	0.11704	0.0:0.419:0.3477:0.2333	.	116	Q99608	NECD_HUMAN	N	116	ENSP00000332643:K116N	ENSP00000332643:K116N	K	-	3	2	NDN	21483110	0.000000	0.05858	0.240000	0.24138	0.701000	0.40568	-0.679000	0.05203	-0.325000	0.08577	-0.175000	0.13238	AAG	NDN	-	pfam_MAGE,pfscan_MAGE	ENSG00000182636		0.642	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2		0	68	0	C	NM_002487		23932017	-1			no_errors	ENST00000331837	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.820	A	A	23932017	C	A	23932017	3	1	34	1	0	0	0	0	1	0	0	0	10286	912	32	3	621	3	NDN	15	23932017	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09		23932017	78599375	293	8266											
RYR3	6263	genome.wustl.edu	37	chr15	33993251	33993251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggacaacaatgagttagcGctgagcttagaggaaccaga	15	7	12	7	1	0	4	0	2	0	2	0	6	0	6	1	2	4	3	1	2	5	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:33993251G>A	ENST00000389232.4	+	42	6523	c.6453G>A	c.(6451-6453)gcG>gcA	p.A2151A	RYR3_ENST00000415757.3_Silent_p.A2151A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2151	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGAGTTAGCGCTGAGCTTAG	0.567											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62	65	64					15																	33993251		1996	4183	6179	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6453G>A	15.37:g.33993251G>A		844	O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A2151	ENST00000389232.4	37	c.6453	CCDS45210.1	15																																																																																			RYR3	-	pfam_Ca-rel_channel	ENSG00000198838		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	50	0	G			33993251	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	28.30	38	15	SNP	0.007	A	A	33993251	G	A	33993251	2	1	34	1	0	0	0	0	0	0	0	1	13815	1074	38	1		1	RYR3	15	33993251	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	10061234	33993251	68538141	294	8267											
SPTBN5	51332	genome.wustl.edu	37	chr15	42168829	42168829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtgcctggatactctGcagctgctctctgaccctgg	5	11	10	15	0	2	1	0	1	2	0	3	2	2	2	3	2	5	3	3	2	1	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:42168829G>T	ENST00000320955.6	-	20	4095	c.3868C>A	c.(3868-3870)Cag>Aag	p.Q1290K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1290					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGGATACTCTGCAGCTGCTCT	0.672																																																	0													23	27	26					15																	42168829		2008	4145	6153	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3868C>A	15.37:g.42168829G>T	ENSP00000317790:p.Gln1290Lys			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q1290K	ENST00000320955.6	37	c.3868		15	.	.	.	.	.	.	.	.	.	.	.	10.06	1.245674	0.22796	.	.	ENSG00000137877	ENST00000320955	T	0.35048	1.33	4.96	2.95	0.34219	.	1.094560	0.06977	N	0.819209	T	0.31857	0.0810	M	0.62723	1.935	0.09310	N	1	B	0.22909	0.077	B	0.25759	0.063	T	0.44251	-0.9340	10	0.08179	T	0.78	.	5.5641	0.17160	0.1127:0.2216:0.6656:0.0	.	1290	Q9NRC6	SPTN5_HUMAN	K	1290	ENSP00000317790:Q1290K	ENSP00000317790:Q1290K	Q	-	1	0	SPTBN5	39956121	0.142000	0.22610	0.966000	0.40874	0.480000	0.33159	0.757000	0.26433	2.288000	0.76882	0.491000	0.48974	CAG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	50	0	G	NM_016642		42168829	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.446	T	T	42168829	G	T	42168829	3	4	34	1	0	0	0	0	1	0	0	0	15169	1328	46	3	7352	3	SPTBN5	15	42168829	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8175578	42168829	60362563	295	8268											
SPG11	80208	genome.wustl.edu	37	chr15	44951296	44951296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccagcctaaactactCaaaacaaaaagaattcctct	18	8	3	12	0	2	2	1	0	1	2	4	2	4	2	3	0	4	0	3	0	8	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:44951296C>A	ENST00000261866.7	-	3	664	c.648G>T	c.(646-648)ttG>ttT	p.L216F	SPG11_ENST00000427534.2_Missense_Mutation_p.L216F|SPG11_ENST00000535302.2_Missense_Mutation_p.L216F|SPG11_ENST00000558319.1_Missense_Mutation_p.L216F|SPG11_ENST00000559193.1_Missense_Mutation_p.L216F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	216					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTAAACTACTCAAAACAAAAA	0.418																																																	0													117	125	122					15																	44951296		2198	4298	6496	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.648G>T	15.37:g.44951296C>A	ENSP00000261866:p.Leu216Phe		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.L216F	ENST00000261866.7	37	c.648	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378796	0.61735	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.33438	1.41;1.41;1.41	5.93	3.03	0.35002	.	0.000000	0.64402	D	0.000013	T	0.49508	0.1561	M	0.68952	2.095	0.45108	D	0.998124	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.49234	-0.8961	10	0.87932	D	0	.	9.2819	0.37733	0.0:0.7142:0.0:0.2858	.	216;216;216;216	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	F	216	ENSP00000261866:L216F;ENSP00000445278:L216F;ENSP00000396110:L216F	ENSP00000261866:L216F	L	-	3	2	SPG11	42738588	0.996000	0.38824	1.000000	0.80357	0.892000	0.51952	0.162000	0.16501	0.867000	0.35654	-0.145000	0.13849	TTG	SPG11	-	NULL	ENSG00000104133		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1		0	13	0	C			44951296	-1			no_errors	ENST00000261866	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	44951296	C	A	44951296	3	1	34	1	0	0	0	0	1	0	0	0	15088	825	29	3	6835	3	SPG11	15	44951296	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2782467	44951296	57580096	296	8269											
USP8	9101	genome.wustl.edu	37	chr15	50733646	50733646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatatatgaaatacgtgactGtttataatcttatcaaaaaa	18	15	4	4	1	2	2	1	2	1	0	2	2	2	2	0	0	1	1	0	0	11	8			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:50733646G>T	ENST00000396444.3	+	3	543	c.205G>T	c.(205-207)Gtt>Ttt	p.V69F	USP8_ENST00000307179.4_Missense_Mutation_p.V69F|USP8_ENST00000425032.3_Intron|USP8_ENST00000558892.1_3'UTR|USP8_ENST00000433963.1_Missense_Mutation_p.V69F	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	69	MIT.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATACGTGACTGTTTATAATCT	0.343																																																	0													84	82	83					15																	50733646		2196	4294	6490	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.205G>T	15.37:g.50733646G>T	ENSP00000379721:p.Val69Phe		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.V69F	ENST00000396444.3	37	c.205	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.175878	0.94807	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179	T;T;T	0.20598	2.06;2.06;2.06	5.54	5.54	0.83059	Domain of unknown function DUF1873 (1);	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.33214	-0.9877	10	0.72032	D	0.01	-19.4372	19.8426	0.96695	0.0:0.0:1.0:0.0	.	69	P40818	UBP8_HUMAN	F	69	ENSP00000379721:V69F;ENSP00000405537:V69F;ENSP00000302239:V69F	ENSP00000302239:V69F	V	+	1	0	USP8	48520938	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.360000	0.79487	2.751000	0.94390	0.591000	0.81541	GTT	USP8	-	pfam_USP8_dimer	ENSG00000138592		0.343	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0	11	0	G	NM_005154		50733646	1			no_errors	ENST00000307179	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	T	T	50733646	G	T	50733646	3	4	34	1	0	0	0	0	1	0	0	0	17138	1377	48	3	211	3	USP8	15	50733646	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5782350	50733646	51797746	297	8270											
DMXL2	23312	genome.wustl.edu	37	chr15	51791379	51791379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaacagctgagttggatGatattgtggaagagtagggg	11	12	15	3	0	1	3	0	2	1	1	1	5	1	5	0	4	2	3	0	4	4	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:51791379G>A	ENST00000251076.5	-	18	4329	c.4042C>T	c.(4042-4044)Cat>Tat	p.H1348Y	DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.H1348Y	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1348						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGAGTTGGATGATATTGTGGA	0.388																																																	0													79	76	77					15																	51791379		2195	4293	6488	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4042C>T	15.37:g.51791379G>A	ENSP00000251076:p.His1348Tyr		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1348Y	ENST00000251076.5	37	c.4042	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951301	0.73787	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.49432	0.78;0.78	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.977	T	0.78858	-0.2038	10	0.87932	D	0	.	19.736	0.96205	0.0:0.0:1.0:0.0	.	1348;1348	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	Y	1348	ENSP00000251076:H1348Y;ENSP00000441858:H1348Y	ENSP00000251076:H1348Y	H	-	1	0	DMXL2	49578671	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.441000	0.97557	2.669000	0.90835	0.591000	0.81541	CAT	DMXL2	-	NULL	ENSG00000104093		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0	23	0	G	NM_015263		51791379	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	A	A	51791379	G	A	51791379	3	1	34	1	0	0	0	0	1	0	0	0	4609	1290	45	3	5175	3	DMXL2	15	51791379	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1057733	51791379	50740013	298	8271											
CGNL1	84952	genome.wustl.edu	37	chr15	57753971	57753971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagagcgtgaactcaccGccctgaagggagccctgaaa	12	4	13	12	3	1	4	1	3	0	1	1	6	1	5	3	1	4	0	3	1	3	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:57753971G>T	ENST00000281282.5	+	8	2362	c.2284G>T	c.(2284-2286)Gcc>Tcc	p.A762S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	762						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAACTCACCGCCCTGAAGGG	0.512																																																	0													98	95	96					15																	57753971		2192	4292	6484	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2284G>T	15.37:g.57753971G>T	ENSP00000281282:p.Ala762Ser		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.A762S	ENST00000281282.5	37	c.2284	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511690	0.85389	.	.	ENSG00000128849	ENST00000281282	T	0.40756	1.02	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000043	T	0.46983	0.1421	M	0.67700	2.07	0.58432	D	0.999998	B	0.26876	0.162	B	0.25884	0.064	T	0.45190	-0.9278	10	0.56958	D	0.05	-11.3832	19.4354	0.94792	0.0:0.0:1.0:0.0	.	762	Q0VF96	CGNL1_HUMAN	S	762	ENSP00000281282:A762S	ENSP00000281282:A762S	A	+	1	0	CGNL1	55541263	1.000000	0.71417	0.950000	0.38849	0.770000	0.43624	9.397000	0.97276	2.608000	0.88229	0.448000	0.29417	GCC	CGNL1	-	NULL	ENSG00000128849		0.512	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2		0	31	0	G	NM_032866		57753971	1			no_errors	ENST00000281282	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	57753971	G	T	57753971	3	4	34	1	0	0	0	0	1	0	0	0	3311	1087	38	2	2310	2	CGNL1	15	57753971	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5962592	57753971	44777421	299	8272											
CELF6	60677	genome.wustl.edu	37	chr15	72580943	72580943	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctcactggggcataGgccgacggataggctgctgg	6	8	17	10	2	1	0	1	0	0	0	1	2	1	1	1	6	2	5	1	6	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:72580943G>T	ENST00000569547.1	-	10	1181	c.1110C>A	c.(1108-1110)gcC>gcA	p.A370A	CELF6_ENST00000539635.1_Silent_p.A231A|CELF6_ENST00000543764.2_Silent_p.A233A|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'Flank|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Silent_p.A257A|CELF6_ENST00000567083.1_Intron|CELF6_ENST00000287202.5_Silent_p.A370A			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	370					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTGGGGCATAGGCCGACGGAT	0.637																																																	0													63	66	65					15																	72580943		2199	4297	6496	SO:0001819	synonymous_variant	0			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"RNA binding motif (RRM) containing"	14059	protein-coding gene	gene with protein product		612681	"Bruno (Drosophila) -like 6, RNA binding protein", "bruno-like 6, RNA binding protein (Drosophila)"	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1110C>A	15.37:g.72580943G>T			B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A370	ENST00000569547.1	37	c.1110	CCDS10242.1	15																																																																																			CELF6	-	NULL	ENSG00000273025		0.637	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	Uniprot_gn	protein_coding	OTTHUMT00000420180.1	-	0	59	0	G	NM_052840		72580943	-1	tier1	-	no_errors	ENST00000569547	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.998	T	T	72580943	G	T	72580943	2	4	34	1	0	0	0	0	0	0	0	1	3227	987	35	3		3	CELF6	15	72580943	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	14826972	72580943	29950449	300	8273											
IDH2	3418	genome.wustl.edu	37	chr15	90634813	90634813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaactgccagataataCgggtcatctcatcaccatcc	12	10	7	12	1	3	3	3	2	1	1	5	3	4	3	3	1	3	0	3	1	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:90634813C>T	ENST00000330062.3	-	2	292	c.179G>A	c.(178-180)cGt>cAt	p.R60H	IDH2_ENST00000540499.2_Missense_Mutation_p.R8H|IDH2_ENST00000559482.1_Missense_Mutation_p.R60H|IDH2_ENST00000539790.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	60					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CCAGATAATACGGGTCATCTC	0.572			M		GBM																																			Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	0													217	176	190					15																	90634813		2200	4298	6498	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.179G>A	15.37:g.90634813C>T	ENSP00000331897:p.Arg60His		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.R60H	ENST00000330062.3	37	c.179	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600054	0.87055	.	.	ENSG00000182054	ENST00000330062;ENST00000540499	T;T	0.78924	-1.22;-1.22	5.4	4.48	0.54585	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84938	0.5583	M	0.91510	3.215	0.80722	D	1	D;P	0.57571	0.98;0.952	P;B	0.49502	0.613;0.315	D	0.87612	0.2504	10	0.72032	D	0.01	.	11.9221	0.52797	0.0:0.9156:0.0:0.0844	.	60;60	Q53GL5;P48735	.;IDHP_HUMAN	H	60;8	ENSP00000331897:R60H;ENSP00000446147:R8H	ENSP00000331897:R60H	R	-	2	0	IDH2	88435817	1.000000	0.71417	0.831000	0.32960	0.791000	0.44710	6.057000	0.71119	1.283000	0.44513	0.561000	0.74099	CGT	IDH2	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000182054		0.572	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	HGNC	protein_coding	OTTHUMT00000313426.1	-	0	88	0	C			90634813	-1	tier1	-	no_errors	ENST00000330062	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.994	T	T	90634813	C	T	90634813	3	4	34	1	0	0	0	0	1	0	0	0	7522	536	19	1	1219	1	IDH2	15	90634813	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	18053870	90634813	11896579	301	8274											
VPS33B	26276	genome.wustl.edu	37	chr15	91561069	91561069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattggcaattcgatccaaaGggctcatgagatctgcctca	11	10	9	11	1	3	1	2	1	1	1	5	3	4	1	2	2	1	2	2	2	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr15:91561069G>T	ENST00000333371.3	-	2	496	c.143C>A	c.(142-144)cCt>cAt	p.P48H	VPS33B_ENST00000557358.1_Intron|VPS33B_ENST00000535906.1_Intron|VPS33B_ENST00000535843.1_5'UTR	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	48					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					TCGATCCAAAGGGCTCATGAG	0.468																																																	0													136	118	124					15																	91561069		2198	4298	6496	SO:0001583	missense	0			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"vacuolar protein sorting 33B (yeast homolog)"			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.143C>A	15.37:g.91561069G>T	ENSP00000327650:p.Pro48His		B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.P48H	ENST00000333371.3	37	c.143	CCDS10369.1	15	.	.	.	.	.	.	.	.	.	.	G	24.7	4.564719	0.86439	.	.	ENSG00000184056	ENST00000333371;ENST00000537510	T	0.78246	-1.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.88905	0.6564	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.86675	0.1913	10	0.15952	T	0.53	-3.415	17.8351	0.88693	0.0:0.0:1.0:0.0	.	48	Q9H267	VP33B_HUMAN	H	48;3	ENSP00000327650:P48H	ENSP00000327650:P48H	P	-	2	0	VPS33B	89362073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.942000	0.75928	2.573000	0.86826	0.462000	0.41574	CCT	VPS33B	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000184056		0.468	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	HGNC	protein_coding	OTTHUMT00000313496.1		0	29	0	G	NM_018668		91561069	-1			no_errors	ENST00000333371	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	91561069	G	T	91561069	3	4	34	1	0	0	0	0	1	0	0	0	17251	1000	35	3	1798	3	VPS33B	15	91561069	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	926256	91561069	10970323	302	8275											
SNRNP25	79622	genome.wustl.edu	37	chr16	105489	105489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtcaactcccaaataGccctagaatacggccaggca	16	5	8	12	1	1	2	1	0	0	2	2	2	2	2	3	2	3	1	3	2	8	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:105489G>T	ENST00000383018.3	+	2	261	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	SNRNP25_ENST00000493672.1_3'UTR|POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	34					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)		p.A34S(1)		large_intestine(1)|lung(2)	3						CTCCCAAATAGCCCTAGAATA	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											207	180	189					16																	105489		2203	4300	6503	SO:0001583	missense	0			BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"U11/U12 snRNP 25K"		"chromosome 16 open reading frame 33"	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.100G>T	16.37:g.105489G>T	ENSP00000372482:p.Ala34Ser		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.A34S	ENST00000383018.3	37	c.100	CCDS10396.1	16	.	.	.	.	.	.	.	.	.	.	.	15.08	2.728610	0.48833	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	.	.	.	5.58	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.61387	1.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75918	-0.3148	9	0.48119	T	0.1	-14.2556	13.1714	0.59599	0.0772:0.0:0.9228:0.0	.	34	Q9BV90	SNR25_HUMAN	S	25;34;25	.	ENSP00000293861:A25S	A	+	1	0	SNRNP25	45489	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	8.545000	0.90657	1.379000	0.46325	-0.251000	0.11542	GCC	SNRNP25	-	NULL	ENSG00000161981		0.498	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNRNP25	HGNC	protein_coding			0	51	0	G	NM_024571		105489	1			no_errors	ENST00000383018	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	105489	G	T	105489	3	4	34	1	0	0	0	0	1	0	0	0	14898	971	34	3	106	3	SNRNP25	16	105489	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		105489	90249264	303	8276											
SOLH	6650	genome.wustl.edu	37	chr16	601640	601640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgagggtgtcttctGgatggagtacggcgactttg	7	11	16	7	2	2	1	0	1	2	0	2	4	2	3	0	4	2	2	0	4	1	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:601640G>T	ENST00000219611.2	+	9	2684	c.2321G>T	c.(2320-2322)tGg>tTg	p.W774L	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	774	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGTGTCTTCTGGATGGAGTAC	0.667																																																	0													40	48	45					16																	601640		2200	4296	6496	SO:0001583	missense	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2321G>T	16.37:g.601640G>T	ENSP00000219611:p.Trp774Leu		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.W774L	ENST00000219611.2	37	c.2321	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	28.2	4.897744	0.91962	.	.	ENSG00000103326	ENST00000219611	D	0.93189	-3.18	5.26	5.26	0.73747	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99816	1.1044	10	0.87932	D	0	.	17.4216	0.87516	0.0:0.0:1.0:0.0	.	774	O75808	CAN15_HUMAN	L	774	ENSP00000219611:W774L	ENSP00000219611:W774L	W	+	2	0	SOLH	541641	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	9.749000	0.98871	2.463000	0.83235	0.556000	0.70494	TGG	CAPN15	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000103326		0.667	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1	-	0	51	0	G	NM_005632		601640	1	tier1	-	no_errors	ENST00000219611	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	601640	G	T	601640	3	4	34	1	0	0	0	0	1	0	0	0	14970	1357	47	3	2343	3	SOLH	16	601640	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	496151	601640	89753113	304	8277											
C16orf73	254528	genome.wustl.edu	37	chr16	1904192	1904192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagttgtaaagtattttgGctctccaaccttagaaatgg	12	14	9	6	0	1	2	0	1	1	1	2	2	1	2	2	2	1	4	2	2	7	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:1904192G>T	ENST00000397344.3	-	7	732	c.538C>A	c.(538-540)Cca>Aca	p.P180T	MEIOB_ENST00000325962.3_Missense_Mutation_p.P180T|MEIOB_ENST00000452149.2_Missense_Mutation_p.P180T|MEIOB_ENST00000470044.1_5'UTR|MEIOB_ENST00000412554.2_Missense_Mutation_p.P180T	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains	180					double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										AAGTATTTTGGCTCTCCAACC	0.358																																																	0													144	118	126					16																	1904192		692	1591	2283	SO:0001583	missense	0			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 73"	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683	ENST00000397344.3:c.538C>A	16.37:g.1904192G>T	ENSP00000380504:p.Pro180Thr		B1AK39|C9J0S1|Q96RY0	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.P180T	ENST00000397344.3	37	c.538	CCDS10449.2	16	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431448	0.12045	.	.	ENSG00000162039	ENST00000412554;ENST00000452149;ENST00000325962;ENST00000397344	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.38	4.4	0.53042	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.447853	0.19223	U	0.119637	T	0.12860	0.0312	L	0.46157	1.445	0.51233	D	0.999919	B;B	0.29988	0.001;0.264	B;B	0.21151	0.004;0.033	T	0.02639	-1.1130	10	0.05620	T	0.96	.	12.7754	0.57443	0.0:0.0:0.8362:0.1638	.	180;180	C9J0S1;Q8N635	.;CP073_HUMAN	T	180	ENSP00000390778:P180T;ENSP00000391033:P180T;ENSP00000314484:P180T;ENSP00000380504:P180T	ENSP00000314484:P180T	P	-	1	0	C16orf73	1844193	0.986000	0.35501	0.992000	0.48379	0.992000	0.81027	1.603000	0.36794	1.219000	0.43474	0.563000	0.77884	CCA	MEIOB	-	superfamily_NA-bd_OB-fold	ENSG00000162039		0.358	MEIOB-001	KNOWN	basic|CCDS	protein_coding	MEIOB	HGNC	protein_coding	OTTHUMT00000250580.1		0	22	0	G	NM_152764		1904192	-1			no_errors	ENST00000325962	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.995	T	T	1904192	G	T	1904192	3	4	34	1	0	0	0	0	1	0	0	0	1837	1203	42	3	909	3	C16orf73	16	1904192	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1302552	1904192	88450561	305	8278											
CORO7	79585	genome.wustl.edu	37	chr16	4409313	4409313	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgtgggggtcaggcGacgtgaagctgttgcactcc	6	10	14	11	2	2	1	2	1	0	0	3	2	3	1	2	3	2	3	2	3	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:4409313G>T	ENST00000251166.4	-	23	2469	c.2324C>A	c.(2323-2325)tCg>tAg	p.S775*	CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.S775*|CORO7_ENST00000537233.2_Nonsense_Mutation_p.S757*|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Nonsense_Mutation_p.S690*|CORO7_ENST00000539968.1_Nonsense_Mutation_p.S555*	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	775					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGGGTCAGGCGACGTGAAGCT	0.657											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50	43	45					16																	4409313		2194	4298	6492	SO:0001587	stop_gained	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2324C>A	16.37:g.4409313G>T	ENSP00000251166:p.Ser775*	618	B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S775*	ENST00000251166.4	37	c.2324	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	G	44	10.823892	0.99473	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	.	.	.	5.72	5.72	0.89469	.	1.138180	0.06484	N	0.733411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.1459	19.4755	0.94985	0.0:0.0:1.0:0.0	.	.	.	.	X	775;690;555	.	ENSP00000251166:S775X	S	-	2	0	CORO7	4349314	1.000000	0.71417	0.027000	0.17364	0.003000	0.03518	8.765000	0.91724	2.704000	0.92352	0.655000	0.94253	TCG	CORO7-PAM16	-	pfam_DUF1900	ENSG00000103426		0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0	90	0	G	NM_024535		4409313	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.986	T	T	4409313	G	T	4409313	4	4	34	1	0	0	0	0	0	1	0	0	3766	1059	37	2	477	2	CORO7	16	4409313	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2505121	4409313	85945440	306	8279											
USP7	7874	genome.wustl.edu	37	chr16	8996332	8996332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatcgaatttgatcttgtGgaaatccctgaaaaaaatat	17	12	6	6	1	1	2	0	2	1	0	3	4	2	3	1	1	0	0	1	1	7	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:8996332G>T	ENST00000344836.4	-	17	2045	c.1847C>A	c.(1846-1848)cCa>cAa	p.P616Q	USP7_ENST00000535863.1_Missense_Mutation_p.P517Q|USP7_ENST00000381886.4_Missense_Mutation_p.P600Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	616					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTGATCTTGTGGAAATCCCTG	0.323																																																	0													58	52	54					16																	8996332		2197	4300	6497	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1847C>A	16.37:g.8996332G>T	ENSP00000343535:p.Pro616Gln		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.P616Q	ENST00000344836.4	37	c.1847	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119733	0.56613	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.08008	3.14;3.18	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.12390	0.0301	L	0.58428	1.81	0.80722	D	1	B;B	0.22080	0.064;0.064	B;B	0.12837	0.008;0.008	T	0.04664	-1.0935	10	0.36615	T	0.2	.	18.7609	0.91851	0.0:0.0:1.0:0.0	.	616;600	Q93009;B7Z815	UBP7_HUMAN;.	Q	616;624;517;517	ENSP00000343535:P616Q;ENSP00000443646:P517Q	ENSP00000343535:P616Q	P	-	2	0	USP7	8903833	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.695000	0.98691	2.503000	0.84419	0.555000	0.69702	CCA	USP7	-	NULL	ENSG00000187555		0.323	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0	10	0	G			8996332	-1			no_errors	ENST00000344836	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	8996332	G	T	8996332	3	4	34	1	0	0	0	0	1	0	0	0	17137	1348	47	3	1521	3	USP7	16	8996332	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4587019	8996332	81358421	307	8280											
USP7	7874	genome.wustl.edu	37	chr16	8997212	8997212	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttcactttttcttcatcGtacatgtcattcccttggtg	6	20	5	10	1	4	0	3	0	1	0	6	0	5	0	1	1	1	1	1	1	2	8	rs374321309		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:8997212G>C	ENST00000344836.4	-	16	1950	c.1752C>G	c.(1750-1752)taC>taG	p.Y584*	USP7_ENST00000535863.1_Nonsense_Mutation_p.Y485*|USP7_ENST00000381886.4_Nonsense_Mutation_p.Y568*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	584					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Y584Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TTTCTTCATCGTACATGTCAT	0.428																																																	1	Substitution - coding silent(1)	large_intestine(1)											144	120	128					16																	8997212		2197	4300	6497	SO:0001587	stop_gained	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1752C>G	16.37:g.8997212G>C	ENSP00000343535:p.Tyr584*		A6NMY8|B7Z815|H0Y3G8	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.Y584*	ENST00000344836.4	37	c.1752	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	g	40	8.388127	0.98789	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	.	.	.	5.35	-5.53	0.02552	.	0.055415	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.859	0.70366	0.7686:0.0:0.2314:0.0	.	.	.	.	X	584;592;485;485	.	ENSP00000343535:Y584X	Y	-	3	2	USP7	8904713	0.097000	0.21791	0.901000	0.35422	0.969000	0.65631	-0.319000	0.08039	-0.980000	0.03524	-0.372000	0.07161	TAC	USP7	-	NULL	ENSG00000187555		0.428	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0	31	0	G			8997212	-1			no_errors	ENST00000344836	ensembl	human	known	74_37	nonsense	8.33	21	2	SNP	0.571	C	C	8997212	G	C	8997212	4	2	34	1	0	0	0	0	0	1	0	0	17137	1140	40	5	1620	5	USP7	16	8997212	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	880	8997212	81357541	308	8281											
GRIN2A	2903	genome.wustl.edu	37	chr16	9858548	9858548	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccaaaaatgctctctttCccctgaaaggacctgttgtc	9	13	6	13	0	2	1	0	1	2	0	6	2	3	2	4	1	1	2	4	1	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:9858548C>A	ENST00000396573.2	-	14	3162	c.2853G>T	c.(2851-2853)ggG>ggT	p.G951G	GRIN2A_ENST00000396575.2_Silent_p.G951G|GRIN2A_ENST00000535259.1_Silent_p.G794G|GRIN2A_ENST00000404927.2_Silent_p.G951G|GRIN2A_ENST00000562109.1_Silent_p.G951G|GRIN2A_ENST00000330684.3_Silent_p.G951G	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	951					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTCTCTTTCCCCTGAAAGG	0.443																																																	0													186	167	173					16																	9858548		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2853G>T	16.37:g.9858548C>A			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G951	ENST00000396573.2	37	c.2853	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.443	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3		0	30	0	C			9858548	-1			no_errors	ENST00000330684	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.984	A	A	9858548	C	A	9858548	2	1	34	1	0	0	0	0	0	0	0	1	6806	842	30	3		3	GRIN2A	16	9858548	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	861336	9858548	80496205	309	8282											
MKL2	57496	genome.wustl.edu	37	chr16	14234591	14234592	+	Frame_Shift_Ins	INS	-	-	A																															ttgcagtccagtcaaaacttINSaccccctctgaacgaaagga																										TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:14234591_14234592insA	ENST00000574045.1	+	3	283_284	c.128_129insA	c.(127-132)ttacccfs	p.P44fs	MKL2_ENST00000571589.1_Frame_Shift_Ins_p.P44fs|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.P44fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTCAAAACTTACCCCCTCTGA	0.465																																																	0																																										SO:0001589	frameshift_variant	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.129dupA	16.37:g.14234592_14234592dupA	ENSP00000459205:p.Pro44fs		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Ins	INS	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.P44fs	ENST00000574045.1	37	c.128_129	CCDS32391.1	16																																																																																			MKL2	-	NULL	ENSG00000186260		0.465	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MKL2	HGNC	protein_coding	OTTHUMT00000436622.1		0	41	0	-	NM_014048		14234592	1	tier1		no_errors	ENST00000318282	ensembl	human	known	74_37	frame_shift_ins	40.82	29	20	INS	0.954:0.947	A	A	14234592	-	A	14234591	7	5	34	1	0	1	1	0	0	0	0	0	9640	1764	61	0	130	0	MKL2	16	14234591	Frame_Shift_Ins	INS	-	TCGA-JY-A6F8-01A-11D-A33E-09	4376043	14234591	76120162	310	8283											
ZNF646	9726	genome.wustl.edu	37	chr16	31090991	31090991	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggttgggcccatcccaGaggcagcaggtagcagtgag	9	5	15	12	0	0	2	0	1	0	1	1	2	1	2	3	4	2	5	3	4	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:31090991G>T	ENST00000394979.2	+	1	3769	c.3346G>T	c.(3346-3348)Gag>Tag	p.E1116*	ZNF646_ENST00000300850.5_Nonsense_Mutation_p.E1116*			O15015	ZN646_HUMAN	zinc finger protein 646	1116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCCATCCCAGAGGCAGCAGG	0.637																																																	0													53	60	58					16																	31090991		2197	4300	6497	SO:0001587	stop_gained	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3346G>T	16.37:g.31090991G>T	ENSP00000378429:p.Glu1116*		Q8IVD8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1116*	ENST00000394979.2	37	c.3346		16	.	.	.	.	.	.	.	.	.	.	G	44	10.560943	0.99428	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	.	.	.	5.75	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-2.5753	14.9665	0.71198	0.0:0.2708:0.7292:0.0	.	.	.	.	X	1116	.	ENSP00000300850:E1116X	E	+	1	0	ZNF646	30998492	0.000000	0.05858	0.921000	0.36526	0.212000	0.24457	-0.378000	0.07446	1.403000	0.46800	0.563000	0.77884	GAG	ZNF646	-	NULL	ENSG00000167395		0.637	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	68	0	G	NM_014699		31090991	1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	0.300	T	T	31090991	G	T	31090991	4	4	34	1	0	0	0	0	0	1	0	0	18110	943	33	3	3348	3	ZNF646	16	31090991	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	16856400	31090991	59263762	311	8284											
LONP2	83752	genome.wustl.edu	37	chr16	48368153	48368153	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacacatcttagaagatGaaaaacctgaatctatcagt	18	9	7	7	0	3	5	1	2	2	3	3	6	3	5	1	0	2	0	1	0	7	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:48368153G>T	ENST00000285737.4	+	12	1915	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*	LONP2_ENST00000535754.1_Nonsense_Mutation_p.E564*	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTAGAAGATGAAAAACCTGA	0.383																																																	0													125	116	119					16																	48368153		2200	4300	6500	SO:0001587	stop_gained	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1822G>T	16.37:g.48368153G>T	ENSP00000285737:p.Glu608*			Nonsense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.E608*	ENST00000285737.4	37	c.1822	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.461822	0.96240	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	.	.	.	5.36	1.01	0.19927	.	0.970884	0.08558	N	0.927991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	0.0441	4.9819	0.14170	0.3011:0.0:0.567:0.1319	.	.	.	.	X	608;337;564;564	.	ENSP00000285737:E608X	E	+	1	0	LONP2	46925654	0.835000	0.29415	0.084000	0.20598	0.924000	0.55760	0.473000	0.22132	-0.031000	0.13781	0.655000	0.94253	GAA	LONP2	-	tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.383	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2		0	18	0	G	NM_031490		48368153	1			no_errors	ENST00000285737	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	0.450	T	T	48368153	G	T	48368153	4	4	34	1	0	0	0	0	0	1	0	0	8928	1291	45	3	1868	3	LONP2	16	48368153	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	17277162	48368153	41986600	312	8285											
SALL1	6299	genome.wustl.edu	37	chr16	51175812	51175812	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaggtcgctgcagtccacTtgatctgttttgttaactgt	8	15	10	8	1	1	1	0	1	1	0	3	2	2	1	1	1	2	4	1	1	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:51175812T>C	ENST00000251020.4	-	2	354	c.321A>G	c.(319-321)caA>caG	p.Q107Q	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.Q10Q|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	107					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCAGTCCACTTGATCTGTTT	0.517																																					GBM(103;1352 1446 1855 4775 8890)												0													116	119	118					16																	51175812		2198	4300	6498	SO:0001819	synonymous_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.321A>G	16.37:g.51175812T>C			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q107	ENST00000251020.4	37	c.321	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	109	0	T	NM_002968		51175812	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	silent	39.02	50	32	SNP	0.999	C	C	51175812	T	C	51175812	2	2	34	1	0	0	0	0	0	0	0	1	13855	1606	56	4		4	SALL1	16	51175812	Silent	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	2807659	51175812	39178941	313	8286											
FHOD1	29109	genome.wustl.edu	37	chr16	67263792	67263792	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagaaggtccatgatctCatctgatgtatcactgggta	11	11	9	10	0	3	3	2	2	2	1	5	3	4	3	2	2	0	2	2	2	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:67263792C>A	ENST00000258201.4	-	21	3563	c.3316G>T	c.(3316-3318)Gag>Tag	p.E1106*	AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000409509.1_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1106	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCCATGATCTCATCTGATGTA	0.572																																																	0													75	77	76					16																	67263792		2198	4300	6498	SO:0001587	stop_gained	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3316G>T	16.37:g.67263792C>A	ENSP00000258201:p.Glu1106*		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Nonsense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.E1106*	ENST00000258201.4	37	c.3316	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	C	42	9.491949	0.99186	.	.	ENSG00000135723	ENST00000258201	.	.	.	5.46	5.46	0.80206	.	0.048995	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0541	0.89358	0.0:1.0:0.0:0.0	.	.	.	.	X	1106	.	ENSP00000258201:E1106X	E	-	1	0	FHOD1	65821293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.373000	0.79623	2.840000	0.97914	0.655000	0.94253	GAG	FHOD1	-	NULL	ENSG00000135723		0.572	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	-	0	66	0	C			67263792	-1	tier1	-	no_errors	ENST00000258201	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	A	A	67263792	C	A	67263792	4	1	34	1	0	0	0	0	0	1	0	0	5904	835	29	3	186	3	FHOD1	16	67263792	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	16087980	67263792	23090961	314	8287											
FUK	197258	genome.wustl.edu	37	chr16	70500056	70500056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagacttcccctttgatGactgtggcagggctttcacc	6	12	11	12	1	1	3	1	2	0	1	3	4	2	3	3	2	0	2	3	2	0	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:70500056G>T	ENST00000288078.6	+	5	539	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	FUK_ENST00000378912.2_Missense_Mutation_p.D135Y|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Missense_Mutation_p.D86Y	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	103						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCCCTTTGATGACTGTGGCAG	0.617																																																	0													69	73	72					16																	70500056		1951	4135	6086	SO:0001583	missense	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.307G>T	16.37:g.70500056G>T	ENSP00000288078:p.Asp103Tyr		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.D135Y	ENST00000288078.6	37	c.403	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208482	0.79240	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.33654	1.4;1.4;1.4	5.58	5.58	0.84498	L-fucokinase (1);	0.192959	0.46758	D	0.000269	T	0.57607	0.2065	L	0.60455	1.87	0.39491	D	0.968048	D;D;D	0.71674	0.997;0.998;0.998	D;P;D	0.70487	0.937;0.904;0.969	T	0.51140	-0.8743	10	0.34782	T	0.22	-22.257	19.9641	0.97260	0.0:0.0:1.0:0.0	.	86;135;103	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	Y	103;135;86	ENSP00000288078:D103Y;ENSP00000368192:D135Y;ENSP00000408007:D86Y	ENSP00000288078:D103Y	D	+	1	0	FUK	69057557	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.925000	0.70062	2.813000	0.96785	0.655000	0.94253	GAC	FUK	-	pfam_Fucokinase	ENSG00000157353		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	-	0	98	0	G	NM_145059		70500056	1	tier1	-	no_errors	ENST00000378912	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	T	T	70500056	G	T	70500056	3	4	34	1	0	0	0	0	1	0	0	0	6120	1290	45	3	321	3	FUK	16	70500056	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3236264	70500056	19854697	315	8288											
KIAA0513	9764	genome.wustl.edu	37	chr16	85111135	85111135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgaaaagaaggacatcGccgagcggctgctgaagaac	13	4	14	10	4	0	3	0	1	0	2	1	6	0	4	2	3	3	2	2	3	5	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:85111135G>A	ENST00000566428.1	+	6	1310	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	KIAA0513_ENST00000538274.1_Missense_Mutation_p.A227T|KIAA0513_ENST00000567328.1_Missense_Mutation_p.A227T|KIAA0513_ENST00000258180.3_Missense_Mutation_p.A227T			O60268	K0513_HUMAN	KIAA0513	227						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GAAGGACATCGCCGAGCGGCT	0.637																																																	0													36	43	41					16																	85111135		2198	4300	6498	SO:0001583	missense	0			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.679G>A	16.37:g.85111135G>A	ENSP00000457408:p.Ala227Thr		B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.A227T	ENST00000566428.1	37	c.679	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736948	0.89482	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.36157	1.27;1.27	5.4	5.4	0.78164	.	0.051644	0.85682	D	0.000000	T	0.43433	0.1247	L	0.34521	1.04	0.54753	D	0.999986	D;D	0.65815	0.995;0.991	P;P	0.53954	0.738;0.551	T	0.31696	-0.9934	10	0.54805	T	0.06	-8.6431	17.7598	0.88461	0.0:0.0:1.0:0.0	.	227;227	B4DSS5;O60268	.;K0513_HUMAN	T	227	ENSP00000446439:A227T;ENSP00000258180:A227T	ENSP00000258180:A227T	A	+	1	0	KIAA0513	83668636	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	8.991000	0.93514	2.526000	0.85167	0.561000	0.74099	GCC	KIAA0513	-	NULL	ENSG00000135709		0.637	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	-	0	230	0	G	NM_014732		85111135	1	tier1	-	no_errors	ENST00000258180	ensembl	human	known	74_37	missense	30.00	77	33	SNP	0.998	A	A	85111135	G	A	85111135	3	1	34	1	0	0	0	0	1	0	0	0	8208	1087	38	1	697	1	KIAA0513	16	85111135	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	14611079	85111135	5243618	316	8289											
ZCCHC14	23174	genome.wustl.edu	37	chr16	87445847	87445847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggggcccactggcataCtgctcattgcagaaaaggca	11	6	13	11	0	1	1	1	0	0	1	1	1	1	1	1	4	3	5	1	4	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:87445847C>T	ENST00000268616.4	-	12	2286	c.2069G>A	c.(2068-2070)aGt>aAt	p.S690N		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	690							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTGGCATACTGCTCATTGC	0.542																																																	0													50	60	57					16																	87445847		2198	4299	6497	SO:0001583	missense	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"Zinc fingers, CCHC domain containing", "Sterile alpha motif (SAM) domain containing"	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2069G>A	16.37:g.87445847C>T	ENSP00000268616:p.Ser690Asn		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S690N	ENST00000268616.4	37	c.2069	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	C	19.74	3.882967	0.72410	.	.	ENSG00000140948	ENST00000268616	T	0.24350	1.86	4.92	4.92	0.64577	.	0.066541	0.64402	D	0.000007	T	0.37156	0.0993	L	0.32530	0.975	0.34623	D	0.718801	D;D	0.60575	0.988;0.979	P;P	0.57911	0.829;0.679	T	0.50550	-0.8815	10	0.62326	D	0.03	-16.8437	18.1486	0.89667	0.0:1.0:0.0:0.0	.	690;690	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	N	690	ENSP00000268616:S690N	ENSP00000268616:S690N	S	-	2	0	ZCCHC14	86003348	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.728000	0.68531	2.274000	0.75844	0.467000	0.42956	AGT	ZCCHC14	-	NULL	ENSG00000140948		0.542	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	-	0	114	0	C	NM_015144		87445847	-1	tier1	-	no_errors	ENST00000268616	ensembl	human	known	74_37	missense	26.56	47	17	SNP	1.000	T	T	87445847	C	T	87445847	3	4	34	1	0	0	0	0	1	0	0	0	17631	565	20	3	788	3	ZCCHC14	16	87445847	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2334712	87445847	2908906	317	8290											
CTU2	9780	genome.wustl.edu	37	chr16	88779039	88779039	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccggaaggtgttcagcCtgccaccgtcggtgctttgg	5	10	13	13	3	1	0	1	0	0	0	3	1	2	1	4	4	3	2	4	4	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr16:88779039C>T	ENST00000301015.9	-	0	8072				CTU2_ENST00000453996.2_Silent_p.L155L|CTU2_ENST00000567949.1_Silent_p.L226L|CTU2_ENST00000378384.3_Silent_p.L68L|CTU2_ENST00000312060.5_Silent_p.L155L	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GGTGTTCAGCCTGCCACCGTC	0.682																																																	0													27	34	32					16																	88779039		2198	4296	6494	SO:0001628	intergenic_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779039C>T			A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	pfam_Thiouridylase_cyt_su2	p.L226	ENST00000301015.9	37	c.676	CCDS54058.1	16																																																																																			CTU2	-	NULL	ENSG00000174177		0.682	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000345699.4	-	0	162	0	C	NM_014745		88779039	1	tier1	-	no_errors	ENST00000567949	ensembl	human	known	74_37	silent	25.37	50	17	SNP	0.574	T	T	88779039	C	T	88779039	1	4	34	0	1	0	0	0	0	0	0	0	4057	680	24	3		3	CTU2	16	88779039	IGR	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1333192	88779039	1575714	318	8291											
GSG2	83903	genome.wustl.edu	37	chr17	3629165	3629165	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcatcactgcgctttGagcaccgagacttacactgg	10	8	11	12	2	1	3	1	1	0	2	1	4	1	3	1	2	3	3	1	2	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:3629165G>T	ENST00000325418.4	+	1	1955	c.1936G>T	c.(1936-1938)Gag>Tag	p.E646*	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	646	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										ACTGCGCTTTGAGCACCGAGA	0.522																																																	0													95	83	87					17																	3629165		2203	4300	6503	SO:0001587	stop_gained	0			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1936G>T	17.37:g.3629165G>T	ENSP00000325290:p.Glu646*		Q5U5K3|Q96MN1|Q9BXS7	Nonsense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.E646*	ENST00000325418.4	37	c.1936	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.421786	0.97555	.	.	ENSG00000177602	ENST00000325418	.	.	.	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.6675	15.6646	0.77217	0.0:0.0:1.0:0.0	.	.	.	.	X	646	.	ENSP00000325290:E646X	E	+	1	0	GSG2	3575914	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.894000	0.63206	2.565000	0.86533	0.655000	0.94253	GAG	GSG2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000177602		0.522	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	-	0	40	0	G	NM_031965		3629165	1	tier1	-	no_errors	ENST00000325418	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	1.000	T	T	3629165	G	T	3629165	4	4	34	1	0	0	0	0	0	1	0	0	6849	1291	45	3	1938	3	GSG2	17	3629165	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		3629165	77566045	319	8292											
CAMTA2	23125	genome.wustl.edu	37	chr17	4872451	4872451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctgggccctacttgttgCgggcaggcagggtggccgaa	5	7	19	10	2	0	0	0	0	0	0	0	1	0	0	2	6	2	4	2	6	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:4872451C>T	ENST00000348066.3	-	21	3587	c.3464G>A	c.(3463-3465)cGc>cAc	p.R1155H	SPAG7_ENST00000206020.3_5'Flank|RP5-1050D4.3_ENST00000576752.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1150H|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1160H|SPAG7_ENST00000573366.1_5'Flank|SPAG7_ENST00000575142.1_5'Flank|SPAG7_ENST00000571023.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1148H|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1178H|CAMTA2_ENST00000361571.5_Missense_Mutation_p.R1154H	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1155					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTACTTGTTGCGGGCAGGCAG	0.667																																																	0													23	26	25					17																	4872451		2198	4292	6490	SO:0001583	missense	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.3464G>A	17.37:g.4872451C>T	ENSP00000321813:p.Arg1155His		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.R1178H	ENST00000348066.3	37	c.3533	CCDS11063.1	17	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306025	0.60305	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.32988	2.59;1.69;1.43;1.69;1.44	4.21	4.21	0.49690	.	0.650137	0.14274	N	0.329946	T	0.43853	0.1266	L	0.29908	0.895	0.39329	D	0.96537	B;D;D;B	0.76494	0.056;0.999;0.998;0.093	B;D;D;B	0.77004	0.003;0.989;0.976;0.005	T	0.44236	-0.9341	10	0.66056	D	0.02	-11.569	14.1245	0.65210	0.0:1.0:0.0:0.0	.	1178;1150;1155;1154	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	H	1178;1150;1154;1148;1155	ENSP00000412886:R1178H;ENSP00000370712:R1150H;ENSP00000354828:R1154H;ENSP00000350910:R1148H;ENSP00000321813:R1155H	ENSP00000321813:R1155H	R	-	2	0	CAMTA2	4813175	0.123000	0.22298	0.440000	0.26846	0.760000	0.43138	1.943000	0.40253	2.189000	0.69895	0.563000	0.77884	CGC	CAMTA2	-	superfamily_P-loop_NTPase	ENSG00000108509		0.667	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	-	0	116	0	C	NM_015099		4872451	-1	tier1	-	no_errors	ENST00000414043	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.988	T	T	4872451	C	T	4872451	3	4	34	1	0	0	0	0	1	0	0	0	2621	768	27	1	206	1	CAMTA2	17	4872451	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1243286	4872451	76322759	320	8293											
C1QBP	708	genome.wustl.edu	37	chr17	5336678	5336678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagactcgccagtggactGaaagctaacttccctgatag	11	10	9	11	1	1	3	1	2	0	1	3	4	2	4	2	1	2	1	2	1	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:5336678G>T	ENST00000225698.4	-	5	715	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	C1QBP_ENST00000574444.1_Missense_Mutation_p.Q108K|CTC-524C5.2_ENST00000575890.1_RNA	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	212	Interaction with MAVS.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	CCAGTGGACTGAAAGCTAACT	0.468																																																	0													117	115	116					17																	5336678		2203	4300	6503	SO:0001583	missense	0			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"C1q globular domain-binding protein", "hyaluronan-binding protein 1", "splicing factor SF2-associated protein"	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.634C>A	17.37:g.5336678G>T	ENSP00000225698:p.Gln212Lys		Q2HXR8|Q9NNY8	Missense_Mutation	SNP	pfam_MAM33,superfamily_MAM33	p.Q212K	ENST00000225698.4	37	c.634	CCDS11071.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464871	0.84425	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.79123	2.44	0.80722	D	1	P	0.51147	0.942	P	0.51833	0.681	T	0.71388	-0.4608	9	0.29301	T	0.29	-23.6844	17.687	0.88258	0.0:0.0:1.0:0.0	.	212	Q07021	C1QBP_HUMAN	K	212	.	ENSP00000225698:Q212K	Q	-	1	0	C1QBP	5277402	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.493000	0.97960	2.655000	0.90218	0.655000	0.94253	CAG	C1QBP	-	pfam_MAM33,superfamily_MAM33	ENSG00000108561		0.468	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QBP	HGNC	protein_coding	OTTHUMT00000439388.1		0	20	0	G	NM_001212		5336678	-1			no_errors	ENST00000225698	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	5336678	G	T	5336678	3	4	34	1	0	0	0	0	1	0	0	0	1963	1299	45	3	222	3	C1QBP	17	5336678	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	464227	5336678	75858532	321	8294											
TP53	7157	genome.wustl.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3	rs397516435		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R196*	ENST00000269305.4	37	c.586	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	126	0	G	NM_000546		7578263	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	70.00	15	35	SNP	1.000	A	A	7578263	G	A	7578263	4	1	34	1	0	0	0	0	0	1	0	0	16429	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2241585	7578263	73616947	322	8295											
KRT23	25984	genome.wustl.edu	37	chr17	39092550	39092550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtgccatttcaggatgcgGctttccagcttcatgttggc	5	14	12	10	1	2	0	2	0	0	0	3	1	3	1	2	4	3	3	2	4	0	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:39092550G>T	ENST00000209718.3	-	2	730	c.306C>A	c.(304-306)agC>agA	p.S102R	KRT23_ENST00000582283.1_5'Flank|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	102	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TCAGGATGCGGCTTTCCAGCT	0.542																																																	0													94	96	95					17																	39092550		2203	4300	6503	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.306C>A	17.37:g.39092550G>T	ENSP00000209718:p.Ser102Arg		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.S102R	ENST00000209718.3	37	c.306	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527795	0.27299	.	.	ENSG00000108244	ENST00000209718	D	0.88741	-2.42	5.73	-6.84	0.01687	Filament (1);	0.179938	0.39083	N	0.001468	D	0.83188	0.5200	L	0.49699	1.58	0.09310	N	1	P	0.46784	0.884	P	0.47528	0.549	T	0.78280	-0.2265	10	0.13853	T	0.58	.	11.9888	0.53163	0.216:0.0857:0.6983:0.0	.	102	Q9C075	K1C23_HUMAN	R	102	ENSP00000209718:S102R	ENSP00000209718:S102R	S	-	3	2	KRT23	36346076	0.000000	0.05858	0.000000	0.03702	0.780000	0.44128	-0.100000	0.10990	-1.116000	0.02969	-0.259000	0.10710	AGC	KRT23	-	pfam_IF	ENSG00000108244		0.542	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1	-	0	105	0	G			39092550	-1	tier1	-	no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.010	T	T	39092550	G	T	39092550	3	4	34	1	0	0	0	0	1	0	0	0	8487	1194	42	3	994	3	KRT23	17	39092550	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	31514287	39092550	42102660	323	8296											
CRHR1	1394	genome.wustl.edu	37	chr17	43898768	43898768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagctgggccgcccgcGtgaattactccgagtgccag	7	7	14	13	4	0	1	0	1	0	0	1	2	1	1	4	2	3	2	4	2	2	1	rs375123636		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:43898768G>A	ENST00000398285.3	+	4	289	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	CRHR1_ENST00000352855.5_Missense_Mutation_p.V57M|CRHR1_ENST00000314537.5_Missense_Mutation_p.V97M|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.V97M|CRHR1_ENST00000339069.5_Intron	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	97					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCCGCCCGCGTGAATTACTC	0.632																																					Ovarian(110;57 1568 10207 38216 49865)												0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3941		0,1,1970	50	56	54		289,169,289,289	4.8	1	17		54	0,8324		0,0,4162	no	missense,missense,missense,missense	CRHR1	NM_001145146.1,NM_001145147.1,NM_001145148.1,NM_004382.4	21,21,21,21	0,1,6132	AA,AG,GG		0.0,0.0254,0.0082	benign,benign,benign,benign	97/445,57/376,97/402,97/416	43898768	1,12265	1971	4162	6133	SO:0001583	missense	0			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"GPCR / Class B : Corticotropin-releasing factor receptors"	2357	protein-coding gene	gene with protein product	"corticotropin-releasing factor receptor"	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.289G>A	17.37:g.43898768G>A	ENSP00000381333:p.Val97Met		B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.V97M	ENST00000398285.3	37	c.289	CCDS45712.1	17	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030586	0.35797	2.54E-4	0.0	ENSG00000120088	ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T	0.63096	-0.02;-0.02;-0.02;1.1	4.84	4.84	0.62591	GPCR, family 2, extracellular hormone receptor domain (3);	0.065057	0.64402	D	0.000016	T	0.58004	0.2092	N	0.11255	0.115	0.80722	D	1	B;D;B;B	0.65815	0.385;0.995;0.268;0.171	B;P;B;B	0.56788	0.04;0.806;0.027;0.027	T	0.64368	-0.6424	10	0.52906	T	0.07	.	15.8349	0.78791	0.0:0.0:1.0:0.0	.	97;97;57;97	P34998-4;P34998;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.	M	97;97;97;57	ENSP00000381333:V97M;ENSP00000326060:V97M;ENSP00000239167:V97M;ENSP00000344068:V57M	ENSP00000326060:V97M	V	+	1	0	CRHR1	41254549	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.587000	0.60991	2.677000	0.91161	0.655000	0.94253	GTG	CRHR1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_diuretic_rcpt	ENSG00000120088		0.632	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	-	0	250	0	G			43898768	1	tier1	-	no_errors	ENST00000398285	ensembl	human	known	74_37	missense	21.05	105	28	SNP	0.999	A	A	43898768	G	A	43898768	3	1	34	1	0	0	0	0	1	0	0	0	3878	1145	40	1	303	1	CRHR1	17	43898768	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4806218	43898768	37296442	324	8297											
LPO	4025	genome.wustl.edu	37	chr17	56345181	56345181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccctggggtcttcacgaaCgagcagaaggactctctaca	12	7	10	12	2	3	1	1	0	2	1	4	4	3	2	1	3	4	1	1	3	4	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:56345181C>A	ENST00000262290.4	+	13	2281	c.1965C>A	c.(1963-1965)aaC>aaA	p.N655K	LPO_ENST00000421678.2_Missense_Mutation_p.N572K|LPO_ENST00000543544.1_Missense_Mutation_p.N596K|LPO_ENST00000582328.1_Missense_Mutation_p.N572K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	655					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.N655N(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTTCACGAACGAGCAGAAGG	0.577																																																	1	Substitution - coding silent(1)	prostate(1)											87	84	85					17																	56345181		2203	4300	6503	SO:0001583	missense	0			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1965C>A	17.37:g.56345181C>A	ENSP00000262290:p.Asn655Lys		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.N655K	ENST00000262290.4	37	c.1965	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	C	0.072	-1.199983	0.01581	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.67345	-0.26;-0.26;-0.26	5.28	1.83	0.25207	.	1.391060	0.03843	N	0.271034	T	0.33381	0.0861	N	0.00869	-1.13	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35351	-0.9792	10	0.18710	T	0.47	-5.0632	4.2745	0.10802	0.1791:0.4643:0.3565:0.0	.	572;655	E7EMJ3;P22079	.;PERL_HUMAN	K	655;572;596;400	ENSP00000262290:N655K;ENSP00000400245:N572K;ENSP00000445344:N596K	ENSP00000262290:N655K	N	+	3	2	LPO	53700180	0.000000	0.05858	0.854000	0.33618	0.268000	0.26511	-0.151000	0.10175	1.242000	0.43836	-0.134000	0.14843	AAC	LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000167419		0.577	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1		0	76	0	C			56345181	1			no_errors	ENST00000262290	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.001	A	A	56345181	C	A	56345181	3	1	34	1	0	0	0	0	1	0	0	0	8957	535	19	2	2011	2	LPO	17	56345181	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	12446413	56345181	24850029	325	8298											
HSF5	124535	genome.wustl.edu	37	chr17	56536211	56536211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgtcttcactaggcttGctagcaggccccatttctga	6	13	9	13	0	3	1	1	1	2	0	3	1	3	1	3	2	2	3	3	2	2	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:56536211G>T	ENST00000323777.3	-	5	1747	c.1638C>A	c.(1636-1638)agC>agA	p.S546R	AC023992.1_ENST00000581197.1_RNA	NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	546					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACTAGGCTTGCTAGCAGGCC	0.473																																																	0													201	169	180					17																	56536211		2203	4300	6503	SO:0001583	missense	0			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1638C>A	17.37:g.56536211G>T	ENSP00000313243:p.Ser546Arg		Q08EH7|Q8N7V2	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.S546R	ENST00000323777.3	37	c.1638	CCDS32690.1	17	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592298	0.46214	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.74315	-0.83	5.77	4.8	0.61643	.	0.440276	0.25683	N	0.028988	T	0.61515	0.2353	N	0.19112	0.55	0.23577	N	0.997373	B	0.06786	0.001	B	0.04013	0.001	T	0.58142	-0.7688	10	0.72032	D	0.01	.	13.5684	0.61832	0.0:0.2966:0.7034:0.0	.	546	Q4G112	HSF5_HUMAN	R	446;546	ENSP00000313243:S546R	ENSP00000313243:S546R	S	-	3	2	HSF5	53891210	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.127000	0.50484	1.567000	0.49668	0.655000	0.94253	AGC	HSF5	-	NULL	ENSG00000176160		0.473	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	-	0	32	0	G	XM_064190		56536211	-1	tier1	-	no_errors	ENST00000323777	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	56536211	G	T	56536211	3	4	34	1	0	0	0	0	1	0	0	0	7426	1310	46	3	160	3	HSF5	17	56536211	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	191030	56536211	24658999	326	8299											
TLK2	11011	genome.wustl.edu	37	chr17	60637455	60637455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacgattaaatagatgtGtgacaatgagcaagaaactc	18	8	10	5	1	0	4	0	2	0	2	1	6	0	5	0	1	3	1	0	1	7	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:60637455G>T	ENST00000326270.9	+	10	1067	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	TLK2_ENST00000346027.5_Missense_Mutation_p.V267L|TLK2_ENST00000542523.1_Missense_Mutation_p.V235L|TLK2_ENST00000582809.1_Missense_Mutation_p.V118L|TLK2_ENST00000343388.7_Missense_Mutation_p.V235L	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	267					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AAATAGATGTGTGACAATGAG	0.358																																																	0													71	72	71					17																	60637455		2203	4300	6503	SO:0001583	missense	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.799G>T	17.37:g.60637455G>T	ENSP00000316512:p.Val267Leu		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V267L	ENST00000326270.9	37	c.799		17	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926129	0.52759	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.64618	-0.09;-0.11;-0.08;-0.11	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.44540	0.1298	N	0.12887	0.27	0.80722	D	1	B;B;B;B	0.32731	0.382;0.001;0.001;0.007	B;B;B;B	0.31614	0.133;0.006;0.006;0.002	T	0.41840	-0.9486	10	0.27785	T	0.31	.	16.8221	0.85835	0.0:0.0:1.0:0.0	.	267;235;267;267	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	L	267;235;267;235	ENSP00000275780:V267L;ENSP00000340800:V235L;ENSP00000316512:V267L;ENSP00000442311:V235L	ENSP00000316512:V267L	V	+	1	0	TLK2	57991187	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.606000	0.82863	2.516000	0.84829	0.655000	0.94253	GTG	TLK2	-	NULL	ENSG00000146872		0.358	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	-	0	41	0	G	NM_006852		60637455	1	tier1	-	no_errors	ENST00000326270	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	60637455	G	T	60637455	3	4	34	1	0	0	0	0	1	0	0	0	15991	1377	48	3	833	3	TLK2	17	60637455	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4101244	60637455	20557755	327	8300											
SCN4A	6329	genome.wustl.edu	37	chr17	62018515	62018515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtaggacaccttggagggGttggctgccatgaacttctc	7	11	13	10	1	1	1	0	1	1	0	3	3	1	3	2	5	2	3	2	5	2	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:62018515G>T	ENST00000435607.1	-	24	5203	c.5127C>A	c.(5125-5127)aaC>aaA	p.N1709K	SCN4A_ENST00000578147.1_Missense_Mutation_p.N1709K	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1709					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTGGAGGGGTTGGCTGCCA	0.607																																																	0													148	145	146					17																	62018515		2097	4224	6321	SO:0001583	missense	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5127C>A	17.37:g.62018515G>T	ENSP00000396320:p.Asn1709Lys		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.N1709K	ENST00000435607.1	37	c.5127	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607455	0.66558	.	.	ENSG00000007314	ENST00000435607	D	0.96396	-4.0	3.89	1.88	0.25563	.	0.000000	0.85682	D	0.000000	D	0.96861	0.8975	M	0.90198	3.095	0.53688	D	0.999976	D	0.55605	0.972	P	0.52309	0.695	D	0.95254	0.8362	10	0.87932	D	0	.	6.9016	0.24285	0.2838:0.0:0.7162:0.0	.	1709	P35499	SCN4A_HUMAN	K	1709	ENSP00000396320:N1709K	ENSP00000396320:N1709K	N	-	3	2	SCN4A	59372247	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	2.309000	0.43699	0.431000	0.26258	0.561000	0.74099	AAC	SCN4A	-	NULL	ENSG00000007314		0.607	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0	82	0	G	NM_000334		62018515	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	62018515	G	T	62018515	3	4	34	1	0	0	0	0	1	0	0	0	13965	1252	44	3	387	3	SCN4A	17	62018515	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1381060	62018515	19176695	328	8301											
KCNJ16	3773	genome.wustl.edu	37	chr17	68129146	68129146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttccccgagaaattctctgGggccataggtttaatgatgt	9	13	11	8	1	1	2	0	1	1	1	3	3	2	2	3	3	0	2	3	3	3	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:68129146G>T	ENST00000589377.1	+	2	1081	c.918G>T	c.(916-918)tgG>tgT	p.W306C	KCNJ16_ENST00000585558.1_Missense_Mutation_p.W341C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.W345C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.W306C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.W306C|KCNJ16_ENST00000283936.1_Missense_Mutation_p.W306C	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	306					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.W306*(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AAATTCTCTGGGGCCATAGGT	0.398																																																	1	Substitution - Nonsense(1)	large_intestine(1)											72	77	75					17																	68129146		2203	4300	6503	SO:0001583	missense	0			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.918G>T	17.37:g.68129146G>T	ENSP00000465967:p.Trp306Cys			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.W306C	ENST00000589377.1	37	c.918	CCDS11687.1	17	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016723	0.54468	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.97620	-4.46;-4.46;-4.46	5.78	5.78	0.91487	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99334	1.0910	9	.	.	.	.	19.5977	0.95547	0.0:0.0:1.0:0.0	.	306;306	A8K434;Q9NPI9	.;IRK16_HUMAN	C	306	ENSP00000283936:W306C;ENSP00000376439:W306C;ENSP00000376438:W306C	.	W	+	3	0	KCNJ16	65640741	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	9.771000	0.98977	2.722000	0.93159	0.650000	0.86243	TGG	KCNJ16	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000153822		0.398	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1		0	32	0	G	NM_018658		68129146	1			no_errors	ENST00000283936	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.993	T	T	68129146	G	T	68129146	3	4	34	1	0	0	0	0	1	0	0	0	8077	1241	43	3	920	3	KCNJ16	17	68129146	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6110631	68129146	13066064	329	8302											
MIF4GD	57409	genome.wustl.edu	37	chr17	73265466	73265466	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggaaggcatcaggcgaGagcaattactatagctcctc	12	7	12	10	2	1	1	1	0	0	1	3	3	2	2	1	3	4	3	1	3	5	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:73265466G>T	ENST00000325102.8	-	2	207				MIF4GD_ENST00000579119.1_Intron|RP11-649A18.12_ENST00000582668.1_RNA|MIF4GD_ENST00000578305.1_Intron|RP11-649A18.12_ENST00000585075.1_RNA|MIF4GD_ENST00000579297.1_Missense_Mutation_p.S56Y|MIF4GD_ENST00000245551.5_Missense_Mutation_p.S49Y|MIF4GD_ENST00000580571.1_Intron|MIF4GD_ENST00000577542.1_Missense_Mutation_p.S56Y	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing						regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CATCAGGCGAGAGCAATTACT	0.493																																																	0													152	138	143					17																	73265466		2203	4300	6503	SO:0001627	intron_variant	0			CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.82+728C>A	17.37:g.73265466G>T			B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold	p.S56Y	ENST00000325102.8	37	c.167	CCDS56044.1	17	.	.	.	.	.	.	.	.	.	.	G	6.702	0.498101	0.12762	.	.	ENSG00000125457	ENST00000245551	.	.	.	2.01	0.982	0.19762	.	.	.	.	.	T	0.17789	0.0427	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.007;0.008	B;B	0.04013	0.0;0.001	T	0.20174	-1.0283	8	0.62326	D	0.03	.	6.3497	0.21369	0.0:0.312:0.688:0.0	.	49;56	A9UHW6-2;B4DUM7	.;.	Y	49	.	ENSP00000245551:S49Y	S	-	2	0	MIF4GD	70777061	0.021000	0.18746	0.020000	0.16555	0.021000	0.10359	1.218000	0.32467	0.394000	0.25230	0.455000	0.32223	TCT	MIF4GD	-	superfamily_ARM-type_fold	ENSG00000125457		0.493	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIF4GD	HGNC	protein_coding	OTTHUMT00000446671.1		0	15	0	G	NM_020679		73265466	-1			no_errors	ENST00000577542	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.023	T	T	73265466	G	T	73265466	1	4	34	0	1	0	0	0	0	0	0	0	9622	942	33	3		3	MIF4GD	17	73265466	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5136320	73265466	7929744	330	8303											
FBF1	85302	genome.wustl.edu	37	chr17	73910884	73910884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccacctgcaatgcccgctCggcctcgcgctcggcccgct	3	7	11	20	6	0	0	0	0	0	0	4	0	1	0	5	2	2	4	5	2	1	0	rs577460839|rs573986983	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:73910884C>T	ENST00000586717.1	-	24	2989	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K	RP11-552F3.12_ENST00000587556.1_5'Flank|FBF1_ENST00000319129.5_Missense_Mutation_p.E905K|FBF1_ENST00000389570.4_Missense_Mutation_p.E906K			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	906					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						AATGCCCGCTCGGCCTCGCGC	0.701													C|||	1	0.000199681	8e-04	0	5008	,	,		15364	0		0	False		,,,				2504	0																0													13	19	17					17																	73910884		2089	4186	6275	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2716G>A	17.37:g.73910884C>T	ENSP00000465132:p.Glu906Lys		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.E906K	ENST00000586717.1	37	c.2716		17	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320264	0.60634	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.19394	2.15;2.15	5.58	5.58	0.84498	.	.	.	.	.	T	0.38746	0.1052	M	0.69823	2.125	0.39198	D	0.96308	D;D	0.65815	0.995;0.995	P;P	0.56751	0.805;0.805	T	0.24835	-1.0149	9	0.51188	T	0.08	-27.8549	12.5192	0.56050	0.0:0.9228:0.0:0.0772	.	920;905	Q8TES7-6;A6NLR5	.;.	K	906;905;919	ENSP00000374221:E906K;ENSP00000324292:E905K	ENSP00000324292:E905K	E	-	1	0	FBF1	71422479	0.999000	0.42202	0.947000	0.38551	0.048000	0.14542	4.032000	0.57274	2.619000	0.88677	0.650000	0.86243	GAG	FBF1	-	NULL	ENSG00000188878		0.701	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	-	0	73	0	C	NM_001080542		73910884	-1	tier1	-	no_errors	ENST00000389570	ensembl	human	known	74_37	missense	63.89	13	23	SNP	0.965	T	T	73910884	C	T	73910884	3	4	34	1	0	0	0	0	1	0	0	0	5717	893	31	1	712	1	FBF1	17	73910884	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	645418	73910884	7284326	331	8304											
GALR2	8811	genome.wustl.edu	37	chr17	74071332	74071332	+	Splice_Site	DEL	G	G	-																															ggccgccgtctccctggacaGgtgagccagcgccttggcct																										TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:74071332delG	ENST00000329003.3	+	1	458	c.368delG	c.(367-369)agg>ag	p.R123fs	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	123					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCCCTGGACAGGTGAGCCAGC	0.677																																																	0													28	26	26					17																	74071332		2203	4300	6503	SO:0001630	splice_region_variant	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.368+1G>-	17.37:g.74071332delG			A5JUU4|Q32MN8	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt	p.R123fs	ENST00000329003.3	37	c.368	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182687		0.677	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1		0	30	0	G		Frame_Shift_Del	74071332	1	tier1		no_errors	ENST00000329003	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-	-	74071332	G	-	74071332	8	5	34	1	0	1	0	1	0	0	1	0	6253	1014	35	0	370	0	GALR2	17	74071332	Splice_Site	DEL	G	TCGA-JY-A6F8-01A-11D-A33E-09	160448	74071332	7123878	332	8305											
QRICH2	84074	genome.wustl.edu	37	chr17	74287508	74287508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgactgtcaaagagagaGaaagcatggccatgctgagc	14	7	12	8	0	2	4	2	2	0	2	2	6	2	4	1	1	3	2	1	1	2	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:74287508G>T	ENST00000262765.5	-	4	2981	c.2802C>A	c.(2800-2802)ttC>ttA	p.F934L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	934										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAAGAGAGAGAAAGCATGGC	0.498																																																	0													96	67	77					17																	74287508		2203	4300	6503	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2802C>A	17.37:g.74287508G>T	ENSP00000262765:p.Phe934Leu		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.F934L	ENST00000262765.5	37	c.2802	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	7.116	0.576944	0.13686	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08193	3.12	3.91	-3.28	0.05033	.	.	.	.	.	T	0.03136	0.0092	N	0.19112	0.55	0.09310	N	1	B;B	0.30973	0.302;0.07	B;B	0.24974	0.057;0.033	T	0.43766	-0.9371	9	0.10902	T	0.67	.	0.717	0.00934	0.2014:0.157:0.3426:0.299	.	934;934	B5MD94;Q9H0J4	.;QRIC2_HUMAN	L	934	ENSP00000262765:F934L	ENSP00000262765:F934L	F	-	3	2	QRICH2	71799103	0.081000	0.21417	0.000000	0.03702	0.078000	0.17371	0.923000	0.28757	-0.843000	0.04189	0.313000	0.20887	TTC	QRICH2	-	NULL	ENSG00000129646		0.498	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1		0	34	0	G	NM_032134		74287508	-1			no_errors	ENST00000262765	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	T	T	74287508	G	T	74287508	3	4	34	1	0	0	0	0	1	0	0	0	12925	933	33	3	2253	3	QRICH2	17	74287508	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	216176	74287508	6907702	333	8306											
JMJD6	23210	genome.wustl.edu	37	chr17	74718004	74718004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagattgaggacaacatGccaccagcctcctgaaatcc	12	7	9	13	1	0	3	0	2	0	1	3	5	2	4	5	1	3	0	5	1	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:74718004G>T	ENST00000397625.4	-	4	931	c.817C>A	c.(817-819)Cat>Aat	p.H273N	JMJD6_ENST00000445478.2_Missense_Mutation_p.H273N|JMJD6_ENST00000585429.1_Missense_Mutation_p.H273N	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	273	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						AGGACAACATGCCACCAGCCT	0.448																																																	0													117	108	111					17																	74718004		2004	4172	6176	SO:0001583	missense	0			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.817C>A	17.37:g.74718004G>T	ENSP00000380750:p.His273Asn		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.H273N	ENST00000397625.4	37	c.817	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498469	0.85069	.	.	ENSG00000070495	ENST00000445478;ENST00000344991;ENST00000397625	D;D	0.97870	-4.58;-4.58	5.49	5.49	0.81192	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.99381	0.9782	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98310	1.0523	10	0.87932	D	0	0.4342	19.4304	0.94762	0.0:0.0:1.0:0.0	.	273;273;273	B2WTI3;Q6NYC1;Q6NYC1-3	.;JMJD6_HUMAN;.	N	273	ENSP00000394085:H273N;ENSP00000380750:H273N	ENSP00000302916:H273N	H	-	1	0	JMJD6	72229599	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.859000	0.99545	2.575000	0.86900	0.555000	0.69702	CAT	JMJD6	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000070495		0.448	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1		0	35	0	G	NM_015167		74718004	-1			no_errors	ENST00000445478	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	74718004	G	T	74718004	3	4	34	1	0	0	0	0	1	0	0	0	7980	1319	46	3	447	3	JMJD6	17	74718004	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	430496	74718004	6477206	334	8307											
C1QTNF1	114897	genome.wustl.edu	37	chr17	77043771	77043771	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccactacgccgccttttcGgtgggccggaagaagcccat	8	7	12	14	4	0	1	0	0	0	1	1	2	0	2	5	3	3	0	5	3	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:77043771G>T	ENST00000339142.2	+	5	1002	c.447G>T	c.(445-447)tcG>tcT	p.S149S	C1QTNF1_ENST00000580474.1_Silent_p.S149S|C1QTNF1_ENST00000580454.1_Silent_p.S149S|C1QTNF1_ENST00000311661.4_Silent_p.S67S|C1QTNF1_ENST00000579760.1_Silent_p.S149S|C1QTNF1_ENST00000578229.1_Silent_p.S67S|C1QTNF1_ENST00000392445.2_Silent_p.S149S|C1QTNF1_ENST00000581774.1_Silent_p.S149S|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Silent_p.S159S|C1QTNF1_ENST00000583904.1_Silent_p.S149S	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	149	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCGCCTTTTCGGTGGGCCGGA	0.622																																																	0													78	74	75					17																	77043771		2203	4300	6503	SO:0001819	synonymous_variant	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.447G>T	17.37:g.77043771G>T			Q6ZMH6|Q96NF2|Q9GZR4	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.S159	ENST00000339142.2	37	c.477	CCDS11761.1	17																																																																																			C1QTNF1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000173918		0.622	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2		0	86	0	G	NM_030968		77043771	1			no_errors	ENST00000354124	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.218	T	T	77043771	G	T	77043771	2	4	34	1	0	0	0	0	0	0	0	1	1969	1103	39	2		2	C1QTNF1	17	77043771	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2325767	77043771	4151439	335	8308											
CCDC40	55036	genome.wustl.edu	37	chr17	78013765	78013765	+	Frame_Shift_Del	DEL	C	C	-																															agtggaaggggaagaggaggCtgtgtcctatggagatgctg																								rs397515393		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr17:78013765delC	ENST00000397545.4	+	3	275	c.248delC	c.(247-249)gctfs	p.A83fs	CCDC40_ENST00000374877.3_Frame_Shift_Del_p.A83fs|CCDC40_ENST00000269318.5_Frame_Shift_Del_p.A83fs|CCDC40_ENST00000374876.4_Frame_Shift_Del_p.A83fs	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	83					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			gaagaggaggCTGTGTCCTAT	0.512																																																	0										1,3911		0,1,1955	65	69	68			-6.4	0	17		68	7,7991		0,7,3992	no	frameshift	CCDC40	NM_017950.3		0,8,5947	A1A1,A1R,RR		0.0875,0.0256,0.0672			78013765	8,11902	2026	4177	6203	SO:0001589	frameshift_variant	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.248delC	17.37:g.78013765delC	ENSP00000380679:p.Ala83fs		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Frame_Shift_Del	DEL	pfam_E3_ubiquit_lig_BRE1	p.A83fs	ENST00000397545.4	37	c.248	CCDS42395.1	17																																																																																			CCDC40	-	NULL	ENSG00000141519		0.512	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2		0	26	0	C	XM_371082		78013765	1	tier1		no_errors	ENST00000397545	ensembl	human	known	74_37	frame_shift_del	67.27	18	37	DEL	0.000	-	-	78013765	C	-	78013765	7	5	34	1	0	1	0	1	0	0	0	0	2819	797	28	0	258	0	CCDC40	17	78013765	Frame_Shift_Del	DEL	C	TCGA-JY-A6F8-01A-11D-A33E-09	969994	78013765	3181445	336	8309											
EPB41L3	23136	genome.wustl.edu	37	chr18	5445189	5445189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagtagtctttctctaGcaagttcaagtgttcacaca	12	12	6	11	0	4	0	2	0	2	0	5	0	4	0	1	0	1	4	1	0	5	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:5445189G>T	ENST00000341928.2	-	4	776	c.436C>A	c.(436-438)Cta>Ata	p.L146I	EPB41L3_ENST00000400111.3_Missense_Mutation_p.L146I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.L146I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.L146I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.L146I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	146	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCTTTCTCTAGCAAGTTCAAG	0.393																																																	0													197	156	170					18																	5445189		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.436C>A	18.37:g.5445189G>T	ENSP00000343158:p.Leu146Ile		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.L146I	ENST00000341928.2	37	c.436	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496771	0.85069	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111;ENST00000542652	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.82	4.84	0.62591	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	D	0.000001	T	0.78509	0.4294	L	0.49699	1.58	0.80722	D	1	P;B;D;D;B	0.58620	0.951;0.306;0.983;0.979;0.19	D;B;D;D;P	0.83275	0.981;0.401;0.996;0.993;0.694	T	0.76990	-0.2754	10	0.41790	T	0.15	.	4.65	0.12591	0.2794:0.0:0.7206:0.0	.	146;146;37;146;146	F5GX05;Q9Y2J2-3;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	I	146;37;146;37;146;146;227	ENSP00000343158:L146I;ENSP00000441174:L146I;ENSP00000341138:L146I;ENSP00000382981:L146I	ENSP00000343158:L146I	L	-	1	2	EPB41L3	5435189	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.751000	0.62169	2.753000	0.94483	0.467000	0.42956	CTA	EPB41L3	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	ENSG00000082397		0.393	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1		0	22	0	G	NM_012307		5445189	-1			no_errors	ENST00000341928	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	5445189	G	T	5445189	3	4	34	1	0	0	0	0	1	0	0	0	5170	962	34	3	2903	3	EPB41L3	18	5445189	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		5445189	72632059	337	8310											
PTPRM	5797	genome.wustl.edu	37	chr18	7949302	7949302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagtaccgctgcatgattCgcactgaaggaggtgttgga	11	9	14	7	2	0	2	0	2	0	0	1	5	0	4	1	3	2	5	1	3	3	3	rs140369696		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:7949302C>T	ENST00000332175.8	+	6	1824	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	PTPRM_ENST00000400053.4_Missense_Mutation_p.R201C|PTPRM_ENST00000444013.1_Missense_Mutation_p.R50C|PTPRM_ENST00000400060.4_Missense_Mutation_p.R263C|PTPRM_ENST00000580170.1_Missense_Mutation_p.R263C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	263	Ig-like C2-type.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGCATGATTCGCACTGAAGG	0.388																																																	0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	135	126	129		787,787	2.8	1	18	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PTPRM	NM_001105244.1,NM_002845.3	180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	263/1466,263/1453	7949302	1,13005	2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.787C>T	18.37:g.7949302C>T	ENSP00000331418:p.Arg263Cys		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R263C	ENST00000332175.8	37	c.787	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770766	0.31320	0.0	1.16E-4	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.64	2.84	0.33178	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354621	0.33854	N	0.004498	T	0.76198	0.3954	L	0.29908	0.895	0.46131	D	0.998888	D;D;D	0.89917	1.0;0.994;0.994	P;P;P	0.62184	0.899;0.465;0.465	T	0.71358	-0.4617	10	0.35671	T	0.21	.	8.6024	0.33754	0.1254:0.7425:0.0:0.1322	.	50;263;263	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	C	263;263;201;50	ENSP00000331418:R263C;ENSP00000382933:R263C;ENSP00000382927:R201C;ENSP00000387608:R50C	ENSP00000331418:R263C	R	+	1	0	PTPRM	7939302	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	3.799000	0.55529	0.388000	0.25054	0.650000	0.86243	CGC	PTPRM	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000173482		0.388	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1		0	25	0	C			7949302	1			no_errors	ENST00000400060	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.996	T	T	7949302	C	T	7949302	3	4	34	1	0	0	0	0	1	0	0	0	12851	884	31	1	809	1	PTPRM	18	7949302	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2504113	7949302	70127946	338	8311											
PTPRM	5797	genome.wustl.edu	37	chr18	8143707	8143707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaccatacagttaaaattGctggagtcatcgcgggcatc	12	9	10	10	2	1	1	1	0	0	1	3	2	1	2	1	2	2	3	1	2	3	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:8143707G>T	ENST00000332175.8	+	14	3267	c.2230G>T	c.(2230-2232)Gct>Tct	p.A744S	PTPRM_ENST00000400053.4_Missense_Mutation_p.A682S|PTPRM_ENST00000444013.1_Missense_Mutation_p.A531S|PTPRM_ENST00000400060.4_Missense_Mutation_p.A744S|PTPRM_ENST00000580170.1_Missense_Mutation_p.A744S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	744					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTTAAAATTGCTGGAGTCAT	0.453																																																	0													165	160	161					18																	8143707		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2230G>T	18.37:g.8143707G>T	ENSP00000331418:p.Ala744Ser		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A744S	ENST00000332175.8	37	c.2230	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579812	0.86645	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.50813	1.06;1.05;0.87;0.73	5.92	5.92	0.95590	.	0.109437	0.64402	D	0.000009	T	0.62551	0.2437	L	0.52759	1.655	0.80722	D	1	P;D;D	0.63880	0.886;0.993;0.993	P;D;D	0.72625	0.643;0.978;0.978	T	0.50800	-0.8785	10	0.10636	T	0.68	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	531;744;744	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	S	744;744;682;531	ENSP00000331418:A744S;ENSP00000382933:A744S;ENSP00000382927:A682S;ENSP00000387608:A531S	ENSP00000331418:A744S	A	+	1	0	PTPRM	8133707	1.000000	0.71417	0.911000	0.35937	0.990000	0.78478	9.464000	0.97655	2.809000	0.96659	0.655000	0.94253	GCT	PTPRM	-	NULL	ENSG00000173482		0.453	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1		0	29	0	G			8143707	1			no_errors	ENST00000400060	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	8143707	G	T	8143707	3	4	34	1	0	0	0	0	1	0	0	0	12851	1319	46	3	2284	3	PTPRM	18	8143707	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	194405	8143707	69933541	339	8312											
RALBP1	10928	genome.wustl.edu	37	chr18	9522403	9522403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaatgtaactatcttCtgatttcttggctcattgtg	8	17	8	8	0	4	2	1	1	3	1	4	2	4	2	1	1	2	2	1	1	3	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:9522403C>A	ENST00000019317.4	+	4	1172	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	RP11-61L19.3_ENST00000609094.1_RNA|RALBP1_ENST00000383432.3_Missense_Mutation_p.L317M			Q15311	RBP1_HUMAN	ralA binding protein 1	317	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	TAACTATCTTCTGATTTCTTG	0.428																																																	0													82	78	79					18																	9522403		2203	4298	6501	SO:0001583	missense	0			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.949C>A	18.37:g.9522403C>A	ENSP00000019317:p.Leu317Met		D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L317M	ENST00000019317.4	37	c.949	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272160	0.80469	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.22134	1.97;1.97	5.61	5.61	0.85477	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.061993	0.64402	D	0.000003	T	0.47021	0.1423	M	0.69185	2.1	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.41070	-0.9529	10	0.87932	D	0	0.1573	19.6434	0.95767	0.0:1.0:0.0:0.0	.	317	Q15311	RBP1_HUMAN	M	317	ENSP00000019317:L317M;ENSP00000372924:L317M	ENSP00000019317:L317M	L	+	1	2	RALBP1	9512403	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.930000	0.63462	2.647000	0.89833	0.563000	0.77884	CTG	RALBP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000017797		0.428	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1		0	33	0	C	NM_006788		9522403	1			no_errors	ENST00000019317	ensembl	human	known	74_37	missense	6.45	87	6	SNP	1.000	A	A	9522403	C	A	9522403	3	1	34	1	0	0	0	0	1	0	0	0	13057	912	32	3	959	3	RALBP1	18	9522403	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1378696	9522403	68554845	340	8313											
CTAGE1	64693	genome.wustl.edu	37	chr18	19996488	19996488	+	5'Flank	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgaccaattatcatgTgcttttttctcatggagaat	9	15	8	9	1	2	1	2	0	1	1	3	3	2	1	2	1	2	2	2	1	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:19996488T>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.A429A			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATTATCATGTGCTTTTTTCT	0.343																																																	0													58	65	62					18																	19996488		2115	4274	6389	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996488T>C	Exception_encountered		B0YIZ3	Silent	SNP	NULL	p.A429	ENST00000525417.1	37	c.1287		18																																																																																			CTAGE1	-	NULL	ENSG00000212710		0.343	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	-	0	42	0	T	NM_022663, NM_172241		19996488	-1	tier1	-	no_errors	ENST00000391403	ensembl	human	known	74_37	silent	20.95	83	22	SNP	0.785	C	C	19996488	T	C	19996488	1	2	34	0	1	0	0	0	0	0	0	0	4001	1683	59	4		4	CTAGE1	18	19996488	5'Flank	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	10474085	19996488	58080760	341	8314											
DSG2	1829	genome.wustl.edu	37	chr18	29126318	29126318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagttgtggtcactgaaaGagtaatacagcctcatgggg	12	10	12	7	0	2	2	2	1	0	1	2	2	2	2	1	3	3	2	1	3	4	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:29126318G>T	ENST00000261590.8	+	15	3178	c.2969G>T	c.(2968-2970)aGa>aTa	p.R990I	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	990					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTCACTGAAAGAGTAATACAG	0.483																																																	0													89	92	91					18																	29126318		1975	4154	6129	SO:0001583	missense	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2969G>T	18.37:g.29126318G>T	ENSP00000261590:p.Arg990Ile		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.R990I	ENST00000261590.8	37	c.2969	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665447	0.47677	.	.	ENSG00000046604	ENST00000261590	D	0.82893	-1.66	5.16	3.35	0.38373	.	0.307941	0.27677	N	0.018304	D	0.86289	0.5897	M	0.71036	2.16	0.80722	D	1	D	0.59767	0.986	P	0.51415	0.669	D	0.87853	0.2659	10	0.87932	D	0	.	15.1058	0.72322	0.0:0.2687:0.7313:0.0	.	990	Q14126	DSG2_HUMAN	I	990	ENSP00000261590:R990I	ENSP00000261590:R990I	R	+	2	0	DSG2	27380316	1.000000	0.71417	0.817000	0.32601	0.226000	0.24999	1.602000	0.36783	0.847000	0.35167	0.655000	0.94253	AGA	DSG2	-	NULL	ENSG00000046604		0.483	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0	20	0	G	NM_001943		29126318	1			no_errors	ENST00000261590	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.995	T	T	29126318	G	T	29126318	3	4	34	1	0	0	0	0	1	0	0	0	4791	942	33	3	3027	3	DSG2	18	29126318	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	9129830	29126318	48950930	342	8315											
RNF138	51444	genome.wustl.edu	37	chr18	29704766	29704766	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaccagacagcgtttactGgatcactgtaacagtaatca	13	12	7	9	1	2	1	2	0	0	1	2	2	2	2	1	1	4	3	1	1	4	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:29704766G>T	ENST00000261593.3	+	6	977	c.519G>T	c.(517-519)ctG>ctT	p.L173L	RNF138_ENST00000257190.5_Silent_p.L79L|RP11-53I6.4_ENST00000583138.1_RNA	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	173					protein ubiquitination (GO:0016567)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	ligase activity (GO:0016874)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AGCGTTTACTGGATCACTGTA	0.343																																																	0													143	134	137					18																	29704766		2202	4300	6502	SO:0001819	synonymous_variant	0			AF162680	CCDS11903.1, CCDS11904.1	18q12.1	2013-01-28	2012-02-23		ENSG00000134758	ENSG00000134758		"RING-type (C3HC4) zinc fingers"	17765	protein-coding gene	gene with protein product	"nemo-like kinase associated ring finger protein"		"ring finger protein 138"			22155992, 16714285	Standard	NM_016271		Approved	STRIN, NARF	uc021uip.2	Q8WVD3	OTTHUMG00000132265	ENST00000261593.3:c.519G>T	18.37:g.29704766G>T			B2RE17|Q9H8K2|Q9UF87|Q9UKI6	Silent	SNP	pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L173	ENST00000261593.3	37	c.519	CCDS11903.1	18																																																																																			RNF138	-	smart_Znf_RING	ENSG00000134758		0.343	RNF138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF138	HGNC	protein_coding	OTTHUMT00000255352.2		0	9	0	G	NM_016271		29704766	1			no_errors	ENST00000261593	ensembl	human	known	74_37	silent	5.48	69	4	SNP	1.000	T	T	29704766	G	T	29704766	2	4	34	1	0	0	0	0	0	0	0	1	13486	1335	47	3		3	RNF138	18	29704766	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	578448	29704766	48372482	343	8316											
WDR7	23335	genome.wustl.edu	37	chr18	54346668	54346668	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgagtgcatctgaaagtGggtaagtattttctcatttg	9	17	11	4	0	2	2	1	2	2	0	3	2	2	2	0	1	1	3	0	1	3	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:54346668G>T	ENST00000254442.3	+	3	476	c.265G>T	c.(265-267)Gga>Tga	p.G89*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Splice_Site_p.G89*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	89					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ATCTGAAAGTGGGTAAGTATT	0.368																																																	0													136	118	124					18																	54346668		2203	4300	6503	SO:0001630	splice_region_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.266+1G>T	18.37:g.54346668G>T			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G89*	ENST00000254442.3	37	c.265	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.436297	0.98810	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.7681	0.96350	0.0:0.0:1.0:0.0	.	.	.	.	X	89	.	ENSP00000254442:G89X	G	+	1	0	WDR7	52497666	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.598000	0.98277	2.768000	0.95171	0.655000	0.94253	GGA	WDR7	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000091157		0.368	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1		0	24	0	G		Nonsense_Mutation	54346668	1			no_errors	ENST00000254442	ensembl	human	known	74_37	nonsense	6.98	39	3	SNP	1.000	T	T	54346668	G	T	54346668	5	4	34	1	0	0	0	0	0	0	1	0	17369	1362	47	3	271	3	WDR7	18	54346668	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	24641902	54346668	23730580	344	8317											
SERPINB5	5268	genome.wustl.edu	37	chr18	61166491	61166491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctactacccaaggatGtggaggatgagtccacaggc	11	8	11	11	0	1	1	1	1	0	0	3	4	3	4	3	4	2	0	3	4	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:61166491G>T	ENST00000382771.4	+	6	998	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	236					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ACCCAAGGATGTGGAGGATGA	0.473																																																	0													87	72	77					18																	61166491		2203	4300	6503	SO:0001583	missense	0			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.706G>T	18.37:g.61166491G>T	ENSP00000372221:p.Val236Leu		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.V236L	ENST00000382771.4	37	c.706	CCDS32839.1	18	.	.	.	.	.	.	.	.	.	.	G	8.351	0.830926	0.16820	.	.	ENSG00000206075	ENST00000382771	T	0.17054	2.3	5.14	0.239	0.15484	Serpin domain (3);	0.485744	0.19653	N	0.109158	T	0.10723	0.0262	N	0.22421	0.69	0.45837	D	0.998708	B	0.02656	0.0	B	0.01281	0.0	T	0.11867	-1.0570	10	0.54805	T	0.06	.	9.6731	0.40023	0.5662:0.0:0.4338:0.0	.	236	P36952	SPB5_HUMAN	L	236	ENSP00000372221:V236L	ENSP00000372221:V236L	V	+	1	0	SERPINB5	59317471	0.922000	0.31269	0.306000	0.25113	0.316000	0.28119	1.608000	0.36847	-0.175000	0.10725	-0.350000	0.07774	GTG	SERPINB5	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206075		0.473	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB5	HGNC	protein_coding	OTTHUMT00000280629.1	-	0	33	0	G	NM_002639		61166491	1	tier1	-	no_errors	ENST00000382771	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.141	T	T	61166491	G	T	61166491	3	4	34	1	0	0	0	0	1	0	0	0	14149	1377	48	3	724	3	SERPINB5	18	61166491	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6819823	61166491	16910757	345	8318											
NFATC1	4772	genome.wustl.edu	37	chr18	77246359	77246359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactacagccagcagctcgCgatgccacccgaccccagct	10	5	8	18	3	0	0	0	0	0	0	1	2	0	0	5	0	7	3	5	0	2	2	rs375009218		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr18:77246359C>G	ENST00000427363.2	+	9	2204	c.2204C>G	c.(2203-2205)gCg>gGg	p.A735G	NFATC1_ENST00000545796.1_Missense_Mutation_p.A263G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A722G|NFATC1_ENST00000253506.5_Missense_Mutation_p.A735G|NFATC1_ENST00000318065.5_Missense_Mutation_p.A722G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A263G|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000542384.1_Intron			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	735	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CAGCAGCTCGCGATGCCACCC	0.632																																					GBM(151;1210 2593 28719 45011)												0													118	135	130					18																	77246359		2203	4300	6503	SO:0001583	missense	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2204C>G	18.37:g.77246359C>G	ENSP00000389377:p.Ala735Gly		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.A735G	ENST00000427363.2	37	c.2204		18	.	.	.	.	.	.	.	.	.	.	c	7.578	0.668090	0.14710	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.66	2.63	0.31362	.	1.096470	0.06845	N	0.796405	T	0.18800	0.0451	L	0.39898	1.24	0.09310	N	1	B;B	0.32526	0.251;0.374	B;B	0.28465	0.09;0.09	T	0.28996	-1.0026	10	0.22109	T	0.4	-10.114	5.1596	0.15054	0.0:0.3223:0.0:0.6777	.	735;722	O95644;B5B2M5	NFAC1_HUMAN;.	G	735;735;263;722;263;722;699	ENSP00000253506:A735G;ENSP00000380892:A263G;ENSP00000327850:A722G;ENSP00000439992:A263G	ENSP00000253506:A735G	A	+	2	0	NFATC1	75347347	0.138000	0.22547	0.001000	0.08648	0.007000	0.05969	1.420000	0.34804	0.399000	0.25367	0.639000	0.83563	GCG	NFATC1	-	NULL	ENSG00000131196		0.632	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	-	0	50	0	C	NM_172390		77246359	1	tier1	-	no_errors	ENST00000427363	ensembl	human	known	74_37	missense	82.05	7	32	SNP	0.032	G	G	77246359	C	G	77246359	3	3	34	1	0	0	0	0	1	0	0	0	10400	768	27	5	2389	5	NFATC1	18	77246359	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	16079868	77246359	830889	346	8319											
SEMA6B	10501	genome.wustl.edu	37	chr19	4550867	4550867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggactcgggggacttCtgctctcggaagcggccttc	6	9	14	12	3	2	1	0	0	2	1	5	4	2	4	1	5	2	1	1	5	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:4550867C>A	ENST00000586582.1	-	11	1375	c.1065G>T	c.(1063-1065)caG>caT	p.Q355H	SEMA6B_ENST00000586965.1_Missense_Mutation_p.Q355H|SEMA6B_ENST00000301293.3_Missense_Mutation_p.Q355H	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	355	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGGACTTCTGCTCTCGGA	0.622																																																	0													55	57	56					19																	4550867		2203	4300	6503	SO:0001583	missense	0			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1065G>T	19.37:g.4550867C>A	ENSP00000467290:p.Gln355His		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.Q355H	ENST00000586582.1	37	c.1065	CCDS12131.1	19	.	.	.	.	.	.	.	.	.	.	.	19.00	3.742388	0.69418	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.12879	2.64	3.61	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.134175	0.51477	U	0.000086	T	0.43875	0.1267	M	0.93808	3.46	0.37704	D	0.924335	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	T	0.58222	-0.7674	10	0.87932	D	0	.	10.0163	0.42016	0.0:0.8956:0.0:0.1044	.	355;355	B4DT36;Q9H3T3	.;SEM6B_HUMAN	H	355	ENSP00000301293:Q355H	ENSP00000301292:Q355H	Q	-	3	2	SEMA6B	4501867	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.050000	0.30404	0.875000	0.35847	0.478000	0.44815	CAG	SEMA6B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000167680		0.622	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2	-	0	141	0	C	NM_032108		4550867	-1	tier1	-	no_errors	ENST00000301293	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A	A	4550867	C	A	4550867	3	1	34	1	0	0	0	0	1	0	0	0	14085	912	32	3	1629	3	SEMA6B	19	4550867	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09		4550867	54578116	347	8320											
TMEM146	257062	genome.wustl.edu	37	chr19	5757895	5757895	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggttccaggccacCttctacgagaacggttacac	8	9	10	14	2	1	1	0	0	1	1	3	2	3	1	4	4	3	2	4	4	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:5757895C>A	ENST00000381624.3	+	14	1381	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	CATSPERD_ENST00000381614.2_Silent_p.T98T|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	440					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCCAGGCCACCTTCTACGAGA	0.617																																																	0													63	66	65					19																	5757895		1993	4167	6160	SO:0001819	synonymous_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1320C>A	19.37:g.5757895C>A			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.T440	ENST00000381624.3	37	c.1320	CCDS12149.2	19																																																																																			CATSPERD	-	NULL	ENSG00000174898		0.617	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0	139	0	C	NM_152784		5757895	1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.000	A	A	5757895	C	A	5757895	2	1	34	1	0	0	0	0	0	0	0	1	16107	668	24	3		3	TMEM146	19	5757895	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1207028	5757895	53371088	348	8321											
TRIP10	9322	genome.wustl.edu	37	chr19	6751165	6751165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctggacccgggtcaggcgGaaagagggaggcgagggcta	9	3	21	8	3	1	1	1	0	0	1	1	5	1	4	1	8	0	2	1	8	2	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:6751165G>T	ENST00000313244.9	+	15	1784	c.1749G>T	c.(1747-1749)cgG>cgT	p.R583R	TRIP10_ENST00000600428.1_Silent_p.R419R|TRIP10_ENST00000596758.1_Missense_Mutation_p.G537V|TRIP10_ENST00000313285.8_Silent_p.R527R|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	583	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGGTCAGGCGGAAAGAGGGAG	0.617																																																	0													69	78	75					19																	6751165		2203	4300	6503	SO:0001819	synonymous_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1749G>T	19.37:g.6751165G>T			B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.G537V	ENST00000313244.9	37	c.1610		19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314709	0.23908	.	.	ENSG00000125733	ENST00000420690	.	.	.	4.84	2.61	0.31194	.	.	.	.	.	T	0.56396	0.1982	.	.	.	0.80722	D	1	B	0.22414	0.069	B	0.26969	0.075	T	0.58137	-0.7689	7	0.87932	D	0	-23.2364	13.1132	0.59285	0.0:0.2959:0.7041:0.0	.	537	G5E9U1	.	V	537	.	ENSP00000415493:G537V	G	+	2	0	TRIP10	6702165	1.000000	0.71417	0.958000	0.39756	0.921000	0.55340	2.572000	0.45999	0.706000	0.31912	0.305000	0.20034	GGA	TRIP10	-	NULL	ENSG00000125733		0.617	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0	120	0	G			6751165	1			no_errors	ENST00000596758	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	6751165	G	T	6751165	2	4	34	1	0	0	0	0	0	0	0	1	16602	1161	41	3		3	TRIP10	19	6751165	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	993270	6751165	52377818	349	8322											
BEST2	54831	genome.wustl.edu	37	chr19	12866567	12866567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagttcttcttctacGccggctggctcaaggtaggt	5	14	11	11	2	5	0	1	0	4	0	5	0	5	0	1	4	2	5	1	4	3	6	rs150329270		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:12866567G>T	ENST00000549706.1	+	7	1177	c.853G>T	c.(853-855)Gcc>Tcc	p.A285S	BEST2_ENST00000042931.1_Missense_Mutation_p.A285S|BEST2_ENST00000553030.1_Missense_Mutation_p.A285S			Q8NFU1	BEST2_HUMAN	bestrophin 2	285					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTTCTTCTACGCCGGCTGGCT	0.582																																																	0													81	85	84					19																	12866567		2059	4216	6275	SO:0001583	missense	0			AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17107	protein-coding gene	gene with protein product		607335	"vitelliform macular dystrophy 2-like 1"	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.853G>T	19.37:g.12866567G>T	ENSP00000448310:p.Ala285Ser		Q53YQ8|Q9NXP0	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.A285S	ENST00000549706.1	37	c.853	CCDS42506.1	19	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057827	0.36277	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98531	-4.98;-4.98;-4.98	4.49	3.42	0.39159	.	0.214788	0.37393	N	0.002115	D	0.96309	0.8796	L	0.49640	1.575	0.41738	D	0.989593	B	0.19817	0.039	B	0.26969	0.075	D	0.94369	0.7594	10	0.38643	T	0.18	-6.0455	12.5727	0.56347	0.0:0.0:0.832:0.168	.	285	Q8NFU1	BEST2_HUMAN	S	285	ENSP00000448310:A285S;ENSP00000447203:A285S;ENSP00000042931:A285S	ENSP00000042931:A285S	A	+	1	0	BEST2	12727567	0.998000	0.40836	0.174000	0.22961	0.477000	0.33069	7.577000	0.82486	1.058000	0.40530	0.650000	0.86243	GCC	BEST2	-	pfam_Bestrophin/UPF0187	ENSG00000039987		0.582	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BEST2	HGNC	protein_coding	OTTHUMT00000403343.1		0	54	0	G	NM_017682		12866567	1			no_errors	ENST00000042931	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.993	T	T	12866567	G	T	12866567	3	4	34	1	0	0	0	0	1	0	0	0	1406	1087	38	2	875	2	BEST2	19	12866567	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	6115402	12866567	46262416	350	8323											
OR7C1	26664	genome.wustl.edu	37	chr19	14910316	14910316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagaaaaatattccagtGaaggaaatcacacccaggac	19	6	8	8	0	1	2	1	1	0	1	2	5	2	4	2	2	0	0	2	2	6	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:14910316G>T	ENST00000248073.2	-	1	707	c.633C>A	c.(631-633)ttC>ttA	p.F211L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	211					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ATATTCCAGTGAAGGAAATCA	0.423																																																	0													56	57	57					19																	14910316		2203	4300	6503	SO:0001583	missense	0			X89676	CCDS12317.1	19p13.1	2012-08-09						"GPCR / Class A : Olfactory receptors"	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.633C>A	19.37:g.14910316G>T	ENSP00000248073:p.Phe211Leu		Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F211L	ENST00000248073.2	37	c.633	CCDS12317.1	19	.	.	.	.	.	.	.	.	.	.	g	0.100	-1.154046	0.01700	.	.	ENSG00000127530	ENST00000248073	T	0.32988	1.43	3.64	-7.27	0.01461	GPCR, rhodopsin-like superfamily (1);	0.568503	0.13011	N	0.420826	T	0.08626	0.0214	N	0.05078	-0.115	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25257	-1.0137	10	0.02654	T	1	.	6.6339	0.22872	0.4015:0.3491:0.2493:0.0	.	211	O76099	OR7C1_HUMAN	L	211	ENSP00000248073:F211L	ENSP00000248073:F211L	F	-	3	2	OR7C1	14771316	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.655000	0.00402	-2.279000	0.00676	-1.153000	0.01818	TTC	OR7C1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127530		0.423	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C1	HGNC	protein_coding	OTTHUMT00000466519.1		0	31	0	G			14910316	-1			no_errors	ENST00000248073	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	T	T	14910316	G	T	14910316	3	4	34	1	0	0	0	0	1	0	0	0	11256	1281	45	3	331	3	OR7C1	19	14910316	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2043749	14910316	44218667	351	8324											
JAK3	3718	genome.wustl.edu	37	chr19	17937660	17937660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagctgggggcccagggcGctgaatgatggccggtcctg	5	7	17	12	2	0	2	0	2	0	0	2	2	2	2	4	5	1	2	4	5	1	0	rs138593705	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:17937660G>T	ENST00000527670.1	-	23	3296	c.3267C>A	c.(3265-3267)agC>agA	p.S1089R	JAK3_ENST00000458235.1_Missense_Mutation_p.S1089R			P52333	JAK3_HUMAN	Janus kinase 3	1089	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.S1089S(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGCCCAGGGCGCTGAATGATG	0.642		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	2	Substitution - coding silent(2)	endometrium(2)											74	71	72					19																	17937660		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3267C>A	19.37:g.17937660G>T	ENSP00000432511:p.Ser1089Arg		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1089R	ENST00000527670.1	37	c.3267	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.702505	0.00719	.	.	ENSG00000105639	ENST00000458235;ENST00000527670	D;D	0.82984	-1.67;-1.67	3.61	-6.07	0.02158	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.73536	0.3599	N	0.21282	0.65	0.09310	N	0.999998	D	0.56968	0.978	P	0.53266	0.722	T	0.63972	-0.6516	9	0.07644	T	0.81	0.1145	11.3371	0.49511	0.7785:0.0:0.2215:0.0	.	1089	P52333	JAK3_HUMAN	R	1089	ENSP00000391676:S1089R;ENSP00000432511:S1089R	ENSP00000391676:S1089R	S	-	3	2	JAK3	17798660	0.000000	0.05858	0.008000	0.14137	0.176000	0.22953	-1.577000	0.02127	-1.143000	0.02866	-0.674000	0.03794	AGC	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105639		0.642	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1		0	88	0	G	NM_000215		17937660	-1			no_errors	ENST00000458235	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.000	T	T	17937660	G	T	17937660	3	4	34	1	0	0	0	0	1	0	0	0	7966	1078	38	2	111	2	JAK3	19	17937660	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3027344	17937660	41191323	352	8325											
ZNF486	90649	genome.wustl.edu	37	chr19	20296818	20296818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attattgtctctaagccagaCctgatcacctgtctggagca	10	12	8	11	0	3	2	1	1	2	1	4	3	3	3	3	1	2	1	3	1	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:20296818C>A	ENST00000335117.8	+	3	237	c.180C>A	c.(178-180)gaC>gaA	p.D60E	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.D60E	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTAAGCCAGACCTGATCACCT	0.378																																																	0													75	79	77					19																	20296818		2170	4290	6460	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.180C>A	19.37:g.20296818C>A	ENSP00000335042:p.Asp60Glu		Q0VG00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D60E	ENST00000335117.8	37	c.180	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	c	4.845	0.157134	0.09236	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.00856	5.61	0.109	0.109	0.14578	Krueppel-associated box (3);	.	.	.	.	T	0.01254	0.0041	N	0.17674	0.51	0.09310	N	1	P	0.51449	0.945	P	0.53102	0.718	T	0.55592	-0.8117	8	0.46703	T	0.11	.	.	.	.	.	60	Q96H40	ZN486_HUMAN	E	99;60	ENSP00000335042:D60E	ENSP00000335042:D60E	D	+	3	2	ZNF486	20157818	0.659000	0.27411	0.091000	0.20842	0.092000	0.18411	-0.569000	0.05902	0.181000	0.19994	0.184000	0.17185	GAC	ZNF486	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256229		0.378	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	-	0	54	0	C	NM_052852		20296818	1	tier1	-	no_errors	ENST00000335117	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.103	A	A	20296818	C	A	20296818	3	1	34	1	0	0	0	0	1	0	0	0	17987	506	18	3	190	3	ZNF486	19	20296818	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2359158	20296818	38832165	353	8326											
FFAR3	2865	genome.wustl.edu	37	chr19	35850416	35850416	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgctacagccgcctggtGtggatcctcggcagaggggg	6	8	16	11	2	0	1	0	0	0	1	2	2	1	2	3	5	4	2	3	5	2	2	rs146211359	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:35850416G>T	ENST00000327809.4	+	2	825	c.624G>T	c.(622-624)gtG>gtT	p.V208V	FFAR3_ENST00000594310.1_Silent_p.V208V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	208					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCCGCCTGGTGTGGATCCTCG	0.652																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													16	15	16					19																	35850416		2191	4236	6427	SO:0001819	synonymous_variant	0			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.624G>T	19.37:g.35850416G>T			B2RWM8|Q14CM7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.V208	ENST00000327809.4	37	c.624	CCDS12459.1	19																																																																																			FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	ENSG00000185897		0.652	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	-	0	93	0	G	NM_005304		35850416	1	tier1	-	no_errors	ENST00000327809	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.682	T	T	35850416	G	T	35850416	2	4	34	1	0	0	0	0	0	0	0	1	5851	1364	48	3		3	FFAR3	19	35850416	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	15553598	35850416	23278567	354	8327											
ZNF230	7773	genome.wustl.edu	37	chr19	44515108	44515108	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggtccacacagcagagaAactgtacaaatctgaggagt	15	7	10	9	0	1	2	0	1	1	1	2	4	2	3	1	2	3	2	1	2	3	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:44515108A>T	ENST00000429154.2	+	5	1145	c.917A>T	c.(916-918)aAa>aTa	p.K306I		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ACAGCAGAGAAACTGTACAAA	0.413																																					GBM(175;914 2069 22996 47111 52600)												0													143	139	141					19																	44515108		2203	4300	6503	SO:0001583	missense	0			U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"Zinc fingers, C2H2-type", "-"	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		ENST00000429154.2:c.917A>T	19.37:g.44515108A>T	ENSP00000409318:p.Lys306Ile		O15322|Q504X7|Q86W84|Q9P1U6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K306I	ENST00000429154.2	37	c.917	CCDS33044.1	19	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405507	0.62288	.	.	ENSG00000159882	ENST00000429154	T	0.33654	1.4	2.55	1.49	0.22878	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63426	0.2510	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62704	-0.6798	9	0.87932	D	0	.	6.4912	0.22117	0.8675:0.0:0.1325:0.0	.	306	Q9UIE0	ZN230_HUMAN	I	306	ENSP00000409318:K306I	ENSP00000409318:K306I	K	+	2	0	ZNF230	49206948	0.000000	0.05858	0.038000	0.18304	0.573000	0.36030	0.122000	0.15687	0.209000	0.20645	0.172000	0.16884	AAA	ZNF230	-	pfscan_Znf_C2H2	ENSG00000159882		0.413	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	HGNC	protein_coding	OTTHUMT00000460456.1	-	0	21	0	A			44515108	1	tier1	-	no_errors	ENST00000429154	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.992	T	T	44515108	A	T	44515108	3	4	34	1	0	0	0	0	1	0	0	0	17832	14	1	5	931	5	ZNF230	19	44515108	Missense_Mutation	SNP	A	TCGA-JY-A6F8-01A-11D-A33E-09	8664692	44515108	14613875	355	8328											
NKPD1	284353	genome.wustl.edu	37	chr19	45659086	45659086	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggcggcagccgaaaggGgcatagaaacccacggtcac	12	3	14	12	3	1	1	1	0	0	1	1	2	1	1	2	5	3	3	2	5	3	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:45659086G>T	ENST00000438936.2	-	0	163				NKPD1_ENST00000317951.4_Silent_p.A206A|NKPD1_ENST00000429338.1_5'Flank|NKPD1_ENST00000589776.1_5'Flank			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1							integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		AGCCGAAAGGGGCATAGAAAC	0.602																																																	0													166	152	156					19																	45659086		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.-49C>A	19.37:g.45659086G>T			B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	pfam_KAP_NTPase	p.A206	ENST00000438936.2	37	c.618		19																																																																																			NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.602	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2		0	84	0	G	NM_198478		45659086	-1			no_errors	ENST00000317951	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	45659086	G	T	45659086	1	4	34	0	1	0	0	0	0	0	0	0	10485	1219	43	3		3	NKPD1	19	45659086	5'UTR	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1143978	45659086	13469897	356	8329											
NOVA2	4858	genome.wustl.edu	37	chr19	46464310	46464310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcttgatggtggctcCggtctccttctgcagctgca	5	11	14	11	1	2	2	0	1	2	1	4	3	3	2	2	4	4	5	2	4	0	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:46464310C>T	ENST00000263257.5	-	2	381	c.187G>A	c.(187-189)Gga>Aga	p.G63R		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	63	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATGGTGGCTCCGGTCTCCTTC	0.637																																																	0													52	50	51					19																	46464310		2202	4299	6501	SO:0001583	missense	0			U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"neuro-oncological ventral antigen 3"	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.187G>A	19.37:g.46464310C>T	ENSP00000263257:p.Gly63Arg		O43267|Q9UEA1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G63R	ENST00000263257.5	37	c.187	CCDS12679.1	19	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853345	0.71719	.	.	ENSG00000104967	ENST00000263257	T	0.50001	0.76	5.03	3.92	0.45320	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	M	0.83953	2.67	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.73487	-0.3967	10	0.87932	D	0	-11.6267	12.2775	0.54744	0.1703:0.8297:0.0:0.0	.	63	Q9UNW9	NOVA2_HUMAN	R	63	ENSP00000263257:G63R	ENSP00000263257:G63R	G	-	1	0	NOVA2	51156150	1.000000	0.71417	0.944000	0.38274	0.953000	0.61014	7.146000	0.77373	2.518000	0.84900	0.456000	0.33151	GGA	NOVA2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000104967		0.637	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOVA2	HGNC	protein_coding	OTTHUMT00000437210.2	-	0	85	0	C	NM_002516		46464310	-1	tier1	-	no_errors	ENST00000263257	ensembl	human	known	74_37	missense	55.81	19	24	SNP	0.993	T	T	46464310	C	T	46464310	3	4	34	1	0	0	0	0	1	0	0	0	10594	661	23	1	1303	1	NOVA2	19	46464310	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	805224	46464310	12664673	357	8330											
EHD2	30846	genome.wustl.edu	37	chr19	48244617	48244617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaagctggaaggccaCgggctgcccgccaacctgcc	8	3	14	16	2	0	0	0	0	0	0	0	2	0	1	6	4	4	2	6	4	3	0	rs200296704		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:48244617C>A	ENST00000263277.3	+	6	1811	c.1560C>A	c.(1558-1560)caC>caA	p.H520Q	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Missense_Mutation_p.H384Q	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	520	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.H520H(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGGAAGGCCACGGGCTGCCCG	0.697																																																	1	Substitution - coding silent(1)	large_intestine(1)											22	21	21					19																	48244617		2203	4299	6502	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1560C>A	19.37:g.48244617C>A	ENSP00000263277:p.His520Gln		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.H520Q	ENST00000263277.3	37	c.1560	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	11.88	1.772004	0.31320	.	.	ENSG00000024422	ENST00000263277;ENST00000540364;ENST00000538399;ENST00000540884	T;T	0.27720	1.65;1.65	3.88	0.802	0.18686	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.31371	0.925	0.53688	D	0.999977	B	0.20052	0.041	B	0.25506	0.061	T	0.08086	-1.0739	9	.	.	.	-32.5201	6.2055	0.20600	0.0:0.5392:0.0:0.4608	.	520	Q9NZN4	EHD2_HUMAN	Q	520;510;384;203	ENSP00000263277:H520Q;ENSP00000439036:H384Q	.	H	+	3	2	EHD2	52936429	0.094000	0.21725	0.998000	0.56505	0.970000	0.65996	-0.461000	0.06712	0.007000	0.14760	0.462000	0.41574	CAC	EHD2	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000024422		0.697	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1		0	50	0	C			48244617	1			no_errors	ENST00000263277	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.999	A	A	48244617	C	A	48244617	3	1	34	1	0	0	0	0	1	0	0	0	4992	535	19	2	1578	2	EHD2	19	48244617	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1780307	48244617	10884366	358	8331											
ZNF114	163071	genome.wustl.edu	37	chr19	48785720	48785720	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatctctacagagacgtGatgctggaaaattctaggaa	15	9	11	6	1	2	2	0	1	2	1	3	6	2	5	0	3	2	1	0	3	6	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:48785720G>T	ENST00000595607.1	+	5	596	c.102G>T	c.(100-102)gtG>gtT	p.V34V	ZNF114_ENST00000597695.1_5'UTR|ZNF114_ENST00000600687.1_Silent_p.V34V|ZNF114_ENST00000315849.1_Silent_p.V34V			Q8NC26	ZN114_HUMAN	zinc finger protein 114	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		ACAGAGACGTGATGCTGGAAA	0.522																																																	0													119	121	120					19																	48785720		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.102G>T	19.37:g.48785720G>T			A8K6B0|Q08AQ6	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V34	ENST00000595607.1	37	c.102	CCDS12713.1	19																																																																																			ZNF114	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000178150		0.522	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	-	0	31	0	G	NM_153608		48785720	1	tier1	-	no_errors	ENST00000315849	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.881	T	T	48785720	G	T	48785720	2	4	34	1	0	0	0	0	0	0	0	1	17764	1277	45	3		3	ZNF114	19	48785720	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	541103	48785720	10343263	359	8332											
FCGRT	2217	genome.wustl.edu	37	chr19	50028826	50028826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggatgaggagtgggctGccaggtggggggcagcggga	9	4	23	5	1	0	2	0	1	0	1	0	5	0	5	1	8	2	2	1	8	1	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:50028826G>A	ENST00000221466.5	+	6	1470	c.984G>A	c.(982-984)ctG>ctA	p.L328L	FCGRT_ENST00000596975.1_Silent_p.L236L|FCGRT_ENST00000426395.3_Silent_p.L328L|FCGRT_ENST00000599988.1_Silent_p.L62L|RCN3_ENST00000270645.3_5'Flank	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	328					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGAGTGGGCTGCCAGGTGGGG	0.632																																																	0													40	36	37					19																	50028826		2203	4300	6503	SO:0001819	synonymous_variant	0			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"Immunoglobulin superfamily / C1-set domain containing"	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.984G>A	19.37:g.50028826G>A			Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L328	ENST00000221466.5	37	c.984	CCDS12770.1	19																																																																																			FCGRT	-	NULL	ENSG00000104870		0.632	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1		0	86	0	G			50028826	1			no_errors	ENST00000221466	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.953	A	A	50028826	G	A	50028826	2	1	34	1	0	0	0	0	0	0	0	1	5808	1306	46	3		3	FCGRT	19	50028826	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1243106	50028826	9100157	360	8333											
ZNF765	91661	genome.wustl.edu	37	chr19	53911118	53911118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagtttcagtggcaagaaGatgaaagaaatggccatgaa	16	9	12	4	0	1	6	1	3	0	3	1	6	1	6	1	2	0	2	1	2	5	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:53911118G>A	ENST00000396408.3	+	4	427	c.310G>A	c.(310-312)Gat>Aat	p.D104N	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GTGGCAAGAAGATGAAAGAAA	0.363																																																	0													82	84	83					19																	53911118		2198	4297	6495	SO:0001583	missense	0			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"Zinc fingers, C2H2-type", "-"	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.310G>A	19.37:g.53911118G>A	ENSP00000379689:p.Asp104Asn		A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D104N	ENST00000396408.3	37	c.310	CCDS46171.1	19	.	.	.	.	.	.	.	.	.	.	G	13.19	2.161885	0.38217	.	.	ENSG00000196417	ENST00000396408;ENST00000505866	T;T	0.07567	3.18;3.93	0.998	0.998	0.19857	.	.	.	.	.	T	0.08223	0.0205	L	0.43923	1.385	0.09310	N	1	B	0.21309	0.054	B	0.29524	0.103	T	0.40079	-0.9582	8	.	.	.	.	7.387	0.26888	0.0:0.0:1.0:0.0	.	104	Q7L2R6	ZN765_HUMAN	N	104;51	ENSP00000379689:D104N;ENSP00000421579:D51N	.	D	+	1	0	ZNF765	58602930	0.000000	0.05858	0.048000	0.18961	0.283000	0.27025	0.061000	0.14366	0.446000	0.26666	0.174000	0.16983	GAT	ZNF765	-	NULL	ENSG00000196417		0.363	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF765	HGNC	protein_coding	OTTHUMT00000371603.1	-	0	39	0	G	NM_138372		53911118	1	tier1	-	no_errors	ENST00000396408	ensembl	human	known	74_37	missense	16.36	92	18	SNP	0.097	A	A	53911118	G	A	53911118	3	1	34	1	0	0	0	0	1	0	0	0	18187	942	33	3	320	3	ZNF765	19	53911118	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	3882292	53911118	5217865	361	8334											
MBOAT7	79143	genome.wustl.edu	37	chr19	54692105	54692105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgagggcccaggtcccgaGgatggtgaccagagaatgca	12	5	15	9	1	0	3	0	2	0	1	1	6	1	4	3	4	1	1	3	4	2	0			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr19:54692105G>T	ENST00000245615.1	-	3	652	c.172C>A	c.(172-174)Ctc>Atc	p.L58I	TSEN34_ENST00000396388.2_5'Flank|MBOAT7_ENST00000474910.1_5'UTR|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000391754.1_Missense_Mutation_p.L58I|TSEN34_ENST00000396383.1_5'Flank|TSEN34_ENST00000429671.2_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.P27H|MBOAT7_ENST00000431666.2_Missense_Mutation_p.P27H	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	58					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAGGTCCCGAGGATGGTGACC	0.622																																					NSCLC(97;826 2151 10470 22540)												0													57	64	62					19																	54692105		2203	4300	6503	SO:0001583	missense	0			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"lysophosphatidylinositol acyltransferase"	606048	"leukocyte receptor cluster (LRC) member 4"	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.172C>A	19.37:g.54692105G>T	ENSP00000245615:p.Leu58Ile		A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	pfam_MBOAT_fam	p.L58I	ENST00000245615.1	37	c.172	CCDS12883.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.08|13.08	2.131032|2.131032	0.37630|0.37630	.|.	.|.	ENSG00000125505|ENSG00000125505	ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320|ENST00000431666;ENST00000338624	T;T;T|T;T	0.51325|0.18657	2.07;1.34;0.71|2.2;2.2	4.06|4.06	3.01|3.01	0.34805|0.34805	.|.	0.282463|.	0.26609|.	N|.	0.023422|.	T|T	0.18676|0.18676	0.0448|0.0448	.|.	.|.	.|.	0.24382|0.24382	N|N	0.994785|0.994785	B;B|P	0.29188|0.49447	0.115;0.236|0.924	B;B|B	0.26416|0.42555	0.069;0.056|0.391	T|T	0.06338|0.06338	-1.0832|-1.0832	9|8	0.09590|0.41790	T|T	0.72|0.15	-9.8698|-9.8698	10.0462|10.0462	0.42188|0.42188	0.1057:0.0:0.8943:0.0|0.1057:0.0:0.8943:0.0	.|.	40;58|27	B4DDH8;Q96N66|Q96N66-2	.;MBOA7_HUMAN|.	I|H	58;10;58;58;58|27	ENSP00000245615:L58I;ENSP00000375634:L58I;ENSP00000388250:L58I|ENSP00000410503:P27H;ENSP00000344377:P27H	ENSP00000245615:L58I|ENSP00000344377:P27H	L|P	-|-	1|2	0|0	MBOAT7|MBOAT7	59383917|59383917	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.815000|0.815000	0.46073|0.46073	3.144000|3.144000	0.50616|0.50616	0.815000|0.815000	0.34398|0.34398	0.561000|0.561000	0.74099|0.74099	CTC|CCT	MBOAT7	-	NULL	ENSG00000125505		0.622	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	-	0	186	0	G	NM_024298		54692105	-1	tier1	-	no_errors	ENST00000245615	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	54692105	G	T	54692105	3	4	34	1	0	0	0	0	1	0	0	0	9396	1000	35	3	1274	3	MBOAT7	19	54692105	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	780987	54692105	4436878	362	8335											
C20orf54	113278	genome.wustl.edu	37	chr20	746258	746258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggtgaccaggaggggcCcgatgttggccagctggatg	7	6	19	9	1	0	1	0	1	0	0	0	4	0	3	3	6	1	3	3	6	0	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:746258C>G	ENST00000217254.7	-	2	402	c.161G>C	c.(160-162)gGg>gCg	p.G54A	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G54A	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	54					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										CAGGAGGGGCCCGATGTTGGC	0.642																																																	0													42	37	38					20																	746258		2202	4299	6501	SO:0001583	missense	0			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.161G>C	20.37:g.746258C>G	ENSP00000217254:p.Gly54Ala		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	pfam_Endogenous_retrovirus_rcpt	p.G54A	ENST00000217254.7	37	c.161	CCDS13007.1	20	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340507	0.81911	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.80393	-1.37;-1.37	5.79	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89619	0.3847	10	0.48119	T	0.1	-25.6359	15.3752	0.74598	0.0:0.86:0.14:0.0	.	54;54	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	A	54	ENSP00000217254:G54A;ENSP00000371370:G54A	ENSP00000217254:G54A	G	-	2	0	C20orf54	694258	1.000000	0.71417	0.130000	0.21974	0.955000	0.61496	6.006000	0.70724	1.399000	0.46721	0.655000	0.94253	GGG	SLC52A3	-	NULL	ENSG00000101276		0.642	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	-	0	73	0	C	NM_033409		746258	-1	tier1	-	no_errors	ENST00000217254	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.997	G	G	746258	C	G	746258	3	3	34	1	0	0	0	0	1	0	0	0	2121	623	22	5	1264	5	C20orf54	20	746258	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09		746258	62279262	363	8336											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3672164	3672164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagttgcccacaggccCagggccacccaggaggcggc	7	3	17	14	1	0	0	0	0	0	0	0	2	0	2	4	7	1	1	4	7	0	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:3672164C>A	ENST00000344754.4	-	17	4413	c.4414G>T	c.(4414-4416)Ggg>Tgg	p.G1472W	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G1472W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1472	Ig-like C2-type 15.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCACAGGCCCAGGGCCACCC	0.687																																																	0													49	53	52					20																	3672164		2203	4299	6502	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4414G>T	20.37:g.3672164C>A	ENSP00000341141:p.Gly1472Trp		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G1472W	ENST00000344754.4	37	c.4414	CCDS13060.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.60|10.60	1.397048|1.397048	0.25205|0.25205	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.74632|.	-0.86;-0.86|.	5.34|5.34	-3.55|-3.55	0.04639|0.04639	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.952681|.	0.08631|.	N|.	0.917025|.	T|T	0.40719|0.40719	0.1128|0.1128	M|M	0.63843|0.63843	1.955|1.955	0.09310|0.09310	N|N	1|1	D;D|.	0.71674|.	0.998;0.997|.	D;D|.	0.68039|.	0.955;0.928|.	T|T	0.43972|0.43972	-0.9358|-0.9358	10|5	0.62326|.	D|.	0.03|.	.|.	6.4944|6.4944	0.22133|0.22133	0.0:0.3811:0.1246:0.4943|0.0:0.3811:0.1246:0.4943	.|.	1472;1472|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	W|L	1472|285	ENSP00000341141:G1472W;ENSP00000202578:G1472W|.	ENSP00000202578:G1472W|.	G|W	-|-	1|2	0|0	SIGLEC1|SIGLEC1	3620164|3620164	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	-0.479000|-0.479000	0.06567|0.06567	-0.884000|-0.884000	0.03976|0.03976	-0.768000|-0.768000	0.03414|0.03414	GGG|TGG	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000088827		0.687	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0	73	0	C	NM_023068		3672164	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	A	A	3672164	C	A	3672164	3	1	34	1	0	0	0	0	1	0	0	0	14350	594	21	3	735	3	SIGLEC1	20	3672164	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2925906	3672164	59353356	364	8337											
PYGB	5834	genome.wustl.edu	37	chr20	25259011	25259011	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttcgtggtggccgccacGctccaggacatcatccgccg	6	8	11	16	5	1	0	1	0	0	0	4	1	3	1	5	3	1	1	5	3	1	2	rs200070805	byFrequency	TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:25259011G>T	ENST00000216962.4	+	8	1022	c.912G>T	c.(910-912)acG>acT	p.T304T		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	304					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGCCGCCACGCTCCAGGACA	0.612																																																	0													81	74	77					20																	25259011		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.912G>T	20.37:g.25259011G>T			Q96AK1|Q9NPX8	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.T304	ENST00000216962.4	37	c.912	CCDS13171.1	20																																																																																			PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.612	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	-	0	70	0	G	NM_002862		25259011	1	tier1	-	no_errors	ENST00000216962	ensembl	human	known	74_37	silent	6.94	67	5	SNP	0.941	T	T	25259011	G	T	25259011	2	4	34	1	0	0	0	0	0	0	0	1	12905	1074	38	2		2	PYGB	20	25259011	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	21586847	25259011	37766509	365	8338											
RBM12	10137	genome.wustl.edu	37	chr20	34242887	34242887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagttggatactgttgtggGcaagtttaccctgctactca	10	13	10	8	0	1	0	1	0	0	0	1	1	1	1	1	2	4	5	1	2	5	6			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:34242887G>T	ENST00000374114.3	-	3	621	c.358C>A	c.(358-360)Ccc>Acc	p.P120T	RBM12_ENST00000359646.1_Missense_Mutation_p.P120T|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397442.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.P120T|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	120						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ACTGTTGTGGGCAAGTTTACC	0.438											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													204	194	197					20																	34242887		2203	4300	6503	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.358C>A	20.37:g.34242887G>T	ENSP00000363228:p.Pro120Thr	846	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P120T	ENST00000374114.3	37	c.358	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432392	0.25813	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.34072	2.09;2.09;2.09;1.38;1.81;1.89	5.5	4.56	0.56223	.	0.068637	0.64402	D	0.000012	T	0.25158	0.0611	L	0.27053	0.805	0.80722	D	1	P	0.39809	0.689	B	0.34590	0.186	T	0.03933	-1.0991	10	0.33141	T	0.24	-4.5312	14.5525	0.68078	0.0698:0.0:0.9302:0.0	.	120	Q9NTZ6	RBM12_HUMAN	T	120	ENSP00000363228:P120T;ENSP00000352668:P120T;ENSP00000363217:P120T;ENSP00000411036:P120T;ENSP00000392642:P120T;ENSP00000411692:P120T	ENSP00000352668:P120T	P	-	1	0	RBM12	33706301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.629000	0.83207	1.567000	0.49668	0.555000	0.69702	CCC	RBM12	-	NULL	ENSG00000244462		0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1		0	33	0	G	NM_006047		34242887	-1			no_errors	ENST00000359646	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	34242887	G	T	34242887	3	4	34	1	0	0	0	0	1	0	0	0	13158	1203	42	3	2444	3	RBM12	20	34242887	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8983876	34242887	28782633	366	8339											
C20orf111	51526	genome.wustl.edu	37	chr20	42825850	42825850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagagttctggcgtgcaGcgactgagagtagtcctcaa	11	8	13	9	2	2	3	1	1	1	3	3	5	3	3	1	1	2	3	1	1	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:42825850G>T	ENST00000372970.2	-	6	901	c.721C>A	c.(721-723)Ctg>Atg	p.L241M	OSER1_ENST00000255174.2_Missense_Mutation_p.L241M			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	241					cellular response to hydrogen peroxide (GO:0070301)												CTGGCGTGCAGCGACTGAGAG	0.532																																																	0													123	107	113					20																	42825850		2203	4300	6503	SO:0001583	missense	0			AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"peroxide-inducible transcript 1", "oxidative stress-responsive 1"		"chromosome 20 open reading frame 111"	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.721C>A	20.37:g.42825850G>T	ENSP00000362061:p.Leu241Met		B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	pfam_DUF776	p.L241M	ENST00000372970.2	37	c.721	CCDS13327.1	20	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671618	0.47781	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.50277	0.75;0.75	6.03	5.0	0.66597	.	0.533290	0.19568	N	0.111153	T	0.36496	0.0969	L	0.27053	0.805	0.39959	D	0.974645	P	0.50710	0.938	P	0.47470	0.548	T	0.29701	-1.0003	10	0.56958	D	0.05	-7.0448	4.0207	0.09664	0.3078:0.0:0.6922:0.0	.	241	Q9NX31	CT111_HUMAN	M	241	ENSP00000255174:L241M;ENSP00000362061:L241M	ENSP00000255174:L241M	L	-	1	2	C20orf111	42259264	0.912000	0.30974	0.990000	0.47175	0.696000	0.40369	1.863000	0.39459	2.861000	0.98227	0.655000	0.94253	CTG	OSER1	-	NULL	ENSG00000132823		0.532	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSER1	HGNC	protein_coding	OTTHUMT00000079334.2		0	26	0	G	NM_016470		42825850	-1			no_errors	ENST00000255174	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.954	T	T	42825850	G	T	42825850	3	4	34	1	0	0	0	0	1	0	0	0	2087	962	34	3	161	3	C20orf111	20	42825850	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	8582963	42825850	20199670	367	8340											
PLTP	5360	genome.wustl.edu	37	chr20	44536519	44536519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatccctgaggtgatgaaCgtggagagaaaatcatacac	14	7	11	9	2	1	4	1	3	0	1	2	6	2	5	1	2	2	1	1	2	4	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:44536519C>T	ENST00000477313.1	-	5	1104	c.510G>A	c.(508-510)acG>acA	p.T170T	PLTP_ENST00000354050.4_Silent_p.T118T|PLTP_ENST00000542937.1_Silent_p.T190T|PLTP_ENST00000372420.1_Silent_p.T82T|PLTP_ENST00000372431.3_Silent_p.T170T|PLTP_ENST00000420868.2_Silent_p.T75T			P55058	PLTP_HUMAN	phospholipid transfer protein	170					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGGTGATGAACGTGGAGAGAA	0.587																																																	0													76	62	67					20																	44536519		2201	4298	6499	SO:0001819	synonymous_variant	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.510G>A	20.37:g.44536519C>T			A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.T190	ENST00000477313.1	37	c.570	CCDS13386.1	20																																																																																			PLTP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000100979		0.587	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1	-	0	64	0	C	NM_006227		44536519	-1	tier1	-	no_errors	ENST00000542937	ensembl	human	known	74_37	silent	50.00	29	29	SNP	0.098	T	T	44536519	C	T	44536519	2	4	34	1	0	0	0	0	0	0	0	1	12153	523	19	1		1	PLTP	20	44536519	Silent	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	1710669	44536519	18489001	368	8341											
PCK1	5105	genome.wustl.edu	37	chr20	56138620	56138620	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatcttgtccccaacaGattctgggtataaccaaccc	14	9	6	12	0	2	2	0	0	2	2	3	2	3	2	4	1	3	1	4	1	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:56138620G>T	ENST00000319441.4	+	6	962		c.e6-1		PCK1_ENST00000535860.1_Splice_Site|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)						carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)	p.?(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTCCCCAACAGATTCTGGGTA	0.522																																																	1	Unknown(1)	lung(1)											55	56	55					20																	56138620		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.799-1G>T	20.37:g.56138620G>T			A8K437|B4DT64|Q8TCA3|Q9UJD2	Splice_Site	SNP	-	e5-1	ENST00000319441.4	37	c.799-1	CCDS13460.1	20	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958588	0.53400	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2569	0.93949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCK1	55572026	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.338000	0.96553	2.561000	0.86390	0.561000	0.74099	.	PCK1	-	-	ENSG00000124253		0.522	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK1	HGNC	protein_coding	OTTHUMT00000079851.2	-	0	66	0	G		Intron	56138620	1	tier1	-	no_errors	ENST00000319441	ensembl	human	known	74_37	splice_site	5.48	69	4	SNP	1.000	T	T	56138620	G	T	56138620	5	4	34	1	0	0	0	0	0	0	1	0	11620	956	33	3	816	3	PCK1	20	56138620	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	11602101	56138620	6886900	369	8342											
CHRNA4	1137	genome.wustl.edu	37	chr20	61992443	61992443	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccccgtaacttaccGcgcaggaggccggtccccag	6	4	12	19	6	0	0	0	0	0	0	1	1	1	1	7	3	2	2	7	3	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:61992443G>A	ENST00000370263.4	-	1	296	c.75C>T	c.(73-75)cgC>cgT	p.R25R	RP11-261N11.8_ENST00000370257.1_RNA|CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	25					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GTAACTTACCGCGCAGGAGGC	0.731																																																	0													2	3	3					20																	61992443		1498	3134	4632	SO:0001630	splice_region_variant	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.76+1C>T	20.37:g.61992443G>A			Q4JGR7|Q4VAQ5|Q4VAQ6	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R25	ENST00000370263.4	37	c.75	CCDS13517.1	20																																																																																			CHRNA4	-	NULL	ENSG00000101204		0.731	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	-	0	21	0	G		Silent	61992443	-1	tier1	-	no_errors	ENST00000370263	ensembl	human	known	74_37	silent	94.12	1	16	SNP	0.030	A	A	61992443	G	A	61992443	5	1	34	1	0	0	0	0	0	0	1	0	3392	1101	38	1	1832	1	CHRNA4	20	61992443	Splice_Site	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	5853823	61992443	1033077	370	8343											
GMEB2	26205	genome.wustl.edu	37	chr20	62221507	62221508	+	Frame_Shift_Ins	INS	-	-	G																															gccgtgtgctcctcaggcccINSgggggcagcccctgcgggca																								rs201863145		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:62221507_62221508insG	ENST00000266068.1	-	9	2005_2006	c.1527_1528insC	c.(1525-1530)cccgggfs	p.G510fs	GMEB2_ENST00000370077.1_Frame_Shift_Ins_p.G510fs|GMEB2_ENST00000370069.1_Frame_Shift_Ins_p.G459fs			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	510					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TCCTCAGGCCCGGGGGCAGCCC	0.698																																																	0																																										SO:0001589	frameshift_variant	0			AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.1528dupC	20.37:g.62221512_62221512dupG	ENSP00000266068:p.Gly510fs		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Frame_Shift_Ins	INS	pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom	p.G509fs	ENST00000266068.1	37	c.1528_1527	CCDS13528.1	20																																																																																			GMEB2	-	NULL	ENSG00000101216		0.698	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMEB2	HGNC	protein_coding	OTTHUMT00000080166.1		0	40	0	-	NM_012384		62221508	-1	tier1		no_errors	ENST00000266068	ensembl	human	known	74_37	frame_shift_ins	7.41	25	2	INS	0.001:0.000	G	G	62221508	-	G	62221507	7	5	34	1	0	1	1	0	0	0	0	0	6514	652	23	0	68	0	GMEB2	20	62221507	Frame_Shift_Ins	INS	-	TCGA-JY-A6F8-01A-11D-A33E-09	229064	62221507	804013	371	8344											
TPD52L2	7165	genome.wustl.edu	37	chr20	62518951	62518951	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactcaataagtatgccaGccatgaggtaatgtatgcct	12	10	9	10	0	1	1	1	1	0	0	1	1	1	1	4	1	3	3	4	1	5	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr20:62518951G>T	ENST00000346249.4	+	6	552				TPD52L2_ENST00000352482.4_Missense_Mutation_p.A171S|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000217121.5_Missense_Mutation_p.A180S|TPD52L2_ENST00000351424.4_Missense_Mutation_p.A160S|TPD52L2_ENST00000348257.5_Intron|TPD52L2_ENST00000358548.4_Missense_Mutation_p.A151S	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2						regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A180T(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					AAGTATGCCAGCCATGAGGTA	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											179	171	174					20																	62518951		2203	4300	6503	SO:0001627	intron_variant	0			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.477-1592G>T	20.37:g.62518951G>T			B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	pfam_TPD52	p.A180S	ENST00000346249.4	37	c.538	CCDS13540.1	20	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949218	0.73787	.	.	ENSG00000101150	ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T	0.33216	1.42;1.47;1.43;1.47	5.25	4.3	0.51218	.	0.205916	0.39475	N	0.001353	T	0.41119	0.1145	M	0.72118	2.19	0.80722	D	1	B;P;P;P	0.44429	0.449;0.592;0.698;0.835	B;B;P;P	0.48901	0.306;0.397;0.486;0.594	T	0.27571	-1.0070	10	0.41790	T	0.15	-6.5198	11.0532	0.47903	0.0872:0.0:0.9128:0.0	.	151;160;171;180	O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.	S	171;160;180;151	ENSP00000344647:A171S;ENSP00000340006:A160S;ENSP00000217121:A180S;ENSP00000351350:A151S	ENSP00000217121:A180S	A	+	1	0	TPD52L2	61989395	1.000000	0.71417	0.797000	0.32132	0.891000	0.51852	5.509000	0.67012	1.353000	0.45828	0.655000	0.94253	GCC	TPD52L2	-	pfam_TPD52	ENSG00000101150		0.567	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L2	HGNC	protein_coding	OTTHUMT00000080248.1		0	32	0	G			62518951	1			no_errors	ENST00000217121	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.973	T	T	62518951	G	T	62518951	1	4	34	0	1	0	0	0	0	0	0	0	16447	971	34	3		3	TPD52L2	20	62518951	Intron	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	297444	62518951	506569	372	8345											
HUNK	30811	genome.wustl.edu	37	chr21	33340678	33340678	+	Frame_Shift_Del	DEL	A	A	-																															acacgggcaaagtgccctgtAatgtcacctatcccaacagg																										TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:33340678delA	ENST00000270112.2	+	6	1351	c.991delA	c.(991-993)aatfs	p.N331fs		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	331					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGTGCCCTGTAATGTCACCTA	0.547																																																	0													95	89	91					21																	33340678		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.991delA	21.37:g.33340678delA	ENSP00000270112:p.Asn331fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N331fs	ENST00000270112.2	37	c.991	CCDS13610.1	21																																																																																			HUNK	-	superfamily_Kinase-like_dom	ENSG00000142149		0.547	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1		0	76	0	A	NM_014586		33340678	1	tier1		no_errors	ENST00000270112	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	0.551	-	-	33340678	A	-	33340678	7	5	34	1	0	1	0	1	0	0	0	0	7485	362	13	0	1013	0	HUNK	21	33340678	Frame_Shift_Del	DEL	A	TCGA-JY-A6F8-01A-11D-A33E-09		33340678	14789217	373	8346											
SON	6651	genome.wustl.edu	37	chr21	34929491	34929491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattacttgaaatagccaaaGctaatgcagctgccatgtgt	14	11	8	8	0	0	1	0	1	0	0	0	1	0	1	2	0	6	3	2	0	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:34929491G>T	ENST00000356577.4	+	4	6665	c.6190G>T	c.(6190-6192)Gct>Tct	p.A2064S	SON_ENST00000381692.2_Missense_Mutation_p.A92S|SON_ENST00000300278.4_Missense_Mutation_p.A2064S|SON_ENST00000381679.4_Missense_Mutation_p.A2064S|SON_ENST00000290239.6_Missense_Mutation_p.A2064S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2064					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATAGCCAAAGCTAATGCAGC	0.393																																																	0													65	58	60					21																	34929491		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6190G>T	21.37:g.34929491G>T	ENSP00000348984:p.Ala2064Ser		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.A2064S	ENST00000356577.4	37	c.6190	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.68|14.68	2.608269|2.608269	0.46527|0.46527	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000381679;ENST00000421541|ENST00000436227	T;T;T;T|T	0.39056|0.31510	2.75;2.7;2.65;1.1|1.49	5.41|5.41	4.52|4.52	0.55395|0.55395	.|.	0.120124|.	0.37955|.	N|.	0.001873|.	T|T	0.49592|0.49592	0.1566|0.1566	M|M	0.65975|0.65975	2.015|2.015	0.46185|0.46185	D|D	0.998913|0.998913	D;P;P;D;D;P|.	0.61697|.	0.99;0.941;0.952;0.971;0.971;0.948|.	P;B;P;P;P;P|.	0.58077|.	0.832;0.355;0.612;0.832;0.783;0.71|.	T|T	0.55347|0.55347	-0.8155|-0.8155	10|7	0.54805|0.87932	T|D	0.06|0	.|.	16.4227|16.4227	0.83772|0.83772	0.0:0.1317:0.8683:0.0|0.0:0.1317:0.8683:0.0	.|.	2064;92;2064;1745;2064;2064|.	P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3;P18583-6|.	.;.;SON_HUMAN;.;.;.|.	S|N	2064;2064;92;2064;2064;125|1058	ENSP00000348984:A2064S;ENSP00000290239:A2064S;ENSP00000300278:A2064S;ENSP00000371095:A2064S|ENSP00000400985:K1058N	ENSP00000290239:A2064S|ENSP00000400985:K1058N	A|K	+|+	1|3	0|2	SON|SON	33851361|33851361	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.818000|8.818000	0.91991|0.91991	1.405000|1.405000	0.46838|0.46838	0.655000|0.655000	0.94253|0.94253	GCT|AAG	SON	-	NULL	ENSG00000159140		0.393	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0	32	0	G	NM_138927		34929491	1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	34929491	G	T	34929491	3	4	34	1	0	0	0	0	1	0	0	0	14971	971	34	3	6204	3	SON	21	34929491	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	1588813	34929491	13200404	374	8347											
DOPEY2	9980	genome.wustl.edu	37	chr21	37602976	37602976	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtttctttgcatccaaGagctaatcgccaactttgcc	9	12	8	12	2	1	1	0	0	1	1	3	2	2	2	3	1	4	3	3	1	3	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:37602976G>T	ENST00000399151.3	+	14	1979	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	632					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCATCCAAGAGCTAATCGC	0.532																																																	0													83	82	82					21																	37602976		2203	4300	6503	SO:0001587	stop_gained	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1894G>T	21.37:g.37602976G>T	ENSP00000382104:p.Glu632*		D3DSG5|Q6PJQ7|Q9UEZ3	Nonsense_Mutation	SNP	pfam_Dopey_N	p.E632*	ENST00000399151.3	37	c.1894	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	39	7.658604	0.98415	.	.	ENSG00000142197	ENST00000399151	.	.	.	5.43	3.55	0.40652	.	0.196194	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.3405	10.7527	0.46219	0.0715:0.1331:0.7954:0.0	.	.	.	.	X	632	.	ENSP00000382104:E632X	E	+	1	0	DOPEY2	36524846	1.000000	0.71417	0.989000	0.46669	0.750000	0.42670	6.051000	0.71072	1.387000	0.46486	0.491000	0.48974	GAG	DOPEY2	-	NULL	ENSG00000142197		0.532	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1		0	78	0	G	NM_005128		37602976	1			no_errors	ENST00000399151	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T	T	37602976	G	T	37602976	4	4	34	1	0	0	0	0	0	1	0	0	4722	943	33	3	1944	3	DOPEY2	21	37602976	Nonsense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	2673485	37602976	10526919	375	8348											
BRWD1	54014	genome.wustl.edu	37	chr21	40587221	40587221	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttgcaattacactctCaggttcgttaaatgttctgg	9	16	8	8	1	3	1	1	1	3	0	5	1	3	1	0	2	2	4	0	2	4	5			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr21:40587221C>A	ENST00000333229.2	-	32	4054	c.3727G>T	c.(3727-3729)Gag>Tag	p.E1243*	BRWD1_ENST00000380800.3_Nonsense_Mutation_p.E1243*|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000342449.3_Nonsense_Mutation_p.E1243*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1243	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E1243K(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTACACTCTCAGGTTCGTTA	0.328																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - Missense(2)	cervix(2)											146	134	138					21																	40587221		2203	4300	6503	SO:0001587	stop_gained	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3727G>T	21.37:g.40587221C>A	ENSP00000330753:p.Glu1243*		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E1243*	ENST00000333229.2	37	c.3727	CCDS13662.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.656456|4.656456	0.88154|0.88154	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783|ENST00000424441	.|.	.|.	.|.	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	0.425221|.	0.23738|.	N|.	0.045056|.	.|.	.|.	.|.	.|.	.|.	.|.	0.24318|0.24318	N|N	0.995057|0.995057	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.21014|.	T|.	0.42|.	.|.	10.7045|10.7045	0.45948|0.45948	0.0:0.7957:0.1333:0.071|0.0:0.7957:0.1333:0.071	.|.	.|.	.|.	.|.	X|L	1243;1243;1243;247|228	.|.	ENSP00000330753:E1243X|.	E|X	-|-	1|2	0|2	BRWD1|BRWD1	39509091|39509091	0.002000|0.002000	0.14202|0.14202	0.928000|0.928000	0.36995|0.36995	0.990000|0.990000	0.78478|0.78478	0.716000|0.716000	0.25836|0.25836	1.328000|1.328000	0.45358|0.45358	0.655000|0.655000	0.94253|0.94253	GAG|TGA	BRWD1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000185658		0.328	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3		0	25	0	C	NM_033656		40587221	-1			no_errors	ENST00000333229	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	0.260	A	A	40587221	C	A	40587221	4	1	34	1	0	0	0	0	0	1	0	0	1529	835	29	3	3518	3	BRWD1	21	40587221	Nonsense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	2984245	40587221	7542674	376	8349											
ARVCF	421	genome.wustl.edu	37	chr22	19966574	19966574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgatgaccatcttcagggGctcataggatgacaggttcc	11	10	11	9	0	3	3	2	3	1	0	4	4	4	4	2	4	0	2	2	4	2	3			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr22:19966574G>T	ENST00000263207.3	-	7	1717	c.1426C>A	c.(1426-1428)Ccc>Acc	p.P476T	ARVCF_ENST00000401994.1_Missense_Mutation_p.P413T|ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406522.1_Missense_Mutation_p.P413T|ARVCF_ENST00000406259.1_Missense_Mutation_p.P476T|ARVCF_ENST00000344269.3_Missense_Mutation_p.P413T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	476					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ATCTTCAGGGGCTCATAGGAT	0.607																																																	0													141	105	117					22																	19966574		2202	4300	6502	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1426C>A	22.37:g.19966574G>T	ENSP00000263207:p.Pro476Thr		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P476T	ENST00000263207.3	37	c.1426	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543574	0.86022	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.56	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.39898	1.24	0.80722	D	1	P	0.51537	0.946	P	0.57101	0.813	T	0.50988	-0.8762	9	.	.	.	-18.9937	17.9007	0.88902	0.0:0.0:1.0:0.0	.	476	O00192	ARVC_HUMAN	T	476;413;413;413;476	ENSP00000263207:P476T;ENSP00000342042:P413T;ENSP00000384341:P413T;ENSP00000384732:P413T;ENSP00000385444:P476T	.	P	-	1	0	ARVCF	18346574	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.407000	0.59754	2.541000	0.85698	0.655000	0.94253	CCC	ARVCF	-	superfamily_ARM-type_fold,pfscan_Armadillo	ENSG00000099889		0.607	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0	54	0	G	NM_001670		19966574	-1	tier1	-	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	19966574	G	T	19966574	3	4	34	1	0	0	0	0	1	0	0	0	1004	1203	42	3	1514	3	ARVCF	22	19966574	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		19966574	31337992	377	8350											
DEPDC5	9681	genome.wustl.edu	37	chr22	32241198	32241198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatcgcattcgcaggcGgcatcgctcggatcgcatga	8	9	12	12	6	0	2	0	2	0	0	5	3	0	3	0	3	0	5	0	3	1	2	rs201245740		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chr22:32241198G>T	ENST00000382112.3	+	29	3039	c.2969G>T	c.(2968-2970)cGg>cTg	p.R990L	DEPDC5_ENST00000400248.2_Missense_Mutation_p.R990L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R990L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R999L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R921L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R921L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R999L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R999L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	999					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCGCAGGCGGCATCGCTCG	0.607																																																	0													46	51	49					22																	32241198		2133	4243	6376	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2969G>T	22.37:g.32241198G>T	ENSP00000371546:p.Arg990Leu		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R999L	ENST00000382112.3	37	c.2996	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563617	0.86335	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.33216	1.46;1.89;1.89;1.87;1.42;1.88;1.87;1.89	5.27	4.25	0.50352	.	0.062112	0.64402	D	0.000003	T	0.40767	0.1130	L	0.29908	0.895	0.80722	D	1	D;D;D;B;D;D	0.71674	0.998;0.998;0.998;0.068;0.998;0.997	D;D;D;B;D;D	0.85130	0.997;0.992;0.994;0.03;0.991;0.987	T	0.10941	-1.0608	10	0.27082	T	0.32	.	12.9601	0.58453	0.0779:0.0:0.9221:0.0	.	320;999;921;999;990;990	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	L	921;999;990;921;999;921;990;999;990	ENSP00000440210:R921L;ENSP00000266091:R999L;ENSP00000383108:R990L;ENSP00000383105:R999L;ENSP00000371539:R921L;ENSP00000371546:R990L;ENSP00000371545:R999L;ENSP00000383107:R990L	ENSP00000266091:R999L	R	+	2	0	DEPDC5	30571198	1.000000	0.71417	0.982000	0.44146	0.894000	0.52154	7.172000	0.77604	1.248000	0.43934	0.558000	0.71614	CGG	DEPDC5	-	NULL	ENSG00000100150		0.607	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1		0	67	0	G	NM_014662		32241198	1			no_errors	ENST00000266091	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	32241198	G	T	32241198	3	4	34	1	0	0	0	0	1	0	0	0	4456	1116	39	2	3101	2	DEPDC5	22	32241198	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	12274624	32241198	19063368	378	8351											
DMD	1756	genome.wustl.edu	37	chrX	32486681	32486681	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaccagctgggaggaGagcttcttccagcgtccctc	7	9	11	14	1	2	1	1	0	1	1	5	3	4	2	3	2	5	3	3	2	1	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:32486681G>T	ENST00000357033.4	-	23	3302	c.3096C>A	c.(3094-3096)ctC>ctA	p.L1032L	DMD_ENST00000378677.2_Silent_p.L1028L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1032					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTGGGAGGAGAGCTTCTTCC	0.408																																																	0													69	61	64					X																	32486681		2202	4300	6502	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3096C>A	X.37:g.32486681G>T			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L1032	ENST00000357033.4	37	c.3096	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	10	0	G	NM_004006		32486681	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	80.00	2	8	SNP	0.001	T	T	32486681	G	T	32486681	2	4	34	1	0	0	0	0	0	0	0	1	4594	929	33	3		3	DMD	23	32486681	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09		32486681	122783879	379	8352											
FAM47C	442444	genome.wustl.edu	37	chrX	37027451	37027451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctccgcccagagccttCtgagactggagtgtcccatc	7	10	9	15	1	3	2	1	1	2	2	6	4	4	3	4	1	1	0	4	1	0	1			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:37027451C>A	ENST00000358047.3	+	1	1020	c.968C>A	c.(967-969)tCt>tAt	p.S323Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	323								p.S323F(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGAGCCTTCTGAGACTGGA	0.612																																																	2	Substitution - Missense(2)	lung(2)											89	80	83					X																	37027451		2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.968C>A	X.37:g.37027451C>A	ENSP00000367913:p.Ser323Tyr		Q6ZU46	Missense_Mutation	SNP	NULL	p.S323Y	ENST00000358047.3	37	c.968	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	10.70	1.422895	0.25639	.	.	ENSG00000198173	ENST00000358047	T	0.14266	2.52	0.951	0.951	0.19579	.	.	.	.	.	T	0.17619	0.0423	L	0.34521	1.04	0.19945	N	0.999947	D	0.57571	0.98	P	0.55713	0.782	T	0.13495	-1.0507	9	0.72032	D	0.01	.	7.6353	0.28264	0.0:0.9999:0.0:1.0E-4	.	323	Q5HY64	FA47C_HUMAN	Y	323	ENSP00000367913:S323Y	ENSP00000367913:S323Y	S	+	2	0	FAM47C	36937372	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	0.284000	0.18864	0.181000	0.19994	0.183000	0.17082	TCT	FAM47C	-	NULL	ENSG00000198173		0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0	198	0	C	NM_001013736		37027451	1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	78.12	14	50	SNP	0.994	A	A	37027451	C	A	37027451	3	1	34	1	0	0	0	0	1	0	0	0	5593	913	32	3	970	3	FAM47C	23	37027451	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	4540770	37027451	118243109	380	8353											
RGAG4	340526	genome.wustl.edu	37	chrX	71349781	71349781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacttggcgttgtcctaaaCgacctgtgcggcgaatcagt	9	10	12	10	4	1	0	1	0	0	0	2	3	2	0	2	2	3	1	2	2	4	3	rs373524278		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:71349781C>T	ENST00000545866.1	-	1	1977	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R537H	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	537										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGTCCTAAACGACCTGTGCG	0.587																																																	0								C	,HIS/ARG	4,3308		0,4,1367,570	46	49	48		,1610	3.2	0.3	X		48	0,6455		0,0,2335,1785	no	intron,missense	RGAG4,NHSL2	NM_001013627.2,NM_001024455.3	,29	0,4,3702,2355	TT,TC,CC,C		0.0,0.1208,0.041	,probably-damaging	,537/570	71349781	4,9763	1941	4120	6061	SO:0001583	missense	0			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1610G>A	X.37:g.71349781C>T	ENSP00000441366:p.Arg537His		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.R537H	ENST00000545866.1	37	c.1610	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	C	8.948	0.967446	0.18659	0.001208	0.0	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.17213	2.29;2.29	4.11	3.25	0.37280	.	.	.	.	.	T	0.08179	0.0204	N	0.19112	0.55	0.09310	N	0.999999	P	0.47106	0.89	B	0.33568	0.166	T	0.18335	-1.0340	8	.	.	.	-4.5822	6.6381	0.22895	0.0:0.8701:0.0:0.1299	.	537	Q5HYW3	RGAG4_HUMAN	H	537	ENSP00000441366:R537H;ENSP00000418667:R537H	.	R	-	2	0	RGAG4	71266506	0.874000	0.30092	0.303000	0.25071	0.041000	0.13682	0.315000	0.19451	1.085000	0.41206	0.513000	0.50165	CGT	RGAG4	-	NULL	ENSG00000242732		0.587	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	-	0	37	0	C	NM_001024455		71349781	-1	tier1	-	no_errors	ENST00000479991	ensembl	human	known	74_37	missense	78.26	5	18	SNP	0.237	T	T	71349781	C	T	71349781	3	4	34	1	0	0	0	0	1	0	0	0	13320	536	19	1	103	1	RGAG4	23	71349781	Missense_Mutation	SNP	C	TCGA-JY-A6F8-01A-11D-A33E-09	34322330	71349781	83920779	381	8354											
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177777	89177777	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaagggctgccgagctGgagctagagaagaagcaaga	15	4	15	7	1	0	3	0	0	0	3	0	6	0	4	1	2	5	5	1	2	6	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:89177777G>T	ENST00000561129.2	+	1	823	c.693G>T	c.(691-693)ctG>ctT	p.L231L	TGIF2LX_ENST00000283891.5_Silent_p.L231L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTGCCGAGCTGGAGCTAGAGA	0.498																																																	0													41	44	43					X																	89177777		2195	4276	6471	SO:0001819	synonymous_variant	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.693G>T	X.37:g.89177777G>T			Q5JRM9|Q8TD48	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L231	ENST00000561129.2	37	c.693	CCDS14459.1	X																																																																																			TGIF2LX	-	NULL	ENSG00000153779		0.498	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	-	0	51	0	G	NM_138960		89177777	1	tier1	-	no_errors	ENST00000283891	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.304	T	T	89177777	G	T	89177777	2	4	34	1	0	0	0	0	0	0	0	1	15874	1335	47	3		3	TGIF2LX	23	89177777	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	17827996	89177777	66092783	382	8355											
FRMD7	90167	genome.wustl.edu	37	chrX	131261854	131261854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaatcatccaaaaactGcacttttaaatgtagcattc	14	12	6	9	0	1	0	1	0	0	0	3	1	2	1	1	1	3	3	1	1	6	4			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:131261854G>C	ENST00000298542.4	-	1	194	c.19C>G	c.(19-21)Cag>Gag	p.Q7E	FRMD7_ENST00000464296.1_Missense_Mutation_p.Q7E	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	7	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCAAAAACTGCACTTTTAAA	0.413																																																	0													99	92	94					X																	131261854		2203	4300	6503	SO:0001583	missense	0			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"nystagmus 1, congenital"	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.19C>G	X.37:g.131261854G>C	ENSP00000298542:p.Gln7Glu		C0LLJ3|Q5JX99	Missense_Mutation	SNP	pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain	p.Q7E	ENST00000298542.4	37	c.19	CCDS35397.1	X	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911055	0.33721	.	.	ENSG00000165694	ENST00000298542;ENST00000464296	T;T	0.75938	-0.98;-0.98	5.43	5.43	0.79202	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.507092	0.20977	N	0.082282	T	0.82222	0.4990	M	0.62723	1.935	0.42590	D	0.993241	P;B	0.52577	0.954;0.024	D;B	0.67900	0.954;0.037	T	0.78669	-0.2114	10	0.20519	T	0.43	.	13.5629	0.61799	0.0:0.0:1.0:0.0	.	7;7	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	E	7	ENSP00000298542:Q7E;ENSP00000417996:Q7E	ENSP00000298542:Q7E	Q	-	1	0	FRMD7	131089535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.305000	0.65750	2.267000	0.75376	0.600000	0.82982	CAG	FRMD7	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000165694		0.413	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD7	HGNC	protein_coding	OTTHUMT00000355031.1	-	0	10	0	G	NM_194277		131261854	-1	tier1	-	no_errors	ENST00000298542	ensembl	human	known	74_37	missense	94.12	1	16	SNP	1.000	C	C	131261854	G	C	131261854	3	2	34	1	0	0	0	0	1	0	0	0	6079	1328	46	5	2173	5	FRMD7	23	131261854	Missense_Mutation	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	42084077	131261854	24008706	383	8356											
FHL1	2273	genome.wustl.edu	37	chrX	135288566	135288566	+	5'UTR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtctgcttgcccccgcagGtccctccagctacaaggtgg	5	9	11	16	1	1	0	0	0	1	0	3	0	3	0	4	3	4	3	4	3	2	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:135288566G>C	ENST00000345434.3	+	0	56				FHL1_ENST00000370676.3_Splice_Site_p.G8A|FHL1_ENST00000394153.2_5'UTR|FHL1_ENST00000394155.2_5'UTR|FHL1_ENST00000543669.1_5'UTR|FHL1_ENST00000535737.1_5'UTR|FHL1_ENST00000539015.1_Splice_Site_p.G21A|FHL1_ENST00000370690.3_5'UTR|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370683.1_Splice_Site_p.G8A			Q13642	FHL1_HUMAN	four and a half LIM domains 1						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCCCCGCAGGTCCCTCCAGC	0.587																																																	0													99	94	96					X																	135288566		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"Four-and-a-half LIM domains 1", "LIM protein SLIMMER"	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.-26G>C	X.37:g.135288566G>C			B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G21A	ENST00000345434.3	37	c.62	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.258728	0.95368	.	.	ENSG00000022267	ENST00000456218;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704	T;T;T	0.63580	-0.05;0.03;0.01	5.73	5.73	0.89815	.	.	.	.	.	T	0.66046	0.2750	L	0.39898	1.24	0.80722	D	1	P;D	0.62365	0.937;0.991	P;P	0.51016	0.471;0.656	T	0.69720	-0.5069	9	0.87932	D	0	.	18.84	0.92180	0.0:0.0:1.0:0.0	.	21;8	B7Z793;B7Z5T4	.;.	A	32;21;8;8;8	ENSP00000437673:G21A;ENSP00000359717:G8A;ENSP00000359710:G8A	ENSP00000359710:G8A	G	+	2	0	FHL1	135116232	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.309000	0.78937	2.396000	0.81511	0.600000	0.82982	GGT	FHL1	-	NULL	ENSG00000022267		0.587	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	-	0	37	0	G	NM_001449		135288566	1	tier1	-	no_errors	ENST00000539015	ensembl	human	known	74_37	missense	100.00	0	14	SNP	1.000	C	C	135288566	G	C	135288566	1	2	34	0	1	0	0	0	0	0	0	0	5900	1275	44	5		5	FHL1	23	135288566	5'UTR	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	4026712	135288566	19981994	384	8357											
MECP2	4204	genome.wustl.edu	37	chrX	153295922	153295922	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgctctccctcccctcGgtgtttgtacttttctgcgg	1	17	9	14	3	2	0	0	0	2	0	5	0	3	0	3	2	3	3	3	2	1	5	rs267608625|rs61753979		TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:153295922G>T	ENST00000303391.6	-	4	1606	c.1357C>A	c.(1357-1359)Cga>Aga	p.R453R	MECP2_ENST00000453960.2_Silent_p.R465R|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	453			R -> Q (in MRXS13). {ECO:0000269|PubMed:11309367}.		adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCCCTCGGTGTTTGTAC	0.622																																																	0			GRCh37	CM023420	MECP2	M	rs61753979						242	216	225					X																	153295922		2203	4300	6503	SO:0001819	synonymous_variant	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1357C>A	X.37:g.153295922G>T			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.R453	ENST00000303391.6	37	c.1357	CCDS14741.1	X																																																																																			MECP2	-	pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.622	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1		0	37	0	G	NM_004992		153295922	-1			no_errors	ENST00000303391	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	T	T	153295922	G	T	153295922	2	4	34	1	0	0	0	0	0	0	0	1	9461	1124	39	2		2	MECP2	23	153295922	Silent	SNP	G	TCGA-JY-A6F8-01A-11D-A33E-09	18007356	153295922	1974638	385	8358											
VBP1	7411	genome.wustl.edu	37	chrX	154444770	154444770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccccaagatggcggccgTtaaggacagttgtggcaaag	11	7	13	10	2	0	1	0	0	0	1	1	2	1	2	3	4	0	3	3	4	3	2			TCGA-JY-A6F8-01A-11D-A33E-09	TCGA-JY-A6F8-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	38de0714-1d64-46bd-bc57-3b953a13a4c1	d0f9ae1f-8474-44d5-bed1-101b2c86c33e	g.chrX:154444770T>C	ENST00000286428.5	+	1	128	c.11T>C	c.(10-12)gTt>gCt	p.V4A	VBP1_ENST00000535916.1_Intron	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	4					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)				NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGCGGCCGTTAAGGACAGT	0.652																																																	0													39	29	33					X																	154444770		2133	4145	6278	SO:0001583	missense	0			U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"prefoldin 3"	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.11T>C	X.37:g.154444770T>C	ENSP00000286428:p.Val4Ala		B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,pirsf_Prefoldin_su-3	p.V4A	ENST00000286428.5	37	c.11	CCDS14765.1	X	.	.	.	.	.	.	.	.	.	.	t	0.926	-0.714196	0.03206	.	.	ENSG00000155959	ENST00000286428	T	0.39592	1.07	3.89	1.07	0.20283	.	0.243130	0.39985	N	0.001212	T	0.16599	0.0399	N	0.08118	0	0.19945	N	0.999944	B	0.02656	0.0	B	0.01281	0.0	T	0.27839	-1.0062	10	0.07990	T	0.79	-1.6147	6.902	0.24288	0.0:0.5717:0.3265:0.1018	.	4	P61758	PFD3_HUMAN	A	4	ENSP00000286428:V4A	ENSP00000286428:V4A	V	+	2	0	VBP1	154097964	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.336000	0.19823	-0.000000	0.14550	-0.265000	0.10407	GTT	VBP1	-	NULL	ENSG00000155959		0.652	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VBP1	HGNC	protein_coding	OTTHUMT00000058806.1	-	0	133	0	T			154444770	1	tier1	-	no_errors	ENST00000286428	ensembl	human	known	74_37	missense	28.89	128	52	SNP	0.010	C	C	154444770	T	C	154444770	3	2	34	1	0	0	0	0	1	0	0	0	17185	1725	60	4	13	4	VBP1	23	154444770	Missense_Mutation	SNP	T	TCGA-JY-A6F8-01A-11D-A33E-09	1148848	154444770	825790	386	8359											
PRAMEF6	440561	genome.wustl.edu	37	chr1	13001128	13001128	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggcattcccaaaattttCagcttcttacagcacaggtg	12	11	8	10	0	2	0	1	0	1	0	3	0	3	0	1	2	3	3	1	2	4	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:13001128C>T	ENST00000376189.1	-	3	654	c.555G>A	c.(553-555)ctG>ctA	p.L185L	PRAMEF6_ENST00000415464.2_Silent_p.L185L|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	185					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCAAAATTTTCAGCTTCTTAC	0.458																																																	0													10	17	15					1																	13001128		1002	2193	3195	SO:0001819	synonymous_variant	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.555G>A	1.37:g.13001128C>T			A0AUJ9	Silent	SNP	NULL	p.L185	ENST00000376189.1	37	c.555	CCDS30594.1	1																																																																																			PRAMEF6	-	NULL	ENSG00000232423		0.458	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0	91	0	C	NM_001010889		13001128	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.002	T	T	13001128	C	T	13001128	2	4	35	1	0	0	0	0	0	0	0	1	12480	813	29	3		3	PRAMEF6	1	13001128	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		13001128	236249493	1	8360											
KDM1A	23028	genome.wustl.edu	37	chr1	23408804	23408804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatcatctggaaatgactAtgatttaatggctcagccaa	14	11	9	7	0	3	2	2	2	1	0	3	4	3	4	1	3	1	1	1	3	4	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:23408804A>G	ENST00000356634.3	+	18	2467	c.2318A>G	c.(2317-2319)tAt>tGt	p.Y773C	KDM1A_ENST00000542151.1_Missense_Mutation_p.Y797C|KDM1A_ENST00000400181.4_Missense_Mutation_p.Y797C|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	773	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGAAATGACTATGATTTAATG	0.517																																																	0													87	82	84					1																	23408804		2203	4300	6503	SO:0001583	missense	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2318A>G	1.37:g.23408804A>G	ENSP00000349049:p.Tyr773Cys		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.Y797C	ENST00000356634.3	37	c.2390	CCDS30627.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692304	0.88735	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	D;D;D	0.93547	-3.24;-3.24;-3.24	5.79	5.79	0.91817	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.97334	0.9128	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98194	1.0464	10	0.87932	D	0	-18.0187	15.3188	0.74105	1.0:0.0:0.0:0.0	.	797;773	O60341-2;O60341	.;KDM1A_HUMAN	C	773;797;797	ENSP00000349049:Y773C;ENSP00000383042:Y797C;ENSP00000439072:Y797C	ENSP00000349049:Y773C	Y	+	2	0	KDM1A	23281391	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.212000	0.71576	0.533000	0.62120	TAT	KDM1A	-	pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease	ENSG00000004487		0.517	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	-	0	52	0	A	NM_015013		23408804	1	tier1	-	no_errors	ENST00000542151	ensembl	human	known	74_37	missense	37.29	37	22	SNP	1.000	G	G	23408804	A	G	23408804	3	3	35	1	0	0	0	0	1	0	0	0	8149	449	16	4	2468	4	KDM1A	1	23408804	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	10407676	23408804	225841817	2	8361											
ARID1A	8289	genome.wustl.edu	37	chr1	27088764	27088764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggctcctaccagcagaaCtccatggggagctatggtcc	9	8	12	12	0	0	1	0	0	0	1	3	2	3	2	4	4	4	3	4	4	3	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:27088764C>A	ENST00000324856.7	+	7	2744	c.2373C>A	c.(2371-2373)aaC>aaA	p.N791K	ARID1A_ENST00000374152.2_Missense_Mutation_p.N408K|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Missense_Mutation_p.N791K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	791					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACCAGCAGAACTCCATGGGGA	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													61	64	63					1																	27088764		2203	4300	6503	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2373C>A	1.37:g.27088764C>A	ENSP00000320485:p.Asn791Lys		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.N791K	ENST00000324856.7	37	c.2373	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886591	0.72410	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.19938	2.11;2.11;4.06	5.43	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.80764	0.986;0.994;0.986	T	0.11227	-1.0596	10	0.51188	T	0.08	-13.5573	8.3171	0.32106	0.0:0.7118:0.0:0.2882	.	791;791;445	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	K	791;791;408	ENSP00000320485:N791K;ENSP00000387636:N791K;ENSP00000363267:N408K	ENSP00000320485:N791K	N	+	3	2	ARID1A	26961351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.482000	0.35486	0.866000	0.35629	0.655000	0.94253	AAC	ARID1A	-	NULL	ENSG00000117713		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	71	0	C	NM_139135		27088764	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	missense	41.18	70	49	SNP	1.000	A	A	27088764	C	A	27088764	3	1	35	1	0	0	0	0	1	0	0	0	913	564	20	3	2399	3	ARID1A	1	27088764	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	3679960	27088764	222161857	3	8362											
GNL2	29889	genome.wustl.edu	37	chr1	38034505	38034505	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagaaacttctgatatttGgcaatcttctcatccagtgc	10	15	6	10	0	4	2	1	1	4	1	6	2	5	2	1	1	2	1	1	1	4	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:38034505G>T	ENST00000373062.3	-	13	1913	c.1815C>A	c.(1813-1815)gcC>gcA	p.A605A	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	605					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TCTGATATTTGGCAATCTTCT	0.408																																																	0													236	236	236					1																	38034505		2203	4300	6503	SO:0001819	synonymous_variant	0			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.1815C>A	1.37:g.38034505G>T			Q9BWN7	Silent	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain	p.A605	ENST00000373062.3	37	c.1815	CCDS421.1	1																																																																																			GNL2	-	NULL	ENSG00000134697		0.408	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1		0	80	0	G	NM_013285		38034505	-1			no_errors	ENST00000373062	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.002	T	T	38034505	G	T	38034505	2	4	35	1	0	0	0	0	0	0	0	1	6562	1335	47	3		3	GNL2	1	38034505	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	10945741	38034505	211216116	4	8363											
PDZK1IP1	10158	genome.wustl.edu	37	chr1	47653002	47653002	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcactcacggctcctcctgGcaccagaagtggttgactgc	8	8	11	14	1	1	2	1	1	0	1	3	2	3	2	3	3	2	4	3	3	1	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:47653002G>T	ENST00000294338.2	-	2	287	c.165C>A	c.(163-165)tgC>tgA	p.C55*	PDZK1IP1_ENST00000491793.1_5'Flank|PDZK1IP1_ENST00000371885.1_Nonsense_Mutation_p.C55*	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	55						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)	3						GCTCCTCCTGGCACCAGAAGT	0.617																																																	0													50	44	46					1																	47653002		2203	4299	6502	SO:0001587	stop_gained	0			U21049	CCDS546.1	1p33	2008-02-05			ENSG00000162366	ENSG00000162366			16887	protein-coding gene	gene with protein product		607178				9815914, 8701988, 12754212, 12837682	Standard	NM_005764		Approved	DD96, MAP17, SPAP	uc001cqw.3	Q13113	OTTHUMG00000007852	ENST00000294338.2:c.165C>A	1.37:g.47653002G>T	ENSP00000294338:p.Cys55*		Q6ICT9|Q96EI1	Nonsense_Mutation	SNP	NULL	p.C55*	ENST00000294338.2	37	c.165	CCDS546.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.305024	0.95601	.	.	ENSG00000162366	ENST00000294338;ENST00000371885	.	.	.	4.48	2.59	0.31030	.	0.000000	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.0437	6.7462	0.23462	0.2152:0.0:0.7848:0.0	.	.	.	.	X	55	.	ENSP00000294338:C55X	C	-	3	2	PDZK1IP1	47425589	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.557000	0.23454	0.612000	0.30071	0.563000	0.77884	TGC	PDZK1IP1	-	NULL	ENSG00000162366		0.617	PDZK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1IP1	HGNC	protein_coding	OTTHUMT00000021655.1		0	76	0	G	NM_005764		47653002	-1			no_errors	ENST00000294338	ensembl	human	known	74_37	nonsense	5.00	95	5	SNP	1.000	T	T	47653002	G	T	47653002	4	4	35	1	0	0	0	0	0	1	0	0	11747	1195	42	3	191	3	PDZK1IP1	1	47653002	Nonsense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	9618497	47653002	201597619	5	8364											
COL11A1	1301	genome.wustl.edu	37	chr1	103352542	103352542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catctgcatctgcttgcatgCcttcagtatgtcttctcgtt	5	17	7	12	1	5	0	1	0	4	0	6	0	5	0	1	0	4	5	1	0	1	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:103352542C>A	ENST00000370096.3	-	63	4991	c.4679G>T	c.(4678-4680)gGc>gTc	p.G1560V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G1444V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1521V|COL11A1_ENST00000358392.2_Missense_Mutation_p.G1572V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1560	Nonhelical region (C-terminal).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCTTGCATGCCTTCAGTATG	0.398																																																	0													184	169	174					1																	103352542		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4679G>T	1.37:g.103352542C>A	ENSP00000359114:p.Gly1560Val		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1572V	ENST00000370096.3	37	c.4715	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.291071	0.23564	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.53	2.66	0.31614	.	0.961406	0.08730	N	0.902175	T	0.58018	0.2093	L	0.46157	1.445	0.35741	D	0.818662	B;B;B;B;B	0.17038	0.012;0.02;0.02;0.012;0.02	B;B;B;B;B	0.21360	0.015;0.034;0.034;0.018;0.028	T	0.40194	-0.9576	10	0.15499	T	0.54	.	5.0317	0.14413	0.0:0.4693:0.142:0.3887	.	1444;1521;1572;1560;780	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1560;1572;1521;780;1444	ENSP00000359114:G1560V;ENSP00000351163:G1572V;ENSP00000302551:G1521V;ENSP00000426533:G1444V	ENSP00000302551:G1521V	G	-	2	0	COL11A1	103125130	0.946000	0.32159	0.923000	0.36655	0.968000	0.65278	0.348000	0.20031	0.306000	0.22856	0.313000	0.20887	GGC	COL11A1	-	NULL	ENSG00000060718		0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	78	0	C	NM_080630		103352542	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	40.48	50	34	SNP	0.486	A	A	103352542	C	A	103352542	3	1	35	1	0	0	0	0	1	0	0	0	3674	739	26	3	761	3	COL11A1	1	103352542	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	55699540	103352542	145898079	6	8365											
STXBP3	6814	genome.wustl.edu	37	chr1	109351459	109351459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgatataaagatgctgaAtaaacccaaggataaagtct	18	9	9	5	0	1	3	0	2	1	1	1	5	1	5	1	2	2	1	1	2	9	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:109351459A>G	ENST00000370008.3	+	19	1789	c.1739A>G	c.(1738-1740)aAt>aGt	p.N580S		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	580					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		AAGATGCTGAATAAACCCAAG	0.323																																																	0													141	155	150					1																	109351459		2203	4300	6503	SO:0001583	missense	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1739A>G	1.37:g.109351459A>G	ENSP00000359025:p.Asn580Ser		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.N580S	ENST00000370008.3	37	c.1739	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	A	4.581	0.107862	0.08780	.	.	ENSG00000116266	ENST00000370008	T	0.79352	-1.26	5.08	3.73	0.42828	.	0.196490	0.53938	D	0.000046	T	0.27169	0.0666	N	0.05230	-0.09	0.31468	N	0.668662	B	0.02656	0.0	B	0.01281	0.0	T	0.13872	-1.0493	10	0.02654	T	1	-29.6721	6.7763	0.23621	0.643:0.2679:0.0891:0.0	.	580	O00186	STXB3_HUMAN	S	580	ENSP00000359025:N580S	ENSP00000359025:N580S	N	+	2	0	STXBP3	109152982	0.951000	0.32395	1.000000	0.80357	0.942000	0.58702	0.206000	0.17375	1.913000	0.55393	0.482000	0.46254	AAT	STXBP3	-	superfamily_Sec1-like	ENSG00000116266		0.323	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	-	0	82	0	A	NM_007269		109351459	1	tier1	-	no_errors	ENST00000370008	ensembl	human	known	74_37	missense	36.00	64	36	SNP	0.995	G	G	109351459	A	G	109351459	3	3	35	1	0	0	0	0	1	0	0	0	15401	101	4	4	1813	4	STXBP3	1	109351459	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	5998917	109351459	139899162	7	8366											
FAM40A	85369	genome.wustl.edu	37	chr1	110589335	110589335	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattgcagaggtccaggcaCagatggaggaggaatacctc	12	6	14	9	1	0	2	0	0	0	2	2	6	1	5	2	5	2	2	2	5	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:110589335C>T	ENST00000369795.3	+	13	1472	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*	STRIP1_ENST00000369796.1_Nonsense_Mutation_p.Q389*	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	484					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GGTCCAGGCACAGATGGAGGA	0.577																																																	0													174	172	172					1																	110589335		2203	4300	6503	SO:0001587	stop_gained	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1450C>T	1.37:g.110589335C>T	ENSP00000358810:p.Gln484*		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Nonsense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.Q484*	ENST00000369795.3	37	c.1450	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.507521	0.96386	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	.	.	.	5.83	5.83	0.93111	.	0.277916	0.38381	N	0.001718	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.2584	19.7288	0.96175	0.0:1.0:0.0:0.0	.	.	.	.	X	389;484	.	ENSP00000358810:Q484X	Q	+	1	0	FAM40A	110390858	0.908000	0.30866	0.990000	0.47175	0.865000	0.49528	1.824000	0.39072	2.775000	0.95449	0.650000	0.86243	CAG	STRIP1	-	pfam_DUF3402	ENSG00000143093		0.577	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	-	0	91	0	C	NM_033088		110589335	1	tier1	-	no_errors	ENST00000369795	ensembl	human	known	74_37	nonsense	40.74	80	55	SNP	0.963	T	T	110589335	C	T	110589335	4	4	35	1	0	0	0	0	0	1	0	0	5582	479	17	3	1500	3	FAM40A	1	110589335	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	1237876	110589335	138661286	8	8367											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576363	158576363	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaccagcaatgtcttcatTatcatagccatcaggctgga	11	11	8	11	0	4	1	3	1	1	0	4	2	4	2	2	2	2	2	2	2	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:158576363T>A	ENST00000361284.1	+	1	135	c.135T>A	c.(133-135)atT>atA	p.I45I		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATGTCTTCATTATCATAGCCA	0.498																																																	0													239	227	231					1																	158576363		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.135T>A	1.37:g.158576363T>A			Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I45	ENST00000361284.1	37	c.135	CCDS30901.1	1																																																																																			OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198967		0.498	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	42	0	T	NM_001004478		158576363	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	31.25	33	15	SNP	0.398	A	A	158576363	T	A	158576363	2	1	35	1	0	0	0	0	0	0	0	1	10962	1742	61	5		5	OR10Z1	1	158576363	Silent	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	47987028	158576363	90674258	9	8368											
DARC	2532	genome.wustl.edu	37	chr1	159176230	159176231	+	Missense_Mutation	DNP	GC	GC	AA																															tcatctggacacccttggaaGcaaatcctagttctcttccc																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:159176230_159176231GC>AA	ENST00000368122.2	+	2	1680_1681	c.1001_1002GC>AA	c.(1000-1002)aGC>aAA	p.S334K	DARC_ENST00000368121.2_Missense_Mutation_p.S336K|DARC_ENST00000537147.1_Missense_Mutation_p.S334K|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		334					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					ACCCTTGGAAGCAAATCCTAGT	0.535																																																	0																																										SO:0001583	missense	0																														Exception_encountered	1.37:g.159176230_159176231delinsAA	ENSP00000357104:p.Ser334Lys		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	prints_Duffy_chemokine_rcpt	p.S336N|p.S336R	ENST00000368122.2	37	c.1007|c.1008	CCDS1183.1	1																																																																																			DARC	-	NULL	ENSG00000213088		0.535	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	HGNC	protein_coding	OTTHUMT00000090338.2	-	0	46	0	G|C			159176230|159176231	1	tier1	-	no_errors	ENST00000368121	ensembl	human	known	74_37	missense	25.00|25.64	60|58	20	SNP	0.130|0.305	A	AA	159176231	GC	AA	159176230	3	1	35	1	0	0	0	0	1	0	0	0	4249	971	34	3	1034	3	DARC	1	159176230	Missense_Mutation	DNP	GC	TCGA-JY-A6FA-01A-11D-A33E-09	599867	159176230	90074391	10	8369											
SFT2D2	375035	genome.wustl.edu	37	chr1	168200751	168200751	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttcaattttaGgttgttgaggcatcttcatt	6	25	6	4	0	3	1	2	1	1	0	3	1	3	1	0	2	0	3	0	2	2	12			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:168200751G>T	ENST00000271375.4	+	2	135		c.e2-1		SFT2D2_ENST00000367825.3_Splice_Site|SFT2D2_ENST00000367829.1_Splice_Site|SFT2D2_ENST00000471981.1_Splice_Site	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					TTCAATTTTAGGTTGTTGAGG	0.348																																																	0													151	149	149					1																	168200751		2203	4300	6503	SO:0001630	splice_region_variant	0			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.64-1G>T	1.37:g.168200751G>T				Splice_Site	SNP	-	e2-1	ENST00000271375.4	37	c.64-1	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414319	0.62511	.	.	ENSG00000213064	ENST00000367829;ENST00000271375;ENST00000367825	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1722	0.81825	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SFT2D2	166467375	1.000000	0.71417	0.910000	0.35882	0.875000	0.50365	5.574000	0.67424	2.606000	0.88127	0.650000	0.86243	.	SFT2D2	-	-	ENSG00000213064		0.348	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFT2D2	HGNC	protein_coding	OTTHUMT00000083827.2	-	0	41	0	G	NM_199344	Intron	168200751	1	tier1	-	no_errors	ENST00000271375	ensembl	human	known	74_37	splice_site	8.00	46	4	SNP	1.000	T	T	168200751	G	T	168200751	5	4	35	1	0	0	0	0	0	0	1	0	14231	1014	35	3	69	3	SFT2D2	1	168200751	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	9024521	168200751	81049870	11	8370											
TNN	63923	genome.wustl.edu	37	chr1	175096207	175096207	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgacttaccagttcccaGatggcacagttaaggtacgg	10	11	10	10	1	1	2	0	1	1	1	2	2	2	2	2	3	2	4	2	3	3	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:175096207G>C	ENST00000239462.4	+	13	3144	c.3031G>C	c.(3031-3033)Gat>Cat	p.D1011H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1011	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCAGTTCCCAGATGGCACAGT	0.517																																																	0													185	170	175					1																	175096207		2203	4300	6503	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3031G>C	1.37:g.175096207G>C	ENSP00000239462:p.Asp1011His		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.D1011H	ENST00000239462.4	37	c.3031	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956862	0.34565	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.59364	0.27	5.14	3.12	0.35913	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.201369	0.50627	D	0.000101	T	0.69504	0.3118	M	0.74467	2.265	0.48395	D	0.999645	P	0.50528	0.936	D	0.66351	0.943	T	0.67369	-0.5688	10	0.66056	D	0.02	.	5.9678	0.19334	0.4344:0.0:0.5656:0.0	.	1011	Q9UQP3	TENN_HUMAN	H	1011;834	ENSP00000239462:D1011H	ENSP00000239462:D1011H	D	+	1	0	TNN	173362830	1.000000	0.71417	0.587000	0.28692	0.112000	0.19704	3.758000	0.55220	0.410000	0.25675	0.563000	0.77884	GAT	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	86	0	G	XM_040527		175096207	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	missense	33.33	54	28	SNP	0.969	C	C	175096207	G	C	175096207	3	2	35	1	0	0	0	0	1	0	0	0	16370	942	33	5	3077	5	TNN	1	175096207	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	6895456	175096207	74154414	12	8371											
KIF14	9928	genome.wustl.edu	37	chr1	200583511	200583511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcttggaattattcctgGttcttcactaaatcccatca	12	15	4	10	0	4	0	2	0	2	0	6	1	6	1	2	2	0	1	2	2	5	6	rs373701140		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:200583511G>T	ENST00000367350.4	-	4	1828	c.1390C>A	c.(1390-1392)Cca>Aca	p.P464T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	464	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTATTCCTGGTTCTTCACTA	0.333																																																	0								G	THR/PRO	0,4406		0,0,2203	67	70	69		1390	3.7	1	1		69	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF14	NM_014875.2	38	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	464/1649	200583511	1,13005	2203	4300	6503	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1390C>A	1.37:g.200583511G>T	ENSP00000356319:p.Pro464Thr		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P464T	ENST00000367350.4	37	c.1390	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877636	0.33162	0.0	1.16E-4	ENSG00000118193	ENST00000367350	T	0.75154	-0.91	5.72	3.71	0.42584	Kinesin, motor domain (4);	0.654387	0.15572	N	0.255365	T	0.75258	0.3825	M	0.76328	2.33	0.29116	N	0.880524	B	0.28258	0.205	B	0.32022	0.139	T	0.68224	-0.5465	10	0.25106	T	0.35	.	16.0151	0.80430	0.0:0.2537:0.7463:0.0	.	464	Q15058	KIF14_HUMAN	T	464	ENSP00000356319:P464T	ENSP00000356319:P464T	P	-	1	0	KIF14	198850134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.774000	0.38573	1.353000	0.45828	0.650000	0.86243	CCA	KIF14	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000118193		0.333	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	-	0	46	0	G	NM_014875		200583511	-1	tier1	-	no_errors	ENST00000367350	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.989	T	T	200583511	G	T	200583511	3	4	35	1	0	0	0	0	1	0	0	0	8303	1261	44	3	3664	3	KIF14	1	200583511	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	25487304	200583511	48667110	13	8372											
RASSF5	83593	genome.wustl.edu	37	chr1	206760161	206760162	+	Frame_Shift_Ins	INS	-	-	A																															ccctctcgcctcacagtgggINSatgccttctccatccctgaa																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:206760161_206760162insA	ENST00000355294.4	+	6	1165_1166	c.1108_1109insA	c.(1108-1110)gatfs	p.D370fs	RASSF5_ENST00000304534.8_Frame_Shift_Ins_p.D217fs|RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_Frame_Shift_Ins_p.C332fs|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	370	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein localization to nucleus (GO:1900180)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTCACAGTGGGATGCCTTCTCC	0.48																																					GBM(162;656 1984 11916 22872 31529)												0																																										SO:0001589	frameshift_variant	0			BC004270	CCDS1463.1, CCDS1464.1, CCDS30998.1	1q31	2014-04-10	2008-02-22		ENSG00000136653	ENSG00000266094			17609	protein-coding gene	gene with protein product		607020				11978988, 11965544	Standard	NM_182663		Approved	Maxp1, NORE1, RAPL	uc001hed.3	Q8WWW0	OTTHUMG00000184616	ENST00000355294.4:c.1109dupA	1.37:g.206760162_206760162dupA	ENSP00000347443:p.Asp370fs		A8K1E6|Q5SY32|Q8WWV9|Q8WXF4|Q9BT99	Frame_Shift_Ins	INS	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.D370fs	ENST00000355294.4	37	c.1108_1109	CCDS30998.1	1																																																																																			RASSF5	-	pfscan_SARAH_dom	ENSG00000136653		0.48	RASSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF5	HGNC	protein_coding	OTTHUMT00000088469.1		0	38	0	-	NM_031437		206760162	1	tier1		no_errors	ENST00000355294	ensembl	human	known	74_37	frame_shift_ins	27.91	31	12	INS	1.000:0.999	A	A	206760162	-	A	206760161	7	5	35	1	0	1	1	0	0	0	0	0	13134	1174	41	0	1254	0	RASSF5	1	206760161	Frame_Shift_Ins	INS	-	TCGA-JY-A6FA-01A-11D-A33E-09	6176650	206760161	42490460	14	8373											
IL10	3586	genome.wustl.edu	37	chr1	206943229	206943229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcttgttttcacagggaAgaaatcgatgctgtggaaga	11	12	12	6	1	2	2	1	0	1	2	3	5	2	4	0	2	2	3	0	2	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:206943229A>G	ENST00000423557.1	-	4	447	c.389T>C	c.(388-390)cTt>cCt	p.L130P	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	130					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTCACAGGGAAGAAATCGATG	0.507																																																	0													130	99	110					1																	206943229		2203	4300	6503	SO:0001583	missense	0			M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"Interleukins and interleukin receptors"	5962	protein-coding gene	gene with protein product	"cytokine synthesis inhibitory factor", "T-cell growth inhibitory factor"	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.389T>C	1.37:g.206943229A>G	ENSP00000412237:p.Leu130Pro			Missense_Mutation	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10	p.L130P	ENST00000423557.1	37	c.389	CCDS1467.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141109	0.77775	.	.	ENSG00000136634	ENST00000423557	T	0.73363	-0.74	6.08	6.08	0.98989	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.225300	0.46442	D	0.000292	D	0.88168	0.6364	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.90216	0.4268	10	0.87932	D	0	-15.8204	13.0356	0.58870	1.0:0.0:0.0:0.0	.	130	P22301	IL10_HUMAN	P	130	ENSP00000412237:L130P	ENSP00000412237:L130P	L	-	2	0	IL10	205009852	0.978000	0.34361	0.962000	0.40283	0.998000	0.95712	4.855000	0.62925	2.333000	0.79357	0.533000	0.62120	CTT	IL10	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-10	ENSG00000136634		0.507	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10	HGNC	protein_coding	OTTHUMT00000088564.3	-	0	43	0	A	NM_000572		206943229	-1	tier1	-	no_errors	ENST00000423557	ensembl	human	known	74_37	missense	59.68	25	37	SNP	0.920	G	G	206943229	A	G	206943229	3	3	35	1	0	0	0	0	1	0	0	0	7646	72	3	4	155	4	IL10	1	206943229	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	183068	206943229	42307392	15	8374											
USH2A	7399	genome.wustl.edu	37	chr1	216073502	216073502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccgaaacatatactctgtGtacggttggagatcactcac	13	10	8	10	2	3	1	2	0	1	1	3	3	3	1	1	2	4	2	1	2	5	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:216073502G>A	ENST00000307340.3	-	40	7895	c.7509C>T	c.(7507-7509)taC>taT	p.Y2503Y	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Silent_p.Y2503Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2503	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TATACTCTGTGTACGGTTGGA	0.418										HNSCC(13;0.011)																																							0													136	113	121					1																	216073502		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7509C>T	1.37:g.216073502G>A			Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Y2503	ENST00000307340.3	37	c.7509	CCDS31025.1	1																																																																																			USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.418	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	58	0	G	NM_007123		216073502	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.990	A	A	216073502	G	A	216073502	2	1	35	1	0	0	0	0	0	0	0	1	17085	1372	48	3		3	USH2A	1	216073502	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	9130273	216073502	33177119	16	8375											
C1orf65	164127	genome.wustl.edu	37	chr1	223567258	223567258	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagggagactcgcccccGccttgccccggaggagctgg	5	4	15	17	3	0	1	0	0	0	1	1	4	0	3	6	4	2	1	6	4	0	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:223567258G>T	ENST00000366875.3	+	1	544	c.441G>T	c.(439-441)ccG>ccT	p.P147P		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		147	Pro-rich.									breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		ACTCGCCCCCGCCTTGCCCCG	0.687																																																	0													13	16	15					1																	223567258		2191	4296	6487	SO:0001819	synonymous_variant	0																														ENST00000366875.3:c.441G>T	1.37:g.223567258G>T			Q8N746|Q8NA93	Silent	SNP	NULL	p.P147	ENST00000366875.3	37	c.441	CCDS1537.1	1																																																																																			C1orf65	-	NULL	ENSG00000178395		0.687	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1		0	17	0	G			223567258	1			no_errors	ENST00000366875	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.708	T	T	223567258	G	T	223567258	2	4	35	1	0	0	0	0	0	0	0	1	2062	1074	38	2		2	C1orf65	1	223567258	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	7493756	223567258	25683363	17	8376											
ACTN2	88	genome.wustl.edu	37	chr1	236889280	236889280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggtgtcagaggaaaactGctccttatagaaatgtgaac	13	12	10	6	0	1	3	1	1	0	2	2	4	2	4	1	2	3	1	1	2	6	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:236889280G>T	ENST00000366578.4	+	5	662	c.496G>T	c.(496-498)Gct>Tct	p.A166S	ACTN2_ENST00000542672.1_Missense_Mutation_p.A166S|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	166	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGGAAAACTGCTCCTTATAG	0.483																																																	0													136	141	140					1																	236889280		2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.496G>T	1.37:g.236889280G>T	ENSP00000355537:p.Ala166Ser		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A166S	ENST00000366578.4	37	c.496	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.099628	0.94197	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.60672	0.17;0.17	5.68	5.68	0.88126	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.76002	2.32	0.80722	D	1	B;P	0.40332	0.424;0.713	P;D	0.72625	0.748;0.978	T	0.79193	-0.1904	10	0.87932	D	0	.	19.79	0.96453	0.0:0.0:1.0:0.0	.	166;166	B2RCS5;P35609	.;ACTN2_HUMAN	S	166	ENSP00000443495:A166S;ENSP00000355537:A166S	ENSP00000355537:A166S	A	+	1	0	ACTN2	234955903	1.000000	0.71417	0.792000	0.32020	0.890000	0.51754	9.832000	0.99423	2.654000	0.90174	0.655000	0.94253	GCT	ACTN2	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000077522		0.483	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0	43	0	G	NM_001103		236889280	1	tier1	-	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	T	T	236889280	G	T	236889280	3	4	35	1	0	0	0	0	1	0	0	0	205	1319	46	3	514	3	ACTN2	1	236889280	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	13322022	236889280	12361341	18	8377											
NLRP3	114548	genome.wustl.edu	37	chr1	247588309	247588309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttctacagcttcatcCacatgactttccaggagttc	11	12	7	11	0	2	2	1	1	1	1	5	3	4	3	2	1	2	3	2	1	2	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr1:247588309C>A	ENST00000336119.3	+	3	2310	c.1564C>A	c.(1564-1566)Cac>Aac	p.H522N	NLRP3_ENST00000391828.3_Missense_Mutation_p.H522N|NLRP3_ENST00000391827.2_Missense_Mutation_p.H522N|NLRP3_ENST00000348069.2_Missense_Mutation_p.H522N|NLRP3_ENST00000366496.2_Missense_Mutation_p.H522N|NLRP3_ENST00000366497.2_Missense_Mutation_p.H522N|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	522	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGCTTCATCCACATGACTTT	0.507																																																	0													69	63	65					1																	247588309		2203	4300	6503	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1564C>A	1.37:g.247588309C>A	ENSP00000337383:p.His522Asn		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.H522N	ENST00000336119.3	37	c.1564	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128957	0.77549	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.17	4.17	0.49024	NACHT nucleoside triphosphatase (1);	0.000000	0.56097	D	0.000031	D	0.95677	0.8594	H	0.95402	3.665	0.47659	D	0.999481	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.995;1.0;0.998;0.994	D	0.95966	0.8966	10	0.72032	D	0.01	.	12.2773	0.54744	0.0:1.0:0.0:0.0	.	522;522;522;522;522	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	N	522	ENSP00000375704:H522N;ENSP00000355453:H522N;ENSP00000337383:H522N;ENSP00000294752:H522N;ENSP00000355452:H522N;ENSP00000375703:H522N	ENSP00000337383:H522N	H	+	1	0	NLRP3	245654932	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.757000	0.74924	2.612000	0.88384	0.655000	0.94253	CAC	NLRP3	-	pfscan_NACHT_NTPase	ENSG00000162711		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1		0	46	0	C	NM_004895		247588309	1			no_errors	ENST00000336119	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	247588309	C	A	247588309	3	1	35	1	0	0	0	0	1	0	0	0	10517	594	21	3	1574	3	NLRP3	1	247588309	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	10699029	247588309	1662312	19	8378											
CAD	790	genome.wustl.edu	37	chr2	27459359	27459359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctccgtgcccctaatcAtcgatatcaagtgcaccaaa	12	10	5	14	2	3	0	2	0	1	0	5	1	3	0	4	0	2	1	4	0	4	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:27459359A>G	ENST00000403525.1	+	25	4237	c.4093A>G	c.(4093-4095)Atc>Gtc	p.I1365V	CAD_ENST00000264705.4_Missense_Mutation_p.I1428V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCTAATCATCGATATCAA	0.572																																																	0													61	62	62					2																	27459359		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4093A>G	2.37:g.27459359A>G	ENSP00000384510:p.Ile1365Val		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.I1428V	ENST00000403525.1	37	c.4282		2	.	.	.	.	.	.	.	.	.	.	A	17.92	3.506440	0.64410	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.85629	-2.01;-2.01	5.03	5.03	0.67393	Methylglyoxal synthase-like domain (3);	0.045424	0.85682	D	0.000000	T	0.81103	0.4753	L	0.36672	1.1	0.47441	D	0.999429	B;B	0.25351	0.099;0.124	B;B	0.31442	0.096;0.13	T	0.80042	-0.1548	10	0.72032	D	0.01	-2.0686	13.8621	0.63566	1.0:0.0:0.0:0.0	.	1365;1428	F8VPD4;P27708	.;PYR1_HUMAN	V	1428;1365	ENSP00000264705:I1428V;ENSP00000384510:I1365V	ENSP00000264705:I1428V	I	+	1	0	CAD	27312863	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.472000	0.90407	2.009000	0.58944	0.459000	0.35465	ATC	CAD	-	superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0	26	0	A			27459359	1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	G	G	27459359	A	G	27459359	3	3	35	1	0	0	0	0	1	0	0	0	2572	217	8	4	4384	4	CAD	2	27459359	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09		27459359	215740014	20	8379											
PLB1	151056	genome.wustl.edu	37	chr2	28805347	28805347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtaccaggagaaaaaaGtctactgcccaaggatgatc	15	7	10	9	0	1	2	0	1	1	1	2	4	1	3	2	2	4	2	2	2	6	2	rs377534411	byFrequency	TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:28805347G>T	ENST00000327757.5	+	25	1752	c.1708G>T	c.(1708-1710)Gtc>Ttc	p.V570F	PLB1_ENST00000329020.6_Missense_Mutation_p.V258F|PLB1_ENST00000422425.2_Missense_Mutation_p.V559F	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	570	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GGAGAAAAAAGTCTACTGCCC	0.502																																																	0													66	58	60					2																	28805347		2203	4300	6503	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1708G>T	2.37:g.28805347G>T	ENSP00000330442:p.Val570Phe		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL	p.V559F	ENST00000327757.5	37	c.1675	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.32|15.32	2.798840|2.798840	0.50208|0.50208	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T|T;T;T;T	0.49432|0.15834	0.78|2.67;2.39;2.68;2.69	5.51|5.51	3.68|3.68	0.42216|0.42216	.|Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	.|0.343207	.|0.26991	.|N	.|0.021474	T|T	0.27063|0.27063	0.0663|0.0663	L|L	0.50993|0.50993	1.605|1.605	0.09310|0.09310	N|N	1|1	.|D;D;P;D	.|0.67145	.|0.981;0.996;0.9;0.983	.|P;D;P;D	.|0.65684	.|0.876;0.937;0.673;0.926	T|T	0.07986|0.07986	-1.0744|-1.0744	7|10	0.30854|0.10902	T|T	0.27|0.67	-15.2064|-15.2064	9.6633|9.6633	0.39969|0.39969	0.1678:0.0:0.8322:0.0|0.1678:0.0:0.8322:0.0	.|.	.|559;570;258;570	.|Q6P1J6-3;Q6P1J6-4;Q6P1J6-2;Q6P1J6	.|.;.;.;PLB1_HUMAN	N|F	557|570;559;280;258	ENSP00000384187:K557N|ENSP00000330442:V570F;ENSP00000416440:V559F;ENSP00000392493:V280F;ENSP00000330729:V258F	ENSP00000384187:K557N|ENSP00000330442:V570F	K|V	+|+	3|1	2|0	PLB1|PLB1	28658851|28658851	0.000000|0.000000	0.05858|0.05858	0.004000|0.004000	0.12327|0.12327	0.441000|0.441000	0.31987|0.31987	-0.127000|-0.127000	0.10547|0.10547	1.317000|1.317000	0.45149|0.45149	0.561000|0.561000	0.74099|0.74099	AAG|GTC	PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.502	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2		0	45	0	G			28805347	1			no_errors	ENST00000422425	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.001	T	T	28805347	G	T	28805347	3	4	35	1	0	0	0	0	1	0	0	0	12063	1029	36	3	1839	3	PLB1	2	28805347	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	1345988	28805347	214394026	21	8380											
SLC8A1	6546	genome.wustl.edu	37	chr2	40656143	40656143	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctgcggataatggtaagGgccacagtaccacagttctc	10	9	10	12	1	2	0	0	0	2	0	3	1	2	1	3	3	2	3	3	3	3	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:40656143G>T	ENST00000403092.1	-	2	1311	c.1278C>A	c.(1276-1278)gcC>gcA	p.A426A	SLC8A1_ENST00000408028.2_Silent_p.A426A|SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A|SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000406785.2_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A|SLC8A1_ENST00000542024.1_Silent_p.A426A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	426	Calx-beta 1.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A426A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAATGGTAAGGGCCACAGTAC	0.438																																																	1	Substitution - coding silent(1)	lung(1)											105	88	94					2																	40656143		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1278C>A	2.37:g.40656143G>T			A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.A426	ENST00000403092.1	37	c.1278	CCDS1806.1	2																																																																																			SLC8A1	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex	ENSG00000183023		0.438	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1		0	38	0	G	NM_021097		40656143	-1			no_errors	ENST00000332839	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.998	T	T	40656143	G	T	40656143	2	4	35	1	0	0	0	0	0	0	0	1	14751	1219	43	3		3	SLC8A1	2	40656143	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	11850796	40656143	202543230	22	8381											
FBXO11	80204	genome.wustl.edu	37	chr2	48035283	48035283	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcaatgtattagattCtataggtggagcagagtcat	11	13	12	5	0	2	2	1	0	1	2	2	3	2	3	0	2	3	4	0	2	5	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:48035283C>A	ENST00000403359.3	-	23	2830	c.2758G>T	c.(2758-2760)Gaa>Taa	p.E920*	MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000434523.2_Nonsense_Mutation_p.E344*|FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.E836*|FBXO11_ENST00000316377.4_Nonsense_Mutation_p.E836*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	920					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTATTAGATTCTATAGGTGGA	0.373			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											175	178	177					2																	48035283		2203	4300	6503	SO:0001587	stop_gained	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2758G>T	2.37:g.48035283C>A	ENSP00000384823:p.Glu920*		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.E920*	ENST00000403359.3	37	c.2758	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.857791	0.98528	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.7027	19.9019	0.96988	0.0:1.0:0.0:0.0	.	.	.	.	X	836;920;836;344	.	ENSP00000323822:E836X	E	-	1	0	FBXO11	47888787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.750000	0.85110	2.781000	0.95711	0.650000	0.86243	GAA	FBXO11	-	NULL	ENSG00000138081		0.373	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	-	0	46	0	C	NM_012167, NM_018693, NM_025133		48035283	-1	tier1	-	no_errors	ENST00000403359	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	A	A	48035283	C	A	48035283	4	1	35	1	0	0	0	0	0	1	0	0	5749	922	32	3	29	3	FBXO11	2	48035283	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	7379140	48035283	195164090	23	8382											
MTIF2	4528	genome.wustl.edu	37	chr2	55476622	55476622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttttttcactttctcaGgatcagcctcagctttgtca	6	17	6	12	0	6	0	5	0	2	0	7	1	6	1	1	1	2	2	1	1	0	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:55476622G>T	ENST00000263629.4	-	9	1205	c.890C>A	c.(889-891)cCt>cAt	p.P297H	MTIF2_ENST00000403721.1_Missense_Mutation_p.P297H|MTIF2_ENST00000394600.3_Missense_Mutation_p.P297H	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	297	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CACTTTCTCAGGATCAGCCTC	0.418																																																	0													238	208	218					2																	55476622		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.890C>A	2.37:g.55476622G>T	ENSP00000263629:p.Pro297His		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.P297H	ENST00000263629.4	37	c.890	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915007	0.92178	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.9	5.9	0.94986	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.86879	0.6039	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87741	0.2585	10	0.87932	D	0	-14.9106	20.282	0.98514	0.0:0.0:1.0:0.0	.	297	P46199	IF2M_HUMAN	H	297;297;297;17;297	ENSP00000384481:P297H;ENSP00000263629:P297H;ENSP00000378099:P297H;ENSP00000403492:P17H	ENSP00000263629:P297H	P	-	2	0	MTIF2	55330126	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.476000	0.97823	2.786000	0.95864	0.563000	0.77884	CCT	MTIF2	-	pfam_EF_GTP-bd_dom,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom	ENSG00000085760		0.418	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0	58	0	G	NM_002453		55476622	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	55476622	G	T	55476622	3	4	35	1	0	0	0	0	1	0	0	0	9972	1000	35	3	1325	3	MTIF2	2	55476622	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	7441339	55476622	187722751	24	8383											
EFEMP1	2202	genome.wustl.edu	37	chr2	56097965	56097965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtctgatggcacagaccTatcagatcggatgctcatgt	10	11	11	9	1	3	3	2	1	1	2	4	5	3	4	1	2	1	2	1	2	1	1	rs567386311		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:56097965T>A	ENST00000394555.2	-	10	1645	c.1210A>T	c.(1210-1212)Agg>Tgg	p.R404W	EFEMP1_ENST00000355426.3_Missense_Mutation_p.R404W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R266W|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R404W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	404	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGCACAGACCTATCAGATCGG	0.438																																					GBM(92;934 1319 7714 28760 40110)												0													110	106	107					2																	56097965		2203	4300	6503	SO:0001583	missense	0			U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"Fibulins"	3218	protein-coding gene	gene with protein product	"fibulin 3"	601548	"fibrillin-like", "EGF-containing fibulin-like extracellular matrix protein 1"	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1210A>T	2.37:g.56097965T>A	ENSP00000378058:p.Arg404Trp		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.R404W	ENST00000394555.2	37	c.1210	CCDS1857.1	2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763599	0.69878	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;T;D	0.84660	-1.88;-1.88;-1.36;-1.88	5.65	3.18	0.36537	.	0.000000	0.64402	D	0.000001	D	0.90625	0.7060	M	0.70595	2.14	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.89048	0.3453	10	0.44086	T	0.13	.	12.9478	0.58382	0.0:0.0:0.2546:0.7454	.	266;404	B4DW75;Q12805	.;FBLN3_HUMAN	W	404;404;260;266;404	ENSP00000378058:R404W;ENSP00000378057:R404W;ENSP00000399145:R266W;ENSP00000347596:R404W	ENSP00000347596:R404W	R	-	1	2	EFEMP1	55951469	0.991000	0.36638	0.825000	0.32803	0.911000	0.54048	1.946000	0.40283	0.458000	0.26988	-0.316000	0.08728	AGG	EFEMP1	-	NULL	ENSG00000115380		0.438	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP1	HGNC	protein_coding	OTTHUMT00000251491.2	-	0	40	0	T			56097965	-1	tier1	-	no_errors	ENST00000355426	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.957	A	A	56097965	T	A	56097965	3	1	35	1	0	0	0	0	1	0	0	0	4955	1521	53	5	279	5	EFEMP1	2	56097965	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	621343	56097965	187101408	25	8384											
NCKAP5	344148	genome.wustl.edu	37	chr2	133618158	133618158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaaacactcttgttttCaacttcacacattcctctct	12	15	1	13	0	5	0	3	0	2	0	7	0	6	0	1	0	2	1	1	0	3	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:133618158C>A	ENST00000409261.1	-	11	1087	c.714G>T	c.(712-714)ttG>ttT	p.L238F	NCKAP5_ENST00000405974.3_Missense_Mutation_p.L238F|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L238F|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L238F	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	238								p.L77F(1)|p.L238F(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTTGTTTTCAACTTCACAC	0.393																																																	2	Substitution - Missense(2)	lung(2)											153	141	145					2																	133618158		1917	4118	6035	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.714G>T	2.37:g.133618158C>A	ENSP00000387128:p.Leu238Phe		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.L238F	ENST00000409261.1	37	c.714	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703323	0.88924	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.70399	1.44;-0.48;1.44;-0.48	5.78	5.78	0.91487	.	0.000000	0.25543	U	0.029942	T	0.82130	0.4970	L	0.55481	1.735	0.41098	D	0.985642	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83170	-0.0094	10	0.87932	D	0	.	18.1945	0.89817	0.0:1.0:0.0:0.0	.	238;238	O14513-2;O14513	.;NCKP5_HUMAN	F	238	ENSP00000387128:L238F;ENSP00000386952:L238F;ENSP00000380603:L238F;ENSP00000385692:L238F	ENSP00000380603:L238F	L	-	3	2	NCKAP5	133334628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.562000	0.45914	2.724000	0.93272	0.563000	0.77884	TTG	NCKAP5	-	NULL	ENSG00000176771		0.393	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1		0	50	0	C	NM_207481		133618158	-1			no_errors	ENST00000317721	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	133618158	C	A	133618158	3	1	35	1	0	0	0	0	1	0	0	0	10262	825	29	3	5055	3	NCKAP5	2	133618158	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	77520193	133618158	109581215	26	8385											
ZNF804A	91752	genome.wustl.edu	37	chr2	185803054	185803054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccattatgaactggctgaGgcccttccacaaggaaagat	12	9	10	10	0	0	3	0	2	0	1	1	4	1	4	3	3	2	1	3	3	4	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:185803054G>C	ENST00000302277.6	+	4	3525	c.2931G>C	c.(2929-2931)gaG>gaC	p.E977D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	977							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACTGGCTGAGGCCCTTCCAC	0.403																																																	0													102	97	98					2																	185803054		2203	4300	6503	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2931G>C	2.37:g.185803054G>C	ENSP00000303252:p.Glu977Asp		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E977D	ENST00000302277.6	37	c.2931	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685245	0.29872	.	.	ENSG00000170396	ENST00000302277	T	0.07688	3.17	5.14	1.36	0.22044	.	0.118731	0.37348	N	0.002130	T	0.16854	0.0405	L	0.57536	1.79	0.27750	N	0.944189	D	0.61080	0.989	P	0.59221	0.854	T	0.03221	-1.1059	10	0.48119	T	0.1	-10.1567	8.946	0.35758	0.1797:0.0:0.8203:0.0	.	977	Q7Z570	Z804A_HUMAN	D	977	ENSP00000303252:E977D	ENSP00000303252:E977D	E	+	3	2	ZNF804A	185511299	0.993000	0.37304	0.990000	0.47175	0.463000	0.32649	0.233000	0.17911	-0.032000	0.13758	0.467000	0.42956	GAG	ZNF804A	-	NULL	ENSG00000170396		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	51	0	G	NM_194250		185803054	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	63.83	17	30	SNP	1.000	C	C	185803054	G	C	185803054	3	2	35	1	0	0	0	0	1	0	0	0	18218	991	35	5	2945	5	ZNF804A	2	185803054	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	52184896	185803054	57396319	27	8386											
PLCL1	5334	genome.wustl.edu	37	chr2	198949560	198949560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgaaaatgggctgtcGaagcgttgaactcgatgtaa	12	11	12	6	3	0	2	0	2	0	0	2	4	0	2	0	1	3	4	0	1	5	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:198949560G>T	ENST00000428675.1	+	2	1717	c.1319G>T	c.(1318-1320)cGa>cTa	p.R440L	PLCL1_ENST00000437704.2_Missense_Mutation_p.R342L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	440	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATGGGCTGTCGAAGCGTTGAA	0.408																																																	0													62	60	61					2																	198949560		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1319G>T	2.37:g.198949560G>T	ENSP00000402861:p.Arg440Leu		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R440L	ENST00000428675.1	37	c.1319	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068466	0.76301	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.81415	-1.49;-1.49	5.94	5.94	0.96194	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.53938	D	0.000051	D	0.93871	0.8039	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95042	0.8179	9	.	.	.	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	440;366	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	440;342	ENSP00000402861:R440L;ENSP00000414138:R342L	.	R	+	2	0	PLCL1	198657805	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.855000	0.99526	2.826000	0.97356	0.561000	0.74099	CGA	PLCL1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000115896		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1		0	41	0	G	NM_006226		198949560	1			no_errors	ENST00000428675	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	198949560	G	T	198949560	3	4	35	1	0	0	0	0	1	0	0	0	12078	1058	37	2	1325	2	PLCL1	2	198949560	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	13146506	198949560	44249813	28	8387											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447490	226447490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactcccctgagcctcaaaAggcctcccccttacgacgct	8	8	7	18	2	1	2	1	2	0	0	3	3	3	2	6	1	2	1	6	1	3	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:226447490A>G	ENST00000272907.6	+	4	1770	c.1357A>G	c.(1357-1359)Agg>Ggg	p.R453G	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	453	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAGCCTCAAAAGGCCTCCCCC	0.622																																																	0													43	48	46					2																	226447490		2043	4199	6242	SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1357A>G	2.37:g.226447490A>G	ENSP00000272907:p.Arg453Gly		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.R453G	ENST00000272907.6	37	c.1357	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238846	0.58995	.	.	ENSG00000144460	ENST00000272907	T	0.34275	1.37	5.19	2.74	0.32292	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	L	0.40543	1.245	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.14337	-1.0476	10	0.30078	T	0.28	-28.398	11.9835	0.53133	0.7084:0.2916:0.0:0.0	.	453	Q9P242	K1486_HUMAN	G	453	ENSP00000272907:R453G	ENSP00000272907:R453G	R	+	1	2	KIAA1486	226155734	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	2.398000	0.44486	0.276000	0.22118	0.460000	0.39030	AGG	NYAP2	-	NULL	ENSG00000144460		0.622	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0	68	0	A	NM_020864		226447490	1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.999	G	G	226447490	A	G	226447490	3	3	35	1	0	0	0	0	1	0	0	0	8264	63	3	4	1367	4	KIAA1486	2	226447490	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	27497930	226447490	16751883	29	8388											
GIGYF2	26058	genome.wustl.edu	37	chr2	233671334	233671334	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtggggaagggttccCttttctccaggtccagctcc	8	11	11	11	0	1	0	0	0	1	0	5	1	4	1	4	4	1	2	4	4	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr2:233671334C>A	ENST00000409547.1	+	17	2084	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	GIGYF2_ENST00000409451.3_Silent_p.P612P|GIGYF2_ENST00000452341.2_Silent_p.P422P|GIGYF2_ENST00000373566.3_Silent_p.P613P|GIGYF2_ENST00000409480.1_Silent_p.P613P|GIGYF2_ENST00000373563.4_Silent_p.P591P|GIGYF2_ENST00000409196.3_Silent_p.P585P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	591					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGGGTTCCCTTTTCTCCAG	0.443																																																	0													141	138	139					2																	233671334		2203	4300	6503	SO:0001819	synonymous_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1773C>A	2.37:g.233671334C>A			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Silent	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.P613	ENST00000409547.1	37	c.1839	CCDS33401.1	2																																																																																			GIGYF2	-	superfamily_GYF	ENSG00000204120		0.443	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0	47	0	C	NM_001103146		233671334	1	tier1	-	no_errors	ENST00000373566	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.950	A	A	233671334	C	A	233671334	2	1	35	1	0	0	0	0	0	0	0	1	6404	668	24	3		3	GIGYF2	2	233671334	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	7223844	233671334	9528039	30	8389											
KBTBD5	131377	genome.wustl.edu	37	chr3	42727547	42727547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcctgctcgactgcgCgcgtctcgccgtggctgccc	1	8	13	19	7	1	0	0	0	1	0	4	1	2	0	4	2	3	2	4	2	0	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:42727547C>T	ENST00000287777.4	+	1	537	c.437C>T	c.(436-438)gCg>gTg	p.A146V		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	146	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CTCGACTGCGCGCGTCTCGCC	0.652																																																	0													75	78	77					3																	42727547		2203	4294	6497	SO:0001583	missense	0			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"Kelch-like", "BTB/POZ domain containing"	30372	protein-coding gene	gene with protein product	"sarcosynapsin", "nemaline myopathy type 8"	615340	"kelch repeat and BTB (POZ) domain containing 5", "kelch-like 40 (Drosophila)"	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.437C>T	3.37:g.42727547C>T	ENSP00000287777:p.Ala146Val		Q86SI1|Q96MR2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A146V	ENST00000287777.4	37	c.437	CCDS2703.1	3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890927	0.91889	.	.	ENSG00000157119	ENST00000287777	T	0.69040	-0.37	4.56	4.56	0.56223	BTB/Kelch-associated (2);	0.056407	0.64402	D	0.000001	T	0.52158	0.1717	N	0.17594	0.5	0.50467	D	0.999871	B	0.26483	0.15	B	0.26202	0.067	T	0.49093	-0.8975	10	0.27785	T	0.31	.	17.5196	0.87783	0.0:1.0:0.0:0.0	.	146	Q2TBA0	KBTB5_HUMAN	V	146	ENSP00000287777:A146V	ENSP00000287777:A146V	A	+	2	0	KBTBD5	42702551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.635000	0.83286	2.391000	0.81399	0.655000	0.94253	GCG	KLHL40	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000157119		0.652	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL40	HGNC	protein_coding	OTTHUMT00000256651.1	-	0	30	0	C	NM_152393		42727547	1	tier1	-	no_errors	ENST00000287777	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	T	T	42727547	C	T	42727547	3	4	35	1	0	0	0	0	1	0	0	0	8023	768	27	1	439	1	KBTBD5	3	42727547	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		42727547	155294883	31	8390											
C3orf39	84892	genome.wustl.edu	37	chr3	43121238	43121238	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggatcttgttgaagatGcagcggacccacaccaggta	12	7	13	9	1	1	2	0	1	1	1	1	5	1	5	2	4	2	3	2	4	2	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:43121238G>T	ENST00000344697.2	-	2	2031	c.1686C>A	c.(1684-1686)tgC>tgA	p.C562*	POMGNT2_ENST00000441964.1_Nonsense_Mutation_p.C562*	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	562	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										TGTTGAAGATGCAGCGGACCC	0.582																																																	0													86	71	76					3																	43121238		2203	4300	6503	SO:0001587	stop_gained	0			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"chromosome 3 open reading frame 39", "glycosyltransferase-like domain containing 2"	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.1686C>A	3.37:g.43121238G>T	ENSP00000344125:p.Cys562*		B3KWC3|Q96SY3	Nonsense_Mutation	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.C562*	ENST00000344697.2	37	c.1686	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.157617	0.98103	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	.	.	.	5.57	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-42.2816	13.956	0.64150	0.074:0.0:0.926:0.0	.	.	.	.	X	562	.	ENSP00000344125:C562X	C	-	3	2	C3orf39	43096242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.777000	0.68931	1.320000	0.45209	0.655000	0.94253	TGC	POMGNT2	-	superfamily_Fibronectin_type3	ENSG00000144647		0.582	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT2	HGNC	protein_coding	OTTHUMT00000256643.1		0	26	0	G	NM_032806		43121238	-1			no_errors	ENST00000344697	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	T	T	43121238	G	T	43121238	4	4	35	1	0	0	0	0	0	1	0	0	2236	1311	46	3	60	3	C3orf39	3	43121238	Nonsense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	393691	43121238	154901192	32	8391											
IP6K2	51447	genome.wustl.edu	37	chr3	48726077	48726077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgagcacagggcccaGgagttcacggcgcaggtacc	8	7	13	13	2	2	1	1	1	1	0	2	2	2	2	2	4	2	4	2	4	1	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:48726077G>T	ENST00000328631.5	-	6	1133	c.910C>A	c.(910-912)Ctg>Atg	p.L304M	NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	304					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACAGGGCCCAGGAGTTCACGG	0.547																																																	0													107	95	99					3																	48726077		2203	4300	6503	SO:0001583	missense	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.910C>A	3.37:g.48726077G>T	ENSP00000331103:p.Leu304Met		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	pfam_IPK	p.L304M	ENST00000328631.5	37	c.910	CCDS2777.1	3	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634497	0.67130	.	.	ENSG00000068745	ENST00000328631	T	0.18960	2.18	5.54	4.55	0.56014	.	0.198965	0.45126	D	0.000393	T	0.33818	0.0876	M	0.86097	2.795	0.80722	D	1	P	0.47841	0.901	P	0.51742	0.678	T	0.35025	-0.9805	10	0.56958	D	0.05	-5.5457	2.4427	0.04499	0.1886:0.0:0.5024:0.309	.	304	Q9UHH9	IP6K2_HUMAN	M	304	ENSP00000331103:L304M	ENSP00000331103:L304M	L	-	1	2	IP6K2	48701081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.573000	0.46007	2.615000	0.88500	0.655000	0.94253	CTG	IP6K2	-	pfam_IPK	ENSG00000068745		0.547	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	-	0	74	0	G	NM_016291		48726077	-1	tier1	-	no_errors	ENST00000328631	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	48726077	G	T	48726077	3	4	35	1	0	0	0	0	1	0	0	0	7816	991	35	3	374	3	IP6K2	3	48726077	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5604839	48726077	149296353	33	8392											
DNAH1	25981	genome.wustl.edu	37	chr3	52378535	52378535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcagcagtcttgccaGagaagtgagcctggactatg	10	8	12	11	0	2	2	1	1	1	1	2	4	2	3	3	1	3	2	3	1	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:52378535G>T	ENST00000420323.2	+	9	1577	c.1316G>T	c.(1315-1317)aGa>aTa	p.R439I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	439	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGTCTTGCCAGAGAAGTGAGC	0.577																																																	0													108	112	111					3																	52378535		2073	4203	6276	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1316G>T	3.37:g.52378535G>T	ENSP00000401514:p.Arg439Ile		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.R439I	ENST00000420323.2	37	c.1316	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793407	0.31685	.	.	ENSG00000114841	ENST00000420323	T	0.23552	1.9	5.04	-2.56	0.06268	.	0.664327	0.13652	N	0.372181	T	0.12220	0.0297	N	0.12182	0.205	0.18873	N	0.999986	B;B	0.12013	0.001;0.005	B;B	0.19666	0.003;0.026	T	0.22591	-1.0212	10	0.45353	T	0.12	.	7.6811	0.28513	0.7082:0.0:0.1556:0.1362	.	439;439	C9JXH6;Q9P2D7-3	.;.	I	439	ENSP00000401514:R439I	ENSP00000401514:R439I	R	+	2	0	DNAH1	52353575	0.695000	0.27747	0.115000	0.21578	0.994000	0.84299	0.576000	0.23744	-0.366000	0.08064	-0.150000	0.13652	AGA	DNAH1	-	NULL	ENSG00000114841		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	63	0	G	NM_015512		52378535	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.012	T	T	52378535	G	T	52378535	3	4	35	1	0	0	0	0	1	0	0	0	4611	942	33	3	1346	3	DNAH1	3	52378535	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	3652458	52378535	145643895	34	8393											
CADPS	8618	genome.wustl.edu	37	chr3	62535709	62535709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggacccacaggatgCggtcttgttcatcgtcactg	6	11	12	12	2	3	0	2	0	1	0	4	2	3	2	2	4	1	1	2	4	0	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:62535709C>T	ENST00000383710.4	-	11	2184	c.1835G>A	c.(1834-1836)cGc>cAc	p.R612H	CADPS_ENST00000283269.9_Missense_Mutation_p.R612H|CADPS_ENST00000357948.3_Missense_Mutation_p.R612H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	612	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.R612L(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCACAGGATGCGGTCTTGTTC	0.557																																																	2	Substitution - Missense(2)	lung(2)											164	146	152					3																	62535709		2203	4300	6503	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1835G>A	3.37:g.62535709C>T	ENSP00000373215:p.Arg612His		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R612H	ENST00000383710.4	37	c.1835	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.925806|4.925806	0.92319|0.92319	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000478434|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	.|T;T;T;T	.|0.78126	.|0.62;0.58;0.59;-1.15	4.71|4.71	4.71|4.71	0.59529|0.59529	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87152|0.87152	0.6106|0.6106	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.997;1.0;1.0	.|D;P;D;D	.|0.83275	.|0.977;0.881;0.996;0.989	D|D	0.88162|0.88162	0.2858|0.2858	5|10	.|0.66056	.|D	.|0.02	.|.	18.2011|18.2011	0.89838|0.89838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|612;612;612;612	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	T|H	43|612;612;612;612;107	.|ENSP00000373215:R612H;ENSP00000350632:R612H;ENSP00000283269:R612H;ENSP00000439528:R107H	.|ENSP00000283269:R612H	A|R	-|-	1|2	0|0	CADPS|CADPS	62510749|62510749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.609000|7.609000	0.82925|0.82925	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GCA|CGC	CADPS	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000163618		0.557	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5		0	60	0	C	NM_003716, NM_183393, NM_183394		62535709	-1			no_errors	ENST00000383710	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	62535709	C	T	62535709	3	4	35	1	0	0	0	0	1	0	0	0	2577	768	27	1	2379	1	CADPS	3	62535709	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	10157174	62535709	135486721	35	8394											
IMPG2	50939	genome.wustl.edu	37	chr3	100963357	100963357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtaatcagatctaccttttgCccagaccctgaacctaaacc	12	10	5	14	0	2	3	1	1	1	2	2	3	2	3	5	0	4	1	5	0	5	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:100963357C>T	ENST00000193391.7	-	13	2005	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	606					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CTACCTTTTGCCCAGACCCTG	0.453																																																	0													146	136	140					3																	100963357		2203	4300	6503	SO:0001819	synonymous_variant	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1818G>A	3.37:g.100963357C>T			A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.G606	ENST00000193391.7	37	c.1818	CCDS2940.1	3																																																																																			IMPG2	-	NULL	ENSG00000081148		0.453	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0	37	0	C			100963357	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.356	T	T	100963357	C	T	100963357	2	4	35	1	0	0	0	0	0	0	0	1	7756	726	26	3		3	IMPG2	3	100963357	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	38427648	100963357	97059073	36	8395											
SLITRK3	22865	genome.wustl.edu	37	chr3	164907755	164907755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccaaactagcctctacCtcagagtcagacaacaaggg	14	7	7	13	0	3	2	2	0	1	2	4	2	4	2	3	1	4	0	3	1	5	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:164907755C>A	ENST00000475390.1	-	2	1307	c.864G>T	c.(862-864)gaG>gaT	p.E288D	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E288D			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	288					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAGCCTCTACCTCAGAGTCAG	0.463										HNSCC(40;0.11)																																							0													98	103	101					3																	164907755		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.864G>T	3.37:g.164907755C>A	ENSP00000420091:p.Glu288Asp		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E288D	ENST00000475390.1	37	c.864	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	8.227	0.803833	0.16467	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.44083	0.93;0.93	5.61	3.82	0.43975	.	0.000000	0.34750	N	0.003713	T	0.39064	0.1064	N	0.25245	0.725	0.41065	D	0.9854	D	0.58970	0.984	D	0.65443	0.935	T	0.41431	-0.9509	10	0.02654	T	1	-17.9326	8.5873	0.33666	0.0:0.7097:0.0:0.2903	.	288	O94933	SLIK3_HUMAN	D	288	ENSP00000420091:E288D;ENSP00000241274:E288D	ENSP00000241274:E288D	E	-	3	2	SLITRK3	166390449	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	0.832000	0.27490	0.736000	0.32559	-0.137000	0.14449	GAG	SLITRK3	-	NULL	ENSG00000121871		0.463	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	75	0	C	NM_014926		164907755	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	49.61	65	64	SNP	1.000	A	A	164907755	C	A	164907755	3	1	35	1	0	0	0	0	1	0	0	0	14789	680	24	3	2073	3	SLITRK3	3	164907755	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	63944398	164907755	33114675	37	8396											
NAALADL2	254827	genome.wustl.edu	37	chr3	174814895	174814895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccaaagagcaatcgctGcaacttttgccacgtcttaa	12	10	7	12	2	1	1	0	0	1	1	2	1	1	1	2	0	5	4	2	0	4	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:174814895G>A	ENST00000454872.1	+	2	487	c.359G>A	c.(358-360)tGc>tAc	p.C120Y	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	120						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGCAATCGCTGCAACTTTTGC	0.378																																																	0													95	96	96					3																	174814895		1856	4098	5954	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.359G>A	3.37:g.174814895G>A	ENSP00000404705:p.Cys120Tyr		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.C120Y	ENST00000454872.1	37	c.359	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197161	0.22037	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.31769	1.52;1.48	5.57	4.68	0.58851	.	0.447823	0.21331	N	0.076297	T	0.20981	0.0505	L	0.27053	0.805	0.22968	N	0.998496	P;P	0.47604	0.898;0.498	B;B	0.40165	0.321;0.166	T	0.09015	-1.0694	10	0.52906	T	0.07	-3.6155	9.3398	0.38074	0.0719:0.0:0.7828:0.1453	.	103;120	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	Y	103;120	ENSP00000409858:C103Y;ENSP00000404705:C120Y	ENSP00000409858:C103Y	C	+	2	0	NAALADL2	176297589	1.000000	0.71417	0.777000	0.31699	0.593000	0.36681	3.386000	0.52492	1.415000	0.47037	0.650000	0.86243	TGC	NAALADL2	-	NULL	ENSG00000177694		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	-	0	59	0	G	NM_207015		174814895	1	tier1	-	no_errors	ENST00000454872	ensembl	human	known	74_37	missense	11.29	110	14	SNP	0.913	A	A	174814895	G	A	174814895	3	1	35	1	0	0	0	0	1	0	0	0	10168	1319	46	3	365	3	NAALADL2	3	174814895	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	9907140	174814895	23207535	38	8397											
CCDC39	339829	genome.wustl.edu	37	chr3	180334633	180334633	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtttggtcactctttctAattttggcttctgctcctcc	3	19	6	13	0	4	0	1	0	3	0	6	0	6	0	3	2	1	3	3	2	1	6	rs377454931		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:180334633A>C	ENST00000442201.2	-	17	2506	c.2387T>G	c.(2386-2388)tTa>tGa	p.L796*	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	796					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CACTCTTTCTAATTTTGGCTT	0.308																																																	0													162	145	150					3																	180334633		1814	4067	5881	SO:0001587	stop_gained	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2387T>G	3.37:g.180334633A>C	ENSP00000405708:p.Leu796*		B4E2H1	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L796*	ENST00000442201.2	37	c.2387	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	A	40	8.411174	0.98799	.	.	ENSG00000145075	ENST00000442201	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7977	0.69889	1.0:0.0:0.0:0.0	.	.	.	.	X	796	.	ENSP00000405708:L796X	L	-	2	0	CCDC39	181817327	0.958000	0.32768	0.764000	0.31436	0.869000	0.49853	8.029000	0.88807	2.077000	0.62373	0.377000	0.23210	TTA	CCDC39	-	NULL	ENSG00000145075		0.308	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0	67	0	A	XM_291028		180334633	-1	tier1	-	no_errors	ENST00000442201	ensembl	human	known	74_37	nonsense	20.00	148	37	SNP	0.853	C	C	180334633	A	C	180334633	4	2	35	1	0	0	0	0	0	1	0	0	2818	372	13	4	454	4	CCDC39	3	180334633	Nonsense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	5519738	180334633	17687797	39	8398											
KLHL6	89857	genome.wustl.edu	37	chr3	183209898	183209898	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcccgcccgccggtgatGtagagccggttgttgcaggg	4	9	16	12	5	0	2	0	1	0	1	2	2	1	2	4	3	2	4	4	3	1	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:183209898G>C	ENST00000341319.3	-	7	1718	c.1683C>G	c.(1681-1683)taC>taG	p.Y561*		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	561					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGCCGGTGATGTAGAGCCGGT	0.667																																																	0													68	67	67					3																	183209898		2203	4299	6502	SO:0001587	stop_gained	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1683C>G	3.37:g.183209898G>C	ENSP00000341342:p.Tyr561*		B2RB31|D3DNS8|Q8N5I1|Q8N892	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y561*	ENST00000341319.3	37	c.1683	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	G	37	6.400762	0.97537	.	.	ENSG00000172578	ENST00000341319	.	.	.	5.66	3.84	0.44239	.	0.047694	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9689	0.47428	0.1526:0.0:0.8474:0.0	.	.	.	.	X	561	.	ENSP00000341342:Y561X	Y	-	3	2	KLHL6	184692592	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.692000	0.37731	1.368000	0.46115	0.491000	0.48974	TAC	KLHL6	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000172578		0.667	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	-	0	89	0	G	NM_130446		183209898	-1	tier1	-	no_errors	ENST00000341319	ensembl	human	known	74_37	nonsense	31.10	144	65	SNP	1.000	C	C	183209898	G	C	183209898	4	2	35	1	0	0	0	0	0	1	0	0	8420	1372	48	5	186	5	KLHL6	3	183209898	Nonsense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	2875265	183209898	14812532	40	8399											
YEATS2	55689	genome.wustl.edu	37	chr3	183472028	183472029	+	Frame_Shift_Ins	INS	-	-	T																															aaagttaccttttgttcccaINStggcaattcagctttccagc																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr3:183472028_183472029insT	ENST00000305135.5	+	11	1460_1461	c.1265_1266insT	c.(1264-1269)catggcfs	p.G423fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	423					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTTGTTCCCATGGCAATTCAG	0.441																																																	0																																										SO:0001589	frameshift_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.1266dupT	3.37:g.183472029_183472029dupT	ENSP00000306983:p.Gly423fs		A7E2B9|D3DNS9|Q641P6|Q9NW96	Frame_Shift_Ins	INS	pfam_YEATS,pfscan_YEATS	p.G423fs	ENST00000305135.5	37	c.1265_1266	CCDS43175.1	3																																																																																			YEATS2	-	NULL	ENSG00000163872		0.441	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2		0	58	0	-	NM_018023		183472029	1	tier1		no_errors	ENST00000305135	ensembl	human	known	74_37	frame_shift_ins	14.49	118	20	INS	1.000:1.000	T	T	183472029	-	T	183472028	7	5	35	1	0	1	1	0	0	0	0	0	17521	217	8	0	1303	0	YEATS2	3	183472028	Frame_Shift_Ins	INS	-	TCGA-JY-A6FA-01A-11D-A33E-09	262130	183472028	14550402	41	8400											
GRXCR1	389207	genome.wustl.edu	37	chr4	43022436	43022436	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatcctaaccaaaattgaGgtaaatgtgctttcagcaac	15	10	7	9	0	1	1	1	1	0	0	2	2	2	1	2	1	4	3	2	1	6	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:43022436G>T	ENST00000399770.2	+	3	693	c.693G>T	c.(691-693)gaG>gaT	p.E231D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	231	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.E231D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CCAAAATTGAGGTAAATGTGC	0.333																																																	1	Substitution - Missense(1)	lung(1)											77	74	75					4																	43022436		1836	4077	5913	SO:0001630	splice_region_variant	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 88"	613283	"deafness, autosomal recessive 25"	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.693+1G>T	4.37:g.43022436G>T				Missense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.E231D	ENST00000399770.2	37	c.693	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404740	0.83230	.	.	ENSG00000215203	ENST00000399770	T	0.38240	1.15	5.79	5.79	0.91817	Glutaredoxin (1);	0.000000	0.64402	U	0.000001	T	0.56031	0.1958	L	0.53249	1.67	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.42599	-0.9442	10	0.30854	T	0.27	-21.8807	19.0179	0.92901	0.0:0.0:1.0:0.0	.	231	A8MXD5	GRCR1_HUMAN	D	231	ENSP00000382670:E231D	ENSP00000382670:E231D	E	+	3	2	GRXCR1	42717193	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.406000	0.97321	2.741000	0.93983	0.484000	0.47621	GAG	GRXCR1	-	NULL	ENSG00000215203		0.333	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1		0	88	0	G	NM_001080476	Missense_Mutation	43022436	1			no_errors	ENST00000399770	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	43022436	G	T	43022436	5	4	35	1	0	0	0	0	0	0	1	0	6839	1014	35	3	703	3	GRXCR1	4	43022436	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		43022436	148131840	42	8401											
FRYL	285527	genome.wustl.edu	37	chr4	48550804	48550804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaaggatcactgctatGttacacctatgacaaataag	16	10	7	8	0	2	1	2	1	0	0	2	2	2	2	1	1	2	2	1	1	7	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:48550804G>T	ENST00000503238.1	-	37	4790	c.4791C>A	c.(4789-4791)aaC>aaA	p.N1597K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.N1597K|FRYL_ENST00000537810.1_Missense_Mutation_p.N1597K			O94915	FRYL_HUMAN	FRY-like	1597					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCACTGCTATGTTACACCTAT	0.343																																																	0													73	68	70					4																	48550804		1868	4098	5966	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4791C>A	4.37:g.48550804G>T	ENSP00000426064:p.Asn1597Lys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N1597K	ENST00000503238.1	37	c.4791	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.20|19.20	3.781479|3.781479	0.70222|0.70222	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|T;T;T	.|0.04406	.|3.63;3.63;3.63	5.32|5.32	4.46|4.46	0.54185|0.54185	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16896|0.16896	0.0406|0.0406	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|B;P;P	.|0.39520	.|0.193;0.676;0.625	.|B;P;P	.|0.56163	.|0.239;0.793;0.682	T|T	0.00015|0.00015	-1.2400|-1.2400	5|10	.|0.72032	.|D	.|0.01	.|.	10.9739|10.9739	0.47454|0.47454	0.1494:0.0:0.8506:0.0|0.1494:0.0:0.8506:0.0	.|.	.|428;1597;1597	.|Q6ZR29;O94915;F5GX82	.|.;FRYL_HUMAN;.	N|K	468|1597	.|ENSP00000426064:N1597K;ENSP00000351113:N1597K;ENSP00000441114:N1597K	.|ENSP00000351113:N1597K	H|N	-|-	1|3	0|2	FRYL|FRYL	48245561|48245561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	1.251000|1.251000	0.32862|0.32862	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	CAT|AAC	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	57	0	G			48550804	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	48550804	G	T	48550804	3	4	35	1	0	0	0	0	1	0	0	0	6088	1368	48	3	4350	3	FRYL	4	48550804	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5528368	48550804	142603472	43	8402											
FRYL	285527	genome.wustl.edu	37	chr4	48597931	48597931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctttgagttacagtgttGctttcacattttattctaat	9	19	5	8	0	2	1	1	1	1	0	2	1	2	1	1	0	2	3	1	0	3	8			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:48597931G>T	ENST00000503238.1	-	11	1121	c.1122C>A	c.(1120-1122)agC>agA	p.S374R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.S374R|FRYL_ENST00000507711.1_Missense_Mutation_p.S374R|FRYL_ENST00000506685.1_Missense_Mutation_p.S80R|FRYL_ENST00000537810.1_Missense_Mutation_p.S374R			O94915	FRYL_HUMAN	FRY-like	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTACAGTGTTGCTTTCACATT	0.274																																																	0													65	60	62					4																	48597931		1817	4071	5888	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1122C>A	4.37:g.48597931G>T	ENSP00000426064:p.Ser374Arg		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S374R	ENST00000503238.1	37	c.1122	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093183	0.76756	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.65364	1.6;1.6;1.6;-0.15	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.79969	0.4538	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.75020	0.985;0.978	T	0.77446	-0.2585	10	0.41790	T	0.15	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	374;374	F2Z2S2;O94915	.;FRYL_HUMAN	R	374;374;374;374;80	ENSP00000426064:S374R;ENSP00000351113:S374R;ENSP00000441114:S374R;ENSP00000421584:S374R	ENSP00000351113:S374R	S	-	3	2	FRYL	48292688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.524000	0.53495	2.801000	0.96364	0.650000	0.86243	AGC	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.274	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2		0	72	0	G			48597931	-1			no_errors	ENST00000358350	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	48597931	G	T	48597931	3	4	35	1	0	0	0	0	1	0	0	0	6088	1310	46	3	8123	3	FRYL	4	48597931	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	47127	48597931	142556345	44	8403											
C4orf35	85438	genome.wustl.edu	37	chr4	71201456	71201456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattccagacataactgccCttgaagaagagaaaataacc	17	8	6	10	0	0	4	0	1	0	3	1	5	1	4	3	0	3	0	3	0	7	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:71201456C>G	ENST00000273936.5	+	1	774	c.700C>G	c.(700-702)Ctt>Gtt	p.L234V		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	234					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CATAACTGCCCTTGAAGAAGA	0.433																																																	0													96	99	98					4																	71201456		2203	4300	6503	SO:0001583	missense	0			AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"casein-like phosphoprotein"		"chromosome 4 open reading frame 35"	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.700C>G	4.37:g.71201456C>G	ENSP00000273936:p.Leu234Val		B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	NULL	p.L234V	ENST00000273936.5	37	c.700	CCDS3539.1	4	.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042861	0.01997	.	.	ENSG00000145309	ENST00000273936	T	0.26957	1.7	4.57	-0.376	0.12505	.	1.128570	0.06857	N	0.798383	T	0.09818	0.0241	N	0.11560	0.145	0.09310	N	1	B	0.21753	0.06	B	0.23419	0.046	T	0.28490	-1.0042	10	0.02654	T	1	-23.8753	1.7855	0.03040	0.1521:0.3737:0.2963:0.178	.	234	Q96KC9	CABS1_HUMAN	V	234	ENSP00000273936:L234V	ENSP00000273936:L234V	L	+	1	0	CABS1	71236045	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.192000	0.09587	-0.230000	0.09840	0.655000	0.94253	CTT	CABS1	-	NULL	ENSG00000145309		0.433	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	CABS1	HGNC	protein_coding	OTTHUMT00000251561.3	-	0	24	0	C	NM_033122		71201456	1	tier1	-	no_errors	ENST00000273936	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.000	G	G	71201456	C	G	71201456	3	3	35	1	0	0	0	0	1	0	0	0	2272	681	24	5	702	5	C4orf35	4	71201456	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	22603525	71201456	119952820	45	8404											
SHROOM3	57619	genome.wustl.edu	37	chr4	77661188	77661188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacaagagatcttccaGgctctcagagccctgggagg	11	7	13	10	0	2	4	1	1	2	3	4	6	3	5	2	3	1	1	2	3	2	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:77661188G>A	ENST00000296043.6	+	5	2815	c.1862G>A	c.(1861-1863)aGg>aAg	p.R621K		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	621					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.S619fs*25(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGATCTTCCAGGCTCTCAGAG	0.572																																																	1	Deletion - Frameshift(1)	ovary(1)											123	131	128					4																	77661188		2203	4300	6503	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1862G>A	4.37:g.77661188G>A	ENSP00000296043:p.Arg621Lys		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R621K	ENST00000296043.6	37	c.1862	CCDS3579.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.880|9.880	1.201395|1.201395	0.22121|0.22121	.|.	.|.	ENSG00000138771|ENSG00000138771	ENST00000380735|ENST00000296043	.|T	.|0.28255	.|1.62	5.64|5.64	4.79|4.79	0.61399|0.61399	.|.	.|0.752143	.|0.12670	.|N	.|0.448847	T|T	0.19287|0.19287	0.0463|0.0463	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|B;P;P	.|0.38922	.|0.435;0.651;0.651	.|B;B;B	.|0.29598	.|0.104;0.057;0.057	T|T	0.11916|0.11916	-1.0568|-1.0568	6|10	0.20046|0.11485	T|T	0.44|0.65	-4.0378|-4.0378	5.5155|5.5155	0.16904|0.16904	0.1205:0.0:0.6706:0.2089|0.1205:0.0:0.6706:0.2089	.|.	.|445;621;399	.|B4E244;Q8TF72;B3KY47	.|.;SHRM3_HUMAN;.	S|K	161|621	.|ENSP00000296043:R621K	ENSP00000370111:G161S|ENSP00000296043:R621K	G|R	+|+	1|2	0|0	SHROOM3|SHROOM3	77880212|77880212	0.129000|0.129000	0.22400|0.22400	0.182000|0.182000	0.23118|0.23118	0.319000|0.319000	0.28217|0.28217	1.622000|1.622000	0.36997|0.36997	1.350000|1.350000	0.45770|0.45770	0.462000|0.462000	0.41574|0.41574	GGC|AGG	SHROOM3	-	NULL	ENSG00000138771		0.572	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0	34	0	G	NM_020859		77661188	1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.083	A	A	77661188	G	A	77661188	3	1	35	1	0	0	0	0	1	0	0	0	14340	1000	35	3	1880	3	SHROOM3	4	77661188	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	6459732	77661188	113493088	46	8405											
WDFY3	23001	genome.wustl.edu	37	chr4	85731437	85731437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtaatgtacacaaatcCtccaactttcctaaaaactg	15	11	5	10	0	0	0	0	0	0	0	3	1	3	1	3	1	3	2	3	1	7	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:85731437C>T	ENST00000295888.4	-	14	2355	c.1948G>A	c.(1948-1950)Gga>Aga	p.G650R	WDFY3_ENST00000322366.6_Missense_Mutation_p.G650R|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	650					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACACAAATCCTCCAACTTTC	0.418																																																	0													59	53	55					4																	85731437		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1948G>A	4.37:g.85731437C>T	ENSP00000295888:p.Gly650Arg		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G650R	ENST00000295888.4	37	c.1948	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.348970	0.95807	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.52983	0.64;0.64	5.73	5.73	0.89815	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73219	-0.4052	10	0.87932	D	0	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	650;650	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	R	650	ENSP00000318466:G650R;ENSP00000295888:G650R	ENSP00000295888:G650R	G	-	1	0	WDFY3	85950461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.692000	0.91855	0.591000	0.81541	GGA	WDFY3	-	superfamily_ARM-type_fold	ENSG00000163625		0.418	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	24	0	C	NM_014991		85731437	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	T	T	85731437	C	T	85731437	3	4	35	1	0	0	0	0	1	0	0	0	17319	690	24	3	8895	3	WDFY3	4	85731437	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	8070249	85731437	105422839	47	8406											
GRID2	2895	genome.wustl.edu	37	chr4	94376819	94376819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tttcaatttctcagagagccGacatagggatttctgcttta	10	15	8	8	1	3	1	2	0	2	1	4	4	3	2	1	1	2	1	1	1	3	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:94376819G>C	ENST00000282020.4	+	11	1810	c.1552G>C	c.(1552-1554)Gac>Cac	p.D518H	GRID2_ENST00000510992.1_Missense_Mutation_p.D423H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	518					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TCAGAGAGCCGACATAGGGAT	0.408																																																	0													62	63	63					4																	94376819		2203	4300	6503	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1552G>C	4.37:g.94376819G>C	ENSP00000282020:p.Asp518His		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D518H	ENST00000282020.4	37	c.1552	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535053	0.85812	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.64260	-0.09;-0.09	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.81650	0.4867	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83148	-0.0105	10	0.87932	D	0	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	423;518	E9PH24;O43424	.;GRID2_HUMAN	H	518;423	ENSP00000282020:D518H;ENSP00000421257:D423H	ENSP00000282020:D518H	D	+	1	0	GRID2	94595842	1.000000	0.71417	0.963000	0.40424	0.984000	0.73092	9.869000	0.99810	2.721000	0.93114	0.655000	0.94253	GAC	GRID2	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152208		0.408	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0	22	0	G			94376819	1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	77.78	4	14	SNP	1.000	C	C	94376819	G	C	94376819	3	2	35	1	0	0	0	0	1	0	0	0	6799	1058	37	5	1594	5	GRID2	4	94376819	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	8645382	94376819	96777457	48	8407											
SLC39A8	64116	genome.wustl.edu	37	chr4	103184318	103184318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtttttcttccagttacCttttctctcagcatatcatt	6	20	4	11	1	4	0	2	0	2	0	7	0	5	0	2	1	2	3	2	1	2	8			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:103184318C>T	ENST00000394833.2	-	8	1742	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	SLC39A8_ENST00000424970.2_Splice_Site_p.K422K|SLC39A8_ENST00000356736.4_Silent_p.K422K	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	422					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		TTCCAGTTACCTTTTCTCTCA	0.383																																																	0													138	131	133					4																	103184318		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.1266G>A	4.37:g.103184318C>T			B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	pfam_ZIP	p.K422	ENST00000394833.2	37	c.1266	CCDS3656.1	4																																																																																			SLC39A8	-	pfam_ZIP	ENSG00000138821		0.383	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	-	0	67	0	C	NM_022154		103184318	-1	tier1	-	no_errors	ENST00000356736	ensembl	human	known	74_37	silent	67.44	14	29	SNP	0.993	T	T	103184318	C	T	103184318	2	4	35	1	0	0	0	0	0	0	0	1	14669	695	24	3		3	SLC39A8	4	103184318	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	8807499	103184318	87969958	49	8408											
ANK2	287	genome.wustl.edu	37	chr4	114253158	114253158	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaacggctcctcccccActtaatgagggagaaagttt	10	9	9	13	1	0	2	0	1	0	1	2	3	2	2	4	2	2	2	4	2	3	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:114253158A>C	ENST00000357077.4	+	28	3209	c.3156A>C	c.(3154-3156)ccA>ccC	p.P1052P	ANK2_ENST00000264366.6_Intron|ANK2_ENST00000506722.1_Silent_p.P1043P|ANK2_ENST00000394537.3_Silent_p.P1052P|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1052	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCCTCCCCCACTTAATGAGG	0.478																																																	0													124	136	132					4																	114253158		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3156A>C	4.37:g.114253158A>C			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P1052	ENST00000357077.4	37	c.3156	CCDS3702.1	4																																																																																			ANK2	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000145362		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	62	0	A	NM_001148		114253158	1			no_errors	ENST00000357077	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	C	C	114253158	A	C	114253158	2	2	35	1	0	0	0	0	0	0	0	1	621	146	6	4		4	ANK2	4	114253158	Silent	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	11068840	114253158	76901118	50	8409											
ANK2	287	genome.wustl.edu	37	chr4	114275857	114275857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagagaaaggtaaagttcGggtagaaaaagaaaaggggc	20	4	14	3	1	0	3	0	0	0	3	1	4	0	3	0	4	0	3	0	4	9	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:114275857G>T	ENST00000357077.4	+	38	6136	c.6083G>T	c.(6082-6084)cGg>cTg	p.R2028L	ANK2_ENST00000264366.6_Missense_Mutation_p.R1995L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2028					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGTAAAGTTCGGGTAGAAAAA	0.458																																																	0													40	47	44					4																	114275857		2201	4298	6499	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6083G>T	4.37:g.114275857G>T	ENSP00000349588:p.Arg2028Leu		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R2028L	ENST00000357077.4	37	c.6083	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	6.349	0.432501	0.12045	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67171	-0.24;-0.25	5.53	4.68	0.58851	.	0.129029	0.35013	N	0.003515	T	0.55737	0.1939	L	0.48362	1.52	0.38381	D	0.945133	P;P	0.47191	0.826;0.891	B;B	0.41374	0.194;0.355	T	0.58578	-0.7612	9	.	.	.	.	7.7277	0.28769	0.1386:0.1593:0.702:0.0	.	1995;2028	Q01484;Q01484-4	ANK2_HUMAN;.	L	2028;1995	ENSP00000349588:R2028L;ENSP00000264366:R1995L	.	R	+	2	0	ANK2	114495306	0.057000	0.20700	0.117000	0.21633	0.129000	0.20672	1.667000	0.37471	2.746000	0.94184	0.563000	0.77884	CGG	ANK2	-	NULL	ENSG00000145362		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	39	0	G	NM_001148		114275857	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.114	T	T	114275857	G	T	114275857	3	4	35	1	0	0	0	0	1	0	0	0	621	1116	39	2	6298	2	ANK2	4	114275857	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	22699	114275857	76878419	51	8410											
TRIM60	166655	genome.wustl.edu	37	chr4	165962177	165962177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatagaaaagctgtgcGatatgaaagaaaaaaacgaa	21	6	11	3	2	0	4	0	2	0	2	0	7	0	5	0	1	3	1	0	1	9	2	rs535129175		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr4:165962177G>T	ENST00000512596.1	+	3	1169	c.953G>T	c.(952-954)cGa>cTa	p.R318L	TRIM60_ENST00000508504.1_Missense_Mutation_p.R318L|TRIM60_ENST00000341062.5_Missense_Mutation_p.R318L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	318	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R318Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAGCTGTGCGATATGAAAGA	0.413																																																	1	Substitution - Missense(1)	NS(1)											94	96	96					4																	165962177		2203	4300	6503	SO:0001583	missense	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21162	protein-coding gene	gene with protein product			"ring finger protein 129", "tripartite motif-containing 60"	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.953G>T	4.37:g.165962177G>T	ENSP00000421142:p.Arg318Leu		Q8NA35	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R318L	ENST00000512596.1	37	c.953	CCDS3808.1	4	.	.	.	.	.	.	.	.	.	.	G	3.825	-0.037027	0.07497	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.03982	3.74;3.74;3.74	2.49	-4.98	0.03019	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	7.611780	0.01049	U	0.004427	T	0.07143	0.0181	M	0.77313	2.365	0.09310	N	1	B	0.12630	0.006	B	0.17433	0.018	T	0.35500	-0.9786	10	0.35671	T	0.21	.	1.5093	0.02493	0.3203:0.35:0.1973:0.1324	.	318	Q495X7	TRI60_HUMAN	L	318	ENSP00000421142:R318L;ENSP00000426496:R318L;ENSP00000343765:R318L	ENSP00000343765:R318L	R	+	2	0	TRIM60	166181627	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-3.039000	0.00633	-1.687000	0.01437	-0.140000	0.14226	CGA	TRIM60	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000176979		0.413	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	-	0	63	0	G	NM_152620		165962177	1	tier1	-	no_errors	ENST00000341062	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.000	T	T	165962177	G	T	165962177	3	4	35	1	0	0	0	0	1	0	0	0	16583	1058	37	2	955	2	TRIM60	4	165962177	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	51686320	165962177	25192099	52	8411											
NKD2	85409	genome.wustl.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69																																																	0																																										SO:0001651	inframe_deletion	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315_1317delCAC	5.37:g.1038456_1038458delCAC	ENSP00000296849:p.His447del		Q96EK8|Q9BSN0	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.H442in_frame_del	ENST00000296849.5	37	c.1315_1317	CCDS3859.1	5																																																																																			NKD2	-	NULL	ENSG00000145506		0.69	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2		0	45	0	CAC	NM_033120		1038449	1	tier1		no_errors	ENST00000296849	ensembl	human	known	74_37	in_frame_del	9.76	37	4	DEL	1.000:1.000:1.000	-	-	1038449	CAC	-	1038447	7	5	35	1	0	1	0	1	0	0	0	0	10481	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-JY-A6FA-01A-11D-A33E-09		1038447	179876813	53	8412											
MED10	84246	genome.wustl.edu	37	chr5	6372690	6372690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaaatactttagaaagttCttgaatcaacaggcttttaa	15	13	7	6	1	2	2	1	1	1	1	2	3	2	3	0	2	2	2	0	2	7	7			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:6372690C>T	ENST00000255764.3	-	4	444	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	112					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						TTAGAAAGTTCTTGAATCAAC	0.398																																																	0													78	84	82					5																	6372690		2203	4300	6503	SO:0001583	missense	0				CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"NUT2 homolog (S. cerevisiae)"	612382	"mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.334G>A	5.37:g.6372690C>T	ENSP00000255764:p.Glu112Lys		C6G491	Missense_Mutation	SNP	pfam_Mediator_Med10	p.E112K	ENST00000255764.3	37	c.334	CCDS34134.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.607618	0.96626	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.77778	0.4181	M	0.65975	2.015	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.72221	-0.4356	9	0.29301	T	0.29	-31.994	19.4269	0.94746	0.0:1.0:0.0:0.0	.	112	Q9BTT4	MED10_HUMAN	K	112	.	ENSP00000255764:E112K	E	-	1	0	MED10	6425690	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.133000	0.71682	2.836000	0.97738	0.655000	0.94253	GAA	MED10	-	pfam_Mediator_Med10	ENSG00000133398		0.398	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED10	HGNC	protein_coding	OTTHUMT00000365714.1	-	0	74	0	C	NM_032286		6372690	-1	tier1	-	no_errors	ENST00000255764	ensembl	human	known	74_37	missense	27.82	96	37	SNP	1.000	T	T	6372690	C	T	6372690	3	4	35	1	0	0	0	0	1	0	0	0	9464	922	32	3	77	3	MED10	5	6372690	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	5334243	6372690	174542570	54	8413											
ANKH	56172	genome.wustl.edu	37	chr5	14769140	14769140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccaccatacacaggacgGctttggtcctgtctctcttg	7	11	8	15	1	2	0	0	0	2	0	4	1	3	1	4	3	1	1	4	3	1	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:14769140G>A	ENST00000284268.6	-	2	587	c.257C>T	c.(256-258)gCc>gTc	p.A86V		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	86					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACACAGGACGGCTTTGGTCCT	0.552																																																	0													92	85	87					5																	14769140		2203	4300	6503	SO:0001583	missense	0			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.257C>T	5.37:g.14769140G>A	ENSP00000284268:p.Ala86Val		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	pfam_ANKH	p.A86V	ENST00000284268.6	37	c.257	CCDS3885.1	5	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888627	0.72524	.	.	ENSG00000154122	ENST00000284268	D	0.95885	-3.84	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	L	0.39633	1.23	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.92017	0.5623	10	0.02654	T	1	0.0061	18.4196	0.90586	0.0:0.0:1.0:0.0	.	86	Q9HCJ1	ANKH_HUMAN	V	86	ENSP00000284268:A86V	ENSP00000284268:A86V	A	-	2	0	ANKH	14822140	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.869000	0.99810	2.588000	0.87417	0.650000	0.86243	GCC	ANKH	-	pfam_ANKH	ENSG00000154122		0.552	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	-	0	46	0	G	NM_054027		14769140	-1	tier1	-	no_errors	ENST00000284268	ensembl	human	known	74_37	missense	58.18	23	32	SNP	1.000	A	A	14769140	G	A	14769140	3	1	35	1	0	0	0	0	1	0	0	0	627	1203	42	3	1265	3	ANKH	5	14769140	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	8396450	14769140	166146120	55	8414											
GZMK	3003	genome.wustl.edu	37	chr5	54320606	54320606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttctgattgatccacagtgGgtgctgacagcagcccactg	8	10	12	11	0	1	3	0	3	1	0	2	3	2	3	2	1	3	3	2	1	0	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:54320606G>T	ENST00000231009.2	+	2	253	c.183G>T	c.(181-183)tgG>tgT	p.W61C	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000596909.2_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|ESM1_ENST00000598310.1_5'Flank|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000607910.1_RNA|CTD-2313F11.1_ENST00000371487.3_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	61	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATCCACAGTGGGTGCTGACAG	0.473																																																	0													58	58	58					5																	54320606		2203	4300	6503	SO:0001583	missense	0			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.183G>T	5.37:g.54320606G>T	ENSP00000231009:p.Trp61Cys		B2R563	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.W61C	ENST00000231009.2	37	c.183	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707448	0.48412	.	.	ENSG00000113088	ENST00000231009	D	0.90900	-2.75	5.11	4.17	0.49024	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.96658	0.8909	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97115	0.9807	10	0.87932	D	0	.	14.5615	0.68140	0.0:0.0:0.8532:0.1468	.	61	P49863	GRAK_HUMAN	C	61	ENSP00000231009:W61C	ENSP00000231009:W61C	W	+	3	0	GZMK	54356363	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	3.778000	0.55371	2.814000	0.96858	0.591000	0.81541	TGG	GZMK	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000113088		0.473	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1		0	31	0	G	NM_002104		54320606	1			no_errors	ENST00000231009	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	54320606	G	T	54320606	3	4	35	1	0	0	0	0	1	0	0	0	6945	1241	43	3	189	3	GZMK	5	54320606	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	39551466	54320606	126594654	56	8415											
MAP1B	4131	genome.wustl.edu	37	chr5	71489749	71489749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccagcttaaccctgttCtgtcctgaagaaggggactg	11	9	11	10	0	1	2	0	1	1	1	2	3	2	3	3	2	3	2	3	2	4	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:71489749C>A	ENST00000296755.7	+	5	865	c.567C>A	c.(565-567)ttC>ttA	p.F189L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	189					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TAACCCTGTTCTGTCCTGAAG	0.418																																					Melanoma(17;367 822 11631 31730 47712)												0													79	76	77					5																	71489749		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.567C>A	5.37:g.71489749C>A	ENSP00000296755:p.Phe189Leu		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.F189L	ENST00000296755.7	37	c.567	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891435	0.52014	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03745	3.82;3.82;3.82	6.08	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.09335	0.0230	L	0.56769	1.78	0.58432	D	0.99999	D;D	0.60575	0.988;0.988	P;P	0.54759	0.76;0.76	T	0.03268	-1.1054	10	0.52906	T	0.07	-18.0585	9.4848	0.38922	0.0:0.7909:0.0:0.2091	.	63;189	A2BDK6;P46821	.;MAP1B_HUMAN	L	189;206;63	ENSP00000296755:F189L;ENSP00000423444:F206L;ENSP00000423416:F63L	ENSP00000296755:F189L	F	+	3	2	MAP1B	71525505	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.313000	0.33585	1.590000	0.49995	0.591000	0.81541	TTC	MAP1B	-	NULL	ENSG00000131711		0.418	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0	77	0	C	NM_005909		71489749	1			no_errors	ENST00000296755	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	71489749	C	A	71489749	3	1	35	1	0	0	0	0	1	0	0	0	9266	912	32	3	585	3	MAP1B	5	71489749	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	17169143	71489749	109425511	57	8416											
C5orf36	285600	genome.wustl.edu	37	chr5	93856101	93856101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtaagtttctttaatGaatttcaccattgaagatgg	12	15	8	6	0	2	3	1	2	1	1	3	3	3	3	2	2	0	2	2	2	4	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:93856101G>T	ENST00000329378.7	-	5	1071	c.822C>A	c.(820-822)ttC>ttA	p.F274L	KIAA0825_ENST00000513200.3_Missense_Mutation_p.F274L|KIAA0825_ENST00000312498.7_Missense_Mutation_p.F274L|KIAA0825_ENST00000427991.2_Missense_Mutation_p.F274L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	274										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTCTTTAATGAATTTCACCA	0.323																																																	0													48	50	49					5																	93856101		2203	4298	6501	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 36"	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.822C>A	5.37:g.93856101G>T	ENSP00000331385:p.Phe274Leu		O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.F274L	ENST00000329378.7	37	c.822	CCDS4070.1	5	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498382	0.64298	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.84516	0.75;0.75;-1.86;-1.86	5.34	5.34	0.76211	.	0.132854	0.56097	D	0.000032	D	0.89234	0.6657	M	0.64997	1.995	0.35418	D	0.792977	D;D	0.71674	0.996;0.998	D;D	0.80764	0.99;0.994	D	0.90713	0.4629	10	0.42905	T	0.14	.	8.2272	0.31575	0.1359:0.0:0.8641:0.0	.	274;274	Q8IV33;Q8IV33-2	K0825_HUMAN;.	L	274	ENSP00000424618:F274L;ENSP00000400288:F274L;ENSP00000312205:F274L;ENSP00000331385:F274L	ENSP00000312205:F274L	F	-	3	2	KIAA0825	93881857	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.370000	0.44240	2.501000	0.84356	0.460000	0.39030	TTC	KIAA0825	-	NULL	ENSG00000185261		0.323	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2	-	0	49	0	G	NM_173665		93856101	-1	tier1	-	no_errors	ENST00000427991	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	93856101	G	T	93856101	3	4	35	1	0	0	0	0	1	0	0	0	2302	1281	45	3	3078	3	C5orf36	5	93856101	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	22366352	93856101	87059159	58	8417											
CHD1	1105	genome.wustl.edu	37	chr5	98194026	98194026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatggtactgagttaagtGtctatcagaggaataactgt	13	13	10	5	0	3	2	2	1	1	1	3	3	3	3	0	2	2	2	0	2	5	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:98194026G>T	ENST00000284049.3	-	34	4794	c.4645C>A	c.(4645-4647)Cac>Aac	p.H1549N		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1549					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGAGTTAAGTGTCTATCAGAG	0.353																																																	0													267	260	262					5																	98194026		2203	4300	6503	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4645C>A	5.37:g.98194026G>T	ENSP00000284049:p.His1549Asn		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1549N	ENST00000284049.3	37	c.4645	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774927	0.49786	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.90844	-2.74	5.31	5.31	0.75309	.	0.000000	0.34959	U	0.003549	D	0.93621	0.7963	L	0.59436	1.845	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	D	0.92153	0.5730	10	0.35671	T	0.21	.	19.324	0.94254	0.0:0.0:1.0:0.0	.	1549	O14646	CHD1_HUMAN	N	139;1549	ENSP00000284049:H1549N	ENSP00000284049:H1549N	H	-	1	0	CHD1	98221926	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	9.173000	0.94815	2.635000	0.89317	0.555000	0.69702	CAC	CHD1	-	NULL	ENSG00000153922		0.353	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	51	0	G	NM_001270		98194026	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	98194026	G	T	98194026	3	4	35	1	0	0	0	0	1	0	0	0	3330	1377	48	3	495	3	CHD1	5	98194026	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	4337925	98194026	82721234	59	8418											
FAM170A	340069	genome.wustl.edu	37	chr5	118970255	118970255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctgacaggcaacaTggaatcagagagcacccaag	14	4	12	11	0	2	2	2	1	0	1	2	4	2	3	1	3	3	4	1	3	3	0	rs528739250		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:118970255T>C	ENST00000515256.1	+	3	984	c.812T>C	c.(811-813)aTg>aCg	p.M271T				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	271					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACAGGCAACATGGAATCAGAG	0.542																																																	0													116	124	121					5																	118970255		2059	4218	6277	SO:0001583	missense	0			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.812T>C	5.37:g.118970255T>C	ENSP00000422684:p.Met271Thr		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	NULL	p.M271T	ENST00000515256.1	37	c.812		5	.	.	.	.	.	.	.	.	.	.	T	4.598	0.111134	0.08831	.	.	ENSG00000164334	ENST00000515256	T	0.29917	1.55	4.59	0.753	0.18404	.	1.045340	0.07539	N	0.913546	T	0.16642	0.0400	N	0.22421	0.69	0.09310	N	1	B;B	0.18863	0.031;0.016	B;B	0.14023	0.01;0.01	T	0.30736	-0.9968	9	.	.	.	-0.5111	1.4729	0.02420	0.1764:0.0966:0.1836:0.5434	.	224;271	D6RIE9;A1A519	.;F170A_HUMAN	T	271	ENSP00000422684:M271T	.	M	+	2	0	FAM170A	118998154	0.001000	0.12720	0.012000	0.15200	0.044000	0.14063	-0.196000	0.09532	0.129000	0.18514	0.533000	0.62120	ATG	FAM170A	-	NULL	ENSG00000164334		0.542	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	FAM170A	HGNC	protein_coding	OTTHUMT00000371126.1	-	0	33	0	T	NM_182761		118970255	1	tier1	-	no_errors	ENST00000515256	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.014	C	C	118970255	T	C	118970255	3	2	35	1	0	0	0	0	1	0	0	0	5508	1464	51	4	822	4	FAM170A	5	118970255	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	20776229	118970255	61945005	60	8419											
GABRA1	2554	genome.wustl.edu	37	chr5	161300308	161300309	+	Missense_Mutation	DNP	GA	GA	AT																															atgcccaacaaactcctgcgGatcacagaggatggcacctt																								rs190024862		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:161300308_161300309GA>AT	ENST00000428797.2	+	6	796_797	c.441_442GA>AT	c.(439-444)cgGAtc>cgATtc	p.I148F	GABRA1_ENST00000023897.6_Missense_Mutation_p.I148F|GABRA1_ENST00000393943.4_Missense_Mutation_p.I148F|GABRA1_ENST00000437025.2_Missense_Mutation_p.I148F|GABRA1_ENST00000444819.1_Missense_Mutation_p.I148F|GABRA1_ENST00000420560.1_Missense_Mutation_p.I148F	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	148					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AACTCCTGCGGATCACAGAGGA	0.465																																																	0																																										SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	Exception_encountered	5.37:g.161300308_161300309delinsAT	ENSP00000393097:p.Ile148Phe		D3DQK6|Q8N629	Silent|Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R147|p.I148F	ENST00000428797.2	37	c.441|c.442	CCDS4357.1	5																																																																																			GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000022355		0.465	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0	55	0	G|A	NM_000806.5		161300308|161300309	1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	silent|missense	10.45|10.61	60|59	7	SNP	0.617|1.000	A|T	AT	161300309	GA	AT	161300308	3	1	35	1	0	0	0	0	1	0	0	0	6184	1161	41	3	455	3	GABRA1	5	161300308	Missense_Mutation	DNP	GA	TCGA-JY-A6FA-01A-11D-A33E-09	42330053	161300308	19614952	61	8420											
CCDC99	54908	genome.wustl.edu	37	chr5	169015564	169015564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaatgtcgtaatgaaatGatgaccatgactgaggtagg	15	10	12	4	1	0	5	0	5	0	0	1	6	0	5	1	2	0	2	1	2	5	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr5:169015564G>T	ENST00000265295.4	+	2	423	c.144G>T	c.(142-144)atG>atT	p.M48I	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GTAATGAAATGATGACCATGA	0.383																																																	0													117	114	115					5																	169015564		2203	4300	6503	SO:0001583	missense	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.144G>T	5.37:g.169015564G>T	ENSP00000265295:p.Met48Ile			Missense_Mutation	SNP	NULL	p.M48I	ENST00000265295.4	37	c.144	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400591	0.62177	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.31247	1.5	5.6	1.58	0.23477	.	0.126811	0.64402	D	0.000001	T	0.21227	0.0511	L	0.47190	1.495	0.38056	D	0.935932	B	0.16603	0.018	B	0.16722	0.016	T	0.07385	-1.0775	10	0.27082	T	0.32	-5.0149	4.7975	0.13279	0.1821:0.1102:0.5947:0.113	.	48	Q96EA4	SPDLY_HUMAN	I	48	ENSP00000265295:M48I	ENSP00000265295:M48I	M	+	3	0	CCDC99	168948142	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.077000	0.41557	0.828000	0.34709	0.655000	0.94253	ATG	SPDL1	-	NULL	ENSG00000040275		0.383	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2		0	50	0	G	NM_017785		169015564	1			no_errors	ENST00000265295	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.996	T	T	169015564	G	T	169015564	3	4	35	1	0	0	0	0	1	0	0	0	2883	1290	45	3	146	3	CCDC99	5	169015564	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	7715256	169015564	11899696	62	8421											
TUBB2A	7280	genome.wustl.edu	37	chr6	3154692	3154692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagcttgcgcaggtctGcgttcagctggcccgggaag	5	7	15	14	4	2	0	1	0	1	0	2	1	2	1	3	3	4	4	3	3	1	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:3154692G>A	ENST00000333628.3	-	4	805	c.743C>T	c.(742-744)gCa>gTa	p.A248V	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'Flank	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	248			A -> V (in CDCBM5; reduces coassembly with tubulin subunits and incorporation into the microtubule polymer network). {ECO:0000269|PubMed:24702957}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCGCAGGTCTGCGTTCAGCTG	0.677																																																	0													11	10	10					6																	3154692		2170	4204	6374	SO:0001583	missense	0			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.743C>T	6.37:g.3154692G>A	ENSP00000369703:p.Ala248Val		Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.A248V	ENST00000333628.3	37	c.743	CCDS4484.1	6	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609924	0.46527	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	D	0.83163	-1.69	4.97	4.97	0.65823	Tubulin/FtsZ, 2-layer sandwich domain (1);Tubulin/FtsZ, GTPase domain (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.53938	U	0.000054	T	0.69033	0.3066	L	0.32530	0.975	0.80722	D	1	B;B;B	0.30236	0.068;0.008;0.274	B;B;B	0.24701	0.022;0.006;0.055	T	0.73550	-0.3947	10	0.87932	D	0	.	18.6621	0.91474	0.0:0.0:1.0:0.0	.	248;248;248	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	V	248;158	ENSP00000369703:A248V	ENSP00000369703:A248V	A	-	2	0	TUBB2A	3099691	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	9.591000	0.98241	2.487000	0.83934	0.644000	0.83932	GCA	TUBB2A	-	superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin	ENSG00000137267		0.677	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1	-	0	16	0	G	NM_001069		3154692	-1	tier1	-	no_errors	ENST00000333628	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A	A	3154692	G	A	3154692	3	1	35	1	0	0	0	0	1	0	0	0	16803	1319	46	3	598	3	TUBB2A	6	3154692	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		3154692	167960375	63	8422											
C6orf146	222826	genome.wustl.edu	37	chr6	4073518	4073518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcgcttacctcttctctAtggtacttccttcattaaga	8	17	4	12	1	3	1	1	0	2	1	6	1	4	1	2	1	3	2	2	1	5	8			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:4073518A>G	ENST00000274673.3	-	6	696	c.293T>C	c.(292-294)aTa>aCa	p.I98T	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	F217A_HUMAN	family with sequence similarity 217, member A	98																	CCTCTTCTCTATGGTACTTCC	0.318																																																	0													89	91	90					6																	4073518		2202	4300	6502	SO:0001583	missense	0			BC039349	CCDS4489.1	6p25.1	2012-02-07	2012-02-07	2012-02-07	ENSG00000145975	ENSG00000145975			21362	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 146"	C6orf146			Standard	NM_173563		Approved	MGC43581	uc003mvx.3	Q8IXS0	OTTHUMG00000014159	ENST00000274673.3:c.293T>C	6.37:g.4073518A>G	ENSP00000274673:p.Ile98Thr		Q5JYK1	Missense_Mutation	SNP	NULL	p.I98T	ENST00000274673.3	37	c.293	CCDS4489.1	6	.	.	.	.	.	.	.	.	.	.	A	6.985	0.551734	0.13374	.	.	ENSG00000145975	ENST00000274673;ENST00000470599;ENST00000498677	T	0.18960	2.18	5.05	1.35	0.21983	.	1.106090	0.06835	N	0.794635	T	0.03095	0.0091	N	0.14661	0.345	0.09310	N	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.44190	-0.9344	10	0.28530	T	0.3	-0.0035	2.6935	0.05127	0.5925:0.0:0.2151:0.1924	.	98	Q8IXS0	CF146_HUMAN	T	98;226;35	ENSP00000274673:I98T	ENSP00000274673:I98T	I	-	2	0	C6orf146	4018517	0.001000	0.12720	0.205000	0.23548	0.349000	0.29174	-0.095000	0.11077	0.080000	0.16959	0.383000	0.25322	ATA	FAM217A	-	NULL	ENSG00000145975		0.318	FAM217A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217A	HGNC	protein_coding	OTTHUMT00000352577.2	-	0	60	0	A	NM_173563		4073518	-1	tier1	-	no_errors	ENST00000274673	ensembl	human	known	74_37	missense	28.71	72	29	SNP	0.405	G	G	4073518	A	G	4073518	3	3	35	1	0	0	0	0	1	0	0	0	2342	449	16	4	1241	4	C6orf146	6	4073518	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	918826	4073518	167041549	64	8423											
SLC17A2	10246	genome.wustl.edu	37	chr6	25913642	25913642	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaacatgttgactgcagcaGacaggaaaaagacattcctc	16	7	8	10	0	0	3	0	1	0	2	2	4	1	4	1	1	3	3	1	1	3	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:25913642G>A	ENST00000265425.3	-	0	1395				SLC17A2_ENST00000377850.3_Missense_Mutation_p.S447F|SLC17A2_ENST00000360488.3_Silent_p.L398L			O00624	NPT3_HUMAN	solute carrier family 17, member 2						phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GACTGCAGCAGACAGGAAAAA	0.448																																																	0													103	93	96					6																	25913642		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.*55C>T	6.37:g.25913642G>A			A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S447F	ENST00000265425.3	37	c.1340		6	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699156	0.30142	.	.	ENSG00000112337	ENST00000377850	T	0.64260	-0.09	4.65	3.79	0.43588	.	0.216928	0.33382	N	0.004974	T	0.48519	0.1504	.	.	.	0.35348	D	0.78706	P	0.36465	0.554	B	0.43386	0.418	T	0.58719	-0.7587	9	0.87932	D	0	.	8.9271	0.35648	0.0988:0.0:0.9012:0.0	.	447	A6NK81	.	F	447	ENSP00000367081:S447F	ENSP00000367081:S447F	S	-	2	0	SLC17A2	26021621	0.999000	0.42202	0.886000	0.34754	0.044000	0.14063	4.635000	0.61332	1.591000	0.50007	-0.142000	0.14014	TCT	SLC17A2	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.448	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	-	0	56	0	G			25913642	-1	tier1	-	no_errors	ENST00000377850	ensembl	human	known	74_37	missense	28.87	69	28	SNP	0.944	A	A	25913642	G	A	25913642	1	1	35	0	1	0	0	0	0	0	0	0	14462	933	33	3		3	SLC17A2	6	25913642	3'UTR	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	21840124	25913642	145201425	65	8424											
HIST1H2AI	8329	genome.wustl.edu	37	chr6	27775992	27775992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataggccttttgccatgtCtgggcgtggcaagcagggag	8	10	15	8	1	1	0	0	0	1	0	1	1	1	1	2	4	2	2	2	4	3	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:27775992C>A	ENST00000358739.3	+	1	94	c.5C>A	c.(4-6)tCt>tAt	p.S2Y	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	2						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						TTTGCCATGTCTGGGCGTGGC	0.542																																																	0													65	76	72					6																	27775992		2202	4300	6502	SO:0001583	missense	0			Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"Histones / Replication-dependent"	4725	protein-coding gene	gene with protein product		602787	"H2A histone family, member C", "histone 1, H2ai"	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.5C>A	6.37:g.27775992C>A	ENSP00000351589:p.Ser2Tyr		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S2Y	ENST00000358739.3	37	c.5	CCDS4626.1	6	.	.	.	.	.	.	.	.	.	.	.	6.496	0.459770	0.12342	.	.	ENSG00000196747	ENST00000358739	D	0.92965	-3.14	4.34	4.34	0.51931	.	0.000000	0.39834	N	0.001245	D	0.92351	0.7573	.	.	.	0.29050	N	0.884567	.	.	.	.	.	.	D	0.89273	0.3606	7	0.87932	D	0	.	16.7792	0.85559	0.0:1.0:0.0:0.0	.	.	.	.	Y	2	ENSP00000351589:S2Y	ENSP00000351589:S2Y	S	+	2	0	HIST1H2AI	27883971	0.983000	0.35010	0.941000	0.38009	0.060000	0.15804	2.569000	0.45973	2.351000	0.79841	0.549000	0.68633	TCT	HIST1H2AI	-	superfamily_Histone-fold	ENSG00000196747		0.542	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AI	HGNC	protein_coding	OTTHUMT00000040152.1	-	0	66	0	C	NM_003509		27775992	1	tier1	-	no_errors	ENST00000358739	ensembl	human	known	74_37	missense	21.57	80	22	SNP	0.975	A	A	27775992	C	A	27775992	3	1	35	1	0	0	0	0	1	0	0	0	7162	913	32	3	7	3	HIST1H2AI	6	27775992	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	1862350	27775992	143339075	66	8425											
LRFN2	57497	genome.wustl.edu	37	chr6	40360135	40360135	+	Frame_Shift_Del	DEL	G	G	-																															gcggagggtgggatcctccaGggggcccgtcccagccccgc																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:40360135delG	ENST00000338305.6	-	3	2459	c.1917delC	c.(1915-1917)cccfs	p.P639fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	639						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGATCCTCCAGGGGGCCCGTC	0.706																																																	0													4	6	5					6																	40360135		2075	4121	6196	SO:0001589	frameshift_variant	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1917delC	6.37:g.40360135delG	ENSP00000345985:p.Pro639fs		A5PKU3|Q5SYP9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W640fs	ENST00000338305.6	37	c.1917	CCDS34443.1	6																																																																																			LRFN2	-	NULL	ENSG00000156564		0.706	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1		0	11	0	G	XM_166372		40360135	-1			no_errors	ENST00000338305	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.998	0	-	40360135	G	-	40360135	7	5	35	1	0	1	0	1	0	0	0	0	8973	987	35	0	456	0	LRFN2	6	40360135	Frame_Shift_Del	DEL	G	TCGA-JY-A6FA-01A-11D-A33E-09	12584143	40360135	130754932	67	8426											
MCM3	4172	genome.wustl.edu	37	chr6	52134018	52134018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgttcgggctgtaactgGagatgtctagggaagaaaag	12	9	15	5	1	1	2	0	0	1	2	2	4	1	3	0	3	1	3	0	3	5	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:52134018G>T	ENST00000229854.7	-	13	1910	c.1834C>A	c.(1834-1836)Cca>Aca	p.P612T	MCM3_ENST00000596288.1_Missense_Mutation_p.P657T|MCM3_ENST00000419835.2_Missense_Mutation_p.P566T			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	612					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTGTAACTGGAGATGTCTAG	0.512																																																	0													88	86	87					6																	52134018		2203	4300	6503	SO:0001583	missense	0			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1834C>A	6.37:g.52134018G>T	ENSP00000229854:p.Pro612Thr		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3	p.P657T	ENST00000229854.7	37	c.1969		6	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395287	0.83011	.	.	ENSG00000112118	ENST00000229854;ENST00000340349;ENST00000419835;ENST00000421471	T;T;T	0.12774	2.65;2.65;2.65	5.4	4.54	0.55810	.	0.102803	0.64402	D	0.000002	T	0.30823	0.0777	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.975;1.0	P;D	0.97110	0.823;1.0	T	0.25916	-1.0118	10	0.87932	D	0	-11.7198	14.1011	0.65056	0.0716:0.0:0.9284:0.0	.	566;612	B4DUQ9;P25205	.;MCM3_HUMAN	T	612;109;566;107	ENSP00000229854:P612T;ENSP00000388647:P566T;ENSP00000407651:P107T	ENSP00000229854:P612T	P	-	1	0	MCM3	52241977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.239000	0.95389	1.509000	0.48786	0.655000	0.94253	CCA	MCM3	-	pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	ENSG00000112118		0.512	MCM3-006	KNOWN	basic|appris_principal	protein_coding	MCM3	HGNC	protein_coding	OTTHUMT00000470784.1	-	0	65	0	G			52134018	-1	tier1	-	no_errors	ENST00000596288	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	52134018	G	T	52134018	3	4	35	1	0	0	0	0	1	0	0	0	9425	1174	41	3	612	3	MCM3	6	52134018	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	11773883	52134018	118981049	68	8427											
PRIM2	5558	genome.wustl.edu	37	chr6	57512478	57512478	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttcctttacaggtgggtGattgtggcttttctttgaat	5	19	10	7	0	1	2	0	2	1	0	3	2	3	2	2	3	1	1	2	3	2	7			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:57512478G>A	ENST00000389488.2	+	0	1393				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ACAGGTGGGTGATTGTGGCTT	0.318																																																	0													208	174	185					6																	57512478		1924	4141	6065	SO:0001624	3_prime_UTR_variant	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1390G>A	6.37:g.57512478G>A			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-	ENSG00000146143		0.318	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	-	0	110	0	G	NM_000947		57512478	1	tier1	-	no_errors	ENST00000389488	ensembl	human	known	74_37	rna	11.03	121	15	SNP	1.000	A	A	57512478	G	A	57512478	1	1	35	0	1	0	0	0	0	0	0	0	12533	1290	45	3		3	PRIM2	6	57512478	3'UTR	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5378460	57512478	113602589	69	8428											
BAI3	577	genome.wustl.edu	37	chr6	69653738	69653738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtacacggagtatgggaGgaatggtcaccatggagttt	12	9	14	6	1	1	0	1	0	0	0	1	4	1	4	1	5	1	3	1	5	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:69653738G>T	ENST00000370598.1	+	6	1868	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	349	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GAGTATGGGAGGAATGGTCAC	0.398																																																	0													223	183	196					6																	69653738		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1047G>T	6.37:g.69653738G>T	ENSP00000359630:p.Glu349Asp		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E349D	ENST00000370598.1	37	c.1047	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549888	0.27652	.	.	ENSG00000135298	ENST00000370598	T	0.60548	0.18	5.16	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	N	0.12746	0.255	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.26503	-1.0101	10	0.12430	T	0.62	.	11.6607	0.51345	0.1474:0.0:0.8526:0.0	.	349	O60242	BAI3_HUMAN	D	349	ENSP00000359630:E349D	ENSP00000359630:E349D	E	+	3	2	BAI3	69710459	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.774000	0.47694	1.391000	0.46566	0.650000	0.86243	GAG	BAI3	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000135298		0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	58	0	G			69653738	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T	T	69653738	G	T	69653738	3	4	35	1	0	0	0	0	1	0	0	0	1301	991	35	3	1061	3	BAI3	6	69653738	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	12141260	69653738	101461329	70	8429											
FILIP1	27145	genome.wustl.edu	37	chr6	76063299	76063299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgaagtcgtcgctcttGttcatgtagtcagtgtgttt	5	18	12	6	2	3	1	2	1	1	0	5	1	3	1	0	1	0	4	0	1	2	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:76063299G>T	ENST00000237172.7	-	4	915	c.585C>A	c.(583-585)aaC>aaA	p.N195K	FILIP1_ENST00000370020.1_Missense_Mutation_p.N96K|FILIP1_ENST00000393004.2_Missense_Mutation_p.N195K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	195										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CGTCGCTCTTGTTCATGTAGT	0.532																																																	0													254	226	235					6																	76063299		2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.585C>A	6.37:g.76063299G>T	ENSP00000237172:p.Asn195Lys		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.N195K	ENST00000237172.7	37	c.585	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417632	0.42918	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.38887	1.11;1.11;1.11	5.79	5.79	0.91817	Cortactin-binding protein-2, N-terminal (1);	0.140446	0.64402	D	0.000006	T	0.15262	0.0368	N	0.15975	0.35	0.80722	D	1	P;B;B	0.43938	0.822;0.013;0.011	B;B;B	0.40825	0.341;0.014;0.008	T	0.06110	-1.0845	10	0.06625	T	0.88	-17.6189	20.0366	0.97561	0.0:0.0:1.0:0.0	.	195;195;195	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	195;195;96	ENSP00000376728:N195K;ENSP00000237172:N195K;ENSP00000359037:N96K	ENSP00000237172:N195K	N	-	3	2	FILIP1	76120019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.519000	0.73768	2.736000	0.93811	0.561000	0.74099	AAC	FILIP1	-	pfam_Cortactin-binding_p2_N	ENSG00000118407		0.532	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0	32	0	G	XM_029179		76063299	-1	tier1	-	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	76063299	G	T	76063299	3	4	35	1	0	0	0	0	1	0	0	0	5916	1368	48	3	3068	3	FILIP1	6	76063299	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	6409561	76063299	95051768	71	8430											
BCKDHB	594	genome.wustl.edu	37	chr6	80878608	80878608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagattgttaatgaagctgCcaagtatcgctatcgctctg	10	13	9	9	2	2	2	1	1	1	1	4	2	2	2	1	0	2	5	1	0	5	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:80878608C>T	ENST00000320393.6	+	5	541	c.494C>T	c.(493-495)gCc>gTc	p.A165V	BCKDHB_ENST00000369760.4_Missense_Mutation_p.A165V|BCKDHB_ENST00000356489.5_Missense_Mutation_p.A165V|BCKDHB_ENST00000545529.1_Missense_Mutation_p.A165V	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	165					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		AATGAAGCTGCCAAGTATCGC	0.517																																																	0													166	157	160					6																	80878608		2203	4300	6503	SO:0001583	missense	0			M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"maple syrup urine disease"	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.494C>T	6.37:g.80878608C>T	ENSP00000318351:p.Ala165Val		Q5T2J3|Q9BQL0	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.A165V	ENST00000320393.6	37	c.494	CCDS4994.1	6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871548	0.91587	.	.	ENSG00000083123	ENST00000369760;ENST00000320393;ENST00000356489;ENST00000545529;ENST00000541767	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	5.1	5.1	0.69264	Transketolase-like, pyrimidine-binding domain (2);	0.092868	0.85682	D	0.000000	D	0.98548	0.9515	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.99850	1.1070	10	0.87932	D	0	-2.5005	17.5522	0.87879	0.0:1.0:0.0:0.0	.	165	P21953	ODBB_HUMAN	V	165;165;165;165;95	ENSP00000358775:A165V;ENSP00000318351:A165V;ENSP00000348880:A165V;ENSP00000443564:A165V	ENSP00000318351:A165V	A	+	2	0	BCKDHB	80935327	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.399000	0.79935	2.372000	0.80975	0.579000	0.79373	GCC	BCKDHB	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000083123		0.517	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHB	HGNC	protein_coding	OTTHUMT00000043911.2	-	0	101	0	C	NM_000056		80878608	1	tier1	-	no_errors	ENST00000320393	ensembl	human	known	74_37	missense	50.35	70	71	SNP	1.000	T	T	80878608	C	T	80878608	3	4	35	1	0	0	0	0	1	0	0	0	1361	739	26	3	512	3	BCKDHB	6	80878608	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	4815309	80878608	90236459	72	8431											
MDN1	23195	genome.wustl.edu	37	chr6	90384069	90384069	+	Frame_Shift_Del	DEL	A	A	-																															tgctaagttctggtccttccAggcaggggccaggaggctgc																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:90384069delA	ENST00000369393.3	-	79	13116	c.13001delT	c.(13000-13002)ctgfs	p.L4334fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.L4334fs|MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4334					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGTCCTTCCAGGCAGGGGCC	0.577																																																	0													87	81	83					6																	90384069		2203	4300	6503	SO:0001589	frameshift_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13001delT	6.37:g.90384069delA	ENSP00000358400:p.Leu4334fs		O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L4334fs	ENST00000369393.3	37	c.13001	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.577	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	28	0	A			90384069	-1			no_errors	ENST00000369393	ensembl	human	known	74_37	frame_shift_del	10.91	49	6	DEL	0.011	0	-	90384069	A	-	90384069	7	5	35	1	0	1	0	1	0	0	0	0	9453	188	7	0	3885	0	MDN1	6	90384069	Frame_Shift_Del	DEL	A	TCGA-JY-A6FA-01A-11D-A33E-09	9505461	90384069	80730998	73	8432											
PRDM1	639	genome.wustl.edu	37	chr6	106553478	106553478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccggaggttgctccagccGgagcatcccagggaggtgct	6	6	16	13	2	0	0	0	0	0	0	2	3	2	3	4	5	4	4	4	5	0	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:106553478G>A	ENST00000369096.4	+	5	1677	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	PRDM1_ENST00000369089.3_Silent_p.P347P|PRDM1_ENST00000369091.2_Silent_p.P445P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	481					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E446fs*30(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGCTCCAGCCGGAGCATCCCA	0.677			"D, N, Mis, F, S"		DLBCL																																			Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											37	46	43					6																	106553478		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1443G>A	6.37:g.106553478G>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.P481	ENST00000369096.4	37	c.1443	CCDS5054.2	6																																																																																			PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.677	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	-	0	51	0	G			106553478	1	tier1	-	no_errors	ENST00000369096	ensembl	human	known	74_37	silent	73.53	9	25	SNP	0.000	A	A	106553478	G	A	106553478	2	1	35	1	0	0	0	0	0	0	0	1	12492	1103	39	1		1	PRDM1	6	106553478	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	16169409	106553478	64561589	74	8433											
ENPP3	5169	genome.wustl.edu	37	chr6	132059220	132059220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttataaaacatgccacagaAagaaatggagtaaatgtggt	18	9	9	5	0	0	2	0	0	0	2	0	3	0	3	1	2	2	1	1	2	7	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:132059220A>G	ENST00000414305.1	+	24	2545	c.2217A>G	c.(2215-2217)gaA>gaG	p.E739E	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.E739E			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	739	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ATGCCACAGAAAGAAATGGAG	0.313																																																	0													114	124	121					6																	132059220		2202	4298	6500	SO:0001819	synonymous_variant	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2217A>G	6.37:g.132059220A>G			Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.E739	ENST00000414305.1	37	c.2217	CCDS5148.1	6																																																																																			ENPP3	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000154269		0.313	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	-	0	90	0	A			132059220	1	tier1	-	no_errors	ENST00000357639	ensembl	human	known	74_37	silent	36.72	81	47	SNP	0.997	G	G	132059220	A	G	132059220	2	3	35	1	0	0	0	0	0	0	0	1	5147	11	1	4		4	ENPP3	6	132059220	Silent	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	25505742	132059220	39055847	75	8434											
EYA4	2070	genome.wustl.edu	37	chr6	133849873	133849873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccacacagcacaacatgcCcttctggaggatatccagtc	13	7	7	14	0	1	0	0	0	1	0	3	2	2	2	3	2	4	1	3	2	3	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:133849873C>T	ENST00000367895.5	+	20	2314	c.1850C>T	c.(1849-1851)cCc>cTc	p.P617L	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.P617L|EYA4_ENST00000531901.1_Missense_Mutation_p.P623L|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000452339.2_Missense_Mutation_p.P563L|EYA4_ENST00000355167.3_Missense_Mutation_p.P617L|EYA4_ENST00000355286.6_Missense_Mutation_p.P594L|EYA4_ENST00000525849.1_Missense_Mutation_p.P594L	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	617					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.P617H(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CACAACATGCCCTTCTGGAGG	0.483																																					Melanoma(57;398 1237 3528 4702 7415)												2	Substitution - Missense(2)	lung(2)											303	281	289					6																	133849873		2203	4300	6503	SO:0001583	missense	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1850C>T	6.37:g.133849873C>T	ENSP00000356870:p.Pro617Leu		B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.P617L	ENST00000367895.5	37	c.1850	CCDS5165.1	6	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436045	0.83885	.	.	ENSG00000112319	ENST00000452339;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	6.07	6.07	0.98685	EYA (1);	0.000000	0.85682	D	0.000000	D	0.98131	0.9383	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.98168	1.0450	10	0.87932	D	0	-15.0494	20.6593	0.99626	0.0:1.0:0.0:0.0	.	623;563;594;617;617	F2Z2Y1;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;EYA4_HUMAN	L	563;617;617;594;623;594;617	ENSP00000395916:P563L;ENSP00000356870:P617L;ENSP00000347294:P617L;ENSP00000347434:P594L;ENSP00000432770:P623L;ENSP00000433219:P594L;ENSP00000404558:P617L	ENSP00000347294:P617L	P	+	2	0	EYA4	133891566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CCC	EYA4	-	superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000112319		0.483	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2		0	24	0	C	NM_004100		133849873	1			no_errors	ENST00000355167	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	133849873	C	T	133849873	3	4	35	1	0	0	0	0	1	0	0	0	5347	623	22	3	2029	3	EYA4	6	133849873	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	1790653	133849873	37265194	76	8435											
GRM1	2911	genome.wustl.edu	37	chr6	146708117	146708117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcacctgcaaagcttGtgacttgggatggtggccca	8	11	13	9	0	1	2	1	2	0	0	1	3	1	3	2	3	2	3	2	3	1	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:146708117G>T	ENST00000282753.1	+	6	1929	c.1694G>T	c.(1693-1695)tGt>tTt	p.C565F	GRM1_ENST00000355289.4_Missense_Mutation_p.C565F|GRM1_ENST00000361719.2_Missense_Mutation_p.C565F|GRM1_ENST00000507907.1_Missense_Mutation_p.C565F|GRM1_ENST00000492807.2_Missense_Mutation_p.C565F|GRM1_ENST00000392299.2_Missense_Mutation_p.C565F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	565					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGCAAAGCTTGTGACTTGGGA	0.473																																																	0													181	169	173					6																	146708117		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1694G>T	6.37:g.146708117G>T	ENSP00000282753:p.Cys565Phe		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.C565F	ENST00000282753.1	37	c.1694	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499836	0.85176	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.42	5.42	0.78866	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.99;0.983;0.994	D	0.99737	1.1014	10	0.87932	D	0	.	18.8113	0.92058	0.0:0.0:1.0:0.0	.	565;565;565	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	F	565	ENSP00000354896:C565F;ENSP00000376119:C565F;ENSP00000424095:C565F;ENSP00000282753:C565F;ENSP00000347437:C565F;ENSP00000425599:C565F	ENSP00000282753:C565F	C	+	2	0	GRM1	146749810	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	9.132000	0.94455	2.517000	0.84864	0.585000	0.79938	TGT	GRM1	-	pfam_GPCR_3_9-Cys_dom	ENSG00000152822		0.473	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	88	0	G	NM_000838		146708117	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	16.07	94	18	SNP	1.000	T	T	146708117	G	T	146708117	3	4	35	1	0	0	0	0	1	0	0	0	6823	1377	48	3	1716	3	GRM1	6	146708117	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	12858244	146708117	24406950	77	8436											
TULP4	56995	genome.wustl.edu	37	chr6	158735106	158735106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgattccaacatcctgtgcCtgtcctggaaggggcgtgtc	6	10	13	12	2	0	0	0	0	0	0	4	2	3	1	4	3	2	0	4	3	2	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr6:158735106C>T	ENST00000367097.3	+	1	1415	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	TULP4_ENST00000367094.2_Silent_p.L20L|RP11-732M18.3_ENST00000432358.1_lincRNA	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	20					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CATCCTGTGCCTGTCCTGGAA	0.517																																																	0													91	83	86					6																	158735106		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.58C>T	6.37:g.158735106C>T			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L20	ENST00000367097.3	37	c.58	CCDS34561.1	6																																																																																			TULP4	-	superfamily_WD40_repeat_dom	ENSG00000130338		0.517	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0	38	0	C	NM_020245		158735106	1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	37.84	23	14	SNP	1.000	T	T	158735106	C	T	158735106	2	4	35	1	0	0	0	0	0	0	0	1	16825	680	24	3		3	TULP4	6	158735106	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	12026989	158735106	12379961	78	8437											
CARD11	84433	genome.wustl.edu	37	chr7	2968322	2968323	+	Frame_Shift_Ins	INS	-	-	G																															catgatgctgctgcggctccINSgggggggctgcttcagacac																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr7:2968322_2968323insG	ENST00000396946.4	-	13	2066_2067	c.1663_1664insC	c.(1663-1665)cggfs	p.R555fs		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	555					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R548L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTGCGGCTCCGGGGGGGCTGC	0.589			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1664dupC	7.37:g.2968329_2968329dupG	ENSP00000380150:p.Arg555fs		A4D1Z7|Q2NKN7|Q548H3	Frame_Shift_Ins	INS	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.R555fs	ENST00000396946.4	37	c.1664_1663	CCDS5336.2	7																																																																																			CARD11	-	NULL	ENSG00000198286		0.589	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4		0	51	0	-	NM_032415		2968323	-1	tier1		no_errors	ENST00000396946	ensembl	human	known	74_37	frame_shift_ins	14.86	126	22	INS	0.395:0.080	G	G	2968323	-	G	2968322	7	5	35	1	0	1	1	0	0	0	0	0	2652	652	23	0	1852	0	CARD11	7	2968322	Frame_Shift_Ins	INS	-	TCGA-JY-A6FA-01A-11D-A33E-09		2968322	156170341	79	8438											
TNRC18	84629	genome.wustl.edu	37	chr7	5414008	5414008	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggcttccgcggcagcagCccggggccggcggtggccag	3	3	21	14	5	0	0	0	0	0	0	1	0	1	0	4	8	2	3	4	8	0	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr7:5414008C>A	ENST00000430969.1	-	10	3255	c.2907G>T	c.(2905-2907)ggG>ggT	p.G969G	TNRC18_ENST00000399537.4_Silent_p.G969G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	969	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCGGCAGCAGCCCGGGGCCGG	0.761																																																	0													2	3	2					7																	5414008		1205	2780	3985	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2907G>T	7.37:g.5414008C>A			A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G969	ENST00000430969.1	37	c.2907	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.761	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding			0	17	0	C			5414008	-1			no_errors	ENST00000399537	ensembl	human	known	74_37	silent	13.89	31	5	SNP	0.994	A	A	5414008	C	A	5414008	2	1	35	1	0	0	0	0	0	0	0	1	16386	726	26	3		3	TNRC18	7	5414008	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	2445686	5414008	153724655	80	8439											
ABCB5	340273	genome.wustl.edu	37	chr7	20744391	20744391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaacagcacaggaggcttGacaacaatattagccataga	18	6	9	8	0	0	2	0	1	0	1	0	4	0	3	1	2	4	2	1	2	7	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr7:20744391G>C	ENST00000404938.2	+	20	3034	c.2382G>C	c.(2380-2382)ttG>ttC	p.L794F	ABCB5_ENST00000258738.6_Missense_Mutation_p.L349F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	794	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGGAGGCTTGACAACAATAT	0.333																																																	0													152	143	146					7																	20744391		2203	4300	6503	SO:0001583	missense	0			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2382G>C	7.37:g.20744391G>C	ENSP00000384881:p.Leu794Phe		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L349F	ENST00000404938.2	37	c.1047	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769337	0.31320	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.93811	-3.29;-3.29	4.66	0.367	0.16140	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.46145	D	0.000317	D	0.96769	0.8945	H	0.94964	3.605	0.39778	D	0.972258	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95277	0.8382	10	0.87932	D	0	.	7.941	0.29959	0.4379:0.0:0.5621:0.0	.	794;349	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	F	794;349	ENSP00000384881:L794F;ENSP00000258738:L349F	ENSP00000258738:L349F	L	+	3	2	ABCB5	20710916	1.000000	0.71417	0.998000	0.56505	0.147000	0.21601	0.847000	0.27696	0.172000	0.19760	0.462000	0.41574	TTG	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000004846		0.333	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	-	0	25	0	G	NM_178559		20744391	1	tier1	-	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	23.53	52	16	SNP	0.998	C	C	20744391	G	C	20744391	3	2	35	1	0	0	0	0	1	0	0	0	44	1281	45	5	2497	5	ABCB5	7	20744391	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	15330383	20744391	138394272	81	8440											
KRIT1	889	genome.wustl.edu	37	chr7	91851268	91851268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttagaaaaagctgaGgtgtttccctttgaggatcc	9	14	9	9	0	2	3	0	2	2	1	4	4	4	4	2	2	1	2	2	2	3	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr7:91851268G>A	ENST00000340022.2	-	14	2529	c.1511C>T	c.(1510-1512)cCt>cTt	p.P504L	KRIT1_ENST00000394503.2_Missense_Mutation_p.P456L|KRIT1_ENST00000394505.2_Missense_Mutation_p.P504L|KRIT1_ENST00000412043.2_Missense_Mutation_p.P504L|KRIT1_ENST00000394507.1_Missense_Mutation_p.P504L	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	504	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAAGCTGAGGTGTTTCCCT	0.383																																																	0													91	90	90					7																	91851268		2203	4300	6503	SO:0001583	missense	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1511C>T	7.37:g.91851268G>A	ENSP00000344668:p.Pro504Leu		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.P504L	ENST00000340022.2	37	c.1511	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002458	0.74932	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227	T;T;T;T;D	0.84730	-0.62;-0.62;-0.62;-0.62;-1.89	5.62	5.62	0.85841	Band 4.1 domain (1);FERM domain (1);	0.177014	0.50627	D	0.000116	D	0.85414	0.5691	M	0.67397	2.05	0.80722	D	1	B;P;B	0.39883	0.115;0.693;0.115	B;B;B	0.37387	0.076;0.248;0.076	D	0.87086	0.2169	10	0.87932	D	0	-1.0832	19.6508	0.95805	0.0:0.0:1.0:0.0	.	504;456;504	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	L	504;504;504;504;456;504	ENSP00000378015:P504L;ENSP00000344668:P504L;ENSP00000410909:P504L;ENSP00000378013:P504L;ENSP00000378011:P456L	ENSP00000344668:P504L	P	-	2	0	KRIT1	91689204	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.220000	0.95180	2.650000	0.89964	0.471000	0.43371	CCT	KRIT1	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000001631		0.383	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1	-	0	92	0	G			91851268	-1	tier1	-	no_errors	ENST00000340022	ensembl	human	known	74_37	missense	22.63	147	43	SNP	1.000	A	A	91851268	G	A	91851268	3	1	35	1	0	0	0	0	1	0	0	0	8472	1000	35	3	723	3	KRIT1	7	91851268	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	71106877	91851268	67287395	82	8441											
OR2F2	135948	genome.wustl.edu	37	chr7	143633228	143633228	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagaggtgaagggggcctgGcataaactattagagaaatt	16	8	13	4	0	0	3	0	1	0	2	0	4	0	3	1	4	1	1	1	4	7	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr7:143633228G>A	ENST00000408955.2	+	1	970	c.903G>A	c.(901-903)tgG>tgA	p.W301*		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGGGGGCCTGGCATAAACTAT	0.418																																																	0													51	51	51					7																	143633228		2027	4227	6254	SO:0001587	stop_gained	0				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"GPCR / Class A : Olfactory receptors"	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.903G>A	7.37:g.143633228G>A	ENSP00000386222:p.Trp301*		A4D2G0|Q6IFP8	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W301*	ENST00000408955.2	37	c.903	CCDS43666.1	7	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585839	0.28268	.	.	ENSG00000221910	ENST00000408955	.	.	.	3.78	0.926	0.19430	.	0.000000	0.45361	D	0.000368	.	.	.	.	.	.	0.40535	D	0.980961	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-12.1698	3.2394	0.06776	0.2284:0.0:0.565:0.2066	.	.	.	.	X	301	.	ENSP00000386222:W301X	W	+	3	0	OR2F2	143264161	0.200000	0.23398	0.049000	0.19019	0.201000	0.24016	1.404000	0.34623	0.068000	0.16574	0.491000	0.48974	TGG	OR2F2	-	NULL	ENSG00000221910		0.418	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F2	HGNC	protein_coding	OTTHUMT00000349570.1		0	33	0	G			143633228	1			no_errors	ENST00000408955	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	0.697	A	A	143633228	G	A	143633228	4	1	35	1	0	0	0	0	0	1	0	0	11036	1212	42	3	905	3	OR2F2	7	143633228	Nonsense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	51781960	143633228	15505435	83	8442											
MYOM2	9172	genome.wustl.edu	37	chr8	2046754	2046754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaacctggccggcatcgGggagccctcagatcccagtg	7	6	13	15	3	2	1	2	0	0	1	4	2	3	2	4	4	2	1	4	4	1	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:2046754G>T	ENST00000262113.4	+	19	2522	c.2381G>T	c.(2380-2382)gGg>gTg	p.G794V	MYOM2_ENST00000523438.1_Missense_Mutation_p.G219V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	794	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCCGGCATCGGGGAGCCCTCA	0.577																																																	0													31	29	30					8																	2046754		2203	4300	6503	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2381G>T	8.37:g.2046754G>T	ENSP00000262113:p.Gly794Val		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G794V	ENST00000262113.4	37	c.2381	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909888	0.72983	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.66995	-0.24;-0.24	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92216	0.5780	10	0.87932	D	0	.	19.3978	0.94614	0.0:0.0:1.0:0.0	.	794	P54296	MYOM2_HUMAN	V	794;219	ENSP00000262113:G794V;ENSP00000428396:G219V	ENSP00000262113:G794V	G	+	2	0	MYOM2	2034161	1.000000	0.71417	0.970000	0.41538	0.250000	0.25880	9.119000	0.94362	2.583000	0.87209	0.561000	0.74099	GGG	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000036448		0.577	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	80	0	G	NM_003970		2046754	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	2046754	G	T	2046754	3	4	35	1	0	0	0	0	1	0	0	0	10130	1232	43	3	2451	3	MYOM2	8	2046754	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		2046754	144317268	84	8443											
SOX7	83595	genome.wustl.edu	37	chr8	10584106	10584106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtcctgcatgtgctgCaggcgcagccgctccgcctc	4	8	14	15	3	0	0	0	0	0	0	3	0	2	0	4	2	4	6	4	2	1	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:10584106C>T	ENST00000304501.1	-	2	387	c.309G>A	c.(307-309)ctG>ctA	p.L103L	CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000553390.1_Silent_p.L155L|SOX7_ENST00000554914.1_Silent_p.L155L|CTD-2135J3.3_ENST00000506149.2_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	103					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GCATGTGCTGCAGGCGCAGCC	0.642																																																	0													43	47	46					8																	10584106		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"SRY (sex determining region Y)-boxes"	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.309G>A	8.37:g.10584106C>T			B4DKV0|Q53YD0	Silent	SNP	pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom	p.L155	ENST00000304501.1	37	c.465	CCDS5977.1	8																																																																																			SOX7	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000171056		0.642	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX7	HGNC	protein_coding	OTTHUMT00000207131.1	-	0	37	0	C			10584106	-1	tier1	-	no_errors	ENST00000553390	ensembl	human	known	74_37	silent	15.00	17	3	SNP	1.000	T	T	10584106	C	T	10584106	2	4	35	1	0	0	0	0	0	0	0	1	15001	697	25	3		3	SOX7	8	10584106	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	8537352	10584106	135779916	85	8444											
NEFM	4741	genome.wustl.edu	37	chr8	24776021	24776021	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcactcaaaaggttgaaGagcatgaagagacctttgag	14	8	11	8	1	2	5	2	3	0	2	2	6	2	5	2	1	1	2	2	1	4	2	rs150229714		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:24776021G>T	ENST00000221166.5	+	3	3435	c.2653G>T	c.(2653-2655)Gag>Tag	p.E885*	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000433454.2_Nonsense_Mutation_p.E509*|NEFM_ENST00000437366.2_Nonsense_Mutation_p.E846*|NEFM_ENST00000518131.1_Nonsense_Mutation_p.E667*			P07197	NFM_HUMAN	neurofilament, medium polypeptide	885	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGGTTGAAGAGCATGAAGA	0.428																																																	0													102	103	103					8																	24776021		2203	4300	6503	SO:0001587	stop_gained	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2653G>T	8.37:g.24776021G>T	ENSP00000221166:p.Glu885*		B4DGN2|E9PBF7|Q4QRK6	Nonsense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.E885*	ENST00000221166.5	37	c.2653	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	38	6.669636	0.97751	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	.	.	.	5.0	3.2	0.36748	.	0.000000	0.45361	D	0.000371	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.4869	0.44729	0.0735:0.1341:0.7925:0.0	.	.	.	.	X	885;667;846;509	.	ENSP00000221166:E885X	E	+	1	0	NEFM	24831926	1.000000	0.71417	0.999000	0.59377	0.634000	0.38068	6.254000	0.72460	0.522000	0.28464	-0.373000	0.07131	GAG	NEFM	-	NULL	ENSG00000104722		0.428	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2		0	44	0	G	NM_005382		24776021	1			no_errors	ENST00000221166	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	T	T	24776021	G	T	24776021	4	4	35	1	0	0	0	0	0	1	0	0	10355	943	33	3	2663	3	NEFM	8	24776021	Nonsense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	14191915	24776021	121588001	86	8445											
CHRNA2	1135	genome.wustl.edu	37	chr8	27320896	27320896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgggtgctgggggagCggtggtgcacattgagcacg	5	9	21	6	2	0	1	0	1	0	0	0	2	0	2	0	6	4	3	0	6	0	1	rs368791756		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:27320896C>T	ENST00000520933.2	-	5	1217	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R340H|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R355H			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	355					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GCTGGGGGAGCGGTGGTGCAC	0.647																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	90	75	80		1064	4.9	1	8		80	0,8600		0,0,4300	no	missense	CHRNA2	NM_000742.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	355/530	27320896	1,13005	2203	4300	6503	SO:0001583	missense	0			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.1064G>A	8.37:g.27320896C>T	ENSP00000429616:p.Arg355His		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R355H	ENST00000520933.2	37	c.1064	CCDS6059.1	8	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844230	0.91197	2.27E-4	0.0	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	D;D;D	0.88741	-2.42;-2.42;-2.42	4.88	4.88	0.63580	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95786	0.8821	10	0.87932	D	0	.	15.5505	0.76148	0.0:1.0:0.0:0.0	.	340;355	B4DK19;Q15822	.;ACHA2_HUMAN	H	355;355;340	ENSP00000385026:R355H;ENSP00000429616:R355H;ENSP00000240132:R340H	ENSP00000240132:R340H	R	-	2	0	CHRNA2	27376813	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.533000	0.85409	0.561000	0.74099	CGC	CHRNA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000120903		0.647	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA2	HGNC	protein_coding	OTTHUMT00000376125.4	-	0	28	0	C			27320896	-1	tier1	-	no_errors	ENST00000407991	ensembl	human	known	74_37	missense	80.00	3	12	SNP	1.000	T	T	27320896	C	T	27320896	3	4	35	1	0	0	0	0	1	0	0	0	3390	768	27	1	533	1	CHRNA2	8	27320896	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	2544875	27320896	119043126	87	8446											
UNC5D	137970	genome.wustl.edu	37	chr8	35631843	35631843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaaccatcactttcttCgcacaagaggacagcacttt	13	9	7	12	2	2	2	1	0	1	2	3	4	2	3	1	1	2	2	1	1	2	3	rs545516301		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:35631843C>A	ENST00000404895.2	+	16	2833	c.2505C>A	c.(2503-2505)ttC>ttA	p.F835L	UNC5D_ENST00000420357.1_Missense_Mutation_p.F768L|UNC5D_ENST00000287272.2_Missense_Mutation_p.F766L|UNC5D_ENST00000453357.2_Missense_Mutation_p.F830L|UNC5D_ENST00000449677.1_Missense_Mutation_p.F411L|UNC5D_ENST00000416672.1_Missense_Mutation_p.F840L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	835					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCACTTTCTTCGCACAAGAGG	0.433																																																	0													137	132	134					8																	35631843		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2505C>A	8.37:g.35631843C>A	ENSP00000385143:p.Phe835Leu		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.F835L	ENST00000404895.2	37	c.2505	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	c	3.186	-0.166861	0.06461	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.49720	0.8;1.25;1.25;0.8;0.77;2.72	5.95	0.84	0.18912	.	0.094996	0.85682	D	0.000000	T	0.27765	0.0683	N	0.20986	0.625	0.46203	D	0.998924	B;B;B	0.21905	0.053;0.062;0.037	B;B;B	0.24155	0.019;0.051;0.023	T	0.14476	-1.0471	10	0.06625	T	0.88	-10.3903	11.3329	0.49487	0.0:0.1908:0.0:0.8092	.	411;830;835	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	835;768;766;840;830;411	ENSP00000385143:F835L;ENSP00000392739:F768L;ENSP00000287272:F766L;ENSP00000412652:F840L;ENSP00000394303:F830L;ENSP00000397211:F411L	ENSP00000287272:F766L	F	+	3	2	UNC5D	35751385	1.000000	0.71417	0.998000	0.56505	0.459000	0.32528	0.865000	0.27940	-0.056000	0.13221	-2.187000	0.00313	TTC	UNC5D	-	NULL	ENSG00000156687		0.433	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2		0	58	0	C			35631843	1			no_errors	ENST00000404895	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	35631843	C	A	35631843	3	1	35	1	0	0	0	0	1	0	0	0	17044	883	31	2	2567	2	UNC5D	8	35631843	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	8310947	35631843	110732179	88	8447											
PENK	5179	genome.wustl.edu	37	chr8	57354245	57354245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccataccgcttggcgaggatCtcacttccattggcctcttc	6	12	8	15	2	2	0	1	0	2	0	5	2	3	1	4	3	1	1	4	3	1	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:57354245C>G	ENST00000314922.3	-	2	466	c.390G>C	c.(388-390)gaG>gaC	p.E130D	PENK_ENST00000451791.2_Missense_Mutation_p.E130D|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	130					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TGGCGAGGATCTCACTTCCAT	0.502																																																	0													118	107	111					8																	57354245		2203	4300	6503	SO:0001583	missense	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"Endogenous ligands"	8831	protein-coding gene	gene with protein product	"preproenkephalin"	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.390G>C	8.37:g.57354245C>G	ENSP00000324248:p.Glu130Asp		B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept	p.E130D	ENST00000314922.3	37	c.390	CCDS6168.1	8	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831078	0.32329	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.19938	2.11;2.11	5.71	-9.3	0.00649	.	0.186474	0.47455	D	0.000222	T	0.17195	0.0413	L	0.49126	1.545	0.54753	D	0.999981	B	0.25390	0.125	B	0.24701	0.055	T	0.03630	-1.1018	10	0.46703	T	0.11	-29.7905	18.9436	0.92613	0.0:0.7255:0.0857:0.1888	.	130	P01210	PENK_HUMAN	D	130	ENSP00000324248:E130D;ENSP00000400894:E130D	ENSP00000324248:E130D	E	-	3	2	PENK	57516799	0.010000	0.17322	0.001000	0.08648	0.840000	0.47671	-1.477000	0.02331	-1.489000	0.01844	-0.302000	0.09304	GAG	PENK	-	prints_Proenkphlin_A	ENSG00000181195		0.502	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1	-	0	85	0	C			57354245	-1	tier1	-	no_errors	ENST00000314922	ensembl	human	known	74_37	missense	31.11	62	28	SNP	0.000	G	G	57354245	C	G	57354245	3	3	35	1	0	0	0	0	1	0	0	0	11766	912	32	5	417	5	PENK	8	57354245	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	21722402	57354245	89009777	89	8448											
ZFHX4	79776	genome.wustl.edu	37	chr8	77618141	77618141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccagggcctggaggagaCggctcaccgggcagtggcat	9	4	16	12	2	1	1	1	0	0	1	1	3	1	2	3	6	0	3	3	6	0	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:77618141C>T	ENST00000521891.2	+	2	2266	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	ZFHX4_ENST00000050961.6_Silent_p.D606D|ZFHX4_ENST00000455469.2_Silent_p.D606D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.D606D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	606					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D606E(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGGAGGAGACGGCTCACCGG	0.567										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	breast(1)											71	78	76					8																	77618141		2098	4204	6302	SO:0001819	synonymous_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1818C>T	8.37:g.77618141C>T			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D606	ENST00000521891.2	37	c.1818	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.567	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0	35	0	C	NM_024721		77618141	1			no_errors	ENST00000521891	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.013	T	T	77618141	C	T	77618141	2	4	35	1	0	0	0	0	0	0	0	1	17683	535	19	1		1	ZFHX4	8	77618141	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	20263896	77618141	68745881	90	8449											
FER1L6	654463	genome.wustl.edu	37	chr8	124988147	124988147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccctctaaggaaccttttGatccccaatgggtttccact	8	13	6	14	0	1	1	0	1	1	0	4	2	4	2	5	2	1	1	5	2	3	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:124988147G>C	ENST00000522917.1	+	9	899	c.693G>C	c.(691-693)ttG>ttC	p.L231F	FER1L6_ENST00000399018.1_Missense_Mutation_p.L231F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	231	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAACCTTTTGATCCCCAATG	0.433																																																	0													139	128	131					8																	124988147		1840	4092	5932	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.693G>C	8.37:g.124988147G>C	ENSP00000428280:p.Leu231Phe			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.L231F	ENST00000522917.1	37	c.693	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890835	0.52014	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.89681	-2.55;-2.55	6.04	5.16	0.70880	FerIin domain (1);	0.000000	0.53938	U	0.000057	D	0.94318	0.8174	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94545	0.7748	10	0.54805	T	0.06	.	15.0632	0.71970	0.0675:0.0:0.9325:0.0	.	231	Q2WGJ9	FR1L6_HUMAN	F	231	ENSP00000428280:L231F;ENSP00000381982:L231F	ENSP00000381982:L231F	L	+	3	2	FER1L6	125057328	1.000000	0.71417	0.997000	0.53966	0.213000	0.24496	5.731000	0.68554	1.561000	0.49584	0.561000	0.74099	TTG	FER1L6	-	pfam_FerIin-domain	ENSG00000214814		0.433	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	-	0	68	0	G	NM_001039112		124988147	1	tier1	-	no_errors	ENST00000399018	ensembl	human	known	74_37	missense	42.35	49	36	SNP	1.000	C	C	124988147	G	C	124988147	3	2	35	1	0	0	0	0	1	0	0	0	5837	1281	45	5	723	5	FER1L6	8	124988147	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	47370006	124988147	21375875	91	8450											
PHF20L1	51105	genome.wustl.edu	37	chr8	133844636	133844636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctatccgttgatcttaGtggtgaaagtatgtgtaacc	11	15	9	6	1	2	2	0	2	2	0	3	2	3	2	2	1	1	3	2	1	6	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr8:133844636G>T	ENST00000395386.2	+	15	2200	c.1901G>T	c.(1900-1902)aGt>aTt	p.S634I	PHF20L1_ENST00000395390.2_Missense_Mutation_p.S609I|PHF20L1_ENST00000220847.7_Missense_Mutation_p.S21I	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	634							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GTTGATCTTAGTGGTGAAAGT	0.393																																																	0													123	111	115					8																	133844636		1885	4105	5990	SO:0001583	missense	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1901G>T	8.37:g.133844636G>T	ENSP00000378784:p.Ser634Ile		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.S21I	ENST00000395386.2	37	c.62	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066770	0.76301	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	T;T	0.33438	1.41;1.41	5.77	5.77	0.91146	.	0.651897	0.14981	N	0.287274	T	0.43831	0.1265	L	0.44542	1.39	0.41863	D	0.990235	D;D	0.58268	0.982;0.969	P;P	0.58780	0.845;0.704	T	0.04153	-1.0973	10	0.38643	T	0.18	-16.633	14.8889	0.70590	0.0:0.1429:0.8571:0.0	.	609;634	F8W9L8;A8MW92	.;P20L1_HUMAN	I	634;21;609	ENSP00000378784:S634I;ENSP00000378788:S609I	ENSP00000220847:S21I	S	+	2	0	PHF20L1	133913818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.269000	0.65542	2.890000	0.99128	0.650000	0.86243	AGT	PHF20L1	-	NULL	ENSG00000129292		0.393	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	-	0	62	0	G	NM_016018		133844636	1	tier1	-	no_errors	ENST00000220847	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	133844636	G	T	133844636	3	4	35	1	0	0	0	0	1	0	0	0	11871	1029	36	3	2051	3	PHF20L1	8	133844636	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	8856489	133844636	12519386	92	8451											
KDM4C	23081	genome.wustl.edu	37	chr9	6793132	6793132	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgtgcgggtcttgcaaaGgtgattatccttcgatgctt	7	14	11	9	3	1	1	0	1	1	0	4	2	2	1	1	2	3	2	1	2	2	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:6793132G>T	ENST00000381309.3	+	2	709	c.144G>T	c.(142-144)aaG>aaT	p.K48N	KDM4C_ENST00000401787.3_Splice_Site_p.K48N|KDM4C_ENST00000381306.3_Splice_Site_p.K48N|KDM4C_ENST00000442236.2_5'UTR|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Splice_Site_p.K70N|KDM4C_ENST00000543771.1_Splice_Site_p.K48N|KDM4C_ENST00000536108.1_5'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	48	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTCTTGCAAAGGTGATTATCC	0.408																																																	0													76	73	74					9																	6793132		2203	4300	6503	SO:0001630	splice_region_variant	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.144+1G>T	9.37:g.6793132G>T			B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.K48N	ENST00000381309.3	37	c.144	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805636	0.70682	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.58	5.58	0.84498	Transcription factor jumonji, JmjN (3);	0.000000	0.85682	D	0.000000	D	0.83348	0.5235	H	0.94925	3.6	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.996;0.996;0.997;0.999;0.998	D	0.87842	0.2652	10	0.87932	D	0	-9.181	18.3414	0.90307	0.0:0.0:1.0:0.0	.	48;48;48;70;48;48	F5H347;B4E1Y4;B0QZ60;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	N	70;48;48;48;48	ENSP00000442382:K70N;ENSP00000445427:K48N;ENSP00000383990:K48N;ENSP00000370710:K48N;ENSP00000370707:K48N	ENSP00000370707:K48N	K	+	3	2	KDM4C	6783132	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	6.978000	0.76147	2.597000	0.87782	0.655000	0.94253	AAG	KDM4C	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN	ENSG00000107077		0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	-	0	75	0	G	NM_015061	Missense_Mutation	6793132	1	tier1	-	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	T	T	6793132	G	T	6793132	5	4	35	1	0	0	0	0	0	0	1	0	8157	1014	35	3	216	3	KDM4C	9	6793132	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		6793132	134420299	93	8452											
TTC39B	158219	genome.wustl.edu	37	chr9	15307166	15307166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaaaccaagcagggaaCtcagagccgactcctgctct	13	5	8	15	1	2	1	1	0	1	1	3	3	3	2	4	1	5	2	4	1	4	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:15307166C>G	ENST00000512701.2	-	1	192	c.156G>C	c.(154-156)gaG>gaC	p.E52D	TTC39B_ENST00000297615.5_Missense_Mutation_p.E52D|TTC39B_ENST00000541445.1_5'UTR|TTC39B_ENST00000355694.2_5'UTR|TTC39B_ENST00000380850.4_Missense_Mutation_p.E52D			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	52										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						AAGCAGGGAACTCAGAGCCGA	0.667																																																	0													24	23	23					9																	15307166		2203	4297	6500	SO:0001583	missense	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.156G>C	9.37:g.15307166C>G	ENSP00000422496:p.Glu52Asp		A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.E52D	ENST00000512701.2	37	c.156	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568014	0.45798	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000512701;ENST00000506891	T;T;T	0.48836	1.47;0.8;1.47	3.93	3.93	0.45458	.	.	.	.	.	T	0.37265	0.0997	N	0.22421	0.69	0.53688	D	0.999975	.	.	.	.	.	.	T	0.07927	-1.0747	7	0.14656	T	0.56	.	11.617	0.51096	0.0:1.0:0.0:0.0	.	.	.	.	D	52;52;52;14	ENSP00000370231:E52D;ENSP00000297615:E52D;ENSP00000422496:E52D	ENSP00000297615:E52D	E	-	3	2	TTC39B	15297166	0.621000	0.27077	0.007000	0.13788	0.052000	0.14988	3.197000	0.51028	2.185000	0.69588	0.313000	0.20887	GAG	TTC39B	-	NULL	ENSG00000155158		0.667	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	-	0	66	0	C	NM_152574		15307166	-1	tier1	-	no_errors	ENST00000512701	ensembl	human	known	74_37	missense	65.22	16	30	SNP	0.009	G	G	15307166	C	G	15307166	3	3	35	1	0	0	0	0	1	0	0	0	16757	564	20	5	1993	5	TTC39B	9	15307166	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	8514034	15307166	125906265	94	8453											
ZBTB5	9925	genome.wustl.edu	37	chr9	37440551	37440551	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagattgctgctctgccaGcgcaggcaggtagtctttga	8	10	14	9	1	2	2	0	1	2	1	2	3	2	3	1	3	4	5	1	3	2	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:37440551G>T	ENST00000307750.4	-	2	2186	c.1998C>A	c.(1996-1998)cgC>cgA	p.R666R		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	666					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TGCTCTGCCAGCGCAGGCAGG	0.498																																																	0													78	74	75					9																	37440551		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.1998C>A	9.37:g.37440551G>T				Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R666	ENST00000307750.4	37	c.1998	CCDS6610.1	9																																																																																			ZBTB5	-	pfscan_Znf_C2H2	ENSG00000168795		0.498	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	-	0	59	0	G	NM_014872		37440551	-1	tier1	-	no_errors	ENST00000307750	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	37440551	G	T	37440551	2	4	35	1	0	0	0	0	0	0	0	1	17599	958	34	3		3	ZBTB5	9	37440551	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	22133385	37440551	103772880	95	8454											
NAA35	60560	genome.wustl.edu	37	chr9	88631475	88631475	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctctctgaattcctttaCgcatggttgatgtcaacatt	9	17	6	9	1	3	2	1	2	2	0	5	2	4	2	1	1	2	2	1	1	4	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:88631475C>A	ENST00000361671.5	+	18	1723	c.1590C>A	c.(1588-1590)taC>taA	p.Y530*		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	530					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AATTCCTTTACGCATGGTTGA	0.373																																																	0													118	109	112					9																	88631475		2203	4300	6503	SO:0001587	stop_gained	0			AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"N(alpha)-acetyltransferase subunits"	24340	protein-coding gene	gene with protein product			"MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1590C>A	9.37:g.88631475C>A	ENSP00000354972:p.Tyr530*		Q5VZE6|Q9H631|Q9H703	Nonsense_Mutation	SNP	pfam_NatC_AcTrfase_Mak10	p.Y530*	ENST00000361671.5	37	c.1590	CCDS6673.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.728400	0.96856	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.4	-1.99	0.07457	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9262	11.7476	0.51830	0.0:0.2526:0.0:0.7474	.	.	.	.	X	530	.	ENSP00000354972:Y530X	Y	+	3	2	NAA35	87821295	0.992000	0.36948	0.994000	0.49952	0.899000	0.52679	0.229000	0.17833	-0.218000	0.10018	-1.671000	0.00744	TAC	NAA35	-	NULL	ENSG00000135040		0.373	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA35	HGNC	protein_coding	OTTHUMT00000052906.1		0	36	0	C	NM_024635		88631475	1			no_errors	ENST00000361671	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.999	A	A	88631475	C	A	88631475	4	1	35	1	0	0	0	0	0	1	0	0	10161	547	19	2	1656	2	NAA35	9	88631475	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	51190924	88631475	52581956	96	8455											
PTCH1	5727	genome.wustl.edu	37	chr9	98278926	98278926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcgctgcgggtctctttGtctcccctgtcgtctttttc	0	19	9	13	3	3	0	0	0	3	0	8	0	3	0	2	1	1	1	2	1	0	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:98278926G>C	ENST00000375274.2	-	1	321	c.177C>G	c.(175-177)gaC>gaG	p.D59E	PTCH1_ENST00000437951.1_5'UTR|PTCH1_ENST00000468211.2_5'UTR|RP11-435O5.4_ENST00000604650.1_RNA|PTCH1_ENST00000430669.2_5'UTR			Q13635	PTC1_HUMAN	patched 1	0					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGTCTCTTTGTCTCCCCTGT	0.547																																																	0													141	138	139					9																	98278926		1904	4109	6013	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000375274.2:c.177C>G	9.37:g.98278926G>C	ENSP00000364423:p.Asp59Glu		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.D59E	ENST00000375274.2	37	c.177	CCDS47995.1	9	.	.	.	.	.	.	.	.	.	.	g	4.915	0.169938	0.09339	.	.	ENSG00000185920	ENST00000375274	D	0.89552	-2.53	2.94	1.9	0.25705	.	.	.	.	.	T	0.77624	0.4158	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68830	-0.5305	8	0.22706	T	0.39	.	4.9972	0.14245	0.0:0.2313:0.5319:0.2368	.	59	Q13635-2	.	E	59	ENSP00000364423:D59E	ENSP00000364423:D59E	D	-	3	2	PTCH1	97318747	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	1.063000	0.30567	1.659000	0.50751	0.299000	0.19835	GAC	PTCH1	-	NULL	ENSG00000185920		0.547	PTCH1-007	KNOWN	basic|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000406923.1	-	0	43	0	G	NM_000264		98278926	-1	tier1	-	no_errors	ENST00000375274	ensembl	human	known	74_37	missense	77.08	11	37	SNP	0.996	C	C	98278926	G	C	98278926	3	2	35	1	0	0	0	0	1	0	0	0	12772	1368	48	5	4467	5	PTCH1	9	98278926	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	9647451	98278926	42934505	97	8456											
TSC1	7248	genome.wustl.edu	37	chr9	135782727	135782727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatggtgttgtctgtgtaGacatggtcttgcagaatcca	10	13	12	6	0	2	3	0	0	2	3	3	3	3	3	1	2	1	3	1	2	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:135782727G>C	ENST00000298552.3	-	13	1515	c.1294C>G	c.(1294-1296)Cta>Gta	p.L432V	TSC1_ENST00000440111.2_Missense_Mutation_p.L432V|TSC1_ENST00000545250.1_Missense_Mutation_p.L381V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	432					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TGTCTGTGTAGACATGGTCTT	0.378			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											150	130	137					9																	135782727		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1294C>G	9.37:g.135782727G>C	ENSP00000298552:p.Leu432Val		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.L432V	ENST00000298552.3	37	c.1294	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358759	0.61403	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.86497	-2.13;-2.13;-2.13	5.44	5.44	0.79542	.	0.138320	0.50627	D	0.000116	D	0.90601	0.7053	L	0.43701	1.375	0.80722	D	1	B;P;D	0.89917	0.327;0.819;1.0	B;B;D	0.91635	0.206;0.429;0.999	D	0.89494	0.3759	10	0.37606	T	0.19	-5.2626	15.9736	0.80040	0.0:0.0:1.0:0.0	.	381;431;432	B7Z897;Q32NF0;Q92574	.;.;TSC1_HUMAN	V	432;432;381	ENSP00000298552:L432V;ENSP00000394524:L432V;ENSP00000444017:L381V	ENSP00000298552:L432V	L	-	1	2	TSC1	134772548	0.927000	0.31430	0.180000	0.23079	0.920000	0.55202	2.244000	0.43124	2.548000	0.85928	0.585000	0.79938	CTA	TSC1	-	pfam_Hamartin	ENSG00000165699		0.378	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0	27	0	G			135782727	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	43.28	38	29	SNP	0.919	C	C	135782727	G	C	135782727	3	2	35	1	0	0	0	0	1	0	0	0	16653	933	33	5	2244	5	TSC1	9	135782727	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	37503801	135782727	5430704	98	8457											
C9orf96	169436	genome.wustl.edu	37	chr9	136260761	136260761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgcggaagtccctccGccagagcccaggcagcctga	8	5	12	16	2	1	2	0	1	1	1	3	3	3	3	5	2	3	2	5	2	1	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:136260761G>A	ENST00000371957.3	+	9	844	c.737G>A	c.(736-738)cGc>cAc	p.R246H	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAGTCCCTCCGCCAGAGCCCA	0.557																																																	0													68	69	68					9																	136260761		2203	4300	6503	SO:0001583	missense	0																														ENST00000371957.3:c.737G>A	9.37:g.136260761G>A	ENSP00000361025:p.Arg246His		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R246H	ENST00000371957.3	37	c.737	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120536	0.37436	.	.	ENSG00000198870	ENST00000371957	T	0.65364	-0.15	4.86	2.96	0.34315	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.081178	0.48767	N	0.000171	T	0.69142	0.3078	M	0.63169	1.94	0.23192	N	0.99814	D	0.69078	0.997	D	0.63192	0.912	T	0.59257	-0.7488	10	0.62326	D	0.03	-31.7113	6.0042	0.19537	0.0992:0.0:0.7132:0.1877	.	246	Q8NE28	SGK71_HUMAN	H	246	ENSP00000361025:R246H	ENSP00000361025:R246H	R	+	2	0	C9orf96	135250582	0.790000	0.28787	0.313000	0.25210	0.117000	0.20001	3.057000	0.49931	0.538000	0.28769	0.462000	0.41574	CGC	C9orf96	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198870		0.557	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	-	0	39	0	G			136260761	1	tier1	-	no_errors	ENST00000371957	ensembl	human	known	74_37	missense	46.43	29	26	SNP	0.127	A	A	136260761	G	A	136260761	3	1	35	1	0	0	0	0	1	0	0	0	2515	1087	38	1	771	1	C9orf96	9	136260761	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	478034	136260761	4952670	99	8458											
QSOX2	169714	genome.wustl.edu	37	chr9	139103122	139103122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcacctgccaggcggcCgttcaccatattatgcttct	6	13	7	15	2	3	0	2	0	2	0	4	0	3	0	4	2	2	2	4	2	2	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:139103122C>T	ENST00000358701.5	-	11	1574	c.1537G>A	c.(1537-1539)Ggc>Agc	p.G513S		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	513	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GCCAGGCGGCCGTTCACCATA	0.617																																																	0													90	76	81					9																	139103122		2203	4300	6503	SO:0001583	missense	0			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"quiescin Q6-like 1"	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1537G>A	9.37:g.139103122C>T	ENSP00000351536:p.Gly513Ser		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.G513S	ENST00000358701.5	37	c.1537	CCDS35178.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.424|2.424	-0.332498|-0.332498	0.05314|0.05314	.|.	.|.	ENSG00000165661|ENSG00000165661	ENST00000358701;ENST00000389471|ENST00000455222	T|.	0.15718|.	2.4|.	4.72|4.72	-0.874|-0.874	0.10631|0.10631	Erv1/Alr (3);ERV/ALR sulphydryl oxidase (1);|.	0.641055|.	0.16933|.	N|.	0.193563|.	T|T	0.07458|0.07458	0.0188|0.0188	N|N	0.00841|0.00841	-1.15|-1.15	0.22989|0.22989	N|N	0.998465|0.998465	B|.	0.15719|.	0.014|.	B|.	0.10450|.	0.005|.	T|T	0.37079|0.37079	-0.9721|-0.9721	10|5	0.09590|.	T|.	0.72|.	-11.4533|-11.4533	4.4231|4.4231	0.11490|0.11490	0.1354:0.2336:0.0:0.631|0.1354:0.2336:0.0:0.631	.|.	513|.	Q6ZRP7|.	QSOX2_HUMAN|.	S|Q	513;312|280	ENSP00000351536:G513S|.	ENSP00000351536:G513S|.	G|R	-|-	1|2	0|0	QSOX2|QSOX2	138242943|138242943	0.965000|0.965000	0.33210|0.33210	0.989000|0.989000	0.46669|0.46669	0.068000|0.068000	0.16541|0.16541	0.181000|0.181000	0.16880|0.16880	-0.010000|-0.010000	0.14271|0.14271	-0.888000|-0.888000	0.02935|0.02935	GGC|CGG	QSOX2	-	pfam_ERV/ALR_sulphydryl_oxidase,superfamily_ERV/ALR_sulphydryl_oxidase	ENSG00000165661		0.617	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	HGNC	protein_coding	OTTHUMT00000055046.2	-	0	43	0	C	NM_181701		139103122	-1	tier1	-	no_errors	ENST00000358701	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.991	T	T	139103122	C	T	139103122	3	4	35	1	0	0	0	0	1	0	0	0	12929	652	23	1	567	1	QSOX2	9	139103122	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	2842361	139103122	2110309	100	8459											
SDCCAG3	10807	genome.wustl.edu	37	chr9	139298600	139298600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtcaggctggcaccctggCcgcaccgcagggcttcattc	5	7	13	16	3	2	0	2	0	0	0	3	0	2	0	3	5	0	5	3	5	0	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr9:139298600C>T	ENST00000357365.3	-	9	1244	c.1115G>A	c.(1114-1116)gGc>gAc	p.G372D	SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.G349D|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.G299D	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	372						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		GGCACCCTGGCCGCACCGCAG	0.632																																																	0													90	99	96					9																	139298600		2002	4153	6155	SO:0001583	missense	0			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.1115G>A	9.37:g.139298600C>T	ENSP00000349929:p.Gly372Asp		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.G372D	ENST00000357365.3	37	c.1115	CCDS43904.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.77|16.77	3.214403|3.214403	0.58452|0.58452	.|.	.|.	ENSG00000165689|ENSG00000165689	ENST00000417512|ENST00000357365;ENST00000298537;ENST00000371725	.|T;T;T	.|0.27720	.|1.65;2.09;1.65	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	.|0.280456	.|0.35407	.|N	.|0.003233	T|T	0.54806|0.54806	0.1881|0.1881	M|M	0.68952|0.68952	2.095|2.095	0.51233|0.51233	D|D	0.999914|0.999914	.|D;D;D	.|0.89917	.|1.0;0.996;0.991	.|D;D;P	.|0.91635	.|0.999;0.941;0.851	T|T	0.59193|0.59193	-0.7500|-0.7500	5|10	.|0.66056	.|D	.|0.02	-9.8055|-9.8055	16.92|16.92	0.86161|0.86161	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|299;349;372	.|Q96C92-4;Q96C92-2;Q96C92	.|.;.;SDCG3_HUMAN	T|D	104|372;349;299	.|ENSP00000349929:G372D;ENSP00000298537:G349D;ENSP00000360790:G299D	.|ENSP00000298537:G349D	A|G	-|-	1|2	0|0	SDCCAG3|SDCCAG3	138418421|138418421	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.038000|0.038000	0.13279|0.13279	4.932000|4.932000	0.63476|0.63476	2.281000|2.281000	0.76405|0.76405	0.655000|0.655000	0.94253|0.94253	GCC|GGC	SDCCAG3	-	NULL	ENSG00000165689		0.632	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	-	0	43	0	C	NM_006643		139298600	-1	tier1	-	no_errors	ENST00000357365	ensembl	human	known	74_37	missense	52.94	16	18	SNP	0.997	T	T	139298600	C	T	139298600	3	4	35	1	0	0	0	0	1	0	0	0	14003	739	26	3	200	3	SDCCAG3	9	139298600	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	195478	139298600	1914831	101	8460											
ITIH5	80760	genome.wustl.edu	37	chr10	7611724	7611724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcagggggaaatccaCaacaaagtggggatcaccat	13	7	11	10	0	3	0	2	0	1	0	4	2	4	2	2	4	2	1	2	4	3	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:7611724C>A	ENST00000256861.6	-	12	2134	c.2056G>T	c.(2056-2058)Gtg>Ttg	p.V686L	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Missense_Mutation_p.V472L|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000446830.2_Missense_Mutation_p.V468L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	686					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGGAAATCCACAACAAAGTGG	0.502																																																	0													53	46	48					10																	7611724		2203	4300	6503	SO:0001583	missense	0					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2056G>T	10.37:g.7611724C>A	ENSP00000256861:p.Val686Leu		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.V686L	ENST00000256861.6	37	c.2056		10	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605008	0.66445	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.03035	4.26;4.07;4.08	5.52	5.52	0.82312	.	0.054130	0.64402	D	0.000001	T	0.12603	0.0306	.	.	.	0.80722	D	1	D;D	0.63880	0.987;0.993	P;P	0.57468	0.666;0.821	T	0.00047	-1.2207	9	0.72032	D	0.01	-29.276	13.1649	0.59565	0.0:0.9168:0.0:0.0832	.	686;472	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	L	686;472;468	ENSP00000256861:V686L;ENSP00000298441:V472L;ENSP00000387969:V468L	ENSP00000256861:V686L	V	-	1	0	ITIH5	7651730	0.997000	0.39634	0.957000	0.39632	0.069000	0.16628	3.520000	0.53465	2.586000	0.87340	0.557000	0.71058	GTG	ITIH5	-	NULL	ENSG00000123243		0.502	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	-	0	45	0	C	NM_030569		7611724	-1	tier1	-	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	30.61	33	15	SNP	0.998	A	A	7611724	C	A	7611724	3	1	35	1	0	0	0	0	1	0	0	0	7934	478	17	3	826	3	ITIH5	10	7611724	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		7611724	127923023	102	8461											
ITIH5	80760	genome.wustl.edu	37	chr10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgccttctgaggccGcacaggcacatctgtcttca	6	12	8	15	1	4	1	1	1	3	0	5	1	5	1	3	2	1	2	3	2	0	3	rs547413516		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587													C|||	1	0.000199681	0	0	5008	,	,		20788	0.001		0	False		,,,				2504	0																0													66	63	64					10																	7618752		2203	4300	6503	SO:0001583	missense	0					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1642C>T	10.37:g.7618752G>A	ENSP00000256861:p.Arg548Trp		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R548W	ENST00000256861.6	37	c.1642		10	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173195	0.78452	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.41	4.47	0.54385	.	0.880038	0.10177	N	0.706378	T	0.17534	0.0421	.	.	.	0.19775	N	0.99995	D;D;D	0.60160	0.961;0.987;0.972	B;B;P	0.45138	0.191;0.28;0.471	T	0.13308	-1.0514	9	0.87932	D	0	-14.6668	11.1572	0.48495	0.1438:0.7182:0.138:0.0	.	548;548;334	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	W	548;548;334;330;548	ENSP00000256861:R548W;ENSP00000380333:R548W;ENSP00000298441:R334W;ENSP00000387969:R330W;ENSP00000380332:R548W	ENSP00000256861:R548W	R	-	1	2	ITIH5	7658758	0.569000	0.26643	0.810000	0.32431	0.029000	0.11900	0.932000	0.28884	1.281000	0.44480	-0.357000	0.07601	CGG	ITIH5	-	NULL	ENSG00000123243		0.587	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	-	0	35	0	G	NM_030569		7618752	-1	tier1	-	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.763	A	A	7618752	G	A	7618752	3	1	35	1	0	0	0	0	1	0	0	0	7934	1086	38	1	1329	1	ITIH5	10	7618752	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	7028	7618752	127915995	103	8462											
NEBL	10529	genome.wustl.edu	37	chr10	21097518	21097518	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatttctgacctgtcgtcTccgagacctgtaccgaaagt	9	11	10	11	3	2	3	0	1	2	2	4	6	2	3	4	0	1	1	4	0	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:21097518T>A	ENST00000377122.4	-	26	3078	c.2682A>T	c.(2680-2682)ggA>ggT	p.G894G	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	894	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCTGTCGTCTCCGAGACCTG	0.458																																																	0													138	128	131					10																	21097518		2203	4300	6503	SO:0001819	synonymous_variant	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2682A>T	10.37:g.21097518T>A			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.G894	ENST00000377122.4	37	c.2682	CCDS7134.1	10																																																																																			NEBL	-	NULL	ENSG00000078114		0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	-	0	63	0	T	NM_006393		21097518	-1	tier1	-	no_errors	ENST00000377122	ensembl	human	known	74_37	silent	50.85	29	30	SNP	0.929	A	A	21097518	T	A	21097518	2	1	35	1	0	0	0	0	0	0	0	1	10342	1538	54	5		5	NEBL	10	21097518	Silent	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	13478766	21097518	114437229	104	8463											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37506700	37506700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattagggaagaattaggaaGaatcgaagagcagcatagga	19	6	13	3	1	0	3	0	0	0	3	1	7	0	6	0	3	2	2	0	3	9	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:37506700G>A	ENST00000602533.1	+	33	3092	c.2993G>A	c.(2992-2994)aGa>aAa	p.R998K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.R1117K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R998K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1054					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATTAGGAAGAATCGAAGAG	0.323																																																	0													63	64	64					10																	37506700		1811	4064	5875	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2993G>A	10.37:g.37506700G>A	ENSP00000473551:p.Arg998Lys		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R998K	ENST00000602533.1	37	c.2993		10	.	.	.	.	.	.	.	.	.	.	g	0.029	-1.347534	0.01266	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.16324	2.35;2.35	2.82	-0.331	0.12679	.	.	.	.	.	T	0.09024	0.0223	L	0.41824	1.3	0.20196	N	0.999925	B	0.29862	0.259	B	0.25759	0.063	T	0.37865	-0.9687	9	0.02654	T	1	.	4.189	0.10413	0.2482:0.193:0.5588:0.0	.	1054	Q9BXX3	AN30A_HUMAN	K	998;1117	ENSP00000354432:R998K;ENSP00000363792:R1117K	ENSP00000354432:R998K	R	+	2	0	ANKRD30A	37546706	0.168000	0.22989	0.000000	0.03702	0.002000	0.02628	-0.273000	0.08548	-0.376000	0.07943	-0.347000	0.07816	AGA	ANKRD30A	-	NULL	ENSG00000148513		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	51	0	G	NM_052997		37506700	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	65.71	12	23	SNP	0.671	A	A	37506700	G	A	37506700	3	1	35	1	0	0	0	0	1	0	0	0	658	942	33	3	3123	3	ANKRD30A	10	37506700	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	16409182	37506700	98028047	105	8464											
OR13A1	79290	genome.wustl.edu	37	chr10	45799654	45799654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtacataggagcgtggaGcccagggttgaacgtgatgg	12	7	16	6	2	0	2	0	2	0	0	0	4	0	4	1	4	4	2	1	4	4	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:45799654G>A	ENST00000553795.1	-	4	525	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F	OR13A1_ENST00000374401.2_Missense_Mutation_p.L73F|OR13A1_ENST00000536058.1_Missense_Mutation_p.L73F	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GGAGCGTGGAGCCCAGGGTTG	0.512																																																	0													96	106	103					10																	45799654		2203	4300	6503	SO:0001583	missense	0			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"GPCR / Class A : Olfactory receptors"	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.217C>T	10.37:g.45799654G>A	ENSP00000451950:p.Leu73Phe		Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L73F	ENST00000553795.1	37	c.217	CCDS31188.1	10	.	.	.	.	.	.	.	.	.	.	g	17.46	3.394468	0.62066	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.14391	2.51;2.51;2.51	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37348	N	0.002137	T	0.42154	0.1190	M	0.89715	3.055	0.41672	D	0.989246	D	0.89917	1.0	D	0.97110	1.0	T	0.47018	-0.9149	10	0.72032	D	0.01	-83.0042	10.075	0.42355	0.0924:0.0:0.9076:0.0	.	73	Q8NGR1	O13A1_HUMAN	F	73	ENSP00000451950:L73F;ENSP00000438657:L73F;ENSP00000363522:L73F	ENSP00000311379:L73F	L	-	1	0	OR13A1	45119660	1.000000	0.71417	0.132000	0.22025	0.622000	0.37654	7.624000	0.83124	2.556000	0.86216	0.644000	0.83932	CTC	OR13A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000256574		0.512	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	-	0	55	0	G	NM_001004297		45799654	-1	tier1	-	no_errors	ENST00000374401	ensembl	human	known	74_37	missense	57.58	56	76	SNP	0.998	A	A	45799654	G	A	45799654	3	1	35	1	0	0	0	0	1	0	0	0	10972	971	34	3	773	3	OR13A1	10	45799654	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	8292954	45799654	89735093	106	8465											
TBC1D12	23232	genome.wustl.edu	37	chr10	96269860	96269860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcaggtgtatctgttgCtgatcgagaggccagtctgg	9	11	14	7	1	2	2	0	1	2	1	3	3	2	2	1	3	2	4	1	3	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:96269860C>T	ENST00000225235.4	+	8	1723	c.1613C>T	c.(1612-1614)gCt>gTt	p.A538V	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	538	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GTATCTGTTGCTGATCGAGAG	0.388																																																	0													172	161	164					10																	96269860		1850	4105	5955	SO:0001583	missense	0			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1613C>T	10.37:g.96269860C>T	ENSP00000225235:p.Ala538Val		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A538V	ENST00000225235.4	37	c.1613	CCDS41553.1	10	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062597	0.76187	.	.	ENSG00000108239	ENST00000225235	T	0.12147	2.71	5.11	5.11	0.69529	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.33668	1.02	0.58432	D	0.999999	B	0.28470	0.213	B	0.37989	0.262	T	0.08207	-1.0733	10	0.32370	T	0.25	-9.121	16.0637	0.80856	0.0:1.0:0.0:0.0	.	538	O60347	TBC12_HUMAN	V	538	ENSP00000225235:A538V	ENSP00000225235:A538V	A	+	2	0	TBC1D12	96259850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.645000	0.89757	0.591000	0.81541	GCT	TBC1D12	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000108239		0.388	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	HGNC	protein_coding	OTTHUMT00000049482.2		0	53	0	C			96269860	1			no_errors	ENST00000225235	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	96269860	C	T	96269860	3	4	35	1	0	0	0	0	1	0	0	0	15648	797	28	3	1643	3	TBC1D12	10	96269860	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	50470206	96269860	39264887	107	8466											
CC2D2B	387707	genome.wustl.edu	37	chr10	97786972	97786972	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggattcttaccttaggatCgaaaggactctgaagagtaa	13	12	10	6	1	2	2	0	1	2	1	3	6	2	5	1	3	1	1	1	3	5	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:97786972C>T	ENST00000344386.3	+	9	944				ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000371198.2_Nonsense_Mutation_p.R133*|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.I281I|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		ACCTTAGGATCGAAAGGACTC	0.343																																																	0													129	104	111					10																	97786972		692	1591	2283	SO:0001627	intron_variant	0			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 130"	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.781-4605C>T	10.37:g.97786972C>T			A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Nonsense_Mutation	SNP	superfamily_C2_dom	p.R133*	ENST00000344386.3	37	c.397	CCDS41555.1	10	.	.	.	.	.	.	.	.	.	.	C	43	10.461201	0.99409	.	.	ENSG00000188649	ENST00000371198	.	.	.	5.46	-1.22	0.09494	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8059	0.13319	0.1378:0.3286:0.0:0.5336	.	.	.	.	X	133	.	ENSP00000360241:R133X	R	+	1	2	CC2D2B	97776962	0.973000	0.33851	0.997000	0.53966	0.790000	0.44656	-0.021000	0.12504	-0.186000	0.10533	-0.484000	0.04775	CGA	CC2D2B	-	NULL	ENSG00000188649		0.343	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CC2D2B	HGNC	protein_coding	OTTHUMT00000049573.3	-	0	95	0	C	NM_001001732		97786972	1	tier1	-	no_errors	ENST00000371198	ensembl	human	known	74_37	nonsense	73.75	21	59	SNP	0.998	T	T	97786972	C	T	97786972	1	4	35	0	1	0	0	0	0	0	0	0	2736	874	31	1		1	CC2D2B	10	97786972	Intron	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	1517112	97786972	37747775	108	8467											
MGEA5	10724	genome.wustl.edu	37	chr10	103567558	103567558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catttgtgatggagacttggGcatgagcaaaagaactgaat	14	10	12	5	0	0	5	0	3	0	2	0	6	0	5	0	2	2	2	0	2	4	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:103567558G>T	ENST00000361464.3	-	5	976	c.581C>A	c.(580-582)gCc>gAc	p.A194D	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.A194D|MGEA5_ENST00000357797.5_Missense_Mutation_p.A194D|MGEA5_ENST00000370094.3_Missense_Mutation_p.A194D	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	194					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GGAGACTTGGGCATGAGCAAA	0.388																																																	0													160	164	163					10																	103567558		2203	4300	6503	SO:0001583	missense	0			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"nuclear cytoplasmic O-GlcNAcase and acetyltransferase"	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.581C>A	10.37:g.103567558G>T	ENSP00000354850:p.Ala194Asp		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.A194D	ENST00000361464.3	37	c.581	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.305735	0.95601	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.39229	1.19;1.12;1.21;1.09	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76302	-0.3009	10	0.87932	D	0	-10.7062	19.4145	0.94689	0.0:0.0:1.0:0.0	.	194;194;194;194	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	D	194;194;194;194;142	ENSP00000409973:A194D;ENSP00000354850:A194D;ENSP00000350445:A194D;ENSP00000359112:A194D	ENSP00000350445:A194D	A	-	2	0	MGEA5	103557548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.669000	0.90835	0.585000	0.79938	GCC	MGEA5	-	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF	ENSG00000198408		0.388	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1		0	99	0	G	NM_012215		103567558	-1			no_errors	ENST00000361464	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	103567558	G	T	103567558	3	4	35	1	0	0	0	0	1	0	0	0	9593	1203	42	3	2217	3	MGEA5	10	103567558	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5780586	103567558	31967189	109	8468											
ATRNL1	26033	genome.wustl.edu	37	chr10	117607467	117607467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttctttgtctaccacGaggatcatcaggtgcccctc	6	14	9	12	1	4	0	2	0	2	0	5	2	4	1	3	2	2	1	3	2	1	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:117607467G>T	ENST00000355044.3	+	28	4109	c.3983G>T	c.(3982-3984)cGa>cTa	p.R1328L	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R379L|ATRNL1_ENST00000303745.7_Missense_Mutation_p.R121L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1328					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTCTACCACGAGGATCATCA	0.473																																																	0													126	113	117					10																	117607467		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3983G>T	10.37:g.117607467G>T	ENSP00000347152:p.Arg1328Leu		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.R1328L	ENST00000355044.3	37	c.3983	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860794	0.51482	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.51325	0.71;0.71;0.71	5.57	4.67	0.58626	.	0.300125	0.29273	N	0.012624	T	0.45637	0.1352	L	0.57536	1.79	0.39819	D	0.972802	B;P	0.38827	0.253;0.649	B;B	0.37550	0.066;0.253	T	0.48163	-0.9059	10	0.39692	T	0.17	-5.447	14.4066	0.67086	0.0712:0.0:0.9288:0.0	.	379;1328	B4DH41;Q5VV63	.;ATRN1_HUMAN	L	1328;379;121	ENSP00000347152:R1328L;ENSP00000409624:R379L;ENSP00000307660:R121L	ENSP00000307660:R121L	R	+	2	0	ATRNL1	117597457	1.000000	0.71417	0.907000	0.35723	0.992000	0.81027	4.547000	0.60712	1.362000	0.46000	-0.237000	0.12165	CGA	ATRNL1	-	NULL	ENSG00000107518		0.473	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	48	0	G	XM_049349		117607467	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.997	T	T	117607467	G	T	117607467	3	4	35	1	0	0	0	0	1	0	0	0	1208	1058	37	2	4093	2	ATRNL1	10	117607467	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	14039909	117607467	17927280	110	8469											
MKI67	4288	genome.wustl.edu	37	chr10	129902137	129902137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggttcctcttctactGggtttggtttcttctttgca	2	20	10	9	0	4	0	0	0	4	0	5	0	5	0	1	3	3	5	1	3	1	7			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:129902137G>T	ENST00000368654.3	-	13	8342	c.7967C>A	c.(7966-7968)cCa>cAa	p.P2656Q	MKI67_ENST00000368653.3_Missense_Mutation_p.P2296Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2656	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P2656Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTCTACTGGGTTTGGTTT	0.512																																																	1	Substitution - Missense(1)	lung(1)											164	170	168					10																	129902137		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7967C>A	10.37:g.129902137G>T	ENSP00000357643:p.Pro2656Gln		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P2656Q	ENST00000368654.3	37	c.7967	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095654	0.36952	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02301	4.35;4.35	3.68	1.68	0.24146	.	1.067000	0.07404	N	0.891193	T	0.08935	0.0221	L	0.57536	1.79	0.09310	N	1	P;D;D	0.76494	0.851;0.994;0.999	B;P;D	0.75020	0.32;0.81;0.985	T	0.36311	-0.9753	10	0.42905	T	0.14	.	8.2901	0.31952	0.0:0.0:0.5693:0.4307	.	2655;2296;2656	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2656;2296;2655	ENSP00000357643:P2656Q;ENSP00000357642:P2296Q	ENSP00000357642:P2296Q	P	-	2	0	MKI67	129792127	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	0.286000	0.22352	-0.309000	0.09137	CCA	MKI67	-	pfam_K167R	ENSG00000148773		0.512	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0	49	0	G	NM_002417		129902137	-1			no_errors	ENST00000368654	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	129902137	G	T	129902137	3	4	35	1	0	0	0	0	1	0	0	0	9636	1348	47	3	1815	3	MKI67	10	129902137	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	12294670	129902137	5632610	111	8470											
GLRX3	10539	genome.wustl.edu	37	chr10	131964815	131964815	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcacaaacataatattCagtttagcagttttgatatc	13	17	4	7	0	3	1	2	1	1	0	4	1	3	1	0	0	2	3	0	0	5	10			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr10:131964815C>T	ENST00000368644.1	+	5	545	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	GLRX3_ENST00000331244.5_Nonsense_Mutation_p.Q175*	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	175	Glutaredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|regulation of the force of heart contraction (GO:0002026)	extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	electron carrier activity (GO:0009055)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		ACATAATATTCAGTTTAGCAG	0.393																																																	0													124	122	123					10																	131964815		2203	4300	6503	SO:0001587	stop_gained	0			AJ010841	CCDS7661.1	10q26	2009-05-29	2007-08-16	2007-08-16	ENSG00000108010	ENSG00000108010			15987	protein-coding gene	gene with protein product	"glutaredoxin 4"	612754	"thioredoxin-like 2"	TXNL2		10636891, 11124703	Standard	NM_006541		Approved	PICOT, bA500G10.4, GRX3, GLRX4, GRX4	uc001lkm.2	O76003	OTTHUMG00000019267	ENST00000368644.1:c.523C>T	10.37:g.131964815C>T	ENSP00000357633:p.Gln175*		B3KMP7|B3KMQ5|D3DRG2|Q5JV01|Q96CE0|Q9P1B0|Q9P1B1	Nonsense_Mutation	SNP	pfam_Glutaredoxin,pfam_Thioredoxin_domain,pfam_mRNA_splic_U5,pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,tigrfam_Monothiol_GRX-rel	p.Q175*	ENST00000368644.1	37	c.523	CCDS7661.1	10	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623621	0.87460	.	.	ENSG00000108010	ENST00000331244;ENST00000368644	.	.	.	5.0	5.0	0.66597	.	0.128484	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.6284	8.9751	0.35930	0.0:0.7667:0.1511:0.0822	.	.	.	.	X	175	.	ENSP00000330836:Q175X	Q	+	1	0	GLRX3	131854805	0.993000	0.37304	1.000000	0.80357	0.797000	0.45037	2.340000	0.43974	2.323000	0.78572	0.655000	0.94253	CAG	GLRX3	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000108010		0.393	GLRX3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GLRX3	HGNC	protein_coding	OTTHUMT00000051021.1	-	0	33	0	C	NM_006541		131964815	1	tier1	-	no_errors	ENST00000331244	ensembl	human	known	74_37	nonsense	64.71	6	11	SNP	0.998	T	T	131964815	C	T	131964815	4	4	35	1	0	0	0	0	0	1	0	0	6487	827	29	3	541	3	GLRX3	10	131964815	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	2062678	131964815	3569932	112	8471											
CEND1	51286	genome.wustl.edu	37	chr11	788361	788361	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggttgctgtggttgttGagaagggcagggtcggcctt	5	13	17	6	1	1	1	1	1	0	1	2	2	1	1	1	5	1	5	1	5	1	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:788361G>A	ENST00000330106.4	-	2	391	c.216C>T	c.(214-216)ctC>ctT	p.L72L	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	72					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGTTGTTGAGAAGGGCAG	0.687																																																	0													44	49	48					11																	788361		2203	4299	6502	SO:0001819	synonymous_variant	0			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.216C>T	11.37:g.788361G>A			Q9NYM6	Silent	SNP	NULL	p.L72	ENST00000330106.4	37	c.216	CCDS7714.1	11																																																																																			CEND1	-	NULL	ENSG00000184524		0.687	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1	-	0	67	0	G	NM_016564		788361	-1	tier1	-	no_errors	ENST00000330106	ensembl	human	known	74_37	silent	54.35	42	50	SNP	1.000	A	A	788361	G	A	788361	2	1	35	1	0	0	0	0	0	0	0	1	3232	1277	45	3		3	CEND1	11	788361	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		788361	134218155	113	8472											
DCHS1	8642	genome.wustl.edu	37	chr11	6648069	6648069	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgctagcccggggaaaGcggggtccacgctcagcttc	7	7	13	14	3	2	0	2	0	0	0	4	1	3	1	2	4	4	3	2	4	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:6648069G>T	ENST00000299441.3	-	14	6612	c.6201C>A	c.(6199-6201)cgC>cgA	p.R2067R		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2067	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCGGGGAAAGCGGGGTCCAC	0.597																																																	0													27	28	28					11																	6648069		2201	4296	6497	SO:0001819	synonymous_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6201C>A	11.37:g.6648069G>T			O15098	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R2067	ENST00000299441.3	37	c.6201	CCDS7771.1	11																																																																																			DCHS1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.597	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	71	0	G	NM_003737		6648069	-1			no_errors	ENST00000299441	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.997	T	T	6648069	G	T	6648069	2	4	35	1	0	0	0	0	0	0	0	1	4296	958	34	3		3	DCHS1	11	6648069	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5859708	6648069	128358447	114	8473											
COPB1	1315	genome.wustl.edu	37	chr11	14491093	14491093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagccatgagcaacataGcctcagcaacaaaagactaa	18	6	7	10	0	1	2	1	1	0	1	1	2	1	2	2	0	6	3	2	0	8	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:14491093G>T	ENST00000249923.3	-	15	2054	c.1754C>A	c.(1753-1755)gCt>gAt	p.A585D	COPB1_ENST00000439561.2_Missense_Mutation_p.A585D	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	585					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GAGCAACATAGCCTCAGCAAC	0.383																																																	0													71	68	69					11																	14491093		2200	4294	6494	SO:0001583	missense	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1754C>A	11.37:g.14491093G>T	ENSP00000249923:p.Ala585Asp		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.A585D	ENST00000249923.3	37	c.1754	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168836	0.78339	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.51325	0.71;0.71	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.092556	0.85682	D	0.000000	T	0.58104	0.2099	M	0.64630	1.985	0.80722	D	1	B	0.23377	0.084	B	0.37508	0.252	T	0.56908	-0.7901	10	0.87932	D	0	-0.7094	20.2983	0.98569	0.0:0.0:1.0:0.0	.	585	P53618	COPB_HUMAN	D	585	ENSP00000249923:A585D;ENSP00000397873:A585D	ENSP00000249923:A585D	A	-	2	0	COPB1	14447669	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.500000	0.97977	2.802000	0.96397	0.655000	0.94253	GCT	COPB1	-	superfamily_ARM-type_fold,pirsf_COPB1	ENSG00000129083		0.383	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0	36	0	G	NM_016451		14491093	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	14491093	G	T	14491093	3	4	35	1	0	0	0	0	1	0	0	0	3735	971	34	3	1139	3	COPB1	11	14491093	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	7843024	14491093	120515423	115	8474											
E2F8	79733	genome.wustl.edu	37	chr11	19259573	19259573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtaggtgtggttaaaGggccaaagtcaggctggatc	9	10	16	6	0	1	0	1	0	0	0	2	1	1	1	1	6	0	4	1	6	4	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:19259573G>T	ENST00000527884.1	-	3	354	c.122C>A	c.(121-123)cCt>cAt	p.P41H	E2F8_ENST00000250024.4_Missense_Mutation_p.P41H|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	41					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTGGTTAAAGGGCCAAAGTC	0.507																																																	0													130	130	130					11																	19259573		2199	4293	6492	SO:0001583	missense	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.122C>A	11.37:g.19259573G>T	ENSP00000434199:p.Pro41His		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	pfam_E2F_TDP	p.P41H	ENST00000527884.1	37	c.122	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987610	0.74589	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024;ENST00000532666	T;T;T	0.47869	2.01;2.01;0.83	5.37	5.37	0.77165	.	0.180862	0.48767	D	0.000168	T	0.52468	0.1736	M	0.66939	2.045	0.47905	D	0.999547	P	0.49696	0.927	P	0.45946	0.498	T	0.58674	-0.7595	10	0.72032	D	0.01	-7.3435	13.9793	0.64295	0.0:0.0:0.8483:0.1517	.	41	A0AVK6	E2F8_HUMAN	H	41	ENSP00000434199:P41H;ENSP00000250024:P41H;ENSP00000437326:P41H	ENSP00000250024:P41H	P	-	2	0	E2F8	19216149	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.111000	0.64628	2.654000	0.90174	0.655000	0.94253	CCT	E2F8	-	NULL	ENSG00000129173		0.507	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	HGNC	protein_coding	OTTHUMT00000387830.1	-	0	70	0	G	NM_024680		19259573	-1	tier1	-	no_errors	ENST00000250024	ensembl	human	known	74_37	missense	6.17	75	5	SNP	1.000	T	T	19259573	G	T	19259573	3	4	35	1	0	0	0	0	1	0	0	0	4887	1000	35	3	2525	3	E2F8	11	19259573	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	4768480	19259573	115746943	116	8475											
NELL1	4745	genome.wustl.edu	37	chr11	21592425	21592425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatgtttagaccaaaatgGtcacaagctgtatcgaagtg	14	11	9	7	1	2	1	2	0	0	1	3	2	2	1	1	1	1	3	1	1	7	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:21592425G>A	ENST00000357134.5	+	18	2248	c.2096G>A	c.(2095-2097)gGt>gAt	p.G699D	NELL1_ENST00000325319.5_Missense_Mutation_p.G642D|NELL1_ENST00000298925.5_Missense_Mutation_p.G727D|NELL1_ENST00000532434.1_Missense_Mutation_p.G652D|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	699	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GACCAAAATGGTCACAAGCTG	0.473																																																	0													195	179	184					11																	21592425		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2096G>A	11.37:g.21592425G>A	ENSP00000349654:p.Gly699Asp		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.G699D	ENST00000357134.5	37	c.2096	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566873	0.86439	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	6.16	5.25	0.73442	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	L	0.51422	1.61	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.997;0.998;0.998;1.0;0.998	D;D;D;D;D	0.87578	0.934;0.961;0.961;0.998;0.937	T	0.77122	-0.2704	10	0.54805	T	0.06	-9.952	17.6643	0.88200	0.0:0.1229:0.8771:0.0	.	642;727;244;652;699	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	D	727;699;642;652	ENSP00000298925:G727D;ENSP00000349654:G699D;ENSP00000317837:G642D;ENSP00000437170:G652D	ENSP00000298925:G727D	G	+	2	0	NELL1	21549001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.410000	0.73294	1.611000	0.50210	0.650000	0.86243	GGT	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.473	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0	82	0	G	NM_006157		21592425	1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	A	A	21592425	G	A	21592425	3	1	35	1	0	0	0	0	1	0	0	0	10372	1261	44	3	2166	3	NELL1	11	21592425	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	2332852	21592425	113414091	117	8476											
ELP4	26610	genome.wustl.edu	37	chr11	31616430	31616430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatagcttggcgttaccaGttattacccaagatggaggc	13	10	10	8	1	0	1	0	0	0	1	0	2	0	2	2	3	3	3	2	3	7	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:31616430G>T	ENST00000350638.5	+	4	530	c.495G>T	c.(493-495)caG>caT	p.Q165H	ELP4_ENST00000395934.2_Missense_Mutation_p.Q165H|ELP4_ENST00000379163.5_Missense_Mutation_p.Q165H	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	165					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGCGTTACCAGTTATTACCCA	0.303																																																	0													61	57	58					11																	31616430		1811	4060	5871	SO:0001583	missense	0			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.495G>T	11.37:g.31616430G>T	ENSP00000298937:p.Gln165His		B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase	p.Q165H	ENST00000350638.5	37	c.495	CCDS7875.2	11	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295848	0.60086	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.45668	0.89;0.89;0.89	5.12	2.83	0.33086	.	0.056868	0.64402	D	0.000001	T	0.65333	0.2681	M	0.88181	2.935	0.47123	D	0.999325	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.995	T	0.68823	-0.5307	10	0.59425	D	0.04	-6.4092	9.0326	0.36269	0.2704:0.0:0.7296:0.0	.	165;165;165	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	H	165	ENSP00000298937:Q165H;ENSP00000368461:Q165H;ENSP00000379267:Q165H	ENSP00000298937:Q165H	Q	+	3	2	ELP4	31573006	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	2.807000	0.47955	1.285000	0.44548	0.460000	0.39030	CAG	ELP4	-	pfam_Elongator_complex_protein_4	ENSG00000109911		0.303	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	HGNC	protein_coding	OTTHUMT00000286640.1	-	0	41	0	G	NM_019040		31616430	1	tier1	-	no_errors	ENST00000395934	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.997	T	T	31616430	G	T	31616430	3	4	35	1	0	0	0	0	1	0	0	0	5098	1020	36	3	509	3	ELP4	11	31616430	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	10024005	31616430	103390086	118	8477											
WT1	7490	genome.wustl.edu	37	chr11	32439125	32439125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagagaaaaccttacccCtttaaggtggctcctaagtt	13	11	8	9	0	0	1	0	0	0	1	1	3	1	1	4	2	2	2	4	2	7	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:32439125C>A	ENST00000379079.2	-	4	585	c.312G>T	c.(310-312)aaG>aaT	p.K104N	WT1_ENST00000448076.3_Missense_Mutation_p.K316N|WT1_ENST00000332351.3_Missense_Mutation_p.K316N|WT1_ENST00000530998.1_Missense_Mutation_p.K104N	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	248					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G249fs*11(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AACCTTACCCCTTTAAGGTGG	0.373			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	1	Insertion - Frameshift(1)	kidney(1)											119	107	111					11																	32439125		2202	4299	6501	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.312G>T	11.37:g.32439125C>A	ENSP00000368370:p.Lys104Asn		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.K316N	ENST00000379079.2	37	c.948	CCDS55751.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.16|19.16	3.774469|3.774469	0.70107|0.70107	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	.|D;D;D;D;D;D	.|0.89050	.|-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	6.17|6.17	0.079|0.079	0.14414|0.14414	.|Wilm&apos (1);s tumour protein, N-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000001	D|D	0.90642|0.90642	0.7065|0.7065	L|L	0.49778|0.49778	1.585|1.585	0.44862|0.44862	D|D	0.997874|0.997874	.|D;D;D;D;D	.|0.76494	.|0.999;0.998;0.999;0.969;0.999	.|D;D;D;P;D	.|0.69307	.|0.963;0.946;0.963;0.835;0.933	D|D	0.88602|0.88602	0.3150|0.3150	5|10	.|0.62326	.|D	.|0.03	.|.	11.2794|11.2794	0.49186|0.49186	0.0:0.4339:0.0:0.5661|0.0:0.4339:0.0:0.5661	.|.	.|321;248;321;104;104	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	W|N	7|104;316;104;316;316;67	.|ENSP00000368370:K104N;ENSP00000331327:K316N;ENSP00000435307:K104N;ENSP00000415516:K316N;ENSP00000413452:K316N;ENSP00000435351:K67N	.|ENSP00000331327:K316N	G|K	-|-	1|3	0|2	WT1|WT1	32395701|32395701	0.996000|0.996000	0.38824|0.38824	0.989000|0.989000	0.46669|0.46669	0.993000|0.993000	0.82548|0.82548	0.359000|0.359000	0.20233|0.20233	-0.017000|-0.017000	0.14103|0.14103	0.655000|0.655000	0.94253|0.94253	GGG|AAG	WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.373	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095434.1	-	0	67	0	C	NM_000378		32439125	-1	tier1	-	no_errors	ENST00000332351	ensembl	human	known	74_37	missense	39.25	65	42	SNP	0.992	A	A	32439125	C	A	32439125	3	1	35	1	0	0	0	0	1	0	0	0	17457	680	24	3	633	3	WT1	11	32439125	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	822695	32439125	102567391	119	8478											
OR8H1	219469	genome.wustl.edu	37	chr11	56058051	56058051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcgcagaaatgcagtctgCtcatccaaaccacattgaca	14	8	7	12	1	2	2	1	1	1	1	4	2	3	2	2	0	3	3	2	0	2	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:56058051C>G	ENST00000313022.2	-	1	515	c.488G>C	c.(487-489)aGc>aCc	p.S163T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATGCAGTCTGCTCATCCAAAC	0.443																																																	0													93	85	88					11																	56058051		2201	4296	6497	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.488G>C	11.37:g.56058051C>G	ENSP00000323595:p.Ser163Thr		B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S163T	ENST00000313022.2	37	c.488	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428447	0.25726	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00123	8.7	3.64	-5.23	0.02798	GPCR, rhodopsin-like superfamily (1);	1.046160	0.07449	N	0.898620	T	0.00109	0.0003	L	0.37561	1.115	0.09310	N	1	B	0.14438	0.01	B	0.24974	0.057	T	0.14868	-1.0457	10	0.87932	D	0	.	4.5452	0.12078	0.307:0.2817:0.0:0.4113	.	163	Q8NGG4	OR8H1_HUMAN	T	163;159	ENSP00000323595:S163T	ENSP00000323595:S163T	S	-	2	0	OR8H1	55814627	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.500000	0.02283	-0.799000	0.04439	0.446000	0.29264	AGC	OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181693		0.443	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	-	0	35	0	C	NM_001005199		56058051	-1	tier1	-	no_errors	ENST00000313022	ensembl	human	known	74_37	missense	44.44	29	24	SNP	0.000	G	G	56058051	C	G	56058051	3	3	35	1	0	0	0	0	1	0	0	0	11276	797	28	5	449	5	OR8H1	11	56058051	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	23618926	56058051	78948465	120	8479											
FAM111A	63901	genome.wustl.edu	37	chr11	58920030	58920030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgttgagagaacaaatcGtggctcagtaccccagtttg	10	11	12	8	1	1	2	1	1	0	1	2	3	1	2	2	1	2	4	2	1	3	3	rs369758756		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:58920030G>T	ENST00000528737.1	+	5	3707	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	FAM111A_ENST00000420244.1_Missense_Mutation_p.V297L|FAM111A_ENST00000533703.1_Missense_Mutation_p.V297L|FAM111A_ENST00000361723.3_Missense_Mutation_p.V297L|FAM111A_ENST00000531147.1_Missense_Mutation_p.V297L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	297					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGAACAAATCGTGGCTCAGTA	0.378																																																	0													38	42	41					11																	58920030		2201	4294	6495	SO:0001583	missense	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.889G>T	11.37:g.58920030G>T	ENSP00000434435:p.Val297Leu		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.V297L	ENST00000528737.1	37	c.889	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948609	0.34377	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.65	-4.38	0.03622	.	1.097440	0.06870	N	0.800630	T	0.28234	0.0697	L	0.45581	1.43	0.09310	N	1	B	0.29552	0.248	B	0.30943	0.122	T	0.30149	-0.9988	10	0.30854	T	0.27	-6.5639	1.2375	0.01956	0.4316:0.1066:0.1908:0.271	.	297	Q96PZ2	F111A_HUMAN	L	297	ENSP00000434435:V297L;ENSP00000406683:V297L;ENSP00000355264:V297L;ENSP00000433154:V297L;ENSP00000431631:V297L	ENSP00000355264:V297L	V	+	1	0	FAM111A	58676606	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.028000	0.12350	-0.455000	0.07054	0.650000	0.86243	GTG	FAM111A	-	NULL	ENSG00000166801		0.378	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	-	0	61	0	G	NM_022074		58920030	1	tier1	-	no_errors	ENST00000361723	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	58920030	G	T	58920030	3	4	35	1	0	0	0	0	1	0	0	0	5418	1145	40	2	895	2	FAM111A	11	58920030	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	2861979	58920030	76086486	121	8480											
C11orf9	745	genome.wustl.edu	37	chr11	61545851	61545851	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgtcccctgcccccaGgtgtcatcgctcaggaggtg	4	10	13	14	1	2	0	2	0	0	0	4	1	3	1	4	4	1	2	4	4	0	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:61545851G>T	ENST00000278836.5	+	14	1999		c.e14-1		MYRF_ENST00000265460.5_Splice_Site|MYRF_ENST00000389602.4_Splice_Site|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Splice_Site	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor						central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCTGCCCCCAGGTGTCATCGC	0.537																																																	0													94	92	93					11																	61545851		2202	4299	6501	SO:0001630	splice_region_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1904-1G>T	11.37:g.61545851G>T			O43582|Q9P1Q6	Splice_Site	SNP	-	e14-1	ENST00000278836.5	37	c.1904-1	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511827	0.64522	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797;ENST00000389602	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6145	0.88064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C11orf9	61302427	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	9.350000	0.97070	2.239000	0.73571	0.561000	0.74099	.	MYRF	-	-	ENSG00000124920		0.537	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2		0	73	0	G	NM_013279	Intron	61545851	1			no_errors	ENST00000278836	ensembl	human	known	74_37	splice_site	5.41	70	4	SNP	1.000	T	T	61545851	G	T	61545851	5	4	35	1	0	0	0	0	0	0	1	0	1676	1014	35	3	1980	3	C11orf9	11	61545851	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	2625821	61545851	73460665	122	8481											
PDE2A	5138	genome.wustl.edu	37	chr11	72301270	72301270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgcagggaagaggcaTccaggtcgtagagttcccct	9	8	14	10	1	0	3	0	1	0	2	3	4	2	4	3	3	2	5	3	3	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:72301270T>C	ENST00000334456.5	-	9	967	c.722A>G	c.(721-723)gAt>gGt	p.D241G	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Missense_Mutation_p.D126G|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000444035.2_Missense_Mutation_p.D232G|PDE2A_ENST00000540345.1_Missense_Mutation_p.D232G|PDE2A_ENST00000544570.1_Missense_Mutation_p.D234G	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	241	GAF 1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGAAGAGGCATCCAGGTCGTA	0.687											OREG0021197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47	42	44					11																	72301270		1900	3655	5555	SO:0001583	missense	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.722A>G	11.37:g.72301270T>C	ENSP00000334910:p.Asp241Gly	1136	B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D241G	ENST00000334456.5	37	c.722	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334650	0.81801	.	.	ENSG00000186642	ENST00000334456;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	4.43	4.43	0.53597	GAF (1);	1.297390	0.05474	N	0.553581	T	0.81884	0.4917	M	0.61703	1.905	0.39632	D	0.970187	B;D;D;P;D	0.64830	0.448;0.992;0.984;0.669;0.994	B;P;P;B;D	0.64237	0.13;0.887;0.664;0.313;0.923	T	0.72727	-0.4206	10	0.87932	D	0	.	10.303	0.43663	0.0:0.0:0.0:1.0	.	126;241;232;234;241	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646	.;PDE2A_HUMAN;.;.;.	G	241;232;310;234;126;232;65	ENSP00000334910:D241G;ENSP00000411657:D232G;ENSP00000442256:D234G;ENSP00000410310:D126G;ENSP00000446399:D232G;ENSP00000439077:D65G	ENSP00000334910:D241G	D	-	2	0	PDE2A	71978918	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	3.024000	0.49674	2.002000	0.58637	0.477000	0.44152	GAT	PDE2A	-	smart_GAF	ENSG00000186642		0.687	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0	36	0	T	NM_002599		72301270	-1	tier1	-	no_errors	ENST00000334456	ensembl	human	known	74_37	missense	50.82	30	31	SNP	1.000	C	C	72301270	T	C	72301270	3	2	35	1	0	0	0	0	1	0	0	0	11675	1435	50	4	2195	4	PDE2A	11	72301270	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	10755419	72301270	62705246	123	8482											
APOC3	345	genome.wustl.edu	37	chr11	116703479	116703479	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccctgactgatttaGgggctgggtgaccgatggct	5	12	14	10	1	0	3	0	3	0	0	1	4	1	3	3	4	1	3	3	4	1	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:116703479G>T	ENST00000227667.3	+	4	241		c.e4-1		APOC3_ENST00000375345.1_Splice_Site	NM_000040.1	NP_000031.1	P02656	APOC3_HUMAN	apolipoprotein C-III						cellular response to glucose stimulus (GO:0071333)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle remodeling (GO:0034375)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of cholesterol import (GO:0060621)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of high-density lipoprotein particle clearance (GO:0010987)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of triglyceride catabolic process (GO:0010897)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	cholesterol binding (GO:0015485)|enzyme regulator activity (GO:0030234)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|phospholipid binding (GO:0005543)			endometrium(1)|lung(6)	7	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GACTGATTTAGGGGCTGGGTG	0.552																																					GBM(81;259 1650 7161 35190)												0													145	133	137					11																	116703479		2201	4295	6496	SO:0001630	splice_region_variant	0			X01388	CCDS8377.1	11q23.3	2013-01-24			ENSG00000110245	ENSG00000110245		"Apolipoproteins"	610	protein-coding gene	gene with protein product		107720					Standard	NM_000040		Approved		uc001ppt.1	P02656	OTTHUMG00000046115	ENST00000227667.3:c.180-1G>T	11.37:g.116703479G>T			Q08E83|Q6Q786	Splice_Site	SNP	-	e3-1	ENST00000227667.3	37	c.180-1	CCDS8377.1	11	.	.	.	.	.	.	.	.	.	.	G	12.41	1.930654	0.34096	.	.	ENSG00000110245	ENST00000227667;ENST00000375345	.	.	.	5.04	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0851	0.19962	0.0951:0.0:0.7192:0.1856	.	.	.	.	.	-1	.	.	.	+	.	.	APOC3	116208689	0.997000	0.39634	0.106000	0.21319	0.302000	0.27658	4.235000	0.58666	0.687000	0.31509	0.555000	0.69702	.	APOC3	-	-	ENSG00000110245		0.552	APOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC3	HGNC	protein_coding	OTTHUMT00000106284.2	-	0	65	0	G	NM_000040	Intron	116703479	1	tier1	-	no_errors	ENST00000227667	ensembl	human	known	74_37	splice_site	5.06	75	4	SNP	0.456	T	T	116703479	G	T	116703479	5	4	35	1	0	0	0	0	0	0	1	0	799	1014	35	3	189	3	APOC3	11	116703479	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	44402209	116703479	18303037	124	8483											
GRAMD1B	57476	genome.wustl.edu	37	chr11	123480972	123480972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcctcacccacgacgtGccctaccatgactacttcta	10	9	6	16	2	2	1	1	1	1	0	3	3	3	1	4	0	3	0	4	0	4	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr11:123480972G>T	ENST00000529750.1	+	13	1743	c.1416G>T	c.(1414-1416)gtG>gtT	p.V472V	GRAMD1B_ENST00000456860.2_Silent_p.V479V|GRAMD1B_ENST00000322282.7_Silent_p.V472V|GRAMD1B_ENST00000450171.2_Silent_p.V163V	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	472						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCCACGACGTGCCCTACCATG	0.547																																																	0													123	122	122					11																	123480972		2068	4204	6272	SO:0001819	synonymous_variant	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1416G>T	11.37:g.123480972G>T			Q6UW85|Q9ULL9	Silent	SNP	pfam_GRAM,smart_GRAM	p.V472	ENST00000529750.1	37	c.1416	CCDS53720.1	11																																																																																			GRAMD1B	-	NULL	ENSG00000023171		0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0	61	0	G	XM_370660		123480972	1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	silent	44.62	36	29	SNP	0.997	T	T	123480972	G	T	123480972	2	4	35	1	0	0	0	0	0	0	0	1	6775	1306	46	3		3	GRAMD1B	11	123480972	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	6777493	123480972	11525544	125	8484											
B4GALNT3	283358	genome.wustl.edu	37	chr12	661313	661313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttctaccaggaaaacGcctactaccaagaccggtga	14	8	8	11	2	1	2	0	1	1	1	1	3	1	3	4	2	4	1	4	2	7	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:661313G>A	ENST00000266383.5	+	12	1205	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	398					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCAGGAAAACGCCTACTACCA	0.532																																																	0													100	94	96					12																	661313		2203	4300	6503	SO:0001583	missense	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1192G>A	12.37:g.661313G>A	ENSP00000266383:p.Ala398Thr		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.A398T	ENST00000266383.5	37	c.1192	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726536	0.30593	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.71817	-0.6;-0.6	5.0	-2.65	0.06095	.	0.772340	0.12658	N	0.449888	T	0.46964	0.1420	N	0.19112	0.55	0.09310	N	1	B;B	0.16396	0.017;0.004	B;B	0.08055	0.003;0.002	T	0.32561	-0.9902	10	0.59425	D	0.04	-4.2299	3.4149	0.07372	0.0988:0.1811:0.4172:0.3028	.	300;398	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	T	398;300	ENSP00000266383:A398T;ENSP00000322953:A300T	ENSP00000266383:A398T	A	+	1	0	B4GALNT3	531574	0.000000	0.05858	0.350000	0.25708	0.976000	0.68499	-0.169000	0.09911	-0.122000	0.11766	0.655000	0.94253	GCC	B4GALNT3	-	NULL	ENSG00000139044		0.532	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	-	0	48	0	G	NM_173593		661313	1	tier1	-	no_errors	ENST00000266383	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.037	A	A	661313	G	A	661313	3	1	35	1	0	0	0	0	1	0	0	0	1269	1087	38	1	1238	1	B4GALNT3	12	661313	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		661313	133190582	126	8485											
LRP6	4040	genome.wustl.edu	37	chr12	12317415	12317415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagttcaaagccaataGggcaagcacagcgaaggccc	14	5	12	10	1	1	2	1	2	0	0	1	3	1	2	2	2	3	3	2	2	5	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:12317415G>T	ENST00000261349.4	-	9	1920	c.1844C>A	c.(1843-1845)cCt>cAt	p.P615H	LRP6_ENST00000543091.1_Missense_Mutation_p.P615H	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	615	EGF-like 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAAGCCAATAGGGCAAGCACA	0.463																																																	0													120	113	115					12																	12317415		2203	4300	6503	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1844C>A	12.37:g.12317415G>T	ENSP00000261349:p.Pro615His		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P615H	ENST00000261349.4	37	c.1844	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042722	0.93685	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.97303	-4.33;-4.33	5.65	5.65	0.86999	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000009	D	0.98457	0.9486	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99023	1.0818	10	0.72032	D	0.01	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	615;615	F5H7J9;O75581	.;LRP6_HUMAN	H	615	ENSP00000261349:P615H;ENSP00000442472:P615H	ENSP00000261349:P615H	P	-	2	0	LRP6	12208682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.729000	0.98795	2.824000	0.97209	0.655000	0.94253	CCT	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom	ENSG00000070018		0.463	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0	66	0	G			12317415	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	12317415	G	T	12317415	3	4	35	1	0	0	0	0	1	0	0	0	8997	1000	35	3	3057	3	LRP6	12	12317415	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	11656102	12317415	121534480	127	8486											
SENP1	29843	genome.wustl.edu	37	chr12	48468515	48468515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttggctatagtaaacTgtttccctgtgaccatctgt	7	16	10	8	0	1	1	0	1	1	0	2	1	2	1	2	2	1	4	2	2	4	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:48468515T>C	ENST00000004980.5	-	7	1092	c.614A>G	c.(613-615)cAg>cGg	p.Q205R	SENP1_ENST00000551330.1_Missense_Mutation_p.Q205R|SENP1_ENST00000549518.1_Missense_Mutation_p.Q205R|SENP1_ENST00000448372.1_Missense_Mutation_p.Q205R|SENP1_ENST00000549595.1_Missense_Mutation_p.Q205R|SENP1_ENST00000339976.6_3'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	205					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TATAGTAAACTGTTTCCCTGT	0.328																																																	0													179	165	169					12																	48468515		1870	4098	5968	SO:0001583	missense	0			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.614A>G	12.37:g.48468515T>C	ENSP00000004980:p.Gln205Arg		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q205R	ENST00000004980.5	37	c.614	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957991	0.34565	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.04	3.88	0.44766	.	0.202341	0.34268	N	0.004107	T	0.08758	0.0217	N	0.24115	0.695	0.80722	D	1	P;P	0.38677	0.51;0.642	B;B	0.32090	0.066;0.14	T	0.14144	-1.0483	10	0.07990	T	0.79	-7.7751	11.0905	0.48113	0.0:0.0:0.2959:0.7041	.	205;205	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	R	205	ENSP00000004980:Q205R;ENSP00000394791:Q205R;ENSP00000446681:Q205R;ENSP00000450076:Q205R;ENSP00000447328:Q205R	ENSP00000004980:Q205R	Q	-	2	0	SENP1	46754782	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.285000	0.33261	1.043000	0.40175	-0.291000	0.09656	CAG	SENP1	-	NULL	ENSG00000079387		0.328	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	-	0	53	0	T	NM_014554		48468515	-1	tier1	-	no_errors	ENST00000004980	ensembl	human	known	74_37	missense	6.06	61	4	SNP	1.000	C	C	48468515	T	C	48468515	3	2	35	1	0	0	0	0	1	0	0	0	14091	1580	55	4	1365	4	SENP1	12	48468515	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	36151100	48468515	85383380	128	8487											
PRKAG1	5571	genome.wustl.edu	37	chr12	49396786	49396786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccactacaagtcggtGaacctggcacagagcaacaa	15	5	8	13	1	0	2	0	1	0	1	2	2	1	2	3	2	4	2	3	2	5	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:49396786G>T	ENST00000548065.1	-	12	1348	c.892C>A	c.(892-894)Cac>Aac	p.H298N	PRKAG1_ENST00000547306.1_Missense_Mutation_p.H247N|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.H214N|PRKAG1_ENST00000552212.1_Missense_Mutation_p.H266N|PRKAG1_ENST00000316299.5_Missense_Mutation_p.H307N|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	298	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	ACAAGTCGGTGAACCTGGCAC	0.542																																																	0													147	121	130					12																	49396786		2203	4300	6503	SO:0001583	missense	0			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.892C>A	12.37:g.49396786G>T	ENSP00000447433:p.His298Asn		B4DDT7|Q8N7V9	Missense_Mutation	SNP	pfam_CBS_dom,smart_CBS_dom	p.H298N	ENST00000548065.1	37	c.892	CCDS8777.1	12	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913388	0.52439	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.18	5.18	0.71444	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.95720	0.8608	M	0.75777	2.31	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.73380	0.955;0.98	D	0.95716	0.8762	10	0.62326	D	0.03	-13.4702	17.6229	0.88087	0.0:0.0:1.0:0.0	.	307;298	Q8N7V9;P54619	.;AAKG1_HUMAN	N	63;214;247;307;298;266;218;192	ENSP00000446987:H63N;ENSP00000378599:H214N;ENSP00000448873:H247N;ENSP00000323867:H307N;ENSP00000447433:H298N;ENSP00000448972:H266N;ENSP00000449121:H218N;ENSP00000447671:H192N	ENSP00000323867:H307N	H	-	1	0	PRKAG1	47683053	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.556000	0.98127	2.698000	0.92095	0.655000	0.94253	CAC	PRKAG1	-	pfam_CBS_dom,smart_CBS_dom	ENSG00000181929		0.542	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG1	HGNC	protein_coding	OTTHUMT00000408946.1		0	43	0	G	NM_002733		49396786	-1			no_errors	ENST00000548065	ensembl	human	known	74_37	missense	5.56	67	4	SNP	1.000	T	T	49396786	G	T	49396786	3	4	35	1	0	0	0	0	1	0	0	0	12542	1290	45	3	107	3	PRKAG1	12	49396786	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	928271	49396786	84455109	129	8488											
TUBA1B	10376	genome.wustl.edu	37	chr12	49521825	49521825	+	Silent	SNP	A	A	G																															tccttctcaagggcagccatAtcttcacgggcctctgaaaa																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:49521825A>G	ENST00000336023.5	-	4	1366	c.1272T>C	c.(1270-1272)gaT>gaC	p.D424D	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	424					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGGCAGCCATATCTTCACGGG	0.493																																																	0													141	149	146					12																	49521825		2203	4300	6503	SO:0001819	synonymous_variant	0			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1272T>C	12.37:g.49521825A>G			P04687|P05209|Q27I68|Q8WU19	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.D424	ENST00000336023.5	37	c.1272	CCDS31792.1	12																																																																																			TUBA1B	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin	ENSG00000123416		0.493	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	-	0	138	0	A	NM_006082		49521825	-1	tier1	-	no_errors	ENST00000336023	ensembl	human	known	74_37	silent	21.89	132	37	SNP	1.000	G	G	49521825	A	G	49521825	2	3	35	1	0	0	0	0	0	0	0	1	16793	446	16	4		4	TUBA1B	12	49521825	Silent	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	125039	49521825	84330070	130	8489	33	2									
TUBA1B	10376	genome.wustl.edu	37	chr12	49521828	49521828	+	Silent	SNP	T	T	C																															ttctcaagggcagccatatcTtcacgggcctctgaaaactc																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:49521828T>C	ENST00000336023.5	-	4	1363	c.1269A>G	c.(1267-1269)gaA>gaG	p.E423E	RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	423					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						CAGCCATATCTTCACGGGCCT	0.502																																																	0													137	145	142					12																	49521828		2203	4300	6503	SO:0001819	synonymous_variant	0			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1269A>G	12.37:g.49521828T>C			P04687|P05209|Q27I68|Q8WU19	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.E423	ENST00000336023.5	37	c.1269	CCDS31792.1	12																																																																																			TUBA1B	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin	ENSG00000123416		0.502	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	-	0	145	0	T	NM_006082		49521828	-1	tier1	-	no_errors	ENST00000336023	ensembl	human	known	74_37	silent	23.67	129	40	SNP	1.000	C	C	49521828	T	C	49521828	2	2	35	1	0	0	0	0	0	0	0	1	16793	1606	56	4		4	TUBA1B	12	49521828	Silent	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	3	49521828	84330067	131	8490	33	2									
KRT6B	3854	genome.wustl.edu	37	chr12	52841743	52841743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgagggccatctccccacGctgctcagcatcagcaatgg	8	8	10	15	1	3	1	2	1	1	0	4	1	3	1	3	2	3	4	3	2	1	1	rs556860047		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:52841743G>T	ENST00000252252.3	-	7	1290	c.1243C>A	c.(1243-1245)Cgt>Agt	p.R415S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	415	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.R415C(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ATCTCCCCACGCTGCTCAGCA	0.557																																																	1	Substitution - Missense(1)	endometrium(1)											93	86	88					12																	52841743		2203	4300	6503	SO:0001583	missense	0			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1243C>A	12.37:g.52841743G>T	ENSP00000252252:p.Arg415Ser		P48669	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R415S	ENST00000252252.3	37	c.1243	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256849	0.59321	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.89939	-2.59	2.65	0.716	0.18191	Filament (1);	0.000000	0.64402	D	0.000012	D	0.94401	0.8199	M	0.93507	3.425	0.42008	D	0.990924	D	0.76494	0.999	D	0.76575	0.988	D	0.92489	0.5999	10	0.87932	D	0	.	7.4426	0.27192	0.0999:0.1694:0.7307:0.0	.	415	P04259	K2C6B_HUMAN	S	415;375	ENSP00000252252:R415S	ENSP00000252252:R415S	R	-	1	0	KRT6B	51128010	1.000000	0.71417	0.994000	0.49952	0.766000	0.43426	3.617000	0.54181	0.188000	0.20168	0.305000	0.20034	CGT	KRT6B	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	ENSG00000185479		0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	-	0	81	0	G	NM_005555		52841743	-1	tier1	-	no_errors	ENST00000252252	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	52841743	G	T	52841743	3	4	35	1	0	0	0	0	1	0	0	0	8508	1087	38	2	463	2	KRT6B	12	52841743	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	3319915	52841743	81010152	132	8491											
MON2	23041	genome.wustl.edu	37	chr12	62861090	62861090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaagaaattcccacctGtcaaagaggtaagcttcagg	15	7	10	9	0	2	3	2	0	0	3	3	3	3	3	2	2	1	3	2	2	5	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:62861090G>T	ENST00000393632.2	+	1	494	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	MON2_ENST00000393629.2_Missense_Mutation_p.V35F|MON2_ENST00000393630.3_Missense_Mutation_p.V35F|MON2_ENST00000552738.1_Missense_Mutation_p.V35F|MON2_ENST00000280379.6_Missense_Mutation_p.V35F|MON2_ENST00000552115.1_Missense_Mutation_p.V35F|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Missense_Mutation_p.V35F	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	35					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTCCCACCTGTCAAAGAGGT	0.547																																																	0													65	65	65					12																	62861090		2203	4300	6503	SO:0001583	missense	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.103G>T	12.37:g.62861090G>T	ENSP00000377252:p.Val35Phe		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.V35F	ENST00000393632.2	37	c.103	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.532040	0.96446	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629;ENST00000552115	T;T;T;T;T;T;T	0.66638	-0.21;-0.21;-0.22;-0.21;-0.21;-0.21;-0.19	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81578	0.4852	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.76494	0.997;0.996;0.996;0.999	D;D;D;D	0.71870	0.924;0.965;0.965;0.975	T	0.81079	-0.1095	9	.	.	.	-9.4158	18.5326	0.90997	0.0:0.0:1.0:0.0	.	35;35;35;35	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	F	35	ENSP00000377252:V35F;ENSP00000377250:V35F;ENSP00000280379:V35F;ENSP00000447407:V35F;ENSP00000449215:V35F;ENSP00000377249:V35F;ENSP00000446635:V35F	.	V	+	1	0	MON2	61147357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.742000	0.91588	2.732000	0.93576	0.650000	0.86243	GTC	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.547	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0	37	0	G	NM_015026		62861090	1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	62861090	G	T	62861090	3	4	35	1	0	0	0	0	1	0	0	0	9738	1377	48	3	105	3	MON2	12	62861090	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	10019347	62861090	70990805	133	8492											
IRAK3	11213	genome.wustl.edu	37	chr12	66638728	66638728	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctatatattccttgtagGtaataatggaagttctaaca	13	17	6	5	0	2	0	0	0	2	0	3	1	3	1	1	2	1	3	1	2	8	11			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:66638728G>A	ENST00000261233.4	+	10	1508	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I	IRAK3_ENST00000457197.2_Splice_Site_p.V302I	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTCCTTGTAGGTAATAATGGA	0.323																																																	0													60	60	60					12																	66638728		2203	4300	6503	SO:0001630	splice_region_variant	0			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1087-1G>A	12.37:g.66638728G>A				Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom	p.V363I	ENST00000261233.4	37	c.1087	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041138	0.55003	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.63913	-0.07;-0.07	6.03	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071181	0.53938	D	0.000042	T	0.66218	0.2767	M	0.68952	2.095	0.49130	D	0.99975	P;P	0.46784	0.859;0.884	P;P	0.49752	0.487;0.621	T	0.65602	-0.6128	9	.	.	.	-22.9366	10.2176	0.43177	0.0873:0.0:0.9127:0.0	.	302;363	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	I	363;302	ENSP00000261233:V363I;ENSP00000409852:V302I	.	V	+	1	0	IRAK3	64924995	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	3.696000	0.54757	2.861000	0.98227	0.655000	0.94253	GTA	IRAK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000090376		0.323	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	-	0	37	0	G		Missense_Mutation	66638728	1	tier1	-	no_errors	ENST00000261233	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	A	A	66638728	G	A	66638728	5	1	35	1	0	0	0	0	0	0	1	0	7851	1275	44	3	1125	3	IRAK3	12	66638728	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	3777638	66638728	67213167	134	8493											
PTPRR	5801	genome.wustl.edu	37	chr12	71148030	71148030	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacaacagcataaaatcCttctttgctccagattttgt	13	14	5	9	0	1	2	0	1	1	1	3	2	3	2	2	0	3	2	2	0	4	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:71148030C>A	ENST00000283228.2	-	5	1131	c.679G>T	c.(679-681)Gga>Tga	p.G227*	PTPRR_ENST00000440835.2_De_novo_Start_OutOfFrame|PTPRR_ENST00000549308.1_De_novo_Start_OutOfFrame|PTPRR_ENST00000378778.1_Nonsense_Mutation_p.G21*|PTPRR_ENST00000342084.4_Nonsense_Mutation_p.G115*	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	227					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G227R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCATAAAATCCTTCTTTGCTC	0.353																																																	1	Substitution - Missense(1)	lung(1)											140	135	137					12																	71148030		2203	4299	6502	SO:0001587	stop_gained	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.679G>T	12.37:g.71148030C>A	ENSP00000283228:p.Gly227*		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G227*	ENST00000283228.2	37	c.679	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.036078	0.98621	.	.	ENSG00000153233	ENST00000283228;ENST00000378778;ENST00000342084	.	.	.	5.86	5.86	0.93980	.	0.000000	0.47455	U	0.000225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.3999	20.1784	0.98192	0.0:1.0:0.0:0.0	.	.	.	.	X	227;21;115	.	ENSP00000283228:G227X	G	-	1	0	PTPRR	69434297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.678000	0.61641	2.771000	0.95319	0.643000	0.83706	GGA	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.353	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1		0	21	0	C	NM_002849		71148030	-1			no_errors	ENST00000283228	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	1.000	A	A	71148030	C	A	71148030	4	1	35	1	0	0	0	0	0	1	0	0	12855	690	24	3	1334	3	PTPRR	12	71148030	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	4509302	71148030	62703865	135	8494											
ALKBH2	121642	genome.wustl.edu	37	chr12	109526157	109526157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggccagcggcagcctgaCcaccgccaccctcctggagg	6	4	14	17	2	0	1	0	1	0	0	1	2	1	2	7	4	2	1	7	4	0	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:109526157C>T	ENST00000429722.2	-	4	1003	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	ALKBH2_ENST00000440112.2_Nonsense_Mutation_p.W147*|ALKBH2_ENST00000343075.3_Missense_Mutation_p.V214I	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	214	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GGCAGCCTGACCACCGCCACC	0.597								Direct reversal of damage																																									0													92	95	94					12																	109526157		2203	4300	6503	SO:0001583	missense	0			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.640G>A	12.37:g.109526157C>T	ENSP00000398181:p.Val214Ile		A4PET2|Q5XLE3	Nonsense_Mutation	SNP	NULL	p.W147*	ENST00000429722.2	37	c.441	CCDS31897.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.63|15.63	2.889431|2.889431	0.52014|0.52014	.|.	.|.	ENSG00000189046|ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370|ENST00000440112	T;T|.	0.14022|.	2.54;2.54|.	5.67|5.67	3.86|3.86	0.44501|0.44501	Oxoglutarate/iron-dependent oxygenase (2);|.	0.113655|.	0.64402|.	N|.	0.000015|.	T|.	0.63153|.	0.2487|.	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999982|0.999982	P|.	0.34562|.	0.457|.	B|.	0.31614|.	0.133|.	T|.	0.62101|.	-0.6925|.	9|.	0.34782|0.52906	T|T	0.22|0.07	-22.0881|-22.0881	9.2249|9.2249	0.37400|0.37400	0.0:0.7562:0.0:0.2438|0.0:0.7562:0.0:0.2438	.|.	214|.	Q6NS38|.	ALKB2_HUMAN|.	I|X	214|147	ENSP00000398181:V214I;ENSP00000343021:V214I|.	ENSP00000343021:V214I|ENSP00000399820:W147X	V|W	-|-	1|3	0|0	ALKBH2|ALKBH2	108010540|108010540	0.716000|0.716000	0.27956|0.27956	0.841000|0.841000	0.33234|0.33234	0.528000|0.528000	0.34623|0.34623	1.356000|1.356000	0.34079|0.34079	0.755000|0.755000	0.32990|0.32990	0.563000|0.563000	0.77884|0.77884	GTC|TGG	ALKBH2	-	NULL	ENSG00000189046		0.597	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALKBH2	HGNC	protein_coding	OTTHUMT00000403063.2	-	0	53	0	C	NM_001001655		109526157	-1	tier1	-	no_errors	ENST00000440112	ensembl	human	novel	74_37	nonsense	82.05	14	64	SNP	0.996	T	T	109526157	C	T	109526157	3	4	35	1	0	0	0	0	1	0	0	0	527	507	18	3	149	3	ALKBH2	12	109526157	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	38378127	109526157	24325738	136	8495											
C12orf51	283450	genome.wustl.edu	37	chr12	112696393	112696393	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactgggttttaagcagcAacgccgtctgaaacacaaaa	15	7	9	10	2	1	1	0	1	1	0	1	2	1	1	1	1	4	3	1	1	5	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:112696393A>G	ENST00000430131.2	-	19	2884	c.1739T>C	c.(1738-1740)tTg>tCg	p.L580S	HECTD4_ENST00000550722.1_Missense_Mutation_p.L866S|HECTD4_ENST00000377560.5_Missense_Mutation_p.L830S|RP3-521E19.2_ENST00000547401.1_RNA			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	580					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTAAGCAGCAACGCCGTCTG	0.483																																																	0													120	111	114					12																	112696393		2203	4300	6503	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.1739T>C	12.37:g.112696393A>G	ENSP00000404379:p.Leu580Ser		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L830S	ENST00000430131.2	37	c.2489		12	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488872	0.64074	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547352	T;T;T	0.55760	0.5;0.51;0.51	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.59088	0.2168	N	0.19112	0.55	0.47905	D	0.999549	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.75484	0.986;0.969;0.986	T	0.65150	-0.6238	10	0.72032	D	0.01	.	15.3028	0.73966	1.0:0.0:0.0:0.0	.	580;580;580	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	S	830;580;866;74	ENSP00000366783:L830S;ENSP00000404379:L580S;ENSP00000449784:L866S	ENSP00000366783:L830S	L	-	2	0	C12orf51	111180776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.925000	0.87563	2.012000	0.59069	0.533000	0.62120	TTG	HECTD4	-	NULL	ENSG00000173064		0.483	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	82	0	A	NM_173813		112696393	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	83.12	13	64	SNP	1.000	G	G	112696393	A	G	112696393	3	3	35	1	0	0	0	0	1	0	0	0	1701	131	5	4	10479	4	C12orf51	12	112696393	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	3170236	112696393	21155502	137	8496											
NOS1	4842	genome.wustl.edu	37	chr12	117718602	117718602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagccagcgtagcggatGagctgggagttccagactcg	8	9	15	9	3	0	2	0	1	0	1	2	4	1	4	2	2	4	4	2	2	2	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:117718602G>A	ENST00000338101.4	-	7	1456	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	NOS1_ENST00000317775.6_Silent_p.L484L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGTAGCGGATGAGCTGGGAGT	0.627																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													60	70	67					12																	117718602		2106	4251	6357	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1452C>T	12.37:g.117718602G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L484	ENST00000338101.4	37	c.1452	CCDS55890.1	12																																																																																			NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000089250		0.627	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	108	0	G			117718602	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	34.96	80	43	SNP	1.000	A	A	117718602	G	A	117718602	2	1	35	1	0	0	0	0	0	0	0	1	10580	1277	45	3		3	NOS1	12	117718602	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5022209	117718602	16133293	138	8497											
HNF1A	6927	genome.wustl.edu	37	chr12	121431999	121431999	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagagaggggtgtccccatCacaggcacaggggctgggct	8	5	16	12	0	1	1	1	0	0	1	2	2	2	1	3	6	0	3	3	6	0	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:121431999C>G	ENST00000257555.6	+	4	972	c.746C>G	c.(745-747)tCa>tGa	p.S249*	HNF1A_ENST00000543427.1_Nonsense_Mutation_p.S132*|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Nonsense_Mutation_p.S249*|HNF1A_ENST00000402929.1_Nonsense_Mutation_p.S249*|HNF1A_ENST00000400024.2_Nonsense_Mutation_p.S249*|HNF1A_ENST00000541395.1_Nonsense_Mutation_p.S249*			P20823	HNF1A_HUMAN	HNF1 homeobox A	249					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGTCCCCATCACAGGCACAG	0.622									Hepatic Adenoma, Familial Clustering of																																								0			GRCh37	CI083391	HNF1A	I							37	38	37					12																	121431999		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.746C>G	12.37:g.121431999C>G	ENSP00000257555:p.Ser249*		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Nonsense_Mutation	SNP	pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S249*	ENST00000257555.6	37	c.746	CCDS9209.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.521580	0.96416	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.0796	16.9721	0.86303	0.0:1.0:0.0:0.0	.	.	.	.	X	249;249;249;249;249;132;249;249;249;249;249	.	ENSP00000257555:S249X	S	+	2	0	HNF1A	119916382	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	7.421000	0.80204	2.245000	0.73994	0.409000	0.27619	TCA	HNF1A	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000135100		0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320957.5	-	0	42	0	C	NM_000545		121431999	1	tier1	-	no_errors	ENST00000257555	ensembl	human	known	74_37	nonsense	51.61	29	32	SNP	1.000	G	G	121431999	C	G	121431999	4	3	35	1	0	0	0	0	0	1	0	0	7278	838	29	5	760	5	HNF1A	12	121431999	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	3713397	121431999	12419896	139	8498											
HNF1A	6927	genome.wustl.edu	37	chr12	121432189	121432189	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctgcctccacctgccctCtcccccagtaaggtccacgg	5	7	9	20	1	1	0	0	0	1	0	4	0	3	0	8	3	2	1	8	3	1	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:121432189C>G	ENST00000257555.6	+	4	1162	c.936C>G	c.(934-936)ctC>ctG	p.L312L	HNF1A_ENST00000543427.1_Silent_p.L195L|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.L312L|HNF1A_ENST00000402929.1_Silent_p.L312L|HNF1A_ENST00000400024.2_Silent_p.L312L|HNF1A_ENST00000541395.1_Silent_p.L312L			P20823	HNF1A_HUMAN	HNF1 homeobox A	312					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACCTGCCCTCTCCCCCAGTA	0.667									Hepatic Adenoma, Familial Clustering of																																								0													19	18	18					12																	121432189		2199	4294	6493	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"Homeoboxes / HNF class"	11621	protein-coding gene	gene with protein product		142410	"transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.936C>G	12.37:g.121432189C>G			A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	pfam_HNF-1_N,superfamily_Lambda_DNA-bd_dom,superfamily_HNF1_dimer_dom	p.S250C	ENST00000257555.6	37	c.749	CCDS9209.1	12																																																																																			HNF1A	-	NULL	ENSG00000135100		0.667	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF1A	HGNC	protein_coding	OTTHUMT00000320957.5	-	0	40	0	C	NM_000545		121432189	1	tier1	-	no_errors	ENST00000538646	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.997	G	G	121432189	C	G	121432189	2	3	35	1	0	0	0	0	0	0	0	1	7278	900	32	5		5	HNF1A	12	121432189	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	190	121432189	12419706	140	8499											
CLIP1	6249	genome.wustl.edu	37	chr12	122763382	122763382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttctttgagttgaagCtccaagttctttaccttgag	7	19	8	7	0	2	3	0	3	2	0	3	3	3	3	2	0	2	4	2	0	3	9			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:122763382C>A	ENST00000540338.1	-	22	3914	c.3873G>T	c.(3871-3873)gaG>gaT	p.E1291D	CLIP1_ENST00000302528.7_Missense_Mutation_p.E1280D|CLIP1_ENST00000358808.2_Missense_Mutation_p.E1280D|CLIP1_ENST00000537178.1_Missense_Mutation_p.E1245D|CLIP1_ENST00000361654.4_Missense_Mutation_p.E1169D|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540539.1_5'Flank|CLIP1_ENST00000545889.1_Missense_Mutation_p.E866D			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1291					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGAGTTGAAGCTCCAAGTTCT	0.537																																																	0													70	68	68					12																	122763382		2203	4300	6503	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3873G>T	12.37:g.122763382C>A	ENSP00000439093:p.Glu1291Asp		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.E1291D	ENST00000540338.1	37	c.3873	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932404	0.73442	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	6.17	3.37	0.38596	.	0.166180	0.52532	D	0.000074	T	0.33673	0.0871	M	0.70275	2.135	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.17653	-1.0362	10	0.14656	T	0.56	-24.5874	8.7021	0.34332	0.0:0.6482:0.0:0.3518	.	1245;1280;1291	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	D	866;1280;1280;1010;322;1245;1291	ENSP00000438743:E866D;ENSP00000303585:E1280D;ENSP00000351665:E1280D;ENSP00000445531:E1245D;ENSP00000439093:E1291D	ENSP00000303585:E1280D	E	-	3	2	CLIP1	121329335	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.768000	0.38511	0.469000	0.27268	0.655000	0.94253	GAG	CLIP1	-	NULL	ENSG00000130779		0.537	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	-	0	43	0	C	NM_002956		122763382	-1	tier1	-	no_errors	ENST00000540338	ensembl	human	known	74_37	missense	83.87	4	26	SNP	1.000	A	A	122763382	C	A	122763382	3	1	35	1	0	0	0	0	1	0	0	0	3539	796	28	3	459	3	CLIP1	12	122763382	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	1331193	122763382	11088513	141	8500											
ATP6V0A2	23545	genome.wustl.edu	37	chr12	124241401	124241401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccatgctgatgcgcgtggGcctccgcgttgacaccacct	5	8	13	15	4	0	2	0	2	0	0	1	2	1	2	5	2	2	2	5	2	0	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:124241401G>T	ENST00000330342.3	+	19	2581	c.2333G>T	c.(2332-2334)gGc>gTc	p.G778V	ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.G60V|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	778					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATGCGCGTGGGCCTCCGCGTT	0.547																																																	0													209	165	180					12																	124241401		2203	4300	6503	SO:0001583	missense	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2333G>T	12.37:g.124241401G>T	ENSP00000332247:p.Gly778Val		A8K026|Q6NUM0	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.G778V	ENST00000330342.3	37	c.2333	CCDS9254.1	12	.	.	.	.	.	.	.	.	.	.	G	16.26	3.073478	0.55646	.	.	ENSG00000185344	ENST00000330342;ENST00000534943;ENST00000544833	D;D;D	0.86097	-2.07;-2.07;-2.07	5.71	4.81	0.61882	.	0.045304	0.85682	D	0.000000	D	0.91399	0.7286	M	0.84082	2.675	0.80722	D	1	P	0.51147	0.942	P	0.56648	0.803	D	0.92718	0.6189	10	0.87932	D	0	-14.8466	16.6992	0.85344	0.0:0.1296:0.8704:0.0	.	778	Q9Y487	VPP2_HUMAN	V	778;58;60	ENSP00000332247:G778V;ENSP00000443726:G58V;ENSP00000441143:G60V	ENSP00000332247:G778V	G	+	2	0	ATP6V0A2	122807354	1.000000	0.71417	0.995000	0.50966	0.172000	0.22775	6.354000	0.73036	1.392000	0.46585	-0.175000	0.13238	GGC	ATP6V0A2	-	pfam_V-ATPase_116kDa_su	ENSG00000185344		0.547	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2		0	49	0	G	NM_012463		124241401	1			no_errors	ENST00000330342	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	124241401	G	T	124241401	3	4	35	1	0	0	0	0	1	0	0	0	1170	1203	42	3	2407	3	ATP6V0A2	12	124241401	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	1478019	124241401	9610494	142	8501											
DNAH10	196385	genome.wustl.edu	37	chr12	124419180	124419180	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctaggatgctttgtctCaggactgtacctggaaggtg	7	12	13	9	0	1	0	1	0	1	0	3	3	2	3	2	4	2	2	2	4	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr12:124419180C>A	ENST00000409039.3	+	77	13161	c.13136C>A	c.(13135-13137)tCa>tAa	p.S4379*	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_5'UTR|RP11-380L11.3_ENST00000602292.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4379					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCTTTGTCTCAGGACTGTAC	0.527																																																	0													72	75	74					12																	124419180		2087	4224	6311	SO:0001587	stop_gained	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13136C>A	12.37:g.124419180C>A	ENSP00000386770:p.Ser4379*		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.S4379*	ENST00000409039.3	37	c.13136	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	54	22.744072	0.99950	.	.	ENSG00000197653	ENST00000409039	.	.	.	4.97	4.97	0.65823	.	0.228678	0.37857	N	0.001903	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	18.1808	0.89777	0.0:1.0:0.0:0.0	.	.	.	.	X	4379	.	ENSP00000386770:S4379X	S	+	2	0	DNAH10	122985133	1.000000	0.71417	0.982000	0.44146	0.622000	0.37654	7.752000	0.85141	2.448000	0.82819	0.561000	0.74099	TCA	DNAH10	-	pfam_Dynein_heavy_dom	ENSG00000197653		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	47	0	C			124419180	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	1.000	A	A	124419180	C	A	124419180	4	1	35	1	0	0	0	0	0	1	0	0	4612	838	29	3	13442	3	DNAH10	12	124419180	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	177779	124419180	9432715	143	8502											
FRY	10129	genome.wustl.edu	37	chr13	32839672	32839672	+	Frame_Shift_Del	DEL	A	A	-																															tgaactcccagcagcttttgAatgcagcgacagctttagcc																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr13:32839672delA	ENST00000380250.3	+	54	8361	c.7865delA	c.(7864-7866)gaafs	p.E2622fs	FRY_ENST00000542859.1_De_novo_Start_OutOfFrame	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2622						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGCTTTTGAATGCAGCGAC	0.512																																																	0													92	91	92					13																	32839672		1968	4153	6121	SO:0001589	frameshift_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7865delA	13.37:g.32839672delA	ENSP00000369600:p.Glu2622fs		Q9Y3N6	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.E2622fs	ENST00000380250.3	37	c.7865	CCDS41875.1	13																																																																																			FRY	-	NULL	ENSG00000073910		0.512	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1		0	71	0	A	NM_023037		32839672	1	tier1		no_errors	ENST00000380250	ensembl	human	known	74_37	frame_shift_del	41.18	70	49	DEL	0.997	-	-	32839672	A	-	32839672	7	5	35	1	0	1	0	1	0	0	0	0	6087	246	9	0	8079	0	FRY	13	32839672	Frame_Shift_Del	DEL	A	TCGA-JY-A6FA-01A-11D-A33E-09		32839672	82330206	144	8503											
BRCA2	675	genome.wustl.edu	37	chr13	32906495	32906495	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaatgtcctagaagatGaagtatatgaaacagttgta	16	11	9	5	0	0	4	0	2	0	2	1	4	1	4	2	0	2	3	2	0	8	5	rs397508009		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr13:32906495G>T	ENST00000380152.3	+	10	1113	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	BRCA2_ENST00000544455.1_Nonsense_Mutation_p.E294*			P51587	BRCA2_HUMAN	breast cancer 2, early onset	294					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CCTAGAAGATGAAGTATATGA	0.299			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													58	60	60					13																	32906495		2202	4295	6497	SO:0001587	stop_gained	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.880G>T	13.37:g.32906495G>T	ENSP00000369497:p.Glu294*		O00183|O15008|Q13879|Q5TBJ7	Nonsense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.E294*	ENST00000380152.3	37	c.880	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966917	0.74131	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	.	.	.	5.6	3.88	0.44766	.	0.205982	0.33457	N	0.004886	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	9.8754	0.41200	0.1576:0.0:0.8424:0.0	.	.	.	.	X	294;294;292	.	ENSP00000369497:E294X	E	+	1	0	BRCA2	31804495	1.000000	0.71417	0.136000	0.22124	0.204000	0.24138	1.458000	0.35223	0.729000	0.32403	-0.140000	0.14226	GAA	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.299	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	110	0	G	NM_000059		32906495	1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	nonsense	40.91	117	81	SNP	0.814	T	T	32906495	G	T	32906495	4	4	35	1	0	0	0	0	0	1	0	0	1503	1291	45	3	914	3	BRCA2	13	32906495	Nonsense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	66823	32906495	82263383	145	8504											
KL	9365	genome.wustl.edu	37	chr13	33635154	33635154	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatggccccgaaccaaggActgccgcgcctcctggccag	7	5	11	18	3	0	0	0	0	0	0	1	2	1	1	8	3	2	0	8	3	3	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr13:33635154A>C	ENST00000380099.3	+	4	1946	c.1938A>C	c.(1936-1938)ggA>ggC	p.G646G	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	646	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGAACCAAGGACTGCCGCGCC	0.632																																																	0													49	50	50					13																	33635154		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1938A>C	13.37:g.33635154A>C			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G646	ENST00000380099.3	37	c.1938	CCDS9347.1	13																																																																																			KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000133116		0.632	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	-	0	27	0	A			33635154	1	tier1	-	no_errors	ENST00000380099	ensembl	human	known	74_37	silent	36.00	16	9	SNP	0.151	C	C	33635154	A	C	33635154	2	2	35	1	0	0	0	0	0	0	0	1	8358	262	10	4		4	KL	13	33635154	Silent	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	728659	33635154	81534724	146	8505											
SOHLH2	54937	genome.wustl.edu	37	chr13	36748661	36748661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcaatgggtgtttgtTgtttcttacaaaacctcatg	10	15	8	8	0	3	0	2	0	1	0	3	0	3	0	1	1	3	4	1	1	4	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr13:36748661T>A	ENST00000379881.3	-	8	921	c.833A>T	c.(832-834)cAa>cTa	p.Q278L	SOHLH2_ENST00000554962.1_Missense_Mutation_p.Q355L|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.Q355L	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	278					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GGGTGTTTGTTGTTTCTTACA	0.393																																																	0													212	207	209					13																	36748661		2203	4300	6503	SO:0001583	missense	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.833A>T	13.37:g.36748661T>A	ENSP00000369210:p.Gln278Leu		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q355L	ENST00000379881.3	37	c.1064	CCDS9355.1	13	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280857	0.40394	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.35421	1.31;1.31;1.31	4.41	1.75	0.24633	Helix-loop-helix DNA-binding (1);	0.553031	0.17529	N	0.170922	T	0.27832	0.0685	L	0.53249	1.67	0.09310	N	0.999993	P;P	0.37781	0.608;0.608	B;B	0.34180	0.177;0.177	T	0.20338	-1.0278	10	0.87932	D	0	-13.3032	4.6329	0.12511	0.0:0.1059:0.1928:0.7013	.	355;278	B4DX90;Q9NX45	.;SOLH2_HUMAN	L	278;355;355	ENSP00000369210:Q278L;ENSP00000451542:Q355L;ENSP00000421868:Q355L	ENSP00000421868:Q355L	Q	-	2	0	CCDC169-SOHLH2;SOHLH2	35646661	0.953000	0.32496	0.118000	0.21660	0.493000	0.33554	1.657000	0.37366	0.076000	0.16826	0.528000	0.53228	CAA	CCDC169-SOHLH2	-	superfamily_bHLH_dom	ENSG00000250709		0.393	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	-	0	68	0	T	NM_017826		36748661	-1	tier1	-	no_errors	ENST00000511166	ensembl	human	known	74_37	missense	57.14	21	28	SNP	0.221	A	A	36748661	T	A	36748661	3	1	35	1	0	0	0	0	1	0	0	0	14969	1812	63	5	460	5	SOHLH2	13	36748661	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	3113507	36748661	78421217	147	8506											
NUFIP1	26747	genome.wustl.edu	37	chr13	45523907	45523907	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatagctactcattagtGagcatagggctggtgtcact	9	12	11	9	0	2	1	2	1	0	0	2	1	2	1	1	2	4	3	1	2	4	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr13:45523907G>T	ENST00000379161.4	-	8	1134	c.1088C>A	c.(1087-1089)tCa>tAa	p.S363*		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	363					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ACTCATTAGTGAGCATAGGGC	0.438																																																	0													237	201	213					13																	45523907		2203	4300	6503	SO:0001587	stop_gained	0			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1088C>A	13.37:g.45523907G>T	ENSP00000368459:p.Ser363*		Q8WVM5|Q96SG1	Nonsense_Mutation	SNP	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S363*	ENST00000379161.4	37	c.1088	CCDS9393.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.651339	0.96714	.	.	ENSG00000083635	ENST00000379161	.	.	.	5.9	4.88	0.63580	.	0.208569	0.42821	D	0.000655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4541	10.8484	0.46757	0.098:0.0:0.902:0.0	.	.	.	.	X	363	.	ENSP00000368459:S363X	S	-	2	0	NUFIP1	44421907	0.999000	0.42202	0.974000	0.42286	0.869000	0.49853	3.145000	0.50623	2.808000	0.96608	0.632000	0.83419	TCA	NUFIP1	-	NULL	ENSG00000083635		0.438	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2		0	63	0	G	NM_012345		45523907	-1			no_errors	ENST00000379161	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	0.916	T	T	45523907	G	T	45523907	4	4	35	1	0	0	0	0	0	1	0	0	10787	1294	45	3	411	3	NUFIP1	13	45523907	Nonsense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	8775246	45523907	69645971	148	8507											
UCHL3	7347	genome.wustl.edu	37	chr13	76179918	76179918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaccctgatgaactaagAtttaatgcgattgctctttc	10	13	8	10	3	1	3	0	2	1	1	2	5	1	3	1	0	3	1	1	0	3	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr13:76179918A>G	ENST00000377595.3	+	9	693	c.663A>G	c.(661-663)agA>agG	p.R221R	RP11-173B14.5_ENST00000568302.1_RNA|RP11-29G8.3_ENST00000563635.1_RNA|RP11-173B14.5_ENST00000568735.1_RNA|UCHL3_ENST00000606347.1_3'UTR	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	221	Interaction with ubiquitin.				protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		ATGAACTAAGATTTAATGCGA	0.348																																																	0													147	145	146					13																	76179918		2203	4300	6503	SO:0001819	synonymous_variant	0			M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090	ENST00000377595.3:c.663A>G	13.37:g.76179918A>G			B2R970|Q5TBK8|Q6IBE9	Silent	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.R221	ENST00000377595.3	37	c.663	CCDS9453.1	13																																																																																			UCHL3	-	NULL	ENSG00000118939		0.348	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCHL3	HGNC	protein_coding	OTTHUMT00000045292.2	-	0	31	0	A	NM_006002		76179918	1	tier1	-	no_errors	ENST00000377595	ensembl	human	known	74_37	silent	65.79	13	25	SNP	1.000	G	G	76179918	A	G	76179918	2	3	35	1	0	0	0	0	0	0	0	1	16970	330	12	4		4	UCHL3	13	76179918	Silent	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	30656011	76179918	38989960	149	8508											
IPO4	79711	genome.wustl.edu	37	chr14	24655975	24655975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacgtatgcgtatcgcattgCccagggccacatttctagct	8	12	9	12	3	1	0	0	0	1	0	2	0	1	0	2	1	4	4	2	1	4	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:24655975C>T	ENST00000354464.6	-	9	955	c.779G>A	c.(778-780)gGc>gAc	p.G260D	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	260					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TATCGCATTGCCCAGGGCCAC	0.517																																																	0													93	97	96					14																	24655975		2064	4213	6277	SO:0001583	missense	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.779G>A	14.37:g.24655975C>T	ENSP00000346453:p.Gly260Asp		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.G260D	ENST00000354464.6	37	c.779	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	C	8.366	0.834270	0.16820	.	.	ENSG00000196497	ENST00000354464	T	0.03413	3.94	4.96	4.96	0.65561	Armadillo-like helical (1);Armadillo-type fold (1);	0.124595	0.53938	D	0.000045	T	0.03053	0.0090	N	0.24115	0.695	0.40139	D	0.976811	B	0.17465	0.022	B	0.21360	0.034	T	0.46652	-0.9176	10	0.09084	T	0.74	-19.6983	13.2624	0.60113	0.0:0.8402:0.1597:0.0	.	260	Q8TEX9	IPO4_HUMAN	D	260	ENSP00000346453:G260D	ENSP00000346453:G260D	G	-	2	0	IPO4	23725815	0.875000	0.30112	0.885000	0.34714	0.418000	0.31294	4.185000	0.58330	2.733000	0.93635	0.655000	0.94253	GGC	IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.517	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	-	0	38	0	C	NM_024658		24655975	-1	tier1	-	no_errors	ENST00000354464	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.985	T	T	24655975	C	T	24655975	3	4	35	1	0	0	0	0	1	0	0	0	7822	739	26	3	2554	3	IPO4	14	24655975	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		24655975	82693565	150	8509											
FOXG1	2290	genome.wustl.edu	37	chr14	29237215	29237215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcttcgtgaaggtgccgCgccactacgacgacccgggc	7	6	14	14	6	0	1	0	1	0	0	1	3	0	1	3	2	3	1	3	2	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:29237215C>A	ENST00000313071.4	+	1	929	c.730C>A	c.(730-732)Cgc>Agc	p.R244S	RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R244S|RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	244			R -> C (in RTTCV; the mutant protein extensively, although not fully, localizes in nuclear speckles, while the wild-type is more widely dispersed throughout the nucleus). {ECO:0000269|PubMed:21280142}.		aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GAAGGTGCCGCGCCACTACGA	0.617																																																	0													47	47	47					14																	29237215		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.730C>A	14.37:g.29237215C>A	ENSP00000339004:p.Arg244Ser		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R244S	ENST00000313071.4	37	c.730	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	c	28.2	4.901819	0.92035	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.96587	-4.06;-4.06	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.066131	0.64402	U	0.000007	D	0.98801	0.9596	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99712	1.1007	10	0.87932	D	0	.	15.749	0.77969	0.0:1.0:0.0:0.0	.	244	P55316	FOXG1_HUMAN	S	244	ENSP00000371975:R244S;ENSP00000339004:R244S	ENSP00000339004:R244S	R	+	1	0	FOXG1	28306966	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.846000	0.69444	1.769000	0.52152	0.299000	0.19835	CGC	FOXG1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000176165		0.617	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	63	0	C			29237215	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	79.10	14	53	SNP	1.000	A	A	29237215	C	A	29237215	3	1	35	1	0	0	0	0	1	0	0	0	6031	768	27	2	732	2	FOXG1	14	29237215	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	4581240	29237215	78112325	151	8510											
MIPOL1	145282	genome.wustl.edu	37	chr14	37777689	37777689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactgcagaagaaatgagtGcactaatagaagaacgggat	18	7	11	5	1	0	5	0	1	0	4	0	6	0	6	0	1	4	2	0	1	7	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:37777689G>T	ENST00000327441.7	+	10	1259	c.793G>T	c.(793-795)Gca>Tca	p.A265S	MIPOL1_ENST00000396294.2_Missense_Mutation_p.A265S|MIPOL1_ENST00000556451.1_Missense_Mutation_p.A234S|MIPOL1_ENST00000537471.1_Missense_Mutation_p.A265S|MIPOL1_ENST00000539062.2_Missense_Mutation_p.A234S|MIPOL1_ENST00000536774.1_Missense_Mutation_p.A84S|MIPOL1_ENST00000545536.1_Missense_Mutation_p.A234S	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	265						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGAAATGAGTGCACTAATAGA	0.353																																																	0													121	120	120					14																	37777689		2203	4300	6503	SO:0001583	missense	0			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.793G>T	14.37:g.37777689G>T	ENSP00000333539:p.Ala265Ser		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	NULL	p.A265S	ENST00000327441.7	37	c.793	CCDS9664.1	14	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386741	0.61956	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.59906	0.28;0.28;0.23;0.28;0.28;0.23	5.65	4.75	0.60458	.	0.110450	0.64402	D	0.000009	T	0.67144	0.2862	M	0.69823	2.125	0.36075	D	0.842395	P;P	0.52842	0.956;0.956	P;P	0.53102	0.718;0.671	T	0.73760	-0.3881	10	0.39692	T	0.17	-10.1181	14.8533	0.70316	0.0701:0.0:0.9298:0.0	.	265;234	Q8TD10;Q49AL5	MIPO1_HUMAN;.	S	265;84;234;234;265;265;234	ENSP00000333539:A265S;ENSP00000438319:A234S;ENSP00000450479:A234S;ENSP00000379589:A265S;ENSP00000444254:A265S;ENSP00000442529:A234S	ENSP00000333539:A265S	A	+	1	0	MIPOL1	36847440	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	3.436000	0.52856	2.662000	0.90505	0.591000	0.81541	GCA	MIPOL1	-	NULL	ENSG00000151338		0.353	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPOL1	HGNC	protein_coding	OTTHUMT00000276734.1	-	0	38	0	G	NM_138731		37777689	1	tier1	-	no_errors	ENST00000327441	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.999	T	T	37777689	G	T	37777689	3	4	35	1	0	0	0	0	1	0	0	0	9631	1319	46	3	819	3	MIPOL1	14	37777689	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	8540474	37777689	69571851	152	8511											
ARID4A	5926	genome.wustl.edu	37	chr14	58831520	58831520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaattttgaacagcactttGaaagagaaaatgaaggaatg	19	10	9	3	0	0	4	0	3	0	1	0	6	0	5	0	1	2	1	0	1	8	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:58831520G>C	ENST00000355431.3	+	20	3086	c.2713G>C	c.(2713-2715)Gaa>Caa	p.E905Q	ARID4A_ENST00000348476.3_Missense_Mutation_p.E905Q|ARID4A_ENST00000395168.3_Missense_Mutation_p.E905Q|ARID4A_ENST00000431317.2_Missense_Mutation_p.E905Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	905					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACAGCACTTTGAAAGAGAAAA	0.363																																																	0													74	72	73					14																	58831520		2203	4299	6502	SO:0001583	missense	0			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"-"	9885	protein-coding gene	gene with protein product		180201	"retinoblastoma-binding protein 1"	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2713G>C	14.37:g.58831520G>C	ENSP00000347602:p.Glu905Gln		Q15991|Q15992|Q15993	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.E905Q	ENST00000355431.3	37	c.2713	CCDS9732.1	14	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310445	0.23821	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.17854	2.31;2.29;2.31;2.29;2.25	5.59	5.59	0.84812	.	0.560643	0.19978	N	0.101831	T	0.13243	0.0321	L	0.47716	1.5	0.28064	N	0.932854	P;P;P	0.41848	0.763;0.501;0.763	B;B;B	0.39840	0.311;0.086;0.178	T	0.09751	-1.0660	10	0.10636	T	0.68	-13.1928	6.5014	0.22170	0.1149:0.1814:0.7037:0.0	.	905;905;905	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	Q	905;905;905;905;583	ENSP00000347602:E905Q;ENSP00000344556:E905Q;ENSP00000378597:E905Q;ENSP00000397368:E905Q;ENSP00000416053:E583Q	ENSP00000344556:E905Q	E	+	1	0	ARID4A	57901273	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.088000	0.57678	2.638000	0.89438	0.650000	0.86243	GAA	ARID4A	-	NULL	ENSG00000032219		0.363	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	-	0	50	0	G	NM_023001		58831520	1	tier1	-	no_errors	ENST00000355431	ensembl	human	known	74_37	missense	39.39	39	26	SNP	1.000	C	C	58831520	G	C	58831520	3	2	35	1	0	0	0	0	1	0	0	0	919	1291	45	5	2787	5	ARID4A	14	58831520	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	21053831	58831520	48518020	153	8512											
FUT8	2530	genome.wustl.edu	37	chr14	66136012	66136012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgtaatatcaacaaaGgctgtggctatggctgtcag	10	12	13	6	0	2	0	2	0	0	0	2	0	2	0	0	4	1	4	0	4	5	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:66136012G>T	ENST00000360689.5	+	7	2376	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C	FUT8_ENST00000557164.1_Missense_Mutation_p.G54C|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000394585.1_Missense_Mutation_p.G217C|FUT8_ENST00000394586.2_Missense_Mutation_p.G217C|FUT8_ENST00000417683.1_5'Flank|FUT8_ENST00000358307.2_Missense_Mutation_p.G88C	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	217	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TATCAACAAAGGCTGTGGCTA	0.448																																																	0													122	109	113					14																	66136012		2203	4300	6503	SO:0001583	missense	0			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.649G>T	14.37:g.66136012G>T	ENSP00000353910:p.Gly217Cys		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.G217C	ENST00000360689.5	37	c.649	CCDS9775.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.138224	0.94560	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.95281	0.8469	M	0.81497	2.545	0.80722	D	1	D;D	0.63880	0.99;0.993	P;P	0.56700	0.735;0.804	D	0.95490	0.8568	10	0.87932	D	0	-8.4026	17.6669	0.88205	0.0:0.0:1.0:0.0	.	88;217	G3XAD2;Q9BYC5	.;FUT8_HUMAN	C	217;217;54;217;88	ENSP00000353910:G217C;ENSP00000378087:G217C;ENSP00000452433:G54C;ENSP00000378086:G217C;ENSP00000351057:G88C	ENSP00000345865:G217C	G	+	1	0	FUT8	65205765	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.768000	0.95171	0.655000	0.94253	GGC	FUT8	-	pirsf_Alpha1_6FUT_euk	ENSG00000033170		0.448	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1		0	69	0	G	NM_004480		66136012	1			no_errors	ENST00000360689	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	66136012	G	T	66136012	3	4	35	1	0	0	0	0	1	0	0	0	6134	1000	35	3	766	3	FUT8	14	66136012	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	7304492	66136012	41213528	154	8513											
PCNX	22990	genome.wustl.edu	37	chr14	71495426	71495426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtctagccactacaaGcctgcttgcagcactttaca	9	12	6	14	0	1	0	0	0	1	0	2	0	2	0	3	0	7	3	3	0	4	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:71495426G>T	ENST00000304743.2	+	16	3922	c.3476G>T	c.(3475-3477)aGc>aTc	p.S1159I	PCNX_ENST00000238570.5_Missense_Mutation_p.S1159I|PCNX_ENST00000439984.3_Missense_Mutation_p.S1048I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1159						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCCACTACAAGCCTGCTTGCA	0.303																																																	0													118	107	110					14																	71495426		2203	4300	6503	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3476G>T	14.37:g.71495426G>T	ENSP00000304192:p.Ser1159Ile		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.S1159I	ENST00000304743.2	37	c.3476	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.015523|4.015523	0.75161|0.75161	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.13196	.|3.0;2.93;2.61	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42743|0.42743	0.1216|0.1216	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.71674	.|0.997;0.997;0.998	.|D;D;D	.|0.80764	.|0.994;0.92;0.991	T|T	0.40175|0.40175	-0.9577|-0.9577	5|10	.|0.87932	.|D	.|0	.|.	19.2986|19.2986	0.94134|0.94134	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1159;1048;1159	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	S|I	218|1159;1159;1048	.|ENSP00000304192:S1159I;ENSP00000238570:S1159I;ENSP00000396617:S1048I	.|ENSP00000238570:S1159I	A|S	+|+	1|2	0|0	PCNX|PCNX	70565179|70565179	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.532000|0.532000	0.34746|0.34746	9.298000|9.298000	0.96132|0.96132	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GCC|AGC	PCNX	-	NULL	ENSG00000100731		0.303	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0	63	0	G	NM_014982		71495426	1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	71495426	G	T	71495426	3	4	35	1	0	0	0	0	1	0	0	0	11630	971	34	3	3538	3	PCNX	14	71495426	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5359414	71495426	35854114	155	8514											
BATF	10538	genome.wustl.edu	37	chr14	75991427	75991427	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccgtctctgcttcccagGactcatctgatgatgtgaga	7	12	9	13	1	3	3	1	3	2	1	6	5	5	4	3	1	1	1	3	1	0	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:75991427G>T	ENST00000286639.6	+	2	322	c.64G>T	c.(64-66)Gac>Tac	p.D22Y	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Splice_Site_p.D22Y	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	22					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		TGCTTCCCAGGACTCATCTGA	0.547																																																	0													62	57	58					14																	75991427		2203	4300	6503	SO:0001630	splice_region_variant	0			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.64-1G>T	14.37:g.75991427G>T				Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.D22Y	ENST00000286639.6	37	c.64	CCDS9843.1	14	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200332	0.79015	.	.	ENSG00000156127	ENST00000286639;ENST00000555504	T	0.78707	-1.2	5.71	5.71	0.89125	.	0.112644	0.64402	D	0.000010	T	0.79281	0.4419	L	0.48642	1.525	0.80722	D	1	D	0.56968	0.978	P	0.49140	0.601	T	0.77446	-0.2585	9	.	.	.	-11.3682	19.8677	0.96824	0.0:0.0:1.0:0.0	.	22	Q16520	BATF_HUMAN	Y	22	ENSP00000286639:D22Y	.	D	+	1	0	BATF	75061180	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.194000	0.77789	2.709000	0.92574	0.655000	0.94253	GAC	BATF	-	prints_Leuzip_Fos	ENSG00000156127		0.547	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF	HGNC	protein_coding	OTTHUMT00000413669.1		0	50	0	G	NM_006399	Missense_Mutation	75991427	1			no_errors	ENST00000286639	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	75991427	G	T	75991427	5	4	35	1	0	0	0	0	0	0	1	0	1326	1188	41	3	70	3	BATF	14	75991427	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	4496001	75991427	31358113	156	8515											
C14orf145	145508	genome.wustl.edu	37	chr14	81366373	81366373	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgatgaaaaccatgaaGctagcaaaggcaaaacacag	20	4	9	8	0	0	4	0	3	0	1	0	4	0	4	1	1	4	3	1	1	7	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr14:81366373G>T	ENST00000555265.1	-	7	856	c.481C>A	c.(481-483)Ctt>Att	p.L161I	CEP128_ENST00000281129.3_Splice_Site_p.L161I|CEP128_ENST00000216517.6_Splice_Site_p.L161I|CEP128_ENST00000327841.2_Splice_Site_p.L101I			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	161						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						AAACCATGAAGCTAGCAAAGG	0.398																																																	0													66	69	68					14																	81366373		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.481-1C>A	14.37:g.81366373G>T			B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.L161I	ENST00000555265.1	37	c.481	CCDS32130.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.106743|3.106743	0.56291|0.56291	.|.	.|.	ENSG00000100629|ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529|ENST00000554827	T;T;T;T|.	0.54479|.	1.34;1.34;0.75;0.57|.	5.51|5.51	-1.01|-1.01	0.10169|0.10169	.|.	0.768751|.	0.11793|.	N|.	0.529017|.	T|T	0.24431|0.24431	0.0592|0.0592	N|N	0.20986|0.20986	0.625|0.625	0.32002|0.32002	N|N	0.603257|0.603257	P;P;P|.	0.51351|.	0.944;0.562;0.562|.	P;B;B|.	0.45276|.	0.475;0.275;0.275|.	T|T	0.34030|0.34030	-0.9845|-0.9845	10|5	0.22109|.	T|.	0.4|.	.|.	3.6597|3.6597	0.08234|0.08234	0.4164:0.0:0.306:0.2776|0.4164:0.0:0.306:0.2776	.|.	161;42;161|.	Q6ZU80-3;Q8N3Z7;Q6ZU80|.	.;.;CE128_HUMAN|.	I|R	161;161;161;161;101;161|39	ENSP00000281129:L161I;ENSP00000451162:L161I;ENSP00000216517:L161I;ENSP00000451137:L161I|.	ENSP00000216517:L161I|.	L|S	-|-	1|3	0|2	CEP128|CEP128	80436126|80436126	0.521000|0.521000	0.26258|0.26258	0.900000|0.900000	0.35374|0.35374	0.974000|0.974000	0.67602|0.67602	-0.514000|-0.514000	0.06298|0.06298	-0.533000|-0.533000	0.06323|0.06323	-0.225000|-0.225000	0.12378|0.12378	CTT|AGC	CEP128	-	NULL	ENSG00000100629		0.398	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1		0	34	0	G	NM_152446	Missense_Mutation	81366373	-1			no_errors	ENST00000281129	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.977	T	T	81366373	G	T	81366373	5	4	35	1	0	0	0	0	0	0	1	0	1754	985	34	3	2879	3	C14orf145	14	81366373	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5374946	81366373	25983167	157	8516											
TUBGCP5	114791	genome.wustl.edu	37	chr15	22846926	22846926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggttttggttactgaGactcaggttattcgggaaac	10	12	13	6	1	1	1	1	1	0	1	2	4	1	2	0	4	2	3	0	4	3	5	rs549962518		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr15:22846926G>C	ENST00000283645.4	+	8	931	c.801G>C	c.(799-801)gaG>gaC	p.E267D	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E267D	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	267					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGGTTACTGAGACTCAGGTTA	0.353																																																	0													137	118	124					15																	22846926		2203	4300	6503	SO:0001583	missense	0			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"gamma-tubulin complex component GCP5"	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.801G>C	15.37:g.22846926G>C	ENSP00000283645:p.Glu267Asp		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_TUBGCP	p.E267D	ENST00000283645.4	37	c.801	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	.	18.96	3.734379	0.69189	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.67865	-0.29;-0.27	4.79	1.57	0.23409	.	0.058995	0.64402	D	0.000003	T	0.52917	0.1764	L	0.34521	1.04	0.50632	D	0.999889	P;P	0.50819	0.939;0.939	P;P	0.45167	0.472;0.472	T	0.51996	-0.8634	10	0.72032	D	0.01	-25.2648	5.5673	0.17177	0.6162:0.0:0.3838:0.0	.	267;267	Q96RT8;E9PB12	GCP5_HUMAN;.	D	267	ENSP00000283645:E267D;ENSP00000409217:E267D	ENSP00000283645:E267D	E	+	3	2	TUBGCP5	20398367	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	2.374000	0.44274	0.585000	0.29608	0.655000	0.94253	GAG	TUBGCP5	-	NULL	ENSG00000153575		0.353	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	-	0	86	0	G	NM_052903		22846926	1	tier1	-	no_errors	ENST00000283645	ensembl	human	known	74_37	missense	34.29	69	36	SNP	1.000	C	C	22846926	G	C	22846926	3	2	35	1	0	0	0	0	1	0	0	0	16818	933	33	5	831	5	TUBGCP5	15	22846926	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		22846926	79684466	158	8517											
TRPM1	4308	genome.wustl.edu	37	chr15	31334235	31334235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccatggccttgtagagcTtgcaggccaccagggccttg	6	8	15	12	0	0	1	0	0	0	1	0	1	0	1	5	4	2	3	5	4	1	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr15:31334235T>G	ENST00000256552.6	-	17	2153	c.2006A>C	c.(2005-2007)aAg>aCg	p.K669T	TRPM1_ENST00000542188.1_Missense_Mutation_p.K686T|TRPM1_ENST00000397795.2_Missense_Mutation_p.K647T|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTGTAGAGCTTGCAGGCCAC	0.562																																																	0													68	73	71					15																	31334235		2182	4293	6475	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2006A>C	15.37:g.31334235T>G	ENSP00000256552:p.Lys669Thr			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.K686T	ENST00000256552.6	37	c.2057	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615250	0.87359	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.71579	-0.58;-0.58;-0.58	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84133	0.5405	M	0.81682	2.555	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.86795	0.1988	10	0.87932	D	0	-29.6931	14.5002	0.67716	0.0:0.0:0.0:1.0	.	641;647	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	T	647;686;669;647	ENSP00000380897:K647T;ENSP00000437849:K686T;ENSP00000256552:K669T	ENSP00000256552:K669T	K	-	2	0	TRPM1	29121527	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.974000	0.88039	1.869000	0.54173	0.533000	0.62120	AAG	TRPM1	-	NULL	ENSG00000134160		0.562	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	46	0	T	NM_002420		31334235	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	46.15	42	36	SNP	1.000	G	G	31334235	T	G	31334235	3	3	35	1	0	0	0	0	1	0	0	0	16633	1609	56	4	2919	4	TRPM1	15	31334235	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	8487309	31334235	71197157	159	8518											
UBR1	197131	genome.wustl.edu	37	chr15	43351345	43351345	+	Frame_Shift_Del	DEL	G	G	-																															gacagggattctccgagtcaGgttcttctctaaggcatgct																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr15:43351345delG	ENST00000290650.4	-	9	1109	c.1031delC	c.(1030-1032)cctfs	p.P344fs	UBR1_ENST00000382177.2_Frame_Shift_Del_p.P344fs	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	344					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CTCCGAGTCAGGTTCTTCTCT	0.388																																																	0													78	77	77					15																	43351345		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1031delC	15.37:g.43351345delG	ENSP00000290650:p.Pro344fs		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Frame_Shift_Del	DEL	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P344fs	ENST00000290650.4	37	c.1031	CCDS10091.1	15																																																																																			UBR1	-	NULL	ENSG00000159459		0.388	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0	28	0	G	NM_174916		43351345	-1	tier1		no_errors	ENST00000290650	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.996	-	-	43351345	G	-	43351345	7	5	35	1	0	1	0	1	0	0	0	0	16950	1000	35	0	4374	0	UBR1	15	43351345	Frame_Shift_Del	DEL	G	TCGA-JY-A6FA-01A-11D-A33E-09	12017110	43351345	59180047	160	8519											
DUOX2	50506	genome.wustl.edu	37	chr15	45399110	45399110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagtcaagcacagtcaggGgtgcacactggggcaggccg	11	4	16	10	1	2	1	2	0	0	1	2	1	2	1	1	5	2	3	1	5	2	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr15:45399110G>A	ENST00000603300.1	-	15	1953	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	DUOX2_ENST00000389039.6_Missense_Mutation_p.P584L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	584	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACAGTCAGGGGTGCACACTG	0.582																																																	0													61	54	56					15																	45399110		2195	4295	6490	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1751C>T	15.37:g.45399110G>A	ENSP00000475084:p.Pro584Leu		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.P584L	ENST00000603300.1	37	c.1751	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121368	0.37436	.	.	ENSG00000140279	ENST00000389039	.	.	.	4.99	4.05	0.47172	.	0.273076	0.41938	D	0.000783	T	0.57681	0.2070	M	0.71581	2.175	0.58432	D	0.999992	B;P	0.37548	0.311;0.599	B;B	0.38156	0.197;0.266	T	0.57590	-0.7785	9	0.33141	T	0.24	-6.2045	14.2831	0.66226	0.0:0.1498:0.8502:0.0	.	584;146	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	L	584	.	ENSP00000373691:P584L	P	-	2	0	DUOX2	43186402	0.382000	0.25148	0.086000	0.20670	0.004000	0.04260	2.328000	0.43867	1.049000	0.40321	0.462000	0.41574	CCC	DUOX2	-	superfamily_Haem_peroxidase	ENSG00000140279		0.582	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		-	0	34	0	G	NM_014080		45399110	-1	tier1	-	no_errors	ENST00000389039	ensembl	human	known	74_37	missense	42.37	34	25	SNP	0.817	A	A	45399110	G	A	45399110	3	1	35	1	0	0	0	0	1	0	0	0	4815	1232	43	3	2975	3	DUOX2	15	45399110	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	2047765	45399110	57132282	161	8520											
SECISBP2L	9728	genome.wustl.edu	37	chr15	49319599	49319599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcagtttgccttccacctCtagaaaatgtctgatttttt	8	18	6	9	0	3	2	1	1	2	1	4	2	4	2	3	0	1	2	3	0	3	7			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr15:49319599C>G	ENST00000559471.1	-	7	1261	c.998G>C	c.(997-999)aGa>aCa	p.R333T	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R333T	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	333							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTTCCACCTCTAGAAAATGT	0.328																																																	0													123	122	122					15																	49319599		2197	4294	6491	SO:0001583	missense	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.998G>C	15.37:g.49319599C>G	ENSP00000453854:p.Arg333Thr		Q8N767	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R333T	ENST00000559471.1	37	c.998	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095376	0.76870	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D;T	0.89050	-2.46;-0.97	5.95	5.01	0.66863	.	0.043826	0.85682	D	0.000000	D	0.92802	0.7711	M	0.61703	1.905	0.47547	D	0.999457	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.91565	0.5267	10	0.31617	T	0.26	.	14.3124	0.66424	0.0:0.9263:0.0:0.0737	.	333;333	Q93073;Q93073-2	SBP2L_HUMAN;.	T	333	ENSP00000261847:R333T;ENSP00000370314:R333T	ENSP00000261847:R333T	R	-	2	0	SECISBP2L	47106891	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.381000	0.59587	1.460000	0.47911	0.655000	0.94253	AGA	SECISBP2L	-	NULL	ENSG00000138593		0.328	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	-	0	71	0	C	NM_014701		49319599	-1	tier1	-	no_errors	ENST00000559471	ensembl	human	known	74_37	missense	43.02	49	37	SNP	1.000	G	G	49319599	C	G	49319599	3	3	35	1	0	0	0	0	1	0	0	0	14052	913	32	5	2216	5	SECISBP2L	15	49319599	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	3920489	49319599	53211793	162	8521											
ATP8B4	79895	genome.wustl.edu	37	chr15	50226248	50226248	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgacattacagtgtggcaGagagcaagtaacctaaggaa	15	8	11	7	0	1	2	0	1	1	1	1	4	1	3	1	2	3	3	1	2	5	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr15:50226248G>C	ENST00000284509.6	-	15	1560	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	ATP8B4_ENST00000559829.1_Silent_p.L473L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	473						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CAGTGTGGCAGAGAGCAAGTA	0.383																																																	0													132	123	126					15																	50226248		2196	4295	6491	SO:0001819	synonymous_variant	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1419C>G	15.37:g.50226248G>C			Q9H727	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L473	ENST00000284509.6	37	c.1419	CCDS32238.1	15																																																																																			ATP8B4	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000104043		0.383	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	-	0	35	0	G	NM_024837		50226248	-1	tier1	-	no_errors	ENST00000284509	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.979	C	C	50226248	G	C	50226248	2	2	35	1	0	0	0	0	0	0	0	1	1198	929	33	5		5	ATP8B4	15	50226248	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	906649	50226248	52305144	163	8522											
TMC5	79838	genome.wustl.edu	37	chr16	19501731	19501731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccagattgaagccttcagCtgactgtggcccttttcgag	8	12	10	11	1	1	3	1	2	0	1	2	4	1	3	3	1	3	1	3	1	2	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr16:19501731C>T	ENST00000396229.2	+	18	3337	c.2588C>T	c.(2587-2589)gCt>gTt	p.A863V	TMC5_ENST00000561503.1_Missense_Mutation_p.A504V|TMC5_ENST00000542583.2_Missense_Mutation_p.A863V|TMC5_ENST00000219821.5_Missense_Mutation_p.A617V|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000564959.1_Missense_Mutation_p.A546V|TMC5_ENST00000541464.1_Missense_Mutation_p.A811V|CTA-363E6.6_ENST00000561762.1_RNA	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	863					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGCCTTCAGCTGACTGTGGC	0.502																																																	0													188	164	172					16																	19501731		2197	4300	6497	SO:0001583	missense	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2588C>T	16.37:g.19501731C>T	ENSP00000379531:p.Ala863Val		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.A863V	ENST00000396229.2	37	c.2588	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739323	0.49045	.	.	ENSG00000103534	ENST00000541464;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.69306	-0.17;-0.26;-0.26;-0.39	5.41	0.491	0.16867	.	.	.	.	.	T	0.61311	0.2337	L	0.38531	1.155	0.09310	N	1	D;B;P;P;P	0.57257	0.979;0.147;0.929;0.883;0.938	P;B;P;B;B	0.53313	0.723;0.048;0.479;0.379;0.428	T	0.51537	-0.8693	9	0.25106	T	0.35	-2.2668	7.6725	0.28468	0.5078:0.4022:0.0:0.09	.	811;546;617;617;863	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8	.;.;.;.;TMC5_HUMAN	V	811;863;863;617;546	ENSP00000441227:A811V;ENSP00000379531:A863V;ENSP00000446274:A863V;ENSP00000219821:A617V	ENSP00000219821:A617V	A	+	2	0	TMC5	19409232	0.001000	0.12720	0.058000	0.19502	0.758000	0.43043	0.610000	0.24253	0.566000	0.29273	-0.367000	0.07326	GCT	TMC5	-	NULL	ENSG00000103534		0.502	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	-	0	63	0	C	NM_024780		19501731	1	tier1	-	no_errors	ENST00000396229	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.006	T	T	19501731	C	T	19501731	3	4	35	1	0	0	0	0	1	0	0	0	16035	797	28	3	2964	3	TMC5	16	19501731	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		19501731	70853022	164	8523											
ACSM3	6296	genome.wustl.edu	37	chr16	20787193	20787193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaaatccagccttctgGtggatcaacagaaatggaga	13	9	9	10	0	3	2	2	0	1	2	4	4	4	3	3	3	2	0	3	3	3	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr16:20787193G>T	ENST00000289416.5	+	3	727	c.252G>T	c.(250-252)tgG>tgT	p.W84C	ACSM3_ENST00000440284.2_Missense_Mutation_p.W84C|ACSM3_ENST00000450120.2_Missense_Mutation_p.W39C	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	84					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CAGCCTTCTGGTGGATCAACA	0.423																																																	0													118	129	125					16																	20787193		2201	4300	6501	SO:0001583	missense	0			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"Acyl-CoA synthetase family"	10522	protein-coding gene	gene with protein product		145505	"SA (rat hypertension-associated) homolog", "SA hypertension-associated homolog (rat)"	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.252G>T	16.37:g.20787193G>T	ENSP00000289416:p.Trp84Cys		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W84C	ENST00000289416.5	37	c.252	CCDS10589.1	16	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303722	0.81136	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.40225	1.04;1.04;1.04	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.58233	-0.7672	10	0.54805	T	0.06	-9.3119	20.3151	0.98650	0.0:0.0:1.0:0.0	.	39;84;84	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	C	84;84;39	ENSP00000289416:W84C;ENSP00000394565:W84C;ENSP00000395297:W39C	ENSP00000289416:W84C	W	+	3	0	ACSM3	20694694	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.158000	0.89649	2.809000	0.96659	0.467000	0.42956	TGG	ACSM3	-	NULL	ENSG00000005187		0.423	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM3	HGNC	protein_coding	OTTHUMT00000254414.2	-	0	62	0	G	NM_005622		20787193	1	tier1	-	no_errors	ENST00000289416	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T	T	20787193	G	T	20787193	3	4	35	1	0	0	0	0	1	0	0	0	185	1270	44	3	258	3	ACSM3	16	20787193	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	1285462	20787193	69567560	165	8524											
TUFM	25970	genome.wustl.edu	37	chr16	28855330	28855330	+	5'Flank	DEL	G	G	-																															cttgaccatgaccaggccccGccgcaagtcctcccgcttca																										TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr16:28855330delG	ENST00000322610.8	+	0	0				TUFM_ENST00000313511.3_Frame_Shift_Del_p.R339fs|MIR4721_ENST00000577590.1_RNA			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACCAGGCCCCGCCGCAAGTCC	0.647																																																	0													28	33	31					16																	28855330		2197	4300	6497	SO:0001631	upstream_gene_variant	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855330delG	Exception_encountered		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Frame_Shift_Del	DEL	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.R339fs	ENST00000322610.8	37	c.1015	CCDS53996.1	16																																																																																			TUFM	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_Transl_elong_EFTu/EF1A_bac/org	ENSG00000178952		0.647	SH2B1-001	KNOWN	basic|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000432666.1		0	119	0	G	NM_015503		28855330	-1	tier1		no_errors	ENST00000313511	ensembl	human	known	74_37	frame_shift_del	28.87	138	56	DEL	1.000	-	-	28855330	G	-	28855330	6	5	35	0	1	1	0	1	0	0	0	0	16820	1086	38	0		0	TUFM	16	28855330	5'Flank	DEL	G	TCGA-JY-A6FA-01A-11D-A33E-09	8068137	28855330	61499423	166	8525											
ITGAL	3683	genome.wustl.edu	37	chr16	30495433	30495433	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactctccactccctcacaGattggaaagcattttcagac	11	11	5	14	0	4	2	3	0	1	2	6	3	5	3	2	1	1	1	2	1	1	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr16:30495433G>A	ENST00000356798.6	+	9	1035		c.e9-1		RP11-297C4.3_ENST00000562525.1_RNA|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site|RNU7-61P_ENST00000515897.1_RNA|ITGAL_ENST00000454514.2_Splice_Site	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTCCCTCACAGATTGGAAAGC	0.483																																					NSCLC(110;1462 1641 3311 33990 49495)												0													114	111	112					16																	30495433		2197	4300	6497	SO:0001630	splice_region_variant	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.856-1G>A	16.37:g.30495433G>A			O43746|Q45H73|Q96HB1|Q9UBC8	Splice_Site	SNP	-	e9-1	ENST00000356798.6	37	c.856-1	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412359	0.62511	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3303	0.87261	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGAL	30402934	1.000000	0.71417	0.997000	0.53966	0.739000	0.42172	5.535000	0.67173	2.835000	0.97688	0.591000	0.81541	.	ITGAL	-	-	ENSG00000005844		0.483	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0	49	0	G		Intron	30495433	1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	splice_site	30.00	35	15	SNP	1.000	A	A	30495433	G	A	30495433	5	1	35	1	0	0	0	0	0	0	1	0	7913	956	33	3	889	3	ITGAL	16	30495433	Splice_Site	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	1640103	30495433	59859320	167	8526											
FAM65A	79567	genome.wustl.edu	37	chr16	67577003	67577004	+	Frame_Shift_Ins	INS	-	-	T																															ttcagacctttgcctggccaINStggctgtccagaccccagtc																								rs541606600		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr16:67577003_67577004insT	ENST00000379312.3	+	13	2447_2448	c.2326_2327insT	c.(2326-2328)atgfs	p.M776fs	FAM65A_ENST00000540839.3_Frame_Shift_Ins_p.M792fs|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Frame_Shift_Ins_p.M786fs|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000042381.4_Frame_Shift_Ins_p.M772fs|FAM65A_ENST00000422602.2_Frame_Shift_Ins_p.M792fs	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	776						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TTGCCTGGCCATGGCTGTCCAG	0.644																																																	0																																										SO:0001589	frameshift_variant	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2327dupT	16.37:g.67577004_67577004dupT	ENSP00000368614:p.Met776fs		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Frame_Shift_Ins	INS	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.M792fs	ENST00000379312.3	37	c.2374_2375	CCDS54028.1	16																																																																																			FAM65A	-	NULL	ENSG00000039523		0.644	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3		0	83	0	-	NM_024519		67577004	1	tier1		no_errors	ENST00000422602	ensembl	human	known	74_37	frame_shift_ins	41.84	57	41	INS	0.000:0.000	T	T	67577004	-	T	67577003	7	5	35	1	0	1	1	0	0	0	0	0	5621	217	8	0	2360	0	FAM65A	16	67577003	Frame_Shift_Ins	INS	-	TCGA-JY-A6FA-01A-11D-A33E-09	37081570	67577003	22777750	168	8527											
TP53	7157	genome.wustl.edu	37	chr17	7578257	7578257	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacacgcaaatttccttCcactcggataagatgctgag	11	10	7	13	2	0	2	0	1	0	1	4	3	3	3	3	1	1	2	3	1	2	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:7578257C>A	ENST00000269305.4	-	6	781	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	TP53_ENST00000413465.2_Nonsense_Mutation_p.E198*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E198*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E198*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E198*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E198*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	198	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E198*(27)|p.0?(8)|p.E198K(5)|p.?(5)|p.P191_E198>Q(3)|p.E105*(3)|p.E66*(3)|p.E198fs*11(2)|p.E198Q(2)|p.E198fs*7(1)|p.E198fs*49(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAATTTCCTTCCACTCGGATA	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	64	Substitution - Nonsense(33)|Whole gene deletion(8)|Substitution - Missense(7)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(2)|Deletion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)	urinary_tract(9)|breast(7)|ovary(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|lung(5)|prostate(5)|bone(4)|central_nervous_system(3)|oesophagus(3)|skin(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(2)|stomach(1)|soft_tissue(1)											112	100	104					17																	7578257		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.592G>T	17.37:g.7578257C>A	ENSP00000269305:p.Glu198*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E198*	ENST00000269305.4	37	c.592	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950903	0.53186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.9371	16.7921	0.85592	0.0:1.0:0.0:0.0	.	.	.	.	X	198;198;198;198;198;198;187;105;66;105;66	.	ENSP00000269305:E198X	E	-	1	0	TP53	7518982	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	86	0	C	NM_000546		7578257	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	81.89	23	104	SNP	1.000	A	A	7578257	C	A	7578257	4	1	35	1	0	0	0	0	0	1	0	0	16429	864	30	3	702	3	TP53	17	7578257	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		7578257	73616953	169	8528											
MYH3	4621	genome.wustl.edu	37	chr17	10550536	10550536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagaaagaatctggtaGaagatgtggtagcttctttc	11	15	11	4	0	2	4	0	0	2	4	3	4	2	4	0	2	1	4	0	2	6	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:10550536G>T	ENST00000583535.1	-	10	948	c.861C>A	c.(859-861)ttC>ttA	p.F287L	MYH3_ENST00000226209.7_Missense_Mutation_p.F287L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	287	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GAATCTGGTAGAAGATGTGGT	0.448																																																	0													105	103	104					17																	10550536		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.861C>A	17.37:g.10550536G>T	ENSP00000464317:p.Phe287Leu		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F287L	ENST00000583535.1	37	c.861	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514187	0.85389	.	.	ENSG00000109063	ENST00000226209	D	0.83837	-1.77	5.11	5.11	0.69529	Myosin head, motor domain (2);	.	.	.	.	D	0.93562	0.7945	H	0.98068	4.14	0.40521	D	0.980839	D	0.89917	1.0	D	0.75484	0.986	D	0.94374	0.7598	9	0.87932	D	0	.	9.2637	0.37627	0.1625:0.0:0.8374:0.0	.	287	P11055	MYH3_HUMAN	L	287	ENSP00000226209:F287L	ENSP00000226209:F287L	F	-	3	2	MYH3	10491261	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.223000	0.51231	2.821000	0.97095	0.555000	0.69702	TTC	MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109063		0.448	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	52	0	G	NM_002470		10550536	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	10550536	G	T	10550536	3	4	35	1	0	0	0	0	1	0	0	0	10074	933	33	3	5089	3	MYH3	17	10550536	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	2972279	10550536	70644674	170	8529											
SSH2	85464	genome.wustl.edu	37	chr17	27958092	27958092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagaaccaaattctttggCatactgcacaaggggcctct	12	10	8	11	0	2	1	0	0	2	1	2	1	2	1	2	3	3	2	2	3	5	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:27958092C>G	ENST00000269033.3	-	15	4190	c.4039G>C	c.(4039-4041)Gcc>Ccc	p.A1347P	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.A1374P	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1347					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTCTTTGGCATACTGCACA	0.517																																																	0													78	69	72					17																	27958092		2203	4300	6503	SO:0001583	missense	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.4039G>C	17.37:g.27958092C>G	ENSP00000269033:p.Ala1347Pro		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A1347P	ENST00000269033.3	37	c.4039	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343919	0.61073	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.71341	-0.56;-0.56	6.17	5.2	0.72013	.	0.391887	0.26911	N	0.021862	T	0.81098	0.4752	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74674	0.984;0.933	T	0.82559	-0.0397	10	0.72032	D	0.01	-15.0276	11.1392	0.48392	0.1298:0.8048:0.0:0.0654	.	1374;1347	F5H527;Q76I76	.;SSH2_HUMAN	P	1347;1374	ENSP00000269033:A1347P;ENSP00000444743:A1374P	ENSP00000269033:A1347P	A	-	1	0	SSH2	24982218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.700000	0.54786	1.606000	0.50161	-0.182000	0.12963	GCC	SSH2	-	NULL	ENSG00000141298		0.517	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0	25	0	C	NM_033389		27958092	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	G	G	27958092	C	G	27958092	3	3	35	1	0	0	0	0	1	0	0	0	15232	710	25	5	236	5	SSH2	17	27958092	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	17407556	27958092	53237118	171	8530											
NF1	4763	genome.wustl.edu	37	chr17	29670040	29670040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatagagtccagaggaagTatttatggcaatccggaatc	14	11	10	6	1	0	2	0	0	0	2	3	4	2	4	2	3	0	2	2	3	7	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:29670040T>C	ENST00000358273.4	+	48	7459	c.7076T>C	c.(7075-7077)gTa>gCa	p.V2359A	NF1_ENST00000444181.2_Missense_Mutation_p.V152A|NF1_ENST00000356175.3_Missense_Mutation_p.V2338A|NF1_ENST00000417592.2_Missense_Mutation_p.V72A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2359					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAGAGGAAGTATTTATGGCA	0.373			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											95	98	97					17																	29670040		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7076T>C	17.37:g.29670040T>C	ENSP00000351015:p.Val2359Ala		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.V2359A	ENST00000358273.4	37	c.7076	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821199	0.90873	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.64085	2.88;3.02;2.71;-0.08	5.53	5.53	0.82687	Armadillo-type fold (2);	0.065085	0.64402	D	0.000011	T	0.77778	0.4181	M	0.74881	2.28	0.58432	D	0.999998	P;B	0.52577	0.954;0.138	D;B	0.67900	0.954;0.064	T	0.77378	-0.2610	10	0.38643	T	0.18	.	15.6743	0.77303	0.0:0.0:0.0:1.0	.	2338;2359	P21359-2;P21359	.;NF1_HUMAN	A	2359;2338;2004;152;72	ENSP00000351015:V2359A;ENSP00000348498:V2338A;ENSP00000389907:V2004A;ENSP00000396481:V152A	ENSP00000348498:V2338A	V	+	2	0	NF1	26694166	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.333000	0.79214	2.115000	0.64714	0.460000	0.39030	GTA	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.373	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	-	0	38	0	T	NM_000267		29670040	1	tier1	-	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	80.00	12	52	SNP	1.000	C	C	29670040	T	C	29670040	3	2	35	1	0	0	0	0	1	0	0	0	10395	1638	57	4	7327	4	NF1	17	29670040	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	1711948	29670040	51525170	172	8531											
WNK4	65266	genome.wustl.edu	37	chr17	40940199	40940199	+	Frame_Shift_Del	DEL	G	G	-																															ctggaagtgacttttcccccGgggacaggtatgttctggta																								rs61755602		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:40940199delG	ENST00000246914.5	+	9	1936	c.1915delG	c.(1915-1917)gggfs	p.G639fs	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	639					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.G639W(1)|p.G627W(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTTTCCCCCGGGGACAGGTA	0.537																																					Esophageal Squamous(6;201 374 4964 23855 42828)												2	Substitution - Missense(2)	lung(2)											177	181	179					17																	40940199		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1915delG	17.37:g.40940199delG	ENSP00000246914:p.Gly639fs		B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D640fs	ENST00000246914.5	37	c.1915	CCDS11439.1	17																																																																																			WNK4	-	NULL	ENSG00000126562		0.537	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1		0	41	0	G			40940199	1	tier1		no_errors	ENST00000246914	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.994	-	-	40940199	G	-	40940199	7	5	35	1	0	1	0	1	0	0	0	0	17429	1116	39	0	1949	0	WNK4	17	40940199	Frame_Shift_Del	DEL	G	TCGA-JY-A6FA-01A-11D-A33E-09	11270159	40940199	40255011	173	8532											
ITGB3	3690	genome.wustl.edu	37	chr17	45364556	45364556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctaatgacgggcagtgtCatgttggtagtgacaatcat	11	11	12	7	1	2	2	2	2	0	0	2	2	2	2	1	2	1	3	1	2	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:45364556C>T	ENST00000559488.1	+	6	914	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ITGB3_ENST00000560629.1_Missense_Mutation_p.S288L|ITGB3_ENST00000571680.1_Missense_Mutation_p.H300Y|ITGB3_ENST00000435993.2_Missense_Mutation_p.H253Y	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	300	VWFA.				activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CGGGCAGTGTCATGTTGGTAG	0.488																																																	0													182	121	141					17																	45364556		2203	4300	6503	SO:0001583	missense	0				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"CD molecules", "Integrins"	6156	protein-coding gene	gene with protein product	"platelet glycoprotein IIIa"	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.898C>T	17.37:g.45364556C>T	ENSP00000452786:p.His300Tyr		A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.H300Y	ENST00000559488.1	37	c.898	CCDS11511.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098395	0.56183	.	.	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.94046	-3.34	5.16	5.16	0.70880	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.094778	0.64402	D	0.000001	D	0.92485	0.7614	L	0.58101	1.795	0.80722	D	1	B;P	0.36282	0.105;0.546	B;B	0.38458	0.11;0.274	D	0.92973	0.6399	10	0.66056	D	0.02	.	17.7616	0.88466	0.0:1.0:0.0:0.0	.	300;300	P05106;Q2YFE1	ITB3_HUMAN;.	Y	300;253	ENSP00000407801:H253Y	ENSP00000262017:H300Y	H	+	1	0	C17orf57	42719555	1.000000	0.71417	0.952000	0.39060	0.986000	0.74619	4.892000	0.63193	2.562000	0.86427	0.561000	0.74099	CAT	ITGB3	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000259207		0.488	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB3	HGNC	protein_coding	OTTHUMT00000416111.3	-	0	52	0	C	NM_000212		45364556	1	tier1	-	no_errors	ENST00000559488	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	T	T	45364556	C	T	45364556	3	4	35	1	0	0	0	0	1	0	0	0	7922	826	29	3	920	3	ITGB3	17	45364556	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	4424357	45364556	35830654	174	8533											
MYCBPAP	84073	genome.wustl.edu	37	chr17	48597123	48597123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcactcacatcaggaaGccccactccatccgggtgga	10	6	8	17	1	3	0	3	0	0	0	5	2	5	2	5	3	1	0	5	3	1	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:48597123G>T	ENST00000323776.5	+	7	1182	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	MYCBPAP_ENST00000468821.1_3'UTR|MYCBPAP_ENST00000436259.2_Missense_Mutation_p.K303N	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			ACATCAGGAAGCCCCACTCCA	0.582																																																	0													69	58	62					17																	48597123		2203	4300	6503	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1020G>T	17.37:g.48597123G>T	ENSP00000323184:p.Lys340Asn			Missense_Mutation	SNP	NULL	p.K340N	ENST00000323776.5	37	c.1020	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549667	0.45383	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.46063	0.88;0.88	5.75	4.78	0.61160	.	0.054130	0.64402	D	0.000001	T	0.61236	0.2331	M	0.80847	2.515	0.40522	D	0.980841	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.61753	-0.6998	10	0.38643	T	0.18	-37.3882	8.1715	0.31258	0.2496:0.0:0.7504:0.0	.	303;340	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	N	340;303	ENSP00000323184:K340N;ENSP00000397209:K303N	ENSP00000323184:K340N	K	+	3	2	MYCBPAP	45952122	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	2.828000	0.48120	2.717000	0.92951	0.563000	0.77884	AAG	MYCBPAP	-	NULL	ENSG00000136449		0.582	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	-	0	39	0	G	NM_032133		48597123	1	tier1	-	no_errors	ENST00000323776	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	48597123	G	T	48597123	3	4	35	1	0	0	0	0	1	0	0	0	10057	962	34	3	1046	3	MYCBPAP	17	48597123	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	3232567	48597123	32598087	175	8534											
SEPT4	5414	genome.wustl.edu	37	chr17	56602457	56602457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accactctgtgttgttgactGcatccccaaaacctggtgtg	8	12	9	12	0	1	1	0	1	1	0	2	1	2	1	4	1	2	3	4	1	2	2	rs140251087		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:56602457G>A	ENST00000317268.3	-	5	820	c.644C>T	c.(643-645)gCa>gTa	p.A215V	SEPT4_ENST00000457347.2_Missense_Mutation_p.A230V|SEPT4_ENST00000583114.1_Missense_Mutation_p.A68V|SEPT4_ENST00000580809.1_Missense_Mutation_p.A97V|SEPT4_ENST00000412945.3_Missense_Mutation_p.A207V|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000579371.1_Missense_Mutation_p.A116V|SEPT4_ENST00000580844.1_Missense_Mutation_p.A116V|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.A196V|SEPT4_ENST00000317256.6_Missense_Mutation_p.A196V|SEPT4_ENST00000580791.1_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000426861.1_Missense_Mutation_p.A196V	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	215	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGTTGACTGCATCCCCAAA	0.512																																																	0								G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	364	290	315		620,644,587,587	5.1	1	17	dbSNP_134	315	0,8600		0,0,4300	no	missense,missense,missense,missense	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	207/471,215/479,196/275,196/460	56602457	1,13005	2203	4300	6503	SO:0001583	missense	0			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"Septins"	9165	protein-coding gene	gene with protein product	"bradeoin", "septin-M"	603696	"peanut-like 2 (Drosophila)"	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.644C>T	17.37:g.56602457G>A	ENSP00000321674:p.Ala215Val		B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase	p.A230V	ENST00000317268.3	37	c.689	CCDS11610.1	17	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714849	0.48622	2.27E-4	0.0	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.09	5.09	0.68999	.	0.125154	0.52532	D	0.000062	T	0.65533	0.2700	M	0.89601	3.045	0.80722	D	1	P;P;D;P;P;B;P	0.56287	0.795;0.666;0.975;0.823;0.795;0.274;0.829	P;B;P;P;P;B;P	0.49799	0.61;0.14;0.509;0.458;0.488;0.224;0.622	T	0.75121	-0.3429	10	0.66056	D	0.02	.	16.343	0.83101	0.0:0.0:1.0:0.0	.	207;230;68;196;196;68;215	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	V	207;229;196;215;196;196	ENSP00000414779:A207V;ENSP00000321071:A196V;ENSP00000321674:A215V;ENSP00000376801:A196V;ENSP00000402348:A196V	ENSP00000321071:A196V	A	-	2	0	SEPT4	53957456	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.772000	0.98984	2.521000	0.84997	0.650000	0.86243	GCA	SEPT4	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase	ENSG00000108387		0.512	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1		0	25	0	G	NM_080417		56602457	-1			no_errors	ENST00000457347	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	56602457	G	A	56602457	3	1	35	1	0	0	0	0	1	0	0	0	14111	1319	46	3	909	3	SEPT4	17	56602457	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	8005334	56602457	24592753	176	8535											
CLTC	1213	genome.wustl.edu	37	chr17	57758783	57758783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgccatcagcaatgagctgTttgaagaagcatttgccatt	11	12	9	9	1	1	3	1	2	0	1	2	3	1	3	2	0	4	4	2	0	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:57758783T>C	ENST00000269122.3	+	20	3467	c.3193T>C	c.(3193-3195)Ttt>Ctt	p.F1065L	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.F1065L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1065	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CAATGAGCTGTTTGAAGAAGC	0.393			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													103	99	100					17																	57758783		2203	4300	6503	SO:0001583	missense	0			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.3193T>C	17.37:g.57758783T>C	ENSP00000269122:p.Phe1065Leu		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.F1065L	ENST00000269122.3	37	c.3193	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	T	22.5	4.294377	0.81025	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.18960	2.18;2.18	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.046454	0.85682	D	0.000000	T	0.32704	0.0838	M	0.78223	2.4	0.80722	D	1	B;B	0.14012	0.009;0.003	B;B	0.28991	0.097;0.026	T	0.12656	-1.0539	10	0.56958	D	0.05	.	15.7856	0.78300	0.0:0.0:0.0:1.0	.	1065;1065	Q00610;Q00610-2	CLH1_HUMAN;.	L	1065	ENSP00000269122:F1065L;ENSP00000376763:F1065L	ENSP00000269122:F1065L	F	+	1	0	CLTC	55113565	1.000000	0.71417	0.927000	0.36925	0.972000	0.66771	7.997000	0.88414	2.186000	0.69663	0.455000	0.32223	TTT	CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000141367		0.393	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	-	0	39	0	T	NM_004859		57758783	1	tier1	-	no_errors	ENST00000269122	ensembl	human	known	74_37	missense	49.02	26	25	SNP	0.999	C	C	57758783	T	C	57758783	3	2	35	1	0	0	0	0	1	0	0	0	3573	1725	60	4	3271	4	CLTC	17	57758783	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	1156326	57758783	23436427	177	8536											
DDX5	1655	genome.wustl.edu	37	chr17	62499111	62499111	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggtttgcactcagttCaagtgcaccaatgtttatat	9	16	9	7	0	2	0	2	0	0	0	2	0	2	0	1	1	2	6	1	1	4	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:62499111C>A	ENST00000225792.5	-	8	1317	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Nonsense_Mutation_p.E306*|DDX5_ENST00000450599.2_Nonsense_Mutation_p.E227*|MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	306					cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCACTCAGTTCAAGTGCACCA	0.373			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													129	124	126					17																	62499111		2203	4300	6503	SO:0001587	stop_gained	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.916G>T	17.37:g.62499111C>A	ENSP00000225792:p.Glu306*		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E306*	ENST00000225792.5	37	c.916	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.247972	0.97412	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.91	5.91	0.95273	.	0.094013	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-17.268	20.2985	0.98592	0.0:1.0:0.0:0.0	.	.	.	.	X	306;236;295	.	ENSP00000225792:E295X	E	-	1	0	DDX5	59929573	1.000000	0.71417	0.974000	0.42286	0.927000	0.56198	4.845000	0.62853	2.793000	0.96121	0.655000	0.94253	GAA	DDX5	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd	ENSG00000108654		0.373	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	-	0	40	0	C	NM_004396		62499111	-1	tier1	-	no_errors	ENST00000225792	ensembl	human	known	74_37	nonsense	51.95	36	40	SNP	1.000	A	A	62499111	C	A	62499111	4	1	35	1	0	0	0	0	0	1	0	0	4376	835	29	3	952	3	DDX5	17	62499111	Nonsense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	4740328	62499111	18696099	178	8537											
GGA3	23163	genome.wustl.edu	37	chr17	73235928	73235928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtgcagcgcgctgttgcCcaacgccaagccatggtgcc	6	7	14	14	3	0	0	0	0	0	0	0	0	0	0	4	2	6	3	4	2	2	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:73235928C>A	ENST00000245541.6	-	13	1741	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C	GGA3_ENST00000582486.1_Missense_Mutation_p.G437C|GGA3_ENST00000351904.7_Missense_Mutation_p.G476C|GGA3_ENST00000578348.1_Missense_Mutation_p.G387C|GGA3_ENST00000582717.1_Missense_Mutation_p.G437C|GGA3_ENST00000538886.1_Missense_Mutation_p.G387C	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	509	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GCGCTGTTGCCCAACGCCAAG	0.617																																																	0													59	42	48					17																	73235928		2203	4298	6501	SO:0001583	missense	0			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1525G>T	17.37:g.73235928C>A	ENSP00000245541:p.Gly509Cys		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.G509C	ENST00000245541.6	37	c.1525	CCDS11717.1	17	.	.	.	.	.	.	.	.	.	.	C	2.451	-0.326407	0.05350	.	.	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T	0.48201	2.18;0.82	4.43	0.0169	0.14110	.	1.042900	0.07512	N	0.909070	T	0.28499	0.0705	N	0.14661	0.345	0.80722	D	1	B;B;B	0.15473	0.008;0.013;0.008	B;B;B	0.17433	0.013;0.018;0.008	T	0.12016	-1.0564	10	0.59425	D	0.04	-35.9812	4.01	0.09618	0.1318:0.5951:0.1275:0.1457	.	387;476;509	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	C	509;476;437;387	ENSP00000245541:G509C;ENSP00000326575:G476C	ENSP00000245541:G509C	G	-	1	0	GGA3	70747523	0.248000	0.23930	0.002000	0.10522	0.002000	0.02628	0.730000	0.26043	-0.106000	0.12110	-0.140000	0.14226	GGC	GGA3	-	NULL	ENSG00000125447		0.617	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1	-	0	49	0	C	NM_138619		73235928	-1	tier1	-	no_errors	ENST00000245541	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.788	A	A	73235928	C	A	73235928	3	1	35	1	0	0	0	0	1	0	0	0	6380	623	22	3	754	3	GGA3	17	73235928	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	10736817	73235928	7959282	179	8538											
TBCD	6904	genome.wustl.edu	37	chr17	80847552	80847552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgctccgcaggccgccttCcaggagaatgtggggagaca	8	8	14	11	2	0	2	0	0	0	2	2	4	2	2	4	4	1	2	4	4	1	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr17:80847552C>A	ENST00000355528.4	+	16	1672	c.1542C>A	c.(1540-1542)ttC>ttA	p.F514L	TBCD_ENST00000397466.2_Missense_Mutation_p.F128L|TBCD_ENST00000539345.2_Missense_Mutation_p.F514L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	514					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGGCCGCCTTCCAGGAGAATG	0.498																																																	0													103	103	103					17																	80847552		1986	4164	6150	SO:0001583	missense	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1542C>A	17.37:g.80847552C>A	ENSP00000347719:p.Phe514Leu		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.F514L	ENST00000355528.4	37	c.1542	CCDS45818.1	17	.	.	.	.	.	.	.	.	.	.	c	25.7	4.661875	0.88251	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.58210	0.35;0.35	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66218	0.2767	L	0.46947	1.48	0.54753	D	0.99998	D;D;P	0.89917	0.999;1.0;0.854	D;D;P	0.91635	0.979;0.999;0.664	T	0.64613	-0.6366	9	.	.	.	.	16.9901	0.86351	0.0:1.0:0.0:0.0	.	514;514;514	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	L	514;265;128;514	ENSP00000347719:F514L;ENSP00000380608:F128L	.	F	+	3	2	TBCD	78440841	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.959000	0.49153	2.327000	0.79052	0.479000	0.44913	TTC	TBCD	-	superfamily_ARM-type_fold	ENSG00000141556		0.498	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	-	0	57	0	C	NM_005993		80847552	1	tier1	-	no_errors	ENST00000355528	ensembl	human	known	74_37	missense	27.18	75	28	SNP	1.000	A	A	80847552	C	A	80847552	3	1	35	1	0	0	0	0	1	0	0	0	15680	854	30	3	1604	3	TBCD	17	80847552	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	7611624	80847552	347658	180	8539											
PIGN	23556	genome.wustl.edu	37	chr18	59806282	59806282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgaagagatcagtgttGttaagataatccacaggaag	14	11	11	5	0	1	3	1	1	0	2	2	5	2	4	1	1	0	3	1	1	4	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr18:59806282G>T	ENST00000357637.5	-	13	1465	c.1050C>A	c.(1048-1050)aaC>aaA	p.N350K	PIGN_ENST00000400334.3_Missense_Mutation_p.N350K	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	350					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				GATCAGTGTTGTTAAGATAAT	0.348																																																	0													57	53	54					18																	59806282		1822	4084	5906	SO:0001583	missense	0			AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"Phosphatidylinositol glycan anchor biosynthesis"	8967	protein-coding gene	gene with protein product		606097	"phosphatidylinositol glycan, class N"			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.1050C>A	18.37:g.59806282G>T	ENSP00000350263:p.Asn350Lys		Q7L8F8|Q8TC01|Q9NT05	Missense_Mutation	SNP	pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.N350K	ENST00000357637.5	37	c.1050	CCDS45879.1	18	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681292	0.47991	.	.	ENSG00000197563	ENST00000357637;ENST00000400334	T;T	0.26373	1.74;1.74	5.77	2.97	0.34412	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	L	0.60455	1.87	0.58432	D	0.999998	P;P	0.38617	0.454;0.64	B;B	0.39379	0.235;0.298	T	0.01879	-1.1255	9	.	.	.	-17.9003	7.7818	0.29070	0.4124:0.0:0.5876:0.0	.	350;350	B2RCI8;O95427	.;PIGN_HUMAN	K	350	ENSP00000350263:N350K;ENSP00000383188:N350K	.	N	-	3	2	PIGN	57957262	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	0.950000	0.29122	0.343000	0.23821	-0.237000	0.12165	AAC	PIGN	-	pfam_Sulfatase	ENSG00000197563		0.348	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	PIGN	HGNC	protein_coding	OTTHUMT00000449757.2		0	50	0	G	NM_176787		59806282	-1			no_errors	ENST00000357637	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	59806282	G	T	59806282	3	4	35	1	0	0	0	0	1	0	0	0	11932	1368	48	3	1821	3	PIGN	18	59806282	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		59806282	18270966	181	8540											
ZNF516	9658	genome.wustl.edu	37	chr18	74154846	74154846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggcttctcgcccgtgtgCttgcgcatgtgctgcgaaag	5	11	14	11	4	1	0	0	0	1	0	2	1	1	0	1	1	4	4	1	1	2	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr18:74154846C>T	ENST00000443185.2	-	3	482	c.165G>A	c.(163-165)aaG>aaA	p.K55K	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	55					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGCCCGTGTGCTTGCGCATGT	0.632																																																	0													45	53	50					18																	74154846		2190	4297	6487	SO:0001819	synonymous_variant	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.165G>A	18.37:g.74154846C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K55	ENST00000443185.2	37	c.165		18																																																																																			ZNF516	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000101493		0.632	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		-	0	33	0	C	NM_014643		74154846	-1	tier1	-	no_errors	ENST00000443185	ensembl	human	known	74_37	silent	22.58	24	7	SNP	1.000	T	T	74154846	C	T	74154846	2	4	35	1	0	0	0	0	0	0	0	1	18008	796	28	3		3	ZNF516	18	74154846	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	14348564	74154846	3922402	182	8541											
SALL3	27164	genome.wustl.edu	37	chr18	76752159	76752159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcgtgtgcgagaaatgCtgcgccgagttcttcaagtg	9	9	13	10	4	2	1	1	0	1	1	2	3	2	1	2	0	4	2	2	0	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr18:76752159C>G	ENST00000537592.2	+	2	168	c.168C>G	c.(166-168)tgC>tgG	p.C56W	SALL3_ENST00000575389.2_Missense_Mutation_p.C56W|SALL3_ENST00000572928.1_3'UTR|SALL3_ENST00000536229.3_5'UTR	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	56					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCGAGAAATGCTGCGCCGAGT	0.706																																																	0													32	35	34					18																	76752159		2199	4299	6498	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.168C>G	18.37:g.76752159C>G	ENSP00000441823:p.Cys56Trp		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C56W	ENST00000537592.2	37	c.168	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874462	0.51695	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.54279	0.58	4.44	4.44	0.53790	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000010	T	0.76608	0.4011	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82478	-0.0437	10	0.87932	D	0	-33.1153	17.457	0.87610	0.0:1.0:0.0:0.0	.	56	Q9BXA9	SALL3_HUMAN	W	56	ENSP00000441823:C56W	ENSP00000299466:C56W	C	+	3	2	SALL3	74853147	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.979000	0.49313	2.197000	0.70478	0.561000	0.74099	TGC	SALL3	-	smart_Znf_C2H2-like	ENSG00000256463		0.706	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	-	0	58	0	C	NM_171999		76752159	1	tier1	-	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	34.29	46	24	SNP	1.000	G	G	76752159	C	G	76752159	3	3	35	1	0	0	0	0	1	0	0	0	13857	805	28	5	174	5	SALL3	18	76752159	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	2597313	76752159	1325089	183	8542											
CTDP1	9150	genome.wustl.edu	37	chr18	77473021	77473021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcattattgatgatcgaGaagatgtctggaagtttgcc	10	15	11	5	1	1	4	0	2	1	2	2	6	1	5	1	1	2	2	1	1	3	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr18:77473021G>A	ENST00000299543.7	+	7	1060	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	CTDP1_ENST00000075430.7_Missense_Mutation_p.E305K	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	305	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.			E -> K (in Ref. 1; AAD42088). {ECO:0000305}.	exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGATGATCGAGAAGATGTCTG	0.393																																																	0													100	98	98					18																	77473021		2203	4300	6503	SO:0001583	missense	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.913G>A	18.37:g.77473021G>A	ENSP00000299543:p.Glu305Lys		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.E305K	ENST00000299543.7	37	c.913	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673904	0.88445	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.16597	2.33;2.33	5.06	5.06	0.68205	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.20672	-1.0268	10	0.41790	T	0.15	-29.6338	18.7855	0.91952	0.0:0.0:1.0:0.0	.	186;305;305	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	K	305	ENSP00000299543:E305K;ENSP00000075430:E305K	ENSP00000075430:E305K	E	+	1	0	CTDP1	75574009	1.000000	0.71417	0.934000	0.37439	0.490000	0.33462	8.822000	0.92013	2.480000	0.83734	0.655000	0.94253	GAA	CTDP1	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_FCP1_euk	ENSG00000060069		0.393	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0	40	0	G	NM_004715		77473021	1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	missense	42.59	31	23	SNP	1.000	A	A	77473021	G	A	77473021	3	1	35	1	0	0	0	0	1	0	0	0	4011	943	33	3	939	3	CTDP1	18	77473021	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	720862	77473021	604227	184	8543											
JSRP1	126306	genome.wustl.edu	37	chr19	2254447	2254447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtcccagctactcacgtgGggcacgctgccggagtcggc	5	6	16	14	4	1	0	1	0	0	0	3	1	2	1	2	5	3	3	2	5	1	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:2254447G>A	ENST00000300961.6	-	3	208	c.144C>T	c.(142-144)ccC>ccT	p.P48P	JSRP1_ENST00000586471.2_Silent_p.P48P	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	48	Mediates interaction with CACNA1S. {ECO:0000250}.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACTCACGTGGGGCACGCTGC	0.662																																																	0													42	39	40					19																	2254447		2200	4300	6500	SO:0001819	synonymous_variant	0			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.144C>T	19.37:g.2254447G>A				Silent	SNP	NULL	p.P48	ENST00000300961.6	37	c.144	CCDS12086.1	19																																																																																			JSRP1	-	NULL	ENSG00000167476		0.662	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JSRP1	HGNC	protein_coding	OTTHUMT00000451266.2	-	0	73	0	G	NM_144616		2254447	-1	tier1	-	no_errors	ENST00000300961	ensembl	human	known	74_37	silent	28.57	70	28	SNP	0.027	A	A	2254447	G	A	2254447	2	1	35	1	0	0	0	0	0	0	0	1	7993	1219	43	3		3	JSRP1	19	2254447	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		2254447	56874536	185	8544											
TLE2	7089	genome.wustl.edu	37	chr19	3025060	3025060	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgagcgcagataccgctCagacgcttcacaatctccgc	10	8	8	15	4	4	3	2	1	2	2	5	3	4	3	2	0	2	3	2	0	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:3025060C>G	ENST00000262953.6	-	5	514	c.252G>C	c.(250-252)ctG>ctC	p.L84L	TLE2_ENST00000590536.1_Silent_p.L84L|TLE2_ENST00000591529.1_Silent_p.L97L|TLE2_ENST00000443826.3_Silent_p.L29L|TLE2_ENST00000426948.2_Silent_p.L97L|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Silent_p.L29L|TLE2_ENST00000586422.1_Silent_p.L29L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	84	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATACCGCTCAGACGCTTCA	0.627																																																	0													38	37	37					19																	3025060		1861	4100	5961	SO:0001819	synonymous_variant	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.252G>C	19.37:g.3025060C>G			B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L84	ENST00000262953.6	37	c.252	CCDS45911.1	19																																																																																			TLE2	-	pfam_Groucho/TLE_N	ENSG00000065717		0.627	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	-	0	70	0	C	NM_003260		3025060	-1	tier1	-	no_errors	ENST00000262953	ensembl	human	known	74_37	silent	47.71	57	52	SNP	0.998	G	G	3025060	C	G	3025060	2	3	35	1	0	0	0	0	0	0	0	1	15986	813	29	5		5	TLE2	19	3025060	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	770613	3025060	56103923	186	8545											
GTF2F1	2962	genome.wustl.edu	37	chr19	6380639	6380639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtcgacttcccagacaGgctctggggtcccgtgtcca	5	9	14	13	2	1	1	0	0	1	1	5	2	4	1	3	4	0	1	3	4	0	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:6380639G>T	ENST00000394456.5	-	12	1758	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Missense_Mutation_p.L347M	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	432					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TTCCCAGACAGGCTCTGGGGT	0.652																																																	0													81	67	72					19																	6380639		2203	4300	6503	SO:0001583	missense	0				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"General transcription factors"	4652	protein-coding gene	gene with protein product		189968	"general transcription factor IIF, polypeptide 1 (74kD subunit)"			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.1294C>A	19.37:g.6380639G>T	ENSP00000377969:p.Leu432Met		B2RCS0|Q9BWN0	Missense_Mutation	SNP	pfam_TFIIF-alpha,superfamily_TFIIF_interaction	p.L432M	ENST00000394456.5	37	c.1294	CCDS12165.1	19	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721779	0.48728	.	.	ENSG00000125651	ENST00000394456;ENST00000429701	T;T	0.44482	0.92;0.92	3.65	1.29	0.21616	.	0.280997	0.28778	N	0.014162	T	0.26011	0.0634	N	0.08118	0	0.26209	N	0.979335	P;P;P	0.49696	0.927;0.918;0.624	P;P;B	0.49752	0.616;0.621;0.425	T	0.06250	-1.0837	10	0.48119	T	0.1	-26.9737	5.9613	0.19301	0.1051:0.0:0.6174:0.2775	.	347;330;432	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	M	432;347	ENSP00000377969:L432M;ENSP00000392107:L347M	ENSP00000377969:L432M	L	-	1	2	GTF2F1	6331639	.	.	0.999000	0.59377	0.698000	0.40448	.	.	0.880000	0.35969	0.655000	0.94253	CTG	GTF2F1	-	pfam_TFIIF-alpha	ENSG00000125651		0.652	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F1	HGNC	protein_coding	OTTHUMT00000398033.1	-	0	46	0	G	NM_002096		6380639	-1	tier1	-	no_errors	ENST00000394456	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	6380639	G	T	6380639	3	4	35	1	0	0	0	0	1	0	0	0	6885	991	35	3	267	3	GTF2F1	19	6380639	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	3355579	6380639	52748344	187	8546											
DNMT1	1786	genome.wustl.edu	37	chr19	10254519	10254519	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttgggacagaagatctcTttgatccggccaattcggta	9	13	10	9	2	2	3	0	1	2	2	5	4	3	4	2	3	0	1	2	3	3	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:10254519T>C	ENST00000340748.4	-	28	3226	c.2991A>G	c.(2989-2991)aaA>aaG	p.K997K	DNMT1_ENST00000540357.1_Silent_p.K997K|DNMT1_ENST00000359526.4_Silent_p.K1013K|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	997	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGAAGATCTCTTTGATCCGGC	0.527																																																	0													256	245	249					19																	10254519		2203	4300	6503	SO:0001819	synonymous_variant	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2991A>G	19.37:g.10254519T>C			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.K1013	ENST00000340748.4	37	c.3039	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000130816		0.527	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	-	0	29	0	T	NM_001379		10254519	-1	tier1	-	no_errors	ENST00000359526	ensembl	human	known	74_37	silent	44.44	40	32	SNP	0.914	C	C	10254519	T	C	10254519	2	2	35	1	0	0	0	0	0	0	0	1	4689	1606	56	4		4	DNMT1	19	10254519	Silent	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	3873880	10254519	48874464	188	8547											
NOTCH3	4854	genome.wustl.edu	37	chr19	15300201	15300201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatagcatcctcgtggcaggGgttgctgacacaggcgtcat	8	9	14	10	2	1	1	1	1	0	0	3	2	2	1	1	4	2	4	1	4	1	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:15300201G>T	ENST00000263388.2	-	7	1150	c.1075C>A	c.(1075-1077)Ccc>Acc	p.P359T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	359	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGTGGCAGGGGTTGCTGACA	0.592																																																	0													91	96	94					19																	15300201		2203	4300	6503	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1075C>A	19.37:g.15300201G>T	ENSP00000263388:p.Pro359Thr		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P359T	ENST00000263388.2	37	c.1075	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242065	0.79912	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.95171	-3.63	4.68	4.68	0.58851	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.97841	0.9291	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99146	1.0857	9	0.87932	D	0	.	16.4553	0.84011	0.0:0.0:1.0:0.0	.	362;359	Q59FL3;Q9UM47	.;NOTC3_HUMAN	T	359;361	ENSP00000263388:P359T	ENSP00000263388:P359T	P	-	1	0	NOTCH3	15161201	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	9.280000	0.95786	2.175000	0.68902	0.306000	0.20318	CCC	NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.592	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	32	0	G	NM_000435		15300201	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	T	T	15300201	G	T	15300201	3	4	35	1	0	0	0	0	1	0	0	0	10589	1232	43	3	5998	3	NOTCH3	19	15300201	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	5045682	15300201	43828782	189	8548											
PIK3R2	5296	genome.wustl.edu	37	chr19	18273933	18273933	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctggacacacggctcctCtaccctgtgtccaaatacca	11	8	7	15	1	1	0	0	0	1	0	3	1	3	1	4	2	3	2	4	2	4	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:18273933C>G	ENST00000593731.1	+	10	1826	c.1266C>G	c.(1264-1266)ctC>ctG	p.L422L	PIK3R2_ENST00000222254.8_Silent_p.L422L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	422	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CACGGCTCCTCTACCCTGTGT	0.607																																																	0													92	75	80					19																	18273933		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.1266C>G	19.37:g.18273933C>G			Q5EAT5|Q9UPH9	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.L422	ENST00000593731.1	37	c.1266	CCDS12371.1	19																																																																																			PIK3R2	-	pfscan_SH2,prints_PI3kinase_P85	ENSG00000105647		0.607	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	-	0	48	0	C	NM_005027		18273933	1	tier1	-	no_errors	ENST00000222254	ensembl	human	known	74_37	silent	39.13	28	18	SNP	0.987	G	G	18273933	C	G	18273933	2	3	35	1	0	0	0	0	0	0	0	1	11958	900	32	5		5	PIK3R2	19	18273933	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	2973732	18273933	40855050	190	8549											
ZNF90	7643	genome.wustl.edu	37	chr19	20228938	20228938	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacccttgctacacataAgaaaattcatactggagaga	16	9	6	10	0	2	2	2	0	0	2	2	4	2	3	1	1	4	1	1	1	6	5			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:20228938A>T	ENST00000418063.2	+	4	687	c.575A>T	c.(574-576)aAg>aTg	p.K192M	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	192					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GCTACACATAAGAAAATTCAT	0.373																																																	0													27	25	26					19																	20228938		692	1591	2283	SO:0001583	missense	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.575A>T	19.37:g.20228938A>T	ENSP00000410466:p.Lys192Met		B9EH87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K192M	ENST00000418063.2	37	c.575	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	A	11.87	1.767131	0.31320	.	.	ENSG00000213988	ENST00000418063	T	0.14640	2.49	1.18	-0.254	0.12992	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08980	0.0222	N	0.01446	-0.86	0.19945	N	0.999944	D	0.89917	1.0	D	0.85130	0.997	T	0.20672	-1.0268	8	.	.	.	.	1.5997	0.02672	0.4599:0.0:0.2426:0.2975	.	192	Q03938	ZNF90_HUMAN	M	192	ENSP00000410466:K192M	.	K	+	2	0	ZNF90	20089938	0.003000	0.15002	0.053000	0.19242	0.052000	0.14988	0.175000	0.16762	0.251000	0.21505	0.248000	0.18094	AAG	ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213988		0.373	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	-	0	67	0	A	NM_007138		20228938	1	tier1	-	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.583	T	T	20228938	A	T	20228938	3	4	35	1	0	0	0	0	1	0	0	0	18247	72	3	5	589	5	ZNF90	19	20228938	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	1955005	20228938	38900045	191	8550											
FFAR3	2865	genome.wustl.edu	37	chr19	35849910	35849910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccctggtggtcttcGtgggcaagctgcagcgccgc	3	9	16	13	3	1	0	0	0	1	0	2	0	1	0	2	4	4	4	2	4	1	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:35849910G>A	ENST00000327809.4	+	2	319	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	FFAR3_ENST00000594310.1_Missense_Mutation_p.V40M	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	40					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGTGGTCTTCGTGGGCAAGCT	0.637																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													156	143	147					19																	35849910		2199	4295	6494	SO:0001583	missense	0			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.118G>A	19.37:g.35849910G>A	ENSP00000328230:p.Val40Met		B2RWM8|Q14CM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.V40M	ENST00000327809.4	37	c.118	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	G	8.616	0.890227	0.17613	.	.	ENSG00000185897	ENST00000327809	T	0.38401	1.14	4.99	1.7	0.24286	GPCR, rhodopsin-like superfamily (1);	0.436148	0.23282	U	0.049897	T	0.26448	0.0646	L	0.55481	1.735	0.27046	N	0.963887	B	0.32573	0.376	B	0.27500	0.08	T	0.17379	-1.0371	10	0.54805	T	0.06	-10.9315	4.5439	0.12071	0.2624:0.1616:0.576:0.0	.	40	O14843	FFAR3_HUMAN	M	40	ENSP00000328230:V40M	ENSP00000328230:V40M	V	+	1	0	FFAR3	40541750	0.018000	0.18449	0.995000	0.50966	0.288000	0.27193	-0.011000	0.12721	0.296000	0.22592	-0.463000	0.05309	GTG	FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000185897		0.637	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	-	0	83	0	G	NM_005304		35849910	1	tier1	-	no_errors	ENST00000327809	ensembl	human	known	74_37	missense	16.67	105	21	SNP	0.964	A	A	35849910	G	A	35849910	3	1	35	1	0	0	0	0	1	0	0	0	5851	1145	40	1	120	1	FFAR3	19	35849910	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	15620972	35849910	23279073	192	8551											
MLL4	9757	genome.wustl.edu	37	chr19	36211861	36211861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagtgcccgctcctccCgtgtcatcaagacaccccgg	6	8	11	16	3	2	2	2	1	0	1	4	2	4	2	5	2	1	1	5	2	1	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:36211861C>T	ENST00000222270.7	+	3	1612	c.1612C>T	c.(1612-1614)Cgt>Tgt	p.R538C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R538C|KMT2B_ENST00000341701.1_Intron	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	538	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCGCTCCTCCCGTGTCATCAA	0.592																																																	0													29	33	32					19																	36211861		1943	4143	6086	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1612C>T	19.37:g.36211861C>T	ENSP00000222270:p.Arg538Cys		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R538C	ENST00000222270.7	37	c.1612	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082045	0.55861	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.89746	-2.56;-2.56	4.62	4.62	0.57501	.	0.000000	0.41001	D	0.000977	D	0.89448	0.6718	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91702	0.5374	10	0.87932	D	0	.	16.3929	0.83545	0.0:1.0:0.0:0.0	.	538	Q9UMN6	MLL4_HUMAN	C	538	ENSP00000222270:R538C;ENSP00000398837:R538C	ENSP00000222270:R538C	R	+	1	0	AD000671.1	40903701	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.897000	0.75671	2.400000	0.81607	0.555000	0.69702	CGT	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.592	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	41	0	C	NM_014727		36211861	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	T	T	36211861	C	T	36211861	3	4	35	1	0	0	0	0	1	0	0	0	9661	652	23	1	1622	1	MLL4	19	36211861	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	361951	36211861	22917122	193	8552											
FCGBP	8857	genome.wustl.edu	37	chr19	40368702	40368702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtccatgttaccgcagaGcccgcacactgcgccatgat	8	7	11	15	4	0	2	0	1	0	1	1	2	1	2	4	1	3	3	4	1	1	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:40368702G>A	ENST00000221347.6	-	28	12653	c.12646C>T	c.(12646-12648)Ctc>Ttc	p.L4216F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4216	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTACCGCAGAGCCCGCACACT	0.617																																																	0													223	225	224					19																	40368702		2203	4300	6503	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12646C>T	19.37:g.40368702G>A	ENSP00000221347:p.Leu4216Phe		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.L4216F	ENST00000221347.6	37	c.12646	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055164	0.55325	.	.	ENSG00000090920	ENST00000221347	T	0.76186	-1.0	3.92	3.92	0.45320	von Willebrand factor, type D domain (3);	.	.	.	.	D	0.90082	0.6902	H	0.95950	3.745	0.33097	D	0.538701	D	0.89917	1.0	D	0.80764	0.994	D	0.94127	0.7385	9	0.66056	D	0.02	.	15.2045	0.73169	0.0:0.0:1.0:0.0	.	4216	Q9Y6R7	FCGBP_HUMAN	F	4216	ENSP00000221347:L4216F	ENSP00000221347:L4216F	L	-	1	0	FCGBP	45060542	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	5.436000	0.66538	2.201000	0.70794	0.305000	0.20034	CTC	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	163	0	G	NM_003890		40368702	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	11.59	205	27	SNP	1.000	A	A	40368702	G	A	40368702	3	1	35	1	0	0	0	0	1	0	0	0	5800	971	34	3	3607	3	FCGBP	19	40368702	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	4156841	40368702	18760281	194	8553											
CYP2B6	1555	genome.wustl.edu	37	chr19	41510046	41510046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggaaaaatcgccatggtCgacccattcttccggggata	10	8	12	11	4	1	0	0	0	1	0	4	3	2	2	3	5	0	0	3	5	3	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:41510046C>T	ENST00000324071.4	+	2	319	c.312C>T	c.(310-312)gtC>gtT	p.V104V	CYP2B6_ENST00000593831.1_Silent_p.V28V|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000330446.5_Silent_p.V64V	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	104					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	TCGCCATGGTCGACCCATTCT	0.617																																																	0													68	70	69					19																	41510046		2203	4300	6503	SO:0001819	synonymous_variant	0			AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"Cytochrome P450s"	2615	protein-coding gene	gene with protein product		123930	"cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6", "cytochrome P450, family 2, subfamily B", "cytochrome P450, subfamily IIB (phenobarbital-inducible)"	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.312C>T	19.37:g.41510046C>T			B4DWP3|Q2V565|Q9UK46	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like	p.V104	ENST00000324071.4	37	c.312	CCDS12570.1	19																																																																																			CYP2B6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000197408		0.617	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2B6	HGNC	protein_coding	OTTHUMT00000463260.1	-	0	69	0	C	NM_000767		41510046	1	tier1	-	no_errors	ENST00000324071	ensembl	human	known	74_37	silent	45.83	52	44	SNP	0.000	T	T	41510046	C	T	41510046	2	4	35	1	0	0	0	0	0	0	0	1	4173	871	31	1		1	CYP2B6	19	41510046	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	1141344	41510046	17618937	195	8554											
RSPH6A	81492	genome.wustl.edu	37	chr19	46299318	46299318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggccgggttgaagctctCggggctgtacttgtgacccc	5	9	15	12	2	1	2	0	2	1	0	2	2	1	2	3	4	2	4	3	4	2	3	rs145529811		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:46299318C>T	ENST00000221538.3	-	6	2105	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	RSPH6A_ENST00000597055.1_Silent_p.P653P|RSPH6A_ENST00000600188.1_Missense_Mutation_p.E391K	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	655	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TTGAAGCTCTCGGGGCTGTAC	0.557																																																	0								C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	89	98	95		1963	4.2	0.2	19	dbSNP_134	95	0,8600		0,0,4300	no	missense	RSPH6A	NM_030785.3	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	655/718	46299318	2,13004	2203	4300	6503	SO:0001583	missense	0			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1963G>A	19.37:g.46299318C>T	ENSP00000221538:p.Glu655Lys		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.E655K	ENST00000221538.3	37	c.1963	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	c	16.22	3.062308	0.55432	4.54E-4	0.0	ENSG00000104941	ENST00000221538	T	0.18016	2.24	4.25	4.25	0.50352	.	0.175637	0.47852	D	0.000206	T	0.20047	0.0482	M	0.71036	2.16	0.32614	N	0.52426	P	0.52061	0.95	B	0.42798	0.398	T	0.21449	-1.0245	10	0.09590	T	0.72	-13.0483	14.6161	0.68549	0.0:1.0:0.0:0.0	.	655	Q9H0K4	RSH6A_HUMAN	K	655	ENSP00000221538:E655K	ENSP00000221538:E655K	E	-	1	0	RSPH6A	50991158	0.989000	0.36119	0.241000	0.24154	0.806000	0.45545	4.300000	0.59079	2.382000	0.81193	0.551000	0.68910	GAG	RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.557	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	-	0	68	0	C			46299318	-1	tier1	rs145529811	no_errors	ENST00000221538	ensembl	human	known	74_37	missense	45.45	71	60	SNP	0.920	T	T	46299318	C	T	46299318	3	4	35	1	0	0	0	0	1	0	0	0	13752	893	31	1	194	1	RSPH6A	19	46299318	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	4789272	46299318	12829665	196	8555											
RASIP1	54922	genome.wustl.edu	37	chr19	49228078	49228078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcactggctggtcagcTccaaggctgcctggaacacg	7	7	13	14	2	1	0	1	0	0	0	3	1	2	1	2	4	3	5	2	4	2	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:49228078T>C	ENST00000222145.4	-	9	2471	c.2267A>G	c.(2266-2268)gAg>gGg	p.E756G		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	756	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCTGGTCAGCTCCAAGGCTGC	0.607																																																	0													86	88	87					19																	49228078		2203	4300	6503	SO:0001583	missense	0			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2267A>G	19.37:g.49228078T>C	ENSP00000222145:p.Glu756Gly		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.E756G	ENST00000222145.4	37	c.2267	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383354	0.82792	.	.	ENSG00000105538	ENST00000222145	T	0.24908	1.83	5.13	5.13	0.70059	Dilute (1);	0.276068	0.35179	N	0.003394	T	0.21468	0.0517	L	0.38175	1.15	0.35648	D	0.811579	P	0.37864	0.61	B	0.34824	0.19	T	0.32402	-0.9908	10	0.72032	D	0.01	-5.8023	13.2479	0.60033	0.0:0.0:0.0:1.0	.	756	Q5U651	RAIN_HUMAN	G	756	ENSP00000222145:E756G	ENSP00000222145:E756G	E	-	2	0	RASIP1	53919890	1.000000	0.71417	0.997000	0.53966	0.970000	0.65996	4.452000	0.60054	2.088000	0.63022	0.529000	0.55759	GAG	RASIP1	-	pfscan_Dilute	ENSG00000105538		0.607	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	-	0	45	0	T	NM_017805		49228078	-1	tier1	-	no_errors	ENST00000222145	ensembl	human	known	74_37	missense	35.06	49	27	SNP	0.999	C	C	49228078	T	C	49228078	3	2	35	1	0	0	0	0	1	0	0	0	13123	1551	54	4	640	4	RASIP1	19	49228078	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	2928760	49228078	9900905	197	8556											
SNRNP70	6625	genome.wustl.edu	37	chr19	49604727	49604727	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacgagcgagacatgcaCtgtgagtacctcccgccgag	11	5	12	13	4	0	2	0	1	0	1	1	6	1	2	3	0	4	2	3	0	2	1	rs373191644		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:49604727C>T	ENST00000598441.1	+	7	698	c.474C>T	c.(472-474)caC>caT	p.H158H	SNRNP70_ENST00000221448.5_Splice_Site_p.H158H			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	158	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GAGACATGCACTGTGAGTACC	0.617																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	115	80	92		474	0.4	1	19		92	0,8600		0,0,4300	no	coding-synonymous-near-splice	SNRNP70	NM_003089.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		158/438	49604727	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.475+1C>T	19.37:g.49604727C>T			B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Silent	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H158	ENST00000598441.1	37	c.474	CCDS12756.1	19																																																																																			SNRNP70	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000104852		0.617	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1	-	0	129	0	C	NM_003089	Silent	49604727	1	tier1	-	no_errors	ENST00000598441	ensembl	human	known	74_37	silent	41.72	95	68	SNP	1.000	T	T	49604727	C	T	49604727	5	4	35	1	0	0	0	0	0	0	1	0	14903	579	20	3	496	3	SNRNP70	19	49604727	Splice_Site	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	376649	49604727	9524256	198	8557											
ZNF766	90321	genome.wustl.edu	37	chr19	52794070	52794070	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtgggcattcaagcctCaccacccatctgttaatcca	10	12	6	13	0	3	0	2	0	1	0	4	0	4	0	4	1	1	2	4	1	3	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:52794070C>A	ENST00000439461.1	+	4	1069	c.1026C>A	c.(1024-1026)ctC>ctA	p.L342L	ZNF766_ENST00000593612.1_Silent_p.L357L|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.L357L|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		ATTCAAGCCTCACCACCCATC	0.393																																																	0													32	34	34					19																	52794070		2131	4274	6405	SO:0001819	synonymous_variant	0			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1026C>A	19.37:g.52794070C>A			B2RNE0|Q7Z326	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L357	ENST00000439461.1	37	c.1071	CCDS46163.1	19																																																																																			ZNF766	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196214		0.393	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF766	HGNC	protein_coding	OTTHUMT00000462764.1	-	0	49	0	C	NM_001010851		52794070	1	tier1	-	no_errors	ENST00000359102	ensembl	human	known	74_37	silent	7.94	58	5	SNP	0.000	A	A	52794070	C	A	52794070	2	1	35	1	0	0	0	0	0	0	0	1	18188	813	29	3		3	ZNF766	19	52794070	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	3189343	52794070	6334913	199	8558											
ZNF528	84436	genome.wustl.edu	37	chr19	52919235	52919235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcagttaattcacactgGaaggaaaccttacaaatgta	16	10	6	9	0	2	0	2	0	0	0	2	2	2	2	2	2	2	2	2	2	6	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:52919235G>T	ENST00000360465.3	+	7	1556	c.1130G>T	c.(1129-1131)gGa>gTa	p.G377V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCACACTGGAAGGAAACCT	0.418																																																	0													85	83	83					19																	52919235		2203	4300	6503	SO:0001583	missense	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1130G>T	19.37:g.52919235G>T	ENSP00000353652:p.Gly377Val		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G377V	ENST00000360465.3	37	c.1130	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668381	0.47677	.	.	ENSG00000167555	ENST00000360465	T	0.23552	1.9	2.08	0.987	0.19790	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48840	0.1522	M	0.85710	2.77	0.47276	D	0.999377	D	0.89917	1.0	D	0.81914	0.995	T	0.46816	-0.9164	9	0.87932	D	0	.	7.5351	0.27706	0.146:0.0:0.854:0.0	.	377	Q3MIS6	ZN528_HUMAN	V	377	ENSP00000353652:G377V	ENSP00000353652:G377V	G	+	2	0	ZNF528	57611047	1.000000	0.71417	0.007000	0.13788	0.018000	0.09664	5.672000	0.68102	0.193000	0.20303	0.655000	0.94253	GGA	ZNF528	-	pfscan_Znf_C2H2	ENSG00000167555		0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1		0	41	0	G	NM_032423		52919235	1			no_errors	ENST00000360465	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	52919235	G	T	52919235	3	4	35	1	0	0	0	0	1	0	0	0	18017	1174	41	3	1144	3	ZNF528	19	52919235	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	125165	52919235	6209748	200	8559											
ZNF83	55769	genome.wustl.edu	37	chr19	53116855	53116855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgaagaccttgccacaCtcattacatttgtaaggttt	11	14	7	9	0	1	3	1	2	0	1	1	3	1	3	2	1	2	2	2	1	3	5	rs7247359		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:53116855C>T	ENST00000597597.1	-	2	3216	c.963G>A	c.(961-963)gaG>gaA	p.E321E	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000545872.1_Silent_p.E321E|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.E321E|ZNF83_ENST00000544146.1_Silent_p.E321E|ZNF83_ENST00000541777.2_Silent_p.E321E|ZNF83_ENST00000391789.4_Silent_p.E293E|ZNF83_ENST00000536937.1_Silent_p.E321E			P51522	ZNF83_HUMAN	zinc finger protein 83	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CCTTGCCACACTCATTACATT	0.408																																																	0													100	105	103					19																	53116855		2203	4300	6503	SO:0001819	synonymous_variant	0			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.963G>A	19.37:g.53116855C>T			A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E321	ENST00000597597.1	37	c.963	CCDS12854.1	19																																																																																			ZNF83	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167766		0.408	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1	-	0	54	0	C	NM_018300		53116855	-1	tier1	rs7247359	no_errors	ENST00000301096	ensembl	human	known	74_37	silent	10.94	57	7	SNP	0.415	T	T	53116855	C	T	53116855	2	4	35	1	0	0	0	0	0	0	0	1	18231	564	20	3		3	ZNF83	19	53116855	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	197620	53116855	6012128	201	8560											
CCDC106	29903	genome.wustl.edu	37	chr19	56162797	56162797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgagaggaggcggcaGaagcagaagggaggtgctag	12	3	20	6	1	0	3	0	1	0	3	0	6	0	5	1	5	2	3	1	5	3	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:56162797G>T	ENST00000586790.1	+	4	1366	c.462G>T	c.(460-462)caG>caT	p.Q154H	CCDC106_ENST00000591578.1_Missense_Mutation_p.Q154H|CCDC106_ENST00000591241.1_Missense_Mutation_p.Q119H|CCDC106_ENST00000308964.3_Missense_Mutation_p.Q154H|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q154H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	154						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGAGGCGGCAGAAGCAGAAGG	0.711																																																	0													30	26	27					19																	56162797		2194	4300	6494	SO:0001583	missense	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.462G>T	19.37:g.56162797G>T	ENSP00000465757:p.Gln154His		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.Q154H	ENST00000586790.1	37	c.462	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111040	0.37242	.	.	ENSG00000173581	ENST00000308964	.	.	.	4.3	3.25	0.37280	.	0.226751	0.37095	N	0.002250	T	0.34250	0.0891	N	0.22421	0.69	0.38702	D	0.953003	P	0.47677	0.899	P	0.44990	0.466	T	0.26744	-1.0094	9	0.66056	D	0.02	-0.879	6.7254	0.23353	0.2889:0.0:0.7111:0.0	.	154	Q9BWC9	CC106_HUMAN	H	154	.	ENSP00000309681:Q154H	Q	+	3	2	CCDC106	60854609	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	2.197000	0.42696	0.931000	0.37242	0.655000	0.94253	CAG	CCDC106	-	NULL	ENSG00000173581		0.711	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	-	0	45	0	G	NM_013301		56162797	1	tier1	-	no_errors	ENST00000308964	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	T	T	56162797	G	T	56162797	3	4	35	1	0	0	0	0	1	0	0	0	2748	933	33	3	476	3	CCDC106	19	56162797	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	3045942	56162797	2966186	202	8561											
NLRP4	147945	genome.wustl.edu	37	chr19	56370074	56370074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctgggcaccaagatacttCtgaagtacggggagcgtgag	10	8	15	8	2	1	3	0	2	1	1	1	4	1	4	1	3	4	3	1	3	4	3			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:56370074C>G	ENST00000301295.6	+	3	1737	c.1315C>G	c.(1315-1317)Ctg>Gtg	p.L439V	NLRP4_ENST00000346986.5_Missense_Mutation_p.L439V|NLRP4_ENST00000587891.1_Missense_Mutation_p.L364V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGATACTTCTGAAGTACGG	0.527																																																	0													128	124	125					19																	56370074		2203	4300	6503	SO:0001583	missense	0			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1315C>G	19.37:g.56370074C>G	ENSP00000301295:p.Leu439Val		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L439V	ENST00000301295.6	37	c.1315	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	C	0.794	-0.757728	0.03019	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83914	-1.78;-1.78	3.47	1.15	0.20763	.	.	.	.	.	T	0.67306	0.2879	N	0.19112	0.55	0.09310	N	1	B;B;B	0.31227	0.203;0.314;0.172	B;B;B	0.29176	0.099;0.046;0.015	T	0.53401	-0.8444	9	0.29301	T	0.29	.	6.6498	0.22955	0.1867:0.4182:0.3951:0.0	.	439;364;439	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	V	439	ENSP00000301295:L439V;ENSP00000344787:L439V	ENSP00000301295:L439V	L	+	1	2	NLRP4	61061886	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.288000	0.18939	0.244000	0.21351	-0.165000	0.13383	CTG	NLRP4	-	NULL	ENSG00000160505		0.527	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	0	51	0	C	NM_134444		56370074	1	tier1	-	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	34.33	44	23	SNP	0.000	G	G	56370074	C	G	56370074	3	3	35	1	0	0	0	0	1	0	0	0	10518	912	32	5	1321	5	NLRP4	19	56370074	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	207277	56370074	2758909	203	8562											
NLRP8	126205	genome.wustl.edu	37	chr19	56467321	56467321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgattatcataaagttGtcttgagaattggcaacaac	16	13	7	5	0	2	2	1	2	1	1	2	3	2	2	0	1	2	2	0	1	8	6			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:56467321G>T	ENST00000291971.3	+	3	1968	c.1897G>T	c.(1897-1899)Gtc>Ttc	p.V633F	NLRP8_ENST00000590542.1_Missense_Mutation_p.V633F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	633					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCATAAAGTTGTCTTGAGAAT	0.463																																																	0													124	116	119					19																	56467321		2203	4300	6503	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1897G>T	19.37:g.56467321G>T	ENSP00000291971:p.Val633Phe		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V633F	ENST00000291971.3	37	c.1897	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413205	0.25465	.	.	ENSG00000179709	ENST00000291971	D	0.87571	-2.27	2.03	-3.94	0.04130	.	.	.	.	.	T	0.81631	0.4863	L	0.46157	1.445	0.09310	N	1	P;B	0.42785	0.79;0.08	P;B	0.44990	0.466;0.029	T	0.72481	-0.4280	9	0.54805	T	0.06	.	4.7461	0.13038	0.2735:0.2128:0.5137:0.0	.	633;633	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	633	ENSP00000291971:V633F	ENSP00000291971:V633F	V	+	1	0	NLRP8	61159133	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.168000	0.00574	-1.137000	0.02888	-0.507000	0.04495	GTC	NLRP8	-	NULL	ENSG00000179709		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	-	0	97	0	G	NM_176811		56467321	1	tier1	-	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	8.89	82	8	SNP	0.000	T	T	56467321	G	T	56467321	3	4	35	1	0	0	0	0	1	0	0	0	10522	1377	48	3	1907	3	NLRP8	19	56467321	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	97247	56467321	2661662	204	8563											
AURKC	6795	genome.wustl.edu	37	chr19	57744878	57744878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgccatgacaagaaagtGattcacagagatattaagcc	16	9	8	8	0	1	4	1	2	0	2	1	5	1	4	2	0	3	0	2	0	5	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:57744878G>A	ENST00000302804.7	+	5	672	c.486G>A	c.(484-486)gtG>gtA	p.V162V	AURKC_ENST00000599062.1_Silent_p.V159V|AURKC_ENST00000598785.1_Silent_p.V128V|AURKC_ENST00000415300.2_Silent_p.V143V|AURKC_ENST00000448930.1_Silent_p.V128V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		ACAAGAAAGTGATTCACAGAG	0.507																																																	0													119	112	114					19																	57744878		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.486G>A	19.37:g.57744878G>A			O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V162	ENST00000302804.7	37	c.486	CCDS33128.1	19																																																																																			AURKC	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105146		0.507	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	HGNC	protein_coding	OTTHUMT00000465089.1	-	0	53	0	G	NM_003160		57744878	1	tier1	-	no_errors	ENST00000302804	ensembl	human	known	74_37	silent	36.36	35	20	SNP	1.000	A	A	57744878	G	A	57744878	2	1	35	1	0	0	0	0	0	0	0	1	1225	1277	45	3		3	AURKC	19	57744878	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	1277557	57744878	1384105	205	8564											
ZNF416	55659	genome.wustl.edu	37	chr19	58084334	58084334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactctgtgatgtttaatgAgggtggctctttggctaaat	9	15	12	5	0	2	2	0	2	2	0	2	3	2	2	0	3	1	3	0	3	4	4			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr19:58084334A>G	ENST00000196489.3	-	4	1160	c.938T>C	c.(937-939)cTc>cCc	p.L313P		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATGTTTAATGAGGGTGGCTCT	0.443																																																	0													87	86	86					19																	58084334		2203	4300	6503	SO:0001583	missense	0			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.938T>C	19.37:g.58084334A>G	ENSP00000196489:p.Leu313Pro		Q9NWW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L313P	ENST00000196489.3	37	c.938	CCDS12954.1	19	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565873	0.86439	.	.	ENSG00000083817	ENST00000196489	T	0.53857	0.6	3.74	3.74	0.42951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78201	0.4246	H	0.94658	3.565	0.35935	D	0.832792	D	0.89917	1.0	D	0.91635	0.999	D	0.86923	0.2068	9	0.87932	D	0	.	11.8584	0.52451	1.0:0.0:0.0:0.0	.	313	Q9BWM5	ZN416_HUMAN	P	313	ENSP00000196489:L313P	ENSP00000196489:L313P	L	-	2	0	ZNF416	62776146	0.507000	0.26146	0.006000	0.13384	0.952000	0.60782	5.012000	0.64017	1.701000	0.51217	0.482000	0.46254	CTC	ZNF416	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083817		0.443	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF416	HGNC	protein_coding	OTTHUMT00000466787.1		0	71	0	A	NM_017879		58084334	-1			no_errors	ENST00000196489	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.105	G	G	58084334	A	G	58084334	3	3	35	1	0	0	0	0	1	0	0	0	17941	304	11	4	850	4	ZNF416	19	58084334	Missense_Mutation	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	339456	58084334	1044649	206	8565											
GDF5	8200	genome.wustl.edu	37	chr20	34021955	34021955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctcgtactcaaggggtgCgatgatccagtcgtcccagc	8	8	12	13	3	1	1	1	1	0	0	5	2	3	1	3	2	4	1	3	2	2	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr20:34021955C>T	ENST00000374372.1	-	4	1761	c.1258G>A	c.(1258-1260)Gca>Aca	p.A420T	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Missense_Mutation_p.A420T			P43026	GDF5_HUMAN	growth differentiation factor 5	420					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCAAGGGGTGCGATGATCCAG	0.592																																																	0													128	112	117					20																	34021955		2203	4300	6503	SO:0001583	missense	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1258G>A	20.37:g.34021955C>T	ENSP00000363492:p.Ala420Thr		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.A420T	ENST00000374372.1	37	c.1258	CCDS13254.1	20	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766655	0.90020	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	D;D	0.84730	-1.89;-1.89	4.4	4.4	0.53042	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95076	0.8405	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.96980	0.9714	10	0.87932	D	0	.	17.1668	0.86818	0.0:1.0:0.0:0.0	.	420;420	F1T0J1;P43026	.;GDF5_HUMAN	T	420	ENSP00000363489:A420T;ENSP00000363492:A420T	ENSP00000363489:A420T	A	-	1	0	GDF5	33485369	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.651000	0.83577	2.266000	0.75297	0.462000	0.41574	GCA	GDF5	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000125965		0.592	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2		0	33	0	C			34021955	-1			no_errors	ENST00000374369	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	34021955	C	T	34021955	3	4	35	1	0	0	0	0	1	0	0	0	6342	768	27	1	251	1	GDF5	20	34021955	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		34021955	29003565	207	8566											
ZBP1	81030	genome.wustl.edu	37	chr20	56179817	56179817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctggattgtgtgtctgcggGacgacgacctagggaagaga	9	9	16	7	3	2	1	0	0	2	1	2	7	2	4	1	3	1	0	1	3	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr20:56179817G>A	ENST00000371173.3	-	8	1279	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	ZBP1_ENST00000340462.4_Missense_Mutation_p.P345S|ZBP1_ENST00000395822.3_Missense_Mutation_p.P293S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	368					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTGTCTGCGGGACGACGACCT	0.562																																																	0													148	115	126					20																	56179817		2203	4300	6503	SO:0001583	missense	0			AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"DNA-dependent activator of IRFs"	606750	"chromosome 20 open reading frame 183"	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.1102C>T	20.37:g.56179817G>A	ENSP00000360215:p.Pro368Ser		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase	p.P368S	ENST00000371173.3	37	c.1102	CCDS13461.1	20	.	.	.	.	.	.	.	.	.	.	G	0.020	-1.445177	0.01089	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677	T;T;T	0.10192	3.27;2.9;3.27	2.5	-2.06	0.07298	.	.	.	.	.	T	0.03739	0.0106	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.17465	0.011;0.022;0.022	B;B;B	0.11329	0.003;0.006;0.006	T	0.47032	-0.9148	9	0.10902	T	0.67	.	6.5282	0.22312	0.4499:0.0:0.5501:0.0	.	368;293;368	A2RRL9;A2A2F7;Q9H171	.;.;ZBP1_HUMAN	S	368;293;345;368	ENSP00000360215:P368S;ENSP00000379167:P293S;ENSP00000344954:P345S	ENSP00000344954:P345S	P	-	1	0	ZBP1	55613223	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.277000	0.02812	-0.479000	0.06813	0.514000	0.50259	CCC	ZBP1	-	NULL	ENSG00000124256		0.562	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBP1	HGNC	protein_coding	OTTHUMT00000079849.1	-	0	56	0	G	NM_030776		56179817	-1	tier1	-	no_errors	ENST00000371173	ensembl	human	known	74_37	missense	49.59	62	61	SNP	0.000	A	A	56179817	G	A	56179817	3	1	35	1	0	0	0	0	1	0	0	0	17569	1174	41	3	191	3	ZBP1	20	56179817	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	22157862	56179817	6845703	208	8567											
HLCS	3141	genome.wustl.edu	37	chr21	38137447	38137447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaagagcacatcccacagGgctcagccacacattccctc	13	5	7	16	0	1	2	1	0	0	2	4	2	3	2	3	1	2	2	3	1	1	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr21:38137447G>T	ENST00000399120.1	-	9	2776	c.1546C>A	c.(1546-1548)Cct>Act	p.P516T	HLCS_ENST00000336648.4_Missense_Mutation_p.P516T	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	516	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CATCCCACAGGGCTCAGCCAC	0.577																																																	0													156	121	133					21																	38137447		2203	4300	6503	SO:0001583	missense	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1546C>A	21.37:g.38137447G>T	ENSP00000382071:p.Pro516Thr		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.P516T	ENST00000399120.1	37	c.1546	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397189	0.83120	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.95724	-3.79;-3.79	5.82	5.82	0.92795	Biotin/lipoate A/B protein ligase (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98342	1.0539	10	0.72032	D	0.01	.	19.7036	0.96065	0.0:0.0:1.0:0.0	.	516	P50747	BPL1_HUMAN	T	516	ENSP00000382071:P516T;ENSP00000338387:P516T	ENSP00000338387:P516T	P	-	1	0	HLCS	37059317	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	8.598000	0.90852	2.747000	0.94245	0.655000	0.94253	CCT	HLCS	-	pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase	ENSG00000159267		0.577	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	-	0	61	0	G			38137447	-1	tier1	-	no_errors	ENST00000336648	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	38137447	G	T	38137447	3	4	35	1	0	0	0	0	1	0	0	0	7240	1232	43	3	650	3	HLCS	21	38137447	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		38137447	9992448	209	8568											
SIK1	150094	genome.wustl.edu	37	chr21	44840162	44840162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtctgcatgatacccagCgcctgctcatcgtagtcgcc	7	9	11	14	3	2	1	1	1	1	0	4	1	2	1	3	1	4	3	3	1	2	2	rs199738681	byFrequency	TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr21:44840162C>T	ENST00000270162.6	-	8	1056	c.924G>A	c.(922-924)gcG>gcA	p.A308A		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	308	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TGATACCCAGCGCCTGCTCAT	0.687													C|||	3	0.000599042	0	0	5008	,	,		16399	0.003		0	False		,,,				2504	0																0													49	47	47					21																	44840162		2203	4300	6503	SO:0001819	synonymous_variant	0			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.924G>A	21.37:g.44840162C>T			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A308	ENST00000270162.6	37	c.924	CCDS33575.1	21																																																																																			SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000142178		0.687	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1		0	36	0	C	NM_173354		44840162	-1			no_errors	ENST00000270162	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.970	T	T	44840162	C	T	44840162	2	4	35	1	0	0	0	0	0	0	0	1	14362	755	27	1		1	SIK1	21	44840162	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	6702715	44840162	3289733	210	8569											
TRPM2	7226	genome.wustl.edu	37	chr21	45820225	45820225	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcatgctggccttcccGctgctcctcaccggcctcat	3	11	9	18	2	2	0	2	0	0	0	4	0	4	0	5	2	3	4	5	2	0	1	rs148173972		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr21:45820225G>T	ENST00000397928.1	+	15	2737	c.2292G>T	c.(2290-2292)ccG>ccT	p.P764P	TRPM2_ENST00000300481.9_Silent_p.P744P|TRPM2_ENST00000397932.2_Silent_p.P764P|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.P764P	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	764					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGCCTTCCCGCTGCTCCTCA	0.697																																																	0													95	68	77					21																	45820225		2202	4300	6502	SO:0001819	synonymous_variant	0			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"Voltage-gated ion channels / Transient receptor potential cation channels", "Nudix motif containing"	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2292G>T	21.37:g.45820225G>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.P764	ENST00000397928.1	37	c.2292	CCDS13710.1	21																																																																																			TRPM2	-	NULL	ENSG00000142185		0.697	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1		0	22	0	G	NM_003307		45820225	1			no_errors	ENST00000300482	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.699	T	T	45820225	G	T	45820225	2	4	35	1	0	0	0	0	0	0	0	1	16634	1074	38	2		2	TRPM2	21	45820225	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	980063	45820225	2309670	211	8570											
COL18A1	80781	genome.wustl.edu	37	chr21	46897715	46897715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccgggcccacctggcCgggcaggccccccaggatcc	4	5	14	18	2	0	0	0	0	0	0	2	1	2	1	8	5	0	2	8	5	0	1	rs369114408		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr21:46897715C>T	ENST00000359759.4	+	7	2323	c.2302C>T	c.(2302-2304)Cgg>Tgg	p.R768W	COL18A1_ENST00000400337.2_Missense_Mutation_p.R353W|COL18A1_ENST00000355480.5_Missense_Mutation_p.R533W			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	768	Triple-helical region 1 (COL1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCACCTGGCCGGGCAGGCCC	0.697													C|||	1	0.000199681	8e-04	0	5008	,	,		15205	0		0	False		,,,				2504	0																0								C	TRP/ARG,TRP/ARG	4,3526		0,4,1761	8	10	9		1597,1057	1.8	0.3	21		9	0,7850		0,0,3925	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	101,101	0,4,5686	TT,TC,CC		0.0,0.1133,0.0351	probably-damaging,probably-damaging	533/1520,353/1340	46897715	4,11376	1765	3925	5690	SO:0001583	missense	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2302C>T	21.37:g.46897715C>T	ENSP00000352798:p.Arg768Trp		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.R768W	ENST00000359759.4	37	c.2302		21	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101613	0.37048	0.001133	0.0	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	T;T;T	0.61742	0.08;0.08;0.08	2.84	1.84	0.25277	.	1.967240	0.02808	N	0.123966	T	0.66446	0.2790	M	0.74881	2.28	0.22142	N	0.999336	D;D;D	0.57899	0.967;0.981;0.981	B;P;P	0.49853	0.42;0.624;0.624	T	0.45308	-0.9270	10	0.37606	T	0.19	.	7.8654	0.29535	0.0:0.8525:0.0:0.1475	.	768;533;353	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	W	353;353;533;768;768	ENSP00000383191:R353W;ENSP00000347665:R533W;ENSP00000352798:R768W	ENSP00000347665:R533W	R	+	1	2	COL18A1	45722143	0.068000	0.21057	0.290000	0.24890	0.008000	0.06430	0.623000	0.24447	0.218000	0.20820	-0.378000	0.06908	CGG	COL18A1	-	NULL	ENSG00000182871		0.697	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	-	0	101	0	C			46897715	1	tier1	-	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	45.83	52	44	SNP	0.969	T	T	46897715	C	T	46897715	3	4	35	1	0	0	0	0	1	0	0	0	3682	643	23	1	2442	1	COL18A1	21	46897715	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	1077490	46897715	1232180	212	8571											
COL6A2	1292	genome.wustl.edu	37	chr21	47545377	47545377	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccctgccacccccccAgactgtgagaagcgctgtgg	8	6	12	15	1	0	3	0	2	0	2	0	5	0	3	5	1	2	1	5	1	1	0	rs111697581		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr21:47545377A>C	ENST00000300527.4	+	25	1920		c.e25-1		COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000357838.4_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACCCCCCCAGACTGTGAGA	0.622																																																	0													53	51	52					21																	47545377		2203	4300	6503	SO:0001630	splice_region_variant	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1817-1A>C	21.37:g.47545377A>C			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Splice_Site	SNP	-	e24-2	ENST00000300527.4	37	c.1817-2	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	A	15.02	2.709496	0.48517	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.07	4.07	0.47477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0364	0.58875	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A2	46369805	1.000000	0.71417	0.995000	0.50966	0.464000	0.32679	8.761000	0.91691	1.485000	0.48380	0.247000	0.18012	.	COL6A2	-	-	ENSG00000142173		0.622	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1		0	57	0	A		Intron	47545377	1			no_errors	ENST00000300527	ensembl	human	known	74_37	splice_site	5.33	71	4	SNP	1.000	C	C	47545377	A	C	47545377	5	2	35	1	0	0	0	0	0	0	1	0	3707	202	7	4	1909	4	COL6A2	21	47545377	Splice_Site	SNP	A	TCGA-JY-A6FA-01A-11D-A33E-09	647662	47545377	584518	213	8572											
PI4KA	5297	genome.wustl.edu	37	chr22	21161744	21161744	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagatcagcactggggttGgcctgcagggaaggcagaca	11	6	16	8	0	1	2	1	0	0	2	1	4	1	3	1	5	2	4	1	5	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr22:21161744G>T	ENST00000572273.1	-	10	1130	c.900C>A	c.(898-900)gcC>gcA	p.A300A	PI4KA_ENST00000255882.6_Silent_p.A358A			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	300					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.A300A(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CACTGGGGTTGGCCTGCAGGG	0.527																																					GBM(136;1332 1831 3115 23601 50806)												2	Substitution - coding silent(2)	prostate(2)											142	100	114					22																	21161744		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.900C>A	22.37:g.21161744G>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.A358	ENST00000572273.1	37	c.1074		22																																																																																			PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.527	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	46	0	G	NM_058004		21161744	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.999	T	T	21161744	G	T	21161744	2	4	35	1	0	0	0	0	0	0	0	1	11912	1335	47	3		3	PI4KA	22	21161744	Silent	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09		21161744	30142822	214	8573											
BIK	638	genome.wustl.edu	37	chr22	43525244	43525245	+	In_Frame_Ins	INS	-	-	GCT																															tgcgaacaggtgctgctggcINSgctgctgctgctgctggcgc																								rs542081559		TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chr22:43525244_43525245insGCT	ENST00000216115.2	+	5	479_480	c.416_417insGCT	c.(415-420)gcgctg>gcGCTgctg	p.144_145insL		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				Gtgctgctggcgctgctgctgc	0.723																																																	0																																										SO:0001652	inframe_insertion	0			U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.429_431dupGCT	22.37:g.43525251_43525253dupGCT	ENSP00000216115:p.Leu147_Leu148dup		Q16582|Q6FH93	In_Frame_Ins	INS	pfam_Bcl2-int_killer	p.143in_frame_insL	ENST00000216115.2	37	c.416_417	CCDS14044.1	22																																																																																			BIK	-	pfam_Bcl2-int_killer	ENSG00000100290		0.723	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIK	HGNC	protein_coding	OTTHUMT00000319676.1		0	30	0	-	NM_001197		43525245	1	tier1		no_errors	ENST00000216115	ensembl	human	known	74_37	in_frame_ins	26.32	28	10	INS	0.000:0.001	GCT	GCT	43525245	-	GCT	43525244	7	5	35	1	0	1	1	0	0	0	0	0	1433	768	27	0	430	0	BIK	22	43525244	In_Frame_Ins	INS	-	TCGA-JY-A6FA-01A-11D-A33E-09	22363500	43525244	7779322	215	8574											
PLP2	5355	genome.wustl.edu	37	chrX	49028406	49028406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgcctgcaccaacttctCgcgcactcgaaagggaatcc	9	6	10	16	4	1	0	0	0	1	0	4	2	2	1	4	2	2	2	4	2	3	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chrX:49028406C>T	ENST00000376327.5	+	1	134	c.59C>T	c.(58-60)tCg>tTg	p.S20L	PLP2_ENST00000376322.3_Missense_Mutation_p.S20L	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	20	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						ACCAACTTCTCGCGCACTCGA	0.637																																																	0													47	35	39					X																	49028406		2203	4300	6503	SO:0001583	missense	0			L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"A4 differentiation-dependent protein"	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.59C>T	X.37:g.49028406C>T	ENSP00000365505:p.Ser20Leu		A6NDT7|Q32MM8	Missense_Mutation	SNP	pfam_Marvel	p.S20L	ENST00000376327.5	37	c.59	CCDS14319.1	X	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023997	0.08006	.	.	ENSG00000102007	ENST00000376322;ENST00000376327	T;T	0.25749	1.8;1.78	5.08	-2.08	0.07254	Marvel (1);	1.145400	0.06437	N	0.725171	T	0.08891	0.0220	N	0.03268	-0.37	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32903	-0.9889	10	0.07175	T	0.84	-0.007	5.868	0.18786	0.1306:0.2863:0.4986:0.0845	.	20	Q04941	PLP2_HUMAN	L	20	ENSP00000365500:S20L;ENSP00000365505:S20L	ENSP00000365500:S20L	S	+	2	0	PLP2	48915350	0.007000	0.16637	0.004000	0.12327	0.927000	0.56198	-0.549000	0.06041	-0.565000	0.06061	0.506000	0.49869	TCG	PLP2	-	NULL	ENSG00000102007		0.637	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP2	HGNC	protein_coding	OTTHUMT00000056540.1	-	0	73	0	C	NM_002668		49028406	1	tier1	-	no_errors	ENST00000376327	ensembl	human	known	74_37	missense	72.63	26	69	SNP	0.001	T	T	49028406	C	T	49028406	3	4	35	1	0	0	0	0	1	0	0	0	12144	893	31	1	61	1	PLP2	23	49028406	Missense_Mutation	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09		49028406	106242154	216	8575											
AR	367	genome.wustl.edu	37	chrX	66765279	66765279	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggtgaggatggttctccCcaagcccatcgtagaggccc	8	7	13	13	1	1	2	0	1	1	1	3	3	1	3	4	4	1	2	4	4	2	2			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chrX:66765279C>A	ENST00000374690.3	+	1	815	c.291C>A	c.(289-291)ccC>ccA	p.P97P	AR_ENST00000396044.3_Silent_p.P97P|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.P97P	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	95	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	ATGGTTCTCCCCAAGCCCATC	0.637									Androgen Insensitivity Syndrome																																								0													23	17	19					X																	66765279		2193	4294	6487	SO:0001819	synonymous_variant	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.291C>A	X.37:g.66765279C>A			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.P97	ENST00000374690.3	37	c.291	CCDS14387.1	X																																																																																			AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.637	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0	22	0	C	NM_000044		66765279	1			no_errors	ENST00000374690	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.194	A	A	66765279	C	A	66765279	2	1	35	1	0	0	0	0	0	0	0	1	836	610	22	3		3	AR	23	66765279	Silent	SNP	C	TCGA-JY-A6FA-01A-11D-A33E-09	17736873	66765279	88505281	217	8576											
GPRASP1	9737	genome.wustl.edu	37	chrX	101909994	101909994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcaatgacaaaggaagagGccaaaaccaaggcccgagcc	17	1	12	11	1	0	2	0	1	0	1	0	5	0	3	4	3	3	1	4	3	6	0			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chrX:101909994G>A	ENST00000361600.5	+	5	1954	c.1153G>A	c.(1153-1155)Gcc>Acc	p.A385T	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A385T|GPRASP1_ENST00000537097.1_Missense_Mutation_p.A385T|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A385T	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	385					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGAAGAGGCCAAAACCAA	0.527																																																	0													53	63	60					X																	101909994		2203	4300	6503	SO:0001583	missense	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"Armadillo repeat containing"	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1153G>A	X.37:g.101909994G>A	ENSP00000355146:p.Ala385Thr		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.A385T	ENST00000361600.5	37	c.1153	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	4.851	0.158225	0.09236	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	1.96	-1.5	0.08691	.	.	.	.	.	T	0.05135	0.0137	N	0.22421	0.69	0.09310	N	1	B	0.28900	0.227	B	0.35039	0.194	T	0.39542	-0.9609	9	0.02654	T	1	-0.5783	1.6394	0.02749	0.1468:0.1981:0.4519:0.2032	.	385	Q5JY77	GASP1_HUMAN	T	385	ENSP00000393691:A385T;ENSP00000409420:A385T;ENSP00000355146:A385T;ENSP00000445683:A385T	ENSP00000355146:A385T	A	+	1	0	GPRASP1	101796650	0.008000	0.16893	0.000000	0.03702	0.003000	0.03518	0.338000	0.19858	-0.556000	0.06134	-0.393000	0.06486	GCC	GPRASP1	-	NULL	ENSG00000198932		0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2		0	30	0	G	NM_014710		101909994	1			no_errors	ENST00000361600	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.002	A	A	101909994	G	A	101909994	3	1	35	1	0	0	0	0	1	0	0	0	6749	1203	42	3	1155	3	GPRASP1	23	101909994	Missense_Mutation	SNP	G	TCGA-JY-A6FA-01A-11D-A33E-09	35144715	101909994	53360566	218	8577											
BEX1	55859	genome.wustl.edu	37	chrX	102317850	102317850	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataaggcaaaactcatcaTgatggtcatggtgagggggg	12	8	15	6	0	3	2	3	2	0	0	3	2	3	2	0	6	1	2	0	6	3	1			TCGA-JY-A6FA-01A-11D-A33E-09	TCGA-JY-A6FA-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fff8ee7e-c79b-4582-a3cd-8f14880cc386	22c94c5a-44cc-4265-95f6-3b6cef088293	g.chrX:102317850T>G	ENST00000372728.3	-	3	592	c.353A>C	c.(352-354)cAt>cCt	p.H118P		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	118					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AAACTCATCATGATGGTCATG	0.483																																																	0													170	138	149					X																	102317850		2203	4300	6503	SO:0001583	missense	0				CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.353A>C	X.37:g.102317850T>G	ENSP00000361813:p.His118Pro		A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like,pirsf_BEX	p.H118P	ENST00000372728.3	37	c.353	CCDS35354.1	X	.	.	.	.	.	.	.	.	.	.	T	15.58	2.875642	0.51695	.	.	ENSG00000133169	ENST00000372728	T	0.11495	2.77	3.21	3.21	0.36854	.	0.290766	0.24978	N	0.034082	T	0.19765	0.0475	M	0.80847	2.515	0.30372	N	0.782824	P	0.50819	0.939	P	0.49192	0.602	T	0.11792	-1.0573	10	0.87932	D	0	.	7.2111	0.25935	0.0:0.0:0.0:1.0	.	118	Q9HBH7	BEX1_HUMAN	P	118	ENSP00000361813:H118P	ENSP00000361813:H118P	H	-	2	0	BEX1	102204506	0.982000	0.34865	0.820000	0.32676	0.900000	0.52787	0.312000	0.19397	1.512000	0.48834	0.483000	0.47432	CAT	BEX1	-	pfam_TF_A-like/BEX-like,pirsf_BEX	ENSG00000133169		0.483	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEX1	HGNC	protein_coding	OTTHUMT00000058925.1	-	0	41	0	T	NM_018476		102317850	-1	tier1	-	no_errors	ENST00000372728	ensembl	human	known	74_37	missense	46.67	48	42	SNP	0.819	G	G	102317850	T	G	102317850	3	3	35	1	0	0	0	0	1	0	0	0	1412	1464	51	4	28	4	BEX1	23	102317850	Missense_Mutation	SNP	T	TCGA-JY-A6FA-01A-11D-A33E-09	407856	102317850	52952710	219	8578											
TMEM52	339456	genome.wustl.edu	37	chr1	1849569	1849569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaagggcaggggcaaccGcatgcccagtgggtactgca	10	4	14	13	1	0	0	0	0	0	0	0	0	0	0	3	4	4	5	3	4	3	1	rs566773598		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:1849569G>A	ENST00000310991.3	-	5	389	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	TMEM52_ENST00000378602.3_Missense_Mutation_p.R113W	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	128						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGGCAACCGCATGCCCAGT	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		20353	0		0	False		,,,				2504	0																0													62	61	61					1																	1849569		2203	4300	6503	SO:0001583	missense	0			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.382C>T	1.37:g.1849569G>A	ENSP00000311122:p.Arg128Trp		Q4VXS6|Q6UX25	Missense_Mutation	SNP	NULL	p.R128W	ENST00000310991.3	37	c.382	CCDS35.1	1	.	.	.	.	.	.	.	.	.	.	.	13.05	2.120259	0.37436	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.47869	0.83;0.83	3.78	1.7	0.24286	.	1.297420	0.06001	N	0.647738	T	0.52533	0.1740	L	0.49778	1.585	0.24118	N	0.995814	D;P	0.71674	0.998;0.95	P;B	0.53861	0.736;0.406	T	0.39941	-0.9589	10	0.87932	D	0	-0.2501	5.1404	0.14955	0.0:0.2001:0.527:0.2729	.	128;113	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	W	113;128	ENSP00000367865:R113W;ENSP00000311122:R128W	ENSP00000311122:R128W	R	-	1	2	TMEM52	1839429	0.000000	0.05858	0.597000	0.28824	0.136000	0.21042	0.255000	0.18333	0.822000	0.34565	0.511000	0.50034	CGG	TMEM52	-	NULL	ENSG00000178821		0.637	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM52	HGNC	protein_coding	OTTHUMT00000002781.1	-	0	101	0	G	NM_178545		1849569	-1	tier1	-	no_errors	ENST00000310991	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.576	A	A	1849569	G	A	1849569	3	1	36	1	0	0	0	0	1	0	0	0	16225	1086	38	1	251	1	TMEM52	1	1849569	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		1849569	247401052	1	8579											
MMEL1	79258	genome.wustl.edu	37	chr1	2542738	2542738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgctatcacgcagccagGggtggtgcagacctcgctca	8	7	12	14	2	2	1	2	0	0	1	3	1	2	1	3	3	3	4	3	3	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:2542738G>A	ENST00000378412.3	-	4	435	c.274C>T	c.(274-276)Cct>Tct	p.P92S	MMEL1_ENST00000502556.1_Missense_Mutation_p.P92S|MMEL1_ENST00000288709.6_Missense_Mutation_p.P83S			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	92						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACGCAGCCAGGGGTGGTGCAG	0.701																																																	0													20	18	18					1																	2542738		2194	4294	6488	SO:0001583	missense	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.274C>T	1.37:g.2542738G>A	ENSP00000367668:p.Pro92Ser		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.P92S	ENST00000378412.3	37	c.274	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	g	8.869	0.948927	0.18356	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83163	-1.69;-1.69;-1.69	4.07	4.07	0.47477	.	0.389700	0.26792	N	0.022477	T	0.73473	0.3591	L	0.46885	1.475	0.43508	D	0.995766	B	0.29590	0.25	B	0.26202	0.067	T	0.66988	-0.5784	10	0.10111	T	0.7	-7.4798	11.1319	0.48351	0.0:0.0:0.8154:0.1846	.	92	Q495T6	MMEL1_HUMAN	S	92;83;92;92	ENSP00000288709:P83S;ENSP00000367668:P92S;ENSP00000422492:P92S	ENSP00000288709:P83S	P	-	1	0	MMEL1	2532598	1.000000	0.71417	0.975000	0.42487	0.065000	0.16274	2.213000	0.42844	2.267000	0.75376	0.442000	0.29010	CCT	MMEL1	-	NULL	ENSG00000142606		0.701	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	-	0	21	0	G	NM_033467		2542738	-1	tier1	-	no_errors	ENST00000378412	ensembl	human	known	74_37	missense	50.00	10	11	SNP	0.989	A	A	2542738	G	A	2542738	3	1	36	1	0	0	0	0	1	0	0	0	9684	1232	43	3	2149	3	MMEL1	1	2542738	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	693169	2542738	246707883	2	8580											
ERRFI1	54206	genome.wustl.edu	37	chr1	8074194	8074194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcttcagagattggcaaCggtggaagaggcctagaacc	12	6	15	8	1	1	3	1	0	0	3	1	5	1	4	2	5	2	2	2	5	4	3	rs141231690		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:8074194C>T	ENST00000377482.5	-	4	688	c.465G>A	c.(463-465)ccG>ccA	p.P155P	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	155					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGATTGGCAACGGTGGAAGAG	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		18140	0		0	False		,,,				2504	0																0								C		3,4403	6.2+/-15.9	0,3,2200	85	92	89		465	-10.9	0	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ERRFI1	NM_018948.3		0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308		155/463	8074194	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.465G>A	1.37:g.8074194C>T			B2RDX9|Q9NTG9|Q9UD05	Silent	SNP	pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6	p.P155	ENST00000377482.5	37	c.465	CCDS94.1	1																																																																																			ERRFI1	-	NULL	ENSG00000116285		0.502	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERRFI1	HGNC	protein_coding	OTTHUMT00000003617.1	-	0	39	0	C	NM_018948		8074194	-1	tier1	rs141231690	no_errors	ENST00000377482	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.005	T	T	8074194	C	T	8074194	2	4	36	1	0	0	0	0	0	0	0	1	5260	523	19	1		1	ERRFI1	1	8074194	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	5531456	8074194	241176427	3	8581											
HSPG2	3339	genome.wustl.edu	37	chr1	22222693	22222694	+	Frame_Shift_Ins	INS	-	-	TCCT																															agatgctgtcagccagcatgINStcctcatcatcagaaaggta																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:22222693_22222694insTCCT	ENST00000374695.3	-	2	252_253	c.173_174insAGGA	c.(172-174)gacfs	p.D58fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	58				D -> Y (in Ref. 1; AAA52700). {ECO:0000305}.	angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGCCAGCATGTCCTCATCATC	0.579																																																	0																																										SO:0001589	frameshift_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.170_173dupAGGA	1.37:g.22222694_22222697dupTCCT	ENSP00000363827:p.Asp58fs		Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.D58fs	ENST00000374695.3	37	c.174_173	CCDS30625.1	1																																																																																			HSPG2	-	NULL	ENSG00000142798		0.579	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0	43	0	-	NM_005529		22222694	-1	tier1		no_errors	ENST00000374695	ensembl	human	known	74_37	frame_shift_ins	46.43	15	13	INS	0.988:1.000	TCCT	TCCT	22222694	-	TCCT	22222693	7	5	36	1	0	1	1	0	0	0	0	0	7457	1368	48	0	13385	0	HSPG2	1	22222693	Frame_Shift_Ins	INS	-	TCGA-JY-A6FB-01A-11D-A33E-09	14148499	22222693	227027928	4	8582											
DAB1	1600	genome.wustl.edu	37	chr1	57480792	57480792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttctgcctgggcttgtcgGtctgtggacttgacctggtg	2	16	14	9	1	2	1	0	1	2	0	3	2	2	2	2	4	1	1	2	4	0	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:57480792G>T	ENST00000371231.1	-	13	1341	c.1307C>A	c.(1306-1308)aCc>aAc	p.T436N	DAB1_ENST00000420954.2_Missense_Mutation_p.T401N|DAB1_ENST00000371234.4_Missense_Mutation_p.T403N|DAB1_ENST00000414851.2_Missense_Mutation_p.T385N|DAB1_ENST00000371236.2_Missense_Mutation_p.T403N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.T317N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	436					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGCTTGTCGGTCTGTGGACT	0.602																																																	0													77	72	74					1																	57480792		2203	4300	6503	SO:0001583	missense	0			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1307C>A	1.37:g.57480792G>T	ENSP00000360275:p.Thr436Asn		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.T436N	ENST00000371231.1	37	c.1307		1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878362	0.33162	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.46451	0.9;0.9;0.87;0.9;1.88;0.88	5.54	4.59	0.56863	.	0.462648	0.26457	N	0.024263	T	0.25344	0.0616	N	0.08118	0	0.34017	D	0.652212	B;B;B;B;B	0.25105	0.061;0.04;0.118;0.009;0.118	B;B;B;B;B	0.26969	0.046;0.027;0.075;0.01;0.075	T	0.29274	-1.0017	10	0.31617	T	0.26	-25.5943	14.2757	0.66179	0.0:0.1994:0.8006:0.0	.	385;436;403;317;401	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	N	403;403;403;401;385;317;436	ENSP00000360280:T403N;ENSP00000360278:T403N;ENSP00000395296:T401N;ENSP00000387581:T385N;ENSP00000409328:T317N;ENSP00000360275:T436N	ENSP00000360275:T436N	T	-	2	0	DAB1	57253380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.297000	0.43593	1.444000	0.47605	0.650000	0.86243	ACC	DAB1	-	NULL	ENSG00000173406		0.602	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	-	0	80	0	G	NM_021080		57480792	-1	tier1	-	no_errors	ENST00000371231	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	57480792	G	T	57480792	3	4	36	1	0	0	0	0	1	0	0	0	4226	1261	44	3	471	3	DAB1	1	57480792	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	35258099	57480792	191769829	5	8583											
DIRAS3	9077	genome.wustl.edu	37	chr1	68512485	68512485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcgcacaggtggcacCatcattcagggccacctccc	8	7	8	18	1	2	0	2	0	0	0	5	0	4	0	5	3	0	2	5	3	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:68512485C>A	ENST00000370981.1	-	4	1132	c.496G>T	c.(496-498)Ggt>Tgt	p.G166C	DIRAS3_ENST00000395201.1_Missense_Mutation_p.G166C|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	166					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGGTGGCACCATCATTCAGG	0.512																																																	0													116	113	114					1																	68512485		2203	4300	6503	SO:0001583	missense	0			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"ras homolog gene family, member I"	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.496G>T	1.37:g.68512485C>A	ENSP00000360020:p.Gly166Cys		B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G166C	ENST00000370981.1	37	c.496	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060956	0.76074	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.80994	-1.44;-1.44	4.66	3.74	0.42951	Small GTP-binding protein domain (1);	.	.	.	.	D	0.91290	0.7254	H	0.95982	3.75	0.50467	D	0.99987	D	0.89917	1.0	D	0.91635	0.999	D	0.93962	0.7241	9	0.87932	D	0	.	14.6962	0.69124	0.0:0.8535:0.1464:0.0	.	166	O95661	DIRA3_HUMAN	C	166	ENSP00000360020:G166C;ENSP00000378627:G166C	ENSP00000360020:G166C	G	-	1	0	DIRAS3	68285073	1.000000	0.71417	0.005000	0.12908	0.015000	0.08874	3.433000	0.52834	1.073000	0.40885	0.650000	0.86243	GGT	DIRAS3	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000162595		0.512	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2		0	60	0	C	NM_004675		68512485	-1			no_errors	ENST00000370981	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	68512485	C	A	68512485	3	1	36	1	0	0	0	0	1	0	0	0	4546	594	21	3	197	3	DIRAS3	1	68512485	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	11031693	68512485	180738136	6	8584											
GBP1	2633	genome.wustl.edu	37	chr1	89525079	89525079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggaggacggccagggCgaagatccaggagtcattct	10	6	15	10	2	3	1	2	0	1	1	4	5	4	4	2	5	0	1	2	5	1	1	rs147085563		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:89525079C>T	ENST00000370473.4	-	4	568	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	117	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACGGCCAGGGCGAAGATCCAG	0.498																																																	0													191	168	176					1																	89525079		2203	4300	6503	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.349G>A	1.37:g.89525079C>T	ENSP00000359504:p.Ala117Thr		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.A117T	ENST00000370473.4	37	c.349	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904007	0.52333	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.80824	-1.42	4.6	4.6	0.57074	Guanylate-binding protein, N-terminal (1);	0.293264	0.30762	N	0.008921	T	0.69851	0.3157	M	0.67953	2.075	0.27177	N	0.960771	P	0.46142	0.873	B	0.43445	0.42	T	0.67094	-0.5757	10	0.54805	T	0.06	.	10.2678	0.43466	0.1978:0.8022:0.0:0.0	.	117	P32455	GBP1_HUMAN	T	117;80	ENSP00000359504:A117T	ENSP00000359504:A117T	A	-	1	0	GBP1	89297667	0.922000	0.31269	0.997000	0.53966	0.703000	0.40648	0.768000	0.26590	2.119000	0.64992	0.306000	0.20318	GCC	GBP1	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000117228		0.498	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	-	0	149	0	C	NM_002053		89525079	-1	tier1	rs147085563	no_errors	ENST00000370473	ensembl	human	known	74_37	missense	63.44	33	59	SNP	1.000	T	T	89525079	C	T	89525079	3	4	36	1	0	0	0	0	1	0	0	0	6298	768	27	1	1461	1	GBP1	1	89525079	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	21012594	89525079	159725542	7	8585											
COL11A1	1301	genome.wustl.edu	37	chr1	103352363	103352363	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgtattatttacatacCatctgggaagtcaggatggc	11	13	10	7	0	3	0	2	0	1	0	3	2	3	2	1	3	2	1	1	3	5	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:103352363C>A	ENST00000370096.3	-	63	5170	c.4858G>T	c.(4858-4860)Ggt>Tgt	p.G1620C	COL11A1_ENST00000512756.1_Splice_Site_p.G1504C|COL11A1_ENST00000353414.4_Splice_Site_p.G1581C|COL11A1_ENST00000358392.2_Splice_Site_p.G1632C	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1620	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1620C(1)|p.G1632C(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTACATACCATCTGGGAAG	0.418																																																	2	Substitution - Missense(2)	lung(2)											152	151	151					1																	103352363		2203	4300	6503	SO:0001630	splice_region_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4858+1G>T	1.37:g.103352363C>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1632C	ENST00000370096.3	37	c.4894	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889902	0.72524	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	H	0.97682	4.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.82864	-0.0246	9	.	.	.	.	19.4555	0.94886	0.0:1.0:0.0:0.0	.	1504;1581;1632;1620;840	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	C	1620;1632;1581;840;1504	ENSP00000359114:G1620C;ENSP00000351163:G1632C;ENSP00000302551:G1581C;ENSP00000426533:G1504C	.	G	-	1	0	COL11A1	103124951	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.818000	0.86416	2.608000	0.88229	0.313000	0.20887	GGT	COL11A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	ENSG00000060718		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	53	0	C	NM_080630	Missense_Mutation	103352363	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	103352363	C	A	103352363	5	1	36	1	0	0	0	0	0	0	1	0	3674	608	21	3	582	3	COL11A1	1	103352363	Splice_Site	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	13827284	103352363	145898258	8	8586											
AKNAD1	254268	genome.wustl.edu	37	chr1	109363176	109363176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatacttactttcctggtGtgggctcatgttcaccttta	8	17	7	9	0	2	0	2	0	0	0	3	0	3	0	2	2	2	2	2	2	4	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:109363176G>T	ENST00000370001.3	-	14	2508	c.2240C>A	c.(2239-2241)aCa>aAa	p.T747K	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	747						cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CTTTCCTGGTGTGGGCTCATG	0.348																																																	0													130	128	129					1																	109363176		2203	4299	6502	SO:0001583	missense	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 62"	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2240C>A	1.37:g.109363176G>T	ENSP00000359018:p.Thr747Lys		B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.T747K	ENST00000370001.3	37	c.2240	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427970	0.25726	.	.	ENSG00000162641	ENST00000370001	T	0.19105	2.17	5.31	0.742	0.18341	.	0.912970	0.09057	N	0.854874	T	0.04861	0.0131	N	0.24115	0.695	0.09310	N	1	P	0.40476	0.718	B	0.36030	0.216	T	0.31364	-0.9946	10	0.62326	D	0.03	0.0806	7.8366	0.29374	0.3737:0.0:0.6263:0.0	.	747	Q5T1N1	AKND1_HUMAN	K	747	ENSP00000359018:T747K	ENSP00000359018:T747K	T	-	2	0	AKNAD1	109164699	0.000000	0.05858	0.000000	0.03702	0.865000	0.49528	0.187000	0.16998	0.183000	0.20059	0.563000	0.77884	ACA	AKNAD1	-	NULL	ENSG00000162641		0.348	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	-	0	89	0	G	NM_152763		109363176	-1	tier1	-	no_errors	ENST00000370001	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	109363176	G	T	109363176	3	4	36	1	0	0	0	0	1	0	0	0	464	1377	48	3	282	3	AKNAD1	1	109363176	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	6010813	109363176	139887445	9	8587											
SV2A	9900	genome.wustl.edu	37	chr1	149877572	149877572	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaagcaggagacacaGgacatcacgctggagccagc	15	2	14	10	1	1	2	1	0	0	2	1	6	1	5	1	4	3	2	1	4	2	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:149877572G>T	ENST00000369146.3	-	12	2395	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	SV2A_ENST00000369145.1_Silent_p.S635S	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	635					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGAGACACAGGACATCACGC	0.592																																																	0													95	76	83					1																	149877572		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1905C>A	1.37:g.149877572G>T			D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.S635	ENST00000369146.3	37	c.1905	CCDS940.1	1																																																																																			SV2A	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000159164		0.592	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1		0	40	0	G			149877572	-1			no_errors	ENST00000369146	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	T	T	149877572	G	T	149877572	2	4	36	1	0	0	0	0	0	0	0	1	15464	987	35	3		3	SV2A	1	149877572	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	40514396	149877572	99373049	10	8588											
LCE4A	199834	genome.wustl.edu	37	chr1	152681755	152681755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacagacaccataggtcCcactgccacagacccaagag	14	3	7	17	0	0	3	0	0	0	3	1	3	1	3	5	1	1	0	5	1	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:152681755C>A	ENST00000368777.1	+	2	460	c.204C>A	c.(202-204)tcC>tcA	p.S68S	LCE4A_ENST00000335535.3_Silent_p.S68S			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	68	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			ACCATAGGTCCCACTGCCACA	0.622																																																	0													50	57	55					1																	152681755		2203	4300	6503	SO:0001819	synonymous_variant	0			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"Late cornified envelopes"	16613	protein-coding gene	gene with protein product		612618	"small proline rich-like (epidermal differentiation complex) 4A"	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.204C>A	1.37:g.152681755C>A			Q14D97	Silent	SNP	NULL	p.S68	ENST00000368777.1	37	c.204	CCDS1022.1	1																																																																																			LCE4A	-	NULL	ENSG00000187170		0.622	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE4A	HGNC	protein_coding	OTTHUMT00000040048.1	-	0	51	0	C	NM_178356		152681755	1	tier1	-	no_errors	ENST00000335535	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	A	A	152681755	C	A	152681755	2	1	36	1	0	0	0	0	0	0	0	1	8702	610	22	3		3	LCE4A	1	152681755	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2804183	152681755	96568866	11	8589											
HCN3	57657	genome.wustl.edu	37	chr1	155257602	155257602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccatactgcagcggaagcGctccgagccaagtccaggca	10	6	11	14	3	0	0	0	0	0	0	3	2	3	1	4	2	5	3	4	2	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:155257602G>T	ENST00000368358.3	+	8	1681	c.1673G>T	c.(1672-1674)cGc>cTc	p.R558L	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	558					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCGGAAGCGCTCCGAGCCA	0.552																																																	0													53	58	56					1																	155257602		2203	4300	6503	SO:0001583	missense	0			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.1673G>T	1.37:g.155257602G>T	ENSP00000357342:p.Arg558Leu		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R558L	ENST00000368358.3	37	c.1673	CCDS1108.1	1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239629	0.39598	.	.	ENSG00000143630	ENST00000368358	T	0.39592	1.07	4.91	2.98	0.34508	.	0.122998	0.37530	N	0.002051	T	0.10165	0.0249	N	0.14661	0.345	0.39003	D	0.959387	B;B	0.09022	0.0;0.002	B;B	0.15870	0.003;0.014	T	0.07328	-1.0778	10	0.27082	T	0.32	.	8.235	0.31620	0.0884:0.1596:0.752:0.0	.	253;558	B7Z5R8;Q9P1Z3	.;HCN3_HUMAN	L	558	ENSP00000357342:R558L	ENSP00000357342:R558L	R	+	2	0	HCN3	153524226	0.638000	0.27225	1.000000	0.80357	0.929000	0.56500	1.153000	0.31676	0.740000	0.32651	0.557000	0.71058	CGC	HCN3	-	NULL	ENSG00000143630		0.552	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1		0	85	0	G	NM_020897		155257602	1			no_errors	ENST00000368358	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	155257602	G	T	155257602	3	4	36	1	0	0	0	0	1	0	0	0	7025	1087	38	2	1703	2	HCN3	1	155257602	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2575847	155257602	93993019	12	8590											
HAPLN2	60484	genome.wustl.edu	37	chr1	156594237	156594237	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggacggacgcctggcCacctactcccagctctacca	9	5	10	17	2	1	0	0	0	1	0	2	3	2	2	5	3	4	2	5	3	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:156594237C>A	ENST00000255039.1	+	5	941	c.534C>A	c.(532-534)gcC>gcA	p.A178A	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	178	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACGCCTGGCCACCTACTCCC	0.667																																																	0													24	24	24					1																	156594237		2201	4298	6499	SO:0001819	synonymous_variant	0			AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"Immunoglobulin superfamily / V-set domain containing"	17410	protein-coding gene	gene with protein product	"brain link protein 1"					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.534C>A	1.37:g.156594237C>A			Q5T3J0	Silent	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.A178	ENST00000255039.1	37	c.534	CCDS1148.1	1																																																																																			HAPLN2	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000132702		0.667	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN2	HGNC	protein_coding	OTTHUMT00000081039.1	-	0	73	0	C	NM_021817		156594237	1	tier1	-	no_errors	ENST00000255039	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	156594237	C	A	156594237	2	1	36	1	0	0	0	0	0	0	0	1	6982	581	21	3		3	HAPLN2	1	156594237	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1336635	156594237	92656384	13	8591											
OR6Y1	391112	genome.wustl.edu	37	chr1	158517559	158517559	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgtactcagtgcagaCaaaggtcacaaaaaagtaaa	20	6	9	6	0	2	1	2	0	0	1	2	2	2	2	0	2	2	3	0	2	8	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:158517559C>G	ENST00000302617.3	-	1	336	c.337G>C	c.(337-339)Gtc>Ctc	p.V113L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCAGTGCAGACAAAGGTCACA	0.453																																																	0													139	125	130					1																	158517559		2202	4300	6502	SO:0001583	missense	0			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.337G>C	1.37:g.158517559C>G	ENSP00000304807:p.Val113Leu		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V113L	ENST00000302617.3	37	c.337	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400389	0.25291	.	.	ENSG00000197532	ENST00000302617	T	0.01335	5.0	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38005	N	0.001848	T	0.00412	0.0013	L	0.38175	1.15	0.09310	N	1	P	0.41546	0.754	B	0.33750	0.169	T	0.45071	-0.9286	10	0.02654	T	1	.	11.4892	0.50371	0.0:0.9128:0.0:0.0872	.	113	Q8NGX8	OR6Y1_HUMAN	L	113	ENSP00000304807:V113L	ENSP00000304807:V113L	V	-	1	0	OR6Y1	156784183	0.000000	0.05858	0.975000	0.42487	0.903000	0.53119	0.479000	0.22228	2.695000	0.91970	0.563000	0.77884	GTC	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197532		0.453	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	-	0	40	0	C	NM_001005189		158517559	-1	tier1	-	no_errors	ENST00000302617	ensembl	human	known	74_37	missense	65.85	14	27	SNP	0.010	G	G	158517559	C	G	158517559	3	3	36	1	0	0	0	0	1	0	0	0	11252	478	17	5	642	5	OR6Y1	1	158517559	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1923322	158517559	90733062	14	8592											
CD84	8832	genome.wustl.edu	37	chr1	160535365	160535365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgggtcacagtaactaCgggtgctgtttctgagtctc	6	14	12	9	1	4	1	1	1	3	0	5	1	4	1	0	2	3	3	0	2	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:160535365C>T	ENST00000311224.4	-	2	283	c.217G>A	c.(217-219)Gta>Ata	p.V73I	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Missense_Mutation_p.V73I|CD84_ENST00000534968.1_Intron|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Missense_Mutation_p.V73I|CD84_ENST00000368048.3_Missense_Mutation_p.V73I	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	73	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACAGTAACTACGGGTGCTGTT	0.433																																																	0													210	193	199					1																	160535365		2203	4300	6503	SO:0001583	missense	0			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1704	protein-coding gene	gene with protein product		604513	"CD84 antigen (leukocyte antigen)", "CD84 molecule "			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.217G>A	1.37:g.160535365C>T	ENSP00000312367:p.Val73Ile		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.V73I	ENST00000311224.4	37	c.217	CCDS53396.1	1	.	.	.	.	.	.	.	.	.	.	c	4.682	0.126832	0.08931	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.62788	0.4;0.39;0.39;0.13;0.14;-0.0	5.11	-1.6	0.08426	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.836780	0.02323	N	0.073139	T	0.09905	0.0243	N	0.01109	-1.01	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.03818	-1.1001	10	0.18276	T	0.48	2.6225	4.817	0.13372	0.0:0.2703:0.3412:0.3884	.	73;73;73;73;73;73	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	I	73	ENSP00000357033:V73I;ENSP00000357027:V73I;ENSP00000312367:V73I;ENSP00000357030:V73I;ENSP00000353163:V73I;ENSP00000357026:V73I	ENSP00000312367:V73I	V	-	1	0	CD84	158801989	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	-0.148000	0.10219	-0.363000	0.08101	-1.280000	0.01385	GTA	CD84	-	smart_Ig_sub	ENSG00000066294		0.433	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CD84	HGNC	protein_coding	OTTHUMT00000059092.1	-	0	72	0	C	NM_003874		160535365	-1	tier1	-	no_errors	ENST00000311224	ensembl	human	novel	74_37	missense	7.59	73	6	SNP	0.000	T	T	160535365	C	T	160535365	3	4	36	1	0	0	0	0	1	0	0	0	3049	536	19	1	848	1	CD84	1	160535365	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2017806	160535365	88715256	15	8593											
POGK	57645	genome.wustl.edu	37	chr1	166810311	166810311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaagtacgaatctgcTctgagggcggatgggtaagt	11	9	15	6	2	2	2	0	1	2	1	2	4	2	3	0	3	3	4	0	3	4	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:166810311T>C	ENST00000367875.1	+	2	478	c.118T>C	c.(118-120)Tct>Cct	p.S40P	POGK_ENST00000537173.1_5'UTR|POGK_ENST00000536514.1_5'UTR|POGK_ENST00000367876.4_Missense_Mutation_p.S40P			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	40					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ACGAATCTGCTCTGAGGGCGG	0.542																																					GBM(76;192 1530 30153 48742)												0													80	74	76					1																	166810311		2203	4300	6503	SO:0001583	missense	0			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.118T>C	1.37:g.166810311T>C	ENSP00000356849:p.Ser40Pro		Q5TIJ1|Q8TE07	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S40P	ENST00000367875.1	37	c.118	CCDS1254.1	1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.996194	0.54147	.	.	ENSG00000143157	ENST00000449930;ENST00000367876;ENST00000367875	T;T;T	0.01767	4.75;4.65;4.65	5.34	-0.188	0.13264	Krueppel-associated box (1);	0.172384	0.28219	N	0.016141	T	0.00496	0.0016	N	0.19112	0.55	0.31068	N	0.713303	B	0.26445	0.149	B	0.23150	0.044	T	0.49799	-0.8901	9	0.72032	D	0.01	-11.4389	7.0976	0.25319	0.1492:0.0:0.4629:0.3879	.	40	Q9P215	POGK_HUMAN	P	40	ENSP00000404402:S40P;ENSP00000356850:S40P;ENSP00000356849:S40P	ENSP00000356849:S40P	S	+	1	0	POGK	165076935	0.995000	0.38212	0.991000	0.47740	0.953000	0.61014	1.087000	0.30865	0.142000	0.18901	0.528000	0.53228	TCT	POGK	-	superfamily_Krueppel-associated_box	ENSG00000143157		0.542	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	-	0	56	0	T	NM_017542		166810311	1	tier1	-	no_errors	ENST00000367875	ensembl	human	known	74_37	missense	84.00	4	21	SNP	0.974	C	C	166810311	T	C	166810311	3	2	36	1	0	0	0	0	1	0	0	0	12224	1551	54	4	120	4	POGK	1	166810311	Missense_Mutation	SNP	T	TCGA-JY-A6FB-01A-11D-A33E-09	6274946	166810311	82440310	16	8594											
PTPRC	5788	genome.wustl.edu	37	chr1	198711434	198711434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggaagccgagaacaaaGtggatgtttatggttatgtt	11	12	13	5	1	0	1	0	0	0	1	0	4	0	3	2	3	2	3	2	3	5	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:198711434G>T	ENST00000367376.2	+	25	2800	c.2629G>T	c.(2629-2631)Gtg>Ttg	p.V877L	PTPRC_ENST00000594404.1_Missense_Mutation_p.V716L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V829L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V718L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V879L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	877	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGAGAACAAAGTGGATGTTTA	0.443																																																	0													230	217	221					1																	198711434		2203	4300	6503	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2629G>T	1.37:g.198711434G>T	ENSP00000356346:p.Val877Leu		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V879L	ENST00000367376.2	37	c.2635		1	.	.	.	.	.	.	.	.	.	.	G	36	5.691383	0.96793	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D;T	0.85013	-1.93;2.67	6.06	6.06	0.98353	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.45361	D	0.000376	D	0.89853	0.6835	L	0.35854	1.095	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76071	0.987;0.987;0.987	D	0.89827	0.3993	10	0.72032	D	0.01	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	718;829;877	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	L	879;829;877;716	ENSP00000356346:V879L;ENSP00000193532:V829L	ENSP00000306782:V716L	V	+	1	0	PTPRC	196978057	1.000000	0.71417	0.896000	0.35187	0.963000	0.63663	4.749000	0.62155	2.879000	0.98667	0.650000	0.86243	GTG	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.443	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0	94	0	G			198711434	1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	198711434	G	T	198711434	3	4	36	1	0	0	0	0	1	0	0	0	12842	1029	36	3	2734	3	PTPRC	1	198711434	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	31901123	198711434	50539187	17	8595											
IGFN1	91156	genome.wustl.edu	37	chr1	201177487	201177487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatgggaccagggtctCtgagggcaggaagcaaagtg	11	5	17	8	0	1	1	0	1	1	0	2	4	1	3	2	4	2	2	2	4	2	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:201177487C>A	ENST00000335211.4	+	12	3596	c.3466C>A	c.(3466-3468)Ctg>Atg	p.L1156M	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Ig-like 5.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCAGGGTCTCTGAGGGCAGG	0.597																																																	0													8	7	8					1																	201177487		691	1588	2279	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3466C>A	1.37:g.201177487C>A	ENSP00000334714:p.Leu1156Met		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1156M	ENST00000335211.4	37	c.3466	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297457	0.60086	.	.	ENSG00000163395	ENST00000335211	D	0.89343	-2.5	3.97	3.04	0.35103	.	.	.	.	.	T	0.76622	0.4013	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.70215	-0.4933	6	.	.	.	.	6.581	0.22594	0.0:0.8702:0.0:0.1298	.	.	.	.	M	1156	ENSP00000334714:L1156M	.	L	+	1	2	IGFN1	199444110	0.001000	0.12720	0.965000	0.40720	0.174000	0.22865	0.066000	0.14489	2.133000	0.65898	0.561000	0.74099	CTG	IGFN1	-	NULL	ENSG00000163395		0.597	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0	46	0	C	NM_178275		201177487	1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	A	A	201177487	C	A	201177487	3	1	36	1	0	0	0	0	1	0	0	0	7617	912	32	3	3508	3	IGFN1	1	201177487	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2466053	201177487	48073134	18	8596											
PFKFB2	5208	genome.wustl.edu	37	chr1	207252357	207252357	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgtccctcatgttgcCttgctaatgatgtggatgtt	6	14	11	10	2	1	1	1	1	0	0	2	2	2	2	2	1	3	4	2	1	1	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:207252357C>A	ENST00000367080.3	+	0	7094				PFKFB2_ENST00000411990.2_Missense_Mutation_p.P372H|PFKFB2_ENST00000541914.1_Missense_Mutation_p.P263H|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000367079.2_Missense_Mutation_p.P470H	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CTCATGTTGCCTTGCTAATGA	0.532																																																	0													161	149	153					1																	207252357		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033		1.37:g.207252357C>A			O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.P470H	ENST00000367080.3	37	c.1409	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.779230	0.49891	.	.	ENSG00000123836	ENST00000411990;ENST00000367079;ENST00000541914	.	.	.	5.0	-10.0	0.00425	.	.	.	.	.	T	0.31765	0.0807	L	0.47716	1.5	0.09310	N	1	P;P;D	0.60160	0.712;0.768;0.987	B;P;P	0.54759	0.376;0.514;0.76	T	0.38993	-0.9635	8	0.87932	D	0	.	1.4402	0.02353	0.4382:0.2223:0.0892:0.2503	.	263;372;470	B4DI16;B4DY91;Q5VVQ3	.;.;.	H	372;470;263	.	ENSP00000356046:P470H	P	+	2	0	PFKFB2	205318980	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.143000	0.01297	-1.727000	0.01368	-0.302000	0.09304	CCT	PFKFB2	-	NULL	ENSG00000123836		0.532	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	-	0	44	0	C			207252357	1	tier1	-	no_errors	ENST00000367079	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	A	A	207252357	C	A	207252357	1	1	36	0	1	0	0	0	0	0	0	0	11800	681	24	3		3	PFKFB2	1	207252357	IGR	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	6074870	207252357	41998264	19	8597											
CHRM3	1131	genome.wustl.edu	37	chr1	240072323	240072323	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagctgcatacccaaaacCttttggaatctgggctactg	11	10	9	11	0	1	0	0	0	1	0	1	2	1	1	2	2	5	3	2	2	5	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:240072323C>A	ENST00000255380.4	+	5	2351	c.1572C>A	c.(1570-1572)acC>acA	p.T524T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	524	Agonist binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TACCCAAAACCTTTTGGAATC	0.483																																																	0													131	110	117					1																	240072323		2203	4300	6503	SO:0001819	synonymous_variant	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1572C>A	1.37:g.240072323C>A			Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.T524	ENST00000255380.4	37	c.1572	CCDS1616.1	1																																																																																			CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt	ENSG00000133019		0.483	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0	57	0	C	NM_000740		240072323	1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.995	A	A	240072323	C	A	240072323	2	1	36	1	0	0	0	0	0	0	0	1	3385	668	24	3		3	CHRM3	1	240072323	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	32819966	240072323	9178298	20	8598											
PLD5	200150	genome.wustl.edu	37	chr1	242271092	242271092	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcgaactctaacgcttcGtaaaactaatgcttctctta	12	13	6	10	3	2	0	0	0	2	0	5	2	2	0	0	0	4	3	0	0	6	6	rs367992813		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr1:242271092G>A	ENST00000536534.2	-	8	1361	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	PLD5_ENST00000442594.2_Nonsense_Mutation_p.R282*|PLD5_ENST00000427495.1_Nonsense_Mutation_p.R312*			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	374						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTAACGCTTCGTAAAACTAAT	0.358													G|||	1	0.000199681	0	0	5008	,	,		20083	0		0.001	False		,,,				2504	0																0								G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	88	90	89		934,496,1120	4.5	1	1		89	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	PLD5	NM_001195811.1,NM_001195812.1,NM_152666.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	312/475,166/329,374/537	242271092	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1120C>T	1.37:g.242271092G>A	ENSP00000440896:p.Arg374*		A1KXV0|B7Z324|Q494U9|Q8NB22	Nonsense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.R374*	ENST00000536534.2	37	c.1120	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	G	39	7.484326	0.98312	0.0	1.16E-4	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	.	.	.	5.38	4.46	0.54185	.	0.065247	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3979	13.4569	0.61204	0.0:0.0:0.8428:0.1572	.	.	.	.	X	312;282;374	.	ENSP00000401285:R312X	R	-	1	2	PLD5	240337715	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.110000	0.50352	1.234000	0.43709	0.643000	0.83706	CGA	PLD5	-	NULL	ENSG00000180287		0.358	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0	109	0	G	NM_152666		242271092	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	nonsense	78.38	24	87	SNP	1.000	A	A	242271092	G	A	242271092	4	1	36	1	0	0	0	0	0	1	0	0	12088	1153	40	1	502	1	PLD5	1	242271092	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2198769	242271092	6979529	21	8599											
ZNF513	130557	genome.wustl.edu	37	chr2	27603102	27603102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtccttcgtcgagggaGtcttcagtatccactgaaga	8	10	12	11	3	2	2	1	1	1	1	6	4	4	3	3	2	0	1	3	2	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:27603102G>A	ENST00000323703.6	-	2	267	c.69C>T	c.(67-69)gaC>gaT	p.D23D	ZNF513_ENST00000491924.1_5'Flank|ZNF513_ENST00000407879.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	23					regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCGAGGGAGTCTTCAGTAT	0.577																																																	0													58	66	63					2																	27603102		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"Zinc fingers, C2H2-type"	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.69C>T	2.37:g.27603102G>A			A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D23	ENST00000323703.6	37	c.69	CCDS1751.1	2																																																																																			ZNF513	-	NULL	ENSG00000163795		0.577	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF513	HGNC	protein_coding	OTTHUMT00000215026.2	-	0	144	0	G	NM_144631		27603102	-1	tier1	-	no_errors	ENST00000323703	ensembl	human	known	74_37	silent	29.63	76	32	SNP	0.998	A	A	27603102	G	A	27603102	2	1	36	1	0	0	0	0	0	0	0	1	18006	1020	36	3		3	ZNF513	2	27603102	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		27603102	215596271	22	8600											
XDH	7498	genome.wustl.edu	37	chr2	31569643	31569643	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcagacttacccagtcttCccaggagccactgggattct	8	10	9	14	0	3	1	1	0	2	1	4	3	4	3	3	2	2	1	3	2	1	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:31569643C>A	ENST00000379416.3	-	30	3391	c.3343G>T	c.(3343-3345)Gaa>Taa	p.E1115*		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1115					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	ACCCAGTCTTCCCAGGAGCCA	0.512																																					Colon(66;682 1445 30109 40147)												0													153	158	156					2																	31569643		2203	4300	6503	SO:0001587	stop_gained	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3343G>T	2.37:g.31569643C>A	ENSP00000368727:p.Glu1115*		Q16681|Q16712|Q4PJ16	Nonsense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.E1115*	ENST00000379416.3	37	c.3343	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.538066	0.99199	.	.	ENSG00000158125	ENST00000379416	.	.	.	6.03	4.22	0.49857	.	0.133866	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	12.6179	0.56588	0.0:0.8637:0.0:0.1363	.	.	.	.	X	1115	.	ENSP00000368727:E1115X	E	-	1	0	XDH	31423147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.740000	0.38228	1.551000	0.49450	0.655000	0.94253	GAA	XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.512	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	99	0	C	NM_000379		31569643	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	nonsense	14.63	105	18	SNP	1.000	A	A	31569643	C	A	31569643	4	1	36	1	0	0	0	0	0	1	0	0	17475	864	30	3	686	3	XDH	2	31569643	Nonsense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	3966541	31569643	211629730	23	8601											
STON1	11037	genome.wustl.edu	37	chr2	48808057	48808057	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttttcctggcatcccCaaagcagggactcatgtgct	8	10	10	13	0	1	0	1	0	0	0	3	1	3	1	4	3	2	4	4	3	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:48808057C>A	ENST00000406226.1	+	3	480	c.285C>A	c.(283-285)ccC>ccA	p.P95P	STON1_ENST00000404752.1_Silent_p.P95P|STON1-GTF2A1L_ENST00000394754.1_Silent_p.P95P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P95P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P95P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P95P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P95P|STON1_ENST00000309835.3_Silent_p.P95P	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	95					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGCATCCCCAAAGCAGGGA	0.468																																																	0													120	122	121					2																	48808057		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.285C>A	2.37:g.48808057C>A			A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Silent	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.P95	ENST00000406226.1	37	c.285	CCDS1841.1	2																																																																																			STON1-GTF2A1L	-	NULL	ENSG00000068781		0.468	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	-	0	67	0	C	NM_006873		48808057	1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.995	A	A	48808057	C	A	48808057	2	1	36	1	0	0	0	0	0	0	0	1	15363	581	21	3		3	STON1	2	48808057	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	17238414	48808057	194391316	24	8602											
CNRIP1	25927	genome.wustl.edu	37	chr2	68544289	68544289	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccgcaagcaagccttacCggcatggtgatctggatggg	9	8	13	11	2	1	1	0	1	1	0	1	2	1	2	3	4	4	3	3	4	4	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:68544289C>A	ENST00000263655.3	-	2	935	c.330G>T	c.(328-330)ccG>ccT	p.P110P	CNRIP1_ENST00000409559.3_Splice_Site_p.P110P|CNRIP1_ENST00000409862.1_Silent_p.P110P|CNRIP1_ENST00000481714.1_5'UTR	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	110										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						CAAGCCTTACCGGCATGGTGA	0.478																																																	0													173	153	160					2																	68544289		2203	4300	6503	SO:0001630	splice_region_variant	0			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.330+1G>T	2.37:g.68544289C>A			B2R4D0|Q49AN4|Q9UFZ0	Silent	SNP	NULL	p.P110	ENST00000263655.3	37	c.330	CCDS1886.1	2																																																																																			CNRIP1	-	NULL	ENSG00000119865		0.478	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNRIP1	HGNC	protein_coding	OTTHUMT00000251758.1		0	67	0	C	NM_015463	Silent	68544289	-1			no_errors	ENST00000263655	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	A	A	68544289	C	A	68544289	5	1	36	1	0	0	0	0	0	0	1	0	3640	666	23	2	233	2	CNRIP1	2	68544289	Splice_Site	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	19736232	68544289	174655084	25	8603											
ZAP70	7535	genome.wustl.edu	37	chr2	98355845	98355845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacgccccacaggtgggagGatcgccccgacttcctgacc	7	5	11	18	3	0	1	0	1	0	0	2	4	1	3	7	3	0	0	7	3	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:98355845G>T	ENST00000264972.5	+	14	1959	c.1744G>T	c.(1744-1746)Gat>Tat	p.D582Y	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.D275Y|ZAP70_ENST00000442208.1_Missense_Mutation_p.D456Y	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	582	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGGTGGGAGGATCGCCCCGA	0.652																																																	0													43	40	41					2																	98355845		2203	4300	6503	SO:0001583	missense	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1744G>T	2.37:g.98355845G>T	ENSP00000264972:p.Asp582Tyr		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.D582Y	ENST00000264972.5	37	c.1744	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451066	0.63290	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83506	-1.73;-1.73;-1.73	4.51	3.56	0.40772	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.315833	0.22408	N	0.060448	D	0.88962	0.6580	M	0.80508	2.5	0.43061	D	0.994681	D;D	0.69078	0.997;0.992	D;D	0.64595	0.927;0.922	D	0.89571	0.3813	10	0.87932	D	0	.	9.284	0.37746	0.0:0.0:0.7855:0.2145	.	456;582	P43403-3;P43403	.;ZAP70_HUMAN	Y	582;456;275	ENSP00000264972:D582Y;ENSP00000411141:D456Y;ENSP00000400475:D275Y	ENSP00000264972:D582Y	D	+	1	0	ZAP70	97722277	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.288000	0.59007	2.236000	0.73375	0.655000	0.94253	GAT	ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000115085		0.652	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	-	0	92	0	G			98355845	1	tier1	-	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T	T	98355845	G	T	98355845	3	4	36	1	0	0	0	0	1	0	0	0	17563	1174	41	3	1790	3	ZAP70	2	98355845	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	29811556	98355845	144843528	26	8604											
LCT	3938	genome.wustl.edu	37	chr2	136570244	136570244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgcctctgtgaactcggGgagttgagccacaggatggg	7	9	15	10	1	2	2	0	2	2	0	3	4	2	4	2	4	3	1	2	4	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:136570244G>T	ENST00000264162.2	-	7	2000	c.1990C>A	c.(1990-1992)Ccc>Acc	p.P664T	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	664	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTGAACTCGGGGAGTTGAGCC	0.557																																																	0													121	109	113					2																	136570244		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1990C>A	2.37:g.136570244G>T	ENSP00000264162:p.Pro664Thr		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.P664T	ENST00000264162.2	37	c.1990	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239053	0.58995	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.74632	-0.86	5.49	5.49	0.81192	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.312597	0.35585	N	0.003120	D	0.90594	0.7051	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92862	0.6306	10	0.87932	D	0	-17.8491	19.3929	0.94592	0.0:0.0:1.0:0.0	.	664	P09848	LPH_HUMAN	T	664;96	ENSP00000264162:P664T	ENSP00000264162:P664T	P	-	1	0	LCT	136286714	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	9.869000	0.99810	2.583000	0.87209	0.655000	0.94253	CCC	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.557	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1		0	68	0	G	NM_002299		136570244	-1			no_errors	ENST00000264162	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	136570244	G	T	136570244	3	4	36	1	0	0	0	0	1	0	0	0	8721	1232	43	3	3837	3	LCT	2	136570244	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	38214399	136570244	106629129	27	8605											
SCN7A	6332	genome.wustl.edu	37	chr2	167279905	167279906	+	Frame_Shift_Ins	INS	-	-	T																															atattctaataaaattttaaINSttgtctttctctgatccata																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:167279905_167279906insT	ENST00000409855.1	-	18	3016_3017	c.2890_2891insA	c.(2890-2892)attfs	p.I964fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	964					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TAAAATTTTAATTGTCTTTCTC	0.287																																																	0																																										SO:0001589	frameshift_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2891dupA	2.37:g.167279907_167279907dupT	ENSP00000386796:p.Ile964fs			Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.I964fs	ENST00000409855.1	37	c.2891_2890	CCDS46442.1	2																																																																																			SCN7A	-	NULL	ENSG00000136546		0.287	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0	86	0	-			167279906	-1	tier1		no_errors	ENST00000409855	ensembl	human	known	74_37	frame_shift_ins	36.54	33	19	INS	1.000:0.999	T	T	167279906	-	T	167279905	7	5	36	1	0	1	1	0	0	0	0	0	13968	101	4	0	2189	0	SCN7A	2	167279905	Frame_Shift_Ins	INS	-	TCGA-JY-A6FB-01A-11D-A33E-09	30709661	167279905	75919468	28	8606	34	2									
SCN7A	6332	genome.wustl.edu	37	chr2	167279908	167279908	+	Missense_Mutation	SNP	G	G	A																															attctaataaaattttaattGtctttctctgatccatatat																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:167279908G>A	ENST00000409855.1	-	18	3014	c.2888C>T	c.(2887-2889)aCa>aTa	p.T963I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	963					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AATTTTAATTGTCTTTCTCTG	0.284																																																	0													38	36	36					2																	167279908		1838	4125	5963	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2888C>T	2.37:g.167279908G>A	ENSP00000386796:p.Thr963Ile			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.T963I	ENST00000409855.1	37	c.2888	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283957	0.59867	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97430	-4.38	4.65	4.65	0.58169	.	0.102204	0.43416	D	0.000577	D	0.97269	0.9107	L	0.39692	1.235	0.29117	N	0.880501	D	0.76494	0.999	D	0.83275	0.996	D	0.93798	0.7098	10	0.52906	T	0.07	.	15.3904	0.74739	0.0:0.0:1.0:0.0	.	963	Q01118	SCN7A_HUMAN	I	963	ENSP00000386796:T963I	ENSP00000259060:T963I	T	-	2	0	SCN7A	166988154	0.000000	0.05858	1.000000	0.80357	0.961000	0.63080	0.265000	0.18515	2.567000	0.86603	0.585000	0.79938	ACA	SCN7A	-	NULL	ENSG00000136546		0.284	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	86	0	G			167279908	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	45.83	26	22	SNP	1.000	A	A	167279908	G	A	167279908	3	1	36	1	0	0	0	0	1	0	0	0	13968	1377	48	3	2192	3	SCN7A	2	167279908	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3	167279908	75919465	29	8607	34	2									
LRP2	4036	genome.wustl.edu	37	chr2	170053495	170053495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaatgttgaggaatacagCgcccagatgcgcattggaac	13	7	11	10	2	0	2	0	1	0	1	0	4	0	4	2	2	4	2	2	2	4	3	rs369195059	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:170053495C>T	ENST00000263816.3	-	46	8909	c.8624G>A	c.(8623-8625)cGc>cAc	p.R2875H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2875	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGGAATACAGCGCCCAGATGC	0.458													C|||	2	0.000399361	0	0	5008	,	,		21657	0.002		0	False		,,,				2504	0																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101	88	92		8624	2.4	0.1	2		92	0,8600		0,0,4300	no	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2875/4656	170053495	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8624G>A	2.37:g.170053495C>T	ENSP00000263816:p.Arg2875His		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R2875H	ENST00000263816.3	37	c.8624	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400954	0.62177	2.27E-4	0.0	ENSG00000081479	ENST00000263816	D	0.96041	-3.89	6.17	2.42	0.29668	.	0.143639	0.64402	N	0.000004	D	0.96281	0.8787	L	0.61218	1.895	0.09310	N	0.999999	D	0.89917	1.0	D	0.70716	0.97	D	0.90887	0.4758	10	0.72032	D	0.01	.	9.2708	0.37670	0.0:0.6407:0.2359:0.1234	.	2875	P98164	LRP2_HUMAN	H	2875	ENSP00000263816:R2875H	ENSP00000263816:R2875H	R	-	2	0	LRP2	169761741	0.786000	0.28738	0.057000	0.19452	0.721000	0.41392	0.828000	0.27435	0.176000	0.19873	0.655000	0.94253	CGC	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	80	0	C	NM_004525		170053495	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	6.35	58	4	SNP	0.007	T	T	170053495	C	T	170053495	3	4	36	1	0	0	0	0	1	0	0	0	8991	768	27	1	5479	1	LRP2	2	170053495	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2773587	170053495	73145878	30	8608											
TTN	7273	genome.wustl.edu	37	chr2	179443708	179443708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgttcacagaatccctCttctctaggatatagttggt	8	17	8	8	0	3	1	1	0	2	1	5	2	4	2	1	2	0	3	1	2	4	8			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:179443708C>A	ENST00000591111.1	-	270	63350	c.63126G>T	c.(63124-63126)aaG>aaT	p.K21042N	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K13743N|TTN_ENST00000460472.2_Missense_Mutation_p.K13618N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K22683N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K13810N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20115N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21042	Fibronectin type-III 52. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATCCCTCTTCTCTAGGA	0.453																																																	0													94	92	92					2																	179443708		1961	4137	6098	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63126G>T	2.37:g.179443708C>A	ENSP00000465570:p.Lys21042Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K20115N	ENST00000591111.1	37	c.60345		2	.	.	.	.	.	.	.	.	.	.	C	9.945	1.218433	0.22373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.76	2.99	0.34606	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77592	0.4153	H	0.94183	3.505	0.52501	D	0.999953	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81553	-0.0880	9	0.87932	D	0	.	10.9826	0.47504	0.0:0.6924:0.0:0.3076	.	13618;13743;13810;21042	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20115;13618;13810;13743;13616	ENSP00000343764:K20115N;ENSP00000434586:K13618N;ENSP00000340554:K13810N;ENSP00000352154:K13743N	ENSP00000340554:K13810N	K	-	3	2	TTN	179151954	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.568000	0.36418	0.777000	0.33496	-0.143000	0.13931	AAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	56	0	C	NM_133378		179443708	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	A	A	179443708	C	A	179443708	3	1	36	1	0	0	0	0	1	0	0	0	16784	912	32	3	40102	3	TTN	2	179443708	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	9390213	179443708	63755665	31	8609											
SESTD1	91404	genome.wustl.edu	37	chr2	180047847	180047847	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaaggtgacactcagctCatccatatttgtctgttcga	9	14	8	10	1	4	1	2	1	2	0	6	2	5	1	1	1	1	2	1	1	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:180047847C>A	ENST00000428443.3	-	3	440	c.124G>T	c.(124-126)Gag>Tag	p.E42*	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	42	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACACTCAGCTCATCCATATTT	0.358																																																	0													115	117	116					2																	180047847		2203	4300	6503	SO:0001587	stop_gained	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.124G>T	2.37:g.180047847C>A	ENSP00000415332:p.Glu42*		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Nonsense_Mutation	SNP	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E42*	ENST00000428443.3	37	c.124	CCDS33338.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.786699	0.96937	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.8472	19.4431	0.94831	0.0:1.0:0.0:0.0	.	.	.	.	X	42	.	.	E	-	1	0	SESTD1	179756092	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.246000	0.78247	2.660000	0.90430	0.655000	0.94253	GAG	SESTD1	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000187231		0.358	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	-	0	45	0	C	NM_178123		180047847	-1	tier1	-	no_errors	ENST00000428443	ensembl	human	known	74_37	nonsense	37.04	34	20	SNP	1.000	A	A	180047847	C	A	180047847	4	1	36	1	0	0	0	0	0	1	0	0	14172	835	29	3	2030	3	SESTD1	2	180047847	Nonsense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	604139	180047847	63151526	32	8610											
CPS1	1373	genome.wustl.edu	37	chr2	211515163	211515163	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcgactagagtttctcagGtagtgtccaatttctttgta	9	15	10	7	1	2	1	1	0	2	1	4	2	3	1	1	2	0	3	1	2	4	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:211515163G>T	ENST00000233072.5	+	28	3676		c.e28+1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGTTTCTCAGGTAGTGTCCAA	0.358																																																	0													116	116	116					2																	211515163		2203	4300	6503	SO:0001630	splice_region_variant	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3480+1G>T	2.37:g.211515163G>T			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	-	e29+1	ENST00000233072.5	37	c.3498+1	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230023	0.79688	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0281	0.97530	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211223408	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	8.794000	0.91867	2.818000	0.97014	0.655000	0.94253	.	CPS1	-	-	ENSG00000021826		0.358	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	94	0	G		Intron	211515163	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	splice_site	22.34	73	21	SNP	1.000	T	T	211515163	G	T	211515163	5	4	36	1	0	0	0	0	0	0	1	0	3830	1275	44	3	3613	3	CPS1	2	211515163	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	31467316	211515163	31684210	33	8611											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217315721	217315721	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgattgccccaggacgGatcaatgccaggaccagagc	10	6	14	11	1	1	2	1	1	0	1	1	5	1	5	4	4	3	0	4	4	1	1	rs369431487		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:217315721G>T	ENST00000357276.4	+	12	2334	c.2004G>T	c.(2002-2004)cgG>cgT	p.R668R	SMARCAL1_ENST00000358207.5_Silent_p.R668R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	668					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCCCAGGACGGATCAATGCCA	0.582									Schimke Immuno-Osseous Dysplasia																																								0													57	59	59					2																	217315721		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.2004G>T	2.37:g.217315721G>T			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R668	ENST00000357276.4	37	c.2004	CCDS2403.1	2																																																																																			SMARCAL1	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000138375		0.582	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	-	0	56	0	G			217315721	1	tier1	-	no_errors	ENST00000357276	ensembl	human	known	74_37	silent	9.62	47	5	SNP	0.976	T	T	217315721	G	T	217315721	2	4	36	1	0	0	0	0	0	0	0	1	14818	1161	41	3		3	SMARCAL1	2	217315721	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	5800558	217315721	25883652	34	8612											
TNS1	7145	genome.wustl.edu	37	chr2	218699888	218699888	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgtagctgtgcaaatggGgctgtgggagaacacagggg	9	8	17	7	0	0	1	0	0	0	1	0	2	0	1	1	5	3	4	1	5	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:218699888G>T	ENST00000171887.4	-	19	3283	c.2831C>A	c.(2830-2832)cCc>cAc	p.P944H	TNS1_ENST00000430930.1_Splice_Site_p.P944H|TNS1_ENST00000419504.1_Splice_Site_p.P944H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	944					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GTGCAAATGGGGCTGTGGGAG	0.552																																																	0													55	46	49					2																	218699888		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2830-1C>A	2.37:g.218699888G>T			Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.P944H	ENST00000171887.4	37	c.2831	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528083	0.85706	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92099	-2.97;2.15;-2.9;-2.94	5.31	5.31	0.75309	.	0.868979	0.10103	N	0.715734	D	0.93119	0.7809	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.66196	0.897;0.942;0.862	D	0.90294	0.4325	10	0.38643	T	0.18	.	17.9011	0.88904	0.0:0.0:1.0:0.0	.	944;944;944	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	H	944;103;944;944	ENSP00000171887:P944H;ENSP00000394171:P103H;ENSP00000408724:P944H;ENSP00000406016:P944H	ENSP00000171887:P944H	P	-	2	0	TNS1	218408133	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.734000	0.55037	2.749000	0.94314	0.655000	0.94253	CCC	TNS1	-	NULL	ENSG00000079308		0.552	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	-	0	110	0	G	NM_022648	Missense_Mutation	218699888	-1	tier1	-	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	5.43	87	5	SNP	1.000	T	T	218699888	G	T	218699888	5	4	36	1	0	0	0	0	0	0	1	0	16390	1246	43	3	2436	3	TNS1	2	218699888	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1384167	218699888	24499485	35	8613											
ZNF142	7701	genome.wustl.edu	37	chr2	219509734	219509734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgccgcagcttgtggCtgctcagctgatcagcccgg	5	9	13	14	2	2	2	2	2	0	0	2	2	2	2	3	2	5	5	3	2	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:219509734C>A	ENST00000449707.1	-	8	1926	c.1505G>T	c.(1504-1506)aGc>aTc	p.S502I	ZNF142_ENST00000411696.2_Missense_Mutation_p.S502I	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGCTTGTGGCTGCTCAGCTG	0.552																																					Colon(170;867 1942 8995 15834 18053)												0													52	58	56					2																	219509734		2158	4262	6420	SO:0001583	missense	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1505G>T	2.37:g.219509734C>A	ENSP00000408643:p.Ser502Ile		Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S502I	ENST00000449707.1	37	c.1505	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598680	0.87055	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.40476	1.03;1.03	5.94	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.037067	0.85682	D	0.000000	T	0.46870	0.1415	N	0.12471	0.22	0.48901	D	0.999721	D;D	0.71674	0.998;0.998	D;D	0.85130	0.994;0.997	T	0.47774	-0.9091	10	0.39692	T	0.17	-2.8221	16.6436	0.85155	0.0:0.8704:0.1296:0.0	.	502;339	P52746;A8MWU9	ZN142_HUMAN;.	I	502	ENSP00000408643:S502I;ENSP00000398798:S502I	ENSP00000398798:S502I	S	-	2	0	ZNF142	219217978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.008000	0.70739	2.820000	0.97059	0.650000	0.86243	AGC	ZNF142	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000115568		0.552	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	-	0	39	0	C	NM_005081		219509734	-1	tier1	-	no_errors	ENST00000411696	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	219509734	C	A	219509734	3	1	36	1	0	0	0	0	1	0	0	0	17779	797	28	3	3570	3	ZNF142	2	219509734	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	809846	219509734	23689639	36	8614											
ABCB6	10058	genome.wustl.edu	37	chr2	220083263	220083263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcagggaagagccagcaCcaaggccagagtccccagag	12	3	13	13	0	1	3	0	0	1	3	2	4	2	4	5	2	3	2	5	2	2	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:220083263C>T	ENST00000265316.3	-	1	449	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	ABCB6_ENST00000439002.2_Missense_Mutation_p.V45M	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	45					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGCCAGCACCAAGGCCAGA	0.682																																																	0													16	20	18					2																	220083263		2196	4290	6486	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.133G>A	2.37:g.220083263C>T	ENSP00000265316:p.Val45Met		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V45M	ENST00000265316.3	37	c.133	CCDS2436.1	2	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256838	0.59321	.	.	ENSG00000115657	ENST00000265316;ENST00000439002;ENST00000427013	T;T	0.79141	-1.24;-1.24	5.21	4.33	0.51752	.	0.484707	0.21833	N	0.068446	T	0.69735	0.3144	N	0.24115	0.695	0.80722	D	1	D;P	0.57899	0.981;0.943	P;P	0.53062	0.717;0.525	T	0.70299	-0.4910	10	0.56958	D	0.05	-12.6437	3.5706	0.07916	0.2535:0.4624:0.2043:0.0798	.	45;45	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	M	45	ENSP00000265316:V45M;ENSP00000394333:V45M	ENSP00000265316:V45M	V	-	1	0	ABCB6	219791507	0.970000	0.33590	1.000000	0.80357	0.631000	0.37964	0.143000	0.16115	1.436000	0.47453	-0.218000	0.12543	GTG	ABCB6	-	NULL	ENSG00000115657		0.682	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	-	0	119	0	C	NM_005689		220083263	-1	tier1	-	no_errors	ENST00000265316	ensembl	human	known	74_37	missense	17.78	74	16	SNP	1.000	T	T	220083263	C	T	220083263	3	4	36	1	0	0	0	0	1	0	0	0	45	507	18	3	2471	3	ABCB6	2	220083263	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	573529	220083263	23116110	37	8615											
GAL3ST2	64090	genome.wustl.edu	37	chr2	242743043	242743043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgccgaggtggagcggcGcttccggctggtgctcatcg	4	8	16	13	6	1	0	1	0	0	0	4	2	2	1	2	5	2	3	2	5	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr2:242743043G>A	ENST00000192314.6	+	4	790	c.659G>A	c.(658-660)cGc>cAc	p.R220H	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	220	Arg-rich.				biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GTGGAGCGGCGCTTCCGGCTG	0.692																																																	0													20	16	17					2																	242743043		2154	4204	6358	SO:0001583	missense	0			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.659G>A	2.37:g.242743043G>A	ENSP00000192314:p.Arg220His		Q17RK0|Q57Z52	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.R220H	ENST00000192314.6	37	c.659	CCDS33427.1	2	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710769	0.48517	.	.	ENSG00000154252	ENST00000192314	T	0.16897	2.31	4.12	1.21	0.21127	.	0.395299	0.22086	N	0.064827	T	0.15912	0.0383	M	0.74389	2.26	0.26730	N	0.970614	B	0.33841	0.428	B	0.29598	0.104	T	0.14755	-1.0461	10	0.59425	D	0.04	-28.334	4.4939	0.11828	0.4119:0.1673:0.4208:0.0	.	220	Q9H3Q3	G3ST2_HUMAN	H	220	ENSP00000192314:R220H	ENSP00000192314:R220H	R	+	2	0	GAL3ST2	242391716	0.000000	0.05858	0.978000	0.43139	0.812000	0.45895	-0.409000	0.07160	0.322000	0.23283	0.462000	0.41574	CGC	GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	ENSG00000154252		0.692	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	-	0	41	0	G	NM_022134		242743043	1	tier1	-	no_errors	ENST00000192314	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.924	A	A	242743043	G	A	242743043	3	1	36	1	0	0	0	0	1	0	0	0	6223	1087	38	1	673	1	GAL3ST2	2	242743043	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	22659780	242743043	456330	38	8616											
CNTN4	152330	genome.wustl.edu	37	chr3	3080635	3080635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccccgaagtcacaccagCgaatgtcagtggtggcggag	10	6	14	11	3	2	0	2	0	0	0	3	3	3	1	3	3	1	0	3	3	2	0	rs548465694	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:3080635C>T	ENST00000397461.1	+	18	2495	c.2111C>T	c.(2110-2112)gCg>gTg	p.A704V	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.A376V|CNTN4_ENST00000358480.3_Missense_Mutation_p.A485V|CNTN4_ENST00000418658.1_Missense_Mutation_p.A704V|CNTN4_ENST00000448906.2_Missense_Mutation_p.A376V|CNTN4_ENST00000427331.1_Missense_Mutation_p.A704V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	704	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTCACACCAGCGAATGTCAGT	0.498													C|||	2	0.000399361	0	0	5008	,	,		20205	0		0	False		,,,				2504	0.002																0													103	97	99					3																	3080635		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2111C>T	3.37:g.3080635C>T	ENSP00000380602:p.Ala704Val		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A704V	ENST00000397461.1	37	c.2111	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177368	0.57692	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.49	5.49	0.81192	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39200	0.1069	L	0.38953	1.18	0.80722	D	1	B;B	0.27656	0.076;0.184	B;B	0.18263	0.021;0.014	T	0.13656	-1.0501	10	0.27785	T	0.31	.	17.5773	0.87953	0.0:1.0:0.0:0.0	.	703;704	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	V	704;704;704;485;376;376	ENSP00000396010:A704V;ENSP00000380602:A704V;ENSP00000413642:A704V;ENSP00000351267:A485V;ENSP00000380600:A376V;ENSP00000392077:A376V	ENSP00000351267:A485V	A	+	2	0	CNTN4	3055635	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	7.311000	0.78958	2.565000	0.86533	0.655000	0.94253	GCG	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.498	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0	98	0	C			3080635	1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	5.75	82	5	SNP	1.000	T	T	3080635	C	T	3080635	3	4	36	1	0	0	0	0	1	0	0	0	3650	768	27	1	2173	1	CNTN4	3	3080635	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09		3080635	194941795	39	8617											
EDEM1	9695	genome.wustl.edu	37	chr3	5244835	5244835	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgatacaggattactagGtgtggcacctttcctcgcca	10	11	9	11	1	0	1	0	1	0	0	2	2	1	2	3	3	2	1	3	3	4	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:5244835G>T	ENST00000256497.4	+	5	1175		c.e5+1		EDEM1_ENST00000445686.1_Splice_Site	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GGATTACTAGGTGTGGCACCT	0.522																																																	0													95	98	97					3																	5244835		2203	4300	6503	SO:0001630	splice_region_variant	0			D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1042+1G>T	3.37:g.5244835G>T			A8K9C8|B4DXP3	Splice_Site	SNP	-	e5+1	ENST00000256497.4	37	c.1042+1	CCDS33686.1	3	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265591	0.59431	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9535	0.92649	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EDEM1	5219835	1.000000	0.71417	0.969000	0.41365	0.423000	0.31445	9.205000	0.95048	2.532000	0.85374	0.650000	0.86243	.	EDEM1	-	-	ENSG00000134109		0.522	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM1	HGNC	protein_coding	OTTHUMT00000337566.2	-	0	68	0	G	NM_014674	Intron	5244835	1	tier1	-	no_errors	ENST00000256497	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	T	T	5244835	G	T	5244835	5	4	36	1	0	0	0	0	0	0	1	0	4925	1275	44	3	1061	3	EDEM1	3	5244835	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2164200	5244835	192777595	40	8618											
SCN11A	11280	genome.wustl.edu	37	chr3	38913192	38913194	+	In_Frame_Del	DEL	ACC	ACC	-																															tggcacctatgagagcattgAccaccaccttatggaaacaa																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:38913192_38913194delACC	ENST00000302328.3	-	21	3699_3701	c.3501_3503delGGT	c.(3499-3504)gtggtc>gtc	p.1167_1168VV>V	SCN11A_ENST00000444237.2_In_Frame_Del_p.1167_1168VV>V|SCN11A_ENST00000456224.3_In_Frame_Del_p.1129_1130VV>V|SCN11A_ENST00000450244.1_In_Frame_Del_p.1167_1168VV>V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1167					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGAGCATTGACCACCACCTTAT	0.443																																																	0																																										SO:0001651	inframe_deletion	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3501_3503delGGT	3.37:g.38913198_38913200delACC	ENSP00000307599:p.Val1168del		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.V1168in_frame_del	ENST00000302328.3	37	c.3503_3501	CCDS33737.1	3																																																																																			SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4		0	56	0	ACC	NM_014139		38913194	-1	tier1		no_errors	ENST00000302328	ensembl	human	known	74_37	in_frame_del	33.33	24	12	DEL	1.000:1.000:0.039	-	-	38913194	ACC	-	38913192	7	5	36	1	0	1	0	1	0	0	0	0	13958	275	10	0	1896	0	SCN11A	3	38913192	In_Frame_Del	DEL	ACC	TCGA-JY-A6FB-01A-11D-A33E-09	33668357	38913192	159109238	41	8619											
SACM1L	22908	genome.wustl.edu	37	chr3	45776840	45776840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagagtttgttagctcGtcgttcacttcaggcccaac	8	12	9	12	2	2	1	2	0	0	1	5	2	3	1	2	1	2	4	2	1	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:45776840G>A	ENST00000389061.5	+	14	1418	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	SACM1L_ENST00000541314.1_Missense_Mutation_p.R344H|SACM1L_ENST00000418611.1_Missense_Mutation_p.R302H	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	405	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTGTTAGCTCGTCGTTCACTT	0.413																																																	0													159	135	143					3																	45776840		2203	4300	6503	SO:0001583	missense	0			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1214G>A	3.37:g.45776840G>A	ENSP00000373713:p.Arg405His		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.R405H	ENST00000389061.5	37	c.1214	CCDS33745.1	3	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038482	0.55003	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314;ENST00000433336	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.68	3.63	0.41609	Synaptojanin, N-terminal (1);	0.157463	0.64402	N	0.000016	T	0.32255	0.0823	M	0.64630	1.985	0.80722	D	1	B;B;B	0.34103	0.293;0.033;0.437	B;B;B	0.27170	0.057;0.031;0.077	T	0.18085	-1.0348	10	0.51188	T	0.08	-3.7603	10.7926	0.46443	0.1769:0.0:0.8231:0.0	.	344;48;405	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	H	302;405;344;82	ENSP00000396387:R302H;ENSP00000373713:R405H;ENSP00000443373:R344H;ENSP00000412883:R82H	ENSP00000373713:R405H	R	+	2	0	SACM1L	45751844	1.000000	0.71417	0.559000	0.28332	0.997000	0.91878	4.622000	0.61240	1.148000	0.42385	0.585000	0.79938	CGT	SACM1L	-	pfscan_Syja_N	ENSG00000211456		0.413	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACM1L	HGNC	protein_coding	OTTHUMT00000345065.2	-	0	89	0	G	NM_014016		45776840	1	tier1	-	no_errors	ENST00000389061	ensembl	human	known	74_37	missense	25.64	58	20	SNP	0.983	A	A	45776840	G	A	45776840	3	1	36	1	0	0	0	0	1	0	0	0	13848	1145	40	1	1268	1	SACM1L	3	45776840	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	6863648	45776840	152245590	42	8620											
LTF	4057	genome.wustl.edu	37	chr3	46497888	46497888	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacagcatcggccctgttttCctgaaagtaaagaggccaga	12	8	10	11	1	0	3	0	1	0	2	2	3	1	3	3	2	1	3	3	2	3	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:46497888C>T	ENST00000231751.4	-	3	503	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	LTF_ENST00000417439.1_Splice_Site_p.E70K|LTF_ENST00000426532.2_Splice_Site_p.E26K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	70	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.E70K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GCCCTGTTTTCCTGAAAGTAA	0.552																																																	1	Substitution - Missense(1)	skin(1)											51	51	51					3																	46497888		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.208-1G>A	3.37:g.46497888C>T			A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E70K	ENST00000231751.4	37	c.208	CCDS33747.1	3	.	.	.	.	.	.	.	.	.	.	C	4.860	0.159899	0.09287	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496;ENST00000443743;ENST00000431944;ENST00000415180	T;T;T;T;T;T	0.34472	2.62;2.62;2.62;2.62;1.36;1.36	4.49	-3.43	0.04810	.	1.659760	0.03029	N	0.151847	T	0.18509	0.0444	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.19583	0.002;0.037;0.002	B;B;B	0.25987	0.013;0.065;0.013	T	0.16748	-1.0392	10	0.15499	T	0.54	-16.1431	6.7423	0.23443	0.1247:0.3087:0.0:0.5666	.	70;57;70	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	K	70;26;70;57;70;81;26	ENSP00000231751:E70K;ENSP00000405719:E26K;ENSP00000405546:E70K;ENSP00000397427:E57K;ENSP00000395234:E81K;ENSP00000400254:E26K	ENSP00000231751:E70K	E	-	1	0	LTF	46472892	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-0.733000	0.04898	-0.943000	0.03691	-0.137000	0.14449	GAA	LTF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	ENSG00000012223		0.552	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2		0	76	0	C	NM_002343	Missense_Mutation	46497888	-1			no_errors	ENST00000231751	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.007	T	T	46497888	C	T	46497888	5	4	36	1	0	0	0	0	0	0	1	0	9114	869	30	3	1984	3	LTF	3	46497888	Splice_Site	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	721048	46497888	151524542	43	8621											
ALS2CL	259173	genome.wustl.edu	37	chr3	46723579	46723579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccatccggccatttcaggGttcccctggaacacagtgga	8	8	11	14	1	1	0	1	0	0	0	3	2	3	2	5	4	1	1	5	4	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:46723579G>T	ENST00000318962.4	-	11	1198	c.1115C>A	c.(1114-1116)aCc>aAc	p.T372N	ALS2CL_ENST00000415953.1_Missense_Mutation_p.T372N	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	372					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCATTTCAGGGTTCCCCTGGA	0.622																																																	0													55	50	52					3																	46723579		2203	4300	6503	SO:0001583	missense	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1115C>A	3.37:g.46723579G>T	ENSP00000313670:p.Thr372Asn		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.T372N	ENST00000318962.4	37	c.1115	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897288	0.52121	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.58060	0.36;0.36	4.74	4.74	0.60224	.	0.176811	0.38058	N	0.001831	T	0.67767	0.2928	M	0.64567	1.98	0.80722	D	1	D	0.69078	0.997	D	0.70016	0.967	T	0.65907	-0.6054	10	0.35671	T	0.21	.	15.257	0.73593	0.0:0.0:1.0:0.0	.	372	Q60I27	AL2CL_HUMAN	N	372	ENSP00000313670:T372N;ENSP00000413223:T372N	ENSP00000313670:T372N	T	-	2	0	ALS2CL	46698583	0.998000	0.40836	0.998000	0.56505	0.518000	0.34316	2.956000	0.49129	2.456000	0.83038	0.557000	0.71058	ACC	ALS2CL	-	pfam_MORN,smart_MORN	ENSG00000178038		0.622	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	-	0	85	0	G	NM_147129		46723579	-1	tier1	-	no_errors	ENST00000318962	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.997	T	T	46723579	G	T	46723579	3	4	36	1	0	0	0	0	1	0	0	0	551	1261	44	3	1810	3	ALS2CL	3	46723579	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	225691	46723579	151298851	44	8622											
IP6K2	51447	genome.wustl.edu	37	chr3	48732632	48732632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcattgaagcggagcacGcatgagtgccccccgacctg	8	7	12	14	3	1	2	1	2	1	0	2	4	1	3	4	1	3	2	4	1	1	1	rs369490009		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:48732632G>A	ENST00000328631.5	-	2	316	c.93C>T	c.(91-93)tgC>tgT	p.C31C	IP6K2_ENST00000449610.1_Silent_p.C31C|IP6K2_ENST00000413298.1_Silent_p.C31C|IP6K2_ENST00000450045.1_Silent_p.C85C|IP6K2_ENST00000443964.1_Silent_p.C90C|IP6K2_ENST00000453202.1_Silent_p.C31C|IP6K2_ENST00000431721.2_Silent_p.C86C|IP6K2_ENST00000417896.1_Silent_p.C31C|IP6K2_ENST00000432678.2_Silent_p.C31C|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000446860.1_Silent_p.C89C|IP6K2_ENST00000340879.4_Silent_p.C31C	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	31					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						AGCGGAGCACGCATGAGTGCC	0.622																																																	0								G	,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	88	86	87		93,93,93,93,93,258,267,93	-8.9	0.1	3		87	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IP6K2	NM_001005909.2,NM_001005910.2,NM_001005911.2,NM_001146178.2,NM_001146179.2,NM_001190316.1,NM_001190317.1,NM_016291.3	,,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,	31/427,31/98,31/98,31/88,31/88,86/186,89/189,31/427	48732632	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.93C>T	3.37:g.48732632G>A			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	pfam_IPK	p.C31	ENST00000328631.5	37	c.93	CCDS2777.1	3																																																																																			IP6K2	-	NULL	ENSG00000068745		0.622	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2		0	76	0	G	NM_016291		48732632	-1			no_errors	ENST00000328631	ensembl	human	known	74_37	silent	5.77	49	3	SNP	0.631	A	A	48732632	G	A	48732632	2	1	36	1	0	0	0	0	0	0	0	1	7816	1079	38	1		1	IP6K2	3	48732632	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2009053	48732632	149289798	45	8623											
MYH15	22989	genome.wustl.edu	37	chr3	108107869	108107869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgcgggctcccctctggGcctctgcactgcgacggatt	3	10	13	15	3	3	0	0	0	3	0	4	2	4	1	3	3	3	2	3	3	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:108107869G>T	ENST00000273353.3	-	39	5599	c.5543C>A	c.(5542-5544)gCc>gAc	p.A1848D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1848						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCCCTCTGGGCCTCTGCACT	0.572																																																	0													117	122	120					3																	108107869		2034	4199	6233	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5543C>A	3.37:g.108107869G>T	ENSP00000273353:p.Ala1848Asp			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.A1848D	ENST00000273353.3	37	c.5543	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993232	0.74703	.	.	ENSG00000144821	ENST00000273353	D	0.83335	-1.71	5.98	2.56	0.30785	Myosin tail (1);	.	.	.	.	D	0.85630	0.5741	M	0.72479	2.2	0.09310	N	1	P	0.49447	0.924	P	0.55161	0.77	T	0.75153	-0.3418	9	0.87932	D	0	.	5.1242	0.14876	0.0941:0.1356:0.6302:0.1401	.	1848	Q9Y2K3	MYH15_HUMAN	D	1848	ENSP00000273353:A1848D	ENSP00000273353:A1848D	A	-	2	0	MYH15	109590559	0.000000	0.05858	0.114000	0.21550	0.278000	0.26855	0.781000	0.26774	0.612000	0.30071	0.655000	0.94253	GCC	MYH15	-	pfam_Myosin_tail	ENSG00000144821		0.572	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	-	0	86	0	G	XM_036988		108107869	-1	tier1	-	no_errors	ENST00000273353	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.005	T	T	108107869	G	T	108107869	3	4	36	1	0	0	0	0	1	0	0	0	10072	1203	42	3	313	3	MYH15	3	108107869	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	59375237	108107869	89914561	46	8624											
PODXL2	50512	genome.wustl.edu	37	chr3	127379570	127379570	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggcctcatcaggtgtGgaggtggagagcagcatggg	9	6	18	8	0	2	1	2	0	0	1	2	4	2	2	2	6	2	2	2	6	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:127379570G>T	ENST00000342480.6	+	3	738	c.699G>T	c.(697-699)gtG>gtT	p.V233V		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	233					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CATCAGGTGTGGAGGTGGAGA	0.627																																																	0													62	70	68					3																	127379570		2203	4300	6503	SO:0001819	synonymous_variant	0			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"endoglycan"					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.699G>T	3.37:g.127379570G>T			Q6UVY4|Q8WUV6	Silent	SNP	pfam_CD34/Podocalyxin	p.V233	ENST00000342480.6	37	c.699	CCDS3044.1	3																																																																																			PODXL2	-	NULL	ENSG00000114631		0.627	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	-	0	67	0	G	NM_015720		127379570	1	tier1	-	no_errors	ENST00000342480	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.741	T	T	127379570	G	T	127379570	2	4	36	1	0	0	0	0	0	0	0	1	12220	1335	47	3		3	PODXL2	3	127379570	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	19271701	127379570	70642860	47	8625											
PLXND1	23129	genome.wustl.edu	37	chr3	129286546	129286546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccccgcccactacctttgCggatttcctctcggatctga	5	12	8	16	3	2	1	0	1	2	0	5	3	4	3	5	2	2	0	5	2	1	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:129286546C>T	ENST00000324093.4	-	21	4146	c.3968G>A	c.(3967-3969)cGc>cAc	p.R1323H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1323H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1323					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.R1323H(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTACCTTTGCGGATTTCCTC	0.612																																					Ovarian(97;366 1484 3738 22084 39045)												1	Substitution - Missense(1)	large_intestine(1)											71	65	67					3																	129286546		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3968G>A	3.37:g.129286546C>T	ENSP00000317128:p.Arg1323His		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1323H	ENST00000324093.4	37	c.3968	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512850	0.85389	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.39406	1.14;1.08	5.3	4.42	0.53409	.	0.144561	0.46758	D	0.000274	T	0.60573	0.2279	M	0.66939	2.045	0.54753	D	0.999983	D	0.89917	1.0	D	0.85130	0.997	T	0.63559	-0.6610	10	0.87932	D	0	.	11.2454	0.48993	0.0:0.8012:0.128:0.0708	.	1323	Q9Y4D7	PLXD1_HUMAN	H	1323	ENSP00000317128:R1323H;ENSP00000376931:R1323H	ENSP00000317128:R1323H	R	-	2	0	PLXND1	130769236	1.000000	0.71417	0.885000	0.34714	0.894000	0.52154	5.332000	0.65911	1.228000	0.43614	0.655000	0.94253	CGC	PLXND1	-	NULL	ENSG00000004399		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	61	0	C	NM_015103		129286546	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	25.00	36	12	SNP	0.998	T	T	129286546	C	T	129286546	3	4	36	1	0	0	0	0	1	0	0	0	12166	768	27	1	1873	1	PLXND1	3	129286546	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1906976	129286546	68735884	48	8626											
PLD1	5337	genome.wustl.edu	37	chr3	171453400	171453400	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattccccatgtgttaattCaatagtgtaaagattaatac	16	14	5	6	0	1	1	1	0	0	1	2	1	2	1	2	0	1	2	2	0	8	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:171453400C>A	ENST00000351298.4	-	4	442	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	PLD1_ENST00000340989.4_Nonsense_Mutation_p.E106*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.E106*|PLD1_ENST00000356327.5_Nonsense_Mutation_p.E106*	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	106	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGTGTTAATTCAATAGTGTAA	0.308																																					NSCLC(149;2174 3517 34058)												0													82	78	79					3																	171453400		2203	4300	6503	SO:0001587	stop_gained	0			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"Pleckstrin homology (PH) domain containing"	9067	protein-coding gene	gene with protein product	"choline phosphatase 1"	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.316G>T	3.37:g.171453400C>A	ENSP00000342793:p.Glu106*			Nonsense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.E106*	ENST00000351298.4	37	c.316	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.127480	0.94473	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000342215;ENST00000340989;ENST00000418087	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-26.7375	18.3134	0.90208	0.0:1.0:0.0:0.0	.	.	.	.	X	106	.	ENSP00000340326:E106X	E	-	1	0	PLD1	172936094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.454000	0.73493	2.397000	0.81536	0.563000	0.77884	GAA	PLD1	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox	ENSG00000075651		0.308	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	-	0	78	0	C	NM_002662		171453400	-1	tier1	-	no_errors	ENST00000351298	ensembl	human	known	74_37	nonsense	5.21	91	5	SNP	1.000	A	A	171453400	C	A	171453400	4	1	36	1	0	0	0	0	0	1	0	0	12084	835	29	3	3004	3	PLD1	3	171453400	Nonsense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	42166854	171453400	26569030	49	8627											
DVL3	1857	genome.wustl.edu	37	chr3	183888379	183888379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtgccccctctctacGgcccccccatgctgatgatg	5	8	10	18	2	1	2	0	2	1	0	2	3	1	3	6	2	3	1	6	2	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:183888379G>A	ENST00000313143.3	+	15	2235	c.1987G>A	c.(1987-1989)Ggc>Agc	p.G663S	DVL3_ENST00000431765.1_Missense_Mutation_p.G646S|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	663					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCTCTCTACGGCCCCCCCAT	0.736																																																	0													25	32	30					3																	183888379		2198	4294	6492	SO:0001583	missense	0			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1987G>A	3.37:g.183888379G>A	ENSP00000316054:p.Gly663Ser		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3	p.G663S	ENST00000313143.3	37	c.1987	CCDS3253.1	3	.	.	.	.	.	.	.	.	.	.	G	12.19	1.864261	0.32977	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.03580	3.89;3.88	3.91	3.03	0.35002	Dishevelled C-terminal (1);	0.095467	0.45867	D	0.000335	T	0.01940	0.0061	N	0.11927	0.2	0.43203	D	0.995052	B;B;B;B	0.23185	0.081;0.012;0.023;0.081	B;B;B;B	0.22152	0.038;0.038;0.004;0.038	T	0.45041	-0.9288	10	0.07030	T	0.85	-2.165	7.5701	0.27902	0.269:0.0:0.731:0.0	.	646;495;663;663	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	S	663;663;646	ENSP00000316054:G663S;ENSP00000405885:G646S	ENSP00000316054:G663S	G	+	1	0	DVL3	185371073	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.651000	0.54431	0.755000	0.32990	0.561000	0.74099	GGC	DVL3	-	pfam_Dishevelled_C-dom	ENSG00000161202		0.736	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DVL3	HGNC	protein_coding	OTTHUMT00000346184.1	-	0	45	0	G	NM_004423		183888379	1	tier1	-	no_errors	ENST00000313143	ensembl	human	known	74_37	missense	18.42	30	7	SNP	1.000	A	A	183888379	G	A	183888379	3	1	36	1	0	0	0	0	1	0	0	0	4851	1116	39	1	2045	1	DVL3	3	183888379	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	12434979	183888379	14134051	50	8628											
AHSG	197	genome.wustl.edu	37	chr3	186333473	186333473	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcactctttgtctccacaGcagccctccggagagctgtt	6	12	8	15	1	3	1	1	0	2	1	5	2	4	1	3	1	3	3	3	1	0	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:186333473G>T	ENST00000273784.5	+	2	289		c.e2-1		AHSG_ENST00000411641.2_Splice_Site	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein						acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TGTCTCCACAGCAGCCCTCCG	0.582											OREG0015967	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													51	52	52					3																	186333473		2203	4300	6503	SO:0001630	splice_region_variant	0			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.214-1G>T	3.37:g.186333473G>T		2006	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Splice_Site	SNP	-	e2-1	ENST00000273784.5	37	c.214-1		3	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983111	0.18889	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	.	.	.	5.58	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7865	0.46409	0.0871:0.0:0.9129:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AHSG	187816167	1.000000	0.71417	0.970000	0.41538	0.045000	0.14185	4.026000	0.57232	1.510000	0.48803	0.655000	0.94253	.	AHSG	-	-	ENSG00000145192		0.582	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	AHSG	HGNC	protein_coding	OTTHUMT00000344762.1		0	54	0	G	NM_001622	Intron	186333473	1			no_errors	ENST00000411641	ensembl	human	known	74_37	splice_site	8.82	31	3	SNP	0.989	T	T	186333473	G	T	186333473	5	4	36	1	0	0	0	0	0	0	1	0	420	985	34	3	219	3	AHSG	3	186333473	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2445094	186333473	11688957	51	8629											
SST	6750	genome.wustl.edu	37	chr3	187388067	187388067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccagcgcgcactggaggcGgcaggacagcatctcggcgc	8	3	16	14	5	1	0	0	0	1	0	2	2	1	2	1	5	3	3	1	5	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr3:187388067G>A	ENST00000287641.3	-	1	120	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	5					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	CACTGGAGGCGGCAGGACAGC	0.667																																																	0													13	13	13					3																	187388067		2191	4290	6481	SO:0001583	missense	0				CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"Endogenous ligands"	11329	protein-coding gene	gene with protein product	"somatostatin-14", "somatostatin-28", "prepro-somatostatin"	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.13C>T	3.37:g.187388067G>A	ENSP00000287641:p.Arg5Cys		B2R5G3|P01166	Missense_Mutation	SNP	pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin	p.R5C	ENST00000287641.3	37	c.13	CCDS3288.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.077353	0.94000	.	.	ENSG00000157005	ENST00000287641	T	0.34072	1.38	5.48	5.48	0.80851	.	0.229124	0.44902	D	0.000414	T	0.57446	0.2054	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	P	0.57846	0.828	T	0.62139	-0.6917	10	0.87932	D	0	-9.1293	17.9406	0.89025	0.0:0.0:1.0:0.0	.	5	P61278	SMS_HUMAN	C	5	ENSP00000287641:R5C	ENSP00000287641:R5C	R	-	1	0	SST	188870761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.326000	0.79133	2.560000	0.86352	0.563000	0.77884	CGC	SST	-	pirsf_Somatostatin	ENSG00000157005		0.667	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SST	HGNC	protein_coding	OTTHUMT00000344278.1	-	0	28	0	G	NM_001048		187388067	-1	tier1	-	no_errors	ENST00000287641	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A	A	187388067	G	A	187388067	3	1	36	1	0	0	0	0	1	0	0	0	15243	1116	39	1	345	1	SST	3	187388067	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1054594	187388067	10634363	52	8630											
TMEM175	84286	genome.wustl.edu	37	chr4	941669	941669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccctgctgtccatcatcGccaccgtcatggtctgtacg	6	10	9	16	4	3	0	2	0	1	0	5	0	4	0	4	1	2	2	4	1	1	1	rs140262376		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:941669G>A	ENST00000264771.4	+	2	327	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	TMEM175_ENST00000508204.1_Intron|TMEM175_ENST00000515740.1_Intron	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	48						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTCCATCATCGCCACCGTCAT	0.667																																																	0								G	THR/ALA	0,4406		0,0,2203	59	58	59		142	5.4	1	4	dbSNP_134	59	2,8598	2.2+/-6.3	0,2,4298	no	missense	TMEM175	NM_032326.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	48/505	941669	2,13004	2203	4300	6503	SO:0001583	missense	0			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.142G>A	4.37:g.941669G>A	ENSP00000264771:p.Ala48Thr		D3DVN4|Q8ND13	Missense_Mutation	SNP	pfam_DUF1211_TMEM175	p.A48T	ENST00000264771.4	37	c.142	CCDS3341.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.114535	0.94339	0.0	2.33E-4	ENSG00000127419	ENST00000507319;ENST00000264771;ENST00000514453;ENST00000514546	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.66519	0.2797	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67518	-0.5650	10	0.54805	T	0.06	-0.332	14.7113	0.69235	0.0:0.0:1.0:0.0	.	48	Q9BSA9	TM175_HUMAN	T	48	ENSP00000424746:A48T;ENSP00000264771:A48T;ENSP00000425181:A48T;ENSP00000425763:A48T	ENSP00000264771:A48T	A	+	1	0	TMEM175	931669	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.867000	0.87062	2.539000	0.85634	0.650000	0.86243	GCC	TMEM175	-	pfam_DUF1211_TMEM175	ENSG00000127419		0.667	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM175	HGNC	protein_coding	OTTHUMT00000239193.2	-	0	78	0	G	NM_032326		941669	1	tier1	rs140262376	no_errors	ENST00000264771	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	A	A	941669	G	A	941669	3	1	36	1	0	0	0	0	1	0	0	0	16138	1087	38	1	144	1	TMEM175	4	941669	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		941669	190212607	53	8631											
CCDC96	257236	genome.wustl.edu	37	chr4	7043369	7043369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttggtcaccttgctgcGaagttttaaaagttcctcat	9	15	8	9	1	2	0	2	0	0	0	3	1	3	0	2	1	2	4	2	1	3	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:7043369G>T	ENST00000310085.4	-	1	1359	c.1297C>A	c.(1297-1299)Cgc>Agc	p.R433S	TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	433										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						ACCTTGCTGCGAAGTTTTAAA	0.443																																																	0													311	306	308					4																	7043369		2203	4300	6503	SO:0001583	missense	0			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1297C>A	4.37:g.7043369G>T	ENSP00000309285:p.Arg433Ser		Q8N2I7	Missense_Mutation	SNP	NULL	p.R433S	ENST00000310085.4	37	c.1297	CCDS3395.1	4	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223240	0.39300	.	.	ENSG00000173013	ENST00000310085	T	0.59772	0.24	3.55	3.55	0.40652	.	0.621077	0.14365	N	0.324189	T	0.73885	0.3644	M	0.83223	2.63	0.09310	N	1	D	0.63046	0.992	D	0.65987	0.94	T	0.62534	-0.6834	10	0.54805	T	0.06	-5.0508	9.9228	0.41474	0.0:0.0:0.6689:0.3311	.	433	Q2M329	CCD96_HUMAN	S	433	ENSP00000309285:R433S	ENSP00000309285:R433S	R	-	1	0	CCDC96	7094270	0.055000	0.20627	0.104000	0.21259	0.954000	0.61252	1.641000	0.37197	1.817000	0.53016	0.462000	0.41574	CGC	CCDC96	-	NULL	ENSG00000173013		0.443	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC96	HGNC	protein_coding	OTTHUMT00000246838.1	-	0	41	0	G	NM_153376		7043369	-1	tier1	-	no_errors	ENST00000310085	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.081	T	T	7043369	G	T	7043369	3	4	36	1	0	0	0	0	1	0	0	0	2881	1058	37	2	374	2	CCDC96	4	7043369	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	6101700	7043369	184110907	54	8632											
CC2D2A	57545	genome.wustl.edu	37	chr4	15529096	15529096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatacgttcacagtagtcaGcatgtgatcagatctggaga	14	10	10	7	1	4	3	3	1	1	2	4	4	4	3	0	1	2	3	0	1	3	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:15529096G>A	ENST00000503292.1	+	13	1356	c.1176G>A	c.(1174-1176)caG>caA	p.Q392Q	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Silent_p.Q392Q|CC2D2A_ENST00000424120.1_Silent_p.Q392Q|CC2D2A_ENST00000389652.5_Silent_p.Q343Q	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	392					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ACAGTAGTCAGCATGTGATCA	0.418																																																	0													88	85	86					4																	15529096		1894	4116	6010	SO:0001819	synonymous_variant	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.1176G>A	4.37:g.15529096G>A			A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	superfamily_C2_dom,smart_C2_dom	p.Q392	ENST00000503292.1	37	c.1176	CCDS47026.1	4																																																																																			CC2D2A	-	NULL	ENSG00000048342		0.418	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	-	0	99	0	G	NM_001080522		15529096	1	tier1	-	no_errors	ENST00000413206	ensembl	human	known	74_37	silent	28.40	58	23	SNP	1.000	A	A	15529096	G	A	15529096	2	1	36	1	0	0	0	0	0	0	0	1	2735	962	34	3		3	CC2D2A	4	15529096	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	8485727	15529096	175625180	55	8633											
CLRN2	645104	genome.wustl.edu	37	chr4	17524614	17524614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaacatgatccaggtcccGtaccgggcagtcagcggtcc	8	8	11	14	3	1	1	1	1	0	0	4	1	4	1	4	3	3	2	4	3	2	2	rs374029760		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:17524614G>A	ENST00000511148.2	+	2	483	c.381G>A	c.(379-381)ccG>ccA	p.P127P		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	127						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						TCCAGGTCCCGTACCGGGCAG	0.552																																																	0								G		0,4294		0,0,2147	60	65	63		381	-10.1	0	4		63	1,8537		0,1,4268	no	coding-synonymous	CLRN2	NM_001079827.2		0,1,6415	AA,AG,GG		0.0117,0.0,0.0078		127/233	17524614	1,12831	2147	4269	6416	SO:0001819	synonymous_variant	0				CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.381G>A	4.37:g.17524614G>A				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin	p.P127	ENST00000511148.2	37	c.381	CCDS47032.1	4																																																																																			CLRN2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000249581		0.552	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLRN2	HGNC	protein_coding	OTTHUMT00000359990.2	-	0	76	0	G	NM_001079827		17524614	1	tier1	-	no_errors	ENST00000511148	ensembl	human	known	74_37	silent	20.00	32	8	SNP	0.013	A	A	17524614	G	A	17524614	2	1	36	1	0	0	0	0	0	0	0	1	3565	1132	40	1		1	CLRN2	4	17524614	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1995518	17524614	173629662	56	8634											
WDR19	57728	genome.wustl.edu	37	chr4	39279751	39279751	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttaaacatcctgtttccagGgtcgacacatgttgaaagat	12	12	8	9	1	0	2	0	1	0	1	3	3	2	2	2	1	1	2	2	1	3	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:39279751G>T	ENST00000399820.3	+	35	3995	c.3841G>T	c.(3841-3843)Ggt>Tgt	p.G1281C	WDR19_ENST00000288634.7_Splice_Site_p.G1121C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1281					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						CTGTTTCCAGGGTCGACACAT	0.388																																																	0													78	71	73					4																	39279751		1901	4115	6016	SO:0001630	splice_region_variant	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.3841-1G>T	4.37:g.39279751G>T			B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G1281C	ENST00000399820.3	37	c.3841	CCDS47042.1	4	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366080	0.82463	.	.	ENSG00000157796	ENST00000399820;ENST00000288634	D;D	0.82984	-1.61;-1.67	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94133	0.7390	9	.	.	.	-22.5277	19.4662	0.94943	0.0:0.0:1.0:0.0	.	1281	Q8NEZ3	WDR19_HUMAN	C	1281;1121	ENSP00000382717:G1281C;ENSP00000288634:G1121C	.	G	+	1	0	WDR19	38956146	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.320000	0.96346	2.616000	0.88540	0.491000	0.48974	GGT	WDR19	-	NULL	ENSG00000157796		0.388	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1	-	0	69	0	G		Missense_Mutation	39279751	1	tier1	-	no_errors	ENST00000399820	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	39279751	G	T	39279751	5	4	36	1	0	0	0	0	0	0	1	0	17328	1246	43	3	3979	3	WDR19	4	39279751	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	21755137	39279751	151874525	57	8635											
GRID2	2895	genome.wustl.edu	37	chr4	94693643	94693643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagaccgaggcacctcCatatgagcatcaaacaaatc	15	6	7	13	1	1	2	1	1	0	1	4	4	3	2	4	1	2	2	4	1	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:94693643C>A	ENST00000282020.4	+	16	3276	c.3018C>A	c.(3016-3018)tcC>tcA	p.S1006S	GRID2_ENST00000510992.1_Silent_p.S911S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	1006					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S1006*(1)|p.S1006S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GAGGCACCTCCATATGAGCAT	0.413																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	lung(2)											54	52	53					4																	94693643		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.3018C>A	4.37:g.94693643C>A			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S1006	ENST00000282020.4	37	c.3018	CCDS3637.1	4																																																																																			GRID2	-	NULL	ENSG00000152208		0.413	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2		0	40	0	C			94693643	1			no_errors	ENST00000282020	ensembl	human	known	74_37	silent	8.33	33	3	SNP	1.000	A	A	94693643	C	A	94693643	2	1	36	1	0	0	0	0	0	0	0	1	6799	581	21	3		3	GRID2	4	94693643	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	55413892	94693643	96460633	58	8636											
PRDM5	11107	genome.wustl.edu	37	chr4	121737990	121737990	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcagacacaaaacctcGatgctgaactgaaggaagaa	18	6	8	9	1	1	4	1	2	0	2	2	6	1	5	1	1	4	1	1	1	7	1	rs187637689		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:121737990G>T	ENST00000264808.3	-	6	980	c.740C>A	c.(739-741)tCg>tAg	p.S247*	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Intron	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	247					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAAAACCTCGATGCTGAACT	0.388																																																	0													181	187	185					4																	121737990		2203	4300	6503	SO:0001587	stop_gained	0			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.740C>A	4.37:g.121737990G>T	ENSP00000264808:p.Ser247*		Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.S247*	ENST00000264808.3	37	c.740	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264416	0.80358	.	.	ENSG00000138738	ENST00000264808	.	.	.	5.85	2.91	0.33838	.	0.323249	0.33290	N	0.005064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4286	0.27113	0.3929:0.0:0.6071:0.0	.	.	.	.	X	247	.	ENSP00000264808:S247X	S	-	2	0	PRDM5	121957440	0.999000	0.42202	0.057000	0.19452	0.986000	0.74619	1.198000	0.32223	0.252000	0.21531	-0.345000	0.07892	TCG	PRDM5	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2	ENSG00000138738		0.388	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2		0	66	0	G			121737990	-1			no_errors	ENST00000264808	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	0.993	T	T	121737990	G	T	121737990	4	4	36	1	0	0	0	0	0	1	0	0	12502	1059	37	2	1196	2	PRDM5	4	121737990	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	27044347	121737990	69416286	59	8637											
CCNA2	890	genome.wustl.edu	37	chr4	122744749	122744749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgccgagcccgcctcgCgggtcgcaggccccggcgca	4	2	16	19	8	0	0	0	0	0	0	2	1	0	0	5	3	2	3	5	3	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:122744749C>T	ENST00000274026.5	-	1	338	c.35G>A	c.(34-36)cGc>cAc	p.R12H		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	12					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						GCCCGCCTCGCGGGTCGCAGG	0.687																																																	0													7	11	9					4																	122744749		2066	4207	6273	SO:0001583	missense	0				CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.35G>A	4.37:g.122744749C>T	ENSP00000274026:p.Arg12His		A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.R12H	ENST00000274026.5	37	c.35	CCDS3723.1	4	.	.	.	.	.	.	.	.	.	.	C	16.84	3.235084	0.58886	.	.	ENSG00000145386	ENST00000274026	T	0.18502	2.21	4.52	2.49	0.30216	.	1.304800	0.05020	N	0.472584	T	0.16769	0.0403	L	0.47716	1.5	0.30705	N	0.749857	B	0.10296	0.003	B	0.04013	0.001	T	0.27054	-1.0085	10	0.34782	T	0.22	.	5.7589	0.18188	0.1803:0.6928:0.0:0.1268	.	12	P20248	CCNA2_HUMAN	H	12	ENSP00000274026:R12H	ENSP00000274026:R12H	R	-	2	0	CCNA2	122964199	1.000000	0.71417	0.998000	0.56505	0.144000	0.21451	1.115000	0.31209	0.457000	0.26962	-0.182000	0.12963	CGC	CCNA2	-	pirsf_Cyclin_A/B/D/E	ENSG00000145386		0.687	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNA2	HGNC	protein_coding	OTTHUMT00000256712.2	-	0	29	0	C	NM_001237		122744749	-1	tier1	-	no_errors	ENST00000274026	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	122744749	C	T	122744749	3	4	36	1	0	0	0	0	1	0	0	0	2917	768	27	1	1295	1	CCNA2	4	122744749	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1006759	122744749	68409527	60	8638											
KIAA1109	84162	genome.wustl.edu	37	chr4	123270345	123270345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgaagagccagggccGtctgtcagtaggaagtaatc	10	10	14	7	1	2	2	1	1	1	1	3	3	2	3	2	3	1	3	2	3	4	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:123270345G>A	ENST00000264501.4	+	78	13686	c.13313G>A	c.(13312-13314)cGt>cAt	p.R4438H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4438H			Q2LD37	K1109_HUMAN	KIAA1109	4438					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R4438H(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCCAGGGCCGTCTGTCAGTA	0.383																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											121	123	123					4																	123270345		1853	4077	5930	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13313G>A	4.37:g.123270345G>A	ENSP00000264501:p.Arg4438His		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.R4438H	ENST00000264501.4	37	c.13313	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.718733|4.718733	0.89205|0.89205	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.51817|.	0.69;0.69;0.69|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Fragile site-associated protein, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73289|0.73289	0.3568|0.3568	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.994;0.998|.	T|T	0.69030|0.69030	-0.5253|-0.5253	10|5	0.49607|.	T|.	0.09|.	.|.	19.9522|19.9522	0.97203|0.97203	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4437;4438|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	H|I	4438;4438;1107;39|814	ENSP00000264501:R4438H;ENSP00000373390:R4438H;ENSP00000410874:R1107H|.	ENSP00000264501:R4438H|.	R|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123489795|123489795	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.995000|0.995000	0.86356|0.86356	8.013000|8.013000	0.88655|0.88655	2.725000|2.725000	0.93324|0.93324	0.655000|0.655000	0.94253|0.94253	CGT|GTC	KIAA1109	-	pfam_Fragile_site-assoc_C	ENSG00000138688		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1		0	60	0	G	NM_020797		123270345	1			no_errors	ENST00000264501	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	123270345	G	A	123270345	3	1	36	1	0	0	0	0	1	0	0	0	8235	1145	40	1	13615	1	KIAA1109	4	123270345	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	525596	123270345	67883931	61	8639											
RPS3A	6189	genome.wustl.edu	37	chr4	152020849	152020849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacgaaaggcggcaaaaaGggagccaagaagaaagtgta	18	4	13	6	2	0	2	0	0	0	2	0	4	0	3	1	3	2	2	1	3	8	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:152020849G>A	ENST00000274065.4	+	1	125	c.45G>A	c.(43-45)aaG>aaA	p.K15K	RPS3A_ENST00000322686.6_Intron|SNORD73_ENST00000364394.1_RNA|RPS3A_ENST00000514682.1_5'UTR|RPS3A_ENST00000509736.1_5'UTR|RPS3A_ENST00000506126.1_5'UTR|RPS3A_ENST00000512690.1_Silent_p.K15K	NM_001006.4	NP_000997.1			ribosomal protein S3A											endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GCGGCAAAAAGGGAGCCAAGA	0.597											OREG0016360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66	68	67					4																	152020849		2203	4300	6503	SO:0001819	synonymous_variant	0			X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"S ribosomal proteins"	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000274065.4:c.45G>A	4.37:g.152020849G>A		1744		Silent	SNP	pfam_Ribosomal_S3Ae	p.K15	ENST00000274065.4	37	c.45	CCDS3775.1	4																																																																																			RPS3A	-	pfam_Ribosomal_S3Ae	ENSG00000145425		0.597	RPS3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS3A	HGNC	protein_coding	OTTHUMT00000364957.1	-	0	90	0	G			152020849	1	tier1	-	no_errors	ENST00000274065	ensembl	human	known	74_37	silent	22.86	54	16	SNP	1.000	A	A	152020849	G	A	152020849	2	1	36	1	0	0	0	0	0	0	0	1	13689	991	35	3		3	RPS3A	4	152020849	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	28750504	152020849	39133427	62	8640											
RBM46	166863	genome.wustl.edu	37	chr4	155749035	155749035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagactacaatttccatcGcagctcaataaatagtcttt	14	13	4	10	1	2	1	1	0	1	1	4	1	3	1	1	0	3	2	1	0	7	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr4:155749035G>T	ENST00000281722.3	+	5	1653	c.1418G>T	c.(1417-1419)cGc>cTc	p.R473L	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	473							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AATTTCCATCGCAGCTCAATA	0.363																																																	0													154	160	158					4																	155749035		2203	4300	6503	SO:0001583	missense	0			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1418G>T	4.37:g.155749035G>T	ENSP00000281722:p.Arg473Leu		B3KWU8|B4DZ27	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.R473L	ENST00000281722.3	37	c.1418	CCDS3790.1	4	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592387	0.28357	.	.	ENSG00000151962	ENST00000281722	T	0.15952	2.38	5.43	5.43	0.79202	.	0.181348	0.37012	N	0.002292	T	0.06917	0.0176	N	0.02011	-0.69	0.80722	D	1	B	0.13145	0.007	B	0.15484	0.013	T	0.24764	-1.0151	10	0.45353	T	0.12	-0.2019	9.5518	0.39315	0.0768:0.1446:0.7786:0.0	.	473	Q8TBY0	RBM46_HUMAN	L	473	ENSP00000281722:R473L	ENSP00000281722:R473L	R	+	2	0	RBM46	155968485	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.986000	0.40677	2.721000	0.93114	0.655000	0.94253	CGC	RBM46	-	NULL	ENSG00000151962		0.363	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1		0	41	0	G	NM_144979		155749035	1			no_errors	ENST00000281722	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	155749035	G	T	155749035	3	4	36	1	0	0	0	0	1	0	0	0	13185	1087	38	2	1432	2	RBM46	4	155749035	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3728186	155749035	35405241	63	8641											
NPR3	4883	genome.wustl.edu	37	chr5	32711915	32711915	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctcactttctccccGtgcgtactactcggctgggc	3	12	11	15	3	2	0	1	0	1	0	4	0	2	0	2	3	4	3	2	3	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:32711915G>T	ENST00000265074.8	+	1	376	c.33G>T	c.(31-33)ccG>ccT	p.P11P	NPR3_ENST00000415167.2_Silent_p.P11P|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	11					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTTTCTCCCCGTGCGTACTAC	0.726																																																	0													3	4	3					5																	32711915		1464	2897	4361	SO:0001819	synonymous_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.33G>T	5.37:g.32711915G>T			A2RRD1|B4DT84|E7EPG9	Silent	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.P11	ENST00000265074.8	37	c.33	CCDS56357.1	5																																																																																			NPR3	-	NULL	ENSG00000113389		0.726	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	-	0	61	0	G	NM_000908		32711915	1	tier1	-	no_errors	ENST00000265074	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.951	T	T	32711915	G	T	32711915	2	4	36	1	0	0	0	0	0	0	0	1	10635	1132	40	2		2	NPR3	5	32711915	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		32711915	148203345	64	8642											
IL7R	3575	genome.wustl.edu	37	chr5	35873732	35873732	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattacttcagaactccaGagatcaataatagctcaggt	14	12	7	8	0	3	2	3	0	0	2	4	3	4	2	1	1	3	2	1	1	6	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:35873732G>T	ENST00000303115.3	+	5	817	c.688G>T	c.(688-690)Gag>Tag	p.E230*	IL7R_ENST00000343305.4_Nonsense_Mutation_p.E230*|IL7R_ENST00000506850.1_Nonsense_Mutation_p.E230*	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	230	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAGAACTCCAGAGATCAATAA	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency																																	Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	0													103	98	99					5																	35873732		2203	4300	6503	SO:0001587	stop_gained	0			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.688G>T	5.37:g.35873732G>T	ENSP00000306157:p.Glu230*		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3	p.E230*	ENST00000303115.3	37	c.688	CCDS3911.1	5	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581711	0.65992	.	.	ENSG00000168685	ENST00000303115;ENST00000343305;ENST00000506850;ENST00000505093	.	.	.	6.03	4.23	0.50019	.	1.364320	0.04385	N	0.361508	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-14.0912	7.6617	0.28407	0.0847:0.1661:0.7492:0.0	.	.	.	.	X	230;230;230;33	.	ENSP00000306157:E230X	E	+	1	0	IL7R	35909489	0.862000	0.29867	0.497000	0.27552	0.008000	0.06430	2.620000	0.46410	1.533000	0.49186	-0.176000	0.13171	GAG	IL7R	-	superfamily_Fibronectin_type3	ENSG00000168685		0.423	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7R	HGNC	protein_coding	OTTHUMT00000207577.2		0	48	0	G			35873732	1			no_errors	ENST00000303115	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	0.808	T	T	35873732	G	T	35873732	4	4	36	1	0	0	0	0	0	1	0	0	7732	943	33	3	706	3	IL7R	5	35873732	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3161817	35873732	145041528	65	8643											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41058239	41058239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcccagggcgtatcCacggaagtcttcccgatgca	8	7	11	15	3	1	0	0	0	1	0	3	2	3	1	4	3	1	2	4	3	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:41058239C>T	ENST00000399564.4	-	7	1132	c.682G>A	c.(682-684)Gga>Aga	p.G228R	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	228								p.G228*(1)									AGGGCGTATCCACGGAAGTCT	0.517																																																	1	Substitution - Nonsense(1)	endometrium(1)											76	74	75					5																	41058239		1921	4124	6045	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.682G>A	5.37:g.41058239C>T	ENSP00000382476:p.Gly228Arg		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G228R	ENST00000399564.4	37	c.682	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702985	0.30232	.	.	ENSG00000171495	ENST00000399564	T	0.08807	3.05	5.27	5.27	0.74061	Armadillo-type fold (1);	0.237344	0.29668	N	0.011514	T	0.05823	0.0152	N	0.08118	0	0.18873	N	0.999981	B	0.18968	0.032	B	0.21917	0.037	T	0.34650	-0.9820	10	0.56958	D	0.05	.	14.2725	0.66159	0.0:1.0:0.0:0.0	.	228	Q7Z745	HTRB2_HUMAN	R	228	ENSP00000382476:G228R	ENSP00000382476:G228R	G	-	1	0	HEATR7B2	41093996	0.459000	0.25768	0.535000	0.28026	0.029000	0.11900	2.256000	0.43231	2.732000	0.93576	0.650000	0.86243	GGA	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.517	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2		0	70	0	C	NM_173489		41058239	-1			no_errors	ENST00000399564	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.364	T	T	41058239	C	T	41058239	3	4	36	1	0	0	0	0	1	0	0	0	7062	603	21	3	4219	3	HEATR7B2	5	41058239	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	5184507	41058239	139857021	66	8644											
ZNF131	7690	genome.wustl.edu	37	chr5	43173515	43173515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgccaaactggagtagggGcaaaaaaaggaaggaagaag	19	3	14	5	0	0	1	0	0	0	1	0	4	0	4	1	5	2	2	1	5	8	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:43173515G>A	ENST00000399534.1	+	6	1194	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	ZNF131_ENST00000509634.1_Missense_Mutation_p.A350T|ZNF131_ENST00000509156.1_Missense_Mutation_p.A384T|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.A350T|ZNF131_ENST00000505606.2_Missense_Mutation_p.A350T			P52739	ZN131_HUMAN	zinc finger protein 131	384					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGGAGTAGGGGCAAAAAAAGG	0.398																																																	0													71	68	69					5																	43173515		1893	4140	6033	SO:0001583	missense	0			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"Zinc fingers, C2H2-type", "-", "BTB/POZ domain containing"	12915	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 35"	604073	"zinc finger protein 131 (clone pHZ-10)"				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1150G>A	5.37:g.43173515G>A	ENSP00000382450:p.Ala384Thr		B4DRL3|Q6PIF0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A384T	ENST00000399534.1	37	c.1150		5	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044463	0.93685	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	5.54	5.54	0.83059	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.13272	0.32	0.58432	D	0.999999	D;D	0.89917	0.997;1.0	D;D	0.87578	0.989;0.998	T	0.10800	-1.0614	10	0.48119	T	0.1	-9.5757	19.4927	0.95059	0.0:0.0:1.0:0.0	.	384;350	P52739;P52739-2	ZN131_HUMAN;.	T	384;350;384;350;350	ENSP00000426504:A384T;ENSP00000305804:A350T;ENSP00000382450:A384T;ENSP00000423945:A350T;ENSP00000421246:A350T	ENSP00000305804:A350T	A	+	1	0	ZNF131	43209272	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.471000	0.80985	2.611000	0.88343	0.557000	0.71058	GCA	ZNF131	-	pfscan_Znf_C2H2	ENSG00000172262		0.398	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1		0	54	0	G	NM_003432		43173515	1			no_errors	ENST00000399534	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	43173515	G	A	43173515	3	1	36	1	0	0	0	0	1	0	0	0	17769	1203	42	3	1070	3	ZNF131	5	43173515	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2115276	43173515	137741745	67	8645											
SNX18	112574	genome.wustl.edu	37	chr5	53839223	53839223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttccaaaaagttacccaGaagttggaagaagctcttca	14	12	7	8	0	2	2	1	0	1	2	3	3	3	3	2	1	2	3	2	1	6	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:53839223G>A	ENST00000381410.4	+	2	2026	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	465	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AAGTTACCCAGAAGTTGGAAG	0.333																																																	0													54	53	53					5																	53839223		1813	4079	5892	SO:0001819	synonymous_variant	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000381410.4:c.1836G>A	5.37:g.53839223G>A			B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.Q612	ENST00000381410.4	37	c.1836	CCDS43317.1	5																																																																																			SNX18	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000178996		0.333	SNX18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214073.2		0	89	0	G			53839223	1			no_errors	ENST00000381410	ensembl	human	known	74_37	silent	6.52	43	3	SNP	1.000	A	A	53839223	G	A	53839223	2	1	36	1	0	0	0	0	0	0	0	1	14934	933	33	3		3	SNX18	5	53839223	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	10665708	53839223	127076037	68	8646											
F2R	2149	genome.wustl.edu	37	chr5	76029016	76029016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttttctgcatcttCatcatttgcttcggacccac	5	16	7	13	1	4	0	2	0	2	0	5	1	4	1	1	1	3	5	1	1	0	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:76029016C>A	ENST00000319211.4	+	2	1231	c.966C>A	c.(964-966)ttC>ttA	p.F322L		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	322					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTGCATCTTCATCATTTGCT	0.498																																																	0													157	127	137					5																	76029016		2203	4300	6503	SO:0001583	missense	0			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.966C>A	5.37:g.76029016C>A	ENSP00000321326:p.Phe322Leu		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.F322L	ENST00000319211.4	37	c.966	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721942	0.68959	.	.	ENSG00000181104	ENST00000319211	T	0.56611	0.45	4.7	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70649	0.3248	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69709	-0.5072	10	0.72032	D	0.01	-47.9381	5.635	0.17532	0.0:0.4454:0.0:0.5546	.	322	P25116	PAR1_HUMAN	L	322	ENSP00000321326:F322L	ENSP00000321326:F322L	F	+	3	2	F2R	76064772	0.978000	0.34361	0.632000	0.29296	0.879000	0.50718	0.656000	0.24948	0.645000	0.30675	0.561000	0.74099	TTC	F2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	ENSG00000181104		0.498	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	-	0	51	0	C			76029016	1	tier1	-	no_errors	ENST00000319211	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.983	A	A	76029016	C	A	76029016	3	1	36	1	0	0	0	0	1	0	0	0	5359	825	29	3	972	3	F2R	5	76029016	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	22189793	76029016	104886244	69	8647											
APC	324	genome.wustl.edu	37	chr5	112179573	112179573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatagtggaacgtacccCattcagttctagcagctcaa	11	12	7	11	1	4	0	2	0	2	0	4	1	4	1	2	1	4	4	2	1	6	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:112179573C>A	ENST00000457016.1	+	16	8662	c.8282C>A	c.(8281-8283)cCa>cAa	p.P2761Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P2761Q|APC_ENST00000508376.2_Missense_Mutation_p.P2761Q			P25054	APC_HUMAN	adenomatous polyposis coli	2761	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P2761L(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAACGTACCCCATTCAGTTCT	0.453		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)											73	74	73					5																	112179573		2202	4299	6501	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.8282C>A	5.37:g.112179573C>A	ENSP00000413133:p.Pro2761Gln		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P2761Q	ENST00000457016.1	37	c.8282	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020178	0.54576	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.78126	-1.15;-1.15;-1.15	5.92	5.92	0.95590	EB-1 binding (1);	0.000000	0.85682	D	0.000000	T	0.71854	0.3389	L	0.29908	0.895	0.80722	D	1	P;P	0.41643	0.758;0.758	B;B	0.41374	0.355;0.355	T	0.68667	-0.5348	9	.	.	.	-16.8033	20.3248	0.98698	0.0:1.0:0.0:0.0	.	2763;2761	Q4LE70;P25054	.;APC_HUMAN	Q	2761	ENSP00000413133:P2761Q;ENSP00000257430:P2761Q;ENSP00000427089:P2761Q	.	P	+	2	0	APC	112207472	1.000000	0.71417	0.973000	0.42090	0.946000	0.59487	6.453000	0.73488	2.818000	0.97014	0.655000	0.94253	CCA	APC	-	pfam_EB1-bd	ENSG00000134982		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	56	0	C	NM_000038		112179573	1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	112179573	C	A	112179573	3	1	36	1	0	0	0	0	1	0	0	0	763	594	21	3	8340	3	APC	5	112179573	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	36150557	112179573	68735687	70	8648											
PCDHB2	56133	genome.wustl.edu	37	chr5	140475148	140475148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcccggaggacagcccCgttggatcccaggttgccat	8	7	12	14	2	0	1	0	0	0	1	2	4	2	4	5	4	2	2	5	4	0	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:140475148C>T	ENST00000194155.4	+	1	922	c.774C>T	c.(772-774)ccC>ccT	p.P258P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACAGCCCCGTTGGATCCC	0.507																																																	0													63	64	63					5																	140475148		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.774C>T	5.37:g.140475148C>T			Q4KMU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P258	ENST00000194155.4	37	c.774	CCDS4244.1	5																																																																																			PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000112852		0.507	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	-	0	58	0	C	NM_018936		140475148	1	tier1	-	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.000	T	T	140475148	C	T	140475148	2	4	36	1	0	0	0	0	0	0	0	1	11581	639	23	1		1	PCDHB2	5	140475148	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	28295575	140475148	40440112	71	8649											
SH3TC2	79628	genome.wustl.edu	37	chr5	148407138	148407138	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaagccaaggagcttGgttgtgttctggaggacaag	12	8	16	5	0	1	0	0	0	1	0	1	5	1	4	1	5	2	3	1	5	4	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:148407138G>T	ENST00000515425.1	-	11	2258	c.2157C>A	c.(2155-2157)acC>acA	p.T719T	SH3TC2_ENST00000538184.1_Silent_p.T266T|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Silent_p.T604T|SH3TC2_ENST00000512049.1_Silent_p.T712T	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	719					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGAGCTTGGTTGTGTTCT	0.572																																																	0													88	90	90					5																	148407138		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2157C>A	5.37:g.148407138G>T			B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.T719	ENST00000515425.1	37	c.2157	CCDS4293.1	5																																																																																			SH3TC2	-	NULL	ENSG00000169247		0.572	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	-	0	112	0	G	NM_024577		148407138	-1	tier1	-	no_errors	ENST00000515425	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.024	T	T	148407138	G	T	148407138	2	4	36	1	0	0	0	0	0	0	0	1	14307	1335	47	3		3	SH3TC2	5	148407138	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	7931990	148407138	32508122	72	8650											
TCOF1	6949	genome.wustl.edu	37	chr5	149754266	149754266	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggagctgccccagcgccCcctgggaagacagggcctgc	9	3	14	15	1	0	1	0	0	0	1	0	3	0	3	5	3	4	1	5	3	2	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:149754266C>A	ENST00000504761.2	+	9	1170	c.1170C>A	c.(1168-1170)ccC>ccA	p.P390P	TCOF1_ENST00000377797.3_Silent_p.P390P|TCOF1_ENST00000451292.1_Silent_p.P390P|TCOF1_ENST00000394269.3_Silent_p.P390P|TCOF1_ENST00000323668.7_Silent_p.P313P|TCOF1_ENST00000445265.2_Silent_p.P313P|TCOF1_ENST00000439160.2_Silent_p.P390P|TCOF1_ENST00000513346.1_Silent_p.P390P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	390					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGCGCCCCCTGGGAAGA	0.657																																																	0													35	43	40					5																	149754266		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1170C>A	5.37:g.149754266C>A			A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.P390	ENST00000504761.2	37	c.1170	CCDS54936.1	5																																																																																			TCOF1	-	pfam_TCS_treacle	ENSG00000070814		0.657	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	-	0	86	0	C	NM_001008656		149754266	1	tier1	-	no_errors	ENST00000451292	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.405	A	A	149754266	C	A	149754266	2	1	36	1	0	0	0	0	0	0	0	1	15755	610	22	3		3	TCOF1	5	149754266	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1347128	149754266	31160994	73	8651											
FAT2	2196	genome.wustl.edu	37	chr5	150946027	150946027	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttaactggtacccaccGggaggaaatctgggtgcgtt	9	10	14	8	2	1	0	0	0	1	0	1	2	1	2	2	5	3	3	2	5	3	3	rs141641920		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:150946027G>T	ENST00000261800.5	-	1	2478	c.2466C>A	c.(2464-2466)ccC>ccA	p.P822P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	822	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P822P(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTACCCACCGGGAGGAAATC	0.507																																																	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											108	103	105					5																	150946027		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2466C>A	5.37:g.150946027G>T			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P822	ENST00000261800.5	37	c.2466	CCDS4317.1	5																																																																																			FAT2	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000086570		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0	67	0	G	NM_001447		150946027	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.962	T	T	150946027	G	T	150946027	2	4	36	1	0	0	0	0	0	0	0	1	5712	1103	39	2		2	FAT2	5	150946027	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1191761	150946027	29969233	74	8652											
ZNF354C	30832	genome.wustl.edu	37	chr5	178507022	178507022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctataagtggaaggaatatgGgaaacctttcatctgcagct	13	11	10	7	0	2	0	1	0	1	0	2	3	2	3	1	3	3	2	1	3	6	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:178507022G>T	ENST00000315475.6	+	5	1895	c.1589G>T	c.(1588-1590)gGg>gTg	p.G530V		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AAGGAATATGGGAAACCTTTC	0.373																																																	0													89	93	92					5																	178507022		2203	4300	6503	SO:0001583	missense	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1589G>T	5.37:g.178507022G>T	ENSP00000324064:p.Gly530Val		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G530V	ENST00000315475.6	37	c.1589	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355657	0.41700	.	.	ENSG00000177932	ENST00000315475	T	0.66460	-0.21	4.22	2.31	0.28768	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68302	0.2986	M	0.93462	3.42	0.53005	D	0.999963	P	0.39737	0.685	B	0.35413	0.202	T	0.71955	-0.4436	9	0.87932	D	0	-6.3207	4.9418	0.13969	0.2962:0.0:0.7038:0.0	.	530	Q86Y25	Z354C_HUMAN	V	530	ENSP00000324064:G530V	ENSP00000324064:G530V	G	+	2	0	ZNF354C	178439628	1.000000	0.71417	0.932000	0.37286	0.856000	0.48823	2.511000	0.45476	1.022000	0.39626	0.591000	0.81541	GGG	ZNF354C	-	NULL	ENSG00000177932		0.373	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	-	0	61	0	G			178507022	1	tier1	-	no_errors	ENST00000315475	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.994	T	T	178507022	G	T	178507022	3	4	36	1	0	0	0	0	1	0	0	0	17914	1232	43	3	1603	3	ZNF354C	5	178507022	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	27560995	178507022	2408238	75	8653											
TRIM7	81786	genome.wustl.edu	37	chr5	180630635	180630635	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcagcctggactccaaGagctcctgtagatgaaggga	11	7	11	12	0	1	3	1	1	0	2	3	5	3	5	4	2	2	2	4	2	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr5:180630635G>T	ENST00000274773.7	-	2	589	c.528C>A	c.(526-528)ctC>ctA	p.L176L	CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000422067.2_5'UTR|CTC-338M12.1_ENST00000503314.1_RNA|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000393319.3_5'Flank|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_5'UTR|TRIM7_ENST00000393315.1_5'UTR|TRIM7_ENST00000334421.5_Silent_p.L176L	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	176						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGACTCCAAGAGCTCCTGTA	0.577																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													61	62	62					5																	180630635		2203	4300	6503	SO:0001819	synonymous_variant	0			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16278	protein-coding gene	gene with protein product	"glycogenin-interacting protein", "tripartite motif protein TRIM7"	609315	"tripartite motif-containing 7"			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.528C>A	5.37:g.180630635G>T			A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.L176	ENST00000274773.7	37	c.528	CCDS4462.1	5																																																																																			TRIM7	-	NULL	ENSG00000146054		0.577	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3		0	14	0	G	NM_203296		180630635	-1			no_errors	ENST00000274773	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.872	T	T	180630635	G	T	180630635	2	4	36	1	0	0	0	0	0	0	0	1	16591	929	33	3		3	TRIM7	5	180630635	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2123613	180630635	284625	76	8654											
HIVEP1	3096	genome.wustl.edu	37	chr6	12161695	12161695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaacagagattcagttatGagcgatctggatatgatctt	15	12	9	5	1	3	3	1	2	2	1	3	6	3	4	0	1	2	1	0	1	4	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:12161695G>A	ENST00000379388.2	+	8	6843	c.6511G>A	c.(6511-6513)Gag>Aag	p.E2171K	HIVEP1_ENST00000541134.1_Missense_Mutation_p.E36K	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2171					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E2171Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTCAGTTATGAGCGATCTGG	0.383																																																	1	Substitution - Missense(1)	lung(1)											86	93	91					6																	12161695		1943	4144	6087	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6511G>A	6.37:g.12161695G>A	ENSP00000368698:p.Glu2171Lys		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E2171K	ENST00000379388.2	37	c.6511	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	30	5.052354	0.93793	.	.	ENSG00000095951	ENST00000379388;ENST00000442081;ENST00000541134;ENST00000542327	T;T	0.30981	2.89;1.51	5.77	5.77	0.91146	.	0.000000	0.35013	N	0.003517	T	0.42921	0.1224	M	0.84433	2.695	0.53688	D	0.999971	D	0.54964	0.969	P	0.50490	0.642	T	0.40040	-0.9584	10	0.36615	T	0.2	-26.7108	19.9827	0.97334	0.0:0.0:1.0:0.0	.	2171	P15822	ZEP1_HUMAN	K	2171;98;36;153	ENSP00000368698:E2171K;ENSP00000445617:E36K	ENSP00000368698:E2171K	E	+	1	0	HIVEP1	12269681	1.000000	0.71417	0.956000	0.39512	0.574000	0.36063	4.764000	0.62264	2.728000	0.93425	0.655000	0.94253	GAG	HIVEP1	-	NULL	ENSG00000095951		0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2		0	38	0	G	NM_002114		12161695	1			no_errors	ENST00000379388	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	12161695	G	A	12161695	3	1	36	1	0	0	0	0	1	0	0	0	7213	1291	45	3	6537	3	HIVEP1	6	12161695	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		12161695	158953372	77	8655											
KIF13A	63971	genome.wustl.edu	37	chr6	17783895	17783895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattcaaatcgaggaagaGaactggtatgtgggtttcca	13	10	11	7	1	1	1	1	0	0	1	3	4	2	2	2	3	1	2	2	3	4	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:17783895G>T	ENST00000259711.6	-	29	3631	c.3526C>A	c.(3526-3528)Ctc>Atc	p.L1176I	KIF13A_ENST00000378814.5_Missense_Mutation_p.L1163I|KIF13A_ENST00000378826.2_Missense_Mutation_p.L1176I|KIF13A_ENST00000378843.2_Missense_Mutation_p.L1163I|KIF13A_ENST00000378816.5_Missense_Mutation_p.L1176I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1176					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCGAGGAAGAGAACTGGTATG	0.318																																																	0													73	71	72					6																	17783895		1819	4070	5889	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3526C>A	6.37:g.17783895G>T	ENSP00000259711:p.Leu1176Ile		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1176I	ENST00000259711.6	37	c.3526	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.085874|3.085874	0.55861|0.55861	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|T;T;T;T;T;T	.|0.73681	.|-0.65;1.59;-0.77;-0.65;-0.65;-0.65	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64472|0.64472	0.2601|0.2601	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	.|B;D;B;P	.|0.57571	.|0.234;0.98;0.276;0.907	.|B;P;P;P	.|0.49047	.|0.421;0.599;0.557;0.514	T|T	0.60845|0.60845	-0.7182|-0.7182	5|10	.|0.20046	.|T	.|0.44	.|.	19.3733|19.3733	0.94498|0.94498	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1163;1176;1176;1163	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	L|I	569|1163;180;1176;1176;1163;1176;174	.|ENSP00000368091:L1163I;ENSP00000425616:L180I;ENSP00000259711:L1176I;ENSP00000368103:L1176I;ENSP00000368120:L1163I;ENSP00000368093:L1176I	.|ENSP00000259711:L1176I	F|L	-|-	3|1	2|0	KIF13A|KIF13A	17891874|17891874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.547000|5.547000	0.67249|0.67249	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	TTC|CTC	KIF13A	-	pfam_Kinesin-like	ENSG00000137177		0.318	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	-	0	60	0	G			17783895	-1	tier1	-	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	17783895	G	T	17783895	3	4	36	1	0	0	0	0	1	0	0	0	8301	942	33	3	1960	3	KIF13A	6	17783895	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	5622200	17783895	153331172	78	8656											
KDM1B	221656	genome.wustl.edu	37	chr6	18218058	18218058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgaagacaggtggaagtgGggaggcctacgatatcattg	11	9	16	5	1	1	2	1	1	0	1	1	5	1	4	1	5	1	0	1	5	4	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:18218058G>T	ENST00000297792.5	+	17	1808	c.1631G>T	c.(1630-1632)gGg>gTg	p.G544V	KDM1B_ENST00000388870.2_Missense_Mutation_p.G777V|KDM1B_ENST00000397244.1_Missense_Mutation_p.G545V|KDM1B_ENST00000546309.2_Missense_Mutation_p.G67V			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	776					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGTGGAAGTGGGGAGGCCTAC	0.448																																																	0													229	190	203					6																	18218058		2203	4300	6503	SO:0001583	missense	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1631G>T	6.37:g.18218058G>T	ENSP00000297792:p.Gly544Val		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.G777V	ENST00000297792.5	37	c.2330	CCDS34343.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.801019|4.801019	0.90538|0.90538	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	T;D;D;D|D	0.93133|0.93488	2.92;-3.17;-3.17;-3.17|-3.23	5.85|5.85	5.85|5.85	0.93711|0.93711	Amine oxidase (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96815|0.96815	0.8960|0.8960	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;1.0|.	D;D;D|.	0.97110|.	0.985;0.993;1.0|.	D|D	0.96627|0.96627	0.9464|0.9464	10|8	0.72032|0.72032	D|D	0.01|0.01	-16.6217|-16.6217	20.1577|20.1577	0.98120|0.98120	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	593;776;544|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	V|W	67;777;545;544;774|594	ENSP00000442670:G67V;ENSP00000373522:G777V;ENSP00000380419:G545V;ENSP00000297792:G544V|ENSP00000405669:G594W	ENSP00000297792:G544V|ENSP00000405669:G594W	G|G	+|+	2|1	0|0	KDM1B|KDM1B	18326037|18326037	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.823000|0.823000	0.46562|0.46562	8.004000|8.004000	0.88535|0.88535	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GGG|GGG	KDM1B	-	pfam_Amino_oxidase	ENSG00000165097		0.448	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	-	0	97	0	G	NM_153042		18218058	1	tier1	-	no_errors	ENST00000388870	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	18218058	G	T	18218058	3	4	36	1	0	0	0	0	1	0	0	0	8150	1232	43	3	1689	3	KDM1B	6	18218058	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	434163	18218058	152897009	79	8657											
NKAPL	222698	genome.wustl.edu	37	chr6	28227844	28227844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagaagaaaaagaagaaaaAgaaacacaaaacaaagaaaa	31	0	6	4	0	0	6	0	0	0	6	0	6	0	6	0	0	2	0	0	0	13	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:28227844A>G	ENST00000343684.3	+	1	747	c.695A>G	c.(694-696)aAg>aGg	p.K232R	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	232	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						aagaagaaaaagaaacacaaa	0.348																																																	0													21	25	24					6																	28227844		2200	4299	6499	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.695A>G	6.37:g.28227844A>G	ENSP00000345716:p.Lys232Arg		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.K232R	ENST00000343684.3	37	c.695	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	A	8.013	0.757872	0.15846	.	.	ENSG00000189134	ENST00000343684	T	0.14266	2.52	4.21	3.06	0.35304	.	0.422095	0.25613	N	0.029471	T	0.02688	0.0081	L	0.41824	1.3	0.41124	D	0.985838	B	0.29627	0.252	B	0.26614	0.071	T	0.29971	-0.9994	10	0.10902	T	0.67	-11.8334	3.5517	0.07848	0.7018:0.0:0.1033:0.1948	.	232	Q5M9Q1	NKAPL_HUMAN	R	232	ENSP00000345716:K232R	ENSP00000345716:K232R	K	+	2	0	NKAPL	28335823	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	0.815000	0.27253	0.966000	0.38159	0.533000	0.62120	AAG	NKAPL	-	NULL	ENSG00000189134		0.348	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0	59	0	A			28227844	1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	G	G	28227844	A	G	28227844	3	3	36	1	0	0	0	0	1	0	0	0	10479	72	3	4	697	4	NKAPL	6	28227844	Missense_Mutation	SNP	A	TCGA-JY-A6FB-01A-11D-A33E-09	10009786	28227844	142887223	80	8658											
MRPS18B	28973	genome.wustl.edu	37	chr6	30593315	30593315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcccccaggttgaaccacGggaccttgacttcagtacct	9	9	8	15	1	1	2	1	2	0	0	2	3	2	3	5	2	2	2	5	2	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:30593315G>T	ENST00000259873.4	+	7	675	c.518G>T	c.(517-519)cGg>cTg	p.R173L	ATAT1_ENST00000318999.7_5'Flank|MRPS18B_ENST00000472229.1_3'UTR|ATAT1_ENST00000330083.5_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000329992.8_5'Flank|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376478.2_5'Flank|ATAT1_ENST00000376483.4_5'Flank|MRPS18B_ENST00000506373.2_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	173					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)	p.R173L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GTTGAACCACGGGACCTTGAC	0.502																																																	1	Substitution - Missense(1)	lung(1)											191	223	211					6																	30593315		1510	2709	4219	SO:0001583	missense	0			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"Mitochondrial ribosomal proteins / small subunits"	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.518G>T	6.37:g.30593315G>T	ENSP00000259873:p.Arg173Leu		A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.R173L	ENST00000259873.4	37	c.518	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228527	0.79576	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.50548	0.74	5.02	5.02	0.67125	.	0.225469	0.36374	N	0.002628	T	0.52901	0.1763	M	0.63428	1.95	0.80722	D	1	D;D	0.69078	0.997;0.992	D;P	0.67231	0.95;0.758	T	0.57323	-0.7831	10	0.66056	D	0.02	.	9.3014	0.37847	0.0946:0.0:0.9054:0.0	.	130;173	Q5STN0;Q9Y676	.;RT18B_HUMAN	L	173;130	ENSP00000259873:R173L	ENSP00000259873:R173L	R	+	2	0	MRPS18B	30701294	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.539000	0.45718	2.618000	0.88619	0.655000	0.94253	CGG	MRPS18B	-	NULL	ENSG00000204568		0.502	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2		0	96	0	G			30593315	1			no_errors	ENST00000259873	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	30593315	G	T	30593315	3	4	36	1	0	0	0	0	1	0	0	0	9867	1116	39	2	544	2	MRPS18B	6	30593315	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2365471	30593315	140521752	81	8659											
KIAA1949	170954	genome.wustl.edu	37	chr6	30653319	30653319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctcaggctcaactcttgGgctccccctatccccagcct	5	9	8	19	0	3	0	2	0	1	0	5	0	5	0	6	3	2	2	6	3	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:30653319G>T	ENST00000274853.3	-	1	2353	c.477C>A	c.(475-477)gcC>gcA	p.A159A	PPP1R18_ENST00000399199.3_Silent_p.A159A|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCAACTCTTGGGCTCCCCCTA	0.607																																																	0													146	162	157					6																	30653319		1210	2511	3721	SO:0001819	synonymous_variant	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.477C>A	6.37:g.30653319G>T			A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Silent	SNP	NULL	p.A159	ENST00000274853.3	37	c.477	CCDS43444.1	6																																																																																			PPP1R18	-	NULL	ENSG00000146112		0.607	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2		0	40	0	G	NM_133471		30653319	-1			no_errors	ENST00000274853	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.003	T	T	30653319	G	T	30653319	2	4	36	1	0	0	0	0	0	0	0	1	8290	1219	43	3		3	KIAA1949	6	30653319	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	60004	30653319	140461748	82	8660											
APOM	55937	genome.wustl.edu	37	chr6	31625026	31625026	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgggctctgtgtgccccgGaaatggatctaccacctgac	8	9	12	12	1	2	1	0	1	2	0	2	4	2	3	4	3	2	1	4	3	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:31625026G>T	ENST00000375916.3	+	3	790	c.294G>T	c.(292-294)cgG>cgT	p.R98R	APOM_ENST00000375920.4_Silent_p.R26R|C6orf47-AS1_ENST00000422049.1_RNA|APOM_ENST00000375918.2_Silent_p.R26R	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	98					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|response to glucose (GO:0009749)|reverse cholesterol transport (GO:0043691)	discoidal high-density lipoprotein particle (GO:0034365)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|lipid transporter activity (GO:0005319)|phospholipid binding (GO:0005543)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						GTGTGCCCCGGAAATGGATCT	0.512																																					Colon(39;129 858 13764 41453 42617)												0													119	107	111					6																	31625026		1509	2707	4216	SO:0001819	synonymous_variant	0			AJ245434	CCDS4710.1, CCDS59004.1	6p21	2014-01-22			ENSG00000204444	ENSG00000204444		"Apolipoproteins", "Lipocalins"	13916	protein-coding gene	gene with protein product		606907				10531326, 11418126	Standard	NM_019101		Approved	ApoM, G3a, NG20	uc003nvl.3	O95445	OTTHUMG00000031250	ENST00000375916.3:c.294G>T	6.37:g.31625026G>T			B0UX98|Q5SRP4|Q9P046|Q9UMP6	Silent	SNP	pfam_ApoM,superfamily_Calycin-like	p.R98	ENST00000375916.3	37	c.294	CCDS4710.1	6																																																																																			APOM	-	pfam_ApoM,superfamily_Calycin-like	ENSG00000204444		0.512	APOM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOM	HGNC	protein_coding	OTTHUMT00000076527.3	-	0	84	0	G	NM_019101		31625026	1	tier1	-	no_errors	ENST00000375916	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.973	T	T	31625026	G	T	31625026	2	4	36	1	0	0	0	0	0	0	0	1	812	1161	41	3		3	APOM	6	31625026	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	971707	31625026	139490041	83	8661											
GRM4	2914	genome.wustl.edu	37	chr6	34101143	34101143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgtccccatctatgCggatggaattcatgtgaggg	8	12	14	7	1	2	2	1	2	1	0	3	4	3	4	2	3	1	0	2	3	2	2	rs143062959		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:34101143C>T	ENST00000538487.2	-	2	574	c.131G>A	c.(130-132)cGc>cAc	p.R44H	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Missense_Mutation_p.R44H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	44					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCCATCTATGCGGATGGAATT	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		19576	0		0	False		,,,				2504	0																0								C	HIS/ARG	3,4403	4.2+/-10.8	0,3,2200	44	39	41		131	4.2	1	6	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GRM4	NM_000841.1	29	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	44/913	34101143	4,13002	2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.131G>A	6.37:g.34101143C>T	ENSP00000440556:p.Arg44His		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.R44H	ENST00000538487.2	37	c.131	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955541	0.53293	6.81E-4	1.16E-4	ENSG00000124493	ENST00000374181;ENST00000538487	T;T	0.72725	-0.68;-0.68	4.19	4.19	0.49359	.	0.072106	0.53938	D	0.000049	T	0.57066	0.2028	L	0.43646	1.37	0.80722	D	1	P;D	0.65815	0.796;0.995	B;P	0.53146	0.087;0.719	T	0.54384	-0.8302	10	0.15066	T	0.55	.	10.3635	0.44010	0.0:0.9071:0.0:0.0929	.	44;44	B7ZLU9;Q14833	.;GRM4_HUMAN	H	44	ENSP00000363296:R44H;ENSP00000440556:R44H	ENSP00000363296:R44H	R	-	2	0	GRM4	34209121	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.681000	0.46926	2.335000	0.79485	0.467000	0.42956	CGC	GRM4	-	superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4	ENSG00000124493		0.612	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0	76	0	C			34101143	-1	tier1	rs143062959	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	41.03	23	16	SNP	1.000	T	T	34101143	C	T	34101143	3	4	36	1	0	0	0	0	1	0	0	0	6826	768	27	1	2647	1	GRM4	6	34101143	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2476117	34101143	137013924	84	8662											
KCNK5	8645	genome.wustl.edu	37	chr6	39196767	39196767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcagatgcagcttctGtgtgtagtagtttttcttgg	6	17	12	6	0	2	2	0	1	2	1	2	2	2	2	0	1	3	6	0	1	2	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:39196767G>T	ENST00000359534.3	-	1	459	c.121C>A	c.(121-123)Cag>Aag	p.Q41K		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	41					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGCAGCTTCTGTGTGTAGTAG	0.572																																																	0													146	149	148					6																	39196767		2203	4300	6503	SO:0001583	missense	0			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.121C>A	6.37:g.39196767G>T	ENSP00000352527:p.Gln41Lys		B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.Q41K	ENST00000359534.3	37	c.121	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550457	0.27739	.	.	ENSG00000164626	ENST00000359534	T	0.19938	2.11	4.9	2.03	0.26663	.	0.323690	0.34291	N	0.004084	T	0.03178	0.0093	N	0.21194	0.64	0.29175	N	0.87689	B	0.02656	0.0	B	0.04013	0.001	T	0.45659	-0.9246	10	0.07644	T	0.81	.	9.5141	0.39095	0.0:0.3739:0.3753:0.2508	.	41	O95279	KCNK5_HUMAN	K	41	ENSP00000352527:Q41K	ENSP00000352527:Q41K	Q	-	1	0	KCNK5	39304745	0.969000	0.33509	0.052000	0.19188	0.975000	0.68041	1.610000	0.36869	0.232000	0.21100	0.511000	0.50034	CAG	KCNK5	-	NULL	ENSG00000164626		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1		0	52	0	G	NM_003740		39196767	-1			no_errors	ENST00000359534	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.218	T	T	39196767	G	T	39196767	3	4	36	1	0	0	0	0	1	0	0	0	8096	1386	48	3	1398	3	KCNK5	6	39196767	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	5095624	39196767	131918300	85	8663											
COL19A1	1310	genome.wustl.edu	37	chr6	70856587	70856587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcacctggtccacgtGggccaaaggtatacaaatat	12	8	11	10	1	0	0	0	0	0	0	1	1	1	1	3	4	2	2	3	4	5	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:70856587G>A	ENST00000322773.4	+	26	1909	c.1807G>A	c.(1807-1809)Ggg>Agg	p.G603R	COL19A1_ENST00000393344.1_Missense_Mutation_p.G225R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	603	Collagen-like 5.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGGTCCACGTGGGCCAAAGGT	0.313																																																	0													38	41	40					6																	70856587		2203	4300	6503	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1807G>A	6.37:g.70856587G>A	ENSP00000316030:p.Gly603Arg		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G603R	ENST00000322773.4	37	c.1807	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858755	0.32884	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.77;-5.77	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	H	0.99182	4.46	0.51233	D	0.999915	D	0.89917	1.0	D	0.97110	1.0	D	0.97060	0.9770	10	0.87932	D	0	.	18.3144	0.90215	0.0:0.0:1.0:0.0	.	603	Q14993	COJA1_HUMAN	R	603;225	ENSP00000316030:G603R;ENSP00000377013:G225R	ENSP00000316030:G603R	G	+	1	0	COL19A1	70913308	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	6.313000	0.72844	2.770000	0.95276	0.655000	0.94253	GGG	COL19A1	-	pfam_Collagen	ENSG00000082293		0.313	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	100	0	G			70856587	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	21.21	78	21	SNP	1.000	A	A	70856587	G	A	70856587	3	1	36	1	0	0	0	0	1	0	0	0	3683	1348	47	3	1905	3	COL19A1	6	70856587	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	31659820	70856587	100258480	86	8664											
FAM135A	57579	genome.wustl.edu	37	chr6	71235512	71235512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttggacaatgaaactgtaGcaatacattccttaaattca	16	12	5	8	0	1	1	1	1	0	0	2	2	2	2	1	1	3	2	1	1	7	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:71235512G>T	ENST00000418814.2	+	15	3339	c.2725G>T	c.(2725-2727)Gca>Tca	p.A909S	FAM135A_ENST00000505868.1_Missense_Mutation_p.A909S|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.A713S|FAM135A_ENST00000457062.2_Missense_Mutation_p.A696S|FAM135A_ENST00000370479.3_Missense_Mutation_p.A696S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	909										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGAAACTGTAGCAATACATTC	0.358																																																	0													66	69	68					6																	71235512		2203	4297	6500	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2725G>T	6.37:g.71235512G>T	ENSP00000410768:p.Ala909Ser		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.A909S	ENST00000418814.2	37	c.2725	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	5.036	0.192336	0.09599	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.17528	2.28;2.28;2.28;2.28;2.27	5.96	1.97	0.26223	.	0.326963	0.29459	N	0.012088	T	0.02807	0.0084	L	0.33485	1.01	0.25364	N	0.988759	B;B;B;B	0.19200	0.015;0.007;0.034;0.032	B;B;B;B	0.17979	0.009;0.009;0.016;0.02	T	0.43718	-0.9374	10	0.11182	T	0.66	.	4.8926	0.13735	0.2379:0.0:0.4976:0.2645	.	909;909;713;696	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	S	909;696;696;713;909	ENSP00000410768:A909S;ENSP00000359510:A696S;ENSP00000409201:A696S;ENSP00000354913:A713S;ENSP00000423307:A909S	ENSP00000354913:A713S	A	+	1	0	FAM135A	71292233	0.964000	0.33143	1.000000	0.80357	0.988000	0.76386	1.552000	0.36244	0.866000	0.35629	0.655000	0.94253	GCA	FAM135A	-	NULL	ENSG00000082269		0.358	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2		0	51	0	G	NM_020819		71235512	1			no_errors	ENST00000418814	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.997	T	T	71235512	G	T	71235512	3	4	36	1	0	0	0	0	1	0	0	0	5467	971	34	3	2853	3	FAM135A	6	71235512	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	378925	71235512	99879555	87	8665											
TMEM30A	55754	genome.wustl.edu	37	chr6	75994133	75994133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctcgatctcgcggatGttgttggaggtgacaaaaat	10	11	11	9	3	2	1	1	1	1	0	4	4	2	3	1	3	0	2	1	3	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:75994133G>T	ENST00000230461.6	-	1	551	c.222C>A	c.(220-222)aaC>aaA	p.N74K	RP1-234P15.4_ENST00000607221.1_lincRNA|TMEM30A_ENST00000475111.2_Missense_Mutation_p.N74K	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	74					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTCGCGGATGTTGTTGGAGG	0.582																																																	0													66	57	60					6																	75994133		2203	4300	6503	SO:0001583	missense	0			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"chromosome 6 open reading frame 67"	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.222C>A	6.37:g.75994133G>T	ENSP00000230461:p.Asn74Lys		A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	p.N74K	ENST00000230461.6	37	c.222	CCDS4983.1	6	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639276	0.87760	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000475111	.	.	.	5.11	4.24	0.50183	.	0.046484	0.85682	D	0.000000	T	0.26882	0.0658	L	0.41906	1.305	0.80722	D	1	P;P	0.42296	0.734;0.775	B;B	0.43155	0.287;0.41	T	0.15235	-1.0444	9	0.07482	T	0.82	.	13.7589	0.62954	0.0748:0.0:0.9252:0.0	.	74;74	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	K	74;58;74	.	ENSP00000230461:N74K	N	-	3	2	TMEM30A	76050853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.554000	0.60760	1.157000	0.42530	-0.137000	0.14449	AAC	TMEM30A	-	pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk	ENSG00000112697		0.582	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM30A	HGNC	protein_coding	OTTHUMT00000041248.2	-	0	69	0	G	NM_018247		75994133	-1	tier1	-	no_errors	ENST00000230461	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T	T	75994133	G	T	75994133	3	4	36	1	0	0	0	0	1	0	0	0	16200	1368	48	3	891	3	TMEM30A	6	75994133	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	4758621	75994133	95120934	88	8666											
SYNE1	23345	genome.wustl.edu	37	chr6	152718109	152718109	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccatcactgactgagtccaAaatgttctgtttcaggaaat	12	12	7	10	0	3	2	2	2	1	0	4	3	4	3	2	1	0	2	2	1	3	2	rs201692204	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:152718109A>C	ENST00000367255.5	-	50	7958	c.7357T>G	c.(7357-7359)Ttg>Gtg	p.L2453V	SYNE1_ENST00000448038.1_Missense_Mutation_p.L2460V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2460V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2492V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L2453V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2453					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTGAGTCCAAAATGTTCTGT	0.388										HNSCC(10;0.0054)																																							0													124	107	113					6																	152718109		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7357T>G	6.37:g.152718109A>C	ENSP00000356224:p.Leu2453Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2453V	ENST00000367255.5	37	c.7357	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	10.82	1.458778	0.26248	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.58210	0.44;0.48;0.35;0.47;0.57	6.07	-7.09	0.01553	.	0.000000	0.45361	D	0.000366	T	0.55641	0.1933	M	0.66939	2.045	0.58432	D	0.999994	D;P;P;P	0.76494	0.999;0.853;0.853;0.947	D;B;B;P	0.78314	0.991;0.288;0.288;0.481	T	0.73742	-0.3887	10	0.31617	T	0.26	.	20.7512	0.99720	0.2989:0.0:0.7011:0.0	.	2436;2453;2453;2460	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	2453;2460;2453;2460;2492	ENSP00000356224:L2453V;ENSP00000396024:L2460V;ENSP00000265368:L2453V;ENSP00000390975:L2460V;ENSP00000341887:L2492V	ENSP00000265368:L2453V	L	-	1	2	SYNE1	152759802	0.868000	0.29978	0.001000	0.08648	0.847000	0.48162	-0.034000	0.12225	-1.431000	0.01982	-0.290000	0.09829	TTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	71	0	A	NM_182961		152718109	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	20.99	64	17	SNP	0.001	C	C	152718109	A	C	152718109	3	2	36	1	0	0	0	0	1	0	0	0	15492	11	1	4	19497	4	SYNE1	6	152718109	Missense_Mutation	SNP	A	TCGA-JY-A6FB-01A-11D-A33E-09	76723976	152718109	18396958	89	8667											
ARID1B	57492	genome.wustl.edu	37	chr6	157525018	157525018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttactcctgaggcgtggcGtgtgatgatgtcccttaaat	8	13	12	8	2	0	3	0	3	0	0	2	3	2	3	2	2	1	1	2	2	3	2	rs544895806		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr6:157525018G>A	ENST00000350026.5	+	18	4875	c.4874G>A	c.(4873-4875)cGt>cAt	p.R1625H	ARID1B_ENST00000275248.4_Missense_Mutation_p.R1620H|ARID1B_ENST00000367148.1_Missense_Mutation_p.R1678H|ARID1B_ENST00000346085.5_Missense_Mutation_p.R1638H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1625					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAGGCGTGGCGTGTGATGATG	0.408													G|||	1	0.000199681	8e-04	0	5008	,	,		24788	0		0	False		,,,				2504	0																0													551	553	552					6																	157525018		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4874G>A	6.37:g.157525018G>A	ENSP00000055163:p.Arg1625His		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R1678H	ENST00000350026.5	37	c.5033	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344288	0.82022	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.07216	3.61;3.65;3.58;3.63;3.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.02138	-1.1207	10	0.52906	T	0.07	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	1625;1638;1620	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	1638;1625;1678;1620;1147	ENSP00000344546:R1638H;ENSP00000055163:R1625H;ENSP00000356116:R1678H;ENSP00000275248:R1620H;ENSP00000412835:R1147H	ENSP00000275248:R1620H	R	+	2	0	ARID1B	157566710	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.652000	0.90054	0.655000	0.94253	CGT	ARID1B	-	NULL	ENSG00000049618		0.408	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	97	0	G	NM_020732		157525018	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	43.56	57	44	SNP	1.000	A	A	157525018	G	A	157525018	3	1	36	1	0	0	0	0	1	0	0	0	914	1145	40	1	4987	1	ARID1B	6	157525018	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	4806909	157525018	13590049	90	8668											
ADAP1	11033	genome.wustl.edu	37	chr7	938841	938841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacggcgggaacccatgcaGcaccgtgtagccactctcct	8	6	12	15	3	1	0	0	0	1	0	2	2	1	2	4	3	4	3	4	3	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:938841G>A	ENST00000265846.5	-	10	1144	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ADAP1_ENST00000539900.1_Silent_p.L320L|ADAP1_ENST00000449296.2_Silent_p.L237L	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	309	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						AACCCATGCAGCACCGTGTAG	0.652																																																	0													49	48	48					7																	938841		2200	4288	6488	SO:0001819	synonymous_variant	0			AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16486	protein-coding gene	gene with protein product		608114	"centaurin, alpha 1"	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.925C>T	7.37:g.938841G>A			A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.L320	ENST00000265846.5	37	c.958	CCDS5318.1	7																																																																																			ADAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105963		0.652	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAP1	HGNC	protein_coding	OTTHUMT00000059701.2		0	101	0	G	NM_006869		938841	-1			no_errors	ENST00000539900	ensembl	human	known	74_37	silent	5.68	83	5	SNP	1.000	A	A	938841	G	A	938841	2	1	36	1	0	0	0	0	0	0	0	1	279	962	34	3		3	ADAP1	7	938841	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		938841	158199822	91	8669											
EIF3B	8662	genome.wustl.edu	37	chr7	2412354	2412354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatggaagtaagtttgcTgtgctgcacggagaggctcc	10	9	13	9	1	0	1	0	0	0	1	1	3	1	2	2	3	3	6	2	3	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:2412354T>C	ENST00000360876.4	+	12	1790	c.1734T>C	c.(1732-1734)gcT>gcC	p.A578A	EIF3B_ENST00000397011.2_Silent_p.A578A	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTAAGTTTGCTGTGCTGCACG	0.458																																																	0													130	113	118					7																	2412354		2203	4300	6503	SO:0001819	synonymous_variant	0			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"RNA binding motif (RRM) containing"	3280	protein-coding gene	gene with protein product		603917	"eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1734T>C	7.37:g.2412354T>C				Silent	SNP	pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom	p.A578	ENST00000360876.4	37	c.1734	CCDS5332.1	7																																																																																			EIF3B	-	pfam_TIF_beta_prop-like,pirsf_EIF3B	ENSG00000106263		0.458	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	-	0	146	0	T			2412354	1	tier1	-	no_errors	ENST00000360876	ensembl	human	known	74_37	silent	21.19	92	25	SNP	0.023	C	C	2412354	T	C	2412354	2	2	36	1	0	0	0	0	0	0	0	1	5027	1567	55	4		4	EIF3B	7	2412354	Silent	SNP	T	TCGA-JY-A6FB-01A-11D-A33E-09	1473513	2412354	156726309	92	8670											
SP4	6671	genome.wustl.edu	37	chr7	21469411	21469411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataatcaagctatactcacaGctgctaacaggacagcttct	14	10	6	11	0	3	0	2	0	1	0	3	1	3	1	0	1	6	4	0	1	5	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:21469411G>T	ENST00000222584.3	+	3	846	c.628G>T	c.(628-630)Gct>Tct	p.A210S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	210					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TATACTCACAGCTGCTAACAG	0.408																																																	0													80	80	80					7																	21469411		2203	4300	6503	SO:0001583	missense	0				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.628G>T	7.37:g.21469411G>T	ENSP00000222584:p.Ala210Ser		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A210S	ENST00000222584.3	37	c.628	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	G	3.336	-0.135716	0.06711	.	.	ENSG00000105866	ENST00000222584	T	0.08984	3.03	4.79	4.79	0.61399	.	0.156761	0.56097	D	0.000021	T	0.04272	0.0118	N	0.16368	0.405	0.41117	D	0.985781	B	0.27823	0.19	B	0.20184	0.028	T	0.19647	-1.0299	10	0.02654	T	1	.	11.1098	0.48226	0.1339:0.0:0.8661:0.0	.	210	Q02446	SP4_HUMAN	S	210	ENSP00000222584:A210S	ENSP00000222584:A210S	A	+	1	0	SP4	21435936	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	2.772000	0.47678	2.482000	0.83794	0.655000	0.94253	GCT	SP4	-	NULL	ENSG00000105866		0.408	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2		0	45	0	G	NM_003112		21469411	1			no_errors	ENST00000222584	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	21469411	G	T	21469411	3	4	36	1	0	0	0	0	1	0	0	0	15011	971	34	3	638	3	SP4	7	21469411	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	19057057	21469411	137669252	93	8671											
CDCA7L	55536	genome.wustl.edu	37	chr7	21948030	21948030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactacttcttctagacctGcttcttctaggggtagcctt	7	16	7	11	0	4	1	0	0	4	1	4	1	4	1	2	2	4	2	2	2	5	10			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:21948030G>A	ENST00000406877.3	-	4	678	c.399C>T	c.(397-399)agC>agT	p.S133S	CDCA7L_ENST00000356195.5_Silent_p.S99S|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Silent_p.S87S	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	133					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S133S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TTCTAGACCTGCTTCTTCTAG	0.453																																																	1	Substitution - coding silent(1)	lung(1)											124	109	114					7																	21948030		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.399C>T	7.37:g.21948030G>A			A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	pfam_Znf-4CXXC_R1	p.S133	ENST00000406877.3	37	c.399	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.453	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0	39	0	G	NM_018719		21948030	-1			no_errors	ENST00000406877	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.001	A	A	21948030	G	A	21948030	2	1	36	1	0	0	0	0	0	0	0	1	3098	1310	46	3		3	CDCA7L	7	21948030	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	478619	21948030	137190633	94	8672											
MGC87042	256227	genome.wustl.edu	37	chr7	22532994	22532994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaggatcgcctcattgcGtaagacagagtataaattgc	12	11	10	8	2	1	2	1	0	0	2	2	3	1	3	1	1	2	3	1	1	5	6	rs571881121		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:22532994G>A	ENST00000406890.2	-	3	583	c.489C>T	c.(487-489)taC>taT	p.Y163Y	STEAP1B_ENST00000404369.4_Silent_p.Y182Y	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	163						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(2)	4						GCCTCATTGCGTAAGACAGAG	0.388													g|||	1	0.000199681	0	0	5008	,	,		19769	0		0	False		,,,				2504	0.001																0													153	121	131					7																	22532994		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.489C>T	7.37:g.22532994G>A			B5MCI2	Silent	SNP	pfam_Fe3_Rdtase_TM_dom	p.Y163	ENST00000406890.2	37	c.489	CCDS55094.1	7																																																																																			STEAP1B	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000105889		0.388	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STEAP1B	HGNC	protein_coding	OTTHUMT00000326617.2	-	0	85	0	G			22532994	-1	tier1	-	no_errors	ENST00000406890	ensembl	human	known	74_37	silent	9.64	75	8	SNP	0.986	A	A	22532994	G	A	22532994	2	1	36	1	0	0	0	0	0	0	0	1	9592	1140	40	1		1	MGC87042	7	22532994	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	584964	22532994	136605669	95	8673											
GTPBP10	85865	genome.wustl.edu	37	chr7	89976069	89976069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagccatggtgcattgcaGttgcgtgttgttcagaaagg	8	12	14	7	1	1	1	1	0	0	1	1	1	1	1	1	2	5	6	1	2	1	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:89976069G>A	ENST00000222511.6	+	1	80	c.14G>A	c.(13-15)aGt>aAt	p.S5N	GTPBP10_ENST00000257659.8_Missense_Mutation_p.S5N	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	5					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)	p.S5N(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GTGCATTGCAGTTGCGTGTTG	0.597											OREG0018158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											209	194	199					7																	89976069		2203	4300	6503	SO:0001583	missense	0				CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.14G>A	7.37:g.89976069G>A	ENSP00000222511:p.Ser5Asn	1271	B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain	p.S5N	ENST00000222511.6	37	c.14	CCDS5617.1	7	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784352	0.31593	.	.	ENSG00000105793	ENST00000257659;ENST00000222511;ENST00000417207	T;T;T	0.32023	1.85;2.71;1.47	4.81	4.81	0.61882	.	0.831180	0.11247	N	0.584081	T	0.29256	0.0728	L	0.38531	1.155	0.09310	N	1	P;B	0.41848	0.763;0.361	B;B	0.39027	0.288;0.051	T	0.17592	-1.0364	9	.	.	.	-5.6976	17.4111	0.87486	0.0:0.0:1.0:0.0	.	5;5	A4D1E9-2;A4D1E9	.;GTPBA_HUMAN	N	5	ENSP00000257659:S5N;ENSP00000222511:S5N;ENSP00000416596:S5N	.	S	+	2	0	GTPBP10	89814005	0.502000	0.26107	0.010000	0.14722	0.083000	0.17756	4.988000	0.63863	2.657000	0.90304	0.655000	0.94253	AGT	GTPBP10	-	NULL	ENSG00000105793		0.597	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP10	HGNC	protein_coding	OTTHUMT00000059976.3	-	0	61	0	G	NM_033107		89976069	1	tier1	-	no_errors	ENST00000222511	ensembl	human	known	74_37	missense	62.16	28	46	SNP	0.062	A	A	89976069	G	A	89976069	3	1	36	1	0	0	0	0	1	0	0	0	6906	1029	36	3	16	3	GTPBP10	7	89976069	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	67443075	89976069	69162594	96	8674											
DOCK4	9732	genome.wustl.edu	37	chr7	111428768	111428768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacctttgccttctgacatCaggctatccagtttgtcaat	8	15	6	12	0	4	1	3	1	1	0	5	1	5	1	3	1	1	2	3	1	2	4	rs548719991	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:111428768C>T	ENST00000437633.1	-	32	3607	c.3351G>A	c.(3349-3351)ctG>ctA	p.L1117L	DOCK4_ENST00000428084.1_Silent_p.L1117L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1117					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGACATCAGGCTATCCA	0.418													C|||	3	0.000599042	0.0023	0	5008	,	,		21462	0		0	False		,,,				2504	0																0													121	118	119					7																	111428768		1919	4114	6033	SO:0001819	synonymous_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3351G>A	7.37:g.111428768C>T			O14584|O94824|Q8NB45	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.L1117	ENST00000437633.1	37	c.3351	CCDS47688.1	7																																																																																			DOCK4	-	NULL	ENSG00000128512		0.418	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0	67	0	C	NM_014705		111428768	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	silent	51.79	27	29	SNP	1.000	T	T	111428768	C	T	111428768	2	4	36	1	0	0	0	0	0	0	0	1	4703	813	29	3		3	DOCK4	7	111428768	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	21452699	111428768	47709895	97	8675											
MDFIC	29969	genome.wustl.edu	37	chr7	114619652	114619652	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacggccacacaggtctGagcaatggaaatggaattca	16	6	11	8	1	2	2	1	1	1	1	2	4	2	4	1	4	2	1	1	4	5	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:114619652G>T	ENST00000393486.1	+	4	899	c.309G>T	c.(307-309)ctG>ctT	p.L103L	MDFIC_ENST00000257724.3_Silent_p.L212L	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						ACACAGGTCTGAGCAATGGAA	0.468																																																	0													90	87	88					7																	114619652		2203	4300	6503	SO:0001819	synonymous_variant	0			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.309G>T	7.37:g.114619652G>T				Silent	SNP	NULL	p.L103	ENST00000393486.1	37	c.309	CCDS55155.1	7																																																																																			MDFIC	-	NULL	ENSG00000135272		0.468	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDFIC	HGNC	protein_coding	OTTHUMT00000059968.4		0	83	0	G	NM_199072		114619652	1			no_errors	ENST00000393486	ensembl	human	known	74_37	silent	5.75	82	5	SNP	1.000	T	T	114619652	G	T	114619652	2	4	36	1	0	0	0	0	0	0	0	1	9443	1277	45	3		3	MDFIC	7	114619652	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3190884	114619652	44519011	98	8676											
PLXNA4	91584	genome.wustl.edu	37	chr7	131870107	131870107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatggtggggtcttccaCatactgaaagaccaggtcct	10	9	11	11	1	1	2	0	1	1	1	3	3	3	2	3	4	1	0	3	4	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:131870107C>T	ENST00000359827.3	-	16	4071	c.3109G>A	c.(3109-3111)Gtg>Atg	p.V1037M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V1037M			Q9HCM2	PLXA4_HUMAN	plexin A4	1037	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGTCTTCCACATACTGAAAG	0.542																																																	0													120	127	125					7																	131870107		2063	4191	6254	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3109G>A	7.37:g.131870107C>T	ENSP00000352882:p.Val1037Met		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.V1037M	ENST00000359827.3	37	c.3109	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581170	0.46006	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.59906	0.23;0.23	5.6	2.83	0.33086	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.112691	0.64402	N	0.000012	T	0.57286	0.2043	L	0.58302	1.8	0.54753	D	0.999983	P	0.48016	0.904	P	0.47044	0.535	T	0.54207	-0.8328	10	0.41790	T	0.15	.	11.0701	0.47997	0.0:0.7982:0.0:0.2018	.	1037	Q9HCM2	PLXA4_HUMAN	M	1037	ENSP00000323194:V1037M;ENSP00000352882:V1037M	ENSP00000323194:V1037M	V	-	1	0	PLXNA4	131520647	0.203000	0.23435	0.879000	0.34478	0.603000	0.37013	0.803000	0.27083	0.330000	0.23485	0.561000	0.74099	GTG	PLXNA4	-	superfamily_Ig_E-set,smart_IPT	ENSG00000221866		0.542	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	74	0	C	NM_181775		131870107	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	60.26	31	47	SNP	0.988	T	T	131870107	C	T	131870107	3	4	36	1	0	0	0	0	1	0	0	0	12161	478	17	3	2643	3	PLXNA4	7	131870107	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	17250455	131870107	27268556	99	8677											
OR9A2	135924	genome.wustl.edu	37	chr7	142723727	142723727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctaatgaatttgatttgcGgaaggtaaactgaaatgtgg	13	13	12	3	1	1	3	0	3	1	0	1	4	1	4	0	3	2	1	0	3	6	4	rs143573729	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:142723727G>A	ENST00000350513.2	-	1	555	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165S(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGATTTGCGGAAGGTAAAC	0.398													G|||	6	0.00119808	8e-04	0.0043	5008	,	,		21830	0		0.001	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	81	78	79		493	3.4	1	7	dbSNP_134	79	20,8580	14.6+/-50.1	0,20,4280	yes	missense	OR9A2	NM_001001658.1	180	0,21,6482	AA,AG,GG		0.2326,0.0227,0.1615	benign	165/311	142723727	21,12985	2203	4300	6503	SO:0001583	missense	0				CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"GPCR / Class A : Olfactory receptors"	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.493C>T	7.37:g.142723727G>A	ENSP00000316518:p.Arg165Cys		B9EH51|Q6IF71|Q8NGD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R165C	ENST00000350513.2	37	c.493	CCDS34767.1	7	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	0.004	-2.317376	0.00235	2.27E-4	0.002326	ENSG00000179468	ENST00000350513	T	0.00021	9.03	4.53	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	N	0.000513	T	0.00039	0.0001	N	0.00016	-2.855	0.29391	N	0.86264	B	0.02656	0.0	B	0.04013	0.001	T	0.27536	-1.0071	10	0.02654	T	1	-15.2416	8.3405	0.32241	0.9037:0.0:0.0963:0.0	.	165	Q8NGT5	OR9A2_HUMAN	C	165	ENSP00000316518:R165C	ENSP00000316518:R165C	R	-	1	0	OR9A2	142433849	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.471000	0.60182	0.870000	0.35726	-0.340000	0.08031	CGC	OR9A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000179468		0.398	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9A2	HGNC	protein_coding	OTTHUMT00000350862.1		0	67	0	G			142723727	-1			no_errors	ENST00000350513	ensembl	human	known	74_37	missense	6.56	56	4	SNP	0.996	A	A	142723727	G	A	142723727	3	1	36	1	0	0	0	0	1	0	0	0	11287	1116	39	1	443	1	OR9A2	7	142723727	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	10853620	142723727	16414936	100	8678											
SSPO	23145	genome.wustl.edu	37	chr7	149493534	149493534	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcaggcgaggtttgtcAgggtgtggccccacgatgtc	5	10	17	9	2	1	0	1	0	0	0	2	2	1	0	2	5	1	2	2	5	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr7:149493534A>T	ENST00000378016.2	+	0	6610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGTTTGTCAGGGTGTGGCC	0.642																																																	0													96	110	105					7																	149493534		2154	4248	6402			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493534A>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0	38	0	A			149493534	1			no_errors	ENST00000378016	ensembl	human	known	74_37	rna	6.06	62	4	SNP	0.925	T	T	149493534	A	T	149493534	1	4	36	0	1	0	0	0	0	0	0	0	15236	179	7	5		5	SSPO	7	149493534	RNA	SNP	A	TCGA-JY-A6FB-01A-11D-A33E-09	6769807	149493534	9645129	101	8679											
RHOBTB2	23221	genome.wustl.edu	37	chr8	22852126	22852126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagaaaaggccccgatggCccccagaagacctcttcaga	12	5	11	13	1	2	4	1	0	1	4	2	6	2	4	5	3	0	0	5	3	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:22852126C>T	ENST00000519685.1	+	3	313	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000522948.1_5'Flank	NM_001160036.1	NP_001153508.1	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	361	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCCCCGATGGCCCCCAGAAGA	0.547																																																	0													127	141	137					8																	22852126		692	1591	2283	SO:0001819	synonymous_variant	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000519685.1:c.30C>T	8.37:g.22852126C>T			A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.G10	ENST00000519685.1	37	c.30	CCDS55210.1	8																																																																																			RHOBTB2	-	NULL	ENSG00000008853		0.547	RHOBTB2-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000375197.2	-	0	68	0	C			22852126	1	tier1	-	no_errors	ENST00000519685	ensembl	human	putative	74_37	silent	10.26	35	4	SNP	0.017	T	T	22852126	C	T	22852126	2	4	36	1	0	0	0	0	0	0	0	1	13379	726	26	3		3	RHOBTB2	8	22852126	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09		22852126	123511896	102	8680											
ADAM28	10863	genome.wustl.edu	37	chr8	24178785	24178785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagagggtatttgagatgGctaattatgtcaacatggta	14	12	12	3	0	1	2	1	1	0	2	1	4	1	2	0	3	1	3	0	3	6	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:24178785G>A	ENST00000265769.4	+	8	813	c.703G>A	c.(703-705)Gct>Act	p.A235T	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.A235T|ADAM28_ENST00000540823.1_Missense_Mutation_p.A2T|ADAM28_ENST00000397649.3_Intron	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	235	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A235S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTTGAGATGGCTAATTATGT	0.323																																					NSCLC(193;488 2149 22258 34798 40734)												1	Substitution - Missense(1)	endometrium(1)											131	135	134					8																	24178785		2203	4300	6503	SO:0001583	missense	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.703G>A	8.37:g.24178785G>A	ENSP00000265769:p.Ala235Thr		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A235T	ENST00000265769.4	37	c.703	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721164	0.68959	.	.	ENSG00000042980	ENST00000265769;ENST00000540823;ENST00000437154	T;T;T	0.63580	-0.05;-0.05;-0.05	5.27	4.25	0.50352	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.60958	0.2309	L	0.53617	1.68	0.80722	D	1	P;P;B	0.47484	0.741;0.896;0.082	B;P;B	0.48368	0.403;0.575;0.096	T	0.60571	-0.7237	9	0.48119	T	0.1	.	8.1027	0.30868	0.142:0.0:0.858:0.0	.	2;235;235	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	T	235;2;235	ENSP00000265769:A235T;ENSP00000443743:A2T;ENSP00000393699:A235T	ENSP00000265769:A235T	A	+	1	0	ADAM28	24234730	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.811000	0.38942	1.104000	0.41587	0.650000	0.86243	GCT	ADAM28	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000042980		0.323	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2		0	59	0	G	NM_021778		24178785	1			no_errors	ENST00000265769	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	24178785	G	A	24178785	3	1	36	1	0	0	0	0	1	0	0	0	246	1203	42	3	733	3	ADAM28	8	24178785	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1326659	24178785	122185237	103	8681											
EBF2	64641	genome.wustl.edu	37	chr8	25715990	25715990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagagtatccccgcGgagagatgctgcttgtgttg	8	10	15	8	2	0	2	0	0	0	2	1	5	1	4	2	2	3	5	2	2	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:25715990G>T	ENST00000520164.1	-	14	1910	c.1373C>A	c.(1372-1374)cCg>cAg	p.P458Q	EBF2_ENST00000535548.1_Missense_Mutation_p.P189Q|EBF2_ENST00000408929.3_Missense_Mutation_p.P310Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	458	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P458L(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTATCCCCGCGGAGAGATGCT	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												2	Substitution - Missense(2)	endometrium(2)											142	142	142					8																	25715990		2043	4197	6240	SO:0001583	missense	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1373C>A	8.37:g.25715990G>T	ENSP00000430241:p.Pro458Gln		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.P458Q	ENST00000520164.1	37	c.1373	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807998	0.90707	.	.	ENSG00000221818	ENST00000520164;ENST00000408929;ENST00000535548	T;T;T	0.48201	0.82;0.82;0.82	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.76661	-0.2877	10	0.87932	D	0	.	18.0598	0.89373	0.0:0.0:1.0:0.0	.	458	Q9HAK2	COE2_HUMAN	Q	458;310;189	ENSP00000430241:P458Q;ENSP00000386178:P310Q;ENSP00000437909:P189Q	ENSP00000386178:P310Q	P	-	2	0	EBF2	25771907	1.000000	0.71417	0.950000	0.38849	0.969000	0.65631	9.869000	0.99810	2.506000	0.84524	0.655000	0.94253	CCG	EBF2	-	NULL	ENSG00000221818		0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2		0	81	0	G	NM_022659		25715990	-1			no_errors	ENST00000520164	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	25715990	G	T	25715990	3	4	36	1	0	0	0	0	1	0	0	0	4895	1116	39	2	366	2	EBF2	8	25715990	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1537205	25715990	120648032	104	8682											
FNTA	2339	genome.wustl.edu	37	chr8	42919258	42919258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctagttagagatgtttatGattacttccgagctgtcctg	8	16	9	8	1	1	2	0	1	1	1	3	4	3	2	2	0	2	3	2	0	4	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:42919258G>A	ENST00000302279.3	+	3	495	c.301G>A	c.(301-303)Gat>Aat	p.D101N	FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.D58N|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000529687.1_5'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	101					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATGTTTATGATTACTTCCG	0.368																																																	0													178	169	172					8																	42919258		2203	4300	6503	SO:0001583	missense	0			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.301G>A	8.37:g.42919258G>A	ENSP00000303423:p.Asp101Asn		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.D101N	ENST00000302279.3	37	c.301	CCDS6140.1	8	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788165	0.70337	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	L	0.41710	1.295	0.80722	D	1	P;P	0.40534	0.473;0.72	B;B	0.37387	0.093;0.248	T	0.53208	-0.8471	9	0.44086	T	0.13	-27.0863	15.8992	0.79359	0.0:0.0:1.0:0.0	.	10;101	A8MVX8;P49354	.;FNTA_HUMAN	N	58;101;83;39	.	ENSP00000303423:D101N	D	+	1	0	FNTA;RP11-598P20.5	43038415	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.536000	0.98067	2.335000	0.79485	0.555000	0.69702	GAT	FNTA	-	NULL	ENSG00000168522		0.368	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNTA	HGNC	protein_coding	OTTHUMT00000383178.1	-	0	103	0	G	NM_002027		42919258	1	tier1	-	no_errors	ENST00000302279	ensembl	human	known	74_37	missense	27.71	60	23	SNP	1.000	A	A	42919258	G	A	42919258	3	1	36	1	0	0	0	0	1	0	0	0	5999	1290	45	3	311	3	FNTA	8	42919258	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	17203268	42919258	103444764	105	8683											
FNTA	2339	genome.wustl.edu	37	chr8	42919288	42919288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctgtcctgcagcgtgatGaaagaagtgaacgagctttt	11	10	13	7	2	0	4	0	3	0	1	1	6	1	4	1	0	5	3	1	0	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:42919288G>A	ENST00000302279.3	+	3	525	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.E68K|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000529687.1_5'UTR	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	111					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GCAGCGTGATGAAAGAAGTGA	0.388																																																	0													198	186	190					8																	42919288		2203	4300	6503	SO:0001583	missense	0			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.331G>A	8.37:g.42919288G>A	ENSP00000303423:p.Glu111Lys		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.E111K	ENST00000302279.3	37	c.331	CCDS6140.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.438057	0.96168	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.87971	2.92	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.73380	0.98;0.972	D	0.86877	0.2039	9	0.87932	D	0	-22.7993	15.8992	0.79359	0.0:0.0:1.0:0.0	.	20;111	A8MVX8;P49354	.;FNTA_HUMAN	K	68;111;93;49	.	ENSP00000303423:E111K	E	+	1	0	FNTA;RP11-598P20.5	43038445	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.536000	0.98067	2.335000	0.79485	0.555000	0.69702	GAA	FNTA	-	NULL	ENSG00000168522		0.388	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNTA	HGNC	protein_coding	OTTHUMT00000383178.1	-	0	104	0	G	NM_002027		42919288	1	tier1	-	no_errors	ENST00000302279	ensembl	human	known	74_37	missense	29.35	65	27	SNP	1.000	A	A	42919288	G	A	42919288	3	1	36	1	0	0	0	0	1	0	0	0	5999	1291	45	3	341	3	FNTA	8	42919288	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	30	42919288	103444734	106	8684											
CHD7	55636	genome.wustl.edu	37	chr8	61707598	61707598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaaaaaggtcaacaaggGaaaaacagaaggttctgaaa	22	4	11	4	0	2	3	1	1	1	2	2	5	2	4	0	3	2	1	0	3	9	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:61707598G>T	ENST00000423902.2	+	4	2629	c.2150G>T	c.(2149-2151)gGa>gTa	p.G717V	CHD7_ENST00000525508.1_Missense_Mutation_p.G717V|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	717	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTCAACAAGGGAAAAACAGAA	0.393																																																	1	Insertion - In frame(1)	lung(1)											86	88	87					8																	61707598		1830	4070	5900	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2150G>T	8.37:g.61707598G>T	ENSP00000392028:p.Gly717Val		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G717V	ENST00000423902.2	37	c.2150	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277488	0.40294	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.81499	-1.5;-1.08	5.46	5.46	0.80206	.	0.000000	0.40144	N	0.001163	T	0.59280	0.2182	N	0.02011	-0.69	0.58432	D	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.58020	-0.7710	10	0.40728	T	0.16	-19.1935	14.5129	0.67800	0.0:0.0:0.8534:0.1466	.	717	Q9P2D1	CHD7_HUMAN	V	717	ENSP00000392028:G717V;ENSP00000436027:G717V	ENSP00000307304:G717V	G	+	2	0	CHD7	61870152	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.994000	0.70623	2.713000	0.92767	0.655000	0.94253	GGA	CHD7	-	NULL	ENSG00000171316		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2		0	89	0	G	XM_098762		61707598	1			no_errors	ENST00000423902	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	61707598	G	T	61707598	3	4	36	1	0	0	0	0	1	0	0	0	3337	1174	41	3	2160	3	CHD7	8	61707598	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	18788310	61707598	84656424	107	8685											
SULF1	23213	genome.wustl.edu	37	chr8	70541858	70541858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagagtgcagcctgcctgGcctcacttgcttcacgcatg	7	9	12	13	1	2	1	2	0	0	1	2	2	2	2	3	2	4	3	3	2	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:70541858G>T	ENST00000260128.4	+	19	2945	c.2228G>T	c.(2227-2229)gGc>gTc	p.G743V	SULF1_ENST00000458141.2_Missense_Mutation_p.G743V|SULF1_ENST00000419716.3_Missense_Mutation_p.G743V|SULF1_ENST00000402687.4_Missense_Mutation_p.G743V|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	743					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.G743A(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGCCTGCCTGGCCTCACTTGC	0.542																																																	1	Substitution - Missense(1)	lung(1)											131	114	120					8																	70541858		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2228G>T	8.37:g.70541858G>T	ENSP00000260128:p.Gly743Val		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.G743V	ENST00000260128.4	37	c.2228	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793993	0.90453	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61783	-0.6992	10	0.72032	D	0.01	.	17.9404	0.89025	0.0:0.0:1.0:0.0	.	743	Q8IWU6	SULF1_HUMAN	V	743	ENSP00000403040:G743V;ENSP00000260128:G743V;ENSP00000385704:G743V;ENSP00000390315:G743V	ENSP00000260128:G743V	G	+	2	0	SULF1	70704412	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	9.618000	0.98365	2.440000	0.82611	0.655000	0.94253	GGC	SULF1	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.542	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2		0	82	0	G	NM_015170		70541858	1			no_errors	ENST00000260128	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	70541858	G	T	70541858	3	4	36	1	0	0	0	0	1	0	0	0	15417	1203	42	3	2286	3	SULF1	8	70541858	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	8834260	70541858	75822164	108	8686											
PDP1	54704	genome.wustl.edu	37	chr8	94935236	94935236	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctaatgaccacaatgctCaaaatgaaagagaactagaa	19	8	7	7	0	2	4	1	2	1	2	2	5	2	4	1	0	2	1	1	0	8	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:94935236C>T	ENST00000297598.4	+	2	1218	c.949C>T	c.(949-951)Caa>Taa	p.Q317*	PDP1_ENST00000396200.3_Nonsense_Mutation_p.Q342*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.Q317*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.Q317*	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	317					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACAATGCTCAAAATGAAAG	0.507																																																	0													78	71	74					8																	94935236		2203	4300	6503	SO:0001587	stop_gained	0			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.949C>T	8.37:g.94935236C>T	ENSP00000297598:p.Gln317*		B3KX71|J3KPU0|Q5U5K1	Nonsense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.Q342*	ENST00000297598.4	37	c.1024	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.779625	0.96929	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-13.5395	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	317;317;342;317	.	ENSP00000297598:Q317X	Q	+	1	0	PDP1	95004412	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.974000	0.70465	2.788000	0.95919	0.650000	0.86243	CAA	PDP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000164951		0.507	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	-	0	33	0	C	NM_018444		94935236	1	tier1	-	no_errors	ENST00000396200	ensembl	human	known	74_37	nonsense	18.52	22	5	SNP	1.000	T	T	94935236	C	T	94935236	4	4	36	1	0	0	0	0	0	1	0	0	11724	827	29	3	1132	3	PDP1	8	94935236	Nonsense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	24393378	94935236	51428786	109	8687											
RIMS2	9699	genome.wustl.edu	37	chr8	105001565	105001565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggggcttcgagggacccGcactatgaccggacattata	11	7	12	11	3	0	1	0	1	0	0	1	4	0	3	2	4	0	2	2	4	3	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:105001565G>T	ENST00000436393.2	+	15	2535	c.2294G>T	c.(2293-2295)cGc>cTc	p.R765L	RIMS2_ENST00000262231.10_Missense_Mutation_p.R826L|RIMS2_ENST00000507740.1_Missense_Mutation_p.R779L|RIMS2_ENST00000406091.3_Missense_Mutation_p.R987L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1049					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGAGGGACCCGCACTATGACC	0.378										HNSCC(12;0.0054)																																							0													132	130	130					8																	105001565		1874	4095	5969	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2294G>T	8.37:g.105001565G>T	ENSP00000390665:p.Arg765Leu		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R987L	ENST00000436393.2	37	c.2960		8	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862636	0.51482	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.20069	2.1;2.63;2.33;2.27;2.19;2.62	5.54	4.64	0.57946	.	.	.	.	.	T	0.37433	0.1003	L	0.61218	1.895	0.80722	D	1	P;P;D;D;B	0.54207	0.942;0.577;0.965;0.957;0.305	P;B;P;P;B	0.54815	0.532;0.235;0.761;0.673;0.051	T	0.26360	-1.0105	9	0.87932	D	0	.	15.1557	0.72739	0.0:0.0:0.8575:0.1425	.	1049;765;826;779;987	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	987;1002;987;1049;826;779;779;765	ENSP00000427018:R987L;ENSP00000384892:R987L;ENSP00000262231:R826L;ENSP00000423559:R779L;ENSP00000386228:R779L;ENSP00000390665:R765L	ENSP00000262231:R826L	R	+	2	0	RIMS2	105070741	1.000000	0.71417	0.791000	0.31998	0.135000	0.20990	4.588000	0.60999	1.304000	0.44892	0.484000	0.47621	CGC	RIMS2	-	NULL	ENSG00000176406		0.378	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	143	0	G	NM_001100117		105001565	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.981	T	T	105001565	G	T	105001565	3	4	36	1	0	0	0	0	1	0	0	0	13413	1087	38	2	3152	2	RIMS2	8	105001565	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	10066329	105001565	41362457	110	8688											
ZFPM2	23414	genome.wustl.edu	37	chr8	106813630	106813630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacacagagctggacaaGtgtgagaaaaagactcagct	15	7	11	8	0	2	4	1	2	1	3	2	6	2	5	0	1	2	2	0	1	3	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:106813630G>T	ENST00000407775.2	+	8	1570	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.K308N|ZFPM2_ENST00000378472.4_Missense_Mutation_p.K171N|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.K308N|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	440					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCTGGACAAGTGTGAGAAAA	0.453																																																	0													62	66	65					8																	106813630		1927	4142	6069	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1320G>T	8.37:g.106813630G>T	ENSP00000384179:p.Lys440Asn		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K440N	ENST00000407775.2	37	c.1320	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536981	0.45176	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.20463	2.07;2.55;2.55;3.75	5.97	5.1	0.69264	.	0.045004	0.85682	D	0.000000	T	0.20618	0.0496	L	0.46157	1.445	0.54753	D	0.999985	D	0.53151	0.958	P	0.45343	0.477	T	0.03306	-1.1050	10	0.22109	T	0.4	.	9.7412	0.40420	0.1944:0.0:0.8056:0.0	.	440	Q8WW38	FOG2_HUMAN	N	440;308;308;171	ENSP00000384179:K440N;ENSP00000430757:K308N;ENSP00000428720:K308N;ENSP00000367733:K171N	ENSP00000367733:K171N	K	+	3	2	ZFPM2	106882806	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.391000	0.44424	1.545000	0.49373	-0.136000	0.14681	AAG	ZFPM2	-	NULL	ENSG00000169946		0.453	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	49	0	G			106813630	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	106813630	G	T	106813630	3	4	36	1	0	0	0	0	1	0	0	0	17706	1020	36	3	1350	3	ZFPM2	8	106813630	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1812065	106813630	39550392	111	8689											
GSDMC	56169	genome.wustl.edu	37	chr8	130762331	130762331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttaggatggcaccaccaGggccatccaaatgacctgag	11	8	10	12	0	1	2	0	2	1	0	2	3	2	3	5	3	0	1	5	3	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:130762331G>T	ENST00000276708.4	-	12	1999	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	373						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGCACCACCAGGGCCATCCAA	0.383																																																	0													33	33	33					8																	130762331		2203	4300	6503	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1118C>A	8.37:g.130762331G>T	ENSP00000276708:p.Pro373His		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.P373H	ENST00000276708.4	37	c.1118	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	13.77	2.334919	0.41297	.	.	ENSG00000147697	ENST00000276708	T	0.28895	1.59	4.89	-0.496	0.12027	.	0.419987	0.22687	N	0.056876	T	0.29458	0.0734	M	0.64567	1.98	0.09310	N	1	P	0.45634	0.863	P	0.45881	0.496	T	0.14062	-1.0486	10	0.52906	T	0.07	.	4.5525	0.12120	0.2584:0.0:0.5985:0.1431	.	373	Q9BYG8	GSDMC_HUMAN	H	373	ENSP00000276708:P373H	ENSP00000276708:P373H	P	-	2	0	GSDMC	130831513	0.098000	0.21812	0.001000	0.08648	0.086000	0.17979	0.426000	0.21363	-0.194000	0.10399	0.591000	0.81541	CCT	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.383	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	-	0	87	0	G			130762331	-1	tier1	-	no_errors	ENST00000276708	ensembl	human	known	74_37	missense	32.73	74	36	SNP	0.015	T	T	130762331	G	T	130762331	3	4	36	1	0	0	0	0	1	0	0	0	6845	1000	35	3	420	3	GSDMC	8	130762331	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	23948701	130762331	15601691	112	8690											
BAI1	575	genome.wustl.edu	37	chr8	143623484	143623484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccccgctatcccggcGggcccctgcccgacttcccc	3	6	9	23	4	1	0	1	0	0	0	3	1	3	0	8	2	1	2	8	2	1	2	rs200543937		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:143623484G>T	ENST00000517894.1	+	28	4783	c.3889G>T	c.(3889-3891)Ggg>Tgg	p.G1297W	BAI1_ENST00000323289.5_Missense_Mutation_p.G1297W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1297					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTATCCCGGCGGGCCCCTGCC	0.647																																																	0																																										SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3889G>T	8.37:g.143623484G>T	ENSP00000430945:p.Gly1297Trp			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.G1297W	ENST00000517894.1	37	c.3889		8	.	.	.	.	.	.	.	.	.	.	g	21.1	4.092737	0.76756	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28069	1.63;1.63	4.26	4.26	0.50523	.	0.141093	0.31673	U	0.007242	T	0.46678	0.1405	L	0.40543	1.245	0.35235	D	0.777282	D	0.76494	0.999	D	0.77557	0.99	T	0.60737	-0.7204	10	0.66056	D	0.02	.	15.6704	0.77270	0.0:0.0:1.0:0.0	.	1297	E9PBK0	.	W	1297	ENSP00000430945:G1297W;ENSP00000313046:G1297W	ENSP00000313046:G1297W	G	+	1	0	BAI1	143620486	0.986000	0.35501	0.983000	0.44433	0.905000	0.53344	2.140000	0.42159	1.910000	0.55303	0.586000	0.80456	GGG	BAI1	-	NULL	ENSG00000181790		0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3		0	79	0	G	NM_001702		143623484	1			no_errors	ENST00000323289	ensembl	human	known	74_37	missense	5.48	68	4	SNP	0.997	T	T	143623484	G	T	143623484	3	4	36	1	0	0	0	0	1	0	0	0	1299	1116	39	2	3995	2	BAI1	8	143623484	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	12861153	143623484	2740538	113	8691											
TOP1MT	116447	genome.wustl.edu	37	chr8	144403487	144403487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctggacgtgctccacgcGgagggaacagcagcccacgg	9	3	15	14	4	0	0	0	0	0	0	1	3	1	3	2	4	5	3	2	4	1	0	rs72701720	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:144403487G>T	ENST00000329245.4	-	8	1064	c.1030C>A	c.(1030-1032)Cgc>Agc	p.R344S	TOP1MT_ENST00000519148.1_Missense_Mutation_p.R246S|TOP1MT_ENST00000523676.1_Missense_Mutation_p.R246S|TOP1MT_ENST00000521193.1_Missense_Mutation_p.R246S	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	344					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCTCCACGCGGAGGGAACAG	0.607																																																	0													113	97	102					8																	144403487		2202	4300	6502	SO:0001583	missense	0			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1030C>A	8.37:g.144403487G>T	ENSP00000328835:p.Arg344Ser		B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.R344S	ENST00000329245.4	37	c.1030	CCDS6400.1	8	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205653	0.39003	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	3.97	3.08	0.35506	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, C-terminal (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.158659	0.29172	U	0.012927	T	0.77691	0.4168	H	0.96777	3.88	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.77021	-0.2742	10	0.87932	D	0	.	6.0462	0.19762	0.1002:0.0:0.7145:0.1853	.	139;344	E7ESI1;Q969P6	.;TOP1M_HUMAN	S	344;246;246;246	ENSP00000328835:R344S;ENSP00000428369:R246S;ENSP00000429169:R246S;ENSP00000429181:R246S	ENSP00000328835:R344S	R	-	1	0	TOP1MT	144474862	0.956000	0.32656	0.477000	0.27303	0.160000	0.22226	0.260000	0.18424	0.612000	0.30071	0.514000	0.50259	CGC	TOP1MT	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	ENSG00000184428		0.607	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3	-	0	70	0	G	NM_052963		144403487	-1	tier1	-	no_errors	ENST00000329245	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.742	T	T	144403487	G	T	144403487	3	4	36	1	0	0	0	0	1	0	0	0	16412	1116	39	2	803	2	TOP1MT	8	144403487	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	780003	144403487	1960535	114	8692											
MAPK15	225689	genome.wustl.edu	37	chr8	144801009	144801009	+	Silent	SNP	C	C	T																															gacgtccacgtgcgctccatCttctaccagctcctgcgggc																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:144801009C>T	ENST00000338033.4	+	5	470	c.351C>T	c.(349-351)atC>atT	p.I117I	MAPK15_ENST00000395107.4_Silent_p.I134I|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Silent_p.I117I	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGCGCTCCATCTTCTACCAGC	0.687																																																	0													23	25	24					8																	144801009		2203	4300	6503	SO:0001819	synonymous_variant	0			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.351C>T	8.37:g.144801009C>T			Q2TCF9|Q8N362	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I117	ENST00000338033.4	37	c.351	CCDS6409.2	8																																																																																			MAPK15	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000181085		0.687	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1		0	10	0	C	NM_139021		144801009	1			no_errors	ENST00000338033	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.998	T	T	144801009	C	T	144801009	2	4	36	1	0	0	0	0	0	0	0	1	9315	903	32	3		3	MAPK15	8	144801009	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	397522	144801009	1563013	115	8693	35	2									
MAPK15	225689	genome.wustl.edu	37	chr8	144801012	144801012	+	Silent	SNP	C	C	T																															gtccacgtgcgctccatcttCtaccagctcctgcgggccac																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:144801012C>T	ENST00000338033.4	+	5	473	c.354C>T	c.(352-354)ttC>ttT	p.F118F	MAPK15_ENST00000395107.4_Silent_p.F135F|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Silent_p.F118F	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	118	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCCATCTTCTACCAGCTCC	0.687																																																	0													23	25	24					8																	144801012		2203	4300	6503	SO:0001819	synonymous_variant	0			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.354C>T	8.37:g.144801012C>T			Q2TCF9|Q8N362	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F118	ENST00000338033.4	37	c.354	CCDS6409.2	8																																																																																			MAPK15	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000181085		0.687	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1		0	10	0	C	NM_139021		144801012	1			no_errors	ENST00000338033	ensembl	human	known	74_37	silent	22.22	20	6	SNP	0.980	T	T	144801012	C	T	144801012	2	4	36	1	0	0	0	0	0	0	0	1	9315	912	32	3		3	MAPK15	8	144801012	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	3	144801012	1563010	116	8694	35	2									
MAPK15	225689	genome.wustl.edu	37	chr8	144802413	144802413	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccagacctcctggctctCggctcaggctgccgtgcctc	3	8	11	19	2	2	1	1	0	1	1	5	1	3	1	6	3	2	3	6	3	0	0	rs147473272		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr8:144802413C>T	ENST00000338033.4	+	8	854	c.735C>T	c.(733-735)ctC>ctT	p.L245L	MAPK15_ENST00000395107.4_Silent_p.L262L|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395108.2_Intron	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGGCTCTCGGCTCAGGCT	0.682																																																	0								C		1,4393		0,1,2196	25	23	24		735	-6	0	8	dbSNP_134	24	0,8582		0,0,4291	no	coding-synonymous	MAPK15	NM_139021.2		0,1,6487	TT,TC,CC		0.0,0.0228,0.0077		245/545	144802413	1,12975	2197	4291	6488	SO:0001819	synonymous_variant	0			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.735C>T	8.37:g.144802413C>T			Q2TCF9|Q8N362	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L245	ENST00000338033.4	37	c.735	CCDS6409.2	8																																																																																			MAPK15	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000181085		0.682	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1	-	0	37	0	C	NM_139021		144802413	1	tier1	rs147473272	no_errors	ENST00000338033	ensembl	human	known	74_37	silent	30.95	58	26	SNP	0.054	T	T	144802413	C	T	144802413	2	4	36	1	0	0	0	0	0	0	0	1	9315	871	31	1		1	MAPK15	8	144802413	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1401	144802413	1561609	117	8695											
TTC39B	158219	genome.wustl.edu	37	chr9	15172044	15172044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggaaggttttctccagagGtgaagagctgcctgaattct	10	11	13	7	0	2	4	0	2	2	2	3	6	2	5	2	3	2	2	2	3	3	3	rs373714994		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:15172044G>T	ENST00000512701.2	-	20	2058	c.2022C>A	c.(2020-2022)caC>caA	p.H674Q	TTC39B_ENST00000355694.2_Missense_Mutation_p.H608Q|TTC39B_ENST00000507285.1_Missense_Mutation_p.H509Q|TTC39B_ENST00000297615.5_Missense_Mutation_p.H605Q|TTC39B_ENST00000380850.4_Missense_Mutation_p.H661Q|TTC39B_ENST00000507993.1_Missense_Mutation_p.H509Q			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	674										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TTCTCCAGAGGTGAAGAGCTG	0.373																																																	0													105	101	102					9																	15172044		2203	4300	6503	SO:0001583	missense	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.2022C>A	9.37:g.15172044G>T	ENSP00000422496:p.His674Gln		A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.H674Q	ENST00000512701.2	37	c.2022	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409138	0.25378	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.40476	1.57;1.03;1.6;1.57;1.03;1.03	5.56	-0.39	0.12450	.	0.660669	0.15176	N	0.276389	T	0.18002	0.0432	N	0.16903	0.455	0.80722	D	1	B;B;B;B;B	0.18741	0.03;0.018;0.001;0.001;0.001	B;B;B;B;B	0.13407	0.009;0.004;0.001;0.001;0.001	T	0.14559	-1.0468	10	0.16896	T	0.51	-6.7653	0.6938	0.00896	0.2607:0.1263:0.3539:0.2592	.	605;661;606;608;191	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	Q	661;605;608;674;509;509	ENSP00000370231:H661Q;ENSP00000297615:H605Q;ENSP00000347920:H608Q;ENSP00000422496:H674Q;ENSP00000426539:H509Q;ENSP00000423392:H509Q	ENSP00000297615:H605Q	H	-	3	2	TTC39B	15162044	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	1.337000	0.33862	-0.367000	0.08052	0.655000	0.94253	CAC	TTC39B	-	NULL	ENSG00000155158		0.373	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	-	0	51	0	G	NM_152574		15172044	-1	tier1	-	no_errors	ENST00000512701	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.993	T	T	15172044	G	T	15172044	3	4	36	1	0	0	0	0	1	0	0	0	16757	1252	44	3	30	3	TTC39B	9	15172044	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		15172044	126041387	118	8696											
GRHPR	9380	genome.wustl.edu	37	chr9	37430521	37430521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagtgtctacccctgaGctggctgcccaatctgattt	6	12	8	15	0	3	2	1	2	2	0	3	2	3	2	4	1	3	2	4	1	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:37430521G>T	ENST00000318158.6	+	7	697	c.612G>T	c.(610-612)gaG>gaT	p.E204D	GRHPR_ENST00000607784.1_Missense_Mutation_p.E204D	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	204					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CTACCCCTGAGCTGGCTGCCC	0.582																																																	0													110	101	104					9																	37430521		2203	4300	6503	SO:0001583	missense	0			AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"primary hyperoxaluria type 2"	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.612G>T	9.37:g.37430521G>T	ENSP00000313432:p.Glu204Asp		Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.E204D	ENST00000318158.6	37	c.612	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645520	0.47258	.	.	ENSG00000137106	ENST00000377824;ENST00000318158;ENST00000438860	T;T	0.78924	-1.22;-1.22	5.52	4.63	0.57726	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.407996	0.30329	N	0.009864	T	0.65069	0.2656	L	0.34521	1.04	0.27566	N	0.950036	B;B;B;B	0.10296	0.002;0.0;0.003;0.0	B;B;B;B	0.15484	0.01;0.002;0.013;0.002	T	0.52064	-0.8625	10	0.20519	T	0.43	-22.3961	9.9776	0.41793	0.1541:0.0:0.8459:0.0	.	204;217;61;204	Q5T946;Q5M7Z5;Q9H636;Q9UBQ7	.;.;.;GRHPR_HUMAN	D	204;204;61	ENSP00000367055:E204D;ENSP00000313432:E204D	ENSP00000313432:E204D	E	+	3	2	GRHPR	37420521	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	2.504000	0.45416	1.480000	0.48289	0.655000	0.94253	GAG	GRHPR	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	ENSG00000137106		0.582	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	HGNC	protein_coding	OTTHUMT00000052442.1	-	0	35	0	G	NM_012203		37430521	1	tier1	-	no_errors	ENST00000318158	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	37430521	G	T	37430521	3	4	36	1	0	0	0	0	1	0	0	0	6793	962	34	3	638	3	GRHPR	9	37430521	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	22258477	37430521	103782910	119	8697											
FRMPD1	22844	genome.wustl.edu	37	chr9	37745111	37745111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccagacagagcctgcctgGccagcaacccaggactaaat	13	4	9	15	0	0	2	0	0	0	2	0	3	0	3	5	2	4	1	5	2	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:37745111G>T	ENST00000539465.1	+	16	3675	c.3082G>T	c.(3082-3084)Gcc>Tcc	p.A1028S	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1028S|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1028						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGCCTGCCTGGCCAGCAACCC	0.522																																																	0													82	87	86					9																	37745111		2203	4300	6503	SO:0001583	missense	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3082G>T	9.37:g.37745111G>T	ENSP00000444411:p.Ala1028Ser		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.A1028S	ENST00000539465.1	37	c.3082	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447627	0.26074	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06768	3.26;3.26	3.47	-6.94	0.01633	.	2.057610	0.02363	N	0.077027	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B	0.20261	0.043	B	0.17433	0.018	T	0.38112	-0.9676	10	0.08837	T	0.75	0.6661	7.1799	0.25765	0.1485:0.0:0.7198:0.1317	.	1028	Q5SYB0	FRPD1_HUMAN	S	1028	ENSP00000366995:A1028S;ENSP00000444411:A1028S	ENSP00000366995:A1028S	A	+	1	0	FRMPD1	37735111	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.628000	0.05515	-1.197000	0.02673	-0.391000	0.06502	GCC	FRMPD1	-	NULL	ENSG00000070601		0.522	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	-	0	62	0	G	NM_014907		37745111	1	tier1	-	no_errors	ENST00000377765	ensembl	human	known	74_37	missense	67.31	17	35	SNP	0.000	T	T	37745111	G	T	37745111	3	4	36	1	0	0	0	0	1	0	0	0	6081	1203	42	3	3140	3	FRMPD1	9	37745111	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	314590	37745111	103468320	120	8698											
TLE4	7091	genome.wustl.edu	37	chr9	82336771	82336771	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggacctgcgcgaggggCggcagctgcagcagcacgac	7	3	17	14	4	0	0	0	0	0	0	0	3	0	1	2	4	5	5	2	4	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:82336771C>A	ENST00000376552.2	+	17	2972	c.1954C>A	c.(1954-1956)Cgg>Agg	p.R652R	TLE4_ENST00000265284.6_Silent_p.R627R|TLE4_ENST00000376520.4_Silent_p.R684R|TLE4_ENST00000376544.3_Silent_p.R583R|TLE4_ENST00000376534.4_Silent_p.R289R|TLE4_ENST00000376537.4_Silent_p.R684R	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	652					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCGCGAGGGGCGGCAGCTGCA	0.562																																																	0													65	67	67					9																	82336771		2203	4300	6503	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1954C>A	9.37:g.82336771C>A			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R684	ENST00000376552.2	37	c.2050	CCDS43837.1	9																																																																																			TLE4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106829		0.562	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	-	0	75	0	C	XM_212237		82336771	1	tier1	-	no_errors	ENST00000376520	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	A	A	82336771	C	A	82336771	2	1	36	1	0	0	0	0	0	0	0	1	15988	759	27	2		2	TLE4	9	82336771	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	44591660	82336771	58876660	121	8699											
CTSL1	1514	genome.wustl.edu	37	chr9	90345320	90345320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattttgagccagactgtaGcagtgaagacatggatcatg	12	12	11	6	0	1	4	1	2	0	2	1	5	1	5	1	1	2	2	1	1	3	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:90345320G>T	ENST00000343150.5	+	7	1699	c.809G>T	c.(808-810)aGc>aTc	p.S270I	CTSL_ENST00000340342.6_Missense_Mutation_p.S270I|CTSL_ENST00000495822.1_3'UTR			P07711	CATL1_HUMAN	cathepsin L	270					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										CCAGACTGTAGCAGTGAAGAC	0.463																																																	0													119	109	113					9																	90345320		2203	4300	6503	SO:0001583	missense	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.809G>T	9.37:g.90345320G>T	ENSP00000345344:p.Ser270Ile		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.S270I	ENST00000343150.5	37	c.809	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813268	0.70912	.	.	ENSG00000135047	ENST00000343150;ENST00000340342	T;T	0.25912	1.77;1.77	4.42	3.51	0.40186	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55862	0.1947	M	0.90198	3.095	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.65429	-0.6170	10	0.72032	D	0.01	.	12.7841	0.57493	0.0812:0.0:0.9188:0.0	.	270	P07711	CATL1_HUMAN	I	270	ENSP00000345344:S270I;ENSP00000365061:S270I	ENSP00000365061:S270I	S	+	2	0	CTSL1	89535140	1.000000	0.71417	0.028000	0.17463	0.063000	0.16089	3.285000	0.51716	1.033000	0.39918	0.591000	0.81541	AGC	CTSL	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000135047		0.463	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL	HGNC	protein_coding	OTTHUMT00000052936.1	-	0	69	0	G	NM_001912		90345320	1	tier1	-	no_errors	ENST00000340342	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	90345320	G	T	90345320	3	4	36	1	0	0	0	0	1	0	0	0	4047	971	34	3	831	3	CTSL1	9	90345320	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	8008549	90345320	50868111	122	8700											
SMC2	10592	genome.wustl.edu	37	chr9	106887225	106887225	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactttgaaaaacactaaaGaaatccaaagaaaagcagaa	24	5	6	6	0	0	5	0	1	0	4	1	5	1	5	1	0	2	1	1	0	9	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:106887225G>T	ENST00000286398.7	+	18	2578	c.2290G>T	c.(2290-2292)Gaa>Taa	p.E764*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.E764*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.E764*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.E764*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	764					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AAACACTAAAGAAATCCAAAG	0.323																																																	0													45	47	46					9																	106887225		2203	4298	6501	SO:0001587	stop_gained	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2290G>T	9.37:g.106887225G>T	ENSP00000286398:p.Glu764*		Q6IEE0|Q9P1P2	Nonsense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.E764*	ENST00000286398.7	37	c.2290	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.417499	0.99164	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	5.1	5.1	0.69264	.	0.046061	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-25.7136	17.6198	0.88077	0.0:0.0:1.0:0.0	.	.	.	.	X	764	.	ENSP00000286398:E764X	E	+	1	0	SMC2	105927046	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	8.568000	0.90741	2.818000	0.97014	0.591000	0.81541	GAA	SMC2	-	superfamily_P-loop_NTPase	ENSG00000136824		0.323	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	-	0	52	0	G			106887225	1	tier1	-	no_errors	ENST00000286398	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T	T	106887225	G	T	106887225	4	4	36	1	0	0	0	0	0	1	0	0	14828	943	33	3	2356	3	SMC2	9	106887225	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	16541905	106887225	34326206	123	8701											
GAPVD1	26130	genome.wustl.edu	37	chr9	128124957	128124957	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctagctgtctgtctggagagGagtcctattggtggatgcag	7	12	15	7	0	2	1	0	0	2	1	3	4	3	3	1	4	2	2	1	4	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:128124957G>T	ENST00000495955.1	+	28	4659	c.4369G>T	c.(4369-4371)Gag>Tag	p.E1457*	GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.E1418*|GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.E1391*|GAPVD1_ENST00000470056.1_Nonsense_Mutation_p.E1412*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.E1439*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.E1457*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.E1466*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.E1431*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1457	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTCTGGAGAGGAGTCCTATTG	0.448																																																	0													139	129	132					9																	128124957		2203	4300	6503	SO:0001587	stop_gained	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4369G>T	9.37:g.128124957G>T	ENSP00000419063:p.Glu1457*		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.E1466*	ENST00000495955.1	37	c.4396		9	.	.	.	.	.	.	.	.	.	.	G	44	10.676071	0.99448	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000297933;ENST00000312123;ENST00000438537	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.68	0.91544	0.0:0.0:1.0:0.0	.	.	.	.	X	1412;1466;1457;1431;1391;1457;1439;1418;150	.	ENSP00000265956:E1431X	E	+	1	0	GAPVD1	127164778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.571000	0.98176	2.704000	0.92352	0.655000	0.94253	GAG	GAPVD1	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	ENSG00000165219		0.448	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1	-	0	33	0	G			128124957	1	tier1	-	no_errors	ENST00000394105	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T	T	128124957	G	T	128124957	4	4	36	1	0	0	0	0	0	1	0	0	6264	1175	41	3	4498	3	GAPVD1	9	128124957	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	21237732	128124957	13088474	124	8702											
FAM129B	64855	genome.wustl.edu	37	chr9	130289517	130289517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtagttgtggggcacgaGgctgaagcggtttctccact	6	10	14	11	3	1	1	0	1	1	0	2	2	1	1	2	4	1	5	2	4	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:130289517G>A	ENST00000373312.3	-	3	484	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	FAM129B_ENST00000373314.3_Missense_Mutation_p.L78F|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	91	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGGGGCACGAGGCTGAAGCGG	0.637																																																	0													82	75	77					9																	130289517		2203	4300	6503	SO:0001583	missense	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.271C>T	9.37:g.130289517G>A	ENSP00000362409:p.Leu91Phe		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.L91F	ENST00000373312.3	37	c.271	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569113	0.45798	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.17054	2.3;2.3	5.53	3.58	0.41010	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.204024	0.43110	D	0.000617	T	0.12178	0.0296	L	0.31664	0.95	0.40320	D	0.978817	B;B	0.15930	0.015;0.015	B;B	0.18561	0.022;0.022	T	0.07986	-1.0744	10	0.41790	T	0.15	-32.4446	8.6782	0.34191	0.0847:0.1535:0.7618:0.0	.	78;91	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	F	78;91	ENSP00000362411:L78F;ENSP00000362409:L91F	ENSP00000362409:L91F	L	-	1	0	FAM129B	129329338	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.623000	0.54224	1.334000	0.45468	0.561000	0.74099	CTC	FAM129B	-	pfscan_Pleckstrin_homology	ENSG00000136830		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1	-	0	88	0	G	NM_022833		130289517	-1	tier1	-	no_errors	ENST00000373312	ensembl	human	known	74_37	missense	27.20	91	34	SNP	0.984	A	A	130289517	G	A	130289517	3	1	36	1	0	0	0	0	1	0	0	0	5456	1000	35	3	2017	3	FAM129B	9	130289517	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2164560	130289517	10923914	125	8703											
ABCA2	20	genome.wustl.edu	37	chr9	139905491	139905491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacgacgccctcaaccGccatggccaccagtccgcgg	8	3	10	20	5	1	0	1	0	0	0	2	1	2	0	7	2	2	0	7	2	1	0	rs573640596	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:139905491G>A	ENST00000371605.3	-	38	6134	c.5987C>T	c.(5986-5988)gCg>gTg	p.A1996V	ABCA2_ENST00000265662.5_Missense_Mutation_p.A1997V|ABCA2_ENST00000341511.6_Missense_Mutation_p.A1997V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1996					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.A1997V(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCTCAACCGCCATGGCCAC	0.672													g|||	2	0.000399361	0	0	5008	,	,		7513	0.001		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											23	29	27					9																	139905491		1986	4144	6130	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5987C>T	9.37:g.139905491G>A	ENSP00000360666:p.Ala1996Val		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1997V	ENST00000371605.3	37	c.5990		9	.	.	.	.	.	.	.	.	.	.	g	11.42	1.633488	0.29068	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.87412	-2.25;-2.25;-2.25	3.42	3.42	0.39159	.	0.399450	0.26069	U	0.026523	T	0.79661	0.4484	L	0.34521	1.04	0.23506	N	0.997535	B;B	0.12013	0.001;0.005	B;B	0.14023	0.006;0.01	T	0.61491	-0.7052	10	0.15066	T	0.55	.	15.0671	0.72005	0.0:0.0:1.0:0.0	.	1996;2027	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	V	1997;1996;2027;1997	ENSP00000265662:A1997V;ENSP00000360666:A1996V;ENSP00000344155:A1997V	ENSP00000265662:A1997V	A	-	2	0	ABCA2	139025312	1.000000	0.71417	0.833000	0.33012	0.209000	0.24338	7.369000	0.79578	1.760000	0.52011	0.282000	0.19409	GCG	ABCA2	-	NULL	ENSG00000107331		0.672	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	98	0	G	NM_001606		139905491	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	46.73	57	50	SNP	1.000	A	A	139905491	G	A	139905491	3	1	36	1	0	0	0	0	1	0	0	0	32	1087	38	1	1364	1	ABCA2	9	139905491	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	9615974	139905491	1307940	126	8704											
EHMT1	79813	genome.wustl.edu	37	chr9	140710434	140710434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagttcaacatggcggaGcctcccttgatcttcgaatg	9	10	10	12	2	2	2	1	1	1	1	4	4	3	3	3	2	2	1	3	2	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr9:140710434G>T	ENST00000460843.1	+	23	3321	c.3294G>T	c.(3292-3294)gaG>gaT	p.E1098D		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1098	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACATGGCGGAGCCTCCCTTGA	0.557																																																	0													53	46	49					9																	140710434		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.3294G>T	9.37:g.140710434G>T	ENSP00000417980:p.Glu1098Asp		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.E1098D	ENST00000460843.1	37	c.3294	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743292	0.69418	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.76578	-1.03	5.3	3.07	0.35406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.044560	0.85682	D	0.000000	T	0.62938	0.2469	N	0.20328	0.56	0.80722	D	1	B	0.15930	0.015	B	0.25506	0.061	T	0.55114	-0.8191	10	0.20519	T	0.43	.	12.0331	0.53410	0.1696:0.0:0.8304:0.0	.	1098	Q9H9B1	EHMT1_HUMAN	D	1067;1098	ENSP00000417980:E1098D	ENSP00000360453:E1067D	E	+	3	2	EHMT1	139830255	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	3.763000	0.55257	1.188000	0.43014	0.591000	0.81541	GAG	EHMT1	-	pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom	ENSG00000181090		0.557	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0	66	0	G	NM_024757		140710434	1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	140710434	G	T	140710434	3	4	36	1	0	0	0	0	1	0	0	0	4997	962	34	3	3433	3	EHMT1	9	140710434	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	804943	140710434	502997	127	8705											
ITIH5	80760	genome.wustl.edu	37	chr10	7605279	7605279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccacctgaaggagcagagGgtgagtgaggttctggctgg	8	8	17	8	0	1	4	0	3	1	1	2	5	2	5	2	5	1	3	2	5	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:7605279G>T	ENST00000256861.6	-	14	2674	c.2596C>A	c.(2596-2598)Cct>Act	p.P866T	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000446830.2_Missense_Mutation_p.P648T|ITIH5_ENST00000298441.6_Missense_Mutation_p.P652T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	866					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGGAGCAGAGGGTGAGTGAGG	0.572																																																	0													71	66	68					10																	7605279		2203	4300	6503	SO:0001583	missense	0					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.2596C>A	10.37:g.7605279G>T	ENSP00000256861:p.Pro866Thr		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.P866T	ENST00000256861.6	37	c.2596		10	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096858	0.20552	.	.	ENSG00000123243	ENST00000256861;ENST00000298441;ENST00000446830	T;T;T	0.02032	4.7;4.49;4.51	5.43	1.53	0.23141	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	1.706600	0.02321	N	0.073020	T	0.02083	0.0065	.	.	.	0.09310	N	1	B;B	0.28470	0.213;0.017	B;B	0.28385	0.089;0.005	T	0.49153	-0.8969	9	0.17832	T	0.49	-0.0139	9.1022	0.36676	0.2964:0.0:0.7036:0.0	.	866;652	Q86UX2;Q86UX2-3	ITIH5_HUMAN;.	T	866;652;648	ENSP00000256861:P866T;ENSP00000298441:P652T;ENSP00000387969:P648T	ENSP00000256861:P866T	P	-	1	0	ITIH5	7645285	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.615000	0.24329	0.029000	0.15352	-0.131000	0.14894	CCT	ITIH5	-	pfam_ITI_HC_C	ENSG00000123243		0.572	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1		0	40	0	G	NM_030569		7605279	-1			no_errors	ENST00000256861	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.000	T	T	7605279	G	T	7605279	3	4	36	1	0	0	0	0	1	0	0	0	7934	1232	43	3	278	3	ITIH5	10	7605279	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		7605279	127929468	128	8706											
USP6NL	9712	genome.wustl.edu	37	chr10	11527902	11527903	+	Frame_Shift_Ins	INS	-	-	A																															agtttaggaaaaccttggacINSaaaaaagcctagaatacaaa																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:11527902_11527903insA	ENST00000609104.1	-	11	1066_1067	c.672_673insT	c.(670-675)tttgtcfs	p.V225fs	USP6NL_ENST00000277575.5_Frame_Shift_Ins_p.V242fs|USP6NL_ENST00000379237.2_Frame_Shift_Ins_p.V248fs	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	225	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAACCTTGGACAAAAAAGCCTA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.673dupT	10.37:g.11527908_11527908dupA	ENSP00000476462:p.Val225fs		A8KA79|Q15400|Q5VV10|Q7L0K9	Frame_Shift_Ins	INS	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V247fs	ENST00000609104.1	37	c.742_741	CCDS53492.1	10																																																																																			USP6NL	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000148429		0.322	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3		0	44	0	-	NM_014688		11527903	-1	tier1		no_errors	ENST00000379237	ensembl	human	known	74_37	frame_shift_ins	15.79	48	9	INS	1.000:1.000	A	A	11527903	-	A	11527902	7	5	36	1	0	1	1	0	0	0	0	0	17136	478	17	0	1833	0	USP6NL	10	11527902	Frame_Shift_Ins	INS	-	TCGA-JY-A6FB-01A-11D-A33E-09	3922623	11527902	124006845	129	8707											
FRMD4A	55691	genome.wustl.edu	37	chr10	13702382	13702382	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctaaagaggactcactcCacattttgggcttgatgggt	10	12	10	9	0	2	2	1	1	1	1	3	3	3	3	1	3	0	1	1	3	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:13702382C>T	ENST00000357447.2	-	20	2200	c.1832G>A	c.(1831-1833)tGg>tAg	p.W611*	FRMD4A_ENST00000358621.4_Nonsense_Mutation_p.W596*|FRMD4A_ENST00000378503.1_Nonsense_Mutation_p.W611*	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	611					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGACTCACTCCACATTTTGGG	0.542											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													137	121	126					10																	13702382		2203	4300	6503	SO:0001587	stop_gained	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1832G>A	10.37:g.13702382C>T	ENSP00000350032:p.Trp611*	689	A7E2Y3|Q5T377	Nonsense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.W611*	ENST00000357447.2	37	c.1832	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.607453	0.97701	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-6.8293	20.2946	0.98546	0.0:1.0:0.0:0.0	.	.	.	.	X	596;611;611	.	ENSP00000350032:W611X	W	-	2	0	FRMD4A	13742388	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.770000	0.85390	2.804000	0.96469	0.462000	0.41574	TGG	FRMD4A	-	NULL	ENSG00000151474		0.542	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	106	0	C	NM_018027		13702382	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	nonsense	26.60	69	25	SNP	1.000	T	T	13702382	C	T	13702382	4	4	36	1	0	0	0	0	0	1	0	0	6075	595	21	3	1307	3	FRMD4A	10	13702382	Nonsense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2174480	13702382	121832365	130	8708											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14970128	14970128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaattccacagggtaatttGctccactgaaaatattcctc	12	13	6	10	0	0	1	0	1	0	0	4	1	3	1	3	1	1	3	3	1	5	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:14970128G>T	ENST00000378278.2	-	10	841	c.804C>A	c.(802-804)agC>agA	p.S268R	DCLRE1C_ENST00000378246.2_Missense_Mutation_p.S153R|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.S148R|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.S148R|DCLRE1C_ENST00000492201.1_5'Flank|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.S148R|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.S153R|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.S153R|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.S148R|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.S268R|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.S148R			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	268					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						AGGGTAATTTGCTCCACTGAA	0.358								Non-homologous end-joining																																									0													94	88	90					10																	14970128		2203	4300	6503	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.804C>A	10.37:g.14970128G>T	ENSP00000367527:p.Ser268Arg		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.S268R	ENST00000378278.2	37	c.804	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662694	0.47572	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258	T;T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.6	0.444	0.16592	DNA repair metallo-beta-lactamase (1);	0.209202	0.64402	D	0.000019	T	0.36963	0.0986	L	0.38838	1.175	0.23186	N	0.998159	P;B;B	0.48089	0.905;0.007;0.029	P;B;B	0.49226	0.603;0.009;0.078	T	0.25847	-1.0120	10	0.56958	D	0.05	.	8.8369	0.35117	0.5173:0.0:0.4827:0.0	.	268;153;268	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	R	268;148;153;153;153;148;148;148;268;148	ENSP00000367538:S268R;ENSP00000400529:S148R;ENSP00000367492:S153R;ENSP00000350349:S153R;ENSP00000367496:S153R;ENSP00000380030:S148R;ENSP00000367503:S148R;ENSP00000367502:S148R;ENSP00000367527:S268R;ENSP00000367506:S148R	ENSP00000350349:S153R	S	-	3	2	DCLRE1C	15010134	1.000000	0.71417	0.858000	0.33744	0.716000	0.41182	0.660000	0.25009	-0.130000	0.11599	0.563000	0.77884	AGC	DCLRE1C	-	pfam_DRMBL	ENSG00000152457		0.358	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	42	0	G	NM_022487		14970128	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	14970128	G	T	14970128	3	4	36	1	0	0	0	0	1	0	0	0	4305	1310	46	3	1294	3	DCLRE1C	10	14970128	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1267746	14970128	120564619	131	8709											
ARMC4	55130	genome.wustl.edu	37	chr10	28149697	28149697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgctttgtgctcacCgaaggccactctattcctgc	7	11	8	15	1	2	0	1	0	1	0	3	1	3	0	4	1	4	2	4	1	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:28149697C>A	ENST00000305242.5	-	19	2970	c.2878G>T	c.(2878-2880)Ggt>Tgt	p.G960C	ARMC4_ENST00000537576.1_Missense_Mutation_p.G652C|ARMC4_ENST00000545014.1_Missense_Mutation_p.G485C	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	960					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGTGCTCACCGAAGGCCACT	0.463																																																	0													180	146	157					10																	28149697		2203	4300	6503	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2878G>T	10.37:g.28149697C>A	ENSP00000306410:p.Gly960Cys		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.G960C	ENST00000305242.5	37	c.2878	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403041	0.83230	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.93859	-3.3;-3.3;-0.13	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.048899	0.85682	D	0.000000	D	0.97387	0.9145	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.989;0.997	D	0.96966	0.9705	10	0.45353	T	0.12	-27.4022	19.6409	0.95757	0.0:1.0:0.0:0.0	.	485;960	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	C	652;960;485	ENSP00000443208:G652C;ENSP00000306410:G960C;ENSP00000441076:G485C	ENSP00000306410:G960C	G	-	1	0	ARMC4	28189703	1.000000	0.71417	0.658000	0.29665	0.755000	0.42902	7.490000	0.81461	2.711000	0.92665	0.655000	0.94253	GGT	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169126		0.463	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1		0	54	0	C	NM_018076		28149697	-1			no_errors	ENST00000305242	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	28149697	C	A	28149697	3	1	36	1	0	0	0	0	1	0	0	0	954	652	23	2	264	2	ARMC4	10	28149697	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	13179569	28149697	107385050	132	8710											
RBP3	5949	genome.wustl.edu	37	chr10	48382047	48382047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccaggagctgccatccGaggcccccacagaacgggcc	8	4	11	18	2	0	1	0	0	0	1	2	3	2	2	6	3	3	1	6	3	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:48382047G>A	ENST00000224600.4	-	4	3715	c.3602C>T	c.(3601-3603)tCg>tTg	p.S1201L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1201	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGCCATCCGAGGCCCCCAC	0.647																																																	0													72	72	72					10																	48382047		2203	4300	6503	SO:0001583	missense	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3602C>T	10.37:g.48382047G>A	ENSP00000224600:p.Ser1201Leu		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.S1201L	ENST00000224600.4	37	c.3602	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325098	0.41197	.	.	ENSG00000107618	ENST00000224600	T	0.66099	-0.19	5.69	-3.01	0.05463	Interphotoreceptor retinol-binding (2);	1.046820	0.07465	N	0.901342	T	0.28167	0.0695	N	0.02181	-0.65	0.09310	N	1	B	0.28026	0.198	B	0.22386	0.039	T	0.13791	-1.0496	10	0.30078	T	0.28	-0.6574	5.0714	0.14609	0.0652:0.1889:0.3067:0.4393	.	1201	P10745	RET3_HUMAN	L	1201	ENSP00000224600:S1201L	ENSP00000224600:S1201L	S	-	2	0	RBP3	48002053	0.000000	0.05858	0.000000	0.03702	0.673000	0.39480	0.033000	0.13754	-0.205000	0.10219	0.655000	0.94253	TCG	RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.647	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0	82	0	G	NM_002900		48382047	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	missense	42.31	30	22	SNP	0.000	A	A	48382047	G	A	48382047	3	1	36	1	0	0	0	0	1	0	0	0	13202	1059	37	1	145	1	RBP3	10	48382047	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	20232350	48382047	87152700	133	8711											
NCOA4	8031	genome.wustl.edu	37	chr10	51586330	51586330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccccagaccattatggCctccctgcagtttgtgatct	6	13	7	15	0	1	2	0	1	1	1	3	2	3	2	6	1	1	2	6	1	1	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:51586330C>T	ENST00000443446.1	+	9	1987	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	NCOA4_ENST00000344348.6_Silent_p.G586G|NCOA4_ENST00000374087.4_Silent_p.G586G|NCOA4_ENST00000438493.1_Silent_p.G602G|NCOA4_ENST00000430396.2_Silent_p.G486G|NCOA4_ENST00000452682.1_Silent_p.G602G|NCOA4_ENST00000414907.2_Silent_p.G420G|NCOA4_ENST00000374082.1_Missense_Mutation_p.A541V	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	586					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ACCATTATGGCCTCCCTGCAG	0.428			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													154	149	151					10																	51586330		2203	4300	6503	SO:0001819	synonymous_variant	0			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1758C>T	10.37:g.51586330C>T			A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	pfam_ARA70	p.A541V	ENST00000443446.1	37	c.1622	CCDS7237.1	10	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821187	0.50633	.	.	ENSG00000138293	ENST00000374082	T	0.19250	2.16	5.98	4.13	0.48395	.	.	.	.	.	T	0.30448	0.0765	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.06303	-1.0834	6	0.87932	D	0	-13.3169	6.2071	0.20608	0.0:0.6528:0.1389:0.2082	.	.	.	.	V	541	ENSP00000363195:A541V	ENSP00000363195:A541V	A	+	2	0	NCOA4	51256336	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.198000	0.32223	1.538000	0.49270	0.655000	0.94253	GCC	NCOA4	-	NULL	ENSG00000138293		0.428	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA4	HGNC	protein_coding	OTTHUMT00000048052.1	-	0	88	0	C	NM_005437		51586330	1	tier1	-	no_errors	ENST00000374082	ensembl	human	novel	74_37	missense	6.94	67	5	SNP	1.000	T	T	51586330	C	T	51586330	2	4	36	1	0	0	0	0	0	0	0	1	10270	726	26	3		3	NCOA4	10	51586330	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	3204283	51586330	83948417	134	8712											
ANK3	288	genome.wustl.edu	37	chr10	61830581	61830581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctttctggttggaagccTtttcagcagaagctttgggt	6	16	12	7	0	3	1	1	0	2	1	3	2	3	2	1	3	3	4	1	3	2	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:61830581T>C	ENST00000280772.2	-	37	10249	c.10058A>G	c.(10057-10059)aAg>aGg	p.K3353R	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3353					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTTGGAAGCCTTTTCAGCAGA	0.388																																																	0													160	158	159					10																	61830581		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10058A>G	10.37:g.61830581T>C	ENSP00000280772:p.Lys3353Arg		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.K3353R	ENST00000280772.2	37	c.10058	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029270	0.35797	.	.	ENSG00000151150	ENST00000280772	T	0.66099	-0.19	5.42	5.42	0.78866	.	0.000000	0.44097	D	0.000483	T	0.69540	0.3122	L	0.38175	1.15	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.66432	-0.5925	10	0.27082	T	0.32	.	15.4522	0.75282	0.0:0.0:0.0:1.0	.	3353	Q12955	ANK3_HUMAN	R	3353	ENSP00000280772:K3353R	ENSP00000280772:K3353R	K	-	2	0	ANK3	61500587	0.995000	0.38212	0.993000	0.49108	0.985000	0.73830	1.866000	0.39489	2.060000	0.61445	0.459000	0.35465	AAG	ANK3	-	NULL	ENSG00000151150		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	73	0	T	NM_020987		61830581	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	C	C	61830581	T	C	61830581	3	2	36	1	0	0	0	0	1	0	0	0	622	1609	56	4	3416	4	ANK3	10	61830581	Missense_Mutation	SNP	T	TCGA-JY-A6FB-01A-11D-A33E-09	10244251	61830581	73704166	135	8713											
CTNNA3	29119	genome.wustl.edu	37	chr10	68535271	68535271	+	Frame_Shift_Del	DEL	T	T	-																															ttcagggtattactcctttcTttttttccagcctgcaaaga																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:68535271delT	ENST00000433211.2	-	8	1233	c.1059delA	c.(1057-1059)aaafs	p.K353fs	CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.K353fs	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TACTCCTTTCTTTTTTTCCAG	0.358																																																	0													152	148	150					10																	68535271		2203	4300	6503	SO:0001589	frameshift_variant	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1059delA	10.37:g.68535271delT	ENSP00000389714:p.Lys353fs			Frame_Shift_Del	DEL	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.E354fs	ENST00000433211.2	37	c.1059	CCDS7269.1	10																																																																																			CTNNA3	-	pfam_Vinculin/catenin	ENSG00000183230		0.358	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2		0	74	0	T	NM_013266		68535271	-1	tier1		no_errors	ENST00000373744	ensembl	human	known	74_37	frame_shift_del	18.18	54	12	DEL	0.960	-	-	68535271	T	-	68535271	7	5	36	1	0	1	0	1	0	0	0	0	4023	1606	56	0	1672	0	CTNNA3	10	68535271	Frame_Shift_Del	DEL	T	TCGA-JY-A6FB-01A-11D-A33E-09	6704690	68535271	66999476	136	8714											
MYST4	23522	genome.wustl.edu	37	chr10	76781836	76781836	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagcagtgaagaagaagaGgaggaggaggacgaggagga	17	1	21	2	1	0	5	0	1	0	4	0	13	0	11	0	6	1	1	0	6	3	0	rs569172957	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:76781836G>A	ENST00000287239.4	+	16	3708	c.3219G>A	c.(3217-3219)gaG>gaA	p.E1073E	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Silent_p.E781E|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000372724.1_Silent_p.E781E|KAT6B_ENST00000372711.1_Silent_p.E890E|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372725.1_Silent_p.E781E	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1073	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1073E(1)									aagaagaagaggaggaggagg	0.488											OREG0020273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	endometrium(1)											22	23	23					10																	76781836		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3219G>A	10.37:g.76781836G>A		1170	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E1073	ENST00000287239.4	37	c.3219	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.488	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1		0	24	0	G	NM_012330		76781836	1			no_errors	ENST00000287239	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.928	A	A	76781836	G	A	76781836	2	1	36	1	0	0	0	0	0	0	0	1	10143	991	35	3		3	MYST4	10	76781836	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	8246565	76781836	58752911	137	8715											
EXOC6	54536	genome.wustl.edu	37	chr10	94773986	94773986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcctgtgccaggattccagGgggataccctgcagctagca	9	7	13	12	0	0	0	0	0	0	0	1	2	1	2	4	3	6	3	4	3	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:94773986G>T	ENST00000260762.6	+	20	2145	c.2131G>T	c.(2131-2133)Ggg>Tgg	p.G711W	EXOC6_ENST00000443748.2_Missense_Mutation_p.G608W|EXOC6_ENST00000371552.4_Missense_Mutation_p.G706W|EXOC6_ENST00000371547.4_Missense_Mutation_p.G727W	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	711					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGGATTCCAGGGGGATACCCT	0.388																																																	0													93	95	94					10																	94773986		2203	4300	6503	SO:0001583	missense	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"SEC15-like 1 (S. cerevisiae)"	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2131G>T	10.37:g.94773986G>T	ENSP00000260762:p.Gly711Trp		E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.G727W	ENST00000260762.6	37	c.2179	CCDS7424.2	10	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796950	0.90453	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762;ENST00000458552	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.62	5.62	0.85841	.	0.116074	0.64402	D	0.000016	T	0.50565	0.1623	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D	0.76494	0.983;0.999;0.985;0.974;0.992;0.992	P;D;D;D;D;D	0.74023	0.825;0.982;0.949;0.966;0.949;0.949	T	0.48328	-0.9045	10	0.72032	D	0.01	-10.0413	19.653	0.95825	0.0:0.0:1.0:0.0	.	727;608;703;664;711;706	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	W	727;706;608;711;60	ENSP00000360602:G727W;ENSP00000360607:G706W;ENSP00000396206:G608W;ENSP00000260762:G711W;ENSP00000398982:G60W	ENSP00000260762:G711W	G	+	1	0	EXOC6	94763966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.114000	0.94329	2.648000	0.89879	0.557000	0.71058	GGG	EXOC6	-	pfam_Sec15,pirsf_Sec15	ENSG00000138190		0.388	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2		0	65	0	G	NM_019053		94773986	1			no_errors	ENST00000371547	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	94773986	G	T	94773986	3	4	36	1	0	0	0	0	1	0	0	0	5324	1232	43	3	2299	3	EXOC6	10	94773986	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	17992150	94773986	40760761	138	8716											
GOLGA7B	401647	genome.wustl.edu	37	chr10	99619339	99619339	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccagagctggacagccGggtaaggatgcctttttctg	7	9	12	13	1	1	1	0	0	1	1	1	3	1	3	5	3	3	2	5	3	1	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:99619339G>T	ENST00000370602.1	+	2	202	c.137G>T	c.(136-138)cGg>cTg	p.R46L		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	46						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						CTGGACAGCCGGGTAAGGATG	0.493																																																	0													71	71	71					10																	99619339		2203	4300	6503	SO:0001630	splice_region_variant	0			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"chromosome 10 open reading frame 133", "chromosome 10 open reading frame 132", "golgi autoantigen, golgin subfamily a, 7B"	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.138+1G>T	10.37:g.99619339G>T			Q5T4F5	Missense_Mutation	SNP	pfam_Golgin_A_7/ERF4	p.R46L	ENST00000370602.1	37	c.137	CCDS31265.1	10	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807975	0.90707	.	.	ENSG00000155265	ENST00000370602	.	.	.	4.89	4.89	0.63831	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	T	0.75027	0.3794	L	0.56769	1.78	0.80722	D	1	D	0.64830	0.994	D	0.74023	0.982	T	0.70691	-0.4802	9	0.25751	T	0.34	-33.5516	17.8428	0.88720	0.0:0.0:1.0:0.0	.	46	Q2TAP0	GOG7B_HUMAN	L	46	.	ENSP00000359634:R46L	R	+	2	0	GOLGA7B	99609329	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.137000	0.94496	2.566000	0.86566	0.555000	0.69702	CGG	GOLGA7B	-	pfam_Golgin_A_7/ERF4	ENSG00000155265		0.493	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA7B	HGNC	protein_coding	OTTHUMT00000049752.1	-	0	80	0	G	NM_001010917	Missense_Mutation	99619339	1	tier1	-	no_errors	ENST00000370602	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	T	T	99619339	G	T	99619339	5	4	36	1	0	0	0	0	0	0	1	0	6588	1130	39	2	143	2	GOLGA7B	10	99619339	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	4845353	99619339	35915408	139	8717											
CRTAC1	55118	genome.wustl.edu	37	chr10	99655678	99655678	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggacagcggctgagccatGgactctccatgggacaagat	11	6	13	11	2	1	2	0	1	1	1	2	5	1	5	2	4	2	1	2	4	1	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:99655678G>T	ENST00000370597.3	-	10	1636	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	CRTAC1_ENST00000298819.4_Silent_p.S427S|CRTAC1_ENST00000370591.2_Silent_p.S427S	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	427						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGAGCCATGGACTCTCCAT	0.582																																																	0													129	108	115					10																	99655678		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1281C>A	10.37:g.99655678G>T			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.S427	ENST00000370597.3	37	c.1281	CCDS31266.1	10																																																																																			CRTAC1	-	NULL	ENSG00000095713		0.582	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1		0	42	0	G	NM_018058		99655678	-1			no_errors	ENST00000370597	ensembl	human	known	74_37	silent	10.81	32	4	SNP	1.000	T	T	99655678	G	T	99655678	2	4	36	1	0	0	0	0	0	0	0	1	3903	1335	47	3		3	CRTAC1	10	99655678	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	36339	99655678	35879069	140	8718											
OBFC1	79991	genome.wustl.edu	37	chr10	105659926	105659927	+	Frame_Shift_Ins	INS	-	-	TGTA																															ttttctgctcaatggtctctINStgtagcttcttaagttgtga																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:105659926_105659927insTGTA	ENST00000224950.3	-	5	517_518	c.350_351insTACA	c.(349-351)caafs	p.Q117fs	OBFC1_ENST00000369764.1_Frame_Shift_Ins_p.Q117fs|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	117					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CAATGGTCTCTTGTAGCTTCTT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.347_350dupTACA	10.37:g.105659927_105659930dupTGTA	ENSP00000224950:p.Gln117fs		D3DR99|Q5TCZ0	Frame_Shift_Ins	INS	pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1	p.Q117fs	ENST00000224950.3	37	c.351_350	CCDS7552.1	10																																																																																			OBFC1	-	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1	ENSG00000107960		0.46	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	HGNC	protein_coding	OTTHUMT00000050174.1		0	48	0	-	NM_024928		105659927	-1	tier1		no_errors	ENST00000224950	ensembl	human	known	74_37	frame_shift_ins	20.31	51	13	INS	1.000:1.000	TGTA	TGTA	105659927	-	TGTA	105659926	7	5	36	1	0	1	1	0	0	0	0	0	10846	1606	56	0	779	0	OBFC1	10	105659926	Frame_Shift_Ins	INS	-	TCGA-JY-A6FB-01A-11D-A33E-09	6004248	105659926	29874821	141	8719											
TACC2	10579	genome.wustl.edu	37	chr10	123954677	123954677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggtcagcacacagccacCcccggaagaaccaggtaacc	13	2	10	16	2	1	1	1	0	0	1	1	3	1	2	5	3	4	2	5	3	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:123954677C>A	ENST00000369005.1	+	8	6297	c.5957C>A	c.(5956-5958)cCc>cAc	p.P1986H	TACC2_ENST00000513429.1_Missense_Mutation_p.P132H|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.P132H|TACC2_ENST00000515273.1_Missense_Mutation_p.P1990H|TACC2_ENST00000360561.3_Missense_Mutation_p.P64H|TACC2_ENST00000368999.1_Missense_Mutation_p.P64H|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369004.3_Missense_Mutation_p.P64H|TACC2_ENST00000453444.2_Missense_Mutation_p.P1990H|TACC2_ENST00000260733.3_Missense_Mutation_p.P64H|TACC2_ENST00000515603.1_Missense_Mutation_p.P1941H|TACC2_ENST00000334433.3_Missense_Mutation_p.P1986H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1986	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACACAGCCACCCCCGGAAGAA	0.637																																																	0													44	50	48					10																	123954677		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5957C>A	10.37:g.123954677C>A	ENSP00000358001:p.Pro1986His		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.P1986H	ENST00000369005.1	37	c.5957	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392697	0.42410	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.09163	3.97;3.41;3.96;3.98;3.97;3.41;3.96;3.39;3.4;3.39;3.4;3.01	4.75	3.84	0.44239	.	0.270973	0.19952	N	0.102410	T	0.25195	0.0612	L	0.60455	1.87	0.26162	N	0.97999	D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.996;0.999;0.99;0.995;0.995;0.999	D;D;P;D;P;P;D;D	0.65010	0.922;0.931;0.759;0.931;0.787;0.839;0.922;0.931	T	0.02743	-1.1116	10	0.87932	D	0	-1.1395	10.6317	0.45541	0.0:0.9068:0.0:0.0932	.	81;1990;64;1941;64;64;132;1986	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;TACC2_HUMAN	H	1986;132;1990;1941;1986;132;1990;1976;64;64;64;64;81	ENSP00000358001:P1986H;ENSP00000425062:P132H;ENSP00000424467:P1990H;ENSP00000427618:P1941H;ENSP00000334280:P1986H;ENSP00000350701:P132H;ENSP00000395048:P1990H;ENSP00000353763:P64H;ENSP00000357995:P64H;ENSP00000422815:P64H;ENSP00000260733:P64H;ENSP00000420967:P81H	ENSP00000260733:P64H	P	+	2	0	TACC2	123944667	0.973000	0.33851	0.174000	0.22961	0.349000	0.29174	3.601000	0.54059	0.981000	0.38548	0.556000	0.70494	CCC	TACC2	-	NULL	ENSG00000138162		0.637	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0	71	0	C			123954677	1			no_errors	ENST00000334433	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.933	A	A	123954677	C	A	123954677	3	1	36	1	0	0	0	0	1	0	0	0	15549	623	22	3	6055	3	TACC2	10	123954677	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	18294751	123954677	11580070	142	8720											
ADAM12	8038	genome.wustl.edu	37	chr10	127753405	127753405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcgtgacacactgctgctCgtgagtctggcagatgccat	8	9	13	11	2	1	3	0	2	1	1	2	4	1	3	1	1	4	3	1	1	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr10:127753405C>T	ENST00000368679.4	-	14	1897	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.E530K	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	530	Cys-rich.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CACTGCTGCTCGTGAGTCTGG	0.632																																																	0													110	76	87					10																	127753405		2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1588G>A	10.37:g.127753405C>T	ENSP00000357668:p.Glu530Lys		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E530K	ENST00000368679.4	37	c.1588	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.710055	0.96821	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.21734	1.99;1.99	5.11	5.11	0.69529	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.45285	1.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.74348	0.945;0.909;0.909;0.909;0.983	T	0.16364	-1.0405	10	0.66056	D	0.02	.	18.7396	0.91768	0.0:1.0:0.0:0.0	.	527;527;530;527;530	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	K	530	ENSP00000357668:E530K;ENSP00000357665:E530K	ENSP00000357665:E530K	E	-	1	0	ADAM12	127743395	1.000000	0.71417	0.968000	0.41197	0.985000	0.73830	4.693000	0.61753	2.654000	0.90174	0.650000	0.86243	GAG	ADAM12	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000148848		0.632	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	-	0	39	0	C			127753405	-1	tier1	-	no_errors	ENST00000368679	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	T	T	127753405	C	T	127753405	3	4	36	1	0	0	0	0	1	0	0	0	236	893	31	1	1289	1	ADAM12	10	127753405	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	3798728	127753405	7781342	143	8721											
TH	7054	genome.wustl.edu	37	chr11	2192950	2192950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctctgcctgcttggCgtccagctcagacacggccc	5	8	12	16	2	2	1	1	0	1	1	3	2	3	1	4	3	3	2	4	3	0	1	rs201081519		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:2192950C>T	ENST00000381178.1	-	1	85	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	TH_ENST00000352909.3_Missense_Mutation_p.A23T|MIR4686_ENST00000584128.1_RNA|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000333684.5_Missense_Mutation_p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	23					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCTGCTTGGCGTCCAGCTCA	0.697																																																	0									THR/ALA,THR/ALA,THR/ALA	2,4402	4.2+/-10.8	0,2,2200	70	62	65		67,67,67	1.4	1	11		65	0,8598		0,0,4299	yes	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	58,58,58	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	23/498,23/529,23/525	2192950	2,13000	2202	4299	6501	SO:0001583	missense	0			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.67G>A	11.37:g.2192950C>T	ENSP00000370571:p.Ala23Thr		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.A23T	ENST00000381178.1	37	c.67	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247129	0.80024	4.54E-4	0.0	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99527	-6.02;-6.02;-6.09;-5.7	3.87	1.4	0.22301	Tyrosine hydroxylase, conserved site (1);	0.703054	0.13153	N	0.409711	D	0.96713	0.8927	L	0.27053	0.805	0.21105	N	0.999789	B;B;B;B;B;B	0.17268	0.012;0.008;0.008;0.021;0.017;0.008	B;B;B;B;B;B	0.12837	0.006;0.002;0.002;0.004;0.008;0.004	D	0.93830	0.7127	10	0.46703	T	0.11	-10.3206	1.9507	0.03366	0.2867:0.4543:0.1408:0.1182	.	23;23;23;23;23;23	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	T	23	ENSP00000370571:A23T;ENSP00000370567:A23T;ENSP00000325951:A23T;ENSP00000328814:A23T	ENSP00000325831:A23T	A	-	1	0	TH	2149526	.	.	1.000000	0.80357	0.966000	0.64601	.	.	0.728000	0.32382	0.550000	0.68814	GCC	TH	-	pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like	ENSG00000180176		0.697	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	-	0	17	0	C	NM_000360		2192950	-1	tier1	rs201081519	no_errors	ENST00000381178	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.999	T	T	2192950	C	T	2192950	3	4	36	1	0	0	0	0	1	0	0	0	15885	768	27	1	1575	1	TH	11	2192950	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09		2192950	132813566	144	8722											
OR4C15	81309	genome.wustl.edu	37	chr11	55322152	55322152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctgtccttcctggatGcgtgcttctcatctgtcatc	3	16	8	14	1	3	0	2	0	2	0	8	1	6	1	3	1	2	2	3	1	0	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:55322152G>T	ENST00000314644.2	+	1	370	c.370G>T	c.(370-372)Gcg>Tcg	p.A124S		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTTCCTGGATGCGTGCTTCTC	0.473										HNSCC(20;0.049)																																							0													190	154	166					11																	55322152		2201	4296	6497	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.370G>T	11.37:g.55322152G>T	ENSP00000324958:p.Ala124Ser		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A124S	ENST00000314644.2	37	c.370	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	G	12.64	2.000059	0.35320	.	.	ENSG00000181939	ENST00000314644	T	0.01347	4.99	5.12	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01905	0.0060	L	0.45352	1.415	0.23528	N	0.997484	B	0.32338	0.365	B	0.29077	0.098	T	0.42899	-0.9424	9	0.54805	T	0.06	.	11.7269	0.51714	0.0881:0.0:0.9119:0.0	.	70	Q8NGM1	OR4CF_HUMAN	S	124	ENSP00000324958:A124S	ENSP00000324958:A124S	A	+	1	0	OR4C15	55078728	0.000000	0.05858	0.994000	0.49952	0.588000	0.36517	-1.889000	0.01614	2.665000	0.90641	0.385000	0.25706	GCG	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181939		0.473	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1		0	46	0	G	NM_001001920		55322152	1			no_errors	ENST00000314644	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.955	T	T	55322152	G	T	55322152	3	4	36	1	0	0	0	0	1	0	0	0	11087	1319	46	3	372	3	OR4C15	11	55322152	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	53129202	55322152	79684364	145	8723											
CD5	921	genome.wustl.edu	37	chr11	60886405	60886405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccccagaagacaacacCtccaacgacaaggcccccgc	15	1	7	18	2	0	3	0	0	0	3	1	4	1	3	6	1	3	0	6	1	5	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:60886405C>A	ENST00000347785.3	+	4	585	c.419C>A	c.(418-420)cCt>cAt	p.P140H		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	140					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AAGACAACACCTCCAACGACA	0.597																																																	0													126	109	115					11																	60886405		2203	4299	6502	SO:0001583	missense	0			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.419C>A	11.37:g.60886405C>A	ENSP00000342681:p.Pro140His		A0N0P4|A8K9I3	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Tcell_CD5,prints_SRCR	p.P140H	ENST00000347785.3	37	c.419	CCDS8000.1	11	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874455	0.51695	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.03831	4.6;3.79	4.43	4.43	0.53597	Speract/scavenger receptor-related (1);	0.295993	0.24117	N	0.041388	T	0.17916	0.0430	M	0.75447	2.3	0.09310	N	0.999995	D	0.76494	0.999	D	0.64042	0.921	T	0.01208	-1.1418	10	0.66056	D	0.02	-5.8814	12.7393	0.57241	0.0:1.0:0.0:0.0	.	140	P06127	CD5_HUMAN	H	140	ENSP00000342681:P140H;ENSP00000440899:P140H	ENSP00000342681:P140H	P	+	2	0	CD5	60642981	0.016000	0.18221	0.046000	0.18839	0.022000	0.10575	2.104000	0.41815	2.459000	0.83118	0.609000	0.83330	CCT	CD5	-	superfamily_Srcr_rcpt-rel,prints_Tcell_CD5	ENSG00000110448		0.597	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5	HGNC	protein_coding	OTTHUMT00000396465.2	-	0	42	0	C	NM_014207		60886405	1	tier1	-	no_errors	ENST00000347785	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.116	A	A	60886405	C	A	60886405	3	1	36	1	0	0	0	0	1	0	0	0	3028	681	24	3	433	3	CD5	11	60886405	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	5564253	60886405	74120111	146	8724											
GANAB	23193	genome.wustl.edu	37	chr11	62406908	62406908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccagcaaggctcggtatgGagagaggcctggccgtatgc	8	7	16	10	2	0	1	0	0	0	1	2	3	1	2	3	5	2	4	3	5	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:62406908G>T	ENST00000356638.3	-	3	191	c.175C>A	c.(175-177)Cca>Aca	p.P59T	GANAB_ENST00000346178.4_Missense_Mutation_p.P59T|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	59					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCTCGGTATGGAGAGAGGCCT	0.542																																					Melanoma(23;1005 1074 15747 18937)												0													98	90	93					11																	62406908		2202	4299	6501	SO:0001583	missense	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.175C>A	11.37:g.62406908G>T	ENSP00000349053:p.Pro59Thr		A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom	p.P59T	ENST00000356638.3	37	c.175	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621409	0.28889	.	.	ENSG00000089597	ENST00000346178;ENST00000356638	D;D	0.89196	-2.48;-2.34	4.79	4.79	0.61399	Glycoside hydrolase-type carbohydrate-binding (1);	0.057671	0.64402	D	0.000001	D	0.83732	0.5318	L	0.46819	1.47	0.80722	D	1	B;B	0.22211	0.01;0.066	B;B	0.21151	0.005;0.033	T	0.78718	-0.2095	10	0.30078	T	0.28	-10.0114	10.4705	0.44633	0.0:0.0:0.8062:0.1938	.	59;59	Q14697;Q14697-2	GANAB_HUMAN;.	T	59	ENSP00000340466:P59T;ENSP00000349053:P59T	ENSP00000340466:P59T	P	-	1	0	GANAB	62163484	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	2.826000	0.48104	2.496000	0.84212	0.556000	0.70494	CCA	GANAB	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000089597		0.542	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1		0	67	0	G	NM_198334		62406908	-1			no_errors	ENST00000346178	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	62406908	G	T	62406908	3	4	36	1	0	0	0	0	1	0	0	0	6258	1174	41	3	2817	3	GANAB	11	62406908	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1520503	62406908	72599608	147	8725											
SLC22A24	283238	genome.wustl.edu	37	chr11	62886453	62886453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatgtgccagtcctgaatgGcaaaagccagccctcctagg	11	8	10	12	0	0	1	0	1	0	0	2	1	2	1	5	2	3	1	5	2	5	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:62886453G>A	ENST00000417740.1	-	4	1202	c.761C>T	c.(760-762)gCc>gTc	p.A254V	SLC22A24_ENST00000326192.5_Missense_Mutation_p.A254V	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	254					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						GTCCTGAATGGCAAAAGCCAG	0.468																																																	0													181	157	164					11																	62886453		692	1591	2283	SO:0001583	missense	0				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.761C>T	11.37:g.62886453G>A	ENSP00000396586:p.Ala254Val			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A254V	ENST00000417740.1	37	c.761		11	.	.	.	.	.	.	.	.	.	.	G	8.243	0.807288	0.16467	.	.	ENSG00000197658	ENST00000417740;ENST00000531535;ENST00000326192	T;T	0.59083	0.29;0.35	3.86	-5.19	0.02832	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.438597	0.24035	N	0.042141	T	0.28699	0.0711	N	0.16567	0.415	0.09310	N	0.99999	B;B	0.22604	0.047;0.072	B;B	0.29267	0.085;0.1	T	0.13335	-1.0513	10	0.22706	T	0.39	.	1.9062	0.03278	0.3659:0.3345:0.181:0.1185	.	254;254	Q8N4F4;C9JC66	S22AO_HUMAN;.	V	254	ENSP00000396586:A254V;ENSP00000321549:A254V	ENSP00000321549:A254V	A	-	2	0	SLC22A24	62643029	0.002000	0.14202	0.233000	0.24025	0.084000	0.17831	-2.853000	0.00731	-0.595000	0.05828	-0.412000	0.06146	GCC	SLC22A24	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197658		0.468	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	-	0	46	0	G	NM_173586		62886453	-1	tier1	-	no_errors	ENST00000326192	ensembl	human	known	74_37	missense	54.55	20	24	SNP	0.445	A	A	62886453	G	A	62886453	3	1	36	1	0	0	0	0	1	0	0	0	14498	1203	42	3	920	3	SLC22A24	11	62886453	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	479545	62886453	72120063	148	8726											
FOSL1	8061	genome.wustl.edu	37	chr11	65660497	65660497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggtgaaaggagttaGggagggtgtggtcatgagtg	8	9	22	2	0	1	2	1	2	0	0	1	4	1	4	0	6	0	2	0	6	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:65660497G>T	ENST00000312562.2	-	4	862	c.676C>A	c.(676-678)Cta>Ata	p.L226I	FOSL1_ENST00000448083.2_Missense_Mutation_p.L124I|FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000531493.1_Missense_Mutation_p.L190I	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	226					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		AAAGGAGTTAGGGAGGGTGTG	0.612																																																	0													48	47	48					11																	65660497		2201	4296	6497	SO:0001583	missense	0			BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"basic leucine zipper proteins"	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.676C>A	11.37:g.65660497G>T	ENSP00000310170:p.Leu226Ile		B4DR11|Q6FG51	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.L226I	ENST00000312562.2	37	c.676	CCDS8121.1	11	.	.	.	.	.	.	.	.	.	.	G	9.961	1.222736	0.22457	.	.	ENSG00000175592	ENST00000448083;ENST00000312562;ENST00000531493;ENST00000534222	T	0.77750	-1.12	4.96	4.96	0.65561	.	0.073862	0.56097	D	0.000033	T	0.55545	0.1927	N	0.08118	0	0.80722	D	1	P;P	0.46142	0.873;0.799	B;B	0.40101	0.319;0.17	T	0.56709	-0.7934	10	0.14252	T	0.57	-14.6529	10.9061	0.47081	0.0:0.0:0.8124:0.1876	.	124;226	B4DR11;P15407	.;FOSL1_HUMAN	I	124;226;190;6	ENSP00000310170:L226I	ENSP00000310170:L226I	L	-	1	2	FOSL1	65417073	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	2.157000	0.42320	2.282000	0.76494	0.555000	0.69702	CTA	FOSL1	-	NULL	ENSG00000175592		0.612	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL1	HGNC	protein_coding	OTTHUMT00000391168.2		0	49	0	G	NM_005438		65660497	-1			no_errors	ENST00000312562	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	65660497	G	T	65660497	3	4	36	1	0	0	0	0	1	0	0	0	6009	991	35	3	143	3	FOSL1	11	65660497	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2774044	65660497	69346019	149	8727											
CTSF	8722	genome.wustl.edu	37	chr11	66335492	66335492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggggagccggcacaccatgGggtcgttgcagggtggctcc	5	6	18	12	3	0	0	0	0	0	0	2	1	1	1	3	7	2	4	3	7	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:66335492G>T	ENST00000310325.5	-	2	384	c.275C>A	c.(274-276)cCc>cAc	p.P92H	CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	92					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCACACCATGGGGTCGTTGCA	0.652																																																	0													48	55	53					11																	66335492		2200	4295	6495	SO:0001583	missense	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.275C>A	11.37:g.66335492G>T	ENSP00000310832:p.Pro92His		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.P92H	ENST00000310325.5	37	c.275	CCDS8144.1	11	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640402	0.67244	.	.	ENSG00000174080	ENST00000310325	T	0.80738	-1.41	4.45	2.56	0.30785	.	0.247775	0.33732	N	0.004610	T	0.73102	0.3544	L	0.29908	0.895	0.30658	N	0.754707	D	0.63880	0.993	P	0.49999	0.628	T	0.71689	-0.4517	10	0.51188	T	0.08	.	7.0641	0.25141	0.2086:0.0:0.7914:0.0	.	92	Q9UBX1	CATF_HUMAN	H	92	ENSP00000310832:P92H	ENSP00000310832:P92H	P	-	2	0	CTSF	66092068	0.972000	0.33761	1.000000	0.80357	0.851000	0.48451	1.314000	0.33597	0.609000	0.30018	0.462000	0.41574	CCC	CTSF	-	NULL	ENSG00000174080		0.652	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1		0	76	0	G	NM_003793		66335492	-1			no_errors	ENST00000310325	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	66335492	G	T	66335492	3	4	36	1	0	0	0	0	1	0	0	0	4043	1232	43	3	1227	3	CTSF	11	66335492	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	674995	66335492	68671024	150	8728											
RSF1	51773	genome.wustl.edu	37	chr11	77386180	77386180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcctgctctgcctcattgGccgagaggggtgtcgcctca	5	9	13	14	3	3	1	2	0	1	1	4	2	3	1	4	3	2	1	4	3	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:77386180G>A	ENST00000308488.6	-	14	3765	c.3463C>T	c.(3463-3465)Cca>Tca	p.P1155S	RSF1_ENST00000360355.2_Missense_Mutation_p.P1124S|RSF1_ENST00000480887.1_Missense_Mutation_p.P903S			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1155	Arg-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGCCTCATTGGCCGAGAGGGG	0.473																																																	0													121	117	118					11																	77386180		2200	4292	6492	SO:0001583	missense	0			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3463C>T	11.37:g.77386180G>A	ENSP00000311513:p.Pro1155Ser		Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P1155S	ENST00000308488.6	37	c.3463	CCDS8253.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693186	0.88735	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000531026	D;D;D;D	0.92149	-2.21;-2.41;-2.25;-2.98	4.97	4.97	0.65823	.	0.000000	0.51477	D	0.000093	D	0.93278	0.7858	L	0.42245	1.32	0.43874	D	0.996488	D	0.76494	0.999	P	0.61397	0.888	D	0.91468	0.5194	10	0.26408	T	0.33	-8.1426	18.0282	0.89275	0.0:0.0:1.0:0.0	.	1155	Q96T23	RSF1_HUMAN	S	1155;903;1124;264	ENSP00000311513:P1155S;ENSP00000434509:P903S;ENSP00000353511:P1124S;ENSP00000433603:P264S	ENSP00000311513:P1155S	P	-	1	0	RSF1	77063828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.479000	0.60236	2.575000	0.86900	0.650000	0.86243	CCA	RSF1	-	NULL	ENSG00000048649		0.473	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	-	0	58	0	G	NM_016578		77386180	-1	tier1	-	no_errors	ENST00000308488	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	77386180	G	A	77386180	3	1	36	1	0	0	0	0	1	0	0	0	13744	1203	42	3	874	3	RSF1	11	77386180	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	11050688	77386180	57620336	151	8729											
GRIK4	2900	genome.wustl.edu	37	chr11	120744855	120744855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccggagccaagagatcggCgtgaagcccttgtcctgcgg	9	6	14	12	4	0	2	0	1	0	1	2	4	1	3	4	3	4	0	4	3	3	1	rs111523175		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:120744855C>T	ENST00000527524.2	+	10	1274	c.987C>T	c.(985-987)ggC>ggT	p.G329G	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Silent_p.G329G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	329					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		AAGAGATCGGCGTGAAGCCCT	0.647													c|||	1	0.000199681	0	0	5008	,	,		18044	0		0.001	False		,,,				2504	0																0													60	53	55					11																	120744855		2203	4299	6502	SO:0001819	synonymous_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.987C>T	11.37:g.120744855C>T			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G329	ENST00000527524.2	37	c.987	CCDS8433.1	11																																																																																			GRIK4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000149403		0.647	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	46	0	C	NM_014619		120744855	1	tier1	rs111523175	no_errors	ENST00000527524	ensembl	human	known	74_37	silent	73.91	6	17	SNP	0.942	T	T	120744855	C	T	120744855	2	4	36	1	0	0	0	0	0	0	0	1	6803	755	27	1		1	GRIK4	11	120744855	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	43358675	120744855	14261661	152	8730											
KIRREL3	84623	genome.wustl.edu	37	chr11	126310353	126310353	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcactcacgatgcggtcCggcggcggcgtgctccggat	5	6	17	13	7	1	0	1	0	0	0	3	3	3	2	2	6	3	2	2	6	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:126310353C>A	ENST00000525144.2	-	11	1593	c.1344G>T	c.(1342-1344)ccG>ccT	p.P448P	KIRREL3_ENST00000525704.2_Silent_p.P448P|KIRREL3_ENST00000529097.2_Silent_p.P448P|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	448	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGATGCGGTCCGGCGGCGGCG	0.677																																																	0													14	17	16					11																	126310353		1884	4090	5974	SO:0001819	synonymous_variant	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1344G>T	11.37:g.126310353C>A			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P448	ENST00000525144.2	37	c.1344	CCDS53723.1	11																																																																																			KIRREL3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000149571		0.677	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2		0	51	0	C	NM_032531		126310353	-1			no_errors	ENST00000525144	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.044	A	A	126310353	C	A	126310353	2	1	36	1	0	0	0	0	0	0	0	1	8353	639	23	2		2	KIRREL3	11	126310353	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	5565498	126310353	8696163	153	8731											
ADAMTS8	11095	genome.wustl.edu	37	chr11	130289037	130289037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagttgcagaagttacGcagtgtaagccccccattgt	9	10	10	12	1	0	1	0	0	0	1	0	1	0	1	4	0	4	5	4	0	3	4	rs369424623		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr11:130289037G>A	ENST00000257359.6	-	2	1577	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	291	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGAAGTTACGCAGTGTAAGC	0.562																																																	0								G	CYS/ARG	0,4034		0,0,2017	151	161	158		871	3.6	1	11		158	2,8362		0,2,4180	no	missense	ADAMTS8	NM_007037.4	180	0,2,6197	AA,AG,GG		0.0239,0.0,0.0161	probably-damaging	291/890	130289037	2,12396	2017	4182	6199	SO:0001583	missense	0			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.871C>T	11.37:g.130289037G>A	ENSP00000257359:p.Arg291Cys		Q9NZS0	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.R291C	ENST00000257359.6	37	c.871	CCDS41732.1	11	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847054	0.71603	0.0	2.39E-4	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.87179	-2.22	5.62	3.58	0.41010	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.93644	0.7970	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94644	0.7833	10	0.87932	D	0	.	14.1239	0.65208	0.0:0.0:0.7269:0.2731	.	291	Q9UP79	ATS8_HUMAN	C	291;320	ENSP00000257359:R291C	ENSP00000257359:R291C	R	-	1	0	ADAMTS8	129794247	0.996000	0.38824	1.000000	0.80357	0.897000	0.52465	1.887000	0.39698	1.305000	0.44909	0.655000	0.94253	CGT	ADAMTS8	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134917		0.562	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1	-	0	83	0	G	NM_007037		130289037	-1	tier1	-	no_errors	ENST00000257359	ensembl	human	known	74_37	missense	53.57	26	30	SNP	0.999	A	A	130289037	G	A	130289037	3	1	36	1	0	0	0	0	1	0	0	0	272	1087	38	1	1830	1	ADAMTS8	11	130289037	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3978684	130289037	4717479	154	8732											
CACNA1C	775	genome.wustl.edu	37	chr12	2778185	2778185	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtcaggacggccctGaggatcaaaacagaaggtaa	13	5	13	10	1	2	2	2	1	0	1	2	4	2	4	2	5	1	1	2	5	4	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:2778185G>T	ENST00000347598.4	+	40	4854	c.4854G>T	c.(4852-4854)ctG>ctT	p.L1618L	CACNA1C_ENST00000335762.5_Silent_p.L1595L|CACNA1C_ENST00000399629.1_Silent_p.L1587L|CACNA1C_ENST00000399638.1_Silent_p.L1598L|CACNA1C_ENST00000399649.1_Silent_p.L1557L|CACNA1C_ENST00000327702.7_Silent_p.L1570L|CACNA1C_ENST00000399601.1_Silent_p.L1570L|CACNA1C_ENST00000399595.1_Silent_p.L1559L|CACNA1C_ENST00000399621.1_Silent_p.L1570L|CACNA1C_ENST00000399617.1_Silent_p.L1570L|CACNA1C_ENST00000399644.1_Silent_p.L1570L|CACNA1C_ENST00000399634.1_Silent_p.L1570L|CACNA1C_ENST00000399591.1_Silent_p.L1559L|CACNA1C_ENST00000406454.3_Silent_p.L1570L|CACNA1C_ENST00000399641.1_Silent_p.L1570L|CACNA1C_ENST00000402845.3_Silent_p.L1570L|CACNA1C_ENST00000399597.1_Silent_p.L1570L|CACNA1C_ENST00000344100.3_Silent_p.L1592L|CACNA1C_ENST00000399655.1_Silent_p.L1570L|CACNA1C_ENST00000399637.1_Silent_p.L1570L|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399603.1_Silent_p.L1570L|CACNA1C_ENST00000399606.1_Silent_p.L1590L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1618					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGACGGCCCTGAGGATCAAAA	0.577																																																	0													109	113	111					12																	2778185		2174	4294	6468	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4854G>T	12.37:g.2778185G>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L1570	ENST00000347598.4	37	c.4710	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	62	0	G	NM_000719		2778185	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	T	T	2778185	G	T	2778185	2	4	36	1	0	0	0	0	0	0	0	1	2547	1277	45	3		3	CACNA1C	12	2778185	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		2778185	131073710	155	8733											
LPCAT3	10162	genome.wustl.edu	37	chr12	7088683	7088683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgtgggggctgagcaGtgtgtagcccactaggtaga	8	10	17	6	0	0	3	0	2	0	1	0	3	0	3	1	3	2	4	1	3	3	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:7088683G>T	ENST00000261407.4	-	7	821	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	246					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						GGGCTGAGCAGTGTGTAGCCC	0.512																																																	0													128	104	112					12																	7088683		2203	4300	6503	SO:0001583	missense	0			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.736C>A	12.37:g.7088683G>T	ENSP00000261407:p.Leu246Met		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	pfam_MBOAT_fam	p.L246M	ENST00000261407.4	37	c.736	CCDS8572.1	12	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294202	0.40594	.	.	ENSG00000111684	ENST00000261407	T	0.73363	-0.74	5.49	4.58	0.56647	.	0.309234	0.31624	N	0.007325	T	0.69223	0.3087	M	0.72118	2.19	0.36778	D	0.884198	B	0.31125	0.309	B	0.24701	0.055	T	0.72956	-0.4134	10	0.52906	T	0.07	-13.8226	8.7571	0.34652	0.0825:0.4375:0.48:0.0	.	246	Q6P1A2	MBOA5_HUMAN	M	246	ENSP00000261407:L246M	ENSP00000261407:L246M	L	-	1	2	LPCAT3	6958944	0.336000	0.24757	0.979000	0.43373	0.985000	0.73830	0.614000	0.24314	1.267000	0.44247	0.655000	0.94253	CTG	LPCAT3	-	pfam_MBOAT_fam	ENSG00000111684		0.512	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT3	HGNC	protein_coding	OTTHUMT00000401812.1	-	0	40	0	G	NM_005768		7088683	-1	tier1	-	no_errors	ENST00000261407	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.598	T	T	7088683	G	T	7088683	3	4	36	1	0	0	0	0	1	0	0	0	8947	1020	36	3	751	3	LPCAT3	12	7088683	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	4310498	7088683	126763212	156	8734											
C12orf35	55196	genome.wustl.edu	37	chr12	32136925	32136925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctaacgatacgtgctcGtcagctgctattcaggagga	11	9	11	10	3	2	0	2	0	0	0	3	3	2	2	0	2	6	4	0	2	3	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:32136925G>A	ENST00000312561.4	+	4	3450	c.3036G>A	c.(3034-3036)tcG>tcA	p.S1012S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1012																	ATACGTGCTCGTCAGCTGCTA	0.403																																																	0													58	56	56					12																	32136925		2203	4299	6502	SO:0001819	synonymous_variant	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3036G>A	12.37:g.32136925G>A			B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	NULL	p.S1012	ENST00000312561.4	37	c.3036	CCDS8725.2	12																																																																																			KIAA1551	-	NULL	ENSG00000174718		0.403	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	48	0	G	NM_018169		32136925	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.000	A	A	32136925	G	A	32136925	2	1	36	1	0	0	0	0	0	0	0	1	1687	1132	40	1		1	C12orf35	12	32136925	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	25048242	32136925	101714970	157	8735											
LASS5	91012	genome.wustl.edu	37	chr12	50528336	50528336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatcctcacctttcccCtgatcaaggctttcaaagca	9	13	4	15	0	4	1	4	1	0	0	6	1	6	1	4	1	1	2	4	1	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:50528336C>A	ENST00000317551.6	-	9	1146	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M	CERS5_ENST00000422340.2_Missense_Mutation_p.R283M	NM_147190.2	NP_671723.1	Q8N5B7	CERS5_HUMAN	ceramide synthase 5	341					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CACCTTTCCCCTGATCAAGGC	0.493																																																	0													168	160	163					12																	50528336		2203	4300	6503	SO:0001583	missense	0				CCDS8801.1, CCDS61120.1	12q13.12	2014-09-04	2011-07-08	2011-07-08	ENSG00000139624			"Homeoboxes / CERS class"	23749	protein-coding gene	gene with protein product		615335	"LAG1 longevity assurance homolog 5 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 5"	LASS5			Standard	NM_147190		Approved	Trh4, MGC45411, FLJ25304	uc001rwd.4	Q8N5B7	OTTHUMG00000169819	ENST00000317551.6:c.1022G>T	12.37:g.50528336C>A	ENSP00000325485:p.Arg341Met		B4DV54	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.R341M	ENST00000317551.6	37	c.1022	CCDS8801.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.70|19.70	3.875783|3.875783	0.72180|0.72180	.|.	.|.	ENSG00000139624|ENSG00000139624	ENST00000553122|ENST00000551005;ENST00000317551;ENST00000422340	.|T;T;T	.|0.24538	.|1.85;2.86;2.67	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.055509	.|0.64402	.|D	.|0.000002	T|T	0.51312|0.51312	0.1667|0.1667	M|M	0.78344|0.78344	2.41|2.41	0.58432|0.58432	D|D	0.999995|0.999995	.|D;B;D	.|0.76494	.|0.999;0.088;0.994	.|P;B;D	.|0.63597	.|0.827;0.07;0.916	T|T	0.47433|0.47433	-0.9118|-0.9118	5|10	.|0.39692	.|T	.|0.17	-5.2415|-5.2415	18.9053|18.9053	0.92458|0.92458	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|283;341;260	.|B4DV54;Q8N5B7;F8W0U5	.|.;CERS5_HUMAN;.	W|M	71|260;341;283	.|ENSP00000447556:R260M;ENSP00000325485:R341M;ENSP00000389050:R283M	.|ENSP00000325485:R341M	G|R	-|-	1|2	0|0	CERS5|CERS5	48814603|48814603	0.597000|0.597000	0.26874|0.26874	0.998000|0.998000	0.56505|0.56505	0.898000|0.898000	0.52572|0.52572	1.937000|1.937000	0.40193|0.40193	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GGG|AGG	CERS5	-	pirsf_Longevity_assurance_LAG1_LAC1	ENSG00000139624		0.493	CERS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CERS5	HGNC	protein_coding	OTTHUMT00000406069.3	-	0	79	0	C	NM_147190		50528336	-1	tier1	-	no_errors	ENST00000317551	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.983	A	A	50528336	C	A	50528336	3	1	36	1	0	0	0	0	1	0	0	0	8670	681	24	3	164	3	LASS5	12	50528336	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	18391411	50528336	83323559	158	8736											
LIMA1	51474	genome.wustl.edu	37	chr12	50616100	50616100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctttggctccagaagcagCgtggcttgtcacttcagcag	8	10	12	11	1	2	1	2	0	0	1	3	1	3	1	1	2	4	5	1	2	1	3	rs146061384		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:50616100C>T	ENST00000341247.4	-	4	483	c.334G>A	c.(334-336)Gct>Act	p.A112T	LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.A112T|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552008.1_5'Flank	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	112					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.A112T(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAGAAGCAGCGTGGCTTGTC	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA,,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	211	156	175		334,,334	-10.5	0	12	dbSNP_134	175	0,8600		0,0,4300	no	missense,utr-5,missense	LIMA1	NM_001113546.1,NM_001113547.1,NM_016357.4	58,,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,,benign	112/761,,112/760	50616100	1,13005	2203	4300	6503	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.334G>A	12.37:g.50616100C>T	ENSP00000340184:p.Ala112Thr		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A112T	ENST00000341247.4	37	c.334	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.152724	0.01700	2.27E-4	0.0	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691	D;T	0.84516	-1.86;-1.12	5.65	-10.5	0.00291	.	1.190080	0.05873	N	0.624944	T	0.51822	0.1697	N	0.02539	-0.55	0.24168	N	0.995635	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50558	-0.8814	10	0.07990	T	0.79	.	1.589	0.02650	0.2015:0.3405:0.2276:0.2303	.	121;112	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	T	112	ENSP00000378400:A112T;ENSP00000340184:A112T	ENSP00000340184:A112T	A	-	1	0	LIMA1	48902367	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.574000	0.05868	-1.498000	0.01824	-1.202000	0.01658	GCT	LIMA1	-	NULL	ENSG00000050405		0.552	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2		0	62	0	C	NM_016357		50616100	-1			no_errors	ENST00000394943	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.000	T	T	50616100	C	T	50616100	3	4	36	1	0	0	0	0	1	0	0	0	8825	768	27	1	1980	1	LIMA1	12	50616100	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	87764	50616100	83235795	159	8737											
AAAS	8086	genome.wustl.edu	37	chr12	53709127	53709127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaacttacagacagatGggggaacagggacccatgga	15	4	13	9	0	0	2	0	0	0	2	0	5	0	5	2	4	4	0	2	4	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:53709127G>T	ENST00000209873.4	-	4	556	c.391C>A	c.(391-393)Cat>Aat	p.H131N	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.H131N|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	131					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						ACAGACAGATGGGGGAACAGG	0.582																																																	0													52	51	51					12																	53709127		2203	4300	6503	SO:0001583	missense	0			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.391C>A	12.37:g.53709127G>T	ENSP00000209873:p.His131Asn		Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H131N	ENST00000209873.4	37	c.391	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580573	0.86645	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;T	0.85702	-1.81;-2.02;-1.22	4.5	4.5	0.54988	.	0.105010	0.64402	D	0.000006	D	0.88396	0.6425	L	0.47716	1.5	0.80722	D	1	B;D	0.57899	0.2;0.981	B;D	0.67900	0.089;0.954	D	0.85804	0.1375	10	0.27082	T	0.32	-9.7607	15.0919	0.72201	0.0:0.0:1.0:0.0	.	131;131	Q5JB47;Q9NRG9	.;AAAS_HUMAN	N	131	ENSP00000209873:H131N;ENSP00000377908:H131N;ENSP00000448020:H131N	ENSP00000209873:H131N	H	-	1	0	AAAS	51995394	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	8.317000	0.89987	2.530000	0.85305	0.643000	0.83706	CAT	AAAS	-	NULL	ENSG00000094914		0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1		0	36	0	G			53709127	-1			no_errors	ENST00000209873	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	53709127	G	T	53709127	3	4	36	1	0	0	0	0	1	0	0	0	8	1348	47	3	1301	3	AAAS	12	53709127	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3093027	53709127	80142768	160	8738											
HOXC13	3229	genome.wustl.edu	37	chr12	54338823	54338823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgagcagctaccggcGcgggcgcaagaaacgcgtgc	9	3	17	12	7	0	2	0	1	0	1	0	3	0	2	1	3	5	3	1	3	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:54338823G>A	ENST00000243056.3	+	2	932	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	259					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|hair follicle development (GO:0001942)|nail development (GO:0035878)|tongue morphogenesis (GO:0043587)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(1)|skin(1)	3						AGCTACCGGCGCGGGCGCAAG	0.607			T	NUP98	AML																																			Dom	yes		12	12q13.3	3229	homeo box C13		L	0													74	82	80					12																	54338823		2203	4300	6503	SO:0001583	missense	0				CCDS8865.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123364	ENSG00000123364		"Homeoboxes / ANTP class : HOXL subclass"	5125	protein-coding gene	gene with protein product		142976	"homeo box C13"	HOX3, HOX3G		1973146, 1358459	Standard	NM_017410		Approved		uc001sei.3	P31276	OTTHUMG00000160008	ENST00000243056.3:c.776G>A	12.37:g.54338823G>A	ENSP00000243056:p.Arg259His		Q5BL02|Q96J32|Q9NR24|Q9NYD5	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R259H	ENST00000243056.3	37	c.776	CCDS8865.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.447328	0.96205	.	.	ENSG00000123364	ENST00000243056	D	0.95949	-3.86	4.95	4.95	0.65309	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98545	1.0634	10	0.87932	D	0	.	17.4956	0.87716	0.0:0.0:1.0:0.0	.	259	P31276	HXC13_HUMAN	H	259	ENSP00000243056:R259H	ENSP00000243056:R259H	R	+	2	0	HOXC13	52625090	1.000000	0.71417	0.974000	0.42286	0.918000	0.54935	9.486000	0.97944	2.755000	0.94549	0.655000	0.94253	CGC	HOXC13	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom	ENSG00000123364		0.607	HOXC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC13	HGNC	protein_coding	OTTHUMT00000358865.2		0	25	0	G			54338823	1			no_errors	ENST00000243056	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.999	A	A	54338823	G	A	54338823	3	1	36	1	0	0	0	0	1	0	0	0	7339	1087	38	1	782	1	HOXC13	12	54338823	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	629696	54338823	79513072	161	8739											
TIMELESS	8914	genome.wustl.edu	37	chr12	56815969	56815969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtaggtgctctgcgactGgaagacctgaatggtgaaag	11	9	14	7	1	1	3	0	2	1	1	1	5	1	4	1	3	2	2	1	3	4	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:56815969G>A	ENST00000553532.1	-	20	2595	c.2445C>T	c.(2443-2445)tcC>tcT	p.S815S	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Silent_p.S814S					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCTGCGACTGGAAGACCTGA	0.517																																																	0													72	70	71					12																	56815969		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2445C>T	12.37:g.56815969G>A				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.S815	ENST00000553532.1	37	c.2445	CCDS8918.1	12																																																																																			TIMELESS	-	pfam_TIMELESS_C	ENSG00000111602		0.517	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0	37	0	G	NM_003920		56815969	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	silent	56.41	17	22	SNP	0.000	A	A	56815969	G	A	56815969	2	1	36	1	0	0	0	0	0	0	0	1	15951	1335	47	3		3	TIMELESS	12	56815969	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2477146	56815969	77035926	162	8740											
ARHGAP9	64333	genome.wustl.edu	37	chr12	57872895	57872895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtccagagcaattggcCggggatgacggtagttggac	10	7	17	7	2	0	2	0	1	0	1	1	5	1	5	2	6	1	3	2	6	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:57872895C>T	ENST00000356411.2	-	2	433	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G99S|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G178S|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.G170S|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G99S|ARHGAP9_ENST00000430041.2_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	99					positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCAATTGGCCGGGGATGACG	0.557																																																	0													151	135	140					12																	57872895		2203	4300	6503	SO:0001583	missense	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.295G>A	12.37:g.57872895C>T	ENSP00000348782:p.Gly99Ser		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.G99S	ENST00000356411.2	37	c.295		12	.	.	.	.	.	.	.	.	.	.	C	2.018	-0.425539	0.04701	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000552249	T;T;T;T;T	0.39229	3.26;3.26;1.91;3.27;1.09	5.12	2.75	0.32379	Src homology-3 domain (1);	1.144530	0.06282	N	0.697545	T	0.13114	0.0318	N	0.00538	-1.39	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26467	-1.0102	10	0.11485	T	0.65	.	6.1804	0.20468	0.0:0.2006:0.0:0.7994	.	99;178;99;99;99	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9	.;.;RHG09_HUMAN;.;.	S	99;99;99;170;148;17	ENSP00000377380:G99S;ENSP00000348782:G99S;ENSP00000394307:G99S;ENSP00000377386:G170S;ENSP00000448358:G17S	ENSP00000344852:G148S	G	-	1	0	ARHGAP9	56159162	0.000000	0.05858	0.029000	0.17559	0.041000	0.13682	0.296000	0.19083	0.905000	0.36596	-0.238000	0.12139	GGC	ARHGAP9	-	superfamily_SH3_domain	ENSG00000123329		0.557	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		-	0	39	0	C	NM_032496		57872895	-1	tier1	-	no_errors	ENST00000356411	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.032	T	T	57872895	C	T	57872895	3	4	36	1	0	0	0	0	1	0	0	0	889	652	23	1	1968	1	ARHGAP9	12	57872895	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1056926	57872895	75979000	163	8741											
MON2	23041	genome.wustl.edu	37	chr12	62960230	62960230	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccagaatattattaaGgtatctttttttcatttcta	10	20	5	6	0	3	1	1	0	2	1	4	1	4	1	1	1	1	2	1	1	6	9			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:62960230G>T	ENST00000393632.2	+	29	4714	c.4323G>T	c.(4321-4323)aaG>aaT	p.K1441N	MON2_ENST00000546600.1_Splice_Site_p.K1441N|MON2_ENST00000393629.2_Splice_Site_p.K1435N|MON2_ENST00000552738.1_Splice_Site_p.K1412N|MON2_ENST00000280379.6_Splice_Site_p.K1442N|MON2_ENST00000393630.3_Splice_Site_p.K1442N	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1441					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATATTATTAAGGTATCTTTTT	0.308																																																	0													79	88	85					12																	62960230		2201	4300	6501	SO:0001630	splice_region_variant	0				CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"MON2 homolog (yeast)"			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.4323+1G>T	12.37:g.62960230G>T			A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.K1442N	ENST00000393632.2	37	c.4326	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132747	0.37630	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28	5.05	5.05	0.67936	.	0.164583	0.50627	D	0.000117	T	0.52980	0.1768	L	0.47190	1.495	0.80722	D	1	B;B;B;B;B	0.21071	0.03;0.051;0.051;0.017;0.043	B;B;B;B;B	0.26693	0.033;0.072;0.072;0.024;0.072	T	0.47420	-0.9119	9	.	.	.	-13.8961	16.9447	0.86227	0.0:0.0:1.0:0.0	.	1435;1412;1441;310;1441	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	N	1441;1442;1442;1441;1412;1435	ENSP00000377252:K1441N;ENSP00000377250:K1442N;ENSP00000280379:K1442N;ENSP00000447407:K1441N;ENSP00000449215:K1412N;ENSP00000377249:K1435N	.	K	+	3	2	MON2	61246497	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	7.518000	0.81795	2.485000	0.83878	0.655000	0.94253	AAG	MON2	-	superfamily_ARM-type_fold	ENSG00000061987		0.308	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	-	0	81	0	G	NM_015026	Missense_Mutation	62960230	1	tier1	-	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	62960230	G	T	62960230	5	4	36	1	0	0	0	0	0	0	1	0	9738	1014	35	3	4437	3	MON2	12	62960230	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	5087335	62960230	70891665	164	8742											
STAB2	55576	genome.wustl.edu	37	chr12	104126960	104126960	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtgatacgagatgccaaGgtatttagtttacatgcaga	13	12	10	6	1	0	3	0	1	0	2	0	4	0	3	1	1	4	3	1	1	5	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:104126960G>T	ENST00000388887.2	+	51	5664	c.5460G>T	c.(5458-5460)aaG>aaT	p.K1820N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGATGCCAAGGTATTTAGTT	0.453																																																	0													175	158	164					12																	104126960		2203	4300	6503	SO:0001630	splice_region_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5460+1G>T	12.37:g.104126960G>T				Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.K1820N	ENST00000388887.2	37	c.5460	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838416	0.71373	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.90844	-2.74	5.01	5.01	0.66863	FAS1 domain (5);	0.303615	0.35151	N	0.003419	D	0.93090	0.7800	M	0.89601	3.045	0.49687	D	0.999812	P	0.39717	0.684	B	0.42798	0.398	D	0.92717	0.6188	10	0.30078	T	0.28	.	17.0844	0.86606	0.0:0.0:1.0:0.0	.	1820	Q8WWQ8	STAB2_HUMAN	N	1820;507	ENSP00000373539:K1820N	ENSP00000258495:K507N	K	+	3	2	STAB2	102651090	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.717000	0.84732	2.326000	0.78906	0.655000	0.94253	AAG	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	29	0	G		Missense_Mutation	104126960	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	104126960	G	T	104126960	5	4	36	1	0	0	0	0	0	0	1	0	15285	1014	35	3	5662	3	STAB2	12	104126960	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	41166730	104126960	29724935	165	8743											
CCDC64	92558	genome.wustl.edu	37	chr12	120427970	120427970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcccaggaccccgagctgCtgtcggtgatccgacagaag	8	6	12	15	3	0	2	0	1	0	1	3	5	2	3	5	2	2	2	5	2	1	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:120427970C>A	ENST00000397558.2	+	1	298	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	100					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCCGAGCTGCTGTCGGTGAT	0.706																																																	0													4	5	5					12																	120427970		1735	3897	5632	SO:0001583	missense	0			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.298C>A	12.37:g.120427970C>A	ENSP00000380690:p.Leu100Met		A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	NULL	p.L100M	ENST00000397558.2	37	c.298	CCDS41845.1	12	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715340	0.68844	.	.	ENSG00000135127	ENST00000357093;ENST00000397558	T	0.19394	2.15	3.99	3.99	0.46301	.	0.000000	0.52532	D	0.000064	T	0.39655	0.1086	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.17501	-1.0367	10	0.39692	T	0.17	-6.3722	16.1446	0.81555	0.0:1.0:0.0:0.0	.	100	Q6ZP65	BICR1_HUMAN	M	81;100	ENSP00000380690:L100M	ENSP00000349605:L81M	L	+	1	2	CCDC64	118912353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.738000	0.47401	1.806000	0.52798	0.558000	0.71614	CTG	CCDC64	-	NULL	ENSG00000135127		0.706	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC64	HGNC	protein_coding	OTTHUMT00000403390.2		0	101	0	C	NM_207311		120427970	1			no_errors	ENST00000397558	ensembl	human	novel	74_37	missense	5.26	72	4	SNP	1.000	A	A	120427970	C	A	120427970	3	1	36	1	0	0	0	0	1	0	0	0	2842	796	28	3	300	3	CCDC64	12	120427970	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	16301010	120427970	13423925	166	8744											
ZNF664	144348	genome.wustl.edu	37	chr12	124497083	124497083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtaatagttcaaacctttGcatgcatcagagagtccaca	14	11	7	9	0	2	1	2	0	0	1	3	2	3	1	2	0	3	4	2	0	4	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:124497083G>T	ENST00000539644.1	+	6	2222	c.392G>T	c.(391-393)tGc>tTc	p.C131F	FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.C131F|ZNF664_ENST00000392404.3_Missense_Mutation_p.C131F|ZNF664_ENST00000538932.2_Missense_Mutation_p.C131F			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TCAAACCTTTGCATGCATCAG	0.473																																																	0													72	83	80					12																	124497083		2203	4300	6503	SO:0001583	missense	0				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.392G>T	12.37:g.124497083G>T	ENSP00000441405:p.Cys131Phe		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C131F	ENST00000539644.1	37	c.392	CCDS9257.1	12	.	.	.	.	.	.	.	.	.	.	G	2.559	-0.302274	0.05495	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000492	T	0.04543	0.0124	N	0.10874	0.06	0.09310	N	0.999998	B	0.17465	0.022	B	0.10450	0.005	T	0.30621	-0.9972	10	0.44086	T	0.13	-27.3304	8.241	0.31660	0.1047:0.0:0.8953:0.0	.	131	Q8N3J9	ZN664_HUMAN	F	131;131;131;131;69	ENSP00000441405:C131F;ENSP00000376205:C131F;ENSP00000440645:C131F;ENSP00000337320:C131F	ENSP00000337320:C131F	C	+	2	0	ZNF664	123063036	0.000000	0.05858	0.999000	0.59377	0.994000	0.84299	0.895000	0.28363	2.651000	0.90000	0.655000	0.94253	TGC	ZNF664	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179195		0.473	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1	-	0	40	0	G	NM_152437		124497083	1	tier1	-	no_errors	ENST00000337815	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.134	T	T	124497083	G	T	124497083	3	4	36	1	0	0	0	0	1	0	0	0	18120	1319	46	3	394	3	ZNF664	12	124497083	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	4069113	124497083	9354812	167	8745											
NCOR2	9612	genome.wustl.edu	37	chr12	124819756	124819756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggagcagcgggctggaCgagggctggctctcaggcag	6	6	19	10	2	2	0	1	0	2	0	3	3	2	2	0	6	2	5	0	6	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:124819756C>T	ENST00000405201.1	-	40	6336	c.6336G>A	c.(6334-6336)tcG>tcA	p.S2112S	NCOR2_ENST00000404621.1_Silent_p.S2102S|NCOR2_ENST00000397355.1_Silent_p.S2103S|NCOR2_ENST00000404121.2_Silent_p.S1673S|NCOR2_ENST00000356219.3_Silent_p.S2119S|NCOR2_ENST00000429285.2_Silent_p.S2102S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2123					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGGGCTGGACGAGGGCTGGC	0.692																																																	0													22	28	26					12																	124819756		2048	4168	6216	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6336G>A	12.37:g.124819756C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S2119	ENST00000405201.1	37	c.6357	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.692	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	47	0	C	NM_006312		124819756	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.482	T	T	124819756	C	T	124819756	2	4	36	1	0	0	0	0	0	0	0	1	10275	523	19	1		1	NCOR2	12	124819756	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	322673	124819756	9032139	168	8746											
DDX51	317781	genome.wustl.edu	37	chr12	132626438	132626438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttggccagagacttctGtcccgtaaccagggagactc	8	9	10	14	1	1	2	0	0	1	2	4	4	3	2	4	2	1	1	4	2	1	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr12:132626438G>T	ENST00000397333.3	-	6	990	c.952C>A	c.(952-954)Cag>Aag	p.Q318K	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	318	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		AGAGACTTCTGTCCCGTAACC	0.567																																																	0													62	64	63					12																	132626438		1959	4147	6106	SO:0001583	missense	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"DEAD-boxes"	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.952C>A	12.37:g.132626438G>T	ENSP00000380495:p.Gln318Lys		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q318K	ENST00000397333.3	37	c.952	CCDS41865.1	12	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924753	0.52653	.	.	ENSG00000185163	ENST00000397333	T	0.14640	2.49	4.95	4.95	0.65309	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.060499	0.64402	D	0.000002	T	0.12987	0.0315	N	0.12502	0.225	0.80722	D	1	P	0.37548	0.599	P	0.45167	0.472	T	0.21075	-1.0256	10	0.42905	T	0.14	-24.8905	15.6902	0.77446	0.0:0.0:1.0:0.0	.	318	Q8N8A6	DDX51_HUMAN	K	318	ENSP00000380495:Q318K	ENSP00000380495:Q318K	Q	-	1	0	DDX51	131192391	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	8.526000	0.90588	2.279000	0.76181	0.491000	0.48974	CAG	DDX51	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000185163		0.567	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1	-	0	88	0	G	NM_175066		132626438	-1	tier1	-	no_errors	ENST00000397333	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	132626438	G	T	132626438	3	4	36	1	0	0	0	0	1	0	0	0	4378	1386	48	3	1088	3	DDX51	12	132626438	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	7806682	132626438	1225457	169	8747											
RXFP2	122042	genome.wustl.edu	37	chr13	32348756	32348756	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttatcttattcctaccaGatttcttcagcataattgca	10	17	3	11	0	4	1	1	0	3	1	5	1	5	1	2	0	3	2	2	0	4	8			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr13:32348756G>T	ENST00000298386.2	+	6	568		c.e6-1		RXFP2_ENST00000380314.1_Splice_Site	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATTCCTACCAGATTTCTTCAG	0.333																																																	0													144	144	144					13																	32348756		2202	4299	6501	SO:0001630	splice_region_variant	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.498-1G>T	13.37:g.32348756G>T			B1ALE9|Q3KU23	Splice_Site	SNP	-	e6-1	ENST00000298386.2	37	c.498-1	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920586	0.73213	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0292	0.86456	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RXFP2	31246756	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.487000	0.66863	2.635000	0.89317	0.650000	0.86243	.	RXFP2	-	-	ENSG00000133105		0.333	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0	35	0	G	NM_130806	Intron	32348756	1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	splice_site	11.11	24	3	SNP	1.000	T	T	32348756	G	T	32348756	5	4	36	1	0	0	0	0	0	0	1	0	13805	956	33	3	519	3	RXFP2	13	32348756	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		32348756	82821122	170	8748											
MED4	29079	genome.wustl.edu	37	chr13	48654029	48654029	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaaatggccattcacGccattagtggaaggattgtt	10	12	11	8	1	1	0	1	0	0	0	1	2	1	2	3	4	0	2	3	4	4	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr13:48654029G>T	ENST00000258648.2	-	6	616	c.591C>A	c.(589-591)ggC>ggA	p.G197G	MED4_ENST00000378586.1_Silent_p.G151G|MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	197					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		GGCCATTCACGCCATTAGTGG	0.463																																					Pancreas(38;399 1016 9170 13426 20145)												0													138	121	127					13																	48654029		2203	4300	6503	SO:0001819	synonymous_variant	0			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"vitamin D receptor interacting protein", "mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.591C>A	13.37:g.48654029G>T			B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	pfam_Mediator_Med4	p.G197	ENST00000258648.2	37	c.591	CCDS9408.1	13																																																																																			MED4	-	pfam_Mediator_Med4	ENSG00000136146		0.463	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED4	HGNC	protein_coding	OTTHUMT00000044863.1		0	92	0	G	NM_014166		48654029	-1			no_errors	ENST00000258648	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.833	T	T	48654029	G	T	48654029	2	4	36	1	0	0	0	0	0	0	0	1	9488	1074	38	2		2	MED4	13	48654029	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	16305273	48654029	66515849	171	8749											
DCT	1638	genome.wustl.edu	37	chr13	95121153	95121153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgtactctcttcttcgCgagatctaaggcgcccaaga	8	10	12	11	3	3	2	0	0	3	2	5	3	3	2	1	3	1	1	1	3	3	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr13:95121153C>T	ENST00000377028.5	-	2	855	c.442G>A	c.(442-444)Gcg>Acg	p.A148T	DCT_ENST00000446125.1_Missense_Mutation_p.A148T|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	148					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTCTTCTTCGCGAGATCTAAG	0.562																																																	0													226	223	224					13																	95121153		2203	4300	6503	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.442G>A	13.37:g.95121153C>T	ENSP00000366227:p.Ala148Thr		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.A148T	ENST00000377028.5	37	c.442	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	C	16.37	3.105291	0.56291	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98901	-5.22;-5.22	5.79	4.93	0.64822	Uncharacterised domain, di-copper centre (2);	0.203730	0.51477	D	0.000088	D	0.99190	0.9719	M	0.92122	3.275	0.54753	D	0.999987	D;D	0.89917	0.996;1.0	P;P	0.60236	0.766;0.871	D	0.98818	1.0746	9	.	.	.	-11.3911	16.0071	0.80370	0.1356:0.8644:0.0:0.0	.	148;148	Q09GT4;P40126	.;TYRP2_HUMAN	T	148	ENSP00000366227:A148T;ENSP00000392762:A148T	.	A	-	1	0	DCT	93919154	0.991000	0.36638	0.049000	0.19019	0.007000	0.05969	2.931000	0.48932	1.405000	0.46838	0.655000	0.94253	GCG	DCT	-	superfamily_Unchr_di-copper_centre	ENSG00000080166		0.562	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	-	0	63	0	C			95121153	-1	tier1	-	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.948	T	T	95121153	C	T	95121153	3	4	36	1	0	0	0	0	1	0	0	0	4313	768	27	1	1252	1	DCT	13	95121153	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	46467124	95121153	20048725	172	8750											
CARKD	55739	genome.wustl.edu	37	chr13	111287078	111287078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggctaccggaaggctgtGctcactcccaaccacgtgga	9	7	11	14	2	1	0	1	0	0	0	2	2	2	2	3	4	3	3	3	4	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr13:111287078G>A	ENST00000309957.2	+	7	620	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_3'UTR|CARKD_ENST00000424185.2_Silent_p.V92V|CARKD_ENST00000458711.2_Silent_p.V71V	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GGAAGGCTGTGCTCACTCCCA	0.612																																																	0													73	61	65					13																	111287078		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.606G>A	13.37:g.111287078G>A				Silent	SNP	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	p.V202	ENST00000309957.2	37	c.606	CCDS9513.1	13																																																																																			CARKD	-	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	ENSG00000213995		0.612	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	-	0	32	0	G	NM_018210		111287078	1	tier1	-	no_errors	ENST00000309957	ensembl	human	known	74_37	silent	11.43	30	4	SNP	0.404	A	A	111287078	G	A	111287078	2	1	36	1	0	0	0	0	0	0	0	1	2661	1306	46	3		3	CARKD	13	111287078	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	16165925	111287078	3882800	173	8751											
MYH6	4624	genome.wustl.edu	37	chr14	23874914	23874914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggtcagcatggccatGtcctcaatcttgtcgaactt	10	11	10	10	1	3	0	2	0	1	0	5	2	4	1	2	3	2	1	2	3	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:23874914G>A	ENST00000356287.3	-	3	296	c.267C>T	c.(265-267)gaC>gaT	p.D89D	MYH6_ENST00000405093.3_Silent_p.D89D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	89	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCATGGCCATGTCCTCAATCT	0.582																																																	0													265	183	211					14																	23874914		2203	4300	6503	SO:0001819	synonymous_variant	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.267C>T	14.37:g.23874914G>A			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D89	ENST00000356287.3	37	c.267	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197616		0.582	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	91	0	G			23874914	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	silent	36.36	42	24	SNP	1.000	A	A	23874914	G	A	23874914	2	1	36	1	0	0	0	0	0	0	0	1	10076	1368	48	3		3	MYH6	14	23874914	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		23874914	83474626	174	8752											
TM9SF1	10548	genome.wustl.edu	37	chr14	24662056	24662056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagcacacgcattagaatGacagccacaaaacccaccag	17	3	7	14	2	0	2	0	1	0	1	0	3	0	2	3	0	3	2	3	0	5	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:24662056G>A	ENST00000261789.4	-	3	1123	c.765C>T	c.(763-765)gtC>gtT	p.V255V	TM9SF1_ENST00000528669.1_Silent_p.V255V|TM9SF1_ENST00000556387.1_Silent_p.V464V|TM9SF1_ENST00000524835.1_Silent_p.V168V|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000396854.4_Silent_p.V255V|TM9SF1_ENST00000530611.1_Silent_p.V464V	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	255					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GCATTAGAATGACAGCCACAA	0.483																																																	0													118	104	108					14																	24662056		2203	4300	6503	SO:0001819	synonymous_variant	0			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.765C>T	14.37:g.24662056G>A			D3DS65|Q86SZ6|Q96FI8	Silent	SNP	pfam_EMP70,pfam_Snf7	p.V464	ENST00000261789.4	37	c.1392	CCDS9617.1	14																																																																																			TM9SF1	-	pfam_EMP70	ENSG00000100926		0.483	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	HGNC	protein_coding	OTTHUMT00000073136.2	-	0	73	0	G	NM_006405		24662056	-1	tier1	-	no_errors	ENST00000556387	ensembl	human	known	74_37	silent	51.06	23	24	SNP	1.000	A	A	24662056	G	A	24662056	2	1	36	1	0	0	0	0	0	0	0	1	16024	1277	45	3		3	TM9SF1	14	24662056	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	787142	24662056	82687484	175	8753											
EGLN3	112399	genome.wustl.edu	37	chr14	34400348	34400348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagatgcaggtgatgcagCgaccatcaccgttggggttg	9	9	15	8	2	1	2	1	1	0	1	1	3	1	2	2	3	3	5	2	3	1	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:34400348C>T	ENST00000250457.3	-	2	759	c.431G>A	c.(430-432)cGc>cAc	p.R144H	EGLN3_ENST00000553215.1_Missense_Mutation_p.R50H	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	144	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.R144H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GGTGATGCAGCGACCATCACC	0.468																																					Esophageal Squamous(161;245 1904 13895 22565 30076)												1	Substitution - Missense(1)	lung(1)											147	133	138					14																	34400348		2203	4300	6503	SO:0001583	missense	0			AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 3"	606426	"EGL nine (C.elegans) homolog 3", "egl nine homolog 3 (C. elegans)"				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.431G>A	14.37:g.34400348C>T	ENSP00000250457:p.Arg144His		Q2TA79|Q3B8N4|Q6P1R2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R144H	ENST00000250457.3	37	c.431	CCDS9646.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.686560	0.96784	.	.	ENSG00000129521	ENST00000250457;ENST00000539567;ENST00000553215;ENST00000487915	T;T;T	0.64618	-0.11;-0.11;-0.11	5.71	5.71	0.89125	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.89354	0.6691	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93631	0.6956	10	0.87932	D	0	-9.6189	19.8677	0.96824	0.0:1.0:0.0:0.0	.	144;50	Q9H6Z9;F8W1G2	EGLN3_HUMAN;.	H	144;144;50;26	ENSP00000250457:R144H;ENSP00000447470:R50H;ENSP00000451316:R26H	ENSP00000250457:R144H	R	-	2	0	EGLN3	33470099	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.794000	0.85869	2.709000	0.92574	0.655000	0.94253	CGC	EGLN3	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000129521		0.468	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGLN3	HGNC	protein_coding	OTTHUMT00000276647.1		0	44	0	C			34400348	-1			no_errors	ENST00000250457	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	34400348	C	T	34400348	3	4	36	1	0	0	0	0	1	0	0	0	4984	768	27	1	304	1	EGLN3	14	34400348	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	9738292	34400348	72949192	176	8754											
SYT16	83851	genome.wustl.edu	37	chr14	62462802	62462802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttctcttcctggatatCtcgggtttatgaagctctcc	5	16	8	12	1	3	1	0	1	3	0	7	2	4	2	3	2	1	2	3	2	3	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:62462802C>A	ENST00000430451.2	+	1	262	c.65C>A	c.(64-66)tCt>tAt	p.S22Y	SYT16_ENST00000446982.2_Missense_Mutation_p.S22Y	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	22					exocytosis (GO:0006887)			p.S22F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCCTGGATATCTCGGGTTTAT	0.453																																																	2	Substitution - Missense(2)	lung(2)											94	89	91					14																	62462802		1879	4113	5992	SO:0001583	missense	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.65C>A	14.37:g.62462802C>A	ENSP00000394700:p.Ser22Tyr		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	NULL	p.S22Y	ENST00000430451.2	37	c.65	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085040	0.55861	.	.	ENSG00000139973	ENST00000446982;ENST00000430451	T;T	0.52057	0.68;3.18	5.01	4.12	0.48240	.	0.146170	0.46758	D	0.000265	T	0.42291	0.1196	L	0.51422	1.61	0.30943	N	0.725601	P;B	0.40638	0.725;0.037	B;B	0.35510	0.204;0.026	T	0.56492	-0.7970	10	0.87932	D	0	-31.7436	15.346	0.74337	0.1406:0.8594:0.0:0.0	.	22;22	B4DZH2;Q17RD7	.;SYT16_HUMAN	Y	22	ENSP00000388023:S22Y;ENSP00000394700:S22Y	ENSP00000394700:S22Y	S	+	2	0	SYT16	61532555	0.963000	0.33076	1.000000	0.80357	0.993000	0.82548	1.710000	0.37920	1.471000	0.48121	0.555000	0.69702	TCT	SYT16	-	NULL	ENSG00000139973		0.453	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1		0	37	0	C	NM_031914		62462802	1			no_errors	ENST00000446982	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	62462802	C	A	62462802	3	1	36	1	0	0	0	0	1	0	0	0	15519	913	32	3	67	3	SYT16	14	62462802	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	28062454	62462802	44886738	177	8755											
KIAA0247	9766	genome.wustl.edu	37	chr14	70170227	70170227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtgctgaaggctacatGttgaagggcgattacaaata	12	11	12	6	1	0	2	0	2	0	0	0	3	0	2	0	2	3	3	0	2	6	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:70170227G>T	ENST00000342745.4	+	3	550	c.237G>T	c.(235-237)atG>atT	p.M79I		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	79	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		AAGGCTACATGTTGAAGGGCG	0.552																																																	0													117	112	114					14																	70170227		2203	4300	6503	SO:0001583	missense	0			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.237G>T	14.37:g.70170227G>T	ENSP00000344424:p.Met79Ile			Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.M79I	ENST00000342745.4	37	c.237	CCDS9796.1	14	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651379	0.29336	.	.	ENSG00000100647	ENST00000342745	T	0.64438	-0.1	5.9	5.01	0.66863	Complement control module (2);Sushi/SCR/CCP (3);	0.185234	0.64402	D	0.000014	T	0.45094	0.1325	N	0.17674	0.51	0.41365	D	0.987455	B	0.06786	0.001	B	0.04013	0.001	T	0.36672	-0.9738	10	0.09338	T	0.73	-16.6887	15.0275	0.71680	0.068:0.0:0.932:0.0	.	79	Q92537	K0247_HUMAN	I	79	ENSP00000344424:M79I	ENSP00000344424:M79I	M	+	3	0	KIAA0247	69239980	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	2.760000	0.47581	1.504000	0.48704	-0.136000	0.14681	ATG	KIAA0247	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000100647		0.552	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0247	HGNC	protein_coding	OTTHUMT00000412453.1	-	0	100	0	G	NM_014734		70170227	1	tier1	-	no_errors	ENST00000342745	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	70170227	G	T	70170227	3	4	36	1	0	0	0	0	1	0	0	0	8192	1377	48	3	243	3	KIAA0247	14	70170227	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	7707425	70170227	37179313	178	8756											
TMED10	10972	genome.wustl.edu	37	chr14	75601607	75601607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attactcaatcaatttcttgGccttgaagaagcgtcgcagg	11	12	9	9	2	3	2	2	1	1	1	4	2	3	2	1	2	2	1	1	2	5	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:75601607G>T	ENST00000303575.4	-	5	692	c.641C>A	c.(640-642)gCc>gAc	p.A214D	TMED10_ENST00000557670.1_5'UTR|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	214	Interaction with ARF1.|Interaction with COPG1.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CAATTTCTTGGCCTTGAAGAA	0.488																																																	0													112	103	106					14																	75601607		2203	4300	6503	SO:0001583	missense	0			AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.641C>A	14.37:g.75601607G>T	ENSP00000303145:p.Ala214Asp		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	pfam_GOLD,pfscan_GOLD	p.A214D	ENST00000303575.4	37	c.641	CCDS9840.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.531166	0.96446	.	.	ENSG00000170348	ENST00000303575	T	0.23147	1.92	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	L	0.56280	1.765	0.80722	D	1	D	0.56287	0.975	P	0.60345	0.873	T	0.02526	-1.1146	10	0.32370	T	0.25	-13.7144	20.5948	0.99439	0.0:0.0:1.0:0.0	.	214	P49755	TMEDA_HUMAN	D	214	ENSP00000303145:A214D	ENSP00000303145:A214D	A	-	2	0	TMED10	74671360	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GCC	TMED10	-	NULL	ENSG00000170348		0.488	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED10	HGNC	protein_coding	OTTHUMT00000415034.1	-	0	94	0	G	NM_006827		75601607	-1	tier1	-	no_errors	ENST00000303575	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	75601607	G	T	75601607	3	4	36	1	0	0	0	0	1	0	0	0	16050	1203	42	3	22	3	TMED10	14	75601607	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	5431380	75601607	31747933	179	8757											
FLVCR2	55640	genome.wustl.edu	37	chr14	76107334	76107334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctcccactgggatttgaGtttgctgtggagctcacgta	7	14	11	9	1	2	1	1	1	1	0	3	3	2	3	1	2	2	4	1	2	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:76107334G>T	ENST00000238667.4	+	7	1628	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	FLVCR2_ENST00000539311.1_Missense_Mutation_p.E219D|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000555027.1_Missense_Mutation_p.E139D	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	424					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGGGATTTGAGTTTGCTGTGG	0.502																																																	0													124	113	117					14																	76107334		2203	4300	6503	SO:0001583	missense	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1272G>T	14.37:g.76107334G>T	ENSP00000238667:p.Glu424Asp		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.E424D	ENST00000238667.4	37	c.1272	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632978	0.87660	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000553341;ENST00000554580;ENST00000555027	T;T;T;T;T	0.58652	0.39;0.39;0.32;0.32;0.32	5.26	4.37	0.52481	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.047589	0.85682	D	0.000000	T	0.74152	0.3679	M	0.90198	3.095	0.80722	D	1	P;P	0.45986	0.87;0.783	P;P	0.55508	0.777;0.702	T	0.77335	-0.2626	10	0.59425	D	0.04	-23.3256	9.9069	0.41381	0.1661:0.0:0.8339:0.0	.	219;424	B7Z485;Q9UPI3	.;FLVC2_HUMAN	D	424;219;125;124;139	ENSP00000238667:E424D;ENSP00000443439:E219D;ENSP00000452584:E125D;ENSP00000451781:E124D;ENSP00000452453:E139D	ENSP00000238667:E424D	E	+	3	2	AC007182.1	75177087	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.823000	0.55715	1.221000	0.43506	0.655000	0.94253	GAG	FLVCR2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119686		0.502	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1		0	68	0	G	NM_017791		76107334	1			no_errors	ENST00000238667	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	76107334	G	T	76107334	3	4	36	1	0	0	0	0	1	0	0	0	5968	1020	36	3	1298	3	FLVCR2	14	76107334	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	505727	76107334	31242206	180	8758											
BCL11B	64919	genome.wustl.edu	37	chr14	99723818	99723818	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccatacctgcaatgttCtcctgcttgggacagatgcc	8	11	8	14	0	1	1	0	0	1	1	3	2	2	2	4	1	4	3	4	1	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:99723818C>T	ENST00000357195.3	-	2	426	c.417G>A	c.(415-417)gaG>gaA	p.E139E	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Silent_p.E139E	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	139					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCAATGTTCTCCTGCTTGG	0.607			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													143	138	140					14																	99723818		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"Zinc fingers, C2H2-type"	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.417G>A	14.37:g.99723818C>T			Q9H162	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E139	ENST00000357195.3	37	c.417	CCDS9950.1	14																																																																																			BCL11B	-	NULL	ENSG00000127152		0.607	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	HGNC	protein_coding	OTTHUMT00000072332.2	-	0	55	0	C	NM_138576		99723818	-1	tier1	-	no_errors	ENST00000357195	ensembl	human	known	74_37	silent	56.52	30	39	SNP	1.000	T	T	99723818	C	T	99723818	2	4	36	1	0	0	0	0	0	0	0	1	1365	912	32	3		3	BCL11B	14	99723818	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	23616484	99723818	7625722	181	8759											
TDRD9	122402	genome.wustl.edu	37	chr14	104431746	104431746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaaaagcactcagctccCgcagtatatcttggaccact	11	9	8	13	2	2	0	1	0	1	0	3	1	3	1	2	2	2	5	2	2	4	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:104431746C>A	ENST00000409874.4	+	4	545	c.497C>A	c.(496-498)cCg>cAg	p.P166Q	TDRD9_ENST00000339063.5_Missense_Mutation_p.P166Q|TDRD9_ENST00000554571.1_3'UTR	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	166	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACTCAGCTCCCGCAGTATATC	0.502																																																	0													84	79	80					14																	104431746		692	1591	2283	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.497C>A	14.37:g.104431746C>A	ENSP00000387303:p.Pro166Gln		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P166Q	ENST00000409874.4	37	c.497	CCDS9987.2	14	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470820	0.63625	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03094	4.05;4.05	4.54	4.54	0.55810	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	.	.	.	.	T	0.32102	0.0818	H	0.97440	4.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.58188	-0.7680	9	0.87932	D	0	.	17.6618	0.88195	0.0:1.0:0.0:0.0	.	166	Q8NDG6	TDRD9_HUMAN	Q	166	ENSP00000387303:P166Q;ENSP00000343545:P166Q	ENSP00000343545:P166Q	P	+	2	0	TDRD9	103501499	1.000000	0.71417	0.840000	0.33206	0.125000	0.20455	7.776000	0.85560	2.226000	0.72624	0.460000	0.39030	CCG	TDRD9	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000156414		0.502	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3		0	54	0	C	NM_153046		104431746	1			no_errors	ENST00000409874	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A	A	104431746	C	A	104431746	3	1	36	1	0	0	0	0	1	0	0	0	15783	652	23	2	511	2	TDRD9	14	104431746	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	4707928	104431746	2917794	182	8760											
INF2	64423	genome.wustl.edu	37	chr14	105173814	105173814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccacgcccagagtgagAgcatcctgaaagtttcgcag	11	7	12	11	2	0	3	0	2	0	2	2	5	1	4	3	1	1	3	3	1	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr14:105173814A>G	ENST00000392634.4	+	8	1322	c.1210A>G	c.(1210-1212)Agc>Ggc	p.S404G	INF2_ENST00000330634.7_Missense_Mutation_p.S404G	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	404					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCAGAGTGAGAGCATCCTGAA	0.687																																																	0													10	13	12					14																	105173814		1905	3992	5897	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1210A>G	14.37:g.105173814A>G	ENSP00000376410:p.Ser404Gly		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.S404G	ENST00000392634.4	37	c.1210	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	A	0.036	-1.307310	0.01342	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.79940	-1.32;-1.32	1.85	0.663	0.17885	.	.	.	.	.	T	0.65770	0.2723	L	0.40543	1.245	0.20307	N	0.999916	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45629	-0.9248	9	0.17369	T	0.5	.	2.7296	0.05223	0.625:0.0:0.1505:0.2245	.	404;404	Q27J81-2;Q27J81	.;INF2_HUMAN	G	404	ENSP00000376406:S404G;ENSP00000376410:S404G	ENSP00000376406:S404G	S	+	1	0	INF2	104244859	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	0.092000	0.15066	0.187000	0.20147	0.529000	0.55759	AGC	INF2	-	NULL	ENSG00000203485		0.687	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0	82	0	A	NM_022489		105173814	1			no_errors	ENST00000392634	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.012	G	G	105173814	A	G	105173814	3	3	36	1	0	0	0	0	1	0	0	0	7761	304	11	4	1240	4	INF2	14	105173814	Missense_Mutation	SNP	A	TCGA-JY-A6FB-01A-11D-A33E-09	742068	105173814	2175726	183	8761											
OR4N4	283694	genome.wustl.edu	37	chr15	22382670	22382670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttatttctgggcaacttGgccttcctggatgcatccta	7	16	8	10	0	1	0	0	0	1	0	3	1	3	1	3	3	2	2	3	3	4	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:22382670G>T	ENST00000328795.4	+	1	289	c.198G>T	c.(196-198)ttG>ttT	p.L66F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGGCAACTTGGCCTTCCTGG	0.473																																																	0													149	149	149					15																	22382670		2203	4296	6499	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.198G>T	15.37:g.22382670G>T	ENSP00000332500:p.Leu66Phe		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66F	ENST00000328795.4	37	c.198	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	12.14	1.848021	0.32699	.	.	ENSG00000183706	ENST00000328795	T	0.00512	6.89	3.24	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38381	N	0.001706	T	0.01387	0.0045	M	0.84156	2.68	0.30257	N	0.793545	D	0.89917	1.0	D	0.97110	1.0	T	0.24621	-1.0155	10	0.87932	D	0	-9.7559	3.8874	0.09103	0.1324:0.0:0.6314:0.2362	.	66	Q8N0Y3	OR4N4_HUMAN	F	66	ENSP00000332500:L66F	ENSP00000332500:L66F	L	+	3	2	OR4N4	19884034	0.997000	0.39634	0.997000	0.53966	0.398000	0.30690	0.739000	0.26173	0.681000	0.31386	0.195000	0.17529	TTG	OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183706		0.473	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	-	0	115	0	G			22382670	1	tier1	-	no_errors	ENST00000328795	ensembl	human	known	74_37	missense	21.30	84	23	SNP	1.000	T	T	22382670	G	T	22382670	3	4	36	1	0	0	0	0	1	0	0	0	11117	1339	47	3	200	3	OR4N4	15	22382670	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		22382670	80148722	184	8762											
HERC2	8924	genome.wustl.edu	37	chr15	28408276	28408276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgccggaaagcaccgcGgagagcacatccctgcccct	9	4	10	18	3	0	1	0	0	0	1	1	3	1	2	6	2	4	2	6	2	1	0	rs374505560		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:28408276G>A	ENST00000261609.7	-	69	10818	c.10710C>T	c.(10708-10710)tcC>tcT	p.S3570S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAGCACCGCGGAGAGCACAT	0.647																																																	0								G		3,4403	6.2+/-15.9	0,3,2200	88	83	85		10710	-10.3	0	15		85	0,8600		0,0,4300	no	coding-synonymous	HERC2	NM_004667.4		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		3570/4835	28408276	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10710C>T	15.37:g.28408276G>A				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.S3570	ENST00000261609.7	37	c.10710	CCDS10021.1	15																																																																																			HERC2	-	NULL	ENSG00000128731		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	49	0	G	NM_004667		28408276	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	silent	54.39	26	31	SNP	0.001	A	A	28408276	G	A	28408276	2	1	36	1	0	0	0	0	0	0	0	1	7085	1103	39	1		1	HERC2	15	28408276	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	6025606	28408276	74123116	185	8763											
HERC2	8924	genome.wustl.edu	37	chr15	28463812	28463812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgttcctttcagtttgttCggcttctaaaaaaaataatc	13	16	5	7	1	2	0	1	0	1	0	5	0	3	0	1	1	0	4	1	1	6	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:28463812C>T	ENST00000261609.7	-	38	5959	c.5851G>A	c.(5851-5853)Gaa>Aaa	p.E1951K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.E1951K(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCAGTTTGTTCGGCTTCTAAA	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											38	48	44					15																	28463812		1351	2275	3626	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5851G>A	15.37:g.28463812C>T	ENSP00000261609:p.Glu1951Lys			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.E1951K	ENST00000261609.7	37	c.5851	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672233	0.67928	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	4.4	3.47	0.39725	.	0.128657	0.51477	D	0.000093	T	0.28928	0.0718	L	0.47716	1.5	0.80722	D	1	P	0.44006	0.824	B	0.27500	0.08	T	0.11470	-1.0586	10	0.26408	T	0.33	.	14.0559	0.64769	0.1521:0.8479:0.0:0.0	.	1951	O95714	HERC2_HUMAN	K	1951	ENSP00000261609:E1951K	ENSP00000261609:E1951K	E	-	1	0	HERC2	26137407	1.000000	0.71417	0.973000	0.42090	0.571000	0.35966	7.320000	0.79064	1.191000	0.43056	0.650000	0.86243	GAA	HERC2	-	NULL	ENSG00000128731		0.343	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	251	0	C	NM_004667		28463812	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	45.70	120	101	SNP	1.000	T	T	28463812	C	T	28463812	3	4	36	1	0	0	0	0	1	0	0	0	7085	893	31	1	8877	1	HERC2	15	28463812	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	55536	28463812	74067580	186	8764											
RYR3	6263	genome.wustl.edu	37	chr15	34115234	34115234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggagaaaaaggatgctgGattctttcaaagcctttctg	14	11	10	6	0	3	1	1	0	2	1	3	4	3	3	1	3	2	1	1	3	4	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:34115234G>T	ENST00000389232.4	+	81	11103	c.11033G>T	c.(11032-11034)gGa>gTa	p.G3678V	RYR3_ENST00000415757.3_Missense_Mutation_p.G3673V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3678					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGATGCTGGATTCTTTCAA	0.433																																																	0													114	109	111					15																	34115234		1844	4107	5951	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11033G>T	15.37:g.34115234G>T	ENSP00000373884:p.Gly3678Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.G3678V	ENST00000389232.4	37	c.11033	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710735	0.68730	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.89875	-2.58	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.973;0.988	D	0.94025	0.7296	10	0.62326	D	0.03	.	19.2535	0.93935	0.0:0.0:1.0:0.0	.	3673;3678	Q15413-2;Q15413	.;RYR3_HUMAN	V	3678;3677;3673	ENSP00000373884:G3678V	ENSP00000354735:G3673V	G	+	2	0	RYR3	31902526	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	GGA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.433	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	73	0	G			34115234	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	34115234	G	T	34115234	3	4	36	1	0	0	0	0	1	0	0	0	13815	1174	41	3	11355	3	RYR3	15	34115234	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	5651422	34115234	68416158	187	8765											
BUB1B	701	genome.wustl.edu	37	chr15	40501908	40501908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccctaccagagttaagtgCctctgcagagttgtgtatag	9	12	11	9	0	1	2	0	0	1	2	2	2	2	2	3	0	3	4	3	0	4	5	rs202132335		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:40501908C>T	ENST00000287598.6	+	17	2411	c.2216C>T	c.(2215-2217)gCc>gTc	p.A739V	BUB1B_ENST00000412359.3_Missense_Mutation_p.A753V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	739					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GAGTTAAGTGCCTCTGCAGAG	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													130	128	129					15																	40501908		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2216C>T	15.37:g.40501908C>T	ENSP00000287598:p.Ala739Val		B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.A753V	ENST00000287598.6	37	c.2258	CCDS10053.1	15	.	.	.	.	.	.	.	.	.	.	C	2.962	-0.214306	0.06101	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.15256	2.44;2.44	4.91	0.718	0.18202	.	0.582138	0.16878	N	0.195814	T	0.09335	0.0230	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26849	-1.0091	10	0.33940	T	0.23	5.7486	5.4245	0.16417	0.3912:0.4603:0.0:0.1484	.	739	O60566	BUB1B_HUMAN	V	739;753;622	ENSP00000287598:A739V;ENSP00000398470:A753V	ENSP00000287598:A739V	A	+	2	0	BUB1B	38289200	0.000000	0.05858	0.017000	0.16124	0.036000	0.12997	0.513000	0.22770	0.280000	0.22209	-0.164000	0.13417	GCC	BUB1B	-	NULL	ENSG00000156970		0.443	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4	-	0	64	0	C			40501908	1	tier1	-	no_errors	ENST00000412359	ensembl	human	known	74_37	missense	22.55	79	23	SNP	0.001	T	T	40501908	C	T	40501908	3	4	36	1	0	0	0	0	1	0	0	0	1575	739	26	3	2282	3	BUB1B	15	40501908	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	6386674	40501908	62029484	188	8766											
TYRO3	7301	genome.wustl.edu	37	chr15	41870293	41870293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagccctacagtggggCtggggatggcagtggcatgg	7	7	19	8	0	1	0	1	0	0	0	1	2	1	2	1	8	2	3	1	8	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:41870293C>T	ENST00000263798.3	+	19	2716	c.2492C>T	c.(2491-2493)gCt>gTt	p.A831V	TYRO3_ENST00000559066.1_Missense_Mutation_p.A786V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	831			A -> T. {ECO:0000269|PubMed:17344846}.		apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TACAGTGGGGCTGGGGATGGC	0.652																																																	0													26	30	28					15																	41870293		2203	4300	6503	SO:0001583	missense	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2492C>T	15.37:g.41870293C>T	ENSP00000263798:p.Ala831Val		O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A831V	ENST00000263798.3	37	c.2492	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819748	0.32145	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.73363	-0.74	5.94	3.89	0.44902	.	0.355104	0.20503	N	0.091050	T	0.57417	0.2052	N	0.24115	0.695	0.24718	N	0.993165	P	0.36282	0.546	B	0.35550	0.205	T	0.48468	-0.9033	10	0.28530	T	0.3	-1.6412	9.1447	0.36925	0.2422:0.6766:0.0:0.0812	.	831	Q06418	TYRO3_HUMAN	V	763;831	ENSP00000263798:A831V	ENSP00000263798:A831V	A	+	2	0	TYRO3	39657585	0.064000	0.20934	0.798000	0.32154	0.446000	0.32137	0.503000	0.22610	1.521000	0.48983	0.650000	0.86243	GCT	TYRO3	-	NULL	ENSG00000092445		0.652	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	-	0	61	0	C			41870293	1	tier1	-	no_errors	ENST00000263798	ensembl	human	known	74_37	missense	26.03	54	19	SNP	0.216	T	T	41870293	C	T	41870293	3	4	36	1	0	0	0	0	1	0	0	0	16863	797	28	3	2566	3	TYRO3	15	41870293	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1368385	41870293	60661099	189	8767											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42138474	42138474	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatagctgagtttttcacCgatcttctgacgtggcgtcc	7	13	11	10	3	3	2	1	2	2	0	4	4	4	3	2	2	1	2	2	2	1	4	rs375427577		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:42138474C>A	ENST00000452633.1	+	18	2026	c.1674C>A	c.(1672-1674)acC>acA	p.T558T	PLA2G4B_ENST00000458483.1_Silent_p.T558T|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.T789T|PLA2G4B_ENST00000542534.2_Silent_p.T789T|JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.T789T			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	558	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		AGTTTTTCACCGATCTTCTGA	0.532																																																	0													105	108	107					15																	42138474		2203	4300	6503	SO:0001819	synonymous_variant	0			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1674C>A	15.37:g.42138474C>A			B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.T789	ENST00000452633.1	37	c.2367	CCDS45241.1	15																																																																																			JMJD7-PLA2G4B	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168970		0.532	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1	-	0	44	0	C	NM_001114633		42138474	1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.437	A	A	42138474	C	A	42138474	2	1	36	1	0	0	0	0	0	0	0	1	7982	639	23	2		2	JMJD7-PLA2G4B	15	42138474	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	268181	42138474	60392918	190	8768											
RPL4	6124	genome.wustl.edu	37	chr15	66791958	66791958	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgtagtgccgctgcTgcagcagctgccttatccac	5	12	11	13	1	0	0	0	0	0	0	1	0	1	0	3	1	6	7	3	1	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:66791958T>G	ENST00000307961.6	-	10	1163	c.1071A>C	c.(1069-1071)gcA>gcC	p.A357A	SNAPC5_ENST00000395589.2_5'Flank|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000307979.7_5'Flank|RPL4_ENST00000568588.1_Silent_p.A263A|SNAPC5_ENST00000566658.1_5'Flank|SNORD18B_ENST00000365659.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNAPC5_ENST00000316634.5_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	357					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GTGCCGCTGCTGCAGCAGCTG	0.478																																																	0													31	35	33					15																	66791958		2196	4284	6480	SO:0001819	synonymous_variant	0			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1071A>C	15.37:g.66791958T>G			A8K502|P39029|Q4VBR0|Q969Z9	Silent	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.A357	ENST00000307961.6	37	c.1071	CCDS10218.1	15																																																																																			RPL4	-	NULL	ENSG00000174444		0.478	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	-	0	63	0	T	NM_000968		66791958	-1	tier1	-	no_errors	ENST00000307961	ensembl	human	known	74_37	silent	38.60	34	22	SNP	0.000	G	G	66791958	T	G	66791958	2	3	36	1	0	0	0	0	0	0	0	1	13640	1567	55	4		4	RPL4	15	66791958	Silent	SNP	T	TCGA-JY-A6FB-01A-11D-A33E-09	24653484	66791958	35739434	191	8769											
CPEB1	64506	genome.wustl.edu	37	chr15	83218339	83218340	+	Frame_Shift_Ins	INS	-	-	G																															ccgacaaacaccgtcctgctINSggggtcaagcctctgagatg																										TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr15:83218339_83218340insG	ENST00000562019.1	-	9	1600_1601	c.1284_1285insC	c.(1282-1287)cccagcfs	p.S429fs	CPEB1_ENST00000564522.1_Frame_Shift_Ins_p.S349fs|CPEB1_ENST00000568128.1_Frame_Shift_Ins_p.S424fs|RP11-152F13.10_ENST00000562833.1_Frame_Shift_Ins_p.P158fs|CPEB1_ENST00000563800.1_Frame_Shift_Ins_p.S451fs|CPEB1_ENST00000423133.2_Frame_Shift_Ins_p.S349fs|CPEB1_ENST00000450751.2_Frame_Shift_Ins_p.S349fs|CPEB1_ENST00000398592.2_Frame_Shift_Ins_p.S198fs|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Frame_Shift_Ins_p.S349fs|CPEB1_ENST00000261723.6_Frame_Shift_Ins_p.S427fs|CPEB1_ENST00000398591.2_Frame_Shift_Ins_p.S354fs			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	429	Necessary for stress granule assembly and correct localization in dcp1 bodies.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACCGTCCTGCTGGGGTCAAGCC	0.554																																																	0																																										SO:0001589	frameshift_variant	0			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1285dupC	15.37:g.83218343_83218343dupG	ENSP00000457836:p.Ser429fs		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Frame_Shift_Ins	INS	pfscan_RRM_dom	p.S428fs	ENST00000562019.1	37	c.1285_1284		15																																																																																			CPEB1	-	NULL	ENSG00000214575		0.554	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1		0	55	0	-	NM_030594		83218340	-1	tier1		no_errors	ENST00000562019	ensembl	human	known	74_37	frame_shift_ins	36.59	26	15	INS	1.000:1.000	G	G	83218340	-	G	83218339	7	5	36	1	0	1	1	0	0	0	0	0	3807	1580	55	0	431	0	CPEB1	15	83218339	Frame_Shift_Ins	INS	-	TCGA-JY-A6FB-01A-11D-A33E-09	16426381	83218339	19313053	192	8770											
SOLH	6650	genome.wustl.edu	37	chr16	597573	597573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacaaccccgtgccGcgcagccgacgcgaggttcc	8	4	12	17	6	0	1	0	0	0	1	1	3	1	1	5	1	5	3	5	1	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:597573G>A	ENST00000219611.2	+	4	1098	c.735G>A	c.(733-735)ccG>ccA	p.P245P	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	245					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACCCCGTGCCGCGCAGCCGAC	0.746																																																	0													11	17	15					16																	597573		1954	3985	5939	SO:0001819	synonymous_variant	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.735G>A	16.37:g.597573G>A			B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.P245	ENST00000219611.2	37	c.735	CCDS10410.1	16																																																																																			CAPN15	-	NULL	ENSG00000103326		0.746	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1	-	0	29	0	G	NM_005632		597573	1	tier1	-	no_errors	ENST00000219611	ensembl	human	known	74_37	silent	14.71	29	5	SNP	0.925	A	A	597573	G	A	597573	2	1	36	1	0	0	0	0	0	0	0	1	14970	1074	38	1		1	SOLH	16	597573	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		597573	89757180	193	8771											
WFIKKN1	117166	genome.wustl.edu	37	chr16	683091	683091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagtcaccagcgagaGaacctgatcatgcgccctga	13	5	11	12	2	2	4	2	2	0	2	2	6	2	4	3	0	4	1	3	0	2	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:683091G>T	ENST00000319070.2	+	2	1003	c.681G>T	c.(679-681)gaG>gaT	p.E227D		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	227	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				ACCAGCGAGAGAACCTGATCA	0.662																																																	0													33	35	34					16																	683091		2190	4283	6473	SO:0001583	missense	0			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.681G>T	16.37:g.683091G>T	ENSP00000324763:p.Glu227Asp		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.E227D	ENST00000319070.2	37	c.681	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	g	12.82	2.053696	0.36277	.	.	ENSG00000127578	ENST00000319070	D	0.95724	-3.79	4.71	3.75	0.43078	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.203716	0.42172	N	0.000753	D	0.90992	0.7167	N	0.17312	0.475	0.35210	D	0.775027	P	0.43938	0.822	P	0.48488	0.579	D	0.90048	0.4147	10	0.32370	T	0.25	.	6.7739	0.23609	0.092:0.0:0.7335:0.1745	.	227	Q96NZ8	WFKN1_HUMAN	D	227	ENSP00000324763:E227D	ENSP00000324763:E227D	E	+	3	2	WFIKKN1	623092	0.913000	0.31002	1.000000	0.80357	0.932000	0.56968	0.090000	0.15025	0.983000	0.38602	0.486000	0.48141	GAG	WFIKKN1	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000127578		0.662	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	-	0	44	0	G	NM_053284		683091	1	tier1	-	no_errors	ENST00000319070	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.997	T	T	683091	G	T	683091	3	4	36	1	0	0	0	0	1	0	0	0	17407	933	33	3	687	3	WFIKKN1	16	683091	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	85518	683091	89671662	194	8772											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1817269	1817269	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacaagaacaaggtgcacGtcatccagcccaagaccatg	14	5	9	13	1	1	2	1	0	0	2	2	2	2	2	3	1	4	2	3	1	5	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:1817269G>C	ENST00000250894.4	+	26	3362	c.3205G>C	c.(3205-3207)Gtc>Ctc	p.V1069L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V1063L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1069					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAAGGTGCACGTCATCCAGCC	0.622																																																	0													74	83	80					16																	1817269		2132	4240	6372	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3205G>C	16.37:g.1817269G>C	ENSP00000250894:p.Val1069Leu		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.V1069L	ENST00000250894.4	37	c.3205	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615650	0.87359	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.73469	-0.75;-0.75	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.068055	0.64402	D	0.000016	D	0.86322	0.5905	M	0.83312	2.635	0.80722	D	1	P;P;D	0.63046	0.878;0.912;0.992	P;P;D	0.68765	0.715;0.733;0.96	D	0.89242	0.3584	10	0.87932	D	0	-39.373	16.1662	0.81757	0.0:0.0:1.0:0.0	.	1070;1063;1069	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	1069;1063	ENSP00000250894:V1069L;ENSP00000348290:V1063L	ENSP00000250894:V1069L	V	+	1	0	MAPK8IP3	1757270	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	7.780000	0.85658	1.976000	0.57569	0.591000	0.81541	GTC	MAPK8IP3	-	superfamily_WD40_repeat_dom	ENSG00000138834		0.622	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0	152	0	G	NM_001040439		1817269	1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	30.00	90	39	SNP	1.000	C	C	1817269	G	C	1817269	3	2	36	1	0	0	0	0	1	0	0	0	9324	1145	40	5	3323	5	MAPK8IP3	16	1817269	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1134178	1817269	88537484	195	8773											
CASKIN1	57524	genome.wustl.edu	37	chr16	2240120	2240120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgggcctccagcagcagGctgatcaattccgtgttgcc	6	9	12	14	1	1	1	1	1	0	0	3	1	3	1	5	2	3	4	5	2	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:2240120G>A	ENST00000343516.6	-	3	290	c.198C>T	c.(196-198)agC>agT	p.S66S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	66					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCAGCAGCAGGCTGATCAATT	0.672																																																	0													39	41	40					16																	2240120		2036	4210	6246	SO:0001819	synonymous_variant	0			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.198C>T	16.37:g.2240120G>A			Q9P2P0	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.S66	ENST00000343516.6	37	c.198	CCDS42103.1	16																																																																																			CASKIN1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167971		0.672	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	-	0	68	0	G	NM_020764		2240120	-1	tier1	-	no_errors	ENST00000343516	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.597	A	A	2240120	G	A	2240120	2	1	36	1	0	0	0	0	0	0	0	1	2673	1194	42	3		3	CASKIN1	16	2240120	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	422851	2240120	88114633	196	8774											
KCTD5	54442	genome.wustl.edu	37	chr16	2752446	2752446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcacaacaccccgtaCggtacggccagcgagcccag	10	3	12	16	4	0	0	0	0	0	0	0	2	0	0	4	2	7	4	4	2	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:2752446C>T	ENST00000301738.4	+	5	716	c.642C>T	c.(640-642)taC>taT	p.Y214Y	KCTD5_ENST00000564195.1_Missense_Mutation_p.R184W	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	214					protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						ACACCCCGTACGGTACGGCCA	0.622																																					Ovarian(56;981 1456 4301 50892)												0													79	69	73					16																	2752446		2197	4300	6497	SO:0001819	synonymous_variant	0			AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"potassium channel tetramerisation domain containing 5"			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.642C>T	16.37:g.2752446C>T			D3DU96	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R184W	ENST00000301738.4	37	c.550	CCDS10475.1	16																																																																																			KCTD5	-	NULL	ENSG00000167977		0.622	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD5	HGNC	protein_coding	OTTHUMT00000250909.2	-	0	61	0	C	NM_018992		2752446	1	tier1	-	no_errors	ENST00000564195	ensembl	human	putative	74_37	missense	9.52	38	4	SNP	0.996	T	T	2752446	C	T	2752446	2	4	36	1	0	0	0	0	0	0	0	1	8139	547	19	1		1	KCTD5	16	2752446	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	512326	2752446	87602307	197	8775											
CARHSP1	23589	genome.wustl.edu	37	chr16	8953101	8953101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagaggggatggtgagcGctcacggctccgaggggtgt	6	6	19	10	4	1	2	1	1	0	1	2	4	2	3	2	6	1	3	2	6	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:8953101G>T	ENST00000396593.2	-	2	444	c.85C>A	c.(85-87)Cgc>Agc	p.R29S	CARHSP1_ENST00000567626.1_5'Flank|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000567554.1_Missense_Mutation_p.R29S|CARHSP1_ENST00000561530.1_Missense_Mutation_p.R29S|CARHSP1_ENST00000311052.5_Missense_Mutation_p.R29S|CARHSP1_ENST00000562843.1_Missense_Mutation_p.R29S	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	29					intracellular signal transduction (GO:0035556)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|P granule (GO:0043186)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|phosphatase binding (GO:0019902)			endometrium(2)|lung(1)	3						GATGGTGAGCGCTCACGGCTC	0.672																																																	0													27	26	27					16																	8953101		2197	4300	6497	SO:0001583	missense	0			AF115345	CCDS10537.1	16p13.2	2008-02-05	2002-08-29		ENSG00000153048	ENSG00000153048			17150	protein-coding gene	gene with protein product			"calcium regulated heat stable protein 1 (24kD)"			9712905	Standard	NM_014316		Approved	CRHSP-24, CSDC1	uc031quz.1	Q9Y2V2	OTTHUMG00000129695	ENST00000396593.2:c.85C>A	16.37:g.8953101G>T	ENSP00000379838:p.Arg29Ser		B2R4C3|D3DUF5|Q2YDX5|Q9BQ53	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.R29S	ENST00000396593.2	37	c.85	CCDS10537.1	16	.	.	.	.	.	.	.	.	.	.	G	7.522	0.656892	0.14580	.	.	ENSG00000153048	ENST00000396593;ENST00000311052	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.76838	2.35	0.80722	D	1	B	0.31040	0.305	B	0.19666	0.026	T	0.60601	-0.7231	9	0.05833	T	0.94	-4.4229	17.0305	0.86459	0.0:0.0:1.0:0.0	.	29	Q9Y2V2	CHSP1_HUMAN	S	29	.	ENSP00000311847:R29S	R	-	1	0	CARHSP1	8860602	1.000000	0.71417	0.779000	0.31741	0.064000	0.16182	8.534000	0.90620	2.351000	0.79841	0.467000	0.42956	CGC	CARHSP1	-	NULL	ENSG00000153048		0.672	CARHSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARHSP1	HGNC	protein_coding	OTTHUMT00000251902.1	-	0	32	0	G	NM_014316		8953101	-1	tier1	-	no_errors	ENST00000311052	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.998	T	T	8953101	G	T	8953101	3	4	36	1	0	0	0	0	1	0	0	0	2660	1087	38	2	370	2	CARHSP1	16	8953101	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	6200655	8953101	81401652	198	8776											
NPIP	9284	genome.wustl.edu	37	chr16	15045675	15045675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagctctaccctcagcGgatgataatctcaagacacc	11	8	6	16	1	4	2	3	1	2	1	5	3	4	3	3	1	3	1	3	1	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:15045675G>A	ENST00000328085.6	+	8	846	c.846G>A	c.(844-846)gcG>gcA	p.A282A	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2	Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1	282	Pro-rich.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											TACCCTCAGCGGATGATAATC	0.527																																																	0													39	32	35					16																	15045675		1324	2283	3607	SO:0001819	synonymous_variant	0			AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"nuclear pore complex interacting protein"	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000328085.6:c.846G>A	16.37:g.15045675G>A			O15102	Silent	SNP	NULL	p.A282	ENST00000328085.6	37	c.846	CCDS10557.1	16																																																																																			NPIPA1	-	NULL	ENSG00000183426		0.527	NPIPA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NPIPA1	HGNC	protein_coding	OTTHUMT00000207326.2		0	80	0	G	NM_006985		15045675	1			no_errors	ENST00000328085	ensembl	human	novel	74_37	silent	7.55	49	4	SNP	0.080	A	A	15045675	G	A	15045675	2	1	36	1	0	0	0	0	0	0	0	1	10623	1103	39	1		1	NPIP	16	15045675	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	6092574	15045675	75309078	199	8777											
APOB48R	55911	genome.wustl.edu	37	chr16	28507082	28507082	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggaaactgaggagcctggGgccgaaggggctgggaaagg	10	3	22	6	1	0	1	0	1	0	0	0	5	0	4	2	9	2	1	2	9	3	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:28507082G>T	ENST00000431282.1	+	2	730	c.720G>T	c.(718-720)ggG>ggT	p.G240G	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Silent_p.G240G|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Silent_p.G240G			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	240	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGAGCCTGGGGCCGAAGGGG	0.657																																																	0													15	18	17					16																	28507082		2061	4203	6264	SO:0001819	synonymous_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.720G>T	16.37:g.28507082G>T			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	NULL	p.G240	ENST00000431282.1	37	c.720		16																																																																																			APOBR	-	NULL	ENSG00000184730		0.657	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding			0	37	0	G	NM_182804		28507082	1			no_errors	ENST00000564831	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.003	T	T	28507082	G	T	28507082	2	4	36	1	0	0	0	0	0	0	0	1	786	1219	43	3		3	APOB48R	16	28507082	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	13461407	28507082	61847671	200	8778											
RBL2	5934	genome.wustl.edu	37	chr16	53503977	53503977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagtcaatgctgtccctGtgcagaatgtatctggggag	8	11	12	10	0	2	1	1	0	1	1	3	2	3	2	2	2	2	3	2	2	4	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:53503977G>C	ENST00000262133.6	+	15	2262	c.2125G>C	c.(2125-2127)Gtg>Ctg	p.V709L	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	709	Pocket; binds E1A.|Spacer.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCTGTCCCTGTGCAGAATGT	0.557																																																	0													77	70	72					16																	53503977		2198	4300	6498	SO:0001583	missense	0			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2125G>C	16.37:g.53503977G>C	ENSP00000262133:p.Val709Leu		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.V709L	ENST00000262133.6	37	c.2125	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	G	13.17	2.158504	0.38119	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.89552	-2.53	5.54	3.5	0.40072	.	0.344862	0.27581	N	0.018725	T	0.76212	0.3956	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.70722	-0.4794	10	0.33141	T	0.24	-9.6066	11.0268	0.47748	0.0757:0.1403:0.7839:0.0	.	709;419;709	Q8NE70;E9PG04;Q08999	.;.;RBL2_HUMAN	L	709;419	ENSP00000262133:V709L	ENSP00000262133:V709L	V	+	1	0	RBL2	52061478	0.988000	0.35896	0.941000	0.38009	0.977000	0.68977	1.962000	0.40442	1.572000	0.49736	0.650000	0.86243	GTG	RBL2	-	NULL	ENSG00000103479		0.557	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	-	0	84	0	G	NM_005611		53503977	1	tier1	-	no_errors	ENST00000262133	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.927	C	C	53503977	G	C	53503977	3	2	36	1	0	0	0	0	1	0	0	0	13155	1377	48	5	2183	5	RBL2	16	53503977	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	24996895	53503977	36850776	201	8779											
CX3CL1	6376	genome.wustl.edu	37	chr16	57413557	57413557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactcaggacagcaccacGgtgtgacgaaatgcaacatc	14	6	10	11	2	1	2	1	2	0	0	2	4	1	3	1	2	4	2	1	2	3	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:57413557G>T	ENST00000006053.6	+	2	193	c.82G>T	c.(82-84)Ggt>Tgt	p.G28C	CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G34C|CX3CL1_ENST00000565912.1_5'UTR	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	28	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACAGCACCACGGTGTGACGAA	0.542																																																	0													153	108	123					16																	57413557		2198	4300	6498	SO:0001583	missense	0			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"Endogenous ligands"	10647	protein-coding gene	gene with protein product		601880	"small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.82G>T	16.37:g.57413557G>T	ENSP00000006053:p.Gly28Cys		O00672	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1	p.G28C	ENST00000006053.6	37	c.82	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207364	0.39003	.	.	ENSG00000006210	ENST00000006053	T	0.14022	2.54	3.26	2.3	0.28687	Chemokine interleukin-8-like domain (1);	0.836600	0.10073	U	0.719511	T	0.31638	0.0803	M	0.68317	2.08	0.25484	N	0.987708	D	0.89917	1.0	D	0.80764	0.994	T	0.07404	-1.0774	10	0.87932	D	0	-18.9178	6.5199	0.22269	0.1326:0.0:0.8674:0.0	.	28	P78423	X3CL1_HUMAN	C	28	ENSP00000006053:G28C	ENSP00000006053:G28C	G	+	1	0	CX3CL1	55971058	0.407000	0.25352	0.021000	0.16686	0.120000	0.20174	1.523000	0.35932	0.969000	0.38237	0.456000	0.33151	GGT	CX3CL1	-	superfamily_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1	ENSG00000006210		0.542	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	-	0	110	0	G	NM_002996		57413557	1	tier1	-	no_errors	ENST00000006053	ensembl	human	known	74_37	missense	5.00	75	4	SNP	0.020	T	T	57413557	G	T	57413557	3	4	36	1	0	0	0	0	1	0	0	0	4083	1116	39	2	88	2	CX3CL1	16	57413557	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3909580	57413557	32941196	202	8780											
KATNB1	10300	genome.wustl.edu	37	chr16	57789109	57789109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatcatccctgccaccCggaacgagcccatcgggctg	7	6	10	18	3	1	0	1	0	0	0	3	2	2	1	5	2	4	1	5	2	1	0	rs144075503		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:57789109C>T	ENST00000379661.3	+	15	1767	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCCTGCCACCCGGAACGAGCC	0.647																																																	0								C	TRP/ARG	1,4395	2.1+/-5.4	0,1,2197	26	29	28		1375	1.9	0.2	16	dbSNP_134	28	0,8600		0,0,4300	no	missense	KATNB1	NM_005886.2	101	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	459/656	57789109	1,12995	2198	4300	6498	SO:0001583	missense	0			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"WD repeat domain containing"	6217	protein-coding gene	gene with protein product		602703	"katanin p80 (WD40-containing) subunit B 1"			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.1375C>T	16.37:g.57789109C>T	ENSP00000368982:p.Arg459Trp			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R459W	ENST00000379661.3	37	c.1375	CCDS10788.1	16	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427468	0.43122	2.27E-4	0.0	ENSG00000140854	ENST00000379661	T	0.57595	0.39	5.33	1.92	0.25849	.	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	L	0.32530	0.975	0.48185	D	0.999609	D	0.89917	1.0	D	0.87578	0.998	T	0.62001	-0.6946	10	0.87932	D	0	-0.0045	12.5277	0.56096	0.6882:0.3118:0.0:0.0	.	459	Q9BVA0	KTNB1_HUMAN	W	459	ENSP00000368982:R459W	ENSP00000368982:R459W	R	+	1	2	KATNB1	56346610	0.958000	0.32768	0.205000	0.23548	0.074000	0.17049	1.226000	0.32563	0.592000	0.29728	0.650000	0.86243	CGG	KATNB1	-	NULL	ENSG00000140854		0.647	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257343.3		0	45	0	C			57789109	1			no_errors	ENST00000379661	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.411	T	T	57789109	C	T	57789109	3	4	36	1	0	0	0	0	1	0	0	0	8014	643	23	1	1429	1	KATNB1	16	57789109	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	375552	57789109	32565644	203	8781											
EDC4	23644	genome.wustl.edu	37	chr16	67910814	67910814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtatgactgggaacaGaagtactactatggcaacct	14	8	10	9	0	0	2	0	1	0	1	0	3	0	3	2	2	4	3	2	2	8	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:67910814G>T	ENST00000358933.5	+	4	629	c.390G>T	c.(388-390)caG>caT	p.Q130H	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	130					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q130H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGGAACAGAAGTACTACT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											160	155	157					16																	67910814		2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.390G>T	16.37:g.67910814G>T	ENSP00000351811:p.Gln130His		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q130H	ENST00000358933.5	37	c.390	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774694	0.31411	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.42900	0.96	5.83	5.83	0.93111	WD40 repeat-like-containing domain (1);	0.058263	0.64402	D	0.000001	T	0.27419	0.0673	N	0.11023	0.085	0.50313	D	0.999862	B;B	0.10296	0.003;0.003	B;B	0.10450	0.003;0.005	T	0.11991	-1.0565	10	0.12766	T	0.61	-18.4954	19.7135	0.96105	0.0:0.0:1.0:0.0	.	62;130	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	H	130;62	ENSP00000351811:Q130H	ENSP00000351811:Q130H	Q	+	3	2	EDC4	66468315	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.028000	0.49705	2.769000	0.95229	0.655000	0.94253	CAG	EDC4	-	superfamily_WD40_repeat_dom	ENSG00000038358		0.507	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0	39	0	G	NM_014329		67910814	1			no_errors	ENST00000358933	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	67910814	G	T	67910814	3	4	36	1	0	0	0	0	1	0	0	0	4922	933	33	3	404	3	EDC4	16	67910814	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	10121705	67910814	22443939	204	8782											
CHST5	23563	genome.wustl.edu	37	chr16	75563653	75563653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgagcgcggggtcgctGagcagcgggtagagcacctg	7	6	19	9	4	0	3	0	2	0	1	1	3	0	3	1	4	4	5	1	4	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:75563653G>T	ENST00000336257.3	-	3	2024	c.630C>A	c.(628-630)ctC>ctA	p.L210L	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.L216L	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	210					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.L210L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGGGGTCGCTGAGCAGCGGGT	0.711																																																	1	Substitution - coding silent(1)	ovary(1)											63	67	66					16																	75563653		2198	4298	6496	SO:0001819	synonymous_variant	0			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.630C>A	16.37:g.75563653G>T			B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.L216	ENST00000336257.3	37	c.648	CCDS10919.1	16																																																																																			CHST5	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000135702		0.711	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2		0	32	0	G	NM_012126		75563653	-1			no_errors	ENST00000541075	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.909	T	T	75563653	G	T	75563653	2	4	36	1	0	0	0	0	0	0	0	1	3414	1277	45	3		3	CHST5	16	75563653	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	7652839	75563653	14791100	205	8783											
KCNG4	93107	genome.wustl.edu	37	chr16	84256561	84256561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaccgcaggcagaactccagGgagaaccaggccacgcagat	14	2	12	13	2	0	3	0	0	0	3	1	4	1	3	4	3	3	3	4	3	3	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr16:84256561G>A	ENST00000308251.4	-	3	890	c.822C>T	c.(820-822)tcC>tcT	p.S274S		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	274					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGAACTCCAGGGAGAACCAGG	0.567																																																	0													61	64	63					16																	84256561		2200	4300	6500	SO:0001819	synonymous_variant	0			AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.822C>T	16.37:g.84256561G>A			Q96H24	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S274	ENST00000308251.4	37	c.822	CCDS10945.1	16																																																																																			KCNG4	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000168418		0.567	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG4	HGNC	protein_coding	OTTHUMT00000269079.2	-	0	61	0	G	NM_172347		84256561	-1	tier1	-	no_errors	ENST00000308251	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.989	A	A	84256561	G	A	84256561	2	1	36	1	0	0	0	0	0	0	0	1	8057	1219	43	3		3	KCNG4	16	84256561	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	8692908	84256561	6098192	206	8784											
NLGN2	57555	genome.wustl.edu	37	chr17	7311939	7311939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccatcatgctgcctgtgtGgttcaccgacaacttggagg	7	10	12	12	2	2	0	2	0	0	0	2	2	2	1	3	3	3	2	3	3	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:7311939G>T	ENST00000302926.2	+	1	438	c.365G>T	c.(364-366)tGg>tTg	p.W122L	NLGN2_ENST00000575301.1_Missense_Mutation_p.W122L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	122					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTGCCTGTGTGGTTCACCGAC	0.701																																																	0													20	18	19					17																	7311939		2156	4191	6347	SO:0001583	missense	0			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.365G>T	17.37:g.7311939G>T	ENSP00000305288:p.Trp122Leu		Q9P2I1	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.W122L	ENST00000302926.2	37	c.365	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	g	24.1	4.494773	0.85069	.	.	ENSG00000169992	ENST00000302926	T	0.66638	-0.22	3.42	3.42	0.39159	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000002	T	0.56572	0.1994	L	0.33245	0.995	0.58432	D	0.999997	B	0.27997	0.197	B	0.33254	0.16	T	0.57648	-0.7775	10	0.37606	T	0.19	.	13.2034	0.59782	0.0:0.0:1.0:0.0	.	122	Q8NFZ4	NLGN2_HUMAN	L	122	ENSP00000305288:W122L	ENSP00000305288:W122L	W	+	2	0	NLGN2	7252663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.560000	0.98139	2.242000	0.73789	0.436000	0.28706	TGG	NLGN2	-	pfam_CarbesteraseB	ENSG00000169992		0.701	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	-	0	79	0	G	NM_020795		7311939	1	tier1	-	no_errors	ENST00000302926	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	7311939	G	T	7311939	3	4	36	1	0	0	0	0	1	0	0	0	10501	1357	47	3	367	3	NLGN2	17	7311939	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		7311939	73883271	207	8785											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	66	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	58.54	17	24	SNP	1.000	A	A	7577539	G	A	7577539	3	1	36	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	265600	7577539	73617671	208	8786											
ZNF18	7566	genome.wustl.edu	37	chr17	11881520	11881520	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactaaagcctttcccacaGtaatcacatttacagggctt	12	12	5	12	0	2	0	2	0	0	0	3	0	3	0	2	1	2	2	2	1	4	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:11881520G>T	ENST00000322748.3	-	9	2008	c.1404C>A	c.(1402-1404)taC>taA	p.Y468*	ZNF18_ENST00000454073.3_Nonsense_Mutation_p.Y467*|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Nonsense_Mutation_p.Y468*	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	468					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTTTCCCACAGTAATCACATT	0.448																																																	0													83	85	84					17																	11881520		2203	4300	6503	SO:0001587	stop_gained	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1404C>A	17.37:g.11881520G>T	ENSP00000315664:p.Tyr468*		Q5QHQ3|Q8IYC4|Q8NAH6	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Y468*	ENST00000322748.3	37	c.1404	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.467577	0.96257	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	.	.	.	5.62	2.1	0.27182	.	0.137207	0.33834	N	0.004512	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-6.6239	2.9525	0.05866	0.1737:0.1428:0.5369:0.1466	.	.	.	.	X	468	.	ENSP00000315664:Y468X	Y	-	3	2	ZNF18	11822245	0.000000	0.05858	0.933000	0.37362	0.976000	0.68499	-1.324000	0.02690	0.745000	0.32763	-0.259000	0.10710	TAC	ZNF18	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000154957		0.448	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2		0	42	0	G	XM_085596		11881520	-1			no_errors	ENST00000322748	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.011	T	T	11881520	G	T	11881520	4	4	36	1	0	0	0	0	0	1	0	0	17795	1024	36	3	249	3	ZNF18	17	11881520	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	4303981	11881520	69313690	209	8787											
HS3ST3B1	9953	genome.wustl.edu	37	chr17	14248498	14248498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgaccagggccatctcGgactacacgcagacgctgtc	8	6	12	15	4	1	2	0	1	1	1	3	3	1	3	3	3	1	2	3	3	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:14248498G>A	ENST00000360954.2	+	2	1144	c.708G>A	c.(706-708)tcG>tcA	p.S236S		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	236					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		GGGCCATCTCGGACTACACGC	0.637																																																	0													27	16	20					17																	14248498		2191	4226	6417	SO:0001819	synonymous_variant	0			AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"Sulfotransferases, membrane-bound"	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.708G>A	17.37:g.14248498G>A			B3KN58|D3DTS6	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.S236	ENST00000360954.2	37	c.708	CCDS11167.1	17																																																																																			HS3ST3B1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000125430		0.637	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3B1	HGNC	protein_coding	OTTHUMT00000129998.1	-	0	37	0	G	NM_006041		14248498	1	tier1	-	no_errors	ENST00000360954	ensembl	human	known	74_37	silent	60.00	14	21	SNP	0.994	A	A	14248498	G	A	14248498	2	1	36	1	0	0	0	0	0	0	0	1	7393	1103	39	1		1	HS3ST3B1	17	14248498	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2366978	14248498	66946712	210	8788											
GPATCH8	23131	genome.wustl.edu	37	chr17	42541870	42541870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcccaatccctggcccaGcttccacccatgtttctgga	6	13	6	16	0	1	0	0	0	1	0	4	1	4	1	5	2	1	2	5	2	1	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:42541870G>T	ENST00000591680.1	-	3	193	c.163C>A	c.(163-165)Ctg>Atg	p.L55M	GPATCH8_ENST00000434000.1_De_novo_Start_InFrame	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	55	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCCTGGCCCAGCTTCCACCCA	0.398																																																	0													183	190	188					17																	42541870		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.163C>A	17.37:g.42541870G>T	ENSP00000467556:p.Leu55Met		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.L55M	ENST00000591680.1	37	c.163	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382316	0.42207	.	.	ENSG00000186566	ENST00000335500	.	.	.	5.47	5.47	0.80525	D111/G-patch (3);	0.000000	0.46145	D	0.000318	T	0.66336	0.2779	N	0.20986	0.625	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.70185	-0.4941	9	0.66056	D	0.02	-6.1313	19.3249	0.94258	0.0:0.0:1.0:0.0	.	55	Q9UKJ3	GPTC8_HUMAN	M	55	.	ENSP00000335486:L55M	L	-	1	2	GPATCH8	39897396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.370000	0.66144	2.556000	0.86216	0.467000	0.42956	CTG	GPATCH8	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	ENSG00000186566		0.398	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0	99	0	G	NM_001002909		42541870	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	42541870	G	T	42541870	3	4	36	1	0	0	0	0	1	0	0	0	6620	962	34	3	4369	3	GPATCH8	17	42541870	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	28293372	42541870	38653340	211	8789											
NMT1	4836	genome.wustl.edu	37	chr17	43180436	43180436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtcatgagccaggaggagGtggagcactggttctacccc	8	7	14	12	1	2	1	1	1	1	0	2	4	2	4	4	5	3	2	4	5	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:43180436G>T	ENST00000592782.1	+	10	1242	c.1111G>T	c.(1111-1113)Gtg>Ttg	p.V371L	NMT1_ENST00000258960.2_Missense_Mutation_p.V371L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	371					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCAGGAGGAGGTGGAGCACTG	0.537																																																	0													158	145	150					17																	43180436		2203	4300	6503	SO:0001583	missense	0				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1111G>T	17.37:g.43180436G>T	ENSP00000468424:p.Val371Leu		A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.V371L	ENST00000592782.1	37	c.1111	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688159	0.88639	.	.	ENSG00000136448	ENST00000258960	T	0.49432	0.78	5.17	5.17	0.71159	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.75264	2.295	0.80722	D	1	P;P	0.44734	0.842;0.749	P;B	0.52454	0.699;0.346	T	0.63786	-0.6558	10	0.45353	T	0.12	-15.3481	18.8699	0.92309	0.0:0.0:1.0:0.0	.	38;371	A4FU65;P30419	.;NMT1_HUMAN	L	371	ENSP00000258960:V371L	ENSP00000258960:V371L	V	+	1	0	NMT1	40535962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.648000	0.98483	2.687000	0.91594	0.655000	0.94253	GTG	NMT1	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000136448		0.537	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	-	0	93	0	G	NM_021079		43180436	1	tier1	-	no_errors	ENST00000258960	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	43180436	G	T	43180436	3	4	36	1	0	0	0	0	1	0	0	0	10542	1261	44	3	1145	3	NMT1	17	43180436	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	638566	43180436	38014774	212	8790											
KIF2B	84643	genome.wustl.edu	37	chr17	51901324	51901324	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacgggaagtgggaagacGtacaccatgggtggagactt	12	6	16	7	2	0	3	0	0	0	3	0	6	0	5	1	4	1	1	1	4	3	2	rs139246128		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:51901324G>A	ENST00000268919.4	+	1	1086	c.930G>A	c.(928-930)acG>acA	p.T310T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T310T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGGGAAGACGTACACCATGG	0.547																																																	1	Substitution - coding silent(1)	urinary_tract(1)						G		1,4405	2.1+/-5.4	0,1,2202	100	93	95		930	-10.6	0.6	17	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous	KIF2B	NM_032559.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		310/674	51901324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.930G>A	17.37:g.51901324G>A			Q96MA2|Q9BXG6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T310	ENST00000268919.4	37	c.930	CCDS32685.1	17																																																																																			KIF2B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000141200		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1		0	38	0	G	NM_032559		51901324	1			no_errors	ENST00000268919	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.357	A	A	51901324	G	A	51901324	2	1	36	1	0	0	0	0	0	0	0	1	8325	1132	40	1		1	KIF2B	17	51901324	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	8720888	51901324	29293886	213	8791											
OR4D2	124538	genome.wustl.edu	37	chr17	56247817	56247817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttcactccattccctatGgacaagcttgtgtccatcgg	7	12	7	15	1	1	0	1	0	0	0	5	1	4	1	4	2	1	1	4	2	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:56247817G>T	ENST00000545221.1	+	1	801	c.801G>T	c.(799-801)atG>atT	p.M267I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CATTCCCTATGGACAAGCTTG	0.537																																																	0													153	127	136					17																	56247817		2203	4300	6503	SO:0001583	missense	0				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.801G>T	17.37:g.56247817G>T	ENSP00000441354:p.Met267Ile		Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M267I	ENST00000545221.1	37	c.801	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	G	9.167	1.020279	0.19433	.	.	ENSG00000255713	ENST00000545221	T	0.00051	8.81	5.71	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.086501	0.49305	D	0.000145	T	0.00109	0.0003	N	0.25485	0.75	0.28407	N	0.918351	B	0.11235	0.004	B	0.17979	0.02	T	0.11792	-1.0573	10	0.02654	T	1	-33.8508	7.8601	0.29506	0.0806:0.0:0.7571:0.1622	.	267	P58180	OR4D2_HUMAN	I	267	ENSP00000441354:M267I	ENSP00000441354:M267I	M	+	3	0	OR4D2	53602816	0.504000	0.26123	1.000000	0.80357	0.846000	0.48090	0.345000	0.19979	1.552000	0.49463	0.609000	0.83330	ATG	OR4D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255713		0.537	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	HGNC	protein_coding	OTTHUMT00000443366.1	-	0	74	0	G			56247817	1	tier1	-	no_errors	ENST00000545221	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	56247817	G	T	56247817	3	4	36	1	0	0	0	0	1	0	0	0	11095	1348	47	3	803	3	OR4D2	17	56247817	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	4346493	56247817	24947393	214	8792											
FTSJ3	11325	genome.wustl.edu	37	chr17	61899463	61899463	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgacacatagatatcatcCcttggcagatcggacagaaa	14	9	8	10	1	2	4	1	1	1	3	4	5	3	5	1	2	0	1	1	2	3	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:61899463C>A	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.R452S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGATATCATCCCTTGGCAGAT	0.458																																																	0													121	105	110					17																	61899463		2203	4300	6503	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899463C>A			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.R452S	ENST00000578681.1	37	c.1356	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	C	1.867	-0.461107	0.04508	.	.	ENSG00000108592	ENST00000427159	T	0.28666	1.6	5.07	-0.934	0.10428	.	0.454507	0.21938	N	0.066934	T	0.14743	0.0356	L	0.29908	0.895	0.27339	N	0.956558	B	0.26672	0.156	B	0.16722	0.016	T	0.21759	-1.0236	10	0.17369	T	0.5	-8.4326	4.9555	0.14036	0.1411:0.406:0.0:0.4529	.	452	Q8IY81	RRMJ3_HUMAN	S	452	ENSP00000396673:R452S	ENSP00000396673:R452S	R	-	3	2	FTSJ3	59253195	0.001000	0.12720	0.559000	0.28332	0.249000	0.25844	-1.282000	0.02799	-0.310000	0.08766	-0.355000	0.07637	AGG	FTSJ3	-	NULL	ENSG00000108592		0.458	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	-	0	56	0	C	NM_007372		61899463	-1	tier1	-	no_errors	ENST00000427159	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.416	A	A	61899463	C	A	61899463	1	1	36	0	1	0	0	0	0	0	0	0	6113	622	22	3		3	FTSJ3	17	61899463	IGR	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	5651646	61899463	19295747	215	8793											
CCDC45	90799	genome.wustl.edu	37	chr17	62521951	62521951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagcaaatgggaagtatatCcagctcaggtccaagggcct	12	7	12	10	0	1	0	1	0	0	0	3	1	3	1	3	3	2	4	3	3	5	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:62521951C>G	ENST00000556440.2	+	9	1483	c.973C>G	c.(973-975)Cca>Gca	p.P325A	CEP95_ENST00000553412.1_Missense_Mutation_p.P161A	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	325						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GGAAGTATATCCAGCTCAGGT	0.383																																																	0													68	67	68					17																	62521951		1852	4101	5953	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.973C>G	17.37:g.62521951C>G	ENSP00000450461:p.Pro325Ala		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.P325A	ENST00000556440.2	37	c.973	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	C	6.487	0.457964	0.12342	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.28255	1.62;1.62	5.1	-4.3	0.03710	.	0.589006	0.16531	N	0.210367	T	0.13372	0.0324	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42103	-0.9471	10	0.02654	T	1	0.4526	0.5384	0.00641	0.387:0.2263:0.1268:0.2599	.	325	Q96GE4	CEP95_HUMAN	A	260;325;161	ENSP00000450461:P325A;ENSP00000450906:P161A	ENSP00000438458:P260A	P	+	1	0	CEP95	59952413	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.344000	0.19962	-0.796000	0.04456	-0.188000	0.12872	CCA	CEP95	-	NULL	ENSG00000258890		0.383	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	-	0	78	0	C	NM_138363		62521951	1	tier1	-	no_errors	ENST00000556440	ensembl	human	known	74_37	missense	18.80	107	25	SNP	0.000	G	G	62521951	C	G	62521951	3	3	36	1	0	0	0	0	1	0	0	0	2823	855	30	5	1007	5	CCDC45	17	62521951	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	622488	62521951	18673259	216	8794											
CCDC46	201134	genome.wustl.edu	37	chr17	64024488	64024488	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactgctgttttaattgacaGacattctgctctaattcttc	10	17	5	9	0	3	2	0	1	3	1	4	2	3	2	0	0	3	3	0	0	3	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:64024488G>C	ENST00000392769.2	-	15	1757	c.1539C>G	c.(1537-1539)gtC>gtG	p.V513V	CEP112_ENST00000541355.1_Silent_p.V148V|CEP112_ENST00000535342.2_Silent_p.V513V|CEP112_ENST00000537949.1_Silent_p.V471V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	513					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTAATTGACAGACATTCTGCT	0.323																																																	0													193	172	179					17																	64024488		2202	4298	6500	SO:0001819	synonymous_variant	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1539C>G	17.37:g.64024488G>C			Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	superfamily_t-SNARE	p.V513	ENST00000392769.2	37	c.1539	CCDS32710.1	17																																																																																			CEP112	-	NULL	ENSG00000154240		0.323	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	-	0	53	0	G	NM_145036		64024488	-1	tier1	-	no_errors	ENST00000392769	ensembl	human	known	74_37	silent	13.43	58	9	SNP	0.983	C	C	64024488	G	C	64024488	2	2	36	1	0	0	0	0	0	0	0	1	2824	929	33	5		5	CCDC46	17	64024488	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1502537	64024488	17170722	217	8795											
CCDC46	201134	genome.wustl.edu	37	chr17	64025255	64025255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taataccttagaagctgaaaGagcatgttcttgttttagaa	14	14	8	5	0	1	4	0	1	1	3	1	4	1	4	1	0	3	4	1	0	7	7			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:64025255G>C	ENST00000392769.2	-	14	1707	c.1489C>G	c.(1489-1491)Ctt>Gtt	p.L497V	CEP112_ENST00000541355.1_Missense_Mutation_p.L132V|CEP112_ENST00000535342.2_Missense_Mutation_p.L497V|CEP112_ENST00000537949.1_Missense_Mutation_p.L455V	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	497					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAAGCTGAAAGAGCATGTTCT	0.313																																																	0													168	164	165					17																	64025255		2202	4294	6496	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.1489C>G	17.37:g.64025255G>C	ENSP00000376522:p.Leu497Val		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.L497V	ENST00000392769.2	37	c.1489	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282401	0.23392	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.55	3.4	0.38934	.	0.069772	0.56097	N	0.000023	T	0.11367	0.0277	N	0.25380	0.74	0.30621	N	0.758449	B;B;B	0.24043	0.096;0.096;0.096	B;B;B	0.22152	0.038;0.026;0.038	T	0.09015	-1.0694	10	0.29301	T	0.29	-3.899	10.1343	0.42697	0.07:0.2588:0.6712:0.0	.	455;455;497	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	V	497;497;132;455	ENSP00000442784:L497V;ENSP00000376522:L497V;ENSP00000443711:L132V;ENSP00000440775:L455V	ENSP00000376522:L497V	L	-	1	0	CEP112	61455717	0.990000	0.36364	0.989000	0.46669	0.956000	0.61745	1.176000	0.31957	1.437000	0.47472	0.655000	0.94253	CTT	CEP112	-	NULL	ENSG00000154240		0.313	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	-	0	79	0	G	NM_145036		64025255	-1	tier1	-	no_errors	ENST00000392769	ensembl	human	known	74_37	missense	10.98	73	9	SNP	0.917	C	C	64025255	G	C	64025255	3	2	36	1	0	0	0	0	1	0	0	0	2824	942	33	5	1600	5	CCDC46	17	64025255	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	767	64025255	17169955	218	8796											
SDK2	54549	genome.wustl.edu	37	chr17	71382003	71382003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgccatcggattagcaCggaggtggtggtgtggggcg	6	9	18	8	3	0	0	0	0	0	0	1	2	0	2	2	7	3	1	2	7	2	2	rs562611295	byFrequency	TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr17:71382003C>T	ENST00000392650.3	-	32	4552	c.4552G>A	c.(4552-4554)Gtg>Atg	p.V1518M	SDK2_ENST00000388726.3_Missense_Mutation_p.V1518M	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1518	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGGATTAGCACGGAGGTGGTG	0.637													C|||	2	0.000399361	8e-04	0	5008	,	,		15519	0		0	False		,,,				2504	0.001																0													76	65	68					17																	71382003		2203	4299	6502	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4552G>A	17.37:g.71382003C>T	ENSP00000376421:p.Val1518Met		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1518M	ENST00000392650.3	37	c.4552	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438875	0.83885	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.59772	0.24;0.24;0.24	4.57	4.57	0.56435	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	M	0.72353	2.195	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.75130	-0.3426	10	0.39692	T	0.17	.	17.3082	0.87201	0.0:1.0:0.0:0.0	.	1518;1518;1518	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	M	1142;1518;1518;694;1518	ENSP00000376421:V1518M;ENSP00000373378:V1518M;ENSP00000407098:V694M	ENSP00000324967:V1518M	V	-	1	0	SDK2	68893598	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	7.046000	0.76592	2.248000	0.74166	0.655000	0.94253	GTG	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0	51	0	C	NM_019064		71382003	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	71382003	C	T	71382003	3	4	36	1	0	0	0	0	1	0	0	0	14014	536	19	1	2022	1	SDK2	17	71382003	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	7356748	71382003	9813207	219	8797											
LAMA1	284217	genome.wustl.edu	37	chr18	6948417	6948417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccaagagctgcatatcCgcttccgtcaaagtatgttc	11	11	7	12	2	1	1	1	0	0	1	4	1	3	1	3	0	3	5	3	0	5	5	rs369240094		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:6948417C>T	ENST00000389658.3	-	60	8788	c.8695G>A	c.(8695-8697)Gga>Aga	p.G2899R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2899	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCTGCATATCCGCTTCCGTCA	0.517																																																	0								C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	168	112	131		8695	5.7	1	18		131	0,8600		0,0,4300	no	missense	LAMA1	NM_005559.3	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2899/3076	6948417	1,13005	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8695G>A	18.37:g.6948417C>T	ENSP00000374309:p.Gly2899Arg			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G2899R	ENST00000389658.3	37	c.8695	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403632	0.62288	2.27E-4	0.0	ENSG00000101680	ENST00000389658	T	0.50813	0.73	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.066420	0.64402	D	0.000017	T	0.76463	0.3991	M	0.90019	3.08	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80867	-0.1190	10	0.87932	D	0	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	2899;229	P25391;B3KSD8	LAMA1_HUMAN;.	R	2899	ENSP00000374309:G2899R	ENSP00000374309:G2899R	G	-	1	0	LAMA1	6938417	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	6.688000	0.74557	2.695000	0.91970	0.561000	0.74099	GGA	LAMA1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000101680		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	60	0	C	NM_005559		6948417	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	34.38	42	22	SNP	1.000	T	T	6948417	C	T	6948417	3	4	36	1	0	0	0	0	1	0	0	0	8633	661	23	1	548	1	LAMA1	18	6948417	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09		6948417	71128831	220	8798											
SETBP1	26040	genome.wustl.edu	37	chr18	42643578	42643578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacagcagtcgccccCgcagcagccccttccccagg	6	3	9	23	2	0	0	0	0	0	0	2	0	1	0	8	1	3	3	8	1	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:42643578C>T	ENST00000282030.5	+	6	5002	c.4706C>T	c.(4705-4707)cCg>cTg	p.P1569L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1569						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGTCGCCCCCGCAGCAGCCC	0.682									Schinzel-Giedion syndrome																																								0													8	10	9					18																	42643578		2125	4108	6233	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4706C>T	18.37:g.42643578C>T	ENSP00000282030:p.Pro1569Leu		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.P1569L	ENST00000282030.5	37	c.4706	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	C	6.316	0.426323	0.11987	.	.	ENSG00000152217	ENST00000282030	T	0.68025	-0.3	3.01	2.12	0.27331	.	0.402094	0.19140	N	0.121707	T	0.41650	0.1168	N	0.08118	0	0.37284	D	0.907941	B	0.19706	0.038	B	0.21708	0.036	T	0.26916	-1.0089	10	0.29301	T	0.29	.	7.3934	0.26923	0.2593:0.7407:0.0:0.0	.	1569	Q9Y6X0	SETBP_HUMAN	L	1569	ENSP00000282030:P1569L	ENSP00000282030:P1569L	P	+	2	0	SETBP1	40897576	0.002000	0.14202	0.580000	0.28601	0.947000	0.59692	0.579000	0.23788	0.795000	0.33922	0.561000	0.74099	CCG	SETBP1	-	NULL	ENSG00000152217		0.682	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	12	0	C	NM_001130110		42643578	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.954	T	T	42643578	C	T	42643578	3	4	36	1	0	0	0	0	1	0	0	0	14174	652	23	1	4917	1	SETBP1	18	42643578	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	35695161	42643578	35433670	221	8799											
KIAA1632	57724	genome.wustl.edu	37	chr18	43495476	43495476	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcagtgagtttcctacCtgagtgggcgtggccaagcc	6	10	12	13	1	1	2	1	2	1	0	3	2	2	2	5	2	2	1	5	2	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:43495476C>A	ENST00000282041.5	-	20	3727	c.3693G>T	c.(3691-3693)caG>caT	p.Q1231H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1231					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTTTCCTACCTGAGTGGGCG	0.423																																																	0													84	87	86					18																	43495476		2076	4212	6288	SO:0001630	splice_region_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3693+1G>T	18.37:g.43495476C>A			A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.Q1231H	ENST00000282041.5	37	c.3693	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949098	0.34377	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10668	2.85	5.51	5.51	0.81932	.	0.563205	0.16343	N	0.218587	T	0.30070	0.0753	L	0.53249	1.67	0.53688	D	0.999973	D;D	0.76494	0.999;0.999	D;D	0.67548	0.952;0.952	T	0.00289	-1.1844	9	.	.	.	-14.1202	19.4214	0.94723	0.0:1.0:0.0:0.0	.	1231;1231	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	H	1231;106	ENSP00000282041:Q1231H	.	Q	-	3	2	EPG5	41749474	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	6.470000	0.73558	2.598000	0.87819	0.650000	0.86243	CAG	EPG5	-	NULL	ENSG00000152223		0.423	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0	52	0	C	NM_020964	Missense_Mutation	43495476	-1	tier1	-	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	43495476	C	A	43495476	5	1	36	1	0	0	0	0	0	0	1	0	8276	695	24	3	4146	3	KIAA1632	18	43495476	Splice_Site	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	851898	43495476	34581772	222	8800											
MEX3C	51320	genome.wustl.edu	37	chr18	48703496	48703496	+	5'UTR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggaaatcattctcttcaTtgagctctatatagtttcct	11	17	5	8	0	4	1	2	1	2	0	6	2	5	2	1	1	1	2	1	1	5	7	rs533957172		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:48703496T>C	ENST00000591040.1	-	0	493							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		ATTCTCTTCATTGAGCTCTAT	0.468													T|||	1	0.000199681	0	0	5008	,	,		21983	0		0.001	False		,,,				2504	0																0													118	110	113					18																	48703496		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-306A>G	18.37:g.48703496T>C			A1L022|Q9NZE3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.N402S	ENST00000591040.1	37	c.1205		18	.	.	.	.	.	.	.	.	.	.	T	9.339	1.062624	0.19987	.	.	ENSG00000176624	ENST00000406189	T	0.42131	0.98	5.97	5.97	0.96955	.	0.094112	0.64402	D	0.000001	T	0.23688	0.0573	N	0.19112	0.55	0.34681	D	0.724726	P	0.43788	0.817	B	0.33454	0.164	T	0.29701	-1.0003	10	0.09084	T	0.74	-11.2377	15.4434	0.75208	0.0:0.0:0.0:1.0	.	402	Q5U5Q3	MEX3C_HUMAN	S	402	ENSP00000385610:N402S	ENSP00000385610:N402S	N	-	2	0	MEX3C	46957494	0.957000	0.32711	1.000000	0.80357	0.977000	0.68977	1.636000	0.37144	2.288000	0.76882	0.533000	0.62120	AAT	MEX3C	-	NULL	ENSG00000176624		0.468	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	MEX3C	HGNC	protein_coding	OTTHUMT00000449559.1	-	0	43	0	T	NM_016626		48703496	-1	tier1	-	no_errors	ENST00000406189	ensembl	human	known	74_37	missense	32.79	41	20	SNP	0.997	C	C	48703496	T	C	48703496	1	2	36	0	1	0	0	0	0	0	0	0	9549	1493	52	4		4	MEX3C	18	48703496	5'UTR	SNP	T	TCGA-JY-A6FB-01A-11D-A33E-09	5208020	48703496	29373752	223	8801											
DCC	1630	genome.wustl.edu	37	chr18	51025708	51025708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaacaaccacctatgctGcccccatctcagcctgagca	11	6	5	19	0	1	1	1	1	1	0	2	1	1	1	6	0	6	2	6	0	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:51025708G>T	ENST00000442544.2	+	27	4555	c.3939G>T	c.(3937-3939)ctG>ctT	p.L1313L	DCC_ENST00000581580.1_Silent_p.L946L|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1313					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCTATGCTGCCCCCATCTC	0.507																																																	0													178	146	157					18																	51025708		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3939G>T	18.37:g.51025708G>T				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1313	ENST00000442544.2	37	c.3939	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C	ENSG00000187323		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	100	0	G	NM_005215		51025708	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	28.07	82	32	SNP	1.000	T	T	51025708	G	T	51025708	2	4	36	1	0	0	0	0	0	0	0	1	4291	1306	46	3		3	DCC	18	51025708	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2322212	51025708	27051540	224	8802											
ATP8B1	5205	genome.wustl.edu	37	chr18	55365039	55365040	+	Frame_Shift_Ins	INS	-	-	T																															cacttactggaacaaaatcaINSttttttttcagacgaatgac																								rs372472702		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:55365039_55365040insT	ENST00000283684.4	-	6	613_614	c.614_615insA	c.(613-615)aatfs	p.N205fs	ATP8B1_ENST00000589147.1_5'UTR|ATP8B1_ENST00000536015.1_Frame_Shift_Ins_p.N205fs|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	205					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAACAAAATCATTTTTTTTCAG	0.386																																																	0			GRCh37	CI043911	ATP8B1	I																																				SO:0001589	frameshift_variant	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.615dupA	18.37:g.55365047_55365047dupT	ENSP00000283684:p.Asn205fs		Q9BTP8	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.N205fs	ENST00000283684.4	37	c.615_614	CCDS11965.1	18																																																																																			ATP8B1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.386	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1		0	70	0	-	NM_005603		55365040	-1	tier1		no_errors	ENST00000283684	ensembl	human	known	74_37	frame_shift_ins	28.74	62	25	INS	1.000:1.000	T	T	55365040	-	T	55365039	7	5	36	1	0	1	1	0	0	0	0	0	1195	214	8	0	3228	0	ATP8B1	18	55365039	Frame_Shift_Ins	INS	-	TCGA-JY-A6FB-01A-11D-A33E-09	4339331	55365039	22712209	225	8803											
RAX	30062	genome.wustl.edu	37	chr18	56939807	56939807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagccctgggctcggcCgtgcctccccgggctccttg	1	7	15	18	4	0	0	0	0	0	0	3	0	2	0	6	4	2	3	6	4	0	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:56939807C>T	ENST00000334889.3	-	2	515	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	110					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGGGCTCGGCCGTGCCTCCCC	0.687																																					GBM(150;770 1898 17679 24325 37807)												0													52	54	53					18																	56939807		2202	4298	6500	SO:0001583	missense	0			AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.329G>A	18.37:g.56939807C>T	ENSP00000334813:p.Arg110Gln		Q86V11	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.R110Q	ENST00000334889.3	37	c.329	CCDS11972.1	18	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888955	0.52014	.	.	ENSG00000134438	ENST00000334889	D	0.88818	-2.43	6.04	5.15	0.70609	.	0.534119	0.22390	N	0.060686	T	0.78604	0.4309	L	0.27053	0.805	0.09310	N	0.999996	P	0.48089	0.905	B	0.35039	0.194	T	0.68379	-0.5424	10	0.15066	T	0.55	.	13.7287	0.62774	0.1544:0.8456:0.0:0.0	.	110	Q9Y2V3	RX_HUMAN	Q	110	ENSP00000334813:R110Q	ENSP00000334813:R110Q	R	-	2	0	RAX	55090787	0.969000	0.33509	0.916000	0.36221	0.452000	0.32318	2.419000	0.44671	1.523000	0.49018	0.561000	0.74099	CGG	RAX	-	NULL	ENSG00000134438		0.687	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAX	HGNC	protein_coding	OTTHUMT00000256128.2	-	0	66	0	C			56939807	-1	tier1	-	no_errors	ENST00000334889	ensembl	human	known	74_37	missense	17.14	58	12	SNP	0.304	T	T	56939807	C	T	56939807	3	4	36	1	0	0	0	0	1	0	0	0	13141	652	23	1	719	1	RAX	18	56939807	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1574768	56939807	21137441	226	8804											
PMAIP1	5366	genome.wustl.edu	37	chr18	57569920	57569920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaactcaggagatttggaGacaaactgaacttccggcag	13	8	10	10	1	2	3	2	1	0	2	3	5	3	3	1	3	3	1	1	3	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:57569920G>T	ENST00000316660.6	+	2	330	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	PMAIP1_ENST00000269518.9_Missense_Mutation_p.R84I	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	34					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|proteasomal protein catabolic process (GO:0010498)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to dsRNA (GO:0043331)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)	1		Colorectal(73;0.0946)				GAGATTTGGAGACAAACTGAA	0.438																																																	0													104	105	104					18																	57569920		2203	4300	6503	SO:0001583	missense	0			D90070	CCDS11975.1	18q21.32	2014-03-07			ENSG00000141682	ENSG00000141682			9108	protein-coding gene	gene with protein product		604959				2398525, 12879012	Standard	NM_021127		Approved	APR, NOXA	uc002lic.2	Q13794	OTTHUMG00000132765	ENST00000316660.6:c.100G>T	18.37:g.57569920G>T	ENSP00000326119:p.Asp34Tyr		B2R4T7|Q8N589	Missense_Mutation	SNP	NULL	p.D34Y	ENST00000316660.6	37	c.100	CCDS11975.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802505|3.802505	0.70682|0.70682	.|.	.|.	ENSG00000141682|ENSG00000141682	ENST00000316660|ENST00000269518	.|.	.|.	.|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	.|0.000000	.|0.37906	.|N	.|0.001893	T|T	0.79106|0.79106	0.4390|0.4390	.|.	.|.	.|.	0.43408|0.43408	D|D	0.995541|0.995541	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.91635	1.0|0.999	T|T	0.81109|0.81109	-0.1082|-0.1082	7|8	0.87932|0.87932	D|D	0|0	.|.	14.9298|14.9298	0.70906|0.70906	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	34|84	Q13794|Q8N589	APR_HUMAN|.	Y|I	34|84	.|.	ENSP00000326119:D34Y|ENSP00000269518:R84I	D|R	+|+	1|2	0|0	PMAIP1|PMAIP1	55720900|55720900	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.663000|0.663000	0.39108|0.39108	2.988000|2.988000	0.49386|0.49386	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GAC|AGA	PMAIP1	-	NULL	ENSG00000141682		0.438	PMAIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMAIP1	HGNC	protein_coding	OTTHUMT00000256137.1		0	45	0	G	NM_021127		57569920	1			no_errors	ENST00000316660	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	57569920	G	T	57569920	3	4	36	1	0	0	0	0	1	0	0	0	12169	942	33	3	106	3	PMAIP1	18	57569920	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	630113	57569920	20507328	227	8805											
PHLPP1	23239	genome.wustl.edu	37	chr18	60646275	60646275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcttcaggtgccagcaGaggccagtgatgagggcatt	9	8	14	10	0	1	3	1	2	0	1	1	3	1	3	3	3	3	3	3	3	0	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:60646275G>T	ENST00000262719.5	+	17	4999	c.4765G>T	c.(4765-4767)Gag>Tag	p.E1589*	PHLPP1_ENST00000400316.4_Nonsense_Mutation_p.E1077*			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1589					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						GGTGCCAGCAGAGGCCAGTGA	0.627																																																	0													33	39	37					18																	60646275		2105	4219	6324	SO:0001587	stop_gained	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4765G>T	18.37:g.60646275G>T	ENSP00000262719:p.Glu1589*		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Nonsense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.E1589*	ENST00000262719.5	37	c.4765	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	53	20.232960	0.99928	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	.	.	.	4.18	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-18.6084	16.6946	0.85332	0.0:0.0:1.0:0.0	.	.	.	.	X	1077;1589	.	ENSP00000262719:E1589X	E	+	1	0	PHLPP1	58797255	1.000000	0.71417	0.984000	0.44739	0.951000	0.60555	7.281000	0.78621	2.173000	0.68751	0.561000	0.74099	GAG	PHLPP1	-	NULL	ENSG00000081913		0.627	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2		0	34	0	G	NM_194449		60646275	1			no_errors	ENST00000262719	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T	T	60646275	G	T	60646275	4	4	36	1	0	0	0	0	0	1	0	0	11893	943	33	3	4831	3	PHLPP1	18	60646275	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3076355	60646275	17430973	228	8806											
SOCS6	9306	genome.wustl.edu	37	chr18	67992306	67992306	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccatcactacagtccCgcgccgtggcctctgcggcc	5	6	11	19	5	2	0	1	0	1	0	3	0	3	0	5	2	3	1	5	2	1	1	rs201422335		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr18:67992306C>A	ENST00000397942.3	+	2	718	c.402C>A	c.(400-402)ccC>ccA	p.P134P	SOCS6_ENST00000582322.1_Silent_p.P134P	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	134					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ACTACAGTCCCGCGCCGTGGC	0.597																																					Melanoma(84;1024 1361 24382 36583 42651)												0													37	36	36					18																	67992306		2203	4295	6498	SO:0001819	synonymous_variant	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.402C>A	18.37:g.67992306C>A			Q8WUM3	Silent	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.P134	ENST00000397942.3	37	c.402	CCDS11998.1	18																																																																																			SOCS6	-	NULL	ENSG00000170677		0.597	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2		0	36	0	C			67992306	1			no_errors	ENST00000397942	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.870	A	A	67992306	C	A	67992306	2	1	36	1	0	0	0	0	0	0	0	1	14963	639	23	2		2	SOCS6	18	67992306	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	7346031	67992306	10084942	229	8807											
RNF126	55658	genome.wustl.edu	37	chr19	651750	651750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggtccctgccgtcgtcagCctgcgccccaggagggaacg	6	5	15	15	4	1	0	1	0	0	0	3	2	2	2	5	3	4	0	5	3	1	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:651750C>T	ENST00000292363.5	-	4	459	c.304G>A	c.(304-306)Gct>Act	p.A102T		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCGTCAGCCTGCGCCCCA	0.697																																																	0													35	31	33					19																	651750		2200	4299	6499	SO:0001583	missense	0			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"RING-type (C3HC4) zinc fingers"	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.304G>A	19.37:g.651750C>T	ENSP00000292363:p.Ala102Thr			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A102T	ENST00000292363.5	37	c.304	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	c	4.848	0.157611	0.09236	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.13901	2.55	4.42	-1.98	0.07480	.	0.502189	0.20368	N	0.093704	T	0.05410	0.0143	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.37079	-0.9721	10	0.12766	T	0.61	.	2.6277	0.04934	0.1774:0.1791:0.4592:0.1843	.	102	Q9BV68-2	.	T	102	ENSP00000292363:A102T	ENSP00000292363:A102T	A	-	1	0	RNF126	602750	0.001000	0.12720	0.011000	0.14972	0.054000	0.15201	-0.518000	0.06267	-0.156000	0.11079	-0.379000	0.06801	GCT	RNF126	-	NULL	ENSG00000070423		0.697	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	-	0	52	0	C	NM_017876		651750	-1	tier1	-	no_errors	ENST00000292363	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	T	T	651750	C	T	651750	3	4	36	1	0	0	0	0	1	0	0	0	13480	739	26	3	655	3	RNF126	19	651750	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09		651750	58477233	230	8808											
RFX2	5990	genome.wustl.edu	37	chr19	6001944	6001944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggcccactggtccaGggagctctgctgctgcaggg	5	7	15	14	0	1	0	0	0	1	0	2	1	2	1	3	4	5	5	3	4	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:6001944G>C	ENST00000303657.5	-	15	1890	c.1741C>G	c.(1741-1743)Ctg>Gtg	p.L581V	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Missense_Mutation_p.L556V|RFX2_ENST00000359161.3_Missense_Mutation_p.L581V	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACTGGTCCAGGGAGCTCTGC	0.662																																					Colon(38;171 817 19800 47433 48051)												0													57	54	55					19																	6001944		2203	4300	6503	SO:0001583	missense	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.1741C>G	19.37:g.6001944G>C	ENSP00000306335:p.Leu581Val		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.L581V	ENST00000303657.5	37	c.1741	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583796	0.65992	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.51071	0.72	4.2	3.14	0.36123	.	0.159485	0.42964	D	0.000626	T	0.59224	0.2178	L	0.58925	1.835	0.80722	D	1	D;P	0.64830	0.994;0.947	D;P	0.69824	0.966;0.878	T	0.61652	-0.7019	10	0.87932	D	0	-27.6929	8.4276	0.32737	0.1934:0.0:0.8066:0.0	.	556;581	P48378-2;P48378	.;RFX2_HUMAN	V	581;556;368	ENSP00000306335:L581V	ENSP00000306335:L581V	L	-	1	2	RFX2	5952944	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.890000	0.56220	2.019000	0.59389	0.609000	0.83330	CTG	RFX2	-	NULL	ENSG00000087903		0.662	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	-	0	93	0	G	NM_000635		6001944	-1	tier1	-	no_errors	ENST00000303657	ensembl	human	known	74_37	missense	19.15	76	18	SNP	1.000	C	C	6001944	G	C	6001944	3	2	36	1	0	0	0	0	1	0	0	0	13308	991	35	5	446	5	RFX2	19	6001944	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	5350194	6001944	53127039	231	8809											
MUC16	94025	genome.wustl.edu	37	chr19	9059174	9059174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttttttccacagacagCgggcttggccatgacacatc	8	12	9	12	1	0	2	0	1	0	1	2	2	1	2	2	2	1	2	2	2	0	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:9059174C>T	ENST00000397910.4	-	3	28475	c.28272G>A	c.(28270-28272)ccG>ccA	p.P9424P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9426	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCACAGACAGCGGGCTTGGCC	0.512																																																	0													114	113	113					19																	9059174		2008	4179	6187	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28272G>A	19.37:g.9059174C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P9424	ENST00000397910.4	37	c.28272	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	91	0	C	NM_024690		9059174	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	T	T	9059174	C	T	9059174	2	4	36	1	0	0	0	0	0	0	0	1	10011	755	27	1		1	MUC16	19	9059174	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	3057230	9059174	50069809	232	8810											
MUC16	94025	genome.wustl.edu	37	chr19	9059772	9059772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggttaccacattggtcAtctccagtttctctgtatct	7	16	7	11	0	4	1	1	1	3	0	6	1	4	1	2	2	1	3	2	2	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:9059772A>G	ENST00000397910.4	-	3	27877	c.27674T>C	c.(27673-27675)aTg>aCg	p.M9225T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9227	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACATTGGTCATCTCCAGTTT	0.463																																																	0													115	113	114					19																	9059772		2017	4173	6190	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27674T>C	19.37:g.9059772A>G	ENSP00000381008:p.Met9225Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.M9225T	ENST00000397910.4	37	c.27674	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	1.638	-0.517271	0.04171	.	.	ENSG00000181143	ENST00000397910	T	0.21031	2.03	1.75	-3.49	0.04724	.	.	.	.	.	T	0.08626	0.0214	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.25537	-1.0129	8	0.87932	D	0	.	3.6103	0.08058	0.3187:0.0:0.4722:0.2091	.	9225	B5ME49	.	T	9225	ENSP00000381008:M9225T	ENSP00000381008:M9225T	M	-	2	0	MUC16	8920772	0.000000	0.05858	0.000000	0.03702	0.221000	0.24807	-4.670000	0.00200	-1.398000	0.02066	0.249000	0.18162	ATG	MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	64	0	A	NM_024690		9059772	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	15.09	45	8	SNP	0.000	G	G	9059772	A	G	9059772	3	3	36	1	0	0	0	0	1	0	0	0	10011	217	8	4	16177	4	MUC16	19	9059772	Missense_Mutation	SNP	A	TCGA-JY-A6FB-01A-11D-A33E-09	598	9059772	50069211	233	8811											
SMARCA4	6597	genome.wustl.edu	37	chr19	11134230	11134230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaccattctcatcatcCggcgtctccacaaagtgctg	11	9	8	13	2	3	0	2	0	2	0	6	1	4	1	3	2	2	1	3	2	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:11134230C>T	ENST00000429416.3	+	21	3177	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R966W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R966W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R966W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R966W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R966W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R966W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	966					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R966W(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTCATCATCCGGCGTCTCCA	0.567			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Substitution - Missense(1)|Unknown(1)	ovary(1)|lung(1)											68	61	63					19																	11134230		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2896C>T	19.37:g.11134230C>T	ENSP00000395654:p.Arg966Trp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.R966W	ENST00000429416.3	37	c.2896	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649626	0.87958	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97145	0.9067	M	0.88906	2.99	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.994;0.965;0.999;0.999	D	0.97864	1.0282	10	0.87932	D	0	-18.8931	16.9975	0.86372	0.0:1.0:0.0:0.0	.	966;966;966;966;966;186;966;966	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	W	966;966;1030;966;966;966;966;966	ENSP00000395654:R966W;ENSP00000350720:R966W;ENSP00000343896:R966W;ENSP00000445036:R966W;ENSP00000392837:R966W;ENSP00000397783:R966W;ENSP00000414727:R966W	ENSP00000343896:R966W	R	+	1	2	SMARCA4	10995230	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.576000	0.60915	2.542000	0.85734	0.655000	0.94253	CGG	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000127616		0.567	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	130	0	C	NM_003072		11134230	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	64.08	37	66	SNP	1.000	T	T	11134230	C	T	11134230	3	4	36	1	0	0	0	0	1	0	0	0	14815	643	23	1	2970	1	SMARCA4	19	11134230	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2074458	11134230	47994753	234	8812											
CACNA1A	773	genome.wustl.edu	37	chr19	13441080	13441080	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaggctatatcagccagCtgatcctcagcctcttcggg	9	9	10	13	1	3	2	2	1	1	1	5	2	4	2	3	2	3	2	3	2	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:13441080C>T	ENST00000360228.5	-	10	1322	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	CACNA1A_ENST00000573710.2_Silent_p.Q442Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	442					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TATCAGCCAGCTGATCCTCAG	0.522																																																	0													76	78	77					19																	13441080		1935	4147	6082	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1323G>A	19.37:g.13441080C>T			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.Q441	ENST00000360228.5	37	c.1323	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	-	0	64	0	C	NM_000068		13441080	-1	tier1	-	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	13441080	C	T	13441080	2	4	36	1	0	0	0	0	0	0	0	1	2545	796	28	3		3	CACNA1A	19	13441080	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2306850	13441080	45687903	235	8813											
CYP4F3	4051	genome.wustl.edu	37	chr19	15769357	15769357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaacccagccgtgtggccgGaccctgaggtgcgggccccc	6	4	14	17	3	0	1	0	1	0	0	0	2	0	2	6	4	3	0	6	4	1	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:15769357G>A	ENST00000221307.8	+	11	1353	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	CYP4F3_ENST00000591058.1_Missense_Mutation_p.D436N|CYP4F3_ENST00000586182.2_Missense_Mutation_p.D436N|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D436N	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	436					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGTGTGGCCGGACCCTGAGGT	0.577																																																	0													117	130	125					19																	15769357		2203	4300	6503	SO:0001583	missense	0			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1306G>A	19.37:g.15769357G>A	ENSP00000221307:p.Asp436Asn		B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.D436N	ENST00000221307.8	37	c.1306	CCDS12332.1	19	.	.	.	.	.	.	.	.	.	.	.	3.942	-0.014106	0.07681	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.81499	-1.5	4.63	2.41	0.29592	.	0.254805	0.30781	U	0.008893	T	0.66567	0.2802	L	0.28776	0.89	0.41841	D	0.990124	B;B;B	0.16802	0.019;0.009;0.009	B;B;B	0.26969	0.075;0.074;0.052	T	0.55749	-0.8092	10	0.27082	T	0.32	.	5.802	0.18420	0.3509:0.0:0.6491:0.0	.	146;436;436	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	N	363;436	ENSP00000221307:D436N	ENSP00000221307:D436N	D	+	1	0	CYP4F3	15630357	0.909000	0.30893	0.996000	0.52242	0.220000	0.24768	1.467000	0.35321	0.786000	0.33708	0.305000	0.20034	GAC	CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000186529		0.577	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	-	0	95	0	G	NM_000896		15769357	1	tier1	-	no_errors	ENST00000221307	ensembl	human	known	74_37	missense	55.93	26	33	SNP	0.860	A	A	15769357	G	A	15769357	3	1	36	1	0	0	0	0	1	0	0	0	4199	1174	41	3	1344	3	CYP4F3	19	15769357	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2328277	15769357	43359626	236	8814											
PLVAP	83483	genome.wustl.edu	37	chr19	17487876	17487876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggaggccgtgagccctagGagctgactgtataggccctc	7	8	15	11	1	0	2	0	2	0	0	1	4	0	4	3	4	2	2	3	4	3	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:17487876G>T	ENST00000252590.4	-	1	283	c.222C>A	c.(220-222)ctC>ctA	p.L74L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	74					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGAGCCCTAGGAGCTGACTGT	0.617																																																	0													107	91	96					19																	17487876		2203	4300	6503	SO:0001819	synonymous_variant	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.222C>A	19.37:g.17487876G>T			Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	pfam_PV-1	p.L74	ENST00000252590.4	37	c.222	CCDS32952.1	19																																																																																			PLVAP	-	pfam_PV-1	ENSG00000130300		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	-	0	66	0	G	NM_031310		17487876	-1	tier1	-	no_errors	ENST00000252590	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.000	T	T	17487876	G	T	17487876	2	4	36	1	0	0	0	0	0	0	0	1	12155	1161	41	3		3	PLVAP	19	17487876	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1718519	17487876	41641107	237	8815											
PGLS	25796	genome.wustl.edu	37	chr19	17628644	17628644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaactggagaaggcaaGgcagctgttctgaaggtaac	12	7	15	7	0	1	2	0	1	1	1	1	3	1	2	0	5	3	6	0	5	5	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:17628644G>T	ENST00000252603.2	+	4	668	c.624G>T	c.(622-624)aaG>aaT	p.K208N	CTD-3131K8.3_ENST00000596192.1_RNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	208					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						GAGAAGGCAAGGCAGCTGTTC	0.552																																																	0													101	83	89					19																	17628644		2203	4300	6503	SO:0001583	missense	0			AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.624G>T	19.37:g.17628644G>T	ENSP00000252603:p.Lys208Asn			Missense_Mutation	SNP	tigrfam_6-phosphogluconolactonase_DevB	p.K208N	ENST00000252603.2	37	c.624	CCDS12361.1	19	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515563	0.44763	.	.	ENSG00000130313	ENST00000252603	T	0.72394	-0.65	5.95	3.71	0.42584	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	H	0.97983	4.12	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.87250	0.2272	10	0.87932	D	0	-47.7954	5.3525	0.16043	0.3289:0.0:0.6711:0.0	.	208	O95336	6PGL_HUMAN	N	208	ENSP00000252603:K208N	ENSP00000252603:K208N	K	+	3	2	PGLS	17489644	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	3.040000	0.49799	1.526000	0.49068	-0.140000	0.14226	AAG	PGLS	-	tigrfam_6-phosphogluconolactonase_DevB	ENSG00000130313		0.552	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLS	HGNC	protein_coding	OTTHUMT00000464154.1		0	88	0	G			17628644	1			no_errors	ENST00000252603	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	17628644	G	T	17628644	3	4	36	1	0	0	0	0	1	0	0	0	11831	991	35	3	638	3	PGLS	19	17628644	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	140768	17628644	41500339	238	8816											
KIAA0355	9710	genome.wustl.edu	37	chr19	34818996	34818996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccctgtgcagataggatcGcacttcctgaagggcgtctc	7	10	12	12	2	1	2	0	1	1	1	5	3	3	3	2	2	1	2	2	2	2	2	rs529061184		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:34818996G>A	ENST00000299505.6	+	6	1917	c.1044G>A	c.(1042-1044)tcG>tcA	p.S348S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	348										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGATAGGATCGCACTTCCTGA	0.597													G|||	1	0.000199681	0	0	5008	,	,		16437	0.001		0	False		,,,				2504	0																0													68	68	68					19																	34818996		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1044G>A	19.37:g.34818996G>A			Q2M3W4	Silent	SNP	NULL	p.S348	ENST00000299505.6	37	c.1044	CCDS12436.1	19																																																																																			KIAA0355	-	NULL	ENSG00000166398		0.597	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4		0	57	0	G	NM_014686		34818996	1			no_errors	ENST00000299505	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.043	A	A	34818996	G	A	34818996	2	1	36	1	0	0	0	0	0	0	0	1	8197	1074	38	1		1	KIAA0355	19	34818996	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	17190352	34818996	24309987	239	8817											
RYR1	6261	genome.wustl.edu	37	chr19	38990574	38990574	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggaaccgcctgaagaaaAccgggtgcacctgggacacg	12	4	14	11	3	0	3	0	2	0	1	0	5	0	5	4	3	3	1	4	3	4	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:38990574A>C	ENST00000359596.3	+	45	7241	c.7241A>C	c.(7240-7242)aAc>aCc	p.N2414T	RYR1_ENST00000360985.3_Missense_Mutation_p.N2414T|RYR1_ENST00000355481.4_Missense_Mutation_p.N2414T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2414	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTGAAGAAAACCGGGTGCAC	0.637																																																	0													114	94	101					19																	38990574		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7241A>C	19.37:g.38990574A>C	ENSP00000352608:p.Asn2414Thr		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.N2414T	ENST00000359596.3	37	c.7241	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987090	0.35036	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97710	-4.5;-4.5;-4.5	3.99	3.99	0.46301	.	0.000000	0.64402	U	0.000001	D	0.95655	0.8587	L	0.60455	1.87	0.36100	D	0.84407	P;B	0.37500	0.597;0.03	B;B	0.34722	0.188;0.031	D	0.97840	1.0268	10	0.87932	D	0	.	12.003	0.53241	1.0:0.0:0.0:0.0	.	2414;2414	P21817-2;P21817	.;RYR1_HUMAN	T	2414	ENSP00000352608:N2414T;ENSP00000347667:N2414T;ENSP00000354254:N2414T	ENSP00000347667:N2414T	N	+	2	0	RYR1	43682414	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	4.622000	0.61240	1.663000	0.50791	0.247000	0.18012	AAC	RYR1	-	NULL	ENSG00000196218		0.637	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0	40	0	A			38990574	1			no_errors	ENST00000359596	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	C	C	38990574	A	C	38990574	3	2	36	1	0	0	0	0	1	0	0	0	13813	43	2	4	7419	4	RYR1	19	38990574	Missense_Mutation	SNP	A	TCGA-JY-A6FB-01A-11D-A33E-09	4171578	38990574	20138409	240	8818											
XRCC1	7515	genome.wustl.edu	37	chr19	44056361	44056361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccttctcctcggggtttgCctgtcactgccccctgtgct	1	14	10	16	1	2	0	1	0	1	0	4	0	2	0	5	2	4	2	5	2	0	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:44056361C>T	ENST00000262887.5	-	9	1437	c.890G>A	c.(889-891)gGc>gAc	p.G297D	XRCC1_ENST00000543982.1_Missense_Mutation_p.G266D|L34079.3_ENST00000597119.1_RNA			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	297					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCGGGGTTTGCCTGTCACTGC	0.622								Other BER factors																																									0													59	54	56					19																	44056361		2203	4300	6503	SO:0001583	missense	0			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.890G>A	19.37:g.44056361C>T	ENSP00000262887:p.Gly297Asp		Q6IBS4|Q9HCB1	Missense_Mutation	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.G297D	ENST00000262887.5	37	c.890	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	C	6.235	0.411407	0.11812	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	T;T	0.02525	4.27;4.26	4.71	-3.71	0.04424	.	0.609401	0.16623	N	0.206405	T	0.02610	0.0079	M	0.63428	1.95	0.09310	N	1	B;B	0.26809	0.16;0.112	B;B	0.33690	0.168;0.024	T	0.48547	-0.9026	10	0.09084	T	0.74	-5.9088	1.0551	0.01588	0.1388:0.3058:0.2725:0.2829	.	266;297	F5H8D7;P18887	.;XRCC1_HUMAN	D	311;297;266;297	ENSP00000262887:G297D;ENSP00000443671:G266D	ENSP00000262887:G297D	G	-	2	0	XRCC1	48748201	0.000000	0.05858	0.020000	0.16555	0.013000	0.08279	-1.550000	0.02180	-0.592000	0.05851	0.561000	0.74099	GGC	XRCC1	-	NULL	ENSG00000073050		0.622	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	-	0	81	0	C	NM_006297		44056361	-1	tier1	-	no_errors	ENST00000262887	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.003	T	T	44056361	C	T	44056361	3	4	36	1	0	0	0	0	1	0	0	0	17501	739	26	3	1047	3	XRCC1	19	44056361	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	5065787	44056361	15072622	241	8819											
CLPTM1	1209	genome.wustl.edu	37	chr19	45489736	45489736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggactatgggcctgtGgaggtgatctcccattggca	7	10	15	9	0	1	2	0	2	1	0	2	4	1	4	2	5	0	2	2	5	1	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:45489736G>A	ENST00000337392.5	+	7	846	c.696G>A	c.(694-696)gtG>gtA	p.V232V	CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000541297.2_Silent_p.V218V|CLPTM1_ENST00000546079.1_Silent_p.V130V	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	232					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.V232V(2)|p.E233*(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ATGGGCCTGTGGAGGTGATCT	0.592																																																	4	Substitution - Nonsense(2)|Substitution - coding silent(2)	lung(4)											145	111	123					19																	45489736		2203	4300	6503	SO:0001819	synonymous_variant	0			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.696G>A	19.37:g.45489736G>A			B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Silent	SNP	pfam_CLPTM1	p.V232	ENST00000337392.5	37	c.696	CCDS12651.1	19																																																																																			CLPTM1	-	pfam_CLPTM1	ENSG00000104853		0.592	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	HGNC	protein_coding	OTTHUMT00000453267.1		0	81	0	G	NM_001294		45489736	1			no_errors	ENST00000337392	ensembl	human	known	74_37	silent	5.66	50	3	SNP	1.000	A	A	45489736	G	A	45489736	2	1	36	1	0	0	0	0	0	0	0	1	3561	1335	47	3		3	CLPTM1	19	45489736	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1433375	45489736	13639247	242	8820											
TRPM4	54795	genome.wustl.edu	37	chr19	49703657	49703657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcacggtcaacaaacagCtggggcccaagatcgtcatc	11	8	9	13	2	4	1	3	0	1	1	6	1	4	1	1	3	3	1	1	3	3	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:49703657C>A	ENST00000252826.5	+	18	2872	c.2746C>A	c.(2746-2748)Ctg>Atg	p.L916M	TRPM4_ENST00000355712.5_Missense_Mutation_p.L562M|TRPM4_ENST00000427978.2_Missense_Mutation_p.L771M	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	916					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CAACAAACAGCTGGGGCCCAA	0.617																																																	0													49	44	46					19																	49703657		2203	4300	6503	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2746C>A	19.37:g.49703657C>A	ENSP00000252826:p.Leu916Met		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L916M	ENST00000252826.5	37	c.2746	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776827	0.90195	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;T;D	0.99042	-5.36;-0.57;-5.36	4.21	4.21	0.49690	Ion transport (1);	0.000000	0.64402	D	0.000004	D	0.99089	0.9687	M	0.70108	2.13	0.58432	D	0.999992	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.99497	1.0952	10	0.72032	D	0.01	-15.2844	15.7186	0.77688	0.0:1.0:0.0:0.0	.	562;742;771;916	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	M	916;771;562	ENSP00000252826:L916M;ENSP00000407492:L771M;ENSP00000347944:L562M	ENSP00000252826:L916M	L	+	1	2	TRPM4	54395469	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.405000	0.59741	2.084000	0.62774	0.491000	0.48974	CTG	TRPM4	-	pfam_Ion_trans_dom	ENSG00000130529		0.617	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	-	0	49	0	C	NM_017636		49703657	1	tier1	-	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	49703657	C	A	49703657	3	1	36	1	0	0	0	0	1	0	0	0	16636	796	28	3	2816	3	TRPM4	19	49703657	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	4213921	49703657	9425326	243	8821											
CPT1C	126129	genome.wustl.edu	37	chr19	50208316	50208316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagctcgcgctgggaatgCcgtccatgccctcctcctgt	4	9	12	16	3	0	0	0	0	0	0	4	1	3	1	5	2	3	3	5	2	1	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:50208316C>T	ENST00000392518.4	+	9	1196	c.824C>T	c.(823-825)gCc>gTc	p.A275V	CPT1C_ENST00000598293.1_Missense_Mutation_p.A275V|CPT1C_ENST00000405931.2_Missense_Mutation_p.A264V|CPT1C_ENST00000323446.5_Missense_Mutation_p.A275V|CPT1C_ENST00000354199.5_Missense_Mutation_p.A275V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	275					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTGGGAATGCCGTCCATGCC	0.647																																																	0													66	70	68					19																	50208316		2203	4300	6503	SO:0001583	missense	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.824C>T	19.37:g.50208316C>T	ENSP00000376303:p.Ala275Val		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A275V	ENST00000392518.4	37	c.824	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	C	1.850	-0.465353	0.04476	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.34	4.34	0.51931	.	0.000000	0.47455	D	0.000239	T	0.69106	0.3074	N	0.10945	0.07	0.28222	N	0.926469	B;B;B;B	0.29432	0.049;0.244;0.004;0.005	B;B;B;B	0.25506	0.055;0.061;0.007;0.019	T	0.58775	-0.7577	10	0.05436	T	0.98	-18.5716	10.1157	0.42589	0.0:0.9019:0.0:0.0981	.	113;275;264;275	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	V	275;275;264;275;113	ENSP00000376303:A275V;ENSP00000346138:A275V;ENSP00000384465:A264V;ENSP00000319343:A275V	ENSP00000295404:A113V	A	+	2	0	CPT1C	54900128	0.000000	0.05858	0.438000	0.26821	0.589000	0.36550	0.724000	0.25954	2.260000	0.74910	0.561000	0.74099	GCC	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.647	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1		0	27	0	C	NM_152359		50208316	1			no_errors	ENST00000323446	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.656	T	T	50208316	C	T	50208316	3	4	36	1	0	0	0	0	1	0	0	0	3840	739	26	3	850	3	CPT1C	19	50208316	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	504659	50208316	8920667	244	8822											
SYT3	84258	genome.wustl.edu	37	chr19	51135719	51135719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcagcctctggataCgagtccatgtccaagtagga	9	9	12	11	1	1	0	0	0	1	0	3	3	3	2	3	2	4	4	3	2	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:51135719C>T	ENST00000338916.4	-	2	1131	c.498G>A	c.(496-498)tcG>tcA	p.S166S	SYT3_ENST00000544769.1_Silent_p.S166S|SYT3_ENST00000600079.1_Silent_p.S166S|SYT3_ENST00000593901.1_Silent_p.S166S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	166					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTCTGGATACGAGTCCATGT	0.647																																																	0													26	27	27					19																	51135719		2202	4299	6501	SO:0001819	synonymous_variant	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.498G>A	19.37:g.51135719C>T			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.S166	ENST00000338916.4	37	c.498	CCDS12798.1	19																																																																																			SYT3	-	NULL	ENSG00000213023		0.647	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	-	0	68	0	C	NM_032298		51135719	-1	tier1	-	no_errors	ENST00000338916	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.867	T	T	51135719	C	T	51135719	2	4	36	1	0	0	0	0	0	0	0	1	15522	523	19	1		1	SYT3	19	51135719	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	927403	51135719	7993264	245	8823											
SIGLEC9	27180	genome.wustl.edu	37	chr19	51629013	51629013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggacccctccaccacccGctcctcggtgctcaccctca	5	7	6	23	2	2	0	2	0	0	0	5	1	4	1	8	2	1	2	8	2	0	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:51629013G>A	ENST00000250360.3	+	2	648	c.581G>A	c.(580-582)cGc>cAc	p.R194H	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.R194H	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	194	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCACCACCCGCTCCTCGGTG	0.652																																																	0													68	68	68					19																	51629013		2203	4300	6503	SO:0001583	missense	0			AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.581G>A	19.37:g.51629013G>A	ENSP00000250360:p.Arg194His		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.R194H	ENST00000250360.3	37	c.581	CCDS12825.1	19	.	.	.	.	.	.	.	.	.	.	.	0.453	-0.893055	0.02491	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.02974	4.09;4.09	2.88	-5.75	0.02384	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	2.080600	0.02442	N	0.084714	T	0.01454	0.0047	N	0.11789	0.175	0.09310	N	1	B	0.19331	0.035	B	0.11329	0.006	T	0.43940	-0.9360	10	0.08381	T	0.77	.	2.32	0.04208	0.5591:0.1183:0.1585:0.1641	.	194	Q9Y336	SIGL9_HUMAN	H	194	ENSP00000413861:R194H;ENSP00000250360:R194H	ENSP00000250360:R194H	R	+	2	0	SIGLEC9	56320825	0.000000	0.05858	0.001000	0.08648	0.167000	0.22549	-1.597000	0.02089	-1.909000	0.01085	-1.173000	0.01734	CGC	SIGLEC9	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000129450		0.652	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIGLEC9	HGNC	protein_coding	OTTHUMT00000464224.1	-	0	58	0	G	NM_014441		51629013	1	tier1	-	no_errors	ENST00000440804	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.001	A	A	51629013	G	A	51629013	3	1	36	1	0	0	0	0	1	0	0	0	14360	1087	38	1	587	1	SIGLEC9	19	51629013	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	493294	51629013	7499970	246	8824											
SIGLEC8	27181	genome.wustl.edu	37	chr19	51958907	51958907	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactggccctcaaggacTgaaagagatgagccatttcc	13	7	11	10	0	1	4	1	2	0	2	2	7	2	5	3	2	1	0	3	2	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:51958907T>C	ENST00000321424.3	-	4	882	c.816A>G	c.(814-816)tcA>tcG	p.S272S	SIGLEC8_ENST00000430817.1_Silent_p.S163S|SIGLEC8_ENST00000340550.5_Silent_p.S179S|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	272	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTCAAGGACTGAAAGAGATG	0.562																																																	0													68	68	68					19																	51958907		2203	4300	6503	SO:0001819	synonymous_variant	0			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.816A>G	19.37:g.51958907T>C			Q7Z728	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S272	ENST00000321424.3	37	c.816	CCDS33086.1	19																																																																																			SIGLEC8	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105366		0.562	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	-	0	58	0	T	NM_014442		51958907	-1	tier1	-	no_errors	ENST00000321424	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.000	C	C	51958907	T	C	51958907	2	2	36	1	0	0	0	0	0	0	0	1	14359	1567	55	4		4	SIGLEC8	19	51958907	Silent	SNP	T	TCGA-JY-A6FB-01A-11D-A33E-09	329894	51958907	7170076	247	8825											
ZNF347	84671	genome.wustl.edu	37	chr19	53644240	53644240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgaattcgctgatgcCttgaaaggtatgaattatgc	12	13	10	6	1	0	4	0	4	0	0	1	4	0	4	1	1	2	3	1	1	6	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:53644240C>A	ENST00000334197.7	-	5	1909	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ZNF347_ENST00000452676.2_Missense_Mutation_p.R615M|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R615M	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCGCTGATGCCTTGAAAGGTA	0.388																																					Melanoma(64;205 1597 17324 45721)												0													112	107	109					19																	53644240		2203	4300	6503	SO:0001583	missense	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1841G>T	19.37:g.53644240C>A	ENSP00000334146:p.Arg614Met		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R615M	ENST00000334197.7	37	c.1844	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	C	2.531	-0.308612	0.05458	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.26660	1.72;1.72	3.01	-6.02	0.02192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19805	0.0476	L	0.51422	1.61	0.09310	N	1	P;B	0.44690	0.841;0.239	P;B	0.45881	0.496;0.163	T	0.17319	-1.0373	9	0.34782	T	0.22	.	0.204	0.00148	0.3314:0.221:0.212:0.2356	.	615;614	G5E9N4;Q96SE7	.;ZN347_HUMAN	M	614;615	ENSP00000334146:R614M;ENSP00000405218:R615M	ENSP00000334146:R614M	R	-	2	0	ZNF347	58336052	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-15.353000	0.00000	-4.992000	0.00025	-0.890000	0.02929	AGG	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.388	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	-	0	79	0	C	NM_032584		53644240	-1	tier1	-	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A	A	53644240	C	A	53644240	3	1	36	1	0	0	0	0	1	0	0	0	17909	681	24	3	682	3	ZNF347	19	53644240	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	1685333	53644240	5484743	248	8826											
PTPRH	5794	genome.wustl.edu	37	chr19	55697657	55697657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgttcccacaccaggCgccagaagtcacccactgtc	8	8	8	17	1	2	1	1	0	1	1	4	1	3	1	4	1	1	2	4	1	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:55697657C>T	ENST00000376350.3	-	16	2736	c.2714G>A	c.(2713-2715)cGc>cAc	p.R905H	PTPRH_ENST00000263434.5_Missense_Mutation_p.R727H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	905	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCACACCAGGCGCCAGAAGTC	0.642																																																	0													40	43	42					19																	55697657		2203	4300	6503	SO:0001583	missense	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2714G>A	19.37:g.55697657C>T	ENSP00000365528:p.Arg905His		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R905H	ENST00000376350.3	37	c.2714	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491417	0.84962	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	D;D	0.85088	-1.94;-1.94	5.12	4.08	0.47627	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.34932	N	0.003574	D	0.88377	0.6420	M	0.80616	2.505	0.48696	D	0.999694	P;D	0.61697	0.919;0.99	B;P	0.49999	0.343;0.628	D	0.89802	0.3976	10	0.87932	D	0	.	13.006	0.58705	0.0:0.9196:0.0:0.0803	.	727;905	C9JCH2;Q9HD43	.;PTPRH_HUMAN	H	905;727	ENSP00000365528:R905H;ENSP00000263434:R727H	ENSP00000263434:R727H	R	-	2	0	PTPRH	60389469	0.989000	0.36119	0.991000	0.47740	0.988000	0.76386	2.897000	0.48664	1.316000	0.45131	0.650000	0.86243	CGC	PTPRH	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000080031		0.642	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0	66	0	C			55697657	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	T	T	55697657	C	T	55697657	3	4	36	1	0	0	0	0	1	0	0	0	12848	768	27	1	653	1	PTPRH	19	55697657	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	2053417	55697657	3431326	249	8827											
ZIK1	284307	genome.wustl.edu	37	chr19	58096319	58096319	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatctttggctttccacaGgttactgtgtctccagaaac	9	14	8	10	0	2	2	0	1	2	1	4	2	3	2	2	2	2	2	2	2	2	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr19:58096319G>T	ENST00000597850.1	+	2	248		c.e2-1		ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000598726.1_Intron|ZIK1_ENST00000536878.2_Intron|ZIK1_ENST00000599456.1_Intron	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTTTCCACAGGTTACTGTGT	0.552																																																	0													115	99	105					19																	58096319		2203	4300	6503	SO:0001630	splice_region_variant	0			AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"Zinc fingers, C2H2-type", "-"	33104	protein-coding gene	gene with protein product			"zinc finger protein interacting with K protein 1 homolog (mouse)"				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.34-1G>T	19.37:g.58096319G>T			O43339|Q3SY51|Q3SY53	Splice_Site	SNP	-	e2-1	ENST00000597850.1	37	c.34-1	CCDS33135.1	19	.	.	.	.	.	.	.	.	.	.	G	3.710	-0.059760	0.07317	.	.	ENSG00000171649	ENST00000307468	.	.	.	2.75	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.23607	N	0.997306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6394	0.22901	0.0:0.0:0.6888:0.3112	.	.	.	.	.	-1	.	.	.	+	.	.	ZIK1	62788131	0.005000	0.15991	0.004000	0.12327	0.008000	0.06430	0.734000	0.26101	0.675000	0.31264	0.491000	0.48974	.	ZIK1	-	-	ENSG00000171649		0.552	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZIK1	HGNC	protein_coding	OTTHUMT00000466791.1	-	0	48	0	G	NM_001010879	Intron	58096319	1	tier1	-	no_errors	ENST00000597850	ensembl	human	known	74_37	splice_site	11.11	32	4	SNP	0.005	T	T	58096319	G	T	58096319	5	4	36	1	0	0	0	0	0	0	1	0	17731	1014	35	3	39	3	ZIK1	19	58096319	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	2398662	58096319	1032664	250	8828											
RBCK1	10616	genome.wustl.edu	37	chr20	409671	409671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaggacggctgcgactGgatccgctgcaccgtctgcc	8	6	14	13	4	1	1	0	0	1	1	2	5	2	3	3	3	3	3	3	3	2	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr20:409671G>T	ENST00000356286.5	+	11	2090	c.1385G>T	c.(1384-1386)tGg>tTg	p.W462L	RBCK1_ENST00000353660.3_Missense_Mutation_p.W420L|RBCK1_ENST00000382181.2_Missense_Mutation_p.W292L	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	462					negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GGCTGCGACTGGATCCGCTGC	0.667																																																	0													34	35	35					20																	409671		2203	4300	6503	SO:0001583	missense	0			U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"RING-type (C3HC4) zinc fingers", "Zinc fingers, RAN-binding domain containing"	15864	protein-coding gene	gene with protein product	"heme-oxidized IRP2 ubiquitin ligase 1"	610924	"chromosome 20 open reading frame 18"	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.1385G>T	20.37:g.409671G>T	ENSP00000348632:p.Trp462Leu		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.W462L	ENST00000356286.5	37	c.1385	CCDS13000.2	20	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640186	0.87760	.	.	ENSG00000125826	ENST00000356286;ENST00000353660;ENST00000382181	T;T;T	0.61742	0.08;0.08;0.08	5.03	5.03	0.67393	Zinc finger, C6HC-type (1);	0.000000	0.85682	D	0.000000	T	0.67608	0.2911	L	0.39467	1.215	0.80722	D	1	D;P;P	0.89917	1.0;0.952;0.933	D;P;P	0.75020	0.985;0.798;0.872	T	0.66496	-0.5909	10	0.44086	T	0.13	-1.0322	15.8931	0.79315	0.0:0.0:1.0:0.0	.	292;420;462	A6PVK0;Q9BYM8-3;Q9BYM8	.;.;HOIL1_HUMAN	L	462;420;292	ENSP00000348632:W462L;ENSP00000254960:W420L;ENSP00000371616:W292L	ENSP00000254960:W420L	W	+	2	0	RBCK1	357671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.201000	0.95017	2.619000	0.88677	0.650000	0.86243	TGG	RBCK1	-	pfam_Znf_C6HC	ENSG00000125826		0.667	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	RBCK1	HGNC	protein_coding	OTTHUMT00000077461.3		0	19	0	G	NM_031229		409671	1			no_errors	ENST00000356286	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	409671	G	T	409671	3	4	36	1	0	0	0	0	1	0	0	0	13152	1357	47	3	1446	3	RBCK1	20	409671	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		409671	62615849	251	8829											
RIN2	54453	genome.wustl.edu	37	chr20	19956379	19956379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaactatttgtctcaGagctcggagctggacccccc	9	9	10	13	1	2	2	2	0	1	2	4	4	2	4	3	2	3	2	3	2	3	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr20:19956379G>T	ENST00000255006.6	+	8	2006	c.1857G>T	c.(1855-1857)caG>caT	p.Q619H	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	570	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTTGTCTCAGAGCTCGGAGC	0.498																																																	0													20	22	21					20																	19956379		2031	4193	6224	SO:0001583	missense	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1857G>T	20.37:g.19956379G>T	ENSP00000255006:p.Gln619His		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.Q619H	ENST00000255006.6	37	c.1857	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929665	0.52759	.	.	ENSG00000132669	ENST00000255006	T	0.31769	1.48	5.95	5.0	0.66597	.	0.053822	0.85682	D	0.000000	T	0.48314	0.1493	M	0.79123	2.44	0.80722	D	1	P	0.52170	0.951	P	0.54629	0.757	T	0.50800	-0.8785	9	.	.	.	-22.9271	12.1733	0.54172	0.1407:0.0:0.8593:0.0	.	570	Q8WYP3	RIN2_HUMAN	H	619	ENSP00000255006:Q619H	.	Q	+	3	2	RIN2	19904379	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.774000	0.38573	1.533000	0.49186	-0.136000	0.14681	CAG	RIN2	-	NULL	ENSG00000132669		0.498	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1		0	66	0	G			19956379	1			no_errors	ENST00000255006	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	19956379	G	T	19956379	3	4	36	1	0	0	0	0	1	0	0	0	13417	933	33	3	1736	3	RIN2	20	19956379	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	19546708	19956379	43069141	252	8830											
GDF5	8200	genome.wustl.edu	37	chr20	34022109	34022109	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacaggtactcatacacGgtcttatcgtcctggccaga	10	10	9	12	2	2	2	1	1	1	1	4	2	3	2	2	3	3	1	2	3	4	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr20:34022109G>T	ENST00000374372.1	-	4	1607	c.1104C>A	c.(1102-1104)acC>acA	p.T368T	GDF5OS_ENST00000374375.1_Silent_p.T51T|GDF5_ENST00000374369.3_Silent_p.T368T			P43026	GDF5_HUMAN	growth differentiation factor 5	368					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACTCATACACGGTCTTATCGT	0.592																																																	0													94	95	94					20																	34022109		2203	4300	6503	SO:0001819	synonymous_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1104C>A	20.37:g.34022109G>T			E1P5Q2|Q96SB1	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.T368	ENST00000374372.1	37	c.1104	CCDS13254.1	20																																																																																			GDF5	-	NULL	ENSG00000125965		0.592	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2		0	54	0	G			34022109	-1			no_errors	ENST00000374369	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.129	T	T	34022109	G	T	34022109	2	4	36	1	0	0	0	0	0	0	0	1	6342	1103	39	2		2	GDF5	20	34022109	Silent	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	14065730	34022109	29003411	253	8831											
ZNF217	7764	genome.wustl.edu	37	chr20	52193292	52193292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtatctgcagtcagctgCggtctccgtttgcttctctt	3	16	9	13	2	4	0	1	0	3	0	6	0	4	0	2	1	4	5	2	1	1	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr20:52193292C>T	ENST00000371471.2	-	4	2436	c.2011G>A	c.(2011-2013)Gca>Aca	p.A671T	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.A671T			O75362	ZN217_HUMAN	zinc finger protein 217	671					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A671T(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGTCAGCTGCGGTCTCCGTT	0.483																																																	2	Substitution - Missense(2)	large_intestine(2)											155	159	157					20																	52193292		2203	4300	6503	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.2011G>A	20.37:g.52193292C>T	ENSP00000360526:p.Ala671Thr		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A671T	ENST00000371471.2	37	c.2011	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	1.784	-0.481154	0.04383	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08008	3.14;3.14	5.03	0.742	0.18341	.	1.092080	0.06895	N	0.804926	T	0.05868	0.0153	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46205	-0.9208	10	0.11182	T	0.66	-3.4205	5.7814	0.18308	0.1265:0.5884:0.0:0.2851	.	671	O75362	ZN217_HUMAN	T	671	ENSP00000360526:A671T;ENSP00000304308:A671T	ENSP00000304308:A671T	A	-	1	0	ZNF217	51626699	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.383000	0.07398	0.229000	0.21039	0.555000	0.69702	GCA	ZNF217	-	NULL	ENSG00000171940		0.483	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2		0	81	0	C	NM_006526		52193292	-1			no_errors	ENST00000302342	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.000	T	T	52193292	C	T	52193292	3	4	36	1	0	0	0	0	1	0	0	0	17820	768	27	1	1143	1	ZNF217	20	52193292	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	18171183	52193292	10832228	254	8832											
RBM11	54033	genome.wustl.edu	37	chr21	15596828	15596828	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaattaataatacttctttAcctcaagaatattttctctt	13	18	1	9	0	3	1	1	0	2	1	4	1	3	1	2	0	2	0	2	0	8	10			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr21:15596828A>G	ENST00000400577.3	+	4	411	c.402A>G	c.(400-402)ttA>ttG	p.L134L	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	134					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		ATACTTCTTTACCTCAAGAAT	0.289																																																	0													58	55	56					21																	15596828		1790	4059	5849	SO:0001819	synonymous_variant	0			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.402A>G	21.37:g.15596828A>G			Q6YNC2|Q8NBA1|Q8NFF6	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L134	ENST00000400577.3	37	c.402	CCDS46635.1	21																																																																																			RBM11	-	NULL	ENSG00000185272		0.289	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	-	0	49	0	A	NM_144770		15596828	1	tier1	-	no_errors	ENST00000400577	ensembl	human	known	74_37	silent	37.14	22	13	SNP	1.000	G	G	15596828	A	G	15596828	2	3	36	1	0	0	0	0	0	0	0	1	13157	388	14	4		4	RBM11	21	15596828	Silent	SNP	A	TCGA-JY-A6FB-01A-11D-A33E-09		15596828	32533067	255	8833											
BRWD1	54014	genome.wustl.edu	37	chr21	40569302	40569302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaacagacccttttcctgGaaatttttctgcttagtcca	9	15	7	10	0	1	1	0	0	1	1	3	3	3	3	3	2	2	1	3	2	3	5			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr21:40569302G>A	ENST00000333229.2	-	41	6020	c.5693C>T	c.(5692-5694)tCc>tTc	p.S1898F	BRWD1_ENST00000342449.3_Missense_Mutation_p.S1898F|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1898F	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1898					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTTTTCCTGGAAATTTTTCT	0.363																																					Melanoma(170;988 1986 4794 16843 39731)												0													85	89	88					21																	40569302		2203	4299	6502	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5693C>T	21.37:g.40569302G>A	ENSP00000330753:p.Ser1898Phe		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S1898F	ENST00000333229.2	37	c.5693	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645118	0.67358	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.49720	0.77;0.77;0.77	5.02	5.02	0.67125	.	0.804886	0.11415	N	0.566383	T	0.54615	0.1869	L	0.55481	1.735	0.80722	D	1	P;B	0.46220	0.874;0.119	P;B	0.51355	0.667;0.077	T	0.53542	-0.8424	10	0.66056	D	0.02	-3.8534	9.7031	0.40198	0.129:0.0:0.871:0.0	.	1898;1898	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	F	1898	ENSP00000330753:S1898F;ENSP00000344333:S1898F;ENSP00000370178:S1898F	ENSP00000330753:S1898F	S	-	2	0	BRWD1	39491172	0.998000	0.40836	0.978000	0.43139	0.815000	0.46073	3.084000	0.50143	2.327000	0.79052	0.655000	0.94253	TCC	BRWD1	-	NULL	ENSG00000185658		0.363	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	-	0	51	0	G	NM_033656		40569302	-1	tier1	-	no_errors	ENST00000333229	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.953	A	A	40569302	G	A	40569302	3	1	36	1	0	0	0	0	1	0	0	0	1529	1174	41	3	1516	3	BRWD1	21	40569302	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	24972474	40569302	7560593	256	8834											
PDE9A	5152	genome.wustl.edu	37	chr21	44189167	44189167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtcagaaggccttcctGtggcaccgttcatggaccga	10	8	12	11	2	2	2	2	0	0	2	3	4	3	3	4	3	0	2	4	3	2	2			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr21:44189167G>T	ENST00000291539.6	+	17	1552	c.1492G>T	c.(1492-1494)Gtg>Ttg	p.V498L	PDE9A_ENST00000335440.6_Missense_Mutation_p.V396L|PDE9A_ENST00000539837.1_Missense_Mutation_p.V370L|PDE9A_ENST00000335512.4_Missense_Mutation_p.V438L|PDE9A_ENST00000398232.3_Missense_Mutation_p.V431L|PDE9A_ENST00000380328.2_Missense_Mutation_p.V445L|PDE9A_ENST00000398227.3_Missense_Mutation_p.V338L|PDE9A_ENST00000349112.3_Missense_Mutation_p.V370L|PDE9A_ENST00000398234.3_Missense_Mutation_p.V397L|PDE9A_ENST00000398224.3_Missense_Mutation_p.V371L|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398229.3_Missense_Mutation_p.V364L|PDE9A_ENST00000398236.3_Missense_Mutation_p.V412L|PDE9A_ENST00000398225.3_Missense_Mutation_p.V457L|PDE9A_ENST00000328862.6_Missense_Mutation_p.V472L	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	498	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	AGGCCTTCCTGTGGCACCGTT	0.512																																																	0													175	148	157					21																	44189167		2203	4300	6503	SO:0001583	missense	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1492G>T	21.37:g.44189167G>T	ENSP00000291539:p.Val498Leu		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.V498L	ENST00000291539.6	37	c.1492	CCDS13690.1	21	.	.	.	.	.	.	.	.	.	.	G	19.50	3.840214	0.71488	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.75	4.75	0.60458	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	M	0.77313	2.365	0.58432	D	0.999999	P;P;D;P;D;D;P;P;P;D;P;D;P;P;P	0.65815	0.663;0.818;0.957;0.818;0.995;0.995;0.818;0.818;0.818;0.957;0.818;0.995;0.818;0.818;0.711	B;P;P;P;D;D;P;B;P;P;P;D;P;P;P	0.73380	0.372;0.492;0.624;0.492;0.98;0.98;0.492;0.364;0.492;0.624;0.492;0.98;0.492;0.492;0.506	D	0.89873	0.4024	10	0.72032	D	0.01	.	17.7454	0.88419	0.0:0.0:1.0:0.0	.	431;412;397;472;457;390;438;281;338;364;370;396;445;371;498	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	L	438;370;498;445;431;397;412;472;396;457;364;338;370;371	ENSP00000335242:V438L;ENSP00000441899:V370L;ENSP00000291539:V498L;ENSP00000369685:V445L;ENSP00000381287:V431L;ENSP00000381289:V397L;ENSP00000381291:V412L;ENSP00000328699:V472L;ENSP00000335365:V396L;ENSP00000381281:V457L;ENSP00000381285:V364L;ENSP00000381283:V338L;ENSP00000344730:V370L;ENSP00000381280:V371L	ENSP00000291539:V498L	V	+	1	0	PDE9A	43062236	1.000000	0.71417	0.913000	0.36048	0.234000	0.25298	7.323000	0.79105	2.190000	0.69967	0.313000	0.20887	GTG	PDE9A	-	pfam_PDEase_catalytic_dom	ENSG00000160191		0.512	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	-	0	68	0	G			44189167	1	tier1	-	no_errors	ENST00000291539	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	44189167	G	T	44189167	3	4	36	1	0	0	0	0	1	0	0	0	11694	1377	48	3	1638	3	PDE9A	21	44189167	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	3619865	44189167	3940728	257	8835											
AIRE	326	genome.wustl.edu	37	chr21	45706439	45706439	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcatgccaccccactgcaGgagacgcttcatctgaagga	10	7	9	15	1	3	2	2	1	1	1	3	4	3	3	4	2	2	2	4	2	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr21:45706439G>T	ENST00000291582.5	+	2	259		c.e2-1			NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator						humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCCCACTGCAGGAGACGCTTC	0.647									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													41	39	40					21																	45706439		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"Zinc fingers, PHD-type"	360	protein-coding gene	gene with protein product	"autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"	607358	"autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.133-1G>T	21.37:g.45706439G>T			B2RP50|O43922|O43932|O75745	Splice_Site	SNP	-	e2-1	ENST00000291582.5	37	c.133-1	CCDS13706.1	21	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851019	0.32699	.	.	ENSG00000160224	ENST00000291582	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.853	0.57869	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIRE	44530867	1.000000	0.71417	0.998000	0.56505	0.233000	0.25261	4.822000	0.62686	2.288000	0.76882	0.591000	0.81541	.	AIRE	-	-	ENSG00000160224		0.647	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2		0	45	0	G		Intron	45706439	1			no_errors	ENST00000291582	ensembl	human	known	74_37	splice_site	19.23	21	5	SNP	1.000	T	T	45706439	G	T	45706439	5	4	36	1	0	0	0	0	0	0	1	0	437	1014	35	3	138	3	AIRE	21	45706439	Splice_Site	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	1517272	45706439	2423456	258	8836											
PI4KA	5297	genome.wustl.edu	37	chr22	21097024	21097024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcagacatctggcctgtgGtgcctgagaaccgaatcatt	9	10	12	10	1	3	2	2	1	1	2	3	4	3	2	3	3	2	0	3	3	2	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr22:21097024G>T	ENST00000572273.1	-	31	3541	c.3311C>A	c.(3310-3312)aCc>aAc	p.T1104N	PI4KA_ENST00000255882.6_Missense_Mutation_p.T1162N			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1104					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGGCCTGTGGTGCCTGAGAA	0.478																																					GBM(136;1332 1831 3115 23601 50806)												0													243	188	207					22																	21097024		2203	4300	6503	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3311C>A	22.37:g.21097024G>T	ENSP00000458238:p.Thr1104Asn		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.T1162N	ENST00000572273.1	37	c.3485		22	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188909	0.38707	.	.	ENSG00000241973	ENST00000255882	T	0.55760	0.5	5.87	4.82	0.62117	.	0.153798	0.64402	D	0.000020	T	0.34890	0.0913	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11397	-1.0589	10	0.17369	T	0.5	-15.4252	17.0749	0.86583	0.0:0.1264:0.8736:0.0	.	1104	P42356	PI4KA_HUMAN	N	1104	ENSP00000255882:T1104N	ENSP00000255882:T1104N	T	-	2	0	PI4KA	19427024	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	3.899000	0.56288	2.778000	0.95560	0.650000	0.86243	ACC	PI4KA	-	NULL	ENSG00000241973		0.478	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding			0	77	0	G	NM_058004		21097024	-1			no_errors	ENST00000255882	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	21097024	G	T	21097024	3	4	36	1	0	0	0	0	1	0	0	0	11912	1261	44	3	2923	3	PI4KA	22	21097024	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		21097024	30207542	259	8837											
LZTR1	8216	genome.wustl.edu	37	chr22	21350282	21350282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgttccggtccttcatGcccgaagatgggcaggtgaa	8	9	13	11	2	1	2	1	1	0	1	3	3	3	2	4	3	1	2	4	3	2	2	rs373975296		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr22:21350282G>T	ENST00000215739.8	+	18	2459	c.2100G>T	c.(2098-2100)atG>atT	p.M700I	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.M681I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	700	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GGTCCTTCATGCCCGAAGATG	0.597																																																	0								G	ILE/MET	0,4406		0,0,2203	99	86	90		2100	5.7	1	22		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	LZTR1	NM_006767.3	10	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	700/841	21350282	1,13005	2203	4300	6503	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2100G>T	22.37:g.21350282G>T	ENSP00000215739:p.Met700Ile		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.M700I	ENST00000215739.8	37	c.2100	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.443165	0.96187	0.0	1.16E-4	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.71341	-0.56;-0.56	5.71	5.71	0.89125	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	M	0.87269	2.87	0.80722	D	1	D;D;D;P	0.69078	0.993;0.985;0.997;0.908	P;D;D;D	0.72338	0.877;0.977;0.967;0.922	D	0.87961	0.2730	10	0.72032	D	0.01	-43.0044	17.337	0.87285	0.0:0.0:1.0:0.0	.	681;412;700;659	B7Z3T9;B2R8T5;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	I	659;700;681	ENSP00000215739:M700I;ENSP00000374006:M681I	ENSP00000215739:M700I	M	+	3	0	LZTR1	19680282	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.798000	0.99111	2.700000	0.92200	0.462000	0.41574	ATG	LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.597	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1		0	44	0	G	NM_006767		21350282	1			no_errors	ENST00000215739	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	21350282	G	T	21350282	3	4	36	1	0	0	0	0	1	0	0	0	9173	1319	46	3	2170	3	LZTR1	22	21350282	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	253258	21350282	29954284	260	8838											
GRAMD4	23151	genome.wustl.edu	37	chr22	47068794	47068794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatctttaaacgctgccCgaggctgcgcgccaagtacg	8	10	10	13	5	2	0	1	0	1	0	2	1	2	0	2	1	4	3	2	1	4	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chr22:47068794C>A	ENST00000406902.1	+	14	1352	c.1139C>A	c.(1138-1140)cCg>cAg	p.P380Q	GRAMD4_ENST00000408031.1_5'Flank|GRAMD4_ENST00000361034.3_Missense_Mutation_p.P380Q			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	380					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AAACGCTGCCCGAGGCTGCGC	0.582																																																	0													65	62	63					22																	47068794		2202	4300	6502	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1139C>A	22.37:g.47068794C>A	ENSP00000385689:p.Pro380Gln		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.P380Q	ENST00000406902.1	37	c.1139	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	c	23.8	4.454069	0.84209	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.43294	0.95;0.95	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000004	T	0.41442	0.1159	L	0.54323	1.7	0.80722	D	1	P	0.48589	0.912	B	0.41510	0.359	T	0.48833	-0.9000	10	0.62326	D	0.03	-33.0747	15.3517	0.74393	0.0:1.0:0.0:0.0	.	380	Q6IC98	GRAM4_HUMAN	Q	380	ENSP00000385689:P380Q;ENSP00000354313:P380Q	ENSP00000354313:P380Q	P	+	2	0	GRAMD4	45447458	1.000000	0.71417	0.944000	0.38274	0.806000	0.45545	7.046000	0.76592	2.294000	0.77228	0.563000	0.77884	CCG	GRAMD4	-	NULL	ENSG00000075240		0.582	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	-	0	52	0	C	NM_015124		47068794	1	tier1	-	no_errors	ENST00000361034	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	47068794	C	A	47068794	3	1	36	1	0	0	0	0	1	0	0	0	6779	652	23	2	1189	2	GRAMD4	22	47068794	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	25718512	47068794	4235772	261	8839											
CSF2RA	1438	genome.wustl.edu	37	chrX	1428408	1428408	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggcatggacatctccGcctccgcgacacgggggaac	9	5	14	13	4	1	0	0	0	1	0	3	4	2	3	3	5	1	1	3	5	2	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chrX:1428408G>A	ENST00000381524.3	+	0	1425				CSF2RA_ENST00000355432.3_Missense_Mutation_p.A354T|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000355805.2_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.A354T(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGACATCTCCGCCTCCGCGAC	0.483													g|||	1	0.000199681	8e-04	0	5008	,	,		20650	0		0	False		,,,				2504	0				Esophageal Squamous(131;723 1707 25334 40494 41806)												1	Substitution - Missense(1)	large_intestine(1)						G	,,,,,THR/ALA,,	1,4405		0,1,2202	256	238	244		,,,,,1060,,	-1.4	0	X	dbSNP_134	244	0,8592		0,0,4296	no	utr-3,utr-3,utr-3,utr-3,utr-3,missense,utr-3,utr-3	CSF2RA	NM_001161529.1,NM_001161530.1,NM_001161532.1,NM_006140.4,NM_172245.2,NM_172246.2,NM_172247.2,NM_172249.2	,,,,,58,,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,	,,,,,354/378,,	1428408	1,12997	2203	4296	6499	SO:0001624	3_prime_UTR_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*36G>A	X.37:g.1428408G>A			A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.A354T	ENST00000381524.3	37	c.1060	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	10.53	1.375564	0.24857	2.27E-4	0.0	ENSG00000198223	ENST00000355432	T	0.43688	0.94	0.69	-1.38	0.09027	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B	0.27117	0.168	B	0.08055	0.003	T	0.13335	-1.0513	7	0.87932	D	0	.	.	.	.	.	355	P15509-5	.	T	354	ENSP00000347606:A354T	ENSP00000347606:A354T	A	+	1	0	CSF2RA	1388408	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.397000	0.02511	-1.238000	0.02535	0.110000	0.15639	GCC	CSF2RA	-	NULL	ENSG00000198223		0.483	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	-	0	336	0	G			1428408	1	tier1	-	no_errors	ENST00000355432	ensembl	human	known	74_37	missense	34.48	152	80	SNP	0.000	A	A	1428408	G	A	1428408	1	1	36	0	1	0	0	0	0	0	0	0	3943	1087	38	1		1	CSF2RA	23	1428408	3'UTR	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09		1428408	153842152	262	8840											
PIR	8544	genome.wustl.edu	37	chrX	15474054	15474054	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttcttcacttttcagttCctggtactgaggctccacca	7	15	7	12	0	3	1	2	1	1	0	5	2	5	1	3	2	1	3	3	2	1	6			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chrX:15474054C>A	ENST00000380421.3	-	5	857	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	PIR_ENST00000476381.1_5'UTR|PIR_ENST00000380420.5_Nonsense_Mutation_p.E133*	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	133					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CTTTTCAGTTCCTGGTACTGA	0.498																																					Ovarian(180;1587 2015 10555 34192 51653)												0													227	217	220					X																	15474054		2203	4300	6503	SO:0001587	stop_gained	0			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.397G>T	X.37:g.15474054C>A	ENSP00000369786:p.Glu133*		Q5U0G0|Q6FHD2	Nonsense_Mutation	SNP	pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	p.E133*	ENST00000380421.3	37	c.397	CCDS14167.1	X	.	.	.	.	.	.	.	.	.	.	C	40	8.246610	0.98724	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	.	.	.	6.04	5.17	0.71159	.	0.146087	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.9321	12.3643	0.55221	0.0:0.915:0.0:0.085	.	.	.	.	X	133	.	ENSP00000369785:E133X	E	-	1	0	PIR	15383975	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	5.416000	0.66417	2.559000	0.86315	0.597000	0.82753	GAA	PIR	-	superfamily_RmlC_Cupin,pirsf_Pirin	ENSG00000087842		0.498	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	-	0	39	0	C	NM_003662		15474054	-1	tier1	-	no_errors	ENST00000380420	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	1.000	A	A	15474054	C	A	15474054	4	1	36	1	0	0	0	0	0	1	0	0	11983	864	30	3	499	3	PIR	23	15474054	Nonsense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	14045646	15474054	139796506	263	8841											
MAGEE1	57692	genome.wustl.edu	37	chrX	75648431	75648431	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccctaatgcccccggtctCcccgctgatgtgccaggctc	4	8	10	19	2	1	1	0	1	1	0	3	1	1	1	7	2	2	2	7	2	1	1			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chrX:75648431C>T	ENST00000361470.2	+	1	386	c.108C>T	c.(106-108)ctC>ctT	p.L36L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	36						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCCCGGTCTCCCCGCTGATG	0.672																																																	0													21	19	20					X																	75648431		2146	4210	6356	SO:0001819	synonymous_variant	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.108C>T	X.37:g.75648431C>T			Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L36	ENST00000361470.2	37	c.108	CCDS14433.1	X																																																																																			MAGEE1	-	NULL	ENSG00000198934		0.672	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0	95	0	C	NM_020932		75648431	1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	silent	72.86	19	51	SNP	0.001	T	T	75648431	C	T	75648431	2	4	36	1	0	0	0	0	0	0	0	1	9223	842	30	3		3	MAGEE1	23	75648431	Silent	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	60174377	75648431	79622129	264	8842											
VSIG1	340547	genome.wustl.edu	37	chrX	107320559	107320559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagccagagtcagagcctgGggttgtagttgagcccttaa	10	9	14	8	0	1	4	1	1	0	3	1	4	1	4	3	2	3	3	3	2	2	4			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chrX:107320559G>T	ENST00000217957.5	+	7	1229	c.1112G>T	c.(1111-1113)gGg>gTg	p.G371V	VSIG1_ENST00000415430.3_Missense_Mutation_p.G407V	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	371						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						tcagagccTGGGGTTGTAGTT	0.527																																																	0													97	94	95					X																	107320559		2203	4300	6503	SO:0001583	missense	0			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1112G>T	X.37:g.107320559G>T	ENSP00000217957:p.Gly371Val		C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G407V	ENST00000217957.5	37	c.1220	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	8.795	0.931469	0.18131	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.76060	-0.99;-0.75	4.2	-5.95	0.02241	.	3.334180	0.01682	N	0.026198	T	0.61426	0.2346	L	0.43152	1.355	0.18873	N	0.999985	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.39165	-0.9627	10	0.48119	T	0.1	.	2.0377	0.03543	0.5068:0.1171:0.1537:0.2225	.	407;371	C9J4P2;Q86XK7	.;VSIG1_HUMAN	V	407;371	ENSP00000402219:G407V;ENSP00000217957:G371V	ENSP00000217957:G371V	G	+	2	0	VSIG1	107207215	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.563000	0.02154	-2.005000	0.00959	-1.144000	0.01866	GGG	VSIG1	-	NULL	ENSG00000101842		0.527	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	-	0	65	0	G	NM_182607		107320559	1	tier1	-	no_errors	ENST00000415430	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	T	T	107320559	G	T	107320559	3	4	36	1	0	0	0	0	1	0	0	0	17271	1232	43	3	1250	3	VSIG1	23	107320559	Missense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	31672128	107320559	47950001	265	8843											
DCX	1641	genome.wustl.edu	37	chrX	110644499	110644499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaccagttgggattgaCattcttggtgtactccacct	9	12	10	10	0	1	2	0	1	1	1	2	4	2	3	3	2	1	2	3	2	1	5	rs146279155		TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chrX:110644499C>A	ENST00000338081.3	-	3	838	c.667G>T	c.(667-669)Gtc>Ttc	p.V223F	DCX_ENST00000371993.2_Missense_Mutation_p.V142F|DCX_ENST00000356220.3_Missense_Mutation_p.V142F|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.V142F|DCX_ENST00000356915.2_Missense_Mutation_p.V142F	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	223					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTGGGATTGACATTCTTGGTG	0.443																																																	0													126	115	119					X																	110644499		2203	4300	6503	SO:0001583	missense	0			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.667G>T	X.37:g.110644499C>A	ENSP00000337697:p.Val223Phe		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.V223F	ENST00000338081.3	37	c.667	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.385764|2.385764	0.42308|0.42308	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000358070|ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	.|D;D;D;D;D	.|0.86366	.|-2.11;-2.11;-2.11;-2.11;-2.11	4.74|4.74	4.74|4.74	0.60224|0.60224	.|Doublecortin domain (2);	.|0.138741	.|0.47852	.|D	.|0.000219	D|D	0.88175|0.88175	0.6366|0.6366	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|B;B	.|0.15141	.|0.012;0.012	.|B;B	.|0.21708	.|0.036;0.036	D|D	0.86229|0.86229	0.1636|0.1636	5|10	.|0.52906	.|T	.|0.07	.|.	17.6068|17.6068	0.88040|0.88040	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|211;223	.|B4DM53;O43602	.|.;DCX_HUMAN	I|F	214|142;142;223;142;142	.|ENSP00000349385:V142F;ENSP00000361061:V142F;ENSP00000337697:V223F;ENSP00000348553:V142F;ENSP00000419861:V142F	.|ENSP00000337697:V223F	M|V	-|-	3|1	0|0	DCX|DCX	110531155|110531155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.980000|5.980000	0.70516|0.70516	2.283000|2.283000	0.76528|0.76528	0.600000|0.600000	0.82982|0.82982	ATG|GTC	DCX	-	pirsf_Doublecortin_chordata	ENSG00000077279		0.443	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	-	0	24	0	C	NM_178153		110644499	-1	tier1	-	no_errors	ENST00000338081	ensembl	human	known	74_37	missense	87.50	3	21	SNP	1.000	A	A	110644499	C	A	110644499	3	1	36	1	0	0	0	0	1	0	0	0	4327	478	17	3	693	3	DCX	23	110644499	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09	3323940	110644499	44626061	266	8844											
RBMX2	51634	genome.wustl.edu	37	chrX	129546511	129546511	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagaagtcagagcccaggGaggggcagaagctccccaaa	13	3	13	12	0	2	3	2	0	0	3	3	4	3	4	3	3	2	2	3	3	3	0			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chrX:129546511G>T	ENST00000305536.6	+	6	722	c.658G>T	c.(658-660)Gag>Tag	p.E220*		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	220	Lys-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGCCCAGGGAGGGGCAGAA	0.552																																																	0													51	52	51					X																	129546511		1931	4126	6057	SO:0001587	stop_gained	0			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.658G>T	X.37:g.129546511G>T	ENSP00000339090:p.Glu220*		A8K9Z0|Q5JY82|Q9Y3I8	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E220*	ENST00000305536.6	37	c.658	CCDS43993.1	X	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450389	0.63290	.	.	ENSG00000134597	ENST00000305536;ENST00000538614	.	.	.	4.53	3.66	0.41972	.	4.793380	0.00357	N	0.000023	.	.	.	.	.	.	0.20307	N	0.999914	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	6.6686	0.23056	0.1281:0.0:0.8719:0.0	.	.	.	.	X	220	.	ENSP00000339090:E220X	E	+	1	0	RBMX2	129374192	0.994000	0.37717	0.381000	0.26106	0.163000	0.22366	3.885000	0.56182	2.224000	0.72417	0.600000	0.82982	GAG	RBMX2	-	NULL	ENSG00000134597		0.552	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	-	0	47	0	G	NM_016024		129546511	1	tier1	-	no_errors	ENST00000305536	ensembl	human	known	74_37	nonsense	10.26	35	4	SNP	0.167	T	T	129546511	G	T	129546511	4	4	36	1	0	0	0	0	0	1	0	0	13197	1175	41	3	680	3	RBMX2	23	129546511	Nonsense_Mutation	SNP	G	TCGA-JY-A6FB-01A-11D-A33E-09	18902012	129546511	25724049	267	8845											
UTY	7404	genome.wustl.edu	37	chrY	15417345	15417345	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccagaatggtatgccCaacatgggttagaagatttc	12	10	10	9	0	0	3	0	0	0	3	1	3	0	3	2	2	3	2	2	2	5	3			TCGA-JY-A6FB-01A-11D-A33E-09	TCGA-JY-A6FB-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	138d85b0-61a1-4cbd-ae9e-62acd1b86975	85f3edf1-90bf-4475-ac77-633a9b295eda	g.chrY:15417345C>G	ENST00000331397.4	-	22	4215	c.3208G>C	c.(3208-3210)Ggg>Cgg	p.G1070R	AC010877.1_ENST00000595988.1_5'Flank|UTY_ENST00000382896.4_Missense_Mutation_p.G1115R|UTY_ENST00000362096.4_Missense_Mutation_p.G1070R|UTY_ENST00000537580.1_Missense_Mutation_p.G991R	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1070	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						ATGGTATGCCCAACATGGGTT	0.413																																					Colon(103;1740 2135 40732 45171)												0													49	54	53					Y																	15417345		588	1929	2517	SO:0001583	missense	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.3208G>C	Y.37:g.15417345C>G	ENSP00000328939:p.Gly1070Arg		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G1115R	ENST00000331397.4	37	c.3343	CCDS14783.1	Y																																																																																			UTY	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000183878		0.413	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1	-	0	34	0	C	NM_182660		15417345	-1	tier1	-	no_errors	ENST00000382896	ensembl	human	known	74_37	missense	58.06	13	18	SNP	1.000	G	G	15417345	C	G	15417345	3	3	36	1	0	0	0	0	1	0	0	0	17156	594	21	5	867	5	UTY	24	15417345	Missense_Mutation	SNP	C	TCGA-JY-A6FB-01A-11D-A33E-09		15417345	43956221	268	8846											
ACAP3	116983	genome.wustl.edu	37	chr1	1238596	1238596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggtcgcggacgccgctcacGaaaagcctgctggtgctgac	8	6	14	13	5	1	1	1	1	0	0	2	3	1	2	2	3	3	3	2	3	2	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:1238596G>C	ENST00000354700.5	-	3	373	c.171C>G	c.(169-171)ttC>ttG	p.F57L	ACAP3_ENST00000353662.3_Missense_Mutation_p.F15L	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	57					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGCCGCTCACGAAAAGCCTGC	0.662																																																	0													73	53	60					1																	1238596		2192	4283	6475	SO:0001583	missense	0			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.171C>G	1.37:g.1238596G>C	ENSP00000346733:p.Phe57Leu		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.F15L	ENST00000354700.5	37	c.45	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559251	0.45590	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.04603	3.59;3.59	3.33	-1.22	0.09494	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	M	0.67953	2.075	0.35692	D	0.814912	P;D;D	0.76494	0.937;0.999;0.996	D;D;D	0.77004	0.927;0.989;0.988	T	0.02173	-1.1201	10	0.59425	D	0.04	.	8.9386	0.35715	0.7085:0.0:0.2915:0.0	.	97;57;15	Q5TA40;Q96P50;Q96P50-1	.;ACAP3_HUMAN;.	L	57;15	ENSP00000346733:F57L;ENSP00000321139:F15L	ENSP00000321139:F15L	F	-	3	2	ACAP3	1228459	0.481000	0.25941	0.990000	0.47175	0.621000	0.37620	-0.289000	0.08365	-0.250000	0.09555	-0.439000	0.05793	TTC	ACAP3	-	NULL	ENSG00000131584		0.662	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2		0	18	0	G	NM_030649		1238596	-1			no_errors	ENST00000353662	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.997	C	C	1238596	G	C	1238596	3	2	37	1	0	0	0	0	1	0	0	0	120	1049	37	5	2421	5	ACAP3	1	1238596	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		1238596	248012025	1	8847											
MEGF6	1953	genome.wustl.edu	37	chr1	3431144	3431144	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgccgtccgctgctagctGatagcccacgtggcactcac	6	9	10	16	3	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:3431144G>A	ENST00000356575.4	-	7	1049	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	MEGF6_ENST00000294599.4_Nonsense_Mutation_p.Q170*	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	275	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCTGCTAGCTGATAGCCCACG	0.687																																					Ovarian(73;978 3658)												0													18	28	25					1																	3431144		2068	4184	6252	SO:0001587	stop_gained	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.823C>T	1.37:g.3431144G>A	ENSP00000348982:p.Gln275*		Q4AC86|Q5VV39	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.Q275*	ENST00000356575.4	37	c.823	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726495	0.89298	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	.	.	.	4.31	2.43	0.29744	.	0.735551	0.12721	N	0.444668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-2.1998	4.2559	0.10717	0.1807:0.0:0.5211:0.2982	.	.	.	.	X	170;275	.	ENSP00000294599:Q170X	Q	-	1	0	MEGF6	3421004	0.141000	0.22595	0.745000	0.31077	0.123000	0.20343	0.468000	0.22051	0.453000	0.26858	0.484000	0.47621	CAG	MEGF6	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom	ENSG00000162591		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0	29	0	G	NM_001409		3431144	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	nonsense	41.67	7	5	SNP	0.246	A	A	3431144	G	A	3431144	4	1	37	1	0	0	0	0	0	1	0	0	9500	1299	45	3	3926	3	MEGF6	1	3431144	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2192548	3431144	245819477	2	8848											
CHD5	26038	genome.wustl.edu	37	chr1	6188558	6188558	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgggctgggttggcccctaCctggcggggtgctaccgtgc	2	9	17	13	2	0	0	0	0	0	0	0	0	0	0	4	6	4	3	4	6	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:6188558C>T	ENST00000262450.3	-	24	3830		c.e24+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGGCCCCTACCTGGCGGGGT	0.662																																																	0													45	50	49					1																	6188558		2203	4300	6503	SO:0001630	splice_region_variant	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3730+1G>A	1.37:g.6188558C>T			A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	-	e24+1	ENST00000262450.3	37	c.3730+1	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557837	0.45590	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000378021;ENST00000536802;ENST00000538279;ENST00000377999	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2441	0.73493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6111145	1.000000	0.71417	0.998000	0.56505	0.461000	0.32589	4.923000	0.63412	2.265000	0.75225	0.462000	0.41574	.	CHD5	-	-	ENSG00000116254		0.662	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	-	0	84	0	C	NM_015557	Intron	6188558	-1	tier1	-	no_errors	ENST00000262450	ensembl	human	known	74_37	splice_site	6.78	55	4	SNP	1.000	T	T	6188558	C	T	6188558	5	4	37	1	0	0	0	0	0	0	1	0	3335	521	18	3	2205	3	CHD5	1	6188558	Splice_Site	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	2757414	6188558	243062063	3	8849											
PADI6	353238	genome.wustl.edu	37	chr1	17698739	17698739	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcggtgcaggcctgaGgatggtcagcgtggagggcc	5	6	21	9	2	1	1	1	1	0	0	1	3	1	3	2	7	3	2	2	7	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:17698739G>T	ENST00000434762.2	+	0	49							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGGCCTGAGGATGGTCAGC	0.622																																																	0													111	124	120					1																	17698739		2193	4289	6482			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17698739G>T			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.622	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	-	0	41	0	G	NM_207421		17698739	1	tier1	-	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	8.16	45	4	SNP	0.027	T	T	17698739	G	T	17698739	1	4	37	0	1	0	0	0	0	0	0	0	11420	1015	35	3		3	PADI6	1	17698739	RNA	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	11510181	17698739	231551882	4	8850											
TMEM57	55219	genome.wustl.edu	37	chr1	25785138	25785138	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattaaataatgatcttgtGggaagtacagaaaatctctt	16	13	8	4	0	2	3	0	1	2	2	3	4	2	4	0	1	1	1	0	1	7	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:25785138G>T	ENST00000374343.4	+	6	1088	c.909G>T	c.(907-909)gtG>gtT	p.V303V	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	303					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ATGATCTTGTGGGAAGTACAG	0.328																																																	0													85	91	89					1																	25785138		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.909G>T	1.37:g.25785138G>T			B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Silent	SNP	pfam_Macoilin,superfamily_Prefoldin	p.V303	ENST00000374343.4	37	c.909	CCDS30638.1	1																																																																																			TMEM57	-	pfam_Macoilin	ENSG00000204178		0.328	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2		0	14	0	G	NM_018202		25785138	1			no_errors	ENST00000374343	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	25785138	G	T	25785138	2	4	37	1	0	0	0	0	0	0	0	1	16231	1335	47	3		3	TMEM57	1	25785138	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	8086399	25785138	223465483	5	8851											
SLC6A9	6536	genome.wustl.edu	37	chr1	44466463	44466463	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggcgggagagacgaaGcgccagcagatctgaaagaa	15	4	15	7	3	1	5	0	2	1	3	1	8	1	6	1	2	2	1	1	2	3	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:44466463G>T	ENST00000360584.2	-	12	1922	c.1731C>A	c.(1729-1731)cgC>cgA	p.R577R	SLC6A9_ENST00000372306.3_Missense_Mutation_p.L534I|SLC6A9_ENST00000372307.3_Silent_p.R439R|SLC6A9_ENST00000372310.3_Silent_p.R504R|SLC6A9_ENST00000475075.2_Silent_p.R393R|SLC6A9_ENST00000357730.2_Silent_p.R523R	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	577					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	GAGAGACGAAGCGCCAGCAGA	0.622																																																	0													61	64	63					1																	44466463		2203	4300	6503	SO:0001819	synonymous_variant	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1731C>A	1.37:g.44466463G>T			A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.L534I	ENST00000360584.2	37	c.1600	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147477	0.37923	.	.	ENSG00000196517	ENST00000372306	T	0.76060	-0.99	5.7	-1.13	0.09775	.	.	.	.	.	T	0.56062	0.1960	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52290	-0.8595	8	0.54805	T	0.06	.	1.2593	0.01998	0.2697:0.1775:0.3847:0.168	.	534	B7Z8W5	.	I	534	ENSP00000361380:L534I	ENSP00000361380:L534I	L	-	1	0	SLC6A9	44239050	0.833000	0.29383	1.000000	0.80357	0.951000	0.60555	-0.122000	0.10627	0.330000	0.23485	0.591000	0.81541	CTT	SLC6A9	-	NULL	ENSG00000196517		0.622	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2		0	74	0	G	NM_201649		44466463	-1			no_errors	ENST00000372306	ensembl	human	putative	74_37	missense	5.41	70	4	SNP	0.933	T	T	44466463	G	T	44466463	2	4	37	1	0	0	0	0	0	0	0	1	14736	958	34	3		3	SLC6A9	1	44466463	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	18681325	44466463	204784158	6	8852											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52897011	52897011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggggaggttgggctcccTgctgaggtgggccaagctta	6	9	18	8	0	0	1	0	1	0	0	1	3	1	2	2	6	2	4	2	6	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:52897011T>A	ENST00000371544.3	-	28	4644	c.4382A>T	c.(4381-4383)cAg>cTg	p.Q1461L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Q1462L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1461	Gln-rich.|Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGGGCTCCCTGCTGAGGTGG	0.537																																																	0													103	90	94					1																	52897011		2203	4300	6503	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4382A>T	1.37:g.52897011T>A	ENSP00000360599:p.Gln1461Leu		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q1462L	ENST00000371544.3	37	c.4385	CCDS30716.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.50|10.50	1.366301|1.366301	0.24771|0.24771	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722|ENST00000494469	T;T|.	0.49432|.	0.78;0.78|.	5.37|5.37	4.18|4.18	0.49190|0.49190	.|.	0.381365|.	0.25517|.	N|.	0.030138|.	T|T	0.42720|0.42720	0.1215|0.1215	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D|.	0.53151|.	0.958|.	P|.	0.45343|.	0.477|.	T|T	0.26643|0.26643	-1.0097|-1.0097	10|5	0.27082|.	T|.	0.32|.	.|.	11.6693|11.6693	0.51391|0.51391	0.0:0.0:0.3486:0.6514|0.0:0.0:0.3486:0.6514	.|.	1461|.	Q5TAX3|.	TUT4_HUMAN|.	L|W	1462;1461;299|34	ENSP00000257177:Q1462L;ENSP00000360599:Q1461L|.	ENSP00000257177:Q1462L|.	Q|R	-|-	2|1	0|2	ZCCHC11|ZCCHC11	52669599|52669599	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.641000|0.641000	0.38312|0.38312	3.423000|3.423000	0.52756|0.52756	2.036000|2.036000	0.60181|0.60181	0.455000|0.455000	0.32223|0.32223	CAG|AGG	ZCCHC11	-	NULL	ENSG00000134744		0.537	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0	62	0	T	XM_038288		52897011	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	29.17	51	21	SNP	1.000	A	A	52897011	T	A	52897011	3	1	37	1	0	0	0	0	1	0	0	0	17628	1580	55	5	564	5	ZCCHC11	1	52897011	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	8430548	52897011	196353610	7	8853											
TTLL7	79739	genome.wustl.edu	37	chr1	84376889	84376889	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggttggagggtttaagaTtatatgtaacttgcttttct	9	18	11	3	0	1	1	0	0	1	1	1	2	1	2	0	3	2	4	0	3	4	9			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:84376889T>A	ENST00000260505.8	-	15	2122	c.1745A>T	c.(1744-1746)aAt>aTt	p.N582I	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	582					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGGTTTAAGATTATATGTAAC	0.303																																																	0													234	235	235					1																	84376889		2203	4300	6503	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1745A>T	1.37:g.84376889T>A	ENSP00000260505:p.Asn582Ile		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.N582I	ENST00000260505.8	37	c.1745	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	T	6.811	0.518727	0.13005	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03772	3.81	5.53	-0.341	0.12639	.	0.819934	0.11233	N	0.585416	T	0.00875	0.0029	N	0.14661	0.345	0.09310	N	1	B	0.29805	0.257	B	0.29267	0.1	T	0.46803	-0.9165	10	0.48119	T	0.1	.	4.7759	0.13178	0.0:0.1921:0.2933:0.5146	.	582	Q6ZT98	TTLL7_HUMAN	I	582;359;582	ENSP00000260505:N582I	ENSP00000260505:N582I	N	-	2	0	TTLL7	84149477	0.979000	0.34478	0.000000	0.03702	0.006000	0.05464	2.043000	0.41231	-0.303000	0.08856	-0.619000	0.04042	AAT	TTLL7	-	NULL	ENSG00000137941		0.303	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	-	0	32	0	T	NM_024686		84376889	-1	tier1	-	no_errors	ENST00000260505	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.002	A	A	84376889	T	A	84376889	3	1	37	1	0	0	0	0	1	0	0	0	16781	1493	52	5	946	5	TTLL7	1	84376889	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	31479878	84376889	164873732	8	8854											
GBP1	2633	genome.wustl.edu	37	chr1	89520389	89520389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttaagagcgagggtcctCtcttgctctttcagcaactg	8	13	10	10	1	3	1	1	0	2	1	5	2	4	1	1	1	4	3	1	1	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:89520389C>G	ENST00000370473.4	-	10	1860	c.1641G>C	c.(1639-1641)gaG>gaC	p.E547D	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	547					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CGAGGGTCCTCTCTTGCTCTT	0.448																																																	0													223	217	219					1																	89520389		2203	4300	6503	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1641G>C	1.37:g.89520389C>G	ENSP00000359504:p.Glu547Asp		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.E547D	ENST00000370473.4	37	c.1641	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059680	0.19987	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.57595	0.39	4.67	-0.822	0.10819	Guanylate-binding protein, C-terminal (3);	0.376773	0.26156	N	0.026020	T	0.21841	0.0526	L	0.60957	1.885	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.28106	-1.0054	10	0.46703	T	0.11	.	5.3744	0.16156	0.0:0.4455:0.1372:0.4173	.	547	P32455	GBP1_HUMAN	D	547;510	ENSP00000359504:E547D	ENSP00000359504:E547D	E	-	3	2	GBP1	89292977	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.491000	0.02302	-0.488000	0.06726	-0.326000	0.08463	GAG	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.448	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	-	0	31	0	C	NM_002053		89520389	-1	tier1	-	no_errors	ENST00000370473	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.000	G	G	89520389	C	G	89520389	3	3	37	1	0	0	0	0	1	0	0	0	6298	912	32	5	145	5	GBP1	1	89520389	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	5143500	89520389	159730232	9	8855											
COL11A1	1301	genome.wustl.edu	37	chr1	103379194	103379194	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagtgcatttactcaccGgttgaccaggatctccatct	10	13	7	11	1	3	1	1	1	2	0	4	2	3	2	3	2	2	2	3	2	3	4	rs528959090		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:103379194G>T	ENST00000370096.3	-	53	4343	c.4031C>A	c.(4030-4032)cCg>cAg	p.P1344Q	COL11A1_ENST00000353414.4_Splice_Site_p.P1305Q|COL11A1_ENST00000512756.1_Splice_Site_p.P1228Q|COL11A1_ENST00000358392.2_Splice_Site_p.P1356Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1344	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTACTCACCGGTTGACCAGG	0.343																																																	0													124	123	124					1																	103379194		2203	4300	6503	SO:0001630	splice_region_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4032+1C>A	1.37:g.103379194G>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P1356Q	ENST00000370096.3	37	c.4067	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855279	0.32791	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19	5.31	4.37	0.52481	.	0.062065	0.64402	N	0.000003	D	0.92371	0.7579	L	0.37897	1.145	0.80722	D	1	B;B;P;B;B	0.46912	0.028;0.047;0.886;0.028;0.027	B;B;P;B;B	0.61070	0.017;0.039;0.883;0.017;0.039	D	0.93574	0.6906	10	0.87932	D	0	.	14.0986	0.65039	0.0:0.0:0.8484:0.1516	.	1228;1305;1356;1344;564	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	Q	1344;1356;1305;564;1228	ENSP00000359114:P1344Q;ENSP00000351163:P1356Q;ENSP00000302551:P1305Q;ENSP00000426533:P1228Q	ENSP00000302551:P1305Q	P	-	2	0	COL11A1	103151782	1.000000	0.71417	0.987000	0.45799	0.103000	0.19146	6.029000	0.70895	1.188000	0.43014	0.585000	0.79938	CCG	COL11A1	-	NULL	ENSG00000060718		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	74	0	G	NM_080630	Missense_Mutation	103379194	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	18.97	46	11	SNP	1.000	T	T	103379194	G	T	103379194	5	4	37	1	0	0	0	0	0	0	1	0	3674	1130	39	2	1449	2	COL11A1	1	103379194	Splice_Site	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	13858805	103379194	145871427	10	8856											
CHIA	27159	genome.wustl.edu	37	chr1	111860635	111860635	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacatccatgtcatgacCtacgacctccatggctcctg	9	10	7	15	1	1	1	1	1	0	0	4	3	4	1	5	1	2	1	5	1	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:111860635C>A	ENST00000369740.1	+	8	736	c.633C>A	c.(631-633)acC>acA	p.T211T	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Silent_p.T211T|CHIA_ENST00000451398.2_Silent_p.T50T|CHIA_ENST00000353665.6_Silent_p.T50T|CHIA_ENST00000483391.1_Silent_p.T50T|CHIA_ENST00000430615.1_Silent_p.T103T	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	211	Chitooligosaccharide binding. {ECO:0000305}.				apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.T103T(1)|p.T211T(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		ATGTCATGACCTACGACCTCC	0.537																																																	2	Substitution - coding silent(2)	endometrium(2)											98	91	93					1																	111860635		2203	4300	6503	SO:0001819	synonymous_variant	0			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.633C>A	1.37:g.111860635C>A			Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Silent	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.T211	ENST00000369740.1	37	c.633	CCDS41368.1	1																																																																																			CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000134216		0.537	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1		0	53	0	C			111860635	1			no_errors	ENST00000343320	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.999	A	A	111860635	C	A	111860635	2	1	37	1	0	0	0	0	0	0	0	1	3349	668	24	3		3	CHIA	1	111860635	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	8481441	111860635	137389986	11	8857											
OVGP1	5016	genome.wustl.edu	37	chr1	111964264	111964264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaacttccatgtaagtCataagacaagacattgatga	15	11	6	9	0	1	4	1	2	0	2	3	4	3	4	2	0	1	1	2	0	4	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:111964264C>A	ENST00000369732.3	-	7	695	c.640G>T	c.(640-642)Gac>Tac	p.D214Y	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Intron	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	214					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCATGTAAGTCATAAGACAAG	0.458																																																	0													88	91	90					1																	111964264		2203	4300	6503	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.640G>T	1.37:g.111964264C>A	ENSP00000358747:p.Asp214Tyr		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.D214Y	ENST00000369732.3	37	c.640	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623408	0.66901	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.25912	1.77	5.08	5.08	0.68730	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75932	-0.3143	10	0.87932	D	0	-34.5035	15.9896	0.80193	0.0:1.0:0.0:0.0	.	214;278	Q12889;Q59HH5	OVGP1_HUMAN;.	Y	214;278;22	ENSP00000358747:D214Y	ENSP00000358743:D278Y	D	-	1	0	OVGP1	111765787	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	6.691000	0.74573	2.635000	0.89317	0.491000	0.48974	GAC	OVGP1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000085465		0.458	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0	49	0	C	NM_002557		111964264	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	A	A	111964264	C	A	111964264	3	1	37	1	0	0	0	0	1	0	0	0	11364	826	29	3	1416	3	OVGP1	1	111964264	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	103629	111964264	137286357	12	8858											
TSHB	7252	genome.wustl.edu	37	chr1	115576687	115576687	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggactgtagaaataccaGgatgcccactccatgttgct	12	9	9	11	0	0	1	0	0	0	1	1	3	1	3	3	2	3	3	3	2	3	3	rs190110651	byFrequency	TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:115576687G>T	ENST00000369517.1	+	2	256	c.256G>T	c.(256-258)Gga>Tga	p.G86*	TSHB_ENST00000256592.1_Nonsense_Mutation_p.G86*			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta	86					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		AGAAATACCAGGATGCCCACT	0.433																																																	0													232	219	224					1																	115576687		2203	4300	6503	SO:0001587	stop_gained	0			BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"Endogenous ligands"	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.256G>T	1.37:g.115576687G>T	ENSP00000358530:p.Gly86*		B1AKP0|Q16163	Nonsense_Mutation	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.G86*	ENST00000369517.1	37	c.256	CCDS880.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719581	0.89205	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.0016	19.9359	0.97142	0.0:0.0:1.0:0.0	.	.	.	.	X	86	.	ENSP00000256592:G86X	G	+	1	0	TSHB	115378210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.920000	0.87521	2.814000	0.96858	0.655000	0.94253	GGA	TSHB	-	pfam_Cys_knot,smart_Gonadotropin_bsu	ENSG00000134200		0.433	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHB	HGNC	protein_coding	OTTHUMT00000032833.2	-	0	58	0	G	NM_000549		115576687	1	tier1	-	no_errors	ENST00000256592	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T	T	115576687	G	T	115576687	4	4	37	1	0	0	0	0	0	1	0	0	16669	1001	35	3	262	3	TSHB	1	115576687	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3612423	115576687	133673934	13	8859											
SPAG17	200162	genome.wustl.edu	37	chr1	118558800	118558801	+	Frame_Shift_Del	DEL	TT	TT	-																															tgatgactgacttttgtgacTttttcctgtgaagttcaagt																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:118558800_118558801delTT	ENST00000336338.5	-	29	4139_4140	c.4074_4075delAA	c.(4072-4077)aaaagtfs	p.S1359fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1359						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTTTGTGACTTTTTCCTGTGA	0.381																																																	0										1,4265		0,1,2132						2.7	1			113	0,8254		0,0,4127	no	frameshift	SPAG17	NM_206996.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4074_4075delAA	1.37:g.118558802_118558803delTT	ENSP00000337804:p.Ser1359fs		Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	NULL	p.H1360fs	ENST00000336338.5	37	c.4075_4074	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.381	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1		0	37	0	TT	NM_206996		118558801	-1	tier1		no_errors	ENST00000336338	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	0.965:0.981	-	-	118558801	TT	-	118558800	7	5	37	1	0	1	0	1	0	0	0	0	15026	1609	56	0	2676	0	SPAG17	1	118558800	Frame_Shift_Del	DEL	TT	TCGA-JY-A6FD-01A-11D-A33E-09	2982113	118558800	130691821	14	8860											
NPR1	4881	genome.wustl.edu	37	chr1	153653735	153653735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagttaaaacacctggcctAtgagcagttcaacttcacca	13	9	7	12	0	2	1	2	1	0	0	2	1	2	1	3	1	3	4	3	1	4	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:153653735A>G	ENST00000368680.3	+	3	1473	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	NPR1_ENST00000413826.1_Intron	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	334					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CACCTGGCCTATGAGCAGTTC	0.537																																					Pancreas(141;1349 1870 15144 15830 40702)												0													75	80	78					1																	153653735		2203	4300	6503	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1001A>G	1.37:g.153653735A>G	ENSP00000357669:p.Tyr334Cys		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.Y334C	ENST00000368680.3	37	c.1001	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	A	9.097	1.003133	0.19121	.	.	ENSG00000169418	ENST00000368680	D	0.82711	-1.64	5.06	-10.1	0.00402	Extracellular ligand-binding receptor (1);	1.178950	0.06105	N	0.666023	T	0.36303	0.0962	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.17098	0.017	T	0.46133	-0.9213	10	0.62326	D	0.03	.	4.7623	0.13113	0.326:0.0:0.2804:0.3936	.	334	P16066	ANPRA_HUMAN	C	334	ENSP00000357669:Y334C	ENSP00000357669:Y334C	Y	+	2	0	NPR1	151920359	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-1.757000	0.01811	-2.706000	0.00396	-1.122000	0.02009	TAT	NPR1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000169418		0.537	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1		0	34	0	A	NM_000906		153653735	1			no_errors	ENST00000368680	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.000	G	G	153653735	A	G	153653735	3	3	37	1	0	0	0	0	1	0	0	0	10633	449	16	4	1011	4	NPR1	1	153653735	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	35094935	153653735	95596886	15	8861											
CD1C	911	genome.wustl.edu	37	chr1	158262075	158262075	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcgtcacagaaacagTgtataatctcataagaagca	17	8	9	7	1	2	3	2	1	1	2	3	3	2	3	0	1	2	2	0	1	6	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:158262075T>A	ENST00000368170.3	+	3	809	c.530T>A	c.(529-531)gTg>gAg	p.V177E		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	177					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ACAGAAACAGTGTATAATCTC	0.473																																																	0													292	292	292					1																	158262075		2203	4300	6503	SO:0001583	missense	0			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.530T>A	1.37:g.158262075T>A	ENSP00000357152:p.Val177Glu		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V177E	ENST00000368170.3	37	c.530	CCDS1175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.318|9.318	1.057360|1.057360	0.19907|0.19907	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170	.|T	.|0.17691	.|2.26	3.36|3.36	-1.76|-1.76	0.08006|0.08006	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.521986	.|0.14328	.|N	.|0.326564	T|T	0.07638|0.07638	0.0192|0.0192	M|M	0.83223|0.83223	2.63|2.63	0.09310|0.09310	N|N	1|1	.|B	.|0.34329	.|0.449	.|B	.|0.27076	.|0.076	T|T	0.14783|0.14783	-1.0460|-1.0460	5|10	.|0.87932	.|D	.|0	.|.	7.3382|7.3382	0.26621|0.26621	0.0:0.4748:0.0:0.5252|0.0:0.4748:0.0:0.5252	.|.	.|177	.|P29017	.|CD1C_HUMAN	R|E	111|177	.|ENSP00000357152:V177E	.|ENSP00000357151:V177E	S|V	+|+	3|2	2|0	CD1C|CD1C	156528699|156528699	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.443000|0.443000	0.21644|0.21644	-0.362000|-0.362000	0.08113|0.08113	-0.923000|-0.923000	0.02734|0.02734	AGT|GTG	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.473	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	-	0	43	0	T	NM_001765		158262075	1	tier1	-	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.000	A	A	158262075	T	A	158262075	3	1	37	1	0	0	0	0	1	0	0	0	2983	1696	59	5	540	5	CD1C	1	158262075	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	4608340	158262075	90988546	16	8862											
PPOX	5498	genome.wustl.edu	37	chr1	161140274	161140274	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactcagttgctttccctGagcaggacgggagcccccct	7	9	11	14	1	1	2	1	2	0	0	2	4	2	4	4	2	3	3	4	2	0	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:161140274G>T	ENST00000367999.4	+	10	1329	c.1063G>T	c.(1063-1065)Gag>Tag	p.E355*	PPOX_ENST00000352210.5_Nonsense_Mutation_p.E355*|PPOX_ENST00000432542.2_Nonsense_Mutation_p.E100*|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	355					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGCTTTCCCTGAGCAGGACGG	0.542																																																	0													95	92	93					1																	161140274		2203	4300	6503	SO:0001587	stop_gained	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1063G>T	1.37:g.161140274G>T	ENSP00000356978:p.Glu355*		D3DVG0|Q5VTW8	Nonsense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.E355*	ENST00000367999.4	37	c.1063	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.660002	0.97743	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542	.	.	.	5.42	5.42	0.78866	.	0.169819	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-10.1371	14.5794	0.68274	0.0:0.0:1.0:0.0	.	.	.	.	X	355;355;322;100	.	ENSP00000343943:E355X	E	+	1	0	PPOX	159406898	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	1.833000	0.39161	2.820000	0.97059	0.650000	0.86243	GAG	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.542	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1		0	32	0	G	NM_000309		161140274	1			no_errors	ENST00000352210	ensembl	human	known	74_37	nonsense	19.23	21	5	SNP	1.000	T	T	161140274	G	T	161140274	4	4	37	1	0	0	0	0	0	1	0	0	12390	1291	45	3	1097	3	PPOX	1	161140274	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2878199	161140274	88110347	17	8863											
DUSP27	92235	genome.wustl.edu	37	chr1	167096823	167096823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagcaaagtgagggggAccagcaagcccatcttcagc	13	4	13	11	0	2	2	1	1	1	1	2	3	2	3	2	2	4	3	2	2	3	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:167096823A>G	ENST00000361200.2	+	6	2621	c.2455A>G	c.(2455-2457)Acc>Gcc	p.T819A	DUSP27_ENST00000443333.1_Missense_Mutation_p.T819A|DUSP27_ENST00000271385.5_Missense_Mutation_p.T819A|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	819					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGTGAGGGGGACCAGCAAGCC	0.547																																																	0													88	82	84					1																	167096823		2203	4300	6503	SO:0001583	missense	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2455A>G	1.37:g.167096823A>G	ENSP00000354483:p.Thr819Ala		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.T819A	ENST00000361200.2	37	c.2455	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	A	17.47	3.396795	0.62177	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.05580	3.42;3.42;3.42	5.36	4.24	0.50183	.	0.074674	0.51477	N	0.000100	T	0.13030	0.0316	M	0.71581	2.175	0.43662	D	0.996082	D	0.76494	0.999	D	0.78314	0.991	T	0.00603	-1.1649	10	0.87932	D	0	-23.1122	10.8573	0.46806	0.9261:0.0:0.0739:0.0	.	819	Q5VZP5	DUS27_HUMAN	A	819	ENSP00000354483:T819A;ENSP00000271385:T819A;ENSP00000404874:T819A	ENSP00000271385:T819A	T	+	1	0	DUSP27	165363447	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	5.952000	0.70282	0.865000	0.35603	0.450000	0.29827	ACC	DUSP27	-	NULL	ENSG00000198842		0.547	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	-	0	43	0	A	NM_001080426		167096823	1	tier1	-	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	G	G	167096823	A	G	167096823	3	3	37	1	0	0	0	0	1	0	0	0	4838	275	10	4	2473	4	DUSP27	1	167096823	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	5956549	167096823	82153798	18	8864											
REN	5972	genome.wustl.edu	37	chr1	204131165	204131165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtagttggtgaggatcacGgaggaggtggtgttgccaag	9	10	18	4	1	1	1	1	1	0	0	1	4	1	4	1	6	1	3	1	6	2	3	rs374481579		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:204131165G>A	ENST00000272190.8	-	2	253	c.225C>T	c.(223-225)tcC>tcT	p.S75S	REN_ENST00000367195.2_Silent_p.S75S	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	75					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGAGGATCACGGAGGAGGTGG	0.582																																																	0								G		0,4406		0,0,2203	212	164	180		225	-6.7	0.1	1		180	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	REN	NM_000537.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		75/407	204131165	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.225C>T	1.37:g.204131165G>A			Q6FI38|Q6T5C2	Silent	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.S75	ENST00000272190.8	37	c.225	CCDS30981.1	1																																																																																			REN	-	superfamily_Peptidase_aspartic_dom	ENSG00000143839		0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	-	0	69	0	G	NM_000537		204131165	-1	tier1	-	no_errors	ENST00000272190	ensembl	human	known	74_37	silent	25.93	40	14	SNP	0.344	A	A	204131165	G	A	204131165	2	1	37	1	0	0	0	0	0	0	0	1	13269	1103	39	1		1	REN	1	204131165	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	37034342	204131165	45119456	19	8865											
SLC41A1	254428	genome.wustl.edu	37	chr1	205779531	205779531	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaagggccagtcccgttCagttggtggacgtccttcgg	6	9	15	11	3	1	1	1	0	0	1	4	2	3	2	3	4	0	3	3	4	1	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:205779531C>T	ENST00000367137.3	-	2	1053	c.39G>A	c.(37-39)ctG>ctA	p.L13L		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	13					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAGTCCCGTTCAGTTGGTGGA	0.592											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	84	82					1																	205779531		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"Solute carriers"	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.39G>A	1.37:g.205779531C>T		2154	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Silent	SNP	pfam_SLC41_membr_dom	p.L13	ENST00000367137.3	37	c.39	CCDS30988.1	1																																																																																			SLC41A1	-	NULL	ENSG00000133065		0.592	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	-	0	43	0	C			205779531	-1	tier1	-	no_errors	ENST00000367137	ensembl	human	known	74_37	silent	25.00	21	7	SNP	1.000	T	T	205779531	C	T	205779531	2	4	37	1	0	0	0	0	0	0	0	1	14674	813	29	3		3	SLC41A1	1	205779531	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1648366	205779531	43471090	20	8866											
INTS7	25896	genome.wustl.edu	37	chr1	212149950	212149950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcctgtctggcaatacGgtatacagtccatccattgg	10	10	11	10	1	1	0	0	0	1	0	3	1	3	1	3	4	3	2	3	4	5	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:212149950G>T	ENST00000366994.3	-	12	1686	c.1582C>A	c.(1582-1584)Cgt>Agt	p.R528S	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Missense_Mutation_p.R528S|INTS7_ENST00000440600.2_Missense_Mutation_p.R479S|INTS7_ENST00000366992.3_Missense_Mutation_p.R528S	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	528					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGGCAATACGGTATACAGTC	0.408																																																	0													163	148	153					1																	212149950		2203	4300	6503	SO:0001583	missense	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1582C>A	1.37:g.212149950G>T	ENSP00000355961:p.Arg528Ser		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R479S	ENST00000366994.3	37	c.1435	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420154	0.62622	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.87	5.87	0.94306	Armadillo-like helical (1);Armadillo-type fold (1);	0.051603	0.85682	D	0.000000	T	0.29355	0.0731	L	0.42744	1.35	0.58432	D	0.999997	P;P;P;P	0.46064	0.872;0.872;0.872;0.872	B;B;B;B	0.41440	0.357;0.357;0.357;0.357	T	0.03296	-1.1051	10	0.62326	D	0.03	-18.2821	13.1566	0.59520	0.0:0.0:0.7367:0.2633	.	479;528;528;528	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	S	528;528;528;479	ENSP00000355961:R528S;ENSP00000355960:R528S;ENSP00000355959:R528S;ENSP00000388908:R479S	ENSP00000355959:R528S	R	-	1	0	INTS7	210216573	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.919000	0.56439	2.785000	0.95823	0.655000	0.94253	CGT	INTS7	-	NULL	ENSG00000143493		0.408	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	-	0	45	0	G	NM_015434		212149950	-1	tier1	-	no_errors	ENST00000440600	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	212149950	G	T	212149950	3	4	37	1	0	0	0	0	1	0	0	0	7810	1116	39	2	1342	2	INTS7	1	212149950	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	6370419	212149950	37100671	21	8867											
KCTD3	51133	genome.wustl.edu	37	chr1	215793669	215793669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtagaaataaaaagtttGagagaattggatagtggatt	17	11	13	0	0	0	3	0	1	0	2	0	7	0	6	0	3	0	2	0	3	7	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:215793669G>C	ENST00000259154.4	+	18	2451	c.2157G>C	c.(2155-2157)ttG>ttC	p.L719F	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	719					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TAAAAAGTTTGAGAGAATTGG	0.353																																																	0													67	75	72					1																	215793669		2201	4299	6500	SO:0001583	missense	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"potassium channel tetramerisation domain containing 3"			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2157G>C	1.37:g.215793669G>C	ENSP00000259154:p.Leu719Phe		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.L719F	ENST00000259154.4	37	c.2157	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	G	9.988	1.230063	0.22542	.	.	ENSG00000136636	ENST00000259154	T	0.38401	1.14	5.81	2.49	0.30216	.	1.976990	0.01828	N	0.034509	T	0.22399	0.0540	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.17667	0.009;0.009;0.023;0.013	B;B;B;B	0.20384	0.019;0.019;0.029;0.013	T	0.21280	-1.0250	10	0.15066	T	0.55	1.091	4.8632	0.13594	0.077:0.3195:0.4239:0.1797	.	469;471;717;719	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	F	719	ENSP00000259154:L719F	ENSP00000259154:L719F	L	+	3	2	KCTD3	213860292	0.000000	0.05858	0.015000	0.15790	0.986000	0.74619	0.222000	0.17699	1.423000	0.47198	0.655000	0.94253	TTG	KCTD3	-	NULL	ENSG00000136636		0.353	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	-	0	42	0	G	NM_016121		215793669	1	tier1	-	no_errors	ENST00000259154	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.000	C	C	215793669	G	C	215793669	3	2	37	1	0	0	0	0	1	0	0	0	8137	1281	45	5	2227	5	KCTD3	1	215793669	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3643719	215793669	33456952	22	8868											
PRSS38	339501	genome.wustl.edu	37	chr1	228033281	228033281	+	Frame_Shift_Del	DEL	G	G	-																															tgcccgacatgctgtgtgctGgggacatcctgaatgctaag																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:228033281delG	ENST00000366757.3	+	4	718	c.694delG	c.(694-696)gggfs	p.G232fs		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	232	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCTGTGTGCTGGGGACATCCT	0.612																																																	0													234	159	184					1																	228033281		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.694delG	1.37:g.228033281delG	ENSP00000355719:p.Gly232fs		Q7RTY6	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D233fs	ENST00000366757.3	37	c.694	CCDS1563.1	1																																																																																			PRSS38	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000185888		0.612	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1		0	48	0	G	NM_183062		228033281	1	tier1		no_errors	ENST00000366757	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.942	-	-	228033281	G	-	228033281	7	5	37	1	0	1	0	1	0	0	0	0	12669	1348	47	0	708	0	PRSS38	1	228033281	Frame_Shift_Del	DEL	G	TCGA-JY-A6FD-01A-11D-A33E-09	12239612	228033281	21217340	23	8869											
OBSCN	84033	genome.wustl.edu	37	chr1	228467709	228467709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggctgagctgcgcatcctCcggctcatgcctgctgatgc	5	10	12	14	2	1	2	1	2	0	0	3	2	3	2	3	2	5	5	3	2	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr1:228467709C>T	ENST00000422127.1	+	28	7628	c.7584C>T	c.(7582-7584)ctC>ctT	p.L2528L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.L1375L|OBSCN_ENST00000570156.2_Silent_p.L2957L|OBSCN_ENST00000284548.11_Silent_p.L2528L|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2528	Ig-like 24.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGCATCCTCCGGCTCATGC	0.622																																																	0													21	24	23					1																	228467709		2114	4218	6332	SO:0001819	synonymous_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7584C>T	1.37:g.228467709C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.L2528	ENST00000422127.1	37	c.7584	CCDS58065.1	1																																																																																			OBSCN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154358		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	30	0	C	NM_052843		228467709	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	silent	20.83	19	5	SNP	0.015	T	T	228467709	C	T	228467709	2	4	37	1	0	0	0	0	0	0	0	1	10851	842	30	3		3	OBSCN	1	228467709	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	434428	228467709	20782912	24	8870											
TPO	7173	genome.wustl.edu	37	chr2	1459852	1459852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttcctacccaggtccGggaggtgacaagacatgtca	9	9	11	12	1	2	2	1	1	1	1	5	3	4	3	3	3	1	0	3	3	2	2	rs144088710		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:1459852G>T	ENST00000345913.4	+	7	708	c.617G>T	c.(616-618)cGg>cTg	p.R206L	TPO_ENST00000346956.3_Missense_Mutation_p.R206L|TPO_ENST00000382198.1_Missense_Mutation_p.R206L|TPO_ENST00000382201.3_Missense_Mutation_p.R206L|TPO_ENST00000349624.3_Missense_Mutation_p.R206L|TPO_ENST00000329066.4_Missense_Mutation_p.R206L|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.R206L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	206					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCCAGGTCCGGGAGGTGACA	0.502																																																	0													88	65	73					2																	1459852		2203	4300	6503	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.617G>T	2.37:g.1459852G>T	ENSP00000318820:p.Arg206Leu		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R206L	ENST00000345913.4	37	c.617	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188130	0.57909	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74;-0.74	5.04	5.04	0.67666	.	0.125727	0.53938	D	0.000059	D	0.89339	0.6687	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.76575	0.98;0.986;0.98;0.988	D	0.91737	0.5401	10	0.87932	D	0	-42.5583	18.7337	0.91746	0.0:0.0:1.0:0.0	.	206;206;206;206	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	L	206;206;206;206;206;206;206;135	ENSP00000337263:R206L;ENSP00000318820:R206L;ENSP00000263886:R206L;ENSP00000332044:R206L;ENSP00000329869:R206L;ENSP00000371636:R206L;ENSP00000371633:R206L;ENSP00000405788:R135L	ENSP00000329869:R206L	R	+	2	0	TPO	1438859	1.000000	0.71417	0.996000	0.52242	0.299000	0.27559	8.134000	0.89606	2.485000	0.83878	0.563000	0.77884	CGG	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.502	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0	37	0	G	NM_000547		1459852	1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	T	T	1459852	G	T	1459852	3	4	37	1	0	0	0	0	1	0	0	0	16458	1116	39	2	639	2	TPO	2	1459852	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		1459852	241739521	25	8871											
SOX11	6664	genome.wustl.edu	37	chr2	5832933	5832933	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaggagggcgaattcaTggcttgcagcccggtggccc	7	6	16	12	3	1	0	1	0	0	0	1	3	1	2	2	6	2	2	2	6	1	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:5832933T>G	ENST00000322002.3	+	1	135	c.80T>G	c.(79-81)aTg>aGg	p.M27R	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	27					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGCGAATTCATGGCTTGCAGC	0.662																																																	0													33	34	34					2																	5832933		2203	4300	6503	SO:0001583	missense	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.80T>G	2.37:g.5832933T>G	ENSP00000322568:p.Met27Arg		Q4ZFV8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.M27R	ENST00000322002.3	37	c.80	CCDS1654.1	2	.	.	.	.	.	.	.	.	.	.	t	19.01	3.744380	0.69418	.	.	ENSG00000176887	ENST00000322002	D	0.97811	-4.55	3.14	3.14	0.36123	.	0.000000	0.64402	U	0.000002	D	0.96710	0.8926	M	0.67397	2.05	0.50813	D	0.999891	D	0.57257	0.979	P	0.49332	0.607	D	0.94753	0.7929	10	0.25106	T	0.35	.	11.3878	0.49796	0.0:0.0:0.0:1.0	.	27	P35716	SOX11_HUMAN	R	27	ENSP00000322568:M27R	ENSP00000322568:M27R	M	+	2	0	SOX11	5750384	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.551000	0.45820	1.190000	0.43042	0.382000	0.24955	ATG	SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.662	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1	-	0	74	0	T	NM_003108		5832933	1	tier1	-	no_errors	ENST00000322002	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	G	G	5832933	T	G	5832933	3	3	37	1	0	0	0	0	1	0	0	0	14987	1464	51	4	82	4	SOX11	2	5832933	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	4373081	5832933	237366440	26	8872											
APOB	338	genome.wustl.edu	37	chr2	21250902	21250902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacagttggaagttgaGattctttcagagcttctttc	9	15	9	8	0	3	3	1	2	2	2	4	5	3	4	1	1	1	3	1	1	1	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:21250902G>T	ENST00000233242.1	-	14	1992	c.1865C>A	c.(1864-1866)tCt>tAt	p.S622Y	APOB_ENST00000399256.4_Missense_Mutation_p.S622Y	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	622	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S622Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAAGTTGAGATTCTTTCAG	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											115	119	118					2																	21250902		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1865C>A	2.37:g.21250902G>T	ENSP00000233242:p.Ser622Tyr		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S622Y	ENST00000233242.1	37	c.1865	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195534	0.58126	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.05649	5.69;3.41	5.85	4.97	0.65823	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.338930	0.28072	N	0.016701	T	0.20700	0.0498	M	0.76838	2.35	0.28834	N	0.897008	D	0.67145	0.996	P	0.61328	0.887	T	0.05784	-1.0864	10	0.72032	D	0.01	.	10.1204	0.42616	0.0721:0.0:0.7615:0.1665	.	622	P04114	APOB_HUMAN	Y	622	ENSP00000233242:S622Y;ENSP00000382200:S622Y	ENSP00000233242:S622Y	S	-	2	0	APOB	21104407	0.880000	0.30214	0.976000	0.42696	0.898000	0.52572	1.127000	0.31357	1.636000	0.50526	-0.136000	0.14681	TCT	APOB	-	superfamily_Vitellinogen_superhlx,pfscan_Lipid_transpt_N	ENSG00000084674		0.388	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	33	0	G			21250902	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.887	T	T	21250902	G	T	21250902	3	4	37	1	0	0	0	0	1	0	0	0	785	942	33	3	11890	3	APOB	2	21250902	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	15417969	21250902	221948471	27	8873											
ATAD2B	54454	genome.wustl.edu	37	chr2	24090793	24090793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgctagctaagtcctctGctctgaagttcataggcaaa	11	11	8	11	1	3	1	1	1	2	0	4	1	4	1	2	1	3	5	2	1	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:24090793G>T	ENST00000238789.5	-	10	1443	c.1100C>A	c.(1099-1101)gCa>gAa	p.A367E		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	367						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAGTCCTCTGCTCTGAAGTT	0.343																																																	0													177	171	173					2																	24090793		1857	4101	5958	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1100C>A	2.37:g.24090793G>T	ENSP00000238789:p.Ala367Glu		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.A367E	ENST00000238789.5	37	c.1100	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672908	0.29693	.	.	ENSG00000119778	ENST00000238789	D	0.91407	-2.84	4.62	3.73	0.42828	.	.	.	.	.	T	0.76227	0.3958	N	0.04063	-0.285	0.50039	D	0.999841	B	0.28998	0.23	B	0.24006	0.05	T	0.73430	-0.3985	9	0.05351	T	0.99	.	15.4348	0.75137	0.0:0.1401:0.8599:0.0	.	367	Q9ULI0	ATD2B_HUMAN	E	367	ENSP00000238789:A367E	ENSP00000238789:A367E	A	-	2	0	ATAD2B	23944297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.140000	0.50585	1.231000	0.43661	0.655000	0.94253	GCA	ATAD2B	-	NULL	ENSG00000119778		0.343	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1		0	57	0	G	NM_017552		24090793	-1			no_errors	ENST00000238789	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	24090793	G	T	24090793	3	4	37	1	0	0	0	0	1	0	0	0	1073	1319	46	3	3352	3	ATAD2B	2	24090793	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2839891	24090793	219108580	28	8874											
GTF3C2	2976	genome.wustl.edu	37	chr2	27566340	27566340	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatttagcacctcttGtccaggagagtctaccacag	11	10	9	11	0	2	2	0	1	2	1	3	3	3	2	3	1	3	2	3	1	3	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:27566340G>A	ENST00000359541.2	-	2	511	c.82C>T	c.(82-84)Caa>Taa	p.Q28*	AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000588707.1_RNA|GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Q28*|AC109828.1_ENST00000590383.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	28					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCACCTCTTGTCCAGGAGAG	0.552																																																	0													127	127	127					2																	27566340		2203	4300	6503	SO:0001587	stop_gained	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.82C>T	2.37:g.27566340G>A	ENSP00000352536:p.Gln28*		D6W557|Q16632|Q9BWI7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q28*	ENST00000359541.2	37	c.82	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916877	0.73098	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	.	.	.	4.8	2.81	0.32909	.	0.711358	0.12586	N	0.455981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-0.3234	6.9692	0.24639	0.0:0.1808:0.6049:0.2143	.	.	.	.	X	28	.	ENSP00000264720:Q28X	Q	-	1	0	GTF3C2	27419844	1.000000	0.71417	0.999000	0.59377	0.842000	0.47809	1.765000	0.38481	1.234000	0.43709	0.563000	0.77884	CAA	GTF3C2	-	NULL	ENSG00000115207		0.552	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0	48	0	G			27566340	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	nonsense	15.62	26	5	SNP	0.998	A	A	27566340	G	A	27566340	4	1	37	1	0	0	0	0	0	1	0	0	6900	1386	48	3	2725	3	GTF3C2	2	27566340	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3475547	27566340	215633033	29	8875											
SUPT7L	9913	genome.wustl.edu	37	chr2	27883883	27883883	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctctgggtcactgtgccgGatctggaatggtgcattggg	5	12	15	9	1	3	0	1	0	2	0	4	2	3	2	1	5	2	1	1	5	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:27883883G>T	ENST00000337768.5	-	3	956	c.387C>A	c.(385-387)atC>atA	p.I129I	SLC4A1AP_ENST00000326019.6_5'Flank|SUPT7L_ENST00000405491.1_Silent_p.I127I|SUPT7L_ENST00000406540.1_Silent_p.I127I|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000464789.2_Silent_p.I127I	NM_001282729.1|NM_014860.1	NP_001269658.1|NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	129					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|maintenance of protein location in nucleus (GO:0051457)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CACTGTGCCGGATCTGGAATG	0.488																																																	0													93	94	94					2																	27883883		2009	4175	6184	SO:0001819	synonymous_variant	0			AF197954	CCDS42667.1, CCDS62885.1, CCDS62886.1	2p23.3	2008-02-05			ENSG00000119760	ENSG00000119760			30632	protein-coding gene	gene with protein product		612762				9872452, 11564863	Standard	NM_001282732		Approved	STAF65, gamma, KIAA0764, SPT7L	uc002rli.1	O94864	OTTHUMG00000151947	ENST00000337768.5:c.387C>A	2.37:g.27883883G>T			B4E3W3|Q6IB21|Q9H2T6	Silent	SNP	pfam_BTP,smart_BTP	p.I129	ENST00000337768.5	37	c.387	CCDS42667.1	2																																																																																			SUPT7L	-	NULL	ENSG00000119760		0.488	SUPT7L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT7L	HGNC	protein_coding	OTTHUMT00000324568.1	-	0	46	0	G	NM_014860		27883883	-1	tier1	-	no_errors	ENST00000337768	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.879	T	T	27883883	G	T	27883883	2	4	37	1	0	0	0	0	0	0	0	1	15448	1164	41	3		3	SUPT7L	2	27883883	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	317543	27883883	215315490	30	8876											
DHX57	90957	genome.wustl.edu	37	chr2	39088678	39088678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtacatttttggtactttCttttggcttggatttgcgga	5	21	10	5	1	1	0	0	0	1	0	1	2	1	2	0	4	3	3	0	4	2	10			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:39088678C>T	ENST00000295373.6	-	5	1000	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	292							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTGGTACTTTCTTTTGGCTTG	0.338																																					Melanoma(191;1090 2095 4375 23729 47341)												0													85	86	86					2																	39088678		2203	4300	6503	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.874G>A	2.37:g.39088678C>T	ENSP00000295373:p.Glu292Lys		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E292K	ENST00000295373.6	37	c.874	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	C	4.299	0.054741	0.08291	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.02709	4.19	5.78	4.89	0.63831	RWD domain (1);	0.366682	0.23762	N	0.044812	T	0.02455	0.0075	N	0.22421	0.69	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.12156	0.007;0.002	T	0.47535	-0.9110	10	0.11485	T	0.65	.	13.3763	0.60741	0.0:0.8726:0.0:0.1274	.	292;292	Q6P158-2;Q6P158	.;DHX57_HUMAN	K	292;190	ENSP00000295373:E292K	ENSP00000295373:E292K	E	-	1	0	DHX57	38942182	0.000000	0.05858	0.991000	0.47740	0.387000	0.30353	0.609000	0.24238	2.724000	0.93272	0.563000	0.77884	GAA	DHX57	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000163214		0.338	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	-	0	32	0	C	NM_145646		39088678	-1	tier1	-	no_errors	ENST00000295373	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.006	T	T	39088678	C	T	39088678	3	4	37	1	0	0	0	0	1	0	0	0	4527	922	32	3	3366	3	DHX57	2	39088678	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	11204795	39088678	204110695	31	8877											
FSHR	2492	genome.wustl.edu	37	chr2	49381432	49381432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcattcctcgggaggtcaGaaggaatctctgtcaccttg	8	11	12	10	1	3	1	2	0	1	1	6	3	4	3	2	4	0	1	2	4	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:49381432G>A	ENST00000406846.2	-	1	244	c.125C>T	c.(124-126)tCt>tTt	p.S42F	FSHR_ENST00000304421.4_Missense_Mutation_p.S42F|FSHR_ENST00000346173.3_Missense_Mutation_p.S42F	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	42	LRRNT.				female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CGGGAGGTCAGAAGGAATCTC	0.478									Gonadal Dysgenesis, 46 XX																																								0													71	71	71					2																	49381432		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.125C>T	2.37:g.49381432G>A	ENSP00000384708:p.Ser42Phe		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.S42F	ENST00000406846.2	37	c.125	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980977	0.53827	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (2);	0.797796	0.11225	N	0.586312	D	0.96278	0.8786	M	0.65975	2.015	0.80722	D	1	P;P;P	0.50528	0.658;0.936;0.593	P;B;P	0.47864	0.559;0.382;0.473	D	0.94311	0.7545	9	.	.	.	.	14.6913	0.69087	0.0:0.0:1.0:0.0	.	42;42;42	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	F	42	ENSP00000384708:S42F;ENSP00000333908:S42F;ENSP00000306780:S42F;ENSP00000415504:S42F	.	S	-	2	0	FSHR	49234936	0.001000	0.12720	0.682000	0.30024	0.648000	0.38561	0.806000	0.27126	2.840000	0.97914	0.655000	0.94253	TCT	FSHR	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000170820		0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0	54	0	G			49381432	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	missense	15.38	21	4	SNP	0.379	A	A	49381432	G	A	49381432	3	1	37	1	0	0	0	0	1	0	0	0	6097	942	33	3	2002	3	FSHR	2	49381432	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	10292754	49381432	193817941	32	8878											
USP34	9736	genome.wustl.edu	37	chr2	61433937	61433937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacttcaaaaccgaaaGaaatattgacagaagttcta	18	10	7	6	1	2	4	1	1	1	3	2	5	2	4	1	0	1	2	1	0	8	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:61433937G>T	ENST00000398571.2	-	71	9080	c.9004C>A	c.(9004-9006)Ctt>Att	p.L3002I	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3002					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAAACCGAAAGAAATATTGAC	0.378																																																	0													69	65	66					2																	61433937		1848	4102	5950	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9004C>A	2.37:g.61433937G>T	ENSP00000381577:p.Leu3002Ile		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.L3002I	ENST00000398571.2	37	c.9004	CCDS42686.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.23|17.23	3.337068|3.337068	0.60963|0.60963	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398571|ENST00000411912	T|.	0.68479|.	-0.33|.	5.82|5.82	4.95|4.95	0.65309|0.65309	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52964|0.52964	0.1767|0.1767	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	B|.	0.29378|.	0.243|.	B|.	0.28991|.	0.097|.	T|T	0.49224|0.49224	-0.8962|-0.8962	10|5	0.18710|.	T|.	0.47|.	.|.	14.895|14.895	0.70636|0.70636	0.0686:0.0:0.9314:0.0|0.0686:0.0:0.9314:0.0	.|.	3002|.	Q70CQ2|.	UBP34_HUMAN|.	I|Y	2850;3002|761	ENSP00000381577:L3002I|.	ENSP00000263989:L2850I|.	L|S	-|-	1|2	0|0	USP34|USP34	61287441|61287441	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.932000|0.932000	0.56968|0.56968	9.869000|9.869000	0.99810|0.99810	1.473000|1.473000	0.48159|0.48159	0.563000|0.563000	0.77884|0.77884	CTT|TCT	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.378	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4		0	61	0	G			61433937	-1			no_errors	ENST00000398571	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	61433937	G	T	61433937	3	4	37	1	0	0	0	0	1	0	0	0	17114	942	33	3	1676	3	USP34	2	61433937	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	12052505	61433937	181765436	33	8879											
XPO1	7514	genome.wustl.edu	37	chr2	61719279	61719279	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaatgcctgcggcattttTgggctattttaatgaaagta	11	14	10	6	2	0	1	0	1	0	0	0	2	0	1	1	2	2	3	1	2	5	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:61719279T>A	ENST00000401558.2	-	16	2505	c.1778A>T	c.(1777-1779)cAa>cTa	p.Q593L	XPO1_ENST00000406957.1_Missense_Mutation_p.Q593L|XPO1_ENST00000404992.2_Missense_Mutation_p.Q593L	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	593	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GCGGCATTTTTGGGCTATTTT	0.363			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0													71	73	73					2																	61719279		2203	4300	6503	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1778A>T	2.37:g.61719279T>A	ENSP00000384863:p.Gln593Leu		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q593L	ENST00000401558.2	37	c.1778	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541664	0.65085	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.66815	-0.23;-0.23;-0.23	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	L	0.33485	1.01	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.08055	0.002;0.003	T	0.50980	-0.8763	10	0.23891	T	0.37	-12.6315	15.8844	0.79232	0.0:0.0:0.0:1.0	.	240;593	B3KWD0;O14980	.;XPO1_HUMAN	L	593	ENSP00000384863:Q593L;ENSP00000385942:Q593L;ENSP00000385559:Q593L	ENSP00000384863:Q593L	Q	-	2	0	XPO1	61572783	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.987000	0.88182	2.218000	0.71995	0.533000	0.62120	CAA	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	-	0	37	0	T	NM_003400		61719279	-1	tier1	-	no_errors	ENST00000401558	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	A	A	61719279	T	A	61719279	3	1	37	1	0	0	0	0	1	0	0	0	17494	1812	63	5	1477	5	XPO1	2	61719279	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	285342	61719279	181480094	34	8880											
SERTAD2	9792	genome.wustl.edu	37	chr2	64863890	64863890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggaaatgttgaagataGtctggcgctgtaaggtgtaa	13	11	14	3	1	1	2	0	1	1	1	1	3	1	3	0	3	0	4	0	3	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:64863890G>T	ENST00000313349.3	-	2	413	c.116C>A	c.(115-117)aCt>aAt	p.T39N	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	39	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.				negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTGAAGATAGTCTGGCGCTG	0.473																																																	0													149	144	145					2																	64863890		2203	4300	6503	SO:0001583	missense	0			D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"transcriptional regulator interacting with the PHS-bromodomain 2"					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.116C>A	2.37:g.64863890G>T	ENSP00000326933:p.Thr39Asn		Q53TS2	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.T39N	ENST00000313349.3	37	c.116	CCDS33210.1	2	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802987	0.70682	.	.	ENSG00000179833	ENST00000313349	.	.	.	5.83	5.83	0.93111	.	0.046985	0.85682	D	0.000000	T	0.75170	0.3813	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74097	-0.3775	9	0.52906	T	0.07	-12.4574	20.1338	0.98010	0.0:0.0:1.0:0.0	.	39	Q14140	SRTD2_HUMAN	N	39	.	ENSP00000326933:T39N	T	-	2	0	SERTAD2	64717394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.567000	0.82357	2.770000	0.95276	0.655000	0.94253	ACT	SERTAD2	-	pfscan_SERTA	ENSG00000179833		0.473	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD2	HGNC	protein_coding	OTTHUMT00000327322.2	-	0	46	0	G	NM_014755		64863890	-1	tier1	-	no_errors	ENST00000313349	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	64863890	G	T	64863890	3	4	37	1	0	0	0	0	1	0	0	0	14166	1029	36	3	832	3	SERTAD2	2	64863890	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3144611	64863890	178335483	35	8881											
VAX2	25806	genome.wustl.edu	37	chr2	71160086	71160086	+	Frame_Shift_Del	DEL	G	G	-																															cgctgacccctagcctgccaGgcctacctgccagccacagg																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:71160086delG	ENST00000234392.2	+	3	657	c.625delG	c.(625-627)ggcfs	p.G209fs	ATP6V1B1_ENST00000412314.1_5'Flank|snoU13_ENST00000459218.1_RNA|ATP6V1B1_ENST00000234396.4_5'Flank	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	209					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						TAGCCTGCCAGGCCTACCTGC	0.697																																																	0													26	30	29					2																	71160086		2202	4300	6502	SO:0001589	frameshift_variant	0			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.625delG	2.37:g.71160086delG	ENSP00000234392:p.Gly209fs		Q53Y33	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.G209fs	ENST00000234392.2	37	c.625	CCDS1911.1	2																																																																																			VAX2	-	NULL	ENSG00000116035		0.697	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAX2	HGNC	protein_coding	OTTHUMT00000251923.1		0	88	0	G			71160086	1	tier1		no_errors	ENST00000234392	ensembl	human	known	74_37	frame_shift_del	30.23	30	13	DEL	0.029	-	-	71160086	G	-	71160086	7	5	37	1	0	1	0	1	0	0	0	0	17184	1000	35	0	635	0	VAX2	2	71160086	Frame_Shift_Del	DEL	G	TCGA-JY-A6FD-01A-11D-A33E-09	6296196	71160086	172039287	36	8882											
ZNF638	27332	genome.wustl.edu	37	chr2	71626765	71626765	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactctaacaaacctgtGactataccaggtaagcttga	16	9	7	9	0	1	3	0	2	1	1	1	3	1	3	2	1	4	2	2	1	6	5	rs145725176		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:71626765G>T	ENST00000409544.1	+	13	3207	c.2577G>T	c.(2575-2577)gtG>gtT	p.V859V	ZNF638_ENST00000355812.3_Silent_p.V859V|ZNF638_ENST00000264447.4_Silent_p.V859V	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	859					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACAAACCTGTGACTATACCAG	0.363																																																	0													122	129	127					2																	71626765		2203	4300	6503	SO:0001819	synonymous_variant	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.2577G>T	2.37:g.71626765G>T			B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.V859	ENST00000409544.1	37	c.2577	CCDS1917.1	2																																																																																			ZNF638	-	NULL	ENSG00000075292		0.363	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	-	0	86	0	G	NM_014497		71626765	1	tier1	-	no_errors	ENST00000264447	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.101	T	T	71626765	G	T	71626765	2	4	37	1	0	0	0	0	0	0	0	1	18103	1277	45	3		3	ZNF638	2	71626765	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	466679	71626765	171572608	37	8883											
REG3G	130120	genome.wustl.edu	37	chr2	79254209	79254209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggtgtctgtgctcagtgGggctgagggatccttcgtgt	4	13	16	8	1	2	1	1	1	1	0	4	2	3	2	1	4	1	2	1	4	0	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:79254209G>T	ENST00000272324.5	+	4	429	c.245G>T	c.(244-246)gGg>gTg	p.G82V	REG3G_ENST00000409471.1_Intron|REG3G_ENST00000393897.2_Missense_Mutation_p.G82V	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	82	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGCTCAGTGGGGCTGAGGGA	0.547																																																	0													161	150	154					2																	79254209		2203	4300	6503	SO:0001583	missense	0			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.245G>T	2.37:g.79254209G>T	ENSP00000272324:p.Gly82Val		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G82V	ENST00000272324.5	37	c.245	CCDS1962.1	2	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223189	0.09863	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.18810	2.19;2.19	4.83	-1.81	0.07882	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.071090	0.07250	N	0.865798	T	0.16599	0.0399	L	0.39397	1.21	0.09310	N	0.999997	B	0.23591	0.088	B	0.35859	0.212	T	0.45323	-0.9269	10	0.13853	T	0.58	.	3.4509	0.07498	0.1652:0.4587:0.2472:0.1289	.	82	Q6UW15	REG3G_HUMAN	V	82	ENSP00000377475:G82V;ENSP00000272324:G82V	ENSP00000272324:G82V	G	+	2	0	REG3G	79107717	0.000000	0.05858	0.001000	0.08648	0.538000	0.34931	-1.271000	0.02828	-0.491000	0.06697	-0.176000	0.13171	GGG	REG3G	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000143954		0.547	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3G	HGNC	protein_coding	OTTHUMT00000328247.1	-	0	72	0	G	NM_198448		79254209	1	tier1	-	no_errors	ENST00000272324	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.002	T	T	79254209	G	T	79254209	3	4	37	1	0	0	0	0	1	0	0	0	13258	1232	43	3	255	3	REG3G	2	79254209	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	7627444	79254209	163945164	38	8884											
SLC9A4	389015	genome.wustl.edu	37	chr2	103141605	103141605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaggtcacagcctgccctgGggaaagccggtacattgggg	10	6	15	10	1	1	0	1	0	0	0	1	1	1	1	3	6	4	1	3	6	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:103141605G>T	ENST00000295269.4	+	10	2398	c.1941G>T	c.(1939-1941)tgG>tgT	p.W647C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	647					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.W647C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCTGCCCTGGGGAAAGCCGG	0.532																																																	1	Substitution - Missense(1)	lung(1)											115	118	117					2																	103141605		2203	4300	6503	SO:0001583	missense	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"Solute carriers"	11077	protein-coding gene	gene with protein product		600531	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 4", "solute carrier family 9 (sodium/hydrogen exchanger), member 4"			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1941G>T	2.37:g.103141605G>T	ENSP00000295269:p.Trp647Cys		Q69YK0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.W647C	ENST00000295269.4	37	c.1941	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796142	0.31777	.	.	ENSG00000180251	ENST00000295269	T	0.45668	0.89	5.75	5.75	0.90469	.	1.037700	0.07434	N	0.896245	T	0.61553	0.2356	M	0.70595	2.14	0.58432	D	0.999995	D	0.61697	0.99	P	0.59889	0.865	T	0.45804	-0.9236	10	0.38643	T	0.18	.	12.0985	0.53769	0.0795:0.0:0.9205:0.0	.	647	Q6AI14	SL9A4_HUMAN	C	647	ENSP00000295269:W647C	ENSP00000295269:W647C	W	+	3	0	SLC9A4	102508037	1.000000	0.71417	0.942000	0.38095	0.066000	0.16364	3.421000	0.52742	2.718000	0.92993	0.579000	0.79373	TGG	SLC9A4	-	NULL	ENSG00000180251		0.532	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	-	0	41	0	G	NM_001011552.3		103141605	1	tier1	-	no_errors	ENST00000295269	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.998	T	T	103141605	G	T	103141605	3	4	37	1	0	0	0	0	1	0	0	0	14761	1241	43	3	1979	3	SLC9A4	2	103141605	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	23887396	103141605	140057768	39	8885											
ANAPC1	64682	genome.wustl.edu	37	chr2	112529998	112529998	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccagcatgctcagctgtGattcctccaagggctgcccg	7	8	12	14	1	1	1	1	1	0	0	3	1	3	1	4	2	4	4	4	2	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:112529998G>C	ENST00000341068.3	-	47	6411	c.5639C>G	c.(5638-5640)tCa>tGa	p.S1880*	MIR4771-1_ENST00000577758.1_RNA	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1880					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GCTCAGCTGTGATTCCTCCAA	0.527																																																	0													31	30	30					2																	112529998		2202	4279	6481	SO:0001587	stop_gained	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5639C>G	2.37:g.112529998G>C	ENSP00000339109:p.Ser1880*		Q2M3H8|Q9BSE6|Q9H8D0	Nonsense_Mutation	SNP	NULL	p.S1880*	ENST00000341068.3	37	c.5639	CCDS2093.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	17.133714|17.133714	0.99880|0.99880	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|.	.|.	.|.	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	.|0.320610	.|0.20462	.|N	.|0.091863	T|.	0.70307|.	0.3209|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73827|.	-0.3860|.	3|.	.|0.34782	.|T	.|0.22	-5.6659|-5.6659	16.6794|16.6794	0.85288|0.85288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	M|X	1414|1880	.|.	.|ENSP00000339109:S1880X	I|S	-|-	3|2	3|0	ANAPC1|ANAPC1	112246469|112246469	0.988000|0.988000	0.35896|0.35896	0.257000|0.257000	0.24404|0.24404	0.817000|0.817000	0.46193|0.46193	8.025000|8.025000	0.88777|0.88777	1.907000|1.907000	0.55213|0.55213	0.561000|0.561000	0.74099|0.74099	ATC|TCA	ANAPC1	-	NULL	ENSG00000153107		0.527	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	-	0	17	0	G	NM_022662		112529998	-1	tier1	-	no_errors	ENST00000341068	ensembl	human	known	74_37	nonsense	33.33	10	5	SNP	0.985	C	C	112529998	G	C	112529998	4	2	37	1	0	0	0	0	0	1	0	0	598	1294	45	5	203	5	ANAPC1	2	112529998	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	9388393	112529998	130669375	40	8886											
IWS1	55677	genome.wustl.edu	37	chr2	128262391	128262391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcctcctcactatcaGaactgtgaaacttttttctg	8	17	5	11	0	4	2	2	1	2	1	6	2	6	2	2	0	2	1	2	0	3	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:128262391G>T	ENST00000295321.4	-	3	1347	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y	IWS1_ENST00000486662.1_5'Flank|IWS1_ENST00000455721.2_Missense_Mutation_p.S370Y|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	363	Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTCACTATCAGAACTGTGAAA	0.428																																																	0													290	278	282					2																	128262391		2203	4300	6503	SO:0001583	missense	0			AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1088C>A	2.37:g.128262391G>T	ENSP00000295321:p.Ser363Tyr		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N	p.S363Y	ENST00000295321.4	37	c.1088	CCDS2146.1	2	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273477	0.59649	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721	T;T	0.41758	1.23;0.99	5.93	5.93	0.95920	.	0.310366	0.32901	N	0.005503	T	0.62684	0.2448	L	0.59436	1.845	0.52099	D	0.999943	D	0.71674	0.998	D	0.65773	0.938	T	0.61173	-0.7116	10	0.62326	D	0.03	-15.6871	20.3363	0.98740	0.0:0.0:1.0:0.0	.	363	Q96ST2	IWS1_HUMAN	Y	363;316;370	ENSP00000295321:S363Y;ENSP00000399245:S370Y	ENSP00000295321:S363Y	S	-	2	0	IWS1	127978861	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	4.564000	0.60830	2.814000	0.96858	0.563000	0.77884	TCT	IWS1	-	NULL	ENSG00000163166		0.428	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IWS1	HGNC	protein_coding	OTTHUMT00000254384.2		0	48	0	G	NM_017969		128262391	-1			no_errors	ENST00000295321	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	128262391	G	T	128262391	3	4	37	1	0	0	0	0	1	0	0	0	7958	942	33	3	1419	3	IWS1	2	128262391	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	15732393	128262391	114936982	41	8887											
NXPH2	11249	genome.wustl.edu	37	chr2	139428697	139428697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagggcggtctttttcGcccgatctgttttttcatac	5	16	9	11	3	3	0	1	0	2	0	4	1	3	0	1	2	2	2	1	2	1	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:139428697G>A	ENST00000272641.3	-	2	696	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	197	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GGTCTTTTTCGCCCGATCTGT	0.488																																																	0													69	67	68					2																	139428697		1878	4103	5981	SO:0001583	missense	0			AF043467	CCDS46421.1	2q22.1	2008-05-15			ENSG00000144227	ENSG00000144227			8076	protein-coding gene	gene with protein product		604635				9570794	Standard	NM_007226		Approved	NPH2	uc002tvi.3	O95156	OTTHUMG00000153636	ENST00000272641.3:c.590C>T	2.37:g.139428697G>A	ENSP00000272641:p.Ala197Val		B7WP24|Q494R1|Q75QC3	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.A197V	ENST00000272641.3	37	c.590	CCDS46421.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035977	0.75617	.	.	ENSG00000144227	ENST00000272641	.	.	.	5.51	5.51	0.81932	.	0.153169	0.64402	D	0.000016	T	0.71685	0.3369	L	0.54323	1.7	0.41580	D	0.988739	P	0.52170	0.951	P	0.55345	0.774	T	0.68907	-0.5285	8	.	.	.	-17.4868	19.7866	0.96442	0.0:0.0:1.0:0.0	.	197	O95156	NXPH2_HUMAN	V	197	.	.	A	-	2	0	NXPH2	139145167	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.064000	0.64338	2.756000	0.94617	0.655000	0.94253	GCG	NXPH2	-	pfam_NXPH/NXPE,pirsf_Neurexophilin	ENSG00000144227		0.488	NXPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH2	HGNC	protein_coding	OTTHUMT00000331901.1		0	24	0	G			139428697	-1			no_errors	ENST00000272641	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.996	A	A	139428697	G	A	139428697	3	1	37	1	0	0	0	0	1	0	0	0	10830	1087	38	1	208	1	NXPH2	2	139428697	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	11166306	139428697	103770676	42	8888											
STAM2	10254	genome.wustl.edu	37	chr2	153004816	153004817	+	Splice_Site	INS	-	-	A																															tttaggcaatctttcgctctINSaaaaaaaaaaagagagagag																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:153004816_153004817insA	ENST00000263904.4	-	3	475		c.e3-2		STAM2_ENST00000465460.1_Splice_Site	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2						endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTTTCGCTCTAAAAAAAAAAA	0.297																																																	0																																										SO:0001630	splice_region_variant	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.126-2->T	2.37:g.153004827_153004827dupA			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Splice_Site	INS	-	e3-2	ENST00000263904.4	37	c.126-3_126-2	CCDS2196.1	2																																																																																			STAM2	-	-	ENSG00000115145		0.297	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2		0	28	0	-	NM_005843	Intron	153004817	-1	tier1		no_errors	ENST00000263904	ensembl	human	known	74_37	splice_site_ins	7.14	26	2	INS	1.000:0.002	A	A	153004817	-	A	153004816	8	5	37	1	0	1	1	0	0	0	1	0	15296	1536	53	0	1501	0	STAM2	2	153004816	Splice_Site	INS	-	TCGA-JY-A6FD-01A-11D-A33E-09	13576119	153004816	90194557	43	8889											
SCN9A	6335	genome.wustl.edu	37	chr2	167133514	167133514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaggtttccaatgaccatGaccatcatgtaaacaataag	16	9	6	10	0	1	2	1	2	0	0	2	2	2	2	4	1	1	2	4	1	5	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:167133514G>A	ENST00000409435.1	-	15	2852	c.2853C>T	c.(2851-2853)gtC>gtT	p.V951V	SCN9A_ENST00000375387.4_Silent_p.V952V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.V952V|SCN9A_ENST00000409672.1_Silent_p.V940V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	951					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAATGACCATGACCATCATGT	0.398																																																	0													189	182	184					2																	167133514		2203	4300	6503	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2853C>T	2.37:g.167133514G>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.V952	ENST00000409435.1	37	c.2856	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.398	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	89	0	G	NM_002977		167133514	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	silent	18.31	58	13	SNP	1.000	A	A	167133514	G	A	167133514	2	1	37	1	0	0	0	0	0	0	0	1	13970	1277	45	3		3	SCN9A	2	167133514	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	14128698	167133514	76065859	44	8890											
DYNC1I2	1781	genome.wustl.edu	37	chr2	172584463	172584463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaagaactccactgtcaGcagctgcacacacagtaagt	14	7	8	12	0	1	1	1	0	0	1	2	1	2	1	1	0	5	5	1	0	3	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:172584463G>A	ENST00000397119.3	+	12	1296	c.1129G>A	c.(1129-1131)Gca>Aca	p.A377T	DYNC1I2_ENST00000409773.1_Missense_Mutation_p.A377T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.A369T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.A351T|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.A369T|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.A371T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.A351T|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.A371T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.A351T|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.A377T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.A377T	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	377					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TCCACTGTCAGCAGCTGCACA	0.413																																																	0													60	57	58					2																	172584463		1933	4153	6086	SO:0001583	missense	0			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1129G>A	2.37:g.172584463G>A	ENSP00000380308:p.Ala377Thr		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.A377T	ENST00000397119.3	37	c.1129	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.188106	0.94923	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.75821	-0.82;-0.97;-0.83;-0.75;-0.59;-0.59;-0.82;-0.83;-0.75;-0.61;-0.59	6.01	6.01	0.97437	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82176	0.4980	L	0.39898	1.24	0.80722	D	1	B;D;P;P;P;D	0.89917	0.048;1.0;0.542;0.542;0.678;1.0	B;D;B;B;B;D	0.91635	0.023;0.999;0.327;0.327;0.421;0.999	T	0.77219	-0.2668	10	0.27785	T	0.31	-19.2259	20.5211	0.99222	0.0:0.0:1.0:0.0	.	100;369;371;351;351;377	B4DX93;B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;.;DC1I2_HUMAN	T	351;377;371;377;369;351;351;371;377;377;369	ENSP00000339430:A351T;ENSP00000433791:A377T;ENSP00000263811:A371T;ENSP00000380308:A377T;ENSP00000386522:A369T;ENSP00000423339:A351T;ENSP00000386397:A351T;ENSP00000386591:A371T;ENSP00000386415:A377T;ENSP00000386886:A377T;ENSP00000350692:A369T	ENSP00000263811:A371T	A	+	1	0	DYNC1I2	172292709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.774000	0.98992	2.861000	0.98227	0.650000	0.86243	GCA	DYNC1I2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000077380		0.413	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	-	0	49	0	G	NM_001378		172584463	1	tier1	-	no_errors	ENST00000397119	ensembl	human	known	74_37	missense	24.59	46	15	SNP	1.000	A	A	172584463	G	A	172584463	3	1	37	1	0	0	0	0	1	0	0	0	4857	971	34	3	1171	3	DYNC1I2	2	172584463	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5450949	172584463	70614910	45	8891											
TTN	7273	genome.wustl.edu	37	chr2	179443596	179443596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctacaccatatttattttCggcactgaccctgaaggtat	10	13	6	12	1	0	2	0	2	0	0	1	2	0	2	3	2	1	2	3	2	5	7	rs374492812		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:179443596C>T	ENST00000591111.1	-	270	63462	c.63238G>A	c.(63238-63240)Gaa>Aaa	p.E21080K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13781K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E20153K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E22721K|TTN_ENST00000460472.2_Missense_Mutation_p.E13656K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13848K|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21080	Fibronectin type-III 52. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTATTTTCGGCACTGACC	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		21021	0		0	False		,,,				2504	0																0								C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,3823		0,1,1911	102	99	100		40966,60457,41341,41542	5.9	1	2		100	0,8222		0,0,4111	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	56,56,56,56	0,1,6022	TT,TC,CC		0.0,0.0262,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	13656/26927,20153/33424,13781/27052,13848/27119	179443596	1,12045	1912	4111	6023	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63238G>A	2.37:g.179443596C>T	ENSP00000465570:p.Glu21080Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E20153K	ENST00000591111.1	37	c.60457		2	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397672	0.62177	2.62E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70202	0.3197	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.70494	-0.4856	9	0.87932	D	0	.	20.2227	0.98327	0.0:1.0:0.0:0.0	.	13656;13781;13848;21080	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	20153;13656;13848;13781;13654	ENSP00000343764:E20153K;ENSP00000434586:E13656K;ENSP00000340554:E13848K;ENSP00000352154:E13781K	ENSP00000340554:E13848K	E	-	1	0	TTN	179151842	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.770000	0.85390	2.778000	0.95560	0.650000	0.86243	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	33	0	C	NM_133378		179443596	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	T	T	179443596	C	T	179443596	3	4	37	1	0	0	0	0	1	0	0	0	16784	893	31	1	39990	1	TTN	2	179443596	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	6859133	179443596	63755777	46	8892											
TTN	7273	genome.wustl.edu	37	chr2	179647024	179647024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggcatccaaacaccaCgctcccaccttccaccagtt	11	8	4	18	1	0	0	0	0	0	0	3	0	3	0	6	1	2	3	6	1	2	3	rs368282893		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:179647024C>T	ENST00000591111.1	-	20	3519	c.3295G>A	c.(3295-3297)Gtg>Atg	p.V1099M	TTN_ENST00000359218.5_Missense_Mutation_p.V1053M|TTN_ENST00000360870.5_Missense_Mutation_p.V1099M|TTN_ENST00000342992.6_Missense_Mutation_p.V1099M|TTN_ENST00000589042.1_Missense_Mutation_p.V1099M|TTN_ENST00000460472.2_Missense_Mutation_p.V1053M|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V1053M			Q8WZ42	TITIN_HUMAN	titin	33318	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAACACCACGCTCCCACCT	0.502																																																	0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	78	76	77		3157,3295,3295,3157,3157	-2.6	0	2		77	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	21,21,21,21,21	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1053/26927,1099/33424,1099/5605,1053/27052,1053/27119	179647024	2,13004	2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3295G>A	2.37:g.179647024C>T	ENSP00000465570:p.Val1099Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V1099M	ENST00000591111.1	37	c.3295		2	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669367	0.29693	2.27E-4	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.6	-2.62	0.06152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60064	0.2240	M	0.76170	2.325	0.09310	N	0.999996	P;P;P;P;D	0.60575	0.908;0.908;0.908;0.908;0.988	P;P;P;P;P	0.56278	0.487;0.487;0.647;0.647;0.795	T	0.60850	-0.7181	9	0.87932	D	0	.	13.614	0.62097	0.0:0.4899:0.0:0.5101	.	1053;1053;1053;1099;1099	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	1099;1053;1053;1053;1053;1099	ENSP00000343764:V1099M;ENSP00000434586:V1053M;ENSP00000340554:V1053M;ENSP00000352154:V1053M;ENSP00000354117:V1099M	ENSP00000340554:V1053M	V	-	1	0	TTN	179355269	0.013000	0.17824	0.021000	0.16686	0.992000	0.81027	0.263000	0.18478	-0.797000	0.04450	0.650000	0.86243	GTG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	34	0	C	NM_133378		179647024	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.139	T	T	179647024	C	T	179647024	3	4	37	1	0	0	0	0	1	0	0	0	16784	536	19	1	108065	1	TTN	2	179647024	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	203428	179647024	63552349	47	8893											
ZC3H15	55854	genome.wustl.edu	37	chr2	187370557	187370557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgctacacccagggaacaGgtggtgatgaggtaagagga	12	5	15	9	1	0	3	0	2	0	1	0	5	0	5	2	5	2	2	2	5	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:187370557G>T	ENST00000337859.6	+	8	1182	c.955G>T	c.(955-957)Ggt>Tgt	p.G319C	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114C	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CCAGGGAACAGGTGGTGATGA	0.428																																																	0													104	98	100					2																	187370557		2021	4172	6193	SO:0001583	missense	0				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.955G>T	2.37:g.187370557G>T	ENSP00000338788:p.Gly319Cys		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G319C	ENST00000337859.6	37	c.955	CCDS42791.1	2	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543967	0.65198	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.31247	1.5	5.87	4.98	0.66077	.	0.478557	0.25823	N	0.028075	T	0.29524	0.0736	N	0.22421	0.69	0.31755	N	0.634067	D	0.58620	0.983	P	0.49502	0.613	T	0.14035	-1.0487	10	0.48119	T	0.1	-16.981	14.7909	0.69841	0.0689:0.0:0.9311:0.0	.	319	Q8WU90	ZC3HF_HUMAN	C	319;114;319	ENSP00000338788:G319C	ENSP00000338788:G319C	G	+	1	0	ZC3H15	187078802	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	2.244000	0.43124	2.941000	0.99782	0.655000	0.94253	GGT	ZC3H15	-	NULL	ENSG00000065548		0.428	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	-	0	54	0	G	NM_018471		187370557	1	tier1	-	no_errors	ENST00000337859	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.821	T	T	187370557	G	T	187370557	3	4	37	1	0	0	0	0	1	0	0	0	17615	1000	35	3	985	3	ZC3H15	2	187370557	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	7723533	187370557	55828816	48	8894											
ITGAV	3685	genome.wustl.edu	37	chr2	187495554	187495554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatggacagggattttGtcaaggaggattcagcattg	10	12	14	5	0	2	1	2	1	0	0	2	5	2	5	0	4	2	2	0	4	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:187495554G>A	ENST00000261023.3	+	5	828	c.554G>A	c.(553-555)tGt>tAt	p.C185Y	ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.C139Y	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	185					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CAGGGATTTTGTCAAGGAGGA	0.299																																					Melanoma(58;108 1995 6081)												0													226	238	234					2																	187495554		2203	4300	6503	SO:0001583	missense	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.554G>A	2.37:g.187495554G>A	ENSP00000261023:p.Cys185Tyr		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.C185Y	ENST00000261023.3	37	c.554	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738778	0.69304	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000433736	T;D	0.92595	0.25;-3.07	5.97	5.09	0.68999	.	.	.	.	.	D	0.96769	0.8945	M	0.92026	3.265	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97541	1.0086	9	0.87932	D	0	.	14.9005	0.70675	0.0:0.0:0.8565:0.1435	.	139;185	E7EWZ6;P06756	.;ITAV_HUMAN	Y	185;185;139	ENSP00000261023:C185Y;ENSP00000404291:C139Y	ENSP00000261023:C185Y	C	+	2	0	ITGAV	187203799	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.966000	0.76073	1.511000	0.48818	0.655000	0.94253	TGT	ITGAV	-	NULL	ENSG00000138448		0.299	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	-	0	35	0	G	NM_002210		187495554	1	tier1	-	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	A	A	187495554	G	A	187495554	3	1	37	1	0	0	0	0	1	0	0	0	7915	1377	48	3	623	3	ITGAV	2	187495554	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	124997	187495554	55703819	49	8895											
COL3A1	1281	genome.wustl.edu	37	chr2	189861937	189861937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggccctggaggacctgGccctcaggtacgtagctttc	6	9	14	12	1	1	0	1	0	0	0	2	2	1	2	3	6	2	3	3	6	2	3	rs587779477		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:189861937G>T	ENST00000304636.3	+	25	1978	c.1808G>T	c.(1807-1809)gGc>gTc	p.G603V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G603V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	603	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGAGGACCTGGCCCTCAGGTA	0.433																																																	0													144	146	146					2																	189861937		2203	4300	6503	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1808G>T	2.37:g.189861937G>T	ENSP00000304408:p.Gly603Val		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G603V	ENST00000304636.3	37	c.1808	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786770	0.70337	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.94138	-3.36;-3.36	6.03	6.03	0.97812	.	0.000000	0.49916	D	0.000133	D	0.98207	0.9407	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98638	1.0674	10	0.72032	D	0.01	.	20.1547	0.98103	0.0:0.0:1.0:0.0	.	603	P02461	CO3A1_HUMAN	V	603	ENSP00000304408:G603V;ENSP00000315243:G603V	ENSP00000304408:G603V	G	+	2	0	COL3A1	189570182	1.000000	0.71417	0.970000	0.41538	0.683000	0.39861	7.707000	0.84623	2.868000	0.98415	0.555000	0.69702	GGC	COL3A1	-	NULL	ENSG00000168542		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0	65	0	G	NM_000090		189861937	1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	missense	7.02	52	4	SNP	1.000	T	T	189861937	G	T	189861937	3	4	37	1	0	0	0	0	1	0	0	0	3695	1203	42	3	1906	3	COL3A1	2	189861937	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2366383	189861937	53337436	50	8896											
PARD3B	117583	genome.wustl.edu	37	chr2	206041301	206041301	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaagacaaacagaaaGgtaagagtctattcatttta	17	10	7	7	0	2	3	1	0	1	3	3	3	3	3	1	1	1	1	1	1	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:206041301G>T	ENST00000406610.2	+	13	2131	c.1924G>T	c.(1924-1926)Ggt>Tgt	p.G642C	PARD3B_ENST00000462231.1_Splice_Site_p.G642C|PARD3B_ENST00000351153.1_Splice_Site_p.G642C|PARD3B_ENST00000349953.3_Splice_Site_p.G642C|PARD3B_ENST00000358768.2_Splice_Site_p.G580C	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	642					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.G642R(1)|p.G580R(1)|p.G581R(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAAACAGAAAGGTAAGAGTCT	0.353																																																	3	Substitution - Missense(3)	lung(3)											83	75	78					2																	206041301		1863	4100	5963	SO:0001630	splice_region_variant	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1924+1G>T	2.37:g.206041301G>T			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G642C	ENST00000406610.2	37	c.1924		2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691197	0.68271	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.12361	2.89;2.69;2.88;2.89	5.9	5.9	0.94986	.	0.735823	0.13314	N	0.397276	T	0.21267	0.0512	N	0.22421	0.69	0.26768	N	0.96986	D;P;P;P;P	0.61080	0.989;0.861;0.873;0.771;0.956	P;B;B;P;P	0.54629	0.757;0.233;0.371;0.455;0.455	T	0.11299	-1.0593	10	0.62326	D	0.03	.	17.4224	0.87518	0.0:0.0:1.0:0.0	.	642;642;642;580;642	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	C	642;580;642;642	ENSP00000385848:G642C;ENSP00000351618:G580C;ENSP00000317261:G642C;ENSP00000340280:G642C	ENSP00000340280:G642C	G	+	1	0	PARD3B	205749546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.153000	0.71819	2.786000	0.95864	0.561000	0.74099	GGT	PARD3B	-	NULL	ENSG00000116117		0.353	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1		0	44	0	G	NM_057177	Missense_Mutation	206041301	1			no_errors	ENST00000406610	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	206041301	G	T	206041301	5	4	37	1	0	0	0	0	0	0	1	0	11483	1014	35	3	1974	3	PARD3B	2	206041301	Splice_Site	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	16179364	206041301	37158072	51	8897											
MDH1B	130752	genome.wustl.edu	37	chr2	207619836	207619836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaatgcgtggggcatatctCatgagtaaaactgtcttcag	11	11	11	8	1	3	1	2	1	2	0	4	1	3	1	0	2	2	3	0	2	4	3	rs374037340		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:207619836C>T	ENST00000374412.3	-	5	1082	c.807G>A	c.(805-807)atG>atA	p.M269I	MDH1B_ENST00000449792.1_Missense_Mutation_p.M171I|MDH1B_ENST00000454776.2_Missense_Mutation_p.M269I|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	269					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.M269I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GGGCATATCTCATGAGTAAAA	0.488																																					Pancreas(76;29 1355 28675 37177 51207)												1	Substitution - Missense(1)	lung(1)											131	116	121					2																	207619836		2203	4300	6503	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.807G>A	2.37:g.207619836C>T	ENSP00000363533:p.Met269Ile		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.M269I	ENST00000374412.3	37	c.807	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	0.395	-0.921216	0.02396	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.08370	3.1;3.1;3.1	5.59	0.615	0.17608	NAD(P)-binding domain (1);	0.604868	0.19796	N	0.105878	T	0.04724	0.0128	N	0.21194	0.64	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.002	T	0.45702	-0.9243	10	0.13108	T	0.6	-11.3068	7.9048	0.29755	0.0:0.5875:0.1015:0.311	.	269;269	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	I	269;171;269	ENSP00000363533:M269I;ENSP00000416577:M171I;ENSP00000389916:M269I	ENSP00000363533:M269I	M	-	3	0	MDH1B	207328081	0.038000	0.19896	0.000000	0.03702	0.001000	0.01503	0.317000	0.19487	0.107000	0.17824	-0.136000	0.14681	ATG	MDH1B	-	NULL	ENSG00000138400		0.488	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2		0	32	0	C	NM_001039845		207619836	-1			no_errors	ENST00000374412	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.004	T	T	207619836	C	T	207619836	3	4	37	1	0	0	0	0	1	0	0	0	9447	826	29	3	781	3	MDH1B	2	207619836	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1578535	207619836	35579537	52	8898											
EPHA4	2043	genome.wustl.edu	37	chr2	222365784	222365784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcagctctgaaaaagcctCggtcacaggtgcacgaggtg	10	8	13	10	2	3	1	2	1	1	0	4	2	3	1	1	3	3	2	1	3	2	0	rs375924623		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr2:222365784C>T	ENST00000281821.2	-	4	973	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	EPHA4_ENST00000409854.1_Missense_Mutation_p.R311Q|EPHA4_ENST00000409938.1_Missense_Mutation_p.R311Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R260Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	311	Cys-rich.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GAAAAAGCCTCGGTCACAGGT	0.532																																																	0								C	GLN/ARG	0,4406		0,0,2203	147	124	131		932	6.1	1	2		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA4	NM_004438.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	311/987	222365784	1,13005	2203	4300	6503	SO:0001583	missense	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.932G>A	2.37:g.222365784C>T	ENSP00000281821:p.Arg311Gln		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R311Q	ENST00000281821.2	37	c.932	CCDS2447.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.75|15.75	2.926449|2.926449	0.52759|0.52759	0.0|0.0	1.16E-4|1.16E-4	ENSG00000116106|ENSG00000116106	ENST00000441679|ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	.|T;T;T;T	.|0.62232	.|0.04;0.04;0.04;0.04	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.060275	.|0.64402	.|D	.|0.000004	T|T	0.44456|0.44456	0.1294|0.1294	N|N	0.12746|0.12746	0.255|0.255	0.45962|0.45962	D|D	0.998785|0.998785	.|B	.|0.27910	.|0.193	.|B	.|0.21151	.|0.033	T|T	0.34403|0.34403	-0.9830|-0.9830	5|10	.|0.24483	.|T	.|0.36	.|.	16.8423|16.8423	0.85972|0.85972	0.0:0.8718:0.1281:0.0|0.0:0.8718:0.1281:0.0	.|.	.|311	.|P54764	.|EPHA4_HUMAN	K|Q	48|311;311;311;260	.|ENSP00000281821:R311Q;ENSP00000386276:R311Q;ENSP00000386829:R311Q;ENSP00000375923:R260Q	.|ENSP00000281821:R311Q	E|R	-|-	1|2	0|0	EPHA4|EPHA4	222074028|222074028	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.743000|3.743000	0.55104|0.55104	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|CGA	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000116106		0.532	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3		0	60	0	C			222365784	-1			no_errors	ENST00000281821	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	222365784	C	T	222365784	3	4	37	1	0	0	0	0	1	0	0	0	5185	884	31	1	2084	1	EPHA4	2	222365784	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	14745948	222365784	20833589	53	8899											
CNTN6	27255	genome.wustl.edu	37	chr3	1367589	1367589	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagctagtggaaagccaaAcccttggtatacatggttaa	15	10	9	7	0	0	0	0	0	0	0	0	1	0	1	2	3	4	3	2	3	8	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:1367589A>T	ENST00000446702.2	+	9	1664	c.1037A>T	c.(1036-1038)aAc>aTc	p.N346I	CNTN6_ENST00000350110.2_Missense_Mutation_p.N346I|CNTN6_ENST00000539053.1_Missense_Mutation_p.N274I			Q9UQ52	CNTN6_HUMAN	contactin 6	346	Ig-like C2-type 4.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGAAAGCCAAACCCTTGGTAT	0.378																																																	0													122	115	117					3																	1367589		2203	4300	6503	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1037A>T	3.37:g.1367589A>T	ENSP00000407822:p.Asn346Ile		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N346I	ENST00000446702.2	37	c.1037	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	5.998	0.368012	0.11352	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.67698	-0.28;-0.28;-0.28	5.26	-8.6	0.00889	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.867540	0.02514	N	0.091874	T	0.37839	0.1018	N	0.04063	-0.285	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.23368	-1.0190	10	0.38643	T	0.18	.	6.1381	0.20245	0.0963:0.2605:0.4792:0.1641	.	346	Q9UQ52	CNTN6_HUMAN	I	346;274;346	ENSP00000407822:N346I;ENSP00000442791:N274I;ENSP00000341882:N346I	ENSP00000341882:N346I	N	+	2	0	CNTN6	1342589	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-0.832000	0.04400	-1.041000	0.03266	-0.321000	0.08615	AAC	CNTN6	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134115		0.378	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0	35	0	A	NM_014461		1367589	1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.000	T	T	1367589	A	T	1367589	3	4	37	1	0	0	0	0	1	0	0	0	3652	43	2	5	1067	5	CNTN6	3	1367589	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09		1367589	196654841	54	8900											
RPL32	6161	genome.wustl.edu	37	chr3	12877607	12877607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcctactcattttcttCactgcgcagcctggcattgg	6	13	9	13	1	3	0	2	0	1	0	3	0	3	0	2	2	5	3	2	2	1	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:12877607C>T	ENST00000429711.2	-	4	493	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	RPL32_ENST00000396957.1_Missense_Mutation_p.E132K|RPL32_ENST00000273223.6_Missense_Mutation_p.E150K|RPL32_ENST00000396953.2_Missense_Mutation_p.E132K|RPL32_ENST00000435983.1_Missense_Mutation_p.E132K	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	132					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TCATTTTCTTCACTGCGCAGC	0.468																																																	0													72	72	72					3																	12877607		2203	4300	6503	SO:0001583	missense	0			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"L ribosomal proteins"	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.394G>A	3.37:g.12877607C>T	ENSP00000416429:p.Glu132Lys		B2R4Q3|P02433	Missense_Mutation	SNP	pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e	p.E132K	ENST00000429711.2	37	c.394	CCDS2614.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097855	0.76870	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131	.	.	.	5.41	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	M	0.93062	3.375	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.73319	-0.4020	9	0.51188	T	0.08	0.3669	12.1672	0.54138	0.0:0.916:0.0:0.084	.	132	P62910	RL32_HUMAN	K	132;132;150;132;132;132	.	ENSP00000339064:E150K	E	-	1	0	RPL32	12852607	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.844000	0.69430	1.400000	0.46741	0.655000	0.94253	GAA	RPL32	-	superfamily_Ribosomal_L32e	ENSG00000144713		0.468	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL32	HGNC	protein_coding	OTTHUMT00000252032.2	-	0	74	0	C	NM_000994		12877607	-1	tier1	-	no_errors	ENST00000396953	ensembl	human	known	74_37	missense	30.88	47	21	SNP	1.000	T	T	12877607	C	T	12877607	3	4	37	1	0	0	0	0	1	0	0	0	13627	835	29	3	17	3	RPL32	3	12877607	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	11510018	12877607	185144823	55	8901											
COLQ	8292	genome.wustl.edu	37	chr3	15540090	15540090	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctgaatgatgagcccGtcattgtgaggcagggccca	9	7	15	10	2	1	4	1	4	0	0	1	5	1	4	2	3	1	2	2	3	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:15540090G>T	ENST00000383788.5	-	2	232				COLQ_ENST00000435459.2_Missense_Mutation_p.T2K|COLQ_ENST00000383786.5_Intron|COLQ_ENST00000383781.4_Missense_Mutation_p.T2K|COLQ_ENST00000383787.2_Intron|COLQ_ENST00000383785.2_Intron|COLQ_ENST00000603808.1_Intron|MIR4270_ENST00000581799.1_RNA	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase						acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGATGAGCCCGTCATTGTGAG	0.587																																																	0													56	61	59					3																	15540090		2042	3923	5965	SO:0001627	intron_variant	0			AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase", "collagenic tail of endplate acetylcholinesterase", "AChE Q subunit", "acetylcholinesterase-associated collagen"	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.107-8946C>A	3.37:g.15540090G>T			B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	pfam_Collagen,tigrfam_Myxo_disulph_rpt	p.T2K	ENST00000383788.5	37	c.5	CCDS33709.1	3	.	.	.	.	.	.	.	.	.	.	g	2.349	-0.349368	0.05173	.	.	ENSG00000206561	ENST00000383781;ENST00000435459;ENST00000420589	D;D	0.90788	-2.73;-2.68	4.87	-1.59	0.08453	.	.	.	.	.	T	0.77136	0.4086	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.17433	0.018	T	0.62296	-0.6884	9	0.46703	T	0.11	.	5.285	0.15696	0.4257:0.141:0.4333:0.0	.	2	Q9Y215-2	.	K	2	ENSP00000373291:T2K;ENSP00000402511:T2K	ENSP00000373291:T2K	T	-	2	0	COLQ	15515094	0.000000	0.05858	0.001000	0.08648	0.081000	0.17604	-0.107000	0.10873	-0.783000	0.04534	-0.215000	0.12644	ACG	COLQ	-	NULL	ENSG00000206561		0.587	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COLQ	HGNC	protein_coding	OTTHUMT00000343575.1	-	0	45	0	G	NM_005677		15540090	-1	tier1	-	no_errors	ENST00000383781	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T	T	15540090	G	T	15540090	1	4	37	0	1	0	0	0	0	0	0	0	3720	1145	40	2		2	COLQ	3	15540090	Intron	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2662483	15540090	182482340	56	8902											
ANKRD28	23243	genome.wustl.edu	37	chr3	15778589	15778589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgcagtcctccctgctCgatcagatacgtttacatta	10	13	7	11	2	1	1	1	0	0	1	4	2	3	1	2	0	4	4	2	0	4	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:15778589C>A	ENST00000399451.2	-	5	780	c.413G>T	c.(412-414)cGa>cTa	p.R138L	ANKRD28_ENST00000383777.1_Missense_Mutation_p.R171L|ANKRD28_ENST00000497037.1_5'UTR|RN7SL4P_ENST00000584058.1_RNA	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	138						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTCCCTGCTCGATCAGATAC	0.438																																																	0													157	151	153					3																	15778589		1969	4148	6117	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.413G>T	3.37:g.15778589C>A	ENSP00000382379:p.Arg138Leu		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R171L	ENST00000399451.2	37	c.512	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.486960	0.96323	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15603	2.41;2.41;2.41	5.37	5.37	0.77165	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.40767	0.1130	L	0.60012	1.86	0.80722	D	1	D;P;P	0.89917	1.0;0.851;0.95	D;P;P	0.77004	0.989;0.611;0.618	T	0.09907	-1.0653	10	0.52906	T	0.07	.	19.1023	0.93279	0.0:1.0:0.0:0.0	.	171;168;138	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	L	138;171;138	ENSP00000382379:R138L;ENSP00000373287:R171L;ENSP00000397341:R138L	ENSP00000373287:R171L	R	-	2	0	ANKRD28	15753593	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.776000	0.85560	2.513000	0.84729	0.650000	0.86243	CGA	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.438	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1		0	35	0	C	NM_015199		15778589	-1			no_errors	ENST00000383777	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	15778589	C	A	15778589	3	1	37	1	0	0	0	0	1	0	0	0	656	884	31	2	2844	2	ANKRD28	3	15778589	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	238499	15778589	182243841	57	8903											
LRRC3B	116135	genome.wustl.edu	37	chr3	26751271	26751271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagtatgtgtcccaaGggctgtctttgttcttcctc	4	16	9	12	0	3	0	0	0	3	0	6	0	5	0	3	1	1	3	3	1	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:26751271G>T	ENST00000396641.2	+	2	700	c.108G>T	c.(106-108)aaG>aaT	p.K36N	LRRC3B_ENST00000456208.2_Missense_Mutation_p.K36N|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000417744.1_Missense_Mutation_p.K36N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	36	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGTGTCCCAAGGGCTGTCTTT	0.443																																																	0													176	164	168					3																	26751271		2203	4300	6503	SO:0001583	missense	0			AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.108G>T	3.37:g.26751271G>T	ENSP00000379880:p.Lys36Asn		Q5M8T0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.K36N	ENST00000396641.2	37	c.108	CCDS2644.1	3	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735271	0.48939	.	.	ENSG00000179796	ENST00000396641;ENST00000414619;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	6.17	4.19	0.49359	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	M	0.76170	2.325	0.54753	D	0.999982	P	0.51147	0.942	P	0.52646	0.705	D	0.94768	0.7942	10	0.52906	T	0.07	-19.4498	4.8361	0.13466	0.364:0.0:0.636:0.0	.	36	Q96PB8	LRC3B_HUMAN	N	36	ENSP00000379880:K36N;ENSP00000398184:K36N;ENSP00000406370:K36N;ENSP00000394940:K36N	ENSP00000379880:K36N	K	+	3	2	LRRC3B	26726275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.422000	0.44696	1.633000	0.50488	-0.137000	0.14449	AAG	LRRC3B	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000179796		0.443	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC3B	HGNC	protein_coding	OTTHUMT00000252997.2	-	0	35	0	G	NM_052953		26751271	1	tier1	-	no_errors	ENST00000396641	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	26751271	G	T	26751271	3	4	37	1	0	0	0	0	1	0	0	0	9031	991	35	3	110	3	LRRC3B	3	26751271	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	10972682	26751271	171271159	58	8904											
FYCO1	79443	genome.wustl.edu	37	chr3	46021323	46021323	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttctctttctgatcaaaCtgggtagggaaagggaaagg	11	10	13	7	0	3	1	1	1	2	0	4	3	3	3	1	4	1	1	1	4	4	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:46021323C>T	ENST00000296137.2	-	4	368		c.e4-1		FYCO1_ENST00000535325.1_Splice_Site	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTGATCAAACTGGGTAGGGA	0.488																																																	0													156	160	159					3																	46021323		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.163-1G>A	3.37:g.46021323C>T			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Splice_Site	SNP	-	e3-1	ENST00000296137.2	37	c.163-1	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008059	0.75046	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7942	0.88565	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FYCO1	45996327	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	7.477000	0.81069	2.641000	0.89580	0.585000	0.79938	.	FYCO1	-	-	ENSG00000163820		0.488	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	-	0	39	0	C	NM_024513	Intron	46021323	-1	tier1	-	no_errors	ENST00000535325	ensembl	human	known	74_37	splice_site	8.70	42	4	SNP	1.000	T	T	46021323	C	T	46021323	5	4	37	1	0	0	0	0	0	0	1	0	6149	579	20	3	4334	3	FYCO1	3	46021323	Splice_Site	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	19270052	46021323	152001107	59	8905											
CCR3	1232	genome.wustl.edu	37	chr3	46306820	46306820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatgtggtggtggtgatGatcctcataaaatacaggag	12	10	14	5	0	1	2	1	2	0	0	2	3	2	3	1	5	1	1	1	5	4	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:46306820G>T	ENST00000357422.2	+	4	714	c.171G>T	c.(169-171)atG>atT	p.M57I	CCR3_ENST00000395940.2_Missense_Mutation_p.M57I|CCR3_ENST00000395942.2_Missense_Mutation_p.M57I|CCR3_ENST00000541018.1_Missense_Mutation_p.M57I|CCR3_ENST00000545097.1_Missense_Mutation_p.M78I			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	57					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGGTGGTGATGATCCTCATAA	0.527																																																	0													157	127	137					3																	46306820		2203	4300	6503	SO:0001583	missense	0			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.171G>T	3.37:g.46306820G>T	ENSP00000350003:p.Met57Ile		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.M78I	ENST00000357422.2	37	c.234	CCDS2738.1	3	.	.	.	.	.	.	.	.	.	.	G	11.62	1.691682	0.30052	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000452454;ENST00000395942	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.709898	0.12482	N	0.465030	T	0.19765	0.0475	N	0.02129	-0.67	0.25280	N	0.989443	B;B;B;B	0.12630	0.006;0.004;0.004;0.002	B;B;B;B	0.15052	0.004;0.001;0.01;0.012	T	0.23547	-1.0185	10	0.52906	T	0.07	.	16.051	0.80763	0.0:0.1333:0.8667:0.0	.	57;57;78;57	Q8TDP5;Q8TDP6;F5GWL6;P51677	.;.;.;CCR3_HUMAN	I	57;78;57;57;57;57	ENSP00000350003:M57I;ENSP00000441600:M78I;ENSP00000440097:M57I;ENSP00000379271:M57I;ENSP00000389336:M57I;ENSP00000379273:M57I	ENSP00000350003:M57I	M	+	3	0	CCR3	46281824	1.000000	0.71417	0.959000	0.39883	0.393000	0.30537	1.452000	0.35156	2.884000	0.98904	0.655000	0.94253	ATG	CCR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183625		0.527	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2		0	40	0	G			46306820	1			no_errors	ENST00000545097	ensembl	human	known	74_37	missense	5.71	32	2	SNP	0.998	T	T	46306820	G	T	46306820	3	4	37	1	0	0	0	0	1	0	0	0	2949	1290	45	3	240	3	CCR3	3	46306820	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	285497	46306820	151715610	60	8906											
FLNB	2317	genome.wustl.edu	37	chr3	58145286	58145286	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattaaattctcaggaatcGggattaaaagttaaccagcc	15	11	8	7	1	1	0	1	0	1	0	3	2	1	2	2	2	2	2	2	2	7	5	rs141740204		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:58145286G>T	ENST00000295956.4	+	42	7059	c.6894G>T	c.(6892-6894)tcG>tcT	p.S2298S	FLNB_ENST00000358537.3_Silent_p.S2274S|FLNB_ENST00000348383.5_Silent_p.S2257S|FLNB_ENST00000357272.4_3'UTR|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000429972.2_Silent_p.S2287S|FLNB_ENST00000490882.1_Silent_p.S2329S|FLNB_ENST00000493452.1_Silent_p.S2105S|FLNB_ENST00000419752.2_Silent_p.S2118S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2298	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.S2298S(2)|p.S2329S(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CTCAGGAATCGGGATTAAAAG	0.502																																																	3	Substitution - coding silent(3)	lung(2)|large_intestine(1)											55	55	55					3																	58145286		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6894G>T	3.37:g.58145286G>T			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S2298	ENST00000295956.4	37	c.6894	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.502	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1		0	54	0	G	NM_001457		58145286	1			no_errors	ENST00000295956	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.957	T	T	58145286	G	T	58145286	2	4	37	1	0	0	0	0	0	0	0	1	5956	1103	39	2		2	FLNB	3	58145286	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	11838466	58145286	139877144	61	8907											
FOXP1	27086	genome.wustl.edu	37	chr3	71015091	71015091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcactctcgttgctgttGgtatgctccattgccccgtt	3	16	9	13	2	2	0	1	0	1	0	4	0	3	0	3	1	3	6	3	1	1	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:71015091G>T	ENST00000318789.4	-	20	2364	c.1839C>A	c.(1837-1839)acC>acA	p.T613T	FOXP1_ENST00000475937.1_Silent_p.T613T|FOXP1_ENST00000493089.1_Silent_p.T612T|FOXP1_ENST00000484350.1_Silent_p.T537T|FOXP1_ENST00000468577.1_Silent_p.T549T|FOXP1_ENST00000498215.1_Silent_p.T613T|FOXP1_ENST00000491238.1_Silent_p.T615T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	613			T -> N. {ECO:0000269|PubMed:20950788}.		negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGTTGCTGTTGGTATGCTCCA	0.517			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													315	259	278					3																	71015091		2203	4300	6503	SO:0001819	synonymous_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1839C>A	3.37:g.71015091G>T			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.T613	ENST00000318789.4	37	c.1839	CCDS2914.1	3																																																																																			FOXP1	-	NULL	ENSG00000114861		0.517	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0	62	0	G	NM_032682		71015091	-1			no_errors	ENST00000318789	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	T	T	71015091	G	T	71015091	2	4	37	1	0	0	0	0	0	0	0	1	6050	1335	47	3		3	FOXP1	3	71015091	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	12869805	71015091	127007339	62	8908											
EPHA3	2042	genome.wustl.edu	37	chr3	89462301	89462301	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaacagtaaaacttccAggtctcaggacttatgttga	13	11	7	10	0	2	1	2	1	1	0	4	2	3	2	2	2	2	2	2	2	4	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:89462301A>G	ENST00000336596.2	+	10	1998	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	EPHA3_ENST00000494014.1_Silent_p.P591P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	591					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAAAACTTCCAGGTCTCAGGA	0.363										TSP Lung(6;0.00050)																																							0													110	107	108					3																	89462301		2203	4299	6502	SO:0001819	synonymous_variant	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1773A>G	3.37:g.89462301A>G			Q9H2V3|Q9H2V4	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P591	ENST00000336596.2	37	c.1773	CCDS2922.1	3																																																																																			EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000044524		0.363	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1		0	68	0	A	NM_005233		89462301	1			no_errors	ENST00000336596	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	G	G	89462301	A	G	89462301	2	3	37	1	0	0	0	0	0	0	0	1	5184	175	7	4		4	EPHA3	3	89462301	Silent	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	18447210	89462301	108560129	63	8909											
TMEM45A	55076	genome.wustl.edu	37	chr3	100295818	100295818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcctcagaagttggacttCtgaaaaatgctgaacgagaa	14	9	10	8	1	2	4	1	2	1	2	3	6	3	5	1	1	2	3	1	1	5	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:100295818C>G	ENST00000323523.4	+	6	1097	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	TMEM45A_ENST00000403410.1_Missense_Mutation_p.L278V	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	262						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AGTTGGACTTCTGAAAAATGC	0.358																																																	0													103	111	108					3																	100295818		2203	4300	6503	SO:0001583	missense	0			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.784C>G	3.37:g.100295818C>G	ENSP00000319009:p.Leu262Val		Q53YW5	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.L262V	ENST00000323523.4	37	c.784	CCDS2937.1	3	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954821	0.53293	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.34667	1.39;1.35	5.91	5.03	0.67393	.	0.000000	0.64402	D	0.000002	T	0.53818	0.1820	M	0.68952	2.095	0.48452	D	0.99965	D	0.76494	0.999	D	0.80764	0.994	T	0.43032	-0.9416	10	0.25751	T	0.34	-9.7734	11.6326	0.51185	0.0:0.918:0.0:0.082	.	262	Q9NWC5	TM45A_HUMAN	V	262;278	ENSP00000319009:L262V;ENSP00000385089:L278V	ENSP00000319009:L262V	L	+	1	2	TMEM45A	101778508	1.000000	0.71417	1.000000	0.80357	0.361000	0.29550	2.289000	0.43523	2.793000	0.96121	0.655000	0.94253	CTG	TMEM45A	-	NULL	ENSG00000181458		0.358	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	HGNC	protein_coding	OTTHUMT00000317571.1	-	0	26	0	C	NM_018004		100295818	1	tier1	-	no_errors	ENST00000323523	ensembl	human	known	74_37	missense	36.73	31	18	SNP	1.000	G	G	100295818	C	G	100295818	3	3	37	1	0	0	0	0	1	0	0	0	16216	912	32	5	802	5	TMEM45A	3	100295818	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	10833517	100295818	97726612	64	8910											
KIAA1257	57501	genome.wustl.edu	37	chr3	128711907	128711907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcacagggaaggccaGtgagatggtgaatttgcagg	12	9	14	6	0	1	2	1	2	0	1	1	4	1	3	1	4	1	1	1	4	3	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:128711907G>T	ENST00000265068.5	-	2	408	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.L81M|KIAA1257_ENST00000515659.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	81										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GGGAAGGCCAGTGAGATGGTG	0.547																																																	0													150	159	156					3																	128711907		2092	4216	6308	SO:0001583	missense	0			AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.241C>A	3.37:g.128711907G>T	ENSP00000265068:p.Leu81Met		Q8IXY7|Q8N5T4	Missense_Mutation	SNP	NULL	p.L81M	ENST00000265068.5	37	c.241	CCDS46905.1	3	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226285	0.39300	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	4.37	1.59	0.23543	.	.	.	.	.	T	0.53465	0.1798	L	0.27053	0.805	0.49051	D	0.999748	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.52162	-0.8612	8	0.59425	D	0.04	-11.4143	5.8984	0.18951	0.3299:0.0:0.6701:0.0	.	81;81	Q9ULG3;D6RH05	K1257_HUMAN;.	M	81	.	ENSP00000265068:L81M	L	-	1	2	KIAA1257	130194597	0.309000	0.24518	0.643000	0.29450	0.380000	0.30137	0.326000	0.19646	0.607000	0.29982	0.484000	0.47621	CTG	KIAA1257	-	NULL	ENSG00000114656		0.547	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	KIAA1257	HGNC	protein_coding	OTTHUMT00000358430.1	-	0	30	0	G	NM_020741		128711907	-1	tier1	-	no_errors	ENST00000265068	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.392	T	T	128711907	G	T	128711907	3	4	37	1	0	0	0	0	1	0	0	0	8245	1020	36	3	1016	3	KIAA1257	3	128711907	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	28416089	128711907	69310523	65	8911											
COL6A5	256076	genome.wustl.edu	37	chr3	130188024	130188024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	attggccatgccttgcagtgGacaattgacaatgtctttgt	9	14	10	8	0	1	1	0	1	1	0	1	2	1	2	2	2	2	1	2	2	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:130188024G>C	ENST00000432398.2	+	38	7670	c.7176G>C	c.(7174-7176)tgG>tgC	p.W2392C	COL6A5_ENST00000265379.6_Missense_Mutation_p.W2392C	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2392	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.W431*(1)|p.W2392*(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCTTGCAGTGGACAATTGACA	0.383																																																	2	Substitution - Nonsense(2)	lung(2)											125	112	116					3																	130188024		1856	4106	5962	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7176G>C	3.37:g.130188024G>C	ENSP00000390895:p.Trp2392Cys		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.W2392C	ENST00000432398.2	37	c.7176		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.93|11.93	1.784880|1.784880	0.31593|0.31593	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|D;D;D;D	.|0.83075	.|-1.68;-1.68;-1.68;-1.68	5.35|5.35	5.35|5.35	0.76521|0.76521	.|von Willebrand factor, type A (3);	.|0.000000	.|0.49916	.|D	.|0.000129	D|D	0.91243|0.91243	0.7240|0.7240	M|M	0.86178|0.86178	2.8|2.8	0.44036|0.44036	D|D	0.996763|0.996763	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.92145|0.92145	0.5723|0.5723	5|10	.|0.72032	.|D	.|0.01	.|.	12.88|12.88	0.58012|0.58012	0.0:0.0:0.837:0.163|0.0:0.0:0.837:0.163	.|.	.|2392;2392	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	H|C	644|2392;2392;335;227	.|ENSP00000390895:W2392C;ENSP00000265379:W2392C;ENSP00000362250:W335C;ENSP00000424968:W227C	.|ENSP00000265379:W2392C	D|W	+|+	1|3	0|0	COL6A5|COL6A5	131670714|131670714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.175000|5.175000	0.65021|0.65021	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	GAC|TGG	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.383	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	60	0	G	NM_153264		130188024	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	15.09	43	8	SNP	1.000	C	C	130188024	G	C	130188024	3	2	37	1	0	0	0	0	1	0	0	0	3709	1183	41	5	7322	5	COL6A5	3	130188024	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1476117	130188024	67834406	66	8912											
COL6A5	256076	genome.wustl.edu	37	chr3	130188259	130188259	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacttggtccaacttggcCgaacccacaagccagattgg	11	8	9	13	1	1	1	1	0	0	1	2	2	2	1	4	3	3	0	4	3	3	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:130188259C>T	ENST00000432398.2	+	38	7905	c.7411C>T	c.(7411-7413)Cga>Tga	p.R2471*	COL6A5_ENST00000265379.6_Nonsense_Mutation_p.R2471*	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2471	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAACTTGGCCGAACCCACAA	0.398																																																	0																																										SO:0001587	stop_gained	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7411C>T	3.37:g.130188259C>T	ENSP00000390895:p.Arg2471*		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R2471*	ENST00000432398.2	37	c.7411		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	51|51	17.806177|17.806177	0.99893|0.99893	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	.|.	.|.	.|.	5.0|5.0	4.03|4.03	0.46877|0.46877	.|.	.|0.000000	.|0.42821	.|D	.|0.000642	T|.	0.23649|.	0.0572|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.28038|.	-1.0056|.	3|.	.|0.02654	.|T	.|1	.|.	9.8126|9.8126	0.40833|0.40833	0.4106:0.5894:0.0:0.0|0.4106:0.5894:0.0:0.0	.|.	.|.	.|.	.|.	L|X	722|2471;2471;414;306	.|.	.|ENSP00000265379:R2471X	P|R	+|+	2|1	0|2	COL6A5|COL6A5	131670949|131670949	0.893000|0.893000	0.30496|0.30496	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	1.343000|1.343000	0.33930|0.33930	2.318000|2.318000	0.78349|0.78349	0.563000|0.563000	0.77884|0.77884	CCG|CGA	COL6A5	-	smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.398	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	63	0	C	NM_153264		130188259	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	nonsense	24.62	49	16	SNP	1.000	T	T	130188259	C	T	130188259	4	4	37	1	0	0	0	0	0	1	0	0	3709	644	23	1	7557	1	COL6A5	3	130188259	Nonsense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	235	130188259	67834171	67	8913											
CPA3	1359	genome.wustl.edu	37	chr3	148603919	148603919	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcactgatgttctatcaactCgatatgaaacccgctacatc	12	11	6	12	2	2	2	1	2	1	0	4	3	2	2	1	0	3	3	1	0	5	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:148603919C>G	ENST00000296046.3	+	10	1073	c.1021C>G	c.(1021-1023)Cga>Gga	p.R341G	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	341					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TCTATCAACTCGATATGAAAC	0.353																																																	0													103	97	99					3																	148603919		2203	4300	6503	SO:0001583	missense	0				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.1021C>G	3.37:g.148603919C>G	ENSP00000296046:p.Arg341Gly		Q96E94	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.R341G	ENST00000296046.3	37	c.1021	CCDS3138.1	3	.	.	.	.	.	.	.	.	.	.	C	7.869	0.727755	0.15507	.	.	ENSG00000163751	ENST00000296046	T	0.11495	2.77	4.52	1.54	0.23209	Peptidase M14, carboxypeptidase A (2);	0.367213	0.24991	N	0.033988	T	0.12008	0.0292	L	0.60012	1.86	0.09310	N	1	P	0.39696	0.683	B	0.40702	0.338	T	0.10019	-1.0648	10	0.52906	T	0.07	.	7.3313	0.26584	0.3062:0.6106:0.0:0.0832	.	341	P15088	CBPA3_HUMAN	G	341	ENSP00000296046:R341G	ENSP00000296046:R341G	R	+	1	2	CPA3	150086609	0.001000	0.12720	0.016000	0.15963	0.536000	0.34869	0.164000	0.16542	0.194000	0.20326	0.591000	0.81541	CGA	CPA3	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000163751		0.353	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	HGNC	protein_coding	OTTHUMT00000355974.1	-	0	56	0	C	NM_001870		148603919	1	tier1	-	no_errors	ENST00000296046	ensembl	human	known	74_37	missense	14.81	69	12	SNP	0.097	G	G	148603919	C	G	148603919	3	3	37	1	0	0	0	0	1	0	0	0	3798	876	31	5	1059	5	CPA3	3	148603919	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	18415660	148603919	49418511	68	8914											
PLCH1	23007	genome.wustl.edu	37	chr3	155282725	155282725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccacacagcgacagccctCttgcagcacccgtgcataca	10	7	7	17	2	1	0	0	0	1	0	2	1	2	0	3	0	6	3	3	0	1	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:155282725C>G	ENST00000340059.7	-	7	1011	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	PLCH1_ENST00000447496.2_Missense_Mutation_p.E338Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.E320Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.E320Q|PLCH1_ENST00000460012.1_Missense_Mutation_p.E320Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.E338Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	338	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGACAGCCCTCTTGCAGCACC	0.488																																																	0													148	134	139					3																	155282725		2203	4300	6503	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1012G>C	3.37:g.155282725C>G	ENSP00000345988:p.Glu338Gln		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E338Q	ENST00000340059.7	37	c.1012	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424450	0.62733	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.11	5.11	0.69529	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.409870	0.26796	N	0.022453	T	0.45677	0.1354	N	0.01284	-0.91	0.37290	D	0.908234	P;P;B	0.45212	0.823;0.853;0.143	P;P;B	0.50617	0.513;0.646;0.113	T	0.58289	-0.7662	10	0.19590	T	0.45	.	18.5371	0.91014	0.0:1.0:0.0:0.0	.	320;338;338	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Q	338;320;338;338;320;320	ENSP00000419100:E338Q;ENSP00000417502:E320Q;ENSP00000402759:E338Q;ENSP00000345988:E338Q;ENSP00000335469:E320Q;ENSP00000412977:E320Q	ENSP00000335469:E320Q	E	-	1	0	PLCH1	156765419	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.050000	0.57404	2.371000	0.80710	0.655000	0.94253	GAG	PLCH1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000114805		0.488	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	-	0	42	0	C	NM_014996		155282725	-1	tier1	-	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	G	G	155282725	C	G	155282725	3	3	37	1	0	0	0	0	1	0	0	0	12076	922	32	5	4152	5	PLCH1	3	155282725	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	6678806	155282725	42739705	69	8915											
ABCC5	10057	genome.wustl.edu	37	chr3	183681223	183681223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggacttgagatgtttccGgatagcactattgaagatgt	10	14	11	6	1	0	3	0	2	0	2	1	6	1	5	1	2	1	2	1	2	3	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:183681223G>A	ENST00000334444.6	-	15	2425	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	ABCC5_ENST00000265586.6_Missense_Mutation_p.R729W	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	729	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	AGATGTTTCCGGATAGCACTA	0.507																																																	0													165	173	170					3																	183681223		1918	4132	6050	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2185C>T	3.37:g.183681223G>A	ENSP00000333926:p.Arg729Trp		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R729W	ENST00000334444.6	37	c.2185	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288029	0.80803	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	T;T	0.80304	-1.36;-1.36	5.6	3.62	0.41486	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.147461	0.64402	D	0.000011	D	0.82486	0.5047	M	0.78637	2.42	0.45403	D	0.998381	P;D	0.58268	0.905;0.982	P;P	0.46144	0.453;0.505	D	0.86068	0.1536	10	0.66056	D	0.02	-7.0526	14.668	0.68924	0.0:0.0:0.7414:0.2586	.	729;729	Q86UX3;O15440	.;MRP5_HUMAN	W	729;665;729	ENSP00000333926:R729W;ENSP00000265586:R729W	ENSP00000265586:R729W	R	-	1	2	ABCC5	185163917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.412000	0.59787	2.644000	0.89710	0.655000	0.94253	CGG	ABCC5	-	superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000114770		0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1		0	69	0	G	NM_005688		183681223	-1			no_errors	ENST00000334444	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	183681223	G	A	183681223	3	1	37	1	0	0	0	0	1	0	0	0	56	1115	39	1	2192	1	ABCC5	3	183681223	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	28398498	183681223	14341207	70	8916											
HES1	3280	genome.wustl.edu	37	chr3	193854799	193854799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacattctggaaatgacagTgaagcacctccggaacctgc	12	7	11	11	1	1	2	0	2	1	0	2	5	2	5	3	3	3	1	3	3	3	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr3:193854799T>C	ENST00000232424.3	+	3	490	c.254T>C	c.(253-255)gTg>gCg	p.V85A		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GAAATGACAGTGAAGCACCTC	0.627																																																	0													61	63	62					3																	193854799		2203	4300	6503	SO:0001583	missense	0			L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"Basic helix-loop-helix proteins"	5192	protein-coding gene	gene with protein product		139605	"hairy homolog (Drosophila)", "hairy and enhancer of split 1, (Drosophila)"	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.254T>C	3.37:g.193854799T>C	ENSP00000232424:p.Val85Ala		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Missense_Mutation	SNP	pfam_Orange,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.V85A	ENST00000232424.3	37	c.254	CCDS3305.1	3	.	.	.	.	.	.	.	.	.	.	T	33	5.213493	0.95069	.	.	ENSG00000114315	ENST00000232424	D	0.98493	-4.96	4.75	4.75	0.60458	Helix-loop-helix DNA-binding (5);	0.133458	0.49916	U	0.000128	D	0.99312	0.9759	H	0.98295	4.195	0.80722	D	1	D	0.63880	0.993	D	0.65573	0.936	D	0.98534	1.0629	10	0.87932	D	0	-7.502	13.1164	0.59301	0.0:0.0:0.0:1.0	.	85	Q14469	HES1_HUMAN	A	85	ENSP00000232424:V85A	ENSP00000232424:V85A	V	+	2	0	HES1	195337493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.974000	0.88039	1.760000	0.52011	0.529000	0.55759	GTG	HES1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000114315		0.627	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HES1	HGNC	protein_coding	OTTHUMT00000342632.1	-	0	56	0	T			193854799	1	tier1	-	no_errors	ENST00000232424	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	C	C	193854799	T	C	193854799	3	2	37	1	0	0	0	0	1	0	0	0	7092	1696	59	4	264	4	HES1	3	193854799	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	10173576	193854799	4167631	71	8917											
NOP14	8602	genome.wustl.edu	37	chr4	2955331	2955331	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttggtctagcttctcCgtgagctcgagggcatcttc	5	13	11	12	2	4	1	0	1	4	0	7	2	4	1	1	2	2	3	1	2	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:2955331C>T	ENST00000314262.6	-	5	702	c.654G>A	c.(652-654)acG>acA	p.T218T	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.T218T|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Silent_p.T218T|NOP14_ENST00000416614.2_Silent_p.T218T	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	218					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTAGCTTCTCCGTGAGCTCGA	0.483																																																	0													276	256	263					4																	2955331		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.654G>A	4.37:g.2955331C>T			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Silent	SNP	pfam_Nop14	p.T218	ENST00000314262.6	37	c.654	CCDS33945.1	4																																																																																			NOP14	-	pfam_Nop14	ENSG00000087269		0.483	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0	35	0	C	NM_003703		2955331	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.013	T	T	2955331	C	T	2955331	2	4	37	1	0	0	0	0	0	0	0	1	10575	639	23	1		1	NOP14	4	2955331	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		2955331	188198945	72	8918											
SLIT2	9353	genome.wustl.edu	37	chr4	20552484	20552484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacatttctgttgtgcctGaaggtgctttcaatgatctt	8	17	9	7	0	3	3	1	3	2	0	3	3	3	3	1	1	2	2	1	1	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:20552484G>A	ENST00000504154.1	+	25	2776	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K	SLIT2_ENST00000503837.1_Missense_Mutation_p.E838K|SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503823.1_Missense_Mutation_p.E834K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E846K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	842					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTTGTGCCTGAAGGTGCTTT	0.343																																																	0													201	184	190					4																	20552484		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2524G>A	4.37:g.20552484G>A	ENSP00000422591:p.Glu842Lys		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E842K	ENST00000504154.1	37	c.2524	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157993	0.78114	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.86	5.86	0.93980	.	0.045582	0.85682	D	0.000000	T	0.50531	0.1621	L	0.31926	0.97	0.80722	D	1	P;P	0.37525	0.598;0.509	B;B	0.40477	0.33;0.245	T	0.48210	-0.9055	10	0.51188	T	0.08	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	834;842	O94813-3;O94813	.;SLIT2_HUMAN	K	834;842;846;838;838;43	ENSP00000427548:E834K;ENSP00000422591:E842K;ENSP00000273739:E846K;ENSP00000422261:E838K;ENSP00000421975:E43K	ENSP00000273739:E846K	E	+	1	0	SLIT2	20161582	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.764000	0.85297	2.937000	0.99478	0.650000	0.86243	GAA	SLIT2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000145147		0.343	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	30	0	G			20552484	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	20552484	G	A	20552484	3	1	37	1	0	0	0	0	1	0	0	0	14785	1291	45	3	2622	3	SLIT2	4	20552484	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	17597153	20552484	170601792	73	8919											
SLIT2	9353	genome.wustl.edu	37	chr4	20620418	20620418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcgaggggaaaggataaGagattattaccaaaagcagc	16	8	12	5	1	0	1	0	0	0	1	1	5	0	3	1	3	3	1	1	3	6	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:20620418G>C	ENST00000504154.1	+	37	4628	c.4376G>C	c.(4375-4377)aGa>aCa	p.R1459T	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1455T|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1451T|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1472T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1459	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAAGGATAAGAGATTATTAC	0.458																																																	0													97	98	98					4																	20620418		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4376G>C	4.37:g.20620418G>C	ENSP00000422591:p.Arg1459Thr		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1459T	ENST00000504154.1	37	c.4376	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350078	0.82132	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.82344	-1.6;-1.6;-1.5;-1.57	6.07	6.07	0.98685	Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.84683	2.71	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.68192	0.956;0.894	D	0.92021	0.5626	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1451;1459	O94813-3;O94813	.;SLIT2_HUMAN	T	1451;1459;1472;1455;1455	ENSP00000427548:R1451T;ENSP00000422591:R1459T;ENSP00000273739:R1472T;ENSP00000422261:R1455T	ENSP00000273739:R1472T	R	+	2	0	SLIT2	20229516	1.000000	0.71417	0.556000	0.28293	0.997000	0.91878	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	AGA	SLIT2	-	smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000145147		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2		0	31	0	G			20620418	1			no_errors	ENST00000504154	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	20620418	G	C	20620418	3	2	37	1	0	0	0	0	1	0	0	0	14785	942	33	5	4522	5	SLIT2	4	20620418	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	67934	20620418	170533858	74	8920											
ARAP2	116984	genome.wustl.edu	37	chr4	36230811	36230811	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttctatgcagatattctGatcagaagatggaacatggt	14	12	10	5	0	3	4	1	1	2	3	3	5	3	5	0	2	2	2	0	2	5	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:36230811G>A	ENST00000303965.4	-	2	787	c.298C>T	c.(298-300)Cag>Tag	p.Q100*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	100					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CAGATATTCTGATCAGAAGAT	0.363																																																	0													96	92	93					4																	36230811		2203	4300	6503	SO:0001587	stop_gained	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.298C>T	4.37:g.36230811G>A	ENSP00000302895:p.Gln100*		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.Q100*	ENST00000303965.4	37	c.298	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875504	0.72180	.	.	ENSG00000047365	ENST00000303965	.	.	.	5.8	0.626	0.17670	.	1.489770	0.04026	N	0.300576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.5221	0.16938	0.0637:0.3198:0.3922:0.2243	.	.	.	.	X	100	.	ENSP00000302895:Q100X	Q	-	1	0	ARAP2	35907206	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.336000	0.19823	0.043000	0.15746	0.650000	0.86243	CAG	ARAP2	-	NULL	ENSG00000047365		0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	33	0	G	NM_015230		36230811	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	nonsense	21.21	26	7	SNP	0.000	A	A	36230811	G	A	36230811	4	1	37	1	0	0	0	0	0	1	0	0	839	1299	45	3	4944	3	ARAP2	4	36230811	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	15610393	36230811	154923465	75	8921											
ATP8A1	10396	genome.wustl.edu	37	chr4	42627653	42627653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcagtgcaataaagagaAaaaatgaattagcagctctt	18	8	9	6	0	1	2	0	1	1	1	1	3	1	2	0	0	4	5	0	0	8	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:42627653A>G	ENST00000381668.5	-	3	473	c.242T>C	c.(241-243)tTt>tCt	p.F81S	ATP8A1_ENST00000510289.1_3'UTR|ATP8A1_ENST00000264449.10_Missense_Mutation_p.F81S	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	81					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AATAAAGAGAAAAAATGAATT	0.363																																																	0													90	91	90					4																	42627653		2203	4300	6503	SO:0001583	missense	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.242T>C	4.37:g.42627653A>G	ENSP00000371084:p.Phe81Ser		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.F81S	ENST00000381668.5	37	c.242	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	A	19.76	3.887103	0.72410	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.85258	-1.96;-1.96	5.8	5.8	0.92144	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94618	0.8265	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	0.967;1.0;1.0	D;D;D	0.97110	0.91;0.999;1.0	D	0.95897	0.8912	10	0.87932	D	0	.	16.4401	0.83898	1.0:0.0:0.0:0.0	.	81;81;81	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	S	81	ENSP00000371084:F81S;ENSP00000264449:F81S	ENSP00000264449:F81S	F	-	2	0	ATP8A1	42322410	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	8.818000	0.91991	2.340000	0.79590	0.528000	0.53228	TTT	ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	70	0	A	NM_006095		42627653	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	21.95	64	18	SNP	1.000	G	G	42627653	A	G	42627653	3	3	37	1	0	0	0	0	1	0	0	0	1193	14	1	4	3470	4	ATP8A1	4	42627653	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	6396842	42627653	148526623	76	8922											
CXCL6	6372	genome.wustl.edu	37	chr4	74702958	74702958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaagtttgtctggaccCggaagccccttttctaaaga	11	10	10	10	1	2	1	0	0	2	1	2	4	2	3	3	2	2	2	3	2	5	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:74702958C>A	ENST00000226317.5	+	3	535	c.281C>A	c.(280-282)cCg>cAg	p.P94Q	CXCL6_ENST00000503446.1_3'UTR|CXCL6_ENST00000515050.1_Missense_Mutation_p.P94Q	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	94					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGTCTGGACCCGGAAGCCCCT	0.443																																																	0													89	97	95					4																	74702958		2203	4300	6503	SO:0001583	missense	0			U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"Endogenous ligands"	10643	protein-coding gene	gene with protein product	"granulocyte chemotactic protein 2"	138965	"small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)", "chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.281C>A	4.37:g.74702958C>A	ENSP00000226317:p.Pro94Gln		B2R4X3|Q4W5D4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.P94Q	ENST00000226317.5	37	c.281	CCDS3560.1	4	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349057	0.41599	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.12984	2.63;2.63	3.87	3.87	0.44632	Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.93328	3.405	0.41943	D	0.990625	D	0.89917	1.0	D	0.97110	1.0	T	0.58177	-0.7682	10	0.87932	D	0	.	11.5238	0.50567	0.0:1.0:0.0:0.0	.	94	P80162	CXCL6_HUMAN	Q	94	ENSP00000226317:P94Q;ENSP00000424819:P94Q	ENSP00000226317:P94Q	P	+	2	0	CXCL6	74921822	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	4.003000	0.57061	2.150000	0.67090	0.650000	0.86243	CCG	CXCL6	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	ENSG00000124875		0.443	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXCL6	HGNC	protein_coding	OTTHUMT00000252283.2		0	27	0	C	NM_002993		74702958	1			no_errors	ENST00000226317	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	A	A	74702958	C	A	74702958	3	1	37	1	0	0	0	0	1	0	0	0	4097	652	23	2	291	2	CXCL6	4	74702958	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	32075305	74702958	116451318	77	8923											
CDS1	1040	genome.wustl.edu	37	chr4	85525396	85525396	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttgtctttttaattttagGaaacagatattgatgacaga	14	17	7	3	0	1	4	0	2	1	2	1	5	1	5	0	1	1	0	0	1	4	8			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:85525396G>T	ENST00000295887.5	+	2	541	c.118G>T	c.(118-120)Gaa>Taa	p.E40*		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTAATTTTAGGAAACAGATAT	0.363																																																	0													65	68	67					4																	85525396		2203	4300	6503	SO:0001630	splice_region_variant	0			U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.118-1G>T	4.37:g.85525396G>T			A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Nonsense_Mutation	SNP	pfam_PC_trans,pirsf_PC_Trfase_euk	p.E40*	ENST00000295887.5	37	c.118	CCDS3608.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.754605	0.98471	.	.	ENSG00000163624	ENST00000295887	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.2526	18.266	0.90052	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	.	E	+	1	0	CDS1	85744420	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.715000	0.74697	2.693000	0.91896	0.655000	0.94253	GAA	CDS1	-	pirsf_PC_Trfase_euk	ENSG00000163624		0.363	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS1	HGNC	protein_coding	OTTHUMT00000252817.2	-	0	55	0	G		Nonsense_Mutation	85525396	1	tier1	-	no_errors	ENST00000295887	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	T	T	85525396	G	T	85525396	5	4	37	1	0	0	0	0	0	0	1	0	3184	1188	41	3	124	3	CDS1	4	85525396	Splice_Site	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	10822438	85525396	105628880	78	8924											
MAPK10	5602	genome.wustl.edu	37	chr4	86952542	86952542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccattcttcaattgtgtGttctctttcatccaactgct	6	20	4	11	0	4	0	2	0	2	0	7	0	6	0	2	0	2	2	2	0	2	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:86952542G>T	ENST00000359221.3	-	12	1679	c.1153C>A	c.(1153-1155)Cac>Aac	p.H385N	MAPK10_ENST00000395161.2_Missense_Mutation_p.H385N|MAPK10_ENST00000395157.3_Missense_Mutation_p.H240N|MAPK10_ENST00000395160.3_Missense_Mutation_p.H240N|MAPK10_ENST00000449047.2_Missense_Mutation_p.H240N|MAPK10_ENST00000395166.1_Missense_Mutation_p.H347N|MAPK10_ENST00000395169.3_Missense_Mutation_p.H347N|MAPK10_ENST00000361569.2_Missense_Mutation_p.H385N			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	385					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TCAATTGTGTGTTCTCTTTCA	0.308																																																	0													125	118	120					4																	86952542		2203	4300	6503	SO:0001583	missense	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1153C>A	4.37:g.86952542G>T	ENSP00000352157:p.His385Asn		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.H385N	ENST00000359221.3	37	c.1153	CCDS34026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.500835|3.500835	0.64298|0.64298	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161|ENST00000515400	T;T;T;T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82641|0.82641	0.5081|0.5081	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	B;P;P;P;B|.	0.43287|.	0.339;0.802;0.554;0.698;0.145|.	P;P;B;P;B|.	0.51415|.	0.473;0.669;0.365;0.459;0.183|.	D|D	0.84310|0.84310	0.0510|0.0510	10|5	0.30854|.	T|.	0.27|.	-20.5741|-20.5741	18.1636|18.1636	0.89718|0.89718	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	271;240;347;385;385|.	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779|.	.;.;.;.;MK10_HUMAN|.	N|K	347;385;240;385;347;240;240;385|297	ENSP00000378598:H347N;ENSP00000352157:H385N;ENSP00000378586:H240N;ENSP00000355297:H385N;ENSP00000378595:H347N;ENSP00000378589:H240N;ENSP00000414469:H240N;ENSP00000378590:H385N|.	ENSP00000352157:H385N|.	H|T	-|-	1|2	0|0	MAPK10|MAPK10	87171566|87171566	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.649000|0.649000	0.38597|0.38597	8.450000|8.450000	0.90340|0.90340	2.566000|2.566000	0.86566|0.86566	0.563000|0.563000	0.77884|0.77884	CAC|ACA	MAPK10	-	superfamily_Kinase-like_dom	ENSG00000109339		0.308	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	-	0	62	0	G			86952542	-1	tier1	-	no_errors	ENST00000359221	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	86952542	G	T	86952542	3	4	37	1	0	0	0	0	1	0	0	0	9310	1377	48	3	258	3	MAPK10	4	86952542	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1427146	86952542	104201734	79	8925											
HSD17B13	345275	genome.wustl.edu	37	chr4	88231439	88231439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatacgatggaacaaaaatCattttcttattggtaagtat	16	15	6	4	1	2	0	1	0	1	0	2	2	2	1	0	2	2	2	0	2	8	8			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:88231439C>T	ENST00000328546.4	-	6	832	c.768G>A	c.(766-768)atG>atA	p.M256I	HSD17B13_ENST00000302219.6_Missense_Mutation_p.M220I	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	256						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GAACAAAAATCATTTTCTTAT	0.318																																																	0													98	100	100					4																	88231439		2202	4299	6501	SO:0001583	missense	0				CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18685	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 3"	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.768G>A	4.37:g.88231439C>T	ENSP00000333300:p.Met256Ile		A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.M256I	ENST00000328546.4	37	c.768	CCDS3618.1	4	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179469	0.38511	.	.	ENSG00000170509	ENST00000302219;ENST00000328546	D;D	0.88896	-2.44;-2.44	5.08	4.24	0.50183	.	0.160100	0.42682	D	0.000667	D	0.86108	0.5854	M	0.72894	2.215	0.32733	N	0.508704	B;B	0.11235	0.004;0.001	B;B	0.20577	0.03;0.005	T	0.82444	-0.0454	10	0.24483	T	0.36	.	8.507	0.33193	0.1513:0.7665:0.0:0.0822	.	220;256	Q7Z5P4-2;Q7Z5P4	.;DHB13_HUMAN	I	220;256	ENSP00000305438:M220I;ENSP00000333300:M256I	ENSP00000305438:M220I	M	-	3	0	HSD17B13	88450463	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.460000	0.35244	1.133000	0.42147	0.650000	0.86243	ATG	HSD17B13	-	NULL	ENSG00000170509		0.318	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B13	HGNC	protein_coding	OTTHUMT00000253052.1	-	0	122	0	C	NM_178135		88231439	-1	tier1	-	no_errors	ENST00000328546	ensembl	human	known	74_37	missense	22.02	85	24	SNP	1.000	T	T	88231439	C	T	88231439	3	4	37	1	0	0	0	0	1	0	0	0	7409	826	29	3	142	3	HSD17B13	4	88231439	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1278897	88231439	102922837	80	8926											
IBSP	3381	genome.wustl.edu	37	chr4	88732897	88732897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgaatacgagggggagtaCgaatacacgggcgccaatga	13	6	15	7	4	0	2	0	2	0	0	0	5	0	3	1	3	3	2	1	3	6	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:88732897C>T	ENST00000226284.5	+	7	856	c.789C>T	c.(787-789)taC>taT	p.Y263Y		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	263					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AGGGGGAGTACGAATACACGG	0.483																																																	0													71	64	66					4																	88732897		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.789C>T	4.37:g.88732897C>T				Silent	SNP	pfam_BSP_II	p.Y263	ENST00000226284.5	37	c.789	CCDS3624.1	4																																																																																			IBSP	-	pfam_BSP_II	ENSG00000029559		0.483	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2		0	64	0	C			88732897	1			no_errors	ENST00000226284	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.672	T	T	88732897	C	T	88732897	2	4	37	1	0	0	0	0	0	0	0	1	7502	547	19	1		1	IBSP	4	88732897	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	501458	88732897	102421379	81	8927											
HERC3	8916	genome.wustl.edu	37	chr4	89608381	89608381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatagatctgccgagaaaGctatggagtgattgaacaga	16	9	11	5	1	1	5	0	2	1	3	1	7	1	6	1	1	3	1	1	1	6	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:89608381G>T	ENST00000402738.1	+	23	2827	c.2588G>T	c.(2587-2589)aGc>aTc	p.S863I	RNU6-33P_ENST00000384793.1_RNA|HERC3_ENST00000543130.1_Missense_Mutation_p.S307I|HERC3_ENST00000264345.3_Missense_Mutation_p.S863I	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	863					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGCCGAGAAAGCTATGGAGTG	0.388																																																	0													89	90	90					4																	89608381		2203	4300	6503	SO:0001583	missense	0			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2588G>T	4.37:g.89608381G>T	ENSP00000385684:p.Ser863Ile		A8K1S5|Q8IXX3	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S863I	ENST00000402738.1	37	c.2588	CCDS34028.1	4	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607090	0.28623	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.88	4.04	0.47022	HECT (4);	0.237095	0.49305	D	0.000157	T	0.42177	0.1191	N	0.16567	0.415	0.47905	D	0.999543	B	0.29671	0.254	B	0.40101	0.319	T	0.27706	-1.0066	10	0.22109	T	0.4	.	13.3288	0.60475	0.0759:0.0:0.9241:0.0	.	863	Q15034	HERC3_HUMAN	I	863;863;307;256	ENSP00000385684:S863I;ENSP00000264345:S863I;ENSP00000441703:S307I;ENSP00000421021:S256I	ENSP00000264345:S863I	S	+	2	0	HERC3	89827404	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.278000	0.78587	1.413000	0.46997	0.655000	0.94253	AGC	HERC3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000138641		0.388	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2	-	0	69	0	G	NM_014606		89608381	1	tier1	-	no_errors	ENST00000264345	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	89608381	G	T	89608381	3	4	37	1	0	0	0	0	1	0	0	0	7086	971	34	3	2670	3	HERC3	4	89608381	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	875484	89608381	101545895	82	8928											
GSTCD	79807	genome.wustl.edu	37	chr4	106640346	106640346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagagaaaaagcttagtgagCctgttagagtgcataatgat	15	11	11	4	0	0	4	0	2	0	2	0	5	0	4	1	0	3	3	1	0	6	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:106640346C>T	ENST00000515279.1	+	3	776	c.556C>T	c.(556-558)Cct>Tct	p.P186S	GSTCD_ENST00000360505.5_Missense_Mutation_p.P186S|GSTCD_ENST00000507281.1_Missense_Mutation_p.P99S|GSTCD_ENST00000394728.3_Missense_Mutation_p.P186S|GSTCD_ENST00000394730.3_Missense_Mutation_p.P99S|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	186	GST C-terminal.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GCTTAGTGAGCCTGTTAGAGT	0.458																																																	0													109	119	115					4																	106640346		2203	4300	6503	SO:0001583	missense	0			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.556C>T	4.37:g.106640346C>T	ENSP00000422354:p.Pro186Ser		A8K8J0|A8MVD3|H9KV97|Q9H8S3	Missense_Mutation	SNP	pfam_rRNA_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like	p.P186S	ENST00000515279.1	37	c.556	CCDS43257.1	4	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941491	0.92526	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000394728	.	.	.	5.17	5.17	0.71159	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.108809	0.64402	D	0.000004	D	0.84745	0.5540	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87171	0.2221	9	0.87932	D	0	-12.8027	18.8657	0.92292	0.0:1.0:0.0:0.0	.	99;186	D6R9W2;Q8NEC7	.;GSTCD_HUMAN	S	99;99;186;186;186	.	ENSP00000353695:P186S	P	+	1	0	GSTCD	106859795	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	7.023000	0.76437	2.684000	0.91462	0.650000	0.86243	CCT	GSTCD	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000138780		0.458	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	HGNC	protein_coding	OTTHUMT00000363981.1	-	0	41	0	C	NM_024751		106640346	1	tier1	-	no_errors	ENST00000360505	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	106640346	C	T	106640346	3	4	37	1	0	0	0	0	1	0	0	0	6862	739	26	3	562	3	GSTCD	4	106640346	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	17031965	106640346	84513930	83	8929											
EGF	1950	genome.wustl.edu	37	chr4	110897167	110897167	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgctttcttgattaaaGgagattattctggactgata	10	17	10	4	0	2	3	0	2	2	1	2	5	2	4	0	2	1	1	0	2	4	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:110897167G>T	ENST00000265171.5	+	13	2274		c.e13-1		EGF_ENST00000503392.1_Splice_Site|EGF_ENST00000509793.1_Splice_Site	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor						activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTTGATTAAAGGAGATTATTC	0.353																																																	0													143	161	155					4																	110897167		2203	4300	6503	SO:0001630	splice_region_variant	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1830-1G>T	4.37:g.110897167G>T			B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Splice_Site	SNP	-	e13-1	ENST00000265171.5	37	c.1830-1	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496602	0.64186	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3699	0.74554	0.0:0.0:0.86:0.14	.	.	.	.	.	-1	.	.	.	+	.	.	EGF	111116616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.302000	0.89953	2.665000	0.90641	0.655000	0.94253	.	EGF	-	-	ENSG00000138798		0.353	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	-	0	31	0	G		Intron	110897167	1	tier1	-	no_errors	ENST00000265171	ensembl	human	known	74_37	splice_site	9.76	37	4	SNP	1.000	T	T	110897167	G	T	110897167	5	4	37	1	0	0	0	0	0	0	1	0	4976	1014	35	3	1879	3	EGF	4	110897167	Splice_Site	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	4256821	110897167	80257109	84	8930											
C4orf31	79625	genome.wustl.edu	37	chr4	121958158	121958158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctacataagcggtgctcAtgttgctgttgatgttgacc	8	14	10	9	1	1	2	1	2	0	0	1	2	1	2	2	1	5	5	2	1	3	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:121958158A>G	ENST00000379692.4	-	4	1494	c.968T>C	c.(967-969)aTg>aCg	p.M323T	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	323	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)	p.M323R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGCGGTGCTCATGTTGCTGTT	0.418																																																	1	Substitution - Missense(1)	urinary_tract(1)											164	137	146					4																	121958158		2203	4300	6503	SO:0001583	missense	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.968T>C	4.37:g.121958158A>G	ENSP00000369014:p.Met323Thr		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.M323T	ENST00000379692.4	37	c.968	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	A	1.169	-0.641641	0.03531	.	.	ENSG00000173376	ENST00000379692	T	0.52057	0.68	5.88	-6.47	0.01902	.	0.381500	0.34002	N	0.004347	T	0.23094	0.0558	N	0.12746	0.255	0.40986	D	0.984813	B	0.02656	0.0	B	0.01281	0.0	T	0.07751	-1.0756	10	0.17832	T	0.49	-7.416	15.585	0.76475	0.5346:0.0:0.4654:0.0	.	323	Q8TB73	NDNF_HUMAN	T	323	ENSP00000369014:M323T	ENSP00000369014:M323T	M	-	2	0	NDNF	122177608	0.977000	0.34250	0.601000	0.28877	0.977000	0.68977	0.572000	0.23684	-1.050000	0.03230	-0.290000	0.09829	ATG	NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000173376		0.418	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2		0	18	0	A	NM_024574		121958158	-1			no_errors	ENST00000379692	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.668	G	G	121958158	A	G	121958158	3	3	37	1	0	0	0	0	1	0	0	0	2268	217	8	4	742	4	C4orf31	4	121958158	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	11060991	121958158	69196118	85	8931											
DCHS2	54798	genome.wustl.edu	37	chr4	155412323	155412323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttgaacaactgggcagagGagcccgaggccgcccacagc	10	3	15	13	2	0	2	0	1	0	1	0	4	0	3	3	4	4	2	3	4	2	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr4:155412323G>T	ENST00000339452.1	-	1	545	c.185C>A	c.(184-186)tCc>tAc	p.S62Y	DCHS2_ENST00000443500.1_Missense_Mutation_p.S62Y|DCHS2_ENST00000456341.2_Missense_Mutation_p.S55Y	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	375	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGGCAGAGGAGCCCGAGGC	0.687																																																	0													18	31	27					4																	155412323		692	1591	2283	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.185C>A	4.37:g.155412323G>T	ENSP00000345062:p.Ser62Tyr		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S62Y	ENST00000339452.1	37	c.185	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160969	0.38119	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.59083	0.29;0.29;0.29	5.24	5.24	0.73138	.	.	.	.	.	T	0.70046	0.3179	L	0.57536	1.79	0.09310	N	1	D;P	0.76494	0.999;0.94	D;P	0.70487	0.969;0.459	T	0.61466	-0.7057	9	0.62326	D	0.03	.	10.12	0.42614	0.0:0.1476:0.6999:0.1525	.	62;62	E9PG03;E9PC11	.;.	Y	62;62;55;62	ENSP00000345062:S62Y;ENSP00000408543:S55Y;ENSP00000395539:S62Y	ENSP00000345062:S62Y	S	-	2	0	DCHS2	155631773	0.227000	0.23707	0.736000	0.30914	0.518000	0.34316	1.867000	0.39499	2.444000	0.82710	0.462000	0.41574	TCC	DCHS2	-	NULL	ENSG00000197410		0.687	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0	57	0	G	NM_001142552		155412323	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.283	T	T	155412323	G	T	155412323	3	4	37	1	0	0	0	0	1	0	0	0	4297	1174	41	3	10899	3	DCHS2	4	155412323	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	33454165	155412323	35741953	86	8932											
MARCH6	10299	genome.wustl.edu	37	chr5	10382027	10382027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacacttgtggcctttgcAtggttgggagttgttcctct	5	17	11	8	0	1	0	0	0	1	0	2	1	2	1	2	3	2	4	2	3	2	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:10382027A>G	ENST00000274140.5	+	4	438	c.306A>G	c.(304-306)gcA>gcG	p.A102A	MARCH6_ENST00000449913.2_Intron|MARCH6_ENST00000503788.1_Intron	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	102					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGCCTTTGCATGGTTGGGAG	0.378																																																	0													329	311	317					5																	10382027		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.306A>G	5.37:g.10382027A>G			A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.A102	ENST00000274140.5	37	c.306	CCDS34135.1	5																																																																																			MARCH6	-	NULL	ENSG00000145495		0.378	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	-	0	28	0	A	NM_005885		10382027	1	tier1	-	no_errors	ENST00000274140	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.966	G	G	10382027	A	G	10382027	2	3	37	1	0	0	0	0	0	0	0	1	9343	204	8	4		4	MARCH6	5	10382027	Silent	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09		10382027	170533233	87	8933											
CDH10	1008	genome.wustl.edu	37	chr5	24498600	24498600	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaattctcacaaaaacAgccacgcgtgttgtctcttt	12	12	5	12	2	2	0	1	0	2	0	5	0	3	0	2	0	2	1	2	0	4	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:24498600A>C	ENST00000264463.4	-	9	1929	c.1422T>G	c.(1420-1422)gcT>gcG	p.A474A	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	474	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCACAAAAACAGCCACGCGTG	0.388										HNSCC(23;0.051)																																							0													83	83	83					5																	24498600		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1422T>G	5.37:g.24498600A>C			Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C429G	ENST00000264463.4	37	c.1285	CCDS3892.1	5																																																																																			CDH10	-	superfamily_Cadherin-like	ENSG00000040731		0.388	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	74	0	A	NM_006727		24498600	-1	tier1	-	no_errors	ENST00000510477	ensembl	human	known	74_37	missense	8.55	106	10	SNP	1.000	C	C	24498600	A	C	24498600	2	2	37	1	0	0	0	0	0	0	0	1	3103	175	7	4		4	CDH10	5	24498600	Silent	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	14116573	24498600	156416660	88	8934											
NUP155	9631	genome.wustl.edu	37	chr5	37304888	37304888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtattagccaattataaaGggcaatactaaagagctcat	16	12	7	6	0	1	1	1	0	0	1	1	1	1	1	1	1	3	3	1	1	10	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:37304888G>T	ENST00000231498.3	-	27	3318	c.3115C>A	c.(3115-3117)Ctt>Att	p.L1039I	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.L975I|NUP155_ENST00000381843.2_Missense_Mutation_p.L980I	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1039					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATTATAAAGGGCAATACTA	0.328																																																	0													137	140	139					5																	37304888		2202	4300	6502	SO:0001583	missense	0			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"nucleoporin 155kD"			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3115C>A	5.37:g.37304888G>T	ENSP00000231498:p.Leu1039Ile		Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.L1039I	ENST00000231498.3	37	c.3115	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025854	0.75390	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	D;D;D	0.84223	-1.82;-1.8;-1.76	5.54	5.54	0.83059	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.054540	0.85682	D	0.000000	D	0.83991	0.5374	L	0.34521	1.04	0.58432	D	0.999993	P;B	0.41366	0.747;0.338	P;B	0.45610	0.487;0.277	D	0.84488	0.0609	10	0.51188	T	0.08	-2.8718	19.4812	0.95011	0.0:0.0:1.0:0.0	.	975;1039	E9PF10;O75694	.;NU155_HUMAN	I	1039;980;1001;975	ENSP00000231498:L1039I;ENSP00000371265:L980I;ENSP00000422019:L975I	ENSP00000231498:L1039I	L	-	1	0	NUP155	37340645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.189000	0.77747	2.600000	0.87896	0.655000	0.94253	CTT	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C	ENSG00000113569		0.328	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	-	0	41	0	G	NM_153485, NM_004298		37304888	-1	tier1	-	no_errors	ENST00000231498	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	37304888	G	T	37304888	3	4	37	1	0	0	0	0	1	0	0	0	10795	1000	35	3	1096	3	NUP155	5	37304888	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	12806288	37304888	143610372	89	8935											
CENPH	64946	genome.wustl.edu	37	chr5	68491608	68491608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgagataaaaaagcttGcattagacaggtaattatta	16	14	7	4	0	0	2	0	1	0	2	0	3	0	2	0	1	2	3	0	1	7	8			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:68491608G>T	ENST00000283006.2	+	4	391	c.304G>T	c.(304-306)Gca>Tca	p.A102S	CENPH_ENST00000515001.1_Missense_Mutation_p.A102S	NM_022909.3	NP_075060.1			centromere protein H											kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAAAAGCTTGCATTAGACAG	0.333																																																	0													32	33	33					5																	68491608		2197	4292	6489	SO:0001583	missense	0			AB035124	CCDS3998.1	5p15.2	2013-11-05			ENSG00000153044	ENSG00000153044			17268	protein-coding gene	gene with protein product		605607				11092768, 15502821	Standard	NM_022909		Approved		uc003jvp.3	Q9H3R5	OTTHUMG00000097816	ENST00000283006.2:c.304G>T	5.37:g.68491608G>T	ENSP00000283006:p.Ala102Ser			Missense_Mutation	SNP	pfam_CENP-H	p.A102S	ENST00000283006.2	37	c.304	CCDS3998.1	5	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104200	0.37145	.	.	ENSG00000153044	ENST00000283006;ENST00000515001	.	.	.	4.72	2.01	0.26516	.	0.416073	0.23091	N	0.052028	T	0.41858	0.1177	L	0.32530	0.975	0.23156	N	0.998207	D;D	0.89917	0.996;1.0	D;D	0.71184	0.935;0.972	T	0.12142	-1.0559	9	0.66056	D	0.02	-15.0048	6.5877	0.22630	0.2904:0.0:0.7096:0.0	.	102;102	B3KVZ3;Q9H3R5	.;CENPH_HUMAN	S	102	.	ENSP00000283006:A102S	A	+	1	0	CENPH	68527364	1.000000	0.71417	0.907000	0.35723	0.241000	0.25554	2.761000	0.47589	0.476000	0.27440	-0.150000	0.13652	GCA	CENPH	-	NULL	ENSG00000153044		0.333	CENPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPH	HGNC	protein_coding	OTTHUMT00000215083.1		0	98	0	G			68491608	1			no_errors	ENST00000283006	ensembl	human	known	74_37	missense	5.15	92	5	SNP	0.934	T	T	68491608	G	T	68491608	3	4	37	1	0	0	0	0	1	0	0	0	3239	1319	46	3	318	3	CENPH	5	68491608	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	31186720	68491608	112423652	90	8936											
FCHO2	115548	genome.wustl.edu	37	chr5	72285328	72285328	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcaattattcacaacttgGgtgagttaatttcttcctct	11	16	6	8	0	3	1	1	1	2	0	4	1	4	1	1	1	2	2	1	1	5	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:72285328G>C	ENST00000430046.2	+	3	316	c.200G>C	c.(199-201)gGa>gCa	p.G67A	FCHO2_ENST00000287761.6_Splice_Site_p.G67A|FCHO2_ENST00000341845.6_Splice_Site_p.G67A|FCHO2_ENST00000512348.1_Splice_Site_p.G67A	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	67	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Mediates dimerization and binding to membranes enriched in Pi(4,5)-P2 and induces their tubulation.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCACAACTTGGGTGAGTTAAT	0.348																																																	0													110	104	106					5																	72285328		1842	4068	5910	SO:0001630	splice_region_variant	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.200+1G>C	5.37:g.72285328G>C			A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.G67A	ENST00000430046.2	37	c.200	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675825	0.88445	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348;ENST00000287761	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.13	5.13	0.70059	Fps/Fes/Fer/CIP4 homology (3);	0.049048	0.85682	D	0.000000	T	0.73737	0.3625	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.73708	0.981;0.939;0.965	T	0.79610	-0.1732	10	0.87932	D	0	-20.6916	17.1181	0.86694	0.0:0.0:1.0:0.0	.	67;67;67	E9PG79;Q0JRZ9-2;Q0JRZ9	.;.;FCHO2_HUMAN	A	67	ENSP00000393776:G67A;ENSP00000344034:G67A;ENSP00000427296:G67A;ENSP00000287761:G67A	ENSP00000287761:G67A	G	+	2	0	FCHO2	72321084	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.109000	0.94291	2.545000	0.85829	0.585000	0.79938	GGA	FCHO2	-	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	ENSG00000157107		0.348	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	-	0	42	0	G	XM_291142	Missense_Mutation	72285328	1	tier1	-	no_errors	ENST00000341845	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	C	C	72285328	G	C	72285328	5	2	37	1	0	0	0	0	0	0	1	0	5810	1246	43	5	210	5	FCHO2	5	72285328	Splice_Site	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3793720	72285328	108629932	91	8937											
AP3B1	8546	genome.wustl.edu	37	chr5	77330193	77330193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattgaacttaccacaactgGaaactggcagtctgagtaga	15	9	9	8	0	1	3	0	2	1	1	1	4	1	4	1	2	4	2	1	2	6	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:77330193G>T	ENST00000255194.6	-	24	3061	c.2886C>A	c.(2884-2886)ttC>ttA	p.F962L	AP3B1_ENST00000519295.1_Missense_Mutation_p.F913L|AP3B1_ENST00000523204.1_5'UTR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	962					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ACCACAACTGGAAACTGGCAG	0.353									Hermansky-Pudlak syndrome																																								0													73	76	75					5																	77330193		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2886C>A	5.37:g.77330193G>T	ENSP00000255194:p.Phe962Leu		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.F962L	ENST00000255194.6	37	c.2886	CCDS4041.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.39|15.39	2.818683|2.818683	0.50633|0.50633	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.59502|.	0.26;0.29|.	5.75|5.75	3.93|3.93	0.45458|0.45458	.|.	0.049062|.	0.85682|.	D|.	0.000000|.	T|T	0.62196|0.62196	0.2408|0.2408	L|L	0.55990|0.55990	1.75|1.75	0.48040|0.48040	D|D	0.999579|0.999579	B|.	0.21520|.	0.057|.	B|.	0.18871|.	0.023|.	T|T	0.60900|0.60900	-0.7171|-0.7171	10|5	0.24483|.	T|.	0.36|.	-7.2301|-7.2301	12.5379|12.5379	0.56152|0.56152	0.1366:0.0:0.8634:0.0|0.1366:0.0:0.8634:0.0	.|.	962|.	O00203|.	AP3B1_HUMAN|.	L|Y	962;913|62	ENSP00000255194:F962L;ENSP00000430597:F913L|.	ENSP00000255194:F962L|.	F|S	-|-	3|2	2|0	AP3B1|AP3B1	77365949|77365949	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.038000|2.038000	0.41184|0.41184	1.544000|1.544000	0.49359|0.49359	0.650000|0.650000	0.86243|0.86243	TTC|TCC	AP3B1	-	pirsf_AP3_beta	ENSG00000132842		0.353	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	-	0	40	0	G			77330193	-1	tier1	-	no_errors	ENST00000255194	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	77330193	G	T	77330193	3	4	37	1	0	0	0	0	1	0	0	0	744	1165	41	3	414	3	AP3B1	5	77330193	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5044865	77330193	103585067	92	8938											
EFNA5	1946	genome.wustl.edu	37	chr5	106763018	106763018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcggtccatttggagaGtgaggccggttacattccca	8	11	12	10	2	1	2	1	1	0	1	3	3	3	2	3	4	2	1	3	4	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:106763018G>A	ENST00000333274.6	-	2	599	c.318C>T	c.(316-318)caC>caT	p.H106H	EFNA5_ENST00000509503.1_Silent_p.H106H	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	106	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell-cell adhesion (GO:0022407)|regulation of focal adhesion assembly (GO:0051893)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rho GTPase activity (GO:0032319)|retinal ganglion cell axon guidance (GO:0031290)	anchored component of external side of plasma membrane (GO:0031362)|plasma membrane (GO:0005886)	chemorepellent activity (GO:0045499)|ephrin receptor binding (GO:0046875)			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CATTTGGAGAGTGAGGCCGGT	0.473																																																	0													98	96	97					5																	106763018		2202	4300	6502	SO:0001819	synonymous_variant	0			U26403	CCDS4097.1	5q21	2011-03-09			ENSG00000184349	ENSG00000184349		"Ephrins"	3225	protein-coding gene	gene with protein product		601535		EPLG7		8661153, 9245480	Standard	NM_001962		Approved	AF1, LERK7	uc003kol.3	P52803	OTTHUMG00000128741	ENST00000333274.6:c.318C>T	5.37:g.106763018G>A				Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.H106	ENST00000333274.6	37	c.318	CCDS4097.1	5																																																																																			EFNA5	-	pfam_Ephrin,superfamily_Cupredoxin	ENSG00000184349		0.473	EFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA5	HGNC	protein_coding	OTTHUMT00000250652.1	-	0	68	0	G	NM_001962		106763018	-1	tier1	-	no_errors	ENST00000333274	ensembl	human	known	74_37	silent	20.31	51	13	SNP	1.000	A	A	106763018	G	A	106763018	2	1	37	1	0	0	0	0	0	0	0	1	4968	1020	36	3		3	EFNA5	5	106763018	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	29432825	106763018	74152242	93	8939											
VDAC1	7416	genome.wustl.edu	37	chr5	133309491	133309491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacatacctggctttaGagtctgagtgtatcctaaac	12	11	8	10	0	1	2	0	1	1	1	2	2	2	2	2	1	3	3	2	1	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:133309491G>T	ENST00000265333.3	-	8	995	c.751C>A	c.(751-753)Cta>Ata	p.L251I	VDAC1_ENST00000395044.3_Missense_Mutation_p.L251I|VDAC1_ENST00000395047.2_Missense_Mutation_p.L251I	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	251					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCTGGCTTTAGAGTCTGAGTG	0.348																																					NSCLC(127;1776 1806 35523 41489 48154)												0													125	127	126					5																	133309491		2203	4300	6503	SO:0001583	missense	0				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.751C>A	5.37:g.133309491G>T	ENSP00000265333:p.Leu251Ile		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	pfam_Porin_Euk/Tom40,prints_Porin_Euk	p.L251I	ENST00000265333.3	37	c.751	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510610	0.85389	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047	T;T;T	0.61274	0.12;0.12;0.12	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	M	0.86805	2.84	0.80722	D	1	D	0.56968	0.978	D	0.83275	0.996	T	0.80094	-0.1526	10	0.52906	T	0.07	.	13.0627	0.59015	0.0847:0.0:0.9153:0.0	.	251	P21796	VDAC1_HUMAN	I	251	ENSP00000265333:L251I;ENSP00000378484:L251I;ENSP00000378487:L251I	ENSP00000265333:L251I	L	-	1	2	VDAC1	133337390	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.441000	0.73439	2.630000	0.89119	0.467000	0.42956	CTA	VDAC1	-	pfam_Porin_Euk/Tom40,prints_Porin_Euk	ENSG00000213585		0.348	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1		0	56	0	G			133309491	-1			no_errors	ENST00000265333	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	133309491	G	T	133309491	3	4	37	1	0	0	0	0	1	0	0	0	17195	933	33	3	108	3	VDAC1	5	133309491	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	26546473	133309491	47605769	94	8940											
KDM3B	51780	genome.wustl.edu	37	chr5	137727938	137727939	+	Frame_Shift_Ins	INS	-	-	C																															caagggccggcctcggactgINScccccctgaaaggtgatcct																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:137727938_137727939insC	ENST00000314358.5	+	8	2817_2818	c.2617_2618insC	c.(2617-2619)gccfs	p.A873fs	KDM3B_ENST00000394866.1_Frame_Shift_Ins_p.A529fs|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	873					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCTCGGACTGCCCCCCTGAAA	0.609																																																	0																																										SO:0001589	frameshift_variant	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2623dupC	5.37:g.137727944_137727944dupC	ENSP00000326563:p.Ala873fs		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Ins	INS	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L875fs	ENST00000314358.5	37	c.2617_2618	CCDS34242.1	5																																																																																			KDM3B	-	NULL	ENSG00000120733		0.609	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1		0	25	0	-	NM_016604		137727939	1	tier1		no_errors	ENST00000314358	ensembl	human	known	74_37	frame_shift_ins	9.52	19	2	INS	0.986:0.996	C	C	137727939	-	C	137727938	7	5	37	1	0	1	1	0	0	0	0	0	8154	1319	46	0	2647	0	KDM3B	5	137727938	Frame_Shift_Ins	INS	-	TCGA-JY-A6FD-01A-11D-A33E-09	4418447	137727938	43187322	95	8941											
MGC29506	51237	genome.wustl.edu	37	chr5	138725510	138725512	+	In_Frame_Del	DEL	CAG	CAG	-																															cctgggatggcccaggctccCagcagcagcagcagcagtgg																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:138725510_138725512delCAG	ENST00000302125.8	-	1	91_93	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	MZB1_ENST00000457570.2_In_Frame_Del_p.L12del|MZB1_ENST00000412103.2_5'UTR	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	12					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											CCCAGGCTCCcagcagcagcagc	0.626																																																	0										3,22,3657		0,0,3,3,16,1819						1.3	0.7			37	1,48,7121		0,0,1,6,36,3542	no	codingComplex	MZB1	NM_016459.3		0,0,4,9,52,5361	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6834,0.679,0.6819				4,70,10778				SO:0001651	inframe_deletion	0			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"plasma cell-induced ER protein 1", "proapoptotic caspase adaptor protein", "mesenteric oestrogen-dependent adipose gene- 7"	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.34_36delCTG	5.37:g.138725519_138725521delCAG	ENSP00000303920:p.Leu12del		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	In_Frame_Del	DEL	NULL	p.L12in_frame_del	ENST00000302125.8	37	c.36_34	CCDS47273.1	5																																																																																			MZB1	-	NULL	ENSG00000170476		0.626	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1		0	24	0	CAG	NM_016459		138725512	-1	tier1		no_errors	ENST00000503481	ensembl	human	known	74_37	in_frame_del	15.00	17	3	DEL	0.366:0.352:0.265	-	-	138725512	CAG	-	138725510	7	5	37	1	0	1	0	1	0	0	0	0	9589	581	21	0	549	0	MGC29506	5	138725510	In_Frame_Del	DEL	CAG	TCGA-JY-A6FD-01A-11D-A33E-09	997572	138725510	42189750	96	8942											
PCDHB6	56130	genome.wustl.edu	37	chr5	140530577	140530577	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgctcaggagctctatGaagcacaagtccctgagaac	12	9	10	10	0	2	2	1	2	1	1	3	4	3	3	1	1	4	4	1	1	4	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:140530577G>T	ENST00000231136.1	+	1	739	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	PCDHB6_ENST00000543635.1_Nonsense_Mutation_p.E111*	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	247	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGCTCTATGAAGCACAAGT	0.547																																																	0													50	52	52					5																	140530577		2203	4300	6503	SO:0001587	stop_gained	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.739G>T	5.37:g.140530577G>T	ENSP00000231136:p.Glu247*		B2R8R9	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E247*	ENST00000231136.1	37	c.739	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217366	0.79352	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	.	.	.	4.85	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	5.0071	0.14293	0.2535:0.1737:0.5728:0.0	.	.	.	.	X	111;247;32	.	ENSP00000231136:E247X	E	+	1	0	PCDHB6	140510761	0.000000	0.05858	0.910000	0.35882	0.232000	0.25224	0.458000	0.21892	1.114000	0.41781	0.561000	0.74099	GAA	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113211		0.547	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2		0	31	0	G	NM_018939		140530577	1			no_errors	ENST00000231136	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	0.966	T	T	140530577	G	T	140530577	4	4	37	1	0	0	0	0	0	1	0	0	11585	1291	45	3	741	3	PCDHB6	5	140530577	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1805067	140530577	40384683	97	8943											
PCDHB7	56129	genome.wustl.edu	37	chr5	140554584	140554584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggccccggtgggtcgctGctcggtgcctgagggcccct	1	7	18	15	4	0	1	0	1	0	0	2	1	0	1	5	6	2	2	5	6	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:140554584G>T	ENST00000231137.3	+	1	2342	c.2168G>T	c.(2167-2169)tGc>tTc	p.C723F	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	723					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGGTCGCTGCTCGGTGCCT	0.667																																																	0													77	125	108					5																	140554584		2203	4300	6503	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2168G>T	5.37:g.140554584G>T	ENSP00000231137:p.Cys723Phe		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C723F	ENST00000231137.3	37	c.2168	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637246	0.47049	.	.	ENSG00000113212	ENST00000231137	T	0.53640	0.61	3.55	3.55	0.40652	.	.	.	.	.	T	0.70824	0.3268	H	0.97491	4.015	0.09310	N	1	P	0.48694	0.914	P	0.48738	0.588	T	0.69694	-0.5076	9	0.62326	D	0.03	.	13.867	0.63594	0.0:0.0:1.0:0.0	.	723	Q9Y5E2	PCDB7_HUMAN	F	723	ENSP00000231137:C723F	ENSP00000231137:C723F	C	+	2	0	PCDHB7	140534768	0.045000	0.20229	0.009000	0.14445	0.683000	0.39861	1.499000	0.35671	1.922000	0.55676	0.449000	0.29647	TGC	PCDHB7	-	NULL	ENSG00000113212		0.667	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0	85	0	G	NM_018940		140554584	1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	21.54	51	14	SNP	0.032	T	T	140554584	G	T	140554584	3	4	37	1	0	0	0	0	1	0	0	0	11586	1319	46	3	2170	3	PCDHB7	5	140554584	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	24007	140554584	40360676	98	8944											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741730	140741730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtattgccagacctcagCgaccgccgggagccctctga	8	6	13	14	3	2	2	1	1	1	1	2	5	2	3	5	2	3	1	5	2	1	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:140741730C>T	ENST00000522605.1	+	1	2028	c.2028C>T	c.(2026-2028)agC>agT	p.S676S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACCTCAGCGACCGCCGGG	0.602																																																	0													54	59	57					5																	140741730		2031	4194	6225	SO:0001819	synonymous_variant	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2028C>T	5.37:g.140741730C>T			Q3MIJ3|Q9UN65	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S676	ENST00000522605.1	37	c.2028	CCDS54924.1	5																																																																																			PCDHGB2	-	NULL	ENSG00000253910		0.602	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1		0	49	0	C	NM_018923		140741730	1			no_errors	ENST00000522605	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.048	T	T	140741730	C	T	140741730	2	4	37	1	0	0	0	0	0	0	0	1	11602	767	27	1		1	PCDHGB2	5	140741730	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	187146	140741730	40173530	99	8945											
TCERG1	10915	genome.wustl.edu	37	chr5	145834808	145834808	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaatgcctcctccaggAgggatacctccacctatggg	8	7	10	16	1	0	0	0	0	0	0	3	2	3	2	8	3	2	0	8	3	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:145834808A>G	ENST00000296702.5	+	2	287	c.249A>G	c.(247-249)ggA>ggG	p.G83G	TCERG1_ENST00000394421.2_Silent_p.G83G	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	83	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTCCAGGAGGGATACCTC	0.507																																																	0													83	85	84					5																	145834808		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.249A>G	5.37:g.145834808A>G			Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.G83	ENST00000296702.5	37	c.249	CCDS4282.1	5																																																																																			TCERG1	-	NULL	ENSG00000113649		0.507	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	-	0	70	0	A	NM_001040006		145834808	1	tier1	-	no_errors	ENST00000296702	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.999	G	G	145834808	A	G	145834808	2	3	37	1	0	0	0	0	0	0	0	1	15732	291	11	4		4	TCERG1	5	145834808	Silent	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	5093078	145834808	35080452	100	8946											
GABRA1	2554	genome.wustl.edu	37	chr5	161317974	161317974	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactttgttattcaaacataCctgccatgcataatgacagt	13	14	5	9	0	1	1	1	1	0	0	1	1	1	1	2	0	5	2	2	0	5	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:161317974C>A	ENST00000428797.2	+	9	1129	c.774C>A	c.(772-774)taC>taA	p.Y258*	GABRA1_ENST00000444819.1_Nonsense_Mutation_p.Y258*|GABRA1_ENST00000437025.2_Nonsense_Mutation_p.Y258*|GABRA1_ENST00000420560.1_Nonsense_Mutation_p.Y258*|GABRA1_ENST00000023897.6_Nonsense_Mutation_p.Y258*|GABRA1_ENST00000393943.4_Nonsense_Mutation_p.Y258*	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	258					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTCAAACATACCTGCCATGCA	0.398																																																	0													140	132	135					5																	161317974		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.774C>A	5.37:g.161317974C>A	ENSP00000393097:p.Tyr258*		D3DQK6|Q8N629	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y258*	ENST00000428797.2	37	c.774	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604747	0.87157	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	.	.	.	5.52	0.696	0.18075	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0249	0.42066	0.0:0.5539:0.0:0.4461	.	.	.	.	X	258	.	ENSP00000023897:Y258X	Y	+	3	2	GABRA1	161250552	0.147000	0.22687	0.998000	0.56505	0.566000	0.35808	-0.402000	0.07223	0.041000	0.15688	-0.145000	0.13849	TAC	GABRA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000022355		0.398	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0	46	0	C	NM_000806.5		161317974	1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	nonsense	28.21	28	11	SNP	0.992	A	A	161317974	C	A	161317974	4	1	37	1	0	0	0	0	0	1	0	0	6184	518	18	3	800	3	GABRA1	5	161317974	Nonsense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	15483166	161317974	19597286	101	8947											
C5orf41	153222	genome.wustl.edu	37	chr5	172550134	172550134	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaagagattgtaaaccgggTacagaatccaagagatgaga	17	6	12	6	1	0	4	0	1	0	4	1	7	1	4	2	1	2	3	2	1	6	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr5:172550134T>C	ENST00000296953.2	+	8	2052	c.1733T>C	c.(1732-1734)gTa>gCa	p.V578A	CREBRF_ENST00000540014.1_Missense_Mutation_p.V580A	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	578	bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTAAACCGGGTACAGAATCCA	0.378																																																	0													96	109	104					5																	172550134		2203	4300	6503	SO:0001583	missense	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1733T>C	5.37:g.172550134T>C	ENSP00000296953:p.Val578Ala		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.V580A	ENST00000296953.2	37	c.1739	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	T	17.70	3.455244	0.63401	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.21191	2.02;2.02	5.3	5.3	0.74995	.	0.183530	0.48286	D	0.000199	T	0.16557	0.0398	N	0.24115	0.695	0.58432	D	0.999996	P	0.39181	0.663	B	0.37731	0.257	T	0.03761	-1.1006	10	0.40728	T	0.16	.	15.1983	0.73112	0.0:0.0:0.0:1.0	.	578	Q8IUR6	CE041_HUMAN	A	578;580;578;578	ENSP00000296953:V578A;ENSP00000440075:V580A	ENSP00000296953:V578A	V	+	2	0	C5orf41	172482740	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.739000	0.68622	2.141000	0.66446	0.533000	0.62120	GTA	CREBRF	-	NULL	ENSG00000164463		0.378	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	-	0	24	0	T	NM_153607		172550134	1	tier1	-	no_errors	ENST00000540014	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	C	C	172550134	T	C	172550134	3	2	37	1	0	0	0	0	1	0	0	0	2307	1638	57	4	1791	4	C5orf41	5	172550134	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	11232160	172550134	8365126	102	8948											
BTN1A1	696	genome.wustl.edu	37	chr6	26506976	26506976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctgatggttctaggaCttctcaccattgggtccata	8	14	8	11	0	3	1	2	1	2	0	6	2	5	2	3	3	0	1	3	3	2	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:26506976C>A	ENST00000244513.6	+	4	841	c.775C>A	c.(775-777)Ctt>Att	p.L259I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	259						extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGTTCTAGGACTTCTCACCAT	0.458																																																	0													198	196	196					6																	26506976		2203	4300	6503	SO:0001583	missense	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.775C>A	6.37:g.26506976C>A	ENSP00000244513:p.Leu259Ile		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.L259I	ENST00000244513.6	37	c.775	CCDS4614.1	6	.	.	.	.	.	.	.	.	.	.	C	6.390	0.440027	0.12104	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.41758	0.99	5.4	1.63	0.23807	.	0.597033	0.15093	N	0.280975	T	0.13457	0.0326	L	0.53249	1.67	0.25343	N	0.988937	P	0.41420	0.749	B	0.39562	0.303	T	0.13818	-1.0495	10	0.22706	T	0.39	.	2.2278	0.03989	0.1583:0.5177:0.1531:0.1708	.	259	Q13410	BT1A1_HUMAN	I	259	ENSP00000244513:L259I	ENSP00000244513:L259I	L	+	1	0	BTN1A1	26614955	0.052000	0.20516	0.971000	0.41717	0.016000	0.09150	-0.885000	0.04161	0.071000	0.16664	0.655000	0.94253	CTT	BTN1A1	-	NULL	ENSG00000124557		0.458	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1	-	0	52	0	C	NM_001732		26506976	1	tier1	-	no_errors	ENST00000244513	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.999	A	A	26506976	C	A	26506976	3	1	37	1	0	0	0	0	1	0	0	0	1563	565	20	3	789	3	BTN1A1	6	26506976	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		26506976	144608091	103	8949											
CDKN1A	1026	genome.wustl.edu	37	chr6	36652260	36652260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgctcaggggagcaggctGaagggtccccaggtggacct	7	6	16	12	1	1	1	1	1	0	0	3	3	2	3	3	6	1	3	3	6	1	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:36652260G>A	ENST00000405375.1	+	2	617	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	CDKN1A_ENST00000373711.2_Missense_Mutation_p.E128K|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.E128K|CDKN1A_ENST00000448526.2_Missense_Mutation_p.E162K	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	128					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GGAGCAGGCTGAAGGGTCCCC	0.612																																																	0													49	50	50					6																	36652260		2203	4300	6503	SO:0001583	missense	0			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.382G>A	6.37:g.36652260G>A	ENSP00000384849:p.Glu128Lys		Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	pfam_CDI	p.E162K	ENST00000405375.1	37	c.484	CCDS4824.1	6	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828158	0.50845	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.23	5.23	0.72850	.	0.108901	0.40818	N	0.001012	T	0.61236	0.2331	L	0.49126	1.545	0.26676	N	0.97163	P;P;P	0.52842	0.956;0.884;0.884	P;B;B	0.53146	0.719;0.358;0.358	T	0.55592	-0.8117	10	0.16420	T	0.52	-22.1044	14.1752	0.65537	0.0:0.0:1.0:0.0	.	162;128;128	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	K	162;128;128;128	ENSP00000409259:E162K;ENSP00000244741:E128K;ENSP00000384849:E128K;ENSP00000362815:E128K	ENSP00000244741:E128K	E	+	1	0	CDKN1A	36760238	0.531000	0.26338	0.216000	0.23742	0.048000	0.14542	1.124000	0.31320	2.724000	0.93272	0.561000	0.74099	GAA	CDKN1A	-	NULL	ENSG00000124762		0.612	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1A	HGNC	protein_coding	OTTHUMT00000040354.1		0	20	0	G	NM_078467		36652260	1			no_errors	ENST00000448526	ensembl	human	known	74_37	missense	22.22	7	2	SNP	0.319	A	A	36652260	G	A	36652260	3	1	37	1	0	0	0	0	1	0	0	0	3165	1291	45	3	384	3	CDKN1A	6	36652260	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	10145284	36652260	134462807	104	8950											
CUL7	9820	genome.wustl.edu	37	chr6	43016152	43016152	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaagggctgcggctgccGctgcagctgcagcaggagtg	7	5	18	11	2	0	0	0	0	0	0	0	2	0	2	1	4	6	7	1	4	1	0	rs199607543		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:43016152G>T	ENST00000265348.3	-	8	2066	c.1981C>A	c.(1981-1983)Cgg>Agg	p.R661R	CUL7_ENST00000535468.1_Silent_p.R745R|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	661					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCGGCTGCCGCTGCAGCTGC	0.597																																																	0																																										SO:0001819	synonymous_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1981C>A	6.37:g.43016152G>T			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R745	ENST00000265348.3	37	c.2233	CCDS4881.1	6																																																																																			CUL7	-	NULL	ENSG00000044090		0.597	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1		0	37	0	G	NM_014780		43016152	-1			no_errors	ENST00000535468	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.076	T	T	43016152	G	T	43016152	2	4	37	1	0	0	0	0	0	0	0	1	4069	1086	38	2		2	CUL7	6	43016152	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	6363892	43016152	128098915	105	8951											
TINAG	27283	genome.wustl.edu	37	chr6	54212285	54212285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaatagtggaagcatcgAtagggcttggtggtacctga	11	10	14	6	1	0	1	0	1	0	0	1	3	0	2	1	4	3	4	1	4	5	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:54212285A>G	ENST00000259782.4	+	6	965	c.869A>G	c.(868-870)gAt>gGt	p.D290G		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	290					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGAAGCATCGATAGGGCTTGG	0.428																																																	0													100	88	92					6																	54212285		2203	4300	6503	SO:0001583	missense	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.869A>G	6.37:g.54212285A>G	ENSP00000259782:p.Asp290Gly		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.D290G	ENST00000259782.4	37	c.869	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	A	26.3	4.728047	0.89390	.	.	ENSG00000137251	ENST00000259782	D	0.84516	-1.86	5.77	5.77	0.91146	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.86372	0.5917	L	0.47190	1.495	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	D	0.86224	0.1633	10	0.39692	T	0.17	.	14.9308	0.70914	1.0:0.0:0.0:0.0	.	290	Q9UJW2	TINAG_HUMAN	G	290	ENSP00000259782:D290G	ENSP00000259782:D290G	D	+	2	0	TINAG	54320244	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	5.601000	0.67606	2.203000	0.70933	0.482000	0.46254	GAT	TINAG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000137251		0.428	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	-	0	67	0	A	NM_014464		54212285	1	tier1	-	no_errors	ENST00000259782	ensembl	human	known	74_37	missense	53.85	24	28	SNP	1.000	G	G	54212285	A	G	54212285	3	3	37	1	0	0	0	0	1	0	0	0	15968	333	12	4	891	4	TINAG	6	54212285	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	11196133	54212285	116902782	106	8952											
BAI3	577	genome.wustl.edu	37	chr6	70070788	70070788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaggatattggtccttgccGagcagccacaataacaggaa	14	8	10	9	1	0	0	0	0	0	0	1	3	1	2	3	3	4	1	3	3	5	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:70070788G>A	ENST00000370598.1	+	29	4444	c.3623G>A	c.(3622-3624)cGa>cAa	p.R1208Q	BAI3_ENST00000238918.8_Missense_Mutation_p.R414Q|BAI3_ENST00000546190.1_Missense_Mutation_p.R172Q	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1208					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1208Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTCCTTGCCGAGCAGCCACA	0.358																																																	1	Substitution - Missense(1)	central_nervous_system(1)											83	86	85					6																	70070788		2203	4299	6502	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3623G>A	6.37:g.70070788G>A	ENSP00000359630:p.Arg1208Gln		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R1208Q	ENST00000370598.1	37	c.3623	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534042	0.85812	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.47177	1.99;2.62;0.85	5.61	5.61	0.85477	.	0.059612	0.64402	D	0.000010	T	0.35711	0.0941	L	0.50333	1.59	0.54753	D	0.99998	D;D	0.58268	0.961;0.982	B;B	0.41571	0.215;0.36	T	0.25363	-1.0134	10	0.44086	T	0.13	.	19.6357	0.95731	0.0:0.0:1.0:0.0	.	414;1208	B7Z356;O60242	.;BAI3_HUMAN	Q	1208;414;172	ENSP00000359630:R1208Q;ENSP00000238918:R414Q;ENSP00000441821:R172Q	ENSP00000238918:R414Q	R	+	2	0	BAI3	70127509	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.476000	0.97823	2.632000	0.89209	0.591000	0.81541	CGA	BAI3	-	NULL	ENSG00000135298		0.358	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0	31	0	G			70070788	1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	70070788	G	A	70070788	3	1	37	1	0	0	0	0	1	0	0	0	1301	1058	37	1	3729	1	BAI3	6	70070788	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	15858503	70070788	101044279	107	8953											
COL19A1	1310	genome.wustl.edu	37	chr6	70916656	70916656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctggaattgggctgccagGgagtccaggtcttcctggga	7	9	15	10	0	1	0	0	0	1	0	3	3	3	3	4	5	1	1	4	5	1	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:70916656G>T	ENST00000322773.4	+	50	3377	c.3275G>T	c.(3274-3276)gGg>gTg	p.G1092V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G714V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1092	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGGCTGCCAGGGAGTCCAGGT	0.458																																																	0													83	80	81					6																	70916656		2203	4300	6503	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3275G>T	6.37:g.70916656G>T	ENSP00000316030:p.Gly1092Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G1092V	ENST00000322773.4	37	c.3275	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845402	0.51164	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99637	-6.29;-6.29	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.99837	0.9926	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96963	0.9703	10	0.87932	D	0	.	18.1731	0.89753	0.0:0.0:1.0:0.0	.	1092	Q14993	COJA1_HUMAN	V	1092;714	ENSP00000316030:G1092V;ENSP00000377013:G714V	ENSP00000316030:G1092V	G	+	2	0	COL19A1	70973377	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.382000	0.73167	2.729000	0.93468	0.467000	0.42956	GGG	COL19A1	-	NULL	ENSG00000082293		0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	68	0	G			70916656	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	16.00	63	12	SNP	1.000	T	T	70916656	G	T	70916656	3	4	37	1	0	0	0	0	1	0	0	0	3683	1232	43	3	3469	3	COL19A1	6	70916656	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	845868	70916656	100198411	108	8954											
COL12A1	1303	genome.wustl.edu	37	chr6	75890711	75890711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagccatcctcatactccGcagtcacattgaccaaatac	13	9	5	14	1	2	2	2	2	0	0	4	2	4	2	4	0	3	1	4	0	4	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:75890711G>A	ENST00000322507.8	-	11	2417	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	COL12A1_ENST00000416123.2_Missense_Mutation_p.A703V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A703V|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	703	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTCATACTCCGCAGTCACATT	0.502																																																	0													124	125	125					6																	75890711		2026	4173	6199	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2108C>T	6.37:g.75890711G>A	ENSP00000325146:p.Ala703Val		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.A703V	ENST00000322507.8	37	c.2108	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913587	0.92178	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.68624	-0.34;-0.34;-0.34	5.98	5.98	0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.82116	0.4967	M	0.88979	2.995	0.58432	D	0.999998	D;D	0.69078	0.997;0.997	P;P	0.60949	0.881;0.871	D	0.84394	0.0556	10	0.87932	D	0	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	703;703	D6RGG3;Q99715	.;COCA1_HUMAN	V	703	ENSP00000325146:A703V;ENSP00000412864:A703V;ENSP00000421216:A703V	ENSP00000325146:A703V	A	-	2	0	COL12A1	75947431	1.000000	0.71417	0.825000	0.32803	0.575000	0.36095	9.294000	0.96088	2.835000	0.97688	0.650000	0.86243	GCG	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.502	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	50	0	G	NM_004370		75890711	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	15.69	43	8	SNP	0.999	A	A	75890711	G	A	75890711	3	1	37	1	0	0	0	0	1	0	0	0	3676	1087	38	1	7307	1	COL12A1	6	75890711	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	4974055	75890711	95224356	109	8955											
C6orf170	221322	genome.wustl.edu	37	chr6	121655552	121655552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgcctgcagcatcgcctGgtcctcgctggagaaatggg	7	8	13	13	3	0	1	0	0	0	1	4	2	1	1	3	3	2	3	3	3	1	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:121655552G>T	ENST00000398212.2	-	1	74	c.25C>A	c.(25-27)Cag>Aag	p.Q9K	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Q9K	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	9					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										agcatcgcctgGTCCTCGCTG	0.582																																																	0													43	45	44					6																	121655552		2015	4180	6195	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.25C>A	6.37:g.121655552G>T	ENSP00000381270:p.Gln9Lys		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	NULL	p.Q9K	ENST00000398212.2	37	c.25	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316524	0.23908	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.41400	2.32;2.32;1.0	5.25	3.46	0.39613	.	.	.	.	.	T	0.16171	0.0389	N	0.22421	0.69	0.23731	N	0.996997	B	0.11235	0.004	B	0.13407	0.009	T	0.33189	-0.9878	9	0.62326	D	0.03	.	15.5419	0.76057	0.0:0.6996:0.3004:0.0	.	9	Q96NH3	BROMI_HUMAN	K	9	ENSP00000275159:Q9K;ENSP00000381270:Q9K;ENSP00000397993:Q9K	ENSP00000275159:Q9K	Q	-	1	0	C6orf170	121697251	1.000000	0.71417	0.111000	0.21465	0.034000	0.12701	3.197000	0.51028	0.761000	0.33130	0.313000	0.20887	CAG	TBC1D32	-	NULL	ENSG00000146350		0.582	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	59	0	G	NM_152730		121655552	-1	tier1	-	no_errors	ENST00000464622	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.999	T	T	121655552	G	T	121655552	3	4	37	1	0	0	0	0	1	0	0	0	2351	1357	47	3	3876	3	C6orf170	6	121655552	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	45764841	121655552	49459515	110	8956											
MYB	4602	genome.wustl.edu	37	chr6	135521339	135521339	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtcccctgaagatgctagTaagttctagaaaagtttttg	11	13	10	7	1	1	3	0	1	1	2	2	3	2	3	2	1	1	4	2	1	6	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:135521339T>C	ENST00000367814.4	+	11	1647		c.e11+2		MYB_ENST00000528774.1_Splice_Site|MYB_ENST00000531845.1_Splice_Site|MYB_ENST00000534044.1_Splice_Site|MYB_ENST00000527615.1_Splice_Site|MYB_ENST00000442647.2_Splice_Site|MYB_ENST00000341911.5_Splice_Site|MYB_ENST00000316528.8_Splice_Site|MYB_ENST00000534121.1_Splice_Site|MYB_ENST00000525369.1_Splice_Site|MYB_ENST00000533624.1_Splice_Site	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AAGATGCTAGTAAGTTCTAGA	0.398			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													80	84	83					6																	135521339		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1461+2T>C	6.37:g.135521339T>C			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Splice_Site	SNP	-	e12+2	ENST00000367814.4	37	c.1824+2	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478732	0.84747	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7153	0.77663	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYB	135563032	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.978000	0.88095	2.127000	0.65507	0.533000	0.62120	.	MYB	-	-	ENSG00000118513		0.398	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0	65	0	T		Intron	135521339	1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	splice_site	9.18	89	9	SNP	1.000	C	C	135521339	T	C	135521339	5	2	37	1	0	0	0	0	0	0	1	0	10045	1652	57	4	1872	4	MYB	6	135521339	Splice_Site	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	13865787	135521339	35593728	111	8957											
SYNE1	23345	genome.wustl.edu	37	chr6	152730801	152730801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctgatttcaggttctGatattctctcattaagtcaa	11	16	6	8	0	5	2	3	2	2	0	6	2	5	2	0	1	2	2	0	1	4	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:152730801G>T	ENST00000367255.5	-	43	6875	c.6274C>A	c.(6274-6276)Cag>Aag	p.Q2092K	RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2099K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2099K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2092K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2129K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2092					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGGTTCTGATATTCTCTC	0.363										HNSCC(10;0.0054)																																							0													95	93	94					6																	152730801		2202	4300	6502	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6274C>A	6.37:g.152730801G>T	ENSP00000356224:p.Gln2092Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q2092K	ENST00000367255.5	37	c.6274	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464499	0.84425	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.92	5.92	0.95590	.	0.000000	0.56097	D	0.000031	T	0.44685	0.1305	M	0.63843	1.955	0.80722	D	1	D;P;P;D	0.69078	0.997;0.835;0.917;0.99	D;B;B;P	0.77004	0.989;0.363;0.445;0.843	T	0.29366	-1.0014	10	0.06236	T	0.91	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	2075;2092;2092;2099	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2092;2099;2092;2099;2129	ENSP00000356224:Q2092K;ENSP00000396024:Q2099K;ENSP00000265368:Q2092K;ENSP00000390975:Q2099K;ENSP00000341887:Q2129K	ENSP00000265368:Q2092K	Q	-	1	0	SYNE1	152772494	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.824000	0.99380	2.822000	0.97130	0.650000	0.86243	CAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	23	0	G	NM_182961		152730801	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	152730801	G	T	152730801	3	4	37	1	0	0	0	0	1	0	0	0	15492	1299	45	3	20608	3	SYNE1	6	152730801	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	17209462	152730801	18384266	112	8958											
CNKSR3	154043	genome.wustl.edu	37	chr6	154727685	154727685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccccggaccagatgccGctcggtcgtgggtctggaga	6	6	15	14	5	1	2	0	0	1	2	3	4	1	3	4	4	1	2	4	4	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:154727685G>A	ENST00000607772.1	-	13	2015	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W	CNKSR3_ENST00000433165.2_Missense_Mutation_p.R316W|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R411W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	491	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		ACCAGATGCCGCTCGGTCGTG	0.582																																																	0													91	87	88					6																	154727685		2203	4300	6503	SO:0001583	missense	0			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"Sterile alpha motif (SAM) domain containing"	23034	protein-coding gene	gene with protein product			"membrane associated guanylate kinase interacting protein-like 1"	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1471C>T	6.37:g.154727685G>A	ENSP00000475915:p.Arg491Trp		Q5SGD5|Q96N65	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.R491W	ENST00000607772.1	37	c.1471	CCDS5246.1	6	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180705	0.78677	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.55234	1.14;0.53;0.54	4.93	-1.21	0.09524	Connector enhancer of kinase suppressor of ras 2 (1);	0.211412	0.40222	N	0.001153	T	0.55768	0.1941	M	0.62723	1.935	0.29466	N	0.857397	D	0.76494	0.999	D	0.68353	0.957	T	0.65660	-0.6114	10	0.87932	D	0	.	17.9622	0.89089	0.0:0.0:0.205:0.795	.	491	Q6P9H4	CNKR3_HUMAN	W	491;316;411	ENSP00000356182:R491W;ENSP00000414185:R316W;ENSP00000418975:R411W	ENSP00000356182:R491W	R	-	1	2	CNKSR3	154769377	0.982000	0.34865	0.945000	0.38365	0.990000	0.78478	0.465000	0.22004	-0.509000	0.06532	0.655000	0.94253	CGG	CNKSR3	-	pfam_CNKSR2	ENSG00000153721		0.582	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	HGNC	protein_coding	OTTHUMT00000042792.2	-	0	52	0	G	NM_173515		154727685	-1	tier1	-	no_errors	ENST00000607772	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.988	A	A	154727685	G	A	154727685	3	1	37	1	0	0	0	0	1	0	0	0	3615	1086	38	1	200	1	CNKSR3	6	154727685	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1996884	154727685	16387382	113	8959											
GTF2H5	404672	genome.wustl.edu	37	chr6	158613034	158613034	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgaagcagtttctgCtgtacttggatgagtccaat	9	13	10	9	0	1	2	0	2	1	0	2	3	2	3	2	1	4	4	2	1	3	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:158613034C>T	ENST00000607778.1	+	3	139	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5	21			L -> P (in TTDP). {ECO:0000269|PubMed:15220921}.		cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		GCAGTTTCTGCTGTACTTGGA	0.408								Nucleotide excision repair (NER)																																									0													141	114	123					6																	158613034		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"General transcription factors", "General transcription factor IIH complex subunits"	21157	protein-coding gene	gene with protein product	"DNA repair syndrome trichothiodystrophy group A"	608780	"chromosome 6 open reading frame 175", "trichothiodystrophy"	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.61C>T	6.37:g.158613034C>T			Q0P5V8	Silent	SNP	pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5	p.L21	ENST00000607778.1	37	c.61	CCDS5256.1	6																																																																																			GTF2H5	-	pfam_TFIIH_TTDA/Tfb5,superfamily_TFIIH_TTDA/Tfb5	ENSG00000272047		0.408	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H5	HGNC	protein_coding	OTTHUMT00000042865.2	-	0	57	0	C	NM_207118		158613034	1	tier1	-	no_errors	ENST00000607778	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	158613034	C	T	158613034	2	4	37	1	0	0	0	0	0	0	0	1	6893	796	28	3		3	GTF2H5	6	158613034	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	3885349	158613034	12502033	114	8960											
MAP3K4	4216	genome.wustl.edu	37	chr6	161510458	161510458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactctgtgccaggagcaGacatccagtcagccggtcat	10	8	11	12	1	3	2	2	1	1	1	4	3	4	3	3	2	3	1	3	2	0	0	rs145004605		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:161510458G>T	ENST00000392142.4	+	11	3076	c.2928G>T	c.(2926-2928)caG>caT	p.Q976H	MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q976H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q976H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q976H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	976					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCCAGGAGCAGACATCCAGTC	0.443																																																	0													140	139	139					6																	161510458		2203	4300	6503	SO:0001583	missense	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2928G>T	6.37:g.161510458G>T	ENSP00000375986:p.Gln976His		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q976H	ENST00000392142.4	37	c.2928	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705294	0.68615	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.74526	-0.85;-0.85;-0.84;-0.85	5.42	3.61	0.41365	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	L	0.60455	1.87	0.48135	D	0.999599	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.996;0.997	T	0.79550	-0.1757	10	0.59425	D	0.04	-32.5254	11.1837	0.48644	0.2057:0.0:0.7943:0.0	.	976;976;976	F5H538;Q9Y6R4-2;Q9Y6R4	.;.;M3K4_HUMAN	H	976	ENSP00000355886:Q976H;ENSP00000375986:Q976H;ENSP00000355887:Q976H;ENSP00000297332:Q976H	ENSP00000297332:Q976H	Q	+	3	2	MAP3K4	161430448	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.043000	0.49823	1.427000	0.47276	0.591000	0.81541	CAG	MAP3K4	-	NULL	ENSG00000085511		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0	28	0	G			161510458	1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	161510458	G	T	161510458	3	4	37	1	0	0	0	0	1	0	0	0	9290	933	33	3	2970	3	MAP3K4	6	161510458	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2897424	161510458	9604609	115	8961											
PACRG	135138	genome.wustl.edu	37	chr6	163510422	163510422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctccctgtcctgaacAtctttaagaatatgaatggt	13	13	6	9	0	1	3	0	2	1	1	4	3	4	3	3	1	1	0	3	1	6	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:163510422A>T	ENST00000337019.3	+	5	819	c.595A>T	c.(595-597)Atc>Ttc	p.I199F	PACRG_ENST00000366888.2_Missense_Mutation_p.I199F|PACRG_ENST00000366889.2_Missense_Mutation_p.I199F	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	199					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TGTCCTGAACATCTTTAAGAA	0.453																																																	0													118	101	107					6																	163510422		2203	4300	6503	SO:0001583	missense	0			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.595A>T	6.37:g.163510422A>T	ENSP00000337946:p.Ile199Phe		E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.I199F	ENST00000337019.3	37	c.595	CCDS5284.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.02|19.02	3.746254|3.746254	0.69418|0.69418	.|.	.|.	ENSG00000112530|ENSG00000112530	ENST00000534958|ENST00000337019;ENST00000366889;ENST00000366888	.|T;T;T	.|0.67698	.|-0.2;-0.28;-0.28	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.114225	.|0.64402	.|D	.|0.000006	T|T	0.76772|0.76772	0.4034|0.4034	M|M	0.77313|0.77313	2.365|2.365	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D	.|0.59357	.|0.794;0.985	.|P;D	.|0.64321	.|0.66;0.924	T|T	0.80795|0.80795	-0.1223|-0.1223	5|10	.|0.72032	.|D	.|0.01	-20.6637|-20.6637	15.6511|15.6511	0.77095|0.77095	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|199;199	.|Q96M98-2;Q96M98	.|.;PACRG_HUMAN	L|F	114|199	.|ENSP00000337946:I199F;ENSP00000355855:I199F;ENSP00000355854:I199F	.|ENSP00000337946:I199F	H|I	+|+	2|1	0|0	PACRG|PACRG	163430412|163430412	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	6.301000|6.301000	0.72782|0.72782	2.101000|2.101000	0.63845|0.63845	0.482000|0.482000	0.46254|0.46254	CAT|ATC	PACRG	-	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	ENSG00000112530		0.453	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	-	0	54	0	A	NM_152410		163510422	1	tier1	-	no_errors	ENST00000337019	ensembl	human	known	74_37	missense	36.21	37	21	SNP	1.000	T	T	163510422	A	T	163510422	3	4	37	1	0	0	0	0	1	0	0	0	11409	217	8	5	609	5	PACRG	6	163510422	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	1999964	163510422	7604645	116	8962											
SMOC2	64094	genome.wustl.edu	37	chr6	169053824	169053824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatactgtgacgtgaataatGacaaatccatctccgtacaa	16	10	6	9	2	1	3	0	3	1	0	3	3	2	3	2	0	2	1	2	0	7	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr6:169053824G>A	ENST00000356284.2	+	11	1421	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	SMOC2_ENST00000354536.5_Missense_Mutation_p.D412N	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	401	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CGTGAATAATGACAAATCCAT	0.463																																																	0													125	117	119					6																	169053824		2203	4300	6503	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.1201G>A	6.37:g.169053824G>A	ENSP00000348630:p.Asp401Asn		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1	p.D412N	ENST00000356284.2	37	c.1234	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240925	0.58995	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793;ENST00000392101;ENST00000538593;ENST00000417208	T;T	0.60672	0.25;0.17	4.92	4.05	0.47172	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.061993	0.64402	N	0.000007	T	0.62122	0.2402	M	0.64170	1.965	0.80722	D	1	P;D	0.89917	0.95;1.0	P;D	0.91635	0.889;0.999	T	0.63001	-0.6734	10	0.38643	T	0.18	0.4753	12.0415	0.53456	0.0833:0.0:0.9167:0.0	.	401;412	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	N	401;412;401;78;78;21	ENSP00000348630:D401N;ENSP00000346537:D412N	ENSP00000346537:D412N	D	+	1	0	SMOC2	168795749	1.000000	0.71417	0.399000	0.26333	0.095000	0.18619	7.233000	0.78125	1.053000	0.40415	0.655000	0.94253	GAC	SMOC2	-	pfam_SPARC/Testican_Ca-bd-dom,pfscan_EF_hand_dom	ENSG00000112562		0.463	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	-	0	95	0	G			169053824	1	tier1	-	no_errors	ENST00000354536	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	A	A	169053824	G	A	169053824	3	1	37	1	0	0	0	0	1	0	0	0	14847	1290	45	3	1276	3	SMOC2	6	169053824	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5543402	169053824	2061243	117	8963											
NPC1L1	29881	genome.wustl.edu	37	chr7	44561742	44561742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggcattcatcccagcctCgctggagaagttgtagccca	9	9	11	12	1	1	1	1	0	0	1	3	3	2	1	3	2	2	4	3	2	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:44561742C>T	ENST00000289547.4	-	11	2792	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	NPC1L1_ENST00000381160.3_Missense_Mutation_p.E913K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.E867K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	913					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATCCCAGCCTCGCTGGAGAAG	0.542																																																	0													86	81	83					7																	44561742		2203	4300	6503	SO:0001583	missense	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2737G>A	7.37:g.44561742C>T	ENSP00000289547:p.Glu913Lys		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.E913K	ENST00000289547.4	37	c.2737	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	.	0.240	-1.014237	0.02095	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.94046	-3.34;-3.34;-3.2	5.2	-2.28	0.06826	.	0.781728	0.12088	N	0.500653	D	0.84092	0.5396	L	0.42744	1.35	0.09310	N	1	B;B;B	0.27765	0.146;0.005;0.188	B;B;B	0.15870	0.011;0.005;0.014	T	0.70450	-0.4868	10	0.07175	T	0.84	-6.3521	4.6129	0.12411	0.2173:0.287:0.0:0.4957	.	867;913;913	B7ZLE6;Q17RV5;D3DVK9	.;.;.	K	913;913;867	ENSP00000289547:E913K;ENSP00000370552:E913K;ENSP00000438033:E867K	ENSP00000289547:E913K	E	-	1	0	NPC1L1	44528267	0.000000	0.05858	0.001000	0.08648	0.308000	0.27856	-0.568000	0.05909	-0.078000	0.12730	-0.215000	0.12644	GAG	NPC1L1	-	NULL	ENSG00000015520		0.542	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	-	0	52	0	C	NM_013389		44561742	-1	tier1	-	no_errors	ENST00000289547	ensembl	human	known	74_37	missense	15.00	68	12	SNP	0.001	T	T	44561742	C	T	44561742	3	4	37	1	0	0	0	0	1	0	0	0	10610	893	31	1	1382	1	NPC1L1	7	44561742	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		44561742	114576921	118	8964											
CHCHD2	51142	genome.wustl.edu	37	chr7	56170694	56170694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgctgtgctggctgggttCcctgaggctcctgcaaaggc	4	10	15	12	0	0	1	0	1	0	0	2	1	2	1	2	4	3	7	2	4	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:56170694C>T	ENST00000395422.3	-	3	473	c.311G>A	c.(310-312)gGa>gAa	p.G104E	snoU13_ENST00000458988.1_RNA	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	104						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGCTGGGTTCCCTGAGGCTC	0.473																																																	0													54	50	51					7																	56170694		2203	4300	6503	SO:0001583	missense	0			AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"Coiled-coil-helix-coiled-coil-helix domain containing"	21645	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 17"	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.311G>A	7.37:g.56170694C>T	ENSP00000378812:p.Gly104Glu		Q498C3|Q6NZ50	Missense_Mutation	SNP	pfam_CHCH	p.G104E	ENST00000395422.3	37	c.311	CCDS5526.1	7	.	.	.	.	.	.	.	.	.	.	C	5.170	0.216874	0.09810	.	.	ENSG00000106153	ENST00000395422	T	0.42131	0.98	5.45	4.57	0.56435	.	0.337859	0.32161	N	0.006486	T	0.29817	0.0745	L	0.45698	1.435	0.36549	D	0.871712	P	0.35124	0.485	B	0.35859	0.212	T	0.23511	-1.0186	10	0.02654	T	1	.	8.1847	0.31333	0.0:0.7438:0.1699:0.0863	.	104	Q9Y6H1	CHCH2_HUMAN	E	104	ENSP00000378812:G104E	ENSP00000378812:G104E	G	-	2	0	CHCHD2	56138188	0.988000	0.35896	0.975000	0.42487	0.144000	0.21451	2.431000	0.44775	1.294000	0.44707	0.557000	0.71058	GGA	CHCHD2	-	NULL	ENSG00000106153		0.473	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD2	HGNC	protein_coding	OTTHUMT00000251589.1	-	0	44	0	C	NM_016139		56170694	-1	tier1	-	no_errors	ENST00000395422	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.943	T	T	56170694	C	T	56170694	3	4	37	1	0	0	0	0	1	0	0	0	3323	855	30	3	152	3	CHCHD2	7	56170694	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	11608952	56170694	102967969	119	8965											
GTF2IRD1	9569	genome.wustl.edu	37	chr7	74016708	74016708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcaatggccaatgtacaTggtggactatgccggcctga	10	9	12	10	1	0	1	0	1	0	0	0	2	0	2	3	4	3	2	3	4	5	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:74016708T>C	ENST00000265755.3	+	27	3221	c.2828T>C	c.(2827-2829)aTg>aCg	p.M943T	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.M960T|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.M928T|GTF2IRD1_ENST00000476977.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	943					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCAATGTACATGGTGGACTAT	0.483																																																	0													142	130	134					7																	74016708		2203	4300	6503	SO:0001583	missense	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2828T>C	7.37:g.74016708T>C	ENSP00000265755:p.Met943Thr		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.M943T	ENST00000265755.3	37	c.2828	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593244	0.46214	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337	T;T;T	0.38560	1.13;1.13;1.14	5.66	5.66	0.87406	.	0.292083	0.36628	N	0.002486	T	0.56217	0.1970	L	0.48642	1.525	0.80722	D	1	D;D;D	0.60160	0.973;0.987;0.984	P;D;D	0.66716	0.885;0.942;0.946	T	0.53760	-0.8393	10	0.40728	T	0.16	-27.5613	15.0547	0.71904	0.0:0.0:0.0:1.0	.	960;943;928	Q6DSU6;Q9UHL9;Q9UHL9-2	.;GT2D1_HUMAN;.	T	943;960;928	ENSP00000265755:M943T;ENSP00000397566:M960T;ENSP00000408477:M928T	ENSP00000265755:M943T	M	+	2	0	GTF2IRD1	73654644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.255000	0.65462	2.149000	0.67028	0.459000	0.35465	ATG	GTF2IRD1	-	NULL	ENSG00000006704		0.483	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	-	0	76	0	T	NM_016328		74016708	1	tier1	-	no_errors	ENST00000265755	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	74016708	T	C	74016708	3	2	37	1	0	0	0	0	1	0	0	0	6895	1464	51	4	2930	4	GTF2IRD1	7	74016708	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	17846014	74016708	85121955	120	8966											
FGL2	10875	genome.wustl.edu	37	chr7	76825667	76825667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgtagccaccagggtGtgcctcacttacaccaggcc	8	8	11	14	0	1	0	1	0	0	0	1	1	1	1	5	3	3	1	5	3	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:76825667G>T	ENST00000248598.5	-	2	1281	c.1249C>A	c.(1249-1251)Cac>Aac	p.H417N	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	417	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCACCAGGGTGTGCCTCACTT	0.443																																																	0													75	66	69					7																	76825667		2203	4300	6503	SO:0001583	missense	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.1249C>A	7.37:g.76825667G>T	ENSP00000248598:p.His417Asn			Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.H417N	ENST00000248598.5	37	c.1249	CCDS5591.1	7	.	.	.	.	.	.	.	.	.	.	G	11.29	1.595853	0.28445	.	.	ENSG00000127951	ENST00000248598	T	0.57107	0.42	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.469797	0.27176	N	0.020572	T	0.48466	0.1501	L	0.50333	1.59	0.35555	D	0.804223	B	0.02656	0.0	B	0.09377	0.004	T	0.51228	-0.8732	10	0.37606	T	0.19	.	14.9639	0.71176	0.0:0.0:0.8232:0.1768	.	417	Q14314	FGL2_HUMAN	N	417	ENSP00000248598:H417N	ENSP00000248598:H417N	H	-	1	0	FGL2	76663603	1.000000	0.71417	0.862000	0.33874	0.996000	0.88848	3.764000	0.55264	2.941000	0.99782	0.655000	0.94253	CAC	FGL2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000127951		0.443	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	HGNC	protein_coding	OTTHUMT00000253176.1	-	0	53	0	G	NM_006682		76825667	-1	tier1	-	no_errors	ENST00000248598	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.975	T	T	76825667	G	T	76825667	3	4	37	1	0	0	0	0	1	0	0	0	5895	1377	48	3	74	3	FGL2	7	76825667	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2808959	76825667	82312996	121	8967											
SAMD9L	219285	genome.wustl.edu	37	chr7	92762448	92762448	+	Frame_Shift_Del	DEL	A	A	-																															tactagtgtatatgattcccAaaaatatttcacactgtgaa																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:92762448delA	ENST00000318238.4	-	5	4053	c.2837delT	c.(2836-2838)ttgfs	p.L946fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.L946fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.L946fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	946					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TATGATTCCCAAAAATATTTC	0.373																																																	0													83	80	81					7																	92762448		2203	4299	6502	SO:0001589	frameshift_variant	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2837delT	7.37:g.92762448delA	ENSP00000326247:p.Leu946fs		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.L946fs	ENST00000318238.4	37	c.2837	CCDS34681.1	7																																																																																			SAMD9L	-	NULL	ENSG00000177409		0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1		0	15	0	A	NM_152703		92762448	-1	tier1		no_errors	ENST00000318238	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.997	-	-	92762448	A	-	92762448	7	5	37	1	0	1	0	1	0	0	0	0	13872	131	5	0	1921	0	SAMD9L	7	92762448	Frame_Shift_Del	DEL	A	TCGA-JY-A6FD-01A-11D-A33E-09	15936781	92762448	66376215	122	8968											
FAM180A	389558	genome.wustl.edu	37	chr7	135421860	135421860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacctcgtagagcagcTccacctcctccagggaggtc	7	8	10	16	1	0	1	0	0	0	1	5	2	3	2	6	2	4	3	6	2	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:135421860T>A	ENST00000338588.3	-	2	429	c.164A>T	c.(163-165)gAg>gTg	p.E55V	FAM180A_ENST00000415751.1_Missense_Mutation_p.E55V|FAM180A_ENST00000435869.1_5'UTR	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	55						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GTAGAGCAGCTCCACCTCCTC	0.532																																																	0													76	63	67					7																	135421860		2203	4300	6503	SO:0001583	missense	0			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.164A>T	7.37:g.135421860T>A	ENSP00000342336:p.Glu55Val		B2RP85	Missense_Mutation	SNP	NULL	p.E55V	ENST00000338588.3	37	c.164	CCDS5841.1	7	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457655	0.63401	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.33216	1.42;1.42	5.15	5.15	0.70609	.	0.281816	0.39985	N	0.001214	T	0.37919	0.1021	L	0.35723	1.085	0.45554	D	0.998505	D	0.55385	0.971	P	0.55455	0.776	T	0.08806	-1.0704	10	0.42905	T	0.14	-19.5371	13.2242	0.59905	0.0:0.0:0.0:1.0	.	55	Q6UWF9	F180A_HUMAN	V	55	ENSP00000342336:E55V;ENSP00000395467:E55V	ENSP00000342336:E55V	E	-	2	0	FAM180A	135072400	0.796000	0.28864	0.997000	0.53966	0.968000	0.65278	4.467000	0.60155	2.082000	0.62665	0.454000	0.30748	GAG	FAM180A	-	NULL	ENSG00000189320		0.532	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM180A	HGNC	protein_coding	OTTHUMT00000340554.2		0	43	0	T	NM_205855		135421860	-1			no_errors	ENST00000338588	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.998	A	A	135421860	T	A	135421860	3	1	37	1	0	0	0	0	1	0	0	0	5526	1551	54	5	365	5	FAM180A	7	135421860	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	42659412	135421860	23716803	123	8969											
ZNF212	7988	genome.wustl.edu	37	chr7	148947553	148947553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgggctactgcagaggCggctggagaacgtggagaac	11	6	17	7	2	0	3	0	0	0	3	0	5	0	3	0	5	4	4	0	5	4	2	rs545726599		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:148947553C>T	ENST00000335870.2	+	2	456	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ACTGCAGAGGCGGCTGGAGAA	0.647													C|||	1	0.000199681	0	0	5008	,	,		16441	0		0	False		,,,				2504	0.001																0													77	91	86					7																	148947553		2203	4300	6503	SO:0001583	missense	0			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"Zinc fingers, C2H2-type", "-"	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.328C>T	7.37:g.148947553C>T	ENSP00000338572:p.Arg110Trp		B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R110W	ENST00000335870.2	37	c.328	CCDS5896.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.256550|3.256550	0.59321|0.59321	.|.	.|.	ENSG00000170260|ENSG00000170260	ENST00000481584|ENST00000335870	.|T	.|0.80909	.|-1.43	5.95|5.95	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.49305	.|D	.|0.000143	T|T	0.77691|0.77691	0.4168|0.4168	M|M	0.76328|0.76328	2.33|2.33	0.37636|0.37636	D|D	0.921846|0.921846	.|P	.|0.35959	.|0.53	.|B	.|0.32465	.|0.146	T|T	0.81493|0.81493	-0.0908|-0.0908	5|10	.|0.56958	.|D	.|0.05	-32.6889|-32.6889	10.6601|10.6601	0.45698|0.45698	0.2344:0.7656:0.0:0.0|0.2344:0.7656:0.0:0.0	.|.	.|110	.|Q9UDV6	.|ZN212_HUMAN	V|W	7|110	.|ENSP00000338572:R110W	.|ENSP00000338572:R110W	A|R	+|+	2|1	0|2	ZNF212|ZNF212	148578486|148578486	0.993000|0.993000	0.37304|0.37304	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.177000|0.177000	0.16801|0.16801	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GCG|CGG	ZNF212	-	pfam_DUF3669_Znf	ENSG00000170260		0.647	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF212	HGNC	protein_coding	OTTHUMT00000352710.1	-	0	88	0	C	NM_012256		148947553	1	tier1	-	no_errors	ENST00000335870	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	148947553	C	T	148947553	3	4	37	1	0	0	0	0	1	0	0	0	17816	759	27	1	334	1	ZNF212	7	148947553	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	13525693	148947553	10191110	124	8970											
KCNH2	3757	genome.wustl.edu	37	chr7	150642567	150642567	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaagctctggggccccCgggggcagctcctcacacgc	5	5	16	15	2	2	0	1	0	1	0	3	1	3	1	3	6	2	3	3	6	1	0	rs371473271	byFrequency	TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:150642567C>T	ENST00000262186.5	-	15	3767	c.3366G>A	c.(3364-3366)ccG>ccA	p.P1122P	KCNH2_ENST00000392968.2_Silent_p.P1026P|KCNH2_ENST00000330883.4_Silent_p.P782P	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1122					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTGGGGCCCCCGGGGGCAGCT	0.672													c|||	2	0.000399361	0.0015	0	5008	,	,		16834	0		0	False		,,,				2504	0				GBM(137;110 1844 13671 20123 45161)												0			GRCh37	CI043726	KCNH2	I		T	,	2,4314		0,2,2156	9	10	10		3366,2346	-9.2	0.1	7		10	0,8478		0,0,4239	no	coding-synonymous,coding-synonymous	KCNH2	NM_000238.3,NM_172057.2	,	0,2,6395	TT,TC,CC		0.0,0.0463,0.0156	,	1122/1160,782/820	150642567	2,12792	2158	4239	6397	SO:0001819	synonymous_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3366G>A	7.37:g.150642567C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.P1122	ENST00000262186.5	37	c.3366	CCDS5910.1	7																																																																																			KCNH2	-	NULL	ENSG00000055118		0.672	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0	55	0	C	NM_000238		150642567	-1	tier1	-	no_errors	ENST00000262186	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.020	T	T	150642567	C	T	150642567	2	4	37	1	0	0	0	0	0	0	0	1	8059	639	23	1		1	KCNH2	7	150642567	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1695014	150642567	8496096	125	8971											
ABCF2	10061	genome.wustl.edu	37	chr7	150912711	150912711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtttcccagtgagaccGtatcgcccaatgatcttcct	7	14	8	12	2	1	2	0	2	1	1	4	3	3	2	4	0	0	3	4	0	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:150912711G>A	ENST00000287844.2	-	13	1618	c.1509C>T	c.(1507-1509)taC>taT	p.Y503Y	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Silent_p.Y503Y	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	503	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.Y503*(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTGAGACCGTATCGCCCAA	0.517																																																	1	Substitution - Nonsense(1)	ovary(1)											320	280	294					7																	150912711		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1509C>T	7.37:g.150912711G>A			O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y503	ENST00000287844.2	37	c.1509	CCDS5923.1	7																																																																																			ABCF2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000033050		0.517	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1		0	54	0	G	NM_005692		150912711	-1			no_errors	ENST00000222388	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.180	A	A	150912711	G	A	150912711	2	1	37	1	0	0	0	0	0	0	0	1	66	1140	40	1		1	ABCF2	7	150912711	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	270144	150912711	8225952	126	8972											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760285	154760285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgctgctgctgctgctgCtggtgcatgcgctggagctg	3	12	15	11	1	1	0	0	0	1	0	1	1	1	1	0	2	9	9	0	2	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:154760285C>G	ENST00000404141.1	-	7	1780	c.1626G>C	c.(1624-1626)caG>caC	p.Q542H	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q542H			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	542	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.Q508H(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		gctgctgctgctggtgcatgc	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)											13	13	13					7																	154760285		1934	3626	5560	SO:0001583	missense	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1626G>C	7.37:g.154760285C>G	ENSP00000384048:p.Gln542His		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q542H	ENST00000404141.1	37	c.1626	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548436	0.27652	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	T;T	0.48201	0.82;0.82	4.96	-3.3	0.05003	.	0.298320	0.23000	N	0.053095	T	0.26593	0.0650	N	0.19112	0.55	0.25352	N	0.988853	B;B;B;B	0.14012	0.001;0.009;0.002;0.001	B;B;B;B	0.12156	0.003;0.007;0.007;0.003	T	0.11991	-1.0565	10	0.45353	T	0.12	-3.9012	9.2332	0.37450	0.0:0.4209:0.4486:0.1305	.	495;451;508;542	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	H	542;542;495	ENSP00000384048:Q542H;ENSP00000380376:Q542H	ENSP00000319149:Q495H	Q	-	3	2	PAXIP1	154391218	0.712000	0.27916	0.413000	0.26509	0.911000	0.54048	0.051000	0.14141	-0.530000	0.06349	-0.357000	0.07601	CAG	PAXIP1	-	NULL	ENSG00000157212		0.627	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0	22	0	C	NM_007349		154760285	-1			no_errors	ENST00000397192	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.930	G	G	154760285	C	G	154760285	3	3	37	1	0	0	0	0	1	0	0	0	11526	796	28	5	1643	5	PAXIP1	7	154760285	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	3847574	154760285	4378378	127	8973											
ESYT2	57488	genome.wustl.edu	37	chr7	158527118	158527118	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcagggacactcaccactgGgtccagcctttggcaagttc	9	8	11	13	0	1	0	1	0	0	0	3	1	2	1	3	3	2	3	3	3	1	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr7:158527118G>T	ENST00000251527.5	-	21	2696	c.2631C>A	c.(2629-2631)acC>acA	p.T877T	ESYT2_ENST00000435514.2_Silent_p.T312T	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	905	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTCACCACTGGGTCCAGCCTT	0.557																																																	0													78	73	75					7																	158527118		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2631C>A	7.37:g.158527118G>T			A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T877	ENST00000251527.5	37	c.2631	CCDS34791.1	7																																																																																			ESYT2	-	superfamily_C2_dom,smart_C2_dom	ENSG00000117868		0.557	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	-	0	73	0	G	NM_020728		158527118	-1	tier1	-	no_errors	ENST00000251527	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	158527118	G	T	158527118	2	4	37	1	0	0	0	0	0	0	0	1	5281	1219	43	3		3	ESYT2	7	158527118	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3766833	158527118	611545	128	8974											
CSMD1	64478	genome.wustl.edu	37	chr8	2954438	2954438	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacaaagatggtaatgttGtagtttggttccactttaat	11	16	8	6	0	0	1	0	0	0	1	2	1	2	1	2	2	0	5	2	2	4	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:2954438G>T	ENST00000520002.1	-	48	7629	c.7074C>A	c.(7072-7074)taC>taA	p.Y2358*	CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y2358*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y2358*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y2357*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y2358*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y2357*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2358	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGTAATGTTGTAGTTTGGTT	0.413																																																	0													86	79	81					8																	2954438		1864	4089	5953	SO:0001587	stop_gained	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7074C>A	8.37:g.2954438G>T	ENSP00000430733:p.Tyr2358*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Y2358*	ENST00000520002.1	37	c.7074		8	.	.	.	.	.	.	.	.	.	.	G	45	11.899153	0.99615	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.	.	.	5.25	-10.5	0.00291	.	0.091999	0.45606	U	0.000352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	21.8927	0.99963	0.2264:0.0:0.7736:0.0	.	.	.	.	X	2358;2358;2219;2357;2357	.	ENSP00000320445:Y2219X	Y	-	3	2	CSMD1	2941845	1.000000	0.71417	0.014000	0.15608	0.237000	0.25408	0.604000	0.24164	-2.003000	0.00962	-1.223000	0.01593	TAC	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	53	0	G	NM_033225		2954438	-1			no_errors	ENST00000520002	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	0.950	T	T	2954438	G	T	2954438	4	4	37	1	0	0	0	0	0	1	0	0	3953	1372	48	3	3719	3	CSMD1	8	2954438	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		2954438	143409584	129	8975											
ZNF395	55893	genome.wustl.edu	37	chr8	28206730	28206730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctcgctgaagcttaGcgaccggctccggacctggg	5	7	16	13	4	0	1	0	1	0	0	2	3	1	2	3	5	2	4	3	5	2	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:28206730G>T	ENST00000344423.5	-	9	1473	c.1342C>A	c.(1342-1344)Cta>Ata	p.L448I	ZNF395_ENST00000523095.1_Missense_Mutation_p.L448I|ZNF395_ENST00000523202.1_Missense_Mutation_p.L448I	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	448					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CTGAAGCTTAGCGACCGGCTC	0.622																																																	0													69	73	72					8																	28206730		2203	4300	6503	SO:0001583	missense	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1342C>A	8.37:g.28206730G>T	ENSP00000340494:p.Leu448Ile		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.L448I	ENST00000344423.5	37	c.1342	CCDS6067.1	8	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182357	0.78677	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.46451	0.87;0.87;0.87	5.5	5.5	0.81552	.	0.418082	0.24169	N	0.040914	T	0.38401	0.1039	L	0.39898	1.24	0.80722	D	1	P	0.46656	0.882	B	0.43445	0.42	T	0.08432	-1.0722	10	0.30078	T	0.28	-17.5884	14.8936	0.70627	0.0:0.0:1.0:0.0	.	448	Q9H8N7	ZN395_HUMAN	I	448	ENSP00000340494:L448I;ENSP00000429640:L448I;ENSP00000428452:L448I	ENSP00000340494:L448I	L	-	1	2	ZNF395	28262649	0.979000	0.34478	0.831000	0.32960	0.882000	0.50991	2.645000	0.46621	2.596000	0.87737	0.561000	0.74099	CTA	ZNF395	-	NULL	ENSG00000186918		0.622	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1	-	0	49	0	G			28206730	-1	tier1	-	no_errors	ENST00000344423	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.959	T	T	28206730	G	T	28206730	3	4	37	1	0	0	0	0	1	0	0	0	17929	962	34	3	207	3	ZNF395	8	28206730	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	25252292	28206730	118157292	130	8976											
KCNU1	157855	genome.wustl.edu	37	chr8	36671820	36671820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggcaacaacgtcaacCgttggatttggagatgtggt	10	11	13	7	2	2	1	2	0	0	1	2	3	2	2	1	4	3	2	1	4	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:36671820C>T	ENST00000399881.3	+	8	865	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	276					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAACGTCAACCGTTGGATTTG	0.398																																																	0													66	65	65					8																	36671820		1881	4101	5982	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.828C>T	8.37:g.36671820C>T				Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.T276	ENST00000399881.3	37	c.828	CCDS55220.1	8																																																																																			KCNU1	-	pfam_2pore_dom_K_chnl_dom	ENSG00000215262		0.398	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	74	0	C	NM_001031836		36671820	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	silent	6.41	73	5	SNP	0.972	T	T	36671820	C	T	36671820	2	4	37	1	0	0	0	0	0	0	0	1	8120	639	23	1		1	KCNU1	8	36671820	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	8465090	36671820	109692202	131	8977											
CYP7B1	9420	genome.wustl.edu	37	chr8	65536985	65536985	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaactgtgaaagtgtcAccatgttgcttttgaagtgt	12	13	11	5	0	1	4	1	2	0	2	1	4	1	4	1	0	2	2	1	0	4	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:65536985A>T	ENST00000310193.3	-	2	407	c.234T>A	c.(232-234)ggT>ggA	p.G78G		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	78					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGAAAGTGTCACCATGTTGCT	0.363																																																	0													143	138	140					8																	65536985		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.234T>A	8.37:g.65536985A>T			B2RN07|Q9UNF5	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.G78	ENST00000310193.3	37	c.234	CCDS6180.1	8																																																																																			CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000172817		0.363	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	-	0	64	0	A			65536985	-1	tier1	-	no_errors	ENST00000310193	ensembl	human	known	74_37	silent	13.85	56	9	SNP	0.998	T	T	65536985	A	T	65536985	2	4	37	1	0	0	0	0	0	0	0	1	4206	146	6	5		5	CYP7B1	8	65536985	Silent	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	28865165	65536985	80827037	132	8978											
NCOA2	10499	genome.wustl.edu	37	chr8	71126198	71126198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagattgcacatttgtcagGtttgaagttaaagttgtcta	12	16	9	4	0	2	2	1	1	1	1	2	2	2	2	0	1	1	4	0	1	5	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:71126198G>T	ENST00000452400.2	-	4	380	c.199C>A	c.(199-201)Cct>Act	p.P67T		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	67	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATTTGTCAGGTTTGAAGTTA	0.308			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													99	86	90					8																	71126198		1788	4071	5859	SO:0001583	missense	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.199C>A	8.37:g.71126198G>T	ENSP00000399968:p.Pro67Thr		Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.P67T	ENST00000452400.2	37	c.199	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476179	0.84640	.	.	ENSG00000140396	ENST00000452400	T	0.01981	4.52	5.53	5.53	0.82687	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	T	0.12220	0.0297	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00187	-1.1941	10	0.66056	D	0.02	.	19.466	0.94939	0.0:0.0:1.0:0.0	.	67	Q15596	NCOA2_HUMAN	T	67	ENSP00000399968:P67T	ENSP00000399968:P67T	P	-	1	0	NCOA2	71288752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.607000	0.88179	0.655000	0.94253	CCT	NCOA2	-	superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom	ENSG00000140396		0.308	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	-	0	67	0	G			71126198	-1	tier1	-	no_errors	ENST00000452400	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	T	T	71126198	G	T	71126198	3	4	37	1	0	0	0	0	1	0	0	0	10268	1261	44	3	4275	3	NCOA2	8	71126198	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5589213	71126198	75237824	133	8979											
CALB1	793	genome.wustl.edu	37	chr8	91078168	91078168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattttgtgtcatcaacagtCttgtttgctttttctagcag	8	19	7	7	0	4	0	2	0	2	0	4	0	4	0	0	0	3	3	0	0	3	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:91078168C>T	ENST00000265431.3	-	6	589	c.408G>A	c.(406-408)aaG>aaA	p.K136K	CALB1_ENST00000518457.1_Silent_p.K79K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	136					cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CATCAACAGTCTTGTTTGCTT	0.323																																					Melanoma(46;573 1182 27367 39727 48386)												0													126	112	117					8																	91078168		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"EF-hand domain containing"	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.408G>A	8.37:g.91078168C>T			B2R696|B7Z9J4	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.K136	ENST00000265431.3	37	c.408	CCDS6251.1	8																																																																																			CALB1	-	NULL	ENSG00000104327		0.323	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2	-	0	50	0	C	NM_004929		91078168	-1	tier1	-	no_errors	ENST00000265431	ensembl	human	known	74_37	silent	22.95	47	14	SNP	0.995	T	T	91078168	C	T	91078168	2	4	37	1	0	0	0	0	0	0	0	1	2580	912	32	3		3	CALB1	8	91078168	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	19951970	91078168	55285854	134	8980											
BAALC	79870	genome.wustl.edu	37	chr8	104153150	104153150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcggcgggagccgggcgGatgccatcgagccccgctac	5	4	17	15	6	0	0	0	0	0	0	1	3	0	2	4	4	5	2	4	4	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:104153150G>A	ENST00000297574.6	+	1	164	c.25G>A	c.(25-27)Gat>Aat	p.D9N	BAALC_ENST00000309982.5_Missense_Mutation_p.D9N|C8orf56_ENST00000436771.1_Intron|BAALC_ENST00000330955.5_Missense_Mutation_p.D9N|BAALC_ENST00000306391.6_Missense_Mutation_p.D9N|BAALC_ENST00000438105.2_Missense_Mutation_p.D9N|C8orf56_ENST00000521246.1_Intron			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	9	Interaction with CAMK2A. {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GAGCCGGGCGGATGCCATCGA	0.761																																																	0													6	8	7					8																	104153150		1989	3960	5949	SO:0001583	missense	0			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.25G>A	8.37:g.104153150G>A	ENSP00000297574:p.Asp9Asn		Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	pfam_BAALC	p.D9N	ENST00000297574.6	37	c.25		8	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017043	0.93404	.	.	ENSG00000164929	ENST00000309982;ENST00000438105;ENST00000297574;ENST00000306391;ENST00000330955	T;T	0.58652	0.34;0.32	4.35	2.51	0.30379	.	0.178247	0.47852	D	0.000209	T	0.47544	0.1451	.	.	.	0.39738	D	0.971716	B	0.19073	0.033	B	0.19946	0.027	T	0.46624	-0.9178	9	0.87932	D	0	-15.5508	9.4779	0.38882	0.08:0.1436:0.7764:0.0	.	9	Q8WXS3-2	.	N	9	ENSP00000312457:D9N;ENSP00000297574:D9N	ENSP00000297574:D9N	D	+	1	0	BAALC	104222326	1.000000	0.71417	0.681000	0.30009	0.987000	0.75469	6.444000	0.73452	0.443000	0.26582	0.561000	0.74099	GAT	BAALC	-	pfam_BAALC	ENSG00000164929		0.761	BAALC-003	KNOWN	basic	protein_coding	BAALC	HGNC	protein_coding	OTTHUMT00000380257.1		0	11	0	G			104153150	1			no_errors	ENST00000297574	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.995	A	A	104153150	G	A	104153150	3	1	37	1	0	0	0	0	1	0	0	0	1280	1174	41	3	27	3	BAALC	8	104153150	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	13074982	104153150	42210872	135	8981											
SPATC1	375686	genome.wustl.edu	37	chr8	145095594	145095594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacacctgctcccaagacgGccttctccttcaacacttcg	8	9	6	18	2	2	1	1	0	1	1	5	1	3	1	4	1	2	2	4	1	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr8:145095594G>A	ENST00000377470.3	+	3	994	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	SPATC1_ENST00000447830.2_Missense_Mutation_p.A298T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	298						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCAAGACGGCCTTCTCCTT	0.652																																																	0													220	104	143					8																	145095594		2203	4300	6503	SO:0001583	missense	0			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.892G>A	8.37:g.145095594G>A	ENSP00000366690:p.Ala298Thr		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	NULL	p.A298T	ENST00000377470.3	37	c.892	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723276	0.30503	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.48836	0.8	4.33	3.43	0.39272	.	0.204155	0.24580	N	0.037312	T	0.39759	0.1090	L	0.33485	1.01	0.09310	N	1	P;P	0.50156	0.932;0.884	P;B	0.50352	0.638;0.219	T	0.15037	-1.0451	10	0.14252	T	0.57	.	7.6507	0.28346	0.1251:0.0:0.8749:0.0	.	298;298	B4DWW9;Q76KD6	.;SPERI_HUMAN	T	298	ENSP00000366690:A298T	ENSP00000366690:A298T	A	+	1	0	SPATC1	145167582	0.038000	0.19896	0.040000	0.18447	0.031000	0.12232	0.722000	0.25925	0.908000	0.36671	0.558000	0.71614	GCC	SPATC1	-	NULL	ENSG00000186583		0.652	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1		0	68	0	G	NM_198572		145095594	1			no_errors	ENST00000377470	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.037	A	A	145095594	G	A	145095594	3	1	37	1	0	0	0	0	1	0	0	0	15064	1203	42	3	902	3	SPATC1	8	145095594	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	40942444	145095594	1268428	136	8982											
ERMP1	79956	genome.wustl.edu	37	chr9	5787517	5787517	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcctttacttgtgactggGgtgccattgccaagagacca	8	11	10	12	0	0	2	0	1	0	1	1	3	1	2	5	2	3	0	5	2	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:5787517G>T	ENST00000339450.5	-	14	2552	c.2463C>A	c.(2461-2463)acC>acA	p.T821T	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.P416T|ERMP1_ENST00000381506.3_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	821						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TTGTGACTGGGGTGCCATTGC	0.483																																																	0													177	167	171					9																	5787517		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"Felix-ina"	611156	"KIAA1815"	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2463C>A	9.37:g.5787517G>T			B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.P838T	ENST00000339450.5	37	c.2512	CCDS34983.1	9	.	.	.	.	.	.	.	.	.	.	G	2.923	-0.222675	0.06061	.	.	ENSG00000099219	ENST00000543230	.	.	.	5.9	0.183	0.15082	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27088	-1.0084	4	.	.	.	-12.134	4.3857	0.11316	0.3803:0.0:0.2962:0.3235	.	.	.	.	T	416	.	.	P	-	1	0	ERMP1	5777517	0.840000	0.29493	0.992000	0.48379	0.008000	0.06430	-0.171000	0.09883	0.092000	0.17331	-0.157000	0.13467	CCC	ERMP1	-	NULL	ENSG00000099219		0.483	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMP1	HGNC	protein_coding	OTTHUMT00000354877.1		0	60	0	G	NM_024896		5787517	-1			no_errors	ENST00000489219	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.964	T	T	5787517	G	T	5787517	2	4	37	1	0	0	0	0	0	0	0	1	5252	1219	43	3		3	ERMP1	9	5787517	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		5787517	135425914	137	8983											
AGTPBP1	23287	genome.wustl.edu	37	chr9	88257808	88257808	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcttctattgttcgtccCggttcttgctggggttttag	4	18	11	8	2	3	1	0	0	3	1	5	1	4	1	1	3	1	4	1	3	2	8			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:88257808C>A	ENST00000357081.3	-	13	1380	c.1236G>T	c.(1234-1236)ccG>ccT	p.P412P	AGTPBP1_ENST00000432218.1_Silent_p.P250P|AGTPBP1_ENST00000376083.3_Silent_p.P372P|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Silent_p.P424P			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	412					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.P372P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTGTTCGTCCCGGTTCTTGCT	0.294																																																	1	Substitution - coding silent(1)	lung(1)											126	135	132					9																	88257808		2203	4298	6501	SO:0001819	synonymous_variant	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1236G>T	9.37:g.88257808C>A			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.P424	ENST00000357081.3	37	c.1272		9																																																																																			AGTPBP1	-	NULL	ENSG00000135049		0.294	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	-	0	63	0	C	NM_015239		88257808	-1	tier1	-	no_errors	ENST00000376109	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.998	A	A	88257808	C	A	88257808	2	1	37	1	0	0	0	0	0	0	0	1	400	639	23	2		2	AGTPBP1	9	88257808	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	82470291	88257808	52955623	138	8984											
HEMGN	55363	genome.wustl.edu	37	chr9	100692387	100692387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccttggggcccaccTgtttcttggtgtggttctgg	1	15	14	11	0	2	0	0	0	2	0	3	0	3	0	4	6	0	2	4	6	0	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:100692387T>C	ENST00000259456.3	-	4	1433	c.1290A>G	c.(1288-1290)acA>acG	p.T430T		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	430					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGGGCCCACCTGTTTCTTGGT	0.448																																																	0													255	237	243					9																	100692387		2203	4300	6503	SO:0001819	synonymous_variant	0			AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.1290A>G	9.37:g.100692387T>C			Q6XAR3|Q86XY5|Q9NPC0	Silent	SNP	NULL	p.T430	ENST00000259456.3	37	c.1290	CCDS6731.1	9																																																																																			HEMGN	-	NULL	ENSG00000136929		0.448	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEMGN	HGNC	protein_coding	OTTHUMT00000053344.2	-	0	48	0	T	NM_197978		100692387	-1	tier1	-	no_errors	ENST00000259456	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.869	C	C	100692387	T	C	100692387	2	2	37	1	0	0	0	0	0	0	0	1	7077	1567	55	4		4	HEMGN	9	100692387	Silent	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	12434579	100692387	40521044	139	8985											
DFNB31	25861	genome.wustl.edu	37	chr9	117240860	117240860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcccctccttgcaggagGtgcagggtgctcctccggtc	4	10	12	15	1	1	0	1	0	0	0	6	1	5	1	5	4	3	3	5	4	0	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:117240860G>T	ENST00000362057.3	-	2	978	c.810C>A	c.(808-810)caC>caA	p.H270Q	DFNB31_ENST00000374057.3_Missense_Mutation_p.H270Q|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	270					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTGCAGGAGGTGCAGGGTGC	0.662																																																	0													49	48	48					9																	117240860		2203	4300	6503	SO:0001583	missense	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.810C>A	9.37:g.117240860G>T	ENSP00000354623:p.His270Gln		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H270Q	ENST00000362057.3	37	c.810	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	9.530	1.110591	0.20714	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.16597	2.33;2.37	5.42	2.43	0.29744	PDZ/DHR/GLGF (1);	0.680111	0.16082	N	0.230464	T	0.05960	0.0155	N	0.03281	-0.365	0.25668	N	0.985927	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.0	T	0.37126	-0.9719	10	0.21014	T	0.42	-8.7431	4.1227	0.10112	0.0972:0.3869:0.4008:0.1151	.	270;270;270	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	Q	270	ENSP00000354623:H270Q;ENSP00000363170:H270Q	ENSP00000354623:H270Q	H	-	3	2	DFNB31	116280681	1.000000	0.71417	0.912000	0.35992	0.937000	0.57800	2.784000	0.47774	0.633000	0.30452	0.462000	0.41574	CAC	DFNB31	-	superfamily_PDZ	ENSG00000095397		0.662	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2		0	46	0	G	NM_015404		117240860	-1			no_errors	ENST00000362057	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	117240860	G	T	117240860	3	4	37	1	0	0	0	0	1	0	0	0	4469	1252	44	3	1957	3	DFNB31	9	117240860	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	16548473	117240860	23972571	140	8986											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123182069	123182069	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgaggcttagcttaccttGagaaaaactgttcaccataa	15	11	7	8	0	1	2	1	2	0	1	1	3	1	2	2	1	3	3	2	1	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:123182069G>C	ENST00000349780.4	-	27	4353	c.4174C>G	c.(4174-4176)Caa>Gaa	p.Q1392E	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.Q1360E|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.Q1351E|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.Q1392E	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1392					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGCTTACCTTGAGAAAAACTG	0.373																																																	0													205	183	191					9																	123182069		2203	4300	6503	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4174C>G	9.37:g.123182069G>C	ENSP00000343818:p.Gln1392Glu		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.Q1392E	ENST00000349780.4	37	c.4174	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107914	0.77096	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.22539	3.92;3.85;3.93;3.83;2.25;1.95	5.62	5.62	0.85841	.	0.119372	0.38217	N	0.001771	T	0.46658	0.1404	M	0.72118	2.19	0.34373	D	0.692212	D;D;D;D;D;D	0.71674	0.99;0.998;0.994;0.996;0.996;0.994	P;D;P;D;P;D	0.77557	0.848;0.946;0.876;0.99;0.883;0.954	T	0.57871	-0.7736	10	0.52906	T	0.07	.	16.3933	0.83546	0.0:0.0:1.0:0.0	.	402;1161;1360;1392;1392;786	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	E	1360;1351;1392;1392;786;402;1164	ENSP00000354065:Q1360E;ENSP00000352258:Q1351E;ENSP00000343818:Q1392E;ENSP00000353317:Q1392E;ENSP00000400395:Q786E;ENSP00000409941:Q402E	ENSP00000341695:Q1164E	Q	-	1	0	CDK5RAP2	122221890	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.911000	0.69939	2.648000	0.89879	0.655000	0.94253	CAA	CDK5RAP2	-	NULL	ENSG00000136861		0.373	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	-	0	56	0	G	NM_018249		123182069	-1	tier1	-	no_errors	ENST00000349780	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	C	C	123182069	G	C	123182069	3	2	37	1	0	0	0	0	1	0	0	0	3153	1299	45	5	1555	5	CDK5RAP2	9	123182069	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5941209	123182069	18031362	141	8987											
CEP110	11064	genome.wustl.edu	37	chr9	123903795	123903795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactccaagaagaaatggctCtgcagcaagagaaactggca	17	5	10	9	0	1	3	0	0	1	3	2	4	2	3	1	2	4	4	1	2	6	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:123903795C>T	ENST00000373855.1	+	18	2880	c.2620C>T	c.(2620-2622)Ctg>Ttg	p.L874L	CNTRL_ENST00000373847.1_Silent_p.L322L|CNTRL_ENST00000373850.1_Silent_p.L322L|CNTRL_ENST00000238341.5_Silent_p.L874L			Q7Z7A1	CNTRL_HUMAN	centriolin	874					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGAAATGGCTCTGCAGCAAGA	0.478																																																	0													64	64	64					9																	123903795		2203	4300	6503	SO:0001819	synonymous_variant	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2620C>T	9.37:g.123903795C>T			A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.L874	ENST00000373855.1	37	c.2620	CCDS35118.1	9																																																																																			CNTRL	-	superfamily_Prefoldin	ENSG00000119397		0.478	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	-	0	51	0	C	NM_007018		123903795	1	tier1	-	no_errors	ENST00000238341	ensembl	human	known	74_37	silent	16.36	46	9	SNP	1.000	T	T	123903795	C	T	123903795	2	4	37	1	0	0	0	0	0	0	0	1	3252	912	32	3		3	CEP110	9	123903795	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	721726	123903795	17309636	142	8988											
LAMC3	10319	genome.wustl.edu	37	chr9	133948140	133948140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccggatcccagaagacctGcacccagctggcagacctgg	9	4	13	15	1	0	3	0	0	0	3	1	4	1	4	5	4	2	3	5	4	1	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:133948140G>T	ENST00000361069.4	+	19	3468	c.3335G>T	c.(3334-3336)tGc>tTc	p.C1112F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1112	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CAGAAGACCTGCACCCAGCTG	0.647																																																	0													30	31	31					9																	133948140		2203	4299	6502	SO:0001583	missense	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3335G>T	9.37:g.133948140G>T	ENSP00000354360:p.Cys1112Phe		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.C1112F	ENST00000361069.4	37	c.3335	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744343	0.69418	.	.	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.27402	1.67	4.97	4.97	0.65823	.	0.107106	0.64402	D	0.000005	T	0.45617	0.1351	M	0.70595	2.14	0.42012	D	0.990946	D	0.55172	0.97	P	0.51866	0.682	T	0.49103	-0.8974	10	0.56958	D	0.05	.	15.3606	0.74472	0.0:0.0:1.0:0.0	.	1112	Q9Y6N6	LAMC3_HUMAN	F	1112	ENSP00000354360:C1112F	ENSP00000347156:C1112F	C	+	2	0	LAMC3	132937961	0.999000	0.42202	0.983000	0.44433	0.747000	0.42532	3.382000	0.52463	2.476000	0.83614	0.555000	0.69702	TGC	LAMC3	-	NULL	ENSG00000050555		0.647	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	-	0	46	0	G	NM_006059		133948140	1	tier1	-	no_errors	ENST00000361069	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.995	T	T	133948140	G	T	133948140	3	4	37	1	0	0	0	0	1	0	0	0	8644	1319	46	3	3409	3	LAMC3	9	133948140	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	10044345	133948140	7265291	143	8989											
INPP5E	56623	genome.wustl.edu	37	chr9	139327463	139327463	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaaaggtgaagctgatGcccaaggcccccttggtctt	11	8	10	12	0	1	2	0	2	1	0	1	2	1	2	4	3	2	1	4	3	5	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:139327463G>T	ENST00000371712.3	-	5	1626	c.1224C>A	c.(1222-1224)ggC>ggA	p.G408G		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGAAGCTGATGCCCAAGGCCC	0.587																																																	0													201	180	187					9																	139327463		2200	4299	6499	SO:0001819	synonymous_variant	0			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1224C>A	9.37:g.139327463G>T			B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.G408	ENST00000371712.3	37	c.1224	CCDS7000.1	9																																																																																			INPP5E	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000148384		0.587	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1		0	48	0	G	NM_019892		139327463	-1			no_errors	ENST00000371712	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.769	T	T	139327463	G	T	139327463	2	4	37	1	0	0	0	0	0	0	0	1	7784	1306	46	3		3	INPP5E	9	139327463	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5379323	139327463	1885968	144	8990											
RNF208	727800	genome.wustl.edu	37	chr9	140115495	140115495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgggtgccagagttgggGtgggccggggagcaggcggg	4	6	24	7	2	0	1	0	0	0	1	0	2	0	2	2	8	2	3	2	8	0	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr9:140115495G>T	ENST00000392827.1	-	2	338	c.170C>A	c.(169-171)aCc>aAc	p.T57N	RNF208_ENST00000391553.1_Missense_Mutation_p.T57N			Q9H0X6	RN208_HUMAN	ring finger protein 208	57					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CAGAGTTGGGGTGGGCCGGGG	0.627																																																	0													11	14	13					9																	140115495		1900	4112	6012	SO:0001583	missense	0			AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"RING-type (C3HC4) zinc fingers"	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.170C>A	9.37:g.140115495G>T	ENSP00000376572:p.Thr57Asn		A2BFA0	Missense_Mutation	SNP	pfscan_Znf_RING	p.T57N	ENST00000392827.1	37	c.170	CCDS7037.2	9	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091523	0.20471	.	.	ENSG00000212864	ENST00000392827;ENST00000391553	T;T	0.31769	1.48;1.48	4.26	3.29	0.37713	.	0.595434	0.13584	U	0.377134	T	0.21186	0.0510	N	0.08118	0	0.27240	N	0.959172	P	0.45176	0.852	P	0.46253	0.509	T	0.06338	-1.0832	10	0.66056	D	0.02	-30.6633	10.4714	0.44640	0.0:0.0:0.8049:0.1951	.	57	Q9H0X6	RN208_HUMAN	N	57	ENSP00000376572:T57N;ENSP00000375397:T57N	ENSP00000375397:T57N	T	-	2	0	RNF208	139235316	0.975000	0.34042	1.000000	0.80357	0.519000	0.34347	1.297000	0.33400	1.919000	0.55581	0.561000	0.74099	ACC	RNF208	-	NULL	ENSG00000212864		0.627	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF208	HGNC	protein_coding	OTTHUMT00000254714.1		0	53	0	G	NM_031297		140115495	-1			no_errors	ENST00000391553	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	140115495	G	T	140115495	3	4	37	1	0	0	0	0	1	0	0	0	13520	1261	44	3	619	3	RNF208	9	140115495	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	788032	140115495	1097936	145	8991											
KIAA1462	57608	genome.wustl.edu	37	chr10	30315887	30315887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacccaaagacccctctaGctcactggcaccctgttctt	8	11	5	17	0	4	1	2	0	2	1	4	1	4	1	4	1	1	3	4	1	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:30315887G>T	ENST00000375377.1	-	3	3291	c.3190C>A	c.(3190-3192)Cta>Ata	p.L1064I		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1064					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GACCCCTCTAGCTCACTGGCA	0.592																																																	0													158	155	156					10																	30315887		1920	4126	6046	SO:0001583	missense	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3190C>A	10.37:g.30315887G>T	ENSP00000364526:p.Leu1064Ile		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.L1064I	ENST00000375377.1	37	c.3190	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382002	0.42207	.	.	ENSG00000165757	ENST00000375377	T	0.14640	2.49	4.89	-3.17	0.05202	.	2.145100	0.01898	N	0.038981	T	0.22205	0.0535	L	0.56769	1.78	0.09310	N	1	D	0.60160	0.987	P	0.52793	0.709	T	0.39702	-0.9601	10	0.26408	T	0.33	0.4746	7.9295	0.29893	0.4395:0.1227:0.4378:0.0	.	1064	Q9P266	K1462_HUMAN	I	1064	ENSP00000364526:L1064I	ENSP00000364526:L1064I	L	-	1	2	KIAA1462	30355893	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.639000	0.05446	-0.538000	0.06281	-0.502000	0.04539	CTA	KIAA1462	-	NULL	ENSG00000165757		0.592	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	-	0	32	0	G	NM_020848		30315887	-1	tier1	-	no_errors	ENST00000375377	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	T	T	30315887	G	T	30315887	3	4	37	1	0	0	0	0	1	0	0	0	8261	962	34	3	897	3	KIAA1462	10	30315887	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		30315887	105218860	146	8992											
ZNF33A	7581	genome.wustl.edu	37	chr10	38344263	38344263	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccctcacattacaccAgagaacacatacaggggaga	15	5	9	12	0	2	2	2	0	0	2	2	4	2	2	2	2	4	0	2	2	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:38344263A>T	ENST00000458705.2	+	5	1366	c.1208A>T	c.(1207-1209)cAg>cTg	p.Q403L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.Q403L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.Q404L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Q410L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACATTACACCAGAGAACACAT	0.433																																																	0													89	92	91					10																	38344263		2203	4300	6503	SO:0001583	missense	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1208A>T	10.37:g.38344263A>T	ENSP00000387713:p.Gln403Leu		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q410L	ENST00000458705.2	37	c.1229	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602210	0.46423	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	2.34	2.34	0.29019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.239546	0.21722	N	0.070101	T	0.13457	0.0326	N	0.03294	-0.36	0.23287	N	0.997973	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.79108	0.981;0.992;0.968	T	0.07462	-1.0771	10	0.62326	D	0.03	.	8.1899	0.31361	1.0:0.0:0.0:0.0	.	410;403;404	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	404;410;403;403	ENSP00000363747:Q404L;ENSP00000402467:Q410L;ENSP00000387713:Q403L;ENSP00000304268:Q403L	ENSP00000304268:Q403L	Q	+	2	0	ZNF33A	38384269	0.037000	0.19845	1.000000	0.80357	0.993000	0.82548	1.266000	0.33039	1.053000	0.40415	0.377000	0.23210	CAG	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189180		0.433	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	-	0	63	0	A	NM_006974		38344263	1	tier1	-	no_errors	ENST00000432900	ensembl	human	known	74_37	missense	20.27	59	15	SNP	1.000	T	T	38344263	A	T	38344263	3	4	37	1	0	0	0	0	1	0	0	0	17902	188	7	5	1225	5	ZNF33A	10	38344263	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	8028376	38344263	97190484	147	8993											
BICC1	80114	genome.wustl.edu	37	chr10	60549211	60549211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaataacactagtgctGtgaaggtaaattattcagat	15	12	8	6	0	2	3	2	1	0	2	2	3	2	3	0	1	2	2	0	1	7	5	rs201679654		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:60549211G>T	ENST00000373886.3	+	7	794	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	264					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CACTAGTGCTGTGAAGGTAAA	0.318																																																	0													97	94	95					10																	60549211		2203	4300	6503	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.790G>T	10.37:g.60549211G>T	ENSP00000362993:p.Val264Leu			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.V264L	ENST00000373886.3	37	c.790	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787627	0.70337	.	.	ENSG00000122870	ENST00000373886	T	0.48201	0.82	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.37561	1.115	0.80722	D	1	P	0.51351	0.944	P	0.49085	0.6	T	0.39623	-0.9605	10	0.39692	T	0.17	-8.2276	20.2422	0.98381	0.0:0.0:1.0:0.0	.	264	Q9H694	BICC1_HUMAN	L	264	ENSP00000362993:V264L	ENSP00000362993:V264L	V	+	1	0	BICC1	60219217	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.586000	0.67503	2.782000	0.95742	0.655000	0.94253	GTG	BICC1	-	NULL	ENSG00000122870		0.318	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2		0	28	0	G	NM_025044		60549211	1			no_errors	ENST00000373886	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	60549211	G	T	60549211	3	4	37	1	0	0	0	0	1	0	0	0	1429	1377	48	3	816	3	BICC1	10	60549211	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	22204948	60549211	74985536	148	8994											
CTNNA3	29119	genome.wustl.edu	37	chr10	68040237	68040237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaacttacccgaatcatCatgactgaacatctgatatc	15	10	5	11	1	3	3	2	3	1	0	4	4	3	3	1	0	4	1	1	0	5	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:68040237C>A	ENST00000433211.2	-	13	2049	c.1875G>T	c.(1873-1875)atG>atT	p.M625I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.M625I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCCGAATCATCATGACTGAAC	0.358																																																	0													171	165	167					10																	68040237		2203	4299	6502	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1875G>T	10.37:g.68040237C>A	ENSP00000389714:p.Met625Ile			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.M625I	ENST00000433211.2	37	c.1875	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179869	0.78564	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.36340	1.26;1.26	5.78	5.78	0.91487	.	0.079798	0.52532	D	0.000064	T	0.44052	0.1275	L	0.29908	0.895	0.80722	D	1	P	0.40180	0.705	P	0.52758	0.708	T	0.35822	-0.9773	10	0.87932	D	0	-19.9025	15.4992	0.75684	0.0:1.0:0.0:0.0	.	625	Q9UI47	CTNA3_HUMAN	I	625	ENSP00000389714:M625I;ENSP00000362849:M625I	ENSP00000362849:M625I	M	-	3	0	CTNNA3	67710243	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.737000	0.55060	2.724000	0.93272	0.655000	0.94253	ATG	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000183230		0.358	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2		0	44	0	C	NM_013266		68040237	-1			no_errors	ENST00000373744	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	68040237	C	A	68040237	3	1	37	1	0	0	0	0	1	0	0	0	4023	826	29	3	836	3	CTNNA3	10	68040237	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	7491026	68040237	67494510	149	8995											
OIT3	170392	genome.wustl.edu	37	chr10	74684045	74684045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctacccaagcagacccCggggagcagcggggacttca	10	4	14	13	2	2	1	1	0	1	1	2	3	2	3	3	5	4	2	3	5	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:74684045C>T	ENST00000334011.5	+	7	1228	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	337	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AAGCAGACCCCGGGGAGCAGC	0.567																																					Colon(7;19 345 13446 17537)												0													81	80	80					10																	74684045		2203	4300	6503	SO:0001583	missense	0				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1010C>T	10.37:g.74684045C>T	ENSP00000333900:p.Pro337Leu		A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.P337L	ENST00000334011.5	37	c.1010	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093474	0.76756	.	.	ENSG00000138315	ENST00000334011	T	0.80033	-1.33	5.72	5.72	0.89469	Zona pellucida sperm-binding protein (3);	0.000000	0.56097	D	0.000021	D	0.88474	0.6446	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85106	0.0960	10	0.27082	T	0.32	-14.4264	19.879	0.96888	0.0:1.0:0.0:0.0	.	337	Q8WWZ8	OIT3_HUMAN	L	337	ENSP00000333900:P337L	ENSP00000333900:P337L	P	+	2	0	OIT3	74354051	1.000000	0.71417	0.968000	0.41197	0.944000	0.59088	7.525000	0.81892	2.695000	0.91970	0.655000	0.94253	CCG	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000138315		0.567	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	-	0	70	0	C	NM_152635		74684045	1	tier1	-	no_errors	ENST00000334011	ensembl	human	known	74_37	missense	32.65	33	16	SNP	1.000	T	T	74684045	C	T	74684045	3	4	37	1	0	0	0	0	1	0	0	0	10888	652	23	1	1036	1	OIT3	10	74684045	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	6643808	74684045	60850702	150	8996											
NDST2	8509	genome.wustl.edu	37	chr10	75563503	75563503	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagggaagaaatccatGtacctaggaagtagcacaga	17	5	12	7	0	0	2	0	0	0	2	1	5	1	5	2	3	3	3	2	3	7	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:75563503G>T	ENST00000309979.6	-	11	2527	c.1971C>A	c.(1969-1971)taC>taA	p.Y657*	NDST2_ENST00000299641.4_Nonsense_Mutation_p.Y534*|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_Nonsense_Mutation_p.Y657*			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	657	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGAAATCCATGTACCTAGGAA	0.483																																																	0													114	124	121					10																	75563503		2203	4300	6503	SO:0001587	stop_gained	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1971C>A	10.37:g.75563503G>T	ENSP00000310657:p.Tyr657*		Q2TB32|Q59H89	Nonsense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Y657*	ENST00000309979.6	37	c.1971	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	45	12.054000	0.99631	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	.	.	.	5.95	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2834	0.43554	0.2014:0.0:0.7986:0.0	.	.	.	.	X	657;534	.	ENSP00000299641:Y534X	Y	-	3	2	NDST2	75233509	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.249000	0.43169	0.842000	0.35045	0.655000	0.94253	TAC	NDST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000166507		0.483	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1		0	74	0	G	NM_003635		75563503	-1			no_errors	ENST00000309979	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	T	T	75563503	G	T	75563503	4	4	37	1	0	0	0	0	0	1	0	0	10295	1372	48	3	700	3	NDST2	10	75563503	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	879458	75563503	59971244	151	8997											
KCNMA1	3778	genome.wustl.edu	37	chr10	78778787	78778787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttttaacttctttggCatcacttgcgatgaaaaatc	11	16	5	9	1	2	1	1	1	1	0	3	2	2	1	1	1	3	1	1	1	4	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:78778787C>A	ENST00000286628.8	-	17	1998	c.1999G>T	c.(1999-2001)Gcc>Tcc	p.A667S	KCNMA1_ENST00000286627.5_Missense_Mutation_p.A667S|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A667S|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A667S|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A667S|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A667S|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A671S|KCNMA1_ENST00000404771.3_Missense_Mutation_p.A667S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	667					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ACTTCTTTGGCATCACTTGCG	0.408																																																	0													121	123	122					10																	78778787		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1999G>T	10.37:g.78778787C>A	ENSP00000286628:p.Ala667Ser		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.A671S	ENST00000286628.8	37	c.2011		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.4|23.4|23.4	4.416372|4.416372|4.416372	0.83449|0.83449|0.83449	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372403;ENST00000428546	D;D;D;D;D;D;D;D;D|.|.	0.84944|.|.	-1.87;-1.84;-1.88;-1.9;-1.87;-1.87;-1.89;-1.92;-1.92|.|.	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.69584|0.69584|0.69584	0.3127|0.3127|0.3127	L|L|L	0.45698|0.45698|0.45698	1.435|1.435|1.435	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;B;B;P;B;B;B;B|.|.	0.63880|.|.	0.993;0.014;0.049;0.697;0.024;0.093;0.452;0.014|.|.	D;B;B;P;B;B;B;B|.|.	0.83275|.|.	0.996;0.082;0.22;0.899;0.074;0.419;0.367;0.05|.|.	T|T|T	0.64424|0.64424|0.64424	-0.6411|-0.6411|-0.6411	10|5|5	0.30854|.|.	T|.|.	0.27|.|.	-14.7165|-14.7165|-14.7165	19.7445|19.7445|19.7445	0.96247|0.96247|0.96247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	667;667;667;667;667;449;667;667|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	S|F|I	667;604;602;641;604;667;667;641;671;667;667;449|655;345;159|617;150	ENSP00000361517:A667S;ENSP00000361485:A604S;ENSP00000361514:A602S;ENSP00000396608:A641S;ENSP00000361520:A667S;ENSP00000286627:A667S;ENSP00000385552:A671S;ENSP00000346321:A667S;ENSP00000385806:A667S|.|.	ENSP00000286627:A667S|.|.	A|C|M	-|-|-	1|2|3	0|0|0	KCNMA1|KCNMA1|KCNMA1	78448793|78448793|78448793	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.739000|2.739000|2.739000	0.93911|0.93911|0.93911	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|TGC|ATG	KCNMA1	-	NULL	ENSG00000156113		0.408	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	52	0	C	NM_002247		78778787	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	A	A	78778787	C	A	78778787	3	1	37	1	0	0	0	0	1	0	0	0	8100	710	25	3	1915	3	KCNMA1	10	78778787	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	3215284	78778787	56755960	152	8998											
SFTPA2	729238	genome.wustl.edu	37	chr10	81319210	81319210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaggctgccatcaagatGagggtgagggccagagggca	11	4	17	9	0	1	5	1	2	0	3	1	5	1	5	3	4	1	2	3	4	1	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:81319210G>A	ENST00000372325.2	-	3	114	c.30C>T	c.(28-30)ctC>ctT	p.L10L	SFTPA2_ENST00000372327.5_Silent_p.L10L	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	10					respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCATCAAGATGAGGGTGAGGG	0.637									Pulmonary Fibrosis, Idiopathic																																								0													122	83	96					10																	81319210		2202	4294	6496	SO:0001819	synonymous_variant	0	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.30C>T	10.37:g.81319210G>A			A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L10	ENST00000372325.2	37	c.30	CCDS41540.1	10																																																																																			SFTPA2	-	NULL	ENSG00000185303		0.637	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SFTPA2	HGNC	protein_coding	OTTHUMT00000048961.1	-	0	54	0	G	NM_001098668		81319210	-1	tier1	-	no_errors	ENST00000372325	ensembl	human	known	74_37	silent	29.73	26	11	SNP	0.114	A	A	81319210	G	A	81319210	2	1	37	1	0	0	0	0	0	0	0	1	14235	1277	45	3		3	SFTPA2	10	81319210	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2540423	81319210	54215537	153	8999											
DNMBP	23268	genome.wustl.edu	37	chr10	101658499	101658499	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaagcagcaatggaacttaCcattcgttgtataggctcct	11	12	8	10	1	1	0	1	0	0	0	3	1	2	1	2	2	4	5	2	2	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:101658499C>G	ENST00000324109.4	-	8	2812		c.e8+1		DNMBP_ENST00000543621.1_Splice_Site|DNMBP_ENST00000540316.1_5'Flank|DNMBP_ENST00000342239.3_Splice_Site	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein						intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATGGAACTTACCATTCGTTGT	0.368																																																	0													174	170	171					10																	101658499		2203	4300	6503	SO:0001630	splice_region_variant	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.2720+1G>C	10.37:g.101658499C>G			Q8IVY3|Q9Y2L3	Splice_Site	SNP	-	e7+1	ENST00000324109.4	37	c.2720+1	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132644	0.37630	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000543621;ENST00000422692	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0569	0.86536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMBP	101648489	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	4.697000	0.61782	2.534000	0.85438	0.561000	0.74099	.	DNMBP	-	-	ENSG00000107554		0.368	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	-	0	42	0	C	NM_015221	Intron	101658499	-1	tier1	-	no_errors	ENST00000342239	ensembl	human	known	74_37	splice_site	14.29	30	5	SNP	1.000	G	G	101658499	C	G	101658499	5	3	37	1	0	0	0	0	0	0	1	0	4688	521	18	5	2052	5	DNMBP	10	101658499	Splice_Site	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	20339289	101658499	33876248	154	9000											
WNT8B	7479	genome.wustl.edu	37	chr10	102241743	102241743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgatttccaagcagtttgtcGatgccctggaaacaggacag	11	9	11	10	2	0	0	0	0	0	0	2	4	1	2	2	2	3	2	2	2	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:102241743G>C	ENST00000343737.5	+	5	570	c.442G>C	c.(442-444)Gat>Cat	p.D148H		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	148					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GCAGTTTGTCGATGCCCTGGA	0.597											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													117	102	107					10																	102241743		2203	4300	6503	SO:0001583	missense	0			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.442G>C	10.37:g.102241743G>C	ENSP00000340677:p.Asp148His	1365	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.D148H	ENST00000343737.5	37	c.442	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.186423	0.94885	.	.	ENSG00000075290	ENST00000343737	T	0.80393	-1.37	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.93439	0.7907	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95081	0.8213	10	0.87932	D	0	.	19.4761	0.94989	0.0:0.0:1.0:0.0	.	148	Q93098	WNT8B_HUMAN	H	148	ENSP00000340677:D148H	ENSP00000340677:D148H	D	+	1	0	WNT8B	102231733	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	9.813000	0.99286	2.682000	0.91365	0.561000	0.74099	GAT	WNT8B	-	pfam_Wnt,smart_Wnt	ENSG00000075290		0.597	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	-	0	51	0	G	NM_003393		102241743	1	tier1	-	no_errors	ENST00000343737	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	C	C	102241743	G	C	102241743	3	2	37	1	0	0	0	0	1	0	0	0	17446	1058	37	5	460	5	WNT8B	10	102241743	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	583244	102241743	33293004	155	9001											
NEURL	9148	genome.wustl.edu	37	chr10	105349417	105349418	+	Splice_Site	INS	-	-	GTAA																															tctgggtagctctgctggtgINSgtaagtaggctggctcctct																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:105349417_105349418insGTAA	ENST00000369780.4	+	5	1895	c.1486_1486insGTAA	c.(1486-1488)ggg>GTAAggg	p.G496fs	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Splice_Site_p.G479fs	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		496					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTCTGCTGGTGGTAAGTAGGCT	0.644																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000369780.4:c.1486+1->GTAA	10.37:g.105349418_105349421dupGTAA			Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Frame_Shift_Ins	INS	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.T497fs	ENST00000369780.4	37	c.1486_1487	CCDS7551.1	10																																																																																			NEURL	-	NULL	ENSG00000107954		0.644	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	HGNC	protein_coding	OTTHUMT00000050170.1		0	51	0	-		Frame_Shift_Ins	105349418	1	tier1		no_errors	ENST00000369780	ensembl	human	known	74_37	frame_shift_ins	10.00	27	3	INS	0.998:1.000	GTAA	GTAA	105349418	-	GTAA	105349417	8	5	37	1	0	1	1	0	0	0	1	0	10384	1362	47	0	1504	0	NEURL	10	105349417	Splice_Site	INS	-	TCGA-JY-A6FD-01A-11D-A33E-09	3107674	105349417	30185330	156	9002											
COL17A1	1308	genome.wustl.edu	37	chr10	105830296	105830296	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgccgatcgactccccttGagcaaacgcttaacatcatc	10	10	6	15	3	1	1	1	1	0	0	4	3	2	1	3	0	4	2	3	0	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:105830296G>C	ENST00000353479.5	-	9	785	c.495C>G	c.(493-495)ctC>ctG	p.L165L	COL17A1_ENST00000393211.3_Silent_p.L165L|COL17A1_ENST00000369733.3_Silent_p.L165L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	165	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GACTCCCCTTGAGCAAACGCT	0.517																																																	0													148	137	141					10																	105830296		2203	4300	6503	SO:0001819	synonymous_variant	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.495C>G	10.37:g.105830296G>C			Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	pfam_Collagen	p.L165	ENST00000353479.5	37	c.495	CCDS7554.1	10																																																																																			COL17A1	-	NULL	ENSG00000065618		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	-	0	70	0	G	NM_130778, NM_000494		105830296	-1	tier1	-	no_errors	ENST00000353479	ensembl	human	known	74_37	silent	17.50	66	14	SNP	1.000	C	C	105830296	G	C	105830296	2	2	37	1	0	0	0	0	0	0	0	1	3681	1277	45	5		5	COL17A1	10	105830296	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	480879	105830296	29704451	157	9003											
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118354274	118354274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggaggaggtgaactgcatCtgcgtggactggaagaaggg	10	7	19	5	1	1	2	0	1	1	1	1	6	1	6	0	6	3	1	0	6	3	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:118354274C>G	ENST00000528052.1	+	5	434	c.363C>G	c.(361-363)atC>atG	p.I121M	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.I121M|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.I121M			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	121					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGAACTGCATCTGCGTGGACT	0.592																																																	0													123	104	111					10																	118354274		2203	4300	6503	SO:0001583	missense	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.363C>G	10.37:g.118354274C>G	ENSP00000433933:p.Ile121Met		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.I121M	ENST00000528052.1	37	c.363	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211868	0.39102	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000471549;ENST00000534537	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	5.3	3.43	0.39272	Lipase, N-terminal (1);	0.104471	0.50627	D	0.000112	D	0.95865	0.8654	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94480	0.7692	10	0.62326	D	0.03	-21.3591	4.3769	0.11275	0.0:0.5783:0.1747:0.247	.	121	P54315	LIPR1_HUMAN	M	121	ENSP00000436123:I121M;ENSP00000351695:I121M;ENSP00000433933:I121M;ENSP00000431207:I121M;ENSP00000434159:I121M	ENSP00000351695:I121M	I	+	3	3	PNLIPRP1	118344264	0.817000	0.29147	0.989000	0.46669	0.959000	0.62525	0.223000	0.17719	1.374000	0.46228	0.650000	0.86243	ATC	PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase	ENSG00000187021		0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	-	0	55	0	C	NM_006229		118354274	1	tier1	-	no_errors	ENST00000358834	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.929	G	G	118354274	C	G	118354274	3	3	37	1	0	0	0	0	1	0	0	0	12189	903	32	5	377	5	PNLIPRP1	10	118354274	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	12523978	118354274	17180473	158	9004											
DMBT1	1755	genome.wustl.edu	37	chr10	124396806	124396806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatattcacaattccctactCaggctgcggcaccttcaagc	10	10	7	14	1	3	0	3	0	0	0	4	1	4	0	2	2	3	2	2	2	4	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr10:124396806C>T	ENST00000338354.3	+	51	6639	c.6533C>T	c.(6532-6534)tCa>tTa	p.S2178L	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1550L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1550L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S2178L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2168L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S898L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S2168L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2178	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTCCCTACTCAGGCTGCGGC	0.512																																					Ovarian(182;93 2026 18125 22222 38972)												0													56	54	55					10																	124396806		1916	4117	6033	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6533C>T	10.37:g.124396806C>T	ENSP00000342210:p.Ser2178Leu		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR	p.S2178L	ENST00000338354.3	37	c.6533		10	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473675	0.43942	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.99	0.00281	0.14052	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.75824	0.3902	L	0.58101	1.795	0.09310	N	1	B;B;B;B;B;B;B	0.33841	0.138;0.428;0.138;0.053;0.053;0.053;0.065	B;B;B;B;B;B;B	0.35899	0.022;0.213;0.037;0.022;0.022;0.022;0.037	T	0.67749	-0.5590	9	0.87932	D	0	.	1.4448	0.02362	0.2939:0.4178:0.1143:0.174	.	898;2158;1427;2307;1550;2168;2178	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	L	2178;2307;2178;2178;2178;2177;1550;2168;1550;1550;2178;2168;1550;324;898	ENSP00000342210:S2178L;ENSP00000343175:S2168L;ENSP00000327747:S1550L;ENSP00000357905:S2178L;ENSP00000357951:S2168L;ENSP00000357952:S1550L;ENSP00000352593:S898L	ENSP00000331522:S1550L	S	+	2	0	DMBT1	124386796	0.000000	0.05858	0.002000	0.10522	0.428000	0.31595	-0.105000	0.10907	0.205000	0.20568	0.655000	0.94253	TCA	DMBT1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000187908		0.512	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	-	0	38	0	C	NM_004406		124396806	1	tier1	-	no_errors	ENST00000338354	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.006	T	T	124396806	C	T	124396806	3	4	37	1	0	0	0	0	1	0	0	0	4591	838	29	3	6735	3	DMBT1	10	124396806	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	6042532	124396806	11137941	159	9005											
TOLLIP	54472	genome.wustl.edu	37	chr11	1307298	1307298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaccacgggctggggtgGcatcaccatggcagctggaa	9	5	16	11	1	1	0	1	0	0	0	1	2	1	2	2	7	1	4	2	7	1	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:1307298G>A	ENST00000317204.6	-	5	667	c.544C>T	c.(544-546)Cca>Tca	p.P182S	TOLLIP_ENST00000527886.1_Missense_Mutation_p.P113S|TOLLIP_ENST00000525159.1_Missense_Mutation_p.P121S|TOLLIP_ENST00000542915.1_Missense_Mutation_p.P132S|TOLLIP_ENST00000528719.1_5'Flank|TOLLIP_ENST00000263646.7_Missense_Mutation_p.P154S|TOLLIP_ENST00000527938.1_Intron	NM_019009.3	NP_061882.2	Q9H0E2	TOLIP_HUMAN	toll interacting protein	182					autophagy (GO:0006914)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte activation (GO:0045321)|phosphorylation (GO:0016310)|positive regulation of protein sumoylation (GO:0033235)|protein localization to endosome (GO:0036010)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|interleukin-1 receptor complex (GO:0045323)|interleukin-18 receptor complex (GO:0045092)|nuclear body (GO:0016604)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|signal transducer activity (GO:0004871)|Toll-like receptor binding (GO:0035325)			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGCTGGGGTGGCATCACCATG	0.627																																																	0													116	85	96					11																	1307298		2196	4297	6493	SO:0001583	missense	0			AJ242972	CCDS7723.1	11p	2008-02-05			ENSG00000078902	ENSG00000078902			16476	protein-coding gene	gene with protein product		606277				9426216, 10854325	Standard	NM_019009		Approved	IL-1RAcPIP	uc001lte.3	Q9H0E2	OTTHUMG00000133333	ENST00000317204.6:c.544C>T	11.37:g.1307298G>A	ENSP00000314733:p.Pro182Ser		B3KXC6|Q9H9E6|Q9UJ69	Missense_Mutation	SNP	pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE	p.P182S	ENST00000317204.6	37	c.544	CCDS7723.1	11	.	.	.	.	.	.	.	.	.	.	G	7.040	0.562346	0.13498	.	.	ENSG00000078902	ENST00000317204;ENST00000527886;ENST00000525159;ENST00000263646;ENST00000542915;ENST00000382211;ENST00000530541	T;T;T;T;T;T	0.49720	0.83;0.83;0.95;0.77;0.84;0.8	5.08	3.2	0.36748	C2 calcium/lipid-binding domain, CaLB (1);	0.312928	0.31450	N	0.007625	T	0.37544	0.1007	L	0.47716	1.5	0.37865	D	0.929845	B;B;B	0.19445	0.036;0.01;0.0	B;B;B	0.15052	0.012;0.007;0.001	T	0.23797	-1.0178	10	0.22706	T	0.39	-17.4572	10.6031	0.45379	0.072:0.1331:0.7949:0.0	.	121;132;182	F2Z2Y8;B3KR28;Q9H0E2	.;.;TOLIP_HUMAN	S	182;113;121;154;132;213;132	ENSP00000314733:P182S;ENSP00000434035:P113S;ENSP00000432668:P121S;ENSP00000263646:P154S;ENSP00000437404:P132S;ENSP00000434494:P132S	ENSP00000263646:P154S	P	-	1	0	TOLLIP	1263874	1.000000	0.71417	0.857000	0.33713	0.022000	0.10575	4.272000	0.58908	0.715000	0.32103	-0.305000	0.09177	CCA	TOLLIP	-	superfamily_C2_dom	ENSG00000078902		0.627	TOLLIP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TOLLIP	HGNC	protein_coding	OTTHUMT00000257162.2	-	0	35	0	G	NM_019009		1307298	-1	tier1	-	no_errors	ENST00000317204	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.998	A	A	1307298	G	A	1307298	3	1	37	1	0	0	0	0	1	0	0	0	16397	1203	42	3	288	3	TOLLIP	11	1307298	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		1307298	133699218	160	9006											
OR52I2	143502	genome.wustl.edu	37	chr11	4608080	4608080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggattgcattcttctcaTacatcatttgtgcattaaca	11	15	6	9	1	3	0	2	0	2	0	4	1	3	1	0	1	4	2	0	1	2	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:4608080T>C	ENST00000312614.4	+	1	60	c.38T>C	c.(37-39)aTa>aCa	p.I13T		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCTTCTCATACATCATTTG	0.438																																																	0													92	80	84					11																	4608080		2201	4298	6499	SO:0001583	missense	0			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.38T>C	11.37:g.4608080T>C	ENSP00000308764:p.Ile13Thr		B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I13T	ENST00000312614.4	37	c.38	CCDS31355.1	11	.	.	.	.	.	.	.	.	.	.	T	7.011	0.556847	0.13436	.	.	ENSG00000226288	ENST00000312614	T	0.00626	6.13	2.9	-5.8	0.02347	.	4.129600	0.01144	U	0.006271	T	0.00440	0.0014	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48758	-0.9007	10	0.48119	T	0.1	.	1.4437	0.02360	0.3004:0.1078:0.1164:0.4753	.	13	Q8NH67	O52I2_HUMAN	T	13	ENSP00000308764:I13T	ENSP00000308764:I13T	I	+	2	0	OR52I2	4564656	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.080000	0.11339	-1.590000	0.01623	-0.385000	0.06624	ATA	OR52I2	-	NULL	ENSG00000226288		0.438	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52I2	HGNC	protein_coding	OTTHUMT00000385946.1	-	0	35	0	T	NM_001005170		4608080	1	tier1	-	no_errors	ENST00000312614	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.000	C	C	4608080	T	C	4608080	3	2	37	1	0	0	0	0	1	0	0	0	11160	1406	49	4	40	4	OR52I2	11	4608080	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	3300782	4608080	130398436	161	9007											
SYT7	9066	genome.wustl.edu	37	chr11	61286123	61286123	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttcagctggtgccactgGgccacgggctgccggggacg	4	6	17	14	3	1	0	1	0	0	0	1	1	1	1	4	5	3	2	4	5	0	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:61286123G>T	ENST00000263846.4	-	9	1515	c.1188C>A	c.(1186-1188)gcC>gcA	p.A396A	SYT7_ENST00000542836.1_Silent_p.A440A|SYT7_ENST00000539008.1_Silent_p.A679A|SYT7_ENST00000535826.1_Silent_p.A515A|SYT7_ENST00000542670.1_Silent_p.A604A|SYT7_ENST00000540677.1_Silent_p.A471A	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	396					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTGCCACTGGGCCACGGGCT	0.667																																																	0													29	26	27					11																	61286123		1792	3322	5114	SO:0001819	synonymous_variant	0			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"Synaptotagmins"	11514	protein-coding gene	gene with protein product		604146	"prostate cancer associated protein 7"	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.1188C>A	11.37:g.61286123G>T			F5GZU9|Q08AH6	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.A396	ENST00000263846.4	37	c.1188	CCDS31577.1	11																																																																																			SYT7	-	superfamily_C2_dom,smart_C2_dom	ENSG00000011347		0.667	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	-	0	82	0	G	NM_004200		61286123	-1	tier1	-	no_errors	ENST00000263846	ensembl	human	known	74_37	silent	14.94	74	13	SNP	1.000	T	T	61286123	G	T	61286123	2	4	37	1	0	0	0	0	0	0	0	1	15526	1219	43	3		3	SYT7	11	61286123	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	56678043	61286123	73720393	162	9008											
TAF6L	10629	genome.wustl.edu	37	chr11	62549740	62549740	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccactggctgcctccatCaaccccctgaatgaccactg	9	7	8	17	0	1	2	1	2	0	0	2	3	2	2	6	1	3	1	6	1	2	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:62549740C>A	ENST00000294168.3	+	8	963	c.762C>A	c.(760-762)atC>atA	p.I254I	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	254					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGCCTCCATCAACCCCCTGA	0.612																																																	0													81	82	82					11																	62549740		2201	4299	6500	SO:0001819	synonymous_variant	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.762C>A	11.37:g.62549740C>A			B2RAT0|Q96HA6	Silent	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.I254	ENST00000294168.3	37	c.762	CCDS8035.1	11																																																																																			TAF6L	-	pfam_DUF1546	ENSG00000162227		0.612	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1		0	56	0	C	NM_006473		62549740	1			no_errors	ENST00000294168	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	A	A	62549740	C	A	62549740	2	1	37	1	0	0	0	0	0	0	0	1	15578	816	29	3		3	TAF6L	11	62549740	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1263617	62549740	72456776	163	9009											
SUV420H1	51111	genome.wustl.edu	37	chr11	67934523	67934523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgtctgaatttttgctgCtgtcacctaactttttaagc	8	17	7	9	0	2	1	1	1	1	0	2	2	2	1	1	0	4	2	1	0	3	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:67934523C>T	ENST00000304363.4	-	10	1453	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	SUV420H1_ENST00000402789.1_Missense_Mutation_p.S367N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.S367N|SUV420H1_ENST00000405515.1_Missense_Mutation_p.S367N|SUV420H1_ENST00000402185.2_Missense_Mutation_p.S344N	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	367					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTTTTGCTGCTGTCACCTAA	0.403																																																	0													155	143	147					11																	67934523		2200	4294	6494	SO:0001583	missense	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1100G>A	11.37:g.67934523C>T	ENSP00000305899:p.Ser367Asn		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S367N	ENST00000304363.4	37	c.1100	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128262	0.37533	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	T;T;T;T;T	0.48836	0.8;0.89;0.89;0.88;0.9	5.9	4.96	0.65561	.	0.095176	0.64402	D	0.000001	T	0.38692	0.1050	L	0.32530	0.975	0.58432	D	0.999994	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.14811	-1.0459	10	0.45353	T	0.12	-12.7418	14.2086	0.65750	0.0:0.9261:0.0:0.0739	.	344;367;367;367	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	N	367;367;367;367;344	ENSP00000305899:S367N;ENSP00000385965:S367N;ENSP00000385640:S367N;ENSP00000385005:S367N;ENSP00000384724:S344N	ENSP00000305899:S367N	S	-	2	0	SUV420H1	67691099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.783000	0.68982	1.430000	0.47334	0.650000	0.86243	AGC	SUV420H1	-	NULL	ENSG00000110066		0.403	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	-	0	63	0	C	NM_017635		67934523	-1	tier1	-	no_errors	ENST00000304363	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	T	T	67934523	C	T	67934523	3	4	37	1	0	0	0	0	1	0	0	0	15461	797	28	3	1573	3	SUV420H1	11	67934523	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	5384783	67934523	67071993	164	9010											
RELT	84957	genome.wustl.edu	37	chr11	73104900	73104900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcaaccctgcctaccGgactgaggatgccaatgagg	12	6	12	11	1	1	2	1	2	0	0	1	5	1	5	4	4	4	0	4	4	4	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:73104900G>A	ENST00000064780.2	+	7	905	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	RELT_ENST00000393580.2_Missense_Mutation_p.R215Q|RP11-809N8.2_ENST00000544674.1_RNA	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	215						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CCTGCCTACCGGACTGAGGAT	0.592											OREG0021216	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135	139	138					11																	73104900		2200	4293	6493	SO:0001583	missense	0			AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"Tumor necrosis factor receptor superfamily"	13764	protein-coding gene	gene with protein product		611211	"tumor necrosis factor receptor superfamily, member 19-like"	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.644G>A	11.37:g.73104900G>A	ENSP00000064780:p.Arg215Gln	1142	Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	pfam_TNF_rcpt_RELT,prints_TNFR_19-like	p.R215Q	ENST00000064780.2	37	c.644	CCDS8222.1	11	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448923	0.26074	.	.	ENSG00000054967	ENST00000064780;ENST00000393580;ENST00000438119	T;T	0.74842	-0.88;-0.88	5.2	0.838	0.18902	.	0.442672	0.22313	N	0.061715	T	0.61098	0.2320	L	0.60455	1.87	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.40961	-0.9535	10	0.15499	T	0.54	-4.0267	3.9923	0.09543	0.3361:0.0:0.4794:0.1845	.	215	Q969Z4	TR19L_HUMAN	Q	215;215;83	ENSP00000064780:R215Q;ENSP00000377207:R215Q	ENSP00000064780:R215Q	R	+	2	0	RELT	72782548	0.205000	0.23458	0.026000	0.17262	0.976000	0.68499	2.146000	0.42216	-0.053000	0.13289	0.561000	0.74099	CGG	RELT	-	NULL	ENSG00000054967		0.592	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELT	HGNC	protein_coding	OTTHUMT00000397380.2	-	0	52	0	G	NM_032871		73104900	1	tier1	-	no_errors	ENST00000064780	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.008	A	A	73104900	G	A	73104900	3	1	37	1	0	0	0	0	1	0	0	0	13266	1116	39	1	666	1	RELT	11	73104900	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5170377	73104900	61901616	165	9011											
C2CD3	26005	genome.wustl.edu	37	chr11	73753117	73753117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctgagagaagtcagaatgGaggtttgggaggacaaaggt	14	7	16	4	0	1	3	1	1	0	2	1	7	1	6	1	5	0	1	1	5	3	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:73753117G>C	ENST00000334126.7	-	29	5868	c.5642C>G	c.(5641-5643)tCc>tGc	p.S1881C	C2CD3_ENST00000313663.7_Missense_Mutation_p.S1881C			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1881					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGTCAGAATGGAGGTTTGGGA	0.483																																																	0													201	172	182					11																	73753117		2200	4293	6493	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5642C>G	11.37:g.73753117G>C	ENSP00000334379:p.Ser1881Cys		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.S1881C	ENST00000334126.7	37	c.5642		11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049734	0.75846	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000414160	T;T;T	0.16324	2.69;2.75;2.35	5.82	5.82	0.92795	.	0.109450	0.64402	D	0.000005	T	0.38268	0.1034	M	0.74881	2.28	0.42635	D	0.993395	D	0.59357	0.985	P	0.55161	0.77	T	0.03739	-1.1008	10	0.40728	T	0.16	-11.7656	19.6888	0.95989	0.0:0.0:1.0:0.0	.	1881	Q4AC94-1	.	C	1881;1881;689	ENSP00000334379:S1881C;ENSP00000323339:S1881C;ENSP00000388750:S689C	ENSP00000323339:S1881C	S	-	2	0	C2CD3	73430765	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	6.611000	0.74183	2.757000	0.94681	0.585000	0.79938	TCC	C2CD3	-	NULL	ENSG00000168014		0.483	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		-	0	53	0	G	NM_015531		73753117	-1	tier1	-	no_errors	ENST00000334126	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	C	C	73753117	G	C	73753117	3	2	37	1	0	0	0	0	1	0	0	0	2161	1174	41	5	261	5	C2CD3	11	73753117	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	648217	73753117	61253399	166	9012											
CCDC81	60494	genome.wustl.edu	37	chr11	86097108	86097108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagtctctattatctGggggaatgtatcagaatttg	11	15	10	5	0	4	2	2	0	2	2	5	3	4	3	0	2	0	1	0	2	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:86097108G>T	ENST00000445632.2	+	2	367	c.95G>T	c.(94-96)tGg>tTg	p.W32L	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Missense_Mutation_p.W32L	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	32										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCTATTATCTGGGGGAATGTA	0.269																																																	0													57	55	56					11																	86097108		2202	4297	6499	SO:0001583	missense	0			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.95G>T	11.37:g.86097108G>T	ENSP00000415528:p.Trp32Leu		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd_dom	p.W32L	ENST00000445632.2	37	c.95	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903474	0.52333	.	.	ENSG00000149201	ENST00000354755;ENST00000531271;ENST00000445632	T;T	0.79845	-1.31;-0.52	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88706	0.6509	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.994	D	0.87931	0.2710	9	.	.	.	-11.1967	18.0136	0.89232	0.0:0.0:1.0:0.0	.	32;32	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	L	32	ENSP00000346800:W32L;ENSP00000415528:W32L	.	W	+	2	0	CCDC81	85774756	1.000000	0.71417	0.949000	0.38748	0.085000	0.17905	5.293000	0.65680	2.609000	0.88269	0.655000	0.94253	TGG	CCDC81	-	superfamily_IHF-like_DNA-bd_dom	ENSG00000149201		0.269	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	-	0	88	0	G	NM_021827		86097108	1	tier1	-	no_errors	ENST00000445632	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	86097108	G	T	86097108	3	4	37	1	0	0	0	0	1	0	0	0	2862	1357	47	3	101	3	CCDC81	11	86097108	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	12343991	86097108	48909408	167	9013											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103055753	103055753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggtggaaatctgaatatGaagtcacgtttggaatttac	12	14	10	5	1	2	2	1	2	1	0	2	4	2	4	0	3	1	1	0	3	6	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:103055753G>A	ENST00000375735.2	+	41	6750	c.6606G>A	c.(6604-6606)atG>atA	p.M2202I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M2202I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2202					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATCTGAATATGAAGTCACGTT	0.338																																																	0													137	128	131					11																	103055753		1831	4080	5911	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.6606G>A	11.37:g.103055753G>A	ENSP00000364887:p.Met2202Ile		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M2202I	ENST00000375735.2	37	c.6606	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	5.323	0.244959	0.10077	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.26660	1.72;1.72	4.86	3.94	0.45596	.	.	.	.	.	T	0.26011	0.0634	L	0.47716	1.5	0.32313	N	0.563491	B;B	0.06786	0.001;0.001	B;B	0.11329	0.0;0.006	T	0.19128	-1.0315	9	0.38643	T	0.18	.	15.4322	0.75108	0.0:0.1397:0.8603:0.0	.	2202;2202	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	I	2202	ENSP00000364887:M2202I;ENSP00000381167:M2202I	ENSP00000364887:M2202I	M	+	3	0	DYNC2H1	102560963	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	1.823000	0.39062	1.164000	0.42652	0.460000	0.39030	ATG	DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	65	0	G	XM_370652		103055753	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	27.16	59	22	SNP	1.000	A	A	103055753	G	A	103055753	3	1	37	1	0	0	0	0	1	0	0	0	4860	1290	45	3	6768	3	DYNC2H1	11	103055753	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	16958645	103055753	31950763	168	9014											
ATM	472	genome.wustl.edu	37	chr11	108170474	108170474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgggagaagtgggtcCtatagatttctctaccatag	9	13	11	8	0	1	2	0	0	1	2	3	3	2	2	2	2	2	1	2	2	5	6	rs587782153		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:108170474C>A	ENST00000452508.2	+	35	5228	c.5039C>A	c.(5038-5040)cCt>cAt	p.P1680H	ATM_ENST00000278616.4_Missense_Mutation_p.P1680H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1680					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAAGTGGGTCCTATAGATTTC	0.353			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													126	133	130					11																	108170474		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5039C>A	11.37:g.108170474C>A	ENSP00000388058:p.Pro1680His		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P1680H	ENST00000452508.2	37	c.5039	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645295	0.87859	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.67865	-0.29;-0.29	5.2	5.2	0.72013	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.83866	0.0271	10	0.87932	D	0	.	18.7539	0.91825	0.0:1.0:0.0:0.0	.	1680	Q13315	ATM_HUMAN	H	1680	ENSP00000278616:P1680H;ENSP00000388058:P1680H	ENSP00000278616:P1680H	P	+	2	0	ATM	107675684	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	7.114000	0.77103	2.421000	0.82119	0.650000	0.86243	CCT	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	29	0	C	NM_000051		108170474	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	108170474	C	A	108170474	3	1	37	1	0	0	0	0	1	0	0	0	1110	681	24	3	5169	3	ATM	11	108170474	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	5114721	108170474	26836042	169	9015											
ZC3H12C	85463	genome.wustl.edu	37	chr11	110030138	110030138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtccaatgataactacagGgacttggctaatgagaagcc	13	9	11	8	0	0	2	0	2	0	1	1	4	1	3	2	2	3	1	2	2	5	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:110030138G>T	ENST00000278590.3	+	4	1122	c.1071G>T	c.(1069-1071)agG>agT	p.R357S	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.R326S|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R358S	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	357							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		ATAACTACAGGGACTTGGCTA	0.433																																																	0													61	64	63					11																	110030138		2115	4262	6377	SO:0001583	missense	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1071G>T	11.37:g.110030138G>T	ENSP00000278590:p.Arg357Ser		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R357S	ENST00000278590.3	37	c.1071	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973946	0.74246	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.55930	0.49;0.49;0.49	5.55	2.62	0.31277	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.76212	0.3956	M	0.93594	3.435	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.79472	-0.1789	10	0.87932	D	0	-26.6203	9.9478	0.41621	0.2219:0.0:0.7781:0.0	.	358;357;357	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	S	357;358;326	ENSP00000278590:R357S;ENSP00000431821:R358S;ENSP00000413094:R326S	ENSP00000278590:R357S	R	+	3	2	ZC3H12C	109535348	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.936000	0.40183	0.791000	0.33826	0.655000	0.94253	AGG	ZC3H12C	-	pfam_RNase_Zc3h12	ENSG00000149289		0.433	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	-	0	54	0	G	NM_033390		110030138	1	tier1	-	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	110030138	G	T	110030138	3	4	37	1	0	0	0	0	1	0	0	0	17611	1223	43	3	1085	3	ZC3H12C	11	110030138	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1859664	110030138	24976378	170	9016											
ZNF259	8882	genome.wustl.edu	37	chr11	116653716	116653716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccagttcaaattctagCtctgggatttccacactgca	10	13	6	12	0	3	0	1	0	2	0	5	1	5	1	2	1	2	3	2	1	2	5	rs201683739		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:116653716C>A	ENST00000227322.3	-	11	1070	c.1011G>T	c.(1009-1011)gaG>gaT	p.E337D		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		337					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CAAATTCTAGCTCTGGGATTT	0.502																																																	0													87	76	80					11																	116653716		2201	4296	6497	SO:0001583	missense	0																														ENST00000227322.3:c.1011G>T	11.37:g.116653716C>A	ENSP00000227322:p.Glu337Asp		Q2TAA0	Missense_Mutation	SNP	pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1	p.E337D	ENST00000227322.3	37	c.1011	CCDS8375.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	25.0|25.0|25.0	4.597040|4.597040|4.597040	0.87055|0.87055|0.87055	.|.|.	.|.|.	ENSG00000109917|ENSG00000109917|ENSG00000109917	ENST00000429220|ENST00000227322|ENST00000444935	.|T|.	.|0.65549|.	.|-0.16|.	6.17|6.17|6.17	2.7|2.7|2.7	0.31948|0.31948|0.31948	.|Zinc finger, ZPR1-type (3);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.76528|0.76528|0.76528	0.4000|0.4000|0.4000	M|M|M	0.87180|0.87180|0.87180	2.865|2.865|2.865	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.71674|.	.|0.998;0.995|.	.|D;D|.	.|0.71414|.	.|0.964;0.973|.	T|T|T	0.78650|0.78650|0.78650	-0.2121|-0.2121|-0.2121	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	-28.0208|-28.0208|-28.0208	12.1201|12.1201|12.1201	0.53887|0.53887|0.53887	0.0:0.7704:0.0:0.2296|0.0:0.7704:0.0:0.2296|0.0:0.7704:0.0:0.2296	.|.|.	.|286;337|.	.|B4DVT8;O75312|.	.|.;ZPR1_HUMAN|.	S|D|I	264|337|337	.|ENSP00000227322:E337D|.	.|ENSP00000227322:E337D|.	A|E|S	-|-|-	1|3|2	0|2|0	ZNF259|ZNF259|ZNF259	116158926|116158926|116158926	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	3.706000|3.706000|3.706000	0.54830|0.54830|0.54830	0.829000|0.829000|0.829000	0.34733|0.34733|0.34733	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|GAG|AGC	ZNF259	-	pfam_Znf_ZPR1,smart_Znf_ZPR1,tigrfam_Znf_ZPR1	ENSG00000109917		0.502	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF259	HGNC	protein_coding	OTTHUMT00000106283.2		0	57	0	C			116653716	-1			no_errors	ENST00000227322	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A	A	116653716	C	A	116653716	3	1	37	1	0	0	0	0	1	0	0	0	17849	796	28	3	384	3	ZNF259	11	116653716	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	6623578	116653716	18352800	171	9017											
PCSK7	9159	genome.wustl.edu	37	chr11	117098032	117098032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgaggtcatagctaccctCagggctctgaaatattttgg	9	13	11	8	0	3	2	2	2	1	0	3	2	3	2	1	3	2	3	1	3	4	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:117098032C>T	ENST00000320934.3	-	5	1240	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	204	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TAGCTACCCTCAGGGCTCTGA	0.537			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													86	90	89					11																	117098032		2201	4296	6497	SO:0001583	missense	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.610G>A	11.37:g.117098032C>T	ENSP00000325917:p.Glu204Lys		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.E204K	ENST00000320934.3	37	c.610	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874869	0.51695	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.87491	-2.26;-2.26	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.79730	0.4496	N	0.22421	0.69	0.80722	D	1	P	0.35923	0.528	B	0.35931	0.214	T	0.76785	-0.2831	10	0.11794	T	0.64	-29.9691	18.6171	0.91306	0.0:1.0:0.0:0.0	.	204	Q16549	PCSK7_HUMAN	K	204	ENSP00000325917:E204K;ENSP00000431181:E204K	ENSP00000325917:E204K	E	-	1	0	PCSK7	116603242	1.000000	0.71417	0.998000	0.56505	0.215000	0.24574	6.022000	0.70839	2.633000	0.89246	0.655000	0.94253	GAG	PCSK7	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000160613		0.537	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	-	0	31	0	C	NM_004716		117098032	-1	tier1	-	no_errors	ENST00000320934	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	T	T	117098032	C	T	117098032	3	4	37	1	0	0	0	0	1	0	0	0	11644	835	29	3	1799	3	PCSK7	11	117098032	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	444316	117098032	17908484	172	9018											
USP2	9099	genome.wustl.edu	37	chr11	119234618	119234618	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagggacggggagagagGggagcgcggccgcagctcct	8	2	20	11	4	0	1	0	0	0	1	1	5	1	4	2	6	3	3	2	6	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:119234618G>T	ENST00000260187.2	-	3	1069				USP2_ENST00000455332.2_Intron|USP2_ENST00000525735.1_Missense_Mutation_p.P30T	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2						cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGGGAGAGAGGGGAGCGCGGC	0.736																																																	0													6	8	7					11																	119234618		1771	3497	5268	SO:0001627	intron_variant	0			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.775-3674C>A	11.37:g.119234618G>T			B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P30T	ENST00000260187.2	37	c.88	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608493	0.46527	.	.	ENSG00000036672	ENST00000525735	T	0.18960	2.18	5.0	5.0	0.66597	.	.	.	.	.	T	0.13415	0.0325	.	.	.	0.23266	N	0.998013	B	0.12013	0.005	B	0.17098	0.017	T	0.17561	-1.0365	8	0.22706	T	0.39	.	8.8685	0.35300	0.1079:0.0:0.8921:0.0	.	30	O75604-4	.	T	30	ENSP00000436952:P30T	ENSP00000436952:P30T	P	-	1	0	USP2	118739828	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.404000	0.34623	2.330000	0.79161	0.561000	0.74099	CCT	USP2	-	NULL	ENSG00000036672		0.736	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	HGNC	protein_coding	OTTHUMT00000388361.2		0	91	0	G	NM_171997		119234618	-1			no_errors	ENST00000525735	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	119234618	G	T	119234618	1	4	37	0	1	0	0	0	0	0	0	0	17100	1232	43	3		3	USP2	11	119234618	Intron	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2136586	119234618	15771898	173	9019											
PVRL1	5818	genome.wustl.edu	37	chr11	119545303	119545303	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaggtgaagtctctcctCagaacatcctagctcttgtc	8	12	7	14	0	3	2	1	1	2	1	8	2	6	2	3	1	2	1	3	1	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:119545303C>T	ENST00000264025.3	-	5	1534				PVRL1_ENST00000341398.2_Intron|PVRL1_ENST00000340882.2_Silent_p.*353*|PVRL1_ENST00000524510.1_5'Flank	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGTCTCTCCTCAGAACATCCT	0.542																																																	0													334	305	315					11																	119545303		2199	4295	6494	SO:0001627	intron_variant	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1003+565G>A	11.37:g.119545303C>T			O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.*353	ENST00000264025.3	37	c.1058	CCDS8426.1	11																																																																																			PVRL1	-	NULL	ENSG00000110400		0.542	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	-	0	68	0	C			119545303	-1	tier1	-	no_errors	ENST00000340882	ensembl	human	known	74_37	silent	22.86	54	16	SNP	0.000	T	T	119545303	C	T	119545303	1	4	37	0	1	0	0	0	0	0	0	0	12884	837	29	3		3	PVRL1	11	119545303	Intron	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	310685	119545303	15461213	174	9020											
PVRL1	5818	genome.wustl.edu	37	chr11	119545984	119545984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaagaagagggttctgttCtgggcctccacacccttggg	7	11	13	10	0	2	3	0	1	2	2	3	3	3	3	3	3	0	2	3	3	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:119545984C>G	ENST00000264025.3	-	5	1418	c.888G>C	c.(886-888)caG>caC	p.Q296H	PVRL1_ENST00000341398.2_Missense_Mutation_p.Q296H|PVRL1_ENST00000340882.2_Missense_Mutation_p.Q296H|PVRL1_ENST00000524510.1_5'Flank	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	296	Ig-like C2-type 2.|Interaction with FGFR. {ECO:0000250}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGGTTCTGTTCTGGGCCTCCA	0.582																																																	0													135	118	123					11																	119545984		2199	4295	6494	SO:0001583	missense	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.888G>C	11.37:g.119545984C>G	ENSP00000264025:p.Gln296His		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q296H	ENST00000264025.3	37	c.888	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680450	0.29872	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.14893	2.47;2.47;2.47	5.46	3.23	0.37069	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.155438	0.56097	N	0.000024	T	0.11367	0.0277	L	0.41079	1.255	0.32301	N	0.565028	P;P;B	0.46578	0.855;0.88;0.001	B;B;B	0.37239	0.244;0.186;0.001	T	0.15752	-1.0426	10	0.56958	D	0.05	.	6.2147	0.20648	0.1374:0.6469:0.1339:0.0818	.	296;296;296	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	H	296	ENSP00000344974:Q296H;ENSP00000264025:Q296H;ENSP00000345289:Q296H	ENSP00000264025:Q296H	Q	-	3	2	PVRL1	119051194	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.589000	0.23939	1.291000	0.44653	0.655000	0.94253	CAG	PVRL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000110400		0.582	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	-	0	79	0	C			119545984	-1	tier1	-	no_errors	ENST00000264025	ensembl	human	known	74_37	missense	30.49	57	25	SNP	0.998	G	G	119545984	C	G	119545984	3	3	37	1	0	0	0	0	1	0	0	0	12884	912	32	5	1119	5	PVRL1	11	119545984	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	681	119545984	15460532	175	9021											
ST14	6768	genome.wustl.edu	37	chr11	130058798	130058798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcggagtcccattcctggGcccctaccacaaggagtcgg	8	6	12	15	2	0	0	0	0	0	0	3	2	2	2	5	4	2	0	5	4	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr11:130058798G>T	ENST00000278742.5	+	4	822	c.404G>T	c.(403-405)gGc>gTc	p.G135V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	135	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCATTCCTGGGCCCCTACCAC	0.642																																																	0													43	40	41					11																	130058798		2201	4297	6498	SO:0001583	missense	0			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.404G>T	11.37:g.130058798G>T	ENSP00000278742:p.Gly135Val		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G135V	ENST00000278742.5	37	c.404	CCDS8487.1	11	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754125	0.69648	.	.	ENSG00000149418	ENST00000278742	T	0.37411	1.2	5.5	5.5	0.81552	SEA (1);	0.000000	0.38837	N	0.001556	T	0.56455	0.1986	M	0.72894	2.215	0.80722	D	1	D	0.57257	0.979	P	0.58660	0.843	T	0.59616	-0.7421	10	0.72032	D	0.01	.	17.1709	0.86830	0.0:0.0:1.0:0.0	.	135	Q9Y5Y6	ST14_HUMAN	V	135	ENSP00000278742:G135V	ENSP00000278742:G135V	G	+	2	0	ST14	129564008	0.995000	0.38212	1.000000	0.80357	0.667000	0.39255	2.409000	0.44583	2.583000	0.87209	0.561000	0.74099	GGC	ST14	-	pirsf_Peptidase_S1A_matripase,pfam_SEA_dom	ENSG00000149418		0.642	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	-	0	67	0	G			130058798	1	tier1	-	no_errors	ENST00000278742	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	130058798	G	T	130058798	3	4	37	1	0	0	0	0	1	0	0	0	15258	1203	42	3	418	3	ST14	11	130058798	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	10512814	130058798	4947718	176	9022											
SLC6A13	6540	genome.wustl.edu	37	chr12	369020	369020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggctctcatctcacctcCcccatttttgtagcagagat	9	12	7	13	0	2	1	2	0	2	1	5	2	3	1	3	1	1	3	3	1	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:369020C>T	ENST00000343164.4	-	2	251	c.199G>A	c.(199-201)Gga>Aga	p.G67R	SLC6A13_ENST00000436453.1_Missense_Mutation_p.G67R|RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000445055.2_Missense_Mutation_p.G67R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	67					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATCTCACCTCCCCCATTTTTG	0.542																																																	0													140	127	131					12																	369020		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.199G>A	12.37:g.369020C>T	ENSP00000339260:p.Gly67Arg		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.G67R	ENST00000343164.4	37	c.199	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921275	0.73213	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319;ENST00000436453	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	H	0.99182	4.46	0.39972	D	0.974809	B;D;D;D	0.89917	0.018;1.0;1.0;1.0	B;D;D;D	0.97110	0.011;0.999;1.0;0.999	D	0.98900	1.0776	10	0.87932	D	0	.	20.3594	0.98849	0.0:1.0:0.0:0.0	.	67;46;67;67	B4DJL1;B4DJS3;Q8WW56;Q9NSD5	.;.;.;S6A13_HUMAN	R	67;46;67;67;67	ENSP00000407104:G67R;ENSP00000339260:G67R;ENSP00000444606:G67R;ENSP00000389316:G67R	ENSP00000318097:G46R	G	-	1	0	SLC6A13	239281	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.818000	0.86416	2.816000	0.96949	0.563000	0.77884	GGA	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.542	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1		0	39	0	C	NM_016615		369020	-1			no_errors	ENST00000343164	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	369020	C	T	369020	3	4	37	1	0	0	0	0	1	0	0	0	14721	632	22	3	1665	3	SLC6A13	12	369020	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		369020	133482875	177	9023											
FOXJ2	55810	genome.wustl.edu	37	chr12	8201390	8201390	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcattgagcagtcacaattCtcaggttagtgatcaaagga	14	10	10	7	0	3	2	3	2	1	0	4	3	3	3	0	2	2	3	0	2	3	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:8201390C>T	ENST00000162391.3	+	8	2468	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	FOXJ2_ENST00000428177.2_Silent_p.F441F	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	441					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		AGTCACAATTCTCAGGTTAGT	0.453																																																	0													125	123	124					12																	8201390		2203	4300	6503	SO:0001819	synonymous_variant	0			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1323C>T	12.37:g.8201390C>T			A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F441	ENST00000162391.3	37	c.1323	CCDS8587.1	12																																																																																			FOXJ2	-	NULL	ENSG00000065970		0.453	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	-	0	29	0	C	NM_018416		8201390	1	tier1	-	no_errors	ENST00000162391	ensembl	human	known	74_37	silent	21.62	29	8	SNP	1.000	T	T	8201390	C	T	8201390	2	4	37	1	0	0	0	0	0	0	0	1	6036	912	32	3		3	FOXJ2	12	8201390	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	7832370	8201390	125650505	178	9024											
TAS2R30	259293	genome.wustl.edu	37	chr12	11286713	11286714	+	Missense_Mutation	DNP	AC	AC	TG																															gagcagtgagaatttggtcaAcaaaggagatcttttgtctc																								rs113799622		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:11286713_11286714AC>TG	ENST00000539585.1	-	1	529_530	c.130_131GT>CA	c.(130-132)GTt>CAt	p.V44H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	44					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATTTGGTCAACAAAGGAGATC	0.381																																																	0																																										SO:0001583	missense	0			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19112	protein-coding gene	gene with protein product		613963	"taste receptor, type 2, member 47"	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.130_131delinsTG	12.37:g.11286713_11286714delinsTG	ENSP00000444736:p.Val44His		Q645X7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V44D|p.V44L	ENST00000539585.1	37	c.131|c.130	CCDS53750.1	12																																																																																			TAS2R30	-	pfam_TAS2_rcpt	ENSG00000256188		0.381	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R30	HGNC	protein_coding	OTTHUMT00000400238.1	-	0	74	0	A|C	NM_001097643		11286713|11286714	-1	tier1	-	no_errors	ENST00000539585	ensembl	human	known	74_37	missense	28.38|29.33	53	21|22	SNP	0.000	T|G	TG	11286714	AC	TG	11286713	3	4	37	1	0	0	0	0	1	0	0	0	15620	43	2	5	832	5	TAS2R30	12	11286713	Missense_Mutation	DNP	AC	TCGA-JY-A6FD-01A-11D-A33E-09	3085323	11286713	122565182	179	9025											
PRB1	5542	genome.wustl.edu	37	chr12	11506274	11506274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggctttcctggaggtgGgggaccttgaggtttgttgc	3	15	17	6	0	0	1	0	1	0	0	1	3	1	3	2	6	1	3	2	6	0	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:11506274G>C	ENST00000500254.2	-	4	401	c.364C>G	c.(364-366)Cca>Gca	p.P122A	PRB1_ENST00000546254.1_Missense_Mutation_p.P122A|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGTGGGGGACCTTGA	0.612																																																	0													114	140	131					12																	11506274		2123	4274	6397	SO:0001583	missense	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.364C>G	12.37:g.11506274G>C	ENSP00000420826:p.Pro122Ala		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	NULL	p.P122A	ENST00000500254.2	37	c.364	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.310138	0.00237	.	.	ENSG00000251655	ENST00000500254;ENST00000546254	T;T	0.04454	3.62;3.62	1.29	-0.935	0.10423	.	.	.	.	.	T	0.05914	0.0154	M	0.79343	2.45	0.09310	N	1	B;B	0.16603	0.018;0.018	B;B	0.11329	0.004;0.006	T	0.43261	-0.9402	8	.	.	.	.	0.5372	0.00638	0.1834:0.2427:0.3292:0.2447	.	262;122	Q86YA1;G3V1M9	.;.	A	122	ENSP00000420826:P122A;ENSP00000442127:P122A	.	P	-	1	0	PRB1	11397541	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-0.504000	0.06375	-0.270000	0.09285	0.134000	0.15878	CCA	PRB1	-	NULL	ENSG00000251655		0.612	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	-	0	103	0	G	NM_005039		11506274	-1	tier1	-	no_errors	ENST00000500254	ensembl	human	known	74_37	missense	5.15	92	5	SNP	0.000	C	C	11506274	G	C	11506274	3	2	37	1	0	0	0	0	1	0	0	0	12484	1232	43	5	236	5	PRB1	12	11506274	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	219561	11506274	122345621	180	9026											
SLC38A1	81539	genome.wustl.edu	37	chr12	46582819	46582819	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagggaatgctgaccaaGgagaacaacacccccaggcc	15	2	10	14	0	0	2	0	1	0	1	0	4	0	3	5	3	3	1	5	3	5	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:46582819G>T	ENST00000398637.5	-	17	2092	c.1398C>A	c.(1396-1398)tcC>tcA	p.S466S	SLC38A1_ENST00000549049.1_Silent_p.S466S|SLC38A1_ENST00000546893.1_Silent_p.S466S|SLC38A1_ENST00000439706.1_Silent_p.S466S	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	466					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TGCTGACCAAGGAGAACAACA	0.507																																																	0													86	93	90					12																	46582819		1949	4154	6103	SO:0001819	synonymous_variant	0			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1398C>A	12.37:g.46582819G>T			Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Silent	SNP	pfam_AA_transpt_TM	p.S466	ENST00000398637.5	37	c.1398	CCDS41774.1	12																																																																																			SLC38A1	-	pfam_AA_transpt_TM	ENSG00000111371		0.507	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	-	0	38	0	G			46582819	-1	tier1	-	no_errors	ENST00000398637	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.998	T	T	46582819	G	T	46582819	2	4	37	1	0	0	0	0	0	0	0	1	14646	987	35	3		3	SLC38A1	12	46582819	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	35076545	46582819	87269076	181	9027											
SLC38A4	55089	genome.wustl.edu	37	chr12	47172402	47172402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccagccctgcaggattgCggtgggtgtaatccatcatg	8	10	12	11	1	1	0	1	0	0	0	3	1	3	1	3	3	3	2	3	3	1	2	rs189669525	byFrequency	TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:47172402C>T	ENST00000447411.1	-	10	1081	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC38A4_ENST00000266579.4_Missense_Mutation_p.R292H	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	292					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.R292H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGCAGGATTGCGGTGGGTGTA	0.458																																																	1	Substitution - Missense(1)	endometrium(1)											116	104	108					12																	47172402		2203	4299	6502	SO:0001583	missense	0			AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"Solute carriers"	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.875G>A	12.37:g.47172402C>T	ENSP00000389843:p.Arg292His		A8K553	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R292H	ENST00000447411.1	37	c.875	CCDS8750.1	12	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649611	0.29336	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04119	3.7;3.7	4.91	-1.52	0.08637	.	0.991659	0.08198	N	0.982792	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.32370	T	0.25	0.0169	10.3171	0.43743	0.0:0.4305:0.0:0.5695	.	292	Q969I6	S38A4_HUMAN	H	292	ENSP00000389843:R292H;ENSP00000266579:R292H	ENSP00000266579:R292H	R	-	2	0	SLC38A4	45458669	0.000000	0.05858	0.002000	0.10522	0.942000	0.58702	-0.503000	0.06383	-0.352000	0.08237	0.484000	0.47621	CGC	SLC38A4	-	NULL	ENSG00000139209		0.458	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A4	HGNC	protein_coding	OTTHUMT00000404574.1		0	27	0	C			47172402	-1			no_errors	ENST00000266579	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	47172402	C	T	47172402	3	4	37	1	0	0	0	0	1	0	0	0	14651	768	27	1	796	1	SLC38A4	12	47172402	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	589583	47172402	86679493	182	9028											
MLL2	8085	genome.wustl.edu	37	chr12	49422901	49422902	+	Nonsense_Mutation	DNP	GC	GC	AA																															ggagagggcccggtcctcttGctcccaccggcctgagccca																								rs368920289		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:49422901_49422902GC>AA	ENST00000301067.7	-	44	14192_14193	c.14193_14194GC>TT	c.(14191-14196)gaGCaa>gaTTaa	p.4731_4732EQ>D*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4731					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CGGTCCTCTTGCTCCCACCGGC	0.624																																																	0																																										SO:0001587	stop_gained	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14193_14194delinsAA	12.37:g.49422901_49422902delinsAA	ENSP00000301067:p.E4731_Q4732delinsD*		O14687	Nonsense_Mutation|Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q4732*|p.E4731D	ENST00000301067.7	37	c.14194|c.14193	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.624	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	61	0	G|C			49422901|49422902	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense|missense	19.23	21	5	SNP	1.000	A	AA	49422902	GC	AA	49422901	4	1	37	1	0	0	0	0	0	1	0	0	9659	1328	46	3	2463	3	MLL2	12	49422901	Nonsense_Mutation	DNP	GC	TCGA-JY-A6FD-01A-11D-A33E-09	2250499	49422901	84428994	183	9029											
FMNL3	91010	genome.wustl.edu	37	chr12	50044990	50044990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttcgctgaagacagtGccactgatctggttgggttt	8	13	12	8	1	2	3	1	2	1	1	3	3	2	3	1	2	1	4	1	2	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:50044990G>T	ENST00000293590.5	-	16	1991	c.1758C>A	c.(1756-1758)ggC>ggA	p.G586G	FMNL3_ENST00000352151.5_Silent_p.G535G|FMNL3_ENST00000550488.1_Silent_p.G586G|FMNL3_ENST00000335154.5_Silent_p.G586G			Q8IVF7	FMNL3_HUMAN	formin-like 3	586	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGAAGACAGTGCCACTGATCT	0.502																																																	0													111	107	108					12																	50044990		1973	4197	6170	SO:0001819	synonymous_variant	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1758C>A	12.37:g.50044990G>T			B0JZA7|Q6ZRJ1	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.G586	ENST00000293590.5	37	c.1758		12																																																																																			FMNL3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000161791		0.502	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding			0	80	0	G	NM_175736		50044990	-1			no_errors	ENST00000293590	ensembl	human	known	74_37	silent	5.00	75	4	SNP	1.000	T	T	50044990	G	T	50044990	2	4	37	1	0	0	0	0	0	0	0	1	5975	1306	46	3		3	FMNL3	12	50044990	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	622089	50044990	83806905	184	9030											
LETMD1	25875	genome.wustl.edu	37	chr12	51450147	51450147	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacagaaagccttgagccgGgccatgcttctcacatctta	10	11	8	12	1	2	2	1	1	2	1	3	2	2	2	3	1	4	1	3	1	3	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:51450147G>T	ENST00000262055.4	+	7	816	c.777G>T	c.(775-777)cgG>cgT	p.R259R	LETMD1_ENST00000418425.2_Silent_p.R272R|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000547008.1_Silent_p.R135R|LETMD1_ENST00000552739.1_Silent_p.R142R|LETMD1_ENST00000550929.1_Silent_p.R203R|LETMD1_ENST00000548516.1_3'UTR	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	259	LETM1.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CCTTGAGCCGGGCCATGCTTC	0.468																																																	0													194	161	172					12																	51450147		2203	4300	6503	SO:0001819	synonymous_variant	0			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"cervical cancer 1 protooncogene"					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.777G>T	12.37:g.51450147G>T			A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	NULL	p.G97C	ENST00000262055.4	37	c.289	CCDS8806.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215026|3.215026	0.58452|0.58452	.|.	.|.	ENSG00000050426|ENSG00000050426	ENST00000553043|ENST00000551931	.|.	.|.	.|.	5.49|5.49	0.312|0.312	0.15837|0.15837	.|.	.|.	.|.	.|.	.|.	T|T	0.42359|0.42359	0.1199|0.1199	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;B|.	0.56287|.	0.975;0.044|.	P;B|.	0.54100|.	0.742;0.066|.	T|T	0.21280|0.21280	-1.0250|-1.0250	7|4	0.87932|.	D|.	0|.	-8.0586|-8.0586	1.928|1.928	0.03321|0.03321	0.3972:0.1254:0.3507:0.1267|0.3972:0.1254:0.3507:0.1267	.|.	97;97|.	B7Z9A7;F8W6J0|.	.;.|.	C|V	28|43	.|.	ENSP00000369478:G97C|.	G|G	+|+	1|2	0|0	LETMD1|LETMD1	49736414|49736414	0.943000|0.943000	0.32029|0.32029	0.994000|0.994000	0.49952|0.49952	0.985000|0.985000	0.73830|0.73830	-0.228000|-0.228000	0.09114|0.09114	-0.146000|-0.146000	0.11274|0.11274	-0.137000|-0.137000	0.14449|0.14449	GGC|GGG	LETMD1	-	NULL	ENSG00000050426		0.468	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	-	0	28	0	G	NM_015416		51450147	1	tier1	-	no_errors	ENST00000550100	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.987	T	T	51450147	G	T	51450147	2	4	37	1	0	0	0	0	0	0	0	1	8764	1219	43	3		3	LETMD1	12	51450147	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1405157	51450147	82401748	185	9031											
POU6F1	5463	genome.wustl.edu	37	chr12	51586185	51586185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggcagatggcttggCggctggagctgggctggcaa	8	6	19	8	1	0	2	0	0	0	2	0	3	0	3	0	7	2	7	0	7	1	1	rs139629485	byFrequency	TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:51586185C>T	ENST00000389243.4	-	9	1258	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	POU6F1_ENST00000333640.10_Missense_Mutation_p.A107T|POU6F1_ENST00000550824.1_Missense_Mutation_p.A107T			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	107	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A107T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GATGGCTTGGCGGCTGGAGCT	0.597													C|||	2	0.000399361	0.0015	0	5008	,	,		16879	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	94	92	93		319	1.4	0.1	12	dbSNP_134	93	0,8600		0,0,4300	yes	missense	POU6F1	NM_002702.3	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	107/302	51586185	6,13000	2203	4300	6503	SO:0001583	missense	0			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.319G>A	12.37:g.51586185C>T	ENSP00000373895:p.Ala107Thr		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A107T	ENST00000389243.4	37	c.319	CCDS31803.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.47	1.358510	0.24598	0.001362	0.0	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.84730	-1.89;-1.89;-1.89	5.69	1.42	0.22433	.	0.417442	0.21082	U	0.080474	T	0.73094	0.3543	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52503	-0.8567	10	0.08837	T	0.75	.	7.4781	0.27390	0.0:0.4386:0.4107:0.1507	.	107	Q14863	PO6F1_HUMAN	T	107	ENSP00000373895:A107T;ENSP00000330190:A107T;ENSP00000448389:A107T	ENSP00000330190:A107T	A	-	1	0	POU6F1	49872452	0.353000	0.24904	0.056000	0.19401	0.978000	0.69477	0.706000	0.25690	0.289000	0.22422	0.655000	0.94253	GCC	POU6F1	-	NULL	ENSG00000184271		0.597	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	HGNC	protein_coding	OTTHUMT00000405126.1		0	31	0	C	NM_002702		51586185	-1			no_errors	ENST00000333640	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.044	T	T	51586185	C	T	51586185	3	4	37	1	0	0	0	0	1	0	0	0	12323	768	27	1	598	1	POU6F1	12	51586185	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	136038	51586185	82265710	186	9032											
TENC1	23371	genome.wustl.edu	37	chr12	53457660	53457660	+	Frame_Shift_Del	DEL	A	A	-																															aaagttctactgggccagagAaaatgaaggaaggccacaag																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:53457660delA	ENST00000314250.6	+	29	4514	c.4224delA	c.(4222-4224)agafs	p.R1408fs	TENC1_ENST00000451358.1_Frame_Shift_Del_p.R1398fs|TENC1_ENST00000314276.3_Frame_Shift_Del_p.R1418fs|TENC1_ENST00000549700.1_Frame_Shift_Del_p.R1343fs|TENC1_ENST00000546602.1_Frame_Shift_Del_p.R1311fs|TENC1_ENST00000552570.1_Frame_Shift_Del_p.R1406fs|TENC1_ENST00000379902.3_Frame_Shift_Del_p.R1284fs	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1408					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGGGCCAGAGAAAATGAAGGA	0.592																																																	0													86	88	87					12																	53457660		2203	4300	6503	SO:0001589	frameshift_variant	0			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	19737	protein-coding gene	gene with protein product	"tensin 2"	607717	"tensin like C1 domain-containing phosphatase"				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.4224delA	12.37:g.53457660delA	ENSP00000319684:p.Arg1408fs		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Frame_Shift_Del	DEL	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.K1419fs	ENST00000314250.6	37	c.4254	CCDS8843.1	12																																																																																			TENC1	-	smart_PTB/PI_dom	ENSG00000111077		0.592	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1		0	29	0	A	NM_170754		53457660	1	tier1		no_errors	ENST00000314276	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.996	-	-	53457660	A	-	53457660	7	5	37	1	0	1	0	1	0	0	0	0	15805	243	9	0	4447	0	TENC1	12	53457660	Frame_Shift_Del	DEL	A	TCGA-JY-A6FD-01A-11D-A33E-09	1871475	53457660	80394235	187	9033											
ZNF385A	25946	genome.wustl.edu	37	chr12	54767829	54767829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctccaggttctcggaCgccaggctccctgcctctgg	3	10	13	15	2	3	0	0	0	3	0	6	1	4	1	4	5	1	2	4	5	0	1	rs201286538		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:54767829C>T	ENST00000338010.5	-	4	402	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	ZNF385A_ENST00000394313.2_Missense_Mutation_p.V97I|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000546970.1_Missense_Mutation_p.V97I|ZNF385A_ENST00000551109.1_Missense_Mutation_p.V97I|ZNF385A_ENST00000352268.6_Missense_Mutation_p.V117I|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000551771.1_Missense_Mutation_p.V97I|RP11-753H16.5_ENST00000552785.1_RNA	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	117					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GGTTCTCGGACGCCAGGCTCC	0.597																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	81	69	73		289,349,349	-1.4	0	12		73	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	ZNF385A	NM_015481.1,NM_001130968.1,NM_001130967.1	29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	benign,benign,benign	97/367,117/306,117/387	54767829	3,13003	2203	4300	6503	SO:0001583	missense	0			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.349G>A	12.37:g.54767829C>T	ENSP00000338927:p.Val117Ile		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.V117I	ENST00000338010.5	37	c.349	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	C	6.888	0.533269	0.13188	0.0	3.49E-4	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937;ENST00000549962;ENST00000547210;ENST00000550774;ENST00000550120	T;T;T;T;T;T;T;T;T;T;T	0.44083	1.56;0.98;1.56;1.56;1.56;0.98;1.55;1.57;0.95;0.93;0.94	4.02	-1.42	0.08913	.	1.246770	0.05892	N	0.628450	T	0.21186	0.0510	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001	B;B;B;B;B	0.06405	0.001;0.0;0.002;0.001;0.001	T	0.23084	-1.0198	10	0.32370	T	0.25	-0.4248	10.2868	0.43573	0.0:0.5539:0.0:0.4461	.	97;97;97;97;97	Q96PM9-2;F8VSJ1;F8VRY0;Q96PM9;F1T0F1	.;.;.;Z385A_HUMAN;.	I	97;117;97;117;97;97;97;79;80;97;97;60	ENSP00000449161:V97I;ENSP00000293385:V117I;ENSP00000377849:V97I;ENSP00000338927:V117I;ENSP00000446913:V97I;ENSP00000447162:V97I;ENSP00000448466:V97I;ENSP00000448567:V79I;ENSP00000450149:V80I;ENSP00000448264:V97I;ENSP00000449462:V97I	ENSP00000338927:V117I	V	-	1	0	ZNF385A	53054096	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-0.985000	0.03751	-0.726000	0.04895	-1.134000	0.01955	GTC	ZNF385A	-	NULL	ENSG00000161642		0.597	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	-	0	80	0	C	NM_015481		54767829	-1	tier1	rs201286538	no_errors	ENST00000338010	ensembl	human	known	74_37	missense	26.98	46	17	SNP	0.016	T	T	54767829	C	T	54767829	3	4	37	1	0	0	0	0	1	0	0	0	17924	536	19	1	831	1	ZNF385A	12	54767829	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1310169	54767829	79084066	188	9034											
NAV3	89795	genome.wustl.edu	37	chr12	78511809	78511809	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatttgtctttatagctGaggacagattcagagaaacg	14	13	9	5	1	2	3	1	1	1	2	2	5	2	4	0	1	2	1	0	1	5	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:78511809G>T	ENST00000397909.2	+	14	2945	c.2772G>T	c.(2770-2772)ctG>ctT	p.L924L	NAV3_ENST00000228327.6_Silent_p.L924L|NAV3_ENST00000266692.7_Silent_p.L924L|NAV3_ENST00000536525.2_Silent_p.L924L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	924				L -> V (in Ref. 3; AAM73757). {ECO:0000305}.		membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L924L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTTTATAGCTGAGGACAGATT	0.368										HNSCC(70;0.22)																																							1	Substitution - coding silent(1)	lung(1)											97	100	99					12																	78511809		1834	4093	5927	SO:0001819	synonymous_variant	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2772G>T	12.37:g.78511809G>T			Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L924	ENST00000397909.2	37	c.2772		12																																																																																			NAV3	-	NULL	ENSG00000067798		0.368	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	42	0	G	NM_001024383		78511809	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.998	T	T	78511809	G	T	78511809	2	4	37	1	0	0	0	0	0	0	0	1	10223	1277	45	3		3	NAV3	12	78511809	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	23743980	78511809	55340086	189	9035											
FOXN4	121643	genome.wustl.edu	37	chr12	109724463	109724463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggactcaccttgaagtagGggaagtgctccttcatgaag	10	10	13	8	0	2	2	2	2	0	0	3	4	3	4	2	3	1	2	2	3	4	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:109724463G>T	ENST00000299162.5	-	7	787	c.683C>A	c.(682-684)cCc>cAc	p.P228H	FOXN4_ENST00000355216.1_Missense_Mutation_p.P48H	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	228					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(5)|lung(9)|ovary(2)	16						CTTGAAGTAGGGGAAGTGCTC	0.612																																																	0													98	70	80					12																	109724463		2203	4300	6503	SO:0001583	missense	0			AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"Forkhead boxes"	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.683C>A	12.37:g.109724463G>T	ENSP00000299162:p.Pro228His		Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P228H	ENST00000299162.5	37	c.683	CCDS9126.2	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366745	0.82463	.	.	ENSG00000139445	ENST00000355216;ENST00000299162	D;D	0.96992	-4.2;-4.2	4.4	4.4	0.53042	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98972	0.9650	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99184	1.0868	10	0.87932	D	0	-1.5799	16.3552	0.83233	0.0:0.0:1.0:0.0	.	228;228	A6H901;Q96NZ1	.;FOXN4_HUMAN	H	48;228	ENSP00000347354:P48H;ENSP00000299162:P228H	ENSP00000299162:P228H	P	-	2	0	FOXN4	108208846	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.815000	0.99349	2.171000	0.68590	0.491000	0.48974	CCC	FOXN4	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000139445		0.612	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN4	HGNC	protein_coding	OTTHUMT00000328306.1	-	0	32	0	G	XM_062735		109724463	-1	tier1	-	no_errors	ENST00000299162	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	109724463	G	T	109724463	3	4	37	1	0	0	0	0	1	0	0	0	6046	1232	43	3	886	3	FOXN4	12	109724463	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	31212654	109724463	24127432	190	9036											
PLBD2	196463	genome.wustl.edu	37	chr12	113824744	113824744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catccttgtccccggcaggtCcttcgagactgtgttcaatg	6	12	10	13	2	1	1	1	0	0	1	5	2	4	1	4	2	0	2	4	2	1	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:113824744C>T	ENST00000280800.3	+	10	1320	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	PLBD2_ENST00000545182.2_Missense_Mutation_p.S398F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	430					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCGGCAGGTCCTTCGAGACT	0.622																																																	0													51	44	46					12																	113824744		2203	4300	6503	SO:0001583	missense	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1289C>T	12.37:g.113824744C>T	ENSP00000280800:p.Ser430Phe		F5H5E2	Missense_Mutation	SNP	pfam_PLipase_B-like	p.S430F	ENST00000280800.3	37	c.1289	CCDS9168.1	12	.	.	.	.	.	.	.	.	.	.	C	9.838	1.190293	0.21954	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.10860	2.83;2.83	5.33	0.429	0.16506	.	0.252483	0.41194	D	0.000924	T	0.04318	0.0119	N	0.02181	-0.65	0.23975	N	0.996292	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.36939	-0.9727	10	0.30854	T	0.27	-22.8453	15.2073	0.73190	0.6683:0.3317:0.0:0.0	.	398;430	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	F	398;430	ENSP00000443463:S398F;ENSP00000280800:S430F	ENSP00000280800:S430F	S	+	2	0	PLBD2	112309127	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	2.265000	0.43311	0.149000	0.19098	0.561000	0.74099	TCC	PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.622	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	-	0	32	0	C	NM_173542		113824744	1	tier1	-	no_errors	ENST00000280800	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	T	T	113824744	C	T	113824744	3	4	37	1	0	0	0	0	1	0	0	0	12065	855	30	3	1327	3	PLBD2	12	113824744	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	4100281	113824744	20027151	191	9037											
SBNO1	55206	genome.wustl.edu	37	chr12	123798200	123798200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaggatagtctggaggtgGtgataccataggagaatcca	12	9	13	7	0	1	2	0	1	1	1	3	5	3	4	3	5	1	0	3	5	4	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:123798200G>T	ENST00000602398.1	-	24	3314	c.3187C>A	c.(3187-3189)Cca>Aca	p.P1063T	SBNO1_ENST00000267176.4_Missense_Mutation_p.P1062T|SBNO1_ENST00000420886.2_Missense_Mutation_p.P1063T|SBNO1_ENST00000602750.1_Missense_Mutation_p.P1062T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1063					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCTGGAGGTGGTGATACCATA	0.318																																																	0													68	69	69					12																	123798200		2203	4300	6503	SO:0001583	missense	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3187C>A	12.37:g.123798200G>T	ENSP00000473665:p.Pro1063Thr		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.P1063T	ENST00000602398.1	37	c.3187	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511360	0.85389	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.34667	1.35;1.35	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.962	D;D;P	0.91635	0.999;0.998;0.828	T	0.54977	-0.8212	10	0.23302	T	0.38	-10.9363	19.4863	0.95030	0.0:0.0:1.0:0.0	.	1063;1062;174	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	T	1063;1062	ENSP00000387361:P1063T;ENSP00000267176:P1062T	ENSP00000267176:P1062T	P	-	1	0	SBNO1	122364153	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.668000	0.83897	2.618000	0.88619	0.591000	0.81541	CCA	SBNO1	-	NULL	ENSG00000139697		0.318	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	-	0	37	0	G	NM_018183		123798200	-1	tier1	-	no_errors	ENST00000420886	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	123798200	G	T	123798200	3	4	37	1	0	0	0	0	1	0	0	0	13907	1261	44	3	1030	3	SBNO1	12	123798200	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	9973456	123798200	10053695	192	9038											
NCOR2	9612	genome.wustl.edu	37	chr12	124824597	124824597	+	Frame_Shift_Del	DEL	T	T	-																															ccacagcggtgatgatacccTtcatgcctgtgttgtgaagc																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr12:124824597delT	ENST00000405201.1	-	37	5642	c.5642delA	c.(5641-5643)aagfs	p.K1881fs	NCOR2_ENST00000356219.3_Frame_Shift_Del_p.K1888fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.K1442fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.K1871fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.K1871fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.K1872fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1892					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GATGATACCCTTCATGCCTGT	0.667																																																	0													87	99	95					12																	124824597		2124	4227	6351	SO:0001589	frameshift_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5642delA	12.37:g.124824597delT	ENSP00000384018:p.Lys1881fs		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K1888fs	ENST00000405201.1	37	c.5663	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2		0	54	0	T	NM_006312		124824597	-1	tier1		no_errors	ENST00000356219	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-	-	124824597	T	-	124824597	7	5	37	1	0	1	0	1	0	0	0	0	10275	1609	56	0	1946	0	NCOR2	12	124824597	Frame_Shift_Del	DEL	T	TCGA-JY-A6FD-01A-11D-A33E-09	1026397	124824597	9027298	193	9039											
MIPEP	4285	genome.wustl.edu	37	chr13	24443488	24443488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaaacgtggaataccccaCcaactttgccagaagatctc	15	7	7	12	1	1	3	0	0	1	3	2	4	1	4	4	1	4	0	4	1	6	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr13:24443488C>A	ENST00000382172.3	-	7	984	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	296					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GAATACCCCACCAACTTTGCC	0.403																																																	0													102	104	103					13																	24443488		2203	4300	6503	SO:0001583	missense	0				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.886G>T	13.37:g.24443488C>A	ENSP00000371607:p.Val296Leu		Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.V296L	ENST00000382172.3	37	c.886	CCDS9303.1	13	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866546	0.51588	.	.	ENSG00000027001	ENST00000382172	T	0.04551	3.6	5.9	5.9	0.94986	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.06462	0.0166	L	0.35487	1.065	0.54753	D	0.999986	P	0.36086	0.536	B	0.41135	0.348	T	0.14364	-1.0475	10	0.02654	T	1	.	20.2664	0.98460	0.0:1.0:0.0:0.0	.	296	Q99797	MIPEP_HUMAN	L	296	ENSP00000371607:V296L	ENSP00000371607:V296L	V	-	1	0	MIPEP	23341488	1.000000	0.71417	0.390000	0.26220	0.303000	0.27691	7.222000	0.78025	2.786000	0.95864	0.561000	0.74099	GTG	MIPEP	-	pfam_Pept_M3A_M3B	ENSG00000027001		0.403	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPEP	HGNC	protein_coding	OTTHUMT00000044169.1	-	0	80	0	C			24443488	-1	tier1	-	no_errors	ENST00000382172	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	A	A	24443488	C	A	24443488	3	1	37	1	0	0	0	0	1	0	0	0	9630	507	18	3	1307	3	MIPEP	13	24443488	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		24443488	90726390	194	9040											
RB1	5925	genome.wustl.edu	37	chr13	49030486	49030486	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcactgttttataaaaaagGttagtagatgattattttca	14	18	6	3	0	2	2	2	1	0	1	2	2	2	2	0	1	0	3	0	1	7	9			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr13:49030486G>T	ENST00000267163.4	+	19	2098		c.e19+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TATAAAAAAGGTTAGTAGATG	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	26	Whole gene deletion(15)|Unknown(11)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CD941779|CI984663|CS071258	RB1	D|I|S							53	51	52					13																	49030486		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1960+1G>T	13.37:g.49030486G>T			A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	-	e19+1	ENST00000267163.4	37	c.1960+1	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560824	0.86335	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4214	0.99039	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47928487	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.835000	0.86780	2.820000	0.97059	0.655000	0.94253	.	RB1	-	-	ENSG00000139687		0.398	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0	30	0	G		Intron	49030486	1			no_errors	ENST00000267163	ensembl	human	known	74_37	splice_site	6.90	27	2	SNP	1.000	T	T	49030486	G	T	49030486	5	4	37	1	0	0	0	0	0	0	1	0	13143	1275	44	3	2035	3	RB1	13	49030486	Splice_Site	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	24586998	49030486	66139392	195	9041											
PCDH17	27253	genome.wustl.edu	37	chr13	58299063	58299063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccctcagcatcaagcagcCcaaccaaggcgtgcatcgag	11	5	9	16	2	2	0	2	0	0	0	4	1	3	0	4	1	5	3	4	1	3	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr13:58299063C>A	ENST00000377918.3	+	4	3141	c.3115C>A	c.(3115-3117)Cca>Aca	p.P1039T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1039					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCAAGCAGCCCAACCAAGGC	0.532																																					Melanoma(72;952 1291 1619 12849 33676)												0													86	86	86					13																	58299063		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.3115C>A	13.37:g.58299063C>A	ENSP00000367151:p.Pro1039Thr		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1039T	ENST00000377918.3	37	c.3115	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374291	0.61735	.	.	ENSG00000118946	ENST00000377918	T	0.50548	0.74	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58963	0.2159	L	0.43152	1.355	0.80722	D	1	D	0.62365	0.991	P	0.57244	0.816	T	0.49707	-0.8911	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1039	O14917	PCD17_HUMAN	T	1039	ENSP00000367151:P1039T	.	P	+	1	0	PCDH17	57197064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	CCA	PCDH17	-	NULL	ENSG00000118946		0.532	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	30	0	C	NM_001040429		58299063	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	22.22	13	4	SNP	1.000	A	A	58299063	C	A	58299063	3	1	37	1	0	0	0	0	1	0	0	0	11551	623	22	3	3129	3	PCDH17	13	58299063	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	9268577	58299063	56870815	196	9042											
GPR180	160897	genome.wustl.edu	37	chr13	95257761	95257761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctacagcaaagcagtcatGgttatagctgtagtgaaaaa	16	9	10	6	0	1	1	1	1	0	0	1	1	1	1	0	1	5	6	0	1	7	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr13:95257761G>T	ENST00000376958.4	+	2	287	c.262G>T	c.(262-264)Ggt>Tgt	p.G88C		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	88					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAGCAGTCATGGTTATAGCTG	0.373																																																	0													110	101	104					13																	95257761		2203	4300	6503	SO:0001583	missense	0			AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"intimal thickness related receptor"	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.262G>T	13.37:g.95257761G>T	ENSP00000366157:p.Gly88Cys		A8K1D5	Missense_Mutation	SNP	pfam_Intimal_thickness-rel_rcpt,pfam_TM_rcpt_euk	p.G88C	ENST00000376958.4	37	c.262	CCDS9472.1	13	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003225	0.35320	.	.	ENSG00000152749	ENST00000376958	T	0.46063	0.88	5.9	3.27	0.37495	.	1.030760	0.07629	N	0.928257	T	0.33089	0.0851	L	0.36672	1.1	0.09310	N	1	P	0.40660	0.726	B	0.32980	0.156	T	0.15150	-1.0447	10	0.49607	T	0.09	-5.8031	11.2563	0.49056	0.1962:0.0:0.8038:0.0	.	88	Q86V85	GP180_HUMAN	C	88	ENSP00000366157:G88C	ENSP00000366157:G88C	G	+	1	0	GPR180	94055762	0.100000	0.21855	0.000000	0.03702	0.913000	0.54294	2.795000	0.47861	0.414000	0.25790	0.650000	0.86243	GGT	GPR180	-	NULL	ENSG00000152749		0.373	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR180	HGNC	protein_coding	OTTHUMT00000045465.3	-	0	43	0	G	NM_180989		95257761	1	tier1	-	no_errors	ENST00000376958	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.005	T	T	95257761	G	T	95257761	3	4	37	1	0	0	0	0	1	0	0	0	6702	1348	47	3	268	3	GPR180	13	95257761	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	36958698	95257761	19912117	197	9043											
OR4K2	390431	genome.wustl.edu	37	chr14	20345037	20345037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttatgatctcaacaagtgGcataattgcgttgtcctgtt	9	16	8	8	1	1	1	1	1	1	0	3	1	2	1	1	1	2	3	1	1	4	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:20345037G>A	ENST00000298642.2	+	1	647	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAACAAGTGGCATAATTGCG	0.408																																																	0													328	327	327					14																	20345037		2203	4300	6503	SO:0001583	missense	0				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"GPCR / Class A : Olfactory receptors"	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.611G>A	14.37:g.20345037G>A	ENSP00000298642:p.Gly204Asp		B2RNK8|Q6IFA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G204D	ENST00000298642.2	37	c.611	CCDS32023.1	14	.	.	.	.	.	.	.	.	.	.	.	16.83	3.230089	0.58777	.	.	ENSG00000165762	ENST00000298642	T	0.38560	1.13	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.127072	0.35555	N	0.003130	T	0.73984	0.3657	H	0.95950	3.745	0.33745	D	0.61996	P	0.51933	0.949	D	0.64237	0.923	D	0.86605	0.1869	10	0.87932	D	0	.	15.826	0.78706	0.0:0.0:1.0:0.0	.	204	Q8NGD2	OR4K2_HUMAN	D	204	ENSP00000298642:G204D	ENSP00000298642:G204D	G	+	2	0	OR4K2	19414877	0.000000	0.05858	1.000000	0.80357	0.868000	0.49771	0.361000	0.20267	2.596000	0.87737	0.467000	0.42956	GGC	OR4K2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165762		0.408	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K2	HGNC	protein_coding	OTTHUMT00000409864.1	-	0	41	0	G			20345037	1	tier1	-	no_errors	ENST00000298642	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.999	A	A	20345037	G	A	20345037	3	1	37	1	0	0	0	0	1	0	0	0	11111	1203	42	3	613	3	OR4K2	14	20345037	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		20345037	87004503	198	9044											
RNASE2	6036	genome.wustl.edu	37	chr14	21424157	21424157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccttcttacaacttttgCtaacgtagttaatgtttgtg	8	20	6	7	1	1	0	0	0	1	0	2	0	2	0	1	0	4	4	1	0	5	9			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:21424157C>A	ENST00000304625.2	+	2	317	c.227C>A	c.(226-228)gCt>gAt	p.A76D		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	76					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		ACAACTTTTGCTAACGTAGTT	0.398																																																	0													90	82	85					14																	21424157		2203	4300	6503	SO:0001583	missense	0			X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"Ribonucleases, RNase A"	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.227C>A	14.37:g.21424157C>A	ENSP00000303276:p.Ala76Asp		Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.A76D	ENST00000304625.2	37	c.227	CCDS9561.1	14	.	.	.	.	.	.	.	.	.	.	c	12.56	1.976148	0.34848	.	.	ENSG00000169385	ENST00000304625	T	0.73152	-0.72	2.78	-1.91	0.07641	Ribonuclease A, domain (4);	0.340197	0.20800	U	0.085444	T	0.75547	0.3864	M	0.82716	2.605	0.09310	N	1	D	0.71674	0.998	D	0.63033	0.91	T	0.64820	-0.6317	10	0.52906	T	0.07	.	0.6166	0.00771	0.192:0.372:0.1888:0.2472	.	76	P10153	RNAS2_HUMAN	D	76	ENSP00000303276:A76D	ENSP00000303276:A76D	A	+	2	0	RNASE2	20493997	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.498000	0.06420	-0.432000	0.07297	0.455000	0.32223	GCT	RNASE2	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	ENSG00000169385		0.398	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE2	HGNC	protein_coding	OTTHUMT00000073799.2	-	0	75	0	C			21424157	1	tier1	-	no_errors	ENST00000304625	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.000	A	A	21424157	C	A	21424157	3	1	37	1	0	0	0	0	1	0	0	0	13449	797	28	3	229	3	RNASE2	14	21424157	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1079120	21424157	85925383	199	9045											
PRMT5	10419	genome.wustl.edu	37	chr14	23392262	23392262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagagtggttctttacctCagggtcacggtccttctccc	6	12	11	12	1	4	1	2	0	2	1	6	3	5	1	3	3	1	1	3	3	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:23392262C>T	ENST00000324366.8	-	13	1706	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.E451K|PRMT5_ENST00000397441.2_Missense_Mutation_p.E478K|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.E434K|PRMT5_ENST00000397440.4_Missense_Mutation_p.E324K|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.E389K	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	495	Beta barrel. {ECO:0000269|PubMed:23071334}.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCTTTACCTCAGGGTCACGG	0.493																																																	0													57	48	51					14																	23392262		2203	4300	6503	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1483G>A	14.37:g.23392262C>T	ENSP00000319169:p.Glu495Lys		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.E495K	ENST00000324366.8	37	c.1483	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	C	7.400	0.632484	0.14322	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000555454;ENST00000538452;ENST00000553897	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	M	0.74258	2.255	0.80722	D	1	P;P;P;P;P	0.42357	0.616;0.517;0.667;0.777;0.483	B;P;P;B;P	0.45232	0.343;0.474;0.474;0.406;0.474	T	0.10337	-1.0634	10	0.07990	T	0.79	-19.3234	16.1347	0.81475	0.0:1.0:0.0:0.0	.	451;434;324;495;478	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	K	495;478;324;434;94;389;451	ENSP00000319169:E495K;ENSP00000380583:E478K;ENSP00000380582:E324K;ENSP00000216350:E434K;ENSP00000451245:E94K;ENSP00000444915:E389K;ENSP00000452555:E451K	ENSP00000216350:E434K	E	-	1	0	PRMT5	22462102	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.999000	0.76283	2.465000	0.83290	0.561000	0.74099	GAG	PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.493	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	-	0	37	0	C			23392262	-1	tier1	-	no_errors	ENST00000324366	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	T	T	23392262	C	T	23392262	3	4	37	1	0	0	0	0	1	0	0	0	12581	835	29	3	450	3	PRMT5	14	23392262	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1968105	23392262	83957278	200	9046											
SLC25A21	89874	genome.wustl.edu	37	chr14	37154021	37154021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctccaggaactggttgaGgcccttgaatcctacttttg	7	14	9	11	0	1	2	0	2	1	0	4	3	3	3	3	3	2	1	3	3	3	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:37154021G>T	ENST00000331299.5	-	8	1228	c.713C>A	c.(712-714)cCt>cAt	p.P238H	SLC25A21_ENST00000555449.1_Missense_Mutation_p.P238H	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	238					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.P238H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AACTGGTTGAGGCCCTTGAAT	0.393																																																	1	Substitution - Missense(1)	lung(1)											165	162	163					14																	37154021		2203	4300	6503	SO:0001583	missense	0			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"Solute carriers"	14411	protein-coding gene	gene with protein product		607571	"solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.713C>A	14.37:g.37154021G>T	ENSP00000329452:p.Pro238His		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P238H	ENST00000331299.5	37	c.713	CCDS9663.1	14	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686453	0.68157	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.78707	-1.2;-1.2	5.67	5.67	0.87782	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	L	0.55213	1.73	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.84994	0.0896	10	0.49607	T	0.09	-6.1526	20.1095	0.97908	0.0:0.0:1.0:0.0	.	238	Q9BQT8	ODC_HUMAN	H	238	ENSP00000451873:P238H;ENSP00000329452:P238H	ENSP00000329452:P238H	P	-	2	0	SLC25A21	36223772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.286000	0.95898	2.831000	0.97527	0.655000	0.94253	CCT	SLC25A21	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000183032		0.393	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A21	HGNC	protein_coding	OTTHUMT00000276732.2	-	0	71	0	G	NM_030631		37154021	-1	tier1	-	no_errors	ENST00000331299	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	37154021	G	T	37154021	3	4	37	1	0	0	0	0	1	0	0	0	14529	1000	35	3	203	3	SLC25A21	14	37154021	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	13761759	37154021	70195519	201	9047											
DACT1	51339	genome.wustl.edu	37	chr14	59112640	59112640	+	Frame_Shift_Del	DEL	G	G	-																															caagccgaaagcaagagggtGcccctgccagagggctgccc																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:59112640delG	ENST00000335867.4	+	4	1323	c.1299delG	c.(1297-1299)gtgfs	p.V433fs	DACT1_ENST00000395153.3_Frame_Shift_Del_p.V396fs|DACT1_ENST00000556859.1_Frame_Shift_Del_p.V152fs|DACT1_ENST00000541264.2_Frame_Shift_Del_p.V152fs			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	433					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCAAGAGGGTGCCCCTGCCAG	0.587																																																	0													44	51	49					14																	59112640		2203	4299	6502	SO:0001589	frameshift_variant	0			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1299delG	14.37:g.59112640delG	ENSP00000337439:p.Val433fs		A8MYJ2|Q86TY0	Frame_Shift_Del	DEL	NULL	p.L435fs	ENST00000335867.4	37	c.1299	CCDS9736.1	14																																																																																			DACT1	-	NULL	ENSG00000165617		0.587	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1		0	65	0	G	NM_016651		59112640	1	tier1		no_errors	ENST00000335867	ensembl	human	known	74_37	frame_shift_del	44.44	25	20	DEL	0.325	-	-	59112640	G	-	59112640	7	5	37	1	0	1	0	1	0	0	0	0	4231	1306	46	0	1313	0	DACT1	14	59112640	Frame_Shift_Del	DEL	G	TCGA-JY-A6FD-01A-11D-A33E-09	21958619	59112640	48236900	202	9048	36	2									
DACT1	51339	genome.wustl.edu	37	chr14	59112641	59112641	+	Missense_Mutation	SNP	C	C	A																															aagccgaaagcaagagggtgCccctgccagagggctgcccc																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:59112641C>A	ENST00000335867.4	+	4	1324	c.1300C>A	c.(1300-1302)Ccc>Acc	p.P434T	DACT1_ENST00000395153.3_Missense_Mutation_p.P397T|DACT1_ENST00000556859.1_Missense_Mutation_p.P153T|DACT1_ENST00000541264.2_Missense_Mutation_p.P153T			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	434					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAAGAGGGTGCCCCTGCCAGA	0.592																																																	0													44	51	49					14																	59112641		2203	4299	6502	SO:0001583	missense	0			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"dapper homolog 1, antagonist of beta-catenin (xenopus)", "dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1300C>A	14.37:g.59112641C>A	ENSP00000337439:p.Pro434Thr		A8MYJ2|Q86TY0	Missense_Mutation	SNP	NULL	p.P434T	ENST00000335867.4	37	c.1300	CCDS9736.1	14	.	.	.	.	.	.	.	.	.	.	C	3.393	-0.123838	0.06795	.	.	ENSG00000165617	ENST00000556859;ENST00000395151;ENST00000395153;ENST00000335867;ENST00000541264	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.35	2.5	0.30297	.	0.364043	0.28140	N	0.016449	T	0.27765	0.0683	L	0.34521	1.04	0.09310	N	0.999997	P;P	0.35872	0.465;0.525	B;B	0.33521	0.124;0.165	T	0.09122	-1.0689	10	0.35671	T	0.21	-1.4995	8.1779	0.31294	0.0:0.7206:0.1347:0.1447	.	397;434	A8MYJ2;Q9NYF0	.;DACT1_HUMAN	T	153;153;397;434;153	ENSP00000451598:P153T;ENSP00000378581:P153T;ENSP00000378582:P397T;ENSP00000337439:P434T;ENSP00000442850:P153T	ENSP00000337439:P434T	P	+	1	0	DACT1	58182394	0.027000	0.19231	0.012000	0.15200	0.034000	0.12701	0.708000	0.25719	0.242000	0.21303	-0.251000	0.11542	CCC	DACT1	-	NULL	ENSG00000165617		0.592	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACT1	HGNC	protein_coding	OTTHUMT00000325515.1	-	0	64	0	C	NM_016651		59112641	1	tier1	-	no_errors	ENST00000335867	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.319	A	A	59112641	C	A	59112641	3	1	37	1	0	0	0	0	1	0	0	0	4231	739	26	3	1314	3	DACT1	14	59112641	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1	59112641	48236899	203	9049	36	2									
SYNE2	23224	genome.wustl.edu	37	chr14	64532290	64532290	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtgggagaaatggctGagtttgctggaagctgctaa	9	11	15	6	0	1	2	0	1	1	1	1	4	1	3	0	3	3	6	0	3	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:64532290G>T	ENST00000344113.4	+	51	10565	c.10353G>T	c.(10351-10353)ctG>ctT	p.L3451L	SYNE2_ENST00000554584.1_Silent_p.L3484L|SYNE2_ENST00000555002.1_Silent_p.L85L|SYNE2_ENST00000358025.3_Silent_p.L3451L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3451					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAAATGGCTGAGTTTGCTGG	0.443																																																	0													171	169	169					14																	64532290		1982	4172	6154	SO:0001819	synonymous_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10353G>T	14.37:g.64532290G>T			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L3451	ENST00000344113.4	37	c.10353	CCDS41963.1	14																																																																																			SYNE2	-	NULL	ENSG00000054654		0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	58	0	G	NM_182914		64532290	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.802	T	T	64532290	G	T	64532290	2	4	37	1	0	0	0	0	0	0	0	1	15493	1277	45	3		3	SYNE2	14	64532290	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5419649	64532290	42817250	204	9050											
ADCK1	57143	genome.wustl.edu	37	chr14	78399710	78399710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtcttggccctaatatgCtggctgttccctgctccact	4	13	10	14	1	1	0	0	0	1	0	3	0	3	0	3	3	2	4	3	3	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:78399710C>T	ENST00000238561.5	+	11	1647	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	ADCK1_ENST00000341211.5_Silent_p.C448C|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	523						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CCCTAATATGCTGGCTGTTCC	0.567																																																	0													144	132	136					14																	78399710		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1548C>T	14.37:g.78399710C>T			B3KUD5|Q6PD65|Q9UIE6	Silent	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.C516	ENST00000238561.5	37	c.1548	CCDS9869.1	14																																																																																			ADCK1	-	NULL	ENSG00000063761		0.567	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1		0	48	0	C	NM_020421		78399710	1			no_errors	ENST00000238561	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.989	T	T	78399710	C	T	78399710	2	4	37	1	0	0	0	0	0	0	0	1	288	805	28	3		3	ADCK1	14	78399710	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	13867420	78399710	28949830	205	9051											
SERPINA6	866	genome.wustl.edu	37	chr14	94770818	94770818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtggtcgaagatcatGatgatgaagggctggttgaa	12	10	16	3	1	1	6	1	5	0	1	2	7	1	6	0	3	0	2	0	3	4	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr14:94770818G>T	ENST00000341584.3	-	5	1301	c.1155C>A	c.(1153-1155)atC>atA	p.I385I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	385					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CGAAGATCATGATGATGAAGG	0.537																																																	0													203	162	176					14																	94770818		2203	4300	6503	SO:0001819	synonymous_variant	0			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.1155C>A	14.37:g.94770818G>T			A8K456|Q7Z2Q9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I385	ENST00000341584.3	37	c.1155	CCDS9924.1	14																																																																																			SERPINA6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000170099		0.537	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	HGNC	protein_coding	OTTHUMT00000413065.1	-	0	78	0	G	NM_001756		94770818	-1	tier1	-	no_errors	ENST00000341584	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.001	T	T	94770818	G	T	94770818	2	4	37	1	0	0	0	0	0	0	0	1	14138	1280	45	3		3	SERPINA6	14	94770818	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	16371108	94770818	12578722	206	9052											
FMN1	342184	genome.wustl.edu	37	chr15	33359062	33359062	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagagagagctgctccaGgagagtgggagtggccttcg	9	6	17	9	1	0	3	0	0	0	3	2	6	1	4	2	3	3	3	2	3	0	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:33359062G>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.L342M|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.L342M			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGCTGCTCCAGGAGAGTGGGA	0.552																																																	0													65	68	67					15																	33359062		2011	4168	6179	SO:0001627	intron_variant	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1787C>A	15.37:g.33359062G>T			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.L342M	ENST00000559047.1	37	c.1024		15	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288034	0.40494	.	.	ENSG00000248905	ENST00000334528	T	0.58060	0.36	5.68	3.59	0.41128	.	.	.	.	.	T	0.61800	0.2376	.	.	.	.	.	.	D;P	0.61697	0.99;0.936	P;P	0.59424	0.857;0.64	T	0.70117	-0.4960	7	0.54805	T	0.06	.	6.2921	0.21065	0.1919:0.0:0.6581:0.1499	.	342;342	Q68DA7-3;Q68DA7-5	.;.	M	342	ENSP00000333950:L342M	ENSP00000333950:L342M	L	-	1	2	FMN1	31146354	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.299000	0.33424	1.418000	0.47098	0.643000	0.83706	CTG	FMN1	-	NULL	ENSG00000248905		0.552	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1		0	36	0	G	NM_001103184		33359062	-1			no_errors	ENST00000334528	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	33359062	G	T	33359062	1	4	37	0	1	0	0	0	0	0	0	0	5971	991	35	3		3	FMN1	15	33359062	Intron	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		33359062	69172330	207	9053											
BUB1B	701	genome.wustl.edu	37	chr15	40504783	40504783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagattttgatcatttttgCagctgttatcaatatcaaga	13	16	7	5	0	3	3	3	1	0	2	3	4	3	3	0	0	2	3	0	0	5	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:40504783C>T	ENST00000287598.6	+	19	2664	c.2469C>T	c.(2467-2469)tgC>tgT	p.C823C	BUB1B_ENST00000412359.3_Silent_p.C837C	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	823	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATCATTTTTGCAGCTGTTATC	0.338			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																														yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)		M	0													118	113	115					15																	40504783		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"budding uninhibited by benzimidazoles 1 (yeast homolog), beta", "budding uninhibited by benzimidazoles 1 homolog beta (yeast)"			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2469C>T	15.37:g.40504783C>T			B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I	p.C837	ENST00000287598.6	37	c.2511	CCDS10053.1	15																																																																																			BUB1B	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	ENSG00000156970		0.338	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1B	HGNC	protein_coding	OTTHUMT00000252122.4		0	47	0	C			40504783	1			no_errors	ENST00000412359	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	40504783	C	T	40504783	2	4	37	1	0	0	0	0	0	0	0	1	1575	718	25	3		3	BUB1B	15	40504783	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	7145721	40504783	62026609	208	9054											
RPUSD2	27079	genome.wustl.edu	37	chr15	40861732	40861732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtggcgacgcgaaggttGagctgtcccccgggcccccg	4	6	16	15	5	0	1	0	1	0	0	1	3	1	1	4	4	1	2	4	4	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:40861732G>C	ENST00000315616.7	+	1	234	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	RPUSD2_ENST00000559271.1_Missense_Mutation_p.E66Q	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	66					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CGCGAAGGTTGAGCTGTCCCC	0.697																																																	0													20	20	20					15																	40861732		2203	4299	6502	SO:0001583	missense	0			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.196G>C	15.37:g.40861732G>C	ENSP00000323288:p.Glu66Gln		B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.E66Q	ENST00000315616.7	37	c.196	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261309	0.39995	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.35236	1.32	3.77	1.9	0.25705	.	0.263222	0.29853	N	0.011036	T	0.25606	0.0623	L	0.38531	1.155	0.09310	N	1	B	0.29085	0.232	B	0.27715	0.082	T	0.17077	-1.0381	10	0.51188	T	0.08	-7.1773	8.5647	0.33531	0.1854:0.0:0.8146:0.0	.	66	Q8IZ73	RUSD2_HUMAN	Q	66	ENSP00000323288:E66Q	ENSP00000323288:E66Q	E	+	1	0	RPUSD2	38649024	0.546000	0.26457	0.004000	0.12327	0.002000	0.02628	1.965000	0.40471	0.599000	0.29845	0.650000	0.86243	GAG	RPUSD2	-	NULL	ENSG00000166133		0.697	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	-	0	61	0	G	NM_152260		40861732	1	tier1	-	no_errors	ENST00000315616	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.015	C	C	40861732	G	C	40861732	3	2	37	1	0	0	0	0	1	0	0	0	13712	1291	45	5	198	5	RPUSD2	15	40861732	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	356949	40861732	61669660	209	9055											
SPTBN5	51332	genome.wustl.edu	37	chr15	42144894	42144894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcttttctaagtcctGgtgtctgtgcagcagcaact	8	12	10	11	0	2	0	0	0	2	0	3	0	3	0	1	1	6	5	1	1	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:42144894G>T	ENST00000320955.6	-	61	10614	c.10387C>A	c.(10387-10389)Cag>Aag	p.Q3463K	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3463					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTAAGTCCTGGTGTCTGTGC	0.602																																																	0													161	175	170					15																	42144894		2040	4195	6235	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10387C>A	15.37:g.42144894G>T	ENSP00000317790:p.Gln3463Lys			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q3463K	ENST00000320955.6	37	c.10387		15	.	.	.	.	.	.	.	.	.	.	.	12.29	1.893786	0.33442	.	.	ENSG00000137877	ENST00000320955	T	0.44482	0.92	4.73	-2.47	0.06442	.	1.149070	0.06488	N	0.734113	T	0.28433	0.0703	L	0.27053	0.805	0.09310	N	0.999999	B	0.15141	0.012	B	0.17433	0.018	T	0.29941	-0.9995	10	0.17832	T	0.49	.	10.7168	0.46017	0.0:0.5134:0.2177:0.2688	.	3463	Q9NRC6	SPTN5_HUMAN	K	3463	ENSP00000317790:Q3463K	ENSP00000317790:Q3463K	Q	-	1	0	SPTBN5	39932186	0.816000	0.29132	0.039000	0.18376	0.989000	0.77384	0.536000	0.23129	-0.960000	0.03613	0.655000	0.94253	CAG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.602	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	50	0	G	NM_016642		42144894	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.346	T	T	42144894	G	T	42144894	3	4	37	1	0	0	0	0	1	0	0	0	15169	1357	47	3	669	3	SPTBN5	15	42144894	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1283162	42144894	60386498	210	9056											
AP4E1	23431	genome.wustl.edu	37	chr15	51291343	51291343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttcaatatagtgtgcaGatagaaaaaccttttacaga	16	12	7	6	0	1	3	1	0	0	3	1	3	1	3	1	0	4	2	1	0	7	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:51291343G>T	ENST00000261842.5	+	19	3085	c.2979G>T	c.(2977-2979)caG>caT	p.Q993H	AP4E1_ENST00000560508.1_Missense_Mutation_p.Q918H|AP4E1_ENST00000561397.1_Intron	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	993					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATAGTGTGCAGATAGAAAAAC	0.358																																																	0													94	90	91					15																	51291343		2196	4294	6490	SO:0001583	missense	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2979G>T	15.37:g.51291343G>T	ENSP00000261842:p.Gln993His		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.Q993H	ENST00000261842.5	37	c.2979	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051664	0.55218	.	.	ENSG00000081014	ENST00000261842	T	0.18502	2.21	5.04	-0.61	0.11604	Coatomer, beta subunit, C-terminal (1);	0.487586	0.23347	N	0.049171	T	0.15392	0.0371	L	0.47716	1.5	0.31164	N	0.704008	P	0.49696	0.927	P	0.48488	0.579	T	0.13202	-1.0518	10	0.41790	T	0.15	-1.0291	3.5542	0.07858	0.2608:0.0:0.4486:0.2906	.	993	Q9UPM8	AP4E1_HUMAN	H	993	ENSP00000261842:Q993H	ENSP00000261842:Q993H	Q	+	3	2	AP4E1	49078635	0.980000	0.34600	0.986000	0.45419	0.996000	0.88848	0.178000	0.16820	-0.014000	0.14175	0.655000	0.94253	CAG	AP4E1	-	pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu	ENSG00000081014		0.358	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	-	0	32	0	G			51291343	1	tier1	-	no_errors	ENST00000261842	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.994	T	T	51291343	G	T	51291343	3	4	37	1	0	0	0	0	1	0	0	0	752	933	33	3	3053	3	AP4E1	15	51291343	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	9146449	51291343	51240049	211	9057											
MYO5A	4644	genome.wustl.edu	37	chr15	52676452	52676452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgaggggtgtgcgccctGaggaggtggctgaagttgga	6	9	21	5	1	0	3	0	3	0	0	0	5	0	5	1	6	1	2	1	6	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:52676452G>A	ENST00000399231.3	-	15	2063	c.1820C>T	c.(1819-1821)tCa>tTa	p.S607L	MYO5A_ENST00000356338.6_Missense_Mutation_p.S607L|MYO5A_ENST00000399233.2_Missense_Mutation_p.S607L|MYO5A_ENST00000553916.1_Missense_Mutation_p.S607L|MYO5A_ENST00000358212.6_Missense_Mutation_p.S607L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	607	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGTGCGCCCTGAGGAGGTGGC	0.473																																																	0													127	140	135					15																	52676452		2050	4195	6245	SO:0001583	missense	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1820C>T	15.37:g.52676452G>A	ENSP00000382177:p.Ser607Leu		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S607L	ENST00000399231.3	37	c.1820	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555919	0.65425	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	5.27	4.33	0.51752	Myosin head, motor domain (2);	0.216308	0.41396	D	0.000899	D	0.82486	0.5047	L	0.34521	1.04	0.19300	N	0.999973	B;P	0.42518	0.099;0.782	B;B	0.41174	0.065;0.349	T	0.75001	-0.3471	10	0.48119	T	0.1	.	15.6337	0.76933	0.0:0.1378:0.8622:0.0	.	607;607	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	L	607;141;607;607;607;237;607	ENSP00000382177:S607L;ENSP00000382179:S607L;ENSP00000348693:S607L;ENSP00000350945:S607L;ENSP00000451109:S607L	ENSP00000348693:S607L	S	-	2	0	MYO5A	50463744	0.995000	0.38212	0.799000	0.32177	0.677000	0.39632	3.108000	0.50337	1.163000	0.42636	0.650000	0.86243	TCA	MYO5A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197535		0.473	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	-	0	85	0	G	NM_000259		52676452	-1	tier1	-	no_errors	ENST00000358212	ensembl	human	known	74_37	missense	20.00	60	15	SNP	0.135	A	A	52676452	G	A	52676452	3	1	37	1	0	0	0	0	1	0	0	0	10116	1294	45	3	3855	3	MYO5A	15	52676452	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1385109	52676452	49854940	212	9058											
ADAM10	102	genome.wustl.edu	37	chr15	58925538	58925538	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagagtttacttttttCacatattcctccagagcttc	10	17	5	9	0	1	3	1	1	0	2	4	3	3	3	2	0	2	2	2	0	4	9			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:58925538C>A	ENST00000260408.3	-	9	1476	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	ADAM10_ENST00000396140.2_Nonsense_Mutation_p.E44*|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Nonsense_Mutation_p.E44*	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	345	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTACTTTTTTCACATATTCCT	0.358																																																	0													89	89	89					15																	58925538		2192	4292	6484	SO:0001587	stop_gained	0			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"ADAM metallopeptidase domain containing", "CD molecules"	188	protein-coding gene	gene with protein product		602192	"a disintegrin and metalloproteinase domain 10"			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1033G>T	15.37:g.58925538C>A	ENSP00000260408:p.Glu345*		B4DU28|Q10742|Q92650	Nonsense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E345*	ENST00000260408.3	37	c.1033	CCDS10167.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.090773	0.94149	.	.	ENSG00000137845	ENST00000260408;ENST00000402627;ENST00000396136;ENST00000396140	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-27.661	19.879	0.96888	0.0:1.0:0.0:0.0	.	.	.	.	X	345;44;164;44	.	ENSP00000260408:E345X	E	-	1	0	ADAM10	56712830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.731000	0.68554	2.695000	0.91970	0.655000	0.94253	GAA	ADAM10	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000137845		0.358	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM10	HGNC	protein_coding	OTTHUMT00000255880.2	-	0	48	0	C	NM_001110		58925538	-1	tier1	-	no_errors	ENST00000260408	ensembl	human	known	74_37	nonsense	23.53	39	12	SNP	1.000	A	A	58925538	C	A	58925538	4	1	37	1	0	0	0	0	0	1	0	0	234	835	29	3	1245	3	ADAM10	15	58925538	Nonsense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	6249086	58925538	43605854	213	9059											
TLN2	83660	genome.wustl.edu	37	chr15	62945485	62945485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaaaatggagaagttGaaggccaagctgcacacaga	17	4	14	6	0	0	4	0	1	0	3	0	7	0	5	1	3	2	3	1	3	5	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:62945485G>T	ENST00000561311.1	+	6	719	c.489G>T	c.(487-489)ttG>ttT	p.L163F	TLN2_ENST00000306829.6_Missense_Mutation_p.L163F			Q9Y4G6	TLN2_HUMAN	talin 2	163	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGAGAAGTTGAAGGCCAAGC	0.458																																																	0													108	87	94					15																	62945485		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.489G>T	15.37:g.62945485G>T	ENSP00000453508:p.Leu163Phe		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.L163F	ENST00000561311.1	37	c.489	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834962	0.71373	.	.	ENSG00000171914	ENST00000306829	T	0.73575	-0.76	5.95	2.56	0.30785	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.64402	D	0.000001	D	0.84197	0.5419	M	0.87682	2.9	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	T	0.82564	-0.0394	10	0.87932	D	0	-11.7437	4.7708	0.13155	0.1477:0.1216:0.606:0.1247	.	163	Q9Y4G6	TLN2_HUMAN	F	163	ENSP00000303476:L163F	ENSP00000303476:L163F	L	+	3	2	TLN2	60732777	0.978000	0.34361	0.998000	0.56505	0.998000	0.95712	0.146000	0.16180	0.826000	0.34661	0.655000	0.94253	TTG	TLN2	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000171914		0.458	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	42	0	G			62945485	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	T	T	62945485	G	T	62945485	3	4	37	1	0	0	0	0	1	0	0	0	15995	1281	45	3	503	3	TLN2	15	62945485	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	4019947	62945485	39585907	214	9060											
PARP16	54956	genome.wustl.edu	37	chr15	65553309	65553309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagtacttgggagggatGtctcccccttcactatgttt	8	13	10	10	1	2	0	1	0	1	0	3	3	2	2	2	2	1	2	2	2	3	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:65553309G>C	ENST00000444347.2	-	3	818	c.402C>G	c.(400-402)gaC>gaG	p.D134E	PARP16_ENST00000261888.6_Missense_Mutation_p.D249E			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	249	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TGGGAGGGATGTCTCCCCCTT	0.488																																					NSCLC(50;885 1163 13509 21242 41978)												0													209	177	188					15																	65553309		2201	4299	6500	SO:0001583	missense	0			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"Poly (ADP-ribose) polymerases"	26040	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 30"	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.402C>G	15.37:g.65553309G>C	ENSP00000396118:p.Asp134Glu		Q6PK64|Q9NX03	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.D249E	ENST00000444347.2	37	c.747		15	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856317	0.32791	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.12774	2.65;2.65	5.21	-3.6	0.04570	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.295956	0.41001	N	0.000978	T	0.04679	0.0127	N	0.12961	0.28	0.33327	D	0.56806	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.005;0.003;0.009	T	0.27468	-1.0073	10	0.20519	T	0.43	-13.1655	1.8317	0.03132	0.3948:0.2196:0.2746:0.111	.	249;134;249	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	E	249;134	ENSP00000261888:D249E;ENSP00000396118:D134E	ENSP00000261888:D249E	D	-	3	2	PARP16	63340362	0.005000	0.15991	0.839000	0.33178	0.981000	0.71138	-0.783000	0.04638	-0.277000	0.09193	0.655000	0.94253	GAC	PARP16	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000138617		0.488	PARP16-002	NOVEL	basic|exp_conf	protein_coding	PARP16	HGNC	protein_coding	OTTHUMT00000418174.1	-	0	56	0	G	NM_017851		65553309	-1	tier1	-	no_errors	ENST00000261888	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.533	C	C	65553309	G	C	65553309	3	2	37	1	0	0	0	0	1	0	0	0	11499	1368	48	5	232	5	PARP16	15	65553309	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2607824	65553309	36978083	215	9061											
KIF23	9493	genome.wustl.edu	37	chr15	69733338	69733338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtcagacagaaggcgaGggatgtactggactgaaggc	11	7	16	7	2	1	3	1	1	0	2	2	6	1	5	0	4	1	1	0	4	3	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:69733338G>T	ENST00000260363.4	+	18	2416	c.2299G>T	c.(2299-2301)Ggg>Tgg	p.G767W	KIF23_ENST00000395392.2_Missense_Mutation_p.G767W|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000559279.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	767					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CAGAAGGCGAGGGATGTACTG	0.468																																																	0													121	91	101					15																	69733338		2199	4298	6497	SO:0001583	missense	0			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2299G>T	15.37:g.69733338G>T	ENSP00000260363:p.Gly767Trp		Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G767W	ENST00000260363.4	37	c.2299	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190115	0.78789	.	.	ENSG00000137807	ENST00000260363;ENST00000395392	T;D	0.82526	-1.39;-1.62	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.81583	0.4853	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.65573	0.936	D	0.84722	0.0740	10	0.51188	T	0.08	.	16.2703	0.82612	0.0:0.0:1.0:0.0	.	767	Q02241	KIF23_HUMAN	W	767	ENSP00000260363:G767W;ENSP00000378790:G767W	ENSP00000260363:G767W	G	+	1	0	KIF23	67520392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.635000	0.91006	2.595000	0.87683	0.555000	0.69702	GGG	KIF23	-	NULL	ENSG00000137807		0.468	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		-	0	30	0	G			69733338	1	tier1	-	no_errors	ENST00000260363	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	69733338	G	T	69733338	3	4	37	1	0	0	0	0	1	0	0	0	8318	1000	35	3	2369	3	KIF23	15	69733338	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	4180029	69733338	32798054	216	9062											
RPP25	54913	genome.wustl.edu	37	chr15	75248376	75248376	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggctcgggttgcgatcgcttCgcggagccttctccagctgc	3	10	14	14	5	1	0	0	0	1	0	5	2	1	1	2	3	4	4	2	3	0	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:75248376C>G	ENST00000322177.5	-	1	1429	c.549G>C	c.(547-549)gcG>gcC	p.A183A	RPP25_ENST00000499788.2_Silent_p.A183A	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	183					tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			breast(1)|lung(1)	2						GCGATCGCTTCGCGGAGCCTT	0.687																																																	0													18	20	19					15																	75248376		2196	4291	6487	SO:0001819	synonymous_variant	0			AY034074	CCDS10274.1	15q24.2	2012-05-21	2007-06-26		ENSG00000178718	ENSG00000178718			30361	protein-coding gene	gene with protein product	"RNase P protein subunit p25"		"ribonuclease P 25kDa subunit"			12003489	Standard	NM_017793		Approved	FLJ20374	uc002azj.1	Q9BUL9	OTTHUMG00000142822	ENST00000322177.5:c.549G>C	15.37:g.75248376C>G			D3DW70|Q9NX88	Silent	SNP	pfam_DNA/RNA-bd_Alba-like	p.A183	ENST00000322177.5	37	c.549	CCDS10274.1	15																																																																																			RPP25	-	NULL	ENSG00000178718		0.687	RPP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP25	HGNC	protein_coding	OTTHUMT00000286413.1	-	0	48	0	C	NM_017793		75248376	-1	tier1	-	no_errors	ENST00000322177	ensembl	human	known	74_37	silent	20.59	26	7	SNP	0.098	G	G	75248376	C	G	75248376	2	3	37	1	0	0	0	0	0	0	0	1	13656	871	31	5		5	RPP25	15	75248376	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	5515038	75248376	27283016	217	9063											
RGMA	56963	genome.wustl.edu	37	chr15	93595305	93595305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaattattgtcgatgagcGgccaggcgccctgcaccttg	7	10	13	11	3	0	1	0	1	0	0	1	2	0	1	3	3	2	2	3	3	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:93595305G>A	ENST00000329082.7	-	3	834	c.563C>T	c.(562-564)cCg>cTg	p.P188L	RGMA_ENST00000555584.1_5'Flank|RGMA_ENST00000425933.2_Missense_Mutation_p.P172L|RGMA_ENST00000556658.1_Missense_Mutation_p.P79L|RGMA_ENST00000556087.1_Missense_Mutation_p.P172L|RGMA_ENST00000557301.1_Missense_Mutation_p.P196L|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000543599.1_Missense_Mutation_p.P172L|RGMA_ENST00000538818.1_Missense_Mutation_p.P79L|RGMA_ENST00000542321.2_Missense_Mutation_p.P172L	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	188					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTCGATGAGCGGCCAGGCGCC	0.647																																																	0													46	54	51					15																	93595305		2065	4187	6252	SO:0001583	missense	0			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"RGM domain family, member A"			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.563C>T	15.37:g.93595305G>A	ENSP00000330005:p.Pro188Leu		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.P188L	ENST00000329082.7	37	c.563	CCDS45357.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.094097	0.94149	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.99405	-5.84;-5.84;-5.84;-5.84;-5.84;-5.84	5.28	5.28	0.74379	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98457	1.0594	10	0.87932	D	0	-6.3682	18.491	0.90848	0.0:0.0:1.0:0.0	.	196;188	G3V518;Q96B86	.;RGMA_HUMAN	L	172;172;188;172;79;196	ENSP00000442498:P172L;ENSP00000404442:P172L;ENSP00000330005:P188L;ENSP00000440025:P172L;ENSP00000442546:P79L;ENSP00000452126:P196L	ENSP00000330005:P188L	P	-	2	0	RGMA	91396309	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.815000	0.99349	2.479000	0.83701	0.561000	0.74099	CCG	RGMA	-	pfam_RGM_N	ENSG00000182175		0.647	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	-	0	52	0	G	NM_020211		93595305	-1	tier1	-	no_errors	ENST00000329082	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	A	A	93595305	G	A	93595305	3	1	37	1	0	0	0	0	1	0	0	0	13325	1116	39	1	797	1	RGMA	15	93595305	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	18346929	93595305	8936087	218	9064											
MCTP2	55784	genome.wustl.edu	37	chr15	95013620	95013620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtttgattctggcagcaGccaccatcattttgtatttc	7	16	7	11	0	2	1	1	1	1	0	3	1	2	1	3	1	2	4	3	1	1	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr15:95013620G>A	ENST00000357742.4	+	20	2419	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	MCTP2_ENST00000451018.3_Missense_Mutation_p.A752T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	807					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGGCAGCAGCCACCATCAT	0.413																																																	0													194	185	188					15																	95013620		2197	4298	6495	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2419G>A	15.37:g.95013620G>A	ENSP00000350377:p.Ala807Thr		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A807T	ENST00000357742.4	37	c.2419	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673218	0.47781	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.71698	-0.59;-0.45	5.32	2.37	0.29283	Phosphoribosyltransferase C-terminal (1);	0.098007	0.64402	N	0.000001	D	0.83207	0.5204	M	0.86953	2.85	0.80722	D	1	D;B	0.76494	0.999;0.189	D;B	0.71414	0.973;0.253	T	0.82309	-0.0521	10	0.46703	T	0.11	.	11.0907	0.48115	0.2043:0.0:0.7957:0.0	.	752;807	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	T	752;807	ENSP00000395109:A752T;ENSP00000350377:A807T	ENSP00000350377:A807T	A	+	1	0	MCTP2	92814624	1.000000	0.71417	0.122000	0.21767	0.701000	0.40568	3.436000	0.52856	0.307000	0.22880	0.650000	0.86243	GCC	MCTP2	-	pfam_PRibTrfase_C	ENSG00000140563		0.413	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	-	0	40	0	G	NM_018349		95013620	1	tier1	-	no_errors	ENST00000357742	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.997	A	A	95013620	G	A	95013620	3	1	37	1	0	0	0	0	1	0	0	0	9439	971	34	3	2573	3	MCTP2	15	95013620	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1418315	95013620	7517772	219	9065											
SSTR5	6755	genome.wustl.edu	37	chr16	1129139	1129140	+	In_Frame_Ins	INS	-	-	TGT																															ggccgacgtcctgtacatgcINStggggctgcctttcctggcc																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:1129139_1129140insTGT	ENST00000293897.4	+	1	359_360	c.271_272insTGT	c.(271-273)ctg>cTGTtg	p.91_91L>LL	SSTR5_ENST00000562758.1_In_Frame_Ins_p.91_91L>LL|SSTR5_ENST00000397547.2_In_Frame_Ins_p.91_91L>LL|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	91					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCTGTACATGCTGGGGCTGCCT	0.619																																																	0																																										SO:0001652	inframe_insertion	0			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	Exception_encountered	16.37:g.1129139_1129140insTGT	ENSP00000293897:p.Leu91dup		P34988|Q541E0|Q9UJI5	In_Frame_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.92in_frame_insL	ENST00000293897.4	37	c.271_272	CCDS10429.1	16																																																																																			SSTR5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000162009		0.619	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR5	HGNC	protein_coding	OTTHUMT00000420836.1		0	49	0	-			1129140	1	tier1		no_errors	ENST00000293897	ensembl	human	known	74_37	in_frame_ins	20.45	35	9	INS	0.998:1.000	TGT	TGT	1129140	-	TGT	1129139	7	5	37	1	0	1	1	0	0	0	0	0	15248	796	28	0	273	0	SSTR5	16	1129139	In_Frame_Ins	INS	-	TCGA-JY-A6FD-01A-11D-A33E-09		1129139	89225614	220	9066											
UMOD	7369	genome.wustl.edu	37	chr16	20355414	20355414	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggagcatgcaaagttGattttgatgttgaggtcacg	10	12	15	4	1	1	3	1	3	0	0	1	4	1	4	0	3	2	5	0	3	2	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:20355414G>T	ENST00000570689.1	-	6	1409	c.1263C>A	c.(1261-1263)atC>atA	p.I421I	UMOD_ENST00000424589.1_Silent_p.I454I|UMOD_ENST00000396134.2_Silent_p.I454I|UMOD_ENST00000302509.4_Silent_p.I421I|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Silent_p.I421I|UMOD_ENST00000396138.4_Silent_p.I470I			P07911	UROM_HUMAN	uromodulin	421	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATGCAAAGTTGATTTTGATGT	0.542																																																	0													167	138	148					16																	20355414		2203	4300	6503	SO:0001819	synonymous_variant	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1263C>A	16.37:g.20355414G>T			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.I454	ENST00000570689.1	37	c.1362	CCDS10583.1	16																																																																																			UMOD	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000169344		0.542	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0	33	0	G			20355414	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.932	T	T	20355414	G	T	20355414	2	4	37	1	0	0	0	0	0	0	0	1	17028	1280	45	3		3	UMOD	16	20355414	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	19226275	20355414	69999339	221	9067											
KIF22	3835	genome.wustl.edu	37	chr16	29811283	29811283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattgcttggtccaccagaGgcaaagagagcccgaggccc	11	5	13	12	1	0	2	0	0	0	2	1	5	1	2	4	3	2	2	4	3	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:29811283G>T	ENST00000160827.4	+	8	1234	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	KIF22_ENST00000561482.1_Missense_Mutation_p.E330D|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_Missense_Mutation_p.E330D|KIF22_ENST00000400751.5_Missense_Mutation_p.E330D	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	398					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GTCCACCAGAGGCAAAGAGAG	0.597																																																	0													89	82	84					16																	29811283		2197	4300	6497	SO:0001583	missense	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"Kinesins"	6391	protein-coding gene	gene with protein product		603213	"kinesin-like 4"	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1194G>T	16.37:g.29811283G>T	ENSP00000160827:p.Glu398Asp		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E398D	ENST00000160827.4	37	c.1194	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677666	0.29783	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74421	-0.77;-0.84	5.41	2.24	0.28232	.	.	.	.	.	T	0.59252	0.2180	N	0.24115	0.695	0.80722	D	1	D;P	0.53151	0.958;0.925	B;B	0.44224	0.444;0.422	T	0.58864	-0.7561	9	0.62326	D	0.03	.	6.4778	0.22045	0.3017:0.0:0.6983:0.0	.	330;398	B7Z265;Q14807	.;KIF22_HUMAN	D	398;330	ENSP00000160827:E398D;ENSP00000383562:E330D	ENSP00000160827:E398D	E	+	3	2	KIF22	29718784	1.000000	0.71417	0.998000	0.56505	0.662000	0.39071	1.147000	0.31602	0.862000	0.35528	0.650000	0.86243	GAG	KIF22	-	NULL	ENSG00000079616		0.597	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	-	0	40	0	G			29811283	1	tier1	-	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.996	T	T	29811283	G	T	29811283	3	4	37	1	0	0	0	0	1	0	0	0	8317	991	35	3	1224	3	KIF22	16	29811283	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	9455869	29811283	60543470	222	9068											
ZNF646	9726	genome.wustl.edu	37	chr16	31088424	31088424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccaaccaccgccagaGccacacgctgggcatctacc	10	4	7	20	2	2	1	1	0	1	1	2	1	2	1	7	1	3	2	7	1	2	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:31088424G>T	ENST00000394979.2	+	1	1202	c.779G>T	c.(778-780)aGc>aTc	p.S260I	ZNF668_ENST00000564456.1_5'Flank|ZNF646_ENST00000300850.5_Missense_Mutation_p.S260I|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CACCGCCAGAGCCACACGCTG	0.592																																																	0													92	83	86					16																	31088424		2197	4300	6497	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.779G>T	16.37:g.31088424G>T	ENSP00000378429:p.Ser260Ile		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S260I	ENST00000394979.2	37	c.779		16	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593887	0.66219	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.52295	0.67;0.67	5.51	5.51	0.81932	.	.	.	.	.	T	0.53206	0.1782	N	0.16368	0.405	0.39859	D	0.973341	D	0.76494	0.999	D	0.91635	0.999	T	0.51148	-0.8742	9	0.22109	T	0.4	-24.2249	18.1705	0.89744	0.0:0.0:1.0:0.0	.	260	O15015-2	.	I	260;260;25	ENSP00000300850:S260I;ENSP00000378429:S260I	ENSP00000300850:S260I	S	+	2	0	ZNF646	30995925	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.561000	0.53770	2.583000	0.87209	0.655000	0.94253	AGC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.592	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2		0	60	0	G	NM_014699		31088424	1			no_errors	ENST00000300850	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	31088424	G	T	31088424	3	4	37	1	0	0	0	0	1	0	0	0	18110	971	34	3	781	3	ZNF646	16	31088424	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1277141	31088424	59266329	223	9069											
CHD9	80205	genome.wustl.edu	37	chr16	53243720	53243720	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttaaaagagaagacaaaAattgggtaagttggttaaga	20	9	11	1	0	0	3	0	0	0	3	0	4	0	3	0	2	0	4	0	2	8	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:53243720A>C	ENST00000398510.3	+	2	1866	c.1779A>C	c.(1777-1779)aaA>aaC	p.K593N	CHD9_ENST00000447540.1_Missense_Mutation_p.K593N|CHD9_ENST00000566029.1_Missense_Mutation_p.K593N|CHD9_ENST00000564845.1_Missense_Mutation_p.K593N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	593	Lys-rich.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAAGACAAAAATTGGGTAAG	0.308																																																	0													14	13	13					16																	53243720		1797	4064	5861	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.1779A>C	16.37:g.53243720A>C	ENSP00000381522:p.Lys593Asn		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K593N	ENST00000398510.3	37	c.1779		16	.	.	.	.	.	.	.	.	.	.	A	15.65	2.896874	0.52121	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	T;T	0.74315	-0.83;-0.83	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	D	0.83622	0.5294	M	0.71581	2.175	0.52099	D	0.999948	P;D;D;D;D	0.89917	0.745;0.97;0.993;1.0;0.996	B;P;P;D;P	0.83275	0.209;0.894;0.738;0.996;0.866	D	0.83894	0.0286	10	0.46703	T	0.11	-24.4743	10.4282	0.44391	0.9276:0.0:0.0724:0.0	.	119;593;593;593;593	B4DR07;Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;.;CHD9_HUMAN;.;.	N	593;593;119	ENSP00000396345:K593N;ENSP00000381522:K593N	ENSP00000219084:K119N	K	+	3	2	CHD9	51801221	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.734000	0.62043	2.202000	0.70862	0.533000	0.62120	AAA	CHD9	-	NULL	ENSG00000177200		0.308	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	-	0	12	0	A	NM_025134		53243720	1	tier1	-	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	C	C	53243720	A	C	53243720	3	2	37	1	0	0	0	0	1	0	0	0	3339	11	1	4	1785	4	CHD9	16	53243720	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	22155296	53243720	37111033	224	9070											
GNAO1	2775	genome.wustl.edu	37	chr16	56370660	56370660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggctgtttgacgtcggagGccagcgatctgaacgcaaga	10	7	14	10	4	1	3	0	2	1	1	2	5	1	4	1	3	2	3	1	3	2	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:56370660G>T	ENST00000262493.6	+	6	1457	c.611G>T	c.(610-612)gGc>gTc	p.G204V	GNAO1_ENST00000262494.7_Missense_Mutation_p.G204V	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	204					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GACGTCGGAGGCCAGCGATCT	0.602																																																	0													80	59	66					16																	56370660		2198	4300	6498	SO:0001583	missense	0				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.611G>T	16.37:g.56370660G>T	ENSP00000262493:p.Gly204Val		P29777|Q8TD72|Q9UMV4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.G204V	ENST00000262493.6	37	c.611	CCDS10756.1	16	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477108	0.84640	.	.	ENSG00000087258	ENST00000262493;ENST00000262494	D;D	0.99201	-5.55;-5.55	5.28	4.31	0.51392	.	0.054309	0.64402	D	0.000001	D	0.99670	0.9877	H	0.99682	4.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97075	0.9780	10	0.87932	D	0	.	15.8025	0.78463	0.0:0.1366:0.8634:0.0	.	204;204	P09471;P09471-2	GNAO_HUMAN;.	V	204	ENSP00000262493:G204V;ENSP00000262494:G204V	ENSP00000262493:G204V	G	+	2	0	GNAO1	54928161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.856000	0.99531	1.183000	0.42943	0.557000	0.71058	GGC	GNAO1	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000087258		0.602	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAO1	HGNC	protein_coding	OTTHUMT00000256981.2		0	53	0	G	NM_020988		56370660	1			no_errors	ENST00000262493	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	56370660	G	T	56370660	3	4	37	1	0	0	0	0	1	0	0	0	6534	1203	42	3	633	3	GNAO1	16	56370660	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3126940	56370660	33984093	225	9071											
CNOT1	23019	genome.wustl.edu	37	chr16	58577315	58577316	+	Intron	INS	-	-	A																															tcgtgttgagaatataacagINSaaaaaaaaaaaaacacacag																								rs192650861|rs74558612|rs201890659|rs5817153	byFrequency	TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:58577315_58577316insA	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.L1544fs|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		gaatataacagaaaaaaaaaaa	0.277																																																	0																																										SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+194->T	16.37:g.58577326_58577326dupA			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.L1543fs	ENST00000317147.5	37	c.4630_4629	CCDS10799.1	16																																																																																			CNOT1	-	NULL	ENSG00000125107		0.277	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3		0	39	0	-	NM_016284		58577316	-1	tier1		no_errors	ENST00000441024	ensembl	human	known	74_37	frame_shift_ins	6.52	43	3	INS	0.004:0.000	A	A	58577316	-	A	58577315	6	5	37	0	1	1	1	0	0	0	0	0	3624	933	33	0		0	CNOT1	16	58577315	Intron	INS	-	TCGA-JY-A6FD-01A-11D-A33E-09	2206655	58577315	31777438	226	9072											
CDH11	1009	genome.wustl.edu	37	chr16	65025827	65025827	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccatgttgggtagggctgTtctgatgatacctggacagg	7	12	15	7	0	1	2	0	2	1	0	2	3	2	3	2	4	1	4	2	4	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:65025827T>A	ENST00000268603.4	-	6	1270	c.655A>T	c.(655-657)Aca>Tca	p.T219S	CDH11_ENST00000566827.1_Missense_Mutation_p.T93S|CDH11_ENST00000394156.3_Missense_Mutation_p.T219S	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGTAGGGCTGTTCTGATGATA	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													201	135	157					16																	65025827		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.655A>T	16.37:g.65025827T>A	ENSP00000268603:p.Thr219Ser		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T219S	ENST00000268603.4	37	c.655	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271981	0.80469	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.56444	0.46;0.46	5.54	4.44	0.53790	Cadherin (4);Cadherin-like (1);	0.098277	0.64402	D	0.000001	T	0.69931	0.3166	M	0.79475	2.455	0.49130	D	0.999757	P;P	0.52842	0.879;0.956	P;D	0.66602	0.674;0.945	T	0.72401	-0.4305	10	0.87932	D	0	.	11.2271	0.48890	0.1372:0.0:0.0:0.8628	.	219;219	P55287-2;P55287	.;CAD11_HUMAN	S	219;219;202	ENSP00000268603:T219S;ENSP00000377711:T219S	ENSP00000268603:T219S	T	-	1	0	CDH11	63583328	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.111000	0.64628	0.907000	0.36646	0.528000	0.53228	ACA	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	70	0	T	NM_033664		65025827	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	21.92	57	16	SNP	0.997	A	A	65025827	T	A	65025827	3	1	37	1	0	0	0	0	1	0	0	0	3104	1725	60	5	1767	5	CDH11	16	65025827	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	6448512	65025827	25328926	227	9073											
NAE1	8883	genome.wustl.edu	37	chr16	66850909	66850909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcctctttttctttatacGttttaggtattcgtccattt	6	22	5	8	2	2	0	0	0	2	0	5	0	4	0	2	1	1	2	2	1	4	10			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:66850909G>T	ENST00000290810.3	-	10	804	c.707C>A	c.(706-708)aCg>aAg	p.T236K	NAE1_ENST00000379463.2_Missense_Mutation_p.T230K|NAE1_ENST00000394074.2_Missense_Mutation_p.T147K|NAE1_ENST00000564040.2_5'Flank|NAE1_ENST00000359087.4_Missense_Mutation_p.T239K			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	236					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTCTTTATACGTTTTAGGTAT	0.289																																																	0													70	72	71					16																	66850909		2198	4298	6496	SO:0001583	missense	0			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.707C>A	16.37:g.66850909G>T	ENSP00000290810:p.Thr236Lys		A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.T236K	ENST00000290810.3	37	c.707	CCDS10820.1	16	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920710	0.33908	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.47	3.48	0.39840	Molybdenum cofactor biosynthesis, MoeB (1);	0.217643	0.46442	D	0.000286	T	0.42359	0.1199	M	0.79614	2.46	0.25963	N	0.982596	B;B;B	0.24963	0.115;0.027;0.107	B;B;B	0.24269	0.052;0.009;0.035	T	0.46456	-0.9190	10	0.44086	T	0.13	-12.0515	1.9775	0.03419	0.1523:0.2498:0.4007:0.1971	.	239;236;230	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	K	239;236;230;147	ENSP00000351990:T239K;ENSP00000290810:T236K;ENSP00000368776:T230K;ENSP00000377637:T147K	ENSP00000290810:T236K	T	-	2	0	NAE1	65408410	0.918000	0.31147	0.637000	0.29366	0.849000	0.48306	1.318000	0.33643	0.654000	0.30846	0.650000	0.86243	ACG	NAE1	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000159593		0.289	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NAE1	HGNC	protein_coding	OTTHUMT00000268832.1	-	0	79	0	G	NM_003905		66850909	-1	tier1	-	no_errors	ENST00000290810	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.224	T	T	66850909	G	T	66850909	3	4	37	1	0	0	0	0	1	0	0	0	10177	1145	40	2	941	2	NAE1	16	66850909	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1825082	66850909	23503844	228	9074											
RLTPR	146206	genome.wustl.edu	37	chr16	67682606	67682606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagcccttttggatggcctCgcgctcaacacgcacctccg	7	8	10	16	4	1	1	1	0	0	1	3	2	2	2	4	2	2	2	4	2	1	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:67682606C>T	ENST00000334583.6	+	16	1786	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	RLTPR_ENST00000545661.1_Silent_p.L450L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	486					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGATGGCCTCGCGCTCAACA	0.672																																																	0													20	22	22					16																	67682606		2055	4229	6284	SO:0001819	synonymous_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1458C>T	16.37:g.67682606C>T			B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L486	ENST00000334583.6	37	c.1458	CCDS45513.1	16																																																																																			RLTPR	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000159753		0.672	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	-	0	32	0	C	NM_001013838		67682606	1	tier1	-	no_errors	ENST00000334583	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.653	T	T	67682606	C	T	67682606	2	4	37	1	0	0	0	0	0	0	0	1	13439	871	31	1		1	RLTPR	16	67682606	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	831697	67682606	22672147	229	9075											
DHODH	1723	genome.wustl.edu	37	chr16	72055078	72055078	+	Frame_Shift_Del	DEL	G	G	-																															aagacctcagtggacgccgcGgaggactacgcagaaggggt																								rs148523165	byFrequency	TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:72055078delG	ENST00000219240.4	+	5	594	c.573delG	c.(571-573)gcgfs	p.A191fs	DHODH_ENST00000572887.1_Frame_Shift_Del_p.A191fs|DHODH_ENST00000573922.1_Intron	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	191					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	TGGACGCCGCGGAGGACTACG	0.642																																																	0													33	44	40					16																	72055078		2069	4177	6246	SO:0001589	frameshift_variant	0				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.573delG	16.37:g.72055078delG	ENSP00000219240:p.Ala191fs		A8K8C8|Q6P176	Frame_Shift_Del	DEL	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	p.E192fs	ENST00000219240.4	37	c.573	CCDS42192.1	16																																																																																			DHODH	-	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	ENSG00000102967		0.642	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHODH	HGNC	protein_coding			0	64	0	G	NM_001361		72055078	1	tier1		no_errors	ENST00000219240	ensembl	human	known	74_37	frame_shift_del	24.07	41	13	DEL	0.284	-	-	72055078	G	-	72055078	7	5	37	1	0	1	0	1	0	0	0	0	4498	1103	39	0	591	0	DHODH	16	72055078	Frame_Shift_Del	DEL	G	TCGA-JY-A6FD-01A-11D-A33E-09	4372472	72055078	18299675	230	9076											
BCAR1	9564	genome.wustl.edu	37	chr16	75276907	75276907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgtgtcctgctccagcaCcgtcatgatgtcacccttgc	5	11	9	16	2	2	1	2	1	0	0	4	1	4	1	4	0	4	2	4	0	0	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:75276907C>T	ENST00000162330.5	-	2	220	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	BCAR1_ENST00000538440.2_Missense_Mutation_p.V32M|BCAR1_ENST00000393422.2_Missense_Mutation_p.V50M|BCAR1_ENST00000393420.6_Missense_Mutation_p.V32M|BCAR1_ENST00000535626.2_Missense_Mutation_p.V32M|BCAR1_ENST00000420641.3_Missense_Mutation_p.V50M|BCAR1_ENST00000546196.1_Missense_Mutation_p.V3M|BCAR1_ENST00000418647.3_Missense_Mutation_p.V78M|BCAR1_ENST00000542031.2_Missense_Mutation_p.V30M	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	32	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGCTCCAGCACCGTCATGATG	0.637																																																	0													42	42	42					16																	75276907		2197	4300	6497	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.94G>A	16.37:g.75276907C>T	ENSP00000162330:p.Val32Met		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.V78M	ENST00000162330.5	37	c.232	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910347	0.92107	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.63744	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.06	5.08	5.08	0.68730	Src homology-3 domain (5);Spectrin alpha chain, SH3 domain (1);	0.000000	0.64402	D	0.000003	D	0.83119	0.5185	M	0.90814	3.15	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.998;0.994;0.998;1.0;0.994;0.999	D	0.86809	0.1997	10	0.87932	D	0	-26.4579	17.4106	0.87484	0.0:1.0:0.0:0.0	.	50;32;78;30;32;50;32;32	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;.;BCAR1_HUMAN	M	32;50;50;32;78;32;32;30;3	ENSP00000162330:V32M;ENSP00000377074:V50M;ENSP00000392708:V50M;ENSP00000443841:V32M;ENSP00000391669:V78M;ENSP00000440370:V32M;ENSP00000377072:V32M;ENSP00000440415:V30M;ENSP00000442161:V3M	ENSP00000162330:V32M	V	-	1	0	BCAR1	73834408	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	7.445000	0.80570	2.537000	0.85549	0.561000	0.74099	GTG	BCAR1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	ENSG00000050820		0.637	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1		0	37	0	C	NM_014567		75276907	-1			no_errors	ENST00000418647	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	75276907	C	T	75276907	3	4	37	1	0	0	0	0	1	0	0	0	1349	507	18	3	2603	3	BCAR1	16	75276907	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	3221829	75276907	15077846	231	9077											
SLC7A5	8140	genome.wustl.edu	37	chr16	87885450	87885450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagttcacggccgtgaGcagcactgtggagacagagg	10	6	16	9	2	1	3	1	1	0	2	1	4	1	3	1	3	3	5	1	3	1	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr16:87885450G>T	ENST00000261622.4	-	2	609	c.544C>A	c.(544-546)Ctc>Atc	p.L182I	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	182					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	ACGGCCGTGAGCAGCACTGTG	0.687																																																	0													33	34	34					16																	87885450		2197	4300	6497	SO:0001583	missense	0			AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"CD molecules", "Solute carriers"	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.544C>A	16.37:g.87885450G>T	ENSP00000261622:p.Leu182Ile		Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.L182I	ENST00000261622.4	37	c.544	CCDS10964.1	16	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559985	0.86335	.	.	ENSG00000103257	ENST00000261622	D	0.89617	-2.54	5.31	5.31	0.75309	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	L	0.52759	1.655	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.92508	0.6014	10	0.46703	T	0.11	.	17.9637	0.89093	0.0:0.0:1.0:0.0	.	182	Q01650	LAT1_HUMAN	I	182	ENSP00000261622:L182I	ENSP00000261622:L182I	L	-	1	0	SLC7A5	86442951	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.592000	0.61027	2.467000	0.83353	0.655000	0.94253	CTC	SLC7A5	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000103257		0.687	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A5	HGNC	protein_coding	OTTHUMT00000269110.2		0	85	0	G	NM_003486		87885450	-1			no_errors	ENST00000261622	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	87885450	G	T	87885450	3	4	37	1	0	0	0	0	1	0	0	0	14745	971	34	3	1015	3	SLC7A5	16	87885450	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	12608543	87885450	2469303	232	9078											
OR1E1	8387	genome.wustl.edu	37	chr17	3301281	3301281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgccaccagggcgaGacagagcatggggctcatga	11	3	16	11	2	1	3	1	1	0	2	1	5	1	4	2	4	2	2	2	4	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:3301281G>T	ENST00000322608.2	-	1	423	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	142					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						ACCAGGGCGAGACAGAGCATG	0.567											OREG0007321	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													96	75	82					17																	3301281		2203	4300	6503	SO:0001583	missense	0			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"GPCR / Class A : Olfactory receptors"	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.424C>A	17.37:g.3301281G>T	ENSP00000313384:p.Leu142Ile	610	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L142I	ENST00000322608.2	37	c.424	CCDS11024.1	17	.	.	.	.	.	.	.	.	.	.	G	6.494	0.459355	0.12342	.	.	ENSG00000180016	ENST00000322608	T	0.37584	1.19	4.69	-5.25	0.02781	GPCR, rhodopsin-like superfamily (1);	1.121610	0.06689	N	0.769410	T	0.14270	0.0345	N	0.10685	0.025	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.19451	-1.0305	10	0.38643	T	0.18	.	1.7005	0.02871	0.3446:0.3312:0.2016:0.1226	.	142	P30953	OR1E1_HUMAN	I	142	ENSP00000313384:L142I	ENSP00000313384:L142I	L	-	1	0	OR1E1	3248031	0.000000	0.05858	0.032000	0.17829	0.495000	0.33615	-2.276000	0.01161	-0.567000	0.06046	0.591000	0.81541	CTC	OR1E1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180016		0.567	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1		0	87	0	G	NM_003553		3301281	-1			no_errors	ENST00000322608	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.000	T	T	3301281	G	T	3301281	3	4	37	1	0	0	0	0	1	0	0	0	10993	942	33	3	524	3	OR1E1	17	3301281	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		3301281	77893929	233	9079											
ATP2A3	489	genome.wustl.edu	37	chr17	3848001	3848001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggggtgaggcccacctcGttgtagtccagagccgagtc	8	7	15	11	2	0	2	0	1	0	1	3	3	1	2	4	3	1	2	4	3	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:3848001G>T	ENST00000352011.3	-	10	1338	c.1284C>A	c.(1282-1284)aaC>aaA	p.N428K	ATP2A3_ENST00000309890.7_Missense_Mutation_p.N428K|ATP2A3_ENST00000397035.3_Missense_Mutation_p.N428K|ATP2A3_ENST00000397043.3_Missense_Mutation_p.N428K|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397041.3_Missense_Mutation_p.N428K|ATP2A3_ENST00000359983.3_Missense_Mutation_p.N428K			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	428					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GGCCCACCTCGTTGTAGTCCA	0.647																																					GBM(32;29 774 15719 37967)												0													49	41	44					17																	3848001		2203	4298	6501	SO:0001583	missense	0				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.1284C>A	17.37:g.3848001G>T	ENSP00000301387:p.Asn428Lys		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.N428K	ENST00000352011.3	37	c.1284	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353573	0.41700	.	.	ENSG00000074370	ENST00000397043;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	3.94	-1.76	0.08006	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	L	0.55990	1.75	0.80722	D	1	D;D;D;P;D;P	0.89917	1.0;0.996;0.999;0.933;0.998;0.933	D;P;D;B;P;B	0.83275	0.996;0.903;0.942;0.382;0.903;0.292	T	0.83127	-0.0115	10	0.59425	D	0.04	.	11.0942	0.48134	0.6427:0.0:0.3573:0.0	.	428;428;428;428;428;428	Q93084-4;Q93084-2;Q93084;Q93084-6;G3XAE1;Q93084-3	.;.;AT2A3_HUMAN;.;.;.	K	428	ENSP00000380236:N428K;ENSP00000301387:N428K;ENSP00000353072:N428K;ENSP00000380234:N428K;ENSP00000312577:N428K;ENSP00000380229:N428K	ENSP00000312577:N428K	N	-	3	2	ATP2A3	3794750	0.001000	0.12720	0.971000	0.41717	0.350000	0.29205	-1.276000	0.02815	-0.561000	0.06094	-2.069000	0.00389	AAC	ATP2A3	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000074370		0.647	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	-	0	77	0	G	NM_174953		3848001	-1	tier1	-	no_errors	ENST00000359983	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.992	T	T	3848001	G	T	3848001	3	4	37	1	0	0	0	0	1	0	0	0	1139	1136	40	2	1974	2	ATP2A3	17	3848001	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	546720	3848001	77347209	234	9080											
TP53	7157	genome.wustl.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120	106	110					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	82	0	G	NM_000546		7577022	-1	tier1	rs121913344	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	24.00	38	12	SNP	1.000	A	A	7577022	G	A	7577022	4	1	37	1	0	0	0	0	0	1	0	0	16429	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3729021	7577022	73618188	235	9081											
TP53	7157	genome.wustl.edu	37	chr17	7578439	7578439	+	Frame_Shift_Del	DEL	T	T	-																															ccgtcatgtgctgtgactgcTtgtagatggccatggcgcgg																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:7578439delT	ENST00000269305.4	-	5	680	c.491delA	c.(490-492)aagfs	p.K164fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.K164fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K164fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.K164fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K164fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K164fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	164	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K164M(4)|p.K164fs*5(2)|p.K164fs*3(2)|p.K164T(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*17(1)|p.Y163fs*14(1)|p.K164R(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTGACTGCTTGTAGATGGC	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	27	Whole gene deletion(8)|Substitution - Missense(7)|Deletion - Frameshift(7)|Deletion - In frame(4)|Insertion - Frameshift(1)	oesophagus(5)|breast(4)|bone(4)|stomach(3)|central_nervous_system(3)|lung(3)|large_intestine(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)											53	54	54					17																	7578439		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.491delA	17.37:g.7578439delT	ENSP00000269305:p.Lys164fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K164fs	ENST00000269305.4	37	c.491	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	37	0	T	NM_000546		7578439	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	37.93	18	11	DEL	1.000	-	-	7578439	T	-	7578439	7	5	37	1	0	1	0	1	0	0	0	0	16429	1609	56	0	807	0	TP53	17	7578439	Frame_Shift_Del	DEL	T	TCGA-JY-A6FD-01A-11D-A33E-09	1417	7578439	73616771	236	9082											
SUPT6H	6830	genome.wustl.edu	37	chr17	27002162	27002162	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccagaggaggaggaaGaagatgatgaggagtcaggt	13	6	16	6	0	1	5	1	2	0	3	3	9	3	9	2	5	0	0	2	5	2	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:27002162G>T	ENST00000314616.6	+	5	803	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.E174*|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	174	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGAGGAGGAAGAAGATGATGA	0.522																																																	0													66	70	69					17																	27002162		2203	4300	6503	SO:0001587	stop_gained	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.520G>T	17.37:g.27002162G>T	ENSP00000319104:p.Glu174*		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Nonsense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E174*	ENST00000314616.6	37	c.520	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.854401	0.97889	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-12.4494	20.0706	0.97721	0.0:0.0:1.0:0.0	.	.	.	.	X	174	.	ENSP00000319104:E174X	E	+	1	0	SUPT6H	24026289	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.010000	0.93611	2.744000	0.94065	0.655000	0.94253	GAA	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.522	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2		0	11	0	G	NM_003170		27002162	1			no_errors	ENST00000314616	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	T	T	27002162	G	T	27002162	4	4	37	1	0	0	0	0	0	1	0	0	15447	943	33	3	534	3	SUPT6H	17	27002162	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	19423723	27002162	54193048	237	9083											
GPR179	440435	genome.wustl.edu	37	chr17	36484015	36484015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacagatcttggctttttCactggtagcagcttcctgtg	6	14	12	9	0	2	1	1	0	1	1	3	2	3	2	1	3	2	4	1	3	1	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:36484015C>T	ENST00000342292.4	-	11	5457	c.5437G>A	c.(5437-5439)Gaa>Aaa	p.E1813K	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1813					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGCTTTTTCACTGGTAGCA	0.532																																																	0													158	149	152					17																	36484015		1963	4152	6115	SO:0001583	missense	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5437G>A	17.37:g.36484015C>T	ENSP00000345060:p.Glu1813Lys			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.E1813K	ENST00000342292.4	37	c.5437	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820554	0.50633	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	4.7	2.72	0.32119	.	0.616301	0.14415	N	0.321015	T	0.38427	0.1040	M	0.61703	1.905	0.09310	N	1	P	0.42203	0.773	B	0.31290	0.127	T	0.24119	-1.0169	10	0.54805	T	0.06	-1.7419	8.6863	0.34240	0.0:0.8148:0.0:0.1852	.	1813	Q6PRD1	GP179_HUMAN	K	1813	ENSP00000345060:E1813K	ENSP00000345060:E1813K	E	-	1	0	GPR179	33737541	0.000000	0.05858	0.960000	0.40013	0.935000	0.57460	0.067000	0.14510	0.599000	0.29845	0.655000	0.94253	GAA	GPR179	-	NULL	ENSG00000188888		0.532	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2		0	11	0	C			36484015	-1			no_errors	ENST00000342292	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.073	T	T	36484015	C	T	36484015	3	4	37	1	0	0	0	0	1	0	0	0	6700	835	29	3	1670	3	GPR179	17	36484015	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	9481853	36484015	44711195	238	9084											
KRT222	125113	genome.wustl.edu	37	chr17	38821286	38821286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgagagcaccgtctctatCtgatttctggtgaggatctt	7	15	11	8	1	4	3	0	3	4	1	5	5	4	4	1	2	1	2	1	2	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:38821286C>G	ENST00000476049.1	-	1	107	c.66G>C	c.(64-66)caG>caC	p.Q22H	KRT222_ENST00000394052.3_Missense_Mutation_p.Q22H|AC073508.1_ENST00000607244.1_RNA			Q8N1A0	KT222_HUMAN	keratin 222	22						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CCGTCTCTATCTGATTTCTGG	0.463																																																	0													316	282	294					17																	38821286		2203	4300	6503	SO:0001583	missense	0			AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"-"	28695	protein-coding gene	gene with protein product			"keratin 222 pseudogene"	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.66G>C	17.37:g.38821286C>G	ENSP00000463483:p.Gln22His		Q7Z368	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.Q22H	ENST00000476049.1	37	c.66	CCDS11371.1	17	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015303	0.54468	.	.	ENSG00000213424	ENST00000394052	D	0.89270	-2.49	5.74	5.74	0.90152	Filament (1);	0.479877	0.18409	U	0.142111	D	0.85483	0.5707	L	0.41906	1.305	0.33212	D	0.553514	B	0.32543	0.375	B	0.32864	0.154	D	0.88814	0.3294	10	0.59425	D	0.04	-12.3743	15.4031	0.74858	0.0:0.8614:0.1386:0.0	.	22	Q8N1A0	KT222_HUMAN	H	22	ENSP00000377616:Q22H	ENSP00000377616:Q22H	Q	-	3	2	KRT222	36074812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.064000	0.57506	2.709000	0.92574	0.655000	0.94253	CAG	KRT222	-	pfam_IF	ENSG00000213424		0.463	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KRT222	HGNC	protein_coding	OTTHUMT00000447539.1		0	41	0	C	NM_152349		38821286	-1			no_errors	ENST00000394052	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	G	G	38821286	C	G	38821286	3	3	37	1	0	0	0	0	1	0	0	0	8486	912	32	5	845	5	KRT222	17	38821286	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	2337271	38821286	42373924	239	9085											
NAGS	162417	genome.wustl.edu	37	chr17	42084980	42084980	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaacgccgccgccattctGaccatggagcccgtcctggg	7	7	11	16	4	1	1	0	1	1	0	2	2	2	2	6	2	3	0	6	2	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:42084980G>C	ENST00000293404.3	+	6	1408	c.1290G>C	c.(1288-1290)ctG>ctC	p.L430L		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	430	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.		L -> P (in NAGSD; markedly decreases activity). {ECO:0000269|PubMed:12754705, ECO:0000269|PubMed:15878741}.		arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCGCCATTCTGACCATGGAGC	0.692											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													13	16	15					17																	42084980		2194	4283	6477	SO:0001819	synonymous_variant	0			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1290G>C	17.37:g.42084980G>C		906	B2RAZ9|Q8IWR4	Silent	SNP	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	p.L430	ENST00000293404.3	37	c.1290	CCDS11473.1	17																																																																																			NAGS	-	pfam_DUF619,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	ENSG00000161653		0.692	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGS	HGNC	protein_coding	OTTHUMT00000457660.1	-	0	24	0	G	NM_153006		42084980	1	tier1	-	no_errors	ENST00000293404	ensembl	human	known	74_37	silent	33.33	14	7	SNP	1.000	C	C	42084980	G	C	42084980	2	2	37	1	0	0	0	0	0	0	0	1	10183	1277	45	5		5	NAGS	17	42084980	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3263694	42084980	39110230	240	9086											
PPM1D	8493	genome.wustl.edu	37	chr17	58700916	58700916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatgacgggtcttcctagCacatcagggacaactgccag	11	8	10	12	1	2	1	1	1	1	0	3	2	3	2	2	2	3	1	2	2	3	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:58700916C>T	ENST00000305921.3	+	2	739	c.507C>T	c.(505-507)agC>agT	p.S169S		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	169	PP2C-like.				G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCTTCCTAGCACATCAGGGA	0.433																																																	0													197	189	192					17																	58700916		2203	4300	6503	SO:0001819	synonymous_variant	0			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.507C>T	17.37:g.58700916C>T			Q53XP4|Q6P991|Q8IVR6	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.S169	ENST00000305921.3	37	c.507	CCDS11625.1	17																																																																																			PPM1D	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000170836		0.433	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1	-	0	53	0	C	NM_003620		58700916	1	tier1	-	no_errors	ENST00000305921	ensembl	human	known	74_37	silent	25.71	51	18	SNP	1.000	T	T	58700916	C	T	58700916	2	4	37	1	0	0	0	0	0	0	0	1	12379	709	25	3		3	PPM1D	17	58700916	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	16615936	58700916	22494294	241	9087											
DNAI2	64446	genome.wustl.edu	37	chr17	72301522	72301522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacttcctgacggttggCgactggacagcccgcatttg	9	9	12	11	3	0	2	0	1	0	1	1	4	1	3	2	3	2	2	2	3	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:72301522C>T	ENST00000311014.6	+	9	1219	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	DNAI2_ENST00000582036.1_Silent_p.G384G|AC103809.1_ENST00000516976.1_RNA|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000446837.2_Silent_p.G384G|DNAI2_ENST00000307504.5_Silent_p.G241G|DNAI2_ENST00000579490.1_Silent_p.G441G			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	384					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGACGGTTGGCGACTGGACAG	0.577									Kartagener syndrome																																								0													66	64	64					17																	72301522		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"Axonemal dyneins", "WD repeat domain containing"	18744	protein-coding gene	gene with protein product	"dynein intermediate chain 2"	605483	"dynein, axonemal, intermediate polypeptide 2"			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1152C>T	17.37:g.72301522C>T			C9J0S6|Q8IUW4|Q9H179|Q9NT53	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G384	ENST00000311014.6	37	c.1152	CCDS11697.1	17																																																																																			DNAI2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000171595		0.577	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DNAI2	HGNC	protein_coding	OTTHUMT00000442537.1	-	0	106	0	C	NM_023036		72301522	1	tier1	-	no_errors	ENST00000311014	ensembl	human	known	74_37	silent	28.57	40	16	SNP	0.007	T	T	72301522	C	T	72301522	2	4	37	1	0	0	0	0	0	0	0	1	4624	755	27	1		1	DNAI2	17	72301522	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	13600606	72301522	8893688	242	9088											
CD300A	11314	genome.wustl.edu	37	chr17	72462866	72462866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgccttgggctctgttGcttctctgggtcccaggtga	2	14	14	11	0	2	1	0	1	2	0	4	1	3	1	2	4	2	4	2	4	0	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:72462866G>T	ENST00000360141.3	+	1	312	c.24G>T	c.(22-24)ttG>ttT	p.L8F	CD300A_ENST00000310828.5_Missense_Mutation_p.L8F|CD300A_ENST00000577511.1_5'Flank|CD300A_ENST00000361933.3_Missense_Mutation_p.L8F|CD300A_ENST00000392625.3_Missense_Mutation_p.L8F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	8					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGGCTCTGTTGCTTCTCTGGG	0.657																																																	0													110	71	84					17																	72462866		2201	4298	6499	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19319	protein-coding gene	gene with protein product		606790	"CD300a antigen"			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.24G>T	17.37:g.72462866G>T	ENSP00000353259:p.Leu8Phe		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L8F	ENST00000360141.3	37	c.24	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	g	14.88	2.668563	0.47677	.	.	ENSG00000167851	ENST00000361933;ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.59638	3.29;0.25	4.84	3.81	0.43845	.	0.722105	0.10721	U	0.641771	T	0.73410	0.3583	M	0.66378	2.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.984	T	0.71869	-0.4462	10	0.72032	D	0.01	.	11.626	0.51145	0.0:0.1803:0.8197:0.0	.	8;8;8;8	Q9UGN4-3;Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;.;CLM8_HUMAN	F	8	ENSP00000353259:L8F;ENSP00000308188:L8F	ENSP00000308188:L8F	L	+	3	2	CD300A	69974461	0.990000	0.36364	1.000000	0.80357	0.845000	0.48019	0.796000	0.26986	2.391000	0.81399	0.651000	0.88453	TTG	CD300A	-	NULL	ENSG00000167851		0.657	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	-	0	76	0	G	NM_007261		72462866	1	tier1	-	no_errors	ENST00000360141	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	72462866	G	T	72462866	3	4	37	1	0	0	0	0	1	0	0	0	3003	1310	46	3	26	3	CD300A	17	72462866	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	161344	72462866	8732344	243	9089											
ENGASE	64772	genome.wustl.edu	37	chr17	77082217	77082217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggagggatgagtgatgactCtccgggcagggagctgccga	8	6	19	8	2	1	3	0	3	1	0	2	7	1	6	2	4	2	2	2	4	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:77082217C>G	ENST00000579016.1	+	14	2018	c.2018C>G	c.(2017-2019)tCt>tGt	p.S673C		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	673						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGTGATGACTCTCCGGGCAGG	0.627																																																	0													51	61	57					17																	77082217		2102	4220	6322	SO:0001583	missense	0			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase", "Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.2018C>G	17.37:g.77082217C>G	ENSP00000462333:p.Ser673Cys		Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.S673C	ENST00000579016.1	37	c.2018	CCDS42394.1	17	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404648	0.42613	.	.	ENSG00000167280	ENST00000545583	.	.	.	3.85	2.88	0.33553	.	0.758616	0.12039	N	0.505232	T	0.49098	0.1537	L	0.60455	1.87	0.40030	D	0.975527	P	0.47545	0.897	B	0.43916	0.436	T	0.44967	-0.9293	9	0.40728	T	0.16	-11.2151	7.1576	0.25647	0.0:0.8754:0.0:0.1246	.	673	Q8NFI3	ENASE_HUMAN	C	673	.	ENSP00000438577:S673C	S	+	2	0	ENGASE	74593812	0.018000	0.18449	0.002000	0.10522	0.017000	0.09413	3.626000	0.54245	0.822000	0.34565	-0.373000	0.07131	TCT	ENGASE	-	NULL	ENSG00000167280		0.627	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	-	0	50	0	C	NM_022759		77082217	1	tier1	-	no_errors	ENST00000579016	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.042	G	G	77082217	C	G	77082217	3	3	37	1	0	0	0	0	1	0	0	0	5134	913	32	5	2072	5	ENGASE	17	77082217	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	4619351	77082217	4112993	244	9090											
NPLOC4	55666	genome.wustl.edu	37	chr17	79564312	79564312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaccctttcgggtatcttCtgagacgaggtctgtaaata	9	13	11	8	2	3	1	0	1	3	1	4	3	3	1	1	3	1	3	1	3	5	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr17:79564312C>T	ENST00000331134.6	-	10	1167	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	NPLOC4_ENST00000374747.5_Missense_Mutation_p.E318K|NPLOC4_ENST00000539314.1_Missense_Mutation_p.E157K	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	318					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGGTATCTTCTGAGACGAGG	0.488																																																	0													118	117	117					17																	79564312		1981	4154	6135	SO:0001583	missense	0			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.952G>A	17.37:g.79564312C>T	ENSP00000331487:p.Glu318Lys		Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.E318K	ENST00000331134.6	37	c.952	CCDS45812.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.592163	0.96590	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.54	5.54	0.83059	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	T	0.74839	0.3769	L	0.54323	1.7	0.80722	D	1	B;D;D	0.67145	0.143;0.996;0.996	B;D;D	0.69654	0.201;0.94;0.965	T	0.68108	-0.5496	9	0.23302	T	0.38	-22.1502	19.9063	0.97008	0.0:1.0:0.0:0.0	.	157;318;318	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	K	318;317;157	.	ENSP00000331487:E318K	E	-	1	0	NPLOC4	77174750	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.314000	0.78988	2.774000	0.95407	0.644000	0.83932	GAA	NPLOC4	-	pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4	ENSG00000182446		0.488	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	HGNC	protein_coding	OTTHUMT00000440140.1	-	0	51	0	C			79564312	-1	tier1	-	no_errors	ENST00000374747	ensembl	human	known	74_37	missense	18.87	43	10	SNP	1.000	T	T	79564312	C	T	79564312	3	4	37	1	0	0	0	0	1	0	0	0	10625	922	32	3	906	3	NPLOC4	17	79564312	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	2482095	79564312	1630898	245	9091											
TXNDC2	84203	genome.wustl.edu	37	chr18	9886734	9886734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatgcctcacaggagggCgatgacctacccaagtcctc	9	8	10	14	1	2	2	1	2	1	0	4	4	3	3	4	2	2	0	4	2	2	1	rs144698163		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr18:9886734C>T	ENST00000306084.6	+	2	457	c.258C>T	c.(256-258)ggC>ggT	p.G86G	TXNDC2_ENST00000357775.5_Silent_p.G19G|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.G19G	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	86					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.G19G(1)|p.G86G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CACAGGAGGGCGATGACCTAC	0.562													C|||	1	0.000199681	0	0	5008	,	,		17261	0		0.001	False		,,,				2504	0																2	Substitution - coding silent(2)	lung(2)						C	,	1,4405	2.1+/-5.4	0,1,2202	155	101	119		258,57	-6.6	0	18	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TXNDC2	NM_001098529.1,NM_032243.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	86/554,19/487	9886734	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.258C>T	18.37:g.9886734C>T			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.G86	ENST00000306084.6	37	c.258	CCDS42414.1	18																																																																																			TXNDC2	-	NULL	ENSG00000168454		0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1		0	73	0	C			9886734	1			no_errors	ENST00000306084	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.000	T	T	9886734	C	T	9886734	2	4	37	1	0	0	0	0	0	0	0	1	16846	755	27	1		1	TXNDC2	18	9886734	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		9886734	68190514	246	9092											
AFG3L2	10939	genome.wustl.edu	37	chr18	12353077	12353077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagttgcctcttcctctCttccttcccaccgcatcgat	6	13	4	18	2	2	0	0	0	2	0	7	1	5	0	6	0	1	2	6	0	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr18:12353077C>T	ENST00000269143.3	-	10	1476	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	415					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.K415N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTCTTCCTCTCTTCCTTCCCA	0.502																																																	1	Substitution - Missense(1)	lung(1)											218	166	184					18																	12353077		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1245G>A	18.37:g.12353077C>T			Q6P1L0	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.K415	ENST00000269143.3	37	c.1245	CCDS11859.1	18																																																																																			AFG3L2	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	ENSG00000141385		0.502	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0	25	0	C	NM_006796		12353077	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	silent	17.07	34	7	SNP	1.000	T	T	12353077	C	T	12353077	2	4	37	1	0	0	0	0	0	0	0	1	360	912	32	3		3	AFG3L2	18	12353077	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	2466343	12353077	65724171	247	9093											
C18orf34	374864	genome.wustl.edu	37	chr18	30803178	30803178	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgatcaattatattattAagcatctagaagacattcag	15	15	5	6	0	4	3	2	1	2	2	4	3	4	3	0	0	1	1	0	0	7	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr18:30803178A>C	ENST00000383096.3	-	18	2006	c.1824T>G	c.(1822-1824)ctT>ctG	p.L608L	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000579947.1_Silent_p.L608L|CCDC178_ENST00000583930.1_Silent_p.L608L|CCDC178_ENST00000402325.1_Silent_p.L608L|CCDC178_ENST00000403303.1_Silent_p.L608L|CCDC178_ENST00000406524.2_Silent_p.L608L			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	608																	TTATATTATTAAGCATCTAGA	0.313																																																	0													65	60	62					18																	30803178		1807	4057	5864	SO:0001819	synonymous_variant	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.1824T>G	18.37:g.30803178A>C			A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	NULL	p.L608	ENST00000383096.3	37	c.1824	CCDS42424.1	18																																																																																			CCDC178	-	NULL	ENSG00000166960		0.313	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	-	0	36	0	A	NM_198995		30803178	-1	tier1	-	no_errors	ENST00000406524	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.001	C	C	30803178	A	C	30803178	2	2	37	1	0	0	0	0	0	0	0	1	1909	349	13	4		4	C18orf34	18	30803178	Silent	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	18450101	30803178	47274070	248	9094											
FBXO15	201456	genome.wustl.edu	37	chr18	71803093	71803093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatcttcagcaagatttctGaaggcattctgcaaaaacag	15	11	7	8	0	4	2	1	1	3	1	4	2	4	2	0	1	3	3	0	1	5	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr18:71803093G>A	ENST00000419743.2	-	3	315	c.236C>T	c.(235-237)tCa>tTa	p.S79L	FBXO15_ENST00000269500.5_Missense_Mutation_p.S3L	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	79	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CAAGATTTCTGAAGGCATTCT	0.413																																																	0													55	55	55					18																	71803093		2203	4300	6503	SO:0001583	missense	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.236C>T	18.37:g.71803093G>A	ENSP00000393154:p.Ser79Leu		B3KST3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.S79L	ENST00000419743.2	37	c.236	CCDS45884.1	18	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558963	0.45590	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.42513	0.97;0.97	5.7	5.7	0.88788	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.267254	0.37623	N	0.002010	T	0.59865	0.2225	L	0.56340	1.77	0.53005	D	0.999966	D;D	0.63880	0.993;0.982	D;P	0.63113	0.911;0.864	T	0.59910	-0.7365	10	0.66056	D	0.02	-5.3364	18.6066	0.91268	0.0:0.0:1.0:0.0	.	79;3	B3KST3;Q8NCQ5	.;FBX15_HUMAN	L	3;79	ENSP00000269500:S3L;ENSP00000393154:S79L	ENSP00000269500:S3L	S	-	2	0	FBXO15	69954073	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	6.967000	0.76079	2.687000	0.91594	0.655000	0.94253	TCA	FBXO15	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000141665		0.413	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	-	0	29	0	G	NM_152676		71803093	-1	tier1	-	no_errors	ENST00000419743	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A	A	71803093	G	A	71803093	3	1	37	1	0	0	0	0	1	0	0	0	5750	1294	45	3	1328	3	FBXO15	18	71803093	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	40999915	71803093	6274155	249	9095											
CNDP2	55748	genome.wustl.edu	37	chr18	72186240	72186240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtattcccgtgaccttgAcctttcaggaggccacgggc	7	9	12	13	2	1	2	1	2	0	0	2	3	2	3	4	3	0	2	4	3	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr18:72186240A>G	ENST00000324262.4	+	11	1583	c.1267A>G	c.(1267-1269)Acc>Gcc	p.T423A	CNDP2_ENST00000324301.8_Missense_Mutation_p.T339A|CNDP2_ENST00000579847.1_Missense_Mutation_p.T423A	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	423					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CGTGACCTTGACCTTTCAGGA	0.547																																																	0													93	96	95					18																	72186240		2203	4300	6503	SO:0001583	missense	0			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"cytosolic nonspecific dipeptidase"	169800	"peptidase A"	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.1267A>G	18.37:g.72186240A>G	ENSP00000325548:p.Thr423Ala		B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.T423A	ENST00000324262.4	37	c.1267	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423606	0.62733	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T;T	0.07908	3.15;3.15	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.15955	0.0384	M	0.71920	2.185	0.80722	D	1	B;B	0.23058	0.079;0.035	B;B	0.33196	0.159;0.046	T	0.01776	-1.1276	10	0.41790	T	0.15	-11.4355	15.4304	0.75092	1.0:0.0:0.0:0.0	.	339;423	Q96KP4-2;Q96KP4	.;CNDP2_HUMAN	A	423;339	ENSP00000325548:T423A;ENSP00000325756:T339A	ENSP00000325548:T423A	T	+	1	0	CNDP2	70337220	1.000000	0.71417	0.744000	0.31058	0.981000	0.71138	7.474000	0.81024	2.054000	0.61138	0.528000	0.53228	ACC	CNDP2	-	pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.547	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	-	0	61	0	A	NM_018235		72186240	1	tier1	-	no_errors	ENST00000324262	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.998	G	G	72186240	A	G	72186240	3	3	37	1	0	0	0	0	1	0	0	0	3601	275	10	4	1305	4	CNDP2	18	72186240	Missense_Mutation	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	383147	72186240	5891008	250	9096											
LPPR3	79948	genome.wustl.edu	37	chr19	821508	821508	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgaagtagaagcagggcaGaagcgtcatgctgtccttcg	11	7	13	10	3	1	2	1	0	0	2	3	3	2	2	1	1	3	4	1	1	4	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:821508G>A	ENST00000520876.3	-	2	130	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	LPPR3_ENST00000359894.2_Silent_p.L18L	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		18						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										AAGCAGGGCAGAAGCGTCATG	0.701																																																	0													45	40	42					19																	821508		1966	3779	5745	SO:0001819	synonymous_variant	0																														ENST00000520876.3:c.52C>T	19.37:g.821508G>A			Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L18	ENST00000520876.3	37	c.52	CCDS58636.1	19																																																																																			LPPR3	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.701	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	Uniprot_gn	protein_coding	OTTHUMT00000379096.3	-	0	91	0	G			821508	-1	tier1	-	no_errors	ENST00000359894	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.998	A	A	821508	G	A	821508	2	1	37	1	0	0	0	0	0	0	0	1	8961	933	33	3		3	LPPR3	19	821508	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		821508	58307475	251	9097											
STK11	6794	genome.wustl.edu	37	chr19	1206968	1206968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggagggcgagctgatgtCggtgggtatggacacgttca	8	8	17	8	4	1	1	1	1	0	0	2	4	1	3	0	5	1	3	0	5	1	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:1206968C>T	ENST00000326873.7	+	1	1229	c.56C>T	c.(55-57)tCg>tTg	p.S19L	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	19					activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)|p.S19*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTGATGTCGGTGGGTATG	0.662		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	24	Whole gene deletion(20)|Unknown(2)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	cervix(16)|lung(3)|skin(1)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											21	24	23					19																	1206968		2065	4199	6264	SO:0001583	missense	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.56C>T	19.37:g.1206968C>T	ENSP00000324856:p.Ser19Leu		B2RBX7|E7EW76	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S19L	ENST00000326873.7	37	c.56	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942120	0.73672	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.87729	-2.29	3.9	3.9	0.45041	.	0.000000	0.51477	D	0.000089	T	0.81143	0.4761	L	0.44542	1.39	0.44555	D	0.997514	B	0.32781	0.384	B	0.22152	0.038	T	0.81506	-0.0902	10	0.48119	T	0.1	-9.5019	14.9009	0.70678	0.0:1.0:0.0:0.0	.	19	Q15831	STK11_HUMAN	L	19	ENSP00000324856:S19L	ENSP00000324856:S19L	S	+	2	0	STK11	1157968	0.999000	0.42202	0.986000	0.45419	0.991000	0.79684	5.094000	0.64523	1.733000	0.51620	0.462000	0.41574	TCG	STK11	-	NULL	ENSG00000118046		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3		0	40	0	C	NM_000455		1206968	1			no_errors	ENST00000326873	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.997	T	T	1206968	C	T	1206968	3	4	37	1	0	0	0	0	1	0	0	0	15334	893	31	1	58	1	STK11	19	1206968	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	385460	1206968	57922015	252	9098											
TLE2	7089	genome.wustl.edu	37	chr19	3006510	3006510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccgtgtacacatgctGtgtggagccgctgatggtga	6	9	15	11	3	0	2	0	2	0	0	0	3	0	3	3	2	3	3	3	2	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:3006510G>C	ENST00000262953.6	-	15	1670	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E	TLE2_ENST00000443826.3_Missense_Mutation_p.Q348E|TLE2_ENST00000591529.1_Missense_Mutation_p.Q484E|TLE2_ENST00000590536.1_Missense_Mutation_p.Q471E|TLE2_ENST00000447365.2_Missense_Mutation_p.Q137E|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.Q348E|TLE2_ENST00000426948.2_Missense_Mutation_p.Q484E	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	470					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACACATGCTGTGTGGAGCCG	0.706																																																	0													14	17	16					19																	3006510		2102	4229	6331	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1408C>G	19.37:g.3006510G>C	ENSP00000262953:p.Gln470Glu		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q470E	ENST00000262953.6	37	c.1408	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485253	0.63962	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79	3.7	3.7	0.42460	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060200	0.64402	D	0.000002	T	0.06371	0.0164	N	0.14661	0.345	0.33892	D	0.637488	B;B;P;B;B	0.38992	0.22;0.151;0.653;0.22;0.22	B;B;B;B;B	0.35114	0.085;0.063;0.196;0.122;0.122	T	0.18935	-1.0321	10	0.87932	D	0	-15.3824	10.0821	0.42395	0.0:0.0:0.7988:0.2012	.	348;137;484;348;470	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	E	470;348;17;464;137;348;484	ENSP00000262953:Q470E;ENSP00000413107:Q348E;ENSP00000406523:Q137E;ENSP00000392427:Q348E;ENSP00000392869:Q484E	ENSP00000262953:Q470E	Q	-	1	0	TLE2	2957510	1.000000	0.71417	0.994000	0.49952	0.901000	0.52897	4.538000	0.60650	2.074000	0.62210	0.456000	0.33151	CAG	TLE2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000065717		0.706	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	-	0	114	0	G	NM_003260		3006510	-1	tier1	-	no_errors	ENST00000262953	ensembl	human	known	74_37	missense	34.48	38	20	SNP	0.999	C	C	3006510	G	C	3006510	3	2	37	1	0	0	0	0	1	0	0	0	15986	1386	48	5	847	5	TLE2	19	3006510	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1799542	3006510	56122473	253	9099											
MAP2K2	5605	genome.wustl.edu	37	chr19	4090621	4090621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcggtgcgcgtgggtgtgCcgggctggttcagccgcagg	2	7	21	11	6	1	0	1	0	0	0	1	0	1	0	2	6	3	3	2	6	0	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:4090621C>T	ENST00000262948.5	-	11	1431	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	MAP2K2_ENST00000394867.4_Missense_Mutation_p.G296D	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	393					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	CGTGGGTGTGCCGGGCTGGTT	0.652																																																	0													22	17	19					19																	4090621		2144	4204	6348	SO:0001583	missense	0			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.1178G>A	19.37:g.4090621C>T	ENSP00000262948:p.Gly393Asp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G393D	ENST00000262948.5	37	c.1178	CCDS12120.1	19	.	.	.	.	.	.	.	.	.	.	c	12.68	2.010704	0.35511	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	T;T	0.77358	-0.89;-1.09	3.47	2.43	0.29744	.	0.180678	0.52532	D	0.000078	T	0.56455	0.1986	N	0.08118	0	0.27654	N	0.947297	B	0.25772	0.134	B	0.20767	0.031	T	0.55522	-0.8128	10	0.72032	D	0.01	-19.4552	9.7407	0.40416	0.0:0.8941:0.0:0.1059	.	393	P36507	MP2K2_HUMAN	D	393;296	ENSP00000262948:G393D;ENSP00000378336:G296D	ENSP00000262948:G393D	G	-	2	0	MAP2K2	4041621	1.000000	0.71417	1.000000	0.80357	0.290000	0.27261	4.350000	0.59392	0.806000	0.34183	-0.229000	0.12294	GGC	MAP2K2	-	NULL	ENSG00000126934		0.652	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K2	HGNC	protein_coding	OTTHUMT00000258957.2		0	88	0	C			4090621	-1			no_errors	ENST00000262948	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	4090621	C	T	4090621	3	4	37	1	0	0	0	0	1	0	0	0	9275	739	26	3	28	3	MAP2K2	19	4090621	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1084111	4090621	55038362	254	9100											
PTPRS	5802	genome.wustl.edu	37	chr19	5244258	5244258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgctggggggcccctggccGatggagttgacggccgacac	5	6	17	13	4	0	1	0	1	0	0	1	4	0	2	4	6	0	2	4	6	0	1	rs2230609		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:5244258G>A	ENST00000587303.1	-	10	1323	c.1224C>T	c.(1222-1224)atC>atT	p.I408I	PTPRS_ENST00000357368.4_Silent_p.I408I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Silent_p.I395I|PTPRS_ENST00000592099.1_Silent_p.I395I|PTPRS_ENST00000588012.1_Silent_p.I395I|PTPRS_ENST00000348075.2_Silent_p.I395I|PTPRS_ENST00000372412.4_Silent_p.I409I|PTPRS_ENST00000262963.6_Silent_p.I404I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	408	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GCCCCTGGCCGATGGAGTTGA	0.667																																																	0													45	42	43					19																	5244258		2203	4300	6503	SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1224C>T	19.37:g.5244258G>A			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.I409	ENST00000587303.1	37	c.1227	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.667	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	89	0	G			5244258	-1	tier1	rs2230609	no_errors	ENST00000372412	ensembl	human	known	74_37	silent	21.82	43	12	SNP	0.925	A	A	5244258	G	A	5244258	2	1	37	1	0	0	0	0	0	0	0	1	12856	1048	37	1		1	PTPRS	19	5244258	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1153637	5244258	53884725	255	9101											
SH2D3A	10045	genome.wustl.edu	37	chr19	6752623	6752623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcggtcaggctccaggCgctgcgacaggacgccgagg	7	4	16	14	5	2	0	2	0	0	0	3	3	3	1	2	5	2	2	2	5	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:6752623C>T	ENST00000245908.6	-	10	1981	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	CTD-3128G10.6_ENST00000594056.1_RNA|SH2D3A_ENST00000437152.3_Missense_Mutation_p.R478H|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	571					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGGCTCCAGGCGCTGCGACAG	0.667																																																	0													16	22	20					19																	6752623		2198	4292	6490	SO:0001583	missense	0			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"SH2 domain containing"	16885	protein-coding gene	gene with protein product		604721	"SH2 domain-containing 3A"			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1712G>A	19.37:g.6752623C>T	ENSP00000245908:p.Arg571His		A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.R571H	ENST00000245908.6	37	c.1712	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882493	0.51908	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.35236	2.33;1.32	4.85	3.82	0.43975	.	0.000000	0.41500	D	0.000873	T	0.49098	0.1537	L	0.60455	1.87	0.27613	N	0.948592	D;D	0.89917	1.0;0.999	D;P	0.67725	0.953;0.899	T	0.39187	-0.9626	10	0.66056	D	0.02	-24.5399	6.6659	0.23041	0.0:0.7885:0.0:0.2115	.	478;571	B4DRS7;Q9BRG2	.;SH23A_HUMAN	H	571;478	ENSP00000245908:R571H;ENSP00000393303:R478H	ENSP00000245908:R571H	R	-	2	0	SH2D3A	6703623	0.996000	0.38824	0.932000	0.37286	0.739000	0.42172	2.764000	0.47613	1.253000	0.44018	0.563000	0.77884	CGC	SH2D3A	-	smart_RasGRF_CDC25	ENSG00000125731		0.667	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	-	0	90	0	C	NM_005490		6752623	-1	tier1	-	no_errors	ENST00000245908	ensembl	human	known	74_37	missense	34.55	36	19	SNP	0.741	T	T	6752623	C	T	6752623	3	4	37	1	0	0	0	0	1	0	0	0	14278	768	27	1	22	1	SH2D3A	19	6752623	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1508365	6752623	52376360	256	9102											
INSR	3643	genome.wustl.edu	37	chr19	7172394	7172394	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatttttagataccctGaaatttcttcaatgaggccg	10	13	10	8	2	2	3	1	2	1	1	2	4	2	4	2	3	1	0	2	3	4	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:7172394G>T	ENST00000302850.5	-	5	1317	c.1175C>A	c.(1174-1176)tCa>tAa	p.S392*	INSR_ENST00000341500.5_Nonsense_Mutation_p.S392*	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	392					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TAGATACCCTGAAATTTCTTC	0.453																																																	0													141	129	133					19																	7172394		2203	4300	6503	SO:0001587	stop_gained	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1175C>A	19.37:g.7172394G>T	ENSP00000303830:p.Ser392*		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.S392*	ENST00000302850.5	37	c.1175	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.886802	0.98542	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	.	.	.	5.12	5.12	0.69794	.	0.198808	0.24745	N	0.035952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	.	.	.	X	392	.	ENSP00000303830:S392X	S	-	2	0	INSR	7123394	1.000000	0.71417	0.982000	0.44146	0.958000	0.62258	9.402000	0.97298	2.397000	0.81536	0.561000	0.74099	TCA	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000171105		0.453	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1		0	52	0	G			7172394	-1			no_errors	ENST00000302850	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	1.000	T	T	7172394	G	T	7172394	4	4	37	1	0	0	0	0	0	1	0	0	7800	1294	45	3	3045	3	INSR	19	7172394	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	419771	7172394	51956589	257	9103											
ZNF846	162993	genome.wustl.edu	37	chr19	9869432	9869432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagtttctctgcagtattGcttctctcctgttgagatat	7	18	7	9	0	2	1	0	1	2	1	5	2	3	1	1	0	3	5	1	0	3	7			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:9869432G>T	ENST00000397902.2	-	6	734	c.321C>A	c.(319-321)agC>agA	p.S107R	ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000592859.1_5'UTR|ZNF846_ENST00000586293.1_Missense_Mutation_p.Q80K	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CTGCAGTATTGCTTCTCTCCT	0.343																																																	0													103	94	97					19																	9869432		1829	4093	5922	SO:0001583	missense	0			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"Zinc fingers, C2H2-type", "-"	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.321C>A	19.37:g.9869432G>T	ENSP00000380999:p.Ser107Arg		A8K0H1|B3KUP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S107R	ENST00000397902.2	37	c.321	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	14.26	2.480890	0.44044	.	.	ENSG00000196605	ENST00000397902	T	0.15256	2.44	2.15	-0.0562	0.13806	.	.	.	.	.	T	0.14700	0.0355	L	0.35487	1.065	0.09310	N	1	P	0.52061	0.95	P	0.47864	0.559	T	0.18903	-1.0322	8	.	.	.	.	6.2064	0.20606	0.2885:0.0:0.7115:0.0	.	107	Q147U1	ZN846_HUMAN	R	107	ENSP00000380999:S107R	.	S	-	3	2	ZNF846	9730432	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-0.431000	0.06965	0.063000	0.16370	-0.259000	0.10710	AGC	ZNF846	-	NULL	ENSG00000196605		0.343	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1		0	30	0	G	NM_001077624		9869432	-1			no_errors	ENST00000397902	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.094	T	T	9869432	G	T	9869432	3	4	37	1	0	0	0	0	1	0	0	0	18240	1310	46	3	1284	3	ZNF846	19	9869432	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2697038	9869432	49259551	258	9104											
PRKCSH	5589	genome.wustl.edu	37	chr19	11558541	11558541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgtcacccccgcagccgGccagccctgctgaggaagac	8	4	11	18	2	1	2	1	1	0	1	1	3	1	3	5	2	3	2	5	2	1	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:11558541G>T	ENST00000589838.1	+	11	1042	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	PRKCSH_ENST00000591462.1_Missense_Mutation_p.A345S|PRKCSH_ENST00000412601.1_Missense_Mutation_p.A345S|PRKCSH_ENST00000587327.1_Missense_Mutation_p.A345S|PRKCSH_ENST00000592741.1_Missense_Mutation_p.A355S|PRKCSH_ENST00000252455.2_Missense_Mutation_p.A348S			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	348					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CCCGCAGCCGGCCAGCCCTGC	0.687																																																	0													16	17	17					19																	11558541		2191	4283	6474	SO:0001583	missense	0				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"EF-hand domain containing"	9411	protein-coding gene	gene with protein product		177060	"polycystic liver disease"	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.1042G>T	19.37:g.11558541G>T	ENSP00000465461:p.Ala348Ser		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom	p.A348S	ENST00000589838.1	37	c.1042	CCDS32911.1	19	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945025	0.34283	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.71817	-0.59;-0.6	4.81	3.68	0.42216	.	0.627945	0.15833	N	0.242435	T	0.60287	0.2257	L	0.47716	1.5	0.30342	N	0.785597	B;B;B;B	0.15141	0.012;0.012;0.002;0.002	B;B;B;B	0.10450	0.005;0.005;0.005;0.002	T	0.51826	-0.8656	10	0.08837	T	0.75	-13.6473	12.2549	0.54619	0.0:0.2408:0.7592:0.0	.	355;355;345;348	E7EQZ9;B4DJQ5;A8K318;P14314	.;.;.;GLU2B_HUMAN	S	348;345	ENSP00000252455:A348S;ENSP00000395616:A345S	ENSP00000252455:A348S	A	+	1	0	PRKCSH	11419541	0.044000	0.20184	0.719000	0.30619	0.020000	0.10135	0.436000	0.21526	0.869000	0.35703	0.491000	0.48974	GCC	PRKCSH	-	NULL	ENSG00000130175		0.687	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1	-	0	41	0	G			11558541	1	tier1	-	no_errors	ENST00000252455	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.921	T	T	11558541	G	T	11558541	3	4	37	1	0	0	0	0	1	0	0	0	12558	1203	42	3	1105	3	PRKCSH	19	11558541	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1689109	11558541	47570442	259	9105											
ZNF700	90592	genome.wustl.edu	37	chr19	12060674	12060674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccttcgaaagcatggtaGgactcacactggagagaaac	16	6	10	9	1	1	1	1	0	0	1	2	5	1	3	1	3	3	2	1	3	4	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:12060674G>T	ENST00000254321.5	+	4	1978	c.1835G>T	c.(1834-1836)aGg>aTg	p.R612M	ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.R594M|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AAGCATGGTAGGACTCACACT	0.473																																																	0													102	100	101					19																	12060674		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"Zinc fingers, C2H2-type", "-"	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1835G>T	19.37:g.12060674G>T	ENSP00000254321:p.Arg612Met		B9EGU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R612M	ENST00000254321.5	37	c.1835	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	9.578	1.122912	0.20959	.	.	ENSG00000196757	ENST00000254321	T	0.25579	1.79	0.563	-1.13	0.09775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44540	0.1298	M	0.76328	2.33	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27971	-1.0058	9	0.72032	D	0.01	.	6.4069	0.21670	0.0:0.0:0.7111:0.2889	.	612	Q9H0M5	ZN700_HUMAN	M	612	ENSP00000254321:R612M	ENSP00000254321:R612M	R	+	2	0	ZNF700	11921674	0.000000	0.05858	0.002000	0.10522	0.109000	0.19521	-0.433000	0.06948	-0.448000	0.07128	0.313000	0.20887	AGG	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.473	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	-	0	56	0	G	NM_144566		12060674	1	tier1	-	no_errors	ENST00000254321	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	T	T	12060674	G	T	12060674	3	4	37	1	0	0	0	0	1	0	0	0	18152	1000	35	3	1849	3	ZNF700	19	12060674	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	502133	12060674	47068309	260	9106											
GIPC1	10755	genome.wustl.edu	37	chr19	14589343	14589343	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcggccagctcatccgggTtccttttgtcctttcccagc	3	13	8	17	2	1	0	1	0	0	0	6	0	5	0	6	2	2	2	6	2	0	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:14589343T>A	ENST00000393033.4	-	9	1156	c.887A>T	c.(886-888)aAc>aTc	p.N296I	GIPC1_ENST00000393029.3_Missense_Mutation_p.N199I|GIPC1_ENST00000586027.1_Missense_Mutation_p.N296I|GIPC1_ENST00000591349.1_Missense_Mutation_p.N199I|GIPC1_ENST00000345425.2_Missense_Mutation_p.N296I|GIPC1_ENST00000393028.1_Missense_Mutation_p.N199I	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	296					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTCATCCGGGTTCCTTTTGTC	0.622																																					Pancreas(33;78 923 2910 41023 52850)												0													40	42	41					19																	14589343		2203	4300	6503	SO:0001583	missense	0			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.887A>T	19.37:g.14589343T>A	ENSP00000376753:p.Asn296Ile		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.N296I	ENST00000393033.4	37	c.887	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	t	24.9	4.577823	0.86645	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	D;D;D;D	0.87887	-1.77;-1.77;-2.31;-2.31	4.28	4.28	0.50868	.	0.104380	0.64402	D	0.000007	D	0.93190	0.7831	M	0.89478	3.035	0.58432	D	0.999999	D	0.63880	0.993	D	0.64506	0.926	D	0.93940	0.7222	10	0.87932	D	0	-12.8588	11.3771	0.49735	0.0:0.0:0.0:1.0	.	296	O14908	GIPC1_HUMAN	I	296;296;199;199;296	ENSP00000376753:N296I;ENSP00000340698:N296I;ENSP00000376749:N199I;ENSP00000376748:N199I	ENSP00000340698:N296I	N	-	2	0	GIPC1	14450343	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	1.902000	0.39848	1.586000	0.49944	0.454000	0.30748	AAC	GIPC1	-	pirsf_UCP038083_PDZ	ENSG00000123159		0.622	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	-	0	31	0	T			14589343	-1	tier1	-	no_errors	ENST00000345425	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	A	A	14589343	T	A	14589343	3	1	37	1	0	0	0	0	1	0	0	0	6418	1725	60	5	118	5	GIPC1	19	14589343	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	2528669	14589343	44539640	261	9107											
ZNF676	163223	genome.wustl.edu	37	chr19	22363643	22363643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccatgagctttgaggaCgagttggaagctttgccaca	9	12	12	8	1	0	2	0	2	0	0	1	5	1	4	2	2	3	4	2	2	1	4	rs578027971	byFrequency	TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:22363643C>T	ENST00000397121.2	-	3	1193	c.876G>A	c.(874-876)tcG>tcA	p.S292S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	292			S -> W (in dbSNP:rs11671538).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S292S(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GCTTTGAGGACGAGTTGGAAG	0.438													C|||	2	0.000399361	0	0	5008	,	,		26954	0		0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	prostate(1)											102	106	105					19																	22363643		2158	4279	6437	SO:0001819	synonymous_variant	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.876G>A	19.37:g.22363643C>T			A8MVX5	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S292	ENST00000397121.2	37	c.876	CCDS42539.1	19																																																																																			ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1		0	37	0	C	NM_001001411		22363643	-1			no_errors	ENST00000397121	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.000	T	T	22363643	C	T	22363643	2	4	37	1	0	0	0	0	0	0	0	1	18131	523	19	1		1	ZNF676	19	22363643	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	7774300	22363643	36765340	262	9108											
TMEM145	284339	genome.wustl.edu	37	chr19	42821103	42821103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccatgtggtgctgctcatCtacgaggcggaagtgagtcc	8	9	13	11	2	2	1	1	1	1	0	3	3	3	2	2	3	3	2	2	3	2	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:42821103C>G	ENST00000301204.3	+	11	929	c.888C>G	c.(886-888)atC>atG	p.I296M	TMEM145_ENST00000598766.1_Missense_Mutation_p.I320M	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	296					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				TGCTGCTCATCTACGAGGCGG	0.662																																																	0													47	36	40					19																	42821103		2203	4300	6503	SO:0001583	missense	0			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.888C>G	19.37:g.42821103C>G	ENSP00000301204:p.Ile296Met			Missense_Mutation	SNP	pfam_Intimal_thickness-rel_rcpt	p.I296M	ENST00000301204.3	37	c.888	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796640	0.31777	.	.	ENSG00000167619	ENST00000301204	T	0.52057	0.68	3.98	1.83	0.25207	Rhodopsin-like GPCR transmembrane domain (1);	0.386473	0.21090	N	0.080333	T	0.45337	0.1337	M	0.73962	2.25	0.45515	D	0.998476	B	0.33044	0.395	B	0.37943	0.261	T	0.36866	-0.9730	10	0.54805	T	0.06	-22.3788	3.8146	0.08811	0.1897:0.5967:0.0:0.2136	.	296	Q8NBT3	TM145_HUMAN	M	296	ENSP00000301204:I296M	ENSP00000301204:I296M	I	+	3	3	TMEM145	47512943	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	1.783000	0.38664	0.288000	0.22398	-0.362000	0.07510	ATC	TMEM145	-	pfam_Intimal_thickness-rel_rcpt	ENSG00000167619		0.662	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1		0	61	0	C	NM_173633		42821103	1			no_errors	ENST00000301204	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	G	G	42821103	C	G	42821103	3	3	37	1	0	0	0	0	1	0	0	0	16106	903	32	5	930	5	TMEM145	19	42821103	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	20457460	42821103	16307880	263	9109											
LYPD3	27076	genome.wustl.edu	37	chr19	43965593	43965593	+	Frame_Shift_Del	DEL	C	C	-																															ttattatggggctgctggggCcccccttttgcaggatactg																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:43965593delC	ENST00000244333.3	-	5	1039	c.951delG	c.(949-951)gggfs	p.G317fs		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	317					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GCTGCTGGGGCCCCCCTTTTG	0.622																																																	0													42	45	44					19																	43965593		2203	4300	6503	SO:0001589	frameshift_variant	0			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.951delG	19.37:g.43965593delC	ENSP00000244333:p.Gly317fs		Q9UJ74	Frame_Shift_Del	DEL	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.Q319fs	ENST00000244333.3	37	c.951	CCDS12620.1	19																																																																																			LYPD3	-	NULL	ENSG00000124466		0.622	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1		0	63	0	C	NM_014400		43965593	-1	tier1		no_errors	ENST00000244333	ensembl	human	known	74_37	frame_shift_del	9.68	28	3	DEL	0.000	-	-	43965593	C	-	43965593	7	5	37	1	0	1	0	1	0	0	0	0	9147	726	26	0	93	0	LYPD3	19	43965593	Frame_Shift_Del	DEL	C	TCGA-JY-A6FD-01A-11D-A33E-09	1144490	43965593	15163390	264	9110											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47423066	47423066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagccagaattcttgaaGtggtttgttgtgcttgaaga	11	13	11	6	0	1	4	0	2	1	2	1	4	1	4	2	1	2	3	2	1	4	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:47423066G>T	ENST00000404338.3	+	1	1134	c.1134G>T	c.(1132-1134)aaG>aaT	p.K378N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	378	FF 2.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AATTCTTGAAGTGGTTTGTTG	0.418																																																	0													84	80	82					19																	47423066		1878	4119	5997	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1134G>T	19.37:g.47423066G>T	ENSP00000385720:p.Lys378Asn		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K378N	ENST00000404338.3	37	c.1134	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242633	0.22796	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.07908	3.15	5.74	4.65	0.58169	.	0.151472	0.64402	D	0.000012	T	0.06735	0.0172	L	0.29908	0.895	0.48571	D	0.999676	P	0.36909	0.573	B	0.37731	0.257	T	0.37244	-0.9714	10	0.27082	T	0.32	-37.201	8.767	0.34708	0.08:0.1532:0.7667:0.0	.	378	Q9NRY4-2	.	N	378	ENSP00000385720:K378N	ENSP00000324820:K378N	K	+	3	2	ARHGAP35	52114906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.932000	0.28884	2.708000	0.92522	0.585000	0.79938	AAG	ARHGAP35	-	smart_FF_domain	ENSG00000160007		0.418	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1		0	56	0	G	NM_004491		47423066	1			no_errors	ENST00000404338	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	47423066	G	T	47423066	3	4	37	1	0	0	0	0	1	0	0	0	6822	1020	36	3	1136	3	ARHGAP35	19	47423066	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3457473	47423066	11705917	265	9111											
SIGLEC10	89790	genome.wustl.edu	37	chr19	51914441	51914441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcctgggaagttgagcGtggcataatggagctcctct	8	10	14	9	2	1	2	0	2	1	0	2	4	2	4	2	3	2	3	2	3	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:51914441G>T	ENST00000339313.5	-	11	2122	c.2006C>A	c.(2005-2007)aCg>aAg	p.T669K	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.T611K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.T669K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.T491K|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.T574K|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.T516K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.T484K|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.T426K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.T526K			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	669					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T611M(1)|p.T669M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GAAGTTGAGCGTGGCATAATG	0.552																																																	2	Substitution - Missense(2)	large_intestine(2)											168	161	164					19																	51914441		2203	4300	6503	SO:0001583	missense	0			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.2006C>A	19.37:g.51914441G>T	ENSP00000345243:p.Thr669Lys		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T669K	ENST00000339313.5	37	c.2006	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	11.73	1.724883	0.30593	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.51574	1.03;2.24;1.7;0.86;2.08;1.89;0.7;2.02;0.86	4.55	-2.7	0.06004	.	1.841900	0.02815	N	0.124894	T	0.52419	0.1733	L	0.44542	1.39	0.09310	N	1	P;D;P;P;P;P;B	0.76494	0.904;0.999;0.904;0.942;0.942;0.786;0.16	P;D;P;P;P;B;B	0.65233	0.476;0.933;0.476;0.675;0.675;0.39;0.071	T	0.47560	-0.9108	10	0.51188	T	0.08	.	1.3318	0.02136	0.2085:0.3074:0.3279:0.1562	.	526;484;574;574;516;611;669	C9JM10;E9PL79;B7ZL04;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;SIG10_HUMAN	K	574;491;426;669;516;484;611;526;669	ENSP00000342389:T574K;ENSP00000396742:T491K;ENSP00000395475:T426K;ENSP00000348646:T669K;ENSP00000408387:T516K;ENSP00000431444:T484K;ENSP00000389132:T611K;ENSP00000414324:T526K;ENSP00000345243:T669K	ENSP00000345243:T669K	T	-	2	0	SIGLEC10	56606253	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.283000	0.08433	-0.153000	0.11137	-0.219000	0.12488	ACG	SIGLEC10	-	NULL	ENSG00000142512		0.552	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2		0	63	0	G	NM_033130		51914441	-1			no_errors	ENST00000339313	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.000	T	T	51914441	G	T	51914441	3	4	37	1	0	0	0	0	1	0	0	0	14351	1145	40	2	91	2	SIGLEC10	19	51914441	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	4491375	51914441	7214542	266	9112											
ZNF808	388558	genome.wustl.edu	37	chr19	53058173	53058173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacaagtcatcacttgtatgGcatcgtagacttcatggtgg	10	13	10	8	1	3	1	3	0	0	1	4	1	3	1	0	3	1	3	0	3	4	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:53058173G>A	ENST00000359798.4	+	5	2184	c.2004G>A	c.(2002-2004)tgG>tgA	p.W668*		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	668					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CACTTGTATGGCATCGTAGAC	0.403																																																	0													127	131	129					19																	53058173		2203	4300	6503	SO:0001587	stop_gained	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2004G>A	19.37:g.53058173G>A	ENSP00000352846:p.Trp668*		Q68CN7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W668*	ENST00000359798.4	37	c.2004	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	24.7	4.563083	0.86335	.	.	ENSG00000198482	ENST00000359798	.	.	.	1.38	-2.75	0.05914	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	1.1951	0.01873	0.216:0.3413:0.2815:0.1611	.	.	.	.	X	668	.	ENSP00000352846:W668X	W	+	3	0	ZNF808	57749985	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-6.495000	0.00064	-2.335000	0.00629	-0.754000	0.03487	TGG	ZNF808	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198482		0.403	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	-	0	79	0	G	NM_001039886		53058173	1	tier1	-	no_errors	ENST00000359798	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	0.022	A	A	53058173	G	A	53058173	4	1	37	1	0	0	0	0	0	1	0	0	18221	1212	42	3	2014	3	ZNF808	19	53058173	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1143732	53058173	6070810	267	9113											
LILRA2	11027	genome.wustl.edu	37	chr19	55086220	55086220	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacagcaaacccaccctCtcagctctgcccagccctgt	8	7	6	20	0	2	0	1	0	2	0	3	0	2	0	5	0	6	2	5	0	2	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:55086220C>A	ENST00000251377.3	+	5	508	c.375C>A	c.(373-375)ctC>ctA	p.L125L	LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.L125L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L113L|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.L125L			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	125	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AACCCACCCTCTCAGCTCTGC	0.572																																																	0													125	120	121					19																	55086220		2203	4300	6503	SO:0001819	synonymous_variant	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.375C>A	19.37:g.55086220C>A			O75020	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.L125	ENST00000251377.3	37	c.375	CCDS46179.1	19																																																																																			LILRA2	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239998		0.572	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	-	0	265	0	C			55086220	1	tier1	-	no_errors	ENST00000251377	ensembl	human	known	74_37	silent	28.57	120	48	SNP	0.305	A	A	55086220	C	A	55086220	2	1	37	1	0	0	0	0	0	0	0	1	8814	900	32	3		3	LILRA2	19	55086220	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	2028047	55086220	4042763	268	9114											
NAT14	57106	genome.wustl.edu	37	chr19	55998266	55998266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggctaccaggccgaGgggggctggggctgcctggg	3	6	22	10	1	0	0	0	0	0	0	0	1	0	0	3	9	2	4	3	9	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:55998266G>T	ENST00000205194.4	+	3	867	c.564G>T	c.(562-564)gaG>gaT	p.E188D	NAT14_ENST00000592719.1_Intron|SSC5D_ENST00000587166.1_5'Flank|SSC5D_ENST00000389623.6_5'Flank|NAT14_ENST00000587400.1_Intron	NM_020378.3	NP_065111.1	Q8WUY8	NAT14_HUMAN	N-acetyltransferase 14 (GCN5-related, putative)	188	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of transcription, DNA-templated (GO:0045893)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|N-acetyltransferase activity (GO:0008080)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0527)		ACCAGGCCGAGGGGGGCTGGG	0.716																																																	0													5	5	5					19																	55998266		1928	3892	5820	SO:0001583	missense	0			AB055059	CCDS12926.1	19q13.42	2011-11-25	2008-09-24		ENSG00000090971	ENSG00000090971			28918	protein-coding gene	gene with protein product	"K562 cells-derived leucine zipper-like protein 1"		"N-acetyltransferase 14"			10873651	Standard	NM_020378		Approved	KLP1	uc002qle.2	Q8WUY8		ENST00000205194.4:c.564G>T	19.37:g.55998266G>T	ENSP00000205194:p.Glu188Asp		Q8TDY7|Q9NS72	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E188D	ENST00000205194.4	37	c.564	CCDS12926.1	19	.	.	.	.	.	.	.	.	.	.	.	14.34	2.505866	0.44558	.	.	ENSG00000090971	ENST00000205194	.	.	.	4.45	2.18	0.27775	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.687236	0.12939	N	0.426797	T	0.23054	0.0557	N	0.16656	0.425	0.31966	N	0.607836	B	0.26081	0.141	B	0.17722	0.019	T	0.23833	-1.0177	9	0.27082	T	0.32	-44.6472	7.0352	0.24989	0.0952:0.0:0.7338:0.171	.	188	Q8WUY8	NAT14_HUMAN	D	188	.	ENSP00000205194:E188D	E	+	3	2	NAT14	60690078	0.123000	0.22298	0.406000	0.26421	0.872000	0.50106	0.048000	0.14078	0.388000	0.25054	0.462000	0.41574	GAG	NAT14	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000090971		0.716	NAT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT14	HGNC	protein_coding	OTTHUMT00000453339.1	-	0	29	0	G	NM_020378		55998266	1	tier1	-	no_errors	ENST00000205194	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.991	T	T	55998266	G	T	55998266	3	4	37	1	0	0	0	0	1	0	0	0	10213	991	35	3	570	3	NAT14	19	55998266	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	912046	55998266	3130717	269	9115											
ZSCAN5B	342933	genome.wustl.edu	37	chr19	56701846	56701846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcccgctgtgagtcaaagCttctctctccacaacgcagg	8	10	9	14	2	3	1	1	1	2	0	6	1	4	1	2	1	2	4	2	1	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr19:56701846C>G	ENST00000586855.2	-	5	1151	c.838G>C	c.(838-840)Gct>Cct	p.A280P	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.A280P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	280					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGAGTCAAAGCTTCTCTCTCC	0.517																																																	0													160	155	157					19																	56701846		2203	4300	6503	SO:0001583	missense	0				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"-", "Zinc fingers, C2H2-type"	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.838G>C	19.37:g.56701846C>G	ENSP00000466072:p.Ala280Pro			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A280P	ENST00000586855.2	37	c.838	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	C	11.22	1.573851	0.28092	.	.	ENSG00000197213	ENST00000358992	T	0.06371	3.31	1.86	-2.3	0.06785	.	.	.	.	.	T	0.10078	0.0247	M	0.75447	2.3	0.09310	N	1	P	0.50710	0.938	P	0.49140	0.601	T	0.12142	-1.0559	9	0.39692	T	0.17	.	2.4583	0.04535	0.2267:0.4583:0.0:0.315	.	280	A6NJL1	ZSA5B_HUMAN	P	280	ENSP00000351883:A280P	ENSP00000351883:A280P	A	-	1	0	ZSCAN5B	61393658	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.168000	0.09925	-0.484000	0.06763	-1.206000	0.01644	GCT	ZSCAN5B	-	NULL	ENSG00000197213		0.517	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	-	0	112	0	C	NM_001080456		56701846	-1	tier1	-	no_errors	ENST00000358992	ensembl	human	known	74_37	missense	5.66	100	6	SNP	0.003	G	G	56701846	C	G	56701846	3	3	37	1	0	0	0	0	1	0	0	0	18287	797	28	5	653	5	ZSCAN5B	19	56701846	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	703580	56701846	2427137	270	9116											
GZF1	64412	genome.wustl.edu	37	chr20	23349433	23349433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtgaaacatgtggcaaGagttttgcttctaaggagta	12	13	12	4	0	1	2	0	1	1	1	1	3	1	3	0	2	2	4	0	2	4	5			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr20:23349433G>T	ENST00000338121.5	+	4	1571	c.1494G>T	c.(1492-1494)aaG>aaT	p.K498N	GZF1_ENST00000544236.1_Missense_Mutation_p.K22N|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_Missense_Mutation_p.K498N|GZF1_ENST00000542987.1_Missense_Mutation_p.K7N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	498					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CATGTGGCAAGAGTTTTGCTT	0.368																																																	0													118	113	114					20																	23349433		2203	4300	6503	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1494G>T	20.37:g.23349433G>T	ENSP00000338290:p.Lys498Asn		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K498N	ENST00000338121.5	37	c.1494	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754758	0.69648	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.27890	3.15;1.64;3.15;1.64	5.87	1.25	0.21368	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.55577	0.1929	M	0.85710	2.77	0.49051	D	0.999749	D	0.89917	1.0	D	0.91635	0.999	T	0.61033	-0.7144	10	0.87932	D	0	.	11.338	0.49516	0.2911:0.0:0.7089:0.0	.	498	Q9H116	GZF1_HUMAN	N	22;498;7;498	ENSP00000445458:K22N;ENSP00000338290:K498N;ENSP00000445118:K7N;ENSP00000366250:K498N	ENSP00000338290:K498N	K	+	3	2	GZF1	23297433	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.194000	0.51005	0.399000	0.25367	-0.145000	0.13849	AAG	GZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125812		0.368	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1		0	65	0	G	NM_022482		23349433	1			no_errors	ENST00000338121	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	23349433	G	T	23349433	3	4	37	1	0	0	0	0	1	0	0	0	6941	933	33	3	1504	3	GZF1	20	23349433	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		23349433	39676087	271	9117											
ZSWIM3	140831	genome.wustl.edu	37	chr20	44505581	44505581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcctgcagagactccaGcctgtgcagcccacaaccaa	11	6	9	15	0	0	1	0	0	0	1	1	2	1	1	5	0	6	2	5	0	2	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr20:44505581G>T	ENST00000255152.2	+	2	593	c.384G>T	c.(382-384)caG>caT	p.Q128H	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.Q122H	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	128							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AGAGACTCCAGCCTGTGCAGC	0.493																																																	0													71	68	69					20																	44505581		2203	4300	6503	SO:0001583	missense	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"Zinc fingers, SWIM-type"	16157	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 174"		"chromosome 20 open reading frame 164"	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.384G>T	20.37:g.44505581G>T	ENSP00000255152:p.Gln128His		Q9BR13	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.Q128H	ENST00000255152.2	37	c.384	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409212	0.25378	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.24538	1.88;1.85	5.12	3.1	0.35709	.	0.394581	0.24732	N	0.036043	T	0.17662	0.0424	L	0.29908	0.895	0.28052	N	0.933304	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.12785	-1.0534	10	0.40728	T	0.16	-8.6067	9.2078	0.37300	0.0782:0.0:0.7764:0.1454	.	122;128	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	H	128;122	ENSP00000255152:Q128H;ENSP00000406313:Q122H	ENSP00000255152:Q128H	Q	+	3	2	ZSWIM3	43938988	0.028000	0.19301	0.974000	0.42286	0.774000	0.43823	1.513000	0.35823	0.698000	0.31739	0.561000	0.74099	CAG	ZSWIM3	-	NULL	ENSG00000132801		0.493	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1		0	36	0	G	NM_080752		44505581	1			no_errors	ENST00000255152	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.972	T	T	44505581	G	T	44505581	3	4	37	1	0	0	0	0	1	0	0	0	18290	962	34	3	390	3	ZSWIM3	20	44505581	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	21156148	44505581	18519939	272	9118											
CYP24A1	1591	genome.wustl.edu	37	chr20	52775550	52775550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatattcctcaaatcttctGcccgtggcacctgattctca	8	13	6	14	1	4	1	2	1	3	0	6	1	5	1	3	1	1	2	3	1	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr20:52775550G>T	ENST00000216862.3	-	8	1496	c.1103C>A	c.(1102-1104)gCa>gAa	p.A368E	CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395954.3_Missense_Mutation_p.A226E|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A368E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	368				A -> E (in Ref. 1; AAA62379). {ECO:0000305}.	osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAAATCTTCTGCCCGTGGCAC	0.388																																																	0													125	130	128					20																	52775550		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1103C>A	20.37:g.52775550G>T	ENSP00000216862:p.Ala368Glu		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A368E	ENST00000216862.3	37	c.1103	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473822	0.63737	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.67698	-0.28;-0.28;-0.28	5.58	5.58	0.84498	.	0.051582	0.85682	D	0.000000	T	0.75451	0.3851	L	0.35644	1.08	0.58432	D	0.999996	D;D;D	0.89917	0.964;1.0;0.999	P;D;D	0.75484	0.523;0.986;0.975	T	0.73509	-0.3960	10	0.38643	T	0.18	-6.189	18.553	0.91072	0.0:0.0:1.0:0.0	.	368;368;226	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	E	368;368;226	ENSP00000216862:A368E;ENSP00000379285:A368E;ENSP00000379284:A226E	ENSP00000216862:A368E	A	-	2	0	CYP24A1	52208957	1.000000	0.71417	0.855000	0.33649	0.537000	0.34900	7.011000	0.76359	2.615000	0.88500	0.650000	0.86243	GCA	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000019186		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0	51	0	G			52775550	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	52775550	G	T	52775550	3	4	37	1	0	0	0	0	1	0	0	0	4163	1319	46	3	457	3	CYP24A1	20	52775550	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	8269969	52775550	10249970	273	9119											
CTCFL	140690	genome.wustl.edu	37	chr20	56083740	56083740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgtggtatttcctgaaGtgagcgtttagaagttgctt	8	15	12	6	2	0	3	0	2	0	1	2	3	1	3	1	1	2	5	1	1	4	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr20:56083740G>T	ENST00000608263.1	-	8	2257	c.1596C>A	c.(1594-1596)caC>caA	p.H532Q	CTCFL_ENST00000609232.1_Missense_Mutation_p.H532Q|CTCFL_ENST00000429804.3_Missense_Mutation_p.H482Q|CTCFL_ENST00000539382.1_Missense_Mutation_p.H327Q|CTCFL_ENST00000243914.3_Missense_Mutation_p.H532Q|CTCFL_ENST00000608903.1_Missense_Mutation_p.H270Q|CTCFL_ENST00000423479.3_Missense_Mutation_p.H532Q|CTCFL_ENST00000608440.1_Missense_Mutation_p.H532Q|CTCFL_ENST00000433949.3_Missense_Mutation_p.H327Q|CTCFL_ENST00000422869.2_Missense_Mutation_p.H532Q|CTCFL_ENST00000608425.1_Missense_Mutation_p.H532Q|CTCFL_ENST00000432255.2_Missense_Mutation_p.H388Q|CTCFL_ENST00000502686.2_Missense_Mutation_p.H270Q|CTCFL_ENST00000371196.2_Missense_Mutation_p.H532Q	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	532					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ATTTCCTGAAGTGAGCGTTTA	0.448																																																	0													207	200	202					20																	56083740		2203	4300	6503	SO:0001583	missense	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1596C>A	20.37:g.56083740G>T	ENSP00000476783:p.His532Gln		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H532Q	ENST00000608263.1	37	c.1596	CCDS13459.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215940|3.215940	0.58452|0.58452	.|.	.|.	ENSG00000124092|ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000432255;ENST00000539382;ENST00000422869|ENST00000422109	D;D;D;D;D;D;D;D;D|T	0.96168|0.06608	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93|3.28	5.39|5.39	3.45|3.45	0.39498|0.39498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.47093|.	D|.	0.000250|.	T|T	0.17152|0.17152	0.0412|0.0412	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;0.999;0.997;0.999;0.999;0.997;0.997|.	T|T	0.38394|0.38394	-0.9663|-0.9663	10|7	0.87932|0.02654	D|T	0|1	-38.1049|-38.1049	9.0114|9.0114	0.36144|0.36144	0.2412:0.0:0.7588:0.0|0.2412:0.0:0.7588:0.0	.|.	532;388;532;482;532;532;532|.	A6XGM9;A6XGM8;A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51|.	.;.;.;.;.;.;CTCFL_HUMAN|.	Q|I	532;532;532;482;532;270;388;327;532|401	ENSP00000415579:H532Q;ENSP00000243914:H532Q;ENSP00000360239:H532Q;ENSP00000415329:H482Q;ENSP00000392034:H532Q;ENSP00000437999:H270Q;ENSP00000409344:H388Q;ENSP00000439998:H327Q;ENSP00000399061:H532Q|ENSP00000413713:L401I	ENSP00000243914:H532Q|ENSP00000413713:L401I	H|L	-|-	3|1	2|0	CTCFL|CTCFL	55517146|55517146	1.000000|1.000000	0.71417|0.71417	0.266000|0.266000	0.24541|0.24541	0.432000|0.432000	0.31715|0.31715	1.955000|1.955000	0.40372|0.40372	0.759000|0.759000	0.33084|0.33084	0.655000|0.655000	0.94253|0.94253	CAC|CTT	CTCFL	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124092		0.448	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	-	0	73	0	G	NM_080618		56083740	-1	tier1	-	no_errors	ENST00000423479	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	56083740	G	T	56083740	3	4	37	1	0	0	0	0	1	0	0	0	4010	1020	36	3	407	3	CTCFL	20	56083740	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	3308190	56083740	6941780	274	9120											
ZNF831	128611	genome.wustl.edu	37	chr20	57767928	57767928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagatgttctcccaggaGaagtggcaggtgtacgggga	10	8	16	7	1	1	3	0	1	1	2	2	5	1	4	1	5	1	3	1	5	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr20:57767928G>C	ENST00000371030.2	+	1	1854	c.1854G>C	c.(1852-1854)gaG>gaC	p.E618D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	618							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTCCCAGGAGAAGTGGCAGG	0.592																																																	0													60	69	66					20																	57767928		2057	4202	6259	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1854G>C	20.37:g.57767928G>C	ENSP00000360069:p.Glu618Asp		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E618D	ENST00000371030.2	37	c.1854	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053618	0.36277	.	.	ENSG00000124203	ENST00000371030	T	0.06068	3.35	5.21	3.26	0.37387	.	0.117279	0.38326	N	0.001723	T	0.02929	0.0087	N	0.12746	0.255	0.26098	N	0.98086	B	0.30664	0.289	B	0.25987	0.065	T	0.38908	-0.9639	10	0.40728	T	0.16	-25.3256	2.2315	0.03997	0.1538:0.1688:0.5035:0.1739	.	618	Q5JPB2	ZN831_HUMAN	D	618	ENSP00000360069:E618D	ENSP00000360069:E618D	E	+	3	2	ZNF831	57201323	0.991000	0.36638	1.000000	0.80357	0.941000	0.58515	0.311000	0.19380	0.582000	0.29556	0.655000	0.94253	GAG	ZNF831	-	NULL	ENSG00000124203		0.592	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	36	0	G	NM_178457		57767928	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	38.46	8	5	SNP	1.000	C	C	57767928	G	C	57767928	3	2	37	1	0	0	0	0	1	0	0	0	18233	933	33	5	1856	5	ZNF831	20	57767928	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	1684188	57767928	5257592	275	9121											
SLC37A1	54020	genome.wustl.edu	37	chr21	43955658	43955658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccgtggggatgtacctCaggtaggtctccttcagttt	6	14	12	9	1	3	0	2	0	1	0	4	1	3	1	3	4	2	3	3	4	3	5	rs199619177		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr21:43955658C>A	ENST00000352133.2	+	5	1330	c.348C>A	c.(346-348)ctC>ctA	p.L116L	SLC37A1_ENST00000398341.3_Silent_p.L116L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	116					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGATGTACCTCAGGTAGGTCT	0.542																																																	0													156	150	152					21																	43955658		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"Solute carriers"	11024	protein-coding gene	gene with protein product		608094	"solute carrier family 37 (glycerol-3-phosphate transporter), member 1"			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.348C>A	21.37:g.43955658C>A			D3DSJ7|Q9HAQ1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L116	ENST00000352133.2	37	c.348	CCDS13689.1	21																																																																																			SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000160190		0.542	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	-	0	96	0	C			43955658	1	tier1	rs199619177	no_errors	ENST00000352133	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.997	A	A	43955658	C	A	43955658	2	1	37	1	0	0	0	0	0	0	0	1	14642	813	29	3		3	SLC37A1	21	43955658	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		43955658	4174237	276	9122											
SLC19A1	6573	genome.wustl.edu	37	chr21	46950838	46950838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcagcttggaccagcGcgcccagcggatcttcacga	9	6	13	13	4	2	1	1	1	1	0	2	5	2	3	2	2	4	2	2	2	0	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr21:46950838G>A	ENST00000311124.4	-	4	1149	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	SLC19A1_ENST00000380010.4_Missense_Mutation_p.R333C|SLC19A1_ENST00000485649.2_Missense_Mutation_p.R293C|SLC19A1_ENST00000567670.1_Missense_Mutation_p.R333C	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	333					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	TTGGACCAGCGCGCCCAGCGG	0.716																																																	0													18	19	19					21																	46950838		2191	4289	6480	SO:0001583	missense	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.997C>T	21.37:g.46950838G>A	ENSP00000308895:p.Arg333Cys		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.R333C	ENST00000311124.4	37	c.997	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	g	10.79	1.449231	0.26074	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.84298	-1.83;-1.83;-1.83	4.16	1.05	0.20165	Major facilitator superfamily domain, general substrate transporter (1);	0.610874	0.15514	N	0.258373	T	0.81645	0.4866	L	0.61036	1.89	0.27796	N	0.942648	D;D;B;P	0.57571	0.98;0.98;0.041;0.866	P;P;B;P	0.44897	0.463;0.463;0.017;0.463	T	0.74109	-0.3771	10	0.62326	D	0.03	-8.8755	6.8145	0.23822	0.18:0.1442:0.6758:0.0	.	293;355;333;333	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	C	80;333;333;293	ENSP00000308895:R333C;ENSP00000369347:R333C;ENSP00000441772:R293C	ENSP00000308895:R333C	R	-	1	0	SLC19A1	45775266	0.004000	0.15560	0.308000	0.25141	0.042000	0.13812	-0.051000	0.11885	0.338000	0.23692	0.289000	0.19496	CGC	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.716	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	-	0	33	0	G			46950838	-1	tier1	-	no_errors	ENST00000311124	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.298	A	A	46950838	G	A	46950838	3	1	37	1	0	0	0	0	1	0	0	0	14473	1087	38	1	790	1	SLC19A1	21	46950838	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2995180	46950838	1179057	277	9123											
HMGXB4	10042	genome.wustl.edu	37	chr22	35659857	35659857	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcactcctctgatgattaCtactatggaggtgaggatgg	11	11	12	7	0	1	3	0	3	1	0	2	5	2	5	1	4	3	1	1	4	4	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr22:35659857C>G	ENST00000216106.5	+	4	377	c.249C>G	c.(247-249)taC>taG	p.Y83*	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	83					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGATGATTACTACTATGGAG	0.453																																																	0													128	109	115					22																	35659857		2203	4300	6503	SO:0001587	stop_gained	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.249C>G	22.37:g.35659857C>G	ENSP00000216106:p.Tyr83*		O75672|O75673|Q9UMT5	Nonsense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Y83*	ENST00000216106.5	37	c.249	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796573	0.90453	.	.	ENSG00000100281	ENST00000216106	.	.	.	6.02	3.88	0.44766	.	0.409704	0.27811	N	0.017754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2516	9.7458	0.40446	0.0:0.8343:0.0:0.1657	.	.	.	.	X	83	.	ENSP00000216106:Y83X	Y	+	3	2	HMGXB4	33989857	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.499000	0.53310	0.807000	0.34208	-0.355000	0.07637	TAC	HMGXB4	-	NULL	ENSG00000100281		0.453	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	-	0	53	0	C	NM_005487		35659857	1	tier1	-	no_errors	ENST00000216106	ensembl	human	known	74_37	nonsense	21.54	51	14	SNP	1.000	G	G	35659857	C	G	35659857	4	3	37	1	0	0	0	0	0	1	0	0	7266	576	20	5	259	5	HMGXB4	22	35659857	Nonsense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09		35659857	15644709	278	9124											
MFNG	4242	genome.wustl.edu	37	chr22	37875509	37875509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcccttgggttcacataGttgtcatcgtccacatggca	8	11	10	12	2	2	0	2	0	0	0	4	0	3	0	2	2	1	3	2	2	1	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr22:37875509G>A	ENST00000356998.3	-	4	658	c.435C>T	c.(433-435)aaC>aaT	p.N145N	MFNG_ENST00000416983.3_Silent_p.N131N	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	145					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GGTTCACATAGTTGTCATCGT	0.612																																																	0													82	70	74					22																	37875509		2203	4300	6503	SO:0001819	synonymous_variant	0			BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"Beta 3-glycosyltransferases"	7038	protein-coding gene	gene with protein product		602577	"manic fringe (Drosophila) homolog", "manic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.435C>T	22.37:g.37875509G>A			B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	pfam_Fringe-like	p.T129I	ENST00000356998.3	37	c.386	CCDS13947.1	22																																																																																			MFNG	-	NULL	ENSG00000100060		0.612	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFNG	HGNC	protein_coding	OTTHUMT00000318902.1	-	0	103	0	G	NM_002405		37875509	-1	tier1	-	no_errors	ENST00000438891	ensembl	human	known	74_37	missense	20.83	57	15	SNP	1.000	A	A	37875509	G	A	37875509	2	1	37	1	0	0	0	0	0	0	0	1	9563	1020	36	3		3	MFNG	22	37875509	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	2215652	37875509	13429057	279	9125											
EP300	2033	genome.wustl.edu	37	chr22	41564862	41564862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctctgactgccctccacCcaaccagaggtatgactagc	9	8	9	15	0	1	3	0	2	1	1	2	3	2	3	4	2	3	2	4	2	3	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr22:41564862C>A	ENST00000263253.7	+	25	5382	c.4163C>A	c.(4162-4164)cCc>cAc	p.P1388H	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1388	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCCCTCCACCCAACCAGAGG	0.458			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													164	146	152					22																	41564862		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4163C>A	22.37:g.41564862C>A	ENSP00000263253:p.Pro1388His		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P1388H	ENST00000263253.7	37	c.4163	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524272	0.85600	.	.	ENSG00000100393	ENST00000263253	D	0.93659	-3.26	5.95	5.95	0.96441	.	0.000000	0.48286	D	0.000184	D	0.97726	0.9254	M	0.93062	3.375	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97953	1.0333	10	0.87932	D	0	-8.4055	20.3748	0.98911	0.0:1.0:0.0:0.0	.	1388	Q09472	EP300_HUMAN	H	1388	ENSP00000263253:P1388H	ENSP00000263253:P1388H	P	+	2	0	EP300	39894808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.734000	0.84928	2.817000	0.96982	0.563000	0.77884	CCC	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.458	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	61	0	C	NM_001429		41564862	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	41564862	C	A	41564862	3	1	37	1	0	0	0	0	1	0	0	0	5164	623	22	3	4261	3	EP300	22	41564862	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	3689353	41564862	9739704	280	9126											
MIOX	55586	genome.wustl.edu	37	chr22	50926323	50926323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccgccagcatgcccaGtttgggggcttctcctacaa	6	10	9	16	1	1	0	0	0	1	0	3	0	2	0	5	2	3	3	5	2	2	4			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chr22:50926323G>T	ENST00000216075.6	+	4	260	c.186G>T	c.(184-186)caG>caT	p.Q62H	MIOX_ENST00000395733.3_Missense_Mutation_p.Q62H|MIOX_ENST00000395732.3_Missense_Mutation_p.Q62H	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	62					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCATGCCCAGTTTGGGGGCT	0.632																																																	0													41	46	45					22																	50926323		2203	4300	6503	SO:0001583	missense	0			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"kidney-specific protein 32"	606774	"aldehyde reductase (aldose reductase) like 6"	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.186G>T	22.37:g.50926323G>T	ENSP00000216075:p.Gln62His		Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	pfam_Inositol_oxygenase	p.Q62H	ENST00000216075.6	37	c.186	CCDS14092.1	22	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543237	0.27563	.	.	ENSG00000100253	ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	4.38	3.33	0.38152	.	0.186064	0.45867	D	0.000332	T	0.52901	0.1763	L	0.33339	1.005	0.43448	D	0.995635	D;B;B	0.71674	0.998;0.083;0.006	D;B;B	0.64877	0.93;0.028;0.019	T	0.46830	-0.9163	9	0.32370	T	0.25	-26.2818	6.925	0.24410	0.2066:0.0:0.7934:0.0	.	62;62;62	Q9UGB7-2;A6PVH2;Q9UGB7	.;.;MIOX_HUMAN	H	62;62;62;57	.	ENSP00000216075:Q62H	Q	+	3	2	MIOX	49273189	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	1.712000	0.37940	2.243000	0.73865	0.491000	0.48974	CAG	MIOX	-	pfam_Inositol_oxygenase	ENSG00000100253		0.632	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOX	HGNC	protein_coding	OTTHUMT00000316835.1	-	0	54	0	G	NM_017584		50926323	1	tier1	-	no_errors	ENST00000216075	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	50926323	G	T	50926323	3	4	37	1	0	0	0	0	1	0	0	0	9628	1020	36	3	200	3	MIOX	22	50926323	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	9361461	50926323	378243	281	9127											
CASK	8573	genome.wustl.edu	37	chrX	41524635	41524635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaccgcacccccagacGtctacaggctttccgtaagg	10	7	8	16	3	2	1	1	0	1	1	3	1	3	1	4	2	1	3	4	2	2	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:41524635G>T	ENST00000378163.1	-	7	1077	c.603C>A	c.(601-603)gaC>gaA	p.D201E	CASK_ENST00000421587.2_Missense_Mutation_p.D201E|CASK_ENST00000378166.4_Missense_Mutation_p.D201E|CASK_ENST00000378154.1_Missense_Mutation_p.D201E|CASK_ENST00000378158.1_Missense_Mutation_p.D201E|CASK_ENST00000318588.9_Missense_Mutation_p.D201E|CASK_ENST00000361962.4_Missense_Mutation_p.D201E|CASK_ENST00000442742.2_Missense_Mutation_p.D201E			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ACCCCCAGACGTCTACAGGCT	0.413																																					NSCLC(42;104 1086 3090 27189 35040)												0													102	83	89					X																	41524635		2203	4300	6503	SO:0001583	missense	0			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"trinucleotide repeat containing 8"	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.603C>A	X.37:g.41524635G>T	ENSP00000367405:p.Asp201Glu		A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like	p.D201E	ENST00000378163.1	37	c.603		X	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069139	0.76301	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	D;D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.73	-4.01	0.04045	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.92945	0.7755	H	0.95437	3.67	0.80722	D	1	D;P;D;D	0.89917	1.0;0.937;1.0;1.0	D;D;D;D	0.97110	0.993;0.915;1.0;1.0	D	0.91964	0.5581	10	0.87932	D	0	.	12.7745	0.57439	0.6455:0.0:0.3545:0.0	.	201;201;201;201	O14936-3;O14936-4;O14936-2;O14936	.;.;.;CSKP_HUMAN	E	201	ENSP00000400526:D201E;ENSP00000322727:D201E;ENSP00000354641:D201E;ENSP00000367405:D201E;ENSP00000367400:D201E;ENSP00000367408:D201E;ENSP00000398007:D201E;ENSP00000367396:D201E	ENSP00000322727:D201E	D	-	3	2	CASK	41409579	1.000000	0.71417	0.948000	0.38648	0.968000	0.65278	0.943000	0.29030	-0.889000	0.03950	-1.261000	0.01458	GAC	CASK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000147044		0.413	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	-	0	48	0	G	NM_003688		41524635	-1	tier1	-	no_errors	ENST00000378163	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.971	T	T	41524635	G	T	41524635	3	4	37	1	0	0	0	0	1	0	0	0	2672	1136	40	2	2261	2	CASK	23	41524635	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09		41524635	113745925	282	9128											
PHF16	9767	genome.wustl.edu	37	chrX	46917885	46917885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgcttggagaaccccGtcctcggagtgctatcatgg	7	10	12	12	2	1	1	1	0	0	1	4	3	3	2	4	3	3	2	4	3	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:46917885G>A	ENST00000218343.4	+	11	2176	c.1878G>A	c.(1876-1878)ccG>ccA	p.P626P	PHF16_ENST00000397189.1_Silent_p.P626P	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGAGAACCCCGTCCTCGGAGT	0.537																																																	0													60	56	57					X																	46917885		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000218343.4:c.1878G>A	X.37:g.46917885G>A				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P626	ENST00000218343.4	37	c.1878	CCDS14271.1	X																																																																																			PHF16	-	NULL	ENSG00000102221		0.537	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	-	0	38	0	G			46917885	1	tier1	-	no_errors	ENST00000218343	ensembl	human	known	74_37	silent	28.57	25	10	SNP	0.024	A	A	46917885	G	A	46917885	2	1	37	1	0	0	0	0	0	0	0	1	11866	1132	40	1		1	PHF16	23	46917885	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	5393250	46917885	108352675	283	9129											
RBM10	8241	genome.wustl.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-																															gactatcggaccgagcaaggGgaggaggaggaggaggagga																										TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)												0									,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.E116in_frame_del	ENST00000377604.3	37	c.336_338	CCDS14274.1	X																																																																																			RBM10	-	NULL	ENSG00000182872		0.66	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1		0	49	0	GGA	NM_005676		47030563	1	tier1		no_errors	ENST00000377604	ensembl	human	known	74_37	in_frame_del	11.54	23	3	DEL	1.000:1.000:1.000	-	-	47030563	GGA	-	47030561	7	5	37	1	0	1	0	1	0	0	0	0	13156	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-JY-A6FD-01A-11D-A33E-09	112676	47030561	108239999	284	9130											
WDR45	11152	genome.wustl.edu	37	chrX	48935401	48935401	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgctgcccacctgctCgtggtctggacagggaccag	6	7	13	15	1	1	0	0	0	1	0	2	2	1	2	4	3	3	2	4	3	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:48935401C>A	ENST00000376372.3	-	4	317	c.136G>T	c.(136-138)Gag>Tag	p.E46*	WDR45_ENST00000473974.1_Nonsense_Mutation_p.E46*|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000485908.1_Intron|WDR45_ENST00000322995.8_Nonsense_Mutation_p.E46*|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000465431.1_Intron|WDR45_ENST00000396681.4_Nonsense_Mutation_p.E46*|WDR45_ENST00000376368.2_Nonsense_Mutation_p.E46*|WDR45_ENST00000356463.3_Nonsense_Mutation_p.E46*	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	46					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CCCACCTGCTCGTGGTCTGGA	0.622																																																	0													52	32	39					X																	48935401		2202	4298	6500	SO:0001587	stop_gained	0			BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"WD repeat domain containing"	28912	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 5"	300526	"WD repeat domain, X-linked 1"	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.136G>T	X.37:g.48935401C>A	ENSP00000365551:p.Glu46*		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.E46*	ENST00000376372.3	37	c.136	CCDS35250.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.845769|4.845769	0.91197|0.91197	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000474053;ENST00000419567;ENST00000465382;ENST00000423215|ENST00000367375	.|.	.|.	.|.	3.71|3.71	3.71|3.71	0.42584|0.42584	.|.	0.129453|.	0.50627|.	D|.	0.000112|.	.|T	.|0.68833	.|0.3044	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68716	.|-0.5335	.|4	0.08381|.	T|.	0.77|.	-24.1195|-24.1195	14.3421|14.3421	0.66633|0.66633	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	46|2	.|.	ENSP00000365543:E46X|.	E|R	-|-	1|2	0|0	WDR45|WDR45	48822345|48822345	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.976000|0.976000	0.68499|0.68499	6.908000|6.908000	0.75730|0.75730	2.111000|2.111000	0.64477|0.64477	0.529000|0.529000	0.55759|0.55759	GAG|CGA	WDR45	-	superfamily_WD40_repeat_dom	ENSG00000196998		0.622	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR45	HGNC	protein_coding	OTTHUMT00000083418.2	-	0	50	0	C	NM_007075		48935401	-1	tier1	-	no_errors	ENST00000322995	ensembl	human	known	74_37	nonsense	27.59	21	8	SNP	1.000	A	A	48935401	C	A	48935401	4	1	37	1	0	0	0	0	0	1	0	0	17346	893	31	2	981	2	WDR45	23	48935401	Nonsense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	1904840	48935401	106335159	285	9131											
IQSEC2	23096	genome.wustl.edu	37	chrX	53268414	53268414	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcatgtgcatttccacgagGgggaaagactgacggaaact	12	8	13	8	2	0	2	0	1	0	1	1	5	1	4	1	3	3	2	1	3	2	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:53268414G>C	ENST00000375368.5	-	10	3248	c.3048C>G	c.(3046-3048)ccC>ccG	p.P1016P	IQSEC2_ENST00000375365.2_Silent_p.P821P|IQSEC2_ENST00000396435.3_Silent_p.P1026P			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1016	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TTTCCACGAGGGGGAAAGACT	0.512											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114	103	107					X																	53268414		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3048C>G	X.37:g.53268414G>C		991	B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.P1026	ENST00000375368.5	37	c.3078		X																																																																																			IQSEC2	-	smart_Pleckstrin_homology	ENSG00000124313		0.512	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		-	0	104	0	G	XM_291345		53268414	-1	tier1	-	no_errors	ENST00000396435	ensembl	human	known	74_37	silent	23.66	71	22	SNP	0.970	C	C	53268414	G	C	53268414	2	2	37	1	0	0	0	0	0	0	0	1	7845	1219	43	5		5	IQSEC2	23	53268414	Silent	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	4333013	53268414	102002146	286	9132											
SPIN4	139886	genome.wustl.edu	37	chrX	62570563	62570563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccttccagccgtgttGaatgcggcagcccacgatgt	6	10	11	14	3	0	1	0	1	0	0	2	2	2	1	5	1	3	2	5	1	1	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:62570563G>T	ENST00000335144.3	-	1	655	c.136C>A	c.(136-138)Caa>Aaa	p.Q46K	SPIN4_ENST00000374884.2_Missense_Mutation_p.Q28K|SPIN4-AS1_ENST00000451979.1_RNA	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	46					gamete generation (GO:0007276)					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGCCGTGTTGAATGCGGCAG	0.542																																																	0													42	42	42					X																	62570563		2065	4174	6239	SO:0001583	missense	0			AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.136C>A	X.37:g.62570563G>T	ENSP00000334163:p.Gln46Lys		B3KX90|Q5JUL2	Missense_Mutation	SNP	pfam_Spin_Ssty	p.Q46K	ENST00000335144.3	37	c.136	CCDS43964.1	X	.	.	.	.	.	.	.	.	.	.	.	24.9	4.587025	0.86851	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.47869	0.83;0.83	3.9	3.9	0.45041	.	0.000000	0.64402	D	0.000001	T	0.55909	0.1950	M	0.72894	2.215	0.54753	D	0.999986	P	0.51653	0.947	P	0.50570	0.644	T	0.63484	-0.6627	10	0.72032	D	0.01	-33.3085	12.9049	0.58145	0.0:0.0:1.0:0.0	.	46	Q56A73	SPIN4_HUMAN	K	28;46	ENSP00000364018:Q28K;ENSP00000334163:Q46K	ENSP00000334163:Q46K	Q	-	1	0	SPIN4	62487288	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.908000	0.87438	2.203000	0.70933	0.422000	0.28245	CAA	SPIN4	-	pfam_Spin_Ssty	ENSG00000186767		0.542	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN4	HGNC	protein_coding		-	0	55	0	G	NM_001012968		62570563	-1	tier1	-	no_errors	ENST00000335144	ensembl	human	known	74_37	missense	18.75	38	9	SNP	1.000	T	T	62570563	G	T	62570563	3	4	37	1	0	0	0	0	1	0	0	0	15103	1299	45	3	617	3	SPIN4	23	62570563	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	9302149	62570563	92699997	287	9133											
MED12	9968	genome.wustl.edu	37	chrX	70339933	70339933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacagtgcctgtgatgcggGctgcctggctcattaagatg	8	10	13	10	1	1	2	1	1	0	1	1	2	1	2	2	2	3	2	2	2	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:70339933G>T	ENST00000374080.3	+	4	498	c.466G>T	c.(466-468)Gct>Tct	p.A156S	MED12_ENST00000333646.6_Missense_Mutation_p.A156S|MED12_ENST00000374102.1_Missense_Mutation_p.A156S			Q93074	MED12_HUMAN	mediator complex subunit 12	156					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGTGATGCGGGCTGCCTGGCT	0.473			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													117	113	114					X																	70339933		2030	4167	6197	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.466G>T	X.37:g.70339933G>T	ENSP00000363193:p.Ala156Ser		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.A156S	ENST00000374080.3	37	c.466	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	16.47	3.133077	0.56828	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.78003	-1.14;-1.11;-1.12;-0.96	5.09	5.09	0.68999	Mediator complex, subunit Med12 (1);	0.066777	0.64402	D	0.000008	T	0.75481	0.3855	L	0.52573	1.65	0.42620	D	0.993348	B;B;B;B	0.30889	0.254;0.036;0.073;0.299	B;B;B;B	0.34824	0.12;0.012;0.046;0.19	T	0.76921	-0.2780	10	0.59425	D	0.04	-12.8808	15.7853	0.78297	0.0:0.0:1.0:0.0	.	156;3;156;156	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	S	156;156;156;156;124	ENSP00000333125:A156S;ENSP00000363215:A156S;ENSP00000363193:A156S;ENSP00000414203:A124S	ENSP00000333125:A156S	A	+	1	0	MED12	70256658	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	6.973000	0.76116	2.348000	0.79779	0.600000	0.82982	GCT	MED12	-	pfam_Mediator_Med12	ENSG00000184634		0.473	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	-	0	37	0	G	NM_005120		70339933	1	tier1	-	no_errors	ENST00000333646	ensembl	human	known	74_37	missense	18.00	41	9	SNP	1.000	T	T	70339933	G	T	70339933	3	4	37	1	0	0	0	0	1	0	0	0	9466	1203	42	3	480	3	MED12	23	70339933	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	7769370	70339933	84930627	288	9134											
NLGN3	54413	genome.wustl.edu	37	chrX	70367646	70367646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtccctgagccccaagcCcacggttggcaggagcctgt	6	7	13	15	1	0	1	0	1	0	0	1	2	1	2	5	3	3	3	5	3	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:70367646C>A	ENST00000358741.3	+	2	350	c.47C>A	c.(46-48)cCc>cAc	p.P16H	NLGN3_ENST00000536169.1_Missense_Mutation_p.P16H|NLGN3_ENST00000374051.3_Missense_Mutation_p.P16H	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	16					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGCCCCAAGCCCACGGTTGGC	0.662																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													23	21	21					X																	70367646		2203	4300	6503	SO:0001583	missense	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.47C>A	X.37:g.70367646C>A	ENSP00000351591:p.Pro16His		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P16H	ENST00000358741.3	37	c.47	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	9.869	1.198367	0.22037	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.68903	-0.12;-0.14;-0.36;-0.13	4.56	2.79	0.32731	.	0.540066	0.19802	N	0.105728	T	0.38904	0.1058	N	0.08118	0	0.21933	N	0.999467	B;P;B	0.40144	0.291;0.704;0.415	B;B;B	0.33392	0.078;0.047;0.163	T	0.20940	-1.0260	10	0.45353	T	0.12	.	7.0292	0.24956	0.0:0.6778:0.0:0.3222	.	16;16;16	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	H	16	ENSP00000445298:P16H;ENSP00000363163:P16H;ENSP00000379196:P16H;ENSP00000351591:P16H	ENSP00000351591:P16H	P	+	2	0	NLGN3	70284371	1.000000	0.71417	0.994000	0.49952	0.880000	0.50808	2.221000	0.42917	0.390000	0.25115	0.529000	0.55759	CCC	NLGN3	-	NULL	ENSG00000196338		0.662	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	-	0	81	0	C	NM_018977		70367646	1	tier1	-	no_errors	ENST00000358741	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.935	A	A	70367646	C	A	70367646	3	1	37	1	0	0	0	0	1	0	0	0	10502	623	22	3	49	3	NLGN3	23	70367646	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	27713	70367646	84902914	289	9135											
ZDHHC15	158866	genome.wustl.edu	37	chrX	74644566	74644566	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaaaaacatgcaggcCacaaagagaagaaaaaggac	22	2	9	8	0	0	3	0	1	0	2	0	5	0	4	1	2	2	1	1	2	7	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:74644566C>A	ENST00000373367.3	-	8	887	c.657G>T	c.(655-657)gtG>gtT	p.V219V	ZDHHC15_ENST00000541184.1_Silent_p.V210V|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.W179L	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	219					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						ACATGCAGGCCACAAAGAGAA	0.378																																																	0													85	64	71					X																	74644566		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.657G>T	X.37:g.74644566C>A			B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.W179L	ENST00000373367.3	37	c.536	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	C	6.932	0.541767	0.13250	.	.	ENSG00000102383	ENST00000373361	T	0.17054	2.3	5.58	4.69	0.59074	.	.	.	.	.	T	0.13927	0.0337	.	.	.	0.35756	D	0.819762	.	.	.	.	.	.	T	0.07481	-1.0770	6	0.07644	T	0.81	-16.4706	14.555	0.68094	0.0:0.8569:0.1431:0.0	.	.	.	.	L	179	ENSP00000362459:W179L	ENSP00000362459:W179L	W	-	2	0	ZDHHC15	74561291	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.712000	0.37940	1.194000	0.43101	0.600000	0.82982	TGG	ZDHHC15	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000102383		0.378	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	-	0	63	0	C	NM_144969		74644566	-1	tier1	-	no_errors	ENST00000373361	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	A	A	74644566	C	A	74644566	2	1	37	1	0	0	0	0	0	0	0	1	17653	581	21	3		3	ZDHHC15	23	74644566	Silent	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	4276920	74644566	80625994	290	9136											
PCDH11X	27328	genome.wustl.edu	37	chrX	91642828	91642828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgcaggcagccttaccaGcacatctcatggcctgcccc	8	8	9	16	0	1	1	1	1	1	0	2	1	1	1	5	2	5	3	5	2	1	1			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:91642828G>T	ENST00000373094.1	+	5	4084	c.3239G>T	c.(3238-3240)aGc>aTc	p.S1080I	PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1070I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1070I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1043I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1080I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1043I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1080					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGCCTTACCAGCACATCTCAT	0.557																																					NSCLC(38;925 1092 2571 38200 45895)												0													192	147	162					X																	91642828		2201	4298	6499	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3239G>T	X.37:g.91642828G>T	ENSP00000362186:p.Ser1080Ile		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1080I	ENST00000373094.1	37	c.3239	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042498	0.35989	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.58797	0.31;0.52;0.34;0.47;0.42;0.34	3.56	3.56	0.40772	.	0.000000	0.56097	U	0.000024	T	0.62073	0.2398	L	0.57536	1.79	0.31657	N	0.646004	D;P;P;P;P	0.54964	0.969;0.936;0.936;0.936;0.894	P;P;P;P;P	0.54629	0.757;0.692;0.692;0.692;0.495	T	0.68580	-0.5371	10	0.72032	D	0.01	.	7.9813	0.30185	0.1202:0.0:0.8798:0.0	.	1043;1070;1080;1070;1080	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	I	1080;1070;1043;1070;1080;1080;1043	ENSP00000362186:S1080I;ENSP00000362189:S1070I;ENSP00000362180:S1043I;ENSP00000355105:S1070I;ENSP00000384758:S1080I;ENSP00000298274:S1043I	ENSP00000298274:S1043I	S	+	2	0	PCDH11X	91529484	1.000000	0.71417	0.990000	0.47175	0.198000	0.23893	6.912000	0.75753	1.376000	0.46267	0.502000	0.49764	AGC	PCDH11X	-	NULL	ENSG00000102290		0.557	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	83	0	G	NM_032969		91642828	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	91642828	G	T	91642828	3	4	37	1	0	0	0	0	1	0	0	0	11547	971	34	3	3379	3	PCDH11X	23	91642828	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	16998262	91642828	63627732	291	9137											
PCDH19	57526	genome.wustl.edu	37	chrX	99661722	99661722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccgaaggtgcgggtggttCtgacttcgccattgacctgg	5	10	14	12	3	1	2	0	2	1	0	2	3	1	2	4	4	1	1	4	4	1	3			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:99661722C>T	ENST00000373034.4	-	1	3549	c.1874G>A	c.(1873-1875)aGa>aAa	p.R625K	PCDH19_ENST00000420881.2_Missense_Mutation_p.R625K|PCDH19_ENST00000255531.7_Missense_Mutation_p.R625K	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCGGGTGGTTCTGACTTCGCC	0.572																																																	0													60	60	60					X																	99661722		2045	4174	6219	SO:0001583	missense	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1874G>A	X.37:g.99661722C>T	ENSP00000362125:p.Arg625Lys		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R625K	ENST00000373034.4	37	c.1874	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497106	0.64186	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.50001	0.76;0.76;0.76	5.84	5.84	0.93424	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	L	0.57536	1.79	0.58432	D	0.999998	D;P;P	0.69078	0.997;0.815;0.846	D;P;P	0.80764	0.994;0.55;0.679	T	0.67352	-0.5692	10	0.56958	D	0.05	.	19.0738	0.93151	0.0:1.0:0.0:0.0	.	625;625;625	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	K	625	ENSP00000400327:R625K;ENSP00000362125:R625K;ENSP00000255531:R625K	ENSP00000255531:R625K	R	-	2	0	PCDH19	99548378	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.920000	0.70017	2.454000	0.82982	0.513000	0.50165	AGA	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.572	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	-	0	37	0	C	NM_020766		99661722	-1	tier1	-	no_errors	ENST00000373034	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	T	T	99661722	C	T	99661722	3	4	37	1	0	0	0	0	1	0	0	0	11553	913	32	3	1596	3	PCDH19	23	99661722	Missense_Mutation	SNP	C	TCGA-JY-A6FD-01A-11D-A33E-09	8018894	99661722	55608838	292	9138											
MID2	11043	genome.wustl.edu	37	chrX	107084038	107084038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcccttgtgctcacaGcctctgcttcagctgtgccc	3	13	8	17	0	4	0	2	0	2	0	5	0	5	0	3	0	6	4	3	0	0	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:107084038G>A	ENST00000262843.6	+	2	691	c.143G>A	c.(142-144)aGc>aAc	p.S48N	MID2_ENST00000443968.2_Missense_Mutation_p.S48N	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	48					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGCTCACAGCCTCTGCTTC	0.483																																																	0													175	160	165					X																	107084038		2203	4300	6503	SO:0001583	missense	0				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.143G>A	X.37:g.107084038G>A	ENSP00000262843:p.Ser48Asn		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S48N	ENST00000262843.6	37	c.143	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473049	0.43942	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.17854	2.25;2.25;2.25	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.16557	0.0398	N	0.11023	0.085	0.51233	D	0.999912	P;P	0.44946	0.846;0.65	P;B	0.51777	0.679;0.421	T	0.18085	-1.0348	10	0.19147	T	0.46	.	16.1582	0.81680	0.0:0.0:1.0:0.0	.	48;48	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	N	28;48;48	ENSP00000410730:S28N;ENSP00000262843:S48N;ENSP00000413976:S48N	ENSP00000262843:S48N	S	+	2	0	MID2	106970694	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	9.813000	0.99286	2.506000	0.84524	0.600000	0.82982	AGC	MID2	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000080561		0.483	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	-	0	42	0	G	NM_012216		107084038	1	tier1	-	no_errors	ENST00000262843	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	A	A	107084038	G	A	107084038	3	1	37	1	0	0	0	0	1	0	0	0	9616	971	34	3	149	3	MID2	23	107084038	Missense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	7422316	107084038	48186522	293	9139											
AMOT	154796	genome.wustl.edu	37	chrX	112058941	112058941	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcctaggcaggtgagctGaatggtctccctggtttggg	5	10	17	9	1	1	2	0	2	1	0	2	2	1	2	2	6	1	3	2	6	2	2			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:112058941G>T	ENST00000524145.1	-	3	1111	c.1037C>A	c.(1036-1038)tCa>tAa	p.S346*	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Nonsense_Mutation_p.S114*|AMOT_ENST00000371962.1_Nonsense_Mutation_p.S114*|AMOT_ENST00000371959.3_Nonsense_Mutation_p.S346*			Q4VCS5	AMOT_HUMAN	angiomotin	346					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CAGGTGAGCTGAATGGTCTCC	0.582																																																	0													88	78	81					X																	112058941		692	1591	2283	SO:0001587	stop_gained	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1037C>A	X.37:g.112058941G>T	ENSP00000429013:p.Ser346*		Q504X5|Q9HD27|Q9UPT1	Nonsense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.S346*	ENST00000524145.1	37	c.1037	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.382733	0.95967	.	.	ENSG00000126016	ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	.	.	.	5.31	2.36	0.29203	.	0.672939	0.14090	N	0.342050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1746	7.7535	0.28911	0.0834:0.0:0.5423:0.3743	.	.	.	.	X	346;114;346;114	.	ENSP00000361026:S114X	S	-	2	0	AMOT	111945597	0.999000	0.42202	0.213000	0.23690	0.978000	0.69477	4.524000	0.60552	0.626000	0.30322	0.529000	0.55759	TCA	AMOT	-	NULL	ENSG00000126016		0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1		0	84	0	G	NM_133265		112058941	-1			no_errors	ENST00000371959	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.000	T	T	112058941	G	T	112058941	4	4	37	1	0	0	0	0	0	1	0	0	582	1294	45	3	2257	3	AMOT	23	112058941	Nonsense_Mutation	SNP	G	TCGA-JY-A6FD-01A-11D-A33E-09	4974903	112058941	43211619	294	9140											
GPR112	139378	genome.wustl.edu	37	chrX	135429986	135429987	+	Frame_Shift_Ins	INS	-	-	T																															caagctctgacaatcaccacINSttttttgtgtcctgaaaagg																								rs367750296		TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:135429986_135429987insT	ENST00000394143.1	+	6	4412_4413	c.4121_4122insT	c.(4120-4125)acttttfs	p.TF1374fs	GPR112_ENST00000412101.1_Frame_Shift_Ins_p.TF1169fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.TF1374fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.TF1311fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.TF1169fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1374					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAATCACCACTTTTTTGTGTC	0.46																																																	0																																										SO:0001589	frameshift_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4127dupT	X.37:g.135429992_135429992dupT	ENSP00000377699:p.Thr1374fs		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L1376fs	ENST00000394143.1	37	c.4121_4122	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.46	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1		0	39	0	-			135429987	1	tier1		no_errors	ENST00000370652	ensembl	human	known	74_37	frame_shift_ins	22.92	37	11	INS	0.029:0.014	T	T	135429987	-	T	135429986	7	5	37	1	0	1	1	0	0	0	0	0	6655	565	20	0	4131	0	GPR112	23	135429986	Frame_Shift_Ins	INS	-	TCGA-JY-A6FD-01A-11D-A33E-09	23371045	135429986	19840574	295	9141											
GPR112	139378	genome.wustl.edu	37	chrX	135430355	135430355	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaaatgtacctacaaTgcttcctagagaatcctcta	12	13	5	11	0	1	1	0	0	1	1	4	2	4	1	4	0	3	3	4	0	7	6			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:135430355T>C	ENST00000394143.1	+	6	4781	c.4490T>C	c.(4489-4491)aTg>aCg	p.M1497T	GPR112_ENST00000412101.1_Missense_Mutation_p.M1292T|GPR112_ENST00000370652.1_Missense_Mutation_p.M1497T|GPR112_ENST00000287534.4_Missense_Mutation_p.M1434T|GPR112_ENST00000394141.1_Missense_Mutation_p.M1292T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1497					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTACCTACAATGCTTCCTAGA	0.433																																																	0													90	85	86					X																	135430355		2203	4297	6500	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4490T>C	X.37:g.135430355T>C	ENSP00000377699:p.Met1497Thr		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.M1497T	ENST00000394143.1	37	c.4490	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	t	0	-2.597736	0.00125	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27256	1.71;1.71;1.68;1.82;1.68	2.81	-0.959	0.10343	.	.	.	.	.	T	0.08268	0.0206	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.34775	-0.9815	9	0.02654	T	1	.	2.8275	0.05489	0.2221:0.4743:0.0:0.3036	.	1434;1292;1497	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	T	1497;1497;1292;1434;1292	ENSP00000377699:M1497T;ENSP00000359686:M1497T;ENSP00000416526:M1292T;ENSP00000287534:M1434T;ENSP00000377697:M1292T	ENSP00000287534:M1434T	M	+	2	0	GPR112	135258021	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.041000	0.12084	-0.457000	0.07033	-0.668000	0.03835	ATG	GPR112	-	NULL	ENSG00000156920		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	53	0	T			135430355	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.000	C	C	135430355	T	C	135430355	3	2	37	1	0	0	0	0	1	0	0	0	6655	1464	51	4	4500	4	GPR112	23	135430355	Missense_Mutation	SNP	T	TCGA-JY-A6FD-01A-11D-A33E-09	369	135430355	19840205	296	9142											
HCFC1	3054	genome.wustl.edu	37	chrX	153219809	153219809	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggggctgctgcccAccctcgggctggcccgtgcc	3	5	15	18	2	0	0	0	0	0	0	1	0	0	0	5	4	4	4	5	4	0	0			TCGA-JY-A6FD-01A-11D-A33E-09	TCGA-JY-A6FD-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	32802aaf-3f39-4e84-8523-63a8702ee946	79c13e3f-d511-4ccf-a158-558a49b00f43	g.chrX:153219809A>G	ENST00000310441.7	-	17	5007	c.4041T>C	c.(4039-4041)ggT>ggC	p.G1347G	HCFC1_ENST00000354233.3_Silent_p.G1278G|HCFC1_ENST00000369984.4_Silent_p.G1347G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1347					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCTGCCCACCCTCGGGCT	0.687																																																	0													60	70	66					X																	153219809		2145	4210	6355	SO:0001819	synonymous_variant	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.4041T>C	X.37:g.153219809A>G			Q6P4G5	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.G1347	ENST00000310441.7	37	c.4041	CCDS44020.1	X																																																																																			HCFC1	-	NULL	ENSG00000172534		0.687	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	-	0	45	0	A	NM_005334		153219809	-1	tier1	-	no_errors	ENST00000310441	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.018	G	G	153219809	A	G	153219809	2	3	37	1	0	0	0	0	0	0	0	1	7018	146	6	4		4	HCFC1	23	153219809	Silent	SNP	A	TCGA-JY-A6FD-01A-11D-A33E-09	17789454	153219809	2050751	297	9143											
MRPL20	55052	genome.wustl.edu	37	chr1	1337597	1337597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctttggctcgtagatggCcagatccgctaggactttcc	7	12	11	11	2	1	2	0	0	1	2	4	3	3	3	3	3	0	3	3	3	2	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:1337597C>T	ENST00000344843.7	-	4	411	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	CCNL2_ENST00000400809.3_5'Flank|MRPL20_ENST00000493287.1_5'UTR|CCNL2_ENST00000408918.4_5'Flank	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	106					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTAGATGGCCAGATCCGCT	0.537																																																	0													88	82	84					1																	1337597		2203	4297	6500	SO:0001583	missense	0			AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"Mitochondrial ribosomal proteins / large subunits"	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.316G>A	1.37:g.1337597C>T	ENSP00000341082:p.Ala106Thr		B2RE41|B7Z746	Missense_Mutation	SNP	pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20	p.A106T	ENST00000344843.7	37	c.316	CCDS26.1	1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807874	0.70797	.	.	ENSG00000242485	ENST00000344843	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.87470	0.6185	H	0.97186	3.955	0.80722	D	1	D	0.54047	0.964	D	0.66196	0.942	D	0.91968	0.5584	9	0.87932	D	0	-9.4427	16.9051	0.86124	0.0:1.0:0.0:0.0	.	106	Q9BYC9	RM20_HUMAN	T	106	.	ENSP00000341082:A106T	A	-	1	0	MRPL20	1327460	1.000000	0.71417	0.993000	0.49108	0.416000	0.31233	6.407000	0.73280	2.231000	0.72958	0.467000	0.42956	GCC	MRPL20	-	pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20	ENSG00000242485		0.537	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL20	HGNC	protein_coding	OTTHUMT00000008139.1		0	22	0	C	NM_017971		1337597	-1			no_errors	ENST00000344843	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	1337597	C	T	1337597	3	4	38	1	0	0	0	0	1	0	0	0	9824	739	26	3	137	3	MRPL20	1	1337597	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09		1337597	247913024	1	9144											
C1orf127	148345	genome.wustl.edu	37	chr1	11017133	11017133	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgaccgctcaccagccatAgtggcaggagctcagcagag	10	5	14	12	1	2	2	2	1	0	1	2	3	2	3	3	3	3	4	3	3	1	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:11017133A>G	ENST00000377008.4	-	7	724				C1orf127_ENST00000377004.4_Missense_Mutation_p.L242P			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CACCAGCCATAGTGGCAGGAG	0.577																																																	0													26	37	34					1																	11017133		692	1591	2283	SO:0001627	intron_variant	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.277+508T>C	1.37:g.11017133A>G			A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.L242P	ENST00000377008.4	37	c.725		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.92|13.92	2.381232|2.381232	0.42207|0.42207	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004|ENST00000520253	T|.	0.39056|.	1.1|.	5.39|5.39	4.27|4.27	0.50696|0.50696	.|.	.|.	.|.	.|.	.|.	T|T	0.40498|0.40498	0.1119|0.1119	N|N	0.19112|0.19112	0.55|0.55	0.51012|0.51012	D|D	0.999904|0.999904	D;D|.	0.71674|.	0.998;0.998|.	P;P|.	0.56474|.	0.799;0.799|.	T|T	0.15093|0.15093	-1.0449|-1.0449	9|5	0.72032|.	D|.	0.01|.	.|.	9.4499|9.4499	0.38721|0.38721	0.916:0.0:0.084:0.0|0.916:0.0:0.084:0.0	.|.	93;93|.	B7ZLG7;Q8N9H9-2|.	.;.|.	P|H	242|220	ENSP00000366203:L242P|.	ENSP00000366203:L242P|.	L|Y	-|-	2|1	0|0	C1orf127|C1orf127	10939720|10939720	0.511000|0.511000	0.26179|0.26179	0.048000|0.048000	0.18961|0.18961	0.632000|0.632000	0.37999|0.37999	2.099000|2.099000	0.41767|0.41767	0.891000|0.891000	0.36235|0.36235	0.459000|0.459000	0.35465|0.35465	CTA|TAT	C1orf127	-	NULL	ENSG00000175262		0.577	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		-	0	55	0	A	NM_173507		11017133	-1	tier1	-	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.601	G	G	11017133	A	G	11017133	1	3	38	0	1	0	0	0	0	0	0	0	2001	420	15	4		4	C1orf127	1	11017133	Intron	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	9679536	11017133	238233488	2	9145											
MACF1	23499	genome.wustl.edu	37	chr1	39802265	39802265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaacaaactcccttcatGactgcacctgaaggaaaggg	14	7	10	10	0	1	3	1	3	0	0	2	4	2	4	2	2	3	1	2	2	4	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:39802265G>T	ENST00000372915.3	+	36	10107	c.10020G>T	c.(10018-10020)atG>atT	p.M3340I	MACF1_ENST00000564288.1_Missense_Mutation_p.M3335I|MACF1_ENST00000289893.4_Missense_Mutation_p.M1775I|MACF1_ENST00000567887.1_Missense_Mutation_p.M3372I|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3340					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCCTTCATGACTGCACCTG	0.458																																																	0													60	58	59					1																	39802265		2201	4299	6500	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10020G>T	1.37:g.39802265G>T	ENSP00000362006:p.Met3340Ile		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.M3372I	ENST00000372915.3	37	c.10116		1	.	.	.	.	.	.	.	.	.	.	G	7.410	0.634453	0.14322	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.60040	0.22;1.28	5.33	0.715	0.18186	.	2.007260	0.01809	N	0.033347	T	0.32852	0.0843	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12760	-1.0535	10	0.20046	T	0.44	.	0.7015	0.00908	0.2353:0.1888:0.3824:0.1935	.	3340	Q9UPN3	MACF1_HUMAN	I	3340;1775	ENSP00000362006:M3340I;ENSP00000289893:M1775I	ENSP00000289893:M1775I	M	+	3	0	MACF1	39574852	0.010000	0.17322	0.007000	0.13788	0.052000	0.14988	0.458000	0.21892	0.246000	0.21394	-1.314000	0.01303	ATG	MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	43	0	G	NM_033044		39802265	1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	5.88	64	4	SNP	0.006	T	T	39802265	G	T	39802265	3	4	38	1	0	0	0	0	1	0	0	0	9180	1290	45	3	10096	3	MACF1	1	39802265	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	28785132	39802265	209448356	3	9146											
CCDC30	728621	genome.wustl.edu	37	chr1	43110363	43110363	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgatttatgccattcttaGggtactttacatggataaag	12	15	8	6	0	1	1	0	1	1	0	1	2	1	2	1	2	3	1	1	2	6	8			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:43110363G>T	ENST00000340612.4	+	12	1775		c.e12-1		CCDC30_ENST00000342022.4_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site|CCDC30_ENST00000428554.2_Splice_Site|CCDC30_ENST00000507855.1_Splice_Site			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GCCATTCTTAGGGTACTTTAC	0.388																																																	0													64	61	62					1																	43110363		2203	4300	6503	SO:0001630	splice_region_variant	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1776-1G>T	1.37:g.43110363G>T			Q14F06|Q5VVM5	Splice_Site	SNP	-	e12-1	ENST00000340612.4	37	c.1776-1	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137852	0.56936	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9516	0.71080	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC30	42882950	1.000000	0.71417	0.985000	0.45067	0.659000	0.38960	4.951000	0.63610	2.657000	0.90304	0.655000	0.94253	.	CCDC30	-	-	ENSG00000186409		0.388	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	-	0	47	0	G	NM_025030	Intron	43110363	1	tier1	-	no_errors	ENST00000340612	ensembl	human	known	74_37	splice_site	7.27	51	4	SNP	0.983	T	T	43110363	G	T	43110363	5	4	38	1	0	0	0	0	0	0	1	0	2812	1014	35	3	1821	3	CCDC30	1	43110363	Splice_Site	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	3308098	43110363	206140258	4	9147											
PRDX1	5052	genome.wustl.edu	37	chr1	45977030	45977030	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagaaatattctttgcTcttttggacatcaggcttga	9	16	9	7	0	3	2	1	1	2	1	3	4	3	3	0	3	1	2	0	3	2	7	rs11544936		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:45977030T>G	ENST00000262746.1	-	6	910	c.571A>C	c.(571-573)Agc>Cgc	p.S191R	PRDX1_ENST00000372079.1_Missense_Mutation_p.S89R|PRDX1_ENST00000319248.8_Missense_Mutation_p.S191R	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	191				S -> T (in Ref. 2). {ECO:0000305}.	cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TATTCTTTGCTCTTTTGGACA	0.463																																																	0													207	215	212					1																	45977030		2203	4300	6503	SO:0001583	missense	0			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.571A>C	1.37:g.45977030T>G	ENSP00000262746:p.Ser191Arg		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.S191R	ENST00000262746.1	37	c.571	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	T	30	5.058131	0.93846	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.31247	1.5;1.5;1.5	5.04	5.04	0.67666	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.93420	3.415	0.80722	D	1	D	0.54601	0.967	P	0.58577	0.841	T	0.73839	-0.3856	10	0.87932	D	0	-16.3351	14.8036	0.69935	0.0:0.0:0.0:1.0	.	191	Q06830	PRDX1_HUMAN	R	191;191;89	ENSP00000262746:S191R;ENSP00000361152:S191R;ENSP00000361150:S89R	ENSP00000262746:S191R	S	-	1	0	PRDX1	45749617	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.800000	0.85949	1.900000	0.55004	0.379000	0.24179	AGC	PRDX1	-	pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	ENSG00000117450		0.463	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	-	0	23	0	T	NM_181697		45977030	-1	tier1	-	no_errors	ENST00000262746	ensembl	human	known	74_37	missense	65.38	9	17	SNP	1.000	G	G	45977030	T	G	45977030	3	3	38	1	0	0	0	0	1	0	0	0	12506	1551	54	4	32	4	PRDX1	1	45977030	Missense_Mutation	SNP	T	TCGA-JY-A6FE-01A-11D-A33E-09	2866667	45977030	203273591	5	9148											
LEPR	3953	genome.wustl.edu	37	chr1	66075771	66075771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcaatccagcctacacaGttgtcatggatataaaaggt	14	9	10	8	0	1	0	1	0	0	0	2	2	2	2	2	3	3	2	2	3	5	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:66075771G>T	ENST00000349533.6	+	13	2079	c.1894G>T	c.(1894-1896)Gtt>Ttt	p.V632F	LEPR_ENST00000371060.3_Missense_Mutation_p.V632F|LEPR_ENST00000371059.3_Missense_Mutation_p.V632F|LEPR_ENST00000344610.8_Missense_Mutation_p.V632F|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.V632F	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGCCTACACAGTTGTCATGGA	0.413																																																	0													120	115	117					1																	66075771		2203	4300	6503	SO:0001583	missense	0			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1894G>T	1.37:g.66075771G>T	ENSP00000330393:p.Val632Phe		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V632F	ENST00000349533.6	37	c.1894	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868650	0.51588	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.22	2.04	0.26737	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.365648	0.30879	N	0.008685	T	0.44456	0.1294	M	0.69823	2.125	0.09310	N	1	P;P;D	0.56035	0.923;0.862;0.974	P;P;P	0.55923	0.59;0.787;0.691	T	0.35624	-0.9781	10	0.72032	D	0.01	-1.9851	10.7765	0.46353	0.0712:0.3708:0.558:0.0	.	632;632;632	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	F	632	ENSP00000340884:V632F;ENSP00000330393:V632F;ENSP00000360099:V632F;ENSP00000360098:V632F;ENSP00000360097:V632F	ENSP00000340884:V632F	V	+	1	0	LEPR	65848359	0.012000	0.17670	0.023000	0.16930	0.855000	0.48748	0.997000	0.29731	0.543000	0.28864	0.650000	0.86243	GTT	LEPR	-	superfamily_Fibronectin_type3	ENSG00000116678		0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1		0	70	0	G	NM_002303		66075771	1			no_errors	ENST00000349533	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.001	T	T	66075771	G	T	66075771	3	4	38	1	0	0	0	0	1	0	0	0	8756	1029	36	3	1936	3	LEPR	1	66075771	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	20098741	66075771	183174850	6	9149											
CLCA4	22802	genome.wustl.edu	37	chr1	87031663	87031663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgaagatcagtcaaaGaattgtgtgcttagttcttg	11	15	10	5	0	3	3	2	1	1	2	3	3	3	3	0	0	2	3	0	0	4	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:87031663G>T	ENST00000370563.3	+	6	956	c.914G>T	c.(913-915)aGa>aTa	p.R305I	CLCA4_ENST00000263723.5_Missense_Mutation_p.R18I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	305					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		ATCAGTCAAAGAATTGTGTGC	0.423																																																	0													136	130	132					1																	87031663		1902	4131	6033	SO:0001583	missense	0			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"chloride channel, calcium activated, family member 4", "chloride channel regulator 4"			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.914G>T	1.37:g.87031663G>T	ENSP00000359594:p.Arg305Ile		A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.R305I	ENST00000370563.3	37	c.914	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.230529	0.95207	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	D;D	0.89196	-2.48;-2.48	6.17	6.17	0.99709	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	M	0.90082	3.085	0.58432	D	0.999995	D	0.56521	0.976	D	0.69654	0.965	D	0.95059	0.8194	10	0.72032	D	0.01	-38.0711	20.4745	0.99168	0.0:0.0:1.0:0.0	.	305	Q14CN2	CLCA4_HUMAN	I	305;18	ENSP00000359594:R305I;ENSP00000263723:R18I	ENSP00000263723:R18I	R	+	2	0	CLCA4	86804251	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.370000	0.79589	2.941000	0.99782	0.655000	0.94253	AGA	CLCA4	-	smart_VWF_A,tigrfam_CaCC_prot	ENSG00000016602		0.423	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	HGNC	protein_coding	OTTHUMT00000028292.1	-	0	71	0	G	NM_012128		87031663	1	tier1	-	no_errors	ENST00000370563	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.994	T	T	87031663	G	T	87031663	3	4	38	1	0	0	0	0	1	0	0	0	3466	942	33	3	936	3	CLCA4	1	87031663	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	20955892	87031663	162218958	7	9150											
DBT	1629	genome.wustl.edu	37	chr1	100680382	100680382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatctcacctttaagaaGaaaggcataaaggagagttt	17	10	9	5	0	1	4	1	1	1	3	2	5	1	4	1	2	0	2	1	2	6	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:100680382G>T	ENST00000370132.4	-	7	943	c.930C>A	c.(928-930)ttC>ttA	p.F310L	DBT_ENST00000370131.3_Missense_Mutation_p.F310L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	310					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		CCTTTAAGAAGAAAGGCATAA	0.373																																																	0													71	69	70					1																	100680382		2203	4300	6503	SO:0001583	missense	0			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.930C>A	1.37:g.100680382G>T	ENSP00000359151:p.Phe310Leu		B2R811|Q5VVL8	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.F310L	ENST00000370132.4	37	c.930	CCDS767.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886884	0.72410	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.42900	0.96;0.96	5.54	-0.167	0.13347	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.35364	0.0929	M	0.72353	2.195	0.80722	D	1	P;P	0.46277	0.501;0.875	B;P	0.50352	0.198;0.638	T	0.33752	-0.9856	10	0.46703	T	0.11	-15.3379	11.1288	0.48334	0.3851:0.0:0.6149:0.0	.	129;310	F5H1F9;P11182	.;ODB2_HUMAN	L	129;310;310	ENSP00000359151:F310L;ENSP00000359150:F310L	ENSP00000359150:F310L	F	-	3	2	DBT	100452970	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	2.231000	0.43009	0.060000	0.16281	0.655000	0.94253	TTC	DBT	-	pfam_2-oxoacid_DH_actylTfrase	ENSG00000137992		0.373	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBT	HGNC	protein_coding	OTTHUMT00000030101.2	-	0	31	0	G	NM_001918		100680382	-1	tier1	-	no_errors	ENST00000370132	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.999	T	T	100680382	G	T	100680382	3	4	38	1	0	0	0	0	1	0	0	0	4267	933	33	3	538	3	DBT	1	100680382	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	13648719	100680382	148570239	8	9151											
STXBP3	6814	genome.wustl.edu	37	chr1	109319002	109319002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcacagcttgttgaaaaaaAgcttgaagactactacaaga	17	9	8	7	0	0	4	0	2	0	2	0	4	0	4	0	0	5	4	0	0	7	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:109319002A>G	ENST00000370008.3	+	8	691	c.641A>G	c.(640-642)aAg>aGg	p.K214R	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	214	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GTTGAAAAAAAGCTTGAAGAC	0.313																																																	0													59	58	59					1																	109319002		2201	4300	6501	SO:0001583	missense	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.641A>G	1.37:g.109319002A>G	ENSP00000359025:p.Lys214Arg		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.K214R	ENST00000370008.3	37	c.641	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370656	0.61624	.	.	ENSG00000116266	ENST00000370008	T	0.78126	-1.15	5.97	5.97	0.96955	.	0.193186	0.52532	D	0.000062	T	0.67804	0.2932	L	0.45352	1.415	0.44079	D	0.996838	P	0.44946	0.846	P	0.46389	0.515	T	0.67428	-0.5673	10	0.26408	T	0.33	-4.3973	16.1087	0.81244	1.0:0.0:0.0:0.0	.	214	O00186	STXB3_HUMAN	R	214	ENSP00000359025:K214R	ENSP00000359025:K214R	K	+	2	0	STXBP3	109120525	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	4.223000	0.58587	2.281000	0.76405	0.533000	0.62120	AAG	STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000116266		0.313	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1		0	50	0	A	NM_007269		109319002	1			no_errors	ENST00000370008	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	G	G	109319002	A	G	109319002	3	3	38	1	0	0	0	0	1	0	0	0	15401	72	3	4	671	4	STXBP3	1	109319002	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	8638620	109319002	139931619	9	9152											
FAM72B	653820	genome.wustl.edu	37	chr1	120839839	120839839	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctgcgacgccatgtcTaccaacatttgtagtttcaa	9	13	6	13	2	2	0	1	0	1	0	3	1	3	0	4	0	3	2	4	0	4	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:120839839T>C	ENST00000369390.3	+	1	835	c.6T>C	c.(4-6)tcT>tcC	p.S2S	RP11-439A17.7_ENST00000412759.1_RNA|FAM72B_ENST00000355228.4_Silent_p.S2S|FAM72B_ENST00000471903.2_Intron	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	2										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		ACGCCATGTCTACCAACATTT	0.443																																																	0													6	7	7					1																	120839839		1624	3651	5275	SO:0001819	synonymous_variant	0			AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.6T>C	1.37:g.120839839T>C			B2RPQ5|Q5QP15	Silent	SNP	NULL	p.S2	ENST00000369390.3	37	c.6	CCDS41374.1	1																																																																																			FAM72B	-	NULL	ENSG00000188610		0.443	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM72B	HGNC	protein_coding	OTTHUMT00000098437.1		0	27	0	T			120839839	1			no_errors	ENST00000369390	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	C	C	120839839	T	C	120839839	2	2	38	1	0	0	0	0	0	0	0	1	5637	1509	53	4		4	FAM72B	1	120839839	Silent	SNP	T	TCGA-JY-A6FE-01A-11D-A33E-09	11520837	120839839	128410782	10	9153											
DCST1	149095	genome.wustl.edu	37	chr1	155023261	155023261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggacgacatgcggcagCggtgcccggtctgcacgccc	5	5	16	15	5	1	0	0	0	1	0	1	2	1	1	2	4	4	3	2	4	0	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:155023261C>T	ENST00000295542.1	+	17	2134	c.2038C>T	c.(2038-2040)Cgg>Tgg	p.R680W	ADAM15_ENST00000368413.1_5'Flank|ADAM15_ENST00000449910.2_5'Flank|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000531455.1_5'Flank|ADAM15_ENST00000368410.2_5'Flank|ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000360674.4_5'Flank|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000359280.4_5'Flank|ADAM15_ENST00000355956.2_5'Flank|DCST1_ENST00000423025.2_Missense_Mutation_p.R655W|ADAM15_ENST00000368412.3_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	680						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CATGCGGCAGCGGTGCCCGGT	0.677											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	29	28					1																	155023261		2202	4300	6502	SO:0001583	missense	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.2038C>T	1.37:g.155023261C>T	ENSP00000295542:p.Arg680Trp	1767	B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.R680W	ENST00000295542.1	37	c.2038	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.236432	0.58886	.	.	ENSG00000163357	ENST00000295542;ENST00000423025	T;T	0.22945	1.93;1.93	5.22	1.79	0.24919	Zinc finger, RING-type (2);	1.723590	0.02904	N	0.135730	T	0.09468	0.0233	L	0.46157	1.445	0.19300	N	0.999979	P;P	0.51653	0.947;0.947	B;B	0.40534	0.332;0.332	T	0.11012	-1.0605	10	0.38643	T	0.18	-5.8027	5.1983	0.15250	0.3007:0.5245:0.0:0.1748	.	655;680	E9PHV3;Q5T197	.;DCST1_HUMAN	W	680;655	ENSP00000295542:R680W;ENSP00000387369:R655W	ENSP00000295542:R680W	R	+	1	2	DCST1	153289885	0.011000	0.17503	0.832000	0.32986	0.977000	0.68977	0.553000	0.23391	0.540000	0.28808	0.655000	0.94253	CGG	DCST1	-	pfscan_Znf_RING	ENSG00000163357		0.677	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1		0	38	0	C	NM_152494		155023261	1			no_errors	ENST00000295542	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.002	T	T	155023261	C	T	155023261	3	4	38	1	0	0	0	0	1	0	0	0	4311	759	27	1	2100	1	DCST1	1	155023261	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	34183422	155023261	94227360	11	9154											
SMG5	23381	genome.wustl.edu	37	chr1	156231157	156231157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccagcagcaggcaacaGattcagcaacacagacaggc	15	4	9	13	0	2	2	2	0	0	2	2	2	2	2	1	2	5	4	1	2	2	2	rs374473521		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:156231157G>T	ENST00000361813.5	-	14	2218	c.2074C>A	c.(2074-2076)Ctg>Atg	p.L692M	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	692					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GCAGGCAACAGATTCAGCAAC	0.562																																																	0													100	93	95					1																	156231157		2203	4300	6503	SO:0001583	missense	0			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"EST1 telomerase component homolog B (S. cerevisiae)"	610962	"smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2074C>A	1.37:g.156231157G>T	ENSP00000355261:p.Leu692Met		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.L692M	ENST00000361813.5	37	c.2074	CCDS1137.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012118	0.75046	.	.	ENSG00000198952	ENST00000361813	T	0.34072	1.38	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000003	T	0.47619	0.1455	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.11842	-1.0571	10	0.28530	T	0.3	-20.1095	18.6787	0.91539	0.0:0.0:1.0:0.0	.	692	Q9UPR3	SMG5_HUMAN	M	692	ENSP00000355261:L692M	ENSP00000355261:L692M	L	-	1	2	SMG5	154497781	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	5.533000	0.67160	2.757000	0.94681	0.561000	0.74099	CTG	SMG5	-	NULL	ENSG00000198952		0.562	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1		0	50	0	G	NM_015327		156231157	-1			no_errors	ENST00000361813	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	156231157	G	T	156231157	3	4	38	1	0	0	0	0	1	0	0	0	14841	933	33	3	1012	3	SMG5	1	156231157	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	1207896	156231157	93019464	12	9155											
MEF2D	4209	genome.wustl.edu	37	chr1	156449488	156449488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatgatgtcaccagggaaGgggtgaccagggagccgctg	9	5	19	8	1	1	2	1	2	0	0	1	5	1	5	3	5	1	1	3	5	1	0	rs34630845		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:156449488G>T	ENST00000348159.4	-	5	977	c.497C>A	c.(496-498)cCt>cAt	p.P166H	MEF2D_ENST00000353795.3_Missense_Mutation_p.P120H|MEF2D_ENST00000340875.5_Missense_Mutation_p.P165H|MEF2D_ENST00000360595.3_Missense_Mutation_p.P166H|MEF2D_ENST00000464356.2_Missense_Mutation_p.P165H|MEF2D_ENST00000368240.2_Missense_Mutation_p.P166H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	166					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCAGGGAAGGGGTGACCAG	0.642																																																	0													33	32	33					1																	156449488		2077	4096	6173	SO:0001583	missense	0			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.497C>A	1.37:g.156449488G>T	ENSP00000271555:p.Pro166His		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.P166H	ENST00000348159.4	37	c.497	CCDS1143.1	1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750756	0.69533	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.60040	0.22;0.24;0.24;0.59;0.24;0.26	5.52	5.52	0.82312	.	0.227351	0.45867	D	0.000327	T	0.42539	0.1207	L	0.27053	0.805	0.38454	D	0.947046	D;P;B	0.56035	0.974;0.844;0.168	P;B;B	0.52856	0.711;0.396;0.045	T	0.35968	-0.9767	10	0.32370	T	0.25	-8.1457	11.8805	0.52574	0.0:0.0:0.7276:0.2724	.	171;166;166	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	H	166;165;166;120;166;165	ENSP00000271555:P166H;ENSP00000343159:P165H;ENSP00000357223:P166H;ENSP00000344705:P120H;ENSP00000353803:P166H;ENSP00000388505:P165H	ENSP00000343159:P165H	P	-	2	0	MEF2D	154716112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.963000	0.63694	2.605000	0.88082	0.655000	0.94253	CCT	MEF2D	-	NULL	ENSG00000116604		0.642	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2		0	61	0	G	NM_005920		156449488	-1			no_errors	ENST00000348159	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	T	T	156449488	G	T	156449488	3	4	38	1	0	0	0	0	1	0	0	0	9496	1000	35	3	1100	3	MEF2D	1	156449488	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	218331	156449488	92801133	13	9156											
COPA	1314	genome.wustl.edu	37	chr1	160278920	160278920	+	Frame_Shift_Del	DEL	G	G	-																															tctgggagtcagcatctttaGggatggtgtacaggtcatag																										TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:160278920delG	ENST00000241704.7	-	13	1419	c.1190delC	c.(1189-1191)cctfs	p.P397fs	COPA_ENST00000368069.3_Frame_Shift_Del_p.P397fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	397					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCATCTTTAGGGATGGTGTA	0.443																																																	0													220	192	201					1																	160278920		2203	4300	6503	SO:0001589	frameshift_variant	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1190delC	1.37:g.160278920delG	ENSP00000241704:p.Pro397fs		Q5T201|Q8IXZ9	Frame_Shift_Del	DEL	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P397fs	ENST00000241704.7	37	c.1190	CCDS1202.1	1																																																																																			COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.443	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1		0	88	0	G	NM_004371		160278920	-1	tier1		no_errors	ENST00000368069	ensembl	human	known	74_37	frame_shift_del	28.99	98	40	DEL	1.000	-	-	160278920	G	-	160278920	7	5	38	1	0	1	0	1	0	0	0	0	3734	1000	35	0	2595	0	COPA	1	160278920	Frame_Shift_Del	DEL	G	TCGA-JY-A6FE-01A-11D-A33E-09	3829432	160278920	88971701	14	9157											
FCRLB	127943	genome.wustl.edu	37	chr1	161695655	161695655	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgccagtgttcgagggtGagccgctagtcctgcgctgc	5	9	15	12	4	0	1	0	1	0	0	2	2	1	1	3	1	4	3	3	1	1	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:161695655G>T	ENST00000367948.2	+	6	567	c.352G>T	c.(352-354)Gag>Tag	p.E118*	FCRLB_ENST00000367944.3_Nonsense_Mutation_p.E111*|FCRLB_ENST00000367946.3_Nonsense_Mutation_p.E118*|FCRLB_ENST00000392158.1_Nonsense_Mutation_p.E118*|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.E111*|FCRLB_ENST00000336830.5_Nonsense_Mutation_p.E118*			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	118	Ig-like C2-type 2.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTTCGAGGGTGAGCCGCTAGT	0.602																																																	0													87	82	83					1																	161695655		2203	4300	6503	SO:0001587	stop_gained	0			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.352G>T	1.37:g.161695655G>T	ENSP00000356925:p.Glu118*		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Nonsense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.E118*	ENST00000367948.2	37	c.352	CCDS30927.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.503652	0.98325	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	.	.	.	4.51	4.51	0.55191	.	0.242590	0.28600	N	0.014771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.7124	0.57098	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;111;118;111;118	.	ENSP00000338598:E118X	E	+	1	0	FCRLB	159962279	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	4.659000	0.61504	2.038000	0.60285	0.455000	0.32223	GAG	FCRLB	-	smart_Ig_sub	ENSG00000162746		0.602	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRLB	HGNC	protein_coding	OTTHUMT00000083585.1		0	64	0	G	NM_152378		161695655	1			no_errors	ENST00000367948	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	161695655	G	T	161695655	4	4	38	1	0	0	0	0	0	1	0	0	5823	1291	45	3	366	3	FCRLB	1	161695655	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	1416735	161695655	87554966	15	9158											
HMCN1	83872	genome.wustl.edu	37	chr1	186114919	186114919	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagctggcatagttggagCcagtgctctgcctcctgtgg	6	10	15	10	0	1	0	0	0	1	0	2	2	2	2	3	4	4	4	3	4	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:186114919C>G	ENST00000271588.4	+	93	14701	c.14472C>G	c.(14470-14472)agC>agG	p.S4824R	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4824R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4824	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATAGTTGGAGCCAGTGCTCTG	0.502																																																	0													72	71	71					1																	186114919		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14472C>G	1.37:g.186114919C>G	ENSP00000271588:p.Ser4824Arg		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.S4824R	ENST00000271588.4	37	c.14472	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649117	0.67358	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.63744	-0.06;-0.06	5.44	3.53	0.40419	.	0.165343	0.64402	D	0.000002	T	0.75361	0.3839	M	0.92219	3.285	0.37395	D	0.91261	P	0.42203	0.773	P	0.48598	0.583	T	0.80434	-0.1384	10	0.56958	D	0.05	.	10.8008	0.46487	0.1309:0.8003:0.0:0.0688	.	4824	Q96RW7	HMCN1_HUMAN	R	4824	ENSP00000271588:S4824R;ENSP00000356462:S4824R	ENSP00000271588:S4824R	S	+	3	2	HMCN1	184381542	0.488000	0.25996	0.627000	0.29227	0.953000	0.61014	1.008000	0.29872	0.628000	0.30357	0.655000	0.94253	AGC	HMCN1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143341		0.502	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	82	0	C	NM_031935		186114919	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	34.55	72	38	SNP	0.931	G	G	186114919	C	G	186114919	3	3	38	1	0	0	0	0	1	0	0	0	7247	738	26	5	14842	5	HMCN1	1	186114919	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	24419264	186114919	63135702	16	9159											
ATP2B4	493	genome.wustl.edu	37	chr1	203708868	203708868	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgggactagggtgctcctGttggatggtgaggtcactcc	5	13	15	8	0	1	1	1	1	0	0	3	3	3	3	2	5	1	2	2	5	1	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:203708868G>T	ENST00000357681.5	+	21	4627	c.3504G>T	c.(3502-3504)ctG>ctT	p.L1168L	ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1204					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGTGCTCCTGTTGGATGGTG	0.517																																																	0													113	103	106					1																	203708868		2203	4300	6503	SO:0001819	synonymous_variant	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3504G>T	1.37:g.203708868G>T			B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.L1168	ENST00000357681.5	37	c.3504	CCDS1440.1	1																																																																																			ATP2B4	-	NULL	ENSG00000058668		0.517	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0	61	0	G	NM_001001396		203708868	1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.000	T	T	203708868	G	T	203708868	2	4	38	1	0	0	0	0	0	0	0	1	1143	1364	48	3		3	ATP2B4	1	203708868	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	17593949	203708868	45541753	17	9160											
NID1	4811	genome.wustl.edu	37	chr1	236212189	236212189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggtcgtgtccaagtccGccaggaaaggggcgactgca	9	6	14	12	4	0	0	0	0	0	0	4	2	2	1	3	4	1	1	3	4	2	0	rs202192927		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:236212189G>T	ENST00000264187.6	-	2	408	c.326C>A	c.(325-327)gCg>gAg	p.A109E	NID1_ENST00000366595.3_Missense_Mutation_p.A109E	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	109	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GTCCAAGTCCGCCAGGAAAGG	0.567																																																	0													67	74	71					1																	236212189		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.326C>A	1.37:g.236212189G>T	ENSP00000264187:p.Ala109Glu		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.A109E	ENST00000264187.6	37	c.326	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567338	0.65651	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.90385	-2.02;-2.66	4.81	3.89	0.44902	Nidogen, extracellular domain (2);	0.158566	0.56097	D	0.000030	D	0.94262	0.8157	M	0.81341	2.54	0.38718	D	0.95337	D;P	0.64830	0.994;0.922	P;P	0.61477	0.889;0.726	D	0.95466	0.8547	10	0.87932	D	0	.	13.4174	0.60976	0.0768:0.0:0.9232:0.0	.	109;109	P14543-2;P14543	.;NID1_HUMAN	E	109	ENSP00000264187:A109E;ENSP00000355554:A109E	ENSP00000264187:A109E	A	-	2	0	NID1	234278812	1.000000	0.71417	0.863000	0.33907	0.537000	0.34900	4.324000	0.59228	1.223000	0.43536	0.655000	0.94253	GCG	NID1	-	smart_Nidogen_extracell_dom	ENSG00000116962		0.567	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2		0	40	0	G	NM_002508		236212189	-1			no_errors	ENST00000264187	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.977	T	T	236212189	G	T	236212189	3	4	38	1	0	0	0	0	1	0	0	0	10453	1087	38	2	3493	2	NID1	1	236212189	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	32503321	236212189	13038432	18	9161											
OR2T2	401992	genome.wustl.edu	37	chr1	248616883	248616883	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctacaccaacgtgcTgccccactcctaccacactc	9	8	4	20	1	1	0	0	0	1	0	3	0	2	0	6	0	6	1	6	0	3	3	rs143551105	byFrequency	TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr1:248616883T>A	ENST00000342927.3	+	1	807	c.785T>A	c.(784-786)cTg>cAg	p.L262Q		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCAACGTGCTGCCCCACTCC	0.537																																																	0													21	19	20					1																	248616883		2179	4264	6443	SO:0001583	missense	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.785T>A	1.37:g.248616883T>A	ENSP00000343062:p.Leu262Gln		B2RNM1|B9EH01	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L262Q	ENST00000342927.3	37	c.785	CCDS31116.1	1	.	.	.	.	.	.	.	.	.	.	t	9.878	1.200859	0.22121	.	.	ENSG00000196240	ENST00000342927	T	0.37584	1.19	3.5	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	N	0.003307	T	0.28962	0.0719	N	0.04260	-0.245	0.19300	N	0.999975	D	0.89917	1.0	D	0.97110	1.0	T	0.06092	-1.0846	10	0.30078	T	0.28	.	5.2576	0.15555	0.1723:0.0:0.1769:0.6508	.	262	Q6IF00	OR2T2_HUMAN	Q	262	ENSP00000343062:L262Q	ENSP00000343062:L262Q	L	+	2	0	OR2T2	246683506	0.000000	0.05858	0.864000	0.33941	0.263000	0.26337	0.284000	0.18864	1.431000	0.47355	0.374000	0.22700	CTG	OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196240		0.537	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	-	0	26	0	T	NM_001004136		248616883	1	tier1	rs143551105	no_errors	ENST00000342927	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.339	A	A	248616883	T	A	248616883	3	1	38	1	0	0	0	0	1	0	0	0	11059	1580	55	5	787	5	OR2T2	1	248616883	Missense_Mutation	SNP	T	TCGA-JY-A6FE-01A-11D-A33E-09	12404694	248616883	633738	19	9162											
ATAD2B	54454	genome.wustl.edu	37	chr2	24033337	24033337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctccagagagcaataagCgtggcctgtaagaggttggc	10	9	14	8	1	1	2	0	0	1	2	2	3	1	2	2	3	2	4	2	3	3	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:24033337C>T	ENST00000238789.5	-	18	2646	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	768						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATAAGCGTGGCCTGTA	0.413																																																	0													73	74	74					2																	24033337		1980	4166	6146	SO:0001583	missense	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2303G>A	2.37:g.24033337C>T	ENSP00000238789:p.Arg768His		B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R768H	ENST00000238789.5	37	c.2303	CCDS46227.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.347660|4.347660	0.82022|0.82022	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789	.|D	.|0.94537	.|-3.45	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.853589	.|0.10478	.|N	.|0.670009	D|D	0.96090|0.96090	0.8726|0.8726	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.986;0.997	.|P;P	.|0.58331	.|0.691;0.837	D|D	0.94117|0.94117	0.7376|0.7376	5|10	.|0.46703	.|T	.|0.11	.|.	19.7937|19.7937	0.96469|0.96469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|768;768	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	T|H	49|768	.|ENSP00000238789:R768H	.|ENSP00000238789:R768H	A|R	-|-	1|2	0|0	ATAD2B|ATAD2B	23886841|23886841	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.325000|0.325000	0.28411|0.28411	7.818000|7.818000	0.86416|0.86416	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GCT|CGC	ATAD2B	-	superfamily_P-loop_NTPase	ENSG00000119778		0.413	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1		0	47	0	C	NM_017552		24033337	-1			no_errors	ENST00000238789	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	24033337	C	T	24033337	3	4	38	1	0	0	0	0	1	0	0	0	1073	768	27	1	2117	1	ATAD2B	2	24033337	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09		24033337	219166036	20	9163											
LTBP1	4052	genome.wustl.edu	37	chr2	33484653	33484653	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttttcttttctggttttAgtggcaactgcaccccctga	5	17	7	12	0	2	1	0	1	2	0	2	1	2	1	3	2	2	3	3	2	2	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:33484653A>C	ENST00000404816.2	+	13	2748		c.e13-1		LTBP1_ENST00000407925.1_Splice_Site|LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TTCTGGTTTTAGTGGCAACTG	0.299																																																	0													108	111	110					2																	33484653		2202	4300	6502	SO:0001630	splice_region_variant	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2396-1A>C	2.37:g.33484653A>C			A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Splice_Site	SNP	-	e13-2	ENST00000404816.2	37	c.2396-2	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123699	0.56613	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303;ENST00000468091	.	.	.	5.06	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5433	0.33406	0.9102:0.0:0.0898:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LTBP1	33338157	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.318000	0.65829	0.861000	0.35504	0.528000	0.53228	.	LTBP1	-	-	ENSG00000049323		0.299	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	37	0	A	NM_206943	Intron	33484653	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	splice_site	23.81	48	15	SNP	1.000	C	C	33484653	A	C	33484653	5	2	38	1	0	0	0	0	0	0	1	0	9108	434	15	4	2499	4	LTBP1	2	33484653	Splice_Site	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	9451316	33484653	209714720	21	9164											
EML4	27436	genome.wustl.edu	37	chr2	42513409	42513409	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtcttgtgtttttgcagCctctacaaccccacgtcaga	7	13	8	13	1	3	1	1	0	2	1	3	1	3	1	3	0	4	3	3	0	2	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:42513409C>A	ENST00000318522.5	+	10	1274	c.1012C>A	c.(1012-1014)Cct>Act	p.P338T	EML4_ENST00000402711.2_Splice_Site_p.P280T|EML4_ENST00000401738.3_Splice_Site_p.P349T	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	338					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.P338S(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTTTTTGCAGCCTCTACAACC	0.443			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	1	Substitution - Missense(1)	prostate(1)											152	128	136					2																	42513409		2203	4300	6503	SO:0001630	splice_region_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.1012-1C>A	2.37:g.42513409C>A			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P338T	ENST00000318522.5	37	c.1012	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748211	0.69533	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.41400	1.0;1.08;1.05	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.101787	0.64402	D	0.000002	T	0.54838	0.1883	L	0.44542	1.39	0.80722	D	1	B;D;D	0.69078	0.105;0.997;0.997	B;P;P	0.60682	0.065;0.804;0.878	T	0.55029	-0.8204	10	0.49607	T	0.09	-13.2362	18.5327	0.90999	0.0:1.0:0.0:0.0	.	280;349;338	B5MCW9;B5MBZ0;Q9HC35	.;.;EMAL4_HUMAN	T	338;280;349	ENSP00000320663:P338T;ENSP00000385059:P280T;ENSP00000384939:P349T	ENSP00000320663:P338T	P	+	1	0	EML4	42366913	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.815000	0.38981	2.438000	0.82558	0.650000	0.86243	CCT	EML4	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat	ENSG00000143924		0.443	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3		0	29	0	C	NM_019063	Missense_Mutation	42513409	1			no_errors	ENST00000318522	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	42513409	C	A	42513409	5	1	38	1	0	0	0	0	0	0	1	0	5115	753	26	3	1050	3	EML4	2	42513409	Splice_Site	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	9028756	42513409	200685964	22	9165											
C2orf78	388960	genome.wustl.edu	37	chr2	74043283	74043283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcactcgggaaaaagatcGatatgaaaactggattctct	15	10	9	7	2	1	2	0	1	1	1	4	5	1	4	0	2	2	1	0	2	5	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:74043283G>T	ENST00000409561.1	+	3	2054	c.1933G>T	c.(1933-1935)Gat>Tat	p.D645Y		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	645								p.D615N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAAAAAGATCGATATGAAAAC	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											55	56	55					2																	74043283		1872	4101	5973	SO:0001583	missense	0			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1933G>T	2.37:g.74043283G>T	ENSP00000387124:p.Asp645Tyr			Missense_Mutation	SNP	NULL	p.D645Y	ENST00000409561.1	37	c.1933	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	G	9.207	1.029926	0.19512	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	T	0.50813	0.73	4.9	2.96	0.34315	.	0.602207	0.14612	N	0.308955	T	0.53465	0.1798	M	0.65975	2.015	0.09310	N	1	D	0.53312	0.959	P	0.52856	0.711	T	0.45071	-0.9286	10	0.72032	D	0.01	-5.4529	6.307	0.21145	0.1011:0.187:0.7119:0.0	.	645	A6NCI8	CB078_HUMAN	Y	645;615	ENSP00000387124:D645Y	ENSP00000340692:D615Y	D	+	1	0	C2orf78	73896791	0.297000	0.24408	0.014000	0.15608	0.000000	0.00434	2.360000	0.44151	1.209000	0.43321	-0.251000	0.11542	GAT	C2orf78	-	NULL	ENSG00000187833		0.507	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1		0	23	0	G	NM_001080474		74043283	1			no_errors	ENST00000409561	ensembl	human	novel	74_37	missense	8.33	22	2	SNP	0.004	T	T	74043283	G	T	74043283	3	4	38	1	0	0	0	0	1	0	0	0	2202	1058	37	2	1943	2	C2orf78	2	74043283	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	31529874	74043283	169156090	23	9166											
LONRF2	164832	genome.wustl.edu	37	chr2	100900818	100900818	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactattcatcttacgcgtgAtgatgactaatatccgtcgg	10	13	9	9	4	2	3	1	3	1	0	4	4	3	3	1	1	1	0	1	1	4	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:100900818A>T	ENST00000393437.3	-	12	2846	c.2207T>A	c.(2206-2208)aTc>aAc	p.I736N	LONRF2_ENST00000409647.1_Missense_Mutation_p.I493N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	736	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CTTACGCGTGATGATGACTAA	0.532																																																	0													29	25	27					2																	100900818		2202	4300	6502	SO:0001583	missense	0			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"RING-type (C3HC4) zinc fingers"	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.2207T>A	2.37:g.100900818A>T	ENSP00000377086:p.Ile736Asn		B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.I736N	ENST00000393437.3	37	c.2207	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017920	0.75275	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.85955	-1.88;-2.05	5.24	4.05	0.47172	.	0.350136	0.28718	N	0.014364	D	0.85239	0.5651	L	0.46157	1.445	0.35716	D	0.816809	D	0.57899	0.981	P	0.51999	0.687	D	0.87983	0.2744	10	0.59425	D	0.04	-3.529	12.0834	0.53684	0.856:0.144:0.0:0.0	.	736	Q1L5Z9	LONF2_HUMAN	N	736;493	ENSP00000377086:I736N;ENSP00000386823:I493N	ENSP00000377086:I736N	I	-	2	0	LONRF2	100267250	1.000000	0.71417	0.005000	0.12908	0.838000	0.47535	6.750000	0.74888	0.801000	0.34066	0.533000	0.62120	ATC	LONRF2	-	NULL	ENSG00000170500		0.532	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2		0	36	0	A	NM_198461		100900818	-1			no_errors	ENST00000393437	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.998	T	T	100900818	A	T	100900818	3	4	38	1	0	0	0	0	1	0	0	0	8930	333	12	5	61	5	LONRF2	2	100900818	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	26857535	100900818	142298555	24	9167											
MFSD9	84804	genome.wustl.edu	37	chr2	103353149	103353149	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggaagcggcgggctcCgacggcaccggagtcggcag	8	2	19	12	6	0	0	0	0	0	0	2	4	1	2	2	6	2	4	2	6	1	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:103353149C>A	ENST00000258436.5	-	1	164	c.121G>T	c.(121-123)Gga>Tga	p.G41*	TMEM182_ENST00000409528.1_5'Flank|TMEM182_ENST00000409173.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	41					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGGCGGGCTCCGACGGCACCG	0.662																																																	0													33	40	37					2																	103353149		2202	4300	6502	SO:0001587	stop_gained	0				CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.121G>T	2.37:g.103353149C>A	ENSP00000258436:p.Gly41*		Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Nonsense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.G41*	ENST00000258436.5	37	c.121	CCDS2063.1	2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691258	0.30052	.	.	ENSG00000135953	ENST00000258436	.	.	.	4.35	-4.49	0.03504	.	1.653830	0.03793	N	0.263190	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	5.2248	9.5725	0.39436	0.0962:0.6664:0.1283:0.1091	.	.	.	.	X	41	.	ENSP00000258436:G41X	G	-	1	0	MFSD9	102719581	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.050000	0.01404	-1.219000	0.02597	-0.225000	0.12378	GGA	MFSD9	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000135953		0.662	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD9	HGNC	protein_coding	OTTHUMT00000253295.2	-	0	68	0	C	NM_032718		103353149	-1	tier1	-	no_errors	ENST00000258436	ensembl	human	known	74_37	nonsense	16.30	77	15	SNP	0.000	A	A	103353149	C	A	103353149	4	1	38	1	0	0	0	0	0	1	0	0	9577	661	23	2	1327	2	MFSD9	2	103353149	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	2452331	103353149	139846224	25	9168											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107423380	107423380	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatacacgtgcacctctctGcacatggacatcattatgag	11	11	7	12	1	3	1	2	1	1	0	4	2	3	2	1	1	3	2	1	1	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:107423380G>T	ENST00000409382.3	-	6	1954	c.1344C>A	c.(1342-1344)tgC>tgA	p.C448*	ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.C448*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	448					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCACCTCTCTGCACATGGACA	0.512																																																	0													51	47	48					2																	107423380		2203	4300	6503	SO:0001587	stop_gained	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1344C>A	2.37:g.107423380G>T	ENSP00000386942:p.Cys448*		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Nonsense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.C448*	ENST00000409382.3	37	c.1344	CCDS2073.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.982201|9.982201	0.99310|0.99310	.|.	.|.	ENSG00000144057|ENSG00000144057	ENST00000361686;ENST00000409382|ENST00000361803	.|.	.|.	.|.	5.8|5.8	2.01|2.01	0.26516|0.26516	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.58148	.|0.2102	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49744	.|-0.8907	.|4	0.02654|.	T|.	1|.	-45.3596|-45.3596	9.3881|9.3881	0.38356|0.38356	0.3734:0.0:0.6266:0.0|0.3734:0.0:0.6266:0.0	.|.	.|.	.|.	.|.	X|K	448|14	.|.	ENSP00000355273:C448X|.	C|Q	-|-	3|1	2|0	ST6GAL2|ST6GAL2	106789812|106789812	0.835000|0.835000	0.29415|0.29415	0.867000|0.867000	0.34043|0.34043	0.985000|0.985000	0.73830|0.73830	1.173000|1.173000	0.31920|0.31920	0.089000|0.089000	0.17243|0.17243	0.655000|0.655000	0.94253|0.94253	TGC|CAG	ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.512	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0	22	0	G	NM_032528		107423380	-1	tier1	-	no_errors	ENST00000361686	ensembl	human	known	74_37	nonsense	15.38	22	4	SNP	0.611	T	T	107423380	G	T	107423380	4	4	38	1	0	0	0	0	0	1	0	0	15269	1311	46	3	249	3	ST6GAL2	2	107423380	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	4070231	107423380	135775993	26	9169											
ACVR2A	92	genome.wustl.edu	37	chr2	148657054	148657054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgtagaaaaaaaagacagCcctgaagtatatttttgttg	15	13	9	4	0	0	3	0	1	0	2	0	3	0	3	1	0	1	3	1	0	8	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:148657054C>T	ENST00000241416.7	+	3	927	c.291C>T	c.(289-291)agC>agT	p.S97S	ACVR2A_ENST00000404590.1_Silent_p.S97S|ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	97					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAAAAGACAGCCCTGAAGTAT	0.318																																																	0													101	108	105					2																	148657054		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.291C>T	2.37:g.148657054C>T			B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.S97	ENST00000241416.7	37	c.291	CCDS33301.1	2																																																																																			ACVR2A	-	pfam_Activin_rcpt,prints_TGFB_receptor	ENSG00000121989		0.318	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	-	0	77	0	C	NM_001616		148657054	1	tier1	-	no_errors	ENST00000241416	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	148657054	C	T	148657054	2	4	38	1	0	0	0	0	0	0	0	1	223	738	26	3		3	ACVR2A	2	148657054	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	41233674	148657054	94542319	27	9170											
GALNT5	11227	genome.wustl.edu	37	chr2	158115477	158115477	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggaagcaatctattaatGagacacctttgggaagtttg	14	12	10	5	0	1	1	0	1	1	1	1	4	1	3	1	2	1	2	1	2	6	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:158115477G>T	ENST00000259056.4	+	1	1368	c.883G>T	c.(883-885)Gag>Tag	p.E295*		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	295					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATCTATTAATGAGACACCTTT	0.388																																																	0													69	73	72					2																	158115477		2203	4300	6503	SO:0001587	stop_gained	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4127	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 5"	615129	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.883G>T	2.37:g.158115477G>T	ENSP00000259056:p.Glu295*		A5PKZ1|Q9UGK7|Q9UHL6	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E295*	ENST00000259056.4	37	c.883	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	G	42	9.725077	0.99248	.	.	ENSG00000136542	ENST00000259056	.	.	.	5.52	3.72	0.42706	.	1.743380	0.03824	N	0.268052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.1054	0.48199	0.1531:0.0:0.8469:0.0	.	.	.	.	X	295	.	ENSP00000259056:E295X	E	+	1	0	GALNT5	157823723	0.302000	0.24454	0.831000	0.32960	0.701000	0.40568	1.287000	0.33284	0.805000	0.34159	0.561000	0.74099	GAG	GALNT5	-	NULL	ENSG00000136542		0.388	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	-	0	37	0	G	NM_014568		158115477	1	tier1	-	no_errors	ENST00000259056	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	0.943	T	T	158115477	G	T	158115477	4	4	38	1	0	0	0	0	0	1	0	0	6241	1291	45	3	885	3	GALNT5	2	158115477	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	9458423	158115477	85083896	28	9171											
KCNH7	90134	genome.wustl.edu	37	chr2	163292018	163292018	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcattagaacagcagcGccatattctgaatatcgatc	15	9	8	9	2	1	3	0	1	1	2	3	4	1	3	1	0	4	2	1	0	6	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:163292018G>T	ENST00000332142.5	-	8	1743	c.1644C>A	c.(1642-1644)ggC>ggA	p.G548G	KCNH7_ENST00000328032.4_Silent_p.G541G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	548					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAACAGCAGCGCCATATTCTG	0.463																																					GBM(196;1492 2208 17507 24132 45496)												0													82	78	80					2																	163292018		2203	4300	6503	SO:0001819	synonymous_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1644C>A	2.37:g.163292018G>T			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.G548	ENST00000332142.5	37	c.1644	CCDS2219.1	2																																																																																			KCNH7	-	pfam_Ion_trans_dom	ENSG00000184611		0.463	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1		0	16	0	G	NM_033272		163292018	-1			no_errors	ENST00000332142	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.215	T	T	163292018	G	T	163292018	2	4	38	1	0	0	0	0	0	0	0	1	8064	1074	38	2		2	KCNH7	2	163292018	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	5176541	163292018	79907355	29	9172											
LASS6	253782	genome.wustl.edu	37	chr2	169404190	169404190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaatgccattctggaaaaGgtcttcactgcaattacaaa	14	10	6	11	0	3	0	1	0	2	0	3	1	3	1	2	2	3	1	2	2	6	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:169404190G>T	ENST00000305747.6	+	2	842	c.255G>T	c.(253-255)aaG>aaT	p.K85N	CERS6_ENST00000392687.4_Missense_Mutation_p.K85N	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	85					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TTCTGGAAAAGGTCTTCACTG	0.453																																																	0													103	84	90					2																	169404190		2203	4300	6503	SO:0001583	missense	0			BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"Homeoboxes / CERS class"	23826	protein-coding gene	gene with protein product		615336	"LAG1 longevity assurance homolog 6 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 6"	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.255G>T	2.37:g.169404190G>T	ENSP00000306579:p.Lys85Asn		Q32M63|Q8N617	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.K85N	ENST00000305747.6	37	c.255	CCDS2228.1	2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287869	0.59976	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.96491	-4.03;-4.03	5.78	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97087	0.9048	M	0.64630	1.985	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.992;0.995	D	0.96218	0.9158	10	0.38643	T	0.18	-23.3987	10.6484	0.45634	0.1546:0.0:0.8454:0.0	.	85;85	Q32M63;Q6ZMG9	.;CERS6_HUMAN	N	85	ENSP00000306579:K85N;ENSP00000376453:K85N	ENSP00000306579:K85N	K	+	3	2	CERS6	169112436	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.584000	0.53936	1.451000	0.47736	0.585000	0.79938	AAG	CERS6	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_Homeobox_dom	ENSG00000172292		0.453	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS6	HGNC	protein_coding	OTTHUMT00000255235.2		0	71	0	G	NM_203463		169404190	1			no_errors	ENST00000392687	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	169404190	G	T	169404190	3	4	38	1	0	0	0	0	1	0	0	0	8671	991	35	3	261	3	LASS6	2	169404190	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	6112172	169404190	73795183	30	9173											
LRP2	4036	genome.wustl.edu	37	chr2	170070332	170070332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggggtgggaaagctGgtgtaccaggatcattcgat	9	9	14	9	1	1	0	1	0	0	0	3	3	2	2	3	5	2	2	3	5	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:170070332G>T	ENST00000263816.3	-	36	6160	c.5875C>A	c.(5875-5877)Cag>Aag	p.Q1959K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1959					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Q1959K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TGGGAAAGCTGGTGTACCAGG	0.403																																																	1	Substitution - Missense(1)	ovary(1)											84	83	83					2																	170070332		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5875C>A	2.37:g.170070332G>T	ENSP00000263816:p.Gln1959Lys		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.Q1959K	ENST00000263816.3	37	c.5875	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	2.054	-0.416959	0.04766	.	.	ENSG00000081479	ENST00000263816	D	0.90900	-2.75	5.96	2.21	0.28008	Six-bladed beta-propeller, TolB-like (1);	0.320644	0.38778	N	0.001567	T	0.76140	0.3946	N	0.11201	0.11	0.37474	D	0.915714	B	0.02656	0.0	B	0.01281	0.0	T	0.63937	-0.6524	10	0.06625	T	0.88	.	9.1396	0.36894	0.1196:0.2266:0.6538:0.0	.	1959	P98164	LRP2_HUMAN	K	1959	ENSP00000263816:Q1959K	ENSP00000263816:Q1959K	Q	-	1	0	LRP2	169778578	0.997000	0.39634	0.301000	0.25044	0.612000	0.37316	2.644000	0.46613	0.135000	0.18707	-0.156000	0.13503	CAG	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	35	0	G	NM_004525		170070332	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.343	T	T	170070332	G	T	170070332	3	4	38	1	0	0	0	0	1	0	0	0	8991	1357	47	3	8268	3	LRP2	2	170070332	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	666142	170070332	73129041	31	9174											
SP100	6672	genome.wustl.edu	37	chr2	231367806	231367806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaacactagacctttGaaaagaagaagaaaaagagg	22	4	9	6	0	0	6	0	1	0	5	0	6	0	6	2	1	2	0	2	1	9	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:231367806G>T	ENST00000264052.5	+	20	2101	c.1746G>T	c.(1744-1746)ttG>ttT	p.L582F	SP100_ENST00000340126.4_Missense_Mutation_p.L582F|SP100_ENST00000409112.1_Missense_Mutation_p.L582F	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	582					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L582F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTAGACCTTTGAAAAGAAGAA	0.284																																																	2	Substitution - Missense(2)	breast(2)											76	79	78					2																	231367806		2203	4299	6502	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1746G>T	2.37:g.231367806G>T	ENSP00000264052:p.Leu582Phe		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.L582F	ENST00000264052.5	37	c.1746	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581148	0.46006	.	.	ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648	T;T;T	0.80033	2.31;-1.33;0.25	4.32	0.437	0.16555	.	0.439657	0.14474	N	0.317387	T	0.77585	0.4152	L	0.27053	0.805	0.18873	N	0.999985	D;D;D	0.69078	0.995;0.997;0.991	D;P;P	0.66497	0.944;0.881;0.881	T	0.64575	-0.6375	10	0.49607	T	0.09	.	3.9968	0.09561	0.3068:0.1862:0.5069:0.0	.	582;582;582	P23497-4;P23497;E7EUA7	.;SP100_HUMAN;.	F	582;582;582;65	ENSP00000264052:L582F;ENSP00000386427:L582F;ENSP00000343023:L582F	ENSP00000264052:L582F	L	+	3	2	SP100	231076050	0.018000	0.18449	0.002000	0.10522	0.682000	0.39822	0.292000	0.19011	0.066000	0.16515	0.563000	0.77884	TTG	SP100	-	NULL	ENSG00000067066		0.284	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2		0	35	0	G	NM_003113		231367806	1			no_errors	ENST00000340126	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.002	T	T	231367806	G	T	231367806	3	4	38	1	0	0	0	0	1	0	0	0	15005	1281	45	3	1824	3	SP100	2	231367806	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	61297474	231367806	11831567	32	9175											
RAB17	64284	genome.wustl.edu	37	chr2	238485970	238485970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaccaggacttctcctGggtgcagctcctcctccagg	6	9	10	16	0	2	0	1	0	1	0	6	1	5	1	5	3	2	3	5	3	0	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr2:238485970G>T	ENST00000264601.3	-	4	994	c.365C>A	c.(364-366)cCa>cAa	p.P122Q	RAB17_ENST00000409822.1_5'UTR|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000409576.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	122					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GACTTCTCCTGGGTGCAGCTC	0.537																																					Colon(56;987 1029 6466 13943 27336)												0													75	67	69					2																	238485970		2203	4300	6503	SO:0001583	missense	0			AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.365C>A	2.37:g.238485970G>T	ENSP00000264601:p.Pro122Gln		Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P122Q	ENST00000264601.3	37	c.365	CCDS2520.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.029|8.029	0.761290|0.761290	0.15914|0.15914	.|.	.|.	ENSG00000124839|ENSG00000124839	ENST00000264601;ENST00000411462|ENST00000430445	T;T|.	0.65364|.	-0.15;0.26|.	4.61|4.61	1.62|1.62	0.23740|0.23740	Small GTP-binding protein domain (1);|.	0.421388|.	0.20021|.	N|.	0.100913|.	T|T	0.32971|0.32971	0.0847|0.0847	L|L	0.41415|0.41415	1.275|1.275	0.31223|0.31223	N|N	0.697287|0.697287	P|.	0.40266|.	0.71|.	B|.	0.39068|.	0.289|.	T|T	0.35351|0.35351	-0.9792|-0.9792	10|5	0.72032|.	D|.	0.01|.	0.3428|0.3428	3.5282|3.5282	0.07766|0.07766	0.2146:0.0:0.5875:0.1979|0.2146:0.0:0.5875:0.1979	.|.	122|.	Q9H0T7|.	RAB17_HUMAN|.	Q|K	122;100|82	ENSP00000264601:P122Q;ENSP00000400240:P100Q|.	ENSP00000264601:P122Q|.	P|Q	-|-	2|1	0|0	RAB17|RAB17	238150709|238150709	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	3.575000|3.575000	0.53870|0.53870	0.391000|0.391000	0.25143|0.25143	-0.346000|-0.346000	0.07831|0.07831	CCA|CAG	RAB17	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000124839		0.537	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB17	HGNC	protein_coding	OTTHUMT00000257084.2	-	0	22	0	G			238485970	-1	tier1	-	no_errors	ENST00000264601	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.065	T	T	238485970	G	T	238485970	3	4	38	1	0	0	0	0	1	0	0	0	12947	1348	47	3	285	3	RAB17	2	238485970	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	7118164	238485970	4713403	33	9176											
CLASP2	23122	genome.wustl.edu	37	chr3	33580287	33580287	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaatacttactgaatcGccatcatcttttttagaatc	14	16	3	8	1	2	2	1	1	1	1	4	2	2	2	1	0	2	0	1	0	7	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:33580287G>T	ENST00000468888.2	-	33	3622	c.3576C>A	c.(3574-3576)ggC>ggA	p.G1192G	CLASP2_ENST00000399362.4_Silent_p.G1191G|CLASP2_ENST00000480013.1_Silent_p.G971G|CLASP2_ENST00000359576.5_Silent_p.G1183G|CLASP2_ENST00000307312.7_Silent_p.G673G|CLASP2_ENST00000461133.3_Silent_p.G951G|CLASP2_ENST00000539981.1_Silent_p.G961G			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	972	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTACTGAATCGCCATCATCTT	0.313																																																	0													65	58	60					3																	33580287		1813	4077	5890	SO:0001819	synonymous_variant	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3576C>A	3.37:g.33580287G>T			Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.G1191	ENST00000468888.2	37	c.3573		3																																																																																			CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.313	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4		0	37	0	G	NM_001207044		33580287	-1			no_errors	ENST00000399362	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.634	T	T	33580287	G	T	33580287	2	4	38	1	0	0	0	0	0	0	0	1	3462	1074	38	2		2	CLASP2	3	33580287	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		33580287	164442143	34	9177											
EXOSC7	23016	genome.wustl.edu	37	chr3	45046822	45046822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggaggatgaagaggggtcGaaggacattgaattgtcaga	13	9	16	3	1	1	4	1	2	0	2	2	8	1	7	0	5	0	0	0	5	3	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:45046822G>A	ENST00000265564.7	+	6	579	c.531G>A	c.(529-531)tcG>tcA	p.S177S	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	177					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		AAGAGGGGTCGAAGGACATTG	0.423																																																	0													259	226	237					3																	45046822		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.531G>A	3.37:g.45046822G>A			Q96E72	Silent	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.S177	ENST00000265564.7	37	c.531	CCDS2725.1	3																																																																																			EXOSC7	-	NULL	ENSG00000075914		0.423	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC7	HGNC	protein_coding	OTTHUMT00000256754.2	-	0	48	0	G	NM_015004		45046822	1	tier1	-	no_errors	ENST00000265564	ensembl	human	known	74_37	silent	61.29	24	38	SNP	0.004	A	A	45046822	G	A	45046822	2	1	38	1	0	0	0	0	0	0	0	1	5335	1045	37	1		1	EXOSC7	3	45046822	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	11466535	45046822	152975608	35	9178											
DUSP7	1849	genome.wustl.edu	37	chr3	52090157	52090157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagctcgtgcggccggcagtCgagcagcagcaaggacgcgc	8	3	17	13	6	0	0	0	0	0	0	2	3	0	1	1	3	5	5	1	3	1	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:52090157C>G	ENST00000495880.1	-	1	409	c.226G>C	c.(226-228)Gac>Cac	p.D76H	DUSP7_ENST00000296483.6_Missense_Mutation_p.D25H			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	76	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCCGGCAGTCGAGCAGCAGC	0.726																																																	0													12	13	13					3																	52090157		2189	4290	6479	SO:0001583	missense	0			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.226G>C	3.37:g.52090157C>G	ENSP00000417183:p.Asp76His		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.D25H	ENST00000495880.1	37	c.73	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700142	0.88924	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	D;D;D	0.86297	-2.1;-2.1;-2.1	4.44	3.57	0.40892	Rhodanese-like (5);	0.117922	0.56097	D	0.000035	D	0.91446	0.7300	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91433	0.5167	10	0.87932	D	0	.	12.0383	0.53438	0.0:0.9143:0.0:0.0857	.	25;76	Q16829-2;Q16829	.;DUS7_HUMAN	H	76;25;9	ENSP00000417183:D76H;ENSP00000296483:D25H;ENSP00000418566:D9H	ENSP00000296483:D25H	D	-	1	0	DUSP7	52065197	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.654000	0.67974	0.879000	0.35944	0.655000	0.94253	GAC	DUSP7	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom	ENSG00000164086		0.726	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	-	0	10	0	C	NM_001947		52090157	-1	tier1	-	no_errors	ENST00000296483	ensembl	human	known	74_37	missense	100.00	0	5	SNP	1.000	G	G	52090157	C	G	52090157	3	3	38	1	0	0	0	0	1	0	0	0	4844	884	31	5	1045	5	DUSP7	3	52090157	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	7043335	52090157	145932273	36	9179											
TWF2	11344	genome.wustl.edu	37	chr3	52265239	52265239	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtacccagcaaaagaGaggtcatcctgcaggggtgg	10	8	14	9	0	2	1	1	0	1	1	3	2	3	1	2	5	3	3	2	5	3	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:52265239G>T	ENST00000305533.5	-	5	630	c.387C>A	c.(385-387)ctC>ctA	p.L129L	TLR9_ENST00000494383.1_5'Flank|TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Silent_p.L129L	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	129	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGCAAAAGAGAGGTCATCCT	0.617																																																	0													75	76	75					3																	52265239		2203	4300	6503	SO:0001819	synonymous_variant	0			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"protein tyrosine kinase 9-like (A6-related protein)", "PTK9L protein tyrosine kinase 9-like (A6-related protein)", "twinfilin, actin-binding protein, homolog 2 (Drosophila)"	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.387C>A	3.37:g.52265239G>T			Q9Y3F5	Silent	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.L129	ENST00000305533.5	37	c.387	CCDS2849.1	3																																																																																			TWF2	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	ENSG00000247596		0.617	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWF2	HGNC	protein_coding	OTTHUMT00000350199.2	-	0	79	0	G			52265239	-1	tier1	-	no_errors	ENST00000305533	ensembl	human	known	74_37	silent	5.75	82	5	SNP	1.000	T	T	52265239	G	T	52265239	2	4	38	1	0	0	0	0	0	0	0	1	16831	929	33	3		3	TWF2	3	52265239	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	175082	52265239	145757191	37	9180											
STAB1	23166	genome.wustl.edu	37	chr3	52554457	52554457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgctcgcattgtgcaGcggcacttgccctttgaggg	6	11	14	10	2	0	2	0	2	0	0	1	3	0	2	1	2	4	4	1	2	0	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:52554457G>T	ENST00000321725.6	+	53	5617	c.5541G>T	c.(5539-5541)caG>caT	p.Q1847H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1847	FAS1 6. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCATTGTGCAGCGGCACTTGC	0.612																																																	0													72	67	68					3																	52554457		2203	4300	6503	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5541G>T	3.37:g.52554457G>T	ENSP00000312946:p.Gln1847His		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.Q1847H	ENST00000321725.6	37	c.5541	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246413	0.80024	.	.	ENSG00000010327	ENST00000321725	D	0.90900	-2.75	6.07	4.27	0.50696	FAS1 domain (5);	0.239573	0.43747	D	0.000534	D	0.93890	0.8045	M	0.73217	2.22	0.40939	D	0.984458	D	0.76494	0.999	D	0.74023	0.982	D	0.93660	0.6981	10	0.66056	D	0.02	.	10.7743	0.46340	0.1354:0.0:0.8646:0.0	.	1847	Q9NY15	STAB1_HUMAN	H	1847	ENSP00000312946:Q1847H	ENSP00000312946:Q1847H	Q	+	3	2	STAB1	52529497	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.239000	0.43079	0.880000	0.35969	0.655000	0.94253	CAG	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000010327		0.612	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2		0	25	0	G	NM_015136		52554457	1			no_errors	ENST00000321725	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T	T	52554457	G	T	52554457	3	4	38	1	0	0	0	0	1	0	0	0	15284	962	34	3	5751	3	STAB1	3	52554457	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	289218	52554457	145467973	38	9181											
COL6A5	256076	genome.wustl.edu	37	chr3	130110482	130110482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaaaggccaaccaaaaGgaacttgagggtatggcagg	15	5	15	6	0	0	1	0	1	0	0	0	3	0	3	2	6	2	3	2	6	7	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:130110482G>T	ENST00000432398.2	+	7	3371	c.2877G>T	c.(2875-2877)aaG>aaT	p.K959N	COL6A5_ENST00000265379.6_Missense_Mutation_p.K959N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	959	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAACCAAAAGGAACTTGAGG	0.403																																																	0													72	55	60					3																	130110482		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2877G>T	3.37:g.130110482G>T	ENSP00000390895:p.Lys959Asn		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K959N	ENST00000432398.2	37	c.2877		3	.	.	.	.	.	.	.	.	.	.	G	8.911	0.958787	0.18507	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.83506	-1.73;-1.73	5.71	-11.4	0.00090	.	.	.	.	.	T	0.58395	0.2119	N	0.05383	-0.06	0.09310	N	1	B	0.18310	0.027	B	0.20384	0.029	T	0.47169	-0.9138	9	0.21014	T	0.42	.	8.735	0.34523	0.3604:0.0:0.0784:0.5612	.	959	A8TX70-2	.	N	959	ENSP00000390895:K959N;ENSP00000265379:K959N	ENSP00000265379:K959N	K	+	3	2	COL6A5	131593172	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-6.023000	0.00085	-2.619000	0.00441	0.650000	0.86243	AAG	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0	18	0	G	NM_153264		130110482	1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.000	T	T	130110482	G	T	130110482	3	4	38	1	0	0	0	0	1	0	0	0	3709	991	35	3	2899	3	COL6A5	3	130110482	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	77556025	130110482	67911948	39	9182											
PRR23A	729627	genome.wustl.edu	37	chr3	138724446	138724446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctggggacaggctccagaAggcggaattccgggtcgaag	10	5	17	9	3	0	1	0	0	0	1	3	4	2	3	2	6	1	2	2	6	3	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:138724446A>G	ENST00000383163.2	-	1	664	c.665T>C	c.(664-666)cTt>cCt	p.L222P	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	222	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						AGGCTCCAGAAGGCGGAATTC	0.682																																																	0													34	40	38					3																	138724446		692	1591	2283	SO:0001583	missense	0				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.665T>C	3.37:g.138724446A>G	ENSP00000372649:p.Leu222Pro			Missense_Mutation	SNP	pfam_UPF0572	p.L222P	ENST00000383163.2	37	c.665	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450505	0.26074	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	2.02	0.26589	.	0.660827	0.12704	N	0.446062	T	0.52725	0.1752	L	0.59436	1.845	0.09310	N	0.999999	D	0.63046	0.992	D	0.64144	0.922	T	0.35176	-0.9799	9	0.87932	D	0	.	5.6575	0.17650	0.7587:0.0:0.0:0.2413	.	222	A6NEV1	PR23A_HUMAN	P	222	.	ENSP00000372649:L222P	L	-	2	0	PRR23A	140207136	0.001000	0.12720	0.001000	0.08648	0.146000	0.21551	0.957000	0.29215	0.603000	0.29913	0.482000	0.46254	CTT	PRR23A	-	pfam_UPF0572	ENSG00000206260		0.682	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	HGNC	protein_coding	OTTHUMT00000361503.1	-	0	124	0	A	NM_001134659		138724446	-1	tier1	-	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	23.19	105	32	SNP	0.001	G	G	138724446	A	G	138724446	3	3	38	1	0	0	0	0	1	0	0	0	12636	72	3	4	139	4	PRR23A	3	138724446	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	8613964	138724446	59297984	40	9183											
PLSCR4	57088	genome.wustl.edu	37	chr3	145912920	145912920	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaggcttacaatgaggaaGcaagctccaaaaatcatggc	17	6	10	8	0	1	2	1	1	0	1	2	3	2	3	1	3	3	3	1	3	7	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr3:145912920G>T	ENST00000354952.2	-	8	1176	c.936C>A	c.(934-936)tgC>tgA	p.C312*	PLSCR4_ENST00000383083.2_Nonsense_Mutation_p.C222*|PLSCR4_ENST00000446574.2_Nonsense_Mutation_p.C312*|PLSCR4_ENST00000433593.2_Nonsense_Mutation_p.C207*|PLSCR4_ENST00000493382.1_Nonsense_Mutation_p.C312*	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	312					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAATGAGGAAGCAAGCTCCAA	0.398																																																	0													126	108	114					3																	145912920		2203	4300	6503	SO:0001587	stop_gained	0			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.936C>A	3.37:g.145912920G>T	ENSP00000347038:p.Cys312*		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Nonsense_Mutation	SNP	pfam_Scramblase	p.C312*	ENST00000354952.2	37	c.936	CCDS3133.1	3	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221993	0.58560	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	.	.	.	4.62	2.81	0.32909	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.58	0.27959	0.2715:0.0:0.7285:0.0	.	.	.	.	X	312;222;207;312;312	.	ENSP00000347038:C312X	C	-	3	2	PLSCR4	147395610	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	1.544000	0.36158	0.664000	0.31047	0.491000	0.48974	TGC	PLSCR4	-	pfam_Scramblase	ENSG00000114698		0.398	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLSCR4	HGNC	protein_coding	OTTHUMT00000355172.1	-	0	32	0	G	NM_020353		145912920	-1	tier1	-	no_errors	ENST00000354952	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	T	T	145912920	G	T	145912920	4	4	38	1	0	0	0	0	0	1	0	0	12151	963	34	3	61	3	PLSCR4	3	145912920	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	7188474	145912920	52109510	41	9184											
RFC1	5981	genome.wustl.edu	37	chr4	39318600	39318600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtagcttcgataagcttGataattagtgcgtttctttt	10	18	8	5	2	1	1	0	1	1	0	2	2	1	1	0	0	3	4	0	0	5	10			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:39318600G>T	ENST00000381897.1	-	10	1271	c.1138C>A	c.(1138-1140)Caa>Aaa	p.Q380K	RFC1_ENST00000349703.2_Missense_Mutation_p.Q380K	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	380					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGATAAGCTTGATAATTAGTG	0.403																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0													137	134	135					4																	39318600		2203	4300	6503	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1138C>A	4.37:g.39318600G>T	ENSP00000371321:p.Gln380Lys		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.Q380K	ENST00000381897.1	37	c.1138	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	G	5.111	0.206193	0.09704	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000504554	T;T;T	0.56275	0.47;0.47;1.03	5.78	5.78	0.91487	.	0.390122	0.29932	N	0.010823	T	0.46210	0.1381	L	0.54323	1.7	0.39883	D	0.973668	B;B	0.16396	0.003;0.017	B;B	0.11329	0.001;0.006	T	0.40136	-0.9579	10	0.09084	T	0.74	-18.0858	14.807	0.69965	0.0:0.0:0.8559:0.1441	.	380;380	P35251;P35251-2	RFC1_HUMAN;.	K	380;380;12	ENSP00000371321:Q380K;ENSP00000261424:Q380K;ENSP00000422129:Q12K	ENSP00000261424:Q380K	Q	-	1	0	RFC1	38994995	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.987000	0.40687	2.738000	0.93877	0.591000	0.81541	CAA	RFC1	-	superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.403	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	-	0	63	0	G	NM_002913		39318600	-1	tier1	-	no_errors	ENST00000381897	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.998	T	T	39318600	G	T	39318600	3	4	38	1	0	0	0	0	1	0	0	0	13289	1299	45	3	2369	3	RFC1	4	39318600	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		39318600	151835676	42	9185											
N4BP2	55728	genome.wustl.edu	37	chr4	40104792	40104792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttacgttggactagttcttGttcttctcagaggtcttccg	5	17	9	10	2	4	1	1	0	4	1	6	2	5	2	1	2	1	3	1	2	2	8			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:40104792G>T	ENST00000261435.6	+	4	1743	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	443					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ACTAGTTCTTGTTCTTCTCAG	0.363																																																	0													65	71	69					4																	40104792		2198	4298	6496	SO:0001583	missense	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1327G>T	4.37:g.40104792G>T	ENSP00000261435:p.Val443Phe		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.V443F	ENST00000261435.6	37	c.1327	CCDS3457.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.267321|3.267321	0.59540|0.59540	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.56103	.|0.48	6.07|6.07	5.24|5.24	0.73138|0.73138	.|.	.|0.178893	.|0.48767	.|D	.|0.000178	T|T	0.64951|0.64951	0.2645|0.2645	L|L	0.51853|0.51853	1.615|1.615	0.51767|0.51767	D|D	0.999938|0.999938	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.71414	.|0.954;0.973	T|T	0.67741|0.67741	-0.5592|-0.5592	5|10	.|0.87932	.|D	.|0	-14.0965|-14.0965	11.5159|11.5159	0.50520|0.50520	0.1366:0.0:0.8634:0.0|0.1366:0.0:0.8634:0.0	.|.	.|443;443	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	F|F	89|443;363	.|ENSP00000261435:V443F	.|ENSP00000261435:V443F	C|V	+|+	2|1	0|0	N4BP2|N4BP2	39781187|39781187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.619000|0.619000	0.37552|0.37552	3.127000|3.127000	0.50484|0.50484	1.576000|1.576000	0.49790|0.49790	0.655000|0.655000	0.94253|0.94253	TGT|GTT	N4BP2	-	superfamily_P-loop_NTPase	ENSG00000078177		0.363	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2		0	39	0	G	NM_018177		40104792	1			no_errors	ENST00000261435	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	40104792	G	T	40104792	3	4	38	1	0	0	0	0	1	0	0	0	10148	1377	48	3	1333	3	N4BP2	4	40104792	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	786192	40104792	151049484	43	9186											
BEND4	389206	genome.wustl.edu	37	chr4	42145781	42145781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaggcagaagtttgttGtttcctttgcatatactgca	12	14	8	7	0	0	1	0	0	0	1	1	1	1	1	1	1	3	6	1	1	5	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:42145781G>T	ENST00000502486.1	-	3	1297	c.718C>A	c.(718-720)Caa>Aaa	p.Q240K	BEND4_ENST00000504360.1_Missense_Mutation_p.Q236K	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	240										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GAAGTTTGTTGTTTCCTTTGC	0.448																																																	0													121	125	124					4																	42145781		1926	4137	6063	SO:0001583	missense	0			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.718C>A	4.37:g.42145781G>T	ENSP00000421169:p.Gln240Lys		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	pfam_BEN_domain	p.Q240K	ENST00000502486.1	37	c.718	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005320	0.54254	.	.	ENSG00000188848	ENST00000411720;ENST00000502486;ENST00000504360	.	.	.	5.52	5.52	0.82312	.	0.215214	0.40385	N	0.001108	T	0.49218	0.1544	N	0.19112	0.55	0.58432	D	0.99999	D;P;D	0.56035	0.974;0.915;0.974	P;B;P	0.48189	0.57;0.366;0.57	T	0.55341	-0.8156	9	0.72032	D	0.01	-12.3555	19.4558	0.94889	0.0:0.0:1.0:0.0	.	162;240;240	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	K	111;240;236	.	ENSP00000412495:Q111K	Q	-	1	0	BEND4	41840538	1.000000	0.71417	0.975000	0.42487	0.015000	0.08874	7.527000	0.81931	2.611000	0.88343	0.655000	0.94253	CAA	BEND4	-	NULL	ENSG00000188848		0.448	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	-	0	41	0	G	NM_207406		42145781	-1	tier1	-	no_errors	ENST00000502486	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T	T	42145781	G	T	42145781	3	4	38	1	0	0	0	0	1	0	0	0	1401	1386	48	3	902	3	BEND4	4	42145781	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2040989	42145781	149008495	44	9187											
ATP8A1	10396	genome.wustl.edu	37	chr4	42554533	42554533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttgtacctggagatgctGcttgataaataatcttgtca	11	15	8	7	0	2	2	1	1	1	1	2	3	2	2	1	1	3	3	1	1	4	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:42554533G>A	ENST00000381668.5	-	17	1739	c.1508C>T	c.(1507-1509)gCa>gTa	p.A503V	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A488V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	503					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGAGATGCTGCTTGATAAAT	0.353																																																	0													134	126	129					4																	42554533		2203	4300	6503	SO:0001583	missense	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1508C>T	4.37:g.42554533G>A	ENSP00000371084:p.Ala503Val		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A503V	ENST00000381668.5	37	c.1508	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.453461	0.96223	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.69306	-0.39;-0.39	5.75	5.75	0.90469	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.86777	0.6014	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.78314	0.983;0.991;0.991	D	0.88758	0.3255	10	0.62326	D	0.03	.	19.94	0.97155	0.0:0.0:1.0:0.0	.	488;488;503	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	V	503;488	ENSP00000371084:A503V;ENSP00000264449:A488V	ENSP00000264449:A488V	A	-	2	0	ATP8A1	42249290	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.762000	0.91711	2.721000	0.93114	0.650000	0.86243	GCA	ATP8A1	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.353	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	38	0	G	NM_006095		42554533	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	71.43	12	30	SNP	1.000	A	A	42554533	G	A	42554533	3	1	38	1	0	0	0	0	1	0	0	0	1193	1319	46	3	2070	3	ATP8A1	4	42554533	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	408752	42554533	148599743	45	9188											
TEC	7006	genome.wustl.edu	37	chr4	48169925	48169925	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctacaacgatttcttCactattatcttcttcttcta	9	18	3	11	1	6	0	1	0	5	0	6	1	6	0	0	1	2	1	0	1	5	9			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:48169925C>A	ENST00000381501.3	-	7	698	c.541G>T	c.(541-543)Gaa>Taa	p.E181*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	181	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACGATTTCTTCACTATTATCT	0.383																																																	0													163	156	159					4																	48169925		2203	4300	6503	SO:0001587	stop_gained	0			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.541G>T	4.37:g.48169925C>A	ENSP00000370912:p.Glu181*		B7ZKZ6|Q3MIS5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif	p.E181*	ENST00000381501.3	37	c.541	CCDS3481.1	4	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673319	0.88445	.	.	ENSG00000135605	ENST00000381501	.	.	.	5.71	5.71	0.89125	.	0.246015	0.41001	D	0.000979	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.0269	0.89272	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000370912:E181X	E	-	1	0	TEC	47864682	1.000000	0.71417	0.991000	0.47740	0.230000	0.25150	6.331000	0.72929	2.710000	0.92621	0.491000	0.48974	GAA	TEC	-	superfamily_SH3_domain,pfscan_SH3_domain	ENSG00000135605		0.383	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEC	HGNC	protein_coding	OTTHUMT00000250492.3		0	31	0	C			48169925	-1			no_errors	ENST00000381501	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.998	A	A	48169925	C	A	48169925	4	1	38	1	0	0	0	0	0	1	0	0	15789	835	29	3	1402	3	TEC	4	48169925	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	5615392	48169925	142984351	46	9189											
CCNI	10983	genome.wustl.edu	37	chr4	77969388	77969388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaactacatgacagaaacaGgctgcaaaggtggacaaggg	17	4	13	7	0	0	2	0	1	0	1	0	4	0	3	0	4	4	2	0	4	5	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:77969388G>T	ENST00000237654.4	-	7	1694	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	CCNI_ENST00000537948.1_Missense_Mutation_p.P359H	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	373					regulation of cell cycle (GO:0051726)|spermatogenesis (GO:0007283)					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GACAGAAACAGGCTGCAAAGG	0.413																																																	0													98	96	96					4																	77969388		2203	4300	6503	SO:0001583	missense	0			D50310	CCDS3580.1	4q21.1	2014-07-03			ENSG00000118816	ENSG00000118816			1595	protein-coding gene	gene with protein product						7493655	Standard	NM_006835		Approved	CCNI1	uc003hkm.3	Q14094	OTTHUMG00000130106	ENST00000237654.4:c.1118C>A	4.37:g.77969388G>T	ENSP00000237654:p.Pro373His		B2R6M0|B7Z6X4	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P373H	ENST00000237654.4	37	c.1118	CCDS3580.1	4	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991008	0.74703	.	.	ENSG00000118816	ENST00000237654;ENST00000537948	T;T	0.38401	1.18;1.14	5.57	5.57	0.84162	.	0.047188	0.85682	D	0.000000	T	0.51991	0.1707	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.975	T	0.53697	-0.8402	10	0.87932	D	0	-8.1184	19.5565	0.95351	0.0:0.0:1.0:0.0	.	359;373	B7Z6X4;Q14094	.;CCNI_HUMAN	H	373;359	ENSP00000237654:P373H;ENSP00000441001:P359H	ENSP00000237654:P373H	P	-	2	0	CCNI	78188412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.314000	0.89980	2.614000	0.88457	0.563000	0.77884	CCT	CCNI	-	NULL	ENSG00000118816		0.413	CCNI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNI	HGNC	protein_coding	OTTHUMT00000252412.2	-	0	45	0	G	NM_006835		77969388	-1	tier1	-	no_errors	ENST00000237654	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	77969388	G	T	77969388	3	4	38	1	0	0	0	0	1	0	0	0	2933	1000	35	3	19	3	CCNI	4	77969388	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	29799463	77969388	113184888	47	9190											
CNOT6L	246175	genome.wustl.edu	37	chr4	78694306	78694306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacccgtaacagattgttaTttaaaagcaattccctgttt	14	14	5	8	1	0	1	0	0	0	1	1	1	1	1	2	0	3	4	2	0	6	7			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:78694306T>C	ENST00000504123.1	-	4	459	c.329A>G	c.(328-330)aAt>aGt	p.N110S	CNOT6L_ENST00000264903.4_Missense_Mutation_p.N110S|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	110	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGATTGTTATTTAAAAGCAA	0.303																																																	0													41	39	40					4																	78694306		1783	4059	5842	SO:0001583	missense	0			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.329A>G	4.37:g.78694306T>C	ENSP00000424896:p.Asn110Ser		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.N110S	ENST00000504123.1	37	c.329		4	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603167	0.28534	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000515441	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.78	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.15478	0.0373	N	0.00258	-1.755	0.80722	D	1	B;B	0.23735	0.09;0.029	B;B	0.30943	0.122;0.086	T	0.06534	-1.0821	10	0.20046	T	0.44	-11.5532	10.6888	0.45858	0.1433:0.0:0.0:0.8567	.	110;110	B4E2S0;Q96LI5	.;CNO6L_HUMAN	S	110;110;117;110	ENSP00000424896:N110S;ENSP00000264903:N110S;ENSP00000425571:N117S;ENSP00000426269:N110S	ENSP00000264903:N110S	N	-	2	0	CNOT6L	78913330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.255000	0.72466	0.645000	0.30675	0.454000	0.30748	AAT	CNOT6L	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000138767		0.303	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	-	0	157	0	T			78694306	-1	tier1	-	no_errors	ENST00000264903	ensembl	human	known	74_37	missense	63.50	50	87	SNP	1.000	C	C	78694306	T	C	78694306	3	2	38	1	0	0	0	0	1	0	0	0	3630	1493	52	4	1374	4	CNOT6L	4	78694306	Missense_Mutation	SNP	T	TCGA-JY-A6FE-01A-11D-A33E-09	724918	78694306	112459970	48	9191											
IBSP	3381	genome.wustl.edu	37	chr4	88723664	88723664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttctttaaaacagatgaAaaatttgcatcgaagagtca	17	12	7	5	1	2	3	1	1	1	2	3	4	2	3	0	0	2	2	0	0	5	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:88723664A>G	ENST00000226284.5	+	3	126	c.59A>G	c.(58-60)aAa>aGa	p.K20R		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	20					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AAACAGATGAAAAATTTGCAT	0.274																																																	0													43	46	45					4																	88723664		2200	4294	6494	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.59A>G	4.37:g.88723664A>G	ENSP00000226284:p.Lys20Arg			Missense_Mutation	SNP	pfam_BSP_II	p.K20R	ENST00000226284.5	37	c.59	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	A	17.88	3.498495	0.64298	.	.	ENSG00000029559	ENST00000226284	T	0.13089	2.62	5.22	5.22	0.72569	.	0.078533	0.53938	D	0.000045	T	0.33469	0.0864	M	0.67953	2.075	0.33975	D	0.647268	D	0.76494	0.999	D	0.87578	0.998	T	0.46938	-0.9155	10	0.44086	T	0.13	.	11.7736	0.51972	1.0:0.0:0.0:0.0	.	20	P21815	SIAL_HUMAN	R	20	ENSP00000226284:K20R	ENSP00000226284:K20R	K	+	2	0	IBSP	88942688	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.687000	0.54692	2.104000	0.64026	0.482000	0.46254	AAA	IBSP	-	pfam_BSP_II	ENSG00000029559		0.274	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	-	0	50	0	A			88723664	1	tier1	-	no_errors	ENST00000226284	ensembl	human	known	74_37	missense	68.63	16	35	SNP	1.000	G	G	88723664	A	G	88723664	3	3	38	1	0	0	0	0	1	0	0	0	7502	14	1	4	65	4	IBSP	4	88723664	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	10029358	88723664	102430612	49	9192											
ABCG2	9429	genome.wustl.edu	37	chr4	89034705	89034705	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggctctatgatctctgtgGctttgcaatcagtggataaa	11	13	10	7	0	3	1	1	1	2	0	4	2	3	2	0	3	1	3	0	3	5	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:89034705G>T	ENST00000237612.3	-	9	1489	c.944C>A	c.(943-945)gCc>gAc	p.A315D	ABCG2_ENST00000515655.1_Splice_Site_p.A315D	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	315				Missing (in Ref. 10; BAA92050). {ECO:0000305}.	cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GATCTCTGTGGCTTTGCAATC	0.393																																																	0													78	78	78					4																	89034705		2203	4300	6503	SO:0001630	splice_region_variant	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.944-1C>A	4.37:g.89034705G>T			A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A315D	ENST00000237612.3	37	c.944	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	G	5.771	0.326655	0.10900	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.27557	1.66;1.66	5.67	-0.116	0.13555	.	0.453783	0.25178	N	0.032547	T	0.18467	0.0443	L	0.38175	1.15	0.09310	N	1	B;B	0.17038	0.02;0.001	B;B	0.27170	0.077;0.003	T	0.17258	-1.0375	10	0.30078	T	0.28	.	1.7884	0.03046	0.2869:0.127:0.4552:0.1309	.	315;315	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	D	315	ENSP00000426917:A315D;ENSP00000237612:A315D	ENSP00000237612:A315D	A	-	2	0	ABCG2	89253729	0.177000	0.23109	0.000000	0.03702	0.015000	0.08874	0.039000	0.13884	-0.398000	0.07679	-0.321000	0.08615	GCC	ABCG2	-	NULL	ENSG00000118777		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	-	0	52	0	G	NM_004827	Missense_Mutation	89034705	-1	tier1	-	no_errors	ENST00000237612	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.002	T	T	89034705	G	T	89034705	5	4	38	1	0	0	0	0	0	0	1	0	69	1217	42	3	1055	3	ABCG2	4	89034705	Splice_Site	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	311041	89034705	102119571	50	9193											
FAM13A	10144	genome.wustl.edu	37	chr4	89772174	89772174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagaaaacatgccaacctgGgtaccaacttggcactaata	17	7	7	10	0	0	1	0	0	0	1	0	1	0	1	3	2	5	2	3	2	8	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:89772174G>T	ENST00000264344.5	-	7	1211	c.1004C>A	c.(1003-1005)cCc>cAc	p.P335H	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	335					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TGCCAACCTGGGTACCAACTT	0.438																																																	0													163	162	162					4																	89772174		2203	4300	6503	SO:0001583	missense	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1004C>A	4.37:g.89772174G>T	ENSP00000264344:p.Pro335His		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P335H	ENST00000264344.5	37	c.1004	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	G	4.324	0.059513	0.08339	.	.	ENSG00000138640	ENST00000264344	T	0.62639	0.01	4.33	3.47	0.39725	.	0.667233	0.14682	N	0.304689	T	0.41743	0.1172	N	0.14661	0.345	0.80722	D	1	B	0.30664	0.289	B	0.23150	0.044	T	0.37641	-0.9697	10	0.46703	T	0.11	.	10.3392	0.43868	0.0:0.199:0.801:0.0	.	335	O94988	FA13A_HUMAN	H	335	ENSP00000264344:P335H	ENSP00000264344:P335H	P	-	2	0	FAM13A	89991197	0.949000	0.32298	0.882000	0.34594	0.264000	0.26372	1.349000	0.33998	1.398000	0.46701	0.650000	0.86243	CCC	FAM13A	-	NULL	ENSG00000138640		0.438	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1		0	29	0	G			89772174	-1			no_errors	ENST00000264344	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.879	T	T	89772174	G	T	89772174	3	4	38	1	0	0	0	0	1	0	0	0	5471	1232	43	3	2172	3	FAM13A	4	89772174	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	737469	89772174	101382102	51	9194											
SH3RF1	57630	genome.wustl.edu	37	chr4	170077739	170077741	+	In_Frame_Del	DEL	ATG	ATG	-																															catccacttgtcttcgcaaaAtgatgatgtcacctttgctg																										TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:170077739_170077741delATG	ENST00000284637.9	-	3	824_826	c.483_485delCAT	c.(481-486)atcatt>att	p.161_162II>I	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	161	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCTTCGCAAAATGATGATGTCAC	0.394																																																	0																																										SO:0001651	inframe_deletion	0			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.483_485delCAT	4.37:g.170077745_170077747delATG	ENSP00000284637:p.Ile162del		Q05BT2|Q8IW46|Q9HAM2|Q9P234	In_Frame_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.I162in_frame_del	ENST00000284637.9	37	c.485_483	CCDS34099.1	4																																																																																			SH3RF1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000154447		0.394	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3		0	36	0	ATG	NM_020870		170077741	-1	tier1		no_errors	ENST00000284637	ensembl	human	known	74_37	in_frame_del	52.94	32	36	DEL	1.000:1.000:1.000	-	-	170077741	ATG	-	170077739	7	5	38	1	0	1	0	1	0	0	0	0	14303	101	4	0	2221	0	SH3RF1	4	170077739	In_Frame_Del	DEL	ATG	TCGA-JY-A6FE-01A-11D-A33E-09	80305565	170077739	21076537	52	9195											
ADAM29	11086	genome.wustl.edu	37	chr4	175898248	175898248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacttgctacaaagaattGaacaccttaggtgaccgtgt	13	10	10	8	1	0	4	0	2	0	2	0	5	0	4	2	1	3	1	2	1	5	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr4:175898248G>T	ENST00000359240.3	+	5	2242	c.1572G>T	c.(1570-1572)ttG>ttT	p.L524F	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.L524F|ADAM29_ENST00000404450.4_Missense_Mutation_p.L524F|ADAM29_ENST00000445694.1_Missense_Mutation_p.L524F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	524	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACAAAGAATTGAACACCTTAG	0.418																																					Ovarian(140;1727 1835 21805 25838 41440)												0													84	87	86					4																	175898248		2203	4300	6503	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1572G>T	4.37:g.175898248G>T	ENSP00000352177:p.Leu524Phe		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L524F	ENST00000359240.3	37	c.1572	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011241	0.35511	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	3.48	-4.32	0.03688	ADAM, cysteine-rich (2);	1.724340	0.04595	U	0.397384	T	0.31451	0.0797	L	0.35723	1.085	0.09310	N	1	D	0.58620	0.983	P	0.59546	0.859	T	0.37572	-0.9700	9	.	.	.	.	6.6723	0.23076	0.5453:0.1285:0.3263:0.0	.	524	Q9UKF5	ADA29_HUMAN	F	524	ENSP00000352177:L524F;ENSP00000414544:L524F;ENSP00000384229:L524F;ENSP00000423517:L524F	.	L	+	3	2	ADAM29	176134823	0.652000	0.27349	0.001000	0.08648	0.002000	0.02628	-0.262000	0.08682	-1.064000	0.03172	-0.148000	0.13756	TTG	ADAM29	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000168594		0.418	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding			0	19	0	G			175898248	1			no_errors	ENST00000359240	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.005	T	T	175898248	G	T	175898248	3	4	38	1	0	0	0	0	1	0	0	0	247	1281	45	3	1574	3	ADAM29	4	175898248	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	5820509	175898248	15256028	53	9196											
DNAH5	1767	genome.wustl.edu	37	chr5	13766214	13766214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaacagcagcagtacgcaAtccatgatccgcatgatgag	14	7	10	10	2	0	4	0	4	0	0	2	4	2	4	2	0	4	5	2	0	3	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:13766214A>C	ENST00000265104.4	-	59	10076	c.9972T>G	c.(9970-9972)gaT>gaG	p.D3324E	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3324	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGTACGCAATCCATGATCC	0.522									Kartagener syndrome																																								0													115	112	113					5																	13766214		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9972T>G	5.37:g.13766214A>C	ENSP00000265104:p.Asp3324Glu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D3324E	ENST00000265104.4	37	c.9972	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445798	0.84101	.	.	ENSG00000039139	ENST00000265104	T	0.55930	0.49	5.63	-1.69	0.08186	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	L	0.58969	1.84	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.62737	-0.6791	10	0.39692	T	0.17	.	13.7651	0.62990	0.1959:0.0:0.8041:0.0	.	3324	Q8TE73	DYH5_HUMAN	E	3324	ENSP00000265104:D3324E	ENSP00000265104:D3324E	D	-	3	2	DNAH5	13819214	0.999000	0.42202	0.992000	0.48379	0.892000	0.51952	0.456000	0.21859	-0.098000	0.12285	0.456000	0.33151	GAT	DNAH5	-	NULL	ENSG00000039139		0.522	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	65	0	A	NM_001369		13766214	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	60.00	41	63	SNP	0.998	C	C	13766214	A	C	13766214	3	2	38	1	0	0	0	0	1	0	0	0	4618	98	4	4	3986	4	DNAH5	5	13766214	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09		13766214	167149046	54	9197											
GPR98	84059	genome.wustl.edu	37	chr5	90001286	90001286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcacagtagaagccaGtgatgaaccacatggagttt	12	10	10	9	0	1	3	1	2	0	1	2	4	2	4	3	1	2	2	3	1	3	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:90001286G>T	ENST00000405460.2	+	37	8552	c.8456G>T	c.(8455-8457)aGt>aTt	p.S2819I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2819	Calx-beta 20. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S2819I(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAGCCAGTGATGAACCA	0.413																																																	1	Substitution - Missense(1)	lung(1)											192	182	185					5																	90001286		1934	4156	6090	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.8456G>T	5.37:g.90001286G>T	ENSP00000384582:p.Ser2819Ile		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S2819I	ENST00000405460.2	37	c.8456	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.079860|5.079860	0.94050|0.94050	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.31247|.	1.5|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Na-Ca exchanger/integrin-beta4 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83487|0.83487	0.5265|0.5265	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	D|D	0.84040|0.84040	0.0364|0.0364	10|5	0.87932|.	D|.	0|.	.|.	20.0204|20.0204	0.97499|0.97499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2819;2819|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	I|L	2819|385	ENSP00000384582:S2819I|.	ENSP00000296619:S2819I|.	S|V	+|+	2|1	0|0	GPR98|GPR98	90037042|90037042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	9.248000|9.248000	0.95456|0.95456	2.729000|2.729000	0.93468|0.93468	0.650000|0.650000	0.86243|0.86243	AGT|GTG	GPR98	-	smart_Calx_beta	ENSG00000164199		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	30	0	G	NM_032119		90001286	1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	90001286	G	T	90001286	3	4	38	1	0	0	0	0	1	0	0	0	6748	1029	36	3	8602	3	GPR98	5	90001286	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	76235072	90001286	90913974	55	9198											
LNPEP	4012	genome.wustl.edu	37	chr5	96332092	96332092	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgttttctctccccccAgtggtttggcaatctggtaa	7	16	8	10	0	2	0	0	0	2	0	4	0	3	0	3	3	0	4	3	3	3	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:96332092A>G	ENST00000231368.5	+	7	2099		c.e7-1		LNPEP_ENST00000395770.3_Splice_Site	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCTCCCCCCAGTGGTTTGGC	0.358																																																	0													100	98	99					5																	96332092		2203	4300	6503	SO:0001630	splice_region_variant	0			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"cystinyl aminopeptidase", "placental leucine aminopeptidase"	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1408-1A>G	5.37:g.96332092A>G			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Splice_Site	SNP	-	e7-2	ENST00000231368.5	37	c.1408-2	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759924	0.49468	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0958	0.72232	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LNPEP	96357848	1.000000	0.71417	0.996000	0.52242	0.610000	0.37248	9.209000	0.95087	2.100000	0.63781	0.460000	0.39030	.	LNPEP	-	-	ENSG00000113441		0.358	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1		0	92	0	A	NM_005575	Intron	96332092	1			no_errors	ENST00000231368	ensembl	human	known	74_37	splice_site	5.60	118	7	SNP	1.000	G	G	96332092	A	G	96332092	5	3	38	1	0	0	0	0	0	0	1	0	8894	202	7	4	1432	4	LNPEP	5	96332092	Splice_Site	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	6330806	96332092	84583168	56	9199											
LMNB1	4001	genome.wustl.edu	37	chr5	126113416	126113416	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgcgaggaggtgcgcggCcgtgagctcaccggcctcaa	7	4	17	13	6	2	1	2	1	0	0	2	4	2	2	3	4	3	1	3	4	1	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:126113416C>T	ENST00000261366.5	+	1	577	c.216C>T	c.(214-216)ggC>ggT	p.G72G	RP11-434D11.4_ENST00000509185.2_lincRNA|LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Silent_p.G72G	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	72	Linker 1.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		AGGTGCGCGGCCGTGAGCTCA	0.701																																																	0													5	6	6					5																	126113416		1984	3931	5915	SO:0001819	synonymous_variant	0			L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"Intermediate filaments type V, lamins"	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.216C>T	5.37:g.126113416C>T			B2R6J6|Q3SYN7|Q96EI6	Silent	SNP	pfam_IF,pfam_Lamin_tail_dom	p.G72	ENST00000261366.5	37	c.216	CCDS4140.1	5																																																																																			LMNB1	-	pfam_IF	ENSG00000113368		0.701	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNB1	HGNC	protein_coding	OTTHUMT00000250956.2	-	0	12	0	C	NM_005573		126113416	1	tier1	-	no_errors	ENST00000261366	ensembl	human	known	74_37	silent	62.50	3	5	SNP	1.000	T	T	126113416	C	T	126113416	2	4	38	1	0	0	0	0	0	0	0	1	8879	726	26	3		3	LMNB1	5	126113416	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	29781324	126113416	54801844	57	9200											
RAD50	10111	genome.wustl.edu	37	chr5	131931369	131931369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagtttttcagacagagGctgagttacaagaagtcatc	14	10	11	6	0	2	5	2	1	0	4	3	6	2	5	0	1	1	3	0	1	3	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:131931369G>T	ENST00000265335.6	+	13	2461	c.2074G>T	c.(2074-2076)Gct>Tct	p.A692S	RAD50_ENST00000378823.3_Missense_Mutation_p.A553S			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	692	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGACAGAGGCTGAGTTACA	0.443								Homologous recombination																																									0													96	85	89					5																	131931369		2203	4300	6503	SO:0001583	missense	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2074G>T	5.37:g.131931369G>T	ENSP00000265335:p.Ala692Ser		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.A692S	ENST00000265335.6	37	c.2074	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	G	8.067	0.769404	0.15983	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.41065	1.01;1.01;1.01	6.07	3.35	0.38373	Zinc hook, Rad50 (1);Rad50 zinc hook (1);	0.109197	0.64402	D	0.000007	T	0.18800	0.0451	N	0.11106	0.095	0.49130	D	0.99975	B	0.06786	0.001	B	0.11329	0.006	T	0.08391	-1.0724	10	0.07030	T	0.85	0.7768	7.4755	0.27374	0.1876:0.0:0.6955:0.117	.	692	Q92878	RAD50_HUMAN	S	553;692;631	ENSP00000368100:A553S;ENSP00000265335:A692S;ENSP00000400049:A631S	ENSP00000265335:A692S	A	+	1	0	RAD50	131959268	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	1.616000	0.36933	0.450000	0.26774	0.655000	0.94253	GCT	RAD50	-	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	ENSG00000113522		0.443	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	-	0	42	0	G	NM_005732		131931369	1	tier1	-	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	131931369	G	T	131931369	3	4	38	1	0	0	0	0	1	0	0	0	13029	1203	42	3	2124	3	RAD50	5	131931369	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	5817953	131931369	48983891	58	9201											
FAM13B	51306	genome.wustl.edu	37	chr5	137323168	137323168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actggttattagatccttccCcatcacaatgaatactttct	11	15	4	11	0	2	2	1	1	1	1	4	2	4	2	3	1	1	1	3	1	5	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:137323168C>A	ENST00000033079.3	-	9	1479	c.1028G>T	c.(1027-1029)gGg>gTg	p.G343V	FAM13B_ENST00000425075.2_Missense_Mutation_p.G225V|FAM13B_ENST00000420893.2_Missense_Mutation_p.G343V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	343					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AGATCCTTCCCCATCACAATG	0.299																																																	0													102	87	92					5																	137323168		2202	4300	6502	SO:0001583	missense	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1028G>T	5.37:g.137323168C>A	ENSP00000033079:p.Gly343Val		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G343V	ENST00000033079.3	37	c.1028	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359863	0.41801	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.22539	3.05;1.95;3.05	5.9	4.99	0.66335	.	0.630590	0.16709	N	0.202774	T	0.15955	0.0384	L	0.36672	1.1	0.45747	D	0.998642	B;B;B	0.30361	0.277;0.13;0.09	B;B;B	0.32289	0.143;0.136;0.068	T	0.08932	-1.0698	10	0.30854	T	0.27	-3.4911	5.8415	0.18637	0.0:0.6824:0.0:0.3176	.	225;343;343	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	V	343;225;343	ENSP00000033079:G343V;ENSP00000394669:G225V;ENSP00000388521:G343V	ENSP00000033079:G343V	G	-	2	0	FAM13B	137351067	0.973000	0.33851	1.000000	0.80357	0.995000	0.86356	0.962000	0.29280	1.366000	0.46076	0.650000	0.86243	GGG	FAM13B	-	NULL	ENSG00000031003		0.299	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1		0	23	0	C			137323168	-1			no_errors	ENST00000033079	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	137323168	C	A	137323168	3	1	38	1	0	0	0	0	1	0	0	0	5472	623	22	3	1849	3	FAM13B	5	137323168	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	5391799	137323168	43592092	59	9202											
PCDHGB6	56100	genome.wustl.edu	37	chr5	140789354	140789354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagcagctgcgcgccttcGcgctcacgctgcaggcccgc	5	5	13	18	7	1	0	1	0	0	0	2	1	1	0	2	1	4	5	2	1	0	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:140789354G>A	ENST00000520790.1	+	1	1585	c.1585G>A	c.(1585-1587)Gcg>Acg	p.A529T	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCTTCGCGCTCACGCT	0.692																																																	0													17	20	19					5																	140789354		2005	4162	6167	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1585G>A	5.37:g.140789354G>A	ENSP00000428603:p.Ala529Thr		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A529T	ENST00000520790.1	37	c.1585	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	10.43	1.349016	0.24426	.	.	ENSG00000253305	ENST00000520790	T	0.01821	4.62	5.36	-2.5	0.06384	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.00906	0.0030	N	0.01410	-0.885	0.21627	N	0.999611	B;B	0.20164	0.042;0.034	B;B	0.14578	0.011;0.006	T	0.49051	-0.8979	9	0.87932	D	0	.	11.6796	0.51451	0.0634:0.6268:0.2181:0.0918	.	529;529	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	T	529	ENSP00000428603:A529T	ENSP00000428603:A529T	A	+	1	0	PCDHGB6	140769538	0.000000	0.05858	0.573000	0.28510	0.157000	0.22087	-2.687000	0.00833	-0.945000	0.03681	-0.502000	0.04539	GCG	PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.692	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	-	0	38	0	G	NM_018926		140789354	1	tier1	-	no_errors	ENST00000520790	ensembl	human	known	74_37	missense	82.35	6	28	SNP	0.876	A	A	140789354	G	A	140789354	3	1	38	1	0	0	0	0	1	0	0	0	11606	1087	38	1	1587	1	PCDHGB6	5	140789354	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	3466186	140789354	40125906	60	9203											
YIPF5	81555	genome.wustl.edu	37	chr5	143545145	143545145	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaaatctgccttgctgcGaatagtcatagccagcatac	12	9	9	11	1	2	0	1	0	1	0	2	2	2	1	2	1	6	2	2	1	5	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:143545145G>T	ENST00000274496.5	-	3	268	c.134C>A	c.(133-135)tCg>tAg	p.S45*	YIPF5_ENST00000513112.1_5'UTR|YIPF5_ENST00000448443.2_Nonsense_Mutation_p.S45*	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	45					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)		p.S45L(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCCTTGCTGCGAATAGTCATA	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)											157	138	144					5																	143545145		2203	4300	6503	SO:0001587	stop_gained	0			AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"Yip1 domain family"	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.134C>A	5.37:g.143545145G>T	ENSP00000274496:p.Ser45*		D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Nonsense_Mutation	SNP	pfam_Yip1	p.S45*	ENST00000274496.5	37	c.134	CCDS4279.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.065483	0.97251	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000536767	.	.	.	6.02	5.14	0.70334	.	0.251992	0.41294	D	0.000915	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6498	11.1335	0.48360	0.0675:0.1264:0.8061:0.0	.	.	.	.	X	45	.	ENSP00000274496:S45X	S	-	2	0	YIPF5	143525338	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.562000	0.73960	2.857000	0.98124	0.650000	0.86243	TCG	YIPF5	-	NULL	ENSG00000145817		0.408	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF5	HGNC	protein_coding	OTTHUMT00000251882.1		0	24	0	G	NM_030799		143545145	-1			no_errors	ENST00000274496	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.996	T	T	143545145	G	T	143545145	4	4	38	1	0	0	0	0	0	1	0	0	17530	1059	37	2	655	2	YIPF5	5	143545145	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2755791	143545145	37370115	61	9204											
LARP1	23367	genome.wustl.edu	37	chr5	154172210	154172210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaagcctcagcctacccGtaaactgccacccaagaagg	13	4	7	17	1	1	1	1	0	0	1	1	1	1	1	6	1	5	1	6	1	6	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:154172210G>T	ENST00000336314.4	+	4	386	c.362G>T	c.(361-363)cGt>cTt	p.R121L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	198					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCCTACCCGTAAACTGCCA	0.498																																																	0													195	183	187					5																	154172210		2203	4300	6503	SO:0001583	missense	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"La ribonucleoprotein domain containing"	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.362G>T	5.37:g.154172210G>T	ENSP00000336721:p.Arg121Leu		O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.R121L	ENST00000336314.4	37	c.362	CCDS4328.1	5	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647466	0.67358	.	.	ENSG00000155506	ENST00000336314;ENST00000518297	T;T	0.41400	1.89;1.0	5.93	5.06	0.68205	.	0.112447	0.64402	D	0.000012	T	0.49270	0.1547	L	0.41492	1.28	0.46849	D	0.999221	P;D	0.55800	0.555;0.973	B;P	0.57101	0.115;0.813	T	0.39860	-0.9593	10	0.31617	T	0.26	-8.0234	14.8626	0.70392	0.0686:0.0:0.9314:0.0	.	198;121	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	L	121;198	ENSP00000336721:R121L;ENSP00000428589:R198L	ENSP00000336721:R121L	R	+	2	0	LARP1	154152403	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.070000	0.76763	1.497000	0.48584	0.655000	0.94253	CGT	LARP1	-	NULL	ENSG00000155506		0.498	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1		0	48	0	G	NM_033551		154172210	1			no_errors	ENST00000336314	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.995	T	T	154172210	G	T	154172210	3	4	38	1	0	0	0	0	1	0	0	0	8656	1145	40	2	376	2	LARP1	5	154172210	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	10627065	154172210	26743050	62	9205											
DOCK2	1794	genome.wustl.edu	37	chr5	169097578	169097578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatttatccacatcaaGgaagtgacagttgagaaaag	17	9	9	6	0	2	2	2	2	0	1	3	4	3	3	1	1	0	1	1	1	6	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr5:169097578G>T	ENST00000256935.8	+	4	281	c.201G>T	c.(199-201)aaG>aaT	p.K67N		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	67	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACATCAAGGAAGTGACAG	0.358																																																	0													103	98	100					5																	169097578		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.201G>T	5.37:g.169097578G>T	ENSP00000256935:p.Lys67Asn		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K67N	ENST00000256935.8	37	c.201	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638238	0.67130	.	.	ENSG00000134516	ENST00000256935	T	0.05025	3.51	5.59	0.966	0.19667	Src homology-3 domain (3);	0.102149	0.64402	D	0.000004	T	0.16428	0.0395	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00422	-1.1749	10	0.51188	T	0.08	.	8.8254	0.35052	0.5491:0.0:0.4509:0.0	.	67	Q92608	DOCK2_HUMAN	N	67	ENSP00000256935:K67N	ENSP00000256935:K67N	K	+	3	2	DOCK2	169030156	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.898000	0.39809	0.245000	0.21373	0.563000	0.77884	AAG	DOCK2	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000134516		0.358	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	38	0	G	NM_004946		169097578	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.998	T	T	169097578	G	T	169097578	3	4	38	1	0	0	0	0	1	0	0	0	4701	991	35	3	215	3	DOCK2	5	169097578	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	14925368	169097578	11817682	63	9206											
MRPL14	64928	genome.wustl.edu	37	chr6	44081844	44081844	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccattcttcttatagacatgGatgcagcgaggagcccgatg	10	10	11	10	2	2	1	0	0	2	1	2	5	2	3	2	2	3	1	2	2	2	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:44081844G>T	ENST00000372014.3	-	3	305	c.174C>A	c.(172-174)atC>atA	p.I58I		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	58					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			TATAGACATGGATGCAGCGAG	0.562																																																	0													191	192	191					6																	44081844		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051339	CCDS34460.1	6p21.3	2012-09-13			ENSG00000180992	ENSG00000180992		"Mitochondrial ribosomal proteins / large subunits"	14279	protein-coding gene	gene with protein product		611827					Standard	XM_005249300		Approved	RPML32, MRP-L32	uc003owp.3	Q6P1L8	OTTHUMG00000014756	ENST00000372014.3:c.174C>A	6.37:g.44081844G>T			B2R575|Q96Q72	Silent	SNP	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	p.I58	ENST00000372014.3	37	c.174	CCDS34460.1	6																																																																																			MRPL14	-	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	ENSG00000180992		0.562	MRPL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL14	HGNC	protein_coding	OTTHUMT00000040707.1	-	0	26	0	G	NM_032111		44081844	-1	tier1	-	no_errors	ENST00000372014	ensembl	human	known	74_37	silent	20.00	12	3	SNP	1.000	T	T	44081844	G	T	44081844	2	4	38	1	0	0	0	0	0	0	0	1	9817	1164	41	3		3	MRPL14	6	44081844	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		44081844	127033223	64	9207											
DST	667	genome.wustl.edu	37	chr6	56437732	56437732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttgcttctgaaaaccgaGcagacaagtctttcattttg	11	13	8	9	1	3	2	1	1	2	1	3	4	3	2	1	0	3	2	1	0	3	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:56437732G>A	ENST00000361203.3	-	48	12741	c.12734C>T	c.(12733-12735)gCt>gTt	p.A4245V	DST_ENST00000244364.6_Missense_Mutation_p.A1833V|DST_ENST00000446842.2_Missense_Mutation_p.A3921V|DST_ENST00000370769.4_Missense_Mutation_p.A4247V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.A4425V|DST_ENST00000421834.2_Missense_Mutation_p.A2159V|DST_ENST00000370788.2_Missense_Mutation_p.A2159V			Q03001	DYST_HUMAN	dystonin	4245					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAAAACCGAGCAGACAAGTC	0.388																																																	0													113	98	103					6																	56437732		1866	4116	5982	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12734C>T	6.37:g.56437732G>A	ENSP00000354508:p.Ala4245Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A4425V	ENST00000361203.3	37	c.13274		6	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458602	0.26248	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.78	-4.99	0.03010	.	1.308000	0.05475	N	0.553864	T	0.05731	0.0150	N	0.08118	0	0.23376	N	0.997805	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.10450	0.0;0.002;0.004;0.0;0.005	T	0.25813	-1.0121	9	0.25751	T	0.34	.	9.6334	0.39793	0.269:0.2937:0.4373:0.0	.	2159;4247;4425;4245;1833	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	1833;4425;4247;2159;3921;2159;4245	ENSP00000244364:A1833V;ENSP00000359790:A4425V;ENSP00000359805:A4247V;ENSP00000400883:A2159V;ENSP00000393645:A3921V;ENSP00000359824:A2159V;ENSP00000354508:A4245V	ENSP00000244364:A1833V	A	-	2	0	DST	56545691	0.000000	0.05858	0.010000	0.14722	0.914000	0.54420	0.366000	0.20365	-1.265000	0.02449	-0.312000	0.09012	GCT	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	41	0	G	NM_001723		56437732	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	28.66	112	45	SNP	0.000	A	A	56437732	G	A	56437732	3	1	38	1	0	0	0	0	1	0	0	0	4797	971	34	3	10225	3	DST	6	56437732	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	12355888	56437732	114677335	65	9208											
OGFRL1	79627	genome.wustl.edu	37	chr6	72011135	72011135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtattcttaaaagccttGgtgagcttggatatgaaagt	11	14	10	6	1	1	2	0	2	1	0	2	3	1	3	1	2	2	2	1	2	5	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:72011135G>T	ENST00000370435.4	+	7	873	c.739G>T	c.(739-741)Ggt>Tgt	p.G247C	RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	247						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TAAAAGCCTTGGTGAGCTTGG	0.383																																																	0													182	208	199					6																	72011135		2203	4300	6503	SO:0001583	missense	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.739G>T	6.37:g.72011135G>T	ENSP00000359464:p.Gly247Cys		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.G247C	ENST00000370435.4	37	c.739	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761108	0.89932	.	.	ENSG00000119900	ENST00000370435	T	0.53423	0.62	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62969	-0.6741	10	0.56958	D	0.05	-18.6506	20.5948	0.99439	0.0:0.0:1.0:0.0	.	247	Q5TC84	OGRL1_HUMAN	C	247	ENSP00000359464:G247C	ENSP00000359464:G247C	G	+	1	0	OGFRL1	72067856	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GGT	OGFRL1	-	pfam_OGF_rcpt	ENSG00000119900		0.383	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	-	0	44	0	G	NM_024576		72011135	1	tier1	-	no_errors	ENST00000370435	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	72011135	G	T	72011135	3	4	38	1	0	0	0	0	1	0	0	0	10883	1348	47	3	765	3	OGFRL1	6	72011135	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	15573403	72011135	99103932	66	9209											
GJB7	375519	genome.wustl.edu	37	chr6	87994440	87994440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggaagaagtcatcaaaaCacacatttttgcaaccgggc	14	8	10	9	1	2	1	2	0	0	1	2	2	2	2	1	3	3	1	1	3	5	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:87994440C>T	ENST00000525899.1	-	3	536	c.191G>A	c.(190-192)tGt>tAt	p.C64Y	GJB7_ENST00000296882.3_Missense_Mutation_p.C64Y	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	64					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GTCATCAAAACACACATTTTT	0.463																																																	0													121	111	114					6																	87994440		2203	4300	6503	SO:0001583	missense	0			AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"Ion channels / Gap junction proteins (connexins)"	16690	protein-coding gene	gene with protein product	"connexin 25"	611921	"gap junction protein, beta 7"				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.191G>A	6.37:g.87994440C>T	ENSP00000435355:p.Cys64Tyr		B3KXL0|Q96KP0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.C64Y	ENST00000525899.1	37	c.191	CCDS5008.1	6	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823288	0.50739	.	.	ENSG00000164411	ENST00000525899;ENST00000296882;ENST00000369576	D;D;D	0.99745	-6.61;-6.61;-6.61	4.84	4.84	0.62591	Connexin, N-terminal (2);	0.000000	0.85682	U	0.000000	D	0.99816	0.9919	H	0.94698	3.57	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.96804	0.9591	10	0.87932	D	0	.	16.5201	0.84311	0.0:1.0:0.0:0.0	.	64	Q6PEY0	CXB7_HUMAN	Y	64	ENSP00000435355:C64Y;ENSP00000296882:C64Y;ENSP00000358589:C64Y	ENSP00000296882:C64Y	C	-	2	0	GJB7	88051159	1.000000	0.71417	1.000000	0.80357	0.152000	0.21847	7.317000	0.79018	2.227000	0.72691	0.561000	0.74099	TGT	GJB7	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000164411		0.463	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB7	HGNC	protein_coding	OTTHUMT00000394780.1	-	0	37	0	C			87994440	-1	tier1	-	no_errors	ENST00000296882	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	T	T	87994440	C	T	87994440	3	4	38	1	0	0	0	0	1	0	0	0	6439	478	17	3	484	3	GJB7	6	87994440	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	15983305	87994440	83120627	67	9210											
ATG5	9474	genome.wustl.edu	37	chr6	106740953	106740953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaacttgatgcaagaaGatcaaatagcaaaccaattg	18	8	8	7	0	1	4	1	2	0	2	1	4	1	4	1	0	5	3	1	0	7	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:106740953G>T	ENST00000369076.3	-	4	588	c.265C>A	c.(265-267)Ctt>Att	p.L89I	ATG5_ENST00000343245.3_Missense_Mutation_p.L89I|ATG5_ENST00000369070.1_Missense_Mutation_p.L11I|ATG5_ENST00000360666.4_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	89					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GATGCAAGAAGATCAAATAGC	0.294																																																	0													113	113	113					6																	106740953		2203	4299	6502	SO:0001583	missense	0			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.265C>A	6.37:g.106740953G>T	ENSP00000358072:p.Leu89Ile		O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	pfam_Atg5	p.L89I	ENST00000369076.3	37	c.265	CCDS5055.1	6	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706916	0.68615	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	5.6	5.6	0.85130	.	0.123008	0.53938	D	0.000056	T	0.72028	0.3410	M	0.86028	2.79	0.80722	D	1	B;B;B	0.30793	0.211;0.295;0.211	P;B;P	0.45913	0.497;0.328;0.497	T	0.74269	-0.3720	9	0.52906	T	0.07	-13.4536	12.1521	0.54055	0.08:0.0:0.92:0.0	.	89;11;89	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	I	89;89;11	.	ENSP00000343313:L89I	L	-	1	0	ATG5	106847646	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.772000	0.55325	2.800000	0.96347	0.655000	0.94253	CTT	ATG5	-	pfam_Atg5	ENSG00000057663		0.294	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	HGNC	protein_coding	OTTHUMT00000043476.1	-	0	55	0	G	NM_004849		106740953	-1	tier1	-	no_errors	ENST00000343245	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T	T	106740953	G	T	106740953	3	4	38	1	0	0	0	0	1	0	0	0	1101	942	33	3	582	3	ATG5	6	106740953	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	18746513	106740953	64374114	68	9211											
NCOA7	135112	genome.wustl.edu	37	chr6	126176272	126176272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagtagttttagagccaGacaagtgcaacattgctgtg	13	11	10	7	0	0	2	0	0	0	2	0	2	0	2	1	0	5	4	1	0	5	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:126176272G>T	ENST00000368357.3	+	4	509	c.157G>T	c.(157-159)Gac>Tac	p.D53Y	NCOA7_ENST00000392477.2_Missense_Mutation_p.D53Y|NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000229634.9_Intron	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	53					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.D53H(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TTTAGAGCCAGACAAGTGCAA	0.378																																																	1	Substitution - Missense(1)	lung(1)											187	203	197					6																	126176272		2203	4300	6503	SO:0001583	missense	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.157G>T	6.37:g.126176272G>T	ENSP00000357341:p.Asp53Tyr		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.D53Y	ENST00000368357.3	37	c.157	CCDS5132.1	6	.	.	.	.	.	.	.	.	.	.	G	18.05	3.537134	0.65085	.	.	ENSG00000111912	ENST00000368357;ENST00000431092;ENST00000392477;ENST00000453302;ENST00000417494;ENST00000428318;ENST00000419660	T;T;T;T	0.59224	2.28;2.28;0.28;0.44	5.39	5.39	0.77823	.	0.182796	0.37955	N	0.001871	T	0.56659	0.2000	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.69078	0.992;0.997;0.97;0.963	P;D;P;P	0.63033	0.873;0.91;0.79;0.642	T	0.61382	-0.7074	10	0.72032	D	0.01	-30.4561	17.5251	0.87798	0.0:0.0:1.0:0.0	.	53;53;53;53	Q8NI08-6;Q8NI08-2;Q8NI08-4;Q8NI08	.;.;.;NCOA7_HUMAN	Y	53	ENSP00000357341:D53Y;ENSP00000376269:D53Y;ENSP00000406363:D53Y;ENSP00000408211:D53Y	ENSP00000357341:D53Y	D	+	1	0	NCOA7	126217965	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.806000	0.69150	2.810000	0.96702	0.650000	0.86243	GAC	NCOA7	-	NULL	ENSG00000111912		0.378	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4		0	37	0	G	XM_059748		126176272	1			no_errors	ENST00000368357	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	126176272	G	T	126176272	3	4	38	1	0	0	0	0	1	0	0	0	10273	942	33	3	163	3	NCOA7	6	126176272	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	19435319	126176272	44938795	69	9212											
ENPP1	5167	genome.wustl.edu	37	chr6	132201052	132201052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatgaaactttaccctatGgaagacctagagttctccag	13	10	8	10	0	1	3	0	1	1	2	2	4	1	4	3	1	3	2	3	1	5	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:132201052G>A	ENST00000360971.2	+	20	1998	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	660	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTTACCCTATGGAAGACCTAG	0.383																																					Colon(104;336 1535 5856 11019 33782)												0													138	131	134					6																	132201052		2203	4300	6503	SO:0001583	missense	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1978G>A	6.37:g.132201052G>A	ENSP00000354238:p.Gly660Arg		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.G660R	ENST00000360971.2	37	c.1978	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057576	0.76074	.	.	ENSG00000197594	ENST00000360971	D	0.86432	-2.12	5.69	5.69	0.88448	Extracellular Endonuclease, subunit A (1);	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	M	0.72118	2.19	0.80722	D	1	B	0.31859	0.343	B	0.36030	0.216	D	0.86304	0.1682	10	0.87932	D	0	-17.1497	19.3914	0.94584	0.0:0.0:1.0:0.0	.	660	P22413	ENPP1_HUMAN	R	660	ENSP00000354238:G660R	ENSP00000354238:G660R	G	+	1	0	ENPP1	132242745	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.095000	0.89535	2.684000	0.91462	0.563000	0.77884	GGA	ENPP1	-	NULL	ENSG00000197594		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	-	0	39	0	G			132201052	1	tier1	-	no_errors	ENST00000360971	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	A	A	132201052	G	A	132201052	3	1	38	1	0	0	0	0	1	0	0	0	5145	1349	47	3	2056	3	ENPP1	6	132201052	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	6024780	132201052	38914015	70	9213											
UTRN	7402	genome.wustl.edu	37	chr6	145156978	145156978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggagagtccccagtgaGccagccgcagagcccagctc	9	3	14	15	2	0	3	0	1	0	2	2	5	1	4	5	2	4	2	5	2	0	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:145156978G>T	ENST00000367545.3	+	69	9728	c.9728G>T	c.(9727-9729)aGc>aTc	p.S3243I	UTRN_ENST00000367526.4_Missense_Mutation_p.S798I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3243					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCCCCAGTGAGCCAGCCGCAG	0.547																																																	0													120	124	123					6																	145156978		2203	4300	6503	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9728G>T	6.37:g.145156978G>T	ENSP00000356515:p.Ser3243Ile		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.S3243I	ENST00000367545.3	37	c.9728	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.558241	0.96514	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000455022	D;D;D	0.84146	-1.81;-1.81;-1.81	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000006	D	0.90848	0.7125	M	0.79805	2.47	0.58432	D	0.999993	D	0.63880	0.993	P	0.58130	0.833	D	0.90971	0.4820	10	0.72032	D	0.01	.	20.2768	0.98488	0.0:0.0:1.0:0.0	.	3243	P46939	UTRO_HUMAN	I	3243;798;155	ENSP00000356515:S3243I;ENSP00000356496:S798I;ENSP00000387927:S155I	ENSP00000356496:S798I	S	+	2	0	UTRN	145198671	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.762000	0.98944	2.808000	0.96608	0.650000	0.86243	AGC	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.547	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1		0	62	0	G			145156978	1			no_errors	ENST00000367545	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	145156978	G	T	145156978	3	4	38	1	0	0	0	0	1	0	0	0	17152	971	34	3	10002	3	UTRN	6	145156978	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	12955926	145156978	25958089	71	9214											
RGS17	26575	genome.wustl.edu	37	chr6	153365046	153365046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacataccaggagcagctGcaacaacagcaccaacaaaa	19	3	7	12	0	0	1	0	1	0	0	0	2	0	2	2	1	8	4	2	1	6	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:153365046G>C	ENST00000367225.2	-	1	132	c.108C>G	c.(106-108)tgC>tgG	p.C36W	RGS17_ENST00000206262.1_Missense_Mutation_p.C36W			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	36	Poly-Cys.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AGGAGCAGCTGCAACAACAGC	0.507																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												0													161	152	155					6																	153365046		2203	4300	6503	SO:0001583	missense	0			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"Regulators of G-protein signaling"	14088	protein-coding gene	gene with protein product		607191	"regulator of G-protein signalling 17"			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.108C>G	6.37:g.153365046G>C	ENSP00000356194:p.Cys36Trp		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.C36W	ENST00000367225.2	37	c.108	CCDS5244.1	6	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894974	0.52121	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.53857	0.6;0.6	5.29	2.53	0.30540	.	0.469863	0.28067	N	0.016727	T	0.61874	0.2382	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.64419	-0.6412	10	0.51188	T	0.08	0.23	10.3089	0.43697	0.2157:0.0:0.7843:0.0	.	36	Q9UGC6	RGS17_HUMAN	W	36	ENSP00000356194:C36W;ENSP00000206262:C36W	ENSP00000206262:C36W	C	-	3	2	RGS17	153406739	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.762000	0.38451	0.229000	0.21039	0.460000	0.39030	TGC	RGS17	-	NULL	ENSG00000091844		0.507	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS17	HGNC	protein_coding	OTTHUMT00000042773.2	-	0	35	0	G			153365046	-1	tier1	-	no_errors	ENST00000206262	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	C	C	153365046	G	C	153365046	3	2	38	1	0	0	0	0	1	0	0	0	13344	1311	46	5	540	5	RGS17	6	153365046	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	8208068	153365046	17750021	72	9215											
IGF2R	3482	genome.wustl.edu	37	chr6	160494796	160494796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctacttaacagaccgaatGttccgtgaggaatggaagct	12	10	10	9	2	0	2	0	1	0	1	2	5	2	4	3	2	3	2	3	2	5	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:160494796G>A	ENST00000356956.1	+	35	5103	c.4955G>A	c.(4954-4956)tGt>tAt	p.C1652Y		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1652					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CAGACCGAATGTTCCGTGAGG	0.403																																																	0													151	131	138					6																	160494796		2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4955G>A	6.37:g.160494796G>A	ENSP00000349437:p.Cys1652Tyr		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.C1652Y	ENST00000356956.1	37	c.4955	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732621	0.69189	.	.	ENSG00000197081	ENST00000356956	T	0.39406	1.08	5.7	5.7	0.88788	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76666	-0.2875	10	0.87932	D	0	-22.3109	19.8351	0.96655	0.0:0.0:1.0:0.0	.	1652	P11717	MPRI_HUMAN	Y	1652	ENSP00000349437:C1652Y	ENSP00000349437:C1652Y	C	+	2	0	IGF2R	160414786	1.000000	0.71417	0.008000	0.14137	0.560000	0.35617	8.645000	0.91049	2.687000	0.91594	0.655000	0.94253	TGT	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.403	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	28	0	G	NM_000876		160494796	1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.757	A	A	160494796	G	A	160494796	3	1	38	1	0	0	0	0	1	0	0	0	7603	1377	48	3	5093	3	IGF2R	6	160494796	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	7129750	160494796	10620271	73	9216											
THBS2	7058	genome.wustl.edu	37	chr6	169648945	169648945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgggatgtagtcaaagCgcacgaagcggtaagccggc	10	5	16	10	5	1	0	1	0	0	0	1	2	1	1	2	4	3	3	2	4	4	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr6:169648945C>T	ENST00000366787.3	-	4	425	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	59	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R59H(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTAGTCAAAGCGCACGAAGCG	0.592																																					Esophageal Squamous(91;219 1934 18562 44706)												1	Substitution - Missense(1)	large_intestine(1)											126	104	111					6																	169648945		2203	4300	6503	SO:0001583	missense	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.176G>A	6.37:g.169648945C>T	ENSP00000355751:p.Arg59His		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R59H	ENST00000366787.3	37	c.176	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173667	0.78452	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T;T	0.02258	4.37;4.37	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.37530	U	0.002054	T	0.07413	0.0187	M	0.72894	2.215	0.51012	D	0.999903	D	0.89917	1.0	D	0.87578	0.998	T	0.21008	-1.0258	10	0.49607	T	0.09	-51.1463	17.4031	0.87466	0.0:1.0:0.0:0.0	.	59	P35442	TSP2_HUMAN	H	59	ENSP00000355751:R59H;ENSP00000398928:R59H	ENSP00000355751:R59H	R	-	2	0	THBS2	169390870	1.000000	0.71417	0.405000	0.26409	0.389000	0.30415	7.304000	0.78882	2.180000	0.69256	0.462000	0.41574	CGC	THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000186340		0.592	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0	49	0	C	NM_003247		169648945	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	T	T	169648945	C	T	169648945	3	4	38	1	0	0	0	0	1	0	0	0	15901	768	27	1	3422	1	THBS2	6	169648945	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	9154149	169648945	1466122	74	9217											
STYXL1	51657	genome.wustl.edu	37	chr7	75659797	75659798	+	Frame_Shift_Ins	INS	-	-	A																															gttttgtggcctgattcaggINSatgttgtaaagctctgttgg																										TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr7:75659797_75659798insA	ENST00000248600.1	-	2	386_387	c.44_45insT	c.(43-45)atcfs	p.I15fs	STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000359697.3_Frame_Shift_Ins_p.I15fs|STYXL1_ENST00000451157.1_Frame_Shift_Ins_p.I15fs|STYXL1_ENST00000360591.3_Frame_Shift_Ins_p.I15fs|STYXL1_ENST00000431581.1_Frame_Shift_Ins_p.I15fs|STYXL1_ENST00000340062.5_Frame_Shift_Ins_p.I15fs	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	15					intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CCTGATTCAGGATGTTGTAAAG	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	18165	protein-coding gene	gene with protein product			"dual specificity phosphatase 24 (putative)"	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.45dupT	7.37:g.75659798_75659798dupA	ENSP00000248600:p.Ile15fs		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Frame_Shift_Ins	INS	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	p.L16fs	ENST00000248600.1	37	c.45_44	CCDS5580.1	7																																																																																			STYXL1	-	superfamily_Rhodanese-like_dom	ENSG00000127952		0.411	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1		0	63	0	-	NM_016086		75659798	-1	tier1		no_errors	ENST00000248600	ensembl	human	known	74_37	frame_shift_ins	35.00	78	42	INS	1.000:1.000	A	A	75659798	-	A	75659797	7	5	38	1	0	1	1	0	0	0	0	0	15408	1164	41	0	928	0	STYXL1	7	75659797	Frame_Shift_Ins	INS	-	TCGA-JY-A6FE-01A-11D-A33E-09		75659797	83478866	75	9218											
CD36	948	genome.wustl.edu	37	chr7	80302143	80302143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtcaacctattggtcaagCcatcagaaaaaattcagtga	16	9	8	8	0	4	2	4	1	0	1	4	2	4	2	2	2	2	0	2	2	6	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr7:80302143C>A	ENST00000435819.1	+	15	1867	c.1183C>A	c.(1183-1185)Cca>Aca	p.P395T	CD36_ENST00000433696.2_Missense_Mutation_p.P356T|CD36_ENST00000447544.2_Missense_Mutation_p.P395T|CD36_ENST00000538969.1_Missense_Mutation_p.P335T|CD36_ENST00000432207.1_Missense_Mutation_p.P395T|CD36_ENST00000309881.7_Missense_Mutation_p.P395T|CD36_ENST00000394788.3_Missense_Mutation_p.P395T|CD36_ENST00000534394.1_Missense_Mutation_p.P319T|CD36_ENST00000544133.1_3'UTR			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	395					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						ATTGGTCAAGCCATCAGAAAA	0.313																																																	0													63	63	63					7																	80302143		2201	4297	6498	SO:0001583	missense	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1183C>A	7.37:g.80302143C>A	ENSP00000399421:p.Pro395Thr		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Missense_Mutation	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.P395T	ENST00000435819.1	37	c.1183	CCDS34673.1	7	.	.	.	.	.	.	.	.	.	.	C	19.28	3.798056	0.70567	.	.	ENSG00000135218	ENST00000435819;ENST00000309881;ENST00000534394;ENST00000394788;ENST00000447544;ENST00000432207;ENST00000419819;ENST00000538969;ENST00000433696	T;T;T;T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.21	5.21	0.72293	.	0.155704	0.64402	D	0.000020	D	0.86871	0.6037	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88533	0.3104	9	.	.	.	-22.4231	18.7286	0.91724	0.0:1.0:0.0:0.0	.	395	P16671	CD36_HUMAN	T	395;395;319;395;395;395;395;335;356	ENSP00000399421:P395T;ENSP00000308165:P395T;ENSP00000431296:P319T;ENSP00000378268:P395T;ENSP00000415743:P395T;ENSP00000411411:P395T;ENSP00000392298:P395T;ENSP00000439543:P335T;ENSP00000401863:P356T	.	P	+	1	0	CD36	80140079	0.978000	0.34361	1.000000	0.80357	0.737000	0.42083	3.358000	0.52284	2.569000	0.86673	0.591000	0.81541	CCA	CD36	-	pfam_CD36	ENSG00000135218		0.313	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	-	0	66	0	C	NM_001001547		80302143	1	tier1	-	no_errors	ENST00000309881	ensembl	human	known	74_37	missense	53.77	48	57	SNP	1.000	A	A	80302143	C	A	80302143	3	1	38	1	0	0	0	0	1	0	0	0	3014	739	26	3	1221	3	CD36	7	80302143	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	4642346	80302143	78836520	76	9219											
PCLO	27445	genome.wustl.edu	37	chr7	82585187	82585187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccaattctggctcttcGtcaaaatacaaacttgtttt	11	17	4	9	1	3	0	1	0	2	0	5	0	4	0	1	1	2	2	1	1	5	7	rs367988765		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr7:82585187G>A	ENST00000333891.9	-	5	5419	c.5082C>T	c.(5080-5082)gaC>gaT	p.D1694D	PCLO_ENST00000423517.2_Silent_p.D1694D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.D1694D(2)|p.D1625D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGCTCTTCGTCAAAATACA	0.438																																																	3	Substitution - coding silent(3)	endometrium(3)						A	,	1,3719		0,1,1859	92	84	87		5082,5082	0.4	1	7		87	0,8190		0,0,4095	no	coding-synonymous,coding-synonymous	PCLO	NM_014510.2,NM_033026.5	,	0,1,5954	AA,AG,GG		0.0,0.0269,0.0084	,	1694/4936,1694/5143	82585187	1,11909	1860	4095	5955	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5082C>T	7.37:g.82585187G>A				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.D1694	ENST00000333891.9	37	c.5082	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	25	0	G	NM_014510		82585187	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	34.88	28	15	SNP	0.995	A	A	82585187	G	A	82585187	2	1	38	1	0	0	0	0	0	0	0	1	11622	1136	40	1		1	PCLO	7	82585187	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2283044	82585187	76553476	77	9220											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121679506	121679506	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctacattttcttttgcAgagaaaatgtgatcagtact	13	15	6	7	0	3	2	1	1	2	1	3	3	3	2	0	0	3	2	0	0	4	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr7:121679506A>C	ENST00000393386.2	+	20	5913		c.e20-1		PTPRZ1_ENST00000449182.1_Splice_Site	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTCTTTTGCAGAGAAAATGT	0.428																																																	0													81	80	80					7																	121679506		2203	4300	6503	SO:0001630	splice_region_variant	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5503-1A>C	7.37:g.121679506A>C			A4D0W5|C9JFM0|O76043|Q9UDR6	Splice_Site	SNP	-	e20-2	ENST00000393386.2	37	c.5503-2	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414254	0.83449	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3015	0.82820	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRZ1	121466742	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.287000	0.95975	2.239000	0.73571	0.533000	0.62120	.	PTPRZ1	-	-	ENSG00000106278		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	22	0	A	NM_002851	Intron	121679506	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	splice_site	33.33	34	17	SNP	1.000	C	C	121679506	A	C	121679506	5	2	38	1	0	0	0	0	0	0	1	0	12859	202	7	4	5579	4	PTPRZ1	7	121679506	Splice_Site	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	39094319	121679506	37459157	78	9221											
KIAA1549	57670	genome.wustl.edu	37	chr7	138603427	138603427	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatctgtctgcacttgtggcCcaaacctcctctggaggctg	6	12	10	13	0	3	0	0	0	3	0	4	1	4	1	3	3	2	2	3	3	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr7:138603427C>T	ENST00000422774.1	-	2	993	c.945G>A	c.(943-945)tgG>tgA	p.W315*	KIAA1549_ENST00000440172.1_Nonsense_Mutation_p.W315*|KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.W265*			Q9HCM3	K1549_HUMAN	KIAA1549	315						integral component of membrane (GO:0016021)		p.W315C(1)|p.W265C(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACTTGTGGCCCAAACCTCCT	0.522			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	2	Substitution - Missense(2)	lung(2)											93	100	97					7																	138603427		2034	4185	6219	SO:0001587	stop_gained	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.945G>A	7.37:g.138603427C>T	ENSP00000416040:p.Trp315*		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Nonsense_Mutation	SNP	NULL	p.W315*	ENST00000422774.1	37	c.945	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.254215	0.97417	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	4.19	4.19	0.49359	.	2.428320	0.02548	N	0.095322	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	7.1359	0.25527	0.0:0.8751:0.0:0.1249	.	.	.	.	X	315;265;315	.	ENSP00000242365:W265X	W	-	3	0	KIAA1549	138253967	0.006000	0.16342	0.014000	0.15608	0.628000	0.37860	1.210000	0.32370	2.172000	0.68678	0.561000	0.74099	TGG	KIAA1549	-	NULL	ENSG00000122778		0.522	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1		0	28	0	C			138603427	-1			no_errors	ENST00000422774	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.030	T	T	138603427	C	T	138603427	4	4	38	1	0	0	0	0	0	1	0	0	8271	624	22	3	4983	3	KIAA1549	7	138603427	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	16923921	138603427	20535236	79	9222											
EPHB6	2051	genome.wustl.edu	37	chr7	142562397	142562398	+	Frame_Shift_Ins	INS	-	-	C																															gggggccaggcaggaggcagINScccccccaggctgcactgca																								rs145544148		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr7:142562397_142562398insC	ENST00000392957.2	+	7	1626_1627	c.839_840insC	c.(838-843)agccccfs	p.SP280fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.SP280fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	280	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCAGGAGGCAGCCCCCCCAGGC	0.688																																																	0																																										SO:0001589	frameshift_variant	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.846dupC	7.37:g.142562404_142562404dupC	ENSP00000376684:p.Ser280fs		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R283fs	ENST00000392957.2	37	c.839_840	CCDS5873.2	7																																																																																			EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000106123		0.688	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1		0	24	0	-			142562398	1	tier1		no_errors	ENST00000392957	ensembl	human	known	74_37	frame_shift_ins	5.26	36	2	INS	0.980:0.997	C	C	142562398	-	C	142562397	7	5	38	1	0	1	1	0	0	0	0	0	5194	971	34	0	849	0	EPHB6	7	142562397	Frame_Shift_Ins	INS	-	TCGA-JY-A6FE-01A-11D-A33E-09	3958970	142562397	16576266	80	9223											
ABP1	26	genome.wustl.edu	37	chr7	150555061	150555061	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgccacggcactcgcctGcacacccacctgattggcaa	8	6	9	18	3	0	1	0	1	0	0	1	1	0	1	4	2	2	3	4	2	1	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr7:150555061G>T	ENST00000493429.1	+	4	2087	c.1503G>T	c.(1501-1503)ctG>ctT	p.L501L	AOC1_ENST00000360937.4_Silent_p.L501L|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Silent_p.L501L|AOC1_ENST00000416793.2_Silent_p.L501L			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	501					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GCACTCGCCTGCACACCCACC	0.597																																																	0													57	63	61					7																	150555061		2177	4265	6442	SO:0001819	synonymous_variant	0			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1503G>T	7.37:g.150555061G>T			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L501	ENST00000493429.1	37	c.1503	CCDS43679.1	7																																																																																			AOC1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000002726		0.597	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	HGNC	protein_coding	OTTHUMT00000350628.1	-	0	55	0	G	NM_001091		150555061	1	tier1	-	no_errors	ENST00000416793	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.952	T	T	150555061	G	T	150555061	2	4	38	1	0	0	0	0	0	0	0	1	98	1306	46	3		3	ABP1	7	150555061	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	7992664	150555061	8583602	81	9224											
WRN	7486	genome.wustl.edu	37	chr8	30922442	30922442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgttacagtttttccccagGgattaaaaatgttgcttgaa	12	15	8	6	0	0	1	0	1	0	0	1	2	1	2	2	1	2	4	2	1	5	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr8:30922442G>A	ENST00000298139.5	+	5	616	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	123	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTTCCCCAGGGATTAAAAAT	0.323			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													63	69	67					8																	30922442		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.367G>A	8.37:g.30922442G>A	ENSP00000298139:p.Gly123Arg		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.G123R	ENST00000298139.5	37	c.367	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559684	0.86335	.	.	ENSG00000165392	ENST00000298139	T	0.63913	-0.07	5.82	5.82	0.92795	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.76004	0.3927	L	0.47716	1.5	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.76713	-0.2858	10	0.87932	D	0	-27.6826	19.6831	0.95971	0.0:0.0:1.0:0.0	.	123	Q14191	WRN_HUMAN	R	123	ENSP00000298139:G123R	ENSP00000298139:G123R	G	+	1	0	WRN	31041984	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.537000	0.82033	2.739000	0.93911	0.655000	0.94253	GGA	WRN	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000165392		0.323	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	78	0	G			30922442	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	48.48	34	32	SNP	1.000	A	A	30922442	G	A	30922442	3	1	38	1	0	0	0	0	1	0	0	0	17451	1233	43	3	381	3	WRN	8	30922442	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		30922442	115441580	82	9225											
TACC1	6867	genome.wustl.edu	37	chr8	38677795	38677795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggaagcttggcaggaaaCtgggtagcacactgactccc	12	6	12	11	0	0	1	0	1	0	0	1	3	1	3	1	4	3	4	1	4	4	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr8:38677795C>G	ENST00000317827.4	+	3	1412	c.1033C>G	c.(1033-1035)Ctg>Gtg	p.L345V	TACC1_ENST00000520973.1_Missense_Mutation_p.L150V|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.L150V|TACC1_ENST00000520340.1_Missense_Mutation_p.L309V|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000443286.2_Missense_Mutation_p.L361V|TACC1_ENST00000379931.3_Missense_Mutation_p.L345V|TACC1_ENST00000518415.1_Missense_Mutation_p.L300V|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.L150V	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	345	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGGCAGGAAACTGGGTAGCAC	0.507																																																	0													91	96	95					8																	38677795		2203	4300	6503	SO:0001583	missense	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1033C>G	8.37:g.38677795C>G	ENSP00000321703:p.Leu345Val		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.L345V	ENST00000317827.4	37	c.1033	CCDS6109.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.287|9.287	1.049526|1.049526	0.19827|0.19827	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973|ENST00000521866	T;T;T;T;T;T;T;T|.	0.10192|.	2.96;2.94;3.08;3.08;2.9;3.1;3.11;2.92|.	5.27|5.27	2.35|2.35	0.29111|0.29111	.|.	0.761266|.	0.12106|.	N|.	0.499050|.	T|T	0.39682|0.39682	0.1087|0.1087	L|L	0.52364|0.52364	1.645|1.645	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B;B|.	0.27823|.	0.128;0.105;0.19;0.03;0.053;0.03;0.104;0.051|.	B;B;B;B;B;B;B;B|.	0.29267|.	0.1;0.053;0.058;0.022;0.039;0.038;0.036;0.068|.	T|T	0.25012|0.25012	-1.0144|-1.0144	10|5	0.34782|.	T|.	0.22|.	1.8417|1.8417	6.009|6.009	0.19565|0.19565	0.152:0.6863:0.0:0.1617|0.152:0.6863:0.0:0.1617	.|.	150;150;150;361;345;345;150;300|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.|.	V|K	150;150;150;361;300;317;345;345;150|119	ENSP00000428687:L150V;ENSP00000428450:L150V;ENSP00000393647:L361V;ENSP00000428706:L300V;ENSP00000430355:L317V;ENSP00000321703:L345V;ENSP00000369263:L345V;ENSP00000430959:L150V|.	ENSP00000321703:L345V|.	L|N	+|+	1|3	2|2	TACC1|TACC1	38796952|38796952	0.070000|0.070000	0.21116|0.21116	0.800000|0.800000	0.32199|0.32199	0.375000|0.375000	0.29983|0.29983	1.304000|1.304000	0.33482|0.33482	1.209000|1.209000	0.43321|0.43321	-0.251000|-0.251000	0.11542|0.11542	CTG|AAC	TACC1	-	NULL	ENSG00000147526		0.507	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	-	0	53	0	C	NM_006283		38677795	1	tier1	-	no_errors	ENST00000379931	ensembl	human	known	74_37	missense	31.63	67	31	SNP	0.606	G	G	38677795	C	G	38677795	3	3	38	1	0	0	0	0	1	0	0	0	15548	564	20	5	1043	5	TACC1	8	38677795	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	7755353	38677795	107686227	83	9226											
ADAM18	8749	genome.wustl.edu	37	chr8	39506020	39506020	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggattttggaatccaatGaagaatgtgactgtggtaat	13	13	12	3	0	0	3	0	2	0	1	1	5	1	5	1	3	0	1	1	3	5	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr8:39506020G>T	ENST00000265707.5	+	12	1249	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	ADAM18_ENST00000379866.1_Nonsense_Mutation_p.E378*|ADAM18_ENST00000541111.1_Intron	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	402	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGAATCCAATGAAGAATGTGA	0.323																																																	0													69	71	70					8																	39506020		2203	4300	6503	SO:0001587	stop_gained	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1204G>T	8.37:g.39506020G>T	ENSP00000265707:p.Glu402*		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.E402*	ENST00000265707.5	37	c.1204	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.562797	0.98361	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	.	.	.	5.55	5.55	0.83447	.	0.000000	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.8661	0.70416	0.0:0.0:1.0:0.0	.	.	.	.	X	402;378;334	.	ENSP00000265707:E402X	E	+	1	0	ADAM18	39625177	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	4.255000	0.58804	2.890000	0.99128	0.585000	0.79938	GAA	ADAM18	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000168619		0.323	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0	52	0	G	NM_014237		39506020	1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	0.998	T	T	39506020	G	T	39506020	4	4	38	1	0	0	0	0	0	1	0	0	239	1291	45	3	1250	3	ADAM18	8	39506020	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	828225	39506020	106858002	84	9227											
MOS	4342	genome.wustl.edu	37	chr8	57025930	57025930	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgatcaagatgttcgcGggcttcaggtccaagtgcac	9	10	11	11	2	3	2	3	1	0	1	5	2	4	2	1	2	1	3	1	2	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr8:57025930G>T	ENST00000311923.1	-	1	611	c.612C>A	c.(610-612)ccC>ccA	p.P204P		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AGATGTTCGCGGGCTTCAGGT	0.483																																					Esophageal Squamous(124;373 2870 4778)												0													60	57	58					8																	57025930		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.612C>A	8.37:g.57025930G>T			Q3KPG9|Q3KPH0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P204	ENST00000311923.1	37	c.612	CCDS6164.1	8																																																																																			MOS	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000172680		0.483	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOS	HGNC	protein_coding	OTTHUMT00000378174.1		0	17	0	G	NM_005372		57025930	-1			no_errors	ENST00000311923	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.002	T	T	57025930	G	T	57025930	2	4	38	1	0	0	0	0	0	0	0	1	9750	1103	39	2		2	MOS	8	57025930	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	17519910	57025930	89338092	85	9228											
TSTA3	7264	genome.wustl.edu	37	chr8	144696991	144696991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggtaggtcgtcttgtcaGggaagatacaggtggacagg	9	9	17	6	2	2	1	1	0	1	1	4	3	2	3	0	6	1	1	0	6	3	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr8:144696991G>T	ENST00000425753.2	-	4	459	c.356C>A	c.(355-357)cCt>cAt	p.P119H	TSTA3_ENST00000529064.1_Missense_Mutation_p.P119H	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	119					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGTCTTGTCAGGGAAGATACA	0.637																																																	0													103	89	94					8																	144696991		2203	4300	6503	SO:0001583	missense	0			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	12390	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 4E, member 1", "GDP-L-fucose synthase"	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.356C>A	8.37:g.144696991G>T	ENSP00000398803:p.Pro119His		B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.P119H	ENST00000425753.2	37	c.356	CCDS6408.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784027	0.90282	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.85	4.85	0.62838	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99833	1.1055	10	0.87932	D	0	-11.2838	16.5412	0.84385	0.0:0.0:1.0:0.0	.	119;119	B4DZW9;Q13630	.;FCL_HUMAN	H	119	ENSP00000435386:P119H;ENSP00000398803:P119H;ENSP00000431587:P119H;ENSP00000437012:P119H	ENSP00000398803:P119H	P	-	2	0	TSTA3	144768134	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	6.280000	0.72626	2.235000	0.73313	0.467000	0.42956	CCT	TSTA3	-	pfam_Epimerase_deHydtase	ENSG00000104522		0.637	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	HGNC	protein_coding	OTTHUMT00000382263.1		0	42	0	G	NM_003313		144696991	-1			no_errors	ENST00000425753	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	T	T	144696991	G	T	144696991	3	4	38	1	0	0	0	0	1	0	0	0	16722	1000	35	3	641	3	TSTA3	8	144696991	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	87671061	144696991	1667031	86	9229											
DMRTA1	63951	genome.wustl.edu	37	chr9	22451252	22451252	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcctggagagcaatCaggaggtgaagagagtccca	12	7	12	10	0	2	3	2	1	0	2	5	6	5	4	3	3	1	1	3	3	2	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr9:22451252C>A	ENST00000325870.2	+	2	1082	c.857C>A	c.(856-858)tCa>tAa	p.S286*		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	286					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGAGAGCAATCAGGAGGTGAA	0.458																																																	0													71	67	68					9																	22451252		2203	4300	6503	SO:0001587	stop_gained	0			AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.857C>A	9.37:g.22451252C>A	ENSP00000319651:p.Ser286*		A1L481|Q8N8Y9|Q9H4B9	Nonsense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S286*	ENST00000325870.2	37	c.857	CCDS6514.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.712073	0.97780	.	.	ENSG00000176399	ENST00000325870	.	.	.	5.87	5.87	0.94306	.	0.307941	0.32231	N	0.006383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1406	13.3498	0.60595	0.0:0.9242:0.0:0.0758	.	.	.	.	X	286	.	ENSP00000319651:S286X	S	+	2	0	DMRTA1	22441252	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	3.637000	0.54324	2.941000	0.99782	0.655000	0.94253	TCA	DMRTA1	-	NULL	ENSG00000176399		0.458	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTA1	HGNC	protein_coding	OTTHUMT00000051935.2		0	25	0	C			22451252	1			no_errors	ENST00000325870	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	A	A	22451252	C	A	22451252	4	1	38	1	0	0	0	0	0	1	0	0	4602	838	29	3	863	3	DMRTA1	9	22451252	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09		22451252	118762179	87	9230											
B4GALT1	2683	genome.wustl.edu	37	chr9	33113550	33113550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagttcaaaccatcagagaGcattgtctcctttgtgtgtg	9	14	10	8	0	3	2	2	1	1	1	4	3	3	2	2	0	2	2	2	0	1	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr9:33113550G>T	ENST00000379731.4	-	6	1285	c.1099C>A	c.(1099-1101)Ctc>Atc	p.L367I	B4GALT1_ENST00000541851.1_Missense_Mutation_p.L114I|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	367					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CCATCAGAGAGCATTGTCTCC	0.438																																																	0													166	142	150					9																	33113550		2203	4300	6503	SO:0001583	missense	0			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.1099C>A	9.37:g.33113550G>T	ENSP00000369055:p.Leu367Ile		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.L367I	ENST00000379731.4	37	c.1099	CCDS6535.1	9	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921165	0.33908	.	.	ENSG00000086062	ENST00000379731;ENST00000541701;ENST00000541851	T;T	0.35421	1.31;1.31	6.08	1.42	0.22433	.	0.817760	0.11455	N	0.562380	T	0.21881	0.0527	L	0.34521	1.04	0.09310	N	0.999998	B	0.02656	0.0	B	0.08055	0.003	T	0.25710	-1.0124	10	0.42905	T	0.14	-15.1832	0.725	0.00947	0.3138:0.1312:0.3636:0.1914	.	367	P15291	B4GT1_HUMAN	I	367;324;114	ENSP00000369055:L367I;ENSP00000445037:L114I	ENSP00000369055:L367I	L	-	1	0	B4GALT1	33103550	0.002000	0.14202	0.399000	0.26333	0.996000	0.88848	-0.082000	0.11304	0.328000	0.23435	0.655000	0.94253	CTC	B4GALT1	-	pfam_Galactosyl_T_C	ENSG00000086062		0.438	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT1	HGNC	protein_coding	OTTHUMT00000052039.1	-	0	47	0	G	NM_001497		33113550	-1	tier1	-	no_errors	ENST00000379731	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.029	T	T	33113550	G	T	33113550	3	4	38	1	0	0	0	0	1	0	0	0	1271	971	34	3	101	3	B4GALT1	9	33113550	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	10662298	33113550	108099881	88	9231											
LHX6	26468	genome.wustl.edu	37	chr9	124967012	124967012	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagctgtggggcgcccaCgggcagatgcggaagtgccg	6	4	20	11	4	0	1	0	0	0	1	0	2	0	2	2	5	3	3	2	5	1	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr9:124967012C>T	ENST00000373755.2	-	0	1227				LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000373754.2_Missense_Mutation_p.V339M|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000340587.3_Missense_Mutation_p.V368M|LHX6_ENST00000464484.2_Missense_Mutation_p.V26M|LHX6_ENST00000541397.2_Missense_Mutation_p.V357M|LHX6_ENST00000482062.1_3'UTR	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						GGGGCGCCCACGGGCAGATGC	0.677																																																	0													24	28	27					9																	124967012		2203	4298	6501	SO:0001624	3_prime_UTR_variant	0			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.*27G>A	9.37:g.124967012C>T			A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.V368M	ENST00000373755.2	37	c.1102	CCDS56583.1	9	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151561	0.21371	.	.	ENSG00000106852	ENST00000373754;ENST00000340587;ENST00000541397	D;D;D	0.87256	-2.23;-2.09;-2.14	5.52	-0.963	0.10330	.	.	.	.	.	T	0.79678	0.4487	.	.	.	0.18873	N	0.999982	B	0.12013	0.005	B	0.10450	0.005	T	0.62015	-0.6943	8	0.33141	T	0.24	.	12.7188	0.57129	0.0:0.5542:0.0:0.4458	.	368	Q9UPM6-4	.	M	339;368;357	ENSP00000362859:V339M;ENSP00000340137:V368M;ENSP00000441464:V357M	ENSP00000340137:V368M	V	-	1	0	LHX6	124006833	0.452000	0.25713	0.773000	0.31616	0.840000	0.47671	-0.419000	0.07071	-0.430000	0.07318	0.655000	0.94253	GTG	LHX6	-	NULL	ENSG00000106852		0.677	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2		0	75	0	C	NM_014368		124967012	-1			no_errors	ENST00000340587	ensembl	human	known	74_37	missense	5.43	87	5	SNP	0.990	T	T	124967012	C	T	124967012	1	4	38	0	1	0	0	0	0	0	0	0	8804	536	19	1		1	LHX6	9	124967012	3'UTR	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	91853462	124967012	16246419	89	9232											
OR5C1	392391	genome.wustl.edu	37	chr9	125552143	125552143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaggcagacctggagccGattccactgtccagggcagg	8	6	13	14	1	1	1	1	0	0	1	3	3	3	2	5	4	1	2	5	4	0	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr9:125552143G>A	ENST00000373680.2	+	1	994	c.932G>A	c.(931-933)cGa>cAa	p.R311Q		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACCTGGAGCCGATTCCACTGT	0.602																																																	0													55	48	51					9																	125552143		2203	4300	6503	SO:0001583	missense	0			AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"GPCR / Class A : Olfactory receptors"	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.932G>A	9.37:g.125552143G>A	ENSP00000362784:p.Arg311Gln		B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R311Q	ENST00000373680.2	37	c.932	CCDS35131.1	9	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172902	0.57584	.	.	ENSG00000148215	ENST00000373680	T	0.39056	1.1	5.22	2.34	0.29019	.	0.000000	0.29822	U	0.011104	T	0.30324	0.0761	L	0.39326	1.205	0.09310	N	0.999997	B	0.20052	0.041	B	0.08055	0.003	T	0.25047	-1.0143	10	0.72032	D	0.01	.	6.9559	0.24570	0.2929:0.0:0.7071:0.0	.	311	Q8NGR4	OR5C1_HUMAN	Q	311	ENSP00000362784:R311Q	ENSP00000362784:R311Q	R	+	2	0	OR5C1	124591964	0.004000	0.15560	0.026000	0.17262	0.005000	0.04900	1.257000	0.32932	0.337000	0.23665	-0.136000	0.14681	CGA	OR5C1	-	NULL	ENSG00000148215		0.602	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5C1	HGNC	protein_coding	OTTHUMT00000053953.1	-	0	27	0	G			125552143	1	tier1	-	no_errors	ENST00000373680	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.247	A	A	125552143	G	A	125552143	3	1	38	1	0	0	0	0	1	0	0	0	11192	1058	37	1	934	1	OR5C1	9	125552143	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	585131	125552143	15661288	90	9233											
CAMSAP1	157922	genome.wustl.edu	37	chr9	138719368	138719368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggctgcctaggaaactgcGtttggtcgcgttggagatcg	7	10	16	8	4	0	1	0	0	0	1	2	3	0	2	1	4	3	3	1	4	2	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr9:138719368G>A	ENST00000389532.4	-	8	1172	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.R92C|CAMSAP1_ENST00000483991.1_5'Flank|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.R381C	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	370					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGGAAACTGCGTTTGGTCGCG	0.592																																																	0													94	72	80					9																	138719368		2203	4300	6503	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1108C>T	9.37:g.138719368G>A	ENSP00000374183:p.Arg370Cys		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.R381C	ENST00000389532.4	37	c.1141	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361627	0.82353	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.21191	2.13;2.02;2.1	5.11	4.22	0.49857	.	0.061353	0.64402	D	0.000002	T	0.45438	0.1342	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.944;0.983	T	0.46762	-0.9168	10	0.87932	D	0	-32.5522	10.1645	0.42871	0.0725:0.0:0.7921:0.1354	.	370;381	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	C	370;92;381	ENSP00000374183:R370C;ENSP00000312463:R92C;ENSP00000386420:R381C	ENSP00000312463:R92C	R	-	1	0	CAMSAP1	137859189	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	7.354000	0.79424	1.161000	0.42604	0.655000	0.94253	CGC	CAMSAP1	-	NULL	ENSG00000130559		0.592	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	-	0	42	0	G	XM_351857		138719368	-1	tier1	-	no_errors	ENST00000409386	ensembl	human	known	74_37	missense	42.31	45	33	SNP	1.000	A	A	138719368	G	A	138719368	3	1	38	1	0	0	0	0	1	0	0	0	2618	1145	40	1	3740	1	CAMSAP1	9	138719368	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	13167225	138719368	2494063	91	9234											
USP6NL	9712	genome.wustl.edu	37	chr10	11505102	11505102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatcgtgcatgacttggagGctgtactttaaaagtaaact	13	13	9	6	1	0	1	0	1	0	0	1	2	0	2	0	2	3	4	0	2	6	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr10:11505102G>T	ENST00000609104.1	-	15	2219	c.1825C>A	c.(1825-1827)Cct>Act	p.P609T	USP6NL_ENST00000379237.2_Missense_Mutation_p.P632T|USP6NL_ENST00000277575.5_Missense_Mutation_p.P626T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	609					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGACTTGGAGGCTGTACTTTA	0.542																																																	0													66	65	65					10																	11505102		1950	4146	6096	SO:0001583	missense	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1825C>A	10.37:g.11505102G>T	ENSP00000476462:p.Pro609Thr		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P632T	ENST00000609104.1	37	c.1894	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	5.932	0.355924	0.11239	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04970	3.52;3.53	5.78	3.92	0.45320	.	0.256098	0.34906	N	0.003582	T	0.08223	0.0205	L	0.56769	1.78	0.25105	N	0.990757	B;B	0.28350	0.067;0.208	B;B	0.30029	0.025;0.11	T	0.22765	-1.0207	10	0.36615	T	0.2	.	9.0181	0.36182	0.1188:0.0:0.6596:0.2216	.	609;626	Q92738;Q92738-2	US6NL_HUMAN;.	T	609;626;609	ENSP00000277575:P626T;ENSP00000368539:P609T	ENSP00000277575:P626T	P	-	1	0	USP6NL	11545108	1.000000	0.71417	0.966000	0.40874	0.002000	0.02628	1.720000	0.38022	0.363000	0.24346	-1.357000	0.01221	CCT	USP6NL	-	NULL	ENSG00000148429		0.542	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	-	0	94	0	G	NM_014688		11505102	-1	tier1	-	no_errors	ENST00000379237	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.994	T	T	11505102	G	T	11505102	3	4	38	1	0	0	0	0	1	0	0	0	17136	1203	42	3	665	3	USP6NL	10	11505102	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		11505102	124029645	92	9235											
PRPF18	8559	genome.wustl.edu	37	chr10	13672330	13672330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccaaatgtgtggagtacaAtgcactgtgagatctgtgta	12	12	11	6	0	1	1	0	1	1	1	2	3	2	2	1	1	2	3	1	1	4	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr10:13672330A>G	ENST00000378572.3	+	10	1179	c.1019A>G	c.(1018-1020)aAt>aGt	p.N340S	RP11-295P9.3_ENST00000596044.1_Missense_Mutation_p.N16S	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	340					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GTGGAGTACAATGCACTGTGA	0.398																																																	0													190	165	174					10																	13672330		2203	4300	6503	SO:0001583	missense	0			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"PRP18 pre-mRNA processing factor 18 homolog (yeast)", "PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.1019A>G	10.37:g.13672330A>G	ENSP00000367835:p.Asn340Ser		Q5T9P9|Q9BUI9	Missense_Mutation	SNP	pfam_Prp18,pfam_PRP4-like,superfamily_Prp18,smart_SFM	p.N340S	ENST00000378572.3	37	c.1019	CCDS7100.1	10	.	.	.	.	.	.	.	.	.	.	A	15.01	2.706449	0.48412	.	.	ENSG00000165630	ENST00000378572	.	.	.	5.66	5.66	0.87406	.	0.043520	0.85682	D	0.000000	T	0.42177	0.1191	N	0.22421	0.69	0.80722	D	1	B	0.27229	0.172	B	0.16289	0.015	T	0.30822	-0.9965	9	0.17832	T	0.49	-40.4128	15.8912	0.79299	1.0:0.0:0.0:0.0	.	340	Q99633	PRP18_HUMAN	S	340	.	ENSP00000367835:N340S	N	+	2	0	PRPF18	13712336	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.045000	0.89436	2.158000	0.67659	0.482000	0.46254	AAT	PRPF18	-	NULL	ENSG00000165630		0.398	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	-	0	61	0	A			13672330	1	tier1	-	no_errors	ENST00000378572	ensembl	human	known	74_37	missense	42.19	37	27	SNP	1.000	G	G	13672330	A	G	13672330	3	3	38	1	0	0	0	0	1	0	0	0	12605	101	4	4	1057	4	PRPF18	10	13672330	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	2167228	13672330	121862417	93	9236											
KIAA1217	56243	genome.wustl.edu	37	chr10	24762672	24762672	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcactgtacagacagaaAtcaaggaaatatccggatag	18	7	8	8	1	2	2	2	0	0	2	3	4	3	4	1	2	1	1	1	2	7	3	rs369181477		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr10:24762672A>G	ENST00000376454.3	+	6	1392	c.1362A>G	c.(1360-1362)aaA>aaG	p.K454K	KIAA1217_ENST00000396446.1_Silent_p.K172K|KIAA1217_ENST00000458595.1_Silent_p.K454K|KIAA1217_ENST00000376462.1_Silent_p.K374K|KIAA1217_ENST00000307544.6_Silent_p.K172K|KIAA1217_ENST00000430453.2_Silent_p.K375K|KIAA1217_ENST00000396445.1_Silent_p.K172K|KIAA1217_ENST00000376451.2_Silent_p.K172K|KIAA1217_ENST00000376452.3_Silent_p.K454K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	454					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACAGACAGAAATCAAGGAAAT	0.498																																																	0								A	,,	0,4406		0,0,2203	85	71	76		1122,1362,1362	-4.8	0	10		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	,,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,,	374/1265,454/1310,454/1944	24762672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1362A>G	10.37:g.24762672A>G			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.K454	ENST00000376454.3	37	c.1362	CCDS31165.1	10																																																																																			KIAA1217	-	NULL	ENSG00000120549		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	-	0	48	0	A	NM_019590		24762672	1	tier1	-	no_errors	ENST00000376454	ensembl	human	known	74_37	silent	40.00	6	4	SNP	0.153	G	G	24762672	A	G	24762672	2	3	38	1	0	0	0	0	0	0	0	1	8243	98	4	4		4	KIAA1217	10	24762672	Silent	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	11090342	24762672	110772075	94	9237											
GPR158	57512	genome.wustl.edu	37	chr10	25887177	25887177	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtccacggagtcggtgccGttggtgtgcaagtcagcaag	8	8	16	9	3	1	0	1	0	0	0	3	2	2	1	2	3	3	3	2	3	2	1	rs567691480	byFrequency	TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr10:25887177G>T	ENST00000376351.3	+	11	2981	c.2622G>T	c.(2620-2622)ccG>ccT	p.P874P	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	874					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGTCGGTGCCGTTGGTGTGCA	0.483																																																	0													89	92	91					10																	25887177		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2622G>T	10.37:g.25887177G>T			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.P874	ENST00000376351.3	37	c.2622	CCDS31166.1	10																																																																																			GPR158	-	NULL	ENSG00000151025		0.483	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2		0	51	0	G	XM_166110		25887177	1			no_errors	ENST00000376351	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.001	T	T	25887177	G	T	25887177	2	4	38	1	0	0	0	0	0	0	0	1	6689	1132	40	2		2	GPR158	10	25887177	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	1124505	25887177	109647570	95	9238											
PARD3	56288	genome.wustl.edu	37	chr10	34625163	34625163	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtattgagtttagtctCgtcagctactgttaaaaggt	10	15	9	7	1	2	1	1	1	1	0	3	1	2	1	0	1	2	4	0	1	5	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr10:34625163C>A	ENST00000374789.3	-	18	2903	c.2578G>T	c.(2578-2580)Gag>Tag	p.E860*	PARD3_ENST00000374776.1_Nonsense_Mutation_p.E814*|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000340077.5_Nonsense_Mutation_p.E857*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.E857*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.E800*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.E860*|PARD3_ENST00000544292.1_Nonsense_Mutation_p.E573*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.E770*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.E814*|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374773.1_Nonsense_Mutation_p.E827*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.E844*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	860	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGTTTAGTCTCGTCAGCTACT	0.413																																																	0													249	200	217					10																	34625163		2203	4300	6503	SO:0001587	stop_gained	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2578G>T	10.37:g.34625163C>A	ENSP00000363921:p.Glu860*		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E860*	ENST00000374789.3	37	c.2578	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	45	11.345933	0.99549	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	.	.	.	X	844;770;860;857;860;814;800;814;857;827;573	.	ENSP00000341844:E857X	E	-	1	0	PARD3	34665169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.092000	0.76930	2.840000	0.97914	0.655000	0.94253	GAG	PARD3	-	NULL	ENSG00000148498		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1		0	41	0	C	NM_019619		34625163	-1			no_errors	ENST00000374789	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	1.000	A	A	34625163	C	A	34625163	4	1	38	1	0	0	0	0	0	1	0	0	11482	893	31	2	1559	2	PARD3	10	34625163	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	8737986	34625163	100909584	96	9239											
MARCH8	220972	genome.wustl.edu	37	chr10	45953909	45953909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgcacatacactttacaCtgaacatacataaaaagaag	20	9	4	8	0	0	2	0	1	0	1	0	2	0	2	0	0	5	1	0	0	9	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr10:45953909C>T	ENST00000319836.3	-	7	1403	c.654G>A	c.(652-654)caG>caA	p.Q218Q	MARCH8_ENST00000395771.3_Silent_p.Q218Q|MARCH8_ENST00000453424.2_Silent_p.Q500Q|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Silent_p.Q218Q	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	218					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ACACTTTACACTGAACATACA	0.393																																					NSCLC(102;658 1594 2173 16344 34808)												0													105	106	106					10																	45953909		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.654G>A	10.37:g.45953909C>T			B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.Q218	ENST00000319836.3	37	c.654	CCDS7213.1	10	.	.	.	.	.	.	.	.	.	.	C	6.712	0.499994	0.12762	.	.	ENSG00000165406	ENST00000453424	.	.	.	5.47	2.61	0.31194	.	.	.	.	.	T	0.57036	0.2026	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48514	-0.9029	4	.	.	.	-21.7186	7.9157	0.29816	0.0:0.6745:0.0:0.3255	.	.	.	.	M	383	.	.	V	-	1	0	MARCH8	45273915	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	0.933000	0.28897	0.284000	0.22305	-0.122000	0.15005	GTG	MARCH8	-	NULL	ENSG00000165406		0.393	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH8	HGNC	protein_coding	OTTHUMT00000051217.1	-	0	46	0	C	NM_145021		45953909	-1	tier1	-	no_errors	ENST00000319836	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	45953909	C	T	45953909	2	4	38	1	0	0	0	0	0	0	0	1	9345	564	20	3		3	MARCH8	10	45953909	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	11328746	45953909	89580838	97	9240											
IPO7	10527	genome.wustl.edu	37	chr11	9459723	9459723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtttctggacagattttGccggcttttatccttttatt	6	19	8	8	1	1	1	0	0	1	1	2	2	2	2	2	3	1	2	2	3	2	8			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:9459723G>T	ENST00000379719.3	+	22	2728	c.2586G>T	c.(2584-2586)ttG>ttT	p.L862F		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	862					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GACAGATTTTGCCGGCTTTTA	0.398																																																	0													146	164	158					11																	9459723		2201	4294	6495	SO:0001583	missense	0			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2586G>T	11.37:g.9459723G>T	ENSP00000369042:p.Leu862Phe		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L862F	ENST00000379719.3	37	c.2586	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752316	0.31046	.	.	ENSG00000205339	ENST00000379719	T	0.69306	-0.39	5.36	2.13	0.27403	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.48642	1.525	0.58432	D	0.999994	D	0.56746	0.977	P	0.60345	0.873	T	0.60905	-0.7170	10	0.22706	T	0.39	.	6.0609	0.19837	0.2216:0.0:0.5653:0.2132	.	862	O95373	IPO7_HUMAN	F	862	ENSP00000369042:L862F	ENSP00000369042:L862F	L	+	3	2	IPO7	9416299	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.526000	0.35964	0.648000	0.30732	-0.237000	0.12165	TTG	IPO7	-	superfamily_ARM-type_fold	ENSG00000205339		0.398	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	HGNC	protein_coding	OTTHUMT00000386022.1		0	68	0	G	NM_006391		9459723	1			no_errors	ENST00000379719	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.997	T	T	9459723	G	T	9459723	3	4	38	1	0	0	0	0	1	0	0	0	7824	1310	46	3	2672	3	IPO7	11	9459723	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		9459723	125546793	98	9241											
QSER1	79832	genome.wustl.edu	37	chr11	32987900	32987900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaacacaagagcaatgaAggaaacctttaagagctaca	18	8	8	7	0	0	4	0	2	0	2	0	5	0	5	1	1	5	2	1	1	7	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:32987900A>G	ENST00000399302.2	+	9	4972	c.4637A>G	c.(4636-4638)aAg>aGg	p.K1546R	QSER1_ENST00000527788.1_Missense_Mutation_p.K1307R	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1546										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGAGCAATGAAGGAAACCTTT	0.418																																																	0													131	124	126					11																	32987900		1851	4093	5944	SO:0001583	missense	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4637A>G	11.37:g.32987900A>G	ENSP00000382241:p.Lys1546Arg		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.K1546R	ENST00000399302.2	37	c.4637	CCDS41631.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.0|25.0	4.590753|4.590753	0.86851|0.86851	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788|ENST00000524678	T;T|.	0.52526|.	0.66;0.66|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.58850|0.58850	0.2151|0.2151	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;0.972;1.0|.	D;P;D|.	0.91635|.	0.998;0.831;0.999|.	T|T	0.55471|0.55471	-0.8136|-0.8136	10|5	0.41790|.	T|.	0.15|.	.|.	15.7828|15.7828	0.78275|0.78275	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1307;1307;1546|.	C9JJ88;Q2KHR3-2;Q2KHR3|.	.;.;QSER1_HUMAN|.	R|G	1546;1307;1307|567	ENSP00000382241:K1546R;ENSP00000432766:K1307R|.	ENSP00000078652:K1307R|.	K|R	+|+	2|1	0|2	QSER1|QSER1	32944476|32944476	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.352000|8.352000	0.90075|0.90075	2.125000|2.125000	0.65367|0.65367	0.482000|0.482000	0.46254|0.46254	AAG|AGG	QSER1	-	NULL	ENSG00000060749		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	-	0	71	0	A	NM_024774		32987900	1	tier1	-	no_errors	ENST00000399302	ensembl	human	known	74_37	missense	25.32	59	20	SNP	1.000	G	G	32987900	A	G	32987900	3	3	38	1	0	0	0	0	1	0	0	0	12927	72	3	4	4663	4	QSER1	11	32987900	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	23528177	32987900	102018616	99	9242											
LMO2	4005	genome.wustl.edu	37	chr11	33881097	33881097	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccgcttgtcacaggatgcGcagagaccgtcttgcccaaa	10	8	10	13	3	2	1	1	0	1	1	3	3	3	2	3	1	2	2	3	1	1	2	rs377285988		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:33881097G>T	ENST00000395833.3	-	3	711	c.282C>A	c.(280-282)tgC>tgA	p.C94*	LMO2_ENST00000257818.2_Nonsense_Mutation_p.C163*	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	94	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CACAGGATGCGCAGAGACCGT	0.512			T	TRD@	T-ALL																																			Dom	yes		11	11p13	4005	LIM domain only 2 (rhombotin-like 1) (RBTN2)		L	0													78	73	74					11																	33881097		2202	4298	6500	SO:0001587	stop_gained	0			X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"T-cell translocation gene 2", "rhombotin-like 1"	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.282C>A	11.37:g.33881097G>T	ENSP00000379175:p.Cys94*		Q9HD58	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.C163*	ENST00000395833.3	37	c.489	CCDS44567.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.902137	0.97087	.	.	ENSG00000135363	ENST00000395833;ENST00000257818	.	.	.	5.38	-9.57	0.00562	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9503	0.64113	0.6686:0.0772:0.2542:0.0	.	.	.	.	X	94;163	.	ENSP00000257818:C163X	C	-	3	2	LMO2	33837673	0.000000	0.05858	0.338000	0.25549	0.003000	0.03518	-1.575000	0.02131	-1.864000	0.01148	-0.892000	0.02923	TGC	LMO2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000135363		0.512	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO2	HGNC	protein_coding	OTTHUMT00000347777.1	-	0	32	0	G	NM_005574		33881097	-1	tier1	-	no_errors	ENST00000257818	ensembl	human	known	74_37	nonsense	10.81	33	4	SNP	0.168	T	T	33881097	G	T	33881097	4	4	38	1	0	0	0	0	0	1	0	0	8882	1079	38	2	198	2	LMO2	11	33881097	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	893197	33881097	101125419	100	9243											
MTCH2	23788	genome.wustl.edu	37	chr11	47653238	47653238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgatgagggtagcagcaGaacgagcgatcatctctcga	11	8	14	8	3	2	3	1	2	1	1	4	6	2	3	0	1	4	3	0	1	2	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:47653238G>T	ENST00000302503.3	-	6	552	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	MTCH2_ENST00000534074.1_5'Flank|MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	132					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GGTAGCAGCAGAACGAGCGAT	0.433																																																	0													172	138	150					11																	47653238		2201	4298	6499	SO:0001583	missense	0			AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"Solute carriers"	17587	protein-coding gene	gene with protein product	"solute carrier family 25, member 50"	613221	"mitochondrial carrier homolog 2 (C. elegans)"				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.395C>A	11.37:g.47653238G>T	ENSP00000303222:p.Ser132Tyr		B2R7L8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S132Y	ENST00000302503.3	37	c.395	CCDS7943.1	11	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903542	0.92035	.	.	ENSG00000109919	ENST00000302503;ENST00000530428;ENST00000530558	T;T	0.79554	-1.28;-1.28	5.71	5.71	0.89125	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.89904	3.07	0.80722	D	1	P	0.37276	0.589	P	0.45610	0.487	D	0.88156	0.2854	10	0.44086	T	0.13	.	18.6391	0.91389	0.0:0.0:1.0:0.0	.	132	Q9Y6C9	MTCH2_HUMAN	Y	132;123;111	ENSP00000303222:S132Y;ENSP00000432043:S123Y	ENSP00000303222:S132Y	S	-	2	0	MTCH2	47609814	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.913000	0.87471	2.709000	0.92574	0.655000	0.94253	TCT	MTCH2	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000109919		0.433	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTCH2	HGNC	protein_coding	OTTHUMT00000391921.2	-	0	41	0	G	NM_014342		47653238	-1	tier1	-	no_errors	ENST00000302503	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	47653238	G	T	47653238	3	4	38	1	0	0	0	0	1	0	0	0	9952	942	33	3	548	3	MTCH2	11	47653238	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	13772141	47653238	87353278	101	9244											
VPS37C	55048	genome.wustl.edu	37	chr11	60899899	60899899	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttcctcaccacttccTggagcttttccacgcgaacc	6	11	8	16	2	1	0	1	0	0	0	4	2	4	1	5	2	2	2	5	2	1	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:60899899T>G	ENST00000301765.5	-	5	693	c.461A>C	c.(460-462)cAg>cCg	p.Q154P		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	154	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CACCACTTCCTGGAGCTTTTC	0.657																																																	0													11	13	12					11																	60899899		2193	4296	6489	SO:0001583	missense	0			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.461A>C	11.37:g.60899899T>G	ENSP00000301765:p.Gln154Pro		Q8N3K4	Missense_Mutation	SNP	pfam_Mod_r	p.Q154P	ENST00000301765.5	37	c.461	CCDS31573.1	11	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489248	0.84962	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.56941	0.43	4.9	4.9	0.64082	Modifier of rudimentary, Modr (1);	0.199280	0.45126	D	0.000385	T	0.72455	0.3462	M	0.80332	2.49	0.58432	D	0.999996	D	0.71674	0.998	D	0.78314	0.991	T	0.76870	-0.2799	10	0.72032	D	0.01	-20.9666	13.1078	0.59257	0.0:0.0:0.0:1.0	.	154	A5D8V6	VP37C_HUMAN	P	154	ENSP00000301765:Q154P	ENSP00000301765:Q154P	Q	-	2	0	VPS37C	60656475	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.958000	0.63660	1.840000	0.53500	0.379000	0.24179	CAG	VPS37C	-	NULL	ENSG00000167987		0.657	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	HGNC	protein_coding	OTTHUMT00000396467.1	-	0	54	0	T	NM_017966		60899899	-1	tier1	-	no_errors	ENST00000301765	ensembl	human	known	74_37	missense	10.00	54	6	SNP	1.000	G	G	60899899	T	G	60899899	3	3	38	1	0	0	0	0	1	0	0	0	17256	1580	55	4	610	4	VPS37C	11	60899899	Missense_Mutation	SNP	T	TCGA-JY-A6FE-01A-11D-A33E-09	13246661	60899899	74106617	102	9245											
NPAS4	266743	genome.wustl.edu	37	chr11	66190289	66190289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtgttcacagctttctGtgcccctctggagccgagac	5	11	10	15	2	3	1	1	0	2	1	4	3	4	2	4	1	3	2	4	1	0	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:66190289G>C	ENST00000311034.2	+	4	751	c.575G>C	c.(574-576)tGt>tCt	p.C192S		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	192					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCTTTCTGTGCCCCTCTG	0.627																																																	0													88	87	88					11																	66190289		2200	4295	6495	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.575G>C	11.37:g.66190289G>C	ENSP00000311196:p.Cys192Ser		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.C192S	ENST00000311034.2	37	c.575	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823394	0.90873	.	.	ENSG00000174576	ENST00000311034	T	0.53857	0.6	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000006	T	0.76335	0.3973	M	0.87097	2.86	0.80722	D	1	D	0.60575	0.988	D	0.70016	0.967	T	0.78826	-0.2051	10	0.54805	T	0.06	-6.5234	17.4135	0.87493	0.0:0.0:1.0:0.0	.	192	Q8IUM7	NPAS4_HUMAN	S	192	ENSP00000311196:C192S	ENSP00000311196:C192S	C	+	2	0	NPAS4	65946865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.720000	0.74723	2.702000	0.92279	0.655000	0.94253	TGT	NPAS4	-	NULL	ENSG00000174576		0.627	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	-	0	25	0	G	NM_178864		66190289	1	tier1	-	no_errors	ENST00000311034	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	C	C	66190289	G	C	66190289	3	2	38	1	0	0	0	0	1	0	0	0	10604	1377	48	5	589	5	NPAS4	11	66190289	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	5290390	66190289	68816227	103	9246											
SLC35F2	54733	genome.wustl.edu	37	chr11	107663383	107663383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaggttctcctccagCttcagccccaggttgtcaat	6	12	9	14	0	3	0	2	0	1	0	6	1	5	1	5	3	2	3	5	3	1	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:107663383C>A	ENST00000525815.1	-	8	1503	c.1083G>T	c.(1081-1083)aaG>aaT	p.K361N	SLC35F2_ENST00000265836.7_Missense_Mutation_p.K213N|SLC35F2_ENST00000375682.4_Missense_Mutation_p.K314N|SLC35F2_ENST00000429869.1_Missense_Mutation_p.K361N|SLC35F2_ENST00000525071.1_3'UTR	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	361					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		TCTCCTCCAGCTTCAGCCCCA	0.602																																																	0													52	56	55					11																	107663383		1973	4167	6140	SO:0001583	missense	0				CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"Solute carriers"	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.1083G>T	11.37:g.107663383C>A	ENSP00000436785:p.Lys361Asn		Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom	p.K361N	ENST00000525815.1	37	c.1083	CCDS41709.1	11	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535451	0.85812	.	.	ENSG00000110660	ENST00000525815;ENST00000265836;ENST00000375682;ENST00000429869	.	.	.	5.13	5.13	0.70059	.	0.177661	0.49916	D	0.000133	T	0.51449	0.1675	N	0.22421	0.69	0.42504	D	0.992947	D	0.59357	0.985	P	0.53102	0.718	T	0.50423	-0.8830	9	0.36615	T	0.2	.	16.7271	0.85424	0.0:1.0:0.0:0.0	.	361	Q8IXU6	S35F2_HUMAN	N	361;213;314;361	.	ENSP00000265836:K213N	K	-	3	2	SLC35F2	107168593	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	1.750000	0.38329	2.535000	0.85469	0.655000	0.94253	AAG	SLC35F2	-	pfam_SLC35_F1/F2/F6	ENSG00000110660		0.602	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F2	HGNC	protein_coding	OTTHUMT00000389417.1	-	0	52	0	C	NM_017515		107663383	-1	tier1	-	no_errors	ENST00000429869	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	107663383	C	A	107663383	3	1	38	1	0	0	0	0	1	0	0	0	14634	796	28	3	45	3	SLC35F2	11	107663383	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	41473094	107663383	27343133	104	9247											
ZW10	9183	genome.wustl.edu	37	chr11	113631036	113631036	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccatgctgagagatttcaAtatttttaaatcaaagcatt	14	15	5	7	0	2	2	2	1	0	1	3	3	3	2	1	0	2	2	1	0	5	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:113631036A>G	ENST00000200135.3	-	5	619	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	159	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGAGATTTCAATATTTTTAAA	0.378																																																	0													102	97	99					11																	113631036		2201	4296	6497	SO:0001819	synonymous_variant	0			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.475T>C	11.37:g.113631036A>G			A1A528	Silent	SNP	pfam_RZZ-complex_Zw10	p.L159	ENST00000200135.3	37	c.475	CCDS8363.1	11																																																																																			ZW10	-	pfam_RZZ-complex_Zw10	ENSG00000086827		0.378	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	-	0	32	0	A	NM_004724		113631036	-1	tier1	-	no_errors	ENST00000200135	ensembl	human	known	74_37	silent	36.36	21	12	SNP	0.939	G	G	113631036	A	G	113631036	2	3	38	1	0	0	0	0	0	0	0	1	18295	98	4	4		4	ZW10	11	113631036	Silent	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	5967653	113631036	21375480	105	9248											
MLL	4297	genome.wustl.edu	37	chr11	118365439	118365439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttttccatggttcagtGtcaaaaagtccaggttttgg	8	16	11	6	0	2	0	2	0	0	0	4	0	4	0	2	3	0	3	2	3	2	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:118365439G>T	ENST00000389506.5	+	18	5311	c.5311G>T	c.(5311-5313)Gtc>Ttc	p.V1771F	KMT2A_ENST00000534358.1_Missense_Mutation_p.V1774F|KMT2A_ENST00000354520.4_Missense_Mutation_p.V1733F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1771					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ATGGTTCAGTGTCAAAAAGTC	0.328																																																	0													115	106	109					11																	118365439		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5311G>T	11.37:g.118365439G>T	ENSP00000374157:p.Val1771Phe		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.V1771F	ENST00000389506.5	37	c.5311	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633335	0.67015	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83506	-1.73;-1.73;-1.65	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.993;0.987	D	0.87290	0.2298	10	0.52906	T	0.07	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	1774;1771	E9PQG7;Q03164	.;MLL1_HUMAN	F	1774;1771;1733;681	ENSP00000436786:V1774F;ENSP00000374157:V1771F;ENSP00000346516:V1733F	ENSP00000346516:V1733F	V	+	1	0	MLL	117870649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.042000	0.89430	2.826000	0.97356	0.655000	0.94253	GTC	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.328	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2		0	18	0	G	NM_005933		118365439	1			no_errors	ENST00000389506	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	118365439	G	T	118365439	3	4	38	1	0	0	0	0	1	0	0	0	9658	1377	48	3	5381	3	MLL	11	118365439	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	4734403	118365439	16641077	106	9249											
C2CD2L	1798	genome.wustl.edu	37	chr11	118981809	118981809	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaattgaggaactgatcaaGgatgccatagtcagcaccca	15	7	9	10	0	2	2	2	2	0	0	2	4	2	4	2	2	3	1	2	2	4	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:118981809G>T	ENST00000409993.2	-	0	0				C2CD2L_ENST00000336702.3_Missense_Mutation_p.K243N|C2CD2L_ENST00000528586.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AACTGATCAAGGATGCCATAG	0.547																																																	0													164	159	161					11																	118981809		2200	4295	6495	SO:0001631	upstream_gene_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981809G>T	Exception_encountered		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	superfamily_C2_dom	p.K243N	ENST00000409993.2	37	c.729	CCDS8411.1	11	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776830	0.31411	.	.	ENSG00000172375	ENST00000336702	T	0.80033	-1.33	4.56	1.69	0.24217	.	0.159081	0.56097	D	0.000038	T	0.65790	0.2725	N	0.19112	0.55	0.80722	D	1	B;B	0.21452	0.056;0.056	B;B	0.26202	0.067;0.067	T	0.57883	-0.7734	10	0.72032	D	0.01	-24.2214	7.4265	0.27102	0.3437:0.0:0.6563:0.0	.	243;243	O14523;O14523-2	C2C2L_HUMAN;.	N	243	ENSP00000338885:K243N	ENSP00000338885:K243N	K	+	3	2	C2CD2L	118487019	1.000000	0.71417	0.996000	0.52242	0.828000	0.46876	2.289000	0.43523	0.188000	0.20168	-0.379000	0.06801	AAG	C2CD2L	-	NULL	ENSG00000172375		0.547	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000331527.2	-	0	39	0	G	NM_001382		118981809	1	tier1	-	no_errors	ENST00000336702	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	118981809	G	T	118981809	1	4	38	0	1	0	0	0	0	0	0	0	2160	991	35	3		3	C2CD2L	11	118981809	5'Flank	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	616370	118981809	16024707	107	9250											
IGSF9B	22997	genome.wustl.edu	37	chr11	133789698	133789698	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcctcccccgtccttcGaggggaaggcgtctgtccaa	7	9	10	15	3	1	0	0	0	1	0	6	2	5	1	5	3	0	0	5	3	3	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:133789698G>T	ENST00000321016.8	-	18	4152	c.3922C>A	c.(3922-3924)Cga>Aga	p.R1308R	IGSF9B_ENST00000533871.2_Silent_p.R1308R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1308	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCGTCCTTCGAGGGGAAGGC	0.677																																																	0													19	23	22					11																	133789698		1981	4137	6118	SO:0001819	synonymous_variant	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3922C>A	11.37:g.133789698G>T			G5EA26	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1308	ENST00000321016.8	37	c.3922		11																																																																																			IGSF9B	-	NULL	ENSG00000080854		0.677	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding			0	36	0	G	XM_290502		133789698	-1			no_errors	ENST00000321016	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	T	T	133789698	G	T	133789698	2	4	38	1	0	0	0	0	0	0	0	1	7633	1066	37	2		2	IGSF9B	11	133789698	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	14807889	133789698	1216818	108	9251											
GLB1L2	89944	genome.wustl.edu	37	chr11	134240261	134240261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgccagtcttgtacctgTctctgtgggacgccctcaag	7	11	10	13	2	3	0	1	0	2	0	4	1	3	1	3	1	2	1	3	1	3	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr11:134240261T>C	ENST00000535456.2	+	12	1371	c.1183T>C	c.(1183-1185)Tct>Cct	p.S395P	GLB1L2_ENST00000339772.7_Missense_Mutation_p.S395P|GLB1L2_ENST00000389881.3_Missense_Mutation_p.S395P|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	395					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTTGTACCTGTCTCTGTGGGA	0.607																																																	0													203	170	181					11																	134240261		2201	4297	6498	SO:0001583	missense	0				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1183T>C	11.37:g.134240261T>C	ENSP00000444628:p.Ser395Pro		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.S395P	ENST00000535456.2	37	c.1183	CCDS31724.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.629|5.629	0.300813|0.300813	0.10678|0.10678	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.97378|.	-4.36;-4.36;-4.36|.	5.06|5.06	2.79|2.79	0.32731|0.32731	.|.	0.064380|.	0.64402|.	D|.	0.000004|.	T|T	0.42698|0.42698	0.1214|0.1214	L|L	0.33710|0.33710	1.025|1.025	0.46131|0.46131	D|D	0.998888|0.998888	B|.	0.18166|.	0.026|.	B|.	0.15484|.	0.013|.	T|T	0.17899|0.17899	-1.0354|-1.0354	10|5	0.17832|.	T|.	0.49|.	-22.1455|-22.1455	5.5552|5.5552	0.17113|0.17113	0.0:0.2888:0.0:0.7112|0.0:0.2888:0.0:0.7112	.|.	395|.	Q8IW92|.	GLBL2_HUMAN|.	P|A	395|333	ENSP00000344659:S395P;ENSP00000444628:S395P;ENSP00000374531:S395P|.	ENSP00000344659:S395P|.	S|V	+|+	1|2	0|0	GLB1L2|GLB1L2	133745471|133745471	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.222000|0.222000	0.24845|0.24845	2.243000|2.243000	0.43115|0.43115	1.032000|1.032000	0.39892|0.39892	0.523000|0.523000	0.50628|0.50628	TCT|GTC	GLB1L2	-	NULL	ENSG00000149328		0.607	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	HGNC	protein_coding	OTTHUMT00000393629.2	-	0	82	0	T	NM_138342		134240261	1	tier1	-	no_errors	ENST00000339772	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	134240261	T	C	134240261	3	2	38	1	0	0	0	0	1	0	0	0	6455	1667	58	4	1229	4	GLB1L2	11	134240261	Missense_Mutation	SNP	T	TCGA-JY-A6FE-01A-11D-A33E-09	450563	134240261	766255	109	9252											
LPCAT3	10162	genome.wustl.edu	37	chr12	7086807	7086807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccatctggaagcagaccaGgtatcctgagtgcaggccgt	9	9	12	11	1	1	2	0	1	1	1	3	3	3	3	4	3	2	3	4	3	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:7086807G>T	ENST00000261407.4	-	10	1226	c.1141C>A	c.(1141-1143)Ctg>Atg	p.L381M	U47924.30_ENST00000606112.1_lincRNA|LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	381					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAGCAGACCAGGTATCCTGAG	0.498																																																	0													104	110	108					12																	7086807		2203	4300	6503	SO:0001583	missense	0			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1141C>A	12.37:g.7086807G>T	ENSP00000261407:p.Leu381Met		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	pfam_MBOAT_fam	p.L381M	ENST00000261407.4	37	c.1141	CCDS8572.1	12	.	.	.	.	.	.	.	.	.	.	G	18.38	3.612027	0.66672	.	.	ENSG00000111684	ENST00000261407	T	0.75477	-0.94	5.29	5.29	0.74685	.	0.264979	0.31335	N	0.007822	T	0.81259	0.4785	M	0.65975	2.015	0.48288	D	0.99962	D	0.58970	0.984	P	0.60541	0.876	T	0.82478	-0.0437	10	0.66056	D	0.02	-17.1569	9.6279	0.39761	0.1544:0.0:0.8456:0.0	.	381	Q6P1A2	MBOA5_HUMAN	M	381	ENSP00000261407:L381M	ENSP00000261407:L381M	L	-	1	2	LPCAT3	6957068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.141000	0.31528	2.478000	0.83669	0.561000	0.74099	CTG	LPCAT3	-	pfam_MBOAT_fam	ENSG00000111684		0.498	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT3	HGNC	protein_coding	OTTHUMT00000401812.1		0	53	0	G	NM_005768		7086807	-1			no_errors	ENST00000261407	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	7086807	G	T	7086807	3	4	38	1	0	0	0	0	1	0	0	0	8947	991	35	3	334	3	LPCAT3	12	7086807	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		7086807	126765088	110	9253											
KIAA1467	57613	genome.wustl.edu	37	chr12	13224300	13224300	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcttcctcttctgggcCgaagggctgtcagctgcatc	4	13	11	13	1	5	0	1	0	4	0	7	1	6	0	2	2	2	3	2	2	1	2	rs374898629		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:13224300C>G	ENST00000197268.8	+	10	1614	c.1494C>G	c.(1492-1494)gcC>gcG	p.A498A		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	498						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCTTCTGGGCCGAAGGGCTGT	0.537																																																	0													95	89	91					12																	13224300		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1494C>G	12.37:g.13224300C>G			Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.A498	ENST00000197268.8	37	c.1494	CCDS31750.1	12																																																																																			KIAA1467	-	NULL	ENSG00000084444		0.537	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0	35	0	C	NM_020853		13224300	1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	silent	51.72	14	15	SNP	0.134	G	G	13224300	C	G	13224300	2	3	38	1	0	0	0	0	0	0	0	1	8262	639	23	5		5	KIAA1467	12	13224300	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	6137493	13224300	120627595	111	9254											
TSFM	10677	genome.wustl.edu	37	chr12	58196399	58196399	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatccaacttcttgcaGaacacctcctcttgactgct	9	12	5	15	0	2	3	0	2	2	1	4	3	4	3	4	0	4	2	4	0	3	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:58196399G>T	ENST00000257861.3	-	16	2393				TSFM_ENST00000543727.1_Missense_Mutation_p.Q211H|AVIL_ENST00000550083.1_5'Flank|AVIL_ENST00000537081.1_Intron|TSFM_ENST00000550559.1_3'UTR|RP11-571M6.17_ENST00000602802.1_lincRNA|TSFM_ENST00000548851.1_Intron	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin						actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					acttcttgcagaacacctcct	0.393																																																	0																																										SO:0001627	intron_variant	0			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1963-268C>A	12.37:g.58196399G>T			B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like	p.Q211H	ENST00000257861.3	37	c.633	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	G	3.870	-0.028026	0.07589	.	.	ENSG00000123297	ENST00000543727	.	.	.	3.53	-5.09	0.02920	.	.	.	.	.	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.18713	-1.0328	6	0.31617	T	0.26	.	2.3686	0.04325	0.2489:0.1588:0.4363:0.1559	.	.	.	.	H	211	.	ENSP00000439342:Q211H	Q	+	3	2	TSFM	56482666	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.189000	0.09629	-1.174000	0.02754	-0.379000	0.06801	CAG	TSFM	-	NULL	ENSG00000123297		0.393	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409276.1	-	0	34	0	G	NM_006576		58196399	1	tier1	-	no_errors	ENST00000543727	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T	T	58196399	G	T	58196399	1	4	38	0	1	0	0	0	0	0	0	0	16663	933	33	3		3	TSFM	12	58196399	Intron	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	44972099	58196399	75655496	112	9255											
LIN7A	8825	genome.wustl.edu	37	chr12	81242083	81242083	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattaacagttatcgtttCatgcatatattgatacacct	12	15	5	9	1	1	1	1	1	0	0	2	1	1	1	2	0	3	3	2	0	5	7			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:81242083C>A	ENST00000552864.1	-	3	422	c.220G>T	c.(220-222)Gaa>Taa	p.E74*		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	74	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTTATCGTTTCATGCATATAT	0.323																																																	0													79	75	77					12																	81242083		2203	4299	6502	SO:0001587	stop_gained	0			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.220G>T	12.37:g.81242083C>A	ENSP00000447488:p.Glu74*		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Nonsense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.E74*	ENST00000552864.1	37	c.220	CCDS9021.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.866139|4.866139	0.91511|0.91511	.|.	.|.	ENSG00000111052|ENSG00000111052	ENST00000552864;ENST00000549417|ENST00000552093	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80025	.|0.4548	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77678	.|-0.2498	.|3	0.72032|.	D|.	0.01|.	-17.795|-17.795	20.0637|20.0637	0.97700|0.97700	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	74;68|39	.|.	ENSP00000261203:E74X|.	E|M	-|-	1|3	0|0	LIN7A|LIN7A	79766214|79766214	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GAA|ATG	LIN7A	-	pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27	ENSG00000111052		0.323	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1		0	46	0	C			81242083	-1			no_errors	ENST00000552864	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	1.000	A	A	81242083	C	A	81242083	4	1	38	1	0	0	0	0	0	1	0	0	8840	835	29	3	493	3	LIN7A	12	81242083	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	23045684	81242083	52609812	113	9256											
CEP290	80184	genome.wustl.edu	37	chr12	88508920	88508920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctactcctttctaaatCtctttctttttcaattagtt	7	22	2	10	0	4	0	1	0	3	0	7	0	6	0	2	0	1	1	2	0	5	8			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:88508920C>A	ENST00000552810.1	-	19	2207	c.1864G>T	c.(1864-1866)Gat>Tat	p.D622Y	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.D624Y	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	622					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.D624Y(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTTTCTAAATCTCTTTCTTTT	0.249																																																	1	Substitution - Missense(1)	lung(1)											53	50	51					12																	88508920		1787	4051	5838	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1864G>T	12.37:g.88508920C>A	ENSP00000448012:p.Asp622Tyr		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.D624Y	ENST00000552810.1	37	c.1870	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300506	0.81136	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.80393	-1.37;-1.37	5.35	5.35	0.76521	.	0.055527	0.64402	D	0.000001	D	0.84524	0.5491	L	0.44542	1.39	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.57152	0.814;0.742	D	0.85471	0.1173	10	0.62326	D	0.03	.	19.4455	0.94844	0.0:1.0:0.0:0.0	.	622;622	Q05BJ6;O15078	.;CE290_HUMAN	Y	622;624;622;524	ENSP00000448012:D622Y;ENSP00000308021:D624Y	ENSP00000308021:D624Y	D	-	1	0	CEP290	87033051	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.009000	0.70745	2.666000	0.90696	0.650000	0.86243	GAT	CEP290	-	NULL	ENSG00000198707		0.249	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1		0	28	0	C	NM_025114		88508920	-1			no_errors	ENST00000309041	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	A	A	88508920	C	A	88508920	3	1	38	1	0	0	0	0	1	0	0	0	3260	913	32	3	5719	3	CEP290	12	88508920	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	7266837	88508920	45342975	114	9257											
NTN4	59277	genome.wustl.edu	37	chr12	96063915	96063915	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtctgttccttacattcGcatttacctatggaaagtaa	12	15	6	8	1	1	0	0	0	1	0	3	1	2	1	2	1	2	3	2	1	6	7			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:96063915G>T	ENST00000343702.4	-	8	1966	c.1518C>A	c.(1516-1518)tgC>tgA	p.C506*	PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000553059.1_Intron|NTN4_ENST00000344911.4_Nonsense_Mutation_p.C469*|NTN4_ENST00000538383.1_Nonsense_Mutation_p.C469*	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	506	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCTTACATTCGCATTTACCTA	0.343																																																	0													95	85	88					12																	96063915		2203	4300	6503	SO:0001587	stop_gained	0			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"Netrins"	13658	protein-coding gene	gene with protein product	"beta-netrin", "Netrin-4"	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1518C>A	12.37:g.96063915G>T	ENSP00000340998:p.Cys506*		B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Nonsense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.C506*	ENST00000343702.4	37	c.1518	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924240	0.92319	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383	.	.	.	5.98	2.25	0.28309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4088	0.49913	0.8039:0.0:0.1961:0.0	.	.	.	.	X	506;469;469	.	ENSP00000340998:C506X	C	-	3	2	NTN4	94588046	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	0.985000	0.29578	0.156000	0.19299	-1.405000	0.01134	TGC	NTN4	-	superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain	ENSG00000074527		0.343	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1		0	22	0	G	NM_021229		96063915	-1			no_errors	ENST00000343702	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.999	T	T	96063915	G	T	96063915	4	4	38	1	0	0	0	0	0	1	0	0	10741	1079	38	2	380	2	NTN4	12	96063915	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	7554995	96063915	37787980	115	9258											
ACACB	32	genome.wustl.edu	37	chr12	109665216	109665216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcctatgagttaaacaGcctgcagcaccggcagctcc	10	7	9	15	2	0	1	0	1	0	0	2	1	1	1	4	1	5	5	4	1	3	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:109665216G>T	ENST00000338432.7	+	28	4042	c.3923G>T	c.(3922-3924)aGc>aTc	p.S1308I	ACACB_ENST00000377854.5_Missense_Mutation_p.S1238I|ACACB_ENST00000377848.3_Missense_Mutation_p.S1308I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1308					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GAGTTAAACAGCCTGCAGCAC	0.582																																																	0													56	48	51					12																	109665216		2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3923G>T	12.37:g.109665216G>T	ENSP00000341044:p.Ser1308Ile		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.S1308I	ENST00000338432.7	37	c.3923	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.244681	0.95272	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.47177	0.85;0.85;0.85	5.38	5.38	0.77491	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.74636	-0.3599	10	0.52906	T	0.07	.	19.5107	0.95140	0.0:0.0:1.0:0.0	.	1308	O00763	ACACB_HUMAN	I	1308;1308;1238;539	ENSP00000341044:S1308I;ENSP00000367079:S1308I;ENSP00000367085:S1238I	ENSP00000341044:S1308I	S	+	2	0	ACACB	108149599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.855000	0.99526	2.679000	0.91253	0.655000	0.94253	AGC	ACACB	-	pfam_AcCoA_COase_cen	ENSG00000076555		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	60	0	G	NM_001093		109665216	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	109665216	G	T	109665216	3	4	38	1	0	0	0	0	1	0	0	0	107	971	34	3	4029	3	ACACB	12	109665216	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	13601301	109665216	24186679	116	9259											
WDR66	144406	genome.wustl.edu	37	chr12	122361696	122361696	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccctcaggagagcttGaggagaaaaccgaccggatg	12	4	15	10	2	1	3	1	1	0	2	1	7	1	4	3	4	3	2	3	4	2	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:122361696G>T	ENST00000288912.4	+	3	1401	c.547G>T	c.(547-549)Gag>Tag	p.E183*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.E183*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	183							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGGAGAGCTTGAGGAGAAAAC	0.478																																					Esophageal Squamous(85;849 1794 49757 52143)												0													102	98	100					12																	122361696		1859	4093	5952	SO:0001587	stop_gained	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.547G>T	12.37:g.122361696G>T	ENSP00000288912:p.Glu183*		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E183*	ENST00000288912.4	37	c.547	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231628	0.79688	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	3.86	0.76	0.18442	.	4.066800	0.00682	N	0.000697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	3.9557	0.09388	0.2563:0.2986:0.4451:0.0	.	.	.	.	X	183	.	ENSP00000288912:E183X	E	+	1	0	WDR66	120846079	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-0.023000	0.12456	0.285000	0.22329	0.460000	0.39030	GAG	WDR66	-	NULL	ENSG00000158023		0.478	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0	41	0	G	NM_144668		122361696	1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.000	T	T	122361696	G	T	122361696	4	4	38	1	0	0	0	0	0	1	0	0	17366	1291	45	3	553	3	WDR66	12	122361696	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	12696480	122361696	11490199	117	9260											
CLIP1	6249	genome.wustl.edu	37	chr12	122862043	122862043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttgtaaggttgctgatcgGaggcgtagctgaaggttcct	7	14	14	6	2	0	2	0	2	0	0	2	3	1	3	1	4	2	6	1	4	3	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr12:122862043G>T	ENST00000540338.1	-	2	591	c.550C>A	c.(550-552)Ccg>Acg	p.P184T	CLIP1_ENST00000361654.4_Missense_Mutation_p.P184T|CLIP1_ENST00000302528.7_Missense_Mutation_p.P184T|CLIP1_ENST00000358808.2_Missense_Mutation_p.P184T|CLIP1_ENST00000537178.1_Missense_Mutation_p.P184T			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	184	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCTGATCGGAGGCGTAGCT	0.507																																																	0													178	159	166					12																	122862043		2203	4300	6503	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.550C>A	12.37:g.122862043G>T	ENSP00000439093:p.Pro184Thr		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.P184T	ENST00000540338.1	37	c.550	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	1.983	-0.433693	0.04669	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.81	5.81	0.92471	Cytoskeleton-associated protein, Gly-rich domain (1);	0.228569	0.46145	D	0.000309	T	0.60753	0.2293	N	0.14661	0.345	0.45295	D	0.99829	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.15484	0.004;0.012;0.012;0.013	T	0.55829	-0.8079	10	0.13470	T	0.59	-8.2886	20.0912	0.97820	0.0:0.0:1.0:0.0	.	184;184;184;184	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	T	184;184;29;184;184;184;184	ENSP00000303585:P184T;ENSP00000351665:P184T;ENSP00000445531:P184T;ENSP00000439093:P184T;ENSP00000437786:P184T;ENSP00000441409:P184T	ENSP00000303585:P184T	P	-	1	0	CLIP1	121427996	1.000000	0.71417	0.881000	0.34555	0.070000	0.16714	5.360000	0.66086	2.746000	0.94184	0.591000	0.81541	CCG	CLIP1	-	superfamily_CAP-Gly_domain	ENSG00000130779		0.507	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1		0	69	0	G	NM_002956		122862043	-1			no_errors	ENST00000540338	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T	T	122862043	G	T	122862043	3	4	38	1	0	0	0	0	1	0	0	0	3539	1174	41	3	3825	3	CLIP1	12	122862043	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	500347	122862043	10989852	118	9261											
COG6	57511	genome.wustl.edu	37	chr13	40261702	40261702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcgtggatttattgatgCgctcacaagagggggccccg	7	11	14	9	3	1	2	1	1	0	1	2	3	1	3	2	3	1	2	2	3	2	4	rs148869108		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr13:40261702C>T	ENST00000455146.3	+	9	901	c.851C>T	c.(850-852)gCg>gTg	p.A284V	COG6_ENST00000416691.1_Missense_Mutation_p.A284V	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	284					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TTTATTGATGCGCTCACAAGA	0.418																																																	0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	95	96	96		851,851	5.7	1	13	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	COG6	NM_001145079.1,NM_020751.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	284/616,284/658	40261702	1,13005	2203	4300	6503	SO:0001583	missense	0			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.851C>T	13.37:g.40261702C>T	ENSP00000397441:p.Ala284Val		Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	pfam_COG6	p.A284V	ENST00000455146.3	37	c.851	CCDS9370.1	13	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910341	0.92107	0.0	1.16E-4	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.61392	0.11;0.11	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79464	0.4450	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.948	T	0.79619	-0.1728	10	0.44086	T	0.13	-21.5914	18.7723	0.91898	0.0:1.0:0.0:0.0	.	305;284	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	V	284;315;284	ENSP00000403733:A284V;ENSP00000397441:A284V	ENSP00000255468:A315V	A	+	2	0	COG6	39159702	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.276000	0.78559	2.676000	0.91093	0.591000	0.81541	GCG	COG6	-	pfam_COG6	ENSG00000133103		0.418	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	HGNC	protein_coding	OTTHUMT00000044622.3	-	0	32	0	C			40261702	1	tier1	rs148869108	no_errors	ENST00000455146	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	40261702	C	T	40261702	3	4	38	1	0	0	0	0	1	0	0	0	3669	768	27	1	885	1	COG6	13	40261702	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09		40261702	74908176	119	9262											
MTRF1	9617	genome.wustl.edu	37	chr13	41826879	41826879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcgggtaaattgttggCagatgtcacctaaaacaaaa	14	12	8	7	1	2	1	1	0	1	1	3	1	2	1	1	2	1	3	1	2	6	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr13:41826879C>T	ENST00000379480.4	-	5	699	c.599G>A	c.(598-600)tGc>tAc	p.C200Y	MTRF1_ENST00000379477.1_Missense_Mutation_p.C200Y|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.C213Y	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	200					regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		AAATTGTTGGCAGATGTCACC	0.333																																																	0													56	53	54					13																	41826879		2202	4299	6501	SO:0001583	missense	0			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"mitochontrial peptide chain release factor 1"	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.599G>A	13.37:g.41826879C>T	ENSP00000368793:p.Cys200Tyr		B4DG01|Q5T6Y5|Q8IUQ6	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.C213Y	ENST00000379480.4	37	c.638	CCDS9378.1	13	.	.	.	.	.	.	.	.	.	.	C	19.50	3.838742	0.71373	.	.	ENSG00000120662	ENST00000379480;ENST00000379477;ENST00000430347;ENST00000452359	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.88	5.88	0.94601	Peptide chain release factor (2);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	M	0.63428	1.95	0.80722	D	1	D;D	0.64830	0.994;0.964	P;P	0.62014	0.897;0.832	T	0.62973	-0.6740	10	0.87932	D	0	-8.0782	20.1989	0.98252	0.0:1.0:0.0:0.0	.	213;200	B4DG01;O75570	.;RF1M_HUMAN	Y	200;200;213;200	ENSP00000368793:C200Y;ENSP00000368790:C200Y;ENSP00000400031:C213Y;ENSP00000399279:C200Y	ENSP00000368790:C200Y	C	-	2	0	MTRF1	40724879	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.202000	0.77856	2.784000	0.95788	0.591000	0.81541	TGC	MTRF1	-	pfam_PCRF,smart_PCRF	ENSG00000120662		0.333	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3	-	0	45	0	C	NM_004294		41826879	-1	tier1	-	no_errors	ENST00000430347	ensembl	human	known	74_37	missense	70.91	15	39	SNP	1.000	T	T	41826879	C	T	41826879	3	4	38	1	0	0	0	0	1	0	0	0	9997	710	25	3	762	3	MTRF1	13	41826879	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	1565177	41826879	73342999	120	9263											
NALCN	259232	genome.wustl.edu	37	chr13	101755521	101755521	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaggataattctcacatAccaaaaaaatttccttgaag	18	11	4	8	0	2	1	2	1	1	0	4	2	3	2	2	1	1	0	2	1	7	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr13:101755521A>G	ENST00000251127.6	-	26	3139		c.e26+1			NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATTCTCACATACCAAAAAAAT	0.428																																																	0													105	113	110					13																	101755521		2203	4300	6503	SO:0001630	splice_region_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3057+1T>C	13.37:g.101755521A>G			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Splice_Site	SNP	-	e25+2	ENST00000251127.6	37	c.3057+2	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816307	0.50527	.	.	ENSG00000102452	ENST00000251127	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0866	0.72158	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NALCN	100553522	1.000000	0.71417	0.969000	0.41365	0.376000	0.30014	8.763000	0.91715	2.015000	0.59207	0.528000	0.53228	.	NALCN	-	-	ENSG00000102452		0.428	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	40	0	A	NM_052867	Intron	101755521	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	splice_site	8.05	79	7	SNP	1.000	G	G	101755521	A	G	101755521	5	3	38	1	0	0	0	0	0	0	1	0	10186	405	14	4	2233	4	NALCN	13	101755521	Splice_Site	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	59928642	101755521	13414357	121	9264											
MYO16	23026	genome.wustl.edu	37	chr13	109617123	109617124	+	Frame_Shift_Ins	INS	-	-	T																															tttaggggatatgataatacINSgacgacataccatacagatt																								rs201689443		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr13:109617123_109617124insT	ENST00000357550.2	+	19	2217_2218	c.2176_2177insT	c.(2176-2178)cgafs	p.R726fs	MYO16_ENST00000457511.2_Frame_Shift_Ins_p.R238fs|MYO16_ENST00000356711.2_Frame_Shift_Ins_p.R726fs|MYO16_ENST00000251041.5_Frame_Shift_Ins_p.R726fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TATGATAATACGACGACATACC	0.411																																																	0																																										SO:0001589	frameshift_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	Exception_encountered	13.37:g.109617123_109617124insT	ENSP00000350160:p.Arg726fs			Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R726fs	ENST00000357550.2	37	c.2176_2177	CCDS32008.1	13																																																																																			MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000041515		0.411	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1		0	67	0	-	NM_015011		109617124	1	tier1		no_errors	ENST00000356711	ensembl	human	known	74_37	frame_shift_ins	32.72	109	53	INS	0.055:0.194	T	T	109617124	-	T	109617123	7	5	38	1	0	1	1	0	0	0	0	0	10102	528	19	0	2250	0	MYO16	13	109617123	Frame_Shift_Ins	INS	-	TCGA-JY-A6FE-01A-11D-A33E-09	7861602	109617123	5552755	122	9265											
SOCS4	122809	genome.wustl.edu	37	chr14	55509975	55509975	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaagcacagctgttcAtccattgagttggacttaga	13	10	11	7	0	1	2	1	1	0	1	2	5	2	4	1	2	2	4	1	2	3	4	rs535547343		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr14:55509975A>C	ENST00000395472.2	+	2	548	c.216A>C	c.(214-216)tcA>tcC	p.S72S	SOCS4_ENST00000339298.2_Silent_p.S72S|SOCS4_ENST00000555846.1_Silent_p.S72S	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	72					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						ACAGCTGTTCATCCATTGAGT	0.423																																																	0													163	150	155					14																	55509975		2203	4300	6503	SO:0001819	synonymous_variant	0			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.216A>C	14.37:g.55509975A>C				Silent	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S72	ENST00000395472.2	37	c.216	CCDS9722.1	14																																																																																			SOCS4	-	pfam_SOCS	ENSG00000180008		0.423	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	-	0	54	0	A			55509975	1	tier1	-	no_errors	ENST00000339298	ensembl	human	known	74_37	silent	75.93	13	41	SNP	0.956	C	C	55509975	A	C	55509975	2	2	38	1	0	0	0	0	0	0	0	1	14961	204	8	4		4	SOCS4	14	55509975	Silent	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09		55509975	51839565	123	9266											
MLH3	27030	genome.wustl.edu	37	chr14	75514257	75514257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctgtttgtgattttttgCtaccttcctgaaaagcagaa	11	16	7	7	0	1	3	0	2	1	1	2	3	2	3	2	0	3	3	2	0	5	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr14:75514257C>T	ENST00000556740.1	-	1	2137	c.2102G>A	c.(2101-2103)aGc>aAc	p.S701N	MLH3_ENST00000355774.2_Missense_Mutation_p.S701N|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000238662.7_Missense_Mutation_p.S701N|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.S701N|MLH3_ENST00000380968.2_5'UTR			Q9UHC1	MLH3_HUMAN	mutL homolog 3	701					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.S701T(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGATTTTTTGCTACCTTCCTG	0.348								Mismatch excision repair (MMR)																																									2	Substitution - Missense(2)	lung(2)											89	90	90					14																	75514257		2203	4300	6503	SO:0001583	missense	0			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"mutL (E. coli) homolog 3", "mutL homolog 3 (E. coli)"			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2102G>A	14.37:g.75514257C>T	ENSP00000452316:p.Ser701Asn		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C	p.S701N	ENST00000556740.1	37	c.2102	CCDS32123.1	14	.	.	.	.	.	.	.	.	.	.	C	8.581	0.882359	0.17467	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	6.07	1.96	0.26148	.	0.809703	0.12253	N	0.485491	T	0.23572	0.0570	L	0.60455	1.87	0.09310	N	0.999995	B;B	0.34015	0.435;0.309	B;B	0.33620	0.167;0.055	T	0.19451	-1.0305	10	0.20519	T	0.43	0.6274	2.1586	0.03819	0.1507:0.3952:0.2922:0.1619	.	701;701	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	N	701	ENSP00000348020:S701N;ENSP00000238662:S701N;ENSP00000451540:S701N;ENSP00000452316:S701N	ENSP00000238662:S701N	S	-	2	0	MLH3	74584010	0.000000	0.05858	0.004000	0.12327	0.057000	0.15508	0.130000	0.15850	0.422000	0.26005	0.655000	0.94253	AGC	MLH3	-	NULL	ENSG00000119684		0.348	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH3	HGNC	protein_coding	OTTHUMT00000415006.1	-	0	51	0	C	NM_014381		75514257	-1	tier1	-	no_errors	ENST00000355774	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.001	T	T	75514257	C	T	75514257	3	4	38	1	0	0	0	0	1	0	0	0	9656	797	28	3	2307	3	MLH3	14	75514257	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	20004282	75514257	31835283	124	9267											
C14orf145	145508	genome.wustl.edu	37	chr14	81372310	81372310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgtttacctgacccagtgCcaccatcaaggtcacttgca	10	10	8	13	0	2	1	2	1	0	0	2	1	2	1	4	1	3	2	4	1	2	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr14:81372310C>T	ENST00000555265.1	-	5	725	c.350G>A	c.(349-351)gGc>gAc	p.G117D	CEP128_ENST00000327841.2_Missense_Mutation_p.G57D|CEP128_ENST00000281129.3_Missense_Mutation_p.G117D|CEP128_ENST00000216517.6_Missense_Mutation_p.G117D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	117						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TGACCCAGTGCCACCATCAAG	0.358																																																	0													79	74	76					14																	81372310		2203	4300	6503	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.350G>A	14.37:g.81372310C>T	ENSP00000451162:p.Gly117Asp		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.G117D	ENST00000555265.1	37	c.350	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	C	4.688	0.127838	0.08981	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841;ENST00000555529;ENST00000556042	T;T;T;T;T	0.46451	1.47;1.47;0.88;0.87;0.88	5.92	0.114	0.14639	.	0.352841	0.26738	N	0.022742	T	0.20210	0.0486	L	0.27053	0.805	0.18873	N	0.999983	B;B;B	0.15141	0.006;0.012;0.006	B;B;B	0.16289	0.009;0.015;0.009	T	0.16719	-1.0393	10	0.09590	T	0.72	.	3.5889	0.07981	0.242:0.4096:0.2634:0.085	.	117;117;117	G3V3F4;Q6ZU80-3;Q6ZU80	.;.;CE128_HUMAN	D	117;117;117;117;57;117;117	ENSP00000281129:G117D;ENSP00000451162:G117D;ENSP00000216517:G117D;ENSP00000451137:G117D;ENSP00000451214:G117D	ENSP00000216517:G117D	G	-	2	0	CEP128	80442063	0.218000	0.23608	0.712000	0.30502	0.019000	0.09904	0.382000	0.20635	0.065000	0.16485	0.650000	0.86243	GGC	CEP128	-	NULL	ENSG00000100629		0.358	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1		0	27	0	C	NM_152446		81372310	-1			no_errors	ENST00000281129	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.030	T	T	81372310	C	T	81372310	3	4	38	1	0	0	0	0	1	0	0	0	1754	739	26	3	3018	3	C14orf145	14	81372310	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	5858053	81372310	25977230	125	9268											
CKB	1152	genome.wustl.edu	37	chr14	103988794	103988794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcctcggccgggaagcGcagcttcagtgcgttgtggc	4	9	15	13	5	1	0	1	0	0	0	4	1	2	1	2	3	3	3	2	3	1	2	rs550707844		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr14:103988794G>T	ENST00000348956.2	-	2	394	c.37C>A	c.(37-39)Cgc>Agc	p.R13S	RP11-600F24.7_ENST00000568177.1_RNA	NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	13	Phosphagen kinase N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00842}.				cellular chloride ion homeostasis (GO:0030644)|cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCCGGGAAGCGCAGCTTCAGT	0.706																																					Esophageal Squamous(186;2492 2823 49929 50127)												0													58	51	53					14																	103988794		2202	4300	6502	SO:0001583	missense	0				CCDS9981.1	14q32.32	2012-10-02			ENSG00000166165	ENSG00000166165	2.7.3.2		1991	protein-coding gene	gene with protein product		123280		CKBB			Standard	NM_001823		Approved		uc001ynf.2	P12277	OTTHUMG00000171786	ENST00000348956.2:c.37C>A	14.37:g.103988794G>T	ENSP00000299198:p.Arg13Ser		A8K236|B2R5R4|Q2LE07|Q6FG40|Q9UC66	Missense_Mutation	SNP	pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N	p.R13S	ENST00000348956.2	37	c.37	CCDS9981.1	14	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165752	0.38217	.	.	ENSG00000166165	ENST00000348956;ENST00000428256;ENST00000553878	T;T	0.62788	-0.0;-0.0	4.17	2.28	0.28536	ATP:guanido phosphotransferase, N-terminal (3);	0.201519	0.39687	N	0.001298	T	0.43077	0.1231	N	0.22421	0.69	0.32313	N	0.563446	B	0.14805	0.011	B	0.14578	0.011	T	0.43196	-0.9406	10	0.54805	T	0.06	0.7127	6.2483	0.20832	0.0947:0.0:0.3957:0.5095	.	13	P12277	KCRB_HUMAN	S	13	ENSP00000299198:R13S;ENSP00000451904:R13S	ENSP00000299198:R13S	R	-	1	0	CKB	103058547	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.647000	0.46639	0.408000	0.25621	0.297000	0.19635	CGC	CKB	-	superfamily_ATP-guanido_PTrfase_N	ENSG00000166165		0.706	CKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKB	HGNC	protein_coding	OTTHUMT00000415111.1	-	0	19	0	G			103988794	-1	tier1	-	no_errors	ENST00000348956	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	103988794	G	T	103988794	3	4	38	1	0	0	0	0	1	0	0	0	3453	1087	38	2	1136	2	CKB	14	103988794	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	22616484	103988794	3360746	126	9269											
RYR3	6263	genome.wustl.edu	37	chr15	33955036	33955036	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggagggagcagaaaagGaggaagtgacccaggtggag	15	2	19	5	0	0	3	0	1	0	2	0	8	0	8	1	6	1	1	1	6	3	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr15:33955036G>T	ENST00000389232.4	+	35	5375	c.5305G>T	c.(5305-5307)Gag>Tag	p.E1769*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E1769*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1769	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCAGAAAAGGAGGAAGTGAC	0.567																																																	0													163	179	174					15																	33955036		2071	4216	6287	SO:0001587	stop_gained	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5305G>T	15.37:g.33955036G>T	ENSP00000373884:p.Glu1769*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E1769*	ENST00000389232.4	37	c.5305	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	45	11.830751	0.99607	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	3.94	3.94	0.45596	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	16.9111	0.86140	0.0:0.0:1.0:0.0	.	.	.	.	X	1769	.	ENSP00000354735:E1769X	E	+	1	0	RYR3	31742328	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.970000	0.76099	2.509000	0.84616	0.655000	0.94253	GAG	RYR3	-	NULL	ENSG00000198838		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0	78	0	G			33955036	1			no_errors	ENST00000389232	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	33955036	G	T	33955036	4	4	38	1	0	0	0	0	0	1	0	0	13815	1175	41	3	5443	3	RYR3	15	33955036	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		33955036	68576356	127	9270											
RYR3	6263	genome.wustl.edu	37	chr15	34015021	34015021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggaaacgggctcttggCagccatgcagggtgccatta	8	7	17	9	1	1	0	0	0	1	0	1	1	1	1	2	6	4	3	2	6	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr15:34015021C>T	ENST00000389232.4	+	44	6795	c.6725C>T	c.(6724-6726)gCa>gTa	p.A2242V	RYR3_ENST00000415757.3_Missense_Mutation_p.A2242V|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2242	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGCTCTTGGCAGCCATGCAG	0.577																																																	0													84	92	90					15																	34015021		1970	4129	6099	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6725C>T	15.37:g.34015021C>T	ENSP00000373884:p.Ala2242Val		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A2242V	ENST00000389232.4	37	c.6725	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240236	0.39598	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98221	-4.8;-4.8	4.93	4.93	0.64822	.	0.125893	0.52532	D	0.000071	D	0.96907	0.8990	L	0.49640	1.575	0.54753	D	0.999989	B;B	0.22851	0.021;0.076	B;B	0.27608	0.021;0.081	D	0.95208	0.8323	10	0.52906	T	0.07	.	18.336	0.90288	0.0:1.0:0.0:0.0	.	2242;2242	Q15413-2;Q15413	.;RYR3_HUMAN	V	2242	ENSP00000373884:A2242V;ENSP00000399610:A2242V	ENSP00000354735:A2242V	A	+	2	0	RYR3	31802313	1.000000	0.71417	0.952000	0.39060	0.165000	0.22458	4.672000	0.61597	2.553000	0.86117	0.555000	0.69702	GCA	RYR3	-	NULL	ENSG00000198838		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	45	0	C			34015021	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.995	T	T	34015021	C	T	34015021	3	4	38	1	0	0	0	0	1	0	0	0	13815	710	25	3	6899	3	RYR3	15	34015021	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	59985	34015021	68516371	128	9271											
DYX1C1	161582	genome.wustl.edu	37	chr15	55759136	55759136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatcattttaccttttggaGcaagatttctagatgccaaa	13	15	6	7	0	2	2	1	0	1	2	2	3	2	3	2	1	3	1	2	1	5	7	rs146811023		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr15:55759136G>T	ENST00000321149.3	-	5	996	c.629C>A	c.(628-630)gCt>gAt	p.A210D	DYX1C1_ENST00000448430.2_Missense_Mutation_p.A210D|DYX1C1_ENST00000348518.3_Missense_Mutation_p.A210D|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Missense_Mutation_p.A210D|DYX1C1_ENST00000380679.1_Missense_Mutation_p.A210D	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	210					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.A210V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ACCTTTTGGAGCAAGATTTCT	0.279																																																	1	Substitution - Missense(1)	skin(1)											40	44	43					15																	55759136		2191	4277	6468	SO:0001583	missense	0				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"Tetratricopeptide (TTC) repeat domain containing"	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.629C>A	15.37:g.55759136G>T	ENSP00000323275:p.Ala210Asp		Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A210D	ENST00000321149.3	37	c.629	CCDS10154.1	15	.	.	.	.	.	.	.	.	.	.	G	4.014	-0.000061	0.07819	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	3.61	3.61	0.41365	.	1.373380	0.04913	U	0.453548	T	0.31420	0.0796	L	0.27053	0.805	0.27005	N	0.964816	B;B;B	0.14438	0.002;0.001;0.01	B;B;B	0.09377	0.004;0.001;0.004	T	0.10222	-1.0639	10	0.11485	T	0.65	.	11.0758	0.48030	0.0:0.0:1.0:0.0	.	210;210;210	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	D	210	ENSP00000403412:A210D;ENSP00000370054:A210D;ENSP00000402640:A210D;ENSP00000323275:A210D;ENSP00000299561:A210D	ENSP00000323275:A210D	A	-	2	0	DYX1C1	53546428	0.325000	0.24660	0.857000	0.33713	0.049000	0.14656	1.805000	0.38883	2.309000	0.77851	0.563000	0.77884	GCT	DYX1C1	-	NULL	ENSG00000256061		0.279	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYX1C1	HGNC	protein_coding	OTTHUMT00000254976.1		0	28	0	G	NM_130810		55759136	-1			no_errors	ENST00000321149	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.895	T	T	55759136	G	T	55759136	3	4	38	1	0	0	0	0	1	0	0	0	4876	971	34	3	760	3	DYX1C1	15	55759136	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	21744115	55759136	46772256	129	9272											
SNRNP25	79622	genome.wustl.edu	37	chr16	105489	105489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtcaactcccaaataGccctagaatacggccaggca	16	5	8	12	1	1	2	1	0	0	2	2	2	2	2	3	2	3	1	3	2	8	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:105489G>T	ENST00000383018.3	+	2	261	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	SNRNP25_ENST00000493672.1_3'UTR|POLR3K_ENST00000293860.5_5'Flank	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	34					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)		p.A34S(1)		large_intestine(1)|lung(2)	3						CTCCCAAATAGCCCTAGAATA	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											207	180	189					16																	105489		2203	4300	6503	SO:0001583	missense	0			BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"U11/U12 snRNP 25K"		"chromosome 16 open reading frame 33"	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.100G>T	16.37:g.105489G>T	ENSP00000372482:p.Ala34Ser		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.A34S	ENST00000383018.3	37	c.100	CCDS10396.1	16	.	.	.	.	.	.	.	.	.	.	.	15.08	2.728610	0.48833	.	.	ENSG00000161981	ENST00000293861;ENST00000383018;ENST00000417493	.	.	.	5.58	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.61387	1.9	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.75918	-0.3148	9	0.48119	T	0.1	-14.2556	13.1714	0.59599	0.0772:0.0:0.9228:0.0	.	34	Q9BV90	SNR25_HUMAN	S	25;34;25	.	ENSP00000293861:A25S	A	+	1	0	SNRNP25	45489	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	8.545000	0.90657	1.379000	0.46325	-0.251000	0.11542	GCC	SNRNP25	-	NULL	ENSG00000161981		0.498	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNRNP25	HGNC	protein_coding			0	35	0	G	NM_024571		105489	1			no_errors	ENST00000383018	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	105489	G	T	105489	3	4	38	1	0	0	0	0	1	0	0	0	14898	971	34	3	106	3	SNRNP25	16	105489	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		105489	90249264	130	9273											
BAIAP3	8938	genome.wustl.edu	37	chr16	1391467	1391467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcagcaccctgaacccCgtctggaaggagcacttcct	11	6	10	14	1	1	2	0	1	1	1	2	4	2	4	4	2	4	3	4	2	3	1	rs147169956		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:1391467C>T	ENST00000324385.5	+	8	971	c.813C>T	c.(811-813)ccC>ccT	p.P271P	BAIAP3_ENST00000568887.1_Silent_p.P208P|BAIAP3_ENST00000426824.3_Silent_p.P236P|BAIAP3_ENST00000421665.2_Silent_p.P236P|BAIAP3_ENST00000562208.1_Silent_p.P213P|BAIAP3_ENST00000397489.1_Silent_p.P253P|BAIAP3_ENST00000397488.2_Silent_p.P253P	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	271	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCTGAACCCCGTCTGGAAGG	0.677																																																	0								C	,,,,	0,4396		0,0,2198	68	60	62		708,708,639,624,813	-5.2	0.5	16	dbSNP_134	62	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP3	NM_001199096.1,NM_001199097.1,NM_001199098.1,NM_001199099.1,NM_003933.4	,,,,	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	,,,,	236/1117,236/1153,213/1130,208/1125,271/1188	1391467	2,12988	2198	4297	6495	SO:0001819	synonymous_variant	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.813C>T	16.37:g.1391467C>T			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Silent	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P271	ENST00000324385.5	37	c.813	CCDS10434.1	16																																																																																			BAIAP3	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000007516		0.677	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	-	0	13	0	C			1391467	1	tier1	rs147169956	no_errors	ENST00000324385	ensembl	human	known	74_37	silent	78.95	4	15	SNP	0.241	T	T	1391467	C	T	1391467	2	4	38	1	0	0	0	0	0	0	0	1	1305	639	23	1		1	BAIAP3	16	1391467	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	1285978	1391467	88963286	131	9274											
CREBBP	1387	genome.wustl.edu	37	chr16	3820588	3820588	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccggtgtgccaggaggctGggcgtgcacaggcgtcggct	5	7	18	11	4	0	0	0	0	0	0	1	1	0	1	2	6	3	3	2	6	1	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:3820588G>A	ENST00000262367.5	-	14	3672	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q917*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	955					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCAGGAGGCTGGGCGTGCACA	0.587			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													130	158	149					16																	3820588		2197	4300	6497	SO:0001587	stop_gained	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2863C>T	16.37:g.3820588G>A	ENSP00000262367:p.Gln955*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q955*	ENST00000262367.5	37	c.2863	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	49	15.619671	0.99839	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.87	5.87	0.94306	.	0.079503	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-15.1014	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	955;985;917	.	ENSP00000262367:Q955X	Q	-	1	0	CREBBP	3760589	1.000000	0.71417	0.975000	0.42487	0.927000	0.56198	8.841000	0.92131	2.941000	0.99782	0.655000	0.94253	CAG	CREBBP	-	NULL	ENSG00000005339		0.587	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	43	0	G	NM_004380		3820588	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	nonsense	82.50	7	33	SNP	1.000	A	A	3820588	G	A	3820588	4	1	38	1	0	0	0	0	0	1	0	0	3868	1357	47	3	4537	3	CREBBP	16	3820588	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2429121	3820588	86534165	132	9275											
ZC3H7A	29066	genome.wustl.edu	37	chr16	11861320	11861320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttgtttttgttggtcttGgacgtatttttttccatgat	6	23	8	4	1	1	1	0	1	1	0	2	2	2	2	1	2	0	3	1	2	2	9			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:11861320G>T	ENST00000396516.2	-	12	1672	c.1475C>A	c.(1474-1476)cCa>cAa	p.P492Q	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.P492Q			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	492						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TGTTGGTCTTGGACGTATTTT	0.279																																																	0													142	136	138					16																	11861320		2196	4300	6496	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1475C>A	16.37:g.11861320G>T	ENSP00000379773:p.Pro492Gln		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P492Q	ENST00000396516.2	37	c.1475	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753344	0.89753	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.11277	2.79;2.79	5.77	5.77	0.91146	.	0.048145	0.85682	D	0.000000	T	0.36524	0.0970	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.03750	-1.1007	10	0.87932	D	0	.	18.9808	0.92755	0.0:0.0:1.0:0.0	.	213;492	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	Q	492	ENSP00000347999:P492Q;ENSP00000379773:P492Q	ENSP00000347999:P492Q	P	-	2	0	ZC3H7A	11768821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.729000	0.93468	0.467000	0.42956	CCA	ZC3H7A	-	NULL	ENSG00000122299		0.279	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	-	0	34	0	G	NM_014153		11861320	-1	tier1	-	no_errors	ENST00000355758	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	11861320	G	T	11861320	3	4	38	1	0	0	0	0	1	0	0	0	17620	1348	47	3	1484	3	ZC3H7A	16	11861320	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	8040732	11861320	78493433	133	9276											
DNAH3	55567	genome.wustl.edu	37	chr16	20981174	20981174	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcatgatgcagatgctctCcatgaccagtttgacagggc	9	12	10	10	0	2	4	1	3	1	1	3	4	2	4	2	1	2	3	2	1	0	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:20981174C>A	ENST00000261383.3	-	52	8397	c.8398G>T	c.(8398-8400)Gag>Tag	p.E2800*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2800	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGATGCTCTCCATGACCAGT	0.597																																																	0													149	130	137					16																	20981174		2201	4300	6501	SO:0001587	stop_gained	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8398G>T	16.37:g.20981174C>A	ENSP00000261383:p.Glu2800*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E2800*	ENST00000261383.3	37	c.8398	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	47	13.523846	0.99747	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.79	5.79	0.91817	.	0.132210	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0998	0.97870	0.0:1.0:0.0:0.0	.	.	.	.	X	2800	.	ENSP00000261383:E2800X	E	-	1	0	DNAH3	20888675	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	5.925000	0.70062	2.755000	0.94549	0.644000	0.83932	GAG	DNAH3	-	NULL	ENSG00000158486		0.597	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	74	0	C	NM_017539		20981174	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	A	A	20981174	C	A	20981174	4	1	38	1	0	0	0	0	0	1	0	0	4617	864	30	3	3995	3	DNAH3	16	20981174	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	9119854	20981174	69373579	134	9277											
RNF40	9810	genome.wustl.edu	37	chr16	30779971	30779971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccagaaggagatgaaaCtgctgctggatatgtacaag	15	7	13	6	0	0	4	0	1	0	3	0	6	0	5	1	2	5	3	1	2	5	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:30779971C>T	ENST00000324685.6	+	14	2446	c.2011C>T	c.(2011-2013)Ctg>Ttg	p.L671L	RNF40_ENST00000563683.1_Silent_p.L631L|RNF40_ENST00000357890.5_Silent_p.L571L|RNF40_ENST00000402121.3_Silent_p.L363L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	671					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGAGATGAAACTGCTGCTGGA	0.592																																																	0													66	65	65					16																	30779971		2197	4300	6497	SO:0001819	synonymous_variant	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2011C>T	16.37:g.30779971C>T			Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.L671	ENST00000324685.6	37	c.2011	CCDS10691.1	16																																																																																			RNF40	-	NULL	ENSG00000103549		0.592	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	-	0	27	0	C	NM_014771		30779971	1	tier1	-	no_errors	ENST00000324685	ensembl	human	known	74_37	silent	78.12	7	25	SNP	1.000	T	T	30779971	C	T	30779971	2	4	38	1	0	0	0	0	0	0	0	1	13538	564	20	3		3	RNF40	16	30779971	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	9798797	30779971	59574782	135	9278											
KIFC3	3801	genome.wustl.edu	37	chr16	57793062	57793062	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactctgcagccccagccgtCaggctgaaatcaaagtgaca	12	6	10	13	1	3	2	2	2	1	0	3	3	3	2	3	1	3	2	3	1	2	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:57793062C>T	ENST00000379655.4	-	19	2734				KIFC3_ENST00000543930.1_Silent_p.*685*|KIFC3_ENST00000540079.2_Silent_p.*725*|KIFC3_ENST00000445690.2_Silent_p.*827*|KIFC3_ENST00000541240.1_Silent_p.*849*|KIFC3_ENST00000562903.1_Silent_p.*688*|KIFC3_ENST00000465878.2_Silent_p.*688*|KIFC3_ENST00000421376.2_Silent_p.*688*|KIFC3_ENST00000539578.1_Silent_p.*769*	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCCCAGCCGTCAGGCTGAAAT	0.647																																																	0													24	36	32					16																	57793062		692	1590	2282	SO:0001627	intron_variant	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"Kinesins"	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.2477-241G>A	16.37:g.57793062C>T			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.*827	ENST00000379655.4	37	c.2480	CCDS10789.2	16																																																																																			KIFC3	-	NULL	ENSG00000140859		0.647	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2		0	106	0	C	NM_005550		57793062	-1			no_errors	ENST00000445690	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	57793062	C	T	57793062	1	4	38	0	1	0	0	0	0	0	0	0	8341	837	29	3		3	KIFC3	16	57793062	Intron	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	27013091	57793062	32561691	136	9279											
COG4	25839	genome.wustl.edu	37	chr16	70531202	70531202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagctggacagagccCgcccaatgcacttcttaaca	10	8	10	13	1	1	1	0	0	1	1	1	3	1	3	2	2	5	3	2	2	2	2	rs200052272		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:70531202C>T	ENST00000323786.5	-	11	1424	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	464					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GGACAGAGCCCGCCCAATGCA	0.532																																																	0													167	147	154					16																	70531202		2198	4300	6498	SO:0001583	missense	0			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1403G>A	16.37:g.70531202C>T	ENSP00000315775:p.Arg468Gln		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.R468Q	ENST00000323786.5	37	c.1403	CCDS10892.2	16	.	.	.	.	.	.	.	.	.	.	C	37	5.984007	0.97173	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000539961	T	0.67865	-0.29	5.98	5.98	0.97165	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.80597	0.4653	L	0.55017	1.72	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80464	-0.1371	10	0.87932	D	0	-18.798	20.4581	0.99154	0.0:1.0:0.0:0.0	.	374;463;464	Q8N8L9;Q6PIW8;Q9H9E3	.;.;COG4_HUMAN	Q	468;464;126	ENSP00000315775:R468Q	ENSP00000315775:R468Q	R	-	2	0	COG4	69088703	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.298000	0.78815	2.835000	0.97688	0.650000	0.86243	CGG	COG4	-	pfam_COG_su4,smart_COG_su4	ENSG00000103051		0.532	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3		0	23	0	C			70531202	-1			no_errors	ENST00000323786	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	70531202	C	T	70531202	3	4	38	1	0	0	0	0	1	0	0	0	3667	652	23	1	1002	1	COG4	16	70531202	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	12738140	70531202	19823551	137	9280											
ZFHX3	463	genome.wustl.edu	37	chr16	72993830	72993830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccttgctggcgggctcgGaggggggcccggccgacgcg	2	5	19	15	6	0	0	0	0	0	0	2	2	1	1	4	7	1	2	4	7	0	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr16:72993830G>T	ENST00000268489.5	-	2	887	c.215C>A	c.(214-216)tCc>tAc	p.S72Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	72			S -> A (in dbSNP:rs7193297). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCGGGCTCGGAGGGGGGCCC	0.701																																																	0													12	16	15					16																	72993830		2186	4285	6471	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.215C>A	16.37:g.72993830G>T	ENSP00000268489:p.Ser72Tyr		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S72Y	ENST00000268489.5	37	c.215	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	5.641	0.302884	0.10678	.	.	ENSG00000140836	ENST00000268489	T	0.73681	-0.77	5.11	5.11	0.69529	.	0.000000	0.49916	D	0.000135	T	0.67363	0.2885	N	0.14661	0.345	0.80722	D	1	D	0.59357	0.985	P	0.48921	0.595	T	0.69942	-0.5008	10	0.37606	T	0.19	.	18.5506	0.91063	0.0:0.0:1.0:0.0	.	72	Q15911	ZFHX3_HUMAN	Y	72	ENSP00000268489:S72Y	ENSP00000268489:S72Y	S	-	2	0	ZFHX3	71551331	0.674000	0.27549	0.999000	0.59377	0.207000	0.24258	3.878000	0.56130	2.379000	0.81126	0.462000	0.41574	TCC	ZFHX3	-	NULL	ENSG00000140836		0.701	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	51	0	G	NM_006885		72993830	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.996	T	T	72993830	G	T	72993830	3	4	38	1	0	0	0	0	1	0	0	0	17682	1174	41	3	10932	3	ZFHX3	16	72993830	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2462628	72993830	17360923	138	9281											
DNAH9	1770	genome.wustl.edu	37	chr17	11797759	11797759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgatctccagtgcagacGggcaccgccagccccgtgga	7	6	12	16	4	1	1	0	0	1	1	3	3	1	2	5	2	2	2	5	2	0	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr17:11797759G>A	ENST00000262442.4	+	59	11420	c.11352G>A	c.(11350-11352)acG>acA	p.T3784T	DNAH9_ENST00000608377.1_Silent_p.T96T|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Silent_p.T3784T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3784					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTGCAGACGGGCACCGCCA	0.512																																																	0													89	89	89					17																	11797759		2203	4300	6503	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11352G>A	17.37:g.11797759G>A			A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T3784	ENST00000262442.4	37	c.11352	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	43	0	G	NM_001372		11797759	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	silent	25.81	46	16	SNP	0.766	A	A	11797759	G	A	11797759	2	1	38	1	0	0	0	0	0	0	0	1	4622	1103	39	1		1	DNAH9	17	11797759	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		11797759	69397451	139	9282											
KIAA0100	9703	genome.wustl.edu	37	chr17	26959178	26959178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcagataggccttgtGacacttgtccaagttgccca	8	10	9	14	0	0	2	0	1	0	1	1	2	1	2	5	1	2	2	5	1	2	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr17:26959178G>T	ENST00000528896.2	-	21	3959	c.3885C>A	c.(3883-3885)gtC>gtA	p.V1295V	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.V1152V|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.V1152V	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1295						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TAGGCCTTGTGACACTTGTCC	0.468																																																	0													215	202	206					17																	26959178		2203	4300	6503	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3885C>A	17.37:g.26959178G>T			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.V1295	ENST00000528896.2	37	c.3885	CCDS32595.1	17																																																																																			KIAA0100	-	NULL	ENSG00000007202		0.468	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	-	0	64	0	G	NM_014680		26959178	-1	tier1	-	no_errors	ENST00000528896	ensembl	human	known	74_37	silent	6.49	72	5	SNP	0.922	T	T	26959178	G	T	26959178	2	4	38	1	0	0	0	0	0	0	0	1	8181	1277	45	3		3	KIAA0100	17	26959178	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	15161419	26959178	54236032	140	9283											
CALCOCO2	10241	genome.wustl.edu	37	chr17	46937763	46937763	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctacttcagatgaaGgaggcgcaagacaaaatcca	17	6	9	9	1	1	3	1	1	0	2	2	4	2	4	2	2	2	2	2	2	7	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr17:46937763G>T	ENST00000258947.3	+	11	1197	c.1096G>T	c.(1096-1098)Gga>Tga	p.G366*	CALCOCO2_ENST00000509507.1_Nonsense_Mutation_p.G387*|CALCOCO2_ENST00000508679.1_Nonsense_Mutation_p.G294*|CALCOCO2_ENST00000416445.2_Nonsense_Mutation_p.G324*|CALCOCO2_ENST00000448105.2_Nonsense_Mutation_p.G390*	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	366					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTCAGATGAAGGAGGCGCAAG	0.458																																																	0													123	117	119					17																	46937763		2203	4300	6503	SO:0001587	stop_gained	0			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.1096G>T	17.37:g.46937763G>T	ENSP00000258947:p.Gly366*		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Nonsense_Mutation	SNP	pfam_CoCoA	p.G366*	ENST00000258947.3	37	c.1096	CCDS11538.1	17	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470960	0.43942	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000416445;ENST00000508679	.	.	.	5.56	2.43	0.29744	.	0.804992	0.11068	N	0.603297	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-0.6	5.0411	0.14460	0.1836:0.1743:0.6421:0.0	.	.	.	.	X	366;387;390;324;294	.	ENSP00000258947:G366X	G	+	1	0	CALCOCO2	44292762	0.012000	0.17670	0.026000	0.17262	0.016000	0.09150	0.377000	0.20552	0.677000	0.31305	0.650000	0.86243	GGA	CALCOCO2	-	NULL	ENSG00000136436		0.458	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCOCO2	HGNC	protein_coding	OTTHUMT00000360866.1	-	0	51	0	G	NM_005831		46937763	1	tier1	-	no_errors	ENST00000258947	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.001	T	T	46937763	G	T	46937763	4	4	38	1	0	0	0	0	0	1	0	0	2585	1001	35	3	1134	3	CALCOCO2	17	46937763	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	19978585	46937763	34257447	141	9284											
PPM1E	22843	genome.wustl.edu	37	chr17	57049601	57049601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagaaagggccaagctGttgaactaatgaagccacac	14	8	11	8	0	0	3	0	3	0	1	0	4	0	3	2	1	3	2	2	1	5	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr17:57049601G>T	ENST00000308249.2	+	5	1210	c.1081G>T	c.(1081-1083)Gtt>Ttt	p.V361F		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	86					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GGGCCAAGCTGTTGAACTAAT	0.443																																																	0													111	99	103					17																	57049601		2203	4300	6503	SO:0001583	missense	0			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19322	protein-coding gene	gene with protein product	"partner of PIX 1", "nuclear calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1E (PP2C domain containing)"			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.1081G>T	17.37:g.57049601G>T	ENSP00000312411:p.Val361Phe		Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.V361F	ENST00000308249.2	37	c.1081	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953496	0.92660	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.10573	2.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.975;0.996	T	0.06935	-1.0799	10	0.54805	T	0.06	-18.6608	18.8738	0.92327	0.0:0.0:1.0:0.0	.	370;361	Q8WY54-3;Q8WY54-2	.;.	F	361;212	ENSP00000312411:V361F	ENSP00000312411:V361F	V	+	1	0	PPM1E	54404383	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.869000	0.99810	2.441000	0.82636	0.462000	0.41574	GTT	PPM1E	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000175175		0.443	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	-	0	52	0	G	NM_014906		57049601	1	tier1	-	no_errors	ENST00000308249	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	57049601	G	T	57049601	3	4	38	1	0	0	0	0	1	0	0	0	12380	1377	48	3	1099	3	PPM1E	17	57049601	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	10111838	57049601	24145609	142	9285											
KIF19	124602	genome.wustl.edu	37	chr17	72324594	72324594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtccggcccatcagcgtgGcagagctggaggaaggagct	8	5	18	10	2	1	1	1	0	0	1	2	4	2	4	2	6	3	3	2	6	1	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr17:72324594G>T	ENST00000389916.4	+	2	208	c.70G>T	c.(70-72)Gca>Tca	p.A24S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	24	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CATCAGCGTGGCAGAGCTGGA	0.617																																																	0													49	44	46					17																	72324594		2203	4299	6502	SO:0001583	missense	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.70G>T	17.37:g.72324594G>T	ENSP00000374566:p.Ala24Ser		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.A24S	ENST00000389916.4	37	c.70	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344160	0.41498	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74315	-0.6;-0.83	4.96	1.52	0.23074	Kinesin, motor domain (4);	0.283859	0.18804	U	0.130709	T	0.42585	0.1209	N	0.01576	-0.805	0.38679	D	0.952503	B;B;B;B	0.11235	0.003;0.004;0.0;0.0	B;B;B;B	0.21151	0.009;0.033;0.008;0.003	T	0.25467	-1.0131	10	0.25751	T	0.34	.	6.7996	0.23744	0.0864:0.0:0.6091:0.3044	.	24;24;24;24	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	S	24	ENSP00000449134:A24S;ENSP00000374566:A24S	ENSP00000374566:A24S	A	+	1	0	KIF19	69836189	0.994000	0.37717	0.999000	0.59377	0.998000	0.95712	1.573000	0.36472	1.072000	0.40860	0.650000	0.86243	GCA	KIF19	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000196169		0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	-	0	46	0	G	NM_153209		72324594	1	tier1	-	no_errors	ENST00000389916	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.992	T	T	72324594	G	T	72324594	3	4	38	1	0	0	0	0	1	0	0	0	8309	1203	42	3	76	3	KIF19	17	72324594	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	15274993	72324594	8870616	143	9286											
MGAT5B	146664	genome.wustl.edu	37	chr17	74942515	74942515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctggagcggatccacGcctacatccagcaccaggtc	9	6	12	14	2	0	0	0	0	0	0	3	3	2	3	4	4	4	2	4	4	1	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr17:74942515G>T	ENST00000569840.2	+	16	2480	c.1906G>T	c.(1906-1908)Gcc>Tcc	p.A636S	MGAT5B_ENST00000428789.2_Missense_Mutation_p.A645S|MGAT5B_ENST00000301618.4_Missense_Mutation_p.A634S	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	636					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.A634S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGATCCACGCCTACATCCA	0.642																																																	1	Substitution - Missense(1)	lung(1)											86	61	69					17																	74942515		2203	4300	6503	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1906G>T	17.37:g.74942515G>T	ENSP00000456037:p.Ala636Ser		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.A645S	ENST00000569840.2	37	c.1933	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946304	0.92593	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.48201	0.83;0.82	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.71104	-0.4689	10	0.62326	D	0.03	-27.3562	16.8173	0.85737	0.0:0.0:1.0:0.0	.	41;645;634	Q3V5L5-4;Q3V5L5-2;Q3V5L5-5	.;.;.	S	634;645	ENSP00000301618:A634S;ENSP00000391227:A645S	ENSP00000301618:A634S	A	+	1	0	MGAT5B	72454110	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.800000	0.85949	2.202000	0.70862	0.563000	0.77884	GCC	MGAT5B	-	NULL	ENSG00000167889		0.642	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2		0	49	0	G	NM_144677		74942515	1			no_errors	ENST00000428789	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	74942515	G	T	74942515	3	4	38	1	0	0	0	0	1	0	0	0	9587	1087	38	2	2059	2	MGAT5B	17	74942515	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2617921	74942515	6252695	144	9287											
DTNA	1837	genome.wustl.edu	37	chr18	32418785	32418785	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtatgtcaacatgctcCggaacaacccctcatggtta	10	11	9	11	1	2	0	2	0	0	0	3	1	3	1	3	3	4	4	3	3	5	3	rs199867593		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr18:32418785C>A	ENST00000399113.3	+	12	1249	c.1249C>A	c.(1249-1251)Cgg>Agg	p.R417R	DTNA_ENST00000399121.5_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000269192.7_Silent_p.R126R|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000444659.1_Silent_p.R417R|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000269191.6_Silent_p.R417R|DTNA_ENST00000348997.5_Silent_p.R414R|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000399097.3_Intron|DTNA_ENST00000269190.7_Silent_p.R418R|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000597674.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	417	Syntrophin-binding region.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R418W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAACATGCTCCGGAACAACCC	0.512																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											176	129	145					18																	32418785		2203	4300	6503	SO:0001819	synonymous_variant	0			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1249C>A	18.37:g.32418785C>A			A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R418	ENST00000399113.3	37	c.1252	CCDS59311.1	18																																																																																			DTNA	-	pirsf_Distrobrevin	ENSG00000134769		0.512	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2		0	43	0	C	NM_001390		32418785	1			no_errors	ENST00000269190	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	A	A	32418785	C	A	32418785	2	1	38	1	0	0	0	0	0	0	0	1	4802	643	23	2		2	DTNA	18	32418785	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09		32418785	45658463	145	9288											
PQLC1	80148	genome.wustl.edu	37	chr18	77710831	77710831	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgatactgcgggacgtaGggcaccacccctccgaagac	9	5	11	16	4	0	1	0	0	0	1	2	4	2	2	5	2	2	2	5	2	3	2	rs201497747		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr18:77710831G>T	ENST00000397778.2	-	2	278	c.96C>A	c.(94-96)ccC>ccA	p.P32P	PQLC1_ENST00000409073.1_5'Flank|PQLC1_ENST00000357575.4_Silent_p.P32P|PQLC1_ENST00000590381.1_Silent_p.P32P	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	32	PQ-loop 1.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GCGGGACGTAGGGCACCACCC	0.667																																																	0													49	43	45					18																	77710831		2201	4299	6500	SO:0001819	synonymous_variant	0			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.96C>A	18.37:g.77710831G>T			B7Z7D9|G5E989|Q9H6D0	Silent	SNP	smart_CTNS	p.P32	ENST00000397778.2	37	c.96	CCDS12020.1	18																																																																																			PQLC1	-	smart_CTNS	ENSG00000122490		0.667	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PQLC1	HGNC	protein_coding	OTTHUMT00000256434.1	-	0	34	0	G	NM_025078		77710831	-1	tier1	rs201497747	no_errors	ENST00000397778	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.499	T	T	77710831	G	T	77710831	2	4	38	1	0	0	0	0	0	0	0	1	12460	987	35	3		3	PQLC1	18	77710831	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	45292046	77710831	366417	146	9289											
LMNB2	84823	genome.wustl.edu	37	chr19	2456775	2456775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgccaggcggtcgttgaGctcgcgcagctcctccttct	3	10	13	15	5	1	1	0	1	1	0	5	1	3	1	3	2	3	4	3	2	0	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:2456775G>T	ENST00000582871.1	-	1	183	c.97C>A	c.(97-99)Ctc>Atc	p.L33I	LMNB2_ENST00000325327.3_Missense_Mutation_p.L53I|AC005624.2_ENST00000587826.1_lincRNA	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	33	Coil 1A.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGTCGTTGAGCTCGCGCAGC	0.721																																																	0													12	11	11					19																	2456775		2154	4223	6377	SO:0001583	missense	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.97C>A	19.37:g.2456775G>T	ENSP00000462730:p.Leu33Ile		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.L53I	ENST00000582871.1	37	c.157		19	.	.	.	.	.	.	.	.	.	.	g	34	5.295256	0.95574	.	.	ENSG00000176619	ENST00000325327	.	.	.	3.32	3.32	0.38043	Filament (1);	0.078225	0.51477	U	0.000081	D	0.86318	0.5904	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90506	0.4477	9	0.87932	D	0	.	13.3971	0.60861	0.0:0.0:1.0:0.0	.	33	Q03252	LMNB2_HUMAN	I	33	.	ENSP00000327054:L33I	L	-	1	0	LMNB2	2407775	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.673000	0.91186	1.718000	0.51419	0.299000	0.19835	CTC	LMNB2	-	pfam_IF	ENSG00000176619		0.721	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		-	0	16	0	G	NM_032737		2456775	-1	tier1	-	no_errors	ENST00000325327	ensembl	human	known	74_37	missense	57.14	3	4	SNP	1.000	T	T	2456775	G	T	2456775	3	4	38	1	0	0	0	0	1	0	0	0	8880	971	34	3	1753	3	LMNB2	19	2456775	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		2456775	56672208	147	9290											
CLEC4G	339390	genome.wustl.edu	37	chr19	7794764	7794764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaccttgcccagatggCgcacagccctcaggcccagc	8	5	10	18	1	1	2	1	1	0	1	1	2	1	2	5	2	4	1	5	2	1	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:7794764C>T	ENST00000328853.5	-	8	754	c.686G>A	c.(685-687)cGc>cAc	p.R229H	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	229	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GCCCAGATGGCGCACAGCCCT	0.637																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												0													66	61	63					19																	7794764		2203	4300	6503	SO:0001583	missense	0			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.686G>A	19.37:g.7794764C>T	ENSP00000327599:p.Arg229His			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.R229H	ENST00000328853.5	37	c.686	CCDS12185.1	19	.	.	.	.	.	.	.	.	.	.	C	19.39	3.817601	0.70912	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.01106	5.33	5.53	4.49	0.54785	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.38058	N	0.001830	T	0.03263	0.0095	L	0.33245	0.995	0.23162	N	0.998193	D	0.89917	1.0	D	0.70227	0.968	T	0.38908	-0.9639	10	0.56958	D	0.05	.	12.1708	0.54157	0.171:0.829:0.0:0.0	.	229	Q6UXB4	CLC4G_HUMAN	H	229;113	ENSP00000327599:R229H	ENSP00000327599:R229H	R	-	2	0	CLEC4G	7700764	0.062000	0.20869	0.447000	0.26932	0.121000	0.20230	0.799000	0.27028	1.455000	0.47813	-0.261000	0.10672	CGC	CLEC4G	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000182566		0.637	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	HGNC	protein_coding	OTTHUMT00000461989.1		0	80	0	C	NM_198492		7794764	-1			no_errors	ENST00000328853	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.423	T	T	7794764	C	T	7794764	3	4	38	1	0	0	0	0	1	0	0	0	3524	768	27	1	203	1	CLEC4G	19	7794764	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	5337989	7794764	51334219	148	9291											
ICAM5	7087	genome.wustl.edu	37	chr19	10402942	10402942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccaggcagctggtctGcaacgtcaccctggggggcg	5	6	18	12	2	2	0	1	0	1	0	2	0	2	0	2	6	4	3	2	6	1	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:10402942G>A	ENST00000221980.4	+	4	968	c.905G>A	c.(904-906)tGc>tAc	p.C302Y		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	302	Ig-like C2-type 3.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CAGCTGGTCTGCAACGTCACC	0.642																																																	0													35	28	30					19																	10402942		2203	4299	6502	SO:0001583	missense	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.905G>A	19.37:g.10402942G>A	ENSP00000221980:p.Cys302Tyr		Q9Y6F3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.C302Y	ENST00000221980.4	37	c.905	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537848	0.85917	.	.	ENSG00000105376	ENST00000221980	T	0.79845	-1.31	5.54	5.54	0.83059	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.85093	0.5618	M	0.85630	2.765	0.48452	D	0.999654	P	0.39831	0.69	B	0.43360	0.417	D	0.87402	0.2370	10	0.87932	D	0	-34.394	15.0337	0.71728	0.0:0.0:1.0:0.0	.	302	Q9UMF0	ICAM5_HUMAN	Y	302	ENSP00000221980:C302Y	ENSP00000221980:C302Y	C	+	2	0	ICAM5	10263942	0.999000	0.42202	0.997000	0.53966	0.730000	0.41778	4.877000	0.63086	2.635000	0.89317	0.485000	0.47835	TGC	ICAM5	-	NULL	ENSG00000105376		0.642	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0	155	0	G	NM_003259		10402942	1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	missense	11.76	75	10	SNP	1.000	A	A	10402942	G	A	10402942	3	1	38	1	0	0	0	0	1	0	0	0	7510	1319	46	3	919	3	ICAM5	19	10402942	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2608178	10402942	48726041	149	9292											
CACNA1A	773	genome.wustl.edu	37	chr19	13342533	13342533	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagactcaccagaaacgaGcagaggaagatgaaggaaac	19	2	11	9	1	1	5	1	1	0	4	1	8	1	7	1	2	3	1	1	2	4	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:13342533G>T	ENST00000360228.5	-	35	5390	c.5391C>A	c.(5389-5391)tgC>tgA	p.C1797*	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Nonsense_Mutation_p.C1798*	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1798					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGAAACGAGCAGAGGAAGA	0.517																																																	0													67	68	67					19																	13342533		2006	4182	6188	SO:0001587	stop_gained	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5391C>A	19.37:g.13342533G>T	ENSP00000353362:p.Cys1797*		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.C1797*	ENST00000360228.5	37	c.5391	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	45	11.913749	0.99617	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	.	.	.	4.61	1.3	0.21679	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1472	0.20293	0.4456:0.0:0.5544:0.0	.	.	.	.	X	1797;1803;1798;1798	.	ENSP00000317661:C1798X	C	-	3	2	CACNA1A	13203533	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.227000	0.32576	0.930000	0.37217	0.555000	0.69702	TGC	CACNA1A	-	pfam_Ion_trans_dom	ENSG00000141837		0.517	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	41	0	G	NM_000068		13342533	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T	T	13342533	G	T	13342533	4	4	38	1	0	0	0	0	0	1	0	0	2545	963	34	3	2282	3	CACNA1A	19	13342533	Nonsense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2939591	13342533	45786450	150	9293											
ASF1B	55723	genome.wustl.edu	37	chr19	14231429	14231429	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgttgttgtcccagttgaTatggaagcgggtcacccggg	7	11	14	9	2	1	1	1	1	0	0	2	2	2	2	2	3	1	3	2	3	2	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:14231429T>G	ENST00000263382.3	-	4	950	c.451A>C	c.(451-453)Atc>Ctc	p.I151L	PRKACA_ENST00000590853.1_5'Flank|PRKACA_ENST00000308677.4_5'Flank|CTB-55O6.10_ENST00000590715.1_RNA|ASF1B_ENST00000592798.1_Missense_Mutation_p.I92L	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	151	Interaction with CHAF1B.|Interaction with histone H3. {ECO:0000250}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						TCCCAGTTGATATGGAAGCGG	0.607																																																	0													74	64	67					19																	14231429		2203	4300	6503	SO:0001583	missense	0			AF279307	CCDS12306.1	19p13.12	2013-05-01	2013-05-01		ENSG00000105011	ENSG00000105011			20996	protein-coding gene	gene with protein product		609190	"ASF1 anti-silencing function 1 homolog B (S. cerevisiae)"			11897662, 11470414	Standard	NM_018154		Approved	FLJ10604	uc002mye.3	Q9NVP2	OTTHUMG00000150401	ENST00000263382.3:c.451A>C	19.37:g.14231429T>G	ENSP00000263382:p.Ile151Leu		Q53G51|Q9NVZ0	Missense_Mutation	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.I151L	ENST00000263382.3	37	c.451	CCDS12306.1	19	.	.	.	.	.	.	.	.	.	.	T	35	5.511404	0.96386	.	.	ENSG00000105011	ENST00000263382	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89615	0.6766	H	0.95645	3.7	0.80722	D	1	P	0.39326	0.668	D	0.74674	0.984	D	0.91378	0.5125	9	0.87932	D	0	.	14.107	0.65096	0.0:0.0:0.0:1.0	.	151	Q9NVP2	ASF1B_HUMAN	L	151	.	ENSP00000263382:I151L	I	-	1	0	ASF1B	14092429	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.680000	0.84062	2.209000	0.71365	0.533000	0.62120	ATC	ASF1B	-	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	ENSG00000105011		0.607	ASF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1B	HGNC	protein_coding	OTTHUMT00000317946.1	-	0	57	0	T	NM_018154		14231429	-1	tier1	-	no_errors	ENST00000263382	ensembl	human	known	74_37	missense	69.77	13	30	SNP	1.000	G	G	14231429	T	G	14231429	3	3	38	1	0	0	0	0	1	0	0	0	1039	1406	49	4	161	4	ASF1B	19	14231429	Missense_Mutation	SNP	T	TCGA-JY-A6FE-01A-11D-A33E-09	888896	14231429	44897554	151	9294											
UPF1	5976	genome.wustl.edu	37	chr19	18968316	18968316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccaacatcttctacgaggGctccctccagaatggtgtca	10	10	8	13	1	3	1	1	0	2	1	6	2	6	1	3	2	2	1	3	2	3	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:18968316G>A	ENST00000599848.1	+	15	2398	c.2189G>A	c.(2188-2190)gGc>gAc	p.G730D	UPF1_ENST00000262803.5_Missense_Mutation_p.G719D			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	730					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTCTACGAGGGCTCCCTCCAG	0.627																																																	0													38	36	37					19																	18968316		2203	4300	6503	SO:0001583	missense	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2189G>A	19.37:g.18968316G>A	ENSP00000470142:p.Gly730Asp		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.G730D	ENST00000599848.1	37	c.2189		19	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866447	0.91511	.	.	ENSG00000005007	ENST00000262803	D	0.93488	-3.23	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.972	D	0.97431	1.0015	10	0.87932	D	0	-41.2005	16.3833	0.83489	0.0:0.0:1.0:0.0	.	730;719	Q92900;Q92900-2	RENT1_HUMAN;.	D	719	ENSP00000262803:G719D	ENSP00000262803:G719D	G	+	2	0	UPF1	18829316	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.369000	0.97156	2.218000	0.71995	0.561000	0.74099	GGC	UPF1	-	superfamily_P-loop_NTPase	ENSG00000005007		0.627	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1		0	62	0	G	NM_002911		18968316	1			no_errors	ENST00000599848	ensembl	human	known	74_37	missense	6.45	56	4	SNP	1.000	A	A	18968316	G	A	18968316	3	1	38	1	0	0	0	0	1	0	0	0	17052	1203	42	3	2214	3	UPF1	19	18968316	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	4736887	18968316	40160667	152	9295											
ZNF383	163087	genome.wustl.edu	37	chr19	37721365	37721365	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactagaagccatggctgagGtgagttgatgctttttcttg	8	15	12	6	0	1	4	0	3	1	1	1	4	1	4	1	2	3	3	1	2	3	6			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:37721365G>T	ENST00000589413.1	+	5	592		c.e5+1		ZNF383_ENST00000590503.1_Splice_Site|ZNF383_ENST00000352998.3_Splice_Site			Q8NA42	ZN383_HUMAN	zinc finger protein 383						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATGGCTGAGGTGAGTTGATG	0.408																																																	0													154	131	138					19																	37721365		2203	4300	6503	SO:0001630	splice_region_variant	0			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.9+1G>T	19.37:g.37721365G>T			Q6X2C7	Splice_Site	SNP	-	e1+1	ENST00000589413.1	37	c.9+1	CCDS12501.1	19	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685247	0.47991	.	.	ENSG00000188283	ENST00000352998	.	.	.	2.88	2.88	0.33553	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4666	0.38817	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF383	42413205	1.000000	0.71417	0.793000	0.32043	0.519000	0.34347	2.150000	0.42254	1.936000	0.56123	0.462000	0.41574	.	ZNF383	-	-	ENSG00000188283		0.408	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	-	0	34	0	G	NM_152604	Intron	37721365	1	tier1	-	no_errors	ENST00000352998	ensembl	human	known	74_37	splice_site	10.81	33	4	SNP	0.824	T	T	37721365	G	T	37721365	5	4	38	1	0	0	0	0	0	0	1	0	17922	1275	44	3	12	3	ZNF383	19	37721365	Splice_Site	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	18753049	37721365	21407618	153	9296											
ZNF546	339327	genome.wustl.edu	37	chr19	40521651	40521651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttactttacatcagaGaaatcatattagtgaggaag	16	12	7	6	0	3	2	3	1	0	1	3	4	3	3	0	1	3	0	0	1	7	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:40521651G>T	ENST00000347077.4	+	7	2690	c.2474G>T	c.(2473-2475)aGa>aTa	p.R825I	ZNF546_ENST00000600094.1_Missense_Mutation_p.R799I|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	825					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R825I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTACATCAGAGAAATCATATT	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)											49	52	51					19																	40521651		2203	4299	6502	SO:0001583	missense	0			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2474G>T	19.37:g.40521651G>T	ENSP00000339823:p.Arg825Ile		A8K913	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R825I	ENST00000347077.4	37	c.2474	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	g	11.80	1.747164	0.30955	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.10005	2.92	2.95	0.804	0.18697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11495	0.0280	M	0.76002	2.32	0.37656	D	0.922592	B	0.33379	0.41	B	0.26770	0.073	T	0.09037	-1.0693	9	0.87932	D	0	.	6.4023	0.21646	0.2699:0.0:0.7301:0.0	.	825	Q86UE3	ZN546_HUMAN	I	825;434	ENSP00000339823:R825I	ENSP00000339823:R825I	R	+	2	0	ZNF546	45213491	.	.	0.967000	0.41034	0.981000	0.71138	.	.	0.277000	0.22141	0.655000	0.94253	AGA	ZNF546	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187187		0.333	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2		0	25	0	G	NM_178544		40521651	1			no_errors	ENST00000347077	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	40521651	G	T	40521651	3	4	38	1	0	0	0	0	1	0	0	0	18026	942	33	3	2492	3	ZNF546	19	40521651	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	2800286	40521651	18607332	154	9297											
PHLDB3	653583	genome.wustl.edu	37	chr19	43999428	43999428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttagtgagggccgggttggGctcagagaagtccccgccag	7	7	16	11	2	1	2	1	1	0	1	2	3	2	2	4	3	0	2	4	3	2	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:43999428G>A	ENST00000292140.5	-	8	1375	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	339							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCCGGGTTGGGCTCAGAGAAG	0.577																																																	0													45	50	48					19																	43999428		2018	4170	6188	SO:0001583	missense	0				CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"Pleckstrin homology (PH) domain containing"	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1015C>T	19.37:g.43999428G>A	ENSP00000292140:p.Pro339Ser		Q8N7Z4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P339S	ENST00000292140.5	37	c.1015	CCDS12621.2	19	.	.	.	.	.	.	.	.	.	.	G	4.915	0.170049	0.09339	.	.	ENSG00000176531	ENST00000292140	T	0.48201	0.82	3.85	-0.0113	0.13993	.	.	.	.	.	T	0.27349	0.0671	N	0.17082	0.46	0.20563	N	0.999882	B;B	0.13594	0.0;0.008	B;B	0.11329	0.005;0.006	T	0.18335	-1.0340	9	0.34782	T	0.22	.	6.0096	0.19567	0.4143:0.0:0.5857:0.0	.	43;339	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	S	339	ENSP00000292140:P339S	ENSP00000292140:P339S	P	-	1	0	PHLDB3	48691268	0.692000	0.27719	0.364000	0.25888	0.184000	0.23303	0.160000	0.16462	0.100000	0.17581	0.585000	0.79938	CCC	PHLDB3	-	NULL	ENSG00000176531		0.577	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB3	HGNC	protein_coding	OTTHUMT00000319643.2	-	0	58	0	G			43999428	-1	tier1	-	no_errors	ENST00000292140	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.381	A	A	43999428	G	A	43999428	3	1	38	1	0	0	0	0	1	0	0	0	11892	1203	42	3	943	3	PHLDB3	19	43999428	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	3477777	43999428	15129555	155	9298											
HIF3A	64344	genome.wustl.edu	37	chr19	46832499	46832499	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggagatgctggccccCtacatctccatggatgatga	9	11	11	10	0	1	3	0	2	1	1	2	6	1	4	3	3	2	1	3	3	1	2			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:46832499C>G	ENST00000377670.4	+	12	1507	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P	HIF3A_ENST00000244303.6_Silent_p.P423P|HIF3A_ENST00000600383.1_Silent_p.P423P|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000339613.2_Silent_p.P436P|HIF3A_ENST00000420102.2_Silent_p.P441P|HIF3A_ENST00000300862.3_Silent_p.P490P|AC007193.10_ENST00000596807.1_RNA	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	492	NTAD.|ODD.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCTGGCCCCCTACATCTCCA	0.622																																																	0													83	76	78					19																	46832499		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"Basic helix-loop-helix proteins"	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1476C>G	19.37:g.46832499C>G			B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.P492	ENST00000377670.4	37	c.1476	CCDS12681.2	19																																																																																			HIF3A	-	pfam_HIF_alpha_subunit	ENSG00000124440		0.622	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	-	0	37	0	C			46832499	1	tier1	-	no_errors	ENST00000377670	ensembl	human	known	74_37	silent	72.34	13	34	SNP	0.997	G	G	46832499	C	G	46832499	2	3	38	1	0	0	0	0	0	0	0	1	7132	668	24	5		5	HIF3A	19	46832499	Silent	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	2833071	46832499	12296484	156	9299											
ZNF616	90317	genome.wustl.edu	37	chr19	52618714	52618714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccactatgaattctcCgatgcactgtaagacgtgaa	11	12	7	11	2	2	3	0	2	2	1	5	4	3	3	2	0	1	2	2	0	4	3	rs1045852		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:52618714C>A	ENST00000600228.1	-	4	1964	c.1703G>T	c.(1702-1704)cGg>cTg	p.R568L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATGAATTCTCCGATGCACTGT	0.433																																																	0													114	100	104					19																	52618714		2203	4300	6503	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1703G>T	19.37:g.52618714C>A	ENSP00000471000:p.Arg568Leu		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R568L	ENST00000600228.1	37	c.1703	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	C	5.738	0.320593	0.10845	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	N	0.01771	-0.73	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.21042	-1.0257	8	0.56958	D	0.05	.	5.7839	0.18322	0.0:0.33:0.0:0.67	rs1045852;rs1045852	568	Q08AN1	ZN616_HUMAN	L	568	.	ENSP00000328722:R568L	R	-	2	0	ZNF616	57310526	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-1.766000	0.01797	-0.667000	0.05303	-0.680000	0.03767	CGG	ZNF616	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204611		0.433	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1		0	17	0	C	XM_030892		52618714	-1			no_errors	ENST00000600228	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.042	A	A	52618714	C	A	52618714	3	1	38	1	0	0	0	0	1	0	0	0	18089	652	23	2	646	2	ZNF616	19	52618714	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	5786215	52618714	6510269	157	9300											
ZNF528	84436	genome.wustl.edu	37	chr19	52909833	52909833	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagagatccctggactctgCagagtgaagagaaaatagca	16	6	12	7	0	1	5	0	1	1	4	2	8	2	6	1	1	2	2	1	1	4	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:52909833C>T	ENST00000360465.3	+	6	634	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	ZNF528_ENST00000598192.1_Nonsense_Mutation_p.Q70*|ZNF528_ENST00000594530.1_Nonsense_Mutation_p.Q70*|ZNF528_ENST00000391788.2_Nonsense_Mutation_p.Q60*	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTGGACTCTGCAGAGTGAAGA	0.473																																																	0													109	105	106					19																	52909833		2203	4300	6503	SO:0001587	stop_gained	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.208C>T	19.37:g.52909833C>T	ENSP00000353652:p.Gln70*		B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q70*	ENST00000360465.3	37	c.208	CCDS33091.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.403008|4.403008	0.83230|0.83230	.|.	.|.	ENSG00000167555|ENSG00000167555	ENST00000448954|ENST00000391788;ENST00000391787;ENST00000360465	.|.	.|.	.|.	1.89|1.89	-1.29|-1.29	0.09288|0.09288	.|.	.|.	.|.	.|.	.|.	T|.	0.25044|.	0.0608|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41016|.	-0.9532|.	3|.	.|0.13853	.|T	.|0.58	.|.	7.4141|7.4141	0.27034|0.27034	0.0:0.5046:0.4954:0.0|0.0:0.5046:0.4954:0.0	.|.	.|.	.|.	.|.	V|X	39|60;70;70	.|.	.|ENSP00000353652:Q70X	A|Q	+|+	2|1	0|0	ZNF528|ZNF528	57601645|57601645	0.006000|0.006000	0.16342|0.16342	0.001000|0.001000	0.08648|0.08648	0.028000|0.028000	0.11728|0.11728	-0.044000|-0.044000	0.12023|0.12023	-0.347000|-0.347000	0.08299|0.08299	0.313000|0.313000	0.20887|0.20887	GCA|CAG	ZNF528	-	pfscan_Krueppel-associated_box	ENSG00000167555		0.473	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	-	0	66	0	C	NM_032423		52909833	1	tier1	-	no_errors	ENST00000360465	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.000	T	T	52909833	C	T	52909833	4	4	38	1	0	0	0	0	0	1	0	0	18017	711	25	3	218	3	ZNF528	19	52909833	Nonsense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	291119	52909833	6219150	158	9301											
PEG3	5178	genome.wustl.edu	37	chr19	57325172	57325172	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgctggcacgttcGatgtagcctgagcactcccc	5	10	13	13	2	0	1	0	1	0	0	2	2	1	1	3	2	4	6	3	2	1	2	rs189053356		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr19:57325172G>T	ENST00000326441.9	-	10	5001	c.4638C>A	c.(4636-4638)atC>atA	p.I1546I	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.I1546I|PEG3_ENST00000593695.1_Silent_p.I1420I|PEG3_ENST00000598410.1_Silent_p.I1422I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1546					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I1546M(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCACGTTCGATGTAGCCTG	0.517																																																	2	Substitution - Missense(2)	lung(2)											151	129	137					19																	57325172		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4638C>A	19.37:g.57325172G>T			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.I1546	ENST00000326441.9	37	c.4638	CCDS12948.1	19																																																																																			PEG3	-	NULL	ENSG00000198300		0.517	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2		0	31	0	G			57325172	-1			no_errors	ENST00000326441	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.000	T	T	57325172	G	T	57325172	2	4	38	1	0	0	0	0	0	0	0	1	11759	1048	37	2		2	PEG3	19	57325172	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	4415339	57325172	1803811	159	9302											
C20orf54	113278	genome.wustl.edu	37	chr20	744539	744539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcatgatggataggaGgaggaagaagaccaggggtg	13	5	18	5	0	1	3	1	1	0	2	1	7	1	7	2	7	0	0	2	7	3	1	rs143511669		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr20:744539G>A	ENST00000217254.7	-	3	917	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	SLC52A3_ENST00000381944.3_Missense_Mutation_p.L226F|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	226					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										ATGGATAGGAGGAGGAAGAAG	0.607																																																	0								G	PHE/LEU	1,4405	2.1+/-5.4	0,1,2202	78	68	72		676	3	1	20	dbSNP_134	72	0,8600		0,0,4300	no	missense	C20orf54	NM_033409.3	22	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	226/470	744539	1,13005	2203	4300	6503	SO:0001583	missense	0			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"Solute carriers"	16187	protein-coding gene	gene with protein product	"hypothetical protein LOC113278"	613350	"chromosome 20 open reading frame 54"	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.676C>T	20.37:g.744539G>A	ENSP00000217254:p.Leu226Phe		A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	pfam_Endogenous_retrovirus_rcpt	p.L226F	ENST00000217254.7	37	c.676	CCDS13007.1	20	.	.	.	.	.	.	.	.	.	.	G	7.205	0.594212	0.13875	2.27E-4	0.0	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.78924	-1.22;-1.22	4.95	2.97	0.34412	.	0.202442	0.43579	D	0.000547	T	0.66287	0.2774	L	0.47716	1.5	0.52099	D	0.999941	P;B	0.35894	0.526;0.131	B;B	0.36666	0.23;0.07	T	0.56282	-0.8005	10	0.10902	T	0.67	-7.3211	8.56	0.33505	0.0815:0.0:0.7663:0.1523	.	226;226	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	F	226	ENSP00000217254:L226F;ENSP00000371370:L226F	ENSP00000217254:L226F	L	-	1	0	C20orf54	692539	0.993000	0.37304	0.994000	0.49952	0.587000	0.36485	1.513000	0.35823	0.489000	0.27749	-0.314000	0.08810	CTC	SLC52A3	-	NULL	ENSG00000101276		0.607	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	-	0	47	0	G	NM_033409		744539	-1	tier1	rs143511669	no_errors	ENST00000217254	ensembl	human	known	74_37	missense	10.39	69	8	SNP	0.999	A	A	744539	G	A	744539	3	1	38	1	0	0	0	0	1	0	0	0	2121	1000	35	3	745	3	C20orf54	20	744539	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		744539	62280981	160	9303											
FERMT1	55612	genome.wustl.edu	37	chr20	6065919	6065919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcaggcagccatccattGggcgtattgattctcctgca	8	11	10	12	1	1	1	0	1	1	0	3	1	2	1	3	2	3	4	3	2	1	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr20:6065919G>C	ENST00000217289.4	-	12	2175	c.1387C>G	c.(1387-1389)Caa>Gaa	p.Q463E	FERMT1_ENST00000536936.1_Missense_Mutation_p.Q206E|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	463	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCCATCCATTGGGCGTATTGA	0.527																																																	0													68	58	61					20																	6065919		2203	4300	6503	SO:0001583	missense	0			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"Fermitins", "Pleckstrin homology (PH) domain containing"	15889	protein-coding gene	gene with protein product	"kindlin-1", "kinderlin"	607900	"chromosome 20 open reading frame 42", "fermitin family homolog 1 (Drosophila)"	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1387C>G	20.37:g.6065919G>C	ENSP00000217289:p.Gln463Glu		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q463E	ENST00000217289.4	37	c.1387	CCDS13098.1	20	.	.	.	.	.	.	.	.	.	.	g	8.820	0.937248	0.18206	.	.	ENSG00000101311	ENST00000217289;ENST00000536936;ENST00000339538	D;D	0.95656	-3.77;-3.77	5.25	0.0791	0.14414	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.366612	0.29307	N	0.012539	D	0.89842	0.6832	L	0.27053	0.805	0.19775	N	0.999951	B	0.16603	0.018	B	0.25987	0.065	T	0.80957	-0.1150	10	0.37606	T	0.19	0.2563	9.4439	0.38686	0.0739:0.0:0.4127:0.5134	.	463	Q9BQL6	FERM1_HUMAN	E	463;206;463	ENSP00000217289:Q463E;ENSP00000441063:Q206E	ENSP00000217289:Q463E	Q	-	1	0	FERMT1	6013919	0.977000	0.34250	0.312000	0.25196	0.856000	0.48823	2.145000	0.42207	0.260000	0.21731	-0.322000	0.08575	CAA	FERMT1	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000101311		0.527	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	-	0	44	0	G	NM_017671		6065919	-1	tier1	-	no_errors	ENST00000217289	ensembl	human	known	74_37	missense	19.67	49	12	SNP	0.337	C	C	6065919	G	C	6065919	3	2	38	1	0	0	0	0	1	0	0	0	5839	1357	47	5	662	5	FERMT1	20	6065919	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	5321380	6065919	56959601	161	9304											
EPB41L1	2036	genome.wustl.edu	37	chr20	34778583	34778583	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccaagggcttcctggtGatgggctccaagttccggta	7	9	12	13	1	0	1	0	1	0	0	3	1	3	1	5	4	0	4	5	4	3	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr20:34778583G>T	ENST00000338074.2	+	11	1325	c.1164G>T	c.(1162-1164)gtG>gtT	p.V388V	EPB41L1_ENST00000441639.1_Silent_p.V326V|EPB41L1_ENST00000373941.1_Silent_p.V388V|EPB41L1_ENST00000373950.2_Silent_p.V291V|EPB41L1_ENST00000202028.5_Silent_p.V326V|EPB41L1_ENST00000373946.3_Silent_p.V357V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	388					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCTTCCTGGTGATGGGCTCCA	0.637																																																	0													41	41	41					20																	34778583		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1164G>T	20.37:g.34778583G>T			O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Silent	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V388	ENST00000338074.2	37	c.1164	CCDS13271.1	20																																																																																			EPB41L1	-	pfam_FERM-adjacent,pirsf_Band_41_protein	ENSG00000088367		0.637	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3		0	40	0	G	NM_012156		34778583	1			no_errors	ENST00000338074	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	34778583	G	T	34778583	2	4	38	1	0	0	0	0	0	0	0	1	5168	1277	45	3		3	EPB41L1	20	34778583	Silent	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	28712664	34778583	28246937	162	9305											
DSN1	79980	genome.wustl.edu	37	chr20	35384224	35384224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcagtaattttggcctcaGttgatcctctaaaaacaaaa	14	12	5	10	0	3	1	2	1	1	0	4	1	4	1	3	1	1	2	3	1	6	5			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr20:35384224G>T	ENST00000426836.1	-	9	1106	c.734C>A	c.(733-735)aCt>aAt	p.T245N	DSN1_ENST00000373740.3_Missense_Mutation_p.T173N|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Missense_Mutation_p.T245N|DSN1_ENST00000373745.3_Missense_Mutation_p.T245N|DSN1_ENST00000373734.4_Missense_Mutation_p.T138N|DSN1_ENST00000448110.2_Missense_Mutation_p.T229N	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	245					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TTTGGCCTCAGTTGATCCTCT	0.338																																																	0													98	96	97					20																	35384224		2203	4300	6503	SO:0001583	missense	0			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.734C>A	20.37:g.35384224G>T	ENSP00000389810:p.Thr245Asn		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Missense_Mutation	SNP	pfam_Dsn1/Mis13	p.T245N	ENST00000426836.1	37	c.734	CCDS13286.1	20	.	.	.	.	.	.	.	.	.	.	G	6.242	0.412748	0.11812	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595	.	.	.	4.74	1.64	0.23874	.	0.975523	0.08390	N	0.953055	T	0.26340	0.0643	N	0.19112	0.55	0.18873	N	0.999987	B;B	0.10296	0.001;0.003	B;B	0.10450	0.003;0.005	T	0.25882	-1.0119	9	0.49607	T	0.09	-25.7805	4.2301	0.10599	0.1931:0.0:0.6258:0.1811	.	138;245	Q5JW55;Q9H410	.;DSN1_HUMAN	N	245;245;229;178;245;173;138;229	.	ENSP00000362838:T178N	T	-	2	0	DSN1	34817638	0.938000	0.31826	0.246000	0.24233	0.311000	0.27955	1.393000	0.34497	0.289000	0.22422	0.460000	0.39030	ACT	DSN1	-	pfam_Dsn1/Mis13	ENSG00000149636		0.338	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2		0	25	0	G	NM_024918		35384224	-1			no_errors	ENST00000373745	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.459	T	T	35384224	G	T	35384224	3	4	38	1	0	0	0	0	1	0	0	0	4794	1029	36	3	348	3	DSN1	20	35384224	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	605641	35384224	27641296	163	9306											
SALL4	57167	genome.wustl.edu	37	chr20	50401201	50401201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctgagttattgttcGccccgtgtgtcatgtagtga	5	13	15	8	3	1	2	1	2	0	0	2	2	1	2	2	2	0	4	2	2	2	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr20:50401201G>A	ENST00000217086.4	-	4	2876	c.2765C>T	c.(2764-2766)gCg>gTg	p.A922V	SALL4_ENST00000371539.3_Missense_Mutation_p.A145V|SALL4_ENST00000395997.3_Missense_Mutation_p.A485V	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	922					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A922V(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATTGTTCGCCCCGTGTGT	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											81	72	75					20																	50401201		2203	4300	6503	SO:0001583	missense	0			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"Zinc fingers, C2H2-type"	15924	protein-coding gene	gene with protein product		607343	"sal (Drosophila)-like 4", "sal-like 4 (Drosophila)"				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2765C>T	20.37:g.50401201G>A	ENSP00000217086:p.Ala922Val		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A922V	ENST00000217086.4	37	c.2765	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901649	0.33535	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.35048	3.0;3.0;1.33	3.56	3.56	0.40772	Zinc finger, C2H2 (1);	0.000000	0.42821	D	0.000641	T	0.42359	0.1199	L	0.36672	1.1	0.30361	N	0.783777	D;P;P	0.76494	0.999;0.783;0.527	D;B;B	0.70716	0.97;0.058;0.054	T	0.18116	-1.0347	10	0.13108	T	0.6	-22.8172	10.9269	0.47195	0.0:0.0:1.0:0.0	.	485;145;922	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	V	922;485;145	ENSP00000217086:A922V;ENSP00000379319:A485V;ENSP00000360594:A145V	ENSP00000217086:A922V	A	-	2	0	SALL4	49834608	1.000000	0.71417	0.873000	0.34254	0.681000	0.39784	2.406000	0.44557	2.303000	0.77524	0.561000	0.74099	GCG	SALL4	-	pfscan_Znf_C2H2	ENSG00000101115		0.468	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	-	0	31	0	G			50401201	-1	tier1	-	no_errors	ENST00000217086	ensembl	human	known	74_37	missense	48.19	43	40	SNP	0.968	A	A	50401201	G	A	50401201	3	1	38	1	0	0	0	0	1	0	0	0	13858	1087	38	1	400	1	SALL4	20	50401201	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	15016977	50401201	12624319	164	9307											
C20orf11	54994	genome.wustl.edu	37	chr20	61572954	61572954	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatgaaccgcctcatcAtgaactacctggtcacaggt	12	8	8	13	1	3	3	3	2	0	1	3	3	3	3	3	2	3	0	3	2	3	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr20:61572954A>T	ENST00000266069.3	+	2	247	c.100A>T	c.(100-102)Atg>Ttg	p.M34L		NM_017896.2	NP_060366.1	Q9NWU2	GID8_HUMAN	GID complex subunit 8	34	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					cell junction (GO:0030054)|nucleus (GO:0005634)											CCGCCTCATCATGAACTACCT	0.438																																																	0													100	97	98					20																	61572954		2203	4300	6503	SO:0001583	missense	0			AK000609	CCDS13510.1	20q13.33	2013-07-31	2013-07-31	2012-07-20	ENSG00000101193	ENSG00000101193			15857	protein-coding gene	gene with protein product		611625	"chromosome 20 open reading frame 11", "GID complex subunit 8 homolog (S. cerevisiae)"	C20orf11		12559565	Standard	NM_017896		Approved	FLJ20602, bA305P22.1, TWA1	uc002ydy.3	Q9NWU2	OTTHUMG00000032949	ENST00000266069.3:c.100A>T	20.37:g.61572954A>T	ENSP00000266069:p.Met34Leu		E1P5I3|Q8N5M5	Missense_Mutation	SNP	pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.M34L	ENST00000266069.3	37	c.100	CCDS13510.1	20	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805630	0.90623	.	.	ENSG00000101193	ENST00000266069;ENST00000412152	T	0.74209	-0.82	5.61	5.61	0.85477	LisH dimerisation motif (2);LisH dimerisation motif, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.76821	0.4041	L	0.55990	1.75	0.80722	D	1	P	0.50617	0.937	P	0.49276	0.605	T	0.78432	-0.2206	10	0.51188	T	0.08	-31.6553	15.7896	0.78343	1.0:0.0:0.0:0.0	.	34	Q9NWU2	CT011_HUMAN	L	34	ENSP00000266069:M34L	ENSP00000266069:M34L	M	+	1	0	C20orf11	61043399	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.882000	0.92420	2.141000	0.66446	0.491000	0.48974	ATG	GID8	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000101193		0.438	GID8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID8	HGNC	protein_coding	OTTHUMT00000080097.2	-	0	59	0	A	NM_017896		61572954	1	tier1	-	no_errors	ENST00000266069	ensembl	human	known	74_37	missense	50.42	59	60	SNP	1.000	T	T	61572954	A	T	61572954	3	4	38	1	0	0	0	0	1	0	0	0	2086	217	8	5	102	5	C20orf11	20	61572954	Missense_Mutation	SNP	A	TCGA-JY-A6FE-01A-11D-A33E-09	11171753	61572954	1452566	165	9308											
STMN3	50861	genome.wustl.edu	37	chr20	62273557	62273557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttctcctccgcctggcgGctgaagttgttattctcctc	4	14	9	14	2	2	1	0	1	2	0	6	1	3	1	4	2	1	4	4	2	2	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr20:62273557G>T	ENST00000370053.1	-	4	468	c.387C>A	c.(385-387)agC>agA	p.S129R	STMN3_ENST00000540534.1_Missense_Mutation_p.S118R	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	129	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cytoplasmic microtubule organization (GO:0031122)|negative regulation of Rac protein signal transduction (GO:0035021)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|regulation of cytoskeleton organization (GO:0051493)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of Rac GTPase activity (GO:0032314)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	protein domain specific binding (GO:0019904)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CCGCCTGGCGGCTGAAGTTGT	0.657																																																	0													32	29	30					20																	62273557		2201	4300	6501	SO:0001583	missense	0			AF069709	CCDS13529.1, CCDS63330.1	20q13.3	2007-01-22			ENSG00000197457	ENSG00000197457			15926	protein-coding gene	gene with protein product		608362				9603203, 10655513	Standard	NM_001276310		Approved	SCLIP	uc002yfr.2	Q9NZ72	OTTHUMG00000032985	ENST00000370053.1:c.387C>A	20.37:g.62273557G>T	ENSP00000359070:p.Ser129Arg		B3KSQ5|B7WP52|B7Z5G4|O75527|Q969Y4	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.S129R	ENST00000370053.1	37	c.387	CCDS13529.1	20	.	.	.	.	.	.	.	.	.	.	g	16.70	3.195403	0.58126	.	.	ENSG00000197457	ENST00000370053;ENST00000540534	.	.	.	5.27	4.33	0.51752	.	0.066079	0.56097	U	0.000024	T	0.79329	0.4427	M	0.85945	2.785	0.50467	D	0.999875	D	0.67145	0.996	D	0.67382	0.951	T	0.81996	-0.0676	9	0.52906	T	0.07	-12.9121	13.882	0.63688	0.0743:0.0:0.9257:0.0	.	129	Q9NZ72	STMN3_HUMAN	R	129;118	.	ENSP00000359070:S129R	S	-	3	2	STMN3	61744001	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	6.153000	0.71819	1.236000	0.43740	-0.243000	0.11985	AGC	STMN3	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	ENSG00000197457		0.657	STMN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN3	HGNC	protein_coding	OTTHUMT00000080163.1		0	51	0	G	NM_015894		62273557	-1			no_errors	ENST00000370053	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	62273557	G	T	62273557	3	4	38	1	0	0	0	0	1	0	0	0	15357	1194	42	3	163	3	STMN3	20	62273557	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	700603	62273557	751963	166	9309											
MORC2	22880	genome.wustl.edu	37	chr22	31330769	31330769	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaggacaagcgtctcaccGgggagagtttgatgggtgac	11	7	16	7	2	1	4	1	2	1	2	2	6	1	5	1	4	1	1	1	4	2	1			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chr22:31330769G>T	ENST00000397641.3	-	19	2600	c.2192C>A	c.(2191-2193)cCg>cAg	p.P731Q	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000469915.1_5'Flank|MORC2_ENST00000215862.4_Splice_Site_p.P669Q			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	731						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.P669L(1)		breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GCGTCTCACCGGGGAGAGTTT	0.522																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											169	177	174					22																	31330769		2203	4300	6503	SO:0001630	splice_region_variant	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2193+1C>A	22.37:g.31330769G>T			B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.P731Q	ENST00000397641.3	37	c.2192		22	.	.	.	.	.	.	.	.	.	.	G	1.177	-0.639209	0.03557	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.10763	2.84;2.84	5.52	-0.728	0.11162	.	1.049510	0.07357	N	0.883472	T	0.07593	0.0191	L	0.40543	1.245	0.27914	N	0.938529	B	0.02656	0.0	B	0.04013	0.001	T	0.45279	-0.9272	10	0.12103	T	0.63	.	4.1609	0.10284	0.3811:0.0:0.3695:0.2494	.	731	Q9Y6X9	MORC2_HUMAN	Q	731;669	ENSP00000380763:P731Q;ENSP00000215862:P669Q	ENSP00000215862:P669Q	P	-	2	0	MORC2	29660769	0.073000	0.21202	0.027000	0.17364	0.297000	0.27493	0.142000	0.16096	0.027000	0.15297	0.561000	0.74099	CCG	MORC2	-	NULL	ENSG00000133422		0.522	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	HGNC	protein_coding	OTTHUMT00000321710.2		0	48	0	G	NM_014941	Missense_Mutation	31330769	-1			no_errors	ENST00000397641	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.022	T	T	31330769	G	T	31330769	5	4	38	1	0	0	0	0	0	0	1	0	9740	1130	39	2	938	2	MORC2	22	31330769	Splice_Site	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09		31330769	19973797	167	9310											
FAAH2	158584	genome.wustl.edu	37	chrX	57458421	57458421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgaagaaaatgaagtactCttttcagttgtggatcgcaa	14	12	9	6	1	2	3	1	2	1	1	3	4	2	4	0	1	1	3	0	1	6	4			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chrX:57458421C>G	ENST00000374900.4	+	8	1187	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	356						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGAAGTACTCTTTTCAGTTG	0.328										HNSCC(52;0.14)																																							0													120	96	104					X																	57458421		2203	4300	6503	SO:0001583	missense	0			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.1067C>G	X.37:g.57458421C>G	ENSP00000364035:p.Ser356Cys		Q86VT2|Q96N98	Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom	p.S356C	ENST00000374900.4	37	c.1067	CCDS14375.1	X	.	.	.	.	.	.	.	.	.	.	c	14.70	2.614912	0.46631	.	.	ENSG00000165591	ENST00000374900	T	0.55413	0.52	2.39	2.39	0.29439	Amidase signature domain (2);	0.266617	0.30068	U	0.010487	T	0.65196	0.2668	M	0.79926	2.475	0.38738	D	0.953826	D	0.57571	0.98	P	0.58520	0.84	T	0.69745	-0.5062	10	0.72032	D	0.01	.	8.2058	0.31454	0.0:1.0:0.0:0.0	.	356	Q6GMR7	FAAH2_HUMAN	C	356	ENSP00000364035:S356C	ENSP00000364035:S356C	S	+	2	0	FAAH2	57475146	0.999000	0.42202	0.996000	0.52242	0.971000	0.66376	1.719000	0.38011	0.945000	0.37605	0.462000	0.41574	TCT	FAAH2	-	pfam_Amidase,superfamily_Amidase_dom	ENSG00000165591		0.328	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	-	0	16	0	C	NM_174912		57458421	1	tier1	-	no_errors	ENST00000374900	ensembl	human	known	74_37	missense	26.14	65	23	SNP	1.000	G	G	57458421	C	G	57458421	3	3	38	1	0	0	0	0	1	0	0	0	5373	913	32	5	1097	5	FAAH2	23	57458421	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09		57458421	97812139	168	9311											
RAB41	407	genome.wustl.edu	37	chrX	69503403	69503403	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagataagtgggtagaacaCgtgcgagcagaaagaggtga	16	5	15	5	2	0	5	0	1	0	4	0	6	0	5	0	2	3	2	0	2	4	2	rs141218284		TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chrX:69503403C>T	ENST00000307959.8	+	0	1292				RAB41_ENST00000374473.2_Silent_p.H128H|RAB41_ENST00000276066.4_Silent_p.H127H	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GGGTAGAACACGTGCGAGCAG	0.388																																																	0								C		0,3835		0,0,1632,571	154	139	144		381	0.9	0	X	dbSNP_134	144	1,6727		0,1,2427,1872	no	coding-synonymous	RAB41	NM_001032726.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		127/222	69503403	1,10562	2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69503403C>T			B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H128	ENST00000307959.8	37	c.384	CCDS14399.1	X																																																																																			RAB41	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000147127		0.388	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB41	HGNC	protein_coding	OTTHUMT00000057055.2		0	15	0	C	NM_004312		69503403	1			no_errors	ENST00000374473	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.997	T	T	69503403	C	T	69503403	1	4	38	0	1	0	0	0	0	0	0	0	12988	535	19	1		1	RAB41	23	69503403	IGR	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	12044982	69503403	85767157	169	9312											
DRP2	1821	genome.wustl.edu	37	chrX	100507655	100507655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgcttcttgacaggcaggGccagcaaaggcaataagctg	11	7	12	11	0	1	1	0	1	1	0	1	1	1	1	2	3	3	5	2	3	3	3			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chrX:100507655G>T	ENST00000395209.3	+	17	2454	c.1927G>T	c.(1927-1929)Gcc>Tcc	p.A643S	DRP2_ENST00000541709.1_Missense_Mutation_p.A565S|DRP2_ENST00000402866.1_Missense_Mutation_p.A643S|DRP2_ENST00000538510.1_Missense_Mutation_p.A643S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	643					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GACAGGCAGGGCCAGCAAAGG	0.532																																																	0													126	90	103					X																	100507655		2203	4300	6503	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.1927G>T	X.37:g.100507655G>T	ENSP00000378635:p.Ala643Ser		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.A643S	ENST00000395209.3	37	c.1927	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104541	0.56291	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	6.08	6.08	0.98989	Zinc finger, ZZ-type (3);	0.100164	0.64402	D	0.000002	T	0.81767	0.4892	N	0.03238	-0.38	0.43152	D	0.994924	B	0.29552	0.248	B	0.30179	0.112	T	0.79408	-0.1816	10	0.37606	T	0.19	-13.2305	19.5098	0.95137	0.0:0.0:1.0:0.0	.	643	Q13474	DRP2_HUMAN	S	643;643;565;643	ENSP00000385038:A643S;ENSP00000378635:A643S;ENSP00000444752:A565S;ENSP00000441051:A643S	ENSP00000378635:A643S	A	+	1	0	DRP2	100394311	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.352000	0.73027	2.562000	0.86427	0.600000	0.82982	GCC	DRP2	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_Znf_ZZ	ENSG00000102385		0.532	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3		0	13	0	G	NM_001939		100507655	1			no_errors	ENST00000395209	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T	T	100507655	G	T	100507655	3	4	38	1	0	0	0	0	1	0	0	0	4778	1203	42	3	1985	3	DRP2	23	100507655	Missense_Mutation	SNP	G	TCGA-JY-A6FE-01A-11D-A33E-09	31004252	100507655	54762905	170	9313											
CNGA2	1260	genome.wustl.edu	37	chrX	150906969	150906969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggaggatgaccgaaaaaaCcaatggtgtgaagagctccc	15	6	12	8	1	0	3	0	2	0	1	1	6	1	5	3	3	2	1	3	3	5	0			TCGA-JY-A6FE-01A-11D-A33E-09	TCGA-JY-A6FE-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	735e3c66-d6fa-49f4-9606-625fd049b8a7	3607aeab-8869-4f79-98ea-8214dcbd16ab	g.chrX:150906969C>A	ENST00000329903.4	+	1	47	c.14C>A	c.(13-15)aCc>aAc	p.T5N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	5					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGAAAAAACCAATGGTGTG	0.522																																																	0													183	140	155					X																	150906969		2203	4300	6503	SO:0001583	missense	0			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.14C>A	X.37:g.150906969C>A	ENSP00000328478:p.Thr5Asn		A0AVD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T5N	ENST00000329903.4	37	c.14	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	C	4.797	0.148167	0.09134	.	.	ENSG00000183862	ENST00000329903	D	0.97303	-4.33	4.85	3.99	0.46301	.	1.034710	0.07658	N	0.933094	D	0.91768	0.7396	N	0.08118	0	0.19300	N	0.99998	B	0.09022	0.002	B	0.06405	0.002	D	0.84527	0.0631	10	0.51188	T	0.08	.	7.9608	0.30070	0.0:0.8873:0.0:0.1127	.	5	Q16280	CNGA2_HUMAN	N	5	ENSP00000328478:T5N	ENSP00000328478:T5N	T	+	2	0	CNGA2	150657625	0.988000	0.35896	0.987000	0.45799	0.005000	0.04900	1.445000	0.35079	1.044000	0.40200	-0.192000	0.12808	ACC	CNGA2	-	NULL	ENSG00000183862		0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	-	0	19	0	C	NM_005140		150906969	1	tier1	-	no_errors	ENST00000329903	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.976	A	A	150906969	C	A	150906969	3	1	38	1	0	0	0	0	1	0	0	0	3604	507	18	3	16	3	CNGA2	23	150906969	Missense_Mutation	SNP	C	TCGA-JY-A6FE-01A-11D-A33E-09	50399314	150906969	4363591	171	9314											
KLHDC7A	127707	genome.wustl.edu	37	chr1	18807852	18807852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggctcaggtgaggagcGgggcgggcagggctcggact	9	4	20	8	3	1	1	1	1	0	0	2	3	1	3	0	8	1	3	0	8	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:18807852G>A	ENST00000400664.1	+	1	429	c.377G>A	c.(376-378)cGg>cAg	p.R126Q		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	126						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAGGAGCGGGGCGGGCAG	0.632																																																	0													23	29	27					1																	18807852		2018	4168	6186	SO:0001583	missense	0			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.377G>A	1.37:g.18807852G>A	ENSP00000383505:p.Arg126Gln		Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.R126Q	ENST00000400664.1	37	c.377	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	G	0.904	-0.721408	0.03182	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.71934	-0.61	5.17	-10.3	0.00346	.	.	.	.	.	T	0.37625	0.1010	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39820	-0.9595	9	0.15952	T	0.53	.	9.0696	0.36484	0.14:0.5045:0.2887:0.0667	.	126	Q5VTJ3	KLD7A_HUMAN	Q	126;63	ENSP00000383505:R126Q	ENSP00000383505:R126Q	R	+	2	0	KLHDC7A	18680439	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.151000	0.00285	-5.424000	0.00015	-3.647000	0.00026	CGG	KLHDC7A	-	NULL	ENSG00000179023		0.632	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	-	0	109	0	G	NM_152375		18807852	1	tier1	-	no_errors	ENST00000400664	ensembl	human	known	74_37	missense	33.80	46	24	SNP	0.000	A	A	18807852	G	A	18807852	3	1	39	1	0	0	0	0	1	0	0	0	8387	1116	39	1	379	1	KLHDC7A	1	18807852	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		18807852	230442769	1	9315											
KDM1A	23028	genome.wustl.edu	37	chr1	23357117	23357118	+	Frame_Shift_Ins	INS	-	-	G																															aaaatgaaagtgagcctgaaINSgaaccatcgggtgagttgta																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:23357117_23357118insG	ENST00000356634.3	+	2	656_657	c.507_508insG	c.(508-510)gaafs	p.E170fs	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Frame_Shift_Ins_p.E170fs|KDM1A_ENST00000400181.4_Frame_Shift_Ins_p.E170fs	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	170					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGAGCCTGAAGAACCATCGGG	0.396																																																	0																																										SO:0001589	frameshift_variant	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.508dupG	1.37:g.23357118_23357118dupG	ENSP00000349049:p.Glu170fs		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Frame_Shift_Ins	INS	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.E169fs	ENST00000356634.3	37	c.507_508	CCDS30627.1	1																																																																																			KDM1A	-	pirsf_Hist_Lys-spec_deMease	ENSG00000004487		0.396	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3		0	30	0	-	NM_015013		23357118	1	tier1		no_errors	ENST00000542151	ensembl	human	known	74_37	frame_shift_ins	28.57	35	14	INS	1.000:1.000	G	G	23357118	-	G	23357117	7	5	39	1	0	1	1	0	0	0	0	0	8149	69	3	0	513	0	KDM1A	1	23357117	Frame_Shift_Ins	INS	-	TCGA-JY-A6FG-01A-11D-A33E-09	4549265	23357117	225893504	2	9316											
EPB41	2035	genome.wustl.edu	37	chr1	29365939	29365939	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcccggagcctcgatggagGtttgtattgaatattaatga	10	13	12	6	2	0	2	0	2	0	0	2	5	1	4	2	3	1	2	2	3	4	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:29365939G>A	ENST00000343067.4	+	11	1763		c.e11+1		EPB41_ENST00000373798.1_Splice_Site|EPB41_ENST00000373797.1_Splice_Site|EPB41_ENST00000398863.2_Splice_Site|EPB41_ENST00000349460.4_Splice_Site|EPB41_ENST00000356093.2_Splice_Site|EPB41_ENST00000347529.3_Splice_Site|EPB41_ENST00000373800.3_Splice_Site	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1						actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CTCGATGGAGGTTTGTATTGA	0.438																																																	0													51	55	53					1																	29365939		2203	4300	6503	SO:0001630	splice_region_variant	0			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"elliptocytosis 1, RH-linked"	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1636+1G>A	1.37:g.29365939G>A			B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Splice_Site	SNP	-	e10+1	ENST00000343067.4	37	c.1636+1	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887175	0.91814	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0001	0.89196	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPB41	29238526	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.813000	0.99286	2.571000	0.86741	0.484000	0.47621	.	EPB41	-	-	ENSG00000159023		0.438	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	-	0	64	0	G	NM_203342	Intron	29365939	1	tier1	-	no_errors	ENST00000343067	ensembl	human	known	74_37	splice_site	29.82	40	17	SNP	1.000	A	A	29365939	G	A	29365939	5	1	39	1	0	0	0	0	0	0	1	0	5167	1275	44	3	1675	3	EPB41	1	29365939	Splice_Site	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	6008822	29365939	219884682	3	9317											
DLGAP3	58512	genome.wustl.edu	37	chr1	35334651	35334651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccaggtctgcctgcacGccagccgtcacactattgga	8	8	10	15	2	2	0	1	0	1	0	3	1	3	1	4	2	4	2	4	2	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:35334651G>A	ENST00000373347.1	-	9	2308	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	DLGAP3_ENST00000235180.4_Silent_p.G680G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	680					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTGCCTGCACGCCAGCCGTCA	0.657																																																	0													16	15	15					1																	35334651		2122	4078	6200	SO:0001819	synonymous_variant	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2040C>T	1.37:g.35334651G>A			Q5TDD5|Q9H3X7	Silent	SNP	pfam_GKAP	p.G680	ENST00000373347.1	37	c.2040	CCDS30670.1	1																																																																																			DLGAP3	-	pfam_GKAP	ENSG00000116544		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	-	0	51	0	G	NM_021234		35334651	-1	tier1	-	no_errors	ENST00000235180	ensembl	human	known	74_37	silent	42.42	18	14	SNP	0.615	A	A	35334651	G	A	35334651	2	1	39	1	0	0	0	0	0	0	0	1	4575	1074	38	1		1	DLGAP3	1	35334651	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	5968712	35334651	213915970	4	9318											
ZSWIM5	57643	genome.wustl.edu	37	chr1	45484252	45484252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaaggtctcccgagcCttgcttagaaactcaatgaa	13	8	10	10	1	2	2	1	1	1	1	3	4	2	3	2	2	4	2	2	2	5	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:45484252C>A	ENST00000359600.5	-	14	3637	c.3432G>T	c.(3430-3432)aaG>aaT	p.K1144N		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1144						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTCCCGAGCCTTGCTTAGAA	0.502											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													190	187	188					1																	45484252		2074	4209	6283	SO:0001583	missense	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.3432G>T	1.37:g.45484252C>A	ENSP00000352614:p.Lys1144Asn	932	Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.K1144N	ENST00000359600.5	37	c.3432	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611848	0.46631	.	.	ENSG00000162415	ENST00000359600	T	0.52295	0.67	4.94	-0.31	0.12765	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.81942	2.565	0.58432	D	0.999993	D	0.76494	0.999	D	0.72625	0.978	T	0.65175	-0.6232	10	0.87932	D	0	-19.474	10.2064	0.43116	0.0:0.5855:0.0:0.4144	.	1144	Q9P217	ZSWM5_HUMAN	N	1144	ENSP00000352614:K1144N	ENSP00000352614:K1144N	K	-	3	2	ZSWIM5	45256839	0.953000	0.32496	0.995000	0.50966	0.997000	0.91878	0.092000	0.15066	-0.139000	0.11414	0.561000	0.74099	AAG	ZSWIM5	-	NULL	ENSG00000162415		0.502	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	-	0	85	0	C	XM_046581		45484252	-1	tier1	-	no_errors	ENST00000359600	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	A	A	45484252	C	A	45484252	3	1	39	1	0	0	0	0	1	0	0	0	18292	680	24	3	129	3	ZSWIM5	1	45484252	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	10149601	45484252	203766369	5	9319											
KIAA0494	9813	genome.wustl.edu	37	chr1	47157529	47157529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagtaattccatcgttttCttgtgttcatccacagtttt	7	19	6	9	1	2	0	1	0	1	0	5	0	4	0	2	0	1	5	2	0	1	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:47157529C>T	ENST00000371933.3	-	5	1636	c.660G>A	c.(658-660)aaG>aaA	p.K220K	EFCAB14_ENST00000544071.1_Silent_p.K220K|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	220							calcium ion binding (GO:0005509)										CCATCGTTTTCTTGTGTTCAT	0.428																																																	0													215	174	188					1																	47157529		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.660G>A	1.37:g.47157529C>T			D3DQ23|Q5SXB8	Silent	SNP	pfscan_EF_hand_dom	p.K220	ENST00000371933.3	37	c.660	CCDS30706.1	1																																																																																			EFCAB14	-	NULL	ENSG00000159658		0.428	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB14	HGNC	protein_coding	OTTHUMT00000021931.1	-	0	43	0	C	NM_014774		47157529	-1	tier1	-	no_errors	ENST00000371933	ensembl	human	known	74_37	silent	12.28	50	7	SNP	1.000	T	T	47157529	C	T	47157529	2	4	39	1	0	0	0	0	0	0	0	1	8206	912	32	3		3	KIAA0494	1	47157529	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1673277	47157529	202093092	6	9320											
ZYG11B	79699	genome.wustl.edu	37	chr1	53222263	53222263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattcccacaggaggtggCtgatcgactgcttcggacca	9	9	12	11	2	0	1	0	1	0	0	3	4	1	3	2	4	1	3	2	4	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:53222263C>T	ENST00000294353.6	+	2	309	c.164C>T	c.(163-165)gCt>gTt	p.A55V	ZYG11B_ENST00000443756.2_Missense_Mutation_p.A55V|ZYG11B_ENST00000545132.1_Missense_Mutation_p.A55V|RNU2-30P_ENST00000516209.1_RNA	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	55										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CAGGAGGTGGCTGATCGACTG	0.408																																																	0													112	109	110					1																	53222263		2203	4300	6503	SO:0001583	missense	0			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"ZYG11 cell cycle regulator family"	25820	protein-coding gene	gene with protein product			"zyg-11 homolog (C. elegans)", "zyg-11 homolog B (C. elegans)"	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.164C>T	1.37:g.53222263C>T	ENSP00000294353:p.Ala55Val		Q8N2X3|Q9H8L8	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A55V	ENST00000294353.6	37	c.164	CCDS30717.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928960	0.92389	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T	0.52295	0.68;0.67	4.89	4.89	0.63831	.	0.107664	0.64402	D	0.000006	T	0.67154	0.2863	M	0.68952	2.095	0.46586	D	0.999119	D;D	0.89917	0.996;1.0	P;D	0.70935	0.871;0.971	T	0.68368	-0.5427	10	0.51188	T	0.08	.	18.253	0.90011	0.0:1.0:0.0:0.0	.	55;55	B4DK95;Q9C0D3	.;ZY11B_HUMAN	V	55	ENSP00000441315:A55V;ENSP00000294353:A55V	ENSP00000294353:A55V	A	+	2	0	ZYG11B	52994851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.327000	0.65881	2.549000	0.85964	0.650000	0.86243	GCT	ZYG11B	-	NULL	ENSG00000162378		0.408	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11B	HGNC	protein_coding	OTTHUMT00000024749.1		0	28	0	C	NM_024646		53222263	1			no_errors	ENST00000294353	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	53222263	C	T	53222263	3	4	39	1	0	0	0	0	1	0	0	0	18301	797	28	3	170	3	ZYG11B	1	53222263	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	6064734	53222263	196028358	7	9321											
ZNF644	84146	genome.wustl.edu	37	chr1	91405831	91405831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggttataaattagatgttgGaaggcatccacagattctaa	14	12	10	5	0	1	2	0	0	1	2	2	3	2	3	1	3	0	3	1	3	6	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:91405831G>T	ENST00000370440.1	-	3	1297	c.1080C>A	c.(1078-1080)ttC>ttA	p.F360L	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.F360L|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAGATGTTGGAAGGCATCCA	0.353																																																	0													117	115	115					1																	91405831		2203	4300	6503	SO:0001583	missense	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1080C>A	1.37:g.91405831G>T	ENSP00000359469:p.Phe360Leu		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F360L	ENST00000370440.1	37	c.1080	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	G	5.164	0.215790	0.09810	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00563	6.58;6.58	5.44	1.74	0.24563	.	0.100699	0.64402	D	0.000002	T	0.00109	0.0003	N	0.19112	0.55	0.34070	D	0.658369	B	0.12630	0.006	B	0.09377	0.004	T	0.08066	-1.0740	10	0.09843	T	0.71	-13.0045	3.8931	0.09127	0.4876:0.1885:0.3239:0.0	.	360	Q9H582	ZN644_HUMAN	L	360	ENSP00000359469:F360L;ENSP00000337008:F360L	ENSP00000337008:F360L	F	-	3	2	ZNF644	91178419	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	0.841000	0.27613	0.901000	0.36495	-0.459000	0.05422	TTC	ZNF644	-	NULL	ENSG00000122482		0.353	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	-	0	31	0	G	NM_032186		91405831	-1	tier1	-	no_errors	ENST00000337393	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.985	T	T	91405831	G	T	91405831	3	4	39	1	0	0	0	0	1	0	0	0	18108	1165	41	3	2919	3	ZNF644	1	91405831	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	38183568	91405831	157844790	8	9322											
GFI1	2672	genome.wustl.edu	37	chr1	92948423	92948423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtgggttcctacctGgagacgcggagggtgacggg	6	8	17	10	3	0	2	0	1	0	1	2	4	2	3	3	5	1	1	3	5	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:92948423G>T	ENST00000370332.1	-	3	614	c.296C>A	c.(295-297)cCa>cAa	p.P99Q	GFI1_ENST00000427103.1_Missense_Mutation_p.P99Q|GFI1_ENST00000483490.1_5'Flank|GFI1_ENST00000294702.5_Missense_Mutation_p.P99Q	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	99					auditory receptor cell differentiation (GO:0042491)|cell fate commitment (GO:0045165)|cellular response to lipopolysaccharide (GO:0071222)|inner ear morphogenesis (GO:0042472)|mechanosensory behavior (GO:0007638)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell fate specification (GO:0009996)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vitamin D biosynthetic process (GO:0010957)|positive regulation of cell fate specification (GO:0042660)|positive regulation of interleukin-6-mediated signaling pathway (GO:0070105)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|viral process (GO:0016032)	nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GTTCCTACCTGGAGACGCGGA	0.657																																																	0													27	33	31					1																	92948423		2203	4300	6503	SO:0001583	missense	0			U67369	CCDS30773.1	1p22	2014-09-17	2007-10-04		ENSG00000162676	ENSG00000162676		"Zinc fingers, C2H2-type"	4237	protein-coding gene	gene with protein product		600871	"growth factor independent 1"	ZNF163		7789186	Standard	NM_005263		Approved	GFI1A, GFI-1	uc001dov.4	Q99684	OTTHUMG00000010897	ENST00000370332.1:c.296C>A	1.37:g.92948423G>T	ENSP00000359357:p.Pro99Gln		Q8N564	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P99Q	ENST00000370332.1	37	c.296	CCDS30773.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.492937	0.96339	.	.	ENSG00000162676	ENST00000370332;ENST00000427103;ENST00000294702	T;T;T	0.12465	2.68;2.68;2.68	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04078	-1.0979	10	0.72032	D	0.01	-17.3598	19.5896	0.95503	0.0:0.0:1.0:0.0	.	99	Q99684	GFI1_HUMAN	Q	99	ENSP00000359357:P99Q;ENSP00000399719:P99Q;ENSP00000294702:P99Q	ENSP00000294702:P99Q	P	-	2	0	GFI1	92721011	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.234000	0.95347	2.706000	0.92434	0.561000	0.74099	CCA	GFI1	-	NULL	ENSG00000162676		0.657	GFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFI1	HGNC	protein_coding	OTTHUMT00000030054.1		0	170	0	G	NM_005263		92948423	-1			no_errors	ENST00000294702	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	92948423	G	T	92948423	3	4	39	1	0	0	0	0	1	0	0	0	6365	1348	47	3	992	3	GFI1	1	92948423	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1542592	92948423	156302198	9	9323											
COL11A1	1301	genome.wustl.edu	37	chr1	103355076	103355076	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggtcacctttttccccttGttctcctggaggaccaatca	6	14	7	14	1	3	0	2	0	1	0	6	2	4	2	5	3	0	1	5	3	1	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:103355076G>C	ENST00000370096.3	-	59	4711	c.4399C>G	c.(4399-4401)Caa>Gaa	p.Q1467E	COL11A1_ENST00000358392.2_Missense_Mutation_p.Q1479E|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q1351E|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q1428E	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1467	Collagen-like 7.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTCCCCTTGTTCTCCTGGA	0.398																																																	0													72	69	70					1																	103355076		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4399C>G	1.37:g.103355076G>C	ENSP00000359114:p.Gln1467Glu		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.Q1479E	ENST00000370096.3	37	c.4435	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527228	0.64860	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	5.46	5.46	0.80206	.	0.065538	0.64402	D	0.000005	D	0.95004	0.8383	N	0.25426	0.745	0.80722	D	1	P;P;D;D;P	0.59357	0.924;0.954;0.982;0.985;0.954	P;D;D;D;D	0.73708	0.9;0.954;0.968;0.981;0.954	D	0.93979	0.7256	10	0.30854	T	0.27	.	19.3074	0.94169	0.0:0.0:1.0:0.0	.	1351;1428;1479;1467;687	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	E	1467;1479;1428;687;1351	ENSP00000359114:Q1467E;ENSP00000351163:Q1479E;ENSP00000302551:Q1428E;ENSP00000426533:Q1351E	ENSP00000302551:Q1428E	Q	-	1	0	COL11A1	103127664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.560000	0.86352	0.563000	0.77884	CAA	COL11A1	-	pfam_Collagen	ENSG00000060718		0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	89	0	G	NM_080630		103355076	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	35.71	80	45	SNP	1.000	C	C	103355076	G	C	103355076	3	2	39	1	0	0	0	0	1	0	0	0	3674	1386	48	5	1057	5	COL11A1	1	103355076	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10406653	103355076	145895545	10	9324											
ATP5F1	515	genome.wustl.edu	37	chr1	111996969	111996969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttctttatcctaaaactGgtgtaacaggtgagcatttt	11	16	8	6	0	1	1	0	1	1	0	2	1	2	1	1	2	3	3	1	2	4	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:111996969G>T	ENST00000369722.3	+	3	820	c.214G>T	c.(214-216)Ggt>Tgt	p.G72C	ATP5F1_ENST00000369721.4_Intron|ATP5F1_ENST00000483994.1_Intron	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	72					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCCTAAAACTGGTGTAACAGG	0.418																																																	0													142	142	142					1																	111996969		2203	4300	6503	SO:0001583	missense	0			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.214G>T	1.37:g.111996969G>T	ENSP00000358737:p.Gly72Cys		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_B_chain/sub_B/MI25	p.G72C	ENST00000369722.3	37	c.214	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671412	0.88348	.	.	ENSG00000116459	ENST00000369722	T	0.61627	0.09	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80627	-0.1298	10	0.87932	D	0	.	17.7882	0.88545	0.0:0.0:1.0:0.0	.	72;72	Q08ET0;P24539	.;AT5F1_HUMAN	C	72	ENSP00000358737:G72C	ENSP00000358737:G72C	G	+	1	0	ATP5F1	111798492	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.827000	0.92041	2.373000	0.80994	0.467000	0.42956	GGT	ATP5F1	-	NULL	ENSG00000116459		0.418	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1		0	32	0	G	NM_001688		111996969	1			no_errors	ENST00000369722	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	111996969	G	T	111996969	3	4	39	1	0	0	0	0	1	0	0	0	1153	1348	47	3	224	3	ATP5F1	1	111996969	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8641893	111996969	137253652	11	9325											
HIPK1	204851	genome.wustl.edu	37	chr1	114508756	114508756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtttccttacagcaggCgtggcctggagggactcagc	6	10	15	10	1	1	0	1	0	0	0	2	2	2	2	2	4	3	2	2	4	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:114508756C>T	ENST00000369558.1	+	11	2475	c.2243C>T	c.(2242-2244)gCg>gTg	p.A748V	HIPK1_ENST00000340480.4_Missense_Mutation_p.A374V|HIPK1_ENST00000406344.1_Missense_Mutation_p.A354V|HIPK1_ENST00000369561.4_Missense_Mutation_p.A714V|HIPK1_ENST00000369554.2_Missense_Mutation_p.A703V|HIPK1_ENST00000369553.1_Missense_Mutation_p.A354V|HIPK1_ENST00000369555.2_Missense_Mutation_p.A703V|HIPK1_ENST00000426820.2_Missense_Mutation_p.A748V|HIPK1_ENST00000369559.4_Missense_Mutation_p.A748V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	748					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACAGCAGGCGTGGCCTGGA	0.418																																																	0													92	85	87					1																	114508756		2203	4300	6503	SO:0001583	missense	0			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2243C>T	1.37:g.114508756C>T	ENSP00000358571:p.Ala748Val		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A748V	ENST00000369558.1	37	c.2243	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612914	0.87258	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.60548	0.24;0.18;0.31;0.48;0.48;0.31;0.24;3.34;2.43;2.43	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.61999	0.2392	L	0.29908	0.895	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;0.996;0.89	D;D;P;B	0.87578	0.998;0.95;0.716;0.364	T	0.61559	-0.7038	10	0.46703	T	0.11	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	40;354;748;748	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2	.;.;HIPK1_HUMAN;.	V	819;748;748;703;703;748;714;374;354;354	ENSP00000407442:A819V;ENSP00000358572:A748V;ENSP00000409673:A748V;ENSP00000358567:A703V;ENSP00000358568:A703V;ENSP00000358571:A748V;ENSP00000358574:A714V;ENSP00000340956:A374V;ENSP00000358566:A354V;ENSP00000384960:A354V	ENSP00000340956:A374V	A	+	2	0	HIPK1	114310279	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.400000	0.52594	2.752000	0.94435	0.655000	0.94253	GCG	HIPK1	-	NULL	ENSG00000163349		0.418	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1		0	54	0	C	NM_198268		114508756	1			no_errors	ENST00000369558	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	114508756	C	T	114508756	3	4	39	1	0	0	0	0	1	0	0	0	7143	768	27	1	2299	1	HIPK1	1	114508756	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2511787	114508756	134741865	12	9326											
CSDE1	7812	genome.wustl.edu	37	chr1	115268876	115268877	+	Frame_Shift_Ins	INS	-	-	AATC																															catgattggctgtttcaataINSaatccaaaattatccttcag																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:115268876_115268877insAATC	ENST00000358528.4	-	14	2021_2022	c.1595_1596insGATT	c.(1594-1596)tttfs	p.F532fs	CSDE1_ENST00000339438.6_Frame_Shift_Ins_p.F501fs|CSDE1_ENST00000438362.2_Frame_Shift_Ins_p.F578fs|Y_RNA_ENST00000365030.1_RNA|CSDE1_ENST00000369530.1_Frame_Shift_Ins_p.F547fs|CSDE1_ENST00000530886.1_Frame_Shift_Ins_p.F402fs|CSDE1_ENST00000261443.5_Frame_Shift_Ins_p.F501fs|CSDE1_ENST00000534699.1_Frame_Shift_Ins_p.F532fs	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	532	CSD 7.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTTTCAATAAATCCAAAATT	0.406																																																	0																																										SO:0001589	frameshift_variant	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"upstream of NRAS"	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1592_1595dupGATT	1.37:g.115268877_115268880dupAATC	ENSP00000351329:p.Phe532fs		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Frame_Shift_Ins	INS	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.F547fs	ENST00000358528.4	37	c.1641_1640	CCDS30812.1	1																																																																																			CSDE1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	ENSG00000009307		0.406	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1		0	58	0	-	NM_007158		115268877	-1	tier1		no_errors	ENST00000369530	ensembl	human	known	74_37	frame_shift_ins	23.94	54	17	INS	1.000:1.000	AATC	AATC	115268877	-	AATC	115268876	7	5	39	1	0	1	1	0	0	0	0	0	3938	359	13	0	828	0	CSDE1	1	115268876	Frame_Shift_Ins	INS	-	TCGA-JY-A6FG-01A-11D-A33E-09	760120	115268876	133981745	13	9327											
SPAG17	200162	genome.wustl.edu	37	chr1	118514619	118514619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgcattattaatggCagcagatgcaacagaggatg	13	11	11	6	0	0	3	0	1	0	2	0	4	0	4	0	2	4	4	0	2	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:118514619C>A	ENST00000336338.5	-	45	6258	c.6193G>T	c.(6193-6195)Gcc>Tcc	p.A2065S	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2065						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTATTAATGGCAGCAGATGCA	0.388																																																	0													135	122	126					1																	118514619		2203	4300	6503	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6193G>T	1.37:g.118514619C>A	ENSP00000337804:p.Ala2065Ser		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.A2065S	ENST00000336338.5	37	c.6193	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	6.115	0.389518	0.11581	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.18338	2.22	5.46	3.36	0.38483	.	0.274240	0.26428	N	0.024439	T	0.06142	0.0159	L	0.55481	1.735	0.09310	N	1	P	0.41673	0.759	B	0.41860	0.368	T	0.23976	-1.0173	10	0.33141	T	0.24	.	3.8997	0.09155	0.1793:0.5981:0.0:0.2226	.	2065	Q6Q759	SPG17_HUMAN	S	2065;545	ENSP00000337804:A2065S	ENSP00000337804:A2065S	A	-	1	0	SPAG17	118316142	0.465000	0.25815	0.093000	0.20910	0.162000	0.22319	0.411000	0.21115	0.675000	0.31264	0.655000	0.94253	GCC	SPAG17	-	NULL	ENSG00000155761		0.388	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0	43	0	C	NM_206996		118514619	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	missense	37.84	45	28	SNP	0.170	A	A	118514619	C	A	118514619	3	1	39	1	0	0	0	0	1	0	0	0	15026	710	25	3	494	3	SPAG17	1	118514619	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	3245743	118514619	130736002	14	9328											
PDE4DIP	9659	genome.wustl.edu	37	chr1	145075752	145075752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggactgaggggttcgCgtcgcgtccccggaccggta	4	7	18	12	7	0	1	0	1	0	0	3	3	1	3	3	6	0	2	3	6	1	2	rs374020871		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:145075752C>T	ENST00000530740.1	-	1	149	c.111G>A	c.(109-111)acG>acA	p.T37T	PDE4DIP_ENST00000369348.3_Silent_p.T37T|PDE4DIP_ENST00000369345.4_Silent_p.T37T|PDE4DIP_ENST00000369359.4_Silent_p.T37T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGGGTTCGCGTCGCGTCCC	0.726			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0								C		0,4406		0,0,2203	41	53	49		111	-1.3	0	1		49	1,8593		0,1,4296	no	coding-synonymous	PDE4DIP	NM_022359.5		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		37/311	145075752	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.111G>A	1.37:g.145075752C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc	p.T37	ENST00000530740.1	37	c.111		1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.726	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000384663.2		0	153	0	C	NM_022359		145075752	-1			no_errors	ENST00000369348	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.000	T	T	145075752	C	T	145075752	2	4	39	1	0	0	0	0	0	0	0	1	11682	755	27	1		1	PDE4DIP	1	145075752	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	26561133	145075752	104174869	15	9329											
BOLA1	51027	genome.wustl.edu	37	chr1	149871805	149871805	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggtcccgcctggcagtGagactcacttccgcgtggct	5	8	13	15	5	1	1	1	1	0	1	3	2	3	1	3	3	0	2	3	3	0	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:149871805G>T	ENST00000369153.2	+	3	857	c.193G>T	c.(193-195)Gag>Tag	p.E65*	BOLA1_ENST00000369152.5_Nonsense_Mutation_p.E65*|BOLA1_ENST00000369150.1_Nonsense_Mutation_p.E65*|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	65						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.E65K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCTGGCAGTGAGACTCACTT	0.677																																																	1	Substitution - Missense(1)	lung(1)											39	36	37					1																	149871805		2203	4298	6501	SO:0001587	stop_gained	0			AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.193G>T	1.37:g.149871805G>T	ENSP00000358149:p.Glu65*		B2R7K2|D3DUZ4|Q5QNY0	Nonsense_Mutation	SNP	pfam_BolA,superfamily_BolA	p.E65*	ENST00000369153.2	37	c.193	CCDS939.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.476784	0.97598	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	.	.	.	5.35	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0065	11.3972	0.49849	0.0881:0.0:0.9119:0.0	.	.	.	.	X	65	.	ENSP00000358146:E65X	E	+	1	0	BOLA1	148138429	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.527000	0.73803	2.668000	0.90789	0.462000	0.41574	GAG	BOLA1	-	pfam_BolA,superfamily_BolA	ENSG00000178096		0.677	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BOLA1	HGNC	protein_coding	OTTHUMT00000033443.2		0	72	0	G	NM_016074		149871805	1			no_errors	ENST00000369150	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	T	T	149871805	G	T	149871805	4	4	39	1	0	0	0	0	0	1	0	0	1487	1291	45	3	195	3	BOLA1	1	149871805	Nonsense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4796053	149871805	99378816	16	9330											
FLG	2312	genome.wustl.edu	37	chr1	152278839	152278841	+	In_Frame_Del	DEL	TGT	TGT	-																															cctgattgttcctcattacgTgttgttctgcttgcacttct																								rs576152401	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:152278839_152278841delTGT	ENST00000368799.1	-	3	8556_8558	c.8521_8523delACA	c.(8521-8523)acadel	p.T2841del	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2841	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCATTACGTGTTGTTCTGCTT	0.567									Ichthyosis																																								0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8521_8523delACA	1.37:g.152278842_152278844delTGT	ENSP00000357789:p.Thr2841del		Q01720|Q5T583|Q9UC71	In_Frame_Del	DEL	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.T2841in_frame_del	ENST00000368799.1	37	c.8523_8521	CCDS30860.1	1																																																																																			FLG	-	NULL	ENSG00000143631		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1		0	197	0	TGT	NM_002016		152278841	-1	tier1		no_errors	ENST00000368799	ensembl	human	known	74_37	in_frame_del	14.58	123	21	DEL	0.000:0.000:0.000	-	-	152278841	TGT	-	152278839	7	5	39	1	0	1	0	1	0	0	0	0	5944	1683	59	0	3666	0	FLG	1	152278839	In_Frame_Del	DEL	TGT	TCGA-JY-A6FG-01A-11D-A33E-09	2407034	152278839	96971782	17	9331											
DENND4B	9909	genome.wustl.edu	37	chr1	153905768	153905768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagagaagattctgagaggtCccactcactgcccagagagg	12	6	13	10	0	2	4	1	1	1	4	3	8	3	4	2	2	1	0	2	2	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:153905768C>T	ENST00000361217.4	-	21	3776	c.3358G>A	c.(3358-3360)Gac>Aac	p.D1120N	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1120	Ser-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGAGAGGTCCCACTCACTG	0.557																																																	0													47	52	50					1																	153905768		2048	4197	6245	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3358G>A	1.37:g.153905768C>T	ENSP00000354597:p.Asp1120Asn		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D1120N	ENST00000361217.4	37	c.3358	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573345	0.65765	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.08720	3.09;3.06	5.17	4.26	0.50523	.	0.228496	0.43919	D	0.000505	T	0.05044	0.0135	N	0.24115	0.695	0.42866	D	0.994125	D	0.55172	0.97	P	0.51297	0.665	T	0.42965	-0.9420	10	0.45353	T	0.12	-22.3444	12.4829	0.55854	0.0:0.9183:0.0:0.0817	.	1120	O75064	DEN4B_HUMAN	N	1120;1131	ENSP00000354597:D1120N;ENSP00000357635:D1131N	ENSP00000354597:D1120N	D	-	1	0	DENND4B	152172392	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.706000	0.61845	1.411000	0.46957	0.455000	0.32223	GAC	DENND4B	-	NULL	ENSG00000198837		0.557	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0	50	0	C	XM_375806		153905768	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	T	T	153905768	C	T	153905768	3	4	39	1	0	0	0	0	1	0	0	0	4448	855	30	3	1164	3	DENND4B	1	153905768	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1626929	153905768	95344853	18	9332											
ADAR	103	genome.wustl.edu	37	chr1	154562755	154562755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctctgtgaaacccatgcGttctgccttctcgttctccc	5	14	6	16	2	4	1	0	1	4	0	6	1	4	1	4	0	4	2	4	0	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:154562755G>A	ENST00000368474.4	-	7	2600	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	ADAR_ENST00000292205.5_Missense_Mutation_p.R844C|ADAR_ENST00000368471.3_Missense_Mutation_p.R506C	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	801					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		AAACCCATGCGTTCTGCCTTC	0.557																																																	0													104	94	97					1																	154562755		2203	4300	6503	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2401C>T	1.37:g.154562755G>A	ENSP00000357459:p.Arg801Cys		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.R844C	ENST00000368474.4	37	c.2530	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844044	0.91197	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.16597	2.54;2.54;2.33;2.53	5.94	5.94	0.96194	.	0.053834	0.85682	D	0.000000	T	0.19327	0.0464	L	0.29908	0.895	0.80722	D	1	P;P;D	0.89917	0.854;0.854;1.0	B;B;P	0.60609	0.239;0.239;0.877	T	0.00607	-1.1647	10	0.66056	D	0.02	-14.9326	15.91	0.79467	0.0:0.0:0.8642:0.1358	.	782;801;801	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	C	844;801;506;796	ENSP00000292205:R844C;ENSP00000357459:R801C;ENSP00000357456:R506C;ENSP00000431794:R796C	ENSP00000292205:R844C	R	-	1	0	ADAR	152829379	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.218000	0.77991	2.816000	0.96949	0.563000	0.77884	CGC	ADAR	-	NULL	ENSG00000160710		0.557	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	-	0	86	0	G	NM_001111		154562755	-1	tier1	-	no_errors	ENST00000292205	ensembl	human	known	74_37	missense	40.48	50	34	SNP	1.000	A	A	154562755	G	A	154562755	3	1	39	1	0	0	0	0	1	0	0	0	281	1145	40	1	1315	1	ADAR	1	154562755	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	656987	154562755	94687866	19	9333											
ADAR	103	genome.wustl.edu	37	chr1	154569329	154569329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaccaacttgaattcagcaGcaaagccatgggagcgggcg	12	5	13	11	3	1	1	1	1	0	0	1	3	1	2	2	2	5	2	2	2	3	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:154569329G>T	ENST00000368474.4	-	6	2421	c.2222C>A	c.(2221-2223)gCt>gAt	p.A741D	ADAR_ENST00000292205.5_Missense_Mutation_p.A784D|ADAR_ENST00000368471.3_Missense_Mutation_p.A446D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	741	DRBM 3. {ECO:0000255|PROSITE- ProRule:PRU00266}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAATTCAGCAGCAAAGCCATG	0.557																																																	0													113	96	102					1																	154569329		2203	4300	6503	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.2222C>A	1.37:g.154569329G>T	ENSP00000357459:p.Ala741Asp		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.A784D	ENST00000368474.4	37	c.2351	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.080923	0.94050	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.27	5.27	0.74061	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.79375	0.4435	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.95;0.973;0.999	T	0.80281	-0.1448	10	0.62326	D	0.03	-13.3562	19.0782	0.93171	0.0:0.0:1.0:0.0	.	722;741;741	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	D	784;741;446;736	ENSP00000292205:A784D;ENSP00000357459:A741D;ENSP00000357456:A446D;ENSP00000431794:A736D	ENSP00000292205:A784D	A	-	2	0	ADAR	152835953	1.000000	0.71417	0.674000	0.29902	0.967000	0.64934	8.918000	0.92759	2.733000	0.93635	0.462000	0.41574	GCT	ADAR	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000160710		0.557	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2		0	95	0	G	NM_001111		154569329	-1			no_errors	ENST00000292205	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	154569329	G	T	154569329	3	4	39	1	0	0	0	0	1	0	0	0	281	971	34	3	1498	3	ADAR	1	154569329	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	6574	154569329	94681292	20	9334											
CD244	51744	genome.wustl.edu	37	chr1	160811229	160811229	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacttggcatctccctctGtccaggatcttcccctgccc	4	11	7	19	0	3	0	0	0	3	0	6	1	5	1	6	2	1	1	6	2	0	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:160811229G>A	ENST00000368033.3	-	3	523	c.441C>T	c.(439-441)gaC>gaT	p.D147D	CD244_ENST00000368034.4_Silent_p.D142D|CD244_ENST00000322302.7_Intron|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000368032.2_Silent_p.D142D			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	147	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATCTCCCTCTGTCCAGGATCT	0.522																																																	0													100	96	97					1																	160811229		2203	4300	6503	SO:0001819	synonymous_variant	0			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.441C>T	1.37:g.160811229G>A			Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Silent	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom	p.D147	ENST00000368033.3	37	c.441	CCDS53399.1	1																																																																																			CD244	-	pfscan_Ig-like_dom	ENSG00000122223		0.522	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	-	0	35	0	G	NM_016382		160811229	-1	tier1	-	no_errors	ENST00000368033	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.000	A	A	160811229	G	A	160811229	2	1	39	1	0	0	0	0	0	0	0	1	2994	1368	48	3		3	CD244	1	160811229	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	6241900	160811229	88439392	21	9335											
F5	2153	genome.wustl.edu	37	chr1	169519183	169519183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgtgggttcatcaaaCtctaagatgttccacttata	10	17	6	8	0	4	1	2	0	2	1	5	1	5	1	1	1	1	2	1	1	4	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:169519183C>A	ENST00000367797.3	-	10	1668	c.1467G>T	c.(1465-1467)gaG>gaT	p.E489D	F5_ENST00000367796.3_Missense_Mutation_p.E489D|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	489	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTTCATCAAACTCTAAGATGT	0.413																																																	0													229	204	213					1																	169519183		2203	4300	6503	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1467G>T	1.37:g.169519183C>A	ENSP00000356771:p.Glu489Asp		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E489D	ENST00000367797.3	37	c.1467	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734883	0.30774	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99051	-5.37;-5.37	5.64	2.72	0.32119	Cupredoxin (2);	0.308545	0.36591	N	0.002510	D	0.91439	0.7298	L	0.35414	1.06	0.35181	D	0.772479	B	0.29936	0.262	B	0.28139	0.086	D	0.84395	0.0557	9	0.17369	T	0.5	-8.1998	1.2553	0.01990	0.1458:0.4107:0.1417:0.3018	.	489	P12259	FA5_HUMAN	D	489	ENSP00000356771:E489D;ENSP00000356770:E489D	ENSP00000356770:E489D	E	-	3	2	F5	167785807	0.726000	0.28059	0.941000	0.38009	0.771000	0.43674	-0.138000	0.10374	0.314000	0.23086	0.609000	0.83330	GAG	F5	-	superfamily_Cupredoxin	ENSG00000198734		0.413	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	-	0	54	0	C	NM_000130		169519183	-1	tier1	-	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	43.48	39	30	SNP	0.860	A	A	169519183	C	A	169519183	3	1	39	1	0	0	0	0	1	0	0	0	5364	564	20	3	5271	3	F5	1	169519183	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8707954	169519183	79731438	22	9336											
DEGS1	8560	genome.wustl.edu	37	chr1	224380109	224380109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtactgtatgattttGtgatggatgatacaataagt	15	15	9	2	0	0	3	0	3	0	0	0	4	0	4	0	1	2	2	0	1	7	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:224380109G>T	ENST00000323699.4	+	3	1067	c.901G>T	c.(901-903)Gtg>Ttg	p.V301L	DEGS1_ENST00000391877.3_Missense_Mutation_p.V301L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	301					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GTATGATTTTGTGATGGATGA	0.393																																																	0													86	79	81					1																	224380109		2203	4300	6503	SO:0001583	missense	0			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"Fatty acid desaturases"	13709	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 1", "dihydroceramide desaturase 1"	615843	"degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.901G>T	1.37:g.224380109G>T	ENSP00000316476:p.Val301Leu			Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.V301L	ENST00000323699.4	37	c.901	CCDS1540.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214316	0.58452	.	.	ENSG00000143753	ENST00000323699;ENST00000391877	T;T	0.34275	1.37;1.37	5.85	4.94	0.65067	.	0.114376	0.64402	D	0.000010	T	0.35885	0.0947	L	0.54863	1.705	0.54753	D	0.999987	B	0.16396	0.017	B	0.23852	0.049	T	0.11084	-1.0602	9	.	.	.	.	14.8418	0.70230	0.0688:0.0:0.9312:0.0	.	301	O15121	DEGS1_HUMAN	L	301	ENSP00000316476:V301L;ENSP00000375749:V301L	.	V	+	1	0	DEGS1	222446732	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.200000	0.65158	1.470000	0.48102	0.561000	0.74099	GTG	DEGS1	-	pirsf_Sphingolipid_d4-desaturase	ENSG00000143753		0.393	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS1	HGNC	protein_coding	OTTHUMT00000091285.2	-	0	39	0	G			224380109	1	tier1	-	no_errors	ENST00000323699	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	224380109	G	T	224380109	3	4	39	1	0	0	0	0	1	0	0	0	4436	1377	48	3	911	3	DEGS1	1	224380109	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	54860926	224380109	24870512	23	9337											
AHCTF1	25909	genome.wustl.edu	37	chr1	247016531	247016531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctggttaagcctgcgCtcagagacaataggaccttc	10	10	9	12	1	1	1	1	0	0	1	3	3	2	2	3	2	2	2	3	2	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr1:247016531C>A	ENST00000391829.2	-	32	4548	c.4425G>T	c.(4423-4425)gaG>gaT	p.E1475D	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1484D|AHCTF1_ENST00000366508.1_Missense_Mutation_p.E1510D			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1475	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TAAGCCTGCGCTCAGAGACAA	0.408																																					Colon(145;197 1800 4745 15099 26333)												0													45	42	43					1																	247016531		2203	4300	6503	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4425G>T	1.37:g.247016531C>A	ENSP00000375705:p.Glu1475Asp		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.E1484D	ENST00000391829.2	37	c.4452		1	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879193	0.17395	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.35421	1.31;1.31;1.31	5.76	-0.668	0.11392	.	0.277134	0.32081	N	0.006607	T	0.28234	0.0697	M	0.68952	2.095	0.26797	N	0.969284	B;B;B	0.27997	0.197;0.028;0.016	B;B;B	0.30716	0.119;0.011;0.005	T	0.18618	-1.0331	10	0.40728	T	0.16	-11.7152	1.2405	0.01962	0.136:0.2333:0.1414:0.4893	.	336;1510;1475	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	D	1510;1484;1475	ENSP00000355464:E1510D;ENSP00000355465:E1484D;ENSP00000375705:E1475D	ENSP00000355465:E1484D	E	-	3	2	AHCTF1	245083154	0.879000	0.30193	0.902000	0.35471	0.003000	0.03518	0.153000	0.16323	-0.377000	0.07930	-1.078000	0.02229	GAG	AHCTF1	-	NULL	ENSG00000153207		0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	27	0	C	NM_015446		247016531	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	48.28	15	14	SNP	0.845	A	A	247016531	C	A	247016531	3	1	39	1	0	0	0	0	1	0	0	0	408	796	28	3	2395	3	AHCTF1	1	247016531	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	22636422	247016531	2234090	24	9338											
ATAD2B	54454	genome.wustl.edu	37	chr2	24090761	24090761	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcacccactttcactcGttctcggagaataccgctag	8	11	8	14	3	2	1	1	0	1	1	4	2	2	1	2	1	2	4	2	1	3	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:24090761G>T	ENST00000238789.5	-	10	1475	c.1132C>A	c.(1132-1134)Cga>Aga	p.R378R		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	378						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTTCACTCGTTCTCGGAGA	0.343																																																	0													198	194	195					2																	24090761		1867	4099	5966	SO:0001819	synonymous_variant	0			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"ATPases / AAA-type"	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1132C>A	2.37:g.24090761G>T			B9ZVQ5|Q6ZNA6|Q8N9E7	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R378	ENST00000238789.5	37	c.1132	CCDS46227.1	2																																																																																			ATAD2B	-	NULL	ENSG00000119778		0.343	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	HGNC	protein_coding	OTTHUMT00000324333.1		0	46	0	G	NM_017552		24090761	-1			no_errors	ENST00000238789	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	24090761	G	T	24090761	2	4	39	1	0	0	0	0	0	0	0	1	1073	1153	40	2		2	ATAD2B	2	24090761	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		24090761	219108612	25	9339											
GTF3C2	2976	genome.wustl.edu	37	chr2	27551709	27551709	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaagaaaggggggctcAcccaaacggtgccttttcga	12	7	12	10	2	1	1	1	0	0	1	2	2	1	1	2	4	3	2	2	4	4	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:27551709A>G	ENST00000359541.2	-	15	2557		c.e15+1		GTF3C2_ENST00000264720.3_Splice_Site			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGGGCTCACCCAAACGGT	0.428																																																	0													52	53	53					2																	27551709		2203	4300	6503	SO:0001630	splice_region_variant	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2127+1T>C	2.37:g.27551709A>G			D6W557|Q16632|Q9BWI7	Splice_Site	SNP	-	e14+2	ENST00000359541.2	37	c.2127+2	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849430	0.51270	.	.	ENSG00000115207	ENST00000359541;ENST00000457098;ENST00000264720;ENST00000454704;ENST00000415683	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8488	0.63483	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTF3C2	27405213	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.954000	0.87848	2.226000	0.72624	0.459000	0.35465	.	GTF3C2	-	-	ENSG00000115207		0.428	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0	41	0	A		Intron	27551709	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	splice_site	29.79	33	14	SNP	1.000	G	G	27551709	A	G	27551709	5	3	39	1	0	0	0	0	0	0	1	0	6900	173	6	4	626	4	GTF3C2	2	27551709	Splice_Site	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	3460948	27551709	215647664	26	9340											
ANXA4	307	genome.wustl.edu	37	chr2	70033579	70033579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtgattgtggggatGatgacgcccacggtgctgta	8	9	17	7	2	0	3	0	3	0	0	0	5	0	4	1	4	2	3	1	4	1	2	rs371182766		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:70033579G>T	ENST00000394295.4	+	5	503	c.255G>T	c.(253-255)atG>atT	p.M85I	ANXA4_ENST00000409920.1_Intron|ANXA4_ENST00000536030.1_Start_Codon_SNP_p.M1I	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	83			T -> M (in dbSNP:rs2228203).		epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TTGTGGGGATGATGACGCCCA	0.527																																																	0													206	145	166					2																	70033579		2203	4300	6503	SO:0001583	missense	0			M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"Annexins"	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.255G>T	2.37:g.70033579G>T	ENSP00000377833:p.Met85Ile		B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV	p.M85I	ENST00000394295.4	37	c.255	CCDS1894.1	2	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412341	0.25465	.	.	ENSG00000196975	ENST00000394295;ENST00000536030	T;T	0.10860	2.83;2.83	4.97	4.08	0.47627	Annexin repeat, conserved site (1);	0.233066	0.44688	D	0.000421	T	0.07188	0.0182	N	0.21282	0.65	0.29286	N	0.869713	B;B	0.18968	0.032;0.009	B;B	0.22386	0.039;0.039	T	0.24012	-1.0172	9	.	.	.	.	8.6722	0.34156	0.0:0.1665:0.6612:0.1723	.	83;85	P09525;Q6LES2	ANXA4_HUMAN;.	I	85;1	ENSP00000377833:M85I;ENSP00000441931:M1I	.	M	+	3	0	ANXA4	69887083	1.000000	0.71417	0.983000	0.44433	0.011000	0.07611	5.833000	0.69349	1.208000	0.43306	-0.315000	0.08773	ATG	ANXA4	-	smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV	ENSG00000196975		0.527	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA4	HGNC	protein_coding	OTTHUMT00000251848.2	-	0	53	0	G	NM_001153		70033579	1	tier1	-	no_errors	ENST00000394295	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	70033579	G	T	70033579	3	4	39	1	0	0	0	0	1	0	0	0	720	1290	45	3	269	3	ANXA4	2	70033579	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	42481870	70033579	173165794	27	9341											
ALMS1	7840	genome.wustl.edu	37	chr2	73677770	73677770	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgaccagacaactggCacaccaactgtaacctctac	13	7	6	15	0	1	2	0	1	1	1	1	2	1	2	4	1	4	3	4	1	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:73677770C>A	ENST00000264448.6	+	8	4224	c.4113C>A	c.(4111-4113)ggC>ggA	p.G1371G	ALMS1_ENST00000377715.1_Silent_p.G1371G|ALMS1_ENST00000409009.1_Silent_p.G1329G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1371	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGACAACTGGCACACCAACTG	0.453																																																	0													82	85	84					2																	73677770		1865	4101	5966	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4113C>A	2.37:g.73677770C>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.G1371	ENST00000264448.6	37	c.4113	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.453	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	47	0	C	NM_015120		73677770	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	silent	36.11	46	26	SNP	0.000	A	A	73677770	C	A	73677770	2	1	39	1	0	0	0	0	0	0	0	1	535	697	25	3		3	ALMS1	2	73677770	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	3644191	73677770	169521603	28	9342											
PTCD3	55037	genome.wustl.edu	37	chr2	86352947	86352947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacatttaatgcattgattGaagcaacagtatgtgcgata	15	12	8	6	1	0	2	0	2	0	0	0	3	0	2	0	0	4	3	0	0	5	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:86352947G>A	ENST00000254630.7	+	12	961	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	PTCD3_ENST00000409277.3_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	299					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TGCATTGATTGAAGCAACAGT	0.313																																																	0													51	54	53					2																	86352947		2203	4300	6503	SO:0001583	missense	0				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.895G>A	2.37:g.86352947G>A	ENSP00000254630:p.Glu299Lys		A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	NULL	p.E299K	ENST00000254630.7	37	c.895	CCDS33235.1	2	.	.	.	.	.	.	.	.	.	.	G	9.388	1.074691	0.20227	.	.	ENSG00000132300	ENST00000254630	T	0.28666	1.6	6.02	5.14	0.70334	.	0.715644	0.14821	N	0.296471	T	0.18045	0.0433	N	0.20445	0.575	0.80722	D	1	B	0.11235	0.004	B	0.16289	0.015	T	0.06698	-1.0812	10	0.12103	T	0.63	-15.1636	8.2798	0.31894	0.0787:0.0:0.7673:0.154	.	299	Q96EY7	PTCD3_HUMAN	K	299	ENSP00000254630:E299K	ENSP00000254630:E299K	E	+	1	0	PTCD3	86206458	0.996000	0.38824	0.995000	0.50966	0.079000	0.17450	1.426000	0.34870	1.552000	0.49463	0.655000	0.94253	GAA	PTCD3	-	NULL	ENSG00000132300		0.313	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD3	HGNC	protein_coding	OTTHUMT00000329854.1		0	61	0	G	NM_017952		86352947	1			no_errors	ENST00000254630	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.998	A	A	86352947	G	A	86352947	3	1	39	1	0	0	0	0	1	0	0	0	12771	1291	45	3	941	3	PTCD3	2	86352947	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	12675177	86352947	156846426	29	9343											
KDM3A	55818	genome.wustl.edu	37	chr2	86716722	86716722	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaaagagaagccaggAgcactgtggcacatatatgc	16	5	13	7	0	0	1	0	0	0	1	0	5	0	3	1	3	3	2	1	3	6	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:86716722A>T	ENST00000409556.1	+	24	3878	c.3513A>T	c.(3511-3513)ggA>ggT	p.G1171G	KDM3A_ENST00000409064.1_Silent_p.G1171G|KDM3A_ENST00000312912.5_Silent_p.G1171G|KDM3A_ENST00000542128.1_Silent_p.G1119G			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1171	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AGAAGCCAGGAGCACTGTGGC	0.423																																					NSCLC(96;1150 1523 6936 46253 49736)												0													107	100	103					2																	86716722		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3513A>T	2.37:g.86716722A>T			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G1171	ENST00000409556.1	37	c.3513	CCDS1990.1	2																																																																																			KDM3A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000115548		0.423	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	-	0	27	0	A	NM_018433		86716722	1	tier1	-	no_errors	ENST00000312912	ensembl	human	known	74_37	silent	27.78	25	10	SNP	0.966	T	T	86716722	A	T	86716722	2	4	39	1	0	0	0	0	0	0	0	1	8153	291	11	5		5	KDM3A	2	86716722	Silent	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	363775	86716722	156482651	30	9344											
MERTK	10461	genome.wustl.edu	37	chr2	112786094	112786094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagagctctgagggcctgGcccagggctccacccttgct	5	8	14	14	0	1	2	0	1	1	1	2	3	2	2	4	4	2	3	4	4	0	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:112786094G>T	ENST00000295408.4	+	19	2910	c.2653G>T	c.(2653-2655)Gcc>Tcc	p.A885S	MERTK_ENST00000421804.2_Missense_Mutation_p.A885S|MERTK_ENST00000409780.1_Missense_Mutation_p.A709S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	885					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAGGGCCTGGCCCAGGGCTC	0.537																																																	0													129	132	131					2																	112786094		2203	4300	6503	SO:0001583	missense	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2653G>T	2.37:g.112786094G>T	ENSP00000295408:p.Ala885Ser		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A885S	ENST00000295408.4	37	c.2653	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802218	0.31869	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;D	0.83914	-0.92;-0.92;-0.89;-1.78	5.73	2.91	0.33838	.	0.252497	0.20450	U	0.092101	T	0.76807	0.4039	M	0.64997	1.995	0.09310	N	1	B	0.20887	0.049	B	0.22386	0.039	T	0.65240	-0.6216	10	0.41790	T	0.15	-4.5217	4.2848	0.10850	0.3609:0.1625:0.4766:0.0	.	885	Q12866	MERTK_HUMAN	S	885;885;544;709;209	ENSP00000295408:A885S;ENSP00000389152:A885S;ENSP00000387277:A709S;ENSP00000412660:A209S	ENSP00000295408:A885S	A	+	1	0	MERTK	112502565	0.014000	0.17966	0.001000	0.08648	0.570000	0.35934	1.957000	0.40392	0.332000	0.23536	0.655000	0.94253	GCC	MERTK	-	superfamily_Rhodanese-like_dom	ENSG00000153208		0.537	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	-	0	53	0	G			112786094	1	tier1	-	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.001	T	T	112786094	G	T	112786094	3	4	39	1	0	0	0	0	1	0	0	0	9517	1203	42	3	2727	3	MERTK	2	112786094	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	26069372	112786094	130413279	31	9345											
CCDC93	54520	genome.wustl.edu	37	chr2	118704391	118704391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcagagcctttacctttTcatctccacgtggtgctctc	7	15	6	13	1	4	1	2	0	2	1	6	1	4	1	3	1	3	1	3	1	2	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:118704391T>A	ENST00000376300.2	-	16	1429	c.1292A>T	c.(1291-1293)gAa>gTa	p.E431V	CCDC93_ENST00000319432.5_Missense_Mutation_p.E430V	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	431										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTTTACCTTTTCATCTCCACG	0.413																																																	0													166	141	149					2																	118704391		2203	4300	6503	SO:0001583	missense	0			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1292A>T	2.37:g.118704391T>A	ENSP00000365477:p.Glu431Val		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	pfam_DUF2037	p.E431V	ENST00000376300.2	37	c.1292	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028092	0.35797	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.23552	1.9;1.93	5.39	1.74	0.24563	.	0.359821	0.31246	N	0.007986	T	0.17109	0.0411	L	0.37630	1.12	0.35873	D	0.828352	B	0.15930	0.015	B	0.17098	0.017	T	0.08249	-1.0731	10	0.49607	T	0.09	-3.5585	5.096	0.14733	0.1369:0.1281:0.0:0.735	.	431	Q567U6	CCD93_HUMAN	V	431;430	ENSP00000365477:E431V;ENSP00000324135:E430V	ENSP00000324135:E430V	E	-	2	0	CCDC93	118420861	0.995000	0.38212	0.337000	0.25536	0.533000	0.34776	1.804000	0.38873	0.145000	0.18977	0.533000	0.62120	GAA	CCDC93	-	NULL	ENSG00000125633		0.413	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	-	0	40	0	T	NM_019044		118704391	-1	tier1	-	no_errors	ENST00000376300	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.898	A	A	118704391	T	A	118704391	3	1	39	1	0	0	0	0	1	0	0	0	2879	1783	62	5	639	5	CCDC93	2	118704391	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	5918297	118704391	124494982	32	9346											
THSD7B	80731	genome.wustl.edu	37	chr2	138033559	138033559	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggcagggaataacgggCagcagtgaagcctgtggaaa	12	6	16	7	1	1	1	0	1	1	0	1	3	1	3	1	4	3	3	1	4	4	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:138033559C>A	ENST00000409968.1	+	12	2641	c.2463C>A	c.(2461-2463)ggC>ggA	p.G821G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.G821G|THSD7B_ENST00000413152.2_Silent_p.G790G			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	821	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAATAACGGGCAGCAGTGAAG	0.393																																																	0													93	101	98					2																	138033559		1885	4108	5993	SO:0001819	synonymous_variant	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2463C>A	2.37:g.138033559C>A				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G821	ENST00000409968.1	37	c.2463		2																																																																																			THSD7B	-	superfamily_Thrombospondin_1_rpt	ENSG00000144229		0.393	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	68	0	C	XM_046570.9		138033559	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	silent	44.94	49	40	SNP	0.190	A	A	138033559	C	A	138033559	2	1	39	1	0	0	0	0	0	0	0	1	15927	697	25	3		3	THSD7B	2	138033559	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	19329168	138033559	105165814	33	9347											
SPOPL	339745	genome.wustl.edu	37	chr2	139308582	139308582	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttcgagcaaaattcaaaTtttcccttctgaatgctaaa	15	13	5	8	1	2	1	1	1	1	0	4	2	3	1	1	0	2	3	1	0	7	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:139308582T>A	ENST00000280098.4	+	4	689	c.310T>A	c.(310-312)Ttt>Att	p.F104I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	104	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		AAAATTCAAATTTTCCCTTCT	0.348																																																	0													67	71	69					2																	139308582		2203	4299	6502	SO:0001583	missense	0				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"BTB/POZ domain containing"	27934	protein-coding gene	gene with protein product	"HIB homolog 2", "roadkill homolog 2"						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.310T>A	2.37:g.139308582T>A	ENSP00000280098:p.Phe104Ile			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.F104I	ENST00000280098.4	37	c.310	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	T	32	5.177618	0.94846	.	.	ENSG00000144228	ENST00000280098	T	0.66638	-0.22	5.48	5.48	0.80851	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.78285	0.4259	L	0.53780	1.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77978	-0.2384	10	0.44086	T	0.13	-13.3753	15.8579	0.78994	0.0:0.0:0.0:1.0	.	104	Q6IQ16	SPOPL_HUMAN	I	104	ENSP00000280098:F104I	ENSP00000280098:F104I	F	+	1	0	SPOPL	139025052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.191000	0.70037	0.528000	0.53228	TTT	SPOPL	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000144228		0.348	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	-	0	28	0	T			139308582	1	tier1	-	no_errors	ENST00000280098	ensembl	human	known	74_37	missense	30.56	50	22	SNP	1.000	A	A	139308582	T	A	139308582	3	1	39	1	0	0	0	0	1	0	0	0	15132	1493	52	5	320	5	SPOPL	2	139308582	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	1275023	139308582	103890791	34	9348											
LRP1B	53353	genome.wustl.edu	37	chr2	141299445	141299445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctgtgtacttgttggaCcgcagtatagctcttcttcc	5	15	8	13	1	2	0	0	0	2	0	4	1	4	1	4	1	2	5	4	1	3	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:141299445C>T	ENST00000389484.3	-	44	8261	c.7290G>A	c.(7288-7290)cgG>cgA	p.R2430R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2430					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTGTTGGACCGCAGTATAG	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													150	137	142					2																	141299445		2203	4299	6502	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7290G>A	2.37:g.141299445C>T			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R2430	ENST00000389484.3	37	c.7290	CCDS2182.1	2																																																																																			LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	62	0	C	NM_018557		141299445	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	30.65	43	19	SNP	0.996	T	T	141299445	C	T	141299445	2	4	39	1	0	0	0	0	0	0	0	1	8990	494	18	3		3	LRP1B	2	141299445	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1990863	141299445	101899928	35	9349											
FIGN	55137	genome.wustl.edu	37	chr2	164468131	164468132	+	Frame_Shift_Ins	INS	-	-	T																															ccggaatacttctctgcataINStttttttagtaggttggatg																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:164468131_164468132insT	ENST00000333129.3	-	3	524_525	c.210_211insA	c.(208-213)aaatatfs	p.Y71fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	71					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TTCTCTGCATATTTTTTTAGTA	0.48																																																	0																																										SO:0001589	frameshift_variant	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.211dupA	2.37:g.164468138_164468138dupT	ENSP00000333836:p.Tyr71fs		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y70fs	ENST00000333129.3	37	c.211_210	CCDS2221.2	2																																																																																			FIGN	-	NULL	ENSG00000182263		0.48	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2		0	39	0	-	NM_018086		164468132	-1	tier1		no_errors	ENST00000333129	ensembl	human	known	74_37	frame_shift_ins	26.53	36	13	INS	1.000:0.998	T	T	164468132	-	T	164468131	7	5	39	1	0	1	1	0	0	0	0	0	5913	449	16	0	2072	0	FIGN	2	164468131	Frame_Shift_Ins	INS	-	TCGA-JY-A6FG-01A-11D-A33E-09	23168686	164468131	78731242	36	9350											
GALNT3	2591	genome.wustl.edu	37	chr2	166611182	166611182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatacataattaatggtttGcctccttgattgttttctcc	8	19	6	8	0	1	1	0	1	1	0	3	1	2	1	3	1	2	3	3	1	4	9			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:166611182G>T	ENST00000392701.3	-	9	2356	c.1581C>A	c.(1579-1581)ggC>ggA	p.G527G	GALNT3_ENST00000409882.1_Silent_p.G265G	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	527	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTAATGGTTTGCCTCCTTGAT	0.363																																																	0													101	95	97					2																	166611182		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1581C>A	2.37:g.166611182G>T			Q53TG9|Q7Z476	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G527	ENST00000392701.3	37	c.1581	CCDS2226.1	2																																																																																			GALNT3	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000115339		0.363	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT3	HGNC	protein_coding	OTTHUMT00000255205.2	-	0	62	0	G	NM_004482		166611182	-1	tier1	-	no_errors	ENST00000392701	ensembl	human	known	74_37	silent	5.00	95	5	SNP	1.000	T	T	166611182	G	T	166611182	2	4	39	1	0	0	0	0	0	0	0	1	6239	1306	46	3		3	GALNT3	2	166611182	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2143051	166611182	76588191	37	9351											
METTL5	29081	genome.wustl.edu	37	chr2	170681016	170681016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctgcaatgtgcggcctgGtaggatactgttccagaagt	9	11	12	9	1	0	1	0	0	0	1	1	2	1	2	3	3	4	3	3	3	5	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:170681016G>T	ENST00000260953.5	-	1	408	c.92C>A	c.(91-93)aCc>aAc	p.T31N	METTL5_ENST00000410097.1_Missense_Mutation_p.T31N|METTL5_ENST00000409837.1_Missense_Mutation_p.T31N|METTL5_ENST00000409965.1_Missense_Mutation_p.T31N|UBR3_ENST00000272793.5_5'Flank|METTL5_ENST00000308099.3_Missense_Mutation_p.T31N|METTL5_ENST00000392640.2_Missense_Mutation_p.T31N|METTL5_ENST00000409340.1_Missense_Mutation_p.T31N	NM_014168.2	NP_054887.2	Q9NRN9	METL5_HUMAN	methyltransferase like 5	31							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						GTGCGGCCTGGTAGGATACTG	0.463											OREG0015052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													163	161	162					2																	170681016		2203	4300	6503	SO:0001583	missense	0			AF201938	CCDS33320.1	2q31.1	2011-01-28			ENSG00000138382	ENSG00000138382			25006	protein-coding gene	gene with protein product						11042152	Standard	XM_005246478		Approved	HSPC133	uc002ufn.3	Q9NRN9	OTTHUMG00000154117	ENST00000260953.5:c.92C>A	2.37:g.170681016G>T	ENSP00000260953:p.Thr31Asn	1887	D3DPC9|Q9NVX1	Missense_Mutation	SNP	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_RNA_cap_Gua-N2-MeTrfase,pfam_Methyltransf_11	p.T31N	ENST00000260953.5	37	c.92	CCDS33320.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.499577	0.96355	.	.	ENSG00000138382	ENST00000409837;ENST00000540464;ENST00000409340;ENST00000260953;ENST00000409965;ENST00000392640;ENST00000308099;ENST00000410097;ENST00000538491	T;T;T;T;T;T;T	0.60040	0.64;0.22;0.64;0.64;0.64;0.64;0.64	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	D	0.89836	0.3999	10	0.87932	D	0	-6.4611	19.6816	0.95965	0.0:0.0:1.0:0.0	.	31;31	B8ZZC8;Q9NRN9	.;METL5_HUMAN	N	31	ENSP00000386703:T31N;ENSP00000387106:T31N;ENSP00000260953:T31N;ENSP00000386582:T31N;ENSP00000376415:T31N;ENSP00000307903:T31N;ENSP00000387056:T31N	ENSP00000260953:T31N	T	-	2	0	METTL5	170389262	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.607000	0.98328	2.632000	0.89209	0.557000	0.71058	ACC	METTL5	-	NULL	ENSG00000138382		0.463	METTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METTL5	HGNC	protein_coding	OTTHUMT00000333957.1	-	0	63	0	G	NM_014168		170681016	-1	tier1	-	no_errors	ENST00000260953	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	170681016	G	T	170681016	3	4	39	1	0	0	0	0	1	0	0	0	9541	1261	44	3	565	3	METTL5	2	170681016	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4069834	170681016	72518357	38	9352											
UBR3	130507	genome.wustl.edu	37	chr2	170806482	170806482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagtagaatgaacaaacGcatcattgaagagatatgta	19	8	9	5	1	1	4	1	2	0	2	1	5	1	4	0	0	2	4	0	0	8	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:170806482G>A	ENST00000272793.5	+	23	3502	c.3452G>A	c.(3451-3453)cGc>cAc	p.R1151H	UBR3_ENST00000418381.1_Missense_Mutation_p.R1151H			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1151					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATGAACAAACGCATCATTGAA	0.373																																																	0													75	76	76					2																	170806482		2203	4300	6503	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3452G>A	2.37:g.170806482G>A	ENSP00000272793:p.Arg1151His		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R1151H	ENST00000272793.5	37	c.3452		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.05|17.05	3.289999|3.289999	0.59976|0.59976	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000392632|ENST00000272793;ENST00000442603;ENST00000418381	.|T;T	.|0.55930	.|0.49;0.49	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.054812	.|0.85682	.|D	.|0.000000	T|T	0.40247|0.40247	0.1109|0.1109	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B;B	.|0.16396	.|0.017;0.007	.|B;B	.|0.10450	.|0.005;0.003	T|T	0.21075|0.21075	-1.0256|-1.0256	5|10	.|0.21540	.|T	.|0.41	.|.	10.2995|10.2995	0.43644|0.43644	0.1452:0.0:0.8548:0.0|0.1452:0.0:0.8548:0.0	.|.	.|1151;1151	.|Q6ZT12;E7EVK3	.|UBR3_HUMAN;.	T|H	209|1151	.|ENSP00000272793:R1151H;ENSP00000396068:R1151H	.|ENSP00000272793:R1151H	A|R	+|+	1|2	0|0	UBR3|UBR3	170514728|170514728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.614000|6.614000	0.74197|0.74197	2.712000|2.712000	0.92718|0.92718	0.650000|0.650000	0.86243|0.86243	GCA|CGC	UBR3	-	NULL	ENSG00000144357		0.373	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	-	0	36	0	G	NM_172070		170806482	1	tier1	-	no_errors	ENST00000272793	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	A	A	170806482	G	A	170806482	3	1	39	1	0	0	0	0	1	0	0	0	16952	1087	38	1	3542	1	UBR3	2	170806482	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	125466	170806482	72392891	39	9353											
WIPF1	7456	genome.wustl.edu	37	chr2	175436784	175436784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtaggcggcaggggaGgccggttggagaagggcgag	7	4	25	5	3	0	1	0	0	0	1	0	4	0	2	1	10	0	3	1	10	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:175436784G>A	ENST00000392547.2	-	5	848	c.749C>T	c.(748-750)cCt>cTt	p.P250L	WIPF1_ENST00000392546.2_Missense_Mutation_p.P250L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.P250L|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000272746.5_Missense_Mutation_p.P250L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P250L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P250L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	250					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.P250L(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CGGCAGGGGAGGCCGGTTGGA	0.657																																																	1	Substitution - Missense(1)	lung(1)											16	19	18					2																	175436784		2200	4296	6496	SO:0001583	missense	0			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.749C>T	2.37:g.175436784G>A	ENSP00000376330:p.Pro250Leu		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P250L	ENST00000392547.2	37	c.749	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023456	0.54683	.	.	ENSG00000115935	ENST00000392547;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415	T;T;T;T;T;T	0.63255	1.16;1.13;1.16;1.16;0.65;-0.03	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.68778	0.3038	M	0.68952	2.095	0.80722	D	1	P;D;P;P	0.60160	0.827;0.987;0.827;0.734	B;P;B;B	0.49528	0.439;0.614;0.439;0.254	T	0.75133	-0.3425	10	0.66056	D	0.02	.	16.8507	0.85993	0.0:0.0:1.0:0.0	.	250;250;250;250	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	L	250	ENSP00000376330:P250L;ENSP00000272746:P250L;ENSP00000352802:P250L;ENSP00000376329:P250L;ENSP00000386431:P250L;ENSP00000387150:P250L	ENSP00000272746:P250L	P	-	2	0	WIPF1	175145030	1.000000	0.71417	0.996000	0.52242	0.272000	0.26649	8.197000	0.89727	2.062000	0.61559	0.511000	0.50034	CCT	WIPF1	-	NULL	ENSG00000115935		0.657	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	-	0	92	0	G	NM_003387		175436784	-1	tier1	-	no_errors	ENST00000272746	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.998	A	A	175436784	G	A	175436784	3	1	39	1	0	0	0	0	1	0	0	0	17416	1000	35	3	778	3	WIPF1	2	175436784	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4630302	175436784	67762589	40	9354											
ZNF804A	91752	genome.wustl.edu	37	chr2	185801665	185801665	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgattatgaaattggAagtagcaaaaataaatgcag	18	10	8	5	0	1	2	1	2	0	0	1	3	1	3	0	1	2	3	0	1	8	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:185801665A>G	ENST00000302277.6	+	4	2136	c.1542A>G	c.(1540-1542)ggA>ggG	p.G514G		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	514							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGAAATTGGAAGTAGCAAAA	0.398																																																	0													85	90	88					2																	185801665		2188	4295	6483	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1542A>G	2.37:g.185801665A>G			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.G514	ENST00000302277.6	37	c.1542	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.398	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1		0	33	0	A	NM_194250		185801665	1			no_errors	ENST00000302277	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.001	G	G	185801665	A	G	185801665	2	3	39	1	0	0	0	0	0	0	0	1	18218	233	9	4		4	ZNF804A	2	185801665	Silent	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	10364881	185801665	57397708	41	9355											
SLC19A3	80704	genome.wustl.edu	37	chr2	228566913	228566913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcaggtttttatctggtCcagataaatatgggataagg	11	14	12	4	0	2	1	1	0	1	1	3	2	3	2	1	5	0	1	1	5	5	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:228566913C>A	ENST00000258403.3	-	2	193	c.122G>T	c.(121-123)gGa>gTa	p.G41V	SLC19A3_ENST00000541617.1_5'UTR|SLC19A3_ENST00000409287.1_Missense_Mutation_p.G41V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	41					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.G41V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TTTATCTGGTCCAGATAAATA	0.388																																																	1	Substitution - Missense(1)	lung(1)											106	111	109					2																	228566913		2203	4300	6503	SO:0001583	missense	0			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"Solute carriers"	16266	protein-coding gene	gene with protein product	"thiamine transporter 2"	606152	"solute carrier family 19, member 3"			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.122G>T	2.37:g.228566913C>A	ENSP00000258403:p.Gly41Val			Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.G41V	ENST00000258403.3	37	c.122	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865227	0.71949	.	.	ENSG00000135917	ENST00000409287;ENST00000258403;ENST00000456524;ENST00000419059;ENST00000409456	D;D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28;-2.28	5.67	3.87	0.44632	Major facilitator superfamily domain, general substrate transporter (1);	0.054589	0.85682	D	0.000000	D	0.94627	0.8268	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94949	0.8098	10	0.87932	D	0	-11.5939	12.4292	0.55565	0.0:0.862:0.0:0.138	.	41	Q9BZV2	S19A3_HUMAN	V	41	ENSP00000386298:G41V;ENSP00000258403:G41V;ENSP00000399001:G41V;ENSP00000398349:G41V;ENSP00000387193:G41V	ENSP00000258403:G41V	G	-	2	0	SLC19A3	228275157	1.000000	0.71417	0.973000	0.42090	0.975000	0.68041	1.572000	0.36461	0.855000	0.35359	-0.123000	0.14984	GGA	SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000135917		0.388	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	-	0	39	0	C			228566913	-1	tier1	-	no_errors	ENST00000258403	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	A	A	228566913	C	A	228566913	3	1	39	1	0	0	0	0	1	0	0	0	14475	855	30	3	1388	3	SLC19A3	2	228566913	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	42765248	228566913	14632460	42	9356											
TRAF3IP1	26146	genome.wustl.edu	37	chr2	239242647	239242647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcattgacaacaaaaacatCaaaacggcgatccaaaaatt	20	7	5	9	2	2	1	2	1	0	0	3	2	3	1	1	1	3	0	1	1	7	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:239242647C>T	ENST00000373327.4	+	7	1256	c.1034C>T	c.(1033-1035)tCa>tTa	p.S345L	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.S345L|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.S345L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	345	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ACAAAAACATCAAAACGGCGA	0.294																																																	0													57	56	56					2																	239242647		2202	4300	6502	SO:0001583	missense	0			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1034C>T	2.37:g.239242647C>T	ENSP00000362424:p.Ser345Leu		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	NULL	p.S345L	ENST00000373327.4	37	c.1034	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	C	6.049	0.377305	0.11466	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.24151	1.87;1.87;1.87	4.55	3.68	0.42216	.	0.740145	0.12835	N	0.435334	T	0.28532	0.0706	M	0.71581	2.175	0.43673	D	0.996109	B;B	0.26258	0.045;0.145	B;B	0.26416	0.006;0.069	T	0.02676	-1.1125	10	0.30854	T	0.27	-1.3718	9.4063	0.38464	0.0:0.8985:0.0:0.1015	.	345;345	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	L	345	ENSP00000375851:S345L;ENSP00000362424:S345L;ENSP00000375852:S345L	ENSP00000362424:S345L	S	+	2	0	TRAF3IP1	238907386	0.272000	0.24172	0.014000	0.15608	0.106000	0.19336	1.477000	0.35431	0.910000	0.36722	0.491000	0.48974	TCA	TRAF3IP1	-	NULL	ENSG00000204104		0.294	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1		0	75	0	C	NM_015650		239242647	1			no_errors	ENST00000373327	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.570	T	T	239242647	C	T	239242647	3	4	39	1	0	0	0	0	1	0	0	0	16488	838	29	3	1060	3	TRAF3IP1	2	239242647	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	10675734	239242647	3956726	43	9357											
RNPEPL1	57140	genome.wustl.edu	37	chr2	241513671	241513671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtggcccacagttggttCggcaacgctgtcaccaacgc	8	7	13	13	3	1	0	1	0	0	0	2	1	1	0	2	4	2	4	2	4	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:241513671C>T	ENST00000270357.4	+	5	980	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	129					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ACAGTTGGTTCGGCAACGCTG	0.612																																																	0													115	94	101					2																	241513671		2203	4300	6503	SO:0001819	synonymous_variant	0					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.387C>T	2.37:g.241513671C>T			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.F129	ENST00000270357.4	37	c.387		2																																																																																			RNPEPL1	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000142327		0.612	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	-	0	55	0	C	NM_018226		241513671	1	tier1	-	no_errors	ENST00000270357	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.780	T	T	241513671	C	T	241513671	2	4	39	1	0	0	0	0	0	0	0	1	13555	883	31	1		1	RNPEPL1	2	241513671	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2271024	241513671	1685702	44	9358											
HDLBP	3069	genome.wustl.edu	37	chr2	242181874	242181874	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgctccctccccatgctcaCcttctcctccgccagatgca	6	9	5	21	2	2	1	1	0	1	1	6	1	5	1	7	0	2	3	7	0	0	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr2:242181874C>A	ENST00000391975.1	-	17	2397		c.e17+1		HDLBP_ENST00000427183.2_Splice_Site|AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000391976.2_Splice_Site|HDLBP_ENST00000310931.4_Splice_Site	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCATGCTCACCTTCTCCTCC	0.577																																																	0													52	43	46					2																	242181874		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2169+1G>T	2.37:g.242181874C>A			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Splice_Site	SNP	-	e15+1	ENST00000391975.1	37	c.2169+1	CCDS2547.1	2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261686	0.39995	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000373292;ENST00000427487;ENST00000452931	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3001	0.90160	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HDLBP	241830547	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	7.755000	0.85180	2.338000	0.79540	0.585000	0.79938	.	HDLBP	-	-	ENSG00000115677		0.577	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5		0	47	0	C	NM_203346	Intron	242181874	-1			no_errors	ENST00000310931	ensembl	human	known	74_37	splice_site	5.41	35	2	SNP	1.000	A	A	242181874	C	A	242181874	5	1	39	1	0	0	0	0	0	0	1	0	7052	521	18	3	1684	3	HDLBP	2	242181874	Splice_Site	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	668203	242181874	1017499	45	9359											
LRRN1	57633	genome.wustl.edu	37	chr3	3886434	3886434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtgtccacaactttgcGtatgtgaaattcgtccctgg	8	13	11	9	2	0	2	0	2	0	0	3	2	2	2	2	1	2	1	2	1	3	3	rs375458276		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:3886434G>A	ENST00000319331.3	+	2	870	c.109G>A	c.(109-111)Gta>Ata	p.V37I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	37	LRRNT.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACAACTTTGCGTATGTGAAAT	0.453																																																	0								G	ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	137	125	129		109	5.8	0.2	3		129	0,8600		0,0,4300	no	missense	LRRN1	NM_020873.5	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	37/717	3886434	2,13004	2203	4300	6503	SO:0001583	missense	0			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.109G>A	3.37:g.3886434G>A	ENSP00000314901:p.Val37Ile		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V37I	ENST00000319331.3	37	c.109	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704691	0.88924	4.54E-4	0.0	ENSG00000175928	ENST00000319331	T	0.22134	1.97	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.58810	1.83	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.06991	-1.0796	10	0.37606	T	0.19	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	37	Q6UXK5	LRRN1_HUMAN	I	37	ENSP00000314901:V37I	ENSP00000314901:V37I	V	+	1	0	LRRN1	3861434	1.000000	0.71417	0.181000	0.23098	0.977000	0.68977	7.797000	0.85911	2.713000	0.92767	0.655000	0.94253	GTA	LRRN1	-	NULL	ENSG00000175928		0.453	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	-	0	53	0	G	NM_020873		3886434	1	tier1	-	no_errors	ENST00000319331	ensembl	human	known	74_37	missense	35.53	49	27	SNP	1.000	A	A	3886434	G	A	3886434	3	1	39	1	0	0	0	0	1	0	0	0	9069	1145	40	1	111	1	LRRN1	3	3886434	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		3886434	194135996	46	9360											
BRPF1	7862	genome.wustl.edu	37	chr3	9788006	9788006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattgatccaaagatgccccGagaaggtatgttccaccatg	12	9	9	11	1	0	3	0	1	0	2	2	4	2	3	5	1	1	2	5	1	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:9788006G>A	ENST00000457855.1	+	12	3340	c.3329G>A	c.(3328-3330)cGa>cAa	p.R1110Q	BRPF1_ENST00000433861.2_Missense_Mutation_p.R1015Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.R1109Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.R1110Q|BRPF1_ENST00000383829.2_Missense_Mutation_p.R1116Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1110	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R1116Q(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AAGATGCCCCGAGAAGGTATG	0.517																																																	1	Substitution - Missense(1)	urinary_tract(1)											101	102	102					3																	9788006		2203	4300	6503	SO:0001583	missense	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3329G>A	3.37:g.9788006G>A	ENSP00000410210:p.Arg1110Gln		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R1116Q	ENST00000457855.1	37	c.3347	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.100257	0.94245	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	6.06	6.06	0.98353	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.53658	0.1810	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.998	P;D;D;D	0.69824	0.876;0.966;0.966;0.948	T	0.42481	-0.9449	10	0.51188	T	0.08	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1015;1109;1116;1110	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	1015;1109;1116;1110;1110	ENSP00000402485:R1015Q;ENSP00000398863:R1109Q;ENSP00000373340:R1116Q;ENSP00000306297:R1110Q;ENSP00000410210:R1110Q	ENSP00000306297:R1110Q	R	+	2	0	BRPF1	9763006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CGA	BRPF1	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000156983		0.517	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	-	0	93	0	G	NM_001003694		9788006	1	tier1	-	no_errors	ENST00000383829	ensembl	human	known	74_37	missense	14.52	53	9	SNP	1.000	A	A	9788006	G	A	9788006	3	1	39	1	0	0	0	0	1	0	0	0	1524	1058	37	1	3393	1	BRPF1	3	9788006	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	5901572	9788006	188234424	47	9361											
MRPS25	64432	genome.wustl.edu	37	chr3	15106578	15106578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgactgacctggcgccctCgcccagctccccatgcgtgt	4	8	11	18	4	0	1	0	1	0	0	2	2	1	1	5	1	3	1	5	1	0	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:15106578C>T	ENST00000253686.2	-	1	264	c.124G>A	c.(124-126)Gag>Aag	p.E42K	MRPS25_ENST00000444840.2_Missense_Mutation_p.E42K|MRPS25_ENST00000449354.2_Missense_Mutation_p.E42K	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	42						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						CTGGCGCCCTCGCCCAGCTCC	0.642																																																	0													50	36	41					3																	15106578		2201	4299	6500	SO:0001583	missense	0			AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"Mitochondrial ribosomal proteins / small subunits"	14511	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S25"	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.124G>A	3.37:g.15106578C>T	ENSP00000253686:p.Glu42Lys		B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH	p.E42K	ENST00000253686.2	37	c.124	CCDS2622.1	3	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593178	0.66219	.	.	ENSG00000131368	ENST00000253686;ENST00000449354;ENST00000444840	.	.	.	4.85	4.85	0.62838	Ribosomal protein/NADH dehydrogenase domain (1);Thioredoxin-like fold (1);	0.151008	0.64402	D	0.000017	T	0.37785	0.1016	L	0.39514	1.22	0.80722	D	1	B;P;B	0.44429	0.291;0.835;0.051	B;B;B	0.28916	0.032;0.096;0.018	T	0.33163	-0.9879	9	0.15499	T	0.54	-44.8643	17.5974	0.88016	0.0:1.0:0.0:0.0	.	42;42;42	B4DFJ5;B4DQG6;P82663	.;.;RT25_HUMAN	K	42	.	ENSP00000253686:E42K	E	-	1	0	MRPS25	15081582	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.655000	0.67981	2.231000	0.72958	0.313000	0.20887	GAG	MRPS25	-	superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH	ENSG00000131368		0.642	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS25	HGNC	protein_coding	OTTHUMT00000252076.2	-	0	127	0	C	NM_022497		15106578	-1	tier1	-	no_errors	ENST00000253686	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	T	T	15106578	C	T	15106578	3	4	39	1	0	0	0	0	1	0	0	0	9874	893	31	1	413	1	MRPS25	3	15106578	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5318572	15106578	182915852	48	9362											
TBC1D5	9779	genome.wustl.edu	37	chr3	17470011	17470011	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccatttttatttgaatctCctggagaaaaaaattacgac	14	15	5	7	1	1	2	0	1	1	1	3	4	2	2	2	1	1	0	2	1	6	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:17470011C>A	ENST00000253692.7	-	4	1762	c.98G>T	c.(97-99)gGa>gTa	p.G33V	TBC1D5_ENST00000429383.4_Splice_Site_p.G33V|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Splice_Site_p.G33V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	33						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATTTGAATCTCCTGGAGAAAA	0.299																																																	0													30	34	33					3																	17470011		2197	4275	6472	SO:0001630	splice_region_variant	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.98-1G>T	3.37:g.17470011C>A			A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.G33V	ENST00000253692.7	37	c.98	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145828	0.37923	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000415814;ENST00000428355;ENST00000425944;ENST00000445294;ENST00000414349;ENST00000507877;ENST00000446863;ENST00000434420	T;T;T;T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.71	3.88	0.44766	.	0.600069	0.17526	N	0.171071	T	0.15782	0.0380	L	0.40543	1.245	0.80722	D	1	B;B	0.32245	0.361;0.309	B;B	0.29785	0.107;0.107	T	0.05257	-1.0896	10	0.38643	T	0.18	.	6.9909	0.24755	0.0:0.584:0.2701:0.1459	.	33;33	C9JP52;Q92609	.;TBCD5_HUMAN	V	33	ENSP00000253692:G33V;ENSP00000398127:G33V;ENSP00000402935:G33V;ENSP00000396239:G33V;ENSP00000387395:G33V;ENSP00000399967:G33V;ENSP00000410596:G33V;ENSP00000393882:G33V;ENSP00000424998:G33V;ENSP00000415379:G33V;ENSP00000414159:G33V	ENSP00000253692:G33V	G	-	2	0	TBC1D5	17445015	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.057000	0.30492	0.735000	0.32537	0.585000	0.79938	GGA	TBC1D5	-	NULL	ENSG00000131374		0.299	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	-	0	86	0	C	NM_014744	Missense_Mutation	17470011	-1	tier1	-	no_errors	ENST00000253692	ensembl	human	known	74_37	missense	40.27	89	60	SNP	0.996	A	A	17470011	C	A	17470011	5	1	39	1	0	0	0	0	0	0	1	0	15670	869	30	3	2435	3	TBC1D5	3	17470011	Splice_Site	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2363433	17470011	180552419	49	9363											
DCLK3	85443	genome.wustl.edu	37	chr3	36779064	36779064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaaagttcccatcccCaatgacccggccagtctcat	11	7	7	16	1	1	1	1	1	1	0	4	2	3	1	5	1	1	2	5	1	2	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:36779064C>A	ENST00000416516.2	-	2	1577	c.1087G>T	c.(1087-1089)Ggg>Tgg	p.G363W		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	363	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCCCATCCCCAATGACCCGG	0.567																																																	0													86	84	85					3																	36779064		2102	4241	6343	SO:0001583	missense	0			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1087G>T	3.37:g.36779064C>A	ENSP00000394484:p.Gly363Trp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G363W	ENST00000416516.2	37	c.1087	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276994	0.59758	.	.	ENSG00000163673	ENST00000416516	D	0.83075	-1.68	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33438	N	0.004920	D	0.95771	0.8624	H	0.99573	4.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97300	0.9930	10	0.87932	D	0	.	20.0957	0.97842	0.0:1.0:0.0:0.0	.	363	Q9C098	DCLK3_HUMAN	W	363	ENSP00000394484:G363W	ENSP00000394484:G363W	G	-	1	0	DCLK3	36754068	1.000000	0.71417	0.951000	0.38953	0.074000	0.17049	7.769000	0.85360	2.837000	0.97791	0.655000	0.94253	GGG	DCLK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163673		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	-	0	52	0	C	XM_047355		36779064	-1	tier1	-	no_errors	ENST00000416516	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A	A	36779064	C	A	36779064	3	1	39	1	0	0	0	0	1	0	0	0	4302	594	21	3	875	3	DCLK3	3	36779064	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	19309053	36779064	161243366	50	9364											
PLCD1	5333	genome.wustl.edu	37	chr3	38049856	38049856	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgctgccccgaaatGacctgaggaaaggcagagga	12	4	15	10	1	0	3	0	2	0	1	0	6	0	5	3	4	3	4	3	4	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:38049856G>T	ENST00000334661.4	-	13	2127	c.1905C>A	c.(1903-1905)gtC>gtA	p.V635V	PLCD1_ENST00000463876.1_Silent_p.V656V|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	635	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GCCCCGAAATGACCTGAGGAA	0.562																																																	0													65	65	65					3																	38049856		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1905C>A	3.37:g.38049856G>T			B3KR14|Q86VN8	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V656	ENST00000334661.4	37	c.1968	CCDS2671.1	3																																																																																			PLCD1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000187091		0.562	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	-	0	122	0	G			38049856	-1	tier1	-	no_errors	ENST00000463876	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	38049856	G	T	38049856	2	4	39	1	0	0	0	0	0	0	0	1	12070	1277	45	3		3	PLCD1	3	38049856	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1270792	38049856	159972574	51	9365											
CX3CR1	1524	genome.wustl.edu	37	chr3	39307429	39307429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatttgtttccacattgCggagcacgggccagatttcc	10	11	10	10	2	0	1	0	0	0	1	2	3	2	2	3	2	2	2	3	2	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:39307429C>T	ENST00000541347.1	-	2	811	c.572G>A	c.(571-573)cGc>cAc	p.R191H	CX3CR1_ENST00000358309.3_Missense_Mutation_p.R223H|CX3CR1_ENST00000542107.1_Missense_Mutation_p.R191H|CX3CR1_ENST00000399220.2_Missense_Mutation_p.R191H	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	191					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTCCACATTGCGGAGCACGGG	0.478																																																	0													102	102	102					3																	39307429		1897	4109	6006	SO:0001583	missense	0			BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"GPCR / Class A : Chemokine receptors : C-X-3-C motif"	2558	protein-coding gene	gene with protein product		601470	"chemokine (C-X3-C) receptor 1"	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.572G>A	3.37:g.39307429C>T	ENSP00000439140:p.Arg191His		A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.R223H	ENST00000541347.1	37	c.668	CCDS43069.1	3	.	.	.	.	.	.	.	.	.	.	C	7.548	0.662087	0.14645	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.62	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.559772	0.19091	N	0.122950	T	0.19765	0.0475	N	0.11201	0.11	0.09310	N	1	D	0.56287	0.975	P	0.47102	0.537	T	0.06463	-1.0825	10	0.16896	T	0.51	.	5.8438	0.18652	0.1513:0.6844:0.0:0.1643	.	191	P49238	CX3C1_HUMAN	H	191;199;223;191;191	ENSP00000382166:R191H;ENSP00000351059:R223H;ENSP00000439140:R191H;ENSP00000444928:R191H	ENSP00000351059:R223H	R	-	2	0	CX3CR1	39282433	0.000000	0.05858	0.086000	0.20670	0.214000	0.24535	-0.048000	0.11944	0.719000	0.32188	0.655000	0.94253	CGC	CX3CR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1	ENSG00000168329		0.478	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	HGNC	protein_coding	OTTHUMT00000343613.1	-	0	61	0	C	NM_001337		39307429	-1	tier1	-	no_errors	ENST00000358309	ensembl	human	known	74_37	missense	32.20	40	19	SNP	0.003	T	T	39307429	C	T	39307429	3	4	39	1	0	0	0	0	1	0	0	0	4084	768	27	1	499	1	CX3CR1	3	39307429	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1257573	39307429	158715001	52	9366											
SCAP	22937	genome.wustl.edu	37	chr3	47467001	47467001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagggtgggcgtcaggccGaagagtgtgcagagtcccac	8	7	17	9	2	1	3	1	1	0	2	2	4	2	3	2	3	1	1	2	3	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:47467001G>A	ENST00000265565.5	-	8	1423	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	SCAP_ENST00000441517.2_Silent_p.F82F|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	337	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCGTCAGGCCGAAGAGTGTGC	0.632																																					Pancreas(149;978 1908 29304 37806 46700)												0													71	68	69					3																	47467001		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1011C>T	3.37:g.47467001G>A			Q8N2E0|Q8WUA1	Silent	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F337	ENST00000265565.5	37	c.1011	CCDS2755.2	3																																																																																			SCAP	-	pfam_Patched,pfscan_SSD	ENSG00000114650		0.632	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2		0	55	0	G	NM_012235		47467001	-1			no_errors	ENST00000265565	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A	A	47467001	G	A	47467001	2	1	39	1	0	0	0	0	0	0	0	1	13922	1049	37	1		1	SCAP	3	47467001	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8159572	47467001	150555429	53	9367											
CCDC72	51372	genome.wustl.edu	37	chr3	48482033	48482033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggccgcggggaaggggcCcttgggtaagtgggggccga	7	4	22	8	3	0	0	0	0	0	0	0	3	0	1	3	8	0	1	3	8	3	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:48482033C>T	ENST00000438607.2	+	3	195	c.155C>T	c.(154-156)cCc>cTc	p.P52L	CCDC51_ENST00000412398.2_5'Flank|RP11-24C3.2_ENST00000438872.1_RNA|CCDC51_ENST00000442740.1_5'Flank|CCDC51_ENST00000447018.1_5'Flank|RP11-24C3.2_ENST00000435578.1_RNA|CCDC51_ENST00000395696.1_5'Flank|CCDC51_ENST00000395694.2_5'Flank	NM_015933.3	NP_057017.1	Q9Y2S6	TMA7_HUMAN	translation machinery associated 7 homolog (S. cerevisiae)	52										lung(1)	1						GGGAAGGGGCCCTTGGGTAAG	0.562																																																	0													15	21	19					3																	48482033		1876	4077	5953	SO:0001583	missense	0			AF077202	CCDS46823.1	3p21.31	2013-02-22	2013-02-22	2012-06-07	ENSG00000232112	ENSG00000232112			26932	protein-coding gene	gene with protein product		615808	"coiled-coil domain containing 72"	CCDC72		11042152, 15740594	Standard	NM_015933		Approved	HSPC016	uc003cte.1	Q9Y2S6	OTTHUMG00000156588	ENST00000438607.2:c.155C>T	3.37:g.48482033C>T	ENSP00000397843:p.Pro52Leu		Q9P052	Missense_Mutation	SNP	pfam_TMA7	p.P52L	ENST00000438607.2	37	c.155	CCDS46823.1	3	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957864	0.53400	.	.	ENSG00000232112	ENST00000438607	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	T	0.78323	0.4265	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	T	0.81881	-0.0729	7	0.87932	D	0	-5.0187	14.8666	0.70422	0.0:1.0:0.0:0.0	.	52	Q9Y2S6	CCD72_HUMAN	L	52	.	ENSP00000397843:P52L	P	+	2	0	CCDC72	48457037	0.993000	0.37304	1.000000	0.80357	0.880000	0.50808	3.649000	0.54417	2.261000	0.74972	0.462000	0.41574	CCC	TMA7	-	pfam_TMA7	ENSG00000232112		0.562	TMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMA7	HGNC	protein_coding	OTTHUMT00000344688.1	-	0	85	0	C	NM_015933		48482033	1	tier1	-	no_errors	ENST00000438607	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	T	T	48482033	C	T	48482033	3	4	39	1	0	0	0	0	1	0	0	0	2852	623	22	3	165	3	CCDC72	3	48482033	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1015032	48482033	149540397	54	9368											
RHOA	387	genome.wustl.edu	37	chr3	49412922	49412922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaaacactgtgggcacaTacacctctgggaactggtcc	10	9	9	13	0	2	0	1	0	2	0	4	1	3	1	2	3	3	1	2	3	3	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:49412922T>C	ENST00000418115.1	-	2	485	c.101A>G	c.(100-102)tAt>tGt	p.Y34C	RHOA_ENST00000454011.2_Missense_Mutation_p.Y34C|RHOA_ENST00000422781.1_Missense_Mutation_p.Y34C	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	34					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTGGGCACATACACCTCTGG	0.463																																																	0													156	144	148					3																	49412922		2203	4300	6503	SO:0001583	missense	0			BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"ras homolog gene family, member A"	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.101A>G	3.37:g.49412922T>C	ENSP00000400175:p.Tyr34Cys		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y34C	ENST00000418115.1	37	c.101	CCDS2795.1	3	.	.	.	.	.	.	.	.	.	.	T	24.6	4.549860	0.86127	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85969	0.5821	M	0.92880	3.355	0.80722	D	1	P	0.40834	0.73	P	0.54706	0.759	D	0.88567	0.3127	10	0.87932	D	0	.	15.1943	0.73075	0.0:0.0:0.0:1.0	.	34	P61586	RHOA_HUMAN	C	34	ENSP00000400175:Y34C;ENSP00000394483:Y34C;ENSP00000413587:Y34C;ENSP00000408402:Y34C;ENSP00000400747:Y34C	ENSP00000400175:Y34C	Y	-	2	0	RHOA	49387926	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.905000	0.87416	2.266000	0.75297	0.456000	0.33151	TAT	RHOA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000067560		0.463	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOA	HGNC	protein_coding	OTTHUMT00000346157.3	-	0	49	0	T	NM_001664		49412922	-1	tier1	-	no_errors	ENST00000418115	ensembl	human	known	74_37	missense	20.97	49	13	SNP	1.000	C	C	49412922	T	C	49412922	3	2	39	1	0	0	0	0	1	0	0	0	13376	1406	49	4	496	4	RHOA	3	49412922	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	930889	49412922	148609508	55	9369											
RRP9	9136	genome.wustl.edu	37	chr3	51968680	51968680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctgtgttgaggagggctgCcaccgacgatatccagaagg	9	8	15	9	2	1	2	0	1	1	1	2	5	2	3	3	3	1	2	3	3	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:51968680C>T	ENST00000232888.6	-	12	1220	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	383					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.A383T(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		AGGAGGGCTGCCACCGACGAT	0.667																																																	1	Substitution - Missense(1)	large_intestine(1)											52	54	53					3																	51968680		2203	4300	6503	SO:0001583	missense	0			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"WD repeat domain containing"	16829	protein-coding gene	gene with protein product			"RNA, U3 small nucleolar interacting protein 2"	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1147G>A	3.37:g.51968680C>T	ENSP00000232888:p.Ala383Thr		B2R996|Q8IZ30	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A383T	ENST00000232888.6	37	c.1147	CCDS2837.1	3	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508780	0.64410	.	.	ENSG00000114767	ENST00000232888	D	0.82803	-1.65	5.17	3.01	0.34805	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.054851	0.64402	D	0.000001	T	0.80884	0.4709	M	0.72576	2.205	0.80722	D	1	P	0.39748	0.686	B	0.38156	0.266	T	0.81773	-0.0779	10	0.52906	T	0.07	-6.9636	12.218	0.54416	0.0:0.8314:0.0:0.1686	.	383	O43818	U3IP2_HUMAN	T	383	ENSP00000232888:A383T	ENSP00000232888:A383T	A	-	1	0	RRP9	51943720	1.000000	0.71417	0.756000	0.31282	0.930000	0.56654	5.893000	0.69798	1.186000	0.42985	0.462000	0.41574	GCA	RRP9	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000114767		0.667	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1		0	41	0	C	NM_004704		51968680	-1			no_errors	ENST00000232888	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.997	T	T	51968680	C	T	51968680	3	4	39	1	0	0	0	0	1	0	0	0	13736	739	26	3	296	3	RRP9	3	51968680	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2555758	51968680	146053750	56	9370											
NEK4	6787	genome.wustl.edu	37	chr3	52773550	52773550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtttgaattctgacactgGgtttgctaccgggacatctt	9	14	10	8	1	2	2	0	2	2	0	2	3	2	3	1	2	2	3	1	2	3	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:52773550G>A	ENST00000233027.5	-	14	2396	c.2194C>T	c.(2194-2196)Cca>Tca	p.P732S	NEK4_ENST00000535191.1_Missense_Mutation_p.P643S|NEK4_ENST00000383721.4_Missense_Mutation_p.P686S	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	732					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TCTGACACTGGGTTTGCTACC	0.428																																																	0													203	203	203					3																	52773550		2203	4300	6503	SO:0001583	missense	0			L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"serine/threonine protein kinase-2"	601959	"serine/threonine kinase 2", "NIMA (never in mitosis gene a)-related kinase 4"	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.2194C>T	3.37:g.52773550G>A	ENSP00000233027:p.Pro732Ser		A5YM70|B2R633|B7Z200|Q6P576	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P732S	ENST00000233027.5	37	c.2194	CCDS2863.1	3	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067950	0.36470	.	.	ENSG00000114904	ENST00000233027;ENST00000535191;ENST00000383721;ENST00000461689	T;T;T;T	0.77229	-0.77;-0.87;-0.9;-1.08	5.87	4.06	0.47325	.	0.089967	0.49305	D	0.000155	D	0.84817	0.5556	M	0.72894	2.215	0.29653	N	0.843772	D;D;D	0.89917	0.997;1.0;0.972	P;D;P	0.74674	0.908;0.984;0.642	T	0.80616	-0.1303	10	0.72032	D	0.01	.	8.6539	0.34051	0.0774:0.0:0.7718:0.1508	.	643;686;732	B7Z200;P51957-2;P51957	.;.;NEK4_HUMAN	S	732;643;686;643	ENSP00000233027:P732S;ENSP00000437703:P643S;ENSP00000373227:P686S;ENSP00000419666:P643S	ENSP00000233027:P732S	P	-	1	0	NEK4	52748590	0.998000	0.40836	0.839000	0.33178	0.447000	0.32167	2.900000	0.48687	0.810000	0.34279	-0.142000	0.14014	CCA	NEK4	-	NULL	ENSG00000114904		0.428	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEK4	HGNC	protein_coding	OTTHUMT00000352386.2	-	0	64	0	G	NM_003157		52773550	-1	tier1	-	no_errors	ENST00000233027	ensembl	human	known	74_37	missense	28.92	59	24	SNP	0.738	A	A	52773550	G	A	52773550	3	1	39	1	0	0	0	0	1	0	0	0	10365	1232	43	3	343	3	NEK4	3	52773550	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	804870	52773550	145248880	57	9371											
CACNA2D3	55799	genome.wustl.edu	37	chr3	55038855	55038855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcagcgatggcgcccatgGcctcctggatgtaagtacta	10	8	12	11	2	0	0	0	0	0	0	1	2	1	1	3	3	3	3	3	3	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:55038855G>T	ENST00000474759.1	+	32	2804	c.2756G>T	c.(2755-2757)gGc>gTc	p.G919V	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G825V|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G919V|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G919V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	919						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GGCGCCCATGGCCTCCTGGAT	0.448																																																	0													107	103	104					3																	55038855		1960	4150	6110	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2756G>T	3.37:g.55038855G>T	ENSP00000419101:p.Gly919Val		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G919V	ENST00000474759.1	37	c.2756	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	G	12.67	2.006226	0.35415	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	6.17	5.29	0.74685	.	0.355474	0.33075	N	0.005315	T	0.48314	0.1493	N	0.08118	0	0.24725	N	0.993127	B	0.16396	0.017	B	0.20184	0.028	T	0.22556	-1.0213	10	0.16420	T	0.52	.	11.579	0.50881	0.1334:0.0:0.8666:0.0	.	919	Q8IZS8	CA2D3_HUMAN	V	919;919;919;825;825	ENSP00000389506:G919V;ENSP00000419101:G919V;ENSP00000288197:G919V;ENSP00000417279:G825V	ENSP00000288197:G919V	G	+	2	0	CACNA2D3	55013895	0.927000	0.31430	0.131000	0.22000	0.994000	0.84299	2.797000	0.47877	2.941000	0.99782	0.655000	0.94253	GGC	CACNA2D3	-	NULL	ENSG00000157445		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	-	0	42	0	G			55038855	1	tier1	-	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.122	T	T	55038855	G	T	55038855	3	4	39	1	0	0	0	0	1	0	0	0	2557	1203	42	3	2882	3	CACNA2D3	3	55038855	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2265305	55038855	142983575	58	9372											
CCDC80	151887	genome.wustl.edu	37	chr3	112324432	112324432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgtctccgaagttgcatCgaatcaattaaatcgtacac	12	12	6	11	3	2	0	1	0	1	0	6	2	3	0	2	0	2	3	2	0	6	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:112324432C>T	ENST00000206423.3	-	8	3638	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	CCDC80_ENST00000439685.2_Silent_p.S895S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	895					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GAAGTTGCATCGAATCAATTA	0.468																																																	0													126	103	110					3																	112324432		2203	4300	6503	SO:0001819	synonymous_variant	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.2685G>A	3.37:g.112324432C>T			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	NULL	p.S895	ENST00000206423.3	37	c.2685	CCDS2968.1	3																																																																																			CCDC80	-	NULL	ENSG00000091986		0.468	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	-	0	51	0	C	NM_199511		112324432	-1	tier1	-	no_errors	ENST00000206423	ensembl	human	known	74_37	silent	37.70	38	23	SNP	0.843	T	T	112324432	C	T	112324432	2	4	39	1	0	0	0	0	0	0	0	1	2861	871	31	1		1	CCDC80	3	112324432	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	57285577	112324432	85697998	59	9373											
FBXO40	51725	genome.wustl.edu	37	chr3	121341286	121341286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagagagactttgtttatgGcaagctggaggctcaggaag	11	9	16	5	0	1	2	1	0	0	2	1	6	1	4	0	5	1	4	0	5	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:121341286G>T	ENST00000338040.4	+	3	1424	c.1010G>T	c.(1009-1011)gGc>gTc	p.G337V		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	337					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TTTGTTTATGGCAAGCTGGAG	0.468																																																	0													92	79	83					3																	121341286		2203	4300	6503	SO:0001583	missense	0			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"F-boxes /  "other""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.1010G>T	3.37:g.121341286G>T	ENSP00000337510:p.Gly337Val		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF	p.G337V	ENST00000338040.4	37	c.1010	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635880	0.67130	.	.	ENSG00000163833	ENST00000338040	T	0.53423	0.62	5.73	5.73	0.89815	.	0.101878	0.64402	D	0.000001	T	0.68247	0.2980	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69281	-0.5186	10	0.66056	D	0.02	-19.9495	17.4071	0.87476	0.0:0.0:1.0:0.0	.	337	Q9UH90	FBX40_HUMAN	V	337	ENSP00000337510:G337V	ENSP00000337510:G337V	G	+	2	0	FBXO40	122823976	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.476000	0.97823	2.721000	0.93114	0.655000	0.94253	GGC	FBXO40	-	NULL	ENSG00000163833		0.468	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	-	0	21	0	G	NM_016298		121341286	1	tier1	-	no_errors	ENST00000338040	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	T	T	121341286	G	T	121341286	3	4	39	1	0	0	0	0	1	0	0	0	5771	1203	42	3	1016	3	FBXO40	3	121341286	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	9016854	121341286	76681144	60	9374											
DTX3L	151636	genome.wustl.edu	37	chr3	122289345	122289345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagataccctggaatacagcGaactgcatacttgcctgata	13	9	9	10	1	0	2	0	1	0	1	0	5	0	3	2	1	7	1	2	1	6	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:122289345G>A	ENST00000296161.4	+	4	2168	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	DTX3L_ENST00000383661.3_Missense_Mutation_p.R148Q	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	660					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGAATACAGCGAACTGCATAC	0.418																																																	0													105	108	107					3																	122289345		2203	4300	6503	SO:0001583	missense	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1979G>A	3.37:g.122289345G>A	ENSP00000296161:p.Arg660Gln		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R660Q	ENST00000296161.4	37	c.1979	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718311	0.89205	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.63096	-0.02;-0.02	5.07	5.07	0.68467	.	0.000000	0.42682	D	0.000662	D	0.84884	0.5571	H	0.94925	3.6	0.46376	D	0.99901	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88764	0.3259	10	0.66056	D	0.02	-44.0125	17.1797	0.86851	0.0:0.0:1.0:0.0	.	148;660	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	Q	660;148	ENSP00000296161:R660Q;ENSP00000373157:R148Q	ENSP00000296161:R660Q	R	+	2	0	DTX3L	123772035	1.000000	0.71417	0.826000	0.32828	0.523000	0.34469	9.523000	0.98034	2.637000	0.89404	0.561000	0.74099	CGA	DTX3L	-	NULL	ENSG00000163840		0.418	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	-	0	35	0	G	NM_138287		122289345	1	tier1	-	no_errors	ENST00000296161	ensembl	human	known	74_37	missense	35.38	42	23	SNP	0.745	A	A	122289345	G	A	122289345	3	1	39	1	0	0	0	0	1	0	0	0	4810	1058	37	1	1993	1	DTX3L	3	122289345	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	948059	122289345	75733085	61	9375											
KALRN	8997	genome.wustl.edu	37	chr3	124390534	124390534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgcccattgagtatcaacGgaaagaaaggagcacagctg	15	6	11	9	2	1	2	1	1	0	1	2	4	1	4	1	2	3	3	1	2	4	2	rs374234847		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:124390534G>A	ENST00000291478.5	+	15	1800	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q	KALRN_ENST00000393496.1_Missense_Mutation_p.R584Q|KALRN_ENST00000360013.3_Missense_Mutation_p.R2243Q|KALRN_ENST00000459915.1_Missense_Mutation_p.R335Q|KALRN_ENST00000428018.2_Missense_Mutation_p.R514Q	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2242					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAGTATCAACGGAAAGAAAGG	0.552																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	94	102	99		6728,1637	4.3	1	3		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KALRN	NM_001024660.3,NM_007064.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	2243/2987,546/1290	124390534	1,13005	2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1637G>A	3.37:g.124390534G>A	ENSP00000291478:p.Arg546Gln		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R2243Q	ENST00000291478.5	37	c.6728	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.87|15.87	2.961478|2.961478	0.53400|0.53400	0.0|0.0	1.16E-4|1.16E-4	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	.|T;T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94;0.94	4.35|4.35	4.35|4.35	0.52113|0.52113	.|Pleckstrin homology-type (1);	.|0.094329	.|0.43110	.|D	.|0.000618	T|T	0.37839|0.37839	0.1018|0.1018	M|M	0.67397|0.67397	2.05|2.05	0.30381|0.30381	N|N	0.7819|0.7819	.|B;P;D;P	.|0.53619	.|0.383;0.864;0.961;0.605	.|B;B;B;B	.|0.32090	.|0.04;0.049;0.14;0.007	T|T	0.57165|0.57165	-0.7858|-0.7858	5|10	.|0.62326	.|D	.|0.03	.|.	16.8893|16.8893	0.86083|0.86083	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|335;546;584;2242	.|E7EUZ8;C9JQ37;O60229-5;O60229	.|.;.;.;KALRN_HUMAN	R|Q	2212|2243;584;546;514;335	.|ENSP00000353109:R2243Q;ENSP00000377134:R584Q;ENSP00000291478:R546Q;ENSP00000402419:R514Q;ENSP00000420318:R335Q	.|ENSP00000291478:R546Q	G|R	+|+	1|2	0|0	KALRN|KALRN	125873224|125873224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	4.823000|4.823000	0.62694|0.62694	1.968000|1.968000	0.57251|0.57251	0.557000|0.557000	0.71058|0.71058	GGA|CGG	KALRN	-	NULL	ENSG00000160145		0.552	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	-	0	77	0	G	NM_003947		124390534	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	38.57	43	27	SNP	1.000	A	A	124390534	G	A	124390534	3	1	39	1	0	0	0	0	1	0	0	0	8002	1116	39	1	7074	1	KALRN	3	124390534	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2101189	124390534	73631896	62	9376											
MUC13	56667	genome.wustl.edu	37	chr3	124627023	124627023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcggggcatgctgctgtGtcttgaatagggattttgca	7	12	16	6	1	1	1	0	1	1	0	1	2	1	2	0	4	3	4	0	4	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:124627023G>A	ENST00000311075.3	-	11	1545	c.1507C>T	c.(1507-1509)Cac>Tac	p.H503Y		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	504			R -> S (in dbSNP:rs1127233). {ECO:0000269|PubMed:12975309}.		cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ATGCTGCTGTGTCTTGAATAG	0.537																																																	0													121	103	109					3																	124627023		2203	4300	6503	SO:0001583	missense	0			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"Mucins"	7511	protein-coding gene	gene with protein product		612181	"down-regulated in colon cancer 1", "mucin 13, epithelial transmembrane"	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.1507C>T	3.37:g.124627023G>A	ENSP00000312235:p.His503Tyr		Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.H503Y	ENST00000311075.3	37	c.1507		3	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386170	0.25031	.	.	ENSG00000173702	ENST00000311075	T	0.16324	2.35	4.06	3.18	0.36537	.	1.087100	0.07216	N	0.860016	T	0.16300	0.0392	L	0.42245	1.32	0.09310	N	1	B	0.31100	0.308	B	0.29353	0.101	T	0.23368	-1.0190	10	0.49607	T	0.09	0.3257	7.8915	0.29680	0.1114:0.0:0.8886:0.0	.	503	Q9H3R2	MUC13_HUMAN	Y	503	ENSP00000312235:H503Y	ENSP00000312235:H503Y	H	-	1	0	MUC13	126109713	0.002000	0.14202	0.013000	0.15412	0.001000	0.01503	0.618000	0.24373	1.305000	0.44909	0.563000	0.77884	CAC	MUC13	-	NULL	ENSG00000173702		0.537	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1	-	0	42	0	G	NM_033049		124627023	-1	tier1	-	no_errors	ENST00000311075	ensembl	human	known	74_37	missense	27.45	37	14	SNP	0.014	A	A	124627023	G	A	124627023	3	1	39	1	0	0	0	0	1	0	0	0	10009	1377	48	3	32	3	MUC13	3	124627023	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	236489	124627023	73395407	63	9377											
RHO	6010	genome.wustl.edu	37	chr3	129251606	129251606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtcatctatatcatgatGaacaagcaggtgcctactgc	11	11	8	11	0	3	2	2	2	1	0	3	2	3	2	2	1	5	1	2	1	5	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:129251606G>A	ENST00000296271.3	+	4	1021	c.927G>A	c.(925-927)atG>atA	p.M309I		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	309					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATATCATGATGAACAAGCAGG	0.612																																					Esophageal Squamous(118;214 1623 30842 43234 46940)												0													82	81	81					3																	129251606		2203	4300	6503	SO:0001583	missense	0			AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"GPCR / Class A : Opsin receptors"	10012	protein-coding gene	gene with protein product	"opsin 2, rod pigment"	180380	"retinitis pigmentosa 4, autosomal dominant"	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.927G>A	3.37:g.129251606G>A	ENSP00000296271:p.Met309Ile		Q16414|Q2M249	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin	p.M309I	ENST00000296271.3	37	c.927	CCDS3063.1	3	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168428	0.57584	.	.	ENSG00000163914	ENST00000296271	T	0.37752	1.18	5.67	5.67	0.87782	.	0.121462	0.85682	D	0.000000	T	0.49064	0.1535	M	0.85710	2.77	0.53688	D	0.999974	B	0.09022	0.002	B	0.06405	0.002	T	0.51568	-0.8689	10	0.87932	D	0	.	19.7824	0.96422	0.0:0.0:1.0:0.0	.	309	P08100	OPSD_HUMAN	I	309	ENSP00000296271:M309I	ENSP00000296271:M309I	M	+	3	0	RHO	130734296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.709000	0.54853	2.677000	0.91161	0.561000	0.74099	ATG	RHO	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn	ENSG00000163914		0.612	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	HGNC	protein_coding	OTTHUMT00000356101.1	-	0	50	0	G	NM_000539		129251606	1	tier1	-	no_errors	ENST00000296271	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	A	A	129251606	G	A	129251606	3	1	39	1	0	0	0	0	1	0	0	0	13375	1290	45	3	941	3	RHO	3	129251606	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4624583	129251606	68770824	64	9378											
GPR149	344758	genome.wustl.edu	37	chr3	154139187	154139187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatagaatatggaattttCatcatcatcatagtaatctt	14	16	6	5	0	5	2	4	1	1	1	5	3	5	3	0	1	0	1	0	1	6	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:154139187C>T	ENST00000389740.2	-	3	1363	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	422					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATGGAATTTTCATCATCATCA	0.323																																																	0													88	83	84					3																	154139187		1835	4094	5929	SO:0001583	missense	0			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1264G>A	3.37:g.154139187C>T	ENSP00000374390:p.Glu422Lys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E422K	ENST00000389740.2	37	c.1264	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361614	0.41801	.	.	ENSG00000174948	ENST00000389740	.	.	.	4.56	2.69	0.31865	.	0.516231	0.21113	N	0.079941	T	0.40743	0.1129	L	0.60455	1.87	0.27603	N	0.948913	B	0.09022	0.002	B	0.08055	0.003	T	0.41324	-0.9515	9	0.87932	D	0	-6.11	6.7491	0.23477	0.0:0.6851:0.1479:0.167	.	422	Q86SP6	GP149_HUMAN	K	422	.	ENSP00000374390:E422K	E	-	1	0	GPR149	155621881	1.000000	0.71417	0.938000	0.37757	0.790000	0.44656	4.820000	0.62671	0.448000	0.26722	0.454000	0.30748	GAA	GPR149	-	NULL	ENSG00000174948		0.323	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	-	0	12	0	C	XM_293580		154139187	-1	tier1	-	no_errors	ENST00000389740	ensembl	human	known	74_37	missense	50.00	9	9	SNP	0.959	T	T	154139187	C	T	154139187	3	4	39	1	0	0	0	0	1	0	0	0	6680	835	29	3	939	3	GPR149	3	154139187	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	24887581	154139187	43883243	65	9379											
IFT80	57560	genome.wustl.edu	37	chr3	160037578	160037578	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttttcgttaatgttacTtgaaaatttttccactccca	9	19	3	10	1	1	1	0	1	1	0	4	1	3	1	2	0	1	2	2	0	4	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:160037578T>C	ENST00000326448.7	-	9	1359	c.927A>G	c.(925-927)caA>caG	p.Q309Q	IFT80_ENST00000483465.1_Silent_p.Q172Q|IFT80_ENST00000496589.1_Silent_p.Q172Q|RP11-432B6.3_ENST00000483754.1_Silent_p.Q480Q	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	309					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTAATGTTACTTGAAAATTTT	0.383																																																	0													126	124	125					3																	160037578		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"Intraflagellar transport homologs", "WD repeat domain containing"	29262	protein-coding gene	gene with protein product		611177	"WD repeat domain 56", "intraflagellar transport 80 homolog (Chlamydomonas)"	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.927A>G	3.37:g.160037578T>C			B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q480	ENST00000326448.7	37	c.1440	CCDS3188.1	3																																																																																			RP11-432B6.3	-	superfamily_WD40_repeat_dom	ENSG00000248710		0.383	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	Clone_based_vega_gene	protein_coding	OTTHUMT00000352651.2	-	0	28	0	T	NM_020800		160037578	-1	tier1	-	no_errors	ENST00000483754	ensembl	human	known	74_37	silent	33.33	38	19	SNP	1.000	C	C	160037578	T	C	160037578	2	2	39	1	0	0	0	0	0	0	0	1	7591	1606	56	4		4	IFT80	3	160037578	Silent	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	5898391	160037578	37984852	66	9380											
SMC4	10051	genome.wustl.edu	37	chr3	160138588	160138588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcctgttgtcatgcaCtggactacattgttgttgat	8	17	8	8	0	2	1	2	1	0	0	3	2	3	2	1	1	2	4	1	1	2	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:160138588C>T	ENST00000357388.3	+	13	2369	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SMC4_ENST00000360111.2_Silent_p.L640L|SMC4_ENST00000462787.1_Silent_p.L640L|SMC4_ENST00000469762.1_Silent_p.L615L|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Silent_p.L640L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	640	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTGTCATGCACTGGACTACAT	0.368																																																	0													171	156	161					3																	160138588		2203	4300	6503	SO:0001819	synonymous_variant	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1918C>T	3.37:g.160138588C>T			A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.L640	ENST00000357388.3	37	c.1918	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000113810		0.368	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	-	0	52	0	C			160138588	1	tier1	-	no_errors	ENST00000344722	ensembl	human	known	74_37	silent	34.58	70	37	SNP	0.434	T	T	160138588	C	T	160138588	2	4	39	1	0	0	0	0	0	0	0	1	14830	564	20	3		3	SMC4	3	160138588	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	101010	160138588	37883842	67	9381											
SI	6476	genome.wustl.edu	37	chr3	164735587	164735587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaacttctggagttgggcCcaaaaacatataaaaatcca	16	9	7	9	0	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	7	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:164735587C>A	ENST00000264382.3	-	30	3657	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1199	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGAGTTGGGCCCAAAAACATA	0.328										HNSCC(35;0.089)																																							0													58	57	57					3																	164735587		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3595G>T	3.37:g.164735587C>A	ENSP00000264382:p.Gly1199Cys		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G1199C	ENST00000264382.3	37	c.3595	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356323	0.82243	.	.	ENSG00000090402	ENST00000264382	D	0.98550	-4.99	4.91	4.91	0.64330	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.98276	4.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98126	1.0428	10	0.87932	D	0	.	18.2831	0.90104	0.0:1.0:0.0:0.0	.	1199	P14410	SUIS_HUMAN	C	1199	ENSP00000264382:G1199C	ENSP00000264382:G1199C	G	-	1	0	SI	166218281	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.465000	0.73538	2.540000	0.85666	0.491000	0.48974	GGC	SI	-	pfam_Glyco_hydro_31,superfamily_Gal_mutarotase_SF_dom	ENSG00000090402		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	45	0	C	NM_001041		164735587	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	37.50	35	21	SNP	1.000	A	A	164735587	C	A	164735587	3	1	39	1	0	0	0	0	1	0	0	0	14342	623	22	3	1964	3	SI	3	164735587	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	4596999	164735587	33286843	68	9382											
NAALADL2	254827	genome.wustl.edu	37	chr3	175165132	175165132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagaaccaaaaatgaagcGtgtagctctctagagcttcc	13	9	9	10	1	1	3	0	1	1	2	3	3	2	3	2	0	4	4	2	0	7	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:175165132G>A	ENST00000454872.1	+	6	1334	c.1206G>A	c.(1204-1206)gcG>gcA	p.A402A	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	402						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAAATGAAGCGTGTAGCTCTC	0.383																																																	0													56	52	53					3																	175165132		1875	4105	5980	SO:0001819	synonymous_variant	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1206G>A	3.37:g.175165132G>A			Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	superfamily_TFR-like_dimer_dom	p.A402	ENST00000454872.1	37	c.1206	CCDS46960.1	3																																																																																			NAALADL2	-	NULL	ENSG00000177694		0.383	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	-	0	31	0	G	NM_207015		175165132	1	tier1	-	no_errors	ENST00000454872	ensembl	human	known	74_37	silent	35.71	27	15	SNP	0.385	A	A	175165132	G	A	175165132	2	1	39	1	0	0	0	0	0	0	0	1	10168	1132	40	1		1	NAALADL2	3	175165132	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10429545	175165132	22857298	69	9383											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	20	0	A			178952085	1	tier1	rs121913279	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	37.14	21	13	SNP	1.000	T	T	178952085	A	T	178952085	3	4	39	1	0	0	0	0	1	0	0	0	11952	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	3786953	178952085	19070345	70	9384											
N4BP2	55728	genome.wustl.edu	37	chr4	40144359	40144359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggactttgagtacccaGactatgatgactacagagca	13	9	9	10	0	0	5	0	3	0	2	1	6	1	6	2	1	3	2	2	1	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:40144359G>A	ENST00000261435.6	+	15	5268	c.4852G>A	c.(4852-4854)Gac>Aac	p.D1618N		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1618					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGAGTACCCAGACTATGATGA	0.398																																																	0													103	102	102					4																	40144359		2203	4300	6503	SO:0001583	missense	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4852G>A	4.37:g.40144359G>A	ENSP00000261435:p.Asp1618Asn		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.D1618N	ENST00000261435.6	37	c.4852	CCDS3457.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.48|10.48	1.362047|1.362047	0.24684|0.24684	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.19105|.	2.17|.	5.24|5.24	-0.718|-0.718	0.11205|0.11205	Domain of unknown function DUF1771 (1);|.	0.529813|.	0.19003|.	N|.	0.125287|.	T|T	0.31104|0.31104	0.0786|0.0786	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B;B|.	0.24132|.	0.08;0.098|.	B;B|.	0.28011|.	0.051;0.085|.	T|T	0.30387|0.30387	-0.9980|-0.9980	10|5	0.56958|.	D|.	0.05|.	0.0032|0.0032	7.2745|7.2745	0.26275|0.26275	0.3169:0.218:0.4651:0.0|0.3169:0.218:0.4651:0.0	.|.	1601;1618|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	N|K	1618;1538|1247	ENSP00000261435:D1618N|.	ENSP00000261435:D1618N|.	D|R	+|+	1|2	0|0	N4BP2|N4BP2	39820754|39820754	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.408000|0.408000	0.30992|0.30992	1.452000|1.452000	0.35156|0.35156	-0.097000|-0.097000	0.12307|0.12307	0.462000|0.462000	0.41574|0.41574	GAC|AGA	N4BP2	-	pfam_DUF1771	ENSG00000078177		0.398	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	-	0	52	0	G	NM_018177		40144359	1	tier1	-	no_errors	ENST00000261435	ensembl	human	known	74_37	missense	39.47	46	30	SNP	0.000	A	A	40144359	G	A	40144359	3	1	39	1	0	0	0	0	1	0	0	0	10148	942	33	3	4902	3	N4BP2	4	40144359	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		40144359	151009917	71	9385											
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984704	41984704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatcaagctgtgggatCtgagggccactaaatgtgta	13	9	13	6	0	2	2	1	1	1	1	2	4	2	3	1	2	1	2	1	2	5	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:41984704C>A	ENST00000333141.5	+	1	992	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	299										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGTGGGATCTGAGGGCCAC	0.527																																																	0													133	108	117					4																	41984704		2203	4300	6503	SO:0001583	missense	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.895C>A	4.37:g.41984704C>A	ENSP00000327796:p.Leu299Met		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L299M	ENST00000333141.5	37	c.895	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452114	0.26074	.	.	ENSG00000182308	ENST00000333141	T	0.28255	1.62	0.97	0.97	0.19692	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.075804	0.53938	D	0.000046	T	0.27900	0.0687	M	0.74258	2.255	0.32779	N	0.502731	D	0.54964	0.969	B	0.41332	0.354	T	0.46693	-0.9173	10	0.72032	D	0.01	.	4.8876	0.13710	0.0:0.6049:0.395:0.0	.	299	Q3SXM0	DC4L1_HUMAN	M	299	ENSP00000327796:L299M	ENSP00000327796:L299M	L	+	1	2	DCAF4L1	41679461	0.971000	0.33674	0.869000	0.34112	0.312000	0.27988	0.326000	0.19646	0.821000	0.34540	0.313000	0.20887	CTG	DCAF4L1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000182308		0.527	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	-	0	77	0	C	NM_001029955		41984704	1	tier1	-	no_errors	ENST00000333141	ensembl	human	known	74_37	missense	33.33	34	17	SNP	0.997	A	A	41984704	C	A	41984704	3	1	39	1	0	0	0	0	1	0	0	0	4280	912	32	3	897	3	DCAF4L1	4	41984704	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1840345	41984704	149169572	72	9386											
BEND4	389206	genome.wustl.edu	37	chr4	42153694	42153694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcgctgagctccaggctgGcgctgtcgctacccgtgccg	3	8	14	16	5	0	1	0	1	0	0	2	1	1	1	3	2	4	5	3	2	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:42153694G>T	ENST00000502486.1	-	2	1046	c.467C>A	c.(466-468)gCc>gAc	p.A156D	BEND4_ENST00000504360.1_Missense_Mutation_p.A152D	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	156										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CTCCAGGCTGGCGCTGTCGCT	0.736																																																	0													1	1	1					4																	42153694		511	1178	1689	SO:0001583	missense	0			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"BEN domain containing"	23815	protein-coding gene	gene with protein product			"coiled-coil domain containing 4"	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.467C>A	4.37:g.42153694G>T	ENSP00000421169:p.Ala156Asp		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	pfam_BEN_domain	p.A156D	ENST00000502486.1	37	c.467	CCDS47048.1	4	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469935	0.43839	.	.	ENSG00000188848	ENST00000502486;ENST00000504360	.	.	.	3.32	1.5	0.22942	.	0.789612	0.11024	N	0.608015	T	0.31513	0.0799	N	0.19112	0.55	0.33530	D	0.593504	B;B;B	0.17465	0.006;0.004;0.022	B;B;B	0.25291	0.059;0.02;0.059	T	0.33445	-0.9868	9	0.72032	D	0.01	-12.0706	5.3573	0.16067	0.1505:0.4939:0.3556:0.0	.	78;156;156	Q6ZU67-3;Q6ZU67;Q6ZU67-2	.;BEND4_HUMAN;.	D	156;152	.	ENSP00000421169:A156D	A	-	2	0	BEND4	41848451	0.998000	0.40836	0.997000	0.53966	0.942000	0.58702	0.284000	0.18864	0.094000	0.17404	0.491000	0.48974	GCC	BEND4	-	NULL	ENSG00000188848		0.736	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND4	HGNC	protein_coding	OTTHUMT00000360975.2	-	0	15	0	G	NM_207406		42153694	-1	tier1	-	no_errors	ENST00000502486	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	T	T	42153694	G	T	42153694	3	4	39	1	0	0	0	0	1	0	0	0	1401	1203	42	3	1157	3	BEND4	4	42153694	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	168990	42153694	149000582	73	9387											
LNX1	84708	genome.wustl.edu	37	chr4	54362344	54362344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggctcatccaccttgCgcaccagttttattccaagc	8	10	6	17	1	1	0	1	0	0	0	3	0	3	0	6	1	2	3	6	1	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:54362344C>T	ENST00000263925.7	-	6	1510	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	LNX1_ENST00000306888.2_Missense_Mutation_p.R303H|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000502373.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	399	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATCCACCTTGCGCACCAGTTT	0.522																																																	0													144	129	134					4																	54362344		2203	4300	6503	SO:0001583	missense	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1196G>A	4.37:g.54362344C>T	ENSP00000263925:p.Arg399His		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.R399H	ENST00000263925.7	37	c.1196	CCDS47057.1	4	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219380	0.58560	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.27890	1.64;1.64	5.29	4.44	0.53790	PDZ/DHR/GLGF (4);	0.049049	0.85682	D	0.000000	T	0.38612	0.1047	M	0.73753	2.245	0.80722	D	1	P;D	0.55605	0.691;0.972	B;P	0.44394	0.284;0.448	T	0.43343	-0.9397	10	0.49607	T	0.09	.	14.3286	0.66537	0.0:0.9283:0.0:0.0717	.	399;303	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	H	303;237;399	ENSP00000302879:R303H;ENSP00000263925:R399H	ENSP00000263925:R399H	R	-	2	0	LNX1	54057101	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	5.593000	0.67550	1.443000	0.47586	0.561000	0.74099	CGC	LNX1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000072201		0.522	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	-	0	50	0	C			54362344	-1	tier1	-	no_errors	ENST00000263925	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	T	T	54362344	C	T	54362344	3	4	39	1	0	0	0	0	1	0	0	0	8895	768	27	1	1014	1	LNX1	4	54362344	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	12208650	54362344	136791932	74	9388											
NDST3	9348	genome.wustl.edu	37	chr4	118975223	118975223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttcagaagttgactgtgGcgacctccaacacctaccat	10	9	9	13	1	1	2	1	1	0	1	2	3	2	2	4	2	2	2	4	2	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:118975223G>A	ENST00000296499.5	+	2	561	c.158G>A	c.(157-159)gGc>gAc	p.G53D	NDST3_ENST00000433996.2_Missense_Mutation_p.G53D	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	53	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTTGACTGTGGCGACCTCCAA	0.433																																																	0													116	114	114					4																	118975223		2203	4300	6503	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.158G>A	4.37:g.118975223G>A	ENSP00000296499:p.Gly53Asp		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.G53D	ENST00000296499.5	37	c.158	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300733	0.40694	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.40756	1.35;1.02	5.67	4.82	0.62117	.	0.221006	0.46442	D	0.000293	T	0.48624	0.1510	M	0.65498	2.005	0.40420	D	0.979839	B;P;D	0.59357	0.005;0.635;0.985	B;B;P	0.48030	0.007;0.41;0.564	T	0.49615	-0.8921	10	0.21014	T	0.42	.	16.6721	0.85270	0.0:0.1299:0.8701:0.0	.	53;53;53	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	D	53	ENSP00000296499:G53D;ENSP00000396625:G53D	ENSP00000296499:G53D	G	+	2	0	NDST3	119194671	0.969000	0.33509	0.981000	0.43875	0.452000	0.32318	1.707000	0.37888	1.382000	0.46385	0.650000	0.86243	GGC	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.433	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4	-	0	34	0	G	NM_004784		118975223	1	tier1	-	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.976	A	A	118975223	G	A	118975223	3	1	39	1	0	0	0	0	1	0	0	0	10296	1203	42	3	160	3	NDST3	4	118975223	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	64612879	118975223	72179053	75	9389											
NDST3	9348	genome.wustl.edu	37	chr4	118975378	118975378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagaatcaagtagattcCagtatcacattgaaattgcc	14	13	6	8	0	3	3	2	1	1	2	4	3	4	3	2	0	1	2	2	0	6	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:118975378C>A	ENST00000296499.5	+	2	716	c.313C>A	c.(313-315)Cag>Aag	p.Q105K	NDST3_ENST00000433996.2_Missense_Mutation_p.Q105K	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	105	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AAGTAGATTCCAGTATCACAT	0.378																																																	0													51	51	51					4																	118975378		2203	4299	6502	SO:0001583	missense	0			AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"Sulfotransferases, membrane-bound"	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.313C>A	4.37:g.118975378C>A	ENSP00000296499:p.Gln105Lys		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Q105K	ENST00000296499.5	37	c.313	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	C	5.416	0.261978	0.10239	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.39229	1.41;1.09	5.53	5.53	0.82687	.	0.329212	0.34484	N	0.003929	T	0.23451	0.0567	N	0.16098	0.37	0.29488	N	0.855823	B;B;B	0.13594	0.0;0.0;0.008	B;B;B	0.08055	0.003;0.001;0.003	T	0.08889	-1.0700	10	0.02654	T	1	.	14.3078	0.66395	0.1485:0.8515:0.0:0.0	.	105;105;105	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	K	105	ENSP00000296499:Q105K;ENSP00000396625:Q105K	ENSP00000296499:Q105K	Q	+	1	0	NDST3	119194826	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.883000	0.56168	2.577000	0.86979	0.650000	0.86243	CAG	NDST3	-	pfam_Heparan_SO4_deacetylase	ENSG00000164100		0.378	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	HGNC	protein_coding	OTTHUMT00000256517.4		0	23	0	C	NM_004784		118975378	1			no_errors	ENST00000296499	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A	A	118975378	C	A	118975378	3	1	39	1	0	0	0	0	1	0	0	0	10296	595	21	3	315	3	NDST3	4	118975378	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	155	118975378	72178898	76	9390											
ELF2	1998	genome.wustl.edu	37	chr4	139981500	139981500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgctgttgctgacaCagatgcagtggtagtaggag	9	10	16	6	0	0	2	0	1	0	1	0	4	0	4	0	3	4	7	0	3	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:139981500C>T	ENST00000394235.2	-	9	1601	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000379549.2_Missense_Mutation_p.V290M|ELF2_ENST00000265495.4_Missense_Mutation_p.V367M|ELF2_ENST00000510408.1_Missense_Mutation_p.V307M|ELF2_ENST00000379550.1_Missense_Mutation_p.V379M|ELF2_ENST00000358635.3_Missense_Mutation_p.V319M	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTTGCTGACACAGATGCAGTG	0.428																																																	0													65	61	62					4																	139981500		2203	4300	6503	SO:0001583	missense	0			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1099G>A	4.37:g.139981500C>T	ENSP00000377782:p.Val367Met			Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.V379M	ENST00000394235.2	37	c.1135	CCDS3744.1	4	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137299	0.37728	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408	T;T;T;T;T;T	0.13657	2.61;2.75;2.77;2.75;2.79;2.57	5.96	5.1	0.69264	.	0.245105	0.41938	D	0.000797	T	0.13713	0.0332	L	0.27053	0.805	0.21967	N	0.999441	P;B;P;B;P	0.40875	0.472;0.429;0.472;0.38;0.731	B;B;B;B;B	0.43478	0.106;0.421;0.173;0.265;0.421	T	0.10823	-1.0613	9	.	.	.	.	15.4201	0.75003	0.0:0.8617:0.1383:0.0	.	182;367;290;307;319	B7Z8R4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	M	319;367;379;367;290;182;307	ENSP00000351458:V319M;ENSP00000377782:V367M;ENSP00000368868:V379M;ENSP00000265495:V367M;ENSP00000368867:V290M;ENSP00000426997:V307M	.	V	-	1	0	ELF2	140200950	1.000000	0.71417	0.017000	0.16124	0.011000	0.07611	4.976000	0.63785	1.478000	0.48253	0.650000	0.86243	GTG	ELF2	-	NULL	ENSG00000109381		0.428	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2	-	0	22	0	C	NM_006874		139981500	-1	tier1	-	no_errors	ENST00000379550	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.317	T	T	139981500	C	T	139981500	3	4	39	1	0	0	0	0	1	0	0	0	5070	478	17	3	654	3	ELF2	4	139981500	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	21006122	139981500	51172776	77	9391											
SORBS2	8470	genome.wustl.edu	37	chr4	186583259	186583259	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgagtaaattacttaccGagggatgtgccgtgctgcat	9	11	13	8	3	0	1	0	1	0	0	0	3	0	2	2	2	5	3	2	2	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:186583259G>A	ENST00000284776.7	-	5	602	c.93C>T	c.(91-93)ctC>ctT	p.L31L	SORBS2_ENST00000319471.9_Splice_Site_p.L117L|SORBS2_ENST00000449407.2_Splice_Site_p.L117L|SORBS2_ENST00000393528.3_Splice_Site_p.L77L|SORBS2_ENST00000355634.5_Splice_Site_p.L131L|SORBS2_ENST00000437304.2_Splice_Site_p.L210L|SORBS2_ENST00000431808.1_Splice_Site_p.L31L|SORBS2_ENST00000448662.2_Splice_Site_p.L100L	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	31					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.L100L(1)|p.L31L(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTACTTACCGAGGGATGTGC	0.527																																					Esophageal Squamous(153;41 2433 9491 36028)												2	Substitution - coding silent(2)	large_intestine(2)											115	94	101					4																	186583259		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.94+1C>T	4.37:g.186583259G>A			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.L31	ENST00000284776.7	37	c.93	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.527	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0	77	0	G	NM_003603	Silent	186583259	-1			no_errors	ENST00000284776	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.120	A	A	186583259	G	A	186583259	5	1	39	1	0	0	0	0	0	0	1	0	14973	1072	37	1	3617	1	SORBS2	4	186583259	Splice_Site	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	46601759	186583259	4571017	78	9392											
ZFP42	132625	genome.wustl.edu	37	chr4	188924336	188924336	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttggaatacatgaaaaaAggggtaaagaaagagcttcc	17	9	10	5	0	1	3	0	1	1	2	2	4	2	4	1	3	2	2	1	3	8	4	rs561833686		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr4:188924336A>G	ENST00000326866.4	+	4	783	c.375A>G	c.(373-375)aaA>aaG	p.K125K	ZFP42_ENST00000509524.1_Silent_p.K125K	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	125					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V127fs*1(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACATGAAAAAAGGGGTAAAGA	0.413													A|||	1	0.000199681	0	0.0014	5008	,	,		19490	0		0	False		,,,				2504	0																1	Deletion - Frameshift(1)	skin(1)											87	95	93					4																	188924336		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.375A>G	4.37:g.188924336A>G			D3DP65|Q8WXE2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K125	ENST00000326866.4	37	c.375	CCDS3849.1	4																																																																																			ZFP42	-	NULL	ENSG00000179059		0.413	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1		0	30	0	A	NM_174900		188924336	1			no_errors	ENST00000326866	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.000	G	G	188924336	A	G	188924336	2	3	39	1	0	0	0	0	0	0	0	1	17698	69	3	4		4	ZFP42	4	188924336	Silent	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	2341077	188924336	2229940	79	9393											
TRIO	7204	genome.wustl.edu	37	chr5	14358418	14358418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgcaggtgactgtcaaCgtgatcaaggaaggggagga	12	6	15	8	1	2	2	2	2	0	0	2	5	2	5	1	5	2	1	1	5	3	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:14358418C>T	ENST00000344204.4	+	12	2202	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	TRIO_ENST00000537187.1_Silent_p.N726N|TRIO_ENST00000509967.2_Silent_p.N677N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	726					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGACTGTCAACGTGATCAAGG	0.612																																																	0													121	97	105					5																	14358418		2203	4300	6503	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2178C>T	5.37:g.14358418C>T			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.N726	ENST00000344204.4	37	c.2178	CCDS3883.1	5																																																																																			TRIO	-	smart_Spectrin/alpha-actinin	ENSG00000038382		0.612	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0	60	0	C	NM_007118		14358418	1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	T	T	14358418	C	T	14358418	2	4	39	1	0	0	0	0	0	0	0	1	16600	535	19	1		1	TRIO	5	14358418	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		14358418	166556842	80	9394											
UGT3A1	133688	genome.wustl.edu	37	chr5	35954387	35954387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagccacatagtgcccaGagtgagccccagcagaaaca	16	3	9	13	0	0	3	0	1	0	2	0	3	0	3	4	0	5	1	4	0	3	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:35954387G>T	ENST00000274278.3	-	7	1846	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	UGT3A1_ENST00000513233.1_5'Flank	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	497						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATAGTGCCCAGAGTGAGCCCC	0.587																																																	0													101	76	84					5																	35954387		2203	4300	6503	SO:0001583	missense	0				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1489C>A	5.37:g.35954387G>T	ENSP00000274278:p.Leu497Met		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L497M	ENST00000274278.3	37	c.1489	CCDS3913.1	5	.	.	.	.	.	.	.	.	.	.	.	6.652	0.488781	0.12641	.	.	ENSG00000145626	ENST00000274278	T	0.62364	0.03	3.88	0.94	0.19513	.	401.830000	0.00166	U	0.000011	T	0.80964	0.4725	M	0.88570	2.965	0.09310	N	0.999999	D	0.69078	0.997	D	0.73708	0.981	T	0.50171	-0.8859	10	0.41790	T	0.15	.	5.741	0.18094	0.1789:0.3037:0.5174:0.0	.	497	Q6NUS8	UD3A1_HUMAN	M	497	ENSP00000274278:L497M	ENSP00000274278:L497M	L	-	1	2	UGT3A1	35990144	0.837000	0.29446	0.104000	0.21259	0.020000	0.10135	0.842000	0.27627	0.040000	0.15660	-0.474000	0.04947	CTG	UGT3A1	-	pfam_UDP_glucos_trans	ENSG00000145626		0.587	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	HGNC	protein_coding	OTTHUMT00000253770.2		0	83	0	G	NM_152404		35954387	-1			no_errors	ENST00000274278	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.041	T	T	35954387	G	T	35954387	3	4	39	1	0	0	0	0	1	0	0	0	17012	933	33	3	86	3	UGT3A1	5	35954387	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	21595969	35954387	144960873	81	9395											
ITGA1	3672	genome.wustl.edu	37	chr5	52206093	52206093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacaaaaatgagccatgCggggctcgttttggaactgc	13	8	12	8	2	0	1	0	1	0	0	1	3	0	2	1	3	5	2	1	3	5	2	rs565973897		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:52206093C>T	ENST00000282588.6	+	14	2159	c.1701C>T	c.(1699-1701)tgC>tgT	p.C567C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	567					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ATGAGCCATGCGGGGCTCGTT	0.453																																																	0													69	73	72					5																	52206093		2203	4300	6503	SO:0001819	synonymous_variant	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1701C>T	5.37:g.52206093C>T			B2RNU0	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.C567	ENST00000282588.6	37	c.1701	CCDS3955.1	5																																																																																			ITGA1	-	smart_Int_alpha_beta-p	ENSG00000213949		0.453	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3		0	28	0	C	NM_181501		52206093	1			no_errors	ENST00000282588	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.084	T	T	52206093	C	T	52206093	2	4	39	1	0	0	0	0	0	0	0	1	7899	776	27	1		1	ITGA1	5	52206093	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	16251706	52206093	128709167	82	9396											
SKIV2L2	23517	genome.wustl.edu	37	chr5	54718789	54718789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccattggaaacactgagCtggaaaataaatttgcagaa	18	8	9	6	0	0	2	0	1	0	1	0	4	0	4	1	2	4	2	1	2	7	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:54718789C>G	ENST00000230640.5	+	26	3309	c.3055C>G	c.(3055-3057)Ctg>Gtg	p.L1019V	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L918V	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	1019					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AAACACTGAGCTGGAAAATAA	0.413																																					Melanoma(2;92 134 23744 29976 33782)												0													64	62	63					5																	54718789		2203	4300	6503	SO:0001583	missense	0			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 118"		"KIAA0052"	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.3055C>G	5.37:g.54718789C>G	ENSP00000230640:p.Leu1019Val		Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1019V	ENST00000230640.5	37	c.3055	CCDS3967.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.390039|4.390039	0.82902|0.82902	.|.	.|.	ENSG00000039123|ENSG00000039123	ENST00000508716|ENST00000230640;ENST00000545714	.|T;T	.|0.33654	.|1.4;1.4	5.59|5.59	5.59|5.59	0.84812|0.84812	.|DSH, C-terminal (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.73110|0.73110	0.3545|0.3545	H|H	0.95437|0.95437	3.67|3.67	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.76575	.|0.958;0.988	T|T	0.81495|0.81495	-0.0907|-0.0907	5|10	.|0.72032	.|D	.|0.01	-12.696|-12.696	19.5874|19.5874	0.95495|0.95495	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|918;1019	.|F5H7E2;P42285	.|.;SK2L2_HUMAN	G|V	54|1019;918	.|ENSP00000230640:L1019V;ENSP00000442583:L918V	.|ENSP00000230640:L1019V	A|L	+|+	2|1	0|2	SKIV2L2|SKIV2L2	54754546|54754546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.009000|3.009000	0.49552|0.49552	2.622000|2.622000	0.88805|0.88805	0.655000|0.655000	0.94253|0.94253	GCT|CTG	SKIV2L2	-	pfam_DSH_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000039123		0.413	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	-	0	24	0	C			54718789	1	tier1	-	no_errors	ENST00000230640	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	G	G	54718789	C	G	54718789	3	3	39	1	0	0	0	0	1	0	0	0	14405	796	28	5	3157	5	SKIV2L2	5	54718789	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2512696	54718789	126196471	83	9397											
BDP1	55814	genome.wustl.edu	37	chr5	70791147	70791147	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagatttgccttcattcGaagttggaattagagcattg	10	15	9	7	1	2	2	2	0	0	2	3	4	2	3	1	1	2	2	1	1	3	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:70791147G>T	ENST00000358731.4	+	12	1974	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	571					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GCCTTCATTCGAAGTTGGAAT	0.328																																																	0													115	109	111					5																	70791147		1838	4088	5926	SO:0001587	stop_gained	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1711G>T	5.37:g.70791147G>T	ENSP00000351575:p.Glu571*		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E571*	ENST00000358731.4	37	c.1711	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.743401	0.97805	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	.	.	.	5.61	4.51	0.55191	.	0.588496	0.17945	N	0.156708	.	.	.	.	.	.	0.31524	N	0.662068	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	7.2368	0.26074	0.1425:0.0:0.8575:0.0	.	.	.	.	X	571;571;151;571	.	ENSP00000351575:E571X	E	+	1	0	BDP1	70826903	0.979000	0.34478	0.028000	0.17463	0.007000	0.05969	2.818000	0.48041	2.793000	0.96121	0.655000	0.94253	GAA	BDP1	-	NULL	ENSG00000145734		0.328	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	-	0	35	0	G	NM_018429		70791147	1	tier1	-	no_errors	ENST00000358731	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	0.045	T	T	70791147	G	T	70791147	4	4	39	1	0	0	0	0	0	1	0	0	1396	1059	37	2	1757	2	BDP1	5	70791147	Nonsense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	16072358	70791147	110124113	84	9398											
GCNT4	51301	genome.wustl.edu	37	chr5	74325367	74325367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtatcaggtgccttacGatcataatggatgcagtaaa	14	10	11	6	1	2	0	2	0	0	0	2	3	2	1	1	3	3	3	1	3	6	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:74325367G>T	ENST00000322348.4	-	1	1357	c.496C>A	c.(496-498)Cgt>Agt	p.R166S		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	166					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.R166C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		GGTGCCTTACGATCATAATGG	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											153	148	149					5																	74325367		2203	4300	6503	SO:0001583	missense	0			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.496C>A	5.37:g.74325367G>T	ENSP00000317027:p.Arg166Ser			Missense_Mutation	SNP	pfam_Glyco_trans_14	p.R166S	ENST00000322348.4	37	c.496	CCDS4026.1	5	.	.	.	.	.	.	.	.	.	.	.	12.01	1.810832	0.32053	.	.	ENSG00000176928	ENST00000322348	T	0.09445	2.98	6.17	5.31	0.75309	.	0.565448	0.20533	N	0.090470	T	0.08133	0.0203	N	0.12569	0.235	0.28184	N	0.928049	B	0.22746	0.074	B	0.28385	0.089	T	0.26815	-1.0092	10	0.21014	T	0.42	-16.1396	15.7563	0.78030	0.065:0.0:0.935:0.0	.	166	Q9P109	GCNT4_HUMAN	S	166	ENSP00000317027:R166S	ENSP00000317027:R166S	R	-	1	0	GCNT4	74361123	1.000000	0.71417	0.895000	0.35142	0.931000	0.56810	4.719000	0.61937	1.626000	0.50381	0.655000	0.94253	CGT	GCNT4	-	pfam_Glyco_trans_14	ENSG00000176928		0.378	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1		0	18	0	G	NM_016591		74325367	-1			no_errors	ENST00000322348	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.997	T	T	74325367	G	T	74325367	3	4	39	1	0	0	0	0	1	0	0	0	6328	1058	37	2	869	2	GCNT4	5	74325367	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	3534220	74325367	106589893	85	9399											
VCAN	1462	genome.wustl.edu	37	chr5	82816578	82816578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaagcctttagagtctaCagaaccttcagcctcttcaa	12	11	5	13	0	4	2	2	0	2	2	5	2	5	2	4	0	4	0	4	0	5	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:82816578C>A	ENST00000265077.3	+	7	3018	c.2453C>A	c.(2452-2454)aCa>aAa	p.T818K	VCAN_ENST00000342785.4_Missense_Mutation_p.T818K|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T770K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	818	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTAGAGTCTACAGAACCTTCA	0.438																																																	0													107	106	107					5																	82816578		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2453C>A	5.37:g.82816578C>A	ENSP00000265077:p.Thr818Lys		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.T818K	ENST00000265077.3	37	c.2453	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546522	0.27652	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.35973	1.28;1.28;1.28	6.06	4.28	0.50868	.	0.417886	0.23173	N	0.051113	T	0.55321	0.1913	M	0.69823	2.125	0.31163	N	0.70406	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.963	T	0.62072	-0.6931	10	0.66056	D	0.02	.	10.1352	0.42701	0.0:0.8481:0.0:0.1519	.	818;818	P13611-3;P13611	.;CSPG2_HUMAN	K	818;818;770	ENSP00000265077:T818K;ENSP00000342768:T818K;ENSP00000425959:T770K	ENSP00000265077:T818K	T	+	2	0	VCAN	82852334	0.969000	0.33509	0.786000	0.31890	0.026000	0.11368	0.992000	0.29667	1.575000	0.49775	-0.157000	0.13467	ACA	VCAN	-	NULL	ENSG00000038427		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	31	0	C	NM_004385		82816578	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.894	A	A	82816578	C	A	82816578	3	1	39	1	0	0	0	0	1	0	0	0	17187	478	17	3	2475	3	VCAN	5	82816578	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8491211	82816578	98098682	86	9400											
GPR98	84059	genome.wustl.edu	37	chr5	89981726	89981726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtggcagaaaatcatgttgGacccattatcaatgtgacta	14	11	9	7	0	2	2	2	1	0	1	2	3	2	3	1	2	0	2	1	2	5	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:89981726G>C	ENST00000405460.2	+	29	6500	c.6404G>C	c.(6403-6405)gGa>gCa	p.G2135A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2135	Calx-beta 15. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATCATGTTGGACCCATTATC	0.408																																																	0													94	85	88					5																	89981726		1925	4135	6060	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6404G>C	5.37:g.89981726G>C	ENSP00000384582:p.Gly2135Ala		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G2135A	ENST00000405460.2	37	c.6404	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986327	0.93044	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.26957	1.7	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35943	-0.9768	10	0.59425	D	0.04	.	20.0503	0.97624	0.0:0.0:1.0:0.0	.	2135	Q8WXG9	GPR98_HUMAN	A	2135	ENSP00000384582:G2135A	ENSP00000296619:G2135A	G	+	2	0	GPR98	90017482	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.624000	0.98398	2.736000	0.93811	0.591000	0.81541	GGA	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	37	0	G	NM_032119		89981726	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	31.03	40	18	SNP	1.000	C	C	89981726	G	C	89981726	3	2	39	1	0	0	0	0	1	0	0	0	6748	1174	41	5	6518	5	GPR98	5	89981726	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	7165148	89981726	90933534	87	9401											
TSLP	85480	genome.wustl.edu	37	chr5	110411672	110411672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcaggcaatgaagaagaGgagaaaaaggaaagtcacaa	21	4	11	5	0	2	4	2	1	0	3	2	6	2	5	0	3	1	1	0	3	8	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:110411672G>T	ENST00000344895.3	+	4	579	c.380G>T	c.(379-381)aGg>aTg	p.R127M	TSLP_ENST00000420978.2_Missense_Mutation_p.R127M|TSLP_ENST00000379706.4_Missense_Mutation_p.R31M|CTC-551A13.2_ENST00000507269.3_RNA	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	127						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATGAAGAAGAGGAGAAAAAGG	0.353																																																	0													109	108	108					5																	110411672		2202	4300	6502	SO:0001583	missense	0			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.380G>T	5.37:g.110411672G>T	ENSP00000339804:p.Arg127Met		Q8IW99	Missense_Mutation	SNP	NULL	p.R127M	ENST00000344895.3	37	c.380	CCDS4101.1	5	.	.	.	.	.	.	.	.	.	.	G	7.973	0.749474	0.15778	.	.	ENSG00000145777	ENST00000420978;ENST00000344895;ENST00000379706	.	.	.	3.29	-1.05	0.10036	.	1.199990	0.06299	N	0.700572	T	0.32556	0.0833	N	0.19112	0.55	0.09310	N	1	D	0.53745	0.962	P	0.51550	0.673	T	0.36601	-0.9741	9	0.72032	D	0.01	-1.4043	7.7886	0.29106	0.0:0.5153:0.3094:0.1753	.	127	Q969D9	TSLP_HUMAN	M	127;127;31	.	ENSP00000339804:R127M	R	+	2	0	TSLP	110439571	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.115000	0.15540	-0.236000	0.09753	-0.951000	0.02657	AGG	TSLP	-	NULL	ENSG00000145777		0.353	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSLP	HGNC	protein_coding	OTTHUMT00000250717.1	-	0	28	0	G	NM_033035		110411672	1	tier1	-	no_errors	ENST00000344895	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.000	T	T	110411672	G	T	110411672	3	4	39	1	0	0	0	0	1	0	0	0	16676	1000	35	3	394	3	TSLP	5	110411672	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	20429946	110411672	70503588	88	9402											
AQPEP	206338	genome.wustl.edu	37	chr5	115298449	115298449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgagcgcgtcccaccGtcggagctgcctggactcag	6	6	13	16	5	1	0	1	0	0	0	3	3	2	2	3	2	4	1	3	2	0	0	rs376555664		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:115298449G>A	ENST00000357872.4	+	1	259	c.135G>A	c.(133-135)ccG>ccA	p.P45P	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		45						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P45P(1)									GCGTCCCACCGTCGGAGCTGC	0.701																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						G		0,4338		0,0,2169	17	20	19		135	-1.8	0	5		19	1,8515		0,1,4257	no	coding-synonymous	AQPEP	NM_173800.4		0,1,6426	AA,AG,GG		0.0117,0.0,0.0078		45/991	115298449	1,12853	2169	4258	6427	SO:0001819	synonymous_variant	0																														ENST00000357872.4:c.135G>A	5.37:g.115298449G>A			A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P45	ENST00000357872.4	37	c.135	CCDS4124.1	5																																																																																			AQPEP	-	NULL	ENSG00000172901		0.701	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1		0	11	0	G			115298449	1			no_errors	ENST00000357872	ensembl	human	known	74_37	silent	37.50	5	3	SNP	0.000	A	A	115298449	G	A	115298449	2	1	39	1	0	0	0	0	0	0	0	1	834	1132	40	1		1	AQPEP	5	115298449	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4886777	115298449	65616811	89	9403											
MEGF10	84466	genome.wustl.edu	37	chr5	126732405	126732405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcagagatgccagtgccaGaatggagccacctgcgacca	12	5	11	13	1	1	2	1	0	0	2	1	5	1	3	5	1	4	0	5	1	1	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:126732405G>C	ENST00000274473.6	+	7	861	c.594G>C	c.(592-594)caG>caC	p.Q198H	MEGF10_ENST00000503335.2_Missense_Mutation_p.Q198H|MEGF10_ENST00000418761.2_Missense_Mutation_p.Q198H|MEGF10_ENST00000508365.1_Missense_Mutation_p.Q198H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	198	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GCCAGTGCCAGAATGGAGCCA	0.642																																																	0													56	57	57					5																	126732405		2203	4300	6503	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.594G>C	5.37:g.126732405G>C	ENSP00000274473:p.Gln198His		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.Q198H	ENST00000274473.6	37	c.594	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	9.072	0.997184	0.19043	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.63	5.63	0.86233	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.17577	0.0422	L	0.45698	1.435	0.58432	D	0.999999	B;B	0.15141	0.008;0.012	B;B	0.20184	0.028;0.009	T	0.02173	-1.1201	10	0.36615	T	0.2	-12.7987	12.9473	0.58379	0.0739:0.0:0.9261:0.0	.	198;198	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	H	198	ENSP00000423354:Q198H;ENSP00000423195:Q198H;ENSP00000416284:Q198H;ENSP00000274473:Q198H	ENSP00000274473:Q198H	Q	+	3	2	MEGF10	126760304	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.088000	0.41663	2.656000	0.90262	0.655000	0.94253	CAG	MEGF10	-	pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000145794		0.642	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2		0	100	0	G	NM_032446		126732405	1			no_errors	ENST00000274473	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	C	C	126732405	G	C	126732405	3	2	39	1	0	0	0	0	1	0	0	0	9498	933	33	5	612	5	MEGF10	5	126732405	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	11433956	126732405	54182855	90	9404											
C5orf20	140947	genome.wustl.edu	37	chr5	134782217	134782217	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaagccagcctgacggttCcagctgttaggagaaagtga	11	8	13	9	1	0	4	0	3	0	1	1	5	1	4	3	2	3	3	3	2	3	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:134782217C>T	ENST00000503143.2	-	1	821	c.582G>A	c.(580-582)tgG>tgA	p.W194*	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		194	Ser-rich.					nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTGACGGTTCCAGCTGTTAG	0.512																																																	0													84	85	85					5																	134782217		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000503143.2:c.582G>A	5.37:g.134782217C>T	ENSP00000421871:p.Trp194*			Nonsense_Mutation	SNP	NULL	p.W194*	ENST00000503143.2	37	c.582	CCDS4186.1	5	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159827	0.57368	.	.	ENSG00000251380	ENST00000503143	.	.	.	3.39	-1.93	0.07594	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.7145	0.12889	0.1477:0.4341:0.0:0.4182	.	.	.	.	X	194	.	ENSP00000421871:W194X	W	-	3	0	C5orf20	134810116	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.437000	0.06914	-0.847000	0.04168	-2.697000	0.00138	TGG	C5orf20	-	NULL	ENSG00000251380		0.512	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf20	HGNC	protein_coding	OTTHUMT00000372531.1	-	0	70	0	C			134782217	-1	tier1	-	no_errors	ENST00000503143	ensembl	human	known	74_37	nonsense	40.48	25	17	SNP	0.000	T	T	134782217	C	T	134782217	4	4	39	1	0	0	0	0	0	1	0	0	2291	856	30	3	156	3	C5orf20	5	134782217	Nonsense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8049812	134782217	46133043	91	9405											
CXXC5	51523	genome.wustl.edu	37	chr5	139060532	139060532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcacaaaagtggtgctgtgGccagcctgctgagcaaggca	11	6	14	10	0	0	1	0	1	0	0	0	1	0	1	2	3	5	5	2	3	3	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:139060532G>T	ENST00000302517.3	+	2	1138	c.424G>T	c.(424-426)Gcc>Tcc	p.A142S	CXXC5_ENST00000511048.1_Missense_Mutation_p.A142S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	142					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGCTGTGGCCAGCCTGCT	0.637																																																	0													57	70	66					5																	139060532		2119	4244	6363	SO:0001583	missense	0			AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.424G>T	5.37:g.139060532G>T	ENSP00000302543:p.Ala142Ser		B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A142S	ENST00000302517.3	37	c.424	CCDS43370.1	5	.	.	.	.	.	.	.	.	.	.	G	14.40	2.525112	0.44969	.	.	ENSG00000171604	ENST00000302517;ENST00000504844;ENST00000511048;ENST00000502716;ENST00000511457	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.68	5.68	0.88126	.	0.382594	0.26995	N	0.021447	T	0.39172	0.1068	L	0.27053	0.805	0.43830	D	0.996403	B	0.21452	0.056	B	0.18263	0.021	T	0.17561	-1.0365	9	.	.	.	-7.2395	13.8587	0.63545	0.0:0.0:0.838:0.1619	.	142	Q7LFL8	CXXC5_HUMAN	S	142	ENSP00000302543:A142S;ENSP00000427379:A142S;ENSP00000424219:A142S;ENSP00000430949:A142S	.	A	+	1	0	CXXC5	139040716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.224000	0.51238	2.681000	0.91329	0.561000	0.74099	GCC	CXXC5	-	NULL	ENSG00000171604		0.637	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC5	HGNC	protein_coding	OTTHUMT00000372744.1	-	0	132	0	G	NM_016463		139060532	1	tier1	-	no_errors	ENST00000302517	ensembl	human	known	74_37	missense	41.38	34	24	SNP	1.000	T	T	139060532	G	T	139060532	3	4	39	1	0	0	0	0	1	0	0	0	4108	1203	42	3	426	3	CXXC5	5	139060532	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4278315	139060532	41854728	92	9406											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215502	140215502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctacgtgtcagtgcacGcggagagcggcaaggtgtac	9	6	16	10	5	1	1	1	0	0	1	1	3	1	1	0	3	5	4	0	3	3	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:140215502G>A	ENST00000525929.1	+	1	1534	c.1534G>A	c.(1534-1536)Gcg>Acg	p.A512T	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A512T|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGTGCACGCGGAGAGCGG	0.701																																					NSCLC(160;258 2013 5070 22440 28951)												0													68	73	71					5																	140215502		2203	4296	6499	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1534G>A	5.37:g.140215502G>A	ENSP00000436426:p.Ala512Thr		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A512T	ENST00000525929.1	37	c.1534	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417064	0.42918	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.47869	0.83;0.83	4.01	1.99	0.26369	Cadherin (4);Cadherin-like (1);	0.305910	0.16548	U	0.209624	T	0.40979	0.1139	L	0.33485	1.01	0.23101	N	0.99829	P;P	0.52692	0.955;0.653	P;P	0.47827	0.512;0.558	T	0.22452	-1.0216	10	0.62326	D	0.03	.	9.3167	0.37939	0.0:0.1097:0.5252:0.365	.	512;512	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	512	ENSP00000436426:A512T;ENSP00000367365:A512T	ENSP00000367365:A512T	A	+	1	0	PCDHA7	140195686	0.000000	0.05858	1.000000	0.80357	0.538000	0.34931	-0.347000	0.07750	0.781000	0.33589	0.306000	0.20318	GCG	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.701	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	352	0	G	NM_018910		140215502	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	25.89	146	51	SNP	0.983	A	A	140215502	G	A	140215502	3	1	39	1	0	0	0	0	1	0	0	0	11568	1087	38	1	1536	1	PCDHA7	5	140215502	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1154970	140215502	40699758	93	9407											
PCDHB13	56123	genome.wustl.edu	37	chr5	140594473	140594473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaggacagtccggtaggcTtcctggttgtgaaggtctct	6	12	14	9	1	1	2	0	2	1	0	4	3	3	3	2	5	0	3	2	5	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:140594473T>C	ENST00000341948.4	+	1	965	c.778T>C	c.(778-780)Ttc>Ctc	p.F260L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	260	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCGGTAGGCTTCCTGGTTGT	0.478																																																	0													174	171	172					5																	140594473		2203	4300	6503	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.778T>C	5.37:g.140594473T>C	ENSP00000345491:p.Phe260Leu		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F260L	ENST00000341948.4	37	c.778	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	t	16.82	3.228134	0.58777	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50277	0.75	3.51	-1.14	0.09741	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28532	0.0706	N	0.16233	0.39	0.09310	N	1	B	0.11235	0.004	B	0.23018	0.043	T	0.25222	-1.0138	9	0.66056	D	0.02	.	5.1982	0.15249	0.2975:0.0:0.2817:0.4207	.	260	Q9Y5F0	PCDBD_HUMAN	L	260	ENSP00000345491:F260L	ENSP00000345491:F260L	F	+	1	0	PCDHB13	140574657	0.000000	0.05858	0.000000	0.03702	0.783000	0.44284	-1.188000	0.03064	-0.447000	0.07138	0.254000	0.18369	TTC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000187372		0.478	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0	94	0	T	NM_018933		140594473	1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	42.16	59	43	SNP	0.001	C	C	140594473	T	C	140594473	3	2	39	1	0	0	0	0	1	0	0	0	11577	1609	56	4	780	4	PCDHB13	5	140594473	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	378971	140594473	40320787	94	9408											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140797861	140797861	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttagaaatcagtgaatcCgtcagcctggggatgggaac	13	8	12	8	1	2	2	2	1	0	1	3	4	3	4	2	3	3	0	2	3	5	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:140797861C>A	ENST00000398594.2	+	1	435	c.435C>A	c.(433-435)tcC>tcA	p.S145S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	145	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGTGAATCCGTCAGCCTGG	0.388																																																	0													103	100	101					5																	140797861		1885	4119	6004	SO:0001819	synonymous_variant	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.435C>A	5.37:g.140797861C>A			Q9UN63	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S145	ENST00000398594.2	37	c.435	CCDS47293.1	5																																																																																			PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000254122		0.388	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	46	0	C	NM_018927		140797861	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.000	A	A	140797861	C	A	140797861	2	1	39	1	0	0	0	0	0	0	0	1	11607	639	23	2		2	PCDHGB7	5	140797861	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	203388	140797861	40117399	95	9409											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140871075	140871075	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgagctcggacggcacGctcaagtacatggaggtgac	10	6	15	10	3	1	2	1	2	0	0	2	4	1	4	0	5	2	4	0	5	2	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:140871075G>T	ENST00000252087.1	+	1	2268	c.2268G>T	c.(2266-2268)acG>acT	p.T756T	PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	756					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T756T(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGACGGCACGCTCAAGTACA	0.637																																																	2	Substitution - coding silent(2)	breast(2)											44	43	43					5																	140871075		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2268G>T	5.37:g.140871075G>T			Q9Y5C2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T756	ENST00000252087.1	37	c.2268	CCDS4263.1	5																																																																																			PCDHGC5	-	NULL	ENSG00000240764		0.637	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1		0	88	0	G	NM_018929		140871075	1			no_errors	ENST00000252087	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.010	T	T	140871075	G	T	140871075	2	4	39	1	0	0	0	0	0	0	0	1	11610	1074	38	2		2	PCDHGC5	5	140871075	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	73214	140871075	40044185	96	9410											
KCTD16	57528	genome.wustl.edu	37	chr5	143586970	143586970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattttatctcaaattcaaGcacctggaaagggcttttga	13	13	8	7	0	2	2	2	1	1	1	3	3	2	3	1	2	1	2	1	2	4	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:143586970G>T	ENST00000507359.3	+	2	1784	c.693G>T	c.(691-693)aaG>aaT	p.K231N	KCTD16_ENST00000512467.1_Missense_Mutation_p.K231N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	231					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCAAATTCAAGCACCTGGAAA	0.428																																																	0													64	68	67					5																	143586970		2203	4300	6503	SO:0001583	missense	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.693G>T	5.37:g.143586970G>T	ENSP00000426548:p.Lys231Asn		Q9P2M9	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.K231N	ENST00000507359.3	37	c.693	CCDS34260.1	5	.	.	.	.	.	.	.	.	.	.	G	7.726	0.698234	0.15106	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.40756	1.02;1.02	5.69	-1.72	0.08107	.	0.047357	0.85682	D	0.000000	T	0.17238	0.0414	N	0.20574	0.59	0.42608	D	0.993302	B	0.21606	0.058	B	0.23419	0.046	T	0.21621	-1.0240	10	0.06236	T	0.91	.	3.269	0.06875	0.2114:0.2082:0.4743:0.1061	.	231	Q68DU8	KCD16_HUMAN	N	231	ENSP00000424151:K231N;ENSP00000426548:K231N	ENSP00000426548:K231N	K	+	3	2	KCTD16	143567163	1.000000	0.71417	0.792000	0.32020	0.996000	0.88848	2.037000	0.41174	-0.218000	0.10018	0.561000	0.74099	AAG	KCTD16	-	NULL	ENSG00000183775		0.428	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3	-	0	34	0	G	XM_098368		143586970	1	tier1	-	no_errors	ENST00000507359	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	143586970	G	T	143586970	3	4	39	1	0	0	0	0	1	0	0	0	8130	962	34	3	695	3	KCTD16	5	143586970	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2715895	143586970	37328290	97	9411											
ITK	3702	genome.wustl.edu	37	chr5	156638349	156638349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccagatcgtgagagcCggcagcgctgggtgctggcc	5	8	16	12	3	0	2	0	1	0	2	2	3	1	2	3	3	4	4	3	3	0	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:156638349C>T	ENST00000422843.3	+	3	447	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TCGTGAGAGCCGGCAGCGCTG	0.493			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													118	110	113					5																	156638349		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.295C>T	5.37:g.156638349C>T	ENSP00000398655:p.Arg99Trp		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R99W	ENST00000422843.3	37	c.295	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077806	0.76528	.	.	ENSG00000113263	ENST00000422843	T	0.78246	-1.16	5.8	4.03	0.46877	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.92077	3.27	0.53688	D	0.999978	D	0.89917	1.0	D	0.74674	0.984	D	0.88754	0.3252	10	0.87932	D	0	.	8.6618	0.34097	0.2751:0.654:0.0:0.0709	.	99	Q08881	ITK_HUMAN	W	99	ENSP00000398655:R99W	ENSP00000398655:R99W	R	+	1	2	ITK	156570927	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.335000	0.33839	0.791000	0.33826	-0.122000	0.15005	CGG	ITK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113263		0.493	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	50	0	C			156638349	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	T	T	156638349	C	T	156638349	3	4	39	1	0	0	0	0	1	0	0	0	7936	643	23	1	305	1	ITK	5	156638349	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	13051379	156638349	24276911	98	9412											
HMMR	3161	genome.wustl.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A																															aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs|RP11-80G7.1_ENST00000521666.1_RNA|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																																	0																																										SO:0001589	frameshift_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	NULL	p.Q667fs	ENST00000358715.3	37	c.1992_1993	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1		0	46	0	0	NM_012484		162917426	1			no_errors	ENST00000393915	ensembl	human	known	74_37	frame_shift_ins	11.39	70	9	INS	0.976:1.000	A	A	162917426	-	A	162917425	7	5	39	1	0	1	1	0	0	0	0	0	7269	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-JY-A6FG-01A-11D-A33E-09	6279076	162917425	17997835	99	9413											
TFAP2A	7020	genome.wustl.edu	37	chr6	10400783	10400783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggaaattcggtttcgCacacgtacccaaagtccctg	10	9	10	12	3	0	0	0	0	0	0	3	1	1	1	2	3	1	4	2	3	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:10400783C>A	ENST00000482890.1	-	7	1275	c.923G>T	c.(922-924)tGc>tTc	p.C308F	TFAP2A_ENST00000379604.2_Missense_Mutation_p.C308F|TFAP2A_ENST00000379608.3_Missense_Mutation_p.C302F|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.C304F|TFAP2A_ENST00000379613.3_Missense_Mutation_p.C310F			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	308	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTCGGTTTCGCACACGTACCC	0.512																																																	0													130	116	121					6																	10400783		2203	4300	6503	SO:0001583	missense	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.923G>T	6.37:g.10400783C>A	ENSP00000418541:p.Cys308Phe		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.C308F	ENST00000482890.1	37	c.923	CCDS4510.1	6	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317246	0.81469	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97279	-4.32;-4.32;-4.32;-4.32;-4.32	5.29	5.29	0.74685	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.91920	3.255	0.80722	D	1	D;P;D	0.61697	0.966;0.927;0.99	P;P;D	0.69142	0.69;0.596;0.962	D	0.99727	1.1011	10	0.87932	D	0	-7.4764	18.9454	0.92620	0.0:1.0:0.0:0.0	.	304;308;302	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	F	310;308;304;302;308	ENSP00000368933:C310F;ENSP00000368924:C308F;ENSP00000316516:C304F;ENSP00000368928:C302F;ENSP00000418541:C308F	ENSP00000316516:C304F	C	-	2	0	TFAP2A	10508769	1.000000	0.71417	0.998000	0.56505	0.927000	0.56198	7.818000	0.86416	2.463000	0.83235	0.655000	0.94253	TGC	TFAP2A	-	pfam_TF_AP2_C	ENSG00000137203		0.512	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	-	0	40	0	C	NM_003220		10400783	-1	tier1	-	no_errors	ENST00000379604	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	A	A	10400783	C	A	10400783	3	1	39	1	0	0	0	0	1	0	0	0	15834	710	25	3	398	3	TFAP2A	6	10400783	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		10400783	160714284	100	9414											
ATXN1	6310	genome.wustl.edu	37	chr6	16328464	16328464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtaggggccttctcctcGgaggaccggctggtggcggg	4	7	20	10	3	1	0	0	0	1	0	3	2	1	2	3	9	0	2	3	9	1	2	rs370874989		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:16328464G>A	ENST00000244769.4	-	8	1014	c.78C>T	c.(76-78)tcC>tcT	p.S26S	ATXN1_ENST00000436367.1_Silent_p.S26S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	26					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTTCTCCTCGGAGGACCGGC	0.692																																																	0								A	,	1,4403		0,1,2201	39	43	42		78,78	-10	0.1	6		42	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	ATXN1	NM_000332.3,NM_001128164.1	,	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	,	26/816,26/816	16328464	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"Ataxins"	10548	protein-coding gene	gene with protein product		601556	"spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.78C>T	6.37:g.16328464G>A			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.S26	ENST00000244769.4	37	c.78	CCDS34342.1	6																																																																																			ATXN1	-	NULL	ENSG00000124788		0.692	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	-	0	50	0	G	NM_000332		16328464	-1	tier1	-	no_errors	ENST00000244769	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.001	A	A	16328464	G	A	16328464	2	1	39	1	0	0	0	0	0	0	0	1	1210	1103	39	1		1	ATXN1	6	16328464	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	5927681	16328464	154786603	101	9415											
FAM65B	9750	genome.wustl.edu	37	chr6	24809943	24809943	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaacaacaataaaactcAcccagagacaagagggtttc	20	5	6	10	0	1	2	1	0	0	2	2	3	1	2	1	1	4	1	1	1	7	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:24809943A>T	ENST00000259698.4	-	22	3282		c.e22+1		FAM65B_ENST00000538035.1_Splice_Site	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B						cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AATAAAACTCACCCAGAGACA	0.413																																																	0													120	99	105					6																	24809943		692	1591	2283	SO:0001630	splice_region_variant	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.3106+1T>A	6.37:g.24809943A>T			A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Splice_Site	SNP	-	e21+2	ENST00000259698.4	37	c.3106+2	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	A	18.00	3.524434	0.64747	.	.	ENSG00000111913	ENST00000259698;ENST00000538035	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7847	0.63102	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM65B	24917922	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.020000	0.70826	1.955000	0.56771	0.533000	0.62120	.	FAM65B	-	-	ENSG00000111913		0.413	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2		0	43	0	A		Intron	24809943	-1			no_errors	ENST00000259698	ensembl	human	known	74_37	splice_site	18.82	68	16	SNP	1.000	T	T	24809943	A	T	24809943	5	4	39	1	0	0	0	0	0	0	1	0	5622	173	6	5	106	5	FAM65B	6	24809943	Splice_Site	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	8481479	24809943	146305124	102	9416											
HIST1H4E	8367	genome.wustl.edu	37	chr6	26204991	26204991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatccggcgccttgctcGtcgcgggggtgtcaagcgca	4	8	15	14	6	1	0	1	0	0	0	4	0	2	0	3	3	3	2	3	3	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:26204991G>C	ENST00000360441.4	+	1	134	c.119G>C	c.(118-120)cGt>cCt	p.R40P		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	40					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CGCCTTGCTCGTCGCGGGGGT	0.567																																																	0													86	86	86					6																	26204991		2203	4300	6503	SO:0001583	missense	0			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.119G>C	6.37:g.26204991G>C	ENSP00000353624:p.Arg40Pro		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R40P	ENST00000360441.4	37	c.119	CCDS4593.1	6	.	.	.	.	.	.	.	.	.	.	.	14.96	2.691642	0.48097	.	.	ENSG00000198518	ENST00000360441	T	0.77358	-1.09	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000001	T	0.78786	0.4338	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.82261	-0.0545	7	0.87932	D	0	.	12.403	0.55424	0.0:0.0:1.0:0.0	.	.	.	.	P	40	ENSP00000353624:R40P	ENSP00000353624:R40P	R	+	2	0	HIST1H4E	26312970	1.000000	0.71417	0.719000	0.30619	0.023000	0.10783	7.254000	0.78329	1.521000	0.48983	0.655000	0.94253	CGT	HIST1H4E	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198518		0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	-	0	94	0	G	NM_003545		26204991	1	tier1	-	no_errors	ENST00000360441	ensembl	human	known	74_37	missense	32.43	50	24	SNP	1.000	C	C	26204991	G	C	26204991	3	2	39	1	0	0	0	0	1	0	0	0	7196	1145	40	5	121	5	HIST1H4E	6	26204991	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1395048	26204991	144910076	103	9417											
MDC1	9656	genome.wustl.edu	37	chr6	30672262	30672262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggacaattgattcaggggtCttgacagaggacctatttgt	10	12	13	6	0	2	3	1	2	1	1	2	5	2	5	1	4	0	0	1	4	2	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:30672262C>G	ENST00000376406.3	-	10	5345	c.4698G>C	c.(4696-4698)aaG>aaC	p.K1566N	MDC1_ENST00000376405.2_Missense_Mutation_p.K1302N|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1566	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						ATTCAGGGGTCTTGACAGAGG	0.592								Other conserved DNA damage response genes																																									0													130	144	139					6																	30672262		2203	4300	6503	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4698G>C	6.37:g.30672262C>G	ENSP00000365588:p.Lys1566Asn		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.K1566N	ENST00000376406.3	37	c.4698	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254896	0.39896	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.14022	2.54;2.54	4.26	0.405	0.16361	.	.	.	.	.	T	0.12689	0.0308	M	0.70275	2.135	0.09310	N	1	B;D	0.63046	0.374;0.992	B;P	0.58210	0.283;0.835	T	0.08066	-1.0740	9	0.40728	T	0.16	-5.2109	6.9526	0.24554	0.0:0.6049:0.0:0.3951	.	1302;1566	Q14676-2;Q14676	.;MDC1_HUMAN	N	1566;1302;1279;1132	ENSP00000365588:K1566N;ENSP00000365587:K1302N	ENSP00000365587:K1302N	K	-	3	2	MDC1	30780241	0.000000	0.05858	0.000000	0.03702	0.490000	0.33462	-0.001000	0.12947	0.058000	0.16222	0.449000	0.29647	AAG	MDC1	-	NULL	ENSG00000137337		0.592	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	78	0	C	NM_014641		30672262	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	38.24	42	26	SNP	0.000	G	G	30672262	C	G	30672262	3	3	39	1	0	0	0	0	1	0	0	0	9441	912	32	5	1595	5	MDC1	6	30672262	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	4467271	30672262	140442805	104	9418											
TUBB	203068	genome.wustl.edu	37	chr6	30690400	30690401	+	Frame_Shift_Del	DEL	TG	TG	-																															ctgcagctggaccgcatctcTgtgtactacaatgaagccac																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:30690400_30690401delTG	ENST00000327892.8	+	2	450_451	c.144_145delTG	c.(142-147)tctgtgfs	p.V49fs	TUBB_ENST00000396389.1_Frame_Shift_Del_p.V31fs|TUBB_ENST00000435534.1_Frame_Shift_Del_p.V49fs|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000396384.1_5'UTR|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	49					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	ACCGCATCTCTGTGTACTACAA	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"Tubulins"	20778	protein-coding gene	gene with protein product	"class I beta-tubulin", "beta1-tubulin"	191130	"tubulin, beta polypeptide", "tubulin, beta"			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.144_145delTG	6.37:g.30690402_30690403delTG	ENSP00000339001:p.Val49fs		P05218|Q8WUC1|Q9CY33	Frame_Shift_Del	DEL	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.Y50fs	ENST00000327892.8	37	c.144_145	CCDS4687.1	6																																																																																			TUBB	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin	ENSG00000196230		0.594	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2		0	106	0	TG	NM_178014		30690401	1	tier1		no_errors	ENST00000327892	ensembl	human	known	74_37	frame_shift_del	39.73	44	29	DEL	0.999:1.000	-	-	30690401	TG	-	30690400	7	5	39	1	0	1	0	1	0	0	0	0	16801	1567	55	0	150	0	TUBB	6	30690400	Frame_Shift_Del	DEL	TG	TCGA-JY-A6FG-01A-11D-A33E-09	18138	30690400	140424667	105	9419											
HLA-B	3106	genome.wustl.edu	37	chr6	31322980	31322980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgcccacgatggggaCggtggactgggaagacggct	11	5	16	9	3	0	1	0	0	0	1	0	5	0	4	1	6	2	1	1	6	3	0	rs1131500	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:31322980C>A	ENST00000412585.2	-	5	944	c.916G>T	c.(916-918)Gtc>Ttc	p.V306F		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	306	Connecting peptide.		V -> I (in dbSNP:rs1131500).		antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						ACGATGGGGACGGTGGACTGG	0.587									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													73	74	74					6																	31322980		1511	2709	4220	SO:0001583	missense	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.916G>T	6.37:g.31322980C>A	ENSP00000399168:p.Val306Phe		Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.V306F	ENST00000412585.2	37	c.916	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	8.327	0.825574	0.16749	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	T	0.00638	6.04	3.69	-3.9	0.04181	Immunoglobulin-like fold (1);	2.155470	0.02842	U	0.128113	T	0.00666	0.0022	M	0.91196	3.185	0.09310	N	1	P	0.38767	0.646	B	0.43301	0.415	T	0.25152	-1.0140	10	0.87932	D	0	.	3.0764	0.06248	0.1483:0.4867:0.1499:0.2152	.	306	P01889	1B07_HUMAN	F	306;185	ENSP00000399168:V306F	ENSP00000399168:V306F	V	-	1	0	HLA-B	31430959	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.343000	0.02642	-0.635000	0.05531	-0.570000	0.04155	GTC	HLA-B	-	NULL	ENSG00000234745		0.587	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	-	0	107	0	C	NM_005514		31322980	-1	tier1	-	no_errors	ENST00000412585	ensembl	human	known	74_37	missense	35.23	56	31	SNP	0.000	A	A	31322980	C	A	31322980	3	1	39	1	0	0	0	0	1	0	0	0	7223	536	19	2	184	2	HLA-B	6	31322980	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	632580	31322980	139792087	106	9420											
LY6G5B	58496	genome.wustl.edu	37	chr6	31638955	31638955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcccgacatccggacGtgccacttctgcctcgtaga	6	10	9	16	4	1	1	0	0	1	1	4	3	3	2	5	1	2	2	5	1	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:31638955G>A	ENST00000375864.4	+	2	865	c.81G>A	c.(79-81)acG>acA	p.T27T	LY6G5B_ENST00000409525.1_5'UTR|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.V194M	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	27	UPAR/Ly6.					extracellular region (GO:0005576)				lung(4)	4						ACATCCGGACGTGCCACTTCT	0.547																																																	0													250	238	242					6																	31638955		1511	2709	4220	SO:0001819	synonymous_variant	0			AF129756	CCDS34400.1	6p21.3	2008-08-01	2002-07-29	2002-08-01	ENSG00000240053	ENSG00000240053			13931	protein-coding gene	gene with protein product		610433	"chromosome 6 open reading frame 19"	C6orf19		8812450, 12079290, 17008713	Standard	NM_021221		Approved	G5b		Q8NDX9	OTTHUMG00000031227	ENST00000375864.4:c.81G>A	6.37:g.31638955G>A			B0UXB2|B0UZ65|B0UZP8|B7ZCA3|Q5SQ62|Q5SST3|Q9UKT0|Q9UMQ0	Missense_Mutation	SNP	pfam_Casein_kinase_II_reg-sub,superfamily_Casein_kinase_II_reg-sub,prints_Casein_kinase_II_reg-sub	p.V194M	ENST00000375864.4	37	c.580	CCDS34400.1	6	.	.	.	.	.	.	.	.	.	.	G	9.886	1.202984	0.22121	.	.	ENSG00000204435	ENST00000375880	.	.	.	4.44	0.538	0.17150	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.18873	N	0.999988	B	0.27853	0.191	B	0.19148	0.024	T	0.14783	-1.0460	6	0.36615	T	0.2	-9.3205	4.5258	0.11981	0.0:0.4258:0.3681:0.206	.	194	Q5SRQ3	.	M	194	.	ENSP00000365040:V194M	V	+	1	0	CSNK2B	31746934	0.432000	0.25554	0.998000	0.56505	0.480000	0.33159	-0.278000	0.08490	0.210000	0.20664	-0.234000	0.12200	GTG	CSNK2B-LY6G5B-1181	-	NULL	ENSG00000263020		0.547	LY6G5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263020	Uniprot_gn	protein_coding	OTTHUMT00000124389.4	-	0	73	0	G			31638955	1	tier1	-	no_errors	ENST00000375880	ensembl	human	putative	74_37	missense	31.88	47	22	SNP	0.985	A	A	31638955	G	A	31638955	2	1	39	1	0	0	0	0	0	0	0	1	9128	1132	40	1		1	LY6G5B	6	31638955	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	315975	31638955	139476112	107	9421											
HLA-DOA	3111	genome.wustl.edu	37	chr6	32975251	32975251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagtgacagtttggccGttgcgcagccaggtgatatt	7	11	12	11	2	1	2	1	2	0	0	1	2	1	2	3	2	2	3	3	2	1	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:32975251G>A	ENST00000229829.5	-	3	525	c.450C>T	c.(448-450)aaC>aaT	p.N150N	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.N120N	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	150	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)	p.N150N(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CAGTTTGGCCGTTGCGCAGCC	0.587																																																	1	Substitution - coding silent(1)	large_intestine(1)											184	173	177					6																	32975251		1511	2709	4220	SO:0001819	synonymous_variant	0			M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.450C>T	6.37:g.32975251G>A			Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.N150	ENST00000229829.5	37	c.450	CCDS4763.1	6																																																																																			HLA-DOA	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000204252		0.587	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DOA	HGNC	protein_coding	OTTHUMT00000076426.2	-	0	91	0	G	NM_002119		32975251	-1	tier1	-	no_errors	ENST00000229829	ensembl	human	known	74_37	silent	37.93	36	22	SNP	0.823	A	A	32975251	G	A	32975251	2	1	39	1	0	0	0	0	0	0	0	1	7227	1136	40	1		1	HLA-DOA	6	32975251	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1336296	32975251	138139816	108	9422											
PHF1	5252	genome.wustl.edu	37	chr6	33382137	33382137	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgggacagtttgctcctGggggaggtaaggggtagtgc	8	10	18	5	0	0	0	0	0	0	0	1	2	1	2	1	6	2	4	1	6	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:33382137G>T	ENST00000374516.3	+	9	1141	c.870G>T	c.(868-870)ctG>ctT	p.L290L	PHF1_ENST00000374512.3_Silent_p.L290L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	290					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GTTTGCTCCTGGGGGAGGTAA	0.493											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	93	92					6																	33382137		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.870G>T	6.37:g.33382137G>T		839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L290	ENST00000374516.3	37	c.870	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.493	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3	-	0	53	0	G			33382137	1	tier1	-	no_errors	ENST00000374516	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.989	T	T	33382137	G	T	33382137	2	4	39	1	0	0	0	0	0	0	0	1	11859	1335	47	3		3	PHF1	6	33382137	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	406886	33382137	137732930	109	9423											
TBC1D22B	55633	genome.wustl.edu	37	chr6	37281657	37281657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcactggaagagcttgtcagCcggattgatggtaggttcag	9	10	15	7	1	2	2	2	1	0	1	2	4	2	4	1	4	2	4	1	4	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:37281657C>T	ENST00000373491.3	+	10	1301	c.1155C>T	c.(1153-1155)agC>agT	p.S385S		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	385	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AGCTTGTCAGCCGGATTGATG	0.498																																																	0													191	170	177					6																	37281657		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.1155C>T	6.37:g.37281657C>T			A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S385	ENST00000373491.3	37	c.1155	CCDS4832.1	6																																																																																			TBC1D22B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000065491		0.498	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1		0	47	0	C	NM_017772		37281657	1			no_errors	ENST00000373491	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	37281657	C	T	37281657	2	4	39	1	0	0	0	0	0	0	0	1	15659	738	26	3		3	TBC1D22B	6	37281657	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	3899520	37281657	133833410	110	9424											
KIF6	221458	genome.wustl.edu	37	chr6	39507786	39507786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtcaactgacctattttCttgtggagcaaactggatct	10	15	8	8	0	3	1	1	1	2	0	3	3	3	3	1	2	3	1	1	2	4	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:39507786C>A	ENST00000287152.7	-	13	1732	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	KIF6_ENST00000373213.4_Missense_Mutation_p.K385N|KIF6_ENST00000373216.3_Missense_Mutation_p.K546N|KIF6_ENST00000373215.3_Missense_Mutation_p.K546N|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	546					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GACCTATTTTCTTGTGGAGCA	0.423																																																	0													167	177	174					6																	39507786		2203	4300	6503	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1638G>T	6.37:g.39507786C>A	ENSP00000287152:p.Lys546Asn		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K546N	ENST00000287152.7	37	c.1638	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.688|3.688	-0.064027|-0.064027	0.07273|0.07273	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215|ENST00000458470	T;T;T;T|.	0.71698|.	-0.57;-0.59;-0.4;-0.58|.	6.04|6.04	-2.7|-2.7	0.06004|0.06004	.|.	.|.	.|.	.|.	.|.	T|T	0.19725|0.19725	0.0474|0.0474	N|N	0.22421|0.22421	0.69|0.69	0.43766|0.43766	D|D	0.996286|0.996286	B;B;B|.	0.16396|.	0.0;0.017;0.0|.	B;B;B|.	0.11329|.	0.001;0.006;0.0|.	T|T	0.14504|0.14504	-1.0470|-1.0470	9|5	0.22706|.	T|.	0.39|.	.|.	7.1025|7.1025	0.25346|0.25346	0.0:0.4202:0.1316:0.4482|0.0:0.4202:0.1316:0.4482	.|.	546;546;546|.	E7EUN7;Q6ZMV9-3;Q6ZMV9|.	.;.;KIF6_HUMAN|.	N|I	546;546;385;546|438	ENSP00000287152:K546N;ENSP00000362312:K546N;ENSP00000362309:K385N;ENSP00000362311:K546N|.	ENSP00000287152:K546N|.	K|R	-|-	3|2	2|0	KIF6|KIF6	39615764|39615764	0.001000|0.001000	0.12720|0.12720	0.621000|0.621000	0.29145|0.29145	0.163000|0.163000	0.22366|0.22366	-0.722000|-0.722000	0.04958|0.04958	-0.318000|-0.318000	0.08665|0.08665	-0.471000|-0.471000	0.05019|0.05019	AAG|AGA	KIF6	-	NULL	ENSG00000164627		0.423	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0	62	0	C	NM_145027		39507786	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	36.76	43	25	SNP	0.052	A	A	39507786	C	A	39507786	3	1	39	1	0	0	0	0	1	0	0	0	8335	912	32	3	850	3	KIF6	6	39507786	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2226129	39507786	131607281	111	9425											
HSP90AB1	3326	genome.wustl.edu	37	chr6	44217808	44217811	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															tcctccatcttaaagaagatCagacagagtacctagaagag																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:44217808_44217811delCAGA	ENST00000371554.1	+	5	779_782	c.565_568delCAGA	c.(565-570)cagacafs	p.QT189fs	HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.QT189fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.QT189fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	189					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TAAAGAAGATCAGACAGAGTACCT	0.422																																																	0																																										SO:0001589	frameshift_variant	0			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"Heat shock proteins / HSPC"	5258	protein-coding gene	gene with protein product		140572	"heat shock 90kD protein 1, beta", "heat shock 90kDa protein 1, beta"	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.565_568delCAGA	6.37:g.44217812_44217815delCAGA	ENSP00000360609:p.Gln189fs		B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.T190fs	ENST00000371554.1	37	c.565_568	CCDS4909.1	6																																																																																			HSP90AB1	-	superfamily_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	ENSG00000096384		0.422	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1		0	46	0	CAGA	NM_007355		44217811	1	tier1		no_errors	ENST00000353801	ensembl	human	known	74_37	frame_shift_del	18.75	52	12	DEL	1.000:1.000:1.000:1.000	-	-	44217811	CAGA	-	44217808	7	5	39	1	0	1	0	1	0	0	0	0	7429	827	29	0	579	0	HSP90AB1	6	44217808	Frame_Shift_Del	DEL	CAGA	TCGA-JY-A6FG-01A-11D-A33E-09	4710022	44217808	126897259	112	9426											
KIAA1586	57691	genome.wustl.edu	37	chr6	56918934	56918934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaactgcattacagtcaaGatcaactaatattaagaaag	18	11	5	7	0	3	2	3	0	0	2	3	2	3	2	0	0	4	1	0	0	8	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:56918934G>A	ENST00000370733.4	+	4	1844	c.1637G>A	c.(1636-1638)aGa>aAa	p.R546K	KIAA1586_ENST00000545356.1_Missense_Mutation_p.R519K	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	546							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTACAGTCAAGATCAACTAAT	0.299																																																	0													30	31	31					6																	56918934		2174	4281	6455	SO:0001583	missense	0			AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1637G>A	6.37:g.56918934G>A	ENSP00000359768:p.Arg546Lys		A8K4M3|Q8IW25	Missense_Mutation	SNP	superfamily_RNaseH-like_dom	p.R546K	ENST00000370733.4	37	c.1637	CCDS34480.1	6	.	.	.	.	.	.	.	.	.	.	g	7.298	0.612355	0.14066	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.21932	1.98;1.98	3.84	2.02	0.26589	Ribonuclease H-like (1);	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.20764	N	0.99986	B;B	0.16396	0.017;0.017	B;B	0.12156	0.007;0.007	T	0.47812	-0.9088	9	0.02654	T	1	-3.9313	6.0981	0.20031	0.2414:0.0:0.7586:0.0	.	519;546	F5H2N6;Q9HCI6	.;K1586_HUMAN	K	546;519	ENSP00000359768:R546K;ENSP00000445507:R519K	ENSP00000359768:R546K	R	+	2	0	KIAA1586	57026893	0.996000	0.38824	0.944000	0.38274	0.993000	0.82548	1.282000	0.33226	0.389000	0.25086	0.650000	0.86243	AGA	KIAA1586	-	superfamily_RNaseH-like_dom	ENSG00000168116		0.299	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1586	HGNC	protein_coding	OTTHUMT00000041033.1	-	0	42	0	G	NM_020931		56918934	1	tier1	-	no_errors	ENST00000370733	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.997	A	A	56918934	G	A	56918934	3	1	39	1	0	0	0	0	1	0	0	0	8272	942	33	3	1651	3	KIAA1586	6	56918934	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	12701126	56918934	114196133	113	9427											
PRIM2	5558	genome.wustl.edu	37	chr6	57183284	57183284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggaagctgaggttggCaggtgaccagaggaatgctt	10	8	18	5	0	0	3	0	2	0	1	0	6	0	6	1	6	2	4	1	6	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:57183284C>T	ENST00000607273.1	+	2	128	c.41C>T	c.(40-42)gCa>gTa	p.A14V	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	14					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTGAGGTTGGCAGGTGACCAG	0.413																																																	0													56	55	55					6																	57183284		1877	4116	5993	SO:0001583	missense	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.41C>T	6.37:g.57183284C>T	ENSP00000475738:p.Ala14Val		Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	pfam_DNA_primase_lsu_euk/arc	p.A14V	ENST00000607273.1	37	c.41		6																																																																																			PRIM2	-	NULL	ENSG00000146143		0.413	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		-	0	47	0	C	NM_000947		57183284	1	tier1	-	no_errors	ENST00000607273	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.193	T	T	57183284	C	T	57183284	3	4	39	1	0	0	0	0	1	0	0	0	12533	710	25	3	43	3	PRIM2	6	57183284	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	264350	57183284	113931783	114	9428											
PHIP	55023	genome.wustl.edu	37	chr6	79692782	79692783	+	Nonsense_Mutation	DNP	GC	GC	AA																															aggaactttctttggtggctGcagattaattcctgcatctg																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:79692782_79692783GC>AA	ENST00000275034.4	-	23	2756_2757	c.2589_2590GC>TT	c.(2587-2592)ctGCag>ctTTag	p.Q864*	PHIP_ENST00000479165.1_5'Flank	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	864					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTGGTGGCTGCAGATTAATTC	0.351																																																	0																																										SO:0001587	stop_gained	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2589_2590delinsAA	6.37:g.79692782_79692783delinsAA	ENSP00000275034:p.Gln864*		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation|Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.Q864*|p.L863	ENST00000275034.4	37	c.2590|c.2589	CCDS4987.1	6																																																																																			PHIP	-	NULL	ENSG00000146247		0.351	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	-	0	34	0	G|C			79692782|79692783	-1	tier1	-	no_errors	ENST00000275034	ensembl	human	known	74_37	nonsense|silent	37.50|36.73	30|31	18	SNP	1.000	A	AA	79692783	GC	AA	79692782	4	1	39	1	0	0	0	0	0	1	0	0	11881	1328	46	3	2947	3	PHIP	6	79692782	Nonsense_Mutation	DNP	GC	TCGA-JY-A6FG-01A-11D-A33E-09	22509498	79692782	91422285	115	9429											
GRIK2	2898	genome.wustl.edu	37	chr6	101847189	101847189	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgattctaagtaatccagtCttcaggcgcaccgttaaact	11	11	7	12	3	3	0	1	0	2	0	4	1	4	0	3	1	1	3	3	1	4	5	rs370229898	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:101847189C>A	ENST00000421544.1	+	1	526	c.36C>A	c.(34-36)gtC>gtA	p.V12V	GRIK2_ENST00000358361.3_Silent_p.V12V|GRIK2_ENST00000318991.6_Silent_p.V12V|GRIK2_ENST00000413795.1_Silent_p.V12V|GRIK2_ENST00000369137.3_Silent_p.V12V|GRIK2_ENST00000369138.1_Silent_p.V12V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	12					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTAATCCAGTCTTCAGGCGCA	0.478																																																	0													167	151	157					6																	101847189		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.36C>A	6.37:g.101847189C>A			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V12	ENST00000421544.1	37	c.36	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0	56	0	C			101847189	1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	silent	45.24	23	19	SNP	1.000	A	A	101847189	C	A	101847189	2	1	39	1	0	0	0	0	0	0	0	1	6801	900	32	3		3	GRIK2	6	101847189	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	22154407	101847189	69267878	116	9430											
KIAA1919	91749	genome.wustl.edu	37	chr6	111580924	111580924	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgtgcctccttcctGgggctggtgagagccggggc	3	10	17	11	1	0	1	0	1	0	1	2	2	2	1	4	5	3	2	4	5	0	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:111580924G>T	ENST00000368847.4	+	1	374	c.21G>T	c.(19-21)ctG>ctT	p.L7L	RP11-428F8.2_ENST00000425364.1_RNA	NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	7					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		CCTCCTTCCTGGGGCTGGTGA	0.642																																																	0													47	39	42					6																	111580924		2203	4299	6502	SO:0001819	synonymous_variant	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.21G>T	6.37:g.111580924G>T			A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L7	ENST00000368847.4	37	c.21	CCDS5090.1	6																																																																																			KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.642	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	-	0	113	0	G	NM_153369		111580924	1	tier1	-	no_errors	ENST00000368847	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	T	T	111580924	G	T	111580924	2	4	39	1	0	0	0	0	0	0	0	1	8289	1335	47	3		3	KIAA1919	6	111580924	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	9733735	111580924	59534143	117	9431											
ZUFSP	221302	genome.wustl.edu	37	chr6	116987880	116987880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcctctatttttccaCagaatggacattcaggagga	10	13	9	9	0	2	1	1	0	1	1	4	4	4	4	2	3	1	1	2	3	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:116987880C>G	ENST00000368576.3	-	2	719	c.476G>C	c.(475-477)tGt>tCt	p.C159S	ZUFSP_ENST00000368573.1_Missense_Mutation_p.C159S|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	159							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TATTTTTCCACAGAATGGACA	0.368																																																	0													117	106	110					6																	116987880		2203	4300	6503	SO:0001583	missense	0			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"Zinc fingers, C2H2-type"	21224	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 113"	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.476G>C	6.37:g.116987880C>G	ENSP00000357565:p.Cys159Ser		Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C159S	ENST00000368576.3	37	c.476	CCDS5110.1	6	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564542	0.65651	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.59906	0.29;0.23	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	M	0.66939	2.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.73065	-0.4100	10	0.87932	D	0	-14.3381	17.4446	0.87574	0.0:1.0:0.0:0.0	.	159	Q96AP4	ZUFSP_HUMAN	S	159	ENSP00000357565:C159S;ENSP00000357562:C159S	ENSP00000357562:C159S	C	-	2	0	ZUFSP	117094573	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	4.178000	0.58284	2.705000	0.92388	0.655000	0.94253	TGT	ZUFSP	-	smart_Znf_C2H2-like	ENSG00000153975		0.368	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZUFSP	HGNC	protein_coding	OTTHUMT00000041961.1	-	0	39	0	C	NM_145062		116987880	-1	tier1	-	no_errors	ENST00000368576	ensembl	human	known	74_37	missense	30.99	49	22	SNP	1.000	G	G	116987880	C	G	116987880	3	3	39	1	0	0	0	0	1	0	0	0	18294	478	17	5	1296	5	ZUFSP	6	116987880	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5406956	116987880	54127187	118	9432											
KIAA0408	9729	genome.wustl.edu	37	chr6	127767686	127767686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccaccactgacatcaGaattacatttggtccaatta	13	11	6	11	0	1	2	1	1	0	1	2	2	2	2	3	2	1	1	3	2	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:127767686G>T	ENST00000483725.3	-	5	2114	c.1778C>A	c.(1777-1779)tCt>tAt	p.S593Y	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	593										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTGACATCAGAATTACATTT	0.433																																																	0													144	133	137					6																	127767686		2203	4300	6503	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1778C>A	6.37:g.127767686G>T	ENSP00000435150:p.Ser593Tyr		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.S593Y	ENST00000483725.3	37	c.1778	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860549	0.32884	.	.	ENSG00000189367	ENST00000483725	T	0.23754	1.89	5.23	1.98	0.26296	.	0.000000	0.37178	U	0.002202	T	0.12646	0.0307	L	0.59436	1.845	0.09310	N	1	P	0.45078	0.85	P	0.46718	0.525	T	0.11616	-1.0580	10	0.72032	D	0.01	-6.1778	2.769	0.05328	0.2812:0.1323:0.4674:0.1191	.	593	Q6ZU52	K0408_HUMAN	Y	593	ENSP00000435150:S593Y	ENSP00000435150:S593Y	S	-	2	0	KIAA0408	127809379	0.215000	0.23574	0.871000	0.34182	0.538000	0.34931	0.363000	0.20301	0.492000	0.27815	-0.345000	0.07892	TCT	KIAA0408	-	NULL	ENSG00000189367		0.433	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	-	0	24	0	G	NM_014702		127767686	-1	tier1	-	no_errors	ENST00000483725	ensembl	human	novel	74_37	missense	51.92	24	27	SNP	0.001	T	T	127767686	G	T	127767686	3	4	39	1	0	0	0	0	1	0	0	0	8201	942	33	3	314	3	KIAA0408	6	127767686	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10779806	127767686	43347381	119	9433											
PHACTR2	9749	genome.wustl.edu	37	chr6	144110003	144110003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggattctcctgactatgacCgccgagcagacaagccctgg	9	7	11	14	3	1	3	0	2	1	1	2	5	1	4	4	2	2	1	4	2	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:144110003C>T	ENST00000427704.2	+	11	1898	c.1768C>T	c.(1768-1770)Cgc>Tgc	p.R590C	PHACTR2_ENST00000305766.6_Missense_Mutation_p.R510C|PHACTR2_ENST00000440869.2_Missense_Mutation_p.R601C|PHACTR2_ENST00000367584.4_Missense_Mutation_p.R578C|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R521C	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	590							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGACTATGACCGCCGAGCAGA	0.507																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0													71	71	71					6																	144110003		1965	4146	6111	SO:0001583	missense	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1768C>T	6.37:g.144110003C>T	ENSP00000391763:p.Arg590Cys		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.R601C	ENST00000427704.2	37	c.1801	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861059	0.91433	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.66460	-0.21;0.18;-0.12;0.16;-0.14	5.8	4.93	0.64822	.	0.101073	0.64402	D	0.000002	D	0.83797	0.5332	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.995	D	0.89037	0.3446	10	0.87932	D	0	.	16.4611	0.84055	0.1319:0.8681:0.0:0.0	.	601;510;521;590	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	C	578;590;510;601;521	ENSP00000356556:R578C;ENSP00000391763:R590C;ENSP00000305530:R510C;ENSP00000417038:R601C;ENSP00000356554:R521C	ENSP00000305530:R510C	R	+	1	0	PHACTR2	144151696	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.920000	0.63390	1.422000	0.47177	0.650000	0.86243	CGC	PHACTR2	-	NULL	ENSG00000112419		0.507	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2	-	0	48	0	C	NM_014721		144110003	1	tier1	-	no_errors	ENST00000440869	ensembl	human	known	74_37	missense	43.59	22	17	SNP	1.000	T	T	144110003	C	T	144110003	3	4	39	1	0	0	0	0	1	0	0	0	11849	652	23	1	1860	1	PHACTR2	6	144110003	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	16342317	144110003	27005064	120	9434											
UTRN	7402	genome.wustl.edu	37	chr6	145124230	145124230	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagttgtttcttttcgggtCgaacagcaaaaggtcacaaa	13	11	10	7	2	2	1	1	0	1	1	4	2	2	1	0	2	2	3	0	2	4	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:145124230C>T	ENST00000367545.3	+	64	9304	c.9304C>T	c.(9304-9306)Cga>Tga	p.R3102*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.R657*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3102	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTTTCGGGTCGAACAGCAAA	0.343																																																	0													114	109	110					6																	145124230		2203	4300	6503	SO:0001587	stop_gained	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9304C>T	6.37:g.145124230C>T	ENSP00000356515:p.Arg3102*		Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R3102*	ENST00000367545.3	37	c.9304	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.709222	0.96821	.	.	ENSG00000152818	ENST00000367545;ENST00000367526;ENST00000545166;ENST00000432686;ENST00000417142;ENST00000455022	.	.	.	5.63	4.74	0.60224	.	0.000000	0.40469	N	0.001084	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3047	0.60345	0.2969:0.7031:0.0:0.0	.	.	.	.	X	3102;657;61;61;61;27	.	ENSP00000356496:R657X	R	+	1	2	UTRN	145165923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.820000	0.55693	1.327000	0.45338	0.655000	0.94253	CGA	UTRN	-	pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_Znf_ZZ	ENSG00000152818		0.343	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0	44	0	C			145124230	1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	nonsense	48.45	50	47	SNP	1.000	T	T	145124230	C	T	145124230	4	4	39	1	0	0	0	0	0	1	0	0	17152	876	31	1	9558	1	UTRN	6	145124230	Nonsense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1014227	145124230	25990837	121	9435											
SYNE1	23345	genome.wustl.edu	37	chr6	152680459	152680459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgccgtaccttggccctCtcttggatggctctgtatcg	3	15	10	13	2	2	0	0	0	2	0	4	1	2	1	3	3	2	3	3	3	2	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:152680459C>G	ENST00000367255.5	-	65	11035	c.10434G>C	c.(10432-10434)gaG>gaC	p.E3478D	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3478D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3485D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3485D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3478					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTTGGCCCTCTCTTGGATGG	0.483										HNSCC(10;0.0054)																																							0													226	198	207					6																	152680459		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10434G>C	6.37:g.152680459C>G	ENSP00000356224:p.Glu3478Asp		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E3478D	ENST00000367255.5	37	c.10434	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	5.990	0.366517	0.11352	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.54479	0.64;1.32;0.57;1.32	5.06	0.434	0.16539	.	0.328337	0.25578	N	0.029716	T	0.09992	0.0245	N	0.02802	-0.49	0.80722	D	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.10450	0.003;0.003;0.003;0.005	T	0.20107	-1.0285	10	0.10111	T	0.7	.	13.3824	0.60775	0.0:0.3568:0.5687:0.0745	.	3478;3478;3478;3485	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	3478;3485;3478;3485	ENSP00000356224:E3478D;ENSP00000396024:E3485D;ENSP00000265368:E3478D;ENSP00000390975:E3485D	ENSP00000265368:E3478D	E	-	3	2	SYNE1	152722152	0.602000	0.26916	0.993000	0.49108	0.250000	0.25880	0.044000	0.13992	0.203000	0.20529	-0.182000	0.12963	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.483	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	78	0	C	NM_182961		152680459	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.88	96	6	SNP	0.993	G	G	152680459	C	G	152680459	3	3	39	1	0	0	0	0	1	0	0	0	15492	912	32	5	16360	5	SYNE1	6	152680459	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	7556229	152680459	18434608	122	9436											
SYNE1	23345	genome.wustl.edu	37	chr6	152751308	152751308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatattttaattggaacaGcaagtttatcttcaaattca	16	15	4	6	0	3	0	2	0	1	0	3	1	3	1	0	1	3	2	0	1	7	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:152751308G>A	ENST00000367255.5	-	36	5328	c.4727C>T	c.(4726-4728)gCt>gTt	p.A1576V	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1576V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1646V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1576V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1583V|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1583V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1576					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATTGGAACAGCAAGTTTATC	0.303										HNSCC(10;0.0054)																																							0													56	53	54					6																	152751308		2201	4291	6492	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4727C>T	6.37:g.152751308G>A	ENSP00000356224:p.Ala1576Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A1576V	ENST00000367255.5	37	c.4727	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189210	0.38707	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.97	2.87	0.33458	.	0.638247	0.14715	N	0.302686	T	0.24774	0.0601	L	0.43152	1.355	0.80722	D	1	P;B;P;B;B	0.45827	0.791;0.222;0.867;0.222;0.33	B;B;B;B;B	0.35971	0.154;0.058;0.215;0.058;0.124	T	0.04360	-1.0957	10	0.30854	T	0.27	.	12.563	0.56293	0.0:0.0995:0.633:0.2675	.	1559;1576;1576;1576;1583	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	V	1576;1583;1576;1583;1646;1576	ENSP00000356224:A1576V;ENSP00000396024:A1583V;ENSP00000265368:A1576V;ENSP00000390975:A1583V;ENSP00000341887:A1646V;ENSP00000356222:A1576V	ENSP00000265368:A1576V	A	-	2	0	SYNE1	152793001	0.767000	0.28508	1.000000	0.80357	0.997000	0.91878	0.475000	0.22164	0.811000	0.34303	0.650000	0.86243	GCT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.303	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	33	0	G	NM_182961		152751308	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.994	A	A	152751308	G	A	152751308	3	1	39	1	0	0	0	0	1	0	0	0	15492	971	34	3	22183	3	SYNE1	6	152751308	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	70849	152751308	18363759	123	9437											
MAP3K4	4216	genome.wustl.edu	37	chr6	161514016	161514016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcgtgtaccaggtgggcGactcaaggatttgattttct	7	16	11	7	2	2	1	1	1	1	0	3	3	2	2	1	3	1	1	1	3	2	6	rs369504568		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:161514016G>A	ENST00000392142.4	+	14	3424	c.3276G>A	c.(3274-3276)gcG>gcA	p.A1092A	MAP3K4_ENST00000348824.7_Silent_p.A1092A|MAP3K4_ENST00000366920.2_Silent_p.A1092A|MAP3K4_ENST00000366919.2_Silent_p.A1092A	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1092					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCAGGTGGGCGACTCAAGGAT	0.338																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	155	139	145		3276,3276	-5.8	1	6		145	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MAP3K4	NM_005922.2,NM_006724.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	1092/1609,1092/1559	161514016	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3276G>A	6.37:g.161514016G>A			A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A1092	ENST00000392142.4	37	c.3276	CCDS34565.1	6																																																																																			MAP3K4	-	NULL	ENSG00000085511		0.338	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0	57	0	G			161514016	1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	silent	46.00	54	46	SNP	1.000	A	A	161514016	G	A	161514016	2	1	39	1	0	0	0	0	0	0	0	1	9290	1045	37	1		1	MAP3K4	6	161514016	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8762708	161514016	9601051	124	9438											
TCP10	6953	genome.wustl.edu	37	chr6	167794750	167794750	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatatgactctggagtttTctgtgaatatcagcccacag	10	13	8	10	0	3	2	1	2	2	0	4	3	4	3	2	1	1	1	2	1	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:167794750T>G	ENST00000397829.4	-	3	305	c.138A>C	c.(136-138)agA>agC	p.R46S	TCP10_ENST00000476779.2_Missense_Mutation_p.R46S|TCP10_ENST00000366827.2_Missense_Mutation_p.R46S	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	73						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		TCTGGAGTTTTCTGTGAATAT	0.557																																																	0													4	4	4					6																	167794750		1356	3103	4459	SO:0001583	missense	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.138A>C	6.37:g.167794750T>G	ENSP00000380929:p.Arg46Ser		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.R46S	ENST00000397829.4	37	c.138	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486001	0.26686	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000476779;ENST00000485157	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	2.04	-4.08	0.03963	.	.	.	.	.	T	0.01940	0.0061	L	0.31926	0.97	0.09310	N	1	B;B	0.33103	0.397;0.187	B;B	0.28638	0.092;0.039	T	0.40478	-0.9561	9	0.15952	T	0.53	.	0.8389	0.01145	0.1527:0.1747:0.2914:0.3813	.	73;73	Q12799;Q12799-2	TCP10_HUMAN;.	S	46	ENSP00000355792:R46S;ENSP00000380929:R46S;ENSP00000427675:R46S;ENSP00000423829:R46S	ENSP00000355792:R46S	R	-	3	2	TCP10	167714740	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.508000	0.22692	-1.773000	0.01290	-0.760000	0.03462	AGA	TCP10	-	NULL	ENSG00000203690		0.557	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	-	0	32	0	T	NM_004610		167794750	-1	tier1	-	no_errors	ENST00000397829	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.000	G	G	167794750	T	G	167794750	3	3	39	1	0	0	0	0	1	0	0	0	15757	1780	62	4	866	4	TCP10	6	167794750	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	6280734	167794750	3320317	125	9439											
MLLT4	4301	genome.wustl.edu	37	chr6	168323558	168323558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaggttaattcctcaCacacgttcaccaggtacttg	9	14	7	11	1	2	0	2	0	0	0	3	0	3	0	2	2	2	4	2	2	2	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr6:168323558C>T	ENST00000447894.2	+	21	2910	c.2910C>T	c.(2908-2910)caC>caT	p.H970H	MLLT4_ENST00000400822.3_Silent_p.H969H|MLLT4_ENST00000351017.4_Silent_p.H977H|MLLT4_ENST00000344191.4_Silent_p.H970H|MLLT4_ENST00000392112.1_Silent_p.H954H|MLLT4_ENST00000392108.3_Silent_p.H970H|MLLT4_ENST00000366806.2_Silent_p.H970H			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	970					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TAATTCCTCACACACGTTCAC	0.388			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													172	159	164					6																	168323558		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2910C>T	6.37:g.168323558C>T			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.H970	ENST00000447894.2	37	c.2910		6																																																																																			MLLT4	-	NULL	ENSG00000130396		0.388	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	-	0	22	0	C	NM_005936		168323558	1	tier1	-	no_errors	ENST00000366806	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.272	T	T	168323558	C	T	168323558	2	4	39	1	0	0	0	0	0	0	0	1	9667	477	17	3		3	MLLT4	6	168323558	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	528808	168323558	2791509	126	9440											
IQCE	23288	genome.wustl.edu	37	chr7	2611943	2611943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagaggccacatctcaGgcgctctgccagcaacggtg	10	6	13	12	2	2	2	1	1	2	1	3	2	2	2	2	3	3	2	2	3	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:2611943G>A	ENST00000402050.2	+	5	561	c.377G>A	c.(376-378)aGg>aAg	p.R126K	IQCE_ENST00000325979.7_Missense_Mutation_p.R61K|IQCE_ENST00000438376.2_Missense_Mutation_p.R110K|IQCE_ENST00000404984.1_Missense_Mutation_p.R75K	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	126						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCACATCTCAGGCGCTCTGCC	0.617																																																	0													37	39	38					7																	2611943		2065	4217	6282	SO:0001583	missense	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.377G>A	7.37:g.2611943G>A	ENSP00000385597:p.Arg126Lys		Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R126K	ENST00000402050.2	37	c.377	CCDS43542.1	7	.	.	.	.	.	.	.	.	.	.	G	2.983	-0.209852	0.06140	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000415271;ENST00000438376;ENST00000325979;ENST00000423395;ENST00000422276	T;T;T;T;T;T	0.43294	3.26;3.26;0.95;3.26;3.26;3.26	3.99	3.99	0.46301	.	1.202990	0.05734	N	0.600074	T	0.55673	0.1935	L	0.48362	1.52	0.21256	N	0.999746	P;P;P;D;P;D	0.67145	0.92;0.92;0.94;0.972;0.92;0.996	B;B;P;P;B;D	0.76071	0.345;0.345;0.465;0.6;0.345;0.987	T	0.44757	-0.9307	10	0.10111	T	0.7	-20.0535	11.2104	0.48795	0.0:0.3127:0.6872:0.0	.	61;110;61;126;126;110	B4DXN1;B4DDX4;Q6IPM2-2;Q6IPM2;B3KRY4;Q6IPM2-4	.;.;.;IQCE_HUMAN;.;.	K	126;75;126;110;61;61;61	ENSP00000385597:R126K;ENSP00000385945:R75K;ENSP00000404643:R126K;ENSP00000396178:R110K;ENSP00000313772:R61K;ENSP00000413570:R61K	ENSP00000313772:R61K	R	+	2	0	IQCE	2578469	0.857000	0.29778	0.797000	0.32132	0.114000	0.19823	3.433000	0.52834	2.163000	0.67991	0.591000	0.81541	AGG	IQCE	-	NULL	ENSG00000106012		0.617	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0	49	0	G	NM_152558		2611943	1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	missense	30.77	17	8	SNP	0.592	A	A	2611943	G	A	2611943	3	1	39	1	0	0	0	0	1	0	0	0	7833	1000	35	3	395	3	IQCE	7	2611943	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		2611943	156526720	127	9441											
IQCE	23288	genome.wustl.edu	37	chr7	2625840	2625840	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgatttggttgttccAggcccctgggggagaagaag	8	9	15	9	1	0	2	0	0	0	2	2	4	2	2	4	4	0	2	4	4	2	3	rs373779920		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:2625840A>G	ENST00000402050.2	+	12	1008		c.e12-1		IQCE_ENST00000325979.7_Splice_Site|IQCE_ENST00000438376.2_Splice_Site|IQCE_ENST00000404984.1_Splice_Site	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E							mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TGGTTGTTCCAGGCCCCTGGG	0.547																																																	0								A	,	0,3902		0,0,1951	38	44	42		,	4.5	0.7	7		42	1,8267		0,1,4133	no	splice-3,splice-3	IQCE	NM_001100390.1,NM_152558.3	,	0,1,6084	GG,GA,AA		0.0121,0.0,0.0082	,	,	2625840	1,12169	1951	4134	6085	SO:0001630	splice_region_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.825-1A>G	7.37:g.2625840A>G			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Splice_Site	SNP	-	e12-2	ENST00000402050.2	37	c.825-2	CCDS43542.1	7	.	.	.	.	.	.	.	.	.	.	A	12.13	1.846320	0.32606	0.0	1.21E-4	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000427817	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4106	0.44291	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCE	2592366	0.997000	0.39634	0.712000	0.30502	0.020000	0.10135	2.734000	0.47368	2.026000	0.59711	0.533000	0.62120	.	IQCE	-	-	ENSG00000106012		0.547	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0	49	0	A	NM_152558	Intron	2625840	1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	splice_site	8.51	43	4	SNP	0.625	G	G	2625840	A	G	2625840	5	3	39	1	0	0	0	0	0	0	1	0	7833	202	7	4	869	4	IQCE	7	2625840	Splice_Site	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	13897	2625840	156512823	128	9442											
ISPD	729920	genome.wustl.edu	37	chr7	16255711	16255711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtaagatatgagaaGcccatataacaaaatatttc	16	11	8	6	0	0	2	0	1	0	2	1	3	0	2	1	1	2	1	1	1	8	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:16255711G>T	ENST00000407010.2	-	9	1230	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	ISPD-AS1_ENST00000579293.1_RNA|ISPD-AS1_ENST00000438573.1_RNA|ISPD_ENST00000399310.3_Missense_Mutation_p.L361I|ISPD-AS1_ENST00000582683.1_RNA|ISPD-AS1_ENST00000457112.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	411					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						GATATGAGAAGCCCATATAAC	0.323										Multiple Myeloma(15;0.18)																																							0													85	85	85					7																	16255711		1798	4058	5856	SO:0001583	missense	0			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1231C>A	7.37:g.16255711G>T	ENSP00000385478:p.Leu411Ile		A8MU35|H9KVB2	Missense_Mutation	SNP	pfam_IspD	p.L411I	ENST00000407010.2	37	c.1231		7	.	.	.	.	.	.	.	.	.	.	G	9.571	1.120978	0.20877	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.87256	-2.22;-2.23	5.07	3.19	0.36642	.	.	.	.	.	T	0.78175	0.4242	N	0.19112	0.55	0.27923	N	0.938173	B	0.21821	0.061	B	0.17433	0.018	T	0.65853	-0.6067	9	0.36615	T	0.2	-5.8477	12.1136	0.53854	0.0:0.3305:0.6695:0.0	.	411	A4D126	ISPD_HUMAN	I	411;361	ENSP00000385478:L411I;ENSP00000382249:L361I	ENSP00000382249:L361I	L	-	1	0	ISPD	16222236	0.999000	0.42202	0.076000	0.20297	0.894000	0.52154	3.275000	0.51639	0.590000	0.29694	0.650000	0.86243	CTT	ISPD	-	NULL	ENSG00000214960		0.323	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	HGNC	protein_coding	OTTHUMT00000326252.4	-	0	52	0	G	NM_001101426		16255711	-1	tier1	-	no_errors	ENST00000407010	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.858	T	T	16255711	G	T	16255711	3	4	39	1	0	0	0	0	1	0	0	0	7891	971	34	3	132	3	ISPD	7	16255711	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	13629871	16255711	142882952	129	9443											
DNAH11	8701	genome.wustl.edu	37	chr7	21788289	21788289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagagcttgtccaggctgGcagcttaccttcgtggcctt	6	11	12	12	1	0	1	0	0	0	1	2	1	1	1	3	3	4	5	3	3	1	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:21788289G>T	ENST00000409508.3	+	52	8633	c.8602G>T	c.(8602-8604)Gca>Tca	p.A2868S	DNAH11_ENST00000328843.6_Missense_Mutation_p.A2875S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2875	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCCAGGCTGGCAGCTTACCT	0.567									Kartagener syndrome																																								0													93	97	96					7																	21788289		2014	4180	6194	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8602G>T	7.37:g.21788289G>T	ENSP00000475939:p.Ala2868Ser		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2875S	ENST00000409508.3	37	c.8623		7	.	.	.	.	.	.	.	.	.	.	G	33	5.265864	0.95399	.	.	ENSG00000105877	ENST00000328843	T	0.40756	1.02	5.95	5.07	0.68467	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.046011	0.85682	D	0.000000	T	0.65375	0.2685	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68625	-0.5359	9	0.51188	T	0.08	.	14.8948	0.70636	0.0683:0.0:0.9317:0.0	.	2875	Q96DT5	DYH11_HUMAN	S	2875	ENSP00000330671:A2875S	ENSP00000330671:A2875S	A	+	1	0	DNAH11	21754814	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	9.728000	0.98792	1.516000	0.48900	0.650000	0.86243	GCA	DNAH11	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000105877		0.567	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	63	0	G	NM_003777		21788289	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	21788289	G	T	21788289	3	4	39	1	0	0	0	0	1	0	0	0	4613	1203	42	3	8830	3	DNAH11	7	21788289	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	5532578	21788289	137350374	130	9444											
HOXA2	3199	genome.wustl.edu	37	chr7	27140789	27140789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttgctcaaagagcgtcttCtcttcctcgtcctcctctac	5	14	6	16	2	4	1	1	0	3	1	9	1	7	1	3	0	3	2	3	0	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:27140789C>G	ENST00000222718.5	-	2	997	c.687G>C	c.(685-687)gaG>gaC	p.E229D	HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	229					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AGAGCGTCTTCTCTTCCTCGT	0.527																																																	0													118	106	110					7																	27140789		2203	4300	6503	SO:0001583	missense	0				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"Homeoboxes / ANTP class : HOXL subclass"	5103	protein-coding gene	gene with protein product		604685	"homeo box A2"	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.687G>C	7.37:g.27140789C>G	ENSP00000222718:p.Glu229Asp		A1L4K3|B2RMW3	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.E229D	ENST00000222718.5	37	c.687	CCDS5403.1	7	.	.	.	.	.	.	.	.	.	.	C	9.542	1.113548	0.20795	.	.	ENSG00000105996	ENST00000222718	T	0.09630	2.96	5.45	4.57	0.56435	.	0.000000	0.56097	D	0.000030	T	0.09247	0.0228	L	0.31926	0.97	0.43729	D	0.99621	B	0.09022	0.002	B	0.09377	0.004	T	0.15464	-1.0436	10	0.19147	T	0.46	.	13.8612	0.63561	0.0:0.9261:0.0:0.0739	.	229	O43364	HXA2_HUMAN	D	229	ENSP00000222718:E229D	ENSP00000222718:E229D	E	-	3	2	HOXA2	27107314	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.820000	0.69250	1.437000	0.47472	0.655000	0.94253	GAG	HOXA2	-	NULL	ENSG00000105996		0.527	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA2	HGNC	protein_coding	OTTHUMT00000358508.2		0	22	0	C			27140789	-1			no_errors	ENST00000222718	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	27140789	C	G	27140789	3	3	39	1	0	0	0	0	1	0	0	0	7319	912	32	5	447	5	HOXA2	7	27140789	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5352500	27140789	131997874	131	9445											
ERV3	2086	genome.wustl.edu	37	chr7	64453295	64453295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttagtcatgatgttccccGaccacgtagtgtgggtgcag	7	13	12	9	2	1	1	1	1	0	0	2	2	2	1	3	1	1	3	3	1	2	4	rs376520157		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:64453295G>A	ENST00000394323.2	-	2	610	c.110C>T	c.(109-111)tCg>tTg	p.S37L	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	37						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gatgttccccgaccacgtagt	0.478																																																	0								G	LEU/SER	0,3848		0,0,1924	96	92	93		110	0.1	0.8	7		93	1,8273		0,1,4136	no	missense	ERV3-1	NM_001007253.3	145	0,1,6060	AA,AG,GG		0.0121,0.0,0.0082	benign	37/605	64453295	1,12121	1924	4137	6061	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.110C>T	7.37:g.64453295G>A	ENSP00000391594:p.Ser37Leu			Missense_Mutation	SNP	NULL	p.S37L	ENST00000394323.2	37	c.110	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626307	0.28978	0.0	1.21E-4	ENSG00000213462	ENST00000394323	T	0.16457	2.34	0.109	0.109	0.14578	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.20703	N	0.999861	B	0.14012	0.009	B	0.01281	0.0	T	0.35400	-0.9790	8	0.34782	T	0.22	.	.	.	.	.	37	Q14264	ENR1_HUMAN	L	37	ENSP00000391594:S37L	ENSP00000391594:S37L	S	-	2	0	ERV3-1	64090730	0.776000	0.28616	0.785000	0.31869	0.789000	0.44602	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	TCG	ERV3-1	-	NULL	ENSG00000213462		0.478	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0	36	0	G	NM_001007253		64453295	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	missense	23.81	32	10	SNP	0.820	A	A	64453295	G	A	64453295	3	1	39	1	0	0	0	0	1	0	0	0	5261	1059	37	1	1708	1	ERV3	7	64453295	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	37312506	64453295	94685368	132	9446			1	11		3	3	53	N	G_C_A	1.627271e-07
ERV3	2086	genome.wustl.edu	37	chr7	64453327	64453327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgcagtggaggcatccCtcccagggttctccttttaa	6	12	12	11	0	1	0	0	0	1	0	4	1	3	1	3	4	1	3	3	4	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:64453327C>A	ENST00000394323.2	-	2	578	c.78G>T	c.(76-78)gaG>gaT	p.E26D	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	26						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ggaggcatccctcccagggtt	0.483																																																	0													68	67	67					7																	64453327		1895	4125	6020	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.78G>T	7.37:g.64453327C>A	ENSP00000391594:p.Glu26Asp			Missense_Mutation	SNP	NULL	p.E26D	ENST00000394323.2	37	c.78	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	13.10	2.135276	0.37728	.	.	ENSG00000213462	ENST00000394323	T	0.12361	2.69	0.109	0.109	0.14578	.	.	.	.	.	T	0.07369	0.0186	N	0.08118	0	0.19775	N	0.999957	.	.	.	.	.	.	T	0.36407	-0.9749	6	0.87932	D	0	.	.	.	.	.	26	Q14264	ENR1_HUMAN	D	26	ENSP00000391594:E26D	ENSP00000391594:E26D	E	-	3	2	ERV3-1	64090762	0.953000	0.32496	0.885000	0.34714	0.888000	0.51559	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	GAG	ERV3-1	-	NULL	ENSG00000213462		0.483	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0	36	0	C	NM_001007253		64453327	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.908	A	A	64453327	C	A	64453327	3	1	39	1	0	0	0	0	1	0	0	0	5261	680	24	3	1740	3	ERV3	7	64453327	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	32	64453327	94685336	133	9447			1	11		3	3	53	N	G_C_A	1.627271e-07
ERV3	2086	genome.wustl.edu	37	chr7	64453347	64453347	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcccagggttctccttttaAcatggataaggggagtagca	10	11	11	9	0	1	0	0	0	1	0	3	2	2	2	2	4	2	3	2	4	3	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:64453347A>C	ENST00000394323.2	-	2	558	c.58T>G	c.(58-60)Tta>Gta	p.L20V	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	20						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tctccttttaacatggataag	0.478																																																	0													54	52	52					7																	64453347		1876	4122	5998	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3"	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.58T>G	7.37:g.64453347A>C	ENSP00000391594:p.Leu20Val			Missense_Mutation	SNP	NULL	p.L20V	ENST00000394323.2	37	c.58	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	11.61	1.689724	0.29962	.	.	ENSG00000213462	ENST00000394323	T	0.12569	2.67	0.109	0.109	0.14578	.	.	.	.	.	T	0.07234	0.0183	N	0.08118	0	0.18873	N	0.999988	.	.	.	.	.	.	T	0.36089	-0.9762	6	0.87932	D	0	.	.	.	.	.	20	Q14264	ENR1_HUMAN	V	20	ENSP00000391594:L20V	ENSP00000391594:L20V	L	-	1	2	ERV3-1	64090782	0.956000	0.32656	0.863000	0.33907	0.865000	0.49528	0.222000	0.17699	0.156000	0.19299	0.155000	0.16302	TTA	ERV3-1	-	NULL	ENSG00000213462		0.478	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	-	0	30	0	A	NM_001007253		64453347	-1	tier1	-	no_errors	ENST00000394323	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.889	C	C	64453347	A	C	64453347	3	2	39	1	0	0	0	0	1	0	0	0	5261	40	2	4	1760	4	ERV3	7	64453347	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	20	64453347	94685316	134	9448			1	11		3	3	53	N	G_C_A	1.627271e-07
SEMA3A	10371	genome.wustl.edu	37	chr7	83591086	83591086	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcctgaatccttctgttgTagactacgtagcagaaggcc	9	12	10	10	1	1	3	0	1	1	2	2	3	2	3	3	1	3	4	3	1	5	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:83591086T>C	ENST00000265362.4	-	17	2231	c.1917A>G	c.(1915-1917)ctA>ctG	p.L639L	SEMA3A_ENST00000436949.1_Silent_p.L639L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	639	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCTTCTGTTGTAGACTACGTA	0.403																																																	0													78	69	72					7																	83591086		2203	4299	6502	SO:0001819	synonymous_variant	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1917A>G	7.37:g.83591086T>C				Silent	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.L639	ENST00000265362.4	37	c.1917	CCDS5599.1	7																																																																																			SEMA3A	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000075213		0.403	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	35	0	T	NM_006080		83591086	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	silent	38.78	30	19	SNP	0.001	C	C	83591086	T	C	83591086	2	2	39	1	0	0	0	0	0	0	0	1	14069	1625	57	4		4	SEMA3A	7	83591086	Silent	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	19137739	83591086	75547577	135	9449											
FZD1	8321	genome.wustl.edu	37	chr7	90895863	90895863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcatcgcctgctacttCtacgagcaggccttccggga	7	10	10	14	4	2	0	1	0	1	0	5	2	3	1	3	2	4	2	3	2	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:90895863C>A	ENST00000287934.2	+	1	2081	c.1668C>A	c.(1666-1668)ttC>ttA	p.F556L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	556					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTGCTACTTCTACGAGCAGG	0.632																																																	0													74	59	64					7																	90895863		2203	4300	6503	SO:0001583	missense	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1668C>A	7.37:g.90895863C>A	ENSP00000287934:p.Phe556Leu		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F556L	ENST00000287934.2	37	c.1668	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317131	0.60524	.	.	ENSG00000157240	ENST00000287934	T	0.81415	-1.49	5.03	3.07	0.35406	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000002	T	0.75561	0.3866	L	0.42581	1.335	0.53005	D	0.999965	P	0.39022	0.655	P	0.47015	0.534	T	0.69687	-0.5078	10	0.27082	T	0.32	.	6.6994	0.23217	0.0:0.7004:0.0:0.2996	.	556	Q9UP38	FZD1_HUMAN	L	556	ENSP00000287934:F556L	ENSP00000287934:F556L	F	+	3	2	FZD1	90733799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.237000	0.32695	1.341000	0.45600	0.655000	0.94253	TTC	FZD1	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000157240		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	-	0	42	0	C	NM_003505		90895863	1	tier1	-	no_errors	ENST00000287934	ensembl	human	known	74_37	missense	34.62	17	9	SNP	1.000	A	A	90895863	C	A	90895863	3	1	39	1	0	0	0	0	1	0	0	0	6152	912	32	3	1670	3	FZD1	7	90895863	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	7304777	90895863	68242800	136	9450											
EPHB4	2050	genome.wustl.edu	37	chr7	100417397	100417397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtcggcactcccggcagCggagggcgtaggtgaggtcc	5	5	19	12	5	0	1	0	1	0	0	3	2	2	2	2	7	1	3	2	7	1	1	rs202006098	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:100417397C>T	ENST00000358173.3	-	6	1547	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.R360H|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	360	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTCCCGGCAGCGGAGGGCGTA	0.711													C|||	3	0.000599042	0	0	5008	,	,		14363	0		0.003	False		,,,				2504	0				GBM(200;2113 3072 25865 52728)												0								C	HIS/ARG	0,4354		0,0,2177	8	10	9		1079	5.5	1	7		9	2,8502		0,2,4250	yes	missense	EPHB4	NM_004444.4	29	0,2,6427	TT,TC,CC		0.0235,0.0,0.0156	probably-damaging	360/988	100417397	2,12856	2177	4252	6429	SO:0001583	missense	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3395	protein-coding gene	gene with protein product		600011	"EphB4"	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1079G>A	7.37:g.100417397C>T	ENSP00000350896:p.Arg360His		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R360H	ENST00000358173.3	37	c.1079	CCDS5706.1	7	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	14.94	2.684030	0.47991	0.0	2.35E-4	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.58210	0.35;0.35	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000073	T	0.50154	0.1599	L	0.36672	1.1	0.34470	D	0.70273	D;D;D;D	0.76494	0.998;0.999;0.995;0.998	P;D;P;P	0.66602	0.903;0.945;0.862;0.899	T	0.64364	-0.6425	10	0.39692	T	0.17	.	10.2669	0.43460	0.0:0.9097:0.0:0.0903	.	360;360;360;360	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	H	360	ENSP00000353833:R360H;ENSP00000350896:R360H	ENSP00000350896:R360H	R	-	2	0	EPHB4	100255333	1.000000	0.71417	0.993000	0.49108	0.097000	0.18754	2.132000	0.42083	2.563000	0.86464	0.655000	0.94253	CGC	EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196411		0.711	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1		0	69	0	C	NM_004444		100417397	-1			no_errors	ENST00000358173	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.941	T	T	100417397	C	T	100417397	3	4	39	1	0	0	0	0	1	0	0	0	5193	768	27	1	1932	1	EPHB4	7	100417397	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	9521534	100417397	58721266	137	9451											
RELN	5649	genome.wustl.edu	37	chr7	103175830	103175830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtctgacaccaggatccGttgcagatgatagcgactgc	10	9	12	10	2	1	3	0	2	1	1	2	5	2	4	2	1	3	2	2	1	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:103175830G>A	ENST00000428762.1	-	46	7441	c.7282C>T	c.(7282-7284)Cgg>Tgg	p.R2428W	RELN_ENST00000343529.5_Missense_Mutation_p.R2428W|RELN_ENST00000424685.2_Missense_Mutation_p.R2428W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2428					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R2428W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCAGGATCCGTTGCAGATGA	0.458																																					NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - Missense(1)	kidney(1)											175	134	147					7																	103175830		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7282C>T	7.37:g.103175830G>A	ENSP00000392423:p.Arg2428Trp		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.R2428W	ENST00000428762.1	37	c.7282	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821598	0.71028	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22539	1.95;1.95;1.95	5.57	2.32	0.28847	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	L	0.54323	1.7	0.49915	D	0.99983	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.951	T	0.33163	-0.9879	10	0.87932	D	0	.	14.2227	0.65839	0.0:0.0:0.3047:0.6953	.	2428;2428	P78509-2;P78509	.;RELN_HUMAN	W	2428	ENSP00000392423:R2428W;ENSP00000345694:R2428W;ENSP00000388446:R2428W	ENSP00000345694:R2428W	R	-	1	2	RELN	102963066	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.032000	0.41127	0.662000	0.31006	0.655000	0.94253	CGG	RELN	-	superfamily_Sialidases	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1		0	39	0	G	NM_005045		103175830	-1			no_errors	ENST00000424685	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	103175830	G	A	103175830	3	1	39	1	0	0	0	0	1	0	0	0	13265	1144	40	1	3180	1	RELN	7	103175830	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2758433	103175830	55962833	138	9452											
HBP1	26959	genome.wustl.edu	37	chr7	106829747	106829747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattttcagggctatggttCtgatggtctaaagttgttat	9	18	10	4	0	3	1	1	1	2	0	3	1	3	1	0	3	0	4	0	3	5	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:106829747C>T	ENST00000222574.4	+	7	962	c.776C>T	c.(775-777)tCt>tTt	p.S259F	HBP1_ENST00000485846.1_Missense_Mutation_p.S259F|HBP1_ENST00000461963.1_Intron|HBP1_ENST00000468410.1_Missense_Mutation_p.S259F	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	259	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GGCTATGGTTCTGATGGTCTA	0.363																																																	0													181	155	164					7																	106829747		2203	4300	6503	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.776C>T	7.37:g.106829747C>T	ENSP00000222574:p.Ser259Phe		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.S259F	ENST00000222574.4	37	c.776	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602519	0.87157	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99277	-5.67;-5.67;-5.67	5.94	5.94	0.96194	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.000000	0.85682	D	0.000000	D	0.99408	0.9791	M	0.77820	2.39	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.74348	0.983;0.963;0.978	D	0.99486	1.0949	10	0.87932	D	0	-5.4957	20.3736	0.98901	0.0:1.0:0.0:0.0	.	269;259;259	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	F	259;259;259;251	ENSP00000420500:S259F;ENSP00000222574:S259F;ENSP00000418738:S259F	ENSP00000222574:S259F	S	+	2	0	HBP1	106616983	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.862000	0.69560	2.820000	0.97059	0.650000	0.86243	TCT	HBP1	-	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	ENSG00000105856		0.363	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0	57	0	C	NM_012257		106829747	1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	T	T	106829747	C	T	106829747	3	4	39	1	0	0	0	0	1	0	0	0	7012	913	32	3	798	3	HBP1	7	106829747	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	3653917	106829747	52308916	139	9453											
CFTR	1080	genome.wustl.edu	37	chr7	117246747	117246747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggattcttaatagattCtccaaagatatagcaatttt	13	15	8	5	0	2	2	0	0	2	2	3	3	2	3	1	2	1	1	1	2	6	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:117246747C>A	ENST00000003084.6	+	18	3060	c.2928C>A	c.(2926-2928)ttC>ttA	p.F976L	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.F915L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	976	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTAATAGATTCTCCAAAGATA	0.284									Cystic Fibrosis																																								0													134	140	138					7																	117246747		2203	4294	6497	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2928C>A	7.37:g.117246747C>A	ENSP00000003084:p.Phe976Leu		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.F976L	ENST00000003084.6	37	c.2928	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993228	0.74703	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.86097	-2.07;-2.07;-2.07	5.4	4.46	0.54185	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.90546	0.7037	M	0.86953	2.85	0.58432	D	0.999999	P	0.47191	0.891	P	0.55303	0.773	D	0.91062	0.4886	10	0.87932	D	0	-19.7035	9.7224	0.40311	0.0:0.8313:0.0:0.1687	.	976	P13569	CFTR_HUMAN	L	976;915;946	ENSP00000003084:F976L;ENSP00000403677:F915L;ENSP00000389119:F946L	ENSP00000003084:F976L	F	+	3	2	CFTR	117033983	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	0.502000	0.22594	1.290000	0.44636	0.650000	0.86243	TTC	CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel	ENSG00000001626		0.284	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	-	0	39	0	C	NM_000492		117246747	1	tier1	-	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	36.51	40	23	SNP	1.000	A	A	117246747	C	A	117246747	3	1	39	1	0	0	0	0	1	0	0	0	3301	912	32	3	2998	3	CFTR	7	117246747	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	10417000	117246747	41891916	140	9454											
PAX4	5078	genome.wustl.edu	37	chr7	127251730	127251730	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcacactgccaggggactGctaaaaaaaaaaagcaagag	18	3	12	8	0	0	1	0	0	0	1	0	2	0	2	1	3	3	3	1	3	7	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:127251730G>T	ENST00000341640.2	-	8	953	c.748C>A	c.(748-750)Cag>Aag	p.Q250K	PAX4_ENST00000338516.3_Splice_Site_p.A239E|PAX4_ENST00000378740.2_Splice_Site_p.Q250K|PAX4_ENST00000463946.1_Splice_Site_p.Q248K	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	258					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGGGGACTGCTAAAAAAAA	0.572																																					Ovarian(113;737 1605 7858 27720 34092)												0													39	44	43					7																	127251730		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.748-1C>A	7.37:g.127251730G>T			O95161|Q6B0H0	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.Q250K	ENST00000341640.2	37	c.748	CCDS5797.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.194|8.194	0.796601|0.796601	0.16327|0.16327	.|.	.|.	ENSG00000106331|ENSG00000106331	ENST00000338516|ENST00000341640;ENST00000378740;ENST00000463946	D|D;D	0.93906|0.93712	-3.31|-3.27;-3.13	5.38|5.38	2.51|2.51	0.30379|0.30379	.|.	.|0.587296	.|0.14612	.|N	.|0.308955	D|D	0.89438|0.89438	0.6715|0.6715	L|L	0.55990|0.55990	1.75|1.75	0.20196|0.20196	N|N	0.999924|0.999924	.|B;B;B	.|0.30236	.|0.274;0.085;0.217	.|B;B;B	.|0.31946	.|0.069;0.023;0.138	T|T	0.78224|0.78224	-0.2287|-0.2287	7|10	0.29301|0.29301	T|T	0.29|0.29	.|.	6.3356|6.3356	0.21294|0.21294	0.0859:0.0:0.5874:0.3267|0.0859:0.0:0.5874:0.3267	.|.	.|250;258;248	.|O43316-4;O43316;G3V4Q1	.|.;PAX4_HUMAN;.	E|K	239|250;258;248	ENSP00000344297:A239E|ENSP00000339906:Q250K;ENSP00000451923:Q248K	ENSP00000344297:A239E|ENSP00000339906:Q250K	A|Q	-|-	2|1	0|0	PAX4|PAX4	127038966|127038966	0.997000|0.997000	0.39634|0.39634	0.226000|0.226000	0.23910|0.23910	0.178000|0.178000	0.23041|0.23041	2.876000|2.876000	0.48498|0.48498	0.313000|0.313000	0.23062|0.23062	-0.181000|-0.181000	0.13052|0.13052	GCA|CAG	PAX4	-	NULL	ENSG00000106331		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	-	0	22	0	G		Missense_Mutation	127251730	-1	tier1	-	no_errors	ENST00000341640	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.791	T	T	127251730	G	T	127251730	5	4	39	1	0	0	0	0	0	0	1	0	11520	1333	46	3	291	3	PAX4	7	127251730	Splice_Site	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10004983	127251730	31886933	141	9455											
FLNC	2318	genome.wustl.edu	37	chr7	128491646	128491646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgcgcttcgatgacaagCacatcccggggagccccttc	7	8	11	15	4	0	1	0	1	0	0	4	3	1	2	3	2	3	2	3	2	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:128491646C>A	ENST00000325888.8	+	35	6067	c.5806C>A	c.(5806-5808)Cac>Aac	p.H1936N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H1903N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1936					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGATGACAAGCACATCCCGGG	0.572																																																	0													82	89	87					7																	128491646		2203	4300	6503	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5806C>A	7.37:g.128491646C>A	ENSP00000327145:p.His1936Asn		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.H1936N	ENST00000325888.8	37	c.5806	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925153	0.92319	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.86030	-2.06;-2.06	5.7	5.7	0.88788	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.051747	0.85682	D	0.000000	D	0.92593	0.7647	M	0.79258	2.445	0.58432	D	0.999999	P;D	0.57257	0.503;0.979	P;D	0.68621	0.586;0.959	D	0.92860	0.6305	10	0.87932	D	0	.	19.8471	0.96713	0.0:1.0:0.0:0.0	.	1903;1936	Q14315-2;Q14315	.;FLNC_HUMAN	N	1936;1903	ENSP00000327145:H1936N;ENSP00000344002:H1903N	ENSP00000327145:H1936N	H	+	1	0	FLNC	128278882	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.978000	0.70501	2.688000	0.91661	0.655000	0.94253	CAC	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.572	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	42	0	C			128491646	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A	A	128491646	C	A	128491646	3	1	39	1	0	0	0	0	1	0	0	0	5957	710	25	3	5944	3	FLNC	7	128491646	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1239916	128491646	30647017	142	9456											
PTN	5764	genome.wustl.edu	37	chr7	136936052	136936052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcattcggcattgtgcaGggctcgcttcagacttccag	6	11	12	12	2	1	1	1	0	0	1	4	1	2	1	1	3	1	5	1	3	0	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:136936052G>T	ENST00000348225.2	-	4	803	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	PTN_ENST00000393083.2_Missense_Mutation_p.L126M	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	126					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCATTGTGCAGGGCTCGCTTC	0.527																																																	0													302	275	284					7																	136936052		2203	4300	6503	SO:0001583	missense	0			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"Endogenous ligands"	9630	protein-coding gene	gene with protein product	"heparin binding growth factor 8"	162095	"neurite growth-promoting factor 1"	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.376C>A	7.37:g.136936052G>T	ENSP00000341170:p.Leu126Met		Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	p.L126M	ENST00000348225.2	37	c.376	CCDS5844.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156970	0.78114	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	6.02	6.02	0.97574	Midkine heparin-binding growth factor, C-terminal (2);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.058403	0.64402	D	0.000002	T	0.75889	0.3911	M	0.64997	1.995	0.51233	D	0.999915	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.977	T	0.76132	-0.3071	9	0.59425	D	0.04	-11.4516	13.6966	0.62582	0.07:0.0:0.93:0.0	.	126;126	C9JR52;P21246	.;PTN_HUMAN	M	126	.	ENSP00000341170:L126M	L	-	1	2	PTN	136586592	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.583000	0.74053	2.857000	0.98124	0.650000	0.86243	CTG	PTN	-	pfam_PTN/MK_C_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	ENSG00000105894		0.527	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTN	HGNC	protein_coding	OTTHUMT00000341339.1	-	0	55	0	G	NM_002825		136936052	-1	tier1	-	no_errors	ENST00000348225	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	T	T	136936052	G	T	136936052	3	4	39	1	0	0	0	0	1	0	0	0	12811	991	35	3	138	3	PTN	7	136936052	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8444406	136936052	22202611	143	9457											
ZNF775	285971	genome.wustl.edu	37	chr7	150093755	150093755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatggggcggcctcgagcCctggggggacaggaggagtc	7	4	19	11	2	0	0	0	0	0	0	2	4	0	3	3	8	1	0	3	8	0	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:150093755C>T	ENST00000329630.5	+	3	293	c.186C>T	c.(184-186)gcC>gcT	p.A62A		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	62					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCTCGAGCCCTGGGGGGAC	0.711																																																	0													10	14	13					7																	150093755		1935	4126	6061	SO:0001819	synonymous_variant	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.186C>T	7.37:g.150093755C>T			Q8IY24	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A62	ENST00000329630.5	37	c.186	CCDS43678.1	7																																																																																			ZNF775	-	NULL	ENSG00000196456		0.711	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1		0	27	0	C	NM_173680		150093755	1			no_errors	ENST00000329630	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.002	T	T	150093755	C	T	150093755	2	4	39	1	0	0	0	0	0	0	0	1	18196	610	22	3		3	ZNF775	7	150093755	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	13157703	150093755	9044908	144	9458											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760267	154760269	+	In_Frame_Del	DEL	CTG	CTG	-																															ggcgctgtctgactttgcatCtgctgctgctgctgctgctg																								rs141168451		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr7:154760267_154760269delCTG	ENST00000404141.1	-	7	1796_1798	c.1642_1644delCAG	c.(1642-1644)cagdel	p.Q548del	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_In_Frame_Del_p.Q548del			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	548	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GACTTTGCATctgctgctgctgc	0.626																																																	0										135,3467		9,117,1675						-0.6	0		dbSNP_134	18	258,6344		17,224,3060	no	coding	PAXIP1	NM_007349.3		26,341,4735	A1A1,A1R,RR		3.9079,3.7479,3.8514				393,9811				SO:0001651	inframe_deletion	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1642_1644delCAG	7.37:g.154760276_154760278delCTG	ENSP00000384048:p.Gln548del		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	In_Frame_Del	DEL	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q548in_frame_del	ENST00000404141.1	37	c.1644_1642	CCDS47753.1	7																																																																																			PAXIP1	-	NULL	ENSG00000157212		0.626	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0	57	0	CTG	NM_007349		154760269	-1	tier1		no_errors	ENST00000397192	ensembl	human	known	74_37	in_frame_del	10.34	26	3	DEL	0.709:0.971:0.997	-	-	154760269	CTG	-	154760267	7	5	39	1	0	1	0	1	0	0	0	0	11526	912	32	0	1625	0	PAXIP1	7	154760267	In_Frame_Del	DEL	CTG	TCGA-JY-A6FG-01A-11D-A33E-09	4666512	154760267	4378396	145	9459											
ADRA1A	148	genome.wustl.edu	37	chr8	26721736	26721736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcgtcttggtcttggCgctggccatcccgctgcctc	3	11	13	14	3	2	0	0	0	2	0	4	1	3	0	3	3	2	2	3	3	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:26721736C>T	ENST00000519229.1	-	1	757	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	ADRA1A_ENST00000380586.1_Missense_Mutation_p.A251T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A251T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A251T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A251T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A251T|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A251T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A251T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A251T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A251T			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	324					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TTGGTCTTGGCGCTGGCCATC	0.617																																																	0													53	49	50					8																	26721736		2203	4300	6503	SO:0001583	missense	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.751G>A	8.37:g.26721736C>T	ENSP00000430793:p.Ala251Thr		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.A251T	ENST00000519229.1	37	c.751		8	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.351800	0.01256	.	.	ENSG00000120907	ENST00000380586;ENST00000380587;ENST00000380582;ENST00000380581;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573;ENST00000380572;ENST00000358857	D;D;D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.27	-5.74	0.02391	GPCR, rhodopsin-like superfamily (1);	1.052500	0.07340	N	0.880631	T	0.64670	0.2619	N	0.16656	0.425	0.09310	N	0.999996	B;B;B;B;B;B	0.23854	0.092;0.02;0.037;0.03;0.013;0.001	B;B;B;B;B;B	0.15484	0.013;0.013;0.009;0.005;0.001;0.005	T	0.53844	-0.8381	10	0.11182	T	0.66	.	4.01	0.09618	0.53:0.2078:0.0728:0.1894	.	251;251;251;251;251;251	P35348-9;P35348-8;P35348;P35348-4;P35348-3;B0ZBD3	.;.;ADA1A_HUMAN;.;.;.	T	251	ENSP00000369960:A251T;ENSP00000369961:A251T;ENSP00000369956:A251T;ENSP00000369955:A251T;ENSP00000430793:A251T;ENSP00000346557:A251T;ENSP00000276393:A251T;ENSP00000369947:A251T;ENSP00000369946:A251T;ENSP00000351725:A251T	ENSP00000276393:A251T	A	-	1	0	ADRA1A	26777653	0.026000	0.19158	0.197000	0.23402	0.232000	0.25224	-0.361000	0.07612	-1.097000	0.03042	-1.119000	0.02030	GCC	ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt	ENSG00000120907		0.617	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1		0	69	0	C	NM_033303		26721736	-1			no_errors	ENST00000380586	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.048	T	T	26721736	C	T	26721736	3	4	39	1	0	0	0	0	1	0	0	0	334	768	27	1	948	1	ADRA1A	8	26721736	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		26721736	119642286	146	9460											
PXDNL	137902	genome.wustl.edu	37	chr8	52366270	52366270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggtgtgggtggcctgtgGccatacattccaaagttgtg	7	11	16	7	0	0	0	0	0	0	0	1	1	1	0	3	4	1	1	3	4	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:52366270G>T	ENST00000356297.4	-	10	1158	c.1058C>A	c.(1057-1059)gCc>gAc	p.A353D	PXDNL_ENST00000543296.1_Missense_Mutation_p.A353D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	353	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGGCCTGTGGCCATACATTC	0.507																																																	0													118	117	117					8																	52366270		1999	4161	6160	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1058C>A	8.37:g.52366270G>T	ENSP00000348645:p.Ala353Asp		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.A353D	ENST00000356297.4	37	c.1058	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962271	0.53400	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69306	-0.39;-0.39	4.14	4.14	0.48551	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85695	0.5756	H	0.95470	3.675	0.32287	N	0.566858	D	0.67145	0.996	D	0.73380	0.98	D	0.89472	0.3744	9	0.87932	D	0	.	11.9364	0.52876	0.0:0.0:1.0:0.0	.	353	A1KZ92	PXDNL_HUMAN	D	353	ENSP00000348645:A353D;ENSP00000444865:A353D	ENSP00000348645:A353D	A	-	2	0	PXDNL	52528823	1.000000	0.71417	0.065000	0.19835	0.256000	0.26092	2.899000	0.48679	1.850000	0.53721	0.591000	0.81541	GCC	PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000147485		0.507	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	46	0	G	NM_144651		52366270	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	30.00	42	18	SNP	1.000	T	T	52366270	G	T	52366270	3	4	39	1	0	0	0	0	1	0	0	0	12893	1203	42	3	3389	3	PXDNL	8	52366270	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	25644534	52366270	93997752	147	9461											
ASPH	444	genome.wustl.edu	37	chr8	62577903	62577903	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctttgtctcgggatgcCattttactagaaacatcctt	9	16	6	10	1	3	1	1	0	2	1	5	2	4	2	2	1	3	0	2	1	3	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:62577903C>T	ENST00000379454.4	-	4	510				ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000389204.4_Missense_Mutation_p.M195I|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000522603.1_Missense_Mutation_p.M180I|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000445642.3_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ctcgggatgccattttactag	0.363																																																	0													245	219	228					8																	62577903		2203	4300	6503	SO:0001627	intron_variant	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"junctin", "humbug", "junctate"	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.323-11684G>A	8.37:g.62577903C>T			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.M195I	ENST00000379454.4	37	c.585	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	4.613	0.113912	0.08831	.	.	ENSG00000198363	ENST00000389204;ENST00000522603	T;T	0.55052	0.54;0.54	4.6	1.82	0.25136	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.20940	-1.0260	8	0.33141	T	0.24	.	7.9506	0.30012	0.0:0.73:0.0:0.27	.	180;195	Q12797-4;Q12797-3	.;.	I	195;180	ENSP00000373856:M195I;ENSP00000436188:M180I	ENSP00000373856:M195I	M	-	3	0	ASPH	62740457	0.001000	0.12720	0.000000	0.03702	0.695000	0.40330	0.972000	0.29409	0.261000	0.21753	-0.136000	0.14681	ATG	ASPH	-	pfam_Asp-B-hydro/Triadin_dom	ENSG00000198363		0.363	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	-	0	32	0	C	NM_004318		62577903	-1	tier1	-	no_errors	ENST00000389204	ensembl	human	known	74_37	missense	29.17	51	21	SNP	0.000	T	T	62577903	C	T	62577903	1	4	39	0	1	0	0	0	0	0	0	0	1054	594	21	3		3	ASPH	8	62577903	Intron	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	10211633	62577903	83786119	148	9462											
NCOA2	10499	genome.wustl.edu	37	chr8	71075774	71075774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcatgggaactcttcttGccacgcaaatcaagcaggac	11	9	8	13	1	4	0	2	0	2	0	4	2	4	2	2	2	3	2	2	2	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:71075774G>T	ENST00000452400.2	-	8	939	c.758C>A	c.(757-759)gCa>gAa	p.A253E		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	253					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACTCTTCTTGCCACGCAAAT	0.398			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													92	87	89					8																	71075774		1900	4118	6018	SO:0001583	missense	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.758C>A	8.37:g.71075774G>T	ENSP00000399968:p.Ala253Glu		Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.A253E	ENST00000452400.2	37	c.758	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.072463	0.93950	.	.	ENSG00000140396	ENST00000452400	T	0.02446	4.29	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00567	-1.1667	10	0.87932	D	0	.	15.6596	0.77174	0.0652:0.0:0.9348:0.0	.	253	Q15596	NCOA2_HUMAN	E	253	ENSP00000399968:A253E	ENSP00000399968:A253E	A	-	2	0	NCOA2	71238328	1.000000	0.71417	0.930000	0.37139	0.991000	0.79684	8.004000	0.88535	1.636000	0.50526	0.655000	0.94253	GCA	NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.398	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	-	0	59	0	G			71075774	-1	tier1	-	no_errors	ENST00000452400	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	71075774	G	T	71075774	3	4	39	1	0	0	0	0	1	0	0	0	10268	1319	46	3	3700	3	NCOA2	8	71075774	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8497871	71075774	75288248	149	9463											
JPH1	56704	genome.wustl.edu	37	chr8	75171619	75171619	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaaaggagcactgttttaCctggttggtagaaatcaggt	12	12	11	6	0	2	1	2	0	0	1	2	2	2	2	1	4	2	4	1	4	4	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:75171619C>T	ENST00000342232.4	-	3	1299		c.e3+1			NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1						calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CACTGTTTTACCTGGTTGGTA	0.557																																																	0													66	69	68					8																	75171619		2203	4300	6503	SO:0001630	splice_region_variant	0			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1258+1G>A	8.37:g.75171619C>T			B2RTZ0	Splice_Site	SNP	-	e3+1	ENST00000342232.4	37	c.1258+1	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354086	0.82243	.	.	ENSG00000104369	ENST00000342232	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7907	0.88551	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	JPH1	75334173	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.390000	0.73204	2.809000	0.96659	0.655000	0.94253	.	JPH1	-	-	ENSG00000104369		0.557	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	-	0	39	0	C		Intron	75171619	-1	tier1	-	no_errors	ENST00000342232	ensembl	human	known	74_37	splice_site	37.50	10	6	SNP	1.000	T	T	75171619	C	T	75171619	5	4	39	1	0	0	0	0	0	0	1	0	7987	521	18	3	738	3	JPH1	8	75171619	Splice_Site	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	4095845	75171619	71192403	150	9464											
LRRCC1	85444	genome.wustl.edu	37	chr8	86019616	86019616	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggggatgtatgcttcaTggacaaaggcttgcagaggt	9	10	15	7	1	1	1	1	0	0	1	1	3	1	3	0	5	3	4	0	5	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:86019616T>G	ENST00000360375.3	+	1	235	c.86T>G	c.(85-87)aTg>aGg	p.M29R	LRRCC1_ENST00000414626.2_5'Flank	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	29					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTATGCTTCATGGACAAAGGC	0.682																																																	0													34	50	45					8																	86019616		1963	4142	6105	SO:0001583	missense	0			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.86T>G	8.37:g.86019616T>G	ENSP00000353538:p.Met29Arg		B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.M29R	ENST00000360375.3	37	c.86	CCDS43750.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.98|13.98	2.399734|2.399734	0.42512|0.42512	.|.	.|.	ENSG00000133739|ENSG00000133739	ENST00000360375|ENST00000426019	T|.	0.29917|.	1.55|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.186554|.	0.26304|.	N|.	0.025157|.	T|T	0.32376|0.32376	0.0827|0.0827	N|N	0.04063|0.04063	-0.285|-0.285	0.80722|0.80722	D|D	1|1	P|P	0.46706|0.51791	0.883|0.948	B|P	0.34779|0.52514	0.189|0.701	T|T	0.05468|0.05468	-1.0883|-1.0883	10|8	0.62326|0.14252	D|T	0.03|0.57	-6.3419|-6.3419	10.412|10.412	0.44299|0.44299	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	29|5	Q9C099|E9PE41	LRCC1_HUMAN|.	R|G	29|5	ENSP00000353538:M29R|.	ENSP00000353538:M29R|ENSP00000400370:W5G	M|W	+|+	2|1	0|0	LRRCC1|LRRCC1	86206868|86206868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	3.779000|3.779000	0.55379|0.55379	2.235000|2.235000	0.73313|0.73313	0.459000|0.459000	0.35465|0.35465	ATG|TGG	LRRCC1	-	NULL	ENSG00000133739		0.682	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	-	0	85	0	T	NM_033402		86019616	1	tier1	-	no_errors	ENST00000360375	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	G	G	86019616	T	G	86019616	3	3	39	1	0	0	0	0	1	0	0	0	9061	1464	51	4	88	4	LRRCC1	8	86019616	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	10847997	86019616	60344406	151	9465											
E2F5	1875	genome.wustl.edu	37	chr8	86119673	86119673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggtgatacacttttGgccattcaggcaccttctgg	8	12	10	11	0	2	2	1	2	1	0	2	2	2	2	3	4	1	1	3	4	1	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:86119673G>A	ENST00000416274.2	+	5	598	c.564G>A	c.(562-564)ttG>ttA	p.L188L	E2F5_ENST00000521429.1_Silent_p.L15L|E2F5_ENST00000256117.5_Silent_p.L189L|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Silent_p.L27L|E2F5_ENST00000418930.2_Silent_p.L188L	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	188	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATACACTTTTGGCCATTCAGG	0.373																																																	0													43	43	43					8																	86119673		1813	4069	5882	SO:0001819	synonymous_variant	0			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.564G>A	8.37:g.86119673G>A			E9PBN9|Q16601|Q92756	Silent	SNP	pfam_E2F_TDP	p.L189	ENST00000416274.2	37	c.567	CCDS47885.1	8																																																																																			E2F5	-	NULL	ENSG00000133740		0.373	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	-	0	44	0	G	NM_001951		86119673	1	tier1	-	no_errors	ENST00000256117	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.998	A	A	86119673	G	A	86119673	2	1	39	1	0	0	0	0	0	0	0	1	4884	1339	47	3		3	E2F5	8	86119673	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	100057	86119673	60244349	152	9466											
RGS22	26166	genome.wustl.edu	37	chr8	101074951	101074951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaatctccattgctcactAgatagcattttttcatcttc	10	17	4	10	0	4	1	2	0	2	1	6	1	4	1	1	0	2	3	1	0	3	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:101074951A>G	ENST00000360863.6	-	9	1576	c.1382T>C	c.(1381-1383)cTa>cCa	p.L461P	RGS22_ENST00000523287.1_Missense_Mutation_p.L280P|RGS22_ENST00000523437.1_Missense_Mutation_p.L449P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	461					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATTGCTCACTAGATAGCATTT	0.313																																																	0													77	72	73					8																	101074951		1820	4071	5891	SO:0001583	missense	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"Regulators of G-protein signaling"	24499	protein-coding gene	gene with protein product		615650	"regulator of G-protein signalling 22"				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1382T>C	8.37:g.101074951A>G	ENSP00000354109:p.Leu461Pro		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.L461P	ENST00000360863.6	37	c.1382	CCDS43758.1	8	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833135	0.71258	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.72167	-0.63;-0.63;-0.63	4.99	4.99	0.66335	Regulator of G protein signalling superfamily (1);	0.117668	0.34200	N	0.004179	D	0.82907	0.5139	M	0.72894	2.215	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.85303	0.1074	10	0.87932	D	0	.	14.9912	0.71390	1.0:0.0:0.0:0.0	.	449;461;280	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	P	461;449;280;449	ENSP00000354109:L461P;ENSP00000429382:L280P;ENSP00000428212:L449P	ENSP00000354109:L461P	L	-	2	0	RGS22	101144127	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	6.572000	0.74005	1.987000	0.57996	0.528000	0.53228	CTA	RGS22	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000132554		0.313	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	-	0	11	0	A	NM_015668		101074951	-1	tier1	-	no_errors	ENST00000360863	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	G	G	101074951	A	G	101074951	3	3	39	1	0	0	0	0	1	0	0	0	13350	420	15	4	2488	4	RGS22	8	101074951	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	14955278	101074951	45289071	153	9467											
FZD6	8323	genome.wustl.edu	37	chr8	104341947	104341947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcttaaagcacaattctAaagttaaacacaaaaagaag	20	11	4	6	0	2	1	0	0	2	1	2	1	2	1	0	0	2	2	0	0	10	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:104341947A>G	ENST00000358755.4	+	6	1923	c.1606A>G	c.(1606-1608)Aaa>Gaa	p.K536E	FZD6_ENST00000523739.1_Missense_Mutation_p.K504E|FZD6_ENST00000540287.1_Missense_Mutation_p.K231E|FZD6_ENST00000522566.1_Missense_Mutation_p.K536E	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	536					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCACAATTCTAAAGTTAAACA	0.368																																																	0													55	54	54					8																	104341947		2203	4300	6503	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.1606A>G	8.37:g.104341947A>G	ENSP00000351605:p.Lys536Glu		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.K536E	ENST00000358755.4	37	c.1606	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212250	0.58452	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.76578	-1.0;-1.0;-1.03;-1.0	5.4	5.4	0.78164	.	0.318212	0.36665	N	0.002475	T	0.66499	0.2795	L	0.32530	0.975	0.37040	D	0.897105	P;P;P	0.41848	0.651;0.763;0.501	B;B;B	0.39119	0.058;0.291;0.058	T	0.68070	-0.5506	10	0.08381	T	0.77	.	15.7249	0.77747	1.0:0.0:0.0:0.0	.	481;231;536	B4E236;F5H831;O60353	.;.;FZD6_HUMAN	E	536;536;504;231;481	ENSP00000429055:K536E;ENSP00000351605:K536E;ENSP00000429528:K504E;ENSP00000443757:K231E	ENSP00000351605:K536E	K	+	1	0	FZD6	104411123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.268000	0.65536	2.177000	0.69029	0.459000	0.35465	AAA	FZD6	-	NULL	ENSG00000164930		0.368	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	-	0	29	0	A	NM_003506		104341947	1	tier1	-	no_errors	ENST00000358755	ensembl	human	known	74_37	missense	19.01	98	23	SNP	1.000	G	G	104341947	A	G	104341947	3	3	39	1	0	0	0	0	1	0	0	0	6158	363	13	4	1624	4	FZD6	8	104341947	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	3266996	104341947	42022075	154	9468											
CSMD3	114788	genome.wustl.edu	37	chr8	113516192	113516192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagaggaagtcatagtttGgttctatgctaaaactgaaa	15	13	9	4	0	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	8	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:113516192G>C	ENST00000297405.5	-	30	5154	c.4910C>G	c.(4909-4911)cCa>cGa	p.P1637R	CSMD3_ENST00000352409.3_Missense_Mutation_p.P1637R|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1597R|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1533R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1637	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCATAGTTTGGTTCTATGCT	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													93	88	90					8																	113516192		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4910C>G	8.37:g.113516192G>C	ENSP00000297405:p.Pro1637Arg		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P1637R	ENST00000297405.5	37	c.4910	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117451	0.77323	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	4.96	4.96	0.65561	CUB (5);	0.000000	0.64402	D	0.000001	T	0.37073	0.0990	L	0.49256	1.55	0.44976	D	0.997995	D;D;D	0.67145	0.975;0.98;0.996	P;D;D	0.72625	0.894;0.936;0.978	T	0.02610	-1.1134	10	0.42905	T	0.14	.	18.378	0.90441	0.0:0.0:1.0:0.0	.	1533;1637;1597	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	1597;1637;977;1533;1637	ENSP00000345799:P1597R;ENSP00000297405:P1637R;ENSP00000341558:P977R;ENSP00000412263:P1533R;ENSP00000343124:P1637R	ENSP00000297405:P1637R	P	-	2	0	CSMD3	113585368	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.387000	0.97232	2.560000	0.86352	0.557000	0.71058	CCA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	18	0	G	NM_052900		113516192	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	12.50	63	9	SNP	1.000	C	C	113516192	G	C	113516192	3	2	39	1	0	0	0	0	1	0	0	0	3955	1348	47	5	6381	5	CSMD3	8	113516192	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	9174245	113516192	32847830	155	9469											
CSMD3	114788	genome.wustl.edu	37	chr8	113529308	113529308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagaagtaccgattttctaCctgaatgcaggttattcttt	10	15	7	9	1	2	2	0	1	2	1	2	3	2	2	3	1	3	3	3	1	5	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:113529308C>T	ENST00000297405.5	-	28	4955	c.4711G>A	c.(4711-4713)Gta>Ata	p.V1571I	CSMD3_ENST00000352409.3_Missense_Mutation_p.V1571I|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1531I|CSMD3_ENST00000455883.2_Missense_Mutation_p.V1467I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1571	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGATTTTCTACCTGAATGCAG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													142	133	136					8																	113529308		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4711G>A	8.37:g.113529308C>T	ENSP00000297405:p.Val1571Ile		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V1571I	ENST00000297405.5	37	c.4711	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372382	0.24857	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	4.88	3.99	0.46301	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000004	T	0.25158	0.0611	N	0.04820	-0.15	0.25447	N	0.988046	D;D;P	0.55172	0.963;0.97;0.606	P;P;B	0.59487	0.778;0.858;0.352	T	0.20107	-1.0285	10	0.36615	T	0.2	.	14.5563	0.68103	0.1475:0.8525:0.0:0.0	.	1467;1571;1531	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1531;1571;911;1467;1571	ENSP00000345799:V1531I;ENSP00000297405:V1571I;ENSP00000341558:V911I;ENSP00000412263:V1467I;ENSP00000343124:V1571I	ENSP00000297405:V1571I	V	-	1	0	CSMD3	113598484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.990000	0.49401	1.249000	0.43950	0.585000	0.79938	GTA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	92	0	C	NM_052900		113529308	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	20.25	130	33	SNP	1.000	T	T	113529308	C	T	113529308	3	4	39	1	0	0	0	0	1	0	0	0	3955	507	18	3	6588	3	CSMD3	8	113529308	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	13116	113529308	32834714	156	9470											
UTP23	84294	genome.wustl.edu	37	chr8	117778864	117778864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcacaaggcagaaaCatgccaagaagcatcttggc	16	6	10	9	0	2	4	1	1	1	3	2	4	2	4	1	2	3	2	1	2	5	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:117778864C>T	ENST00000309822.2	+	1	123	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	UTP23_ENST00000357148.3_Missense_Mutation_p.H8Y|UTP23_ENST00000517820.1_Missense_Mutation_p.H8Y|EIF3H_ENST00000276682.4_5'Flank	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	8					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						AAGGCAGAAACATGCCAAGAA	0.607											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50	48	49					8																	117778864		2203	4300	6503	SO:0001583	missense	0				CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 53"	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.22C>T	8.37:g.117778864C>T	ENSP00000308332:p.His8Tyr	1483	B2RE25|Q96NJ8	Missense_Mutation	SNP	pfam_Fcf1/Utp23	p.H8Y	ENST00000309822.2	37	c.22	CCDS6320.1	8	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918334	0.92249	.	.	ENSG00000147679	ENST00000309822;ENST00000357148;ENST00000517814;ENST00000517820	T	0.22336	1.96	5.45	5.45	0.79879	.	0.092655	0.85682	D	0.000000	T	0.29524	0.0736	L	0.50333	1.59	0.80722	D	1	D	0.54601	0.967	P	0.46629	0.522	T	0.01316	-1.1387	10	0.54805	T	0.06	-26.9539	19.4672	0.94948	0.0:1.0:0.0:0.0	.	8	Q9BRU9	UTP23_HUMAN	Y	8	ENSP00000308332:H8Y	ENSP00000308332:H8Y	H	+	1	0	UTP23	117848045	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.975000	0.76128	2.833000	0.97629	0.585000	0.79938	CAT	UTP23	-	NULL	ENSG00000147679		0.607	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP23	HGNC	protein_coding	OTTHUMT00000381173.1	-	0	50	0	C	NM_032334		117778864	1	tier1	-	no_errors	ENST00000309822	ensembl	human	known	74_37	missense	12.96	47	7	SNP	1.000	T	T	117778864	C	T	117778864	3	4	39	1	0	0	0	0	1	0	0	0	17149	478	17	3	24	3	UTP23	8	117778864	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	4249556	117778864	28585158	157	9471											
DEPDC6	64798	genome.wustl.edu	37	chr8	120977610	120977610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaggaaagaggcagagcaGctttgccaccggcttatgga	12	6	14	9	2	0	2	0	0	0	2	0	5	0	4	2	4	3	4	2	4	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:120977610G>T	ENST00000286234.5	+	4	694	c.564G>T	c.(562-564)caG>caT	p.Q188H	DEPTOR_ENST00000523492.1_Missense_Mutation_p.Q87H	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	188	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						AGGCAGAGCAGCTTTGCCACC	0.547																																																	0													114	92	99					8																	120977610		2203	4300	6503	SO:0001583	missense	0				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.564G>T	8.37:g.120977610G>T	ENSP00000286234:p.Gln188His		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ	p.Q188H	ENST00000286234.5	37	c.564	CCDS6331.1	8	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570748	0.45798	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.21932	1.98;1.98	5.31	2.09	0.27110	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.053581	0.85682	D	0.000000	T	0.30039	0.0752	L	0.38953	1.18	0.58432	D	0.999999	D;D	0.69078	0.997;0.973	D;P	0.64595	0.927;0.747	T	0.01409	-1.1362	10	0.45353	T	0.12	-29.5009	10.7729	0.46334	0.2989:0.0:0.7011:0.0	.	87;188	E7EV87;Q8TB45	.;DPTOR_HUMAN	H	87;188	ENSP00000430457:Q87H;ENSP00000286234:Q188H	ENSP00000286234:Q188H	Q	+	3	2	DEPTOR	121046791	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	2.597000	0.46214	0.632000	0.30432	0.655000	0.94253	CAG	DEPTOR	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000155792		0.547	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPTOR	HGNC	protein_coding	OTTHUMT00000381601.1		0	17	0	G	NM_022783		120977610	1			no_errors	ENST00000286234	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	T	T	120977610	G	T	120977610	3	4	39	1	0	0	0	0	1	0	0	0	4457	962	34	3	578	3	DEPDC6	8	120977610	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	3198746	120977610	25386412	158	9472											
WDR67	93594	genome.wustl.edu	37	chr8	124140537	124140537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtttttttttcaccatcGgaataacctggatataaatg	13	15	6	7	1	1	0	1	0	0	0	2	2	1	2	2	2	1	1	2	2	5	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:124140537G>A	ENST00000287380.1	+	14	1991	c.1901G>A	c.(1900-1902)cGg>cAg	p.R634Q	TBC1D31_ENST00000327098.5_Missense_Mutation_p.R634Q|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000378080.2_Missense_Mutation_p.R529Q|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R529Q|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R634Q|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R511Q	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	634						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTCACCATCGGAATAACCTG	0.323																																																	0													98	95	96					8																	124140537		2203	4300	6503	SO:0001583	missense	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1901G>A	8.37:g.124140537G>A	ENSP00000287380:p.Arg634Gln		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.R634Q	ENST00000287380.1	37	c.1901	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614876	0.87359	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.73	5.73	0.89815	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.28599	0.0708	L	0.45581	1.43	0.80722	D	1	P;P;D	0.60160	0.888;0.882;0.987	B;P;P	0.46585	0.28;0.471;0.521	T	0.00740	-1.1586	10	0.46703	T	0.11	-24.4139	19.8939	0.96942	0.0:0.0:1.0:0.0	.	634;634;634	B7ZL19;Q96DN5-2;Q96DN5	.;.;WDR67_HUMAN	Q	634;634;634;529;511;529	ENSP00000287380:R634Q;ENSP00000308358:R634Q;ENSP00000312701:R634Q;ENSP00000429334:R529Q;ENSP00000430628:R511Q;ENSP00000367320:R529Q	ENSP00000287380:R634Q	R	+	2	0	WDR67	124209718	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.416000	0.80143	2.706000	0.92434	0.585000	0.79938	CGG	TBC1D31	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000156787		0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1	-	0	18	0	G	NM_145647		124140537	1	tier1	-	no_errors	ENST00000287380	ensembl	human	known	74_37	missense	29.49	55	23	SNP	1.000	A	A	124140537	G	A	124140537	3	1	39	1	0	0	0	0	1	0	0	0	17367	1116	39	1	1955	1	WDR67	8	124140537	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	3162927	124140537	22223485	159	9473											
GPAA1	8733	genome.wustl.edu	37	chr8	145138344	145138344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggtcagtagggctggagGtctacacgcagagtttctcc	7	10	14	10	2	3	1	1	0	2	1	4	2	3	2	1	4	2	4	1	4	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:145138344G>A	ENST00000355091.4	+	3	428	c.307G>A	c.(307-309)Gtc>Atc	p.V103I	GPAA1_ENST00000361036.6_Missense_Mutation_p.V43I|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	103					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGGCTGGAGGTCTACACGCA	0.627																																																	0													60	64	62					8																	145138344		2023	4174	6197	SO:0001583	missense	0			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.307G>A	8.37:g.145138344G>A	ENSP00000347206:p.Val103Ile		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.V103I	ENST00000355091.4	37	c.307	CCDS43776.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.332563	0.95733	.	.	ENSG00000197858	ENST00000355091;ENST00000361036;ENST00000524418;ENST00000530258	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.72894	2.215	0.58432	D	0.999999	D;D	0.67145	0.993;0.996	P;D	0.77557	0.708;0.99	T	0.77493	-0.2567	9	0.42905	T	0.14	-42.2124	16.3831	0.83481	0.0:0.0:1.0:0.0	.	103;43	O43292;O43292-2	GPAA1_HUMAN;.	I	103;43;103;54	.	ENSP00000347206:V103I	V	+	1	0	GPAA1	145210332	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.901000	0.75693	2.462000	0.83206	0.561000	0.74099	GTC	GPAA1	-	pirsf_GPI_prot_transamidse_cplx_GAA1	ENSG00000197858		0.627	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1	-	0	110	0	G	NM_003801		145138344	1	tier1	-	no_errors	ENST00000355091	ensembl	human	known	74_37	missense	15.20	105	19	SNP	1.000	A	A	145138344	G	A	145138344	3	1	39	1	0	0	0	0	1	0	0	0	6613	1261	44	3	317	3	GPAA1	8	145138344	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	20997807	145138344	1225678	160	9474											
ZNF251	90987	genome.wustl.edu	37	chr8	145947949	145947949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtgaattctctcatgctGaataaggctggagcttcgac	10	12	11	8	1	2	2	1	2	1	0	4	4	2	3	0	2	2	3	0	2	3	3	rs552920738		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr8:145947949G>C	ENST00000292562.7	-	5	1371	c.1096C>G	c.(1096-1098)Cag>Gag	p.Q366E	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTCTCATGCTGAATAAGGCTG	0.507																																																	0													78	87	84					8																	145947949		2192	4298	6490	SO:0001583	missense	0			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1096C>G	8.37:g.145947949G>C	ENSP00000292562:p.Gln366Glu		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q366E	ENST00000292562.7	37	c.1096	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214340	0.09810	.	.	ENSG00000198169	ENST00000292562	T	0.16324	2.35	3.0	2.1	0.27182	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	N	0.01771	-0.73	0.09310	N	1	B	0.25850	0.136	B	0.20955	0.032	T	0.42224	-0.9464	9	0.02654	T	1	-10.6375	3.5509	0.07845	0.1351:0.0:0.4658:0.3991	.	366	Q9BRH9	ZN251_HUMAN	E	366	ENSP00000292562:Q366E	ENSP00000292562:Q366E	Q	-	1	0	ZNF251	145918758	0.000000	0.05858	0.991000	0.47740	0.988000	0.76386	-0.605000	0.05661	1.667000	0.50832	0.563000	0.77884	CAG	ZNF251	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198169		0.507	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	-	0	28	0	G	NM_138367		145947949	-1	tier1	-	no_errors	ENST00000292562	ensembl	human	known	74_37	missense	12.63	82	12	SNP	0.000	C	C	145947949	G	C	145947949	3	2	39	1	0	0	0	0	1	0	0	0	17844	1299	45	5	923	5	ZNF251	8	145947949	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	809605	145947949	416073	161	9475											
GDA	9615	genome.wustl.edu	37	chr9	74825650	74825650	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttgttactttgcaacAattcacactgactcatctct	11	14	4	12	0	3	1	2	1	1	0	4	1	3	1	0	0	4	3	0	0	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr9:74825650A>G	ENST00000358399.3	+	4	525	c.432A>G	c.(430-432)acA>acG	p.T144T	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Silent_p.T102T|GDA_ENST00000376989.3_Silent_p.T119T|GDA_ENST00000238018.4_Silent_p.T144T|GDA_ENST00000545168.1_Silent_p.T70T	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	144					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACTTTGCAACAATTCACACTG	0.438																																																	0													168	126	140					9																	74825650		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.432A>G	9.37:g.74825650A>G			B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.T144	ENST00000358399.3	37	c.432	CCDS6641.1	9																																																																																			GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	ENSG00000119125		0.438	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	-	0	22	0	A			74825650	1	tier1	-	no_errors	ENST00000238018	ensembl	human	known	74_37	silent	30.00	28	12	SNP	1.000	G	G	74825650	A	G	74825650	2	3	39	1	0	0	0	0	0	0	0	1	6331	117	5	4		4	GDA	9	74825650	Silent	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09		74825650	66387781	162	9476											
TRPM6	140803	genome.wustl.edu	37	chr9	77397639	77397639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtatatcatccagtatGgctcaaatacaatatctcga	13	12	5	11	2	3	0	2	0	1	0	6	1	5	0	2	1	1	3	2	1	7	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr9:77397639G>T	ENST00000360774.1	-	22	3287	c.3050C>A	c.(3049-3051)cCa>cAa	p.P1017Q	TRPM6_ENST00000449912.2_Missense_Mutation_p.P1012Q|TRPM6_ENST00000361255.3_Missense_Mutation_p.P1012Q|TRPM6_ENST00000451710.3_Missense_Mutation_p.P1017Q|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.P1017Q|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1017					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATCCAGTATGGCTCAAATAC	0.453																																																	0			GRCh37	CM071116	TRPM6	M							143	122	129					9																	77397639		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3050C>A	9.37:g.77397639G>T	ENSP00000354006:p.Pro1017Gln		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.P1017Q	ENST00000360774.1	37	c.3050	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483014	0.84747	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.62498	0.09;0.08;0.09;0.09;0.02	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.86075	0.5846	H	0.94385	3.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.88879	0.3338	10	0.87932	D	0	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	680;1017;1012	F5H7D1;Q9BX84;Q9BX84-3	.;TRPM6_HUMAN;.	Q	1017;1017;1012;1012;1017;680;680	ENSP00000354006:P1017Q;ENSP00000407341:P1017Q;ENSP00000396672:P1012Q;ENSP00000354962:P1012Q;ENSP00000366060:P1017Q	ENSP00000309693:P680Q	P	-	2	0	TRPM6	76587459	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.808000	0.99193	2.813000	0.96785	0.561000	0.74099	CCA	TRPM6	-	pfam_Ion_trans_dom	ENSG00000119121		0.453	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1		0	23	0	G	NM_017662		77397639	-1			no_errors	ENST00000451710	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	77397639	G	T	77397639	3	4	39	1	0	0	0	0	1	0	0	0	16638	1348	47	3	3090	3	TRPM6	9	77397639	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2571989	77397639	63815792	163	9477											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100092636	100092636	+	Frame_Shift_Del	DEL	A	A	-																															aaccctcccagaagagagtgAaaaaactgaggaagaagcaa																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr9:100092636delA	ENST00000357054.1	+	32	3345	c.2410delA	c.(2410-2412)aaafs	p.K805fs	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Frame_Shift_Del_p.K663fs|CCDC180_ENST00000375202.2_Frame_Shift_Del_p.K666fs|CCDC180_ENST00000529487.1_Frame_Shift_Del_p.K666fs|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	805						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GAAGAGAGTGAAAAAACTGAG	0.463																																																	0													70	71	71					9																	100092636		2203	4300	6503	SO:0001589	frameshift_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2410delA	9.37:g.100092636delA	ENSP00000349562:p.Lys805fs		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Frame_Shift_Del	DEL	NULL	p.K666fs	ENST00000357054.1	37	c.1993		9																																																																																			CCDC180	-	NULL	ENSG00000197816		0.463	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding			0	42	0	A	NM_020893		100092636	1	tier1		no_errors	ENST00000375202	ensembl	human	known	74_37	frame_shift_del	39.53	26	17	DEL	0.001	-	-	100092636	A	-	100092636	7	5	39	1	0	1	0	1	0	0	0	0	8267	247	9	0	2492	0	KIAA1529	9	100092636	Frame_Shift_Del	DEL	A	TCGA-JY-A6FG-01A-11D-A33E-09	22694997	100092636	41120795	164	9478											
TGFBR1	7046	genome.wustl.edu	37	chr9	101907161	101907161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctccaaaccacagagtggGaacaaaaaggtatacttttg	15	9	9	8	0	0	1	0	0	0	1	1	2	1	2	2	2	4	2	2	2	6	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr9:101907161G>A	ENST00000374994.4	+	6	1238	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	TGFBR1_ENST00000550253.1_Missense_Mutation_p.G305E|RNA5SP290_ENST00000517133.1_RNA|TGFBR1_ENST00000552516.1_Missense_Mutation_p.G378E|TGFBR1_ENST00000374990.2_Missense_Mutation_p.G297E	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CACAGAGTGGGAACAAAAAGG	0.358																																																	0			GRCh37	CM064322	TGFBR1	M							92	85	87					9																	101907161		2203	4300	6503	SO:0001583	missense	0				CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"activin A receptor type II-like kinase, 53kDa"	190181	"transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)", "multiple self-healing squamous epithelioma"	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.1121G>A	9.37:g.101907161G>A	ENSP00000364133:p.Gly374Glu		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G374E	ENST00000374994.4	37	c.1121	CCDS6738.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992406	0.93167	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000550253	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.148056	0.64402	D	0.000010	D	0.91978	0.7459	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94280	0.7519	10	0.87932	D	0	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	297;374	P36897-3;P36897	.;TGFR1_HUMAN	E	374;336;297;378;305	ENSP00000364133:G374E;ENSP00000364129:G297E;ENSP00000447297:G378E;ENSP00000450052:G305E	ENSP00000364129:G297E	G	+	2	0	TGFBR1	100946982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.854000	0.98071	0.655000	0.94253	GGA	TGFBR1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000106799		0.358	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR1	HGNC	protein_coding	OTTHUMT00000053390.3	-	0	52	0	G			101907161	1	tier1	-	no_errors	ENST00000374994	ensembl	human	known	74_37	missense	33.87	41	21	SNP	1.000	A	A	101907161	G	A	101907161	3	1	39	1	0	0	0	0	1	0	0	0	15868	1174	41	3	1143	3	TGFBR1	9	101907161	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1814525	101907161	39306270	165	9479											
ST6GALNAC6	30815	genome.wustl.edu	37	chr9	130656797	130656797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgcgctaccttgttGccgagaatggggacatagcc	9	8	13	11	2	0	1	0	0	0	1	0	3	0	2	3	2	6	4	3	2	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr9:130656797G>T	ENST00000373146.1	-	4	470	c.291C>A	c.(289-291)ggC>ggA	p.G97G	ST6GALNAC6_ENST00000542456.1_Missense_Mutation_p.A33E|ST6GALNAC6_ENST00000373141.1_Silent_p.G63G|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373144.3_Silent_p.G63G|ST6GALNAC6_ENST00000291839.5_Silent_p.G97G|ST6GALNAC6_ENST00000373142.1_Silent_p.G97G			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	97					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTACCTTGTTGCCGAGAATGG	0.582																																																	0													85	82	83					9																	130656797		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.291C>A	9.37:g.130656797G>T			B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.A33E	ENST00000373146.1	37	c.98	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443118	0.43326	.	.	ENSG00000160408	ENST00000542456	T	0.44881	0.91	4.88	2.9	0.33743	.	.	.	.	.	T	0.49729	0.1574	.	.	.	0.22811	N	0.998704	P	0.44380	0.834	P	0.52856	0.711	T	0.35226	-0.9797	8	0.66056	D	0.02	-13.6651	7.636	0.28267	0.0947:0.1673:0.738:0.0	.	33	B4DU80	.	E	33	ENSP00000438109:A33E	ENSP00000438109:A33E	A	-	2	0	ST6GALNAC6	129696618	0.963000	0.33076	0.999000	0.59377	0.682000	0.39822	-0.052000	0.11865	1.052000	0.40392	0.555000	0.69702	GCA	ST6GALNAC6	-	NULL	ENSG00000160408		0.582	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	-	0	92	0	G	NM_013443		130656797	-1	tier1	-	no_errors	ENST00000542456	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	T	T	130656797	G	T	130656797	2	4	39	1	0	0	0	0	0	0	0	1	15275	1306	46	3		3	ST6GALNAC6	9	130656797	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	28749636	130656797	10556634	166	9480											
DNAJC1	64215	genome.wustl.edu	37	chr10	22193537	22193537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttagcataaaactgcccaGcatccttaagaaaaaaagtt	18	10	5	8	0	0	1	0	0	0	1	1	1	1	1	2	0	4	3	2	0	7	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:22193537G>T	ENST00000376980.3	-	7	1024	c.734C>A	c.(733-735)gCt>gAt	p.A245D		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	245					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AAACTGCCCAGCATCCTTAAG	0.274																																																	0													86	76	80					10																	22193537		2201	4288	6489	SO:0001583	missense	0			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.734C>A	10.37:g.22193537G>T	ENSP00000366179:p.Ala245Asp		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A245D	ENST00000376980.3	37	c.734	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860813	0.71834	.	.	ENSG00000136770	ENST00000376980	T	0.67865	-0.29	5.76	5.76	0.90799	.	0.107460	0.64402	D	0.000007	T	0.69043	0.3067	M	0.66939	2.045	0.80722	D	1	P	0.51653	0.947	P	0.44990	0.466	T	0.67313	-0.5702	10	0.26408	T	0.33	-5.3619	18.1465	0.89656	0.0:0.0:1.0:0.0	.	245	Q96KC8	DNJC1_HUMAN	D	245	ENSP00000366179:A245D	ENSP00000366179:A245D	A	-	2	0	DNAJC1	22233543	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.360000	0.73064	2.711000	0.92665	0.650000	0.86243	GCT	DNAJC1	-	NULL	ENSG00000136770		0.274	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1		0	19	0	G	NM_022365		22193537	-1			no_errors	ENST00000376980	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	22193537	G	T	22193537	3	4	39	1	0	0	0	0	1	0	0	0	4642	971	34	3	954	3	DNAJC1	10	22193537	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		22193537	113341210	167	9481											
ARHGAP12	94134	genome.wustl.edu	37	chr10	32109333	32109333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcaaatacattctttttGctggatttatcctttgaagc	10	17	5	9	0	2	1	1	1	1	0	3	2	3	2	2	1	3	1	2	1	4	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:32109333G>T	ENST00000344936.2	-	12	1848	c.1614C>A	c.(1612-1614)agC>agA	p.S538R	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.S486R|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.S533R|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.S508R|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.S486R|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	538	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CATTCTTTTTGCTGGATTTAT	0.343																																																	0													97	89	92					10																	32109333		2203	4300	6503	SO:0001583	missense	0			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1614C>A	10.37:g.32109333G>T	ENSP00000345808:p.Ser538Arg		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.S538R	ENST00000344936.2	37	c.1614	CCDS7170.1	10	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606111	0.66445	.	.	ENSG00000165322	ENST00000311380;ENST00000375250;ENST00000344936;ENST00000396144;ENST00000375245	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.74	3.9	0.45041	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89757	0.6807	M	0.88450	2.955	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999;0.999	D	0.89586	0.3824	10	0.87932	D	0	.	9.5574	0.39348	0.2747:0.0:0.7253:0.0	.	491;508;508;533;538;486	Q1RLN5;B3KR88;Q8IWW6-2;Q504X1;Q8IWW6;Q8IWW6-3	.;.;.;.;RHG12_HUMAN;.	R	486;508;538;533;486	ENSP00000310984:S486R;ENSP00000364399:S508R;ENSP00000345808:S538R;ENSP00000379448:S533R;ENSP00000364394:S486R	ENSP00000310984:S486R	S	-	3	2	ARHGAP12	32149339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.131000	0.50515	0.785000	0.33685	-0.229000	0.12294	AGC	ARHGAP12	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000165322		0.343	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1		0	32	0	G			32109333	-1			no_errors	ENST00000344936	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	32109333	G	T	32109333	3	4	39	1	0	0	0	0	1	0	0	0	865	1310	46	3	962	3	ARHGAP12	10	32109333	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	9915796	32109333	103425414	168	9482											
ZNF32	7580	genome.wustl.edu	37	chr10	44139887	44139887	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggacagcgagactacctcGttgactgaagcttttcccac	9	10	10	12	2	0	3	0	2	0	1	2	5	1	4	2	1	3	2	2	1	2	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:44139887G>T	ENST00000395797.1	-	3	621	c.433C>A	c.(433-435)Cga>Aga	p.R145R	ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Silent_p.R145R|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R145*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		AGACTACCTCGTTGACTGAAG	0.483																																																	1	Substitution - Nonsense(1)	large_intestine(1)											145	134	138					10																	44139887		2203	4300	6503	SO:0001819	synonymous_variant	0			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"Zinc fingers, C2H2-type"	13095	protein-coding gene	gene with protein product		194539	"zinc finger protein 32 (KOX 30)"				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.433C>A	10.37:g.44139887G>T			Q92951	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R145	ENST00000395797.1	37	c.433	CCDS7206.1	10																																																																																			ZNF32	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169740		0.483	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32	HGNC	protein_coding	OTTHUMT00000047723.1		0	25	0	G	NM_006973		44139887	-1			no_errors	ENST00000374433	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.147	T	T	44139887	G	T	44139887	2	4	39	1	0	0	0	0	0	0	0	1	17886	1153	40	2		2	ZNF32	10	44139887	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	12030554	44139887	91394860	169	9483											
TMEM72	643236	genome.wustl.edu	37	chr10	45430542	45430542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccctccccaggcccCactcttcctgtcatctctta	5	12	3	21	0	3	0	1	0	2	0	7	0	6	0	7	1	0	0	7	1	1	3	rs374225789		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:45430542C>T	ENST00000544540.1	+	4	918	c.434C>T	c.(433-435)cCa>cTa	p.P145L	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	263						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						CCCCAGGCCCCACTCTTCCTG	0.622																																																	0													62	62	62					10																	45430542		1568	3582	5150	SO:0001583	missense	0			AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 127"	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.434C>T	10.37:g.45430542C>T	ENSP00000439911:p.Pro145Leu		A1L181|Q5T740	Missense_Mutation	SNP	NULL	p.P145L	ENST00000544540.1	37	c.434		10	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259352	0.10239	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.41	4.51	0.55191	.	0.000000	0.49305	D	0.000145	T	0.42154	0.1190	L	0.60455	1.87	0.19575	N	0.999962	B	0.11235	0.004	B	0.11329	0.006	T	0.36939	-0.9727	9	0.46703	T	0.11	-31.6789	8.4333	0.32771	0.0:0.8236:0.0:0.1764	.	263	A0PK05	TMM72_HUMAN	L	263;145	.	ENSP00000374234:P263L	P	+	2	0	TMEM72	44750548	0.008000	0.16893	0.033000	0.17914	0.015000	0.08874	1.198000	0.32223	1.431000	0.47355	0.655000	0.94253	CCA	TMEM72	-	NULL	ENSG00000187783		0.622	TMEM72-201	KNOWN	basic	protein_coding	TMEM72	HGNC	protein_coding		-	0	33	0	C	NM_001123376		45430542	1	tier1	-	no_errors	ENST00000544540	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.105	T	T	45430542	C	T	45430542	3	4	39	1	0	0	0	0	1	0	0	0	16248	594	21	3	806	3	TMEM72	10	45430542	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1290655	45430542	90104205	170	9484											
ALOX5	240	genome.wustl.edu	37	chr10	45920427	45920427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcgggtcatgaatcactgGcaggaagacctgatgtttgg	10	9	15	7	1	2	3	2	2	0	1	2	5	2	4	1	4	1	2	1	4	2	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:45920427G>T	ENST00000374391.2	+	6	734	c.681G>T	c.(679-681)tgG>tgT	p.W227C	ALOX5_ENST00000542434.1_Missense_Mutation_p.W227C	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	227	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGAATCACTGGCAGGAAGACC	0.602																																																	0													135	133	134					10																	45920427		2203	4300	6503	SO:0001583	missense	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.681G>T	10.37:g.45920427G>T	ENSP00000363512:p.Trp227Cys		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.W227C	ENST00000374391.2	37	c.681	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240991	0.39598	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89343	-2.5;-2.5	5.43	4.52	0.55395	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95303	0.8476	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95728	0.8772	10	0.87932	D	0	-12.0745	12.1291	0.53932	0.084:0.0:0.916:0.0	.	227;227;227	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	C	227	ENSP00000437634:W227C;ENSP00000363512:W227C	ENSP00000363512:W227C	W	+	3	0	ALOX5	45240433	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	9.869000	0.99810	1.293000	0.44690	-0.157000	0.13467	TGG	ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000012779		0.602	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	-	0	60	0	G			45920427	1	tier1	-	no_errors	ENST00000374391	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	45920427	G	T	45920427	3	4	39	1	0	0	0	0	1	0	0	0	540	1212	42	3	703	3	ALOX5	10	45920427	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	489885	45920427	89614320	171	9485											
PCDH15	65217	genome.wustl.edu	37	chr10	56423942	56423942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccttaccatcatcataCtggcccaagcagatttcaaa	14	9	5	13	0	3	1	3	0	0	1	3	1	3	1	3	1	4	2	3	1	5	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:56423942C>A	ENST00000320301.6	-	2	475	c.81G>T	c.(79-81)caG>caT	p.Q27H	PCDH15_ENST00000373957.3_Missense_Mutation_p.Q27H|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q27H|PCDH15_ENST00000395442.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q27H|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000414778.1_Missense_Mutation_p.Q27H|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q27H|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q27H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	27					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATCATCATACTGGCCCAAGC	0.383										HNSCC(58;0.16)																																							0													83	74	77					10																	56423942		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.81G>T	10.37:g.56423942C>A	ENSP00000322604:p.Gln27His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q27H	ENST00000320301.6	37	c.81	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685155	0.29872	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955;ENST00000458638	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	0.45;0.46;0.42;0.41;0.42;0.67;0.57;0.32;0.36;-0.04;-0.05;0.37;0.37;0.4;0.51;0.74	5.93	-0.524	0.11920	.	.	.	.	.	T	0.71273	0.3320	L	0.54323	1.7	0.21604	N	0.999625	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.996;0.998;0.998;0.998;0.992;0.985;0.996;0.981;0.992;0.982;0.995;0.985;0.999;0.996;0.985	D;D;D;D;P;P;D;P;P;P;P;P;D;D;P	0.91635	0.993;0.991;0.991;0.976;0.887;0.897;0.993;0.779;0.868;0.812;0.868;0.868;0.999;0.993;0.897	T	0.61564	-0.7037	9	0.72032	D	0.01	.	9.6881	0.40111	0.0:0.5431:0.0:0.4569	.	27;27;27;27;27;27;27;27;27;27;27;27;27;27;27	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	27	ENSP00000363076:Q27H;ENSP00000410304:Q27H;ENSP00000378826:Q27H;ENSP00000378832:Q27H;ENSP00000378833:Q27H;ENSP00000378829:Q27H;ENSP00000378827:Q27H;ENSP00000378820:Q27H;ENSP00000354950:Q27H;ENSP00000378821:Q27H;ENSP00000363068:Q27H;ENSP00000322604:Q27H;ENSP00000378818:Q27H;ENSP00000412628:Q27H;ENSP00000363066:Q27H;ENSP00000394465:Q27H	ENSP00000322604:Q27H	Q	-	3	2	PCDH15	56093948	0.952000	0.32445	0.912000	0.35992	0.038000	0.13279	-0.109000	0.10840	-0.125000	0.11703	-0.229000	0.12294	CAG	PCDH15	-	NULL	ENSG00000150275		0.383	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	47	0	C	NM_033056		56423942	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	29.31	41	17	SNP	0.845	A	A	56423942	C	A	56423942	3	1	39	1	0	0	0	0	1	0	0	0	11550	564	20	3	7577	3	PCDH15	10	56423942	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	10503515	56423942	79110805	172	9486											
TET1	80312	genome.wustl.edu	37	chr10	70332885	70332885	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaagttacctctcaaGgaaaccccagcattcagtta	13	8	5	15	0	2	0	2	0	1	0	3	1	2	1	5	1	3	3	5	1	5	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:70332885G>T	ENST00000373644.4	+	2	999	c.790G>T	c.(790-792)Gga>Tga	p.G264*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	264					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACCTCTCAAGGAAACCCCAG	0.428																																																	0													66	69	68					10																	70332885		2203	4300	6503	SO:0001587	stop_gained	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.790G>T	10.37:g.70332885G>T	ENSP00000362748:p.Gly264*		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Nonsense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.G264*	ENST00000373644.4	37	c.790	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.427846	0.97559	.	.	ENSG00000138336	ENST00000373644	.	.	.	5.53	0.337	0.15966	.	0.728700	0.11905	N	0.518208	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	0.5256	0.00620	0.224:0.1475:0.3069:0.3216	.	.	.	.	X	264	.	ENSP00000362748:G264X	G	+	1	0	TET1	70002891	0.977000	0.34250	0.789000	0.31954	0.987000	0.75469	0.621000	0.24418	0.493000	0.27837	-0.471000	0.05019	GGA	TET1	-	NULL	ENSG00000138336		0.428	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1		0	67	0	G	NM_030625		70332885	1			no_errors	ENST00000373644	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.986	T	T	70332885	G	T	70332885	4	4	39	1	0	0	0	0	0	1	0	0	15816	1001	35	3	792	3	TET1	10	70332885	Nonsense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	13908943	70332885	65201862	173	9487											
KIAA1274	27143	genome.wustl.edu	37	chr10	72292493	72292495	+	In_Frame_Del	DEL	GGA	GGA	-																															gaggacgacttgcatgtgacGgaggaggtgtacaagcggcc																								rs373712496		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:72292493_72292495delGGA	ENST00000263563.6	+	6	1018_1020	c.750_752delGGA	c.(748-753)acggag>acg	p.E252del		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	252						cytosol (GO:0005829)											TGCATGTGACGGAGGAGGTGTAC	0.621																																																	0																																										SO:0001651	inframe_deletion	0			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.750_752delGGA	10.37:g.72292496_72292498delGGA	ENSP00000263563:p.Glu252del		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	In_Frame_Del	DEL	smart_Tyr_Pase_cat	p.E252in_frame_del	ENST00000263563.6	37	c.750_752	CCDS31215.1	10																																																																																			PALD1	-	NULL	ENSG00000107719		0.621	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2		0	55	0	GGA	NM_014431		72292495	1	tier1		no_errors	ENST00000263563	ensembl	human	known	74_37	in_frame_del	27.59	21	8	DEL	0.000:0.961:1.000	-	-	72292495	GGA	-	72292493	7	5	39	1	0	1	0	1	0	0	0	0	8247	1103	39	0	768	0	KIAA1274	10	72292493	In_Frame_Del	DEL	GGA	TCGA-JY-A6FG-01A-11D-A33E-09	1959608	72292493	63242254	174	9488											
CDH23	64072	genome.wustl.edu	37	chr10	73199634	73199634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacgtggcctggcttttgGtgctgatctctggatgctgg	3	13	15	10	1	1	1	0	1	1	0	2	2	1	2	2	5	2	3	2	5	0	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:73199634G>T	ENST00000224721.6	+	1	51	c.46G>T	c.(46-48)Gtg>Ttg	p.V16L	CDH23_ENST00000398809.4_Missense_Mutation_p.V16L|CDH23_ENST00000398842.3_Missense_Mutation_p.V16L|CDH23_ENST00000461841.3_Missense_Mutation_p.V61L|CDH23_ENST00000299366.7_Missense_Mutation_p.V61L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	16					calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGGCTTTTGGTGCTGATCTC	0.622																																																	0													58	62	61					10																	73199634		2086	4189	6275	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.46G>T	10.37:g.73199634G>T	ENSP00000224721:p.Val16Leu		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V61L	ENST00000224721.6	37	c.181		10	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323285	0.24080	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721	T;T	0.57107	0.42;0.47	4.59	1.54	0.23209	.	0.262850	0.24547	N	0.037595	T	0.25158	0.0611	N	0.08118	0	0.46874	D	0.999237	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.03086	-1.1074	10	0.26408	T	0.33	.	4.4694	0.11704	0.217:0.1862:0.5968:0.0	.	16;16;16	A5D6V9;Q9H251;Q9H251-5	.;CAD23_HUMAN;.	L	16	ENSP00000381789:V16L;ENSP00000381822:V16L	ENSP00000224721:V16L	V	+	1	0	CDH23	72869640	0.067000	0.21026	0.571000	0.28486	0.891000	0.51852	-0.018000	0.12568	0.511000	0.28236	0.313000	0.20887	GTG	CDH23	-	NULL	ENSG00000107736		0.622	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0	62	0	G	NM_052836		73199634	1	tier1	-	no_errors	ENST00000461841	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.419	T	T	73199634	G	T	73199634	3	4	39	1	0	0	0	0	1	0	0	0	3115	1261	44	3	48	3	CDH23	10	73199634	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	907141	73199634	62335113	175	9489											
PLA2G12B	84647	genome.wustl.edu	37	chr10	74701076	74701076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcactttgtcattgctGgaatgcccaagtccatctgg	8	12	10	11	0	2	0	1	0	1	0	3	1	3	1	2	2	4	3	2	2	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:74701076G>T	ENST00000373032.3	-	3	409	c.317C>A	c.(316-318)cCa>cAa	p.P106Q		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	106					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TGTCATTGCTGGAATGCCCAA	0.488																																																	0													153	146	148					10																	74701076		2203	4300	6503	SO:0001583	missense	0			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"phospholipase A2, group XIII"	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.317C>A	10.37:g.74701076G>T	ENSP00000362123:p.Pro106Gln		B7ZL23|Q52LB2|Q96Q99	Missense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom	p.P106Q	ENST00000373032.3	37	c.317	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822098	0.90873	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.51	5.51	0.81932	Phospholipase A2 (2);	0.049292	0.85682	D	0.000000	D	0.84070	0.5391	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.99;1.0	D	0.85847	0.1401	9	0.72032	D	0.01	-3.6077	19.4178	0.94709	0.0:0.0:1.0:0.0	.	106;106	B7ZL23;Q9BX93	.;PG12B_HUMAN	Q	106	.	ENSP00000362123:P106Q	P	-	2	0	PLA2G12B	74371082	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.120000	0.94369	2.601000	0.87937	0.655000	0.94253	CCA	PLA2G12B	-	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2_dom	ENSG00000138308		0.488	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	-	0	49	0	G	NM_032562		74701076	-1	tier1	-	no_errors	ENST00000373032	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	74701076	G	T	74701076	3	4	39	1	0	0	0	0	1	0	0	0	12030	1348	47	3	278	3	PLA2G12B	10	74701076	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1501442	74701076	60833671	176	9490											
DUSP13	51207	genome.wustl.edu	37	chr10	76861652	76861652	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatctggcccaggctgtgCacttctctgacgggcagttc	6	11	12	12	1	2	1	0	1	2	0	4	1	2	1	1	3	1	5	1	3	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:76861652C>T	ENST00000472493.2	-	0	0				DUSP13_ENST00000605915.1_5'Flank|DUSP13_ENST00000491677.2_Missense_Mutation_p.C120Y|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000478873.2_5'Flank|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000607131.1_Missense_Mutation_p.C84Y|DUSP13_ENST00000372700.3_Intron	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13						meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCAGGCTGTGCACTTCTCTGA	0.522																																					NSCLC(174;1655 2059 12324 40663 42963)												0													120	114	116					10																	76861652		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516		10.37:g.76861652C>T	Exception_encountered		A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.C120Y	ENST00000472493.2	37	c.359	CCDS7346.1	10	.	.	.	.	.	.	.	.	.	.	C	6.823	0.521065	0.13005	.	.	ENSG00000079393	ENST00000491677;ENST00000372698	T	0.04234	3.67	4.14	-2.89	0.05665	.	3.385780	0.00853	N	0.001848	T	0.02304	0.0071	N	0.08118	0	0.19945	N	0.999946	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	10	0.10902	T	0.67	-5.2851	2.3005	0.04161	0.2031:0.4287:0.2274:0.1408	.	120	F2Z2C4	.	Y	120;84	ENSP00000436312:C120Y	ENSP00000361783:C84Y	C	-	2	0	DUSP13	76531658	0.140000	0.22579	0.100000	0.21137	0.026000	0.11368	-0.424000	0.07025	-0.584000	0.05913	-1.072000	0.02254	TGC	DUSP13	-	NULL	ENSG00000079393		0.522	DUSP13-004	KNOWN	basic|CCDS	protein_coding	DUSP13	HGNC	protein_coding	OTTHUMT00000048786.3	-	0	89	0	C			76861652	-1	tier1	-	no_errors	ENST00000491677	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.137	T	T	76861652	C	T	76861652	1	4	39	0	1	0	0	0	0	0	0	0	4827	710	25	3		3	DUSP13	10	76861652	5'Flank	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2160576	76861652	58673095	177	9491											
GRID1	2894	genome.wustl.edu	37	chr10	87966134	87966134	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcaccatactcgctgtcGtagaacatgacgaacttctg	12	10	7	12	3	2	2	1	1	1	1	4	3	2	2	1	0	4	2	1	0	5	3	rs368572646		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:87966134G>A	ENST00000327946.7	-	3	592	c.507C>T	c.(505-507)taC>taT	p.Y169Y		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	169					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ACTCGCTGTCGTAGAACATGA	0.622										Multiple Myeloma(13;0.14)			G|||	1	0.000199681	0	0	5008	,	,		19710	0		0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	100	78	85		507	-0.1	1	10		85	1,8599		0,1,4299	no	coding-synonymous	GRID1	NM_017551.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		169/1010	87966134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.507C>T	10.37:g.87966134G>A			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y169	ENST00000327946.7	37	c.507	CCDS31236.1	10																																																																																			GRID1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000182771		0.622	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0	40	0	G	XM_043613		87966134	-1	tier1	-	no_errors	ENST00000327946	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.981	A	A	87966134	G	A	87966134	2	1	39	1	0	0	0	0	0	0	0	1	6798	1140	40	1		1	GRID1	10	87966134	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	11104482	87966134	47568613	178	9492											
TRUB1	142940	genome.wustl.edu	37	chr10	116735069	116735069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgagtctaatgaacaGgttttgagctgtgaatatat	14	13	9	5	0	1	4	0	4	1	0	1	4	1	4	1	1	3	2	1	1	6	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:116735069G>T	ENST00000298746.3	+	8	1042	c.981G>T	c.(979-981)caG>caT	p.Q327H		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	327					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CTAATGAACAGGTTTTGAGCT	0.373																																																	0													106	107	107					10																	116735069		2203	4299	6502	SO:0001583	missense	0			AF448144	CCDS7591.1	10q25.3	2013-09-02	2013-09-02		ENSG00000165832	ENSG00000165832			16060	protein-coding gene	gene with protein product		610726	"TruB pseudouridine (psi) synthase homolog 1 (E. coli)"			12736709	Standard	NM_139169		Approved	PUS4	uc001lcd.3	Q8WWH5	OTTHUMG00000019094	ENST00000298746.3:c.981G>T	10.37:g.116735069G>T	ENSP00000298746:p.Gln327His		B2R716|Q53ES2	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB	p.Q327H	ENST00000298746.3	37	c.981	CCDS7591.1	10	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861521	0.32884	.	.	ENSG00000165832	ENST00000298746	T	0.46819	0.86	5.7	0.112	0.14623	Pseudouridine synthase, catalytic domain (1);	0.831321	0.11295	N	0.578859	T	0.32734	0.0839	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34601	-0.9822	10	0.59425	D	0.04	-2.8982	1.0922	0.01665	0.2292:0.1218:0.4034:0.2456	.	327	Q8WWH5	TRUB1_HUMAN	H	327	ENSP00000298746:Q327H	ENSP00000298746:Q327H	Q	+	3	2	TRUB1	116725059	0.108000	0.22018	0.206000	0.23566	0.995000	0.86356	0.228000	0.17814	0.346000	0.23899	0.655000	0.94253	CAG	TRUB1	-	superfamily_PsdUridine_synth_cat_dom	ENSG00000165832		0.373	TRUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB1	HGNC	protein_coding	OTTHUMT00000050504.1		0	19	0	G	NM_139169		116735069	1			no_errors	ENST00000298746	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.046	T	T	116735069	G	T	116735069	3	4	39	1	0	0	0	0	1	0	0	0	16650	991	35	3	1011	3	TRUB1	10	116735069	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	28768935	116735069	18799678	179	9493											
PRLHR	2834	genome.wustl.edu	37	chr10	120354171	120354171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgtgataggtgtgcaCggcggcgggcagcgccagca	7	5	16	13	5	0	1	0	1	0	0	1	1	1	1	2	4	3	3	2	4	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:120354171C>T	ENST00000369169.1	-	1	585	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	PRLHR_ENST00000239032.2_Missense_Mutation_p.V196M			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	196					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		TAGGTGTGCACGGCGGCGGGC	0.721																																																	0													10	11	11					10																	120354171		2184	4258	6442	SO:0001583	missense	0			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.586G>A	10.37:g.120354171C>T	ENSP00000358167:p.Val196Met		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.V196M	ENST00000369169.1	37	c.586	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	C	8.616	0.890366	0.17613	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.72505	-0.66;-0.66	4.54	-9.07	0.00724	GPCR, rhodopsin-like superfamily (1);	1.180340	0.06648	N	0.762291	T	0.49729	0.1574	L	0.37697	1.125	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.40289	-0.9571	10	0.59425	D	0.04	.	1.7109	0.02891	0.2838:0.3653:0.1714:0.1795	.	196	P49683	PRLHR_HUMAN	M	196	ENSP00000239032:V196M;ENSP00000358167:V196M	ENSP00000239032:V196M	V	-	1	0	PRLHR	120344161	0.041000	0.20044	0.348000	0.25681	0.713000	0.41058	0.107000	0.15375	-1.878000	0.01128	-0.940000	0.02684	GTG	PRLHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000119973		0.721	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	-	0	33	0	C	NM_004248		120354171	-1	tier1	-	no_errors	ENST00000239032	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.014	T	T	120354171	C	T	120354171	3	4	39	1	0	0	0	0	1	0	0	0	12572	536	19	1	530	1	PRLHR	10	120354171	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	3619102	120354171	15180576	180	9494											
MKI67	4288	genome.wustl.edu	37	chr10	129910413	129910413	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccaatcagatttgcttcCgaagcaccacttcttctttt	10	15	4	12	1	3	1	1	0	2	1	4	2	4	1	3	0	3	2	3	0	3	7	rs142241283		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:129910413C>T	ENST00000368654.3	-	9	2328	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	MKI67_ENST00000368653.3_Silent_p.S291S|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	651					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.S651S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GATTTGCTTCCGAAGCACCAC	0.358																																																	1	Substitution - coding silent(1)	endometrium(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	81	79	80		873,1953	-8.9	0.1	10	dbSNP_134	80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MKI67	NM_001145966.1,NM_002417.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	291/2897,651/3257	129910413	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1953G>A	10.37:g.129910413C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S651	ENST00000368654.3	37	c.1953	CCDS7659.1	10																																																																																			MKI67	-	NULL	ENSG00000148773		0.358	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	36	0	C	NM_002417		129910413	-1	tier1	rs142241283	no_errors	ENST00000368654	ensembl	human	known	74_37	silent	31.58	52	24	SNP	0.352	T	T	129910413	C	T	129910413	2	4	39	1	0	0	0	0	0	0	0	1	9636	639	23	1		1	MKI67	10	129910413	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	9556242	129910413	5624334	181	9495											
PWWP2B	170394	genome.wustl.edu	37	chr10	134218219	134218219	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggccgggctcccgaggAgggggatgcagaggtgatgc	7	5	19	10	2	0	2	0	1	0	1	1	5	1	4	3	6	2	2	3	6	0	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr10:134218219A>T	ENST00000305233.5	+	2	274	c.215A>T	c.(214-216)gAg>gTg	p.E72V	PWWP2B_ENST00000368609.4_Missense_Mutation_p.E72V	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	72										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCTCCCGAGGAGGGGGATGCA	0.721																																																	0													62	70	67					10																	134218219		2140	4271	6411	SO:0001583	missense	0			AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"PWWP domain containing 2"	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.215A>T	10.37:g.134218219A>T	ENSP00000306324:p.Glu72Val		A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Missense_Mutation	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.E72V	ENST00000305233.5	37	c.215	CCDS7667.2	10	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002660	0.35320	.	.	ENSG00000171813	ENST00000305233;ENST00000368609	T;T	0.56941	0.43;1.42	4.41	3.27	0.37495	.	.	.	.	.	T	0.32315	0.0825	N	0.12182	0.205	0.09310	N	1	P	0.35077	0.483	B	0.33392	0.163	T	0.15178	-1.0446	9	0.56958	D	0.05	-2.9391	7.7293	0.28777	0.9007:0.0:0.0993:0.0	.	72	Q6NUJ5	PWP2B_HUMAN	V	72	ENSP00000306324:E72V;ENSP00000357598:E72V	ENSP00000306324:E72V	E	+	2	0	PWWP2B	134068209	0.000000	0.05858	0.030000	0.17652	0.018000	0.09664	0.452000	0.21795	0.661000	0.30985	0.460000	0.39030	GAG	PWWP2B	-	NULL	ENSG00000171813		0.721	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2B	HGNC	protein_coding	OTTHUMT00000051075.3	-	0	25	0	A	NM_138499		134218219	1	tier1	-	no_errors	ENST00000305233	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.006	T	T	134218219	A	T	134218219	3	4	39	1	0	0	0	0	1	0	0	0	12891	304	11	5	221	5	PWWP2B	10	134218219	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	4307806	134218219	1316528	182	9496											
LRRC56	115399	genome.wustl.edu	37	chr11	552588	552588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccctcccctataggcacCcggagtcccaacaggaaggg	9	4	11	17	1	0	0	0	0	0	0	2	2	2	2	6	4	1	1	6	4	4	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:552588C>T	ENST00000270115.7	+	13	1701	c.1201C>T	c.(1201-1203)Ccg>Tcg	p.P401S		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	401										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTATAGGCACCCGGAGTCCCA	0.667																																																	0													17	18	18					11																	552588		2181	4289	6470	SO:0001583	missense	0				CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.1201C>T	11.37:g.552588C>T	ENSP00000270115:p.Pro401Ser		Q8N3Q4	Missense_Mutation	SNP	NULL	p.P401S	ENST00000270115.7	37	c.1201	CCDS7700.1	11	.	.	.	.	.	.	.	.	.	.	C	5.377	0.254825	0.10185	.	.	ENSG00000161328	ENST00000270115	T	0.07216	3.21	3.85	-0.646	0.11472	.	1.662950	0.04290	N	0.345283	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.15052	0.012	T	0.40887	-0.9539	10	0.14656	T	0.56	-34.4566	5.0925	0.14715	0.5036:0.3898:0.0:0.1067	.	401	Q8IYG6	LRC56_HUMAN	S	401	ENSP00000270115:P401S	ENSP00000270115:P401S	P	+	1	0	LRRC56	542588	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.152000	0.16302	-0.208000	0.10171	0.561000	0.74099	CCG	LRRC56	-	NULL	ENSG00000161328		0.667	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC56	HGNC	protein_coding	OTTHUMT00000254969.1	-	0	247	0	C	NM_198075		552588	1	tier1	-	no_errors	ENST00000270115	ensembl	human	known	74_37	missense	27.27	96	36	SNP	0.000	T	T	552588	C	T	552588	3	4	39	1	0	0	0	0	1	0	0	0	9047	623	22	3	1239	3	LRRC56	11	552588	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		552588	134453928	183	9497											
SMPD1	6609	genome.wustl.edu	37	chr11	6413037	6413037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtgccggatactggggcGaatacagcaagtgtgacctg	10	7	15	9	2	0	1	0	1	0	0	0	3	0	2	2	4	4	1	2	4	4	2	rs200763423		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:6413037G>A	ENST00000342245.4	+	2	910	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	SMPD1_ENST00000527275.1_Missense_Mutation_p.E247K|SMPD1_ENST00000299397.3_Missense_Mutation_p.E248K|SMPD1_ENST00000356761.2_Missense_Mutation_p.E248K|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	246			S -> R (in NPDA and NPDB; also found in patients with an intermediate form). {ECO:0000269|PubMed:12369017, ECO:0000269|PubMed:12556236, ECO:0000269|PubMed:15877209}.		cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	ATACTGGGGCGAATACAGCAA	0.652																																																	0			GRCh37	CM041853	SMPD1	M							59	72	68					11																	6413037		2201	4296	6497	SO:0001583	missense	0			AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"acid sphingomyelinase"	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.742G>A	11.37:g.6413037G>A	ENSP00000340409:p.Glu248Lys		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB	p.E248K	ENST00000342245.4	37	c.742	CCDS44531.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598738	0.87055	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.94184	-3.37;-3.37;-3.37;-3.37	5.02	4.1	0.47936	Metallophosphoesterase domain (1);	0.300406	0.30781	N	0.008884	D	0.92831	0.7720	L	0.42245	1.32	0.32924	D	0.516272	D;D;D	0.69078	0.997;0.996;0.989	P;P;P	0.58520	0.775;0.752;0.84	D	0.93452	0.6803	10	0.72032	D	0.01	-37.2233	8.1531	0.31152	0.1803:0.0:0.8197:0.0	.	247;248;246	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	K	248;248;248;247	ENSP00000299397:E248K;ENSP00000349203:E248K;ENSP00000340409:E248K;ENSP00000435350:E247K	ENSP00000299397:E248K	E	+	1	0	SMPD1	6369613	0.992000	0.36948	1.000000	0.80357	0.987000	0.75469	2.635000	0.46537	2.326000	0.78906	0.561000	0.74099	GAA	SMPD1	-	pfam_PEstase_dom,pirsf_Sphingomy_PDE	ENSG00000166311		0.652	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPD1	HGNC	protein_coding	OTTHUMT00000384205.1	-	0	27	0	G	NM_000543		6413037	1	tier1	rs200763423	no_errors	ENST00000342245	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.990	A	A	6413037	G	A	6413037	3	1	39	1	0	0	0	0	1	0	0	0	14849	1059	37	1	748	1	SMPD1	11	6413037	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	5860449	6413037	128593479	184	9498											
PPFIBP2	8495	genome.wustl.edu	37	chr11	7669640	7669640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaatgccccctttgccCagtggagcacagagcgtgtg	8	7	12	14	2	0	1	0	0	0	1	0	2	0	2	4	1	4	1	4	1	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:7669640C>A	ENST00000299492.4	+	18	2057	c.1669C>A	c.(1669-1671)Cag>Aag	p.Q557K	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.Q445K|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.Q399K|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.Q414K	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	557					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCCCTTTGCCCAGTGGAGCAC	0.512																																																	0													129	100	110					11																	7669640		2201	4296	6497	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1669C>A	11.37:g.7669640C>A	ENSP00000299492:p.Gln557Lys		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q557K	ENST00000299492.4	37	c.1669	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737769	0.30774	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.74	5.74	0.90152	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	T	0.43919	0.1269	N	0.03050	-0.425	0.48696	D	0.999691	B;P;B;D;D;P	0.69078	0.178;0.89;0.259;0.997;0.997;0.479	B;P;B;D;D;B	0.78314	0.156;0.838;0.166;0.991;0.991;0.217	T	0.49513	-0.8932	10	0.15499	T	0.54	-20.3046	17.4118	0.87488	0.0:1.0:0.0:0.0	.	445;445;480;399;414;557	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	K	557;399;480;445;414	ENSP00000299492:Q557K;ENSP00000436498:Q399K;ENSP00000435469:Q445K;ENSP00000437321:Q414K	ENSP00000299492:Q557K	Q	+	1	0	PPFIBP2	7626216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.030000	0.64128	2.716000	0.92895	0.561000	0.74099	CAG	PPFIBP2	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM	ENSG00000166387		0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	-	0	28	0	C	NM_003621		7669640	1	tier1	-	no_errors	ENST00000299492	ensembl	human	known	74_37	missense	40.62	18	13	SNP	1.000	A	A	7669640	C	A	7669640	3	1	39	1	0	0	0	0	1	0	0	0	12353	595	21	3	1735	3	PPFIBP2	11	7669640	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1256603	7669640	127336876	185	9499											
ABCC8	6833	genome.wustl.edu	37	chr11	17418754	17418754	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcacccaggagcccctcgTagctctctgcctcggttttc	4	12	8	17	2	2	0	1	0	2	0	7	1	2	1	4	2	3	3	4	2	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:17418754T>G	ENST00000389817.3	-	32	4042	c.3974A>C	c.(3973-3975)tAc>tCc	p.Y1325S	ABCC8_ENST00000302539.4_Missense_Mutation_p.Y1326S			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1325					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GAGCCCCTCGTAGCTCTCTGC	0.622																																																	0													84	85	85					11																	17418754		2200	4293	6493	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3974A>C	11.37:g.17418754T>G	ENSP00000374467:p.Tyr1325Ser		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Y1326S	ENST00000389817.3	37	c.3977	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	T	15.62	2.887344	0.52014	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.91295	-2.82;-2.82	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.80984	0.4729	N	0.05177	-0.1	0.80722	D	1	B	0.22414	0.069	B	0.21546	0.035	T	0.77133	-0.2700	10	0.36615	T	0.2	.	14.8179	0.70048	0.0:0.0:0.0:1.0	.	1325	Q09428	ABCC8_HUMAN	S	1325;1326	ENSP00000374467:Y1325S;ENSP00000303960:Y1326S	ENSP00000303960:Y1326S	Y	-	2	0	ABCC8	17375330	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	8.036000	0.88901	1.904000	0.55121	0.454000	0.30748	TAC	ABCC8	-	superfamily_P-loop_NTPase	ENSG00000006071		0.622	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	53	0	T	NM_000352		17418754	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	48.28	15	14	SNP	1.000	G	G	17418754	T	G	17418754	3	3	39	1	0	0	0	0	1	0	0	0	58	1638	57	4	803	4	ABCC8	11	17418754	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	9749114	17418754	117587762	186	9500											
TPH1	7166	genome.wustl.edu	37	chr11	18062306	18062306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccttattgtcttcaaTcatgatgaatttggagtaat	10	18	7	6	0	4	2	2	2	2	0	5	3	4	3	1	1	0	2	1	1	4	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:18062306T>A	ENST00000250018.2	-	1	566	c.4A>T	c.(4-6)Att>Ttt	p.I2F	TPH1_ENST00000341556.2_Missense_Mutation_p.I2F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	2					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTGTCTTCAATCATGATGAAT	0.338																																																	0													59	56	57					11																	18062306		2199	4291	6490	SO:0001583	missense	0			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.4A>T	11.37:g.18062306T>A	ENSP00000250018:p.Ile2Phe		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.I2F	ENST00000250018.2	37	c.4	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925905	0.73327	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99656	-6.27;-6.31;-5.03	5.28	5.28	0.74379	.	0.046333	0.85682	D	0.000000	D	0.99266	0.9744	M	0.84433	2.695	0.80722	D	1	P	0.43885	0.82	P	0.45037	0.467	D	0.98994	1.0809	10	0.72032	D	0.01	-9.0253	15.1867	0.73009	0.0:0.0:0.0:1.0	.	2	P17752	TPH1_HUMAN	F	2;2;12	ENSP00000250018:I2F;ENSP00000343550:I2F;ENSP00000436081:I12F	ENSP00000250018:I2F	I	-	1	0	TPH1	18018882	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.107000	0.64603	2.003000	0.58678	0.402000	0.26972	ATT	TPH1	-	pirsf_Tyrosine_3-monooxygenase-like	ENSG00000129167		0.338	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	HGNC	protein_coding	OTTHUMT00000389696.1	-	0	59	0	T	NM_004179		18062306	-1	tier1	-	no_errors	ENST00000341556	ensembl	human	known	74_37	missense	50.00	40	40	SNP	1.000	A	A	18062306	T	A	18062306	3	1	39	1	0	0	0	0	1	0	0	0	16449	1435	50	5	1370	5	TPH1	11	18062306	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	643552	18062306	116944210	187	9501											
NAV2	89797	genome.wustl.edu	37	chr11	19967974	19967974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaggctcggcggctgcGgacagtgaagaacatcgctg	8	7	15	11	4	0	3	0	2	0	1	3	4	1	4	1	4	2	3	1	4	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:19967974G>A	ENST00000396087.3	+	10	2342	c.2243G>A	c.(2242-2244)cGg>cAg	p.R748Q	NAV2_ENST00000540292.1_Missense_Mutation_p.R679Q|NAV2_ENST00000349880.4_Missense_Mutation_p.R725Q|NAV2_ENST00000396085.1_Missense_Mutation_p.R725Q|NAV2_ENST00000527559.2_Missense_Mutation_p.R677Q|NAV2_ENST00000360655.4_Missense_Mutation_p.R661Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	748					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGCGGCTGCGGACAGTGAAG	0.483																																																	0													61	58	59					11																	19967974		2199	4293	6492	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2243G>A	11.37:g.19967974G>A	ENSP00000379396:p.Arg748Gln		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R748Q	ENST00000396087.3	37	c.2243	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.007041	0.97195	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5;2.5	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000015	T	0.40297	0.1111	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.01805	-1.1270	9	.	.	.	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	725;661	Q8IVL1-3;Q8IVL1-4	.;.	Q	661;725;725;748;677;679	ENSP00000353871:R661Q;ENSP00000379394:R725Q;ENSP00000309577:R725Q;ENSP00000379396:R748Q;ENSP00000435395:R677Q;ENSP00000443489:R679Q	.	R	+	2	0	NAV2	19924550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.811000	0.96726	0.555000	0.69702	CGG	NAV2	-	NULL	ENSG00000166833		0.483	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	77	0	G	NM_145117		19967974	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	36.62	45	26	SNP	1.000	A	A	19967974	G	A	19967974	3	1	39	1	0	0	0	0	1	0	0	0	10222	1116	39	1	2287	1	NAV2	11	19967974	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1905668	19967974	115038542	188	9502											
SLC17A6	57084	genome.wustl.edu	37	chr11	22360142	22360142	+	Frame_Shift_Del	DEL	A	A	-																															gggctaaagaattttgctggAaaatcactcggccagatcta																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:22360142delA	ENST00000263160.3	+	1	500	c.63delA	c.(61-63)ggafs	p.G21fs	CTD-2140G10.2_ENST00000531304.1_RNA|CTD-2140G10.2_ENST00000528009.1_RNA|CTD-2140G10.2_ENST00000530569.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	21					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATTTTGCTGGAAAATCACTCG	0.453																																																	0													64	68	66					11																	22360142		2203	4300	6503	SO:0001589	frameshift_variant	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.63delA	11.37:g.22360142delA	ENSP00000263160:p.Gly21fs		A6NKS2	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K22fs	ENST00000263160.3	37	c.63	CCDS7856.1	11																																																																																			SLC17A6	-	NULL	ENSG00000091664		0.453	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1		0	39	0	A	NM_020346		22360142	1	tier1		no_errors	ENST00000263160	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.999	-	-	22360142	A	-	22360142	7	5	39	1	0	1	0	1	0	0	0	0	14466	233	9	0	65	0	SLC17A6	11	22360142	Frame_Shift_Del	DEL	A	TCGA-JY-A6FG-01A-11D-A33E-09	2392168	22360142	112646374	189	9503											
OR10AG1	282770	genome.wustl.edu	37	chr11	55735930	55735930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaaaccccaaaagaaCaaattccattattgtagtca	19	9	4	9	0	2	2	2	0	0	2	3	2	3	2	3	0	2	1	3	0	8	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:55735930C>A	ENST00000312345.2	-	1	60	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	4						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CCCAAAAGAACAAATTCCATT	0.313																																																	0													29	33	32					11																	55735930		2185	4260	6445	SO:0001583	missense	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.10G>T	11.37:g.55735930C>A	ENSP00000311477:p.Val4Phe		B2RNH4|Q6IEU3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V4F	ENST00000312345.2	37	c.10	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140665	0.37825	.	.	ENSG00000174970	ENST00000312345	T	0.00608	6.25	5.38	-0.577	0.11727	.	0.496490	0.16561	N	0.209060	T	0.00580	0.0019	L	0.42632	1.34	0.22401	N	0.999136	B	0.23937	0.094	B	0.25614	0.062	T	0.45454	-0.9260	10	0.66056	D	0.02	.	5.1955	0.15233	0.0:0.3073:0.16:0.5326	.	4	Q8NH19	O10AG_HUMAN	F	4	ENSP00000311477:V4F	ENSP00000311477:V4F	V	-	1	0	OR10AG1	55492506	0.000000	0.05858	0.938000	0.37757	0.957000	0.61999	-1.214000	0.02988	0.022000	0.15160	0.398000	0.26397	GTT	OR10AG1	-	NULL	ENSG00000174970		0.313	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1		0	10	0	C	NM_001005491		55735930	-1			no_errors	ENST00000312345	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.375	A	A	55735930	C	A	55735930	3	1	39	1	0	0	0	0	1	0	0	0	10936	478	17	3	898	3	OR10AG1	11	55735930	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	33375788	55735930	79270586	190	9504											
OR8K1	390157	genome.wustl.edu	37	chr11	56113847	56113847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagctagcattctttgaGattttcatcatctctgagct	9	16	6	10	0	5	2	3	2	2	1	6	3	5	2	0	0	3	3	0	0	1	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:56113847G>T	ENST00000279783.2	+	1	427	c.333G>T	c.(331-333)gaG>gaT	p.E111D		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CATTCTTTGAGATTTTCATCA	0.408										HNSCC(65;0.19)																																							0													181	182	182					11																	56113847		2201	4296	6497	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.333G>T	11.37:g.56113847G>T	ENSP00000279783:p.Glu111Asp		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E111D	ENST00000279783.2	37	c.333	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094672	0.36952	.	.	ENSG00000150261	ENST00000279783	T	0.00551	6.65	5.0	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.561532	0.15800	N	0.244009	T	0.00241	0.0007	N	0.01048	-1.04	0.09310	N	1	B	0.24186	0.099	B	0.12837	0.008	T	0.43048	-0.9415	10	0.45353	T	0.12	-6.9851	8.1077	0.30896	0.0:0.2251:0.269:0.506	.	111	Q8NGG5	OR8K1_HUMAN	D	111	ENSP00000279783:E111D	ENSP00000279783:E111D	E	+	3	2	OR8K1	55870423	0.000000	0.05858	0.671000	0.29857	0.967000	0.64934	-0.374000	0.07484	0.450000	0.26774	0.549000	0.68633	GAG	OR8K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000150261		0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1		0	11	0	G	NM_001002907		56113847	1			no_errors	ENST00000279783	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.001	T	T	56113847	G	T	56113847	3	4	39	1	0	0	0	0	1	0	0	0	11282	933	33	3	335	3	OR8K1	11	56113847	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	377917	56113847	78892669	191	9505											
LRP5	4041	genome.wustl.edu	37	chr11	68183887	68183887	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggatctcatcctgcccctGcatggactgaggaacgtcaa	9	8	10	14	2	2	1	2	1	1	0	4	4	3	4	4	3	3	1	4	3	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:68183887G>A	ENST00000294304.7	+	13	3025	c.2919G>A	c.(2917-2919)ctG>ctA	p.L973L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	973	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGCCCCTGCATGGACTGA	0.577																																																	0													108	93	98					11																	68183887		2200	4294	6494	SO:0001819	synonymous_variant	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2919G>A	11.37:g.68183887G>A			Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L973	ENST00000294304.7	37	c.2919	CCDS8181.1	11																																																																																			LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt	ENSG00000162337		0.577	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1		0	57	0	G	NM_002335		68183887	1			no_errors	ENST00000294304	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.997	A	A	68183887	G	A	68183887	2	1	39	1	0	0	0	0	0	0	0	1	8995	1306	46	3		3	LRP5	11	68183887	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	12070040	68183887	66822629	192	9506											
ODZ4	26011	genome.wustl.edu	37	chr11	78369429	78369429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggatgtctgtgtagcGtctagtcctgccattaagta	8	13	12	8	1	2	0	0	0	2	0	3	2	3	1	2	1	3	3	2	1	4	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:78369429G>T	ENST00000278550.7	-	34	8446	c.7984C>A	c.(7984-7986)Cgc>Agc	p.R2662S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2662					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TCTGTGTAGCGTCTAGTCCTG	0.602																																																	0													61	69	66					11																	78369429		2118	4253	6371	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.7984C>A	11.37:g.78369429G>T	ENSP00000278550:p.Arg2662Ser		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R2662S	ENST00000278550.7	37	c.7984	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779947	0.90195	.	.	ENSG00000149256	ENST00000278550	D	0.89810	-2.57	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.94122	0.8115	M	0.72894	2.215	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	D	0.92961	0.6389	9	.	.	.	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	2662	Q6N022	TEN4_HUMAN	S	2662	ENSP00000278550:R2662S	.	R	-	1	0	ODZ4	78047077	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.541000	0.73865	2.906000	0.99361	0.655000	0.94253	CGC	TENM4	-	NULL	ENSG00000149256		0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	42	0	G			78369429	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	37.14	21	13	SNP	1.000	T	T	78369429	G	T	78369429	3	4	39	1	0	0	0	0	1	0	0	0	10876	1145	40	2	329	2	ODZ4	11	78369429	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10185542	78369429	56637087	193	9507											
SYTL2	54843	genome.wustl.edu	37	chr11	85435209	85435209	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcaattcaactttacttGtttttgtagagttttctttg	8	21	7	5	0	3	1	2	0	1	1	3	2	3	1	0	0	2	3	0	0	4	10			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:85435209G>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.T1288K|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.T764K|SYTL2_ENST00000354566.3_Missense_Mutation_p.T764K	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AACTTTACTTGTTTTTGTAGA	0.398																																																	0													80	82	81					11																	85435209		2203	4299	6502	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3207C>A	11.37:g.85435209G>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T1288K	ENST00000528231.1	37	c.3863	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711434	0.30322	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.37411	1.68;1.68;1.68;1.2	6.02	-0.931	0.10438	.	1.346840	0.04335	N	0.353007	T	0.28995	0.0720	L	0.32530	0.975	0.09310	N	1	P;B;B	0.37276	0.589;0.435;0.435	B;B;B	0.36186	0.219;0.219;0.219	T	0.33701	-0.9858	9	.	.	.	1.7408	10.7101	0.45977	0.492:0.0:0.508:0.0	.	764;764;764	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	K	1288;764;764;183	ENSP00000352065:T1288K;ENSP00000346576:T764K;ENSP00000432694:T764K;ENSP00000435009:T183K	.	T	-	2	0	SYTL2	85112857	0.000000	0.05858	0.000000	0.03702	0.969000	0.65631	-0.119000	0.10676	-0.046000	0.13446	-0.142000	0.14014	ACA	SYTL2	-	NULL	ENSG00000137501		0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1		0	16	0	G	NM_206927		85435209	-1			no_errors	ENST00000359152	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	T	T	85435209	G	T	85435209	1	4	39	0	1	0	0	0	0	0	0	0	15530	1377	48	3		3	SYTL2	11	85435209	Intron	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	7065780	85435209	49571307	194	9508											
TYR	7299	genome.wustl.edu	37	chr11	88961100	88961100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtacagggatctgccaaCgatcctatcttccttcttca	9	12	7	13	1	4	0	1	0	3	0	6	2	6	1	3	2	3	1	3	2	3	5	rs104894315		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:88961100C>A	ENST00000263321.5	+	3	1648	c.1146C>A	c.(1144-1146)aaC>aaA	p.N382K		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	382			N -> K (in OCA1A).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GATCTGCCAACGATCCTATCT	0.423																																																	0			GRCh37	CM920696	TYR	M	rs104894315						184	152	163					11																	88961100		2201	4298	6499	SO:0001583	missense	0			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1146C>A	11.37:g.88961100C>A	ENSP00000263321:p.Asn382Lys		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.N382K	ENST00000263321.5	37	c.1146	CCDS8284.1	11	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901653	0.72754	.	.	ENSG00000077498	ENST00000263321	D	0.99014	-5.33	5.38	-8.43	0.00953	Tyrosinase (2);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.98887	0.9623	M	0.84433	2.695	0.58432	A	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.99959	1.1683	8	.	.	.	.	14.654	0.68820	0.0:0.3954:0.0:0.6046	rs62645910	382	P14679	TYRO_HUMAN	K	382	ENSP00000263321:N382K	.	N	+	3	2	TYR	88600748	0.002000	0.14202	0.804000	0.32291	0.961000	0.63080	-1.437000	0.02419	-1.452000	0.01931	-0.290000	0.09829	AAC	TYR	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	ENSG00000077498		0.423	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	-	0	51	0	C	NM_000372		88961100	1	tier1	rs62645910	no_errors	ENST00000263321	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.882	A	A	88961100	C	A	88961100	3	1	39	1	0	0	0	0	1	0	0	0	16862	535	19	2	1156	2	TYR	11	88961100	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	3525891	88961100	46045416	195	9509											
FAT3	120114	genome.wustl.edu	37	chr11	92538510	92538510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacaatagcccagtgtgtGatcaggtgagatttggggat	11	11	14	5	0	1	3	1	3	0	1	1	5	1	4	1	3	1	0	1	3	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:92538510G>A	ENST00000298047.6	+	10	9105	c.9088G>A	c.(9088-9090)Gat>Aat	p.D3030N	FAT3_ENST00000409404.2_Missense_Mutation_p.D3030N|FAT3_ENST00000525166.1_Missense_Mutation_p.D2880N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3030	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGTGTGTGATCAGGTGAG	0.423										TCGA Ovarian(4;0.039)																																							0													57	56	56					11																	92538510		1939	4147	6086	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9088G>A	11.37:g.92538510G>A	ENSP00000298047:p.Asp3030Asn		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D3030N	ENST00000298047.6	37	c.9088		11	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885877	0.51908	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01725	4.67;4.67;4.67	5.91	5.01	0.66863	.	.	.	.	.	T	0.01800	0.0057	N	0.17872	0.535	0.80722	D	1	B	0.15930	0.015	B	0.15870	0.014	T	0.60362	-0.7278	9	0.24483	T	0.36	.	15.154	0.72726	0.0675:0.0:0.9325:0.0	.	3030	Q8TDW7-3	.	N	3030;3030;2880	ENSP00000298047:D3030N;ENSP00000387040:D3030N;ENSP00000432586:D2880N	ENSP00000298047:D3030N	D	+	1	0	FAT3	92178158	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	5.656000	0.67988	1.518000	0.48934	0.650000	0.86243	GAT	FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.423	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	35	0	G	NM_001008781		92538510	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	7.58	59	5	SNP	1.000	A	A	92538510	G	A	92538510	3	1	39	1	0	0	0	0	1	0	0	0	5713	1290	45	3	9126	3	FAT3	11	92538510	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	3577410	92538510	42468006	196	9510											
ANKRD49	54851	genome.wustl.edu	37	chr11	94231249	94231249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcagcttaccacagtgCggagactcctttctgaaaag	10	11	8	12	1	2	2	1	1	2	1	4	3	3	2	2	1	3	1	2	1	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:94231249C>T	ENST00000544612.1	+	3	768	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	ANKRD49_ENST00000302755.4_Missense_Mutation_p.R91W|ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000540349.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	91					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.R91W(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACCACAGTGCGGAGACTCCT	0.383																																					Melanoma(113;823 1621 4352 9582 22033)												2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)											47	48	48					11																	94231249		2201	4298	6499	SO:0001583	missense	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"Ankyrin repeat domain containing"	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.271C>T	11.37:g.94231249C>T	ENSP00000440396:p.Arg91Trp		Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R91W	ENST00000544612.1	37	c.271	CCDS8300.1	11	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621846	0.66787	.	.	ENSG00000168876	ENST00000544612;ENST00000535502;ENST00000545130;ENST00000302755	T;T;T	0.67523	-0.27;-0.27;-0.27	6.07	6.07	0.98685	Ankyrin repeat-containing domain (4);	0.912497	0.09637	N	0.775476	T	0.81442	0.4823	M	0.84156	2.68	0.09310	N	1	D	0.57571	0.98	P	0.55303	0.773	T	0.73861	-0.3849	10	0.87932	D	0	-2.4181	16.2596	0.82533	0.1404:0.8596:0.0:0.0	.	91	Q8WVL7	ANR49_HUMAN	W	91;50;126;91	ENSP00000440396:R91W;ENSP00000442449:R50W;ENSP00000303518:R91W	ENSP00000303518:R91W	R	+	1	2	ANKRD49	93870897	0.009000	0.17119	0.845000	0.33349	0.785000	0.44390	1.673000	0.37534	2.885000	0.99019	0.655000	0.94253	CGG	ANKRD49	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168876		0.383	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2		0	35	0	C	NM_017704		94231249	1			no_errors	ENST00000302755	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.019	T	T	94231249	C	T	94231249	3	4	39	1	0	0	0	0	1	0	0	0	675	759	27	1	277	1	ANKRD49	11	94231249	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1692739	94231249	40775267	197	9511											
C11orf70	85016	genome.wustl.edu	37	chr11	101946692	101946692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttttcaaacatctttGccttggtggagccctttgtc	5	18	8	10	0	3	0	1	0	2	0	4	1	3	1	2	2	3	0	2	2	1	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:101946692G>A	ENST00000434758.2	+	5	552	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	C11orf70_ENST00000526781.1_Missense_Mutation_p.C175Y|C11orf70_ENST00000534360.1_3'UTR	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	175										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AAACATCTTTGCCTTGGTGGA	0.383																																																	0													159	153	155					11																	101946692		2203	4299	6502	SO:0001583	missense	0			AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.524G>A	11.37:g.101946692G>A	ENSP00000414390:p.Cys175Tyr		E9PJU1	Missense_Mutation	SNP	NULL	p.C175Y	ENST00000434758.2	37	c.524	CCDS8313.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.36|19.36	3.813656|3.813656	0.70912|0.70912	.|.	.|.	ENSG00000137691|ENSG00000137691	ENST00000529204|ENST00000434758;ENST00000526781;ENST00000423732	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.083749	.|0.85682	.|D	.|0.000000	D|D	0.82467|0.82467	0.5043|0.5043	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.73380	.|0.98	D|D	0.83641|0.83641	0.0150|0.0150	5|9	.|0.87932	.|D	.|0	-12.1894|-12.1894	19.8575|19.8575	0.96767|0.96767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|175	.|Q9BRQ4	.|CK070_HUMAN	T|Y	67|175;175;137	.|.	.|ENSP00000392150:C137Y	A|C	+|+	1|2	0|0	C11orf70|C11orf70	101451902|101451902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	7.024000|7.024000	0.76443|0.76443	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	GCC|TGC	C11orf70	-	NULL	ENSG00000137691		0.383	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf70	HGNC	protein_coding	OTTHUMT00000394144.1	-	0	38	0	G	NM_032930		101946692	1	tier1	-	no_errors	ENST00000434758	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	A	A	101946692	G	A	101946692	3	1	39	1	0	0	0	0	1	0	0	0	1664	1319	46	3	424	3	C11orf70	11	101946692	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	7715443	101946692	33059824	198	9512											
BIRC3	330	genome.wustl.edu	37	chr11	102198860	102198860	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccctcatctacttgaacAggtagggcaagttctttttt	9	16	7	9	0	3	1	1	1	2	0	3	1	3	1	1	2	3	3	1	2	5	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:102198860A>G	ENST00000263464.3	+	4	3781	c.1031A>G	c.(1030-1032)cAg>cGg	p.Q344R	BIRC3_ENST00000532808.1_Splice_Site_p.Q344R	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	344					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CTACTTGAACAGGTAGGGCAA	0.343			T	MALT1	MALT																																			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													84	82	83					11																	102198860		2203	4299	6502	SO:0001630	splice_region_variant	0			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1032+1A>G	11.37:g.102198860A>G			Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.Q344R	ENST00000263464.3	37	c.1031	CCDS8315.1	11	.	.	.	.	.	.	.	.	.	.	A	17.27	3.347806	0.61183	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609;ENST00000527309	T;T;T	0.66815	1.96;1.96;-0.23	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	M	0.73753	2.245	0.80722	D	1	P	0.40230	0.708	B	0.43194	0.411	T	0.73528	-0.3954	10	0.45353	T	0.12	.	15.2378	0.73443	1.0:0.0:0.0:0.0	.	344	Q13489	BIRC3_HUMAN	R	344;344;193;148	ENSP00000263464:Q344R;ENSP00000432907:Q344R;ENSP00000431718:Q148R	ENSP00000263464:Q344R	Q	+	2	0	BIRC3	101704070	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.169000	0.89672	2.248000	0.74166	0.533000	0.62120	CAG	BIRC3	-	NULL	ENSG00000023445		0.343	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	HGNC	protein_coding	OTTHUMT00000394159.1		0	38	0	A	NM_001165	Missense_Mutation	102198860	1			no_errors	ENST00000263464	ensembl	human	known	74_37	missense	5.88	63	4	SNP	1.000	G	G	102198860	A	G	102198860	5	3	39	1	0	0	0	0	0	0	1	0	1438	202	7	4	1041	4	BIRC3	11	102198860	Splice_Site	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	252168	102198860	32807656	199	9513											
USP28	57646	genome.wustl.edu	37	chr11	113700044	113700044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggatactggccgaaggTctcattgttacaaaagggtt	13	10	12	6	1	1	1	1	0	1	1	2	3	1	2	1	4	2	2	1	4	6	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:113700044T>C	ENST00000003302.4	-	10	1002	c.934A>G	c.(934-936)Acc>Gcc	p.T312A	USP28_ENST00000260188.5_Missense_Mutation_p.T312A|USP28_ENST00000537706.1_Missense_Mutation_p.T312A|USP28_ENST00000544967.1_Missense_Mutation_p.T20A|USP28_ENST00000545540.1_Missense_Mutation_p.T187A|USP28_ENST00000542033.1_5'Flank	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	312	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TGGCCGAAGGTCTCATTGTTA	0.453																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													147	134	138					11																	113700044		2201	4296	6497	SO:0001583	missense	0			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.934A>G	11.37:g.113700044T>C	ENSP00000003302:p.Thr312Ala		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67	p.T312A	ENST00000003302.4	37	c.934	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754482	0.69648	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706;ENST00000537642	T;T;T;T;T;T;T	0.74315	1.41;1.41;0.86;1.41;0.92;-0.83;3.41	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.110606	0.64402	D	0.000007	T	0.76248	0.3961	L	0.39514	1.22	0.42876	D	0.994155	P;P;P;D	0.61080	0.843;0.771;0.592;0.989	P;P;P;P	0.57776	0.462;0.549;0.579;0.827	T	0.72268	-0.4343	10	0.15499	T	0.54	-18.022	15.3591	0.74457	0.0:0.0:0.0:1.0	.	187;312;312;20	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	A	312;312;20;187;76;312;211	ENSP00000003302:T312A;ENSP00000260188:T312A;ENSP00000442431:T20A;ENSP00000444991:T187A;ENSP00000442257:T76A;ENSP00000445743:T312A;ENSP00000440799:T211A	ENSP00000003302:T312A	T	-	1	0	USP28	113205254	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.319000	0.51983	2.020000	0.59435	0.379000	0.24179	ACC	USP28	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000048028		0.453	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	-	0	74	0	T			113700044	-1	tier1	-	no_errors	ENST00000003302	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	C	C	113700044	T	C	113700044	3	2	39	1	0	0	0	0	1	0	0	0	17107	1667	58	4	2363	4	USP28	11	113700044	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	11501184	113700044	21306472	200	9514											
PVRL1	5818	genome.wustl.edu	37	chr11	119535970	119535970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggcaccggcccggcgcgCcgcccatgttcgggaggaga	5	4	18	14	6	0	1	0	0	0	1	1	3	0	2	4	5	0	2	4	5	0	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:119535970C>T	ENST00000264025.3	-	6	1571	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	347					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCCCGGCGCGCCGCCCATGTT	0.672																																																	0													22	26	24					11																	119535970		2198	4289	6487	SO:0001819	synonymous_variant	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1041G>A	11.37:g.119535970C>T			O75465|Q2M3D3|Q9HBE6|Q9HBW2	Silent	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R347	ENST00000264025.3	37	c.1041	CCDS8426.1	11																																																																																			PVRL1	-	NULL	ENSG00000110400		0.672	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	-	0	25	0	C			119535970	-1	tier1	-	no_errors	ENST00000264025	ensembl	human	known	74_37	silent	37.50	15	9	SNP	1.000	T	T	119535970	C	T	119535970	2	4	39	1	0	0	0	0	0	0	0	1	12884	726	26	3		3	PVRL1	11	119535970	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5835926	119535970	15470546	201	9515											
NCAPD3	23310	genome.wustl.edu	37	chr11	134073578	134073578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagctccaggatactctccGacgcactggtaacagtcaac	11	7	10	13	2	2	0	1	0	1	0	4	3	3	2	2	3	4	3	2	3	3	2	rs201688313		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr11:134073578G>A	ENST00000534548.2	-	11	1503	c.1439C>T	c.(1438-1440)tCg>tTg	p.S480L		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	480					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GATACTCTCCGACGCACTGGT	0.488																																																	0								G	LEU/SER	0,4402		0,0,2201	54	54	54		1439	5	0.1	11		54	2,8592	2.2+/-6.3	0,2,4295	yes	missense	NCAPD3	NM_015261.2	145	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign	480/1499	134073578	2,12994	2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1439C>T	11.37:g.134073578G>A	ENSP00000433681:p.Ser480Leu		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.S480L	ENST00000534548.2	37	c.1439	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424113	0.25639	0.0	2.33E-4	ENSG00000151503	ENST00000534548	T	0.60424	0.19	5.88	4.97	0.65823	Armadillo-type fold (1);	0.187442	0.44097	D	0.000495	T	0.42449	0.1203	L	0.34521	1.04	0.21627	N	0.99962	B	0.16396	0.017	B	0.11329	0.006	T	0.13229	-1.0517	10	0.18710	T	0.47	-15.0758	9.9438	0.41596	0.2022:0.0:0.7978:0.0	.	480	P42695	CNDD3_HUMAN	L	480	ENSP00000433681:S480L	ENSP00000431612:S480L	S	-	2	0	NCAPD3	133578788	0.442000	0.25633	0.094000	0.20943	0.006000	0.05464	2.225000	0.42954	2.782000	0.95742	0.655000	0.94253	TCG	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0	63	0	G	NM_015261		134073578	-1	tier1	rs201688313	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	38.10	39	24	SNP	0.007	A	A	134073578	G	A	134073578	3	1	39	1	0	0	0	0	1	0	0	0	10245	1059	37	1	3157	1	NCAPD3	11	134073578	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	14537608	134073578	932938	202	9516											
CACNA1C	775	genome.wustl.edu	37	chr12	2693763	2693763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggaagaggagaaGgagagaaagaagctggccag	18	1	19	3	0	0	4	0	0	0	4	0	10	0	8	1	6	1	1	1	6	5	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:2693763G>T	ENST00000347598.4	+	16	2319	c.2319G>T	c.(2317-2319)aaG>aaT	p.K773N	CACNA1C_ENST00000399649.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K773N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K798N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K773N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K773N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K773N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K773N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.K773N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	773	Poly-Glu.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aagaggagaaggagagaaaga	0.547																																																	0													67	73	71					12																	2693763		1965	4176	6141	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2319G>T	12.37:g.2693763G>T	ENSP00000266376:p.Lys773Asn		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.K773N	ENST00000347598.4	37	c.2319	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779786	0.49891	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96587	-4.0;-4.0;-4.0;-3.99;-4.01;-4.0;-4.03;-3.91;-3.94;-4.0;-3.91;-3.91;-3.99;-4.06;-3.92;-3.84;-4.06;-4.01;-4.0;-4.05;-3.95;-4.04;-4.06	4.71	-1.84	0.07809	.	0.106914	0.64402	D	0.000008	D	0.96027	0.8706	L	0.45051	1.395	0.49213	D	0.999766	D;D;B;D;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.89917	0.998;1.0;0.206;0.993;0.997;1.0;1.0;1.0;0.08;0.09;1.0;1.0;0.165;0.999;0.999;1.0;0.996;0.309;1.0;0.309;0.996;1.0;1.0;0.996;0.989;1.0	D;D;B;D;D;D;D;D;B;B;D;D;B;D;D;D;D;B;D;B;D;D;D;D;D;D	0.91635	0.995;0.996;0.038;0.977;0.995;0.998;0.996;0.998;0.251;0.124;0.998;0.996;0.051;0.999;0.991;0.996;0.99;0.083;0.998;0.083;0.99;0.998;0.998;0.922;0.985;0.996	D	0.93383	0.6745	10	0.49607	T	0.09	.	11.5211	0.50551	0.5258:0.0:0.4742:0.0	.	773;770;773;773;773;773;773;773;773;773;773;773;744;773;773;773;773;773;773;773;773;773;773;773;773;773	Q13936-14;Q13936-35;Q13936;E9PDI6;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	798;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;773;614	ENSP00000336982:K798N;ENSP00000382563:K773N;ENSP00000437936:K773N;ENSP00000382552:K773N;ENSP00000382547:K773N;ENSP00000382506:K773N;ENSP00000382530:K773N;ENSP00000382546:K773N;ENSP00000382500:K773N;ENSP00000382549:K773N;ENSP00000266376:K773N;ENSP00000382515:K773N;ENSP00000382510:K773N;ENSP00000341092:K773N;ENSP00000382537:K773N;ENSP00000329877:K773N;ENSP00000382557:K773N;ENSP00000385724:K773N;ENSP00000382512:K773N;ENSP00000382542:K773N;ENSP00000382526:K773N;ENSP00000385896:K773N;ENSP00000382504:K773N	ENSP00000323129:K614N	K	+	3	2	CACNA1C	2564024	0.998000	0.40836	0.994000	0.49952	0.858000	0.48976	0.399000	0.20916	-0.230000	0.09840	-0.254000	0.11334	AAG	CACNA1C	-	NULL	ENSG00000151067		0.547	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	52	0	G	NM_000719		2693763	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	47.37	30	27	SNP	0.955	T	T	2693763	G	T	2693763	3	4	39	1	0	0	0	0	1	0	0	0	2547	991	35	3	2489	3	CACNA1C	12	2693763	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		2693763	131158132	203	9517											
TULP3	7289	genome.wustl.edu	37	chr12	3000140	3000140	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgcgctgccggctcagTcccagcggcgacaggtcaga	6	6	14	15	5	2	1	2	0	0	1	4	2	3	1	2	3	2	3	2	3	0	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:3000140T>G	ENST00000448120.2	+	1	78	c.27T>G	c.(25-27)agT>agG	p.S9R	TULP3_ENST00000397132.2_Missense_Mutation_p.S9R	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	9					anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCGGCTCAGTCCCAGCGGCG	0.711																																																	0													24	25	25					12																	3000140		2194	4298	6492	SO:0001583	missense	0			AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"Intraflagellar transport homologs"	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.27T>G	12.37:g.3000140T>G	ENSP00000410051:p.Ser9Arg		B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.S9R	ENST00000448120.2	37	c.27	CCDS8519.1	12	.	.	.	.	.	.	.	.	.	.	T	11.07	1.531412	0.27387	.	.	ENSG00000078246	ENST00000228245;ENST00000448120;ENST00000397132	D;D	0.92647	-3.0;-3.08	4.84	-7.46	0.01369	.	1.344630	0.04809	N	0.434862	T	0.80259	0.4590	N	0.14661	0.345	0.21445	N	0.999685	B;B	0.19583	0.037;0.018	B;B	0.15484	0.006;0.013	T	0.67213	-0.5727	10	0.52906	T	0.07	-9.3178	2.658	0.05018	0.1729:0.1145:0.47:0.2425	.	9;9	O75386;F8WBZ9	TULP3_HUMAN;.	R	9	ENSP00000410051:S9R;ENSP00000380321:S9R	ENSP00000228245:S9R	S	+	3	2	TULP3	2870401	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-1.128000	0.03247	-1.554000	0.01700	-0.527000	0.04329	AGT	TULP3	-	NULL	ENSG00000078246		0.711	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TULP3	HGNC	protein_coding	OTTHUMT00000398468.1	-	0	142	0	T	NM_003324		3000140	1	tier1	-	no_errors	ENST00000448120	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.002	G	G	3000140	T	G	3000140	3	3	39	1	0	0	0	0	1	0	0	0	16824	1664	58	4	29	4	TULP3	12	3000140	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	306377	3000140	130851755	204	9518											
EFCAB4B	84766	genome.wustl.edu	37	chr12	3782646	3782646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagttcattcttctcctCatgggcttcttggagctggg	4	15	10	12	0	5	0	2	0	3	0	7	1	6	1	2	3	1	3	2	3	0	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:3782646C>T	ENST00000252322.1	-	7	1105	c.637G>A	c.(637-639)Gag>Aag	p.E213K	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.E213K|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.E213K	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		213					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTCTTCTCCTCATGGGCTTCT	0.488																																																	0													148	141	143					12																	3782646		2203	4300	6503	SO:0001583	missense	0																														ENST00000252322.1:c.637G>A	12.37:g.3782646C>T	ENSP00000252322:p.Glu213Lys		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.E213K	ENST00000252322.1	37	c.637	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	C	2.504	-0.314450	0.05422	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.22134	1.97;2.57;2.59	4.55	1.16	0.20824	.	0.507841	0.21131	N	0.079650	T	0.13114	0.0318	L	0.41824	1.3	0.24682	N	0.993353	B;B;B	0.22003	0.013;0.063;0.003	B;B;B	0.15484	0.007;0.013;0.003	T	0.35151	-0.9800	10	0.08179	T	0.78	-8.2697	8.9877	0.36003	0.0:0.6892:0.0:0.3108	.	213;213;213	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	K	213	ENSP00000409382:E213K;ENSP00000412496:E213K;ENSP00000252322:E213K	ENSP00000252322:E213K	E	-	1	0	EFCAB4B	3652907	0.875000	0.30112	0.525000	0.27900	0.561000	0.35649	1.339000	0.33885	0.361000	0.24292	0.650000	0.86243	GAG	EFCAB4B	-	NULL	ENSG00000130038		0.488	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	-	0	65	0	C			3782646	-1	tier1	-	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	6.52	86	6	SNP	0.810	T	T	3782646	C	T	3782646	3	4	39	1	0	0	0	0	1	0	0	0	4951	835	29	3	1806	3	EFCAB4B	12	3782646	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	782506	3782646	130069249	205	9519											
PARP11	57097	genome.wustl.edu	37	chr12	3935364	3935364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggctctttttattaagcGctgctttccagtggtgagat	6	15	13	7	1	1	1	0	1	1	1	2	2	2	1	1	3	2	3	1	3	2	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:3935364G>T	ENST00000228820.4	-	4	448	c.304C>A	c.(304-306)Cgc>Agc	p.R102S	PARP11_ENST00000447133.3_Missense_Mutation_p.R21S|PARP11_ENST00000427057.2_Missense_Mutation_p.R21S|PARP11_ENST00000397096.2_Missense_Mutation_p.R95S	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	95							NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTTATTAAGCGCTGCTTTCCA	0.358																																																	0													131	139	136					12																	3935364		2203	4300	6503	SO:0001583	missense	0			AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"Poly (ADP-ribose) polymerases"	1186	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 6"	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.304C>A	12.37:g.3935364G>T	ENSP00000228820:p.Arg102Ser		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.R102S	ENST00000228820.4	37	c.304	CCDS8523.2	12	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910903	0.72983	.	.	ENSG00000111224	ENST00000397096;ENST00000427057;ENST00000228820;ENST00000447133	T;T;T;T	0.58506	0.33;1.83;0.33;1.83	5.32	5.32	0.75619	WWE domain (2);	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.78456	2.415	0.53005	D	0.999969	D;D;D	0.89917	1.0;0.993;0.994	D;D;D	0.83275	0.996;0.927;0.957	T	0.74194	-0.3744	10	0.46703	T	0.11	.	11.4286	0.50027	0.0:0.0:0.8203:0.1797	.	21;102;95	Q9NR21-2;Q9NR21-4;Q9NR21	.;.;PAR11_HUMAN	S	95;21;102;21	ENSP00000380284:R95S;ENSP00000397058:R21S;ENSP00000228820:R102S;ENSP00000405385:R21S	ENSP00000228820:R102S	R	-	1	0	PARP11	3805625	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.305000	0.59110	2.773000	0.95371	0.655000	0.94253	CGC	PARP11	-	pfam_WWE-dom,pfscan_WWE-dom	ENSG00000111224		0.358	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP11	HGNC	protein_coding	OTTHUMT00000344213.1		0	51	0	G			3935364	-1			no_errors	ENST00000228820	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	3935364	G	T	3935364	3	4	39	1	0	0	0	0	1	0	0	0	11495	1087	38	2	732	2	PARP11	12	3935364	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	152718	3935364	129916531	206	9520											
ANO2	57101	genome.wustl.edu	37	chr12	5848531	5848531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtagcccagtcgcatCtgtagcctcttccagttttc	9	12	7	13	1	2	0	0	0	2	0	5	0	3	0	3	0	2	4	3	0	4	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:5848531C>A	ENST00000356134.5	-	14	1448	c.1377G>T	c.(1375-1377)caG>caT	p.Q459H	ANO2_ENST00000546188.1_Missense_Mutation_p.Q459H|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000327087.8_Missense_Mutation_p.Q458H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	463					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCAGTCGCATCTGTAGCCTCT	0.418																																																	0													64	64	64					12																	5848531		1889	4122	6011	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1377G>T	12.37:g.5848531C>A	ENSP00000348453:p.Gln459His		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.Q459H	ENST00000356134.5	37	c.1377		12	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748836	0.69533	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.72	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.83603	2.65	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.81988	-0.0680	10	0.62326	D	0.03	.	10.165	0.42875	0.0:0.8329:0.0:0.1671	.	458	Q9NQ90-3	.	H	458;459;459;463;22	ENSP00000314048:Q458H;ENSP00000348453:Q459H;ENSP00000440981:Q459H;ENSP00000443813:Q22H	ENSP00000314048:Q458H	Q	-	3	2	ANO2	5718792	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.180000	0.50895	1.201000	0.43203	0.561000	0.74099	CAG	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.418	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0	57	0	C	NM_020373		5848531	-1	tier1	-	no_errors	ENST00000356134	ensembl	human	known	74_37	missense	6.67	55	4	SNP	1.000	A	A	5848531	C	A	5848531	3	1	39	1	0	0	0	0	1	0	0	0	697	912	32	3	1678	3	ANO2	12	5848531	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1913167	5848531	128003364	207	9521											
VWF	7450	genome.wustl.edu	37	chr12	6132813	6132813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacggcacaatgtggccgtCctccaggtcaccaccttgcc	7	8	9	17	2	2	0	2	0	0	0	4	0	4	0	6	3	1	1	6	3	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:6132813C>T	ENST00000261405.5	-	25	3617	c.3363G>A	c.(3361-3363)agG>agA	p.R1121R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1121					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATGTGGCCGTCCTCCAGGTCA	0.587																																																	0													71	63	66					12																	6132813		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3363G>A	12.37:g.6132813C>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.R1121	ENST00000261405.5	37	c.3363	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000110799		0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	235	0	C	NM_000552		6132813	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	33.73	112	57	SNP	1.000	T	T	6132813	C	T	6132813	2	4	39	1	0	0	0	0	0	0	0	1	17295	854	30	3		3	VWF	12	6132813	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	284282	6132813	127719082	208	9522											
CD163L1	283316	genome.wustl.edu	37	chr12	7528563	7528563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtttcacttcaacacGtccagagcagggcatatcag	11	10	9	11	1	3	1	3	0	0	1	4	1	4	1	1	1	3	4	1	1	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:7528563G>T	ENST00000313599.3	-	10	2476	c.2419C>A	c.(2419-2421)Cgt>Agt	p.R807S	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.R817S|CD163L1_ENST00000396630.1_Missense_Mutation_p.R807S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	807	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.R807C(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTTCAACACGTCCAGAGCAG	0.448																																																	1	Substitution - Missense(1)	breast(1)											77	78	78					12																	7528563		2203	4300	6503	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2419C>A	12.37:g.7528563G>T	ENSP00000315945:p.Arg807Ser		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.R807S	ENST00000313599.3	37	c.2419	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032013	0.54790	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.35789	1.29;1.29;1.29	2.84	0.654	0.17833	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.282600	0.22410	U	0.060430	T	0.64994	0.2649	H	0.98048	4.135	0.24444	N	0.994514	D;D	0.69078	0.997;0.992	D;D	0.68765	0.96;0.96	T	0.55444	-0.8140	10	0.66056	D	0.02	.	3.2598	0.06845	0.1501:0.0:0.4665:0.3835	.	817;807	E7EVK4;Q9NR16	.;C163B_HUMAN	S	807;817;807	ENSP00000315945:R807S;ENSP00000393474:R817S;ENSP00000379871:R807S	ENSP00000315945:R807S	R	-	1	0	CD163L1	7419830	0.044000	0.20184	0.109000	0.21407	0.311000	0.27955	2.135000	0.42112	0.503000	0.28060	0.455000	0.32223	CGT	CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177675		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1		0	17	0	G	NM_174941		7528563	-1			no_errors	ENST00000313599	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.824	T	T	7528563	G	T	7528563	3	4	39	1	0	0	0	0	1	0	0	0	2975	1145	40	2	1982	2	CD163L1	12	7528563	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1395750	7528563	126323332	209	9523											
OVCH1	341350	genome.wustl.edu	37	chr12	29596332	29596332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaatccttcgtaaacaCgcagatgaccatgacagaca	15	7	7	12	2	0	4	0	2	0	2	3	4	2	4	3	0	1	2	3	0	3	2	rs370805015		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:29596332C>T	ENST00000318184.5	-	25	3118	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	1040						extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTCGTAAACACGCAGATGACC	0.358																																																	0								C	HIS/ARG	1,3659		0,1,1829	137	137	137		3119	-0.4	0	12		137	0,8176		0,0,4088	no	missense	OVCH1	NM_183378.2	29	0,1,5917	TT,TC,CC		0.0,0.0273,0.0084	benign	1040/1135	29596332	1,11835	1830	4088	5918	SO:0001583	missense	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.3119G>A	12.37:g.29596332C>T	ENSP00000326708:p.Arg1040His			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R1040H	ENST00000318184.5	37	c.3119		12	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.108045	0.00353	2.73E-4	0.0	ENSG00000187950	ENST00000318184;ENST00000537054	T;T	0.34859	1.34;2.08	2.53	-0.448	0.12230	CUB (2);	.	.	.	.	T	0.14787	0.0357	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31475	-0.9942	9	0.14656	T	0.56	.	5.3874	0.16226	0.195:0.6745:0.0:0.1305	.	1040	Q7RTY7	OVCH1_HUMAN	H	1040;65	ENSP00000326708:R1040H;ENSP00000445480:R65H	ENSP00000326708:R1040H	R	-	2	0	OVCH1	29487599	0.000000	0.05858	0.006000	0.13384	0.001000	0.01503	-0.313000	0.08103	-0.108000	0.12066	-0.907000	0.02831	CGT	OVCH1	-	superfamily_CUB_dom	ENSG00000187950		0.358	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	-	0	47	0	C	NM_183378		29596332	-1	tier1	-	no_errors	ENST00000318184	ensembl	human	known	74_37	missense	31.03	60	27	SNP	0.007	T	T	29596332	C	T	29596332	3	4	39	1	0	0	0	0	1	0	0	0	11362	536	19	1	301	1	OVCH1	12	29596332	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	22067769	29596332	104255563	210	9524											
LRRK2	120892	genome.wustl.edu	37	chr12	40693029	40693029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgaggcttgtcctaaagtgGagagtttcagtgccagaatg	10	12	13	6	0	1	3	1	1	0	2	2	4	2	3	2	2	1	2	2	2	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:40693029G>C	ENST00000298910.7	+	25	3524	c.3466G>C	c.(3466-3468)Gag>Cag	p.E1156Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.E1156Q	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1156					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCCTAAAGTGGAGAGTTTCAG	0.428																																																	0													177	189	185					12																	40693029		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3466G>C	12.37:g.40693029G>C	ENSP00000298910:p.Glu1156Gln		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.E1156Q	ENST00000298910.7	37	c.3466	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357275	0.82243	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25085	2.18;1.82	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	N	0.16066	0.365	0.53688	D	0.999972	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.886	T	0.32295	-0.9912	10	0.44086	T	0.13	.	18.5602	0.91097	0.0:0.0:1.0:0.0	.	1156;1156	E9PC85;Q5S007	.;LRRK2_HUMAN	Q	1156	ENSP00000341930:E1156Q;ENSP00000298910:E1156Q	ENSP00000298910:E1156Q	E	+	1	0	LRRK2	38979296	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.812000	0.86109	2.360000	0.80028	0.313000	0.20887	GAG	LRRK2	-	NULL	ENSG00000188906		0.428	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	64	0	G	XM_058513		40693029	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	38.89	44	28	SNP	1.000	C	C	40693029	G	C	40693029	3	2	39	1	0	0	0	0	1	0	0	0	9068	1175	41	5	3564	5	LRRK2	12	40693029	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	11096697	40693029	93158866	211	9525											
MAP3K12	7786	genome.wustl.edu	37	chr12	53877411	53877411	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagctccctctccttGagttccagctgcaacatgag	8	10	9	14	0	1	3	0	3	1	0	4	3	3	3	3	0	5	5	3	0	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:53877411G>T	ENST00000267079.2	-	10	1581	c.1356C>A	c.(1354-1356)ctC>ctA	p.L452L	MAP3K12_ENST00000547035.1_Silent_p.L485L|MAP3K12_ENST00000547488.1_Silent_p.L485L|MAP3K12_ENST00000547151.1_5'Flank	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	452	Leucine-zipper 2.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.L452L(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCCTCTCCTTGAGTTCCAGCT	0.552																																																	1	Substitution - coding silent(1)	NS(1)											158	138	145					12																	53877411		2203	4300	6503	SO:0001819	synonymous_variant	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.1356C>A	12.37:g.53877411G>T			B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Silent	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L452	ENST00000267079.2	37	c.1356	CCDS8860.1	12																																																																																			MAP3K12	-	pirsf_MAP3K12_MAP3K13	ENSG00000139625		0.552	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1		0	13	0	G	NM_006301		53877411	-1			no_errors	ENST00000267079	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.999	T	T	53877411	G	T	53877411	2	4	39	1	0	0	0	0	0	0	0	1	9284	1277	45	3		3	MAP3K12	12	53877411	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	13184382	53877411	79974484	212	9526											
NEUROD4	58158	genome.wustl.edu	37	chr12	55420674	55420674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactggccagacacctgaaGggaaaggctttgtggagatg	12	7	15	7	0	0	4	0	1	0	3	0	6	0	5	2	4	0	1	2	4	2	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:55420674G>T	ENST00000242994.3	+	2	829	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	151					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G151R(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GACACCTGAAGGGAAAGGCTT	0.507																																																	1	Substitution - Missense(1)	endometrium(1)											59	62	61					12																	55420674		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.451G>T	12.37:g.55420674G>T	ENSP00000242994:p.Gly151Trp		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.G151W	ENST00000242994.3	37	c.451	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951607	0.53186	.	.	ENSG00000123307	ENST00000242994	T	0.63744	-0.06	5.7	5.7	0.88788	Neurogenic differentiation factor, domain of unknown function (1);Helix-loop-helix DNA-binding (1);	0.046027	0.85682	D	0.000000	T	0.71117	0.3302	L	0.44542	1.39	0.46954	D	0.999267	D	0.63046	0.992	D	0.72338	0.977	T	0.70475	-0.4861	10	0.52906	T	0.07	-36.8277	12.637	0.56689	0.0:0.0:0.8348:0.1652	.	151	Q9HD90	NDF4_HUMAN	W	151	ENSP00000242994:G151W	ENSP00000242994:G151W	G	+	1	0	NEUROD4	53706941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.841000	0.55850	2.861000	0.98227	0.655000	0.94253	GGG	NEUROD4	-	pfam_Neurogenic_DUF,superfamily_bHLH_dom,pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.507	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1		0	25	0	G			55420674	1			no_errors	ENST00000242994	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	55420674	G	T	55420674	3	4	39	1	0	0	0	0	1	0	0	0	10389	1000	35	3	453	3	NEUROD4	12	55420674	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1543263	55420674	78431221	213	9527											
MYO1A	4640	genome.wustl.edu	37	chr12	57435072	57435072	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattgctcaaagctattatCctgagagagggagcacaggt	14	9	11	7	0	1	2	1	1	0	1	2	4	2	3	1	2	3	3	1	2	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:57435072C>A	ENST00000442789.2	-	15	1452	c.1165G>T	c.(1165-1167)Gat>Tat	p.D389Y	MYO1A_ENST00000476795.1_5'Flank|MYO1A_ENST00000300119.3_Splice_Site_p.D389Y|MYO1A_ENST00000544473.1_Splice_Site_p.D227Y	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	389	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AAGCTATTATCCTGAGAGAGG	0.498																																																	0													89	85	86					12																	57435072		2203	4300	6503	SO:0001630	splice_region_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"Myosins / Myosin superfamily : Class I"	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1165-1G>T	12.37:g.57435072C>A			Q9UQD7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.D389Y	ENST00000442789.2	37	c.1165	CCDS8929.1	12	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796842	0.70567	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	D;D;D	0.87491	-2.26;-2.26;-2.26	5.41	2.51	0.30379	Myosin head, motor domain (3);	0.231431	0.42420	D	0.000708	D	0.85344	0.5675	L	0.28740	0.885	0.48511	D	0.99966	D	0.52996	0.957	P	0.57057	0.812	D	0.83462	0.0054	10	0.72032	D	0.01	.	8.5274	0.33313	0.0:0.7335:0.0:0.2665	.	389	Q9UBC5	MYO1A_HUMAN	Y	389;389;227	ENSP00000300119:D389Y;ENSP00000393392:D389Y;ENSP00000440514:D227Y	ENSP00000300119:D389Y	D	-	1	0	MYO1A	55721339	1.000000	0.71417	0.998000	0.56505	0.752000	0.42762	2.064000	0.41432	0.323000	0.23307	0.491000	0.48974	GAT	MYO1A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000166866		0.498	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	-	0	26	0	C	NM_005379	Missense_Mutation	57435072	-1	tier1	-	no_errors	ENST00000300119	ensembl	human	known	74_37	missense	10.00	35	4	SNP	1.000	A	A	57435072	C	A	57435072	5	1	39	1	0	0	0	0	0	0	1	0	10106	869	30	3	2026	3	MYO1A	12	57435072	Splice_Site	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2014398	57435072	76416823	214	9528											
GLI1	2735	genome.wustl.edu	37	chr12	57860033	57860033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctcagcacatcaacaGcgagcacatccacggggagc	11	5	9	16	2	3	0	2	0	1	0	5	2	4	1	2	2	5	2	2	2	1	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:57860033G>A	ENST00000228682.2	+	8	864	c.773G>A	c.(772-774)aGc>aAc	p.S258N	GLI1_ENST00000543426.1_Missense_Mutation_p.S130N|GLI1_ENST00000546141.1_Missense_Mutation_p.S217N	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	258					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACATCAACAGCGAGCACATC	0.597																																					Pancreas(157;841 1936 10503 41495 50368)												0													181	177	178					12																	57860033		2203	4300	6503	SO:0001583	missense	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.773G>A	12.37:g.57860033G>A	ENSP00000228682:p.Ser258Asn		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S258N	ENST00000228682.2	37	c.773	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	0.453	-0.892981	0.02491	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.03	4.03	0.46877	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.109197	0.39759	N	0.001265	T	0.64659	0.2618	N	0.00223	-1.815	0.40369	D	0.97932	B	0.06786	0.001	B	0.08055	0.003	T	0.69442	-0.5144	10	0.02654	T	1	.	6.2844	0.21025	0.2068:0.0:0.7932:0.0	.	258	P08151	GLI1_HUMAN	N	130;130;258;217;217;130	ENSP00000436671:S130N;ENSP00000437607:S130N;ENSP00000228682:S258N;ENSP00000441006:S217N;ENSP00000434408:S217N	ENSP00000228682:S258N	S	+	2	0	GLI1	56146300	1.000000	0.71417	0.997000	0.53966	0.220000	0.24768	6.146000	0.71777	2.247000	0.74100	0.591000	0.81541	AGC	GLI1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000111087		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	-	0	61	0	G	NM_005269		57860033	1	tier1	-	no_errors	ENST00000228682	ensembl	human	known	74_37	missense	46.00	27	23	SNP	1.000	A	A	57860033	G	A	57860033	3	1	39	1	0	0	0	0	1	0	0	0	6463	971	34	3	799	3	GLI1	12	57860033	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	424961	57860033	75991862	215	9529											
C12orf66	144577	genome.wustl.edu	37	chr12	64609598	64609598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacaaagaagcagagctgCtctgacaggtgggaaaggag	15	5	15	6	0	1	4	0	2	1	2	1	6	1	6	0	3	4	3	0	3	4	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:64609598C>T	ENST00000398055.3	-	2	434	c.381G>A	c.(379-381)gaG>gaA	p.E127E	C12orf66_ENST00000544871.1_Silent_p.E74E|C12orf66_ENST00000311915.8_Silent_p.E127E	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	127										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGCAGAGCTGCTCTGACAGGT	0.517																																																	0													60	63	62					12																	64609598		2041	4202	6243	SO:0001819	synonymous_variant	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.381G>A	12.37:g.64609598C>T			C9JX54|Q8IYA0	Silent	SNP	pfam_DUF2003	p.E127	ENST00000398055.3	37	c.381	CCDS41803.1	12																																																																																			C12orf66	-	pfam_DUF2003	ENSG00000174206		0.517	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0	58	0	C	NM_152440		64609598	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	silent	46.15	21	18	SNP	1.000	T	T	64609598	C	T	64609598	2	4	39	1	0	0	0	0	0	0	0	1	1714	796	28	3		3	C12orf66	12	64609598	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	6749565	64609598	69242297	216	9530											
HELB	92797	genome.wustl.edu	37	chr12	66718883	66718883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcgcataaaacatgcatggGcaagaactattcacactttt	14	11	7	9	1	1	1	1	0	0	1	2	1	1	1	0	1	3	3	0	1	5	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:66718883G>A	ENST00000247815.4	+	11	2706	c.2647G>A	c.(2647-2649)Gca>Aca	p.A883T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	883					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACATGCATGGGCAAGAACTAT	0.338																																																	0													102	102	102					12																	66718883		2203	4300	6503	SO:0001583	missense	0			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2647G>A	12.37:g.66718883G>A	ENSP00000247815:p.Ala883Thr		A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.A883T	ENST00000247815.4	37	c.2647	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080044	0.76528	.	.	ENSG00000127311	ENST00000247815	T	0.35789	1.29	5.42	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.85041	2.73	0.45161	D	0.998176	D	0.69078	0.997	D	0.68943	0.961	T	0.66925	-0.5800	9	.	.	.	-25.4639	15.1946	0.73078	0.0715:0.0:0.9285:0.0	.	883	Q8NG08	HELB_HUMAN	T	883	ENSP00000247815:A883T	.	A	+	1	0	HELB	65005150	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.704000	0.84595	2.711000	0.92665	0.609000	0.83330	GCA	HELB	-	superfamily_P-loop_NTPase	ENSG00000127311		0.338	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1		0	68	0	G			66718883	1			no_errors	ENST00000247815	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	66718883	G	A	66718883	3	1	39	1	0	0	0	0	1	0	0	0	7072	1203	42	3	2689	3	HELB	12	66718883	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2109285	66718883	67133012	217	9531											
E2F7	144455	genome.wustl.edu	37	chr12	77421782	77421783	+	Frame_Shift_Del	DEL	AG	AG	-																															ttccccactcagaagaaacaAgagagtttgctgttgccttt																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:77421782_77421783delAG	ENST00000322886.7	-	11	2255_2256	c.2020_2021delCT	c.(2020-2022)cttfs	p.L674fs	E2F7_ENST00000416496.2_Frame_Shift_Del_p.L674fs	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	674					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AGAAGAAACAAGAGAGTTTGCT	0.416																																																	0																																										SO:0001589	frameshift_variant	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2020_2021delCT	12.37:g.77421786_77421787delAG	ENSP00000323246:p.Leu674fs		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Frame_Shift_Del	DEL	pfam_E2F_TDP	p.L674fs	ENST00000322886.7	37	c.2021_2020	CCDS9016.1	12																																																																																			E2F7	-	NULL	ENSG00000165891		0.416	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1		0	48	0	AG	XM_084871		77421783	-1	tier1		no_errors	ENST00000322886	ensembl	human	known	74_37	frame_shift_del	24.32	28	9	DEL	0.000:0.000	-	-	77421783	AG	-	77421782	7	5	39	1	0	1	0	1	0	0	0	0	4886	72	3	0	726	0	E2F7	12	77421782	Frame_Shift_Del	DEL	AG	TCGA-JY-A6FG-01A-11D-A33E-09	10702899	77421782	56430113	218	9532											
IGF1	3479	genome.wustl.edu	37	chr12	102813302	102813302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttctgggtcttgggCatgtcggtgtggcgctgggc	2	13	16	10	2	2	0	0	0	2	0	3	0	2	0	1	5	1	2	1	5	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:102813302C>A	ENST00000307046.8	-	3	568	c.387G>T	c.(385-387)atG>atT	p.M129I	IGF1_ENST00000392904.1_Missense_Mutation_p.M129I|IGF1_ENST00000424202.2_Missense_Mutation_p.M113I|IGF1_ENST00000456098.1_Missense_Mutation_p.M129I|IGF1_ENST00000337514.6_Missense_Mutation_p.M129I	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	129					blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GGGTCTTGGGCATGTCGGTGT	0.602																																																	0													83	85	84					12																	102813302		2203	4300	6503	SO:0001583	missense	0			X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"Endogenous ligands"	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.387G>T	12.37:g.102813302C>A	ENSP00000302665:p.Met129Ile		B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF-I,prints_Insulin_family,prints_Insulin-like_growth_factor	p.M129I	ENST00000307046.8	37	c.387	CCDS44962.1	12	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474098	0.43942	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.96554	-4.01;-4.05;-4.01;-4.05;-3.99;-3.07	5.85	4.96	0.65561	.	0.195107	0.64402	D	0.000007	D	0.93135	0.7814	L	0.34521	1.04	0.45150	D	0.998163	B;B;B;B	0.22480	0.0;0.07;0.07;0.017	B;B;B;B	0.18263	0.001;0.021;0.021;0.02	D	0.89859	0.4015	10	0.31617	T	0.26	-13.011	16.9944	0.86362	0.0:0.8725:0.1275:0.0	.	129;160;113;129	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	I	129;129;129;113;110;129	ENSP00000394999:M129I;ENSP00000337612:M129I;ENSP00000376637:M129I;ENSP00000416811:M113I;ENSP00000376638:M110I;ENSP00000302665:M129I	ENSP00000302665:M129I	M	-	3	0	IGF1	101337432	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	2.973000	0.49264	1.448000	0.47680	0.655000	0.94253	ATG	IGF1	-	prints_IGF-I	ENSG00000017427		0.602	IGF1-002	KNOWN	basic|CCDS	protein_coding	IGF1	HGNC	protein_coding	OTTHUMT00000313855.1	-	0	39	0	C	NM_000618		102813302	-1	tier1	-	no_errors	ENST00000307046	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	A	A	102813302	C	A	102813302	3	1	39	1	0	0	0	0	1	0	0	0	7597	710	25	3	272	3	IGF1	12	102813302	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	25391520	102813302	31038593	219	9533											
PWP1	11137	genome.wustl.edu	37	chr12	108082471	108082471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgcacgcacccaggcaCgcccaagagagcccctggag	11	2	13	15	2	0	2	0	0	0	2	0	4	0	3	4	2	2	3	4	2	1	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:108082471C>T	ENST00000412830.3	+	3	379	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	PWP1_ENST00000541166.1_Missense_Mutation_p.R9C	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	71					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R71C(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CACCCAGGCACGCCCAAGAGA	0.517																																																	1	Substitution - Missense(1)	urinary_tract(1)											127	119	122					12																	108082471		2203	4300	6503	SO:0001583	missense	0			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.211C>T	12.37:g.108082471C>T	ENSP00000387365:p.Arg71Cys		A8K3R6|Q7Z3X9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R71C	ENST00000412830.3	37	c.211	CCDS9114.1	12	.	.	.	.	.	.	.	.	.	.	.	13.05	2.120282	0.37436	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.70986	-0.5;-0.53	5.69	3.72	0.42706	.	0.943772	0.08976	N	0.866472	T	0.47192	0.1432	N	0.14661	0.345	0.09310	N	1	P	0.40931	0.733	B	0.31547	0.132	T	0.41251	-0.9519	10	0.59425	D	0.04	.	4.1737	0.10341	0.1527:0.4813:0.2842:0.0819	.	71	Q13610	PWP1_HUMAN	C	71;9;71;71;71;9	ENSP00000387365:R71C;ENSP00000445249:R9C	ENSP00000258531:R71C	R	+	1	0	PWP1	106606601	0.001000	0.12720	0.032000	0.17829	0.926000	0.56050	1.070000	0.30653	1.354000	0.45846	0.478000	0.44815	CGC	PWP1	-	NULL	ENSG00000136045		0.517	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP1	HGNC	protein_coding	OTTHUMT00000406539.1	-	0	35	0	C	NM_007062		108082471	1	tier1	-	no_errors	ENST00000412830	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.000	T	T	108082471	C	T	108082471	3	4	39	1	0	0	0	0	1	0	0	0	12888	536	19	1	221	1	PWP1	12	108082471	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5269169	108082471	25769424	220	9534											
GIT2	9815	genome.wustl.edu	37	chr12	110399130	110399130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaccggaagaaaggggaCgaccgttgtctcggttacca	11	8	13	9	4	1	2	0	1	1	1	2	5	1	4	3	4	1	2	3	4	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:110399130C>T	ENST00000355312.3	-	11	939	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GIT2_ENST00000551209.1_Missense_Mutation_p.V313I|GIT2_ENST00000343646.5_Missense_Mutation_p.V314I|GIT2_ENST00000360185.4_Missense_Mutation_p.V314I|GIT2_ENST00000361006.5_Missense_Mutation_p.V314I|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.V316I|GIT2_ENST00000547815.1_Missense_Mutation_p.V314I|GIT2_ENST00000356259.4_Missense_Mutation_p.V314I|GIT2_ENST00000338373.5_Missense_Mutation_p.V314I|GIT2_ENST00000320063.9_Missense_Mutation_p.V314I|GIT2_ENST00000354574.4_Missense_Mutation_p.V316I|GIT2_ENST00000553118.1_Missense_Mutation_p.V314I	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	314					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						AGAAAGGGGACGACCGTTGTC	0.522																																																	0													141	102	115					12																	110399130		2203	4300	6503	SO:0001583	missense	0			AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"ADP-ribosylation factor GTPase activating proteins", "Ankyrin repeat domain containing"	4273	protein-coding gene	gene with protein product		608564	"G protein-coupled receptor kinase interactor 2"			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.940G>A	12.37:g.110399130C>T	ENSP00000347464:p.Val314Ile		Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP	p.V314I	ENST00000355312.3	37	c.940	CCDS9138.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.376649	0.95945	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000338373;ENST00000343646;ENST00000356259;ENST00000457474;ENST00000361006;ENST00000553118;ENST00000551209;ENST00000542273;ENST00000547815;ENST00000320063	T;T;T;T;T;T;T;T;T;T;T;T	0.75154	-0.91;-0.75;-0.69;-0.72;-0.77;-0.75;-0.67;-0.89;-0.78;-0.77;-0.72;-0.71	5.72	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.69823	2.125	0.80722	D	1	P;P;D;D;D;P;D	0.61080	0.703;0.82;0.987;0.987;0.987;0.947;0.989	B;B;P;P;P;P;P	0.57548	0.219;0.298;0.53;0.53;0.677;0.557;0.823	D	0.84350	0.0532	10	0.62326	D	0.03	.	14.3366	0.66595	0.0:0.9287:0.0:0.0713	.	314;314;316;316;314;314;314	B4E2E7;Q6FI58;Q14161-10;F8WAK2;Q14161-11;Q14161;Q14161-5	.;.;.;.;.;GIT2_HUMAN;.	I	314;314;316;314;314;314;316;314;314;313;252;314;314	ENSP00000347464:V314I;ENSP00000353312:V314I;ENSP00000346585:V316I;ENSP00000340342:V314I;ENSP00000340938:V314I;ENSP00000348595:V314I;ENSP00000391813:V316I;ENSP00000354282:V314I;ENSP00000447465:V314I;ENSP00000448832:V313I;ENSP00000450348:V314I;ENSP00000323833:V314I	ENSP00000323833:V314I	V	-	1	0	GIT2	108883513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	1.561000	0.49584	0.655000	0.94253	GTC	GIT2	-	NULL	ENSG00000139436		0.522	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIT2	HGNC	protein_coding	OTTHUMT00000403407.1	-	0	70	0	C	NM_057169		110399130	-1	tier1	-	no_errors	ENST00000355312	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	110399130	C	T	110399130	3	4	39	1	0	0	0	0	1	0	0	0	6423	536	19	1	1407	1	GIT2	12	110399130	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2316659	110399130	23452765	221	9535											
PSMD9	5715	genome.wustl.edu	37	chr12	122332686	122332686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgctggtggactgtgaGggctacccccggtcagacgt	6	7	16	12	3	1	2	1	1	0	1	1	4	1	3	3	4	2	2	3	4	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:122332686G>T	ENST00000541212.1	+	2	306	c.180G>T	c.(178-180)gaG>gaT	p.E60D	RP11-87C12.2_ENST00000546333.1_Missense_Mutation_p.E60D|PSMD9_ENST00000542602.1_Intron|PSMD9_ENST00000340175.5_Missense_Mutation_p.E60D|PSMD9_ENST00000261817.2_Missense_Mutation_p.E60D			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGGACTGTGAGGGCTACCCCC	0.542											OREG0022210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94	74	80					12																	122332686		2203	4300	6503	SO:0001583	missense	0			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"Proteasome (prosome, macropain) subunits"	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.180G>T	12.37:g.122332686G>T	ENSP00000440485:p.Glu60Asp	1518	B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.E60D	ENST00000541212.1	37	c.180	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081275	0.55753	.	.	ENSG00000110801	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000538613	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.95	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	L	0.49256	1.55	0.58432	D	0.999995	P;D	0.52996	0.839;0.957	P;P	0.51974	0.686;0.542	T	0.02333	-1.1175	10	0.31617	T	0.26	-41.9954	8.813	0.34978	0.2792:0.0:0.7208:0.0	.	60;60	F8W7V8;O00233	.;PSMD9_HUMAN	D	60	ENSP00000440485:E60D;ENSP00000340847:E60D;ENSP00000261817:E60D;ENSP00000443081:E60D	ENSP00000261817:E60D	E	+	3	2	PSMD9	120817069	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.230000	0.42999	0.864000	0.35578	-0.150000	0.13652	GAG	PSMD9	-	NULL	ENSG00000110801		0.542	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1		0	76	0	G	NM_002813		122332686	1			no_errors	ENST00000541212	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	122332686	G	T	122332686	3	4	39	1	0	0	0	0	1	0	0	0	12747	991	35	3	186	3	PSMD9	12	122332686	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	11933556	122332686	11519209	222	9536											
LRRC43	254050	genome.wustl.edu	37	chr12	122676049	122676049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacttacaactattacGtgacctatgattttgtgaaa	13	15	5	8	1	2	3	2	3	0	0	2	3	2	3	1	0	3	0	1	0	6	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr12:122676049G>A	ENST00000339777.4	+	6	1052	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	LRRC43_ENST00000425921.1_Missense_Mutation_p.V157M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	342										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CAACTATTACGTGACCTATGA	0.542											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													81	81	81					12																	122676049		1906	4111	6017	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1024G>A	12.37:g.122676049G>A	ENSP00000344233:p.Val342Met	1520	Q6ZVT9	Missense_Mutation	SNP	NULL	p.V342M	ENST00000339777.4	37	c.1024	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663068	0.67700	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.69175	-0.38;0.09	5.39	5.39	0.77823	.	0.085942	0.48767	D	0.000178	T	0.79811	0.4510	L	0.57536	1.79	0.46478	D	0.999069	D	0.89917	1.0	D	0.87578	0.998	T	0.78112	-0.2331	9	.	.	.	-47.0621	18.772	0.91896	0.0:0.0:1.0:0.0	.	342	Q8N309	LRC43_HUMAN	M	342;213;157	ENSP00000344233:V342M;ENSP00000416628:V157M	.	V	+	1	0	LRRC43	121242002	1.000000	0.71417	0.989000	0.46669	0.266000	0.26442	6.804000	0.75186	2.548000	0.85928	0.591000	0.81541	GTG	LRRC43	-	NULL	ENSG00000158113		0.542	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	-	0	73	0	G	NM_152759		122676049	1	tier1	-	no_errors	ENST00000339777	ensembl	human	known	74_37	missense	56.76	32	42	SNP	1.000	A	A	122676049	G	A	122676049	3	1	39	1	0	0	0	0	1	0	0	0	9036	1145	40	1	1046	1	LRRC43	12	122676049	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	343363	122676049	11175846	223	9537											
IFT88	8100	genome.wustl.edu	37	chr13	21265270	21265270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaaggatcgatgaggatGattttgctgatgaagaatta	16	11	12	2	1	0	6	0	4	0	2	1	9	0	8	0	2	1	1	0	2	5	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr13:21265270G>A	ENST00000319980.6	+	28	2785	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	IFT88_ENST00000382778.4_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.D811N|IFT88_ENST00000537103.1_Missense_Mutation_p.D792N	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	820					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CGATGAGGATGATTTTGCTGA	0.383																																																	0													85	89	87					13																	21265270		2203	4300	6503	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2458G>A	13.37:g.21265270G>A	ENSP00000323580:p.Asp820Asn		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D820N	ENST00000319980.6	37	c.2458	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.267016	0.95399	.	.	ENSG00000032742	ENST00000351808;ENST00000319980;ENST00000537103	T;T;T	0.76316	-1.01;-1.01;-1.01	5.56	5.56	0.83823	.	0.161114	0.53938	D	0.000051	T	0.80696	0.4672	M	0.62723	1.935	0.80722	D	1	B;P	0.46395	0.103;0.877	B;P	0.45829	0.025;0.494	T	0.83050	-0.0153	10	0.72032	D	0.01	-15.0186	19.1155	0.93336	0.0:0.0:1.0:0.0	.	792;820	F5H6C2;Q13099	.;IFT88_HUMAN	N	811;820;792	ENSP00000261632:D811N;ENSP00000323580:D820N;ENSP00000437719:D792N	ENSP00000323580:D820N	D	+	1	0	IFT88	20163270	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.949000	0.93012	2.598000	0.87819	0.655000	0.94253	GAT	IFT88	-	NULL	ENSG00000032742		0.383	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	-	0	101	0	G	NM_006531		21265270	1	tier1	-	no_errors	ENST00000319980	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	A	A	21265270	G	A	21265270	3	1	39	1	0	0	0	0	1	0	0	0	7593	1290	45	3	2560	3	IFT88	13	21265270	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		21265270	93904608	224	9538											
FLT1	2321	genome.wustl.edu	37	chr13	28897002	28897002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttcgctgctggtgaCgctatctagtcttggtttct	6	16	10	9	2	3	1	0	1	3	0	4	1	3	1	0	2	2	5	0	2	3	5	rs554058758		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr13:28897002C>T	ENST00000282397.4	-	21	3129	c.2878G>A	c.(2878-2880)Gtc>Atc	p.V960I	FLT1_ENST00000540678.1_Missense_Mutation_p.V178I|FLT1_ENST00000543394.1_5'Flank	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	960	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCTGGTGACGCTATCTAGT	0.473																																																	0													223	196	205					13																	28897002		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2878G>A	13.37:g.28897002C>T	ENSP00000282397:p.Val960Ile		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.V960I	ENST00000282397.4	37	c.2878	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109896	0.20714	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.78481	-0.93;-1.18	5.9	3.29	0.37713	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.347511	0.29587	N	0.011734	T	0.55433	0.1920	N	0.12637	0.245	0.80722	D	1	B	0.30439	0.279	B	0.26094	0.066	T	0.40701	-0.9549	10	0.18276	T	0.48	.	8.7246	0.34460	0.0:0.6543:0.0:0.3457	.	960	P17948	VGFR1_HUMAN	I	960;178	ENSP00000282397:V960I;ENSP00000443311:V178I	ENSP00000282397:V960I	V	-	1	0	FLT1	27795002	0.793000	0.28825	0.636000	0.29352	0.828000	0.46876	1.445000	0.35079	0.433000	0.26313	-0.264000	0.10439	GTC	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102755		0.473	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0	45	0	C			28897002	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	42.22	26	19	SNP	0.980	T	T	28897002	C	T	28897002	3	4	39	1	0	0	0	0	1	0	0	0	5963	536	19	1	1178	1	FLT1	13	28897002	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	7631732	28897002	86272876	225	9539											
NEK3	4752	genome.wustl.edu	37	chr13	52718058	52718059	+	Missense_Mutation	DNP	CT	CT	TC																															tcaaaattcttactttttttCttggtgtgttatgcttcgaa																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr13:52718058_52718059CT>TC	ENST00000400357.2	-	9	2161_2162	c.868_869AG>GA	c.(868-870)AGa>GAa	p.R290E	NEK3_ENST00000452082.2_Missense_Mutation_p.R311E|NEK3_ENST00000339406.3_Missense_Mutation_p.R290E|NEK3_ENST00000378101.2_Missense_Mutation_p.R290E			P51956	NEK3_HUMAN	NIMA-related kinase 3	290					mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACTTTTTTTCTTGGTGTGTTA	0.248																																																	0																																										SO:0001583	missense	0			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"serine/threonine-protein kinase NEK3", "phosphorylase B kinase kinase", "glycogen synthase A kinase", "hydroxyalkyl-protein kinase"	604044	"NIMA (never in mitosis gene a)-related kinase 3"			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.868_869delinsTC	13.37:g.52718058_52718059delinsTC	ENSP00000383210:p.Arg290Glu		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R311K|p.R311G	ENST00000400357.2	37	c.932|c.931	CCDS53871.1	13																																																																																			NEK3	-	NULL	ENSG00000136098		0.248	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NEK3	HGNC	protein_coding	OTTHUMT00000045047.3		0	28	0	C|T			52718058|52718059	-1			no_errors	ENST00000452082	ensembl	human	known	74_37	missense	10.34|8.62	52|53	6|5	SNP	0.035|0.038	T|C	TC	52718059	CT	TC	52718058	3	4	39	1	0	0	0	0	1	0	0	0	10364	913	32	3	679	3	NEK3	13	52718058	Missense_Mutation	DNP	CT	TCGA-JY-A6FG-01A-11D-A33E-09	23821056	52718058	62451820	226	9540											
MYCBP2	23077	genome.wustl.edu	37	chr13	77657220	77657220	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagacatcataaggtcTgagatggtctgcagcaagcg	12	7	15	7	1	3	2	1	1	2	2	3	5	3	3	0	3	3	2	0	3	2	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr13:77657220T>G	ENST00000544440.2	-	63	10886	c.10869A>C	c.(10867-10869)tcA>tcC	p.S3623S	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Silent_p.S3623S|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000407578.2_Silent_p.S3661S|MYCBP2-AS2_ENST00000428716.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCATAAGGTCTGAGATGGTCT	0.468																																																	0													189	171	177					13																	77657220		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10869A>C	13.37:g.77657220T>G				Silent	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S3661	ENST00000544440.2	37	c.10983		13																																																																																			MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.468	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	56	0	T	NM_015057		77657220	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	silent	45.16	34	28	SNP	0.032	G	G	77657220	T	G	77657220	2	3	39	1	0	0	0	0	0	0	0	1	10056	1567	55	4		4	MYCBP2	13	77657220	Silent	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	24939162	77657220	37512658	227	9541											
MYH7	4625	genome.wustl.edu	37	chr14	23894041	23894041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaccatcttctcctccagCtccttgcggcgagcctcgga	6	9	9	17	3	2	0	0	0	2	0	6	3	4	1	5	2	3	1	5	2	0	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:23894041C>A	ENST00000355349.3	-	22	2778	c.2616G>T	c.(2614-2616)gaG>gaT	p.E872D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	872					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCCTCCAGCTCCTTGCGGC	0.582																																																	0													87	76	80					14																	23894041		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2616G>T	14.37:g.23894041C>A	ENSP00000347507:p.Glu872Asp		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E872D	ENST00000355349.3	37	c.2616	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977705	0.74360	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.85556	-2.0	4.73	0.904	0.19302	.	.	.	.	.	D	0.89501	0.6733	M	0.66560	2.04	0.47905	D	0.999544	D	0.69078	0.997	D	0.79108	0.992	D	0.87807	0.2629	9	0.66056	D	0.02	.	10.1646	0.42873	0.0:0.7097:0.0:0.2903	.	872	P12883	MYH7_HUMAN	D	872	ENSP00000347507:E872D	ENSP00000347507:E872D	E	-	3	2	MYH7	22963881	0.900000	0.30661	1.000000	0.80357	0.996000	0.88848	0.001000	0.13038	0.318000	0.23185	0.655000	0.94253	GAG	MYH7	-	NULL	ENSG00000092054		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	33	0	C	NM_000257		23894041	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	A	A	23894041	C	A	23894041	3	1	39	1	0	0	0	0	1	0	0	0	10077	796	28	3	3267	3	MYH7	14	23894041	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		23894041	83455499	228	9542											
NFATC4	4776	genome.wustl.edu	37	chr14	24839449	24839449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccatcttcagcctcccCagctctgtcccgccgtggca	6	8	7	20	2	3	0	1	0	2	0	5	0	5	0	7	1	3	2	7	1	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:24839449C>T	ENST00000250373.4	+	2	986	c.845C>T	c.(844-846)cCa>cTa	p.P282L	NFATC4_ENST00000555590.1_Missense_Mutation_p.P295L|NFATC4_ENST00000557451.1_Missense_Mutation_p.P212L|NFATC4_ENST00000413692.2_Missense_Mutation_p.P345L|NFATC4_ENST00000554966.1_Missense_Mutation_p.P295L|NFATC4_ENST00000556169.1_Missense_Mutation_p.P270L|NFATC4_ENST00000554591.1_Missense_Mutation_p.P345L|NFATC4_ENST00000555453.1_Missense_Mutation_p.P270L|NFATC4_ENST00000554473.1_5'Flank|NFATC4_ENST00000556759.1_5'Flank|NFATC4_ENST00000556279.1_Missense_Mutation_p.P314L|NFATC4_ENST00000555167.1_5'Flank|NFATC4_ENST00000554050.1_Missense_Mutation_p.P282L|NFATC4_ENST00000554344.1_Missense_Mutation_p.P212L|NFATC4_ENST00000422617.3_Missense_Mutation_p.P270L|NFATC4_ENST00000424781.2_Missense_Mutation_p.P295L|NFATC4_ENST00000553708.1_Missense_Mutation_p.P282L|NFATC4_ENST00000553469.1_Missense_Mutation_p.P314L|NFATC4_ENST00000553879.1_Missense_Mutation_p.P212L|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000539237.2_Missense_Mutation_p.P314L|NFATC4_ENST00000554661.1_Missense_Mutation_p.P212L	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	282	2 approximate SP repeats.|Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCAGCCTCCCCAGCTCTGTCC	0.701																																																	0													16	19	18					14																	24839449		2198	4290	6488	SO:0001583	missense	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"Nuclear factor of activated T-cells"	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.845C>T	14.37:g.24839449C>T	ENSP00000250373:p.Pro282Leu		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.P345L	ENST00000250373.4	37	c.1034	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349002	0.61183	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	4.11	4.11	0.48088	.	0.148706	0.43919	D	0.000517	T	0.34861	0.0912	M	0.68952	2.095	0.80722	D	1	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.89917	0.936;0.936;1.0;0.936;1.0;1.0;0.936;0.936;0.936;0.936;1.0;0.895;1.0;1.0	P;P;D;P;D;D;P;P;P;P;D;P;D;D	0.91635	0.556;0.654;0.999;0.654;0.999;0.999;0.654;0.654;0.654;0.654;0.999;0.452;0.999;0.999	T	0.12372	-1.0550	10	0.87932	D	0	-3.9881	14.2256	0.65858	0.0:1.0:0.0:0.0	.	270;270;314;314;295;295;295;345;345;270;314;259;345;282	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	L	345;345;295;295;295;314;314;314;282;282;282;212;212;212;270;212;270;270	ENSP00000388910:P345L;ENSP00000452039:P345L;ENSP00000451224:P295L;ENSP00000450644:P295L;ENSP00000388668:P295L;ENSP00000439350:P314L;ENSP00000452270:P314L;ENSP00000451502:P314L;ENSP00000451151:P282L;ENSP00000250373:P282L;ENSP00000450590:P282L;ENSP00000452349:P212L;ENSP00000450469:P212L;ENSP00000450733:P212L;ENSP00000451454:P270L;ENSP00000451284:P212L;ENSP00000396788:P270L;ENSP00000450686:P270L	ENSP00000250373:P282L	P	+	2	0	NFATC4	23909289	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.940000	0.75917	2.286000	0.76751	0.467000	0.42956	CCA	NFATC4	-	NULL	ENSG00000100968		0.701	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	-	0	92	0	C	NM_004554		24839449	1	tier1	-	no_errors	ENST00000413692	ensembl	human	known	74_37	missense	46.81	25	22	SNP	1.000	T	T	24839449	C	T	24839449	3	4	39	1	0	0	0	0	1	0	0	0	10404	594	21	3	1044	3	NFATC4	14	24839449	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	945408	24839449	82510091	229	9543											
AKAP6	9472	genome.wustl.edu	37	chr14	32902973	32902973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctaacctattcagtcCagcaggattcggacagcaag	13	7	10	11	1	1	1	1	0	0	1	3	4	2	3	3	2	3	2	3	2	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:32902973C>A	ENST00000280979.4	+	2	444	c.274C>A	c.(274-276)Cag>Aag	p.Q92K	AKAP6_ENST00000557272.1_Missense_Mutation_p.Q92K|AKAP6_ENST00000557354.1_Missense_Mutation_p.Q92K|AKAP6_ENST00000554449.1_3'UTR	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	92					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTATTCAGTCCAGCAGGATTC	0.488																																					Melanoma(49;821 1200 7288 13647 42351)												0													109	98	102					14																	32902973		2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.274C>A	14.37:g.32902973C>A	ENSP00000280979:p.Gln92Lys		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.Q92K	ENST00000280979.4	37	c.274	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598433	0.66332	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557102;ENST00000557272	T;T;T	0.22539	3.2;1.96;1.95	6.12	5.24	0.73138	.	0.137286	0.52532	D	0.000079	T	0.37019	0.0988	L	0.48642	1.525	0.41383	D	0.987567	D;D	0.67145	0.993;0.996	P;P	0.60415	0.787;0.874	T	0.18903	-1.0322	10	0.87932	D	0	-11.0216	15.7883	0.78326	0.0:0.9351:0.0:0.0649	.	92;92	A7E242;Q13023	.;AKAP6_HUMAN	K	92	ENSP00000280979:Q92K;ENSP00000450531:Q92K;ENSP00000451247:Q92K	ENSP00000280979:Q92K	Q	+	1	0	AKAP6	31972724	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	3.469000	0.53093	1.625000	0.50366	-0.149000	0.13747	CAG	AKAP6	-	NULL	ENSG00000151320		0.488	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2		0	36	0	C	NM_004274		32902973	1			no_errors	ENST00000280979	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	32902973	C	A	32902973	3	1	39	1	0	0	0	0	1	0	0	0	455	595	21	3	276	3	AKAP6	14	32902973	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8063524	32902973	74446567	230	9544											
FAM179B	23116	genome.wustl.edu	37	chr14	45513927	45513927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagagcatggatcaagaGctagataccacagtaaaagt	20	6	9	6	0	1	3	1	0	0	3	1	4	1	4	1	1	3	3	1	1	7	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:45513927G>T	ENST00000361577.3	+	13	4222	c.4008G>T	c.(4006-4008)gaG>gaT	p.E1336D	FAM179B_ENST00000382233.2_3'UTR|KLHL28_ENST00000553817.1_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.E1336D	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1336										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGATCAAGAGCTAGATACCA	0.343																																																	0													93	93	93					14																	45513927		2203	4300	6503	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4008G>T	14.37:g.45513927G>T	ENSP00000355045:p.Glu1336Asp		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1336D	ENST00000361577.3	37	c.4008	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216335	0.58452	.	.	ENSG00000198718	ENST00000361577;ENST00000361462	T;T	0.33865	1.39;1.39	5.83	0.713	0.18173	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.35854	1.095	0.80722	D	1	B;P	0.46859	0.08;0.885	B;P	0.53722	0.237;0.733	T	0.03829	-1.1000	10	0.33141	T	0.24	-22.6321	9.5841	0.39506	0.5937:0.0:0.4063:0.0	.	1336;1336	G3XAE9;Q9Y4F4	.;F179B_HUMAN	D	1336	ENSP00000355045:E1336D;ENSP00000354917:E1336D	ENSP00000354917:E1336D	E	+	3	2	FAM179B	44583677	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	1.960000	0.40422	0.130000	0.18549	-0.300000	0.09419	GAG	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.343	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	-	0	46	0	G	XM_113781		45513927	1	tier1	-	no_errors	ENST00000361577	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.998	T	T	45513927	G	T	45513927	3	4	39	1	0	0	0	0	1	0	0	0	5525	962	34	3	4058	3	FAM179B	14	45513927	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	12610954	45513927	61835613	231	9545											
FBXO34	55030	genome.wustl.edu	37	chr14	55818294	55818294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagccgggttcgcaaactGccgtgaaaaacagcaacaga	15	5	11	10	3	0	3	0	1	0	2	1	3	0	3	2	1	6	3	2	1	5	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:55818294G>A	ENST00000313833.4	+	2	1431	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	FBXO34_ENST00000440021.1_Missense_Mutation_p.A396T	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	396										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTCGCAAACTGCCGTGAAAAA	0.517																																																	0													128	111	117					14																	55818294		2203	4300	6503	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1186G>A	14.37:g.55818294G>A	ENSP00000313159:p.Ala396Thr		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom,pfscan_F-box_dom	p.A396T	ENST00000313833.4	37	c.1186	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	G	2.624	-0.287802	0.05605	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.19394	2.15;2.15	5.48	2.64	0.31445	.	0.646310	0.14542	N	0.313201	T	0.17238	0.0414	L	0.57536	1.79	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.28996	-1.0026	10	0.28530	T	0.3	-8.804	2.6796	0.05090	0.1391:0.1253:0.4775:0.258	.	396	Q9NWN3	FBX34_HUMAN	T	396	ENSP00000313159:A396T;ENSP00000394117:A396T	ENSP00000313159:A396T	A	+	1	0	FBXO34	54888047	0.004000	0.15560	0.009000	0.14445	0.007000	0.05969	0.563000	0.23547	0.418000	0.25898	-0.145000	0.13849	GCC	FBXO34	-	NULL	ENSG00000178974		0.517	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	-	0	41	0	G			55818294	1	tier1	-	no_errors	ENST00000313833	ensembl	human	known	74_37	missense	59.38	26	38	SNP	0.003	A	A	55818294	G	A	55818294	3	1	39	1	0	0	0	0	1	0	0	0	5766	1319	46	3	1188	3	FBXO34	14	55818294	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10304367	55818294	51531246	232	9546											
MUDENG	55745	genome.wustl.edu	37	chr14	57752991	57752991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggatgttatgcagatcaGcattcagttcaagtttttgc	10	15	9	7	0	3	1	3	0	0	1	3	2	3	2	0	1	3	5	0	1	2	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:57752991G>T	ENST00000261558.3	+	7	1750	c.1344G>T	c.(1342-1344)caG>caT	p.Q448H	AP5M1_ENST00000431972.2_Missense_Mutation_p.Q462H	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	448	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											ATGCAGATCAGCATTCAGTTC	0.323																																																	0													175	171	173					14																	57752991		2203	4297	6500	SO:0001583	missense	0			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1344G>T	14.37:g.57752991G>T	ENSP00000261558:p.Gln448His		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	p.Q448H	ENST00000261558.3	37	c.1344	CCDS9729.1	14	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509625	0.64522	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19532	2.14;2.14	5.65	3.84	0.44239	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.70595	2.14	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.24261	-1.0165	10	0.72032	D	0.01	.	9.4008	0.38431	0.216:0.0:0.784:0.0	.	448	Q9H0R1	MUDEN_HUMAN	H	448;462	ENSP00000261558:Q448H;ENSP00000390531:Q462H	ENSP00000261558:Q448H	Q	+	3	2	MUDENG	56822744	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.003000	0.40844	0.752000	0.32923	-0.225000	0.12378	CAG	AP5M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000053770		0.323	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5M1	HGNC	protein_coding	OTTHUMT00000276922.1	-	0	28	0	G	NM_018229		57752991	1	tier1	-	no_errors	ENST00000261558	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	57752991	G	T	57752991	3	4	39	1	0	0	0	0	1	0	0	0	10021	962	34	3	1370	3	MUDENG	14	57752991	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1934697	57752991	49596549	233	9547											
C14orf37	145407	genome.wustl.edu	37	chr14	58471477	58471477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcatcttcagagctgtCggctaagagcattactcgat	12	12	8	9	2	3	2	2	0	1	2	5	3	3	2	0	1	3	3	0	1	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:58471477C>A	ENST00000267485.7	-	8	2496	c.2302G>T	c.(2302-2304)Gac>Tac	p.D768Y		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	768						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCAGAGCTGTCGGCTAAGAGC	0.358																																																	0													135	140	138					14																	58471477		2203	4300	6503	SO:0001583	missense	0				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.2302G>T	14.37:g.58471477C>A	ENSP00000267485:p.Asp768Tyr		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.D768Y	ENST00000267485.7	37	c.2302	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593929	0.66219	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.50001	0.76	5.64	5.64	0.86602	.	0.065952	0.64402	D	0.000009	T	0.67335	0.2882	L	0.58101	1.795	0.48511	D	0.999669	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.68667	-0.5348	10	0.87932	D	0	-15.6423	18.7057	0.91637	0.0:1.0:0.0:0.0	.	806;768;768	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	Y	768;806	ENSP00000267485:D768Y	ENSP00000267485:D768Y	D	-	1	0	C14orf37	57541230	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.076000	0.64413	2.662000	0.90505	0.655000	0.94253	GAC	C14orf37	-	NULL	ENSG00000139971		0.358	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	-	0	40	0	C	NM_001001872		58471477	-1	tier1	-	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	55.34	46	57	SNP	1.000	A	A	58471477	C	A	58471477	3	1	39	1	0	0	0	0	1	0	0	0	1776	884	31	2	26	2	C14orf37	14	58471477	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	718486	58471477	48878063	234	9548											
SIX6	4990	genome.wustl.edu	37	chr14	60976162	60976162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccccagcaagtggccGgggtatgtgagaccctggaa	9	6	14	12	1	1	1	1	1	0	1	1	3	1	2	4	4	2	2	4	4	3	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:60976162G>T	ENST00000327720.5	+	1	494	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	16					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GCAAGTGGCCGGGGTATGTGA	0.682																																																	0													38	45	43					14																	60976162		2203	4298	6501	SO:0001583	missense	0			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"Homeoboxes / SINE class"	10892	protein-coding gene	gene with protein product		606326	"sine oculis homeobox (Drosophila) homolog 6", "sine oculis homeobox homolog 6 (Drosophila)"	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.46G>T	14.37:g.60976162G>T	ENSP00000328596:p.Gly16Trp		Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G16W	ENST00000327720.5	37	c.46	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625249	0.66901	.	.	ENSG00000184302	ENST00000327720	D	0.97303	-4.33	5.65	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.95806	0.8635	N	0.22421	0.69	0.80722	D	1	D	0.64830	0.994	P	0.55824	0.785	D	0.96388	0.9287	10	0.72032	D	0.01	.	13.8454	0.63463	0.0724:0.0:0.9276:0.0	.	16	O95475	SIX6_HUMAN	W	16	ENSP00000328596:G16W	ENSP00000328596:G16W	G	+	1	0	SIX6	60045915	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	3.416000	0.52707	1.632000	0.50472	-0.140000	0.14226	GGG	SIX6	-	NULL	ENSG00000184302		0.682	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	-	0	42	0	G			60976162	1	tier1	-	no_errors	ENST00000327720	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	T	T	60976162	G	T	60976162	3	4	39	1	0	0	0	0	1	0	0	0	14396	1116	39	2	48	2	SIX6	14	60976162	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2504685	60976162	46373378	235	9549											
FUT8	2530	genome.wustl.edu	37	chr14	66188719	66188719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaccaagaagcttggCttcaaacatccagttattgg	13	9	9	10	0	1	1	1	0	0	1	2	2	2	1	3	2	3	3	3	2	5	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:66188719C>T	ENST00000360689.5	+	8	2789	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	FUT8_ENST00000394586.2_Silent_p.G354G|FUT8_ENST00000417683.1_Intron|FUT8_ENST00000394585.1_Silent_p.G354G|FUT8_ENST00000358307.2_Silent_p.G225G|FUT8_ENST00000557164.1_Silent_p.G191G	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	354	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AGAAGCTTGGCTTCAAACATC	0.393																																																	0													76	77	77					14																	66188719		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"Fucosyltransferases"	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1062C>T	14.37:g.66188719C>T			B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk	p.G354	ENST00000360689.5	37	c.1062	CCDS9775.1	14																																																																																			FUT8	-	pirsf_Alpha1_6FUT_euk	ENSG00000033170		0.393	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT8	HGNC	protein_coding	OTTHUMT00000286406.1	-	0	55	0	C	NM_004480		66188719	1	tier1	-	no_errors	ENST00000360689	ensembl	human	known	74_37	silent	30.56	50	22	SNP	1.000	T	T	66188719	C	T	66188719	2	4	39	1	0	0	0	0	0	0	0	1	6134	784	28	3		3	FUT8	14	66188719	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5212557	66188719	41160821	236	9550											
DCAF4	26094	genome.wustl.edu	37	chr14	73422300	73422300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgcgttgtggaaatcaaGgcaagggatggaaggccacc	12	7	14	8	1	2	0	1	0	1	0	2	3	2	3	2	5	1	2	2	5	4	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:73422300G>T	ENST00000358377.2	+	12	1295	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C	DCAF4_ENST00000553457.1_Missense_Mutation_p.G259C|DCAF4_ENST00000509153.1_Missense_Mutation_p.G299C|DCAF4_ENST00000394234.2_Missense_Mutation_p.G259C|DCAF4_ENST00000555042.1_Missense_Mutation_p.G353C|DCAF4_ENST00000353777.3_Missense_Mutation_p.G189C	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	359					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TGGAAATCAAGGCAAGGGATG	0.542																																																	0													212	199	203					14																	73422300		2203	4300	6503	SO:0001583	missense	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1075G>T	14.37:g.73422300G>T	ENSP00000351147:p.Gly359Cys		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G359C	ENST00000358377.2	37	c.1075	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242839	0.58995	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.71103	-0.54;1.93;1.93;1.93;1.93;1.93	5.64	3.81	0.43845	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.244180	0.48767	D	0.000166	T	0.70168	0.3193	L	0.39020	1.185	0.36447	D	0.865867	B;D;D;D;B;D	0.61080	0.399;0.977;0.987;0.975;0.223;0.989	B;P;P;P;B;P	0.60068	0.141;0.832;0.853;0.853;0.132;0.868	T	0.73597	-0.3932	10	0.45353	T	0.12	.	6.9068	0.24313	0.144:0.0:0.7146:0.1414	.	299;338;359;353;189;359	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	C	359;189;259;299;353;259	ENSP00000351147:G359C;ENSP00000345176:G189C;ENSP00000377781:G259C;ENSP00000426178:G299C;ENSP00000452131:G353C;ENSP00000451186:G259C	ENSP00000345176:G189C	G	+	1	0	DCAF4	72492053	1.000000	0.71417	0.971000	0.41717	0.894000	0.52154	5.332000	0.65911	1.388000	0.46506	0.561000	0.74099	GGC	DCAF4	-	superfamily_WD40_repeat_dom	ENSG00000119599		0.542	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1	-	0	37	0	G	NM_015604		73422300	1	tier1	-	no_errors	ENST00000358377	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.998	T	T	73422300	G	T	73422300	3	4	39	1	0	0	0	0	1	0	0	0	4279	1000	35	3	1120	3	DCAF4	14	73422300	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	7233581	73422300	33927240	237	9551											
RBM25	58517	genome.wustl.edu	37	chr14	73576165	73576165	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagcgccttctggcaGaagggcatccagatccagat	10	7	12	12	1	2	3	1	0	1	3	4	3	4	3	3	3	1	3	3	3	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:73576165G>T	ENST00000261973.7	+	14	1942	c.1657G>T	c.(1657-1659)Gaa>Taa	p.E553*	RBM25_ENST00000527432.1_Nonsense_Mutation_p.E553*|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	553	Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CCTTCTGGCAGAAGGGCATCC	0.532																																																	0													88	87	88					14																	73576165		2203	4300	6503	SO:0001587	stop_gained	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1657G>T	14.37:g.73576165G>T	ENSP00000261973:p.Glu553*		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Nonsense_Mutation	SNP	pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom	p.E553*	ENST00000261973.7	37	c.1657	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	42	9.310948	0.99133	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	553	.	ENSP00000261973:E553X	E	+	1	0	RBM25	72645918	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.658000	0.98594	2.836000	0.97738	0.655000	0.94253	GAA	RBM25	-	NULL	ENSG00000119707		0.532	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	-	0	41	0	G	XM_027330		73576165	1	tier1	-	no_errors	ENST00000261973	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	73576165	G	T	73576165	4	4	39	1	0	0	0	0	0	1	0	0	13170	943	33	3	1707	3	RBM25	14	73576165	Nonsense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	153865	73576165	33773375	238	9552											
SERPINA9	327657	genome.wustl.edu	37	chr14	94935585	94935585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaccagaaccatggccGtcagaaggtcaaggccttgg	10	7	13	11	1	3	2	3	0	0	2	3	2	3	2	4	5	1	1	4	5	3	2	rs575429531		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:94935585G>A	ENST00000380365.3	-	2	671	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SERPINA9_ENST00000424550.2_Missense_Mutation_p.T67M|SERPINA9_ENST00000546329.1_Missense_Mutation_p.T180M|SERPINA9_ENST00000298845.7_Missense_Mutation_p.T116M|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000337425.5_Missense_Mutation_p.T216M|SERPINA9_ENST00000448305.2_Missense_Mutation_p.T118M			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	198					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AACCATGGCCGTCAGAAGGTC	0.403													G|||	1	0.000199681	0	0	5008	,	,		20482	0		0	False		,,,				2504	0.001																0													123	118	119					14																	94935585		1870	4114	5984	SO:0001583	missense	0			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.593C>T	14.37:g.94935585G>A	ENSP00000369723:p.Thr198Met		B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.T216M	ENST00000380365.3	37	c.647		14	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954556	0.53293	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	3.67	3.67	0.42095	Serpin domain (3);	0.187474	0.36303	N	0.002678	D	0.93171	0.7825	M	0.80422	2.495	0.20074	N	0.999936	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.982;0.998;0.994;0.998;0.974	D	0.87133	0.2198	10	0.62326	D	0.03	.	15.7603	0.78073	0.0:0.0:1.0:0.0	.	180;198;118;216;116	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	M	118;116;67;216;198;180	ENSP00000414092:T118M;ENSP00000298845:T116M;ENSP00000409012:T67M;ENSP00000337133:T216M;ENSP00000369723:T198M;ENSP00000445476:T180M	ENSP00000298845:T116M	T	-	2	0	SERPINA9	94005338	0.998000	0.40836	0.995000	0.50966	0.858000	0.48976	3.301000	0.51842	1.788000	0.52465	0.462000	0.41574	ACG	SERPINA9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000170054		0.403	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	-	0	56	0	G	NM_175739		94935585	-1	tier1	-	no_errors	ENST00000337425	ensembl	human	known	74_37	missense	52.94	16	18	SNP	0.250	A	A	94935585	G	A	94935585	3	1	39	1	0	0	0	0	1	0	0	0	14140	1145	40	1	676	1	SERPINA9	14	94935585	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	21359420	94935585	12413955	239	9553											
PPP1R13B	23368	genome.wustl.edu	37	chr14	104220545	104220545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaatagactgctgctgacGgcgctcctgttgctttagaa	10	11	11	9	2	0	4	0	1	0	3	1	4	1	4	1	1	3	5	1	1	4	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:104220545G>A	ENST00000202556.9	-	6	775	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	165	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				tgctgctgACGGCGCTCCTGT	0.418																																																	0													115	106	109					14																	104220545		1851	4098	5949	SO:0001583	missense	0			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.493C>T	14.37:g.104220545G>A	ENSP00000202556:p.Arg165Cys		B2RMX5|O94870	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.R165C	ENST00000202556.9	37	c.493	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027952	0.75390	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.33216	1.42	5.66	5.66	0.87406	.	0.094530	0.85682	D	0.000000	T	0.25827	0.0629	L	0.35542	1.07	0.80722	D	1	P	0.35050	0.482	B	0.23574	0.047	T	0.04855	-1.0922	10	0.59425	D	0.04	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	165	Q96KQ4	ASPP1_HUMAN	C	165;32	ENSP00000202556:R165C	ENSP00000202556:R165C	R	-	1	0	PPP1R13B	103290298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.338000	0.96553	2.832000	0.97577	0.655000	0.94253	CGT	PPP1R13B	-	NULL	ENSG00000088808		0.418	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	-	0	18	0	G	NM_015316		104220545	-1	tier1	-	no_errors	ENST00000202556	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	A	A	104220545	G	A	104220545	3	1	39	1	0	0	0	0	1	0	0	0	12399	1116	39	1	2827	1	PPP1R13B	14	104220545	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	9284960	104220545	3128995	240	9554											
INF2	64423	genome.wustl.edu	37	chr14	105180911	105180911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggatcccacgtccttgCtgggcgtcctccaggccgag	6	7	12	16	3	0	0	0	0	0	0	4	2	4	1	6	3	1	1	6	3	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr14:105180911C>T	ENST00000392634.4	+	21	3524	c.3412C>T	c.(3412-3414)Ctg>Ttg	p.L1138L	INF2_ENST00000330634.7_Silent_p.L1138L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1138					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CACGTCCTTGCTGGGCGTCCT	0.657																																																	0													53	62	59					14																	105180911		2056	4193	6249	SO:0001819	synonymous_variant	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3412C>T	14.37:g.105180911C>T			Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.L1138	ENST00000392634.4	37	c.3412	CCDS9989.2	14																																																																																			INF2	-	NULL	ENSG00000203485		0.657	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0	92	0	C	NM_022489		105180911	1			no_errors	ENST00000392634	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	T	T	105180911	C	T	105180911	2	4	39	1	0	0	0	0	0	0	0	1	7761	796	28	3		3	INF2	14	105180911	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	960366	105180911	2168629	241	9555											
HERC2	8924	genome.wustl.edu	37	chr15	28441632	28441632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaggatgaatactgggtaCcaactccatttctgatagca	12	10	8	11	0	1	2	0	2	1	0	2	3	2	3	3	2	4	2	3	2	5	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:28441632C>G	ENST00000261609.7	-	51	8203	c.8095G>C	c.(8095-8097)Gta>Cta	p.V2699L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATACTGGGTACCAACTCCATT	0.408																																																	0													107	106	107					15																	28441632		2203	4300	6503	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.8095G>C	15.37:g.28441632C>G	ENSP00000261609:p.Val2699Leu			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.V2699L	ENST00000261609.7	37	c.8095	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354037	0.61293	.	.	ENSG00000128731	ENST00000261609	T	0.44482	0.92	5.3	5.3	0.74995	.	0.139056	0.47093	D	0.000244	T	0.59582	0.2204	L	0.49350	1.555	0.80722	D	1	D;D	0.64830	0.994;0.984	D;D	0.70716	0.97;0.956	T	0.53129	-0.8482	10	0.33940	T	0.23	.	19.3101	0.94184	0.0:1.0:0.0:0.0	.	166;2699	A8KAQ8;O95714	.;HERC2_HUMAN	L	2699	ENSP00000261609:V2699L	ENSP00000261609:V2699L	V	-	1	0	HERC2	26115227	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	6.051000	0.71072	2.649000	0.89929	0.484000	0.47621	GTA	HERC2	-	NULL	ENSG00000128731		0.408	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	104	0	C	NM_004667		28441632	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	34.39	103	54	SNP	1.000	G	G	28441632	C	G	28441632	3	3	39	1	0	0	0	0	1	0	0	0	7085	507	18	5	6581	5	HERC2	15	28441632	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		28441632	74089760	242	9556											
FMN1	342184	genome.wustl.edu	37	chr15	33358786	33358786	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcttagcgactccttctCatgtctcatcttgcgcttga	6	15	7	13	2	4	1	2	1	4	0	7	2	5	1	1	0	3	2	1	0	1	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:33358786C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.E434K|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.E434K			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GACTCCTTCTCATGTCTCATC	0.507																																																	0													53	53	53					15																	33358786		1967	4163	6130	SO:0001627	intron_variant	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1511G>A	15.37:g.33358786C>T			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.E434K	ENST00000559047.1	37	c.1300		15	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448568	0.84101	.	.	ENSG00000248905	ENST00000334528	T	0.53423	0.62	5.96	5.96	0.96718	.	0.049723	0.85682	D	0.000000	T	0.71600	0.3359	.	.	.	0.20563	N	0.99989	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.942	T	0.69781	-0.5052	8	0.46703	T	0.11	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	434;434	Q68DA7-3;Q68DA7-5	.;.	K	434	ENSP00000333950:E434K	ENSP00000333950:E434K	E	-	1	0	FMN1	31146078	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.805000	0.75191	2.832000	0.97577	0.655000	0.94253	GAG	FMN1	-	NULL	ENSG00000248905		0.507	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	-	0	54	0	C	NM_001103184		33358786	-1	tier1	-	no_errors	ENST00000334528	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T	T	33358786	C	T	33358786	1	4	39	0	1	0	0	0	0	0	0	0	5971	835	29	3		3	FMN1	15	33358786	Intron	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	4917154	33358786	69172606	243	9557											
C15orf52	388115	genome.wustl.edu	37	chr15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-																															gctggtgtggtcacagccatCcccccctgctctgcctgccg																								rs199693415		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:40631782delC	ENST00000559313.1	-	3	309	c.294delG	c.(292-294)gggfs	p.G98fs	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	98							poly(A) RNA binding (GO:0044822)	p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647																																																	1	Deletion - Frameshift(1)	large_intestine(1)											81	90	87					15																	40631782		2125	4232	6357	SO:0001589	frameshift_variant	0			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.294delG	15.37:g.40631782delC	ENSP00000453969:p.Gly98fs		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Del	DEL	NULL	p.M99fs	ENST00000559313.1	37	c.294	CCDS10055.2	15																																																																																			C15orf52	-	NULL	ENSG00000188549		0.647	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2		0	36	0	C	NM_207380		40631782	-1	tier1		no_errors	ENST00000559313	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.991	-	-	40631782	C	-	40631782	7	5	39	1	0	1	0	1	0	0	0	0	1805	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Del	DEL	C	TCGA-JY-A6FG-01A-11D-A33E-09	7272996	40631782	61899610	244	9558											
RPAP1	26015	genome.wustl.edu	37	chr15	41813145	41813145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgggactcgctgtagcTcccctcggtgcagagcctgg	4	9	16	12	2	0	1	0	0	0	1	3	2	1	2	3	4	3	5	3	4	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:41813145T>C	ENST00000304330.4	-	22	3355	c.3239A>G	c.(3238-3240)gAg>gGg	p.E1080G	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1080	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCGCTGTAGCTCCCCTCGGTG	0.667																																																	0													63	54	57					15																	41813145		2203	4300	6503	SO:0001583	missense	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3239A>G	15.37:g.41813145T>C	ENSP00000306123:p.Glu1080Gly		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.E1080G	ENST00000304330.4	37	c.3239	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	T	12.89	2.072032	0.36566	.	.	ENSG00000103932	ENST00000304330	T	0.74947	-0.89	4.95	3.81	0.43845	.	0.358767	0.30076	N	0.010474	T	0.62708	0.2450	L	0.51422	1.61	0.29196	N	0.875554	B	0.28128	0.201	B	0.19666	0.026	T	0.61744	-0.7000	10	0.87932	D	0	-9.8162	4.0799	0.09921	0.1593:0.154:0.0:0.6868	.	1080	Q9BWH6	RPAP1_HUMAN	G	1080	ENSP00000306123:E1080G	ENSP00000306123:E1080G	E	-	2	0	RPAP1	39600437	0.067000	0.21026	0.970000	0.41538	0.840000	0.47671	0.329000	0.19698	0.881000	0.35993	0.460000	0.39030	GAG	RPAP1	-	NULL	ENSG00000103932		0.667	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2		0	162	0	T	NM_015540		41813145	-1			no_errors	ENST00000304330	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.930	C	C	41813145	T	C	41813145	3	2	39	1	0	0	0	0	1	0	0	0	13586	1551	54	4	958	4	RPAP1	15	41813145	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	1181363	41813145	60718247	245	9559											
PDIA3	2923	genome.wustl.edu	37	chr15	44057747	44057747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagtggcaaaattaaaaaGtttatccaggaaaacatgtg	18	9	8	6	0	0	0	0	0	0	0	1	1	1	1	2	2	1	2	2	2	8	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:44057747G>T	ENST00000300289.5	+	6	850	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PDIA3_ENST00000538521.1_Missense_Mutation_p.K214N	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	234					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AAATTAAAAAGTTTATCCAGG	0.353																																																	0													124	122	123					15																	44057747		2198	4298	6496	SO:0001583	missense	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"Protein disulfide isomerases"	4606	protein-coding gene	gene with protein product		602046	"glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3"	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.702G>T	15.37:g.44057747G>T	ENSP00000300289:p.Lys234Asn		Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.K234N	ENST00000300289.5	37	c.702	CCDS10101.1	15	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085630	0.36758	.	.	ENSG00000167004	ENST00000300289;ENST00000538826;ENST00000537673;ENST00000538521	T;T	0.35048	1.33;1.33	5.93	3.78	0.43462	Thioredoxin-like fold (2);	0.082718	0.85682	D	0.000000	T	0.31358	0.0794	L	0.45137	1.4	0.52501	D	0.999953	B;B	0.25609	0.027;0.13	B;B	0.34779	0.024;0.189	T	0.07947	-1.0746	10	0.37606	T	0.19	.	6.8179	0.23841	0.712:0.0:0.288:0.0	.	214;234	G5EA52;P30101	.;PDIA3_HUMAN	N	234;209;8;214	ENSP00000300289:K234N;ENSP00000438260:K214N	ENSP00000300289:K234N	K	+	3	2	PDIA3	41845039	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	0.585000	0.23879	0.643000	0.30638	0.637000	0.83480	AAG	PDIA3	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000167004		0.353	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3		0	52	0	G	NM_005313		44057747	1			no_errors	ENST00000300289	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	44057747	G	T	44057747	3	4	39	1	0	0	0	0	1	0	0	0	11708	1020	36	3	724	3	PDIA3	15	44057747	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2244602	44057747	58473645	246	9560											
PRTG	283659	genome.wustl.edu	37	chr15	55964703	55964703	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaatgggcccattctcctGctgcccttcttccttgtagt	6	14	8	13	0	2	0	0	0	2	0	4	1	3	0	4	1	2	2	4	1	3	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:55964703G>A	ENST00000389286.4	-	11	2028	c.1981C>T	c.(1981-1983)Cag>Tag	p.Q661*		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CCATTCTCCTGCTGCCCTTCT	0.473																																																	0													129	132	131					15																	55964703		1950	4133	6083	SO:0001587	stop_gained	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1981C>T	15.37:g.55964703G>A	ENSP00000373937:p.Gln661*			Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q661*	ENST00000389286.4	37	c.1981	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	G	40	7.959969	0.98583	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.52	5.52	0.82312	.	0.797682	0.12247	N	0.486021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-12.4126	18.4581	0.90728	0.0:0.0:1.0:0.0	.	.	.	.	X	661	.	ENSP00000373937:Q661X	Q	-	1	0	PRTG	53751995	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.349000	0.73013	2.591000	0.87537	0.650000	0.86243	CAG	PRTG	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000166450		0.473	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	-	0	63	0	G	NM_173814		55964703	-1	tier1	-	no_errors	ENST00000389286	ensembl	human	known	74_37	nonsense	36.62	45	26	SNP	1.000	A	A	55964703	G	A	55964703	4	1	39	1	0	0	0	0	0	1	0	0	12680	1328	46	3	1511	3	PRTG	15	55964703	Nonsense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	11906956	55964703	46566689	247	9561											
ZNF280D	54816	genome.wustl.edu	37	chr15	56946703	56946704	+	Splice_Site	INS	-	-	A																															cacactagagtaatgcccctINSaaaaaaaaaagcattaaaaa																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:56946703_56946704insA	ENST00000267807.7	-	18	2274		c.e18-2		ZNF280D_ENST00000559237.1_Splice_Site|ZNF280D_ENST00000559000.1_Splice_Site	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GTAATGCCCCTAAAAAAAAAAG	0.287																																																	0																																										SO:0001630	splice_region_variant	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2058-2->T	15.37:g.56946713_56946713dupA			A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Splice_Site	INS	-	e16-2	ENST00000267807.7	37	c.2058-3_2058-2	CCDS32245.1	15																																																																																			ZNF280D	-	-	ENSG00000137871		0.287	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2		0	38	0	-	XM_370867	Intron	56946704	-1	tier1		no_errors	ENST00000267807	ensembl	human	known	74_37	splice_site_ins	27.50	58	22	INS	1.000:0.001	A	A	56946704	-	A	56946703	8	5	39	1	0	1	1	0	0	0	1	0	17865	1536	53	0	903	0	ZNF280D	15	56946703	Splice_Site	INS	-	TCGA-JY-A6FG-01A-11D-A33E-09	982000	56946703	45584689	248	9562											
PIF1	80119	genome.wustl.edu	37	chr15	65108838	65108838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacacgggggtcacagcgaaCcgccatggggtcaaagtcca	11	4	13	13	3	2	0	2	0	0	0	3	1	3	0	3	4	2	0	3	4	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:65108838C>T	ENST00000268043.4	-	12	1895	c.1801G>A	c.(1801-1803)Gtt>Att	p.V601I	PIF1_ENST00000559239.1_Missense_Mutation_p.V601I|PIF1_ENST00000333425.6_Missense_Mutation_p.V601I					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						TCACAGCGAACCGCCATGGGG	0.647																																																	0													63	70	68					15																	65108838		2202	4299	6501	SO:0001583	missense	0			AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"chromosome 15 open reading frame 20", "PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.1801G>A	15.37:g.65108838C>T	ENSP00000268043:p.Val601Ile			Missense_Mutation	SNP	pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase	p.V601I	ENST00000268043.4	37	c.1801	CCDS10195.2	15	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579730	0.86645	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.52057	0.68;0.68	5.88	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.11364	0.135	0.80722	D	1	D	0.58970	0.984	P	0.62184	0.899	T	0.36648	-0.9739	10	0.20519	T	0.43	-10.7972	13.198	0.59749	0.0:0.9226:0.0:0.0774	.	601	Q9H611	PIF1_HUMAN	I	601	ENSP00000268043:V601I;ENSP00000328174:V601I	ENSP00000268043:V601I	V	-	1	0	PIF1	62895891	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	4.931000	0.63469	1.482000	0.48325	0.655000	0.94253	GTT	PIF1	-	superfamily_P-loop_NTPase	ENSG00000140451		0.647	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIF1	HGNC	protein_coding	OTTHUMT00000256533.1	-	0	95	0	C	NM_025049		65108838	-1	tier1	-	no_errors	ENST00000333425	ensembl	human	known	74_37	missense	32.81	43	21	SNP	1.000	T	T	65108838	C	T	65108838	3	4	39	1	0	0	0	0	1	0	0	0	11922	507	18	3	132	3	PIF1	15	65108838	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8162135	65108838	37422554	249	9563											
CILP	8483	genome.wustl.edu	37	chr15	65499281	65499281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctagccgcaggggaCgggcacatacacggtcccca	9	4	13	15	3	1	0	0	0	1	0	2	2	2	1	4	4	3	2	4	4	2	2	rs376150356		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:65499281C>T	ENST00000261883.4	-	4	429	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	88					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCGCAGGGGACGGGCACATAC	0.617																																																	0								C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	42	36	38		263	1.5	1	15		38	0,8598		0,0,4299	no	missense	CILP	NM_003613.3	29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign	88/1185	65499281	1,12999	2201	4299	6500	SO:0001583	missense	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.263G>A	15.37:g.65499281C>T	ENSP00000261883:p.Arg88His		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R88H	ENST00000261883.4	37	c.263	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486358	0.44147	2.27E-4	0.0	ENSG00000138615	ENST00000261883	T	0.16897	2.31	5.58	1.51	0.23008	.	0.441491	0.25777	N	0.028366	T	0.12732	0.0309	L	0.37697	1.125	0.19300	N	0.99997	B	0.14012	0.009	B	0.10450	0.005	T	0.19943	-1.0290	10	0.54805	T	0.06	-18.7403	8.5221	0.33282	0.0:0.6663:0.0:0.3337	.	88	O75339	CILP1_HUMAN	H	88	ENSP00000261883:R88H	ENSP00000261883:R88H	R	-	2	0	CILP	63286334	0.007000	0.16637	0.971000	0.41717	0.925000	0.55904	0.143000	0.16115	0.022000	0.15160	0.561000	0.74099	CGT	CILP	-	NULL	ENSG00000138615		0.617	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	-	0	84	0	C	NM_003613		65499281	-1	tier1	-	no_errors	ENST00000261883	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.338	T	T	65499281	C	T	65499281	3	4	39	1	0	0	0	0	1	0	0	0	3436	536	19	1	3315	1	CILP	15	65499281	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	390443	65499281	37032111	250	9564											
LBXCOR1	390598	genome.wustl.edu	37	chr15	68119388	68119388	+	Frame_Shift_Del	DEL	A	A	-																															cggccttcggcctatgccccAaaaaggacgacccggtttta																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:68119388delA	ENST00000380035.2	+	2	1280	c.1222delA	c.(1222-1224)aaafs	p.K409fs	SKOR1_ENST00000341418.5_Frame_Shift_Del_p.K516fs|SKOR1_ENST00000389002.1_Frame_Shift_Del_p.K365fs|SKOR1_ENST00000554054.1_Frame_Shift_Del_p.K381fs|SKOR1_ENST00000554240.1_Frame_Shift_Del_p.K370fs			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	409					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCTATGCCCCAAAAAGGACGA	0.697																																																	0													16	21	19					15																	68119388		2189	4296	6485	SO:0001589	frameshift_variant	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.1222delA	15.37:g.68119388delA	ENSP00000369374:p.Lys409fs		A6NIP4|A6NJY0|Q2VWA5	Frame_Shift_Del	DEL	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.K409fs	ENST00000380035.2	37	c.1222		15																																																																																			SKOR1	-	NULL	ENSG00000188779		0.697	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1		0	16	0	A	NM_001031807		68119388	1			no_errors	ENST00000380035	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	0	-	68119388	A	-	68119388	7	5	39	1	0	1	0	1	0	0	0	0	8683	131	5	0	1100	0	LBXCOR1	15	68119388	Frame_Shift_Del	DEL	A	TCGA-JY-A6FG-01A-11D-A33E-09	2620107	68119388	34412004	251	9565											
CORO2B	10391	genome.wustl.edu	37	chr15	69003150	69003150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgcacgggcacagccGgcgtgtggggctggtcgagt	5	6	20	10	4	0	0	0	0	0	0	1	2	0	1	1	6	3	4	1	6	0	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:69003150G>A	ENST00000566799.1	+	4	442	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	CORO2B_ENST00000261861.5_Missense_Mutation_p.R133Q|CORO2B_ENST00000540068.1_Missense_Mutation_p.R133Q|CORO2B_ENST00000543950.1_Missense_Mutation_p.R133Q			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	138					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGCACAGCCGGCGTGTGGGG	0.652																																																	0													38	35	36					15																	69003150		2200	4297	6497	SO:0001583	missense	0			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.413G>A	15.37:g.69003150G>A	ENSP00000454783:p.Arg138Gln		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R138Q	ENST00000566799.1	37	c.413	CCDS10229.2	15	.	.	.	.	.	.	.	.	.	.	G	36	5.958119	0.97145	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.60171	0.21;0.21	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71195	0.3311	L	0.45051	1.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73107	-0.4087	10	0.87932	D	0	-25.1393	18.5079	0.90904	0.0:0.0:1.0:0.0	.	138	Q9UQ03	COR2B_HUMAN	Q	138;133;133	ENSP00000446250:R133Q;ENSP00000443819:R133Q	ENSP00000261861:R138Q	R	+	2	0	CORO2B	66790204	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.611000	0.98342	2.608000	0.88229	0.561000	0.74099	CGG	CORO2B	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103647		0.652	CORO2B-203	KNOWN	basic|CCDS	protein_coding	CORO2B	HGNC	protein_coding		-	0	58	0	G	NM_006091		69003150	1	tier1	-	no_errors	ENST00000566799	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	A	A	69003150	G	A	69003150	3	1	39	1	0	0	0	0	1	0	0	0	3764	1116	39	1	427	1	CORO2B	15	69003150	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	883762	69003150	33528242	252	9566											
SENP8	123228	genome.wustl.edu	37	chr15	72432600	72432600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaccacacttgctaaaaaGtagctattgaagtatatttg	15	14	6	6	0	0	1	0	1	0	0	0	1	0	1	1	0	3	4	1	0	9	9			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:72432600G>T	ENST00000542035.2	+	2	969	c.636G>T	c.(634-636)aaG>aaT	p.K212N	SENP8_ENST00000340912.4_Missense_Mutation_p.K212N|SENP8_ENST00000544171.1_Missense_Mutation_p.K212N|SENP8_ENST00000544411.1_Missense_Mutation_p.K212N|RP11-2I17.4_ENST00000568984.1_RNA	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	212							cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						TTGCTAAAAAGTAGCTATTGA	0.458																																																	0													47	42	44					15																	72432600		2199	4297	6496	SO:0001583	missense	0			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.636G>T	15.37:g.72432600G>T	ENSP00000446057:p.Lys212Asn		Q96QA4	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.K212N	ENST00000542035.2	37	c.636	CCDS10240.1	15	.	.	.	.	.	.	.	.	.	.	G	11.44	1.640811	0.29157	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.76	-3.08	0.05347	.	0.444472	0.24628	N	0.036903	T	0.32466	0.0830	L	0.54323	1.7	0.38162	D	0.939062	B	0.02656	0.0	B	0.01281	0.0	T	0.10154	-1.0642	10	0.72032	D	0.01	0.7309	2.4439	0.04501	0.1577:0.1503:0.4267:0.2653	.	212	Q96LD8	SENP8_HUMAN	N	212	ENSP00000446057:K212N;ENSP00000441753:K212N;ENSP00000340505:K212N;ENSP00000439415:K212N	ENSP00000340505:K212N	K	+	3	2	SENP8	70219654	0.322000	0.24634	0.767000	0.31495	0.036000	0.12997	0.395000	0.20850	-0.103000	0.12175	-0.282000	0.10007	AAG	SENP8	-	NULL	ENSG00000166192		0.458	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP8	HGNC	protein_coding	OTTHUMT00000420036.1	-	0	8	0	G	NM_145204		72432600	1	tier1	-	no_errors	ENST00000340912	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.699	T	T	72432600	G	T	72432600	3	4	39	1	0	0	0	0	1	0	0	0	14097	1020	36	3	638	3	SENP8	15	72432600	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	3429450	72432600	30098792	253	9567											
GRAMD2	196996	genome.wustl.edu	37	chr15	72456023	72456023	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatgatggagggatacaagGgatgttgtctgggagagaca	12	8	18	3	0	1	2	0	1	1	1	1	8	1	7	0	5	1	1	0	5	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:72456023G>C	ENST00000309731.7	-	9	689	c.676C>G	c.(676-678)Cct>Gct	p.P226A	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	226						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGGATACAAGGGATGTTGTCT	0.532																																																	0													126	105	112					15																	72456023		2199	4297	6496	SO:0001583	missense	0			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.676C>G	15.37:g.72456023G>C	ENSP00000311657:p.Pro226Ala		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.P226A	ENST00000309731.7	37	c.676	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	G	7.608	0.674124	0.14841	.	.	ENSG00000175318	ENST00000309731	T	0.34072	1.38	5.19	3.29	0.37713	.	0.567041	0.17818	N	0.160966	T	0.23451	0.0567	L	0.50333	1.59	0.09310	N	0.999999	P	0.39282	0.666	B	0.30179	0.112	T	0.13045	-1.0524	10	0.10636	T	0.68	.	8.1781	0.31294	0.1903:0.0:0.8097:0.0	.	226	Q8IUY3	GRAM2_HUMAN	A	226	ENSP00000311657:P226A	ENSP00000311657:P226A	P	-	1	0	GRAMD2	70243077	1.000000	0.71417	0.018000	0.16275	0.008000	0.06430	2.155000	0.42301	0.558000	0.29135	0.655000	0.94253	CCT	GRAMD2	-	NULL	ENSG00000175318		0.532	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	-	0	33	0	G	NM_001012642		72456023	-1	tier1	-	no_errors	ENST00000309731	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.401	C	C	72456023	G	C	72456023	3	2	39	1	0	0	0	0	1	0	0	0	6777	1232	43	5	404	5	GRAMD2	15	72456023	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	23423	72456023	30075369	254	9568											
CHSY1	22856	genome.wustl.edu	37	chr15	101775550	101775550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttcaaactcctcaGgaagttctccagacggtctc	8	11	9	13	1	4	1	2	0	2	1	7	2	5	2	2	2	2	4	2	2	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr15:101775550G>T	ENST00000254190.3	-	2	1028	c.553C>A	c.(553-555)Ctg>Atg	p.L185M		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	185					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAACTCCTCAGGAAGTTCTCC	0.512																																																	0													73	71	72					15																	101775550		2203	4300	6503	SO:0001583	missense	0			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.553C>A	15.37:g.101775550G>T	ENSP00000254190:p.Leu185Met		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.L185M	ENST00000254190.3	37	c.553	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115965	0.77323	.	.	ENSG00000131873	ENST00000254190	D	0.87650	-2.28	5.48	4.57	0.56435	.	0.000000	0.64402	D	0.000018	D	0.94245	0.8152	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94555	0.7757	10	0.87932	D	0	-24.8062	10.4458	0.44493	0.1478:0.0:0.8522:0.0	.	185	Q86X52	CHSS1_HUMAN	M	185	ENSP00000254190:L185M	ENSP00000254190:L185M	L	-	1	2	CHSY1	99593073	1.000000	0.71417	0.918000	0.36340	0.969000	0.65631	4.870000	0.63035	1.317000	0.45149	0.655000	0.94253	CTG	CHSY1	-	pfam_Fringe-like	ENSG00000131873		0.512	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	-	0	50	0	G	NM_014918		101775550	-1	tier1	-	no_errors	ENST00000254190	ensembl	human	known	74_37	missense	7.69	47	4	SNP	1.000	T	T	101775550	G	T	101775550	3	4	39	1	0	0	0	0	1	0	0	0	3419	991	35	3	1863	3	CHSY1	15	101775550	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	29319527	101775550	755842	255	9569											
WDR90	197335	genome.wustl.edu	37	chr16	708985	708985	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggacgccgtcttcctCtgggatgtcctggcccctac	4	9	13	15	2	2	0	0	0	2	0	4	2	4	2	5	4	1	1	5	4	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:708985C>A	ENST00000293879.4	+	24	2985	c.2985C>A	c.(2983-2985)ctC>ctA	p.L995L	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.L995L			Q96KV7	WDR90_HUMAN	WD repeat domain 90	995										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGTCTTCCTCTGGGATGTCC	0.642																																																	0													77	95	89					16																	708985		2110	4220	6330	SO:0001819	synonymous_variant	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2985C>A	16.37:g.708985C>A			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L995	ENST00000293879.4	37	c.2985	CCDS42092.1	16																																																																																			WDR90	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000161996		0.642	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	-	0	92	0	C	NM_145294		708985	1	tier1	-	no_errors	ENST00000549091	ensembl	human	novel	74_37	silent	46.77	33	29	SNP	0.969	A	A	708985	C	A	708985	2	1	39	1	0	0	0	0	0	0	0	1	17386	900	32	3		3	WDR90	16	708985	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		708985	89645768	256	9570											
IFT140	9742	genome.wustl.edu	37	chr16	1621406	1621406	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctatttggaaaaaaaatttAccttcgggaaagatcaaagc	17	11	7	6	1	2	1	1	0	1	1	3	3	2	3	1	2	2	0	1	2	8	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:1621406A>G	ENST00000426508.2	-	14	2016		c.e14+1		IFT140_ENST00000439987.2_Splice_Site	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140						cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AAAAAAATTTACCTTCGGGAA	0.428																																																	0													46	47	47					16																	1621406		2199	4300	6499	SO:0001630	splice_region_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1652+1T>C	16.37:g.1621406A>G			A2A2A8|D3DU75|O60332|Q9UG52	Splice_Site	SNP	-	e12+2	ENST00000426508.2	37	c.1652+2	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	A	16.77	3.215028	0.58452	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7486	0.77967	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IFT140	1561407	1.000000	0.71417	0.994000	0.49952	0.768000	0.43524	8.070000	0.89493	2.202000	0.70862	0.533000	0.62120	.	IFT140	-	-	ENSG00000187535		0.428	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	102	0	A	NM_014714	Intron	1621406	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	splice_site	42.53	49	37	SNP	1.000	G	G	1621406	A	G	1621406	5	3	39	1	0	0	0	0	0	0	1	0	7583	405	14	4	2806	4	IFT140	16	1621406	Splice_Site	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	912421	1621406	88733347	257	9571											
ZNF200	7752	genome.wustl.edu	37	chr16	3283719	3283719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtataaaggactgctttgGctttgggggcataggaacca	11	10	13	7	0	0	0	0	0	0	0	0	2	0	2	1	5	2	4	1	5	5	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:3283719G>T	ENST00000431561.3	-	2	649	c.37C>A	c.(37-39)Cca>Aca	p.P13T	ZNF200_ENST00000396868.3_Missense_Mutation_p.P13T|ZNF200_ENST00000414144.2_Missense_Mutation_p.P13T|ZNF200_ENST00000575948.1_Missense_Mutation_p.P13T|ZNF200_ENST00000396871.4_Missense_Mutation_p.P13T|ZNF200_ENST00000396870.4_Missense_Mutation_p.P13T	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GACTGCTTTGGCTTTGGGGGC	0.547																																																	0													140	133	135					16																	3283719		2197	4300	6497	SO:0001583	missense	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.37C>A	16.37:g.3283719G>T	ENSP00000395723:p.Pro13Thr		D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P13T	ENST00000431561.3	37	c.37	CCDS10497.1	16	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392766	0.25118	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T;T	0.06933	3.24;3.25;3.24;3.32;3.32	4.89	2.85	0.33270	.	0.183522	0.26828	N	0.022299	T	0.07548	0.0190	L	0.36672	1.1	0.23913	N	0.996484	B;B;B	0.26809	0.099;0.099;0.16	B;B;B	0.31337	0.06;0.06;0.128	T	0.27905	-1.0060	10	0.49607	T	0.09	-0.1147	7.0147	0.24881	0.2265:0.0:0.7735:0.0	.	13;13;13	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	T	13	ENSP00000380079:P13T;ENSP00000380077:P13T;ENSP00000380080:P13T;ENSP00000405786:P13T;ENSP00000395723:P13T	ENSP00000380077:P13T	P	-	1	0	ZNF200	3223720	0.954000	0.32549	0.995000	0.50966	0.836000	0.47400	0.295000	0.19065	0.521000	0.28445	0.609000	0.83330	CCA	ZNF200	-	NULL	ENSG00000010539		0.547	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1	-	0	89	0	G			3283719	-1	tier1	-	no_errors	ENST00000414144	ensembl	human	known	74_37	missense	5.71	65	4	SNP	0.996	T	T	3283719	G	T	3283719	3	4	39	1	0	0	0	0	1	0	0	0	17810	1203	42	3	1166	3	ZNF200	16	3283719	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1662313	3283719	87071034	258	9572											
ZNF174	7727	genome.wustl.edu	37	chr16	3454446	3454446	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggccgtttgtatgcagggGcaaaaggtgctcttggagaa	9	10	16	6	1	1	1	0	0	1	1	1	2	1	1	1	5	2	5	1	5	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:3454446G>T	ENST00000268655.4	+	2	1008	c.423G>T	c.(421-423)ggG>ggT	p.G141G	ZNF174_ENST00000572544.1_Silent_p.G141G|ZNF174_ENST00000571936.1_Silent_p.G141G|ZNF174_ENST00000575752.1_Silent_p.G141G|ZNF174_ENST00000344823.5_Silent_p.G141G	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	141					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GTATGCAGGGGCAAAAGGTGC	0.502																																																	0													116	125	122					16																	3454446		2197	4300	6497	SO:0001819	synonymous_variant	0			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.423G>T	16.37:g.3454446G>T			Q53Y68|Q9BQ34	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G141	ENST00000268655.4	37	c.423	CCDS10504.1	16																																																																																			ZNF174	-	smart_Tscrpt_reg_SCAN	ENSG00000103343		0.502	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1		0	67	0	G	NM_003450		3454446	1			no_errors	ENST00000268655	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	T	T	3454446	G	T	3454446	2	4	39	1	0	0	0	0	0	0	0	1	17792	1190	42	3		3	ZNF174	16	3454446	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	170727	3454446	86900307	259	9573											
ADCY9	115	genome.wustl.edu	37	chr16	4016810	4016810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccgcttccacgtctcCgtggtagtggaggcggtagc	7	9	14	11	4	1	1	0	0	1	1	4	2	3	2	3	4	1	3	3	4	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:4016810C>T	ENST00000294016.3	-	11	3566	c.3028G>A	c.(3028-3030)Gga>Aga	p.G1010R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1010					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCACGTCTCCGTGGTAGTGG	0.572																																																	0													118	110	113					16																	4016810		2197	4300	6497	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3028G>A	16.37:g.4016810C>T	ENSP00000294016:p.Gly1010Arg		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G1010R	ENST00000294016.3	37	c.3028	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430981	0.83776	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88776	0.3267	10	0.39692	T	0.17	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	1010	O60503	ADCY9_HUMAN	R	1010	ENSP00000294016:G1010R	ENSP00000294016:G1010R	G	-	1	0	ADCY9	3956811	1.000000	0.71417	0.984000	0.44739	0.839000	0.47603	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	GGA	ADCY9	-	NULL	ENSG00000162104		0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0	52	0	C			4016810	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	50.00	22	22	SNP	1.000	T	T	4016810	C	T	4016810	3	4	39	1	0	0	0	0	1	0	0	0	301	661	23	1	1037	1	ADCY9	16	4016810	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	562364	4016810	86337943	260	9574											
ATF7IP2	80063	genome.wustl.edu	37	chr16	10575953	10575953	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaagaagattggagaaatTaaagctttaccactccccat	15	10	8	8	0	0	3	0	0	0	3	1	5	1	4	3	2	2	1	3	2	6	4	rs558578447		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:10575953T>A	ENST00000396560.2	+	12	2123	c.1896T>A	c.(1894-1896)atT>atA	p.I632I	ATF7IP2_ENST00000324570.5_3'UTR|ATF7IP2_ENST00000356427.2_Silent_p.I632I|ATF7IP2_ENST00000543967.1_Silent_p.I176I|ATF7IP2_ENST00000396559.1_3'UTR	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	632	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTGGAGAAATTAAAGCTTTAC	0.373																																																	0													111	112	112					16																	10575953		2197	4300	6497	SO:0001819	synonymous_variant	0			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1896T>A	16.37:g.10575953T>A			B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	superfamily_Fibronectin_type3	p.I632	ENST00000396560.2	37	c.1896	CCDS10540.1	16																																																																																			ATF7IP2	-	superfamily_Fibronectin_type3	ENSG00000166669		0.373	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	-	0	30	0	T	NM_024997		10575953	1	tier1	-	no_errors	ENST00000356427	ensembl	human	known	74_37	silent	29.41	48	20	SNP	0.996	A	A	10575953	T	A	10575953	2	1	39	1	0	0	0	0	0	0	0	1	1089	1742	61	5		5	ATF7IP2	16	10575953	Silent	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	6559143	10575953	79778800	261	9575											
CLEC16A	23274	genome.wustl.edu	37	chr16	11097121	11097121	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaggctaaaggtacagAgggtggttcaaaaggcatca	15	6	14	6	1	2	2	2	0	0	2	2	3	2	2	0	5	1	4	0	5	6	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:11097121A>C	ENST00000409790.1	+	11	1492	c.1262A>C	c.(1261-1263)gAg>gCg	p.E421A	CLEC16A_ENST00000409552.3_Intron	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAAGGTACAGAGGGTGGTTCA	0.582																																																	0													76	89	85					16																	11097121		2045	4186	6231	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1262A>C	16.37:g.11097121A>C	ENSP00000387122:p.Glu421Ala			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.E421A	ENST00000409790.1	37	c.1262	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308267	0.81247	.	.	ENSG00000038532	ENST00000409790;ENST00000542102	T	0.49139	0.79	5.62	5.62	0.85841	.	0.069428	0.56097	D	0.000031	T	0.52025	0.1709	L	0.54323	1.7	0.80722	D	1	P	0.51351	0.944	P	0.49085	0.6	T	0.49303	-0.8954	10	0.33141	T	0.24	-20.5721	14.9985	0.71451	1.0:0.0:0.0:0.0	.	421	Q2KHT3	CL16A_HUMAN	A	421	ENSP00000387122:E421A	ENSP00000387122:E421A	E	+	2	0	CLEC16A	11004622	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.229000	0.72294	2.151000	0.67156	0.533000	0.62120	GAG	CLEC16A	-	NULL	ENSG00000038532		0.582	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0	108	0	A	NM_015226		11097121	1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	30.30	46	20	SNP	1.000	C	C	11097121	A	C	11097121	3	2	39	1	0	0	0	0	1	0	0	0	3507	304	11	4	1300	4	CLEC16A	16	11097121	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	521168	11097121	79257632	262	9576											
USP31	57478	genome.wustl.edu	37	chr16	23091494	23091494	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcgcctgtctccttccTgttgcaagaagaaaaacaag	12	10	8	11	1	2	2	1	0	1	2	4	2	3	2	3	0	3	2	3	0	5	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:23091494T>G	ENST00000219689.7	-	13	1950		c.e13-2			NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTCTCCTTCCTGTTGCAAGAA	0.478																																																	0													81	77	79					16																	23091494		2197	4300	6497	SO:0001630	splice_region_variant	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1951-2A>C	16.37:g.23091494T>G			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Splice_Site	SNP	-	e13-2	ENST00000219689.7	37	c.1951-2	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111069	0.77210	.	.	ENSG00000103404	ENST00000219689	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9063	0.63839	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP31	22998995	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.336000	0.79245	1.878000	0.54408	0.455000	0.32223	.	USP31	-	-	ENSG00000103404		0.478	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	-	0	21	0	T	NM_020718	Intron	23091494	-1	tier1	-	no_errors	ENST00000219689	ensembl	human	known	74_37	splice_site	33.33	24	12	SNP	1.000	G	G	23091494	T	G	23091494	5	3	39	1	0	0	0	0	0	0	1	0	17111	1594	55	4	2125	4	USP31	16	23091494	Splice_Site	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	11994373	23091494	67263259	263	9577											
ERN2	10595	genome.wustl.edu	37	chr16	23713995	23713995	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagagacatagaagccagTttcatccttccccacataca	13	11	5	12	0	1	2	1	0	0	2	3	3	3	2	4	0	2	1	4	0	4	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:23713995T>G	ENST00000457008.2	-	9	921	c.883A>C	c.(883-885)Act>Cct	p.T295P	ERN2_ENST00000256797.4_Missense_Mutation_p.T343P					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TAGAAGCCAGTTTCATCCTTC	0.473																																																	0													144	130	135					16																	23713995		2197	4300	6497	SO:0001583	missense	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.883A>C	16.37:g.23713995T>G	ENSP00000413812:p.Thr295Pro			Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.T343P	ENST00000457008.2	37	c.1027		16	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540329	0.27563	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.61158	0.13;0.19	6.07	2.99	0.34606	.	0.407958	0.29624	N	0.011629	T	0.43010	0.1228	L	0.42245	1.32	0.21325	N	0.999723	P;B;B	0.35944	0.529;0.026;0.108	B;B;B	0.33392	0.163;0.028;0.046	T	0.18808	-1.0325	10	0.23891	T	0.37	.	8.0798	0.30737	0.0:0.6871:0.0:0.3129	.	295;295;295	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	P	343;295	ENSP00000256797:T343P;ENSP00000413812:T295P	ENSP00000256797:T343P	T	-	1	0	ERN2	23621496	0.001000	0.12720	0.853000	0.33588	0.964000	0.63967	-0.115000	0.10741	0.458000	0.26988	-0.182000	0.12963	ACT	ERN2	-	NULL	ENSG00000134398		0.473	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1	-	0	38	0	T			23713995	-1	tier1	-	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.246	G	G	23713995	T	G	23713995	3	3	39	1	0	0	0	0	1	0	0	0	5254	1725	60	4	1953	4	ERN2	16	23713995	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	622501	23713995	66640758	264	9578											
PYDC1	260434	genome.wustl.edu	37	chr16	31228224	31228224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctagctgcccgagcgcGccccgcgggatgcgctcaaa	8	6	12	15	6	2	0	1	0	1	0	2	2	2	1	3	1	4	2	3	1	3	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:31228224G>A	ENST00000302964.3	-	1	456	c.126C>T	c.(124-126)ggC>ggT	p.G42G	TRIM72_ENST00000322122.3_Intron|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	42	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GCCCGAGCGCGCCCCGCGGGA	0.642																																																	0													63	58	59					16																	31228224		2197	4299	6496	SO:0001819	synonymous_variant	0				CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"pyrin domain containing 1"			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.126C>T	16.37:g.31228224G>A			B2R8L4|Q8NFP8	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	p.G42	ENST00000302964.3	37	c.126	CCDS10710.1	16																																																																																			PYDC1	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000169900		0.642	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYDC1	HGNC	protein_coding	OTTHUMT00000255543.2	-	0	56	0	G	NM_152901		31228224	-1	tier1	-	no_errors	ENST00000302964	ensembl	human	known	74_37	silent	35.71	18	10	SNP	0.000	A	A	31228224	G	A	31228224	2	1	39	1	0	0	0	0	0	0	0	1	12903	1074	38	1		1	PYDC1	16	31228224	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	7514229	31228224	59126529	265	9579											
HYDIN	54768	genome.wustl.edu	37	chr16	70897063	70897063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaattccagctggacacGtcctgaattaatcacatcga	12	10	8	11	2	1	2	1	2	0	0	4	4	3	3	2	1	1	2	2	1	3	2	rs201571332	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:70897063G>A	ENST00000393567.2	-	68	11644	c.11494C>T	c.(11494-11496)Cgt>Tgt	p.R3832C		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3832					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.R3831S(2)|p.R3783S(2)|p.R3831C(1)|p.R3783C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTGGACACGTCCTGAATTA	0.463													G|||	2	0.000399361	0	0	5008	,	,		17275	0.001		0.001	False		,,,				2504	0																6	Substitution - Missense(6)	lung(4)|endometrium(2)						G	CYS/ARG	0,3768		0,0,1884	64	58	60		11491	0	0.2	16		60	5,8197		0,5,4096	yes	missense	HYDIN	NM_032821.2	180	0,5,5980	AA,AG,GG		0.061,0.0,0.0418	probably-damaging	3831/5121	70897063	5,11965	1884	4101	5985	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11494C>T	16.37:g.70897063G>A	ENSP00000377197:p.Arg3832Cys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.R3832C	ENST00000393567.2	37	c.11494	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	9.075	0.997889	0.19043	0.0	6.1E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00892	5.57	5.36	-0.0206	0.13955	.	1.091040	0.07492	U	0.905798	T	0.00754	0.0025	N	0.08118	0	0.27332	N	0.956731	D	0.63046	0.992	B	0.42851	0.4	T	0.55711	-0.8098	10	0.56958	D	0.05	.	8.0021	0.30304	0.0:0.1037:0.3633:0.5331	.	3831	F8WD23	.	C	3832;3831	ENSP00000377197:R3832C	ENSP00000313052:R3831C	R	-	1	0	HYDIN	69454564	0.031000	0.19500	0.159000	0.22649	0.181000	0.23173	-0.081000	0.11321	0.104000	0.17725	0.511000	0.50034	CGT	HYDIN	-	NULL	ENSG00000157423		0.463	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	17	0	G			70897063	-1	tier1	rs201571332	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	32.00	17	8	SNP	0.043	A	A	70897063	G	A	70897063	3	1	39	1	0	0	0	0	1	0	0	0	7494	1145	40	1	3947	1	HYDIN	16	70897063	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	39668839	70897063	19457690	266	9580											
ANKRD11	29123	genome.wustl.edu	37	chr16	89351637	89351637	+	Frame_Shift_Del	DEL	T	T	-																															cattagaaggctctcgtgtcTtactaccaggcaatatcgta																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr16:89351637delT	ENST00000301030.4	-	9	1773	c.1313delA	c.(1312-1314)aagfs	p.K438fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.K438fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	438					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTCTCGTGTCTTACTACCAGG	0.493																																																	0													79	72	74					16																	89351637		2198	4300	6498	SO:0001589	frameshift_variant	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1313delA	16.37:g.89351637delT	ENSP00000301030:p.Lys438fs		Q6NTG1|Q6QMF8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K438fs	ENST00000301030.4	37	c.1313	CCDS32513.1	16																																																																																			ANKRD11	-	NULL	ENSG00000167522		0.493	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3		0	16	0	T	NM_013275		89351637	-1	tier1		no_errors	ENST00000301030	ensembl	human	known	74_37	frame_shift_del	45.45	6	5	DEL	0.636	-	-	89351637	T	-	89351637	7	5	39	1	0	1	0	1	0	0	0	0	639	1609	56	0	6698	0	ANKRD11	16	89351637	Frame_Shift_Del	DEL	T	TCGA-JY-A6FG-01A-11D-A33E-09	18454574	89351637	1003116	267	9581											
PRPF8	10594	genome.wustl.edu	37	chr17	1582171	1582171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaaaacgagatttctttCtttcctggagaagatgcaaa	13	12	7	9	1	2	3	0	0	2	3	4	5	4	3	2	1	2	1	2	1	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:1582171C>T	ENST00000572621.1	-	11	1869	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K	PRPF8_ENST00000304992.6_Missense_Mutation_p.R535K			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	535					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGATTTCTTTCTTTCCTGGAG	0.468																																																	0													63	60	61					17																	1582171		2203	4300	6503	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1604G>A	17.37:g.1582171C>T	ENSP00000460348:p.Arg535Lys		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.R535K	ENST00000572621.1	37	c.1604	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426451	0.83667	.	.	ENSG00000174231	ENST00000304992	D	0.82255	-1.59	6.07	6.07	0.98685	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.93184	0.6577	10	0.49607	T	0.09	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	535	Q6P2Q9	PRP8_HUMAN	K	535	ENSP00000304350:R535K	ENSP00000304350:R535K	R	-	2	0	PRPF8	1528921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.703000	0.84585	2.890000	0.99128	0.650000	0.86243	AGA	PRPF8	-	pfam_PROCN,superfamily_Histone-fold	ENSG00000174231		0.468	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	-	0	33	0	C			1582171	-1	tier1	-	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	T	T	1582171	C	T	1582171	3	4	39	1	0	0	0	0	1	0	0	0	12617	913	32	3	5531	3	PRPF8	17	1582171	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		1582171	79613039	268	9582											
TP53	7157	genome.wustl.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0	36	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	42.42	19	14	SNP	0.864	T	T	7577120	C	T	7577120	3	4	39	1	0	0	0	0	1	0	0	0	16429	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5994949	7577120	73618090	269	9583											
SREBF1	6720	genome.wustl.edu	37	chr17	17719808	17719808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagcttatggtagaccagGgctgcgtctcgggcgctggc	5	9	16	11	3	1	1	0	0	1	1	2	1	1	1	1	4	3	5	1	4	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:17719808G>A	ENST00000261646.5	-	10	2194	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	SREBF1_ENST00000355815.4_Silent_p.A700A|SREBF1_ENST00000583732.1_5'Flank|SREBF1_ENST00000395757.1_Silent_p.A416A|SREBF1_ENST00000338854.5_Silent_p.A670A|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	670					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGTAGACCAGGGCTGCGTCTC	0.692																																																	0													12	11	11					17																	17719808		2178	4279	6457	SO:0001819	synonymous_variant	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2010C>T	17.37:g.17719808G>A			B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A700	ENST00000261646.5	37	c.2100	CCDS11189.1	17	.	.	.	.	.	.	.	.	.	.	G	6.520	0.464252	0.12402	.	.	ENSG00000072310	ENST00000395751	.	.	.	5.4	1.14	0.20703	.	.	.	.	.	T	0.43033	0.1229	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.20140	-1.0284	4	.	.	.	-19.846	2.2345	0.04004	0.2206:0.131:0.5131:0.1353	.	.	.	.	S	678	.	.	P	-	1	0	SREBF1	17660533	0.004000	0.15560	0.172000	0.22920	0.484000	0.33280	-1.076000	0.03420	0.005000	0.14708	0.561000	0.74099	CCT	SREBF1	-	NULL	ENSG00000072310		0.692	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	-	0	96	0	G	NM_004176		17719808	-1	tier1	-	no_errors	ENST00000355815	ensembl	human	known	74_37	silent	45.28	29	24	SNP	0.981	A	A	17719808	G	A	17719808	2	1	39	1	0	0	0	0	0	0	0	1	15188	1219	43	3		3	SREBF1	17	17719808	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10142688	17719808	63475402	270	9584											
UNC45B	146862	genome.wustl.edu	37	chr17	33481676	33481676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggagtagccttgctactGcagcttctggacactaagaa	12	10	10	9	0	1	1	0	0	1	1	1	3	1	3	1	2	5	4	1	2	5	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:33481676G>A	ENST00000268876.5	+	6	652	c.555G>A	c.(553-555)ctG>ctA	p.L185L	UNC45B_ENST00000394570.2_Silent_p.L185L|UNC45B_ENST00000591048.1_Silent_p.L185L|UNC45B_ENST00000378449.1_Silent_p.L185L|UNC45B_ENST00000433649.1_Silent_p.L185L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	185					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCTTGCTACTGCAGCTTCTGG	0.582																																																	0													92	79	84					17																	33481676		2203	4300	6503	SO:0001819	synonymous_variant	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.555G>A	17.37:g.33481676G>A			Q495Q8|Q495Q9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L185	ENST00000268876.5	37	c.555	CCDS11292.1	17																																																																																			UNC45B	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000141161		0.582	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2		0	69	0	G	NM_173167		33481676	1			no_errors	ENST00000268876	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	A	A	33481676	G	A	33481676	2	1	39	1	0	0	0	0	0	0	0	1	17038	1306	46	3		3	UNC45B	17	33481676	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	15761868	33481676	47713534	271	9585											
ACACA	31	genome.wustl.edu	37	chr17	35518913	35518913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacaatgatatctcggcCttctggatattcaggacttt	12	14	7	8	1	3	1	1	1	2	0	4	3	3	3	1	3	1	0	1	3	5	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:35518913C>T	ENST00000394406.2	-	42	5210	c.5020G>A	c.(5020-5022)Ggc>Agc	p.G1674S	ACACA_ENST00000360679.3_Missense_Mutation_p.G1616S|ACACA_ENST00000361253.5_5'Flank|ACACA_ENST00000353139.5_Missense_Mutation_p.G1711S|ACACA_ENST00000335166.5_Missense_Mutation_p.G1596S	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1674					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATATCTCGGCCTTCTGGATAT	0.408																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													79	73	75					17																	35518913		2203	4300	6503	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5020G>A	17.37:g.35518913C>T	ENSP00000377928:p.Gly1674Ser		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.G1711S	ENST00000394406.2	37	c.5131	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.580486	0.96565	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330	D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72	5.22	5.22	0.72569	Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99573	0.9846	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98147	1.0439	10	0.87932	D	0	-12.5231	19.2127	0.93763	0.0:1.0:0.0:0.0	.	373;1711;1674;1616	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	S	1711;1616;1674;1698;1596;373	ENSP00000344789:G1711S;ENSP00000353898:G1616S;ENSP00000377928:G1674S;ENSP00000335323:G1596S	ENSP00000335323:G1596S	G	-	1	0	ACACA	32593026	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.766000	0.85320	2.624000	0.88883	0.447000	0.29281	GGC	ACACA	-	pfam_Carboxyl_trans	ENSG00000132142		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	33	0	C	NM_198836		35518913	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.801	T	T	35518913	C	T	35518913	3	4	39	1	0	0	0	0	1	0	0	0	106	681	24	3	2080	3	ACACA	17	35518913	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2037237	35518913	45676297	272	9586											
KCNH4	23415	genome.wustl.edu	37	chr17	40315780	40315780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggggataaggaaggagagGagacaagggctgagaatggg	15	4	20	2	0	0	3	0	1	0	3	0	8	0	5	0	7	0	1	0	7	4	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:40315780G>A	ENST00000264661.3	-	13	2653	c.2321C>T	c.(2320-2322)tCc>tTc	p.S774F	KCNH4_ENST00000607371.1_Missense_Mutation_p.S774F	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	774					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAAGGAGAGGAGACAAGGGC	0.697																																					NSCLC(117;707 1703 2300 21308 31858)												0													15	16	16					17																	40315780		2181	4279	6460	SO:0001583	missense	0			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2321C>T	17.37:g.40315780G>A	ENSP00000264661:p.Ser774Phe			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S774F	ENST00000264661.3	37	c.2321	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969415	0.53614	.	.	ENSG00000089558	ENST00000264661	D	0.98835	-5.17	5.25	5.25	0.73442	.	0.000000	0.33364	N	0.004994	D	0.96479	0.8851	L	0.40543	1.245	0.39058	D	0.960468	B	0.18863	0.031	B	0.15870	0.014	D	0.94805	0.7974	10	0.46703	T	0.11	.	12.9289	0.58276	0.0:0.0:0.8382:0.1618	.	774	Q9UQ05	KCNH4_HUMAN	F	774	ENSP00000264661:S774F	ENSP00000264661:S774F	S	-	2	0	KCNH4	37569306	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.489000	0.60309	2.464000	0.83262	0.484000	0.47621	TCC	KCNH4	-	NULL	ENSG00000089558		0.697	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	-	0	84	0	G	NM_012285		40315780	-1	tier1	-	no_errors	ENST00000264661	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	A	A	40315780	G	A	40315780	3	1	39	1	0	0	0	0	1	0	0	0	8061	1174	41	3	748	3	KCNH4	17	40315780	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4796867	40315780	40879430	273	9587											
TMEM101	84336	genome.wustl.edu	37	chr17	42092301	42092301	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaacatccaccgtctcGaacctatcttcgacgccatc	9	9	6	17	4	2	0	0	0	2	0	6	2	3	0	4	0	3	2	4	0	3	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:42092301G>T	ENST00000589334.1	-	2	335	c.20C>A	c.(19-21)tCg>tAg	p.S7*	TMEM101_ENST00000206380.3_Nonsense_Mutation_p.S7*|TMEM101_ENST00000542039.1_Intron|TMEM101_ENST00000587529.1_Nonsense_Mutation_p.S7*			Q96IK0	TM101_HUMAN	transmembrane protein 101	7					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCACCGTCTCGAACCTATCTT	0.612																																																	0													95	83	87					17																	42092301		2203	4300	6503	SO:0001587	stop_gained	0			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.20C>A	17.37:g.42092301G>T	ENSP00000468025:p.Ser7*		B2R9N6	Nonsense_Mutation	SNP	NULL	p.S7*	ENST00000589334.1	37	c.20	CCDS11474.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.644007	0.96704	.	.	ENSG00000091947	ENST00000206380	.	.	.	5.76	2.46	0.29980	.	0.726789	0.13067	N	0.416425	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-15.9849	14.8278	0.70128	0.0:0.6284:0.3715:0.0	.	.	.	.	X	7	.	ENSP00000206380:S7X	S	-	2	0	TMEM101	39447827	0.988000	0.35896	0.999000	0.59377	0.986000	0.74619	1.158000	0.31737	0.732000	0.32470	-0.282000	0.10007	TCG	TMEM101	-	NULL	ENSG00000091947		0.612	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	HGNC	protein_coding	OTTHUMT00000457665.1	-	0	52	0	G	NM_032376		42092301	-1	tier1	-	no_errors	ENST00000206380	ensembl	human	known	74_37	nonsense	57.69	11	15	SNP	1.000	T	T	42092301	G	T	42092301	4	4	39	1	0	0	0	0	0	1	0	0	16063	1059	37	2	769	2	TMEM101	17	42092301	Nonsense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1776521	42092301	39102909	274	9588											
C17orf71	55181	genome.wustl.edu	37	chr17	57288293	57288293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagacaagcccaagaaacAttctcccaaaaggaggctgc	15	5	8	13	0	1	2	0	0	1	2	3	3	2	3	3	2	3	1	3	2	5	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:57288293A>G	ENST00000543872.2	+	2	1145	c.881A>G	c.(880-882)cAt>cGt	p.H294R	SMG8_ENST00000300917.5_Missense_Mutation_p.H294R|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.H294R			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	294					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CCCAAGAAACATTCTCCCAAA	0.502																																																	0													65	69	67					17																	57288293		2203	4300	6503	SO:0001583	missense	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.881A>G	17.37:g.57288293A>G	ENSP00000438748:p.His294Arg		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.H294R	ENST00000543872.2	37	c.881	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587544	0.46110	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.39056	1.1;1.1	5.88	5.88	0.94601	.	0.084546	0.85682	D	0.000000	T	0.54967	0.1891	L	0.43152	1.355	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.46679	-0.9174	10	0.19147	T	0.46	-20.3244	15.4686	0.75422	1.0:0.0:0.0:0.0	.	294	Q8ND04	SMG8_HUMAN	R	294	ENSP00000300917:H294R;ENSP00000438748:H294R	ENSP00000300917:H294R	H	+	2	0	SMG8	54643075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.957000	0.93082	2.235000	0.73313	0.533000	0.62120	CAT	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.502	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0	33	0	A	NM_018149		57288293	1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	G	G	57288293	A	G	57288293	3	3	39	1	0	0	0	0	1	0	0	0	1884	217	8	4	883	4	C17orf71	17	57288293	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	15195992	57288293	23906917	275	9589											
ABCA10	10349	genome.wustl.edu	37	chr17	67218779	67218780	+	Frame_Shift_Ins	INS	-	-	T																															actcccaccatttcatggtaINStttttttggaagttctatat																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:67218779_67218780insT	ENST00000269081.4	-	5	1002_1003	c.93_94insA	c.(91-96)aaatacfs	p.Y32fs	ABCA10_ENST00000423818.2_Frame_Shift_Ins_p.Y32fs|ABCA10_ENST00000432313.2_Frame_Shift_Ins_p.Y32fs|ABCA10_ENST00000416101.2_Frame_Shift_Ins_p.Y32fs	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	32					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATTTCATGGTATTTTTTTGGAA	0.337																																																	0																																										SO:0001589	frameshift_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.94dupA	17.37:g.67218786_67218786dupT	ENSP00000269081:p.Tyr32fs		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y31fs	ENST00000269081.4	37	c.94_93	CCDS11684.1	17																																																																																			ABCA10	-	NULL	ENSG00000154263		0.337	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4		0	77	0	-	NM_080282		67218780	-1	tier1		no_errors	ENST00000269081	ensembl	human	known	74_37	frame_shift_ins	32.74	76	37	INS	0.000:0.000	T	T	67218780	-	T	67218779	7	5	39	1	0	1	1	0	0	0	0	0	29	449	16	0	4681	0	ABCA10	17	67218779	Frame_Shift_Ins	INS	-	TCGA-JY-A6FG-01A-11D-A33E-09	9930486	67218779	13976431	276	9590											
C17orf80	55028	genome.wustl.edu	37	chr17	71231802	71231802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaaggaccaatcaaaGatttaattaaagctaaaggg	20	8	9	4	0	1	3	1	1	0	2	1	4	1	4	1	2	1	1	1	2	8	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:71231802G>T	ENST00000535032.2	+	2	294	c.181G>T	c.(181-183)Gat>Tat	p.D61Y	C17orf80_ENST00000426147.2_Missense_Mutation_p.D61Y|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.D61Y|C17orf80_ENST00000359042.2_Missense_Mutation_p.D61Y|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.D61Y|C17orf80_ENST00000577615.1_Missense_Mutation_p.D61Y			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	61						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACCAATCAAAGATTTAATTAA	0.393																																																	0													56	55	55					17																	71231802		2203	4300	6503	SO:0001583	missense	0			AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"sperm-expressed protein 1", "migration-inducing protein 3"					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.181G>T	17.37:g.71231802G>T	ENSP00000440551:p.Asp61Tyr		A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	NULL	p.D61Y	ENST00000535032.2	37	c.181	CCDS11694.1	17	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652890	0.67472	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.17	1.98	0.26296	.	0.581545	0.16418	N	0.215302	D	0.90916	0.7145	L	0.59436	1.845	0.09310	N	1	D;D;D;D	0.76494	0.996;0.996;0.999;0.999	D;D;D;D	0.71656	0.939;0.939;0.964;0.974	T	0.81185	-0.1048	10	0.87932	D	0	-5.2844	5.5368	0.17016	0.183:0.1626:0.6544:0.0	.	61;61;61;61	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	Y	61	ENSP00000255557:D61Y;ENSP00000351937:D61Y;ENSP00000268942:D61Y;ENSP00000396970:D61Y;ENSP00000440551:D61Y	ENSP00000255557:D61Y	D	+	1	0	C17orf80	68743397	0.065000	0.20965	0.002000	0.10522	0.733000	0.41908	1.809000	0.38922	0.548000	0.28955	0.561000	0.74099	GAT	C17orf80	-	NULL	ENSG00000141219		0.393	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf80	HGNC	protein_coding	OTTHUMT00000441893.1	-	0	38	0	G	NM_017941		71231802	1	tier1	-	no_errors	ENST00000359042	ensembl	human	known	74_37	missense	42.86	36	27	SNP	0.002	T	T	71231802	G	T	71231802	3	4	39	1	0	0	0	0	1	0	0	0	1891	942	33	3	183	3	C17orf80	17	71231802	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4013023	71231802	9963408	277	9591											
NUP85	79902	genome.wustl.edu	37	chr17	73204645	73204645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attccaggcgtgaattccaaGaagaaccaaatgtattttga	15	11	8	7	1	0	4	0	2	0	2	2	4	2	4	3	1	1	1	3	1	6	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:73204645G>A	ENST00000245544.4	+	2	128	c.57G>A	c.(55-57)aaG>aaA	p.K19K	NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579298.1_Silent_p.K19K|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	19					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGAATTCCAAGAAGAACCAAA	0.338																																																	0													172	191	184					17																	73204645		2203	4300	6503	SO:0001819	synonymous_variant	0			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.57G>A	17.37:g.73204645G>A			B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	pfam_Nucleoporin_Nup85	p.K19	ENST00000245544.4	37	c.57	CCDS32730.1	17																																																																																			NUP85	-	NULL	ENSG00000125450		0.338	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	-	0	71	0	G	NM_024844		73204645	1	tier1	-	no_errors	ENST00000245544	ensembl	human	known	74_37	silent	29.47	67	28	SNP	0.957	A	A	73204645	G	A	73204645	2	1	39	1	0	0	0	0	0	0	0	1	10809	933	33	3		3	NUP85	17	73204645	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1972843	73204645	7990565	278	9592											
DNAH17	9489	genome.wustl.edu	37	chr17	76423012	76423012	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccatgtttaccttcaGccccaggttcagctccttga	7	12	7	15	0	2	2	2	2	0	0	3	2	3	2	5	1	3	3	5	1	1	5	rs147136333		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:76423012G>C	ENST00000262764.6	+	0	2201				DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.L4279V|DNAH17_ENST00000585328.1_Missense_Mutation_p.L4251V	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TTTACCTTCAGCCCCAGGTTC	0.582																																					Esophageal Squamous(45;182 1126 10685 43198)												0													49	38	42					17																	76423012		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8			17.37:g.76423012G>C			B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.L4279V	ENST00000262764.6	37	c.12835	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552371	0.65311	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.10005	2.92	4.99	3.8	0.43715	.	0.000000	0.42548	D	0.000698	T	0.30634	0.0771	M	0.81942	2.565	0.43439	D	0.995618	D	0.76494	0.999	D	0.74674	0.984	T	0.02942	-1.1091	10	0.87932	D	0	.	9.3489	0.38126	0.2305:0.0:0.7695:0.0	.	4251	E7EUM8	.	V	4251;4279	ENSP00000374490:L4279V	ENSP00000300671:L4251V	L	-	1	2	DNAH17	73934607	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.998000	0.57024	2.319000	0.78375	0.655000	0.94253	CTG	DNAH17	-	pfam_Dynein_heavy_dom	ENSG00000187775		0.582	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000437301.1	-	0	51	0	G	NM_024419		76423012	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	30.77	18	8	SNP	0.977	C	C	76423012	G	C	76423012	1	2	39	0	1	0	0	0	0	0	0	0	4615	962	34	5		5	DNAH17	17	76423012	IGR	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	3218367	76423012	4772198	279	9593											
ASPSCR1	79058	genome.wustl.edu	37	chr17	79954650	79954650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccaaagaagtccaagtcGggccaggatccccagcagga	14	3	12	12	1	0	1	0	0	0	1	3	3	2	3	5	3	2	1	5	3	4	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr17:79954650G>A	ENST00000306739.4	+	7	958	c.861G>A	c.(859-861)tcG>tcA	p.S287S	ASPSCR1_ENST00000306729.7_Silent_p.S287S|ASPSCR1_ENST00000580534.1_Silent_p.S210S	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	287					glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGTCCAAGTCGGGCCAGGATC	0.647			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	0													37	45	42					17																	79954650		2200	4298	6498	SO:0001819	synonymous_variant	0			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.861G>A	17.37:g.79954650G>A			A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Silent	SNP	pfam_TUG/UBX4,pfam_UBX,pfscan_UBX	p.S287	ENST00000306739.4	37	c.861	CCDS11796.1	17																																																																																			ASPSCR1	-	NULL	ENSG00000169696		0.647	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	-	0	212	0	G	NM_024083		79954650	1	tier1	-	no_errors	ENST00000306729	ensembl	human	known	74_37	silent	35.92	66	37	SNP	0.314	A	A	79954650	G	A	79954650	2	1	39	1	0	0	0	0	0	0	0	1	1060	1103	39	1		1	ASPSCR1	17	79954650	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	3531638	79954650	1240560	280	9594											
FAM38B	63895	genome.wustl.edu	37	chr18	10736690	10736690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccgtttcaaacaaataaTaatctccactcctgaccact	14	12	2	13	1	2	1	1	1	1	0	5	1	4	1	4	0	1	1	4	0	5	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr18:10736690T>C	ENST00000503781.3	-	32	4651	c.4652A>G	c.(4651-4653)tAt>tGt	p.Y1551C	PIEZO2_ENST00000383408.2_3'UTR|PIEZO2_ENST00000580640.1_Missense_Mutation_p.Y1576C|PIEZO2_ENST00000302079.6_Missense_Mutation_p.Y1551C	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1551					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AAACAAATAATAATCTCCACT	0.378																																																	0													167	128	140					18																	10736690		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.4652A>G	18.37:g.10736690T>C	ENSP00000421377:p.Tyr1551Cys		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_Piezo	p.Y1576C	ENST00000503781.3	37	c.4727		18	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276546	0.40294	.	.	ENSG00000154864	ENST00000302079	D	0.86030	-2.06	5.87	5.87	0.94306	.	.	.	.	.	D	0.92368	0.7578	M	0.86864	2.845	0.80722	D	1	.	.	.	.	.	.	D	0.93433	0.6787	7	0.72032	D	0.01	.	15.1046	0.72310	0.0:0.0:0.0:1.0	.	.	.	.	C	1551	ENSP00000303316:Y1551C	ENSP00000303316:Y1551C	Y	-	2	0	FAM38B	10726690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.928000	0.75846	2.248000	0.74166	0.533000	0.62120	TAT	PIEZO2	-	NULL	ENSG00000154864		0.378	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	32	0	T	NM_022068		10736690	-1	tier1	-	no_errors	ENST00000580640	ensembl	human	novel	74_37	missense	30.77	27	12	SNP	1.000	C	C	10736690	T	C	10736690	3	2	39	1	0	0	0	0	1	0	0	0	5577	1406	49	4	3690	4	FAM38B	18	10736690	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09		10736690	67340558	281	9595											
CEP192	55125	genome.wustl.edu	37	chr18	13049675	13049675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcatagtctcacctaaaaAtagtggtaagtgtctgagtc	12	12	9	8	1	2	1	1	1	2	0	5	1	2	1	1	1	0	2	1	1	6	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr18:13049675A>G	ENST00000325971.8	+	14	2690	c.1097A>G	c.(1096-1098)aAt>aGt	p.N366S	CEP192_ENST00000506447.1_Missense_Mutation_p.N962S|CEP192_ENST00000430049.2_Missense_Mutation_p.N487S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	366					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCACCTAAAAATAGTGGTAAG	0.343																																																	0													91	94	93					18																	13049675		2195	4296	6491	SO:0001583	missense	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1097A>G	18.37:g.13049675A>G	ENSP00000317156:p.Asn366Ser		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.N962S	ENST00000325971.8	37	c.2885		18	.	.	.	.	.	.	.	.	.	.	A	0.300	-0.974254	0.02215	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.77489	-1.1;-1.1;-1.1	5.52	-7.32	0.01436	.	1.941400	0.02021	N	0.047762	T	0.50854	0.1640	N	0.12182	0.205	0.09310	N	1	B;B;B	0.13594	0.003;0.008;0.003	B;B;B	0.11329	0.002;0.003;0.006	T	0.55976	-0.8055	10	0.02654	T	1	0.0395	4.4934	0.11824	0.1609:0.4448:0.2929:0.1014	.	487;962;366	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	S	962;366;366;487	ENSP00000427550:N962S;ENSP00000317156:N366S;ENSP00000389190:N487S	ENSP00000317156:N366S	N	+	2	0	CEP192	13039675	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.473000	0.06615	-1.474000	0.01879	-0.321000	0.08615	AAT	CEP192	-	NULL	ENSG00000101639		0.343	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		-	0	43	0	A	NM_032142		13049675	1	tier1	-	no_errors	ENST00000506447	ensembl	human	known	74_37	missense	40.00	57	38	SNP	0.003	G	G	13049675	A	G	13049675	3	3	39	1	0	0	0	0	1	0	0	0	3258	101	4	4	2943	4	CEP192	18	13049675	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	2312985	13049675	65027573	282	9596											
C18orf34	374864	genome.wustl.edu	37	chr18	30926332	30926332	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagacgaatggcctctgaGagcaatgtttccatttcctg	10	12	10	9	1	1	2	0	2	1	2	3	5	3	2	3	1	1	2	3	1	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr18:30926332G>T	ENST00000383096.3	-	9	683	c.501C>A	c.(499-501)ctC>ctA	p.L167L	CCDC178_ENST00000579947.1_Silent_p.L167L|CCDC178_ENST00000406524.2_Silent_p.L167L|CCDC178_ENST00000300227.8_Silent_p.L167L|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Silent_p.L167L|CCDC178_ENST00000403303.1_Silent_p.L167L|CCDC178_ENST00000402325.1_Silent_p.L167L			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	167																	TGGCCTCTGAGAGCAATGTTT	0.348																																																	0													89	84	86					18																	30926332		2203	4300	6503	SO:0001819	synonymous_variant	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.501C>A	18.37:g.30926332G>T			A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	NULL	p.L167	ENST00000383096.3	37	c.501	CCDS42424.1	18																																																																																			CCDC178	-	NULL	ENSG00000166960		0.348	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2		0	16	0	G	NM_198995		30926332	-1			no_errors	ENST00000406524	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.093	T	T	30926332	G	T	30926332	2	4	39	1	0	0	0	0	0	0	0	1	1909	929	33	3		3	C18orf34	18	30926332	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	17876657	30926332	47150916	283	9597											
MOCOS	55034	genome.wustl.edu	37	chr18	33795865	33795865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagagaaagctgcaggagtCctggagggggcccttgggcc	8	6	17	10	0	1	1	1	0	0	1	2	4	2	3	3	5	2	2	3	5	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr18:33795865C>T	ENST00000261326.5	+	8	1743	c.1722C>T	c.(1720-1722)gtC>gtT	p.V574V		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGCAGGAGTCCTGGAGGGGG	0.517																																																	0													37	41	39					18																	33795865		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1722C>T	18.37:g.33795865C>T				Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom	p.V574	ENST00000261326.5	37	c.1722	CCDS11919.1	18																																																																																			MOCOS	-	NULL	ENSG00000075643		0.517	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	-	0	27	0	C			33795865	1	tier1	-	no_errors	ENST00000261326	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.000	T	T	33795865	C	T	33795865	2	4	39	1	0	0	0	0	0	0	0	1	9727	842	30	3		3	MOCOS	18	33795865	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2869533	33795865	44281383	284	9598											
CXXC1	30827	genome.wustl.edu	37	chr18	47809897	47809897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttacccttcaatgcgtGtggggtacatggacccaaag	10	10	10	11	1	2	0	2	0	0	0	2	1	2	1	2	3	3	1	2	3	4	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr18:47809897G>T	ENST00000285106.6	-	12	2276	c.1562C>A	c.(1561-1563)aCa>aAa	p.T521K	MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000585595.1_5'Flank|CXXC1_ENST00000589940.1_Missense_Mutation_p.T521K|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Missense_Mutation_p.T525K|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000585672.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	521					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTCAATGCGTGTGGGGTACAT	0.597																																																	0													87	61	70					18																	47809897		2203	4300	6503	SO:0001583	missense	0			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"Zinc fingers, PHD-type"	24343	protein-coding gene	gene with protein product	"CpG binding protein", "DNA-binding protein with PHD finger and CXXC domain", "zinc finger, CpG binding-type containing 1"	609150	"CXXC finger 1 (PHD domain)"			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1562C>A	18.37:g.47809897G>T	ENSP00000285106:p.Thr521Lys		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.T525K	ENST00000285106.6	37	c.1574	CCDS11945.1	18	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375953	0.82682	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.25085	1.82;1.82	4.65	4.65	0.58169	CpG binding protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50497	0.1619	M	0.72118	2.19	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.962;0.978;0.998	T	0.55101	-0.8193	10	0.87932	D	0	-15.0297	15.3793	0.74641	0.0:0.0:1.0:0.0	.	525;521;388	Q9P0U4-2;Q9P0U4;Q59EC8	.;CXXC1_HUMAN;.	K	521;525	ENSP00000285106:T521K;ENSP00000390475:T525K	ENSP00000285106:T521K	T	-	2	0	CXXC1	46063895	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.906000	0.92626	2.290000	0.77057	0.467000	0.42956	ACA	CXXC1	-	pfam_CpG-bd_C	ENSG00000154832		0.597	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2	-	0	83	0	G	NM_014593		47809897	-1	tier1	-	no_errors	ENST00000412036	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	47809897	G	T	47809897	3	4	39	1	0	0	0	0	1	0	0	0	4106	1377	48	3	424	3	CXXC1	18	47809897	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	14014032	47809897	30267351	285	9599											
C18orf62	284274	genome.wustl.edu	37	chr18	73139414	73139414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaagtgctttcttctgcagCaaattccccttgaatatccg	9	14	7	11	1	2	1	0	1	2	0	4	1	4	1	3	0	3	4	3	0	4	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr18:73139414C>A	ENST00000579022.1	-	1	244	c.105G>T	c.(103-105)ttG>ttT	p.L35F	SMIM21_ENST00000382638.3_Missense_Mutation_p.L35F|SMIM21_ENST00000584508.1_Missense_Mutation_p.L35F	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	35						integral component of membrane (GO:0016021)											TCTTCTGCAGCAAATTCCCCT	0.463																																																	0													234	206	216					18																	73139414		2203	4300	6503	SO:0001583	missense	0				CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 62"	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.105G>T	18.37:g.73139414C>A	ENSP00000462106:p.Leu35Phe			Missense_Mutation	SNP	NULL	p.L35F	ENST00000579022.1	37	c.105	CCDS32845.1	18	.	.	.	.	.	.	.	.	.	.	C	1.473	-0.559331	0.03967	.	.	ENSG00000206026	ENST00000382638	.	.	.	1.77	-2.45	0.06481	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12837	-1.0532	8	0.87932	D	0	.	2.2103	0.03946	0.2565:0.3706:0.0:0.3729	.	35	Q3B7S5	CR062_HUMAN	F	35	.	ENSP00000372083:L35F	L	-	3	2	C18orf62	71268402	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.846000	0.04336	-2.113000	0.00833	0.260000	0.18958	TTG	SMIM21	-	NULL	ENSG00000206026		0.463	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMIM21	HGNC	protein_coding	OTTHUMT00000444917.1	-	0	66	0	C	NM_001037331		73139414	-1	tier1	-	no_errors	ENST00000579022	ensembl	human	known	74_37	missense	27.54	50	19	SNP	0.000	A	A	73139414	C	A	73139414	3	1	39	1	0	0	0	0	1	0	0	0	1913	709	25	3	212	3	C18orf62	18	73139414	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	25329517	73139414	4937834	286	9600											
ATP5D	513	genome.wustl.edu	37	chr19	1244157	1244157	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgttggccgaagaggcCgtgacgctggacatgttgga	8	9	16	8	3	0	2	0	1	0	1	0	5	0	4	2	4	0	4	2	4	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:1244157C>A	ENST00000215375.2	+	3	458	c.357C>A	c.(355-357)gcC>gcA	p.A119A	ATP5D_ENST00000395633.1_Silent_p.A119A|ATP5D_ENST00000591660.1_Silent_p.A119A	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	119					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCGAAGAGGCCGTGACGCTGG	0.657											OREG0025113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													39	35	36					19																	1244157		2203	4298	6501	SO:0001819	synonymous_variant	0			X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.357C>A	19.37:g.1244157C>A		594	D6W5Y3|Q6FG90	Silent	SNP	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu	p.A119	ENST00000215375.2	37	c.357	CCDS12058.1	19																																																																																			ATP5D	-	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu	ENSG00000099624		0.657	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5D	HGNC	protein_coding	OTTHUMT00000449958.1	-	0	180	0	C	NM_001687		1244157	1	tier1	-	no_errors	ENST00000215375	ensembl	human	known	74_37	silent	26.67	65	24	SNP	0.002	A	A	1244157	C	A	1244157	2	1	39	1	0	0	0	0	0	0	0	1	1151	639	23	2		2	ATP5D	19	1244157	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		1244157	57884826	287	9601											
S1PR4	8698	genome.wustl.edu	37	chr19	3179168	3179168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacgggagggcctgctcttCaccgccctggccgcctccac	4	7	11	19	3	2	0	1	0	1	0	3	1	3	1	6	3	2	1	6	3	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:3179168C>T	ENST00000246115.3	+	1	433	c.378C>T	c.(376-378)ttC>ttT	p.F126F	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	126					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCCTGCTCTTCACCGCCCTGG	0.711																																					GBM(82;318 1638 33279 49708)												0													32	34	33					19																	3179168		2180	4258	6438	SO:0001819	synonymous_variant	0			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.378C>T	19.37:g.3179168C>T			D6W612	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.F126	ENST00000246115.3	37	c.378	CCDS12105.1	19																																																																																			S1PR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_S1P_rcpt,prints_GPCR_Rhodpsn	ENSG00000125910		0.711	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR4	HGNC	protein_coding	OTTHUMT00000452517.1	-	0	26	0	C	NM_003775		3179168	1	tier1	-	no_errors	ENST00000246115	ensembl	human	known	74_37	silent	63.64	4	7	SNP	1.000	T	T	3179168	C	T	3179168	2	4	39	1	0	0	0	0	0	0	0	1	13841	825	29	3		3	S1PR4	19	3179168	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1935011	3179168	55949815	288	9602											
FZR1	51343	genome.wustl.edu	37	chr19	3530789	3530789	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgacctctgcctccaGgtgacgcggctctgtgacct	6	9	10	16	2	2	3	0	3	2	0	3	3	3	3	4	2	1	1	4	2	0	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:3530789G>T	ENST00000395095.3	+	7	654		c.e7-1		FZR1_ENST00000441788.2_Splice_Site|FZR1_ENST00000313639.8_Splice_Site	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)						activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCCTCCAGGTGACGCGGC	0.612																																																	0													88	63	71					19																	3530789		2200	4300	6500	SO:0001630	splice_region_variant	0			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.655-1G>T	19.37:g.3530789G>T			O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Splice_Site	SNP	-	e7-1	ENST00000395095.3	37	c.655-1	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968504	0.74131	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7674	0.85528	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FZR1	3481789	1.000000	0.71417	0.997000	0.53966	0.746000	0.42486	9.460000	0.97641	2.309000	0.77851	0.655000	0.94253	.	FZR1	-	-	ENSG00000105325		0.612	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	-	0	50	0	G	NM_016263	Intron	3530789	1	tier1	-	no_errors	ENST00000395095	ensembl	human	known	74_37	splice_site	9.76	37	4	SNP	1.000	T	T	3530789	G	T	3530789	5	4	39	1	0	0	0	0	0	0	1	0	6162	1014	35	3	680	3	FZR1	19	3530789	Splice_Site	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	351621	3530789	55598194	289	9603											
TJP3	27134	genome.wustl.edu	37	chr19	3734314	3734314	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgatgagatgtcctcTccccctgcagacatctcgga	8	10	10	13	1	2	3	0	2	2	2	5	5	3	4	3	2	1	2	3	2	0	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:3734314T>C	ENST00000541714.2	+	8	1339				TJP3_ENST00000587686.1_Intron|TJP3_ENST00000262968.9_Silent_p.S322S|TJP3_ENST00000382008.3_Silent_p.S303S|TJP3_ENST00000589378.1_Intron|TJP3_ENST00000539908.2_Intron	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3						regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTCCTCTCCCCCTGCAG	0.597																																																	0													90	78	82					19																	3734314		2203	4300	6503	SO:0001627	intron_variant	0			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"zona occludens 3"	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.878-11T>C	19.37:g.3734314T>C			A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Silent	SNP	pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens	p.S322	ENST00000541714.2	37	c.966	CCDS32873.2	19																																																																																			TJP3	-	NULL	ENSG00000105289		0.597	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	HGNC	protein_coding	OTTHUMT00000453434.1	-	0	122	0	T			3734314	1	tier1	-	no_errors	ENST00000262968	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.000	C	C	3734314	T	C	3734314	1	2	39	0	1	0	0	0	0	0	0	0	15978	1538	54	4		4	TJP3	19	3734314	Intron	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	203525	3734314	55394669	290	9604											
ATCAY	85300	genome.wustl.edu	37	chr19	3907828	3907828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcgccgccaacgggcGcctgtggcggacagtgatca	7	4	16	14	6	1	1	1	1	0	0	1	2	1	2	3	4	2	1	3	4	1	0	rs372708763		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:3907828G>A	ENST00000450849.2	+	5	922	c.455G>A	c.(454-456)cGc>cAc	p.R152H	ATCAY_ENST00000398448.3_Missense_Mutation_p.R158H|ATCAY_ENST00000600960.1_Missense_Mutation_p.R152H|ATCAY_ENST00000301260.6_Missense_Mutation_p.R152H	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	152					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCAACGGGCGCCTGTGGCGG	0.647																																																	0								G	HIS/ARG	0,4054		0,0,2027	43	55	51		455	5.1	1	19		51	1,8371		0,1,4185	no	missense	ATCAY	NM_033064.4	29	0,1,6212	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	152/372	3907828	1,12425	2027	4186	6213	SO:0001583	missense	0				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.455G>A	19.37:g.3907828G>A	ENSP00000390941:p.Arg152His		Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.R152H	ENST00000450849.2	37	c.455	CCDS45923.1	19	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855600	0.91355	0.0	1.19E-4	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	T;T;T	0.44482	0.97;0.97;0.92	5.08	5.08	0.68730	.	0.107758	0.64402	N	0.000005	T	0.56455	0.1986	L	0.45137	1.4	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.50180	-0.8858	10	0.28530	T	0.3	.	17.5117	0.87762	0.0:0.0:1.0:0.0	.	158;152	B4DS11;Q86WG3	.;ATCAY_HUMAN	H	152;152;152;158;130	ENSP00000390941:R152H;ENSP00000301260:R152H;ENSP00000381466:R158H	ENSP00000301260:R152H	R	+	2	0	ATCAY	3858828	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.159000	0.94728	2.376000	0.81061	0.638000	0.83543	CGC	ATCAY	-	pfam_Bcl2-/adenovirus-E1B	ENSG00000167654		0.647	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	-	0	206	0	G			3907828	1	tier1	-	no_errors	ENST00000301260	ensembl	human	known	74_37	missense	38.38	61	38	SNP	1.000	A	A	3907828	G	A	3907828	3	1	39	1	0	0	0	0	1	0	0	0	1078	1087	38	1	469	1	ATCAY	19	3907828	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	173514	3907828	55221155	291	9605											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7505040	7505040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagcgcgctccccggcCgccccgagctgtctttttac	4	8	11	18	5	1	0	0	0	1	0	2	1	2	0	5	2	3	3	5	2	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:7505040C>T	ENST00000359920.6	+	1	467	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	72					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R72C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTCCCCGGCCGCCCCGAGCT	0.662																																																	1	Substitution - Missense(1)	endometrium(1)											18	23	21					19																	7505040		692	1591	2283	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.214C>T	19.37:g.7505040C>T	ENSP00000352995:p.Arg72Cys		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R72C	ENST00000359920.6	37	c.214	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983984	0.18889	.	.	ENSG00000104880	ENST00000359920	T	0.31769	1.48	5.49	4.44	0.53790	.	0.551628	0.15055	N	0.283090	T	0.22589	0.0545	N	0.12182	0.205	0.35488	D	0.798702	D	0.65815	0.995	B	0.44315	0.446	T	0.34725	-0.9817	10	0.87932	D	0	-1.0871	13.9825	0.64313	0.0:0.8471:0.1529:0.0	.	72	Q6ZSZ5	ARHGI_HUMAN	C	72	ENSP00000352995:R72C	ENSP00000352995:R72C	R	+	1	0	ARHGEF18	7411040	0.914000	0.31030	0.068000	0.19968	0.180000	0.23129	1.808000	0.38912	1.289000	0.44618	0.561000	0.74099	CGC	ARHGEF18	-	NULL	ENSG00000104880		0.662	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0	104	0	C	NM_015318		7505040	1	tier1	-	no_errors	ENST00000359920	ensembl	human	known	74_37	missense	41.43	41	29	SNP	0.074	T	T	7505040	C	T	7505040	3	4	39	1	0	0	0	0	1	0	0	0	901	652	23	1	216	1	ARHGEF18	19	7505040	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	3597212	7505040	51623943	292	9606											
MUC16	94025	genome.wustl.edu	37	chr19	9085519	9085519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctttgcttagcagcaGatgtggatgcagctgaaaag	11	12	12	6	0	1	2	0	1	1	1	1	4	1	3	0	1	5	5	0	1	3	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:9085519G>T	ENST00000397910.4	-	1	6499	c.6296C>A	c.(6295-6297)tCt>tAt	p.S2099Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2099	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTAGCAGCAGATGTGGATGC	0.473																																																	0													170	164	166					19																	9085519		1912	4122	6034	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6296C>A	19.37:g.9085519G>T	ENSP00000381008:p.Ser2099Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S2099Y	ENST00000397910.4	37	c.6296	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.837	-0.743368	0.03088	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	0.235	0.235	0.15431	.	.	.	.	.	T	0.04048	0.0113	N	0.08118	0	.	.	.	D	0.58970	0.984	D	0.63877	0.919	T	0.45293	-0.9271	7	0.87932	D	0	.	.	.	.	.	2099	B5ME49	.	Y	2099	ENSP00000381008:S2099Y	ENSP00000381008:S2099Y	S	-	2	0	MUC16	8946519	0.007000	0.16637	0.087000	0.20705	0.089000	0.18198	0.780000	0.26760	0.308000	0.22923	0.313000	0.20887	TCT	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	60	0	G	NM_024690		9085519	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	30.77	54	24	SNP	0.113	T	T	9085519	G	T	9085519	3	4	39	1	0	0	0	0	1	0	0	0	10011	942	33	3	37563	3	MUC16	19	9085519	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1580479	9085519	50043464	293	9607											
EIF3G	5032	genome.wustl.edu	37	chr19	10225804	10225804	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggcttagttggtggacgGcctggggtaggggagggtgg	4	9	23	5	1	0	0	0	0	0	0	0	2	0	2	1	10	0	4	1	10	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:10225804G>T	ENST00000321826.4	+	0	1699				EIF3G_ENST00000253108.4_Splice_Site_p.P317T	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TTGGTGGACGGCCTGGGGTAG	0.642																																																	0													46	50	49					19																	10225804		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.*390G>T	19.37:g.10225804G>T			B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3_g,pfscan_RRM_dom	p.P317T	ENST00000321826.4	37	c.949	CCDS12226.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970893	0.74246	.	.	ENSG00000130811	ENST00000253108	T	0.36878	1.23	2.86	2.86	0.33363	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.64402	D	0.000001	T	0.56514	0.1990	M	0.78344	2.41	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.61038	-0.7143	10	0.87932	D	0	-8.4522	9.4074	0.38471	0.0:0.0:1.0:0.0	.	317	O75821	EIF3G_HUMAN	T	317	ENSP00000253108:P317T	ENSP00000253108:P317T	P	-	1	0	EIF3G	10086804	0.958000	0.32768	0.998000	0.56505	0.587000	0.36485	1.232000	0.32636	1.914000	0.55421	0.561000	0.74099	CCG	EIF3G	-	pirsf_eIF3_g,pfscan_RRM_dom	ENSG00000130811		0.642	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3G	HGNC	protein_coding	OTTHUMT00000316664.2	-	0	183	0	G	NM_002566		10225804	-1	tier1	-	no_errors	ENST00000253108	ensembl	human	known	74_37	missense	46.32	51	44	SNP	0.998	T	T	10225804	G	T	10225804	1	4	39	0	1	0	0	0	0	0	0	0	5033	1217	42	3		3	EIF3G	19	10225804	3'UTR	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1140285	10225804	48903179	294	9608											
SMARCA4	6597	genome.wustl.edu	37	chr19	11143993	11143993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcaggaccgagcccacCgcatcgggcagcagaacgag	12	1	14	14	5	0	1	0	0	0	1	1	4	0	2	3	2	4	4	3	2	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:11143993C>T	ENST00000429416.3	+	27	3855	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1192C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1192C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	2	Substitution - Missense(1)|Unknown(1)	lung(1)|central_nervous_system(1)											61	61	61					19																	11143993		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3574C>T	19.37:g.11143993C>T	ENSP00000395654:p.Arg1192Cys		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.R1192C	ENST00000429416.3	37	c.3574	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507268	0.85282	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97888	-4.59;-4.59;-4.59;-4.59;-4.59;-4.59;-4.59	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99498	0.9821	H	0.99982	5.21	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97352	0.9964	10	0.87932	D	0	-34.1151	16.7067	0.85374	0.0:1.0:0.0:0.0	.	1192;1192;1192;1192;1192;412;1192	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	C	1192;1192;1256;1192;1192;1192;1192;1192	ENSP00000395654:R1192C;ENSP00000350720:R1192C;ENSP00000343896:R1192C;ENSP00000445036:R1192C;ENSP00000392837:R1192C;ENSP00000397783:R1192C;ENSP00000414727:R1192C	ENSP00000343896:R1192C	R	+	1	0	SMARCA4	11004993	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.675000	0.68123	2.488000	0.83962	0.558000	0.71614	CGC	SMARCA4	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000127616		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	53	0	C	NM_003072		11143993	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	48.78	20	20	SNP	1.000	T	T	11143993	C	T	11143993	3	4	39	1	0	0	0	0	1	0	0	0	14815	652	23	1	3672	1	SMARCA4	19	11143993	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	918189	11143993	47984990	295	9609											
CPAMD8	27151	genome.wustl.edu	37	chr19	17039991	17039991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatcaaagcgggtgaggcGcagtggccgctgcacatact	10	6	13	12	3	1	1	1	1	0	0	1	1	1	1	1	3	3	3	1	3	2	1	rs200258917	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:17039991G>A	ENST00000443236.1	-	24	3077	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	969						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGGGTGAGGCGCAGTGGCCGC	0.582													G|||	2	0.000399361	0	0	5008	,	,		21102	0		0	False		,,,				2504	0.002																0								G	CYS/ARG	0,4222		0,0,2111	47	54	51		3046	1.1	0	19		51	1,8459		0,1,4229	yes	missense	CPAMD8	NM_015692.2	180	0,1,6340	AA,AG,GG		0.0118,0.0,0.0079	benign	1016/1933	17039991	1,12681	2111	4230	6341	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3046C>T	19.37:g.17039991G>A	ENSP00000402505:p.Arg1016Cys		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.R1016C	ENST00000443236.1	37	c.3046	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	6.462	0.453433	0.12283	0.0	1.18E-4	ENSG00000160111	ENST00000291440	.	.	.	3.4	1.1	0.20463	.	0.577212	0.15329	N	0.268138	T	0.28001	0.0690	L	0.31294	0.92	0.18873	N	0.999982	B	0.14438	0.01	B	0.06405	0.002	T	0.18053	-1.0349	9	0.52906	T	0.07	.	7.6081	0.28113	0.0957:0.1666:0.7377:0.0	.	969	Q8IZJ3	CPMD8_HUMAN	C	1016	.	ENSP00000291440:R1016C	R	-	1	0	CPAMD8	16900991	0.311000	0.24536	0.001000	0.08648	0.398000	0.30690	2.314000	0.43743	0.002000	0.14630	0.655000	0.94253	CGC	CPAMD8	-	NULL	ENSG00000160111		0.582	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0	82	0	G	NM_015692		17039991	-1	tier1	rs200258917	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.034	A	A	17039991	G	A	17039991	3	1	39	1	0	0	0	0	1	0	0	0	3802	1087	38	1	2828	1	CPAMD8	19	17039991	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	5895998	17039991	42088992	296	9610											
USHBP1	83878	genome.wustl.edu	37	chr19	17367447	17367447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttcattagagaacggcGctcctggagacgctggacat	11	9	11	10	3	2	2	1	0	1	2	3	5	3	3	1	3	1	2	1	3	3	2	rs201299465		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:17367447G>T	ENST00000252597.3	-	9	1476	c.1303C>A	c.(1303-1305)Cgc>Agc	p.R435S	USHBP1_ENST00000431146.2_Missense_Mutation_p.R371S|AC010646.3_ENST00000594059.1_5'Flank	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1									p.R435C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGAGAACGGCGCTCCTGGAGA	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											68	68	68					19																	17367447		2203	4300	6503	SO:0001583	missense	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1303C>A	19.37:g.17367447G>T	ENSP00000252597:p.Arg435Ser			Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.R435S	ENST00000252597.3	37	c.1303	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936310	0.34189	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.18810	2.2;2.19	4.9	3.86	0.44501	.	0.439796	0.22930	N	0.053915	T	0.22475	0.0542	M	0.64997	1.995	0.53005	D	0.99996	P;P	0.43024	0.798;0.798	B;B	0.42738	0.324;0.396	T	0.03130	-1.1069	10	0.19147	T	0.46	-8.4245	9.2958	0.37815	0.1005:0.0:0.8995:0.0	.	371;435	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	S	435;371	ENSP00000252597:R435S;ENSP00000407902:R371S	ENSP00000252597:R435S	R	-	1	0	USHBP1	17228447	0.006000	0.16342	0.919000	0.36401	0.428000	0.31595	1.392000	0.34486	1.069000	0.40788	0.655000	0.94253	CGC	USHBP1	-	NULL	ENSG00000130307		0.577	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1		0	24	0	G	NM_031941		17367447	-1			no_errors	ENST00000252597	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.701	T	T	17367447	G	T	17367447	3	4	39	1	0	0	0	0	1	0	0	0	17086	1087	38	2	828	2	USHBP1	19	17367447	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	327456	17367447	41761536	297	9611											
TMEM161A	54929	genome.wustl.edu	37	chr19	19243553	19243553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctcctcactaaggcCattggcccacctgggaggat	7	10	11	13	0	2	0	1	0	1	0	3	2	2	2	4	5	0	1	4	5	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:19243553C>T	ENST00000162044.9	-	4	263	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	TMEM161A_ENST00000587583.2_Missense_Mutation_p.G67S|TMEM161A_ENST00000450333.2_Missense_Mutation_p.G67S|TMEM161A_ENST00000592147.1_5'UTR	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	67					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			TCACTAAGGCCATTGGCCCAC	0.627																																																	0													72	48	56					19																	19243553		2203	4300	6503	SO:0001583	missense	0			BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.199G>A	19.37:g.19243553C>T	ENSP00000162044:p.Gly67Ser		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	pfam_Transmembrane_161A/B	p.G67S	ENST00000162044.9	37	c.199	CCDS12393.1	19	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414270	0.62511	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	3.86	2.78	0.32641	.	0.285572	0.38381	N	0.001716	T	0.51958	0.1705	M	0.69823	2.125	0.80722	D	1	P;P;P	0.40431	0.522;0.577;0.717	B;B;B	0.37144	0.109;0.175;0.242	T	0.50276	-0.8847	9	0.36615	T	0.2	.	9.8151	0.40846	0.0:0.8908:0.0:0.1092	.	67;67;67	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	S	67	.	ENSP00000162044:G67S	G	-	1	0	TMEM161A	19104553	0.983000	0.35010	0.833000	0.33012	0.647000	0.38526	3.067000	0.50010	0.701000	0.31803	0.462000	0.41574	GGC	TMEM161A	-	pfam_Transmembrane_161A/B	ENSG00000064545		0.627	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161A	HGNC	protein_coding	OTTHUMT00000460089.2	-	0	55	0	C	NM_017814		19243553	-1	tier1	-	no_errors	ENST00000162044	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	T	T	19243553	C	T	19243553	3	4	39	1	0	0	0	0	1	0	0	0	16123	594	21	3	1276	3	TMEM161A	19	19243553	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1876106	19243553	39885430	298	9612											
ZNF714	148206	genome.wustl.edu	37	chr19	21300459	21300460	+	Frame_Shift_Del	DEL	AT	AT	-																															gtcttcaacccttacaaaacAtaaaagaattcatactggag																								rs373730153		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:21300459_21300460delAT	ENST00000596143.1	+	5	1314_1315	c.989_990delAT	c.(988-990)catfs	p.H330fs	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CTTACAAAACATAAAAGAATTC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.989_990delAT	19.37:g.21300459_21300460delAT	ENSP00000472368:p.His330fs		Q49AI1|Q86W65|Q8ND40	Frame_Shift_Del	DEL	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H330fs	ENST00000596143.1	37	c.989_990	CCDS54239.1	19																																																																																			ZNF714	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160352		0.347	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1		0	25	0	AT	NM_182515		21300460	1			no_errors	ENST00000596143	ensembl	human	known	74_37	frame_shift_del	20.51	31	8	DEL	0.995:0.991	0	-	21300460	AT	-	21300459	7	5	39	1	0	1	0	1	0	0	0	0	18166	217	8	0	999	0	ZNF714	19	21300459	Frame_Shift_Del	DEL	AT	TCGA-JY-A6FG-01A-11D-A33E-09	2056906	21300459	37828524	299	9613											
TSHZ3	57616	genome.wustl.edu	37	chr19	31770039	31770039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagggtgtcgtaggcagcGctgcagtccttacagcggaa	9	7	14	11	3	0	0	0	0	0	0	2	1	1	1	2	3	4	4	2	3	3	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:31770039G>A	ENST00000240587.4	-	2	987	c.660C>T	c.(658-660)agC>agT	p.S220S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	220					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGTAGGCAGCGCTGCAGTCCT	0.597																																																	0													135	123	127					19																	31770039		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.660C>T	19.37:g.31770039G>A			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S220	ENST00000240587.4	37	c.660	CCDS12421.2	19																																																																																			TSHZ3	-	smart_Znf_C2H2-like	ENSG00000121297		0.597	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	84	0	G	NM_020856		31770039	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	31.11	31	14	SNP	0.997	A	A	31770039	G	A	31770039	2	1	39	1	0	0	0	0	0	0	0	1	16673	1078	38	1		1	TSHZ3	19	31770039	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10469580	31770039	27358944	300	9614											
ANKRD27	84079	genome.wustl.edu	37	chr19	33095327	33095327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcgttaatggaggcccCgtgctggaaagagaaaccac	14	5	13	9	2	0	2	0	0	0	2	0	5	0	4	3	3	3	2	3	3	4	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:33095327C>A	ENST00000306065.4	-	25	2655	c.2497G>T	c.(2497-2499)Ggg>Tgg	p.G833W		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	833					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.G833R(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATGGAGGCCCCGTGCTGGAAA	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)											55	40	45					19																	33095327		2203	4300	6503	SO:0001583	missense	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2497G>T	19.37:g.33095327C>A	ENSP00000304292:p.Gly833Trp		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.G833W	ENST00000306065.4	37	c.2497	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609708	0.66558	.	.	ENSG00000105186	ENST00000306065	T	0.79554	-1.28	5.48	5.48	0.80851	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000017	D	0.94268	0.8159	H	0.98446	4.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96359	0.9264	10	0.87932	D	0	-31.7045	18.9221	0.92529	0.0:1.0:0.0:0.0	.	833	Q96NW4	ANR27_HUMAN	W	833	ENSP00000304292:G833W	ENSP00000304292:G833W	G	-	1	0	ANKRD27	37787167	0.994000	0.37717	0.962000	0.40283	0.565000	0.35776	4.535000	0.60629	2.556000	0.86216	0.563000	0.77884	GGG	ANKRD27	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000105186		0.493	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1		0	54	0	C	NM_032139		33095327	-1			no_errors	ENST00000306065	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.997	A	A	33095327	C	A	33095327	3	1	39	1	0	0	0	0	1	0	0	0	655	652	23	2	675	2	ANKRD27	19	33095327	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1325288	33095327	26033656	301	9615											
NPHS1	4868	genome.wustl.edu	37	chr19	36341899	36341899	+	Frame_Shift_Del	DEL	C	C	-																															gtcaggtgctggcttcgcgtCcccagacacacagttgacca																										TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:36341899delC	ENST00000378910.5	-	4	489	c.490delG	c.(490-492)gacfs	p.D164fs	NPHS1_ENST00000353632.6_Frame_Shift_Del_p.D164fs|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	164	Ig-like C2-type 2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCTTCGCGTCCCCAGACACA	0.612																																																	0													92	68	76					19																	36341899		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.490delG	19.37:g.36341899delC	ENSP00000368190:p.Asp164fs		A6NDH2|C3RX61	Frame_Shift_Del	DEL	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D164fs	ENST00000378910.5	37	c.490	CCDS32996.1	19																																																																																			NPHS1	-	pfam_CD80_C2-set	ENSG00000161270		0.612	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1		0	37	0	C			36341899	-1	tier1		no_errors	ENST00000378910	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.572	-	-	36341899	C	-	36341899	7	5	39	1	0	1	0	1	0	0	0	0	10621	855	30	0	3339	0	NPHS1	19	36341899	Frame_Shift_Del	DEL	C	TCGA-JY-A6FG-01A-11D-A33E-09	3246572	36341899	22787084	302	9616											
SPINT2	10653	genome.wustl.edu	37	chr19	38780792	38780792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcagtcactgggccttGccgtgcatccttcccacgct	6	9	9	17	3	1	0	1	0	0	0	3	0	3	0	4	1	3	3	4	1	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:38780792G>T	ENST00000301244.7	+	5	860	c.425G>T	c.(424-426)tGc>tTc	p.C142F	CTB-102L5.4_ENST00000591889.1_Missense_Mutation_p.A20S|SPINT2_ENST00000587090.1_Missense_Mutation_p.C92F|SPINT2_ENST00000454580.3_Missense_Mutation_p.C85F	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	142	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACTGGGCCTTGCCGTGCATCC	0.542																																																	0													78	72	74					19																	38780792		2203	4300	6503	SO:0001583	missense	0			U78095	CCDS12510.1, CCDS54261.1	19q13.2	2010-05-12	2005-08-17		ENSG00000167642	ENSG00000167642			11247	protein-coding gene	gene with protein product	"placental bikunin"	605124	"serine protease inhibitor, Kunitz type, 2"			9115294, 9346890	Standard	NM_021102		Approved	Kop, HAI-2	uc002ohr.2	O43291		ENST00000301244.7:c.425G>T	19.37:g.38780792G>T	ENSP00000301244:p.Cys142Phe		A8K667|B4DLU1|O00271|O14895|Q5TZQ3|Q969E0	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.C142F	ENST00000301244.7	37	c.425	CCDS12510.1	19	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354759	0.61293	.	.	ENSG00000167642	ENST00000301244;ENST00000454580	T;T	0.81078	-1.45;-1.45	5.55	5.55	0.83447	Proteinase inhibitor I2, Kunitz metazoa (5);	0.000000	0.64402	D	0.000002	D	0.93966	0.8068	H	0.98769	4.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95927	0.8935	10	0.87932	D	0	.	15.0009	0.71469	0.0:0.0:1.0:0.0	.	85;142	B4DLU1;O43291	.;SPIT2_HUMAN	F	142;85	ENSP00000301244:C142F;ENSP00000389788:C85F	ENSP00000301244:C142F	C	+	2	0	SPINT2	43472632	1.000000	0.71417	1.000000	0.80357	0.097000	0.18754	8.260000	0.89857	2.620000	0.88729	0.655000	0.94253	TGC	SPINT2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000167642		0.542	SPINT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINT2	HGNC	protein_coding	OTTHUMT00000458151.2	-	0	70	0	G			38780792	1	tier1	-	no_errors	ENST00000301244	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	38780792	G	T	38780792	3	4	39	1	0	0	0	0	1	0	0	0	15116	1319	46	3	443	3	SPINT2	19	38780792	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2438893	38780792	20348191	303	9617											
CATSPERG	57828	genome.wustl.edu	37	chr19	38845408	38845408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagctgtgccctgtgtatttCcatagcaatggctctgagta	9	13	10	9	0	1	1	0	1	1	0	2	1	2	1	2	1	3	5	2	1	5	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:38845408C>T	ENST00000409235.3	+	9	1171	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F	CATSPERG_ENST00000410018.1_Silent_p.F352F|CATSPERG_ENST00000215069.4_Silent_p.F365F	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	352					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGTGTATTTCCATAGCAATG	0.542																																																	0													204	185	192					19																	38845408		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1056C>T	19.37:g.38845408C>T			A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.S285F	ENST00000409235.3	37	c.854	CCDS12514.2	19																																																																																			CATSPERG	-	NULL	ENSG00000099338		0.542	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	-	0	71	0	C	NM_021185		38845408	1	tier1	-	no_errors	ENST00000312265	ensembl	human	known	74_37	missense	38.46	40	25	SNP	0.079	T	T	38845408	C	T	38845408	2	4	39	1	0	0	0	0	0	0	0	1	2699	854	30	3		3	CATSPERG	19	38845408	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	64616	38845408	20283575	304	9618											
ZNF180	7733	genome.wustl.edu	37	chr19	44980661	44980661	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagtatgagttgcctgAtgcctaataagtttatagct	10	16	8	7	0	2	2	1	2	1	0	2	2	2	2	2	0	3	4	2	0	5	8			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:44980661A>G	ENST00000221327.4	-	5	2318	c.2037T>C	c.(2035-2037)caT>caC	p.H679H	ZNF180_ENST00000391956.4_Silent_p.H654H|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Silent_p.H652H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GAGTTGCCTGATGCCTAATAA	0.313																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0													82	87	85					19																	44980661		2202	4299	6501	SO:0001819	synonymous_variant	0			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.2037T>C	19.37:g.44980661A>G			B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H679	ENST00000221327.4	37	c.2037	CCDS12639.1	19																																																																																			ZNF180	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167384		0.313	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	-	0	27	0	A	NM_013256		44980661	-1	tier1	-	no_errors	ENST00000221327	ensembl	human	known	74_37	silent	30.77	36	16	SNP	0.994	G	G	44980661	A	G	44980661	2	3	39	1	0	0	0	0	0	0	0	1	17796	330	12	4		4	ZNF180	19	44980661	Silent	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	6135253	44980661	14148322	305	9619											
CYTH2	9266	genome.wustl.edu	37	chr19	48981804	48981804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacatggtgtaccggatctCggcccccacgcaggaggaga	9	5	13	14	3	1	1	0	0	1	1	2	4	1	3	4	5	1	2	4	5	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:48981804C>T	ENST00000452733.2	+	11	1543	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	CYTH2_ENST00000427476.1_Missense_Mutation_p.S357L|CTC-273B12.8_ENST00000599877.1_lincRNA			Q99418	CYH2_HUMAN	cytohesin 2	357	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)	p.S357L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TACCGGATCTCGGCCCCCACG	0.612																																																	1	Substitution - Missense(1)	lung(1)											56	55	55					19																	48981804		2203	4300	6503	SO:0001583	missense	0			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.1067C>T	19.37:g.48981804C>T	ENSP00000408236:p.Ser356Leu		A8K8P0|Q8IXY9|Q92958	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.S357L	ENST00000452733.2	37	c.1070	CCDS12722.1	19	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810800	0.70797	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	T;T	0.77620	-1.11;-1.11	4.47	3.43	0.39272	.	0.072620	0.56097	D	0.000028	T	0.80325	0.4602	M	0.84585	2.705	0.58432	D	0.999999	P	0.39003	0.654	B	0.41510	0.359	T	0.82390	-0.0481	10	0.72032	D	0.01	.	10.6794	0.45804	0.0:0.9052:0.0:0.0948	.	356	Q99418-2	.	L	356;357	ENSP00000408236:S356L;ENSP00000391648:S357L	ENSP00000391648:S357L	S	+	2	0	CYTH2	53673616	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	5.807000	0.69157	1.227000	0.43598	0.655000	0.94253	TCG	CYTH2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105443		0.612	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYTH2	HGNC	protein_coding	OTTHUMT00000317060.1		0	94	0	C	NM_004228		48981804	1			no_errors	ENST00000427476	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.999	T	T	48981804	C	T	48981804	3	4	39	1	0	0	0	0	1	0	0	0	4213	893	31	1	1112	1	CYTH2	19	48981804	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	4001143	48981804	10147179	306	9620											
AP2A1	160	genome.wustl.edu	37	chr19	50285877	50285877	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgacctggccagccgCaaccccaccttcatgtgcct	10	7	8	16	1	1	2	1	1	0	1	1	2	1	2	7	1	3	1	7	1	3	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:50285877C>A	ENST00000359032.5	+	4	369	c.369C>A	c.(367-369)cgC>cgA	p.R123R	AP2A1_ENST00000354293.5_Silent_p.R123R|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	123					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGGCCAGCCGCAACCCCACCT	0.617																																																	0													32	36	34					19																	50285877		2160	4257	6417	SO:0001819	synonymous_variant	0			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.369C>A	19.37:g.50285877C>A			Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.R123	ENST00000359032.5	37	c.369	CCDS46148.1	19																																																																																			AP2A1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000196961		0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	AP2A1	HGNC	protein_coding	OTTHUMT00000465809.1	-	0	81	0	C			50285877	1	tier1	-	no_errors	ENST00000354293	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A	A	50285877	C	A	50285877	2	1	39	1	0	0	0	0	0	0	0	1	739	697	25	3		3	AP2A1	19	50285877	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1304073	50285877	8843106	307	9621											
CD33	945	genome.wustl.edu	37	chr19	51728475	51728475	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccctcgtttccccacaggGgccctggctatggatccaaa	8	8	10	15	1	0	0	0	0	0	0	3	2	2	1	5	4	0	2	5	4	2	2	rs143114570	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:51728475G>T	ENST00000262262.4	+	2	60	c.39G>T	c.(37-39)ggG>ggT	p.G13G	CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Splice_Site_p.G13G|CD33_ENST00000421133.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	13					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCCCCACAGGGGCCCTGGCTA	0.622																																																	0													38	42	40					19																	51728475		2203	4300	6503	SO:0001630	splice_region_variant	0			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.38-1G>T	19.37:g.51728475G>T			B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G13	ENST00000262262.4	37	c.39	CCDS33084.1	19																																																																																			CD33	-	NULL	ENSG00000105383		0.622	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD33	HGNC	protein_coding	OTTHUMT00000464199.2	-	0	76	0	G	NM_001772	Silent	51728475	1	tier1	-	no_errors	ENST00000262262	ensembl	human	known	74_37	silent	32.43	25	12	SNP	0.000	T	T	51728475	G	T	51728475	5	4	39	1	0	0	0	0	0	0	1	0	3012	1246	43	3	45	3	CD33	19	51728475	Splice_Site	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1442598	51728475	7400508	308	9622											
ZNF320	162967	genome.wustl.edu	37	chr19	53385108	53385108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtcatgaatgtctttctCaatttcctgggagcaaaatg	13	13	8	7	0	3	1	2	1	2	0	5	2	4	2	1	1	1	1	1	1	5	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:53385108C>T	ENST00000595635.1	-	8	772	c.271G>A	c.(271-273)Gag>Aag	p.E91K	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.E91K|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	91					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATGTCTTTCTCAATTTCCTGG	0.403																																																	0													142	142	142					19																	53385108		2203	4300	6503	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.271G>A	19.37:g.53385108C>T	ENSP00000473091:p.Glu91Lys		Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E91K	ENST00000595635.1	37	c.271	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	2.900	-0.227737	0.06022	.	.	ENSG00000182986	ENST00000391781	T	0.06608	3.28	1.18	-2.36	0.06663	.	.	.	.	.	T	0.03608	0.0103	L	0.41236	1.265	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.49570	-0.8926	9	0.07813	T	0.8	.	0.4832	0.00551	0.1999:0.2389:0.3328:0.2284	.	91	A2RRD8	ZN320_HUMAN	K	91	ENSP00000375660:E91K	ENSP00000375660:E91K	E	-	1	0	ZNF320	58076920	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-1.196000	0.03041	-1.571000	0.01663	0.184000	0.17185	GAG	ZNF320	-	NULL	ENSG00000182986		0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	-	0	56	0	C	NM_207333		53385108	-1	tier1	-	no_errors	ENST00000391781	ensembl	human	known	74_37	missense	29.36	76	32	SNP	0.000	T	T	53385108	C	T	53385108	3	4	39	1	0	0	0	0	1	0	0	0	17887	835	29	3	1262	3	ZNF320	19	53385108	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	1656633	53385108	5743875	309	9623											
MYADM	91663	genome.wustl.edu	37	chr19	54377604	54377604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcggccagcctcggcgctCgagagatgtaagctgcagcc	7	6	15	13	4	0	1	0	0	0	1	2	3	0	1	3	3	4	4	3	3	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:54377604C>T	ENST00000391769.2	+	3	1101	c.821C>T	c.(820-822)tCg>tTg	p.S274L	MYADM_ENST00000391770.4_Missense_Mutation_p.S274L|MYADM_ENST00000391768.2_Missense_Mutation_p.S274L|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.S274L|MYADM_ENST00000336967.3_Missense_Mutation_p.S274L	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	274	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCTCGGCGCTCGAGAGATGTA	0.622																																																	0													47	43	45					19																	54377604		2203	4300	6503	SO:0001583	missense	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.821C>T	19.37:g.54377604C>T	ENSP00000375649:p.Ser274Leu		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	pfam_Marvel	p.S274L	ENST00000391769.2	37	c.821	CCDS12866.1	19	.	.	.	.	.	.	.	.	.	.	C	8.609	0.888670	0.17540	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	3.78	-2.24	0.06909	Marvel (1);MARVEL-like domain (1);	1.186040	0.06432	N	0.724400	T	0.20780	0.0500	M	0.62723	1.935	0.09310	N	1	B	0.21688	0.059	B	0.19391	0.025	T	0.34675	-0.9819	10	0.11182	T	0.66	-12.3108	4.4664	0.11691	0.1225:0.3692:0.4106:0.0977	.	274	Q96S97	MYADM_HUMAN	L	274;274;274;237;274;274	ENSP00000337222:S274L;ENSP00000375650:S274L;ENSP00000375651:S274L;ENSP00000375649:S274L;ENSP00000375648:S274L	ENSP00000337222:S274L	S	+	2	0	MYADM	59069416	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.909000	0.04058	-0.230000	0.09840	0.305000	0.20034	TCG	MYADM	-	pfam_Marvel	ENSG00000179820		0.622	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1	-	0	72	0	C	NM_138373		54377604	1	tier1	-	no_errors	ENST00000336967	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.000	T	T	54377604	C	T	54377604	3	4	39	1	0	0	0	0	1	0	0	0	10044	893	31	1	823	1	MYADM	19	54377604	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	992496	54377604	4751379	310	9624											
CNOT3	4849	genome.wustl.edu	37	chr19	54652456	54652456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccccttccggccccCacaacccacctcccagcacc	6	4	6	25	1	0	0	0	0	0	0	2	0	2	0	10	2	2	1	10	2	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr19:54652456C>A	ENST00000406403.1	+	11	2987	c.1384C>A	c.(1384-1386)Cac>Aac	p.H462N	CNOT3_ENST00000358389.3_Missense_Mutation_p.H281N|CNOT3_ENST00000221232.5_Missense_Mutation_p.H462N			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	462	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTCCGGCCCCCACAACCCACC	0.652																																																	0													18	22	21					19																	54652456		2202	4300	6502	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1384C>A	19.37:g.54652456C>A	ENSP00000383954:p.His462Asn		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.H462N	ENST00000406403.1	37	c.1384	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812487	0.50527	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;T	0.41400	1.0;1.0	3.91	3.91	0.45181	.	0.474289	0.21731	N	0.069964	T	0.27765	0.0683	N	0.19112	0.55	0.44927	D	0.997944	P;B;P	0.47409	0.808;0.436;0.895	B;B;B	0.41236	0.161;0.057;0.351	T	0.04347	-1.0958	10	0.14252	T	0.57	-19.2338	15.2101	0.73214	0.0:1.0:0.0:0.0	.	462;462;386	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	N	462;281;462	ENSP00000221232:H462N;ENSP00000383954:H462N	ENSP00000221232:H462N	H	+	1	0	CNOT3	59344268	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	3.875000	0.56108	2.174000	0.68829	0.585000	0.79938	CAC	CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.652	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	-	0	95	0	C	NM_014516		54652456	1	tier1	-	no_errors	ENST00000221232	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	54652456	C	A	54652456	3	1	39	1	0	0	0	0	1	0	0	0	3627	594	21	3	1426	3	CNOT3	19	54652456	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	274852	54652456	4476527	311	9625											
TRIB3	57761	genome.wustl.edu	37	chr20	377203	377203	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctgcacccctggctgCgacaggacccgatgccctta	6	8	9	18	2	0	0	0	0	0	0	2	3	2	1	6	2	3	2	6	2	1	1	rs371072439		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:377203C>T	ENST00000217233.3	+	4	1499	c.946C>T	c.(946-948)Cga>Tga	p.R316*	TRIB3_ENST00000422053.2_Nonsense_Mutation_p.R343*	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CCCCTGGCTGCGACAGGACCC	0.672																																					Melanoma(101;421 2374 19538)												0								C	stop/ARG	1,4393		0,1,2196	50	47	48		946	3.1	0.2	20		48	0,8582		0,0,4291	no	stop-gained	TRIB3	NM_021158.3		0,1,6487	TT,TC,CC		0.0,0.0228,0.0077		316/359	377203	1,12975	2197	4291	6488	SO:0001587	stop_gained	0			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.946C>T	20.37:g.377203C>T	ENSP00000217233:p.Arg316*		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R343*	ENST00000217233.3	37	c.1027	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.964372	0.97151	2.28E-4	0.0	ENSG00000101255	ENST00000217233;ENST00000422053	.	.	.	5.12	3.08	0.35506	.	0.357887	0.20615	N	0.088887	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-13.3492	7.4748	0.27369	0.3833:0.4654:0.1513:0.0	.	.	.	.	X	316;343	.	ENSP00000217233:R316X	R	+	1	2	TRIB3	325203	0.200000	0.23398	0.216000	0.23742	0.298000	0.27526	0.545000	0.23268	0.639000	0.30564	0.650000	0.86243	CGA	TRIB3	-	superfamily_Kinase-like_dom	ENSG00000101255		0.672	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	-	0	59	0	C	NM_021158		377203	1	tier1	-	no_errors	ENST00000422053	ensembl	human	known	74_37	nonsense	35.71	18	10	SNP	0.013	T	T	377203	C	T	377203	4	4	39	1	0	0	0	0	0	1	0	0	16532	760	27	1	956	1	TRIB3	20	377203	Nonsense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		377203	62648317	312	9626											
PAK7	57144	genome.wustl.edu	37	chr20	9560912	9560912	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcggttcctggagtccCgagcctgacctggacctctg	6	10	11	14	2	2	1	1	1	1	0	5	4	4	3	5	3	1	1	5	3	0	1	rs149925869		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:9560912C>A	ENST00000378429.3	-	5	1416	c.870G>T	c.(868-870)tcG>tcT	p.S290S	PAK7_ENST00000378423.1_Silent_p.S290S|PAK7_ENST00000353224.5_Silent_p.S290S|RP5-986I17.2_ENST00000428769.1_RNA	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	290	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTGGAGTCCCGAGCCTGACC	0.567																																																	0													218	179	192					20																	9560912		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.870G>T	20.37:g.9560912C>A			A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.S290	ENST00000378429.3	37	c.870	CCDS13107.1	20																																																																																			PAK7	-	NULL	ENSG00000101349		0.567	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	-	0	75	0	C			9560912	-1	tier1	-	no_errors	ENST00000353224	ensembl	human	known	74_37	silent	32.47	52	25	SNP	0.391	A	A	9560912	C	A	9560912	2	1	39	1	0	0	0	0	0	0	0	1	11444	639	23	2		2	PAK7	20	9560912	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	9183709	9560912	53464608	313	9627											
CSRP2BP	57325	genome.wustl.edu	37	chr20	18165377	18165377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatttcatttctgttcGtccaccctgaatggagaaga	10	14	7	10	1	2	3	1	1	1	2	4	4	3	3	2	1	1	1	2	1	3	4	rs369048963		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:18165377G>A	ENST00000435364.3	+	9	2457	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.V578I|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.V705I	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	706	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATTTCTGTTCGTCCACCCTGA	0.383																																																	0													208	174	185					20																	18165377		2203	4300	6503	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2116G>A	20.37:g.18165377G>A	ENSP00000392318:p.Val706Ile		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V706I	ENST00000435364.3	37	c.2116	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.320306	0.95682	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.99	5.99	0.97316	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	L	0.48935	1.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	T	0.75932	-0.3143	10	0.72032	D	0.01	-22.9877	20.4777	0.99188	0.0:0.0:1.0:0.0	.	578;706	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	I	706;705;706;578	ENSP00000278816:V706I;ENSP00000366909:V705I;ENSP00000392318:V706I;ENSP00000425909:V578I	ENSP00000278816:V706I	V	+	1	0	CSRP2BP	18113377	1.000000	0.71417	0.982000	0.44146	0.948000	0.59901	9.750000	0.98875	2.840000	0.97914	0.655000	0.94253	GTC	CSRP2BP	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000149474		0.383	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	-	0	24	0	G	NM_020536		18165377	1	tier1	-	no_errors	ENST00000435364	ensembl	human	known	74_37	missense	34.62	17	9	SNP	1.000	A	A	18165377	G	A	18165377	3	1	39	1	0	0	0	0	1	0	0	0	3977	1145	40	1	2150	1	CSRP2BP	20	18165377	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8604465	18165377	44860143	314	9628											
CHD6	84181	genome.wustl.edu	37	chr20	40033753	40033753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaagtgcaggtggttGccatgggtggactgaggagt	8	9	19	5	0	0	1	0	1	0	0	0	4	0	4	1	6	2	2	1	6	1	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:40033753G>T	ENST00000373233.3	-	37	7805	c.7628C>A	c.(7627-7629)gCa>gAa	p.A2543E	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2543					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCAGGTGGTTGCCATGGGTGG	0.562																																																	0													95	89	91					20																	40033753		2203	4300	6503	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7628C>A	20.37:g.40033753G>T	ENSP00000362330:p.Ala2543Glu		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A2543E	ENST00000373233.3	37	c.7628	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571376	0.45798	.	.	ENSG00000124177	ENST00000373233	D	0.86097	-2.07	5.55	5.55	0.83447	.	0.237073	0.30142	N	0.010309	T	0.77751	0.4177	L	0.28014	0.82	0.80722	D	1	P	0.35433	0.501	B	0.27608	0.081	T	0.77913	-0.2410	10	0.51188	T	0.08	-6.1907	19.7069	0.96076	0.0:0.0:1.0:0.0	.	2543	Q8TD26	CHD6_HUMAN	E	2543	ENSP00000362330:A2543E	ENSP00000362330:A2543E	A	-	2	0	CHD6	39467167	1.000000	0.71417	0.939000	0.37840	0.921000	0.55340	6.126000	0.71635	2.894000	0.99253	0.591000	0.81541	GCA	CHD6	-	NULL	ENSG00000124177		0.562	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	-	0	30	0	G			40033753	-1	tier1	-	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.953	T	T	40033753	G	T	40033753	3	4	39	1	0	0	0	0	1	0	0	0	3336	1319	46	3	523	3	CHD6	20	40033753	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	21868376	40033753	22991767	315	9629											
IFT52	51098	genome.wustl.edu	37	chr20	42275603	42275603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatcgatacaagtgaaacaGcattccagaacaatttctga	17	9	6	9	1	1	3	0	2	1	1	3	4	2	3	1	0	4	1	1	0	5	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:42275603G>T	ENST00000373030.3	+	14	1424	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S	IFT52_ENST00000373039.4_Missense_Mutation_p.A432S|IFT52_ENST00000471199.1_3'UTR	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	432					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAGTGAAACAGCATTCCAGAA	0.348																																																	0													173	163	166					20																	42275603		2203	4300	6503	SO:0001583	missense	0			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"Intraflagellar transport homologs"	15901	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 9", "intraflagellar transport 52 homolog (Chlamydomonas)"	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1294G>T	20.37:g.42275603G>T	ENSP00000362121:p.Ala432Ser		B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Missense_Mutation	SNP	pfam_ABC_transp_unknown	p.A432S	ENST00000373030.3	37	c.1294	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	G	9.830	1.188055	0.21954	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.93	2.91	0.33838	.	0.597033	0.15530	N	0.257552	T	0.15262	0.0368	N	0.02802	-0.49	0.20764	N	0.999855	B	0.06786	0.001	B	0.04013	0.001	T	0.19289	-1.0310	9	0.15499	T	0.54	0.5114	11.6266	0.51149	0.1613:0.0:0.8387:0.0	.	432	Q9Y366	IFT52_HUMAN	S	432	.	ENSP00000362121:A432S	A	+	1	0	IFT52	41709017	1.000000	0.71417	0.775000	0.31657	0.943000	0.58893	2.061000	0.41403	1.189000	0.43028	0.655000	0.94253	GCA	IFT52	-	NULL	ENSG00000101052		0.348	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	-	0	56	0	G	NM_016004		42275603	1	tier1	-	no_errors	ENST00000373030	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.869	T	T	42275603	G	T	42275603	3	4	39	1	0	0	0	0	1	0	0	0	7588	971	34	3	1344	3	IFT52	20	42275603	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2241850	42275603	20749917	316	9630											
HNF4A	3172	genome.wustl.edu	37	chr20	43057081	43057081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacaatgcccactcacctCagcaacggacagatgtgtga	14	6	8	13	1	2	2	2	1	0	1	2	3	2	3	2	1	4	1	2	1	3	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:43057081C>T	ENST00000316099.4	+	9	1325	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L	HNF4A_ENST00000457232.1_Silent_p.L390L|HNF4A_ENST00000316673.4_Silent_p.L390L|HNF4A_ENST00000415691.2_Silent_p.L412L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	412					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTCACCTCAGCAACGGAC	0.582																																					Colon(79;2 1269 8820 14841 52347)												0													96	67	77					20																	43057081		2203	4300	6503	SO:0001819	synonymous_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1236C>T	20.37:g.43057081C>T			A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.L412	ENST00000316099.4	37	c.1236	CCDS13330.1	20																																																																																			HNF4A	-	NULL	ENSG00000101076		0.582	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	-	0	50	0	C			43057081	1	tier1	-	no_errors	ENST00000316099	ensembl	human	known	74_37	silent	14.71	29	5	SNP	1.000	T	T	43057081	C	T	43057081	2	4	39	1	0	0	0	0	0	0	0	1	7280	813	29	3		3	HNF4A	20	43057081	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	781478	43057081	19968439	317	9631											
STK4	6789	genome.wustl.edu	37	chr20	43607120	43607120	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaaagctattcataaagaGaccggccagattgttgctat	14	11	8	8	1	1	2	1	0	0	2	1	3	1	2	2	1	3	3	2	1	6	7			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:43607120G>A	ENST00000372806.3	+	3	248	c.153G>A	c.(151-153)gaG>gaA	p.E51E	STK4_ENST00000372801.1_Silent_p.E51E|STK4_ENST00000396731.4_Silent_p.E51E|STK4_ENST00000499879.2_Silent_p.E51E	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTCATAAAGAGACCGGCCAGA	0.393																																					GBM(187;1039 2137 11798 21916 33213)												0													76	77	76					20																	43607120		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"mammalian sterile 20-like 1", "yeast Ste20-like", "kinase responsive to stress 2"	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.153G>A	20.37:g.43607120G>A			B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E51	ENST00000372806.3	37	c.153	CCDS13341.1	20																																																																																			STK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101109		0.393	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	-	0	37	0	G	NM_006282		43607120	1	tier1	-	no_errors	ENST00000372806	ensembl	human	known	74_37	silent	40.74	48	33	SNP	1.000	A	A	43607120	G	A	43607120	2	1	39	1	0	0	0	0	0	0	0	1	15353	933	33	3		3	STK4	20	43607120	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	550039	43607120	19418400	318	9632											
ATP9A	10079	genome.wustl.edu	37	chr20	50287676	50287676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtgagtaagtaCgaaatcctgcccagctgctc	8	12	10	11	1	2	1	0	1	2	0	4	2	3	1	2	0	4	4	2	0	3	3	rs376405770		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:50287676C>T	ENST00000338821.5	-	12	1422	c.1158G>A	c.(1156-1158)tcG>tcA	p.S386S	ATP9A_ENST00000402822.1_Silent_p.S265S|ATP9A_ENST00000311637.5_Silent_p.S250S	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	386					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGAGTAAGTACGAAATCCTGC	0.552																																																	0													82	71	75					20																	50287676		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1158G>A	20.37:g.50287676C>T			E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S386	ENST00000338821.5	37	c.1158	CCDS33489.1	20																																																																																			ATP9A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000054793		0.552	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0	33	0	C	NM_006045		50287676	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.016	T	T	50287676	C	T	50287676	2	4	39	1	0	0	0	0	0	0	0	1	1199	523	19	1		1	ATP9A	20	50287676	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	6680556	50287676	12737844	319	9633											
GNAS	2778	genome.wustl.edu	37	chr20	57484421	57484421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggacctgcttcgctgccGtgtcctgacttctggaatct	5	13	10	13	2	3	1	1	1	2	0	5	3	4	3	3	2	2	2	3	2	1	2	rs121913495		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:57484421G>A	ENST00000371085.3	+	8	1026	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.R844H|GNAS_ENST00000306090.10_Missense_Mutation_p.R187H|GNAS_ENST00000265620.7_Missense_Mutation_p.R186H|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202H|GNAS_ENST00000371095.3_Missense_Mutation_p.R187H|GNAS_ENST00000371102.4_Missense_Mutation_p.R830H	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201H(81)|p.R844H(4)|p.R201L(2)|p.R844L(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTTCGCTGCCGTGTCCTGACT	0.423			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	88	Substitution - Missense(88)	pancreas(28)|large_intestine(19)|thyroid(12)|pituitary(12)|liver(6)|biliary_tract(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)											80	78	79					20																	57484421		2203	4300	6503	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.602G>A	20.37:g.57484421G>A	ENSP00000360126:p.Arg201His		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R202H	ENST00000371085.3	37	c.605	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.430570	0.96150	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-2.96;-5.93	5.53	5.53	0.82687	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;0.983;1.0	D	0.96812	0.9597	10	0.87932	D	0	.	19.4606	0.94915	0.0:0.0:1.0:0.0	.	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	H	844;830;187;201;202;186;187	ENSP00000360141:R844H;ENSP00000360143:R830H;ENSP00000360136:R187H;ENSP00000360126:R201H;ENSP00000346328:R202H;ENSP00000265620:R186H;ENSP00000304472:R187H	ENSP00000265620:R186H	R	+	2	0	GNAS	56917816	1.000000	0.71417	0.963000	0.40424	0.936000	0.57629	9.291000	0.96070	2.596000	0.87737	0.563000	0.77884	CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000087460		0.423	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	-	0	68	0	G	NM_000516		57484421	1	tier1	rs121913495	no_errors	ENST00000354359	ensembl	human	known	74_37	missense	46.97	34	31	SNP	1.000	A	A	57484421	G	A	57484421	3	1	39	1	0	0	0	0	1	0	0	0	6536	1145	40	1	3449	1	GNAS	20	57484421	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	7196745	57484421	5541099	320	9634											
GMEB2	26205	genome.wustl.edu	37	chr20	62250679	62250679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccctccacaccactgccGtccactgcagtgtccggagt	7	7	8	19	2	0	0	0	0	0	0	3	1	3	1	7	1	2	1	7	1	0	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr20:62250679G>A	ENST00000266068.1	-	1	550	c.72C>T	c.(70-72)gaC>gaT	p.D24D	GMEB2_ENST00000370077.1_Silent_p.D24D			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	24				DGSGVEGVKTVLVTTNLAPHG -> CPAGCALRDPDSILSS LHFTR (in Ref. 6). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CACCACTGCCGTCCACTGCAG	0.647																																																	0													160	93	115					20																	62250679		2203	4300	6503	SO:0001819	synonymous_variant	0			AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.72C>T	20.37:g.62250679G>A			E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Silent	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom	p.D24	ENST00000266068.1	37	c.72	CCDS13528.1	20																																																																																			GMEB2	-	NULL	ENSG00000101216		0.647	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMEB2	HGNC	protein_coding	OTTHUMT00000080166.1	-	0	101	0	G	NM_012384		62250679	-1	tier1	-	no_errors	ENST00000266068	ensembl	human	known	74_37	silent	40.00	27	18	SNP	0.297	A	A	62250679	G	A	62250679	2	1	39	1	0	0	0	0	0	0	0	1	6514	1136	40	1		1	GMEB2	20	62250679	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	4766258	62250679	774841	321	9635											
NCAM2	4685	genome.wustl.edu	37	chr21	22746285	22746285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatatgactgtgaagctGcaagcagaattggagggcat	13	8	15	5	0	0	4	0	2	0	2	0	6	0	5	0	3	3	4	0	3	4	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr21:22746285G>T	ENST00000400546.1	+	9	1396	c.1147G>T	c.(1147-1149)Gca>Tca	p.A383S	NCAM2_ENST00000535285.1_Missense_Mutation_p.A408S|NCAM2_ENST00000284894.7_Missense_Mutation_p.A241S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	383	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTGTGAAGCTGCAAGCAGAAT	0.398																																																	0													168	161	164					21																	22746285		1916	4144	6060	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1147G>T	21.37:g.22746285G>T	ENSP00000383392:p.Ala383Ser		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.A383S	ENST00000400546.1	37	c.1147	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	12.92	2.083176	0.36758	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.66099	-0.19;-0.19;-0.19	5.54	5.54	0.83059	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.163816	0.56097	D	0.000038	T	0.48857	0.1523	N	0.00985	-1.075	0.42832	D	0.994029	D;D;D	0.58970	0.982;0.984;0.972	D;P;P	0.65684	0.937;0.846;0.664	T	0.54840	-0.8233	10	0.05833	T	0.94	-22.087	18.1211	0.89572	0.0:0.0:1.0:0.0	.	408;241;383	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	383;241;408	ENSP00000383392:A383S;ENSP00000284894:A241S;ENSP00000441887:A408S	ENSP00000284894:A241S	A	+	1	0	NCAM2	21668156	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.629000	0.67798	2.618000	0.88619	0.644000	0.83932	GCA	NCAM2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154654		0.398	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	57	0	G	NM_004540		22746285	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	T	T	22746285	G	T	22746285	3	4	39	1	0	0	0	0	1	0	0	0	10242	1319	46	3	1181	3	NCAM2	21	22746285	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		22746285	25383610	322	9636											
HUNK	30811	genome.wustl.edu	37	chr21	33370907	33370907	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtggcttcttcttccatgGagttcatccccgtgccaccg	4	13	10	14	2	3	0	1	0	2	0	5	1	5	1	5	2	1	2	5	2	0	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr21:33370907G>T	ENST00000270112.2	+	11	1915	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	519					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTCTTCCATGGAGTTCATCCC	0.537																																																	0													110	104	106					21																	33370907		2203	4300	6503	SO:0001587	stop_gained	0			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1555G>T	21.37:g.33370907G>T	ENSP00000270112:p.Glu519*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E519*	ENST00000270112.2	37	c.1555	CCDS13610.1	21	.	.	.	.	.	.	.	.	.	.	G	41	8.971257	0.99021	.	.	ENSG00000142149	ENST00000270112	.	.	.	4.55	4.55	0.56014	.	0.058430	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-27.7318	17.5126	0.87764	0.0:0.0:1.0:0.0	.	.	.	.	X	519	.	ENSP00000270112:E519X	E	+	1	0	HUNK	32292778	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	6.186000	0.72026	2.352000	0.79861	0.491000	0.48974	GAG	HUNK	-	NULL	ENSG00000142149		0.537	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	-	0	48	0	G	NM_014586		33370907	1	tier1	-	no_errors	ENST00000270112	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	33370907	G	T	33370907	4	4	39	1	0	0	0	0	0	1	0	0	7485	1175	41	3	1597	3	HUNK	21	33370907	Nonsense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	10624622	33370907	14758988	323	9637											
DYRK1A	1859	genome.wustl.edu	37	chr21	38845005	38845005	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagagacttcagcatgCaaaccttcatctgttcggct	10	10	11	10	1	3	1	2	0	1	1	4	4	3	3	1	3	3	4	1	3	1	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr21:38845005C>A	ENST00000398960.2	+	2	105	c.30C>A	c.(28-30)tgC>tgA	p.C10*	DYRK1A_ENST00000339659.4_Nonsense_Mutation_p.C10*|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.C10*|DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.C10*|DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.C10*|DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.C10*	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	10					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTTCAGCATGCAAACCTTCAT	0.423																																					Melanoma(114;464 1602 31203 43785 45765)												0													107	104	105					21																	38845005		2203	4300	6503	SO:0001587	stop_gained	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.30C>A	21.37:g.38845005C>A	ENSP00000381932:p.Cys10*		O60769|Q92582|Q92810|Q9UNM5	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C10*	ENST00000398960.2	37	c.30	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	C	48	14.640644	0.99804	.	.	ENSG00000157540	ENST00000338785;ENST00000455097;ENST00000426672;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000319032:C10X	C	+	3	2	DYRK1A	37766875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	TGC	DYRK1A	-	NULL	ENSG00000157540		0.423	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	-	0	39	0	C	NM_001396		38845005	1	tier1	-	no_errors	ENST00000398960	ensembl	human	known	74_37	nonsense	21.74	36	10	SNP	1.000	A	A	38845005	C	A	38845005	4	1	39	1	0	0	0	0	0	1	0	0	4868	718	25	3	36	3	DYRK1A	21	38845005	Nonsense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5474098	38845005	9284890	324	9638											
LSS	4047	genome.wustl.edu	37	chr21	47627461	47627461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcagaaacgatccagcCgcagtccagcgtactgaagg	12	5	12	12	3	1	2	1	1	0	1	3	3	3	2	3	1	4	3	3	1	3	1	rs375698498		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr21:47627461C>T	ENST00000397728.3	-	15	1426	c.1348G>A	c.(1348-1350)Ggc>Agc	p.G450S	LSS_ENST00000457828.2_Missense_Mutation_p.G370S|LSS_ENST00000356396.4_Missense_Mutation_p.G450S|LSS_ENST00000522411.1_Missense_Mutation_p.G439S	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	450					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ACGATCCAGCCGCAGTCCAGC	0.612													C|||	1	0.000199681	0	0.0014	5008	,	,		18186	0		0	False		,,,				2504	0				Pancreas(114;955 2313 34923 50507)												0								C	SER/GLY,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	91	74	80		1348,1315,1108,1348	5.2	1	21		80	0,8600		0,0,4300	no	missense,missense,missense,missense	LSS	NM_001001438.2,NM_001145436.1,NM_001145437.1,NM_002340.5	56,56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	450/733,439/722,370/653,450/733	47627461	1,13005	2203	4300	6503	SO:0001583	missense	0			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1348G>A	21.37:g.47627461C>T	ENSP00000380837:p.Gly450Ser		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.G450S	ENST00000397728.3	37	c.1348	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	C	32	5.116721	0.94385	2.27E-4	0.0	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.2	5.2	0.72013	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71354	-0.4618	10	0.59425	D	0.04	.	19.2296	0.93833	0.0:1.0:0.0:0.0	.	439;450	E9PEI9;P48449	.;ERG7_HUMAN	S	450;370;450;439	ENSP00000348762:G450S;ENSP00000409191:G370S;ENSP00000380837:G450S;ENSP00000429133:G439S	ENSP00000348762:G450S	G	-	1	0	LSS	46451889	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	5.731000	0.68554	2.814000	0.96858	0.655000	0.94253	GGC	LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	ENSG00000160285		0.612	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	-	0	117	0	C			47627461	-1	tier1	-	no_errors	ENST00000356396	ensembl	human	known	74_37	missense	38.75	49	31	SNP	1.000	T	T	47627461	C	T	47627461	3	4	39	1	0	0	0	0	1	0	0	0	9100	652	23	1	882	1	LSS	21	47627461	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8782456	47627461	502434	325	9639											
PCNT	5116	genome.wustl.edu	37	chr21	47851826	47851826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgcagcagcaagccctGcattctcagcagcagcttga	11	7	11	12	0	1	1	1	1	1	0	2	1	1	1	1	1	8	7	1	1	2	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr21:47851826G>A	ENST00000359568.5	+	38	8555	c.8448G>A	c.(8446-8448)ctG>ctA	p.L2816L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2816					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCAAGCCCTGCATTCTCAGC	0.582																																																	0													64	59	61					21																	47851826		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8448G>A	21.37:g.47851826G>A			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.L2816	ENST00000359568.5	37	c.8448	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.582	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	42	0	G	NM_006031		47851826	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	silent	55.56	16	20	SNP	0.000	A	A	47851826	G	A	47851826	2	1	39	1	0	0	0	0	0	0	0	1	11629	1306	46	3		3	PCNT	21	47851826	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	224365	47851826	278069	326	9640											
CCDC116	164592	genome.wustl.edu	37	chr22	21991274	21991274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggacaatgagggccGtgataaagccgagattgaag	14	6	15	6	2	0	4	0	3	0	1	0	7	0	6	2	3	1	0	2	3	4	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr22:21991274G>T	ENST00000292779.3	+	5	1918	c.1757G>T	c.(1756-1758)cGt>cTt	p.R586L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AATGAGGGCCGTGATAAAGCC	0.552																																																	0													63	56	59					22																	21991274		2203	4300	6503	SO:0001583	missense	0			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1757G>T	22.37:g.21991274G>T	ENSP00000292779:p.Arg586Leu		Q8N9Y9	Missense_Mutation	SNP	NULL	p.R586L	ENST00000292779.3	37	c.1757	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232296	0.39498	.	.	ENSG00000161180	ENST00000292779	T	0.11930	2.73	3.35	-6.71	0.01760	.	4.361770	0.00589	N	0.000349	T	0.10078	0.0247	.	.	.	0.09310	N	1	B	0.19817	0.039	B	0.14578	0.011	T	0.28170	-1.0052	9	0.62326	D	0.03	-0.1315	7.2875	0.26348	0.1802:0.2297:0.5901:0.0	.	586	Q8IYX3-2	.	L	586	ENSP00000292779:R586L	ENSP00000292779:R586L	R	+	2	0	CCDC116	20321274	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.577000	0.00909	-1.752000	0.01325	-0.458000	0.05436	CGT	CCDC116	-	NULL	ENSG00000161180		0.552	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	HGNC	protein_coding	OTTHUMT00000320199.1		0	38	0	G	NM_152612		21991274	1			no_errors	ENST00000292779	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T	T	21991274	G	T	21991274	3	4	39	1	0	0	0	0	1	0	0	0	2760	1145	40	2	1771	2	CCDC116	22	21991274	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09		21991274	29313292	327	9641											
IGLL5	100423062	genome.wustl.edu	37	chr22	23237782	23237782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacctgagcctgacgcccGagcagtggaagtcccacaga	10	5	12	14	2	0	3	0	2	0	1	1	5	1	4	4	1	3	2	4	1	2	1	rs371694135	byFrequency	TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr22:23237782G>A	ENST00000526893.1	+	3	827	c.553G>A	c.(553-555)Gag>Aag	p.E185K	IGLL5_ENST00000531372.1_3'UTR|IGLC1_ENST00000390321.2_RNA|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000532223.2_Missense_Mutation_p.E186K	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	185	C region (By similarity to lambda light- chain).|Ig-like C1-type.					extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CCTGACGCCCGAGCAGTGGAA	0.592													g|||	2	0.000399361	0	0	5008	,	,		13425	0.002		0	False		,,,				2504	0																0								G	LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	65	67	67		553	-5.5	0	22		67	0,8586		0,0,4293	no	missense	IGLL5	NM_001178126.1	56	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	benign	185/215	23237782	1,12989	2202	4293	6495	SO:0001583	missense	0			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.553G>A	22.37:g.23237782G>A	ENSP00000431254:p.Glu185Lys			Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.E186K	ENST00000526893.1	37	c.556	CCDS54506.1	22	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837614	0.32513	2.27E-4	0.0	ENSG00000254709	ENST00000532223;ENST00000526893	T;T	0.00616	6.2;6.2	3.98	-5.47	0.02600	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00496	0.0016	L	0.29908	0.895	0.09310	N	0.999999	B	0.19200	0.034	B	0.16722	0.016	T	0.47368	-0.9123	9	0.66056	D	0.02	.	1.2878	0.02054	0.3747:0.2496:0.2494:0.1263	.	185	B9A064	IGLL5_HUMAN	K	186;185	ENSP00000436353:E186K;ENSP00000431254:E185K	ENSP00000431254:E185K	E	+	1	0	IGLL5	21567782	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.009000	0.01455	-1.051000	0.03226	0.650000	0.86243	GAG	IGLL5	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000254709		0.592	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	IGLL5	HGNC	protein_coding	OTTHUMT00000385699.1	-	0	197	0	G	NM_001178126		23237782	1	tier1	-	no_errors	ENST00000532223	ensembl	human	known	74_37	missense	10.57	110	13	SNP	0.000	A	A	23237782	G	A	23237782	3	1	39	1	0	0	0	0	1	0	0	0	7621	1059	37	1	563	1	IGLL5	22	23237782	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	1246508	23237782	28066784	328	9642											
CRYBB3	1417	genome.wustl.edu	37	chr22	25603066	25603066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccagtacgtgtttgagCggggcgagtaccgccactgg	6	7	17	11	5	0	1	0	1	0	0	0	2	0	1	3	4	3	3	3	4	2	3	rs373833533		TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr22:25603066C>T	ENST00000215855.2	+	6	603	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	175	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						CGTGTTTGAGCGGGGCGAGTA	0.647																																																	0													49	46	47					22																	25603066		2203	4299	6502	SO:0001583	missense	0				CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.523C>T	22.37:g.25603066C>T	ENSP00000215855:p.Arg175Trp		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R175W	ENST00000215855.2	37	c.523	CCDS13830.1	22	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998248	0.74818	.	.	ENSG00000100053	ENST00000215855	T	0.77489	-1.1	4.87	2.52	0.30459	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.498297	0.21676	N	0.070797	D	0.83225	0.5208	M	0.86097	2.795	0.80722	D	1	D	0.58620	0.983	P	0.51999	0.687	D	0.86063	0.1533	10	0.72032	D	0.01	.	11.217	0.48831	0.3527:0.6473:0.0:0.0	.	175	P26998	CRBB3_HUMAN	W	175	ENSP00000215855:R175W	ENSP00000215855:R175W	R	+	1	2	CRYBB3	23933066	0.138000	0.22547	0.982000	0.44146	0.930000	0.56654	0.450000	0.21762	2.223000	0.72356	0.561000	0.74099	CGG	CRYBB3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	ENSG00000100053		0.647	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB3	HGNC	protein_coding	OTTHUMT00000320352.1	-	0	232	0	C	NM_004076		25603066	1	tier1	-	no_errors	ENST00000215855	ensembl	human	known	74_37	missense	44.53	70	57	SNP	0.997	T	T	25603066	C	T	25603066	3	4	39	1	0	0	0	0	1	0	0	0	3919	759	27	1	541	1	CRYBB3	22	25603066	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	2365284	25603066	25701500	329	9643											
SEC14L2	23541	genome.wustl.edu	37	chr22	30812323	30812323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggagatgacagaggtgctgCccaaccagaggtacaactcc	12	5	13	11	0	0	4	0	1	0	3	1	5	1	4	3	3	5	2	3	3	3	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr22:30812323C>T	ENST00000312932.9	+	11	1272	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.P172S|SEC14L2_ENST00000403484.1_Missense_Mutation_p.P264S|SEC14L2_ENST00000402592.3_Missense_Mutation_p.P255S|SEC14L2_ENST00000405717.3_Missense_Mutation_p.P338S	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	338	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	AGAGGTGCTGCCCAACCAGAG	0.542																																																	0													99	101	100					22																	30812323		2203	4300	6503	SO:0001583	missense	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.1012C>T	22.37:g.30812323C>T	ENSP00000316203:p.Pro338Ser		B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.P338S	ENST00000312932.9	37	c.1012	CCDS13876.1	22	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537915	0.45176	.	.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590	ENST00000312932;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.42	-10.2	0.00374	GOLD (2);	0.350521	0.33753	N	0.004592	T	0.41834	0.1176	M	0.73430	2.235	0.37681	D	0.923501	B;B;B;B;B;B	0.26081	0.141;0.001;0.003;0.006;0.002;0.104	B;B;B;B;B;B	0.28139	0.039;0.002;0.004;0.014;0.008;0.086	T	0.33979	-0.9847	10	0.52906	T	0.07	-18.7793	15.9935	0.80223	0.0:0.1573:0.6656:0.177	.	255;255;284;264;338;338	F5H3U4;B7Z8Q1;B7Z3Z8;B3KRD8;O76054;O76054-4	.;.;.;.;S14L2_HUMAN;.	S	338;264;338;255;172	ENSP00000316203:P338S;ENSP00000383993:P264S;ENSP00000385186:P338S;ENSP00000383882:P255S;ENSP00000415178:P172S	ENSP00000415178:P172S	P	+	1	0	RP4-539M6.19;SEC14L2	29142323	0.004000	0.15560	0.065000	0.19835	0.999000	0.98932	0.097000	0.15168	-1.807000	0.01236	0.650000	0.86243	CCC	SEC14L2	-	superfamily_GOLD,pfscan_GOLD	ENSG00000100003		0.542	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4		0	52	0	C	NM_012429		30812323	1			no_errors	ENST00000312932	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.021	T	T	30812323	C	T	30812323	3	4	39	1	0	0	0	0	1	0	0	0	14027	739	26	3	1054	3	SEC14L2	22	30812323	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	5209257	30812323	20492243	330	9644											
LARGE	9215	genome.wustl.edu	37	chr22	33700424	33700424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaactgctgggcctcggcGtctgacaggtagagggccag	8	6	17	10	2	1	2	0	1	1	1	2	3	1	3	2	5	2	2	2	5	2	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr22:33700424G>T	ENST00000354992.2	-	13	2092	c.1521C>A	c.(1519-1521)gaC>gaA	p.D507E	LARGE_ENST00000397394.2_Missense_Mutation_p.D507E|LARGE_ENST00000402320.1_Missense_Mutation_p.D455E|LARGE_ENST00000437602.2_Missense_Mutation_p.D507E|LARGE_ENST00000337431.2_Missense_Mutation_p.D455E|LARGE_ENST00000452586.2_Missense_Mutation_p.D306E	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	507					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GGGCCTCGGCGTCTGACAGGT	0.637																																					Colon(70;397 1175 4573 19089 45288)												0													47	41	43					22																	33700424		2203	4300	6503	SO:0001583	missense	0			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"Glycosyltransferase family 8 domain containing"	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1521C>A	22.37:g.33700424G>T	ENSP00000347088:p.Asp507Glu		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.D507E	ENST00000354992.2	37	c.1521	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496342	0.64186	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.55052	0.97;1.04;0.97;1.04;0.54;2.03	5.27	-7.84	0.01196	.	0.000000	0.85682	D	0.000000	T	0.69396	0.3106	M	0.86864	2.845	0.52501	D	0.999951	D;D;D;D	0.89917	1.0;0.994;0.999;1.0	D;D;D;D	0.97110	1.0;0.925;0.991;1.0	T	0.79132	-0.1929	10	0.62326	D	0.03	0.0913	15.765	0.78120	0.7462:0.0:0.2538:0.0	.	507;306;455;507	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	E	184;184;507;455;507;455;306;507	ENSP00000347088:D507E;ENSP00000336636:D455E;ENSP00000380549:D507E;ENSP00000385223:D455E;ENSP00000407917:D306E;ENSP00000388544:D507E	ENSP00000336636:D455E	D	-	3	2	LARGE	32030424	0.000000	0.05858	0.689000	0.30133	0.771000	0.43674	-1.875000	0.01634	-1.284000	0.02390	-0.751000	0.03497	GAC	LARGE	-	NULL	ENSG00000133424		0.637	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2		0	88	0	G	NM_133642		33700424	-1			no_errors	ENST00000354992	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.467	T	T	33700424	G	T	33700424	3	4	39	1	0	0	0	0	1	0	0	0	8655	1136	40	2	765	2	LARGE	22	33700424	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	2888101	33700424	17604142	331	9645											
FAM83F	113828	genome.wustl.edu	37	chr22	40391301	40391301	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgccaacgcccggggCaagagcaaggccaaggccaa	11	0	13	17	4	0	1	0	0	0	1	0	1	0	1	6	4	2	2	6	4	5	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr22:40391301C>A	ENST00000333407.6	+	1	349	c.255C>A	c.(253-255)ggC>ggA	p.G85G		NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	85										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						ACGCCCGGGGCAAGAGCAAGG	0.756																																																	0													2	3	2					22																	40391301		1308	3039	4347	SO:0001819	synonymous_variant	0				CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.255C>A	22.37:g.40391301C>A			Q96FD6	Silent	SNP	pfam_DUF1669	p.G85	ENST00000333407.6	37	c.255	CCDS14000.2	22																																																																																			FAM83F	-	pfam_DUF1669	ENSG00000133477		0.756	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	HGNC	protein_coding	OTTHUMT00000319624.3	-	0	19	0	C	NM_138435		40391301	1	tier1	-	no_errors	ENST00000333407	ensembl	human	known	74_37	silent	46.67	8	7	SNP	0.682	A	A	40391301	C	A	40391301	2	1	39	1	0	0	0	0	0	0	0	1	5660	697	25	3		3	FAM83F	22	40391301	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	6690877	40391301	10913265	332	9646											
CELSR1	9620	genome.wustl.edu	37	chr22	46787549	46787549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcacagccgagcgtggtGacctcggcaaacgggttgtc	7	8	13	13	4	1	1	1	1	0	0	3	2	1	1	3	3	3	2	3	3	1	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chr22:46787549G>A	ENST00000262738.3	-	15	6128	c.6129C>T	c.(6127-6129)gtC>gtT	p.V2043V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2043	Laminin EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGAGCGTGGTGACCTCGGCAA	0.682																																																	0													32	31	31					22																	46787549		2203	4297	6500	SO:0001819	synonymous_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6129C>T	22.37:g.46787549G>A			O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V2043	ENST00000262738.3	37	c.6129	CCDS14076.1	22																																																																																			CELSR1	-	smart_EGF_laminin,pfscan_EGF_laminin,pfscan_GPCR_2_extracellular_dom	ENSG00000075275		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	-	0	94	0	G	NM_014246		46787549	-1	tier1	-	no_errors	ENST00000262738	ensembl	human	known	74_37	silent	9.43	48	5	SNP	1.000	A	A	46787549	G	A	46787549	2	1	39	1	0	0	0	0	0	0	0	1	3228	1277	45	3		3	CELSR1	22	46787549	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	6396248	46787549	4517017	333	9647											
SHROOM2	357	genome.wustl.edu	37	chrX	9905301	9905301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgccgagccacctgccctgCcccacgggctggagaaagac	8	3	12	18	3	0	2	0	0	0	2	0	4	0	2	7	2	3	1	7	2	1	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:9905301C>T	ENST00000380913.3	+	7	3805	c.3715C>T	c.(3715-3717)Ccc>Tcc	p.P1239S	SHROOM2_ENST00000418909.2_Missense_Mutation_p.P74S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1239					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ACCTGCCCTGCCCCACGGGCT	0.637																																																	0													39	33	35					X																	9905301		2199	4297	6496	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3715C>T	X.37:g.9905301C>T	ENSP00000370299:p.Pro1239Ser		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P1239S	ENST00000380913.3	37	c.3715	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	C	12.60	1.986048	0.35036	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.49432	2.35;1.39;0.78	4.98	4.98	0.66077	.	0.456026	0.24206	N	0.040577	T	0.62865	0.2463	L	0.46157	1.445	0.49483	D	0.999792	B;D	0.89917	0.298;1.0	B;D	0.83275	0.064;0.996	T	0.60919	-0.7167	10	0.36615	T	0.2	-17.0694	17.5018	0.87734	0.0:1.0:0.0:0.0	.	74;1239	Q68DU3;Q13796	.;SHRM2_HUMAN	S	1239;74;74;74	ENSP00000370299:P1239S;ENSP00000415229:P74S;ENSP00000406724:P74S	ENSP00000370299:P1239S	P	+	1	0	SHROOM2	9865301	1.000000	0.71417	0.991000	0.47740	0.422000	0.31414	3.121000	0.50438	2.059000	0.61396	0.594000	0.82650	CCC	SHROOM2	-	NULL	ENSG00000146950		0.637	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	62	0	C	NM_001649		9905301	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	63.33	11	19	SNP	1.000	T	T	9905301	C	T	9905301	3	4	39	1	0	0	0	0	1	0	0	0	14339	739	26	3	3741	3	SHROOM2	23	9905301	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09		9905301	145365259	334	9648											
BMX	660	genome.wustl.edu	37	chrX	15549481	15549481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatttatggttagaaatTcgagccaagtgggaatgtac	13	11	12	5	1	0	1	0	0	0	1	1	4	0	2	1	2	3	3	1	2	6	5			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:15549481T>A	ENST00000357607.2	+	11	1158	c.970T>A	c.(970-972)Tcg>Acg	p.S324T	BMX_ENST00000348343.6_Missense_Mutation_p.S324T|BMX_ENST00000342014.6_Missense_Mutation_p.S324T			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	324	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GGTTAGAAATTCGAGCCAAGT	0.328																																																	0													158	156	157					X																	15549481		2203	4300	6503	SO:0001583	missense	0			AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	1079	protein-coding gene	gene with protein product	"BTK-like on X chromosome"	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.970T>A	X.37:g.15549481T>A	ENSP00000350224:p.Ser324Thr		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif	p.S324T	ENST00000357607.2	37	c.970	CCDS14168.1	X	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578588	0.86645	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.94931	-3.56;-3.56;-3.56	5.56	5.56	0.83823	SH2 motif (5);	0.102779	0.43919	D	0.000506	D	0.96858	0.8974	M	0.89287	3.02	0.44254	D	0.997106	D	0.56968	0.978	P	0.57911	0.829	D	0.97303	0.9932	10	0.87932	D	0	.	12.4963	0.55929	0.0:0.0:0.0:1.0	.	324	P51813	BMX_HUMAN	T	324	ENSP00000350224:S324T;ENSP00000308774:S324T;ENSP00000340082:S324T	ENSP00000340082:S324T	S	+	1	0	BMX	15459402	1.000000	0.71417	0.978000	0.43139	0.868000	0.49771	7.470000	0.80973	1.857000	0.53885	0.486000	0.48141	TCG	BMX	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000102010		0.328	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	BMX	HGNC	protein_coding	OTTHUMT00000055877.1	-	0	41	0	T	NM_001721		15549481	1	tier1	-	no_errors	ENST00000342014	ensembl	human	known	74_37	missense	56.25	21	27	SNP	1.000	A	A	15549481	T	A	15549481	3	1	39	1	0	0	0	0	1	0	0	0	1475	1783	62	5	1008	5	BMX	23	15549481	Missense_Mutation	SNP	T	TCGA-JY-A6FG-01A-11D-A33E-09	5644180	15549481	139721079	335	9649											
DMD	1756	genome.wustl.edu	37	chrX	31676247	31676247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgtctgccactggcggagGtctttggccaactgctatag	6	13	12	10	1	2	0	0	0	2	0	2	1	2	1	2	4	3	1	2	4	3	4			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:31676247G>T	ENST00000357033.4	-	54	8093	c.7887C>A	c.(7885-7887)gaC>gaA	p.D2629E	DMD_ENST00000359836.1_Missense_Mutation_p.D169E|DMD_ENST00000474231.1_Missense_Mutation_p.D169E|DMD_ENST00000378707.3_Missense_Mutation_p.D169E|DMD_ENST00000541735.1_Missense_Mutation_p.D169E|DMD_ENST00000343523.2_Missense_Mutation_p.D169E|DMD_ENST00000378677.2_Missense_Mutation_p.D2625E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2629					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTGGCGGAGGTCTTTGGCCA	0.388																																																	0													80	75	76					X																	31676247		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7887C>A	X.37:g.31676247G>T	ENSP00000354923:p.Asp2629Glu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.D2629E	ENST00000357033.4	37	c.7887	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.452|2.452	-0.326251|-0.326251	0.05350|0.05350	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.26957|.	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7|.	5.29|5.29	2.99|2.99	0.34606|0.34606	.|.	0.201627|.	0.23452|.	U|.	0.048040|.	T|T	0.12944|0.12944	0.0314|0.0314	N|N	0.01576|0.01576	-0.805|-0.805	0.36140|0.36140	D|D	0.846727|0.846727	B;B;B;B;B;B;B;B;B;B|.	0.19583|.	0.037;0.004;0.004;0.005;0.005;0.001;0.001;0.001;0.004;0.001|.	B;B;B;B;B;B;B;B;B;B|.	0.23574|.	0.047;0.01;0.007;0.009;0.009;0.005;0.012;0.012;0.01;0.004|.	T|T	0.20739|0.20739	-1.0266|-1.0266	10|5	0.02654|.	T|.	1|.	.|.	2.3677|2.3677	0.04323|0.04323	0.0931:0.2931:0.2861:0.3277|0.0931:0.2931:0.2861:0.3277	.|.	2621;2629;2625;1288;1285;169;169;169;169;169|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.|.	E|T	2621;1288;1285;325;2625;2629;169;169;2629;2506;169;169;169|358	ENSP00000350765:D325E;ENSP00000367948:D2625E;ENSP00000354923:D2629E;ENSP00000352894:D169E;ENSP00000340057:D169E;ENSP00000367979:D169E;ENSP00000444119:D169E;ENSP00000417123:D169E|.	ENSP00000340057:D169E|.	D|P	-|-	3|1	2|0	DMD|DMD	31586168|31586168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	0.498000|0.498000	0.22530|0.22530	2.212000|2.212000	0.71576|0.71576	0.529000|0.529000	0.55759|0.55759	GAC|CCT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0	24	0	G	NM_004006		31676247	-1			no_errors	ENST00000357033	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	31676247	G	T	31676247	3	4	39	1	0	0	0	0	1	0	0	0	4594	1252	44	3	3422	3	DMD	23	31676247	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	16126766	31676247	123594313	336	9650											
PPP1R3F	89801	genome.wustl.edu	37	chrX	49137873	49137873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgccctgcaggcctGccgaggaggaactgaagacg	8	6	13	14	2	1	2	0	1	1	1	2	5	2	4	4	3	4	1	4	3	2	0			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:49137873G>T	ENST00000055335.6	+	2	1025	c.1009G>T	c.(1009-1011)Gcc>Tcc	p.A337S	PPP1R3F_ENST00000495799.1_5'UTR|PPP1R3F_ENST00000376188.1_5'UTR|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A9S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	337					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGCAGGCCTGCCGAGGAGGA	0.502																																																	0													82	64	70					X																	49137873		2203	4300	6503	SO:0001583	missense	0				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14944	protein-coding gene	gene with protein product			"protein phosphatase 1, regulatory (inhibitor) subunit 3F"			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1009G>T	X.37:g.49137873G>T	ENSP00000055335:p.Ala337Ser		A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.A337S	ENST00000055335.6	37	c.1009	CCDS35254.1	X	.	.	.	.	.	.	.	.	.	.	G	3.039	-0.197949	0.06219	.	.	ENSG00000049769	ENST00000438316;ENST00000055335	T;T	0.55588	0.93;0.51	4.46	-8.91	0.00778	.	2.773100	0.01223	N	0.008159	T	0.20659	0.0497	N	0.03608	-0.345	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.16722	0.016;0.004	T	0.21690	-1.0238	10	0.08179	T	0.78	21.989	3.8698	0.09031	0.3507:0.4462:0.1093:0.0938	.	9;337	F5H262;Q6ZSY5	.;PPR3F_HUMAN	S	9;337	ENSP00000415548:A9S;ENSP00000055335:A337S	ENSP00000055335:A337S	A	+	1	0	PPP1R3F	49024817	0.000000	0.05858	0.001000	0.08648	0.418000	0.31294	-1.864000	0.01650	-2.109000	0.00838	-0.191000	0.12829	GCC	PPP1R3F	-	NULL	ENSG00000049769		0.502	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	-	0	22	0	G	NM_033215		49137873	1	tier1	-	no_errors	ENST00000055335	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	T	T	49137873	G	T	49137873	3	4	39	1	0	0	0	0	1	0	0	0	12417	1319	46	3	1015	3	PPP1R3F	23	49137873	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	17461626	49137873	106132687	337	9651											
ZC3H12B	340554	genome.wustl.edu	37	chrX	64709147	64709147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaaaggtgattcagaaGggcagatcaacttgagtctg	14	8	13	6	0	3	4	2	2	1	2	3	5	3	5	0	3	2	1	0	3	4	2			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:64709147G>T	ENST00000338957.4	+	1	533	c.466G>T	c.(466-468)Ggg>Tgg	p.G156W	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.G145W	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	156							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATTCAGAAGGGCAGATCAA	0.448																																																	0													85	82	83					X																	64709147		1935	4130	6065	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.466G>T	X.37:g.64709147G>T	ENSP00000340839:p.Gly156Trp		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.G156W	ENST00000338957.4	37	c.466	CCDS48131.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.491676|2.491676	0.44249|0.44249	.|.	.|.	ENSG00000102053|ENSG00000102053	ENST00000338957;ENST00000423889|ENST00000218172	T;T|.	0.25085|.	1.82;1.82|.	5.15|5.15	4.29|4.29	0.51040|0.51040	.|.	.|0.514735	.|0.21854	.|N	.|0.068124	T|T	0.24084|0.24084	0.0583|0.0583	N|N	0.24115|0.24115	0.695|0.695	0.23834|0.23834	N|N	0.996713|0.996713	P|.	0.47106|.	0.89|.	B|.	0.43155|.	0.41|.	T|T	0.16808|0.16808	-1.0390|-1.0390	9|7	0.66056|0.19590	D|T	0.02|0.45	-11.8794|-11.8794	7.9818|7.9818	0.30188|0.30188	0.1896:0.0:0.8104:0.0|0.1896:0.0:0.8104:0.0	.|.	145|.	Q5HYM0|.	ZC12B_HUMAN|.	W|N	156;145|103	ENSP00000340839:G156W;ENSP00000408077:G145W|.	ENSP00000340839:G156W|ENSP00000218172:K103N	G|K	+|+	1|3	0|2	ZC3H12B|ZC3H12B	64625872|64625872	0.999000|0.999000	0.42202|0.42202	0.875000|0.875000	0.34327|0.34327	0.959000|0.959000	0.62525|0.62525	2.547000|2.547000	0.45786|0.45786	1.155000|1.155000	0.42497|0.42497	0.506000|0.506000	0.49869|0.49869	GGG|AAG	ZC3H12B	-	NULL	ENSG00000102053		0.448	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2		0	23	0	G	XM_293334		64709147	1			no_errors	ENST00000338957	ensembl	human	known	74_37	missense	12.12	28	4	SNP	0.703	T	T	64709147	G	T	64709147	3	4	39	1	0	0	0	0	1	0	0	0	17610	1000	35	3	468	3	ZC3H12B	23	64709147	Missense_Mutation	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	15571274	64709147	90561413	338	9652											
CXorf26	51260	genome.wustl.edu	37	chrX	75395330	75395330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcatcagttgacccacAgttcctgaaactcaccaaag	13	10	6	12	0	3	2	3	2	0	0	4	3	4	2	3	0	1	2	3	0	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:75395330A>G	ENST00000373358.3	+	4	382	c.179A>G	c.(178-180)cAg>cGg	p.Q60R	PBDC1_ENST00000373357.3_Missense_Mutation_p.Q60R	NM_016500.3	NP_057584.2	Q9BVG4	PBDC1_HUMAN	polysaccharide biosynthesis domain containing 1	60																	GTTGACCCACAGTTCCTGAAA	0.408																																																	0													92	80	84					X																	75395330		2203	4300	6503	SO:0001583	missense	0			BC001220	CCDS14432.1, CCDS75995.1	Xq13.2	2012-11-28	2012-11-28	2012-11-28	ENSG00000102390	ENSG00000102390			28790	protein-coding gene	gene with protein product			"chromosome X open reading frame 26"	CXorf26		11042152	Standard	NM_016500		Approved	MGC874	uc004ecl.1	Q9BVG4	OTTHUMG00000021876	ENST00000373358.3:c.179A>G	X.37:g.75395330A>G	ENSP00000362456:p.Gln60Arg			Missense_Mutation	SNP	pfam_Put_polysacc_synth	p.Q60R	ENST00000373358.3	37	c.179	CCDS14432.1	X	.	.	.	.	.	.	.	.	.	.	A	11.64	1.698388	0.30142	.	.	ENSG00000102390	ENST00000373358;ENST00000373357	.	.	.	4.77	3.52	0.40303	Yst0336-like domain (1);	0.241427	0.41294	D	0.000901	T	0.14184	0.0343	N	0.04669	-0.19	0.26190	N	0.979606	B	0.14805	0.011	B	0.12156	0.007	T	0.05257	-1.0896	9	0.39692	T	0.17	-15.0879	3.0679	0.06220	0.6739:0.0:0.1132:0.213	.	60	Q9BVG4	CX026_HUMAN	R	60	.	ENSP00000362455:Q60R	Q	+	2	0	CXorf26	75311732	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.861000	0.56002	1.875000	0.54330	0.486000	0.48141	CAG	PBDC1	-	pfam_Put_polysacc_synth	ENSG00000102390		0.408	PBDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBDC1	HGNC	protein_coding	OTTHUMT00000057294.1	-	0	35	0	A	NM_016500		75395330	1	tier1	-	no_errors	ENST00000373358	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	75395330	A	G	75395330	3	3	39	1	0	0	0	0	1	0	0	0	4113	188	7	4	193	4	CXorf26	23	75395330	Missense_Mutation	SNP	A	TCGA-JY-A6FG-01A-11D-A33E-09	10686183	75395330	79875230	339	9653											
HDX	139324	genome.wustl.edu	37	chrX	83724053	83724053	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttatatgacctttgaatCccaactggttcaattttaca	11	15	6	9	0	1	2	1	2	0	0	2	2	2	2	2	2	2	2	2	2	6	6			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:83724053C>A	ENST00000297977.5	-	3	789	c.678G>T	c.(676-678)ggG>ggT	p.G226G	HDX_ENST00000506585.2_Silent_p.G168G|HDX_ENST00000373177.2_Silent_p.G226G	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	226						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACCTTTGAATCCCAACTGGTT	0.408																																					Pancreas(53;231 1169 36156 43751 51139)												0													133	116	122					X																	83724053		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.678G>T	X.37:g.83724053C>A			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G226	ENST00000297977.5	37	c.678	CCDS35342.1	X																																																																																			HDX	-	NULL	ENSG00000165259		0.408	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0	19	0	C	NM_144657		83724053	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	silent	82.14	5	23	SNP	0.997	A	A	83724053	C	A	83724053	2	1	39	1	0	0	0	0	0	0	0	1	7053	842	30	3		3	HDX	23	83724053	Silent	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8328723	83724053	71546507	340	9654											
PCDH11X	27328	genome.wustl.edu	37	chrX	91873637	91873637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccctctgctacagccctCctttagcacaggctgctgca	7	9	8	17	0	1	0	0	0	1	0	2	0	2	0	3	1	7	5	3	1	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:91873637C>A	ENST00000373094.1	+	7	4587	c.3742C>A	c.(3742-3744)Cct>Act	p.P1248T	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1238T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1211T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1211T|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1240T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1230T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1248					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTACAGCCCTCCTTTAGCACA	0.572																																					NSCLC(38;925 1092 2571 38200 45895)												0													144	131	135					X																	91873637		2203	4300	6503	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3742C>A	X.37:g.91873637C>A	ENSP00000362186:p.Pro1248Thr		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1248T	ENST00000373094.1	37	c.3742	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	0.229	-1.022822	0.02061	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.52057	0.69;0.7;0.73;0.68;0.7;0.73	3.81	2.9	0.33743	.	.	.	.	.	T	0.27866	0.0686	N	0.11560	0.145	0.18873	N	0.999987	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.004;0.004;0.004;0.002	T	0.17806	-1.0357	9	0.39692	T	0.17	.	9.3175	0.37943	0.2228:0.7772:0.0:0.0	.	1211;1230;1240;1238;1248	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	T	1248;1238;1211;1230;1240;1248;1211	ENSP00000362186:P1248T;ENSP00000362189:P1238T;ENSP00000362180:P1211T;ENSP00000355105:P1230T;ENSP00000384758:P1240T;ENSP00000298274:P1211T	ENSP00000298274:P1211T	P	+	1	0	PCDH11X	91760293	0.000000	0.05858	0.141000	0.22245	0.126000	0.20510	0.133000	0.15912	0.688000	0.31529	0.466000	0.42574	CCT	PCDH11X	-	NULL	ENSG00000102290		0.572	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	43	0	C	NM_032969		91873637	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	66.67	8	16	SNP	0.565	A	A	91873637	C	A	91873637	3	1	39	1	0	0	0	0	1	0	0	0	11547	855	30	3	3890	3	PCDH11X	23	91873637	Missense_Mutation	SNP	C	TCGA-JY-A6FG-01A-11D-A33E-09	8149584	91873637	63396923	341	9655											
TMEM35	59353	genome.wustl.edu	37	chrX	100349693	100349693	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcatgacccttgtgcctggGcgtcccaaagatgtggccaa	8	9	12	12	1	1	2	1	1	0	1	2	2	2	2	4	2	1	0	4	2	2	1			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:100349693G>T	ENST00000372930.4	+	2	535	c.252G>T	c.(250-252)ggG>ggT	p.G84G	TRMT2B-AS1_ENST00000443801.2_RNA|TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	84						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TTGTGCCTGGGCGTCCCAAAG	0.537																																																	0													283	215	238					X																	100349693		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.252G>T	X.37:g.100349693G>T			Q9H7Y3	Silent	SNP	NULL	p.G84	ENST00000372930.4	37	c.252	CCDS14478.1	X																																																																																			TMEM35	-	NULL	ENSG00000126950		0.537	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM35	HGNC	protein_coding	OTTHUMT00000057508.1		0	24	0	G	NM_021637		100349693	1			no_errors	ENST00000372930	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.383	T	T	100349693	G	T	100349693	2	4	39	1	0	0	0	0	0	0	0	1	16204	1190	42	3		3	TMEM35	23	100349693	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8476056	100349693	54920867	342	9656											
GUCY2F	2986	genome.wustl.edu	37	chrX	108641818	108641818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcagaatggggtaccccgGaccatcacttcttgcatgat	10	10	10	11	1	2	2	1	1	1	1	2	3	2	3	3	3	3	3	3	3	2	3			TCGA-JY-A6FG-01A-11D-A33E-09	TCGA-JY-A6FG-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c8cfef47-b2bf-4243-ba74-b5450dd7b169	56632598-9ac5-4421-9af1-e982f8aeeabc	g.chrX:108641818G>A	ENST00000218006.2	-	11	2526	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGGTACCCCGGACCATCACTT	0.542																																																	0													105	86	92					X																	108641818		2203	4300	6503	SO:0001819	synonymous_variant	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.2235C>T	X.37:g.108641818G>A			Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.V745	ENST00000218006.2	37	c.2235	CCDS14545.1	X																																																																																			GUCY2F	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101890		0.542	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	-	0	15	0	G	NM_001522		108641818	-1	tier1	-	no_errors	ENST00000218006	ensembl	human	known	74_37	silent	88.00	3	22	SNP	1.000	A	A	108641818	G	A	108641818	2	1	39	1	0	0	0	0	0	0	0	1	6925	1161	41	3		3	GUCY2F	23	108641818	Silent	SNP	G	TCGA-JY-A6FG-01A-11D-A33E-09	8292125	108641818	46628742	343	9657											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6530819	6530819	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgacggcctccttggcGcgcggctcctcggtcttcct	2	9	13	17	7	1	0	0	0	1	0	5	2	4	0	4	4	0	1	4	4	0	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:6530819G>T	ENST00000400915.3	-	15	1752	c.1686C>A	c.(1684-1686)cgC>cgA	p.R562R	PLEKHG5_ENST00000377732.1_Silent_p.R543R|PLEKHG5_ENST00000377740.3_Silent_p.R583R|PLEKHG5_ENST00000400913.1_Silent_p.R506R|PLEKHG5_ENST00000377748.1_Silent_p.R583R|PLEKHG5_ENST00000340850.5_Silent_p.R506R|PLEKHG5_ENST00000535355.1_Silent_p.R575R|PLEKHG5_ENST00000537245.1_Silent_p.R585R|PLEKHG5_ENST00000377737.2_Silent_p.R506R|PLEKHG5_ENST00000377725.1_Silent_p.R506R|PLEKHG5_ENST00000377728.3_Silent_p.R506R|PLEKHG5_ENST00000544978.1_Silent_p.R506R	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	562	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTCCTTGGCGCGCGGCTCCT	0.667																																																	0													15	14	15					1																	6530819		2187	4264	6451	SO:0001819	synonymous_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1686C>A	1.37:g.6530819G>T			B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R585	ENST00000400915.3	37	c.1755	CCDS41241.1	1																																																																																			PLEKHG5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000171680		0.667	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	-	0	27	0	G	NM_020631		6530819	-1	tier1	-	no_errors	ENST00000537245	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.015	T	T	6530819	G	T	6530819	2	4	40	1	0	0	0	0	0	0	0	1	12112	1074	38	2		2	PLEKHG5	1	6530819	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		6530819	242719802	1	9658											
MTOR	2475	genome.wustl.edu	37	chr1	11206789	11206789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcacagctctataaaatgCcccatcatgggtgtcccgag	11	8	9	13	1	2	0	1	0	1	0	3	1	3	0	3	1	3	2	3	1	3	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:11206789C>T	ENST00000361445.4	-	32	4706	c.4630G>A	c.(4630-4632)Gca>Aca	p.A1544T	MTOR-AS1_ENST00000420480.1_RNA|MTOR_ENST00000495435.1_5'Flank|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1544	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CTATAAAATGCCCCATCATGG	0.488																																																	0													159	147	151					1																	11206789		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4630G>A	1.37:g.11206789C>T	ENSP00000354558:p.Ala1544Thr		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A1544T	ENST00000361445.4	37	c.4630	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.329374	0.95733	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.70164	-0.46	5.86	5.86	0.93980	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.78270	-0.2269	10	0.38643	T	0.18	-19.0721	20.1931	0.98233	0.0:1.0:0.0:0.0	.	1544	P42345	MTOR_HUMAN	T	1544	ENSP00000354558:A1544T	ENSP00000354558:A1544T	A	-	1	0	MTOR	11129376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.456000	0.80751	2.771000	0.95319	0.563000	0.77884	GCA	MTOR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000198793		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	37	0	C	NM_004958		11206789	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	11206789	C	T	11206789	3	4	40	1	0	0	0	0	1	0	0	0	9992	739	26	3	3127	3	MTOR	1	11206789	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	4675970	11206789	238043832	2	9659											
PRAMEF4	400735	genome.wustl.edu	37	chr1	12939505	12939505	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagccctaatttgagcaaAtctgctccagcagagagtac	12	9	8	12	0	2	2	1	1	1	1	3	3	3	2	2	0	5	4	2	0	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:12939505A>C	ENST00000235349.5	-	4	1367	c.1297T>G	c.(1297-1299)Ttt>Gtt	p.F433V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	433					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGAGCAAATCTGCTCCAG	0.512																																																	0													67	78	74					1																	12939505		1487	2641	4128	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1297T>G	1.37:g.12939505A>C	ENSP00000235349:p.Phe433Val		Q5LJB5	Missense_Mutation	SNP	NULL	p.F433V	ENST00000235349.5	37	c.1297	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655466	0.29425	.	.	ENSG00000243073	ENST00000235349	T	0.08984	3.03	1.48	-2.96	0.05547	.	1.028280	0.07737	N	0.946226	T	0.23054	0.0557	M	0.84219	2.685	0.09310	N	1	D	0.69078	0.997	D	0.70716	0.97	T	0.13072	-1.0523	10	0.51188	T	0.08	.	2.7562	0.05293	0.2871:0.0:0.4819:0.231	.	433	O60810	PRAM4_HUMAN	V	433	ENSP00000235349:F433V	ENSP00000235349:F433V	F	-	1	0	PRAMEF4	12862092	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.954000	0.03873	-1.084000	0.03092	0.329000	0.21502	TTT	PRAMEF4	-	NULL	ENSG00000243073		0.512	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	-	0	191	0	A	NM_001009611		12939505	-1	tier1	-	no_errors	ENST00000235349	ensembl	human	known	74_37	missense	46.33	212	183	SNP	0.000	C	C	12939505	A	C	12939505	3	2	40	1	0	0	0	0	1	0	0	0	12479	101	4	4	143	4	PRAMEF4	1	12939505	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	1732716	12939505	236311116	3	9660											
PRAMEF7	441871	genome.wustl.edu	37	chr1	12979871	12979871	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccctgcagaccctggacTtagaggactgtgggatcatg	9	8	12	12	0	1	2	1	0	0	2	1	5	1	5	3	3	1	1	3	3	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:12979871T>G	ENST00000361079.2	+	4	1146	c.1063T>G	c.(1063-1065)Tta>Gta	p.L355V	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	355					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCTGGACTTAGAGGACTG	0.597																																																	0													7	6	7					1																	12979871		1490	3131	4621	SO:0001583	missense	0				CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"-"	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.1063T>G	1.37:g.12979871T>G	ENSP00000354371:p.Leu355Val		B9EIP0	Missense_Mutation	SNP	NULL	p.L355V	ENST00000361079.2	37	c.1063	CCDS30593.1	1	.	.	.	.	.	.	.	.	.	.	.	12.01	1.810710	0.32053	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.02177	4.41;4.41	1.68	1.68	0.24146	.	0.094615	0.42548	D	0.000686	T	0.10465	0.0256	M	0.87971	2.92	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.03193	-1.1062	10	0.66056	D	0.02	.	4.653	0.12605	0.0:0.0:0.3363:0.6636	.	355	Q5VXH5	PRAM7_HUMAN	V	355	ENSP00000354371:L355V;ENSP00000328915:L355V	ENSP00000328915:L355V	L	+	1	2	PRAMEF7	12902458	0.000000	0.05858	0.004000	0.12327	0.076000	0.17211	-0.349000	0.07731	1.023000	0.39654	0.254000	0.18369	TTA	PRAMEF7	-	NULL	ENSG00000204510		0.597	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF7	HGNC	protein_coding		-	0	173	0	T	NM_001012277		12979871	1	tier1	-	no_errors	ENST00000330881	ensembl	human	known	74_37	missense	29.71	219	93	SNP	0.135	G	G	12979871	T	G	12979871	3	3	40	1	0	0	0	0	1	0	0	0	12481	1606	56	4	1073	4	PRAMEF7	1	12979871	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	40366	12979871	236270750	4	9661											
AKR7A2	8574	genome.wustl.edu	37	chr1	19633579	19633579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctcatacttgtacttGccagtcagcaggccccctgc	6	12	8	15	0	2	0	2	0	0	0	3	0	3	0	4	1	5	2	4	1	2	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:19633579G>T	ENST00000235835.3	-	5	726	c.705C>A	c.(703-705)ggC>ggA	p.G235G	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	235					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTTGTACTTGCCAGTCAGCA	0.637																																																	0													86	91	89					1																	19633579		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.705C>A	1.37:g.19633579G>T			O75749|Q5TG63	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.G235	ENST00000235835.3	37	c.705	CCDS194.1	1																																																																																			AKR7A2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000053371		0.637	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	HGNC	protein_coding	OTTHUMT00000007165.2		0	83	0	G	NM_003689		19633579	-1			no_errors	ENST00000235835	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	19633579	G	T	19633579	2	4	40	1	0	0	0	0	0	0	0	1	475	1306	46	3		3	AKR7A2	1	19633579	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	6653708	19633579	229617042	5	9662											
ARID1A	8289	genome.wustl.edu	37	chr1	27099397	27099397	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactccaaaccctgggtatCagcccagtatgaatacctct	11	10	7	13	0	2	2	1	2	1	0	3	2	3	2	4	1	3	2	4	1	5	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:27099397C>T	ENST00000324856.7	+	14	4005	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q829*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1212*|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1212					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1212fs*4(1)|p.Q1212*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTGGGTATCAGCCCAGTAT	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	2	Substitution - Nonsense(1)|Deletion - Frameshift(1)	urinary_tract(1)|ovary(1)											95	95	95					1																	27099397		2203	4300	6503	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3634C>T	1.37:g.27099397C>T	ENSP00000320485:p.Gln1212*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1212*	ENST00000324856.7	37	c.3634	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.669594|9.669594	0.99234|0.99234	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75184	.|0.3815	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72893	.|-0.4154	.|4	0.44086|.	T|.	0.13|.	-6.4258|-6.4258	19.2435|19.2435	0.93893|0.93893	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1212;1212;829|108	.|.	ENSP00000320485:Q1212X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26971984|26971984	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.007000|7.007000	0.76335|0.76335	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	CAG|TCA	ARID1A	-	NULL	ENSG00000117713		0.483	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	21	0	C	NM_139135		27099397	1			no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	1.000	T	T	27099397	C	T	27099397	4	4	40	1	0	0	0	0	0	1	0	0	913	827	29	3	3688	3	ARID1A	1	27099397	Nonsense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	7465818	27099397	222151224	6	9663											
PHC2	1912	genome.wustl.edu	37	chr1	33841079	33841079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgctactggccccgCtggtactgctggtggcacag	5	9	13	14	1	0	0	0	0	0	0	0	0	0	0	2	4	5	6	2	4	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:33841079C>T	ENST00000257118.5	-	1	115	c.62G>A	c.(61-63)aGc>aAc	p.S21N	PHC2_ENST00000419414.2_Missense_Mutation_p.S21N|PHC2_ENST00000431992.1_Missense_Mutation_p.S21N|PHC2_ENST00000373416.1_5'UTR	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	21	Ser-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				actggccccgctggtactgct	0.622																																																	0													51	46	48					1																	33841079		2203	4300	6503	SO:0001583	missense	0			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"Sterile alpha motif (SAM) domain containing"	3183	protein-coding gene	gene with protein product		602979	"early development regulator 2 (homolog of polyhomeotic 2)", "polyhomeotic-like 2 (Drosophila)"	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.62G>A	1.37:g.33841079C>T	ENSP00000257118:p.Ser21Asn		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.S21N	ENST00000257118.5	37	c.62	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975388	0.53720	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.34667	1.72;1.35;1.77	5.39	4.47	0.54385	.	0.429713	0.23123	N	0.051678	T	0.34164	0.0888	L	0.56769	1.78	0.80722	D	1	B;B;B	0.26635	0.155;0.155;0.155	B;B;B	0.20767	0.031;0.031;0.031	T	0.10474	-1.0628	10	0.38643	T	0.18	-5.6501	12.2573	0.54631	0.0:0.8295:0.1705:0.0	.	21;21;21	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	N	21	ENSP00000389436:S21N;ENSP00000257118:S21N;ENSP00000391440:S21N	ENSP00000257118:S21N	S	-	2	0	PHC2	33613666	0.294000	0.24380	0.746000	0.31095	0.970000	0.65996	0.604000	0.24164	1.258000	0.44101	0.462000	0.41574	AGC	PHC2	-	NULL	ENSG00000134686		0.622	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	-	0	32	0	C	NM_198040		33841079	-1	tier1	-	no_errors	ENST00000419414	ensembl	human	known	74_37	missense	34.09	29	15	SNP	0.982	T	T	33841079	C	T	33841079	3	4	40	1	0	0	0	0	1	0	0	0	11856	797	28	3	2570	3	PHC2	1	33841079	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	6741682	33841079	215409542	7	9664											
CSMD2	114784	genome.wustl.edu	37	chr1	34066493	34066493	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatggcgaagatccccccTgtggctgcatcacggtggaa	8	8	13	12	2	1	1	1	0	0	1	2	3	2	2	3	4	1	3	3	4	3	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:34066493T>C	ENST00000373380.1	-	23	3667	c.3447A>G	c.(3445-3447)acA>acG	p.T1149T	CSMD2_ENST00000373381.4_Silent_p.T2276T|CSMD2_ENST00000373388.2_Silent_p.T375T|CSMD2_ENST00000489419.1_5'UTR|CSMD2_ENST00000373377.1_Silent_p.T375T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2278	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATCCCCCCTGTGGCTGCAT	0.592																																																	0													170	151	157					1																	34066493		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.3447A>G	1.37:g.34066493T>C			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2276	ENST00000373380.1	37	c.6828		1																																																																																			CSMD2	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.592	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0	69	0	T	NM_052896		34066493	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.001	C	C	34066493	T	C	34066493	2	2	40	1	0	0	0	0	0	0	0	1	3954	1567	55	4		4	CSMD2	1	34066493	Silent	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	225414	34066493	215184128	8	9665											
ZMYM4	9202	genome.wustl.edu	37	chr1	35859302	35859302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacagactaaagccacctCttgcaaaccacatacccaaa	17	5	3	16	0	1	1	0	0	1	1	1	1	1	1	4	0	4	1	4	0	5	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:35859302C>T	ENST00000314607.6	+	18	2953	c.2873C>T	c.(2872-2874)tCt>tTt	p.S958F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S869F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	958					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCCACCTCTTGCAAACCA	0.398																																																	0													121	109	113					1																	35859302		2203	4300	6503	SO:0001583	missense	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2873C>T	1.37:g.35859302C>T	ENSP00000322915:p.Ser958Phe		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.S958F	ENST00000314607.6	37	c.2873	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824380	0.71143	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.28255	1.64;1.62	5.28	5.28	0.74379	.	0.057040	0.64402	D	0.000001	T	0.41003	0.1140	M	0.67397	2.05	0.51767	D	0.999933	B	0.28998	0.23	B	0.34590	0.186	T	0.36696	-0.9737	10	0.62326	D	0.03	-11.1525	19.2728	0.94018	0.0:1.0:0.0:0.0	.	958	Q5VZL5	ZMYM4_HUMAN	F	958;869	ENSP00000322915:S958F;ENSP00000362394:S869F	ENSP00000322915:S958F	S	+	2	0	ZMYM4	35631889	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.810000	0.55613	2.651000	0.90000	0.585000	0.79938	TCT	ZMYM4	-	NULL	ENSG00000146463		0.398	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	-	0	49	0	C	NM_005095		35859302	1	tier1	-	no_errors	ENST00000314607	ensembl	human	known	74_37	missense	42.48	65	48	SNP	0.988	T	T	35859302	C	T	35859302	3	4	40	1	0	0	0	0	1	0	0	0	17750	913	32	3	2943	3	ZMYM4	1	35859302	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1792809	35859302	213391319	9	9666											
LRRC41	10489	genome.wustl.edu	37	chr1	46751588	46751588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtggcaggtgcagctctgGgcatctgcttggcttcactc	5	11	14	11	0	3	0	1	0	2	0	4	1	3	0	0	4	3	6	0	4	0	2	rs143695685		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:46751588G>A	ENST00000343304.6	-	4	1226	c.941C>T	c.(940-942)cCc>cTc	p.P314L	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	314					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGCAGCTCTGGGCATCTGCTT	0.647													G|||	1	0.000199681	0	0	5008	,	,		13459	0		0.001	False		,,,				2504	0																0								G	LEU/PRO	0,4406		0,0,2203	24	25	25		941	3.1	1	1	dbSNP_134	25	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LRRC41	NM_006369.4	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	314/813	46751588	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.941C>T	1.37:g.46751588G>A	ENSP00000343298:p.Pro314Leu		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P314L	ENST00000343304.6	37	c.941	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	g	7.873	0.728654	0.15507	0.0	1.16E-4	ENSG00000132128	ENST00000343304;ENST00000371972;ENST00000254454	T	0.44083	0.93	4.99	3.08	0.35506	.	0.542496	0.17817	N	0.160990	T	0.25158	0.0611	N	0.14661	0.345	0.23107	N	0.998286	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.19614	-1.0300	10	0.59425	D	0.04	-5.5123	9.1794	0.37131	0.2377:0.0:0.7623:0.0	.	314;292;314	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	L	314;292;143	ENSP00000343298:P314L	ENSP00000254454:P143L	P	-	2	0	LRRC41	46524175	0.454000	0.25728	1.000000	0.80357	0.978000	0.69477	1.876000	0.39588	1.260000	0.44134	0.450000	0.29827	CCC	LRRC41	-	NULL	ENSG00000132128		0.647	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	-	0	53	0	G	NM_006369		46751588	-1	tier1	rs143695685	no_errors	ENST00000343304	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.337	A	A	46751588	G	A	46751588	3	1	40	1	0	0	0	0	1	0	0	0	9034	1232	43	3	1525	3	LRRC41	1	46751588	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	10892286	46751588	202499033	10	9667											
SLC5A9	200010	genome.wustl.edu	37	chr1	48713180	48713180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatgctgtccttttgctgGccatcaacatcttcctctgg	6	15	7	13	0	4	0	2	0	2	0	6	0	6	0	3	2	3	2	3	2	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:48713180G>T	ENST00000438567.2	+	14	2063	c.2011G>T	c.(2011-2013)Gcc>Tcc	p.A671S	SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_Missense_Mutation_p.A696S|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A692S	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	671					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCTTTTGCTGGCCATCAACAT	0.507																																																	0													117	108	111					1																	48713180		2203	4300	6503	SO:0001583	missense	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"Solute carriers"	22146	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 9"				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.2011G>T	1.37:g.48713180G>T	ENSP00000401730:p.Ala671Ser		B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A696S	ENST00000438567.2	37	c.2086	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	9.640	1.138689	0.21123	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495	D;D;D	0.87412	-2.2;-2.19;-2.25	4.91	1.77	0.24775	.	0.310318	0.37761	N	0.001945	T	0.74183	0.3683	L	0.33668	1.02	0.80722	D	1	B;B;B	0.32573	0.376;0.026;0.058	B;B;B	0.32149	0.141;0.008;0.021	T	0.62034	-0.6939	10	0.10377	T	0.69	.	5.5635	0.17157	0.2525:0.0:0.6075:0.14	.	692;671;696	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	S	692;671;696	ENSP00000431900:A692S;ENSP00000401730:A671S;ENSP00000236495:A696S	ENSP00000236495:A696S	A	+	1	0	SLC5A9	48485767	0.759000	0.28416	0.996000	0.52242	0.936000	0.57629	0.322000	0.19576	0.573000	0.29400	0.561000	0.74099	GCC	SLC5A9	-	NULL	ENSG00000117834		0.507	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	-	0	52	0	G	XM_117174		48713180	1	tier1	-	no_errors	ENST00000236495	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.823	T	T	48713180	G	T	48713180	3	4	40	1	0	0	0	0	1	0	0	0	14717	1203	42	3	2144	3	SLC5A9	1	48713180	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1961592	48713180	200537441	11	9668											
C1orf173	127254	genome.wustl.edu	37	chr1	75038176	75038176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcttctctctcagagtcaGttttcctcagagatgttttt	6	18	6	11	0	5	2	3	0	3	2	8	3	6	2	2	0	0	2	2	0	0	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:75038176G>T	ENST00000326665.5	-	14	3436	c.3218C>A	c.(3217-3219)aCt>aAt	p.T1073N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1073	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCAGAGTCAGTTTTCCTCAG	0.413																																																	0													168	176	174					1																	75038176		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.3218C>A	1.37:g.75038176G>T	ENSP00000322609:p.Thr1073Asn		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.T1073N	ENST00000326665.5	37	c.3218	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549288	0.45383	.	.	ENSG00000178965	ENST00000326665	T	0.18657	2.2	5.0	2.96	0.34315	.	.	.	.	.	T	0.07007	0.0178	L	0.40543	1.245	0.09310	N	0.999999	P	0.37955	0.612	B	0.37692	0.256	T	0.23297	-1.0192	9	0.27785	T	0.31	-0.7458	9.1407	0.36901	0.0:0.2976:0.5494:0.153	.	1073	Q5RHP9	CA173_HUMAN	N	1073	ENSP00000322609:T1073N	ENSP00000322609:T1073N	T	-	2	0	C1orf173	74810764	0.000000	0.05858	0.023000	0.16930	0.001000	0.01503	0.237000	0.17985	1.088000	0.41272	-0.305000	0.09177	ACT	C1orf173	-	NULL	ENSG00000178965		0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	33	0	G			75038176	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.038	T	T	75038176	G	T	75038176	3	4	40	1	0	0	0	0	1	0	0	0	2021	1029	36	3	1378	3	C1orf173	1	75038176	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	26324996	75038176	174212445	12	9669											
NEXN	91624	genome.wustl.edu	37	chr1	78383667	78383667	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagaaatgcttgcttctgAtgatgaggaagatgtatctt	13	14	10	4	0	2	5	0	3	2	2	2	6	2	6	0	1	2	3	0	1	5	5	rs367871780		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:78383667A>T	ENST00000334785.7	+	4	426	c.242A>T	c.(241-243)gAt>gTt	p.D81V	NEXN_ENST00000330010.8_Missense_Mutation_p.D17V|NEXN_ENST00000457030.1_Missense_Mutation_p.D81V|NEXN_ENST00000294624.8_Missense_Mutation_p.D81V	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CTTGCTTCTGATGATGAGGAA	0.294																																																	0								A	VAL/ASP,VAL/ASP	3,3621		0,3,1809	101	101	101		50,242	5.7	1	1		101	0,8134		0,0,4067	no	missense,missense	NEXN	NM_001172309.1,NM_144573.3	152,152	0,3,5876	TT,TA,AA		0.0,0.0828,0.0255	probably-damaging,probably-damaging	17/612,81/676	78383667	3,11755	1812	4067	5879	SO:0001583	missense	0			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"Immunoglobulin superfamily / I-set domain containing"	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.242A>T	1.37:g.78383667A>T	ENSP00000333938:p.Asp81Val			Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.D81V	ENST00000334785.7	37	c.242	CCDS41351.1	1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101773	0.76983	8.28E-4	0.0	ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	T;T;T;T;T;T	0.68479	-0.33;-0.05;-0.04;-0.32;-0.07;-0.33	5.66	5.66	0.87406	.	0.000000	0.53938	D	0.000045	T	0.76730	0.4028	M	0.66939	2.045	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;0.997;0.162	D;D;D;B	0.97110	0.999;1.0;0.937;0.11	T	0.79759	-0.1668	10	0.72032	D	0.01	-33.5408	16.168	0.81785	1.0:0.0:0.0:0.0	.	17;81;81;17	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.;.;NEXN_HUMAN;.	V	17;81;17;81;81;81	ENSP00000383814:D17V;ENSP00000388048:D81V;ENSP00000327363:D17V;ENSP00000294624:D81V;ENSP00000333938:D81V;ENSP00000411902:D81V	ENSP00000294624:D81V	D	+	2	0	NEXN	78156255	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.396000	0.90190	2.279000	0.76181	0.528000	0.53228	GAT	NEXN	-	NULL	ENSG00000162614		0.294	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEXN	HGNC	protein_coding	OTTHUMT00000097549.1	-	0	27	0	A	NM_144573		78383667	1	tier1	-	no_errors	ENST00000334785	ensembl	human	known	74_37	missense	38.67	46	29	SNP	1.000	T	T	78383667	A	T	78383667	3	4	40	1	0	0	0	0	1	0	0	0	10394	333	12	5	252	5	NEXN	1	78383667	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	3345491	78383667	170866954	13	9670											
SYDE2	84144	genome.wustl.edu	37	chr1	85648574	85648574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttataacattcctcttaGcagcggtggttgtgttccca	7	14	10	10	1	1	0	0	0	1	0	3	0	3	0	2	3	3	4	2	3	3	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:85648574G>T	ENST00000341460.5	-	3	1800	c.1751C>A	c.(1750-1752)gCt>gAt	p.A584D		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	584					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATTCCTCTTAGCAGCGGTGGT	0.403																																																	0													136	130	132					1																	85648574		1871	4103	5974	SO:0001583	missense	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1751C>A	1.37:g.85648574G>T	ENSP00000340594:p.Ala584Asp		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A584D	ENST00000341460.5	37	c.1751	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096614	0.76870	.	.	ENSG00000097096	ENST00000341460	T	0.09630	2.96	5.28	5.28	0.74379	.	0.107868	0.64402	D	0.000008	T	0.24509	0.0594	M	0.67953	2.075	0.58432	D	0.999997	P;D	0.76494	0.952;0.999	P;D	0.69479	0.731;0.964	T	0.01140	-1.1439	10	0.62326	D	0.03	.	18.9027	0.92449	0.0:0.0:1.0:0.0	.	584;584	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	D	584	ENSP00000340594:A584D	ENSP00000340594:A584D	A	-	2	0	SYDE2	85421162	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.026000	0.93700	2.478000	0.83669	0.650000	0.86243	GCT	SYDE2	-	NULL	ENSG00000097096		0.403	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2		0	40	0	G			85648574	-1			no_errors	ENST00000341460	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	85648574	G	T	85648574	3	4	40	1	0	0	0	0	1	0	0	0	15483	971	34	3	1853	3	SYDE2	1	85648574	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	7264907	85648574	163602047	14	9671											
CHRNB2	1141	genome.wustl.edu	37	chr1	154542074	154542074	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtcactggcccagctCatcagtgtggtgagtagagg	8	10	15	8	0	3	2	3	1	0	1	3	2	3	2	1	4	1	2	1	4	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:154542074C>A	ENST00000368476.3	+	2	465	c.201C>A	c.(199-201)ctC>ctA	p.L67L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	67					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TGGCCCAGCTCATCAGTGTGG	0.547																																																	0													52	50	50					1																	154542074		2203	4300	6503	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.201C>A	1.37:g.154542074C>A			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L67	ENST00000368476.3	37	c.201	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.547	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0	66	0	C	NM_000748		154542074	1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	31.91	64	30	SNP	1.000	A	A	154542074	C	A	154542074	2	1	40	1	0	0	0	0	0	0	0	1	3398	813	29	3		3	CHRNB2	1	154542074	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	68893500	154542074	94708547	15	9672											
CD5L	922	genome.wustl.edu	37	chr1	157804258	157804258	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcccccaaggcccagaAgggcaatcctgaagggttgc	9	8	11	13	0	1	2	0	1	1	1	3	2	3	2	4	3	1	2	4	3	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:157804258A>C	ENST00000368174.4	-	4	753	c.657T>G	c.(655-657)ccT>ccG	p.P219P	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	219	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AAGGCCCAGAAGGGCAATCCT	0.512																																																	0													57	49	52					1																	157804258		2203	4300	6503	SO:0001819	synonymous_variant	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.657T>G	1.37:g.157804258A>C			A8K7M5|Q6UX63	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.P219	ENST00000368174.4	37	c.657	CCDS1171.1	1																																																																																			CD5L	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000073754		0.512	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	-	0	14	0	A	NM_005894		157804258	-1	tier1	-	no_errors	ENST00000368174	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.000	C	C	157804258	A	C	157804258	2	2	40	1	0	0	0	0	0	0	0	1	3034	59	3	4		4	CD5L	1	157804258	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	3262184	157804258	91446363	16	9673											
CD1D	912	genome.wustl.edu	37	chr1	158152065	158152065	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaatttgtcagtggccTccttgagtcagggaagtcgg	7	10	12	12	1	2	1	2	1	0	0	4	2	3	2	4	3	0	0	4	3	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:158152065T>G	ENST00000368171.3	+	4	1071	c.572T>G	c.(571-573)cTc>cGc	p.L191R		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	191	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTCAGTGGCCTCCTTGAGTCA	0.537																																																	0													141	142	141					1																	158152065		2203	4300	6503	SO:0001583	missense	0			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.572T>G	1.37:g.158152065T>G	ENSP00000357153:p.Leu191Arg		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L191R	ENST00000368171.3	37	c.572	CCDS1173.1	1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954459	0.34471	.	.	ENSG00000158473	ENST00000368171	T	0.08458	3.09	4.65	4.65	0.58169	Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.599272	0.14239	N	0.332216	T	0.19248	0.0462	H	0.94183	3.505	0.09310	N	1	D	0.56521	0.976	P	0.54238	0.746	T	0.21075	-1.0256	10	0.72032	D	0.01	-10.2481	10.6035	0.45381	0.0:0.0:0.0:1.0	.	191	P15813	CD1D_HUMAN	R	191	ENSP00000357153:L191R	ENSP00000357153:L191R	L	+	2	0	CD1D	156418689	0.035000	0.19736	0.004000	0.12327	0.025000	0.11179	3.345000	0.52182	2.066000	0.61787	0.528000	0.53228	CTC	CD1D	-	superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom	ENSG00000158473		0.537	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	-	0	62	0	T	NM_001766		158152065	1	tier1	-	no_errors	ENST00000368171	ensembl	human	known	74_37	missense	42.86	36	27	SNP	0.007	G	G	158152065	T	G	158152065	3	3	40	1	0	0	0	0	1	0	0	0	2984	1551	54	4	582	4	CD1D	1	158152065	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	347807	158152065	91098556	17	9674											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576277	158576277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggattttgtcttcctgggcTtctccagttctggggagttg	3	16	14	8	0	3	0	0	0	3	0	5	2	4	2	2	4	0	3	2	4	0	6	rs369776894		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:158576277T>C	ENST00000361284.1	+	1	49	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTTCCTGGGCTTCTCCAGTTC	0.473																																																	0													147	147	147					1																	158576277		2203	4300	6503	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.49T>C	1.37:g.158576277T>C	ENSP00000354707:p.Phe17Leu		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F17L	ENST00000361284.1	37	c.49	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224208	0.39300	.	.	ENSG00000198967	ENST00000361284	T	0.00537	6.72	5.25	5.25	0.73442	.	0.000000	0.41396	D	0.000895	T	0.00271	0.0008	L	0.51853	1.615	0.29146	N	0.878706	B	0.30033	0.266	B	0.26614	0.071	T	0.48736	-0.9009	10	0.30854	T	0.27	.	13.172	0.59604	0.0:0.0:0.0:1.0	.	17	Q8NGY1	O10Z1_HUMAN	L	17	ENSP00000354707:F17L	ENSP00000354707:F17L	F	+	1	0	OR10Z1	156842901	0.952000	0.32445	0.982000	0.44146	0.557000	0.35523	1.739000	0.38217	2.205000	0.71048	0.533000	0.62120	TTC	OR10Z1	-	NULL	ENSG00000198967		0.473	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	20	0	T	NM_001004478		158576277	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	62.07	11	18	SNP	0.994	C	C	158576277	T	C	158576277	3	2	40	1	0	0	0	0	1	0	0	0	10962	1609	56	4	51	4	OR10Z1	1	158576277	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	424212	158576277	90674344	18	9675											
RABGAP1L	9910	genome.wustl.edu	37	chr1	174190247	174190247	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcgtttggagatattccAgccagccaaacaaataagcc	14	9	7	11	1	0	1	0	0	0	1	2	2	1	1	4	1	4	1	4	1	4	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:174190247A>G	ENST00000251507.4	+	3	450	c.276A>G	c.(274-276)ccA>ccG	p.P92P	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Silent_p.P55P	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGATATTCCAGCCAGCCAAA	0.378																																																	0													168	165	166					1																	174190247		2203	4300	6503	SO:0001819	synonymous_variant	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.276A>G	1.37:g.174190247A>G			B7ZAA4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.P92	ENST00000251507.4	37	c.276	CCDS1314.1	1																																																																																			RABGAP1L	-	NULL	ENSG00000152061		0.378	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	-	0	31	0	A	NM_001243765		174190247	1	tier1	-	no_errors	ENST00000251507	ensembl	human	known	74_37	silent	37.93	36	22	SNP	0.762	G	G	174190247	A	G	174190247	2	3	40	1	0	0	0	0	0	0	0	1	13010	175	7	4		4	RABGAP1L	1	174190247	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	15613970	174190247	75060374	19	9676											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564726	176564726	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgaccctgactcaccCaagaggtaagggactgggat	10	9	12	10	0	1	3	1	2	0	1	1	5	1	5	2	3	1	2	2	3	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:176564726C>G	ENST00000367662.3	+	3	3150	c.1986C>G	c.(1984-1986)ccC>ccG	p.P662P	PAPPA2_ENST00000367661.3_Silent_p.P662P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	662	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACTCACCCAAGAGGTAAG	0.498																																																	0													40	44	43					1																	176564726		2135	4241	6376	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1986C>G	1.37:g.176564726C>G			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.P662	ENST00000367662.3	37	c.1986	CCDS41438.1	1																																																																																			PAPPA2	-	NULL	ENSG00000116183		0.498	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	45	0	C			176564726	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	44.68	26	21	SNP	0.972	G	G	176564726	C	G	176564726	2	3	40	1	0	0	0	0	0	0	0	1	11472	581	21	5		5	PAPPA2	1	176564726	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	2374479	176564726	72685895	20	9677											
NR5A2	2494	genome.wustl.edu	37	chr1	200017441	200017441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtctcaggtgatccaagCtatgccctctgacctgacca	9	10	8	14	0	2	3	1	3	2	0	4	3	3	3	4	1	2	1	4	1	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:200017441C>T	ENST00000367362.3	+	5	851	c.605C>T	c.(604-606)gCt>gTt	p.A202V	NR5A2_ENST00000544748.1_Missense_Mutation_p.A130V|NR5A2_ENST00000236914.3_Missense_Mutation_p.A156V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	202					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTGATCCAAGCTATGCCCTCT	0.507																																					Melanoma(179;1138 2773 15678 26136)												0													224	202	210					1																	200017441		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.605C>T	1.37:g.200017441C>T	ENSP00000356331:p.Ala202Val		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A202V	ENST00000367362.3	37	c.605	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895493	0.72639	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	D;D;D	0.94417	-3.38;-3.42;-3.41	5.43	5.43	0.79202	Nuclear hormone receptor, ligand-binding (1);	0.097154	0.64402	D	0.000001	D	0.91958	0.7453	L	0.42245	1.32	0.58432	D	0.999999	B;B	0.11235	0.002;0.004	B;B	0.12156	0.007;0.003	D	0.87504	0.2435	9	.	.	.	.	19.6064	0.95583	0.0:1.0:0.0:0.0	.	156;202	F1D8R9;O00482	.;NR5A2_HUMAN	V	202;156;130;122	ENSP00000356331:A202V;ENSP00000236914:A156V;ENSP00000439116:A130V	.	A	+	2	0	NR5A2	198284064	1.000000	0.71417	0.862000	0.33874	0.988000	0.76386	5.689000	0.68234	2.697000	0.92050	0.563000	0.77884	GCT	NR5A2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.507	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	-	0	43	0	C			200017441	1	tier1	-	no_errors	ENST00000367362	ensembl	human	known	74_37	missense	47.37	40	36	SNP	1.000	T	T	200017441	C	T	200017441	3	4	40	1	0	0	0	0	1	0	0	0	10675	797	28	3	623	3	NR5A2	1	200017441	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	23452715	200017441	49233180	21	9678											
PTPN7	5778	genome.wustl.edu	37	chr1	202119449	202119449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacccacctgtctagccGcagttggcacacaataccca	12	6	7	16	1	1	1	0	0	1	1	1	1	1	1	4	1	2	3	4	1	3	3	rs538790408		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:202119449G>A	ENST00000308986.5	-	9	1109	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	PTPN7_ENST00000309017.3_Missense_Mutation_p.R432W|PTPN7_ENST00000543735.1_Missense_Mutation_p.R156W|PTPN7_ENST00000367279.4_Missense_Mutation_p.R366W|PTPN7_ENST00000544762.1_Missense_Mutation_p.R103W|PTPN7_ENST00000492977.1_5'UTR			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	327	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTGTCTAGCCGCAGTTGGCAC	0.572													G|||	1	0.000199681	0	0	5008	,	,		17941	0		0.001	False		,,,				2504	0																0													78	60	66					1																	202119449		2203	4300	6503	SO:0001583	missense	0			BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.979C>T	1.37:g.202119449G>A	ENSP00000311133:p.Arg327Trp		B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R432W	ENST00000308986.5	37	c.1294		1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011395	0.75046	.	.	ENSG00000143851	ENST00000367279;ENST00000309017;ENST00000308986;ENST00000544762;ENST00000543735;ENST00000477554	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.43	4.49	0.54785	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.53938	D	0.000054	D	0.97923	0.9317	H	0.99726	4.73	0.52501	D	0.999952	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98160	1.0446	10	0.87932	D	0	.	12.7247	0.57164	0.0:0.0:0.7006:0.2994	.	401;275;279;327;366	B4DZD9;B4DVF0;Q8NFX3;P35236;P35236-2	.;.;.;PTN7_HUMAN;.	W	366;432;327;103;156;408	ENSP00000356248:R366W;ENSP00000309116:R432W;ENSP00000311133:R327W;ENSP00000438272:R103W;ENSP00000444624:R156W;ENSP00000418416:R408W	ENSP00000311133:R327W	R	-	1	2	PTPN7	200386072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.686000	0.46968	1.222000	0.43521	0.563000	0.77884	CGG	PTPN7	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000143851		0.572	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	PTPN7	HGNC	protein_coding		-	0	68	0	G	NM_002832		202119449	-1	tier1	-	no_errors	ENST00000309017	ensembl	human	known	74_37	missense	19.44	87	21	SNP	0.998	A	A	202119449	G	A	202119449	3	1	40	1	0	0	0	0	1	0	0	0	12838	1086	38	1	111	1	PTPN7	1	202119449	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2102008	202119449	47131172	22	9679											
HHIPL2	79802	genome.wustl.edu	37	chr1	222717196	222717196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatggaccatggagacGgggttcctcagcccgttggc	7	7	14	13	2	1	1	1	0	0	1	2	3	2	2	4	5	2	3	4	5	0	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:222717196G>A	ENST00000343410.6	-	2	715	c.657C>T	c.(655-657)ccC>ccT	p.P219P		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	219					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CCATGGAGACGGGGTTCCTCA	0.637																																																	0													62	57	59					1																	222717196		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.657C>T	1.37:g.222717196G>A			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.P219	ENST00000343410.6	37	c.657	CCDS1530.2	1																																																																																			HHIPL2	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000143512		0.637	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	-	0	52	0	G	NM_024746		222717196	-1	tier1	-	no_errors	ENST00000343410	ensembl	human	known	74_37	silent	10.77	58	7	SNP	0.007	A	A	222717196	G	A	222717196	2	1	40	1	0	0	0	0	0	0	0	1	7121	1103	39	1		1	HHIPL2	1	222717196	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	20597747	222717196	26533425	23	9680											
ITPKB	3707	genome.wustl.edu	37	chr1	226923246	226923246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accactctaggtttctgctgGtccagggtatgcaggaaggc	8	10	13	10	0	2	0	0	0	2	0	3	1	3	1	2	5	2	4	2	5	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:226923246G>T	ENST00000272117.3	-	1	1913	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	ITPKB_ENST00000429204.1_Missense_Mutation_p.D638E|ITPKB_ENST00000366784.1_Missense_Mutation_p.D638E			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	638					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GTTTCTGCTGGTCCAGGGTAT	0.522																																					Colon(84;110 1851 5306 33547)												0													119	115	116					1																	226923246		2203	4300	6503	SO:0001583	missense	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1914C>A	1.37:g.226923246G>T	ENSP00000272117:p.Asp638Glu		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.D638E	ENST00000272117.3	37	c.1914	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725915	0.48833	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.41065	1.81;1.81;1.01	5.77	3.86	0.44501	.	0.222293	0.46758	N	0.000269	T	0.17280	0.0415	N	0.08118	0	0.32219	N	0.575538	P	0.42409	0.779	B	0.38655	0.278	T	0.14008	-1.0488	10	0.07813	T	0.8	-33.4557	6.7788	0.23634	0.0707:0.1288:0.6674:0.1331	.	638	P27987	IP3KB_HUMAN	E	638	ENSP00000272117:D638E;ENSP00000411152:D638E;ENSP00000355748:D638E	ENSP00000272117:D638E	D	-	3	2	ITPKB	224989869	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.731000	0.38135	1.566000	0.49654	-0.169000	0.13324	GAC	ITPKB	-	NULL	ENSG00000143772		0.522	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0	31	0	G	NM_002221		226923246	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	226923246	G	T	226923246	3	4	40	1	0	0	0	0	1	0	0	0	7945	1252	44	3	954	3	ITPKB	1	226923246	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	4206050	226923246	22327375	24	9681											
SNAP47	116841	genome.wustl.edu	37	chr1	227935805	227935805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccggggcgaggagctgaCgggactcatggctggatccc	7	5	17	12	3	1	1	1	1	0	0	2	6	2	4	2	6	1	2	2	6	0	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:227935805C>T	ENST00000366759.4	+	2	917	c.503C>T	c.(502-504)aCg>aTg	p.T168M	SNAP47_ENST00000366760.1_Intron|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000315781.5_Missense_Mutation_p.T168M	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	168	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GAGGAGCTGACGGGACTCATG	0.637																																																	0													39	39	39					1																	227935805		2203	4300	6503	SO:0001583	missense	0			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.503C>T	1.37:g.227935805C>T	ENSP00000355721:p.Thr168Met		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	pfscan_T_SNARE_dom	p.T168M	ENST00000366759.4	37	c.503	CCDS1562.1	1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169348	0.09339	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.42900	0.96;0.96	4.12	2.21	0.28008	.	0.237089	0.41938	N	0.000783	T	0.22589	0.0545	L	0.40543	1.245	0.26894	N	0.96725	P;P	0.44006	0.824;0.824	B;B	0.28139	0.051;0.086	T	0.15350	-1.0440	10	0.35671	T	0.21	-8.6264	5.6445	0.17582	0.0:0.6433:0.0:0.3567	.	168;168	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	M	168	ENSP00000355721:T168M;ENSP00000314157:T168M	ENSP00000314157:T168M	T	+	2	0	SNAP47	226002428	0.997000	0.39634	0.212000	0.23672	0.001000	0.01503	3.273000	0.51623	0.383000	0.24910	-0.229000	0.12294	ACG	SNAP47	-	NULL	ENSG00000143740		0.637	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091961.1	-	0	54	0	C	NM_053052		227935805	1	tier1	-	no_errors	ENST00000366759	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.806	T	T	227935805	C	T	227935805	3	4	40	1	0	0	0	0	1	0	0	0	14877	536	19	1	509	1	SNAP47	1	227935805	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1012559	227935805	21314816	25	9682											
PRSS38	339501	genome.wustl.edu	37	chr1	228033841	228033841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctcagccagcccctgctCtctctccagctctggggccc	3	9	9	20	0	4	0	1	0	3	0	6	0	4	0	5	2	5	3	5	2	0	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:228033841C>T	ENST00000366757.3	+	5	937	c.913C>T	c.(913-915)Ctc>Ttc	p.L305F		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	305						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCCCTGCTCTCTCTCCAGC	0.542																																																	0													75	73	74					1																	228033841		2203	4300	6503	SO:0001583	missense	0				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"Serine peptidases / Serine peptidases"	29625	protein-coding gene	gene with protein product	"marapsin 2"					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.913C>T	1.37:g.228033841C>T	ENSP00000355719:p.Leu305Phe		Q7RTY6	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L305F	ENST00000366757.3	37	c.913	CCDS1563.1	1	.	.	.	.	.	.	.	.	.	.	C	8.566	0.878925	0.17395	.	.	ENSG00000185888	ENST00000366757	D	0.89123	-2.47	4.73	-3.91	0.04168	.	0.560263	0.13512	N	0.382385	T	0.68522	0.3010	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.60037	-0.7341	10	0.09590	T	0.72	.	5.469	0.16660	0.0:0.217:0.2789:0.5041	.	305	A1L453	PRS38_HUMAN	F	305	ENSP00000355719:L305F	ENSP00000355719:L305F	L	+	1	0	PRSS38	226100464	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.898000	0.01602	-0.464000	0.06963	-0.244000	0.11960	CTC	PRSS38	-	NULL	ENSG00000185888		0.542	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS38	HGNC	protein_coding	OTTHUMT00000091981.1	-	0	43	0	C	NM_183062		228033841	1	tier1	-	no_errors	ENST00000366757	ensembl	human	known	74_37	missense	33.33	44	22	SNP	0.000	T	T	228033841	C	T	228033841	3	4	40	1	0	0	0	0	1	0	0	0	12669	913	32	3	931	3	PRSS38	1	228033841	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	98036	228033841	21216780	26	9683											
NUP133	55746	genome.wustl.edu	37	chr1	229631291	229631291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgactccttctttaatagCttcatagttactttcagatc	9	18	5	9	0	3	2	2	1	1	1	5	2	4	2	1	0	2	3	1	0	4	9			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:229631291C>A	ENST00000261396.3	-	8	1088	c.997G>T	c.(997-999)Gct>Tct	p.A333S	NUP133_ENST00000537506.1_Missense_Mutation_p.A317S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	333					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TCTTTAATAGCTTCATAGTTA	0.318																																																	0													129	121	123					1																	229631291		2201	4299	6500	SO:0001583	missense	0				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"nucleoporin 133kD"			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.997G>T	1.37:g.229631291C>A	ENSP00000261396:p.Ala333Ser		B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.A333S	ENST00000261396.3	37	c.997	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500751	0.26861	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.20598	2.06;2.06;2.06	5.59	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.153861	0.64402	D	0.000018	T	0.15998	0.0385	L	0.36672	1.1	0.33385	D	0.575308	B	0.14012	0.009	B	0.12156	0.007	T	0.15636	-1.0430	10	0.09084	T	0.74	-16.1434	13.5385	0.61659	0.0:0.9251:0.0:0.0749	.	333	Q8WUM0	NU133_HUMAN	S	333;333;333;317	ENSP00000261396:A333S;ENSP00000355640:A333S;ENSP00000443496:A317S	ENSP00000261396:A333S	A	-	1	0	NUP133	227697914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.636000	0.54317	1.362000	0.46000	0.650000	0.86243	GCT	NUP133	-	pfam_Nucleoporin_Nup133/Nup155_N	ENSG00000069248		0.318	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	-	0	18	0	C	NM_018230		229631291	-1	tier1	-	no_errors	ENST00000261396	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A	A	229631291	C	A	229631291	3	1	40	1	0	0	0	0	1	0	0	0	10793	797	28	3	2549	3	NUP133	1	229631291	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1597450	229631291	19619330	27	9684											
PLD5	200150	genome.wustl.edu	37	chr1	242253189	242253189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctttccgcctgtgtcGtctgtggcagttttgttgga	3	16	13	9	2	1	0	0	0	1	0	4	2	3	2	3	3	0	3	3	3	0	4	rs369388309		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:242253189G>A	ENST00000536534.2	-	10	1819	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	PLD5_ENST00000442594.2_Silent_p.D434D|PLD5_ENST00000427495.1_Silent_p.D464D			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	526						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CGCCTGTGTCGTCTGTGGCAG	0.453																																																	0								G	,,	2,4404	4.2+/-10.8	0,2,2201	236	229	231		1392,954,1578	2.5	0	1		231	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PLD5	NM_001195811.1,NM_001195812.1,NM_152666.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	464/475,318/329,526/537	242253189	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1578C>T	1.37:g.242253189G>A			A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	smart_PLipase_D/transphosphatidylase	p.D526	ENST00000536534.2	37	c.1578	CCDS1621.2	1																																																																																			PLD5	-	NULL	ENSG00000180287		0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0	85	0	G	NM_152666		242253189	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	silent	47.78	47	43	SNP	0.001	A	A	242253189	G	A	242253189	2	1	40	1	0	0	0	0	0	0	0	1	12088	1136	40	1		1	PLD5	1	242253189	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	12621898	242253189	6997432	28	9685											
PLD5	200150	genome.wustl.edu	37	chr1	242277295	242277295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggcatctatgtcaaaacTtctgtttttagggcaaaaga	13	13	9	6	0	3	1	1	0	2	1	3	2	3	1	0	2	1	3	0	2	6	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:242277295T>C	ENST00000536534.2	-	7	1208	c.967A>G	c.(967-969)Agt>Ggt	p.S323G	PLD5_ENST00000442594.2_Missense_Mutation_p.S231G|PLD5_ENST00000427495.1_Missense_Mutation_p.S261G			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	323						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.S231R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATGTCAAAACTTCTGTTTTTA	0.408																																																	1	Substitution - Missense(1)	ovary(1)											119	103	108					1																	242277295		2203	4300	6503	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.967A>G	1.37:g.242277295T>C	ENSP00000440896:p.Ser323Gly		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.S323G	ENST00000536534.2	37	c.967	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.740921	0.69304	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.46451	0.88;0.87;0.87	5.21	5.21	0.72293	Phospholipase D/viral envelope (1);	0.086424	0.85682	D	0.000000	T	0.47619	0.1455	L	0.61218	1.895	0.39473	D	0.967766	P;P;P	0.50272	0.933;0.891;0.933	P;P;P	0.51487	0.597;0.671;0.501	T	0.53507	-0.8429	10	0.54805	T	0.06	-17.2208	6.7324	0.23390	0.0:0.1383:0.0:0.8617	.	231;323;261	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	G	261;231;323	ENSP00000401285:S261G;ENSP00000414188:S231G;ENSP00000440896:S323G	ENSP00000401285:S261G	S	-	1	0	PLD5	240343918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.598000	0.61069	1.967000	0.57214	0.523000	0.50628	AGT	PLD5	-	NULL	ENSG00000180287		0.408	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0	37	0	T	NM_152666		242277295	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	missense	41.51	31	22	SNP	1.000	C	C	242277295	T	C	242277295	3	2	40	1	0	0	0	0	1	0	0	0	12088	1609	56	4	659	4	PLD5	1	242277295	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	24106	242277295	6973326	29	9686											
OR2L8	391190	genome.wustl.edu	37	chr1	248112865	248112865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaagggaggaagaaaGcctatttgacctgcagcacc	13	6	12	10	0	0	3	0	1	0	2	0	5	0	5	3	2	4	3	3	2	4	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr1:248112865G>A	ENST00000357191.3	+	1	706	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GAGGAAGAAAGCCTATTTGAC	0.453																																																	0													179	126	144					1																	248112865		2203	4300	6503	SO:0001583	missense	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.706G>A	1.37:g.248112865G>A	ENSP00000349719:p.Ala236Thr		Q6IF03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A236T	ENST00000357191.3	37	c.706	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	8.408	0.843411	0.16963	.	.	ENSG00000196936	ENST00000357191	T	0.00357	7.89	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.276184	0.19148	U	0.121503	T	0.00412	0.0013	M	0.67625	2.065	0.09310	N	1	P	0.46706	0.883	P	0.50162	0.633	T	0.46693	-0.9173	10	0.72032	D	0.01	.	10.6261	0.45508	0.0:0.0:1.0:0.0	.	236	Q8NGY9	OR2L8_HUMAN	T	236	ENSP00000349719:A236T	ENSP00000349719:A236T	A	+	1	0	OR2L8	246179488	0.351000	0.24887	0.045000	0.18777	0.038000	0.13279	1.552000	0.36244	1.010000	0.39314	0.485000	0.47835	GCC	OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196936		0.453	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	-	0	53	0	G			248112865	1	tier1	-	no_errors	ENST00000357191	ensembl	human	known	74_37	missense	43.36	64	49	SNP	0.054	A	A	248112865	G	A	248112865	3	1	40	1	0	0	0	0	1	0	0	0	11048	971	34	3	708	3	OR2L8	1	248112865	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5835570	248112865	1137756	30	9687											
ADCY3	109	genome.wustl.edu	37	chr2	25141535	25141535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaattccagccacggcgaGggaagccagcttgtcgctgg	8	7	13	13	3	0	0	0	0	0	0	3	2	2	1	4	3	3	2	4	3	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:25141535G>T	ENST00000260600.5	-	1	1173	c.322C>A	c.(322-324)Ctc>Atc	p.L108I		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	108					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCACGGCGAGGGAAGCCAGC	0.602																																																	0													99	106	103					2																	25141535		2203	4300	6503	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.322C>A	2.37:g.25141535G>T	ENSP00000260600:p.Leu108Ile		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L108I	ENST00000260600.5	37	c.322	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410894	0.11812	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135;ENST00000438445	T;T;T	0.80909	-1.43;-1.05;0.88	4.59	2.55	0.30701	.	0.643106	0.15179	N	0.276232	T	0.53094	0.1775	N	0.05441	-0.05	0.09310	N	0.999993	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.37820	-0.9689	10	0.09590	T	0.72	.	2.1182	0.03719	0.107:0.1518:0.4294:0.3118	.	108;108	B7ZLX9;O60266	.;ADCY3_HUMAN	I	108;83;108;108	ENSP00000260600:L108I;ENSP00000389799:L108I;ENSP00000406153:L108I	ENSP00000260600:L108I	L	-	1	0	ADCY3	24995039	0.728000	0.28080	0.098000	0.21074	0.342000	0.28953	1.722000	0.38042	2.098000	0.63641	0.563000	0.77884	CTC	ADCY3	-	NULL	ENSG00000138031		0.602	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	-	0	83	0	G			25141535	-1	tier1	-	no_errors	ENST00000260600	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.007	T	T	25141535	G	T	25141535	3	4	40	1	0	0	0	0	1	0	0	0	295	1000	35	3	3196	3	ADCY3	2	25141535	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		25141535	218057838	31	9688											
XDH	7498	genome.wustl.edu	37	chr2	31560560	31560560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcttctccggggtggcagGgctgtctagccggaagagtt	6	10	16	9	2	3	1	0	0	3	1	4	3	3	2	2	5	1	3	2	5	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:31560560G>A	ENST00000379416.3	-	35	3946	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1300					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGGGTGGCAGGGCTGTCTAGC	0.567																																					Colon(66;682 1445 30109 40147)												0													129	113	119					2																	31560560		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3898C>T	2.37:g.31560560G>A	ENSP00000368727:p.Pro1300Ser		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.P1300S	ENST00000379416.3	37	c.3898	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.371238	0.95923	.	.	ENSG00000158125	ENST00000379416	D	0.83419	-1.72	6.08	6.08	0.98989	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.045478	0.85682	D	0.000000	D	0.93259	0.7852	M	0.91717	3.235	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.93684	0.7001	10	0.87932	D	0	.	20.2738	0.98482	0.0:0.0:1.0:0.0	.	1300	P47989	XDH_HUMAN	S	1300	ENSP00000368727:P1300S	ENSP00000368727:P1300S	P	-	1	0	XDH	31414064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.782000	0.99034	2.894000	0.99253	0.655000	0.94253	CCT	XDH	-	superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.567	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1		0	53	0	G	NM_000379		31560560	-1			no_errors	ENST00000379416	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	31560560	G	A	31560560	3	1	40	1	0	0	0	0	1	0	0	0	17475	1232	43	3	111	3	XDH	2	31560560	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	6419025	31560560	211638813	32	9689											
THADA	63892	genome.wustl.edu	37	chr2	43519252	43519252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggggcaaacctttcattgGaagcaatatccatcgtccag	11	10	10	10	1	1	0	1	0	0	0	4	1	3	1	3	3	2	2	3	3	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:43519252G>T	ENST00000405006.4	-	33	5279	c.4928C>A	c.(4927-4929)tCc>tAc	p.S1643Y	THADA_ENST00000405975.2_Missense_Mutation_p.S1643Y|THADA_ENST00000415080.2_Missense_Mutation_p.S1324Y|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1643										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTTTCATTGGAAGCAATATC	0.498																																																	0													49	55	53					2																	43519252		1952	4144	6096	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4928C>A	2.37:g.43519252G>T	ENSP00000385995:p.Ser1643Tyr		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.S1643Y	ENST00000405006.4	37	c.4928	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.069486|4.069486	0.76301|0.76301	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.15834	.|2.62;2.39;2.62	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.425306	.|0.21965	.|N	.|0.066522	T|T	0.30603|0.30603	0.0770|0.0770	L|L	0.34521|0.34521	1.04|1.04	0.32681|0.32681	N|N	0.515445|0.515445	.|D;D	.|0.71674	.|0.998;0.989	.|D;P	.|0.76071	.|0.987;0.726	T|T	0.24657|0.24657	-1.0154|-1.0154	5|10	.|0.54805	.|T	.|0.06	-6.9538|-6.9538	14.6551|14.6551	0.68828|0.68828	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1570;1643	.|B6ZDQ0;Q6YHU6	.|.;THADA_HUMAN	T|Y	883|1643;1570;1324;1643	.|ENSP00000386088:S1643Y;ENSP00000416048:S1324Y;ENSP00000385995:S1643Y	.|ENSP00000349464:S1570Y	P|S	-|-	1|2	0|0	THADA|THADA	43372756|43372756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	4.225000|4.225000	0.58600|0.58600	2.421000|2.421000	0.82119|0.82119	0.644000|0.644000	0.83932|0.83932	CCA|TCC	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.498	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3		0	23	0	G	NM_022065		43519252	-1			no_errors	ENST00000405006	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	43519252	G	T	43519252	3	4	40	1	0	0	0	0	1	0	0	0	15887	1174	41	3	957	3	THADA	2	43519252	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	11958692	43519252	199680121	33	9690											
HSPC159	29094	genome.wustl.edu	37	chr2	64683535	64683535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaaattcttgtatatctgGggagaggggtgaagaacagt	13	10	14	4	0	2	4	0	1	2	3	2	5	2	4	0	4	1	1	0	4	5	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:64683535G>T	ENST00000238875.5	+	4	765	c.311G>T	c.(310-312)gGg>gTg	p.G104V	LGALSL_ENST00000409537.2_Intron|AC008074.3_ENST00000441630.1_RNA	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	104	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										TGTATATCTGGGGAGAGGGGT	0.527																																																	0													172	179	177					2																	64683535		2203	4300	6503	SO:0001583	missense	0			AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"galectin-related protein"					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.311G>T	2.37:g.64683535G>T	ENSP00000238875:p.Gly104Val		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.G104V	ENST00000238875.5	37	c.311	CCDS1877.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615924	0.87359	.	.	ENSG00000119862	ENST00000238875	T	0.08193	3.12	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48246	-0.9052	10	0.87932	D	0	-16.7742	20.0203	0.97492	0.0:0.0:1.0:0.0	.	104	Q3ZCW2	LEGL_HUMAN	V	104	ENSP00000238875:G104V	ENSP00000238875:G104V	G	+	2	0	AC008074.1	64537039	1.000000	0.71417	0.450000	0.26969	0.990000	0.78478	7.370000	0.79589	2.730000	0.93505	0.655000	0.94253	GGG	LGALSL	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000119862		0.527	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALSL	HGNC	protein_coding	OTTHUMT00000251731.2		0	53	0	G	NM_014181		64683535	1			no_errors	ENST00000238875	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	64683535	G	T	64683535	3	4	40	1	0	0	0	0	1	0	0	0	7454	1232	43	3	325	3	HSPC159	2	64683535	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	21164283	64683535	178515838	34	9691											
ADD2	119	genome.wustl.edu	37	chr2	70890714	70890714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttagaggtatcaacatccGtgtcagcactggtggtcatc	9	11	10	11	1	3	1	3	0	0	1	5	1	4	1	2	3	2	2	2	3	3	2	rs374483089		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:70890714G>A	ENST00000264436.4	-	16	2468	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	ADD2_ENST00000407644.2_Missense_Mutation_p.T675M|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	675					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATCAACATCCGTGTCAGCACT	0.572																																																	0								G	MET/THR,MET/THR,	1,4405	2.1+/-5.4	0,1,2202	205	182	190		2024,2024,	5.4	1	2		190	0,8600		0,0,4300	no	missense,missense,utr-3	ADD2	NM_001185054.1,NM_001617.3,NM_017488.3	81,81,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	675/727,675/727,	70890714	1,13005	2203	4300	6503	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.2024C>T	2.37:g.70890714G>A	ENSP00000264436:p.Thr675Met		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T675M	ENST00000264436.4	37	c.2024	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454470	0.43634	2.27E-4	0.0	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320	T;T	0.48201	0.82;0.82	5.44	5.44	0.79542	.	0.295679	0.32671	N	0.005790	T	0.62097	0.2400	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64410	0.925;0.925	T	0.60311	-0.7288	10	0.48119	T	0.1	-9.7495	17.1121	0.86678	0.0:0.0:1.0:0.0	.	675;675	Q05DK5;P35612	.;ADDB_HUMAN	M	675;675;426	ENSP00000264436:T675M;ENSP00000384677:T675M	ENSP00000264436:T675M	T	-	2	0	ADD2	70744222	1.000000	0.71417	0.986000	0.45419	0.015000	0.08874	4.353000	0.59411	2.702000	0.92279	0.655000	0.94253	ACG	ADD2	-	NULL	ENSG00000075340		0.572	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	-	0	38	0	G	NM_001617		70890714	-1	tier1	-	no_errors	ENST00000264436	ensembl	human	known	74_37	missense	52.05	35	38	SNP	0.997	A	A	70890714	G	A	70890714	3	1	40	1	0	0	0	0	1	0	0	0	305	1145	40	1	160	1	ADD2	2	70890714	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	6207179	70890714	172308659	35	9692											
SMYD1	150572	genome.wustl.edu	37	chr2	88387421	88387421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtggagagagaaggcAccgggctcacggagggctgc	8	3	21	9	3	1	2	1	0	0	2	1	5	1	3	1	7	1	3	1	7	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:88387421A>G	ENST00000419482.2	+	3	440	c.355A>G	c.(355-357)Acc>Gcc	p.T119A	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Missense_Mutation_p.T119A|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	119	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GAGAGAAGGCACCGGGCTCAC	0.627																																																	0													56	49	52					2																	88387421		2203	4300	6503	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.355A>G	2.37:g.88387421A>G	ENSP00000393453:p.Thr119Ala		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.T119A	ENST00000419482.2	37	c.355	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	A	8.056	0.767154	0.15983	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	T;T	0.16324	2.35;2.35	4.82	3.63	0.41609	SET domain (2);	0.190454	0.52532	D	0.000074	T	0.08358	0.0208	N	0.12182	0.205	0.80722	D	1	B	0.18013	0.025	B	0.22386	0.039	T	0.17623	-1.0363	10	0.09338	T	0.73	-12.7342	9.0971	0.36645	0.8403:0.0:0.1597:0.0	.	119	Q8NB12	SMYD1_HUMAN	A	119	ENSP00000393453:T119A;ENSP00000407888:T119A	ENSP00000393453:T119A	T	+	1	0	SMYD1	88168536	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.654000	0.46699	0.757000	0.33036	0.459000	0.35465	ACC	SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.627	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2		0	53	0	A	XM_097915		88387421	1			no_errors	ENST00000419482	ensembl	human	known	74_37	missense	8.00	45	4	SNP	1.000	G	G	88387421	A	G	88387421	3	3	40	1	0	0	0	0	1	0	0	0	14866	159	6	4	365	4	SMYD1	2	88387421	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	17496707	88387421	154811952	36	9693											
TMEM131	23505	genome.wustl.edu	37	chr2	98377144	98377144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaactttagcaaagcCattcccacctgtaacaatgg	15	9	7	10	0	0	2	0	1	0	1	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:98377144C>A	ENST00000186436.5	-	38	5248	c.5020G>T	c.(5020-5022)Ggc>Tgc	p.G1674C		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1674						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTAGCAAAGCCATTCCCACCT	0.517																																																	0													99	103	102					2																	98377144		1990	4155	6145	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.5020G>T	2.37:g.98377144C>A	ENSP00000186436:p.Gly1674Cys			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.G1674C	ENST00000186436.5	37	c.5020	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683423	0.88542	.	.	ENSG00000075568	ENST00000186436	T	0.49720	0.77	5.39	5.39	0.77823	.	0.102233	0.64402	D	0.000002	T	0.61160	0.2325	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62751	-0.6788	10	0.62326	D	0.03	-17.3266	19.5205	0.95183	0.0:1.0:0.0:0.0	.	1674;54	Q92545;Q0P631	TM131_HUMAN;.	C	1674	ENSP00000186436:G1674C	ENSP00000186436:G1674C	G	-	1	0	TMEM131	97743576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.679000	0.61649	2.678000	0.91216	0.643000	0.83706	GGC	TMEM131	-	NULL	ENSG00000075568		0.517	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2		0	47	0	C	XM_371542		98377144	-1			no_errors	ENST00000186436	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	98377144	C	A	98377144	3	1	40	1	0	0	0	0	1	0	0	0	16091	594	21	3	647	3	TMEM131	2	98377144	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	9989723	98377144	144822229	37	9694											
TBC1D8	11138	genome.wustl.edu	37	chr2	101654015	101654015	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcgggagtcagggctctgGctgcctgactgctggaaggc	6	9	16	10	1	2	1	1	1	1	0	3	3	2	3	1	5	2	3	1	5	1	1	rs540488034	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:101654015G>A	ENST00000376840.4	-	8	1385	c.1386C>T	c.(1384-1386)agC>agT	p.S462S	TBC1D8_ENST00000409318.1_Silent_p.S477S			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	462					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGGGCTCTGGCTGCCTGACT	0.597													G|||	2	0.000399361	0	0	5008	,	,		16246	0		0	False		,,,				2504	0.002																0													70	77	75					2																	101654015		1972	4144	6116	SO:0001819	synonymous_variant	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1386C>T	2.37:g.101654015G>A			A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S477	ENST00000376840.4	37	c.1431	CCDS46375.1	2																																																																																			TBC1D8	-	NULL	ENSG00000204634		0.597	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1		0	60	0	G	NM_007063		101654015	-1			no_errors	ENST00000409318	ensembl	human	known	74_37	silent	7.58	61	5	SNP	0.140	A	A	101654015	G	A	101654015	2	1	40	1	0	0	0	0	0	0	0	1	15672	1194	42	3		3	TBC1D8	2	101654015	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3276871	101654015	141545358	38	9695											
RGPD3	653489	genome.wustl.edu	37	chr2	107040103	107040103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaacagctaaatgctctacTtttctttctccatctgcaaa	11	14	4	12	1	4	0	0	0	4	0	5	1	4	0	1	0	5	3	1	0	5	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:107040103T>G	ENST00000409886.3	-	20	4407	c.4320A>C	c.(4318-4320)aaA>aaC	p.K1440N	RGPD3_ENST00000304514.7_Missense_Mutation_p.K1440N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1440	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATGCTCTACTTTTCTTTCTC	0.373																																																	0													13	10	11					2																	107040103		688	1563	2251	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4320A>C	2.37:g.107040103T>G	ENSP00000386588:p.Lys1440Asn		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1440N	ENST00000409886.3	37	c.4320	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.10	1.539200	0.27475	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.52057	0.68;0.68	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.63757	0.2538	M	0.80616	2.505	0.24373	N	0.99482	D	0.76494	0.999	D	0.73708	0.981	T	0.51301	-0.8723	9	0.72032	D	0.01	-35.9455	4.1458	0.10215	0.0:0.1765:0.0:0.8235	.	1440	A6NKT7	RGPD3_HUMAN	N	1440	ENSP00000386588:K1440N;ENSP00000303659:K1440N	ENSP00000303659:K1440N	K	-	3	2	RGPD3	106406535	0.172000	0.23043	0.998000	0.56505	0.778000	0.44026	0.275000	0.18698	1.080000	0.41073	0.156000	0.16432	AAA	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0	47	0	T	XM_929931		107040103	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	39.55	81	53	SNP	0.968	G	G	107040103	T	G	107040103	3	3	40	1	0	0	0	0	1	0	0	0	13332	1606	56	4	972	4	RGPD3	2	107040103	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	5386088	107040103	136159270	39	9696											
UGGT1	56886	genome.wustl.edu	37	chr2	128878801	128878801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagactgctgctcgaatCttggcttctcctgttgagtt	5	16	9	11	1	2	2	0	1	2	1	5	3	3	2	2	1	2	5	2	1	1	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:128878801C>G	ENST00000259253.6	+	10	1049	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	RN7SL206P_ENST00000580933.1_RNA|UGGT1_ENST00000375990.3_Missense_Mutation_p.I310M	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	334					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGCTCGAATCTTGGCTTCTC	0.368																																																	0													171	150	157					2																	128878801		2203	4300	6503	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1002C>G	2.37:g.128878801C>G	ENSP00000259253:p.Ile334Met		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.I334M	ENST00000259253.6	37	c.1002	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174301	0.57692	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.50001	0.76;0.76	4.81	3.91	0.45181	.	0.046834	0.85682	D	0.000000	T	0.69133	0.3077	M	0.91406	3.205	0.58432	D	0.999997	D;D	0.65815	0.995;0.992	D;P	0.67382	0.951;0.864	T	0.71800	-0.4483	10	0.87932	D	0	.	6.4326	0.21805	0.1773:0.7013:0.0:0.1213	.	310;334	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	M	310;334	ENSP00000365158:I310M;ENSP00000259253:I334M	ENSP00000259253:I334M	I	+	3	3	UGGT1	128595271	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.931000	0.28871	1.117000	0.41842	0.557000	0.71058	ATC	UGGT1	-	NULL	ENSG00000136731		0.368	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	27	0	C	NM_020120		128878801	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	50.67	37	38	SNP	1.000	G	G	128878801	C	G	128878801	3	3	40	1	0	0	0	0	1	0	0	0	16990	903	32	5	1040	5	UGGT1	2	128878801	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	21838698	128878801	114320572	40	9697											
ARHGEF4	50649	genome.wustl.edu	37	chr2	131798851	131798851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaataaccaccccaacGcctgcgtggagctctcccgg	9	6	9	17	3	1	0	0	0	1	0	2	1	1	1	5	2	5	2	5	2	3	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:131798851G>T	ENST00000326016.5	+	9	1672	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.A385S|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.A325S|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.A314S|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.A385S	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	385	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CCACCCCAACGCCTGCGTGGA	0.577																																																	0													118	111	113					2																	131798851		2203	4300	6503	SO:0001583	missense	0			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	684	protein-coding gene	gene with protein product	"APC-stimulated guanine nucleotide exchange factor"	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.1153G>T	2.37:g.131798851G>T	ENSP00000316845:p.Ala385Ser		Q9HDC6|Q9UPP0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A385S	ENST00000326016.5	37	c.1153	CCDS2165.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.400229|5.400229	0.96030|0.96030	.|.	.|.	ENSG00000136002|ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771|ENST00000532720	T;T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23;-0.23|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57403|0.57403	0.2051|0.2051	L|L	0.33753|0.33753	1.03|1.03	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.995;0.994;0.995|.	D;D;D|.	0.81914|.	0.995;0.991;0.995|.	T|T	0.53380|0.53380	-0.8447|-0.8447	10|5	0.56958|.	D|.	0.05|.	.|.	16.2024|16.2024	0.82095|0.82095	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	325;385;385|.	E9PEM0;Q9NR80-4;Q9NR80|.	.;.;ARHG4_HUMAN|.	S|L	385;385;385;325;314|1	ENSP00000316845:A385S;ENSP00000376680:A385S;ENSP00000432267:A385S;ENSP00000387285:A325S;ENSP00000348017:A314S|.	ENSP00000316845:A385S|.	A|R	+|+	1|2	0|0	ARHGEF4|ARHGEF4	131515321|131515321	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.991000|0.991000	0.79684|0.79684	6.182000|6.182000	0.71995|0.71995	2.415000|2.415000	0.81967|0.81967	0.561000|0.561000	0.74099|0.74099	GCC|CGC	ARHGEF4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000136002		0.577	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4		0	38	0	G			131798851	1			no_errors	ENST00000326016	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	131798851	G	T	131798851	3	4	40	1	0	0	0	0	1	0	0	0	908	1087	38	2	1179	2	ARHGEF4	2	131798851	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2920050	131798851	111400522	41	9698											
NCKAP5	344148	genome.wustl.edu	37	chr2	133540288	133540288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcctcaaaggcaacttacTtgggctcccatgctgactgc	9	10	9	13	0	1	1	1	1	0	0	3	2	3	1	2	2	4	3	2	2	3	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:133540288T>A	ENST00000409261.1	-	14	4469	c.4096A>T	c.(4096-4098)Agt>Tgt	p.S1366C	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1366C|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1366										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCAACTTACTTGGGCTCCCA	0.632																																																	0													47	48	48					2																	133540288		1935	4140	6075	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4096A>T	2.37:g.133540288T>A	ENSP00000387128:p.Ser1366Cys		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.S1366C	ENST00000409261.1	37	c.4096	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.242830	0.58995	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12361	2.69;2.69	5.5	4.36	0.52297	.	0.144113	0.31221	U	0.008028	T	0.10723	0.0262	L	0.32530	0.975	0.80722	D	1	B	0.21606	0.058	B	0.25291	0.059	T	0.09840	-1.0656	10	0.62326	D	0.03	.	6.1211	0.20154	0.1428:0.0755:0.0:0.7817	.	1366	O14513	NCKP5_HUMAN	C	1366	ENSP00000387128:S1366C;ENSP00000380603:S1366C	ENSP00000380603:S1366C	S	-	1	0	NCKAP5	133256758	0.996000	0.38824	0.995000	0.50966	0.961000	0.63080	1.284000	0.33249	1.104000	0.41587	0.533000	0.62120	AGT	NCKAP5	-	NULL	ENSG00000176771		0.632	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	30	0	T	NM_207481		133540288	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.996	A	A	133540288	T	A	133540288	3	1	40	1	0	0	0	0	1	0	0	0	10262	1609	56	5	1661	5	NCKAP5	2	133540288	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	1741437	133540288	109659085	42	9699											
RIF1	55183	genome.wustl.edu	37	chr2	152319844	152319844	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagcaaagcaaagagaaggGactttttcaaaatctgattc	18	9	8	6	0	2	2	1	1	1	1	3	4	2	3	0	1	2	2	0	1	6	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:152319844G>T	ENST00000243326.5	+	29	4293	c.3810G>T	c.(3808-3810)ggG>ggT	p.G1270G	RIF1_ENST00000453091.2_Silent_p.G1270G|RIF1_ENST00000430328.2_Silent_p.G1270G|RIF1_ENST00000444746.2_Silent_p.G1270G|RIF1_ENST00000428287.2_Silent_p.G1270G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAGAGAAGGGACTTTTTCAA	0.358																																																	0													76	85	82					2																	152319844		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3810G>T	2.37:g.152319844G>T			A0AVS0|Q9NS16	Silent	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.G1270	ENST00000243326.5	37	c.3810	CCDS2194.1	2																																																																																			RIF1	-	NULL	ENSG00000080345		0.358	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3		0	23	0	G			152319844	1			no_errors	ENST00000243326	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.000	T	T	152319844	G	T	152319844	2	4	40	1	0	0	0	0	0	0	0	1	13404	1161	41	3		3	RIF1	2	152319844	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	18779556	152319844	90879529	43	9700											
TBR1	10716	genome.wustl.edu	37	chr2	162280635	162280635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgacacgcccgtgtccgAgagttcgtccccgctcaaga	7	6	12	16	6	1	2	1	0	0	2	4	4	3	2	5	1	0	2	5	1	1	1	rs558548201		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:162280635A>G	ENST00000389554.3	+	6	2263	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	AC009487.4_ENST00000437683.1_RNA|AC009487.4_ENST00000444164.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.E362G|AC009487.5_ENST00000505579.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	649					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCGTGTCCGAGAGTTCGTCC	0.637																																																	0													21	25	23					2																	162280635		2203	4299	6502	SO:0001583	missense	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1946A>G	2.37:g.162280635A>G	ENSP00000374205:p.Glu649Gly		B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E649G	ENST00000389554.3	37	c.1946	CCDS33310.1	2	.	.	.	.	.	.	.	.	.	.	A	12.76	2.036025	0.35893	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000410035	D;D	0.91180	-2.8;-2.03	4.22	4.22	0.49857	.	0.251085	0.39615	N	0.001308	T	0.80954	0.4723	N	0.17082	0.46	0.58432	D	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.74979	-0.3479	10	0.31617	T	0.26	.	8.4886	0.33086	0.9119:0.0:0.0881:0.0	.	649	Q16650	TBR1_HUMAN	G	649;318;362	ENSP00000374205:E649G;ENSP00000387023:E362G	ENSP00000374205:E649G	E	+	2	0	TBR1	161988881	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.731000	0.62022	1.894000	0.54839	0.402000	0.26972	GAG	TBR1	-	NULL	ENSG00000136535		0.637	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	-	0	60	0	A	NM_006593		162280635	1	tier1	-	no_errors	ENST00000389554	ensembl	human	known	74_37	missense	43.75	45	35	SNP	1.000	G	G	162280635	A	G	162280635	3	3	40	1	0	0	0	0	1	0	0	0	15694	304	11	4	1968	4	TBR1	2	162280635	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	9960791	162280635	80918738	44	9701											
TTN	7273	genome.wustl.edu	37	chr2	179407890	179407890	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctaaataagtattgttcAccttcatttaaggaagtaac	15	15	5	6	0	3	0	2	0	1	0	3	1	3	1	1	1	1	3	1	1	7	10			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:179407890A>G	ENST00000591111.1	-	297	92111	c.91887T>C	c.(91885-91887)ggT>ggC	p.G30629G	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G23397G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Silent_p.G32270G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.G23330G|TTN_ENST00000342992.6_Silent_p.G29702G|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.G23205G			Q8WZ42	TITIN_HUMAN	titin	30629	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATTGTTCACCTTCATTTA	0.443																																																	0													215	209	211					2																	179407890		1917	4142	6059	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91887T>C	2.37:g.179407890A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G29702	ENST00000591111.1	37	c.89106		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	43	0	A	NM_133378		179407890	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	29.31	41	17	SNP	0.401	G	G	179407890	A	G	179407890	2	3	40	1	0	0	0	0	0	0	0	1	16784	146	6	4		4	TTN	2	179407890	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	17127255	179407890	63791483	45	9702											
TTN	7273	genome.wustl.edu	37	chr2	179583141	179583141	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcctctattgtgctctcaAgaatttccagtatggtagat	11	15	7	8	0	2	2	1	0	2	2	5	2	4	2	2	1	1	3	2	1	6	5	rs373723384		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:179583141A>C	ENST00000591111.1	-	83	23965	c.23741T>G	c.(23740-23742)cTt>cGt	p.L7914R	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L8231R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L6987R|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12105	Ig-like 61.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGCTCTCAAGAATTTCCAG	0.413																																																	0													143	136	138					2																	179583141		1886	4107	5993	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23741T>G	2.37:g.179583141A>C	ENSP00000465570:p.Leu7914Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L6987R	ENST00000591111.1	37	c.20960		2	.	.	.	.	.	.	.	.	.	.	A	5.992	0.367027	0.11352	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	6.16	3.81	0.43845	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57710	0.2072	L	0.48935	1.535	0.19575	N	0.999961	B	0.21381	0.055	B	0.29598	0.104	T	0.54370	-0.8304	9	0.87932	D	0	.	10.6545	0.45667	0.8716:0.0:0.1284:0.0	.	7914	Q8WZ42	TITIN_HUMAN	R	6987	ENSP00000343764:L6987R	ENSP00000343764:L6987R	L	-	2	0	TTN	179291386	0.993000	0.37304	0.951000	0.38953	0.811000	0.45836	3.897000	0.56273	0.565000	0.29255	-0.256000	0.11100	CTT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	24	0	A	NM_133378		179583141	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.040	C	C	179583141	A	C	179583141	3	2	40	1	0	0	0	0	1	0	0	0	16784	72	3	4	79949	4	TTN	2	179583141	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	175251	179583141	63616232	46	9703											
PDE1A	5136	genome.wustl.edu	37	chr2	183051292	183051292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcagaagagaaaatgttgGctctactatgaaatcgatga	15	11	10	5	1	2	4	1	2	1	2	3	6	2	4	0	1	1	2	0	1	6	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:183051292G>T	ENST00000410103.1	-	13	1362	c.1279C>A	c.(1279-1281)Cca>Aca	p.P427T	PDE1A_ENST00000409365.1_Missense_Mutation_p.P411T|PDE1A_ENST00000456212.1_Missense_Mutation_p.P427T|PDE1A_ENST00000346717.4_Missense_Mutation_p.P393T|PDE1A_ENST00000435564.1_Missense_Mutation_p.P427T|PDE1A_ENST00000536095.1_Missense_Mutation_p.P323T|PDE1A_ENST00000351439.5_Missense_Mutation_p.P411T|PDE1A_ENST00000358139.2_Missense_Mutation_p.P427T|PDE1A_ENST00000331935.6_Missense_Mutation_p.P427T	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	427	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GAAAATGTTGGCTCTACTATG	0.358																																																	0													57	59	58					2																	183051292		2203	4300	6503	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1279C>A	2.37:g.183051292G>T	ENSP00000387037:p.Pro427Thr		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.P427T	ENST00000410103.1	37	c.1279	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580825	0.86748	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.57	5.57	0.84162	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	H	0.99415	4.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;0.998	D	0.97404	0.9998	10	0.87932	D	0	.	18.8971	0.92427	0.0:0.0:1.0:0.0	.	323;393;427;411;427	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	T	427;393;323;411;427;411;427;427;427	ENSP00000410309:P427T;ENSP00000329112:P393T;ENSP00000439938:P323T;ENSP00000386767:P411T;ENSP00000331574:P427T;ENSP00000309269:P411T;ENSP00000387037:P427T;ENSP00000350858:P427T;ENSP00000408874:P427T	ENSP00000331574:P427T	P	-	1	0	PDE1A	182759537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.030000	0.93725	2.785000	0.95823	0.655000	0.94253	CCA	PDE1A	-	pfam_PDEase_catalytic_dom	ENSG00000115252		0.358	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1		0	11	0	G			183051292	-1			no_errors	ENST00000456212	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	183051292	G	T	183051292	3	4	40	1	0	0	0	0	1	0	0	0	11672	1203	42	3	418	3	PDE1A	2	183051292	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3468151	183051292	60148081	47	9704											
INO80D	54891	genome.wustl.edu	37	chr2	206869709	206869709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcttccatggggtgaggAgtgtgagtgatcactgctgt	7	12	16	6	0	1	3	1	3	0	0	2	4	2	4	1	4	1	2	1	4	0	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:206869709A>G	ENST00000403263.1	-	11	2871	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	823					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGGGGTGAGGAGTGTGAGTGA	0.532																																																	0													283	269	274					2																	206869709		2151	4269	6420	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2467T>C	2.37:g.206869709A>G	ENSP00000384198:p.Ser823Pro		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.S823P	ENST00000403263.1	37	c.2467	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	A	11.86	1.765936	0.31228	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.43294	0.95	5.91	5.91	0.95273	.	0.167986	0.53938	D	0.000045	T	0.34337	0.0894	L	0.27053	0.805	0.58432	D	0.999994	B	0.27559	0.181	B	0.26864	0.074	T	0.12604	-1.0541	10	0.56958	D	0.05	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	823	Q53TQ3-2	.	P	823	ENSP00000384198:S823P	ENSP00000233270:S823P	S	-	1	0	INO80D	206577954	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.698000	0.68302	2.254000	0.74563	0.533000	0.62120	TCC	INO80D	-	NULL	ENSG00000114933		0.532	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	-	0	29	0	A	NM_017759		206869709	-1	tier1	-	no_errors	ENST00000403263	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	G	G	206869709	A	G	206869709	3	3	40	1	0	0	0	0	1	0	0	0	7776	304	11	4	620	4	INO80D	2	206869709	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	23818417	206869709	36329664	48	9705											
FN1	2335	genome.wustl.edu	37	chr2	216279653	216279653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgactcggagtctcagtGataaatacttcgacaggacc	11	9	11	10	2	1	2	1	2	1	0	4	5	1	4	1	3	1	1	1	3	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:216279653G>T	ENST00000359671.1	-	13	2113	c.1848C>A	c.(1846-1848)atC>atA	p.I616I	FN1_ENST00000443816.1_Silent_p.I616I|FN1_ENST00000426059.1_Silent_p.I616I|FN1_ENST00000356005.4_Silent_p.I616I|FN1_ENST00000354785.4_Silent_p.I616I|FN1_ENST00000323926.6_Silent_p.I616I|FN1_ENST00000336916.4_Silent_p.I616I|FN1_ENST00000432072.2_Silent_p.I616I|FN1_ENST00000346544.3_Silent_p.I616I|FN1_ENST00000357009.2_Silent_p.I616I|FN1_ENST00000421182.1_Silent_p.I616I|FN1_ENST00000357867.4_Silent_p.I616I|FN1_ENST00000446046.1_Silent_p.I616I|FN1_ENST00000345488.5_Silent_p.I616I			P02751	FINC_HUMAN	fibronectin 1	616	Fibronectin type-III 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GAGTCTCAGTGATAAATACTT	0.433																																																	0													82	80	80					2																	216279653		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1848C>A	2.37:g.216279653G>T			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.I616	ENST00000359671.1	37	c.1848		2																																																																																			FN1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.433	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	52	0	G	NM_212476		216279653	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	5.75	82	5	SNP	1.000	T	T	216279653	G	T	216279653	2	4	40	1	0	0	0	0	0	0	0	1	5984	1280	45	3		3	FN1	2	216279653	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	9409944	216279653	26919720	49	9706											
NCL	4691	genome.wustl.edu	37	chr2	232323098	232323098	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaagtgttctcgcatctcGctctagattaaaaaaacaaa	17	10	5	9	2	3	1	0	0	3	1	5	1	3	1	0	0	1	3	0	0	8	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:232323098G>A	ENST00000322723.4	-	8	1408	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	SNORD82_ENST00000365530.1_RNA|SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	390					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTCGCATCTCGCTCTAGATTA	0.408																																																	0													63	62	62					2																	232323098		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1168C>T	2.37:g.232323098G>A	ENSP00000318195:p.Arg390*		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.R390*	ENST00000322723.4	37	c.1168	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.466066	0.98302	.	.	ENSG00000115053	ENST00000322723;ENST00000392033	.	.	.	5.79	4.9	0.64082	.	0.102827	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1406	12.1136	0.53854	0.0:0.0:0.6688:0.3312	.	.	.	.	X	390;282	.	ENSP00000318195:R390X	R	-	1	2	NCL	232031342	1.000000	0.71417	0.968000	0.41197	0.446000	0.32137	4.310000	0.59141	1.445000	0.47624	-0.320000	0.08662	CGA	NCL	-	NULL	ENSG00000115053		0.408	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0	15	0	G	NM_005381		232323098	-1			no_errors	ENST00000322723	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	A	A	232323098	G	A	232323098	4	1	40	1	0	0	0	0	0	1	0	0	10265	1095	38	1	992	1	NCL	2	232323098	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	16043445	232323098	10876275	50	9707											
ECEL1	9427	genome.wustl.edu	37	chr2	233348784	233348784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgccaaagtggcgattgGcctggcccaagcagacccgg	9	5	13	14	2	0	1	0	0	0	1	0	2	0	1	5	4	2	1	5	4	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr2:233348784G>T	ENST00000304546.1	-	7	1544	c.1334C>A	c.(1333-1335)gCc>gAc	p.A445D	ECEL1_ENST00000409941.1_Missense_Mutation_p.A445D	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	445					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTGGCGATTGGCCTGGCCCAA	0.622																																																	0													76	80	79					2																	233348784		2203	4300	6503	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1334C>A	2.37:g.233348784G>T	ENSP00000302051:p.Ala445Asp		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A445D	ENST00000304546.1	37	c.1334	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771640	0.90108	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.74526	-0.85;-0.85	5.33	5.33	0.75918	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.061073	0.64402	D	0.000002	D	0.83115	0.5184	L	0.55481	1.735	0.80722	D	1	D;D	0.63046	0.966;0.992	P;D	0.63283	0.571;0.913	D	0.84714	0.0736	10	0.87932	D	0	-0.9223	19.0163	0.92896	0.0:0.0:1.0:0.0	.	445;445	O95672-2;O95672	.;ECEL1_HUMAN	D	445	ENSP00000302051:A445D;ENSP00000386333:A445D	ENSP00000302051:A445D	A	-	2	0	ECEL1	233057028	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.005000	0.88553	2.503000	0.84419	0.557000	0.71058	GCC	ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2		0	83	0	G	NM_004826		233348784	-1			no_errors	ENST00000304546	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T	T	233348784	G	T	233348784	3	4	40	1	0	0	0	0	1	0	0	0	4905	1203	42	3	1041	3	ECEL1	2	233348784	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1025686	233348784	9850589	51	9708											
OGG1	4968	genome.wustl.edu	37	chr3	9792631	9792631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtgccttgggctcaggtGgagggagcaaagtcctgcac	8	8	15	10	0	1	0	1	0	0	0	2	2	2	2	2	4	3	3	2	4	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:9792631G>T	ENST00000344629.7	+	2	483	c.140G>T	c.(139-141)tGg>tTg	p.W47L	OGG1_ENST00000302008.8_Missense_Mutation_p.W47L|OGG1_ENST00000349503.5_Missense_Mutation_p.W47L|OGG1_ENST00000302003.7_Missense_Mutation_p.W47L|OGG1_ENST00000383826.5_Missense_Mutation_p.W47L|OGG1_ENST00000302036.7_Missense_Mutation_p.W47L|OGG1_ENST00000436092.1_3'UTR|OGG1_ENST00000339511.5_Missense_Mutation_p.W47L|OGG1_ENST00000449570.2_Missense_Mutation_p.W47L			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	47				W -> WW (in Ref. 9; CAA10351). {ECO:0000305}.	acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					GGGCTCAGGTGGAGGGAGCAA	0.522								Base excision repair (BER), DNA glycosylases																																									0													87	71	76					3																	9792631		2203	4300	6503	SO:0001583	missense	0			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.140G>T	3.37:g.9792631G>T	ENSP00000342851:p.Trp47Leu		A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.W47L	ENST00000344629.7	37	c.140	CCDS2581.1	3	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745726	0.89663	.	.	ENSG00000114026	ENST00000302003;ENST00000344629;ENST00000302036;ENST00000349503;ENST00000339511;ENST00000449570;ENST00000302008;ENST00000383826	D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.54	5.54	0.83059	8-oxoguanine DNA glycosylase, N-terminal (1);Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96696	0.9514	10	0.87932	D	0	-12.5856	19.4954	0.95070	0.0:0.0:1.0:0.0	.	47;47;47;47;47;47;47;47	E5KPM8;E5KPM6;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.;.;.;.;.;.;OGG1_HUMAN;.	L	47	ENSP00000305584:W47L;ENSP00000342851:W47L;ENSP00000306561:W47L;ENSP00000303132:W47L;ENSP00000345520:W47L;ENSP00000403598:W47L;ENSP00000305527:W47L;ENSP00000373337:W47L	ENSP00000305584:W47L	W	+	2	0	OGG1	9767631	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	7.969000	0.87988	2.607000	0.88179	0.655000	0.94253	TGG	OGG1	-	pfam_OGG_N,tigrfam_Ogg	ENSG00000114026		0.522	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2	-	0	42	0	G	NM_016821		9792631	1	tier1	-	no_errors	ENST00000302036	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T	T	9792631	G	T	9792631	3	4	40	1	0	0	0	0	1	0	0	0	10884	1357	47	3	146	3	OGG1	3	9792631	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		9792631	188229799	52	9709											
PTH1R	5745	genome.wustl.edu	37	chr3	46944902	46944902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgtcggcccccgtgtggGactcggcctgcccctcagcc	4	7	12	18	3	1	0	1	0	0	0	3	1	1	1	6	3	2	0	6	3	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:46944902G>T	ENST00000313049.5	+	14	1741	c.1538G>T	c.(1537-1539)gGa>gTa	p.G513V	PTH1R_ENST00000449590.1_Missense_Mutation_p.G513V|PTH1R_ENST00000430002.2_Missense_Mutation_p.G513V|PTH1R_ENST00000418619.1_Missense_Mutation_p.G513V			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	513					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CCCCGTGTGGGACTCGGCCTG	0.672																																																	0													49	43	45					3																	46944902		2203	4300	6503	SO:0001583	missense	0				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1538G>T	3.37:g.46944902G>T	ENSP00000321999:p.Gly513Val		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.G513V	ENST00000313049.5	37	c.1538	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638696	0.29157	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063;ENST00000422115	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.1	5.1	0.69264	.	.	.	.	.	T	0.55273	0.1910	L	0.29908	0.895	0.58432	D	0.999993	B	0.27450	0.179	B	0.24269	0.052	T	0.55444	-0.8140	9	0.52906	T	0.07	.	14.37	0.66833	0.0:0.1596:0.8404:0.0	.	513	Q03431	PTH1R_HUMAN	V	513;513;513;513;513;818;102	ENSP00000402723:G513V;ENSP00000411424:G513V;ENSP00000400977:G513V;ENSP00000413774:G513V;ENSP00000321999:G513V;ENSP00000396176:G102V	ENSP00000321999:G513V	G	+	2	0	PTH1R	46919906	0.995000	0.38212	1.000000	0.80357	0.950000	0.60333	3.305000	0.51873	2.814000	0.96858	0.563000	0.77884	GGA	PTH1R	-	prints_GPCR_2_parathyroid_rcpt	ENSG00000160801		0.672	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1		0	53	0	G	NM_000316		46944902	1			no_errors	ENST00000313049	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	46944902	G	T	46944902	3	4	40	1	0	0	0	0	1	0	0	0	12801	1174	41	3	1592	3	PTH1R	3	46944902	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	37152271	46944902	151077528	53	9710											
SMARCC1	6599	genome.wustl.edu	37	chr3	47677562	47677562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgttccttttcactatttTtttcattttctccatcttgt	4	24	2	11	0	4	0	2	0	2	0	6	0	5	0	3	0	0	1	3	0	1	10			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:47677562T>C	ENST00000254480.5	-	23	2560	c.2441A>G	c.(2440-2442)aAa>aGa	p.K814R	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	814	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTCACTATTTTTTTCATTTTC	0.348																																																	0													237	217	224					3																	47677562		2203	4300	6503	SO:0001583	missense	0			U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2441A>G	3.37:g.47677562T>C	ENSP00000254480:p.Lys814Arg		Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.K814R	ENST00000254480.5	37	c.2441	CCDS2758.1	3	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247518	0.39697	.	.	ENSG00000173473	ENST00000254480	T	0.37584	1.19	5.48	5.48	0.80851	.	0.411112	0.30109	N	0.010393	T	0.23330	0.0564	N	0.25094	0.71	0.31970	N	0.60734	B	0.12013	0.005	B	0.15052	0.012	T	0.16719	-1.0393	10	0.33141	T	0.24	-26.7743	8.2399	0.31654	0.0:0.0891:0.0:0.9109	.	814	Q92922	SMRC1_HUMAN	R	814	ENSP00000254480:K814R	ENSP00000254480:K814R	K	-	2	0	SMARCC1	47652566	1.000000	0.71417	0.979000	0.43373	0.995000	0.86356	2.989000	0.49393	2.087000	0.62958	0.454000	0.30748	AAA	SMARCC1	-	NULL	ENSG00000173473		0.348	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCC1	HGNC	protein_coding	OTTHUMT00000257491.1	-	0	36	0	T			47677562	-1	tier1	-	no_errors	ENST00000254480	ensembl	human	known	74_37	missense	44.79	53	43	SNP	0.976	C	C	47677562	T	C	47677562	3	2	40	1	0	0	0	0	1	0	0	0	14820	1841	64	4	900	4	SMARCC1	3	47677562	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	732660	47677562	150344868	54	9711											
TREX1	11277	genome.wustl.edu	37	chr3	48508479	48508479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagagctggctatgctggGcctcaccagtgctctggatg	7	9	14	11	0	2	1	1	0	1	1	2	2	2	2	2	3	4	5	2	3	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:48508479G>T	ENST00000422277.2	+	1	1251	c.590G>T	c.(589-591)gGc>gTc	p.G197V	SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.G142V|TREX1_ENST00000296443.9_Missense_Mutation_p.G142V|TREX1_ENST00000444177.1_Missense_Mutation_p.G132V|TREX1_ENST00000433541.1_Missense_Mutation_p.G3V|TREX1_ENST00000456089.1_Missense_Mutation_p.G3V	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	197					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTATGCTGGGCCTCACCAGT	0.632																																																	0													74	71	72					3																	48508479		2203	4300	6503	SO:0001583	missense	0			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"Aicardi-Goutieres syndrome 1"	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.590G>T	3.37:g.48508479G>T	ENSP00000390478:p.Gly197Val		B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_Exonuclease	p.G197V	ENST00000422277.2	37	c.590	CCDS43086.1	3	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661896	0.67700	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.391980	0.20912	U	0.083450	D	0.97832	0.9288	M	0.80183	2.485	0.47621	D	0.999472	D	0.67145	0.996	D	0.65323	0.934	D	0.98660	1.0683	10	0.87932	D	0	.	15.7784	0.78242	0.0:0.0:1.0:0.0	.	197	Q9NSU2	TREX1_HUMAN	V	142;3;142;197;132;3	ENSP00000296443:G142V;ENSP00000412404:G3V;ENSP00000392569:G142V;ENSP00000390478:G197V;ENSP00000415972:G132V;ENSP00000411331:G3V	ENSP00000296443:G142V	G	+	2	0	TREX1	48483483	1.000000	0.71417	0.946000	0.38457	0.953000	0.61014	3.610000	0.54125	2.301000	0.77427	0.655000	0.94253	GGC	TREX1	-	superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000213689		0.632	TREX1-201	KNOWN	basic|CCDS	protein_coding	TREX1	HGNC	protein_coding			0	16	0	G	NM_016381		48508479	1			no_errors	ENST00000422277	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.989	T	T	48508479	G	T	48508479	3	4	40	1	0	0	0	0	1	0	0	0	16524	1203	42	3	592	3	TREX1	3	48508479	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	830917	48508479	149513951	55	9712											
IP6K2	51447	genome.wustl.edu	37	chr3	48726155	48726155	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcaccgatagcttccGtccatggtacttgttcatga	7	12	9	13	2	1	1	1	1	0	0	3	2	3	1	4	1	3	4	4	1	2	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:48726155G>T	ENST00000328631.5	-	6	1055	c.832C>A	c.(832-834)Cgg>Agg	p.R278R	NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	278					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GATAGCTTCCGTCCATGGTAC	0.567																																																	0													107	98	101					3																	48726155		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"inositol hexaphosphate kinase 2"	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.832C>A	3.37:g.48726155G>T			A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Silent	SNP	pfam_IPK	p.R278	ENST00000328631.5	37	c.832	CCDS2777.1	3																																																																																			IP6K2	-	pfam_IPK	ENSG00000068745		0.567	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2		0	67	0	G	NM_016291		48726155	-1			no_errors	ENST00000328631	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	48726155	G	T	48726155	2	4	40	1	0	0	0	0	0	0	0	1	7816	1144	40	2		2	IP6K2	3	48726155	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	217676	48726155	149296275	56	9713											
STAB1	23166	genome.wustl.edu	37	chr3	52556178	52556178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctggagctgccgggccCgcaacccctgcacagatggc	7	5	14	15	2	0	1	0	0	0	1	0	2	0	2	4	4	4	4	4	4	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:52556178C>T	ENST00000321725.6	+	59	6473	c.6397C>T	c.(6397-6399)Cgc>Tgc	p.R2133C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2133	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCCGGGCCCGCAACCCCTG	0.657																																																	0													37	44	41					3																	52556178		2201	4300	6501	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6397C>T	3.37:g.52556178C>T	ENSP00000312946:p.Arg2133Cys		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R2133C	ENST00000321725.6	37	c.6397	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216057	0.39201	.	.	ENSG00000010327	ENST00000321725	D	0.85556	-2.0	5.63	4.75	0.60458	Epidermal growth factor-like, type 3 (1);	0.113858	0.49916	D	0.000125	D	0.90665	0.7072	M	0.76328	2.33	0.21020	N	0.999808	D;D	0.89917	0.996;1.0	P;D	0.67382	0.639;0.951	D	0.84204	0.0452	10	0.72032	D	0.01	.	11.581	0.50891	0.3242:0.6757:0.0:0.0	.	20;2133	B3KSK0;Q9NY15	.;STAB1_HUMAN	C	2133	ENSP00000312946:R2133C	ENSP00000312946:R2133C	R	+	1	0	STAB1	52531218	0.998000	0.40836	0.950000	0.38849	0.340000	0.28889	2.377000	0.44300	1.355000	0.45865	-0.335000	0.08231	CGC	STAB1	-	pfscan_EG-like_dom	ENSG00000010327		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	65	0	C	NM_015136		52556178	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	5.30	125	7	SNP	0.206	T	T	52556178	C	T	52556178	3	4	40	1	0	0	0	0	1	0	0	0	15284	652	23	1	6631	1	STAB1	3	52556178	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	3830023	52556178	145466252	57	9714											
CADPS	8618	genome.wustl.edu	37	chr3	62388814	62388814	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtaagtccatccggTccgtcaaccaggtgcagatc	10	8	11	12	2	1	1	1	0	0	1	5	2	4	1	4	2	3	3	4	2	3	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:62388814T>C	ENST00000383710.4	-	29	4173	c.3824A>G	c.(3823-3825)gAc>gGc	p.D1275G	CADPS_ENST00000357948.3_Missense_Mutation_p.D1196G|CADPS_ENST00000283269.9_Missense_Mutation_p.D1236G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1275	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTCCATCCGGTCCGTCAACCA	0.383																																																	0													123	112	116					3																	62388814		2203	4300	6503	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3824A>G	3.37:g.62388814T>C	ENSP00000373215:p.Asp1275Gly		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D1275G	ENST00000383710.4	37	c.3824	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.836834|4.836834	0.91117|0.91117	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.31510|.	1.49;1.49;1.49|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.058985|.	0.64402|.	D|.	0.000002|.	T|T	0.73666|0.73666	0.3616|0.3616	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.52170|.	0.951;0.72;0.799;0.917|.	P;B;B;P|.	0.57057|.	0.812;0.423;0.202;0.622|.	T|T	0.74044|0.74044	-0.3791|-0.3791	10|5	0.87932|.	D|.	0|.	.|.	15.6|15.6	0.76616|0.76616	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1196;1236;1275;1280|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	G|A	1281;1275;1196;1236|267	ENSP00000373215:D1275G;ENSP00000350632:D1196G;ENSP00000283269:D1236G|.	ENSP00000283269:D1236G|.	D|T	-|-	2|1	0|0	CADPS|CADPS	62363854|62363854	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.592000|7.592000	0.82676|0.82676	2.152000|2.152000	0.67230|0.67230	0.460000|0.460000	0.39030|0.39030	GAC|ACC	CADPS	-	NULL	ENSG00000163618		0.383	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0	44	0	T	NM_003716, NM_183393, NM_183394		62388814	-1	tier1	-	no_errors	ENST00000383710	ensembl	human	known	74_37	missense	6.52	86	6	SNP	1.000	C	C	62388814	T	C	62388814	3	2	40	1	0	0	0	0	1	0	0	0	2577	1667	58	4	245	4	CADPS	3	62388814	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	9832636	62388814	135633616	58	9715											
CADPS	8618	genome.wustl.edu	37	chr3	62570860	62570860	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggggaagaaacacttacCcagaatgcttcatgttttga	12	12	10	7	0	1	3	1	1	0	2	1	4	1	4	1	2	3	3	1	2	4	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:62570860C>G	ENST00000383710.4	-	8	1926	c.1577G>C	c.(1576-1578)gGg>gCg	p.G526A	CADPS_ENST00000357948.3_Splice_Site_p.G526A|CADPS_ENST00000283269.9_Splice_Site_p.G526A	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	526	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAACACTTACCCAGAATGCTT	0.398																																																	0													184	169	174					3																	62570860		2203	4300	6503	SO:0001630	splice_region_variant	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1577+1G>C	3.37:g.62570860C>G			A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G526A	ENST00000383710.4	37	c.1577	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.177641	0.94846	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000542833	T;T;T;D	0.88975	0.55;0.54;0.54;-2.45	6.04	6.04	0.98038	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.94994	0.8380	M	0.81942	2.565	0.80722	D	1	D;D;D;D	0.89917	1.0;0.97;0.998;1.0	D;D;D;D	0.97110	1.0;0.975;0.996;1.0	D	0.93917	0.7202	9	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	526;526;526;526	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.;.;CAPS1_HUMAN;.	A	526;526;526;526;21	ENSP00000373215:G526A;ENSP00000350632:G526A;ENSP00000283269:G526A;ENSP00000439528:G21A	.	G	-	2	0	CADPS	62545900	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	GGG	CADPS	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000163618		0.398	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0	43	0	C	NM_003716, NM_183393, NM_183394	Missense_Mutation	62570860	-1	tier1	-	no_errors	ENST00000383710	ensembl	human	known	74_37	missense	31.25	55	25	SNP	1.000	G	G	62570860	C	G	62570860	5	3	40	1	0	0	0	0	0	0	1	0	2577	637	22	5	2649	5	CADPS	3	62570860	Splice_Site	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	182046	62570860	135451570	59	9716											
CNTN3	5067	genome.wustl.edu	37	chr3	74385746	74385746	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgccatgcaggtgtaAgttccagcatcagctttagt	8	15	9	9	0	2	0	1	0	1	0	3	0	3	0	2	1	4	5	2	1	2	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:74385746A>C	ENST00000263665.6	-	11	1455	c.1428T>G	c.(1426-1428)acT>acG	p.T476T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	476	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGCAGGTGTAAGTTCCAGCAT	0.353																																																	0													140	119	126					3																	74385746		2203	4299	6502	SO:0001819	synonymous_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1428T>G	3.37:g.74385746A>C			B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T476	ENST00000263665.6	37	c.1428	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113805		0.353	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	25	0	A	NM_020872		74385746	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	silent	52.78	17	19	SNP	0.046	C	C	74385746	A	C	74385746	2	2	40	1	0	0	0	0	0	0	0	1	3649	59	3	4		4	CNTN3	3	74385746	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	11814886	74385746	123636684	60	9717											
BOC	91653	genome.wustl.edu	37	chr3	112996962	112996962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcacaaattcctctgaCgattggaccatctctggcat	10	11	8	12	1	3	1	1	1	2	0	5	3	4	2	2	3	0	1	2	3	1	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:112996962C>T	ENST00000495514.1	+	10	2264	c.1560C>T	c.(1558-1560)gaC>gaT	p.D520D	BOC_ENST00000273395.4_Silent_p.D521D|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000355385.3_Silent_p.D520D			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	520	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ATTCCTCTGACGATTGGACCA	0.542																																																	0													197	198	198					3																	112996962		2203	4300	6503	SO:0001819	synonymous_variant	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1560C>T	3.37:g.112996962C>T			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D521	ENST00000495514.1	37	c.1563	CCDS2971.1	3																																																																																			BOC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144857		0.542	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	-	0	45	0	C	NM_033254		112996962	1	tier1	-	no_errors	ENST00000273395	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.000	T	T	112996962	C	T	112996962	2	4	40	1	0	0	0	0	0	0	0	1	1483	535	19	1		1	BOC	3	112996962	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	38611216	112996962	85025468	61	9718											
KIAA1407	57577	genome.wustl.edu	37	chr3	113724645	113724645	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccaggctgttgagagggTtcagcacccagggtcttgtg	6	10	15	10	0	2	1	1	1	1	1	2	2	2	1	2	3	2	4	2	3	0	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:113724645T>G	ENST00000295878.3	-	10	1724	c.1578A>C	c.(1576-1578)gaA>gaC	p.E526D	KIAA1407_ENST00000545063.1_Missense_Mutation_p.E357D	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	526										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTTGAGAGGGTTCAGCACCCA	0.542																																																	0													181	181	181					3																	113724645		2203	4300	6503	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1578A>C	3.37:g.113724645T>G	ENSP00000295878:p.Glu526Asp		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.E526D	ENST00000295878.3	37	c.1578	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298974	0.40694	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.49720	1.39;0.77;0.77	5.23	0.286	0.15710	.	0.573860	0.18826	N	0.130135	T	0.48484	0.1502	M	0.67953	2.075	0.09310	N	1	P;P;P	0.49559	0.925;0.925;0.873	P;P;P	0.49597	0.616;0.616;0.461	T	0.43718	-0.9374	10	0.22109	T	0.4	.	9.1775	0.37120	0.0:0.6029:0.0:0.3971	.	513;402;526	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	D	526;357;513	ENSP00000295878:E526D;ENSP00000446381:E357D;ENSP00000418099:E513D	ENSP00000295878:E526D	E	-	3	2	KIAA1407	115207335	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.363000	0.07593	-0.136000	0.11475	-0.242000	0.12053	GAA	KIAA1407	-	NULL	ENSG00000163617		0.542	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0	30	0	T	NM_020817		113724645	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.000	G	G	113724645	T	G	113724645	3	3	40	1	0	0	0	0	1	0	0	0	8256	1722	60	4	1264	4	KIAA1407	3	113724645	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	727683	113724645	84297785	62	9719											
DRD3	1814	genome.wustl.edu	37	chr3	113878649	113878649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatgctggctgtacacatCatgacatccagggtgacaaa	13	8	11	9	0	1	2	1	2	0	0	2	3	2	3	1	3	2	3	1	3	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:113878649C>T	ENST00000460779.1	-	4	625	c.336G>A	c.(334-336)atG>atA	p.M112I	DRD3_ENST00000383673.2_Missense_Mutation_p.M112I|DRD3_ENST00000295881.7_Missense_Mutation_p.M112I|DRD3_ENST00000467632.1_Missense_Mutation_p.M112I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	112					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTGTACACATCATGACATCCA	0.507																																																	0													170	140	150					3																	113878649		2203	4300	6503	SO:0001583	missense	0				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.336G>A	3.37:g.113878649C>T	ENSP00000419402:p.Met112Ile		A1A4V5|Q4VBM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.M112I	ENST00000460779.1	37	c.336	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571650	0.86542	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.58	4.58	0.56647	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.80949	0.4722	M	0.64170	1.965	0.80722	D	1	D;D;D;B	0.61080	0.989;0.989;0.989;0.441	D;D;D;B	0.68039	0.939;0.939;0.955;0.268	T	0.80719	-0.1257	10	0.41790	T	0.15	.	16.2952	0.82767	0.0:1.0:0.0:0.0	.	112;112;112;112	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	112	ENSP00000419402:M112I;ENSP00000420662:M112I;ENSP00000373169:M112I;ENSP00000295881:M112I	ENSP00000281274:M112I	M	-	3	0	DRD3	115361339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.301000	0.78850	2.384000	0.81235	0.555000	0.69702	ATG	DRD3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000151577		0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	-	0	35	0	C	NM_000796.3		113878649	-1	tier1	-	no_errors	ENST00000383673	ensembl	human	known	74_37	missense	20.43	74	19	SNP	1.000	T	T	113878649	C	T	113878649	3	4	40	1	0	0	0	0	1	0	0	0	4772	826	29	3	886	3	DRD3	3	113878649	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	154004	113878649	84143781	63	9720											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119132712	119132712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttttcaggatgaagatGatctggccaatgccctgatc	10	13	10	8	0	2	4	1	3	1	1	3	5	2	5	2	2	1	1	2	2	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:119132712G>A	ENST00000264245.4	+	12	2468	c.1936G>A	c.(1936-1938)Gat>Aat	p.D646N		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	646					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGATGAAGATGATCTGGCCAA	0.473																																					Pancreas(7;176 297 5394 51128 51241)												0													83	82	82					3																	119132712		1954	4156	6110	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1936G>A	3.37:g.119132712G>A	ENSP00000264245:p.Asp646Asn		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D646N	ENST00000264245.4	37	c.1936	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.082276	0.94050	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.10192	2.9	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	T	0.32315	0.0825	M	0.62723	1.935	0.49798	D	0.999827	D	0.89917	1.0	D	0.91635	0.999	T	0.00697	-1.1605	10	0.59425	D	0.04	.	18.043	0.89324	0.0:0.0:1.0:0.0	.	646	Q2M1Z3	RHG31_HUMAN	N	646	ENSP00000264245:D646N	ENSP00000264245:D646N	D	+	1	0	ARHGAP31	120615402	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.986000	0.76200	2.746000	0.94184	0.655000	0.94253	GAT	ARHGAP31	-	NULL	ENSG00000031081		0.473	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	-	0	30	0	G			119132712	1	tier1	-	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	41.54	38	27	SNP	0.999	A	A	119132712	G	A	119132712	3	1	40	1	0	0	0	0	1	0	0	0	880	1290	45	3	1982	3	ARHGAP31	3	119132712	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5254063	119132712	78889718	64	9721											
GOLGB1	2804	genome.wustl.edu	37	chr3	121395812	121395812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcattgagctgggtcctGagaagttctgtctcataaac	9	13	10	9	0	3	2	2	2	2	1	5	3	4	2	1	1	2	2	1	1	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:121395812G>A	ENST00000340645.5	-	17	9215	c.9090C>T	c.(9088-9090)ctC>ctT	p.L3030L	GOLGB1_ENST00000393667.3_Silent_p.L3035L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3030					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTGGGTCCTGAGAAGTTCTG	0.438																																																	0													135	128	131					3																	121395812		2203	4300	6503	SO:0001819	synonymous_variant	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9090C>T	3.37:g.121395812G>A			B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.L3030	ENST00000340645.5	37	c.9090	CCDS3004.1	3																																																																																			GOLGB1	-	NULL	ENSG00000173230		0.438	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	33	0	G	NM_004487		121395812	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	silent	45.21	40	33	SNP	0.986	A	A	121395812	G	A	121395812	2	1	40	1	0	0	0	0	0	0	0	1	6591	1277	45	3		3	GOLGB1	3	121395812	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2263100	121395812	76626618	65	9722											
GATA2	2624	genome.wustl.edu	37	chr3	128204731	128204731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtgtagcaggctgggtgCccatagtagctaggcctggg	6	9	18	8	0	0	0	0	0	0	0	0	0	0	0	2	5	3	5	2	5	4	4	rs191501191	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:128204731C>A	ENST00000341105.2	-	3	1041	c.710G>T	c.(709-711)gGc>gTc	p.G237V	GATA2_ENST00000430265.2_Missense_Mutation_p.G237V|GATA2_ENST00000487848.1_Missense_Mutation_p.G237V	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	237					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGGCTGGGTGCCCATAGTAGC	0.632			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													133	123	126					3																	128204731		2203	4300	6503	SO:0001583	missense	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.710G>T	3.37:g.128204731C>A	ENSP00000345681:p.Gly237Val		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G237V	ENST00000341105.2	37	c.710	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247173	0.39697	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97430	-4.38;-4.37;-4.38	4.54	4.54	0.55810	.	0.402536	0.26935	N	0.021750	D	0.96420	0.8832	M	0.61703	1.905	0.80722	D	1	B;B	0.31859	0.343;0.262	B;B	0.38954	0.286;0.119	D	0.96207	0.9150	10	0.44086	T	0.13	-11.1118	16.8689	0.86036	0.0:1.0:0.0:0.0	.	237;237	P23769-2;P23769	.;GATA2_HUMAN	V	237	ENSP00000345681:G237V;ENSP00000400259:G237V;ENSP00000417074:G237V	ENSP00000345681:G237V	G	-	2	0	GATA2	129687421	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	2.744000	0.47450	2.062000	0.61559	0.484000	0.47621	GGC	GATA2	-	pirsf_TF_GATA-1/2/3	ENSG00000179348		0.632	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	-	0	39	0	C	NM_032638		128204731	-1	tier1	-	no_errors	ENST00000341105	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.990	A	A	128204731	C	A	128204731	3	1	40	1	0	0	0	0	1	0	0	0	6279	739	26	3	748	3	GATA2	3	128204731	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	6808919	128204731	69817699	66	9723											
EPHB1	2047	genome.wustl.edu	37	chr3	134884809	134884809	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcctctttctcacctaGatgattacaagtcagagctg	11	13	7	10	0	3	3	2	1	2	2	4	3	3	3	2	0	3	1	2	0	4	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:134884809G>T	ENST00000398015.3	+	8	1955		c.e8-1		EPHB1_ENST00000493838.1_Splice_Site	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCTCACCTAGATGATTACAA	0.488																																																	0													112	125	121					3																	134884809		2094	4235	6329	SO:0001630	splice_region_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1586-1G>T	3.37:g.134884809G>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Splice_Site	SNP	-	e8-1	ENST00000398015.3	37	c.1586-1	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.087001	0.94100	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2033	0.98269	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHB1	136367499	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.793000	0.99091	2.779000	0.95612	0.655000	0.94253	.	EPHB1	-	-	ENSG00000154928		0.488	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	49	0	G	NM_004441	Intron	134884809	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	splice_site	8.06	57	5	SNP	1.000	T	T	134884809	G	T	134884809	5	4	40	1	0	0	0	0	0	0	1	0	5190	956	33	3	1615	3	EPHB1	3	134884809	Splice_Site	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	6680078	134884809	63137621	67	9724											
SCHIP1	100505385	genome.wustl.edu	37	chr3	159606665	159606665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagtttaaaacccacCgacctgagagacatgactat	18	7	7	9	1	0	4	0	2	0	2	0	6	0	4	3	0	1	1	3	0	6	3	rs138619287		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:159606665C>T	ENST00000460298.1	+	6	1372	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	IQCJ-SCHIP1_ENST00000527095.1_Silent_p.T185T|SCHIP1_ENST00000482804.1_Silent_p.T190T|IQCJ-SCHIP1_ENST00000337808.6_Silent_p.T417T|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.T404T|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.T493T|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.T466T|SCHIP1_ENST00000445224.2_Silent_p.T174T					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TAAAACCCACCGACCTGAGAG	0.403																																																	0													152	140	144					3																	159606665		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.1131C>T	3.37:g.159606665C>T				Silent	SNP	pfam_SCHIP_1	p.T493	ENST00000460298.1	37	c.1479		3																																																																																			IQCJ-SCHIP1	-	pfam_SCHIP_1	ENSG00000250588		0.403	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	IQCJ-SCHIP1	HGNC	protein_coding	OTTHUMT00000352558.2	-	0	24	0	C	NM_001197113		159606665	1	tier1	-	no_errors	ENST00000485419	ensembl	human	known	74_37	silent	48.35	46	44	SNP	0.099	T	T	159606665	C	T	159606665	2	4	40	1	0	0	0	0	0	0	0	1	13949	639	23	1		1	SCHIP1	3	159606665	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	24721856	159606665	38415765	68	9725											
HRG	3273	genome.wustl.edu	37	chr3	186395083	186395083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctcaagttgtcaacatgCcacttttggcacaaatgggg	10	11	10	10	0	2	0	2	0	0	0	2	0	2	0	1	3	3	3	1	3	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:186395083C>A	ENST00000232003.4	+	7	1069	c.989C>A	c.(988-990)gCc>gAc	p.A330D		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	330					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGTCAACATGCCACTTTTGGC	0.502																																																	0													161	146	151					3																	186395083		2203	4300	6503	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"histidine-proline rich glycoprotein", "thrombophilia due to elevated HRG"	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.989C>A	3.37:g.186395083C>A	ENSP00000232003:p.Ala330Asp		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.A330D	ENST00000232003.4	37	c.989	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	C	5.706	0.314811	0.10789	.	.	ENSG00000113905	ENST00000232003	T	0.11821	2.74	4.55	-9.1	0.00714	.	2.248160	0.01656	N	0.024848	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	B	0.23540	0.087	B	0.14578	0.011	T	0.32640	-0.9899	10	0.15066	T	0.55	7.6542	0.8431	0.01154	0.2713:0.1111:0.2522:0.3654	.	330	P04196	HRG_HUMAN	D	330	ENSP00000232003:A330D	ENSP00000232003:A330D	A	+	2	0	HRG	187877777	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.901000	0.04093	-2.970000	0.00286	-1.368000	0.01194	GCC	HRG	-	NULL	ENSG00000113905		0.502	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	-	0	67	0	C	NM_000412		186395083	1	tier1	-	no_errors	ENST00000232003	ensembl	human	known	74_37	missense	40.16	73	49	SNP	0.000	A	A	186395083	C	A	186395083	3	1	40	1	0	0	0	0	1	0	0	0	7381	739	26	3	1015	3	HRG	3	186395083	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	26788418	186395083	11627347	69	9726											
MUC4	4585	genome.wustl.edu	37	chr3	195490953	195490953	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgtagcacagcccacgtgGggccgcctctgctggtacag	7	8	13	13	2	1	0	0	0	1	0	1	0	1	0	3	3	4	4	3	3	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr3:195490953G>T	ENST00000346145.4	-	10	1338	c.1299C>A	c.(1297-1299)ccC>ccA	p.P433P	MUC4_ENST00000475231.1_Silent_p.P4617P|MUC4_ENST00000349607.4_Silent_p.P382P|MUC4_ENST00000463781.3_Silent_p.P4669P	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1426					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCCCACGTGGGGCCGCCTCT	0.672																																																	0													17	15	16					3																	195490953		2201	4298	6499	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1299C>A	3.37:g.195490953G>T			O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P4669	ENST00000346145.4	37	c.14007	CCDS3310.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.672	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1		0	62	0	G	NM_018406		195490953	-1			no_errors	ENST00000463781	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.653	T	T	195490953	G	T	195490953	2	4	40	1	0	0	0	0	0	0	0	1	10016	1219	43	3		3	MUC4	3	195490953	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	9095870	195490953	2531477	70	9727											
ARAP2	116984	genome.wustl.edu	37	chr4	36179500	36179500	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacttaacacagtaaaaatTtttgccttatagcctctcaa	14	13	3	11	0	1	0	1	0	1	0	2	0	1	0	3	0	3	1	3	0	7	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:36179500T>G	ENST00000303965.4	-	9	2295	c.1806A>C	c.(1804-1806)aaA>aaC	p.K602N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	602	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CAGTAAAAATTTTTGCCTTAT	0.363																																																	0													144	143	143					4																	36179500		2203	4300	6503	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1806A>C	4.37:g.36179500T>G	ENSP00000302895:p.Lys602Asn		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.K602N	ENST00000303965.4	37	c.1806	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	19.88	3.908414	0.72868	.	.	ENSG00000047365	ENST00000303965	T	0.37058	1.22	5.33	2.94	0.34122	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.065798	0.64402	D	0.000016	T	0.53769	0.1817	M	0.66297	2.02	0.32799	N	0.5001	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.977	T	0.63844	-0.6545	10	0.87932	D	0	.	8.954	0.35807	0.0:0.1516:0.0:0.8484	.	532;602	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	N	602	ENSP00000302895:K602N	ENSP00000302895:K602N	K	-	3	2	ARAP2	35855895	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.894000	0.48640	0.368000	0.24481	0.397000	0.26171	AAA	ARAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000047365		0.363	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	12	0	T	NM_015230		36179500	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	G	G	36179500	T	G	36179500	3	3	40	1	0	0	0	0	1	0	0	0	839	1838	64	4	3408	4	ARAP2	4	36179500	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09		36179500	154974776	71	9728											
TBC1D1	23216	genome.wustl.edu	37	chr4	38138900	38138900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagctgcggcggcggagcGcagagcccagcgaccgggag	8	1	20	12	6	0	1	0	0	0	1	0	5	0	4	2	5	5	2	2	5	0	0	rs542095382		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:38138900G>A	ENST00000261439.4	+	20	3806	c.3451G>A	c.(3451-3453)Gca>Aca	p.A1151T	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Missense_Mutation_p.A1142T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1151					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCGGCGGAGCGCAGAGCCCAG	0.657													G|||	1	0.000199681	0	0	5008	,	,		13971	0.001		0	False		,,,				2504	0																0													22	27	25					4																	38138900		2203	4298	6501	SO:0001583	missense	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3451G>A	4.37:g.38138900G>A	ENSP00000261439:p.Ala1151Thr		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.A1151T	ENST00000261439.4	37	c.3451	CCDS33972.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.14|13.14	2.148219|2.148219	0.37923|0.37923	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	T;T|.	0.04758|.	3.56;4.0|.	4.75|4.75	2.11|2.11	0.27256|0.27256	.|.	0.503112|.	0.18225|.	N|.	0.147780|.	T|T	0.34542|0.34542	0.0901|0.0901	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;P;B|.	0.36483|.	0.0;0.555;0.033|.	B;B;B|.	0.23852|.	0.001;0.049;0.014|.	T|T	0.22138|0.22138	-1.0225|-1.0225	10|5	0.23891|.	T|.	0.37|.	-0.2644|-0.2644	8.2473|8.2473	0.31695|0.31695	0.2452:0.0:0.7548:0.0|0.2452:0.0:0.7548:0.0	.|.	1142;883;1151|.	E9PGH8;Q6PJJ8;Q86TI0|.	.;.;TBCD1_HUMAN|.	T|H	1142;1151;415|838	ENSP00000423651:A1142T;ENSP00000261439:A1151T|.	ENSP00000261439:A1151T|.	A|R	+|+	1|2	0|0	TBC1D1|TBC1D1	37815295|37815295	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.821000|0.821000	0.27338|0.27338	0.239000|0.239000	0.21243|0.21243	0.650000|0.650000	0.86243|0.86243	GCA|CGC	TBC1D1	-	NULL	ENSG00000065882		0.657	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2		0	29	0	G	NM_015173		38138900	1			no_errors	ENST00000261439	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.000	A	A	38138900	G	A	38138900	3	1	40	1	0	0	0	0	1	0	0	0	15644	1087	38	1	3525	1	TBC1D1	4	38138900	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1959400	38138900	153015376	72	9729											
FRYL	285527	genome.wustl.edu	37	chr4	48597621	48597621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacctgagcaatgaactGaataatcttcacaaatatat	17	11	4	9	0	3	3	2	3	1	0	3	3	3	3	1	0	2	1	1	0	7	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:48597621G>T	ENST00000503238.1	-	12	1233	c.1234C>A	c.(1234-1236)Cag>Aag	p.Q412K	FRYL_ENST00000537810.1_Missense_Mutation_p.Q412K|FRYL_ENST00000507711.1_Missense_Mutation_p.Q412K|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.Q118K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q412K			O94915	FRYL_HUMAN	FRY-like	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCAATGAACTGAATAATCTTC	0.363																																																	0													90	79	82					4																	48597621		1855	4089	5944	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1234C>A	4.37:g.48597621G>T	ENSP00000426064:p.Gln412Lys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q412K	ENST00000503238.1	37	c.1234	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.520013	0.96416	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.1	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.79718	0.4494	M	0.79475	2.455	0.80722	D	1	P;D	0.67145	0.843;0.996	P;D	0.67548	0.893;0.952	T	0.75687	-0.3231	10	0.32370	T	0.25	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	412;412	F2Z2S2;O94915	.;FRYL_HUMAN	K	412;412;412;412;118	ENSP00000426064:Q412K;ENSP00000351113:Q412K;ENSP00000441114:Q412K;ENSP00000421584:Q412K	ENSP00000351113:Q412K	Q	-	1	0	FRYL	48292378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.834000	0.97654	0.650000	0.86243	CAG	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.363	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2		0	29	0	G			48597621	-1			no_errors	ENST00000358350	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	48597621	G	T	48597621	3	4	40	1	0	0	0	0	1	0	0	0	6088	1299	45	3	8007	3	FRYL	4	48597621	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	10458721	48597621	142556655	73	9730											
LPHN3	23284	genome.wustl.edu	37	chr4	62903486	62903486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgcctgcgaacacattGctgtagtggcaaaagtacag	14	8	11	8	1	0	0	0	0	0	0	0	2	0	0	1	1	5	4	1	1	6	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:62903486G>T	ENST00000514591.1	+	23	3754	c.3425G>T	c.(3424-3426)tGc>tTc	p.C1142F	LPHN3_ENST00000511324.1_Missense_Mutation_p.C1201F|LPHN3_ENST00000545650.1_Missense_Mutation_p.C1142F|LPHN3_ENST00000514157.1_Missense_Mutation_p.C1133F|LPHN3_ENST00000508693.1_Missense_Mutation_p.C1210F|LPHN3_ENST00000506700.1_Missense_Mutation_p.C1133F|LPHN3_ENST00000509896.1_Missense_Mutation_p.C1210F|LPHN3_ENST00000507625.1_Missense_Mutation_p.C1201F|LPHN3_ENST00000508946.1_Missense_Mutation_p.C1142F|LPHN3_ENST00000506720.1_Missense_Mutation_p.C1210F|LPHN3_ENST00000512091.2_Missense_Mutation_p.C1142F|LPHN3_ENST00000504896.1_Missense_Mutation_p.C1142F|LPHN3_ENST00000507164.1_Missense_Mutation_p.C1201F|LPHN3_ENST00000514996.1_Missense_Mutation_p.C1133F|LPHN3_ENST00000506746.1_Missense_Mutation_p.C1201F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1120					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGAACACATTGCTGTAGTGGC	0.413																																																	0													144	145	145					4																	62903486		1959	4166	6125	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3425G>T	4.37:g.62903486G>T	ENSP00000422533:p.Cys1142Phe		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.C1201F	ENST00000514591.1	37	c.3602	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.277145|4.277145	0.80580|0.80580	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.39229|.	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09|.	5.33|5.33	5.33|5.33	0.75918|0.75918	GPCR, family 2, latrophilin, C-terminal (1);|.	0.101074|.	0.64402|.	D|.	0.000001|.	T|T	0.74959|0.74959	0.3785|0.3785	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.87578|.	0.998;0.998;0.996|.	T|T	0.72915|0.72915	-0.4147|-0.4147	10|5	0.72032|.	D|.	0.01|.	.|.	19.3821|19.3821	0.94542|0.94542	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1142;1120;1142|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	F|F	1142;1142;1210;1201;1133;1142;1120;1142;1201;1210;1201;1133;1142;1142;1210;1201;1133|590	ENSP00000423388:C1142F;ENSP00000422533:C1142F;ENSP00000423787:C1210F;ENSP00000425033:C1201F;ENSP00000424120:C1133F;ENSP00000439831:C1142F;ENSP00000421476:C1201F;ENSP00000424030:C1210F;ENSP00000421372:C1201F;ENSP00000425201:C1133F;ENSP00000423434:C1142F;ENSP00000421627:C1142F;ENSP00000420931:C1210F;ENSP00000425884:C1201F;ENSP00000424258:C1133F|.	ENSP00000280009:C1142F|.	C|L	+|+	2|3	0|2	LPHN3|LPHN3	62586081|62586081	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	9.411000|9.411000	0.97342|0.97342	2.653000|2.653000	0.90120|0.90120	0.650000|0.650000	0.86243|0.86243	TGC|TTG	LPHN3	-	pfam_GPCR_2_latrophilin_rcpt_C	ENSG00000150471		0.413	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0	68	0	G			62903486	1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	62903486	G	T	62903486	3	4	40	1	0	0	0	0	1	0	0	0	8952	1319	46	3	3507	3	LPHN3	4	62903486	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	14305865	62903486	128250790	74	9731											
YTHDC1	91746	genome.wustl.edu	37	chr4	69198527	69198527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccttttcggacagcacGaacggaagatgataatttct	13	11	9	8	3	1	2	0	1	1	1	2	6	1	4	1	2	3	1	1	2	4	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:69198527G>T	ENST00000344157.4	-	6	1347	c.1012C>A	c.(1012-1014)Cgt>Agt	p.R338S	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R338S	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	338					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGACAGCACGAACGGAAGAT	0.318																																																	0													100	90	94					4																	69198527		2202	4299	6501	SO:0001583	missense	0			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1012C>A	4.37:g.69198527G>T	ENSP00000339245:p.Arg338Ser		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.R338S	ENST00000344157.4	37	c.1012	CCDS33992.1	4	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534487	0.27475	.	.	ENSG00000083896	ENST00000344157	T	0.24350	1.86	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	L	0.27053	0.805	0.80722	D	1	B	0.17852	0.024	B	0.17722	0.019	T	0.07347	-1.0777	10	0.02654	T	1	.	19.3228	0.94248	0.0:0.0:1.0:0.0	.	338	Q96MU7	YTDC1_HUMAN	S	338	ENSP00000339245:R338S	ENSP00000339245:R338S	R	-	1	0	YTHDC1	68881122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.443000	0.66581	2.642000	0.89623	0.460000	0.39030	CGT	YTHDC1	-	NULL	ENSG00000083896		0.318	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	YTHDC1	HGNC	protein_coding	OTTHUMT00000251437.1		0	33	0	G	NM_133370		69198527	-1			no_errors	ENST00000344157	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	69198527	G	T	69198527	3	4	40	1	0	0	0	0	1	0	0	0	17545	1058	37	2	1219	2	YTHDC1	4	69198527	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	6295041	69198527	121955749	75	9732											
EPGN	255324	genome.wustl.edu	37	chr4	75178008	75178008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcattccaccatgagctagaGaaagccatctgcaggtaaat	14	8	9	10	0	1	2	0	1	1	1	2	3	2	2	3	1	3	4	3	1	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:75178008G>C	ENST00000413830.1	+	3	301	c.240G>C	c.(238-240)gaG>gaC	p.E80D	EPGN_ENST00000502358.1_Missense_Mutation_p.E80D|EPGN_ENST00000514968.1_Missense_Mutation_p.E71D|EPGN_ENST00000503098.1_Missense_Mutation_p.E80D|EPGN_ENST00000332112.4_Missense_Mutation_p.E71D|EPGN_ENST00000509145.1_Missense_Mutation_p.E50D|EPGN_ENST00000505212.1_Missense_Mutation_p.E71D	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	80	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			ATGAGCTAGAGAAAGCCATCT	0.418																																																	0													159	146	150					4																	75178008		2203	4300	6503	SO:0001583	missense	0				CCDS59475.1, CCDS59476.1, CCDS59477.1, CCDS59478.1, CCDS59479.1	4q13.3	2012-12-07	2012-12-07						17470	protein-coding gene	gene with protein product			"epithelial mitogen homolog (mouse)"				Standard	NM_001270989		Approved	epigen, EPG, PRO9904, ALGV3072	uc003hic.2	Q6UW88		ENST00000413830.1:c.240G>C	4.37:g.75178008G>C	ENSP00000411898:p.Glu80Asp		A1BMM3|A1BMM4|A1BMM5|A1BMM6|A1BMM7|A1BMM8|A8K090	Missense_Mutation	SNP	pfscan_EG-like_dom	p.E80D	ENST00000413830.1	37	c.240	CCDS59478.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.34|10.34	1.323548|1.323548	0.24080|0.24080	.|.	.|.	ENSG00000182585|ENSG00000182585	ENST00000413830;ENST00000332112;ENST00000514968;ENST00000503098;ENST00000502358;ENST00000509145;ENST00000505212|ENST00000446430	T;T;T;T;T;T;T|T	0.41400|0.13538	2.56;2.56;2.56;2.56;1.0;1.0;1.0|2.58	5.63|5.63	2.89|2.89	0.33648|0.33648	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.600408|0.600408	0.17611|0.17611	N|N	0.168081|0.168081	T|T	0.07728|0.07728	0.0194|0.0194	N|N	0.17474|0.17474	0.49|0.49	0.23669|0.23669	N|N	0.997155|0.997155	B;B;B;B;B;B;B|.	0.17268|.	0.001;0.007;0.013;0.021;0.001;0.01;0.001|.	B;B;B;B;B;B;B|.	0.15484|.	0.003;0.006;0.009;0.013;0.003;0.009;0.003|.	T|T	0.40701|0.40701	-0.9549|-0.9549	10|8	0.10111|0.13853	T|T	0.7|0.58	-3.043|-3.043	7.9111|7.9111	0.29791|0.29791	0.0836:0.3092:0.6072:0.0|0.0836:0.3092:0.6072:0.0	.|.	50;80;80;71;80;71;71|.	Q6UW88-7;Q6UW88;Q6UW88-3;Q6UW88-5;Q6UW88-4;Q6UW88-6;Q6UW88-2|.	.;EPGN_HUMAN;.;.;.;.;.|.	D|Q	80;71;71;80;80;50;71|56	ENSP00000411898:E80D;ENSP00000330375:E71D;ENSP00000426550:E71D;ENSP00000425890:E80D;ENSP00000426678:E80D;ENSP00000426630:E50D;ENSP00000424392:E71D|ENSP00000398415:E56Q	ENSP00000330375:E71D|ENSP00000398415:E56Q	E|E	+|+	3|1	2|0	EPGN|EPGN	75396872|75396872	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.667000|0.667000	0.39255|0.39255	0.655000|0.655000	0.24933|0.24933	0.369000|0.369000	0.24510|0.24510	-0.176000|-0.176000	0.13171|0.13171	GAG|GAA	EPGN	-	pfscan_EG-like_dom	ENSG00000182585		0.418	EPGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPGN	HGNC	protein_coding	OTTHUMT00000362738.1	-	0	37	0	G	NM_001013442		75178008	1	tier1	-	no_errors	ENST00000413830	ensembl	human	known	74_37	missense	69.57	14	32	SNP	0.995	C	C	75178008	G	C	75178008	3	2	40	1	0	0	0	0	1	0	0	0	5180	933	33	5	223	5	EPGN	4	75178008	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5979481	75178008	115976268	76	9733											
PDHA2	5161	genome.wustl.edu	37	chr4	96761634	96761634	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcataaacccctcggatcaCgtcattacatcctatagggc	11	9	8	13	2	2	0	2	0	0	0	4	1	3	1	3	3	2	1	3	3	5	4	rs375563184		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:96761634C>T	ENST00000295266.4	+	1	396	c.333C>T	c.(331-333)caC>caT	p.H111H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	111					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCTCGGATCACGTCATTACAT	0.522																																																	0								C		0,4406		0,0,2203	123	108	113		333	-7.2	0	4		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PDHA2	NM_005390.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		111/389	96761634	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.333C>T	4.37:g.96761634C>T			B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.H111	ENST00000295266.4	37	c.333	CCDS3644.1	4																																																																																			PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.522	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0	55	0	C			96761634	1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.258	T	T	96761634	C	T	96761634	2	4	40	1	0	0	0	0	0	0	0	1	11704	535	19	1		1	PDHA2	4	96761634	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	21583626	96761634	94392642	77	9734											
SLC10A7	84068	genome.wustl.edu	37	chr4	147179885	147179885	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacttgattgttggcaccaAcacacttcccagaaggatct	12	10	8	11	0	1	3	0	1	1	2	2	4	2	4	2	2	1	2	2	2	2	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:147179885A>C	ENST00000507030.1	-	11	951	c.952T>G	c.(952-954)Ttg>Gtg	p.L318V	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.L318V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.L318V|SLC10A7_ENST00000432059.2_Missense_Mutation_p.L305V			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	318					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTTGGCACCAACACACTTCCC	0.448																																																	0													146	131	137					4																	147179885		2203	4300	6503	SO:0001583	missense	0			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.952T>G	4.37:g.147179885A>C	ENSP00000421275:p.Leu318Val		A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Missense_Mutation	SNP	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.L318V	ENST00000507030.1	37	c.952	CCDS34073.1	4	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204615	0.79127	.	.	ENSG00000120519	ENST00000432059;ENST00000335472;ENST00000507030;ENST00000394062	.	.	.	5.54	-5.94	0.02247	.	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.70275	2.135	0.80722	D	1	D;D;D	0.62365	0.984;0.988;0.991	P;D;P	0.63381	0.894;0.914;0.861	T	0.75628	-0.3252	9	0.87932	D	0	-13.2707	14.7668	0.69646	0.4662:0.0:0.5338:0.0	.	305;318;318	Q0GE19-3;Q0GE19;Q0GE19-2	.;NTCP7_HUMAN;.	V	305;318;318;318	.	ENSP00000334594:L318V	L	-	1	2	SLC10A7	147399335	0.667000	0.27484	0.859000	0.33776	0.998000	0.95712	0.583000	0.23849	-1.099000	0.03034	0.533000	0.62120	TTG	SLC10A7	-	pirsf_Put_Na-Bile_cotransptr	ENSG00000120519		0.448	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	-	0	41	0	A	NM_032128		147179885	-1	tier1	-	no_errors	ENST00000394062	ensembl	human	known	74_37	missense	41.03	23	16	SNP	0.565	C	C	147179885	A	C	147179885	3	2	40	1	0	0	0	0	1	0	0	0	14424	40	2	4	78	4	SLC10A7	4	147179885	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	50418251	147179885	43974391	78	9735											
ARHGAP10	79658	genome.wustl.edu	37	chr4	148968114	148968114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcctccccgtctcccGtgactacagctgtccctggg	4	11	8	18	2	1	1	0	1	1	0	5	1	4	1	5	1	2	1	5	1	1	2	rs200578124	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:148968114G>T	ENST00000336498.3	+	20	2178	c.1939G>T	c.(1939-1941)Gtg>Ttg	p.V647L	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.V296L	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1347					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCCGTCTCCCGTGACTACAGC	0.522																																																	0													87	88	88					4																	148968114		2203	4300	6503	SO:0001583	missense	0			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1939G>T	4.37:g.148968114G>T	ENSP00000336923:p.Val647Leu		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V647L	ENST00000336498.3	37	c.1939	CCDS34075.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.016|0.016	-1.519746|-1.519746	0.00967|0.00967	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000507661|ENST00000336498;ENST00000414545	.|T;T	.|0.16597	.|3.17;2.33	5.77|5.77	4.52|4.52	0.55395|0.55395	.|.	.|0.560290	.|0.20529	.|N	.|0.090543	T|T	0.08537|0.08537	0.0212|0.0212	N|N	0.08118|0.08118	0|0	0.19300|0.19300	N|N	0.999979|0.999979	.|B;B;B;B	.|0.14805	.|0.008;0.011;0.0;0.001	.|B;B;B;B	.|0.12156	.|0.007;0.003;0.0;0.002	T|T	0.33777|0.33777	-0.9855|-0.9855	5|10	.|0.22109	.|T	.|0.4	.|.	9.4631|9.4631	0.38796|0.38796	0.9178:0.0:0.0822:0.0|0.9178:0.0:0.0822:0.0	.|.	.|80;228;296;647	.|Q9H7G7;Q86T21;E7EUW5;A1A4S6	.|.;.;.;RHG10_HUMAN	L|L	324|647;296	.|ENSP00000336923:V647L;ENSP00000406624:V296L	.|ENSP00000336923:V647L	R|V	+|+	2|1	0|0	ARHGAP10|ARHGAP10	149187564|149187564	0.010000|0.010000	0.17322|0.17322	0.473000|0.473000	0.27253|0.27253	0.040000|0.040000	0.13550|0.13550	1.517000|1.517000	0.35867|0.35867	1.004000|1.004000	0.39156|0.39156	-0.290000|-0.290000	0.09829|0.09829	CGT|GTG	ARHGAP10	-	NULL	ENSG00000071205		0.522	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1		0	44	0	G	NM_024605		148968114	1			no_errors	ENST00000336498	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.654	T	T	148968114	G	T	148968114	3	4	40	1	0	0	0	0	1	0	0	0	862	1145	40	2	2017	2	ARHGAP10	4	148968114	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1788229	148968114	42186162	79	9736											
NR3C2	4306	genome.wustl.edu	37	chr4	149181246	149181246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaggtcttgaagatccaGtagaaacacttcgtaaagta	15	11	9	6	1	1	4	0	2	1	2	3	4	2	4	1	1	1	3	1	1	7	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:149181246G>T	ENST00000358102.3	-	3	2143	c.1781C>A	c.(1780-1782)aCt>aAt	p.T594N	NR3C2_ENST00000511528.1_Missense_Mutation_p.T594N|NR3C2_ENST00000355292.3_Missense_Mutation_p.T594N|NR3C2_ENST00000344721.4_Missense_Mutation_p.T594N|NR3C2_ENST00000512865.1_Missense_Mutation_p.T594N	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	594	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TGAAGATCCAGTAGAAACACT	0.413																																					Melanoma(27;428 957 40335 51025 51111)												0													99	95	96					4																	149181246		2203	4300	6503	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1781C>A	4.37:g.149181246G>T	ENSP00000350815:p.Thr594Asn		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.T594N	ENST00000358102.3	37	c.1781	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280677	0.59758	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90133	-2.62;-2.61;-2.62;-2.26;-2.25;-2.61	5.98	5.98	0.97165	.	0.098316	0.64402	D	0.000002	D	0.83843	0.5342	N	0.19112	0.55	0.44092	D	0.996856	P;B	0.38250	0.624;0.263	B;B	0.32864	0.154;0.104	T	0.81760	-0.0785	9	.	.	.	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	594;594	B0ZBF5;B0ZBF6	.;.	N	594	ENSP00000341390:T594N;ENSP00000347441:T594N;ENSP00000350815:T594N;ENSP00000423510:T594N;ENSP00000343907:T594N;ENSP00000421481:T594N	.	T	-	2	0	NR3C2	149400696	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.983000	0.70540	2.838000	0.97847	0.591000	0.81541	ACT	NR3C2	-	NULL	ENSG00000151623		0.413	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	-	0	44	0	G			149181246	-1	tier1	-	no_errors	ENST00000355292	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	149181246	G	T	149181246	3	4	40	1	0	0	0	0	1	0	0	0	10670	1029	36	3	1201	3	NR3C2	4	149181246	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	213132	149181246	41973030	80	9737											
KIAA0922	23240	genome.wustl.edu	37	chr4	154504393	154504393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaaacagccttatatGgatacaggtaattgtaaatg	15	12	9	5	0	1	0	1	0	0	0	1	2	1	2	1	3	3	2	1	3	7	7			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:154504393G>T	ENST00000409663.3	+	10	996	c.944G>T	c.(943-945)tGg>tTg	p.W315L	KIAA0922_ENST00000409959.3_Missense_Mutation_p.W315L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.W315L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	315						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGCCTTATATGGATACAGGTA	0.308																																																	0													81	92	88					4																	154504393		2201	4295	6496	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.944G>T	4.37:g.154504393G>T	ENSP00000386574:p.Trp315Leu		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.W315L	ENST00000409663.3	37	c.944	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382040	0.42207	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.16073	2.62;2.37;2.62;2.37	6.02	6.02	0.97574	.	0.320592	0.35407	N	0.003229	T	0.17831	0.0428	L	0.27053	0.805	0.24371	N	0.994834	D;B;B	0.63046	0.992;0.095;0.116	P;B;B	0.55161	0.77;0.03;0.05	T	0.17077	-1.0381	10	0.11485	T	0.65	-12.3223	9.377	0.38290	0.1178:0.0:0.8822:0.0	.	315;315;315	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	L	315;315;315;176	ENSP00000386574:W315L;ENSP00000409663:W315L;ENSP00000386787:W315L;ENSP00000240487:W176L	ENSP00000240487:W176L	W	+	2	0	KIAA0922	154723843	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	3.387000	0.52501	2.865000	0.98341	0.655000	0.94253	TGG	KIAA0922	-	pfam_DUF3651_TMEM131	ENSG00000121210		0.308	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1		0	19	0	G	NM_015196		154504393	1			no_errors	ENST00000409959	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.999	T	T	154504393	G	T	154504393	3	4	40	1	0	0	0	0	1	0	0	0	8228	1357	47	3	982	3	KIAA0922	4	154504393	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5323147	154504393	36649883	81	9738											
FSTL5	56884	genome.wustl.edu	37	chr4	162307449	162307449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggtgctgtcaggtttgCagccaatgaagtagtagcct	8	11	12	10	1	1	1	1	1	0	0	2	1	2	1	3	2	4	5	3	2	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:162307449C>T	ENST00000306100.5	-	16	2430	c.1994G>A	c.(1993-1995)tGc>tAc	p.C665Y	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.C655Y|FSTL5_ENST00000536695.1_Missense_Mutation_p.C664Y|FSTL5_ENST00000379164.4_Missense_Mutation_p.C664Y	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	665						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTCAGGTTTGCAGCCAATGAA	0.468																																																	0													98	90	92					4																	162307449		2203	4300	6503	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1994G>A	4.37:g.162307449C>T	ENSP00000305334:p.Cys665Tyr		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.C665Y	ENST00000306100.5	37	c.1994	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026781	0.75390	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.65845	-0.6069	10	0.66056	D	0.02	.	18.213	0.89877	0.0:1.0:0.0:0.0	.	655;664;665	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	Y	665;664;655;664	ENSP00000305334:C665Y;ENSP00000368462:C664Y;ENSP00000389270:C655Y;ENSP00000440409:C664Y	ENSP00000305334:C665Y	C	-	2	0	FSTL5	162526899	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.361000	0.79497	2.545000	0.85829	0.563000	0.77884	TGC	FSTL5	-	NULL	ENSG00000168843		0.468	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0	44	0	C	NM_020116		162307449	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	162307449	C	T	162307449	3	4	40	1	0	0	0	0	1	0	0	0	6104	710	25	3	553	3	FSTL5	4	162307449	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	7803056	162307449	28846827	82	9739											
NAF1	92345	genome.wustl.edu	37	chr4	164050200	164050200	+	Frame_Shift_Del	DEL	G	G	-																															cccaacccatgtttacaggtGggggtggtggtgggggtgga																										TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:164050200delG	ENST00000274054.2	-	8	1527	c.1334delC	c.(1333-1335)ccafs	p.P446fs	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	446	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTTACAggtgggggtggtgg	0.527																																																	0																																										SO:0001589	frameshift_variant	0				CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"nuclear assembly factor 1 homolog (S. cerevisiae)"			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1334delC	4.37:g.164050200delG	ENSP00000274054:p.Pro446fs		D3DP28|E9PAZ2	Frame_Shift_Del	DEL	pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel	p.P445fs	ENST00000274054.2	37	c.1334	CCDS3803.1	4																																																																																			NAF1	-	NULL	ENSG00000145414		0.527	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAF1	HGNC	protein_coding	OTTHUMT00000364684.2		0	23	0	G	NM_138386		164050200	-1	tier1		no_errors	ENST00000274054	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.226	-	-	164050200	G	-	164050200	7	5	40	1	0	1	0	1	0	0	0	0	10178	1348	47	0	295	0	NAF1	4	164050200	Frame_Shift_Del	DEL	G	TCGA-JY-A6FH-01A-11D-A33E-09	1742751	164050200	27104076	83	9740											
FAT1	2195	genome.wustl.edu	37	chr4	187540345	187540345	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactccatcagacactgaCaggttaagactgtaaaatgg	17	8	8	8	0	1	3	1	1	0	2	2	3	2	3	1	2	1	2	1	2	5	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr4:187540345C>A	ENST00000441802.2	-	10	7604	c.7395G>T	c.(7393-7395)ctG>ctT	p.L2465L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2465	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGACACTGACAGGTTAAGAC	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													198	198	198					4																	187540345		1981	4159	6140	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7395G>T	4.37:g.187540345C>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L2465	ENST00000441802.2	37	c.7395	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0	36	0	C	NM_005245		187540345	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	silent	10.00	26	3	SNP	0.620	A	A	187540345	C	A	187540345	2	1	40	1	0	0	0	0	0	0	0	1	5711	465	17	3		3	FAT1	4	187540345	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	23490145	187540345	3613931	84	9741											
SLC9A3	6550	genome.wustl.edu	37	chr5	492104	492104	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtggtcggccgcccagacGatgccgcccagcaccaggcc	7	4	13	17	4	0	1	0	0	0	1	1	2	0	1	6	3	2	1	6	3	0	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:492104G>A	ENST00000264938.3	-	2	303	c.294C>T	c.(292-294)atC>atT	p.I98I	SLC9A3_ENST00000514375.1_Silent_p.I98I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	98					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CCGCCCAGACGATGCCGCCCA	0.662																																																	0													44	30	35					5																	492104		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"Solute carriers"	11073	protein-coding gene	gene with protein product		182307	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3", "solute carrier family 9 (sodium/hydrogen exchanger), member 3"	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.294C>T	5.37:g.492104G>A			B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.I98	ENST00000264938.3	37	c.294	CCDS3855.1	5																																																																																			SLC9A3	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000066230		0.662	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3	HGNC	protein_coding	OTTHUMT00000206677.2	-	0	98	0	G	NM_004174		492104	-1	tier1	-	no_errors	ENST00000264938	ensembl	human	known	74_37	silent	23.73	90	28	SNP	0.970	A	A	492104	G	A	492104	2	1	40	1	0	0	0	0	0	0	0	1	14758	1048	37	1		1	SLC9A3	5	492104	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		492104	180423156	85	9742											
SLC6A18	348932	genome.wustl.edu	37	chr5	1242967	1242967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcctgcctcctggaagacTttctggataaggtacctgca	9	10	11	11	0	1	1	0	0	1	1	2	3	2	3	4	4	3	2	4	4	3	3	rs374479506		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:1242967T>G	ENST00000324642.3	+	8	1243	c.1120T>G	c.(1120-1122)Ttt>Gtt	p.F374V	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	374					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGGAAGACTTTCTGGATAA	0.652																																																	0													74	73	73					5																	1242967		2203	4300	6503	SO:0001583	missense	0			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1120T>G	5.37:g.1242967T>G	ENSP00000323549:p.Phe374Val			Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.F374V	ENST00000324642.3	37	c.1120	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041093	0.35989	.	.	ENSG00000164363	ENST00000324642	T	0.69175	-0.38	4.71	4.71	0.59529	.	0.066051	0.64402	D	0.000011	T	0.71187	0.3310	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.66468	-0.5916	10	0.16896	T	0.51	.	11.5614	0.50778	0.0:0.0:0.0:1.0	.	374	Q96N87	S6A18_HUMAN	V	374	ENSP00000323549:F374V	ENSP00000323549:F374V	F	+	1	0	SLC6A18	1295967	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.296000	0.59055	1.761000	0.52028	0.459000	0.35465	TTT	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000164363		0.652	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	-	0	57	0	T	NM_182632		1242967	1	tier1	-	no_errors	ENST00000324642	ensembl	human	known	74_37	missense	21.36	81	22	SNP	1.000	G	G	1242967	T	G	1242967	3	3	40	1	0	0	0	0	1	0	0	0	14726	1609	56	4	1150	4	SLC6A18	5	1242967	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	750863	1242967	179672293	86	9743											
RNASEN	29102	genome.wustl.edu	37	chr5	31508814	31508814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaataacgtcaaaaaCttcagagtctgagctgctag	13	11	8	9	1	4	2	2	1	2	1	4	2	4	2	0	0	5	3	0	0	5	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:31508814C>G	ENST00000511367.2	-	9	1745	c.1501G>C	c.(1501-1503)Gtt>Ctt	p.V501L	DROSHA_ENST00000344624.3_Missense_Mutation_p.V501L|Y_RNA_ENST00000383955.1_RNA|DROSHA_ENST00000442743.1_Missense_Mutation_p.V464L|DROSHA_ENST00000513349.1_Missense_Mutation_p.V464L	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	501	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACGTCAAAAACTTCAGAGTCT	0.453																																																	0													115	108	110					5																	31508814		1904	4119	6023	SO:0001583	missense	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1501G>C	5.37:g.31508814C>G	ENSP00000425979:p.Val501Leu		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.V501L	ENST00000511367.2	37	c.1501	CCDS47195.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.963648|3.963648	0.74016|0.74016	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.|T;T;T;T	.|0.45668	.|1.47;1.47;0.89;0.89	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.58750|0.58750	0.2144|0.2144	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.61697	.|0.99;0.841;0.817	.|D;P;B	.|0.75484	.|0.986;0.846;0.444	T|T	0.49495|0.49495	-0.8934|-0.8934	5|10	.|0.25751	.|T	.|0.34	-18.1387|-18.1387	19.3983|19.3983	0.94617|0.94617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|433;464;501	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	T|L	262|501;501;464;464;426;457	.|ENSP00000425979:V501L;ENSP00000339845:V501L;ENSP00000409335:V464L;ENSP00000424161:V464L	.|ENSP00000265075:V426L	S|V	-|-	2|1	0|0	DROSHA|DROSHA	31544571|31544571	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.968000|0.968000	0.65278|0.65278	7.487000|7.487000	0.81328|0.81328	2.596000|2.596000	0.87737|0.87737	0.650000|0.650000	0.86243|0.86243	AGT|GTT	DROSHA	-	NULL	ENSG00000113360		0.453	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0	70	0	C	NM_013235		31508814	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	19.11	126	30	SNP	1.000	G	G	31508814	C	G	31508814	3	3	40	1	0	0	0	0	1	0	0	0	13462	565	20	5	2731	5	RNASEN	5	31508814	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	30265847	31508814	149406446	87	9744											
SPEF2	79925	genome.wustl.edu	37	chr5	35641562	35641562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaacttaataatttttCtcgcttggagccaacactta	12	14	5	10	1	1	0	0	0	1	0	2	1	1	1	2	1	4	1	2	1	5	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:35641562C>A	ENST00000356031.3	+	3	345	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	SPEF2_ENST00000509059.1_Missense_Mutation_p.S64Y|SPEF2_ENST00000440995.2_Missense_Mutation_p.S64Y|SPEF2_ENST00000282469.6_Missense_Mutation_p.S64Y	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	64	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATAATTTTTCTCGCTTGGAG	0.378																																																	0													79	83	82					5																	35641562		2203	4300	6503	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.191C>A	5.37:g.35641562C>A	ENSP00000348314:p.Ser64Tyr		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.S64Y	ENST00000356031.3	37	c.191	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818240	0.90790	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.93	5.93	0.95920	Calponin homology domain (1);	0.196339	0.44097	D	0.000483	T	0.52306	0.1726	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.998;0.994;0.974	T	0.47923	-0.9079	10	0.72032	D	0.01	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	64;64;64	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	Y	64	ENSP00000282469:S64Y;ENSP00000348314:S64Y;ENSP00000421593:S64Y;ENSP00000426259:S64Y;ENSP00000412125:S64Y	ENSP00000282469:S64Y	S	+	2	0	SPEF2	35677319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.706000	0.74649	2.814000	0.96858	0.655000	0.94253	TCT	SPEF2	-	pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain	ENSG00000152582		0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	63	0	C	NM_144722		35641562	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	22.64	123	36	SNP	1.000	A	A	35641562	C	A	35641562	3	1	40	1	0	0	0	0	1	0	0	0	15082	913	32	3	201	3	SPEF2	5	35641562	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	4132748	35641562	145273698	88	9745											
TTC37	9652	genome.wustl.edu	37	chr5	94820496	94820496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtgacagcttgtgagaGagaccacttttcaagggact	12	9	11	9	0	1	3	1	2	0	2	1	6	1	4	2	1	1	1	2	1	1	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:94820496G>T	ENST00000358746.2	-	38	4283	c.3985C>A	c.(3985-3987)Ctc>Atc	p.L1329I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1329						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GCTTGTGAGAGAGACCACTTT	0.348																																																	0													130	130	130					5																	94820496		2202	4300	6502	SO:0001583	missense	0			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"Tetratricopeptide (TTC) repeat domain containing"	23639	protein-coding gene	gene with protein product		614589	"KIAA0372"	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3985C>A	5.37:g.94820496G>T	ENSP00000351596:p.Leu1329Ile		O15077|Q6PJI3	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1329I	ENST00000358746.2	37	c.3985	CCDS4072.1	5	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680832	0.47886	.	.	ENSG00000198677	ENST00000358746	T	0.80566	-1.39	5.86	4.05	0.47172	.	0.063176	0.64402	D	0.000006	T	0.66577	0.2803	L	0.34521	1.04	0.32745	N	0.507143	P	0.38300	0.626	B	0.36186	0.219	T	0.66984	-0.5785	10	0.20046	T	0.44	.	7.3825	0.26864	0.1458:0.1391:0.715:0.0	.	1329	Q6PGP7	TTC37_HUMAN	I	1329	ENSP00000351596:L1329I	ENSP00000351596:L1329I	L	-	1	0	TTC37	94846252	1.000000	0.71417	0.926000	0.36857	0.814000	0.46013	3.530000	0.53539	0.784000	0.33661	0.650000	0.86243	CTC	TTC37	-	NULL	ENSG00000198677		0.348	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	HGNC	protein_coding	OTTHUMT00000241651.1	-	0	39	0	G	NM_014639		94820496	-1	tier1	-	no_errors	ENST00000358746	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.976	T	T	94820496	G	T	94820496	3	4	40	1	0	0	0	0	1	0	0	0	16754	942	33	3	733	3	TTC37	5	94820496	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	59178934	94820496	86094764	89	9746											
RGMB	285704	genome.wustl.edu	37	chr5	98115457	98115457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcctgccgtggcaacctgGtataccattctgccgtgttg	7	11	11	12	2	1	0	0	0	1	0	1	0	1	0	5	2	5	3	5	2	4	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:98115457G>T	ENST00000513185.1	+	2	746	c.310G>T	c.(310-312)Gta>Tta	p.V104L	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Missense_Mutation_p.V145L			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	104					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGGCAACCTGGTATACCATTC	0.542																																																	0													66	68	68					5																	98115457		1973	4157	6130	SO:0001583	missense	0			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.310G>T	5.37:g.98115457G>T	ENSP00000423256:p.Val104Leu		D6R9A0|Q8NC92	Missense_Mutation	SNP	pfam_RGM_C,pfam_RGM_N	p.V145L	ENST00000513185.1	37	c.433		5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421301	0.83559	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97352	-4.35;-4.35	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	M	0.75447	2.3	0.58432	D	0.999992	D	0.63880	0.993	D	0.63381	0.914	D	0.97076	0.9781	10	0.24483	T	0.36	-14.7739	19.5247	0.95199	0.0:0.0:1.0:0.0	.	104	Q6NW40	RGMB_HUMAN	L	145;104	ENSP00000308219:V145L;ENSP00000423256:V104L	ENSP00000308219:V145L	V	+	1	0	RGMB	98143357	0.997000	0.39634	0.934000	0.37439	0.993000	0.82548	5.348000	0.66004	2.689000	0.91719	0.563000	0.77884	GTA	RGMB	-	pfam_RGM_N	ENSG00000174136		0.542	RGMB-003	KNOWN	basic	protein_coding	RGMB	HGNC	protein_coding	OTTHUMT00000370308.1		0	48	0	G	NM_173670		98115457	1			no_errors	ENST00000308234	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	98115457	G	T	98115457	3	4	40	1	0	0	0	0	1	0	0	0	13326	1261	44	3	443	3	RGMB	5	98115457	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3294961	98115457	82799803	90	9747											
TSLP	85480	genome.wustl.edu	37	chr5	110411739	110411739	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattacaaggattgtggcgTcgcttcaatcgacctttact	10	13	8	10	3	1	0	1	0	0	0	3	2	1	1	1	2	2	1	1	2	5	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:110411739T>G	ENST00000344895.3	+	4	646	c.447T>G	c.(445-447)cgT>cgG	p.R149R	CTC-551A13.2_ENST00000507269.3_RNA|TSLP_ENST00000379706.4_Silent_p.R53R|TSLP_ENST00000420978.2_Silent_p.R149R	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	149						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GATTGTGGCGTCGCTTCAATC	0.353																																																	0													127	125	126					5																	110411739		2202	4300	6502	SO:0001819	synonymous_variant	0			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.447T>G	5.37:g.110411739T>G			Q8IW99	Silent	SNP	NULL	p.R149	ENST00000344895.3	37	c.447	CCDS4101.1	5																																																																																			TSLP	-	NULL	ENSG00000145777		0.353	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSLP	HGNC	protein_coding	OTTHUMT00000250717.1	-	0	14	0	T	NM_033035		110411739	1	tier1	-	no_errors	ENST00000344895	ensembl	human	known	74_37	silent	79.63	11	43	SNP	0.000	G	G	110411739	T	G	110411739	2	3	40	1	0	0	0	0	0	0	0	1	16676	1654	58	4		4	TSLP	5	110411739	Silent	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	12296282	110411739	70503521	91	9748											
APC	324	genome.wustl.edu	37	chr5	112151228	112151229	+	Frame_Shift_Ins	INS	-	-	T																															ggaccatgaaacagccagtgINSttttgagttctagtagcaca																										TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:112151228_112151229insT	ENST00000457016.1	+	9	1251_1252	c.871_872insT	c.(871-873)gttfs	p.V291fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.V291fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.V291fs			P25054	APC_HUMAN	adenomatous polyposis coli	291	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.V291F(1)|p.L292fs*4(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACAGCCAGTGTTTTGAGTTCT	0.396		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Missense(1)|Insertion - Frameshift(1)	large_intestine(2)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.875dupT	5.37:g.112151232_112151232dupT	ENSP00000413133:p.Val291fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L292fs	ENST00000457016.1	37	c.871_872	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.396	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	50	0	-	NM_000038		112151229	1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_ins	53.70	25	29	INS	1.000:1.000	T	T	112151229	-	T	112151228	7	5	40	1	0	1	1	0	0	0	0	0	763	1377	48	0	901	0	APC	5	112151228	Frame_Shift_Ins	INS	-	TCGA-JY-A6FH-01A-11D-A33E-09	1739489	112151228	68764032	92	9749											
SEC24A	10802	genome.wustl.edu	37	chr5	134053838	134053838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagaagctgagcagagatgGagctttcctcatggatgcag	11	8	15	7	0	1	3	1	1	0	2	2	7	2	5	1	3	4	4	1	3	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:134053838G>T	ENST00000398844.2	+	20	3233	c.2945G>T	c.(2944-2946)gGa>gTa	p.G982V	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	982					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCAGAGATGGAGCTTTCCTC	0.433																																																	0													105	103	104					5																	134053838		1892	4130	6022	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2945G>T	5.37:g.134053838G>T	ENSP00000381823:p.Gly982Val		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.G982V	ENST00000398844.2	37	c.2945	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078434	0.76528	.	.	ENSG00000113615	ENST00000398844	T	0.38077	1.16	5.31	5.31	0.75309	Gelsolin domain (1);	0.105548	0.64402	D	0.000005	T	0.71082	0.3298	H	0.95402	3.665	0.80722	D	1	D;D	0.67145	0.979;0.996	P;D	0.63488	0.732;0.915	T	0.81324	-0.0984	10	0.87932	D	0	-12.1357	18.9836	0.92763	0.0:0.0:1.0:0.0	.	746;982	B4E205;O95486	.;SC24A_HUMAN	V	982	ENSP00000381823:G982V	ENSP00000381823:G982V	G	+	2	0	SEC24A	134081737	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.473000	0.73572	2.500000	0.84329	0.467000	0.42956	GGA	SEC24A	-	pfam_Gelsolin_dom	ENSG00000113615		0.433	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1		0	20	0	G			134053838	1			no_errors	ENST00000398844	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	134053838	G	T	134053838	3	4	40	1	0	0	0	0	1	0	0	0	14039	1174	41	3	3023	3	SEC24A	5	134053838	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	21902610	134053838	46861422	93	9750											
KIAA0141	9812	genome.wustl.edu	37	chr5	141309600	141309600	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtagtagcatcgagtcCgaggcaaaaccagcccagcc	12	4	11	14	2	0	0	0	0	0	0	2	2	1	0	5	1	4	4	5	1	4	2	rs138552747		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:141309600C>A	ENST00000432126.2	+	6	752	c.618C>A	c.(616-618)tcC>tcA	p.S206S	KIAA0141_ENST00000194118.4_Silent_p.S206S	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	206					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)		p.S206S(1)		endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCGAGTCCGAGGCAAAAC	0.542																																																	1	Substitution - coding silent(1)	skin(1)											85	86	86					5																	141309600		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.618C>A	5.37:g.141309600C>A			Q969R4|Q96EU9	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.S206	ENST00000432126.2	37	c.618	CCDS4268.1	5																																																																																			KIAA0141	-	NULL	ENSG00000081791		0.542	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2		0	49	0	C	NM_014773		141309600	1			no_errors	ENST00000194118	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.009	A	A	141309600	C	A	141309600	2	1	40	1	0	0	0	0	0	0	0	1	8183	639	23	2		2	KIAA0141	5	141309600	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	7255762	141309600	39605660	94	9751											
ADAM19	8728	genome.wustl.edu	37	chr5	156924017	156924017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagaagttggtagggcaGtggggagacttgcccgtaca	9	9	17	6	1	0	2	0	0	0	2	0	3	0	2	1	5	2	5	1	5	4	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:156924017G>T	ENST00000517905.1	-	14	1523	c.1479C>A	c.(1477-1479)caC>caA	p.H493Q	ADAM19_ENST00000430702.2_Missense_Mutation_p.H226Q|ADAM19_ENST00000394020.1_Missense_Mutation_p.H495Q|ADAM19_ENST00000257527.4_Missense_Mutation_p.H493Q			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	493	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTAGGGCAGTGGGGAGACT	0.627																																																	0													47	46	46					5																	156924017		2203	4300	6503	SO:0001583	missense	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1479C>A	5.37:g.156924017G>T	ENSP00000428654:p.His493Gln		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.H495Q	ENST00000517905.1	37	c.1485		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.436365|2.436365	0.43224|0.43224	.|.	.|.	ENSG00000135074|ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905|ENST00000517374	T;T;T;T|.	0.10382|.	2.88;2.88;2.88;2.88|.	5.49|5.49	-6.0|-6.0	0.02206|0.02206	Blood coagulation inhibitor, Disintegrin (6);|.	0.606264|.	0.15652|.	N|.	0.251362|.	T|T	0.33089|0.33089	0.0851|0.0851	L|L	0.33339|0.33339	1.005|1.005	0.33895|0.33895	D|D	0.637823|0.637823	B;B;B|.	0.11235|.	0.002;0.004;0.002|.	B;B;B|.	0.12156|.	0.004;0.007;0.007|.	T|T	0.46048|0.46048	-0.9219|-0.9219	10|5	0.52906|.	T|.	0.07|.	.|.	6.3546|6.3546	0.21395|0.21395	0.1248:0.3602:0.4232:0.0918|0.1248:0.3602:0.4232:0.0918	.|.	493;493;226|.	Q9H013-2;Q9H013;E9PD32|.	.;ADA19_HUMAN;.|.	Q|N	226;493;495;493|64	ENSP00000414088:H226Q;ENSP00000257527:H493Q;ENSP00000377588:H495Q;ENSP00000428654:H493Q|.	ENSP00000257527:H493Q|.	H|T	-|-	3|2	2|0	ADAM19|ADAM19	156856595|156856595	0.759000|0.759000	0.28416|0.28416	0.958000|0.958000	0.39756|0.39756	0.984000|0.984000	0.73092|0.73092	-0.183000|-0.183000	0.09712|0.09712	-0.747000|-0.747000	0.04759|0.04759	0.557000|0.557000	0.71058|0.71058	CAC|ACT	ADAM19	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin	ENSG00000135074		0.627	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	-	0	60	0	G	NM_033274		156924017	-1	tier1	-	no_errors	ENST00000394020	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.897	T	T	156924017	G	T	156924017	3	4	40	1	0	0	0	0	1	0	0	0	240	1020	36	3	1317	3	ADAM19	5	156924017	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	15614417	156924017	23991243	95	9752											
ZFP2	80108	genome.wustl.edu	37	chr5	178359431	178359431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcccttaccgtgcatCaggtcattcacactggagag	10	10	9	12	1	4	1	4	0	0	1	5	3	5	1	2	2	2	1	2	2	1	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:178359431C>A	ENST00000361362.2	+	5	1647	c.1117C>A	c.(1117-1119)Cag>Aag	p.Q373K	ZFP2_ENST00000503510.2_Missense_Mutation_p.Q373K|ZFP2_ENST00000520301.1_Missense_Mutation_p.Q373K|ZFP2_ENST00000523286.1_Missense_Mutation_p.Q373K	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TACCGTGCATCAGGTCATTCA	0.423																																																	0													91	83	86					5																	178359431		2203	4300	6503	SO:0001583	missense	0			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.1117C>A	5.37:g.178359431C>A	ENSP00000354453:p.Gln373Lys		A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q373K	ENST00000361362.2	37	c.1117	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	c	11.60	1.687311	0.29962	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.96	2.06	0.26882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.287220	0.18862	N	0.129084	T	0.03220	0.0094	N	0.02697	-0.525	0.24982	N	0.991594	P	0.40282	0.711	B	0.35688	0.208	T	0.38351	-0.9665	10	0.56958	D	0.05	-3.2993	8.4086	0.32629	0.0:0.4773:0.4359:0.0868	.	373	Q6ZN57	ZFP2_HUMAN	K	373	ENSP00000354453:Q373K;ENSP00000430980:Q373K;ENSP00000430531:Q373K;ENSP00000438114:Q373K	ENSP00000354453:Q373K	Q	+	1	0	ZFP2	178292037	0.003000	0.15002	0.997000	0.53966	0.970000	0.65996	0.617000	0.24359	0.667000	0.31107	0.655000	0.94253	CAG	ZFP2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198939		0.423	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	-	0	38	0	C	NM_030613		178359431	1	tier1	-	no_errors	ENST00000361362	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.997	A	A	178359431	C	A	178359431	3	1	40	1	0	0	0	0	1	0	0	0	17689	827	29	3	1119	3	ZFP2	5	178359431	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	21435414	178359431	2555829	96	9753											
HNRNPH1	3187	genome.wustl.edu	37	chr5	179045245	179045245	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtcataaggacctggccGctgcatggccataagctttc	8	11	10	12	1	2	0	1	0	1	0	3	1	2	1	3	3	2	3	3	3	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr5:179045245G>T	ENST00000356731.5	-	5	2151	c.616C>A	c.(616-618)Cgg>Agg	p.R206R	HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000329433.6_Silent_p.R206R|HNRNPH1_ENST00000393432.4_Silent_p.R206R|HNRNPH1_ENST00000442819.2_Silent_p.R206R|HNRNPH1_ENST00000511300.2_5'Flank|HNRNPH1_ENST00000510411.1_Silent_p.R206R			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	206					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						GGACCTGGCCGCTGCATGGCC	0.478																																																	0													135	130	132					5																	179045245		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"RNA binding motif (RRM) containing"	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.616C>A	5.37:g.179045245G>T			B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S159R	ENST00000356731.5	37	c.477	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	g	13.58	2.279207	0.40294	.	.	ENSG00000169045	ENST00000521173;ENST00000508103;ENST00000506721;ENST00000510431	T;T;T	0.35421	1.31;1.31;1.36	5.52	4.65	0.58169	.	.	.	.	.	T	0.49372	0.1553	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45220	-0.9276	5	.	.	.	-0.4994	14.6998	0.69147	0.0:0.0:0.7234:0.2766	.	.	.	.	R	80;159;159;159	ENSP00000425732:S159R;ENSP00000420850:S159R;ENSP00000423140:S159R	.	S	-	3	2	HNRNPH1	178977851	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.448000	0.60027	1.454000	0.47793	0.585000	0.79938	AGC	HNRNPH1	-	NULL	ENSG00000169045		0.478	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3		0	63	0	G	NM_005520		179045245	-1			no_errors	ENST00000510678	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	179045245	G	T	179045245	2	4	40	1	0	0	0	0	0	0	0	1	7293	1086	38	2		2	HNRNPH1	5	179045245	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	685814	179045245	1870015	97	9754											
ZSCAN23	222696	genome.wustl.edu	37	chr6	28402405	28402405	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaactcttattgcactgaTtgcactggtaaggcttctcc	10	14	7	10	0	2	1	0	1	2	0	3	1	2	1	1	2	3	4	1	2	4	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:28402405T>A	ENST00000289788.4	-	4	1152	c.1007A>T	c.(1006-1008)aAt>aTt	p.N336I	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	336					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						ATTGCACTGATTGCACTGGTA	0.468																																																	0													106	92	96					6																	28402405		692	1591	2283	SO:0001583	missense	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.1007A>T	6.37:g.28402405T>A	ENSP00000289788:p.Asn336Ile		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N336I	ENST00000289788.4	37	c.1007	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518234	0.44763	.	.	ENSG00000187987	ENST00000289788	T	0.07567	3.18	3.93	-5.78	0.02362	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.875910	0.02724	N	0.114289	T	0.03305	0.0096	L	0.58101	1.795	0.09310	N	1	B	0.22909	0.077	B	0.29267	0.1	T	0.37079	-0.9721	10	0.38643	T	0.18	.	9.2986	0.37831	0.0:0.5986:0.1459:0.2555	.	336	Q3MJ62	ZSC23_HUMAN	I	336	ENSP00000289788:N336I	ENSP00000289788:N336I	N	-	2	0	ZSCAN23	28510384	0.000000	0.05858	0.001000	0.08648	0.965000	0.64279	-1.490000	0.02304	-1.459000	0.01914	-0.256000	0.11100	AAT	ZSCAN23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187987		0.468	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2	-	0	40	0	T	XM_167147		28402405	-1	tier1	-	no_errors	ENST00000289788	ensembl	human	known	74_37	missense	45.76	32	27	SNP	0.000	A	A	28402405	T	A	28402405	3	1	40	1	0	0	0	0	1	0	0	0	18283	1493	52	5	166	5	ZSCAN23	6	28402405	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09		28402405	142712662	98	9755											
OR2J3	442186	genome.wustl.edu	37	chr6	29079992	29079992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaactttactttgttctcGcactgggaaccacagagtgt	9	14	8	10	1	2	1	1	0	1	1	3	2	2	2	1	1	3	2	1	1	3	5	rs201612570	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:29079992G>A	ENST00000377169.1	+	1	325	c.325G>A	c.(325-327)Gca>Aca	p.A109T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTTTGTTCTCGCACTGGGAAC	0.502																																																	0													261	290	280					6																	29079992		1335	2621	3956	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.325G>A	6.37:g.29079992G>A	ENSP00000366374:p.Ala109Thr		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A109T	ENST00000377169.1	37	c.325	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	G	8.493	0.862558	0.17178	.	.	ENSG00000204701	ENST00000377169	T	0.02140	4.43	2.78	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	L	0.31578	0.945	0.09310	N	0.999996	P	0.37525	0.598	B	0.35073	0.195	T	0.49273	-0.8957	9	0.39692	T	0.17	.	4.2131	0.10521	0.1308:0.0:0.4727:0.3964	.	109	O76001	OR2J3_HUMAN	T	109	ENSP00000366374:A109T	ENSP00000366374:A109T	A	+	1	0	OR2J3	29187971	0.000000	0.05858	0.269000	0.24586	0.104000	0.19210	-0.196000	0.09532	0.491000	0.27793	-0.436000	0.05848	GCA	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204701		0.502	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2		0	49	0	G			29079992	1			no_errors	ENST00000377169	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.183	A	A	29079992	G	A	29079992	3	1	40	1	0	0	0	0	1	0	0	0	11043	1087	38	1	327	1	OR2J3	6	29079992	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	677587	29079992	142035075	99	9756											
BAT4	7918	genome.wustl.edu	37	chr6	31631629	31631629	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagctaaagtttccccttaCcggttttccgggctccttgt	5	15	9	12	2	0	1	0	1	0	0	3	1	3	1	5	2	2	4	5	2	3	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:31631629C>T	ENST00000375906.1	-	3	1311		c.e3+1		GPANK1_ENST00000375893.2_Splice_Site|CSNK2B_ENST00000375866.2_5'Flank|CSNK2B_ENST00000375882.2_5'Flank|GPANK1_ENST00000375900.4_Splice_Site|CSNK2B_ENST00000375865.2_5'Flank|Y_RNA_ENST00000364337.1_RNA|GPANK1_ENST00000375896.4_Splice_Site|CSNK2B-LY6G5B-1181_ENST00000375880.2_5'Flank|CSNK2B_ENST00000375885.4_5'Flank|GPANK1_ENST00000375895.2_Splice_Site	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1								nucleic acid binding (GO:0003676)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TTTCCCCTTACCGGTTTTCCG	0.582																																																	0													116	120	118					6																	31631629		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4711.1	6p21.3	2013-01-28	2010-11-24	2010-11-24	ENSG00000204438	ENSG00000204438		"Ankyrin repeat domain containing", "G patch domain containing"	13920	protein-coding gene	gene with protein product	"G patch domain containing 10", "ankyrin repeat domain 59"	142610	"HLA-B associated transcript 4"	BAT4		2911734, 2813433	Standard	NM_001199237		Approved	G5, D6S54E, GPATCH10, ANKRD59	uc021yuu.1	O95872	OTTHUMG00000031174	ENST00000375906.1:c.626+1G>A	6.37:g.31631629C>T			A6NG25|B0UXA2|Q5SQ49	Splice_Site	SNP	-	e1+1	ENST00000375906.1	37	c.626+1	CCDS4711.1	6	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534668	0.27475	.	.	ENSG00000204438	ENST00000375906;ENST00000375896;ENST00000375893;ENST00000375895;ENST00000375900	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7839	0.69787	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPANK1	31739608	0.995000	0.38212	1.000000	0.80357	0.094000	0.18550	1.892000	0.39748	2.553000	0.86117	0.556000	0.70494	.	GPANK1	-	-	ENSG00000204438		0.582	GPANK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPANK1	HGNC	protein_coding	OTTHUMT00000144445.2	-	0	46	0	C	NM_033177	Intron	31631629	-1	tier1	-	no_errors	ENST00000375893	ensembl	human	known	74_37	splice_site	5.13	74	4	SNP	1.000	T	T	31631629	C	T	31631629	5	4	40	1	0	0	0	0	0	0	1	0	1324	521	18	3	451	3	BAT4	6	31631629	Splice_Site	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	2551637	31631629	139483438	100	9757											
ANKS1A	23294	genome.wustl.edu	37	chr6	34949729	34949729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaagccgtggtccaggTcctcctcgatgctggcatgg	7	8	12	14	2	0	0	0	0	0	0	4	1	3	0	5	4	2	2	5	4	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:34949729T>C	ENST00000360359.3	+	4	836	c.698T>C	c.(697-699)gTc>gCc	p.V233A	ANKS1A_ENST00000535627.1_Missense_Mutation_p.V233A	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	233					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGGTCCAGGTCCTCCTCGAT	0.562																																																	0													113	105	108					6																	34949729		2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.698T>C	6.37:g.34949729T>C	ENSP00000353518:p.Val233Ala		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.V233A	ENST00000360359.3	37	c.698	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562200	0.86335	.	.	ENSG00000064999	ENST00000544150;ENST00000360359;ENST00000535627	T;T	0.63744	-0.06;-0.06	5.96	5.96	0.96718	Ankyrin repeat-containing domain (3);	0.153257	0.29799	N	0.011169	T	0.57036	0.2026	N	0.11756	0.17	0.80722	D	1	P;D	0.69078	0.788;0.997	P;D	0.79108	0.577;0.992	T	0.67635	-0.5620	10	0.56958	D	0.05	-19.2565	16.4484	0.83959	0.0:0.0:0.0:1.0	.	233;233	B4DQW8;Q92625	.;ANS1A_HUMAN	A	233	ENSP00000353518:V233A;ENSP00000438752:V233A	ENSP00000353518:V233A	V	+	2	0	ANKS1A	35057707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.135000	0.64777	2.285000	0.76669	0.533000	0.62120	GTC	ANKS1A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000064999		0.562	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1		0	36	0	T	XM_166478		34949729	1			no_errors	ENST00000360359	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	C	C	34949729	T	C	34949729	3	2	40	1	0	0	0	0	1	0	0	0	688	1667	58	4	712	4	ANKS1A	6	34949729	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	3318100	34949729	136165338	101	9758											
TEAD3	7005	genome.wustl.edu	37	chr6	35443840	35443840	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaggcggggttcgtctgGccgatgtgcacaaacaggtg	9	7	17	8	3	1	1	0	0	1	1	2	3	1	1	1	5	2	2	1	5	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:35443840G>T	ENST00000402886.3	-	8	729	c.576C>A	c.(574-576)ggC>ggA	p.G192G	TEAD3_ENST00000338863.7_Silent_p.G252G			Q99594	TEAD3_HUMAN	TEA domain family member 3	252	Pro-rich.|Transcriptional activation. {ECO:0000255}.				female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GGTTCGTCTGGCCGATGTGCA	0.597																																																	0													38	38	38					6																	35443840		1933	4169	6102	SO:0001819	synonymous_variant	0			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.576C>A	6.37:g.35443840G>T			O95910|Q5BJG7|Q8N6Y4	Silent	SNP	pfam_TEA/ATTS,pirsf_TEF	p.G192	ENST00000402886.3	37	c.576		6																																																																																			TEAD3	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000007866		0.597	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	TEAD3	HGNC	protein_coding	OTTHUMT00000316961.2		0	57	0	G			35443840	-1			no_errors	ENST00000402886	ensembl	human	novel	74_37	silent	6.33	74	5	SNP	1.000	T	T	35443840	G	T	35443840	2	4	40	1	0	0	0	0	0	0	0	1	15787	1190	42	3		3	TEAD3	6	35443840	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	494111	35443840	135671227	102	9759											
RPL7L1	285855	genome.wustl.edu	37	chr6	42848666	42848666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttatcaagccctcaaaGccacccaggcaaagcaggca	14	4	9	14	0	2	0	2	0	0	0	2	0	2	0	3	3	3	4	3	3	4	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:42848666G>A	ENST00000493763.1	+	2	385	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	RPL7L1_ENST00000602561.1_Missense_Mutation_p.A28T|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000424341.2_Missense_Mutation_p.A28T|RPL7L1_ENST00000304734.5_Missense_Mutation_p.A28T	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	28						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			AGCCCTCAAAGCCACCCAGGC	0.408																																																	0													37	42	40					6																	42848666		2202	4299	6501	SO:0001583	missense	0				CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"L ribosomal proteins"	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.82G>A	6.37:g.42848666G>A	ENSP00000418221:p.Ala28Thr		A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.A28T	ENST00000493763.1	37	c.82	CCDS4873.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.293835	0.95546	.	.	ENSG00000146223	ENST00000493763;ENST00000304734;ENST00000424341	.	.	.	4.92	4.92	0.64577	Ribosomal protein L30, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82531	0.5057	M	0.91561	3.22	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	D	0.84701	0.0728	9	0.46703	T	0.11	.	15.9599	0.79923	0.0:0.0:1.0:0.0	.	28;28	B7Z652;Q6DKI1	.;RL7L_HUMAN	T	28	.	ENSP00000346063:A28T	A	+	1	0	RPL7L1	42956644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.821000	0.75272	2.447000	0.82792	0.655000	0.94253	GCC	RPL7L1	-	pfam_Ribosomal_L30_N,tigrfam_Ribosomal_L7_euk	ENSG00000146223		0.408	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7L1	HGNC	protein_coding	OTTHUMT00000314417.1	-	0	90	0	G	XM_209769		42848666	1	tier1	-	no_errors	ENST00000304734	ensembl	human	known	74_37	missense	36.76	129	75	SNP	1.000	A	A	42848666	G	A	42848666	3	1	40	1	0	0	0	0	1	0	0	0	13646	971	34	3	88	3	RPL7L1	6	42848666	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	7404826	42848666	128266401	103	9760											
GTPBP2	54676	genome.wustl.edu	37	chr6	43594099	43594099	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagccgccacttcatttGtgtcaccaggtgctcaaagc	8	10	10	13	1	3	0	3	0	0	0	3	1	3	1	3	2	3	1	3	2	1	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:43594099G>A	ENST00000307126.5	-	3	261	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACTTCATTTGTGTCACCAGG	0.557																																					GBM(116;405 1620 28302 32150 44768)												0													76	68	71					6																	43594099		2203	4300	6503	SO:0001587	stop_gained	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.262C>T	6.37:g.43594099G>A	ENSP00000303997:p.Gln88*			Nonsense_Mutation	SNP	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.Q88*	ENST00000307126.5	37	c.262	CCDS4903.1	6	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782152	0.90282	.	.	ENSG00000172432	ENST00000307126;ENST00000452781	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.1551	18.7928	0.91982	0.0:0.0:1.0:0.0	.	.	.	.	X	88;80	.	ENSP00000303997:Q88X	Q	-	1	0	GTPBP2	43702077	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.563000	0.98148	2.426000	0.82243	0.561000	0.74099	CAA	GTPBP2	-	NULL	ENSG00000172432		0.557	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1	-	0	55	0	G			43594099	-1	tier1	-	no_errors	ENST00000307126	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	A	A	43594099	G	A	43594099	4	1	40	1	0	0	0	0	0	1	0	0	6907	1386	48	3	1586	3	GTPBP2	6	43594099	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	745433	43594099	127520968	104	9761											
PKHD1	5314	genome.wustl.edu	37	chr6	51613257	51613257	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtataggcctgaccctctaAatctatgccatggccagctg	10	10	9	12	0	2	1	0	1	2	0	2	1	2	1	4	2	2	2	4	2	5	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:51613257A>C	ENST00000371117.3	-	58	9432	c.9157T>G	c.(9157-9159)Tta>Gta	p.L3053V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L3053V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3053					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGACCCTCTAAATCTATGCCA	0.502																																																	0													91	83	85					6																	51613257		2203	4300	6503	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9157T>G	6.37:g.51613257A>C	ENSP00000360158:p.Leu3053Val		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.L3053V	ENST00000371117.3	37	c.9157	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	A	10.79	1.450890	0.26074	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.80994	-1.44;-1.24	5.86	-1.39	0.08997	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.215868	0.33057	N	0.005334	T	0.43590	0.1254	L	0.28115	0.83	0.24253	N	0.995316	B;B;B	0.30482	0.281;0.011;0.145	B;B;B	0.36092	0.217;0.033;0.141	T	0.44772	-0.9306	10	0.25106	T	0.35	.	2.7845	0.05370	0.4917:0.1152:0.2862:0.107	.	3053;3053;3053	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	3053	ENSP00000360158:L3053V;ENSP00000341097:L3053V	ENSP00000341097:L3053V	L	-	1	2	PKHD1	51721216	0.974000	0.33945	0.994000	0.49952	0.792000	0.44763	0.104000	0.15313	-0.109000	0.12044	0.533000	0.62120	TTA	PKHD1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000170927		0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0	33	0	A	NM_138694		51613257	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	missense	37.04	34	20	SNP	0.968	C	C	51613257	A	C	51613257	3	2	40	1	0	0	0	0	1	0	0	0	12010	11	1	4	3146	4	PKHD1	6	51613257	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	8019158	51613257	119501810	105	9762											
EYS	346007	genome.wustl.edu	37	chr6	65301235	65301235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggtgcagagctgatgagtTtaagatggttacctgtttag	9	13	13	6	1	0	4	0	2	0	2	0	4	0	4	2	2	3	5	2	2	3	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:65301235T>G	ENST00000370621.3	-	26	5051	c.4525A>C	c.(4525-4527)Aac>Cac	p.N1509H	EYS_ENST00000503581.1_Missense_Mutation_p.N1509H|EYS_ENST00000370616.2_Missense_Mutation_p.N1509H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1509					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTGATGAGTTTAAGATGGTT	0.418																																																	0													40	35	37					6																	65301235		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4525A>C	6.37:g.65301235T>G	ENSP00000359655:p.Asn1509His		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1509H	ENST00000370621.3	37	c.4525		6	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629356	0.46944	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84070	-1.8;-1.78;-1.78	5.84	3.41	0.39046	.	.	.	.	.	T	0.41766	0.1173	N	0.08118	0	0.21355	N	0.999717	B;B	0.29508	0.246;0.062	B;B	0.28139	0.086;0.023	T	0.31586	-0.9938	9	0.15952	T	0.53	.	6.2714	0.20956	0.0:0.1336:0.1386:0.7278	.	1509;1509	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	1509	ENSP00000424243:N1509H;ENSP00000359655:N1509H;ENSP00000359650:N1509H	ENSP00000359650:N1509H	N	-	1	0	EYS	65357956	0.988000	0.35896	0.998000	0.56505	0.971000	0.66376	0.599000	0.24089	1.032000	0.39892	0.482000	0.46254	AAC	EYS	-	NULL	ENSG00000188107		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	34	0	T	XM_294050		65301235	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	74.07	7	20	SNP	0.369	G	G	65301235	T	G	65301235	3	3	40	1	0	0	0	0	1	0	0	0	5348	1841	64	4	4826	4	EYS	6	65301235	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	13687978	65301235	105813832	106	9763											
EYS	346007	genome.wustl.edu	37	chr6	66200490	66200490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatgcattttttacctgAaaattgctcatcacattcac	13	15	3	10	0	3	1	3	1	0	0	3	1	3	1	1	0	3	2	1	0	4	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:66200490A>G	ENST00000370621.3	-	5	1385	c.859T>C	c.(859-861)Tca>Cca	p.S287P	EYS_ENST00000503581.1_Missense_Mutation_p.S287P|EYS_ENST00000393380.2_Missense_Mutation_p.S287P|EYS_ENST00000370616.2_Missense_Mutation_p.S287P|EYS_ENST00000370618.3_Missense_Mutation_p.S287P|EYS_ENST00000342421.5_Missense_Mutation_p.S287P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	287	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTTTACCTGAAAATTGCTCA	0.284																																																	0													59	54	56					6																	66200490		2203	4294	6497	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.859T>C	6.37:g.66200490A>G	ENSP00000359655:p.Ser287Pro		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S287P	ENST00000370621.3	37	c.859		6	.	.	.	.	.	.	.	.	.	.	A	7.459	0.644321	0.14451	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	4.54	-1.86	0.07760	.	.	.	.	.	T	0.79964	0.4537	N	0.24115	0.695	0.09310	N	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.69142	0.931;0.962;0.916	T	0.71593	-0.4546	9	0.54805	T	0.06	.	10.0532	0.42228	0.3724:0.0:0.0:0.6276	.	287;287;287	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	P	287	ENSP00000424243:S287P;ENSP00000359655:S287P;ENSP00000359650:S287P;ENSP00000377042:S287P;ENSP00000341818:S287P;ENSP00000359652:S287P	ENSP00000341818:S287P	S	-	1	0	EYS	66257211	1.000000	0.71417	0.000000	0.03702	0.240000	0.25518	1.840000	0.39230	-0.110000	0.12022	0.533000	0.62120	TCA	EYS	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000188107		0.284	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	37	0	A	XM_294050		66200490	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	84.78	7	39	SNP	0.063	G	G	66200490	A	G	66200490	3	3	40	1	0	0	0	0	1	0	0	0	5348	246	9	4	8693	4	EYS	6	66200490	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	899255	66200490	104914577	107	9764											
EYS	346007	genome.wustl.edu	37	chr6	66205228	66205228	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcttccaccaattgccGtctacatgtttttccattta	8	17	3	13	1	2	0	0	0	2	0	4	0	4	0	5	0	2	1	5	0	3	8			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:66205228G>T	ENST00000370621.3	-	4	602	c.76C>A	c.(76-78)Cgg>Agg	p.R26R	EYS_ENST00000503581.1_Silent_p.R26R|EYS_ENST00000393380.2_Silent_p.R26R|EYS_ENST00000370616.2_Silent_p.R26R|EYS_ENST00000370618.3_Silent_p.R26R|EYS_ENST00000342421.5_Silent_p.R26R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	26					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACCAATTGCCGTCTACATGTT	0.398																																																	0													87	86	86					6																	66205228		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.76C>A	6.37:g.66205228G>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R26	ENST00000370621.3	37	c.76		6																																																																																			EYS	-	NULL	ENSG00000188107		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0	20	0	G	XM_294050		66205228	-1			no_errors	ENST00000370616	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.000	T	T	66205228	G	T	66205228	2	4	40	1	0	0	0	0	0	0	0	1	5348	1144	40	2		2	EYS	6	66205228	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	4738	66205228	104909839	108	9765											
COL12A1	1303	genome.wustl.edu	37	chr6	75804854	75804854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctccaggttttcctggCttcccacttggtcctgtgac	4	15	9	13	0	1	2	0	2	1	0	5	2	4	2	4	3	0	2	4	3	0	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:75804854C>A	ENST00000322507.8	-	60	8928	c.8619G>T	c.(8617-8619)aaG>aaT	p.K2873N	COL12A1_ENST00000416123.2_Missense_Mutation_p.K2797N|COL12A1_ENST00000483888.2_Missense_Mutation_p.K2869N|COL12A1_ENST00000345356.6_Missense_Mutation_p.K1709N|COL12A1_ENST00000511023.1_5'UTR	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2873	Collagen-like 3.|Triple-helical region (COL2) with 1 imperfection.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTTTTCCTGGCTTCCCACTTG	0.493																																																	0													87	84	85					6																	75804854		1913	4137	6050	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8619G>T	6.37:g.75804854C>A	ENSP00000325146:p.Lys2873Asn		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.K2873N	ENST00000322507.8	37	c.8619	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527290	0.64860	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38;-3.37	5.62	0.655	0.17839	.	0.104529	0.64402	D	0.000005	D	0.90648	0.7067	L	0.28740	0.885	0.40347	D	0.979097	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88801	0.3285	10	0.48119	T	0.1	.	10.986	0.47523	0.0:0.414:0.0:0.586	.	1709;2873	Q99715-2;Q99715	.;COCA1_HUMAN	N	2873;511;2797;1709;2797;2869	ENSP00000325146:K2873N;ENSP00000399812:K511N;ENSP00000305147:K1709N;ENSP00000412864:K2797N;ENSP00000421216:K2869N	ENSP00000325146:K2873N	K	-	3	2	COL12A1	75861574	0.993000	0.37304	0.998000	0.56505	0.953000	0.61014	0.194000	0.17135	-0.104000	0.12154	-0.484000	0.04775	AAG	COL12A1	-	pfam_Collagen	ENSG00000111799		0.493	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	36	0	C	NM_004370		75804854	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	84.21	6	32	SNP	1.000	A	A	75804854	C	A	75804854	3	1	40	1	0	0	0	0	1	0	0	0	3676	796	28	3	600	3	COL12A1	6	75804854	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	9599626	75804854	95310213	109	9766											
EPB41L2	2037	genome.wustl.edu	37	chr6	131247763	131247763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttctgctcagggctttcCtgaaacaaaagtccaaagta	13	11	7	10	0	2	1	1	1	1	0	4	1	4	1	2	1	2	3	2	1	5	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr6:131247763C>A	ENST00000337057.3	-	4	973	c.792G>T	c.(790-792)caG>caT	p.Q264H	EPB41L2_ENST00000530481.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000527659.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000368128.2_Missense_Mutation_p.Q264H|EPB41L2_ENST00000445890.2_Missense_Mutation_p.Q264H|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000529208.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000392427.3_Missense_Mutation_p.Q264H|EPB41L2_ENST00000528282.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000525271.1_Missense_Mutation_p.Q264H|EPB41L2_ENST00000527411.1_Missense_Mutation_p.Q264H	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	264	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGGGCTTTCCTGAAACAAAA	0.308																																																	0													114	112	113					6																	131247763		2203	4300	6503	SO:0001583	missense	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.792G>T	6.37:g.131247763C>A	ENSP00000338481:p.Gln264His		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.Q264H	ENST00000337057.3	37	c.792	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	4.212	0.038041	0.08148	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	T;T;T;T;T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	5.17	1.92	0.25849	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.786268	0.12000	N	0.508920	T	0.68906	0.3052	M	0.62154	1.92	0.35808	D	0.823643	P;P;P;D;P	0.52996	0.863;0.655;0.772;0.957;0.655	P;B;P;P;B	0.61533	0.546;0.34;0.459;0.89;0.254	T	0.65689	-0.6107	10	0.15499	T	0.54	.	2.3472	0.04274	0.3942:0.2764:0.0:0.3294	.	264;264;264;264;264	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	H	264	ENSP00000434308:Q264H;ENSP00000434576:Q264H;ENSP00000402041:Q264H;ENSP00000338481:Q264H;ENSP00000376222:Q264H;ENSP00000357110:Q264H;ENSP00000436348:Q264H;ENSP00000432803:Q264H;ENSP00000431988:Q264H;ENSP00000431647:Q264H;ENSP00000436641:Q264H	ENSP00000338481:Q264H	Q	-	3	2	EPB41L2	131289456	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	1.139000	0.31504	0.566000	0.29273	-0.314000	0.08810	CAG	EPB41L2	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000079819		0.308	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	-	0	55	0	C			131247763	-1	tier1	-	no_errors	ENST00000337057	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	131247763	C	A	131247763	3	1	40	1	0	0	0	0	1	0	0	0	5169	680	24	3	2289	3	EPB41L2	6	131247763	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	55442909	131247763	39867304	110	9767											
ABCB5	340273	genome.wustl.edu	37	chr7	20766683	20766683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagcaactgaagctttggaGaatatacgtactatagtgtc	14	12	9	6	1	0	2	0	1	0	1	1	3	0	2	0	1	5	3	0	1	9	7			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:20766683G>A	ENST00000404938.2	+	22	3298	c.2646G>A	c.(2644-2646)gaG>gaA	p.E882E	ABCB5_ENST00000258738.6_Silent_p.E437E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	882	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGCTTTGGAGAATATACGTA	0.328																																																	0													93	98	96					7																	20766683		2203	4300	6503	SO:0001819	synonymous_variant	0			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2646G>A	7.37:g.20766683G>A			A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E437	ENST00000404938.2	37	c.1311	CCDS55090.1	7																																																																																			ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000004846		0.328	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	-	0	23	0	G	NM_178559		20766683	1	tier1	-	no_errors	ENST00000258738	ensembl	human	known	74_37	silent	20.22	71	18	SNP	1.000	A	A	20766683	G	A	20766683	2	1	40	1	0	0	0	0	0	0	0	1	44	933	33	3		3	ABCB5	7	20766683	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		20766683	138371980	111	9768											
AOAH	313	genome.wustl.edu	37	chr7	36552785	36552785	+	3'UTR	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgacgtggcagcccccAtagggttgtggaatgagttt	7	11	14	9	1	0	2	0	2	0	0	0	3	0	3	3	3	1	3	3	3	2	3	rs116009588	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:36552785A>T	ENST00000258749.5	-	0	2200				AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000538464.1_3'UTR|AOAH_ENST00000431169.1_Nonsense_Mutation_p.Y640*	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GGCAGCCCCCATAGGGTTGTG	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.*73T>A	7.37:g.36552785A>T			A4D1Y5|B7Z490|Q53F13	Nonsense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.Y640*	ENST00000258749.5	37	c.1920	CCDS5448.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	34|34	5.360179|5.360179	0.95877|0.95877	.|.	.|.	ENSG00000136250|ENSG00000136250	ENST00000544647|ENST00000431169	.|.	.|.	.|.	3.11|3.11	-3.8|-3.8	0.04307|0.04307	.|.	.|.	.|.	.|.	.|.	T|.	0.11537|.	0.0281|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30297|.	-0.9983|.	5|.	0.87932|0.07030	D|T	0|0.85	.|.	3.0574|3.0574	0.06189|0.06189	0.3349:0.0:0.3655:0.2996|0.3349:0.0:0.3655:0.2996	.|.	.|.	.|.	.|.	R|X	640|640	.|.	ENSP00000441635:W640R|ENSP00000405683:Y640X	W|Y	-|-	1|3	0|2	AOAH|AOAH	36519310|36519310	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-0.113000|-0.113000	0.10774|0.10774	-0.788000|-0.788000	0.04504|0.04504	0.449000|0.449000	0.29647|0.29647	TGG|TAT	AOAH	-	NULL	ENSG00000136250		0.552	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	-	0	47	0	A	NM_001637		36552785	-1	tier1	-	no_errors	ENST00000431169	ensembl	human	putative	74_37	nonsense	71.28	27	67	SNP	0.000	T	T	36552785	A	T	36552785	1	4	40	0	1	0	0	0	0	0	0	0	726	224	8	5		5	AOAH	7	36552785	3'UTR	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	15786102	36552785	122585878	112	9769											
INHBA	3624	genome.wustl.edu	37	chr7	41730129	41730129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcgaagtgcagcgtctTcctggctgttcctgaagatg	8	12	11	10	2	2	2	0	1	2	1	5	3	4	2	2	1	2	3	2	1	3	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:41730129T>C	ENST00000242208.4	-	3	646	c.400A>G	c.(400-402)Aag>Gag	p.K134E	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.K134E|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	134					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCAGCGTCTTCCTGGCTGTT	0.488										TSP Lung(11;0.080)																																							0													38	34	36					7																	41730129		2203	4300	6503	SO:0001583	missense	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"Endogenous ligands"	6066	protein-coding gene	gene with protein product		147290	"inhibin, beta A (activin A, activin AB alpha polypeptide)"			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.400A>G	7.37:g.41730129T>C	ENSP00000242208:p.Lys134Glu		Q14599	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.K134E	ENST00000242208.4	37	c.400	CCDS5464.1	7	.	.	.	.	.	.	.	.	.	.	.	5.737	0.320361	0.10845	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	T;T	0.64803	-0.12;-0.12	6.06	6.06	0.98353	Transforming growth factor-beta, N-terminal (1);	0.324853	0.38326	N	0.001735	T	0.57140	0.2033	L	0.47716	1.5	0.48632	D	0.999681	B	0.27013	0.166	B	0.28916	0.096	T	0.52704	-0.8540	10	0.19147	T	0.46	-24.9442	16.6093	0.84858	0.0:0.0:0.0:1.0	.	134	P08476	INHBA_HUMAN	E	134	ENSP00000242208:K134E;ENSP00000397197:K134E	ENSP00000242208:K134E	K	-	1	0	INHBA	41696654	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.834000	0.55798	2.324000	0.78689	0.533000	0.62120	AAG	INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.488	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	-	0	27	0	T			41730129	-1	tier1	-	no_errors	ENST00000242208	ensembl	human	known	74_37	missense	37.04	51	30	SNP	1.000	C	C	41730129	T	C	41730129	3	2	40	1	0	0	0	0	1	0	0	0	7768	1792	62	4	884	4	INHBA	7	41730129	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	5177344	41730129	117408534	113	9770											
ABCA13	154664	genome.wustl.edu	37	chr7	48278946	48278946	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgccaccctaagtggTcagaagccaaaaactatctt	13	8	9	11	0	2	1	1	0	1	1	2	2	2	1	3	2	3	1	3	2	5	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:48278946T>G	ENST00000435803.1	+	9	1030	c.1006T>G	c.(1006-1008)Tca>Gca	p.S336A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	336					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTAAGTGGTCAGAAGCCAA	0.507																																																	0													71	75	74					7																	48278946		2038	4190	6228	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1006T>G	7.37:g.48278946T>G	ENSP00000411096:p.Ser336Ala		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S336A	ENST00000435803.1	37	c.1006	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	15.03	2.711243	0.48517	.	.	ENSG00000179869	ENST00000435803	D	0.90620	-2.7	4.87	3.72	0.42706	.	0.000000	0.41500	D	0.000862	D	0.83069	0.5174	L	0.32530	0.975	0.80722	D	1	B	0.33135	0.399	B	0.30495	0.116	T	0.79921	-0.1599	10	0.66056	D	0.02	.	7.065	0.25147	0.0:0.1011:0.0:0.8989	.	336	Q86UQ4	ABCAD_HUMAN	A	336	ENSP00000411096:S336A	ENSP00000411096:S336A	S	+	1	0	ABCA13	48249492	0.747000	0.28283	0.992000	0.48379	0.861000	0.49209	0.222000	0.17699	0.883000	0.36040	0.533000	0.62120	TCA	ABCA13	-	NULL	ENSG00000179869		0.507	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	39	0	T	NM_152701		48278946	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	45.45	36	30	SNP	1.000	G	G	48278946	T	G	48278946	3	3	40	1	0	0	0	0	1	0	0	0	31	1667	58	4	869	4	ABCA13	7	48278946	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	6548817	48278946	110859717	114	9771											
WBSCR17	64409	genome.wustl.edu	37	chr7	70597949	70597949	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccaacctcagcgcgcAcagcgccagccccatccagg	8	3	12	18	3	1	0	1	0	0	0	2	0	2	0	6	3	4	1	6	3	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:70597949A>G	ENST00000333538.5	+	1	795	c.161A>G	c.(160-162)cAc>cGc	p.H54R		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	54					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTCAGCGCGCACAGCGCCAGC	0.692																																																	0													21	21	21					7																	70597949		2194	4294	6488	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.161A>G	7.37:g.70597949A>G	ENSP00000329654:p.His54Arg		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.H54R	ENST00000333538.5	37	c.161	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	A	6.897	0.535088	0.13188	.	.	ENSG00000185274	ENST00000333538	T	0.52295	0.67	4.85	2.33	0.28932	.	0.629307	0.15106	N	0.280226	T	0.27832	0.0685	N	0.22421	0.69	0.29770	N	0.834838	B	0.02656	0.0	B	0.04013	0.001	T	0.19679	-1.0298	10	0.16420	T	0.52	.	6.3857	0.21559	0.72:0.1391:0.1409:0.0	.	54	Q6IS24	GLTL3_HUMAN	R	54	ENSP00000329654:H54R	ENSP00000329654:H54R	H	+	2	0	WBSCR17	70235885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.687000	0.46976	0.840000	0.34995	0.460000	0.39030	CAC	WBSCR17	-	NULL	ENSG00000185274		0.692	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	26	0	A	NM_022479		70597949	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	75.00	3	9	SNP	1.000	G	G	70597949	A	G	70597949	3	3	40	1	0	0	0	0	1	0	0	0	17313	159	6	4	163	4	WBSCR17	7	70597949	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	22319003	70597949	88540714	115	9772											
WBSCR17	64409	genome.wustl.edu	37	chr7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaaagactggtgggacGccggagacccttctctcccc	8	6	10	17	2	1	2	0	0	1	2	3	4	2	3	6	3	0	0	6	3	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:70886066G>A	ENST00000333538.5	+	5	1571	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGGTGGGACGCCGGAGACCC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)											56	58	57					7																	70886066		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.937G>A	7.37:g.70886066G>A	ENSP00000329654:p.Ala313Thr		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A313T	ENST00000333538.5	37	c.937	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548491	0.65311	.	.	ENSG00000185274	ENST00000333538	T	0.59364	0.27	5.32	5.32	0.75619	.	0.053435	0.64402	D	0.000001	T	0.45955	0.1368	N	0.17278	0.47	0.80722	D	1	P	0.42973	0.796	B	0.41666	0.363	T	0.43393	-0.9394	10	0.33141	T	0.24	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	313	Q6IS24	GLTL3_HUMAN	T	313	ENSP00000329654:A313T	ENSP00000329654:A313T	A	+	1	0	WBSCR17	70524002	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	GCC	WBSCR17	-	NULL	ENSG00000185274		0.597	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1		0	70	0	G	NM_022479		70886066	1			no_errors	ENST00000333538	ensembl	human	known	74_37	missense	5.41	34	2	SNP	1.000	A	A	70886066	G	A	70886066	3	1	40	1	0	0	0	0	1	0	0	0	17313	1087	38	1	955	1	WBSCR17	7	70886066	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	288117	70886066	88252597	116	9773											
DTX2	113878	genome.wustl.edu	37	chr7	76131710	76131710	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctagctgtgggccacctCaccaagtgcagccatgcctt	7	9	9	16	0	1	0	1	0	0	0	2	0	2	0	6	1	4	2	6	1	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:76131710C>A	ENST00000324432.5	+	9	1836	c.1326C>A	c.(1324-1326)ctC>ctA	p.L442L	DTX2_ENST00000413936.2_Silent_p.L442L|DTX2_ENST00000446820.2_Silent_p.L395L|DTX2_ENST00000430490.2_Silent_p.L442L|DTX2_ENST00000307569.8_Silent_p.L395L|DTX2_ENST00000446600.1_Silent_p.L351L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	442					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TGGGCCACCTCACCAAGTGCA	0.622																																																	0													90	62	71					7																	76131710		2200	4298	6498	SO:0001819	synonymous_variant	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1326C>A	7.37:g.76131710C>A			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L442	ENST00000324432.5	37	c.1326	CCDS5587.1	7																																																																																			DTX2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000091073		0.622	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0	112	0	C			76131710	1	tier1	-	no_errors	ENST00000324432	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.034	A	A	76131710	C	A	76131710	2	1	40	1	0	0	0	0	0	0	0	1	4808	813	29	3		3	DTX2	7	76131710	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	5245644	76131710	83006953	117	9774											
PION	54103	genome.wustl.edu	37	chr7	76982276	76982276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttactgtattccaagtgagCactgaggaatgtggcaatag	12	11	11	7	0	0	2	0	2	0	0	1	3	1	3	1	2	2	3	1	2	6	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:76982276C>T	ENST00000257626.7	-	18	1554	c.1476G>A	c.(1474-1476)gtG>gtA	p.V492V		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	492					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TCCAAGTGAGCACTGAGGAAT	0.383																																																	0													225	192	203					7																	76982276		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1476G>A	7.37:g.76982276C>T			A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	NULL	p.V492	ENST00000257626.7	37	c.1476	CCDS34672.2	7																																																																																			GSAP	-	NULL	ENSG00000186088		0.383	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2		0	24	0	C	NM_017439		76982276	-1			no_errors	ENST00000257626	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.946	T	T	76982276	C	T	76982276	2	4	40	1	0	0	0	0	0	0	0	1	11973	697	25	3		3	PION	7	76982276	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	850566	76982276	82156387	118	9775											
MUC17	140453	genome.wustl.edu	37	chr7	100680772	100680773	+	Missense_Mutation	DNP	TC	TC	AA																															tctactgaaggcagttcatcTcctacaactgcaggaggtac																										TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:100680772_100680773TC>AA	ENST00000306151.4	+	3	6139_6140	c.6075_6076TC>AA	c.(6073-6078)tcTCct>tcAAct	p.P2026T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2026	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P2026S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAGTTCATCTCCTACAACTGC	0.525																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	Exception_encountered	7.37:g.100680772_100680773delinsAA	ENSP00000302716:p.Pro2026Thr		O14761|Q685J2|Q8TDH7	Silent|Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.S2025|p.P2026T	ENST00000306151.4	37	c.6075|c.6076	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.525	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	59|60	0	T|C	NM_001040105		100680772|100680773	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	silent|missense	41.84|42.27	57|56	41	SNP	0.264|0.207	A	AA	100680773	TC	AA	100680772	3	1	40	1	0	0	0	0	1	0	0	0	10012	1538	54	5	6085	5	MUC17	7	100680772	Missense_Mutation	DNP	TC	TCGA-JY-A6FH-01A-11D-A33E-09	23698496	100680772	58457891	119	9776											
RELN	5649	genome.wustl.edu	37	chr7	103141201	103141201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacccttaccttcagagtGtgggtcaagtagcagtttgg	8	14	11	8	0	2	1	2	0	0	1	2	1	2	1	2	2	3	3	2	2	4	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:103141201G>T	ENST00000428762.1	-	53	8817	c.8658C>A	c.(8656-8658)caC>caA	p.H2886Q	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.H2886Q|RELN_ENST00000424685.2_Missense_Mutation_p.H2886Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2886					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTTCAGAGTGTGGGTCAAGT	0.488																																					NSCLC(146;835 1944 15585 22231 52158)												0													205	154	171					7																	103141201		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8658C>A	7.37:g.103141201G>T	ENSP00000392423:p.His2886Gln		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.H2886Q	ENST00000428762.1	37	c.8658	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243403	0.22796	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.20738	2.05;2.05;2.05	5.36	3.56	0.40772	Neuraminidase (2);	0.217219	0.48286	D	0.000193	T	0.14657	0.0354	L	0.46157	1.445	0.29824	N	0.830569	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.22382	-1.0218	10	0.16896	T	0.51	.	3.9909	0.09537	0.1446:0.1791:0.5589:0.1174	.	2886;2886	P78509-2;P78509	.;RELN_HUMAN	Q	2886;2886;2886;403;2886	ENSP00000392423:H2886Q;ENSP00000345694:H2886Q;ENSP00000388446:H2886Q	ENSP00000345694:H2886Q	H	-	3	2	RELN	102928437	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	0.520000	0.22878	0.640000	0.30582	0.655000	0.94253	CAC	RELN	-	superfamily_Sialidases	ENSG00000189056		0.488	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	83	0	G	NM_005045		103141201	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	103141201	G	T	103141201	3	4	40	1	0	0	0	0	1	0	0	0	13265	1368	48	3	1776	3	RELN	7	103141201	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2460429	103141201	55997462	120	9777											
LAMB4	22798	genome.wustl.edu	37	chr7	107696189	107696189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaggtctttgaagtctgCctcacagacaggcagggtct	8	11	12	10	0	5	3	1	2	4	1	5	3	5	3	1	3	1	1	1	3	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:107696189C>A	ENST00000388781.3	-	25	3726	c.3643G>T	c.(3643-3645)Gca>Tca	p.A1215S	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1215S|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1215S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1215	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGAAGTCTGCCTCACAGACA	0.448																																																	0													78	78	78					7																	107696189		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3643G>T	7.37:g.107696189C>A	ENSP00000373433:p.Ala1215Ser		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.A1215S	ENST00000388781.3	37	c.3643	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	8.656	0.899491	0.17686	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32753	1.44;1.44;1.97;1.55	5.02	2.27	0.28462	.	0.620952	0.13277	N	0.400087	T	0.14098	0.0341	N	0.24115	0.695	0.09310	N	0.999999	B;P	0.35077	0.203;0.483	B;B	0.29524	0.103;0.057	T	0.20009	-1.0288	10	0.06365	T	0.9	.	6.6745	0.23085	0.0:0.4866:0.0:0.5134	.	1215;1215	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	S	1215;1215;241;1215	ENSP00000205386:A1215S;ENSP00000373433:A1215S;ENSP00000416562:A241S;ENSP00000373432:A1215S	ENSP00000205386:A1215S	A	-	1	0	LAMB4	107483425	0.186000	0.23225	0.099000	0.21106	0.972000	0.66771	0.521000	0.22893	0.317000	0.23160	0.655000	0.94253	GCA	LAMB4	-	NULL	ENSG00000091128		0.448	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	61	0	C	XM_209857		107696189	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.079	A	A	107696189	C	A	107696189	3	1	40	1	0	0	0	0	1	0	0	0	8641	739	26	3	1682	3	LAMB4	7	107696189	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	4554988	107696189	51442474	121	9778											
EZH2	2146	genome.wustl.edu	37	chr7	148525883	148525883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctttcttcaggatCgtctccatcatcatcatcgt	6	18	4	13	2	8	0	4	0	4	0	12	1	8	1	1	1	0	0	1	1	0	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:148525883C>A	ENST00000460911.1	-	6	662	c.574G>T	c.(574-576)Gat>Tat	p.D192Y	EZH2_ENST00000476773.1_Missense_Mutation_p.D183Y|EZH2_ENST00000483967.1_Missense_Mutation_p.D183Y|EZH2_ENST00000320356.2_Missense_Mutation_p.D192Y|EZH2_ENST00000478654.1_Missense_Mutation_p.D183Y|EZH2_ENST00000536783.1_Missense_Mutation_p.D83Y|EZH2_ENST00000541220.1_Missense_Mutation_p.D183Y|EZH2_ENST00000350995.2_Missense_Mutation_p.D153Y			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	192	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.D192N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTTCAGGATCGTCTCcatca	0.388			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											198	166	177					7																	148525883		2203	4300	6503	SO:0001583	missense	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.574G>T	7.37:g.148525883C>A	ENSP00000419711:p.Asp192Tyr		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.D192Y	ENST00000460911.1	37	c.574	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799948	0.70567	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D;T	0.94184	-3.32;-3.35;-3.35;-3.37;-3.32;-3.32;-3.37;0.89	5.69	3.77	0.43336	SANT domain, DNA binding (1);	0.202492	0.33253	N	0.005116	D	0.88588	0.6477	L	0.29908	0.895	0.44061	D	0.996807	P;B;B;B;B;B	0.52577	0.954;0.001;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.41466	0.358;0.005;0.014;0.002;0.005;0.004	D	0.88465	0.3058	10	0.46703	T	0.11	.	14.4606	0.67445	0.2676:0.7324:0.0:0.0	.	192;183;183;192;153;192	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	Y	183;192;192;153;183;183;183;83	ENSP00000417062:D183Y;ENSP00000320147:D192Y;ENSP00000419711:D192Y;ENSP00000223193:D153Y;ENSP00000443219:D183Y;ENSP00000419050:D183Y;ENSP00000419856:D183Y;ENSP00000439305:D83Y	ENSP00000320147:D192Y	D	-	1	0	EZH2	148156816	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	5.208000	0.65203	1.348000	0.45733	0.585000	0.79938	GAT	EZH2	-	smart_SANT/Myb	ENSG00000106462		0.388	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1		0	22	0	C	NM_004456		148525883	-1			no_errors	ENST00000320356	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	148525883	C	A	148525883	3	1	40	1	0	0	0	0	1	0	0	0	5350	884	31	2	1741	2	EZH2	7	148525883	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	40829694	148525883	10612780	122	9779											
ZNF425	155054	genome.wustl.edu	37	chr7	148809229	148809229	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaatccatcttactcacCaaaacatagcaactttccag	15	11	2	13	0	2	0	1	0	1	0	4	0	4	0	3	0	4	1	3	0	7	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:148809229C>A	ENST00000378061.2	-	3	436	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	102					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTTACTCACCAAAACATAGC	0.343																																																	0													196	176	183					7																	148809229		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.304+1G>T	7.37:g.148809229C>A			B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.D102Y	ENST00000378061.2	37	c.304	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052140	0.55218	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.07688	3.17;4.9	2.82	0.925	0.19424	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	P	0.41214	0.742	B	0.26416	0.069	T	0.40421	-0.9564	9	0.59425	D	0.04	.	3.2496	0.06810	0.2568:0.5945:0.0:0.1487	.	102	Q6IV72	ZN425_HUMAN	Y	102;124	ENSP00000367300:D102Y;ENSP00000420379:D124Y	ENSP00000367300:D102Y	D	-	1	0	ZNF425	148440162	0.045000	0.20229	0.221000	0.23827	0.891000	0.51852	1.269000	0.33074	0.000000	0.14550	0.650000	0.86243	GAT	ZNF425	-	NULL	ENSG00000204947		0.343	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0	32	0	C	XM_088140	Missense_Mutation	148809229	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.030	A	A	148809229	C	A	148809229	5	1	40	1	0	0	0	0	0	0	1	0	17947	608	21	3	1962	3	ZNF425	7	148809229	Splice_Site	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	283346	148809229	10329434	123	9780											
SLC4A2	6522	genome.wustl.edu	37	chr7	150761424	150761424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggaggggaggagccaGgccgcagctatggggaggaa	9	4	20	8	2	0	0	0	0	0	0	1	5	0	5	2	8	2	2	2	8	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:150761424G>T	ENST00000485713.1	+	3	1227	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	SLC4A2_ENST00000461735.1_Missense_Mutation_p.G49C|SLC4A2_ENST00000413384.2_Missense_Mutation_p.G63C|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000392826.2_Missense_Mutation_p.G54C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	63	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGAGCCAGGCCGCAGCTA	0.642																																																	0													29	29	29					7																	150761424		2203	4300	6503	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.187G>T	7.37:g.150761424G>T	ENSP00000419412:p.Gly63Cys		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.G63C	ENST00000485713.1	37	c.187	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	g	15.13	2.743086	0.49151	.	.	ENSG00000164889	ENST00000483786;ENST00000485713;ENST00000413384;ENST00000490898;ENST00000482950;ENST00000463414;ENST00000488420;ENST00000392826;ENST00000461735	T;T;T;T;T;T;T;T;T	0.75938	0.8;-0.98;-0.98;1.38;0.81;0.8;-0.62;-0.98;-0.97	4.42	4.42	0.53409	.	0.567511	0.18169	N	0.149521	T	0.79828	0.4513	L	0.56769	1.78	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.55824	0.785;0.785;0.737	T	0.79790	-0.1655	10	0.44086	T	0.13	.	14.6019	0.68447	0.0:0.0:1.0:0.0	.	54;49;63	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	C	63;63;63;63;63;63;63;54;49	ENSP00000417808:G63C;ENSP00000419412:G63C;ENSP00000405600:G63C;ENSP00000418114:G63C;ENSP00000419379:G63C;ENSP00000418584:G63C;ENSP00000417221:G63C;ENSP00000376571:G54C;ENSP00000419164:G49C	ENSP00000376571:G54C	G	+	1	0	SLC4A2	150392357	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.729000	0.54999	2.299000	0.77371	0.454000	0.30748	GGC	SLC4A2	-	NULL	ENSG00000164889		0.642	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1		0	24	0	G	NM_003040		150761424	1			no_errors	ENST00000413384	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T	T	150761424	G	T	150761424	3	4	40	1	0	0	0	0	1	0	0	0	14699	1000	35	3	193	3	SLC4A2	7	150761424	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1952195	150761424	8377239	124	9781											
MLL3	58508	genome.wustl.edu	37	chr7	151860113	151860113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggattgatggtgaatcagGaacaaatgaaggagggccta	15	7	15	4	0	1	3	1	3	0	0	1	6	1	6	1	5	1	0	1	5	5	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr7:151860113G>T	ENST00000262189.6	-	43	10767	c.10549C>A	c.(10549-10551)Cct>Act	p.P3517T	KMT2C_ENST00000355193.2_Missense_Mutation_p.P3517T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3517					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGTGAATCAGGAACAAATGAA	0.468																																																	0													127	131	130					7																	151860113		2203	4300	6503	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10549C>A	7.37:g.151860113G>T	ENSP00000262189:p.Pro3517Thr		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P3517T	ENST00000262189.6	37	c.10549	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.507|9.507	1.104723|1.104723	0.20632|0.20632	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.89810|.	-1.94;-1.89;-2.57|.	5.51|5.51	2.74|2.74	0.32292|0.32292	.|.	0.301023|.	0.23534|.	N|.	0.047160|.	T|T	0.60766|0.60766	0.2294|0.2294	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30686|.	0.265;0.29;0.29|.	B;B;B|.	0.37091|.	0.079;0.159;0.241|.	T|T	0.54316|0.54316	-0.8312|-0.8312	10|5	0.32370|.	T|.	0.25|.	.|.	8.7848|8.7848	0.34814|0.34814	0.1355:0.1246:0.7399:0.0|0.1355:0.1246:0.7399:0.0	.|.	3517;2578;3517|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	T|Y	3517;3517;103|1022	ENSP00000262189:P3517T;ENSP00000347325:P3517T;ENSP00000410411:P103T|.	ENSP00000262189:P3517T|.	P|S	-|-	1|2	0|0	MLL3|MLL3	151491046|151491046	1.000000|1.000000	0.71417|0.71417	0.046000|0.046000	0.18839|0.18839	0.902000|0.902000	0.53008|0.53008	2.921000|2.921000	0.48852|0.48852	0.297000|0.297000	0.22615|0.22615	0.655000|0.655000	0.94253|0.94253	CCT|TCC	KMT2C	-	NULL	ENSG00000055609		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	49	0	G			151860113	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.974	T	T	151860113	G	T	151860113	3	4	40	1	0	0	0	0	1	0	0	0	9660	1174	41	3	4254	3	MLL3	7	151860113	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1098689	151860113	7278550	125	9782											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1846630	1846630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccccgatcgaaccaCgctctacagcctgatgatga	10	6	10	15	3	1	3	0	3	1	0	2	5	1	3	5	1	4	1	5	1	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:1846630C>T	ENST00000398564.1	+	15	1664	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.T530M|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.T492M|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.T555M|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.T554M|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.T516M			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	555	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GATCGAACCACGCTCTACAGC	0.637																																																	0													162	103	123					8																	1846630		2203	4300	6503	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1664C>T	8.37:g.1846630C>T	ENSP00000381571:p.Thr555Met		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.T555M	ENST00000398564.1	37	c.1664		8	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910808	0.52439	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	4.87	4.87	0.63330	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.60818	0.2298	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	T	0.68454	-0.5404	10	0.87932	D	0	-24.9349	18.0189	0.89249	0.0:1.0:0.0:0.0	.	555;516;492;530	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	M	530;492;554;516;555;555;203	ENSP00000340297:T530M;ENSP00000427909:T492M;ENSP00000431012:T554M;ENSP00000381568:T516M;ENSP00000381571:T555M;ENSP00000262112:T555M;ENSP00000427768:T203M	ENSP00000262112:T555M	T	+	2	0	ARHGEF10	1834037	1.000000	0.71417	0.032000	0.17829	0.014000	0.08584	7.098000	0.76974	2.211000	0.71520	0.650000	0.86243	ACG	ARHGEF10	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000104728		0.637	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		-	0	90	0	C			1846630	1	tier1	-	no_errors	ENST00000398564	ensembl	human	known	74_37	missense	81.25	9	39	SNP	0.991	T	T	1846630	C	T	1846630	3	4	40	1	0	0	0	0	1	0	0	0	894	536	19	1	1643	1	ARHGEF10	8	1846630	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09		1846630	144517392	126	9783											
DEFB106A	503841	genome.wustl.edu	37	chr8	7340204	7340204	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagcaataagttcttcAtttttcccgcaattgttctt	10	16	6	9	1	3	1	1	0	2	1	4	2	4	1	1	0	1	4	1	0	3	8	rs138253070	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:7340204A>G	ENST00000335479.2	-	2	137	c.120T>C	c.(118-120)aaT>aaC	p.N40N		NM_001040704.1	NP_001035794.1	Q8N104	D106A_HUMAN	defensin, beta 106B	40					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)									COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TAAGTTCTTCATTTTTCCCGC	0.413																																																	0													8	11	10					8																	7340204		1657	3516	5173	SO:0001819	synonymous_variant	0				CCDS34813.1	8p23.1	2011-03-29			ENSG00000187082	ENSG00000187082		"Defensins, beta"	28879	protein-coding gene	gene with protein product							Standard	NM_001040704		Approved			Q8N104	OTTHUMG00000129312	ENST00000335479.2:c.120T>C	8.37:g.7340204A>G			Q2NKR0|Q496I8	Silent	SNP	NULL	p.N40	ENST00000335479.2	37	c.120	CCDS34813.1	8																																																																																			DEFB106B	-	NULL	ENSG00000187082		0.413	DEFB106B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB106B	HGNC	protein_coding	OTTHUMT00000251444.1	-	0	36	0	A			7340204	-1	tier1	rs138253070	no_errors	ENST00000335479	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.791	G	G	7340204	A	G	7340204	2	3	40	1	0	0	0	0	0	0	0	1	4410	214	8	4		4	DEFB106A	8	7340204	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	5493574	7340204	139023818	127	9784											
LONRF1	91694	genome.wustl.edu	37	chr8	12586755	12586755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttcttcgaatcatcaatCtgtatcttggctcaaataca	12	15	4	10	1	6	0	3	0	3	0	7	1	6	0	0	1	2	2	0	1	6	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:12586755C>T	ENST00000398246.3	-	9	1844	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K	LONRF1_ENST00000533751.1_Missense_Mutation_p.R235K|LONRF1_ENST00000525024.1_Missense_Mutation_p.R18K|MIR3926-2_ENST00000578598.1_RNA	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	592	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AATCATCAATCTGTATCTTGG	0.398																																																	0													91	87	88					8																	12586755		1911	4120	6031	SO:0001583	missense	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1775G>A	8.37:g.12586755C>T	ENSP00000381298:p.Arg592Lys		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.R592K	ENST00000398246.3	37	c.1775	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039928	0.93630	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.05	5.05	0.67936	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	M	0.84511	2.7	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.966;0.98	T	0.73157	-0.4071	10	0.56958	D	0.05	-16.0407	19.2927	0.94108	0.0:1.0:0.0:0.0	.	581;592	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	K	592;18;235;195	ENSP00000381298:R592K;ENSP00000436770:R18K;ENSP00000432130:R235K;ENSP00000433327:R195K	ENSP00000381298:R592K	R	-	2	0	LONRF1	12631126	1.000000	0.71417	0.955000	0.39395	0.921000	0.55340	7.776000	0.85560	2.737000	0.93849	0.563000	0.77884	AGA	LONRF1	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	ENSG00000154359		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	-	0	16	0	C	NM_152271		12586755	-1	tier1	-	no_errors	ENST00000398246	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	T	T	12586755	C	T	12586755	3	4	40	1	0	0	0	0	1	0	0	0	8929	913	32	3	562	3	LONRF1	8	12586755	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	5246551	12586755	133777267	128	9785											
ENTPD4	9583	genome.wustl.edu	37	chr8	23290462	23290462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtccccggggcattctGggcgggaaggccctcctcca	6	6	14	15	2	1	0	0	0	1	0	4	1	4	1	5	6	0	1	5	6	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:23290462G>T	ENST00000358689.4	-	13	2063	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	ENTPD4_ENST00000417069.2_Missense_Mutation_p.Q602K|ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	610					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGGGCATTCTGGGCGGGAAGG	0.617																																																	0													23	26	25					8																	23290462		2196	4288	6484	SO:0001583	missense	0			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1828C>A	8.37:g.23290462G>T	ENSP00000351520:p.Gln610Lys		D3DSS3|O15092	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.Q610K	ENST00000358689.4	37	c.1828	CCDS6041.1	8	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671756	0.47781	.	.	ENSG00000197217	ENST00000358689;ENST00000417069	T;T	0.13420	2.59;2.59	5.68	5.68	0.88126	.	0.351638	0.33364	N	0.004981	T	0.14056	0.0340	L	0.51422	1.61	0.45852	D	0.998712	B;B	0.20887	0.039;0.049	B;B	0.20955	0.032;0.031	T	0.08126	-1.0737	10	0.02654	T	1	-19.1638	18.3625	0.90379	0.0:0.0:1.0:0.0	.	602;610	Q9Y227-2;Q9Y227	.;ENTP4_HUMAN	K	610;602	ENSP00000351520:Q610K;ENSP00000408573:Q602K	ENSP00000351520:Q610K	Q	-	1	0	ENTPD4	23346407	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	8.551000	0.90678	2.687000	0.91594	0.563000	0.77884	CAG	ENTPD4	-	NULL	ENSG00000197217		0.617	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1	-	0	88	0	G	NM_004901		23290462	-1	tier1	-	no_errors	ENST00000358689	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	23290462	G	T	23290462	3	4	40	1	0	0	0	0	1	0	0	0	5157	1357	47	3	26	3	ENTPD4	8	23290462	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	10703707	23290462	123073560	129	9786											
KCNU1	157855	genome.wustl.edu	37	chr8	36694412	36694412	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcccaaggctgtttggtGccaggcttgtgtaccttcct	5	13	11	12	1	0	0	0	0	0	0	2	0	1	0	4	3	2	4	4	3	2	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:36694412G>T	ENST00000399881.3	+	14	1504	c.1467G>T	c.(1465-1467)gtG>gtT	p.V489V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	489	Segment S7.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCTGTTTGGTGCCAGGCTTGT	0.428																																																	0													185	184	185					8																	36694412		1882	4108	5990	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1467G>T	8.37:g.36694412G>T				Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.V489	ENST00000399881.3	37	c.1467	CCDS55220.1	8																																																																																			KCNU1	-	pfam_K_chnl_Ca-activ_BK_asu,prints_K_chnl_Ca-activ_BK_asu	ENSG00000215262		0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	37	0	G	NM_001031836		36694412	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.935	T	T	36694412	G	T	36694412	2	4	40	1	0	0	0	0	0	0	0	1	8120	1306	46	3		3	KCNU1	8	36694412	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	13403950	36694412	109669610	130	9787											
WWP1	11059	genome.wustl.edu	37	chr8	87473462	87473462	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattacagtttgtgaaaGagacagacaatgaagtaaga	17	11	9	4	0	1	5	1	2	0	3	1	6	1	5	0	0	1	2	0	0	5	4	rs368913513		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:87473462G>T	ENST00000517970.1	+	23	2816	c.2509G>T	c.(2509-2511)Gag>Tag	p.E837*	WWP1_ENST00000265428.4_Nonsense_Mutation_p.E837*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.E707*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.E619*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	837	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTTGTGAAAGAGACAGACAA	0.343																																																	0													129	122	124					8																	87473462		2203	4300	6503	SO:0001587	stop_gained	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2509G>T	8.37:g.87473462G>T	ENSP00000427793:p.Glu837*		O00307|Q5YLC1|Q96BP4	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E837*	ENST00000517970.1	37	c.2509	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.136182	0.98672	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423;ENST00000520798	.	.	.	5.31	5.31	0.75309	.	0.052740	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.3314	0.94291	0.0:0.0:1.0:0.0	.	.	.	.	X	837;837;707;619;3	.	ENSP00000265428:E837X	E	+	1	0	WWP1	87542578	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.643000	0.89663	0.650000	0.86243	GAG	WWP1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000123124		0.343	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0	26	0	G	NM_007013		87473462	1			no_errors	ENST00000265428	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	1.000	T	T	87473462	G	T	87473462	4	4	40	1	0	0	0	0	0	1	0	0	17464	943	33	3	2591	3	WWP1	8	87473462	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	50779050	87473462	58890560	131	9788											
YWHAZ	7534	genome.wustl.edu	37	chr8	101936481	101936481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcatttcctttttgctgAtttcaaaagcttcttggtat	7	20	7	7	0	2	1	1	1	1	0	3	1	3	1	1	1	3	5	1	1	3	8			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:101936481A>G	ENST00000395957.2	-	5	805	c.464T>C	c.(463-465)aTc>aCc	p.I155T	YWHAZ_ENST00000522819.1_Missense_Mutation_p.I35T|YWHAZ_ENST00000457309.1_Missense_Mutation_p.I155T|YWHAZ_ENST00000521309.1_Missense_Mutation_p.I35T|YWHAZ_ENST00000522542.1_Missense_Mutation_p.I80T|YWHAZ_ENST00000395956.3_Missense_Mutation_p.I155T|YWHAZ_ENST00000353245.3_Missense_Mutation_p.I155T|YWHAZ_ENST00000395948.2_Missense_Mutation_p.I78T|YWHAZ_ENST00000419477.2_Missense_Mutation_p.I155T|YWHAZ_ENST00000395953.2_Missense_Mutation_p.I155T|YWHAZ_ENST00000395951.3_Missense_Mutation_p.I155T|YWHAZ_ENST00000395958.2_Missense_Mutation_p.I155T			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	155					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			CTTTTTGCTGATTTCAAAAGC	0.423																																																	0													65	64	65					8																	101936481		2203	4297	6500	SO:0001583	missense	0			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"14-3-3 zeta", "14-3-3 delta"	601288	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide", "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.464T>C	8.37:g.101936481A>G	ENSP00000379287:p.Ile155Thr		A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.I155T	ENST00000395957.2	37	c.464	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975134	0.74360	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000522542;ENST00000521309;ENST00000517797;ENST00000522819;ENST00000395953;ENST00000395948;ENST00000395951;ENST00000419477;ENST00000521607	T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.98	4.98	0.66077	14-3-3 domain (4);	0.000000	0.64402	D	0.000002	T	0.48187	0.1486	L	0.56280	1.765	0.80722	D	1	B;B	0.28900	0.227;0.227	B;B	0.40901	0.343;0.343	T	0.48692	-0.9013	10	0.44086	T	0.13	.	14.9809	0.71311	1.0:0.0:0.0:0.0	.	155;155	D0PNI1;P63104	.;1433Z_HUMAN	T	155;155;155;155;155;80;35;78;35;155;78;155;155;163	ENSP00000379287:I155T;ENSP00000398599:I155T;ENSP00000379288:I155T;ENSP00000379286:I155T;ENSP00000309503:I155T;ENSP00000430072:I80T;ENSP00000429623:I35T;ENSP00000428775:I35T;ENSP00000379283:I155T;ENSP00000379278:I78T;ENSP00000379281:I155T;ENSP00000395114:I155T;ENSP00000430058:I163T	ENSP00000309503:I155T	I	-	2	0	YWHAZ	102005657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.184000	0.94893	2.004000	0.58718	0.477000	0.44152	ATC	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000164924		0.423	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	-	0	26	0	A	NM_145690		101936481	-1	tier1	-	no_errors	ENST00000353245	ensembl	human	known	74_37	missense	24.69	61	20	SNP	1.000	G	G	101936481	A	G	101936481	3	3	40	1	0	0	0	0	1	0	0	0	17555	333	12	4	285	4	YWHAZ	8	101936481	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	14463019	101936481	44427541	132	9789											
SLC30A8	169026	genome.wustl.edu	37	chr8	118170001	118170001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctagtgtacctggcatgtGagcgcctgctgtatcctgat	6	13	12	10	1	0	2	0	2	0	0	1	2	1	2	3	1	4	5	3	1	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:118170001G>A	ENST00000456015.2	+	4	490	c.490G>A	c.(490-492)Gag>Aag	p.E164K	SLC30A8_ENST00000427715.2_Missense_Mutation_p.E115K|SLC30A8_ENST00000521243.1_Missense_Mutation_p.E115K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E115K	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	164					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGGCATGTGAGCGCCTGCT	0.542																																					Ovarian(162;1202 1922 6011 16223 52092)												0													308	265	280					8																	118170001		2203	4300	6503	SO:0001583	missense	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.490G>A	8.37:g.118170001G>A	ENSP00000415011:p.Glu164Lys		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E164K	ENST00000456015.2	37	c.490	CCDS6322.1	8	.	.	.	.	.	.	.	.	.	.	G	7.409	0.634287	0.14322	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.77	2.92	0.33932	.	0.409484	0.27518	N	0.019015	T	0.52517	0.1739	L	0.42686	1.345	0.30798	N	0.740222	B	0.29909	0.261	B	0.39465	0.3	T	0.49634	-0.8919	10	0.10111	T	0.7	-8.8904	8.0304	0.30461	0.1278:0.2554:0.6168:0.0	.	164	Q8IWU4	ZNT8_HUMAN	K	115;115;115;164	ENSP00000428545:E115K;ENSP00000407505:E115K;ENSP00000431069:E115K;ENSP00000415011:E164K	ENSP00000407505:E115K	E	+	1	0	SLC30A8	118239182	0.966000	0.33281	0.031000	0.17742	0.022000	0.10575	1.620000	0.36976	0.746000	0.32786	-0.165000	0.13383	GAG	SLC30A8	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000164756		0.542	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1	-	0	57	0	G	NM_173851		118170001	1	tier1	-	no_errors	ENST00000456015	ensembl	human	known	74_37	missense	39.78	56	37	SNP	0.372	A	A	118170001	G	A	118170001	3	1	40	1	0	0	0	0	1	0	0	0	14606	1291	45	3	504	3	SLC30A8	8	118170001	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	16233520	118170001	28194021	133	9790											
ADCY8	114	genome.wustl.edu	37	chr8	131922079	131922079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggattccaatcctcatGtcaacatcgtgttttgtcct	8	15	8	10	1	2	0	2	0	0	0	6	2	5	1	3	1	1	1	3	1	2	3	rs559758167		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:131922079G>A	ENST00000286355.5	-	6	3607	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	ADCY8_ENST00000377928.3_Silent_p.D505D	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	505					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAATCCTCATGTCAACATCGT	0.483										HNSCC(32;0.087)																																							0													213	162	179					8																	131922079		2203	4300	6503	SO:0001819	synonymous_variant	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1515C>T	8.37:g.131922079G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D505	ENST00000286355.5	37	c.1515	CCDS6363.1	8																																																																																			ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000155897		0.483	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	50	0	G			131922079	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	silent	40.00	42	28	SNP	1.000	A	A	131922079	G	A	131922079	2	1	40	1	0	0	0	0	0	0	0	1	300	1368	48	3		3	ADCY8	8	131922079	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	13752078	131922079	14441943	134	9791											
SLC45A4	57210	genome.wustl.edu	37	chr8	142225916	142225916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcagtaggagatgctcatgGagacgatgcccatggtgctg	9	8	16	8	1	1	2	1	0	0	2	1	5	1	2	1	4	3	4	1	4	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr8:142225916G>C	ENST00000024061.3	-	6	2037	c.1730C>G	c.(1729-1731)tCc>tGc	p.S577C	SLC45A4_ENST00000519067.1_Missense_Mutation_p.S577C|SLC45A4_ENST00000517878.1_Missense_Mutation_p.S628C|SLC45A4_ENST00000433583.2_Missense_Mutation_p.S570C	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GATGCTCATGGAGACGATGCC	0.617																																																	0													200	144	163					8																	142225916		2203	4300	6503	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1730C>G	8.37:g.142225916G>C	ENSP00000024061:p.Ser577Cys		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S628C	ENST00000024061.3	37	c.1883	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330800	0.81690	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	5.41	5.41	0.78517	.	0.099124	0.64402	D	0.000001	D	0.90061	0.6896	M	0.81497	2.545	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.935;0.971;0.971	D	0.89950	0.4079	10	0.48119	T	0.1	-48.4412	19.1903	0.93663	0.0:0.0:1.0:0.0	.	628;577;577	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	C	577;628;570;577	ENSP00000429059:S577C;ENSP00000428137:S628C;ENSP00000400799:S570C;ENSP00000024061:S577C	ENSP00000024061:S577C	S	-	2	0	SLC45A4	142295098	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	6.494000	0.73661	2.526000	0.85167	0.462000	0.41574	TCC	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0	50	0	G	XM_050325		142225916	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	C	C	142225916	G	C	142225916	3	2	40	1	0	0	0	0	1	0	0	0	14688	1174	41	5	678	5	SLC45A4	8	142225916	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	10303837	142225916	4138106	135	9792											
CER1	9350	genome.wustl.edu	37	chr9	14722203	14722203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaggtctcccaatgtacTtcatggcttttgatgggcaa	8	13	10	10	0	2	1	1	1	1	0	3	1	2	1	1	3	2	4	1	3	3	4	rs373587912		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:14722203T>G	ENST00000380911.3	-	1	512	c.468A>C	c.(466-468)gaA>gaC	p.E156D		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	156					anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|bone mineralization (GO:0030282)|cell migration involved in gastrulation (GO:0042074)|cellular response to BMP stimulus (GO:0071773)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mesoderm development (GO:2000381)|nervous system development (GO:0007399)|sequestering of BMP in extracellular matrix (GO:0035582)|signal transduction involved in regulation of gene expression (GO:0023019)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CCCAATGTACTTCATGGCTTT	0.522																																																	0													93	88	90					9																	14722203		2203	4300	6503	SO:0001583	missense	0			AF090189	CCDS6476.1	9p23-p22	2013-02-26	2013-02-26		ENSG00000147869	ENSG00000147869			1862	protein-coding gene	gene with protein product		603777	"cerberus 1 (Xenopus laevis) homolog (cysteine knot superfamily)", "cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis)"			10049596	Standard	NM_005454		Approved	DAND4	uc003zlj.3	O95813	OTTHUMG00000021022	ENST00000380911.3:c.468A>C	9.37:g.14722203T>G	ENSP00000370297:p.Glu156Asp		Q6ISJ1|Q6ISJ6|Q6ISQ2|Q6ISS1	Missense_Mutation	SNP	pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C	p.E156D	ENST00000380911.3	37	c.468	CCDS6476.1	9	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219371	0.58560	.	.	ENSG00000147869	ENST00000380911	T	0.31510	1.49	5.1	2.77	0.32553	DAN (1);	0.085246	0.50627	N	0.000103	T	0.28896	0.0717	L	0.50333	1.59	0.33704	D	0.614868	B	0.24618	0.107	B	0.35899	0.213	T	0.29941	-0.9995	10	0.40728	T	0.16	-11.0753	6.0707	0.19887	0.0:0.0845:0.1765:0.739	.	156	O95813	CER1_HUMAN	D	156	ENSP00000370297:E156D	ENSP00000370297:E156D	E	-	3	2	CER1	14712203	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.537000	0.23144	0.411000	0.25702	0.533000	0.62120	GAA	CER1	-	pfam_DAN,pirsf_Cerberus	ENSG00000147869		0.522	CER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CER1	HGNC	protein_coding	OTTHUMT00000055453.1	-	0	45	0	T	NM_005454		14722203	-1	tier1	-	no_errors	ENST00000380911	ensembl	human	known	74_37	missense	40.00	36	24	SNP	1.000	G	G	14722203	T	G	14722203	3	3	40	1	0	0	0	0	1	0	0	0	3272	1606	56	4	343	4	CER1	9	14722203	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09		14722203	126491228	136	9793											
BNC2	54796	genome.wustl.edu	37	chr9	16436858	16436858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagaatgtcttcccacatGcattacagaacactcttcct	12	12	4	13	0	2	2	0	0	2	2	4	2	4	2	2	0	3	1	2	0	4	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:16436858G>T	ENST00000380672.4	-	6	1391	c.1334C>A	c.(1333-1335)gCa>gAa	p.A445E	BNC2_ENST00000380667.2_Missense_Mutation_p.A378E|BNC2_ENST00000545497.1_Missense_Mutation_p.A350E|BNC2_ENST00000380666.2_Missense_Mutation_p.A445E	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTTCCCACATGCATTACAGAA	0.423																																																	0													104	95	98					9																	16436858		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1334C>A	9.37:g.16436858G>T	ENSP00000370047:p.Ala445Glu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A445E	ENST00000380672.4	37	c.1334	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471634	0.63737	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.097212	0.64402	D	0.000001	T	0.29620	0.0739	N	0.02368	-0.58	0.80722	D	1	D;D;D;D;D;D;D;P;D	0.76494	0.999;0.975;0.997;0.999;0.992;0.983;0.993;0.837;0.96	D;P;D;D;P;P;P;P;P	0.72625	0.978;0.826;0.913;0.971;0.774;0.772;0.851;0.697;0.765	T	0.52132	-0.8616	10	0.45353	T	0.12	-13.3588	20.8794	0.99867	0.0:0.0:1.0:0.0	.	350;378;445;271;445;402;445;350;210	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	E	445;402;378;350;271;445;445	ENSP00000370047:A445E;ENSP00000408370:A402E;ENSP00000370042:A378E;ENSP00000444640:A350E;ENSP00000370041:A445E	ENSP00000370041:A445E	A	-	2	0	BNC2	16426858	1.000000	0.71417	0.979000	0.43373	0.849000	0.48306	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCA	BNC2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173068		0.423	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5		0	23	0	G	NM_017637		16436858	-1			no_errors	ENST00000380672	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	16436858	G	T	16436858	3	4	40	1	0	0	0	0	1	0	0	0	1477	1319	46	3	1973	3	BNC2	9	16436858	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1714655	16436858	124776573	137	9794											
PLIN2	123	genome.wustl.edu	37	chr9	19121077	19121077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcacccctgtgatcgtGctggccacagaatccttggc	7	10	9	15	1	1	2	1	1	0	1	4	2	3	2	5	2	1	1	5	2	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:19121077G>A	ENST00000276914.2	-	5	575	c.396C>T	c.(394-396)agC>agT	p.S132S	PLIN2_ENST00000411567.1_Silent_p.S132S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	132					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTGTGATCGTGCTGGCCACAG	0.527																																																	0													143	121	129					9																	19121077		2203	4300	6503	SO:0001819	synonymous_variant	0			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.396C>T	9.37:g.19121077G>A			Q9BSC3	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.S132	ENST00000276914.2	37	c.396	CCDS6490.1	9																																																																																			PLIN2	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000147872		0.527	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1		0	11	0	G	NM_001122		19121077	-1			no_errors	ENST00000276914	ensembl	human	known	74_37	silent	12.90	26	4	SNP	0.994	A	A	19121077	G	A	19121077	2	1	40	1	0	0	0	0	0	0	0	1	12129	1310	46	3		3	PLIN2	9	19121077	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2684219	19121077	122092354	138	9795											
FBXO10	26267	genome.wustl.edu	37	chr9	37541505	37541505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactccaagtccaaggcattCttggtccatgtcttggatgc	8	12	10	11	0	2	0	0	0	2	0	5	2	5	1	3	3	1	1	3	3	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:37541505C>G	ENST00000432825.2	-	2	309	c.261G>C	c.(259-261)aaG>aaC	p.K87N	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	87					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCAAGGCATTCTTGGTCCATG	0.552																																																	0													68	68	68					9																	37541505		2020	4208	6228	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.261G>C	9.37:g.37541505C>G	ENSP00000403802:p.Lys87Asn		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.K87N	ENST00000432825.2	37	c.261	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256774	0.59321	.	.	ENSG00000147912	ENST00000432825	T	0.50813	0.73	5.81	3.72	0.42706	F-box domain, Skp2-like (1);	0.102513	0.64402	D	0.000003	T	0.31358	0.0794	N	0.17082	0.46	0.80722	D	1	P	0.52842	0.956	B	0.44224	0.444	T	0.11348	-1.0591	10	0.59425	D	0.04	-32.0101	7.608	0.28113	0.0:0.7264:0.0:0.2736	.	87	Q9UK96	FBX10_HUMAN	N	87	ENSP00000403802:K87N	ENSP00000276960:K87N	K	-	3	2	FBXO10	37531505	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	0.875000	0.28079	1.439000	0.47511	0.555000	0.69702	AAG	FBXO10	-	superfamily_F-box_dom	ENSG00000147912		0.552	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0	69	0	C			37541505	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	31.33	56	26	SNP	1.000	G	G	37541505	C	G	37541505	3	3	40	1	0	0	0	0	1	0	0	0	5748	912	32	5	2649	5	FBXO10	9	37541505	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	18420428	37541505	103671926	139	9796											
SHB	6461	genome.wustl.edu	37	chr9	38016031	38016031	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgatcctctgtgcctcaTagggctccatgtagccagca	8	11	9	13	0	3	1	2	1	1	0	5	1	5	1	4	1	3	3	4	1	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:38016031T>G	ENST00000377707.3	-	2	1380	c.815A>C	c.(814-816)tAt>tCt	p.Y272S	SHB_ENST00000377700.4_Missense_Mutation_p.Y272S|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.Y272S	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	272	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTGTGCCTCATAGGGCTCCAT	0.557																																																	0													199	201	200					9																	38016031		2017	4203	6220	SO:0001583	missense	0				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.815A>C	9.37:g.38016031T>G	ENSP00000366936:p.Tyr272Ser		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.Y272S	ENST00000377707.3	37	c.815	CCDS43806.1	9	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282283	0.80692	.	.	ENSG00000107338	ENST00000377707;ENST00000377700	T	0.30981	1.51	5.86	5.86	0.93980	.	0.428219	0.19937	N	0.102731	T	0.53061	0.1773	M	0.64997	1.995	0.44711	D	0.997702	D	0.65815	0.995	D	0.72982	0.979	T	0.54186	-0.8331	10	0.87932	D	0	-14.0477	14.2061	0.65734	0.0:0.0:0.0:1.0	.	272	Q15464	SHB_HUMAN	S	272	ENSP00000366936:Y272S	ENSP00000366929:Y272S	Y	-	2	0	SHB	38006031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.963000	0.56773	2.232000	0.73038	0.533000	0.62120	TAT	SHB	-	NULL	ENSG00000107338		0.557	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHB	HGNC	protein_coding	OTTHUMT00000052490.1	-	0	30	0	T			38016031	-1	tier1	-	no_errors	ENST00000377707	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	G	G	38016031	T	G	38016031	3	3	40	1	0	0	0	0	1	0	0	0	14313	1406	49	4	734	4	SHB	9	38016031	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	474526	38016031	103197400	140	9797											
TRPM3	80036	genome.wustl.edu	37	chr9	73152282	73152282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcatggagtgctctctCtcgttgacttcctccagccg	4	13	9	15	2	3	1	1	1	2	0	7	2	5	2	4	1	2	2	4	1	0	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:73152282C>A	ENST00000377111.2	-	25	3954	c.3711G>T	c.(3709-3711)gaG>gaT	p.E1237D	TRPM3_ENST00000396285.1_Missense_Mutation_p.E1096D|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1096D|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1096D|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1099D|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1241D|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1086D|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1264D|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1109D|TRPM3_ENST00000358082.3_Missense_Mutation_p.E1099D|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1237D|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1109D	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1262					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGTGCTCTCTCTCGTTGACTT	0.602																																																	0													39	32	34					9																	73152282		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3711G>T	9.37:g.73152282C>A	ENSP00000366315:p.Glu1237Asp		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E1264D	ENST00000377111.2	37	c.3792		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.788319|2.788319	0.49997|0.49997	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79|.	6.17|6.17	3.38|3.38	0.38709|0.38709	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.66076|.	0.2753|.	M|M	0.73372|0.73372	2.23|2.23	0.37835|0.37835	D|D	0.928861|0.928861	B;B;D;B;B;D;B;P|.	0.65815|.	0.264;0.022;0.995;0.172;0.172;0.985;0.066;0.955|.	B;B;D;B;B;P;B;P|.	0.66196|.	0.263;0.045;0.942;0.134;0.05;0.825;0.261;0.752|.	T|.	0.70575|.	-0.4834|.	10|.	0.30078|0.56958	T|D	0.28|0.05	-28.5543|-28.5543	10.078|10.078	0.42373|0.42373	0.0:0.7384:0.0:0.2616|0.0:0.7384:0.0:0.2616	.|.	1237;1237;1227;1241;1099;1096;1209;1096|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	D|X	1237;1237;1109;1099;1096;1241;1096;1096;1109;1099;1264|1086	ENSP00000366315:E1237D;ENSP00000366314:E1237D;ENSP00000366310:E1109D;ENSP00000354066:E1099D;ENSP00000366309:E1096D;ENSP00000350140:E1241D;ENSP00000386127:E1096D;ENSP00000379581:E1096D;ENSP00000379587:E1109D;ENSP00000350791:E1099D;ENSP00000389542:E1264D|.	ENSP00000350140:E1241D|ENSP00000379576:E1086X	E|E	-|-	3|1	2|0	TRPM3|TRPM3	72342102|72342102	0.485000|0.485000	0.25972|0.25972	0.990000|0.990000	0.47175|0.47175	0.997000|0.997000	0.91878|0.91878	0.080000|0.080000	0.14802|0.14802	0.948000|0.948000	0.37687|0.37687	0.655000|0.655000	0.94253|0.94253	GAG|GAG	TRPM3	-	NULL	ENSG00000083067		0.602	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5		0	60	0	C	NM_206945		73152282	-1			no_errors	ENST00000423814	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	73152282	C	A	73152282	3	1	40	1	0	0	0	0	1	0	0	0	16635	912	32	3	1416	3	TRPM3	9	73152282	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	35136251	73152282	68061149	141	9798											
TNFSF15	9966	genome.wustl.edu	37	chr9	117568161	117568161	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgagtcctgcaaggaagggGagcaacaccaggcagcaggt	12	4	16	9	0	0	1	0	1	0	0	1	3	1	3	2	5	4	4	2	5	3	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:117568161G>T	ENST00000374045.4	-	1	245	c.132C>A	c.(130-132)ctC>ctA	p.L44L		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	44					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CAAGGAAGGGGAGCAACACCA	0.627																																																	0													64	57	59					9																	117568161		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"Tumor necrosis factor (ligand) superfamily"	11931	protein-coding gene	gene with protein product	"vascular endothelial cell growth inhibitor", "TNF superfamily ligand TL1A", "TNF ligand-related molecule 1", "vascular endothelial growth inhibitor-192A"	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.132C>A	9.37:g.117568161G>T			Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF	p.L44	ENST00000374045.4	37	c.132	CCDS6809.1	9																																																																																			TNFSF15	-	NULL	ENSG00000181634		0.627	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2		0	58	0	G	NM_005118		117568161	-1			no_errors	ENST00000374045	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.001	T	T	117568161	G	T	117568161	2	4	40	1	0	0	0	0	0	0	0	1	16355	1161	41	3		3	TNFSF15	9	117568161	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	44415879	117568161	23645270	142	9799											
GARNL3	84253	genome.wustl.edu	37	chr9	130152998	130152998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagcggttagaagaaaGccaaggaggccccaagccag	14	2	14	11	2	0	2	0	0	0	2	0	4	0	4	5	4	3	1	5	4	6	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:130152998G>C	ENST00000373387.4	+	27	3174	c.2822G>C	c.(2821-2823)aGc>aCc	p.S941T	GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.S919T|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	941					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTAGAAGAAAGCCAAGGAGGC	0.562																																																	0													84	97	93					9																	130152998		2203	4300	6503	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2822G>C	9.37:g.130152998G>C	ENSP00000362485:p.Ser941Thr		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.S941T	ENST00000373387.4	37	c.2822	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204071	0.38905	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87103	-2.21;-2.21	4.59	-0.969	0.10310	.	0.658250	0.15030	N	0.284497	T	0.70996	0.3288	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51779	-0.8662	9	.	.	.	.	4.0508	0.09795	0.3331:0.3399:0.327:0.0	.	941;919	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	T	919;941	ENSP00000396205:S919T;ENSP00000362485:S941T	.	S	+	2	0	GARNL3	129192819	0.998000	0.40836	0.994000	0.49952	0.991000	0.79684	0.249000	0.18216	-0.144000	0.11314	0.655000	0.94253	AGC	GARNL3	-	NULL	ENSG00000136895		0.562	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	-	0	41	0	G	NM_032293		130152998	1	tier1	-	no_errors	ENST00000373387	ensembl	human	known	74_37	missense	33.33	60	30	SNP	0.993	C	C	130152998	G	C	130152998	3	2	40	1	0	0	0	0	1	0	0	0	6266	971	34	5	2928	5	GARNL3	9	130152998	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	12584837	130152998	11060433	143	9800											
ABL1	25	genome.wustl.edu	37	chr9	133760107	133760107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccgggctccagcccGcccaacctgactccaaaacc	9	4	7	21	2	0	1	0	1	0	0	3	1	3	1	8	1	4	1	8	1	3	0	rs529175662	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:133760107G>A	ENST00000318560.5	+	11	2811	c.2430G>A	c.(2428-2430)ccG>ccA	p.P810P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	810	Pro-rich.		P -> L (in dbSNP:rs2229071). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GCTCCAGCCCGCCCAACCTGA	0.622			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								G|||	2	0.000399361	8e-04	0	5008	,	,		16956	0		0	False		,,,				2504	0.001							Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													15	19	18					9																	133760107		2200	4298	6498	SO:0001819	synonymous_variant	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2430G>A	9.37:g.133760107G>A			A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P829	ENST00000318560.5	37	c.2487	CCDS35166.1	9																																																																																			ABL1	-	NULL	ENSG00000097007		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	-	0	30	0	G	NM_007313		133760107	1	tier1	-	no_errors	ENST00000372348	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.011	A	A	133760107	G	A	133760107	2	1	40	1	0	0	0	0	0	0	0	1	92	1074	38	1		1	ABL1	9	133760107	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3607109	133760107	7453324	144	9801											
GTF3C5	9328	genome.wustl.edu	37	chr9	135933250	135933250	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggaaaagagcagctgacGtacgagtctggggaagacga	13	4	17	7	4	1	3	0	1	1	2	1	7	1	5	0	4	3	3	0	4	4	1	rs200561021		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:135933250G>T	ENST00000372097.5	+	11	1766	c.1443G>T	c.(1441-1443)acG>acT	p.T481T	GTF3C5_ENST00000372108.5_Silent_p.T488T|GTF3C5_ENST00000372099.6_Silent_p.T472T|GTF3C5_ENST00000342018.8_Silent_p.T419T	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	481	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGCAGCTGACGTACGAGTCTG	0.592																																																	0													62	50	54					9																	135933250		2203	4300	6503	SO:0001819	synonymous_variant	0			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"General transcription factors"	4668	protein-coding gene	gene with protein product	"transcription factor IIIC, 63 kD"	604890	"general transcription factor IIIC, polypeptide 5 (63kD)"			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1443G>T	9.37:g.135933250G>T			A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	pfam_TF_IIIC_su-5	p.T488	ENST00000372097.5	37	c.1464	CCDS6958.1	9																																																																																			GTF3C5	-	NULL	ENSG00000148308		0.592	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	-	0	48	0	G	NM_001122823		135933250	1	tier1	-	no_errors	ENST00000372108	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.000	T	T	135933250	G	T	135933250	2	4	40	1	0	0	0	0	0	0	0	1	6903	1132	40	2		2	GTF3C5	9	135933250	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2173143	135933250	5280181	145	9802											
COL5A1	1289	genome.wustl.edu	37	chr9	137687132	137687132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggtgaaagaggccccCggggcatcactgggaagcct	9	4	17	11	2	1	2	1	1	0	1	1	4	1	3	3	6	1	1	3	6	2	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:137687132C>T	ENST00000371817.3	+	34	3184	c.2770C>T	c.(2770-2772)Cgg>Tgg	p.R924W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	924	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGCCCCCGGGGCATCAC	0.637																																																	0													71	76	75					9																	137687132		2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2770C>T	9.37:g.137687132C>T	ENSP00000360882:p.Arg924Trp		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R924W	ENST00000371817.3	37	c.2770	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607356	0.66558	.	.	ENSG00000130635	ENST00000371817	D	0.94376	-3.41	4.22	3.21	0.36854	.	0.000000	0.85682	U	0.000000	D	0.95519	0.8544	M	0.73962	2.25	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	D	0.95038	0.8175	10	0.72032	D	0.01	.	9.2412	0.37498	0.5275:0.4725:0.0:0.0	.	924	P20908	CO5A1_HUMAN	W	924	ENSP00000360882:R924W	ENSP00000360882:R924W	R	+	1	2	COL5A1	136826953	0.809000	0.29036	1.000000	0.80357	0.836000	0.47400	1.595000	0.36708	1.904000	0.55121	0.297000	0.19635	CGG	COL5A1	-	NULL	ENSG00000130635		0.637	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	73	0	C	NM_000093		137687132	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	55.88	29	38	SNP	0.985	T	T	137687132	C	T	137687132	3	4	40	1	0	0	0	0	1	0	0	0	3703	643	23	1	2904	1	COL5A1	9	137687132	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1753882	137687132	3526299	146	9803											
PMPCA	23203	genome.wustl.edu	37	chr9	139310795	139310795	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgagctggaggacctGaacctgcggcctgacccaga	9	7	13	12	1	0	4	0	3	0	1	0	6	0	6	4	3	3	2	4	3	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr9:139310795G>T	ENST00000371717.3	+	6	594	c.585G>T	c.(583-585)ctG>ctT	p.L195L	PMPCA_ENST00000399219.3_Silent_p.L64L|PMPCA_ENST00000371720.1_3'UTR|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	195					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGGAGGACCTGAACCTGCGGC	0.557																																																	0													103	94	97					9																	139310795		2203	4300	6503	SO:0001819	synonymous_variant	0			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.585G>T	9.37:g.139310795G>T			B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.L195	ENST00000371717.3	37	c.585	CCDS35180.1	9																																																																																			PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000165688		0.557	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	-	0	37	0	G	NM_015160		139310795	1	tier1	-	no_errors	ENST00000371717	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.927	T	T	139310795	G	T	139310795	2	4	40	1	0	0	0	0	0	0	0	1	12179	1277	45	3		3	PMPCA	9	139310795	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1623663	139310795	1902636	147	9804											
CUBN	8029	genome.wustl.edu	37	chr10	16932470	16932470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataacgggacccggagccacGttcccacagccagtggctag	10	5	12	14	3	0	0	0	0	0	0	1	2	1	2	4	3	3	2	4	3	2	3	rs369599232		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:16932470G>A	ENST00000377833.4	-	55	8720	c.8655C>T	c.(8653-8655)aaC>aaT	p.N2885N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2885	CUB 21. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGGAGCCACGTTCCCACAGC	0.562																																																	0								G		0,4406		0,0,2203	113	102	106		8655	-3.2	0	10		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUBN	NM_001081.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2885/3624	16932470	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8655C>T	10.37:g.16932470G>A			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.N2885	ENST00000377833.4	37	c.8655	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.562	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	66	0	G	NM_001081		16932470	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	silent	40.23	51	35	SNP	0.000	A	A	16932470	G	A	16932470	2	1	40	1	0	0	0	0	0	0	0	1	4060	1136	40	1		1	CUBN	10	16932470	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		16932470	118602277	148	9805											
GAD2	2572	genome.wustl.edu	37	chr10	26505760	26505760	+	Frame_Shift_Del	DEL	T	T	-																															tggcatctccgggctctggcTtttggtctttcgggtcggaa																										TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:26505760delT	ENST00000376261.3	+	1	525	c.22delT	c.(22-24)tttfs	p.F8fs	GAD2_ENST00000259271.3_Frame_Shift_Del_p.F8fs|GAD2_ENST00000376248.1_5'Flank	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	8					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGGCTCTGGCTTTTGGTCTTT	0.667																																																	0													65	69	68					10																	26505760		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.22delT	10.37:g.26505760delT	ENSP00000365437:p.Phe8fs		Q9UD87	Frame_Shift_Del	DEL	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.W9fs	ENST00000376261.3	37	c.22	CCDS7149.1	10																																																																																			GAD2	-	NULL	ENSG00000136750		0.667	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	HGNC	protein_coding	OTTHUMT00000047255.1		0	35	0	T	NM_000818		26505760	1	tier1		no_errors	ENST00000259271	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	26505760	T	-	26505760	7	5	40	1	0	1	0	1	0	0	0	0	6204	1609	56	0	24	0	GAD2	10	26505760	Frame_Shift_Del	DEL	T	TCGA-JY-A6FH-01A-11D-A33E-09	9573290	26505760	109028987	149	9806											
RBP3	5949	genome.wustl.edu	37	chr10	48388265	48388265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgcgcctccggccgtGggctccccaatgaccgtggc	5	6	15	15	4	0	2	0	1	0	1	2	3	2	2	6	3	1	1	6	3	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:48388265G>A	ENST00000224600.4	-	1	2726	c.2613C>T	c.(2611-2613)ccC>ccT	p.P871P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	871	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CTCCGGCCGTGGGCTCCCCAA	0.637																																																	0													21	22	22					10																	48388265		2200	4296	6496	SO:0001819	synonymous_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2613C>T	10.37:g.48388265G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.P871	ENST00000224600.4	37	c.2613	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0	66	0	G	NM_002900		48388265	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	silent	33.33	38	19	SNP	1.000	A	A	48388265	G	A	48388265	2	1	40	1	0	0	0	0	0	0	0	1	13202	1335	47	3		3	RBP3	10	48388265	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	21882505	48388265	87146482	150	9807											
OGDHL	55753	genome.wustl.edu	37	chr10	50951015	50951015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacggccccgcagaatgCgagagaggcctgtgggaaag	10	3	16	12	4	0	2	0	0	0	2	0	5	0	3	4	3	1	2	4	3	2	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:50951015C>T	ENST00000374103.4	-	15	1956	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	OGDHL_ENST00000419399.1_Missense_Mutation_p.R567H|OGDHL_ENST00000432695.1_Missense_Mutation_p.R415H	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	624					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R624H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCGCAGAATGCGAGAGAGGCC	0.642																																																	1	Substitution - Missense(1)	large_intestine(1)											49	45	46					10																	50951015		2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1871G>A	10.37:g.50951015C>T	ENSP00000363216:p.Arg624His		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.R624H	ENST00000374103.4	37	c.1871	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	c	27.5	4.837953	0.91117	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.07688	3.17;3.19;3.22	5.22	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	H	0.94264	3.515	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.996	T	0.56565	-0.7958	10	0.87932	D	0	.	14.0685	0.64847	0.0:0.9269:0.0:0.0731	.	567;415;624	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	H	624;567;415	ENSP00000363216:R624H;ENSP00000401356:R567H;ENSP00000390240:R415H	ENSP00000363216:R624H	R	-	2	0	OGDHL	50621021	1.000000	0.71417	0.987000	0.45799	0.813000	0.45954	5.888000	0.69758	1.327000	0.45338	0.651000	0.88453	CGC	OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.642	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	-	0	50	0	C	NM_018245		50951015	-1	tier1	-	no_errors	ENST00000374103	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	T	T	50951015	C	T	50951015	3	4	40	1	0	0	0	0	1	0	0	0	10879	768	27	1	1197	1	OGDHL	10	50951015	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	2562750	50951015	84583732	151	9808											
MBL2	4153	genome.wustl.edu	37	chr10	54528082	54528082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttctgtcttctcatCagtgatgcccaggaaggctt	6	13	9	13	0	4	1	2	1	3	0	5	2	4	2	2	2	2	1	2	2	1	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:54528082C>A	ENST00000373968.3	-	4	626	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	188	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCTTCTCATCAGTGATGCCC	0.507																																																	0													266	246	253					10																	54528082		2202	4300	6502	SO:0001583	missense	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.562G>T	10.37:g.54528082C>A	ENSP00000363079:p.Asp188Tyr		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.D188Y	ENST00000373968.3	37	c.562	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066804	0.36470	.	.	ENSG00000165471	ENST00000373968	T	0.28255	1.62	4.73	2.86	0.33363	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.094486	0.45867	D	0.000337	T	0.64438	0.2598	H	0.96805	3.885	0.49213	D	0.999762	D	0.89917	1.0	D	0.97110	1.0	T	0.68704	-0.5338	10	0.87932	D	0	-18.0357	8.0833	0.30758	0.1585:0.7546:0.0:0.0868	.	188	P11226	MBL2_HUMAN	Y	188	ENSP00000363079:D188Y	ENSP00000363079:D188Y	D	-	1	0	MBL2	54198088	0.997000	0.39634	0.516000	0.27786	0.092000	0.18411	2.395000	0.44459	0.660000	0.30964	-0.218000	0.12543	GAT	MBL2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000165471		0.507	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1		0	18	0	C	NM_000242		54528082	-1			no_errors	ENST00000373968	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.967	A	A	54528082	C	A	54528082	3	1	40	1	0	0	0	0	1	0	0	0	9388	826	29	3	188	3	MBL2	10	54528082	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	3577067	54528082	81006665	152	9809											
CDHR1	92211	genome.wustl.edu	37	chr10	85971434	85971434	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatacaggaccctggggcGaagtgaaatattccacctat	13	8	10	10	1	0	2	0	1	0	1	1	4	1	3	3	3	1	0	3	3	5	4	rs547812313		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:85971434G>T	ENST00000372117.3	+	14	1619	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	CDHR1_ENST00000332904.3_Nonsense_Mutation_p.E506*|CDHR1_ENST00000440770.2_Nonsense_Mutation_p.E210*	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCTGGGGCGAAGTGAAATA	0.572																																																	0													124	124	124					10																	85971434		2203	4300	6503	SO:0001587	stop_gained	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"Cadherins / Cadherin-related"	14550	protein-coding gene	gene with protein product		609502	"protocadherin 21"	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1516G>T	10.37:g.85971434G>T	ENSP00000361189:p.Glu506*		Q69YZ8|Q8IXY5	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E506*	ENST00000372117.3	37	c.1516	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312997	0.81358	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	.	.	.	5.74	1.18	0.20946	.	0.292876	0.42172	D	0.000744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1501	5.1073	0.14790	0.293:0.1448:0.5622:0.0	.	.	.	.	X	506;506;210	.	ENSP00000331063:E506X	E	+	1	0	CDHR1	85961414	1.000000	0.71417	0.055000	0.19348	0.446000	0.32137	3.398000	0.52579	-0.048000	0.13401	0.655000	0.94253	GAA	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000148600		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1		0	50	0	G	NM_033100		85971434	1			no_errors	ENST00000372117	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	0.812	T	T	85971434	G	T	85971434	4	4	40	1	0	0	0	0	0	1	0	0	3125	1059	37	2	1570	2	CDHR1	10	85971434	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	31443352	85971434	49563313	153	9810											
LIPJ	142910	genome.wustl.edu	37	chr10	90365400	90365400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcagcttttaaattCtactcatttgaaagcttatg	10	19	4	8	0	4	1	2	1	2	0	5	1	4	1	0	0	3	2	0	0	5	7			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:90365400C>A	ENST00000371939.3	+	10	1120	c.806C>A	c.(805-807)tCt>tAt	p.S269Y		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	269					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)	p.S269Y(1)		large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CTTTTAAATTCTACTCATTTG	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											91	92	91					10																	90365400		2203	4300	6503	SO:0001583	missense	0			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.806C>A	10.37:g.90365400C>A	ENSP00000361007:p.Ser269Tyr		A8MT98|Q0P671	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.S269Y	ENST00000371939.3	37	c.806	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746262	0.30955	.	.	ENSG00000204022	ENST00000371939;ENST00000531458	T;T	0.72725	-0.68;-0.68	3.69	2.74	0.32292	Alpha/beta hydrolase fold-1 (1);	0.508491	0.16724	N	0.202147	T	0.75324	0.3834	M	0.79693	2.465	0.09310	N	1	P	0.35628	0.513	B	0.43838	0.433	T	0.67933	-0.5542	10	0.56958	D	0.05	-12.348	10.1134	0.42576	0.2021:0.7979:0.0:0.0	.	269	Q5W064	LIPJ_HUMAN	Y	269;84	ENSP00000361007:S269Y;ENSP00000434211:S84Y	ENSP00000361007:S269Y	S	+	2	0	LIPJ	90355380	0.377000	0.25106	0.052000	0.19188	0.011000	0.07611	2.640000	0.46579	0.830000	0.34757	0.643000	0.83706	TCT	LIPJ	-	pfam_AB_hydrolase_1	ENSG00000204022		0.353	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2		0	15	0	C	XM_084377		90365400	1			no_errors	ENST00000371939	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.079	A	A	90365400	C	A	90365400	3	1	40	1	0	0	0	0	1	0	0	0	8856	913	32	3	836	3	LIPJ	10	90365400	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	4393966	90365400	45169347	154	9811											
PDCD11	22984	genome.wustl.edu	37	chr10	105169561	105169561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacatatttctcaaatcagGcagtaagaaatgttgagcct	15	11	8	7	0	2	2	2	1	1	1	3	3	2	2	1	1	2	3	1	1	5	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:105169561G>T	ENST00000369797.3	+	8	1070	c.976G>T	c.(976-978)Gca>Tca	p.A326S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	326	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTCAAATCAGGCAGTAAGAAA	0.453																																																	0													98	91	93					10																	105169561		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.976G>T	10.37:g.105169561G>T	ENSP00000358812:p.Ala326Ser		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.A326S	ENST00000369797.3	37	c.976	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	7.767	0.706531	0.15239	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.16743	2.32	5.32	-7.04	0.01578	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.988984	0.08259	N	0.973394	T	0.08179	0.0204	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.15484	0.013	T	0.44003	-0.9356	10	0.10111	T	0.7	1.251	8.9868	0.35999	0.4936:0.2678:0.2386:0.0	.	326	Q14690	RRP5_HUMAN	S	326	ENSP00000358812:A326S	ENSP00000358812:A326S	A	+	1	0	PDCD11	105159551	0.000000	0.05858	0.048000	0.18961	0.800000	0.45204	-0.654000	0.05354	-1.208000	0.02634	0.561000	0.74099	GCA	PDCD11	-	superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.453	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0	30	0	G			105169561	1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.001	T	T	105169561	G	T	105169561	3	4	40	1	0	0	0	0	1	0	0	0	11656	1203	42	3	1002	3	PDCD11	10	105169561	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	14804161	105169561	30365186	155	9812											
TACC2	10579	genome.wustl.edu	37	chr10	123971221	123971221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagacgcccctaaaGacgtaagttcaggggtggag	15	5	14	7	2	1	4	1	0	0	4	1	5	1	5	2	3	0	2	2	3	6	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:123971221G>T	ENST00000369005.1	+	9	7621	c.7281G>T	c.(7279-7281)aaG>aaT	p.K2427N	TACC2_ENST00000369001.1_Missense_Mutation_p.K131N|TACC2_ENST00000515273.1_Missense_Mutation_p.K2431N|TACC2_ENST00000260733.3_Missense_Mutation_p.K505N|TACC2_ENST00000369000.1_Missense_Mutation_p.K131N|TACC2_ENST00000453444.2_Missense_Mutation_p.K2431N|TACC2_ENST00000369004.3_Missense_Mutation_p.K505N|TACC2_ENST00000334433.3_Missense_Mutation_p.K2427N|TACC2_ENST00000513429.1_Missense_Mutation_p.K573N|TACC2_ENST00000515603.1_Missense_Mutation_p.K2382N|TACC2_ENST00000368999.1_Missense_Mutation_p.K505N|TACC2_ENST00000360561.3_Missense_Mutation_p.K505N|TACC2_ENST00000358010.1_Missense_Mutation_p.K573N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2427					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCCCCTAAAGACGTAAGTTC	0.577																																																	0													34	35	35					10																	123971221		2202	4299	6501	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7281G>T	10.37:g.123971221G>T	ENSP00000358001:p.Lys2427Asn		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.K2427N	ENST00000369005.1	37	c.7281	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	16.54	3.153241	0.57259	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639;ENST00000496913;ENST00000508411	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.23950	3.83;3.39;3.86;3.84;3.83;3.39;3.86;1.97;2.01;3.25;3.37;3.37;3.26;2.88;1.88;2.27	4.75	4.75	0.60458	.	0.000000	0.38720	N	0.001582	T	0.36276	0.0961	L	0.46157	1.445	0.50313	D	0.999866	D;D;P;D;D;D;D;B;D;D	0.64830	0.973;0.994;0.627;0.994;0.994;0.966;0.966;0.384;0.966;0.994	P;P;B;P;P;P;P;P;P;P	0.62649	0.736;0.816;0.424;0.816;0.816;0.736;0.736;0.506;0.736;0.905	T	0.02917	-1.1094	10	0.23891	T	0.37	-22.7651	9.9732	0.41768	0.1581:0.0:0.8419:0.0	.	522;2431;505;2382;2431;505;505;131;573;2427	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	N	2427;573;2431;2382;2427;573;2431;2417;131;131;505;505;505;505;522;155;166;7	ENSP00000358001:K2427N;ENSP00000425062:K573N;ENSP00000424467:K2431N;ENSP00000427618:K2382N;ENSP00000334280:K2427N;ENSP00000350701:K573N;ENSP00000395048:K2431N;ENSP00000357997:K131N;ENSP00000357996:K131N;ENSP00000353763:K505N;ENSP00000357995:K505N;ENSP00000422815:K505N;ENSP00000260733:K505N;ENSP00000420967:K522N;ENSP00000426303:K155N;ENSP00000422725:K166N	ENSP00000260733:K505N	K	+	3	2	TACC2	123961211	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.439000	0.52878	2.362000	0.80069	0.561000	0.74099	AAG	TACC2	-	NULL	ENSG00000138162		0.577	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0	69	0	G			123971221	1			no_errors	ENST00000334433	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	123971221	G	T	123971221	3	4	40	1	0	0	0	0	1	0	0	0	15549	933	33	3	7383	3	TACC2	10	123971221	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	18801660	123971221	11563526	156	9813											
DOCK1	1793	genome.wustl.edu	37	chr10	129172366	129172366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaatacctcgccaaaacagGagaaacttttgtaaaactcg	17	8	6	10	2	0	1	0	0	0	1	2	2	0	1	2	1	4	1	2	1	7	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr10:129172366G>A	ENST00000280333.6	+	35	3609	c.3500G>A	c.(3499-3501)gGa>gAa	p.G1167E		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1167					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCCAAAACAGGAGAAACTTTT	0.408																																																	0													77	74	75					10																	129172366		1874	4112	5986	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.3500G>A	10.37:g.129172366G>A	ENSP00000280333:p.Gly1167Glu		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.G1167E	ENST00000280333.6	37	c.3500		10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381733	0.82792	.	.	ENSG00000150760	ENST00000280333	T	0.25749	1.78	5.31	5.31	0.75309	.	0.123214	0.53938	D	0.000047	T	0.60650	0.2285	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.79784	0.993;0.986;0.961	T	0.68492	-0.5394	10	0.87932	D	0	.	18.7713	0.91893	0.0:0.0:1.0:0.0	.	1167;1233;1167	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	E	1167	ENSP00000280333:G1167E	ENSP00000280333:G1167E	G	+	2	0	DOCK1	129062356	1.000000	0.71417	0.244000	0.24202	0.797000	0.45037	9.380000	0.97202	2.768000	0.95171	0.650000	0.86243	GGA	DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.408	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0	53	0	G	NM_001380		129172366	1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	36.00	63	36	SNP	1.000	A	A	129172366	G	A	129172366	3	1	40	1	0	0	0	0	1	0	0	0	4698	1174	41	3	3638	3	DOCK1	10	129172366	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5201145	129172366	6362381	157	9814											
RNH1	6050	genome.wustl.edu	37	chr11	494990	494991	+	Frame_Shift_Ins	INS	-	-	T																															ccagctcacgcaggctgtggINSttggccaacagggttgcggc																										TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:494990_494991insT	ENST00000534797.1	-	8	2597_2598	c.1190_1191insA	c.(1189-1191)aacfs	p.N397fs	RNH1_ENST00000438658.2_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000356187.5_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000354420.2_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000397615.2_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000533410.1_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000397614.1_Frame_Shift_Ins_p.N397fs|RNH1_ENST00000397604.3_Frame_Shift_Ins_p.N397fs			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGGCTGTGGTTGGCCAACAG	0.693																																																	0																																										SO:0001589	frameshift_variant	0				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1191dupA	11.37:g.494992_494992dupT	ENSP00000433999:p.Asn397fs		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.N397fs	ENST00000534797.1	37	c.1191_1190	CCDS7697.1	11																																																																																			RNH1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000023191		0.693	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1		0	52	0	-	NM_203389		494991	-1	tier1		no_errors	ENST00000354420	ensembl	human	known	74_37	frame_shift_ins	37.86	64	39	INS	0.002:0.006	T	T	494991	-	T	494990	7	5	40	1	0	1	1	0	0	0	0	0	13549	1252	44	0	202	0	RNH1	11	494990	Frame_Shift_Ins	INS	-	TCGA-JY-A6FH-01A-11D-A33E-09		494990	134511526	158	9815											
PHRF1	57661	genome.wustl.edu	37	chr11	601669	601669	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctaagaaacgccaacatCgagtgaagaagagaagaggg	18	4	13	6	2	1	5	0	1	1	4	2	8	1	5	1	1	2	0	1	1	6	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:601669C>T	ENST00000264555.5	+	10	1248	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	PHRF1_ENST00000413872.2_Nonsense_Mutation_p.R373*|PHRF1_ENST00000533464.1_Nonsense_Mutation_p.R370*|PHRF1_ENST00000416188.2_Nonsense_Mutation_p.R374*	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	374	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGCCAACATCGAGTGAAGAA	0.542																																																	0													76	88	85					11																	601669		2017	4169	6186	SO:0001587	stop_gained	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1120C>T	11.37:g.601669C>T	ENSP00000264555:p.Arg374*		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R374*	ENST00000264555.5	37	c.1120		11	.	.	.	.	.	.	.	.	.	.	C	37	6.494769	0.97612	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	.	.	.	4.7	4.7	0.59300	.	0.000000	0.38436	N	0.001696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.7059	8.7333	0.34512	0.0:0.8984:0.0:0.1016	.	.	.	.	X	374;373;374;370	.	ENSP00000264555:R374X	R	+	1	2	PHRF1	591669	0.086000	0.21541	0.029000	0.17559	0.007000	0.05969	1.417000	0.34770	2.435000	0.82474	0.563000	0.77884	CGA	PHRF1	-	NULL	ENSG00000070047		0.542	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	-	0	56	0	C	NM_020901		601669	1	tier1	-	no_errors	ENST00000264555	ensembl	human	known	74_37	nonsense	21.57	80	22	SNP	0.013	T	T	601669	C	T	601669	4	4	40	1	0	0	0	0	0	1	0	0	11900	876	31	1	1154	1	PHRF1	11	601669	Nonsense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	106679	601669	134404847	159	9816											
SLC22A18	5002	genome.wustl.edu	37	chr11	2924637	2924637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcaggatgagcgctctagGccggtcctcggtcatcttgc	5	9	14	13	4	3	1	1	1	2	0	5	2	4	2	2	5	2	2	2	5	1	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:2924637G>T	ENST00000380574.1	+	2	493	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SLC22A18_ENST00000347936.2_Missense_Mutation_p.G21V|SLC22A18_ENST00000312221.5_Missense_Mutation_p.G21V|SLC22A18_ENST00000449793.2_Missense_Mutation_p.G21V|SLC22A18AS_ENST00000533594.1_Intron|SLC22A18AS_ENST00000455942.2_Intron			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	21					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGCGCTCTAGGCCGGTCCTCG	0.632																																																	0													72	64	66					11																	2924637		2202	4299	6501	SO:0001583	missense	0			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"Solute carriers"	10964	protein-coding gene	gene with protein product		602631	"solute carrier family 22 (organic cation transporter), member 1-like"	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.62G>T	11.37:g.2924637G>T	ENSP00000369948:p.Gly21Val		O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.G21V	ENST00000380574.1	37	c.62	CCDS7740.1	11	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313156	0.23908	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574;ENST00000485423	T;T;T;T;T	0.58797	0.48;0.48;0.31;0.48;1.46	3.25	-1.96	0.07525	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.35828	0.0945	L	0.38175	1.15	0.09310	N	1	P;B	0.48911	0.917;0.112	B;B	0.35655	0.207;0.054	T	0.23261	-1.0193	9	0.46703	T	0.11	-6.9122	3.8942	0.09131	0.4259:0.1942:0.3799:0.0	.	21;21	E9PRM7;Q96BI1	.;S22AI_HUMAN	V	21	ENSP00000307859:G21V;ENSP00000311139:G21V;ENSP00000392072:G21V;ENSP00000369948:G21V;ENSP00000433019:G21V	ENSP00000311139:G21V	G	+	2	0	SLC22A18	2881213	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-1.125000	0.03257	-0.560000	0.06102	-0.448000	0.05591	GGC	SLC22A18	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000110628		0.632	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A18	HGNC	protein_coding	OTTHUMT00000027770.1		0	70	0	G	NM_183233		2924637	1			no_errors	ENST00000312221	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.009	T	T	2924637	G	T	2924637	3	4	40	1	0	0	0	0	1	0	0	0	14494	1203	42	3	64	3	SLC22A18	11	2924637	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2322968	2924637	132081879	160	9817											
OR10A2	341276	genome.wustl.edu	37	chr11	6891759	6891759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataattcacctgagggcaaGaagctgctatcattgtccta	13	11	8	9	0	2	2	2	1	0	1	3	2	3	2	2	1	2	3	2	1	6	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:6891759G>A	ENST00000307322.4	+	1	836	c.774G>A	c.(772-774)aaG>aaA	p.K258K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	258			K -> T (in dbSNP:rs7926083).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGAGGGCAAGAAGCTGCTAT	0.438																																																	0													189	177	181					11																	6891759		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.774G>A	11.37:g.6891759G>A			B2RNL9|Q6IFG9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K258	ENST00000307322.4	37	c.774	CCDS31415.1	11																																																																																			OR10A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170790		0.438	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1	-	0	34	0	G	NM_001004460		6891759	1	tier1	-	no_errors	ENST00000307322	ensembl	human	known	74_37	silent	37.88	41	25	SNP	0.953	A	A	6891759	G	A	6891759	2	1	40	1	0	0	0	0	0	0	0	1	10929	933	33	3		3	OR10A2	11	6891759	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3967122	6891759	128114757	161	9818											
GALNTL4	374378	genome.wustl.edu	37	chr11	11400788	11400788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcaccttgtccacatattCggtcagcttctccttcagtt	6	16	6	13	1	4	0	3	0	1	0	7	0	5	0	3	1	1	3	3	1	1	7	rs139800432		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:11400788C>T	ENST00000227756.4	-	4	1030	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	207	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCCACATATTCGGTCAGCTTC	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		21054	0		0	False		,,,				2504	0																0								C	LYS/GLU	1,4401	2.1+/-5.4	0,1,2200	160	129	139		619	3.2	0	11	dbSNP_134	139	0,8588		0,0,4294	no	missense	GALNTL4	NM_198516.2	56	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	benign	207/608	11400788	1,12989	2201	4294	6495	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.619G>A	11.37:g.11400788C>T	ENSP00000227756:p.Glu207Lys		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E207K	ENST00000227756.4	37	c.619	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449737	0.12223	2.27E-4	0.0	ENSG00000110328	ENST00000227756	T	0.60299	0.2	5.98	3.15	0.36227	Glycosyl transferase, family 2 (1);	0.459195	0.22753	N	0.056046	T	0.36358	0.0964	N	0.20401	0.57	0.31325	N	0.685512	B	0.02656	0.0	B	0.06405	0.002	T	0.25012	-1.0144	10	0.32370	T	0.25	.	5.3044	0.15795	0.0:0.5702:0.1372:0.2926	.	207	Q6P9A2	GLTL4_HUMAN	K	207	ENSP00000227756:E207K	ENSP00000227756:E207K	E	-	1	0	GALNTL4	11357364	0.764000	0.28473	0.007000	0.13788	0.318000	0.28184	1.668000	0.37481	0.443000	0.26582	-0.346000	0.07831	GAA	GALNT18	-	pfam_Glyco_trans_2	ENSG00000110328		0.552	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1		0	20	0	C	NM_198516		11400788	-1			no_errors	ENST00000227756	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.560	T	T	11400788	C	T	11400788	3	4	40	1	0	0	0	0	1	0	0	0	6248	893	31	1	1236	1	GALNTL4	11	11400788	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	4509029	11400788	123605728	162	9819											
NELL1	4745	genome.wustl.edu	37	chr11	21592431	21592431	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagaccaaaatggtcacaAgctgtatcgaagtggagaca	15	9	10	7	1	1	2	1	0	0	2	2	4	1	2	1	2	1	2	1	2	6	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:21592431A>T	ENST00000357134.5	+	18	2254	c.2102A>T	c.(2101-2103)aAg>aTg	p.K701M	NELL1_ENST00000298925.5_Missense_Mutation_p.K729M|NELL1_ENST00000325319.5_Missense_Mutation_p.K644M|NELL1_ENST00000532434.1_Missense_Mutation_p.K654M|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	701	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATGGTCACAAGCTGTATCGA	0.463																																																	0													198	183	188					11																	21592431		2203	4300	6503	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2102A>T	11.37:g.21592431A>T	ENSP00000349654:p.Lys701Met		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.K701M	ENST00000357134.5	37	c.2102	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114277	0.56505	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	6.16	6.16	0.99307	von Willebrand factor, type C (3);	0.124870	0.53938	D	0.000053	T	0.69369	0.3103	L	0.33753	1.03	0.41441	D	0.987924	P;P;P;P;P	0.50369	0.73;0.772;0.934;0.708;0.772	P;P;P;B;P	0.52758	0.487;0.622;0.708;0.424;0.622	T	0.68209	-0.5469	10	0.32370	T	0.25	-18.8263	12.5418	0.56174	0.9342:0.0:0.0658:0.0	.	644;729;246;654;701	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	M	729;701;644;654	ENSP00000298925:K729M;ENSP00000349654:K701M;ENSP00000317837:K644M;ENSP00000437170:K654M	ENSP00000298925:K729M	K	+	2	0	NELL1	21549007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.381000	0.52455	2.367000	0.80283	0.528000	0.53228	AAG	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.463	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0	48	0	A	NM_006157		21592431	1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	T	T	21592431	A	T	21592431	3	4	40	1	0	0	0	0	1	0	0	0	10372	72	3	5	2172	5	NELL1	11	21592431	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	10191643	21592431	113414085	163	9820											
LRRC4C	57689	genome.wustl.edu	37	chr11	40135924	40135924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactctgtaaatgttttagAtttgagtctcttgtacattg	10	19	7	5	0	2	2	0	1	2	1	3	2	2	2	0	0	2	3	0	0	5	8			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:40135924A>T	ENST00000278198.2	-	2	3882	c.1919T>A	c.(1918-1920)aTc>aAc	p.I640N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I640N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I640N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I640N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	640					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATGTTTTAGATTTGAGTCTC	0.299																																																	0													65	61	62					11																	40135924		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1919T>A	11.37:g.40135924A>T	ENSP00000278198:p.Ile640Asn		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I640N	ENST00000278198.2	37	c.1919	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	A	15.94	2.982311	0.53827	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.80281	0.4594	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81879	-0.0730	10	0.87932	D	0	.	15.8833	0.79219	1.0:0.0:0.0:0.0	.	640	Q9HCJ2	LRC4C_HUMAN	N	640	ENSP00000278198:I640N;ENSP00000436976:I640N;ENSP00000437132:I640N;ENSP00000434761:I640N	ENSP00000278198:I640N	I	-	2	0	LRRC4C	40092500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.343000	0.79666	0.533000	0.62120	ATC	LRRC4C	-	NULL	ENSG00000148948		0.299	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	32	0	A	NM_020929		40135924	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	44.21	53	42	SNP	1.000	T	T	40135924	A	T	40135924	3	4	40	1	0	0	0	0	1	0	0	0	9043	333	12	5	7	5	LRRC4C	11	40135924	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	18543493	40135924	94870592	164	9821											
EXT2	2132	genome.wustl.edu	37	chr11	44219380	44219380	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatctgtcctcttgtagaAgtggggcagcgtgagcaatc	9	12	12	8	1	2	2	0	1	2	1	4	2	3	2	1	2	2	3	1	2	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:44219380A>C	ENST00000343631.3	+	9	1436	c.1307A>C	c.(1306-1308)aAg>aCg	p.K436T	EXT2_ENST00000395673.3_Splice_Site_p.K469T|EXT2_ENST00000358681.4_Splice_Site_p.K446T|EXT2_ENST00000533608.1_Splice_Site_p.K436T			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	436					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTCTTGTAGAAGTGGGGCAGC	0.532			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	multiple exostoses type 2 gene		M	0													86	84	84					11																	44219380		2203	4299	6502	SO:0001630	splice_region_variant	0	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3513	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608210	"exostoses (multiple) 2", "exostosin 2"			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.1306-1A>C	11.37:g.44219380A>C			B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.K469T	ENST00000343631.3	37	c.1406	CCDS7908.1	11	.	.	.	.	.	.	.	.	.	.	A	11.02	1.515154	0.27123	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.94966	-3.54;-3.57;-3.56;-3.54	6.1	4.98	0.66077	.	0.250702	0.45126	D	0.000385	D	0.89577	0.6755	L	0.36672	1.1	0.54753	D	0.999982	B;B;B;B;B	0.28128	0.099;0.078;0.025;0.002;0.201	B;B;B;B;B	0.22386	0.016;0.035;0.012;0.002;0.039	D	0.85120	0.0968	10	0.20046	T	0.44	-3.0304	12.0741	0.53634	0.9334:0.0:0.0666:0.0	.	436;446;446;436;449	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	T	436;446;469;436	ENSP00000431173:K436T;ENSP00000351509:K446T;ENSP00000379032:K469T;ENSP00000342656:K436T	ENSP00000342656:K436T	K	+	2	0	EXT2	44175956	1.000000	0.71417	0.992000	0.48379	0.813000	0.45954	7.446000	0.80609	1.140000	0.42260	0.528000	0.53228	AAG	EXT2	-	NULL	ENSG00000151348		0.532	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXT2	HGNC	protein_coding	OTTHUMT00000390074.1	-	0	36	0	A	NM_000401	Missense_Mutation	44219380	1	tier1	-	no_errors	ENST00000395673	ensembl	human	known	74_37	missense	42.00	29	21	SNP	1.000	C	C	44219380	A	C	44219380	5	2	40	1	0	0	0	0	0	0	1	0	5340	86	3	4	1537	4	EXT2	11	44219380	Splice_Site	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	4083456	44219380	90787136	165	9822											
KIAA0652	9776	genome.wustl.edu	37	chr11	46690365	46690365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcctccagattccccaGagactgaatctcctctccag	10	10	6	15	0	2	4	0	2	2	2	7	5	5	4	6	0	0	0	6	0	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:46690365G>T	ENST00000434074.1	+	15	1941	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	ATG13_ENST00000451945.1_Nonsense_Mutation_p.E381*|ATG13_ENST00000529655.1_Nonsense_Mutation_p.E381*|ATG13_ENST00000530500.1_Nonsense_Mutation_p.E302*|ATG13_ENST00000528494.1_Nonsense_Mutation_p.E451*|ATG13_ENST00000526508.1_Nonsense_Mutation_p.E418*|ATG13_ENST00000524625.1_Nonsense_Mutation_p.E381*|ATG13_ENST00000312040.4_Nonsense_Mutation_p.E418*|ATG13_ENST00000359513.4_Nonsense_Mutation_p.E418*	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	418					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGATTCCCCAGAGACTGAATC	0.488																																																	0													117	105	109					11																	46690365		2201	4299	6500	SO:0001587	stop_gained	0			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"KIAA0652", "ATG13 autophagy related 13 homolog (S. cerevisiae)"	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1252G>T	11.37:g.46690365G>T	ENSP00000400642:p.Glu418*		B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Nonsense_Mutation	SNP	pfam_Autophagy-rel_p13	p.E418*	ENST00000434074.1	37	c.1252	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	G	4.139	0.024115	0.08006	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.95	3.11	0.35812	.	0.792060	0.12885	N	0.431079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-10.8796	11.9465	0.52930	0.1211:0.1059:0.7731:0.0	.	.	.	.	X	381;418;418;381;381;302;418;381;418;451;150	.	ENSP00000310321:E418X	E	+	1	0	ATG13	46646941	0.610000	0.26983	0.128000	0.21923	0.028000	0.11728	2.504000	0.45416	0.141000	0.18875	-1.872000	0.00552	GAG	ATG13	-	NULL	ENSG00000175224		0.488	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2		0	43	0	G	NM_014741		46690365	1			no_errors	ENST00000312040	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	0.025	T	T	46690365	G	T	46690365	4	4	40	1	0	0	0	0	0	1	0	0	8215	943	33	3	1306	3	KIAA0652	11	46690365	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2470985	46690365	88316151	166	9823											
OR4C12	283093	genome.wustl.edu	37	chr11	50003113	50003113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatggtcttatttaatCattatctgaagtcacttttt	10	19	5	7	0	5	1	3	1	2	0	5	1	5	1	0	1	0	1	0	1	5	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:50003113C>A	ENST00000335238.4	-	1	958	c.925G>T	c.(925-927)Gat>Tat	p.D309Y		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D309Y(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTTATTTAATCATTATCTGAA	0.378																																																	1	Substitution - Missense(1)	lung(1)											55	51	53					11																	50003113		2201	4296	6497	SO:0001583	missense	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.925G>T	11.37:g.50003113C>A	ENSP00000334418:p.Asp309Tyr		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D309Y	ENST00000335238.4	37	c.925	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	10.26	1.299919	0.23650	.	.	ENSG00000221954	ENST00000335238	T	0.01119	5.31	2.98	-5.97	0.02227	.	.	.	.	.	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	P	0.43973	0.823	B	0.36766	0.232	T	0.45512	-0.9256	9	0.87932	D	0	.	3.7601	0.08601	0.125:0.1229:0.1252:0.6269	.	309	Q96R67	OR4CC_HUMAN	Y	309	ENSP00000334418:D309Y	ENSP00000334418:D309Y	D	-	1	0	OR4C12	49959689	0.000000	0.05858	0.000000	0.03702	0.493000	0.33554	-0.549000	0.06041	-1.744000	0.01338	0.398000	0.26397	GAT	OR4C12	-	NULL	ENSG00000221954		0.378	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1		0	15	0	C	NM_001005270		50003113	-1			no_errors	ENST00000335238	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.000	A	A	50003113	C	A	50003113	3	1	40	1	0	0	0	0	1	0	0	0	11085	826	29	3	8	3	OR4C12	11	50003113	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	3312748	50003113	85003403	167	9824											
OR4C16	219428	genome.wustl.edu	37	chr11	55340159	55340159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcccttgttgaaacaaGcctgttcagaaacctatgtg	11	11	9	10	0	1	2	1	1	0	1	1	2	1	2	3	0	5	3	3	0	4	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:55340159G>A	ENST00000314634.3	+	1	556	c.556G>A	c.(556-558)Gcc>Acc	p.A186T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTTGAAACAAGCCTGTTCAGA	0.428																																																	0													102	96	98					11																	55340159		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.556G>A	11.37:g.55340159G>A	ENSP00000324913:p.Ala186Thr		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A186T	ENST00000314634.3	37	c.556	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525897	0.44969	.	.	ENSG00000181935	ENST00000314634	T	0.00193	8.58	4.98	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.095306	0.46145	D	0.000313	T	0.00412	0.0013	M	0.80982	2.52	0.24933	N	0.991901	P	0.41214	0.742	P	0.51453	0.67	T	0.29488	-1.0010	10	0.72032	D	0.01	.	10.7795	0.46369	0.0:0.0:0.8109:0.1891	.	186	Q8NGL9	OR4CG_HUMAN	T	186	ENSP00000324913:A186T	ENSP00000324913:A186T	A	+	1	0	OR4C16	55096735	0.000000	0.05858	0.865000	0.33974	0.320000	0.28249	-0.186000	0.09670	2.595000	0.87683	0.549000	0.68633	GCC	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181935		0.428	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	40	0	G	NM_001004701		55340159	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	45.21	40	33	SNP	0.563	A	A	55340159	G	A	55340159	3	1	40	1	0	0	0	0	1	0	0	0	11088	971	34	3	558	3	OR4C16	11	55340159	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5337046	55340159	79666357	168	9825											
OR5L1	219437	genome.wustl.edu	37	chr11	55579180	55579180	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcctcaataattgtgccaAaaatgttggctaatatcttt	13	15	5	8	0	2	0	1	0	1	0	3	0	3	0	2	1	1	2	2	1	6	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:55579180A>C	ENST00000333973.2	+	1	327	c.238A>C	c.(238-240)Aaa>Caa	p.K80Q		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AATTGTGCCAAAAATGTTGGC	0.453																																																	0													233	215	221					11																	55579180		2200	4296	6496	SO:0001583	missense	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.238A>C	11.37:g.55579180A>C	ENSP00000335529:p.Lys80Gln		B2RNK6|Q6IFD0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K80Q	ENST00000333973.2	37	c.238	CCDS31509.1	11	.	.	.	.	.	.	.	.	.	.	a	14.01	2.406690	0.42715	.	.	ENSG00000186117	ENST00000333973	T	0.03301	3.98	4.32	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.118214	0.37906	N	0.001882	T	0.04588	0.0125	N	0.25890	0.77	0.09310	N	1	P	0.45672	0.864	P	0.46885	0.53	T	0.32824	-0.9892	10	0.52906	T	0.07	-28.0393	9.4294	0.38601	0.8213:0.1787:0.0:0.0	.	80	Q8NGL2	OR5L1_HUMAN	Q	80	ENSP00000335529:K80Q	ENSP00000335529:K80Q	K	+	1	0	OR5L1	55335756	0.779000	0.28652	0.009000	0.14445	0.033000	0.12548	4.681000	0.61663	1.608000	0.50180	0.358000	0.22013	AAA	OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186117		0.453	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	-	0	64	0	A	NM_001004738		55579180	1	tier1	-	no_errors	ENST00000333973	ensembl	human	known	74_37	missense	45.92	53	45	SNP	0.019	C	C	55579180	A	C	55579180	3	2	40	1	0	0	0	0	1	0	0	0	11209	15	1	4	240	4	OR5L1	11	55579180	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	239021	55579180	79427336	169	9826											
OR5W2	390148	genome.wustl.edu	37	chr11	55681965	55681965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaatgatataaacagccaAgaatacagcaaatagggtca	20	8	7	6	0	1	2	1	1	0	1	1	2	1	2	1	1	4	1	1	1	9	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:55681965A>C	ENST00000344514.1	-	1	93	c.94T>G	c.(94-96)Ttg>Gtg	p.L32V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAAACAGCCAAGAATACAGCA	0.353																																					Melanoma(48;171 1190 15239 43886 49348)												0													66	69	68					11																	55681965		2201	4296	6497	SO:0001583	missense	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.94T>G	11.37:g.55681965A>C	ENSP00000342448:p.Leu32Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L32V	ENST00000344514.1	37	c.94	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	A	11.00	1.510871	0.27036	.	.	ENSG00000187612	ENST00000344514	T	0.01902	4.57	5.01	1.98	0.26296	.	0.000000	0.31082	N	0.008285	T	0.05914	0.0154	M	0.89030	3	0.09310	N	1	B	0.22480	0.07	B	0.30782	0.12	T	0.16012	-1.0417	10	0.66056	D	0.02	.	7.9424	0.29965	0.089:0.3056:0.6055:0.0	.	32	Q8NH69	OR5W2_HUMAN	V	32	ENSP00000342448:L32V	ENSP00000342448:L32V	L	-	1	2	OR5W2	55438541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.109000	0.10840	0.114000	0.18032	-0.384000	0.06662	TTG	OR5W2	-	prints_GPCR_Rhodpsn	ENSG00000187612		0.353	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	-	0	41	0	A	NM_001001960		55681965	-1	tier1	-	no_errors	ENST00000344514	ensembl	human	known	74_37	missense	43.53	48	37	SNP	0.017	C	C	55681965	A	C	55681965	3	2	40	1	0	0	0	0	1	0	0	0	11224	69	3	4	840	4	OR5W2	11	55681965	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	102785	55681965	79324551	170	9827											
OR5T3	390154	genome.wustl.edu	37	chr11	56020653	56020653	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagtttgaggaacaaagaAgtaaaaaaggcagtgaagaa	21	7	11	2	0	0	4	0	2	0	2	0	5	0	5	0	2	1	3	0	2	10	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:56020653A>C	ENST00000303059.3	+	1	978	c.978A>C	c.(976-978)gaA>gaC	p.E326D		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGAACAAAGAAGTAAAAAAGG	0.323																																																	0													42	40	41					11																	56020653		2201	4293	6494	SO:0001583	missense	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.978A>C	11.37:g.56020653A>C	ENSP00000305403:p.Glu326Asp		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E326D	ENST00000303059.3	37	c.978	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.863584	0.00552	.	.	ENSG00000172489	ENST00000303059	T	0.37411	1.2	4.32	-1.11	0.09840	.	0.000000	0.49305	N	0.000160	T	0.09642	0.0237	N	0.03304	-0.355	0.22280	N	0.999237	B	0.02656	0.0	B	0.04013	0.001	T	0.19031	-1.0318	10	0.07482	T	0.82	.	1.359	0.02188	0.2179:0.1608:0.3955:0.2259	.	326	Q8NGG3	OR5T3_HUMAN	D	326	ENSP00000305403:E326D	ENSP00000305403:E326D	E	+	3	2	OR5T3	55777229	0.002000	0.14202	0.911000	0.35937	0.014000	0.08584	-1.025000	0.03600	-0.001000	0.14495	-1.089000	0.02181	GAA	OR5T3	-	prints_GPCR_Rhodpsn	ENSG00000172489		0.323	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	-	0	21	0	A	NM_001004747		56020653	1	tier1	-	no_errors	ENST00000303059	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.884	C	C	56020653	A	C	56020653	3	2	40	1	0	0	0	0	1	0	0	0	11222	69	3	4	980	4	OR5T3	11	56020653	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	338688	56020653	78985863	171	9828											
OR8J1	219477	genome.wustl.edu	37	chr11	56128223	56128223	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttatgtattctctgtgtcTtattgctcttctaatataat	8	22	4	7	0	5	0	0	0	5	0	6	0	5	0	0	0	1	2	0	0	6	9			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:56128223T>G	ENST00000303039.3	+	1	533	c.501T>G	c.(499-501)tcT>tcG	p.S167S		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TCTCTGTGTCTTATTGCTCTT	0.398																																																	0													118	107	111					11																	56128223		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"GPCR / Class A : Olfactory receptors"	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.501T>G	11.37:g.56128223T>G			B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S167	ENST00000303039.3	37	c.501	CCDS31529.1	11																																																																																			OR8J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172487		0.398	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	-	0	24	0	T	NM_001005205		56128223	1	tier1	-	no_errors	ENST00000303039	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.000	G	G	56128223	T	G	56128223	2	3	40	1	0	0	0	0	0	0	0	1	11280	1596	56	4		4	OR8J1	11	56128223	Silent	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	107570	56128223	78878293	172	9829											
MAP4K2	5871	genome.wustl.edu	37	chr11	64559877	64559877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttggtgtcaggaatcttgGtggacagagcaaagcgcctg	9	10	14	8	1	2	1	1	0	1	1	2	3	2	3	1	4	2	1	1	4	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:64559877G>T	ENST00000294066.2	-	25	1860	c.1769C>A	c.(1768-1770)aCc>aAc	p.T590N	MAP4K2_ENST00000377350.3_Missense_Mutation_p.T582N	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	590	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGAATCTTGGTGGACAGAGC	0.637																																																	0													22	22	22					11																	64559877		2200	4296	6496	SO:0001583	missense	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1769C>A	11.37:g.64559877G>T	ENSP00000294066:p.Thr590Asn		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.T590N	ENST00000294066.2	37	c.1769	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	G	12.54	1.967191	0.34754	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.04706	3.57;3.57	4.7	2.64	0.31445	Citron-like (3);	0.360630	0.29342	N	0.012423	T	0.03305	0.0096	N	0.13098	0.295	0.31066	N	0.713541	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.10823	-1.0613	10	0.56958	D	0.05	.	9.1942	0.37217	0.0:0.0:0.6052:0.3948	.	582;590	Q86VU3;Q12851	.;M4K2_HUMAN	N	590;582	ENSP00000294066:T590N;ENSP00000366567:T582N	ENSP00000294066:T590N	T	-	2	0	MAP4K2	64316453	0.265000	0.24102	1.000000	0.80357	0.971000	0.66376	1.070000	0.30653	0.965000	0.38133	0.456000	0.33151	ACC	MAP4K2	-	pfam_Citron,smart_Citron	ENSG00000168067		0.637	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	-	0	76	0	G	NM_004579		64559877	-1	tier1	-	no_errors	ENST00000294066	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.999	T	T	64559877	G	T	64559877	3	4	40	1	0	0	0	0	1	0	0	0	9298	1261	44	3	725	3	MAP4K2	11	64559877	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	8431654	64559877	70446639	173	9830											
PDE2A	5138	genome.wustl.edu	37	chr11	72290624	72290624	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccgtgggtgttgaggAtggcgatggcctgagcaaag	8	8	18	7	2	0	2	0	2	0	0	0	4	0	3	2	4	3	3	2	4	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:72290624A>C	ENST00000334456.5	-	26	2455	c.2210T>G	c.(2209-2211)aTc>aGc	p.I737S	PDE2A_ENST00000544570.1_Missense_Mutation_p.I730S|PDE2A_ENST00000418754.2_Missense_Mutation_p.I622S|PDE2A_ENST00000444035.2_Missense_Mutation_p.I728S|PDE2A_ENST00000376450.3_Missense_Mutation_p.I481S|PDE2A_ENST00000540345.1_Missense_Mutation_p.I728S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	737	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	GGTGTTGAGGATGGCGATGGC	0.617																																																	0													51	54	53					11																	72290624		2200	4293	6493	SO:0001583	missense	0			U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"Phosphodiesterases"	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2210T>G	11.37:g.72290624A>C	ENSP00000334910:p.Ile737Ser		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.I737S	ENST00000334456.5	37	c.2210	CCDS8216.1	11	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416613	0.83449	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000420501;ENST00000441209;ENST00000542223	D;D;D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.93	4.93	0.64822	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	H	0.94385	3.53	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0	D	0.94462	0.7677	10	0.87932	D	0	.	12.5264	0.56089	1.0:0.0:0.0:0.0	.	622;737;728;730;737;481	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	S	737;481;728;806;730;622;728;116;278;168	ENSP00000334910:I737S;ENSP00000365633:I481S;ENSP00000411657:I728S;ENSP00000442256:I730S;ENSP00000410310:I622S;ENSP00000446399:I728S;ENSP00000388997:I116S;ENSP00000392457:I278S;ENSP00000440834:I168S	ENSP00000334910:I737S	I	-	2	0	PDE2A	71968272	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.035000	0.93752	1.852000	0.53769	0.402000	0.26972	ATC	PDE2A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	ENSG00000186642		0.617	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE2A	HGNC	protein_coding	OTTHUMT00000219839.2	-	0	112	0	A	NM_002599		72290624	-1	tier1	-	no_errors	ENST00000334456	ensembl	human	known	74_37	missense	20.00	72	18	SNP	1.000	C	C	72290624	A	C	72290624	3	2	40	1	0	0	0	0	1	0	0	0	11675	333	12	4	639	4	PDE2A	11	72290624	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	7730747	72290624	62715892	174	9831											
KIAA1377	57562	genome.wustl.edu	37	chr11	101829032	101829032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggctactagcaaaaatGtgttccagcttaaactggag	12	11	9	9	0	0	0	0	0	0	0	1	1	1	1	2	2	4	4	2	2	6	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:101829032G>T	ENST00000263468.8	+	5	910	c.640G>T	c.(640-642)Gtg>Ttg	p.V214L	KIAA1377_ENST00000537689.1_Missense_Mutation_p.V15L	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	214										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TAGCAAAAATGTGTTCCAGCT	0.323																																																	0													136	146	143					11																	101829032		2203	4299	6502	SO:0001583	missense	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.640G>T	11.37:g.101829032G>T	ENSP00000263468:p.Val214Leu		Q4G0U6	Missense_Mutation	SNP	NULL	p.V214L	ENST00000263468.8	37	c.640	CCDS31658.1	11	.	.	.	.	.	.	.	.	.	.	G	5.898	0.349788	0.11182	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.05786	3.39;3.39	5.68	1.29	0.21616	.	1.138710	0.06635	N	0.759990	T	0.04182	0.0116	L	0.31207	0.915	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.47787	-0.9090	10	0.12430	T	0.62	0.1199	0.9805	0.01435	0.2747:0.2324:0.3504:0.1425	.	214	Q9P2H0	K1377_HUMAN	L	214;15	ENSP00000263468:V214L;ENSP00000443184:V15L	ENSP00000263468:V214L	V	+	1	0	KIAA1377	101334242	0.300000	0.24435	0.632000	0.29296	0.932000	0.56968	0.585000	0.23879	0.763000	0.33175	0.650000	0.86243	GTG	KIAA1377	-	NULL	ENSG00000110318		0.323	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	-	0	33	0	G	NM_020802		101829032	1	tier1	-	no_errors	ENST00000263468	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.003	T	T	101829032	G	T	101829032	3	4	40	1	0	0	0	0	1	0	0	0	8254	1377	48	3	658	3	KIAA1377	11	101829032	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	29538408	101829032	33177484	175	9832											
GRIA4	2893	genome.wustl.edu	37	chr11	105797615	105797615	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacctggccaaacaaacaGaaattgcctatggaacactg	17	6	8	10	0	0	2	0	0	0	2	0	3	0	3	3	2	4	0	3	2	6	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:105797615G>T	ENST00000530497.1	+	12	1996	c.1996G>T	c.(1996-1998)Gaa>Taa	p.E666*	GRIA4_ENST00000525187.1_Nonsense_Mutation_p.E666*|GRIA4_ENST00000393127.2_Nonsense_Mutation_p.E666*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.E666*			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	666					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.E666K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CAAACAAACAGAAATTGCCTA	0.373																																																	2	Substitution - Missense(2)	skin(2)											78	74	75					11																	105797615		2202	4298	6500	SO:0001587	stop_gained	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1996G>T	11.37:g.105797615G>T	ENSP00000435775:p.Glu666*		Q86XE8	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E666*	ENST00000530497.1	37	c.1996	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	43	10.449685	0.99407	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	.	.	.	5.67	5.67	0.87782	.	0.064524	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	.	.	.	X	666	.	ENSP00000282499:E666X	E	+	1	0	GRIA4	105302825	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.836000	0.97738	0.655000	0.94253	GAA	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152578		0.373	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0	28	0	G			105797615	1			no_errors	ENST00000282499	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	1.000	T	T	105797615	G	T	105797615	4	4	40	1	0	0	0	0	0	1	0	0	6797	943	33	3	2079	3	GRIA4	11	105797615	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3968583	105797615	29208901	176	9833											
ZC3H12C	85463	genome.wustl.edu	37	chr11	110007878	110007878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaactggagtttgcacttaAgttaggttattctgaagaac	14	13	9	5	0	1	2	0	1	1	1	1	3	1	3	0	2	3	4	0	2	7	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:110007878A>C	ENST00000278590.3	+	2	563	c.512A>C	c.(511-513)aAg>aCg	p.K171T	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K172T|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.K140T	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	171							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTGCACTTAAGTTAGGTTAT	0.383																																																	0													70	65	67					11																	110007878		1852	4102	5954	SO:0001583	missense	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.512A>C	11.37:g.110007878A>C	ENSP00000278590:p.Lys171Thr		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.K171T	ENST00000278590.3	37	c.512	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	a	21.8	4.197455	0.79015	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.59224	0.28;0.28;0.31	5.46	5.46	0.80206	.	0.871488	0.09011	U	0.861548	T	0.80711	0.4675	M	0.84683	2.71	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.85130	0.991;0.997;0.991	T	0.76895	-0.2790	10	0.87932	D	0	-15.8141	15.5248	0.75894	1.0:0.0:0.0:0.0	.	172;171;171	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	T	171;172;140	ENSP00000278590:K171T;ENSP00000431821:K172T;ENSP00000413094:K140T	ENSP00000278590:K171T	K	+	2	0	ZC3H12C	109513088	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.958000	0.93099	2.066000	0.61787	0.528000	0.53228	AAG	ZC3H12C	-	NULL	ENSG00000149289		0.383	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	-	0	31	0	A	NM_033390		110007878	1	tier1	-	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	66.67	10	20	SNP	1.000	C	C	110007878	A	C	110007878	3	2	40	1	0	0	0	0	1	0	0	0	17611	72	3	4	518	4	ZC3H12C	11	110007878	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	4210263	110007878	24998638	177	9834											
GRAMD1B	57476	genome.wustl.edu	37	chr11	123483491	123483491	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccacagagctgcgctatCgaaaacagccctgggggtta	10	8	11	12	2	1	1	0	0	1	1	3	2	1	1	2	2	4	3	2	2	4	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:123483491C>T	ENST00000529750.1	+	14	1840	c.1513C>T	c.(1513-1515)Cga>Tga	p.R505*	GRAMD1B_ENST00000456860.2_Nonsense_Mutation_p.R512*|GRAMD1B_ENST00000450171.2_Nonsense_Mutation_p.R196*|GRAMD1B_ENST00000322282.7_Nonsense_Mutation_p.R505*	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	505						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCTGCGCTATCGAAAACAGCC	0.532																																																	0													44	46	45					11																	123483491		1938	4135	6073	SO:0001587	stop_gained	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.1513C>T	11.37:g.123483491C>T	ENSP00000436500:p.Arg505*		Q6UW85|Q9ULL9	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.R505*	ENST00000529750.1	37	c.1513	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	C	42	9.563996	0.99205	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000450171	.	.	.	5.42	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2881	0.60255	0.2348:0.7652:0.0:0.0	.	.	.	.	X	512;512;505;505;465;196	.	ENSP00000325628:R505X	R	+	1	2	GRAMD1B	122988701	0.983000	0.35010	0.749000	0.31150	0.977000	0.68977	2.251000	0.43187	2.699000	0.92147	0.563000	0.77884	CGA	GRAMD1B	-	NULL	ENSG00000023171		0.532	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0	46	0	C	XM_370660		123483491	1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	nonsense	74.00	13	37	SNP	0.996	T	T	123483491	C	T	123483491	4	4	40	1	0	0	0	0	0	1	0	0	6775	876	31	1	1567	1	GRAMD1B	11	123483491	Nonsense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	13475613	123483491	11523025	178	9835											
TMEM225	338661	genome.wustl.edu	37	chr11	123755245	123755245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtatatatttattttGaggaatcagataggtgaatt	13	17	10	1	0	1	3	1	2	0	1	1	5	1	4	0	2	0	2	0	2	7	10			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr11:123755245G>T	ENST00000375026.2	-	2	496	c.280C>A	c.(280-282)Caa>Aaa	p.Q94K		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	94					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.Q94E(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TATTTATTTTGAGGAATCAGA	0.428																																																	1	Substitution - Missense(1)	lung(1)											112	118	116					11																	123755245		2202	4299	6501	SO:0001583	missense	0			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"PMP22 claudin domain containing", "protein phosphatase 1, regulatory subunit 154"						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.280C>A	11.37:g.123755245G>T	ENSP00000364166:p.Gln94Lys			Missense_Mutation	SNP	NULL	p.Q94K	ENST00000375026.2	37	c.280	CCDS31697.1	11	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453752	0.12283	.	.	ENSG00000204300	ENST00000375026;ENST00000528595	T;T	0.67698	-0.28;-0.28	5.17	-0.403	0.12400	.	0.453729	0.18966	N	0.126243	T	0.58047	0.2095	L	0.29908	0.895	0.09310	N	0.999998	B	0.31705	0.336	B	0.42214	0.38	T	0.57785	-0.7751	10	0.66056	D	0.02	-3.3319	10.2017	0.43087	0.0809:0.5489:0.3701:0.0	.	94	Q6GV28	TM225_HUMAN	K	94;44	ENSP00000364166:Q94K;ENSP00000431282:Q44K	ENSP00000364166:Q94K	Q	-	1	0	TMEM225	123260455	0.297000	0.24408	0.658000	0.29665	0.025000	0.11179	0.265000	0.18515	0.056000	0.16144	-0.819000	0.03115	CAA	TMEM225	-	NULL	ENSG00000204300		0.428	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	HGNC	protein_coding	OTTHUMT00000387260.1		0	43	0	G	NM_001013743		123755245	-1			no_errors	ENST00000375026	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.155	T	T	123755245	G	T	123755245	3	4	40	1	0	0	0	0	1	0	0	0	16194	1299	45	3	409	3	TMEM225	11	123755245	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	271754	123755245	11251271	179	9836											
FBXL14	144699	genome.wustl.edu	37	chr12	1675955	1675955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttctcacagtgaataatgGagaaaaatcccctcgtgcct	13	10	8	10	1	1	2	1	1	1	1	4	3	2	2	3	1	1	1	3	1	4	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:1675955G>T	ENST00000339235.3	-	2	1314	c.1216C>A	c.(1216-1218)Cca>Aca	p.P406T		NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	406					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			gtgaataatggagaaaaatcc	0.527																																																	0													118	104	109					12																	1675955		2203	4300	6503	SO:0001583	missense	0			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"F-boxes / Leucine-rich repeats"	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1216C>A	12.37:g.1675955G>T	ENSP00000344855:p.Pro406Thr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,pfam_Leu-rich_rpt_2,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.P406T	ENST00000339235.3	37	c.1216	CCDS8509.1	12	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.052953	0.01965	.	.	ENSG00000171823	ENST00000339235	T	0.06068	3.35	0.853	0.853	0.19001	.	1.707390	0.04788	U	0.431073	T	0.05456	0.0144	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.28530	T	0.3	.	5.0049	0.14282	0.0:0.0:1.0:0.0	.	406	Q8N1E6	FXL14_HUMAN	T	406	ENSP00000344855:P406T	ENSP00000344855:P406T	P	-	1	0	FBXL14	1546216	0.974000	0.33945	0.204000	0.23530	0.030000	0.12068	0.133000	0.15912	0.742000	0.32697	0.561000	0.74099	CCA	FBXL14	-	NULL	ENSG00000171823		0.527	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	-	0	74	0	G	NM_152441		1675955	-1	tier1	-	no_errors	ENST00000339235	ensembl	human	known	74_37	missense	6.25	59	4	SNP	0.337	T	T	1675955	G	T	1675955	3	4	40	1	0	0	0	0	1	0	0	0	5732	1174	41	3	44	3	FBXL14	12	1675955	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		1675955	132175940	180	9837											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21015743	21015743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattggctttgcactgggaTctctgtttgctaaaatgtac	8	16	9	8	0	2	0	1	0	1	0	3	1	2	1	0	2	3	5	0	2	3	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:21015743T>C	ENST00000381545.3	+	8	901	c.682T>C	c.(682-684)Tct>Cct	p.S228P	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S228P|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S228P|LST3_ENST00000540229.1_Missense_Mutation_p.S228P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	228					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TGCACTGGGATCTCTGTTTGC	0.363																																																	0													188	163	171					12																	21015743		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.682T>C	12.37:g.21015743T>C	ENSP00000370956:p.Ser228Pro		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S228P	ENST00000381545.3	37	c.682	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	T	24.1	4.497337	0.85069	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28	3.9	1.17	0.20885	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.74275	0.3695	M	0.86268	2.805	0.80722	D	1	D;D;D	0.76494	0.999;0.988;0.988	D;D;P	0.78314	0.991;0.923;0.873	T	0.75722	-0.3218	10	0.87932	D	0	.	10.2202	0.43192	0.0:0.0:0.3183:0.6817	.	228;228;228	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	P	228;228;228;228;52;228	ENSP00000442000:S228P;ENSP00000261196:S228P;ENSP00000370956:S228P;ENSP00000451758:S228P;ENSP00000443225:S52P;ENSP00000441269:S228P	ENSP00000441269:S228P	S	+	1	0	SLCO1B3;RP11-545J16.1	20907010	1.000000	0.71417	0.138000	0.22173	0.828000	0.46876	3.550000	0.53691	0.361000	0.24292	0.377000	0.23210	TCT	SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.363	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	58	0	T	NM_019844		21015743	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.995	C	C	21015743	T	C	21015743	3	2	40	1	0	0	0	0	1	0	0	0	14769	1435	50	4	704	4	SLCO1B3	12	21015743	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	19339788	21015743	112836152	181	9838											
CAPRIN2	65981	genome.wustl.edu	37	chr12	30876222	30876222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgaagaaaatcactttGactggacagattttgttctt	11	16	7	7	0	3	4	1	2	2	2	3	5	3	5	0	1	0	1	0	1	3	6	rs79465544		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:30876222G>T	ENST00000395805.2	-	11	2561	c.2014C>A	c.(2014-2016)Caa>Aaa	p.Q672K	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q672K|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Q339K|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Q672K|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q672K	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAATCACTTTGACTGGACAGA	0.358																																																	0													89	87	88					12																	30876222		2202	4300	6502	SO:0001583	missense	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2014C>A	12.37:g.30876222G>T	ENSP00000379150:p.Gln672Lys			Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Q672K	ENST00000395805.2	37	c.2014	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614758	0.66672	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.72167	2.04;-0.63;1.79;2.04;2.04;2.04;2.04	4.47	3.57	0.40892	.	0.385336	0.29369	N	0.012351	T	0.75428	0.3848	L	0.44542	1.39	0.29647	N	0.844285	D;D;D;D;D;D	0.69078	0.996;0.997;0.993;0.984;0.991;0.984	P;D;P;P;P;P	0.64237	0.875;0.923;0.712;0.828;0.801;0.76	T	0.72010	-0.4419	10	0.46703	T	0.11	-0.7249	12.4761	0.55814	0.0:0.0:0.8323:0.1677	.	398;672;672;672;672;672	E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;CAPR2_HUMAN;.;.	K	418;672;672;672;339;672;398;591	ENSP00000415407:Q418K;ENSP00000298892:Q672K;ENSP00000379150:Q672K;ENSP00000251071:Q672K;ENSP00000309785:Q339K;ENSP00000391479:Q672K;ENSP00000438010:Q591K	ENSP00000251071:Q672K	Q	-	1	0	CAPRIN2	30767489	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	4.214000	0.58527	1.218000	0.43458	0.650000	0.86243	CAA	CAPRIN2	-	pfam_Caprin-1_C	ENSG00000110888		0.358	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	-	0	49	0	G	NM_023925		30876222	-1	tier1	rs79465544	no_errors	ENST00000251071	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.999	T	T	30876222	G	T	30876222	3	4	40	1	0	0	0	0	1	0	0	0	2643	1299	45	3	1401	3	CAPRIN2	12	30876222	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	9860479	30876222	102975673	182	9839											
CPNE8	144402	genome.wustl.edu	37	chr12	39047739	39047739	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgggggaggcgcaggtGatggcttgattcctcgggct	5	11	18	7	2	0	2	0	2	0	0	2	3	1	3	1	6	0	4	1	6	1	3	rs146804518		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:39047739G>T	ENST00000331366.5	-	20	1736	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Nonsense_Mutation_p.S216*|CPNE8_ENST00000360449.3_Nonsense_Mutation_p.S535*	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	547						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGGCGCAGGTGATGGCTTGAT	0.468																																																	0													107	100	102					12																	39047739		2203	4300	6503	SO:0001587	stop_gained	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1640C>A	12.37:g.39047739G>T	ENSP00000329748:p.Ser547*		Q2TB41|Q86VY2	Nonsense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.S547*	ENST00000331366.5	37	c.1640	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	g	34	5.360385	0.95877	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	.	.	.	4.82	3.93	0.45458	.	0.229124	0.38326	N	0.001722	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-5.3086	9.0571	0.36412	0.1732:0.0:0.8268:0.0	.	.	.	.	X	547;216;535	.	ENSP00000329748:S547X	S	-	2	0	CPNE8	37334006	0.033000	0.19621	0.255000	0.24374	0.485000	0.33311	1.187000	0.32090	1.162000	0.42619	-0.119000	0.15052	TCA	CPNE8	-	NULL	ENSG00000139117		0.468	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0	32	0	G	NM_153634		39047739	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	nonsense	11.76	30	4	SNP	0.001	T	T	39047739	G	T	39047739	4	4	40	1	0	0	0	0	0	1	0	0	3825	1294	45	3	58	3	CPNE8	12	39047739	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	8171517	39047739	94804156	183	9840											
ENDOU	8909	genome.wustl.edu	37	chr12	48111404	48111404	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaaggcttcgtagcaGcggccctggcaggaggtggg	7	8	17	9	2	1	0	1	0	0	0	2	1	1	1	1	6	2	4	1	6	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:48111404G>T	ENST00000422538.3	-	4	401	c.279C>A	c.(277-279)cgC>cgA	p.R93R	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_De_novo_Start_OutOfFrame|ENDOU_ENST00000229003.3_Silent_p.R52R|ENDOU_ENST00000545824.2_Silent_p.R30R	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	93	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CTTCGTAGCAGCGGCCCTGGC	0.587											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													122	123	122					12																	48111404		2203	4300	6503	SO:0001819	synonymous_variant	0			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"Serine peptidases / Serine peptidases"	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.279C>A	12.37:g.48111404G>T		952	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Silent	SNP	pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.R52	ENST00000422538.3	37	c.156	CCDS53785.1	12																																																																																			ENDOU	-	pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	ENSG00000111405		0.587	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENDOU	HGNC	protein_coding	OTTHUMT00000405352.1	-	0	58	0	G	NM_006025.2		48111404	-1	tier1	-	no_errors	ENST00000229003	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	T	T	48111404	G	T	48111404	2	4	40	1	0	0	0	0	0	0	0	1	5132	958	34	3		3	ENDOU	12	48111404	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	9063665	48111404	85740491	184	9841											
ATF7	11016	genome.wustl.edu	37	chr12	53926321	53926321	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttctgatggtatagggtgGccagagggagaaatggagcc	10	8	17	6	0	1	3	0	1	1	2	1	5	1	4	2	5	1	2	2	5	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:53926321G>T	ENST00000548446.2	-	8	892	c.780C>A	c.(778-780)ggC>ggA	p.G260G	RP11-793H13.10_ENST00000591834.1_Silent_p.G249G|ATF7_ENST00000415113.1_Silent_p.G228G|ATF7_ENST00000420353.2_Silent_p.G249G|ATF7_ENST00000456903.4_Silent_p.G249G|ATF7_ENST00000328463.7_Silent_p.G260G			P17544	ATF7_HUMAN	activating transcription factor 7	260	Transactivation domain.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GTATAGGGTGGCCAGAGGGAG	0.527																																																	0													62	60	61					12																	53926321		1921	4137	6058	SO:0001819	synonymous_variant	0			X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"basic leucine zipper proteins"	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.780C>A	12.37:g.53926321G>T			A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Silent	SNP	pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.G260	ENST00000548446.2	37	c.780		12																																																																																			ATF7	-	pirsf_TF_cAMP-dep	ENSG00000170653		0.527	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	ATF7	HGNC	protein_coding	OTTHUMT00000406302.2		0	62	0	G	NM_001130059		53926321	-1			no_errors	ENST00000328463	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	53926321	G	T	53926321	2	4	40	1	0	0	0	0	0	0	0	1	1087	1190	42	3		3	ATF7	12	53926321	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5814917	53926321	79925574	185	9842											
GNS	2799	genome.wustl.edu	37	chr12	65141586	65141586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcttggatcttctgccagGacttactactgcagttcccc	6	14	8	13	0	3	0	0	0	3	0	4	2	4	2	3	2	4	3	3	2	2	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:65141586G>T	ENST00000258145.3	-	3	535	c.365C>A	c.(364-366)tCc>tAc	p.S122Y	GNS_ENST00000418919.2_Missense_Mutation_p.S66Y|GNS_ENST00000542058.1_Missense_Mutation_p.S102Y|GNS_ENST00000543646.1_Missense_Mutation_p.S154Y	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	122					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CTTCTGCCAGGACTTACTACT	0.448																																																	0													205	191	196					12																	65141586		2203	4300	6503	SO:0001583	missense	0				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"Sanfilippo disease IIID", "N-acetylglucosamine-6-sulfatase"	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.365C>A	12.37:g.65141586G>T	ENSP00000258145:p.Ser122Tyr		B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.S122Y	ENST00000258145.3	37	c.365	CCDS8970.1	12	.	.	.	.	.	.	.	.	.	.	G	8.784	0.928896	0.18131	.	.	ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825;ENST00000545471;ENST00000545273	D;D;D;D;D	0.99895	-4.01;-4.01;-4.01;-4.01;-7.59	5.5	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.404895	0.28521	N	0.015042	D	0.98852	0.9612	N	0.10874	0.06	0.09310	N	0.999996	B;B;B;B	0.12013	0.001;0.005;0.0;0.002	B;B;B;B	0.15052	0.011;0.012;0.009;0.002	D	0.96264	0.9193	9	.	.	.	-13.6085	12.9938	0.58635	0.1222:0.0:0.8778:0.0	.	102;154;122;66	B4DYH8;F6S8M0;P15586;Q7Z3X3	.;.;GNS_HUMAN;.	Y	66;122;154;102;39;59;46	ENSP00000413130:S66Y;ENSP00000258145:S122Y;ENSP00000438497:S154Y;ENSP00000444819:S102Y;ENSP00000445055:S46Y	.	S	-	2	0	GNS	63427853	1.000000	0.71417	0.047000	0.18901	0.198000	0.23893	5.312000	0.65792	2.765000	0.95021	0.650000	0.86243	TCC	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	ENSG00000135677		0.448	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	-	0	48	0	G			65141586	-1	tier1	-	no_errors	ENST00000258145	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.259	T	T	65141586	G	T	65141586	3	4	40	1	0	0	0	0	1	0	0	0	6576	1174	41	3	1341	3	GNS	12	65141586	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	11215265	65141586	68710309	186	9843											
ATP2B1	490	genome.wustl.edu	37	chr12	90015477	90015477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattctgttcattgtcaaaGttcctgttttatctgaacaa	10	18	5	8	0	5	1	3	1	2	0	6	1	6	1	1	0	1	3	1	0	4	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:90015477G>A	ENST00000428670.3	-	10	1892	c.1436C>T	c.(1435-1437)aCt>aTt	p.T479I	ATP2B1_ENST00000359142.3_Missense_Mutation_p.T479I|ATP2B1_ENST00000261173.2_Missense_Mutation_p.T479I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.T479I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.T222I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	479					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CATTGTCAAAGTTCCTGTTTT	0.343																																																	0													118	116	117					12																	90015477		2203	4297	6500	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1436C>T	12.37:g.90015477G>A	ENSP00000392043:p.Thr479Ile		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.T479I	ENST00000428670.3	37	c.1436	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943445	0.92593	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.83275	0.996;0.961;0.976	D	0.96403	0.9298	9	.	.	.	-24.494	19.9187	0.97077	0.0:0.0:1.0:0.0	.	479;479;479	P20020-3;P20020-2;P20020-6	.;.;.	I	479;479;479;479;222	ENSP00000261173:T479I;ENSP00000343599:T479I;ENSP00000352054:T479I;ENSP00000392043:T479I;ENSP00000376869:T222I	.	T	-	2	0	ATP2B1	88539608	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.710000	0.92621	0.563000	0.77884	ACT	ATP2B1	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000070961		0.343	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1	-	0	17	0	G	NM_001682		90015477	-1	tier1	-	no_errors	ENST00000261173	ensembl	human	known	74_37	missense	65.38	8	17	SNP	1.000	A	A	90015477	G	A	90015477	3	1	40	1	0	0	0	0	1	0	0	0	1140	1029	36	3	2432	3	ATP2B1	12	90015477	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	24873891	90015477	43836418	187	9844											
IFT81	28981	genome.wustl.edu	37	chr12	110565878	110565878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatatcagagaggagatgCcagagcagacagccaaacga	16	4	13	8	1	1	4	1	0	0	4	1	8	1	5	2	2	4	1	2	2	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:110565878C>T	ENST00000242591.5	+	3	678	c.172C>T	c.(172-174)Cca>Tca	p.P58S	IFT81_ENST00000361948.4_Missense_Mutation_p.P58S|IFT81_ENST00000552912.1_Missense_Mutation_p.P58S	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	58	CH (calponin-homology)-like region.				cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGAGGAGATGCCAGAGCAGAC	0.358																																																	0													122	116	118					12																	110565878		2203	4300	6503	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.172C>T	12.37:g.110565878C>T	ENSP00000242591:p.Pro58Ser		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.P58S	ENST00000242591.5	37	c.172	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437577	0.83885	.	.	ENSG00000122970	ENST00000361948;ENST00000552912;ENST00000242591;ENST00000546374	T	0.31510	1.49	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.64567	1.98	0.80722	D	1	D;D	0.89917	0.958;1.0	P;D	0.87578	0.693;0.998	T	0.48779	-0.9005	10	0.46703	T	0.11	-12.368	20.422	0.99049	0.0:1.0:0.0:0.0	.	58;58	Q8WYA0;Q8WYA0-3	IFT81_HUMAN;.	S	58	ENSP00000355372:P58S	ENSP00000242591:P58S	P	+	1	0	IFT81	109050261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.342000	0.79310	2.832000	0.97577	0.655000	0.94253	CCA	IFT81	-	NULL	ENSG00000122970		0.358	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	-	0	29	0	C	NM_014055		110565878	1	tier1	-	no_errors	ENST00000242591	ensembl	human	known	74_37	missense	6.06	93	6	SNP	1.000	T	T	110565878	C	T	110565878	3	4	40	1	0	0	0	0	1	0	0	0	7592	739	26	3	178	3	IFT81	12	110565878	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	20550401	110565878	23286017	188	9845											
COQ5	84274	genome.wustl.edu	37	chr12	120966890	120966890	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagccccgcatcgcccGcgaccacccacggccgcaat	7	3	10	21	6	0	0	0	0	0	0	1	1	0	0	6	2	1	3	6	2	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:120966890G>T	ENST00000288532.6	-	1	95	c.55C>A	c.(55-57)Cgg>Agg	p.R19R	COQ5_ENST00000445328.2_Silent_p.R19R	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	19					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCATCGCCCGCGACCACCCA	0.647																																																	0													28	32	31					12																	120966890		2202	4300	6502	SO:0001819	synonymous_variant	0			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.55C>A	12.37:g.120966890G>T			B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Silent	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.R19	ENST00000288532.6	37	c.55	CCDS31912.1	12																																																																																			COQ5	-	NULL	ENSG00000110871		0.647	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2		0	35	0	G	NM_032314		120966890	-1			no_errors	ENST00000288532	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.001	T	T	120966890	G	T	120966890	2	4	40	1	0	0	0	0	0	0	0	1	3755	1086	38	2		2	COQ5	12	120966890	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	10401012	120966890	12885005	189	9846											
DNAH10	196385	genome.wustl.edu	37	chr12	124403387	124403387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctgattgccttcttagaGgtcttcaggctgtcactgaa	7	14	9	11	0	4	3	2	2	2	1	5	3	5	3	2	2	1	1	2	2	2	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:124403387G>T	ENST00000409039.3	+	64	11068	c.11043G>T	c.(11041-11043)gaG>gaT	p.E3681D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3681					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCTTCTTAGAGGTCTTCAGGC	0.547																																																	0													63	65	64					12																	124403387		2085	4220	6305	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11043G>T	12.37:g.124403387G>T	ENSP00000386770:p.Glu3681Asp		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.E3681D	ENST00000409039.3	37	c.11043	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	1.165	-0.642551	0.03531	.	.	ENSG00000197653	ENST00000409039	T	0.23348	1.91	5.79	-11.6	0.00059	.	0.432924	0.26023	N	0.026806	T	0.07369	0.0186	N	0.16833	0.445	0.53005	D	0.999969	B	0.06786	0.001	B	0.08055	0.003	T	0.43163	-0.9408	10	0.13108	T	0.6	.	4.3016	0.10927	0.1012:0.249:0.2:0.4498	.	3681	Q8IVF4	DYH10_HUMAN	D	3681	ENSP00000386770:E3681D	ENSP00000386770:E3681D	E	+	3	2	DNAH10	122969340	0.001000	0.12720	0.003000	0.11579	0.061000	0.15899	-1.743000	0.01834	-2.335000	0.00629	-0.314000	0.08810	GAG	DNAH10	-	NULL	ENSG00000197653		0.547	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	45	0	G			124403387	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	71.05	11	27	SNP	0.001	T	T	124403387	G	T	124403387	3	4	40	1	0	0	0	0	1	0	0	0	4612	991	35	3	11297	3	DNAH10	12	124403387	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3436497	124403387	9448508	190	9847											
AACS	65985	genome.wustl.edu	37	chr12	125613984	125613984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacggcaacaagtacaggaaGgcgtatttctccaaattccc	14	8	8	11	2	1	0	0	0	1	0	3	1	2	1	2	3	3	3	2	3	7	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr12:125613984G>C	ENST00000316519.6	+	14	1733	c.1527G>C	c.(1525-1527)aaG>aaC	p.K509N	AACS_ENST00000261686.6_Missense_Mutation_p.K509N|AACS_ENST00000545511.1_Missense_Mutation_p.R89T|AACS_ENST00000316543.10_Missense_Mutation_p.K107N|AACS_ENST00000543665.1_Missense_Mutation_p.R9T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	509					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGTACAGGAAGGCGTATTTCT	0.562																																																	0													155	155	155					12																	125613984		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1527G>C	12.37:g.125613984G>C	ENSP00000324842:p.Lys509Asn		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.K509N	ENST00000316519.6	37	c.1527	CCDS9263.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.270118|1.270118	0.23221|0.23221	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000545511;ENST00000543665	T;T;T;T;T|.	0.46063|.	2.75;2.75;2.75;0.88;2.75|.	4.66|4.66	3.74|3.74	0.42951|0.42951	AMP-dependent synthetase/ligase (1);|.	0.044941|.	0.85682|.	D|.	0.000000|.	T|T	0.44787|0.44787	0.1310|0.1310	N|N	0.20304|0.20304	0.555|0.555	0.58432|0.58432	D|D	0.999996|0.999996	B;P|.	0.36222|.	0.281;0.544|.	B;B|.	0.35278|.	0.103;0.199|.	T|T	0.47394|0.47394	-0.9121|-0.9121	10|6	0.23891|0.72032	T|D	0.37|0.01	.|.	9.3947|9.3947	0.38394|0.38394	0.224:0.0:0.776:0.0|0.224:0.0:0.776:0.0	.|.	509;509|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	N|T	509;509;107;174;64|89;9	ENSP00000324842:K509N;ENSP00000261686:K509N;ENSP00000324929:K107N;ENSP00000441686:K174N;ENSP00000441331:K64N|.	ENSP00000261686:K509N|ENSP00000442007:R9T	K|R	+|+	3|2	2|0	AACS|AACS	124179937|124179937	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.486000|1.486000	0.35530|0.35530	2.393000|2.393000	0.81446|0.81446	0.462000|0.462000	0.41574|0.41574	AAG|AGG	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.562	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0	121	0	G	NM_023928		125613984	1	tier1	-	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	78.57	18	66	SNP	1.000	C	C	125613984	G	C	125613984	3	2	40	1	0	0	0	0	1	0	0	0	9	991	35	5	1581	5	AACS	12	125613984	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1210597	125613984	8237911	191	9848											
TUBA3C	7278	genome.wustl.edu	37	chr13	19748208	19748208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcccaggcctccgcgatgGccgtggtgttgctcagcatg	5	8	15	13	3	1	0	1	0	0	0	2	2	2	0	4	3	3	3	4	3	0	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:19748208G>A	ENST00000400113.3	-	5	1252	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTCCGCGATGGCCGTGGTGTT	0.642																																																	0													92	83	86					13																	19748208		2203	4300	6503	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1148C>T	13.37:g.19748208G>A	ENSP00000382982:p.Ala383Val		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.A383V	ENST00000400113.3	37	c.1148	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	14.15	2.450628	0.43531	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84660	-1.88	1.22	1.22	0.21188	.	0.000000	0.46758	U	0.000267	D	0.86556	0.5961	.	.	.	0.44816	D	0.997821	.	.	.	.	.	.	D	0.85869	0.1415	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	V	383	ENSP00000382982:A383V	ENSP00000354037:A383V	A	-	2	0	TUBA3C	18646208	1.000000	0.71417	0.930000	0.37139	0.924000	0.55760	7.948000	0.87774	0.982000	0.38575	0.194000	0.17425	GCC	TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Tubulin,prints_Delta_tubulin	ENSG00000198033		0.642	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	90	0	G	NM_006001		19748208	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	15.60	92	17	SNP	1.000	A	A	19748208	G	A	19748208	3	1	40	1	0	0	0	0	1	0	0	0	16795	1203	42	3	208	3	TUBA3C	13	19748208	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		19748208	95421670	192	9849											
SACS	26278	genome.wustl.edu	37	chr13	23905608	23905608	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcactcctaaactgtcaAgtttctcaccaatcctgtaa	12	14	3	12	0	3	0	3	0	1	0	6	0	5	0	3	0	1	2	3	0	5	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:23905608A>C	ENST00000382292.3	-	9	12680	c.12407T>G	c.(12406-12408)cTt>cGt	p.L4136R	SACS_ENST00000382298.3_Missense_Mutation_p.L4136R|SACS_ENST00000402364.1_Missense_Mutation_p.L3386R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4136					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAACTGTCAAGTTTCTCACC	0.383																																																	0													111	112	111					13																	23905608		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12407T>G	13.37:g.23905608A>C	ENSP00000371729:p.Leu4136Arg		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.L4136R	ENST00000382292.3	37	c.12407	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	A	16.37	3.105431	0.56291	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92647	-2.93;-3.08;-2.93	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.94427	0.8207	L	0.55990	1.75	0.53005	D	0.999965	D	0.71674	0.998	D	0.66084	0.941	D	0.95033	0.8171	10	0.87932	D	0	.	15.2384	0.73450	1.0:0.0:0.0:0.0	.	4136	Q9NZJ4	SACS_HUMAN	R	4136;3386;4136	ENSP00000371729:L4136R;ENSP00000385844:L3386R;ENSP00000371735:L4136R	ENSP00000371729:L4136R	L	-	2	0	SACS	22803608	1.000000	0.71417	0.995000	0.50966	0.416000	0.31233	9.261000	0.95576	1.989000	0.58080	0.528000	0.53228	CTT	SACS	-	NULL	ENSG00000151835		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0	9	0	A	NM_014363		23905608	-1			no_errors	ENST00000382292	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C	C	23905608	A	C	23905608	3	2	40	1	0	0	0	0	1	0	0	0	13849	72	3	4	1336	4	SACS	13	23905608	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	4157400	23905608	91264270	193	9850											
CSNK1A1L	122011	genome.wustl.edu	37	chr13	37678392	37678392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcacgcttagttatctttCacattattcttgtttttttc	7	23	3	8	1	4	0	2	0	2	0	5	0	4	0	0	0	0	3	0	0	3	10			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:37678392C>T	ENST00000379800.3	-	1	1411	c.1002G>A	c.(1000-1002)gtG>gtA	p.V334V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	334					cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGTTATCTTTCACATTATTCT	0.448																																																	0													133	132	132					13																	37678392		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.1002G>A	13.37:g.37678392C>T			Q5T2N2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V334	ENST00000379800.3	37	c.1002	CCDS9363.1	13																																																																																			CSNK1A1L	-	NULL	ENSG00000180138		0.448	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	-	0	29	0	C	NM_145203		37678392	-1	tier1	-	no_errors	ENST00000379800	ensembl	human	known	74_37	silent	7.14	78	6	SNP	1.000	T	T	37678392	C	T	37678392	2	4	40	1	0	0	0	0	0	0	0	1	3960	813	29	3		3	CSNK1A1L	13	37678392	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	13772784	37678392	77491486	194	9851											
SETDB2	83852	genome.wustl.edu	37	chr13	50062692	50062692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatacttcatctgattctCtaacaaagttcaataaaggg	16	12	6	7	0	4	2	2	1	2	1	5	2	4	2	0	1	2	1	0	1	7	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:50062692C>G	ENST00000317257.8	+	13	2704	c.1879C>G	c.(1879-1881)Cta>Gta	p.L627V	SETDB2_ENST00000354234.4_Missense_Mutation_p.L615V	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	627	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ATCTGATTCTCTAACAAAGTT	0.398																																																	0													70	73	72					13																	50062692		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"Chromatin-modifying enzymes / K-methyltransferases"	20263	protein-coding gene	gene with protein product		607865	"chromosome 13 open reading frame 4"	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1879C>G	13.37:g.50062692C>G	ENSP00000326477:p.Leu627Val		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.L627V	ENST00000317257.8	37	c.1879	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	C	8.783	0.928825	0.18131	.	.	ENSG00000136169	ENST00000354234;ENST00000317257	D;D	0.81659	-1.52;-1.52	5.34	0.401	0.16338	SET domain (3);	0.424572	0.23532	N	0.047176	T	0.64972	0.2647	L	0.52573	1.65	0.09310	N	1	P;P	0.49358	0.837;0.923	B;B	0.39503	0.2;0.301	T	0.56414	-0.7983	10	0.15952	T	0.53	.	2.9571	0.05880	0.1303:0.4546:0.2547:0.1604	.	615;627	Q96T68-2;Q96T68	.;SETB2_HUMAN	V	615;627	ENSP00000346175:L615V;ENSP00000326477:L627V	ENSP00000326477:L627V	L	+	1	2	SETDB2	48960693	0.058000	0.20735	0.005000	0.12908	0.650000	0.38633	0.630000	0.24553	0.624000	0.30286	-0.136000	0.14681	CTA	SETDB2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000136169		0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0	52	0	C	NM_031915		50062692	1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	7.37	88	7	SNP	0.000	G	G	50062692	C	G	50062692	3	3	40	1	0	0	0	0	1	0	0	0	14184	912	32	5	1925	5	SETDB2	13	50062692	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	12384300	50062692	65107186	195	9852											
NEK5	341676	genome.wustl.edu	37	chr13	52657463	52657463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactcttcttcaccaaatagGttttatgacttatttttgag	10	19	5	7	0	3	2	1	2	2	0	3	2	3	2	1	1	1	1	1	1	5	9			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:52657463G>T	ENST00000355568.4	-	17	1644	c.1505C>A	c.(1504-1506)aCc>aAc	p.T502N		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	502					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CACCAAATAGGTTTTATGACT	0.428																																																	0													197	170	179					13																	52657463		2203	4300	6503	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1505C>A	13.37:g.52657463G>T	ENSP00000347767:p.Thr502Asn		Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T502N	ENST00000355568.4	37	c.1505	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612833	0.46631	.	.	ENSG00000197168	ENST00000355568	T	0.73789	-0.78	5.63	5.63	0.86233	.	0.280072	0.25692	N	0.028937	T	0.82006	0.4943	L	0.51422	1.61	0.30211	N	0.797745	D	0.89917	1.0	D	0.83275	0.996	T	0.77542	-0.2549	10	0.30078	T	0.28	.	15.1779	0.72931	0.0:0.0:1.0:0.0	.	502	Q6P3R8	NEK5_HUMAN	N	502	ENSP00000347767:T502N	ENSP00000347767:T502N	T	-	2	0	NEK5	51555464	1.000000	0.71417	0.989000	0.46669	0.166000	0.22503	4.746000	0.62133	2.664000	0.90586	0.455000	0.32223	ACC	NEK5	-	NULL	ENSG00000197168		0.428	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3		0	26	0	G	NM_199289		52657463	-1			no_errors	ENST00000355568	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.997	T	T	52657463	G	T	52657463	3	4	40	1	0	0	0	0	1	0	0	0	10366	1261	44	3	645	3	NEK5	13	52657463	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2594771	52657463	62512415	196	9853											
KLHL1	57626	genome.wustl.edu	37	chr13	70681794	70681794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcggagtcgcagaatgTgcttcacatcgaagtctttt	9	12	10	10	3	2	1	1	0	1	1	5	3	3	2	1	1	2	2	1	1	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr13:70681794T>A	ENST00000377844.4	-	1	797	c.38A>T	c.(37-39)cAc>cTc	p.H13L	KLHL1_ENST00000545028.1_5'UTR|ATXN8OS_ENST00000414504.2_RNA|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	13					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCGCAGAATGTGCTTCACATC	0.617																																																	0													24	28	26					13																	70681794		2203	4299	6502	SO:0001583	missense	0			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"Kelch-like", "BTB/POZ domain containing"	6352	protein-coding gene	gene with protein product	"Kelch-like protein 1", "Mayven-related protein 2"	605332	"kelch (Drosophila)-like 1", "kelch-like 1 (Drosophila)"			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.38A>T	13.37:g.70681794T>A	ENSP00000367075:p.His13Leu		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.H13L	ENST00000377844.4	37	c.38	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	T	19.77	3.888975	0.72524	.	.	ENSG00000150361	ENST00000377844	T	0.72615	-0.67	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000038	T	0.63780	0.2540	L	0.44542	1.39	0.80722	D	1	B;P	0.35328	0.023;0.495	B;B	0.33750	0.01;0.169	T	0.67948	-0.5538	10	0.72032	D	0.01	.	13.784	0.63099	0.0:0.0:0.0:1.0	.	13;13	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	L	13	ENSP00000367075:H13L	ENSP00000367075:H13L	H	-	2	0	KLHL1	69579795	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.216000	0.65246	1.982000	0.57802	0.533000	0.62120	CAC	KLHL1	-	NULL	ENSG00000150361		0.617	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	-	0	59	0	T	NM_020866		70681794	-1	tier1	-	no_errors	ENST00000377844	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	A	A	70681794	T	A	70681794	3	1	40	1	0	0	0	0	1	0	0	0	8392	1696	59	5	2252	5	KLHL1	13	70681794	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	18024331	70681794	44488084	197	9854											
TMEM55B	90809	genome.wustl.edu	37	chr14	20927414	20927414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagccaagcaagaagcagCagatacatctcttacgtggg	14	6	11	10	1	1	2	0	0	1	2	2	2	1	2	1	1	6	4	1	1	6	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:20927414C>T	ENST00000250489.4	-	6	927	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	TMEM55B_ENST00000554028.1_Missense_Mutation_p.C47Y|TMEM55B_ENST00000398020.4_Missense_Mutation_p.C221Y			Q86T03	TM55B_HUMAN	transmembrane protein 55B	214						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.C214F(2)		endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAAGAAGCAGCAGATACATCT	0.498																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											163	154	157					14																	20927414		2203	4300	6503	SO:0001583	missense	0			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"chromosome 14 open reading frame 9"	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.641G>A	14.37:g.20927414C>T	ENSP00000250489:p.Cys214Tyr		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.C221Y	ENST00000250489.4	37	c.662	CCDS9551.1	14	.	.	.	.	.	.	.	.	.	.	C	14.27	2.486037	0.44147	.	.	ENSG00000165782	ENST00000250489;ENST00000398020;ENST00000554028	.	.	.	5.06	5.06	0.68205	.	0.053239	0.85682	D	0.000000	T	0.48150	0.1484	L	0.29908	0.895	0.40171	D	0.97717	B;B	0.29862	0.259;0.218	B;B	0.28991	0.097;0.059	T	0.49072	-0.8977	9	0.41790	T	0.15	-4.8273	17.2077	0.86922	0.0:1.0:0.0:0.0	.	214;221	Q86T03;Q86T03-2	TM55B_HUMAN;.	Y	214;221;47	.	ENSP00000250489:C214Y	C	-	2	0	TMEM55B	19997254	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.708000	0.37899	2.351000	0.79841	0.655000	0.94253	TGC	TMEM55B	-	pfam_Transmembrane_protein_55A/B	ENSG00000165782		0.498	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3		0	37	0	C	NM_144568		20927414	-1			no_errors	ENST00000398020	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	20927414	C	T	20927414	3	4	40	1	0	0	0	0	1	0	0	0	16229	710	25	3	200	3	TMEM55B	14	20927414	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09		20927414	86422126	198	9855											
RPGRIP1	57096	genome.wustl.edu	37	chr14	21790080	21790080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaagaaaagctggagaGgttgactcgactactagacc	15	7	10	9	1	1	4	1	1	0	3	2	6	1	4	1	2	2	2	1	2	5	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:21790080G>T	ENST00000400017.2	+	13	1679	c.1679G>T	c.(1678-1680)aGg>aTg	p.R560M	RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.R560M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.R533M|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R533M|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.R202M|RPGRIP1_ENST00000553500.1_3'UTR	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	560					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGCTGGAGAGGTTGACTCGA	0.398																																																	0													94	91	92					14																	21790080		1899	4113	6012	SO:0001583	missense	0			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1679G>T	14.37:g.21790080G>T	ENSP00000382895:p.Arg560Met		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_dom	p.R560M	ENST00000400017.2	37	c.1679	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472385	0.26423	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;T	0.80033	-0.15;-0.88;-0.91;-0.91;-0.48;-1.2;-1.33	4.58	3.68	0.42216	.	0.247255	0.39909	N	0.001223	D	0.86272	0.5893	M	0.72118	2.19	0.80722	D	1	B;D;P;P	0.89917	0.447;1.0;0.649;0.754	B;D;B;B	0.70935	0.097;0.971;0.21;0.169	D	0.86199	0.1617	10	0.66056	D	0.02	-18.1003	8.7496	0.34607	0.1593:0.0:0.8407:0.0	.	35;202;176;560	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	M	533;533;560;560;202;35;33	ENSP00000450445:R533M;ENSP00000451219:R533M;ENSP00000382895:R560M;ENSP00000206660:R560M;ENSP00000372391:R202M;ENSP00000451262:R35M;ENSP00000450426:R33M	ENSP00000206660:R560M	R	+	2	0	RPGRIP1	20859920	0.208000	0.23494	0.943000	0.38184	0.334000	0.28698	1.164000	0.31810	2.538000	0.85594	0.305000	0.20034	AGG	RPGRIP1	-	NULL	ENSG00000092200		0.398	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1		0	54	0	G	NM_020366		21790080	1			no_errors	ENST00000206660	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.898	T	T	21790080	G	T	21790080	3	4	40	1	0	0	0	0	1	0	0	0	13594	1000	35	3	1729	3	RPGRIP1	14	21790080	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	862666	21790080	85559460	199	9856											
PSMB5	5693	genome.wustl.edu	37	chr14	23503912	23503912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaaggccagggtggttGttccatgaagcatttcgatt	8	13	12	8	1	0	2	0	2	0	0	2	3	1	2	3	3	1	3	3	3	2	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:23503912G>T	ENST00000361611.6	-	1	442	c.179C>A	c.(178-180)aCa>aAa	p.T60K	PSMB5_ENST00000493471.2_Missense_Mutation_p.T60K|PSMB5_ENST00000425762.2_Intron|AL132780.1_ENST00000385031.1_RNA|PSMB5_ENST00000460922.2_Missense_Mutation_p.T60K	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	60					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to oxidative stress (GO:0006979)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)|Carfilzomib(DB08889)	CAGGGTGGTTGTTCCATGAAG	0.627																																																	0													44	40	41					14																	23503912		2203	4300	6503	SO:0001583	missense	0			D29011	CCDS9584.1, CCDS45083.1, CCDS45084.1	14q11.2	2008-08-29			ENSG00000100804	ENSG00000100804		"Proteasome (prosome, macropain) subunits"	9542	protein-coding gene	gene with protein product		600306				8066462, 8811196	Standard	NM_001130725		Approved	X, MB1	uc001wii.3	P28074	OTTHUMG00000028713	ENST00000361611.6:c.179C>A	14.37:g.23503912G>T	ENSP00000355325:p.Thr60Lys		B2R4N9|B4DUM9|D3DS43|E9PAV2|Q16242|Q6PEW2|Q7Z3B5|Q86T01|Q9TNN9	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.T60K	ENST00000361611.6	37	c.179	CCDS9584.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.974418|4.974418	0.92919|0.92919	.|.	.|.	ENSG00000100804|ENSG00000100804	ENST00000555895|ENST00000361611;ENST00000493471;ENST00000460922	.|T;T;T	.|0.72942	.|-0.7;-0.7;-0.7	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.048149	.|0.85682	.|D	.|0.000000	D|D	0.92113|0.92113	0.7500|0.7500	H|H	0.99851|0.99851	4.845|4.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.87578	.|0.977;0.998	D|D	0.95850|0.95850	0.8874|0.8874	5|10	.|0.87932	.|D	.|0	-27.2198|-27.2198	17.7057|17.7057	0.88309|0.88309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|60;60	.|P28074-2;P28074	.|.;PSB5_HUMAN	K|K	9|60	.|ENSP00000355325:T60K;ENSP00000452424:T60K;ENSP00000451286:T60K	.|ENSP00000334973:T60K	Q|T	-|-	1|2	0|0	PSMB5|PSMB5	22573752|22573752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.671000|7.671000	0.83941|0.83941	2.464000|2.464000	0.83262|0.83262	0.555000|0.555000	0.69702|0.69702	CAA|ACA	PSMB5	-	pfam_Proteasome_sua/b	ENSG00000100804		0.627	PSMB5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB5	HGNC	protein_coding	OTTHUMT00000071695.4		0	62	0	G	NM_002797		23503912	-1			no_errors	ENST00000361611	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	23503912	G	T	23503912	3	4	40	1	0	0	0	0	1	0	0	0	12722	1377	48	3	713	3	PSMB5	14	23503912	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1713832	23503912	83845628	200	9857											
ACIN1	22985	genome.wustl.edu	37	chr14	23548783	23548783	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcttgatgctgaacgAgaacgtgaacgtgaccttga	10	11	12	8	3	0	6	0	5	0	1	0	7	0	6	1	0	5	3	1	0	3	3	rs78164858|rs148403158|rs5807202|rs3077646	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:23548783A>T	ENST00000262710.1	-	6	2262	c.1935T>A	c.(1933-1935)tcT>tcA	p.S645S	ACIN1_ENST00000605057.1_Silent_p.S587S|ACIN1_ENST00000457657.1_Silent_p.S605S|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.S645S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	645	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ATGCTGAACGAGAACGTGAAC	0.488																																																	0													229	214	219					14																	23548783		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1935T>A	14.37:g.23548783A>T			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.S645	ENST00000262710.1	37	c.1935	CCDS9587.1	14																																																																																			ACIN1	-	NULL	ENSG00000100813		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3		0	30	0	A	NM_014977		23548783	-1			no_errors	ENST00000262710	ensembl	human	known	74_37	silent	12.70	55	8	SNP	0.508	T	T	23548783	A	T	23548783	2	4	40	1	0	0	0	0	0	0	0	1	142	291	11	5		5	ACIN1	14	23548783	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	44871	23548783	83800757	201	9858											
ACIN1	22985	genome.wustl.edu	37	chr14	23549875	23549875	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcctcttcttcatcatcTtcttcctcctcctcctcctc	2	18	0	21	0	6	0	2	0	4	0	13	0	12	0	7	0	0	0	7	0	0	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:23549875T>A	ENST00000262710.1	-	6	1170	c.843A>T	c.(841-843)gaA>gaT	p.E281D	ACIN1_ENST00000605057.1_Missense_Mutation_p.E223D|ACIN1_ENST00000457657.1_Missense_Mutation_p.E241D|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.E281D	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	281	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		cttcatcatcttcttcctcct	0.448																																																	0													152	140	144					14																	23549875		2203	4300	6503	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 152"	604562	"apoptotic chromatin condensation inducer in the nucleus"	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.843A>T	14.37:g.23549875T>A	ENSP00000262710:p.Glu281Asp		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.E281D	ENST00000262710.1	37	c.843	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	T	1.446	-0.566196	0.03910	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.19532	2.14;2.14;2.14	5.57	-4.9	0.03094	.	.	.	.	.	T	0.05547	0.0146	N	0.03608	-0.345	0.09310	N	0.999991	B;B	0.14012	0.009;0.003	B;B	0.13407	0.009;0.004	T	0.39313	-0.9620	9	0.11485	T	0.65	-2.0759	1.0346	0.01545	0.1683:0.2523:0.3136:0.2658	.	281;281	G3V3M7;Q9UKV3	.;ACINU_HUMAN	D	281;241;281	ENSP00000262710:E281D;ENSP00000405677:E241D;ENSP00000451328:E281D	ENSP00000262710:E281D	E	-	3	2	ACIN1	22619715	0.061000	0.20836	0.065000	0.19835	0.152000	0.21847	-0.672000	0.05244	-0.454000	0.07066	0.528000	0.53228	GAA	ACIN1	-	NULL	ENSG00000100813		0.448	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3		0	19	0	T	NM_014977		23549875	-1			no_errors	ENST00000262710	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.224	A	A	23549875	T	A	23549875	3	1	40	1	0	0	0	0	1	0	0	0	142	1606	56	5	3385	5	ACIN1	14	23549875	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	1092	23549875	83799665	202	9859											
AKAP6	9472	genome.wustl.edu	37	chr14	33293331	33293331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcaccggcccatccagctGagaaaaggggacttttattc	10	10	9	12	1	1	1	1	1	1	1	4	3	2	2	3	3	1	1	3	3	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:33293331G>A	ENST00000280979.4	+	13	6482	c.6312G>A	c.(6310-6312)ctG>ctA	p.L2104L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2104					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCATCCAGCTGAGAAAAGGGG	0.433																																					Melanoma(49;821 1200 7288 13647 42351)												0													83	84	83					14																	33293331		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6312G>A	14.37:g.33293331G>A			A7E242|A7E2D4|O15028	Silent	SNP	smart_Spectrin/alpha-actinin	p.L2104	ENST00000280979.4	37	c.6312	CCDS9644.1	14																																																																																			AKAP6	-	NULL	ENSG00000151320		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0	25	0	G	NM_004274		33293331	1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.988	A	A	33293331	G	A	33293331	2	1	40	1	0	0	0	0	0	0	0	1	455	1277	45	3		3	AKAP6	14	33293331	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	9743456	33293331	74056209	203	9860											
NIN	51199	genome.wustl.edu	37	chr14	51233526	51233526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaacacattttccaaatttCtctgaagtttgtttgtcaga	11	17	5	8	0	2	2	1	1	1	1	4	2	3	2	1	0	1	2	1	0	3	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:51233526C>T	ENST00000382041.3	-	13	1707	c.1517G>A	c.(1516-1518)aGa>aAa	p.R506K	NIN_ENST00000382043.4_Missense_Mutation_p.R506K|NIN_ENST00000530997.2_Missense_Mutation_p.R506K|NIN_ENST00000453196.1_Missense_Mutation_p.R506K|NIN_ENST00000389868.3_Missense_Mutation_p.R506K|NIN_ENST00000324330.9_Missense_Mutation_p.R506K|NIN_ENST00000245441.5_Missense_Mutation_p.R506K	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	506					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCCAAATTTCTCTGAAGTTT	0.373			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													170	161	164					14																	51233526		2203	4299	6502	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1517G>A	14.37:g.51233526C>T	ENSP00000371472:p.Arg506Lys		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.R506K	ENST00000382041.3	37	c.1517	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433460	0.25813	.	.	ENSG00000100503	ENST00000245441;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.20598	3.59;2.06;2.06;2.06;2.06;2.06	5.84	2.46	0.29980	.	0.303403	0.33364	N	0.004982	T	0.11580	0.0282	N	0.19112	0.55	0.31030	N	0.717533	B;B;B;B;P	0.41131	0.063;0.313;0.023;0.012;0.739	B;B;B;B;B	0.39119	0.082;0.221;0.04;0.006;0.291	T	0.11665	-1.0578	10	0.09843	T	0.71	-3.0914	11.3167	0.49396	0.0:0.7536:0.0:0.2464	.	512;506;506;506;506	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	K	506;506;506;512;506;506;506	ENSP00000245441:R506K;ENSP00000374518:R506K;ENSP00000371474:R506K;ENSP00000371472:R506K;ENSP00000324210:R506K;ENSP00000412391:R506K	ENSP00000245441:R506K	R	-	2	0	NIN	50303276	0.019000	0.18553	0.997000	0.53966	0.824000	0.46624	0.109000	0.15417	0.742000	0.32697	-0.345000	0.07892	AGA	NIN	-	superfamily_tRNA-bd_arm	ENSG00000100503		0.373	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	30	0	C	NM_182946		51233526	-1	tier1	-	no_errors	ENST00000245441	ensembl	human	known	74_37	missense	73.68	10	28	SNP	0.833	T	T	51233526	C	T	51233526	3	4	40	1	0	0	0	0	1	0	0	0	10456	913	32	3	5108	3	NIN	14	51233526	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	17940195	51233526	56116014	204	9861											
ZBTB1	22890	genome.wustl.edu	37	chr14	64988318	64988318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtattgcaattgatgaCatttactttcaagcacacaa	13	14	6	8	0	1	2	1	2	0	0	1	2	1	2	0	0	4	4	0	0	5	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:64988318C>A	ENST00000554015.1	+	4	527	c.96C>A	c.(94-96)gaC>gaA	p.D32E	ZBTB1_ENST00000394712.2_Missense_Mutation_p.D32E|ZBTB1_ENST00000358738.3_Missense_Mutation_p.D32E|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	32	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAATTGATGACATTTACTTTC	0.428																																																	0													113	105	108					14																	64988318		2203	4300	6503	SO:0001583	missense	0			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.96C>A	14.37:g.64988318C>A	ENSP00000451000:p.Asp32Glu		A8K6S8|Q86SW8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D32E	ENST00000554015.1	37	c.96	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.227727	0.95173	.	.	ENSG00000126804	ENST00000553583;ENST00000556965;ENST00000554015;ENST00000358738;ENST00000394712;ENST00000555321	T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;1.92	6.16	6.16	0.99307	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.154659	0.45606	D	0.000359	T	0.77532	0.4144	L	0.41124	1.26	0.53005	D	0.999967	P;D	0.76494	0.761;0.999	P;D	0.85130	0.448;0.997	T	0.78160	-0.2312	10	0.87932	D	0	-24.6382	11.6865	0.51490	0.0:0.8957:0.0:0.1043	.	32;32	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	E	32	ENSP00000451584:D32E;ENSP00000450689:D32E;ENSP00000451000:D32E;ENSP00000351587:D32E;ENSP00000378201:D32E;ENSP00000451332:D32E	ENSP00000351587:D32E	D	+	3	2	ZBTB1	64058071	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.856000	0.62932	2.937000	0.99478	0.650000	0.86243	GAC	ZBTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000126804		0.428	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	-	0	25	0	C			64988318	1	tier1	-	no_errors	ENST00000394712	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A	A	64988318	C	A	64988318	3	1	40	1	0	0	0	0	1	0	0	0	17570	477	17	3	98	3	ZBTB1	14	64988318	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	13754792	64988318	42361222	205	9862											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72117066	72117066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagctgaactaccagcaGaaagtaggcatcatgtactg	14	8	9	10	0	2	2	2	1	0	1	2	2	2	2	1	1	5	5	1	1	5	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:72117066G>T	ENST00000555818.1	+	5	2181	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Q86H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Q611H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Q611H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	611					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTACCAGCAGAAAGTAGGCA	0.433																																																	0													207	201	203					14																	72117066		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1833G>T	14.37:g.72117066G>T	ENSP00000450832:p.Gln611His		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.Q611H	ENST00000555818.1	37	c.1833	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	1.965	-0.437936	0.04636	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08	5.46	4.57	0.56435	Rap/ran-GAP (1);	0.256151	0.38897	N	0.001522	T	0.59569	0.2203	N	0.00019	-2.79	0.33146	D	0.545004	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.67650	-0.5616	10	0.02654	T	1	-20.5803	9.3525	0.38147	0.0771:0.0:0.7461:0.1767	.	86;611;86;611;611	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	H	611;611;611;86;127	ENSP00000370630:Q611H;ENSP00000450832:Q611H;ENSP00000351352:Q611H;ENSP00000440682:Q86H;ENSP00000452450:Q127H	ENSP00000351352:Q611H	Q	+	3	2	SIPA1L1	71186819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.550000	0.45811	1.441000	0.47550	0.591000	0.81541	CAG	SIPA1L1	-	pfscan_Rap_GAP_dom	ENSG00000197555		0.433	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0	30	0	G	NM_015556		72117066	1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	72117066	G	T	72117066	3	4	40	1	0	0	0	0	1	0	0	0	14374	933	33	3	1847	3	SIPA1L1	14	72117066	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	7128748	72117066	35232474	206	9863											
EML1	2009	genome.wustl.edu	37	chr14	100380522	100380522	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcaatgcagattccaGaacagtttggtccaatacgg	12	12	8	9	1	1	2	1	0	0	2	3	2	3	2	2	2	3	2	2	2	4	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:100380522G>T	ENST00000262233.6	+	14	1640	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	EML1_ENST00000334192.4_Nonsense_Mutation_p.E520*|EML1_ENST00000327921.9_Nonsense_Mutation_p.E489*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	501	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAGATTCCAGAACAGTTTGG	0.423																																																	0													110	99	102					14																	100380522		2203	4300	6503	SO:0001587	stop_gained	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"WD repeat domain containing"	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1501G>T	14.37:g.100380522G>T	ENSP00000262233:p.Glu501*		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E520*	ENST00000262233.6	37	c.1558	CCDS32155.1	14	.	.	.	.	.	.	.	.	.	.	G	47	13.229655	0.99728	.	.	ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	.	.	.	5.04	5.04	0.67666	.	0.047681	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.6283	18.3908	0.90483	0.0:0.0:1.0:0.0	.	.	.	.	X	489;501;520;520	.	ENSP00000262233:E501X	E	+	1	0	EML1	99450275	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.851000	0.86920	2.343000	0.79666	0.585000	0.79938	GAA	EML1	-	superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000066629		0.423	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	-	0	72	0	G	NM_001008707		100380522	1	tier1	-	no_errors	ENST00000334192	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	100380522	G	T	100380522	4	4	40	1	0	0	0	0	0	1	0	0	5112	943	33	3	1616	3	EML1	14	100380522	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	28263456	100380522	6969018	207	9864											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102502930	102502930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctggatgacgccttcaGaaagaacttagagagtgcac	12	9	10	10	1	1	4	1	1	0	3	2	6	2	5	2	1	2	1	2	1	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr14:102502930G>T	ENST00000360184.4	+	57	11023	c.10859G>T	c.(10858-10860)aGa>aTa	p.R3620I	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3620	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GACGCCTTCAGAAAGAACTTA	0.468																																																	0													150	131	137					14																	102502930		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10859G>T	14.37:g.102502930G>T	ENSP00000348965:p.Arg3620Ile		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R3620I	ENST00000360184.4	37	c.10859	CCDS9966.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.26|16.26	3.071963|3.071963	0.55646|0.55646	.|.	.|.	ENSG00000197102|ENSG00000197102	ENST00000553423|ENST00000360184	.|T	.|0.19938	.|2.11	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.35219|0.35219	0.0924|0.0924	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.71184	.|0.972	T|T	0.01945|0.01945	-1.1242|-1.1242	5|10	.|0.32370	.|T	.|0.25	.|.	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3620	.|Q14204	.|DYHC1_HUMAN	H|I	95|3620	.|ENSP00000348965:R3620I	.|ENSP00000348965:R3620I	Q|R	+|+	3|2	2|0	DYNC1H1|DYNC1H1	101572683|101572683	1.000000|1.000000	0.71417|0.71417	0.555000|0.555000	0.28281|0.28281	0.973000|0.973000	0.67179|0.67179	9.869000|9.869000	0.99810|0.99810	2.769000|2.769000	0.95229|0.95229	0.655000|0.655000	0.94253|0.94253	CAG|AGA	DYNC1H1	-	NULL	ENSG00000197102		0.468	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1		0	49	0	G	NM_001376		102502930	1			no_errors	ENST00000360184	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.996	T	T	102502930	G	T	102502930	3	4	40	1	0	0	0	0	1	0	0	0	4855	942	33	3	11085	3	DYNC1H1	14	102502930	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2122408	102502930	4846610	208	9865											
MKRN3	7681	genome.wustl.edu	37	chr15	23812263	23812263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgcatactggcatcaacTtgtggagcctgtgcgaatgg	9	9	13	10	2	1	0	1	0	0	0	1	2	1	1	1	3	5	2	1	3	3	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:23812263T>C	ENST00000314520.3	+	1	1810	c.1334T>C	c.(1333-1335)cTt>cCt	p.L445P	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	445					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGCATCAACTTGTGGAGCCT	0.517																																																	0													116	103	107					15																	23812263		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1334T>C	15.37:g.23812263T>C	ENSP00000313881:p.Leu445Pro			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.L445P	ENST00000314520.3	37	c.1334	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	T	2.178	-0.388262	0.04932	.	.	ENSG00000179455	ENST00000314520	T	0.33438	1.41	3.98	0.288	0.15719	.	0.319446	0.24568	N	0.037404	T	0.21103	0.0508	L	0.52573	1.65	0.21933	N	0.999466	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	10	0.45353	T	0.12	.	2.6026	0.04870	0.2216:0.2181:0.0:0.5603	.	445	Q13064	MKRN3_HUMAN	P	445	ENSP00000313881:L445P	ENSP00000313881:L445P	L	+	2	0	MKRN3	21363356	0.651000	0.27340	0.000000	0.03702	0.038000	0.13279	1.153000	0.31676	0.021000	0.15133	-0.376000	0.06991	CTT	MKRN3	-	NULL	ENSG00000179455		0.517	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0	47	0	T	NM_005664		23812263	1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	53.85	30	35	SNP	0.002	C	C	23812263	T	C	23812263	3	2	40	1	0	0	0	0	1	0	0	0	9646	1609	56	4	1336	4	MKRN3	15	23812263	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09		23812263	78719129	209	9866											
ATP10A	57194	genome.wustl.edu	37	chr15	25953235	25953235	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaccagcaggcatactcTtctttactcagaacctatgg	11	11	7	12	0	3	1	1	0	2	1	3	1	3	1	2	2	6	3	2	2	5	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:25953235T>A	ENST00000356865.6	-	12	2574	c.2463A>T	c.(2461-2463)gaA>gaT	p.E821D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	821					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCATACTCTTCTTTACTCA	0.587																																																	0													78	74	75					15																	25953235		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2463A>T	15.37:g.25953235T>A	ENSP00000349325:p.Glu821Asp		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E821D	ENST00000356865.6	37	c.2463	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	t	14.70	2.614929	0.46631	.	.	ENSG00000206190	ENST00000356865	T	0.68181	-0.31	4.68	-6.45	0.01914	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.047096	0.85682	D	0.000000	T	0.56247	0.1972	L	0.46819	1.47	0.34519	D	0.707916	B	0.27910	0.193	B	0.32533	0.147	T	0.38001	-0.9681	10	0.25106	T	0.35	-25.3807	18.1477	0.89663	0.0:0.6407:0.0:0.3592	.	821	O60312	AT10A_HUMAN	D	821	ENSP00000349325:E821D	ENSP00000349325:E821D	E	-	3	2	ATP10A	23504328	0.004000	0.15560	0.280000	0.24747	0.748000	0.42578	-1.450000	0.02390	-1.406000	0.02045	-0.981000	0.02577	GAA	ATP10A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	23	0	T	NM_024490		25953235	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	58.33	10	14	SNP	0.300	A	A	25953235	T	A	25953235	3	1	40	1	0	0	0	0	1	0	0	0	1117	1606	56	5	2076	5	ATP10A	15	25953235	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	2140972	25953235	76578157	210	9867											
RYR3	6263	genome.wustl.edu	37	chr15	33831636	33831636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggcgatgacctcatcctCgtcagcgtgtcctctgaaag	8	11	10	12	3	3	2	2	2	1	0	6	3	5	2	3	1	1	0	3	1	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:33831636C>T	ENST00000389232.4	+	6	589	c.519C>T	c.(517-519)ctC>ctT	p.L173L	RYR3_ENST00000415757.3_Silent_p.L173L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	173	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTCATCCTCGTCAGCGTGT	0.438																																																	0													87	85	86					15																	33831636		1969	4142	6111	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.519C>T	15.37:g.33831636C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L173	ENST00000389232.4	37	c.519	CCDS45210.1	15																																																																																			RYR3	-	pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif	ENSG00000198838		0.438	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	44	0	C			33831636	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	silent	34.25	48	25	SNP	0.219	T	T	33831636	C	T	33831636	2	4	40	1	0	0	0	0	0	0	0	1	13815	871	31	1		1	RYR3	15	33831636	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	7878401	33831636	68699756	211	9868											
RYR3	6263	genome.wustl.edu	37	chr15	33922180	33922180	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacaacacccttgccttgtgGagttttcaaagctcccagaa	11	10	8	12	0	1	1	1	0	0	1	2	3	2	2	3	1	3	2	3	1	3	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:33922180G>T	ENST00000389232.4	+	22	2789	c.2719G>T	c.(2719-2721)Gag>Tag	p.E907*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.E907*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	907	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCCTTGTGGAGTTTTCAAA	0.378																																																	0													96	86	89					15																	33922180		1851	4100	5951	SO:0001587	stop_gained	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2719G>T	15.37:g.33922180G>T	ENSP00000373884:p.Glu907*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E907*	ENST00000389232.4	37	c.2719	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.747860	0.99253	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.35	5.35	0.76521	.	0.059322	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.2593	0.93961	0.0:0.0:1.0:0.0	.	.	.	.	X	907	.	ENSP00000354735:E907X	E	+	1	0	RYR3	31709472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.146000	0.94640	2.770000	0.95276	0.650000	0.86243	GAG	RYR3	-	pfam_Ryanodine_rcpt	ENSG00000198838		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	37	0	G			33922180	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	1.000	T	T	33922180	G	T	33922180	4	4	40	1	0	0	0	0	0	1	0	0	13815	1175	41	3	2805	3	RYR3	15	33922180	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	90544	33922180	68609212	212	9869											
PGBD4	161779	genome.wustl.edu	37	chr15	34396159	34396159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcaagaaggataatcCtgagcacacgatgagccata	14	8	9	10	1	1	3	1	2	0	1	2	5	2	4	3	1	2	2	3	1	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:34396159C>A	ENST00000397766.2	+	1	1886	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	EMC7_ENST00000532113.1_5'Flank|EMC7_ENST00000256545.4_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	476								p.P476H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		AAGGATAATCCTGAGCACACG	0.433																																																	1	Substitution - Missense(1)	lung(1)											74	67	69					15																	34396159		2201	4298	6499	SO:0001583	missense	0			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.1427C>A	15.37:g.34396159C>A	ENSP00000380872:p.Pro476His		A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	NULL	p.P476H	ENST00000397766.2	37	c.1427	CCDS10033.1	15	.	.	.	.	.	.	.	.	.	.	c	5.925	0.354664	0.11239	.	.	ENSG00000182405	ENST00000397766	T	0.20881	2.04	1.02	1.02	0.19986	.	68.102800	0.01971	U	0.044097	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.58660	0.843	T	0.38090	-0.9677	10	0.46703	T	0.11	.	7.8782	0.29605	0.0:1.0:0.0:0.0	.	476	Q96DM1	PGBD4_HUMAN	H	476	ENSP00000380872:P476H	ENSP00000380872:P476H	P	+	2	0	PGBD4	32183451	0.452000	0.25713	0.046000	0.18839	0.182000	0.23217	0.065000	0.14466	0.859000	0.35456	0.306000	0.20318	CCT	PGBD4	-	NULL	ENSG00000182405		0.433	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PGBD4	HGNC	protein_coding	OTTHUMT00000251522.1		0	12	0	C			34396159	1			no_errors	ENST00000397766	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.083	A	A	34396159	C	A	34396159	3	1	40	1	0	0	0	0	1	0	0	0	11822	681	24	3	1429	3	PGBD4	15	34396159	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	473979	34396159	68135233	213	9870											
MGA	23269	genome.wustl.edu	37	chr15	41961679	41961679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcatatcatcttgcactCtatgcatcgttacctgccga	9	12	8	12	2	3	0	1	0	2	0	4	1	3	0	2	1	4	4	2	1	3	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:41961679C>T	ENST00000570161.1	+	1	587	c.587C>T	c.(586-588)tCt>tTt	p.S196F	MGA_ENST00000566586.1_Missense_Mutation_p.S196F|MGA_ENST00000545763.1_Missense_Mutation_p.S196F|MGA_ENST00000389936.4_Missense_Mutation_p.S196F|MGA_ENST00000219905.7_Missense_Mutation_p.S196F|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S196C(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCTTGCACTCTATGCATCGT	0.448																																																	1	Substitution - Missense(1)	lung(1)											168	166	166					15																	41961679		1978	4161	6139	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.587C>T	15.37:g.41961679C>T	ENSP00000457035:p.Ser196Phe		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.S196F	ENST00000570161.1	37	c.587	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407016	0.83230	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.91894	-2.93;-2.93;-2.93	5.93	5.93	0.95920	.	0.095329	0.85682	D	0.000000	D	0.97284	0.9112	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97481	1.0047	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	196;196	F5H7K2;E7ENI0	.;.	F	196	ENSP00000219905:S196F;ENSP00000374586:S196F;ENSP00000442467:S196F	ENSP00000219905:S196F	S	+	2	0	MGA	39748971	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	TCT	MGA	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000174197		0.448	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0	16	0	C	NM_001164273.1		41961679	1			no_errors	ENST00000219905	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T	T	41961679	C	T	41961679	3	4	40	1	0	0	0	0	1	0	0	0	9578	913	32	3	589	3	MGA	15	41961679	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	7565520	41961679	60569713	214	9871											
UBR1	197131	genome.wustl.edu	37	chr15	43294822	43294822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagatttgcaaagagggCaaagatattctccactttcc	14	10	8	9	0	1	3	0	0	1	3	3	4	2	3	2	1	1	2	2	1	3	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:43294822C>A	ENST00000290650.4	-	32	3668	c.3590G>T	c.(3589-3591)tGc>tTc	p.C1197F	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'Flank	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1197					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GCAAAGAGGGCAAAGATATTC	0.363																																																	0													77	73	74					15																	43294822		2203	4299	6502	SO:0001583	missense	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3590G>T	15.37:g.43294822C>A	ENSP00000290650:p.Cys1197Phe		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.C1197F	ENST00000290650.4	37	c.3590	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501595	0.85176	.	.	ENSG00000159459	ENST00000290650	D	0.99809	-6.86	5.29	5.29	0.74685	Zinc finger, RING/FYVE/PHD-type (1);	0.092768	0.85682	D	0.000000	D	0.99809	0.9917	M	0.89030	3	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97222	0.9878	10	0.87932	D	0	-30.5135	19.1157	0.93338	0.0:1.0:0.0:0.0	.	1197	Q8IWV7	UBR1_HUMAN	F	1197	ENSP00000290650:C1197F	ENSP00000290650:C1197F	C	-	2	0	UBR1	41082114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.950000	0.75977	2.753000	0.94483	0.460000	0.39030	TGC	UBR1	-	NULL	ENSG00000159459		0.363	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	-	0	37	0	C	NM_174916		43294822	-1	tier1	-	no_errors	ENST00000290650	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	43294822	C	A	43294822	3	1	40	1	0	0	0	0	1	0	0	0	16950	710	25	3	1723	3	UBR1	15	43294822	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1333143	43294822	59236570	215	9872											
SPATA5L1	79029	genome.wustl.edu	37	chr15	45713328	45713328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcacttaagactgtaaaaCcgtcgttaagttgcaaggac	15	10	8	8	2	1	1	1	0	0	1	2	2	1	2	1	1	2	4	1	1	6	4	rs143654467		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:45713328C>A	ENST00000305560.6	+	8	2281	c.2182C>A	c.(2182-2184)Ccg>Acg	p.P728T	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	728						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.P728S(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GACTGTAAAACCGTCGTTAAG	0.358																																																	1	Substitution - Missense(1)	skin(1)											73	75	74					15																	45713328		2198	4298	6496	SO:0001583	missense	0			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2182C>A	15.37:g.45713328C>A	ENSP00000305494:p.Pro728Thr		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P728T	ENST00000305560.6	37	c.2182	CCDS10123.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.01|18.01	3.527163|3.527163	0.64860|0.64860	.|.	.|.	ENSG00000171763|ENSG00000171763	ENST00000531624|ENST00000305560	.|D	.|0.95205	.|-3.64	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.059984	.|0.64402	.|D	.|0.000002	D|D	0.96250|0.96250	0.8777|0.8777	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.66351	.|0.943	D|D	0.96502|0.96502	0.9372|0.9372	5|10	.|0.72032	.|D	.|0.01	-29.4054|-29.4054	18.1745|18.1745	0.89757|0.89757	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|728	.|Q9BVQ7	.|SPA5L_HUMAN	K|T	232|728	.|ENSP00000305494:P728T	.|ENSP00000305494:P728T	N|P	+|+	3|1	2|0	SPATA5L1|SPATA5L1	43500620|43500620	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.374000|0.374000	0.29953|0.29953	5.907000|5.907000	0.69908|0.69908	2.632000|2.632000	0.89209|0.89209	0.561000|0.561000	0.74099|0.74099	AAC|CCG	SPATA5L1	-	superfamily_P-loop_NTPase	ENSG00000171763		0.358	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	-	0	37	0	C	NM_024063		45713328	1	tier1	-	no_errors	ENST00000305560	ensembl	human	known	74_37	missense	73.77	16	45	SNP	1.000	A	A	45713328	C	A	45713328	3	1	40	1	0	0	0	0	1	0	0	0	15059	507	18	3	2212	3	SPATA5L1	15	45713328	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	2418506	45713328	56818064	216	9873											
USP8	9101	genome.wustl.edu	37	chr15	50785016	50785016	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttcgtaacttaggaaatActtgttatatgaactcaata	15	14	6	6	1	1	1	1	1	0	0	2	3	1	2	0	1	3	2	0	1	9	8	rs148783236	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:50785016A>G	ENST00000396444.3	+	15	2691	c.2353A>G	c.(2353-2355)Act>Gct	p.T785A	USP8_ENST00000425032.3_Missense_Mutation_p.T679A|USP8_ENST00000307179.4_Missense_Mutation_p.T785A|USP8_ENST00000433963.1_Missense_Mutation_p.T785A|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	785	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.T785A(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTAGGAAATACTTGTTATAT	0.398																																																	2	Substitution - Missense(2)	prostate(2)											118	105	110					15																	50785016		2196	4294	6490	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2353A>G	15.37:g.50785016A>G	ENSP00000379721:p.Thr785Ala		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.T785A	ENST00000396444.3	37	c.2353	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653902	0.88056	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.79108	0.964;0.992	T	0.83303	-0.0027	10	0.87932	D	0	-18.2981	15.3993	0.74827	1.0:0.0:0.0:0.0	.	679;785	B4DKA8;P40818	.;UBP8_HUMAN	A	785;785;785;679;10;10	ENSP00000379721:T785A;ENSP00000405537:T785A;ENSP00000302239:T785A;ENSP00000412682:T679A	ENSP00000302239:T785A	T	+	1	0	USP8	48572308	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.648000	0.91062	2.096000	0.63516	0.528000	0.53228	ACT	USP8	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000138592		0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1		0	25	0	A	NM_005154		50785016	1			no_errors	ENST00000307179	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	G	G	50785016	A	G	50785016	3	3	40	1	0	0	0	0	1	0	0	0	17138	391	14	4	2407	4	USP8	15	50785016	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	5071688	50785016	51746376	217	9874											
AP4E1	23431	genome.wustl.edu	37	chr15	51285652	51285652	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcaaaactggtgatGaaagtggagctctgcctgtt	13	9	13	6	0	1	2	0	2	1	0	1	4	1	4	1	3	4	3	1	3	4	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:51285652G>T	ENST00000261842.5	+	17	2282	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.E651*	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	726					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AACTGGTGATGAAAGTGGAGC	0.393																																																	0													91	80	84					15																	51285652		2196	4294	6490	SO:0001587	stop_gained	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2176G>T	15.37:g.51285652G>T	ENSP00000261842:p.Glu726*		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.E726*	ENST00000261842.5	37	c.2176	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.933716	0.97122	.	.	ENSG00000081014	ENST00000261842	.	.	.	5.29	1.81	0.25067	.	0.411149	0.28476	N	0.015215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-5.0844	6.238	0.20774	0.2554:0.1454:0.5992:0.0	.	.	.	.	X	726	.	ENSP00000261842:E726X	E	+	1	0	AP4E1	49072944	0.636000	0.27207	0.942000	0.38095	0.819000	0.46315	1.740000	0.38228	0.569000	0.29329	0.563000	0.77884	GAA	AP4E1	-	pirsf_AP4_complex_esu	ENSG00000081014		0.393	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1		0	23	0	G			51285652	1			no_errors	ENST00000261842	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.026	T	T	51285652	G	T	51285652	4	4	40	1	0	0	0	0	0	1	0	0	752	1291	45	3	2242	3	AP4E1	15	51285652	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	500636	51285652	51245740	218	9875											
UNC13C	440279	genome.wustl.edu	37	chr15	54590124	54590124	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatatacatgtttacatgaGgtaaataaatggaattttac	17	14	6	4	0	0	1	0	1	0	0	0	2	0	2	0	2	3	2	0	2	10	8			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:54590124G>A	ENST00000260323.11	+	11	4104	c.4104G>A	c.(4102-4104)gaG>gaA	p.E1368E	UNC13C_ENST00000537900.1_Splice_Site_p.E1366E|UNC13C_ENST00000545554.1_Splice_Site_p.E1368E	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1368					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTTACATGAGGTAAATAAAT	0.289																																																	0													47	44	45					15																	54590124		1805	4064	5869	SO:0001630	splice_region_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4104+1G>A	15.37:g.54590124G>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E1368	ENST00000260323.11	37	c.4104	CCDS45264.1	15																																																																																			UNC13C	-	superfamily_C2_dom	ENSG00000137766		0.289	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3		0	20	0	G	NM_173166	Silent	54590124	1			no_errors	ENST00000260323	ensembl	human	known	74_37	silent	36.36	20	12	SNP	1.000	A	A	54590124	G	A	54590124	5	1	40	1	0	0	0	0	0	0	1	0	17035	1014	35	3	4142	3	UNC13C	15	54590124	Splice_Site	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3304472	54590124	47941268	219	9876											
LMAN1L	79748	genome.wustl.edu	37	chr15	75115035	75115035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtggactctgctccaggCcctgcaagagatgaggtaag	11	7	13	10	0	1	2	0	1	1	1	2	4	2	3	2	3	2	3	2	3	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:75115035C>T	ENST00000309664.5	+	11	1323	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	LMAN1L_ENST00000379709.3_Missense_Mutation_p.A383V|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	395						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGCTCCAGGCCCTGCAAGAG	0.587																																																	0													50	50	50					15																	75115035		2197	4296	6493	SO:0001583	missense	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1184C>T	15.37:g.75115035C>T	ENSP00000310431:p.Ala395Val		Q6UWN2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.A395V	ENST00000309664.5	37	c.1184	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475135	0.26511	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39592	1.1;1.07	4.85	1.37	0.22104	.	1.222890	0.05894	N	0.628699	T	0.32526	0.0832	L	0.38175	1.15	0.24552	N	0.994012	P;P	0.40476	0.718;0.596	B;B	0.38500	0.275;0.142	T	0.20907	-1.0261	10	0.30078	T	0.28	.	6.4753	0.22033	0.3458:0.536:0.1182:0.0	.	383;395	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	V	395;383	ENSP00000310431:A395V;ENSP00000369031:A383V	ENSP00000310431:A395V	A	+	2	0	LMAN1L	72902088	0.902000	0.30710	0.891000	0.34965	0.087000	0.18053	0.502000	0.22594	0.173000	0.19788	0.462000	0.41574	GCC	LMAN1L	-	NULL	ENSG00000140506		0.587	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	-	0	46	0	C			75115035	1	tier1	-	no_errors	ENST00000309664	ensembl	human	known	74_37	missense	12.33	64	9	SNP	0.917	T	T	75115035	C	T	75115035	3	4	40	1	0	0	0	0	1	0	0	0	8867	739	26	3	1226	3	LMAN1L	15	75115035	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	20524911	75115035	27416357	220	9877											
CHRNB4	1143	genome.wustl.edu	37	chr15	78917609	78917609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccggtccaccaccatagCcacgtacttccagtcctcaa	10	7	6	18	2	1	0	1	0	0	0	4	0	4	0	7	1	3	1	7	1	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr15:78917609C>T	ENST00000261751.3	-	6	1474	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Nonsense_Mutation_p.W128*	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	455					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ACCACCATAGCCACGTACTTC	0.602																																																	0													244	202	216					15																	78917609		2196	4293	6489	SO:0001583	missense	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1363G>A	15.37:g.78917609C>T	ENSP00000261751:p.Ala455Thr		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.W128*	ENST00000261751.3	37	c.384	CCDS10306.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.367927|6.367927	0.97511|0.97511	.|.	.|.	ENSG00000117971|ENSG00000117971	ENST00000261751|ENST00000412074	T|.	0.77358|.	-1.09|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.89001|.	0.6591|.	H|H	0.97852|0.97852	4.09|4.09	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|.	0.92953|.	0.6382|.	10|.	0.87932|0.87932	D|D	0|0	.|.	17.937|17.937	0.89015|0.89015	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	455|.	P30926|.	ACHB4_HUMAN|.	T|X	455|128	ENSP00000261751:A455T|.	ENSP00000261751:A455T|ENSP00000416386:W128X	A|W	-|-	1|3	0|0	CHRNB4|CHRNB4	76704664|76704664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.791000|7.791000	0.85805|0.85805	2.600000|2.600000	0.87896|0.87896	0.561000|0.561000	0.74099|0.74099	GCT|TGG	CHRNB4	-	NULL	ENSG00000117971		0.602	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	-	0	33	0	C			78917609	-1	tier1	-	no_errors	ENST00000412074	ensembl	human	putative	74_37	nonsense	6.06	62	4	SNP	1.000	T	T	78917609	C	T	78917609	3	4	40	1	0	0	0	0	1	0	0	0	3400	739	26	3	137	3	CHRNB4	15	78917609	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	3802574	78917609	23613783	221	9878											
NUP93	9688	genome.wustl.edu	37	chr16	56782289	56782289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggcgggagagcgcctgCgttcccgtaccctaacacgc	8	5	13	15	5	0	1	0	0	0	1	1	2	1	1	3	2	5	3	3	2	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:56782289C>T	ENST00000308159.5	+	2	251	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	NUP93_ENST00000569842.1_Missense_Mutation_p.R44C	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	44					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGAGCGCCTGCGTTCCCGTAC	0.587																																					Colon(33;610 796 1305 1705 38917)												0													49	46	47					16																	56782289		2198	4300	6498	SO:0001583	missense	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.130C>T	16.37:g.56782289C>T	ENSP00000310668:p.Arg44Cys		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.R44C	ENST00000308159.5	37	c.130	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898105	0.72639	.	.	ENSG00000102900	ENST00000308159	T	0.49432	0.78	6.16	4.24	0.50183	.	0.046027	0.85682	N	0.000000	T	0.38268	0.1034	L	0.40543	1.245	0.80722	D	1	D	0.55172	0.97	B	0.40534	0.332	T	0.16100	-1.0414	10	0.38643	T	0.18	-5.2788	13.4031	0.60893	0.0:0.8734:0.0:0.1266	.	44	Q8N1F7	NUP93_HUMAN	C	44	ENSP00000310668:R44C	ENSP00000310668:R44C	R	+	1	0	NUP93	55339790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.895000	0.56258	0.958000	0.37956	-0.133000	0.14855	CGT	NUP93	-	NULL	ENSG00000102900		0.587	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0	40	0	C	NM_014669		56782289	1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	73.91	6	17	SNP	1.000	T	T	56782289	C	T	56782289	3	4	40	1	0	0	0	0	1	0	0	0	10811	768	27	1	132	1	NUP93	16	56782289	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09		56782289	33572464	222	9879											
CDH8	1006	genome.wustl.edu	37	chr16	61689518	61689518	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcaaggtgctagtgcTgctcagtggaggatttccac	8	12	13	8	0	2	0	2	0	0	0	3	3	3	2	1	3	3	3	1	3	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:61689518T>G	ENST00000577390.1	-	11	2716	c.1762A>C	c.(1762-1764)Agc>Cgc	p.S588R	CDH8_ENST00000577730.1_Missense_Mutation_p.S588R|CDH8_ENST00000299345.6_Missense_Mutation_p.S588R	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	588	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTGCTAGTGCTGCTCAGTGGA	0.453																																																	0													153	133	139					16																	61689518		2203	4300	6503	SO:0001583	missense	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"Cadherins / Major cadherins"	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1762A>C	16.37:g.61689518T>G	ENSP00000462701:p.Ser588Arg		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S588R	ENST00000577390.1	37	c.1762	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717379	0.89205	.	.	ENSG00000150394	ENST00000299345	T	0.54866	0.55	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78780	0.4337	H	0.95982	3.75	0.80722	D	1	P	0.50272	0.933	P	0.58391	0.838	D	0.85678	0.1299	10	0.87932	D	0	.	14.82	0.70065	0.0:0.0:0.0:1.0	.	588	P55286	CADH8_HUMAN	R	588	ENSP00000299345:S588R	ENSP00000299345:S588R	S	-	1	0	CDH8	60247019	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.649000	0.83500	2.101000	0.63845	0.459000	0.35465	AGC	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150394		0.453	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	-	0	39	0	T	NM_001796		61689518	-1	tier1	-	no_errors	ENST00000577390	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	G	G	61689518	T	G	61689518	3	3	40	1	0	0	0	0	1	0	0	0	3123	1580	55	4	645	4	CDH8	16	61689518	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	4907229	61689518	28665235	223	9880											
ADAD2	161931	genome.wustl.edu	37	chr16	84228731	84228731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagcgccggctttgacCtcctgttggacgagcgctcg	4	10	15	12	5	0	2	0	2	0	0	2	4	1	3	3	3	2	3	3	3	0	2	rs370124287		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr16:84228731C>T	ENST00000315906.5	+	4	716	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.L294F|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	222					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGGCTTTGACCTCCTGTTGGA	0.667																																																	0								C	PHE/LEU,PHE/LEU	1,4399	2.1+/-5.4	0,1,2199	39	40	40		664,880	2.8	0	16		40	0,8600		0,0,4300	no	missense,missense	ADAD2	NM_001145400.1,NM_139174.3	22,22	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	222/584,294/666	84228731	1,12999	2200	4300	6500	SO:0001583	missense	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.664C>T	16.37:g.84228731C>T	ENSP00000325153:p.Leu222Phe		B2RCL6|Q8NA94	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.L294F	ENST00000315906.5	37	c.880	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394461	0.11638	2.27E-4	0.0	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.18174	2.26;2.23	4.81	2.85	0.33270	.	0.519226	0.17711	N	0.164571	T	0.08313	0.0207	N	0.08118	0	0.22866	N	0.998636	B;P	0.39717	0.207;0.684	B;B	0.37144	0.047;0.242	T	0.16689	-1.0394	10	0.59425	D	0.04	-9.5227	7.7914	0.29123	0.0:0.8057:0.0:0.1943	.	222;294	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	F	222;294	ENSP00000325153:L222F;ENSP00000268624:L294F	ENSP00000268624:L294F	L	+	1	0	ADAD2	82786232	0.999000	0.42202	0.027000	0.17364	0.006000	0.05464	1.197000	0.32211	0.557000	0.29117	-0.781000	0.03364	CTC	ADAD2	-	smart_A_deamin	ENSG00000140955		0.667	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0	103	0	C	NM_139174		84228731	1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.982	T	T	84228731	C	T	84228731	3	4	40	1	0	0	0	0	1	0	0	0	232	681	24	3	898	3	ADAD2	16	84228731	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	22539213	84228731	6126022	224	9881											
KIAA0664	23277	genome.wustl.edu	37	chr17	2598212	2598212	+	Frame_Shift_Del	DEL	G	G	-																															gatgttcttccagagctcctGgggggtcatgacagcccagg																										TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:2598212delG	ENST00000570628.2	-	16	2779	c.2674delC	c.(2674-2676)cagfs	p.Q892fs	CLUH_ENST00000435359.1_Frame_Shift_Del_p.Q892fs|CLUH_ENST00000538975.1_Frame_Shift_Del_p.Q892fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	892					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CAGAGCTCCTGGGGGGTCATG	0.632																																																	0													18	22	21					17																	2598212		1876	4096	5972	SO:0001589	frameshift_variant	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.2674delC	17.37:g.2598212delG	ENSP00000458986:p.Gln892fs		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Del	DEL	superfamily_GSKIP_dom	p.Q892fs	ENST00000570628.2	37	c.2674	CCDS45572.1	17																																																																																			CLUH	-	NULL	ENSG00000132361		0.632	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	HGNC	protein_coding	OTTHUMT00000437807.2		0	66	0	G	NM_015229		2598212	-1	tier1		no_errors	ENST00000435359	ensembl	human	known	74_37	frame_shift_del	5.77	49	3	DEL	1.000	-	-	2598212	G	-	2598212	7	5	40	1	0	1	0	1	0	0	0	0	8216	1357	47	0	1299	0	KIAA0664	17	2598212	Frame_Shift_Del	DEL	G	TCGA-JY-A6FH-01A-11D-A33E-09		2598212	78596998	225	9882											
TP53	7157	genome.wustl.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	29	0	G	NM_000546		7577121	-1	tier1	rs121913343	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	82.76	5	24	SNP	0.830	A	A	7577121	G	A	7577121	3	1	40	1	0	0	0	0	1	0	0	0	16429	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	4978909	7577121	73618089	226	9883											
KDM6B	23135	genome.wustl.edu	37	chr17	7754804	7754804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccagcagcagcgcacCagacccgaagaaccatcaca	13	2	8	18	3	1	2	1	0	0	2	2	3	1	2	5	0	4	3	5	0	2	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:7754804C>A	ENST00000448097.2	+	16	4284	c.3953C>A	c.(3952-3954)cCa>cAa	p.P1318Q	KDM6B_ENST00000254846.5_Missense_Mutation_p.P1318Q			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1318					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGCAGCGCACCAGACCCGAAG	0.592																																																	0													116	109	111					17																	7754804		2203	4300	6503	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3953C>A	17.37:g.7754804C>A	ENSP00000412513:p.Pro1318Gln		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P1318Q	ENST00000448097.2	37	c.3953		17	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338335	0.41398	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.73469	-0.75;-0.75	5.24	5.24	0.73138	.	0.280861	0.34245	N	0.004122	T	0.73110	0.3545	L	0.46157	1.445	0.40929	D	0.984376	P;D	0.55172	0.457;0.97	P;P	0.45506	0.476;0.483	T	0.75720	-0.3219	10	0.48119	T	0.1	-2.4451	18.473	0.90781	0.0:1.0:0.0:0.0	.	1318;1318	O15054;O15054-1	KDM6B_HUMAN;.	Q	1318	ENSP00000254846:P1318Q;ENSP00000412513:P1318Q	ENSP00000254846:P1318Q	P	+	2	0	KDM6B	7695529	0.015000	0.18098	0.921000	0.36526	0.912000	0.54170	1.563000	0.36364	2.834000	0.97654	0.650000	0.86243	CCA	KDM6B	-	NULL	ENSG00000132510		0.592	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1		0	73	0	C	XM_043272		7754804	1			no_errors	ENST00000254846	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.996	A	A	7754804	C	A	7754804	3	1	40	1	0	0	0	0	1	0	0	0	8165	594	21	3	4003	3	KDM6B	17	7754804	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	177683	7754804	73440406	227	9884											
MYH4	4622	genome.wustl.edu	37	chr17	10351436	10351436	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgccttcttcatgctcaAgagatgccttaataaaagca	12	14	6	9	0	3	1	2	0	1	1	3	2	3	1	2	0	4	2	2	0	4	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:10351436A>C	ENST00000255381.2	-	34	4774	c.4664T>G	c.(4663-4665)cTt>cGt	p.L1555R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1555					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCATGCTCAAGAGATGCCTT	0.333																																																	0													91	81	85					17																	10351436		2202	4300	6502	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4664T>G	17.37:g.10351436A>C	ENSP00000255381:p.Leu1555Arg			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1555R	ENST00000255381.2	37	c.4664	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308322	0.81247	.	.	ENSG00000141048	ENST00000255381	D	0.83335	-1.71	5.59	5.59	0.84812	Myosin tail (1);	0.000000	0.33327	U	0.005026	D	0.89962	0.6867	M	0.76170	2.325	0.58432	D	0.999998	P	0.44344	0.833	P	0.59171	0.853	D	0.90960	0.4812	10	0.87932	D	0	.	16.0459	0.80720	1.0:0.0:0.0:0.0	.	1555	Q9Y623	MYH4_HUMAN	R	1555	ENSP00000255381:L1555R	ENSP00000255381:L1555R	L	-	2	0	MYH4	10292161	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	2.250000	0.74265	0.533000	0.62120	CTT	MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.333	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0	9	0	A	NM_017533		10351436	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	76.47	4	13	SNP	1.000	C	C	10351436	A	C	10351436	3	2	40	1	0	0	0	0	1	0	0	0	10075	72	3	4	1183	4	MYH4	17	10351436	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	2596632	10351436	70843774	228	9885											
ZNF287	57336	genome.wustl.edu	37	chr17	16456371	16456371	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaaggcttctctccaggaAgtattttcctatgtacaata	11	15	7	8	0	1	0	0	0	1	0	4	1	3	1	2	2	1	4	2	2	7	8			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:16456371A>C	ENST00000395824.1	-	6	1702	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	ZNF287_ENST00000395825.3_Missense_Mutation_p.L362R			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	355					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTCTCCAGGAAGTATTTTCCT	0.383																																																	0													97	94	95					17																	16456371		2203	4300	6503	SO:0001583	missense	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1085T>G	17.37:g.16456371A>C	ENSP00000379168:p.Leu362Arg		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L362R	ENST00000395824.1	37	c.1085	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	A	4.533	0.098962	0.08681	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.15372	2.43;2.43	5.31	-1.34	0.09143	.	1.153740	0.06444	N	0.726458	T	0.08980	0.0222	N	0.08118	0	0.27356	N	0.956119	B	0.20671	0.047	B	0.19148	0.024	T	0.38045	-0.9679	10	0.72032	D	0.01	.	6.8847	0.24193	0.5057:0.0856:0.0:0.4086	.	355	Q9HBT7	ZN287_HUMAN	R	362	ENSP00000379169:L362R;ENSP00000379168:L362R	ENSP00000379168:L362R	L	-	2	0	ZNF287	16397096	1.000000	0.71417	0.231000	0.23993	0.019000	0.09904	1.146000	0.31589	-0.388000	0.07797	-0.336000	0.08194	CTT	ZNF287	-	NULL	ENSG00000141040		0.383	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0	22	0	A			16456371	-1	tier1	-	no_errors	ENST00000395824	ensembl	human	known	74_37	missense	69.23	8	18	SNP	0.914	C	C	16456371	A	C	16456371	3	2	40	1	0	0	0	0	1	0	0	0	17873	72	3	4	1204	4	ZNF287	17	16456371	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	6104935	16456371	64738839	229	9886											
ZNF624	57547	genome.wustl.edu	37	chr17	16525650	16525650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attctttgatgtacagtaagGctcgaactactcctgaaggc	11	12	9	9	1	1	2	0	2	1	0	3	3	2	2	1	2	3	3	1	2	5	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:16525650G>T	ENST00000311331.7	-	6	2641	c.2550C>A	c.(2548-2550)agC>agA	p.S850R		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	850					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S850S(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTACAGTAAGGCTCGAACTAC	0.348																																					NSCLC(186;1023 2134 13330 38202 39800)												1	Substitution - coding silent(1)	ovary(1)											134	136	135					17																	16525650		2203	4300	6503	SO:0001583	missense	0			AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"Zinc fingers, C2H2-type", "-"	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2550C>A	17.37:g.16525650G>T	ENSP00000310472:p.Ser850Arg		Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S850R	ENST00000311331.7	37	c.2550	CCDS11180.1	17	.	.	.	.	.	.	.	.	.	.	G	5.433	0.264995	0.10294	.	.	ENSG00000197566	ENST00000311331	T	0.15834	2.39	2.97	2.97	0.34412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	M	0.66506	2.035	0.26567	N	0.973628	P	0.38922	0.651	B	0.33196	0.159	T	0.09796	-1.0658	9	0.21014	T	0.42	.	6.0333	0.19692	0.1385:0.0:0.8615:0.0	.	850	Q9P2J8	ZN624_HUMAN	R	850	ENSP00000310472:S850R	ENSP00000310472:S850R	S	-	3	2	ZNF624	16466375	0.102000	0.21896	1.000000	0.80357	0.993000	0.82548	0.511000	0.22739	1.983000	0.57843	0.563000	0.77884	AGC	ZNF624	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197566		0.348	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF624	HGNC	protein_coding	OTTHUMT00000130512.3		0	35	0	G	XM_047617		16525650	-1			no_errors	ENST00000311331	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	16525650	G	T	16525650	3	4	40	1	0	0	0	0	1	0	0	0	18096	1194	42	3	51	3	ZNF624	17	16525650	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	69279	16525650	64669560	230	9887											
CCDC144A	9720	genome.wustl.edu	37	chr17	16593966	16593966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaagatcttggcgagctCcacagagctgcccggtcggg	7	7	15	12	3	1	2	0	0	1	2	3	4	2	3	2	4	3	2	2	4	1	1	rs369164566		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:16593966C>A	ENST00000360524.8	+	1	328	c.252C>A	c.(250-252)ctC>ctA	p.L84L	RNU6-405P_ENST00000516637.1_RNA|RP11-219A15.1_ENST00000448331.3_Silent_p.L84L|CCDC144A_ENST00000399273.1_Silent_p.L84L|CCDC144A_ENST00000340621.5_Silent_p.L84L|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000443444.2_Silent_p.L84L|CCDC144A_ENST00000456009.1_Silent_p.L84L	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	84																	TTGGCGAGCTCCACAGAGCTG	0.622																																																	0								C		0,4406		0,0,2203	88	99	95		252	0.5	0	17		95	1,8595		0,1,4297	no	coding-synonymous	CCDC144A	NM_014695.1		0,1,6500	AA,AC,CC		0.0116,0.0,0.0077		84/1428	16593966	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.252C>A	17.37:g.16593966C>A			O60311|Q6ZU57	Silent	SNP	pfam_DUF3496	p.L84	ENST00000360524.8	37	c.252	CCDS45621.1	17																																																																																			CCDC144A	-	NULL	ENSG00000170160		0.622	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	-	0	88	0	C			16593966	1	tier1	-	no_errors	ENST00000360524	ensembl	human	known	74_37	silent	81.63	9	40	SNP	0.016	A	A	16593966	C	A	16593966	2	1	40	1	0	0	0	0	0	0	0	1	2784	842	30	3		3	CCDC144A	17	16593966	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	68316	16593966	64601244	231	9888											
SLFN5	162394	genome.wustl.edu	37	chr17	33586292	33586292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcctgagtccacacatGttgaatttgtaatgttctcg	9	15	7	10	1	1	2	0	2	1	0	4	2	3	2	3	0	0	3	3	0	2	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:33586292G>T	ENST00000299977.4	+	2	731	c.583G>T	c.(583-585)Gtt>Ttt	p.V195F	SLFN5_ENST00000592325.1_Missense_Mutation_p.V195F|SLFN5_ENST00000542451.1_Missense_Mutation_p.V195F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	195					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTCCACACATGTTGAATTTGT	0.388																																																	0													165	154	158					17																	33586292		2203	4300	6503	SO:0001583	missense	0			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.583G>T	17.37:g.33586292G>T	ENSP00000299977:p.Val195Phe		Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.V195F	ENST00000299977.4	37	c.583	CCDS32619.1	17	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367125	0.24771	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.35236	1.32;1.32	3.55	2.58	0.30949	.	0.629773	0.12139	N	0.496024	T	0.59059	0.2166	M	0.83774	2.66	0.32021	N	0.60079	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.97110	0.979;0.963;1.0	T	0.62186	-0.6907	10	0.87932	D	0	.	6.9122	0.24340	0.1297:0.0:0.8703:0.0	.	195;195;195	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	F	195	ENSP00000299977:V195F;ENSP00000440537:V195F	ENSP00000299977:V195F	V	+	1	0	SLFN5	30610405	0.240000	0.23847	0.617000	0.29091	0.002000	0.02628	1.147000	0.31602	0.822000	0.34565	-0.253000	0.11424	GTT	SLFN5	-	pfam_ATPase_AAA-4	ENSG00000166750		0.388	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2		0	19	0	G	NM_144975		33586292	1			no_errors	ENST00000299977	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.844	T	T	33586292	G	T	33586292	3	4	40	1	0	0	0	0	1	0	0	0	14782	1377	48	3	585	3	SLFN5	17	33586292	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	16992326	33586292	47608918	232	9889											
PSMB3	5691	genome.wustl.edu	37	chr17	36920394	36920394	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacaaaatcaccaccAggacactgaaggcccgaatg	17	3	10	11	1	1	2	1	1	0	1	1	5	1	4	3	3	0	0	3	3	5	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:36920394A>T	ENST00000225426.4	+	6	683	c.592A>T	c.(592-594)Agg>Tgg	p.R198W		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						AATCACCACCAGGACACTGAA	0.468																																																	0													77	62	67					17																	36920394		2203	4300	6503	SO:0001583	missense	0			BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"Proteasome (prosome, macropain) subunits"	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.592A>T	17.37:g.36920394A>T	ENSP00000225426:p.Arg198Trp		P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	pfam_Proteasome_sua/b	p.R198W	ENST00000225426.4	37	c.592	CCDS11328.1	17	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385020	0.82792	.	.	ENSG00000108294	ENST00000225426	T	0.44482	0.92	5.34	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.88570	2.965	0.58432	D	0.999993	D	0.76494	0.999	D	0.77557	0.99	T	0.70718	-0.4795	10	0.87932	D	0	.	10.3393	0.43868	0.45:0.55:0.0:0.0	.	198	P49720	PSB3_HUMAN	W	198	ENSP00000225426:R198W	ENSP00000225426:R198W	R	+	1	2	PSMB3	34173920	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.284000	0.33249	0.870000	0.35726	0.414000	0.27820	AGG	PSMB3	-	NULL	ENSG00000108294		0.468	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB3	HGNC	protein_coding	OTTHUMT00000256810.2	-	0	71	0	A	NM_002795		36920394	1	tier1	-	no_errors	ENST00000225426	ensembl	human	known	74_37	missense	47.83	60	55	SNP	1.000	T	T	36920394	A	T	36920394	3	4	40	1	0	0	0	0	1	0	0	0	12720	179	7	5	614	5	PSMB3	17	36920394	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	3334102	36920394	44274816	233	9890											
KRT27	342574	genome.wustl.edu	37	chr17	38938651	38938651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccgcatgtgtttccaGccccaaagcctgctccccca	8	7	7	19	1	0	0	0	0	0	0	2	0	2	0	7	0	3	4	7	0	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:38938651G>T	ENST00000301656.3	-	1	135	c.95C>A	c.(94-96)gCt>gAt	p.A32D		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGTGTTTCCAGCCCCAAAGCC	0.602																																																	0													61	57	59					17																	38938651		2203	4300	6503	SO:0001583	missense	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.95C>A	17.37:g.38938651G>T	ENSP00000301656:p.Ala32Asp			Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.A32D	ENST00000301656.3	37	c.95	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	13.09	2.134097	0.37630	.	.	ENSG00000171446	ENST00000301656	D	0.83506	-1.73	5.25	4.23	0.50019	.	0.194339	0.36555	N	0.002540	T	0.80110	0.4563	M	0.64404	1.975	0.18873	N	0.999987	B	0.29590	0.25	B	0.34452	0.183	T	0.73375	-0.4002	10	0.62326	D	0.03	.	7.7016	0.28625	0.0982:0.2692:0.6326:0.0	.	32	Q7Z3Y8	K1C27_HUMAN	D	32	ENSP00000301656:A32D	ENSP00000301656:A32D	A	-	2	0	KRT27	36192177	0.000000	0.05858	0.420000	0.26596	0.022000	0.10575	-0.332000	0.07904	1.229000	0.43630	0.655000	0.94253	GCT	KRT27	-	NULL	ENSG00000171446		0.602	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	-	0	51	0	G	NM_181537		38938651	-1	tier1	-	no_errors	ENST00000301656	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.179	T	T	38938651	G	T	38938651	3	4	40	1	0	0	0	0	1	0	0	0	8491	971	34	3	1316	3	KRT27	17	38938651	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2018257	38938651	42256559	234	9891											
EZH1	2145	genome.wustl.edu	37	chr17	40861907	40861907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggggttcatgagctcatCtgttggcagcttcaggataa	9	12	13	7	0	4	2	3	2	1	0	4	3	4	3	0	4	2	5	0	4	1	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:40861907C>T	ENST00000428826.2	-	13	1571	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	EZH1_ENST00000415827.2_Missense_Mutation_p.D475N|EZH1_ENST00000435174.1_Missense_Mutation_p.D345N|EZH1_ENST00000590078.1_Missense_Mutation_p.D414N|EZH1_ENST00000585893.1_Missense_Mutation_p.D444N|EZH1_ENST00000592743.1_Missense_Mutation_p.D484N|EZH1_ENST00000590783.1_5'Flank			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	484					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		ATGAGCTCATCTGTTGGCAGC	0.488																																																	0													235	214	221					17																	40861907		2203	4300	6503	SO:0001583	missense	0				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1450G>A	17.37:g.40861907C>T	ENSP00000404658:p.Asp484Asn		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.D484N	ENST00000428826.2	37	c.1450	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423496	0.43020	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.78924	-1.22;-1.22	5.34	3.23	0.37069	.	0.414963	0.29964	N	0.010752	T	0.51568	0.1682	N	0.08118	0	0.33831	D	0.630227	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.005;0.001;0.001;0.001;0.0	T	0.50372	-0.8836	10	0.17369	T	0.5	.	4.5069	0.11893	0.0:0.5963:0.0:0.4037	.	345;444;490;414;484	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	N	487;484;444;345	ENSP00000404658:D484N;ENSP00000404071:D345N	ENSP00000264646:D487N	D	-	1	0	EZH1	38115433	0.851000	0.29673	1.000000	0.80357	0.986000	0.74619	1.309000	0.33539	1.482000	0.48325	0.655000	0.94253	GAT	EZH1	-	NULL	ENSG00000108799		0.488	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	-	0	52	0	C	NM_001991		40861907	-1	tier1	-	no_errors	ENST00000428826	ensembl	human	known	74_37	missense	7.34	101	8	SNP	1.000	T	T	40861907	C	T	40861907	3	4	40	1	0	0	0	0	1	0	0	0	5349	913	32	3	829	3	EZH1	17	40861907	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1923256	40861907	40333303	235	9892											
GPATCH8	23131	genome.wustl.edu	37	chr17	42476757	42476757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtgatctgtcactgtaGtcactgtagctgtcatcaga	8	14	9	10	1	5	2	4	1	1	1	6	2	5	2	0	0	1	3	0	0	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:42476757G>T	ENST00000591680.1	-	8	2718	c.2688C>A	c.(2686-2688)gaC>gaA	p.D896E	GPATCH8_ENST00000434000.1_Missense_Mutation_p.D818E	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	896	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGTCACTGTAGTCACTGTAGC	0.493																																																	0													135	115	122					17																	42476757		2203	4300	6503	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2688C>A	17.37:g.42476757G>T	ENSP00000467556:p.Asp896Glu		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.D896E	ENST00000591680.1	37	c.2688	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	11.21	1.571353	0.28003	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.13089	2.62	5.21	3.22	0.36961	.	0.052338	0.85682	D	0.000000	T	0.19248	0.0462	L	0.27053	0.805	0.41222	D	0.98651	D	0.76494	0.999	D	0.63192	0.912	T	0.01982	-1.1235	10	0.27785	T	0.31	-21.1676	11.7348	0.51759	0.1449:0.0:0.8551:0.0	.	896	Q9UKJ3	GPTC8_HUMAN	E	896;818	ENSP00000395016:D818E	ENSP00000335486:D896E	D	-	3	2	GPATCH8	39832283	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.400000	0.44504	0.788000	0.33755	-0.291000	0.09656	GAC	GPATCH8	-	NULL	ENSG00000186566		0.493	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0	45	0	G	NM_001002909		42476757	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T	T	42476757	G	T	42476757	3	4	40	1	0	0	0	0	1	0	0	0	6620	1020	36	3	1824	3	GPATCH8	17	42476757	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1614850	42476757	38718453	236	9893											
CDC27	996	genome.wustl.edu	37	chr17	45214617	45214617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaactcatgccctaatagaGtataggcataagcgtaattt	15	11	7	8	1	1	1	1	0	0	1	1	1	1	1	1	1	3	3	1	1	7	7	rs138264973		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:45214617G>T	ENST00000066544.3	-	14	1907	c.1814C>A	c.(1813-1815)aCt>aAt	p.T605N	CDC27_ENST00000531206.1_Missense_Mutation_p.T611N|CDC27_ENST00000446365.2_Missense_Mutation_p.T544N|CDC27_ENST00000527547.1_Missense_Mutation_p.T604N	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	605					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCCTAATAGAGTATAGGCATA	0.388																																																	0													56	58	58					17																	45214617		2203	4300	6503	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1814C>A	17.37:g.45214617G>T	ENSP00000066544:p.Thr605Asn		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T611N	ENST00000066544.3	37	c.1832	CCDS11509.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.342757	0.95783	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78201	0.4246	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.999;0.998	D;P;D;D	0.74348	0.983;0.824;0.971;0.976	T	0.82190	-0.0580	10	0.87932	D	0	-13.564	17.5633	0.87913	0.0:0.0:1.0:0.0	.	544;604;611;605	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	N	605;611;544;604	ENSP00000066544:T605N;ENSP00000434614:T611N;ENSP00000392802:T544N;ENSP00000437339:T604N	ENSP00000066544:T605N	T	-	2	0	CDC27	42569616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.033000	0.88852	2.761000	0.94854	0.585000	0.79938	ACT	CDC27	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004897		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0	37	0	G			45214617	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	7.45	87	7	SNP	1.000	T	T	45214617	G	T	45214617	3	4	40	1	0	0	0	0	1	0	0	0	3073	1029	36	3	684	3	CDC27	17	45214617	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2737860	45214617	35980593	237	9894											
HOXB9	3219	genome.wustl.edu	37	chr17	46703145	46703145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctttgtcctcgcttcCttcgcaaattttattgtccc	4	18	4	15	2	1	0	0	0	1	0	7	0	4	0	4	0	0	2	4	0	2	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:46703145C>G	ENST00000311177.5	-	1	694	c.487G>C	c.(487-489)Gga>Cga	p.G163R	HOXB7_ENST00000567101.2_Intron|HOXB-AS4_ENST00000480386.1_RNA|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	163					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TCCTCGCTTCCTTCGCAAATT	0.547																																																	0													63	71	68					17																	46703145		2203	4300	6503	SO:0001583	missense	0				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.487G>C	17.37:g.46703145C>G	ENSP00000309439:p.Gly163Arg		B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G163R	ENST00000311177.5	37	c.487	CCDS11534.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944581	0.73672	.	.	ENSG00000170689	ENST00000311177	D	0.93859	-3.3	4.63	4.63	0.57726	Homeodomain-related (1);Hox9, N-terminal activation domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.62723	1.935	0.80722	D	1	P	0.49783	0.928	P	0.54210	0.745	D	0.93543	0.6879	10	0.32370	T	0.25	.	17.4325	0.87543	0.0:1.0:0.0:0.0	.	163	P17482	HXB9_HUMAN	R	163	ENSP00000309439:G163R	ENSP00000309439:G163R	G	-	1	0	HOXB9	44058144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.328000	0.79160	2.259000	0.74868	0.555000	0.69702	GGA	HOXB9	-	pfam_Hox9_activation_N,superfamily_Homeodomain-like,pirsf_Homeobox_Hox9	ENSG00000170689		0.547	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2	-	0	45	0	C			46703145	-1	tier1	-	no_errors	ENST00000311177	ensembl	human	known	74_37	missense	84.62	6	33	SNP	1.000	G	G	46703145	C	G	46703145	3	3	40	1	0	0	0	0	1	0	0	0	7335	690	24	5	273	5	HOXB9	17	46703145	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1488528	46703145	34492065	238	9895											
MPO	4353	genome.wustl.edu	37	chr17	56357278	56357278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccacgtgcaggtagtcagCggccctcaccgccgtcctgg	6	6	13	16	4	2	0	2	0	0	0	3	0	3	0	5	3	3	2	5	3	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:56357278C>T	ENST00000225275.3	-	3	522	c.346G>A	c.(346-348)Gct>Act	p.A116T	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.A116T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	116					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGGTAGTCAGCGGCCCTCACC	0.627																																																	0													44	40	41					17																	56357278		2203	4300	6503	SO:0001583	missense	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.346G>A	17.37:g.56357278C>T	ENSP00000225275:p.Ala116Thr		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A116T	ENST00000225275.3	37	c.346	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126856	0.77549	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.78003	-1.14;-0.62	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	M	0.85945	2.785	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.91080	0.4899	10	0.87932	D	0	-10.4195	17.8044	0.88598	0.0:1.0:0.0:0.0	.	116	P05164	PERM_HUMAN	T	116	ENSP00000344419:A116T;ENSP00000225275:A116T	ENSP00000225275:A116T	A	-	1	0	MPO	53712277	1.000000	0.71417	0.967000	0.41034	0.370000	0.29829	6.562000	0.73960	2.455000	0.83008	0.561000	0.74099	GCT	MPO	-	NULL	ENSG00000005381		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0	87	0	C			56357278	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	17.57	61	13	SNP	0.980	T	T	56357278	C	T	56357278	3	4	40	1	0	0	0	0	1	0	0	0	9770	768	27	1	1931	1	MPO	17	56357278	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	9654133	56357278	24837932	239	9896											
CA4	762	genome.wustl.edu	37	chr17	58234883	58234883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctgcactggtccgacttgCcatataagggctcggagcac	9	8	11	13	2	0	0	0	0	0	0	2	2	1	1	3	3	3	3	3	3	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:58234883C>T	ENST00000300900.4	+	4	463	c.364C>T	c.(364-366)Cca>Tca	p.P122S		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	122					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GTCCGACTTGCCATATAAGGG	0.612																																																	0													149	135	140					17																	58234883		2203	4300	6503	SO:0001583	missense	0			L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"Carbonic anhydrases"	1375	protein-coding gene	gene with protein product		114760	"retinitis pigmentosa 17 (autosomal dominant)"	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.364C>T	17.37:g.58234883C>T	ENSP00000300900:p.Pro122Ser		B4DQA4|Q6FHI7	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.P122S	ENST00000300900.4	37	c.364	CCDS11624.1	17	.	.	.	.	.	.	.	.	.	.	C	4.195	0.034846	0.08101	.	.	ENSG00000167434	ENST00000300900	T	0.70516	-0.49	4.61	-9.21	0.00678	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.885140	0.02503	N	0.090734	T	0.27241	0.0668	N	0.00554	-1.385	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.35773	-0.9775	10	0.09084	T	0.74	.	2.7269	0.05216	0.5152:0.1127:0.0871:0.2851	.	122	P22748	CAH4_HUMAN	S	122	ENSP00000300900:P122S	ENSP00000300900:P122S	P	+	1	0	CA4	55589665	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.898000	0.01602	-2.537000	0.00488	-0.521000	0.04368	CCA	CA4	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000167434		0.612	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA4	HGNC	protein_coding	OTTHUMT00000449189.1	-	0	36	0	C	NM_000717		58234883	1	tier1	-	no_errors	ENST00000300900	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	T	T	58234883	C	T	58234883	3	4	40	1	0	0	0	0	1	0	0	0	2525	739	26	3	378	3	CA4	17	58234883	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1877605	58234883	22960327	240	9897											
ABCA10	10349	genome.wustl.edu	37	chr17	67218024	67218024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaaatttcaccatgcatgGcccaacagtgttctttaagg	14	11	7	9	0	2	0	1	0	1	0	2	0	2	0	2	2	2	2	2	2	5	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:67218024G>A	ENST00000269081.4	-	6	1121	c.212C>T	c.(211-213)gCc>gTc	p.A71V	ABCA10_ENST00000432313.2_Missense_Mutation_p.A71V|ABCA10_ENST00000416101.2_Missense_Mutation_p.A71V|ABCA10_ENST00000423818.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	71					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCATGCATGGCCCAACAGTG	0.348																																																	0													67	63	64					17																	67218024		2203	4300	6503	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.212C>T	17.37:g.67218024G>A	ENSP00000269081:p.Ala71Val		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A71V	ENST00000269081.4	37	c.212	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	G	6.322	0.427516	0.11987	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.87103	-2.21;-1.99;-1.7	3.0	-6.0	0.02206	.	.	.	.	.	T	0.72374	0.3452	L	0.27053	0.805	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.56068	-0.8040	9	0.30078	T	0.28	.	3.0692	0.06225	0.1039:0.1371:0.2054:0.5535	.	71	Q8WWZ4	ABCAA_HUMAN	V	71	ENSP00000269081:A71V;ENSP00000407772:A71V;ENSP00000387674:A71V	ENSP00000269081:A71V	A	-	2	0	ABCA10	64729619	.	.	0.000000	0.03702	0.007000	0.05969	.	.	-1.438000	0.01965	-0.321000	0.08615	GCC	ABCA10	-	NULL	ENSG00000154263		0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	23	0	G	NM_080282		67218024	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	42.03	40	29	SNP	0.000	A	A	67218024	G	A	67218024	3	1	40	1	0	0	0	0	1	0	0	0	29	1203	42	3	4559	3	ABCA10	17	67218024	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	8983141	67218024	13977186	241	9898											
P4HB	5034	genome.wustl.edu	37	chr17	79805186	79805186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtccagcaggttctccttgGtgacctccccttcaaagttg	7	12	9	13	0	2	1	1	1	1	0	5	1	4	1	5	2	1	3	5	2	1	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr17:79805186G>T	ENST00000331483.4	-	5	884	c.662C>A	c.(661-663)aCc>aAc	p.T221N	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Missense_Mutation_p.T177N	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	221					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTTCTCCTTGGTGACCTCCCC	0.602																																					Colon(49;444 983 1296 7887 42561)												0													150	149	149					17																	79805186		2203	4300	6503	SO:0001583	missense	0			J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"Protein disulfide isomerases"	8548	protein-coding gene	gene with protein product	"protein disulfide isomerase-associated 1", "protein disulfide isomerase family A, member 1", "collagen prolyl 4-hydroxylase beta"	176790	"procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)", "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.662C>A	17.37:g.79805186G>T	ENSP00000327801:p.Thr221Asn		B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.T221N	ENST00000331483.4	37	c.662	CCDS11787.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.28|15.28	2.788183|2.788183	0.49997|0.49997	.|.	.|.	ENSG00000185624|ENSG00000185624	ENST00000415593;ENST00000439918|ENST00000331483;ENST00000537205;ENST00000436463	.|T	.|0.30448	.|1.53	5.77|5.77	4.79|4.79	0.61399|0.61399	.|Thioredoxin-like fold (2);	.|0.142710	.|0.64402	.|D	.|0.000006	T|T	0.34019|0.34019	0.0883|0.0883	M|M	0.67625|0.67625	2.065|2.065	0.58432|0.58432	D|D	0.999999|0.999999	.|B	.|0.10296	.|0.003	.|B	.|0.17979	.|0.02	T|T	0.11842|0.11842	-1.0571|-1.0571	5|10	.|0.45353	.|T	.|0.12	.|.	13.1701|13.1701	0.59593|0.59593	0.0:0.1223:0.7504:0.1273|0.0:0.1223:0.7504:0.1273	.|.	.|221	.|P07237	.|PDIA1_HUMAN	Q|N	6;7|221;164;205	.|ENSP00000327801:T221N	.|ENSP00000327801:T221N	H|T	-|-	3|2	2|0	P4HB|P4HB	77398475|77398475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.417000|4.417000	0.59822|0.59822	1.433000|1.433000	0.47394|0.47394	0.650000|0.650000	0.86243|0.86243	CAC|ACC	P4HB	-	superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000185624		0.602	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HB	HGNC	protein_coding	OTTHUMT00000317250.3		0	80	0	G	NM_000918		79805186	-1			no_errors	ENST00000331483	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	79805186	G	T	79805186	3	4	40	1	0	0	0	0	1	0	0	0	11398	1261	44	3	892	3	P4HB	17	79805186	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	12587162	79805186	1390024	242	9899											
LPIN2	9663	genome.wustl.edu	37	chr18	2937789	2937789	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcagcatctaacatagAtgaaatctgagtactctcaa	14	11	8	8	0	4	3	2	2	3	1	5	3	4	3	0	1	3	2	0	1	5	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:2937789A>C	ENST00000261596.4	-	7	1307	c.1069T>G	c.(1069-1071)Tct>Gct	p.S357A		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	357					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TCTAACATAGATGAAATCTGA	0.527																																																	0													104	98	100					18																	2937789		2203	4300	6503	SO:0001583	missense	0			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1069T>G	18.37:g.2937789A>C	ENSP00000261596:p.Ser357Ala		A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.S357A	ENST00000261596.4	37	c.1069	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	A	1.553	-0.538751	0.04053	.	.	ENSG00000101577	ENST00000261596	T	0.80123	-1.34	5.53	3.14	0.36123	.	0.876663	0.10557	N	0.660687	T	0.65123	0.2661	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48559	-0.9025	10	0.09590	T	0.72	.	6.8088	0.23792	0.7701:0.1532:0.0766:0.0	.	357	Q92539	LPIN2_HUMAN	A	357	ENSP00000261596:S357A	ENSP00000261596:S357A	S	-	1	0	LPIN2	2927789	0.997000	0.39634	0.991000	0.47740	0.389000	0.30415	1.742000	0.38248	0.914000	0.36822	0.533000	0.62120	TCT	LPIN2	-	NULL	ENSG00000101577		0.527	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	-	0	39	0	A	NM_014646		2937789	-1	tier1	-	no_errors	ENST00000261596	ensembl	human	known	74_37	missense	39.34	37	24	SNP	0.105	C	C	2937789	A	C	2937789	3	2	40	1	0	0	0	0	1	0	0	0	8954	333	12	4	1677	4	LPIN2	18	2937789	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09		2937789	75139459	243	9900											
NPC1	4864	genome.wustl.edu	37	chr18	21140316	21140316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagggagcaggaggaggtgGgggctggggcttggggccac	6	4	23	8	0	0	0	0	0	0	0	0	3	0	3	2	10	1	3	2	10	0	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:21140316G>A	ENST00000269228.5	-	6	1314	c.760C>T	c.(760-762)Cca>Tca	p.P254S	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	254	Poly-Pro.				adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAGGAGGTGGGGGCTGGGGC	0.537																																																	0													65	58	61					18																	21140316		2203	4300	6503	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.760C>T	18.37:g.21140316G>A	ENSP00000269228:p.Pro254Ser		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.P254S	ENST00000269228.5	37	c.760	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334122	0.60853	.	.	ENSG00000141458	ENST00000269228;ENST00000540608	D	0.93547	-3.24	5.87	5.87	0.94306	.	0.050779	0.85682	D	0.000000	D	0.92548	0.7633	L	0.61036	1.89	0.80722	D	1	B;B	0.25486	0.065;0.127	B;B	0.22601	0.04;0.04	D	0.88960	0.3393	10	0.45353	T	0.12	-18.1511	20.206	0.98277	0.0:0.0:1.0:0.0	.	265;254	Q59GR1;O15118	.;NPC1_HUMAN	S	254;99	ENSP00000269228:P254S	ENSP00000269228:P254S	P	-	1	0	NPC1	19394314	1.000000	0.71417	0.997000	0.53966	0.414000	0.31173	9.869000	0.99810	2.785000	0.95823	0.655000	0.94253	CCA	NPC1	-	tigrfam_NP_C_type	ENSG00000141458		0.537	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	-	0	19	0	G	NM_000271		21140316	-1	tier1	-	no_errors	ENST00000269228	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A	A	21140316	G	A	21140316	3	1	40	1	0	0	0	0	1	0	0	0	10609	1232	43	3	3156	3	NPC1	18	21140316	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	18202527	21140316	56936932	244	9901											
TCEB3CL	100506888	genome.wustl.edu	37	chr18	44543316	44543316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccccttccacgtcgccGagggcgtccggattgttcct	4	9	13	15	5	0	0	0	0	0	0	4	3	3	2	6	3	0	1	6	3	0	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:44543316G>A	ENST00000591973.2	-	1	1291	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	352	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCACGTCGCCGAGGGCGTCCG	0.662																																																	0													22	21	21					18																	44543316		315	1113	1428	SO:0001819	synonymous_variant	0				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.1056C>T	18.37:g.44543316G>A				Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.L352	ENST00000591973.2	37	c.1056	CCDS59316.1	18																																																																																			TCEB3CL2	-	pfam_RNA_pol_II_trans_fac_SIII_A	ENSG00000266996		0.662	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	-	0	98	0	G	XM_929328		44543316	-1	tier1	-	no_errors	ENST00000591973	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.001	A	A	44543316	G	A	44543316	2	1	40	1	0	0	0	0	0	0	0	1	15731	1045	37	1		1	TCEB3CL	18	44543316	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	23403000	44543316	33533932	245	9902											
KIAA0427	9811	genome.wustl.edu	37	chr18	46287983	46287983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttcgccttcaccgctGccaagctctgcgacaagatg	8	8	10	15	3	2	1	1	0	1	1	3	2	2	1	3	0	4	4	3	0	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:46287983G>T	ENST00000256413.3	+	9	1589	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	CTIF_ENST00000382998.4_Missense_Mutation_p.A434S	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	432	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTTCACCGCTGCCAAGCTCTG	0.617																																																	0													100	86	91					18																	46287983		2203	4300	6503	SO:0001583	missense	0			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"KIAA0427"	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1294G>T	18.37:g.46287983G>T	ENSP00000256413:p.Ala432Ser		B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.A434S	ENST00000256413.3	37	c.1300	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998573	0.93227	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.40225	1.04;1.04	5.51	5.51	0.81932	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.051675	0.85682	D	0.000000	T	0.58609	0.2134	M	0.66939	2.045	0.80722	D	1	D;D	0.57899	0.981;0.966	P;P	0.55303	0.763;0.773	T	0.59568	-0.7430	10	0.52906	T	0.07	-33.9557	19.0419	0.93004	0.0:0.0:1.0:0.0	.	434;432	O43310-2;O43310	.;CTIF_HUMAN	S	432;434;384	ENSP00000256413:A432S;ENSP00000372459:A434S	ENSP00000256413:A432S	A	+	1	0	CTIF	44541981	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	9.476000	0.97823	2.600000	0.87896	0.655000	0.94253	GCC	CTIF	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000134030		0.617	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	-	0	48	0	G	NM_014772		46287983	1	tier1	-	no_errors	ENST00000382998	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	46287983	G	T	46287983	3	4	40	1	0	0	0	0	1	0	0	0	8203	1319	46	3	1330	3	KIAA0427	18	46287983	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	1744667	46287983	31789265	246	9903											
NEDD4L	23327	genome.wustl.edu	37	chr18	56063468	56063468	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacttctcatggccgtGgaaaatgctcaaggatttga	13	10	11	7	1	2	2	2	1	1	1	3	5	2	4	1	3	2	1	1	3	4	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:56063468G>T	ENST00000400345.3	+	31	3178	c.2895G>T	c.(2893-2895)gtG>gtT	p.V965V	RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000589054.1_Silent_p.V96V|NEDD4L_ENST00000435432.2_Silent_p.V824V|NEDD4L_ENST00000256830.9_Silent_p.V861V|NEDD4L_ENST00000456986.1_Silent_p.V844V|NEDD4L_ENST00000382850.4_Silent_p.V945V|NEDD4L_ENST00000456173.2_Silent_p.V824V|NEDD4L_ENST00000431212.2_Silent_p.V844V|NEDD4L_ENST00000356462.6_Silent_p.V901V|NEDD4L_ENST00000256832.7_Silent_p.V825V|NEDD4L_ENST00000586263.1_Silent_p.V937V|NEDD4L_ENST00000357895.5_Silent_p.V957V	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	965	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCATGGCCGTGGAAAATGCTC	0.438																																																	0													92	78	83					18																	56063468		1868	4114	5982	SO:0001819	synonymous_variant	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2895G>T	18.37:g.56063468G>T			O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.V965	ENST00000400345.3	37	c.2895	CCDS45872.1	18																																																																																			NEDD4L	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000049759		0.438	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	-	0	27	0	G			56063468	1	tier1	-	no_errors	ENST00000400345	ensembl	human	known	74_37	silent	7.14	65	5	SNP	1.000	T	T	56063468	G	T	56063468	2	4	40	1	0	0	0	0	0	0	0	1	10350	1335	47	3		3	NEDD4L	18	56063468	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	9775485	56063468	22013780	247	9904											
ALPK2	115701	genome.wustl.edu	37	chr18	56184191	56184191	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcatcattatttctggtCccataggcaatggcattgtg	9	14	9	9	0	3	0	2	0	1	0	4	0	4	0	1	3	1	3	1	3	3	4	rs201587462		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:56184191C>A	ENST00000361673.3	-	9	6102	c.5889G>T	c.(5887-5889)ggG>ggT	p.G1963G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1963	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TATTTCTGGTCCCATAGGCAA	0.537																																																	0													193	172	179					18																	56184191		2203	4300	6503	SO:0001819	synonymous_variant	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5889G>T	18.37:g.56184191C>A			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.G1963	ENST00000361673.3	37	c.5889	CCDS11966.2	18																																																																																			ALPK2	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000198796		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1		0	57	0	C	NM_052947		56184191	-1			no_errors	ENST00000361673	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	A	A	56184191	C	A	56184191	2	1	40	1	0	0	0	0	0	0	0	1	545	842	30	3		3	ALPK2	18	56184191	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	120723	56184191	21893057	248	9905											
GRP	2922	genome.wustl.edu	37	chr18	56892729	56892729	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgtttttacagggcacTtaatggggaaaaagagcaca	13	13	10	5	0	0	1	0	0	0	1	0	2	0	2	0	3	2	3	0	3	4	6			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:56892729T>G	ENST00000256857.2	+	2	243	c.145T>G	c.(145-147)Tta>Gta	p.L49V	GRP_ENST00000529320.2_Missense_Mutation_p.L49V|GRP_ENST00000420468.2_Missense_Mutation_p.L49V	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	49					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.L49V(1)		large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TACAGGGCACTTAATGGGGAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											71	76	74					18																	56892729		2203	4300	6503	SO:0001583	missense	0				CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"Endogenous ligands"	4605	protein-coding gene	gene with protein product	"bombesin", "neuromedin C", "prepro-GRP"	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.145T>G	18.37:g.56892729T>G	ENSP00000256857:p.Leu49Val		P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	pfam_Bombesin	p.L49V	ENST00000256857.2	37	c.145	CCDS11971.1	18	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464654	0.63513	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.49139	0.79;0.83;0.81	5.34	0.293	0.15742	.	0.000000	0.47852	D	0.000219	T	0.61540	0.2355	M	0.75264	2.295	0.34874	D	0.743858	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.963;0.978;0.963	T	0.67945	-0.5539	10	0.87932	D	0	-5.9503	7.9022	0.29742	0.0:0.36:0.0:0.64	.	49;49;49	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	V	49	ENSP00000256857:L49V;ENSP00000434101:L49V;ENSP00000389696:L49V	ENSP00000256857:L49V	L	+	1	2	GRP	55043709	0.891000	0.30450	0.945000	0.38365	0.954000	0.61252	0.057000	0.14279	0.039000	0.15632	0.533000	0.62120	TTA	GRP	-	pfam_Bombesin	ENSG00000134443		0.398	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	HGNC	protein_coding	OTTHUMT00000256131.2	-	0	24	0	T	NM_002091		56892729	1	tier1	-	no_errors	ENST00000256857	ensembl	human	known	74_37	missense	68.18	14	30	SNP	0.883	G	G	56892729	T	G	56892729	3	3	40	1	0	0	0	0	1	0	0	0	6832	1606	56	4	151	4	GRP	18	56892729	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	708538	56892729	21184519	249	9906											
TNFRSF11A	8792	genome.wustl.edu	37	chr18	60035976	60035976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtacacacacggcaaacTttggtcagcagggagcatgt	12	8	11	10	1	2	0	2	0	0	0	2	1	2	1	0	3	4	4	0	3	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr18:60035976T>C	ENST00000586569.1	+	9	864	c.826T>C	c.(826-828)Ttt>Ctt	p.F276L	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	276					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CACGGCAAACTTTGGTCAGCA	0.468																																																	0													82	75	78					18																	60035976		2203	4300	6503	SO:0001583	missense	0			AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"Tumor necrosis factor receptor superfamily", "CD molecules"	11908	protein-coding gene	gene with protein product		603499	"tumor necrosis factor receptor superfamily, member 11a, activator of NFKB", "Paget disease of bone 2", "loss of heterozygosity, 18, chromosomal region 1"	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.826T>C	18.37:g.60035976T>C	ENSP00000465500:p.Phe276Leu		I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11	p.F276L	ENST00000586569.1	37	c.826	CCDS11980.1	18	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337546	0.41398	.	.	ENSG00000141655	ENST00000269485	.	.	.	5.21	-4.04	0.04010	.	1.850620	0.02429	N	0.083336	T	0.24122	0.0584	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.11329	0.006	T	0.06643	-1.0815	8	.	.	.	-1.2242	2.4144	0.04432	0.1203:0.2351:0.4099:0.2348	.	276	Q9Y6Q6	TNR11_HUMAN	L	276	.	.	F	+	1	0	TNFRSF11A	58186956	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.664000	0.05292	-0.465000	0.06953	0.455000	0.32223	TTT	TNFRSF11A	-	NULL	ENSG00000141655		0.468	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF11A	HGNC	protein_coding	OTTHUMT00000256186.2	-	0	19	0	T			60035976	1	tier1	-	no_errors	ENST00000586569	ensembl	human	known	74_37	missense	19.05	16	4	SNP	0.000	C	C	60035976	T	C	60035976	3	2	40	1	0	0	0	0	1	0	0	0	16331	1609	56	4	860	4	TNFRSF11A	18	60035976	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	3143247	60035976	18041272	250	9907											
ABCA7	10347	genome.wustl.edu	37	chr19	1061782	1061782	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgggcatccctgtagtGttttgggctgctgggtgtga	3	15	16	7	0	1	1	0	1	1	0	2	1	2	1	1	3	1	5	1	3	1	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:1061782G>T	ENST00000263094.6	+	41	5696	c.5465G>T	c.(5464-5466)tGt>tTt	p.C1822F	ABCA7_ENST00000435683.2_Splice_Site_p.C1684F|ABCA7_ENST00000433129.1_Splice_Site_p.C1822F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1822	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCTGTAGTGTTTTGGGCTG	0.557																																																	0													105	88	94					19																	1061782		2203	4300	6503	SO:0001630	splice_region_variant	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5464-1G>T	19.37:g.1061782G>T			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.C1822F	ENST00000263094.6	37	c.5465	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789812	0.50102	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.95918	-3.85;-3.85	3.57	3.57	0.40892	ATPase, AAA+ type, core (1);ABC transporter-like (1);	.	.	.	.	D	0.96100	0.8729	L	0.43701	1.375	0.54753	D	0.999988	D;D	0.89917	1.0;0.993	D;P	0.73380	0.98;0.873	D	0.96454	0.9336	9	0.87932	D	0	.	13.8636	0.63574	0.0:0.0:1.0:0.0	.	947;1822	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	F	1822	ENSP00000263094:C1822F;ENSP00000414062:C1822F	ENSP00000263094:C1822F	C	+	2	0	ABCA7	1012782	1.000000	0.71417	0.999000	0.59377	0.245000	0.25701	9.194000	0.94962	1.809000	0.52856	0.561000	0.74099	TGT	ABCA7	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000064687		0.557	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	-	0	95	0	G	NM_019112	Missense_Mutation	1061782	1	tier1	-	no_errors	ENST00000263094	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	1061782	G	T	1061782	5	4	40	1	0	0	0	0	0	0	1	0	37	1391	48	3	5623	3	ABCA7	19	1061782	Splice_Site	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		1061782	58067201	251	9908											
MBD3	53615	genome.wustl.edu	37	chr19	1578360	1578360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagacgtgctccatctccggGtccgggtcgggctcctcctc	3	10	12	16	4	1	1	0	0	1	1	8	1	5	1	5	3	1	2	5	3	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:1578360G>T	ENST00000434436.3	-	6	984	c.855C>A	c.(853-855)gaC>gaA	p.D285E	MBD3_ENST00000590550.2_Missense_Mutation_p.D229E|MBD3_ENST00000156825.1_Missense_Mutation_p.D285E|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000592012.1_Missense_Mutation_p.D253E|AC005943.5_ENST00000588960.1_lincRNA|UQCR11_ENST00000585937.1_3'UTR	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	285					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATCTCCGGGTCCGGGTCGG	0.697																																																	0													22	24	24					19																	1578360		2201	4297	6498	SO:0001583	missense	0			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.855C>A	19.37:g.1578360G>T	ENSP00000412302:p.Asp285Glu		A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Missense_Mutation	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.D285E	ENST00000434436.3	37	c.855	CCDS12072.1	19	.	.	.	.	.	.	.	.	.	.	G	13.24	2.179494	0.38511	.	.	ENSG00000071655	ENST00000434436;ENST00000156825	D	0.98512	-4.97	4.1	1.93	0.25924	.	2.099360	0.02401	N	0.080689	D	0.94295	0.8167	N	0.14661	0.345	0.23010	N	0.998437	B;B	0.31817	0.341;0.231	B;B	0.24848	0.056;0.05	D	0.90751	0.4657	10	0.87932	D	0	-16.8386	6.2602	0.20895	0.2172:0.0:0.7828:0.0	.	253;285	O95983-2;O95983	.;MBD3_HUMAN	E	253;285	ENSP00000156825:D285E	ENSP00000156825:D285E	D	-	3	2	MBD3	1529360	1.000000	0.71417	0.752000	0.31206	0.168000	0.22595	2.159000	0.42339	1.829000	0.53265	0.313000	0.20887	GAC	MBD3	-	NULL	ENSG00000071655		0.697	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	-	0	53	0	G	NM_003926		1578360	-1	tier1	-	no_errors	ENST00000156825	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.848	T	T	1578360	G	T	1578360	3	4	40	1	0	0	0	0	1	0	0	0	9382	1252	44	3	24	3	MBD3	19	1578360	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	516578	1578360	57550623	252	9909											
LONP1	25873	genome.wustl.edu	37	chr19	5693716	5693716	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaggctgccatccttGtcacccttggcatccttgtc	5	12	7	17	0	1	0	1	0	0	0	5	0	4	0	6	2	1	2	6	2	0	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:5693716G>T	ENST00000577222.1	+	0	874				LONP1_ENST00000540670.2_Missense_Mutation_p.D599E|LONP1_ENST00000590729.1_Missense_Mutation_p.D665E|LONP1_ENST00000593119.1_Missense_Mutation_p.D731E|LONP1_ENST00000360614.3_Missense_Mutation_p.D795E|LONP1_ENST00000585374.1_Missense_Mutation_p.D681E			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						TGCCATCCTTGTCACCCTTGG	0.612																																																	0													123	90	101					19																	5693716		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693716G>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.D795E	ENST00000577222.1	37	c.2385	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	G	7.918	0.737932	0.15574	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.20598	2.38;2.06	4.35	2.1	0.27182	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.443807	0.20576	N	0.089630	T	0.08492	0.0211	N	0.12611	0.24	0.33669	D	0.61072	B;B;B	0.17465	0.0;0.022;0.001	B;B;B	0.29440	0.003;0.102;0.002	T	0.35201	-0.9798	10	0.05351	T	0.99	-37.7455	3.0653	0.06212	0.0994:0.1796:0.5356:0.1855	.	795;731;795	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	E	795;759;599	ENSP00000353826:D795E;ENSP00000441523:D599E	ENSP00000351177:D759E	D	-	3	2	LONP1	5644716	.	.	0.983000	0.44433	0.431000	0.31685	.	.	0.241000	0.21283	-0.268000	0.10319	GAC	LONP1	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ	ENSG00000196365		0.612	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	-	0	38	0	G	NM_015414		5693716	-1	tier1	-	no_errors	ENST00000360614	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.993	T	T	5693716	G	T	5693716	1	4	40	0	1	0	0	0	0	0	0	0	8927	1368	48	3		3	LONP1	19	5693716	IGR	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	4115356	5693716	53435267	253	9910											
FBN3	84467	genome.wustl.edu	37	chr19	8210812	8210812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattcatacagctcacactGcaccctgaccctggggacag	10	7	8	16	0	2	1	2	1	0	0	2	2	2	2	3	2	3	2	3	2	1	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:8210812G>A	ENST00000600128.1	-	5	774	c.360C>T	c.(358-360)tgC>tgT	p.C120C	FBN3_ENST00000270509.2_Silent_p.C120C|FBN3_ENST00000601739.1_Silent_p.C120C			Q75N90	FBN3_HUMAN	fibrillin 3	120						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTCACACTGCACCCTGACC	0.622																																																	0													38	30	33					19																	8210812		2033	3949	5982	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.360C>T	19.37:g.8210812G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C120	ENST00000600128.1	37	c.360	CCDS12196.1	19																																																																																			FBN3	-	smart_EG-like_dom,pirsf_FBN	ENSG00000142449		0.622	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	35	0	G	NM_032447		8210812	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	A	A	8210812	G	A	8210812	2	1	40	1	0	0	0	0	0	0	0	1	5726	1311	46	3		3	FBN3	19	8210812	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2517096	8210812	50918171	254	9911											
MAST1	22983	genome.wustl.edu	37	chr19	12976154	12976154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaccccagagtacatcGcgcccgaggtcatcctgcgt	7	7	13	14	4	1	1	1	0	0	1	3	3	2	2	4	2	2	1	4	2	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:12976154G>A	ENST00000251472.4	+	15	1702	c.1663G>A	c.(1663-1665)Gcg>Acg	p.A555T		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAGTACATCGCGCCCGAGGT	0.657																																																	0													66	63	64					19																	12976154		2203	4300	6503	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1663G>A	19.37:g.12976154G>A	ENSP00000251472:p.Ala555Thr			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.A555T	ENST00000251472.4	37	c.1663	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.216863	0.95104	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.53423	0.62	4.81	4.81	0.61882	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060918	0.64402	D	0.000005	T	0.78451	0.4285	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85786	0.1364	10	0.87932	D	0	-14.4835	15.746	0.77944	0.0:0.0:1.0:0.0	.	555	Q9Y2H9	MAST1_HUMAN	T	555	ENSP00000251472:A555T	ENSP00000251472:A555T	A	+	1	0	MAST1	12837154	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.828000	0.99408	2.408000	0.81797	0.655000	0.94253	GCG	MAST1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105613		0.657	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	-	0	58	0	G	NM_014975		12976154	1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	79.49	8	31	SNP	1.000	A	A	12976154	G	A	12976154	3	1	40	1	0	0	0	0	1	0	0	0	9362	1087	38	1	1721	1	MAST1	19	12976154	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	4765342	12976154	46152829	255	9912											
EMR3	84658	genome.wustl.edu	37	chr19	14762000	14762000	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcaattgtctgtaatCgcttgagtttcaatagctgg	10	14	10	7	1	3	2	2	1	1	1	4	2	3	2	0	1	2	5	0	1	4	5	rs112595913	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:14762000C>A	ENST00000253673.5	-	7	694	c.594G>T	c.(592-594)gcG>gcT	p.A198A	EMR3_ENST00000443157.2_Silent_p.A72A|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.A146A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	198					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A198A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGTCTGTAATCGCTTGAGTTT	0.408																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											192	161	171					19																	14762000		2203	4300	6503	SO:0001819	synonymous_variant	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.594G>T	19.37:g.14762000C>A				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.A198	ENST00000253673.5	37	c.594	CCDS12315.1	19																																																																																			EMR3	-	NULL	ENSG00000131355		0.408	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1		0	22	0	C	NM_032571		14762000	-1			no_errors	ENST00000253673	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.366	A	A	14762000	C	A	14762000	2	1	40	1	0	0	0	0	0	0	0	1	5122	871	31	2		2	EMR3	19	14762000	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1785846	14762000	44366983	256	9913											
ZNF257	113835	genome.wustl.edu	37	chr19	22270892	22270892	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatgagaatttacaattaAgaaagggctgtaaaagtgtg	18	10	10	3	0	0	2	0	1	0	2	0	3	0	2	0	1	2	2	0	1	8	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:22270892A>C	ENST00000594947.1	+	4	484	c.340A>C	c.(340-342)Aga>Cga	p.R114R	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTACAATTAAGAAAGGGCTG	0.358																																																	0													76	82	80					19																	22270892		2162	4273	6435	SO:0001819	synonymous_variant	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.340A>C	19.37:g.22270892A>C			B3KPS4|E9PG34|Q8NE34	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R114	ENST00000594947.1	37	c.340	CCDS46030.1	19																																																																																			ZNF257	-	NULL	ENSG00000197134		0.358	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	62	0	A			22270892	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	silent	82.19	12	60	SNP	0.005	C	C	22270892	A	C	22270892	2	2	40	1	0	0	0	0	0	0	0	1	17848	64	3	4		4	ZNF257	19	22270892	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	7508892	22270892	36858091	257	9914											
ZNF676	163223	genome.wustl.edu	37	chr19	22363727	22363727	+	Missense_Mutation	SNP	G	G	T																															tgtgtattaagggttgagacGctactaaatcctttgccaca																								rs375422919		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:22363727G>T	ENST00000397121.2	-	3	1109	c.792C>A	c.(790-792)agC>agA	p.S264R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTGAGACGCTACTAAATC	0.398																																																	0													94	100	98					19																	22363727		2158	4273	6431	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.792C>A	19.37:g.22363727G>T	ENSP00000380310:p.Ser264Arg		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S264R	ENST00000397121.2	37	c.792	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-5.137384	0.00000	.	.	ENSG00000196109	ENST00000397121	T	0.18657	2.2	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10121	0.0248	N	0.20530	0.585	0.09310	N	1	B	0.30236	0.274	B	0.33042	0.157	T	0.26780	-1.0093	9	0.16420	T	0.52	.	1.5496	0.02572	0.1694:0.3244:0.34:0.1662	.	264	Q8N7Q3	ZN676_HUMAN	R	264	ENSP00000380310:S264R	ENSP00000380310:S264R	S	-	3	2	ZNF676	22155567	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.700000	0.00389	-2.883000	0.00318	-2.850000	0.00103	AGC	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1		0	29	0	G	NM_001001411		22363727	-1			no_errors	ENST00000397121	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	T	T	22363727	G	T	22363727	3	4	40	1	0	0	0	0	1	0	0	0	18131	1078	38	2	978	2	ZNF676	19	22363727	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	92835	22363727	36765256	258	9915	37	2									
ZNF676	163223	genome.wustl.edu	37	chr19	22363736	22363737	+	Missense_Mutation	DNP	TC	TC	AG																															agggttgagacgctactaaaTcctttgccacattcttcaca																								rs559970266|rs572031376	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:22363736_22363737TC>AG	ENST00000397121.2	-	3	1099_1100	c.782_783GA>CT	c.(781-783)gGA>gCT	p.G261A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CGCTACTAAATCCTTTGCCACA	0.391																																																	0																																										SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.782_783delinsAG	19.37:g.22363736_22363737delinsAG	ENSP00000380310:p.Gly261Ala		A8MVX5	Silent|Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G261|p.G261A	ENST00000397121.2	37	c.783|c.782	CCDS42539.1	19																																																																																			ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.391	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	28	0	T|C	NM_001001411		22363736|22363737	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	silent|missense	13.16	33	5	SNP	0.028|0.018	A|G	AG	22363737	TC	AG	22363736	3	1	40	1	0	0	0	0	1	0	0	0	18131	1422	50	5	987	5	ZNF676	19	22363736	Missense_Mutation	DNP	TC	TCGA-JY-A6FH-01A-11D-A33E-09	9	22363736	36765247	259	9916	37	2									
ZNF536	9745	genome.wustl.edu	37	chr19	30935745	30935745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaggcccacgccaacCtgtactccaggtacctctcc	8	6	8	19	1	1	0	0	0	1	0	3	1	2	1	7	3	3	2	7	3	3	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:30935745C>A	ENST00000355537.3	+	2	1423	c.1276C>A	c.(1276-1278)Ctg>Atg	p.L426M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	426					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCACGCCAACCTGTACTCCAG	0.647																																																	0													34	36	35					19																	30935745		2203	4298	6501	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1276C>A	19.37:g.30935745C>A	ENSP00000347730:p.Leu426Met		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L426M	ENST00000355537.3	37	c.1276	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	8.006	0.756524	0.15846	.	.	ENSG00000198597	ENST00000355537	T	0.10960	2.82	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	L	0.32530	0.975	0.40151	D	0.97694	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.00839	-1.1545	10	0.66056	D	0.02	-19.2934	9.5782	0.39470	0.0:0.8376:0.0:0.1624	.	426;426	A7E228;O15090	.;ZN536_HUMAN	M	426	ENSP00000347730:L426M	ENSP00000347730:L426M	L	+	1	2	ZNF536	35627585	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	2.033000	0.41136	2.535000	0.85469	0.591000	0.81541	CTG	ZNF536	-	NULL	ENSG00000198597		0.647	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	51	0	C	NM_014717		30935745	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	30935745	C	A	30935745	3	1	40	1	0	0	0	0	1	0	0	0	18022	680	24	3	1278	3	ZNF536	19	30935745	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	8572009	30935745	28193238	260	9917											
FFAR2	2867	genome.wustl.edu	37	chr19	35941156	35941156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacgtggtgctgcccgtgcgGctggagctgtgcctggtgct	2	10	18	11	3	0	0	0	0	0	0	0	2	0	1	2	4	6	4	2	4	0	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:35941156G>A	ENST00000599180.2	+	2	620	c.540G>A	c.(538-540)cgG>cgA	p.R180R	FFAR2_ENST00000246549.2_Silent_p.R180R|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	180					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGCCCGTGCGGCTGGAGCTGT	0.542																																					GBM(40;139 809 9833 23358 48736)												0													112	84	93					19																	35941156		2203	4300	6503	SO:0001819	synonymous_variant	0			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"GPCR / Class A : Fatty acid receptors"	4501	protein-coding gene	gene with protein product		603823	"G protein-coupled receptor 43"	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.540G>A	19.37:g.35941156G>A			B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.R180	ENST00000599180.2	37	c.540	CCDS12461.1	19																																																																																			FFAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000126262		0.542	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR2	HGNC	protein_coding	OTTHUMT00000466120.3	-	0	70	0	G	NM_005306		35941156	1	tier1	-	no_errors	ENST00000246549	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.735	A	A	35941156	G	A	35941156	2	1	40	1	0	0	0	0	0	0	0	1	5850	1190	42	3		3	FFAR2	19	35941156	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5005411	35941156	23187827	261	9918											
FAM98C	147965	genome.wustl.edu	37	chr19	38894313	38894313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcgcttcgggaacccGgtgccggactgcgcctgctg	3	7	16	15	6	0	0	0	0	0	0	1	2	0	2	3	4	5	3	3	4	1	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:38894313G>A	ENST00000252530.5	+	3	347	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	FAM98C_ENST00000343358.7_Missense_Mutation_p.G110S|FAM98C_ENST00000588262.1_Missense_Mutation_p.G110S|FAM98C_ENST00000585954.1_3'UTR	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	110										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCGGGAACCCGGTGCCGGACT	0.692																																																	0													3	4	4					19																	38894313		1610	3569	5179	SO:0001583	missense	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.328G>A	19.37:g.38894313G>A	ENSP00000252530:p.Gly110Ser		A6NMW3|Q66K45	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.G110S	ENST00000252530.5	37	c.328	CCDS42562.1	19	.	.	.	.	.	.	.	.	.	.	g	4.567	0.105393	0.08731	.	.	ENSG00000130244	ENST00000252530;ENST00000343358	T;T	0.39787	1.06;1.06	3.77	1.6	0.23607	.	0.579483	0.14250	N	0.331520	T	0.24547	0.0595	L	0.35487	1.065	0.09310	N	1	B;B;B	0.32350	0.113;0.366;0.054	B;B;B	0.27608	0.029;0.081;0.013	T	0.17592	-1.0364	10	0.10902	T	0.67	-34.5886	7.6298	0.28232	0.217:0.0:0.783:0.0	.	110;110;110	B7ZLI5;Q17RN3-2;Q17RN3	.;.;FA98C_HUMAN	S	110	ENSP00000252530:G110S;ENSP00000340348:G110S	ENSP00000252530:G110S	G	+	1	0	FAM98C	43586153	0.036000	0.19791	0.002000	0.10522	0.005000	0.04900	1.489000	0.35562	0.289000	0.22422	0.450000	0.29827	GGT	FAM98C	-	pfam_Uncharacterised_FAM98	ENSG00000130244		0.692	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1		0	21	0	G	NM_174905		38894313	1			no_errors	ENST00000252530	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.002	A	A	38894313	G	A	38894313	3	1	40	1	0	0	0	0	1	0	0	0	5680	1116	39	1	338	1	FAM98C	19	38894313	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2953157	38894313	20234670	262	9919											
SAMD4B	55095	genome.wustl.edu	37	chr19	39860549	39860549	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctctggctgagccacctgGaagagcggttggctagtggc	6	8	15	12	1	1	2	0	1	1	1	1	3	1	3	3	5	2	3	3	5	2	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:39860549G>T	ENST00000314471.6	+	6	1486	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	SAMD4B_ENST00000596368.1_Nonsense_Mutation_p.E151*|SAMD4B_ENST00000598913.1_Nonsense_Mutation_p.E151*|RN7SL566P_ENST00000467650.2_RNA	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GAGCCACCTGGAAGAGCGGTT	0.637																																																	0													40	32	34					19																	39860549		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.451G>T	19.37:g.39860549G>T	ENSP00000317224:p.Glu151*		A5Z0M6|Q6P194	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.E151*	ENST00000314471.6	37	c.451	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	G	46	12.771826	0.99695	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.52	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	13.4493	0.61161	0.0:0.0:0.8418:0.1582	.	.	.	.	X	151	.	ENSP00000317224:E151X	E	+	1	0	SAMD4B	44552389	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.831000	0.99420	1.313000	0.45069	-0.181000	0.13052	GAA	SAMD4B	-	NULL	ENSG00000179134		0.637	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1		0	57	0	G	NM_018028		39860549	1			no_errors	ENST00000314471	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	T	T	39860549	G	T	39860549	4	4	40	1	0	0	0	0	0	1	0	0	13867	1175	41	3	457	3	SAMD4B	19	39860549	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	966236	39860549	19268434	263	9920											
TMEM145	284339	genome.wustl.edu	37	chr19	42821921	42821921	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggctacgggctcattGgactgcaggtggcggcctac	5	7	16	13	4	1	0	1	0	0	0	1	1	1	1	2	7	3	3	2	7	2	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:42821921G>T	ENST00000301204.3	+	12	1002	c.961G>T	c.(961-963)Gga>Tga	p.G321*	TMEM145_ENST00000598766.1_Nonsense_Mutation_p.G345*	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	321					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CGGGCTCATTGGACTGCAGGT	0.577																																																	0													150	117	128					19																	42821921		2203	4300	6503	SO:0001587	stop_gained	0			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.961G>T	19.37:g.42821921G>T	ENSP00000301204:p.Gly321*			Nonsense_Mutation	SNP	pfam_Intimal_thickness-rel_rcpt	p.G321*	ENST00000301204.3	37	c.961	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.213653	0.97380	.	.	ENSG00000167619	ENST00000301204	.	.	.	4.45	4.45	0.53987	.	0.150496	0.41500	D	0.000867	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-21.267	14.9514	0.71077	0.0:0.0:1.0:0.0	.	.	.	.	X	321	.	ENSP00000301204:G321X	G	+	1	0	TMEM145	47513761	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.079000	0.71291	2.198000	0.70561	0.591000	0.81541	GGA	TMEM145	-	pfam_Intimal_thickness-rel_rcpt	ENSG00000167619		0.577	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1		0	65	0	G	NM_173633		42821921	1			no_errors	ENST00000301204	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T	T	42821921	G	T	42821921	4	4	40	1	0	0	0	0	0	1	0	0	16106	1349	47	3	1007	3	TMEM145	19	42821921	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2961372	42821921	16307062	264	9921											
RSPH6A	81492	genome.wustl.edu	37	chr19	46307822	46307822	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcgggcgttcacgatctgGgctggagtgacgtggggcag	5	10	18	8	4	2	1	1	1	1	0	3	3	2	2	0	5	0	3	0	5	0	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:46307822G>T	ENST00000221538.3	-	3	1483	c.1341C>A	c.(1339-1341)gcC>gcA	p.A447A	RSPH6A_ENST00000597055.1_Silent_p.A447A|RSPH6A_ENST00000600188.1_Silent_p.A183A	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	447						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCACGATCTGGGCTGGAGTGA	0.617																																																	0													95	72	80					19																	46307822		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"radial spokehead-like 1"	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1341C>A	19.37:g.46307822G>T			Q53FE2|Q6PEZ9	Silent	SNP	pfam_Radial_spoke	p.A447	ENST00000221538.3	37	c.1341	CCDS12675.1	19																																																																																			RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.617	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	-	0	77	0	G			46307822	-1	tier1	-	no_errors	ENST00000221538	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.038	T	T	46307822	G	T	46307822	2	4	40	1	0	0	0	0	0	0	0	1	13752	1219	43	3		3	RSPH6A	19	46307822	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	3485901	46307822	12821161	265	9922											
NTN5	126147	genome.wustl.edu	37	chr19	49174223	49174223	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctggcccaggaggagcagGagggcaaaggtcacgggcat	10	3	18	10	1	1	0	1	0	0	0	1	3	1	3	2	7	1	3	2	7	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:49174223G>T	ENST00000270235.4	-	2	116	c.21C>A	c.(19-21)ctC>ctA	p.L7L	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	7						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						GGAGGAGCAGGAGGGCAAAGG	0.677																																																	0													10	11	11					19																	49174223		2163	4222	6385	SO:0001819	synonymous_variant	0				CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"Netrins"	25208	protein-coding gene	gene with protein product	"Netrin-5"					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.21C>A	19.37:g.49174223G>T			Q8N4X9|Q8WU63	Silent	SNP	pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Netrin_domain	p.L7	ENST00000270235.4	37	c.21	CCDS33068.1	19																																																																																			NTN5	-	NULL	ENSG00000142233		0.677	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN5	HGNC	protein_coding	OTTHUMT00000466176.1		0	63	0	G	NM_145807		49174223	-1			no_errors	ENST00000270235	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.990	T	T	49174223	G	T	49174223	2	4	40	1	0	0	0	0	0	0	0	1	10742	1161	41	3		3	NTN5	19	49174223	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2866401	49174223	9954760	266	9923											
KLK5	25818	genome.wustl.edu	37	chr19	51446942	51446942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaacttgcagaggttcGtgtagacacccggtctgttg	7	12	14	8	2	1	3	0	1	1	2	2	3	1	3	1	3	2	4	1	3	2	4	rs568810143	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:51446942G>A	ENST00000336334.3	-	6	1179	c.827C>T	c.(826-828)aCg>aTg	p.T276M	KLK5_ENST00000593428.1_Missense_Mutation_p.T276M|KLK5_ENST00000391809.2_Missense_Mutation_p.T276M	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	276	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.T276M(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GCAGAGGTTCGTGTAGACACC	0.612													G|||	2	0.000399361	0.0015	0	5008	,	,		16085	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)											155	133	140					19																	51446942		2203	4300	6503	SO:0001583	missense	0			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"Kallikreins"	6366	protein-coding gene	gene with protein product		605643	"kallikrein 5"			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.827C>T	19.37:g.51446942G>A	ENSP00000337733:p.Thr276Met		Q53ZR3|Q9HBG8	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T276M	ENST00000336334.3	37	c.827	CCDS12810.1	19	.	.	.	.	.	.	.	.	.	.	g	16.13	3.037042	0.54896	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.95205	-3.64;-3.64	3.92	3.92	0.45320	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.32753	U	0.005692	D	0.97626	0.9222	M	0.92122	3.275	0.45621	D	0.998555	D	0.89917	1.0	D	0.97110	1.0	D	0.98389	1.0562	10	0.87932	D	0	.	13.4587	0.61214	0.0:0.0:1.0:0.0	.	276	Q9Y337	KLK5_HUMAN	M	276	ENSP00000337733:T276M;ENSP00000375685:T276M	ENSP00000337733:T276M	T	-	2	0	KLK5	56138754	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	5.725000	0.68507	2.010000	0.58986	0.549000	0.68633	ACG	KLK5	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167754		0.612	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1		0	57	0	G	NM_012427		51446942	-1			no_errors	ENST00000336334	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	A	A	51446942	G	A	51446942	3	1	40	1	0	0	0	0	1	0	0	0	8434	1145	40	1	58	1	KLK5	19	51446942	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	2272719	51446942	7682041	267	9924											
CEACAM18	729767	genome.wustl.edu	37	chr19	51986386	51986386	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctattccttcctggatctCaagtaccactggatccacaa	10	12	6	13	0	1	0	1	0	1	0	5	2	4	2	4	2	2	2	4	2	4	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:51986386C>G	ENST00000396477.4	+	4	810	c.789C>G	c.(787-789)ctC>ctG	p.L263L	CEACAM18_ENST00000451626.1_Silent_p.L324L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	263	Ig-like C2-type.									breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCTGGATCTCAAGTACCACT	0.512																																																	0													185	181	182					19																	51986386		2020	4183	6203	SO:0001819	synonymous_variant	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.789C>G	19.37:g.51986386C>G			C9JN24	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L324	ENST00000396477.4	37	c.972		19																																																																																			CEACAM18	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000213822		0.512	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0	68	0	C			51986386	1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	silent	92.59	4	50	SNP	0.000	G	G	51986386	C	G	51986386	2	3	40	1	0	0	0	0	0	0	0	1	3196	813	29	5		5	CEACAM18	19	51986386	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	539444	51986386	7142597	268	9925											
MZF1	7593	genome.wustl.edu	37	chr19	59073508	59073508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcggcggccacagtcCtggcaggcgaagggcttctc	7	6	16	12	3	1	0	0	0	1	0	3	2	2	1	2	6	1	2	2	6	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr19:59073508C>T	ENST00000215057.2	-	6	2696	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Silent_p.Q712Q|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	712					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GGCCACAGTCCTGGCAGGCGA	0.682																																																	0													30	29	29					19																	59073508		2195	4295	6490	SO:0001819	synonymous_variant	0			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"-", "Zinc fingers, C2H2-type"	13108	protein-coding gene	gene with protein product		194550	"zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2136G>A	19.37:g.59073508C>T			M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q712	ENST00000215057.2	37	c.2136	CCDS12988.1	19																																																																																			MZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000099326		0.682	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	-	0	73	0	C	NM_198055		59073508	-1	tier1	-	no_errors	ENST00000215057	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.998	T	T	59073508	C	T	59073508	2	4	40	1	0	0	0	0	0	0	0	1	10146	680	24	3		3	MZF1	19	59073508	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	7087122	59073508	55475	269	9926											
RNF24	11237	genome.wustl.edu	37	chr20	3944539	3944539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctaatcaagtagcaacaGaagagtaaactaaggatgaa	20	7	8	6	0	1	3	1	1	0	2	1	4	1	4	1	1	4	3	1	1	10	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr20:3944539G>T	ENST00000336095.6	-	2	377	c.126C>A	c.(124-126)ttC>ttA	p.F42L	RNF24_ENST00000358395.6_Missense_Mutation_p.F42L|RNF24_ENST00000545616.2_Missense_Mutation_p.F63L|RNF24_ENST00000432261.2_Missense_Mutation_p.F63L	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	42						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						AGTAGCAACAGAAGAGTAAAC	0.299																																																	0													73	68	70					20																	3944539		2203	4300	6503	SO:0001583	missense	0			AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"RING-type (C3HC4) zinc fingers"	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.126C>A	20.37:g.3944539G>T	ENSP00000336753:p.Phe42Leu		D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.F63L	ENST00000336095.6	37	c.189	CCDS13074.1	20	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813591	0.70912	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.23348	1.93;1.93;1.91;1.91	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	L	0.39245	1.2	0.80722	D	1	P;P	0.49447	0.532;0.924	B;P	0.57776	0.348;0.827	T	0.01074	-1.1460	10	0.15066	T	0.55	-14.6365	18.0311	0.89285	0.0:0.0:1.0:0.0	.	63;42	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	L	42;42;63;63	ENSP00000336753:F42L;ENSP00000351166:F42L;ENSP00000444711:F63L;ENSP00000388550:F63L	ENSP00000336753:F42L	F	-	3	2	RNF24	3892539	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	9.238000	0.95380	2.857000	0.98124	0.650000	0.86243	TTC	RNF24	-	NULL	ENSG00000101236		0.299	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF24	HGNC	protein_coding	OTTHUMT00000077795.2	-	0	52	0	G			3944539	-1	tier1	-	no_errors	ENST00000432261	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	3944539	G	T	3944539	3	4	40	1	0	0	0	0	1	0	0	0	13529	933	33	3	340	3	RNF24	20	3944539	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		3944539	59080981	270	9927											
C20orf12	55184	genome.wustl.edu	37	chr20	18393405	18393405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttgccagatgggtaGaagaggccaacagtctgtgt	11	8	14	8	0	1	3	0	0	1	3	1	3	1	3	2	2	4	3	2	2	3	2			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr20:18393405G>T	ENST00000358866.6	-	12	1339	c.1317C>A	c.(1315-1317)ttC>ttA	p.F439L	DZANK1_ENST00000262547.5_Missense_Mutation_p.F439L|DZANK1_ENST00000329494.5_Missense_Mutation_p.F441L|DZANK1_ENST00000357236.4_Missense_Mutation_p.F325L|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	439							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						CAGATGGGTAGAAGAGGCCAA	0.512																																																	0													179	168	171					20																	18393405		1931	4132	6063	SO:0001583	missense	0			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"Ankyrin repeat domain containing"	15858	protein-coding gene	gene with protein product	"ankyrin repeat domain 64"		"chromosome 20 open reading frame 12"	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1317C>A	20.37:g.18393405G>T	ENSP00000351734:p.Phe439Leu		B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.F439L	ENST00000358866.6	37	c.1317	CCDS46582.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.43|19.43	3.826846|3.826846	0.71143|0.71143	.|.	.|.	ENSG00000089091|ENSG00000089091	ENST00000377630;ENST00000262547;ENST00000329494;ENST00000414623;ENST00000377637;ENST00000357236|ENST00000358866	T;T;T;T|.	0.78816|.	-1.21;-0.92;-0.24;-0.82|.	5.51|5.51	2.18|2.18	0.27775|0.27775	.|.	0.143965|.	0.64402|.	D|.	0.000006|.	T|T	0.71195|0.71195	0.3311|0.3311	M|M	0.81341|0.81341	2.54|2.54	0.42947|0.42947	D|D	0.994362|0.994362	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;D|.	0.91635|.	0.997;0.999;0.992;0.962|.	T|T	0.70547|0.70547	-0.4842|-0.4842	10|5	0.87932|.	D|.	0|.	-19.4079|-19.4079	9.2005|9.2005	0.37256|0.37256	0.3459:0.0:0.6541:0.0|0.3459:0.0:0.6541:0.0	.|.	458;325;439;224|.	B7Z631;Q9NVP4-4;Q9NVP4;A6NKD0|.	.;.;DZAN1_HUMAN;.|.	L|Y	272;439;441;271;224;325|238	ENSP00000366857:F272L;ENSP00000262547:F439L;ENSP00000328866:F441L;ENSP00000349774:F325L|.	ENSP00000262547:F439L|.	F|S	-|-	3|2	2|0	C20orf12|C20orf12	18341405|18341405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.627000|0.627000	0.37826|0.37826	1.389000|1.389000	0.34453|0.34453	0.703000|0.703000	0.31848|0.31848	-0.143000|-0.143000	0.13931|0.13931	TTC|TCT	DZANK1	-	NULL	ENSG00000089091		0.512	DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	DZANK1	HGNC	protein_coding	OTTHUMT00000471926.1		0	68	0	G	NM_001099407		18393405	-1			no_errors	ENST00000262547	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	18393405	G	T	18393405	3	4	40	1	0	0	0	0	1	0	0	0	2092	933	33	3	977	3	C20orf12	20	18393405	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	14448866	18393405	44632115	271	9928											
FAM65C	140876	genome.wustl.edu	37	chr20	49208889	49208889	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacaacgtaccttttcccGgaagcttctgttcctgactg	7	13	9	12	2	1	1	0	1	1	0	3	3	3	3	3	2	3	3	3	2	3	5	rs371046060		TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr20:49208889G>T	ENST00000327979.2	-	19	2968	c.2557C>A	c.(2557-2559)Cgg>Agg	p.R853R	FAM65C_ENST00000535356.1_Silent_p.R857R|FAM65C_ENST00000462842.1_5'Flank|FAM65C_ENST00000045083.2_Silent_p.R853R			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	853										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTTTTCCCGGAAGCTTCTG	0.597																																																	0													38	41	40					20																	49208889		2037	4174	6211	SO:0001819	synonymous_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.2557C>A	20.37:g.49208889G>T			Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.R857	ENST00000327979.2	37	c.2569	CCDS13431.2	20																																																																																			FAM65C	-	superfamily_ARM-type_fold	ENSG00000042062		0.597	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	-	0	14	0	G			49208889	-1	tier1	-	no_errors	ENST00000535356	ensembl	human	known	74_37	silent	46.43	15	13	SNP	1.000	T	T	49208889	G	T	49208889	2	4	40	1	0	0	0	0	0	0	0	1	5623	1115	39	2		2	FAM65C	20	49208889	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	30815484	49208889	13816631	272	9929											
GRIK1	2897	genome.wustl.edu	37	chr21	31015238	31015238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctgggatgcccggtGcgaggcaatggccaccatgt	7	7	16	11	2	1	0	1	0	0	0	1	2	1	1	3	5	3	2	3	5	1	0			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr21:31015238G>T	ENST00000399907.1	-	7	1417	c.1006C>A	c.(1006-1008)Cac>Aac	p.H336N	GRIK1_ENST00000309434.7_Missense_Mutation_p.H336N|GRIK1_ENST00000389125.3_Missense_Mutation_p.H336N|GRIK1_ENST00000399913.1_Missense_Mutation_p.H336N|GRIK1_ENST00000399914.1_Missense_Mutation_p.H336N|GRIK1_ENST00000389124.2_Missense_Mutation_p.H336N|GRIK1_ENST00000399909.1_Missense_Mutation_p.H336N|GRIK1_ENST00000535441.1_Missense_Mutation_p.H336N|GRIK1_ENST00000327783.4_Missense_Mutation_p.H336N|GRIK1_ENST00000472429.1_5'UTR	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	336					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GATGCCCGGTGCGAGGCAATG	0.527																																																	0													113	95	101					21																	31015238		2203	4300	6503	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1006C>A	21.37:g.31015238G>T	ENSP00000382791:p.His336Asn		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.H336N	ENST00000399907.1	37	c.1006	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881789	0.72294	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.18	5.18	0.71444	Extracellular ligand-binding receptor (1);	0.053911	0.85682	D	0.000000	T	0.73567	0.3603	N	0.24115	0.695	0.49213	D	0.999764	B;B;B;B;B;B	0.19706	0.038;0.038;0.004;0.038;0.038;0.03	B;B;B;B;B;B	0.29440	0.102;0.102;0.007;0.102;0.102;0.062	T	0.67987	-0.5528	10	0.37606	T	0.19	.	18.478	0.90800	0.0:0.0:1.0:0.0	.	336;336;336;336;336;336	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	N	336;336;336;336;336;280;336;336;336;336	ENSP00000327687:H336N;ENSP00000373777:H336N;ENSP00000382797:H336N;ENSP00000382798:H336N;ENSP00000446326:H336N;ENSP00000373776:H336N;ENSP00000382791:H336N;ENSP00000382793:H336N;ENSP00000311646:H336N	ENSP00000311646:H336N	H	-	1	0	GRIK1	29937109	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.172000	0.94808	2.688000	0.91661	0.655000	0.94253	CAC	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.527	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0	65	0	G			31015238	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	31015238	G	T	31015238	3	4	40	1	0	0	0	0	1	0	0	0	6800	1319	46	3	1954	3	GRIK1	21	31015238	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		31015238	17114657	273	9930											
HLCS	3141	genome.wustl.edu	37	chr21	38309059	38309059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgaacttctggtacAggtcttcgggaatggactcc	9	10	12	10	1	2	1	0	1	2	0	4	3	3	3	2	5	2	1	2	5	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr21:38309059A>G	ENST00000399120.1	-	5	1916	c.686T>C	c.(685-687)cTg>cCg	p.L229P	HLCS_ENST00000336648.4_Missense_Mutation_p.L229P	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	229					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTTCTGGTACAGGTCTTCGGG	0.537																																																	0													71	75	74					21																	38309059		2203	4300	6503	SO:0001583	missense	0				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)", "holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.686T>C	21.37:g.38309059A>G	ENSP00000382071:p.Leu229Pro		B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.L229P	ENST00000399120.1	37	c.686	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363449	0.61513	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98362	-4.89;-4.89	5.91	5.91	0.95273	.	0.523093	0.20513	N	0.090844	D	0.97911	0.9313	M	0.64997	1.995	0.28614	N	0.908507	D;D	0.62365	0.991;0.981	P;P	0.56700	0.804;0.726	D	0.95181	0.8299	10	0.26408	T	0.33	.	11.9385	0.52886	0.8699:0.0:0.0:0.1301	.	229;229	B2RAH1;P50747	.;BPL1_HUMAN	P	229	ENSP00000382071:L229P;ENSP00000338387:L229P	ENSP00000338387:L229P	L	-	2	0	HLCS	37230929	0.299000	0.24426	0.004000	0.12327	0.811000	0.45836	4.484000	0.60271	2.254000	0.74563	0.533000	0.62120	CTG	HLCS	-	NULL	ENSG00000159267		0.537	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	-	0	30	0	A			38309059	-1	tier1	-	no_errors	ENST00000336648	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.030	G	G	38309059	A	G	38309059	3	3	40	1	0	0	0	0	1	0	0	0	7240	188	7	4	1526	4	HLCS	21	38309059	Missense_Mutation	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	7293821	38309059	9820836	274	9931											
LIMK2	3985	genome.wustl.edu	37	chr22	31661933	31661933	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctttcctcatcttcaggCgcagtaacagtatctccaag	9	12	7	13	2	5	0	2	0	3	0	7	0	6	0	2	1	1	3	2	1	3	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr22:31661933C>A	ENST00000331728.4	+	8	970	c.856C>A	c.(856-858)Cgc>Agc	p.R286S	LIMK2_ENST00000406516.1_Splice_Site_p.R208S|LIMK2_ENST00000444929.2_Splice_Site_p.R40S|LIMK2_ENST00000340552.4_Splice_Site_p.R265S|LIMK2_ENST00000333611.4_Splice_Site_p.R265S	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	286					phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.R286C(1)|p.R265C(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CATCTTCAGGCGCAGTAACAG	0.562																																																	2	Substitution - Missense(2)	endometrium(2)											80	79	79					22																	31661933		2203	4300	6503	SO:0001630	splice_region_variant	0			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.855-1C>A	22.37:g.31661933C>A			A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R286S	ENST00000331728.4	37	c.856	CCDS13891.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975856	0.74360	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;T;T;T;T	0.74737	-0.87;-0.75;-0.72;-0.78;-0.84	4.99	4.99	0.66335	.	0.053857	0.85682	D	0.000000	D	0.84889	0.5572	M	0.67953	2.075	0.80722	D	1	P;D;D;P;D	0.69078	0.929;0.994;0.993;0.77;0.997	P;P;D;B;D	0.76071	0.702;0.806;0.982;0.283;0.987	D	0.85396	0.1128	10	0.51188	T	0.08	-17.4242	17.626	0.88095	0.0:1.0:0.0:0.0	.	318;265;40;286;208	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	S	208;40;286;318;265;265	ENSP00000384602:R208S;ENSP00000409522:R40S;ENSP00000332687:R286S;ENSP00000330470:R265S;ENSP00000339916:R265S	ENSP00000332687:R286S	R	+	1	0	LIMK2	29991933	1.000000	0.71417	0.998000	0.56505	0.385000	0.30292	1.764000	0.38471	2.479000	0.83701	0.411000	0.27672	CGC	LIMK2	-	NULL	ENSG00000182541		0.562	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1		0	43	0	C	NM_016733	Missense_Mutation	31661933	1			no_errors	ENST00000331728	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	31661933	C	A	31661933	5	1	40	1	0	0	0	0	0	0	1	0	8831	782	27	2	943	2	LIMK2	22	31661933	Splice_Site	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09		31661933	19642633	275	9932											
ARSA	410	genome.wustl.edu	37	chr22	51065261	51065261	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgggccaagatcacttaCgtgagaggcatagtacagga	12	8	14	7	1	1	2	1	1	0	2	1	4	1	3	1	4	2	3	1	4	4	4	rs146371968	byFrequency	TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chr22:51065261C>T	ENST00000547307.1	-	3	1084		c.e3+1		ARSA_ENST00000356098.5_Splice_Site|ARSA_ENST00000547805.1_Splice_Site|ARSA_ENST00000395621.3_Splice_Site|ARSA_ENST00000453344.2_Splice_Site|ARSA_ENST00000216124.5_Splice_Site|ARSA_ENST00000395619.3_Splice_Site			P15289	ARSA_HUMAN	arylsulfatase A						autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	AGATCACTTACGTGAGAGGCA	0.627																																																	0			GRCh37	CS951348	ARSA	S	rs146371968	C	,,,,	1,4405	2.1+/-5.4	0,1,2202	108	124	118		,,,,	5.4	1	22	dbSNP_134	118	0,8600		0,0,4300	no	splice-5,splice-5,splice-5,splice-5,splice-5	ARSA	NM_000487.5,NM_001085425.2,NM_001085426.2,NM_001085427.2,NM_001085428.2	,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,	,,,,	51065261	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"Arylsulfatase family"	713	protein-coding gene	gene with protein product	"metachromatic leucodystrophy"	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.678+1G>A	22.37:g.51065261C>T			B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Splice_Site	SNP	-	e3+1	ENST00000547307.1	37	c.684+1		22	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448901	0.63178	2.27E-4	0.0	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6247	0.84967	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARSA	49412127	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	7.229000	0.78088	2.538000	0.85594	0.511000	0.50034	.	ARSA	-	-	ENSG00000100299		0.627	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	ARSA	HGNC	protein_coding		-	0	40	0	C	NM_000487	Intron	51065261	-1	tier1	rs146371968	no_errors	ENST00000216124	ensembl	human	known	74_37	splice_site	84.62	4	22	SNP	1.000	T	T	51065261	C	T	51065261	5	4	40	1	0	0	0	0	0	0	1	0	988	550	19	1	868	1	ARSA	22	51065261	Splice_Site	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	19403328	51065261	239305	276	9933											
ARSD	414	genome.wustl.edu	37	chrX	2838661	2838661	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgaggccggttgcataGccatgctgctgcaagattct	8	11	11	11	1	1	2	0	1	1	1	1	2	1	2	3	2	5	5	3	2	3	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:2838661G>T	ENST00000381154.1	-	4	495	c.420C>A	c.(418-420)ggC>ggA	p.G140G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	140					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGTTGCATAGCCATGCTGCT	0.537																																																	0													96	73	81					X																	2838661		2203	4300	6503	SO:0001819	synonymous_variant	0			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.420C>A	X.37:g.2838661G>T			Q9UHJ8	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G140	ENST00000381154.1	37	c.420	CCDS35196.1	X																																																																																			ARSD	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000006756		0.537	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD	HGNC	protein_coding	OTTHUMT00000055636.1		0	16	0	G			2838661	-1			no_errors	ENST00000381154	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.964	T	T	2838661	G	T	2838661	2	4	40	1	0	0	0	0	0	0	0	1	990	958	34	3		3	ARSD	23	2838661	Silent	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09		2838661	152431899	277	9934											
KAL1	3730	genome.wustl.edu	37	chrX	8536274	8536274	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgacacagtcacttactGttgttggttgcatgtgtcga	9	14	10	8	1	1	1	1	1	0	0	2	2	1	1	0	1	2	4	0	1	1	4			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:8536274G>T	ENST00000262648.3	-	8	1355	c.1206C>A	c.(1204-1206)aaC>aaA	p.N402K		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	402					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTCACTTACTGTTGTTGGTTG	0.448																																																	0													178	103	128					X																	8536274		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"WAP four-disulfide core domain containing", "Fibronectin type III domain containing"	6211	protein-coding gene	gene with protein product	"anosmin-1", "WAP four-disulfide core domain 19"	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1207+1C>A	X.37:g.8536274G>T			B2RPF8	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core	p.N402K	ENST00000262648.3	37	c.1206	CCDS14130.1	X	.	.	.	.	.	.	.	.	.	.	G	4.905	0.168193	0.09339	.	.	ENSG00000011201	ENST00000262648	T	0.74002	-0.8	3.78	0.0677	0.14367	.	0.833558	0.10708	N	0.643187	T	0.66137	0.2759	L	0.51422	1.61	0.23685	N	0.997119	B	0.20988	0.05	B	0.26517	0.07	T	0.56751	-0.7927	10	0.46703	T	0.11	-18.2387	6.8266	0.23887	0.6:0.0:0.4:0.0	.	402	P23352	KALM_HUMAN	K	402	ENSP00000262648:N402K	ENSP00000262648:N402K	N	-	3	2	KAL1	8496274	0.796000	0.28864	0.567000	0.28434	0.368000	0.29767	0.527000	0.22987	0.036000	0.15547	0.536000	0.68110	AAC	KAL1	-	NULL	ENSG00000011201		0.448	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAL1	HGNC	protein_coding	OTTHUMT00000055692.1		0	14	0	G	NM_000216	Missense_Mutation	8536274	-1			no_errors	ENST00000262648	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.825	T	T	8536274	G	T	8536274	5	4	40	1	0	0	0	0	0	0	1	0	8001	1391	48	3	864	3	KAL1	23	8536274	Splice_Site	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	5697613	8536274	146734286	278	9935											
MID1	4281	genome.wustl.edu	37	chrX	10535076	10535076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaagcacatcagccccCggatgtgagagtccggaatt	10	7	11	13	2	1	1	1	1	0	1	3	4	3	3	4	2	2	2	4	2	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:10535076C>A	ENST00000317552.4	-	2	912	c.512G>T	c.(511-513)cGg>cTg	p.R171L	MID1_ENST00000380785.1_Missense_Mutation_p.R171L|MID1_ENST00000380787.1_Missense_Mutation_p.R171L|MID1_ENST00000380779.1_Missense_Mutation_p.R171L|MID1_ENST00000380780.1_Missense_Mutation_p.R171L|MID1_ENST00000380782.2_Missense_Mutation_p.R171L|MID1_ENST00000453318.2_Missense_Mutation_p.R171L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	171					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATCAGCCCCCGGATGTGAGA	0.512																																																	0													105	89	94					X																	10535076		2203	4300	6503	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.512G>T	X.37:g.10535076C>A	ENSP00000312678:p.Arg171Leu		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R171L	ENST00000317552.4	37	c.512	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164261	0.78339	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894;ENST00000423614	T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.64	5.64	0.86602	Zinc finger, B-box (2);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.63843	1.955	0.80722	D	1	D;P;P;D;D;D	0.63046	0.979;0.951;0.917;0.978;0.992;0.992	P;P;P;P;D;P	0.64877	0.809;0.57;0.806;0.835;0.93;0.898	T	0.72597	-0.4245	10	0.72032	D	0.01	.	18.7983	0.92005	0.0:1.0:0.0:0.0	.	171;171;171;171;171;171	C9JZJ7;B7Z5K6;C9J453;O15344-2;A8K5A0;O15344	.;.;.;.;.;TRI18_HUMAN	L	171;171;171;171;171;171;171;159;171;171	ENSP00000414521:R171L;ENSP00000312678:R171L;ENSP00000370162:R171L;ENSP00000370156:R171L;ENSP00000370164:R171L;ENSP00000370157:R171L;ENSP00000370159:R171L;ENSP00000391154:R171L;ENSP00000387771:R171L	ENSP00000312678:R171L	R	-	2	0	MID1	10495076	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.828000	0.62730	2.386000	0.81285	0.600000	0.82982	CGG	MID1	-	smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000101871		0.512	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1		0	24	0	C			10535076	-1			no_errors	ENST00000317552	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	10535076	C	A	10535076	3	1	40	1	0	0	0	0	1	0	0	0	9614	652	23	2	1527	2	MID1	23	10535076	Missense_Mutation	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09	1998802	10535076	144735484	279	9936											
RS1	6247	genome.wustl.edu	37	chrX	18665448	18665448	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagaggcttgtgatatggGcattctgggaaaggaaaaag	13	8	14	6	0	1	2	0	1	1	1	1	4	1	4	1	4	0	2	1	4	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:18665448G>T	ENST00000379984.3	-	4	229	c.189C>A	c.(187-189)tgC>tgA	p.C63*	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	63	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TGTGATATGGGCATTCTGGGA	0.478																																																	0													72	67	69					X																	18665448		2203	4300	6503	SO:0001587	stop_gained	0			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"retinoschisis (X-linked, juvenile) 1"	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.189C>A	X.37:g.18665448G>T	ENSP00000369320:p.Cys63*		Q0QD39	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.C63*	ENST00000379984.3	37	c.189	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	G	31	5.104591	0.94245	.	.	ENSG00000102104	ENST00000379984	.	.	.	5.43	3.64	0.41730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3004	0.26418	0.3956:0.0:0.6043:0.0	.	.	.	.	X	63	.	ENSP00000369320:C63X	C	-	3	2	RS1	18575369	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.277000	0.33167	1.052000	0.40392	0.523000	0.50628	TGC	RS1	-	smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000102104		0.478	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1		0	44	0	G			18665448	-1			no_errors	ENST00000379984	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	18665448	G	T	18665448	4	4	40	1	0	0	0	0	0	1	0	0	13738	1195	42	3	497	3	RS1	23	18665448	Nonsense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	8130372	18665448	136605112	280	9937											
RBM10	8241	genome.wustl.edu	37	chrX	47039309	47039309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaacctgaacccacacaGcaccatggattccatcctgg	11	6	8	16	1	0	1	0	1	0	0	2	2	2	2	5	2	3	2	5	2	2	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:47039309G>A	ENST00000377604.3	+	10	1674	c.932G>A	c.(931-933)aGc>aAc	p.S311N	RBM10_ENST00000329236.7_Missense_Mutation_p.S234N|RBM10_ENST00000345781.6_Missense_Mutation_p.S234N|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	311	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AACCCACACAGCACCATGGAT	0.612																																					Melanoma(171;120 2705 19495 39241)												0													49	27	35					X																	47039309		2203	4299	6502	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.932G>A	X.37:g.47039309G>A	ENSP00000366829:p.Ser311Asn		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S311N	ENST00000377604.3	37	c.932	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953870	0.53293	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.09350	2.99;2.99;2.99	3.99	3.99	0.46301	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.182926	0.47852	D	0.000203	T	0.15478	0.0373	L	0.47190	1.495	0.28557	N	0.911345	B;B;B;B;B	0.33238	0.256;0.16;0.356;0.118;0.403	B;B;B;B;B	0.41646	0.187;0.309;0.303;0.094;0.362	T	0.06625	-1.0816	10	0.72032	D	0.01	-6.2961	13.3466	0.60578	0.0:0.0:1.0:0.0	.	234;376;311;234;311	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	N	311;234;234	ENSP00000366829:S311N;ENSP00000328848:S234N;ENSP00000329659:S234N	ENSP00000328848:S234N	S	+	2	0	RBM10	46924253	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.726000	0.54977	1.930000	0.55929	0.431000	0.28591	AGC	RBM10	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000182872		0.612	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	-	0	55	0	G	NM_005676		47039309	1	tier1	-	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	88.14	7	52	SNP	1.000	A	A	47039309	G	A	47039309	3	1	40	1	0	0	0	0	1	0	0	0	13156	971	34	3	966	3	RBM10	23	47039309	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	28373861	47039309	108231251	281	9938											
COL4A5	1287	genome.wustl.edu	37	chrX	107920802	107920802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagagaagggaaatccagGccaacctgggctacctggct	12	5	14	10	0	0	1	0	0	0	1	1	4	1	3	4	5	2	2	4	5	4	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:107920802G>T	ENST00000361603.2	+	42	4107	c.3863G>T	c.(3862-3864)gGc>gTc	p.G1288V	COL4A5_ENST00000328300.6_Missense_Mutation_p.G1294V|Y_RNA_ENST00000384417.1_RNA	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1288	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGAAATCCAGGCCAACCTGGG	0.483									Alport syndrome with Diffuse Leiomyomatosis																																								0													93	79	83					X																	107920802		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3863G>T	X.37:g.107920802G>T	ENSP00000354505:p.Gly1288Val		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1294V	ENST00000361603.2	37	c.3881	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938252	0.73557	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.99637	-6.29;-6.29	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.99785	0.9910	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97014	0.9738	10	0.87932	D	0	.	18.5074	0.90902	0.0:0.0:1.0:0.0	.	1291;1288	E7EVY4;P29400	.;CO4A5_HUMAN	V	1294;1288;1294	ENSP00000331902:G1294V;ENSP00000354505:G1288V	ENSP00000331902:G1294V	G	+	2	0	COL4A5	107807458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.400000	0.81607	0.594000	0.82650	GGC	COL4A5	-	pfam_Collagen	ENSG00000188153		0.483	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0	28	0	G			107920802	1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	107920802	G	T	107920802	3	4	40	1	0	0	0	0	1	0	0	0	3701	1203	42	3	4040	3	COL4A5	23	107920802	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	60881493	107920802	47349758	282	9939											
ZCCHC16	340595	genome.wustl.edu	37	chrX	111698082	111698082	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacactgctaaaaggggccaAgtcatgcctgccctggccac	11	6	10	14	0	1	0	1	0	0	0	1	0	1	0	4	3	4	1	4	3	4	1			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:111698082A>G	ENST00000340433.2	+	1	356	c.126A>G	c.(124-126)caA>caG	p.Q42Q		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	42							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AAAGGGGCCAAGTCATGCCTG	0.522																																																	0													120	88	99					X																	111698082		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"Zinc fingers, CCHC domain containing"	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.126A>G	X.37:g.111698082A>G			B2RPG1	Silent	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.Q42	ENST00000340433.2	37	c.126	CCDS35369.1	X																																																																																			ZCCHC16	-	NULL	ENSG00000187823		0.522	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC16	HGNC	protein_coding	OTTHUMT00000356964.1	-	0	21	0	A	NM_001004308		111698082	1	tier1	-	no_errors	ENST00000340433	ensembl	human	known	74_37	silent	69.70	10	23	SNP	0.001	G	G	111698082	A	G	111698082	2	3	40	1	0	0	0	0	0	0	0	1	17632	69	3	4		4	ZCCHC16	23	111698082	Silent	SNP	A	TCGA-JY-A6FH-01A-11D-A33E-09	3777280	111698082	43572478	283	9940											
CUL4B	8450	genome.wustl.edu	37	chrX	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-																															ttgcagcagttggtgaagatGaggaggaggaggaggaggat																										TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S|CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																																	0									,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S146in_frame_del	ENST00000404115.3	37	c.431_429	CCDS35379.1	X																																																																																			CUL4B	-	NULL	ENSG00000158290		0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1		0	21	0	GAG	NM_003588		119694119	-1	tier1		no_errors	ENST00000404115	ensembl	human	known	74_37	in_frame_del	15.15	28	5	DEL	0.999:1.000:1.000	-	-	119694119	GAG	-	119694117	7	5	40	1	0	1	0	1	0	0	0	0	4067	1294	45	0	2390	0	CUL4B	23	119694117	In_Frame_Del	DEL	GAG	TCGA-JY-A6FH-01A-11D-A33E-09	7996035	119694117	35576443	284	9941											
ATP11C	286410	genome.wustl.edu	37	chrX	138865369	138865369	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttaactcaatttcatgaTtttgcactctgggaaaaact	13	15	6	7	0	3	1	2	1	1	0	3	2	3	2	0	1	3	2	0	1	5	5			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:138865369T>C	ENST00000327569.3	-	17	1831	c.1733A>G	c.(1732-1734)aAt>aGt	p.N578S	ATP11C_ENST00000361648.2_Missense_Mutation_p.N578S|ATP11C_ENST00000359686.2_Missense_Mutation_p.N578S|ATP11C_ENST00000370557.1_Missense_Mutation_p.N575S|ATP11C_ENST00000370543.1_Missense_Mutation_p.N578S|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	578					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AATTTCATGATTTTGCACTCT	0.378																																																	0													206	195	199					X																	138865369		2203	4300	6503	SO:0001583	missense	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1733A>G	X.37:g.138865369T>C	ENSP00000332756:p.Asn578Ser		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.N578S	ENST00000327569.3	37	c.1733	CCDS14668.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.861|3.861	-0.029838|-0.029838	0.07589|0.07589	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000422228|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	.|T;T;T;T;T	.|0.67345	.|-0.26;-0.26;-0.26;-0.26;-0.26	5.03|5.03	-0.462|-0.462	0.12168|0.12168	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.670186	.|0.15462	.|N	.|0.261070	T|T	0.27629|0.27629	0.0679|0.0679	N|N	0.02665|0.02665	-0.54|-0.54	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.0;0.001	T|T	0.17930|0.17930	-1.0353|-1.0353	5|10	.|0.07644	.|T	.|0.81	.|.	0.9858|0.9858	0.01446|0.01446	0.1544:0.2805:0.1547:0.4104|0.1544:0.2805:0.1547:0.4104	.|.	.|578;578	.|Q8NB49-3;Q8NB49	.|.;AT11C_HUMAN	V|S	130|575;578;578;578;578	.|ENSP00000359588:N575S;ENSP00000355165:N578S;ENSP00000332756:N578S;ENSP00000359574:N578S;ENSP00000352715:N578S	.|ENSP00000332756:N578S	I|N	-|-	1|2	0|0	ATP11C|ATP11C	138693035|138693035	0.765000|0.765000	0.28485|0.28485	0.951000|0.951000	0.38953|0.38953	0.975000|0.975000	0.68041|0.68041	0.105000|0.105000	0.15333|0.15333	0.125000|0.125000	0.18397|0.18397	0.481000|0.481000	0.45027|0.45027	ATC|AAT	ATP11C	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000101974		0.378	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	-	0	29	0	T	NM_173694		138865369	-1	tier1	-	no_errors	ENST00000327569	ensembl	human	known	74_37	missense	84.62	6	33	SNP	0.233	C	C	138865369	T	C	138865369	3	2	40	1	0	0	0	0	1	0	0	0	1122	1493	52	4	1784	4	ATP11C	23	138865369	Missense_Mutation	SNP	T	TCGA-JY-A6FH-01A-11D-A33E-09	19171252	138865369	16405191	285	9942											
L1CAM	3897	genome.wustl.edu	37	chrX	153130278	153130278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattcctccagcttaccaGacaaggccatagtgcctcct	9	10	7	15	0	1	1	1	0	0	1	4	1	4	1	6	1	3	1	6	1	3	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrX:153130278G>T	ENST00000370060.1	-	23	3233	c.3044C>A	c.(3043-3045)tCt>tAt	p.S1015Y	L1CAM_ENST00000361981.3_Missense_Mutation_p.S1010Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1015Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1017Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1017Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1010Y|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1015Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1015	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTTACCAGACAAGGCCAT	0.637																																																	0													97	92	94					X																	153130278		2203	4300	6503	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.3044C>A	X.37:g.153130278G>T	ENSP00000359077:p.Ser1015Tyr		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1017Y	ENST00000370060.1	37	c.3050	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779146	0.31502	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60797	0.16;0.17;0.16;0.17;0.19;0.19;0.16	5.17	3.35	0.38373	.	0.654962	0.14185	N	0.335777	T	0.34193	0.0889	N	0.08118	0	0.09310	N	1	B;B;B	0.23249	0.082;0.014;0.049	B;B;B	0.25614	0.062;0.039;0.028	T	0.19095	-1.0316	10	0.40728	T	0.16	.	5.9572	0.19279	0.2405:0.0:0.7595:0.0	.	1010;1015;1015	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	Y	1015;1017;1015;1017;1010;1010;1015	ENSP00000359077:S1015Y;ENSP00000438430:S1017Y;ENSP00000359074:S1015Y;ENSP00000439645:S1017Y;ENSP00000354712:S1010Y;ENSP00000359072:S1010Y;ENSP00000355380:S1015Y	ENSP00000355380:S1015Y	S	-	2	0	L1CAM	152783472	0.003000	0.15002	0.172000	0.22920	0.634000	0.38068	1.108000	0.31123	0.942000	0.37525	0.529000	0.55759	TCT	L1CAM	-	NULL	ENSG00000198910		0.637	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0	65	0	G	NM_024003		153130278	-1	tier1	-	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.077	T	T	153130278	G	T	153130278	3	4	40	1	0	0	0	0	1	0	0	0	8616	942	33	3	757	3	L1CAM	23	153130278	Missense_Mutation	SNP	G	TCGA-JY-A6FH-01A-11D-A33E-09	14264909	153130278	2140282	286	9943											
USP9Y	8287	genome.wustl.edu	37	chrY	14954277	14954277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaataccttctggagtgCcctagtgcagaagtgagggg	9	10	14	8	0	2	3	0	2	2	1	2	4	2	4	2	3	3	1	2	3	4	3			TCGA-JY-A6FH-01A-11D-A33E-09	TCGA-JY-A6FH-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	9a39b1d4-93ab-4208-9e29-10a436923ba6	e5e357da-c78e-466e-b581-75c3ff015527	g.chrY:14954277C>T	ENST00000338981.3	+	38	7269	c.6324C>T	c.(6322-6324)tgC>tgT	p.C2108C	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	2108					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTCTGGAGTGCCCTAGTGCAG	0.413																																																	0																																										SO:0001819	synonymous_variant	0			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.6324C>T	Y.37:g.14954277C>T			O14601	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.C2108	ENST00000338981.3	37	c.6324	CCDS14781.1	Y																																																																																			USP9Y	-	NULL	ENSG00000114374		0.413	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2	-	0	25	0	C	NM_004654		14954277	1	tier1	-	no_errors	ENST00000338981	ensembl	human	known	74_37	silent	14.29	18	3	SNP	1.000	T	T	14954277	C	T	14954277	2	4	40	1	0	0	0	0	0	0	0	1	17140	747	26	3		3	USP9Y	24	14954277	Silent	SNP	C	TCGA-JY-A6FH-01A-11D-A33E-09		14954277	44419289	287	9944											
DHRS3	9249	genome.wustl.edu	37	chr1	12639425	12639425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcattgttcaccaggaTggtgatgtcacccacctgca	8	9	12	12	1	2	1	2	1	0	0	2	2	2	2	3	4	1	3	3	4	0	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:12639425T>C	ENST00000376223.2	-	3	738	c.355A>G	c.(355-357)Atc>Gtc	p.I119V	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	119					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TTCACCAGGATGGTGATGTCA	0.547																																																	0													98	77	84					1																	12639425		2203	4300	6503	SO:0001583	missense	0			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	17693	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 1"	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.355A>G	1.37:g.12639425T>C	ENSP00000365397:p.Ile119Val		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I119V	ENST00000376223.2	37	c.355	CCDS146.1	1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279575	0.59758	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;D	0.86865	-2.18;-2.18	5.81	5.81	0.92471	NAD(P)-binding domain (1);	0.043464	0.85682	D	0.000000	T	0.80727	0.4678	N	0.25332	0.735	0.54753	D	0.999988	P;B	0.41978	0.767;0.117	B;B	0.38683	0.279;0.106	T	0.80913	-0.1170	10	0.35671	T	0.21	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	119;119	B2R7F3;O75911	.;DHRS3_HUMAN	V	119;34	ENSP00000365397:I119V;ENSP00000387903:I34V	ENSP00000365397:I119V	I	-	1	0	DHRS3	12562012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.940000	0.70187	2.217000	0.71921	0.533000	0.62120	ATC	DHRS3	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000162496		0.547	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1	-	0	45	0	T	NM_004753		12639425	-1	tier1	-	no_errors	ENST00000376223	ensembl	human	known	74_37	missense	22.08	60	17	SNP	1.000	C	C	12639425	T	C	12639425	3	2	41	1	0	0	0	0	1	0	0	0	4505	1464	51	4	569	4	DHRS3	1	12639425	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09		12639425	236611196	1	9945											
FUCA1	2517	genome.wustl.edu	37	chr1	24172588	24172588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagttgaggtagttatgggGgattcaaggtttaagactcc	10	13	14	4	0	1	2	1	1	0	1	2	3	2	3	1	4	0	5	1	4	5	7			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:24172588G>A	ENST00000374479.3	-	7	1243	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	412					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TAGTTATGGGGGATTCAAGGT	0.423																																																	0													99	96	97					1																	24172588		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.1236C>T	1.37:g.24172588G>A			B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Silent	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.S412	ENST00000374479.3	37	c.1236	CCDS244.2	1																																																																																			FUCA1	-	smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub	ENSG00000179163		0.423	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA1	HGNC	protein_coding	OTTHUMT00000008259.2	-	0	62	0	G	NM_000147		24172588	-1	tier1	-	no_errors	ENST00000374479	ensembl	human	known	74_37	silent	12.86	61	9	SNP	0.024	A	A	24172588	G	A	24172588	2	1	41	1	0	0	0	0	0	0	0	1	6118	1219	43	3		3	FUCA1	1	24172588	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	11533163	24172588	225078033	2	9946											
MYOM3	127294	genome.wustl.edu	37	chr1	24421447	24421447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagactggcttcagcaccGaggtgaattccacgctgggg	10	7	13	11	2	1	2	1	1	0	1	2	3	2	2	2	4	1	3	2	4	2	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:24421447G>A	ENST00000374434.3	-	9	986	c.824C>T	c.(823-825)tCg>tTg	p.S275L	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.S276L|MYOM3_ENST00000329601.7_Missense_Mutation_p.S275L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	275	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCAGCACCGAGGTGAATTC	0.537																																																	0													53	54	54					1																	24421447		1939	4132	6071	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.824C>T	1.37:g.24421447G>A	ENSP00000363557:p.Ser275Leu		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S276L	ENST00000374434.3	37	c.827	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560761	0.45590	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	5.18	0.71444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.511378	0.20145	N	0.098281	T	0.73329	0.3573	M	0.64997	1.995	0.28496	N	0.914237	P;D	0.56521	0.898;0.976	B;P	0.53760	0.424;0.734	T	0.68577	-0.5372	10	0.32370	T	0.25	.	15.6174	0.76778	0.0:0.0:1.0:0.0	.	275;275	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	L	275;276;275	ENSP00000363557:S275L;ENSP00000332670:S276L;ENSP00000328415:S275L	ENSP00000328415:S275L	S	-	2	0	MYOM3	24294034	0.862000	0.29867	0.876000	0.34364	0.202000	0.24057	2.566000	0.45948	2.406000	0.81754	0.557000	0.71058	TCG	MYOM3	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000142661		0.537	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	-	0	35	0	G	NM_152372		24421447	-1	tier1	-	no_errors	ENST00000330966	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.622	A	A	24421447	G	A	24421447	3	1	41	1	0	0	0	0	1	0	0	0	10131	1059	37	1	3605	1	MYOM3	1	24421447	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	248859	24421447	224829174	3	9947											
PRKAA2	5563	genome.wustl.edu	37	chr1	57173343	57173343	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcagtcacaccatggattTttttgaaatgtgtgccagtc	9	13	11	8	0	1	1	1	1	0	0	2	2	1	2	2	2	1	1	2	2	1	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:57173343T>G	ENST00000371244.4	+	9	1682	c.1616T>G	c.(1615-1617)tTt>tGt	p.F539C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	539					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ACCATGGATTTTTTTGAAATG	0.418																																																	0													126	116	120					1																	57173343		2203	4300	6503	SO:0001583	missense	0			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1616T>G	1.37:g.57173343T>G	ENSP00000360290:p.Phe539Cys		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F539C	ENST00000371244.4	37	c.1616	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603505	0.87157	.	.	ENSG00000162409	ENST00000371244	T	0.78707	-1.2	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87886	0.2681	10	0.87932	D	0	-27.1018	16.4943	0.84223	0.0:0.0:0.0:1.0	.	539	P54646	AAPK2_HUMAN	C	539	ENSP00000360290:F539C	ENSP00000360290:F539C	F	+	2	0	PRKAA2	56945931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	TTT	PRKAA2	-	NULL	ENSG00000162409		0.418	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	-	0	41	0	T	NM_006252		57173343	1	tier1	-	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	19.72	57	14	SNP	1.000	G	G	57173343	T	G	57173343	3	3	41	1	0	0	0	0	1	0	0	0	12536	1841	64	4	1650	4	PRKAA2	1	57173343	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	32751896	57173343	192077278	4	9948											
PGM1	5236	genome.wustl.edu	37	chr1	64101965	64101965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttcagactctgtggctGtcattgctgccaacatcttc	7	13	7	14	0	4	1	2	0	2	1	5	1	4	1	2	1	3	2	2	1	1	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:64101965G>A	ENST00000371084.3	+	6	1147	c.934G>A	c.(934-936)Gtc>Atc	p.V312I	PGM1_ENST00000371083.4_Missense_Mutation_p.V330I|PGM1_ENST00000540265.1_Missense_Mutation_p.V115I	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	312					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCTGTGGCTGTCATTGCTGC	0.517																																																	0													123	109	114					1																	64101965		2203	4300	6503	SO:0001583	missense	0			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.934G>A	1.37:g.64101965G>A	ENSP00000360125:p.Val312Ile		B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.V330I	ENST00000371084.3	37	c.988	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988177	0.35036	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.42513	0.97;0.97;0.97	5.2	5.2	0.72013	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.124181	0.53938	D	0.000045	T	0.20007	0.0481	L	0.41632	1.29	0.48571	D	0.999672	B;B	0.23377	0.018;0.084	B;B	0.29524	0.017;0.103	T	0.12811	-1.0533	10	0.05525	T	0.97	-0.2057	18.9316	0.92568	0.0:0.0:1.0:0.0	.	330;312	P36871-2;P36871	.;PGM1_HUMAN	I	288;312;115;330	ENSP00000360125:V312I;ENSP00000443449:V115I;ENSP00000360124:V330I	ENSP00000360124:V330I	V	+	1	0	PGM1	63874553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.829000	0.86735	2.691000	0.91804	0.655000	0.94253	GTC	PGM1	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000079739		0.517	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	-	0	42	0	G	NM_002633		64101965	1	tier1	-	no_errors	ENST00000371083	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	A	A	64101965	G	A	64101965	3	1	41	1	0	0	0	0	1	0	0	0	11836	1377	48	3	1260	3	PGM1	1	64101965	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	6928622	64101965	185148656	5	9949											
SPATA1	100505741	genome.wustl.edu	37	chr1	84982041	84982041	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccattcagacattagtgaAtatgtcactcaatccaagtc	13	12	5	11	0	3	2	3	1	0	1	6	2	5	2	2	0	0	0	2	0	5	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:84982041A>C	ENST00000370638.2	+	0	264							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ACATTAGTGAATATGTCACTC	0.259																																																	0													22	22	22					1																	84982041		2189	4273	6462			0			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84982041A>C			A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	SNP	-	NULL	ENST00000370638.2	37	NULL		1																																																																																			SPATA1	-	-	ENSG00000122432		0.259	SPATA1-007	KNOWN	basic	processed_transcript	SPATA1	HGNC	pseudogene	OTTHUMT00000314701.1	-	0	75	0	A	NM_022354		84982041	1	tier1	-	no_errors	ENST00000370638	ensembl	human	known	74_37	rna	16.04	89	17	SNP	0.031	C	C	84982041	A	C	84982041	1	2	41	0	1	0	0	0	0	0	0	0	15045	101	4	4		4	SPATA1	1	84982041	RNA	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	20880076	84982041	164268580	6	9950											
IGSF3	3321	genome.wustl.edu	37	chr1	117120149	117120149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagacgaagtagaagagtgCgtcgttggagcagatgatgg	13	7	17	4	3	0	5	0	1	0	4	1	8	0	6	0	2	2	3	0	2	4	2	rs368581214		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:117120149C>T	ENST00000369486.3	-	11	4135	c.3370G>A	c.(3370-3372)Gca>Aca	p.A1124T	IGSF3_ENST00000318837.6_Missense_Mutation_p.A1144T|IGSF3_ENST00000369483.1_Missense_Mutation_p.A1144T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1124					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TAGAAGAGTGCGTCGTTGGAG	0.488																																																	0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	134	135	135		3370,3430	4.7	0.1	1		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IGSF3	NM_001007237.1,NM_001542.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1124/1195,1144/1215	117120149	1,13005	2203	4300	6503	SO:0001583	missense	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3370G>A	1.37:g.117120149C>T	ENSP00000358498:p.Ala1124Thr		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A1144T	ENST00000369486.3	37	c.3430	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982690	0.53827	0.0	1.16E-4	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.01;4.01	4.69	4.69	0.59074	.	0.230965	0.37053	N	0.002272	T	0.03053	0.0090	L	0.54323	1.7	0.43959	D	0.996634	D;D	0.64830	0.982;0.994	B;B	0.42319	0.383;0.383	T	0.48210	-0.9055	10	0.72032	D	0.01	-25.6931	15.1687	0.72850	0.0:1.0:0.0:0.0	.	1124;1144	O75054;A6NJZ6	IGSF3_HUMAN;.	T	1124;1144;1144	ENSP00000358498:A1124T;ENSP00000358495:A1144T;ENSP00000321184:A1144T	ENSP00000321184:A1144T	A	-	1	0	IGSF3	116921672	0.996000	0.38824	0.078000	0.20375	0.633000	0.38033	3.389000	0.52516	2.434000	0.82447	0.655000	0.94253	GCA	IGSF3	-	NULL	ENSG00000143061		0.488	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0	64	0	C	NM_001542		117120149	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	15.94	58	11	SNP	0.753	T	T	117120149	C	T	117120149	3	4	41	1	0	0	0	0	1	0	0	0	7628	768	27	1	218	1	IGSF3	1	117120149	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	32138108	117120149	132130472	7	9951											
HAO2	51179	genome.wustl.edu	37	chr1	119935261	119935261	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgaacatggtgttaaggaAgttttgaacattttaacaaa	15	13	10	3	0	0	2	0	2	0	0	0	3	0	3	0	3	3	2	0	3	6	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:119935261A>C	ENST00000325945.3	+	7	1024	c.951A>C	c.(949-951)gaA>gaC	p.E317D	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000361035.4_Missense_Mutation_p.E330D	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	317	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTGTTAAGGAAGTTTTGAACA	0.408																																																	0													138	119	125					1																	119935261		2203	4300	6503	SO:0001583	missense	0			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"(S)-2-hydroxy-acid oxidase", "glycolate oxidase", "long-chain L-2-hydroxy acid oxidase", "growth-inhibiting protein 16"	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.951A>C	1.37:g.119935261A>C	ENSP00000316339:p.Glu317Asp		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.E330D	ENST00000325945.3	37	c.990	CCDS901.1	1	.	.	.	.	.	.	.	.	.	.	A	9.636	1.137812	0.21123	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.29397	1.57;1.57	5.52	3.18	0.36537	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.225630	0.45867	N	0.000325	T	0.04907	0.0132	N	0.17082	0.46	0.45733	D	0.998631	B	0.02656	0.0	B	0.04013	0.001	T	0.26503	-1.0101	9	.	.	.	-18.7178	1.4038	0.02276	0.5587:0.1367:0.1569:0.1477	.	317	Q9NYQ3	HAOX2_HUMAN	D	330;317	ENSP00000354314:E330D;ENSP00000316339:E317D	.	E	+	3	2	HAO2	119736784	0.987000	0.35691	0.995000	0.50966	0.637000	0.38172	0.365000	0.20348	0.510000	0.28216	0.460000	0.39030	GAA	HAO2	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN	ENSG00000116882		0.408	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	HGNC	protein_coding	OTTHUMT00000034984.1	-	0	33	0	A	NM_001005783		119935261	1	tier1	-	no_errors	ENST00000361035	ensembl	human	known	74_37	missense	18.18	54	12	SNP	0.998	C	C	119935261	A	C	119935261	3	2	41	1	0	0	0	0	1	0	0	0	6979	69	3	4	973	4	HAO2	1	119935261	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	2815112	119935261	129315360	8	9952											
ENSA	2029	genome.wustl.edu	37	chr1	150600027	150600027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggcctttagctttgcctcTtcagctctctcaggcagaat	6	15	8	12	0	4	1	2	0	2	1	5	1	4	1	2	2	3	3	2	2	2	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:150600027T>A	ENST00000369014.5	-	2	224	c.99A>T	c.(97-99)gaA>gaT	p.E33D	ENSA_ENST00000362052.7_Missense_Mutation_p.E33D|ENSA_ENST00000369016.4_Missense_Mutation_p.E33D|ENSA_ENST00000369009.3_Missense_Mutation_p.E33D|ENSA_ENST00000503241.1_Missense_Mutation_p.E33D|ENSA_ENST00000503345.1_Missense_Mutation_p.E33D|ENSA_ENST00000513281.1_Missense_Mutation_p.E29D|ENSA_ENST00000356527.5_Missense_Mutation_p.E33D|ENSA_ENST00000271690.8_Missense_Mutation_p.E33D|ENSA_ENST00000339643.5_Missense_Mutation_p.E33D|ENSA_ENST00000361532.5_Missense_Mutation_p.E29D|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361631.5_Missense_Mutation_p.E29D			O43768	ENSA_HUMAN	endosulfine alpha	33					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTTGCCTCTTCAGCTCTCT	0.463																																					Esophageal Squamous(188;763 2078 3002 3411 26027)												0													56	54	55					1																	150600027		2203	4300	6503	SO:0001583	missense	0			X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.99A>T	1.37:g.150600027T>A	ENSP00000358010:p.Glu33Asp		A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Missense_Mutation	SNP	pfam_Endosulphine	p.E33D	ENST00000369014.5	37	c.99	CCDS958.1	1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042485	0.75732	.	.	ENSG00000143420	ENST00000369016;ENST00000369014;ENST00000369009;ENST00000361532;ENST00000361631;ENST00000339643;ENST00000271690;ENST00000356527;ENST00000502246;ENST00000513281;ENST00000503345;ENST00000503241;ENST00000362052	T	0.61627	0.09	5.16	3.29	0.37713	.	0.053485	0.64402	D	0.000001	T	0.68320	0.2988	M	0.85373	2.75	0.54753	D	0.999988	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.995;0.995;0.998;0.99;0.999	D;D;P;D;D;D;D	0.83275	0.979;0.996;0.885;0.958;0.972;0.98;0.977	T	0.72554	-0.4258	10	0.72032	D	0.01	.	9.8491	0.41046	0.0:0.8575:0.0:0.1425	.	33;33;33;33;33;29;29	A6NMQ3;O43768-8;E9PB69;O43768;O43768-3;O43768-5;O43768-7	.;.;.;ENSA_HUMAN;.;.;.	D	33;33;33;29;29;33;33;33;33;29;33;33;33	ENSP00000358012:E33D	ENSP00000271690:E33D	E	-	3	2	ENSA	148866651	0.985000	0.35326	1.000000	0.80357	0.993000	0.82548	0.243000	0.18106	0.557000	0.29117	-0.441000	0.05720	GAA	ENSA	-	NULL	ENSG00000143420		0.463	ENSA-001	KNOWN	basic|CCDS	protein_coding	ENSA	HGNC	protein_coding	OTTHUMT00000084720.2	-	0	62	0	T	NM_207042		150600027	-1	tier1	-	no_errors	ENST00000369009	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	150600027	T	A	150600027	3	1	41	1	0	0	0	0	1	0	0	0	5152	1606	56	5	469	5	ENSA	1	150600027	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	30664766	150600027	98650594	9	9953											
TCHH	7062	genome.wustl.edu	37	chr1	152086555	152086556	+	Start_Codon_Ins	INS	-	-	T																															gcttctcagaagtggagacaINStttttttttctttccttcaa																								rs141946179	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:152086555_152086556insT	ENST00000368804.1	-	0	0_1					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGTGGAGACATTTTTTTTTCT	0.361																																																	0																																										SO:0001582	initiator_codon_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2dupA	1.37:g.152086564_152086564dupT			Q5VUI3	Frame_Shift_Ins	INS	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.M1fs	ENST00000368804.1	37	c.2_1	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.361	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0	27	0	-	NM_007113		152086556	-1	tier1		no_errors	ENST00000368804	ensembl	human	known	74_37	frame_shift_ins	6.38	44	3	INS	1.000:1.000	T	T	152086556	-	T	152086555	7	5	41	1	0	1	1	0	0	0	0	0	15747	231	8	0	5837	0	TCHH	1	152086555	Start_Codon_Ins	INS	-	TCGA-JY-A938-01A-11D-A37C-09	1486528	152086555	97164066	10	9954											
YY1AP1	55249	genome.wustl.edu	37	chr1	155649228	155649230	+	Missense_Mutation	TNP	CTT	CTT	GAC																															ttgaggggtgttaaagttagCttgaggctcagccacacgct																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C|T|T	C|T|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:155649228_155649230CTT>GAC	ENST00000295566.4	-	4	316_318	c.293_295AAG>GTC	c.(292-297)cAAGct>cGTCct	p.98_99QA>RP	YY1AP1_ENST00000359205.5_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000405763.3_Missense_Mutation_p.170_171QA>RP|YY1AP1_ENST00000368340.5_Missense_Mutation_p.170_171QA>RP|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.32_33QA>RP|YY1AP1_ENST00000361831.5_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000407221.1_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000311573.5_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000438245.2_Missense_Mutation_p.32_33QA>RP|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000368339.5_Missense_Mutation_p.170_171QA>RP|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000404643.1_Missense_Mutation_p.32_33QA>RP|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.32_33QA>RP|YY1AP1_ENST00000355499.4_Missense_Mutation_p.32_33QA>RP	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	98					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTAAAGTTAGCTTGAGGCTCAGC	0.463																																																	0																																										SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.293_295AAG>GTC	1.37:g.155649228CTT>GAC	ENSP00000295566:p.Q98_A99delinsRP		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.A171P|p.Q170H|p.Q170R	ENST00000295566.4	37	c.511|c.510|c.509	CCDS1115.1	1																																																																																			YY1AP1	-	NULL	ENSG00000163374		0.463	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1		0	61|61|59	0	C|T|T	NM_139118		155649228|155649229|155649230	-1			no_errors	ENST00000368339	ensembl	human	known	74_37	missense	13.64|13.51|13.51	95|96|96	15	SNP	1.000|0.998|0.993	G|A|C	GAC	155649230	CTT	GAC	155649228	3	3	41	1	0	0	0	0	1	0	0	0	17557	797	28	5	2187	5	YY1AP1	1	155649228	Missense_Mutation	TNP	CTT	TCGA-JY-A938-01A-11D-A37C-09	3562673	155649228	93601393	11	9955											
GON4L	54856	genome.wustl.edu	37	chr1	155753818	155753818	+	Silent	SNP	T	T	C																															aagttaggacgaggctcagcTacacactcctcctcttctgg																								rs150709993		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:155753818T>C	ENST00000368331.1	-	14	1899	c.1851A>G	c.(1849-1851)gtA>gtG	p.V617V	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.V617V|GON4L_ENST00000271883.5_Silent_p.V617V|GON4L_ENST00000361040.5_Silent_p.V617V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	617					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGGCTCAGCTACACACTCCT	0.468																																																	0								T	,	1,4405	2.1+/-5.4	0,1,2202	183	143	156		1851,1851	2.7	1	1	dbSNP_134	156	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GON4L	NM_001037533.1,NM_032292.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	617/2241,617/1530	155753818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1851A>G	1.37:g.155753818T>C			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.V617	ENST00000368331.1	37	c.1851		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	88	0	T	NM_032292		155753818	-1	tier1	rs150709993	no_errors	ENST00000368331	ensembl	human	known	74_37	silent	5.68	166	10	SNP	0.973	C	C	155753818	T	C	155753818	2	2	41	1	0	0	0	0	0	0	0	1	6598	1509	53	4		4	GON4L	1	155753818	Silent	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	104590	155753818	93496803	12	9956	38	2									
GON4L	54856	genome.wustl.edu	37	chr1	155753823	155753823	+	Missense_Mutation	SNP	A	A	G																															aggacgaggctcagctacacActcctcctcttctgggccat																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:155753823A>G	ENST00000368331.1	-	14	1894	c.1846T>C	c.(1846-1848)Tgt>Cgt	p.C616R	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.C616R|GON4L_ENST00000271883.5_Missense_Mutation_p.C616R|GON4L_ENST00000361040.5_Missense_Mutation_p.C616R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	616					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCAGCTACACACTCCTCCTCT	0.478																																																	0													185	145	158					1																	155753823		2203	4300	6503	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1846T>C	1.37:g.155753823A>G	ENSP00000357315:p.Cys616Arg		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.C616R	ENST00000368331.1	37	c.1846		1	.	.	.	.	.	.	.	.	.	.	G	1.557	-0.537822	0.04082	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.10477	3.07;3.07;3.07;2.87	4.57	2.54	0.30619	.	0.601232	0.17447	N	0.173907	T	0.00524	0.0017	N	0.00308	-1.67	0.33368	D	0.573202	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.46470	-0.9189	10	0.02654	T	1	.	4.2789	0.10822	0.1928:0.0:0.5586:0.2486	.	396;616;616;616;616	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	R	616;616;616;616;616;95	ENSP00000396117:C616R;ENSP00000357315:C616R;ENSP00000271883:C616R;ENSP00000354322:C616R	ENSP00000271883:C616R	C	-	1	0	GON4L	154020447	0.002000	0.14202	0.991000	0.47740	0.970000	0.65996	1.136000	0.31467	0.675000	0.31264	-0.186000	0.12905	TGT	GON4L	-	NULL	ENSG00000116580		0.478	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	87	0	A	NM_032292		155753823	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	5.65	167	10	SNP	0.972	G	G	155753823	A	G	155753823	3	3	41	1	0	0	0	0	1	0	0	0	6598	159	6	4	5069	4	GON4L	1	155753823	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	5	155753823	93496798	13	9957	38	2									
C1orf92	149499	genome.wustl.edu	37	chr1	156902288	156902288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagatgcagttctccaaggCcaagagtgcatccaagggtc	11	8	11	11	0	2	2	1	0	1	2	5	2	3	2	3	2	2	3	3	2	3	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:156902288C>T	ENST00000337428.7	+	14	1668	c.1514C>T	c.(1513-1515)gCc>gTc	p.A505V	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	505										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TTCTCCAAGGCCAAGAGTGCA	0.597																																																	0													67	78	75					1																	156902288		2147	4266	6413	SO:0001583	missense	0			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 92"	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1514C>T	1.37:g.156902288C>T	ENSP00000336661:p.Ala505Val		Q96M24	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A505V	ENST00000337428.7	37	c.1514	CCDS44249.1	1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217482	0.22373	.	.	ENSG00000160838	ENST00000337428	T	0.19394	2.15	5.01	4.08	0.47627	.	1.191030	0.06123	N	0.669202	T	0.04092	0.0114	N	0.19112	0.55	0.23876	N	0.996593	B;B	0.19817	0.039;0.002	B;B	0.19391	0.025;0.005	T	0.24012	-1.0172	10	0.02654	T	1	-1.5002	11.928	0.52831	0.1744:0.8256:0.0:0.0	.	505;291	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	V	505	ENSP00000336661:A505V	ENSP00000336661:A505V	A	+	2	0	LRRC71	155168912	0.009000	0.17119	0.962000	0.40283	0.937000	0.57800	1.291000	0.33330	1.276000	0.44395	0.563000	0.77884	GCC	LRRC71	-	NULL	ENSG00000160838		0.597	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	-	0	41	0	C	NM_144702		156902288	1	tier1	-	no_errors	ENST00000337428	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.952	T	T	156902288	C	T	156902288	3	4	41	1	0	0	0	0	1	0	0	0	2076	739	26	3	1568	3	C1orf92	1	156902288	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1148465	156902288	92348333	14	9958											
SPTA1	6708	genome.wustl.edu	37	chr1	158654912	158654912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgacctgtatattagttgGgtcttcatagctcttatcgg	8	16	10	7	1	3	1	1	1	2	0	4	1	3	1	1	2	1	3	1	2	5	7			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:158654912G>T	ENST00000368147.4	-	2	430	c.250C>A	c.(250-252)Cca>Aca	p.P84T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	84					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATATTAGTTGGGTCTTCATAG	0.393																																																	0													117	111	113					1																	158654912		1893	4122	6015	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.250C>A	1.37:g.158654912G>T	ENSP00000357129:p.Pro84Thr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.P84T	ENST00000368147.4	37	c.250	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272711	0.59649	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50548	0.74;0.74	5.18	3.28	0.37604	.	0.000000	0.31989	N	0.006757	T	0.35566	0.0936	M	0.74546	2.27	0.44366	D	0.997262	B	0.19200	0.034	B	0.36808	0.233	T	0.21965	-1.0230	10	0.29301	T	0.29	.	9.5878	0.39528	0.0782:0.1428:0.779:0.0	.	84	P02549	SPTA1_HUMAN	T	84	ENSP00000357130:P84T;ENSP00000357129:P84T	ENSP00000357129:P84T	P	-	1	0	SPTA1	156921536	1.000000	0.71417	0.094000	0.20943	0.679000	0.39708	7.097000	0.76967	0.747000	0.32809	0.467000	0.42956	CCA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	55	0	G	NM_003126		158654912	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	19.18	59	14	SNP	1.000	T	T	158654912	G	T	158654912	3	4	41	1	0	0	0	0	1	0	0	0	15163	1232	43	3	7213	3	SPTA1	1	158654912	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1752624	158654912	90595709	15	9959											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161022154	161022154	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccttgttggatttatcctCtgtaagacagggatgtgtgt	7	15	11	8	0	1	1	0	0	1	1	2	3	2	3	3	2	0	2	3	2	2	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:161022154C>T	ENST00000368013.3	-	9	1261		c.e9-1		ARHGAP30_ENST00000368016.3_Splice_Site|ARHGAP30_ENST00000368015.1_Splice_Site	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTTATCCTCTGTAAGACAG	0.582																																																	0													194	173	180					1																	161022154		2203	4300	6503	SO:0001630	splice_region_variant	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.941-1G>A	1.37:g.161022154C>T			Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Splice_Site	SNP	-	e9-1	ENST00000368013.3	37	c.941-1	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664417	0.67700	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1306	0.36843	0.0:0.8982:0.0:0.1018	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP30	159288778	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.365000	0.52335	2.309000	0.77851	0.555000	0.69702	.	ARHGAP30	-	-	ENSG00000186517		0.582	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	-	0	22	0	C	NM_181720	Intron	161022154	-1	tier1	-	no_errors	ENST00000368013	ensembl	human	known	74_37	splice_site	17.07	34	7	SNP	1.000	T	T	161022154	C	T	161022154	5	4	41	1	0	0	0	0	0	0	1	0	879	927	32	3	2381	3	ARHGAP30	1	161022154	Splice_Site	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	2367242	161022154	88228467	16	9960											
RGS4	5999	genome.wustl.edu	37	chr1	163042211	163042211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatatgaaacatcggctagGtttcctgctgcaaaaatctg	13	11	9	8	1	1	2	0	1	1	1	3	2	2	2	1	2	3	4	1	2	5	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:163042211G>T	ENST00000367909.6	+	2	411	c.71G>T	c.(70-72)gGt>gTt	p.G24V	RGS4_ENST00000531057.1_Missense_Mutation_p.G24V|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Missense_Mutation_p.G24V|RGS4_ENST00000367906.3_Missense_Mutation_p.G6V|RGS4_ENST00000421743.2_Missense_Mutation_p.G121V|RGS4_ENST00000527809.1_Missense_Mutation_p.G6V	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	24					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CATCGGCTAGGTTTCCTGCTG	0.378																																					Ovarian(76;1257 1738 3039 6086)												0													73	71	72					1																	163042211		2203	4300	6503	SO:0001583	missense	0			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.71G>T	1.37:g.163042211G>T	ENSP00000356885:p.Gly24Val		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G121V	ENST00000367909.6	37	c.362	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130377	0.56721	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000527809;ENST00000367908;ENST00000367906;ENST00000528938	T;T;D;T;T;T	0.86694	0.54;0.61;-2.16;0.39;0.39;0.01	4.52	3.59	0.41128	.	0.056421	0.64402	D	0.000001	D	0.91744	0.7389	M	0.85197	2.74	0.49798	D	0.999828	D;P;D	0.89917	0.996;0.609;1.0	P;B;D	0.91635	0.906;0.254;0.999	D	0.93049	0.6464	9	0.87932	D	0	.	12.2097	0.54373	0.0:0.1736:0.8264:0.0	.	24;24;121	B1APZ3;P49798;A7XA59	.;RGS4_HUMAN;.	V	121;24;24;6;24;6;6	ENSP00000397181:G121V;ENSP00000356885:G24V;ENSP00000436106:G24V;ENSP00000433261:G6V;ENSP00000356882:G6V;ENSP00000432194:G6V	ENSP00000356882:G6V	G	+	2	0	RGS4	161308835	0.997000	0.39634	0.556000	0.28293	0.937000	0.57800	2.731000	0.47343	1.083000	0.41159	0.655000	0.94253	GGT	RGS4	-	NULL	ENSG00000117152		0.378	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	-	0	37	0	G	NM_005613		163042211	1	tier1	-	no_errors	ENST00000421743	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.874	T	T	163042211	G	T	163042211	3	4	41	1	0	0	0	0	1	0	0	0	13352	1261	44	3	372	3	RGS4	1	163042211	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2020057	163042211	86208410	17	9961											
FMO4	2329	genome.wustl.edu	37	chr1	171293316	171293316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaagcgtccagacttctccGaaactggtcagtgggatgtt	9	10	12	10	3	2	1	1	0	1	1	4	4	3	2	2	2	2	1	2	2	2	2	rs142319717	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:171293316G>A	ENST00000367749.3	+	5	691	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	121					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGACTTCTCCGAAACTGGTCA	0.468																																					Pancreas(24;816 862 7754 7993 32832)												0								G	LYS/GLU	0,4406		0,0,2203	364	340	348		361	0.2	0	1	dbSNP_134	348	1,8599	1.2+/-3.3	0,1,4299	no	missense	FMO4	NM_002022.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	121/559	171293316	1,13005	2203	4300	6503	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.361G>A	1.37:g.171293316G>A	ENSP00000356723:p.Glu121Lys		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.E121K	ENST00000367749.3	37	c.361	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	G	0.858	-0.736106	0.03111	0.0	1.16E-4	ENSG00000076258	ENST00000367749	T	0.52983	0.64	5.69	0.193	0.15139	.	1.342490	0.04388	N	0.361873	T	0.10252	0.0251	N	0.25060	0.705	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.11591	-1.0581	10	0.07325	T	0.83	-3.1329	6.4096	0.21684	0.435:0.0:0.4525:0.1126	.	121	P31512	FMO4_HUMAN	K	121	ENSP00000356723:E121K	ENSP00000356723:E121K	E	+	1	0	FMO4	169559940	0.000000	0.05858	0.018000	0.16275	0.288000	0.27193	-0.612000	0.05616	-0.216000	0.10048	-0.982000	0.02568	GAA	FMO4	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase	ENSG00000076258		0.468	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	-	0	33	0	G	NM_002022		171293316	1	tier1	rs142319717	no_errors	ENST00000367749	ensembl	human	known	74_37	missense	20.73	65	17	SNP	0.000	A	A	171293316	G	A	171293316	3	1	41	1	0	0	0	0	1	0	0	0	5979	1059	37	1	371	1	FMO4	1	171293316	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	8251105	171293316	77957305	18	9962											
C1orf105	92346	genome.wustl.edu	37	chr1	172425596	172425596	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatgctgctcagaaaccaAcagctgtgctccacatgtca	11	9	7	14	0	2	1	2	0	0	1	4	1	4	1	3	0	6	4	3	0	2	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:172425596A>C	ENST00000367727.4	+	4	438	c.240A>C	c.(238-240)caA>caC	p.Q80H	C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Missense_Mutation_p.Q70H	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	80										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TCAGAAACCAACAGCTGTGCT	0.542																																																	0													129	123	125					1																	172425596		2203	4300	6503	SO:0001583	missense	0			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.240A>C	1.37:g.172425596A>C	ENSP00000356700:p.Gln80His		Q8IY02	Missense_Mutation	SNP	NULL	p.Q80H	ENST00000367727.4	37	c.240	CCDS1301.1	1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357047	0.24598	.	.	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	T;T;T	0.33654	1.4;1.4;1.4	3.4	1.33	0.21861	.	0.573562	0.14498	N	0.315923	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	1	P	0.43094	0.799	B	0.34931	0.192	T	0.13737	-1.0498	10	0.66056	D	0.02	-1.5248	4.0111	0.09623	0.1277:0.0:0.642:0.2303	.	80	O95561	CA105_HUMAN	H	80;51;70	ENSP00000356700:Q80H;ENSP00000431442:Q51H;ENSP00000356698:Q70H	ENSP00000356698:Q70H	Q	+	3	2	C1orf105	170692219	0.550000	0.26489	0.041000	0.18516	0.048000	0.14542	1.363000	0.34159	0.398000	0.25338	-1.499000	0.00960	CAA	C1orf105	-	NULL	ENSG00000180999		0.542	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	HGNC	protein_coding	OTTHUMT00000084062.2	-	0	42	0	A	NM_139240		172425596	1	tier1	-	no_errors	ENST00000367727	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.109	C	C	172425596	A	C	172425596	3	2	41	1	0	0	0	0	1	0	0	0	1986	40	2	4	254	4	C1orf105	1	172425596	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	1132280	172425596	76825025	19	9963											
MRPS14	63931	genome.wustl.edu	37	chr1	174983880	174983880	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagactatacgactaagcctCcagcgccgcttcacaccacg	12	6	7	16	4	1	1	1	0	0	1	2	2	2	1	4	0	3	1	4	0	4	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:174983880C>A	ENST00000476371.1	-	3	328	c.312G>T	c.(310-312)tgG>tgT	p.W104C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						GACTAAGCCTCCAGCGCCGCT	0.527																																																	0													138	130	133					1																	174983880		2203	4300	6503	SO:0001583	missense	0			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"Mitochondrial ribosomal proteins / small subunits"	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.312G>T	1.37:g.174983880C>A	ENSP00000420714:p.Trp104Cys			Missense_Mutation	SNP	pfam_Ribosomal_S14	p.W104C	ENST00000476371.1	37	c.312	CCDS1316.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450630	0.84101	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	L	0.53249	1.67	0.80722	D	1	B	0.31893	0.345	B	0.43728	0.429	T	0.72327	-0.4327	9	0.87932	D	0	-13.4543	20.8794	0.99867	0.0:1.0:0.0:0.0	.	104	O60783	RT14_HUMAN	C	104	.	ENSP00000420714:W104C	W	-	3	0	MRPS14	173250503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.941000	0.99782	0.655000	0.94253	TGG	MRPS14	-	pfam_Ribosomal_S14	ENSG00000120333		0.527	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS14	HGNC	protein_coding	OTTHUMT00000084416.2	-	0	36	0	C	NM_022100		174983880	-1	tier1	-	no_errors	ENST00000476371	ensembl	human	known	74_37	missense	11.54	69	9	SNP	1.000	A	A	174983880	C	A	174983880	3	1	41	1	0	0	0	0	1	0	0	0	9862	856	30	3	78	3	MRPS14	1	174983880	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	2558284	174983880	74266741	20	9964											
CEP350	9857	genome.wustl.edu	37	chr1	179989371	179989371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagccaatataagagtaAactggatcgtattgaagcct	14	10	9	8	1	0	2	0	1	0	1	1	3	0	3	3	1	4	2	3	1	7	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:179989371A>G	ENST00000367607.3	+	12	2880	c.2462A>G	c.(2461-2463)aAa>aGa	p.K821R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	821					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATAAGAGTAAACTGGATCGT	0.433																																																	0													129	136	133					1																	179989371		2203	4300	6503	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2462A>G	1.37:g.179989371A>G	ENSP00000356579:p.Lys821Arg		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K821R	ENST00000367607.3	37	c.2462	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.908194	0.72868	.	.	ENSG00000135837	ENST00000367607	T	0.20332	2.08	6.02	6.02	0.97574	.	0.000000	0.51477	D	0.000081	T	0.36936	0.0985	L	0.36672	1.1	0.49687	D	0.99981	D;D	0.89917	1.0;0.999	D;D	0.77557	0.96;0.99	T	0.03077	-1.1075	9	.	.	.	.	16.2061	0.82131	1.0:0.0:0.0:0.0	.	821;821	E7EU22;Q5VT06	.;CE350_HUMAN	R	821	ENSP00000356579:K821R	.	K	+	2	0	CEP350	178255994	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.735000	0.74806	2.311000	0.77944	0.533000	0.62120	AAA	CEP350	-	NULL	ENSG00000135837		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0	16	0	A	NM_014810		179989371	1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	G	G	179989371	A	G	179989371	3	3	41	1	0	0	0	0	1	0	0	0	3261	14	1	4	2504	4	CEP350	1	179989371	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	5005491	179989371	69261250	21	9965											
USH2A	7399	genome.wustl.edu	37	chr1	216017824	216017824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgacaacctctggaggaaGcatgccctgaggctctagaa	12	7	12	10	0	2	3	0	2	2	1	2	6	2	5	2	3	3	2	2	3	4	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:216017824G>A	ENST00000307340.3	-	46	9456	c.9070C>T	c.(9070-9072)Ctt>Ttt	p.L3024F	USH2A_ENST00000366943.2_Missense_Mutation_p.L3024F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3024	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGGAGGAAGCATGCCCTGA	0.403										HNSCC(13;0.011)																																							0													65	67	66					1																	216017824		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9070C>T	1.37:g.216017824G>A	ENSP00000305941:p.Leu3024Phe		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L3024F	ENST00000307340.3	37	c.9070	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	1.977	-0.435034	0.04669	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55930	0.49;0.49	6.04	3.19	0.36642	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.386459	0.18692	N	0.133824	T	0.25269	0.0614	N	0.05510	-0.035	0.25057	N	0.991097	B	0.02656	0.0	B	0.04013	0.001	T	0.18745	-1.0327	10	0.09843	T	0.71	.	6.1074	0.20081	0.436:0.0:0.564:0.0	.	3024	O75445	USH2A_HUMAN	F	3024	ENSP00000305941:L3024F;ENSP00000355910:L3024F	ENSP00000305941:L3024F	L	-	1	0	USH2A	214084447	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	3.574000	0.53863	0.907000	0.36646	-0.142000	0.14014	CTT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	29	0	G	NM_007123		216017824	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.972	A	A	216017824	G	A	216017824	3	1	41	1	0	0	0	0	1	0	0	0	17085	971	34	3	6646	3	USH2A	1	216017824	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	36028453	216017824	33232797	22	9966											
C1orf115	79762	genome.wustl.edu	37	chr1	220863885	220863885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgcggacgaggcggaggcGgcggccgagagcgggacgag	8	1	22	10	9	0	1	0	0	0	1	0	7	0	4	1	7	2	0	1	7	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:220863885G>A	ENST00000294889.5	+	1	699	c.141G>A	c.(139-141)gcG>gcA	p.A47A		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	47						integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		AGGCGGAGGCGGCGGCCGAGA	0.796																																																	0													2	2	2					1																	220863885		1363	2591	3954	SO:0001819	synonymous_variant	0			AK024208	CCDS1524.1	1q41	2008-02-05			ENSG00000162817	ENSG00000162817			25873	protein-coding gene	gene with protein product						12477932	Standard	NM_024709		Approved	FLJ14146	uc001hmp.1	Q9H7X2	OTTHUMG00000037361	ENST00000294889.5:c.141G>A	1.37:g.220863885G>A			B3KRN3|D3DTB2	Silent	SNP	NULL	p.A47	ENST00000294889.5	37	c.141	CCDS1524.1	1																																																																																			C1orf115	-	NULL	ENSG00000162817		0.796	C1orf115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf115	HGNC	protein_coding	OTTHUMT00000090922.3	-	0	9	0	G	NM_024709		220863885	1	tier1	-	no_errors	ENST00000294889	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.000	A	A	220863885	G	A	220863885	2	1	41	1	0	0	0	0	0	0	0	1	1995	1103	39	1		1	C1orf115	1	220863885	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	4846061	220863885	28386736	23	9967											
GALNT2	2590	genome.wustl.edu	37	chr1	230203084	230203084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgtgggtgctgggcatCgcctactacatgtactcggg	5	12	13	11	2	0	0	0	0	0	0	3	0	1	0	2	3	4	3	2	3	3	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:230203084C>T	ENST00000366672.4	+	1	129	c.57C>T	c.(55-57)atC>atT	p.I19I	GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	19					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGCTGGGCATCGCCTACTACA	0.766																																																	0													6	5	5					1																	230203084		2005	3953	5958	SO:0001819	synonymous_variant	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.57C>T	1.37:g.230203084C>T			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I19	ENST00000366672.4	37	c.57	CCDS1582.1	1																																																																																			GALNT2	-	NULL	ENSG00000143641		0.766	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1		0	11	0	C	NM_004481		230203084	1			no_errors	ENST00000366672	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.999	T	T	230203084	C	T	230203084	2	4	41	1	0	0	0	0	0	0	0	1	6238	874	31	1		1	GALNT2	1	230203084	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	9339199	230203084	19047537	24	9968											
C1orf198	84886	genome.wustl.edu	37	chr1	230979141	230979141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacagggtgtcttccccatCgtcctgcctgacatcaggag	8	9	11	13	1	2	1	1	1	1	0	5	3	4	2	4	2	2	0	4	2	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:230979141C>T	ENST00000366663.5	-	3	1026	c.886G>A	c.(886-888)Gat>Aat	p.D296N	C1orf198_ENST00000470540.1_Missense_Mutation_p.D258N|C1orf198_ENST00000523410.1_Missense_Mutation_p.D166N|C1orf198_ENST00000427697.2_Missense_Mutation_p.D79N	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	296						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCTTCCCCATCGTCCTGCCTG	0.612																																																	0													59	58	59					1																	230979141		2201	4290	6491	SO:0001583	missense	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.886G>A	1.37:g.230979141C>T	ENSP00000355623:p.Asp296Asn		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.D296N	ENST00000366663.5	37	c.886	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106888	0.77096	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000427697;ENST00000523410	T;T;T;T	0.39056	1.23;1.22;1.12;1.1	4.35	4.35	0.52113	.	0.421367	0.25250	N	0.032023	T	0.35856	0.0946	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	B	0.44044	0.439	T	0.30001	-0.9993	10	0.62326	D	0.03	-9.934	15.036	0.71748	0.0:1.0:0.0:0.0	.	296	Q9H425	CA198_HUMAN	N	296;258;79;166	ENSP00000355623:D296N;ENSP00000428172:D258N;ENSP00000411384:D79N;ENSP00000430967:D166N	ENSP00000355623:D296N	D	-	1	0	C1orf198	229045764	0.322000	0.24634	0.022000	0.16811	0.191000	0.23601	3.345000	0.52182	1.967000	0.57214	0.462000	0.41574	GAT	C1orf198	-	NULL	ENSG00000119280		0.612	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	-	0	30	0	C	NM_032800		230979141	-1	tier1	-	no_errors	ENST00000366663	ensembl	human	known	74_37	missense	21.92	57	16	SNP	0.132	T	T	230979141	C	T	230979141	3	4	41	1	0	0	0	0	1	0	0	0	2033	884	31	1	105	1	C1orf198	1	230979141	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	776057	230979141	18271480	25	9969											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232615466	232615466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatagagagagtgcgtgccCgtggaatcagctgaaaacaa	14	7	13	7	2	1	3	1	1	0	2	1	5	1	4	1	1	4	2	1	1	6	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:232615466C>T	ENST00000366630.1	-	6	2350	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	SIPA1L2_ENST00000262861.4_Silent_p.T664T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	664	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGTGCGTGCCCGTGGAATCAG	0.413																																																	0													149	160	157					1																	232615466		2090	4254	6344	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1992G>A	1.37:g.232615466C>T			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.T664	ENST00000366630.1	37	c.1992	CCDS41474.1	1																																																																																			SIPA1L2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000116991		0.413	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0	62	0	C	XM_045839		232615466	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	silent	21.18	67	18	SNP	0.014	T	T	232615466	C	T	232615466	2	4	41	1	0	0	0	0	0	0	0	1	14375	639	23	1		1	SIPA1L2	1	232615466	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1636325	232615466	16635155	26	9970											
GNG4	2786	genome.wustl.edu	37	chr1	235715520	235715520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtaggccaggaggtcCgcagctgcctgggagacctg	8	6	15	12	1	1	1	1	0	0	1	2	3	2	2	4	4	2	3	4	4	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:235715520C>T	ENST00000366598.4	-	3	332	c.117G>A	c.(115-117)gcG>gcA	p.A39A	GNG4_ENST00000391854.2_Silent_p.A39A|GNG4_ENST00000450593.1_Silent_p.A39A|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Silent_p.A39A			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	39					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CCAGGAGGTCCGCAGCTGCCT	0.557																																																	0													98	97	97					1																	235715520		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.117G>A	1.37:g.235715520C>T				Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.A39	ENST00000366598.4	37	c.117	CCDS1607.1	1																																																																																			GNG4	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	ENSG00000168243		0.557	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNG4	HGNC	protein_coding	OTTHUMT00000097906.1	-	0	28	0	C	NM_004485		235715520	-1	tier1	-	no_errors	ENST00000366597	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.000	T	T	235715520	C	T	235715520	2	4	41	1	0	0	0	0	0	0	0	1	6555	639	23	1		1	GNG4	1	235715520	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	3100054	235715520	13535101	27	9971											
FMN2	56776	genome.wustl.edu	37	chr1	240370345	240370345	+	Frame_Shift_Del	DEL	C	C	-																															ttttagaggcgaaatcgataCagacttcccccacggaagag																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:240370345delC	ENST00000319653.9	+	5	2463	c.2233delC	c.(2233-2235)cagfs	p.Q745fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	745					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAATCGATACAGACTTCCCC	0.567																																																	0													50	49	49					1																	240370345		2203	4300	6503	SO:0001589	frameshift_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2233delC	1.37:g.240370345delC	ENSP00000318884:p.Gln745fs		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.Q745fs	ENST00000319653.9	37	c.2233	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.567	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	21	0	C	XM_371352		240370345	1	tier1		no_errors	ENST00000319653	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	1.000	-	-	240370345	C	-	240370345	7	5	41	1	0	1	0	1	0	0	0	0	5972	479	17	0	2251	0	FMN2	1	240370345	Frame_Shift_Del	DEL	C	TCGA-JY-A938-01A-11D-A37C-09	4654825	240370345	8880276	28	9972											
FMN2	56776	genome.wustl.edu	37	chr1	240371125	240371125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctccgcccccacttcccGgagcgggcataccccctcct	4	6	7	24	3	0	0	0	0	0	0	3	1	3	1	9	2	2	1	9	2	1	2	rs534635159	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:240371125G>A	ENST00000319653.9	+	5	3243	c.3013G>A	c.(3013-3015)Gga>Aga	p.G1005R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1005	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCACTTCCCGGAGCGGGCAT	0.721																																																	0													3	5	4					1																	240371125		1555	3505	5060	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3013G>A	1.37:g.240371125G>A	ENSP00000318884:p.Gly1005Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G1005R	ENST00000319653.9	37	c.3013	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499436	0.26861	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.48	3.48	0.39840	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.624661	0.14051	N	0.344794	D	0.82848	0.5126	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.84366	0.0541	9	.	.	.	.	10.4197	0.44344	0.0976:0.0:0.9024:0.0	.	1005	Q9NZ56	FMN2_HUMAN	R	1005	ENSP00000318884:G1005R	.	G	+	1	0	FMN2	238437748	0.041000	0.20044	0.068000	0.19968	0.007000	0.05969	0.934000	0.28910	1.955000	0.56771	0.479000	0.44913	GGA	FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	45	0	G	XM_371352		240371125	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	26.23	43	16	SNP	0.997	A	A	240371125	G	A	240371125	3	1	41	1	0	0	0	0	1	0	0	0	5972	1117	39	1	3031	1	FMN2	1	240371125	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	780	240371125	8879496	29	9973											
CEP170	9859	genome.wustl.edu	37	chr1	243290001	243290001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcccatgttgttcagaGcctccaaagttccatcagga	12	10	8	11	0	2	1	2	0	0	1	5	3	5	2	4	1	1	3	4	1	2	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:243290001G>T	ENST00000366542.1	-	20	4556	c.4505C>A	c.(4504-4506)gCt>gAt	p.A1502D	CEP170_ENST00000366543.1_Missense_Mutation_p.A1378D|CEP170_ENST00000490813.1_Missense_Mutation_p.A211D|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366544.1_Missense_Mutation_p.A1404D|CEP170_ENST00000481987.1_Missense_Mutation_p.A238D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1502	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTGTTCAGAGCCTCCAAAGT	0.448																																																	0													6	6	6					1																	243290001		1769	3994	5763	SO:0001583	missense	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4505C>A	1.37:g.243290001G>T	ENSP00000355500:p.Ala1502Asp		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.A1502D	ENST00000366542.1	37	c.4505	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.245776|4.245776	0.80024|0.80024	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813|ENST00000336415	T;T;T|.	0.52295|.	0.69;0.67;0.71|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66167|0.66167	0.2762|0.2762	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	0.999;1.0;0.998;0.999|.	D;D;D;D|.	0.87578|.	0.998;0.996;0.991;0.997|.	T|T	0.63703|0.63703	-0.6577|-0.6577	10|5	0.72032|.	D|.	0.01|.	-15.8481|-15.8481	16.9704|16.9704	0.86297|0.86297	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1475;1404;1378;1502|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	D|I	1502;1404;1378;238;437;211|1476	ENSP00000355500:A1502D;ENSP00000355502:A1404D;ENSP00000355501:A1378D|.	ENSP00000355500:A1502D|.	A|L	-|-	2|1	0|0	CEP170|CEP170	241356624|241356624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.510000|7.510000	0.81708|0.81708	2.322000|2.322000	0.78497|0.78497	0.455000|0.455000	0.32223|0.32223	GCT|CTC	CEP170	-	NULL	ENSG00000143702		0.448	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	-	0	45	0	G	NM_014812		243290001	-1	tier1	-	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	T	T	243290001	G	T	243290001	3	4	41	1	0	0	0	0	1	0	0	0	3257	971	34	3	253	3	CEP170	1	243290001	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2918876	243290001	5960620	30	9974											
OR2G2	81470	genome.wustl.edu	37	chr1	247752385	247752385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagacagaaagcattcGggacctgcttctcccacctg	10	7	10	14	1	1	2	0	0	1	2	3	4	1	3	4	2	2	2	4	2	1	2	rs535355641		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:247752385G>T	ENST00000320065.1	+	1	724	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G242W(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAGCATTCGGGACCTGCTT	0.502																																																	1	Substitution - Missense(1)	lung(1)											142	128	133					1																	247752385		2203	4300	6503	SO:0001583	missense	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.724G>T	1.37:g.247752385G>T	ENSP00000326349:p.Gly242Trp		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G242W	ENST00000320065.1	37	c.724	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678624	0.29783	.	.	ENSG00000177489	ENST00000320065	T	0.00137	8.68	4.29	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.429966	0.17073	U	0.188089	T	0.00468	0.0015	M	0.84846	2.72	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.40942	-0.9536	10	0.72032	D	0.01	.	9.6025	0.39612	0.0:0.0:0.6522:0.3478	.	242	Q8NGZ5	OR2G2_HUMAN	W	242	ENSP00000326349:G242W	ENSP00000326349:G242W	G	+	1	0	OR2G2	245819008	0.000000	0.05858	0.863000	0.33907	0.516000	0.34256	0.115000	0.15540	2.206000	0.71126	0.591000	0.81541	GGG	OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000177489		0.502	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	-	0	140	0	G			247752385	1	tier1	-	no_errors	ENST00000320065	ensembl	human	known	74_37	missense	25.10	183	62	SNP	0.000	T	T	247752385	G	T	247752385	3	4	41	1	0	0	0	0	1	0	0	0	11037	1116	39	2	726	2	OR2G2	1	247752385	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	4462384	247752385	1498236	31	9975											
OR2T4	127074	genome.wustl.edu	37	chr1	248525012	248525012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacactggatggtcggatTtcatcctgttgggactcttc	7	13	10	11	1	2	0	1	0	1	0	5	3	3	3	2	4	0	1	2	4	0	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:248525012T>G	ENST00000366475.1	+	1	130	c.130T>G	c.(130-132)Ttc>Gtc	p.F44V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGTCGGATTTCATCCTGTT	0.473																																																	0													143	125	131					1																	248525012		2203	4299	6502	SO:0001583	missense	0			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"GPCR / Class A : Olfactory receptors"	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.130T>G	1.37:g.248525012T>G	ENSP00000355431:p.Phe44Val		Q6IEZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F44V	ENST00000366475.1	37	c.130	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753146	0.49362	.	.	ENSG00000196944	ENST00000366475	T	0.00545	6.67	2.75	2.75	0.32379	.	0.000000	0.47455	D	0.000225	T	0.02083	0.0065	M	0.82517	2.595	0.32743	N	0.507469	D	0.89917	1.0	D	0.97110	1.0	T	0.10590	-1.0623	10	0.87932	D	0	.	10.3628	0.44006	0.0:0.0:0.0:1.0	.	44	Q8NH00	OR2T4_HUMAN	V	44	ENSP00000355431:F44V	ENSP00000355431:F44V	F	+	1	0	OR2T4	246591635	0.924000	0.31332	0.491000	0.27477	0.030000	0.12068	1.459000	0.35234	0.874000	0.35823	0.254000	0.18369	TTC	OR2T4	-	NULL	ENSG00000196944		0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	HGNC	protein_coding	OTTHUMT00000097349.2	-	0	90	0	T	NM_001004696		248525012	1	tier1	-	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	17.97	105	23	SNP	0.985	G	G	248525012	T	G	248525012	3	3	41	1	0	0	0	0	1	0	0	0	11066	1841	64	4	132	4	OR2T4	1	248525012	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	772627	248525012	725609	32	9976											
PXDN	7837	genome.wustl.edu	37	chr2	1683977	1683977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactcaccacagttcagctCttccggggtgatggttgcca	7	10	10	14	1	3	1	2	1	1	0	4	1	4	1	4	3	2	3	4	3	0	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:1683977C>G	ENST00000252804.4	-	7	768	c.718G>C	c.(718-720)Gag>Cag	p.E240Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	240	LRRCT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGTTCAGCTCTTCCGGGGTG	0.577																																																	0													44	47	46					2																	1683977		2187	4285	6472	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.718G>C	2.37:g.1683977C>G	ENSP00000252804:p.Glu240Gln		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.E240Q	ENST00000252804.4	37	c.718	CCDS46221.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	19.62|19.62|19.62	3.861624|3.861624|3.861624	0.71949|0.71949|0.71949	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.57273|.|.	0.63;0.41|.|.	4.64|4.64|4.64	4.64|4.64|4.64	0.57946|0.57946|0.57946	Cysteine-rich flanking region, C-terminal (1);|.|.	0.734639|.|.	0.10269|.|.	U|.|.	0.695054|.|.	T|T|T	0.76933|0.76933|0.76933	0.4057|0.4057|0.4057	M|M|M	0.78801|0.78801|0.78801	2.425|2.425|2.425	0.50632|0.50632|0.50632	D|D|D	0.999882|0.999882|0.999882	P;P|.|.	0.52316|.|.	0.538;0.952|.|.	B;P|.|.	0.49528|.|.	0.382;0.614|.|.	T|T|T	0.78778|0.78778|0.78778	-0.2071|-0.2071|-0.2071	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	-44.4823|-44.4823|-44.4823	17.5839|17.5839|17.5839	0.87976|0.87976|0.87976	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	240;240|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	Q|N|T	240;216|235|163	ENSP00000252804:E240Q;ENSP00000398363:E216Q|.|.	ENSP00000252804:E240Q|.|.	E|K|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1662984|1662984|1662984	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.983000|0.983000|0.983000	0.44433|0.44433|0.44433	0.296000|0.296000|0.296000	0.27459|0.27459|0.27459	7.704000|7.704000|7.704000	0.84595|0.84595|0.84595	2.139000|2.139000|2.139000	0.66308|0.66308|0.66308	0.444000|0.444000|0.444000	0.29173|0.29173|0.29173	GAG|AAG|AGA	PXDN	-	smart_Cys-rich_flank_reg_C	ENSG00000130508		0.577	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1		0	12	0	C	XM_056455		1683977	-1			no_errors	ENST00000252804	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	G	G	1683977	C	G	1683977	3	3	41	1	0	0	0	0	1	0	0	0	12892	922	32	5	3789	5	PXDN	2	1683977	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09		1683977	241515396	33	9977											
KIDINS220	57498	genome.wustl.edu	37	chr2	8871835	8871835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggacttcctcccatcaTcgggctttggttcactatcc	8	12	8	13	1	2	0	2	0	0	0	6	2	5	1	3	3	0	2	3	3	2	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:8871835T>C	ENST00000256707.3	-	30	4512	c.4331A>G	c.(4330-4332)gAt>gGt	p.D1444G	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1425G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D1345G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1425G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1444					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTCCCATCATCGGGCTTTGG	0.463																																																	0													153	147	149					2																	8871835		1876	4101	5977	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4331A>G	2.37:g.8871835T>C	ENSP00000256707:p.Asp1444Gly		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1444G	ENST00000256707.3	37	c.4331	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717084	0.30413	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.66460	-0.21;-0.2;-0.17;-0.2	6.03	6.03	0.97812	.	0.352985	0.33980	N	0.004362	T	0.62575	0.2439	N	0.19112	0.55	0.46981	D	0.999279	B;B;P	0.39920	0.016;0.01;0.695	B;B;P	0.46275	0.066;0.03;0.51	T	0.67329	-0.5698	10	0.72032	D	0.01	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1345;1444;298	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	G	1444;1425;1345;1425	ENSP00000256707:D1444G;ENSP00000411849:D1425G;ENSP00000414923:D1345G;ENSP00000418974:D1425G	ENSP00000256707:D1444G	D	-	2	0	KIDINS220	8789286	1.000000	0.71417	0.185000	0.23176	0.006000	0.05464	5.420000	0.66441	2.308000	0.77769	0.533000	0.62120	GAT	KIDINS220	-	NULL	ENSG00000134313		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0	69	0	T	NM_020738		8871835	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	C	C	8871835	T	C	8871835	3	2	41	1	0	0	0	0	1	0	0	0	8298	1435	50	4	988	4	KIDINS220	2	8871835	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	7187858	8871835	234327538	34	9978											
TAF1B	9014	genome.wustl.edu	37	chr2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A																															aagccctcaaccgggggcttINSaaaaaaaaaaacaatactgg																								rs528368939		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																																	1	Insertion - Frameshift(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs		B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS	pfam_TF_Rrn7	p.N65fs	ENST00000263663.5	37	c.186_187	CCDS33143.1	2																																																																																			TAF1B	-	NULL	ENSG00000115750		0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2		0	13	0	-	NM_005680		9989571	1	tier1		no_errors	ENST00000263663	ensembl	human	known	74_37	frame_shift_ins	25.00	15	5	INS	0.992:0.991	A	A	9989571	-	A	9989570	7	5	41	1	0	1	1	0	0	0	0	0	15567	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-JY-A938-01A-11D-A37C-09	1117735	9989570	233209803	35	9979											
IFT172	26160	genome.wustl.edu	37	chr2	27679395	27679395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaattgtctgcagcgtgGtcaacagcagcttccaggag	10	8	11	12	1	2	0	1	0	1	0	3	1	3	1	2	2	5	3	2	2	2	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:27679395G>A	ENST00000260570.3	-	30	3457	c.3354C>T	c.(3352-3354)gaC>gaT	p.D1118D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1118					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGCAGCGTGGTCAACAGCAG	0.522																																																	0													109	104	106					2																	27679395		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3354C>T	2.37:g.27679395G>A			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.D1118	ENST00000260570.3	37	c.3354	CCDS1755.1	2																																																																																			IFT172	-	NULL	ENSG00000138002		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2		0	31	0	G	NM_015662		27679395	-1			no_errors	ENST00000260570	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	A	A	27679395	G	A	27679395	2	1	41	1	0	0	0	0	0	0	0	1	7584	1252	44	3		3	IFT172	2	27679395	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	17689825	27679395	215519978	36	9980											
GALNT14	79623	genome.wustl.edu	37	chr2	31133876	31133876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacatatctgtatcgaggCagaggtgggatgctatgtgc	10	10	14	7	2	1	1	0	0	1	1	2	4	1	2	0	3	3	3	0	3	4	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:31133876C>A	ENST00000349752.5	-	15	2189	c.1550G>T	c.(1549-1551)tGc>tTc	p.C517F	GALNT14_ENST00000356174.3_Missense_Mutation_p.C484F|GALNT14_ENST00000406653.1_Missense_Mutation_p.C497F|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.C522F|GALNT14_ENST00000420311.2_Missense_Mutation_p.C482F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	517	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTATCGAGGCAGAGGTGGGA	0.507																																																	0													216	178	191					2																	31133876		2203	4300	6503	SO:0001583	missense	0			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"Glycosyltransferase family 2 domain containing"	22946	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 14"	608225	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1550G>T	2.37:g.31133876C>A	ENSP00000288988:p.Cys517Phe		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.C517F	ENST00000349752.5	37	c.1550	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367020	0.61513	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.26	5.26	0.73747	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	T	0.78773	-0.2073	10	0.87932	D	0	.	17.6483	0.88154	0.0:1.0:0.0:0.0	.	482;522;517;497	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	F	517;522;497;484;482	ENSP00000288988:C517F;ENSP00000314500:C522F;ENSP00000385435:C497F;ENSP00000348497:C484F;ENSP00000415514:C482F	ENSP00000314500:C522F	C	-	2	0	GALNT14	30987380	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.945000	0.63568	2.458000	0.83093	0.655000	0.94253	TGC	GALNT14	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000158089		0.507	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	-	0	28	0	C	NM_024572		31133876	-1	tier1	-	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	A	A	31133876	C	A	31133876	3	1	41	1	0	0	0	0	1	0	0	0	6237	710	25	3	112	3	GALNT14	2	31133876	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	3454481	31133876	212065497	37	9981											
CRIM1	51232	genome.wustl.edu	37	chr2	36744519	36744519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactccctccatttgccaCgcccctggaggagaatactt	9	10	8	14	1	0	1	0	0	0	1	2	3	2	2	5	2	3	1	5	2	3	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:36744519C>T	ENST00000280527.2	+	12	2407	c.2040C>T	c.(2038-2040)caC>caT	p.H680H		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	680	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCATTTGCCACGCCCCTGGAG	0.498																																																	0													96	89	91					2																	36744519		2203	4300	6503	SO:0001819	synonymous_variant	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2040C>T	2.37:g.36744519C>T			Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.H680	ENST00000280527.2	37	c.2040	CCDS1783.1	2																																																																																			CRIM1	-	smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000150938		0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2		0	20	0	C	NM_016441		36744519	1			no_errors	ENST00000280527	ensembl	human	known	74_37	silent	10.20	44	5	SNP	0.459	T	T	36744519	C	T	36744519	2	4	41	1	0	0	0	0	0	0	0	1	3880	535	19	1		1	CRIM1	2	36744519	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	5610643	36744519	206454854	38	9982											
NRXN1	9378	genome.wustl.edu	37	chr2	50758384	50758384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctagattgaccgtcagtttCacacgtcctgcgtctagctc	7	12	8	14	3	3	2	2	1	1	1	5	2	4	2	3	0	2	2	3	0	2	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:50758384C>T	ENST00000406316.2	-	11	3804	c.2328G>A	c.(2326-2328)gtG>gtA	p.V776V	NRXN1_ENST00000401669.2_Silent_p.V776V|NRXN1_ENST00000405472.3_Silent_p.V768V|NRXN1_ENST00000402717.3_Silent_p.V768V|NRXN1_ENST00000406859.3_Silent_p.V776V|NRXN1_ENST00000404971.1_Silent_p.V816V|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	776	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGTCAGTTTCACACGTCCTG	0.483																																																	0													69	73	72					2																	50758384		2035	4208	6243	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2328G>A	2.37:g.50758384C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.V768	ENST00000406316.2	37	c.2304	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	40	0	C			50758384	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	silent	20.55	58	15	SNP	1.000	T	T	50758384	C	T	50758384	2	4	41	1	0	0	0	0	0	0	0	1	10704	813	29	3		3	NRXN1	2	50758384	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	14013865	50758384	192440989	39	9983											
TSN	7247	genome.wustl.edu	37	chr2	122522720	122522720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtacagtcgaggctgtCtgtcaacagcgtgactgctg	7	10	13	11	2	2	1	1	1	1	0	3	2	2	1	1	2	4	3	1	2	2	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:122522720C>A	ENST00000389682.3	+	6	711	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	TSN_ENST00000536142.1_Silent_p.V128V|TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.S150Y	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	155					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCGAGGCTGTCTGTCAACAGC	0.507																																																	0													234	238	237					2																	122522720		2203	4300	6503	SO:0001583	missense	0			X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"recombination hotspot associated factor"	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.464C>A	2.37:g.122522720C>A	ENSP00000374332:p.Ser155Tyr		B7Z3X8|Q5U0K7	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.S155Y	ENST00000389682.3	37	c.464	CCDS33284.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310655|4.310655	0.81358|0.81358	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Translin, C-terminal (1);	.|0.103239	.|0.64402	.|D	.|0.000004	T|T	0.67692|0.67692	0.2920|0.2920	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.992	.|D;D	.|0.66497	.|0.927;0.944	T|T	0.69347|0.69347	-0.5169|-0.5169	5|9	.|0.87932	.|D	.|0	.|.	19.1191|19.1191	0.93355|0.93355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|108;155	.|B3KRM8;Q15631	.|.;TSN_HUMAN	M|Y	161|155;121;150	.|.	.|ENSP00000374332:S155Y	L|S	+|+	1|2	2|0	TSN|TSN	122239190|122239190	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.692000|0.692000	0.40212|0.40212	7.463000|7.463000	0.80869|0.80869	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CTG|TCT	TSN	-	pfam_Translin,superfamily_Translin	ENSG00000211460		0.507	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSN	HGNC	protein_coding	OTTHUMT00000330767.1		0	32	0	C	NM_004622		122522720	1			no_errors	ENST00000389682	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	122522720	C	A	122522720	3	1	41	1	0	0	0	0	1	0	0	0	16677	913	32	3	486	3	TSN	2	122522720	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	71764336	122522720	120676653	40	9984											
UBXN4	23190	genome.wustl.edu	37	chr2	136513152	136513152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaagttcagtgtctacTccatctgcgtcatttgaacc	10	13	7	11	1	5	2	3	1	2	1	6	2	6	2	2	0	3	1	2	0	3	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:136513152T>C	ENST00000272638.9	+	5	710	c.399T>C	c.(397-399)acT>acC	p.T133T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	133					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CAGTGTCTACTCCATCTGCGT	0.373																																																	0													93	88	90					2																	136513152		1855	4110	5965	SO:0001819	synonymous_variant	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.399T>C	2.37:g.136513152T>C			A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.T133	ENST00000272638.9	37	c.399	CCDS42761.1	2																																																																																			UBXN4	-	NULL	ENSG00000144224		0.373	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1		0	47	0	T	NM_014607		136513152	1			no_errors	ENST00000272638	ensembl	human	known	74_37	silent	6.35	58	4	SNP	0.964	C	C	136513152	T	C	136513152	2	2	41	1	0	0	0	0	0	0	0	1	16965	1538	54	4		4	UBXN4	2	136513152	Silent	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	13990432	136513152	106686221	41	9985											
LCT	3938	genome.wustl.edu	37	chr2	136566100	136566100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcagccccactccgttttCggtgatgtaaatggggatgt	7	12	13	9	2	1	1	1	1	0	0	3	2	2	2	3	4	1	2	3	4	2	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:136566100C>T	ENST00000264162.2	-	8	3827	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1273	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E1273K(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ACTCCGTTTTCGGTGATGTAA	0.512																																																	1	Substitution - Missense(1)	endometrium(1)											218	190	199					2																	136566100		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3817G>A	2.37:g.136566100C>T	ENSP00000264162:p.Glu1273Lys		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E1273K	ENST00000264162.2	37	c.3817	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267147	0.80469	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.70869	-0.52	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.088582	0.85682	D	0.000000	D	0.90113	0.6911	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.92597	0.6088	10	0.87932	D	0	-21.7443	20.2821	0.98520	0.0:1.0:0.0:0.0	.	1273	P09848	LPH_HUMAN	K	1273;705	ENSP00000264162:E1273K	ENSP00000264162:E1273K	E	-	1	0	LCT	136282570	1.000000	0.71417	0.333000	0.25482	0.351000	0.29236	6.094000	0.71431	2.786000	0.95864	0.563000	0.77884	GAA	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	ENSG00000115850		0.512	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	61	0	C	NM_002299		136566100	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	25.93	59	21	SNP	1.000	T	T	136566100	C	T	136566100	3	4	41	1	0	0	0	0	1	0	0	0	8721	893	31	1	2006	1	LCT	2	136566100	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	52948	136566100	106633273	42	9986											
ZNF804A	91752	genome.wustl.edu	37	chr2	185802007	185802007	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagagaatagttacactgaAaatgctgggaaatatctatt	16	11	9	5	0	1	2	0	1	1	1	1	4	1	3	0	1	2	3	0	1	8	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:185802007A>T	ENST00000302277.6	+	4	2478	c.1884A>T	c.(1882-1884)gaA>gaT	p.E628D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	628							metal ion binding (GO:0046872)	p.E628E(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTACACTGAAAATGCTGGGA	0.343																																																	1	Substitution - coding silent(1)	lung(1)											95	105	102					2																	185802007		2203	4298	6501	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1884A>T	2.37:g.185802007A>T	ENSP00000303252:p.Glu628Asp		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E628D	ENST00000302277.6	37	c.1884	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.172732	0.00315	.	.	ENSG00000170396	ENST00000302277	T	0.04917	3.53	5.51	-5.49	0.02584	.	0.402035	0.21352	N	0.075954	T	0.00875	0.0029	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34551	-0.9824	10	0.02654	T	1	-10.3009	2.118	0.03719	0.1088:0.1928:0.3346:0.3639	.	628	Q7Z570	Z804A_HUMAN	D	628	ENSP00000303252:E628D	ENSP00000303252:E628D	E	+	3	2	ZNF804A	185510252	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	-0.841000	0.04359	-0.830000	0.04262	-1.133000	0.01973	GAA	ZNF804A	-	NULL	ENSG00000170396		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	39	0	A	NM_194250		185802007	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	13.79	50	8	SNP	0.001	T	T	185802007	A	T	185802007	3	4	41	1	0	0	0	0	1	0	0	0	18218	11	1	5	1898	5	ZNF804A	2	185802007	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	49235907	185802007	57397366	43	9987											
COL5A2	1290	genome.wustl.edu	37	chr2	189928716	189928716	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattacttaccaaaggtccaAgttttccttcaggaccttga	12	13	6	10	0	1	1	1	1	0	0	3	2	3	2	4	2	2	1	4	2	5	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:189928716A>C	ENST00000374866.3	-	26	2034	c.1760T>G	c.(1759-1761)cTt>cGt	p.L587R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	587					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAAAGGTCCAAGTTTTCCTTC	0.328																																																	0													80	83	82					2																	189928716		2203	4300	6503	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1760T>G	2.37:g.189928716A>C	ENSP00000364000:p.Leu587Arg		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L587R	ENST00000374866.3	37	c.1760	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216846	0.39201	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93366	-3.21	5.35	5.35	0.76521	.	0.000000	0.43416	D	0.000574	T	0.81908	0.4922	N	0.02103	-0.685	0.37977	D	0.933474	B;B	0.32653	0.379;0.21	B;B	0.38921	0.12;0.285	T	0.80623	-0.1300	9	.	.	.	.	7.9645	0.30091	0.8474:0.0:0.1526:0.0	.	227;587	Q5PR22;P05997	.;CO5A2_HUMAN	R	587;227	ENSP00000364000:L587R	.	L	-	2	0	COL5A2	189636961	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.338000	0.52128	2.026000	0.59711	0.482000	0.46254	CTT	COL5A2	-	NULL	ENSG00000204262		0.328	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0	72	0	A	NM_000393		189928716	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	17.31	86	18	SNP	1.000	C	C	189928716	A	C	189928716	3	2	41	1	0	0	0	0	1	0	0	0	3704	72	3	4	2855	4	COL5A2	2	189928716	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	4126709	189928716	53270657	44	9988											
ERBB4	2066	genome.wustl.edu	37	chr2	212566891	212566891	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggataagcaaggacaggccActaaggagggggaagtgaga	16	3	17	5	0	0	1	0	1	0	1	0	6	0	5	1	6	1	1	1	6	4	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:212566891A>C	ENST00000342788.4	-	12	1600	c.1290T>G	c.(1288-1290)agT>agG	p.S430R	ERBB4_ENST00000436443.1_Splice_Site_p.S430R|ERBB4_ENST00000402597.1_Splice_Site_p.S430R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	430					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AGGACAGGCCACTAAGGAGGG	0.418										TSP Lung(8;0.080)																																							0													90	85	86					2																	212566891		2203	4300	6503	SO:0001630	splice_region_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1290-1T>G	2.37:g.212566891A>C			B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S430R	ENST00000342788.4	37	c.1290	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.48|12.48	1.950383|1.950383	0.34377|0.34377	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.79554|.	-1.28;-1.28;-1.28|.	5.71|5.71	3.37|3.37	0.38596|0.38596	EGF receptor, L domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40767|0.40767	0.1130|0.1130	N|N	0.20986|0.20986	0.625|0.625	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B;P;P|.	0.44776|.	0.811;0.089;0.201;0.811;0.843|.	P;B;B;P;P|.	0.49192|.	0.467;0.051;0.17;0.467;0.602|.	T|T	0.12967|0.12967	-1.0527|-1.0527	10|5	0.33141|.	T|.	0.24|.	.|.	8.6891|8.6891	0.34256|0.34256	0.7897:0.0:0.2103:0.0|0.7897:0.0:0.2103:0.0	.|.	430;430;289;430;430|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	R|G	430|430	ENSP00000342235:S430R;ENSP00000403204:S430R;ENSP00000385565:S430R|.	ENSP00000342235:S430R|.	S|V	-|-	3|2	2|0	ERBB4|ERBB4	212275136|212275136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.402000|1.402000	0.34600|0.34600	1.003000|1.003000	0.39130|0.39130	0.528000|0.528000	0.53228|0.53228	AGT|GTG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.418	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	28	0	A	NM_001042599	Missense_Mutation	212566891	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	23.33	46	14	SNP	1.000	C	C	212566891	A	C	212566891	5	2	41	1	0	0	0	0	0	0	1	0	5225	173	6	4	2704	4	ERBB4	2	212566891	Splice_Site	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	22638175	212566891	30632482	45	9989											
CHPF	79586	genome.wustl.edu	37	chr2	220406468	220406468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagttgttgcagcagcatgCgcgacagcagcaccccaaag	11	5	12	13	2	0	0	0	0	0	0	0	1	0	0	2	0	6	8	2	0	1	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:220406468C>T	ENST00000243776.6	-	2	1006	c.758G>A	c.(757-759)cGc>cAc	p.R253H	TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.R253H|TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.R91H	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	253					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCAGCATGCGCGACAGCAG	0.692											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	17	17					2																	220406468		2200	4295	6495	SO:0001583	missense	0			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.758G>A	2.37:g.220406468C>T	ENSP00000243776:p.Arg253His	2266	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.R253H	ENST00000243776.6	37	c.758	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.331520	0.95733	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.18657	2.2;2.38	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.52245	-0.8601	10	0.62326	D	0.03	-22.9791	17.5119	0.87762	0.0:1.0:0.0:0.0	.	253;253	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	H	253;91;253	ENSP00000243776:R253H;ENSP00000445571:R91H	ENSP00000243776:R253H	R	-	2	0	CHPF	220114712	1.000000	0.71417	0.844000	0.33320	0.859000	0.49053	5.921000	0.70028	2.457000	0.83068	0.549000	0.68633	CGC	CHPF	-	NULL	ENSG00000123989		0.692	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1	-	0	16	0	C	NM_024536		220406468	-1	tier1	-	no_errors	ENST00000243776	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	220406468	C	T	220406468	3	4	41	1	0	0	0	0	1	0	0	0	3375	768	27	1	1581	1	CHPF	2	220406468	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	7839577	220406468	22792905	46	9990											
SLC4A3	6508	genome.wustl.edu	37	chr2	220501482	220501482	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcttcgtccttgccctGgtggccgccgaaggcagctt	3	11	14	13	3	1	0	0	0	1	0	3	1	2	0	4	4	2	2	4	4	1	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:220501482G>T	ENST00000358055.3	+	16	2933	c.2421G>T	c.(2419-2421)ctG>ctT	p.L807L	SLC4A3_ENST00000273063.6_Silent_p.L834L|SLC4A3_ENST00000317151.3_Silent_p.L807L|SLC4A3_ENST00000373760.2_Silent_p.L807L|SLC4A3_ENST00000373762.3_Silent_p.L834L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	807	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTGCCCTGGTGGCCGCCG	0.592																																																	0													188	169	175					2																	220501482		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2421G>T	2.37:g.220501482G>T			A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.L834	ENST00000358055.3	37	c.2502	CCDS2445.1	2																																																																																			SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.592	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0	51	0	G	NM_005070		220501482	1			no_errors	ENST00000273063	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.965	T	T	220501482	G	T	220501482	2	4	41	1	0	0	0	0	0	0	0	1	14700	1335	47	3		3	SLC4A3	2	220501482	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	95014	220501482	22697891	47	9991											
GIGYF2	26058	genome.wustl.edu	37	chr2	233651893	233651893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggaaggtggaccaacatCagtagggagaaagcatgaat	16	6	14	5	0	1	3	1	2	0	1	1	6	1	5	1	4	2	2	1	4	5	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:233651893C>T	ENST00000409547.1	+	11	877	c.566C>T	c.(565-567)tCa>tTa	p.S189L	GIGYF2_ENST00000373566.3_Missense_Mutation_p.S211L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S211L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S211L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S189L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S189L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S20L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	189	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGACCAACATCAGTAGGGAGA	0.393																																																	0													94	97	96					2																	233651893		2203	4300	6503	SO:0001583	missense	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.566C>T	2.37:g.233651893C>T	ENSP00000386537:p.Ser189Leu		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.S211L	ENST00000409547.1	37	c.632	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	C	9.900	1.206630	0.22205	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.78246	-0.92;-0.88;-0.92;-0.88;-0.8;-0.88;-0.92;-1.05;-1.16;-0.58	5.63	4.52	0.55395	.	0.252223	0.32736	N	0.005701	T	0.64271	0.2583	N	0.14661	0.345	0.31311	N	0.687116	B;P;B;P	0.36577	0.178;0.459;0.02;0.558	B;B;B;B	0.38264	0.113;0.269;0.006;0.165	T	0.71111	-0.4687	10	0.54805	T	0.06	-10.7263	13.2301	0.59938	0.0:0.8922:0.0:0.1078	.	20;211;189;189	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	L	211;138;189;211;189;189;138;189;211;189;20;20;16	ENSP00000362667:S211L;ENSP00000362664:S189L;ENSP00000386765:S211L;ENSP00000386537:S189L;ENSP00000404195:S138L;ENSP00000387070:S189L;ENSP00000387170:S211L;ENSP00000410297:S189L;ENSP00000392218:S20L;ENSP00000411505:S20L	ENSP00000362664:S189L	S	+	2	0	GIGYF2	233360137	0.035000	0.19736	1.000000	0.80357	0.989000	0.77384	1.963000	0.40452	2.797000	0.96272	0.655000	0.94253	TCA	GIGYF2	-	NULL	ENSG00000204120		0.393	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0	36	0	C	NM_001103146		233651893	1	tier1	-	no_errors	ENST00000373566	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.743	T	T	233651893	C	T	233651893	3	4	41	1	0	0	0	0	1	0	0	0	6404	838	29	3	662	3	GIGYF2	2	233651893	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	13150411	233651893	9547480	48	9992											
SEPT2	4735	genome.wustl.edu	37	chr2	242282453	242282453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaaatctatcacttacCtgatgcagaatcagatgaag	16	10	6	9	0	4	4	3	2	1	2	4	4	4	4	1	0	2	1	1	0	6	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:242282453C>T	ENST00000391973.2	+	8	1169	c.641C>T	c.(640-642)cCt>cTt	p.P214L	SEPT2_ENST00000407971.1_Missense_Mutation_p.P174L|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224L|SEPT2_ENST00000391971.2_Missense_Mutation_p.P214L|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214L|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	214	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348																																																	0													109	117	115					2																	242282453		2203	4300	6503	SO:0001583	missense	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"Septins"	7729	protein-coding gene	gene with protein product		601506	"neural precursor cell expressed, developmentally down-regulated 5"	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.641C>T	2.37:g.242282453C>T	ENSP00000375834:p.Pro214Leu		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2	p.P214L	ENST00000391973.2	37	c.641	CCDS2548.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.813573	0.96975	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.78707	0.59;0.59;0.59;0.59;0.59;-1.2;0.59;-1.2	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.89319	0.6681	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.994	D;D;D	0.80764	0.994;0.939;0.975	D	0.89648	0.3867	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	249;174;214	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	L	214;174;214;214;224;174;214;249;69	ENSP00000375834:P214L;ENSP00000397195:P174L;ENSP00000353157:P214L;ENSP00000375832:P214L;ENSP00000385109:P224L;ENSP00000384525:P174L;ENSP00000385172:P214L;ENSP00000408296:P69L	ENSP00000353157:P214L	P	+	2	0	SEPT2	241931126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.782000	0.95742	0.655000	0.94253	CCT	SEPT2	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000168385		0.348	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	0	34	0	C	NM_006155		242282453	1	tier1	-	no_errors	ENST00000360051	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	242282453	C	T	242282453	3	4	41	1	0	0	0	0	1	0	0	0	14109	681	24	3	667	3	SEPT2	2	242282453	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	8630560	242282453	916920	49	9993											
SLC6A11	6538	genome.wustl.edu	37	chr3	10861207	10861207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaattcctgttttttTcctggagacagctctggggc	5	15	12	9	0	1	1	0	0	1	1	3	3	3	2	2	4	1	2	2	4	1	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:10861207T>C	ENST00000254488.2	+	2	380	c.314T>C	c.(313-315)tTc>tCc	p.F105S	SLC6A11_ENST00000454147.1_Missense_Mutation_p.F105S	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	105					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CCTGTTTTTTTCCTGGAGACA	0.433																																																	0													178	177	177					3																	10861207		2203	4300	6503	SO:0001583	missense	0			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.314T>C	3.37:g.10861207T>C	ENSP00000254488:p.Phe105Ser		B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.F105S	ENST00000254488.2	37	c.314	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785356	0.90282	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.80738	-1.41;-1.41	5.12	5.12	0.69794	.	0.098139	0.64402	D	0.000001	D	0.91845	0.7419	H	0.94462	3.54	0.80722	D	1	D	0.58970	0.984	D	0.64410	0.925	D	0.94099	0.7360	10	0.87932	D	0	.	15.2296	0.73378	0.0:0.0:0.0:1.0	.	105	P48066	S6A11_HUMAN	S	105	ENSP00000254488:F105S;ENSP00000404120:F105S	ENSP00000254488:F105S	F	+	2	0	SLC6A11	10836207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.887000	0.87295	2.052000	0.61016	0.533000	0.62120	TTC	SLC6A11	-	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000132164		0.433	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	-	0	83	0	T	NM_014229		10861207	1	tier1	-	no_errors	ENST00000254488	ensembl	human	known	74_37	missense	18.32	107	24	SNP	1.000	C	C	10861207	T	C	10861207	3	2	41	1	0	0	0	0	1	0	0	0	14719	1783	62	4	320	4	SLC6A11	3	10861207	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09		10861207	187161223	50	9994											
PLCL2	23228	genome.wustl.edu	37	chr3	17052198	17052198	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcagttccgaggtcccTccgacatcacaggatatatt	11	10	9	11	2	2	0	2	0	0	0	5	4	5	2	3	3	0	1	3	3	2	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:17052198T>A	ENST00000418129.2	+	2	1447	c.982T>A	c.(982-984)Tcc>Acc	p.S328T	PLCL2_ENST00000432376.1_Missense_Mutation_p.S328T|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.S328T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	454					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCGAGGTCCCTCCGACATCAC	0.413																																																	0													116	123	121					3																	17052198		2203	4300	6503	SO:0001583	missense	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"phospholipase C, epsilon 2"	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.982T>A	3.37:g.17052198T>A	ENSP00000409637:p.Ser328Thr		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S328T	ENST00000418129.2	37	c.982	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454072	0.63290	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.69306	-0.39;-0.39;-0.39	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.81380	0.4810	.	.	.	0.80722	D	1	D	0.59767	0.986	D	0.65140	0.932	T	0.83265	-0.0046	9	0.62326	D	0.03	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	454	Q9UPR0	PLCL2_HUMAN	T	328;455;328;328	ENSP00000409637:S328T;ENSP00000379979:S328T;ENSP00000412836:S328T	ENSP00000285094:S455T	S	+	1	0	PLCL2	17027202	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	TCC	PLCL2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000154822		0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	-	0	37	0	T			17052198	1	tier1	-	no_errors	ENST00000418129	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	17052198	T	A	17052198	3	1	41	1	0	0	0	0	1	0	0	0	12079	1551	54	5	1360	5	PLCL2	3	17052198	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	6190991	17052198	180970232	51	9995											
KCNH8	131096	genome.wustl.edu	37	chr3	19479757	19479757	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctatattgccgctctgtacTtcacgctgagcagcctcacc	7	11	7	16	2	3	1	2	1	1	0	3	1	3	1	4	0	4	4	4	0	3	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:19479757T>G	ENST00000328405.2	+	8	1545	c.1279T>G	c.(1279-1281)Ttc>Gtc	p.F427V	KCNH8_ENST00000537696.1_Missense_Mutation_p.F68V	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	427					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CGCTCTGTACTTCACGCTGAG	0.502																																					NSCLC(124;1625 1765 8018 24930 42026)												0													131	123	126					3																	19479757		2203	4300	6503	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1279T>G	3.37:g.19479757T>G	ENSP00000328813:p.Phe427Val		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.F427V	ENST00000328405.2	37	c.1279	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038924	0.93630	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.98313	-4.86;1.07	5.6	5.6	0.85130	Ion transport (1);	0.000000	0.33382	U	0.004976	D	0.99048	0.9674	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.995;0.995	D	0.99612	1.0981	9	.	.	.	.	15.7865	0.78306	0.0:0.0:0.0:1.0	.	68;427;427	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	V	427;68	ENSP00000328813:F427V;ENSP00000446294:F68V	.	F	+	1	0	KCNH8	19454761	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.956000	0.87863	2.125000	0.65367	0.454000	0.30748	TTC	KCNH8	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000183960		0.502	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	-	0	49	0	T	NM_144633		19479757	1	tier1	-	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G	G	19479757	T	G	19479757	3	3	41	1	0	0	0	0	1	0	0	0	8065	1609	56	4	1309	4	KCNH8	3	19479757	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	2427559	19479757	178542673	52	9996											
SLC4A7	9497	genome.wustl.edu	37	chr3	27436095	27436095	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttcacgaattcccaaaaActtgggttgttcccctggag	9	12	9	11	1	1	0	1	0	0	0	3	2	3	1	3	2	1	3	3	2	3	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:27436095A>C	ENST00000295736.5	-	20	3074	c.3004T>G	c.(3004-3006)Ttt>Gtt	p.F1002V	SLC4A7_ENST00000435667.2_Missense_Mutation_p.F887V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.F552V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.F883V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.F994V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.F878V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.F998V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.F1011V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.F883V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.F998V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1002					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATTCCCAAAAACTTGGGTTGT	0.413																																																	0													80	79	79					3																	27436095		2203	4300	6503	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3004T>G	3.37:g.27436095A>C	ENSP00000295736:p.Phe1002Val		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.F1011V	ENST00000295736.5	37	c.3031	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025883	0.93518	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.71920	2.185	0.80722	D	1	D;D;D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.931;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999;0.747;0.999;0.999;1.0	D	0.88183	0.2872	10	0.59425	D	0.04	.	16.0958	0.81123	1.0:0.0:0.0:0.0	.	998;883;994;998;1011;552;878;1002;883	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	553;1002;878;1011;998;883;994;883;998;887;552;898	ENSP00000411031:F553V;ENSP00000295736:F1002V;ENSP00000416368:F878V;ENSP00000390394:F1011V;ENSP00000414797:F998V;ENSP00000394252:F883V;ENSP00000406605:F994V;ENSP00000407382:F883V;ENSP00000406804:F998V;ENSP00000395336:F887V;ENSP00000373429:F552V;ENSP00000388703:F898V	ENSP00000295736:F1002V	F	-	1	0	SLC4A7	27411099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.203000	0.70933	0.482000	0.46254	TTT	SLC4A7	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.413	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	-	0	58	0	A	NM_003615		27436095	-1	tier1	-	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	14.61	76	13	SNP	1.000	C	C	27436095	A	C	27436095	3	2	41	1	0	0	0	0	1	0	0	0	14703	43	2	4	664	4	SLC4A7	3	27436095	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	7956338	27436095	170586335	53	9997											
CELSR3	1951	genome.wustl.edu	37	chr3	48689337	48689337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcaagaaaaggtctGccagaggtcccggcagtctg	10	6	15	10	1	2	2	0	0	2	2	3	2	3	2	2	4	2	3	2	4	3	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:48689337G>T	ENST00000164024.4	-	12	6176	c.5896C>A	c.(5896-5898)Cag>Aag	p.Q1966K	CELSR3_ENST00000544264.1_Missense_Mutation_p.Q1966K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1966	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAAAGGTCTGCCAGAGGTCC	0.647																																																	0													66	73	70					3																	48689337		2203	4300	6503	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5896C>A	3.37:g.48689337G>T	ENSP00000164024:p.Gln1966Lys		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.Q1966K	ENST00000164024.4	37	c.5896	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884201	0.51908	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.91631	-2.88;-2.88	5.72	5.72	0.89469	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86522	0.5953	L	0.28400	0.85	0.50171	D	0.999852	B;B	0.30584	0.286;0.255	B;B	0.26517	0.07;0.057	D	0.83760	0.0214	9	0.32370	T	0.25	.	14.7031	0.69168	0.0:0.0:0.8551:0.1449	.	1966;2036	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	1966	ENSP00000164024:Q1966K;ENSP00000445694:Q1966K	ENSP00000164024:Q1966K	Q	-	1	0	CELSR3	48664341	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.641000	0.61375	2.711000	0.92665	0.655000	0.94253	CAG	CELSR3	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000008300		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0	39	0	G	NM_001407		48689337	-1			no_errors	ENST00000544264	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	48689337	G	T	48689337	3	4	41	1	0	0	0	0	1	0	0	0	3230	1328	46	3	4138	3	CELSR3	3	48689337	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	21253242	48689337	149333093	54	9998											
DOCK3	1795	genome.wustl.edu	37	chr3	51101942	51101942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaacttattgacctgcgaAggcagctactgtctggtcac	10	11	10	10	1	2	2	1	2	1	0	2	3	2	2	1	2	4	2	1	2	4	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:51101942A>G	ENST00000266037.9	+	6	402	c.379A>G	c.(379-381)Agg>Ggg	p.R127G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	127					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGACCTGCGAAGGCAGCTACT	0.458																																																	0													97	100	99					3																	51101942		1951	4150	6101	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.379A>G	3.37:g.51101942A>G	ENSP00000266037:p.Arg127Gly		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R127G	ENST00000266037.9	37	c.379	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876960	0.72180	.	.	ENSG00000088538	ENST00000266037	T	0.57752	0.38	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.76838	2.35	0.54753	D	0.999982	D	0.63880	0.993	D	0.64506	0.926	T	0.74931	-0.3496	10	0.56958	D	0.05	.	16.3275	0.82990	1.0:0.0:0.0:0.0	.	127	Q8IZD9	DOCK3_HUMAN	G	127	ENSP00000266037:R127G	ENSP00000266037:R127G	R	+	1	2	DOCK3	51076982	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.465000	0.45075	2.266000	0.75297	0.528000	0.53228	AGG	DOCK3	-	NULL	ENSG00000088538		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	37	0	A	NM_004947		51101942	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	G	G	51101942	A	G	51101942	3	3	41	1	0	0	0	0	1	0	0	0	4702	63	3	4	401	4	DOCK3	3	51101942	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	2412605	51101942	146920488	55	9999											
PBRM1	55193	genome.wustl.edu	37	chr3	52712580	52712580	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcatccttatagtctcGgatggtattatagagttcat	9	17	8	7	1	3	1	2	0	1	1	5	2	4	2	1	2	0	3	1	2	5	7			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:52712580G>A	ENST00000296302.7	-	2	173	c.172C>T	c.(172-174)Cga>Tga	p.R58*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R58*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R58*			Q86U86	PB1_HUMAN	polybromo 1	58					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R58*(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTATAGTCTCGGATGGTATTA	0.433			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	7	Substitution - Nonsense(7)	kidney(6)|large_intestine(1)											130	118	122					3																	52712580		2203	4300	6503	SO:0001587	stop_gained	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.172C>T	3.37:g.52712580G>A	ENSP00000296302:p.Arg58*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.R58*	ENST00000296302.7	37	c.172		3	.	.	.	.	.	.	.	.	.	.	G	36	5.705422	0.96812	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	3.17	0.36434	.	0.056365	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9834	8.9802	0.35961	0.0:0.1109:0.6405:0.2486	.	.	.	.	X	58;58;58;58;58;58;58;58;58;2;58;58;58;58	.	ENSP00000296302:R58X	R	-	1	2	PBRM1	52687620	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.452000	0.52971	1.160000	0.42584	0.460000	0.39030	CGA	PBRM1	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000163939		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0	28	0	G	NM_018165		52712580	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	nonsense	25.93	40	14	SNP	1.000	A	A	52712580	G	A	52712580	4	1	41	1	0	0	0	0	0	1	0	0	11530	1124	39	1	4844	1	PBRM1	3	52712580	Nonsense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1610638	52712580	145309850	56	10000											
FOXP1	27086	genome.wustl.edu	37	chr3	71064750	71064750	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttcacagcctggccacttGcatacaccatgtccatagag	10	9	8	14	0	1	1	1	0	0	1	2	1	2	1	4	1	3	2	4	1	2	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:71064750G>A	ENST00000318789.4	-	12	1449	c.924C>T	c.(922-924)tgC>tgT	p.C308C	FOXP1_ENST00000498215.1_Silent_p.C308C|FOXP1_ENST00000484350.1_Silent_p.C232C|FOXP1_ENST00000468577.1_Silent_p.C308C|FOXP1_ENST00000475937.1_Silent_p.C308C|FOXP1_ENST00000491238.1_Silent_p.C310C|FOXP1_ENST00000493089.1_Silent_p.C308C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	308					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGGCCACTTGCATACACCAT	0.428			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													82	77	79					3																	71064750		2203	4300	6503	SO:0001819	synonymous_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.924C>T	3.37:g.71064750G>A			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.C308	ENST00000318789.4	37	c.924	CCDS2914.1	3																																																																																			FOXP1	-	NULL	ENSG00000114861		0.428	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0	47	0	G	NM_032682		71064750	-1			no_errors	ENST00000318789	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A	A	71064750	G	A	71064750	2	1	41	1	0	0	0	0	0	0	0	1	6050	1311	46	3		3	FOXP1	3	71064750	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	18352170	71064750	126957680	57	10001											
IMPG2	50939	genome.wustl.edu	37	chr3	100962490	100962490	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaccaccaaagctcctgaAgtctgggtataactcaagtc	15	8	7	11	0	2	1	1	1	1	0	4	1	3	1	3	1	3	2	3	1	7	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:100962490A>C	ENST00000193391.7	-	13	2872	c.2685T>G	c.(2683-2685)acT>acG	p.T895T		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	895					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AAGCTCCTGAAGTCTGGGTAT	0.438																																																	0													125	114	118					3																	100962490		2203	4300	6503	SO:0001819	synonymous_variant	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2685T>G	3.37:g.100962490A>C			A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T895	ENST00000193391.7	37	c.2685	CCDS2940.1	3																																																																																			IMPG2	-	smart_SEA_dom,pfscan_SEA_dom	ENSG00000081148		0.438	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0	33	0	A			100962490	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	silent	23.33	46	14	SNP	0.000	C	C	100962490	A	C	100962490	2	2	41	1	0	0	0	0	0	0	0	1	7756	59	3	4		4	IMPG2	3	100962490	Silent	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	29897740	100962490	97059940	58	10002											
DZIP3	9666	genome.wustl.edu	37	chr3	108394694	108394694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgccattgtggcagatGttagaaacaagattgcattc	13	11	11	6	0	0	3	0	0	0	3	1	4	0	4	1	2	3	3	1	2	4	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:108394694G>T	ENST00000361582.3	+	25	2985	c.2755G>T	c.(2755-2757)Gtt>Ttt	p.V919F	DZIP3_ENST00000463306.1_Missense_Mutation_p.V919F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	919					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGTGGCAGATGTTAGAAACAA	0.368																																																	0													90	82	85					3																	108394694		2203	4300	6503	SO:0001583	missense	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30938	protein-coding gene	gene with protein product	"human RNA-binding ubiquitin ligase of 138 kDa", "protein phosphatase 1, regulatory subunit 66"	608672	"DAZ interacting protein 3, zinc finger"			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2755G>T	3.37:g.108394694G>T	ENSP00000355028:p.Val919Phe		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V919F	ENST00000361582.3	37	c.2755	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913820	0.72983	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.25749	1.78;1.78	4.71	4.71	0.59529	.	0.000000	0.43919	D	0.000517	T	0.46852	0.1414	L	0.61218	1.895	0.38325	D	0.943626	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.986	T	0.52682	-0.8543	10	0.87932	D	0	-15.9483	13.0057	0.58703	0.0:0.0:1.0:0.0	.	537;919	D3DN61;Q86Y13	.;DZIP3_HUMAN	F	919	ENSP00000355028:V919F;ENSP00000419981:V919F	ENSP00000355028:V919F	V	+	1	0	DZIP3	109877384	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.230000	0.58632	2.429000	0.82318	0.491000	0.48974	GTT	DZIP3	-	NULL	ENSG00000198919		0.368	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	-	0	47	0	G	NM_014648		108394694	1	tier1	-	no_errors	ENST00000361582	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	108394694	G	T	108394694	3	4	41	1	0	0	0	0	1	0	0	0	4879	1377	48	3	2849	3	DZIP3	3	108394694	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	7432204	108394694	89627736	59	10003											
FSTL1	11167	genome.wustl.edu	37	chr3	120128473	120128473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccactggatgatgcgaCgtcggagctcatcacggttg	8	8	13	12	4	2	1	2	1	0	0	3	4	2	3	2	3	3	2	2	3	0	1	rs554312023		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:120128473C>T	ENST00000295633.3	-	6	724	c.368G>A	c.(367-369)cGt>cAt	p.R123H	FSTL1_ENST00000424703.2_Missense_Mutation_p.R88H	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	123					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R123H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGATGCGACGTCGGAGCTC	0.502													C|||	1	0.000199681	8e-04	0	5008	,	,		22184	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											94	88	90					3																	120128473		2203	4300	6503	SO:0001583	missense	0			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.368G>A	3.37:g.120128473C>T	ENSP00000295633:p.Arg123His		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.R123H	ENST00000295633.3	37	c.368	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870192	0.51588	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703;ENST00000469005	T;T;T	0.23950	2.4;1.88;2.44	5.24	3.45	0.39498	.	0.341398	0.34507	N	0.003916	T	0.19327	0.0464	L	0.38175	1.15	0.40669	D	0.98219	B;B	0.24483	0.104;0.051	B;B	0.15052	0.011;0.012	T	0.04140	-1.0974	10	0.42905	T	0.14	-9.9698	10.6484	0.45634	0.0:0.8459:0.0:0.1541	.	88;123	B4DTT5;Q12841	.;FSTL1_HUMAN	H	123;66;88;123	ENSP00000295633:R123H;ENSP00000394355:R88H;ENSP00000418505:R123H	ENSP00000295633:R123H	R	-	2	0	FSTL1	121611163	0.005000	0.15991	0.999000	0.59377	0.992000	0.81027	0.611000	0.24268	0.614000	0.30107	-0.136000	0.14681	CGT	FSTL1	-	NULL	ENSG00000163430		0.502	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	-	0	27	0	C	NM_007085		120128473	-1	tier1	-	no_errors	ENST00000295633	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.988	T	T	120128473	C	T	120128473	3	4	41	1	0	0	0	0	1	0	0	0	6101	536	19	1	582	1	FSTL1	3	120128473	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	11733779	120128473	77893957	60	10004											
COL6A6	131873	genome.wustl.edu	37	chr3	130368299	130368299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcagcggtcagtccGcggatgcccactccatcacc	7	9	9	16	3	3	0	3	0	0	0	5	1	5	1	4	2	3	1	4	2	0	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:130368299G>A	ENST00000358511.6	+	32	5657	c.5626G>A	c.(5626-5628)Gcg>Acg	p.A1876T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1876T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1876	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGTCAGTCCGCGGATGCCCA	0.577																																																	0													24	25	25					3																	130368299		2051	4173	6224	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5626G>A	3.37:g.130368299G>A	ENSP00000351310:p.Ala1876Thr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A1876T	ENST00000358511.6	37	c.5626	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	5.356	0.250923	0.10130	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.81908	-1.55;-1.55	5.45	-1.25	0.09405	von Willebrand factor, type A (3);	.	.	.	.	T	0.68632	0.3022	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.49082	-0.8976	9	0.12766	T	0.61	.	1.7262	0.02922	0.1942:0.21:0.3996:0.1962	.	1876	A6NMZ7	CO6A6_HUMAN	T	1876	ENSP00000351310:A1876T;ENSP00000399236:A1876T	ENSP00000351310:A1876T	A	+	1	0	COL6A6	131850989	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.060000	0.14342	0.004000	0.14682	-0.502000	0.04539	GCG	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.577	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	15	0	G	NM_001102608		130368299	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.000	A	A	130368299	G	A	130368299	3	1	41	1	0	0	0	0	1	0	0	0	3710	1087	38	1	5752	1	COL6A6	3	130368299	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	10239826	130368299	67654131	61	10005											
MED12L	116931	genome.wustl.edu	37	chr3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-																															atcggggcccccagccctggCccccccggccctggcatgag																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																																	0													83	94	90					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G338fs	ENST00000474524.1	37	c.1005	CCDS33876.1	3																																																																																			MED12L	-	pfam_Mediator_Med12_LCEWAV	ENSG00000144893		0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0	41	0	C	NM_053002		150877786	1	tier1		no_errors	ENST00000474524	ensembl	human	known	74_37	frame_shift_del	6.38	44	3	DEL	0.269	-	-	150877786	C	-	150877786	7	5	41	1	0	1	0	1	0	0	0	0	9467	726	26	0	1031	0	MED12L	3	150877786	Frame_Shift_Del	DEL	C	TCGA-JY-A938-01A-11D-A37C-09	20509487	150877786	47144644	62	10006											
EIF2B5	8893	genome.wustl.edu	37	chr3	183862446	183862446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaattctgagctggttcaGccaaagagatacaactgaca	16	8	8	9	0	2	3	1	2	1	1	2	4	2	3	1	1	5	2	1	1	5	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:183862446G>T	ENST00000273783.3	+	15	2179	c.2057G>T	c.(2056-2058)aGc>aTc	p.S686I	EIF2B5_ENST00000444495.1_Missense_Mutation_p.S686I	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	686	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCTGGTTCAGCCAAAGAGAT	0.527																																																	0													63	60	61					3																	183862446		2203	4300	6503	SO:0001583	missense	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.2057G>T	3.37:g.183862446G>T	ENSP00000273783:p.Ser686Ile		Q541Z1|Q96D04	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.S686I	ENST00000273783.3	37	c.2057	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	g	14.63	2.591603	0.46214	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	D;D	0.81499	-1.5;-1.5	5.77	0.285	0.15705	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.566696	0.21013	N	0.081645	T	0.74566	0.3733	M	0.73962	2.25	0.40540	D	0.981018	P;B	0.34955	0.477;0.29	B;B	0.33042	0.157;0.075	T	0.68036	-0.5515	10	0.51188	T	0.08	.	6.2254	0.20706	0.4158:0.2132:0.371:0.0	.	686;686	E9PC74;Q13144	.;EI2BE_HUMAN	I	686	ENSP00000273783:S686I;ENSP00000409142:S686I	ENSP00000273783:S686I	S	+	2	0	EIF2B5	185345140	0.942000	0.31987	0.909000	0.35828	0.991000	0.79684	0.999000	0.29757	0.026000	0.15269	0.561000	0.74099	AGC	EIF2B5	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	ENSG00000145191		0.527	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	-	0	36	0	G			183862446	1	tier1	-	no_errors	ENST00000273783	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.956	T	T	183862446	G	T	183862446	3	4	41	1	0	0	0	0	1	0	0	0	5018	971	34	3	2115	3	EIF2B5	3	183862446	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	32984660	183862446	14159984	63	10007											
FBXO45	200933	genome.wustl.edu	37	chr3	196304479	196304479	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggccgccatgcatgggaAgtgtggtgggagggccctct	6	7	19	9	1	1	0	0	0	1	0	1	3	1	2	3	5	1	1	3	5	1	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:196304479A>C	ENST00000311630.6	+	2	771	c.474A>C	c.(472-474)gaA>gaC	p.E158D	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	158	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ATGCATGGGAAGTGTGGTGGG	0.537																																																	0													43	43	43					3																	196304479		1969	4152	6121	SO:0001583	missense	0			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"F-boxes /  "other""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.474A>C	3.37:g.196304479A>C	ENSP00000310332:p.Glu158Asp		A6NF90|D3DXB5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom	p.E158D	ENST00000311630.6	37	c.474	CCDS46985.1	3	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760315	0.49468	.	.	ENSG00000174013	ENST00000311630	D	0.85258	-1.96	4.95	-0.0783	0.13715	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.095239	0.64402	D	0.000001	D	0.83681	0.5307	M	0.75150	2.29	0.52501	D	0.999951	B	0.30973	0.302	B	0.37451	0.25	T	0.78079	-0.2344	10	0.46703	T	0.11	-10.5992	9.8426	0.41008	0.615:0.0:0.385:0.0	.	158	P0C2W1	FBSP1_HUMAN	D	158	ENSP00000310332:E158D	ENSP00000310332:E158D	E	+	3	2	FBXO45	197788876	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.047000	0.30367	0.051000	0.15978	-1.075000	0.02238	GAA	FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000174013		0.537	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	-	0	40	0	A			196304479	1	tier1	-	no_errors	ENST00000311630	ensembl	human	known	74_37	missense	42.86	28	21	SNP	1.000	C	C	196304479	A	C	196304479	3	2	41	1	0	0	0	0	1	0	0	0	5776	69	3	4	480	4	FBXO45	3	196304479	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	12442033	196304479	1717951	64	10008											
ADRA2C	152	genome.wustl.edu	37	chr4	3768788	3768788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctggaccgctactggtCggtgacgcaggccgtcgagt	6	7	15	13	5	0	1	0	1	0	0	2	3	0	2	3	4	2	2	3	4	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:3768788C>T	ENST00000330055.5	+	1	664	c.455C>T	c.(454-456)tCg>tTg	p.S152L	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S152L	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	152					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGCTACTGGTCGGTGACGCAG	0.637																																					Esophageal Squamous(12;454 628 4517 14479)												0													71	67	68					4																	3768788		2202	4300	6502	SO:0001583	missense	0			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.455C>T	4.37:g.3768788C>T	ENSP00000386069:p.Ser152Leu		P35369|Q9HB49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.S152L	ENST00000330055.5	37	c.455	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332928	0.81801	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37584	1.19;1.19	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61714	0.2369	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69859	-0.5031	9	0.87932	D	0	.	13.8323	0.63389	0.0:1.0:0.0:0.0	.	152;152	D6RGL0;P18825	.;ADA2C_HUMAN	L	152	ENSP00000426268:S152L;ENSP00000386069:S152L	ENSP00000386069:S152L	S	+	2	0	ADRA2C	3738586	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	4.848000	0.62874	1.700000	0.51204	0.561000	0.74099	TCG	ADRA2C	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184160		0.637	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	-	0	29	0	C	NM_000683		3768788	1	tier1	-	no_errors	ENST00000330055	ensembl	human	known	74_37	missense	13.92	68	11	SNP	1.000	T	T	3768788	C	T	3768788	3	4	41	1	0	0	0	0	1	0	0	0	339	893	31	1	457	1	ADRA2C	4	3768788	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09		3768788	187385488	65	10009											
EVC2	132884	genome.wustl.edu	37	chr4	5620242	5620242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggcctggtccagcttcAcgaactctgcttctcgccac	6	9	8	18	3	3	0	1	0	2	0	5	1	4	0	4	2	3	2	4	2	1	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:5620242A>G	ENST00000344408.5	-	15	2722	c.2669T>C	c.(2668-2670)gTg>gCg	p.V890A	EVC2_ENST00000344938.1_Missense_Mutation_p.V890A|EVC2_ENST00000310917.2_Missense_Mutation_p.V810A	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	890					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTCCAGCTTCACGAACTCTGC	0.622																																																	0													52	50	50					4																	5620242		2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2669T>C	4.37:g.5620242A>G	ENSP00000342144:p.Val890Ala		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.V890A	ENST00000344408.5	37	c.2669	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	A	9.115	1.007588	0.19199	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73047	-0.71;-0.7;-0.71	5.36	1.38	0.22167	.	0.601202	0.16108	N	0.229250	T	0.42585	0.1209	N	0.08118	0	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.12103	T	0.63	-1.1425	6.1335	0.20219	0.5774:0.1509:0.0:0.2717	.	890	Q86UK5	LBN_HUMAN	A	890;810;890	ENSP00000339954:V890A;ENSP00000311683:V810A;ENSP00000342144:V890A	ENSP00000311683:V810A	V	-	2	0	EVC2	5671143	0.998000	0.40836	0.324000	0.25361	0.065000	0.16274	0.954000	0.29175	0.010000	0.14839	0.533000	0.62120	GTG	EVC2	-	NULL	ENSG00000173040		0.622	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0	23	0	A	NM_147127		5620242	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.966	G	G	5620242	A	G	5620242	3	3	41	1	0	0	0	0	1	0	0	0	5302	159	6	4	1289	4	EVC2	4	5620242	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	1851454	5620242	185534034	66	10010											
FGFBP1	9982	genome.wustl.edu	37	chr4	15937951	15937951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccttgagctttaggcatGaggttggattgccagcaaag	10	11	12	8	0	0	2	0	2	0	0	1	3	1	3	2	3	3	4	2	3	2	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:15937951G>A	ENST00000382333.1	-	3	599	c.305C>T	c.(304-306)tCa>tTa	p.S102L	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S102L	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	102					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CTTTAGGCATGAGGTTGGATT	0.473																																																	0													114	108	110					4																	15937951		2203	4300	6503	SO:0001583	missense	0			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.305C>T	4.37:g.15937951G>A	ENSP00000371770:p.Ser102Leu		A8K5J2	Missense_Mutation	SNP	pfam_FGF1-bd	p.S102L	ENST00000382333.1	37	c.305	CCDS3418.1	4	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825275	0.50739	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.14766	2.48;2.48	5.65	0.445	0.16597	.	1.077030	0.07056	N	0.832950	T	0.19005	0.0456	M	0.63843	1.955	0.09310	N	1	B	0.34181	0.44	B	0.40864	0.342	T	0.36915	-0.9728	10	0.62326	D	0.03	-2.1691	5.5065	0.16856	0.0693:0.1023:0.4431:0.3853	.	102	Q14512	FGFP1_HUMAN	L	102	ENSP00000371770:S102L;ENSP00000259988:S102L	ENSP00000259988:S102L	S	-	2	0	FGFBP1	15547049	0.001000	0.12720	0.000000	0.03702	0.259000	0.26198	0.860000	0.27871	-0.246000	0.09611	-0.195000	0.12781	TCA	FGFBP1	-	pfam_FGF1-bd	ENSG00000137440		0.473	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFBP1	HGNC	protein_coding	OTTHUMT00000214974.1	-	0	40	0	G	NM_005130		15937951	-1	tier1	-	no_errors	ENST00000259988	ensembl	human	known	74_37	missense	19.28	67	16	SNP	0.000	A	A	15937951	G	A	15937951	3	1	41	1	0	0	0	0	1	0	0	0	5882	1294	45	3	403	3	FGFBP1	4	15937951	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	10317709	15937951	175216325	67	10011											
KIAA1211	57482	genome.wustl.edu	37	chr4	57164502	57164502	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacatcctgggcaaagTcaaaactcttcaggtaagac	15	7	9	10	0	3	1	2	0	1	1	4	2	4	2	1	3	2	2	1	3	5	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:57164502T>G	ENST00000504228.1	+	2	212	c.107T>G	c.(106-108)gTc>gGc	p.V36G	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S22A|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V36G			Q6ZU35	K1211_HUMAN	KIAA1211	36										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGGGCAAAGTCAAAACTCTT	0.498																																																	0													73	71	71					4																	57164502		1910	4132	6042	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.107T>G	4.37:g.57164502T>G	ENSP00000423366:p.Val36Gly		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.V36G	ENST00000504228.1	37	c.107	CCDS43230.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.02|15.02	2.708299|2.708299	0.48412|0.48412	.|.	.|.	ENSG00000109265|ENSG00000109265	ENST00000541073|ENST00000264229;ENST00000504228	T|T;T	0.12879|0.24151	2.64|1.87;1.87	5.35|5.35	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.43122|0.43122	0.1233|0.1233	L|L	0.55990|0.55990	1.75|1.75	0.21822|0.21822	N|N	0.999521|0.999521	D|D	0.55385|0.58620	0.971|0.983	P|D	0.50617|0.63597	0.646|0.916	T|T	0.21621|0.21621	-1.0240|-1.0240	9|9	0.87932|0.87932	D|D	0|0	-18.1538|-18.1538	11.4835|11.4835	0.50339|0.50339	0.0:0.0709:0.0:0.9291|0.0:0.0709:0.0:0.9291	.|.	22|36	F5H1N7|Q6ZU35	.|K1211_HUMAN	A|G	22|36	ENSP00000444006:S22A|ENSP00000264229:V36G;ENSP00000423366:V36G	ENSP00000444006:S22A|ENSP00000264229:V36G	S|V	+|+	1|2	0|0	KIAA1211|KIAA1211	56859259|56859259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.729000|5.729000	0.68538|0.68538	1.011000|1.011000	0.39340|0.39340	0.533000|0.533000	0.62120|0.62120	TCA|GTC	KIAA1211	-	NULL	ENSG00000109265		0.498	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	0	53	0	T	NM_020722		57164502	1	tier1	-	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	G	G	57164502	T	G	57164502	3	3	41	1	0	0	0	0	1	0	0	0	8242	1667	58	4	109	4	KIAA1211	4	57164502	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	41226551	57164502	133989774	68	10012											
ENAM	10117	genome.wustl.edu	37	chr4	71509221	71509221	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaggtgaacaatatacctCaaatcagccaaaggaatatc	18	8	7	8	0	2	2	2	2	0	0	3	3	2	3	2	2	3	0	2	2	9	3	rs147484294		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:71509221C>G	ENST00000396073.3	+	9	2359	c.2078C>G	c.(2077-2079)tCa>tGa	p.S693*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	693					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAATATACCTCAAATCAGCCA	0.413																																																	0													85	86	85					4																	71509221		2203	4300	6503	SO:0001587	stop_gained	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2078C>G	4.37:g.71509221C>G	ENSP00000379383:p.Ser693*		Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	NULL	p.S693*	ENST00000396073.3	37	c.2078	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	C	37	6.265111	0.97426	.	.	ENSG00000132464	ENST00000396073	.	.	.	6.01	2.2	0.27929	.	0.925423	0.09059	N	0.854586	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-2.3252	4.5172	0.11940	0.1535:0.6023:0.0:0.2441	.	.	.	.	X	693	.	ENSP00000379383:S693X	S	+	2	0	ENAM	71728085	0.002000	0.14202	0.082000	0.20525	0.544000	0.35116	0.206000	0.17375	0.428000	0.26173	0.655000	0.94253	TCA	ENAM	-	NULL	ENSG00000132464		0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3		0	47	0	C	NM_031889		71509221	1			no_errors	ENST00000396073	ensembl	human	known	74_37	nonsense	5.26	53	3	SNP	0.057	G	G	71509221	C	G	71509221	4	3	41	1	0	0	0	0	0	1	0	0	5128	838	29	5	2108	5	ENAM	4	71509221	Nonsense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	14344719	71509221	119645055	69	10013											
ANKRD17	26057	genome.wustl.edu	37	chr4	73942757	73942757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaaatatgggtcctccaGcaccatcagggataggtgct	11	10	10	10	0	1	0	1	0	0	0	3	1	3	1	3	3	2	2	3	3	4	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:73942757G>A	ENST00000358602.4	-	33	7768	c.7652C>T	c.(7651-7653)gCt>gTt	p.A2551V	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2300V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2438V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2551					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGTCCTCCAGCACCATCAGG	0.448																																																	0													86	80	82					4																	73942757		2203	4300	6503	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7652C>T	4.37:g.73942757G>A	ENSP00000351416:p.Ala2551Val		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.A2551V	ENST00000358602.4	37	c.7652	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093165	0.76756	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	T;T;T	0.68025	-0.3;-0.25;-0.26	5.57	5.57	0.84162	.	0.310182	0.27473	N	0.019202	T	0.57621	0.2066	N	0.22421	0.69	0.38588	D	0.950356	B;B;B;B	0.26809	0.16;0.16;0.099;0.041	B;B;B;B	0.24701	0.055;0.055;0.025;0.015	T	0.59894	-0.7368	10	0.72032	D	0.01	.	19.5498	0.95312	0.0:0.0:1.0:0.0	.	2550;2300;2551;2438	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	2551;1958;2300;2438	ENSP00000351416:A2551V;ENSP00000332265:A2300V;ENSP00000427151:A2438V	ENSP00000332265:A2300V	A	-	2	0	ANKRD17	74161621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.509000	0.73725	2.623000	0.88846	0.563000	0.77884	GCT	ANKRD17	-	NULL	ENSG00000132466		0.448	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	-	0	32	0	G	NM_032217		73942757	-1	tier1	-	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	A	A	73942757	G	A	73942757	3	1	41	1	0	0	0	0	1	0	0	0	646	971	34	3	167	3	ANKRD17	4	73942757	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2433536	73942757	117211519	70	10014											
DSPP	1834	genome.wustl.edu	37	chr4	88535804	88535804	+	Missense_Mutation	SNP	A	A	G																															gcgacagcagcaatagcagtAacagcagtgatagtagtgac																								rs200105658		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:88535804A>G	ENST00000282478.7	+	4	2023	c.1990A>G	c.(1990-1992)Aac>Gac	p.N664D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N664D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	664	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		caatagcagtaacagcagtga	0.493																																																	0													119	135	130					4																	88535804		1734	3188	4922	SO:0001583	missense	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1990A>G	4.37:g.88535804A>G	ENSP00000282478:p.Asn664Asp		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.N664D	ENST00000282478.7	37	c.1990	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	-	5.219	0.225893	0.09916	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87729	-2.29;-2.29	2.41	2.41	0.29592	.	.	.	.	.	T	0.71384	0.3333	N	0.08118	0	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.55835	-0.8078	9	0.21540	T	0.41	.	7.5618	0.27855	0.1522:0.0:0.8478:0.0	.	664	Q9NZW4	DSPP_HUMAN	D	664	ENSP00000382213:N664D;ENSP00000282478:N664D	ENSP00000282478:N664D	N	+	1	0	DSPP	88754828	0.082000	0.21442	0.771000	0.31576	0.003000	0.03518	1.265000	0.33027	0.299000	0.22661	-1.229000	0.01577	AAC	DSPP	-	NULL	ENSG00000152591		0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	-	0	81	0	A	NM_014208		88535804	1	tier1	rs200105658	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	8.41	98	9	SNP	0.975	G	G	88535804	A	G	88535804	3	3	41	1	0	0	0	0	1	0	0	0	4796	362	13	4	2004	4	DSPP	4	88535804	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	14593047	88535804	102618472	71	10015	39	2									
DSPP	1834	genome.wustl.edu	37	chr4	88535806	88535806	+	Missense_Mutation	SNP	C	C	G																															gacagcagcaatagcagtaaCagcagtgatagtagtgacag																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:88535806C>G	ENST00000282478.7	+	4	2025	c.1992C>G	c.(1990-1992)aaC>aaG	p.N664K	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N664K			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	664	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtaacagcagtgata	0.488																																																	0													120	137	131					4																	88535806		1732	3179	4911	SO:0001583	missense	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1992C>G	4.37:g.88535806C>G	ENSP00000282478:p.Asn664Lys		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.N664K	ENST00000282478.7	37	c.1992	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	-	0.080	-1.185915	0.01620	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87412	-2.25;-2.25	2.58	0.451	0.16629	.	.	.	.	.	T	0.76154	0.3948	L	0.29908	0.895	0.18873	N	0.999985	B	0.06786	0.001	B	0.01281	0.0	T	0.62982	-0.6738	9	0.56958	D	0.05	.	2.8528	0.05563	0.2172:0.5026:0.0:0.2802	.	664	Q9NZW4	DSPP_HUMAN	K	664	ENSP00000382213:N664K;ENSP00000282478:N664K	ENSP00000282478:N664K	N	+	3	2	DSPP	88754830	0.006000	0.16342	0.741000	0.31004	0.002000	0.02628	-0.740000	0.04861	-0.057000	0.13199	-1.617000	0.00794	AAC	DSPP	-	NULL	ENSG00000152591		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	-	0	81	0	C	NM_014208		88535806	1	tier1	-	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	8.49	97	9	SNP	0.986	G	G	88535806	C	G	88535806	3	3	41	1	0	0	0	0	1	0	0	0	4796	477	17	5	2006	5	DSPP	4	88535806	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	2	88535806	102618470	72	10016	39	2									
CLGN	1047	genome.wustl.edu	37	chr4	141317266	141317266	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatcaggtttttcagcAttaggatcagggataaattt	12	14	9	6	0	4	0	4	0	0	0	4	2	4	2	0	3	1	2	0	3	3	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:141317266A>G	ENST00000325617.5	-	9	1418	c.978T>C	c.(976-978)aaT>aaC	p.N326N	CLGN_ENST00000537281.1_Silent_p.N326N|CLGN_ENST00000414773.1_Silent_p.N326N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	326	Interaction with PPIB. {ECO:0000250}.				binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTTTCAGCATTAGGATCAG	0.368																																																	0													195	188	190					4																	141317266		2203	4300	6503	SO:0001819	synonymous_variant	0			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.978T>C	4.37:g.141317266A>G			B3KS90|B4DXV8|D3DNY8	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.N326	ENST00000325617.5	37	c.978	CCDS3751.1	4																																																																																			CLGN	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	ENSG00000153132		0.368	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	-	0	71	0	A	NM_004362		141317266	-1	tier1	-	no_errors	ENST00000325617	ensembl	human	known	74_37	silent	20.18	87	22	SNP	0.011	G	G	141317266	A	G	141317266	2	3	41	1	0	0	0	0	0	0	0	1	3531	214	8	4		4	CLGN	4	141317266	Silent	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	52781460	141317266	49837010	73	10017											
TRIML2	205860	genome.wustl.edu	37	chr4	189026085	189026085	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatatttcctggaataacTtctatagagaaagcacagaa	17	11	6	7	0	2	2	1	0	1	2	3	4	3	3	1	1	2	1	1	1	8	6	rs113404223	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:189026085T>G	ENST00000512729.1	-	2	415	c.41A>C	c.(40-42)aAg>aCg	p.K14T	TRIML2_ENST00000326754.3_Splice_Site_p.K14T|TRIML2_ENST00000502707.1_5'Flank|TRIML2_ENST00000536972.1_Splice_Site_p.K64T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	14					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.K14T(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGGAATAACTTCTATAGAGA	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											138	133	135					4																	189026085		2203	4299	6502	SO:0001630	splice_region_variant	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.40-1A>C	4.37:g.189026085T>G			B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.K14T	ENST00000512729.1	37	c.41	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	T	8.363	0.833459	0.16820	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.59502	0.49;0.26;0.43	4.63	-0.939	0.10408	.	0.651748	0.13563	N	0.378629	T	0.31327	0.0793	L	0.27053	0.805	0.21967	N	0.999449	B;B;B	0.31485	0.325;0.286;0.121	B;B;B	0.24155	0.025;0.051;0.051	T	0.09975	-1.0650	10	0.26408	T	0.33	.	1.1652	0.01813	0.3135:0.0899:0.1624:0.4342	.	64;14;14	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	T	14;14;64	ENSP00000422581:K14T;ENSP00000317498:K14T;ENSP00000441236:K64T	ENSP00000317498:K14T	K	-	2	0	TRIML2	189263079	0.136000	0.22515	0.741000	0.31004	0.292000	0.27327	-0.055000	0.11807	-0.104000	0.12154	0.528000	0.53228	AAG	TRIML2	-	NULL	ENSG00000179046		0.378	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0	35	0	T	NM_173553	Missense_Mutation	189026085	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.866	G	G	189026085	T	G	189026085	5	3	41	1	0	0	0	0	0	0	1	0	16599	1623	56	4	1146	4	TRIML2	4	189026085	Splice_Site	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	47708819	189026085	2128191	74	10018											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	162001	162001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgccgtggtcagccaggCtgagtgcagggagggagagc	8	4	20	9	2	1	2	1	1	0	1	1	5	1	3	2	4	4	2	2	4	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:162001C>A	ENST00000283426.6	+	10	1573	c.1523C>A	c.(1522-1524)gCt>gAt	p.A508D		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	508							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCAGCCAGGCTGAGTGCAGG	0.637																																																	0													83	72	76					5																	162001		2203	4300	6503	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1523C>A	5.37:g.162001C>A	ENSP00000283426:p.Ala508Asp			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A508D	ENST00000283426.6	37	c.1523	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447804	0.26074	.	.	ENSG00000153404	ENST00000283426	D	0.92858	-3.12	2.42	2.42	0.29668	.	.	.	.	.	D	0.86422	0.5929	L	0.47190	1.495	0.19575	N	0.999966	B	0.26400	0.148	B	0.21360	0.034	T	0.72168	-0.4372	9	0.17369	T	0.5	.	8.555	0.33476	0.0:1.0:0.0:0.0	.	508	Q96PX9	PKH4B_HUMAN	D	508	ENSP00000283426:A508D	ENSP00000283426:A508D	A	+	2	0	PLEKHG4B	215001	0.954000	0.32549	0.006000	0.13384	0.130000	0.20726	1.447000	0.35101	1.055000	0.40461	0.460000	0.39030	GCT	PLEKHG4B	-	NULL	ENSG00000153404		0.637	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	-	0	37	0	C	NM_052909		162001	1	tier1	-	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.706	A	A	162001	C	A	162001	3	1	41	1	0	0	0	0	1	0	0	0	12111	797	28	3	1561	3	PLEKHG4B	5	162001	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09		162001	180753259	75	10019											
CDH12	1010	genome.wustl.edu	37	chr5	22078696	22078696	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcttggctctgtggctaaAgtctgctgtggctgtggttg	3	16	14	8	0	3	0	0	0	3	0	4	0	3	0	0	4	1	5	0	4	2	3	rs147719621		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:22078696A>C	ENST00000382254.1	-	5	1176	c.90T>G	c.(88-90)acT>acG	p.T30T	CDH12_ENST00000522262.1_Silent_p.T30T|CDH12_ENST00000504376.2_Silent_p.T30T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	30					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTGTGGCTAAAGTCTGCTGTG	0.463										HNSCC(59;0.17)			A|||	1	0.000199681	8e-04	0	5008	,	,		19250	0		0	False		,,,				2504	0																0								A		6,4400	11.4+/-27.6	0,6,2197	205	205	205		90	4.3	1	5	dbSNP_134	205	0,8600		0,0,4300	no	coding-synonymous	CDH12	NM_004061.3		0,6,6497	CC,CA,AA		0.0,0.1362,0.0461		30/795	22078696	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.90T>G	5.37:g.22078696A>C			B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T30	ENST00000382254.1	37	c.90	CCDS3890.1	5																																																																																			CDH12	-	NULL	ENSG00000154162		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	55	0	A	NM_004061		22078696	-1	tier1	rs147719621	no_errors	ENST00000382254	ensembl	human	known	74_37	silent	27.27	64	24	SNP	1.000	C	C	22078696	A	C	22078696	2	2	41	1	0	0	0	0	0	0	0	1	3105	59	3	4		4	CDH12	5	22078696	Silent	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	21916695	22078696	158836564	76	10020											
NAIP	4671	genome.wustl.edu	37	chr5	70308438	70308438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccggcaccaaagaggattAggctacagcagaagcactga	14	4	13	10	1	0	3	0	1	0	2	0	4	0	4	2	4	3	4	2	4	4	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:70308438A>G	ENST00000517649.1	-	4	595	c.305T>C	c.(304-306)cTa>cCa	p.L102P	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L102P|NAIP_ENST00000508426.2_Missense_Mutation_p.L102P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	102					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAAGAGGATTAGGCTACAGCA	0.493																																																	0													87	79	82					5																	70308438		2202	4296	6498	SO:0001583	missense	0			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"Baculoviral IAP repeat containing", "Nucleotide-binding domain and leucine rich repeat containing"	7634	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1", "NLR family, BIR domain containing 1"	600355	"baculoviral IAP repeat-containing 1"	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.305T>C	5.37:g.70308438A>G	ENSP00000428657:p.Leu102Pro		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	pfam_BIR,superfamily_P-loop_NTPase,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR	p.L102P	ENST00000517649.1	37	c.305	CCDS4009.1	5	.	.	.	.	.	.	.	.	.	.	a	10.88	1.475815	0.26511	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.73681	-0.77;-0.77;-0.77	3.26	3.26	0.37387	Baculoviral inhibition of apoptosis protein repeat (5);	1.251010	0.06506	N	0.737157	D	0.88702	0.6508	M	0.90198	3.095	0.48975	D	0.999731	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82645	-0.0355	10	0.51188	T	0.08	.	11.4969	0.50413	1.0:0.0:0.0:0.0	.	102;102	E7EQW0;Q13075	.;BIRC1_HUMAN	P	102	ENSP00000428657:L102P;ENSP00000443944:L102P;ENSP00000429545:L102P	ENSP00000443944:L102P	L	-	2	0	NAIP	70344194	0.008000	0.16893	0.927000	0.36925	0.063000	0.16089	1.169000	0.31871	1.722000	0.51474	0.358000	0.22013	CTA	NAIP	-	pfam_BIR,smart_BIR,pfscan_BIR	ENSG00000249437		0.493	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	HGNC	protein_coding	OTTHUMT00000372649.6	-	0	52	0	A	NM_004536		70308438	-1	tier1	-	no_errors	ENST00000194097	ensembl	human	known	74_37	missense	6.49	72	5	SNP	0.708	G	G	70308438	A	G	70308438	3	3	41	1	0	0	0	0	1	0	0	0	10185	420	15	4	3962	4	NAIP	5	70308438	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	48229742	70308438	110606822	77	10021											
MAP1B	4131	genome.wustl.edu	37	chr5	71482491	71482491	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagctgctcgtgctgacCgggcagtgctttgaaaatac	10	9	11	11	2	0	2	0	2	0	0	1	2	0	2	1	1	5	5	1	1	4	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:71482491C>A	ENST00000296755.7	+	4	718	c.420C>A	c.(418-420)acC>acA	p.T140T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	140					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCGTGCTGACCGGGCAGTGCT	0.517																																					Melanoma(17;367 822 11631 31730 47712)												0													119	116	117					5																	71482491		2203	4300	6503	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.420C>A	5.37:g.71482491C>A			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.T140	ENST00000296755.7	37	c.420	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	43	0	C	NM_005909		71482491	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.000	A	A	71482491	C	A	71482491	2	1	41	1	0	0	0	0	0	0	0	1	9266	639	23	2		2	MAP1B	5	71482491	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1174053	71482491	109432769	78	10022											
VCAN	1462	genome.wustl.edu	37	chr5	82817036	82817036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttatgtagactcttccCataccattcctctttctgta	8	17	3	13	0	3	1	0	0	3	1	5	1	5	1	3	0	2	2	3	0	5	8			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:82817036C>A	ENST00000265077.3	+	7	3476	c.2911C>A	c.(2911-2913)Cat>Aat	p.H971N	VCAN_ENST00000342785.4_Missense_Mutation_p.H971N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.H923N|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	971	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.H971N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGACTCTTCCCATACCATTCC	0.428																																																	1	Substitution - Missense(1)	prostate(1)											110	108	109					5																	82817036		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2911C>A	5.37:g.82817036C>A	ENSP00000265077:p.His971Asn		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.H971N	ENST00000265077.3	37	c.2911	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831876	0.32421	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.25579	1.79;1.79;1.79	5.78	4.03	0.46877	.	0.319207	0.27354	N	0.019751	T	0.30541	0.0768	L	0.60455	1.87	0.26223	N	0.979132	P;P	0.51933	0.949;0.791	P;B	0.49085	0.6;0.272	T	0.09729	-1.0661	10	0.33141	T	0.24	.	8.8198	0.35018	0.0:0.8285:0.0:0.1715	.	971;971	P13611-3;P13611	.;CSPG2_HUMAN	N	971;971;923	ENSP00000265077:H971N;ENSP00000342768:H971N;ENSP00000425959:H923N	ENSP00000265077:H971N	H	+	1	0	VCAN	82852792	0.002000	0.14202	0.884000	0.34674	0.605000	0.37080	0.301000	0.19174	0.808000	0.34231	-0.229000	0.12294	CAT	VCAN	-	NULL	ENSG00000038427		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	20	0	C	NM_004385		82817036	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.888	A	A	82817036	C	A	82817036	3	1	41	1	0	0	0	0	1	0	0	0	17187	594	21	3	2933	3	VCAN	5	82817036	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	11334545	82817036	98098224	79	10023											
LYSMD3	116068	genome.wustl.edu	37	chr5	89815283	89815284	+	Frame_Shift_Del	DEL	CT	CT	-																															atcactgatgagattgttaaCtctcttgatatctgctacct																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:89815283_89815284delCT	ENST00000315948.6	-	3	417_418	c.273_274delAG	c.(271-276)agagttfs	p.RV91fs	LYSMD3_ENST00000509384.1_Intron|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	91						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AGATTGTTAACTCTCTTGATAT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.273_274delAG	5.37:g.89815287_89815288delCT	ENSP00000314518:p.Arg91fs		Q5H9U0|Q6PEK0|Q9NTE9	Frame_Shift_Del	DEL	pfam_LysM_dom,smart_LysM_dom	p.R91fs	ENST00000315948.6	37	c.274_273	CCDS43338.1	5																																																																																			LYSMD3	-	pfam_LysM_dom,smart_LysM_dom	ENSG00000176018		0.361	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD3	HGNC	protein_coding	OTTHUMT00000369987.2		0	25	0	CT	XM_371760		89815284	-1	tier1		no_errors	ENST00000315948	ensembl	human	known	74_37	frame_shift_del	23.53	39	12	DEL	1.000:0.998	-	-	89815284	CT	-	89815283	7	5	41	1	0	1	0	1	0	0	0	0	9162	565	20	0	650	0	LYSMD3	5	89815283	Frame_Shift_Del	DEL	CT	TCGA-JY-A938-01A-11D-A37C-09	6998247	89815283	91099977	80	10024											
SLC27A6	28965	genome.wustl.edu	37	chr5	128351577	128351577	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacattttcttctaacaGagagaaggagaaaaggatca	19	9	8	5	0	3	3	1	0	2	3	3	6	3	4	0	2	2	0	0	2	6	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:128351577G>T	ENST00000262462.4	+	5	1979		c.e5-1		SLC27A6_ENST00000506176.1_Splice_Site|SLC27A6_ENST00000395266.1_Splice_Site			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6						long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTTCTAACAGAGAGAAGGAG	0.308																																																	0													86	88	87					5																	128351577		2203	4300	6503	SO:0001630	splice_region_variant	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.970-1G>T	5.37:g.128351577G>T			Q6IAM5|Q7Z6E6|Q86YF6	Splice_Site	SNP	-	e5-1	ENST00000262462.4	37	c.970-1	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578106	0.45902	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3065	0.87196	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC27A6	128379476	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	8.921000	0.92784	2.499000	0.84300	0.461000	0.40582	.	SLC27A6	-	-	ENSG00000113396		0.308	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1		0	28	0	G	NM_014031	Intron	128351577	1			no_errors	ENST00000262462	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	T	T	128351577	G	T	128351577	5	4	41	1	0	0	0	0	0	0	1	0	14575	956	33	3	987	3	SLC27A6	5	128351577	Splice_Site	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	38536294	128351577	52563683	81	10025											
PCDHA13	56136	genome.wustl.edu	37	chr5	140264177	140264177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatggccttcagtcccaGccttcctccttgtctgggtt	3	14	8	16	0	3	0	2	0	1	0	6	0	6	0	6	2	1	1	6	2	0	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:140264177G>T	ENST00000289272.2	+	1	2324	c.2324G>T	c.(2323-2325)aGc>aTc	p.S775I	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S775I|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	775	6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGTCCCAGCCTTCCTCCT	0.562																																					Melanoma(147;1739 1852 5500 27947 37288)												0													40	43	42					5																	140264177		2203	4300	6503	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2324G>T	5.37:g.140264177G>T	ENSP00000289272:p.Ser775Ile		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S775I	ENST00000289272.2	37	c.2324	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061681	0.55432	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.16073	2.37;2.37	4.61	2.45	0.29901	.	.	.	.	.	T	0.27594	0.0678	M	0.68593	2.085	0.09310	N	1	B;B;P	0.51653	0.246;0.212;0.947	B;B;P	0.57283	0.064;0.091;0.817	T	0.13629	-1.0502	9	0.48119	T	0.1	.	2.3012	0.04162	0.319:0.3113:0.3697:0.0	.	775;775;775	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	I	775	ENSP00000386821:S775I;ENSP00000289272:S775I	ENSP00000289272:S775I	S	+	2	0	PCDHA13	140244361	0.000000	0.05858	0.004000	0.12327	0.345000	0.29048	0.233000	0.17911	0.895000	0.36342	0.655000	0.94253	AGC	PCDHA13	-	NULL	ENSG00000239389		0.562	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	42	0	G	NM_018904		140264177	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.107	T	T	140264177	G	T	140264177	3	4	41	1	0	0	0	0	1	0	0	0	11562	971	34	3	2326	3	PCDHA13	5	140264177	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	11912600	140264177	40651083	82	10026											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140870262	140870262	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagatccagacactggggaTaatgcccgcctcacctactc	10	8	8	15	1	2	2	2	0	0	2	4	3	3	3	4	2	2	0	4	2	2	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:140870262T>C	ENST00000252087.1	+	1	1455	c.1455T>C	c.(1453-1455)gaT>gaC	p.D485D	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTGGGGATAATGCCCGCC	0.557																																																	0													109	116	114					5																	140870262		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1455T>C	5.37:g.140870262T>C			Q9Y5C2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D485	ENST00000252087.1	37	c.1455	CCDS4263.1	5																																																																																			PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.557	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0	27	0	T	NM_018929		140870262	1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	silent	19.57	36	9	SNP	0.526	C	C	140870262	T	C	140870262	2	2	41	1	0	0	0	0	0	0	0	1	11610	1403	49	4		4	PCDHGC5	5	140870262	Silent	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	606085	140870262	40044998	83	10027											
LARS	51520	genome.wustl.edu	37	chr5	145493695	145493695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccagatagattattgtatCgccaatatccacccttatcc	13	12	4	12	1	0	2	0	0	0	2	3	2	2	2	5	0	1	1	5	0	7	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:145493695C>T	ENST00000394434.2	-	32	3671	c.3505G>A	c.(3505-3507)Gat>Aat	p.D1169N	LARS_ENST00000274562.9_Missense_Mutation_p.D1142N|LARS_ENST00000510191.1_Missense_Mutation_p.D1115N|LARS_ENST00000545646.1_Missense_Mutation_p.D1123N|RP11-118M9.3_ENST00000514002.1_RNA	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1169					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATTATTGTATCGCCAATATCC	0.403																																																	0													153	146	149					5																	145493695		2203	4300	6503	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3505G>A	5.37:g.145493695C>T	ENSP00000377954:p.Asp1169Asn		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.D1169N	ENST00000394434.2	37	c.3505	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854799	0.32791	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.63913	-0.06;-0.06;-0.06;-0.07	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	L	0.57536	1.79	0.80722	D	1	B;D;B	0.89917	0.04;1.0;0.035	B;D;B	0.83275	0.007;0.996;0.016	T	0.70189	-0.4940	10	0.21014	T	0.42	.	18.7802	0.91928	0.0:1.0:0.0:0.0	.	1142;1123;1169	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	1169;1123;478;1115;1142	ENSP00000377954:D1169N;ENSP00000437791:D1123N;ENSP00000426005:D1115N;ENSP00000274562:D1142N	ENSP00000274562:D1142N	D	-	1	0	LARS	145473888	1.000000	0.71417	0.597000	0.28824	0.160000	0.22226	5.605000	0.67634	2.544000	0.85801	0.563000	0.77884	GAT	LARS	-	NULL	ENSG00000133706		0.403	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	-	0	50	0	C	NM_020117		145493695	-1	tier1	-	no_errors	ENST00000394434	ensembl	human	known	74_37	missense	32.39	48	23	SNP	1.000	T	T	145493695	C	T	145493695	3	4	41	1	0	0	0	0	1	0	0	0	8662	884	31	1	29	1	LARS	5	145493695	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	4623433	145493695	35421565	84	10028											
CYFIP2	26999	genome.wustl.edu	37	chr5	156721867	156721867	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcccgggccattcccAggtgagactgtccttgttgt	4	13	12	12	1	0	1	0	1	0	1	3	2	3	1	4	2	0	3	4	2	0	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:156721867A>C	ENST00000347377.6	+	4	714	c.283A>C	c.(283-285)Aag>Cag	p.K95Q	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Splice_Site_p.K95Q|CYFIP2_ENST00000318218.6_Splice_Site_p.R95R|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron	NM_001037332.2	NP_001032409.2			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCCATTCCCAGGTGAGACTG	0.522																																																	0													112	119	117					5																	156721867		2135	4278	6413	SO:0001630	splice_region_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000347377.6:c.283+1A>C	5.37:g.156721867A>C				Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.K95Q	ENST00000347377.6	37	c.283		5	.	.	.	.	.	.	.	.	.	.	A	9.216	1.032200	0.19590	.	.	ENSG00000055163	ENST00000347377;ENST00000377576	T;T	0.42900	0.96;0.96	4.94	4.94	0.65067	.	.	.	.	.	T	0.28333	0.0700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07028	-1.0794	6	0.02654	T	1	-0.5578	14.6003	0.68435	1.0:0.0:0.0:0.0	rs5872508;rs57071507	.	.	.	Q	95	ENSP00000313567:K95Q;ENSP00000366799:K95Q	ENSP00000313567:K95Q	K	+	1	0	CYFIP2	156654445	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.894000	0.75655	1.852000	0.53769	0.460000	0.39030	AAG	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.522	CYFIP2-202	KNOWN	basic|appris_principal	protein_coding	CYFIP2	HGNC	protein_coding			0	50	0	A	NM_001037332	Missense_Mutation	156721867	1			no_errors	ENST00000347377	ensembl	human	known	74_37	missense	7.69	84	7	SNP	1.000	C	C	156721867	A	C	156721867	5	2	41	1	0	0	0	0	0	0	1	0	4147	202	7	4	293	4	CYFIP2	5	156721867	Splice_Site	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	11228172	156721867	24193393	85	10029											
MAPK9	5601	genome.wustl.edu	37	chr5	179668157	179668157	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatctctggcttgacttgcTagggtgacaacaaatattaa	13	12	9	7	0	1	3	0	2	1	1	2	3	1	3	0	2	2	2	0	2	5	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:179668157T>C	ENST00000452135.2	-	9	1170		c.e9-2		MAPK9_ENST00000347470.4_Splice_Site|MAPK9_ENST00000343111.6_Splice_Site|MAPK9_ENST00000393360.3_Splice_Site|MAPK9_ENST00000455781.1_Splice_Site|MAPK9_ENST00000397072.3_Splice_Site|MAPK9_ENST00000524170.1_5'Flank			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGACTTGCTAGGGTGACAA	0.343																																																	0													140	144	142					5																	179668157		2203	4300	6503	SO:0001630	splice_region_variant	0			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.872-2A>G	5.37:g.179668157T>C			A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Splice_Site	SNP	-	e8-2	ENST00000452135.2	37	c.872-2	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701913	0.30232	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0847	0.64949	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAPK9	179600763	1.000000	0.71417	0.917000	0.36280	0.110000	0.19582	7.830000	0.86741	2.063000	0.61619	0.528000	0.53228	.	MAPK9	-	-	ENSG00000050748		0.343	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3		0	22	0	T		Intron	179668157	-1			no_errors	ENST00000452135	ensembl	human	known	74_37	splice_site	5.13	37	2	SNP	1.000	C	C	179668157	T	C	179668157	5	2	41	1	0	0	0	0	0	0	1	0	9325	1536	53	4	425	4	MAPK9	5	179668157	Splice_Site	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	22946290	179668157	1247103	86	10030											
HIST1H2BK	85236	genome.wustl.edu	37	chr6	27114372	27114372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgatgcgttcgaagatgTcgttgacgaaggagttcatg	9	10	14	8	6	1	2	1	1	0	1	3	6	1	3	1	1	1	3	1	1	2	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:27114372T>C	ENST00000356950.1	-	1	205	c.206A>G	c.(205-207)gAc>gGc	p.D69G	HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.D69G			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	69					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTCGAAGATGTCGTTGACGAA	0.592																																																	0													143	134	137					6																	27114372		2203	4300	6503	SO:0001583	missense	0			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"Histones / Replication-dependent"	13954	protein-coding gene	gene with protein product		615045	"H2B histone family, member T", "histone 1, H2bk"	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.206A>G	6.37:g.27114372T>C	ENSP00000349430:p.Asp69Gly		A8K7P7|Q2VPI7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.D69G	ENST00000356950.1	37	c.206	CCDS4621.1	6	.	.	.	.	.	.	.	.	.	.	.	17.64	3.438906	0.63067	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.28895	1.59;1.59	3.82	3.82	0.43975	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.56171	0.1967	H	0.98133	4.155	0.42466	D	0.992801	P	0.43909	0.821	P	0.55749	0.783	T	0.70004	-0.4991	9	0.87932	D	0	.	11.2029	0.48751	0.0:0.0:0.0:1.0	.	69	O60814	H2B1K_HUMAN	G	69	ENSP00000380100:D69G;ENSP00000349430:D69G	ENSP00000349430:D69G	D	-	2	0	HIST1H2BK	27222351	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.476000	0.66793	1.692000	0.51112	0.528000	0.53228	GAC	HIST1H2BK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197903		0.592	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1	-	0	151	0	T	NM_080593		27114372	-1	tier1	-	no_errors	ENST00000356950	ensembl	human	known	74_37	missense	14.91	135	24	SNP	1.000	C	C	27114372	T	C	27114372	3	2	41	1	0	0	0	0	1	0	0	0	7177	1667	58	4	178	4	HIST1H2BK	6	27114372	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09		27114372	144000695	87	10031											
MOG	4340	genome.wustl.edu	37	chr6	29638954	29638954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccttcttctaggaaatCccttctgagtgatgtcacat	8	16	6	11	0	5	2	1	2	4	0	7	3	6	3	2	1	0	0	2	1	2	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:29638954C>A	ENST00000376917.3	+	8	965	c.736C>A	c.(736-738)Ccc>Acc	p.P246T	MOG_ENST00000494692.1_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.P208T|MOG_ENST00000396701.2_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000483013.1_Missense_Mutation_p.P91T|MOG_ENST00000431798.2_Missense_Mutation_p.P207T|MOG_ENST00000490427.1_Missense_Mutation_p.P107T|MOG_ENST00000376894.4_3'UTR|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376888.2_Missense_Mutation_p.P130T|MOG_ENST00000533330.2_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.P223T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	246					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCTAGGAAATCCCTTCTGAGT	0.453																																																	0													120	126	124					6																	29638954		1510	2709	4219	SO:0001583	missense	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.736C>A	6.37:g.29638954C>A	ENSP00000366115:p.Pro246Thr		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P246T	ENST00000376917.3	37	c.736	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189726	0.57909	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000431798;ENST00000396704	T;T;T;T;T;T;T	0.36157	3.27;1.27;1.45;1.35;3.01;3.49;3.34	4.9	4.9	0.64082	.	.	.	.	.	T	0.44159	0.1280	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.728;1.0;0.999;1.0	D;D;D;B;D;D;D	0.87578	0.998;0.998;0.997;0.272;0.998;0.991;0.998	T	0.40232	-0.9574	9	0.87932	D	0	.	15.9586	0.79910	0.0:1.0:0.0:0.0	.	91;107;176;207;223;246;130	E9PG44;E9PGF0;B7Z2X8;Q16653-2;Q16653-3;Q16653;Q16653-4	.;.;.;.;.;MOG_HUMAN;.	T	246;130;91;107;208;207;223	ENSP00000366115:P246T;ENSP00000366085:P130T;ENSP00000418090:P91T;ENSP00000420350:P107T;ENSP00000409394:P208T;ENSP00000410866:P207T;ENSP00000379932:P223T	ENSP00000366085:P130T	P	+	1	0	MOG	29746933	1.000000	0.71417	0.999000	0.59377	0.370000	0.29829	3.502000	0.53332	2.710000	0.92621	0.557000	0.71058	CCC	MOG	-	pirsf_Myelin-oligodendrocyte_glycop	ENSG00000204655		0.453	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3	-	0	44	0	C	NM_002433		29638954	1	tier1	-	no_errors	ENST00000376917	ensembl	human	known	74_37	missense	25.56	67	23	SNP	1.000	A	A	29638954	C	A	29638954	3	1	41	1	0	0	0	0	1	0	0	0	9731	855	30	3	902	3	MOG	6	29638954	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	2524582	29638954	141476113	88	10032											
SLC44A4	80736	genome.wustl.edu	37	chr6	31838676	31838676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggcgcccttgtcccGcagcactcggtactcctccc	5	8	11	17	3	0	0	0	0	0	0	4	2	3	1	4	3	2	3	4	3	1	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:31838676G>A	ENST00000229729.6	-	10	870	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	SLC44A4_ENST00000375562.4_Missense_Mutation_p.R242W|SLC44A4_ENST00000544672.1_Missense_Mutation_p.R208W	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	284					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCCTTGTCCCGCAGCACTCGG	0.662																																																	0													68	57	61					6																	31838676		1511	2709	4220	SO:0001583	missense	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.850C>T	6.37:g.31838676G>A	ENSP00000229729:p.Arg284Trp		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.R284W	ENST00000229729.6	37	c.850	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140840	0.37825	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.12465	3.04;2.68;2.87	4.38	2.51	0.30379	.	0.331618	0.29046	N	0.013302	T	0.06645	0.0170	M	0.71581	2.175	0.34085	D	0.660046	P;B	0.35077	0.483;0.351	B;B	0.25759	0.063;0.063	T	0.08452	-1.0721	10	0.87932	D	0	-29.5861	11.4263	0.50012	0.0:0.0:0.3962:0.6037	.	242;284	E9PEK7;Q53GD3	.;CTL4_HUMAN	W	284;242;208	ENSP00000229729:R284W;ENSP00000364712:R242W;ENSP00000444109:R208W	ENSP00000229729:R284W	R	-	1	2	SLC44A4	31946655	0.018000	0.18449	0.985000	0.45067	0.881000	0.50899	0.952000	0.29149	0.549000	0.28973	-0.314000	0.08810	CGG	SLC44A4	-	NULL	ENSG00000204385		0.662	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3		0	32	0	G			31838676	-1			no_errors	ENST00000229729	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.983	A	A	31838676	G	A	31838676	3	1	41	1	0	0	0	0	1	0	0	0	14683	1086	38	1	1330	1	SLC44A4	6	31838676	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2199722	31838676	139276391	89	10033											
CYP21A2	1589	genome.wustl.edu	37	chr6	32008813	32008813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgccctgccctccctgcagCccctgccccactgcagtgtc	4	7	8	22	1	0	0	0	0	0	0	2	0	1	0	7	0	5	2	7	0	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:32008813C>T	ENST00000418967.2	+	10	1548	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P434S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	463					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	CTCCCTGCAGCCCCTGCCCCA	0.711																																					Melanoma(174;1669 1998 3915 34700 46447)												0													3	3	3					6																	32008813		1142	2190	3332	SO:0001583	missense	0			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1390C>T	6.37:g.32008813C>T	ENSP00000408860:p.Pro464Ser		A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P464S	ENST00000418967.2	37	c.1390	CCDS4735.1	6	.	.	.	.	.	.	.	.	.	.	c	18.50	3.636737	0.67130	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.67698	-0.28;-0.28	4.75	4.75	0.60458	.	0.000000	0.48286	D	0.000188	T	0.70833	0.3269	M	0.69823	2.125	0.33896	D	0.637939	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.67457	-0.5666	10	0.18710	T	0.47	.	13.431	0.61055	0.0:1.0:0.0:0.0	.	434;464	Q5ST44;Q16874	.;.	S	464;434	ENSP00000408860:P464S;ENSP00000415043:P434S	ENSP00000408860:P464S	P	+	1	0	CYP21A2	32116792	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	3.229000	0.51278	2.634000	0.89283	0.651000	0.88453	CCC	CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000231852		0.711	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	-	0	43	0	C	NM_000500		32008813	1	tier1	-	no_errors	ENST00000418967	ensembl	human	known	74_37	missense	15.28	61	11	SNP	0.999	T	T	32008813	C	T	32008813	3	4	41	1	0	0	0	0	1	0	0	0	4162	739	26	3	2949	3	CYP21A2	6	32008813	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	170137	32008813	139106254	90	10034											
GPR115	221393	genome.wustl.edu	37	chr6	47682565	47682565	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgggtgcccattgatCattgctgtcactacagttgc	7	13	11	10	0	2	1	2	1	0	0	2	1	2	1	1	2	4	3	1	2	2	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:47682565C>A	ENST00000283303.2	+	6	1842	c.1584C>A	c.(1582-1584)atC>atA	p.I528I	GPR115_ENST00000371220.1_Silent_p.I585I|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.I528I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	528					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCCATTGATCATTGCTGTCA	0.453																																					GBM(22;431 510 9010 26644 32828)												0													177	167	170					6																	47682565		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1584C>A	6.37:g.47682565C>A			B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.I585	ENST00000283303.2	37	c.1755	CCDS4922.2	6																																																																																			GPR115	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000153294		0.453	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2		0	58	0	C	NM_153838		47682565	1			no_errors	ENST00000371220	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	A	A	47682565	C	A	47682565	2	1	41	1	0	0	0	0	0	0	0	1	6658	816	29	3		3	GPR115	6	47682565	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	15673752	47682565	123432502	91	10035											
BAI3	577	genome.wustl.edu	37	chr6	69723965	69723965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttagcaaccttctagatgaAgaaaacaaggaaaaatggga	19	7	10	5	0	1	3	0	1	1	2	1	5	1	5	1	2	3	2	1	2	9	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:69723965A>C	ENST00000370598.1	+	12	2786	c.1965A>C	c.(1963-1965)gaA>gaC	p.E655D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	655					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTAGATGAAGAAAACAAGG	0.284																																																	0													63	65	64					6																	69723965		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1965A>C	6.37:g.69723965A>C	ENSP00000359630:p.Glu655Asp		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E655D	ENST00000370598.1	37	c.1965	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987858	0.74589	.	.	ENSG00000135298	ENST00000370598	T	0.10382	2.88	5.76	5.76	0.90799	Domain of unknown function DUF3497 (1);	0.055265	0.64402	D	0.000001	T	0.11965	0.0291	L	0.50333	1.59	0.80722	D	1	D	0.53885	0.963	P	0.51453	0.67	T	0.01319	-1.1386	10	0.46703	T	0.11	.	16.0602	0.80834	1.0:0.0:0.0:0.0	.	655	O60242	BAI3_HUMAN	D	655	ENSP00000359630:E655D	ENSP00000359630:E655D	E	+	3	2	BAI3	69780686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.148000	0.64857	2.202000	0.70862	0.533000	0.62120	GAA	BAI3	-	pfam_DUF3497	ENSG00000135298		0.284	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	37	0	A			69723965	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	11.39	70	9	SNP	1.000	C	C	69723965	A	C	69723965	3	2	41	1	0	0	0	0	1	0	0	0	1301	69	3	4	2003	4	BAI3	6	69723965	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	22041400	69723965	101391102	92	10036											
AMD1	262	genome.wustl.edu	37	chr6	111208746	111208746	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgaaggatgtgcaatgttCaatcataagtgtgacaaaaa	16	12	9	4	0	2	2	2	2	0	0	2	3	2	3	0	1	1	2	0	1	6	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:111208746C>G	ENST00000368885.3	+	2	485	c.149C>G	c.(148-150)tCa>tGa	p.S50*	AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Intron|AMD1_ENST00000368882.3_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	50					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTGCAATGTTCAATCATAAGT	0.338																																																	0													179	173	175					6																	111208746		2203	4300	6503	SO:0001587	stop_gained	0			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"S-adenosylmethionine decarboxylase 1"				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.149C>G	6.37:g.111208746C>G	ENSP00000357880:p.Ser50*		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Nonsense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.S50*	ENST00000368885.3	37	c.149	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	C	38	7.161758	0.98103	.	.	ENSG00000123505	ENST00000368885	.	.	.	5.46	4.36	0.52297	.	0.141719	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	4.0319	0.09713	0.0:0.6752:0.0:0.3248	.	.	.	.	X	50	.	ENSP00000357880:S50X	S	+	2	0	AMD1	111315439	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.769000	0.68865	2.721000	0.93114	0.591000	0.81541	TCA	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	ENSG00000123505		0.338	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	-	0	50	0	C			111208746	1	tier1	-	no_errors	ENST00000368885	ensembl	human	known	74_37	nonsense	14.55	47	8	SNP	1.000	G	G	111208746	C	G	111208746	4	3	41	1	0	0	0	0	0	1	0	0	566	838	29	5	155	5	AMD1	6	111208746	Nonsense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	41484781	111208746	59906321	93	10037											
RAB32	10981	genome.wustl.edu	37	chr6	146870763	146870763	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcagccctatccctgcTgtcctcttggctaacaaatg	9	11	8	13	0	1	0	0	0	1	0	3	0	3	0	3	2	3	3	3	2	4	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:146870763T>G	ENST00000367495.3	+	2	593	c.414T>G	c.(412-414)gcT>gcG	p.A138A		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	138					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		CTATCCCTGCTGTCCTCTTGG	0.443																																																	0													95	89	91					6																	146870763		2203	4300	6503	SO:0001819	synonymous_variant	0			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"RAB, member RAS oncogene", "A-kinase anchor proteins"	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.414T>G	6.37:g.146870763T>G				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A138	ENST00000367495.3	37	c.414	CCDS5210.1	6																																																																																			RAB32	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000118508		0.443	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB32	HGNC	protein_coding	OTTHUMT00000042579.1	-	0	42	0	T	NM_006834		146870763	1	tier1	-	no_errors	ENST00000367495	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.959	G	G	146870763	T	G	146870763	2	3	41	1	0	0	0	0	0	0	0	1	12966	1567	55	4		4	RAB32	6	146870763	Silent	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	35662017	146870763	24244304	94	10038											
LPA	4018	genome.wustl.edu	37	chr6	160999556	160999556	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaccacaaatttcttaccTtgttcagaaggagcctctgt	11	13	6	11	0	3	1	1	0	2	1	3	2	3	2	3	1	3	1	3	1	4	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:160999556T>A	ENST00000316300.5	-	27	4514	c.4470A>T	c.(4468-4470)caA>caT	p.Q1490H	LPA_ENST00000447678.1_Splice_Site_p.Q1490H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3998	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Q1490H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTTCTTACCTTGTTCAGAAG	0.483																																																	1	Substitution - Missense(1)	lung(1)											128	132	131					6																	160999556		1993	4196	6189	SO:0001630	splice_region_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4471+1A>T	6.37:g.160999556T>A			Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.Q1490H	ENST00000316300.5	37	c.4470	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	t	12.71	2.020358	0.35606	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87334	-2.24;-2.24	2.37	2.37	0.29283	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.76941	0.4058	L	0.47716	1.5	0.80722	D	1	P	0.45531	0.86	P	0.48654	0.585	T	0.75025	-0.3463	9	0.41790	T	0.15	.	4.1337	0.10160	0.0:0.1773:0.0:0.8227	.	3998	P08519	APOA_HUMAN	H	1490	ENSP00000321334:Q1490H;ENSP00000395608:Q1490H	ENSP00000321334:Q1490H	Q	-	3	2	LPA	160919546	1.000000	0.71417	0.046000	0.18839	0.088000	0.18126	2.667000	0.46808	1.075000	0.40932	0.147000	0.16070	CAA	LPA	-	superfamily_Kringle-like	ENSG00000198670		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1		0	49	0	T	NM_005577	Missense_Mutation	160999556	-1			no_errors	ENST00000316300	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.154	A	A	160999556	T	A	160999556	5	1	41	1	0	0	0	0	0	0	1	0	8938	1623	56	5	1704	5	LPA	6	160999556	Splice_Site	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	14128793	160999556	10115511	95	10039											
DAGLB	221955	genome.wustl.edu	37	chr7	6449537	6449537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgctctgtcggagaccacGctgtccaaggcccgcatcag	7	6	12	16	4	2	1	1	0	1	1	4	2	3	1	4	2	0	3	4	2	1	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:6449537G>T	ENST00000297056.6	-	15	2119	c.1950C>A	c.(1948-1950)agC>agA	p.S650R	DAGLB_ENST00000436575.1_Missense_Mutation_p.S609R|DAGLB_ENST00000425398.2_Missense_Mutation_p.S521R	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	650					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CGGAGACCACGCTGTCCAAGG	0.597																																																	0													104	98	100					7																	6449537		2203	4300	6503	SO:0001583	missense	0			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1950C>A	7.37:g.6449537G>T	ENSP00000297056:p.Ser650Arg		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	pfam_Lipase_3	p.S650R	ENST00000297056.6	37	c.1950	CCDS5350.1	7	.	.	.	.	.	.	.	.	.	.	.	8.364	0.833802	0.16820	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.33654	1.4;1.4;1.4	5.65	-5.03	0.02973	.	0.581381	0.19937	N	0.102724	T	0.20333	0.0489	L	0.38838	1.175	0.09310	N	1	B;B;B;B	0.23891	0.093;0.019;0.006;0.033	B;B;B;B	0.18263	0.021;0.005;0.003;0.012	T	0.21415	-1.0246	10	0.19147	T	0.46	-4.5328	9.9876	0.41852	0.6869:0.0:0.2112:0.1019	.	521;464;650;347	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	R	650;521;609	ENSP00000297056:S650R;ENSP00000391171:S521R;ENSP00000404785:S609R	ENSP00000297056:S650R	S	-	3	2	DAGLB	6416062	0.000000	0.05858	0.004000	0.12327	0.392000	0.30506	-1.430000	0.02434	-0.942000	0.03695	-0.355000	0.07637	AGC	DAGLB	-	NULL	ENSG00000164535		0.597	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2		0	36	0	G	NM_139179		6449537	-1			no_errors	ENST00000297056	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.005	T	T	6449537	G	T	6449537	3	4	41	1	0	0	0	0	1	0	0	0	4236	1078	38	2	72	2	DAGLB	7	6449537	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09		6449537	152689126	96	10040											
ICA1	3382	genome.wustl.edu	37	chr7	8178478	8178478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaatcttaccaccttccTcagatttcatgtctaatagt	12	15	3	11	0	4	1	2	0	2	1	5	1	5	1	3	0	1	0	3	0	5	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:8178478T>C	ENST00000402384.3	-	12	1318	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	ICA1_ENST00000265577.7_Missense_Mutation_p.E350G|ICA1_ENST00000396675.3_Missense_Mutation_p.E351G|ICA1_ENST00000401396.1_Missense_Mutation_p.E339G|ICA1_ENST00000406470.2_Missense_Mutation_p.E351G|ICA1_ENST00000422063.2_Missense_Mutation_p.E380G			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	351					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ACCACCTTCCTCAGATTTCAT	0.284																																																	0													84	96	92					7																	8178478		2201	4297	6498	SO:0001583	missense	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"islet cell autoantigen 1 (69kD)"			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1052A>G	7.37:g.8178478T>C	ENSP00000385570:p.Glu351Gly		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom	p.E380G	ENST00000402384.3	37	c.1139	CCDS34602.1	7	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598401	0.46318	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.02	1.17	0.20885	Islet cell autoantigen Ica1, C-terminal (1);	0.446512	0.25634	N	0.029324	T	0.46054	0.1373	L	0.46157	1.445	0.45005	D	0.998023	P;B;P;B	0.42556	0.783;0.193;0.505;0.001	P;B;B;B	0.46796	0.527;0.185;0.305;0.001	T	0.30650	-0.9971	9	0.44086	T	0.13	-14.8892	4.961	0.14066	0.0:0.1753:0.158:0.6667	.	380;350;351;339	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	G	351;351;350;351;339;380	.	ENSP00000265577:E350G	E	-	2	0	ICA1	8145003	0.123000	0.22298	0.996000	0.52242	0.817000	0.46193	0.933000	0.28897	0.490000	0.27771	0.533000	0.62120	GAG	ICA1	-	pfam_Islet_autoAg_Ica1_C	ENSG00000003147		0.284	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	-	0	48	0	T	NM_004968		8178478	-1	tier1	-	no_errors	ENST00000422063	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.986	C	C	8178478	T	C	8178478	3	2	41	1	0	0	0	0	1	0	0	0	7504	1551	54	4	411	4	ICA1	7	8178478	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	1728941	8178478	150960185	97	10041											
SP8	221833	genome.wustl.edu	37	chr7	20824098	20824098	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcttgctgaggtggtcGctgcgcatgaagcgcttgtt	5	12	15	9	4	0	2	0	2	0	0	1	2	0	2	0	2	4	6	0	2	1	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:20824098G>A	ENST00000361443.4	-	3	1521	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	SP8_ENST00000418710.2_Silent_p.S446S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	428					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						TGAGGTGGTCGCTGCGCATGA	0.701																																																	0													15	13	14					7																	20824098		2113	4183	6296	SO:0001819	synonymous_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.1284C>T	7.37:g.20824098G>A			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.S446	ENST00000361443.4	37	c.1338	CCDS5372.1	7																																																																																			SP8	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164651		0.701	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2	-	0	19	0	G			20824098	-1	tier1	-	no_errors	ENST00000418710	ensembl	human	known	74_37	silent	29.41	24	10	SNP	1.000	A	A	20824098	G	A	20824098	2	1	41	1	0	0	0	0	0	0	0	1	15015	1078	38	1		1	SP8	7	20824098	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	12645620	20824098	138314565	98	10042											
SFRP4	6424	genome.wustl.edu	37	chr7	37955709	37955709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccctccgggaggtccGtgacgatggcttcaggcgag	6	7	14	14	4	2	1	2	1	0	0	4	4	4	2	4	4	0	1	4	4	0	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:37955709G>A	ENST00000436072.2	-	1	808	c.431C>T	c.(430-432)aCg>aTg	p.T144M	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	144					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGGGAGGTCCGTGACGATGGC	0.647																																																	0													46	44	45					7																	37955709		2203	4300	6503	SO:0001583	missense	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"Secreted frizzled-related proteins"	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.431C>T	7.37:g.37955709G>A	ENSP00000410715:p.Thr144Met		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.T144M	ENST00000436072.2	37	c.431	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340200	0.60963	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.66460	-0.21	4.08	4.08	0.47627	Frizzled domain (1);	0.171992	0.51477	D	0.000084	T	0.70587	0.3241	L	0.38175	1.15	0.41610	D	0.988903	D	0.89917	1.0	P	0.59288	0.855	T	0.75246	-0.3385	10	0.66056	D	0.02	.	15.2	0.73130	0.0:0.0:1.0:0.0	.	144	Q6FHJ7	SFRP4_HUMAN	M	144;141	ENSP00000410715:T144M	ENSP00000410715:T144M	T	-	2	0	SFRP4	37922234	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.103000	0.77014	2.097000	0.63578	0.650000	0.86243	ACG	SFRP4	-	superfamily_Frizzled_dom	ENSG00000106483		0.647	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	-	0	31	0	G	NM_003014		37955709	-1	tier1	-	no_errors	ENST00000436072	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.987	A	A	37955709	G	A	37955709	3	1	41	1	0	0	0	0	1	0	0	0	14208	1145	40	1	633	1	SFRP4	7	37955709	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	17131611	37955709	121182954	99	10043											
PON3	5446	genome.wustl.edu	37	chr7	94991762	94991762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtctcctgtggcaggaTcgacagtcaggttatccact	10	11	10	10	1	2	0	1	0	1	0	5	2	3	1	2	3	0	2	2	3	2	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:94991762T>A	ENST00000265627.5	-	8	828	c.818A>T	c.(817-819)gAt>gTt	p.D273V	PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	273					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TGTGGCAGGATCGACAGTCAG	0.458																																																	0													80	75	76					7																	94991762		2203	4300	6503	SO:0001583	missense	0			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.818A>T	7.37:g.94991762T>A	ENSP00000265627:p.Asp273Val		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.D273V	ENST00000265627.5	37	c.818	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788393	0.70337	.	.	ENSG00000105852	ENST00000265627	T	0.59083	0.29	4.98	4.98	0.66077	Six-bladed beta-propeller, TolB-like (1);	0.045132	0.85682	D	0.000000	T	0.79251	0.4414	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83807	0.0239	10	0.87932	D	0	-25.2577	14.8234	0.70091	0.0:0.0:0.0:1.0	.	273	Q15166	PON3_HUMAN	V	273	ENSP00000265627:D273V	ENSP00000265627:D273V	D	-	2	0	PON3	94829698	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	6.392000	0.73213	2.224000	0.72417	0.528000	0.53228	GAT	PON3	-	pfam_SGL,prints_Arylesterase	ENSG00000105852		0.458	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	-	0	22	0	T	NM_000940		94991762	-1	tier1	-	no_errors	ENST00000265627	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	A	A	94991762	T	A	94991762	3	1	41	1	0	0	0	0	1	0	0	0	12289	1435	50	5	254	5	PON3	7	94991762	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	57036053	94991762	64146901	100	10044											
PTCD1	26024	genome.wustl.edu	37	chr7	99022859	99022859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctccacgggaggtggCttcagggccactgcggtgag	6	7	16	12	2	1	1	1	1	0	0	3	2	3	2	3	5	2	2	3	5	0	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:99022859C>T	ENST00000292478.4	-	6	1546	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.K481K|PTCD1_ENST00000555673.1_Silent_p.K481K	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	432					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CGGGAGGTGGCTTCAGGGCCA	0.662																																																	0													92	91	91					7																	99022859		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1296G>A	7.37:g.99022859C>T			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.K481	ENST00000292478.4	37	c.1443	CCDS34691.1	7																																																																																			ATP5J2-PTCD1	-	NULL	ENSG00000248919		0.662	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	-	0	45	0	C	NM_015545		99022859	-1	tier1	-	no_errors	ENST00000413834	ensembl	human	known	74_37	silent	17.50	66	14	SNP	0.000	T	T	99022859	C	T	99022859	2	4	41	1	0	0	0	0	0	0	0	1	12769	796	28	3		3	PTCD1	7	99022859	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	4031097	99022859	60115804	101	10045											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113519496	113519496	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccaatccctgccacacTtattttagggttacccatct	9	13	5	14	0	1	0	0	0	1	0	3	0	3	0	4	1	3	2	4	1	4	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:113519496T>G	ENST00000284601.3	-	4	1719	c.1651A>C	c.(1651-1653)Agt>Cgt	p.S551R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	551					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTGCCACACTTATTTTAGGG	0.413																																																	0													103	96	98					7																	113519496		2203	4300	6503	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1651A>C	7.37:g.113519496T>G	ENSP00000284601:p.Ser551Arg		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S551R	ENST00000284601.3	37	c.1651	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183747	0.38609	.	.	ENSG00000154415	ENST00000284601	T	0.18502	2.21	5.91	3.23	0.37069	.	0.572253	0.18110	N	0.151394	T	0.14830	0.0358	L	0.59436	1.845	0.09310	N	1	P	0.45902	0.868	B	0.36666	0.23	T	0.19353	-1.0308	10	0.72032	D	0.01	-0.4473	7.0056	0.24833	0.0:0.152:0.1284:0.7196	.	551	Q16821	PPR3A_HUMAN	R	551	ENSP00000284601:S551R	ENSP00000284601:S551R	S	-	1	0	PPP1R3A	113306732	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.393000	0.20817	1.064000	0.40671	0.533000	0.62120	AGT	PPP1R3A	-	NULL	ENSG00000154415		0.413	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0	47	0	T	NM_002711		113519496	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	19.12	55	13	SNP	0.000	G	G	113519496	T	G	113519496	3	3	41	1	0	0	0	0	1	0	0	0	12413	1609	56	4	1721	4	PPP1R3A	7	113519496	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	14496637	113519496	45619167	102	10046											
MDFIC	29969	genome.wustl.edu	37	chr7	114582414	114582414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggagagatgcaagaccagtCcatttggggaaatccttcgg	11	9	13	8	1	0	2	0	0	0	2	3	5	2	4	3	4	1	1	3	4	2	2	rs145872153	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:114582414C>G	ENST00000393486.1	+	3	769	c.179C>G	c.(178-180)tCc>tGc	p.S60C	MDFIC_ENST00000257724.3_Missense_Mutation_p.S169C	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CAAGACCAGTCCATTTGGGGA	0.338																																																	0													74	73	73					7																	114582414		2203	4300	6503	SO:0001583	missense	0			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.179C>G	7.37:g.114582414C>G	ENSP00000377126:p.Ser60Cys			Missense_Mutation	SNP	NULL	p.S60C	ENST00000393486.1	37	c.179	CCDS55155.1	7	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965982	0.53507	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.73	3.93	0.45458	.	0.565722	0.18219	N	0.147953	T	0.67468	0.2896	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.68845	-0.5301	9	0.72032	D	0.01	-17.1792	10.2817	0.43543	0.0:0.844:0.0:0.156	.	60	Q9P1T7	MDFIC_HUMAN	C	169;60;46;5	.	ENSP00000257724:S169C	S	+	2	0	MDFIC	114369650	0.751000	0.28327	0.994000	0.49952	0.466000	0.32739	2.777000	0.47717	0.889000	0.36185	0.655000	0.94253	TCC	MDFIC	-	NULL	ENSG00000135272		0.338	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDFIC	HGNC	protein_coding	OTTHUMT00000059968.4	-	0	52	0	C	NM_199072		114582414	1	tier1	-	no_errors	ENST00000393486	ensembl	human	known	74_37	missense	19.75	65	16	SNP	0.988	G	G	114582414	C	G	114582414	3	3	41	1	0	0	0	0	1	0	0	0	9443	855	30	5	558	5	MDFIC	7	114582414	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1062918	114582414	44556249	103	10047											
PLXNA4	91584	genome.wustl.edu	37	chr7	131872279	131872279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccaccacgttgcttcCggcattcaggttggtgcctg	6	11	10	14	2	2	0	2	0	0	0	3	0	3	0	4	3	2	4	4	3	0	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:131872279C>T	ENST00000359827.3	-	15	3906	c.2944G>A	c.(2944-2946)Gga>Aga	p.G982R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G982R			Q9HCM2	PLXA4_HUMAN	plexin A4	982	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G982*(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACGTTGCTTCCGGCATTCAGG	0.567																																																	2	Substitution - Nonsense(2)	lung(2)											206	222	216					7																	131872279		2108	4245	6353	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2944G>A	7.37:g.131872279C>T	ENSP00000352882:p.Gly982Arg		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G982R	ENST00000359827.3	37	c.2944	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.217110	0.95104	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.75821	-0.97;-0.97	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87229	0.2259	10	0.87932	D	0	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	982	Q9HCM2	PLXA4_HUMAN	R	982	ENSP00000323194:G982R;ENSP00000352882:G982R	ENSP00000323194:G982R	G	-	1	0	PLXNA4	131522819	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	7.461000	0.80834	2.615000	0.88500	0.555000	0.69702	GGA	PLXNA4	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000221866		0.567	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2		0	29	0	C	NM_181775		131872279	-1			no_errors	ENST00000321063	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	131872279	C	T	131872279	3	4	41	1	0	0	0	0	1	0	0	0	12161	661	23	1	2812	1	PLXNA4	7	131872279	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	17289865	131872279	27266384	104	10048											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147926793	147926793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagccatacaatattgaCgtagaccacaggaacatggc	15	6	10	10	2	0	3	0	1	0	2	0	5	0	4	2	2	3	1	2	2	5	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:147926793C>T	ENST00000361727.3	+	20	3819	c.3303C>T	c.(3301-3303)gaC>gaT	p.D1101D	CNTNAP2_ENST00000538075.1_Silent_p.D160D	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1101	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D1101D(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAATATTGACGTAGACCACA	0.433										HNSCC(39;0.1)																																							1	Substitution - coding silent(1)	lung(1)											121	110	114					7																	147926793		2203	4300	6503	SO:0001819	synonymous_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3303C>T	7.37:g.147926793C>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D1101	ENST00000361727.3	37	c.3303	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000174469		0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1		0	26	0	C			147926793	1			no_errors	ENST00000361727	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.016	T	T	147926793	C	T	147926793	2	4	41	1	0	0	0	0	0	0	0	1	3654	535	19	1		1	CNTNAP2	7	147926793	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	16054514	147926793	11211870	105	10049											
DLC1	10395	genome.wustl.edu	37	chr8	12957935	12957935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagagggcaggctgccGaaagagtcgtcattgcctgc	8	8	16	9	2	1	2	1	0	0	2	2	4	1	2	2	3	3	2	2	3	1	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:12957935G>T	ENST00000276297.4	-	9	2320	c.1911C>A	c.(1909-1911)ttC>ttA	p.F637L	DLC1_ENST00000520226.1_Missense_Mutation_p.F126L|DLC1_ENST00000512044.2_Missense_Mutation_p.F234L|DLC1_ENST00000358919.2_Missense_Mutation_p.F200L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	637					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.F637F(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCAGGCTGCCGAAAGAGTCGT	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)											80	79	79					8																	12957935		2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1911C>A	8.37:g.12957935G>T	ENSP00000276297:p.Phe637Leu		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.F637L	ENST00000276297.4	37	c.1911	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	7.952	0.745006	0.15710	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04551	3.84;3.6;3.6;3.61	4.42	2.58	0.30949	.	0.514561	0.21694	N	0.070532	T	0.03178	0.0093	N	0.20881	0.62	0.80722	D	1	B;B;B	0.19073	0.033;0.0;0.0	B;B;B	0.16289	0.015;0.002;0.002	T	0.48456	-0.9034	10	0.21540	T	0.41	.	6.6483	0.22947	0.1522:0.0:0.7025:0.1453	.	637;234;200	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	L	637;200;234;126	ENSP00000276297:F637L;ENSP00000351797:F200L;ENSP00000422595:F234L;ENSP00000428028:F126L	ENSP00000276297:F637L	F	-	3	2	DLC1	13002306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.547000	0.36190	0.757000	0.33036	0.655000	0.94253	TTC	DLC1	-	NULL	ENSG00000164741		0.597	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0	21	0	G	NM_182643, NM_006094		12957935	-1			no_errors	ENST00000276297	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.992	T	T	12957935	G	T	12957935	3	4	41	1	0	0	0	0	1	0	0	0	4564	1049	37	2	2715	2	DLC1	8	12957935	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09		12957935	133406087	106	10050											
HTRA4	203100	genome.wustl.edu	37	chr8	38840061	38840061	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgggtctgcaaatgctgTccctcactgtgccgtaagca	8	11	10	12	1	3	0	1	0	2	0	4	0	4	0	2	1	4	4	2	1	2	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:38840061T>A	ENST00000302495.4	+	7	1259	c.1159T>A	c.(1159-1161)Tcc>Acc	p.S387T		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	387	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCAAATGCTGTCCCTCACTGT	0.423																																																	0													184	178	180					8																	38840061		2203	4300	6503	SO:0001583	missense	0			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1159T>A	8.37:g.38840061T>A	ENSP00000305919:p.Ser387Thr		Q542Z4|Q6PF13	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.S387T	ENST00000302495.4	37	c.1159	CCDS6110.1	8	.	.	.	.	.	.	.	.	.	.	T	3.087	-0.187666	0.06299	.	.	ENSG00000169495	ENST00000302495	T	0.10288	2.89	5.09	3.3	0.37823	PDZ/DHR/GLGF (2);	0.287742	0.29551	N	0.011827	T	0.04861	0.0131	N	0.11845	0.185	0.19575	N	0.999967	B	0.09022	0.002	B	0.15052	0.012	T	0.43972	-0.9358	10	0.02654	T	1	-12.7947	9.4175	0.38530	0.0:0.8245:0.0:0.1755	.	387	P83105	HTRA4_HUMAN	T	387	ENSP00000305919:S387T	ENSP00000305919:S387T	S	+	1	0	HTRA4	38959218	0.624000	0.27102	0.999000	0.59377	0.961000	0.63080	0.802000	0.27069	0.662000	0.31006	-0.232000	0.12228	TCC	HTRA4	-	superfamily_PDZ,smart_PDZ	ENSG00000169495		0.423	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA4	HGNC	protein_coding	OTTHUMT00000377077.1		0	46	0	T	NM_153692		38840061	1			no_errors	ENST00000302495	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.997	A	A	38840061	T	A	38840061	3	1	41	1	0	0	0	0	1	0	0	0	7483	1667	58	5	1185	5	HTRA4	8	38840061	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	25882126	38840061	107523961	107	10051											
PRKDC	5591	genome.wustl.edu	37	chr8	48694817	48694817	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcaattaatcctaaccTgaaagggagaataaaaggtt	17	9	7	8	0	1	2	1	1	0	1	2	3	2	2	3	2	1	1	3	2	7	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:48694817T>G	ENST00000523565.1	-	80	11452		c.e80-2		PRKDC_ENST00000338368.3_Intron|PRKDC_ENST00000314191.2_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AATCCTAACCTGAAAGGGAGA	0.453								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													64	65	64					8																	48694817		1903	4131	6034	SO:0001630	splice_region_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.2057-2A>C	8.37:g.48694817T>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	-	e81-2	ENST00000523565.1	37	c.11394-2		8	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824901	0.71143	.	.	ENSG00000253729	ENST00000314191	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8944	0.70633	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48857370	1.000000	0.71417	0.960000	0.40013	0.852000	0.48524	6.937000	0.75898	1.984000	0.57885	0.533000	0.62120	.	PRKDC	-	-	ENSG00000253729		0.453	PRKDC-002	KNOWN	basic	processed_transcript	PRKDC	HGNC	protein_coding	OTTHUMT00000377896.1	-	0	44	0	T	NM_001081640	Intron	48694817	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	splice_site	22.22	56	16	SNP	1.000	G	G	48694817	T	G	48694817	5	3	41	1	0	0	0	0	0	0	1	0	12563	1594	55	4	1019	4	PRKDC	8	48694817	Splice_Site	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	9854756	48694817	97669205	108	10052											
WDR67	93594	genome.wustl.edu	37	chr8	124140521	124140521	+	Splice_Site	DEL	T	T	-																															aacaccaagttttcttacagTttttttttcaccatcggaat																								rs570441854		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:124140521delT	ENST00000287380.1	+	14	1975	c.1885delT	c.(1885-1887)ttt>tt	p.F631fs	TBC1D31_ENST00000378080.2_Splice_Site_p.F526fs|TBC1D31_ENST00000521676.1_Splice_Site_p.F508fs|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site_p.F631fs|TBC1D31_ENST00000522420.1_Splice_Site_p.F526fs|TBC1D31_ENST00000327098.5_Splice_Site_p.F631fs	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	631						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTCTTACAGTTTTTTTTTCA	0.323																																																	0													76	76	76					8																	124140521		2203	4300	6503	SO:0001630	splice_region_variant	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1T>-	8.37:g.124140521delT			B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.H632fs	ENST00000287380.1	37	c.1885	CCDS6338.1	8																																																																																			TBC1D31	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000156787		0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1		0	27	0	T	NM_145647	Frame_Shift_Del	124140521	1	tier1		no_errors	ENST00000287380	ensembl	human	known	74_37	frame_shift_del	5.45	52	3	DEL	1.000	-	-	124140521	T	-	124140521	8	5	41	1	0	1	0	1	0	0	1	0	17367	1739	60	0	1939	0	WDR67	8	124140521	Splice_Site	DEL	T	TCGA-JY-A938-01A-11D-A37C-09	75445704	124140521	22223501	109	10053											
PLEC	5339	genome.wustl.edu	37	chr8	144994276	144994276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccacggggacctcaaccGgggtcttttcaaaggtctca	9	8	10	14	2	4	0	3	0	2	0	5	1	4	1	3	5	1	0	3	5	2	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:144994276G>A	ENST00000322810.4	-	32	10293	c.10124C>T	c.(10123-10125)cCg>cTg	p.P3375L	PLEC_ENST00000357649.2_Missense_Mutation_p.P3242L|PLEC_ENST00000345136.3_Missense_Mutation_p.P3238L|PLEC_ENST00000356346.3_Missense_Mutation_p.P3224L|PLEC_ENST00000398774.2_Missense_Mutation_p.P3206L|PLEC_ENST00000527096.1_Missense_Mutation_p.P3261L|PLEC_ENST00000436759.2_Missense_Mutation_p.P3265L|PLEC_ENST00000354589.3_Missense_Mutation_p.P3238L|PLEC_ENST00000354958.2_Missense_Mutation_p.P3216L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3375	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTCAACCGGGGTCTTTTC	0.637																																																	0													37	40	39					8																	144994276		1933	4123	6056	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10124C>T	8.37:g.144994276G>A	ENSP00000323856:p.Pro3375Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P3375L	ENST00000322810.4	37	c.10124	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	0.509	-0.867280	0.02590	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74947	-0.85;-0.86;-0.89;-0.89;-0.87;-0.85;-0.85;-0.85;-0.85	4.17	2.2	0.27929	.	0.259050	0.29028	U	0.013371	T	0.49712	0.1573	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.15719	0.014;0.014;0.014;0.008;0.014;0.014;0.014;0.014	B;B;B;B;B;B;B;B	0.12156	0.006;0.007;0.007;0.003;0.007;0.006;0.006;0.006	T	0.40403	-0.9565	10	0.37606	T	0.19	.	9.7445	0.40437	0.0:0.1481:0.6878:0.1641	.	3265;3224;3216;3375;3206;3238;3242;3238	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	3238;3242;3238;3206;3375;3216;3224;3265;3261	ENSP00000344848:P3238L;ENSP00000350277:P3242L;ENSP00000346602:P3238L;ENSP00000381756:P3206L;ENSP00000323856:P3375L;ENSP00000347044:P3216L;ENSP00000348702:P3224L;ENSP00000388180:P3265L;ENSP00000434583:P3261L	ENSP00000323856:P3375L	P	-	2	0	PLEC	145066264	0.055000	0.20627	0.003000	0.11579	0.097000	0.18754	2.289000	0.43523	0.411000	0.25702	0.393000	0.25936	CCG	PLEC	-	NULL	ENSG00000178209		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0	17	0	G	NM_000445		144994276	-1			no_errors	ENST00000322810	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.014	A	A	144994276	G	A	144994276	3	1	41	1	0	0	0	0	1	0	0	0	12091	1116	39	1	3934	1	PLEC	8	144994276	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	20853755	144994276	1369746	110	10054											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145664111	145664113	+	In_Frame_Del	DEL	GTC	GTC	-																															tgcggggtcaggccatcggtGtcgtcctctggaacagagcc																								rs566416003		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	GTC	GTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:145664111_145664113delGTC	ENST00000409379.3	-	12	1515_1517	c.1486_1488delGAC	c.(1486-1488)gacdel	p.D496del	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	496	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCCATCGGTGTCGTCCTCTGGA	0.67																																																	0																																										SO:0001651	inframe_deletion	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1486_1488delGAC	8.37:g.145664114_145664116delGTC	ENSP00000386239:p.Asp496del		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.D496in_frame_del	ENST00000409379.3	37	c.1488_1486	CCDS34968.2	8																																																																																			TONSL	-	NULL	ENSG00000160949		0.67	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2		0	83	0	GTC	NM_013432		145664113	-1	tier1		no_errors	ENST00000409379	ensembl	human	known	74_37	in_frame_del	11.30	102	13	DEL	0.000:0.412:0.438	-	-	145664113	GTC	-	145664111	7	5	41	1	0	1	0	1	0	0	0	0	10421	1368	48	0	2708	0	NFKBIL2	8	145664111	In_Frame_Del	DEL	GTC	TCGA-JY-A938-01A-11D-A37C-09	669835	145664111	699911	111	10055											
GPT	2875	genome.wustl.edu	37	chr8	145730717	145730717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccactctactcggccaCgctggcagagctgggcgcag	7	6	13	15	3	1	1	0	0	1	1	2	1	1	1	2	3	3	5	2	3	2	2	rs376363949		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:145730717C>T	ENST00000528431.1	+	6	741	c.584C>T	c.(583-585)aCg>aTg	p.T195M	GPT_ENST00000394955.2_Missense_Mutation_p.T195M			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	195					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TACTCGGCCACGCTGGCAGAG	0.677																																																	0								C	MET/THR	0,4352		0,0,2176	28	21	23		584	2.9	0	8		23	1,8555		0,1,4277	no	missense	GPT	NM_005309.2	81	0,1,6453	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	195/497	145730717	1,12907	2176	4278	6454	SO:0001583	missense	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.584C>T	8.37:g.145730717C>T	ENSP00000433586:p.Thr195Met		B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.T195M	ENST00000528431.1	37	c.584	CCDS6430.1	8	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518829	0.44763	0.0	1.17E-4	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90444	-2.67;-2.67	4.75	2.94	0.34122	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.550749	0.19306	N	0.117506	D	0.93423	0.7902	M	0.76938	2.355	0.09310	N	1	D;D	0.64830	0.994;0.983	P;P	0.61874	0.895;0.819	D	0.86237	0.1641	10	0.87932	D	0	-8.2336	8.4767	0.33018	0.0:0.8068:0.0:0.1932	.	195;195	B4DPT5;P24298	.;ALAT1_HUMAN	M	195	ENSP00000433586:T195M;ENSP00000378408:T195M	ENSP00000378408:T195M	T	+	2	0	GPT	145701525	0.004000	0.15560	0.000000	0.03702	0.226000	0.24999	2.091000	0.41691	0.418000	0.25898	0.555000	0.69702	ACG	GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.677	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1	-	0	13	0	C			145730717	1	tier1	-	no_errors	ENST00000394955	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.011	T	T	145730717	C	T	145730717	3	4	41	1	0	0	0	0	1	0	0	0	6764	536	19	1	602	1	GPT	8	145730717	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	66606	145730717	633305	112	10056											
ARHGAP39	80728	genome.wustl.edu	37	chr8	145772875	145772875	+	Frame_Shift_Del	DEL	C	C	-																															ctcgcttcacgggggcgaggCtggtcccgcacgggggctgt																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:145772875delC	ENST00000276826.5	-	4	1796	c.1595delG	c.(1594-1596)agcfs	p.S532fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.S532fs|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.S532fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	532					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGGCGAGGCTGGTCCCGCA	0.751																																																	0													4	5	5					8																	145772875		1895	3868	5763	SO:0001589	frameshift_variant	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1595delG	8.37:g.145772875delC	ENSP00000276826:p.Ser532fs		B4E1I1	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.S532fs	ENST00000276826.5	37	c.1595		8																																																																																			ARHGAP39	-	NULL	ENSG00000147799		0.751	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1		0	28	0	C			145772875	-1	tier1		no_errors	ENST00000377307	ensembl	human	known	74_37	frame_shift_del	13.89	62	10	DEL	0.004	-	-	145772875	C	-	145772875	7	5	41	1	0	1	0	1	0	0	0	0	884	797	28	0	1781	0	ARHGAP39	8	145772875	Frame_Shift_Del	DEL	C	TCGA-JY-A938-01A-11D-A37C-09	42158	145772875	591147	113	10057											
PIGO	84720	genome.wustl.edu	37	chr9	35091374	35091374	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagggtgagggctgtgAccatagcagctgagtagaca	12	6	14	9	0	0	4	0	3	0	1	0	4	0	4	2	2	3	4	2	2	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:35091374A>T	ENST00000378617.3	-	7	2904	c.2510T>A	c.(2509-2511)gTc>gAc	p.V837D	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.V837D	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	837					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGGGCTGTGACCATAGCAGC	0.562																																																	0													100	87	91					9																	35091374		2203	4300	6503	SO:0001583	missense	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2510T>A	9.37:g.35091374A>T	ENSP00000367880:p.Val837Asp		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.V837D	ENST00000378617.3	37	c.2510	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687129	0.68157	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.59638	0.25;0.25	5.18	5.18	0.71444	.	0.144759	0.46145	D	0.000314	T	0.63965	0.2556	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.68070	-0.5506	10	0.72032	D	0.01	-13.69	15.1942	0.73071	1.0:0.0:0.0:0.0	.	837	Q8TEQ8	PIGO_HUMAN	D	837	ENSP00000367880:V837D;ENSP00000339382:V837D	ENSP00000339382:V837D	V	-	2	0	PIGO	35081374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.183000	0.89700	2.172000	0.68678	0.533000	0.62120	GTC	PIGO	-	NULL	ENSG00000165282		0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1		0	23	0	A	NM_032634		35091374	-1			no_errors	ENST00000341666	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	35091374	A	T	35091374	3	4	41	1	0	0	0	0	1	0	0	0	11933	275	10	5	779	5	PIGO	9	35091374	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09		35091374	106122057	114	10058											
NCBP1	4686	genome.wustl.edu	37	chr9	100416157	100416157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacactcctcattgaactGtgcaaacttcaacctggctc	12	10	5	14	0	2	1	2	1	0	0	4	1	3	1	2	1	5	2	2	1	4	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:100416157G>A	ENST00000375147.3	+	11	1393	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	379					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCATTGAACTGTGCAAACTTC	0.378																																					Ovarian(36;879 898 2893 44212 50307)												0													187	173	178					9																	100416157		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"nuclear cap binding protein subunit 1, 80kD"	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1137G>A	9.37:g.100416157G>A			B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.L379	ENST00000375147.3	37	c.1137	CCDS6728.1	9																																																																																			NCBP1	-	pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold	ENSG00000136937		0.378	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	-	0	45	0	G	NM_002486		100416157	1	tier1	-	no_errors	ENST00000375147	ensembl	human	known	74_37	silent	5.41	69	4	SNP	0.967	A	A	100416157	G	A	100416157	2	1	41	1	0	0	0	0	0	0	0	1	10250	1364	48	3		3	NCBP1	9	100416157	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	65324783	100416157	40797274	115	10059											
PTPN3	5774	genome.wustl.edu	37	chr9	112153417	112153417	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatccagattcctaacttaCgttcacgtaacttgcattaa	12	14	4	11	2	2	1	2	0	0	1	4	1	4	1	2	0	4	3	2	0	4	7			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:112153417C>T	ENST00000374541.2	-	21	2211		c.e21+1		PTPN3_ENST00000497739.1_Splice_Site|PTPN3_ENST00000412145.1_Splice_Site|PTPN3_ENST00000262539.3_Splice_Site|PTPN3_ENST00000446349.1_Splice_Site|PTPN3_ENST00000394827.3_Splice_Site	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3						negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTAACTTACGTTCACGTAA	0.458																																																	0													108	82	91					9																	112153417		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2106+1G>A	9.37:g.112153417C>T			A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	-	e20+1	ENST00000374541.2	37	c.2106+1	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328963	0.81690	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN3	111193238	1.000000	0.71417	0.997000	0.53966	0.812000	0.45895	7.335000	0.79234	2.739000	0.93911	0.655000	0.94253	.	PTPN3	-	-	ENSG00000070159		0.458	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4		0	33	0	C		Intron	112153417	-1			no_errors	ENST00000374541	ensembl	human	known	74_37	splice_site	5.00	57	3	SNP	1.000	T	T	112153417	C	T	112153417	5	4	41	1	0	0	0	0	0	0	1	0	12834	550	19	1	658	1	PTPN3	9	112153417	Splice_Site	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	11737260	112153417	29060014	116	10060											
SVEP1	79987	genome.wustl.edu	37	chr9	113168908	113168908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccactccaggagccattgGagaggcaccttcttgatgaa	10	9	11	11	0	1	3	0	2	1	1	2	5	2	4	4	3	2	1	4	3	1	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:113168908G>T	ENST00000401783.2	-	38	9308	c.8972C>A	c.(8971-8973)tCc>tAc	p.S2991Y	SVEP1_ENST00000297826.5_Missense_Mutation_p.S917Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2968Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2991	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGCCATTGGAGAGGCACCT	0.458																																																	0													54	56	55					9																	113168908		1888	4111	5999	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8972C>A	9.37:g.113168908G>T	ENSP00000384917:p.Ser2991Tyr		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S2991Y	ENST00000401783.2	37	c.8972	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819664	0.71028	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.66280	-0.2;-0.2;-0.2	5.57	5.57	0.84162	Complement control module (2);Sushi/SCR/CCP (3);	0.389753	0.28011	N	0.016946	T	0.78136	0.4236	M	0.79475	2.455	0.80722	D	1	D	0.57257	0.979	P	0.58331	0.837	T	0.79955	-0.1585	10	0.62326	D	0.03	.	19.5292	0.95222	0.0:0.0:1.0:0.0	.	2991	Q4LDE5	SVEP1_HUMAN	Y	2991;2968;917	ENSP00000384917:S2991Y;ENSP00000363593:S2968Y;ENSP00000297826:S917Y	ENSP00000297826:S917Y	S	-	2	0	SVEP1	112208729	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	6.459000	0.73513	2.625000	0.88918	0.591000	0.81541	TCC	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding			0	19	0	G			113168908	-1			no_errors	ENST00000401783	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.998	T	T	113168908	G	T	113168908	3	4	41	1	0	0	0	0	1	0	0	0	15467	1174	41	3	1787	3	SVEP1	9	113168908	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1015491	113168908	28044523	117	10061											
ZNF483	158399	genome.wustl.edu	37	chr9	114303978	114303978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taatagaaaggtgcctcaggGatgatgatcatggcttgatg	12	11	13	5	0	2	4	2	3	0	1	2	5	2	5	1	3	1	1	1	3	3	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:114303978G>A	ENST00000309235.5	+	6	921	c.763G>A	c.(763-765)Gat>Aat	p.D255N	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTGCCTCAGGGATGATGATCA	0.373																																																	0													61	64	63					9																	114303978		2203	4299	6502	SO:0001583	missense	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.763G>A	9.37:g.114303978G>A	ENSP00000311679:p.Asp255Asn		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D255N	ENST00000309235.5	37	c.763	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520818	0.44866	.	.	ENSG00000173258	ENST00000309235	T	0.04406	3.63	4.28	0.0438	0.14223	.	0.882245	0.09561	N	0.785582	T	0.03827	0.0108	L	0.38175	1.15	0.09310	N	1	B	0.30406	0.278	B	0.28305	0.088	T	0.46775	-0.9167	10	0.23302	T	0.38	-0.0353	4.7584	0.13095	0.1807:0.0:0.5301:0.2891	.	255	Q8TF39	ZN483_HUMAN	N	255	ENSP00000311679:D255N	ENSP00000311679:D255N	D	+	1	0	ZNF483	113343799	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-0.170000	0.09897	0.010000	0.14839	0.655000	0.94253	GAT	ZNF483	-	NULL	ENSG00000173258		0.373	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	-	0	20	0	G	XM_088567		114303978	1	tier1	-	no_errors	ENST00000309235	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.000	A	A	114303978	G	A	114303978	3	1	41	1	0	0	0	0	1	0	0	0	17984	1174	41	3	781	3	ZNF483	9	114303978	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1135070	114303978	26909453	118	10062											
DFNB31	25861	genome.wustl.edu	37	chr9	117166348	117166348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccgagaggtgggagagcGtagaggctgctggagagggg	8	6	22	5	2	0	4	0	0	0	4	1	7	1	4	1	6	2	3	1	6	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:117166348G>A	ENST00000362057.3	-	10	2414	c.2246C>T	c.(2245-2247)aCg>aTg	p.T749M	DFNB31_ENST00000265134.6_Missense_Mutation_p.T366M|DFNB31_ENST00000374059.3_Missense_Mutation_p.T398M	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632																																																	2	Substitution - Missense(2)	lung(2)											34	33	33					9																	117166348		2203	4300	6503	SO:0001583	missense	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2246C>T	9.37:g.117166348G>A	ENSP00000354623:p.Thr749Met		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T749M	ENST00000362057.3	37	c.2246	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492311	0.64074	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.09445	3.87;3.85;2.98	4.91	4.91	0.64330	.	0.141461	0.46758	D	0.000275	T	0.32734	0.0839	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.964;0.935;0.984	T	0.06127	-1.0844	10	0.87932	D	0	-10.836	16.2697	0.82608	0.0:0.0:1.0:0.0	.	748;749;398	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	M	366;398;749	ENSP00000265134:T366M;ENSP00000363172:T398M;ENSP00000354623:T749M	ENSP00000265134:T366M	T	-	2	0	DFNB31	116206169	1.000000	0.71417	0.999000	0.59377	0.453000	0.32348	8.355000	0.90083	2.286000	0.76751	0.313000	0.20887	ACG	DFNB31	-	NULL	ENSG00000095397		0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2		0	20	0	G	NM_015404		117166348	-1			no_errors	ENST00000362057	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A	A	117166348	G	A	117166348	3	1	41	1	0	0	0	0	1	0	0	0	4469	1145	40	1	489	1	DFNB31	9	117166348	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2862370	117166348	24047083	119	10063											
SPTAN1	6709	genome.wustl.edu	37	chr9	131388793	131388793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagaaatcaaagctttgCgcgaggcccacgacgccttc	11	7	11	12	4	1	1	1	0	0	1	2	4	1	2	2	2	2	1	2	2	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:131388793C>T	ENST00000372731.4	+	48	6498	c.6388C>T	c.(6388-6390)Cgc>Tgc	p.R2130C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2135C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2135C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2130					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAAAGCTTTGCGCGAGGCCCA	0.582																																					NSCLC(120;833 1744 2558 35612 37579)												0													75	79	77					9																	131388793		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6388C>T	9.37:g.131388793C>T	ENSP00000361816:p.Arg2130Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R2135C	ENST00000372731.4	37	c.6403	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641476	0.67244	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.50813	0.73;0.73;0.73	5.53	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.984;0.988;0.99	T	0.64041	-0.6500	10	0.52906	T	0.07	.	14.7723	0.69688	0.2622:0.7377:0.0:0.0	.	2110;2135;2130	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	C	2135;2130;2135;2110;379	ENSP00000350882:R2135C;ENSP00000361816:R2130C;ENSP00000361824:R2135C	ENSP00000350882:R2135C	R	+	1	0	SPTAN1	130428614	1.000000	0.71417	0.532000	0.27989	0.676000	0.39594	3.707000	0.54838	1.317000	0.45149	0.563000	0.77884	CGC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1		0	36	0	C	NM_003127		131388793	1			no_errors	ENST00000358161	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	131388793	C	T	131388793	3	4	41	1	0	0	0	0	1	0	0	0	15164	768	27	1	6593	1	SPTAN1	9	131388793	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	14222445	131388793	9824638	120	10064											
GTF3C4	9329	genome.wustl.edu	37	chr9	135553982	135553982	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaatatgagcacaataatCgaaaaatgagtggccttatt	16	10	10	5	1	0	2	0	2	0	0	1	4	0	3	1	2	1	1	1	2	7	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:135553982C>T	ENST00000372146.4	+	2	1540	c.976C>T	c.(976-978)Cga>Tga	p.R326*	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	326					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCACAATAATCGAAAAATGAG	0.418																																					Pancreas(142;417 1875 11086 31973 47667)												0													166	159	161					9																	135553982		2203	4300	6503	SO:0001587	stop_gained	0			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.976C>T	9.37:g.135553982C>T	ENSP00000361219:p.Arg326*		Q5VZJ7	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.R326*	ENST00000372146.4	37	c.976	CCDS6953.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.175262	0.99091	.	.	ENSG00000125484	ENST00000372146	.	.	.	5.82	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.8235	13.8944	0.63761	0.4086:0.5914:0.0:0.0	.	.	.	.	X	326	.	ENSP00000361219:R326X	R	+	1	2	GTF3C4	134543803	0.972000	0.33761	0.996000	0.52242	0.973000	0.67179	2.238000	0.43070	0.743000	0.32719	-0.314000	0.08810	CGA	GTF3C4	-	superfamily_WD40_repeat_dom	ENSG00000125484		0.418	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1		0	26	0	C			135553982	1			no_errors	ENST00000372146	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.999	T	T	135553982	C	T	135553982	4	4	41	1	0	0	0	0	0	1	0	0	6902	876	31	1	982	1	GTF3C4	9	135553982	Nonsense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	4165189	135553982	5659449	121	10065											
PCDH15	65217	genome.wustl.edu	37	chr10	55626442	55626442	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcccttcccatagtcgTcagttgcaataacttgaaac	11	12	6	12	1	2	1	2	1	0	0	5	1	4	1	2	0	3	2	2	0	4	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:55626442T>A	ENST00000320301.6	-	27	4071	c.3677A>T	c.(3676-3678)gAc>gTc	p.D1226V	PCDH15_ENST00000409834.1_Missense_Mutation_p.D837V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1226V|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1226V|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1233V|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1189V|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1233V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1231V|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1155V|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1204V|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1226V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1226	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCATAGTCGTCAGTTGCAAT	0.418										HNSCC(58;0.16)																																							0													127	109	115					10																	55626442		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3677A>T	10.37:g.55626442T>A	ENSP00000322604:p.Asp1226Val		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D1226V	ENST00000320301.6	37	c.3677	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562862	0.86335	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93585	0.7952	H	0.98005	4.125	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95829	0.8856	9	0.87932	D	0	.	15.204	0.73162	0.0:0.0:0.0:1.0	.	1204;1226;1226;1231;1155;1189;1226;1226;1233;1233;1226;1231;1226	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1233;1231;1226;1226;837;1233;1189;1226;1204;1226;1226;1231;1155	ENSP00000363076:D1233V;ENSP00000410304:D1231V;ENSP00000378826:D1226V;ENSP00000386693:D837V;ENSP00000378832:D1233V;ENSP00000378820:D1189V;ENSP00000354950:D1226V;ENSP00000378821:D1204V;ENSP00000322604:D1226V;ENSP00000378818:D1226V;ENSP00000412628:D1155V	ENSP00000322604:D1226V	D	-	2	0	PCDH15	55296448	1.000000	0.71417	0.974000	0.42286	0.952000	0.60782	8.040000	0.89188	2.078000	0.62432	0.460000	0.39030	GAC	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	42	0	T	NM_033056		55626442	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	A	A	55626442	T	A	55626442	3	1	41	1	0	0	0	0	1	0	0	0	11550	1667	58	5	3837	5	PCDH15	10	55626442	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09		55626442	79908305	122	10066											
MYPN	84665	genome.wustl.edu	37	chr10	69882003	69882003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctggggcaacctcccCggttcactcaaaagttacgg	10	8	9	14	2	3	0	2	0	1	0	4	0	4	0	4	4	3	3	4	4	5	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:69882003C>T	ENST00000358913.5	+	2	1296	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	MYPN_ENST00000540630.1_Missense_Mutation_p.R270W|MYPN_ENST00000373675.3_Missense_Mutation_p.R270W|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	270	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R270W(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCAACCTCCCCGGTTCACTCA	0.517																																																	1	Substitution - Missense(1)	lung(1)											57	62	60					10																	69882003		2203	4300	6503	SO:0001583	missense	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.808C>T	10.37:g.69882003C>T	ENSP00000351790:p.Arg270Trp		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R270W	ENST00000358913.5	37	c.808	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476828	0.63849	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.68624	-0.34;-0.34;-0.34	5.74	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264275	0.38605	N	0.001624	T	0.78444	0.4284	M	0.66560	2.04	0.39962	D	0.974673	D;D	0.89917	1.0;0.999	P;D	0.68765	0.878;0.96	T	0.79743	-0.1675	9	.	.	.	.	13.6836	0.62502	0.2807:0.7193:0.0:0.0	.	270;270	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	W	270	ENSP00000351790:R270W;ENSP00000441668:R270W;ENSP00000362779:R270W	.	R	+	1	2	MYPN	69552009	0.864000	0.29904	1.000000	0.80357	0.999000	0.98932	2.764000	0.47613	1.355000	0.45865	0.655000	0.94253	CGG	MYPN	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000138347		0.517	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1		0	20	0	C	NM_032578		69882003	1			no_errors	ENST00000358913	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.988	T	T	69882003	C	T	69882003	3	4	41	1	0	0	0	0	1	0	0	0	10136	643	23	1	810	1	MYPN	10	69882003	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	14255561	69882003	65652744	123	10067											
LRIT1	26103	genome.wustl.edu	37	chr10	85997164	85997164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgcaggtccagcagcCgcagcttgggggcgtccctg	4	7	16	14	2	0	0	0	0	0	0	2	0	2	0	4	4	4	4	4	4	0	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:85997164C>T	ENST00000372105.3	-	2	422	c.401G>A	c.(400-402)cGg>cAg	p.R134Q		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	134						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCAGCAGCCGCAGCTTGGG	0.731																																																	0													4	5	5					10																	85997164		1845	3593	5438	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.401G>A	10.37:g.85997164C>T	ENSP00000361177:p.Arg134Gln		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R134Q	ENST00000372105.3	37	c.401	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302461	0.81136	.	.	ENSG00000148602	ENST00000372105	T	0.55760	0.5	4.93	4.02	0.46733	.	0.122355	0.53938	N	0.000060	T	0.30947	0.0781	N	0.17345	0.48	0.53688	D	0.999978	P	0.40197	0.706	B	0.35413	0.202	T	0.06215	-1.0839	10	0.22706	T	0.39	.	9.7168	0.40278	0.0:0.9004:0.0:0.0995	.	134	Q9P2V4	LRIT1_HUMAN	Q	134	ENSP00000361177:R134Q	ENSP00000361177:R134Q	R	-	2	0	LRIT1	85987144	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.596000	0.54024	1.269000	0.44280	0.655000	0.94253	CGG	LRIT1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000148602		0.731	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0	9	0	C	NM_015613		85997164	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	T	T	85997164	C	T	85997164	3	4	41	1	0	0	0	0	1	0	0	0	8982	652	23	1	1482	1	LRIT1	10	85997164	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	16115161	85997164	49537583	124	10068											
DNMBP	23268	genome.wustl.edu	37	chr10	101716851	101716851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccactgccggctctgtgagGagaggcagagctcgcggaca	8	5	16	12	3	1	3	0	1	1	2	2	5	1	4	2	4	2	3	2	4	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:101716851G>A	ENST00000324109.4	-	4	471	c.380C>T	c.(379-381)tCc>tTc	p.S127F	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.S127F	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	127					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCTCTGTGAGGAGAGGCAGAG	0.617																																																	0													26	28	27					10																	101716851		2202	4300	6502	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.380C>T	10.37:g.101716851G>A	ENSP00000315659:p.Ser127Phe		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.S127F	ENST00000324109.4	37	c.380	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996055	0.93167	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.31247	1.5;1.5	5.46	5.46	0.80206	Src homology-3 domain (1);	0.000000	0.49916	D	0.000129	T	0.45135	0.1327	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.09640	-1.0665	10	0.23891	T	0.37	-20.0146	19.6821	0.95969	0.0:0.0:1.0:0.0	.	127	Q6XZF7	DNMBP_HUMAN	F	127	ENSP00000344914:S127F;ENSP00000315659:S127F	ENSP00000315659:S127F	S	-	2	0	DNMBP	101706841	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	9.464000	0.97655	2.719000	0.93026	0.555000	0.69702	TCC	DNMBP	-	superfamily_SH3_domain	ENSG00000107554		0.617	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	-	0	41	0	G	NM_015221		101716851	-1	tier1	-	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	15.46	82	15	SNP	0.998	A	A	101716851	G	A	101716851	3	1	41	1	0	0	0	0	1	0	0	0	4688	1174	41	3	4409	3	DNMBP	10	101716851	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	15719687	101716851	33817896	125	10069											
GPR26	2849	genome.wustl.edu	37	chr10	125426161	125426161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgggcgaccgcctgtgcCgcctggctgccttcctcgac	2	7	14	18	6	0	0	0	0	0	0	2	2	1	0	6	3	2	1	6	3	0	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:125426161C>T	ENST00000284674.1	+	1	291	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	80					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCGCCTGTGCCGCCTGGCTGC	0.701																																																	0													6	7	7					10																	125426161		2061	4072	6133	SO:0001583	missense	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.238C>T	10.37:g.125426161C>T	ENSP00000284674:p.Arg80Cys		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R80C	ENST00000284674.1	37	c.238	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314562	0.81358	.	.	ENSG00000154478	ENST00000284674	T	0.73363	-0.74	4.11	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.391569	0.26311	N	0.025110	T	0.77336	0.4115	L	0.50333	1.59	0.46437	D	0.999048	D	0.76494	0.999	P	0.56916	0.809	T	0.77520	-0.2557	10	0.56958	D	0.05	-28.2474	11.2891	0.49239	0.3309:0.6691:0.0:0.0	.	80	Q8NDV2	GPR26_HUMAN	C	80	ENSP00000284674:R80C	ENSP00000284674:R80C	R	+	1	0	GPR26	125416151	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.567000	0.67378	0.921000	0.36994	0.650000	0.86243	CGC	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000154478		0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1		0	10	0	C			125426161	1			no_errors	ENST00000284674	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	125426161	C	T	125426161	3	4	41	1	0	0	0	0	1	0	0	0	6710	652	23	1	240	1	GPR26	10	125426161	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	23709310	125426161	10108586	126	10070											
OR51F1	256892	genome.wustl.edu	37	chr11	4790702	4790702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatagcacgtgtaatcatcAgaagacccatttgaatgatt	14	12	7	8	1	2	4	2	2	0	2	2	4	2	4	1	0	1	2	1	0	5	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:4790702A>G	ENST00000380383.1	-	1	466	c.467T>C	c.(466-468)cTg>cCg	p.L156P	OR51F1_ENST00000343430.3_Missense_Mutation_p.L149P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTAATCATCAGAAGACCCAT	0.428																																																	0													98	100	99					11																	4790702		2201	4298	6499	SO:0001583	missense	0			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"GPCR / Class A : Olfactory receptors"	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.467T>C	11.37:g.4790702A>G	ENSP00000369744:p.Leu156Pro			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L156P	ENST00000380383.1	37	c.467		11	.	.	.	.	.	.	.	.	.	.	A	1.127	-0.653475	0.03480	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.41065	1.01;1.01	5.01	-0.115	0.13560	GPCR, rhodopsin-like superfamily (1);	1.135760	0.06745	N	0.778956	T	0.38957	0.1060	L	0.59912	1.85	0.09310	N	0.999997	B	0.12630	0.006	B	0.22152	0.038	T	0.44574	-0.9319	10	0.72032	D	0.01	.	5.7524	0.18154	0.5596:0.1335:0.3069:0.0	.	156	A6NGY5	O51F1_HUMAN	P	149;156	ENSP00000345163:L149P;ENSP00000369744:L156P	ENSP00000345163:L149P	L	-	2	0	OR51F1	4747278	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.439000	0.21575	0.058000	0.16222	-1.065000	0.02276	CTG	OR51F1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188069		0.428	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding			0	15	0	A	NM_001004752		4790702	-1			no_errors	ENST00000380383	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.000	G	G	4790702	A	G	4790702	3	3	41	1	0	0	0	0	1	0	0	0	11135	188	7	4	495	4	OR51F1	11	4790702	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09		4790702	130215814	127	10071											
OR5D18	219438	genome.wustl.edu	37	chr11	55588015	55588015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcaaggatacagtcaccGagatactggacaccaaagtc	15	7	9	10	1	2	1	2	0	0	1	3	4	2	3	2	2	2	0	2	2	4	2	rs376041728		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:55588015G>A	ENST00000333976.4	+	1	930	c.910G>A	c.(910-912)Gag>Aag	p.E304K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TACAGTCACCGAGATACTGGA	0.398																																																	0								G	LYS/GLU	0,4400		0,0,2200	59	64	62		910	2.6	0	11		62	1,8591		0,1,4295	no	missense	OR5D18	NM_001001952.1	56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	304/314	55588015	1,12991	2200	4296	6496	SO:0001583	missense	0			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.910G>A	11.37:g.55588015G>A	ENSP00000335025:p.Glu304Lys		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E304K	ENST00000333976.4	37	c.910	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	4.425	0.078629	0.08533	0.0	1.16E-4	ENSG00000186119	ENST00000333976	T	0.32988	1.43	4.97	2.6	0.31112	.	0.189615	0.25922	N	0.027433	T	0.04048	0.0113	N	0.00058	-2.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.02654	T	1	-3.3848	4.1936	0.10433	0.6857:0.0:0.1658:0.1485	.	304	Q8NGL1	OR5DI_HUMAN	K	304	ENSP00000335025:E304K	ENSP00000335025:E304K	E	+	1	0	OR5D18	55344591	0.000000	0.05858	0.003000	0.11579	0.471000	0.32888	0.921000	0.28718	0.360000	0.24265	-0.413000	0.06143	GAG	OR5D18	-	NULL	ENSG00000186119		0.398	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	-	0	24	0	G	NM_001001952		55588015	1	tier1	-	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.008	A	A	55588015	G	A	55588015	3	1	41	1	0	0	0	0	1	0	0	0	11196	1059	37	1	912	1	OR5D18	11	55588015	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	50797313	55588015	79418501	128	10072											
OR8I2	120586	genome.wustl.edu	37	chr11	55861280	55861280	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgggtgataagcagttTggcgttctgtgattccagca	7	14	13	7	1	2	2	0	2	2	0	3	2	3	2	1	2	2	4	1	2	1	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:55861280T>G	ENST00000302124.2	+	1	528	c.497T>G	c.(496-498)tTg>tGg	p.L166W		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATAAGCAGTTTGGCGTTCTGT	0.443																																																	0													161	151	154					11																	55861280		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"GPCR / Class A : Olfactory receptors"	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.497T>G	11.37:g.55861280T>G	ENSP00000303864:p.Leu166Trp		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L166W	ENST00000302124.2	37	c.497	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258992	0.39896	.	.	ENSG00000172154	ENST00000302124	T	0.00301	8.21	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33092	U	0.005299	T	0.01124	0.0037	H	0.96970	3.915	0.20703	N	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.13072	-1.0523	10	0.87932	D	0	-12.1653	12.9964	0.58648	0.0:0.0:0.0:1.0	.	166	Q8N0Y5	OR8I2_HUMAN	W	166	ENSP00000303864:L166W	ENSP00000303864:L166W	L	+	2	0	OR8I2	55617856	0.981000	0.34729	0.116000	0.21606	0.040000	0.13550	7.135000	0.77276	1.717000	0.51406	0.362000	0.22060	TTG	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172154		0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding			0	32	0	T	NM_001003750		55861280	1			no_errors	ENST00000302124	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.256	G	G	55861280	T	G	55861280	3	3	41	1	0	0	0	0	1	0	0	0	11279	1821	63	4	499	4	OR8I2	11	55861280	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	273265	55861280	79145236	129	10073											
CTNND1	1500	genome.wustl.edu	37	chr11	57564430	57564430	+	Frame_Shift_Del	DEL	A	A	-																															attatggcactgcccgtcggActgggacaccctctgaccct																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:57564430delA	ENST00000399050.4	+	6	1458	c.922delA	c.(922-924)actfs	p.T308fs	CTNND1_ENST00000532844.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000524630.1_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.T254fs	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	308					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGCCCGTCGGACTGGGACACC	0.527																																																	0													72	77	75					11																	57564430		2046	4196	6242	SO:0001589	frameshift_variant	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.922delA	11.37:g.57564430delA	ENSP00000382004:p.Thr308fs		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T308fs	ENST00000399050.4	37	c.922	CCDS44604.1	11																																																																																			CTNND1	-	NULL	ENSG00000198561		0.527	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1		0	30	0	A	NM_001331		57564430	1	tier1		no_errors	ENST00000399050	ensembl	human	known	74_37	frame_shift_del	13.04	60	9	DEL	0.989	-	-	57564430	A	-	57564430	7	5	41	1	0	1	0	1	0	0	0	0	4028	275	10	0	936	0	CTNND1	11	57564430	Frame_Shift_Del	DEL	A	TCGA-JY-A938-01A-11D-A37C-09	1703150	57564430	77442086	130	10074											
RTN3	10313	genome.wustl.edu	37	chr11	63520048	63520048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatgaatgctgccatggtGcacatcaacagggccctgaa	12	8	10	11	0	1	2	1	2	0	0	1	2	1	2	2	2	5	2	2	2	4	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:63520048G>A	ENST00000377819.5	+	5	2962	c.2808G>A	c.(2806-2808)gtG>gtA	p.V936V	RTN3_ENST00000341307.2_Silent_p.V140V|RTN3_ENST00000540798.1_Silent_p.V824V|RTN3_ENST00000356000.3_Silent_p.V159V|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Silent_p.V140V|RTN3_ENST00000339997.4_Silent_p.V917V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	936	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CTGCCATGGTGCACATCAACA	0.428																																																	0													183	175	178					11																	63520048		2201	4298	6499	SO:0001819	synonymous_variant	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2808G>A	11.37:g.63520048G>A			B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.V936	ENST00000377819.5	37	c.2808	CCDS58141.1	11																																																																																			RTN3	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000133318		0.428	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	-	0	34	0	G	NM_006054		63520048	1	tier1	-	no_errors	ENST00000377819	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.997	A	A	63520048	G	A	63520048	2	1	41	1	0	0	0	0	0	0	0	1	13772	1306	46	3		3	RTN3	11	63520048	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	5955618	63520048	71486468	131	10075											
FGF4	2249	genome.wustl.edu	37	chr11	69589540	69589540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccgcgtgcgcgccgcCgatgcggccgtcggggagcg	2	5	20	14	10	0	0	0	0	0	0	2	2	1	1	4	4	3	0	4	4	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:69589540C>T	ENST00000168712.1	-	1	631	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	FGF4_ENST00000538040.1_5'UTR|AP001888.1_ENST00000602104.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	105					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TGCGCGCCGCCGATGCGGCCG	0.761																																																	0													3	4	4					11																	69589540		1851	3722	5573	SO:0001583	missense	0			M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"Endogenous ligands"	3682	protein-coding gene	gene with protein product	"human stomach cancer, transforming factor from FGF-related oncogene", "kaposi sarcoma oncogene", "transforming protein KS3"	164980	"heparin secretory transforming protein 1"	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.313G>A	11.37:g.69589540C>T	ENSP00000168712:p.Gly105Ser		B7U994	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.G105S	ENST00000168712.1	37	c.313	CCDS8194.1	11	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919873	0.33908	.	.	ENSG00000075388	ENST00000168712	T	0.80566	-1.39	4.59	2.37	0.29283	.	0.936405	0.08836	N	0.886586	T	0.49847	0.1581	N	0.01188	-0.97	0.32244	N	0.572261	B;B	0.28713	0.128;0.22	B;B	0.28784	0.041;0.094	T	0.58370	-0.7648	9	.	.	.	.	3.7899	0.08716	0.2047:0.5529:0.0:0.2424	.	105;105	B7U994;P08620	.;FGF4_HUMAN	S	105	ENSP00000168712:G105S	.	G	-	1	0	FGF4	69298721	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.111000	0.41883	2.106000	0.64143	0.561000	0.74099	GGC	FGF4	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000075388		0.761	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF4	HGNC	protein_coding	OTTHUMT00000396834.2		0	8	0	C	NM_002007		69589540	-1			no_errors	ENST00000168712	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T	T	69589540	C	T	69589540	3	4	41	1	0	0	0	0	1	0	0	0	5876	652	23	1	319	1	FGF4	11	69589540	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	6069492	69589540	65416976	132	10076											
GRM5	2915	genome.wustl.edu	37	chr11	88242134	88242134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagagcggggcgccgaCgccggggctgggggccgcgg	4	1	23	13	8	0	1	0	0	0	1	0	3	0	1	3	7	2	2	3	7	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:88242134C>T	ENST00000305447.4	-	9	3414	c.3265G>A	c.(3265-3267)Gtc>Atc	p.V1089I	GRM5_ENST00000455756.2_Missense_Mutation_p.V1057I|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000418177.2_Missense_Mutation_p.V1089I|GRM5-AS1_ENST00000531994.1_RNA|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.V1057I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1089					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GGGGCGCCGACGCCGGGGCTG	0.637																																																	0													12	15	14					11																	88242134		2199	4292	6491	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3265G>A	11.37:g.88242134C>T	ENSP00000306138:p.Val1089Ile		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.V1089I	ENST00000305447.4	37	c.3265	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867778	0.32977	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.88509	-2.38;-2.39;-2.39;-2.38	4.72	4.72	0.59763	.	0.819451	0.10712	U	0.642768	D	0.82356	0.5019	L	0.29908	0.895	0.09310	N	1	P;P	0.39391	0.671;0.542	B;B	0.28916	0.096;0.066	T	0.72040	-0.4410	9	.	.	.	.	17.6681	0.88209	0.0:1.0:0.0:0.0	.	1057;1089	P41594-2;P41594	.;GRM5_HUMAN	I	1089;1057;1057;1089	ENSP00000402912:V1089I;ENSP00000405690:V1057I;ENSP00000305905:V1057I;ENSP00000306138:V1089I	.	V	-	1	0	GRM5	87881782	0.422000	0.25473	0.098000	0.21074	0.642000	0.38348	2.942000	0.49018	2.141000	0.66446	0.563000	0.77884	GTC	GRM5	-	NULL	ENSG00000168959		0.637	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	-	0	38	0	C	NM_000842		88242134	-1	tier1	-	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.229	T	T	88242134	C	T	88242134	3	4	41	1	0	0	0	0	1	0	0	0	6827	536	19	1	377	1	GRM5	11	88242134	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	18652594	88242134	46764382	133	10077											
DCUN1D5	84259	genome.wustl.edu	37	chr11	102937291	102937291	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaacttttctgtgcagTcacaccttaaataaaagaaa	15	14	5	7	0	2	1	1	0	1	1	2	1	2	1	1	0	2	2	1	0	6	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:102937291T>G	ENST00000260247.5	-	5	689	c.347A>C	c.(346-348)gAc>gCc	p.D116A	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.D31A	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	116	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TTCTGTGCAGTCACACCTTAA	0.294																																																	0													54	52	53					11																	102937291		2202	4298	6500	SO:0001583	missense	0				CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.347A>C	11.37:g.102937291T>G	ENSP00000260247:p.Asp116Ala		Q3ZTT2	Missense_Mutation	SNP	pfam_PONY_dom	p.D116A	ENST00000260247.5	37	c.347	CCDS8325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.308842|4.308842	0.81247|0.81247	.|.	.|.	ENSG00000137692|ENSG00000137692	ENST00000260247;ENST00000531543|ENST00000527260	T|.	0.21543|.	2.0|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Domain of unknown function DUF298 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76449|.	0.3989|.	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	P|.	0.54100|.	0.742|.	T|.	0.77563|.	-0.2541|.	10|.	0.66056|.	D|.	0.02|.	-14.7553|-14.7553	16.0325|16.0325	0.80588|0.80588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	116|.	Q9BTE7|.	DCNL5_HUMAN|.	A|C	116;31|87	ENSP00000260247:D116A|.	ENSP00000260247:D116A|.	D|X	-|-	2|3	0|0	DCUN1D5|DCUN1D5	102442501|102442501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.008000|8.008000	0.88588|0.88588	2.193000|2.193000	0.70182|0.70182	0.455000|0.455000	0.32223|0.32223	GAC|TGA	DCUN1D5	-	NULL	ENSG00000137692		0.294	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D5	HGNC	protein_coding	OTTHUMT00000386382.2	-	0	25	0	T	NM_032299		102937291	-1	tier1	-	no_errors	ENST00000260247	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	G	G	102937291	T	G	102937291	3	3	41	1	0	0	0	0	1	0	0	0	4326	1667	58	4	382	4	DCUN1D5	11	102937291	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	14695157	102937291	32069225	134	10078											
ATM	472	genome.wustl.edu	37	chr11	108213982	108213982	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagcgaagtggtgttcttGaatggtgcacaggaactgtc	9	11	13	8	1	2	1	1	1	1	0	3	3	2	2	0	3	3	2	0	3	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:108213982G>C	ENST00000452508.2	+	58	8491	c.8302G>C	c.(8302-8304)Gaa>Caa	p.E2768Q	ATM_ENST00000278616.4_Missense_Mutation_p.E2768Q|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2768	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGGTGTTCTTGAATGGTGCAC	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													170	156	161					11																	108213982		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8302G>C	11.37:g.108213982G>C	ENSP00000388058:p.Glu2768Gln		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2768Q	ENST00000452508.2	37	c.8302	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.131187	0.94473	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.85013	-1.93;-1.93	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	L	0.42686	1.345	0.80722	D	1	P	0.38729	0.644	P	0.44477	0.451	D	0.85552	0.1222	10	0.56958	D	0.05	.	19.8788	0.96888	0.0:0.0:1.0:0.0	.	2768	Q13315	ATM_HUMAN	Q	2768	ENSP00000278616:E2768Q;ENSP00000388058:E2768Q	ENSP00000278616:E2768Q	E	+	1	0	ATM	107719192	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.564000	0.82326	2.779000	0.95612	0.561000	0.74099	GAA	ATM	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	55	0	G	NM_000051		108213982	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	9.68	112	12	SNP	1.000	C	C	108213982	G	C	108213982	3	2	41	1	0	0	0	0	1	0	0	0	1110	1291	45	5	8524	5	ATM	11	108213982	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	5276691	108213982	26792534	135	10079											
DSCAML1	57453	genome.wustl.edu	37	chr11	117376192	117376192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgatgagctggcgctccCggctcacggtggcggctgcg	4	6	17	14	6	1	1	1	1	0	0	2	2	2	1	1	5	2	5	1	5	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:117376192C>T	ENST00000321322.6	-	9	2220	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R470Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	680	Ig-like C2-type 8.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGCGCTCCCGGCTCACGGT	0.602																																																	0													83	81	82					11																	117376192		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2219G>A	11.37:g.117376192C>T	ENSP00000315465:p.Arg740Gln		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R740Q	ENST00000321322.6	37	c.2219	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207184	0.58343	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66638	-0.22;-0.22	4.91	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55449	0.1921	L	0.28649	0.875	0.32292	N	0.566107	P	0.37663	0.604	B	0.38655	0.278	T	0.61520	-0.7046	9	0.30078	T	0.28	.	12.8718	0.57968	0.0:0.922:0.0:0.078	.	680	Q8TD84	DSCL1_HUMAN	Q	470;740;447	ENSP00000434335:R470Q;ENSP00000315465:R740Q	ENSP00000315465:R740Q	R	-	2	0	DSCAML1	116881402	0.931000	0.31567	0.982000	0.44146	0.985000	0.73830	2.598000	0.46223	1.285000	0.44548	0.491000	0.48974	CGG	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000177103		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	14	0	C	NM_020693		117376192	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.912	T	T	117376192	C	T	117376192	3	4	41	1	0	0	0	0	1	0	0	0	4783	652	23	1	4222	1	DSCAML1	11	117376192	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	9162210	117376192	17630324	136	10080											
ARCN1	372	genome.wustl.edu	37	chr11	118463457	118463457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggataaaaaacttttcactGcagagtctctaattggcctg	12	13	8	8	0	2	1	1	0	1	1	3	2	2	2	1	2	2	1	1	2	4	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:118463457G>A	ENST00000264028.4	+	7	1113	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	ARCN1_ENST00000359415.4_Missense_Mutation_p.A381T|RNU6-1157P_ENST00000384456.1_RNA|ARCN1_ENST00000392859.3_Missense_Mutation_p.A252T|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	340	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTTTTCACTGCAGAGTCTCT	0.438																																																	0													151	159	156					11																	118463457		2200	4295	6495	SO:0001583	missense	0			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"coatomer protein complex, subunit delta"	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1018G>A	11.37:g.118463457G>A	ENSP00000264028:p.Ala340Thr		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.A340T	ENST00000264028.4	37	c.1018	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519257	0.27211	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.18810	2.19;2.19;2.19	5.53	2.24	0.28232	Clathrin adaptor, mu subunit, C-terminal (3);	0.279401	0.40640	N	0.001042	T	0.13756	0.0333	L	0.38531	1.155	0.43480	D	0.995703	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.10613	-1.0622	10	0.33141	T	0.24	-20.3478	5.5382	0.17023	0.1515:0.0:0.4651:0.3834	.	252;381;340	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	T	252;381;340	ENSP00000376599:A252T;ENSP00000352385:A381T;ENSP00000264028:A340T	ENSP00000264028:A340T	A	+	1	0	ARCN1	117968667	0.131000	0.22433	1.000000	0.80357	0.995000	0.86356	0.423000	0.21313	0.245000	0.21373	0.655000	0.94253	GCA	ARCN1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000095139		0.438	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1		0	25	0	G			118463457	1			no_errors	ENST00000264028	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.971	A	A	118463457	G	A	118463457	3	1	41	1	0	0	0	0	1	0	0	0	842	1319	46	3	1044	3	ARCN1	11	118463457	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1087265	118463457	16543059	137	10081											
BCL9L	283149	genome.wustl.edu	37	chr11	118772250	118772250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcccatgggagtgccCgccaggccctcaccaccagc	7	5	10	19	1	1	0	1	0	0	0	2	1	2	1	7	2	3	0	7	2	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:118772250C>T	ENST00000334801.3	-	6	3166	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	734	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGAGTGCCCGCCAGGCCCT	0.667																																																	0													79	75	76					11																	118772250		2200	4295	6495	SO:0001819	synonymous_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2202G>A	11.37:g.118772250C>T			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.A734	ENST00000334801.3	37	c.2202	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.667	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0	23	0	C	NM_182557		118772250	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.002	T	T	118772250	C	T	118772250	2	4	41	1	0	0	0	0	0	0	0	1	1383	639	23	1		1	BCL9L	11	118772250	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	308793	118772250	16234266	138	10082											
SLC2A14	144195	genome.wustl.edu	37	chr12	7966969	7966969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcatccccatgacgccGtccttcccagatctatctgc	6	12	6	17	2	3	2	1	1	2	1	6	2	6	2	5	0	1	1	5	0	1	3	rs143806494		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:7966969G>A	ENST00000543909.1	-	16	2265	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D	SLC2A14_ENST00000340749.5_Silent_p.D479D|SLC2A14_ENST00000542546.1_Silent_p.D393D|SLC2A14_ENST00000542505.1_Silent_p.D143D|SLC2A14_ENST00000535295.1_Silent_p.D393D|SLC2A14_ENST00000396589.2_Silent_p.D502D|SLC2A14_ENST00000539924.1_Silent_p.D517D|SLC2A14_ENST00000431042.2_Silent_p.D479D			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	502					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCATGACGCCGTCCTTCCCAG	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		-128	0		0	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	227	148	175		1506	0	0	12	dbSNP_134	175	0,8598		0,0,4299	no	coding-synonymous	SLC2A14	NM_153449.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		502/521	7966969	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1506C>T	12.37:g.7966969G>A			B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.D502	ENST00000543909.1	37	c.1506	CCDS8585.1	12																																																																																			SLC2A14	-	NULL	ENSG00000173262		0.562	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	SLC2A14	HGNC	protein_coding	OTTHUMT00000399836.2	-	0	38	0	G	NM_153449		7966969	-1	tier1	rs143806494	no_errors	ENST00000396589	ensembl	human	known	74_37	silent	43.40	30	23	SNP	0.001	A	A	7966969	G	A	7966969	2	1	41	1	0	0	0	0	0	0	0	1	14588	1136	40	1		1	SLC2A14	12	7966969	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09		7966969	125884926	139	10083											
LRRK2	120892	genome.wustl.edu	37	chr12	40722188	40722188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttttggatcagtttacCgagcagcctatgaaggagaa	12	10	12	7	1	1	2	1	1	0	1	1	5	1	3	2	2	3	4	2	2	4	5	rs199762345		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:40722188C>G	ENST00000298910.7	+	39	5741	c.5683C>G	c.(5683-5685)Cga>Gga	p.R1895G		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R1895G(1)|p.R1902G(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCAGTTTACCGAGCAGCCTA	0.313																																																	2	Substitution - Missense(2)	lung(2)											68	71	70					12																	40722188		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5683C>G	12.37:g.40722188C>G	ENSP00000298910:p.Arg1895Gly		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R1895G	ENST00000298910.7	37	c.5683	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716765	0.68844	.	.	ENSG00000188906	ENST00000298910	D	0.94046	-3.34	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060026	0.64402	D	0.000005	D	0.96648	0.8906	M	0.87456	2.885	0.40535	D	0.980969	P;D	0.65815	0.938;0.995	P;D	0.68621	0.648;0.959	D	0.97273	0.9912	10	0.87932	D	0	.	13.5509	0.61732	0.1556:0.8444:0.0:0.0	.	1895;1895	Q17RV3;Q5S007	.;LRRK2_HUMAN	G	1895	ENSP00000298910:R1895G	ENSP00000298910:R1895G	R	+	1	2	LRRK2	39008455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.627000	0.37050	2.630000	0.89119	0.549000	0.68633	CGA	LRRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000188906		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	48	0	C	XM_058513		40722188	1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	G	G	40722188	C	G	40722188	3	3	41	1	0	0	0	0	1	0	0	0	9068	644	23	5	5837	5	LRRK2	12	40722188	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	32755219	40722188	93129707	140	10084											
KIAA0748	9840	genome.wustl.edu	37	chr12	55359872	55359872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtccccccagtcatgctGctggaagccaaactacagcc	9	8	9	15	0	1	0	1	0	0	0	2	1	2	1	5	2	6	2	5	2	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:55359872G>A	ENST00000449076.1	-	7	543	c.411C>T	c.(409-411)agC>agT	p.S137S	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_Intron|TESPA1_ENST00000316577.8_Silent_p.S137S	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	137					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S137S(1)									CAGTCATGCTGCTGGAAGCCA	0.493																																																	1	Substitution - coding silent(1)	large_intestine(1)											62	61	61					12																	55359872		1941	4139	6080	SO:0001819	synonymous_variant	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.411C>T	12.37:g.55359872G>A			B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	NULL	p.S137	ENST00000449076.1	37	c.411	CCDS44913.1	12																																																																																			TESPA1	-	NULL	ENSG00000135426		0.493	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	-	0	38	0	G	NM_001098815		55359872	-1	tier1	-	no_errors	ENST00000316577	ensembl	human	known	74_37	silent	7.27	50	4	SNP	1.000	A	A	55359872	G	A	55359872	2	1	41	1	0	0	0	0	0	0	0	1	8217	1310	46	3		3	KIAA0748	12	55359872	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	14637684	55359872	78492023	141	10085											
ANKRD52	283373	genome.wustl.edu	37	chr12	56638565	56638565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacattgtccgcgaaggcagCggcgtgaaggggggtcctgt	7	7	18	9	4	0	1	0	1	0	0	2	3	2	1	2	5	1	1	2	5	2	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:56638565C>T	ENST00000267116.7	-	24	2714	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	865										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCGAAGGCAGCGGCGTGAAGG	0.582																																																	0													60	61	61					12																	56638565		2103	4232	6335	SO:0001583	missense	0			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2593G>A	12.37:g.56638565C>T	ENSP00000267116:p.Ala865Thr		A6NE79|B1Q2K2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A865T	ENST00000267116.7	37	c.2593	CCDS44920.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.226030	0.95173	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.81163	-1.46	4.53	4.53	0.55603	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92745	0.6211	9	.	.	.	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	865	Q8NB46	ANR52_HUMAN	T	865	ENSP00000267116:A865T	.	A	-	1	0	ANKRD52	54924832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.527000	0.85204	0.655000	0.94253	GCT	ANKRD52	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000139645		0.582	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1		0	23	0	C	NM_173595		56638565	-1			no_errors	ENST00000267116	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	56638565	C	T	56638565	3	4	41	1	0	0	0	0	1	0	0	0	678	768	27	1	657	1	ANKRD52	12	56638565	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1278693	56638565	77213330	142	10086											
C12orf56	115749	genome.wustl.edu	37	chr12	64724796	64724796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccaaaaggcaaggccGttcttttcttccttgactta	8	15	6	12	1	3	1	0	1	3	0	5	1	4	1	3	2	0	2	3	2	4	7	rs370367135		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:64724796G>A	ENST00000543942.2	-	3	1058	c.432C>T	c.(430-432)aaC>aaT	p.N144N	C12orf56_ENST00000333722.5_Silent_p.N144N|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	144										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AGGCAAGGCCGTTCTTTTCTT	0.328																																																	0								A	,	0,3596		0,0,1798	49	43	45		432,432	-0.1	0.9	12		45	3,8075		0,3,4036	no	coding-synonymous,coding-synonymous	C12orf56	NM_001099676.2,NM_001170633.1	,	0,3,5834	AA,AG,GG		0.0371,0.0,0.0257	,	144/463,144/623	64724796	3,11671	1798	4039	5837	SO:0001819	synonymous_variant	0				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.432C>T	12.37:g.64724796G>A				Silent	SNP	NULL	p.N144	ENST00000543942.2	37	c.432		12																																																																																			C12orf56	-	NULL	ENSG00000185306		0.328	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	-	0	32	0	G	NM_001099676		64724796	-1	tier1	-	no_errors	ENST00000333722	ensembl	human	known	74_37	silent	36.92	39	24	SNP	0.948	A	A	64724796	G	A	64724796	2	1	41	1	0	0	0	0	0	0	0	1	1705	1136	40	1		1	C12orf56	12	64724796	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	8086231	64724796	69127099	143	10087											
FRS2	10818	genome.wustl.edu	37	chr12	69967832	69967832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcaagaagagcggaaaaaCcgcacaagtgtgcatgttcc	14	6	12	9	2	0	2	0	0	0	2	1	3	1	3	2	1	4	4	2	1	5	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:69967832C>A	ENST00000550389.1	+	7	870	c.624C>A	c.(622-624)aaC>aaA	p.N208K	FRS2_ENST00000299293.2_Missense_Mutation_p.N208K|FRS2_ENST00000397997.2_Missense_Mutation_p.N208K|FRS2_ENST00000549921.1_Missense_Mutation_p.N208K	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	208					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGCGGAAAAACCGCACAAGTG	0.408																																																	0													87	83	85					12																	69967832		1900	4116	6016	SO:0001583	missense	0			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.624C>A	12.37:g.69967832C>A	ENSP00000447241:p.Asn208Lys		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.N208K	ENST00000550389.1	37	c.624	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	C	2.749	-0.260381	0.05791	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.9	-1.94	0.07571	.	0.603599	0.20304	N	0.094966	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.27088	-1.0084	9	.	.	.	-3.7307	2.1923	0.03902	0.1029:0.3034:0.2018:0.392	.	208	Q8WU20	FRS2_HUMAN	K	208	ENSP00000299293:N208K;ENSP00000450048:N208K;ENSP00000447241:N208K;ENSP00000381083:N208K	.	N	+	3	2	FRS2	68254099	0.006000	0.16342	0.262000	0.24481	0.644000	0.38419	-0.316000	0.08071	-0.725000	0.04901	-0.755000	0.03482	AAC	FRS2	-	NULL	ENSG00000166225		0.408	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	HGNC	protein_coding	OTTHUMT00000403760.1	-	0	40	0	C	NM_006654		69967832	1	tier1	-	no_errors	ENST00000299293	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.012	A	A	69967832	C	A	69967832	3	1	41	1	0	0	0	0	1	0	0	0	6085	506	18	3	642	3	FRS2	12	69967832	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	5243036	69967832	63884063	144	10088											
MGAT4C	25834	genome.wustl.edu	37	chr12	86373909	86373909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacattttgcttggaacGaaatttgactctatcttctg	10	17	6	8	1	4	1	0	1	4	0	4	3	4	2	0	1	3	1	0	1	4	7			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:86373909G>T	ENST00000604798.1	-	8	1799	c.595C>A	c.(595-597)Cgt>Agt	p.R199S	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199S			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	199					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338																																																	0													101	103	102					12																	86373909		2203	4300	6503	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.595C>A	12.37:g.86373909G>T	ENSP00000474896:p.Arg199Ser		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.R228S	ENST00000604798.1	37	c.682	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912125	0.33721	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.49	5.49	0.81192	.	0.122041	0.53938	D	0.000057	T	0.77150	0.4088	M	0.90483	3.12	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81342	-0.0976	10	0.72032	D	0.01	-22.3009	14.5768	0.68255	0.0:0.0:0.8539:0.1461	.	228;199	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	S	199;228;199;199;199;199;199	ENSP00000331664:R199S;ENSP00000376900:R228S;ENSP00000449022:R199S;ENSP00000446647:R199S;ENSP00000447253:R199S;ENSP00000449172:R199S	ENSP00000331664:R199S	R	-	1	0	MGAT4C	84898040	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.550000	0.60733	2.722000	0.93159	0.655000	0.94253	CGT	MGAT4C	-	pfam_Glyco_transf_54	ENSG00000182050		0.338	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2		0	33	0	G	NM_013244		86373909	-1			no_errors	ENST00000393205	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	86373909	G	T	86373909	3	4	41	1	0	0	0	0	1	0	0	0	9585	1058	37	2	845	2	MGAT4C	12	86373909	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	16406077	86373909	47477986	145	10089											
MYBPC1	4604	genome.wustl.edu	37	chr12	102061599	102061599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgcaaagatctttgtgCgtgtgaaggctgttaatgca	11	12	12	6	1	1	3	0	1	1	2	1	3	1	3	0	1	3	4	0	1	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:102061599C>T	ENST00000550270.1	+	22	2425	c.2425C>T	c.(2425-2427)Cgt>Tgt	p.R809C	MYBPC1_ENST00000536007.1_Missense_Mutation_p.R772C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R809C|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R777C|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R822C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R816C|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R692C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R779C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R791C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R809C|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R809C|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R778C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R816C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R765C|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R791C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	809	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R816C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATCTTTGTGCGTGTGAAGGC	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											107	91	96					12																	102061599		2203	4300	6503	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2425C>T	12.37:g.102061599C>T	ENSP00000449702:p.Arg809Cys		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R816C	ENST00000550270.1	37	c.2446	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412318	0.62511	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.73	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000172	T	0.76637	0.4015	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.932;0.999;1.0;0.999;1.0;0.978;0.999	T	0.79783	-0.1658	10	0.87932	D	0	.	13.4713	0.61283	0.266:0.734:0.0:0.0	.	772;779;809;791;778;765;791;809;816;816	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	C	765;809;809;809;778;777;816;822;791;791;772;779;816;692;809	ENSP00000448175:R765C;ENSP00000400908:R809C;ENSP00000388989:R809C;ENSP00000353822:R809C;ENSP00000376665:R778C;ENSP00000447362:R777C;ENSP00000354845:R816C;ENSP00000447660:R822C;ENSP00000447900:R791C;ENSP00000440034:R791C;ENSP00000446128:R772C;ENSP00000442847:R779C;ENSP00000354849:R816C;ENSP00000447116:R692C;ENSP00000449702:R809C	ENSP00000353822:R809C	R	+	1	0	MYBPC1	100585730	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	3.046000	0.49846	2.699000	0.92147	0.650000	0.86243	CGT	MYBPC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196091		0.468	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1		0	32	0	C			102061599	1			no_errors	ENST00000361466	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.997	T	T	102061599	C	T	102061599	3	4	41	1	0	0	0	0	1	0	0	0	10049	768	27	1	2594	1	MYBPC1	12	102061599	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	15687690	102061599	31790296	146	10090											
P2RX7	5027	genome.wustl.edu	37	chr12	121598715	121598715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatctgcagtatcccacccGcaggacgctctgttcctctg	6	11	8	16	2	3	0	0	0	3	0	5	1	5	1	3	1	1	5	3	1	2	3	rs201668926		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:121598715G>A	ENST00000546057.1	+	4	517	c.374G>A	c.(373-375)cGc>cAc	p.R125H	P2RX7_ENST00000535250.1_Missense_Mutation_p.R35H|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000377162.2_Missense_Mutation_p.R125H|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	125					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TATCCCACCCGCAGGACGCTC	0.512																																																	0													228	214	219					12																	121598715		2203	4300	6503	SO:0001583	missense	0			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.374G>A	12.37:g.121598715G>A	ENSP00000442349:p.Arg125His		A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R125H	ENST00000546057.1	37	c.374	CCDS9213.1	12	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682308	0.68042	.	.	ENSG00000089041	ENST00000546057;ENST00000377162;ENST00000535250	T;T;T	0.04551	3.6;3.6;3.6	5.93	1.68	0.24146	.	0.558618	0.17599	N	0.168469	T	0.06371	0.0164	L	0.35593	1.075	0.80722	D	1	D;D	0.57571	0.98;0.972	P;P	0.48677	0.553;0.586	T	0.41734	-0.9492	10	0.46703	T	0.11	.	10.4192	0.44340	0.077:0.5604:0.3626:0.0	.	35;125	F5H7E8;Q99572	.;P2RX7_HUMAN	H	125;125;35	ENSP00000442349:R125H;ENSP00000366367:R125H;ENSP00000442572:R35H	ENSP00000261826:R125H	R	+	2	0	P2RX7	120083098	0.000000	0.05858	0.992000	0.48379	0.981000	0.71138	-0.875000	0.04205	0.358000	0.24211	0.561000	0.74099	CGC	P2RX7	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000089041		0.512	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1		0	45	0	G	NM_002562		121598715	1			no_errors	ENST00000546057	ensembl	human	known	74_37	missense	5.33	70	4	SNP	0.974	A	A	121598715	G	A	121598715	3	1	41	1	0	0	0	0	1	0	0	0	11384	1087	38	1	388	1	P2RX7	12	121598715	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	19537116	121598715	12253180	147	10091											
ABCB9	23457	genome.wustl.edu	37	chr12	123424682	123424682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtgcaagtacttgtggtcGtaggcgctgatgggcttgcc	5	11	16	9	3	0	1	0	1	0	0	1	1	0	1	1	4	3	5	1	4	3	4	rs369328306		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:123424682G>A	ENST00000542678.1	-	9	4557	c.1719C>T	c.(1717-1719)taC>taT	p.Y573Y	ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000442833.2_Silent_p.Y573Y|ABCB9_ENST00000344275.7_Silent_p.Y573Y|ABCB9_ENST00000280560.8_Silent_p.Y573Y|ABCB9_ENST00000540285.1_Silent_p.Y510Y|ABCB9_ENST00000442028.2_Silent_p.Y573Y|ABCB9_ENST00000392439.3_Silent_p.Y573Y|ABCB9_ENST00000346530.5_Silent_p.Y530Y			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	573	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ACTTGTGGTCGTAGGCGCTGA	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		17536	0		0	False		,,,				2504	0				Ovarian(49;786 1333 9175 38236)												0								G	,,	1,4405		0,1,2202	33	30	31		1590,1719,1719	-3.4	1	12		31	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCB9	NM_019624.3,NM_019625.3,NM_203444.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	530/724,573/767,573/767	123424682	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1719C>T	12.37:g.123424682G>A			B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Y573	ENST00000542678.1	37	c.1719	CCDS9241.1	12																																																																																			ABCB9	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000150967		0.602	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB9	HGNC	protein_coding	OTTHUMT00000400956.1	-	0	24	0	G	NM_019624		123424682	-1	tier1	-	no_errors	ENST00000442028	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.965	A	A	123424682	G	A	123424682	2	1	41	1	0	0	0	0	0	0	0	1	48	1140	40	1		1	ABCB9	12	123424682	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1825967	123424682	10427213	148	10092											
NBEA	26960	genome.wustl.edu	37	chr13	35751188	35751188	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattaaggatccggatagacTtcttcaggatgttgatatca	12	14	9	6	1	3	2	2	1	1	1	4	5	4	5	1	3	0	1	1	3	4	7			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:35751188T>C	ENST00000400445.3	+	28	5144	c.4610T>C	c.(4609-4611)cTt>cCt	p.L1537P	NBEA_ENST00000540320.1_Missense_Mutation_p.L1537P|NBEA_ENST00000310336.4_Missense_Mutation_p.L1537P|NBEA_ENST00000379939.2_Missense_Mutation_p.L1534P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1537					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCGGATAGACTTCTTCAGGAT	0.358																																																	0													142	124	129					13																	35751188		1841	4093	5934	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4610T>C	13.37:g.35751188T>C	ENSP00000383295:p.Leu1537Pro		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.L1537P	ENST00000400445.3	37	c.4610	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463550	0.63513	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76071	0.896;0.987	D	0.85784	0.1363	10	0.62326	D	0.03	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1537;1534	Q8NFP9;Q5T321	NBEA_HUMAN;.	P	1537;1537;1534;1537;196	ENSP00000440951:L1537P;ENSP00000383295:L1537P;ENSP00000369271:L1534P;ENSP00000308534:L1537P	ENSP00000308534:L1537P	L	+	2	0	NBEA	34649188	1.000000	0.71417	0.963000	0.40424	0.161000	0.22273	7.948000	0.87774	2.371000	0.80710	0.533000	0.62120	CTT	NBEA	-	NULL	ENSG00000172915		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	57	0	T	NM_015678		35751188	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	19.39	77	19	SNP	1.000	C	C	35751188	T	C	35751188	3	2	41	1	0	0	0	0	1	0	0	0	10225	1609	56	4	4720	4	NBEA	13	35751188	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09		35751188	79418690	149	10093											
PCDH17	27253	genome.wustl.edu	37	chr13	58208511	58208511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatctggtgagcactgtgCgcgccctagacagcgacttc	7	9	12	13	3	1	2	0	1	1	1	2	3	1	2	1	1	3	2	1	1	2	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:58208511C>T	ENST00000377918.3	+	1	1857	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCACTGTGCGCGCCCTAGA	0.657																																					Melanoma(72;952 1291 1619 12849 33676)												0													34	33	34					13																	58208511		2202	4296	6498	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1831C>T	13.37:g.58208511C>T	ENSP00000367151:p.Arg611Cys		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R611C	ENST00000377918.3	37	c.1831	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524549	0.44969	.	.	ENSG00000118946	ENST00000377918	T	0.53423	0.62	5.36	4.46	0.54185	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74023	0.947;0.982	T	0.70124	-0.4958	9	.	.	.	.	12.7714	0.57423	0.2873:0.7127:0.0:0.0	.	611;611	O14917-2;O14917	.;PCD17_HUMAN	C	611	ENSP00000367151:R611C	.	R	+	1	0	PCDH17	57106512	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.027000	0.57239	2.500000	0.84329	0.561000	0.74099	CGC	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.657	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1		0	8	0	C	NM_001040429		58208511	1			no_errors	ENST00000377918	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	58208511	C	T	58208511	3	4	41	1	0	0	0	0	1	0	0	0	11551	768	27	1	1833	1	PCDH17	13	58208511	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	22457323	58208511	56961367	150	10094											
MYCBP2	23077	genome.wustl.edu	37	chr13	77738652	77738652	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccccaccaagattggctaAttctttttccaattggatga	12	13	6	10	0	1	2	0	1	1	1	2	3	2	3	4	2	1	1	4	2	4	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:77738652A>T	ENST00000544440.2	-	43	6387	c.6370T>A	c.(6370-6372)Tta>Ata	p.L2124I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L2124I|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L2162I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGATTGGCTAATTCTTTTTCC	0.373																																																	0													94	88	90					13																	77738652		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6370T>A	13.37:g.77738652A>T	ENSP00000444596:p.Leu2124Ile			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L2162I	ENST00000544440.2	37	c.6484		13	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306710	0.60305	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.57436	0.41;0.4;0.41	5.62	0.264	0.15607	.	0.000000	0.64402	D	0.000002	T	0.63260	0.2496	M	0.69358	2.11	0.39859	D	0.973343	P	0.52842	0.956	P	0.62184	0.899	T	0.62909	-0.6754	10	0.49607	T	0.09	.	10.8322	0.46667	0.565:0.0:0.435:0.0	.	2124	O75592	MYCB2_HUMAN	I	2124;2162;2124	ENSP00000349892:L2124I;ENSP00000384288:L2162I;ENSP00000444596:L2124I	ENSP00000349892:L2124I	L	-	1	2	MYCBP2	76636653	0.999000	0.42202	0.997000	0.53966	0.984000	0.73092	0.671000	0.25172	-0.090000	0.12462	-0.263000	0.10527	TTA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1		0	59	0	A	NM_015057		77738652	-1			no_errors	ENST00000407578	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.997	T	T	77738652	A	T	77738652	3	4	41	1	0	0	0	0	1	0	0	0	10056	98	4	5	7716	5	MYCBP2	13	77738652	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	19530141	77738652	37431226	151	10095											
NALCN	259232	genome.wustl.edu	37	chr13	101714386	101714386	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttggccacctcctcctcTatggtgtactccagctgctc	4	13	8	16	0	1	0	0	0	1	0	5	0	4	0	5	2	4	4	5	2	2	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:101714386T>A	ENST00000251127.6	-	41	4770	c.4689A>T	c.(4687-4689)atA>atT	p.I1563I	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1563					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTCCTCCTCTATGGTGTACT	0.582																																																	0													125	89	101					13																	101714386		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4689A>T	13.37:g.101714386T>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.I1563	ENST00000251127.6	37	c.4689	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.582	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	34	0	T	NM_052867		101714386	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.853	A	A	101714386	T	A	101714386	2	1	41	1	0	0	0	0	0	0	0	1	10186	1512	53	5		5	NALCN	13	101714386	Silent	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	23975734	101714386	13455492	152	10096											
TPP2	7174	genome.wustl.edu	37	chr13	103326806	103326806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagaaacattttgggAaactactaaatggactgatc	14	11	9	7	0	1	2	0	1	1	1	2	4	1	4	0	3	3	1	0	3	5	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:103326806A>G	ENST00000376065.4	+	27	3542	c.3506A>G	c.(3505-3507)gAa>gGa	p.E1169G	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.E1182G	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1169					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACATTTTGGGAAACTACTAAA	0.463																																																	0													88	86	87					13																	103326806		2203	4300	6503	SO:0001583	missense	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3506A>G	13.37:g.103326806A>G	ENSP00000365233:p.Glu1169Gly		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.E1169G	ENST00000376065.4	37	c.3506	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	A	28.4	4.918221	0.92249	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79356	-0.1837	9	0.72032	D	0.01	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	1169	P29144	TPP2_HUMAN	G	1169;1182	.	ENSP00000365220:E1182G	E	+	2	0	TPP2	102124807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.295000	0.89937	2.279000	0.76181	0.533000	0.62120	GAA	TPP2	-	NULL	ENSG00000134900		0.463	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	-	0	59	0	A			103326806	1	tier1	-	no_errors	ENST00000376065	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	G	G	103326806	A	G	103326806	3	3	41	1	0	0	0	0	1	0	0	0	16460	246	9	4	3612	4	TPP2	13	103326806	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	1612420	103326806	11843072	153	10097											
CUL4A	8451	genome.wustl.edu	37	chr13	113898809	113898809	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgttggacaagatcatgatCctgttcaggtttatccacgg	10	12	10	9	2	2	2	2	1	0	1	4	3	4	3	2	3	0	3	2	3	2	4	rs376855542		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:113898809C>A	ENST00000375440.4	+	12	1398	c.1314C>A	c.(1312-1314)atC>atA	p.I438I	CUL4A_ENST00000375441.3_Silent_p.I338I|CUL4A_ENST00000326335.4_Silent_p.I338I|CUL4A_ENST00000451881.1_Silent_p.I338I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	438					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGATCATGATCCTGTTCAGGT	0.483																																																	0													80	65	70					13																	113898809		2203	4300	6503	SO:0001819	synonymous_variant	0			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1314C>A	13.37:g.113898809C>A			A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.I438	ENST00000375440.4	37	c.1314	CCDS41908.1	13																																																																																			CUL4A	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000139842		0.483	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	-	0	33	0	C	NM_003589		113898809	1	tier1	-	no_errors	ENST00000375440	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.951	A	A	113898809	C	A	113898809	2	1	41	1	0	0	0	0	0	0	0	1	4066	845	30	3		3	CUL4A	13	113898809	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	10572003	113898809	1271069	154	10098											
SEC23A	10484	genome.wustl.edu	37	chr14	39555000	39555001	+	Frame_Shift_Ins	INS	-	-	T																															agctatggaaagtgccacccINScagaggaacgcaaaggtctc																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:39555000_39555001insT	ENST00000307712.6	-	7	1310_1311	c.793_794insA	c.(793-795)gggfs	p.G265fs	SEC23A_ENST00000545328.2_Frame_Shift_Ins_p.G236fs|SEC23A_ENST00000536508.1_Frame_Shift_Ins_p.G139fs|SEC23A_ENST00000537403.1_Frame_Shift_Ins_p.G63fs	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	265					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGTGCCACCCCAGAGGAACGC	0.485																																																	0																																										SO:0001589	frameshift_variant	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.793_794insA	14.37:g.39555000_39555001insT	ENSP00000306881:p.Gly265fs		B2R5P4|B3KXI2|Q8NE16	Frame_Shift_Ins	INS	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.G265fs	ENST00000307712.6	37	c.794_793	CCDS9668.1	14																																																																																			SEC23A	-	pfam_Sec23/24_trunk_dom	ENSG00000100934		0.485	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2		0	68	0	-			39555001	-1	tier1		no_errors	ENST00000307712	ensembl	human	known	74_37	frame_shift_ins	10.26	70	8	INS	1.000:1.000	T	T	39555001	-	T	39555000	7	5	41	1	0	1	1	0	0	0	0	0	14036	623	22	0	1559	0	SEC23A	14	39555000	Frame_Shift_Ins	INS	-	TCGA-JY-A938-01A-11D-A37C-09		39555000	67794540	155	10099											
FRMD6	122786	genome.wustl.edu	37	chr14	52188702	52188702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgatgacccccgggatctgGagcagatgaatgaagagtct	11	9	13	8	1	2	6	0	4	2	2	2	8	2	8	2	2	1	1	2	2	2	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:52188702G>A	ENST00000344768.5	+	12	1592	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	FRMD6_ENST00000553556.1_Missense_Mutation_p.E108K|FRMD6_ENST00000356218.4_Missense_Mutation_p.E458K|RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000554167.1_Missense_Mutation_p.E389K|FRMD6_ENST00000395718.2_Missense_Mutation_p.E458K			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	466					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCGGGATCTGGAGCAGATGAA	0.453																																																	0													124	119	121					14																	52188702		2203	4300	6503	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1396G>A	14.37:g.52188702G>A	ENSP00000343899:p.Glu466Lys		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.E466K	ENST00000344768.5	37	c.1396	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.183140	0.94885	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555703;ENST00000553556	T;T;T;T	0.77620	-1.11;-1.11;-0.89;-0.7	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	L	0.36672	1.1	0.80722	D	1	D;P;P	0.56035	0.974;0.956;0.944	P;B;P	0.50659	0.647;0.444;0.647	T	0.72640	-0.4232	10	0.24483	T	0.36	.	17.8984	0.88896	0.0:0.0:1.0:0.0	.	389;466;458	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	K	458;458;466;389;106;108	ENSP00000348550:E458K;ENSP00000379068:E458K;ENSP00000343899:E466K;ENSP00000451977:E389K	ENSP00000343899:E466K	E	+	1	0	FRMD6	51258452	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.140000	0.94607	2.835000	0.97688	0.650000	0.86243	GAG	FRMD6	-	NULL	ENSG00000139926		0.453	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	-	0	29	0	G	NM_152330		52188702	1	tier1	-	no_errors	ENST00000344768	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	A	A	52188702	G	A	52188702	3	1	41	1	0	0	0	0	1	0	0	0	6078	1175	41	3	1414	3	FRMD6	14	52188702	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	12633702	52188702	55160838	156	10100											
GALNTL1	57452	genome.wustl.edu	37	chr14	69787458	69787458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctcgaaaggctttgatGagaaggcctacctgtcggcc	8	9	11	13	2	0	2	0	2	0	1	3	4	1	2	4	3	1	1	4	3	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:69787458G>A	ENST00000337827.4	+	2	535	c.208G>A	c.(208-210)Gag>Aag	p.E70K	GALNT16_ENST00000448469.3_Missense_Mutation_p.E70K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E70K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	70					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGCTTTGATGAGAAGGCCTA	0.592																																																	0													98	96	97					14																	69787458		2203	4300	6503	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.208G>A	14.37:g.69787458G>A	ENSP00000336729:p.Glu70Lys		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E70K	ENST00000337827.4	37	c.208	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.681520	0.96774	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.55234	0.65;0.65;0.53	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.62684	0.2448	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.98;0.985	T	0.54490	-0.8286	10	0.19590	T	0.45	.	19.6506	0.95805	0.0:0.0:1.0:0.0	.	70;70	Q8N428;Q58A55	GLTL1_HUMAN;.	K	70	ENSP00000336729:E70K;ENSP00000402970:E70K;ENSP00000451200:E70K	ENSP00000336729:E70K	E	+	1	0	GALNTL1	68857211	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.660000	0.90430	0.650000	0.86243	GAG	GALNT16	-	NULL	ENSG00000100626		0.592	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	HGNC	protein_coding	OTTHUMT00000412434.1	-	0	31	0	G	NM_001168368		69787458	1	tier1	-	no_errors	ENST00000337827	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	69787458	G	A	69787458	3	1	41	1	0	0	0	0	1	0	0	0	6246	1291	45	3	214	3	GALNTL1	14	69787458	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	17598756	69787458	37562082	157	10101											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72137868	72137868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtccagagatgtgccttCctttgggcctcccattccta	6	12	9	14	0	0	1	0	0	0	1	4	2	4	1	6	2	1	0	6	2	1	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:72137868C>T	ENST00000555818.1	+	8	2636	c.2288C>T	c.(2287-2289)tCc>tTc	p.S763F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S238F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S763F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S763F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	763	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGTGCCTTCCTTTGGGCCT	0.438																																																	0													246	237	240					14																	72137868		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2288C>T	14.37:g.72137868C>T	ENSP00000450832:p.Ser763Phe		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.S763F	ENST00000555818.1	37	c.2288	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052772	0.75960	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.91	5.91	0.95273	Rap/ran-GAP (2);	0.156244	0.64402	D	0.000014	D	0.90380	0.6989	N	0.03029	-0.43	0.47819	D	0.99952	P;B;P;B;P	0.52463	0.951;0.056;0.953;0.171;0.918	P;B;P;B;P	0.59761	0.847;0.233;0.863;0.137;0.694	D	0.92635	0.6119	10	0.62326	D	0.03	-25.2962	15.7416	0.77901	0.0:0.8642:0.1358:0.0	.	238;763;238;763;763	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	763;763;763;238	ENSP00000370630:S763F;ENSP00000450832:S763F;ENSP00000351352:S763F;ENSP00000440682:S238F	ENSP00000351352:S763F	S	+	2	0	SIPA1L1	71207621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.840000	0.62817	2.813000	0.96785	0.655000	0.94253	TCC	SIPA1L1	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000197555		0.438	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0	61	0	C	NM_015556		72137868	1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	13.75	69	11	SNP	1.000	T	T	72137868	C	T	72137868	3	4	41	1	0	0	0	0	1	0	0	0	14374	855	30	3	2314	3	SIPA1L1	14	72137868	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	2350410	72137868	35211672	158	10102											
DPF3	8110	genome.wustl.edu	37	chr14	73190360	73190360	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgtcctctagtcctgttcTttcgcttgggaatatcctct	4	16	7	14	2	3	0	0	0	3	0	7	1	6	1	4	1	0	2	4	1	3	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:73190360T>G	ENST00000556509.1	-	5	505	c.506A>C	c.(505-507)aAg>aCg	p.K169T	DPF3_ENST00000546183.1_Missense_Mutation_p.K179T|DPF3_ENST00000541685.1_Missense_Mutation_p.K169T|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	169					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGTCCTGTTCTTTCGCTTGGG	0.448																																																	0													254	257	256					14																	73190360		1896	4131	6027	SO:0001583	missense	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.506A>C	14.37:g.73190360T>G	ENSP00000450518:p.Lys169Thr		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K224T	ENST00000556509.1	37	c.671		14	.	.	.	.	.	.	.	.	.	.	T	21.6	4.169924	0.78452	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91843	-2.92;-0.35;-0.4	5.07	5.07	0.68467	.	.	.	.	.	D	0.95443	0.8520	M	0.73217	2.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.981	D;D;D	0.97110	1.0;0.999;0.932	D	0.95960	0.8961	9	0.87932	D	0	.	14.8682	0.70434	0.0:0.0:0.0:1.0	.	179;169;169	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	169;169;168;169;179	ENSP00000450518:K169T;ENSP00000441640:K169T;ENSP00000444662:K179T	ENSP00000381791:K224T	K	-	2	0	DPF3	72260113	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	4.203000	0.58453	1.918000	0.55548	0.459000	0.35465	AAG	DPF3	-	NULL	ENSG00000205683		0.448	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0	87	0	T			73190360	-1	tier1	-	no_errors	ENST00000366353	ensembl	human	known	74_37	missense	21.36	81	22	SNP	1.000	G	G	73190360	T	G	73190360	3	3	41	1	0	0	0	0	1	0	0	0	4732	1609	56	4	587	4	DPF3	14	73190360	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	1052492	73190360	34159180	159	10103											
C14orf115	55237	genome.wustl.edu	37	chr14	74825015	74825015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccgttggcagaggcGtctgcgcagggctgcccgca	4	7	15	15	4	1	1	0	0	1	1	2	1	2	1	3	3	2	5	3	3	0	1	rs376151213		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:74825015G>A	ENST00000256362.4	+	2	1770	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	510					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGGCAGAGGCGTCTGCGCAGG	0.677																																																	0								G	HIS/ARG	1,4401		0,1,2200	54	59	57		1529	2.4	0.7	14		57	0,8596		0,0,4298	no	missense	VRTN	NM_018228.2	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	510/703	74825015	1,12997	2201	4298	6499	SO:0001583	missense	0			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 115", "vertebrae development homolog (pig)"	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1529G>A	14.37:g.74825015G>A	ENSP00000256362:p.Arg510His		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.R510H	ENST00000256362.4	37	c.1529	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267474	0.59540	2.27E-4	0.0	ENSG00000133980	ENST00000256362	T	0.49139	0.79	4.29	2.38	0.29361	.	0.229979	0.34268	U	0.004106	T	0.30603	0.0770	L	0.27053	0.805	0.09310	N	1	B	0.22541	0.071	B	0.08055	0.003	T	0.22871	-1.0204	10	0.72032	D	0.01	-4.8035	7.3672	0.26781	0.3773:0.0:0.6227:0.0	.	510	Q9H8Y1	VRTN_HUMAN	H	510	ENSP00000256362:R510H	ENSP00000256362:R510H	R	+	2	0	VRTN	73894768	0.969000	0.33509	0.654000	0.29608	0.949000	0.60115	1.860000	0.39428	0.403000	0.25479	0.491000	0.48974	CGT	VRTN	-	NULL	ENSG00000133980		0.677	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	-	0	79	0	G	NM_018228		74825015	1	tier1	-	no_errors	ENST00000256362	ensembl	human	known	74_37	missense	20.59	108	28	SNP	0.004	A	A	74825015	G	A	74825015	3	1	41	1	0	0	0	0	1	0	0	0	1745	1145	40	1	1531	1	C14orf115	14	74825015	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1634655	74825015	32524525	160	10104											
YLPM1	56252	genome.wustl.edu	37	chr14	75247267	75247267	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagtatcagcagattataCagcccccaccacatatacag	16	7	5	13	0	1	1	1	0	0	1	1	1	1	1	3	0	5	2	3	0	6	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:75247267C>T	ENST00000552421.1	+	3	1394	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.Q424*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q424*			P49750	YLPM1_HUMAN	YLP motif containing 1	424	Gln-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCAGATTATACAGCCCCCACC	0.438																																																	0													152	145	147					14																	75247267		1972	4161	6133	SO:0001587	stop_gained	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1270C>T	14.37:g.75247267C>T	ENSP00000447921:p.Gln424*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.Q424*	ENST00000552421.1	37	c.1270		14	.	.	.	.	.	.	.	.	.	.	C	38	6.740360	0.97805	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-7.7784	19.2748	0.94027	0.0:1.0:0.0:0.0	.	.	.	.	X	424;424;424;137	.	ENSP00000238571:Q424X	Q	+	1	0	YLPM1	74317020	1.000000	0.71417	0.990000	0.47175	0.889000	0.51656	6.818000	0.75257	2.558000	0.86282	0.655000	0.94253	CAG	YLPM1	-	NULL	ENSG00000119596		0.438	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0	69	0	C	NM_019589		75247267	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	75247267	C	T	75247267	4	4	41	1	0	0	0	0	0	1	0	0	17535	479	17	3	1280	3	YLPM1	14	75247267	Nonsense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	422252	75247267	32102273	161	10105											
AHSA1	10598	genome.wustl.edu	37	chr14	77935532	77935532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcggacgcgacagggctgGcagcggtactactttgaggg	8	6	18	9	4	0	1	0	1	0	0	0	4	0	2	0	5	4	3	0	5	2	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:77935532G>T	ENST00000216479.3	+	9	1117	c.957G>T	c.(955-957)tgG>tgT	p.W319C	AHSA1_ENST00000555457.1_3'UTR|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	319					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GACAGGGCTGGCAGCGGTACT	0.572																																																	0													172	160	164					14																	77935532		2203	4300	6503	SO:0001583	missense	0			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"chromosome 14 open reading frame 3"	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.957G>T	14.37:g.77935532G>T	ENSP00000216479:p.Trp319Cys		B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.W319C	ENST00000216479.3	37	c.957	CCDS9863.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.623884|4.623884	0.87460|0.87460	.|.	.|.	ENSG00000100591|ENSG00000100591	ENST00000555729|ENST00000555133;ENST00000216479;ENST00000557476	.|T	.|0.58652	.|0.32	5.46|5.46	5.46|5.46	0.80206|0.80206	.|START-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81659|0.81659	0.4869|0.4869	M|M	0.90252|0.90252	3.1|3.1	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.84701|0.84701	0.0728|0.0728	5|10	.|0.87932	.|D	.|0	-5.3466|-5.3466	19.4922|19.4922	0.95054|0.95054	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|319	.|O95433	.|AHSA1_HUMAN	S|C	114|184;319;101	.|ENSP00000451474:W101C	.|ENSP00000216479:W319C	A|W	+|+	1|3	0|0	AHSA1|AHSA1	77005285|77005285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.531000|9.531000	0.98054|0.98054	2.843000|2.843000	0.97960|0.97960	0.591000|0.591000	0.81541|0.81541	GCA|TGG	AHSA1	-	pfam_Activator_of_Hsp90_ATPase	ENSG00000100591		0.572	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	HGNC	protein_coding	OTTHUMT00000414017.1	-	0	37	0	G	NM_012111		77935532	1	tier1	-	no_errors	ENST00000216479	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	77935532	G	T	77935532	3	4	41	1	0	0	0	0	1	0	0	0	418	1212	42	3	991	3	AHSA1	14	77935532	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2688265	77935532	29414008	162	10106											
SERPINA12	145264	genome.wustl.edu	37	chr14	94964377	94964377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggtcagctcgtggaTgatgtaatggaagccctcat	8	12	12	9	1	3	1	2	1	1	0	4	3	3	3	1	3	2	2	1	3	2	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:94964377T>A	ENST00000341228.2	-	3	1153	c.358A>T	c.(358-360)Atc>Ttc	p.I120F	SERPINA12_ENST00000556881.1_Missense_Mutation_p.I120F	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	120					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AGCTCGTGGATGATGTAATGG	0.522																																																	0													151	149	150					14																	94964377		2203	4300	6503	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.358A>T	14.37:g.94964377T>A	ENSP00000342109:p.Ile120Phe			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I120F	ENST00000341228.2	37	c.358	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771877	0.31320	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87809	-2.3;-2.3	5.49	0.478	0.16789	Serpin domain (3);	0.486553	0.18649	N	0.135074	T	0.82268	0.5000	L	0.58101	1.795	0.09310	N	1	B	0.23990	0.095	B	0.29077	0.098	T	0.71813	-0.4479	10	0.62326	D	0.03	.	5.5218	0.16938	0.0852:0.0735:0.3923:0.449	.	120	Q8IW75	SPA12_HUMAN	F	120	ENSP00000451738:I120F;ENSP00000342109:I120F	ENSP00000342109:I120F	I	-	1	0	SERPINA12	94034130	0.170000	0.23016	0.000000	0.03702	0.001000	0.01503	-0.034000	0.12225	-0.434000	0.07275	-1.042000	0.02369	ATC	SERPINA12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000165953		0.522	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	-	0	43	0	T	NM_173850		94964377	-1	tier1	-	no_errors	ENST00000341228	ensembl	human	known	74_37	missense	17.24	48	10	SNP	0.005	A	A	94964377	T	A	94964377	3	1	41	1	0	0	0	0	1	0	0	0	14134	1464	51	5	902	5	SERPINA12	14	94964377	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	17028845	94964377	12385163	163	10107											
PAPOLA	10914	genome.wustl.edu	37	chr14	97018947	97018947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtccattgaacagttctgGcagctctcaggggtaaggaa	11	9	12	9	0	2	1	1	1	2	0	4	2	3	2	1	4	2	4	1	4	3	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:97018947G>A	ENST00000216277.8	+	17	1872	c.1652G>A	c.(1651-1653)gGc>gAc	p.G551D	PAPOLA_ENST00000392990.2_Missense_Mutation_p.G551D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	551	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AACAGTTCTGGCAGCTCTCAG	0.433																																					NSCLC(19;254 734 11908 35501 39234)												0													89	83	85					14																	97018947		2203	4300	6503	SO:0001583	missense	0			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1652G>A	14.37:g.97018947G>A	ENSP00000216277:p.Gly551Asp		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.G551D	ENST00000216277.8	37	c.1652	CCDS9946.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.54|13.54	2.267666|2.267666	0.40095|0.40095	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000556459|ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.126948	.|0.56097	.|D	.|0.000039	T|T	0.51635|0.51635	0.1686|0.1686	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999994|0.999994	.|B;P;B	.|0.40144	.|0.1;0.704;0.19	.|B;B;B	.|0.33521	.|0.041;0.165;0.023	T|T	0.52124|0.52124	-0.8617|-0.8617	5|9	.|0.12103	.|T	.|0.63	.|.	19.3796|19.3796	0.94527|0.94527	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|567;567;551	.|F5H5I8;B4DYF4;P51003	.|.;.;PAPOA_HUMAN	T|D	52|551;567;551;301	.|.	.|ENSP00000216277:G551D	A|G	+|+	1|2	0|0	PAPOLA|PAPOLA	96088700|96088700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.409000|5.409000	0.66374|0.66374	2.644000|2.644000	0.89710|0.89710	0.650000|0.650000	0.86243|0.86243	GCA|GGC	PAPOLA	-	pirsf_PolyA_polymerase	ENSG00000090060		0.433	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	-	0	44	0	G			97018947	1	tier1	-	no_errors	ENST00000216277	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	97018947	G	A	97018947	3	1	41	1	0	0	0	0	1	0	0	0	11468	1203	42	3	1718	3	PAPOLA	14	97018947	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2054570	97018947	10330593	164	10108											
HHIPL1	84439	genome.wustl.edu	37	chr14	100135215	100135215	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgtcccagctccttccGtgtgcagctcattgacgtct	5	13	9	14	2	2	1	1	1	1	0	5	1	5	1	3	0	3	4	3	0	1	3	rs138192019	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:100135215G>T	ENST00000330710.5	+	7	1828				HHIPL1_ENST00000357223.2_Missense_Mutation_p.V593L	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGCTCCTTCCGTGTGCagctc	0.602																																																	0													86	81	83					14																	100135215		2203	4300	6503	SO:0001627	intron_variant	0			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1730+575G>T	14.37:g.100135215G>T			A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH	p.V593L	ENST00000330710.5	37	c.1777	CCDS45162.1	14	.	.	.	.	.	.	.	.	.	.	G	8.793	0.931102	0.18131	.	.	ENSG00000182218	ENST00000357223	T	0.13538	2.58	2.13	0.97	0.19692	.	24.178300	0.00397	U	0.000046	T	0.12860	0.0312	.	.	.	0.09310	N	1	P	0.48162	0.906	P	0.45577	0.486	T	0.12941	-1.0528	9	0.27785	T	0.31	.	3.5472	0.07832	0.7733:0.0:0.2267:0.0	.	593	Q96JK4-2	.	L	593	ENSP00000349757:V593L	ENSP00000349757:V593L	V	+	1	0	HHIPL1	99204968	0.000000	0.05858	0.008000	0.14137	0.057000	0.15508	-0.498000	0.06420	0.257000	0.21650	-0.379000	0.06801	GTG	HHIPL1	-	NULL	ENSG00000182218		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	-	0	27	0	G	XM_041566		100135215	1	tier1	-	no_errors	ENST00000357223	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.012	T	T	100135215	G	T	100135215	1	4	41	0	1	0	0	0	0	0	0	0	7120	1145	40	2		2	HHIPL1	14	100135215	Intron	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	3116268	100135215	7214325	165	10109											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102449489	102449489	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattttcacacatttgagAaagatccgaaacacaaaata	18	9	5	9	1	1	2	1	1	0	2	2	4	2	2	2	0	1	0	2	0	5	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:102449489A>G	ENST00000360184.4	+	6	1259	c.1095A>G	c.(1093-1095)agA>agG	p.R365R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	365	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACATTTGAGAAAGATCCGAA	0.423																																																	0													76	75	75					14																	102449489		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1095A>G	14.37:g.102449489A>G			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R365	ENST00000360184.4	37	c.1095	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-1	ENSG00000197102		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	39	0	A	NM_001376		102449489	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	G	G	102449489	A	G	102449489	2	3	41	1	0	0	0	0	0	0	0	1	4855	243	9	4		4	DYNC1H1	14	102449489	Silent	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	2314274	102449489	4900051	166	10110											
INF2	64423	genome.wustl.edu	37	chr14	105179229	105179229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgagcagaagcaacgggAgctggccgactacctgtgtg	10	6	14	11	3	0	1	0	0	0	1	1	4	0	2	2	2	5	3	2	2	3	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:105179229A>C	ENST00000392634.4	+	18	2787	c.2675A>C	c.(2674-2676)gAg>gCg	p.E892A	INF2_ENST00000330634.7_Missense_Mutation_p.E892A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	892	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGCAACGGGAGCTGGCCGAC	0.637																																																	0													41	46	45					14																	105179229		2087	4210	6297	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2675A>C	14.37:g.105179229A>C	ENSP00000376410:p.Glu892Ala		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.E892A	ENST00000392634.4	37	c.2675	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102533	0.37145	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.47177	0.85;0.85	4.93	3.75	0.43078	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.252874	0.39615	N	0.001304	T	0.41719	0.1171	L	0.46947	1.48	0.80722	D	1	B;B	0.24258	0.082;0.1	B;B	0.26094	0.039;0.066	T	0.26538	-1.0100	10	0.49607	T	0.09	.	11.6293	0.51164	0.8508:0.1492:0.0:0.0	.	892;892	Q27J81-2;Q27J81	.;INF2_HUMAN	A	892	ENSP00000376406:E892A;ENSP00000376410:E892A	ENSP00000252527:E360A	E	+	2	0	INF2	104250274	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.538000	0.53597	0.678000	0.31325	0.379000	0.24179	GAG	INF2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000203485		0.637	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	-	0	63	0	A	NM_022489		105179229	1	tier1	-	no_errors	ENST00000392634	ensembl	human	known	74_37	missense	10.43	103	12	SNP	1.000	C	C	105179229	A	C	105179229	3	2	41	1	0	0	0	0	1	0	0	0	7761	304	11	4	2745	4	INF2	14	105179229	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	2729740	105179229	2170311	167	10111											
PPIB	5479	genome.wustl.edu	37	chr15	64455069	64455069	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttgacggtgactttgggCcccttcttcttctcatcggc	4	14	9	14	2	3	2	1	2	3	0	5	2	3	2	3	3	0	0	3	3	0	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr15:64455069C>G	ENST00000300026.3	-	1	335	c.117G>C	c.(115-117)ggG>ggC	p.G39G	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	39					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	TGACTTTGGGCCCCTTCTTCT	0.667																																					GBM(105;399 1481 32889 33051 36637)												0													20	22	21					15																	64455069		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.117G>C	15.37:g.64455069C>G			A8K534|Q6IBH5|Q9BVK5	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G39	ENST00000300026.3	37	c.117	CCDS10191.1	15																																																																																			PPIB	-	NULL	ENSG00000166794		0.667	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	-	0	113	0	C			64455069	-1	tier1	-	no_errors	ENST00000300026	ensembl	human	known	74_37	silent	27.04	116	43	SNP	0.969	G	G	64455069	C	G	64455069	2	3	41	1	0	0	0	0	0	0	0	1	12361	726	26	5		5	PPIB	15	64455069	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09		64455069	38076323	168	10112											
C15orf32	145858	genome.wustl.edu	37	chr15	93015519	93015519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggctccccctttctcggcGaggccatgtgtctggaccct	4	10	11	16	3	2	0	0	0	2	0	4	2	3	1	4	4	0	1	4	4	0	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr15:93015519G>A	ENST00000333334.2	+	1	636	c.141G>A	c.(139-141)gcG>gcA	p.A47A	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Silent_p.A47A	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	47										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTTTCTCGGCGAGGCCATGTG	0.527																																																	0													103	105	105					15																	93015519		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.141G>A	15.37:g.93015519G>A			C5HTZ8|Q96M45	Silent	SNP	NULL	p.A47	ENST00000333334.2	37	c.141	CCDS10373.1	15																																																																																			C15orf32	-	NULL	ENSG00000183643		0.527	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C15orf32	HGNC	protein_coding	OTTHUMT00000313527.2	-	0	34	0	G	NM_153040		93015519	1	tier1	-	no_errors	ENST00000333334	ensembl	human	known	74_37	silent	23.73	45	14	SNP	0.001	A	A	93015519	G	A	93015519	2	1	41	1	0	0	0	0	0	0	0	1	1795	1045	37	1		1	C15orf32	15	93015519	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	28560450	93015519	9515873	169	10113											
PCSK6	5046	genome.wustl.edu	37	chr15	101866616	101866616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccccaggctgaagtggaCgcagttcaagcactggtctg	9	8	12	12	1	2	1	1	1	1	0	3	2	3	2	2	3	1	4	2	3	2	1	rs373329976	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr15:101866616C>T	ENST00000348070.1	-	17	2142	c.2143G>A	c.(2143-2145)Gtc>Atc	p.V715I	PCSK6_ENST00000358417.3_Missense_Mutation_p.V702I|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	716	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.V715I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGAAGTGGACGCAGTTCAAG	0.537													C|||	2	0.000399361	8e-04	0	5008	,	,		20797	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	pancreas(1)						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4287		0,1,2143	68	76	73		2105,2144,2105,2144	1.2	0.5	15		73	0,8494		0,0,4247	no	missense,missense,missense,missense	PCSK6	NM_138321.1,NM_138320.1,NM_138319.2,NM_002570.3	29,29,29,29	0,1,6390	TT,TC,CC		0.0,0.0233,0.0078	benign,benign,benign,benign	703/963,716/976,703/957,716/970	101866616	1,12781	2144	4247	6391	SO:0001583	missense	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2143G>A	15.37:g.101866616C>T	ENSP00000305056:p.Val715Ile		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.V715I	ENST00000348070.1	37	c.2143		15	.	.	.	.	.	.	.	.	.	.	C	6.892	0.534158	0.13188	2.33E-4	0.0	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;D	0.85556	0.99;-2.0	5.27	1.25	0.21368	Growth factor, receptor (1);	0.327366	0.27478	N	0.019189	T	0.57784	0.2077	N	0.05050	-0.12	0.52099	D	0.999946	B;P;B;B;B	0.45283	0.042;0.855;0.048;0.037;0.028	B;B;B;B;B	0.24974	0.009;0.057;0.017;0.028;0.008	T	0.55939	-0.8061	10	0.16896	T	0.51	-28.5838	9.5073	0.39056	0.0:0.6842:0.0:0.3158	.	716;547;703;716;702	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	I	715;702;546	ENSP00000305056:V715I;ENSP00000351193:V702I	ENSP00000305056:V715I	V	-	1	0	PCSK6	99684139	0.277000	0.24220	0.464000	0.27143	0.701000	0.40568	0.225000	0.17757	0.235000	0.21160	-2.069000	0.00389	GTC	PCSK6	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom	ENSG00000140479		0.537	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		-	0	50	0	C	NM_002570		101866616	-1	tier1	-	no_errors	ENST00000348070	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.115	T	T	101866616	C	T	101866616	3	4	41	1	0	0	0	0	1	0	0	0	11643	536	19	1	1020	1	PCSK6	15	101866616	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	8851097	101866616	664776	170	10114											
BAIAP3	8938	genome.wustl.edu	37	chr16	1391337	1391337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgggcatcctgcctgcctCggacgccacgcgggagcccc	4	5	14	18	4	0	0	0	0	0	0	2	2	1	2	6	3	3	2	6	3	0	0	rs537419858		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:1391337C>T	ENST00000324385.5	+	8	841	c.683C>T	c.(682-684)tCg>tTg	p.S228L	BAIAP3_ENST00000421665.2_Missense_Mutation_p.S193L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S210L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S170L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S165L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S210L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S193L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.S228L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CTGCCTGCCTCGGACGCCACG	0.706																																																	1	Substitution - Missense(1)	urinary_tract(1)											26	27	27					16																	1391337		2193	4284	6477	SO:0001583	missense	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.683C>T	16.37:g.1391337C>T	ENSP00000324510:p.Ser228Leu		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S228L	ENST00000324385.5	37	c.683	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541406	0.45280	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;1.02	4.72	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.389077	0.23949	N	0.042976	T	0.78509	0.4294	L	0.36672	1.1	0.32828	D	0.503698	D;D;D;D;D	0.65815	0.975;0.995;0.967;0.988;0.994	B;P;P;P;P	0.60886	0.356;0.821;0.686;0.793;0.88	T	0.77832	-0.2441	10	0.29301	T	0.29	-12.1023	5.1603	0.15058	0.2182:0.6752:0.0:0.1066	.	193;245;170;228;210	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	L	193;210;228;210;193	ENSP00000407242:S193L;ENSP00000380625:S210L;ENSP00000324510:S228L;ENSP00000380626:S210L;ENSP00000409533:S193L	ENSP00000324510:S228L	S	+	2	0	BAIAP3	1331338	1.000000	0.71417	0.946000	0.38457	0.122000	0.20287	3.587000	0.53957	2.438000	0.82558	0.313000	0.20887	TCG	BAIAP3	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000007516		0.706	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3		0	19	0	C			1391337	1			no_errors	ENST00000324385	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.981	T	T	1391337	C	T	1391337	3	4	41	1	0	0	0	0	1	0	0	0	1305	893	31	1	713	1	BAIAP3	16	1391337	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09		1391337	88963416	171	10115											
METTL9	51108	genome.wustl.edu	37	chr16	21623996	21623996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacagagagaaattatgcGaatcactccaggctgtcttt	13	10	9	9	1	2	2	1	0	1	2	3	4	3	2	1	1	2	2	1	1	4	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:21623996G>A	ENST00000358154.3	+	2	454	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	METTL9_ENST00000396014.4_Missense_Mutation_p.E66K	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	66										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GAAATTATGCGAATCACTCCA	0.348																																																	0													138	123	128					16																	21623996		2199	4300	6499	SO:0001583	missense	0			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"DORA reverse strand protein 1"	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.196G>A	16.37:g.21623996G>A	ENSP00000350874:p.Glu66Lys		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11	p.E66K	ENST00000358154.3	37	c.196	CCDS10598.2	16	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726455	0.89298	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.02	6.02	0.97574	.	0.084176	0.85682	D	0.000000	T	0.56031	0.1958	L	0.39397	1.21	0.58432	D	0.999998	P;P	0.52061	0.876;0.95	B;P	0.46585	0.176;0.521	T	0.49707	-0.8911	9	0.28530	T	0.3	-14.7763	18.0345	0.89296	0.0:0.0:1.0:0.0	.	66;66	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	K	66;66;30	.	ENSP00000350874:E66K	E	+	1	0	METTL9	21531497	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	8.866000	0.92307	2.865000	0.98341	0.655000	0.94253	GAA	METTL9	-	pfam_DREV_MeTrfase	ENSG00000197006		0.348	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METTL9	HGNC	protein_coding	OTTHUMT00000254465.1	-	0	49	0	G	NM_016025		21623996	1	tier1	-	no_errors	ENST00000358154	ensembl	human	known	74_37	missense	26.67	44	16	SNP	1.000	A	A	21623996	G	A	21623996	3	1	41	1	0	0	0	0	1	0	0	0	9546	1059	37	1	202	1	METTL9	16	21623996	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	20232659	21623996	68730757	172	10116											
ZNF768	79724	genome.wustl.edu	37	chr16	30536262	30536262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcagatgccacagctgaagGgcctctgaccggtgtgcacc	8	6	13	14	2	1	3	0	2	1	1	1	3	1	3	4	2	3	3	4	2	1	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:30536262G>A	ENST00000380412.5	-	2	1374	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	ZNF768_ENST00000562803.1_Missense_Mutation_p.P369L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	400					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGCTGAAGGGCCTCTGACC	0.657																																																	0													38	37	37					16																	30536262		2197	4300	6497	SO:0001583	missense	0			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1199C>T	16.37:g.30536262G>A	ENSP00000369777:p.Pro400Leu		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P400L	ENST00000380412.5	37	c.1199	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191678	0.78902	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.27557	1.66	4.72	4.72	0.59763	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000635	T	0.52613	0.1745	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55250	-0.8170	10	0.72032	D	0.01	-10.7095	16.5926	0.84770	0.0:0.0:1.0:0.0	.	400	Q9H5H4	ZN768_HUMAN	L	400;313	ENSP00000369777:P400L	ENSP00000369777:P400L	P	-	2	0	ZNF768	30443763	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.598000	0.98277	2.470000	0.83445	0.436000	0.28706	CCC	ZNF768	-	pfscan_Znf_C2H2	ENSG00000169957		0.657	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	-	0	67	0	G	NM_024671		30536262	-1	tier1	-	no_errors	ENST00000380412	ensembl	human	known	74_37	missense	27.17	67	25	SNP	1.000	A	A	30536262	G	A	30536262	3	1	41	1	0	0	0	0	1	0	0	0	18189	1232	43	3	427	3	ZNF768	16	30536262	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	8912266	30536262	59818491	173	10117											
FAM65A	79567	genome.wustl.edu	37	chr16	67575373	67575373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccaaccatgtggttgtggGcagtgtctcctgtgagacca	7	10	14	10	0	1	1	0	1	1	1	2	2	1	1	4	3	1	2	4	3	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:67575373G>A	ENST00000379312.3	+	11	975	c.854G>A	c.(853-855)gGc>gAc	p.G285D	CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.G295D|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.G301D|FAM65A_ENST00000042381.4_Missense_Mutation_p.G281D|FAM65A_ENST00000422602.2_Missense_Mutation_p.G301D	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	285						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTGGTTGTGGGCAGTGTCTCC	0.557																																																	0													232	207	215					16																	67575373		2198	4300	6498	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.854G>A	16.37:g.67575373G>A	ENSP00000368614:p.Gly285Asp		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.G301D	ENST00000379312.3	37	c.902	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991700	0.93106	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.03094	4.05;4.05;4.05	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.01360	-1.1375	10	0.54805	T	0.06	-22.8089	17.995	0.89181	0.0:0.0:1.0:0.0	.	295;301;285;301	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	D	285;281;301;295	ENSP00000368614:G285D;ENSP00000042381:G281D;ENSP00000400099:G301D	ENSP00000042381:G281D	G	+	2	0	FAM65A	66132874	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.458000	0.97634	2.253000	0.74438	0.561000	0.74099	GGC	FAM65A	-	NULL	ENSG00000039523		0.557	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	-	0	49	0	G	NM_024519		67575373	1	tier1	-	no_errors	ENST00000422602	ensembl	human	known	74_37	missense	7.55	48	4	SNP	1.000	A	A	67575373	G	A	67575373	3	1	41	1	0	0	0	0	1	0	0	0	5621	1203	42	3	880	3	FAM65A	16	67575373	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	37039111	67575373	22779380	174	10118											
SPIRE2	84501	genome.wustl.edu	37	chr16	89925576	89925576	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtgtgtccacaggaaGaagagtctccgtgtggggag	8	9	17	7	1	2	2	0	0	2	2	4	4	3	4	2	4	0	0	2	4	2	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:89925576G>T	ENST00000378247.3	+	9	1319	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*	SPIRE2_ENST00000393062.2_Nonsense_Mutation_p.E426*	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	426					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCCACAGGAAGAAGAGTCTCC	0.652																																																	0													73	68	70					16																	89925576		2197	4300	6497	SO:0001587	stop_gained	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1276G>T	16.37:g.89925576G>T	ENSP00000367494:p.Glu426*		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.E426*	ENST00000378247.3	37	c.1276	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865816	0.91511	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	.	.	.	5.33	5.33	0.75918	.	0.087311	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.0239	16.88	0.86060	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000367494:E426X	E	+	1	0	SPIRE2	88453077	1.000000	0.71417	0.998000	0.56505	0.560000	0.35617	7.606000	0.82863	2.659000	0.90383	0.655000	0.94253	GAA	SPIRE2	-	NULL	ENSG00000204991		0.652	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	-	0	72	0	G	XM_047462		89925576	1	tier1	-	no_errors	ENST00000378247	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	89925576	G	T	89925576	4	4	41	1	0	0	0	0	0	1	0	0	15119	943	33	3	1310	3	SPIRE2	16	89925576	Nonsense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	22350203	89925576	429177	175	10119											
PRPF8	10594	genome.wustl.edu	37	chr17	1582137	1582137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcagaacttcccgacaCaggtggaaagcattcccaaa	16	5	8	12	2	0	1	0	0	0	1	2	3	2	2	2	2	3	2	2	2	4	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:1582137C>T	ENST00000572621.1	-	11	1903	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	PRPF8_ENST00000304992.6_Silent_p.L546L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	546					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTCCCGACACAGGTGGAAAG	0.478																																																	0													71	64	66					17																	1582137		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1638G>A	17.37:g.1582137C>T			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.L546	ENST00000572621.1	37	c.1638	CCDS11010.1	17																																																																																			PRPF8	-	pfam_PROCN,superfamily_Histone-fold	ENSG00000174231		0.478	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2		0	10	0	C			1582137	-1			no_errors	ENST00000304992	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.994	T	T	1582137	C	T	1582137	2	4	41	1	0	0	0	0	0	0	0	1	12617	465	17	3		3	PRPF8	17	1582137	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09		1582137	79613073	176	10120											
RPA1	6117	genome.wustl.edu	37	chr17	1792008	1792008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccacagtggtgtatcttCgcaaagagaactgcatgtac	11	10	11	9	1	1	1	0	0	1	1	2	2	1	1	1	2	3	4	1	2	4	3	rs139432886		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:1792008C>T	ENST00000254719.5	+	14	1524	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	472					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GGTGTATCTTCGCAAAGAGAA	0.532								Nucleotide excision repair (NER)																																									0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	114	101	105		1414	5.2	1	17	dbSNP_134	105	0,8600		0,0,4300	no	missense	RPA1	NM_002945.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	472/617	1792008	1,13005	2203	4300	6503	SO:0001583	missense	0			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1414C>T	17.37:g.1792008C>T	ENSP00000254719:p.Arg472Cys		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	p.R472C	ENST00000254719.5	37	c.1414	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883485	0.91740	2.27E-4	0.0	ENSG00000132383	ENST00000254719	T	0.46451	0.87	6.17	5.21	0.72293	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75116	-0.3431	10	0.87932	D	0	-5.9881	15.5517	0.76158	0.0:0.9345:0.0:0.0655	.	472	P27694	RFA1_HUMAN	C	472	ENSP00000254719:R472C	ENSP00000254719:R472C	R	+	1	0	RPA1	1738758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.735000	0.55044	1.635000	0.50512	0.655000	0.94253	CGC	RPA1	-	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	ENSG00000132383		0.532	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	-	0	40	0	C	NM_002945		1792008	1	tier1	rs139432886	no_errors	ENST00000254719	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	T	T	1792008	C	T	1792008	3	4	41	1	0	0	0	0	1	0	0	0	13581	884	31	1	1468	1	RPA1	17	1792008	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	209871	1792008	79403202	177	10121											
ZZEF1	23140	genome.wustl.edu	37	chr17	3912906	3912906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcctcacctgggcacGgttctcggtgacgaagaaga	9	7	13	12	3	3	3	2	1	1	2	4	4	3	3	2	4	0	2	2	4	2	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:3912906G>A	ENST00000381638.2	-	53	8849	c.8725C>T	c.(8725-8727)Cgt>Tgt	p.R2909C		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2909							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACCTGGGCACGGTTCTCGGTG	0.637																																																	0													83	70	74					17																	3912906		2203	4300	6503	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8725C>T	17.37:g.3912906G>A	ENSP00000371051:p.Arg2909Cys		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.R2909C	ENST00000381638.2	37	c.8725	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276005	0.80580	.	.	ENSG00000074755	ENST00000381638	T	0.22945	1.93	5.64	4.62	0.57501	.	0.114699	0.64402	D	0.000016	T	0.30510	0.0767	L	0.27053	0.805	0.49915	D	0.99983	D	0.76494	0.999	P	0.54140	0.743	T	0.03545	-1.1026	10	0.72032	D	0.01	-11.7643	15.6467	0.77061	0.0:0.0:0.8114:0.1886	.	2909	O43149	ZZEF1_HUMAN	C	2909	ENSP00000371051:R2909C	ENSP00000371051:R2909C	R	-	1	0	ZZEF1	3859655	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.405000	0.52630	2.823000	0.97156	0.643000	0.83706	CGT	ZZEF1	-	NULL	ENSG00000074755		0.637	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0	29	0	G	NM_015113		3912906	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.992	A	A	3912906	G	A	3912906	3	1	41	1	0	0	0	0	1	0	0	0	18303	1116	39	1	172	1	ZZEF1	17	3912906	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2120898	3912906	77282304	178	10122											
TP53	7157	genome.wustl.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	9	11	11	10	1	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	4	rs397516437|rs28934573		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573						139	108	118					17																	7577559		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S241F	ENST00000269305.4	37	c.722	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	36	0	G	NM_000546		7577559	-1	tier1	rs28934573	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A	A	7577559	G	A	7577559	3	1	41	1	0	0	0	0	1	0	0	0	16429	1174	41	3	568	3	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	3664653	7577559	73617651	179	10123											
CCDC144A	9720	genome.wustl.edu	37	chr17	16630859	16630859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattctgctagcctaccaaGaatccaagacacattttgtt	13	12	6	10	0	1	3	0	0	1	3	2	3	2	3	3	0	3	2	3	0	5	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:16630859G>T	ENST00000360524.8	+	9	1986	c.1910G>T	c.(1909-1911)aGa>aTa	p.R637I	CCDC144A_ENST00000399273.1_Missense_Mutation_p.R637I|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R357I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R637I|CCDC144A_ENST00000443444.2_Missense_Mutation_p.R637I	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	637																	AGCCTACCAAGAATCCAAGAC	0.323																																																	0													2	2	2					17																	16630859		729	1853	2582	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1910G>T	17.37:g.16630859G>T	ENSP00000353717:p.Arg637Ile		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.R637I	ENST00000360524.8	37	c.1910	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.391|8.391	0.839761|0.839761	0.16891|0.16891	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000328495|ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	.|T;T;T;T;T;T	.|0.22743	.|1.94;1.94;1.94;1.94;1.94;1.94	2.08|2.08	0.928|0.928	0.19443|0.19443	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14270	.|0.0345	L|L	0.29908|0.29908	0.895|0.895	0.23406|0.23406	N|N	0.997749|0.997749	.|B;B	.|0.29085	.|0.232;0.149	.|B;B	.|0.30251	.|0.113;0.076	.|T	.|0.27536	.|-1.0071	.|9	.|0.87932	.|D	.|0	.|.	5.0359|5.0359	0.14434|0.14434	0.8231:0.0:0.1769:0.0|0.8231:0.0:0.1769:0.0	.|.	.|357;637	.|A2RUR9-3;A2RUR9	.|.;C144A_HUMAN	X|I	121|637;637;637;637;357;637	.|ENSP00000382215:R637I;ENSP00000439262:R637I;ENSP00000440655:R637I;ENSP00000353717:R637I;ENSP00000394201:R357I;ENSP00000353685:R637I	.|ENSP00000353685:R637I	E|R	+|+	1|2	0|0	CCDC144A|CCDC144A	16571584|16571584	1.000000|1.000000	0.71417|0.71417	0.013000|0.013000	0.15412|0.15412	0.001000|0.001000	0.01503|0.01503	4.204000|4.204000	0.58460|0.58460	0.083000|0.083000	0.17047|0.17047	-0.515000|-0.515000	0.04445|0.04445	GAA|AGA	CCDC144A	-	NULL	ENSG00000170160		0.323	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	-	0	25	0	G			16630859	1	tier1	-	no_errors	ENST00000360524	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.696	T	T	16630859	G	T	16630859	3	4	41	1	0	0	0	0	1	0	0	0	2784	942	33	3	1944	3	CCDC144A	17	16630859	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	9053300	16630859	64564351	180	10124											
TRIM16L	147166	genome.wustl.edu	37	chr17	18630877	18630877	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcagtggctgaaatgcagTttggggaactccttgctgct	9	11	13	8	0	0	1	0	1	0	0	1	2	1	2	1	3	5	6	1	3	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:18630877T>A	ENST00000449552.2	+	4	1491	c.7T>A	c.(7-9)Ttt>Att	p.F3I	TRIM16L_ENST00000395672.2_Missense_Mutation_p.F3I|TRIM16L_ENST00000395902.3_Missense_Mutation_p.F57I|TRIM16L_ENST00000395671.4_Missense_Mutation_p.F3I|TRIM16L_ENST00000414850.2_Missense_Mutation_p.F3I|TRIM16L_ENST00000572555.1_Missense_Mutation_p.F3I|TRIM16L_ENST00000571708.1_Missense_Mutation_p.F3I			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	3						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TGAAATGCAGTTTGGGGAACT	0.552																																																	0													103	87	92					17																	18630877		2203	4300	6503	SO:0001583	missense	0			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"tripartite motif-containing 16-like"				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.7T>A	17.37:g.18630877T>A	ENSP00000461386:p.Phe3Ile		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	p.F57I	ENST00000449552.2	37	c.169	CCDS32588.1	17	.	.	.	.	.	.	.	.	.	.	t	18.60	3.658914	0.67586	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000414850;ENST00000424146;ENST00000395671	T;D;D	0.84442	-1.07;-1.85;-1.85	3.25	3.25	0.37280	.	0.169073	0.42682	U	0.000679	D	0.90170	0.6928	M	0.70275	2.135	0.40635	D	0.981894	D;D;D;D	0.89917	0.981;1.0;1.0;1.0	D;D;D;D	0.91635	0.962;0.998;0.999;0.998	D	0.90678	0.4603	10	0.87932	D	0	-7.0156	9.8481	0.41039	0.0:0.0:0.0:1.0	.	3;57;219;3	B4DWQ8;B4DE22;B3KMJ2;Q309B1	.;.;.;TR16L_HUMAN	I	57;3;3;3;3	ENSP00000379239:F57I;ENSP00000379031:F3I;ENSP00000379030:F3I	ENSP00000379030:F3I	F	+	1	0	TRIM16L	18571602	1.000000	0.71417	0.997000	0.53966	0.611000	0.37282	6.492000	0.73654	1.478000	0.48253	0.163000	0.16589	TTT	TRIM16L	-	NULL	ENSG00000108448		0.552	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	-	0	92	0	T	NM_001037330		18630877	1	tier1	-	no_errors	ENST00000395902	ensembl	human	known	74_37	missense	7.34	100	8	SNP	1.000	A	A	18630877	T	A	18630877	3	1	41	1	0	0	0	0	1	0	0	0	16540	1725	60	5	9	5	TRIM16L	17	18630877	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	2000018	18630877	62564333	181	10125											
AATF	26574	genome.wustl.edu	37	chr17	35310466	35310466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggatgacgcggaagaCtcccaaggcgagagtgagga	13	3	18	7	3	0	4	0	2	0	2	1	9	1	7	1	5	0	0	1	5	3	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:35310466C>T	ENST00000225402.5	+	3	815	c.564C>T	c.(562-564)gaC>gaT	p.D188D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	188	Glu-rich.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACGCGGAAGACTCCCAAGGCG	0.507																																					NSCLC(49;901 1159 19183 41572 46244)												0													227	206	213					17																	35310466		2203	4300	6503	SO:0001819	synonymous_variant	0			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.564C>T	17.37:g.35310466C>T			A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Silent	SNP	pfam_AATF_C	p.D188	ENST00000225402.5	37	c.564	CCDS32632.1	17																																																																																			AATF	-	NULL	ENSG00000108270		0.507	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1		0	39	0	C	NM_012138		35310466	1			no_errors	ENST00000225402	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.000	T	T	35310466	C	T	35310466	2	4	41	1	0	0	0	0	0	0	0	1	25	564	20	3		3	AATF	17	35310466	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	16679589	35310466	45884744	182	10126											
ERBB2	2064	genome.wustl.edu	37	chr17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttctacggacgtgggatCctgcaccctcgtctgccccc	4	10	9	18	3	2	0	0	0	2	0	4	2	3	2	5	2	3	1	5	2	1	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251	204	220					17																	37868208		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000141736		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	30	0	C			37868208	1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	37.74	33	20	SNP	1.000	T	T	37868208	C	T	37868208	3	4	41	1	0	0	0	0	1	0	0	0	5222	855	30	3	959	3	ERBB2	17	37868208	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	2557742	37868208	43327002	183	10127											
MED24	9862	genome.wustl.edu	37	chr17	38189432	38189432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcttgtgcatctgctcCgcatgcacagacagcatcgt	7	10	10	14	3	2	1	0	0	2	1	4	1	3	1	2	1	4	5	2	1	0	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:38189432C>T	ENST00000394128.2	-	8	780	c.699G>A	c.(697-699)gcG>gcA	p.A233A	MED24_ENST00000394127.2_Silent_p.A220A|MED24_ENST00000356271.3_Silent_p.A220A|MED24_ENST00000501516.3_Silent_p.A252A|MED24_ENST00000394126.1_Silent_p.A258A|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	233					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCATCTGCTCCGCATGCACAG	0.637																																																	0													61	54	56					17																	38189432		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.699G>A	17.37:g.38189432C>T			A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	pfam_Mediator_Med24_N	p.A233	ENST00000394128.2	37	c.699	CCDS11359.1	17																																																																																			MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.637	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	-	0	30	0	C	NM_014815		38189432	-1	tier1	-	no_errors	ENST00000394128	ensembl	human	known	74_37	silent	48.81	43	41	SNP	0.001	T	T	38189432	C	T	38189432	2	4	41	1	0	0	0	0	0	0	0	1	9480	639	23	1		1	MED24	17	38189432	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	321224	38189432	43005778	184	10128											
TBCD	6904	genome.wustl.edu	37	chr17	80861311	80861311	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttggctgcgagggcgctGcacaacctggcccagcaggc	7	5	16	13	2	0	0	0	0	0	0	0	2	0	0	2	4	4	5	2	4	1	1	rs370932975		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:80861311G>A	ENST00000355528.4	+	19	1891	c.1761G>A	c.(1759-1761)ctG>ctA	p.L587L	TBCD_ENST00000539345.2_Silent_p.L587L|TBCD_ENST00000397466.2_Silent_p.L201L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	587					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGAGGGCGCTGCACAACCTGG	0.562																																																	0								G		0,4016		0,0,2008	28	30	29		1761	3.5	0	17		29	1,8337		0,1,4168	no	coding-synonymous	TBCD	NM_005993.4		0,1,6176	AA,AG,GG		0.012,0.0,0.0081		587/1193	80861311	1,12353	2008	4169	6177	SO:0001819	synonymous_variant	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"tubulin-specific chaperone d"				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1761G>A	17.37:g.80861311G>A			O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.L587	ENST00000355528.4	37	c.1761	CCDS45818.1	17																																																																																			TBCD	-	superfamily_ARM-type_fold	ENSG00000141556		0.562	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	-	0	39	0	G	NM_005993		80861311	1	tier1	-	no_errors	ENST00000355528	ensembl	human	known	74_37	silent	7.14	65	5	SNP	0.171	A	A	80861311	G	A	80861311	2	1	41	1	0	0	0	0	0	0	0	1	15680	1306	46	3		3	TBCD	17	80861311	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	42671879	80861311	333899	185	10129											
ANKRD12	23253	genome.wustl.edu	37	chr18	9279577	9279577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaaacttctgtgagggatCgctttaatgcaagacaattc	13	12	9	7	1	1	2	0	1	1	1	3	3	1	3	0	1	2	3	0	1	5	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:9279577C>T	ENST00000262126.4	+	12	6178	c.5938C>T	c.(5938-5940)Cgc>Tgc	p.R1980C	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R1957C|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R1957C|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1980						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGTGAGGGATCGCTTTAATGC	0.289																																																	0													110	120	116					18																	9279577		2203	4299	6502	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5938C>T	18.37:g.9279577C>T	ENSP00000262126:p.Arg1980Cys		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R1980C	ENST00000262126.4	37	c.5938	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475201	0.84640	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.79141	-1.22;-1.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89017	0.3432	10	0.87932	D	0	-6.7275	20.6525	0.99598	0.0:1.0:0.0:0.0	.	1957;1980	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	C	1957;1980	ENSP00000372932:R1957C;ENSP00000262126:R1980C	ENSP00000262126:R1980C	R	+	1	0	ANKRD12	9269577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	2.890000	0.99128	0.585000	0.79938	CGC	ANKRD12	-	NULL	ENSG00000101745		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	-	0	52	0	C	NM_015208		9279577	1	tier1	-	no_errors	ENST00000262126	ensembl	human	known	74_37	missense	16.84	79	16	SNP	1.000	T	T	9279577	C	T	9279577	3	4	41	1	0	0	0	0	1	0	0	0	640	884	31	1	5980	1	ANKRD12	18	9279577	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09		9279577	68797671	186	10130											
ANKRD12	23253	genome.wustl.edu	37	chr18	9281049	9281049	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccacctataaatctatCagcatttacgaaatccagga	14	10	5	12	1	2	0	1	0	1	0	3	2	3	1	4	1	3	1	4	1	6	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:9281049C>A	ENST00000262126.4	+	13	6354	c.6114C>A	c.(6112-6114)atC>atA	p.I2038I	ANKRD12_ENST00000400020.3_Silent_p.I2015I|ANKRD12_ENST00000383440.2_Silent_p.I2015I|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2038						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATAAATCTATCAGCATTTACG	0.418																																																	0													133	131	132					18																	9281049		2203	4300	6503	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6114C>A	18.37:g.9281049C>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I2038	ENST00000262126.4	37	c.6114	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.418	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	-	0	58	0	C	NM_015208		9281049	1	tier1	-	no_errors	ENST00000262126	ensembl	human	known	74_37	silent	16.67	95	19	SNP	1.000	A	A	9281049	C	A	9281049	2	1	41	1	0	0	0	0	0	0	0	1	640	816	29	3		3	ANKRD12	18	9281049	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1472	9281049	68796199	187	10131											
FAM38B	63895	genome.wustl.edu	37	chr18	10731435	10731435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctttccgccttcgtttccGttcttctcttgcagaccttt	2	19	5	15	3	2	1	0	0	2	1	7	1	5	1	5	0	1	3	5	0	0	7	rs377309185		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:10731435G>A	ENST00000503781.3	-	33	4824	c.4825C>T	c.(4825-4827)Cgg>Tgg	p.R1609W	PIEZO2_ENST00000302079.6_Missense_Mutation_p.R1609W|PIEZO2_ENST00000580640.1_Missense_Mutation_p.R1634W|RP11-21G15.1_ENST00000581724.1_RNA	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1609					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CTTCGTTTCCGTTCTTCTCTT	0.507																																																	0								G	TRP/ARG	1,1383		0,1,691	333	311	318		4825	3.4	0.4	18		318	0,3182		0,0,1591	no	missense	PIEZO2	NM_022068.2	101	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219		1609/2753	10731435	1,4565	692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.4825C>T	18.37:g.10731435G>A	ENSP00000421377:p.Arg1609Trp		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_Piezo	p.R1634W	ENST00000503781.3	37	c.4900		18	.	.	.	.	.	.	.	.	.	.	G	6.621	0.482992	0.12581	7.23E-4	0.0	ENSG00000154864	ENST00000302079	T	0.73469	-0.75	5.36	3.38	0.38709	.	.	.	.	.	T	0.74374	0.3708	L	0.50333	1.59	0.18873	N	0.999983	.	.	.	.	.	.	T	0.66192	-0.5985	7	0.66056	D	0.02	.	10.5764	0.45229	0.0:0.0:0.5166:0.4834	.	.	.	.	W	1609	ENSP00000303316:R1609W	ENSP00000303316:R1609W	R	-	1	2	FAM38B	10721435	0.353000	0.24904	0.384000	0.26145	0.237000	0.25408	0.676000	0.25247	1.199000	0.43173	0.561000	0.74099	CGG	PIEZO2	-	NULL	ENSG00000154864		0.507	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	74	0	G	NM_022068		10731435	-1	tier1	-	no_errors	ENST00000580640	ensembl	human	novel	74_37	missense	6.88	149	11	SNP	0.026	A	A	10731435	G	A	10731435	3	1	41	1	0	0	0	0	1	0	0	0	5577	1144	40	1	3513	1	FAM38B	18	10731435	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1450386	10731435	67345813	188	10132											
C18orf34	374864	genome.wustl.edu	37	chr18	30795550	30795550	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatcaaaacttttctttTcttcttcttttgcttttaat	7	24	2	8	0	6	1	1	1	5	0	6	1	6	1	0	0	2	1	0	0	3	10			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:30795550T>A	ENST00000383096.3	-	19	2224	c.2042A>T	c.(2041-2043)gAa>gTa	p.E681V	CCDC178_ENST00000406524.2_Missense_Mutation_p.E681V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E681V|CCDC178_ENST00000300227.8_Missense_Mutation_p.E643V|CCDC178_ENST00000403303.1_Missense_Mutation_p.E681V|CCDC178_ENST00000583930.1_Missense_Mutation_p.E681V|CCDC178_ENST00000402325.1_Missense_Mutation_p.E681V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	681																	ACTTTTCTTTTCTTCTTCTTT	0.214																																																	0													21	22	21					18																	30795550		2139	4237	6376	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2042A>T	18.37:g.30795550T>A	ENSP00000372576:p.Glu681Val		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.E681V	ENST00000383096.3	37	c.2042	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	T	9.350	1.065295	0.20067	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.17854	2.31;2.31;2.32;2.31;2.25	4.14	2.96	0.34315	.	.	.	.	.	T	0.30135	0.0755	L	0.52573	1.65	0.09310	N	1	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996	D;D;P;P;P	0.67548	0.952;0.929;0.906;0.906;0.906	T	0.04840	-1.0923	9	0.44086	T	0.13	-15.5468	7.7732	0.29021	0.0:0.0:0.2129:0.7871	.	681;681;681;643;681	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	V	681;681;643;681;681	ENSP00000385591:E681V;ENSP00000372576:E681V;ENSP00000300227:E643V;ENSP00000385867:E681V;ENSP00000385234:E681V	ENSP00000300227:E643V	E	-	2	0	C18orf34	29049548	0.395000	0.25254	0.069000	0.20011	0.541000	0.35023	1.039000	0.30266	0.901000	0.36495	0.377000	0.23210	GAA	CCDC178	-	NULL	ENSG00000166960		0.214	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	-	0	74	0	T	NM_198995		30795550	-1	tier1	-	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	18.69	87	20	SNP	0.097	A	A	30795550	T	A	30795550	3	1	41	1	0	0	0	0	1	0	0	0	1909	1783	62	5	581	5	C18orf34	18	30795550	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	20064115	30795550	47281698	189	10133											
CDH7	1005	genome.wustl.edu	37	chr18	63548089	63548089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgctttaaacgactcGcggacatgtatgggactggc	9	9	12	11	4	0	0	0	0	0	0	2	4	0	2	1	3	1	2	1	3	3	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:63548089G>A	ENST00000397968.2	+	12	2743	c.2317G>A	c.(2317-2319)Gcg>Acg	p.A773T	CDH7_ENST00000323011.3_Missense_Mutation_p.A773T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	773					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A773T(3)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAAACGACTCGCGGACATGTA	0.408																																																	3	Substitution - Missense(3)	lung(2)|pancreas(1)											63	65	65					18																	63548089		2202	4300	6502	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2317G>A	18.37:g.63548089G>A	ENSP00000381058:p.Ala773Thr		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A773T	ENST00000397968.2	37	c.2317	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541228	0.85917	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	D;D	0.87491	-2.26;-2.26	5.33	5.33	0.75918	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95398	0.8487	10	0.62326	D	0.03	.	19.0928	0.93235	0.0:0.0:1.0:0.0	.	773	Q9ULB5	CADH7_HUMAN	T	773	ENSP00000319166:A773T;ENSP00000381058:A773T	ENSP00000319166:A773T	A	+	1	0	CDH7	61699069	1.000000	0.71417	0.462000	0.27118	0.964000	0.63967	9.795000	0.99099	2.510000	0.84645	0.650000	0.86243	GCG	CDH7	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000081138		0.408	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	35	0	G	NM_033646		63548089	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	A	A	63548089	G	A	63548089	3	1	41	1	0	0	0	0	1	0	0	0	3122	1087	38	1	2359	1	CDH7	18	63548089	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	32752539	63548089	14529159	190	10134											
VAV1	7409	genome.wustl.edu	37	chr19	6832176	6832178	+	In_Frame_Del	DEL	GAA	GAA	-																															ttcttcaagacaagagaattGaagaagaagtggatggagca																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:6832176_6832178delGAA	ENST00000602142.1	+	15	1555_1557	c.1473_1475delGAA	c.(1471-1476)ttgaag>ttg	p.K494del	VAV1_ENST00000304076.2_In_Frame_Del_p.K494del|VAV1_ENST00000599806.1_In_Frame_Del_p.K439del|VAV1_ENST00000539284.1_In_Frame_Del_p.K397del|VAV1_ENST00000596764.1_In_Frame_Del_p.K462del	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	494	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAAGAGAATTGAAGAAGAAGTGG	0.547																																																	0																																										SO:0001651	inframe_deletion	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1473_1475delGAA	19.37:g.6832182_6832184delGAA	ENSP00000472929:p.Lys494del		B4DVK9|M0QXX6|Q15860	In_Frame_Del	DEL	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.K494in_frame_del	ENST00000602142.1	37	c.1473_1475	CCDS12174.1	19																																																																																			VAV1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141968		0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1		0	40	0	GAA			6832178	1	tier1		no_errors	ENST00000602142	ensembl	human	known	74_37	in_frame_del	16.95	49	10	DEL	1.000:1.000:1.000	-	-	6832178	GAA	-	6832176	7	5	41	1	0	1	0	1	0	0	0	0	17180	1281	45	0	1531	0	VAV1	19	6832176	In_Frame_Del	DEL	GAA	TCGA-JY-A938-01A-11D-A37C-09		6832176	52296807	191	10135											
MUC16	94025	genome.wustl.edu	37	chr19	8961961	8961961	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgctcaccaggacaccGcagatcaggcatgtgatgac	10	8	10	13	1	2	3	2	2	0	1	3	4	3	4	3	2	1	3	3	2	0	1	rs189237583	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:8961961G>T	ENST00000397910.4	-	83	43619	c.43416C>A	c.(43414-43416)tgC>tgA	p.C14472*	MUC16_ENST00000380951.5_Nonsense_Mutation_p.C1113*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22117	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGACACCGCAGATCAGGC	0.493																																																	0													63	62	62					19																	8961961		1967	4162	6129	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43416C>A	19.37:g.8961961G>T	ENSP00000381008:p.Cys14472*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.C14472*	ENST00000397910.4	37	c.43416	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.792302|4.792302	0.90453|0.90453	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|.	.|.	.|.	4.6|4.6	2.47|2.47	0.30058|0.30058	.|.	.|.	.|.	.|.	.|.	T|.	0.16938|.	0.0407|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32455|.	-0.9906|.	3|.	.|0.02654	.|T	.|1	.|.	7.5219|7.5219	0.27633|0.27633	0.1937:0.0:0.8063:0.0|0.1937:0.0:0.8063:0.0	.|.	.|.	.|.	.|.	E|X	1295|14472;1113	.|.	.|ENSP00000370338:C1113X	A|C	-|-	2|3	0|2	MUC16|MUC16	8822961|8822961	0.813000|0.813000	0.29090|0.29090	0.014000|0.014000	0.15608|0.15608	0.000000|0.000000	0.00434|0.00434	1.193000|1.193000	0.32162|0.32162	0.692000|0.692000	0.31613|0.31613	-1.058000|-1.058000	0.02302|0.02302	GCG|TGC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	38	0	G	NM_024690		8961961	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.008	T	T	8961961	G	T	8961961	4	4	41	1	0	0	0	0	0	1	0	0	10011	1079	38	2	115	2	MUC16	19	8961961	Nonsense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2129785	8961961	50167022	192	10136											
MRPL4	51073	genome.wustl.edu	37	chr19	10367465	10367465	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggcactgggcgggccCggcatggcagcatccgctct	8	5	15	13	3	1	1	0	0	1	1	2	1	2	1	2	5	1	5	2	5	1	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:10367465C>A	ENST00000253099.6	+	5	696	c.409C>A	c.(409-411)Cgg>Agg	p.R137R	CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000590669.1_Silent_p.R137R|MRPL4_ENST00000307422.5_Silent_p.R137R|MRPL4_ENST00000393733.2_Silent_p.R137R|MRPL4_ENST00000588502.1_Silent_p.R136R|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	137					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGGGCGGGCCCGGCATGGCAG	0.687																																																	0													36	41	39					19																	10367465		2201	4297	6498	SO:0001819	synonymous_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.409C>A	19.37:g.10367465C>A			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.R137	ENST00000253099.6	37	c.409	CCDS12230.1	19																																																																																			MRPL4	-	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	ENSG00000105364		0.687	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	-	0	61	0	C			10367465	1	tier1	-	no_errors	ENST00000253099	ensembl	human	known	74_37	silent	29.76	59	25	SNP	0.998	A	A	10367465	C	A	10367465	2	1	41	1	0	0	0	0	0	0	0	1	9841	643	23	2		2	MRPL4	19	10367465	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1405504	10367465	48761518	193	10137											
DOCK6	57572	genome.wustl.edu	37	chr19	11333532	11333532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggtgaattccatgcgcAgggtcagcagggctgctgga	7	8	17	9	2	1	1	1	1	0	0	2	2	2	2	1	4	4	4	1	4	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:11333532A>G	ENST00000294618.7	-	26	3130	c.3119T>C	c.(3118-3120)cTg>cCg	p.L1040P	DOCK6_ENST00000319867.7_Missense_Mutation_p.L379P	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1040					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCCATGCGCAGGGTCAGCAG	0.642																																																	0													29	37	34					19																	11333532		2183	4271	6454	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3119T>C	19.37:g.11333532A>G	ENSP00000294618:p.Leu1040Pro		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.L1040P	ENST00000294618.7	37	c.3119	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295526	0.81025	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.25912	1.77;1.77	4.81	4.81	0.61882	.	0.000000	0.56097	D	0.000035	T	0.52224	0.1721	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.75484	0.971;0.986	T	0.58999	-0.7536	10	0.87932	D	0	-14.7165	13.3291	0.60477	1.0:0.0:0.0:0.0	.	379;1040	C9IZV6;Q96HP0	.;DOCK6_HUMAN	P	1040;379	ENSP00000294618:L1040P;ENSP00000321556:L379P	ENSP00000294618:L1040P	L	-	2	0	DOCK6	11194532	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.763000	0.91715	1.808000	0.52836	0.402000	0.26972	CTG	DOCK6	-	NULL	ENSG00000130158		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	-	0	31	0	A	NM_020812		11333532	-1	tier1	-	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	11333532	A	G	11333532	3	3	41	1	0	0	0	0	1	0	0	0	4705	188	7	4	3116	4	DOCK6	19	11333532	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	966067	11333532	47795451	194	10138											
NOTCH3	4854	genome.wustl.edu	37	chr19	15298067	15298067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcacatgagaagctggcGatgccatccacgcagcgacc	11	4	12	14	3	0	1	0	1	0	1	1	4	1	1	3	2	3	3	3	2	1	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:15298067G>A	ENST00000263388.2	-	11	1764	c.1689C>T	c.(1687-1689)atC>atT	p.I563I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	563	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAAGCTGGCGATGCCATCCA	0.647																																																	0													74	62	66					19																	15298067		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1689C>T	19.37:g.15298067G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.I563	ENST00000263388.2	37	c.1689	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	30	0	G	NM_000435		15298067	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	17.19	53	11	SNP	0.984	A	A	15298067	G	A	15298067	2	1	41	1	0	0	0	0	0	0	0	1	10589	1048	37	1		1	NOTCH3	19	15298067	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	3964535	15298067	43830916	195	10139											
ANO8	57719	genome.wustl.edu	37	chr19	17441288	17441288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaactcctcggcccgcGtgatggggctgatacgtcgc	7	8	14	12	5	0	3	0	2	0	1	3	3	1	3	2	3	2	2	2	3	3	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:17441288G>A	ENST00000159087.4	-	9	1177	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	340					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTCGGCCCGCGTGATGGGGCT	0.647																																																	0													27	26	26					19																	17441288		2178	4275	6453	SO:0001583	missense	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1019C>T	19.37:g.17441288G>A	ENSP00000159087:p.Thr340Met		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.T340M	ENST00000159087.4	37	c.1019	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613080	0.66672	.	.	ENSG00000074855	ENST00000159087	T	0.70282	-0.47	4.99	4.99	0.66335	.	0.238170	0.40728	N	0.001023	D	0.87144	0.6104	M	0.91920	3.255	0.47698	D	0.999494	D	0.89917	1.0	D	0.97110	1.0	D	0.90175	0.4238	10	0.87932	D	0	.	15.7257	0.77756	0.0:0.0:1.0:0.0	.	340	Q9HCE9	ANO8_HUMAN	M	340	ENSP00000159087:T340M	ENSP00000159087:T340M	T	-	2	0	ANO8	17302288	1.000000	0.71417	0.720000	0.30636	0.012000	0.07955	7.405000	0.80007	2.307000	0.77673	0.491000	0.48974	ACG	ANO8	-	pfam_Anoctamin	ENSG00000074855		0.647	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	-	0	25	0	G	XM_050644		17441288	-1	tier1	-	no_errors	ENST00000159087	ensembl	human	known	74_37	missense	17.65	42	9	SNP	0.999	A	A	17441288	G	A	17441288	3	1	41	1	0	0	0	0	1	0	0	0	703	1145	40	1	2719	1	ANO8	19	17441288	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2143221	17441288	41687695	196	10140											
SLC7A9	11136	genome.wustl.edu	37	chr19	33355051	33355051	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatttgaggaggcttgcaGcccacatagaagggcgcaca	12	6	13	10	2	0	2	0	1	0	1	0	4	0	3	1	3	2	3	1	3	2	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:33355051G>T	ENST00000023064.4	-	4	620	c.429C>A	c.(427-429)ggC>ggA	p.G143G	SLC7A9_ENST00000587772.1_Silent_p.G143G|SLC7A9_ENST00000590341.1_Silent_p.G143G|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	143					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAGGCTTGCAGCCCACATAGA	0.587																																					GBM(181;1335 2108 9644 44178 46689)												0													92	74	80					19																	33355051		2203	4300	6503	SO:0001819	synonymous_variant	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.429C>A	19.37:g.33355051G>T			B2R9A6	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.G143	ENST00000023064.4	37	c.429	CCDS12425.1	19																																																																																			SLC7A9	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.587	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	-	0	34	0	G			33355051	-1	tier1	-	no_errors	ENST00000023064	ensembl	human	known	74_37	silent	20.37	43	11	SNP	1.000	T	T	33355051	G	T	33355051	2	4	41	1	0	0	0	0	0	0	0	1	14750	958	34	3		3	SLC7A9	19	33355051	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	15913763	33355051	25773932	197	10141											
FAM187B	148109	genome.wustl.edu	37	chr19	35719355	35719355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaatgagaaggctgccctCgggcattatttccatattgg	9	14	10	8	1	0	1	0	1	0	1	2	2	1	1	2	3	1	2	2	3	4	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:35719355C>T	ENST00000324675.3	-	1	277	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	77						integral component of membrane (GO:0016021)		p.E77*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGCTGCCCTCGGGCATTATT	0.507																																																	1	Substitution - Nonsense(1)	lung(1)											57	57	57					19																	35719355		2203	4300	6503	SO:0001583	missense	0			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"transmembrane protein 162"	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.229G>A	19.37:g.35719355C>T	ENSP00000323355:p.Glu77Lys		Q8N7G6	Missense_Mutation	SNP	NULL	p.E77K	ENST00000324675.3	37	c.229	CCDS12448.1	19	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717312	0.30413	.	.	ENSG00000177558	ENST00000324675	T	0.22945	1.93	4.81	1.2	0.21068	Immunoglobulin-like fold (1);	1.691540	0.03265	N	0.183811	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	P	0.48407	0.91	B	0.41571	0.36	T	0.13791	-1.0496	10	0.10377	T	0.69	-0.7822	2.7624	0.05311	0.1819:0.5331:0.1762:0.1089	.	77	Q17R55	F187B_HUMAN	K	77	ENSP00000323355:E77K	ENSP00000323355:E77K	E	-	1	0	FAM187B	40411195	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.121000	0.10643	0.240000	0.21263	0.655000	0.94253	GAG	FAM187B	-	NULL	ENSG00000177558		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1	-	0	31	0	C	NM_152481		35719355	-1	tier1	-	no_errors	ENST00000324675	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.000	T	T	35719355	C	T	35719355	3	4	41	1	0	0	0	0	1	0	0	0	5532	893	31	1	888	1	FAM187B	19	35719355	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	2364304	35719355	23409628	198	10142											
ZNF571	51276	genome.wustl.edu	37	chr19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-																															cctgaatgaactctcaggtgGtaagtaagttgtgagccacg																								rs531640879	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:38056190_38056193delGTAA	ENST00000328550.2	-	4	1236_1239	c.1137_1140delTTAC	c.(1135-1140)acttacfs	p.TY379fs	ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Frame_Shift_Del_p.TY379fs|ZNF571_ENST00000451802.2_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000358744.3_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377														5	0.000998403	0	0	5008	,	,		22055	0		0	False		,,,				2504	0.0051																0																																										SO:0001589	frameshift_variant	0			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1137_1140delTTAC	19.37:g.38056194_38056197delGTAA	ENSP00000333660:p.Thr379fs		Q2HIY0|Q3ZCU3|Q9NZX7	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y380fs	ENST00000328550.2	37	c.1140_1137	CCDS12505.1	19																																																																																			ZNF571	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180479		0.377	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1		0	63	0	GTAA	NM_016536		38056193	-1	tier1		no_errors	ENST00000328550	ensembl	human	known	74_37	frame_shift_del	10.34	52	6	DEL	0.000:0.000:0.000:0.000	-	-	38056193	GTAA	-	38056190	7	5	41	1	0	1	0	1	0	0	0	0	18051	1256	44	0	693	0	ZNF571	19	38056190	Frame_Shift_Del	DEL	GTAA	TCGA-JY-A938-01A-11D-A37C-09	2336835	38056190	21072793	199	10143											
NCCRP1	342897	genome.wustl.edu	37	chr19	39691112	39691112	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgggagaggaccccctggCcgctgggtccaggtgagact	6	7	16	12	1	1	2	0	1	1	2	2	5	2	3	4	5	0	1	4	5	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:39691112C>A	ENST00000339852.4	+	5	697	c.675C>A	c.(673-675)ggC>ggA	p.G225G		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	225	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GACCCCCTGGCCGCTGGGTCC	0.672																																					Melanoma(107;1207 1556 14956 29427 52130)												0													47	56	53					19																	39691112		2203	4299	6502	SO:0001819	synonymous_variant	0			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.675C>A	19.37:g.39691112C>A			Q6NVV5	Silent	SNP	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	p.G225	ENST00000339852.4	37	c.675	CCDS12529.1	19																																																																																			NCCRP1	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000188505		0.672	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCCRP1	HGNC	protein_coding	OTTHUMT00000463829.1	-	0	34	0	C	NM_001001414		39691112	1	tier1	-	no_errors	ENST00000339852	ensembl	human	known	74_37	silent	14.74	81	14	SNP	0.012	A	A	39691112	C	A	39691112	2	1	41	1	0	0	0	0	0	0	0	1	10252	726	26	3		3	NCCRP1	19	39691112	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1634922	39691112	19437871	200	10144											
SAMD4B	55095	genome.wustl.edu	37	chr19	39860506	39860506	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccacccagccaccacActggaggaccgcaacgcact	11	4	7	19	2	1	0	1	0	0	0	2	2	2	2	5	2	2	2	5	2	1	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:39860506A>T	ENST00000314471.6	+	6	1443	c.408A>T	c.(406-408)acA>acT	p.T136T	RN7SL566P_ENST00000467650.2_RNA|SAMD4B_ENST00000598913.1_Silent_p.T136T|SAMD4B_ENST00000596368.1_Silent_p.T136T	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGCCACCACACTGGAGGACC	0.607																																																	0													58	44	49					19																	39860506		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.408A>T	19.37:g.39860506A>T			A5Z0M6|Q6P194	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.T136	ENST00000314471.6	37	c.408	CCDS33020.1	19																																																																																			SAMD4B	-	NULL	ENSG00000179134		0.607	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1		0	50	0	A	NM_018028		39860506	1			no_errors	ENST00000314471	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.024	T	T	39860506	A	T	39860506	2	4	41	1	0	0	0	0	0	0	0	1	13867	146	6	5		5	SAMD4B	19	39860506	Silent	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	169394	39860506	19268477	201	10145											
SUPT5H	6829	genome.wustl.edu	37	chr19	39955492	39955492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagggctacatctacGtggaggcctacaagcagacc	12	7	12	10	1	1	2	0	1	1	1	1	3	1	3	2	3	4	2	2	3	5	3	rs570927495		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:39955492G>A	ENST00000599117.1	+	12	1046	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	SUPT5H_ENST00000598725.1_Missense_Mutation_p.V227M|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V227M|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V223M|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V223M			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	227	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACATCTACGTGGAGGCCTA	0.587																																																	0													102	90	94					19																	39955492		2203	4300	6503	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.679G>A	19.37:g.39955492G>A	ENSP00000470252:p.Val227Met		O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.V227M	ENST00000599117.1	37	c.679	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617286	0.87359	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	Transcription antitermination protein, NusG, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.83334	-0.0011	8	.	.	.	-19.4543	18.4325	0.90632	0.0:0.0:1.0:0.0	.	223;227	O00267-2;O00267	.;SPT5H_HUMAN	M	227;223;205;227	.	.	V	+	1	0	SUPT5H	44647332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.916000	0.63362	2.645000	0.89757	0.655000	0.94253	GTG	SUPT5H	-	pfam_TF_Spt5_NGN-domain,smart_Transcrpt_antiterm_NusG_N_dom,pirsf_TF_Spt5	ENSG00000196235		0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	-	0	26	0	G	NM_003169		39955492	1	tier1	-	no_errors	ENST00000432763	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	A	A	39955492	G	A	39955492	3	1	41	1	0	0	0	0	1	0	0	0	15446	1145	40	1	717	1	SUPT5H	19	39955492	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	94986	39955492	19173491	202	10146											
SPTBN4	57731	genome.wustl.edu	37	chr19	41062986	41062986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtatggcagggcgggaaCggctggcagctgtgaaccag	9	5	18	9	2	0	1	0	1	0	0	0	2	0	2	1	6	3	5	1	6	3	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:41062986C>T	ENST00000352632.3	+	26	5433	c.5347C>T	c.(5347-5349)Cgg>Tgg	p.R1783W	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1783W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1783W|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R459W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1783W|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R526W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1783					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGCGGGAACGGCTGGCAGC	0.602																																																	0													37	34	35					19																	41062986		2199	4294	6493	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5347C>T	19.37:g.41062986C>T	ENSP00000263373:p.Arg1783Trp		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1783W	ENST00000352632.3	37	c.5347	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299700	0.60195	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	3.59	3.59	0.41128	.	0.000000	0.56097	D	0.000038	T	0.76407	0.3983	M	0.93808	3.46	0.41665	D	0.989204	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	T	0.80928	-0.1163	10	0.54805	T	0.06	.	10.503	0.44817	0.1945:0.8055:0.0:0.0	.	526;459;1783;1783	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	W	1783;1783;1783;526;459	ENSP00000263373:R1783W;ENSP00000340345:R1783W;ENSP00000375879:R526W;ENSP00000375877:R459W	ENSP00000340345:R1783W	R	+	1	2	SPTBN4	45754826	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.345000	0.59360	2.004000	0.58718	0.455000	0.32223	CGG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0	70	0	C			41062986	1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	8.00	115	10	SNP	1.000	T	T	41062986	C	T	41062986	3	4	41	1	0	0	0	0	1	0	0	0	15168	527	19	1	5445	1	SPTBN4	19	41062986	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1107494	41062986	18065997	203	10147											
ZNF221	7638	genome.wustl.edu	37	chr19	44470960	44470960	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggattttatacaaattcaCgacgatcttcccatcagaga	14	11	7	9	2	3	1	2	0	1	1	4	5	4	2	1	1	1	0	1	1	3	5	rs148293806		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:44470960C>T	ENST00000251269.5	+	6	1634	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF221_ENST00000587682.1_Nonsense_Mutation_p.R436*|ZNF221_ENST00000592350.1_Nonsense_Mutation_p.R436*	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TACAAATTCACGACGATCTTC	0.418																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	68	69	68		1306	-3.2	0	19	dbSNP_134	68	0,8600		0,0,4300	yes	stop-gained	ZNF221	NM_013359.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		436/618	44470960	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1306C>T	19.37:g.44470960C>T	ENSP00000251269:p.Arg436*		B2RAI6|Q2M2H2|Q9P1U8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R436*	ENST00000251269.5	37	c.1306	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	c	37	6.527040	0.97637	2.27E-4	0.0	ENSG00000159905	ENST00000251269	.	.	.	1.58	-3.15	0.05233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	1.2749	0.02028	0.1653:0.2271:0.4109:0.1967	.	.	.	.	X	436	.	ENSP00000251269:R436X	R	+	1	2	ZNF221	49162800	0.000000	0.05858	0.000000	0.03702	0.912000	0.54170	-9.120000	0.00013	-0.655000	0.05387	0.313000	0.20887	CGA	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159905		0.418	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	-	0	48	0	C			44470960	1	tier1	rs148293806	no_errors	ENST00000251269	ensembl	human	known	74_37	nonsense	23.64	42	13	SNP	0.000	T	T	44470960	C	T	44470960	4	4	41	1	0	0	0	0	0	1	0	0	17823	528	19	1	1320	1	ZNF221	19	44470960	Nonsense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	3407974	44470960	14658023	204	10148											
ZNF222	7673	genome.wustl.edu	37	chr19	44536593	44536593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaattcatactggggagaagCcattcaaatgtgaaatatgt	15	11	10	5	0	2	2	2	1	0	1	2	4	2	2	1	2	2	0	1	2	6	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:44536593C>T	ENST00000187879.8	+	4	928	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.P296S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P256S(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGGGGAGAAGCCATTCAAATG	0.393																																																	1	Substitution - Missense(1)	ovary(1)											131	136	134					19																	44536593		2203	4300	6503	SO:0001583	missense	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"Zinc fingers, C2H2-type", "-"	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.766C>T	19.37:g.44536593C>T	ENSP00000187879:p.Pro256Ser		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P296S	ENST00000187879.8	37	c.886	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439738	0.63067	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.16743	2.32;2.32	2.79	0.389	0.16269	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37046	0.0989	M	0.79011	2.435	0.29816	N	0.831248	D;D	0.89917	0.997;1.0	D;D	0.73380	0.934;0.98	T	0.23154	-1.0196	9	0.66056	D	0.02	.	7.6732	0.28470	0.1829:0.6394:0.1776:0.0	.	296;256	G5E9B9;Q9UK12	.;ZN222_HUMAN	S	296;256;202	ENSP00000375822:P296S;ENSP00000187879:P256S	ENSP00000187879:P256S	P	+	1	0	ZNF222	49228433	0.924000	0.31332	0.006000	0.13384	0.461000	0.32589	4.270000	0.58896	0.029000	0.15352	0.205000	0.17691	CCA	ZNF222	-	pfscan_Znf_C2H2	ENSG00000159885		0.393	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2		0	46	0	C			44536593	1			no_errors	ENST00000391960	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.999	T	T	44536593	C	T	44536593	3	4	41	1	0	0	0	0	1	0	0	0	17824	739	26	3	919	3	ZNF222	19	44536593	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	65633	44536593	14592390	205	10149											
CRX	1406	genome.wustl.edu	37	chr19	48342943	48342943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgctcttccccctccGcctatgggtctccgagctcc	2	13	7	19	2	3	0	0	0	3	0	7	1	6	0	6	1	2	2	6	1	1	3	rs376982187		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:48342943G>A	ENST00000221996.7	+	4	825	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	CRX_ENST00000539067.1_Missense_Mutation_p.A207T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	207					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCCCCCTCCGCCTATGGGTC	0.687																																					Pancreas(57;461 1196 22201 40716 47188)												0								G	THR/ALA	0,4406		0,0,2203	78	84	82		619	1.5	0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRX	NM_000554.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	207/300	48342943	1,13005	2203	4300	6503	SO:0001583	missense	0			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.619G>A	19.37:g.48342943G>A	ENSP00000221996:p.Ala207Thr		Q0QD45	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A207T	ENST00000221996.7	37	c.619	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191335	0.38707	0.0	1.16E-4	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90069	-2.61;-2.61	3.93	1.55	0.23275	Transcription factor Otx, C-terminal (1);	0.615695	0.15680	N	0.249979	T	0.75803	0.3899	N	0.22421	0.69	0.09310	N	1	P	0.41450	0.75	B	0.34536	0.185	T	0.64651	-0.6357	10	0.14252	T	0.57	-9.5996	9.5279	0.39175	0.0:0.4627:0.5373:0.0	.	207	O43186	CRX_HUMAN	T	207	ENSP00000221996:A207T;ENSP00000445565:A207T	ENSP00000221996:A207T	A	+	1	0	CRX	53034755	0.995000	0.38212	0.004000	0.12327	0.533000	0.34776	3.662000	0.54510	0.834000	0.34852	0.467000	0.42956	GCC	CRX	-	pfam_Otx_TF_C	ENSG00000105392		0.687	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	-	0	58	0	G	NM_000554		48342943	1	tier1	-	no_errors	ENST00000221996	ensembl	human	known	74_37	missense	15.38	98	18	SNP	0.024	A	A	48342943	G	A	48342943	3	1	41	1	0	0	0	0	1	0	0	0	3909	1087	38	1	629	1	CRX	19	48342943	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	3806350	48342943	10786040	206	10150											
SYT3	84258	genome.wustl.edu	37	chr19	51135871	51135871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaggccagccgccaggtGgtgcccgcctccgcctacca	6	4	11	20	3	0	0	0	0	0	0	1	0	1	0	9	3	3	0	9	3	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:51135871G>T	ENST00000338916.4	-	2	979	c.346C>A	c.(346-348)Cac>Aac	p.H116N	SYT3_ENST00000600079.1_Missense_Mutation_p.H116N|SYT3_ENST00000544769.1_Missense_Mutation_p.H116N|SYT3_ENST00000593901.1_Missense_Mutation_p.H116N	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	116					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCGCCAGGTGGTGCCCGCCT	0.721																																																	0													14	17	16					19																	51135871		2195	4290	6485	SO:0001583	missense	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.346C>A	19.37:g.51135871G>T	ENSP00000340914:p.His116Asn		Q8N5Z1|Q8N640	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.H116N	ENST00000338916.4	37	c.346	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613255	0.28712	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.58060	0.36;0.36	3.91	3.91	0.45181	.	0.224046	0.22181	U	0.063509	T	0.29158	0.0725	N	0.08118	0	0.36980	D	0.894246	B	0.34241	0.444	B	0.30029	0.11	T	0.26985	-1.0087	10	0.10377	T	0.69	.	15.8557	0.78977	0.0:0.0:1.0:0.0	.	116	Q9BQG1	SYT3_HUMAN	N	116	ENSP00000340914:H116N;ENSP00000438883:H116N	ENSP00000340914:H116N	H	-	1	0	SYT3	55827683	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.725000	0.61979	2.444000	0.82710	0.563000	0.77884	CAC	SYT3	-	NULL	ENSG00000213023		0.721	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	-	0	20	0	G	NM_032298		51135871	-1	tier1	-	no_errors	ENST00000338916	ensembl	human	known	74_37	missense	19.15	38	9	SNP	1.000	T	T	51135871	G	T	51135871	3	4	41	1	0	0	0	0	1	0	0	0	15522	1348	47	3	1454	3	SYT3	19	51135871	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	2792928	51135871	7993112	207	10151											
ZNF347	84671	genome.wustl.edu	37	chr19	53644505	53644505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatttgcaaggtgtgAattttgagtgaagaccttgc	10	15	12	4	0	0	6	0	5	0	1	0	6	0	6	1	1	2	1	1	1	3	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:53644505A>G	ENST00000334197.7	-	5	1644	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	ZNF347_ENST00000601469.2_Missense_Mutation_p.S527P|ZNF347_ENST00000452676.2_Missense_Mutation_p.S527P|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCAAGGTGTGAATTTTGAGTG	0.408																																					Melanoma(64;205 1597 17324 45721)												0													140	139	140					19																	53644505		2203	4300	6503	SO:0001583	missense	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"Zinc fingers, C2H2-type", "-"	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1576T>C	19.37:g.53644505A>G	ENSP00000334146:p.Ser526Pro		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S527P	ENST00000334197.7	37	c.1579	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633083	0.29068	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07908	3.15;3.15	3.01	-6.02	0.02192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	M	0.83603	2.65	0.09310	N	1	D;D	0.76494	0.999;0.989	D;P	0.70227	0.968;0.796	T	0.03524	-1.1028	9	0.56958	D	0.05	.	2.4337	0.04477	0.1927:0.3155:0.0769:0.415	.	527;526	G5E9N4;Q96SE7	.;ZN347_HUMAN	P	526;527	ENSP00000334146:S526P;ENSP00000405218:S527P	ENSP00000334146:S526P	S	-	1	0	ZNF347	58336317	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.003000	0.12901	-2.885000	0.00317	-1.137000	0.01932	TCA	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	-	0	87	0	A	NM_032584		53644505	-1	tier1	-	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	8.82	124	12	SNP	0.000	G	G	53644505	A	G	53644505	3	3	41	1	0	0	0	0	1	0	0	0	17909	246	9	4	947	4	ZNF347	19	53644505	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	2508634	53644505	5484478	208	10152											
SAPS1	22870	genome.wustl.edu	37	chr19	55751414	55751414	+	Frame_Shift_Del	DEL	T	T	-																															cattgggccccttctccgtgTtctgcaccagggcaccggcc																										TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:55751414delT	ENST00000412770.2	-	12	1996	c.1430delA	c.(1429-1431)aacfs	p.N477fs	PPP6R1_ENST00000587283.1_Frame_Shift_Del_p.N477fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	477					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTTCTCCGTGTTCTGCACCAG	0.672																																																	0													16	19	18					19																	55751414		1945	4126	6071	SO:0001589	frameshift_variant	0			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1430delA	19.37:g.55751414delT	ENSP00000414202:p.Asn477fs		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.N477fs	ENST00000412770.2	37	c.1430	CCDS46186.1	19																																																																																			PPP6R1	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000105063		0.672	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1		0	41	0	T	NM_014931		55751414	-1	tier1		no_errors	ENST00000412770	ensembl	human	known	74_37	frame_shift_del	27.59	63	24	DEL	0.097	-	-	55751414	T	-	55751414	7	5	41	1	0	1	0	1	0	0	0	0	13881	1725	60	0	1267	0	SAPS1	19	55751414	Frame_Shift_Del	DEL	T	TCGA-JY-A938-01A-11D-A37C-09	2106909	55751414	3377569	209	10153											
ZNF582	147948	genome.wustl.edu	37	chr19	56895581	56895581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacccgtttgaaggccCtaccacataccttacattgg	10	10	9	12	1	0	2	0	2	0	1	0	3	0	2	4	2	3	1	4	2	4	5			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:56895581C>A	ENST00000301310.4	-	5	1363	c.1205G>T	c.(1204-1206)aGg>aTg	p.R402M	ZNF582_ENST00000586929.1_Missense_Mutation_p.R402M	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTTGAAGGCCCTACCACATAC	0.423																																					Ovarian(183;1887 2032 4349 30507 51343)												0													112	110	111					19																	56895581		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1205G>T	19.37:g.56895581C>A	ENSP00000301310:p.Arg402Met		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R402M	ENST00000301310.4	37	c.1205	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086345	0.36855	.	.	ENSG00000018869	ENST00000301310	T	0.08008	3.14	4.46	-7.04	0.01578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001280	T	0.12646	0.0307	N	0.25380	0.74	0.09310	N	1	D;D	0.71674	0.987;0.998	D;D	0.68765	0.946;0.96	T	0.05852	-1.0860	10	0.87932	D	0	.	16.0056	0.80359	0.0:0.1696:0.0:0.8304	.	402;433	Q96NG8;B4DQZ9	ZN582_HUMAN;.	M	402	ENSP00000301310:R402M	ENSP00000301310:R402M	R	-	2	0	ZNF582	61587393	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.746000	0.04829	-1.226000	0.02574	-0.136000	0.14681	AGG	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.423	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0	43	0	C	NM_144690		56895581	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.001	A	A	56895581	C	A	56895581	3	1	41	1	0	0	0	0	1	0	0	0	18062	681	24	3	352	3	ZNF582	19	56895581	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1144167	56895581	2233402	210	10154											
ZNF776	284309	genome.wustl.edu	37	chr19	58258457	58258457	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcgctgaggcccccggctCaggtaattgtggcgtcttcc	4	9	13	15	4	2	1	1	1	1	0	3	1	3	1	4	4	0	3	4	4	1	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:58258457C>T	ENST00000317178.5	+	1	294	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	AC003006.7_ENST00000594684.1_Intron|ZNF776_ENST00000431353.1_Nonsense_Mutation_p.Q11*	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GCCCCCGGCTCAGGTAATTGT	0.637																																																	0													11	14	13					19																	58258457		1567	3575	5142	SO:0001587	stop_gained	0			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.31C>T	19.37:g.58258457C>T	ENSP00000321812:p.Gln11*		Q6ZS36|Q8N968	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q11*	ENST00000317178.5	37	c.31	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	C	35	5.571109	0.96553	.	.	ENSG00000152443	ENST00000317178;ENST00000431353	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.8734	0.18816	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000321812:Q11X	Q	+	1	0	ZNF776	62950269	0.010000	0.17322	0.033000	0.17914	0.405000	0.30901	-0.923000	0.04000	0.997000	0.38969	0.313000	0.20887	CAG	ZNF776	-	superfamily_Krueppel-associated_box	ENSG00000152443		0.637	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	HGNC	protein_coding	OTTHUMT00000346722.2	-	0	130	0	C	NM_173632		58258457	1	tier1	-	no_errors	ENST00000317178	ensembl	human	known	74_37	nonsense	22.16	144	41	SNP	0.038	T	T	58258457	C	T	58258457	4	4	41	1	0	0	0	0	0	1	0	0	18197	827	29	3	33	3	ZNF776	19	58258457	Nonsense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	1362876	58258457	870526	211	10155											
ENTPD6	955	genome.wustl.edu	37	chr20	25198195	25198195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcggatgtttaacaggAcctacaagctctattcctac	11	11	7	12	1	1	0	0	0	1	0	2	2	2	2	2	2	5	2	2	2	5	6			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:25198195A>G	ENST00000376652.4	+	9	1019	c.856A>G	c.(856-858)Acc>Gcc	p.T286A	ENTPD6_ENST00000354989.5_Missense_Mutation_p.T269A|ENTPD6_ENST00000360031.2_Missense_Mutation_p.T285A|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T286A|Y_RNA_ENST00000365544.1_RNA			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	286					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTTTAACAGGACCTACAAGCT	0.597																																																	0													108	99	102					20																	25198195		2203	4300	6503	SO:0001583	missense	0			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"interleukin 6 signal transducer-2"	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.856A>G	20.37:g.25198195A>G	ENSP00000365840:p.Thr286Ala		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.T286A	ENST00000376652.4	37	c.856	CCDS13170.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.86|18.86	3.712803|3.712803	0.68730|0.68730	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000425813	.|T;T;T;T;T;T;T	.|0.10860	.|2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.044760	.|0.85682	.|D	.|0.000000	T|T	0.29389|0.29389	0.0732|0.0732	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999992|0.999992	.|P;D;P;P;P;D;P;D;P	.|0.55605	.|0.531;0.972;0.599;0.771;0.877;0.959;0.877;0.957;0.926	.|B;P;B;B;P;P;P;P;P	.|0.58266	.|0.381;0.836;0.444;0.444;0.678;0.749;0.627;0.615;0.615	T|T	0.01367|0.01367	-1.1373|-1.1373	5|10	.|0.54805	.|T	.|0.06	-31.9193|-31.9193	14.8057|14.8057	0.69952|0.69952	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|68;268;286;286;286;269;285;285;286	.|B4DHS2;B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;.;ENTP6_HUMAN	G|A	109|269;285;206;182;286;268;220;286;238	.|ENSP00000347084:T269A;ENSP00000353131:T285A;ENSP00000365840:T286A;ENSP00000408098:T268A;ENSP00000395064:T220A;ENSP00000401895:T286A;ENSP00000390646:T238A	.|ENSP00000347084:T269A	D|T	+|+	2|1	0|0	ENTPD6|ENTPD6	25146195|25146195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.183000|0.183000	0.23260|0.23260	7.128000|7.128000	0.77217|0.77217	2.180000|2.180000	0.69256|0.69256	0.379000|0.379000	0.24179|0.24179	GAC|ACC	ENTPD6	-	pfam_GDA1_CD39_NTPase	ENSG00000197586		0.597	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	HGNC	protein_coding	OTTHUMT00000078414.2	-	0	42	0	A			25198195	1	tier1	-	no_errors	ENST00000376652	ensembl	human	known	74_37	missense	14.60	117	20	SNP	1.000	G	G	25198195	A	G	25198195	3	3	41	1	0	0	0	0	1	0	0	0	5159	275	10	4	893	4	ENTPD6	20	25198195	Missense_Mutation	SNP	A	TCGA-JY-A938-01A-11D-A37C-09		25198195	37827325	212	10156											
CTNNBL1	56259	genome.wustl.edu	37	chr20	36500361	36500361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggggacggccggagcccGgagttccgggagaacgagca	9	3	18	11	6	0	1	0	0	0	1	2	6	1	4	3	6	3	2	3	6	1	1	rs146419783		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:36500361G>A	ENST00000361383.6	+	16	1755	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	CTNNBL1_ENST00000373469.1_Silent_p.P294P|CTNNBL1_ENST00000405275.2_Silent_p.P519P|CTNNBL1_ENST00000373473.1_Silent_p.P359P|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	546					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCCGGAGCCCGGAGTTCCGGG	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		17106	0		0	False		,,,				2504	0				Ovarian(184;582 2038 3273 4106 42608)												0								G		1,4405	2.1+/-5.4	0,1,2202	62	62	62		1638	-11.1	0.1	20	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CTNNBL1	NM_030877.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		546/564	36500361	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"nuclear associated protein"	611537	"chromosome 20 open reading frame 33"	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1638G>A	20.37:g.36500361G>A			B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.P519	ENST00000361383.6	37	c.1557	CCDS13298.1	20																																																																																			CTNNBL1	-	NULL	ENSG00000132792		0.602	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	-	0	21	0	G	NM_030877		36500361	1	tier1	rs146419783	no_errors	ENST00000405275	ensembl	human	known	74_37	silent	24.14	22	7	SNP	0.116	A	A	36500361	G	A	36500361	2	1	41	1	0	0	0	0	0	0	0	1	4027	1103	39	1		1	CTNNBL1	20	36500361	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	11302166	36500361	26525159	213	10157											
COL20A1	57642	genome.wustl.edu	37	chr20	61951542	61951542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggggcccccggagcagttCggccgcggtgagttgggccc	4	5	18	14	4	0	1	0	1	0	0	1	2	0	2	4	6	1	3	4	6	0	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:61951542C>T	ENST00000358894.6	+	24	3168	c.3068C>T	c.(3067-3069)tCg>tTg	p.S1023L	COL20A1_ENST00000422202.1_Missense_Mutation_p.S1030L|COL20A1_ENST00000326996.6_Missense_Mutation_p.S1023L|COL20A1_ENST00000435874.1_Missense_Mutation_p.S1030L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1023	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGGAGCAGTTCGGCCGCGGTG	0.746																																																	0													7	9	8					20																	61951542		1863	4042	5905	SO:0001583	missense	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3068C>T	20.37:g.61951542C>T	ENSP00000351767:p.Ser1023Leu		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S1023L	ENST00000358894.6	37	c.3068	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992665	0.54041	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	T;T;T;T;T;D	0.91792	4.27;4.27;4.27;4.27;4.27;-2.91	3.67	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.152719	0.45126	D	0.000391	D	0.95475	0.8530	M	0.82323	2.585	0.42017	D	0.990962	D;D	0.89917	1.0;1.0	D;P	0.68039	0.955;0.903	D	0.95922	0.8931	10	0.66056	D	0.02	.	13.1701	0.59593	0.0:1.0:0.0:0.0	.	1030;1023	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	1023;1023;1030;1030;126;31	ENSP00000351767:S1023L;ENSP00000323077:S1023L;ENSP00000408690:S1030L;ENSP00000414753:S1030L;ENSP00000410799:S126L;ENSP00000406345:S31L	ENSP00000323077:S1023L	S	+	2	0	COL20A1	61421987	0.982000	0.34865	0.836000	0.33094	0.142000	0.21351	3.289000	0.51747	2.002000	0.58637	0.462000	0.41574	TCG	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000101203		0.746	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2		0	14	0	C	NM_020882		61951542	1			no_errors	ENST00000326996	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.988	T	T	61951542	C	T	61951542	3	4	41	1	0	0	0	0	1	0	0	0	3686	893	31	1	3158	1	COL20A1	20	61951542	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	25451181	61951542	1073978	214	10158											
DSCAM	1826	genome.wustl.edu	37	chr21	41423941	41423941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagtggcctgagacaccGattggtaatggaccgtgtga	9	8	14	10	2	0	2	0	2	0	1	0	5	0	3	4	3	0	1	4	3	1	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr21:41423941G>A	ENST00000400454.1	-	30	5606	c.5129C>T	c.(5128-5130)tCg>tTg	p.S1710L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1710					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S1710L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGAGACACCGATTGGTAATG	0.532																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - Missense(1)	skin(1)											135	137	137					21																	41423941		1993	4175	6168	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5129C>T	21.37:g.41423941G>A	ENSP00000383303:p.Ser1710Leu		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1710L	ENST00000400454.1	37	c.5129	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.127141	0.94429	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.61274	0.12;0.2	5.79	5.79	0.91817	.	0.058854	0.64402	D	0.000001	T	0.55986	0.1955	N	0.24115	0.695	0.47094	D	0.999317	D	0.63046	0.992	P	0.49683	0.619	T	0.57533	-0.7795	10	0.49607	T	0.09	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	1710	O60469	DSCAM_HUMAN	L	1710;1462	ENSP00000383303:S1710L;ENSP00000385342:S1462L	ENSP00000383303:S1710L	S	-	2	0	DSCAM	40345811	1.000000	0.71417	0.033000	0.17914	0.940000	0.58332	9.357000	0.97099	2.744000	0.94065	0.650000	0.86243	TCG	DSCAM	-	NULL	ENSG00000171587		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	35	0	G	NM_001389		41423941	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	12.70	54	8	SNP	0.992	A	A	41423941	G	A	41423941	3	1	41	1	0	0	0	0	1	0	0	0	4782	1059	37	1	925	1	DSCAM	21	41423941	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09		41423941	6705954	215	10159											
KRTAP10-7	386675	genome.wustl.edu	37	chr21	46020630	46020630	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggcaggtggacgacTgcccagagagctgctgcgag	8	6	15	12	2	0	1	0	0	0	1	1	5	1	2	2	3	4	3	2	3	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr21:46020630T>A	ENST00000380102.2	+	1	134	c.109T>A	c.(109-111)Tgc>Agc	p.C37S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	37						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GGTGGACGACTGCCCAGAGAG	0.682																																																	0													45	44	44					21																	46020630		1939	4092	6031	SO:0001583	missense	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.109T>A	21.37:g.46020630T>A	ENSP00000369445:p.Cys37Ser		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	NULL	p.C37S	ENST00000380102.2	37	c.109		21	.	.	.	.	.	.	.	.	.	.	N	12.69	2.014493	0.35511	.	.	ENSG00000205441	ENST00000380102	T	0.15718	2.4	4.2	1.62	0.23740	.	.	.	.	.	T	0.23410	0.0566	M	0.82823	2.61	0.23681	N	0.997128	B	0.25312	0.123	B	0.25759	0.063	T	0.19451	-1.0305	9	0.59425	D	0.04	.	8.3564	0.32333	0.0:0.0:0.3939:0.6061	.	37	P60409-2	.	S	37	ENSP00000369445:C37S	ENSP00000369445:C37S	C	+	1	0	KRTAP10-7	44845058	0.001000	0.12720	0.847000	0.33407	0.625000	0.37756	0.540000	0.23191	0.106000	0.17784	0.377000	0.23210	TGC	KRTAP10-7	-	NULL	ENSG00000205441		0.682	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	-	0	122	0	T	NM_198689		46020630	1	tier1	-	no_errors	ENST00000380102	ensembl	human	known	74_37	missense	12.58	139	20	SNP	0.976	A	A	46020630	T	A	46020630	3	1	41	1	0	0	0	0	1	0	0	0	8541	1580	55	5	111	5	KRTAP10-7	21	46020630	Missense_Mutation	SNP	T	TCGA-JY-A938-01A-11D-A37C-09	4596689	46020630	2109265	216	10160											
C1QTNF6	114904	genome.wustl.edu	37	chr22	37578336	37578336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagagccgcacccagacGcggtccccgtaggccaggtc	8	5	13	15	4	0	3	0	1	0	2	2	3	1	3	5	3	1	2	5	3	2	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr22:37578336G>A	ENST00000337843.2	-	3	804	c.729C>T	c.(727-729)cgC>cgT	p.R243R	C1QTNF6_ENST00000397110.2_Silent_p.R243R|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.R119R|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	224	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCACCCAGACGCGGTCCCCGT	0.612																																																	0													72	60	64					22																	37578336		2203	4300	6503	SO:0001819	synonymous_variant	0			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.729C>T	22.37:g.37578336G>A			Q5H9G8|Q6ZRM7	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R243	ENST00000337843.2	37	c.729	CCDS13943.1	22																																																																																			C1QTNF6	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000133466		0.612	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	-	0	11	0	G	NM_182486		37578336	-1	tier1	-	no_errors	ENST00000337843	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.996	A	A	37578336	G	A	37578336	2	1	41	1	0	0	0	0	0	0	0	1	1974	1074	38	1		1	C1QTNF6	22	37578336	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09		37578336	13726230	217	10161											
NPTXR	23467	genome.wustl.edu	37	chr22	39218704	39218704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcttcccagggaaggacGttgcccagcagtggcgcagt	7	9	14	11	2	1	0	0	0	1	0	2	2	2	2	2	3	2	3	2	3	1	3			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr22:39218704G>A	ENST00000333039.2	-	5	1536	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	471	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGGGAAGGACGTTGCCCAGCA	0.612																																					Pancreas(139;2521 3281 36965)												0													62	44	50					22																	39218704		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1413C>T	22.37:g.39218704G>A				Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.N471	ENST00000333039.2	37	c.1413	CCDS33647.1	22																																																																																			NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000221890		0.612	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2		0	27	0	G	NM_014293		39218704	-1			no_errors	ENST00000333039	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.997	A	A	39218704	G	A	39218704	2	1	41	1	0	0	0	0	0	0	0	1	10643	1136	40	1		1	NPTXR	22	39218704	Silent	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	1640368	39218704	12085862	218	10162											
HDAC10	83933	genome.wustl.edu	37	chr22	50685358	50685358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacatccagggtggctgctGcagcagaggctggagtggct	7	7	16	11	0	0	1	0	0	0	1	1	2	1	2	2	5	3	6	2	5	0	0			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr22:50685358G>A	ENST00000216271.5	-	15	1812	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A467V|HDAC10_ENST00000448072.1_Missense_Mutation_p.A437V|TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000248846.5_5'Flank	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	487					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)	p.A487V(1)		endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGCTGCTGCAGCAGAGGC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											35	33	34					22																	50685358		2203	4300	6503	SO:0001583	missense	0			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1460C>T	22.37:g.50685358G>A	ENSP00000216271:p.Ala487Val		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.A487V	ENST00000216271.5	37	c.1460	CCDS14088.1	22	.	.	.	.	.	.	.	.	.	.	G	3.117	-0.181450	0.06340	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.31510	1.49;1.49;1.49	5.18	-7.98	0.01135	.	1.125660	0.06460	N	0.729282	T	0.14917	0.0360	N	0.21448	0.665	0.09310	N	0.999998	B;B;B;B	0.15141	0.002;0.001;0.012;0.001	B;B;B;B	0.14023	0.004;0.002;0.01;0.002	T	0.25222	-1.0138	10	0.30854	T	0.27	3.6715	4.7883	0.13236	0.6162:0.1084:0.1658:0.1096	.	467;437;487;487	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	V	487;437;467	ENSP00000216271:A487V;ENSP00000397542:A437V;ENSP00000343540:A467V	ENSP00000216271:A487V	A	-	2	0	HDAC10	49027485	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.693000	0.05121	-1.089000	0.03073	-0.150000	0.13652	GCA	HDAC10	-	NULL	ENSG00000100429		0.577	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC10	HGNC	protein_coding	OTTHUMT00000104141.4		0	26	0	G	NM_032019		50685358	-1			no_errors	ENST00000216271	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	A	A	50685358	G	A	50685358	3	1	41	1	0	0	0	0	1	0	0	0	7032	1319	46	3	573	3	HDAC10	22	50685358	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09	11466654	50685358	619208	219	10163											
MOSPD2	158747	genome.wustl.edu	37	chrX	14933839	14933839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcaagccaagcaatagcaGctgtgacccgggtgcatcag	12	6	12	11	1	2	1	2	1	0	0	2	1	2	1	2	1	5	4	2	1	4	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:14933839G>T	ENST00000380492.3	+	12	1227	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S380I|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	380	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGCAATAGCAGCTGTGACCCG	0.483																																																	0													121	122	122					X																	14933839		2203	4300	6503	SO:0001583	missense	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1139G>T	X.37:g.14933839G>T	ENSP00000369860:p.Ser380Ile		Q8N3H2|Q8NA83	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.S380I	ENST00000380492.3	37	c.1139	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424077	0.83667	.	.	ENSG00000130150	ENST00000380492	T	0.68025	-0.3	6.03	5.16	0.70880	PapD-like (2);	0.201428	0.64402	D	0.000012	T	0.62841	0.2461	N	0.11255	0.115	0.51012	D	0.999908	D	0.59357	0.985	P	0.60415	0.874	T	0.61700	-0.7009	10	0.19147	T	0.46	.	16.0572	0.80814	0.0:0.1308:0.8692:0.0	.	380	Q8NHP6	MSPD2_HUMAN	I	380	ENSP00000369860:S380I	ENSP00000369860:S380I	S	+	2	0	MOSPD2	14843760	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.386000	0.79775	1.285000	0.44548	0.600000	0.82982	AGC	MOSPD2	-	pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom	ENSG00000130150		0.483	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1		0	50	0	G	NM_152581		14933839	1			no_errors	ENST00000380492	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	14933839	G	T	14933839	3	4	41	1	0	0	0	0	1	0	0	0	9754	971	34	3	1185	3	MOSPD2	23	14933839	Missense_Mutation	SNP	G	TCGA-JY-A938-01A-11D-A37C-09		14933839	140336721	220	10164											
ZFX	7543	genome.wustl.edu	37	chrX	24228809	24228809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggagaagccgtaccaatgCcagtactgcgaatataggtc	12	7	13	9	2	0	1	0	0	0	1	1	3	0	1	3	3	5	2	3	3	7	4			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:24228809C>T	ENST00000379177.1	+	11	2161	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C	ZFX_ENST00000338565.3_Silent_p.C528C|ZFX_ENST00000539115.1_Silent_p.C349C|ZFX_ENST00000540034.1_Silent_p.C617C|ZFX_ENST00000304543.5_Silent_p.C578C|ZFX_ENST00000379188.3_Silent_p.C578C	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	578					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CGTACCAATGCCAGTACTGCG	0.433																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													100	89	93					X																	24228809		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"Zinc fingers, C2H2-type"	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1734C>T	X.37:g.24228809C>T			B9EG97|O43668|Q8WYJ8	Silent	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C617	ENST00000379177.1	37	c.1851	CCDS14211.1	X																																																																																			ZFX	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000005889		0.433	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	-	0	19	0	C	NM_003410		24228809	1	tier1	-	no_errors	ENST00000540034	ensembl	human	known	74_37	silent	38.89	22	14	SNP	1.000	T	T	24228809	C	T	24228809	2	4	41	1	0	0	0	0	0	0	0	1	17709	747	26	3		3	ZFX	23	24228809	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	9294970	24228809	131041751	221	10165											
FAM47A	158724	genome.wustl.edu	37	chrX	34148743	34148743	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagactggacacccgAcgactcttgggaagctccgg	8	6	16	11	3	1	1	0	0	1	1	2	6	2	3	2	5	1	1	2	5	1	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:34148743A>G	ENST00000346193.3	-	1	1704	c.1653T>C	c.(1651-1653)cgT>cgC	p.R551R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	551										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGACACCCGACGACTCTTGG	0.602																																																	0													51	53	52					X																	34148743		2192	4291	6483	SO:0001819	synonymous_variant	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1653T>C	X.37:g.34148743A>G			A8K8I9|Q8TAA0	Silent	SNP	NULL	p.R551	ENST00000346193.3	37	c.1653	CCDS43926.1	X																																																																																			FAM47A	-	NULL	ENSG00000185448		0.602	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0	59	0	A	NM_203408		34148743	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	silent	33.75	53	27	SNP	0.001	G	G	34148743	A	G	34148743	2	3	41	1	0	0	0	0	0	0	0	1	5591	262	10	4		4	FAM47A	23	34148743	Silent	SNP	A	TCGA-JY-A938-01A-11D-A37C-09	9919934	34148743	121121817	222	10166											
ARR3	407	genome.wustl.edu	37	chrX	69496298	69496298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctagatggtgaccaacctgCcctgttctgtgacactgcag	8	10	10	13	0	1	3	0	2	1	1	1	3	1	3	4	1	3	2	4	1	2	2			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:69496298C>T	ENST00000307959.8	+	7	412	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	ARR3_ENST00000374495.3_Missense_Mutation_p.P121S	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	121					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GACCAACCTGCCCTGTTCTGT	0.468																																																	0													106	87	94					X																	69496298		2203	4300	6503	SO:0001583	missense	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"arrestin 4"	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.361C>T	X.37:g.69496298C>T	ENSP00000311538:p.Pro121Ser		B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.P121S	ENST00000307959.8	37	c.361	CCDS14399.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208288	0.79240	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000480877;ENST00000307959	T;T;T	0.39592	1.07;1.07;1.07	4.32	4.32	0.51571	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.93016	3.37	0.51012	D	0.999906	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80901	-0.1175	10	0.87932	D	0	-1.5609	15.2785	0.73760	0.0:1.0:0.0:0.0	.	121;121	P36575;P36575-2	ARRC_HUMAN;.	S	121;121;70;121	ENSP00000363619:P121S;ENSP00000425505:P70S;ENSP00000311538:P121S	ENSP00000311538:P121S	P	+	1	0	ARR3	69413023	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	6.838000	0.75359	1.872000	0.54250	0.600000	0.82982	CCC	ARR3	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000120500		0.468	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2		0	16	0	C	NM_004312		69496298	1			no_errors	ENST00000307959	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	69496298	C	T	69496298	3	4	41	1	0	0	0	0	1	0	0	0	980	739	26	3	383	3	ARR3	23	69496298	Missense_Mutation	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	35347555	69496298	85774262	223	10167											
XPNPEP2	7512	genome.wustl.edu	37	chrX	128888456	128888456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaactccaggtgcgggaCgctgtggctgtgatccggta	6	8	14	13	3	0	1	0	1	0	0	2	2	2	2	4	4	2	3	4	4	2	1			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:128888456C>T	ENST00000371106.3	+	12	1308	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	372						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGTGCGGGACGCTGTGGCTG	0.592																																																	0													45	31	36					X																	128888456		2197	4294	6491	SO:0001819	synonymous_variant	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1116C>T	X.37:g.128888456C>T			A0AV16|O75994	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.D372	ENST00000371106.3	37	c.1116	CCDS14613.1	X																																																																																			XPNPEP2	-	superfamily_Pept_M24_structural-domain	ENSG00000122121		0.592	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	-	0	32	0	C	NM_003399		128888456	1	tier1	-	no_errors	ENST00000371106	ensembl	human	known	74_37	silent	41.82	32	23	SNP	0.359	T	T	128888456	C	T	128888456	2	4	41	1	0	0	0	0	0	0	0	1	17492	535	19	1		1	XPNPEP2	23	128888456	Silent	SNP	C	TCGA-JY-A938-01A-11D-A37C-09	59392158	128888456	26382104	224	10168											
PRAMEF11	440560	genome.wustl.edu	37	chr1	12887301	12887301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaagtggcccaggtatgGggtaaactgtgtcaggatgg	9	9	15	8	0	2	0	2	0	0	0	2	1	2	1	2	6	1	2	2	6	4	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:12887301G>A	ENST00000535591.1	-	3	751	c.556C>T	c.(556-558)Cca>Tca	p.P186S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	186					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCCAGGTATGGGGTAAACTGT	0.493																																																	0																																										SO:0001583	missense	0			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.556C>T	1.37:g.12887301G>A	ENSP00000439551:p.Pro186Ser			Missense_Mutation	SNP	NULL	p.P186S	ENST00000535591.1	37	c.556	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	9.468	1.094937	0.20471	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.15372	2.43;2.43	1.48	0.538	0.17150	.	0.208506	0.40469	N	0.001097	T	0.31638	0.0803	M	0.71871	2.18	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.05784	-1.0864	10	0.56958	D	0.05	.	3.8996	0.09155	0.2384:0.0:0.7616:0.0	.	186	O60813	PRA11_HUMAN	S	186;227;186	ENSP00000439551:P186S;ENSP00000391839:P186S	ENSP00000328783:P227S	P	-	1	0	PRAMEF11	12809888	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.132000	0.10467	0.196000	0.20367	-0.498000	0.04607	CCA	PRAMEF11	-	NULL	ENSG00000204513		0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		-	0	315	0	G	XM_496341		12887301	-1	tier1	-	no_errors	ENST00000535591	ensembl	human	known	74_37	missense	5.74	279	17	SNP	0.002	A	A	12887301	G	A	12887301	3	1	42	1	0	0	0	0	1	0	0	0	12469	1232	43	3	762	3	PRAMEF11	1	12887301	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		12887301	236363320	1	10169											
ARID1A	8289	genome.wustl.edu	37	chr1	27106648	27106648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctgcctgtcctggacGgactcctacactgggcagtt	5	12	11	13	1	0	0	0	0	0	0	2	2	2	2	4	3	3	2	4	3	1	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:27106648G>A	ENST00000324856.7	+	20	6630	c.6259G>A	c.(6259-6261)Gga>Aga	p.G2087R	ARID1A_ENST00000457599.2_Missense_Mutation_p.G1870R|ARID1A_ENST00000540690.1_Missense_Mutation_p.G415R|ARID1A_ENST00000374152.2_Missense_Mutation_p.G1704R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2087			G -> R (found in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:22009941}.		androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.G2087R(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTCCTGGACGGACTCCTACA	0.592			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	breast(1)											89	88	88					1																	27106648		2203	4300	6503	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6259G>A	1.37:g.27106648G>A	ENSP00000320485:p.Gly2087Arg		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G2087R	ENST00000324856.7	37	c.6259	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.30|18.30	3.594610|3.594610	0.66219|0.66219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.051909|.	0.85682|.	N|.	0.000000|.	D|D	0.82337|0.82337	0.5015|0.5015	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.83271|0.83271	-0.0043|-0.0043	10|5	0.87932|.	D|.	0|.	-4.2604|-4.2604	19.0485|19.0485	0.93032|0.93032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1704;2087;1870|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	R|Q	2087;1870;1704;415|983	ENSP00000320485:G2087R;ENSP00000387636:G1870R;ENSP00000363267:G1704R;ENSP00000442437:G415R|.	ENSP00000320485:G2087R|.	G|R	+|+	1|2	0|0	ARID1A|ARID1A	26979235|26979235	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	9.413000|9.413000	0.97351|0.97351	2.814000|2.814000	0.96858|0.96858	0.585000|0.585000	0.79938|0.79938	GGA|CGG	ARID1A	-	pfam_DUF3518	ENSG00000117713		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	53	0	G	NM_139135		27106648	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A	A	27106648	G	A	27106648	3	1	42	1	0	0	0	0	1	0	0	0	913	1117	39	1	6337	1	ARID1A	1	27106648	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	14219347	27106648	222143973	2	10170											
RNF19B	127544	genome.wustl.edu	37	chr1	33402751	33402751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accttcttcttcattctctgCcatctgagcatgaacatgga	9	14	6	12	0	5	2	1	2	4	0	6	3	5	3	2	1	3	1	2	1	1	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:33402751C>T	ENST00000373456.7	-	9	1854	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T	RNF19B_ENST00000235150.4_Missense_Mutation_p.A618T|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	619					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCATTCTCTGCCATCTGAGCA	0.527																																																	0													148	134	139					1																	33402751		2203	4300	6503	SO:0001583	missense	0			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1855G>A	1.37:g.33402751C>T	ENSP00000362555:p.Ala619Thr		B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.A619T	ENST00000373456.7	37	c.1855	CCDS372.2	1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582815	0.46006	.	.	ENSG00000116514	ENST00000373456;ENST00000235150	T;T	0.35236	1.32;1.32	4.59	3.66	0.41972	.	0.332419	0.30969	N	0.008508	T	0.20577	0.0495	N	0.08118	0	0.38911	D	0.957522	P;B	0.35272	0.493;0.361	B;B	0.34242	0.178;0.086	T	0.09997	-1.0649	10	0.34782	T	0.22	.	14.725	0.69339	0.0:0.8542:0.1457:0.0	.	618;619	G3XA82;Q6ZMZ0	.;RN19B_HUMAN	T	619;618	ENSP00000362555:A619T;ENSP00000235150:A618T	ENSP00000235150:A618T	A	-	1	0	RNF19B	33175338	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	2.662000	0.46766	1.051000	0.40369	0.537000	0.68136	GCA	RNF19B	-	NULL	ENSG00000116514		0.527	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF19B	HGNC	protein_coding	OTTHUMT00000011465.3		0	75	0	C	NM_153341		33402751	-1			no_errors	ENST00000373456	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	33402751	C	T	33402751	3	4	42	1	0	0	0	0	1	0	0	0	13516	739	26	3	347	3	RNF19B	1	33402751	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	6296103	33402751	215847870	3	10171											
NCDN	23154	genome.wustl.edu	37	chr1	36028217	36028217	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaccccagggcccacctgGccaggagacgctctccggtg	7	4	12	18	2	1	1	0	0	1	1	2	2	1	1	7	4	0	1	7	4	0	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:36028217G>A	ENST00000373243.2	+	4	1751	c.1368G>A	c.(1366-1368)tgG>tgA	p.W456*	NCDN_ENST00000356090.4_Nonsense_Mutation_p.W456*|NCDN_ENST00000373253.3_Nonsense_Mutation_p.W439*	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	456					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCCCACCTGGCCAGGAGACG	0.592																																																	0													30	31	30					1																	36028217		2203	4300	6503	SO:0001587	stop_gained	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1368G>A	1.37:g.36028217G>A	ENSP00000362340:p.Trp456*		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Nonsense_Mutation	SNP	NULL	p.W456*	ENST00000373243.2	37	c.1368	CCDS392.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.4|23.4	4.409176|4.409176	0.83340|0.83340	.|.	.|.	ENSG00000020129|ENSG00000020129	ENST00000423723|ENST00000373253;ENST00000356090;ENST00000373243	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.36441|.	0.0967|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43782|.	-0.9370|.	3|.	.|0.16896	.|T	.|0.51	.|.	7.9697|7.9697	0.30119|0.30119	0.1129:0.0:0.8871:0.0|0.1129:0.0:0.8871:0.0	.|.	.|.	.|.	.|.	D|X	50|439;456;456	.|.	.|ENSP00000348394:W456X	G|W	+|+	2|3	0|0	NCDN|NCDN	35800804|35800804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.986000|2.986000	0.49370|0.49370	2.434000|2.434000	0.82447|0.82447	0.462000|0.462000	0.41574|0.41574	GGC|TGG	NCDN	-	NULL	ENSG00000020129		0.592	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1		0	31	0	G	NM_014284		36028217	1			no_errors	ENST00000356090	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	A	A	36028217	G	A	36028217	4	1	42	1	0	0	0	0	0	1	0	0	10253	1212	42	3	1382	3	NCDN	1	36028217	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	2625466	36028217	213222404	4	10172											
TEKT2	27285	genome.wustl.edu	37	chr1	36551545	36551545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagacattgatgtggtgaagGaccctgtggaggatgagctg	10	9	17	5	0	0	4	0	3	0	1	0	8	0	7	1	4	1	1	1	4	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:36551545G>T	ENST00000207457.3	+	4	518	c.391G>T	c.(391-393)Gac>Tac	p.D131Y	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	131					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTGGTGAAGGACCCTGTGGA	0.577																																																	0													90	70	77					1																	36551545		2203	4300	6503	SO:0001583	missense	0			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.391G>T	1.37:g.36551545G>T	ENSP00000207457:p.Asp131Tyr		A6NIS6|O60638	Missense_Mutation	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.D131Y	ENST00000207457.3	37	c.391	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438482	0.83885	.	.	ENSG00000092850	ENST00000207457	T	0.26957	1.7	5.51	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71407	-0.4602	10	0.87932	D	0	.	14.1813	0.65577	0.0714:0.0:0.9286:0.0	.	131	Q9UIF3	TEKT2_HUMAN	Y	131	ENSP00000207457:D131Y	ENSP00000207457:D131Y	D	+	1	0	TEKT2	36324132	1.000000	0.71417	0.770000	0.31555	0.995000	0.86356	9.706000	0.98722	1.337000	0.45525	0.655000	0.94253	GAC	TEKT2	-	pfam_Tektin	ENSG00000092850		0.577	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1		0	32	0	G	NM_014466		36551545	1			no_errors	ENST00000207457	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	36551545	G	T	36551545	3	4	42	1	0	0	0	0	1	0	0	0	15800	1174	41	3	401	3	TEKT2	1	36551545	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	523328	36551545	212699076	5	10173											
MACF1	23499	genome.wustl.edu	37	chr1	39906714	39906714	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggtctgcatgaagagctgGagtttattcggatccttgga	9	13	13	6	1	1	2	0	1	1	1	3	5	2	5	1	4	2	3	1	4	2	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:39906714G>T	ENST00000372915.3	+	72	18271	c.18184G>T	c.(18184-18186)Gag>Tag	p.E6062*	MACF1_ENST00000317713.7_Nonsense_Mutation_p.E4104*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E6200*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E4606*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E6163*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3974*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E4104*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E4104*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6062					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAAGAGCTGGAGTTTATTCG	0.398																																																	0													110	112	111					1																	39906714		2203	4300	6503	SO:0001587	stop_gained	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18184G>T	1.37:g.39906714G>T	ENSP00000362006:p.Glu6062*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E4104*	ENST00000372915.3	37	c.12310		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	51|51	17.515589|17.515589	0.99888|0.99888	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.64402|.	D|.	0.000013|.	.|T	.|0.76976	.|0.4063	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74210	.|-0.3739	.|4	0.72032|.	D|.	0.01|.	.|.	20.2191|20.2191	0.98319|0.98319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	4104;6062;4104;4104;3974;4606|3107	.|.	ENSP00000289893:E4606X|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39679301|39679301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GAG|GGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	76	0	G	NM_033044		39906714	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	T	T	39906714	G	T	39906714	4	4	42	1	0	0	0	0	0	1	0	0	9180	1175	41	3	18735	3	MACF1	1	39906714	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3355169	39906714	209343907	6	10174											
WDR65	149465	genome.wustl.edu	37	chr1	43675420	43675420	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctgtgtctcagatccttCgagagatatcggcgtttgat	7	14	11	9	3	1	3	1	1	1	2	5	5	2	3	2	1	1	1	2	1	1	3	rs369556067		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:43675420C>T	ENST00000372492.4	+	11	2086	c.1762C>T	c.(1762-1764)Cga>Tga	p.R588*	WDR65_ENST00000528956.1_Nonsense_Mutation_p.R588*	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		588										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				tcagatCCTTCGAGAGATATC	0.567																																																	0								C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	96	81	86		1762,1762,1762	5.9	1	1		86	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	588/699,588/699,588/699	43675420	1,13005	2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000372492.4:c.1762C>T	1.37:g.43675420C>T	ENSP00000361570:p.Arg588*		A6NKQ3|Q17RI9|Q5TAI0	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R588*	ENST00000372492.4	37	c.1762		1	.	.	.	.	.	.	.	.	.	.	c	37	6.121468	0.97300	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956	.	.	.	5.89	5.89	0.94794	.	0.073040	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.265	0.98459	0.0:1.0:0.0:0.0	.	.	.	.	X	588	.	ENSP00000361570:R588X	R	+	1	2	WDR65	43448007	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	2.293000	0.43558	2.801000	0.96364	0.543000	0.68304	CGA	WDR65	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000243710		0.567	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1		0	39	0	C			43675420	1			no_errors	ENST00000528956	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	1.000	T	T	43675420	C	T	43675420	4	4	42	1	0	0	0	0	0	1	0	0	17365	876	31	1	1800	1	WDR65	1	43675420	Nonsense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	3768706	43675420	205575201	7	10175											
MAST2	23139	genome.wustl.edu	37	chr1	46496277	46496277	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcatcccctgtgcccacAggtgtacagcagcatggagc	9	6	12	14	1	0	0	0	0	0	0	1	1	1	1	3	2	6	4	3	2	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:46496277A>G	ENST00000361297.2	+	22	2836		c.e22-1		MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTGTGCCCACAGGTGTACAGC	0.602																																																	0													12	14	14					1																	46496277		2068	4208	6276	SO:0001630	splice_region_variant	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2554-1A>G	1.37:g.46496277A>G				Splice_Site	SNP	-	e22-2	ENST00000361297.2	37	c.2554-2	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147053	0.77888	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7905	0.63138	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAST2	46268864	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.009000	0.93606	2.037000	0.60232	0.459000	0.35465	.	MAST2	-	-	ENSG00000086015		0.602	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	80	0	A	NM_015112	Intron	46496277	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	splice_site	5.48	69	4	SNP	1.000	G	G	46496277	A	G	46496277	5	3	42	1	0	0	0	0	0	0	1	0	9363	202	7	4	2638	4	MAST2	1	46496277	Splice_Site	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	2820857	46496277	202754344	8	10176											
MAST2	23139	genome.wustl.edu	37	chr1	46501457	46501457	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagcaggggaagacaCagccacctagtgcccccaga	12	2	13	14	0	0	2	0	0	0	2	0	4	0	4	5	3	3	1	5	3	2	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:46501457C>T	ENST00000361297.2	+	29	5399	c.5116C>T	c.(5116-5118)Cag>Tag	p.Q1706*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.Q1516*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGGGAAGACACAGCCACCTAG	0.572																																																	0													59	68	65					1																	46501457		1968	4162	6130	SO:0001587	stop_gained	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.5116C>T	1.37:g.46501457C>T	ENSP00000354671:p.Gln1706*			Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.Q1706*	ENST00000361297.2	37	c.5116	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	c	42	9.624801	0.99223	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	5.8	1.46	0.22682	.	2.068350	0.02044	N	0.049541	.	.	.	.	.	.	0.52099	D	0.999944	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.4142	3.3675	0.07208	0.5211:0.2462:0.0:0.2327	.	.	.	.	X	1706;1516	.	ENSP00000354671:Q1706X	Q	+	1	0	MAST2	46274044	0.001000	0.12720	0.351000	0.25721	0.747000	0.42532	-0.208000	0.09371	0.233000	0.21120	0.651000	0.88453	CAG	MAST2	-	NULL	ENSG00000086015		0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	44	0	C	NM_015112		46501457	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	0.107	T	T	46501457	C	T	46501457	4	4	42	1	0	0	0	0	0	1	0	0	9363	479	17	3	5230	3	MAST2	1	46501457	Nonsense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	5180	46501457	202749164	9	10177											
INADL	10207	genome.wustl.edu	37	chr1	62614014	62614014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttgaaaacatgtctacagGctaccaccttggttcgccca	10	10	8	13	1	1	1	0	1	1	0	2	1	1	1	3	2	3	3	3	2	4	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:62614014G>T	ENST00000371158.2	+	42	5444	c.5330G>T	c.(5329-5331)gGc>gTc	p.G1777V		NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1777					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATGTCTACAGGCTACCACCTT	0.448																																																	0													145	138	141					1																	62614014		1910	4132	6042	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5330G>T	1.37:g.62614014G>T	ENSP00000360200:p.Gly1777Val		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.G1777V	ENST00000371158.2	37	c.5330	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349893	0.61183	.	.	ENSG00000132849	ENST00000371158	T	0.11712	2.75	5.22	5.22	0.72569	.	0.071589	0.53938	D	0.000059	T	0.11239	0.0274	L	0.27053	0.805	0.80722	D	1	B	0.32573	0.376	B	0.34991	0.193	T	0.14282	-1.0478	10	0.41790	T	0.15	.	18.7837	0.91946	0.0:0.0:1.0:0.0	.	1777	Q8NI35	INADL_HUMAN	V	1777	ENSP00000360200:G1777V	ENSP00000360200:G1777V	G	+	2	0	INADL	62386602	1.000000	0.71417	0.960000	0.40013	0.867000	0.49689	8.255000	0.89846	2.432000	0.82394	0.561000	0.74099	GGC	INADL	-	NULL	ENSG00000132849		0.448	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2		0	57	0	G	NM_170605		62614014	1			no_errors	ENST00000371158	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.604	T	T	62614014	G	T	62614014	3	4	42	1	0	0	0	0	1	0	0	0	7758	1203	42	3	5492	3	INADL	1	62614014	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	16112557	62614014	186636607	10	10178											
OLFM3	118427	genome.wustl.edu	37	chr1	102269856	102269856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaacagcacctggtggcCattgttccaggcatagagag	11	9	12	9	0	0	2	0	1	0	1	1	3	1	2	3	3	2	3	3	3	2	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:102269856C>T	ENST00000338858.5	-	6	1374	c.1375G>A	c.(1375-1377)Ggc>Agc	p.G459S	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.G439S|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	459	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ACCTGGTGGCCATTGTTCCAG	0.413																																																	0													169	160	163					1																	102269856		2203	4300	6503	SO:0001583	missense	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1375G>A	1.37:g.102269856C>T	ENSP00000345192:p.Gly459Ser		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.G459S	ENST00000338858.5	37	c.1375		1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689100	0.88735	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.90385	-2.66;-2.66	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.95490	0.8535	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93925	0.7209	10	0.39692	T	0.17	.	19.9831	0.97336	0.0:1.0:0.0:0.0	.	439;459	Q5T3V6;Q96PB7	.;NOE3_HUMAN	S	439;459	ENSP00000359121:G439S;ENSP00000345192:G459S	ENSP00000345192:G459S	G	-	1	0	OLFM3	102042444	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.728000	0.93425	0.650000	0.86243	GGC	OLFM3	-	pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	ENSG00000118733		0.413	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	-	0	57	0	C			102269856	-1	tier1	-	no_errors	ENST00000338858	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	102269856	C	T	102269856	3	4	42	1	0	0	0	0	1	0	0	0	10893	594	21	3	65	3	OLFM3	1	102269856	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	39655842	102269856	146980765	11	10179											
GPSM2	29899	genome.wustl.edu	37	chr1	109465107	109465107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccgatttcaaagcaatagGatggatgatcagagatgttg	14	10	12	5	1	2	2	2	1	0	1	2	6	2	4	1	2	2	2	1	2	3	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:109465107G>T	ENST00000406462.2	+	14	2282	c.1509G>T	c.(1507-1509)agG>agT	p.R503S	GPSM2_ENST00000264126.3_Missense_Mutation_p.R503S|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	503	GoLoco 1. {ECO:0000255|PROSITE- ProRule:PRU00097}.				establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAAGCAATAGGATGGATGATC	0.358																																																	0													147	146	146					1																	109465107		2203	4300	6503	SO:0001583	missense	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1509G>T	1.37:g.109465107G>T	ENSP00000385510:p.Arg503Ser		Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R503S	ENST00000406462.2	37	c.1509	CCDS792.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.11|19.11	3.764206|3.764206	0.69878|0.69878	.|.	.|.	ENSG00000121957|ENSG00000121957	ENST00000441735|ENST00000406462;ENST00000264126	.|D;D	.|0.99304	.|-5.72;-5.72	6.17|6.17	5.27|5.27	0.74061|0.74061	.|GoLoco motif (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99254|0.99254	0.9740|0.9740	M|M	0.81341|0.81341	2.54|2.54	0.51767|0.51767	D|D	0.999931|0.999931	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.99274|0.99274	1.0894|1.0894	5|10	.|0.87932	.|D	.|0	-20.0539|-20.0539	12.482|12.482	0.55850|0.55850	0.133:0.0:0.867:0.0|0.133:0.0:0.867:0.0	.|.	.|503	.|P81274	.|GPSM2_HUMAN	V|S	93|503	.|ENSP00000385510:R503S;ENSP00000264126:R503S	.|ENSP00000264126:R503S	G|R	+|+	2|3	0|2	GPSM2|GPSM2	109266630|109266630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	2.997000|2.997000	0.49457|0.49457	1.636000|1.636000	0.50526|0.50526	-0.136000|-0.136000	0.14681|0.14681	GGA|AGG	GPSM2	-	pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif	ENSG00000121957		0.358	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	-	0	101	0	G	NM_013296		109465107	1	tier1	-	no_errors	ENST00000264126	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	109465107	G	T	109465107	3	4	42	1	0	0	0	0	1	0	0	0	6762	1165	41	3	1555	3	GPSM2	1	109465107	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	7195251	109465107	139785514	12	10180											
KIAA1324	57535	genome.wustl.edu	37	chr1	109743447	109743447	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgccatcatggaaggCgaggatgtagaggacgacct	11	6	15	9	3	1	1	1	0	0	1	1	6	1	4	2	4	2	2	2	4	2	1	rs529832723		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:109743447C>A	ENST00000369939.3	+	21	3081	c.2898C>A	c.(2896-2898)ggC>ggA	p.G966G	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.G879G	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	966					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.G966G(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCATGGAAGGCGAGGATGTAG	0.493											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	large_intestine(1)											110	97	101					1																	109743447		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"estrogen induced gene 121"	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2898C>A	1.37:g.109743447C>A		1422	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.G966	ENST00000369939.3	37	c.2898	CCDS794.1	1																																																																																			KIAA1324	-	NULL	ENSG00000116299		0.493	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2		0	17	0	C	NM_020775		109743447	1			no_errors	ENST00000369939	ensembl	human	known	74_37	silent	10.53	17	2	SNP	0.986	A	A	109743447	C	A	109743447	2	1	42	1	0	0	0	0	0	0	0	1	8250	755	27	2		2	KIAA1324	1	109743447	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	278340	109743447	139507174	13	10181											
CTTNBP2NL	55917	genome.wustl.edu	37	chr1	112998846	112998846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttatcagagtttgacatCgaaagggaacaactgagagc	15	8	11	7	1	1	3	1	2	0	2	2	6	1	4	0	1	3	2	0	1	4	2	rs551998213		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:112998846C>T	ENST00000271277.6	+	6	957	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	244					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTTGACATCGAAAGGGAAC	0.463													C|||	1	0.000199681	8e-04	0	5008	,	,		18354	0		0	False		,,,				2504	0																0													93	104	100					1																	112998846		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.732C>T	1.37:g.112998846C>T			B3KMS5|Q96B40	Silent	SNP	pfam_Cortactin-binding_p2_N	p.I244	ENST00000271277.6	37	c.732	CCDS845.1	1																																																																																			CTTNBP2NL	-	NULL	ENSG00000143079		0.463	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1		0	34	0	C	NM_018704		112998846	1			no_errors	ENST00000271277	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.310	T	T	112998846	C	T	112998846	2	4	42	1	0	0	0	0	0	0	0	1	4055	874	31	1		1	CTTNBP2NL	1	112998846	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	3255399	112998846	136251775	14	10182											
SYT6	148281	genome.wustl.edu	37	chr1	114682356	114682356	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgtggctgatcttcacGgccgcctccaggaagcccag	7	7	13	14	3	2	1	1	1	1	0	3	3	3	2	4	3	1	1	4	3	1	1	rs576443917		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:114682356G>T	ENST00000610222.1	-	2	539	c.393C>A	c.(391-393)gcC>gcA	p.A131A	SYT6_ENST00000369547.1_Silent_p.A46A|SYT6_ENST00000393296.1_Silent_p.A131A|SYT6_ENST00000609117.1_Silent_p.A46A|SYT6_ENST00000607941.1_Silent_p.A46A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	131					acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.A46A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATCTTCACGGCCGCCTCCA	0.617																																																	1	Substitution - coding silent(1)	lung(1)											88	82	84					1																	114682356		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.393C>A	1.37:g.114682356G>T			B1AMB8|B3KPK1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.A131	ENST00000610222.1	37	c.393		1																																																																																			SYT6	-	NULL	ENSG00000134207		0.617	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2		0	43	0	G	NM_205848		114682356	-1			no_errors	ENST00000393296	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.001	T	T	114682356	G	T	114682356	2	4	42	1	0	0	0	0	0	0	0	1	15525	1103	39	2		2	SYT6	1	114682356	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	1683510	114682356	134568265	15	10183											
GJA5	2702	genome.wustl.edu	37	chr1	147230638	147230638	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgcggtttgacaaatcGctgtctgatcttcttccagc	6	13	9	13	3	3	2	0	2	3	0	5	2	4	2	2	1	2	2	2	1	1	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:147230638G>A	ENST00000271348.2	-	2	870	c.709C>T	c.(709-711)Cga>Tga	p.R237*	GJA5_ENST00000369237.1_Nonsense_Mutation_p.R237*|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	237					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)	p.R237*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTGACAAATCGCTGTCTGATC	0.547																																																	1	Substitution - Nonsense(1)	lung(1)											55	57	57					1																	147230638		2203	4300	6503	SO:0001587	stop_gained	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.709C>T	1.37:g.147230638G>A	ENSP00000271348:p.Arg237*		Q5T3B6|Q5U0N6	Nonsense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.R237*	ENST00000271348.2	37	c.709	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561105	0.45590	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	.	.	.	5.68	2.66	0.31614	.	0.786143	0.12208	N	0.489624	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	10.3699	0.44046	0.0:0.1089:0.3456:0.5455	.	.	.	.	X	237	.	ENSP00000271348:R237X	R	-	1	2	GJA5	145697262	0.001000	0.12720	0.001000	0.08648	0.155000	0.21991	1.316000	0.33620	0.285000	0.22329	-0.309000	0.09137	CGA	GJA5	-	NULL	ENSG00000143140		0.547	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2		0	30	0	G	NM_181703		147230638	-1			no_errors	ENST00000271348	ensembl	human	known	74_37	nonsense	5.17	55	3	SNP	0.000	A	A	147230638	G	A	147230638	4	1	42	1	0	0	0	0	0	1	0	0	6430	1095	38	1	371	1	GJA5	1	147230638	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	32548282	147230638	102019983	16	10184											
DENND4B	9909	genome.wustl.edu	37	chr1	153914579	153914579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcgtagaactgcagggcgGcaccatacacctggcagggg	9	5	14	13	2	0	1	0	0	0	1	1	1	0	1	3	5	3	4	3	5	3	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:153914579G>T	ENST00000361217.4	-	6	1239	c.821C>A	c.(820-822)gCc>gAc	p.A274D		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	274	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGCAGGGCGGCACCATACAC	0.662																																																	0													25	30	28					1																	153914579		2083	4185	6268	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.821C>A	1.37:g.153914579G>T	ENSP00000354597:p.Ala274Asp		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A274D	ENST00000361217.4	37	c.821	CCDS44228.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.96|16.96	3.266305|3.266305	0.59540|0.59540	.|.	.|.	ENSG00000198837|ENSG00000198837	ENST00000361217;ENST00000368646|ENST00000472932	T;T|.	0.45668|.	0.89;0.89|.	4.39|4.39	4.39|4.39	0.52855|0.52855	uDENN (3);|.	.|.	.|.	.|.	.|.	T|T	0.80701|0.80701	0.4673|0.4673	M|M	0.89715|0.89715	3.055|3.055	0.54753|0.54753	D|D	0.999986|0.999986	D|.	0.67145|.	0.996|.	D|.	0.67382|.	0.951|.	D|D	0.84621|0.84621	0.0684|0.0684	9|5	0.72032|.	D|.	0.01|.	0.2483|0.2483	15.8831|15.8831	0.79219|0.79219	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	274|.	O75064|.	DEN4B_HUMAN|.	D|T	274;285|123	ENSP00000354597:A274D;ENSP00000357635:A285D|.	ENSP00000354597:A274D|.	A|P	-|-	2|1	0|0	DENND4B|DENND4B	152181203|152181203	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.992000|0.992000	0.81027|0.81027	7.703000|7.703000	0.84585|0.84585	2.292000|2.292000	0.77174|0.77174	0.462000|0.462000	0.41574|0.41574	GCC|CCG	DENND4B	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000198837		0.662	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0	84	0	G	XM_375806		153914579	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.984	T	T	153914579	G	T	153914579	3	4	42	1	0	0	0	0	1	0	0	0	4448	1203	42	3	3761	3	DENND4B	1	153914579	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	6683941	153914579	95336042	17	10185											
MEX3A	92312	genome.wustl.edu	37	chr1	156051653	156051653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccccaaacccaggaggCagagttgatcgagagccagc	11	4	12	14	1	0	3	0	1	0	2	2	5	1	4	4	2	3	3	4	2	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:156051653C>A	ENST00000532414.2	-	1	136	c.137G>T	c.(136-138)tGc>tTc	p.C46F	LMNA_ENST00000368301.2_5'Flank|MEX3A_ENST00000442784.1_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	46						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACCCAGGAGGCAGAGTTGATC	0.731																																																	0													13	14	14					1																	156051653		1316	2646	3962	SO:0001583	missense	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.137G>T	1.37:g.156051653C>A	ENSP00000432845:p.Cys46Phe			Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.C46F	ENST00000532414.2	37	c.137	CCDS53377.1	1	.	.	.	.	.	.	.	.	.	.	c	12.40	1.927124	0.34002	.	.	ENSG00000254726	ENST00000532414	T	0.46819	0.86	2.2	2.2	0.27929	.	0.230379	0.19497	U	0.112840	T	0.08358	0.0208	N	0.08118	0	0.29487	N	0.855902	P	0.39940	0.696	B	0.22753	0.041	T	0.10177	-1.0641	10	0.62326	D	0.03	.	7.9291	0.29891	0.0:1.0:0.0:0.0	.	46	A1L020	MEX3A_HUMAN	F	46	ENSP00000432845:C46F	ENSP00000432845:C46F	C	-	2	0	MEX3A	154318277	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.905000	0.39878	1.232000	0.43678	0.403000	0.27427	TGC	MEX3A	-	NULL	ENSG00000254726		0.731	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3		0	43	0	C	NM_001093725		156051653	-1			no_errors	ENST00000532414	ensembl	human	known	74_37	missense	9.30	38	4	SNP	1.000	A	A	156051653	C	A	156051653	3	1	42	1	0	0	0	0	1	0	0	0	9547	710	25	3	1433	3	MEX3A	1	156051653	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	2137074	156051653	93198968	18	10186											
FCRL3	115352	genome.wustl.edu	37	chr1	157665150	157665150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactcactccatgactgtgCtgggcccccaggccattgtc	7	9	10	15	0	1	2	1	1	0	1	3	2	2	2	4	2	1	1	4	2	0	1	rs559835615		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:157665150C>T	ENST00000368184.3	-	8	1671	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.Q460Q|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	460	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CATGACTGTGCTGGGCCCCCA	0.517																																																	0													168	165	166					1																	157665150		2203	4300	6503	SO:0001819	synonymous_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1380G>A	1.37:g.157665150C>T			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q466	ENST00000368184.3	37	c.1398	CCDS1167.1	1																																																																																			FCRL3	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000160856		0.517	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	53	0	C	NM_052939		157665150	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.028	T	T	157665150	C	T	157665150	2	4	42	1	0	0	0	0	0	0	0	1	5818	796	28	3		3	FCRL3	1	157665150	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1613497	157665150	91585471	19	10187											
SFT2D2	375035	genome.wustl.edu	37	chr1	168205836	168205836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctttagttgtgttttGcacttaccctgtgttctgcc	3	20	7	11	0	2	0	0	0	2	0	3	0	3	0	3	0	3	4	3	0	2	8			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:168205836G>A	ENST00000271375.4	+	5	400	c.328G>A	c.(328-330)Gca>Aca	p.A110T	SFT2D2_ENST00000367829.1_Silent_p.L82L|SFT2D2_ENST00000367825.3_Silent_p.L82L|SFT2D2_ENST00000471981.1_3'UTR	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					GTTGTGTTTTGCACTTACCCT	0.323																																																	0													179	165	170					1																	168205836		2203	4300	6503	SO:0001583	missense	0			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.328G>A	1.37:g.168205836G>A	ENSP00000271375:p.Ala110Thr			Missense_Mutation	SNP	pfam_Vesicle_transpt_Got1/SFT2	p.A110T	ENST00000271375.4	37	c.328	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652708	0.67472	.	.	ENSG00000213064	ENST00000271375	T	0.43294	0.95	5.35	-1.24	0.09435	.	0.573596	0.17018	N	0.190227	T	0.13415	0.0325	L	0.46741	1.465	0.24171	N	0.995626	B	0.02656	0.0	B	0.08055	0.003	T	0.10870	-1.0611	9	0.39692	T	0.17	-14.3117	6.2188	0.20669	0.4527:0.1254:0.4219:0.0	.	110	O95562	SFT2B_HUMAN	T	110	ENSP00000271375:A110T	ENSP00000271375:A110T	A	+	1	0	SFT2D2	166472460	0.041000	0.20044	0.006000	0.13384	0.980000	0.70556	0.671000	0.25172	-0.232000	0.09811	0.650000	0.86243	GCA	SFT2D2	-	pfam_Vesicle_transpt_Got1/SFT2	ENSG00000213064		0.323	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFT2D2	HGNC	protein_coding	OTTHUMT00000083827.2		0	75	0	G	NM_199344		168205836	1			no_errors	ENST00000271375	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.005	A	A	168205836	G	A	168205836	3	1	42	1	0	0	0	0	1	0	0	0	14231	1319	46	3	346	3	SFT2D2	1	168205836	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	10540686	168205836	81044785	20	10188											
PRDX6	9588	genome.wustl.edu	37	chr1	173450517	173450517	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccccagtgtgcaccacaGagcttggcagagctgcaaag	11	7	11	12	0	0	2	0	0	0	2	0	2	0	2	3	1	5	5	3	1	2	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:173450517G>T	ENST00000340385.5	+	2	280	c.148G>T	c.(148-150)Gag>Tag	p.E50*	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	50	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GTGCACCACAGAGCTTGGCAG	0.473																																																	0													125	121	123					1																	173450517		2203	4300	6503	SO:0001587	stop_gained	0			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.148G>T	1.37:g.173450517G>T	ENSP00000342026:p.Glu50*		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Nonsense_Mutation	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.E50*	ENST00000340385.5	37	c.148	CCDS1307.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.637539	0.97726	.	.	ENSG00000117592	ENST00000340385	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-28.74	18.9171	0.92510	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000342026:E50X	E	+	1	0	PRDX6	171717140	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.015000	0.93640	2.838000	0.97847	0.655000	0.94253	GAG	PRDX6	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117592		0.473	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX6	HGNC	protein_coding	OTTHUMT00000084222.1		0	66	0	G	NM_004905		173450517	1			no_errors	ENST00000340385	ensembl	human	known	74_37	nonsense	7.35	63	5	SNP	1.000	T	T	173450517	G	T	173450517	4	4	42	1	0	0	0	0	0	1	0	0	12511	943	33	3	154	3	PRDX6	1	173450517	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	5244681	173450517	75800104	21	10189											
TNN	63923	genome.wustl.edu	37	chr1	175049324	175049324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccacagggcctgcagctGctcaagaacacggaggattc	11	5	11	14	1	1	1	1	0	0	1	2	3	1	3	3	3	4	3	3	3	2	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:175049324G>A	ENST00000239462.4	+	4	923	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	270	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGCAGCTGCTCAAGAACA	0.612																																																	0													49	52	51					1																	175049324		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.810G>A	1.37:g.175049324G>A			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.L270	ENST00000239462.4	37	c.810	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.612	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	42	0	G	XM_040527		175049324	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	silent	12.00	22	3	SNP	1.000	A	A	175049324	G	A	175049324	2	1	42	1	0	0	0	0	0	0	0	1	16370	1306	46	3		3	TNN	1	175049324	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	1598807	175049324	74201297	22	10190											
CACNA1E	777	genome.wustl.edu	37	chr1	181684509	181684509	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaaataaaaatgctGgaacatccgccttagaaggt	17	8	9	7	1	0	3	0	1	0	2	1	4	1	4	2	2	2	1	2	2	9	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:181684509G>T	ENST00000367573.2	+	9	1207	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.G403*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.G403*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.G10*|CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.G403*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.G354*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.G354*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	403					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TAAAAATGCTGGAACATCCGC	0.373																																																	0													55	53	54					1																	181684509		1849	4114	5963	SO:0001587	stop_gained	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1207G>T	1.37:g.181684509G>T	ENSP00000356545:p.Gly403*		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G403*	ENST00000367573.2	37	c.1207	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	48	13.924480	0.99770	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.0518	0.93050	0.0:0.0:1.0:0.0	.	.	.	.	X	403;403;403;354;354;10;403;403	.	ENSP00000350183:G354X	G	+	1	0	CACNA1E	179951132	1.000000	0.71417	0.306000	0.25113	0.913000	0.54294	8.662000	0.91130	2.673000	0.90976	0.650000	0.86243	GGA	CACNA1E	-	NULL	ENSG00000198216		0.373	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2		0	42	0	G	NM_000721		181684509	1			no_errors	ENST00000367573	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T	T	181684509	G	T	181684509	4	4	42	1	0	0	0	0	0	1	0	0	2549	1349	47	3	1241	3	CACNA1E	1	181684509	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	6635185	181684509	67566112	23	10191											
RGS8	85397	genome.wustl.edu	37	chr1	182636065	182636065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcactacacgagtctgActtgtgagacaggcatccca	13	8	9	11	1	2	2	1	2	1	1	3	5	3	2	1	1	1	1	1	1	2	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:182636065A>G	ENST00000483095.2	-	4	327	c.70T>C	c.(70-72)Tca>Cca	p.S24P	RGS8_ENST00000367557.4_Missense_Mutation_p.S24P|RGS8_ENST00000258302.4_Missense_Mutation_p.S42P|RGS8_ENST00000367556.1_Missense_Mutation_p.S24P|RGS8_ENST00000491420.2_5'UTR			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	24					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CACGAGTCTGACTTGTGAGAC	0.527																																					Ovarian(189;1262 3804 41973)												0													201	168	179					1																	182636065		2203	4300	6503	SO:0001583	missense	0			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.70T>C	1.37:g.182636065A>G	ENSP00000426289:p.Ser24Pro		B4DGL9|Q3SYD2	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S42P	ENST00000483095.2	37	c.124	CCDS41443.1	1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960821	0.34565	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.48522	0.81;0.83;0.81;0.81	5.45	5.45	0.79879	.	0.000000	0.20904	U	0.083581	T	0.34279	0.0892	L	0.31371	0.925	0.42644	D	0.993422	B;B	0.23735	0.09;0.037	B;B	0.25614	0.021;0.062	T	0.13124	-1.0521	10	0.08837	T	0.75	.	13.0432	0.58913	1.0:0.0:0.0:0.0	.	24;42	P57771;P57771-2	RGS8_HUMAN;.	P	24;42;24;24;24	ENSP00000426289:S24P;ENSP00000258302:S42P;ENSP00000356528:S24P;ENSP00000356527:S24P	ENSP00000258302:S42P	S	-	1	0	RGS8	180902688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.505000	0.66981	2.074000	0.62210	0.533000	0.62120	TCA	RGS8	-	NULL	ENSG00000135824		0.527	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RGS8	HGNC	protein_coding	OTTHUMT00000358979.1	-	0	29	0	A	NM_033345		182636065	-1	tier1	-	no_errors	ENST00000258302	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	G	G	182636065	A	G	182636065	3	3	42	1	0	0	0	0	1	0	0	0	13357	275	10	4	488	4	RGS8	1	182636065	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	951556	182636065	66614556	24	10192											
HMCN1	83872	genome.wustl.edu	37	chr1	185972897	185972897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaatgaagtctcagttGtcctcaaccgtgacgtcgcc	9	10	8	14	3	2	2	2	2	1	0	6	2	4	2	4	0	1	1	4	0	3	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:185972897G>T	ENST00000271588.4	+	29	4625	c.4396G>T	c.(4396-4398)Gtc>Ttc	p.V1466F	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1466F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1466	Ig-like C2-type 12.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTCTCAGTTGTCCTCAACCG	0.428																																																	0													170	146	154					1																	185972897		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4396G>T	1.37:g.185972897G>T	ENSP00000271588:p.Val1466Phe		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V1466F	ENST00000271588.4	37	c.4396	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321094	0.60634	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.86	-1.37	0.09056	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.578415	0.18826	N	0.130127	T	0.64735	0.2625	L	0.46885	1.475	0.40632	D	0.981861	D	0.62365	0.991	P	0.58172	0.834	T	0.62015	-0.6943	10	0.42905	T	0.14	.	5.5198	0.16925	0.591:0.1667:0.2423:0.0	.	1466	Q96RW7	HMCN1_HUMAN	F	1466	ENSP00000271588:V1466F;ENSP00000356462:V1466F	ENSP00000271588:V1466F	V	+	1	0	HMCN1	184239520	0.678000	0.27586	0.707000	0.30419	0.685000	0.39939	0.897000	0.28390	-0.100000	0.12241	-0.145000	0.13849	GTC	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	71	0	G	NM_031935		185972897	1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.970	T	T	185972897	G	T	185972897	3	4	42	1	0	0	0	0	1	0	0	0	7247	1377	48	3	4510	3	HMCN1	1	185972897	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3336832	185972897	63277724	25	10193											
ZC3H11A	9877	genome.wustl.edu	37	chr1	203799261	203799261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttcaggtgaatgtttGaattttggaataaaaactct	14	16	8	3	0	2	2	1	2	1	0	2	4	2	3	0	2	1	1	0	2	7	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:203799261G>T	ENST00000545588.1	+	7	4457	c.630G>T	c.(628-630)ttG>ttT	p.L210F	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L210F|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L210F|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L210F|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L210F	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	210					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGAATGTTTGAATTTTGGAA	0.308																																																	0													41	48	46					1																	203799261		2202	4297	6499	SO:0001583	missense	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"Zinc fingers, CCCH-type domain containing"	29093	protein-coding gene	gene with protein product		613513	"zinc finger CCCH-type domain containing 11A"	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.630G>T	1.37:g.203799261G>T	ENSP00000438527:p.Leu210Phe		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	smart_Znf_CCCH	p.L210F	ENST00000545588.1	37	c.630	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.780709	0.70222	.	.	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.59	3.73	0.42828	.	0.067185	0.64402	D	0.000008	T	0.69115	0.3075	M	0.72894	2.215	0.53688	D	0.999971	D	0.64830	0.994	P	0.62435	0.902	T	0.68318	-0.5440	10	0.45353	T	0.12	-8.3771	10.1638	0.42868	0.1437:0.0:0.8563:0.0	.	210	O75152	ZC11A_HUMAN	F	210;210;156;210;210;210;210	ENSP00000356183:L210F;ENSP00000356181:L210F;ENSP00000333253:L210F;ENSP00000438527:L210F;ENSP00000356179:L210F	ENSP00000333253:L210F	L	+	3	2	ZC3H11A	202065884	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.803000	0.47924	0.840000	0.34995	0.585000	0.79938	TTG	ZC3H11A	-	NULL	ENSG00000058673		0.308	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	-	0	84	0	G	NM_014827		203799261	1	tier1	-	no_errors	ENST00000332127	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	T	T	203799261	G	T	203799261	3	4	42	1	0	0	0	0	1	0	0	0	17608	1281	45	3	652	3	ZC3H11A	1	203799261	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	17826364	203799261	45451360	26	10194											
RD3	343035	genome.wustl.edu	37	chr1	211652558	211652558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactggcgcgtcagcttGtgggcctcctcttcctgctt	2	13	10	16	2	2	0	1	0	1	0	5	0	5	0	4	2	2	2	4	2	0	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:211652558G>T	ENST00000367002.4	-	3	1571	c.408C>A	c.(406-408)caC>caA	p.H136Q	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	136					response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCGTCAGCTTGTGGGCCTCCT	0.682																																																	0													23	22	23					1																	211652558		2201	4299	6500	SO:0001583	missense	0			AY191519	CCDS1498.1	1q32.3	2008-02-05	2006-11-13	2006-11-13	ENSG00000198570	ENSG00000198570			19689	protein-coding gene	gene with protein product		180040	"chromosome 1 open reading frame 36"	C1orf36		12914764	Standard	NM_183059		Approved	LCA12	uc001hin.2	Q7Z3Z2	OTTHUMG00000037002	ENST00000367002.4:c.408C>A	1.37:g.211652558G>T	ENSP00000355969:p.His136Gln		A8K595	Missense_Mutation	SNP	NULL	p.H136Q	ENST00000367002.4	37	c.408	CCDS1498.1	1	.	.	.	.	.	.	.	.	.	.	G	2.243	-0.373257	0.05034	.	.	ENSG00000198570	ENST00000367002	T	0.08282	3.11	4.33	-4.31	0.03698	.	0.489617	0.23369	N	0.048933	T	0.01387	0.0045	N	0.01188	-0.97	0.24988	N	0.991554	B	0.02656	0.0	B	0.04013	0.001	T	0.36672	-0.9738	10	0.05620	T	0.96	-16.4574	0.6897	0.00889	0.2871:0.2758:0.2593:0.1778	.	136	Q7Z3Z2	RD3_HUMAN	Q	136	ENSP00000355969:H136Q	ENSP00000355969:H136Q	H	-	3	2	RD3	209719181	0.994000	0.37717	0.607000	0.28956	0.740000	0.42216	0.225000	0.17757	-0.486000	0.06744	-0.263000	0.10527	CAC	RD3	-	NULL	ENSG00000198570		0.682	RD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RD3	HGNC	protein_coding	OTTHUMT00000089837.1		0	58	0	G	NM_183059		211652558	-1			no_errors	ENST00000367002	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.995	T	T	211652558	G	T	211652558	3	4	42	1	0	0	0	0	1	0	0	0	13232	1368	48	3	183	3	RD3	1	211652558	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	7853297	211652558	37598063	27	10195											
RYR2	6262	genome.wustl.edu	37	chr1	237758827	237758827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaactgctatatggtatGtgcgggtgagagcatgagcc	10	9	14	8	1	0	2	0	2	0	1	0	3	0	2	1	2	6	4	1	2	4	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:237758827G>A	ENST00000366574.2	+	34	4783	c.4466G>A	c.(4465-4467)tGt>tAt	p.C1489Y	RYR2_ENST00000542537.1_Missense_Mutation_p.C1473Y|RYR2_ENST00000360064.6_Missense_Mutation_p.C1487Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1489	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATATGGTATGTGCGGGTGAG	0.463																																																	0													86	90	89					1																	237758827		2059	4189	6248	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4466G>A	1.37:g.237758827G>A	ENSP00000355533:p.Cys1489Tyr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.C1487Y	ENST00000366574.2	37	c.4460	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930870	0.73327	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68479	-0.33;-0.33;-0.33	5.52	5.52	0.82312	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.074252	0.56097	D	0.000031	T	0.65228	0.2671	L	0.50333	1.59	0.80722	D	1	B	0.33198	0.401	B	0.33846	0.171	T	0.65619	-0.6124	10	0.51188	T	0.08	.	19.4398	0.94813	0.0:0.0:1.0:0.0	.	1489	Q92736	RYR2_HUMAN	Y	1489;1487;1473	ENSP00000355533:C1489Y;ENSP00000353174:C1487Y;ENSP00000443798:C1473Y	ENSP00000353174:C1487Y	C	+	2	0	RYR2	235825450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.598000	0.87819	0.655000	0.94253	TGT	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	62	0	G	NM_001035		237758827	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	A	A	237758827	G	A	237758827	3	1	42	1	0	0	0	0	1	0	0	0	13814	1377	48	3	4600	3	RYR2	1	237758827	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	26106269	237758827	11491794	28	10196											
FMN2	56776	genome.wustl.edu	37	chr1	240371521	240371521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctccccctcttcccGgagcgggcatacctcctcca	4	8	6	23	2	1	0	0	0	1	0	6	1	6	1	9	2	2	1	9	2	1	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:240371521G>A	ENST00000319653.9	+	5	3639	c.3409G>A	c.(3409-3411)Gga>Aga	p.G1137R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1137	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTTCCCGGAGCGGGCAT	0.716																																																	0													6	8	7					1																	240371521		2069	4066	6135	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3409G>A	1.37:g.240371521G>A	ENSP00000318884:p.Gly1137Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G1137R	ENST00000319653.9	37	c.3409	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	g	5.766	0.325803	0.10900	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.28	1.35	0.21983	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.398052	0.18116	U	0.151198	T	0.69196	0.3084	M	0.80332	2.49	0.09310	N	1	D	0.59357	0.985	P	0.49683	0.619	T	0.61123	-0.7126	9	.	.	.	.	5.6701	0.17717	0.2633:0.0:0.7367:0.0	.	1137	Q9NZ56	FMN2_HUMAN	R	1137	ENSP00000318884:G1137R	.	G	+	1	0	FMN2	238438144	0.049000	0.20398	0.001000	0.08648	0.002000	0.02628	1.607000	0.36836	0.225000	0.20959	0.471000	0.43371	GGA	FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.716	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	56	0	G	XM_371352		240371521	1			no_errors	ENST00000319653	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.001	A	A	240371521	G	A	240371521	3	1	42	1	0	0	0	0	1	0	0	0	5972	1117	39	1	3427	1	FMN2	1	240371521	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	2612694	240371521	8879100	29	10197											
RGS7	6000	genome.wustl.edu	37	chr1	240939498	240939498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcttgttaacctcttggAcgtgagagatttcccctgag	9	12	11	9	1	1	3	0	2	1	1	2	5	2	4	3	2	1	2	3	2	2	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr1:240939498A>T	ENST00000366565.1	-	18	1810	c.1429T>A	c.(1429-1431)Tcc>Acc	p.S477T	RGS7_ENST00000331110.7_Intron|RGS7_ENST00000446183.2_3'UTR|RGS7_ENST00000366563.1_3'UTR|RGS7_ENST00000366564.1_Missense_Mutation_p.S459T|RGS7_ENST00000348120.2_3'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.S459T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	0					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AACCTCTTGGACGTGAGAGAT	0.388																																																	0													114	103	107					1																	240939498		2203	4300	6503	SO:0001583	missense	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"Regulators of G-protein signaling"	10003	protein-coding gene	gene with protein product		602517	"regulator of G-protein signalling 7"			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000366565.1:c.1429T>A	1.37:g.240939498A>T	ENSP00000355523:p.Ser477Thr		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,prints_RGS_dom,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam	p.S477T	ENST00000366565.1	37	c.1429	CCDS31071.1	1	.	.	.	.	.	.	.	.	.	.	A	9.029	0.986903	0.18889	.	.	ENSG00000182901	ENST00000366565;ENST00000366564;ENST00000366562	T;T;T	0.32515	1.45;1.55;1.55	5.35	5.35	0.76521	.	1.243150	0.05228	N	0.509856	T	0.22126	0.0533	.	.	.	0.80722	D	1	B;B	0.32467	0.001;0.372	B;B	0.30316	0.005;0.114	T	0.02837	-1.1104	9	0.11182	T	0.66	.	13.0756	0.59085	1.0:0.0:0.0:0.0	.	459;477	P49802-2;P49802-5	.;.	T	477;459;459	ENSP00000355523:S477T;ENSP00000355522:S459T;ENSP00000355520:S459T	ENSP00000355520:S459T	S	-	1	0	RGS7	239006121	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.046000	0.71029	2.039000	0.60335	0.397000	0.26171	TCC	RGS7	-	NULL	ENSG00000182901		0.388	RGS7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS7	HGNC	protein_coding	OTTHUMT00000096719.3	-	0	39	0	A	NM_002924		240939498	-1	tier1	-	no_errors	ENST00000366565	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T	T	240939498	A	T	240939498	3	4	42	1	0	0	0	0	1	0	0	0	13355	275	10	5	38	5	RGS7	1	240939498	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	567977	240939498	8311123	30	10198											
SNTG2	54221	genome.wustl.edu	37	chr2	1079214	1079214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctacagacgaaaaccaCtattgctctgttgtatgatg	11	12	8	10	1	1	2	0	1	1	1	2	3	2	2	2	0	3	3	2	0	5	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:1079214C>A	ENST00000308624.5	+	2	212	c.83C>A	c.(82-84)aCt>aAt	p.T28N	SNTG2_ENST00000407292.1_Missense_Mutation_p.T28N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	28					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACGAAAACCACTATTGCTCTG	0.483																																																	0													120	120	120					2																	1079214		2025	4177	6202	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.83C>A	2.37:g.1079214C>A	ENSP00000311837:p.Thr28Asn		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T28N	ENST00000308624.5	37	c.83	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887986	0.33348	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69926	1.17;-0.44	3.78	2.89	0.33648	.	0.247105	0.40302	N	0.001129	T	0.45637	0.1352	N	0.08118	0	0.21652	N	0.9996	B;B	0.19817	0.039;0.023	B;B	0.18561	0.022;0.014	T	0.45512	-0.9256	10	0.87932	D	0	.	11.6898	0.51508	0.0:0.2451:0.7549:0.0	.	28;28	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	28	ENSP00000311837:T28N;ENSP00000385020:T28N	ENSP00000311837:T28N	T	+	2	0	SNTG2	1069214	1.000000	0.71417	0.001000	0.08648	0.001000	0.01503	5.933000	0.70130	0.556000	0.29098	0.591000	0.81541	ACT	SNTG2	-	NULL	ENSG00000172554		0.483	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	76	0	C	NM_018968		1079214	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.711	A	A	1079214	C	A	1079214	3	1	42	1	0	0	0	0	1	0	0	0	14920	565	20	3	89	3	SNTG2	2	1079214	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09		1079214	242120159	31	10199											
OTOF	9381	genome.wustl.edu	37	chr2	26741909	26741909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgttgtcatcaatcagcGtgtcagtcacctccacatgg	9	12	8	12	1	5	0	5	0	0	0	6	0	6	0	2	1	1	1	2	1	1	2	rs555829802		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:26741909G>T	ENST00000272371.2	-	4	422	c.296C>A	c.(295-297)aCg>aAg	p.T99K	OTOF_ENST00000403946.3_Missense_Mutation_p.T99K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	99					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.T99M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAATCAGCGTGTCAGTCAC	0.577																																					GBM(102;732 1451 20652 24062 31372)												1	Substitution - Missense(1)	lung(1)											148	108	121					2																	26741909		2203	4300	6503	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.296C>A	2.37:g.26741909G>T	ENSP00000272371:p.Thr99Lys		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T99K	ENST00000272371.2	37	c.296	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266430	0.80358	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.71341	-0.56;-0.56	5.05	4.18	0.49190	C2 calcium/lipid-binding domain, CaLB (1);	0.050741	0.85682	D	0.000000	T	0.64778	0.2629	M	0.62723	1.935	0.53005	D	0.99996	B	0.32653	0.379	B	0.26202	0.067	T	0.66093	-0.6009	10	0.52906	T	0.07	-12.4287	11.8556	0.52435	0.0861:0.0:0.9139:0.0	.	99	Q9HC10	OTOF_HUMAN	K	99	ENSP00000272371:T99K;ENSP00000385255:T99K	ENSP00000272371:T99K	T	-	2	0	OTOF	26595413	1.000000	0.71417	0.973000	0.42090	0.985000	0.73830	6.844000	0.75390	1.262000	0.44165	0.563000	0.77884	ACG	OTOF	-	superfamily_C2_dom	ENSG00000115155		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	24	0	G			26741909	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.998	T	T	26741909	G	T	26741909	3	4	42	1	0	0	0	0	1	0	0	0	11342	1145	40	2	6198	2	OTOF	2	26741909	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	25662695	26741909	216457464	32	10200											
CLIP4	79745	genome.wustl.edu	37	chr2	29356672	29356672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtgattttgaaaacatcGaaaccaaaaggcaagtatta	19	9	8	5	1	0	3	0	2	0	1	1	4	0	3	1	1	2	2	1	1	8	4	rs150045383		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:29356672G>A	ENST00000320081.5	+	5	774	c.519G>A	c.(517-519)tcG>tcA	p.S173S	CLIP4_ENST00000401617.2_Silent_p.S66S|CLIP4_ENST00000404424.1_Silent_p.S173S|CLIP4_ENST00000401605.1_Silent_p.S173S	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	173								p.S173S(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAAACATCGAAACCAAAAG	0.328																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405		0,1,2202	94	90	91		519	-10.6	0.8	2	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	CLIP4	NM_024692.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		173/706	29356672	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.519G>A	2.37:g.29356672G>A			A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.S173	ENST00000320081.5	37	c.519	CCDS1770.1	2																																																																																			CLIP4	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115295		0.328	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP4	HGNC	protein_coding	OTTHUMT00000215123.2	-	0	83	0	G	NM_024692		29356672	1	tier1	rs150045383	no_errors	ENST00000320081	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.216	A	A	29356672	G	A	29356672	2	1	42	1	0	0	0	0	0	0	0	1	3542	1045	37	1		1	CLIP4	2	29356672	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	2614763	29356672	213842701	33	10201											
NRXN1	9378	genome.wustl.edu	37	chr2	51149818	51149818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgcccatcatcaggtgCgccagaccttgaagggaaac	10	7	12	12	2	2	2	2	1	0	1	3	3	2	3	3	3	2	0	3	3	2	1	rs201027928		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:51149818C>T	ENST00000406316.2	-	4	2274	c.798G>A	c.(796-798)gcG>gcA	p.A266A	NRXN1_ENST00000401669.2_Silent_p.A266A|NRXN1_ENST00000402717.3_Silent_p.A266A|NRXN1_ENST00000404971.1_Silent_p.A299A|NRXN1_ENST00000405472.3_Silent_p.A266A|NRXN1_ENST00000405581.1_Silent_p.A266A|NRXN1_ENST00000406859.3_Silent_p.A266A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	266					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.A300A(1)|p.A299A(1)|p.A266A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCATCAGGTGCGCCAGACCTT	0.483																																																	3	Substitution - coding silent(3)	endometrium(3)						C	,	2,4106		0,2,2052	79	78	78		897,798	4.3	1	2		78	0,8352		0,0,4176	no	coding-synonymous,coding-synonymous	NRXN1	NM_001135659.1,NM_004801.4	,	0,2,6228	TT,TC,CC		0.0,0.0487,0.0161	,	299/1548,266/1478	51149818	2,12458	2054	4176	6230	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.798G>A	2.37:g.51149818C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A266	ENST00000406316.2	37	c.798	CCDS54360.1	2																																																																																			NRXN1	-	NULL	ENSG00000179915		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2		0	42	0	C			51149818	-1			no_errors	ENST00000402717	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	T	T	51149818	C	T	51149818	2	4	42	1	0	0	0	0	0	0	0	1	10704	755	27	1		1	NRXN1	2	51149818	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	21793146	51149818	192049555	34	10202											
DCTN1	1639	genome.wustl.edu	37	chr2	74596337	74596337	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtcagttcccgattcAcatcctaggaggagagacag	10	10	12	9	1	2	1	2	0	0	1	4	5	4	3	2	3	0	2	2	3	1	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:74596337A>T	ENST00000361874.3	-	15	1906	c.1589T>A	c.(1588-1590)gTg>gAg	p.V530E	DCTN1_ENST00000394003.3_Missense_Mutation_p.V523E|DCTN1_ENST00000409240.1_Missense_Mutation_p.V493E|DCTN1_ENST00000409868.1_Missense_Mutation_p.V513E|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409438.1_Missense_Mutation_p.V396E|DCTN1_ENST00000409567.3_Missense_Mutation_p.V510E|DCTN1_ENST00000407639.2_Missense_Mutation_p.V396E	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	530					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TTCCCGATTCACATCCTAGGA	0.522																																																	0													138	129	132					2																	74596337		2203	4300	6503	SO:0001583	missense	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1589T>A	2.37:g.74596337A>T	ENSP00000354791:p.Val530Glu		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.V530E	ENST00000361874.3	37	c.1589	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	A	11.98	1.799918	0.31869	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.38	5.38	0.77491	.	0.000000	0.39083	N	0.001478	D	0.84973	0.5591	L	0.57536	1.79	0.80722	D	1	P;B;D;B;B;D	0.63046	0.673;0.044;0.992;0.001;0.004;0.99	B;B;P;B;B;P	0.59221	0.396;0.048;0.854;0.003;0.017;0.772	T	0.81885	-0.0727	10	0.02654	T	1	-10.6772	14.5192	0.67840	1.0:0.0:0.0:0.0	.	510;493;530;523;396;396	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	E	530;523;513;396;396;493;513;510	ENSP00000354791:V530E;ENSP00000377571:V523E;ENSP00000384844:V396E;ENSP00000387270:V396E;ENSP00000386406:V493E;ENSP00000387327:V513E;ENSP00000386843:V510E	ENSP00000354791:V530E	V	-	2	0	DCTN1	74449845	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.090000	0.57693	2.254000	0.74563	0.533000	0.62120	GTG	DCTN1	-	pfam_Dynactin,superfamily_P-loop_NTPase	ENSG00000204843		0.522	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3		0	75	0	A	NM_004082		74596337	-1			no_errors	ENST00000361874	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	T	T	74596337	A	T	74596337	3	4	42	1	0	0	0	0	1	0	0	0	4315	159	6	5	2319	5	DCTN1	2	74596337	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	23446519	74596337	168603036	35	10203											
C2orf3	6936	genome.wustl.edu	37	chr2	75915055	75915055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacactgctatccataaattCttctacagatttgaaccatg	13	13	4	11	0	2	2	0	1	2	1	3	2	3	2	2	0	3	1	2	0	5	6	rs370757430		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:75915055C>T	ENST00000321027.3	-	11	1721	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.E492K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	530					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										TCCATAAATTCTTCTACAGAT	0.318																																																	0													61	64	63					2																	75915055		2203	4298	6501	SO:0001583	missense	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1588G>A	2.37:g.75915055C>T	ENSP00000318690:p.Glu530Lys		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	pfam_GCFC_dom	p.E530K	ENST00000321027.3	37	c.1588	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701131	0.30142	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	T;T	0.41400	1.0;1.0	5.7	2.92	0.33932	GC-rich sequence DNA-binding factor domain (1);	0.272266	0.42548	N	0.000695	T	0.28632	0.0709	L	0.41824	1.3	0.80722	D	1	B	0.18013	0.025	B	0.20184	0.028	T	0.07888	-1.0749	10	0.06757	T	0.87	-10.4182	10.0096	0.41979	0.0:0.7748:0.0:0.2252	.	530	P16383	GCF_HUMAN	K	530;492	ENSP00000318690:E530K;ENSP00000386552:E492K	ENSP00000318690:E530K	E	-	1	0	C2orf3	75768563	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	1.121000	0.31283	0.430000	0.26230	0.655000	0.94253	GAA	GCFC2	-	pfam_GCFC_dom	ENSG00000005436		0.318	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	-	0	83	0	C	NM_003203		75915055	-1	tier1	-	no_errors	ENST00000321027	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	75915055	C	T	75915055	3	4	42	1	0	0	0	0	1	0	0	0	2169	922	32	3	785	3	C2orf3	2	75915055	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1318718	75915055	167284318	36	10204											
INPP4A	3631	genome.wustl.edu	37	chr2	99154342	99154342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtctgcagagagtgacCgtgtaggtaacatcaccgtg	11	8	13	9	2	2	2	1	1	1	1	2	3	2	2	2	2	2	3	2	2	2	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:99154342C>T	ENST00000523221.1	+	6	484	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000074304.5_Missense_Mutation_p.R162C|INPP4A_ENST00000409851.3_Missense_Mutation_p.R162C|INPP4A_ENST00000545415.1_Missense_Mutation_p.R162C|INPP4A_ENST00000409016.4_Missense_Mutation_p.R162C|INPP4A_ENST00000409540.3_Missense_Mutation_p.R162C			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	162					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.R162C(3)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAGAGTGACCGTGTAGGTAA	0.532																																																	3	Substitution - Missense(3)	endometrium(3)											72	79	77					2																	99154342		2090	4225	6315	SO:0001583	missense	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.484C>T	2.37:g.99154342C>T	ENSP00000427722:p.Arg162Cys		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_dom	p.R162C	ENST00000523221.1	37	c.484	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609179	0.87258	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.59	4.71	0.59529	.	0.053537	0.85682	D	0.000000	T	0.40322	0.1112	L	0.36672	1.1	0.58432	D	0.999999	D;D;D;D	0.71674	0.994;0.998;0.998;0.998	P;P;P;P	0.56474	0.629;0.795;0.799;0.799	T	0.29150	-1.0021	10	0.59425	D	0.04	-15.2901	15.5476	0.76118	0.0:0.8616:0.1384:0.0	.	162;162;162;162	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	C	162	ENSP00000386704:R162C;ENSP00000386777:R162C;ENSP00000074304:R162C;ENSP00000442149:R162C;ENSP00000387294:R162C;ENSP00000427722:R162C	ENSP00000074304:R162C	R	+	1	0	INPP4A	98520774	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	3.812000	0.55628	1.324000	0.45282	0.655000	0.94253	CGT	INPP4A	-	NULL	ENSG00000040933		0.532	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1		0	53	0	C	NM_001566		99154342	1			no_errors	ENST00000074304	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	99154342	C	T	99154342	3	4	42	1	0	0	0	0	1	0	0	0	7779	652	23	1	506	1	INPP4A	2	99154342	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	23239287	99154342	144045031	37	10205											
MAP4K4	9448	genome.wustl.edu	37	chr2	102483020	102483020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtctcagagtggctccGgggaacgcttcagagtgaga	8	8	16	9	2	2	3	2	1	1	3	4	5	3	4	1	4	1	2	1	4	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:102483020G>T	ENST00000347699.4	+	18	2101	c.2101G>T	c.(2101-2103)Ggg>Tgg	p.G701W	MAP4K4_ENST00000350198.4_Missense_Mutation_p.G617W|MAP4K4_ENST00000350878.4_Missense_Mutation_p.G674W|MAP4K4_ENST00000425019.1_Missense_Mutation_p.G670W|MAP4K4_ENST00000324219.4_Missense_Mutation_p.G779W|MAP4K4_ENST00000456652.1_Missense_Mutation_p.G500W|MAP4K4_ENST00000413150.2_Missense_Mutation_p.G616W|MAP4K4_ENST00000302217.5_Missense_Mutation_p.G501W	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	701					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GAGTGGCTCCGGGGAACGCTT	0.537																																																	0													63	70	68					2																	102483020		1937	4142	6079	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2101G>T	2.37:g.102483020G>T	ENSP00000314363:p.Gly701Trp		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.G779W	ENST00000347699.4	37	c.2335	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.471275|4.471275	0.84533|0.84533	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T;T;T|.	0.12774|.	2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65;2.65|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.116455|.	0.56097|.	D|.	0.000022|.	T|T	0.73791|0.73791	0.3632|0.3632	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.993;0.981;0.99;0.981;0.992;1.0;0.999;0.992;0.997;1.0|.	T|T	0.69621|0.69621	-0.5096|-0.5096	10|5	0.37606|.	T|.	0.19|.	.|.	20.063|20.063	0.97692|0.97692	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	674;694;500;501;616;701;670;617;670;779|.	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	W|L	670;779;617;501;616;500;701;632;674|517	ENSP00000392830:G670W;ENSP00000313644:G779W;ENSP00000281111:G617W;ENSP00000303600:G501W;ENSP00000389752:G616W;ENSP00000387370:G500W;ENSP00000314363:G701W;ENSP00000409720:G632W;ENSP00000343658:G674W|.	ENSP00000303600:G501W|.	G|R	+|+	1|2	0|0	MAP4K4|MAP4K4	101849452|101849452	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.992000|0.992000	0.81027|0.81027	6.318000|6.318000	0.72866|0.72866	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GGG|CGG	MAP4K4	-	NULL	ENSG00000071054		0.537	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	-	0	40	0	G	NM_004834		102483020	1	tier1	-	no_errors	ENST00000324219	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	102483020	G	T	102483020	3	4	42	1	0	0	0	0	1	0	0	0	9300	1116	39	2	2409	2	MAP4K4	2	102483020	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3328678	102483020	140716353	38	10206											
POTEE	445582	genome.wustl.edu	37	chr2	132010593	132010593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctggcaatggtgatGatggattaattcctccaagg	10	11	11	9	0	0	2	0	2	0	0	2	3	2	3	3	4	1	2	3	4	3	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:132010593G>T	ENST00000356920.5	+	13	1793	c.1699G>T	c.(1699-1701)Gat>Tat	p.D567Y	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	567					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CAATGGTGATGATGGATTAAT	0.433																																																	0													8	10	10					2																	132010593		1459	3052	4511	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1699G>T	2.37:g.132010593G>T	ENSP00000439189:p.Asp567Tyr		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.D567Y	ENST00000356920.5	37	c.1699	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	9.428	1.084743	0.20309	.	.	ENSG00000188219	ENST00000356920	D	0.83506	-1.73	0.714	-0.315	0.12746	.	.	.	.	.	T	0.77519	0.4142	N	0.17082	0.46	0.09310	N	1	D	0.59357	0.985	P	0.56823	0.807	T	0.66712	-0.5854	8	0.87932	D	0	.	.	.	.	.	567	Q6S8J3	POTEE_HUMAN	Y	567	ENSP00000439189:D567Y	ENSP00000439189:D567Y	D	+	1	0	AC131180.1	131727063	0.022000	0.18835	0.006000	0.13384	0.103000	0.19146	-0.683000	0.05179	-0.147000	0.11254	0.184000	0.17185	GAT	POTEE	-	NULL	ENSG00000188219		0.433	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding			0	266	0	G	NM_001083538		132010593	1			no_errors	ENST00000356920	ensembl	human	known	74_37	missense	5.39	281	16	SNP	0.008	T	T	132010593	G	T	132010593	3	4	42	1	0	0	0	0	1	0	0	0	12303	1290	45	3	1749	3	POTEE	2	132010593	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	29527573	132010593	111188780	39	10207											
GPD2	2820	genome.wustl.edu	37	chr2	157436298	157436298	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaactcaatgaatttttgCaggtgagttgtggtgaaagg	11	14	13	3	0	1	4	1	4	0	0	1	4	1	4	0	3	2	2	0	3	4	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:157436298C>T	ENST00000310454.6	+	16	2428	c.2056C>T	c.(2056-2058)Cag>Tag	p.Q686*	GPD2_ENST00000409125.4_Nonsense_Mutation_p.Q459*|GPD2_ENST00000496190.1_3'UTR|GPD2_ENST00000409674.1_Nonsense_Mutation_p.Q686*|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000438166.2_Nonsense_Mutation_p.Q686*	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	686	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGAATTTTTGCAGGTGAGTTG	0.313																																																	0													58	60	59					2																	157436298		2202	4300	6502	SO:0001587	stop_gained	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.2056C>T	2.37:g.157436298C>T	ENSP00000308610:p.Gln686*		A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Nonsense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.Q686*	ENST00000310454.6	37	c.2056	CCDS2202.1	2	.	.	.	.	.	.	.	.	.	.	C	44	10.746995	0.99460	.	.	ENSG00000115159	ENST00000310454;ENST00000409125;ENST00000438166;ENST00000409674	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	X	686;459;686;686	.	ENSP00000308610:Q686X	Q	+	1	0	GPD2	157144544	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.900000	0.69853	2.890000	0.99128	0.585000	0.79938	CAG	GPD2	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000115159		0.313	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	-	0	69	0	C			157436298	1	tier1	-	no_errors	ENST00000310454	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	157436298	C	T	157436298	4	4	42	1	0	0	0	0	0	1	0	0	6632	711	25	3	2114	3	GPD2	2	157436298	Nonsense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	25425705	157436298	85763075	40	10208											
LY75	4065	genome.wustl.edu	37	chr2	160706507	160706507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattttctggtattctcAgcctcccactaaccaataat	11	15	3	12	0	2	0	1	0	2	0	4	0	3	0	3	1	3	1	3	1	5	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:160706507A>G	ENST00000263636.4	-	23	3161	c.3134T>C	c.(3133-3135)cTg>cCg	p.L1045P	LY75_ENST00000554112.1_Missense_Mutation_p.L1045P|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.L1045P|LY75_ENST00000553424.1_Missense_Mutation_p.L1045P|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.L1045P	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1045	C-type lectin 6. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGGTATTCTCAGCCTCCCACT	0.373																																																	0													151	146	148					2																	160706507		2203	4300	6503	SO:0001583	missense	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3134T>C	2.37:g.160706507A>G	ENSP00000263636:p.Leu1045Pro		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.L1045P	ENST00000263636.4	37	c.3134	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	A	0.997	-0.692279	0.03303	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.09817	2.96;2.96;2.94;2.96;2.96	5.11	2.49	0.30216	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.933360	0.08580	U	0.924626	T	0.17365	0.0417	M	0.62723	1.935	0.21147	N	0.999775	B;B;D	0.53151	0.134;0.03;0.958	B;B;P	0.51229	0.027;0.033;0.663	T	0.17258	-1.0375	10	0.34782	T	0.22	-0.4599	4.6088	0.12391	0.4652:0.3058:0.0:0.229	.	1045;1045;1045	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	P	1045	ENSP00000451511:L1045P;ENSP00000451446:L1045P;ENSP00000263636:L1045P;ENSP00000423463:L1045P;ENSP00000421035:L1045P	ENSP00000423463:L1045P	L	-	2	0	LY75;LY75-CD302	160414753	0.005000	0.15991	0.004000	0.12327	0.274000	0.26718	1.794000	0.38774	0.771000	0.33359	0.482000	0.46254	CTG	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.373	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	62	0	A			160706507	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	G	G	160706507	A	G	160706507	3	3	42	1	0	0	0	0	1	0	0	0	9135	188	7	4	2086	4	LY75	2	160706507	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	3270209	160706507	82492866	41	10209											
FAP	2191	genome.wustl.edu	37	chr2	163083065	163083065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaaatgttttataaGaaaatgttccatttaaaata	19	15	5	2	0	0	1	0	0	0	1	1	2	1	2	1	1	0	2	1	1	10	8			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:163083065G>T	ENST00000188790.4	-	3	365	c.158C>A	c.(157-159)tCt>tAt	p.S53Y	FAP_ENST00000443424.1_Missense_Mutation_p.S53Y	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.S53F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TGTTTTATAAGAAAATGTTCC	0.289																																																	1	Substitution - Missense(1)	prostate(1)											48	52	50					2																	163083065		2202	4291	6493	SO:0001583	missense	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.158C>A	2.37:g.163083065G>T	ENSP00000188790:p.Ser53Tyr			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S53Y	ENST00000188790.4	37	c.158	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389594	0.25118	.	.	ENSG00000078098	ENST00000188790;ENST00000443424;ENST00000447386	D;T	0.96073	-3.9;1.48	5.14	1.85	0.25348	.	0.744663	0.13191	N	0.406734	D	0.87787	0.6265	L	0.35723	1.085	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.14023	0.0;0.01	T	0.72944	-0.4138	10	0.02654	T	1	-3.0E-4	1.2991	0.02076	0.1867:0.1306:0.4376:0.2451	.	53;53	B4DLR2;Q12884	.;SEPR_HUMAN	Y	53;53;32	ENSP00000188790:S53Y;ENSP00000411391:S53Y	ENSP00000188790:S53Y	S	-	2	0	FAP	162791311	0.970000	0.33590	0.970000	0.41538	0.992000	0.81027	1.477000	0.35431	0.684000	0.31448	0.585000	0.79938	TCT	FAP	-	NULL	ENSG00000078098		0.289	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2		0	39	0	G			163083065	-1			no_errors	ENST00000188790	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.122	T	T	163083065	G	T	163083065	3	4	42	1	0	0	0	0	1	0	0	0	5695	942	33	3	2220	3	FAP	2	163083065	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	2376558	163083065	80116308	42	10210											
NEUROD1	4760	genome.wustl.edu	37	chr2	182543465	182543465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcatggtttcgaggtcGtcctccttcttgtctgcctc	2	16	10	13	3	3	0	1	0	2	0	8	1	5	0	3	2	1	2	3	2	0	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:182543465G>A	ENST00000295108.3	-	2	580	c.123C>T	c.(121-123)gaC>gaT	p.D41D	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	41					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTCGAGGTCGTCCTCCTTCT	0.592																																																	0													123	95	105					2																	182543465		2203	4300	6503	SO:0001819	synonymous_variant	0			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.123C>T	2.37:g.182543465G>A			B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.D41	ENST00000295108.3	37	c.123	CCDS2283.1	2																																																																																			NEUROD1	-	pirsf_TF_bHLH_NeuroD	ENSG00000162992		0.592	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	-	0	83	0	G	NM_002500		182543465	-1	tier1	-	no_errors	ENST00000295108	ensembl	human	known	74_37	silent	5.49	86	5	SNP	0.996	A	A	182543465	G	A	182543465	2	1	42	1	0	0	0	0	0	0	0	1	10387	1136	40	1		1	NEUROD1	2	182543465	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	19460400	182543465	60655908	43	10211											
FRZB	2487	genome.wustl.edu	37	chr2	183731088	183731088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgatggccaggatggCgttggcctgagtgctgtggt	4	11	17	9	2	0	1	0	1	0	0	1	3	0	2	2	5	2	3	2	5	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:183731088C>T	ENST00000295113.4	-	1	802	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	65	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GCCAGGATGGCGTTGGCCTGA	0.622																																																	0													110	89	96					2																	183731088		2203	4300	6503	SO:0001583	missense	0			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.193G>A	2.37:g.183731088C>T	ENSP00000295113:p.Ala65Thr		O00181|Q99686	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.A65T	ENST00000295113.4	37	c.193	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.348430	0.95807	.	.	ENSG00000162998	ENST00000295113	T	0.81415	-1.49	4.91	4.91	0.64330	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.91382	0.7281	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92746	0.6212	10	0.66056	D	0.02	.	18.2762	0.90084	0.0:1.0:0.0:0.0	.	65	Q92765	SFRP3_HUMAN	T	65	ENSP00000295113:A65T	ENSP00000295113:A65T	A	-	1	0	FRZB	183439333	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.564000	0.82326	2.530000	0.85305	0.561000	0.74099	GCC	FRZB	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000162998		0.622	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	-	0	61	0	C	NM_001463		183731088	-1	tier1	-	no_errors	ENST00000295113	ensembl	human	known	74_37	missense	8.96	61	6	SNP	1.000	T	T	183731088	C	T	183731088	3	4	42	1	0	0	0	0	1	0	0	0	6089	768	27	1	808	1	FRZB	2	183731088	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1187623	183731088	59468285	44	10212											
ZNF804A	91752	genome.wustl.edu	37	chr2	185802855	185802855	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgaattgtcagatgtttCcaatgatcccaccacatctg	10	13	8	10	0	2	3	1	2	1	1	4	3	4	3	3	1	0	1	3	1	2	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:185802855C>A	ENST00000302277.6	+	4	3326	c.2732C>A	c.(2731-2733)tCc>tAc	p.S911Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	911							metal ion binding (GO:0046872)	p.S911Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCAGATGTTTCCAATGATCCC	0.403																																																	1	Substitution - Missense(1)	prostate(1)											91	87	88					2																	185802855		2203	4300	6503	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2732C>A	2.37:g.185802855C>A	ENSP00000303252:p.Ser911Tyr		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S911Y	ENST00000302277.6	37	c.2732	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	C	9.027	0.986376	0.18889	.	.	ENSG00000170396	ENST00000302277	T	0.06687	3.27	5.57	4.5	0.54988	.	0.348482	0.25047	N	0.033542	T	0.06645	0.0170	L	0.29908	0.895	0.09310	N	1	P	0.41947	0.766	B	0.37047	0.24	T	0.28427	-1.0044	10	0.87932	D	0	-1.96	9.9012	0.41348	0.0:0.79:0.0:0.21	.	911	Q7Z570	Z804A_HUMAN	Y	911	ENSP00000303252:S911Y	ENSP00000303252:S911Y	S	+	2	0	ZNF804A	185511100	0.002000	0.14202	0.036000	0.18154	0.017000	0.09413	1.132000	0.31418	2.613000	0.88420	0.591000	0.81541	TCC	ZNF804A	-	NULL	ENSG00000170396		0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1		0	45	0	C	NM_194250		185802855	1			no_errors	ENST00000302277	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.001	A	A	185802855	C	A	185802855	3	1	42	1	0	0	0	0	1	0	0	0	18218	855	30	3	2746	3	ZNF804A	2	185802855	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	2071767	185802855	57396518	45	10213											
MAP2	4133	genome.wustl.edu	37	chr2	210557512	210557512	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccagagacaactaaaacTtaccctgataaaaaggacat	19	6	6	10	0	0	2	0	1	0	1	0	4	0	3	2	1	4	0	2	1	7	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:210557512T>G	ENST00000360351.4	+	7	1124	c.618T>G	c.(616-618)acT>acG	p.T206T	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.T202T|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	206					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAACTAAAACTTACCCTGATA	0.458																																					Pancreas(27;423 979 28787 29963)												0													85	83	84					2																	210557512		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.618T>G	2.37:g.210557512T>G			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.T206	ENST00000360351.4	37	c.618	CCDS2384.1	2																																																																																			MAP2	-	NULL	ENSG00000078018		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	58	0	T	NM_001039538		210557512	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.000	G	G	210557512	T	G	210557512	2	3	42	1	0	0	0	0	0	0	0	1	9273	1596	56	4		4	MAP2	2	210557512	Silent	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	24754657	210557512	32641861	46	10214											
SPEG	10290	genome.wustl.edu	37	chr2	220348119	220348119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactggcaggagcagggaagGgctccctctcaggaccagga	10	4	16	11	0	1	0	1	0	1	0	3	5	2	4	2	6	1	3	2	6	1	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:220348119G>A	ENST00000312358.7	+	30	6066	c.5934G>A	c.(5932-5934)agG>agA	p.R1978R	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1978					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCAGGGAAGGGCTCCCTCTC	0.711																																																	0													7	9	9					2																	220348119		1813	4018	5831	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5934G>A	2.37:g.220348119G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1978	ENST00000312358.7	37	c.5934	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.711	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0	48	0	G	NM_005876		220348119	1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	silent	14.29	36	6	SNP	0.993	A	A	220348119	G	A	220348119	2	1	42	1	0	0	0	0	0	0	0	1	15083	1223	43	3		3	SPEG	2	220348119	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	9790607	220348119	22851254	47	10215											
RNPEPL1	57140	genome.wustl.edu	37	chr2	241513968	241513968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagactgccttccgccTggacgccctgcaccggcaga	6	6	12	17	3	0	2	0	0	0	2	1	4	1	3	6	3	2	2	6	3	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr2:241513968T>C	ENST00000270357.4	+	6	1111	c.518T>C	c.(517-519)cTg>cCg	p.L173P		NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	173					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCCTTCCGCCTGGACGCCCTG	0.652																																																	0													41	40	40					2																	241513968		2202	4300	6502	SO:0001583	missense	0					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.518T>C	2.37:g.241513968T>C	ENSP00000270357:p.Leu173Pro		Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.L173P	ENST00000270357.4	37	c.518		2	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441819	0.63067	.	.	ENSG00000142327	ENST00000270357	T	0.03272	3.99	4.64	3.43	0.39272	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.088582	0.46758	D	0.000266	T	0.15089	0.0364	M	0.78344	2.41	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.986	T	0.00475	-1.1717	10	0.39692	T	0.17	-19.2717	9.556	0.39339	0.0:0.0:0.1778:0.8222	.	79;173	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	P	173	ENSP00000270357:L173P	ENSP00000270357:L173P	L	+	2	0	RNPEPL1	241162641	1.000000	0.71417	0.986000	0.45419	0.968000	0.65278	4.473000	0.60196	0.684000	0.31448	0.482000	0.46254	CTG	RNPEPL1	-	pfam_Peptidase_M1_N	ENSG00000142327		0.652	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	-	0	60	0	T	NM_018226		241513968	1	tier1	-	no_errors	ENST00000270357	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C	C	241513968	T	C	241513968	3	2	42	1	0	0	0	0	1	0	0	0	13555	1580	55	4	532	4	RNPEPL1	2	241513968	Missense_Mutation	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	21165849	241513968	1685405	48	10216											
CCDC13	152206	genome.wustl.edu	37	chr3	42771960	42771960	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtgccatgtgttaccGtttctgcaggacagtgacaa	8	11	12	10	1	1	1	0	1	1	0	1	2	1	2	3	2	3	3	3	2	2	2	rs200289473		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:42771960G>A	ENST00000310232.6	-	13	1800	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	573										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ATGTGTTACCGTTTCTGCAGG	0.597																																																	0													95	86	89					3																	42771960		2203	4300	6503	SO:0001630	splice_region_variant	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1718+1C>T	3.37:g.42771960G>A				Missense_Mutation	SNP	superfamily_Prefoldin	p.R573W	ENST00000310232.6	37	c.1717	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979380	0.74360	.	.	ENSG00000244607	ENST00000310232	T	0.12774	2.65	5.76	2.6	0.31112	.	0.167523	0.49916	D	0.000127	T	0.36441	0.0967	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.26744	-1.0094	10	0.87932	D	0	.	12.7853	0.57500	0.0:0.0:0.3363:0.6637	.	573	Q8IYE1	CCD13_HUMAN	W	573	ENSP00000309836:R573W	ENSP00000309836:R573W	R	-	1	2	CCDC13	42746964	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.230000	0.42999	0.733000	0.32492	0.655000	0.94253	CGG	CCDC13	-	NULL	ENSG00000244607		0.597	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	-	0	65	0	G	NM_144719	Missense_Mutation	42771960	-1	tier1	rs200289473	no_errors	ENST00000310232	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	A	A	42771960	G	A	42771960	5	1	42	1	0	0	0	0	0	0	1	0	2772	1159	40	1	446	1	CCDC13	3	42771960	Splice_Site	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		42771960	155250470	49	10217											
ERC2	26059	genome.wustl.edu	37	chr3	56207521	56207521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgtcttggctggctccgGctgaagttggcttcttcggt	2	15	13	11	3	2	1	0	1	2	0	5	1	3	1	1	5	0	5	1	5	1	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:56207521G>A	ENST00000288221.6	-	4	1357	c.1102C>T	c.(1102-1104)Ccg>Tcg	p.P368S		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	368						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTGGCTCCGGCTGAAGTTGG	0.483																																																	0													72	79	77					3																	56207521		2132	4251	6383	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1102C>T	3.37:g.56207521G>A	ENSP00000288221:p.Pro368Ser		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.P368S	ENST00000288221.6	37	c.1102	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972963	0.74246	.	.	ENSG00000187672	ENST00000288221	T	0.45276	0.9	5.43	5.43	0.79202	.	0.219302	0.48767	D	0.000171	T	0.47948	0.1473	M	0.69823	2.125	0.36288	D	0.856193	B	0.09022	0.002	B	0.10450	0.005	T	0.52533	-0.8563	10	0.48119	T	0.1	-8.7614	19.6011	0.95561	0.0:0.0:1.0:0.0	.	368	O15083	ERC2_HUMAN	S	368	ENSP00000288221:P368S	ENSP00000288221:P368S	P	-	1	0	ERC2	56182561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.807000	0.62576	2.703000	0.92315	0.557000	0.71058	CCG	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.483	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0	63	0	G	NM_015576		56207521	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	A	A	56207521	G	A	56207521	3	1	42	1	0	0	0	0	1	0	0	0	5227	1203	42	3	1817	3	ERC2	3	56207521	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	13435561	56207521	141814909	50	10218											
EPHA6	285220	genome.wustl.edu	37	chr3	97185294	97185294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgacaaaactgtactGgcttaatgaaaagtgggact	15	10	10	6	0	1	2	1	2	0	0	1	3	1	3	0	2	2	2	0	2	7	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:97185294G>T	ENST00000514100.1	+	4	280	c.38G>T	c.(37-39)tGg>tTg	p.W13L	EPHA6_ENST00000502694.1_Missense_Mutation_p.W13L|EPHA6_ENST00000442602.2_Intron|EPHA6_ENST00000389672.5_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						aaactgtactggcttaatgaa	0.428																																																	0													116	110	112					3																	97185294		1849	4099	5948	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.38G>T	3.37:g.97185294G>T	ENSP00000421711:p.Trp13Leu		D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.W13L	ENST00000514100.1	37	c.38		3	.	.	.	.	.	.	.	.	.	.	G	10.75	1.439131	0.25900	.	.	ENSG00000080224	ENST00000514100;ENST00000502694	T;T	0.80994	-1.44;-1.2	3.58	-0.719	0.11201	.	.	.	.	.	T	0.58206	0.2106	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.15052	0.0;0.012	T	0.46498	-0.9187	9	0.51188	T	0.08	.	4.0235	0.09677	0.2485:0.3833:0.3682:0.0	.	13;13	Q9UF33-2;D6RAL5	.;.	L	13	ENSP00000421711:W13L;ENSP00000423950:W13L	ENSP00000423950:W13L	W	+	2	0	EPHA6	98667984	0.002000	0.14202	0.000000	0.03702	0.040000	0.13550	0.328000	0.19681	-0.151000	0.11176	0.603000	0.83216	TGG	EPHA6	-	NULL	ENSG00000080224		0.428	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	-	0	40	0	G	NM_001080448		97185294	1	tier1	-	no_errors	ENST00000502694	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.000	T	T	97185294	G	T	97185294	3	4	42	1	0	0	0	0	1	0	0	0	5187	1357	47	3	1956	3	EPHA6	3	97185294	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	40977773	97185294	100837136	51	10219											
CD96	10225	genome.wustl.edu	37	chr3	111319605	111319605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgaagagagaaaaggcAaagatggatttttggaactg	17	9	12	3	0	0	4	0	1	0	3	0	7	0	6	0	3	1	1	0	3	6	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:111319605A>G	ENST00000283285.5	+	8	1110	c.979A>G	c.(979-981)Aaa>Gaa	p.K327E	CD96_ENST00000438817.2_Missense_Mutation_p.K311E|CD96_ENST00000352690.4_Missense_Mutation_p.K311E	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	327	Ig-like C2-type.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAGAAAAGGCAAAGATGGATT	0.378									Opitz Trigonocephaly syndrome																																								0													104	104	104					3																	111319605		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	16892	protein-coding gene	gene with protein product		606037	"CD96 antigen"			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.979A>G	3.37:g.111319605A>G	ENSP00000283285:p.Lys327Glu		Q5JPB3	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.K327E	ENST00000283285.5	37	c.979	CCDS2959.1	3	.	.	.	.	.	.	.	.	.	.	A	11.06	1.528829	0.27387	.	.	ENSG00000153283	ENST00000352690;ENST00000283285;ENST00000438817	T;T;T	0.00603	6.28;6.28;6.28	4.92	-0.677	0.11357	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.870680	0.09917	N	0.739006	T	0.00412	0.0013	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.48089	0.626;0.573;0.905;0.905	B;B;B;B	0.42030	0.253;0.164;0.253;0.373	T	0.33803	-0.9854	10	0.08179	T	0.78	-4.2897	4.0515	0.09798	0.4326:0.3648:0.2026:0.0	.	311;311;327;311	E9PEJ1;P40200-2;P40200;Q8WUE2	.;.;TACT_HUMAN;.	E	311;327;311	ENSP00000342040:K311E;ENSP00000283285:K327E;ENSP00000389801:K311E	ENSP00000283285:K327E	K	+	1	0	CD96	112802295	0.002000	0.14202	0.002000	0.10522	0.093000	0.18481	0.644000	0.24766	0.270000	0.21984	-0.263000	0.10527	AAA	CD96	-	pfscan_Ig-like_dom	ENSG00000153283		0.378	CD96-001	KNOWN	basic|CCDS	protein_coding	CD96	HGNC	protein_coding	OTTHUMT00000354312.2	-	0	56	0	A			111319605	1	tier1	-	no_errors	ENST00000283285	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.000	G	G	111319605	A	G	111319605	3	3	42	1	0	0	0	0	1	0	0	0	3055	131	5	4	1009	4	CD96	3	111319605	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	14134311	111319605	86702825	52	10220											
SEMA5B	54437	genome.wustl.edu	37	chr3	122631065	122631065	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctccgtgtgcagcccGagacagatgtcctcacctgg	6	8	11	16	2	1	2	1	0	0	2	4	3	4	2	6	1	2	1	6	1	0	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:122631065G>T	ENST00000357599.3	-	19	3236	c.2850C>A	c.(2848-2850)ctC>ctA	p.L950L	SEMA5B_ENST00000451055.2_Silent_p.L1004L|SEMA5B_ENST00000195173.4_Silent_p.L949L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	950	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGTGCAGCCCGAGACAGATGT	0.642																																																	0													60	50	53					3																	122631065		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2850C>A	3.37:g.122631065G>T			A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.L1004	ENST00000357599.3	37	c.3012	CCDS35491.1	3																																																																																			SEMA5B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000082684		0.642	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1		0	42	0	G	NM_001031702		122631065	-1			no_errors	ENST00000451055	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.685	T	T	122631065	G	T	122631065	2	4	42	1	0	0	0	0	0	0	0	1	14083	1045	37	2		2	SEMA5B	3	122631065	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	11311460	122631065	75391365	53	10221											
ATP2C1	27032	genome.wustl.edu	37	chr3	130672735	130672735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctaaggtgacagctcCtcagccagctgcaactaatg	10	11	9	11	0	2	1	1	1	1	0	3	1	3	1	2	1	5	4	2	1	3	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:130672735C>T	ENST00000510168.1	+	9	1152	c.602C>T	c.(601-603)cCt>cTt	p.P201L	ATP2C1_ENST00000508532.1_Missense_Mutation_p.P201L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.P201L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.P201L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.P185L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.P201L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.P185L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.P235L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.P196L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.P146L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.P201L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.P185L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.P185L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	201			P -> L (in HHD). {ECO:0000269|PubMed:10767338}.		actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGACAGCTCCTCAGCCAGCT	0.443									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0			GRCh37	CM003651	ATP2C1	M							133	126	128					3																	130672735		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.602C>T	3.37:g.130672735C>T	ENSP00000427461:p.Pro201Leu		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.P235L	ENST00000510168.1	37	c.704	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.71|17.71	3.457784|3.457784	0.63401|0.63401	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.87729	.|-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.42|5.42	5.42|5.42	0.78866|0.78866	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.055003	.|0.64402	.|D	.|0.000001	T|T	0.81800|0.81800	0.4899|0.4899	L|L	0.28014|0.28014	0.82|0.82	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.16166	.|0.016;0.009;0.003;0.007;0.003;0.004;0.005	.|B;B;B;B;B;B;B	.|0.17979	.|0.019;0.02;0.02;0.005;0.02;0.005;0.008	T|T	0.75545|0.75545	-0.3280|-0.3280	5|10	.|0.33940	.|T	.|0.23	.|.	19.2162|19.2162	0.93780|0.93780	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235;196;235;201;235;201;201	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	F|L	155|185;146;185;235;196;201;201;185;185;201;201;201;201;200	.|ENSP00000423774:P185L;ENSP00000425320:P146L;ENSP00000421326:P185L;ENSP00000376914:P235L;ENSP00000432956:P196L;ENSP00000427461:P201L;ENSP00000424783:P201L;ENSP00000423330:P185L;ENSP00000422872:P185L;ENSP00000329664:P201L;ENSP00000395809:P201L;ENSP00000352665:P201L;ENSP00000402677:P201L	.|ENSP00000329664:P201L	L|P	+|+	1|2	0|0	ATP2C1|ATP2C1	132155425|132155425	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.584000|4.584000	0.60971|0.60971	2.550000|2.550000	0.86006|0.86006	0.650000|0.650000	0.86243|0.86243	CTC|CCT	ATP2C1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000017260		0.443	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0	50	0	C	NM_001001486		130672735	1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	130672735	C	T	130672735	3	4	42	1	0	0	0	0	1	0	0	0	1144	681	24	3	632	3	ATP2C1	3	130672735	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	8041670	130672735	67349695	54	10222											
ASTE1	28990	genome.wustl.edu	37	chr3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T																															ggtattctgtttcttctgccINStttttttttttgaatttgat																										TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000513801.1_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																																	2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1895_1894	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0	51	0	-	NM_014065		130733047	-1	tier1		no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_ins	9.52	38	4	INS	0.003:0.014	T	T	130733047	-	T	130733046	7	5	42	1	0	1	1	0	0	0	0	0	1063	681	24	0	148	0	ASTE1	3	130733046	Frame_Shift_Ins	INS	-	TCGA-JY-A939-01A-12D-A37C-09	60311	130733046	67289384	55	10223											
EIF2A	83939	genome.wustl.edu	37	chr3	150280436	150280436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtcctggcaacgtggcAgccttacactagtaagtatt	10	12	9	10	1	0	0	0	0	0	0	1	0	1	0	2	2	4	4	2	2	6	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:150280436A>G	ENST00000460851.1	+	4	390	c.281A>G	c.(280-282)cAg>cGg	p.Q94R	EIF2A_ENST00000406576.3_Missense_Mutation_p.Q94R|EIF2A_ENST00000487799.1_Missense_Mutation_p.Q69R|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.Q89R			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	94					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCAACGTGGCAGCCTTACACT	0.408																																																	0													72	66	68					3																	150280436		1879	4108	5987	SO:0001583	missense	0			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.281A>G	3.37:g.150280436A>G	ENSP00000417229:p.Gln94Arg		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	pfam_TIF_beta_prop-like,pirsf_TIF2A	p.Q94R	ENST00000460851.1	37	c.281	CCDS46935.1	3	.	.	.	.	.	.	.	.	.	.	A	27.3	4.820455	0.90873	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000482093;ENST00000273435	T;T;T;T;T	0.53640	0.99;0.99;0.61;0.99;0.99	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.69358	2.11	0.33656	D	0.609108	D;B;P	0.58620	0.983;0.035;0.609	P;B;B	0.50791	0.65;0.025;0.168	T	0.73646	-0.3917	10	0.87932	D	0	-2.7643	16.2578	0.82526	1.0:0.0:0.0:0.0	.	94;69;94	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	R	69;94;94;94;89	ENSP00000420537:Q69R;ENSP00000417229:Q94R;ENSP00000385292:Q94R;ENSP00000418698:Q94R;ENSP00000273435:Q89R	ENSP00000273435:Q89R	Q	+	2	0	EIF2A	151763126	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.717000	0.91425	2.245000	0.73994	0.482000	0.46254	CAG	EIF2A	-	pirsf_TIF2A	ENSG00000144895		0.408	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	-	0	61	0	A	NM_032025		150280436	1	tier1	-	no_errors	ENST00000460851	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G	G	150280436	A	G	150280436	3	3	42	1	0	0	0	0	1	0	0	0	5009	188	7	4	295	4	EIF2A	3	150280436	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	19547390	150280436	47741994	56	10224											
LMLN	89782	genome.wustl.edu	37	chr3	197762815	197762815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatggctggattcacGatggaaacctgctctgccca	11	9	11	10	1	2	2	1	1	1	1	2	5	2	4	2	3	3	2	2	3	2	1	rs147639153		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr3:197762815G>T	ENST00000330198.4	+	15	1790	c.1768G>T	c.(1768-1770)Gat>Tat	p.D590Y	LMLN_ENST00000482695.1_Missense_Mutation_p.D575Y|LMLN_ENST00000420910.2_Missense_Mutation_p.D627Y|LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000332636.5_Missense_Mutation_p.D538Y	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	590					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTGGATTCACGATGGAAACCT	0.522																																																	0													128	120	122					3																	197762815		2203	4300	6503	SO:0001583	missense	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1768G>T	3.37:g.197762815G>T	ENSP00000328829:p.Asp590Tyr		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.D590Y	ENST00000330198.4	37	c.1768	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541091	0.27563	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.28	3.38	0.38709	.	0.732861	0.13326	N	0.396278	T	0.42494	0.1205	N	0.22421	0.69	0.09310	N	1	D;P;D;B;B	0.59357	0.965;0.773;0.985;0.04;0.018	P;P;P;B;B	0.57911	0.829;0.465;0.679;0.078;0.047	T	0.19031	-1.0318	10	0.56958	D	0.05	-1.5213	8.1992	0.31415	0.2056:0.0:0.7944:0.0	.	590;538;627;619;575	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	Y	575;590;627;538	ENSP00000418324:D575Y;ENSP00000328829:D590Y;ENSP00000410926:D627Y;ENSP00000328611:D538Y	ENSP00000328829:D590Y	D	+	1	0	LMLN	199247212	0.099000	0.21834	0.007000	0.13788	0.952000	0.60782	2.344000	0.44010	0.519000	0.28406	0.650000	0.86243	GAT	LMLN	-	pfam_Peptidase_M8	ENSG00000185621		0.522	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1		0	85	0	G	NM_033029		197762815	1			no_errors	ENST00000330198	ensembl	human	known	74_37	missense	6.06	61	4	SNP	0.016	T	T	197762815	G	T	197762815	3	4	42	1	0	0	0	0	1	0	0	0	8877	1058	37	2	1941	2	LMLN	3	197762815	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	47482379	197762815	259615	57	10225											
BOD1L	259282	genome.wustl.edu	37	chr4	13615149	13615149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttaccatctgacgtaatCtctccttcttccatgctatc	7	16	4	14	1	3	1	0	1	3	0	7	1	5	1	3	0	2	3	3	0	3	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr4:13615149C>T	ENST00000040738.5	-	5	1446	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	437	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGACGTAATCTCTCCTTCTT	0.388																																																	0													174	165	168					4																	13615149		2203	4300	6503	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1311G>A	4.37:g.13615149C>T			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.E437	ENST00000040738.5	37	c.1311	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.388	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1		0	34	0	C	NM_148894		13615149	-1			no_errors	ENST00000040738	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	13615149	C	T	13615149	2	4	42	1	0	0	0	0	0	0	0	1	1485	912	32	3		3	BOD1L	4	13615149	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09		13615149	177539127	58	10226											
FRYL	285527	genome.wustl.edu	37	chr4	48636316	48636316	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtactcaccaagggttCggccattacaacttcaattt	11	12	7	11	1	2	0	2	0	0	0	3	0	2	0	2	2	4	3	2	2	5	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr4:48636316C>A	ENST00000503238.1	-	1	111	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	FRYL_ENST00000358350.4_Nonsense_Mutation_p.E38*|FRYL_ENST00000514783.1_5'Flank|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E38*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E38*			O94915	FRYL_HUMAN	FRY-like	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACCAAGGGTTCGGCCATTACA	0.353																																																	0													104	95	98					4																	48636316		1848	4096	5944	SO:0001587	stop_gained	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.112G>T	4.37:g.48636316C>A	ENSP00000426064:p.Glu38*		O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E38*	ENST00000503238.1	37	c.112	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	41	9.014492	0.99037	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000505759	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.659	0.91465	0.0:1.0:0.0:0.0	.	.	.	.	X	38;38;38;38;130	.	ENSP00000351113:E38X	E	-	1	0	FRYL	48331073	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.445000	0.80570	2.475000	0.83589	0.650000	0.86243	GAA	FRYL	-	NULL	ENSG00000075539		0.353	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2		0	61	0	C			48636316	-1			no_errors	ENST00000358350	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	A	A	48636316	C	A	48636316	4	1	42	1	0	0	0	0	0	1	0	0	6088	893	31	2	9173	2	FRYL	4	48636316	Nonsense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	35021167	48636316	142517960	59	10227											
KDR	3791	genome.wustl.edu	37	chr4	55956188	55956188	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagccaaagtcacagatttTaaccacgttcttctccgata	13	11	5	12	2	3	1	1	0	2	1	4	2	3	1	3	0	2	1	3	0	4	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr4:55956188T>A	ENST00000263923.4	-	23	3422	c.3127A>T	c.(3127-3129)Aaa>Taa	p.K1043*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1043	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCACAGATTTTAACCACGTTC	0.438			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													95	93	94					4																	55956188		2203	4300	6503	SO:0001587	stop_gained	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3127A>T	4.37:g.55956188T>A	ENSP00000263923:p.Lys1043*		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.K1043*	ENST00000263923.4	37	c.3127	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	44	11.166958	0.99525	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1634	0.81734	0.0:0.0:0.0:1.0	.	.	.	.	X	1043	.	ENSP00000263923:K1043X	K	-	1	0	KDR	55650945	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.997000	0.88414	2.276000	0.75962	0.460000	0.39030	AAA	KDR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000128052		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1		0	57	0	T			55956188	-1			no_errors	ENST00000263923	ensembl	human	known	74_37	nonsense	13.33	39	6	SNP	1.000	A	A	55956188	T	A	55956188	4	1	42	1	0	0	0	0	0	1	0	0	8166	1763	61	5	975	5	KDR	4	55956188	Nonsense_Mutation	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	7319872	55956188	135198088	60	10228											
SLC4A4	8671	genome.wustl.edu	37	chr4	72338536	72338536	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatacttcacacgtttcacGgaggagggcttttcctctct	8	13	8	12	2	3	0	2	0	1	0	5	2	4	2	1	3	1	2	1	3	2	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr4:72338536G>T	ENST00000264485.5	+	14	1869	c.1752G>T	c.(1750-1752)acG>acT	p.T584T	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.T540T|SLC4A4_ENST00000340595.3_Silent_p.T540T|SLC4A4_ENST00000425175.1_Silent_p.T584T|SLC4A4_ENST00000351898.6_Silent_p.T584T	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	584					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CACGTTTCACGGAGGAGGGCT	0.453																																																	0													175	167	170					4																	72338536		2203	4300	6503	SO:0001819	synonymous_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1752G>T	4.37:g.72338536G>T			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T584	ENST00000264485.5	37	c.1752	CCDS43236.1	4																																																																																			SLC4A4	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000080493		0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	-	0	82	0	G	NM_003759		72338536	1	tier1	-	no_errors	ENST00000425175	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.001	T	T	72338536	G	T	72338536	2	4	42	1	0	0	0	0	0	0	0	1	14701	1103	39	2		2	SLC4A4	4	72338536	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	16382348	72338536	118815740	61	10229											
ANKRD50	57182	genome.wustl.edu	37	chr4	125599956	125599956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagataagctggtagacGtttgttcaccttcagtaatg	10	13	9	9	1	2	2	2	0	0	2	3	2	3	2	2	1	1	5	2	1	3	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr4:125599956G>A	ENST00000504087.1	-	3	1654	c.617C>T	c.(616-618)aCg>aTg	p.T206M	ANKRD50_ENST00000515641.1_Missense_Mutation_p.T27M	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	206										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTGGTAGACGTTTGTTCACC	0.473																																																	0													202	197	199					4																	125599956		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.617C>T	4.37:g.125599956G>A	ENSP00000425658:p.Thr206Met		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T206M	ENST00000504087.1	37	c.617	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	6.878	0.531386	0.13127	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66995	2.51;-0.24	5.81	4.96	0.65561	.	0.205916	0.41500	D	0.000866	T	0.46889	0.1416	N	0.19112	0.55	0.09310	N	1	P	0.51653	0.947	B	0.34452	0.183	T	0.39313	-0.9620	10	0.31617	T	0.26	.	15.2429	0.73485	0.0:0.2662:0.7338:0.0	.	206	Q9ULJ7	ANR50_HUMAN	M	206;27	ENSP00000425658:T206M;ENSP00000425355:T27M	ENSP00000425658:T206M	T	-	2	0	ANKRD50	125819406	0.995000	0.38212	0.010000	0.14722	0.003000	0.03518	3.209000	0.51122	1.454000	0.47793	-0.283000	0.09986	ACG	ANKRD50	-	NULL	ENSG00000151458		0.473	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0	26	0	G	NM_020337		125599956	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.142	A	A	125599956	G	A	125599956	3	1	42	1	0	0	0	0	1	0	0	0	677	1145	40	1	3680	1	ANKRD50	4	125599956	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	53261420	125599956	65554320	62	10230											
DCHS2	54798	genome.wustl.edu	37	chr4	155155708	155155708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatatttgaacttcatcttCtgctttaagttcatggcatg	9	18	6	8	0	5	1	3	1	2	0	5	1	5	1	0	1	2	3	0	1	3	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr4:155155708C>T	ENST00000357232.4	-	25	8730	c.8731G>A	c.(8731-8733)Gaa>Aaa	p.E2911K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2911					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTTCATCTTCTGCTTTAAGT	0.428																																																	0													150	126	134					4																	155155708		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8731G>A	4.37:g.155155708C>T	ENSP00000349768:p.Glu2911Lys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E2911K	ENST00000357232.4	37	c.8731	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362326	0.61403	.	.	ENSG00000197410	ENST00000357232	T	0.55930	0.49	5.5	5.5	0.81552	.	0.269961	0.32640	N	0.005831	T	0.35740	0.0942	N	0.04508	-0.205	0.80722	D	1	P	0.52316	0.952	P	0.44422	0.449	T	0.44329	-0.9335	10	0.62326	D	0.03	.	15.1217	0.72450	0.0:0.8592:0.1408:0.0	.	2911	Q6V1P9	PCD23_HUMAN	K	2911	ENSP00000349768:E2911K	ENSP00000349768:E2911K	E	-	1	0	DCHS2	155375158	0.979000	0.34478	0.992000	0.48379	0.432000	0.31715	1.877000	0.39598	2.854000	0.98071	0.655000	0.94253	GAA	DCHS2	-	NULL	ENSG00000197410		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	44	0	C	NM_001142552		155155708	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	155155708	C	T	155155708	3	4	42	1	0	0	0	0	1	0	0	0	4297	922	32	3	23	3	DCHS2	4	155155708	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	29555752	155155708	35998568	63	10231											
SLC12A7	10723	genome.wustl.edu	37	chr5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG																															tgcagggcctccccgaacctINSgcaggcaggcgggcaggcgg																								rs369273236|rs369196468|rs200032397	byFrequency	TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGAACCTgcaggcaggcg	0.673														58	0.0115815	0.0159	0.0144	5008	,	,		15824	0		0.0209	False		,,,				2504	0.0061																0										94,3970		14,66,1952						3.5	1			11	265,7685		24,217,3734	no	splice-3	SLC12A7	NM_006598.2		38,283,5686	A1A1,A1R,RR		3.3333,2.313,2.9882				359,11655				SO:0001630	splice_region_variant	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1455-2->CTGC	5.37:g.1078129_1078132dupGCAG			A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Splice_Site	INS	-	e12-2	ENST00000264930.5	37	c.1455-3_1455-2	CCDS34129.1	5																																																																																			SLC12A7	-	-	ENSG00000113504		0.673	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2		0	15	0	-	NM_006598	Intron	1078125	-1	tier1		no_errors	ENST00000264930	ensembl	human	known	74_37	splice_site_ins	38.46	8	5	INS	1.000:0.971	GCAG	GCAG	1078125	-	GCAG	1078124	8	5	42	1	0	1	1	0	0	0	1	0	14433	1594	55	0	1850	0	SLC12A7	5	1078124	Splice_Site	INS	-	TCGA-JY-A939-01A-12D-A37C-09		1078124	179837136	64	10232											
UGT3A2	167127	genome.wustl.edu	37	chr5	36037942	36037942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcttaagagccaatgtctCtgccttgagcttctttaact	9	15	6	11	0	3	2	0	1	3	1	4	2	3	2	2	0	4	1	2	0	3	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:36037942C>T	ENST00000282507.3	-	6	1353	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E384K|UGT3A2_ENST00000545528.1_Missense_Mutation_p.E116K	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	418					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.E418*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAATGTCTCTGCCTTGAGC	0.443																																																	1	Substitution - Nonsense(1)	lung(1)											177	164	168					5																	36037942		2203	4300	6503	SO:0001583	missense	0				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"UDP glucuronosyltransferases"	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1252G>A	5.37:g.36037942C>T	ENSP00000282507:p.Glu418Lys		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E418K	ENST00000282507.3	37	c.1252	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727663	0.48833	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.66995	-0.24;-0.24;3.0	3.18	2.3	0.28687	.	0.000000	0.64402	U	0.000004	T	0.75265	0.3826	M	0.76328	2.33	0.44447	D	0.997376	D;P	0.63046	0.992;0.955	D;P	0.63113	0.911;0.676	T	0.72437	-0.4294	10	0.26408	T	0.33	.	10.257	0.43403	0.0:0.8937:0.0:0.1063	.	384;418	E9PFK7;Q3SY77	.;UD3A2_HUMAN	K	418;384;116	ENSP00000282507:E418K;ENSP00000427404:E384K;ENSP00000445367:E116K	ENSP00000282507:E418K	E	-	1	0	UGT3A2	36073699	0.505000	0.26131	0.905000	0.35620	0.569000	0.35902	1.304000	0.33482	0.888000	0.36160	0.563000	0.77884	GAG	UGT3A2	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000168671		0.443	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	-	0	78	0	C	NM_174914		36037942	-1	tier1	-	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	14.49	59	10	SNP	0.947	T	T	36037942	C	T	36037942	3	4	42	1	0	0	0	0	1	0	0	0	17013	922	32	3	327	3	UGT3A2	5	36037942	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	34959818	36037942	144877318	65	10233											
ADAMTS6	11174	genome.wustl.edu	37	chr5	64468749	64468749	+	5'UTR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttgctttcctctggacaTtgtgcagctgggaatgtctt	5	16	12	8	0	2	0	0	0	2	0	3	2	3	2	1	3	3	4	1	3	1	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:64468749T>A	ENST00000314351.5	-	0	656							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CCTCTGGACATTGTGCAGCTG	0.532																																																	0													164	142	149					5																	64468749		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"ADAM metallopeptidases with thrombospondin type 1 motif"	222	protein-coding gene	gene with protein product	"a disintegrin and metalloproteinase with thrombospondin motifs 6"	605008	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-666A>T	5.37:g.64468749T>A			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Q999H	ENST00000314351.5	37	c.2997		5	.	.	.	.	.	.	.	.	.	.	T	9.469	1.095069	0.20471	.	.	ENSG00000049192	ENST00000381055	T	0.60672	0.17	5.56	-11.1	0.00147	.	0.310612	0.35207	N	0.003368	T	0.27489	0.0675	N	0.16307	0.4	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.11421	-1.0588	10	0.31617	T	0.26	.	8.909	0.35541	0.1021:0.5525:0.1329:0.2124	.	999	Q9UKP5	ATS6_HUMAN	H	999	ENSP00000370443:Q999H	ENSP00000370443:Q999H	Q	-	3	2	ADAMTS6	64504505	0.090000	0.21635	0.694000	0.30210	0.987000	0.75469	-0.927000	0.03984	-1.691000	0.01430	-0.256000	0.11100	CAA	ADAMTS6	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000049192		0.532	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2	-	0	54	0	T	NM_197941		64468749	-1	tier1	-	no_errors	ENST00000381055	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.056	A	A	64468749	T	A	64468749	1	1	42	0	1	0	0	0	0	0	0	0	270	1490	52	5		5	ADAMTS6	5	64468749	5'UTR	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	28430807	64468749	116446511	66	10234											
EDIL3	10085	genome.wustl.edu	37	chr5	83402504	83402504	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcattttctgcagctgtcCacgcatttataagccccttc	7	15	6	13	1	2	0	1	0	1	0	4	0	3	0	3	0	3	3	3	0	2	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:83402504C>T	ENST00000296591.5	-	6	1032	c.614G>A	c.(613-615)tGg>tAg	p.W205*	EDIL3_ENST00000380138.3_Nonsense_Mutation_p.W195*	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	205	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TGCAGCTGTCCACGCATTTAT	0.413																																																	0													169	160	163					5																	83402504		2203	4300	6503	SO:0001587	stop_gained	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.614G>A	5.37:g.83402504C>T	ENSP00000296591:p.Trp205*		B2R763|O43855|Q5D094|Q8N610	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.W205*	ENST00000296591.5	37	c.614	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.630596	0.98399	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	.	.	.	5.55	5.55	0.83447	.	0.169261	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2045	19.5157	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	205;195	.	ENSP00000296591:W205X	W	-	2	0	EDIL3	83438260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.277000	0.78572	2.630000	0.89119	0.650000	0.86243	TGG	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.413	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0	73	0	C	NM_005711		83402504	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	T	T	83402504	C	T	83402504	4	4	42	1	0	0	0	0	0	1	0	0	4929	595	21	3	852	3	EDIL3	5	83402504	Nonsense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	18933755	83402504	97512756	67	10235											
MEF2C	4208	genome.wustl.edu	37	chr5	88100421	88100421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgctctctcacctccacGatgtctgagtttgtccggct	5	13	9	14	2	3	1	1	1	2	0	6	2	5	1	3	1	1	4	3	1	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:88100421G>A	ENST00000437473.2	-	3	669	c.252C>T	c.(250-252)atC>atT	p.I84I	MEF2C_ENST00000514028.1_Silent_p.I84I|MEF2C_ENST00000506554.1_Silent_p.I84I|MEF2C_ENST00000514015.1_Silent_p.I84I|MEF2C_ENST00000424173.2_Silent_p.I84I|MEF2C_ENST00000510942.1_Silent_p.I84I|MEF2C_ENST00000340208.5_Silent_p.I84I|MEF2C_ENST00000539796.1_Silent_p.I84I|MEF2C_ENST00000508569.1_Silent_p.I84I|MEF2C_ENST00000504921.2_Silent_p.I84I	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	84					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TCACCTCCACGATGTCTGAGT	0.547										HNSCC(66;0.2)																																							0													117	108	111					5																	88100421		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.252C>T	5.37:g.88100421G>A			C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.I84	ENST00000437473.2	37	c.252	CCDS47245.1	5																																																																																			MEF2C	-	superfamily_TF_MADSbox	ENSG00000081189		0.547	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0	63	0	G	NM_002397		88100421	-1	tier1	-	no_errors	ENST00000437473	ensembl	human	known	74_37	silent	10.45	60	7	SNP	0.999	A	A	88100421	G	A	88100421	2	1	42	1	0	0	0	0	0	0	0	1	9495	1048	37	1		1	MEF2C	5	88100421	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	4697917	88100421	92814839	68	10236											
GPR98	84059	genome.wustl.edu	37	chr5	89938579	89938579	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggaccctatgttataaaAgtaagtacgaaaaaaacttc	19	9	7	6	1	0	1	0	0	0	1	1	3	0	2	1	1	2	3	1	1	9	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:89938579A>C	ENST00000405460.2	+	12	2463	c.2367A>C	c.(2365-2367)aaA>aaC	p.K789N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	789	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTTATAAAAGTAAGTACGA	0.358																																																	0													81	86	85					5																	89938579		1796	4065	5861	SO:0001630	splice_region_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2367+1A>C	5.37:g.89938579A>C			O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.K789N	ENST00000405460.2	37	c.2367	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	4.378	0.069659	0.08436	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.26518	1.73	5.09	-3.28	0.05033	Na-Ca exchanger/integrin-beta4 (1);	0.253642	0.46758	N	0.000271	T	0.08980	0.0222	N	0.12471	0.22	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.13388	-1.0511	10	0.34782	T	0.22	.	1.2194	0.01921	0.4406:0.1111:0.1432:0.3051	.	789	Q8WXG9	GPR98_HUMAN	N	789	ENSP00000384582:K789N	ENSP00000296619:K789N	K	+	3	2	GPR98	89974335	0.005000	0.15991	0.992000	0.48379	0.049000	0.14656	-1.095000	0.03356	-0.271000	0.09272	-0.545000	0.04230	AAA	GPR98	-	smart_Calx_beta	ENSG00000164199		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	84	0	A	NM_032119	Missense_Mutation	89938579	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.944	C	C	89938579	A	C	89938579	5	2	42	1	0	0	0	0	0	0	1	0	6748	86	3	4	2413	4	GPR98	5	89938579	Splice_Site	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	1838158	89938579	90976681	69	10237											
MCC	4163	genome.wustl.edu	37	chr5	112379231	112379231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaagggtgcttaccgacGaatggcgttggtgaactccg	9	8	16	8	4	0	1	0	1	0	0	1	4	1	2	2	4	3	2	2	4	4	2	rs372422505		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:112379231G>A	ENST00000302475.4	-	15	2745	c.2182C>T	c.(2182-2184)Cgt>Tgt	p.R728C	MCC_ENST00000515367.2_Missense_Mutation_p.R665C|MCC_ENST00000408903.3_Missense_Mutation_p.R918C|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	728					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCTTACCGACGAATGGCGTTG	0.562											OREG0016728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	CYS/ARG,CYS/ARG	0,4404		0,0,2202	109	69	83		2752,2182	5.2	1	5		83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	918/1020,728/830	112379231	1,13003	2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.2182C>T	5.37:g.112379231G>A	ENSP00000305617:p.Arg728Cys	1442	D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.R728C	ENST00000302475.4	37	c.2182	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208457	0.58343	0.0	1.16E-4	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.36520	2.42;2.42;1.25	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.973	T	0.42816	-0.9429	10	0.59425	D	0.04	.	12.8849	0.58038	0.0:0.0:0.8269:0.173	.	918;728	P23508-2;P23508	.;CRCM_HUMAN	C	728;665;918	ENSP00000305617:R728C;ENSP00000421615:R665C;ENSP00000386227:R918C	ENSP00000305617:R728C	R	-	1	0	MCC	112407130	1.000000	0.71417	0.992000	0.48379	0.258000	0.26162	2.581000	0.46077	2.409000	0.81822	0.561000	0.74099	CGT	MCC	-	NULL	ENSG00000171444		0.562	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0	54	0	G	NM_001085377		112379231	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.996	A	A	112379231	G	A	112379231	3	1	42	1	0	0	0	0	1	0	0	0	9411	1058	37	1	319	1	MCC	5	112379231	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	22440652	112379231	68536029	70	10238											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129072844	129072844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacctatgtcaggacatgcGgtggtatcagcgctgctgtg	8	10	14	9	2	2	0	2	0	0	0	2	2	2	1	1	3	4	3	1	3	3	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:129072844G>A	ENST00000274487.4	+	23	3702	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1186	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGGACATGCGGTGGTATCAG	0.517																																																	0													117	101	106					5																	129072844		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3557G>A	5.37:g.129072844G>A	ENSP00000274487:p.Arg1186Gln			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1186Q	ENST00000274487.4	37	c.3557	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524312	0.85600	.	.	ENSG00000145808	ENST00000274487	T	0.43688	0.94	4.12	4.12	0.48240	PLAC (2);	0.084240	0.43110	N	0.000617	T	0.49167	0.1541	N	0.19112	0.55	0.49915	D	0.999835	D	0.89917	1.0	D	0.91635	0.999	T	0.45469	-0.9259	9	.	.	.	.	17.6813	0.88243	0.0:0.0:1.0:0.0	.	1186	Q8TE59	ATS19_HUMAN	Q	1186	ENSP00000274487:R1186Q	.	R	+	2	0	ADAMTS19	129100743	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.679000	0.91220	2.599000	0.87857	0.650000	0.86243	CGG	ADAMTS19	-	pfam_PLAC,pfscan_PLAC	ENSG00000145808		0.517	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	62	0	G	NM_133638		129072844	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	A	A	129072844	G	A	129072844	3	1	42	1	0	0	0	0	1	0	0	0	264	1116	39	1	3647	1	ADAMTS19	5	129072844	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	16693613	129072844	51842416	71	10239											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140348787	140348787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatgttttacaatacaggGgcccagacaggaccagggcc	11	8	11	11	0	1	1	1	0	0	1	1	2	1	2	3	4	2	1	3	4	3	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:140348787G>A	ENST00000289269.5	+	1	2968	c.2436G>A	c.(2434-2436)ggG>ggA	p.G812G	PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	812					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATACAGGGGCCCAGACAG	0.537																																					Melanoma(190;638 2083 3390 11909 52360)												0													69	70	70					5																	140348787		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2436G>A	5.37:g.140348787G>A			Q2M3V1|Q9Y5F4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G812	ENST00000289269.5	37	c.2436	CCDS4242.1	5																																																																																			PCDHAC2	-	NULL	ENSG00000243232		0.537	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	-	0	36	0	G	NM_018899		140348787	1	tier1	-	no_errors	ENST00000289269	ensembl	human	known	74_37	silent	17.65	27	6	SNP	0.996	A	A	140348787	G	A	140348787	2	1	42	1	0	0	0	0	0	0	0	1	11572	1219	43	3		3	PCDHAC2	5	140348787	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	11275943	140348787	40566473	72	10240											
DIAPH1	1729	genome.wustl.edu	37	chr5	140896575	140896575	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacacccggccttcctgttgGctgcaagagaagacgagaga	11	6	12	12	2	0	3	0	0	0	3	1	6	1	3	3	2	1	3	3	2	2	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr5:140896575G>A	ENST00000398557.4	-	28	3802	c.3662C>T	c.(3661-3663)gCc>gTc	p.A1221V	DIAPH1_ENST00000253811.6_Splice_Site_p.A1222V|DIAPH1_ENST00000398566.3_Splice_Site_p.A1213V|DIAPH1_ENST00000518047.1_Splice_Site_p.A1209V|DIAPH1_ENST00000389054.3_Splice_Site_p.A1218V|DIAPH1_ENST00000520569.1_Splice_Site_p.A1164V|DIAPH1_ENST00000398562.2_Splice_Site_p.A1197V|DIAPH1_ENST00000389057.5_Splice_Site_p.A1212V	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	1221	DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCTGTTGGCTGCAAGAGA	0.493																																																	0													57	55	56					5																	140896575		2005	4174	6179	SO:0001630	splice_region_variant	0			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3662-1C>T	5.37:g.140896575G>A			A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.A1222V	ENST00000398557.4	37	c.3665	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871693	0.51695	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000448451;ENST00000518047	D;D;T;D;D;D;D;D	0.81659	-1.52;-1.52;-1.39;-1.52;-1.52;-1.52;-1.52;-1.52	5.19	-1.56	0.08532	Diaphanous autoregulatory (1);	0.642322	0.14062	N	0.343971	T	0.68751	0.3035	L	0.34521	1.04	0.32508	N	0.53793	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.58075	-0.7700	10	0.27785	T	0.31	.	13.5165	0.61543	0.0717:0.6296:0.2987:0.0	.	1212;1221	E9PEZ2;O60610	.;DIAP1_HUMAN	V	1218;1164;1197;1212;1213;1221;1222;84;1209	ENSP00000373706:A1218V;ENSP00000429282:A1164V;ENSP00000381570:A1197V;ENSP00000373709:A1212V;ENSP00000381572:A1213V;ENSP00000381565:A1221V;ENSP00000253811:A1222V;ENSP00000428268:A1209V	ENSP00000253811:A1222V	A	-	2	0	DIAPH1	140876759	1.000000	0.71417	0.980000	0.43619	0.972000	0.66771	0.329000	0.19698	-0.528000	0.06366	0.563000	0.77884	GCC	DIAPH1	-	NULL	ENSG00000131504		0.493	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		-	0	27	0	G	NM_005219	Missense_Mutation	140896575	-1	tier1	-	no_errors	ENST00000253811	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.998	A	A	140896575	G	A	140896575	5	1	42	1	0	0	0	0	0	0	1	0	4532	1217	42	3	160	3	DIAPH1	5	140896575	Splice_Site	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	547788	140896575	40018685	73	10241											
TMEM14B	81853	genome.wustl.edu	37	chr6	10751375	10751375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttctaggcagcgtgcCgtccctggctgcagggctgc	3	10	13	15	2	1	0	0	0	1	0	3	0	3	0	3	3	4	4	3	3	1	3	rs554783546		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:10751375C>T	ENST00000379542.5	+	4	277	c.110C>T	c.(109-111)cCg>cTg	p.P37L	TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000481240.1_Intron|RNA5SP203_ENST00000410451.1_RNA|TMEM14B_ENST00000461342.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000467317.1_Missense_Mutation_p.P37L|TMEM14B_ENST00000379530.3_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.P37L	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	37				P -> S (in Ref. 3; AAH07080). {ECO:0000305}.		integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				GGCAGCGTGCCGTCCCTGGCT	0.547																																																	0													125	109	114					6																	10751375		2202	4300	6502	SO:0001583	missense	0			AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.110C>T	6.37:g.10751375C>T	ENSP00000368858:p.Pro37Leu		Q5THN7|Q5THN8|Q96IX7|Q9BVN8	Missense_Mutation	SNP	pfam_UPF0136_TM	p.P37L	ENST00000379542.5	37	c.110	CCDS4515.1	6	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124200	0.20959	.	.	ENSG00000137210	ENST00000472062;ENST00000379542;ENST00000475942;ENST00000467317	T;T;T	0.14391	2.51;2.51;2.51	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.83384	2.64	0.80722	D	1	B	0.15930	0.015	B	0.23275	0.045	T	0.04579	-1.0941	10	0.32370	T	0.25	.	16.2553	0.82515	0.0:1.0:0.0:0.0	.	37	Q9NUH8	TM14B_HUMAN	L	37	ENSP00000368858:P37L;ENSP00000418730:P37L;ENSP00000420658:P37L	ENSP00000368858:P37L	P	+	2	0	TMEM14B	10859361	1.000000	0.71417	0.770000	0.31555	0.003000	0.03518	5.770000	0.68873	2.236000	0.73375	0.484000	0.47621	CCG	TMEM14B	-	pfam_UPF0136_TM	ENSG00000137210		0.547	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14B	HGNC	protein_coding	OTTHUMT00000039836.1	-	0	99	0	C	NM_030969		10751375	1	tier1	-	no_errors	ENST00000379542	ensembl	human	known	74_37	missense	10.17	106	12	SNP	0.997	T	T	10751375	C	T	10751375	3	4	42	1	0	0	0	0	1	0	0	0	16111	652	23	1	120	1	TMEM14B	6	10751375	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09		10751375	160363692	74	10242											
KIF13A	63971	genome.wustl.edu	37	chr6	17764594	17764594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggtgtgttctaccGtcacctccctggggcagaat	5	13	13	10	1	2	1	1	0	1	1	3	1	3	1	3	4	1	3	3	4	2	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:17764594G>A	ENST00000259711.6	-	39	5270	c.5165C>T	c.(5164-5166)aCg>aTg	p.T1722M	KIF13A_ENST00000378814.5_Missense_Mutation_p.T1674M|KIF13A_ENST00000378816.5_Missense_Mutation_p.T1687M|KIF13A_ENST00000378826.2_Missense_Mutation_p.T1687M|KIF13A_ENST00000378843.2_Missense_Mutation_p.T1674M	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1722					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTGTTCTACCGTCACCTCCCT	0.483																																																	0													81	75	77					6																	17764594		1901	4118	6019	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5165C>T	6.37:g.17764594G>A	ENSP00000259711:p.Thr1722Met		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T1722M	ENST00000259711.6	37	c.5165	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207900	0.79240	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.76060	-0.96;1.54;-0.91;-0.99;-0.97;-0.99	5.78	5.78	0.91487	.	0.206219	0.42682	D	0.000669	T	0.76321	0.3971	L	0.34521	1.04	0.37870	D	0.930022	D;D;D;D	0.89917	0.999;1.0;0.998;0.997	P;D;P;P	0.63703	0.897;0.917;0.791;0.855	T	0.76011	-0.3115	10	0.49607	T	0.09	.	20.3754	0.98918	0.0:0.0:1.0:0.0	.	1674;1687;1722;1674	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	M	1674;726;1722;1687;1674;1687	ENSP00000368091:T1674M;ENSP00000425616:T726M;ENSP00000259711:T1722M;ENSP00000368103:T1687M;ENSP00000368120:T1674M;ENSP00000368093:T1687M	ENSP00000259711:T1722M	T	-	2	0	KIF13A	17872573	1.000000	0.71417	0.972000	0.41901	0.973000	0.67179	6.417000	0.73337	2.894000	0.99253	0.591000	0.81541	ACG	KIF13A	-	NULL	ENSG00000137177		0.483	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	-	0	149	0	G			17764594	-1	tier1	-	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	13.10	126	19	SNP	0.997	A	A	17764594	G	A	17764594	3	1	42	1	0	0	0	0	1	0	0	0	8301	1145	40	1	281	1	KIF13A	6	17764594	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	7013219	17764594	153350473	75	10243											
ABT1	29777	genome.wustl.edu	37	chr6	26598526	26598526	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggtcccacctcagcGagcacctcgcctttgagcgc	6	8	9	18	3	2	1	2	1	0	0	4	2	3	1	5	1	3	1	5	1	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:26598526G>T	ENST00000274849.1	+	3	503	c.472G>T	c.(472-474)Gag>Tag	p.E158*		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	158					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.E158*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CCACCTCAGCGAGCACCTCGC	0.542																																																	1	Substitution - Nonsense(1)	lung(1)											121	122	122					6																	26598526		2203	4300	6503	SO:0001587	stop_gained	0			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.472G>T	6.37:g.26598526G>T	ENSP00000274849:p.Glu158*			Nonsense_Mutation	SNP	NULL	p.E158*	ENST00000274849.1	37	c.472	CCDS4616.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.696983	0.96802	.	.	ENSG00000146109	ENST00000274849	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.207	17.3171	0.87227	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000274849:E158X	E	+	1	0	ABT1	26706505	1.000000	0.71417	0.982000	0.44146	0.823000	0.46562	8.557000	0.90700	2.765000	0.95021	0.563000	0.77884	GAG	ABT1	-	NULL	ENSG00000146109		0.542	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABT1	HGNC	protein_coding	OTTHUMT00000043698.1		0	49	0	G			26598526	1			no_errors	ENST00000274849	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	26598526	G	T	26598526	4	4	42	1	0	0	0	0	0	1	0	0	101	1059	37	2	482	2	ABT1	6	26598526	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	8833932	26598526	144516541	76	10244											
ZNF193	7746	genome.wustl.edu	37	chr6	28200447	28200447	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagacctgggaggtatcaCagcaggatccctcacatgga	12	6	12	11	0	2	1	2	0	0	1	3	4	3	4	2	4	2	3	2	4	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:28200447C>A	ENST00000252207.5	+	4	824	c.676C>A	c.(676-678)Cag>Aag	p.Q226K	ZSCAN9_ENST00000425468.2_Missense_Mutation_p.Q277K|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.Q226K	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	226					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGAGGTATCACAGCAGGATCC	0.468																																																	0													78	67	71					6																	28200447		2203	4300	6503	SO:0001583	missense	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.676C>A	6.37:g.28200447C>A	ENSP00000252207:p.Gln226Lys		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q226K	ENST00000252207.5	37	c.676	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256981	0.22965	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	T;T;T;T	0.06218	3.33;3.38;3.38;3.46	4.36	2.34	0.29019	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	0.999999	B;B	0.14438	0.005;0.01	B;B	0.12156	0.007;0.003	T	0.46992	-0.9151	9	0.07644	T	0.81	.	7.1322	0.25508	0.0:0.6511:0.0:0.3489	.	277;226	E7EVQ2;O15535	.;ZN193_HUMAN	K	277;226;226;255	ENSP00000404074:Q277K;ENSP00000252207:Q226K;ENSP00000433402:Q226K;ENSP00000436166:Q255K	ENSP00000252207:Q226K	Q	+	1	0	ZNF193	28308426	0.000000	0.05858	0.001000	0.08648	0.941000	0.58515	-0.147000	0.10234	0.443000	0.26582	0.655000	0.94253	CAG	ZSCAN9	-	NULL	ENSG00000137185		0.468	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZSCAN9	HGNC	protein_coding	OTTHUMT00000040183.2	-	0	43	0	C	NM_006299		28200447	1	tier1	-	no_errors	ENST00000252207	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.001	A	A	28200447	C	A	28200447	3	1	42	1	0	0	0	0	1	0	0	0	17805	479	17	3	686	3	ZNF193	6	28200447	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1601921	28200447	142914620	77	10245											
NOTCH4	4855	genome.wustl.edu	37	chr6	32188007	32188007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggggttggtgctgcattggGcatccccatggcacggctgg	4	9	18	10	1	0	0	0	0	0	0	1	0	1	0	2	7	2	6	2	7	0	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:32188007G>T	ENST00000375023.3	-	7	1352	c.1214C>A	c.(1213-1215)gCc>gAc	p.A405D		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	405	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCTGCATTGGGCATCCCCATG	0.612																																																	0													71	72	71					6																	32188007		2203	4300	6503	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1214C>A	6.37:g.32188007G>T	ENSP00000364163:p.Ala405Asp		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A405D	ENST00000375023.3	37	c.1214	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657033	0.67586	.	.	ENSG00000204301	ENST00000375023	D	0.87809	-2.3	4.16	4.16	0.48862	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.40222	N	0.001149	D	0.92603	0.7650	M	0.84585	2.705	0.80722	D	1	D;P	0.89917	1.0;0.685	D;B	0.97110	1.0;0.216	D	0.93728	0.7039	10	0.87932	D	0	.	13.9929	0.64378	0.0:0.0:1.0:0.0	.	405;405	Q6P3V5;Q99466	.;NOTC4_HUMAN	D	405	ENSP00000364163:A405D	ENSP00000364163:A405D	A	-	2	0	NOTCH4	32295985	1.000000	0.71417	0.997000	0.53966	0.561000	0.35649	9.151000	0.94674	2.133000	0.65898	0.305000	0.20034	GCC	NOTCH4	-	pirsf_Notch,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000204301		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0	44	0	G			32188007	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	T	T	32188007	G	T	32188007	3	4	42	1	0	0	0	0	1	0	0	0	10590	1203	42	3	4893	3	NOTCH4	6	32188007	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3987560	32188007	138927060	78	10246											
GPR116	221395	genome.wustl.edu	37	chr6	46839653	46839653	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaactcacaagtgtaGatgactgttgttccagacga	12	11	10	8	1	1	5	1	3	0	2	2	6	2	5	1	0	1	3	1	0	3	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:46839653G>T	ENST00000283296.7	-	11	1626	c.1338C>A	c.(1336-1338)atC>atA	p.I446I	GPR116_ENST00000456426.2_Silent_p.I304I|GPR116_ENST00000362015.4_Silent_p.I446I|GPR116_ENST00000545669.1_5'Flank|GPR116_ENST00000265417.7_Silent_p.I446I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	446	Ig-like 2.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CACAAGTGTAGATGACTGTTG	0.493																																					NSCLC(59;410 1274 8751 36715 50546)												0													180	156	164					6																	46839653		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1338C>A	6.37:g.46839653G>T			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.I446	ENST00000283296.7	37	c.1338	CCDS4919.1	6																																																																																			GPR116	-	pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt	ENSG00000069122		0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	-	0	74	0	G	NM_015234		46839653	-1	tier1	-	no_errors	ENST00000265417	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.079	T	T	46839653	G	T	46839653	2	4	42	1	0	0	0	0	0	0	0	1	6659	932	33	3		3	GPR116	6	46839653	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	14651646	46839653	124275414	79	10247											
FAM46A	55603	genome.wustl.edu	37	chr6	82459847	82459847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaaagcccctcaccaagagGttgcagtacttaagcaggcc	12	7	9	13	0	1	1	1	0	0	1	1	1	1	1	4	2	4	4	4	2	5	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:82459847G>T	ENST00000320172.6	-	3	1208	c.894C>A	c.(892-894)aaC>aaA	p.N298K	FAM46A_ENST00000369754.3_Missense_Mutation_p.N317K|FAM46A_ENST00000369756.3_Missense_Mutation_p.N379K	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	298					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCACCAAGAGGTTGCAGTACT	0.493																																																	0													53	56	55					6																	82459847		2203	4300	6503	SO:0001583	missense	0			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.894C>A	6.37:g.82459847G>T	ENSP00000318298:p.Asn298Lys		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.N317K	ENST00000320172.6	37	c.951	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	G	6.228	0.410266	0.11812	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.23348	1.91;1.91;1.91	5.95	3.21	0.36854	Domain of unknown function DUF1693 (1);	0.123208	0.85682	D	0.000000	T	0.19005	0.0456	M	0.71871	2.18	0.58432	D	0.999999	P;P	0.44139	0.77;0.827	B;B	0.44133	0.422;0.442	T	0.02004	-1.1231	10	0.66056	D	0.02	-3.158	10.6499	0.45642	0.2589:0.0:0.7411:0.0	.	298;317	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	K	317;298;379	ENSP00000358769:N317K;ENSP00000318298:N298K;ENSP00000358771:N379K	ENSP00000318298:N298K	N	-	3	2	FAM46A	82516566	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	1.831000	0.39141	0.407000	0.25591	-0.140000	0.14226	AAC	FAM46A	-	pfam_DUF1693	ENSG00000112773		0.493	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1	-	0	59	0	G			82459847	-1	tier1	-	no_errors	ENST00000369754	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	82459847	G	T	82459847	3	4	42	1	0	0	0	0	1	0	0	0	5587	1252	44	3	438	3	FAM46A	6	82459847	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	35620194	82459847	88655220	80	10248											
GABRR2	2570	genome.wustl.edu	37	chr6	89977400	89977400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaaaagatagctaccaGtgctgctgtagaaggccagc	12	7	13	9	0	0	2	0	0	0	2	0	2	0	2	2	2	5	5	2	2	6	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:89977400G>T	ENST00000402938.3	-	6	867	c.734C>A	c.(733-735)aCt>aAt	p.T245N	GABRR2_ENST00000602808.1_5'Flank|GABRR2_ENST00000602399.1_Missense_Mutation_p.T270N	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	245					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATAGCTACCAGTGCTGCTGTA	0.403																																																	0													98	100	100					6																	89977400		2203	4300	6503	SO:0001583	missense	0				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4091	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 2"	137162	"gamma-aminobutyric acid (GABA) receptor, rho 2"			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.734C>A	6.37:g.89977400G>T	ENSP00000386029:p.Thr245Asn		A2BDE4|Q9H153	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T270N	ENST00000402938.3	37	c.809	CCDS5020.3	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327243	0.81690	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.92738	3.34	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.87521	0.2446	8	.	.	.	.	19.9417	0.97165	0.0:0.0:1.0:0.0	.	270	P28476	GBRR2_HUMAN	N	270	.	.	T	-	2	0	GABRR2	90034119	1.000000	0.71417	0.969000	0.41365	0.692000	0.40212	9.476000	0.97823	2.720000	0.93068	0.655000	0.94253	ACT	GABRR2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000111886		0.403	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	GABRR2	HGNC	protein_coding	OTTHUMT00000041482.3		0	99	0	G			89977400	-1			no_errors	ENST00000602399	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	89977400	G	T	89977400	3	4	42	1	0	0	0	0	1	0	0	0	6201	1029	36	3	679	3	GABRR2	6	89977400	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	7517553	89977400	81137667	81	10249											
EPHA7	2045	genome.wustl.edu	37	chr6	94120570	94120570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcatctttctttcacCaaggtcaccttgggtaaaac	11	13	6	11	0	5	0	3	0	2	0	5	0	5	0	2	2	2	2	2	2	4	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:94120570C>A	ENST00000369303.4	-	3	665	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	EPHA7_ENST00000369297.1_Missense_Mutation_p.G161C	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	161	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTCTTTCACCAAGGTCACCT	0.408																																																	0													133	133	133					6																	94120570		2203	4300	6503	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.481G>T	6.37:g.94120570C>A	ENSP00000358309:p.Gly161Cys		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G161C	ENST00000369303.4	37	c.481	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296965	0.81025	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.03889	3.77;3.77	5.32	5.32	0.75619	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	T	0.14008	-1.0488	10	0.87932	D	0	.	19.4211	0.94721	0.0:1.0:0.0:0.0	.	161;161;161;161	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	C	161	ENSP00000358309:G161C;ENSP00000358303:G161C	ENSP00000358303:G161C	G	-	1	0	EPHA7	94177291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.676000	0.91093	0.650000	0.86243	GGT	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000135333		0.408	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	-	0	54	0	C			94120570	-1	tier1	-	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	94120570	C	A	94120570	3	1	42	1	0	0	0	0	1	0	0	0	5188	594	21	3	2575	3	EPHA7	6	94120570	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	4143170	94120570	76994497	82	10250											
TRDN	10345	genome.wustl.edu	37	chr6	123714810	123714810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttgtttggtttcagaaGcttttcccggctcttggaat	5	17	9	10	1	2	1	1	0	1	1	4	2	4	2	2	3	1	4	2	3	2	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:123714810G>T	ENST00000398178.3	-	13	1085	c.1064C>A	c.(1063-1065)gCt>gAt	p.A355D	TRDN_ENST00000334268.4_Missense_Mutation_p.A355D	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	355					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GGTTTCAGAAGCTTTTCCCGG	0.318																																																	0													96	85	88					6																	123714810		1793	4057	5850	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1064C>A	6.37:g.123714810G>T	ENSP00000381240:p.Ala355Asp		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.A355D	ENST00000398178.3	37	c.1064	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026293	0.35701	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.63096	-0.02;-0.02	5.24	2.42	0.29668	.	1.234480	0.05796	N	0.611292	T	0.19927	0.0479	N	0.14661	0.345	0.21416	N	0.999696	B;B;B	0.32245	0.361;0.361;0.361	B;B;B	0.27500	0.08;0.08;0.08	T	0.15521	-1.0434	10	0.23891	T	0.37	1.9892	7.1218	0.25448	0.1518:0.14:0.7081:0.0	.	355;356;355	Q5SWK9;Q8IVK2;Q13061	.;.;TRDN_HUMAN	D	355;357;355	ENSP00000381240:A355D;ENSP00000333984:A355D	ENSP00000333984:A355D	A	-	2	0	TRDN	123756509	0.906000	0.30813	0.025000	0.17156	0.699000	0.40488	1.022000	0.30052	0.277000	0.22141	0.563000	0.77884	GCT	TRDN	-	NULL	ENSG00000186439		0.318	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding			0	56	0	G			123714810	-1			no_errors	ENST00000398178	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.310	T	T	123714810	G	T	123714810	3	4	42	1	0	0	0	0	1	0	0	0	16516	971	34	3	1241	3	TRDN	6	123714810	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	29594240	123714810	47400257	83	10251											
WDR27	253769	genome.wustl.edu	37	chr6	170043854	170043854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagtaacagatggttggcCaacccacaggccagccactg	12	5	11	13	1	0	1	0	0	0	1	0	2	0	1	4	3	3	2	4	3	2	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr6:170043854C>T	ENST00000448612.1	-	17	1795	c.1686G>A	c.(1684-1686)ttG>ttA	p.L562L	WDR27_ENST00000423258.1_Silent_p.L435L|WDR27_ENST00000333572.6_Silent_p.L562L|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	532						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GATGGTTGGCCAACCCACAGG	0.418																																																	0													49	54	52					6																	170043854		1873	4093	5966	SO:0001819	synonymous_variant	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1686G>A	6.37:g.170043854C>T			A5PLM8|C9JGV0|Q5T066	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L562	ENST00000448612.1	37	c.1686	CCDS47520.2	6																																																																																			WDR27	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000184465		0.418	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	-	0	34	0	C	NM_182552		170043854	-1	tier1	-	no_errors	ENST00000448612	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.867	T	T	170043854	C	T	170043854	2	4	42	1	0	0	0	0	0	0	0	1	17333	593	21	3		3	WDR27	6	170043854	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	46329044	170043854	1071213	84	10252											
KLHL7	55975	genome.wustl.edu	37	chr7	23164708	23164708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcagtctttgctggatgCagcaaaccaatatcagattg	11	13	9	8	0	3	1	2	0	1	1	3	2	3	2	1	1	4	4	1	1	3	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:23164708C>T	ENST00000339077.5	+	4	602	c.359C>T	c.(358-360)gCa>gTa	p.A120V	KLHL7_ENST00000322275.5_Missense_Mutation_p.A120V|KLHL7_ENST00000545443.1_Missense_Mutation_p.A98V|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.A72V|KLHL7_ENST00000410047.1_Missense_Mutation_p.A98V|KLHL7_ENST00000545771.1_Missense_Mutation_p.A98V|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.A44V|KLHL7_ENST00000322231.7_Missense_Mutation_p.A98V	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	120					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGCTGGATGCAGCAAACCAA	0.313																																																	0													96	98	97					7																	23164708		2202	4299	6501	SO:0001583	missense	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.359C>T	7.37:g.23164708C>T	ENSP00000343273:p.Ala120Val		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A120V	ENST00000339077.5	37	c.359	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596653	0.86953	.	.	ENSG00000122550	ENST00000322231;ENST00000339077;ENST00000322275;ENST00000539124;ENST00000409689;ENST00000410047;ENST00000545771;ENST00000545443	T;T;T;T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.78	5.78	0.91487	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86867	0.6036	M	0.76170	2.325	0.80722	D	1	D;P;P;D;D	0.71674	0.998;0.757;0.518;0.998;0.998	D;B;B;D;D	0.80764	0.994;0.333;0.103;0.994;0.994	D	0.86688	0.1921	10	0.66056	D	0.02	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	98;120;98;120;98	F5GYE2;Q8IXQ5;Q8IXQ5-2;Q8IXQ5-3;Q8IXQ5-4	.;KLHL7_HUMAN;.;.;.	V	98;120;120;44;72;98;98;98	ENSP00000322958:A98V;ENSP00000343273:A120V;ENSP00000323270:A120V;ENSP00000441136:A44V;ENSP00000386263:A72V;ENSP00000386999:A98V;ENSP00000446445:A98V;ENSP00000442366:A98V	ENSP00000322958:A98V	A	+	2	0	KLHL7	23131233	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.228000	0.78079	2.894000	0.99253	0.655000	0.94253	GCA	KLHL7	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.313	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	-	0	56	0	C	NM_018846		23164708	1	tier1	-	no_errors	ENST00000339077	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	23164708	C	T	23164708	3	4	42	1	0	0	0	0	1	0	0	0	8421	710	25	3	373	3	KLHL7	7	23164708	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09		23164708	135973955	85	10253											
NOD1	10392	genome.wustl.edu	37	chr7	30492172	30492172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtccgagtgcagctcGtccaggccatcgaaggtgaa	10	7	12	12	3	0	1	0	1	0	0	5	3	3	1	4	2	2	2	4	2	3	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:30492172G>A	ENST00000222823.4	-	6	1386	c.861C>T	c.(859-861)gaC>gaT	p.D287D	NOD1_ENST00000423334.2_Missense_Mutation_p.T242M	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	287	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGTGCAGCTCGTCCAGGCCAT	0.652																																																	0													45	45	45					7																	30492172		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.861C>T	7.37:g.30492172G>A			B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.T242M	ENST00000222823.4	37	c.725	CCDS5427.1	7	.	.	.	.	.	.	.	.	.	.	G	7.020	0.558505	0.13436	.	.	ENSG00000106100	ENST00000423334	.	.	.	5.65	0.553	0.17235	.	.	.	.	.	T	0.36468	0.0968	.	.	.	0.26245	N	0.978804	B	0.21753	0.06	B	0.10450	0.005	T	0.29305	-1.0016	7	0.87932	D	0	.	9.9931	0.41883	0.5768:0.0:0.4232:0.0	.	242	B4DTU3	.	M	242	.	ENSP00000409416:T242M	T	-	2	0	NOD1	30458697	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	0.840000	0.27600	-0.184000	0.10567	-0.244000	0.11960	ACG	NOD1	-	NULL	ENSG00000106100		0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	-	0	79	0	G			30492172	-1	tier1	-	no_errors	ENST00000423334	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.982	A	A	30492172	G	A	30492172	2	1	42	1	0	0	0	0	0	0	0	1	10555	1136	40	1		1	NOD1	7	30492172	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	7327464	30492172	128646491	86	10254											
GCK	2645	genome.wustl.edu	37	chr7	44189585	44189585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacccctctccgtttgatagCgtctcgcagaagccccacga	8	8	8	17	4	2	2	0	1	2	1	4	3	2	2	5	0	2	2	5	0	2	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:44189585C>T	ENST00000403799.3	-	5	1031	c.562G>A	c.(562-564)Gct>Act	p.A188T	GCK_ENST00000437084.1_Missense_Mutation_p.A171T|GCK_ENST00000345378.2_Missense_Mutation_p.A189T|GCK_ENST00000395796.3_Missense_Mutation_p.A187T	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	188	Hexokinase type-1.		A -> T (in MODY2; large increase in Km for glucose). {ECO:0000269|PubMed:8325892}.		calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGTTTGATAGCGTCTCGCAGA	0.637																																																	0			GRCh37	CM930299	GCK	M							105	94	97					7																	44189585		2203	4300	6503	SO:0001583	missense	0			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"maturity onset diabetes of the young 2"	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.562G>A	7.37:g.44189585C>T	ENSP00000384247:p.Ala188Thr		A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.A189T	ENST00000403799.3	37	c.565	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.560669	0.96527	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98633	-5.04;-5.04;-5.04;-5.04	5.83	5.83	0.93111	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.988;0.996	D	0.99194	1.0871	10	0.72032	D	0.01	-41.4636	19.7478	0.96258	0.0:1.0:0.0:0.0	.	188;189;187	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	T	188;187;189;171	ENSP00000384247:A188T;ENSP00000379142:A187T;ENSP00000223366:A189T;ENSP00000402840:A171T	ENSP00000223366:A189T	A	-	1	0	GCK	44156110	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	4.970000	0.63742	2.763000	0.94921	0.563000	0.77884	GCT	GCK	-	pfam_Hexokinase_N	ENSG00000106633		0.637	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	HGNC	protein_coding	OTTHUMT00000251069.2		0	23	0	C			44189585	-1			no_errors	ENST00000345378	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	44189585	C	T	44189585	3	4	42	1	0	0	0	0	1	0	0	0	6318	768	27	1	859	1	GCK	7	44189585	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	13697413	44189585	114949078	87	10255											
ZNF736	728927	genome.wustl.edu	37	chr7	63808652	63808652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggccttcatcaatgtttGtcagctacccatagcaaaac	13	11	6	11	0	3	0	3	0	0	0	3	0	3	0	2	1	4	3	2	1	6	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:63808652G>A	ENST00000423484.2	+	4	533	c.411G>A	c.(409-411)ttG>ttA	p.L137L	ZNF736_ENST00000355095.4_Silent_p.L137L			B4DX44	ZN736_HUMAN	zinc finger protein 736	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ATCAATGTTTGTCAGCTACCC	0.373																																																	0													151	124	132					7																	63808652		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.411G>A	7.37:g.63808652G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L137	ENST00000423484.2	37	c.411	CCDS55114.1	7																																																																																			ZNF736	-	NULL	ENSG00000234444		0.373	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	HGNC	protein_coding	OTTHUMT00000344559.2	-	0	69	0	G	NM_001170905		63808652	1	tier1	-	no_errors	ENST00000355095	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.002	A	A	63808652	G	A	63808652	2	1	42	1	0	0	0	0	0	0	0	1	18173	1368	48	3		3	ZNF736	7	63808652	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	19619067	63808652	95330011	88	10256											
FKBP6	8468	genome.wustl.edu	37	chr7	72742619	72742619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggatgctggacatctcGggggaccggggcgtgctgaa	8	6	18	9	3	1	2	0	1	1	1	2	5	1	5	1	6	2	2	1	6	1	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:72742619G>A	ENST00000252037.4	+	2	168	c.99G>A	c.(97-99)tcG>tcA	p.S33S	FKBP6_ENST00000413573.2_Silent_p.S33S|FKBP6_ENST00000431982.2_Silent_p.S28S|TRIM50_ENST00000333149.2_5'Flank|TRIM50_ENST00000493498.1_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	33					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGACATCTCGGGGGACCGGG	0.632																																																	0													6	6	6					7																	72742619		1867	3900	5767	SO:0001819	synonymous_variant	0			AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"FK506 binding protein 6 (36kD)", "peptidylprolyl cis-trans isomerase", "rotamase", "immunophilin FKBP36"	604839	"FK506-binding protein 6 (36kD)"			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.99G>A	7.37:g.72742619G>A			B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Silent	SNP	pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.S33	ENST00000252037.4	37	c.99	CCDS43595.1	7																																																																																			FKBP6	-	NULL	ENSG00000077800		0.632	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP6	HGNC	protein_coding	OTTHUMT00000318723.1	-	0	33	0	G	NM_003602		72742619	1	tier1	-	no_errors	ENST00000252037	ensembl	human	known	74_37	silent	13.46	45	7	SNP	0.013	A	A	72742619	G	A	72742619	2	1	42	1	0	0	0	0	0	0	0	1	5934	1103	39	1		1	FKBP6	7	72742619	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	8933967	72742619	86396044	89	10257											
LAT2	7462	genome.wustl.edu	37	chr7	73638368	73638368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcaggagggcataGgtggcctctgcagaggggac	8	5	18	10	0	1	1	0	0	1	1	1	3	1	3	2	6	3	3	2	6	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:73638368G>A	ENST00000460943.1	+	12	1358	c.469G>A	c.(469-471)Ggt>Agt	p.G157S	LAT2_ENST00000344995.5_Missense_Mutation_p.G157S|LAT2_ENST00000398475.1_Missense_Mutation_p.G157S|LAT2_ENST00000275635.7_Missense_Mutation_p.G157S	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGAGGGCATAGGTGGCCTCTG	0.622																																																	0													41	49	46					7																	73638368		1979	4165	6144	SO:0001583	missense	0			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"linker for activation of B cells", "non-T cell activation linker", "linker for activation of T cells, transmembrane adaptor 2"	605719	"Williams-Beuren syndrome chromosome region 5"	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.469G>A	7.37:g.73638368G>A	ENSP00000420494:p.Gly157Ser		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	NULL	p.G157S	ENST00000460943.1	37	c.469	CCDS5566.2	7	.	.	.	.	.	.	.	.	.	.	G	7.564	0.665394	0.14710	.	.	ENSG00000086730	ENST00000344995;ENST00000460943;ENST00000398475;ENST00000275635	T;T;T;T	0.03580	3.88;3.88;3.88;3.88	2.75	1.81	0.25067	.	.	.	.	.	T	0.03783	0.0107	N	0.14661	0.345	0.09310	N	1	P	0.48694	0.914	P	0.47744	0.556	T	0.45585	-0.9251	9	0.87932	D	0	.	7.8631	0.29522	0.0:0.2595:0.7404:0.0	.	157	Q9GZY6	NTAL_HUMAN	S	157	ENSP00000344881:G157S;ENSP00000420494:G157S;ENSP00000381492:G157S;ENSP00000275635:G157S	ENSP00000275635:G157S	G	+	1	0	LAT2	73276304	0.000000	0.05858	0.004000	0.12327	0.019000	0.09904	-0.199000	0.09491	0.414000	0.25790	0.491000	0.48974	GGT	LAT2	-	NULL	ENSG00000086730		0.622	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LAT2	HGNC	protein_coding	OTTHUMT00000277062.1	-	0	65	0	G			73638368	1	tier1	-	no_errors	ENST00000275635	ensembl	human	known	74_37	missense	9.80	45	5	SNP	0.004	A	A	73638368	G	A	73638368	3	1	42	1	0	0	0	0	1	0	0	0	8673	1000	35	3	507	3	LAT2	7	73638368	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	895749	73638368	85500295	90	10258											
SAMD9L	219285	genome.wustl.edu	37	chr7	92763145	92763145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttaagcttttcataacTgtcccttttaacaaaatctg	12	17	3	9	0	3	0	1	0	2	0	4	0	4	0	1	0	3	1	1	0	5	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:92763145T>C	ENST00000318238.4	-	5	3356	c.2140A>G	c.(2140-2142)Agt>Ggt	p.S714G	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S714G|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S714G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	714					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCATAACTGTCCCTTTTA	0.353																																																	0													59	61	60					7																	92763145		2203	4297	6500	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2140A>G	7.37:g.92763145T>C	ENSP00000326247:p.Ser714Gly		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.S714G	ENST00000318238.4	37	c.2140	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	T	3.488	-0.104536	0.06967	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.22134	1.97;1.97;1.97	4.73	2.1	0.27182	.	1.079380	0.07096	N	0.839575	T	0.16257	0.0391	L	0.44542	1.39	0.09310	N	1	B	0.28933	0.228	B	0.27796	0.083	T	0.33033	-0.9884	10	0.30854	T	0.27	0.2933	2.7676	0.05324	0.135:0.0795:0.2789:0.5066	.	714	Q8IVG5	SAM9L_HUMAN	G	714	ENSP00000326247:S714G;ENSP00000405760:S714G;ENSP00000408796:S714G	ENSP00000326247:S714G	S	-	1	0	SAMD9L	92601081	0.000000	0.05858	0.045000	0.18777	0.509000	0.34042	-0.124000	0.10595	0.810000	0.34279	0.378000	0.23410	AGT	SAMD9L	-	NULL	ENSG00000177409		0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	53	0	T	NM_152703		92763145	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.001	C	C	92763145	T	C	92763145	3	2	42	1	0	0	0	0	1	0	0	0	13872	1580	55	4	2618	4	SAMD9L	7	92763145	Missense_Mutation	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	19124777	92763145	66375518	91	10259											
DLX5	1749	genome.wustl.edu	37	chr7	96650277	96650277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactgcggcgagttacacGccattgggtcgctggagctg	7	8	16	10	4	0	1	0	0	0	1	1	4	0	2	1	3	3	3	1	3	1	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:96650277G>T	ENST00000222598.4	-	3	1114	c.641C>A	c.(640-642)gCg>gAg	p.A214E	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	214					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGAGTTACACGCCATTGGGTC	0.597																																																	0													71	69	69					7																	96650277		2203	4300	6503	SO:0001583	missense	0				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"Homeoboxes / ANTP class : NKL subclass"	2918	protein-coding gene	gene with protein product		600028	"distal-less homeo box 5"			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.641C>A	7.37:g.96650277G>T	ENSP00000222598:p.Ala214Glu		B7Z4P3|Q9UPL1	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.A214E	ENST00000222598.4	37	c.641	CCDS5647.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112386	0.77210	.	.	ENSG00000105880	ENST00000222598	D	0.89939	-2.59	5.08	5.08	0.68730	.	0.051938	0.85682	D	0.000000	D	0.91713	0.7380	M	0.80616	2.505	0.80722	D	1	P	0.46064	0.872	P	0.47346	0.544	D	0.91942	0.5564	10	0.46703	T	0.11	-9.1488	18.6767	0.91531	0.0:0.0:1.0:0.0	.	214	P56178	DLX5_HUMAN	E	214	ENSP00000222598:A214E	ENSP00000222598:A214E	A	-	2	0	DLX5	96488213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.702000	0.84576	2.640000	0.89533	0.655000	0.94253	GCG	DLX5	-	NULL	ENSG00000105880		0.597	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX5	HGNC	protein_coding	OTTHUMT00000334371.2		0	68	0	G			96650277	-1			no_errors	ENST00000222598	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	96650277	G	T	96650277	3	4	42	1	0	0	0	0	1	0	0	0	4588	1087	38	2	232	2	DLX5	7	96650277	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3887132	96650277	62488386	92	10260											
CNPY4	245812	genome.wustl.edu	37	chr7	99717419	99717419	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttttggccgtgcacGaggcttgggctgggatgttg	3	15	15	8	2	0	0	0	0	0	0	1	2	1	1	2	4	1	4	2	4	0	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:99717419G>T	ENST00000262932.3	+	1	184	c.52G>T	c.(52-54)Gag>Tag	p.E18*	TAF6_ENST00000344095.4_5'Flank|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_5'Flank|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_5'Flank|TAF6_ENST00000437822.2_5'UTR|TAF6_ENST00000453269.2_5'Flank	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	18						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCGTGCACGAGGCTTGGGC	0.532																																																	0													215	194	201					7																	99717419		2203	4300	6503	SO:0001587	stop_gained	0			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.52G>T	7.37:g.99717419G>T	ENSP00000262932:p.Glu18*		Q8WUN9	Nonsense_Mutation	SNP	pfam_DUF3456	p.E18*	ENST00000262932.3	37	c.52	CCDS34701.1	7	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100038	0.56183	.	.	ENSG00000166997	ENST00000262932	.	.	.	4.91	3.1	0.35709	.	0.819399	0.11488	N	0.559006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-4.6607	6.7073	0.23258	0.2058:0.0:0.7942:0.0	.	.	.	.	X	18	.	ENSP00000262932:E18X	E	+	1	0	CNPY4	99555355	0.011000	0.17503	0.007000	0.13788	0.115000	0.19883	0.154000	0.16343	1.434000	0.47414	0.462000	0.41574	GAG	CNPY4	-	NULL	ENSG00000166997		0.532	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY4	HGNC	protein_coding	OTTHUMT00000337224.4		0	70	0	G	NM_152755		99717419	1			no_errors	ENST00000262932	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.004	T	T	99717419	G	T	99717419	4	4	42	1	0	0	0	0	0	1	0	0	3637	1059	37	2	54	2	CNPY4	7	99717419	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3067142	99717419	59421244	93	10261											
SLC26A3	1811	genome.wustl.edu	37	chr7	107408329	107408329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcaaaaaattcatacCggttaagcttctcaatgaag	16	10	5	10	1	3	1	3	1	1	0	4	1	3	1	2	1	2	2	2	1	7	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:107408329C>T	ENST00000340010.5	-	19	2271	c.2087G>A	c.(2086-2088)cGg>cAg	p.R696Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R583Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	696	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAATTCATACCGGTTAAGCTT	0.333																																																	0													76	78	77					7																	107408329		2202	4300	6502	SO:0001583	missense	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2087G>A	7.37:g.107408329C>T	ENSP00000345873:p.Arg696Gln			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.R696Q	ENST00000340010.5	37	c.2087	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	C	5.478	0.273270	0.10403	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.87809	-2.3;-2.3	5.1	2.34	0.29019	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.376804	0.29830	N	0.011098	T	0.80144	0.4569	L	0.43923	1.385	0.09310	N	0.999997	B;B	0.24823	0.098;0.112	B;B	0.16289	0.008;0.015	T	0.66858	-0.5817	10	0.38643	T	0.18	.	10.28	0.43534	0.0:0.7868:0.0:0.2132	.	583;696	G5E9U3;P40879	.;S26A3_HUMAN	Q	583;696	ENSP00000415817:R583Q;ENSP00000345873:R696Q	ENSP00000345873:R696Q	R	-	2	0	SLC26A3	107195565	0.440000	0.25618	0.381000	0.26106	0.063000	0.16089	0.856000	0.27818	0.325000	0.23359	0.467000	0.42956	CGG	SLC26A3	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000091138		0.333	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0	26	0	C	NM_000111		107408329	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.425	T	T	107408329	C	T	107408329	3	4	42	1	0	0	0	0	1	0	0	0	14563	652	23	1	219	1	SLC26A3	7	107408329	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	7690910	107408329	51730334	94	10262											
TRYX3	136541	genome.wustl.edu	37	chr7	141952333	141952333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcacaatgcccacacacaGcatattttccgtgatgttgt	10	12	8	11	1	0	1	0	1	0	0	1	1	1	1	2	1	2	3	2	1	2	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:141952333G>T	ENST00000552471.1	-	4	854	c.535C>A	c.(535-537)Ctg>Atg	p.L179M	PRSS58_ENST00000547058.2_Missense_Mutation_p.L179M			Q8IYP2	PRS58_HUMAN	protease, serine, 58	179	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CCCACACACAGCATATTTTCC	0.448																																																	0													177	160	166					7																	141952333		2203	4300	6503	SO:0001583	missense	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.535C>A	7.37:g.141952333G>T	ENSP00000446916:p.Leu179Met		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L179M	ENST00000552471.1	37	c.535	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315109	0.23908	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.90385	-2.66;-2.66	4.35	-4.89	0.03103	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.83207	0.5204	L	0.46614	1.455	0.25967	N	0.982548	B	0.26635	0.155	B	0.26310	0.068	T	0.69525	-0.5122	9	0.44086	T	0.13	.	4.5561	0.12136	0.3522:0.0:0.1907:0.457	.	179	Q8IYP2	PRS58_HUMAN	M	179	ENSP00000447588:L179M;ENSP00000446916:L179M	ENSP00000307206:L179M	L	-	1	2	PRSS58	141598811	0.401000	0.25303	0.674000	0.29902	0.665000	0.39181	-1.084000	0.03393	-1.010000	0.03396	0.655000	0.94253	CTG	PRSS58	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000258223		0.448	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2		0	47	0	G	NM_001001317		141952333	-1			no_errors	ENST00000547058	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.803	T	T	141952333	G	T	141952333	3	4	42	1	0	0	0	0	1	0	0	0	16652	962	34	3	198	3	TRYX3	7	141952333	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	34544004	141952333	17186330	95	10263											
ZNF775	285971	genome.wustl.edu	37	chr7	150093717	150093717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatatttcagcagcaccggGgcctcccgccacgccagacc	9	5	9	18	3	1	1	1	0	0	1	2	1	2	1	6	2	2	2	6	2	1	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr7:150093717G>A	ENST00000329630.5	+	3	255	c.148G>A	c.(148-150)Ggc>Agc	p.G50S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	50					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCACCGGGGCCTCCCGCC	0.672																																																	0													11	15	14					7																	150093717		1978	4136	6114	SO:0001583	missense	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"Zinc fingers, C2H2-type"	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.148G>A	7.37:g.150093717G>A	ENSP00000330838:p.Gly50Ser		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G50S	ENST00000329630.5	37	c.148	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	6.386	0.439286	0.12104	.	.	ENSG00000196456	ENST00000478789;ENST00000329630;ENST00000490973	T;T;T	0.08720	3.94;3.06;3.26	4.74	-1.49	0.08718	.	.	.	.	.	T	0.05823	0.0152	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37798	-0.9690	9	0.66056	D	0.02	.	9.7292	0.40350	0.4898:0.0:0.5102:0.0	.	50	Q96BV0	ZN775_HUMAN	S	50	ENSP00000419336:G50S;ENSP00000330838:G50S;ENSP00000417483:G50S	ENSP00000330838:G50S	G	+	1	0	ZNF775	149724650	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.083000	0.14871	-0.229000	0.09854	0.561000	0.74099	GGC	ZNF775	-	NULL	ENSG00000196456		0.672	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1		0	39	0	G	NM_173680		150093717	1			no_errors	ENST00000329630	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	A	A	150093717	G	A	150093717	3	1	42	1	0	0	0	0	1	0	0	0	18196	1232	43	3	154	3	ZNF775	7	150093717	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	8141384	150093717	9044946	96	10264											
FAM160B2	64760	genome.wustl.edu	37	chr8	21957265	21957265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcacagccatgctgcGccagcttcgctcccctgcgc	4	8	8	21	3	1	0	1	0	0	0	4	0	3	0	6	0	5	3	6	0	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr8:21957265G>A	ENST00000289921.7	+	10	1248	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	401										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GCCATGCTGCGCCAGCTTCGC	0.667																																																	0													47	53	51					8																	21957265		2091	4216	6307	SO:0001583	missense	0			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1202G>A	8.37:g.21957265G>A	ENSP00000289921:p.Arg401His		B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.R401H	ENST00000289921.7	37	c.1202	CCDS6021.2	8	.	.	.	.	.	.	.	.	.	.	.	15.72	2.918050	0.52546	.	.	ENSG00000158863	ENST00000289921	T	0.34072	1.38	5.64	4.66	0.58398	.	0.113303	0.64402	D	0.000019	T	0.17492	0.0420	N	0.10809	0.05	0.44798	D	0.997805	B	0.22746	0.074	B	0.21708	0.036	T	0.09079	-1.0691	10	0.35671	T	0.21	-24.5898	5.2272	0.15401	0.2355:0.0:0.7645:0.0	.	401	Q86V87	F16B2_HUMAN	H	401	ENSP00000289921:R401H	ENSP00000289921:R401H	R	+	2	0	FAM160B2	22013210	0.998000	0.40836	1.000000	0.80357	0.939000	0.58152	2.575000	0.46025	2.664000	0.90586	0.655000	0.94253	CGC	FAM160B2	-	pfam_RetinoicA-induced_16-like	ENSG00000158863		0.667	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	-	0	48	0	G			21957265	1	tier1	-	no_errors	ENST00000289921	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	A	A	21957265	G	A	21957265	3	1	42	1	0	0	0	0	1	0	0	0	5490	1087	38	1	1039	1	FAM160B2	8	21957265	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		21957265	124406757	97	10265											
TNFRSF10A	8797	genome.wustl.edu	37	chr8	23049386	23049386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccatttcatcagcattgCatacaaggcatcccctgggc	10	9	8	14	0	2	0	2	0	0	0	3	1	3	0	3	2	3	3	3	2	2	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr8:23049386C>T	ENST00000221132.3	-	10	1292	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	RP11-1149O23.2_ENST00000518308.1_RNA	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	410	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		ATCAGCATTGCATACAAGGCA	0.532																																																	0													235	194	208					8																	23049386		2203	4300	6503	SO:0001583	missense	0			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1228G>A	8.37:g.23049386C>T	ENSP00000221132:p.Ala410Thr		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.A410T	ENST00000221132.3	37	c.1228	CCDS6039.1	8	.	.	.	.	.	.	.	.	.	.	C	8.778	0.927442	0.18056	.	.	ENSG00000104689	ENST00000221132	T	0.46451	0.87	3.43	1.12	0.20585	Death (3);DEATH-like (2);	1.754830	0.04155	N	0.321933	T	0.21062	0.0507	N	0.08118	0	0.09310	N	1	B	0.26258	0.145	B	0.20955	0.032	T	0.13388	-1.0511	10	0.27785	T	0.31	.	2.4007	0.04400	0.0:0.3197:0.3346:0.3457	.	410	O00220	TR10A_HUMAN	T	410	ENSP00000221132:A410T	ENSP00000221132:A410T	A	-	1	0	TNFRSF10A	23105331	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-0.733000	0.04898	0.030000	0.15379	0.462000	0.41574	GCA	TNFRSF10A	-	pirsf_TNFR_10,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000104689		0.532	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2		0	74	0	C	NM_003844		23049386	-1			no_errors	ENST00000221132	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.001	T	T	23049386	C	T	23049386	3	4	42	1	0	0	0	0	1	0	0	0	16327	710	25	3	182	3	TNFRSF10A	8	23049386	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1092121	23049386	123314636	98	10266											
ADRA1A	148	genome.wustl.edu	37	chr8	26721788	26721788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttccgatggatgcggagCgtcacttgctccgagtccga	6	12	12	11	5	1	0	1	0	0	0	4	5	4	2	3	2	3	1	3	2	0	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr8:26721788C>T	ENST00000519229.1	-	1	705	c.699G>A	c.(697-699)acG>acA	p.T233T	ADRA1A_ENST00000380587.1_Silent_p.T233T|ADRA1A_ENST00000380586.1_Silent_p.T233T|ADRA1A_ENST00000380572.3_Silent_p.T233T|ADRA1A_ENST00000358857.5_Silent_p.T233T|ADRA1A_ENST00000380582.3_Silent_p.T233T|ADRA1A_ENST00000354550.4_Silent_p.T233T|ADRA1A_ENST00000380573.3_Silent_p.T233T|ADRA1A_ENST00000276393.4_Silent_p.T233T|ADRA1A_ENST00000380581.2_Silent_p.T233T			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	303					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GGATGCGGAGCGTCACTTGCT	0.632																																																	0													49	46	47					8																	26721788		2203	4300	6503	SO:0001819	synonymous_variant	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.699G>A	8.37:g.26721788C>T			Q9NPY0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.T233	ENST00000519229.1	37	c.699		8																																																																																			ADRA1A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt	ENSG00000120907		0.632	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376207.1	-	0	40	0	C	NM_033303		26721788	-1	tier1	-	no_errors	ENST00000380586	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.969	T	T	26721788	C	T	26721788	2	4	42	1	0	0	0	0	0	0	0	1	334	755	27	1		1	ADRA1A	8	26721788	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	3672402	26721788	119642234	99	10267											
EFCAB1	79645	genome.wustl.edu	37	chr8	49647703	49647703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcttctgcagtttcttgCggttcatgtctggcgctcag	4	15	11	11	2	6	0	3	0	3	0	6	0	6	0	0	2	3	5	0	2	0	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr8:49647703C>T	ENST00000262103.3	-	1	88	c.8G>A	c.(7-9)cGc>cAc	p.R3H	EFCAB1_ENST00000523092.1_Missense_Mutation_p.R3H|EFCAB1_ENST00000521002.1_5'UTR|EFCAB1_ENST00000433756.1_Missense_Mutation_p.R3H	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	3							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CAGTTTCTTGCGGTTCATGTC	0.622																																																	0													154	143	147					8																	49647703		2203	4300	6503	SO:0001583	missense	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.8G>A	8.37:g.49647703C>T	ENSP00000262103:p.Arg3His		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R3H	ENST00000262103.3	37	c.8	CCDS6145.1	8	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442902	0.83993	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.72835	-0.69;-0.62;-0.69	5.04	5.04	0.67666	.	0.290949	0.34853	N	0.003630	D	0.82309	0.5009	M	0.65975	2.015	0.46927	D	0.99925	D;D	0.76494	0.999;0.999	D;P	0.74674	0.984;0.894	D	0.83601	0.0128	10	0.59425	D	0.04	.	16.2538	0.82501	0.0:1.0:0.0:0.0	.	3;3	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	H	3	ENSP00000400873:R3H;ENSP00000262103:R3H;ENSP00000430765:R3H	ENSP00000262103:R3H	R	-	2	0	EFCAB1	49810256	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	4.469000	0.60169	2.516000	0.84829	0.462000	0.41574	CGC	EFCAB1	-	NULL	ENSG00000034239		0.622	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1		0	73	0	C	NM_024593		49647703	-1			no_errors	ENST00000262103	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	49647703	C	T	49647703	3	4	42	1	0	0	0	0	1	0	0	0	4947	768	27	1	651	1	EFCAB1	8	49647703	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	22925915	49647703	96716319	100	10268											
ZFPM2	23414	genome.wustl.edu	37	chr8	106811081	106811081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaggaaaatgaagacaGtgcccatcagatttccagcc	14	7	10	10	0	2	4	2	1	0	3	3	5	3	5	3	1	2	0	3	1	3	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr8:106811081G>A	ENST00000407775.2	+	7	1119	c.869G>A	c.(868-870)aGt>aAt	p.S290N	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S158N|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S21N|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S158N|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	290					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AATGAAGACAGTGCCCATCAG	0.502																																																	0													126	131	129					8																	106811081		2085	4236	6321	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.869G>A	8.37:g.106811081G>A	ENSP00000384179:p.Ser290Asn		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S290N	ENST00000407775.2	37	c.869	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	9.395	1.076464	0.20227	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.19394	2.15;2.62;2.62;3.84	6.06	-0.663	0.11410	.	0.561397	0.21029	N	0.081363	T	0.08802	0.0218	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36163	-0.9759	10	0.16420	T	0.52	.	7.5953	0.28044	0.2979:0.2019:0.5002:0.0	.	290	Q8WW38	FOG2_HUMAN	N	290;158;158;21	ENSP00000384179:S290N;ENSP00000430757:S158N;ENSP00000428720:S158N;ENSP00000367733:S21N	ENSP00000367733:S21N	S	+	2	0	ZFPM2	106880257	0.009000	0.17119	0.059000	0.19551	0.979000	0.70002	0.628000	0.24522	-0.061000	0.13110	0.650000	0.86243	AGT	ZFPM2	-	NULL	ENSG00000169946		0.502	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1		0	63	0	G			106811081	1			no_errors	ENST00000407775	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.001	A	A	106811081	G	A	106811081	3	1	42	1	0	0	0	0	1	0	0	0	17706	1029	36	3	895	3	ZFPM2	8	106811081	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	57163378	106811081	39552941	101	10269											
GPR20	2843	genome.wustl.edu	37	chr8	142367889	142367889	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgggaaggtgccatgCagctcctcgtccagccgggc	6	6	15	14	2	0	0	0	0	0	0	3	1	2	1	5	4	4	2	5	4	1	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr8:142367889C>A	ENST00000377741.3	-	2	225	c.135G>T	c.(133-135)ctG>ctT	p.L45L	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	45					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGGTGCCATGCAGCTCCTCGT	0.662																																																	0													48	47	48					8																	142367889		2203	4300	6503	SO:0001819	synonymous_variant	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.135G>T	8.37:g.142367889C>A			Q17R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L45	ENST00000377741.3	37	c.135	CCDS34949.1	8																																																																																			GPR20	-	NULL	ENSG00000204882		0.662	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0	107	0	C	NM_005293		142367889	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	silent	11.76	104	14	SNP	0.657	A	A	142367889	C	A	142367889	2	1	42	1	0	0	0	0	0	0	0	1	6706	697	25	3		3	GPR20	8	142367889	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	35556808	142367889	3996133	102	10270											
ZFP41	286128	genome.wustl.edu	37	chr8	144332324	144332324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagacagaccacattcGccatcagagggtccacactg	13	5	9	14	1	1	3	1	0	0	3	3	3	2	3	3	1	0	1	3	1	1	1	rs562354410		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr8:144332324G>T	ENST00000330701.4	+	2	680	c.311G>T	c.(310-312)cGc>cTc	p.R104L	ZFP41_ENST00000520584.1_Missense_Mutation_p.R104L|ZFP41_ENST00000522452.1_Missense_Mutation_p.R104L	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	104					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GACCACATTCGCCATCAGAGG	0.547																																																	0													87	86	87					8																	144332324		2203	4300	6503	SO:0001583	missense	0				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.311G>T	8.37:g.144332324G>T	ENSP00000327427:p.Arg104Leu		D3DWJ5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R104L	ENST00000330701.4	37	c.311	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766784	0.31320	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.13778	2.56;2.56;2.56	3.68	-0.13	0.13498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05181	0.0138	N	0.16307	0.4	0.09310	N	1	P	0.42827	0.791	B	0.29862	0.108	T	0.39272	-0.9622	9	0.16896	T	0.51	-27.8292	6.4267	0.21773	0.5682:0.0:0.4318:0.0	.	104	Q8N8Y5	ZFP41_HUMAN	L	104	ENSP00000430465:R104L;ENSP00000327427:R104L;ENSP00000428966:R104L	ENSP00000327427:R104L	R	+	2	0	ZFP41	144403699	0.000000	0.05858	0.010000	0.14722	0.815000	0.46073	-1.671000	0.01954	-0.031000	0.13781	0.467000	0.42956	CGC	ZFP41	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181638		0.547	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	HGNC	protein_coding	OTTHUMT00000381114.2		0	40	0	G	NM_173832		144332324	1			no_errors	ENST00000330701	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.023	T	T	144332324	G	T	144332324	3	4	42	1	0	0	0	0	1	0	0	0	17697	1087	38	2	313	2	ZFP41	8	144332324	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	1964435	144332324	2031698	103	10271											
PTPRD	5789	genome.wustl.edu	37	chr9	8500858	8500858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccatttttccagctgtTccaaaaggtatttggtagtg	9	15	9	8	0	0	0	0	0	0	0	3	0	3	0	3	2	1	4	3	2	4	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr9:8500858T>C	ENST00000381196.4	-	21	2567	c.2024A>G	c.(2023-2025)gAa>gGa	p.E675G	PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.E662G|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.E675G|PTPRD_ENST00000356435.5_Missense_Mutation_p.E675G|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.E662G|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	675	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCAGCTGTTCCAAAAGGTA	0.478										TSP Lung(15;0.13)																																							0													233	218	223					9																	8500858		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2024A>G	9.37:g.8500858T>C	ENSP00000370593:p.Glu675Gly		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.E675G	ENST00000381196.4	37	c.2024	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108681	0.56291	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.42686	1.345	0.80722	D	1	P;D;B	0.76494	0.749;0.999;0.01	B;D;B	0.81914	0.288;0.995;0.071	T	0.67373	-0.5687	9	.	.	.	.	15.8599	0.79014	0.0:0.0:0.0:1.0	.	662;675;675	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	G	675;675;662;662;675	ENSP00000370593:E675G;ENSP00000348812:E675G;ENSP00000353187:E662G;ENSP00000351293:E662G;ENSP00000438164:E675G	.	E	-	2	0	PTPRD	8490858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.694000	0.84235	2.136000	0.66102	0.459000	0.35465	GAA	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	132	0	T			8500858	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	8.70	105	10	SNP	1.000	C	C	8500858	T	C	8500858	3	2	42	1	0	0	0	0	1	0	0	0	12844	1783	62	4	3874	4	PTPRD	9	8500858	Missense_Mutation	SNP	T	TCGA-JY-A939-01A-12D-A37C-09		8500858	132712573	104	10272											
NFX1	4799	genome.wustl.edu	37	chr9	33295406	33295406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaaccatgtgctaaaGaatgtggaaacgcacacagg	18	5	10	8	1	0	2	0	0	0	2	0	3	0	3	1	2	4	2	1	2	6	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr9:33295406G>T	ENST00000379540.3	+	2	1076	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	NFX1_ENST00000318524.6_Missense_Mutation_p.K338N|NFX1_ENST00000379521.4_Missense_Mutation_p.K338N	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	338					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K338N(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ATGTGCTAAAGAATGTGGAAA	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											64	62	63					9																	33295406		2203	4300	6503	SO:0001583	missense	0			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1014G>T	9.37:g.33295406G>T	ENSP00000368856:p.Lys338Asn		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.K338N	ENST00000379540.3	37	c.1014	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657214	0.47467	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.51574	0.7;0.7;0.7	5.91	3.66	0.41972	.	0.106915	0.64402	D	0.000010	T	0.62392	0.2424	M	0.72118	2.19	0.45284	D	0.998284	D;D;P;D;P	0.71674	0.998;0.99;0.572;0.998;0.858	D;P;B;D;P	0.68621	0.959;0.697;0.122;0.959;0.491	T	0.62158	-0.6913	10	0.40728	T	0.16	.	10.1027	0.42515	0.1953:0.0:0.8047:0.0	.	338;222;338;338;338	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	N	338	ENSP00000368856:K338N;ENSP00000368836:K338N;ENSP00000317695:K338N	ENSP00000317695:K338N	K	+	3	2	NFX1	33285406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.374000	0.44274	1.413000	0.46997	0.643000	0.83706	AAG	NFX1	-	NULL	ENSG00000086102		0.373	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1		0	43	0	G			33295406	1			no_errors	ENST00000379540	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	33295406	G	T	33295406	3	4	42	1	0	0	0	0	1	0	0	0	10426	933	33	3	1020	3	NFX1	9	33295406	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	24794548	33295406	107918025	105	10273											
C9orf41	138199	genome.wustl.edu	37	chr9	77632354	77632354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcggttcacccgctcatGcatactggtgctaaaacata	10	12	8	11	2	2	0	2	0	0	0	3	0	2	0	1	2	4	5	1	2	4	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr9:77632354G>A	ENST00000376834.3	-	2	393	c.241C>T	c.(241-243)Cat>Tat	p.H81Y	C9orf41_ENST00000376830.3_Missense_Mutation_p.H81Y|C9orf41_ENST00000376837.3_Missense_Mutation_p.H81Y|RP11-197P3.5_ENST00000455336.2_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	81										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						ACCCGCTCATGCATACTGGTG	0.383																																																	0													120	111	114					9																	77632354		2203	4300	6503	SO:0001583	missense	0			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.241C>T	9.37:g.77632354G>A	ENSP00000366030:p.His81Tyr		Q7Z383|Q8N7C5	Missense_Mutation	SNP	pfam_N2227	p.H81Y	ENST00000376834.3	37	c.241	CCDS6649.1	9	.	.	.	.	.	.	.	.	.	.	G	6.982	0.551238	0.13374	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153;ENST00000376830	.	.	.	6.06	6.06	0.98353	.	0.043558	0.85682	D	0.000000	T	0.33177	0.0854	N	0.20685	0.6	0.58432	D	0.999999	P	0.43826	0.818	B	0.32465	0.146	T	0.38265	-0.9669	9	0.02654	T	1	-19.2903	20.6397	0.99537	0.0:0.0:1.0:0.0	.	81	Q8N4J0	CI041_HUMAN	Y	81;81;20;81	.	ENSP00000366026:H81Y	H	-	1	0	C9orf41	76822174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.880000	0.98712	0.650000	0.86243	CAT	C9orf41	-	NULL	ENSG00000156017		0.383	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf41	HGNC	protein_coding	OTTHUMT00000052703.1		0	73	0	G	NM_152420		77632354	-1			no_errors	ENST00000376834	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	77632354	G	A	77632354	3	1	42	1	0	0	0	0	1	0	0	0	2489	1319	46	3	1016	3	C9orf41	9	77632354	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	44336948	77632354	63581077	106	10274											
GALNT12	79695	genome.wustl.edu	37	chr9	101589033	101589033	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttgtttgcctccctaGagcacctgaaggagcgcttg	6	13	11	11	1	0	2	0	1	0	1	1	3	1	3	3	1	4	4	3	1	2	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr9:101589033G>T	ENST00000375011.3	+	3	541		c.e3-1			NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TGCCTCCCTAGAGCACCTGAA	0.627																																																	0													35	33	34					9																	101589033		2203	4300	6503	SO:0001630	splice_region_variant	0			AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19877	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 12"	610290	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.542-1G>T	9.37:g.101589033G>T			Q5TCF7|Q8NG54|Q96CT9|Q9H771	Splice_Site	SNP	-	e3-1	ENST00000375011.3	37	c.542-1	CCDS6737.1	9	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188803	0.57909	.	.	ENSG00000119514	ENST00000375011	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.902	0.88907	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT12	100628854	1.000000	0.71417	0.992000	0.48379	0.345000	0.29048	9.864000	0.99589	2.814000	0.96858	0.655000	0.94253	.	GALNT12	-	-	ENSG00000119514		0.627	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT12	HGNC	protein_coding	OTTHUMT00000053382.1	-	0	36	0	G	NM_024642	Intron	101589033	1	tier1	-	no_errors	ENST00000375011	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	1.000	T	T	101589033	G	T	101589033	5	4	42	1	0	0	0	0	0	0	1	0	6235	956	33	3	551	3	GALNT12	9	101589033	Splice_Site	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	23956679	101589033	39624398	107	10275											
DAB2IP	153090	genome.wustl.edu	37	chr9	124535012	124535012	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcggaagccaacgagccTgatcttcagatggccaacgg	11	7	11	12	3	2	2	1	1	1	1	3	4	2	3	3	3	5	0	3	3	4	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr9:124535012T>C	ENST00000408936.3	+	12	2387	c.2205T>C	c.(2203-2205)ccT>ccC	p.P735P	DAB2IP_ENST00000309989.1_Silent_p.P611P|DAB2IP_ENST00000259371.2_Silent_p.P707P			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	735	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAACGAGCCTGATCTTCAGA	0.642																																																	0													39	41	40					9																	124535012		2203	4300	6503	SO:0001819	synonymous_variant	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2205T>C	9.37:g.124535012T>C			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.P735	ENST00000408936.3	37	c.2205		9																																																																																			DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.642	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1		0	66	0	T	NM_032552		124535012	1			no_errors	ENST00000408936	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.604	C	C	124535012	T	C	124535012	2	2	42	1	0	0	0	0	0	0	0	1	4228	1567	55	4		4	DAB2IP	9	124535012	Silent	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	22945979	124535012	16678419	108	10276											
C9orf9	11092	genome.wustl.edu	37	chr9	135759394	135759394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtacaagctcttccagcaGcagcagctcaccttcaccgc	11	7	7	16	1	3	0	2	0	1	0	4	0	4	0	3	0	6	6	3	0	3	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr9:135759394G>T	ENST00000372136.3	+	2	507	c.60G>T	c.(58-60)caG>caT	p.Q20H	C9orf9_ENST00000356311.5_Missense_Mutation_p.Q20H|C9orf9_ENST00000350499.6_Missense_Mutation_p.Q20H			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	20	Poly-Gln.					cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		TCTTCCAGCAGCAGCAGCTCA	0.557																																																	1	Unknown(1)	bone(1)											92	86	88					9																	135759394		2203	4300	6503	SO:0001583	missense	0				CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.60G>T	9.37:g.135759394G>T	ENSP00000361209:p.Gln20His		Q9UGQ0	Missense_Mutation	SNP	NULL	p.Q20H	ENST00000372136.3	37	c.60		9	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020382	0.75275	.	.	ENSG00000165698	ENST00000372136;ENST00000356311;ENST00000350499	T;T;T	0.58940	0.3;0.3;0.3	5.46	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.72894	2.215	0.47476	D	0.999439	D;D	0.89917	0.998;1.0	D;D	0.85130	0.994;0.997	T	0.76694	-0.2865	10	0.72032	D	0.01	-32.6764	14.2202	0.65820	0.0846:0.0:0.9154:0.0	.	20;20	Q96E40-2;Q96E40	.;CI009_HUMAN	H	20	ENSP00000361209:Q20H;ENSP00000348659:Q20H;ENSP00000298546:Q20H	ENSP00000298546:Q20H	Q	+	3	2	C9orf9	134749215	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.032000	0.41127	2.573000	0.86826	0.655000	0.94253	CAG	C9orf9	-	NULL	ENSG00000165698		0.557	C9orf9-001	KNOWN	basic	protein_coding	C9orf9	HGNC	protein_coding	OTTHUMT00000054806.1	-	0	49	0	G	NM_018956		135759394	1	tier1	-	no_errors	ENST00000356311	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	135759394	G	T	135759394	3	4	42	1	0	0	0	0	1	0	0	0	2511	962	34	3	62	3	C9orf9	9	135759394	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	11224382	135759394	5454037	109	10277											
MRPS2	51116	genome.wustl.edu	37	chr9	138392962	138392962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatccgcgagtcggaggaCagcaccggtaacactgggcg	10	5	15	11	5	0	1	0	1	0	0	2	4	1	3	2	4	2	2	2	4	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr9:138392962C>T	ENST00000371785.1	+	3	371	c.162C>T	c.(160-162)gaC>gaT	p.D54D	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000241600.5_Silent_p.D54D|C9orf116_ENST00000429260.2_5'Flank|C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	54					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AGTCGGAGGACAGCACCGGTA	0.711																																																	0													7	9	8					9																	138392962		2151	4239	6390	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.162C>T	9.37:g.138392962C>T			Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.D54	ENST00000371785.1	37	c.162	CCDS6990.1	9																																																																																			MRPS2	-	NULL	ENSG00000122140		0.711	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	-	0	32	0	C			138392962	1	tier1	-	no_errors	ENST00000241600	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.000	T	T	138392962	C	T	138392962	2	4	42	1	0	0	0	0	0	0	0	1	9869	477	17	3		3	MRPS2	9	138392962	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	2633568	138392962	2820469	110	10278											
GTPBP4	23560	genome.wustl.edu	37	chr10	1052988	1052988	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttttggctcatcgagtgGaaaccaaaatgaagggaaat	14	9	12	6	1	1	1	1	1	0	0	2	4	1	3	1	4	1	2	1	4	5	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr10:1052988G>T	ENST00000360803.4	+	10	1115	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	GTPBP4_ENST00000538293.1_Nonsense_Mutation_p.E229*|GTPBP4_ENST00000545048.1_Nonsense_Mutation_p.E298*|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	345					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TCATCGAGTGGAAACCAAAAT	0.498																																																	0													143	117	126					10																	1052988		2203	4300	6503	SO:0001587	stop_gained	0			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"G protein-binding protein CRFG", " GTP-binding protein"					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1033G>T	10.37:g.1052988G>T	ENSP00000354040:p.Glu345*		B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Nonsense_Mutation	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.E345*	ENST00000360803.4	37	c.1033	CCDS31132.1	10	.	.	.	.	.	.	.	.	.	.	G	40	8.215092	0.98709	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	.	.	.	5.47	5.47	0.80525	.	0.355410	0.35151	N	0.003417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.3461	19.7377	0.96214	0.0:0.0:1.0:0.0	.	.	.	.	X	345;229;298	.	ENSP00000354040:E345X	E	+	1	0	GTPBP4	1042988	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	5.934000	0.70138	2.733000	0.93635	0.650000	0.86243	GAA	GTPBP4	-	pfam_Fe2_transport_prot_B_N	ENSG00000107937		0.498	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	-	0	58	0	G	NM_012341		1052988	1	tier1	-	no_errors	ENST00000360803	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T	T	1052988	G	T	1052988	4	4	42	1	0	0	0	0	0	1	0	0	6909	1175	41	3	1071	3	GTPBP4	10	1052988	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		1052988	134481759	111	10279											
FAM13C	220965	genome.wustl.edu	37	chr10	61022288	61022288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaggagcttggctccGggcccgcagcttccggtttc	4	9	13	15	3	0	1	0	0	0	1	4	2	3	2	4	4	2	5	4	4	0	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr10:61022288G>T	ENST00000373868.2	-	10	1229	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	FAM13C_ENST00000442566.3_Missense_Mutation_p.P402Q|FAM13C_ENST00000435852.2_Missense_Mutation_p.P381Q|FAM13C_ENST00000468840.2_Missense_Mutation_p.P298Q|FAM13C_ENST00000373867.3_Missense_Mutation_p.P298Q|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000422313.2_Missense_Mutation_p.P381Q|FAM13C_ENST00000277705.6_Missense_Mutation_p.P402Q	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	381								p.P381L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTTGGCTCCGGGCCCGCAGC	0.542																																																	1	Substitution - Missense(1)	urinary_tract(1)											68	71	70					10																	61022288		2203	4300	6503	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1142C>A	10.37:g.61022288G>T	ENSP00000362975:p.Pro381Gln		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.P381Q	ENST00000373868.2	37	c.1142	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	G	7.505	0.653533	0.14580	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	5.93	5.02	0.67125	.	0.473844	0.21842	N	0.068318	T	0.73697	0.3620	L	0.47716	1.5	0.23681	N	0.997122	P;B;B;P	0.50272	0.933;0.001;0.089;0.887	P;B;B;P	0.49683	0.619;0.006;0.037;0.497	T	0.63559	-0.6610	10	0.17832	T	0.49	-2.7884	14.7326	0.69393	0.1395:0.0:0.8605:0.0	.	381;298;381;381	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	Q	298;381;402;402;298;381;381	ENSP00000362974:P298Q;ENSP00000362975:P381Q;ENSP00000395661:P402Q;ENSP00000277705:P402Q;ENSP00000423896:P298Q;ENSP00000392302:P381Q;ENSP00000400241:P381Q	ENSP00000277705:P402Q	P	-	2	0	FAM13C	60692294	0.771000	0.28555	1.000000	0.80357	0.201000	0.24016	2.430000	0.44766	0.862000	0.35528	-1.119000	0.02030	CCG	FAM13C	-	NULL	ENSG00000148541		0.542	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2		0	55	0	G			61022288	-1			no_errors	ENST00000373868	ensembl	human	known	74_37	missense	5.00	55	3	SNP	0.999	T	T	61022288	G	T	61022288	3	4	42	1	0	0	0	0	1	0	0	0	5473	1116	39	2	635	2	FAM13C	10	61022288	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	59969300	61022288	74512459	112	10280											
MKI67	4288	genome.wustl.edu	37	chr10	129913974	129913974	+	Frame_Shift_Del	DEL	T	T	-																															gcttccaaaagggagattcaTtttttttgctattgtcaaga																										TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr10:129913974delT	ENST00000368654.3	-	7	1073	c.698delA	c.(697-699)aatfs	p.N233fs	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	233					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGAGATTCATTTTTTTTGCT	0.343																																																	0													77	75	76					10																	129913974		2203	4300	6503	SO:0001589	frameshift_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.698delA	10.37:g.129913974delT	ENSP00000357643:p.Asn233fs		Q5VWH2	Frame_Shift_Del	DEL	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.N233fs	ENST00000368654.3	37	c.698	CCDS7659.1	10																																																																																			MKI67	-	NULL	ENSG00000148773		0.343	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0	53	0	T	NM_002417		129913974	-1	tier1		no_errors	ENST00000368654	ensembl	human	known	74_37	frame_shift_del	10.42	43	5	DEL	0.003	-	-	129913974	T	-	129913974	7	5	42	1	0	1	0	1	0	0	0	0	9636	1493	52	0	9108	0	MKI67	10	129913974	Frame_Shift_Del	DEL	T	TCGA-JY-A939-01A-12D-A37C-09	68891686	129913974	5620773	113	10281											
SWAP70	23075	genome.wustl.edu	37	chr11	9761755	9761755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagatggaagaacaggttGctcaaaagtcctctgaactg	14	8	11	8	0	2	3	1	1	1	2	3	4	3	4	1	2	4	3	1	2	5	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr11:9761755G>T	ENST00000318950.6	+	9	1319	c.1216G>T	c.(1216-1218)Gct>Tct	p.A406S	SWAP70_ENST00000447399.2_Missense_Mutation_p.A348S	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	406					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGAACAGGTTGCTCAAAAGTC	0.473																																																	0													85	79	81					11																	9761755		2201	4294	6495	SO:0001583	missense	0			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.1216G>T	11.37:g.9761755G>T	ENSP00000315630:p.Ala406Ser		D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology	p.A406S	ENST00000318950.6	37	c.1216	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205845	0.79127	.	.	ENSG00000133789	ENST00000447399;ENST00000318950	T;T	0.18016	2.24;2.24	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	L	0.29908	0.895	0.53005	D	0.999964	D;D;D	0.69078	0.996;0.997;0.997	P;P;P	0.62813	0.907;0.885;0.802	T	0.01583	-1.1319	10	0.30078	T	0.28	-9.9337	18.8651	0.92289	0.0:0.0:1.0:0.0	.	348;406;348	E7EMB1;Q9UH65;B3KUB9	.;SWP70_HUMAN;.	S	348;406	ENSP00000399056:A348S;ENSP00000315630:A406S	ENSP00000315630:A406S	A	+	1	0	SWAP70	9718331	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.476000	0.97823	2.445000	0.82738	0.591000	0.81541	GCT	SWAP70	-	NULL	ENSG00000133789		0.473	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	HGNC	protein_coding	OTTHUMT00000386766.2		0	45	0	G	NM_015055		9761755	1			no_errors	ENST00000318950	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	9761755	G	T	9761755	3	4	42	1	0	0	0	0	1	0	0	0	15472	1319	46	3	1250	3	SWAP70	11	9761755	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		9761755	125244761	114	10282											
BTBD10	84280	genome.wustl.edu	37	chr11	13410443	13410443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagggggatggatagggaGaatatccagctcatccactt	13	8	13	7	0	1	2	1	0	0	2	3	5	3	4	2	4	1	1	2	4	4	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr11:13410443G>A	ENST00000278174.5	-	9	1608	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	BTBD10_ENST00000528120.1_Missense_Mutation_p.L407F|BTBD10_ENST00000530907.1_Missense_Mutation_p.L463F	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	455	Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGGATAGGGAGAATATCCAGC	0.493																																																	0													163	133	143					11																	13410443		2200	4294	6494	SO:0001583	missense	0			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"BTB/POZ domain containing"	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.1363C>T	11.37:g.13410443G>A	ENSP00000278174:p.Leu455Phe		B7Z228|Q86WG1	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.L455F	ENST00000278174.5	37	c.1363	CCDS7811.1	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574788	0.65878	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	T;T;T	0.38887	1.13;1.11;1.17	5.03	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	L	0.36672	1.1	0.80722	D	1	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.66351	0.943;0.943;0.943	T	0.38542	-0.9656	10	0.36615	T	0.2	-25.8875	9.3832	0.38327	0.1629:0.0:0.8371:0.0	.	463;455;455	B7Z228;D3DQW7;Q9BSF8	.;.;BTBDA_HUMAN	F	455;463;407	ENSP00000278174:L455F;ENSP00000431186:L463F;ENSP00000435257:L407F	ENSP00000278174:L455F	L	-	1	0	BTBD10	13367019	1.000000	0.71417	0.606000	0.28943	0.894000	0.52154	4.786000	0.62425	1.345000	0.45676	0.555000	0.69702	CTC	BTBD10	-	NULL	ENSG00000148925		0.493	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD10	HGNC	protein_coding	OTTHUMT00000386200.1		0	45	0	G	NM_032320		13410443	-1			no_errors	ENST00000278174	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	13410443	G	A	13410443	3	1	42	1	0	0	0	0	1	0	0	0	1542	942	33	3	68	3	BTBD10	11	13410443	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3648688	13410443	121596073	115	10283											
OR5B17	219965	genome.wustl.edu	37	chr11	58126193	58126193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctgcgtagcggtcatagGccattgaggacaagaggtaa	11	8	14	8	2	1	2	1	1	0	1	1	3	1	3	1	4	3	3	1	4	4	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr11:58126193G>T	ENST00000357377.3	-	1	349	c.350C>A	c.(349-351)gCc>gAc	p.A117D		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCGGTCATAGGCCATTGAGGA	0.473																																																	0													122	109	114					11																	58126193		2201	4295	6496	SO:0001583	missense	0			AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"GPCR / Class A : Olfactory receptors"	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.350C>A	11.37:g.58126193G>T	ENSP00000349945:p.Ala117Asp		Q6IEX1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A117D	ENST00000357377.3	37	c.350	CCDS31548.1	11	.	.	.	.	.	.	.	.	.	.	g	17.91	3.503501	0.64298	.	.	ENSG00000197786	ENST00000357377	T	0.56103	0.48	3.6	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36893	U	0.002355	T	0.81138	0.4760	H	0.98866	4.355	0.31112	N	0.709867	D	0.89917	1.0	D	0.83275	0.996	T	0.82390	-0.0481	10	0.87932	D	0	-12.0866	9.5671	0.39405	0.1077:0.0:0.8923:0.0	.	117	Q8NGF7	OR5BH_HUMAN	D	117	ENSP00000349945:A117D	ENSP00000349945:A117D	A	-	2	0	OR5B17	57882769	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	6.396000	0.73234	0.723000	0.32274	0.461000	0.40582	GCC	OR5B17	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197786		0.473	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B17	HGNC	protein_coding	OTTHUMT00000394708.2		0	74	0	G	NM_001005489		58126193	-1			no_errors	ENST00000357377	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	58126193	G	T	58126193	3	4	42	1	0	0	0	0	1	0	0	0	11188	1203	42	3	596	3	OR5B17	11	58126193	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	44715750	58126193	76880323	116	10284											
INCENP	3619	genome.wustl.edu	37	chr11	61914190	61914190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggaagaggagcaggagCggctgcggaaggcggccgag	12	1	21	7	4	0	2	0	0	0	2	0	7	0	6	1	7	3	2	1	7	3	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr11:61914190C>T	ENST00000394818.3	+	15	2222	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	INCENP_ENST00000278849.4_Missense_Mutation_p.R670W	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	674					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ggagcaggagcggctgcggaa	0.692																																																	0													9	11	10					11																	61914190		1809	3388	5197	SO:0001583	missense	0			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"inner centromere protein antigens (135kD, 155kD)"			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2020C>T	11.37:g.61914190C>T	ENSP00000378295:p.Arg674Trp		A8MQD2|Q5Y192	Missense_Mutation	SNP	pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd	p.R674W	ENST00000394818.3	37	c.2020	CCDS44624.1	11	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619725	0.46736	.	.	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.18960	2.18;2.18	3.06	2.13	0.27403	.	0.329273	0.20914	N	0.083401	T	0.37732	0.1014	M	0.64997	1.995	0.45066	D	0.998084	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.985;0.994;0.985	T	0.13469	-1.0508	10	0.87932	D	0	.	7.5163	0.27602	0.2556:0.7444:0.0:0.0	.	670;670;674	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	W	674;670	ENSP00000378295:R674W;ENSP00000278849:R670W	ENSP00000278849:R670W	R	+	1	2	INCENP	61670766	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.608000	0.24223	0.840000	0.34995	0.637000	0.83480	CGG	INCENP	-	NULL	ENSG00000149503		0.692	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INCENP	HGNC	protein_coding	OTTHUMT00000394723.2		0	82	0	C	NM_020238		61914190	1			no_errors	ENST00000394818	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	61914190	C	T	61914190	3	4	42	1	0	0	0	0	1	0	0	0	7760	759	27	1	2074	1	INCENP	11	61914190	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	3787997	61914190	73092326	117	10285											
CCDC67	159989	genome.wustl.edu	37	chr11	93118682	93118682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattaaaaataggagagtGccaaaatgctcaaggaaata	20	9	8	4	0	1	1	1	0	0	1	1	3	1	2	1	2	2	1	1	2	10	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr11:93118682G>T	ENST00000298050.3	+	8	1008	c.908G>T	c.(907-909)tGc>tTc	p.C303F	CCDC67_ENST00000525646.1_Missense_Mutation_p.C45F	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	303					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATAGGAGAGTGCCAAAATGCT	0.303																																																	0													59	57	58					11																	93118682		1808	4068	5876	SO:0001583	missense	0			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.908G>T	11.37:g.93118682G>T	ENSP00000298050:p.Cys303Phe		Q8NEF1|Q96LL7	Missense_Mutation	SNP	superfamily_MHC_II-assoc_invariant_trimer	p.C303F	ENST00000298050.3	37	c.908	CCDS44707.1	11	.	.	.	.	.	.	.	.	.	.	G	4.650	0.120828	0.08881	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000525646	T;T;T;T	0.41400	2.28;2.28;1.0;2.01	5.94	-0.498	0.12019	.	1.460460	0.03740	N	0.254894	T	0.27384	0.0672	L	0.40543	1.245	0.18873	N	0.999982	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.06516	-1.0822	10	0.10111	T	0.7	.	0.444	0.00490	0.3176:0.1335:0.1602:0.3888	.	303;303;295	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	F	303;303;303;45	ENSP00000432111:C303F;ENSP00000298050:C303F;ENSP00000434635:C303F;ENSP00000435079:C45F	ENSP00000298050:C303F	C	+	2	0	CCDC67	92758330	0.000000	0.05858	0.574000	0.28523	0.955000	0.61496	-0.278000	0.08490	0.018000	0.15052	0.557000	0.71058	TGC	CCDC67	-	NULL	ENSG00000165325		0.303	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	HGNC	protein_coding		-	0	61	0	G	NM_181645		93118682	1	tier1	-	no_errors	ENST00000298050	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.447	T	T	93118682	G	T	93118682	3	4	42	1	0	0	0	0	1	0	0	0	2846	1319	46	3	934	3	CCDC67	11	93118682	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	31204492	93118682	41887834	118	10286											
ATM	472	genome.wustl.edu	37	chr11	108155199	108155199	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaacttattgggaaaacAggtatggcttcaatttttat	14	15	8	4	0	1	1	1	1	0	0	1	2	1	2	0	3	2	2	0	3	8	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr11:108155199A>G	ENST00000452508.2	+	27	4181	c.3992A>G	c.(3991-3993)cAg>cGg	p.Q1331R	ATM_ENST00000278616.4_Splice_Site_p.Q1331R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1331					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.V1292_Q1331del(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGGGAAAACAGGTATGGCTT	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											93	90	91					11																	108155199		2201	4298	6499	SO:0001630	splice_region_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3993+1A>G	11.37:g.108155199A>G			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1331R	ENST00000452508.2	37	c.3992	CCDS31669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.90|15.90	2.968976|2.968976	0.53614|0.53614	.|.	.|.	ENSG00000149311|ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508|ENST00000531525	T;T;T|.	0.72051|.	-0.62;-0.62;-0.62|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Armadillo-type fold (1);|.	0.053029|.	0.85682|.	D|.	0.000000|.	T|T	0.55386|0.55386	0.1917|0.1917	L|L	0.29908|0.29908	0.895|0.895	0.38679|0.38679	D|D	0.952498|0.952498	D|.	0.54207|.	0.965|.	P|.	0.50860|.	0.652|.	T|T	0.56189|0.56189	-0.8020|-0.8020	10|5	0.33141|.	T|.	0.24|.	.|.	15.4694|15.4694	0.75429|0.75429	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1331|.	Q13315|.	ATM_HUMAN|.	R|G	1331|1	ENSP00000435747:Q1331R;ENSP00000278616:Q1331R;ENSP00000388058:Q1331R|.	ENSP00000278616:Q1331R|.	Q|R	+|+	2|1	0|2	ATM|ATM	107660409|107660409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	6.798000|6.798000	0.75155|0.75155	2.070000|2.070000	0.61991|0.61991	0.455000|0.455000	0.32223|0.32223	CAG|AGA	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.343	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	43	0	A	NM_000051	Missense_Mutation	108155199	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	G	G	108155199	A	G	108155199	5	3	42	1	0	0	0	0	0	0	1	0	1110	202	7	4	4090	4	ATM	11	108155199	Splice_Site	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	15036517	108155199	26851317	119	10287											
CCDC77	84318	genome.wustl.edu	37	chr12	527717	527717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattgctgaattgcagaaaGctctaagtgatatgcaggtc	13	11	11	6	0	1	4	0	2	1	2	2	4	1	4	0	1	4	4	0	1	4	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:527717G>T	ENST00000239830.4	+	5	507	c.328G>T	c.(328-330)Gct>Tct	p.A110S	CCDC77_ENST00000422000.1_Missense_Mutation_p.A78S|CCDC77_ENST00000412006.2_Missense_Mutation_p.A78S|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000540180.1_Missense_Mutation_p.A78S	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	110						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			ATTGCAGAAAGCTCTAAGTGA	0.423																																																	0													166	152	157					12																	527717		2203	4300	6503	SO:0001583	missense	0			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.328G>T	12.37:g.527717G>T	ENSP00000239830:p.Ala110Ser		B4DDE8	Missense_Mutation	SNP	NULL	p.A110S	ENST00000239830.4	37	c.328	CCDS8503.1	12	.	.	.	.	.	.	.	.	.	.	g	34	5.293798	0.95546	.	.	ENSG00000120647	ENST00000540180;ENST00000422000;ENST00000543504;ENST00000239830;ENST00000412006	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62025	-0.6941	10	0.31617	T	0.26	-11.7199	19.2175	0.93783	0.0:0.0:1.0:0.0	.	110	Q9BR77	CCD77_HUMAN	S	78;78;78;110;78	ENSP00000440554:A78S;ENSP00000391870:A78S;ENSP00000445873:A78S;ENSP00000239830:A110S;ENSP00000412925:A78S	ENSP00000239830:A110S	A	+	1	0	CCDC77	397978	1.000000	0.71417	0.987000	0.45799	0.826000	0.46750	9.419000	0.97397	2.707000	0.92482	0.558000	0.71614	GCT	CCDC77	-	NULL	ENSG00000120647		0.423	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1	-	0	66	0	G	NM_032358		527717	1	tier1	-	no_errors	ENST00000239830	ensembl	human	known	74_37	missense	6.15	59	4	SNP	1.000	T	T	527717	G	T	527717	3	4	42	1	0	0	0	0	1	0	0	0	2858	971	34	3	338	3	CCDC77	12	527717	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		527717	133324178	120	10288											
ERC1	23085	genome.wustl.edu	37	chr12	1481019	1481019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaagaagctcttctggctgCcattagtgaaaaagacgcca	13	8	10	10	1	2	3	0	1	2	2	2	3	2	3	2	1	2	3	2	1	5	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:1481019C>T	ENST00000397203.2	+	16	3207	c.2801C>T	c.(2800-2802)gCc>gTc	p.A934V	ERC1_ENST00000355446.5_Missense_Mutation_p.A934V|ERC1_ENST00000546231.2_Missense_Mutation_p.A938V|ERC1_ENST00000589028.1_Missense_Mutation_p.A934V|ERC1_ENST00000360905.4_Missense_Mutation_p.A934V|ERC1_ENST00000543086.3_Missense_Mutation_p.A906V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	934					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTTCTGGCTGCCATTAGTGAA	0.483																																																	0													62	56	58					12																	1481019		2203	4300	6503	SO:0001583	missense	0			AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"RAB6 interacting protein 2"	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2801C>T	12.37:g.1481019C>T	ENSP00000380386:p.Ala934Val		A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.A934V	ENST00000397203.2	37	c.2801	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.498089	0.96355	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.62;0.36;0.36;0.36	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;1.0	D;D;D;D	0.91635	0.999;0.994;0.994;0.997	T	0.69577	-0.5108	10	0.35671	T	0.21	-12.1045	19.6853	0.95977	0.0:1.0:0.0:0.0	.	642;910;906;934	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	V	866;934;910;866;638;906;910;638;934;934;934;910;642	ENSP00000340054:A866V;ENSP00000380386:A934V;ENSP00000438546:A906V;ENSP00000442976:A638V;ENSP00000442739:A934V;ENSP00000347621:A934V;ENSP00000354158:A934V;ENSP00000410064:A910V	ENSP00000299183:A638V	A	+	2	0	ERC1	1351280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.642000	0.89623	0.655000	0.94253	GCC	ERC1	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000082805		0.483	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	HGNC	protein_coding	OTTHUMT00000398380.2	-	0	70	0	C	NM_015064		1481019	1	tier1	-	no_errors	ENST00000360905	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	1481019	C	T	1481019	3	4	42	1	0	0	0	0	1	0	0	0	5226	739	26	3	2859	3	ERC1	12	1481019	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	953302	1481019	132370876	121	10289											
C12orf59	120939	genome.wustl.edu	37	chr12	10342518	10342518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagtcggtgtttggccctGcagctcggaggatcctggct	4	11	15	11	2	0	0	0	0	0	0	3	2	1	2	2	5	3	5	2	5	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:10342518G>T	ENST00000381923.2	+	6	735	c.331G>T	c.(331-333)Gca>Tca	p.A111S	TMEM52B_ENST00000298530.3_Missense_Mutation_p.A91S|TMEM52B_ENST00000536952.1_Missense_Mutation_p.A111S			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	111						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTTTGGCCCTGCAGCTCGGAG	0.552																																																	0													98	85	89					12																	10342518		2203	4300	6503	SO:0001583	missense	0			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.331G>T	12.37:g.10342518G>T	ENSP00000371348:p.Ala111Ser		Q96NA7	Missense_Mutation	SNP	NULL	p.A111S	ENST00000381923.2	37	c.331		12	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010029	0.35415	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.32515	1.45;1.45;1.45	4.39	3.49	0.39957	.	0.082651	0.50627	N	0.000105	T	0.24160	0.0585	L	0.38531	1.155	0.39020	D	0.959726	B;B	0.30709	0.15;0.291	B;B	0.28991	0.044;0.097	T	0.12451	-1.0547	10	0.51188	T	0.08	-16.1825	11.6732	0.51415	0.0:0.0:0.8212:0.1787	.	111;91	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	S	111;91;111	ENSP00000371348:A111S;ENSP00000298530:A91S;ENSP00000446102:A111S	ENSP00000298530:A91S	A	+	1	0	C12orf59	10233785	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.370000	0.59517	1.179000	0.42884	0.585000	0.79938	GCA	TMEM52B	-	NULL	ENSG00000165685		0.552	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	-	0	39	0	G	NM_153022		10342518	1	tier1	-	no_errors	ENST00000381923	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	10342518	G	T	10342518	3	4	42	1	0	0	0	0	1	0	0	0	1707	1319	46	3	285	3	C12orf59	12	10342518	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	8861499	10342518	123509377	122	10290											
PRB4	5545	genome.wustl.edu	37	chr12	11461742	11461742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttgtgggggtggtcCttgtggctttcctggaggag	2	14	16	9	0	0	0	0	0	0	0	4	2	4	2	4	6	0	1	4	6	0	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:11461742C>T	ENST00000535904.1	-	3	208	c.175G>A	c.(175-177)Gga>Aga	p.G59R	PRB4_ENST00000445719.2_Missense_Mutation_p.G59R|PRB4_ENST00000279575.1_Missense_Mutation_p.G59R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	80	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGGGGTGGTCCTTGTGGCTTT	0.627										HNSCC(22;0.051)																																							0													205	222	216					12																	11461742		2201	4293	6494	SO:0001583	missense	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.175G>A	12.37:g.11461742C>T	ENSP00000442834:p.Gly59Arg		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.G59R	ENST00000535904.1	37	c.175	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	1.855	-0.464114	0.04476	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.04862	3.54;3.54;3.54	0.956	-1.91	0.07641	.	.	.	.	.	T	0.06554	0.0168	M	0.66297	2.02	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.40079	-0.9582	9	0.31617	T	0.26	.	2.5673	0.04786	0.0:0.3453:0.2742:0.3805	.	59	E9PAL0	.	R	59	ENSP00000279575:G59R;ENSP00000442834:G59R;ENSP00000412740:G59R	ENSP00000279575:G59R	G	-	1	0	PRB4	11353009	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.693000	0.00829	-1.187000	0.02709	0.196000	0.17591	GGA	PRB4	-	NULL	ENSG00000230657		0.627	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	-	0	134	0	C	NM_002723		11461742	-1	tier1	-	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	5.85	177	11	SNP	0.012	T	T	11461742	C	T	11461742	3	4	42	1	0	0	0	0	1	0	0	0	12487	690	24	3	572	3	PRB4	12	11461742	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1119224	11461742	122390153	123	10291											
ANKRD52	283373	genome.wustl.edu	37	chr12	56649607	56649607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatggtgcagagcactGcgcccgctcctgtcagccac	7	7	11	16	2	1	1	1	0	0	1	2	1	2	1	3	1	5	4	3	1	0	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:56649607G>A	ENST00000267116.7	-	5	544	c.423C>T	c.(421-423)cgC>cgT	p.R141R		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	141										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCAGAGCACTGCGCCCGCTCC	0.602																																																	0													14	16	15					12																	56649607		2034	4183	6217	SO:0001819	synonymous_variant	0			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	26614	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit C"						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.423C>T	12.37:g.56649607G>A			A6NE79|B1Q2K2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R141	ENST00000267116.7	37	c.423	CCDS44920.1	12																																																																																			ANKRD52	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000139645		0.602	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1		0	57	0	G	NM_173595		56649607	-1			no_errors	ENST00000267116	ensembl	human	known	74_37	silent	7.04	66	5	SNP	1.000	A	A	56649607	G	A	56649607	2	1	42	1	0	0	0	0	0	0	0	1	678	1306	46	3		3	ANKRD52	12	56649607	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	45187865	56649607	77202288	124	10292											
NXPH4	11247	genome.wustl.edu	37	chr12	57619118	57619118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctggctgcccgggcctgTcccccaccctctgcagtcta	4	9	10	18	1	3	0	0	0	3	0	4	0	4	0	5	2	2	2	5	2	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:57619118T>C	ENST00000349394.5	+	2	690	c.515T>C	c.(514-516)gTc>gCc	p.V172A	NXPH4_ENST00000555154.1_3'UTR|Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	172	IV (linker domain).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						CCCGGGCCTGTCCCCCACCCT	0.701																																																	0													55	60	58					12																	57619118		2203	4300	6503	SO:0001583	missense	0			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.515T>C	12.37:g.57619118T>C	ENSP00000333593:p.Val172Ala		A8K4I4|Q7Z6L3|Q8N462	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.V172A	ENST00000349394.5	37	c.515	CCDS8933.1	12	.	.	.	.	.	.	.	.	.	.	T	0.043	-1.277567	0.01410	.	.	ENSG00000182379	ENST00000349394	.	.	.	4.27	-0.101	0.13618	.	1.023130	0.07861	N	0.966323	T	0.12987	0.0315	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26292	-1.0107	9	0.05959	T	0.93	-19.6367	0.9059	0.01284	0.1611:0.3909:0.1576:0.2905	.	172	O95158	NXPH4_HUMAN	A	172	.	ENSP00000333593:V172A	V	+	2	0	NXPH4	55905385	0.015000	0.18098	0.924000	0.36721	0.597000	0.36814	-0.055000	0.11807	-0.160000	0.11002	-0.624000	0.04008	GTC	NXPH4	-	pirsf_Neurexophilin	ENSG00000182379		0.701	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH4	HGNC	protein_coding	OTTHUMT00000412474.1		0	57	0	T	NM_007224		57619118	1			no_errors	ENST00000349394	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.113	C	C	57619118	T	C	57619118	3	2	42	1	0	0	0	0	1	0	0	0	10832	1667	58	4	521	4	NXPH4	12	57619118	Missense_Mutation	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	969511	57619118	76232777	125	10293											
C12orf12	196477	genome.wustl.edu	37	chr12	91348412	91348412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgccttcgatggcaggaCgaccaggagctcaaggaggc	9	4	17	11	3	1	0	1	0	0	0	2	5	1	3	2	6	1	2	2	6	1	1	rs370822454		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:91348412C>T	ENST00000358859.2	-	1	541	c.108G>A	c.(106-108)tcG>tcA	p.S36S	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	36																	GATGGCAGGACGACCAGGAGC	0.657																																																	0													18	17	18					12																	91348412		2202	4300	6502	SO:0001819	synonymous_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.108G>A	12.37:g.91348412C>T			Q8TC47	Silent	SNP	NULL	p.S36	ENST00000358859.2	37	c.108	CCDS9036.1	12																																																																																			CCER1	-	NULL	ENSG00000197651		0.657	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2		0	34	0	C	NM_152638		91348412	-1			no_errors	ENST00000358859	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.057	T	T	91348412	C	T	91348412	2	4	42	1	0	0	0	0	0	0	0	1	1681	523	19	1		1	C12orf12	12	91348412	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	33729294	91348412	42503483	126	10294											
ASCL1	429	genome.wustl.edu	37	chr12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA																															gcagcggcagcgcagagcgcINSgcagcagcagcagcagcagc																								rs71438488|rs3832799|rs369257660		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1; AAA58376). {ECO:0000305}.	adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757																																																	0																																										SO:0001652	inframe_insertion	0			L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"Basic helix-loop-helix proteins"	738	protein-coding gene	gene with protein product		100790	"achaete-scute complex (Drosophila) homolog-like 1", "achaete-scute complex-like 1 (Drosophila)", "achaete-scute complex homolog 1 (Drosophila)"			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.183_185dupGCA	12.37:g.103352178_103352180dupGCA	ENSP00000266744:p.Gln62_Gln62dup		A8K3C4|Q9BQ30	In_Frame_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.54in_frame_insQ	ENST00000266744.3	37	c.149_150	CCDS31886.1	12																																																																																			ASCL1	-	NULL	ENSG00000139352		0.757	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCL1	HGNC	protein_coding	OTTHUMT00000406707.1		0	17	0	-			103352172	1	tier1		no_errors	ENST00000266744	ensembl	human	known	74_37	in_frame_ins	28.57	10	4	INS	0.997:0.997	GCA	GCA	103352172	-	GCA	103352171	7	5	42	1	0	1	1	0	0	0	0	0	1035	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-JY-A939-01A-12D-A37C-09	12003759	103352171	30499724	127	10295											
OAS3	4940	genome.wustl.edu	37	chr12	113379474	113379474	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgtggaccagagggccCgccgtgcagagatcctcagt	8	7	14	12	2	1	2	1	0	0	2	2	4	2	3	4	2	1	2	4	2	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:113379474C>G	ENST00000228928.7	+	2	456	c.277C>G	c.(277-279)Cgc>Ggc	p.R93G	OAS3_ENST00000548514.1_Missense_Mutation_p.R93G|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Missense_Mutation_p.R93G|OAS3_ENST00000546638.1_Intron	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	93	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCAGAGGGCCCGCCGTGCAGA	0.607																																																	0													71	76	75					12																	113379474		1971	4157	6128	SO:0001583	missense	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"2'-5'-oligoadenylate synthetase 3 (100 kD)"			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.277C>G	12.37:g.113379474C>G	ENSP00000228928:p.Arg93Gly		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.R93G	ENST00000228928.7	37	c.277	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	C	7.292	0.611251	0.14066	.	.	ENSG00000111331	ENST00000228928;ENST00000551007;ENST00000548514;ENST00000323881	T;T;T	0.21543	2.0;2.0;2.0	3.69	-3.35	0.04928	2-5-oligoadenylate synthetase, N-terminal (1);	.	.	.	.	T	0.16385	0.0394	L	0.61036	1.89	0.09310	N	1	B;B;B	0.11235	0.0;0.002;0.004	B;B;B	0.14023	0.0;0.003;0.01	T	0.40098	-0.9581	9	0.51188	T	0.08	.	0.8445	0.01158	0.1518:0.249:0.2984:0.3008	.	93;93;93	Q9Y6K5;F8VS35;F8VWK9	OAS3_HUMAN;.;.	G	93	ENSP00000228928:R93G;ENSP00000449299:R93G;ENSP00000448388:R93G	ENSP00000228928:R93G	R	+	1	0	OAS3	111863857	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.721000	0.04963	-0.605000	0.05753	-0.291000	0.09656	CGC	OAS3	-	pfscan_2-5-oligoadenylate_synth_N	ENSG00000111331		0.607	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	-	0	46	0	C			113379474	1	tier1	-	no_errors	ENST00000228928	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	G	G	113379474	C	G	113379474	3	3	42	1	0	0	0	0	1	0	0	0	10840	652	23	5	283	5	OAS3	12	113379474	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	10027303	113379474	20472421	128	10296											
SDSL	113675	genome.wustl.edu	37	chr12	113873214	113873214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggtgctggcagttggggGtgggggtctcctggccgggg	1	9	22	9	1	1	0	0	0	1	0	2	0	1	0	3	9	1	3	3	9	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:113873214G>A	ENST00000403593.4	+	6	786	c.524G>A	c.(523-525)gGt>gAt	p.G175D	SDSL_ENST00000345635.4_Missense_Mutation_p.G175D			Q96GA7	SDSL_HUMAN	serine dehydratase-like	175					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						GCAGTTGGGGGTGGGGGTCTC	0.662																																																	0													17	20	19					12																	113873214		2198	4294	6492	SO:0001583	missense	0			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.524G>A	12.37:g.113873214G>A	ENSP00000385790:p.Gly175Asp			Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.G175D	ENST00000403593.4	37	c.524	CCDS9170.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.49|16.49	3.137537|3.137537	0.56936|0.56936	.|.	.|.	ENSG00000139410|ENSG00000139410	ENST00000403593;ENST00000553248;ENST00000345635|ENST00000546672	D;D;D|.	0.97352|.	-4.35;-4.35;-4.35|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Pyridoxal phosphate-dependent enzyme, beta subunit (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90442|0.90442	0.7007|0.7007	H|H	0.98507|0.98507	4.25|4.25	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94496|0.94496	0.7705|0.7705	10|5	0.87932|.	D|.	0|.	-14.1173|-14.1173	17.133|17.133	0.86730|0.86730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	175|.	Q96GA7|.	SDSL_HUMAN|.	D|M	175;117;175|71	ENSP00000385790:G175D;ENSP00000448868:G117D;ENSP00000341117:G175D|.	ENSP00000341117:G175D|.	G|V	+|+	2|1	0|0	SDSL|SDSL	112357597|112357597	1.000000|1.000000	0.71417|0.71417	0.825000|0.825000	0.32803|0.32803	0.017000|0.017000	0.09413|0.09413	9.570000|9.570000	0.98174|0.98174	2.209000|2.209000	0.71365|0.71365	0.462000|0.462000	0.41574|0.41574	GGT|GTG	SDSL	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	ENSG00000139410		0.662	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDSL	HGNC	protein_coding	OTTHUMT00000404782.1	-	0	167	0	G	NM_138432		113873214	1	tier1	-	no_errors	ENST00000345635	ensembl	human	known	74_37	missense	19.21	121	29	SNP	1.000	A	A	113873214	G	A	113873214	3	1	42	1	0	0	0	0	1	0	0	0	14021	1261	44	3	542	3	SDSL	12	113873214	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	493740	113873214	19978681	129	10297											
MED13L	23389	genome.wustl.edu	37	chr12	116401223	116401223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatctaccttaaaacatcCgacgtggttttggagtcaag	11	12	10	8	2	2	0	1	0	1	0	3	2	3	1	2	3	2	2	2	3	5	5	rs140228421		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:116401223C>T	ENST00000281928.3	-	30	6695	c.6489G>A	c.(6487-6489)tcG>tcA	p.S2163S	RP11-493P1.2_ENST00000549725.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2163						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTAAAACATCCGACGTGGTTT	0.448																																																	0								A		0,4406		0,0,2203	123	107	112		6489	1.5	1	12	dbSNP_134	112	1,8599		0,1,4299	no	coding-synonymous	MED13L	NM_015335.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2163/2211	116401223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6489G>A	12.37:g.116401223C>T			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.S2163	ENST00000281928.3	37	c.6489	CCDS9177.1	12																																																																																			MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.448	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	51	0	C			116401223	-1	tier1	rs140228421	no_errors	ENST00000281928	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.962	T	T	116401223	C	T	116401223	2	4	42	1	0	0	0	0	0	0	0	1	9469	639	23	1		1	MED13L	12	116401223	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	2528009	116401223	17450672	130	10298											
KSR2	283455	genome.wustl.edu	37	chr12	117977585	117977585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggtgtaggggagaaggCggcgtggcactaggagggag	10	4	23	4	2	0	1	0	0	0	1	0	5	0	3	0	8	0	2	0	8	4	2	rs377054023		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:117977585C>T	ENST00000339824.5	-	10	2353	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	KSR2_ENST00000302438.5_Silent_p.P239P|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Silent_p.P513P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	542	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGAAGGCGGCGTGGCAC	0.642																																																	0								C		0,4228		0,0,2114	68	80	76		1539	0.9	1	12		76	1,8429		0,1,4214	no	coding-synonymous	KSR2	NM_173598.4		0,1,6328	TT,TC,CC		0.0119,0.0,0.0079		513/922	117977585	1,12657	2114	4215	6329	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1626G>A	12.37:g.117977585C>T			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P542	ENST00000339824.5	37	c.1626		12																																																																																			KSR2	-	NULL	ENSG00000171435		0.642	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0	33	0	C	NM_173598		117977585	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.980	T	T	117977585	C	T	117977585	2	4	42	1	0	0	0	0	0	0	0	1	8610	755	27	1		1	KSR2	12	117977585	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1576362	117977585	15874310	131	10299											
ANAPC5	51433	genome.wustl.edu	37	chr12	121783796	121783796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacacttggctgaaagaaaGcttactgtaggccaagatca	16	8	9	8	0	1	3	1	1	0	2	1	3	1	3	1	2	3	3	1	2	6	3	rs372186574		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:121783796G>T	ENST00000261819.3	-	4	557	c.436C>A	c.(436-438)Ctt>Att	p.L146I	ANAPC5_ENST00000541887.1_Missense_Mutation_p.L146I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.L25I|ANAPC5_ENST00000344395.4_Missense_Mutation_p.L47I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.L47I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGAAAGAAAGCTTACTGTAG	0.448																																																	0													144	128	133					12																	121783796		2203	4300	6503	SO:0001583	missense	0			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"Anaphase promoting complex subunits"	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.436C>A	12.37:g.121783796G>T	ENSP00000261819:p.Leu146Ile		E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	smart_TPR_repeat	p.L146I	ENST00000261819.3	37	c.436	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857071	0.91433	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000344395;ENST00000536366;ENST00000544442;ENST00000539871	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.955	T	0.65772	-0.6087	10	0.87932	D	0	.	19.6299	0.95698	0.0:0.0:1.0:0.0	.	47;146	E9PFB2;Q9UJX4	.;APC5_HUMAN	I	47;146;146;47;25;47;194	ENSP00000415061:L47I;ENSP00000439875:L146I;ENSP00000261819:L146I;ENSP00000343787:L47I;ENSP00000445310:L25I;ENSP00000440800:L47I;ENSP00000445191:L194I	ENSP00000261819:L146I	L	-	1	0	ANAPC5	120268179	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.118000	0.64673	2.639000	0.89480	0.655000	0.94253	CTT	ANAPC5	-	NULL	ENSG00000089053		0.448	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	HGNC	protein_coding	OTTHUMT00000402582.1	-	0	72	0	G			121783796	-1	tier1	-	no_errors	ENST00000261819	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	121783796	G	T	121783796	3	4	42	1	0	0	0	0	1	0	0	0	605	971	34	3	1887	3	ANAPC5	12	121783796	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3806211	121783796	12068099	132	10300											
GPR109A	338442	genome.wustl.edu	37	chr12	123187714	123187714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccattgcccagaagcccgaaGataaactccagccccaacac	14	4	6	17	1	0	2	0	0	0	2	1	3	1	2	6	0	5	0	6	0	5	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr12:123187714G>C	ENST00000328880.5	-	1	176	c.117C>G	c.(115-117)atC>atG	p.I39M	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	39					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	GAAGCCCGAAGATAAACTCCA	0.512																																																	0													76	73	74					12																	123187714		2203	4300	6503	SO:0001583	missense	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	24827	protein-coding gene	gene with protein product	"niacin receptor 1"	609163	"G protein-coupled receptor 109A"	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.117C>G	12.37:g.123187714G>C	ENSP00000375066:p.Ile39Met		A0PJL5|A7LGG3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I39M	ENST00000328880.5	37	c.117	CCDS9235.1	12	.	.	.	.	.	.	.	.	.	.	G	2.480	-0.319929	0.05386	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.40756	1.02	5.49	-1.03	0.10102	.	0.394981	0.22640	N	0.057473	T	0.31765	0.0807	L	0.49126	1.545	0.09310	N	1	B	0.20164	0.042	B	0.26094	0.066	T	0.30679	-0.9970	10	0.72032	D	0.01	-15.3083	4.981	0.14164	0.2166:0.3486:0.3632:0.0717	.	39	Q8TDS4	HCAR2_HUMAN	M	39	ENSP00000375066:I39M	ENSP00000375066:I39M	I	-	3	3	HCAR2	121753667	0.000000	0.05858	0.184000	0.23157	0.023000	0.10783	-1.290000	0.02777	0.115000	0.18071	-1.291000	0.01355	ATC	HCAR2	-	prints_GPCR_Rhodpsn	ENSG00000182782		0.512	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	-	0	75	0	G	NM_177551		123187714	-1	tier1	-	no_errors	ENST00000328880	ensembl	human	known	74_37	missense	6.25	90	6	SNP	0.189	C	C	123187714	G	C	123187714	3	2	42	1	0	0	0	0	1	0	0	0	6651	932	33	5	978	5	GPR109A	12	123187714	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	1403918	123187714	10664181	133	10301											
RNF6	6049	genome.wustl.edu	37	chr13	26788999	26788999	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctacctctcctcctaacAgatcttctagtggtttgctg	6	16	7	12	0	4	1	0	0	4	1	6	1	5	1	3	1	3	3	3	1	3	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr13:26788999A>T	ENST00000381588.4	-	5	1772	c.1020T>A	c.(1018-1020)tcT>tcA	p.S340S	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Silent_p.S340S|RNF6_ENST00000399762.2_Intron|RNF6_ENST00000381570.3_Silent_p.S340S	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	340	Arg-rich.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCCTCCTAACAGATCTTCTAG	0.438																																																	0													135	126	129					13																	26788999		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1020T>A	13.37:g.26788999A>T			B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S340	ENST00000381588.4	37	c.1020	CCDS9316.1	13																																																																																			RNF6	-	NULL	ENSG00000127870		0.438	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2	-	0	68	0	A	NM_005977		26788999	-1	tier1	-	no_errors	ENST00000346166	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.998	T	T	26788999	A	T	26788999	2	4	42	1	0	0	0	0	0	0	0	1	13543	175	7	5		5	RNF6	13	26788999	Silent	SNP	A	TCGA-JY-A939-01A-12D-A37C-09		26788999	88380879	134	10302											
HSPH1	10808	genome.wustl.edu	37	chr13	31713165	31713165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaacttgtcaacatatGcttgtttagcttggtcctct	7	17	6	11	0	2	0	1	0	1	0	4	0	4	0	2	1	4	3	2	1	4	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr13:31713165G>T	ENST00000320027.5	-	15	2404	c.2060C>A	c.(2059-2061)gCa>gAa	p.A687E	HSPH1_ENST00000380405.4_Missense_Mutation_p.A643E|HSPH1_ENST00000429785.2_Missense_Mutation_p.A506E|HSPH1_ENST00000380406.5_Missense_Mutation_p.A646E|HSPH1_ENST00000445273.2_Missense_Mutation_p.A689E	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	687					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GTCAACATATGCTTGTTTAGC	0.338																																																	0													124	111	115					13																	31713165		2203	4300	6503	SO:0001583	missense	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2060C>A	13.37:g.31713165G>T	ENSP00000318687:p.Ala687Glu		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A689E	ENST00000320027.5	37	c.2066	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969017	0.74131	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.7	5.7	0.88788	.	0.196429	0.44483	D	0.000454	T	0.05914	0.0154	N	0.01817	-0.705	0.36866	D	0.88864	P;B;P;P;P	0.45212	0.853;0.013;0.853;0.714;0.758	B;B;P;B;P	0.47626	0.425;0.026;0.53;0.306;0.552	T	0.34229	-0.9837	10	0.51188	T	0.08	-12.0227	7.4506	0.27235	0.1969:0.0:0.8031:0.0	.	506;646;689;643;687	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	E	687;643;646;689;506	ENSP00000318687:A687E;ENSP00000369768:A643E;ENSP00000369769:A646E;ENSP00000396090:A689E;ENSP00000388778:A506E	ENSP00000318687:A687E	A	-	2	0	HSPH1	30611165	1.000000	0.71417	0.746000	0.31095	0.872000	0.50106	6.009000	0.70745	2.705000	0.92388	0.650000	0.86243	GCA	HSPH1	-	pfam_Hsp_70_fam	ENSG00000120694		0.338	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	-	0	78	0	G			31713165	-1	tier1	-	no_errors	ENST00000445273	ensembl	human	known	74_37	missense	5.48	68	4	SNP	0.993	T	T	31713165	G	T	31713165	3	4	42	1	0	0	0	0	1	0	0	0	7458	1319	46	3	532	3	HSPH1	13	31713165	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	4924166	31713165	83456713	135	10303											
ARL11	115761	genome.wustl.edu	37	chr13	50204836	50204836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcacagatatcctcGtgtacgtgctggacagcaca	11	8	12	10	2	0	1	0	0	0	1	2	3	1	3	1	3	3	4	1	3	3	2	rs374531869		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr13:50204836G>A	ENST00000282026.1	+	2	588	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	85					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		AGATATCCTCGTGTACGTGCT	0.607																																																	0													83	81	82					13																	50204836		2203	4300	6503	SO:0001583	missense	0			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.253G>A	13.37:g.50204836G>A	ENSP00000282026:p.Val85Met			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.V85M	ENST00000282026.1	37	c.253	CCDS9419.1	13	.	.	.	.	.	.	.	.	.	.	G	11.53	1.664743	0.29604	.	.	ENSG00000152213	ENST00000282026	D	0.84730	-1.89	5.42	2.48	0.30137	Small GTP-binding protein domain (1);	0.202270	0.42172	D	0.000757	D	0.88934	0.6572	M	0.81614	2.55	0.36652	D	0.877444	D	0.76494	0.999	P	0.60286	0.872	D	0.89685	0.3893	10	0.87932	D	0	-12.9946	6.0434	0.19746	0.2202:0.2347:0.5451:0.0	.	85	Q969Q4	ARL11_HUMAN	M	85	ENSP00000282026:V85M	ENSP00000282026:V85M	V	+	1	0	ARL11	49102837	0.701000	0.27806	0.557000	0.28306	0.018000	0.09664	1.097000	0.30988	1.288000	0.44600	0.655000	0.94253	GTG	ARL11	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000152213		0.607	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL11	HGNC	protein_coding	OTTHUMT00000044929.2		0	37	0	G	NM_138450		50204836	1			no_errors	ENST00000282026	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.247	A	A	50204836	G	A	50204836	3	1	42	1	0	0	0	0	1	0	0	0	927	1145	40	1	255	1	ARL11	13	50204836	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	18491671	50204836	64965042	136	10304											
FAM124A	220108	genome.wustl.edu	37	chr13	51854621	51854621	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtttcctaaacctggCagagtacatcatgcctccga	13	9	8	11	1	1	2	1	0	0	2	3	3	3	2	4	1	3	3	4	1	5	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr13:51854621C>A	ENST00000322475.8	+	4	1005	c.870C>A	c.(868-870)ggC>ggA	p.G290G	FAM124A_ENST00000280057.6_Silent_p.G326G	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	290										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CTAAACCTGGCAGAGTACATC	0.517																																																	0													95	83	87					13																	51854621		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.870C>A	13.37:g.51854621C>A			A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	NULL	p.G326	ENST00000322475.8	37	c.978	CCDS55900.1	13																																																																																			FAM124A	-	NULL	ENSG00000150510		0.517	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	-	0	48	0	C	NM_145019		51854621	1	tier1	-	no_errors	ENST00000280057	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.001	A	A	51854621	C	A	51854621	2	1	42	1	0	0	0	0	0	0	0	1	5444	697	25	3		3	FAM124A	13	51854621	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1649785	51854621	63315257	137	10305											
DACH1	1602	genome.wustl.edu	37	chr13	72255964	72255964	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggagacatgagaccaggGacagaatgcggcatgatgtg	13	5	15	8	1	0	4	0	2	0	3	0	7	0	5	2	3	1	1	2	3	1	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr13:72255964G>T	ENST00000359684.2	-	2	932	c.933C>A	c.(931-933)gtC>gtA	p.V311V	DACH1_ENST00000354591.4_Silent_p.V311V|DACH1_ENST00000313174.7_Silent_p.V311V|DACH1_ENST00000305425.4_Silent_p.V311V			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	311	Interaction with SIX6 and HDAC3. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGAGACCAGGGACAGAATGCG	0.423																																																	0													114	114	114					13																	72255964		1931	4139	6070	SO:0001819	synonymous_variant	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.933C>A	13.37:g.72255964G>T			D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.V311	ENST00000359684.2	37	c.933		13																																																																																			DACH1	-	NULL	ENSG00000165659		0.423	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	-	0	72	0	G	NM_004392		72255964	-1	tier1	-	no_errors	ENST00000359684	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	72255964	G	T	72255964	2	4	42	1	0	0	0	0	0	0	0	1	4229	1161	41	3		3	DACH1	13	72255964	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	20401343	72255964	42913914	138	10306											
ITGBL1	9358	genome.wustl.edu	37	chr13	102227889	102227889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacgatgaaacagaagaaaTatgtggaggtatgtatattg	17	10	12	2	1	0	4	0	1	0	3	0	6	0	5	0	2	1	2	0	2	7	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr13:102227889T>C	ENST00000376180.3	+	4	797	c.578T>C	c.(577-579)aTa>aCa	p.I193T	ITGBL1_ENST00000545560.2_Missense_Mutation_p.I52T|ITGBL1_ENST00000376162.3_Missense_Mutation_p.I100T	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	193	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACAGAAGAAATATGTGGAGGT	0.343																																																	0													190	182	185					13																	102227889		2203	4300	6503	SO:0001583	missense	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.578T>C	13.37:g.102227889T>C	ENSP00000365351:p.Ile193Thr		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.I193T	ENST00000376180.3	37	c.578	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061448	0.55432	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.93019	-3.15;-3.15;-3.15	6.17	4.93	0.64822	EGF, extracellular (1);	0.219650	0.51477	D	0.000094	D	0.95271	0.8466	M	0.63843	1.955	0.44036	D	0.996768	P;B	0.46912	0.886;0.17	D;B	0.64410	0.925;0.297	D	0.94056	0.7322	10	0.34782	T	0.22	.	13.2634	0.60120	0.0:0.0:0.132:0.868	.	52;193	B3KTP1;O95965	.;ITGBL_HUMAN	T	193;101;52;52;100	ENSP00000365351:I193T;ENSP00000439903:I52T;ENSP00000365332:I100T	ENSP00000365332:I100T	I	+	2	0	ITGBL1	101025890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.919000	0.70005	2.371000	0.80710	0.533000	0.62120	ATA	ITGBL1	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000198542		0.343	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	-	0	95	0	T	NM_004791		102227889	1	tier1	-	no_errors	ENST00000376180	ensembl	human	known	74_37	missense	6.36	103	7	SNP	1.000	C	C	102227889	T	C	102227889	3	2	42	1	0	0	0	0	1	0	0	0	7929	1406	49	4	592	4	ITGBL1	13	102227889	Missense_Mutation	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	29971925	102227889	12941989	139	10307											
MYH7	4625	genome.wustl.edu	37	chr14	23888490	23888490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccttctcatccagctGccgggacagctcacctgggg	5	9	11	16	1	2	0	2	0	1	0	5	1	4	1	5	3	4	2	5	3	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:23888490G>T	ENST00000355349.3	-	29	4030	c.3868C>A	c.(3868-3870)Cag>Aag	p.Q1290K	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1290					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCATCCAGCTGCCGGGACAGC	0.597																																																	0													87	84	85					14																	23888490		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3868C>A	14.37:g.23888490G>T	ENSP00000347507:p.Gln1290Lys		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1290K	ENST00000355349.3	37	c.3868	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258000	0.59321	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79352	-1.26	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	T	0.81987	0.4939	M	0.79926	2.475	0.46131	D	0.998889	B	0.22983	0.078	B	0.32149	0.141	T	0.80874	-0.1187	9	0.54805	T	0.06	.	18.4795	0.90806	0.0:0.0:1.0:0.0	.	1290	P12883	MYH7_HUMAN	K	1290;1295	ENSP00000347507:Q1290K	ENSP00000347507:Q1290K	Q	-	1	0	MYH7	22958330	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.415000	0.80131	2.602000	0.87976	0.655000	0.94253	CAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.597	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3		0	58	0	G	NM_000257		23888490	-1			no_errors	ENST00000355349	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.999	T	T	23888490	G	T	23888490	3	4	42	1	0	0	0	0	1	0	0	0	10077	1328	46	3	1987	3	MYH7	14	23888490	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		23888490	83461050	140	10308											
C14orf21	161424	genome.wustl.edu	37	chr14	24770856	24770856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaatgtaagccagctGattttgaagtccctgaaacc	12	10	9	10	0	1	3	1	3	0	0	2	4	2	4	3	1	3	2	3	1	4	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:24770856G>T	ENST00000267425.3	+	3	829	c.736G>T	c.(736-738)Gat>Tat	p.D246Y	DHRS1_ENST00000288111.7_5'Flank|NOP9_ENST00000396802.3_Missense_Mutation_p.D246Y|DHRS1_ENST00000396813.1_5'Flank	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	246							poly(A) RNA binding (GO:0044822)										TAAGCCAGCTGATTTTGAAGT	0.483																																																	0													125	106	113					14																	24770856		2203	4300	6503	SO:0001583	missense	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.736G>T	14.37:g.24770856G>T	ENSP00000267425:p.Asp246Tyr		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.D246Y	ENST00000267425.3	37	c.736	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468616	0.63625	.	.	ENSG00000196943	ENST00000267425;ENST00000396802	T;T	0.14893	2.47;2.47	5.46	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.237569	0.41605	D	0.000843	T	0.24851	0.0603	L	0.47716	1.5	0.47994	D	0.99956	P	0.46142	0.873	P	0.52267	0.694	T	0.00146	-1.1992	10	0.59425	D	0.04	-0.6444	10.9813	0.47497	0.096:0.0:0.904:0.0	.	246	Q86U38	CN021_HUMAN	Y	246	ENSP00000267425:D246Y;ENSP00000380020:D246Y	ENSP00000267425:D246Y	D	+	1	0	C14orf21	23840696	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	3.220000	0.51207	2.840000	0.97914	0.655000	0.94253	GAT	NOP9	-	superfamily_ARM-type_fold	ENSG00000196943		0.483	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	-	0	77	0	G			24770856	1	tier1	-	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.998	T	T	24770856	G	T	24770856	3	4	42	1	0	0	0	0	1	0	0	0	1774	1290	45	3	746	3	C14orf21	14	24770856	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	882366	24770856	82578684	141	10309											
KHNYN	23351	genome.wustl.edu	37	chr14	24900980	24900980	+	Frame_Shift_Del	DEL	G	G	-																															tctgccctgctgcagtccccGggggatgcccatagagaggc																								rs201288250		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:24900980delG	ENST00000251343.5	+	3	652	c.513delG	c.(511-513)ccgfs	p.P171fs	CBLN3_ENST00000267406.6_5'Flank|KHNYN_ENST00000554268.1_5'Flank|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000556842.1_Frame_Shift_Del_p.P171fs|KHNYN_ENST00000553935.1_Frame_Shift_Del_p.P171fs			O15037	KHNYN_HUMAN	KH and NYN domain containing	171							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGCAGTCCCCGGGGGATGCCC	0.637											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54	62	59					14																	24900980		2203	4300	6503	SO:0001589	frameshift_variant	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.513delG	14.37:g.24900980delG	ENSP00000251343:p.Pro171fs	774	Q86TZ6|Q8IUQ2|Q96BA9	Frame_Shift_Del	DEL	pfam_RNase_Zc3h12	p.D173fs	ENST00000251343.5	37	c.513	CCDS32058.1	14																																																																																			KHNYN	-	NULL	ENSG00000100441		0.637	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1		0	30	0	G			24900980	1	tier1		no_errors	ENST00000251343	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.000	-	-	24900980	G	-	24900980	7	5	42	1	0	1	0	1	0	0	0	0	8177	1103	39	0	519	0	KHNYN	14	24900980	Frame_Shift_Del	DEL	G	TCGA-JY-A939-01A-12D-A37C-09	130124	24900980	82448560	142	10310											
FANCM	57697	genome.wustl.edu	37	chr14	45658089	45658089	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaatcaagtgaagaaGaagtttgtgttgattttaac	15	12	10	4	0	1	4	1	2	0	2	1	4	1	4	1	1	1	2	1	1	7	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:45658089G>T	ENST00000267430.5	+	20	4949	c.4864G>T	c.(4864-4866)Gaa>Taa	p.E1622*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.E1596*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1622					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.E1622*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGTGAAGAAGAAGTTTGTGT	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								1	Substitution - Nonsense(1)	lung(1)											86	88	88					14																	45658089		2203	4298	6501	SO:0001587	stop_gained	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4864G>T	14.37:g.45658089G>T	ENSP00000267430:p.Glu1622*		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1622*	ENST00000267430.5	37	c.4864	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.668864|6.668864	0.97747|0.97747	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.317296|.	0.32785|.	N|.	0.005654|.	.|T	.|0.75110	.|0.3805	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72367	.|-0.4315	.|3	0.62326|.	D|.	0.03|.	.|.	18.6901|18.6901	0.91580|0.91580	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1622;1596;1138|554	.|.	ENSP00000267430:E1622X|.	E|R	+|+	1|2	0|0	FANCM|FANCM	44727839|44727839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.849000|6.849000	0.75414|0.75414	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	GAA|AGA	FANCM	-	NULL	ENSG00000187790		0.323	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1		0	60	0	G	XM_048128		45658089	1			no_errors	ENST00000267430	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	1.000	T	T	45658089	G	T	45658089	4	4	42	1	0	0	0	0	0	1	0	0	5693	943	33	3	4942	3	FANCM	14	45658089	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	20757109	45658089	61691451	143	10311											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72202017	72202017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagagcctcattttttgctGctagtgatgaaaaccatcgc	11	12	9	9	1	1	3	1	2	0	1	2	4	1	3	2	0	4	2	2	0	3	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:72202017G>T	ENST00000555818.1	+	20	5443	c.5095G>T	c.(5095-5097)Gct>Tct	p.A1699S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A1678S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A1678S|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.A1153S|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1699					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ATTTTTTGCTGCTAGTGATGA	0.498																																																	0													165	173	170					14																	72202017		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.5095G>T	14.37:g.72202017G>T	ENSP00000450832:p.Ala1699Ser		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.A1699S	ENST00000555818.1	37	c.5095	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	8.647	0.897309	0.17686	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.39	5.39	0.77823	.	0.288637	0.39687	N	0.001290	T	0.14917	0.0360	N	0.12182	0.205	0.38317	D	0.943403	B;B;B;B;B	0.13594	0.001;0.002;0.0;0.0;0.008	B;B;B;B;B	0.14578	0.001;0.003;0.004;0.001;0.011	T	0.11567	-1.0582	10	0.29301	T	0.29	-16.2937	12.082	0.53675	0.0794:0.0:0.9206:0.0	.	1153;1699;1153;1678;1699	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	S	1678;1699;1678;1153	ENSP00000370630:A1678S;ENSP00000450832:A1699S;ENSP00000351352:A1678S;ENSP00000440682:A1153S	ENSP00000351352:A1699S	A	+	1	0	SIPA1L1	71271770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.781000	0.62389	2.677000	0.91161	0.655000	0.94253	GCT	SIPA1L1	-	pfam_DUF3401	ENSG00000197555		0.498	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0	74	0	G	NM_015556		72202017	1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	72202017	G	T	72202017	3	4	42	1	0	0	0	0	1	0	0	0	14374	1319	46	3	5169	3	SIPA1L1	14	72202017	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	26543928	72202017	35147523	144	10312											
CCDC88C	440193	genome.wustl.edu	37	chr14	91770137	91770137	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcctcgtactcggccgaTtgccgctcgtgcagcgtgcc	4	8	14	15	6	0	0	0	0	0	0	3	1	0	0	4	2	5	3	4	2	1	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:91770137T>C	ENST00000389857.6	-	20	3629	c.3543A>G	c.(3541-3543)caA>caG	p.Q1181Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1181					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACTCGGCCGATTGCCGCTCGT	0.642																																																	0													54	58	57					14																	91770137		2135	4235	6370	SO:0001819	synonymous_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3543A>G	14.37:g.91770137T>C			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.Q1181	ENST00000389857.6	37	c.3543	CCDS45151.1	14																																																																																			CCDC88C	-	NULL	ENSG00000015133		0.642	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0	42	0	T	XM_029353		91770137	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	C	C	91770137	T	C	91770137	2	2	42	1	0	0	0	0	0	0	0	1	2872	1490	52	4		4	CCDC88C	14	91770137	Silent	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	19568120	91770137	15579403	145	10313											
PAPOLA	10914	genome.wustl.edu	37	chr14	96986549	96986549	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtttttgaagaggaaGaggaactgcagcgcaggtaa	12	9	16	4	1	0	3	0	1	0	2	0	5	0	5	0	5	3	4	0	5	4	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:96986549G>T	ENST00000216277.8	+	2	386	c.166G>T	c.(166-168)Gag>Tag	p.E56*	PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000557320.1_Nonsense_Mutation_p.E56*|PAPOLA_ENST00000557471.1_Nonsense_Mutation_p.E56*|PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.E56*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	56	Poly-Glu.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGAAGAGGAAGAGGAACTGCA	0.373																																					NSCLC(19;254 734 11908 35501 39234)												0													66	65	65					14																	96986549		2203	4300	6503	SO:0001587	stop_gained	0			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.166G>T	14.37:g.96986549G>T	ENSP00000216277:p.Glu56*		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Nonsense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.E56*	ENST00000216277.8	37	c.166	CCDS9946.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.188002	0.94923	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	4.94	4.94	0.65067	.	0.192413	0.44483	D	0.000459	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.5341	0.91002	0.0:0.0:1.0:0.0	.	.	.	.	X	56;56;72;56;56;56	.	ENSP00000216277:E56X	E	+	1	0	PAPOLA	96056302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.081000	0.71309	2.455000	0.83008	0.650000	0.86243	GAG	PAPOLA	-	pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase	ENSG00000090060		0.373	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	-	0	79	0	G			96986549	1	tier1	-	no_errors	ENST00000216277	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T	T	96986549	G	T	96986549	4	4	42	1	0	0	0	0	0	1	0	0	11468	943	33	3	172	3	PAPOLA	14	96986549	Nonsense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	5216412	96986549	10362991	146	10314											
TDRD9	122402	genome.wustl.edu	37	chr14	104457534	104457534	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcccagtttgtgttggagCgaagcagtgtgttggtgttt	5	14	17	5	1	0	0	0	0	0	0	0	2	0	1	1	3	2	5	1	3	1	4	rs377183290		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr14:104457534C>T	ENST00000409874.4	+	9	1201	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	TDRD9_ENST00000339063.5_Nonsense_Mutation_p.R385*	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	385	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.R100*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTGTTGGAGCGAAGCAGTGT	0.408																																																	1	Substitution - Nonsense(1)	ovary(1)											193	173	180					14																	104457534		2203	4300	6503	SO:0001587	stop_gained	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1153C>T	14.37:g.104457534C>T	ENSP00000387303:p.Arg385*		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R385*	ENST00000409874.4	37	c.1153	CCDS9987.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.442261|5.442261	0.96187|0.96187	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000557332|ENST00000409874;ENST00000339063	.|.	.|.	.|.	5.63|5.63	4.72|4.72	0.59763|0.59763	.|.	.|0.224693	.|0.31145	.|N	.|0.008165	T|.	0.34308|.	0.0893|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35276|.	-0.9795|.	3|.	.|0.02654	.|T	.|1	.|.	13.7168|13.7168	0.62702|0.62702	0.1545:0.8455:0.0:0.0|0.1545:0.8455:0.0:0.0	.|.	.|.	.|.	.|.	V|X	111|385	.|.	.|ENSP00000343545:R385X	A|R	+|+	2|1	0|2	TDRD9|TDRD9	103527287|103527287	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.933000|0.933000	0.57130|0.57130	0.920000|0.920000	0.28705|0.28705	1.323000|1.323000	0.45263|0.45263	0.655000|0.655000	0.94253|0.94253	GCG|CGA	TDRD9	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000156414		0.408	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	-	0	130	0	C	NM_153046		104457534	1	tier1	-	no_errors	ENST00000409874	ensembl	human	known	74_37	nonsense	7.03	119	9	SNP	1.000	T	T	104457534	C	T	104457534	4	4	42	1	0	0	0	0	0	1	0	0	15783	760	27	1	1187	1	TDRD9	14	104457534	Nonsense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	7470985	104457534	2892006	147	10315											
LPCAT4	254531	genome.wustl.edu	37	chr15	34651938	34651938	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccctctgcttgctcttcAgcaaagagcttgggagagaa	10	9	12	10	0	3	2	1	0	2	2	3	5	3	4	1	2	4	4	1	2	2	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr15:34651938A>G	ENST00000314891.6	-	13	1428	c.1251T>C	c.(1249-1251)gcT>gcC	p.A417A		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	417					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CTTGCTCTTCAGCAAAGAGCT	0.587																																																	0													42	39	40					15																	34651938		2201	4298	6499	SO:0001819	synonymous_variant	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 2"	612039	"acyltransferase like 3", "1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1251T>C	15.37:g.34651938A>G			A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.A417	ENST00000314891.6	37	c.1251	CCDS32191.1	15																																																																																			LPCAT4	-	NULL	ENSG00000176454		0.587	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2		0	58	0	A	NM_153613		34651938	-1			no_errors	ENST00000314891	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.887	G	G	34651938	A	G	34651938	2	3	42	1	0	0	0	0	0	0	0	1	8948	175	7	4		4	LPCAT4	15	34651938	Silent	SNP	A	TCGA-JY-A939-01A-12D-A37C-09		34651938	67879454	148	10316											
MYO5C	55930	genome.wustl.edu	37	chr15	52545602	52545602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcataaaaatctatcagcGtccaaggtatatcttccttc	12	14	5	10	1	4	0	2	0	2	0	7	0	6	0	2	1	1	1	2	1	7	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr15:52545602G>T	ENST00000261839.7	-	12	1609	c.1448C>A	c.(1447-1449)aCg>aAg	p.T483K	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	483	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ATCTATCAGCGTCCAAGGTAT	0.333																																																	0													108	101	103					15																	52545602		1824	4080	5904	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1448C>A	15.37:g.52545602G>T	ENSP00000261839:p.Thr483Lys		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T483K	ENST00000261839.7	37	c.1448	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816973	0.70912	.	.	ENSG00000128833	ENST00000261839	D	0.95307	-3.67	5.57	4.66	0.58398	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	L	0.50333	1.59	0.80722	D	1	P	0.42556	0.783	B	0.41946	0.371	D	0.92397	0.5926	10	0.51188	T	0.08	.	14.7397	0.69445	0.0696:0.0:0.9304:0.0	.	483	Q9NQX4	MYO5C_HUMAN	K	483	ENSP00000261839:T483K	ENSP00000261839:T483K	T	-	2	0	MYO5C	50332894	1.000000	0.71417	0.996000	0.52242	0.646000	0.38490	9.813000	0.99286	1.489000	0.48450	-0.142000	0.14014	ACG	MYO5C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000128833		0.333	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1		0	54	0	G	NM_018728		52545602	-1			no_errors	ENST00000261839	ensembl	human	known	74_37	missense	6.52	42	3	SNP	1.000	T	T	52545602	G	T	52545602	3	4	42	1	0	0	0	0	1	0	0	0	10118	1145	40	2	3900	2	MYO5C	15	52545602	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	17893664	52545602	49985790	149	10317											
SCAPER	49855	genome.wustl.edu	37	chr15	76797222	76797222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaattcttaaaactgTgttcacatttgtggctggga	11	13	12	5	0	2	0	1	0	1	0	2	3	2	3	0	4	1	2	0	4	3	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr15:76797222T>C	ENST00000563290.1	-	24	3027	c.2932A>G	c.(2932-2934)Aca>Gca	p.T978A	SCAPER_ENST00000538941.2_Missense_Mutation_p.T732A|SCAPER_ENST00000324767.7_Missense_Mutation_p.T978A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	978						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTTAAAACTGTGTTCACATTT	0.393																																																	0													88	83	85					15																	76797222		1847	4090	5937	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2932A>G	15.37:g.76797222T>C	ENSP00000454973:p.Thr978Ala		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.T978A	ENST00000563290.1	37	c.2932	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	T	7.731	0.699234	0.15106	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22336	1.97;1.96	6.07	2.41	0.29592	.	0.428761	0.27402	N	0.019521	T	0.04907	0.0132	N	0.01267	-0.92	0.25508	N	0.987485	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.38585	-0.9654	10	0.07325	T	0.83	.	4.2294	0.10596	0.0:0.2375:0.178:0.5845	.	977;732	Q9BY12;F5H7X8	SCAPE_HUMAN;.	A	978;732;1000	ENSP00000326924:T978A;ENSP00000442190:T732A	ENSP00000303560:T1000A	T	-	1	0	SCAPER	74584277	0.999000	0.42202	1.000000	0.80357	0.797000	0.45037	0.377000	0.20552	0.508000	0.28173	-0.256000	0.11100	ACA	SCAPER	-	NULL	ENSG00000140386		0.393	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0	77	0	T	NM_020843		76797222	-1	tier1	-	no_errors	ENST00000324767	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	C	C	76797222	T	C	76797222	3	2	42	1	0	0	0	0	1	0	0	0	13923	1696	59	4	1306	4	SCAPER	15	76797222	Missense_Mutation	SNP	T	TCGA-JY-A939-01A-12D-A37C-09	24251620	76797222	25734170	150	10318											
NTRK3	4916	genome.wustl.edu	37	chr15	88472495	88472495	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactagcagattcgctccaAccaggcagttcctggtggcc	8	9	10	14	1	1	1	1	0	0	1	4	1	3	1	4	3	2	4	4	3	2	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr15:88472495A>C	ENST00000360948.2	-	16	2221	c.2060T>G	c.(2059-2061)gTt>gGt	p.V687G	NTRK3_ENST00000394480.2_Missense_Mutation_p.V687G|NTRK3_ENST00000357724.2_Missense_Mutation_p.V679G|NTRK3_ENST00000557856.1_Missense_Mutation_p.V679G|NTRK3_ENST00000542733.2_Missense_Mutation_p.V589G|NTRK3_ENST00000558676.1_Missense_Mutation_p.V679G|NTRK3_ENST00000355254.2_Missense_Mutation_p.V687G	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	687	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTCGCTCCAACCAGGCAGTT	0.547			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													100	91	94					15																	88472495		2201	4299	6500	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2060T>G	15.37:g.88472495A>C	ENSP00000354207:p.Val687Gly		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V687G	ENST00000360948.2	37	c.2060	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466957	0.84425	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	H	0.97635	4.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.996;0.998	D	0.96622	0.9460	10	0.87932	D	0	.	14.1992	0.65690	1.0:0.0:0.0:0.0	.	589;679;679;687;687	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	G	687;687;679;687;589	ENSP00000377990:V687G;ENSP00000354207:V687G;ENSP00000350356:V679G;ENSP00000347397:V687G;ENSP00000437773:V589G	ENSP00000347397:V687G	V	-	2	0	NTRK3	86273499	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.118000	0.94355	1.952000	0.56665	0.533000	0.62120	GTT	NTRK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140538		0.547	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0	60	0	A			88472495	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	missense	7.41	49	4	SNP	1.000	C	C	88472495	A	C	88472495	3	2	42	1	0	0	0	0	1	0	0	0	10747	43	2	4	475	4	NTRK3	15	88472495	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	11675273	88472495	14058897	151	10319											
C16orf62	57020	genome.wustl.edu	37	chr16	19663298	19663298	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttcttcccttctcctagGcctgtgttgcctactgcttc	2	18	7	14	0	2	0	0	0	2	0	5	0	3	0	4	1	3	3	4	1	2	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr16:19663298G>T	ENST00000251143.5	+	26	2119	c.2107G>T	c.(2107-2109)Gcc>Tcc	p.A703S	C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000438132.3_Splice_Site_p.A792S|C16orf62_ENST00000417362.2_Splice_Site_p.A610S|C16orf62_ENST00000448695.1_Splice_Site_p.A553S|C16orf62_ENST00000543152.1_Splice_Site_p.A452S|C16orf62_ENST00000542263.1_Splice_Site_p.A699S			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	703						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTTCTCCTAGGCCTGTGTTGC	0.498																																																	0													142	119	127					16																	19663298		2197	4300	6497	SO:0001630	splice_region_variant	0				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2107-1G>T	16.37:g.19663298G>T			A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.A792S	ENST00000251143.5	37	c.2374		16	.	.	.	.	.	.	.	.	.	.	G	31	5.073880	0.94000	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.65677	2.01	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.80764	0.99;0.994	T	0.72200	-0.4362	9	.	.	.	-26.0372	18.0345	0.89296	0.0:0.0:1.0:0.0	.	699;703	F5H7K1;Q7Z3J2	.;CP062_HUMAN	S	792;699;703;610;553	ENSP00000400815:A792S;ENSP00000442468:A699S;ENSP00000251143:A703S;ENSP00000395973:A610S;ENSP00000398009:A553S	.	A	+	1	0	C16orf62	19570799	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.119000	0.94362	2.865000	0.98341	0.655000	0.94253	GCC	C16orf62	-	NULL	ENSG00000103544		0.498	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	HGNC	protein_coding		-	0	46	0	G	NM_020314	Missense_Mutation	19663298	1	tier1	-	no_errors	ENST00000438132	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	19663298	G	T	19663298	5	4	42	1	0	0	0	0	0	0	1	0	1830	1217	42	3	2209	3	C16orf62	16	19663298	Splice_Site	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		19663298	70691455	152	10320											
ADCY7	113	genome.wustl.edu	37	chr16	50342672	50342672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggccgtcctgaccatcgGcagcctgctcactgtggcca	5	8	11	17	2	1	1	1	1	0	0	3	1	2	1	6	3	2	2	6	3	0	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr16:50342672G>A	ENST00000394697.2	+	17	2370	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D	ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.G677D|ADCY7_ENST00000538642.1_Missense_Mutation_p.G677D|ADCY7_ENST00000254235.3_Missense_Mutation_p.G677D			P51828	ADCY7_HUMAN	adenylate cyclase 7	677					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CTGACCATCGGCAGCCTGCTC	0.647																																																	0													49	45	46					16																	50342672		2198	4300	6498	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2030G>A	16.37:g.50342672G>A	ENSP00000378187:p.Gly677Asp		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G677D	ENST00000394697.2	37	c.2030	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429543	0.43122	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.81579	0.99;-1.51;-1.51	5.27	5.27	0.74061	.	0.000000	0.45361	U	0.000371	D	0.82688	0.5091	M	0.69823	2.125	0.80722	D	1	B;P	0.48230	0.161;0.907	B;P	0.48677	0.091;0.586	T	0.82655	-0.0350	10	0.40728	T	0.16	.	12.5493	0.56218	0.0:0.0:0.8334:0.1666	.	677;677	P51828;F5H4D1	ADCY7_HUMAN;.	D	677	ENSP00000445046:G677D;ENSP00000378187:G677D;ENSP00000254235:G677D	ENSP00000254235:G677D	G	+	2	0	ADCY7	48900173	0.999000	0.42202	0.996000	0.52242	0.526000	0.34562	2.208000	0.42797	2.467000	0.83353	0.561000	0.74099	GGC	ADCY7	-	NULL	ENSG00000121281		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0	93	0	G			50342672	1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.962	A	A	50342672	G	A	50342672	3	1	42	1	0	0	0	0	1	0	0	0	299	1203	42	3	2092	3	ADCY7	16	50342672	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	30679374	50342672	40012081	153	10321											
SALL1	6299	genome.wustl.edu	37	chr16	51173577	51173577	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggggcaaaggcgaagaGgataagctgtcttgggaggc	11	6	18	6	2	1	1	0	0	1	1	2	5	1	3	0	6	1	2	0	6	3	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr16:51173577G>T	ENST00000251020.4	-	2	2589	c.2556C>A	c.(2554-2556)tcC>tcA	p.S852S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.S755S|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	852					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGGCGAAGAGGATAAGCTGT	0.517																																					GBM(103;1352 1446 1855 4775 8890)												0													110	109	110					16																	51173577		2198	4300	6498	SO:0001819	synonymous_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2556C>A	16.37:g.51173577G>T			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S852	ENST00000251020.4	37	c.2556	CCDS10747.1	16																																																																																			SALL1	-	NULL	ENSG00000103449		0.517	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	47	0	G	NM_002968		51173577	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.121	T	T	51173577	G	T	51173577	2	4	42	1	0	0	0	0	0	0	0	1	13855	987	35	3		3	SALL1	16	51173577	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	830905	51173577	39181176	154	10322											
MTHFSD	64779	genome.wustl.edu	37	chr16	86575392	86575392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgtagtccacagtgatgtCgtgctcctcaacaagctctt	9	12	9	11	1	2	1	1	1	1	0	5	2	4	1	2	0	3	3	2	0	3	2	rs200301012		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr16:86575392C>T	ENST00000360900.6	-	7	617	c.592G>A	c.(592-594)Gac>Aac	p.D198N	MTHFSD_ENST00000543303.2_Missense_Mutation_p.D197N|MTHFSD_ENST00000546093.1_Missense_Mutation_p.D35N|MTHFSD_ENST00000381214.5_Missense_Mutation_p.D198N|MTHFSD_ENST00000322911.6_Missense_Mutation_p.D197N	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	198							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ACAGTGATGTCGTGCTCCTCA	0.582													C|||	1	0.000199681	0	0	5008	,	,		20314	0.001		0	False		,,,				2504	0																0													90	98	96					16																	86575392		2137	4255	6392	SO:0001583	missense	0			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.592G>A	16.37:g.86575392C>T	ENSP00000354152:p.Asp198Asn		A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D198N	ENST00000360900.6	37	c.592	CCDS54047.1	16	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.6	4.014509	0.75161	.	.	ENSG00000103248	ENST00000543303;ENST00000381214;ENST00000360900;ENST00000322911;ENST00000546093	D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87	5.57	5.57	0.84162	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	H	0.96720	3.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99605	1.0979	10	0.87932	D	0	-8.267	18.5465	0.91048	0.0:1.0:0.0:0.0	.	198;197;35;198;197	E9PAM1;B7ZLC0;B3KUB0;Q2M296;Q2M296-2	.;.;.;MTHSD_HUMAN;.	N	196;198;198;197;35	ENSP00000370612:D198N;ENSP00000354152:D198N;ENSP00000326777:D197N;ENSP00000438761:D35N	ENSP00000326777:D197N	D	-	1	0	MTHFSD	85132893	1.000000	0.71417	0.755000	0.31263	0.006000	0.05464	7.171000	0.77595	2.626000	0.88956	0.655000	0.94253	GAC	MTHFSD	-	pfam_FTHF_cligase	ENSG00000103248		0.582	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTHFSD	HGNC	protein_coding	OTTHUMT00000432182.1		0	20	0	C	NM_022764		86575392	-1			no_errors	ENST00000360900	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	86575392	C	T	86575392	3	4	42	1	0	0	0	0	1	0	0	0	9971	884	31	1	567	1	MTHFSD	16	86575392	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	35401815	86575392	3779361	155	10323											
RPAIN	84268	genome.wustl.edu	37	chr17	5329555	5329555	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctaattctgcttctaGgtacaacctgagaatcacaa	13	11	7	10	0	3	1	1	1	2	1	4	3	4	2	2	2	3	2	2	2	6	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:5329555G>T	ENST00000381209.3	+	5	995		c.e5-1		CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_Intron|RPAIN_ENST00000381208.5_Splice_Site|RPAIN_ENST00000405578.4_Splice_Site|RPAIN_ENST00000574003.1_Intron|RPAIN_ENST00000536255.2_Intron	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein						DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|protein import into nucleus (GO:0006606)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)	metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						TCTGCTTCTAGGTACAACCTG	0.488																																																	0													297	216	243					17																	5329555		2203	4300	6503	SO:0001630	splice_region_variant	0			AY775314	CCDS32536.1, CCDS54075.1, CCDS54076.1, CCDS54077.1, CCDS54079.1	17p13.2	2014-02-12	2006-05-08			ENSG00000129197			28641	protein-coding gene	gene with protein product						16135809, 16008515	Standard	NM_001033002		Approved	MGC4189, RIP, hRIP	uc010vsz.1	Q86UA6		ENST00000381209.3:c.426-1G>T	17.37:g.5329555G>T			B4DI36|B4DTX7|E9PES3|J3KNH8|Q4G2Y0|Q4G2Y5|Q4G2Y8|Q6B4V9|Q6B4W0|Q6B4W1|Q6B4W4|Q86X49|Q9BT00	Splice_Site	SNP	-	e5-1	ENST00000381209.3	37	c.426-1	CCDS32536.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964951	0.74131	.	.	ENSG00000129197	ENST00000381209;ENST00000381208;ENST00000405578	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7198	0.88348	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPAIN	5270279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.285000	0.72658	2.769000	0.95229	0.563000	0.77884	.	RPAIN	-	-	ENSG00000129197		0.488	RPAIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAIN	HGNC	protein_coding	OTTHUMT00000439373.1	-	0	98	0	G	NM_001033002	Intron	5329555	1	tier1	-	no_errors	ENST00000405578	ensembl	human	known	74_37	splice_site	5.05	94	5	SNP	1.000	T	T	5329555	G	T	5329555	5	4	42	1	0	0	0	0	0	0	1	0	13585	1014	35	3	443	3	RPAIN	17	5329555	Splice_Site	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		5329555	75865655	156	10324											
TP53	7157	genome.wustl.edu	37	chr17	7577498	7577498	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtggcaagtggctcctgaCctggagtcttccagtgtgat	6	11	15	9	0	1	2	0	2	1	0	3	3	3	3	3	4	0	2	3	4	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)											121	85	97					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>A	17.37:g.7577498C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6+1	ENST00000269305.4	37	c.782+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.	TP53	-	-	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	75	0	C	NM_000546	Intron	7577498	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	11.11	48	6	SNP	1.000	T	T	7577498	C	T	7577498	5	4	42	1	0	0	0	0	0	0	1	0	16429	521	18	3	507	3	TP53	17	7577498	Splice_Site	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	2247943	7577498	73617712	157	10325											
ZNF287	57336	genome.wustl.edu	37	chr17	16456419	16456419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgattgaaggttgccCtgccttcattatacacagaa	13	11	8	9	0	1	4	1	2	0	2	1	4	1	4	2	1	3	1	2	1	4	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:16456419C>T	ENST00000395824.1	-	6	1654	c.1037G>A	c.(1036-1038)aGg>aAg	p.R346K	ZNF287_ENST00000395825.3_Missense_Mutation_p.R346K			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	339					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GAAGGTTGCCCTGCCTTCATT	0.308																																																	0													72	69	70					17																	16456419		2203	4300	6503	SO:0001583	missense	0			AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"Zinc fingers, C2H2-type", "-", "-", "-"	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1037G>A	17.37:g.16456419C>T	ENSP00000379168:p.Arg346Lys		Q6IAG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R346K	ENST00000395824.1	37	c.1037	CCDS11179.2	17	.	.	.	.	.	.	.	.	.	.	C	1.772	-0.484178	0.04383	.	.	ENSG00000141040	ENST00000395825;ENST00000395824	T;T	0.04758	3.56;3.56	5.31	0.388	0.16264	.	0.556823	0.17630	N	0.167434	T	0.01835	0.0058	N	0.03608	-0.345	0.21147	N	0.999779	B	0.02656	0.0	B	0.01281	0.0	T	0.43442	-0.9391	10	0.37606	T	0.19	.	2.717	0.05190	0.3464:0.2528:0.0:0.4008	.	339	Q9HBT7	ZN287_HUMAN	K	346	ENSP00000379169:R346K;ENSP00000379168:R346K	ENSP00000379168:R346K	R	-	2	0	ZNF287	16397144	0.001000	0.12720	0.006000	0.13384	0.003000	0.03518	0.200000	0.17257	-0.001000	0.14495	0.650000	0.86243	AGG	ZNF287	-	NULL	ENSG00000141040		0.308	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF287	HGNC	protein_coding	OTTHUMT00000130504.1	-	0	50	0	C			16456419	-1	tier1	-	no_errors	ENST00000395824	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.798	T	T	16456419	C	T	16456419	3	4	42	1	0	0	0	0	1	0	0	0	17873	681	24	3	1252	3	ZNF287	17	16456419	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	8878921	16456419	64738791	158	10326											
GOSR1	9527	genome.wustl.edu	37	chr17	28837905	28837905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttatttgcagctcagatCgtctgatagaagagacaata	13	14	8	6	1	2	4	1	1	1	3	3	5	2	4	0	0	2	2	0	0	5	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:28837905C>T	ENST00000225724.5	+	7	595	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	GOSR1_ENST00000581721.1_Intron|GOSR1_ENST00000451249.2_Missense_Mutation_p.R173C|GOSR1_ENST00000467337.2_Missense_Mutation_p.R110C	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	175					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CAGCTCAGATCGTCTGATAGA	0.284																																																	0													84	91	89					17																	28837905		2203	4294	6497	SO:0001583	missense	0			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"golgi integral membrane protein 2"	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.523C>T	17.37:g.28837905C>T	ENSP00000225724:p.Arg175Cys		J3KST5|O75392	Missense_Mutation	SNP	NULL	p.R175C	ENST00000225724.5	37	c.523	CCDS11258.1	17	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856206	0.91355	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833	D;D	0.81908	-1.55;-1.55	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.91932	0.7445	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.92404	0.5932	10	0.66056	D	0.02	-10.4013	18.7644	0.91866	0.0:1.0:0.0:0.0	.	175;173	O95249;E9PCW1	GOSR1_HUMAN;.	C	175;173;110	ENSP00000225724:R175C;ENSP00000414441:R173C	ENSP00000225724:R175C	R	+	1	0	GOSR1	25862031	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.103000	0.71492	2.664000	0.90586	0.557000	0.71058	CGT	GOSR1	-	NULL	ENSG00000108587		0.284	GOSR1-001	KNOWN	basic|CCDS	protein_coding	GOSR1	HGNC	protein_coding	OTTHUMT00000256208.2	-	0	102	0	C			28837905	1	tier1	-	no_errors	ENST00000225724	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	28837905	C	T	28837905	3	4	42	1	0	0	0	0	1	0	0	0	6603	884	31	1	549	1	GOSR1	17	28837905	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	12381486	28837905	52357305	159	10327											
AATF	26574	genome.wustl.edu	37	chr17	35346670	35346670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttggcaaacctgagcCagcagctcagcctgtcccag	9	8	10	14	0	2	1	1	1	1	0	3	1	3	1	4	1	5	4	4	1	1	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:35346670C>A	ENST00000225402.5	+	7	1525	c.1274C>A	c.(1273-1275)cCa>cAa	p.P425Q		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	425	RB1 and SP1 binding.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				AAACCTGAGCCAGCAGCTCAG	0.473																																					NSCLC(49;901 1159 19183 41572 46244)												0													128	133	131					17																	35346670		2203	4300	6503	SO:0001583	missense	0			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1274C>A	17.37:g.35346670C>A	ENSP00000225402:p.Pro425Gln		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	pfam_AATF_C	p.P425Q	ENST00000225402.5	37	c.1274	CCDS32632.1	17	.	.	.	.	.	.	.	.	.	.	C	3.628	-0.076094	0.07184	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.2	3.14	0.36123	.	0.612651	0.17841	N	0.160191	T	0.18676	0.0448	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25502	-1.0130	9	0.12430	T	0.62	0.0385	4.0916	0.09972	0.2026:0.522:0.0:0.2754	.	425	Q9NY61	AATF_HUMAN	Q	425	.	ENSP00000225402:P425Q	P	+	2	0	AATF	32420783	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	0.661000	0.25023	0.519000	0.28406	0.467000	0.42956	CCA	AATF	-	NULL	ENSG00000108270		0.473	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1	-	0	49	0	C	NM_012138		35346670	1	tier1	-	no_errors	ENST00000225402	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.000	A	A	35346670	C	A	35346670	3	1	42	1	0	0	0	0	1	0	0	0	25	594	21	3	1300	3	AATF	17	35346670	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	6508765	35346670	45848540	160	10328											
PIP4K2B	8396	genome.wustl.edu	37	chr17	36936743	36936743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgtgcatctccgccaCgtcctcgctggacacagtct	6	11	10	14	3	2	0	0	0	2	0	5	2	3	1	3	1	1	3	3	1	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:36936743C>T	ENST00000269554.3	-	4	949	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	157	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)	p.V157L(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ATCTCCGCCACGTCCTCGCTG	0.582																																																	1	Substitution - Missense(1)	ovary(1)											100	89	93					17																	36936743		2203	4300	6503	SO:0001583	missense	0			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.469G>A	17.37:g.36936743C>T	ENSP00000269554:p.Val157Met		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.V157M	ENST00000269554.3	37	c.469	CCDS11329.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684665	0.88639	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.37235	1.21	5.21	5.21	0.72293	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.056354	0.64402	D	0.000001	T	0.58722	0.2142	M	0.67700	2.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.71870	0.975;0.968;0.853	T	0.58358	-0.7650	10	0.52906	T	0.07	-20.3191	17.4822	0.87675	0.0:1.0:0.0:0.0	.	157;157;157	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	M	157	ENSP00000269554:V157M	ENSP00000269554:V157M	V	-	1	0	PIP4K2B	34190269	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.360000	0.59455	2.716000	0.92895	0.561000	0.74099	GTG	PIP4K2B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000141720		0.582	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1		0	66	0	C	NM_003559		36936743	-1			no_errors	ENST00000269554	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	36936743	C	T	36936743	3	4	42	1	0	0	0	0	1	0	0	0	11976	536	19	1	809	1	PIP4K2B	17	36936743	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1590073	36936743	44258467	161	10329											
ETV4	2118	genome.wustl.edu	37	chr17	41607045	41607045	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcctgcttgatgtctcCtggggaacacgaaaatagga	10	10	10	11	1	1	1	0	1	1	0	3	4	2	3	3	3	2	1	3	3	4	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:41607045C>T	ENST00000319349.5	-	11	1254		c.e11-1		ETV4_ENST00000545954.1_Splice_Site|ETV4_ENST00000586826.1_Splice_Site|ETV4_ENST00000538265.1_Splice_Site|ETV4_ENST00000545089.1_Splice_Site|ETV4_ENST00000591713.1_Splice_Site|ETV4_ENST00000393664.2_Splice_Site	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4						branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		TTGATGTCTCCTGGGGAACAC	0.612			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	0													49	55	53					17																	41607045		2203	4300	6503	SO:0001630	splice_region_variant	0			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.956-1G>A	17.37:g.41607045C>T			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Splice_Site	SNP	-	e10-1	ENST00000319349.5	37	c.956-1	CCDS11465.1	17	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048011	0.55110	.	.	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ETV4	38962571	1.000000	0.71417	1.000000	0.80357	0.150000	0.21749	6.055000	0.71103	2.941000	0.99782	0.655000	0.94253	.	ETV4	-	-	ENSG00000175832		0.612	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	-	0	54	0	C	NM_001986	Intron	41607045	-1	tier1	-	no_errors	ENST00000319349	ensembl	human	known	74_37	splice_site	8.57	64	6	SNP	1.000	T	T	41607045	C	T	41607045	5	4	42	1	0	0	0	0	0	0	1	0	5297	695	24	3	511	3	ETV4	17	41607045	Splice_Site	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	4670302	41607045	39588165	162	10330											
TMEM101	84336	genome.wustl.edu	37	chr17	42089360	42089360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctctccaaggagcttcAtctggttccagaactcaaca	11	10	6	14	0	4	1	2	0	2	1	7	2	6	2	2	2	3	2	2	2	3	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:42089360A>G	ENST00000589334.1	-	5	1025	c.710T>C	c.(709-711)aTg>aCg	p.M237T	TMEM101_ENST00000206380.3_Missense_Mutation_p.M237T|TMEM101_ENST00000542039.1_Missense_Mutation_p.M179T			Q96IK0	TM101_HUMAN	transmembrane protein 101	237					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGGAGCTTCATCTGGTTCCA	0.557																																																	0													103	88	93					17																	42089360		2203	4300	6503	SO:0001583	missense	0			AK172826	CCDS11474.1	17q21.31	2005-12-16							28653	protein-coding gene	gene with protein product						12761501	Standard	NM_032376		Approved	MGC4251, FLJ23987	uc002ieu.3	Q96IK0		ENST00000589334.1:c.710T>C	17.37:g.42089360A>G	ENSP00000468025:p.Met237Thr		B2R9N6	Missense_Mutation	SNP	NULL	p.M237T	ENST00000589334.1	37	c.710	CCDS11474.1	17	.	.	.	.	.	.	.	.	.	.	A	17.37	3.372318	0.61624	.	.	ENSG00000091947	ENST00000206380;ENST00000542039	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.46502	0.1396	L	0.29908	0.895	0.80722	D	1	B	0.31290	0.318	B	0.29176	0.099	T	0.49818	-0.8899	9	0.62326	D	0.03	-12.6751	13.6738	0.62440	1.0:0.0:0.0:0.0	.	237	Q96IK0	TM101_HUMAN	T	237;179	.	ENSP00000206380:M237T	M	-	2	0	TMEM101	39444886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.202000	0.95026	2.113000	0.64589	0.397000	0.26171	ATG	TMEM101	-	NULL	ENSG00000091947		0.557	TMEM101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM101	HGNC	protein_coding	OTTHUMT00000457665.1		0	41	0	A	NM_032376		42089360	-1			no_errors	ENST00000206380	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G	G	42089360	A	G	42089360	3	3	42	1	0	0	0	0	1	0	0	0	16063	217	8	4	67	4	TMEM101	17	42089360	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	482315	42089360	39105850	163	10331											
NFE2L1	4779	genome.wustl.edu	37	chr17	46136806	46136806	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagttcctgcgctccctgCgacagatgaagcagaaggtc	9	8	13	11	2	0	3	0	1	0	2	3	5	2	4	2	2	3	3	2	2	2	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:46136806C>T	ENST00000362042.3	+	6	2738	c.2122C>T	c.(2122-2124)Cga>Tga	p.R708*	NFE2L1_ENST00000582155.1_Nonsense_Mutation_p.R520*|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Nonsense_Mutation_p.R678*|NFE2L1_ENST00000361665.3_Nonsense_Mutation_p.R697*|NFE2L1_ENST00000583378.1_Nonsense_Mutation_p.R509*|NFE2L1_ENST00000536222.1_Nonsense_Mutation_p.R552*|NFE2L1_ENST00000357480.5_Nonsense_Mutation_p.R678*	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	708	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCTCCCTGCGACAGATGAA	0.602																																																	0													80	82	81					17																	46136806		2203	4300	6503	SO:0001587	stop_gained	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2122C>T	17.37:g.46136806C>T	ENSP00000354855:p.Arg708*		D3DTU3|D3DTU5|Q12877|Q96FN6	Nonsense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R708*	ENST00000362042.3	37	c.2122	CCDS11524.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.661839	0.98419	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	.	.	.	5.89	5.89	0.94794	.	0.175668	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-8.0756	19.0276	0.92939	0.0:1.0:0.0:0.0	.	.	.	.	X	727;708;678;552	.	ENSP00000350072:R678X	R	+	1	2	NFE2L1	43491805	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.829000	0.69316	2.797000	0.96272	0.563000	0.77884	CGA	NFE2L1	-	pfam_bZIP,smart_bZIP,pfscan_bZIP	ENSG00000082641		0.602	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	-	0	37	0	C	NM_003204		46136806	1	tier1	-	no_errors	ENST00000362042	ensembl	human	known	74_37	nonsense	14.71	29	5	SNP	1.000	T	T	46136806	C	T	46136806	4	4	42	1	0	0	0	0	0	1	0	0	10406	760	27	1	2140	1	NFE2L1	17	46136806	Nonsense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	4047446	46136806	35058404	164	10332											
METTL2A	339175	genome.wustl.edu	37	chr17	60518003	60518003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatatgatccttctcGgtgttttgcctttgttcacg	6	18	8	9	2	3	2	2	1	1	1	5	2	4	2	2	1	1	2	2	1	2	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:60518003G>A	ENST00000311506.5	+	6	731	c.695G>A	c.(694-696)cGg>cAg	p.R232Q		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	232					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GATCCTTCTCGGTGTTTTGCC	0.368																																																	0													190	180	183					17																	60518003		2203	4300	6503	SO:0001583	missense	0			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.695G>A	17.37:g.60518003G>A	ENSP00000309610:p.Arg232Gln		A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase	p.R232Q	ENST00000311506.5	37	c.695	CCDS45752.1	17	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843154	0.71488	.	.	ENSG00000087995	ENST00000311506	T	0.04603	3.59	4.73	4.73	0.59995	Methyltransferase type 12 (1);	0.000000	0.85682	D	0.000000	T	0.14184	0.0343	M	0.63428	1.95	0.80722	D	1	P	0.52577	0.954	P	0.55713	0.782	T	0.03202	-1.1061	10	0.30078	T	0.28	-0.0107	16.7058	0.85371	0.0:0.0:1.0:0.0	.	232	Q96IZ6	MTL2A_HUMAN	Q	232	ENSP00000309610:R232Q	ENSP00000309610:R232Q	R	+	2	0	METTL2A	57871735	1.000000	0.71417	0.983000	0.44433	0.538000	0.34931	9.401000	0.97294	2.348000	0.79779	0.586000	0.80456	CGG	METTL2A	-	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase	ENSG00000087995		0.368	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	HGNC	protein_coding	OTTHUMT00000445130.1	-	0	65	0	G	NM_181725		60518003	1	tier1	-	no_errors	ENST00000311506	ensembl	human	known	74_37	missense	13.58	70	11	SNP	1.000	A	A	60518003	G	A	60518003	3	1	42	1	0	0	0	0	1	0	0	0	9537	1116	39	1	717	1	METTL2A	17	60518003	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	14381197	60518003	20677207	165	10333											
DNAH17	8632	genome.wustl.edu	37	chr17	76562801	76562801	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaaatcagcataatcAcggtcaaaattctaaaagca	19	9	4	9	1	5	0	4	0	2	0	6	0	5	0	0	1	2	2	0	1	7	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:76562801A>G	ENST00000585328.1	-	11	1588	c.1464T>C	c.(1462-1464)cgT>cgC	p.R488R	DNAH17_ENST00000389840.5_Silent_p.R488R	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	488	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGCATAATCACGGTCAAAAT	0.483																																																	0													57	54	55					17																	76562801		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1464T>C	17.37:g.76562801A>G			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.R488	ENST00000585328.1	37	c.1464		17																																																																																			DNAH17	-	pfam_Dynein_heavy_dom-1	ENSG00000187775		0.483	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2		0	45	0	A	NM_173628		76562801	-1			no_errors	ENST00000389840	ensembl	human	known	74_37	silent	8.16	44	4	SNP	0.000	G	G	76562801	A	G	76562801	2	3	42	1	0	0	0	0	0	0	0	1	4615	146	6	4		4	DNAH17	17	76562801	Silent	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	16044798	76562801	4632409	166	10334											
CCDC40	55036	genome.wustl.edu	37	chr17	78055517	78055517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaccaagcaggtggccCtgcagagccagttcaatacc	10	6	11	14	0	1	2	1	1	0	1	1	2	1	2	5	2	4	3	5	2	3	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:78055517C>A	ENST00000397545.4	+	11	1762	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M	CCDC40_ENST00000374877.3_Missense_Mutation_p.L579M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	579					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGGTGGCCCTGCAGAGCCA	0.617																																																	0													34	40	38					17																	78055517		2093	4218	6311	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1735C>A	17.37:g.78055517C>A	ENSP00000380679:p.Leu579Met		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.L579M	ENST00000397545.4	37	c.1735	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683135	0.47991	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.58210	0.35;0.37	5.25	2.19	0.27852	.	.	.	.	.	T	0.62245	0.2412	M	0.82923	2.615	0.36986	D	0.894544	D;D	0.63046	0.963;0.992	P;P	0.56042	0.621;0.79	T	0.64748	-0.6334	9	0.45353	T	0.12	-25.582	4.5562	0.12138	0.1451:0.4814:0.0:0.3735	.	579;362	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	579	ENSP00000364011:L579M;ENSP00000380679:L579M	ENSP00000364011:L579M	L	+	1	2	CCDC40	75670112	0.009000	0.17119	0.960000	0.40013	0.822000	0.46500	0.088000	0.14979	0.589000	0.29677	0.655000	0.94253	CTG	CCDC40	-	NULL	ENSG00000141519		0.617	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2		0	42	0	C	XM_371082		78055517	1			no_errors	ENST00000397545	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.865	A	A	78055517	C	A	78055517	3	1	42	1	0	0	0	0	1	0	0	0	2819	680	24	3	1777	3	CCDC40	17	78055517	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1492716	78055517	3139693	167	10335											
RPTOR	57521	genome.wustl.edu	37	chr17	78797005	78797005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgcgtctgccgcccaCgtacatgcacgccatgtggt	6	7	11	17	5	1	0	0	0	1	0	1	0	1	0	4	1	4	2	4	1	1	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:78797005C>T	ENST00000306801.3	+	9	1480	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	RPTOR_ENST00000570891.1_Missense_Mutation_p.T373M|RPTOR_ENST00000537330.1_Missense_Mutation_p.T188M|RPTOR_ENST00000544334.2_Missense_Mutation_p.T373M|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	373					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTGCCGCCCACGTACATGCAC	0.567																																																	0													85	89	88					17																	78797005		2203	4300	6503	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1118C>T	17.37:g.78797005C>T	ENSP00000307272:p.Thr373Met		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.T373M	ENST00000306801.3	37	c.1118	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252334	0.59212	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.52754	0.65;0.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	L	0.51853	1.615	0.80722	D	1	D;P;D	0.89917	1.0;0.468;0.999	D;B;P	0.83275	0.996;0.035;0.73	T	0.60622	-0.7227	10	0.35671	T	0.21	.	19.1163	0.93343	0.0:1.0:0.0:0.0	.	373;188;373	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	M	188;373;373	ENSP00000307272:T373M;ENSP00000442479:T373M	ENSP00000307272:T373M	T	+	2	0	RPTOR	76411600	1.000000	0.71417	0.156000	0.22583	0.116000	0.19942	7.418000	0.80167	2.513000	0.84729	0.650000	0.86243	ACG	RPTOR	-	NULL	ENSG00000141564		0.567	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1		0	45	0	C	NM_020761		78797005	1			no_errors	ENST00000306801	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.996	T	T	78797005	C	T	78797005	3	4	42	1	0	0	0	0	1	0	0	0	13710	536	19	1	1152	1	RPTOR	17	78797005	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	741488	78797005	2398205	168	10336											
BAHCC1	57597	genome.wustl.edu	37	chr17	79428891	79428891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccacggtggctggcaccgGtgcgggctcaggccccagca	5	4	17	15	3	1	0	1	0	0	0	1	0	1	0	4	7	2	4	4	7	0	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr17:79428891G>T	ENST00000307745.7	+	30	7202	c.7202G>T	c.(7201-7203)gGt>gTt	p.G2401V	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTGGCACCGGTGCGGGCTCA	0.697																																																	0													7	9	8					17																	79428891		2101	4167	6268	SO:0001583	missense	0																														ENST00000307745.7:c.7202G>T	17.37:g.79428891G>T	ENSP00000303486:p.Gly2401Val			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G2401V	ENST00000307745.7	37	c.7202		17	.	.	.	.	.	.	.	.	.	.	G	6.877	0.531130	0.13127	.	.	ENSG00000171282	ENST00000307745	T	0.11604	2.76	2.9	1.89	0.25635	.	0.000000	0.35585	N	0.003111	T	0.24005	0.0581	M	0.63843	1.955	0.09310	N	0.999996	D;D	0.76494	0.999;0.999	D;D	0.74674	0.946;0.984	T	0.01444	-1.1353	10	0.59425	D	0.04	.	7.767	0.28986	0.0:0.2604:0.7396:0.0	.	2401;2401	Q9P281;F8WBW8	BAHC1_HUMAN;.	V	2401	ENSP00000303486:G2401V	ENSP00000303486:G2401V	G	+	2	0	AC110285.1	77043486	0.001000	0.12720	0.005000	0.12908	0.002000	0.02628	0.174000	0.16743	0.737000	0.32582	0.491000	0.48974	GGT	RP11-1055B8.7	-	NULL	ENSG00000171282		0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding		-	0	96	0	G			79428891	1	tier1	-	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.007	T	T	79428891	G	T	79428891	3	4	42	1	0	0	0	0	1	0	0	0	1297	1261	44	3	7135	3	BAHCC1	17	79428891	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	631886	79428891	1766319	169	10337											
YES1	7525	genome.wustl.edu	37	chr18	745953	745953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaatattcatacctttaGttgtttcactctctcttact	10	19	2	10	0	4	0	2	0	2	0	5	0	4	0	1	0	3	2	1	0	6	9			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr18:745953G>T	ENST00000584307.1	-	5	739	c.569C>A	c.(568-570)aCt>aAt	p.T190N	YES1_ENST00000314574.4_Missense_Mutation_p.T190N|YES1_ENST00000577961.1_Missense_Mutation_p.T195N			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	190	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CATACCTTTAGTTGTTTCACT	0.313																																																	0													38	39	39					18																	745953		2198	4293	6491	SO:0001583	missense	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.569C>A	18.37:g.745953G>T	ENSP00000462468:p.Thr190Asn		A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.T190N	ENST00000584307.1	37	c.569	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347768	0.82022	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.88741	-2.42	5.7	5.7	0.88788	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	N	0.21545	0.675	0.80722	D	1	B	0.13145	0.007	B	0.23716	0.048	T	0.77955	-0.2393	10	0.38643	T	0.18	.	19.8338	0.96646	0.0:0.0:1.0:0.0	.	190	P07947	YES_HUMAN	N	190	ENSP00000324740:T190N	ENSP00000324740:T190N	T	-	2	0	YES1	735953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.737000	0.98831	2.692000	0.91855	0.591000	0.81541	ACT	YES1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000176105		0.313	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0	94	0	G	NM_005433		745953	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T	T	745953	G	T	745953	3	4	42	1	0	0	0	0	1	0	0	0	17523	1029	36	3	1094	3	YES1	18	745953	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		745953	77331295	170	10338											
ZNF397	84307	genome.wustl.edu	37	chr18	32822582	32822582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aatcctgccaagaattgtttCgtcagcaattcagaaaattt	14	13	6	8	1	2	2	2	0	0	2	4	2	3	2	2	0	2	2	2	0	6	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr18:32822582C>G	ENST00000330501.7	+	2	301	c.148C>G	c.(148-150)Cgt>Ggt	p.R50G	ZNF397_ENST00000591206.1_Missense_Mutation_p.R50G|ZNF397_ENST00000261333.6_Missense_Mutation_p.R50G|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000585800.1_Missense_Mutation_p.R50G|ZNF397_ENST00000355632.4_Missense_Mutation_p.R50G|ZNF397_ENST00000592264.1_Missense_Mutation_p.R50G	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	50	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AGAATTGTTTCGTCAGCAATT	0.453																																																	0													53	59	57					18																	32822582		2203	4300	6503	SO:0001583	missense	0			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"-", "Zinc fingers, C2H2-type"	18818	protein-coding gene	gene with protein product		609601	"zinc finger protein 47"	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.148C>G	18.37:g.32822582C>G	ENSP00000331577:p.Arg50Gly		Q9BRM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R50G	ENST00000330501.7	37	c.148	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550495	0.65311	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.07688	3.17;3.17;3.17	4.19	4.19	0.49359	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.34460	N	0.003941	T	0.43612	0.1255	H	0.98629	4.285	0.34323	D	0.686859	D;D;D;D	0.71674	0.997;0.997;0.996;0.998	D;D;D;D	0.81914	0.995;0.961;0.992;0.95	T	0.70439	-0.4871	10	0.87932	D	0	.	12.2995	0.54866	0.0:1.0:0.0:0.0	.	50;50;50;50	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	G	50	ENSP00000261333:R50G;ENSP00000331577:R50G;ENSP00000347850:R50G	ENSP00000261333:R50G	R	+	1	0	ZNF397	31076580	0.999000	0.42202	0.999000	0.59377	0.948000	0.59901	0.848000	0.27710	2.620000	0.88729	0.591000	0.81541	CGT	ZNF397	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000186812		0.453	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	-	0	61	0	C	NM_032347		32822582	1	tier1	-	no_errors	ENST00000330501	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	G	G	32822582	C	G	32822582	3	3	42	1	0	0	0	0	1	0	0	0	17931	884	31	5	150	5	ZNF397	18	32822582	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	32076629	32822582	45254666	171	10339											
DCC	1630	genome.wustl.edu	37	chr18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcttttgcagctgtcGtgagcgccatcccggtgcca	4	14	10	13	3	1	1	0	1	1	0	3	1	2	1	3	1	4	2	3	1	0	4	rs201242417		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr18:51013172G>A	ENST00000442544.2	+	26	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	DCC_ENST00000581580.1_Missense_Mutation_p.V883M|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1248					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488																																																	1	Substitution - Missense(1)	urinary_tract(1)											96	88	90					18																	51013172		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3742G>A	18.37:g.51013172G>A	ENSP00000389140:p.Val1248Met			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1248M	ENST00000442544.2	37	c.3742	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797157	0.31777	.	.	ENSG00000187323	ENST00000442544	T	0.52526	0.66	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000014	T	0.65626	0.2709	L	0.56769	1.78	0.54753	D	0.999983	D	0.76494	0.999	D	0.75484	0.986	T	0.63242	-0.6681	10	0.39692	T	0.17	-6.2316	17.8261	0.88666	0.0:0.0:1.0:0.0	.	1248	P43146	DCC_HUMAN	M	1248	ENSP00000389140:V1248M	ENSP00000389140:V1248M	V	+	1	0	DCC	49267170	1.000000	0.71417	0.962000	0.40283	0.522000	0.34438	8.174000	0.89682	2.499000	0.84300	0.462000	0.41574	GTG	DCC	-	pfam_Neogenin_C	ENSG00000187323		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3		0	71	0	G	NM_005215		51013172	1			no_errors	ENST00000442544	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.999	A	A	51013172	G	A	51013172	3	1	42	1	0	0	0	0	1	0	0	0	4291	1145	40	1	3844	1	DCC	18	51013172	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	18190590	51013172	27064076	172	10340											
ODF3L2	284451	genome.wustl.edu	37	chr19	464029	464029	+	Frame_Shift_Del	DEL	G	G	-																															ctccaggggtcgcggggcccGgggccgccccagcatggtga																										TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:464029delG	ENST00000315489.4	-	4	920	c.685delC	c.(685-687)cggfs	p.R229fs	ODF3L2_ENST00000382696.3_Frame_Shift_Del_p.R193fs	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	229	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						cgcggggcccggggccgcccc	0.697																																																	0													8	11	10					19																	464029		2156	4242	6398	SO:0001589	frameshift_variant	0			AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 19"	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.685delC	19.37:g.464029delG	ENSP00000318029:p.Arg229fs		Q3SX65|Q8N1L2	Frame_Shift_Del	DEL	pfam_SHIPPO-rpt	p.R229fs	ENST00000315489.4	37	c.685	CCDS12027.1	19																																																																																			ODF3L2	-	NULL	ENSG00000181781		0.697	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ODF3L2	HGNC	protein_coding	OTTHUMT00000451849.2		0	42	0	G	NM_182577		464029	-1	tier1		no_errors	ENST00000315489	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	0.010	-	-	464029	G	-	464029	7	5	42	1	0	1	0	1	0	0	0	0	10871	1115	39	0	188	0	ODF3L2	19	464029	Frame_Shift_Del	DEL	G	TCGA-JY-A939-01A-12D-A37C-09		464029	58664954	173	10341											
PRAM1	84106	genome.wustl.edu	37	chr19	8563310	8563310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatatccacgggccccGggggcagcgggggcttggct	4	7	17	13	3	1	0	0	0	1	0	2	0	2	0	3	6	2	4	3	6	1	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:8563310G>A	ENST00000423345.4	-	2	1902	c.1382C>T	c.(1381-1383)cCg>cTg	p.P461L	PRAM1_ENST00000255612.3_Missense_Mutation_p.P461L			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	509	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CACGGGCCCCGGGGGCAGCGG	0.736																																																	0													6	7	7					19																	8563310		1791	3895	5686	SO:0001583	missense	0			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1382C>T	19.37:g.8563310G>A	ENSP00000408342:p.Pro461Leu		Q8N6W7	Missense_Mutation	SNP	superfamily_SH3_domain	p.P461L	ENST00000423345.4	37	c.1382	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321318	0.41096	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.64803	-0.12;-0.05	4.4	0.778	0.18543	.	0.184721	0.26824	N	0.022302	T	0.70552	0.3237	L	0.60455	1.87	0.39970	D	0.974785	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69476	-0.5135	10	0.72032	D	0.01	.	8.026	0.30438	0.0:0.1564:0.5203:0.3233	.	461;509	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	L	461	ENSP00000255612:P461L;ENSP00000408342:P461L	ENSP00000255612:P461L	P	-	2	0	PRAM1	8469310	1.000000	0.71417	0.894000	0.35097	0.145000	0.21501	3.984000	0.56923	0.143000	0.18926	0.462000	0.41574	CCG	PRAM1	-	NULL	ENSG00000133246		0.736	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	-	0	50	0	G	NM_032152		8563310	-1	tier1	-	no_errors	ENST00000423345	ensembl	human	known	74_37	missense	18.00	40	9	SNP	0.869	A	A	8563310	G	A	8563310	3	1	42	1	0	0	0	0	1	0	0	0	12465	1116	39	1	663	1	PRAM1	19	8563310	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	8099281	8563310	50565673	174	10342											
MUC16	94025	genome.wustl.edu	37	chr19	9057288	9057288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatgcctggggtgaggAgtgaagtcacagaaaaagag	14	6	14	7	0	2	4	2	2	0	2	2	5	2	5	2	3	1	0	2	3	3	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:9057288A>G	ENST00000397910.4	-	3	30361	c.30158T>C	c.(30157-30159)cTc>cCc	p.L10053P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10055	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGGTGAGGAGTGAAGTCAC	0.483																																																	0													79	73	75					19																	9057288		1961	4156	6117	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30158T>C	19.37:g.9057288A>G	ENSP00000381008:p.Leu10053Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L10053P	ENST00000397910.4	37	c.30158	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	3.641	-0.073533	0.07184	.	.	ENSG00000181143	ENST00000397910	T	0.28255	1.62	2.39	0.232	0.15381	.	.	.	.	.	T	0.18215	0.0437	N	0.24115	0.695	.	.	.	B	0.15141	0.012	B	0.18871	0.023	T	0.18999	-1.0319	8	0.87932	D	0	.	4.4942	0.11828	0.6728:0.0:0.3272:0.0	.	10053	B5ME49	.	P	10053	ENSP00000381008:L10053P	ENSP00000381008:L10053P	L	-	2	0	MUC16	8918288	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.997000	0.03705	-0.020000	0.14032	0.383000	0.25322	CTC	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	42	0	A	NM_024690		9057288	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.000	G	G	9057288	A	G	9057288	3	3	42	1	0	0	0	0	1	0	0	0	10011	304	11	4	13693	4	MUC16	19	9057288	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	493978	9057288	50071695	175	10343											
PDE4A	5141	genome.wustl.edu	37	chr19	10543166	10543166	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccctgccctggcactgcCccccacgggccccgagtccc	3	4	10	24	2	0	0	0	0	0	0	1	1	1	0	9	2	2	1	9	2	0	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:10543166C>T	ENST00000352831.6	+	1	430				PDE4A_ENST00000592685.1_Intron|PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000293683.5_Intron|PDE4A_ENST00000440014.2_Missense_Mutation_p.P19L	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	CTGGCACTGCCCCCCACGGGC	0.766																																																	0													5	7	6					19																	10543166		662	1543	2205	SO:0001627	intron_variant	0				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.320+11406C>T	19.37:g.10543166C>T			O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.P19L	ENST00000352831.6	37	c.56	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880353	0.72294	.	.	ENSG00000065989	ENST00000440014	T	0.66280	-0.2	3.39	3.39	0.38822	.	.	.	.	.	T	0.64951	0.2645	.	.	.	0.80722	D	1	P	0.51351	0.944	P	0.49853	0.624	T	0.69427	-0.5148	8	0.87932	D	0	.	10.2013	0.43084	0.0:1.0:0.0:0.0	.	19	P27815-6	.	L	19	ENSP00000394754:P19L	ENSP00000394754:P19L	P	+	2	0	PDE4A	10404166	0.981000	0.34729	0.988000	0.46212	0.869000	0.49853	2.416000	0.44644	1.727000	0.51537	0.449000	0.29647	CCC	PDE4A	-	NULL	ENSG00000065989		0.766	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	-	0	30	0	C			10543166	1	tier1	-	no_errors	ENST00000440014	ensembl	human	known	74_37	missense	12.82	33	5	SNP	1.000	T	T	10543166	C	T	10543166	1	4	42	0	1	0	0	0	0	0	0	0	11678	623	22	3		3	PDE4A	19	10543166	Intron	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	1485878	10543166	48585817	176	10344											
LPPR2	64748	genome.wustl.edu	37	chr19	11470601	11470601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcctgctgccgcttcagCcccccagtgcggaggctggt	3	7	16	15	2	1	0	1	0	0	0	1	1	1	1	5	5	4	3	5	5	0	1	rs201978882		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:11470601C>T	ENST00000251473.5	+	5	736	c.360C>T	c.(358-360)agC>agT	p.S120S	DKFZP761J1410_ENST00000591608.1_Silent_p.S95S	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGCTTCAGCCCCCCAGTGC	0.627																																																	0													34	35	35					19																	11470601		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000251473.5:c.360C>T	19.37:g.11470601C>T				Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.S95	ENST00000251473.5	37	c.285	CCDS12258.1	19																																																																																			DKFZP761J1410	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000105520		0.627	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR2	Uniprot_gn	protein_coding	OTTHUMT00000458779.1	-	0	63	0	C			11470601	1	tier1	rs201978882	no_errors	ENST00000591608	ensembl	human	known	74_37	silent	8.70	63	6	SNP	0.998	T	T	11470601	C	T	11470601	2	4	42	1	0	0	0	0	0	0	0	1	8960	738	26	3		3	LPPR2	19	11470601	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	927435	11470601	47658382	177	10345											
MYO9B	4650	genome.wustl.edu	37	chr19	17212666	17212666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcaccacctcggacGtcatcaaggacgccattgcc	11	5	10	15	3	2	0	2	0	0	0	3	3	2	3	4	3	2	1	4	3	1	1	rs570386608		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:17212666G>A	ENST00000594824.1	+	2	286	c.139G>A	c.(139-141)Gtc>Atc	p.V47I	MYO9B_ENST00000397274.2_Missense_Mutation_p.V47I|CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000595618.1_Missense_Mutation_p.V47I			Q13459	MYO9B_HUMAN	myosin IXB	47	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CACCTCGGACGTCATCAAGGA	0.642													G|||	1	0.000199681	0	0	5008	,	,		18251	0.001		0	False		,,,				2504	0																0													46	51	49					19																	17212666		2150	4250	6400	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.139G>A	19.37:g.17212666G>A	ENSP00000471367:p.Val47Ile		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.V47I	ENST00000594824.1	37	c.139		19	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151997	0.57151	.	.	ENSG00000099331	ENST00000397274	T	0.35789	1.29	4.93	4.93	0.64822	Ras-association (3);	0.000000	0.43416	D	0.000573	T	0.51584	0.1683	L	0.52266	1.64	0.51233	D	0.999915	D;D;D	0.89917	0.969;0.969;1.0	P;P;D	0.74023	0.771;0.771;0.982	T	0.39583	-0.9607	10	0.13470	T	0.59	.	17.1436	0.86760	0.0:0.0:1.0:0.0	.	47;47;53	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	I	47	ENSP00000380444:V47I	ENSP00000380444:V47I	V	+	1	0	MYO9B	17073666	1.000000	0.71417	0.976000	0.42696	0.070000	0.16714	9.459000	0.97638	2.264000	0.75181	0.655000	0.94253	GTC	MYO9B	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000099331		0.642	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	-	0	44	0	G			17212666	1	tier1	-	no_errors	ENST00000594824	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	A	A	17212666	G	A	17212666	3	1	42	1	0	0	0	0	1	0	0	0	10123	1145	40	1	141	1	MYO9B	19	17212666	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	5742065	17212666	41916317	178	10346											
SLC5A5	6528	genome.wustl.edu	37	chr19	17988836	17988836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgctgcctgctgtggcatCgtcatgtttgtgttctacac	5	14	11	11	2	2	0	1	0	1	0	3	0	2	0	1	1	4	5	1	1	1	3	rs550545031		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:17988836C>T	ENST00000222248.3	+	7	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	301					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTGTGGCATCGTCATGTTTG	0.627																																					Melanoma(65;1008 1708 7910 46650)												0													118	84	95					19																	17988836		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"Solute carriers"	11040	protein-coding gene	gene with protein product		601843	"solute carrier family 5 (sodium iodide symporter), member 5"			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.903C>T	19.37:g.17988836C>T			O43702|Q2M335|Q9NYB6	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I301	ENST00000222248.3	37	c.903	CCDS12368.1	19																																																																																			SLC5A5	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000105641		0.627	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	-	0	47	0	C			17988836	1	tier1	-	no_errors	ENST00000222248	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.295	T	T	17988836	C	T	17988836	2	4	42	1	0	0	0	0	0	0	0	1	14713	874	31	1		1	SLC5A5	19	17988836	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	776170	17988836	41140147	179	10347											
ANKRD27	84079	genome.wustl.edu	37	chr19	33130348	33130348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatcccagttcatcctttgCcaagctgctaaacctgaagt	10	12	7	12	0	1	1	1	1	0	0	3	1	3	1	4	0	4	4	4	0	5	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:33130348C>A	ENST00000306065.4	-	12	1188	c.1030G>T	c.(1030-1032)Gca>Tca	p.A344S	ANKRD27_ENST00000587352.1_Missense_Mutation_p.A344S	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	344	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TCATCCTTTGCCAAGCTGCTA	0.428																																																	0													166	154	158					19																	33130348		2203	4300	6503	SO:0001583	missense	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1030G>T	19.37:g.33130348C>A	ENSP00000304292:p.Ala344Ser		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.A344S	ENST00000306065.4	37	c.1030	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	C	5.139	0.211249	0.09757	.	.	ENSG00000105186	ENST00000306065	T	0.29142	1.58	4.93	1.55	0.23275	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.339974	0.25101	N	0.033121	T	0.09992	0.0245	N	0.02142	-0.665	0.20074	N	0.999937	B	0.21520	0.057	B	0.20955	0.032	T	0.24190	-1.0167	10	0.30078	T	0.28	-7.5276	5.8318	0.18584	0.0:0.6328:0.1415:0.2257	.	344	Q96NW4	ANR27_HUMAN	S	344	ENSP00000304292:A344S	ENSP00000304292:A344S	A	-	1	0	ANKRD27	37822188	0.573000	0.26676	0.237000	0.24090	0.713000	0.41058	1.117000	0.31234	0.571000	0.29365	0.563000	0.77884	GCA	ANKRD27	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	ENSG00000105186		0.428	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0	51	0	C	NM_032139		33130348	-1	tier1	-	no_errors	ENST00000306065	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.365	A	A	33130348	C	A	33130348	3	1	42	1	0	0	0	0	1	0	0	0	655	739	26	3	2194	3	ANKRD27	19	33130348	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	15141512	33130348	25998635	180	10348											
ZNF829	374899	genome.wustl.edu	37	chr19	37382574	37382574	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatggtttttcatctgtatgGattctctgatgttgaataag	9	19	9	4	0	3	2	1	2	2	0	4	3	3	3	0	2	0	3	0	2	4	7			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:37382574G>T	ENST00000391711.3	-	6	1483	c.1119C>A	c.(1117-1119)atC>atA	p.I373I	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Silent_p.I454I|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCTGTATGGATTCTCTGAT	0.378																																																	0																																										SO:0001819	synonymous_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1119C>A	19.37:g.37382574G>T			Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I454	ENST00000391711.3	37	c.1362	CCDS42557.1	19																																																																																			ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.378	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	68	0	G	NM_001037232		37382574	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	T	T	37382574	G	T	37382574	2	4	42	1	0	0	0	0	0	0	0	1	18230	1164	41	3		3	ZNF829	19	37382574	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	4252226	37382574	21746409	181	10349											
SYMPK	8189	genome.wustl.edu	37	chr19	46326035	46326035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgggtgcccagcaggcGgttgaagacttccttcacca	8	9	12	12	1	1	2	1	1	0	1	2	2	2	2	3	3	3	3	3	3	1	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:46326035G>T	ENST00000245934.7	-	21	3014	c.2770C>A	c.(2770-2772)Cgc>Agc	p.R924S	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	924					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCCAGCAGGCGGTTGAAGACT	0.607																																																	0													95	84	87					19																	46326035		2203	4300	6503	SO:0001583	missense	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2770C>A	19.37:g.46326035G>T	ENSP00000245934:p.Arg924Ser		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.R924S	ENST00000245934.7	37	c.2770	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596840	0.66332	.	.	ENSG00000125755	ENST00000245934	T	0.66280	-0.2	4.37	4.37	0.52481	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72890	0.3517	L	0.60845	1.875	0.58432	D	0.999994	D;P	0.89917	1.0;0.88	D;P	0.97110	1.0;0.897	T	0.74965	-0.3484	10	0.87932	D	0	.	9.6845	0.40089	0.0:0.0:0.7928:0.2072	.	939;924	Q4LE61;Q92797	.;SYMPK_HUMAN	S	924	ENSP00000245934:R924S	ENSP00000245934:R924S	R	-	1	0	SYMPK	51017875	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.787000	0.55439	2.275000	0.75901	0.555000	0.69702	CGC	SYMPK	-	pfam_Symplekin_C,superfamily_ARM-type_fold	ENSG00000125755		0.607	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1		0	39	0	G	NM_004819		46326035	-1			no_errors	ENST00000245934	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	46326035	G	T	46326035	3	4	42	1	0	0	0	0	1	0	0	0	15486	1116	39	2	1082	2	SYMPK	19	46326035	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	8943461	46326035	12802948	182	10350											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52723017	52723017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattggcatccggcagctgtCccagtccctgctccctgcca	5	9	10	17	1	0	0	0	0	0	0	4	1	4	0	5	2	3	4	5	2	0	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:52723017C>T	ENST00000322088.6	+	10	1260	c.1202C>T	c.(1201-1203)tCc>tTc	p.S401F	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S222F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S346F|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	401	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CGGCAGCTGTCCCAGTCCCTG	0.592			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													82	73	76					19																	52723017		2203	4300	6503	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1202C>T	19.37:g.52723017C>T	ENSP00000324804:p.Ser401Phe		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S401F	ENST00000322088.6	37	c.1202	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807120	0.90623	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.20332	2.08;2.08	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000013	T	0.45135	0.1327	M	0.90252	3.1	0.80722	D	1	D;P	0.54601	0.967;0.945	P;B	0.51974	0.686;0.269	T	0.58244	-0.7670	10	0.87932	D	0	-30.3958	15.5205	0.75862	0.0:1.0:0.0:0.0	.	346;401	F5H3X9;P30153	.;2AAA_HUMAN	F	391;321;401;346	ENSP00000324804:S401F;ENSP00000415067:S346F	ENSP00000324804:S401F	S	+	2	0	PPP2R1A	57414829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.907000	0.75724	2.605000	0.88082	0.655000	0.94253	TCC	PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000105568		0.592	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	-	0	44	0	C	NM_014225		52723017	1	tier1	-	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	52723017	C	T	52723017	3	4	42	1	0	0	0	0	1	0	0	0	12424	855	30	3	1240	3	PPP2R1A	19	52723017	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	6396982	52723017	6405966	183	10351											
ZNF547	284306	genome.wustl.edu	37	chr19	57888904	57888904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaacttataagtgcaGcaaatgtgggatattgttta	16	12	10	3	0	0	2	0	0	0	2	0	3	0	3	0	1	3	3	0	1	7	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr19:57888904G>T	ENST00000282282.3	+	4	710	c.560G>T	c.(559-561)aGc>aTc	p.S187I	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATAAGTGCAGCAAATGTGGG	0.418																																																	0													77	75	76					19																	57888904		2203	4300	6503	SO:0001583	missense	0			AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"Zinc fingers, C2H2-type", "-"	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.560G>T	19.37:g.57888904G>T	ENSP00000282282:p.Ser187Ile		A8K5Z9|Q96NC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S187I	ENST00000282282.3	37	c.560	CCDS33131.1	19	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448673	0.43531	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.19105	2.17	1.87	-2.95	0.05564	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32255	0.0823	L	0.54323	1.7	0.09310	N	1	D;D;D	0.76494	0.994;0.999;0.995	P;D;P	0.69824	0.899;0.966;0.892	T	0.17684	-1.0361	9	0.49607	T	0.09	.	5.9155	0.19052	0.2535:0.5079:0.2386:0.0	.	187;187;187	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	I	187	ENSP00000282282:S187I	ENSP00000282282:S187I	S	+	2	0	ZNF547	62580716	0.000000	0.05858	0.000000	0.03702	0.572000	0.35998	-5.996000	0.00086	-0.537000	0.06290	0.491000	0.48974	AGC	ZNF547	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152433		0.418	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF547	HGNC	protein_coding	OTTHUMT00000465787.1		0	64	0	G	NM_173631		57888904	1			no_errors	ENST00000282282	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.000	T	T	57888904	G	T	57888904	3	4	42	1	0	0	0	0	1	0	0	0	18027	971	34	3	570	3	ZNF547	19	57888904	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	5165887	57888904	1240079	184	10352											
TRMT6	51605	genome.wustl.edu	37	chr20	5923415	5923415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctccagggtatagctGaataatggagccaaaacctg	12	9	9	11	0	0	1	0	1	0	0	3	2	3	2	5	2	3	2	5	2	6	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr20:5923415G>T	ENST00000203001.2	-	7	815	c.685C>A	c.(685-687)Cag>Aag	p.Q229K	TRMT6_ENST00000453074.2_Missense_Mutation_p.Q59K|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	229					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GGGTATAGCTGAATAATGGAG	0.443																																																	0													108	117	114					20																	5923415		2203	4300	6503	SO:0001583	missense	0			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.685C>A	20.37:g.5923415G>T	ENSP00000203001:p.Gln229Lys		B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase	p.Q229K	ENST00000203001.2	37	c.685	CCDS13093.1	20	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784383	0.90282	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.23552	1.9;1.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.997;0.992	D;P	0.68621	0.959;0.908	T	0.48614	-0.9020	10	0.06494	T	0.89	-15.6713	16.376	0.83392	0.0:0.0:0.8677:0.1323	.	59;229	B4DUV6;Q9UJA5	.;TRM6_HUMAN	K	229;59	ENSP00000203001:Q229K;ENSP00000392070:Q59K	ENSP00000203001:Q229K	Q	-	1	0	TRMT6	5871415	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.708000	0.74660	2.941000	0.99782	0.655000	0.94253	CAG	TRMT6	-	pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase	ENSG00000089195		0.443	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT6	HGNC	protein_coding	OTTHUMT00000077889.2		0	37	0	G			5923415	-1			no_errors	ENST00000203001	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	5923415	G	T	5923415	3	4	42	1	0	0	0	0	1	0	0	0	16616	1299	45	3	828	3	TRMT6	20	5923415	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		5923415	57102105	185	10353											
SULF2	55959	genome.wustl.edu	37	chr20	46365616	46365616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacatgggtgtggtcacGaaggcgttgatgaagtgcgc	9	8	16	8	3	1	2	1	2	0	0	1	3	1	2	0	3	2	2	0	3	2	1	rs368302336		TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr20:46365616G>T	ENST00000359930.4	-	3	1097	c.246C>A	c.(244-246)ttC>ttA	p.F82L	SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.F82L|SULF2_ENST00000467815.1_Missense_Mutation_p.F82L|SULF2_ENST00000484875.1_Missense_Mutation_p.F82L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	82					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGTGGTCACGAAGGCGTTGA	0.582																																																	0													243	186	205					20																	46365616		2203	4300	6503	SO:0001583	missense	0			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.246C>A	20.37:g.46365616G>T	ENSP00000353007:p.Phe82Leu		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.F82L	ENST00000359930.4	37	c.246	CCDS13408.1	20	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314713	0.81358	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815;ENST00000437955	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-3.33	5.44	4.29	0.51040	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.045113	0.85682	D	0.000000	D	0.96873	0.8979	M	0.74647	2.275	0.48288	D	0.999627	D;D;D	0.63046	0.985;0.992;0.982	D;P;P	0.63113	0.911;0.842;0.79	D	0.96138	0.9098	10	0.87932	D	0	-17.1625	6.3063	0.21141	0.2685:0.0:0.7315:0.0	.	82;82;82	G3XAE6;Q8IWU5-2;Q8IWU5	.;.;SULF2_HUMAN	L	82	ENSP00000353007:F82L;ENSP00000418290:F82L;ENSP00000354662:F82L;ENSP00000418442:F82L;ENSP00000410026:F82L	ENSP00000353007:F82L	F	-	3	2	SULF2	45799023	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	0.679000	0.25291	2.559000	0.86315	0.561000	0.74099	TTC	SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000196562		0.582	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1		0	41	0	G	NM_018837		46365616	-1			no_errors	ENST00000359930	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	46365616	G	T	46365616	3	4	42	1	0	0	0	0	1	0	0	0	15418	1049	37	2	2442	2	SULF2	20	46365616	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	40442201	46365616	16659904	186	10354											
MOCS3	8813	genome.wustl.edu	37	chr20	49576475	49576475	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggaggtggacatttgtCgtttgcctcatgccctacac	7	12	12	10	1	1	0	1	0	0	0	2	2	1	2	2	4	3	1	2	4	1	3			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr20:49576475C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000371582.4_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.R366C|DPM1_ENST00000371583.5_5'Flank|DPM1_ENST00000466152.1_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGACATTTGTCGTTTGCCTCA	0.527																																																	0													210	209	209					20																	49576475		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576475C>T	Exception_encountered		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.R366C	ENST00000371588.5	37	c.1096	CCDS13434.1	20	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781913	0.49891	.	.	ENSG00000124217	ENST00000244051	T	0.27402	1.67	5.14	3.18	0.36537	Rhodanese-like (4);Molybdenum cofactor biosynthesis, MoeB (1);	0.369961	0.31648	N	0.007294	T	0.30070	0.0753	M	0.73372	2.23	0.58432	D	0.999999	B	0.27351	0.176	B	0.23716	0.048	T	0.10268	-1.0637	9	.	.	.	-2.7197	10.3133	0.43721	0.0:0.8446:0.0:0.1554	.	366	O95396	MOCS3_HUMAN	C	366	ENSP00000244051:R366C	.	R	+	1	0	MOCS3	49009882	0.049000	0.20398	0.987000	0.45799	0.987000	0.75469	1.009000	0.29886	1.407000	0.46875	-0.140000	0.14226	CGT	MOCS3	-	pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000124217		0.527	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCS3	HGNC	protein_coding	OTTHUMT00000079716.1		0	36	0	C	NM_003859		49576475	1			no_errors	ENST00000244051	ensembl	human	known	74_37	missense	8.11	32	3	SNP	1.000	T	T	49576475	C	T	49576475	1	4	42	0	1	0	0	0	0	0	0	0	9730	884	31	1		1	MOCS3	20	49576475	5'Flank	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	3210859	49576475	13449045	187	10355											
TUBB1	81027	genome.wustl.edu	37	chr20	57599479	57599479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagcaactgctctccGtgcagaccaggaacagcagc	11	5	11	14	1	1	1	0	0	1	1	2	3	1	3	3	2	7	4	3	2	2	0			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr20:57599479G>A	ENST00000217133.1	+	4	1266	c.997G>A	c.(997-999)Gtg>Atg	p.V333M		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	333					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACTGCTCTCCGTGCAGACCAG	0.627																																																	0													62	56	58					20																	57599479		2203	4300	6503	SO:0001583	missense	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.997G>A	20.37:g.57599479G>A	ENSP00000217133:p.Val333Met			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.V333M	ENST00000217133.1	37	c.997	CCDS13475.1	20	.	.	.	.	.	.	.	.	.	.	G	16.38	3.105961	0.56291	.	.	ENSG00000101162	ENST00000217133	D	0.83075	-1.68	5.41	3.43	0.39272	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.231105	0.46145	D	0.000309	T	0.76162	0.3949	L	0.41710	1.295	0.37057	D	0.897861	B	0.23128	0.08	B	0.26693	0.072	T	0.77534	-0.2552	10	0.87932	D	0	.	10.5732	0.45212	0.2187:0.0:0.7813:0.0	.	333	Q9H4B7	TBB1_HUMAN	M	333	ENSP00000217133:V333M	ENSP00000217133:V333M	V	+	1	0	TUBB1	57032874	0.966000	0.33281	0.835000	0.33067	0.941000	0.58515	1.478000	0.35442	1.286000	0.44565	0.561000	0.74099	GTG	TUBB1	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	ENSG00000101162		0.627	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1	-	0	76	0	G	NM_030773		57599479	1	tier1	-	no_errors	ENST00000217133	ensembl	human	known	74_37	missense	8.97	71	7	SNP	0.938	A	A	57599479	G	A	57599479	3	1	42	1	0	0	0	0	1	0	0	0	16802	1145	40	1	1011	1	TUBB1	20	57599479	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	8023004	57599479	5426041	188	10356											
NTSR1	4923	genome.wustl.edu	37	chr20	61340826	61340826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacggcgttcacgctggcGcggaagaagtcgctgcagag	8	6	17	10	6	1	3	1	1	0	2	2	4	1	4	0	3	1	4	0	3	2	1			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr20:61340826G>A	ENST00000370501.3	+	1	638	c.267G>A	c.(265-267)gcG>gcA	p.A89A		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	89					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCACGCTGGCGCGGAAGAAGT	0.657																																					GBM(37;400 780 6403 19663 35669)												0													76	58	64					20																	61340826		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.267G>A	20.37:g.61340826G>A			Q9H4H1|Q9H4T5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt	p.A89	ENST00000370501.3	37	c.267	CCDS13502.1	20																																																																																			NTSR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn	ENSG00000101188		0.657	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	HGNC	protein_coding	OTTHUMT00000080061.1	-	0	19	0	G			61340826	1	tier1	-	no_errors	ENST00000370501	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.987	A	A	61340826	G	A	61340826	2	1	42	1	0	0	0	0	0	0	0	1	10749	1074	38	1		1	NTSR1	20	61340826	Silent	SNP	G	TCGA-JY-A939-01A-12D-A37C-09	3741347	61340826	1684694	189	10357											
FAM165B	54065	genome.wustl.edu	37	chr21	35757784	35757784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcttgaaggttcttgaGcacgtgcccctgctgctgta	5	15	10	11	1	3	2	0	2	3	0	3	2	3	2	2	1	4	5	2	1	2	6			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr21:35757784G>T	ENST00000399295.2	+	3	391	c.21G>T	c.(19-21)gaG>gaT	p.E7D	SMIM11_ENST00000399292.3_Missense_Mutation_p.E7D|SMIM11_ENST00000481710.1_3'UTR|SMIM11_ENST00000399299.1_Intron			P58511	SIM11_HUMAN	small integral membrane protein 11	7						integral component of membrane (GO:0016021)											AGGTTCTTGAGCACGTGCCCC	0.398																																																	0													106	88	94					21																	35757784		2203	4300	6503	SO:0001583	missense	0			BC015596	CCDS33550.1	21q22.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000205670	ENSG00000205670			1293	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 51", "family with sequence similarity 165, member B"	C21orf51, FAM165B			Standard	NM_058182		Approved		uc002ytu.4	P58511	OTTHUMG00000086193	ENST00000399295.2:c.21G>T	21.37:g.35757784G>T	ENSP00000382234:p.Glu7Asp			Missense_Mutation	SNP	NULL	p.E7D	ENST00000399295.2	37	c.21	CCDS33550.1	21	.	.	.	.	.	.	.	.	.	.	G	9.152	1.016530	0.19355	.	.	ENSG00000205670	ENST00000399292;ENST00000399295	T;T	0.42513	0.97;0.97	5.49	-11.0	0.00169	.	.	.	.	.	T	0.18551	0.0445	.	.	.	0.18873	N	0.999989	B	0.06786	0.001	B	0.12156	0.007	T	0.07829	-1.0752	8	0.21540	T	0.41	.	5.1357	0.14934	0.2038:0.0766:0.4851:0.2346	.	7	P58511	F165B_HUMAN	D	7	ENSP00000382231:E7D;ENSP00000382234:E7D	ENSP00000382231:E7D	E	+	3	2	FAM165B	34679654	0.072000	0.21174	0.006000	0.13384	0.551000	0.35334	-1.212000	0.02994	-3.652000	0.00126	-0.440000	0.05779	GAG	SMIM11	-	NULL	ENSG00000205670		0.398	SMIM11-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM11	HGNC	protein_coding	OTTHUMT00000194078.1		0	42	0	G	NM_058182		35757784	1			no_errors	ENST00000399292	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.037	T	T	35757784	G	T	35757784	3	4	42	1	0	0	0	0	1	0	0	0	5499	962	34	3	27	3	FAM165B	21	35757784	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		35757784	12372111	190	10358											
DSCAM	1826	genome.wustl.edu	37	chr21	42080670	42080670	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcattgacaaagtagAggctggagtgtaggtcttca	12	10	14	5	0	2	3	1	1	1	2	2	5	2	4	0	3	1	4	0	3	3	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr21:42080670A>G	ENST00000400454.1	-	2	548	c.71T>C	c.(70-72)cTc>cCc	p.L24P		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	24					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GACAAAGTAGAGGCTGGAGTG	0.517																																					Melanoma(134;970 1778 1785 21664 32388)												0													96	99	98					21																	42080670		1983	4146	6129	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.71T>C	21.37:g.42080670A>G	ENSP00000383303:p.Leu24Pro		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L24P	ENST00000400454.1	37	c.71	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592149	0.66219	.	.	ENSG00000171587	ENST00000400454	T	0.60672	0.17	4.95	4.95	0.65309	.	0.085098	0.48286	D	0.000193	T	0.71787	0.3381	M	0.72894	2.215	0.58432	D	0.999999	D	0.65815	0.995	D	0.75484	0.986	T	0.68949	-0.5274	10	0.19590	T	0.45	.	13.4949	0.61419	1.0:0.0:0.0:0.0	.	24	O60469	DSCAM_HUMAN	P	24	ENSP00000383303:L24P	ENSP00000383303:L24P	L	-	2	0	DSCAM	41002540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.798000	0.91888	1.997000	0.58415	0.477000	0.44152	CTC	DSCAM	-	NULL	ENSG00000171587		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	39	0	A	NM_001389		42080670	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	G	G	42080670	A	G	42080670	3	3	42	1	0	0	0	0	1	0	0	0	4782	304	11	4	6095	4	DSCAM	21	42080670	Missense_Mutation	SNP	A	TCGA-JY-A939-01A-12D-A37C-09	6322886	42080670	6049225	191	10359											
ZMAT5	55954	genome.wustl.edu	37	chr22	30144477	30144477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgcttcttgcggttGtggaggttgtcctggaagga	5	14	16	6	1	2	0	1	0	1	0	3	3	3	3	1	6	2	3	1	6	1	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr22:30144477G>T	ENST00000344318.3	-	2	173	c.57C>A	c.(55-57)caC>caA	p.H19Q	ZMAT5_ENST00000397781.3_Missense_Mutation_p.H19Q	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	19					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			TCTTGCGGTTGTGGAGGTTGT	0.607																																																	0													147	121	130					22																	30144477		2203	4300	6503	SO:0001583	missense	0				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"Zinc fingers, matrin-type"	28046	protein-coding gene	gene with protein product	"U11/U12 snRNP 20K"					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.57C>A	22.37:g.30144477G>T	ENSP00000344241:p.His19Gln		A8K9F6	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_U1-C,smart_Znf_CCCH	p.H19Q	ENST00000344318.3	37	c.57	CCDS13868.1	22	.	.	.	.	.	.	.	.	.	.	G	17.84	3.489011	0.64074	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.36	4.35	0.52113	Zinc finger, U1-C type (1);	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	L	0.35723	1.085	0.58432	D	0.999995	D	0.76494	0.999	D	0.72338	0.977	T	0.57648	-0.7775	9	0.21540	T	0.41	-37.1746	11.4869	0.50358	0.0834:0.0:0.9166:0.0	.	19	Q9UDW3	ZMAT5_HUMAN	Q	19	.	ENSP00000344241:H19Q	H	-	3	2	ZMAT5	28474477	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.750000	0.55157	1.270000	0.44297	-0.350000	0.07774	CAC	ZMAT5	-	pfam_Znf_U1-C	ENSG00000100319		0.607	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT5	HGNC	protein_coding	OTTHUMT00000322114.1	-	0	53	0	G	NM_019103		30144477	-1	tier1	-	no_errors	ENST00000344318	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	30144477	G	T	30144477	3	4	42	1	0	0	0	0	1	0	0	0	17743	1368	48	3	475	3	ZMAT5	22	30144477	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		30144477	21160089	192	10360											
KLHDC7B	113730	genome.wustl.edu	37	chr22	50987858	50987858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacagcatggagtgctaCgacccgcgaacagacgcctg	10	6	12	13	4	0	1	0	0	0	1	0	4	0	2	2	1	5	3	2	1	3	2			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chr22:50987858C>T	ENST00000395676.2	+	1	1397	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	421										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGAGTGCTACGACCCGCGAA	0.677																																																	0													79	78	79					22																	50987858		2203	4299	6502	SO:0001819	synonymous_variant	0			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1263C>T	22.37:g.50987858C>T				Silent	SNP	pfam_Kelch_1,smart_Kelch_1	p.Y421	ENST00000395676.2	37	c.1263	CCDS14097.2	22																																																																																			KLHDC7B	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000130487		0.677	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2		0	50	0	C	NM_138433		50987858	1			no_errors	ENST00000395676	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.994	T	T	50987858	C	T	50987858	2	4	42	1	0	0	0	0	0	0	0	1	8388	547	19	1		1	KLHDC7B	22	50987858	Silent	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	20843381	50987858	316708	193	10361											
HCCS	3052	genome.wustl.edu	37	chrX	11139818	11139818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattgattattatgatggtgGtgaagtcaacaaggactacc	13	12	11	5	0	1	3	1	3	0	0	1	5	1	4	1	3	2	0	1	3	6	4			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chrX:11139818G>A	ENST00000321143.4	+	7	897	c.695G>A	c.(694-696)gGt>gAt	p.G232D	ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380763.3_Missense_Mutation_p.G232D|HCCS_ENST00000380762.4_Missense_Mutation_p.G232D	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	232					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						TATGATGGTGGTGAAGTCAAC	0.448																																					Ovarian(86;1338 1347 1462 10340 37882)												0													192	156	168					X																	11139818		2203	4300	6503	SO:0001583	missense	0				CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.695G>A	X.37:g.11139818G>A	ENSP00000326579:p.Gly232Asp		B3KUS1|Q502X8	Missense_Mutation	SNP	pfam_Cyt_C/C1_haem_lyase	p.G232D	ENST00000321143.4	37	c.695	CCDS14139.1	X	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931523	0.52866	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.82081	-1.57;-1.57;-1.57	6.05	6.05	0.98169	.	0.150930	0.64402	D	0.000017	T	0.78470	0.4288	L	0.31664	0.95	0.80722	D	1	B	0.31730	0.337	B	0.41036	0.346	T	0.72537	-0.4263	10	0.08599	T	0.76	-25.0457	16.7492	0.85481	0.0:0.0:1.0:0.0	.	232	P53701	CCHL_HUMAN	D	232	ENSP00000326579:G232D;ENSP00000370140:G232D;ENSP00000370139:G232D	ENSP00000326579:G232D	G	+	2	0	HCCS	11049739	1.000000	0.71417	0.017000	0.16124	0.938000	0.57974	9.239000	0.95389	2.565000	0.86533	0.594000	0.82650	GGT	HCCS	-	pfam_Cyt_C/C1_haem_lyase	ENSG00000004961		0.448	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCCS	HGNC	protein_coding	OTTHUMT00000055742.1	-	0	32	0	G			11139818	1	tier1	-	no_errors	ENST00000321143	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.870	A	A	11139818	G	A	11139818	3	1	42	1	0	0	0	0	1	0	0	0	7017	1261	44	3	717	3	HCCS	23	11139818	Missense_Mutation	SNP	G	TCGA-JY-A939-01A-12D-A37C-09		11139818	144130742	194	10362											
USP9X	8239	genome.wustl.edu	37	chrX	41084051	41084051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttatcacaacctataatgCcaattcagcagaatgtggca	15	11	6	9	0	2	1	2	0	0	1	2	1	2	1	2	1	3	2	2	1	6	5			TCGA-JY-A939-01A-12D-A37C-09	TCGA-JY-A939-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e215fdc7-0015-459e-915c-b51c6b2106e4	7efc7e5e-31ae-45cd-a03a-936dd92b52ef	g.chrX:41084051C>T	ENST00000324545.8	+	40	7441	c.6808C>T	c.(6808-6810)Cca>Tca	p.P2270S	USP9X_ENST00000378308.2_Missense_Mutation_p.P2270S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2270					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACCTATAATGCCAATTCAGCA	0.348																																					Ovarian(172;1807 2695 35459 49286)												0													106	106	106					X																	41084051		2203	4299	6502	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6808C>T	X.37:g.41084051C>T	ENSP00000316357:p.Pro2270Ser		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.P2270S	ENST00000324545.8	37	c.6808	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761096	0.49468	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03358	3.97;3.96	5.9	5.02	0.67125	.	0.159668	0.56097	D	0.000029	T	0.08223	0.0205	M	0.77103	2.36	0.52099	D	0.999947	B;B	0.21225	0.025;0.053	B;B	0.25614	0.062;0.029	T	0.03175	-1.1064	10	0.46703	T	0.11	.	13.8804	0.63678	0.0:0.7357:0.2643:0.0	.	2270;2270	Q93008-1;Q93008	.;USP9X_HUMAN	S	2270	ENSP00000367558:P2270S;ENSP00000316357:P2270S	ENSP00000316357:P2270S	P	+	1	0	USP9X	40968995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.889000	0.56212	2.495000	0.84180	0.544000	0.68410	CCA	USP9X	-	NULL	ENSG00000124486		0.348	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0	35	0	C	NM_004652		41084051	1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	41084051	C	T	41084051	3	4	42	1	0	0	0	0	1	0	0	0	17139	739	26	3	6962	3	USP9X	23	41084051	Missense_Mutation	SNP	C	TCGA-JY-A939-01A-12D-A37C-09	29944233	41084051	114186509	195	10363											
AGRN	375790	genome.wustl.edu	37	chr1	981861	981861	+	Frame_Shift_Del	DEL	C	C	-																															cctgagccaggcactgccggCcccccccggcgccctccccc																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:981861delC	ENST00000379370.2	+	18	3046	c.2996delC	c.(2995-2997)gccfs	p.A999fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	999	Ser/Thr-rich.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCACTGCCGGCCCCCCCCGGC	0.701																																																	0										75,129,3992		3,0,69,2,125,1899	13	16	15			-4.9	0	1		15	87,176,7897		1,0,85,1,174,3819	no	codingComplex	AGRN	NM_198576.3		4,0,154,3,299,5718	A1A1,A1A2,A1R,A2A2,A2R,RR		3.223,4.8618,3.7795			981861	162,305,11889	2192	4284	6476	SO:0001589	frameshift_variant	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2996delC	1.37:g.981861delC	ENSP00000368678:p.Ala999fs		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.G1002fs	ENST00000379370.2	37	c.2996	CCDS30551.1	1																																																																																			AGRN	-	NULL	ENSG00000188157		0.701	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2		0	68	0	C	NM_198576		981861	1	tier1		no_errors	ENST00000379370	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.000	-	-	981861	C	-	981861	7	5	43	1	0	1	0	1	0	0	0	0	397	739	26	0	3066	0	AGRN	1	981861	Frame_Shift_Del	DEL	C	TCGA-JY-A93C-01A-11D-A387-09		981861	248268760	1	10364											
FAM131C	348487	genome.wustl.edu	37	chr1	16385063	16385064	+	Frame_Shift_Ins	INS	-	-	G																															cgatgctgcagctctgggctINSggggggctgcgggatgccag																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:16385063_16385064insG	ENST00000375662.4	-	7	894_895	c.711_712insC	c.(709-714)cccagcfs	p.S238fs	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	238	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCTGGGCTGGGGGGCTGCG	0.733																																																	0																																										SO:0001589	frameshift_variant	0				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.712dupC	1.37:g.16385069_16385069dupG	ENSP00000364814:p.Ser238fs		Q5T5Q5|Q8N3X3|Q8N9P9	Frame_Shift_Ins	INS	superfamily_Chromodomain-like	p.S237fs	ENST00000375662.4	37	c.712_711	CCDS41270.1	1																																																																																			FAM131C	-	NULL	ENSG00000185519		0.733	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1		0	66	0	-	NM_182623		16385064	-1	tier1		no_errors	ENST00000375662	ensembl	human	known	74_37	frame_shift_ins	22.86	27	8	INS	0.458:0.335	G	G	16385064	-	G	16385063	7	5	43	1	0	1	1	0	0	0	0	0	5460	1580	55	0	134	0	FAM131C	1	16385063	Frame_Shift_Ins	INS	-	TCGA-JY-A93C-01A-11D-A387-09	15403202	16385063	232865558	2	10365											
ARHGEF19	128272	genome.wustl.edu	37	chr1	16534232	16534232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcgacacccggtccccGctcatctctacacttcgagc	6	7	9	19	5	2	0	1	0	1	0	5	2	3	0	4	2	2	1	4	2	1	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:16534232G>A	ENST00000270747.3	-	4	871	c.735C>T	c.(733-735)agC>agT	p.S245S	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	245					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCCGGTCCCCGCTCATCTCTA	0.667																																																	0													50	53	52					1																	16534232		2203	4299	6502	SO:0001819	synonymous_variant	0			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.735C>T	1.37:g.16534232G>A			A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S245	ENST00000270747.3	37	c.735	CCDS170.1	1																																																																																			ARHGEF19	-	NULL	ENSG00000142632		0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	-	0	74	0	G	NM_153213		16534232	-1	tier1	-	no_errors	ENST00000270747	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.004	A	A	16534232	G	A	16534232	2	1	43	1	0	0	0	0	0	0	0	1	902	1078	38	1		1	ARHGEF19	1	16534232	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	149169	16534232	232716389	3	10366											
ARHGEF10L	55160	genome.wustl.edu	37	chr1	17975067	17975067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggaggagaaccagccagGctggctatgcccggatgagg	10	4	18	9	1	0	2	0	1	0	1	0	5	0	4	3	7	3	2	3	7	2	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:17975067G>A	ENST00000361221.3	+	22	2450	c.2291G>A	c.(2290-2292)gGc>gAc	p.G764D	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.G725D|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.G467D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.G759D|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.G725D|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.G537D	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	764						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AACCAGCCAGGCTGGCTATGC	0.627																																																	0													66	65	65					1																	17975067		2203	4300	6503	SO:0001583	missense	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2291G>A	1.37:g.17975067G>A	ENSP00000355060:p.Gly764Asp		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.G764D	ENST00000361221.3	37	c.2291	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438873	0.83885	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	M	0.82716	2.605	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;1.0;1.0;0.996;0.998;1.0;1.0	T	0.50734	-0.8793	10	0.72032	D	0.01	-25.1601	14.8497	0.70286	0.0:0.0:1.0:0.0	.	537;759;467;525;720;725;764	Q5VXI4;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	D	764;725;759;725;537;537;467	ENSP00000355060:G764D;ENSP00000399401:G725D;ENSP00000394621:G759D;ENSP00000364564:G725D;ENSP00000364557:G537D;ENSP00000167825:G467D	ENSP00000167825:G467D	G	+	2	0	ARHGEF10L	17847654	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.891000	0.87319	2.340000	0.79590	0.591000	0.81541	GGC	ARHGEF10L	-	NULL	ENSG00000074964		0.627	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	-	0	54	0	G	NM_018125		17975067	1	tier1	-	no_errors	ENST00000361221	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	17975067	G	A	17975067	3	1	43	1	0	0	0	0	1	0	0	0	895	1203	42	3	2373	3	ARHGEF10L	1	17975067	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1440835	17975067	231275554	4	10367											
PAX7	5081	genome.wustl.edu	37	chr1	19071366	19071366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccagcgtcgcatgaagctCggggagcactctgctgtgct	7	8	13	13	3	1	1	0	1	1	0	3	2	1	2	1	2	5	5	1	2	1	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:19071366C>T	ENST00000420770.2	+	9	1544	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L		NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	0					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GCATGAAGCTCGGGGAGCACT	0.562			T	FOXO1A	alveolar rhabdomyosarcoma																																			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													24	25	25					1																	19071366		1559	3538	5097	SO:0001819	synonymous_variant	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000420770.2:c.1461C>T	1.37:g.19071366C>T			E9PFV9|Q0VA99|Q2PJS5	Silent	SNP	pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.L487	ENST00000420770.2	37	c.1461	CCDS44074.1	1																																																																																			PAX7	-	NULL	ENSG00000009709		0.562	PAX7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000372482.1	-	0	79	0	C	NM_002584		19071366	1	tier1	-	no_errors	ENST00000420770	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.019	T	T	19071366	C	T	19071366	2	4	43	1	0	0	0	0	0	0	0	1	11523	871	31	1		1	PAX7	1	19071366	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	1096299	19071366	230179255	5	10368											
SH2D5	400745	genome.wustl.edu	37	chr1	21049287	21049287	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtggttccggaagacctGgtggggcaccacgccgcact	7	6	15	13	3	0	1	0	0	0	1	1	2	1	2	4	6	0	3	4	6	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:21049287G>A	ENST00000444387.2	-	9	1427	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000375031.1_Nonsense_Mutation_p.Q260*	NM_001103161.1	NP_001096631.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	344	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGGAAGACCTGGTGGGGCACC	0.692																																																	0													12	16	14					1																	21049287		2059	4177	6236	SO:0001587	stop_gained	0			AK124869, AK123236	CCDS41280.1, CCDS44080.1	1p36.12	2008-02-05			ENSG00000189410	ENSG00000189410			28819	protein-coding gene	gene with protein product							Standard	NM_001103161		Approved		uc009vpy.1	Q6ZV89	OTTHUMG00000002620	ENST00000444387.2:c.1030C>T	1.37:g.21049287G>A	ENSP00000406026:p.Gln344*		B7Z3W3|Q5SSJ2	Nonsense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH2	p.Q344*	ENST00000444387.2	37	c.1030	CCDS44080.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.172317	0.99089	.	.	ENSG00000189410	ENST00000375031;ENST00000444387	.	.	.	4.85	4.85	0.62838	.	0.573504	0.17351	N	0.177403	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	10.5243	0.44938	0.0:0.0:0.8068:0.1932	.	.	.	.	X	260;344	.	ENSP00000364171:Q260X	Q	-	1	0	SH2D5	20921874	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.476000	0.35420	2.523000	0.85059	0.563000	0.77884	CAG	SH2D5	-	pfscan_SH2	ENSG00000189410		0.692	SH2D5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D5	HGNC	protein_coding	OTTHUMT00000007455.2	-	0	129	0	G	XM_375698		21049287	-1	tier1	-	no_errors	ENST00000444387	ensembl	human	known	74_37	nonsense	36.99	46	27	SNP	1.000	A	A	21049287	G	A	21049287	4	1	43	1	0	0	0	0	0	1	0	0	14282	1357	47	3	249	3	SH2D5	1	21049287	Nonsense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1977921	21049287	228201334	6	10369											
SLC30A2	7780	genome.wustl.edu	37	chr1	26365728	26365728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctggatggtcacggtgtGgaagtggaacttcccttgga	8	11	15	7	1	2	0	1	0	1	0	3	5	3	4	1	6	1	0	1	6	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:26365728G>T	ENST00000374278.3	-	7	1111	c.895C>A	c.(895-897)Cac>Aac	p.H299N	SLC30A2_ENST00000374276.3_Missense_Mutation_p.H348N	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	299					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACGGTGTGGAAGTGGAAC	0.622																																																	0													89	77	81					1																	26365728		2203	4300	6503	SO:0001583	missense	0			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.895C>A	1.37:g.26365728G>T	ENSP00000363396:p.His299Asn		Q71RC8	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.H348N	ENST00000374278.3	37	c.1042	CCDS272.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048137	0.55110	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.63744	-0.06;-0.06	5.63	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.73697	0.3620	M	0.78637	2.42	0.42876	D	0.994157	P;P	0.48911	0.462;0.917	B;P	0.54544	0.356;0.755	T	0.76342	-0.2994	10	0.48119	T	0.1	-12.6021	13.5493	0.61723	0.0762:0.0:0.9237:0.0	.	299;348	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	N	299;348	ENSP00000363396:H299N;ENSP00000363394:H348N	ENSP00000363394:H348N	H	-	1	0	SLC30A2	26238315	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	2.723000	0.47277	1.391000	0.46566	0.462000	0.41574	CAC	SLC30A2	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000158014		0.622	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	SLC30A2	HGNC	protein_coding	OTTHUMT00000019742.1		0	50	0	G	NM_032513		26365728	-1			no_errors	ENST00000374276	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	26365728	G	T	26365728	3	4	43	1	0	0	0	0	1	0	0	0	14600	1348	47	3	80	3	SLC30A2	1	26365728	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	5316441	26365728	222884893	7	10370											
AHDC1	27245	genome.wustl.edu	37	chr1	27877292	27877292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaactctgggactgagacCgggcctgggcctggcagggc	6	7	16	12	1	2	1	1	1	1	1	2	3	2	2	3	5	1	1	3	5	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:27877292C>T	ENST00000247087.5	-	5	1931	c.1335G>A	c.(1333-1335)ccG>ccA	p.P445P	AHDC1_ENST00000374011.2_Silent_p.P445P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	445	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGACTGAGACCGGGCCTGGGC	0.692																																																	0													6	7	7					1																	27877292		2148	4205	6353	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1335G>A	1.37:g.27877292C>T			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.P445	ENST00000247087.5	37	c.1335	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.692	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-	0	12	0	C			27877292	-1	tier1	-	no_errors	ENST00000247087	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.819	T	T	27877292	C	T	27877292	2	4	43	1	0	0	0	0	0	0	0	1	412	639	23	1		1	AHDC1	1	27877292	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	1511564	27877292	221373329	8	10371											
BMP8B	656	genome.wustl.edu	37	chr1	40230448	40230448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgggagcgtggggcccGttgacccagcaggccggcca	5	6	17	13	3	0	1	0	1	0	0	0	2	0	2	4	5	2	3	4	5	0	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:40230448G>A	ENST00000372827.3	-	4	1090	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	BMP8B_ENST00000397360.2_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	239					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTGGGGCCCGTTGACCCAGC	0.657																																																	0																																										SO:0001583	missense	0			BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"Bone morphogenetic proteins", "Endogenous ligands"	1075	protein-coding gene	gene with protein product	"osteogenic protein 2"	602284	"bone morphogenetic protein 8 (osteogenic protein 2)"	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.715C>T	1.37:g.40230448G>A	ENSP00000361915:p.Arg239Trp		E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.R239W	ENST00000372827.3	37	c.715	CCDS444.1	1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085980	0.36758	.	.	ENSG00000116985	ENST00000372827	T	0.69306	-0.39	4.37	3.44	0.39384	Transforming growth factor-beta, N-terminal (1);	0.515644	0.18927	U	0.127313	T	0.76637	0.4015	M	0.68593	2.085	0.32377	N	0.555066	D	0.76494	0.999	P	0.60345	0.873	T	0.82192	-0.0579	10	0.72032	D	0.01	.	13.5303	0.61617	0.0:0.0:0.8433:0.1567	.	239	P34820	BMP8B_HUMAN	W	239	ENSP00000361915:R239W	ENSP00000361915:R239W	R	-	1	2	BMP8B	40003035	0.013000	0.17824	0.001000	0.08648	0.137000	0.21094	1.883000	0.39658	1.030000	0.39839	0.558000	0.71614	CGG	BMP8B	-	pfam_TGF-b_N	ENSG00000116985		0.657	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP8B	HGNC	protein_coding	OTTHUMT00000025641.1	-	0	199	0	G	NM_001720		40230448	-1	tier1	-	no_errors	ENST00000372827	ensembl	human	known	74_37	missense	10.87	82	10	SNP	0.008	A	A	40230448	G	A	40230448	3	1	43	1	0	0	0	0	1	0	0	0	1469	1144	40	1	509	1	BMP8B	1	40230448	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	12353156	40230448	209020173	9	10372											
HIVEP3	59269	genome.wustl.edu	37	chr1	42048742	42048742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggtaaacacgtgactgCtgtggctcagggcttcggag	8	8	17	8	2	1	1	1	1	0	0	2	3	1	3	0	5	2	4	0	5	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:42048742C>T	ENST00000372583.1	-	4	2612	c.1727G>A	c.(1726-1728)aGc>aAc	p.S576N	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S576N|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S576N|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S576N	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	576	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACGTGACTGCTGTGGCTCAG	0.597																																																	0													50	52	51					1																	42048742		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1727G>A	1.37:g.42048742C>T	ENSP00000361664:p.Ser576Asn		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S576N	ENST00000372583.1	37	c.1727	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151486	0.38021	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06768	3.27;3.26;3.26;3.27	4.64	3.71	0.42584	.	0.094546	0.47093	N	0.000254	T	0.07098	0.0180	L	0.28014	0.82	0.30409	N	0.779303	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.06092	-1.0846	10	0.42905	T	0.14	-6.9895	12.8889	0.58058	0.0:0.919:0.0:0.081	.	576;576	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	N	576	ENSP00000361665:S576N;ENSP00000361664:S576N;ENSP00000247584:S576N;ENSP00000410828:S576N	ENSP00000247584:S576N	S	-	2	0	HIVEP3	41821329	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.872000	0.56085	1.144000	0.42321	0.561000	0.74099	AGC	HIVEP3	-	NULL	ENSG00000127124		0.597	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1		0	69	0	C	NM_024503		42048742	-1			no_errors	ENST00000247584	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	42048742	C	T	42048742	3	4	43	1	0	0	0	0	1	0	0	0	7215	797	28	3	5517	3	HIVEP3	1	42048742	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	1818294	42048742	207201879	10	10373											
AKR1A1	10327	genome.wustl.edu	37	chr1	46034257	46034257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgggctcctctgatcGtgcatggcgtgatcctgatg	4	13	12	12	2	1	3	0	3	1	0	4	3	3	3	3	2	1	2	3	2	0	1	rs572719037		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:46034257G>A	ENST00000372070.3	+	7	1400	c.653G>A	c.(652-654)cGt>cAt	p.R218H	AKR1A1_ENST00000473038.1_Intron|AKR1A1_ENST00000351829.4_Missense_Mutation_p.R218H	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	218					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	TCCTCTGATCGTGCATGGCGT	0.542																																																	0													108	87	94					1																	46034257		2203	4300	6503	SO:0001583	missense	0			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.653G>A	1.37:g.46034257G>A	ENSP00000361140:p.Arg218His		A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.R218H	ENST00000372070.3	37	c.653	CCDS523.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887525	0.91814	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.30182	1.54;1.54	6.02	4.17	0.49024	NADP-dependent oxidoreductase domain (3);	0.046204	0.85682	N	0.000000	T	0.55417	0.1919	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59467	-0.7449	10	0.72032	D	0.01	.	12.7004	0.57029	0.1321:0.0:0.8679:0.0	.	218	P14550	AK1A1_HUMAN	H	218	ENSP00000361140:R218H;ENSP00000312606:R218H	ENSP00000312606:R218H	R	+	2	0	AKR1A1	45806844	1.000000	0.71417	0.971000	0.41717	0.983000	0.72400	9.773000	0.98989	0.909000	0.36697	0.650000	0.86243	CGT	AKR1A1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000117448		0.542	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1A1	HGNC	protein_coding	OTTHUMT00000020851.1		0	69	0	G	NM_006066		46034257	1			no_errors	ENST00000351829	ensembl	human	known	74_37	missense	5.13	36	2	SNP	0.999	A	A	46034257	G	A	46034257	3	1	43	1	0	0	0	0	1	0	0	0	465	1145	40	1	671	1	AKR1A1	1	46034257	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3985515	46034257	203216364	11	10374											
PPAP2B	8613	genome.wustl.edu	37	chr1	56990007	56990007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagttctgaatgtagccttCagagcagttgatctggctga	9	13	12	7	0	3	4	1	3	2	1	3	4	3	4	1	1	2	6	1	1	3	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:56990007C>T	ENST00000371250.3	-	3	1068	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	173					Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.E173K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGTAGCCTTCAGAGCAGTTG	0.537																																																	1	Substitution - Missense(1)	urinary_tract(1)											145	142	143					1																	56990007		2203	4300	6503	SO:0001583	missense	0			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.517G>A	1.37:g.56990007C>T	ENSP00000360296:p.Glu173Lys		B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.E173K	ENST00000371250.3	37	c.517	CCDS604.1	1	.	.	.	.	.	.	.	.	.	.	C	6.639	0.486380	0.12641	.	.	ENSG00000162407	ENST00000371250	T	0.74737	-0.87	5.7	2.82	0.32997	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.657749	0.15276	N	0.270980	T	0.47801	0.1465	N	0.16567	0.415	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.30060	-0.9991	10	0.06757	T	0.87	.	1.1	0.01682	0.1572:0.4144:0.1911:0.2374	.	173	O14495	LPP3_HUMAN	K	173	ENSP00000360296:E173K	ENSP00000360296:E173K	E	-	1	0	PPAP2B	56762595	0.037000	0.19845	0.975000	0.42487	0.973000	0.67179	0.461000	0.21940	0.748000	0.32831	0.655000	0.94253	GAA	PPAP2B	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000162407		0.537	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2		0	60	0	C	NM_003713		56990007	-1			no_errors	ENST00000371250	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.069	T	T	56990007	C	T	56990007	3	4	43	1	0	0	0	0	1	0	0	0	12330	835	29	3	434	3	PPAP2B	1	56990007	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	10955750	56990007	192260614	12	10375											
HIST2H2BF	440689	genome.wustl.edu	37	chr1	149783548	149783548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgccctcggacacggCgtgcttggccagctcgccgg	3	8	15	15	5	0	0	0	0	0	0	2	1	0	1	3	5	3	2	3	5	0	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:149783548C>T	ENST00000369167.1	-	1	366	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.A111T|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.A111T	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	111					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TCGGACACGGCGTGCTTGGCC	0.627																																																	0													5	6	5					1																	149783548		1742	3601	5343	SO:0001583	missense	0			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.331G>A	1.37:g.149783548C>T	ENSP00000358164:p.Ala111Thr		A8K0U9|B4DLA9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.A111T	ENST00000369167.1	37	c.331	CCDS30846.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421579	0.83559	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.36340	1.26;1.26;1.26	3.57	3.57	0.40892	Histone-fold (2);	0.000000	0.64402	D	0.000015	T	0.36635	0.0974	M	0.86420	2.815	0.49687	D	0.999813	D;D;P	0.65815	0.995;0.987;0.685	B;B;B	0.43445	0.42;0.339;0.1	T	0.54925	-0.8220	10	0.59425	D	0.04	.	14.9566	0.71120	0.0:1.0:0.0:0.0	.	111;111;111	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	T	111	ENSP00000445831:A111T;ENSP00000407461:A111T;ENSP00000358164:A111T	ENSP00000358164:A111T	A	-	1	0	HIST2H2BF	148050172	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	6.976000	0.76135	2.292000	0.77174	0.205000	0.17691	GCC	HIST2H2BF	-	superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000203814		0.627	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2	-	0	45	0	C	NM_001024599		149783548	-1	tier1	-	no_errors	ENST00000427880	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T	T	149783548	C	T	149783548	3	4	43	1	0	0	0	0	1	0	0	0	7207	768	27	1	470	1	HIST2H2BF	1	149783548	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	92793541	149783548	99467073	13	10376											
S100A11	6282	genome.wustl.edu	37	chr1	152005287	152005287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgcggtcaaggacaccagGgtccttctggttctgcagag	8	9	13	11	1	3	1	1	0	2	1	4	2	4	2	2	4	2	2	2	4	1	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:152005287G>T	ENST00000271638.2	-	3	288	c.169C>A	c.(169-171)Cct>Act	p.P57T	NBPF18P_ENST00000432386.1_RNA|S100A11_ENST00000478109.1_5'UTR	NM_005620.1	NP_005611.1	P31949	S10AB_HUMAN	S100 calcium binding protein A11	57	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGACACCAGGGTCCTTCTGG	0.408																																					Colon(152;1751 1834 12462 21158 46902)												0													71	68	69					1																	152005287		2203	4300	6503	SO:0001583	missense	0			D38583	CCDS1009.1	1q21	2013-01-10	2006-09-11		ENSG00000163191	ENSG00000163191		"S100 calcium binding proteins", "EF-hand domain containing"	10488	protein-coding gene	gene with protein product		603114	"S100 calcium-binding protein A11 (calgizzarin)", "S100 calcium binding protein A11 (calgizzarin)"			8985590	Standard	NM_005620		Approved	S100C	uc001ezn.3	P31949	OTTHUMG00000013069	ENST00000271638.2:c.169C>A	1.37:g.152005287G>T	ENSP00000271638:p.Pro57Thr		Q5VTK0	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.P57T	ENST00000271638.2	37	c.169	CCDS1009.1	1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049409	0.55218	.	.	ENSG00000163191	ENST00000271638	T	0.06768	3.26	5.09	5.09	0.68999	EF-hand-like domain (1);	0.000000	0.64402	D	0.000011	T	0.19005	0.0456	M	0.80616	2.505	0.52099	D	0.999941	P	0.49862	0.929	P	0.59487	0.858	T	0.00176	-1.1953	10	0.62326	D	0.03	.	14.3446	0.66651	0.0:0.0:1.0:0.0	.	57	P31949	S10AB_HUMAN	T	57	ENSP00000271638:P57T	ENSP00000271638:P57T	P	-	1	0	S100A11	150271911	1.000000	0.71417	0.997000	0.53966	0.357000	0.29423	4.215000	0.58534	2.529000	0.85273	0.491000	0.48974	CCT	S100A11	-	pfscan_EF_hand_dom	ENSG00000163191		0.408	S100A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A11	HGNC	protein_coding	OTTHUMT00000036676.1		0	50	0	G	NM_005620		152005287	-1			no_errors	ENST00000271638	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.999	T	T	152005287	G	T	152005287	3	4	43	1	0	0	0	0	1	0	0	0	13818	1232	43	3	152	3	S100A11	1	152005287	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	2221739	152005287	97245334	14	10377											
SYT11	23208	genome.wustl.edu	37	chr1	155837837	155837837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgtctttgtctggtcatGctgccaccagcaggcagaga	8	9	12	12	1	3	1	1	0	2	1	3	3	3	1	3	2	3	3	3	2	0	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:155837837G>A	ENST00000368324.4	+	2	369	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	39					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTCTGGTCATGCTGCCACCAG	0.552																																																	0													115	110	112					1																	155837837		2203	4300	6503	SO:0001583	missense	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.116G>A	1.37:g.155837837G>A	ENSP00000357307:p.Cys39Tyr		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.C39Y	ENST00000368324.4	37	c.116	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031107	0.75504	.	.	ENSG00000132718	ENST00000368324	T	0.50548	0.74	5.52	5.52	0.82312	.	0.052900	0.85682	D	0.000000	T	0.43299	0.1241	M	0.62723	1.935	0.80722	D	1	P	0.52316	0.952	B	0.43990	0.438	T	0.52011	-0.8632	10	0.72032	D	0.01	.	19.036	0.92978	0.0:0.0:1.0:0.0	.	39	Q9BT88	SYT11_HUMAN	Y	39	ENSP00000357307:C39Y	ENSP00000357307:C39Y	C	+	2	0	SYT11	154104461	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.252000	0.72447	2.603000	0.88011	0.655000	0.94253	TGC	SYT11	-	NULL	ENSG00000132718		0.552	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1	-	0	42	0	G	NM_152280		155837837	1	tier1	-	no_errors	ENST00000368324	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	155837837	G	A	155837837	3	1	43	1	0	0	0	0	1	0	0	0	15514	1319	46	3	122	3	SYT11	1	155837837	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3832550	155837837	93412784	15	10378											
INSRR	3645	genome.wustl.edu	37	chr1	156816460	156816460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacccctggctcctgggtgCggcttaggggcagctccaca	5	8	13	15	1	1	0	1	0	0	0	3	0	3	0	4	5	2	4	4	5	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:156816460C>T	ENST00000368195.3	-	8	2057	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	554	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> C (in dbSNP:rs56068937). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCTGGGTGCGGCTTAGGGG	0.612																																																	0													83	73	77					1																	156816460		2203	4300	6503	SO:0001583	missense	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1661G>A	1.37:g.156816460C>T	ENSP00000357178:p.Arg554His		O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.R554H	ENST00000368195.3	37	c.1661	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.152426	0.78001	.	.	ENSG00000027644	ENST00000368195	T	0.68624	-0.34	4.85	4.85	0.62838	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.43110	D	0.000609	T	0.37348	0.1000	.	.	.	0.31465	N	0.669049	B	0.26547	0.152	B	0.15870	0.014	T	0.41215	-0.9521	9	0.62326	D	0.03	.	8.9775	0.35944	0.0:0.9014:0.0:0.0986	.	554	P14616	INSRR_HUMAN	H	554	ENSP00000357178:R554H	ENSP00000357178:R554H	R	-	2	0	INSRR	155083084	0.340000	0.24792	1.000000	0.80357	0.991000	0.79684	0.742000	0.26216	2.492000	0.84095	0.655000	0.94253	CGC	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000027644		0.612	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0	35	0	C	NM_014215		156816460	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.997	T	T	156816460	C	T	156816460	3	4	43	1	0	0	0	0	1	0	0	0	7801	768	27	1	2291	1	INSRR	1	156816460	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	978623	156816460	92434161	16	10379											
FCRL1	115350	genome.wustl.edu	37	chr1	157773875	157773875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcccctctgtgggatGggaggggctggctatcaaaa	7	9	16	9	0	2	0	1	0	1	0	3	2	3	2	2	6	0	3	2	6	3	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:157773875G>T	ENST00000368176.3	-	3	146	c.79C>A	c.(79-81)Cat>Aat	p.H27N	FCRL1_ENST00000358292.3_Missense_Mutation_p.H27N|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.H27N	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	27	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTGTGGGATGGGAGGGGCTG	0.498																																					GBM(54;482 1003 11223 30131 35730)												0													67	74	71					1																	157773875		2203	4300	6503	SO:0001583	missense	0			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.79C>A	1.37:g.157773875G>T	ENSP00000357158:p.His27Asn		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H27N	ENST00000368176.3	37	c.79	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	G	8.211	0.800429	0.16397	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11604	2.76;2.76;2.76	4.55	0.356	0.16074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.191250	0.02035	N	0.048830	T	0.03564	0.0102	L	0.39898	1.24	0.09310	N	1	B;B;B	0.25272	0.122;0.032;0.0	B;B;B	0.34536	0.185;0.066;0.001	T	0.41538	-0.9503	10	0.33940	T	0.23	.	3.6705	0.08272	0.19:0.0:0.4759:0.3342	.	27;27;27	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	N	27	ENSP00000351039:H27N;ENSP00000357158:H27N;ENSP00000418130:H27N	ENSP00000351039:H27N	H	-	1	0	FCRL1	156040499	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.127000	0.10547	-0.008000	0.14320	0.655000	0.94253	CAT	FCRL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000163534		0.498	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1		0	86	0	G	NM_052938		157773875	-1			no_errors	ENST00000368176	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	T	T	157773875	G	T	157773875	3	4	43	1	0	0	0	0	1	0	0	0	5816	1348	47	3	1312	3	FCRL1	1	157773875	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	957415	157773875	91476746	17	10380											
ETNK2	55224	genome.wustl.edu	37	chr1	204101362	204101362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcaccttgaagtactGgttgaatcggatcactgcgt	9	12	11	9	2	2	2	2	2	0	0	3	3	2	3	1	3	2	3	1	3	3	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:204101362G>T	ENST00000367202.4	-	8	1261	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K	RP11-74C13.4_ENST00000565388.1_RNA|ETNK2_ENST00000367198.2_Missense_Mutation_p.Q193K|ETNK2_ENST00000367201.3_3'UTR|ETNK2_ENST00000367197.1_Missense_Mutation_p.Q53K|ETNK2_ENST00000367199.2_Missense_Mutation_p.Q302K	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	371					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGAAGTACTGGTTGAATCGG	0.572																																																	0													68	66	67					1																	204101362		1564	3578	5142	SO:0001583	missense	0			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.1111C>A	1.37:g.204101362G>T	ENSP00000356170:p.Gln371Lys		B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.Q371K	ENST00000367202.4	37	c.1111	CCDS1442.2	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202896	0.79127	.	.	ENSG00000143845	ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000367197	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.11	5.11	0.69529	Protein kinase-like domain (1);	.	.	.	.	T	0.73567	0.3603	M	0.86028	2.79	0.44247	D	0.997091	P;P	0.42483	0.732;0.781	P;B	0.47915	0.561;0.358	T	0.77723	-0.2481	9	0.52906	T	0.07	.	15.4511	0.75274	0.0:0.0:1.0:0.0	.	330;371	Q9NVF9-3;Q9NVF9	.;EKI2_HUMAN	K	371;302;237;193;53	ENSP00000356170:Q371K;ENSP00000356167:Q302K;ENSP00000356166:Q193K;ENSP00000356165:Q53K	ENSP00000356165:Q53K	Q	-	1	0	ETNK2	202367985	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.704000	0.68347	2.378000	0.81104	0.655000	0.94253	CAG	ETNK2	-	superfamily_Kinase-like_dom	ENSG00000143845		0.572	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1	-	0	38	0	G	NM_018208		204101362	-1	tier1	-	no_errors	ENST00000367202	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	204101362	G	T	204101362	3	4	43	1	0	0	0	0	1	0	0	0	5290	1357	47	3	53	3	ETNK2	1	204101362	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	46327487	204101362	45149259	18	10381											
DSTYK	25778	genome.wustl.edu	37	chr1	205117394	205117394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaaatgcctcagggagCttgacagagcctgagcagat	11	8	11	11	0	2	4	2	2	1	2	3	5	2	5	2	1	4	2	2	1	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:205117394C>T	ENST00000367162.3	-	12	2571	c.2541G>A	c.(2539-2541)aaG>aaA	p.K847K	DSTYK_ENST00000367161.3_Intron|DSTYK_ENST00000367160.4_Silent_p.K506K	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	847	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.K308N(1)|p.K847N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CCTCAGGGAGCTTGACAGAGC	0.478																																																	2	Substitution - Missense(2)	lung(2)											151	138	143					1																	205117394		2203	4300	6503	SO:0001819	synonymous_variant	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2541G>A	1.37:g.205117394C>T			B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K847	ENST00000367162.3	37	c.2541	CCDS1451.1	1																																																																																			DSTYK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000133059		0.478	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1		0	46	0	C	NM_015375		205117394	-1			no_errors	ENST00000367162	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T	T	205117394	C	T	205117394	2	4	43	1	0	0	0	0	0	0	0	1	4799	796	28	3		3	DSTYK	1	205117394	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	1016032	205117394	44133227	19	10382											
IKBKE	9641	genome.wustl.edu	37	chr1	206652386	206652386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtcctcgagcccagcGtctcagcacagcacatcgcc	7	8	9	17	3	2	0	1	0	2	0	6	1	3	0	3	0	4	2	3	0	0	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:206652386G>A	ENST00000367120.3	+	10	1466	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	IKBKE_ENST00000537984.1_Missense_Mutation_p.V280I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	365					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.V365I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CGAGCCCAGCGTCTCAGCACA	0.622																																																	1	Substitution - Missense(1)	central_nervous_system(1)											104	94	97					1																	206652386		2203	4300	6503	SO:0001583	missense	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1093G>A	1.37:g.206652386G>A	ENSP00000356087:p.Val365Ile		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V365I	ENST00000367120.3	37	c.1093	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	G	5.483	0.274112	0.10403	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.63096	-0.02;0.13	5.97	0.714	0.18180	.	0.458448	0.25616	N	0.029459	T	0.34600	0.0903	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.16129	-1.0413	10	0.21014	T	0.42	0.0532	8.0358	0.30491	0.1123:0.5114:0.3171:0.0592	.	280;365	Q3B754;Q14164	.;IKKE_HUMAN	I	365;280	ENSP00000356087:V365I;ENSP00000444529:V280I	ENSP00000356087:V365I	V	+	1	0	IKBKE	204719009	0.001000	0.12720	0.020000	0.16555	0.243000	0.25628	-0.017000	0.12590	-0.084000	0.12595	-0.911000	0.02809	GTC	IKBKE	-	NULL	ENSG00000143466		0.622	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	-	0	44	0	G			206652386	1	tier1	-	no_errors	ENST00000367120	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.985	A	A	206652386	G	A	206652386	3	1	43	1	0	0	0	0	1	0	0	0	7639	1145	40	1	1123	1	IKBKE	1	206652386	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1534992	206652386	42598235	20	10383											
TGFB2	7042	genome.wustl.edu	37	chr1	218607750	218607750	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccatctaataattacatCatcccaaataaaagtgaaga	19	10	4	8	0	2	2	1	1	1	1	3	2	3	2	2	0	2	1	2	0	8	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:218607750C>A	ENST00000366930.4	+	4	1181	c.714C>A	c.(712-714)atC>atA	p.I238I	TGFB2_ENST00000366929.4_Silent_p.I266I|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	238					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ATAATTACATCATCCCAAATA	0.388																																																	0													67	65	66					1																	218607750		2202	4300	6502	SO:0001819	synonymous_variant	0			M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"Endogenous ligands"	11768	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-2"	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.714C>A	1.37:g.218607750C>A			B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_TGFb2,prints_TGF-beta	p.I266	ENST00000366930.4	37	c.798	CCDS1521.1	1																																																																																			TGFB2	-	pirsf_TGF-beta,prints_TGFb2	ENSG00000092969		0.388	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB2	HGNC	protein_coding	OTTHUMT00000095359.2		0	77	0	C	NM_003238		218607750	1			no_errors	ENST00000366929	ensembl	human	known	74_37	silent	5.00	57	3	SNP	1.000	A	A	218607750	C	A	218607750	2	1	43	1	0	0	0	0	0	0	0	1	15865	816	29	3		3	TGFB2	1	218607750	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	11955364	218607750	30642871	21	10384											
ITPKB	3707	genome.wustl.edu	37	chr1	226923581	226923581	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccaagtcccctctgattGcacccctgtgccacgcgtcc	5	10	7	19	2	1	1	0	1	1	0	4	1	4	1	7	0	2	1	7	0	1	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:226923581G>A	ENST00000272117.3	-	1	1578	c.1579C>T	c.(1579-1581)Caa>Taa	p.Q527*	ITPKB_ENST00000429204.1_Nonsense_Mutation_p.Q527*|ITPKB_ENST00000366784.1_Nonsense_Mutation_p.Q527*			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	527					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCCTCTGATTGCACCCCTGTG	0.632																																					Colon(84;110 1851 5306 33547)												0													50	47	48					1																	226923581		2203	4300	6503	SO:0001587	stop_gained	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1579C>T	1.37:g.226923581G>A	ENSP00000272117:p.Gln527*		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Nonsense_Mutation	SNP	pfam_IPK	p.Q527*	ENST00000272117.3	37	c.1579	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.376227	0.99153	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	.	.	.	5.44	3.54	0.40534	.	0.883252	0.09697	N	0.767507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-4.0E-4	4.8431	0.13500	0.183:0.0:0.6447:0.1723	.	.	.	.	X	527	.	ENSP00000272117:Q527X	Q	-	1	0	ITPKB	224990204	0.011000	0.17503	0.001000	0.08648	0.313000	0.28021	1.953000	0.40352	0.749000	0.32854	0.491000	0.48974	CAA	ITPKB	-	NULL	ENSG00000143772		0.632	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1		0	54	0	G	NM_002221		226923581	-1			no_errors	ENST00000272117	ensembl	human	known	74_37	nonsense	7.32	37	3	SNP	0.000	A	A	226923581	G	A	226923581	4	1	43	1	0	0	0	0	0	1	0	0	7945	1328	46	3	1289	3	ITPKB	1	226923581	Nonsense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	8315831	226923581	22327040	22	10385											
C1orf124	83932	genome.wustl.edu	37	chr1	231488755	231488755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagttctcagagaagggtttCatcttctaagatatccctaa	12	14	7	8	0	4	2	2	0	3	2	6	3	5	2	1	1	0	2	1	1	5	7			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:231488755C>T	ENST00000295050.7	+	5	1454	c.1118C>T	c.(1117-1119)tCa>tTa	p.S373L	SPRTN_ENST00000391858.4_3'UTR	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	373					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										AGAAGGGTTTCATCTTCTAAG	0.413																																																	0													81	82	82					1																	231488755		2203	4300	6503	SO:0001583	missense	0			AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"SprT-like domain at the N terminus", "DNA damage-targeting VCP (p97) adaptor"		"chromosome 1 open reading frame 124"	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.1118C>T	1.37:g.231488755C>T	ENSP00000295050:p.Ser373Leu		B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put	p.S373L	ENST00000295050.7	37	c.1118	CCDS1594.1	1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054787	0.36277	.	.	ENSG00000010072	ENST00000295050	T	0.44083	0.93	4.41	4.41	0.53225	.	1.251120	0.05428	N	0.545367	T	0.31104	0.0786	N	0.14661	0.345	0.37155	D	0.902351	B	0.20887	0.049	B	0.16722	0.016	T	0.01966	-1.1238	10	0.26408	T	0.33	-0.7204	13.3156	0.60405	0.1583:0.8417:0.0:0.0	.	373	Q9H040	CA124_HUMAN	L	373	ENSP00000295050:S373L	ENSP00000295050:S373L	S	+	2	0	C1orf124	229555378	0.029000	0.19370	0.007000	0.13788	0.054000	0.15201	3.258000	0.51507	2.758000	0.94735	0.643000	0.83706	TCA	SPRTN	-	NULL	ENSG00000010072		0.413	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	HGNC	protein_coding	OTTHUMT00000092858.1	-	0	47	0	C	NM_032018		231488755	1	tier1	-	no_errors	ENST00000295050	ensembl	human	known	74_37	missense	44.44	15	12	SNP	0.009	T	T	231488755	C	T	231488755	3	4	43	1	0	0	0	0	1	0	0	0	1999	838	29	3	1171	3	C1orf124	1	231488755	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	4565174	231488755	17761866	23	10386											
ARID4B	51742	genome.wustl.edu	37	chr1	235424033	235424033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttagcactcacatcaGtgcccactgtcaaataggga	12	11	8	10	0	3	0	3	0	0	0	3	1	3	1	1	1	2	2	1	1	4	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:235424033G>C	ENST00000264183.3	-	3	538	c.41C>G	c.(40-42)aCt>aGt	p.T14S	ARID4B_ENST00000366603.2_Missense_Mutation_p.T14S|ARID4B_ENST00000349213.3_Missense_Mutation_p.T14S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	14					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTCACATCAGTGCCCACTGT	0.368																																																	0													96	91	93					1																	235424033		2203	4300	6503	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.41C>G	1.37:g.235424033G>C	ENSP00000264183:p.Thr14Ser		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T14S	ENST00000264183.3	37	c.41	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.300427	0.95601	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.52295	0.82;0.67;0.67;1.15	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.998;0.997	D;D;D;D	0.83275	0.971;0.996;0.994;0.985	T	0.72969	-0.4130	10	0.87932	D	0	-16.5971	19.6077	0.95587	0.0:0.0:1.0:0.0	.	14;14;14;14	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	S	14	ENSP00000264184:T14S;ENSP00000355562:T14S;ENSP00000264183:T14S;ENSP00000391497:T14S	ENSP00000264183:T14S	T	-	2	0	ARID4B	233490656	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.728000	0.93425	0.549000	0.68633	ACT	ARID4B	-	NULL	ENSG00000054267		0.368	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	-	0	86	0	G	NM_016374		235424033	-1	tier1	-	no_errors	ENST00000264183	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	C	C	235424033	G	C	235424033	3	2	43	1	0	0	0	0	1	0	0	0	920	1029	36	5	3985	5	ARID4B	1	235424033	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3935278	235424033	13826588	24	10387											
ZP4	57829	genome.wustl.edu	37	chr1	238051808	238051808	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtatctggagcatctcGggctaggttttgaaaaagag	11	11	13	6	1	3	2	1	1	2	1	4	3	3	3	0	3	1	4	0	3	4	4	rs199659999		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr1:238051808G>T	ENST00000366570.4	-	4	561	c.403C>A	c.(403-405)Cga>Aga	p.R135R	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	135					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGAGCATCTCGGGCTAGGTTT	0.453																																					NSCLC(166;160 2029 11600 18754 19936)												0													86	85	85					1																	238051808		2203	4300	6503	SO:0001819	synonymous_variant	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"Zona pellucida glycoproteins"	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.403C>A	1.37:g.238051808G>T			B2RAE1	Silent	SNP	pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R135	ENST00000366570.4	37	c.403	CCDS1615.1	1																																																																																			ZP4	-	NULL	ENSG00000116996		0.453	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	-	0	71	0	G			238051808	-1	tier1	-	no_errors	ENST00000366570	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.004	T	T	238051808	G	T	238051808	2	4	43	1	0	0	0	0	0	0	0	1	18266	1124	39	2		2	ZP4	1	238051808	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	2627775	238051808	11198813	25	10388											
GREB1	9687	genome.wustl.edu	37	chr2	11780510	11780510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtggcagttccggctgcGcgatgagttccagaccgcca	7	7	14	13	5	0	2	0	1	0	1	2	4	2	2	4	2	1	4	4	2	0	2	rs376907059		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:11780510G>A	ENST00000381486.2	+	33	6080	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H	GREB1_ENST00000396123.1_Missense_Mutation_p.R925H|GREB1_ENST00000234142.5_Missense_Mutation_p.R1927H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1927						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TTCCGGCTGCGCGATGAGTTC	0.607																																					Ovarian(39;850 945 2785 23371 33093)												0													50	60	57					2																	11780510		2018	4161	6179	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5780G>A	2.37:g.11780510G>A	ENSP00000370896:p.Arg1927His		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1927H	ENST00000381486.2	37	c.5780	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884564	0.91814	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.27557	2.99;2.99;1.66	5.04	4.16	0.48862	.	0.104397	0.64402	D	0.000007	T	0.53738	0.1815	M	0.71036	2.16	0.45161	D	0.998173	D	0.89917	1.0	D	0.83275	0.996	T	0.58137	-0.7689	10	0.87932	D	0	-14.6584	13.3282	0.60471	0.0774:0.0:0.9226:0.0	.	1927	Q4ZG55	GREB1_HUMAN	H	1927;1927;925	ENSP00000370896:R1927H;ENSP00000234142:R1927H;ENSP00000379429:R925H	ENSP00000234142:R1927H	R	+	2	0	GREB1	11697961	1.000000	0.71417	0.815000	0.32552	0.970000	0.65996	7.403000	0.79983	1.090000	0.41315	0.563000	0.77884	CGC	GREB1	-	NULL	ENSG00000196208		0.607	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	31	0	G	NM_014668		11780510	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.996	A	A	11780510	G	A	11780510	3	1	43	1	0	0	0	0	1	0	0	0	6787	1087	38	1	6014	1	GREB1	2	11780510	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		11780510	231418863	26	10389											
AAK1	22848	genome.wustl.edu	37	chr2	69732760	69732760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgggttgattgaaagcctGggatcaaactctcagctgag	10	11	12	8	0	2	3	2	3	1	0	3	4	2	4	1	2	3	2	1	2	2	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:69732760G>T	ENST00000409085.4	-	16	2586	c.2210C>A	c.(2209-2211)cCa>cAa	p.P737Q	AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Missense_Mutation_p.P737Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	737					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TTGAAAGCCTGGGATCAAACT	0.483																																																	0													86	84	85					2																	69732760		1898	4114	6012	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2210C>A	2.37:g.69732760G>T	ENSP00000386456:p.Pro737Gln		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P737Q	ENST00000409085.4	37	c.2210	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718681	0.68844	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.30182	1.54;1.54	5.67	5.67	0.87782	.	0.055628	0.64402	D	0.000001	T	0.47040	0.1424	L	0.32530	0.975	0.47862	D	0.999537	D;D;D	0.89917	0.983;0.99;1.0	P;P;D	0.80764	0.799;0.901;0.994	T	0.39440	-0.9614	10	0.59425	D	0.04	-10.121	18.3583	0.90365	0.0:0.0:1.0:0.0	.	737;737;737	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	Q	737	ENSP00000386456:P737Q;ENSP00000385181:P737Q	ENSP00000385181:P737Q	P	-	2	0	AAK1	69586264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.845000	0.55880	2.675000	0.91044	0.655000	0.94253	CCA	AAK1	-	NULL	ENSG00000115977		0.483	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	-	0	75	0	G	NM_014911		69732760	-1	tier1	-	no_errors	ENST00000409085	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	T	T	69732760	G	T	69732760	3	4	43	1	0	0	0	0	1	0	0	0	16	1348	47	3	703	3	AAK1	2	69732760	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	57952250	69732760	173466613	27	10390											
ASPRV1	151516	genome.wustl.edu	37	chr2	70187813	70187813	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggatagctcctgccgcccTtcttctgaggaggggtcctc	4	11	13	13	1	2	1	0	1	2	0	5	3	4	3	4	4	2	1	4	4	1	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:70187813T>C	ENST00000320256.4	-	1	1584	c.1008A>G	c.(1006-1008)gaA>gaG	p.E336E	PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA|PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTGCCGCCCTTCTTCTGAGG	0.552																																																	0													73	77	76					2																	70187813		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"Skin ASpartic Protease"	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.1008A>G	2.37:g.70187813T>C				Silent	SNP	pfam_Peptidase_aspartic_DDI1-type,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,pfscan_Peptidase_A2_cat	p.E336	ENST00000320256.4	37	c.1008	CCDS1897.1	2																																																																																			ASPRV1	-	NULL	ENSG00000244617		0.552	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPRV1	HGNC	protein_coding	OTTHUMT00000334161.1	-	0	73	0	T	NM_152792		70187813	-1	tier1	-	no_errors	ENST00000320256	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.000	C	C	70187813	T	C	70187813	2	2	43	1	0	0	0	0	0	0	0	1	1059	1606	56	4		4	ASPRV1	2	70187813	Silent	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	455053	70187813	173011560	28	10391											
CTNNA2	1496	genome.wustl.edu	37	chr2	80782891	80782891	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtggacactctggaccgGactgcaggggccatcagggg	8	6	17	10	1	2	0	1	0	1	0	2	4	2	3	2	7	1	1	2	7	0	0	rs374667703		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:80782891G>T	ENST00000402739.4	+	11	1619	c.1614G>T	c.(1612-1614)cgG>cgT	p.R538R	CTNNA2_ENST00000540488.1_Silent_p.R538R|CTNNA2_ENST00000361291.4_Silent_p.R572R|CTNNA2_ENST00000541047.1_Silent_p.R538R|CTNNA2_ENST00000466387.1_Silent_p.R538R|CTNNA2_ENST00000343114.3_Silent_p.R217R|CTNNA2_ENST00000496558.1_Silent_p.R538R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	538					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R538R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCTGGACCGGACTGCAGGGG	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											84	83	84					2																	80782891		1877	4111	5988	SO:0001819	synonymous_variant	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1614G>T	2.37:g.80782891G>T			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R572	ENST00000402739.4	37	c.1716		2																																																																																			CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4		0	57	0	G	NM_004389		80782891	1			no_errors	ENST00000361291	ensembl	human	known	74_37	silent	5.13	36	2	SNP	0.998	T	T	80782891	G	T	80782891	2	4	43	1	0	0	0	0	0	0	0	1	4022	1161	41	3		3	CTNNA2	2	80782891	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	10595078	80782891	162416482	29	10392											
ANKRD57	65124	genome.wustl.edu	37	chr2	110372640	110372640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggacaggggcagctccCttgtgggggctaccgcacag	7	5	17	12	2	0	0	0	0	0	0	1	1	1	1	2	6	2	4	2	6	1	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:110372640C>T	ENST00000356454.3	+	1	730	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F	SEPT10_ENST00000397714.2_5'Flank|SEPT10_ENST00000334001.6_5'Flank|SEPT10_ENST00000415095.1_5'Flank|SEPT10_ENST00000545389.1_5'Flank|SEPT10_ENST00000397712.2_5'Flank|SEPT10_ENST00000437928.1_5'Flank|SEPT10_ENST00000356688.4_5'Flank	NM_023016.3	NP_075392.2	Q53LP3	SWAHC_HUMAN	sosondowah ankyrin repeat domain family member C	192																	GGGCAGCTCCCTTGTGGGGGC	0.731																																																	0													5	7	6					2																	110372640		1598	2925	4523	SO:0001583	missense	0			AK023346	CCDS33270.1	2q13	2013-01-10	2012-01-12	2012-01-12	ENSG00000198142	ENSG00000198142		"Ankyrin repeat domain containing"	26149	protein-coding gene	gene with protein product			"ankyrin repeat domain 57"	C2orf26, ANKRD57		22234889	Standard	NM_023016		Approved	FLJ21870	uc002tfb.3	Q53LP3	OTTHUMG00000153219	ENST00000356454.3:c.574C>T	2.37:g.110372640C>T	ENSP00000365830:p.Leu192Phe		Q8NE15|Q9H6U1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L192F	ENST00000356454.3	37	c.574	CCDS33270.1	2	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256842	0.39896	.	.	ENSG00000198142	ENST00000356454	T	0.23147	1.92	4.02	1.93	0.25924	.	0.978510	0.08381	N	0.954608	T	0.18923	0.0454	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28522	-1.0041	10	0.48119	T	0.1	1.081	7.0298	0.24960	0.0:0.6845:0.1371:0.1783	.	192	Q53LP3	ANR57_HUMAN	F	192	ENSP00000365830:L192F	ENSP00000365830:L192F	L	+	1	0	ANKRD57	109729929	0.017000	0.18338	0.001000	0.08648	0.090000	0.18270	2.523000	0.45580	0.173000	0.19788	0.462000	0.41574	CTT	SOWAHC	-	NULL	ENSG00000198142		0.731	SOWAHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHC	HGNC	protein_coding	OTTHUMT00000330168.1	-	0	15	0	C	NM_023016		110372640	1	tier1	-	no_errors	ENST00000356454	ensembl	human	known	74_37	missense	80.00	2	8	SNP	0.005	T	T	110372640	C	T	110372640	3	4	43	1	0	0	0	0	1	0	0	0	683	681	24	3	576	3	ANKRD57	2	110372640	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	29589749	110372640	132826733	30	10393											
RPRM	56475	genome.wustl.edu	37	chr2	154334954	154334954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcgtccgggcctccctcCgcgaagccgtcgtcggtcac	3	7	12	19	8	1	0	1	0	0	0	7	1	4	0	5	2	1	1	5	2	1	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:154334954C>T	ENST00000325926.3	-	1	368	c.126G>A	c.(124-126)gcG>gcA	p.A42A	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	42					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						GGCCTCCCTCCGCGAAGCCGT	0.672																																																	0													84	58	67					2																	154334954		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"candidate mediator of the p53 dependent G2 arrest", "REPRIMO"	612171	"reprimo, TP53 dependant G2 arrest mediator candidate"			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.126G>A	2.37:g.154334954C>T			B2R4V1	Silent	SNP	NULL	p.A42	ENST00000325926.3	37	c.126	CCDS2198.1	2																																																																																			RPRM	-	NULL	ENSG00000177519		0.672	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRM	HGNC	protein_coding	OTTHUMT00000254856.1	-	0	30	0	C	NM_019845		154334954	-1	tier1	-	no_errors	ENST00000325926	ensembl	human	known	74_37	silent	29.41	12	5	SNP	1.000	T	T	154334954	C	T	154334954	2	4	43	1	0	0	0	0	0	0	0	1	13663	639	23	1		1	RPRM	2	154334954	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	43962314	154334954	88864419	31	10394											
DLX2	1746	genome.wustl.edu	37	chr2	172967148	172967148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgctgctgctgctgctgTtgccacccgggccggcgccg	1	8	16	16	4	0	0	0	0	0	0	0	0	0	0	4	3	6	7	4	3	0	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:172967148T>C	ENST00000234198.4	-	1	480	c.119A>G	c.(118-120)aAc>aGc	p.N40S	DLX2_ENST00000466293.2_Missense_Mutation_p.N40S|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	40					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			gctgctgctgttgcCAcccgg	0.687																																					GBM(188;775 2993 11256 23072)												0													13	14	13					2																	172967148		1938	3807	5745	SO:0001583	missense	0			U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"Homeoboxes / ANTP class : NKL subclass"	2915	protein-coding gene	gene with protein product		126255	"distal-less homeo box 2"			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.119A>G	2.37:g.172967148T>C	ENSP00000234198:p.Asn40Ser		B4DMK4|B7ZA14	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.N40S	ENST00000234198.4	37	c.119	CCDS2248.1	2	.	.	.	.	.	.	.	.	.	.	T	1.828	-0.470589	0.04445	.	.	ENSG00000115844	ENST00000234198;ENST00000466293	D;D	0.91686	-2.45;-2.89	3.78	0.793	0.18632	.	0.372870	0.19791	N	0.105987	T	0.76688	0.4022	N	0.08118	0	0.29494	N	0.855433	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.63734	-0.6570	10	0.05959	T	0.93	-3.1839	6.4359	0.21823	0.0:0.6322:0.0:0.3678	.	40;40	B7ZA14;Q07687	.;DLX2_HUMAN	S	40	ENSP00000234198:N40S;ENSP00000446904:N40S	ENSP00000234198:N40S	N	-	2	0	DLX2	172675394	.	.	0.959000	0.39883	0.451000	0.32288	.	.	0.011000	0.14865	-0.366000	0.07423	AAC	DLX2	-	NULL	ENSG00000115844		0.687	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX2	HGNC	protein_coding	OTTHUMT00000255368.3		0	60	0	T			172967148	-1			no_errors	ENST00000234198	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.992	C	C	172967148	T	C	172967148	3	2	43	1	0	0	0	0	1	0	0	0	4585	1725	60	4	879	4	DLX2	2	172967148	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	18632194	172967148	70232225	32	10395											
ZAK	51776	genome.wustl.edu	37	chr2	174074531	174074531	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagccttcctgacaagtgTaactcattcctacacaacaa	14	9	5	13	1	1	1	1	1	0	0	3	2	3	1	3	0	4	1	3	0	5	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:174074531T>C	ENST00000375213.3	+	10	897	c.819T>C	c.(817-819)tgT>tgC	p.C273C	MLTK_ENST00000431503.2_Silent_p.C172C|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000409176.2_Silent_p.C273C|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000539448.1_Silent_p.C273C|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000338983.3_Silent_p.C273C	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CTGACAAGTGTAACTCATTCC	0.468																																																	0													106	92	97					2																	174074531		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000375213.3:c.819T>C	2.37:g.174074531T>C			B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C273	ENST00000375213.3	37	c.819	CCDS42777.1	2																																																																																			MLTK	-	pfscan_Prot_kinase_dom	ENSG00000091436		0.468	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_gn	protein_coding	OTTHUMT00000255401.1		0	34	0	T			174074531	1			no_errors	ENST00000375213	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	C	C	174074531	T	C	174074531	2	2	43	1	0	0	0	0	0	0	0	1	17561	1644	57	4		4	ZAK	2	174074531	Silent	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	1107383	174074531	69124842	33	10396											
FSIP2	401024	genome.wustl.edu	37	chr2	186664503	186664503	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttcctaagaaacatataCgatgattcttcaatttatca	15	14	4	8	1	3	2	2	1	1	1	4	3	4	2	1	0	2	1	1	0	6	8	rs200741240		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:186664503C>G	ENST00000424728.1	+	17	10470	c.10470C>G	c.(10468-10470)taC>taG	p.Y3490*	AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Nonsense_Mutation_p.Y3579*|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3490										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAAACATATACGATGATTCTT	0.323																																																	0																																										SO:0001587	stop_gained	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.10470C>G	2.37:g.186664503C>G	ENSP00000401306:p.Tyr3490*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	NULL	p.Y3579*	ENST00000424728.1	37	c.10737		2	.	.	.	.	.	.	.	.	.	.	C	49	15.525647	0.99836	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	5.32	-1.73	0.08081	.	0.634070	0.14781	N	0.298804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	4.6093	0.12395	0.1659:0.3248:0.0:0.5094	.	.	.	.	X	3579;3490	.	ENSP00000344403:Y3579X	Y	+	3	2	FSIP2	186372748	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.461000	0.02366	-0.147000	0.11254	-0.252000	0.11476	TAC	FSIP2	-	NULL	ENSG00000188738		0.323	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	113	0	C	NM_173651		186664503	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	nonsense	39.34	74	48	SNP	0.000	G	G	186664503	C	G	186664503	4	3	43	1	0	0	0	0	0	1	0	0	6099	547	19	5	10803	5	FSIP2	2	186664503	Nonsense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	12589972	186664503	56534870	34	10397											
GPR55	9290	genome.wustl.edu	37	chr2	231775309	231775309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcaccagtagcgggtaacgGatggccaagaaccggtccat	11	6	12	12	3	1	1	1	0	0	1	2	2	2	2	4	4	3	2	4	4	4	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:231775309G>A	ENST00000392040.1	-	2	561	c.369C>T	c.(367-369)atC>atT	p.I123I	AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.I123I	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	123					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCGGGTAACGGATGGCCAAGA	0.582																																																	0													58	45	50					2																	231775309		2203	4300	6503	SO:0001819	synonymous_variant	0			AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"GPCR / Class A : Orphans"	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.369C>T	2.37:g.231775309G>A			Q8N580	Silent	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I123	ENST00000392040.1	37	c.369	CCDS2480.1	2																																																																																			GPR55	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135898		0.582	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR55	HGNC	protein_coding	OTTHUMT00000332618.1	-	0	48	0	G	NM_005683		231775309	-1	tier1	-	no_errors	ENST00000392039	ensembl	human	known	74_37	silent	44.44	20	16	SNP	0.964	A	A	231775309	G	A	231775309	2	1	43	1	0	0	0	0	0	0	0	1	6725	1164	41	3		3	GPR55	2	231775309	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	45110806	231775309	11424064	35	10398											
USP40	55230	genome.wustl.edu	37	chr2	234438130	234438130	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcattcagtaaatgacaTggaaccccatatcttggatt	13	14	6	8	0	3	1	2	1	1	0	3	3	3	3	2	2	1	1	2	2	4	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:234438130T>C	ENST00000427112.2	-	11	1532	c.1497A>G	c.(1495-1497)ccA>ccG	p.P499P	USP40_ENST00000251722.6_Silent_p.P499P|USP40_ENST00000450966.1_Silent_p.P511P			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	499					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTAAATGACATGGAACCCCAT	0.358																																																	0													88	81	83					2																	234438130		1835	4070	5905	SO:0001819	synonymous_variant	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1497A>G	2.37:g.234438130T>C			Q6NX38|Q70EL0	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P511	ENST00000427112.2	37	c.1533	CCDS46547.1	2																																																																																			USP40	-	NULL	ENSG00000085982		0.358	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1	-	0	102	0	T	XM_114294		234438130	-1	tier1	-	no_errors	ENST00000450966	ensembl	human	known	74_37	silent	38.89	44	28	SNP	0.000	C	C	234438130	T	C	234438130	2	2	43	1	0	0	0	0	0	0	0	1	17121	1451	51	4		4	USP40	2	234438130	Silent	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	2662821	234438130	8761243	36	10399											
ATG4B	23192	genome.wustl.edu	37	chr2	242590455	242590455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacgacactctccggtttgCtgagtttgaagattttcctg	7	15	9	10	2	1	3	0	2	1	1	3	4	2	3	2	1	2	3	2	1	2	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr2:242590455C>G	ENST00000404914.3	+	2	144	c.41C>G	c.(40-42)gCt>gGt	p.A14G	ATG4B_ENST00000491867.1_3'UTR|ATG4B_ENST00000405546.3_Missense_Mutation_p.A14G|ATG4B_ENST00000396411.3_5'UTR|ATG4B_ENST00000474739.2_5'UTR|ATG4B_ENST00000402096.1_5'UTR	NM_013325.4|NM_178326.2	NP_037457.3|NP_847896.1	Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	14					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|positive regulation of autophagy (GO:0010508)|positive regulation of protein catabolic process (GO:0045732)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		CTCCGGTTTGCTGAGTTTGAA	0.448																																					Melanoma(78;458 1323 6342 12171 39523)												0													74	68	70					2																	242590455		1890	4119	6009	SO:0001583	missense	0			AB023160	CCDS46564.1, CCDS46565.1	2q37.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000168397	ENSG00000168397			20790	protein-coding gene	gene with protein product		611338	"APG4 autophagy 4 homolog B (S. cerevisiae)", "ATG4 autophagy related 4 homolog B (S. cerevisiae)"	APG4B		12446702	Standard	NM_013325		Approved	Apg4B, KIAA0943, DKFZp586D1822, AUTL1	uc002wbv.3	Q9Y4P1	OTTHUMG00000151514	ENST00000404914.3:c.41C>G	2.37:g.242590455C>G	ENSP00000384259:p.Ala14Gly		B7WNK2|Q53NU4|Q6ZUV8|Q8WYM9|Q96K07|Q96K96|Q96SZ1|Q9Y2F2	Missense_Mutation	SNP	pfam_Peptidase_C54	p.A14G	ENST00000404914.3	37	c.41	CCDS46564.1	2	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122245	0.37436	.	.	ENSG00000168397	ENST00000405546;ENST00000337606;ENST00000404914;ENST00000425239;ENST00000400771	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.36	5.36	0.76844	.	0.056069	0.64402	D	0.000001	T	0.26593	0.0650	N	0.10972	0.075	0.80722	D	1	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.15052	0.005;0.012;0.001	T	0.06267	-1.0836	10	0.23891	T	0.37	-17.562	16.5673	0.84602	0.0:1.0:0.0:0.0	.	131;102;14	B4DZK0;Q9Y4P1-2;Q9Y4P1	.;.;ATG4B_HUMAN	G	14;131;14;14;14	ENSP00000383964:A14G;ENSP00000384259:A14G;ENSP00000409895:A14G;ENSP00000383582:A14G	ENSP00000336547:A131G	A	+	2	0	ATG4B	242239128	0.997000	0.39634	0.983000	0.44433	0.847000	0.48162	3.154000	0.50693	2.523000	0.85059	0.561000	0.74099	GCT	ATG4B	-	NULL	ENSG00000168397		0.448	ATG4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4B	HGNC	protein_coding	OTTHUMT00000322967.3	-	0	54	0	C	NM_013325		242590455	1	tier1	-	no_errors	ENST00000404914	ensembl	human	known	74_37	missense	52.00	12	13	SNP	0.997	G	G	242590455	C	G	242590455	3	3	43	1	0	0	0	0	1	0	0	0	1098	797	28	5	47	5	ATG4B	2	242590455	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	8152325	242590455	608918	37	10400											
PRRT3	285368	genome.wustl.edu	37	chr3	9990484	9990484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctctgttcggtttacagCtgggccagggtctgagggac	5	11	15	10	1	2	1	0	1	2	0	4	2	2	2	1	4	2	4	1	4	1	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:9990484C>T	ENST00000412055.1	-	3	1258	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	PRRT3_ENST00000411976.2_Missense_Mutation_p.A377T|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	377	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CGGTTTACAGCTGGGCCAGGG	0.637																																																	0													91	97	95					3																	9990484		1856	4095	5951	SO:0001583	missense	0			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1129G>A	3.37:g.9990484C>T	ENSP00000392511:p.Ala377Thr		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	NULL	p.A377T	ENST00000412055.1	37	c.1129	CCDS43049.1	3	.	.	.	.	.	.	.	.	.	.	C	9.451	1.090573	0.20471	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.20463	2.51;2.07	5.17	-2.41	0.06562	.	0.700875	0.12466	N	0.466423	T	0.07908	0.0198	N	0.16656	0.425	0.09310	N	1	B;B	0.30709	0.291;0.004	B;B	0.26693	0.072;0.01	T	0.28170	-1.0052	9	.	.	.	-0.7894	0.7949	0.01064	0.2555:0.3448:0.1261:0.2736	.	377;377	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	T	377	ENSP00000392511:A377T;ENSP00000404512:A377T	.	A	-	1	0	PRRT3	9965484	0.002000	0.14202	0.023000	0.16930	0.704000	0.40688	-0.034000	0.12225	-0.363000	0.08101	-0.182000	0.12963	GCT	PRRT3	-	NULL	ENSG00000163704		0.637	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT3	HGNC	protein_coding	OTTHUMT00000339322.1	-	0	61	0	C	NM_207351		9990484	-1	tier1	-	no_errors	ENST00000295984	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	T	T	9990484	C	T	9990484	3	4	43	1	0	0	0	0	1	0	0	0	12653	797	28	3	1824	3	PRRT3	3	9990484	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09		9990484	188031946	38	10401											
GRIP2	80852	genome.wustl.edu	37	chr3	14549126	14549126	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagccacctgcaggaggtGgatggcctcgctcagcggcc	6	6	14	15	2	1	0	1	0	0	0	3	2	2	2	5	5	3	2	5	5	0	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:14549126G>A	ENST00000273083.3	-	0	2225							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGCAGGAGGTGGATGGCCTCG	0.602																																																	0													63	70	68					3																	14549126		2046	4190	6236			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14549126G>A			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.602	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	-	0	64	0	G	NM_001080423		14549126	-1	tier1	-	no_errors	ENST00000273083	ensembl	human	known	74_37	rna	39.58	29	19	SNP	1.000	A	A	14549126	G	A	14549126	1	1	43	0	1	0	0	0	0	0	0	0	6815	1348	47	3		3	GRIP2	3	14549126	RNA	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	4558642	14549126	183473304	39	10402											
ARPP21	10777	genome.wustl.edu	37	chr3	35770848	35770848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatcgctgtcccgcacccatCcacctctccagagcacaccc	8	6	6	21	2	1	1	0	0	1	1	5	2	3	1	6	0	1	3	6	0	0	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:35770848C>T	ENST00000187397.4	+	15	1735	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	ARPP21_ENST00000444190.1_Missense_Mutation_p.P373S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P373S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P393S|ARPP21_ENST00000458225.1_Missense_Mutation_p.P393S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	427					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCGCACCCATCCACCTCTCCA	0.562																																																	0													65	66	66					3																	35770848		2203	4300	6503	SO:0001583	missense	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"R3H domain containing 3"	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1279C>T	3.37:g.35770848C>T	ENSP00000187397:p.Pro427Ser		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.P393S	ENST00000187397.4	37	c.1177	CCDS2661.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.223|8.223	0.802903|0.802903	0.16397|0.16397	.|.	.|.	ENSG00000172995|ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925|ENST00000425289	T;T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84;0.84|.	6.06|6.06	4.23|4.23	0.50019|0.50019	.|.	0.812665|.	0.11631|.	N|.	0.544752|.	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.03209|0.03209	-0.39|-0.39	0.46011|0.46011	D|D	0.998819|0.998819	B;B;B|.	0.15930|.	0.015;0.015;0.015|.	B;B;B|.	0.23419|.	0.046;0.021;0.029|.	T|T	0.13124|0.13124	-1.0521|-1.0521	10|5	0.27785|.	T|.	0.31|.	-1.3753|-1.3753	16.7724|16.7724	0.85542|0.85542	0.0:0.7564:0.2436:0.0|0.0:0.7564:0.2436:0.0	.|.	393;427;373|.	Q9UBL0-3;Q9UBL0;Q9UBL0-4|.	.;ARP21_HUMAN;.|.	S|F	393;373;373;427;393|199	ENSP00000414351:P393S;ENSP00000337792:P373S;ENSP00000405276:P373S;ENSP00000187397:P427S;ENSP00000412326:P393S|.	ENSP00000187397:P427S|.	P|S	+|+	1|2	0|0	ARPP21|ARPP21	35745852|35745852	0.984000|0.984000	0.35163|0.35163	0.023000|0.023000	0.16930|0.16930	0.820000|0.820000	0.46376|0.46376	3.982000|3.982000	0.56909|0.56909	0.845000|0.845000	0.35118|0.35118	0.650000|0.650000	0.86243|0.86243	CCA|TCC	ARPP21	-	NULL	ENSG00000172995		0.562	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2		0	43	0	C	NM_198399		35770848	1			no_errors	ENST00000417925	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.943	T	T	35770848	C	T	35770848	3	4	43	1	0	0	0	0	1	0	0	0	979	855	30	3	1342	3	ARPP21	3	35770848	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	21221722	35770848	162251582	40	10403											
TMEM42	131616	genome.wustl.edu	37	chr3	44905743	44905743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatggcgagcaccaattctCtgatgtggaccttctttagc	8	13	10	10	1	2	2	0	2	2	0	3	4	2	3	2	2	2	1	2	2	2	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:44905743C>T	ENST00000302392.4	+	2	303	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	MIR564_ENST00000385049.1_RNA	NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	83						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		CACCAATTCTCTGATGTGGAC	0.507																																																	0													295	254	268					3																	44905743		2203	4300	6503	SO:0001819	synonymous_variant	0			AL834253	CCDS2722.1	3p21.31	2005-01-19			ENSG00000169964	ENSG00000169964			28444	protein-coding gene	gene with protein product						12477932	Standard	NM_144638		Approved	MGC29956	uc003cnz.3	Q69YG0	OTTHUMG00000133092	ENST00000302392.4:c.247C>T	3.37:g.44905743C>T			Q8WUQ6	Silent	SNP	NULL	p.L83	ENST00000302392.4	37	c.247	CCDS2722.1	3																																																																																			TMEM42	-	NULL	ENSG00000169964		0.507	TMEM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM42	HGNC	protein_coding	OTTHUMT00000256750.2	-	0	90	0	C	NM_144638		44905743	1	tier1	-	no_errors	ENST00000302392	ensembl	human	known	74_37	silent	32.97	61	30	SNP	0.963	T	T	44905743	C	T	44905743	2	4	43	1	0	0	0	0	0	0	0	1	16213	912	32	3		3	TMEM42	3	44905743	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	9134895	44905743	153116687	41	10404											
C3orf62	375341	genome.wustl.edu	37	chr3	49308821	49308821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacacatgtggttcaatTcgttttcaaattctattttt	10	18	5	8	1	3	0	2	0	1	0	4	1	3	0	1	1	0	2	1	1	3	8			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:49308821T>C	ENST00000343010.3	-	3	1632	c.596A>G	c.(595-597)gAa>gGa	p.E199G	MIR4271_ENST00000582451.1_RNA|Y_RNA_ENST00000362676.1_RNA	NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	199										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGTTCAATTCGTTTTCAAA	0.433																																																	0													70	73	72					3																	49308821		2203	4300	6503	SO:0001583	missense	0			AK125642	CCDS2792.1	3p21.31	2006-02-11			ENSG00000188315	ENSG00000188315			24771	protein-coding gene	gene with protein product						12477932	Standard	NM_198562		Approved	FLJ43654	uc003cwn.2	Q6ZUJ4	OTTHUMG00000156819	ENST00000343010.3:c.596A>G	3.37:g.49308821T>C	ENSP00000341139:p.Glu199Gly		Q6P7E9|Q7Z3X6	Missense_Mutation	SNP	NULL	p.E199G	ENST00000343010.3	37	c.596	CCDS2792.1	3	.	.	.	.	.	.	.	.	.	.	T	14.13	2.444621	0.43429	.	.	ENSG00000188315	ENST00000343010	T	0.60424	0.19	5.3	4.13	0.48395	.	0.131007	0.34507	N	0.003916	T	0.51550	0.1681	L	0.34521	1.04	0.29343	N	0.865903	P	0.49635	0.926	P	0.48654	0.585	T	0.53394	-0.8445	10	0.87932	D	0	-17.8214	9.2452	0.37520	0.0:0.0:0.182:0.8179	.	199	Q6ZUJ4	CC062_HUMAN	G	199	ENSP00000341139:E199G	ENSP00000341139:E199G	E	-	2	0	C3orf62	49283825	0.875000	0.30112	0.370000	0.25965	0.030000	0.12068	2.729000	0.47327	1.004000	0.39156	0.477000	0.44152	GAA	C3orf62	-	NULL	ENSG00000188315		0.433	C3orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf62	HGNC	protein_coding	OTTHUMT00000345990.1	-	0	56	0	T	NM_198562		49308821	-1	tier1	-	no_errors	ENST00000343010	ensembl	human	known	74_37	missense	59.09	18	26	SNP	0.831	C	C	49308821	T	C	49308821	3	2	43	1	0	0	0	0	1	0	0	0	2245	1783	62	4	211	4	C3orf62	3	49308821	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	4403078	49308821	148713609	42	10405											
TRAIP	10293	genome.wustl.edu	37	chr3	49881278	49881278	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgcccaaggcctgctGcagagataccacagtagcat	10	7	11	13	0	0	1	0	0	0	1	0	2	0	1	4	2	5	4	4	2	3	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:49881278G>A	ENST00000331456.2	-	5	477	c.364C>T	c.(364-366)Cag>Tag	p.Q122*	TRAIP_ENST00000469027.1_Intron|TRAIP_ENST00000473863.1_5'Flank	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	122					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGGCCTGCTGCAGAGATACC	0.532																																																	0													205	164	178					3																	49881278		2203	4300	6503	SO:0001587	stop_gained	0			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.364C>T	3.37:g.49881278G>A	ENSP00000328203:p.Gln122*		B5BU84|B5BUL3|O00467	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.Q122*	ENST00000331456.2	37	c.364	CCDS2806.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278718	0.80692	.	.	ENSG00000183763	ENST00000331456;ENST00000482582;ENST00000482243	.	.	.	5.28	5.28	0.74379	.	0.158259	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-7.9264	16.0575	0.80816	0.0:0.0:1.0:0.0	.	.	.	.	X	122;106;124	.	ENSP00000328203:Q122X	Q	-	1	0	TRAIP	49856282	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.401000	0.59716	2.474000	0.83562	0.561000	0.74099	CAG	TRAIP	-	superfamily_Prefoldin	ENSG00000183763		0.532	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1	-	0	55	0	G	NM_005879		49881278	-1	tier1	-	no_errors	ENST00000331456	ensembl	human	known	74_37	nonsense	41.30	27	19	SNP	1.000	A	A	49881278	G	A	49881278	4	1	43	1	0	0	0	0	0	1	0	0	16496	1328	46	3	1089	3	TRAIP	3	49881278	Nonsense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	572457	49881278	148141152	43	10406											
PRKCD	5580	genome.wustl.edu	37	chr3	53221364	53221364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcttgcccaggttttatgCcgctgagataatgtgtggac	7	14	11	9	1	1	1	0	1	1	1	2	3	1	2	2	2	2	2	2	2	2	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:53221364C>T	ENST00000394729.2	+	14	1689	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	PRKCD_ENST00000330452.3_Missense_Mutation_p.A454V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGGTTTTATGCCGCTGAGATA	0.587																																																	0													133	130	131					3																	53221364		2203	4300	6503	SO:0001583	missense	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1361C>T	3.37:g.53221364C>T	ENSP00000378217:p.Ala454Val		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.A454V	ENST00000394729.2	37	c.1361	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466308	0.84425	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.65732	-0.17;-0.17	5.47	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.314985	0.33199	N	0.005174	T	0.49355	0.1552	L	0.28556	0.865	0.35936	D	0.832857	P	0.46457	0.878	B	0.39217	0.294	T	0.65096	-0.6251	10	0.62326	D	0.03	.	13.8927	0.63750	0.0:0.7762:0.2238:0.0	.	454	Q05655	KPCD_HUMAN	V	454	ENSP00000378217:A454V;ENSP00000331602:A454V	ENSP00000331602:A454V	A	+	2	0	PRKCD	53196404	0.894000	0.30519	0.952000	0.39060	0.896000	0.52359	1.727000	0.38095	2.572000	0.86782	0.591000	0.81541	GCC	PRKCD	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom	ENSG00000163932		0.587	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1		0	90	0	C			53221364	1			no_errors	ENST00000330452	ensembl	human	known	74_37	missense	6.02	77	5	SNP	0.392	T	T	53221364	C	T	53221364	3	4	43	1	0	0	0	0	1	0	0	0	12551	739	26	3	1411	3	PRKCD	3	53221364	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	3340086	53221364	144801066	44	10407											
FLNB	2317	genome.wustl.edu	37	chr3	58092574	58092574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggccttcatccacccaGccacgggaggctacaaccct	10	6	8	17	1	1	0	1	0	0	0	2	1	2	1	5	3	3	1	5	3	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:58092574G>T	ENST00000295956.4	+	12	2080	c.1915G>T	c.(1915-1917)Gcc>Tcc	p.A639S	FLNB_ENST00000493452.1_Missense_Mutation_p.A470S|FLNB_ENST00000357272.4_Missense_Mutation_p.A639S|FLNB_ENST00000490882.1_Missense_Mutation_p.A639S|FLNB_ENST00000348383.5_Missense_Mutation_p.A639S|FLNB_ENST00000419752.2_Missense_Mutation_p.A470S|FLNB_ENST00000429972.2_Missense_Mutation_p.A639S|FLNB_ENST00000358537.3_Missense_Mutation_p.A639S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	639					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CATCCACCCAGCCACGGGAGG	0.557																																																	0													119	87	98					3																	58092574		2203	4300	6503	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1915G>T	3.37:g.58092574G>T	ENSP00000295956:p.Ala639Ser		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A639S	ENST00000295956.4	37	c.1915	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227956	0.58777	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.92	4.12	0.48240	Immunoglobulin E-set (1);	0.095222	0.64402	D	0.000001	D	0.89019	0.6596	L	0.61218	1.895	0.46298	D	0.998975	B;P;B;B;B;B	0.41450	0.364;0.75;0.249;0.399;0.249;0.249	B;B;B;B;B;B	0.43155	0.209;0.41;0.103;0.287;0.103;0.103	D	0.87179	0.2226	10	0.35671	T	0.21	.	10.8486	0.46757	0.0669:0.0:0.8012:0.1319	.	639;639;470;470;639;639	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	S	639;639;639;639;639;639;470;470	ENSP00000295956:A639S;ENSP00000420213:A639S;ENSP00000351339:A639S;ENSP00000415599:A639S;ENSP00000232447:A639S;ENSP00000349819:A639S;ENSP00000418510:A470S;ENSP00000414532:A470S	ENSP00000295956:A639S	A	+	1	0	FLNB	58067614	1.000000	0.71417	0.411000	0.26484	0.915000	0.54546	5.518000	0.67068	1.513000	0.48852	0.650000	0.86243	GCC	FLNB	-	superfamily_Ig_E-set,smart_Filamin	ENSG00000136068		0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1		0	31	0	G	NM_001457		58092574	1			no_errors	ENST00000295956	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.923	T	T	58092574	G	T	58092574	3	4	43	1	0	0	0	0	1	0	0	0	5956	971	34	3	1961	3	FLNB	3	58092574	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	4871210	58092574	139929856	45	10408											
SUCLG2	8801	genome.wustl.edu	37	chr3	67426275	67426275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttctgggcctcttggaCgttggttcctagaaggggga	6	13	14	8	1	3	1	0	0	3	1	4	3	4	3	2	5	0	2	2	5	3	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:67426275C>T	ENST00000307227.5	-	11	1219	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	SUCLG2_ENST00000493112.1_Intron	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	398					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP binding (GO:0005524)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	GCCTCTTGGACGTTGGTTCCT	0.517																																																	0													63	62	62					3																	67426275		1939	4133	6072	SO:0001583	missense	0			AF058954	CCDS43104.1, CCDS54605.1	3p14.3	2004-05-17			ENSG00000172340	ENSG00000172340	6.2.1.4		11450	protein-coding gene	gene with protein product		603922				9765291	Standard	NM_001177599		Approved		uc003dna.4	Q96I99	OTTHUMG00000158740	ENST00000307227.5:c.1192G>A	3.37:g.67426275C>T	ENSP00000307432:p.Val398Ile		C9JVT2|O95195|Q6NUH7|Q86VX8|Q8WUQ1	Missense_Mutation	SNP	pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	p.V398I	ENST00000307227.5	37	c.1192	CCDS43104.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.00|16.00	2.998014|2.998014	0.54147|0.54147	.|.	.|.	ENSG00000172340|ENSG00000172340	ENST00000460567|ENST00000307227;ENST00000541608	.|T	.|0.74737	.|-0.87	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80711|0.80711	0.4675|0.4675	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|P;B	.|0.46020	.|0.871;0.123	.|P;B	.|0.50082	.|0.63;0.027	T|T	0.82924|0.82924	-0.0216|-0.0216	5|10	.|0.72032	.|D	.|0.01	.|.	16.4035|16.4035	0.83650|0.83650	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|216;398	.|F5H4S7;Q96I99	.|.;SUCB2_HUMAN	H|I	155|398;216	.|ENSP00000307432:V398I	.|ENSP00000307432:V398I	R|V	-|-	2|1	0|0	SUCLG2|SUCLG2	67508965|67508965	1.000000|1.000000	0.71417|0.71417	0.894000|0.894000	0.35097|0.35097	0.201000|0.201000	0.24016|0.24016	6.739000|6.739000	0.74827|0.74827	2.676000|2.676000	0.91093|0.91093	0.563000|0.563000	0.77884|0.77884	CGT|GTC	SUCLG2	-	pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	ENSG00000172340		0.517	SUCLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG2	HGNC	protein_coding	OTTHUMT00000351993.1	-	0	93	0	C	NM_003848		67426275	-1	tier1	-	no_errors	ENST00000307227	ensembl	human	known	74_37	missense	33.75	53	27	SNP	1.000	T	T	67426275	C	T	67426275	3	4	43	1	0	0	0	0	1	0	0	0	15412	536	19	1	254	1	SUCLG2	3	67426275	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	9333701	67426275	130596155	46	10409											
CLDND1	56650	genome.wustl.edu	37	chr3	98240278	98240278	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggttatccattctggcattCagactgctctgtttagaagt	8	15	9	9	1	3	2	1	0	2	2	4	2	4	2	1	2	1	4	1	2	3	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:98240278C>T	ENST00000503004.1	-	0	870				CLDND1_ENST00000437922.1_Silent_p.L20L|CLDND1_ENST00000394181.2_5'UTR|CLDND1_ENST00000513287.1_5'UTR|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000507874.1_5'UTR|CLDND1_ENST00000394180.2_5'UTR|CLDND1_ENST00000394185.2_5'UTR|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000341181.6_5'UTR|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000510545.1_5'UTR			Q9NY35	CLDN1_HUMAN	claudin domain containing 1							apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TTCTGGCATTCAGACTGCTCT	0.388																																																	0													77	77	77					3																	98240278		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 4"	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35		ENST00000503004.1:c.-10G>A	3.37:g.98240278C>T			B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin	p.L20	ENST00000503004.1	37	c.60	CCDS2930.1	3																																																																																			CLDND1	-	NULL	ENSG00000080822		0.388	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND1	HGNC	protein_coding	OTTHUMT00000359071.1		0	15	0	C	NM_019895		98240278	-1			no_errors	ENST00000437922	ensembl	human	known	74_37	silent	27.78	13	5	SNP	1.000	T	T	98240278	C	T	98240278	1	4	43	0	1	0	0	0	0	0	0	0	3500	813	29	3		3	CLDND1	3	98240278	5'UTR	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	30814003	98240278	99782152	47	10410											
NFKBIZ	64332	genome.wustl.edu	37	chr3	101572494	101572494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcacttgcacagcttcaGcatgatgcccagcagcgcct	8	9	9	15	1	2	1	2	1	0	0	2	1	2	1	2	0	7	5	2	0	0	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:101572494G>T	ENST00000326172.5	+	5	1239	c.1124G>T	c.(1123-1125)aGc>aTc	p.S375I	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.S253I|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.S275I	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	375	Required for transcriptional activity. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CACAGCTTCAGCATGATGCCC	0.498																																																	0													104	108	107					3																	101572494		2203	4300	6503	SO:0001583	missense	0			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1124G>T	3.37:g.101572494G>T	ENSP00000325663:p.Ser375Ile		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S375I	ENST00000326172.5	37	c.1124	CCDS2946.1	3	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346070	0.24426	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.58506	0.35;0.33;0.58;0.36	5.65	-0.796	0.10912	.	0.505775	0.22410	N	0.060423	T	0.47525	0.1450	L	0.47716	1.5	0.09310	N	1	D;P	0.53151	0.958;0.558	P;B	0.47981	0.563;0.107	T	0.42292	-0.9460	10	0.54805	T	0.06	-17.1799	3.3623	0.07192	0.2745:0.1003:0.5228:0.1023	.	253;375	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	I	275;275;253;375	ENSP00000419800:S275I;ENSP00000377618:S275I;ENSP00000325593:S253I;ENSP00000325663:S375I	ENSP00000325593:S253I	S	+	2	0	NFKBIZ	103055184	0.002000	0.14202	0.006000	0.13384	0.058000	0.15608	0.050000	0.14120	-0.117000	0.11872	0.563000	0.77884	AGC	NFKBIZ	-	NULL	ENSG00000144802		0.498	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1	-	0	57	0	G	NM_031419		101572494	1	tier1	-	no_errors	ENST00000326172	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.006	T	T	101572494	G	T	101572494	3	4	43	1	0	0	0	0	1	0	0	0	10422	971	34	3	1142	3	NFKBIZ	3	101572494	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3332216	101572494	96449936	48	10411											
SEMA5B	54437	genome.wustl.edu	37	chr3	122631054	122631054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacatagtgcctcctccGtgtgcagcccgagacagatg	8	8	12	13	2	0	2	0	0	0	2	2	3	2	2	4	1	3	2	4	1	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:122631054G>A	ENST00000357599.3	-	19	3247	c.2861C>T	c.(2860-2862)aCg>aTg	p.T954M	SEMA5B_ENST00000195173.4_Missense_Mutation_p.T953M|SEMA5B_ENST00000451055.2_Missense_Mutation_p.T1008M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	954	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGCCTCCTCCGTGTGCAGCCC	0.652																																																	0													59	49	53					3																	122631054		2203	4300	6503	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2861C>T	3.37:g.122631054G>A	ENSP00000350215:p.Thr954Met		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.T1008M	ENST00000357599.3	37	c.3023	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196653	0.79015	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.55	4.55	0.56014	.	0.055650	0.64402	D	0.000001	T	0.66479	0.2793	L	0.52206	1.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.989	T	0.64028	-0.6503	10	0.33940	T	0.23	.	16.4825	0.84161	0.0:0.0:1.0:0.0	.	860;954	D3YTI7;Q9P283	.;SEM5B_HUMAN	M	954;953;860;1008;954	ENSP00000350215:T954M;ENSP00000195173:T953M;ENSP00000389588:T1008M;ENSP00000377208:T954M	ENSP00000195173:T953M	T	-	2	0	SEMA5B	124113744	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.640000	0.98453	2.365000	0.80145	0.511000	0.50034	ACG	SEMA5B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000082684		0.652	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	-	0	29	0	G	NM_001031702		122631054	-1	tier1	-	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	A	A	122631054	G	A	122631054	3	1	43	1	0	0	0	0	1	0	0	0	14083	1145	40	1	614	1	SEMA5B	3	122631054	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	21058560	122631054	75391376	49	10412											
NLGN1	22871	genome.wustl.edu	37	chr3	173322858	173322858	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaagactgcctatatttaaAtatatatgtcccgactgagg	13	12	8	8	2	0	2	0	1	0	1	1	4	1	2	2	1	1	0	2	1	8	7			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:173322858A>C	ENST00000457714.1	+	3	899	c.470A>C	c.(469-471)aAt>aCt	p.N157T	NLGN1_ENST00000401917.3_Missense_Mutation_p.N157T|NLGN1_ENST00000545397.1_Missense_Mutation_p.N157T|NLGN1_ENST00000361589.4_Missense_Mutation_p.N157T	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	157					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTATATTTAAATATATATGTC	0.348																																																	0													76	81	79					3																	173322858		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.470A>C	3.37:g.173322858A>C	ENSP00000392500:p.Asn157Thr		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.N157T	ENST00000457714.1	37	c.470	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263226	0.59431	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94948	0.8097	10	0.87932	D	0	.	16.1135	0.81278	1.0:0.0:0.0:0.0	.	157;157	D2X2H5;Q8N2Q7-2	.;.	T	157	ENSP00000392500:N157T;ENSP00000354541:N157T;ENSP00000410374:N157T;ENSP00000441108:N157T;ENSP00000385750:N157T	ENSP00000354541:N157T	N	+	2	0	NLGN1	174805552	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	8.910000	0.92685	2.267000	0.75376	0.383000	0.25322	AAT	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.348	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	32	0	A	NM_014932		173322858	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	C	C	173322858	A	C	173322858	3	2	43	1	0	0	0	0	1	0	0	0	10500	101	4	4	472	4	NLGN1	3	173322858	Missense_Mutation	SNP	A	TCGA-JY-A93C-01A-11D-A387-09	50691804	173322858	24699572	50	10413											
ACTL6A	86	genome.wustl.edu	37	chr3	179305771	179305771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatatgaagaaggagggaaGcagtgtgtagaaagaaaatg	19	6	15	1	0	0	4	0	1	0	3	0	7	0	6	0	2	1	2	0	2	9	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:179305771G>A	ENST00000429709.2	+	14	1476	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	ACTL6A_ENST00000450518.2_Silent_p.K379K|ACTL6A_ENST00000392662.1_Silent_p.K379K	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	421					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAGGAGGGAAGCAGTGTGTAG	0.363																																																	0													87	105	99					3																	179305771		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"INO80 complex subunits"	24124	protein-coding gene	gene with protein product	"BAF complex 53 kDa subunit", "BRG1-associated factor", "actin-related protein 4", "INO80 complex subunit K"	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1263G>A	3.37:g.179305771G>A			B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.K421	ENST00000429709.2	37	c.1263	CCDS3231.1	3																																																																																			ACTL6A	-	pfam_Actin-related,smart_Actin-related	ENSG00000136518		0.363	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	-	0	39	0	G	NM_004301		179305771	1	tier1	-	no_errors	ENST00000429709	ensembl	human	known	74_37	silent	46.67	16	14	SNP	1.000	A	A	179305771	G	A	179305771	2	1	43	1	0	0	0	0	0	0	0	1	198	962	34	3		3	ACTL6A	3	179305771	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	5982913	179305771	18716659	51	10414											
ECE2	9718	genome.wustl.edu	37	chr3	183995996	183995996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccctgggaccaggacaaCtttatggaggtgttgaaggc	9	8	16	8	0	0	1	0	1	0	0	0	4	0	4	2	6	1	1	2	6	3	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:183995996C>T	ENST00000402825.3	+	6	999	c.999C>T	c.(997-999)aaC>aaT	p.N333N	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Silent_p.N215N|ECE2_ENST00000359140.4_Silent_p.N186N|ECE2_ENST00000357474.5_Silent_p.N261N	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	333	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGGACAACTTTATGGAGG	0.517																																																	0													88	86	86					3																	183995996		2203	4300	6503	SO:0001819	synonymous_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.999C>T	3.37:g.183995996C>T			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.N333	ENST00000402825.3	37	c.999	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.517	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0	61	0	C	NM_014693		183995996	1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	silent	38.64	27	17	SNP	1.000	T	T	183995996	C	T	183995996	2	4	43	1	0	0	0	0	0	0	0	1	4904	564	20	3		3	ECE2	3	183995996	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	4690225	183995996	14026434	52	10415											
RTP2	344892	genome.wustl.edu	37	chr3	187416574	187416574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactggccaccatcctcctcGtagcactgctcgcgcaggct	6	9	9	17	3	0	0	0	0	0	0	4	0	2	0	4	2	3	5	4	2	2	2	rs376471256		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr3:187416574G>A	ENST00000358241.1	-	2	818	c.390C>T	c.(388-390)taC>taT	p.Y130Y		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	130					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CATCCTCCTCGTAGCACTGCT	0.662																																																	0								G		0,4406		0,0,2203	36	31	33		390	2.2	1	3		33	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RTP2	NM_001004312.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		130/226	187416574	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.390C>T	3.37:g.187416574G>A			Q6NVH4	Silent	SNP	NULL	p.Y130	ENST00000358241.1	37	c.390	CCDS33911.1	3																																																																																			RTP2	-	NULL	ENSG00000198471		0.662	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	-	0	38	0	G	NM_001004312		187416574	-1	tier1	-	no_errors	ENST00000358241	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.974	A	A	187416574	G	A	187416574	2	1	43	1	0	0	0	0	0	0	0	1	13779	1140	40	1		1	RTP2	3	187416574	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3420578	187416574	10605856	53	10416											
MFSD10	10227	genome.wustl.edu	37	chr4	2933849	2933849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggctgagcagatcagccGcatcacggaaccccagggcg	9	3	16	13	3	2	2	2	1	0	1	2	3	2	3	3	4	3	3	3	4	1	0	rs200375938	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:2933849G>A	ENST00000329687.4	-	6	1259	c.725C>T	c.(724-726)gCg>gTg	p.A242V	NOP14-AS1_ENST00000505731.1_RNA|MFSD10_ENST00000514800.1_Missense_Mutation_p.A242V|NOP14-AS1_ENST00000507999.1_RNA|MFSD10_ENST00000507555.1_Missense_Mutation_p.A242V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A242V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A242V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	242					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGATCAGCCGCATCACGGAA	0.667													G|||	7	0.00139776	0	0	5008	,	,		17280	0.005		0.001	False		,,,				2504	0.001																0								G	VAL/ALA,VAL/ALA	0,4400		0,0,2200	24	24	24		725,725	4.7	0	4		24	3,8589		0,3,4293	yes	missense,missense	MFSD10	NM_001120.4,NM_001146069.1	64,64	0,3,6493	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	242/456,242/456	2933849	3,12989	2200	4296	6496	SO:0001583	missense	0			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.725C>T	4.37:g.2933849G>A	ENSP00000332646:p.Ala242Val		Q07706	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A242V	ENST00000329687.4	37	c.725	CCDS3365.1	4	6	0.0027472527472527475	0	0.0	0	0.0	4	0.006993006993006993	2	0.002638522427440633	G	21.0	4.077615	0.76528	0.0	3.49E-4	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221;ENST00000507555	T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48	4.69	4.69	0.59074	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.167381	0.53938	D	0.000060	T	0.81941	0.4929	M	0.79123	2.44	0.09310	N	0.999996	P;D;P;P	0.54207	0.907;0.965;0.935;0.907	P;P;P;P	0.52066	0.558;0.689;0.449;0.638	T	0.78099	-0.2336	10	0.46703	T	0.11	-25.3775	16.194	0.82011	0.0:0.0:1.0:0.0	.	242;242;242;242	D6RIZ4;D6RE79;D6RA47;Q14728	.;.;.;MFS10_HUMAN	V	242	ENSP00000426907:A242V;ENSP00000347619:A242V;ENSP00000332646:A242V;ENSP00000425757:A242V;ENSP00000423402:A242V	ENSP00000332646:A242V	A	-	2	0	MFSD10	2903647	0.661000	0.27430	0.005000	0.12908	0.004000	0.04260	3.978000	0.56881	2.156000	0.67533	0.637000	0.83480	GCG	MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000109736		0.667	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2		0	33	0	G	NM_001120		2933849	-1			no_errors	ENST00000329687	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.058	A	A	2933849	G	A	2933849	3	1	43	1	0	0	0	0	1	0	0	0	9566	1087	38	1	670	1	MFSD10	4	2933849	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		2933849	188220427	54	10417											
HTT	3064	genome.wustl.edu	37	chr4	3240679	3240679	+	Frame_Shift_Del	DEL	G	G	-																															tcctgcttctttgtcagcgcGtccaccagcccgtgggtcgc																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:3240679delG	ENST00000355072.5	+	66	9334	c.9189delG	c.(9187-9189)gcgfs	p.A3063fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	3063					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGTCAGCGCGTCCACCAGCC	0.622																																																	0													21	24	23					4																	3240679		2124	4214	6338	SO:0001589	frameshift_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.9189delG	4.37:g.3240679delG	ENSP00000347184:p.Ala3063fs		Q9UQB7	Frame_Shift_Del	DEL	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.S3064fs	ENST00000355072.5	37	c.9189	CCDS43206.1	4																																																																																			HTT	-	NULL	ENSG00000197386		0.622	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0	73	0	G	NM_002111		3240679	1	tier1		no_errors	ENST00000355072	ensembl	human	known	74_37	frame_shift_del	50.94	26	27	DEL	0.030	-	-	3240679	G	-	3240679	7	5	43	1	0	1	0	1	0	0	0	0	7484	1132	40	0	9451	0	HTT	4	3240679	Frame_Shift_Del	DEL	G	TCGA-JY-A93C-01A-11D-A387-09	306830	3240679	187913597	55	10418											
HGFAC	3083	genome.wustl.edu	37	chr4	3443784	3443786	+	In_Frame_Del	DEL	TCC	TCC	-																															cccaccggggctgggcccctTcctcctcctcctcctgctgc																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:3443784_3443786delTCC	ENST00000382774.3	+	1	171_173	c.56_58delTCC	c.(55-60)ttcctc>ttc	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGGGCCCCTTCCTCCTCCTCCT	0.729																																																	0										28,2978		6,16,1481						-2.5	0			13	48,6296		6,36,3130	no	coding	HGFAC	NM_001528.2		12,52,4611	A1A1,A1R,RR		0.7566,0.9315,0.8128				76,9274				SO:0001651	inframe_deletion	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.56_58delTCC	4.37:g.3443793_3443795delTCC	ENSP00000372224:p.Leu29del		Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L23in_frame_del	ENST00000382774.3	37	c.56_58	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.729	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3		0	44	0	TCC			3443786	1	tier1		no_errors	ENST00000382774	ensembl	human	known	74_37	in_frame_del	9.68	28	3	DEL	0.728:0.710:0.712	-	-	3443786	TCC	-	3443784	7	5	43	1	0	1	0	1	0	0	0	0	7113	1783	62	0	58	0	HGFAC	4	3443784	In_Frame_Del	DEL	TCC	TCGA-JY-A93C-01A-11D-A387-09	203105	3443784	187710492	56	10419											
HS3ST1	9957	genome.wustl.edu	37	chr4	11400771	11400771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttggctcatgaaaatattCgtgcagtttattgagtagtt	11	17	9	4	1	1	2	1	2	0	0	2	2	1	2	0	1	1	5	0	1	5	8	rs370389171		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:11400771C>T	ENST00000002596.5	-	2	2033	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	287					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.E287K(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TGAAAATATTCGTGCAGTTTA	0.488																																																	2	Substitution - Missense(2)	large_intestine(2)						C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	81	84	83		859	5.5	0.9	4		83	0,8600		0,0,4300	no	missense	HS3ST1	NM_005114.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	287/308	11400771	1,13005	2203	4300	6503	SO:0001583	missense	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.859G>A	4.37:g.11400771C>T	ENSP00000002596:p.Glu287Lys		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E287K	ENST00000002596.5	37	c.859	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191182	0.09547	2.27E-4	0.0	ENSG00000002587	ENST00000002596	T	0.55930	0.49	5.49	5.49	0.81192	Sulfotransferase domain (1);	0.350601	0.29653	N	0.011541	T	0.31606	0.0802	N	0.03177	-0.4	0.43708	D	0.99617	B	0.14438	0.01	B	0.10450	0.005	T	0.15607	-1.0431	10	0.16896	T	0.51	.	18.3674	0.90396	0.0:1.0:0.0:0.0	.	287	O14792	HS3S1_HUMAN	K	287	ENSP00000002596:E287K	ENSP00000002596:E287K	E	-	1	0	HS3ST1	11009869	0.996000	0.38824	0.918000	0.36340	0.411000	0.31082	2.461000	0.45040	2.571000	0.86741	0.655000	0.94253	GAA	HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.488	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	-	0	76	0	C	NM_005114		11400771	-1	tier1	-	no_errors	ENST00000002596	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.979	T	T	11400771	C	T	11400771	3	4	43	1	0	0	0	0	1	0	0	0	7390	893	31	1	68	1	HS3ST1	4	11400771	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	7956987	11400771	179753505	57	10420											
HS3ST1	9957	genome.wustl.edu	37	chr4	11400857	11400857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtcccggccgctgtccCgcaggcagtaaaagcccttg	7	6	13	15	4	0	0	0	0	0	0	2	0	2	0	4	3	2	4	4	3	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:11400857C>A	ENST00000002596.5	-	2	1947	c.773G>T	c.(772-774)cGg>cTg	p.R258L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	258					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCGCTGTCCCGCAGGCAGTA	0.512																																																	0													45	48	47					4																	11400857		2203	4300	6503	SO:0001583	missense	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.773G>T	4.37:g.11400857C>A	ENSP00000002596:p.Arg258Leu		B3KUA6|Q6PEY8	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R258L	ENST00000002596.5	37	c.773	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846423	0.71603	.	.	ENSG00000002587	ENST00000002596	D	0.82255	-1.59	5.59	5.59	0.84812	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	N	0.25332	0.735	0.80722	D	1	B	0.27700	0.186	B	0.22601	0.04	T	0.69003	-0.5260	10	0.07990	T	0.79	.	18.5875	0.91196	0.0:1.0:0.0:0.0	.	258	O14792	HS3S1_HUMAN	L	258	ENSP00000002596:R258L	ENSP00000002596:R258L	R	-	2	0	HS3ST1	11009955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.628000	0.89032	0.655000	0.94253	CGG	HS3ST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000002587		0.512	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	HGNC	protein_coding	OTTHUMT00000207073.3	-	0	62	0	C	NM_005114		11400857	-1	tier1	-	no_errors	ENST00000002596	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	11400857	C	A	11400857	3	1	43	1	0	0	0	0	1	0	0	0	7390	652	23	2	154	2	HS3ST1	4	11400857	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	86	11400857	179753419	58	10421											
CD38	952	genome.wustl.edu	37	chr4	15818189	15818189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgcatttatttcaaaaCatccttgcaacattactgaa	14	13	6	8	0	1	1	1	1	0	0	2	1	2	1	1	1	5	2	1	1	6	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:15818189C>A	ENST00000226279.3	+	2	426	c.289C>A	c.(289-291)Cat>Aat	p.H97N		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	97					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TATTTCAAAACATCCTTGCAA	0.363																																																	0													89	84	86					4																	15818189		2203	4300	6503	SO:0001583	missense	0			D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"CD molecules"	1667	protein-coding gene	gene with protein product	"ADP-ribosyl cyclase 1", "NAD(+) nucleosidase"	107270	"CD38 antigen (p45)"			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.289C>A	4.37:g.15818189C>A	ENSP00000226279:p.His97Asn		O00121|O00122|Q96HY4	Missense_Mutation	SNP	pfam_ADP-ribosyl_cyclase	p.H97N	ENST00000226279.3	37	c.289	CCDS3417.1	4	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.324265	0.01309	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.12569	2.67	5.57	-5.78	0.02362	.	0.594522	0.18043	N	0.153545	T	0.02571	0.0078	N	0.01209	-0.955	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.29761	-1.0001	10	0.15952	T	0.53	-9.0675	3.2534	0.06823	0.5791:0.2131:0.1173:0.0905	.	97;97	P28907;B2R880	CD38_HUMAN;.	N	97	ENSP00000226279:H97N	ENSP00000226279:H97N	H	+	1	0	CD38	15427287	0.757000	0.28394	0.000000	0.03702	0.043000	0.13939	0.020000	0.13466	-1.789000	0.01264	-2.631000	0.00153	CAT	CD38	-	pfam_ADP-ribosyl_cyclase	ENSG00000004468		0.363	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD38	HGNC	protein_coding	OTTHUMT00000250322.2	-	0	84	0	C	NM_001775		15818189	1	tier1	-	no_errors	ENST00000226279	ensembl	human	known	74_37	missense	30.77	44	20	SNP	0.336	A	A	15818189	C	A	15818189	3	1	43	1	0	0	0	0	1	0	0	0	3016	478	17	3	295	3	CD38	4	15818189	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	4417332	15818189	175336087	59	10422											
ATP10D	57205	genome.wustl.edu	37	chr4	47525174	47525174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcacattgagacttctGgtcttgatggagagagcaat	10	13	11	7	0	4	3	1	2	3	2	4	6	4	4	0	2	1	1	0	2	1	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:47525174G>T	ENST00000273859.3	+	4	900	c.631G>T	c.(631-633)Ggt>Tgt	p.G211C	ATP10D_ENST00000504445.1_Missense_Mutation_p.G211C	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	211					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGAGACTTCTGGTCTTGATGG	0.443																																																	0													117	105	109					4																	47525174		2203	4300	6503	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.631G>T	4.37:g.47525174G>T	ENSP00000273859:p.Gly211Cys		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G211C	ENST00000273859.3	37	c.631	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729046	0.69074	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.77489	-1.1;-1.1	5.74	4.02	0.46733	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.184142	0.48767	D	0.000177	T	0.80088	0.4559	L	0.38838	1.175	0.30865	N	0.733104	D;P	0.69078	0.997;0.886	D;P	0.68353	0.957;0.762	T	0.78610	-0.2137	10	0.72032	D	0.01	-11.3384	8.8601	0.35251	0.2883:0.0:0.7117:0.0	.	211;211	Q9P241;Q6PEW3	AT10D_HUMAN;.	C	211	ENSP00000273859:G211C;ENSP00000420909:G211C	ENSP00000273859:G211C	G	+	1	0	ATP10D	47219931	0.942000	0.31987	0.962000	0.40283	0.990000	0.78478	1.789000	0.38724	0.785000	0.33685	0.484000	0.47621	GGT	ATP10D	-	pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.443	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1		0	117	0	G	NM_020453		47525174	1			no_errors	ENST00000273859	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.998	T	T	47525174	G	T	47525174	3	4	43	1	0	0	0	0	1	0	0	0	1119	1348	47	3	641	3	ATP10D	4	47525174	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	31706985	47525174	143629102	60	10423											
SHROOM3	57619	genome.wustl.edu	37	chr4	77476876	77476876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaggaggcagtttccctgGtgaaaggatcctacaagacc	13	7	12	9	0	0	2	0	1	0	1	2	5	2	4	3	4	1	2	3	4	4	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:77476876G>T	ENST00000296043.6	+	2	1236	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	95	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGTTTCCCTGGTGAAAGGATC	0.587																																																	0													118	103	108					4																	77476876		2203	4300	6503	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.283G>T	4.37:g.77476876G>T	ENSP00000296043:p.Val95Leu		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V95L	ENST00000296043.6	37	c.283	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181984	0.78677	.	.	ENSG00000138771	ENST00000296043	T	0.22336	1.96	4.6	3.74	0.42951	PDZ/DHR/GLGF (4);	1.104210	0.06987	N	0.820867	T	0.18341	0.0440	N	0.13043	0.29	0.31762	N	0.633257	B	0.32467	0.372	B	0.35899	0.213	T	0.31779	-0.9931	10	0.87932	D	0	-16.1098	13.6609	0.62366	0.0:0.1556:0.8443:0.0	.	95	Q8TF72	SHRM3_HUMAN	L	95	ENSP00000296043:V95L	ENSP00000296043:V95L	V	+	1	0	SHROOM3	77695900	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.391000	0.73208	1.204000	0.43247	0.467000	0.42956	GTG	SHROOM3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000138771		0.587	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0	87	0	G	NM_020859		77476876	1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	77476876	G	T	77476876	3	4	43	1	0	0	0	0	1	0	0	0	14340	1261	44	3	289	3	SHROOM3	4	77476876	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	29951702	77476876	113677400	61	10424											
FGF5	2250	genome.wustl.edu	37	chr4	81196110	81196110	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggattgtaggaatacgaGgagttttcagcaacaaattt	14	11	12	4	1	1	0	1	0	0	0	1	4	1	3	0	4	3	3	0	4	5	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:81196110G>T	ENST00000312465.7	+	2	629	c.403G>T	c.(403-405)Gga>Tga	p.G135*	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	135					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGGAATACGAGGAGTTTTCAG	0.338																																																	0													94	96	96					4																	81196110		2203	4300	6503	SO:0001587	stop_gained	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.403G>T	4.37:g.81196110G>T	ENSP00000311697:p.Gly135*		B2R554|O75846|Q3Y8M3|Q8NF90	Nonsense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.G135*	ENST00000312465.7	37	c.403	CCDS34021.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.533899	0.96460	.	.	ENSG00000138675	ENST00000312465	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7147	0.96110	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000311697:G135X	G	+	1	0	FGF5	81415134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.049000	0.93837	2.732000	0.93576	0.591000	0.81541	GGA	FGF5	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000138675		0.338	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	-	0	129	0	G			81196110	1	tier1	-	no_errors	ENST00000312465	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	81196110	G	T	81196110	4	4	43	1	0	0	0	0	0	1	0	0	5877	1001	35	3	409	3	FGF5	4	81196110	Nonsense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3719234	81196110	109958166	62	10425											
SLC39A8	64116	genome.wustl.edu	37	chr4	103228745	103228745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaataatcgtcactgacaGgaatccatatccccaaactg	15	10	5	11	1	1	1	1	1	0	0	4	2	3	2	3	1	1	0	3	1	5	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:103228745G>A	ENST00000394833.2	-	3	876	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Silent_p.L134L|SLC39A8_ENST00000424970.2_Silent_p.L134L	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	134					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		GTCACTGACAGGAATCCATAT	0.378																																																	0													88	96	94					4																	103228745		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.400C>T	4.37:g.103228745G>A			B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Silent	SNP	pfam_ZIP	p.L134	ENST00000394833.2	37	c.400	CCDS3656.1	4																																																																																			SLC39A8	-	pfam_ZIP	ENSG00000138821		0.378	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	-	0	54	0	G	NM_022154		103228745	-1	tier1	-	no_errors	ENST00000356736	ensembl	human	known	74_37	silent	51.43	17	18	SNP	1.000	A	A	103228745	G	A	103228745	2	1	43	1	0	0	0	0	0	0	0	1	14669	991	35	3		3	SLC39A8	4	103228745	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	22032635	103228745	87925531	63	10426											
TLR2	7097	genome.wustl.edu	37	chr4	154625406	154625406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatccagcacacgaatacaCagtgtaacaggctgcattcc	13	9	7	12	1	0	0	0	0	0	0	2	1	2	0	2	1	4	4	2	1	4	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr4:154625406C>T	ENST00000260010.6	+	1	2755	c.1347C>T	c.(1345-1347)caC>caT	p.H449H		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	449					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CACGAATACACAGTGTAACAG	0.348																																																	0													91	93	92					4																	154625406		2203	4300	6503	SO:0001819	synonymous_variant	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1347C>T	4.37:g.154625406C>T			B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.H449	ENST00000260010.6	37	c.1347	CCDS3784.1	4																																																																																			TLR2	-	pirsf_Toll-like_receptor	ENSG00000137462		0.348	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	-	0	46	0	C			154625406	1	tier1	-	no_errors	ENST00000260010	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.000	T	T	154625406	C	T	154625406	2	4	43	1	0	0	0	0	0	0	0	1	15998	477	17	3		3	TLR2	4	154625406	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	51396661	154625406	36528870	64	10427											
RNF180	285671	genome.wustl.edu	37	chr5	63626151	63626151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttactaaagaatatttGaaaataaaacaaagctttca	19	14	3	5	0	2	2	1	1	1	1	2	2	2	2	0	0	3	1	0	0	10	8			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr5:63626151G>T	ENST00000389100.4	+	7	1569	c.1497G>T	c.(1495-1497)ttG>ttT	p.L499F		NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	499					adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AAGAATATTTGAAAATAAAAC	0.318																																																	0													50	44	46					5																	63626151		692	1591	2283	SO:0001583	missense	0			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1497G>T	5.37:g.63626151G>T	ENSP00000373752:p.Leu499Phe		Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L499F	ENST00000389100.4	37	c.1497	CCDS47219.1	5	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521954	0.44866	.	.	ENSG00000164197	ENST00000389100	T	0.50813	0.73	5.5	1.71	0.24356	.	0.341645	0.25117	N	0.033003	T	0.30479	0.0766	N	0.24115	0.695	0.80722	D	1	P	0.39216	0.664	B	0.37304	0.246	T	0.03576	-1.1023	10	0.38643	T	0.18	-6.8279	9.5064	0.39048	0.2833:0.0:0.7167:0.0	.	499	Q86T96	RN180_HUMAN	F	499	ENSP00000373752:L499F	ENSP00000373752:L499F	L	+	3	2	RNF180	63661907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.256000	0.32921	0.291000	0.22468	0.643000	0.83706	TTG	RNF180	-	NULL	ENSG00000164197		0.318	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1	-	0	63	0	G	NM_178532		63626151	1	tier1	-	no_errors	ENST00000389100	ensembl	human	known	74_37	missense	9.62	46	5	SNP	1.000	T	T	63626151	G	T	63626151	3	4	43	1	0	0	0	0	1	0	0	0	13509	1281	45	3	1543	3	RNF180	5	63626151	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		63626151	117289109	65	10428											
PIK3R1	5295	genome.wustl.edu	37	chr5	67591135	67591137	+	In_Frame_Del	DEL	GAG	GAG	-																															cttatccagctgagaaagacGagagaccaatacttgatgta																								rs149090706	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr5:67591135_67591137delGAG	ENST00000521381.1	+	13	2344_2346	c.1728_1730delGAG	c.(1726-1731)acgaga>aca	p.R577del	PIK3R1_ENST00000521657.1_In_Frame_Del_p.R577del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.R214del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.R277del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.R577del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.R577del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.R307del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	577					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.T576del(3)|p.R307K(1)|p.L570_D578del(1)|p.0?(1)|p.?(1)|p.R277K(1)|p.R577_M582>K(1)|p.R577K(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGAGAAAGACGAGAGACCAATAC	0.374			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	10	Substitution - Missense(3)|Deletion - In frame(2)|Deletion - Frameshift(2)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	endometrium(4)|central_nervous_system(3)|large_intestine(1)|lung(1)|ovary(1)																																								SO:0001651	inframe_deletion	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1728_1730delGAG	5.37:g.67591135_67591137delGAG	ENSP00000428056:p.Arg577del		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.R577in_frame_del	ENST00000521381.1	37	c.1728_1730	CCDS3993.1	5																																																																																			PIK3R1	-	prints_PI3kinase_P85	ENSG00000145675		0.374	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2		0	95	0	GAG	NM_181504		67591137	1	tier1		no_errors	ENST00000396611	ensembl	human	known	74_37	in_frame_del	31.82	30	14	DEL	0.016:0.975:1.000	-	-	67591137	GAG	-	67591135	7	5	43	1	0	1	0	1	0	0	0	0	11957	1045	37	0	1904	0	PIK3R1	5	67591135	In_Frame_Del	DEL	GAG	TCGA-JY-A93C-01A-11D-A387-09	3964984	67591135	113324125	66	10429											
FAM172A	83989	genome.wustl.edu	37	chr5	93410402	93410402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctccctgctggatttGtgccatgtttatccaaattg	7	15	9	10	0	0	0	0	0	0	0	2	2	2	2	4	2	2	2	4	2	2	4	rs143516571		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr5:93410402G>T	ENST00000395965.3	-	2	197	c.55C>A	c.(55-57)Caa>Aaa	p.Q19K	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509739.1_5'UTR	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	19						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)		p.Q19E(1)		endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGCTGGATTTGTGCCATGTTT	0.343																																																	1	Substitution - Missense(1)	lung(1)						G	,,LYS/GLN	1,4405	2.1+/-5.4	0,1,2202	129	118	122		,,55	5.9	1	5	dbSNP_134	122	0,8600		0,0,4300	no	intron,intron,missense	FAM172A	NM_001163417.1,NM_001163418.1,NM_032042.5	,,53	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,,possibly-damaging	,,19/417	93410402	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.55C>A	5.37:g.93410402G>T	ENSP00000379294:p.Gln19Lys		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.Q19K	ENST00000395965.3	37	c.55	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425971	0.83667	2.27E-4	0.0	ENSG00000113391	ENST00000395965	T	0.45276	0.9	5.87	5.87	0.94306	.	0.283030	0.39985	N	0.001202	T	0.38957	0.1060	L	0.54323	1.7	0.80722	D	1	B;B	0.29037	0.231;0.058	B;B	0.24701	0.054;0.055	T	0.15407	-1.0438	10	0.15952	T	0.53	-1.5904	17.1159	0.86688	0.0:0.0:1.0:0.0	.	19;19	Q8WUF8;Q8WUF8-2	F172A_HUMAN;.	K	19	ENSP00000379294:Q19K	ENSP00000379294:Q19K	Q	-	1	0	FAM172A	93436158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.177000	0.58276	2.775000	0.95449	0.650000	0.86243	CAA	FAM172A	-	NULL	ENSG00000113391		0.343	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3		0	69	0	G	NM_032042		93410402	-1			no_errors	ENST00000395965	ensembl	human	known	74_37	missense	5.13	36	2	SNP	1.000	T	T	93410402	G	T	93410402	3	4	43	1	0	0	0	0	1	0	0	0	5511	1386	48	3	1235	3	FAM172A	5	93410402	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	25819267	93410402	87504858	67	10430											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101834432	101834432	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgggcttcgaggacttCggggttcccttggccctcct	2	12	12	15	3	0	0	0	0	0	0	5	2	3	1	4	5	0	2	4	5	0	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr5:101834432C>A	ENST00000506729.1	-	1	288	c.117G>T	c.(115-117)ccG>ccT	p.P39P	SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000513675.1_Silent_p.P39P|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379807.3_Silent_p.P39P|SLCO6A1_ENST00000389019.3_Silent_p.P39P|SLCO6A1_ENST00000379810.1_Silent_p.P39P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCGAGGACTTCGGGGTTCCCT	0.592																																																	0													117	133	128					5																	101834432		2203	4300	6503	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.117G>T	5.37:g.101834432C>A			A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.P39	ENST00000506729.1	37	c.117	CCDS34206.1	5																																																																																			SLCO6A1	-	NULL	ENSG00000205359		0.592	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	-	0	66	0	C	NM_173488		101834432	-1	tier1	-	no_errors	ENST00000379807	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.000	A	A	101834432	C	A	101834432	2	1	43	1	0	0	0	0	0	0	0	1	14777	871	31	2		2	SLCO6A1	5	101834432	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	8424030	101834432	79080828	68	10431											
MGC29506	51237	genome.wustl.edu	37	chr5	138725510	138725512	+	In_Frame_Del	DEL	CAG	CAG	-																															cctgggatggcccaggctccCagcagcagcagcagcagtgg																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr5:138725510_138725512delCAG	ENST00000302125.8	-	1	91_93	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	MZB1_ENST00000457570.2_In_Frame_Del_p.L12del|MZB1_ENST00000412103.2_5'UTR	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	12					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											CCCAGGCTCCcagcagcagcagc	0.626																																																	0										3,22,3657		0,0,3,3,16,1819						1.3	0.7			37	1,48,7121		0,0,1,6,36,3542	no	codingComplex	MZB1	NM_016459.3		0,0,4,9,52,5361	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6834,0.679,0.6819				4,70,10778				SO:0001651	inframe_deletion	0			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"plasma cell-induced ER protein 1", "proapoptotic caspase adaptor protein", "mesenteric oestrogen-dependent adipose gene- 7"	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.34_36delCTG	5.37:g.138725519_138725521delCAG	ENSP00000303920:p.Leu12del		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	In_Frame_Del	DEL	NULL	p.L12in_frame_del	ENST00000302125.8	37	c.36_34	CCDS47273.1	5																																																																																			MZB1	-	NULL	ENSG00000170476		0.626	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1		0	26	0	CAG	NM_016459		138725512	-1	tier1		no_errors	ENST00000503481	ensembl	human	known	74_37	in_frame_del	9.68	28	3	DEL	0.366:0.352:0.265	-	-	138725512	CAG	-	138725510	7	5	43	1	0	1	0	1	0	0	0	0	9589	581	21	0	549	0	MGC29506	5	138725510	In_Frame_Del	DEL	CAG	TCGA-JY-A93C-01A-11D-A387-09	36891078	138725510	42189750	69	10432											
PCDH1	5097	genome.wustl.edu	37	chr5	141244972	141244972	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttctgcattggcaccttgGtctgagtcattggccttcac	6	15	9	11	0	4	1	2	1	2	0	4	1	4	1	2	3	1	2	2	3	0	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr5:141244972G>A	ENST00000394536.3	-	3	1063	c.924C>T	c.(922-924)gaC>gaT	p.D308D	PCDH1_ENST00000287008.3_Silent_p.D308D|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Silent_p.D296D|PCDH1_ENST00000536585.1_Silent_p.D286D	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCACCTTGGTCTGAGTCAT	0.493																																					Ovarian(132;1609 1739 4190 14731 45037)												0													91	94	93					5																	141244972		2182	4279	6461	SO:0001819	synonymous_variant	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.924C>T	5.37:g.141244972G>A			Q8IUP2	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D308	ENST00000394536.3	37	c.924	CCDS43375.1	5																																																																																			PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000156453		0.493	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	-	0	39	0	G	NM_032420		141244972	-1	tier1	-	no_errors	ENST00000287008	ensembl	human	known	74_37	silent	28.12	23	9	SNP	1.000	A	A	141244972	G	A	141244972	2	1	43	1	0	0	0	0	0	0	0	1	11545	1252	44	3		3	PCDH1	5	141244972	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	2519462	141244972	39670288	70	10433											
KIAA0141	9812	genome.wustl.edu	37	chr5	141309193	141309193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgatggcccagctcccagGcacactggcctcagggaacc	8	4	11	18	1	1	0	1	0	0	0	2	2	2	1	5	4	2	2	5	4	1	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr5:141309193G>A	ENST00000432126.2	+	5	593	c.459G>A	c.(457-459)agG>agA	p.R153R	KIAA0141_ENST00000194118.4_Silent_p.R153R	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	153					extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	mitochondrion (GO:0005739)				endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTCCCAGGCACACTGGCC	0.622																																																	0													66	67	67					5																	141309193		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011269	CCDS4268.1	5q31	2011-05-05			ENSG00000081791	ENSG00000081791			28969	protein-coding gene	gene with protein product	"death ligand signal enhancer"	615741				20563667	Standard	XM_005268549		Approved	DELE	uc003llt.3	Q14154	OTTHUMG00000129662	ENST00000432126.2:c.459G>A	5.37:g.141309193G>A			Q969R4|Q96EU9	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.R153	ENST00000432126.2	37	c.459	CCDS4268.1	5																																																																																			KIAA0141	-	NULL	ENSG00000081791		0.622	KIAA0141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0141	HGNC	protein_coding	OTTHUMT00000251863.2		0	47	0	G	NM_014773		141309193	1			no_errors	ENST00000194118	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.034	A	A	141309193	G	A	141309193	2	1	43	1	0	0	0	0	0	0	0	1	8183	1194	42	3		3	KIAA0141	5	141309193	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	64221	141309193	39606067	71	10434											
TFAP2D	83741	genome.wustl.edu	37	chr6	50696969	50696969	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggataggcttggcttaaactTaccagcaggaagacggaaag	14	7	13	7	1	0	1	0	0	0	1	0	4	0	4	1	5	3	3	1	5	6	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:50696969T>A	ENST00000008391.3	+	5	1055	c.827T>A	c.(826-828)tTa>tAa	p.L276*	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCTTAAACTTACCAGCAGGA	0.418																																																	0													158	139	146					6																	50696969		2203	4300	6503	SO:0001587	stop_gained	0			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.827T>A	6.37:g.50696969T>A	ENSP00000008391:p.Leu276*			Nonsense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.L276*	ENST00000008391.3	37	c.827	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	T	39	7.736785	0.98462	.	.	ENSG00000008197	ENST00000008391	.	.	.	6.08	4.9	0.64082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5664	13.4399	0.61106	0.0:0.0:0.1309:0.8691	.	.	.	.	X	276	.	ENSP00000008391:L276X	L	+	2	0	TFAP2D	50804928	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.040000	0.89188	1.087000	0.41251	0.482000	0.46254	TTA	TFAP2D	-	pfam_TF_AP2_C,prints_TF_AP2_C	ENSG00000008197		0.418	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	-	0	61	0	T	NM_172238		50696969	1	tier1	-	no_errors	ENST00000008391	ensembl	human	known	74_37	nonsense	75.76	8	25	SNP	1.000	A	A	50696969	T	A	50696969	4	1	43	1	0	0	0	0	0	1	0	0	15837	1764	61	5	845	5	TFAP2D	6	50696969	Nonsense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09		50696969	120418098	72	10435											
C6orf182	285753	genome.wustl.edu	37	chr6	109468002	109468002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttcaggaaaaaattcatCgtttagagctggagagaaca	15	10	9	7	1	3	2	2	0	1	2	4	5	3	4	0	2	2	2	0	2	5	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:109468002C>T	ENST00000517392.1	+	3	628	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	CEP57L1_ENST00000359793.3_Missense_Mutation_p.R68C|CEP57L1_ENST00000368968.2_Missense_Mutation_p.R68C|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000368970.2_Missense_Mutation_p.R68C|CEP57L1_ENST00000519095.1_Missense_Mutation_p.R68C|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R71C|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000407272.1_Missense_Mutation_p.R68C|CEP57L1_ENST00000521277.1_Missense_Mutation_p.R68C|CEP57L1_ENST00000521522.1_Missense_Mutation_p.R68C	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	68					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAAAATTCATCGTTTAGAGCT	0.333																																																	0																																										SO:0001583	missense	0			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.202C>T	6.37:g.109468002C>T	ENSP00000427844:p.Arg68Cys		G5E992	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.R68C	ENST00000517392.1	37	c.202	CCDS5071.1	6	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892139	0.52014	.	.	ENSG00000183137	ENST00000521277;ENST00000517392;ENST00000407272;ENST00000540778;ENST00000519286;ENST00000518853;ENST00000521522;ENST00000524064;ENST00000522608;ENST00000521503;ENST00000519095;ENST00000368968;ENST00000368970;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.05	5.05	0.67936	.	0.227351	0.45126	D	0.000397	T	0.61615	0.2361	L	0.54323	1.7	0.52501	D	0.999953	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	P;D;D;D	0.74348	0.888;0.935;0.983;0.98	T	0.64571	-0.6376	10	0.59425	D	0.04	-6.3167	16.5933	0.84781	0.0:1.0:0.0:0.0	.	68;68;68;68	Q8IYX8;G5E992;Q6P2R3;E5RJH1	CE57L_HUMAN;.;.;.	C	68;68;68;68;68;68;68;68;68;68;68;68;68;71;68	ENSP00000430558:R68C;ENSP00000427844:R68C;ENSP00000383936:R68C;ENSP00000429812:R68C;ENSP00000430265:R68C;ENSP00000428344:R68C;ENSP00000427771:R68C;ENSP00000428464:R68C;ENSP00000431113:R68C;ENSP00000430911:R68C;ENSP00000357964:R68C;ENSP00000357966:R68C;ENSP00000430529:R71C;ENSP00000352841:R68C	ENSP00000352841:R68C	R	+	1	0	CEP57L1	109574695	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	2.224000	0.42945	2.340000	0.79590	0.467000	0.42956	CGT	CEP57L1	-	NULL	ENSG00000183137		0.333	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	CEP57L1	HGNC	protein_coding	OTTHUMT00000041734.4	-	0	71	0	C	NM_173830		109468002	1	tier1	-	no_errors	ENST00000359793	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.998	T	T	109468002	C	T	109468002	3	4	43	1	0	0	0	0	1	0	0	0	2353	884	31	1	208	1	C6orf182	6	109468002	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	58771033	109468002	61647065	73	10436											
VGLL2	245806	genome.wustl.edu	37	chr6	117591852	117591852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgacccctactcgcccGccgcgctgcatggccacctg	4	5	10	22	6	0	0	0	0	0	0	1	1	0	0	8	1	2	2	8	1	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:117591852G>A	ENST00000326274.5	+	3	728	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	VGLL2_ENST00000352536.3_Intron	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	180					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CTACTCGCCCGCCGCGCTGCA	0.771																																																	0													3	4	3					6																	117591852		1635	3321	4956	SO:0001583	missense	0			AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.538G>A	6.37:g.117591852G>A	ENSP00000320957:p.Ala180Thr		Q8WWX1	Missense_Mutation	SNP	pfam_Vg_Tdu	p.A180T	ENST00000326274.5	37	c.538	CCDS5115.1	6	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813837	0.32053	.	.	ENSG00000170162	ENST00000326274	T	0.46063	0.88	4.76	3.87	0.44632	.	0.247775	0.39544	N	0.001329	T	0.17066	0.0410	L	0.54323	1.7	0.40758	D	0.982972	B	0.19583	0.037	B	0.09377	0.004	T	0.05818	-1.0862	10	0.16420	T	0.52	-16.8591	9.4368	0.38643	0.0776:0.0:0.7795:0.1429	.	180	Q8N8G2	VGLL2_HUMAN	T	180	ENSP00000320957:A180T	ENSP00000320957:A180T	A	+	1	0	VGLL2	117698545	0.529000	0.26322	0.053000	0.19242	0.081000	0.17604	2.212000	0.42835	0.952000	0.37798	0.549000	0.68633	GCC	VGLL2	-	NULL	ENSG00000170162		0.771	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL2	HGNC	protein_coding	OTTHUMT00000041975.2	-	0	12	0	G	NM_153453		117591852	1	tier1	-	no_errors	ENST00000326274	ensembl	human	known	74_37	missense	40.00	6	4	SNP	0.989	A	A	117591852	G	A	117591852	3	1	43	1	0	0	0	0	1	0	0	0	17208	1087	38	1	548	1	VGLL2	6	117591852	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	8123850	117591852	53523215	74	10437											
DCBLD1	285761	genome.wustl.edu	37	chr6	117859866	117859866	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcaatgagagtggagacCaagttcactggtctcctggc	9	9	13	10	1	3	2	2	1	1	2	4	4	3	2	2	4	0	1	2	4	2	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:117859866C>T	ENST00000338728.5	+	8	964	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	DCBLD1_ENST00000296955.8_Nonsense_Mutation_p.Q282*|DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	282	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GAGTGGAGACCAAGTTCACTG	0.537																																																	0													74	73	73					6																	117859866		2203	4300	6503	SO:0001587	stop_gained	0			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.844C>T	6.37:g.117859866C>T	ENSP00000342422:p.Gln282*		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Nonsense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.Q282*	ENST00000338728.5	37	c.844		6	.	.	.	.	.	.	.	.	.	.	C	36	5.903296	0.97087	.	.	ENSG00000164465	ENST00000296955;ENST00000338728	.	.	.	4.06	3.15	0.36227	.	0.785305	0.11513	N	0.556505	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-5.6245	8.3176	0.32111	0.0:0.6613:0.2416:0.0971	.	.	.	.	X	282	.	ENSP00000296955:Q282X	Q	+	1	0	DCBLD1	117966559	0.000000	0.05858	0.004000	0.12327	0.941000	0.58515	0.154000	0.16343	2.102000	0.63906	0.462000	0.41574	CAA	DCBLD1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164465		0.537	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	DCBLD1	HGNC	protein_coding	OTTHUMT00000041979.2	-	0	58	0	C	NM_173674		117859866	1	tier1	-	no_errors	ENST00000338728	ensembl	human	known	74_37	nonsense	41.03	23	16	SNP	0.001	T	T	117859866	C	T	117859866	4	4	43	1	0	0	0	0	0	1	0	0	4289	595	21	3	874	3	DCBLD1	6	117859866	Nonsense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	268014	117859866	53255201	75	10438											
HIVEP2	3097	genome.wustl.edu	37	chr6	143095613	143095613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgagtaaggactcggaCgatgcggtggatattgcttc	9	10	15	7	3	0	1	0	1	0	0	2	5	0	4	0	5	2	3	0	5	2	4	rs569905766	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:143095613C>T	ENST00000367604.1	-	4	902	c.263G>A	c.(262-264)cGt>cAt	p.R88H	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R88H|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R88H			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGACTCGGACGATGCGGTGG	0.537													C|||	3	0.000599042	0	0.0014	5008	,	,		21291	0		0	False		,,,				2504	0.002				Esophageal Squamous(107;843 1510 13293 16805 42198)												0													163	171	168					6																	143095613		2157	4261	6418	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.263G>A	6.37:g.143095613C>T	ENSP00000356576:p.Arg88His		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R88H	ENST00000367604.1	37	c.263	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735156	0.48939	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02631	4.22;4.22;4.22	5.53	3.75	0.43078	.	0.332847	0.36972	N	0.002316	T	0.01387	0.0045	M	0.62723	1.935	0.31251	N	0.694022	B	0.09022	0.002	B	0.04013	0.001	T	0.40384	-0.9566	10	0.44086	T	0.13	-0.1773	7.5081	0.27558	0.1352:0.7219:0.0:0.1429	.	88	P31629	ZEP2_HUMAN	H	88	ENSP00000356576:R88H;ENSP00000356575:R88H;ENSP00000012134:R88H	ENSP00000012134:R88H	R	-	2	0	HIVEP2	143137306	0.889000	0.30405	0.830000	0.32933	0.994000	0.84299	1.167000	0.31847	0.697000	0.31718	0.650000	0.86243	CGT	HIVEP2	-	NULL	ENSG00000010818		0.537	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0	71	0	C			143095613	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	20.90	53	14	SNP	0.993	T	T	143095613	C	T	143095613	3	4	43	1	0	0	0	0	1	0	0	0	7214	536	19	1	7101	1	HIVEP2	6	143095613	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	25235747	143095613	28019454	76	10439											
SYNE1	23345	genome.wustl.edu	37	chr6	152712457	152712457	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtctttgctcccaagAgtgctctctgcacaggccag	7	10	12	12	0	2	1	0	0	2	1	4	1	3	1	2	2	3	3	2	2	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:152712457A>C	ENST00000367255.5	-	52	8560	c.7959T>G	c.(7957-7959)acT>acG	p.T2653T	SYNE1_ENST00000448038.1_Silent_p.T2660T|SYNE1_ENST00000341594.5_Silent_p.T2692T|SYNE1_ENST00000265368.4_Silent_p.T2653T|SYNE1_ENST00000423061.1_Silent_p.T2660T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2653					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTCCCAAGAGTGCTCTCTG	0.527										HNSCC(10;0.0054)																																							0													105	100	101					6																	152712457		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.7959T>G	6.37:g.152712457A>C			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.T2653	ENST00000367255.5	37	c.7959	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.527	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	65	0	A	NM_182961		152712457	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	10.17	53	6	SNP	0.000	C	C	152712457	A	C	152712457	2	2	43	1	0	0	0	0	0	0	0	1	15492	291	11	4		4	SYNE1	6	152712457	Silent	SNP	A	TCGA-JY-A93C-01A-11D-A387-09	9616844	152712457	18402610	77	10440											
SLC22A2	6582	genome.wustl.edu	37	chr6	160664750	160664750	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagagtagaagaaatccAggtagatattgtcacctgca	14	8	12	7	0	1	4	1	0	0	4	2	4	2	4	2	2	1	4	2	2	5	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:160664750A>T	ENST00000366953.3	-	7	1391	c.1133T>A	c.(1132-1134)cTg>cAg	p.L378Q	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	378					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GAAGAAATCCAGGTAGATATT	0.522																																																	0													108	98	101					6																	160664750		2203	4300	6503	SO:0001583	missense	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1133T>A	6.37:g.160664750A>T	ENSP00000355920:p.Leu378Gln		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L378Q	ENST00000366953.3	37	c.1133	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	A	26.8	4.769365	0.90020	.	.	ENSG00000112499	ENST00000366953	T	0.63913	-0.07	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.169796	0.41396	D	0.000894	D	0.82935	0.5145	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.993	D	0.87821	0.2638	10	0.56958	D	0.05	.	15.5001	0.75691	1.0:0.0:0.0:0.0	.	378;378	O15244;O15244-2	S22A2_HUMAN;.	Q	378	ENSP00000355920:L378Q	ENSP00000355920:L378Q	L	-	2	0	SLC22A2	160584740	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.028000	0.93712	2.250000	0.74265	0.533000	0.62120	CTG	SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.522	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	-	0	65	0	A	NM_003058		160664750	-1	tier1	-	no_errors	ENST00000366953	ensembl	human	known	74_37	missense	61.22	19	30	SNP	0.992	T	T	160664750	A	T	160664750	3	4	43	1	0	0	0	0	1	0	0	0	14495	188	7	5	554	5	SLC22A2	6	160664750	Missense_Mutation	SNP	A	TCGA-JY-A93C-01A-11D-A387-09	7952293	160664750	10450317	78	10441											
GPR31	2853	genome.wustl.edu	37	chr6	167570380	167570380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaggaataggagtctctggGgttgaaatctgggggctctg	8	11	16	6	0	4	1	1	1	3	0	5	3	4	3	0	6	0	2	0	6	3	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:167570380G>T	ENST00000366834.1	-	1	1437	c.940C>A	c.(940-942)Ccc>Acc	p.P314T		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	314					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GAGTCTCTGGGGTTGAAATCT	0.537																																																	0													51	56	54					6																	167570380		2203	4300	6503	SO:0001583	missense	0			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"GPCR / Class A : Orphans"	4486	protein-coding gene	gene with protein product	"hydroxyeicosatetraenoic (HETE) acid receptor 1", "12-(S)-HETE acid receptor"	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.940C>A	6.37:g.167570380G>T	ENSP00000355799:p.Pro314Thr		B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P314T	ENST00000366834.1	37	c.940	CCDS5299.1	6	.	.	.	.	.	.	.	.	.	.	G	7.535	0.659485	0.14645	.	.	ENSG00000120436	ENST00000366834	T	0.60299	0.2	3.31	1.44	0.22558	.	0.595988	0.12710	U	0.445586	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.25779	-1.0122	10	0.31617	T	0.26	-8.7701	3.7756	0.08659	0.1342:0.0:0.607:0.2588	.	314	O00270	GPR31_HUMAN	T	314	ENSP00000355799:P314T	ENSP00000355799:P314T	P	-	1	0	GPR31	167490370	0.005000	0.15991	0.002000	0.10522	0.033000	0.12548	1.411000	0.34702	0.108000	0.17862	0.313000	0.20887	CCC	GPR31	-	NULL	ENSG00000120436		0.537	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	HGNC	protein_coding	OTTHUMT00000043111.1		0	62	0	G	NM_005299		167570380	-1			no_errors	ENST00000366834	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.006	T	T	167570380	G	T	167570380	3	4	43	1	0	0	0	0	1	0	0	0	6713	1232	43	3	22	3	GPR31	6	167570380	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	6905630	167570380	3544687	79	10442											
SMOC2	64094	genome.wustl.edu	37	chr6	168999587	168999587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatccctgagtgtgcgcacGgcggcctctacaagccagtg	7	8	13	13	3	1	2	0	2	1	0	2	2	2	2	3	2	3	1	3	2	2	1	rs551280549		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr6:168999587G>A	ENST00000356284.2	+	8	947	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	SMOC2_ENST00000354536.5_Missense_Mutation_p.G254S	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	243	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GTGTGCGCACGGCGGCCTCTA	0.632													G|||	1	0.000199681	8e-04	0	5008	,	,		14338	0		0	False		,,,				2504	0																0													105	75	85					6																	168999587		2203	4299	6502	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.727G>A	6.37:g.168999587G>A	ENSP00000348630:p.Gly243Ser		B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1	p.G254S	ENST00000356284.2	37	c.760	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996107	0.93167	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.62364	0.03;0.03	4.89	4.89	0.63831	Thyroglobulin type-1 (5);EF-hand-like domain (1);	0.245514	0.35525	N	0.003145	T	0.53029	0.1771	N	0.12887	0.27	0.48830	D	0.999716	D;D	0.71674	0.998;0.998	P;P	0.61070	0.883;0.8	T	0.64330	-0.6433	10	0.59425	D	0.04	-6.6303	17.1175	0.86694	0.0:0.0:1.0:0.0	.	243;254	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	S	243;254;243	ENSP00000348630:G243S;ENSP00000346537:G254S	ENSP00000346537:G254S	G	+	1	0	SMOC2	168741512	1.000000	0.71417	0.188000	0.23233	0.919000	0.55068	8.993000	0.93524	2.268000	0.75426	0.386000	0.25728	GGC	SMOC2	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000112562		0.632	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	-	0	52	0	G			168999587	1	tier1	-	no_errors	ENST00000354536	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.980	A	A	168999587	G	A	168999587	3	1	43	1	0	0	0	0	1	0	0	0	14847	1116	39	1	790	1	SMOC2	6	168999587	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1429207	168999587	2115480	80	10443											
SDK1	221935	genome.wustl.edu	37	chr7	4218194	4218194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcccagccagcgcgcccGtggaggtctttgtcggcgag	6	6	16	13	5	1	1	0	0	1	1	2	3	1	2	3	3	3	0	3	3	0	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:4218194G>A	ENST00000404826.2	+	35	5213	c.5074G>A	c.(5074-5076)Gtg>Atg	p.V1692M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1672M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1692	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1692M(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCGCGCCCGTGGAGGTCTT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											74	83	80					7																	4218194		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5074G>A	7.37:g.4218194G>A	ENSP00000385899:p.Val1692Met		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1692M	ENST00000404826.2	37	c.5074	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461279	0.63513	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57752	0.38;0.38	5.09	5.09	0.68999	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.71476	0.3344	M	0.80183	2.485	0.38647	D	0.951745	D;D;D	0.76494	0.978;0.992;0.999	P;P;D	0.63113	0.738;0.557;0.911	T	0.74028	-0.3796	10	0.36615	T	0.2	.	17.0409	0.86489	0.0:0.0:1.0:0.0	.	1672;179;1692	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	M	1692;1672	ENSP00000385899:V1692M;ENSP00000374182:V1672M	ENSP00000374182:V1672M	V	+	1	0	SDK1	4184720	1.000000	0.71417	0.901000	0.35422	0.370000	0.29829	5.763000	0.68818	2.525000	0.85131	0.655000	0.94253	GTG	SDK1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	53	0	G	NM_152744		4218194	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.986	A	A	4218194	G	A	4218194	3	1	43	1	0	0	0	0	1	0	0	0	14013	1145	40	1	5212	1	SDK1	7	4218194	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		4218194	154920469	81	10444											
C7orf42	55069	genome.wustl.edu	37	chr7	66415976	66415976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgacacgtacagcaacGccacgctctggtacaagatc	11	8	8	14	3	1	2	0	1	1	1	3	2	2	2	2	1	4	4	2	1	4	3	rs555146247		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:66415976G>T	ENST00000341567.4	+	5	889	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	212						integral component of membrane (GO:0016021)											GTACAGCAACGCCACGCTCTG	0.507																																																	0													222	191	201					7																	66415976		2203	4300	6503	SO:0001583	missense	0				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 42"	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.634G>T	7.37:g.66415976G>T	ENSP00000340668:p.Ala212Ser		Q53H07|Q96FR2	Missense_Mutation	SNP	NULL	p.A212S	ENST00000341567.4	37	c.634	CCDS5536.1	7	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149910	0.78001	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.32530	0.975	0.80722	D	1	B	0.33583	0.418	B	0.30855	0.121	T	0.45071	-0.9286	9	0.41790	T	0.15	0.1593	19.5705	0.95413	0.0:0.0:1.0:0.0	.	212	Q9NWD8	CG042_HUMAN	S	212	.	ENSP00000340668:A212S	A	+	1	0	C7orf42	66053411	1.000000	0.71417	0.980000	0.43619	0.780000	0.44128	9.339000	0.96797	2.941000	0.99782	0.655000	0.94253	GCC	TMEM248	-	NULL	ENSG00000106609		0.507	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM248	HGNC	protein_coding	OTTHUMT00000251745.2		0	76	0	G	NM_017994		66415976	1			no_errors	ENST00000341567	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	66415976	G	T	66415976	3	4	43	1	0	0	0	0	1	0	0	0	2399	1087	38	2	648	2	C7orf42	7	66415976	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	62197782	66415976	92722687	82	10445											
RHBDD2	57414	genome.wustl.edu	37	chr7	75511280	75511280	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccactgcttcttcaccgtGatcttcgccatcttctccgc	4	13	6	18	4	5	1	1	1	4	0	7	1	5	1	4	0	1	1	4	0	0	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:75511280G>T	ENST00000006777.6	+	2	447	c.312G>T	c.(310-312)gtG>gtT	p.V104V	RHBDD2_ENST00000428119.1_5'Flank|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	104						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TCTTCACCGTGATCTTCGCCA	0.557																																																	0													155	167	163					7																	75511280		2149	4254	6403	SO:0001819	synonymous_variant	0			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"rhomboid, veinlet-like 7 (Drosophila)"	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.312G>T	7.37:g.75511280G>T			Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Silent	SNP	pfam_Peptidase_S54_rhomboid_dom	p.V104	ENST00000006777.6	37	c.312	CCDS43602.1	7																																																																																			RHBDD2	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000005486		0.557	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	HGNC	protein_coding	OTTHUMT00000344176.1		0	90	0	G	NM_020684		75511280	1			no_errors	ENST00000006777	ensembl	human	known	74_37	silent	6.49	72	5	SNP	0.012	T	T	75511280	G	T	75511280	2	4	43	1	0	0	0	0	0	0	0	1	13362	1277	45	3		3	RHBDD2	7	75511280	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	9095304	75511280	83627383	83	10446											
C7orf51	222950	genome.wustl.edu	37	chr7	100084522	100084522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtccgcgtgcgggacatCgcctcgctgcggcgctccct	2	7	16	16	7	0	0	0	0	0	0	4	1	2	1	3	4	2	2	3	4	0	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:100084522C>T	ENST00000300179.2	+	3	306	c.147C>T	c.(145-147)atC>atT	p.I49I	NYAP1_ENST00000454988.1_5'Flank|NYAP1_ENST00000423930.1_Silent_p.I49I	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	49					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGCGGGACATCGCCTCGCTGC	0.741																																																	0													5	6	6					7																	100084522		2062	4108	6170	SO:0001819	synonymous_variant	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"chromosome 7 open reading frame 51", "KIAA1486-like"	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.147C>T	7.37:g.100084522C>T			Q6U9Y3|Q8N1V0	Silent	SNP	NULL	p.I49	ENST00000300179.2	37	c.147	CCDS5696.1	7																																																																																			NYAP1	-	NULL	ENSG00000166924		0.741	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	-	0	23	0	C	NM_173564		100084522	1	tier1	-	no_errors	ENST00000423930	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.997	T	T	100084522	C	T	100084522	2	4	43	1	0	0	0	0	0	0	0	1	2407	874	31	1		1	C7orf51	7	100084522	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	24573242	100084522	59054141	84	10447											
TFR2	7036	genome.wustl.edu	37	chr7	100238328	100238328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatggtgtcctccaggcGcccctcccccaggaactgca	6	7	10	18	1	0	1	0	1	0	0	3	2	3	2	7	3	2	1	7	3	1	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:100238328G>A	ENST00000462107.1	-	4	741	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	TFR2_ENST00000223051.3_Missense_Mutation_p.R152C|TFR2_ENST00000431692.1_Missense_Mutation_p.R152C			Q9UP52	TFR2_HUMAN	transferrin receptor 2	152					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TCCTCCAGGCGCCCCTCCCCC	0.632																																																	0													38	38	38					7																	100238328		2203	4300	6503	SO:0001583	missense	0			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.454C>T	7.37:g.100238328G>A	ENSP00000420525:p.Arg152Cys		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.R152C	ENST00000462107.1	37	c.454	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	g	7.920	0.738287	0.15574	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.56103	0.75;0.48;0.75	4.47	-4.93	0.03066	.	1.493030	0.03793	N	0.263147	T	0.32194	0.0821	L	0.27053	0.805	0.09310	N	1	D	0.56035	0.974	B	0.37422	0.249	T	0.43766	-0.9371	10	0.66056	D	0.02	0.9589	4.6707	0.12687	0.4844:0.0:0.2401:0.2755	.	152	Q9UP52	TFR2_HUMAN	C	152	ENSP00000223051:R152C;ENSP00000413905:R152C;ENSP00000420525:R152C	ENSP00000223051:R152C	R	-	1	0	TFR2	100076264	0.000000	0.05858	0.000000	0.03702	0.372000	0.29890	-0.339000	0.07832	-1.322000	0.02278	-4.333000	0.00007	CGC	TFR2	-	NULL	ENSG00000106327		0.632	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3		0	45	0	G	NM_003227		100238328	-1			no_errors	ENST00000223051	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.001	A	A	100238328	G	A	100238328	3	1	43	1	0	0	0	0	1	0	0	0	15858	1087	38	1	2015	1	TFR2	7	100238328	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	153806	100238328	58900335	85	10448											
CUX1	1523	genome.wustl.edu	37	chr7	101916646	101916646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggccacaggacgctgtgCagagctgcaagtccgtatca	9	9	12	11	2	1	1	1	0	0	1	2	2	2	2	2	2	3	5	2	2	2	2	rs62001055	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:101916646C>T	ENST00000437600.4	+	15	1611	c.1259C>T	c.(1258-1260)gCa>gTa	p.A420V	CUX1_ENST00000393824.3_Missense_Mutation_p.A383V|CUX1_ENST00000547394.2_Missense_Mutation_p.A406V|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.A376V|CUX1_ENST00000292538.4_Missense_Mutation_p.A422V	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	0					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGACGCTGTGCAGAGCTGCAA	0.622																																																	0													42	36	38					7																	101916646		2203	4300	6503	SO:0001583	missense	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000437600.4:c.1259C>T	7.37:g.101916646C>T	ENSP00000414091:p.Ala420Val		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_CASP_C,superfamily_LemA-like_dom	p.A422V	ENST00000437600.4	37	c.1265	CCDS47672.1	7	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905288	0.52333	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.75	4.75	0.60458	CASP, C-terminal (1);	.	.	.	.	T	0.50326	0.1609	M	0.78637	2.42	0.23809	N	0.996781	P;D;B;P;P	0.54964	0.473;0.969;0.317;0.617;0.533	B;P;B;B;B	0.55667	0.138;0.781;0.108;0.242;0.25	T	0.45687	-0.9244	9	0.30078	T	0.28	.	15.921	0.79575	0.0:1.0:0.0:0.0	.	383;376;406;420;422	B4DZZ2;B3KV79;G3V1Z6;Q13948-2;Q13948	.;.;.;.;CASP_HUMAN	V	422;406;376;420	ENSP00000292538:A422V;ENSP00000449371:A406V;ENSP00000409745:A376V;ENSP00000414091:A420V	ENSP00000292538:A422V	A	+	2	0	CUX1	101703366	0.997000	0.39634	0.945000	0.38365	0.791000	0.44710	5.063000	0.64332	2.190000	0.69967	0.561000	0.74099	GCA	CUX1	-	pfam_CASP_C	ENSG00000257923		0.622	CUX1-003	KNOWN	basic|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347534.3	-	0	71	0	C	NM_001913		101916646	1	tier1	-	no_errors	ENST00000292538	ensembl	human	known	74_37	missense	18.42	62	14	SNP	0.963	T	T	101916646	C	T	101916646	3	4	43	1	0	0	0	0	1	0	0	0	4073	710	25	3	4693	3	CUX1	7	101916646	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	1678318	101916646	57222017	86	10449											
PUS7	54517	genome.wustl.edu	37	chr7	105111289	105111289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatttaaccaagtagcccTtttcagctgcggggggaaaa	11	10	11	9	1	1	0	1	0	0	0	1	1	1	1	2	3	5	3	2	3	5	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:105111289T>C	ENST00000356362.2	-	11	1458	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	PUS7_ENST00000469408.1_Missense_Mutation_p.K415R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	415	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CAAGTAGCCCTTTTCAGCTGC	0.438																																					Colon(138;2387 3051 17860)												0													101	94	96					7																	105111289		2203	4300	6503	SO:0001583	missense	0			AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"pseudouridylate synthase 7 homolog (S. cerevisiae)"			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1244A>G	7.37:g.105111289T>C	ENSP00000348722:p.Lys415Arg		Q75MG4|Q9NX19	Missense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.K415R	ENST00000356362.2	37	c.1244	CCDS34725.1	7	.	.	.	.	.	.	.	.	.	.	T	21.3	4.136165	0.77662	.	.	ENSG00000091127	ENST00000356362;ENST00000544995;ENST00000469408	T;T	0.45276	0.9;0.9	5.62	5.62	0.85841	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.000000	0.85682	D	0.000000	T	0.51958	0.1705	L	0.37507	1.11	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.66847	0.912;0.947	T	0.43589	-0.9382	10	0.26408	T	0.33	-9.3234	14.9943	0.71418	0.0:0.0:0.0:1.0	.	415;415	B3KY42;Q96PZ0	.;PUS7_HUMAN	R	415	ENSP00000348722:K415R;ENSP00000417402:K415R	ENSP00000348722:K415R	K	-	2	0	PUS7	104898525	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	7.499000	0.81566	2.131000	0.65755	0.459000	0.35465	AAG	PUS7	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	ENSG00000091127		0.438	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7	HGNC	protein_coding	OTTHUMT00000348681.1		0	69	0	T	NM_019042		105111289	-1			no_errors	ENST00000356362	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	C	C	105111289	T	C	105111289	3	2	43	1	0	0	0	0	1	0	0	0	12878	1609	56	4	765	4	PUS7	7	105111289	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	3194643	105111289	54027374	87	10450											
GRM8	2918	genome.wustl.edu	37	chr7	126173519	126173519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgtatctggtgctgcaatCattaaaaacgtgattgaata	14	14	8	5	1	2	2	1	2	1	0	2	2	2	2	0	1	3	3	0	1	7	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:126173519C>T	ENST00000339582.2	-	9	2725	c.1917G>A	c.(1915-1917)atG>atA	p.M639I	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.M639I|GRM8_ENST00000358373.3_Missense_Mutation_p.M639I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	639					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTGCTGCAATCATTAAAAACG	0.458										HNSCC(24;0.065)																																							0													92	92	92					7																	126173519		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1917G>A	7.37:g.126173519C>T	ENSP00000344173:p.Met639Ile		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.M639I	ENST00000339582.2	37	c.1917	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231690	0.58777	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.87729	-2.29;-2.29;-2.29	5.75	5.75	0.90469	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81297	0.4793	L	0.28274	0.84	0.80722	D	1	P;B	0.38335	0.627;0.05	B;B	0.36030	0.216;0.055	T	0.80032	-0.1552	10	0.33141	T	0.24	.	18.9383	0.92595	0.0:1.0:0.0:0.0	.	639;639	O00222-2;O00222	.;GRM8_HUMAN	I	639	ENSP00000344173:M639I;ENSP00000409790:M639I;ENSP00000351142:M639I	ENSP00000344173:M639I	M	-	3	0	GRM8	125960755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.732000	0.93576	0.655000	0.94253	ATG	GRM8	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000179603		0.458	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0	41	0	C			126173519	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	T	T	126173519	C	T	126173519	3	4	43	1	0	0	0	0	1	0	0	0	6830	826	29	3	871	3	GRM8	7	126173519	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	21062230	126173519	32965144	88	10451											
PDIA4	9601	genome.wustl.edu	37	chr7	148718188	148718190	+	In_Frame_Del	DEL	TCC	TCC	-																															cttcttcctcatcatcatctTcctcctcctcctcctcttca																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr7:148718188_148718190delTCC	ENST00000286091.4	-	2	370_372	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	46	Asp/Glu-rich (acidic).|Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			atcatcatcttcctcctcctcct	0.424																																																	0										16,4248		0,16,2116						-8.9	0			143	53,8201		0,53,4074	no	coding	PDIA4	NM_004911.4		0,69,6190	A1A1,A1R,RR		0.6421,0.3752,0.5512				69,12449				SO:0001651	inframe_deletion	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.138_140delGGA	7.37:g.148718197_148718199delTCC	ENSP00000286091:p.Glu47del		A8K4K6|Q549T6	In_Frame_Del	DEL	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E47in_frame_del	ENST00000286091.4	37	c.140_138	CCDS5893.1	7																																																																																			PDIA4	-	pirsf_Protein_diS-isomerase_A4	ENSG00000155660		0.424	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1		0	74	0	TCC	NM_004911		148718190	-1			no_errors	ENST00000286091	ensembl	human	known	74_37	in_frame_del	6.35	59	4	DEL	0.950:0.950:0.167	0	-	148718190	TCC	-	148718188	7	5	43	1	0	1	0	1	0	0	0	0	11709	1783	62	0	1833	0	PDIA4	7	148718188	In_Frame_Del	DEL	TCC	TCGA-JY-A93C-01A-11D-A387-09	22544669	148718188	10420475	89	10452											
BHLHE22	27319	genome.wustl.edu	37	chr8	65493930	65493930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccacggcggcgccagcGtccccccggggggcctgggc	3	3	16	19	5	0	0	0	0	0	0	2	0	2	0	7	6	1	0	7	6	0	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr8:65493930G>A	ENST00000321870.1	+	1	1117	c.583G>A	c.(583-585)Gtc>Atc	p.V195I	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	195	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcgccagcgtccccccggg	0.796																																					Colon(113;104 1586 2865 9855 18065)												0													1	1	1					8																	65493930		589	1498	2087	SO:0001583	missense	0			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.583G>A	8.37:g.65493930G>A	ENSP00000318799:p.Val195Ile			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V195I	ENST00000321870.1	37	c.583	CCDS6179.1	8	.	.	.	.	.	.	.	.	.	.	G	5.400	0.259039	0.10239	.	.	ENSG00000180828	ENST00000321870	T	0.81415	-1.49	3.73	2.82	0.32997	.	0.501802	0.16512	U	0.211197	T	0.59985	0.2234	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.47100	-0.9143	10	0.27785	T	0.31	-11.1079	8.66	0.34086	0.0:0.2494:0.7506:0.0	.	195	Q8NFJ8	BHE22_HUMAN	I	195	ENSP00000318799:V195I	ENSP00000318799:V195I	V	+	1	0	BHLHE22	65656484	0.946000	0.32159	0.004000	0.12327	0.546000	0.35178	4.410000	0.59774	0.726000	0.32339	0.455000	0.32223	GTC	BHLHE22	-	NULL	ENSG00000180828		0.796	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	HGNC	protein_coding	OTTHUMT00000378549.1		0	10	0	G	NM_152414		65493930	1			no_errors	ENST00000321870	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.103	A	A	65493930	G	A	65493930	3	1	43	1	0	0	0	0	1	0	0	0	1423	1145	40	1	585	1	BHLHE22	8	65493930	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		65493930	80870092	90	10453											
ZFHX4	79776	genome.wustl.edu	37	chr8	77620259	77620259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccaccaatcacaggcaCgaggcggccctgaagctcta	12	5	9	15	2	2	1	1	1	1	0	2	2	2	1	3	3	2	2	3	3	4	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr8:77620259C>A	ENST00000521891.2	+	3	3517	c.3069C>A	c.(3067-3069)caC>caA	p.H1023Q	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.H997Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H997Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H997Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	997					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.H1023H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCACAGGCACGAGGCGGCCC	0.468										HNSCC(33;0.089)																																							1	Substitution - coding silent(1)	lung(1)											97	97	97					8																	77620259		1997	4162	6159	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3069C>A	8.37:g.77620259C>A	ENSP00000430497:p.His1023Gln		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.H1023Q	ENST00000521891.2	37	c.3069	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874586	0.33069	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.02	-1.83	0.07833	.	0.000000	0.46442	U	0.000297	T	0.71779	0.3380	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.998;0.998;1.0	T	0.73908	-0.3834	10	0.87932	D	0	.	13.1619	0.59548	0.0:0.2175:0.0:0.7825	.	997;997;1023;997	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Q	1023;1023;997;997;997	ENSP00000430497:H1023Q;ENSP00000399605:H997Q;ENSP00000050961:H997Q;ENSP00000430848:H997Q	ENSP00000050961:H997Q	H	+	3	2	ZFHX4	77782814	0.005000	0.15991	0.971000	0.41717	0.987000	0.75469	-1.167000	0.03126	-0.633000	0.05545	-0.759000	0.03464	CAC	ZFHX4	-	NULL	ENSG00000091656		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	39	0	C	NM_024721		77620259	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	66.67	12	24	SNP	0.983	A	A	77620259	C	A	77620259	3	1	43	1	0	0	0	0	1	0	0	0	17683	535	19	2	3075	2	ZFHX4	8	77620259	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	12126329	77620259	68743763	91	10454											
LRRCC1	85444	genome.wustl.edu	37	chr8	86044118	86044118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataccaagagaaaattgaCgtgttaagccagcagtatat	17	9	9	6	1	0	2	0	1	0	1	0	4	0	2	2	0	3	3	2	0	8	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr8:86044118C>T	ENST00000360375.3	+	12	2039	c.1890C>T	c.(1888-1890)gaC>gaT	p.D630D	LRRCC1_ENST00000414626.2_Silent_p.D610D	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	630					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGAAAATTGACGTGTTAAGCC	0.358																																																	0													117	109	112					8																	86044118		1837	4078	5915	SO:0001819	synonymous_variant	0			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)"		"leucine rich repeat and coiled-coil domain containing 1"			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.1890C>T	8.37:g.86044118C>T			B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin	p.D630	ENST00000360375.3	37	c.1890	CCDS43750.1	8																																																																																			LRRCC1	-	NULL	ENSG00000133739		0.358	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRCC1	HGNC	protein_coding	OTTHUMT00000380267.1	-	0	75	0	C	NM_033402		86044118	1	tier1	-	no_errors	ENST00000360375	ensembl	human	known	74_37	silent	8.70	105	10	SNP	0.000	T	T	86044118	C	T	86044118	2	4	43	1	0	0	0	0	0	0	0	1	9061	535	19	1		1	LRRCC1	8	86044118	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	8423859	86044118	60319904	92	10455											
SLC7A13	157724	genome.wustl.edu	37	chr8	87235208	87235208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcatacaaacctgaagaGagaatttccctgggtgtcag	12	11	10	8	0	1	3	1	1	0	2	2	4	2	3	2	1	3	1	2	1	4	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr8:87235208G>A	ENST00000297524.3	-	2	913	c.810C>T	c.(808-810)ctC>ctT	p.L270L	SLC7A13_ENST00000419776.2_Silent_p.L261L|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	270						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.L270L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AACCTGAAGAGAGAATTTCCC	0.383																																																	1	Substitution - coding silent(1)	lung(1)											122	125	124					8																	87235208		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.810C>T	8.37:g.87235208G>A			Q05C37|Q08AH9|Q96N84	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.L270	ENST00000297524.3	37	c.810	CCDS34917.1	8																																																																																			SLC7A13	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000164893		0.383	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A13	HGNC	protein_coding	OTTHUMT00000374704.1	-	0	69	0	G	NM_138817		87235208	-1	tier1	-	no_errors	ENST00000297524	ensembl	human	known	74_37	silent	21.95	64	18	SNP	0.170	A	A	87235208	G	A	87235208	2	1	43	1	0	0	0	0	0	0	0	1	14740	929	33	3		3	SLC7A13	8	87235208	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1191090	87235208	59128814	93	10456											
GSDMC	56169	genome.wustl.edu	37	chr8	130762320	130762320	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaagtttctttaggaTggcaccaccagggccatcca	9	11	10	11	0	1	1	0	1	1	0	2	2	2	2	4	3	0	3	4	3	2	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr8:130762320T>G	ENST00000276708.4	-	12	2010	c.1129A>C	c.(1129-1131)Atc>Ctc	p.I377L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	377						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTCTTTAGGATGGCACCACCA	0.373																																																	0													37	37	37					8																	130762320		2203	4300	6503	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1129A>C	8.37:g.130762320T>G	ENSP00000276708:p.Ile377Leu		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.I377L	ENST00000276708.4	37	c.1129	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	T	16.87	3.243064	0.58995	.	.	ENSG00000147697	ENST00000276708	T	0.22743	1.94	4.76	0.837	0.18896	.	0.343618	0.25189	N	0.032472	T	0.22437	0.0541	M	0.72118	2.19	0.19300	N	0.999975	P	0.48089	0.905	P	0.47786	0.557	T	0.10154	-1.0642	10	0.32370	T	0.25	.	1.6357	0.02741	0.1709:0.095:0.1779:0.5561	.	377	Q9BYG8	GSDMC_HUMAN	L	377	ENSP00000276708:I377L	ENSP00000276708:I377L	I	-	1	0	GSDMC	130831502	0.294000	0.24380	0.054000	0.19295	0.086000	0.17979	0.211000	0.17474	0.061000	0.16311	0.482000	0.46254	ATC	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.373	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	-	0	97	0	T			130762320	-1	tier1	-	no_errors	ENST00000276708	ensembl	human	known	74_37	missense	19.27	87	21	SNP	0.200	G	G	130762320	T	G	130762320	3	3	43	1	0	0	0	0	1	0	0	0	6845	1464	51	4	409	4	GSDMC	8	130762320	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	43527112	130762320	15601702	94	10457											
ARHGAP39	80728	genome.wustl.edu	37	chr8	145773258	145773258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcttggggctggagccCgcctgctccacgtagaccag	6	6	14	15	3	0	1	0	0	0	1	1	2	1	2	4	3	3	5	4	3	1	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr8:145773258C>T	ENST00000276826.5	-	4	1413	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	ARHGAP39_ENST00000377307.2_Silent_p.A404A|ARHGAP39_ENST00000540274.1_Silent_p.A404A|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	404					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCTGGAGCCCGCCTGCTCCA	0.692																																																	0													15	12	13					8																	145773258		2153	4210	6363	SO:0001819	synonymous_variant	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1212G>A	8.37:g.145773258C>T			B4E1I1	Silent	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.A404	ENST00000276826.5	37	c.1212		8																																																																																			ARHGAP39	-	NULL	ENSG00000147799		0.692	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1		0	10	0	C			145773258	-1			no_errors	ENST00000377307	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.029	T	T	145773258	C	T	145773258	2	4	43	1	0	0	0	0	0	0	0	1	884	639	23	1		1	ARHGAP39	8	145773258	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	15010938	145773258	590764	95	10458											
RPL8	6132	genome.wustl.edu	37	chr8	146017167	146017167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgctaacccttcttgcCgcaatacacaaactggcccg	10	8	8	15	3	1	0	0	0	1	0	1	1	1	0	3	1	5	2	3	1	4	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr8:146017167C>T	ENST00000262584.3	-	3	503	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	RPL8_ENST00000394920.2_Missense_Mutation_p.G91S|RPL8_ENST00000528957.1_Missense_Mutation_p.G91S|RPL8_ENST00000527914.1_Intron|RPL8_ENST00000529163.1_Intron	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	91					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CCCTTCTTGCCGCAATACACA	0.597																																																	0													79	76	77					8																	146017167		2203	4300	6503	SO:0001583	missense	0			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.271G>A	8.37:g.146017167C>T	ENSP00000262584:p.Gly91Ser		A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2	p.G91S	ENST00000262584.3	37	c.271	CCDS6433.1	8	.	.	.	.	.	.	.	.	.	.	C	28.5	4.924226	0.92319	.	.	ENSG00000161016	ENST00000394920;ENST00000262584;ENST00000528957;ENST00000534813;ENST00000533397;ENST00000532702	T;T;T;T;T	0.52754	0.74;0.74;0.74;0.65;0.73	5.58	5.58	0.84498	Nucleic acid-binding, OB-fold-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.90198	3.095	0.80722	D	1	D;D;P	0.63880	0.993;0.981;0.885	D;D;P	0.65684	0.937;0.922;0.5	T	0.79165	-0.1916	10	0.87932	D	0	-7.0225	17.5006	0.87730	0.0:1.0:0.0:0.0	.	91;91;55	B4DVG7;P62917;E9PIZ3	.;RL8_HUMAN;.	S	91;91;91;55;91;91	ENSP00000378378:G91S;ENSP00000262584:G91S;ENSP00000433464:G91S;ENSP00000435313:G91S;ENSP00000434535:G91S	ENSP00000262584:G91S	G	-	1	0	RPL8	145987971	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.888000	0.63164	2.821000	0.97095	0.555000	0.69702	GGC	RPL8	-	superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2	ENSG00000161016		0.597	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	HGNC	protein_coding	OTTHUMT00000382948.1		0	75	0	C	NM_000973		146017167	-1			no_errors	ENST00000262584	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	146017167	C	T	146017167	3	4	43	1	0	0	0	0	1	0	0	0	13647	652	23	1	518	1	RPL8	8	146017167	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	243909	146017167	346855	96	10459											
NFX1	4799	genome.wustl.edu	37	chr9	33311168	33311168	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaacatgtgaatgtggaCgaaccaggtaaagttaaaat	19	8	9	5	1	0	1	0	1	0	0	0	3	0	2	1	2	2	2	1	2	8	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr9:33311168C>T	ENST00000379540.3	+	6	1503	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	NFX1_ENST00000318524.6_Nonsense_Mutation_p.R481*|NFX1_ENST00000379521.4_Nonsense_Mutation_p.R481*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	481					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGAATGTGGACGAACCAGGTA	0.413																																																	0													146	142	143					9																	33311168		2203	4300	6503	SO:0001587	stop_gained	0			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1441C>T	9.37:g.33311168C>T	ENSP00000368856:p.Arg481*		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Nonsense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.R481*	ENST00000379540.3	37	c.1441	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	C	37	5.991872	0.97179	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	.	.	.	5.56	5.56	0.83823	.	0.203246	0.42964	D	0.000635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0929	0.53737	0.1716:0.8284:0.0:0.0	.	.	.	.	X	481	.	ENSP00000317695:R481X	R	+	1	2	NFX1	33301168	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	3.877000	0.56123	2.629000	0.89072	0.644000	0.83932	CGA	NFX1	-	NULL	ENSG00000086102		0.413	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	-	0	75	0	C			33311168	1	tier1	-	no_errors	ENST00000379540	ensembl	human	known	74_37	nonsense	48.89	23	22	SNP	1.000	T	T	33311168	C	T	33311168	4	4	43	1	0	0	0	0	0	1	0	0	10426	528	19	1	1463	1	NFX1	9	33311168	Nonsense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09		33311168	107902263	97	10460											
FRMD3	257019	genome.wustl.edu	37	chr9	86153075	86153075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggctgagcgatttgacGctggagctccgaaagtggat	8	10	14	9	3	0	2	0	2	0	0	2	6	2	4	2	3	2	3	2	3	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr9:86153075G>A	ENST00000304195.3	-	1	278	c.72C>T	c.(70-72)agC>agT	p.S24S	FRMD3_ENST00000376438.1_Silent_p.S24S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	24						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCGATTTGACGCTGGAGCTCC	0.642																																																	0													27	32	30					9																	86153075		2085	4216	6301	SO:0001819	synonymous_variant	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.72C>T	9.37:g.86153075G>A			A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.S24	ENST00000304195.3	37	c.72	CCDS43840.1	9																																																																																			FRMD3	-	NULL	ENSG00000172159		0.642	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	-	0	145	0	G	NM_174938		86153075	-1	tier1	-	no_errors	ENST00000304195	ensembl	human	known	74_37	silent	40.59	60	41	SNP	1.000	A	A	86153075	G	A	86153075	2	1	43	1	0	0	0	0	0	0	0	1	6074	1078	38	1		1	FRMD3	9	86153075	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	52841907	86153075	55060356	98	10461											
GAS1	2619	genome.wustl.edu	37	chr9	89561664	89561664	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtccccccgcgggcctCgccgccgccgcccagcagcg	3	3	12	23	7	0	0	0	0	0	0	2	0	1	0	8	1	2	1	8	1	0	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr9:89561664C>A	ENST00000298743.7	-	1	440	c.31G>T	c.(31-33)Gag>Tag	p.E11*	RP11-276H19.1_ENST00000415801.1_lincRNA	NM_002048.2	NP_002039.2	P54826	GAS1_HUMAN	growth arrest-specific 1	11					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cerebellum morphogenesis (GO:0021587)|developmental growth (GO:0048589)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|eye morphogenesis (GO:0048592)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein processing (GO:0010955)|negative regulation of smoothened signaling pathway (GO:0045879)|odontogenesis (GO:0042476)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|programmed cell death (GO:0012501)|regulation of apoptotic process (GO:0042981)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|regulation of smoothened signaling pathway (GO:0008589)	anchored component of plasma membrane (GO:0046658)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|lung(2)|skin(1)	4						ccgcgggcctcgccgccgccg	0.811																																																	0													1	1	1					9																	89561664		115	246	361	SO:0001587	stop_gained	0				CCDS6674.1	9q21.3-q22	2008-07-21			ENSG00000180447	ENSG00000180447			4165	protein-coding gene	gene with protein product	"Growth arrest-specific gene-1"	139185				8307588	Standard	NM_002048		Approved		uc004aox.4	P54826	OTTHUMG00000020141	ENST00000298743.7:c.31G>T	9.37:g.89561664C>A	ENSP00000298743:p.Glu11*		B9EGM4|Q6B086	Nonsense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.E11*	ENST00000298743.7	37	c.31	CCDS6674.1	9	.	.	.	.	.	.	.	.	.	.	C	38	7.229391	0.98150	.	.	ENSG00000180447	ENST00000298743	.	.	.	3.04	3.04	0.35103	.	1.296010	0.06471	U	0.731136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	7.1285	0.25486	0.0:0.8659:0.0:0.1341	.	.	.	.	X	11	.	ENSP00000298743:E11X	E	-	1	0	GAS1	88751484	0.129000	0.22400	1.000000	0.80357	0.933000	0.57130	1.062000	0.30555	1.239000	0.43787	0.298000	0.19748	GAG	GAS1	-	NULL	ENSG00000180447		0.811	GAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS1	HGNC	protein_coding	OTTHUMT00000052928.1		0	47	0	C	NM_002048		89561664	-1			no_errors	ENST00000298743	ensembl	human	known	74_37	nonsense	23.53	26	8	SNP	0.997	A	A	89561664	C	A	89561664	4	1	43	1	0	0	0	0	0	1	0	0	6269	893	31	2	1010	2	GAS1	9	89561664	Nonsense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	3408589	89561664	51651767	99	10462											
FAM120A	23196	genome.wustl.edu	37	chr9	96294581	96294581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaaaactgagagacttGcttttagaaagaacagactt	18	9	9	5	0	0	6	0	1	0	5	0	8	0	6	0	0	3	1	0	0	6	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr9:96294581G>T	ENST00000277165.6	+	10	2073	c.1879G>T	c.(1879-1881)Gct>Tct	p.A627S	FAM120A_ENST00000475933.1_3'UTR|FAM120A_ENST00000340893.4_Missense_Mutation_p.A627S|FAM120A_ENST00000333936.5_Missense_Mutation_p.A655S	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	627						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGAGACTTGCTTTTAGAAA	0.443																																																	0													111	108	109					9																	96294581		2203	4300	6503	SO:0001583	missense	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.1879G>T	9.37:g.96294581G>T	ENSP00000277165:p.Ala627Ser		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.A655S	ENST00000277165.6	37	c.1963	CCDS6706.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.040770|5.040770	0.93685|0.93685	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000277165;ENST00000333936;ENST00000340893;ENST00000427765|ENST00000446420	T;T;T;T|.	0.53423|.	0.62;0.62;0.62;0.62|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.69333|0.69333	0.3099|0.3099	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;B|.	0.71674|.	0.998;0.979;0.996;0.188|.	D;P;D;B|.	0.80764|.	0.994;0.889;0.99;0.232|.	T|T	0.62253|0.62253	-0.6893|-0.6893	10|6	0.48119|0.31617	T|T	0.1|0.26	-10.8167|-10.8167	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	627;655;627;627|.	Q9NZB2-4;Q9NZB2-6;Q9NZB2-5;Q9NZB2|.	.;.;.;F120A_HUMAN|.	S|F	627;655;627;49|469	ENSP00000277165:A627S;ENSP00000334918:A655S;ENSP00000344698:A627S;ENSP00000412440:A49S|.	ENSP00000277165:A627S|ENSP00000396534:L469F	A|L	+|+	1|3	0|2	FAM120A|FAM120A	95334402|95334402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.517000|8.517000	0.90555|0.90555	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCT|TTG	FAM120A	-	NULL	ENSG00000048828		0.443	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	-	0	78	0	G	NM_014612		96294581	1	tier1	-	no_errors	ENST00000333936	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	96294581	G	T	96294581	3	4	43	1	0	0	0	0	1	0	0	0	5434	1319	46	3	1917	3	FAM120A	9	96294581	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	6732917	96294581	44918850	100	10463											
ZNF169	169841	genome.wustl.edu	37	chr9	97062288	97062288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagagacagaaggccccGacagctcattaagaaagagg	15	4	14	8	1	1	4	1	0	0	4	1	7	1	5	2	3	1	1	2	3	3	1	rs536175880		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr9:97062288G>T	ENST00000395395.2	+	5	538	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D150N(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGAAGGCCCCGACAGCTCATT	0.488																																																	1	Substitution - Missense(1)	lung(1)											51	49	50					9																	97062288		2203	4300	6503	SO:0001583	missense	0			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"Zinc fingers, C2H2-type", "-"	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.448G>T	9.37:g.97062288G>T	ENSP00000378792:p.Asp150Tyr		A2AGP5|A8K127|Q6PI28	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D150Y	ENST00000395395.2	37	c.448	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	G	6.615	0.481897	0.12581	.	.	ENSG00000175787	ENST00000395395	T	0.06768	3.26	2.44	-2.4	0.06583	.	.	.	.	.	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.39282	0.666	B	0.34779	0.189	T	0.27502	-1.0072	9	0.05833	T	0.94	.	0.7534	0.00994	0.4191:0.1701:0.2386:0.1722	.	150	Q14929	ZN169_HUMAN	Y	150	ENSP00000378792:D150Y	ENSP00000378792:D150Y	D	+	1	0	ZNF169	96102109	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.664000	0.25068	-0.635000	0.05531	-0.306000	0.09157	GAC	ZNF169	-	NULL	ENSG00000175787		0.488	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1		0	48	0	G	NM_194320		97062288	1			no_errors	ENST00000395395	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.000	T	T	97062288	G	T	97062288	3	4	43	1	0	0	0	0	1	0	0	0	17790	1058	37	2	462	2	ZNF169	9	97062288	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	767707	97062288	44151143	101	10464											
RABGAP1	23637	genome.wustl.edu	37	chr9	125838524	125838524	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgtctgttctctttcagGgaataagtgttatttttaat	8	22	7	4	0	3	0	1	0	2	0	4	1	3	1	0	1	0	2	0	1	4	9			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr9:125838524G>T	ENST00000373647.4	+	18	2388	c.2254G>T	c.(2254-2256)Gga>Tga	p.G752*	RABGAP1_ENST00000373643.5_Splice_Site_p.G91*	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	752	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TCTCTTTCAGGGAATAAGTGT	0.328																																																	0													146	139	141					9																	125838524		2202	4299	6501	SO:0001630	splice_region_variant	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.2254-1G>T	9.37:g.125838524G>T			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.G752*	ENST00000373647.4	37	c.2254	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	G	39	7.885679	0.98542	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6545	19.6889	0.95989	0.0:0.0:1.0:0.0	.	.	.	.	X	752;91	.	.	G	+	1	0	RABGAP1	124878345	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.144000	0.94629	2.650000	0.89964	0.650000	0.86243	GGA	RABGAP1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000011454		0.328	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3		0	60	0	G	NM_012197	Nonsense_Mutation	125838524	1			no_errors	ENST00000373647	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	T	T	125838524	G	T	125838524	5	4	43	1	0	0	0	0	0	0	1	0	13009	1246	43	3	2320	3	RABGAP1	9	125838524	Splice_Site	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	28776236	125838524	15374907	102	10465											
CEL	1056	genome.wustl.edu	37	chr9	135946427	135946427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactgggaaccctacactaCggaaaacagcggctacctgg	13	5	10	13	2	0	0	0	0	0	0	0	2	0	2	2	4	6	1	2	4	6	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr9:135946427C>T	ENST00000372080.4	+	11	1563	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	CEL_ENST00000351304.7_Missense_Mutation_p.T447M	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	513					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCCTACACTACGGAAAACAGC	0.607																																																	0													36	46	43					9																	135946427		2021	4192	6213	SO:0001583	missense	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1547C>T	9.37:g.135946427C>T	ENSP00000361151:p.Thr516Met		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T516M	ENST00000372080.4	37	c.1547	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	C	5.976	0.363985	0.11296	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.59083	0.29;0.29	5.04	-3.94	0.04130	Carboxylesterase, type B (1);	4.726440	0.00931	N	0.002706	T	0.50956	0.1646	M	0.67569	2.06	0.09310	N	1	B	0.27140	0.169	B	0.15484	0.013	T	0.38308	-0.9667	10	0.44086	T	0.13	.	5.6204	0.17453	0.3482:0.4416:0.0:0.2102	.	513	P19835	CEL_HUMAN	M	516;447;515	ENSP00000361151:T516M;ENSP00000342217:T447M	ENSP00000304021:T515M	T	+	2	0	CEL	134936248	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.042000	0.00307	-0.310000	0.08766	0.297000	0.19635	ACG	CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0	64	0	C			135946427	1	tier1	-	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	16.98	44	9	SNP	0.000	T	T	135946427	C	T	135946427	3	4	43	1	0	0	0	0	1	0	0	0	3216	536	19	1	1589	1	CEL	9	135946427	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	10107903	135946427	5267004	103	10466											
ANUBL1	93550	genome.wustl.edu	37	chr10	46111990	46111990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatgagtttctgcataaCgatgagatgcacagaagttg	13	10	11	7	1	1	3	0	2	1	2	1	5	1	3	1	0	4	4	1	0	2	3	rs371324279		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr10:46111990C>T	ENST00000344646.5	-	10	2293	c.2078G>A	c.(2077-2079)cGt>cAt	p.R693H	ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Missense_Mutation_p.R619H	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	693							zinc ion binding (GO:0008270)										TTCTGCATAACGATGAGATGC	0.418																																																	0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	168	147	154		2078,2078	5.9	1	10		154	0,8600		0,0,4300	no	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	693/728,693/728	46111990	1,13005	2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2078G>A	10.37:g.46111990C>T	ENSP00000339484:p.Arg693His		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.R693H	ENST00000344646.5	37	c.2078	CCDS7214.1	10	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963687	0.92791	2.27E-4	0.0	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.60299	0.2;0.2	5.86	5.86	0.93980	Zinc finger, AN1-type (4);	0.157574	0.41294	D	0.000918	T	0.81269	0.4787	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84410	0.0565	10	0.87932	D	0	-8.8451	17.6957	0.88281	0.0:1.0:0.0:0.0	.	693	Q86XD8	ANUB1_HUMAN	H	693;619;575	ENSP00000339484:R693H;ENSP00000363486:R619H	ENSP00000339484:R693H	R	-	2	0	ANUBL1	45431996	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.452000	0.80683	2.776000	0.95493	0.655000	0.94253	CGT	ZFAND4	-	pfam_Znf_AN1,smart_Znf_AN1,pfscan_Znf_AN1	ENSG00000172671		0.418	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	-	0	88	0	C	NM_174890		46111990	-1	tier1	-	no_errors	ENST00000344646	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	T	T	46111990	C	T	46111990	3	4	43	1	0	0	0	0	1	0	0	0	713	536	19	1	109	1	ANUBL1	10	46111990	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09		46111990	89422757	104	10467											
CTNNA3	29119	genome.wustl.edu	37	chr10	68280417	68280417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcttgtaatgtcatctaCggcttcagtgaggacatgta	11	13	10	7	1	3	1	2	1	1	0	3	2	3	2	0	2	2	4	0	2	4	5	rs368067642		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr10:68280417C>T	ENST00000433211.2	-	11	1663	c.1489G>A	c.(1489-1491)Gta>Ata	p.V497I	CTNNA3_ENST00000373744.4_Missense_Mutation_p.V497I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATGTCATCTACGGCTTCAGTG	0.353																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	193	168	176		1489,1489	4.5	1	10		176	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CTNNA3	NM_013266.2,NM_001127384.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	497/896,497/896	68280417	1,13005	2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1489G>A	10.37:g.68280417C>T	ENSP00000389714:p.Val497Ile			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.V497I	ENST00000433211.2	37	c.1489	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404533	0.83230	0.0	1.16E-4	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.50001	0.76;0.76	5.43	4.53	0.55603	.	0.124076	0.35466	N	0.003197	T	0.67961	0.2949	M	0.84433	2.695	0.80722	D	1	P;B	0.51791	0.948;0.003	P;B	0.61592	0.891;0.014	T	0.73626	-0.3923	10	0.87932	D	0	-14.0514	12.1414	0.54000	0.0:0.9164:0.0:0.0836	.	497;497	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	I	497	ENSP00000389714:V497I;ENSP00000362849:V497I	ENSP00000362849:V497I	V	-	1	0	CTNNA3	67950423	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.969000	0.70422	1.442000	0.47568	0.650000	0.86243	GTA	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000183230		0.353	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	-	0	65	0	C	NM_013266		68280417	-1	tier1	-	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	38.10	39	24	SNP	1.000	T	T	68280417	C	T	68280417	3	4	43	1	0	0	0	0	1	0	0	0	4023	536	19	1	1230	1	CTNNA3	10	68280417	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	22168427	68280417	67254330	105	10468											
C10orf11	83938	genome.wustl.edu	37	chr10	77542758	77542758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtatttgtcactcagcGgcaatcattcttcaaataaa	16	12	5	8	1	5	0	4	0	1	0	5	0	5	0	0	1	1	2	0	1	7	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr10:77542758G>T	ENST00000372499.1	+	1	240	c.25G>T	c.(25-27)Ggc>Tgc	p.G9C	C10orf11_ENST00000593699.1_Intron	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	9					melanocyte differentiation (GO:0030318)			p.G9C(1)		endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GTCACTCAGCGGCAATCATTC	0.408																																																	1	Substitution - Missense(1)	lung(1)											98	87	91					10																	77542758		2203	4300	6503	SO:0001583	missense	0			AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"oculocutaneous albinism 7, autosomal recessive"	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.25G>T	10.37:g.77542758G>T	ENSP00000361577:p.Gly9Cys		B1AVW6	Missense_Mutation	SNP	NULL	p.G9C	ENST00000372499.1	37	c.25	CCDS7351.1	10	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203282	0.38905	.	.	ENSG00000148655	ENST00000372499	T	0.26373	1.74	5.69	0.742	0.18341	.	.	.	.	.	T	0.25754	0.0627	N	0.24115	0.695	0.25506	N	0.987504	D	0.53885	0.963	P	0.54460	0.753	T	0.18840	-1.0324	9	0.38643	T	0.18	.	9.6943	0.40147	0.5888:0.0:0.4112:0.0	.	9	Q9H2I8	CJ011_HUMAN	C	9	ENSP00000361577:G9C	ENSP00000361577:G9C	G	+	1	0	C10orf11	77212764	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	0.936000	0.28938	-0.110000	0.12022	-0.136000	0.14681	GGC	C10orf11	-	NULL	ENSG00000148655		0.408	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf11	HGNC	protein_coding	OTTHUMT00000048839.1		0	25	0	G	NM_032024		77542758	1			no_errors	ENST00000372499	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.998	T	T	77542758	G	T	77542758	3	4	43	1	0	0	0	0	1	0	0	0	1587	1116	39	2	27	2	C10orf11	10	77542758	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	9262341	77542758	57991989	106	10469											
STAMBPL1	57559	genome.wustl.edu	37	chr10	90672881	90672882	+	Frame_Shift_Ins	INS	-	-	A																															aatataaagctgaaattctcINSaaaaaattggagcatcagag																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr10:90672881_90672882insA	ENST00000371926.3	+	6	1402_1403	c.444_445insA	c.(445-447)aaafs	p.K149fs	STAMBPL1_ENST00000371922.1_5'UTR|STAMBPL1_ENST00000371927.3_Frame_Shift_Ins_p.K149fs|STAMBPL1_ENST00000371924.1_Frame_Shift_Ins_p.K149fs	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	149						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CTGAAATTCTCAAAAAATTGGA	0.406																																																	0																																										SO:0001589	frameshift_variant	0			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.450dupA	10.37:g.90672887_90672887dupA	ENSP00000360994:p.Lys149fs		B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Frame_Shift_Ins	INS	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.L150fs	ENST00000371926.3	37	c.444_445	CCDS7391.1	10																																																																																			STAMBPL1	-	NULL	ENSG00000138134		0.406	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBPL1	HGNC	protein_coding	OTTHUMT00000049283.1		0	66	0	-	NM_020799		90672882	1	tier1		no_errors	ENST00000371927	ensembl	human	known	74_37	frame_shift_ins	5.71	33	2	INS	1.000:1.000	A	A	90672882	-	A	90672881	7	5	43	1	0	1	1	0	0	0	0	0	15298	813	29	0	462	0	STAMBPL1	10	90672881	Frame_Shift_Ins	INS	-	TCGA-JY-A93C-01A-11D-A387-09	13130123	90672881	44861866	107	10470											
FAM175B	23172	genome.wustl.edu	37	chr10	126517363	126517363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcgctattcccaatctagGaaatactagccagcaagagt	14	9	7	11	1	1	1	0	0	1	1	3	2	2	2	2	1	3	2	2	1	7	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr10:126517363G>T	ENST00000298492.5	+	6	542	c.497G>T	c.(496-498)gGa>gTa	p.G166V		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	166					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						CCCAATCTAGGAAATACTAGC	0.363																																																	0													103	97	99					10																	126517363		2203	4300	6503	SO:0001583	missense	0			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.497G>T	10.37:g.126517363G>T	ENSP00000298492:p.Gly166Val		B4DKR2|Q96H11	Missense_Mutation	SNP	prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175	p.G166V	ENST00000298492.5	37	c.497	CCDS31308.2	10	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985861	0.93044	.	.	ENSG00000165660	ENST00000298492	T	0.46451	0.87	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69803	-0.5046	10	0.87932	D	0	-15.3879	20.5948	0.99439	0.0:0.0:1.0:0.0	.	166	Q15018	F175B_HUMAN	V	166	ENSP00000298492:G166V	ENSP00000298492:G166V	G	+	2	0	FAM175B	126507353	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.399000	0.97285	2.873000	0.98535	0.563000	0.77884	GGA	FAM175B	-	prints_FAM175	ENSG00000165660		0.363	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175B	HGNC	protein_coding	OTTHUMT00000050891.2	-	0	88	0	G	NM_032182		126517363	1	tier1	-	no_errors	ENST00000298492	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	126517363	G	T	126517363	3	4	43	1	0	0	0	0	1	0	0	0	5517	1174	41	3	519	3	FAM175B	10	126517363	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	35844482	126517363	9017384	108	10471											
MUC6	4588	genome.wustl.edu	37	chr11	1013970	1013972	+	In_Frame_Del	DEL	CTC	CTC	-																															atgcaccccttgaacgtgatCtcctcctgctgctcccgcac																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:1013970_1013972delCTC	ENST00000421673.2	-	32	7119_7121	c.7069_7071delGAG	c.(7069-7071)gagdel	p.E2357del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2357	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAACGTGATCTCCTCCTGCTGC	0.66																																																	0																																										SO:0001651	inframe_deletion	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.7069_7071delGAG	11.37:g.1013973_1013975delCTC	ENSP00000406861:p.Glu2357del		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.E2357in_frame_del	ENST00000421673.2	37	c.7071_7069	CCDS44513.1	11																																																																																			MUC6	-	smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000184956		0.66	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	115	0	CTC	XM_290540		1013972	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	in_frame_del	21.84	68	19	DEL	0.081:0.065:0.053	-	-	1013972	CTC	-	1013970	7	5	43	1	0	1	0	1	0	0	0	0	10018	912	32	0	256	0	MUC6	11	1013970	In_Frame_Del	DEL	CTC	TCGA-JY-A93C-01A-11D-A387-09		1013970	133992546	109	10472											
MUC5B	727897	genome.wustl.edu	37	chr11	1278831	1278831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcggtgcagtgcaaGcccctgccctgtgacgccca	6	8	12	15	2	1	1	1	1	0	0	2	1	1	1	4	1	4	2	4	1	1	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:1278831G>T	ENST00000529681.1	+	41	16399	c.16341G>T	c.(16339-16341)aaG>aaT	p.K5447N	MUC5B_ENST00000447027.1_Missense_Mutation_p.K5450N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5447	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGTGCAAGCCCCTGCCCT	0.692																																																	0													42	57	52					11																	1278831		2139	4239	6378	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16341G>T	11.37:g.1278831G>T	ENSP00000436812:p.Lys5447Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.K5450N	ENST00000529681.1	37	c.16350	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263521	0.23136	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.42900	0.96;0.96	4.43	-2.96	0.05547	.	.	.	.	.	T	0.23532	0.0569	L	0.34521	1.04	0.09310	N	1	B;P	0.39809	0.312;0.689	B;B	0.28305	0.053;0.088	T	0.13255	-1.0516	9	0.87932	D	0	.	7.5556	0.27822	0.1941:0.5773:0.2286:0.0	.	5784;5450	A7Y9J9;E9PBJ0	.;.	N	5447;5450;5391;346;5159	ENSP00000436812:K5447N;ENSP00000415793:K5450N	ENSP00000343037:K5391N	K	+	3	2	MUC5B	1235407	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-4.784000	0.00186	-0.397000	0.07691	0.549000	0.68633	AAG	MUC5B	-	smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000117983		0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2		0	138	0	G	XM_001126093		1278831	1			no_errors	ENST00000447027	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	1278831	G	T	1278831	3	4	43	1	0	0	0	0	1	0	0	0	10017	962	34	3	16512	3	MUC5B	11	1278831	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	264861	1278831	133727685	110	10473											
HBG2	3048	genome.wustl.edu	37	chr11	5275677	5275677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggttgcccatgatggCagaggcagaggacaggttgc	8	9	17	7	0	0	3	0	1	0	2	0	4	0	4	1	6	2	4	1	6	0	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:5275677C>T	ENST00000380259.2	-	7	1400	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	HBG2_ENST00000380252.1_Missense_Mutation_p.A44T|HBG2_ENST00000336906.4_Missense_Mutation_p.A54T			P69892	HBG2_HUMAN	hemoglobin, gamma G	54					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATGATGGCAGAGGCAGAG	0.522																																																	0													96	77	83					11																	5275677		2201	4295	6496	SO:0001583	missense	0			BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.160G>A	11.37:g.5275677C>T	ENSP00000369609:p.Ala54Thr		A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.A54T	ENST00000380259.2	37	c.160	CCDS7755.1	11	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136276	0.77662	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.93547	-3.24;-3.24;-3.24	3.88	3.88	0.44766	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.96953	0.9005	M	0.90309	3.105	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.97595	1.0119	9	0.87932	D	0	.	13.719	0.62714	0.0:1.0:0.0:0.0	.	54;54	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	T	44;54;54;54	ENSP00000369602:A44T;ENSP00000369609:A54T;ENSP00000338082:A54T	ENSP00000338082:A54T	A	-	1	0	HBG2	5232253	0.988000	0.35896	0.922000	0.36590	0.960000	0.62799	2.774000	0.47694	2.128000	0.65567	0.650000	0.86243	GCC	HBG2	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	ENSG00000196565		0.522	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBG2	HGNC	protein_coding	OTTHUMT00000142967.2	-	0	280	0	C	NM_000184		5275677	-1	tier1	-	no_errors	ENST00000336906	ensembl	human	known	74_37	missense	25.60	124	43	SNP	0.948	T	T	5275677	C	T	5275677	3	4	43	1	0	0	0	0	1	0	0	0	7010	710	25	3	291	3	HBG2	11	5275677	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	3996846	5275677	129730839	111	10474											
OR6A2	8590	genome.wustl.edu	37	chr11	6816472	6816472	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggagatgccaaaaccTccagcccaagagccagcagc	14	3	9	15	0	0	2	0	0	0	2	1	3	1	2	6	1	6	1	6	1	3	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:6816472T>C	ENST00000332601.3	-	1	656	c.468A>G	c.(466-468)ggA>ggG	p.G156G		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	156					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCCAAAACCTCCAGCCCAAG	0.502																																																	0													81	79	79					11																	6816472		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.468A>G	11.37:g.6816472T>C			Q3MJC7|Q6IF35|Q9H206	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G156	ENST00000332601.3	37	c.468	CCDS7772.1	11																																																																																			OR6A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184933		0.502	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	HGNC	protein_coding	OTTHUMT00000385981.1		0	61	0	T	NM_003696		6816472	-1			no_errors	ENST00000332601	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.132	C	C	6816472	T	C	6816472	2	2	43	1	0	0	0	0	0	0	0	1	11225	1538	54	4		4	OR6A2	11	6816472	Silent	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	1540795	6816472	128190044	112	10475											
HPS5	11234	genome.wustl.edu	37	chr11	18303559	18303559	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacttctctgacaactcAagggccagaccacattcctg	12	9	7	13	0	2	2	1	1	1	1	4	2	3	2	3	1	2	1	3	1	4	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:18303559A>G	ENST00000349215.3	-	22	3544	c.3267T>C	c.(3265-3267)ctT>ctC	p.L1089L	HPS5_ENST00000537258.1_Silent_p.L196L|HPS5_ENST00000438420.2_Silent_p.L975L|HPS5_ENST00000396253.3_Silent_p.L975L|HPS5_ENST00000352460.3_5'UTR	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1089					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTGACAACTCAAGGGCCAGAC	0.512									Hermansky-Pudlak syndrome																																								0													129	121	124					11																	18303559		2199	4293	6492	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.3267T>C	11.37:g.18303559A>G			A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.L1089	ENST00000349215.3	37	c.3267	CCDS7836.1	11																																																																																			HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.512	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0	70	0	A	NM_181507		18303559	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.158	G	G	18303559	A	G	18303559	2	3	43	1	0	0	0	0	0	0	0	1	7369	117	5	4		4	HPS5	11	18303559	Silent	SNP	A	TCGA-JY-A93C-01A-11D-A387-09	11487087	18303559	116702957	113	10476											
SLC17A6	57084	genome.wustl.edu	37	chr11	22396359	22396359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattattgtgcctattggggGacaaattgcagattttctaa	12	15	9	5	0	1	1	0	0	1	1	1	2	1	2	1	2	2	1	1	2	5	8			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:22396359G>A	ENST00000263160.3	+	9	1537	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	367					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CCTATTGGGGGACAAATTGCA	0.388																																																	0													228	224	225					11																	22396359		2203	4300	6503	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1100G>A	11.37:g.22396359G>A	ENSP00000263160:p.Gly367Glu		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G367E	ENST00000263160.3	37	c.1100	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047683	0.93740	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.70749	-0.51	5.74	5.74	0.90152	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93199	0.6590	10	0.72032	D	0.01	.	19.9154	0.97058	0.0:0.0:1.0:0.0	.	367	Q9P2U8	VGLU2_HUMAN	E	367;255	ENSP00000263160:G367E	ENSP00000263160:G367E	G	+	2	0	SLC17A6	22352935	1.000000	0.71417	0.993000	0.49108	0.973000	0.67179	9.466000	0.97665	2.716000	0.92895	0.579000	0.79373	GGA	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.388	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	73	0	G	NM_020346		22396359	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	22396359	G	A	22396359	3	1	43	1	0	0	0	0	1	0	0	0	14466	1174	41	3	1134	3	SLC17A6	11	22396359	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	4092800	22396359	112610157	114	10477											
SLC5A12	159963	genome.wustl.edu	37	chr11	26743173	26743173	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccttttttctctccttaAtggcaaagaacaccccaatt	10	15	4	12	0	1	1	0	0	1	1	3	1	2	1	4	1	2	1	4	1	4	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:26743173A>T	ENST00000396005.3	-	1	398	c.89T>A	c.(88-90)aTt>aAt	p.I30N	SLC5A12_ENST00000280467.6_Missense_Mutation_p.I30N	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	30					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TCTCTCCTTAATGGCAAAGAA	0.458																																																	0													77	80	79					11																	26743173		2203	4299	6502	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.89T>A	11.37:g.26743173A>T	ENSP00000379326:p.Ile30Asn		Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I30N	ENST00000396005.3	37	c.89	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885225	0.72410	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.85955	-2.05;-1.7	5.59	5.59	0.84812	.	0.186798	0.43110	D	0.000611	D	0.89026	0.6598	M	0.71581	2.175	0.47511	D	0.999441	P;D	0.54397	0.933;0.966	P;P	0.52554	0.689;0.702	D	0.90315	0.4340	10	0.72032	D	0.01	.	15.7638	0.78110	1.0:0.0:0.0:0.0	.	30;30	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	N	30	ENSP00000379326:I30N;ENSP00000280467:I30N	ENSP00000280467:I30N	I	-	2	0	SLC5A12	26699749	0.998000	0.40836	0.078000	0.20375	0.956000	0.61745	5.028000	0.64115	2.135000	0.66039	0.477000	0.44152	ATT	SLC5A12	-	pfscan_Na/solute_symporter	ENSG00000148942		0.458	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	-	0	89	0	A	NM_178498		26743173	-1	tier1	-	no_errors	ENST00000396005	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.924	T	T	26743173	A	T	26743173	3	4	43	1	0	0	0	0	1	0	0	0	14709	101	4	5	1827	5	SLC5A12	11	26743173	Missense_Mutation	SNP	A	TCGA-JY-A93C-01A-11D-A387-09	4346814	26743173	108263343	115	10478											
ZDHHC5	25921	genome.wustl.edu	37	chr11	57449967	57449967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatgtttctctttgtgttgGccaacttcagcatggccacc	6	16	8	11	0	2	0	1	0	1	0	3	0	2	0	3	2	2	3	3	2	2	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:57449967G>A	ENST00000287169.3	+	3	1540	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.A7T	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	60					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTTTGTGTTGGCCAACTTCAG	0.453																																																	0													170	140	151					11																	57449967		2201	4296	6497	SO:0001583	missense	0			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"Zinc fingers, DHHC-type"	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.178G>A	11.37:g.57449967G>A	ENSP00000287169:p.Ala60Thr		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.A60T	ENST00000287169.3	37	c.178	CCDS7965.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.179828	0.94846	.	.	ENSG00000156599	ENST00000527985;ENST00000287169	D;D	0.95821	-3.82;-3.82	4.96	4.05	0.47172	.	0.291814	0.37906	N	0.001883	D	0.97145	0.9067	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97214	0.9873	10	0.59425	D	0.04	-15.943	12.9971	0.58652	0.079:0.0:0.921:0.0	.	60	Q9C0B5	ZDHC5_HUMAN	T	7;60	ENSP00000432202:A7T;ENSP00000287169:A60T	ENSP00000287169:A60T	A	+	1	0	ZDHHC5	57206543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	1.312000	0.45043	0.561000	0.74099	GCC	ZDHHC5	-	NULL	ENSG00000156599		0.453	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC5	HGNC	protein_coding	OTTHUMT00000393694.1		0	105	0	G	NM_015457		57449967	1			no_errors	ENST00000287169	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	A	A	57449967	G	A	57449967	3	1	43	1	0	0	0	0	1	0	0	0	17666	1203	42	3	184	3	ZDHHC5	11	57449967	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	30706794	57449967	77556549	116	10479											
OR4D11	219986	genome.wustl.edu	37	chr11	59271520	59271520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctttgtccactccatcGtgcagatctccctgttgctg	4	13	11	13	1	1	1	0	0	1	1	5	1	3	1	3	2	2	4	3	2	0	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:59271520G>A	ENST00000313253.1	+	1	472	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CCACTCCATCGTGCAGATCTC	0.547																																																	0													220	189	200					11																	59271520		2201	4295	6496	SO:0001583	missense	0			AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"GPCR / Class A : Olfactory receptors"	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.472G>A	11.37:g.59271520G>A	ENSP00000320077:p.Val158Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V158M	ENST00000313253.1	37	c.472	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	g	13.23	2.174588	0.38413	.	.	ENSG00000176200	ENST00000313253	T	0.38560	1.13	5.29	3.43	0.39272	GPCR, rhodopsin-like superfamily (1);	0.314786	0.22480	N	0.059503	T	0.43656	0.1257	M	0.64260	1.97	0.34329	D	0.687431	P	0.37176	0.586	B	0.43123	0.409	T	0.56926	-0.7898	10	0.72032	D	0.01	-22.5887	7.2255	0.26012	0.159:0.1405:0.7005:0.0	.	158	Q8NGI4	OR4DB_HUMAN	M	158	ENSP00000320077:V158M	ENSP00000320077:V158M	V	+	1	0	OR4D11	59028096	0.007000	0.16637	0.943000	0.38184	0.920000	0.55202	0.798000	0.27014	0.632000	0.30432	0.557000	0.71058	GTG	OR4D11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176200		0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	HGNC	protein_coding	OTTHUMT00000394236.1	-	0	98	0	G	NM_001004706		59271520	1	tier1	-	no_errors	ENST00000313253	ensembl	human	known	74_37	missense	32.14	57	27	SNP	0.800	A	A	59271520	G	A	59271520	3	1	43	1	0	0	0	0	1	0	0	0	11094	1145	40	1	474	1	OR4D11	11	59271520	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1821553	59271520	75734996	117	10480											
CD248	57124	genome.wustl.edu	37	chr11	66082734	66082734	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtcagagagggctGggcagttgggataatgggaa	9	8	21	3	0	1	1	1	0	0	1	1	4	1	3	0	7	0	3	0	7	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:66082734G>A	ENST00000311330.3	-	1	1781	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	589	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						AGAGAGGGCTGGGCAGTTGGG	0.657																																																	0													125	141	136					11																	66082734		2200	4295	6495	SO:0001587	stop_gained	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1765C>T	11.37:g.66082734G>A	ENSP00000308117:p.Gln589*		Q2M2V5|Q3SX55|Q96KB6	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin	p.Q589*	ENST00000311330.3	37	c.1765	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034652	0.54896	.	.	ENSG00000174807	ENST00000311330	.	.	.	4.32	4.32	0.51571	.	16.400100	0.00757	U	0.001117	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-12.5322	12.1732	0.54169	0.0:0.0:1.0:0.0	.	.	.	.	X	589	.	ENSP00000308117:Q589X	Q	-	1	0	CD248	65839310	0.966000	0.33281	0.756000	0.31282	0.058000	0.15608	4.965000	0.63708	2.222000	0.72286	0.460000	0.39030	CAG	CD248	-	NULL	ENSG00000174807		0.657	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	-	0	46	0	G	NM_020404		66082734	-1	tier1	-	no_errors	ENST00000311330	ensembl	human	known	74_37	nonsense	24.00	19	6	SNP	0.738	A	A	66082734	G	A	66082734	4	1	43	1	0	0	0	0	0	1	0	0	2996	1357	47	3	512	3	CD248	11	66082734	Nonsense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	6811214	66082734	68923782	118	10481											
MRGPRF	116535	genome.wustl.edu	37	chr11	68773432	68773432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacccggcacacgctgcGgatgtagtcggcaaacgtgc	9	5	14	13	5	0	0	0	0	0	0	1	2	0	2	1	4	3	4	1	4	2	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:68773432G>A	ENST00000309099.6	-	3	728	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	MRGPRF_ENST00000441623.1_Missense_Mutation_p.R116C|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	116						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACACGCTGCGGATGTAGTCG	0.677																																																	0													26	24	25					11																	68773432		2173	4261	6434	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.346C>T	11.37:g.68773432G>A	ENSP00000309782:p.Arg116Cys		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R116C	ENST00000309099.6	37	c.346	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805649	0.31961	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.15487	2.42;2.42	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.162245	0.29565	N	0.011788	T	0.08980	0.0222	N	0.11064	0.09	0.40228	D	0.97781	B	0.25441	0.126	B	0.19148	0.024	T	0.27706	-1.0066	10	0.17369	T	0.5	-38.8931	13.1873	0.59688	0.0:0.0:1.0:0.0	.	116	Q96AM1	MRGRF_HUMAN	C	116;116;88	ENSP00000403660:R116C;ENSP00000309782:R116C	ENSP00000309782:R116C	R	-	1	0	MRGPRF	68530008	0.004000	0.15560	0.390000	0.26220	0.126000	0.20510	1.204000	0.32296	2.177000	0.69029	0.561000	0.74099	CGC	MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172935		0.677	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0	99	0	G	NM_145015		68773432	-1	tier1	-	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	23.08	50	15	SNP	0.835	A	A	68773432	G	A	68773432	3	1	43	1	0	0	0	0	1	0	0	0	9803	1116	39	1	689	1	MRGPRF	11	68773432	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	2690698	68773432	66233084	119	10482											
ODZ4	26011	genome.wustl.edu	37	chr11	78387280	78387280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaggttgaggccgttgtCgatgggcagcgtgacattcc	7	9	14	11	3	0	2	0	2	0	0	2	3	1	2	3	3	1	3	3	3	0	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:78387280C>T	ENST00000278550.7	-	30	5875	c.5413G>A	c.(5413-5415)Gac>Aac	p.D1805N		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1805					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGGCCGTTGTCGATGGGCAGC	0.677																																																	0													22	28	26					11																	78387280		2127	4227	6354	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5413G>A	11.37:g.78387280C>T	ENSP00000278550:p.Asp1805Asn		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D1805N	ENST00000278550.7	37	c.5413	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871549	0.91587	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89875	-2.58;0.82	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.92365	0.5900	9	.	.	.	.	18.2069	0.89858	0.0:1.0:0.0:0.0	.	1805	Q6N022	TEN4_HUMAN	N	1805;269	ENSP00000278550:D1805N;ENSP00000431711:D269N	.	D	-	1	0	ODZ4	78064928	1.000000	0.71417	0.994000	0.49952	0.852000	0.48524	7.593000	0.82686	2.584000	0.87258	0.650000	0.86243	GAC	TENM4	-	NULL	ENSG00000149256		0.677	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	158	0	C			78387280	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	46.67	56	49	SNP	1.000	T	T	78387280	C	T	78387280	3	4	43	1	0	0	0	0	1	0	0	0	10876	884	31	1	2916	1	ODZ4	11	78387280	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	9613848	78387280	56619236	120	10483											
MFRP	83552	genome.wustl.edu	37	chr11	119213351	119213351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagttgtcatcgctgccatCggtgcagtctctccacatgt	6	12	10	13	2	2	0	1	0	1	0	6	0	3	0	2	1	2	4	2	1	0	1	rs142846614		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:119213351C>T	ENST00000530681.1	-	11	1486	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	C1QTNF5_ENST00000525657.1_5'Flank|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.D448N|MFRP_ENST00000360167.4_Silent_p.P372P|MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.D448N	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	448	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TCGCTGCCATCGGTGCAGTCT	0.642																																																	0								C	,ASN/ASP	0,4398		0,0,2199	119	108	112		,1342	1.1	0	11	dbSNP_134	112	2,8588	2.2+/-6.3	0,2,4293	no	utr-5,missense	MFRP,C1QTNF5	NM_015645.3,NM_031433.2	,23	0,2,6492	TT,TC,CC		0.0233,0.0,0.0154	,benign	,448/580	119213351	2,12986	2199	4295	6494	SO:0001583	missense	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1342G>A	11.37:g.119213351C>T	ENSP00000456533:p.Asp448Asn		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.D448N	ENST00000530681.1	37	c.1342	CCDS8421.1	11	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276653	0.23307	0.0	2.33E-4	ENSG00000235718	ENST00000555262;ENST00000449574	D;D	0.96554	-4.05;-4.05	4.19	1.09	0.20402	.	0.176302	0.46758	N	0.000265	D	0.91895	0.7434	L	0.60957	1.885	0.09310	N	1	B	0.20671	0.047	B	0.13407	0.009	T	0.78054	-0.2354	10	0.10636	T	0.68	0.1577	6.0311	0.19681	0.0:0.6551:0.1566:0.1883	.	448	Q9BY79	MFRP_HUMAN	N	448	ENSP00000450509:D448N;ENSP00000391664:D448N	ENSP00000391664:D448N	D	-	1	0	MFRP	118718561	0.002000	0.14202	0.000000	0.03702	0.341000	0.28922	1.514000	0.35834	0.099000	0.17552	0.561000	0.74099	GAT	MFRP	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000235718		0.642	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	HGNC	protein_coding	OTTHUMT00000415179.1	-	0	33	0	C	NM_031433		119213351	-1	tier1	rs142846614	no_errors	ENST00000449574	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.028	T	T	119213351	C	T	119213351	3	4	43	1	0	0	0	0	1	0	0	0	9564	884	31	1	409	1	MFRP	11	119213351	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	40826071	119213351	15793165	121	10484											
CDON	50937	genome.wustl.edu	37	chr11	125889553	125889553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttccccggattttatagcGcacctcagctttggggttac	6	15	9	11	2	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	3	7			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:125889553G>T	ENST00000392693.3	-	4	584	c.457C>A	c.(457-459)Cgc>Agc	p.R153S	CDON_ENST00000263577.7_Missense_Mutation_p.R153S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	153	Ig-like C2-type 2.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R153C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATTTTATAGCGCACCTCAGCT	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											132	136	135					11																	125889553		2201	4299	6500	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.457C>A	11.37:g.125889553G>T	ENSP00000376458:p.Arg153Ser		O14631	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R153S	ENST00000392693.3	37	c.457	CCDS58192.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.377756|4.377756	0.82682|0.82682	.|.	.|.	ENSG00000064309|ENSG00000064309	ENST00000534661|ENST00000392693;ENST00000263577;ENST00000531586	.|T;T;T	.|0.59772	.|2.76;2.76;0.24	5.33|5.33	4.42|4.42	0.53409|0.53409	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.53938	.|D	.|0.000041	T|T	0.60728|0.60728	0.2291|0.2291	L|L	0.28649|0.28649	0.875|0.875	0.42091|0.42091	D|D	0.991298|0.991298	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.998;0.996;0.993	T|T	0.55811|0.55811	-0.8082|-0.8082	5|10	.|0.06757	.|T	.|0.87	-18.783|-18.783	14.5518|14.5518	0.68073|0.68073	0.0706:0.0:0.9294:0.0|0.0706:0.0:0.9294:0.0	.|.	.|153;153;153	.|E9PRD8;Q4KMG0;Q4KMG0-2	.|.;CDON_HUMAN;.	E|S	128|153	.|ENSP00000376458:R153S;ENSP00000263577:R153S;ENSP00000434212:R153S	.|ENSP00000263577:R153S	A|R	-|-	2|1	0|0	CDON|CDON	125394763|125394763	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	6.387000|6.387000	0.73191|0.73191	1.384000|1.384000	0.46424|0.46424	-0.215000|-0.215000	0.12644|0.12644	GCG|CGC	CDON	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000064309		0.448	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2		0	78	0	G	NM_016952		125889553	-1			no_errors	ENST00000392693	ensembl	human	known	74_37	missense	5.88	47	3	SNP	1.000	T	T	125889553	G	T	125889553	3	4	43	1	0	0	0	0	1	0	0	0	3177	1087	38	2	3405	2	CDON	11	125889553	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	6676202	125889553	9116963	122	10485											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128839636	128839636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcatggcggctctcCtttccttctgccactgagag	4	13	11	13	1	2	1	0	1	2	1	4	2	3	1	3	3	2	3	3	3	0	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:128839636C>G	ENST00000310343.9	-	22	5429	c.5430G>C	c.(5428-5430)aaG>aaC	p.K1810N	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.K1461N|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.K1461N	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1810	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCGGCTCTCCTTTCCTTCTG	0.582																																																	0													87	84	85					11																	128839636		2201	4297	6498	SO:0001583	missense	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5430G>C	11.37:g.128839636C>G	ENSP00000310561:p.Lys1810Asn		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.K1810N	ENST00000310343.9	37	c.5430	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727953	0.48833	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.13196	2.64;2.61;2.61	6.07	4.19	0.49359	.	0.102638	0.64402	D	0.000005	T	0.21801	0.0525	M	0.66939	2.045	0.43953	D	0.996627	D	0.57899	0.981	P	0.49637	0.617	T	0.00995	-1.1487	10	0.56958	D	0.05	.	9.2544	0.37575	0.0:0.7293:0.0:0.2707	.	1810	A7KAX9	RHG32_HUMAN	N	1810;1461;1461	ENSP00000310561:K1810N;ENSP00000376425:K1461N;ENSP00000432862:K1461N	ENSP00000310561:K1810N	K	-	3	2	ARHGAP32	128344846	0.994000	0.37717	0.981000	0.43875	0.780000	0.44128	0.330000	0.19715	0.879000	0.35944	0.655000	0.94253	AAG	ARHGAP32	-	NULL	ENSG00000134909		0.582	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	68	0	C	NM_014715		128839636	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	missense	51.06	23	24	SNP	1.000	G	G	128839636	C	G	128839636	3	3	43	1	0	0	0	0	1	0	0	0	881	680	24	5	837	5	ARHGAP32	11	128839636	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	2950083	128839636	6166880	123	10486											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128843257	128843257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaacatttttcggaggCggtggtggtgggataagaga	9	9	18	5	3	0	1	0	0	0	1	1	4	0	3	0	7	1	1	0	7	2	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:128843257C>T	ENST00000310343.9	-	21	3101	c.3102G>A	c.(3100-3102)ccG>ccA	p.P1034P	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.P685P|ARHGAP32_ENST00000527272.1_Silent_p.P685P	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1034	Poly-Pro.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTTCGGAGGCGGTGGTGGTG	0.522																																																	0													105	115	111					11																	128843257		2198	4297	6495	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3102G>A	11.37:g.128843257C>T			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.P1034	ENST00000310343.9	37	c.3102	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.522	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	75	0	C	NM_014715		128843257	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	silent	31.67	41	19	SNP	1.000	T	T	128843257	C	T	128843257	2	4	43	1	0	0	0	0	0	0	0	1	881	755	27	1		1	ARHGAP32	11	128843257	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	3621	128843257	6163259	124	10487											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128910853	128910853	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgagttggtcactgactGgggaactttttggttaatta	9	15	11	6	0	1	2	1	2	0	0	1	3	1	3	0	4	1	2	0	4	3	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr11:128910853G>A	ENST00000310343.9	-	10	972	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.Q251*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	325					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTCACTGACTGGGGAACTTTT	0.403																																																	0													85	74	77					11																	128910853		1566	3579	5145	SO:0001587	stop_gained	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.973C>T	11.37:g.128910853G>A	ENSP00000310561:p.Gln325*		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q325*	ENST00000310343.9	37	c.973	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.637262	0.96693	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000356092	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.6837	0.77393	0.0:0.0:1.0:0.0	.	.	.	.	X	325;251;259;35	.	ENSP00000310561:Q325X	Q	-	1	0	ARHGAP32	128416063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.752000	0.85141	2.448000	0.82819	0.591000	0.81541	CAG	ARHGAP32	-	superfamily_SH3_domain	ENSG00000134909		0.403	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	58	0	G	NM_014715		128910853	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	nonsense	24.44	34	11	SNP	1.000	A	A	128910853	G	A	128910853	4	1	43	1	0	0	0	0	0	1	0	0	881	1357	47	3	5342	3	ARHGAP32	11	128910853	Nonsense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	67596	128910853	6095663	125	10488											
RHEBL1	121268	genome.wustl.edu	37	chr12	49459167	49459167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgactccataaatgtcGcaccccaggactctgccagc	11	7	8	15	1	1	2	0	1	1	1	3	3	2	3	4	1	2	1	4	1	2	1	rs201496596		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr12:49459167G>A	ENST00000301068.6	-	7	667	c.428C>T	c.(427-429)gCg>gTg	p.A143V		NM_144593.1	NP_653194.1	Q8TAI7	REBL1_HUMAN	Ras homolog enriched in brain like 1	143					GTP catabolic process (GO:0006184)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|small GTPase mediated signal transduction (GO:0007264)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|large_intestine(2)|lung(5)	9						CATAAATGTCGCACCCCAGGA	0.478																																																	0								G	VAL/ALA	0,4406		0,0,2203	161	143	149		428	5.8	1	12		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHEBL1	NM_144593.1	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	143/184	49459167	1,13005	2203	4300	6503	SO:0001583	missense	0			AK098663	CCDS8778.1	12q13.12	2014-05-09				ENSG00000167550			21166	protein-coding gene	gene with protein product						12477932	Standard	NM_144593		Approved	MGC34869, FLJ25797	uc001rtc.1	Q8TAI7	OTTHUMG00000170407	ENST00000301068.6:c.428C>T	12.37:g.49459167G>A	ENSP00000301068:p.Ala143Val		Q56VH8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A143V	ENST00000301068.6	37	c.428	CCDS8778.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206248	0.79127	0.0	1.16E-4	ENSG00000167550	ENST00000301068	T	0.80123	-1.34	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79828	0.4513	L	0.39397	1.21	0.48452	D	0.999652	D	0.76494	0.999	P	0.52554	0.702	T	0.80928	-0.1163	10	0.66056	D	0.02	.	11.0183	0.47703	0.0844:0.0:0.9156:0.0	.	143	Q8TAI7	REBL1_HUMAN	V	143	ENSP00000301068:A143V	ENSP00000301068:A143V	A	-	2	0	RHEBL1	47745434	0.965000	0.33210	0.960000	0.40013	0.929000	0.56500	2.469000	0.45110	2.757000	0.94681	0.655000	0.94253	GCG	RHEBL1	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000167550		0.478	RHEBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHEBL1	HGNC	protein_coding	OTTHUMT00000408969.1	-	0	105	0	G	NM_144593		49459167	-1	tier1	rs201496596	no_errors	ENST00000301068	ensembl	human	known	74_37	missense	48.94	24	23	SNP	0.929	A	A	49459167	G	A	49459167	3	1	43	1	0	0	0	0	1	0	0	0	13374	1087	38	1	131	1	RHEBL1	12	49459167	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		49459167	84392728	126	10489											
DPY19L2	283417	genome.wustl.edu	37	chr12	64055262	64055263	+	Splice_Site	INS	-	-	T																															agtatgaataataaagtcccINStttttttaaaaaaagacata																								rs565018|rs202064990		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr12:64055262_64055263insT	ENST00000324472.4	-	4	634		c.e4-1		RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAAGTCCCTTTTTTTAAAA	0.257																																																	0																																										SO:0001630	splice_region_variant	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.451-1->A	12.37:g.64055269_64055269dupT			A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Splice_Site	INS	-	e4-1	ENST00000324472.4	37	c.451-2_451-1	CCDS31851.1	12																																																																																			DPY19L2	-	-	ENSG00000177990		0.257	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2		0	84	0	-	NM_173812	Intron	64055263	-1	tier1		no_errors	ENST00000324472	ensembl	human	known	74_37	splice_site_ins	33.33	58	29	INS	1.000:0.999	T	T	64055263	-	T	64055262	8	5	43	1	0	1	1	0	0	0	1	0	4755	695	24	0	1902	0	DPY19L2	12	64055262	Splice_Site	INS	-	TCGA-JY-A93C-01A-11D-A387-09	14596095	64055262	69796633	127	10490											
SRRM4	84530	genome.wustl.edu	37	chr12	119588991	119588991	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccagggcttcccccaggTacacccaaagccgatccacc	10	5	7	19	1	0	0	0	0	0	0	3	1	3	0	7	2	2	2	7	2	2	2	rs550324165		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr12:119588991T>G	ENST00000267260.4	+	10	1634	c.1246T>G	c.(1246-1248)Tac>Gac	p.Y416D		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	416	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TTCCCCCAGGTACACCCAAAG	0.532																																																	0													73	74	74					12																	119588991		1929	4125	6054	SO:0001583	missense	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1246T>G	12.37:g.119588991T>G	ENSP00000267260:p.Tyr416Asp		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	NULL	p.Y416D	ENST00000267260.4	37	c.1246	CCDS44994.1	12	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190744	0.58017	.	.	ENSG00000139767	ENST00000267260	T	0.24723	1.84	5.58	4.36	0.52297	.	0.352817	0.30667	N	0.009126	T	0.29716	0.0742	L	0.43152	1.355	0.34366	D	0.691496	P	0.49783	0.928	P	0.51135	0.66	T	0.36407	-0.9749	9	.	.	.	-12.2553	10.563	0.45156	0.1436:0.0:0.0:0.8564	.	416	A7MD48	SRRM4_HUMAN	D	416	ENSP00000267260:Y416D	.	Y	+	1	0	SRRM4	118073374	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.210000	0.65214	2.239000	0.73571	0.533000	0.62120	TAC	SRRM4	-	NULL	ENSG00000139767		0.532	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	-	0	46	0	T	NM_194286		119588991	1	tier1	-	no_errors	ENST00000267260	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	G	G	119588991	T	G	119588991	3	3	43	1	0	0	0	0	1	0	0	0	15218	1638	57	4	1284	4	SRRM4	12	119588991	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	55533729	119588991	14262904	128	10491											
RNF10	9921	genome.wustl.edu	37	chr12	121001268	121001268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagcagtgtctgaacCagagcctgaggggttgccag	10	6	17	8	0	1	3	0	2	1	1	1	5	1	5	3	4	4	2	3	4	2	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr12:121001268C>A	ENST00000325954.4	+	9	1834	c.1373C>A	c.(1372-1374)cCa>cAa	p.P458Q	RNF10_ENST00000413266.2_Missense_Mutation_p.P463Q	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	458					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P458R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTCTGAACCAGAGCCTGAG	0.522																																																	1	Substitution - Missense(1)	lung(1)											77	79	78					12																	121001268		2203	4300	6503	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1373C>A	12.37:g.121001268C>A	ENSP00000322242:p.Pro458Gln		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P463Q	ENST00000325954.4	37	c.1388	CCDS9201.1	12	.	.	.	.	.	.	.	.	.	.	C	7.856	0.725095	0.15439	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T	0.45668	0.89;0.89	5.69	2.3	0.28687	.	1.056640	0.07279	N	0.870365	T	0.30448	0.0765	L	0.29908	0.895	0.09310	N	1	B;B	0.20671	0.047;0.047	B;B	0.21360	0.034;0.015	T	0.25916	-1.0118	10	0.15066	T	0.55	.	9.3483	0.38122	0.0:0.6999:0.0:0.3001	.	463;458	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	Q	458;458;463;4	ENSP00000322242:P458Q;ENSP00000415682:P463Q	ENSP00000322242:P458Q	P	+	2	0	RNF10	119485651	0.276000	0.24211	0.789000	0.31954	0.800000	0.45204	0.236000	0.17967	0.695000	0.31675	0.650000	0.86243	CCA	RNF10	-	NULL	ENSG00000022840		0.522	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4		0	28	0	C			121001268	1			no_errors	ENST00000413266	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.055	A	A	121001268	C	A	121001268	3	1	43	1	0	0	0	0	1	0	0	0	13467	594	21	3	1407	3	RNF10	12	121001268	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	1412277	121001268	12850627	129	10492											
PABPC3	5042	genome.wustl.edu	37	chr13	25670411	25670411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccccgacgtgactgaggcGatgctctacgagaagttcag	10	7	12	12	4	2	3	1	2	1	1	2	6	2	3	2	1	2	2	2	1	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr13:25670411G>A	ENST00000281589.3	+	1	112	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	25	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGACTGAGGCGATGCTCTACG	0.637																																																	0													75	72	73					13																	25670411		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.75G>A	13.37:g.25670411G>A			Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.A25	ENST00000281589.3	37	c.75	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.637	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	-	0	108	0	G	NM_030979		25670411	1	tier1	-	no_errors	ENST00000281589	ensembl	human	known	74_37	silent	14.29	66	11	SNP	0.997	A	A	25670411	G	A	25670411	2	1	43	1	0	0	0	0	0	0	0	1	11404	1045	37	1		1	PABPC3	13	25670411	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		25670411	89499467	130	10493											
DGKH	160851	genome.wustl.edu	37	chr13	42784739	42784739	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatattgactttaaataggCctttgagagcactctgaaat	14	13	7	7	0	1	3	0	3	1	1	1	4	1	3	1	1	1	1	1	1	6	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr13:42784739C>T	ENST00000337343.4	+	24	2873	c.2852C>T	c.(2851-2853)gCc>gTc	p.A951V	DGKH_ENST00000540693.1_Splice_Site_p.A951V|DGKH_ENST00000261491.5_Splice_Site_p.A951V|DGKH_ENST00000538674.1_Splice_Site_p.A706V|DGKH_ENST00000379274.2_Splice_Site_p.A815V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Splice_Site_p.A815V	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	951					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTAAATAGGCCTTTGAGAGC	0.368																																																	0													89	83	85					13																	42784739		2203	4300	6503	SO:0001630	splice_region_variant	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2851-1C>T	13.37:g.42784739C>T			A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A951V	ENST00000337343.4	37	c.2852	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981585	0.74474	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;T;D;T;T;T	0.81579	-1.51;-1.34;-1.51;-1.49;-1.49;1.73	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84397	0.5463	M	0.83118	2.625	0.80722	D	1	B;B;B;B	0.21147	0.047;0.039;0.052;0.005	B;B;B;B	0.29942	0.109;0.068;0.081;0.037	T	0.82430	-0.0461	10	0.48119	T	0.1	.	18.9347	0.92580	0.0:1.0:0.0:0.0	.	706;815;951;951	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	V	951;951;951;815;815;706	ENSP00000440823:A951V;ENSP00000337572:A951V;ENSP00000261491:A951V;ENSP00000368576:A815V;ENSP00000445114:A815V;ENSP00000441308:A706V	ENSP00000261491:A951V	A	+	2	0	DGKH	41682739	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.641000	0.83368	2.554000	0.86153	0.563000	0.77884	GCC	DGKH	-	NULL	ENSG00000102780		0.368	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	-	0	72	0	C	NM_178009	Missense_Mutation	42784739	1	tier1	-	no_errors	ENST00000337343	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	42784739	C	T	42784739	5	4	43	1	0	0	0	0	0	0	1	0	4484	753	26	3	2946	3	DGKH	13	42784739	Splice_Site	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	17114328	42784739	72385139	131	10494											
KLF12	11278	genome.wustl.edu	37	chr13	74420344	74420344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatggaaactggggaggatGaaacggcagtaggggacgtc	12	6	17	6	2	1	1	1	1	0	0	2	5	1	5	0	7	2	2	0	7	3	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr13:74420344G>A	ENST00000377669.2	-	3	316	c.290C>T	c.(289-291)tCa>tTa	p.S97L	KLF12_ENST00000377666.4_Missense_Mutation_p.S97L|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	97					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGGGGAGGATGAAACGGCAGT	0.502																																																	0													180	132	148					13																	74420344		2203	4300	6503	SO:0001583	missense	0			AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.290C>T	13.37:g.74420344G>A	ENSP00000366897:p.Ser97Leu		A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S97L	ENST00000377669.2	37	c.290	CCDS9449.1	13	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890140	0.52014	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01464	4.86;4.86	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.03390	0.0098	L	0.61218	1.895	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.52351	-0.8587	10	0.11182	T	0.66	.	19.5289	0.95219	0.0:0.0:1.0:0.0	.	97	Q9Y4X4	KLF12_HUMAN	L	97	ENSP00000366897:S97L;ENSP00000366894:S97L	ENSP00000344057:S97L	S	-	2	0	KLF12	73318345	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.275000	0.72594	2.865000	0.98341	0.655000	0.94253	TCA	KLF12	-	NULL	ENSG00000118922		0.502	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF12	HGNC	protein_coding	OTTHUMT00000045271.2	-	0	125	0	G	NM_007249		74420344	-1	tier1	-	no_errors	ENST00000377666	ensembl	human	known	74_37	missense	45.45	54	45	SNP	1.000	A	A	74420344	G	A	74420344	3	1	43	1	0	0	0	0	1	0	0	0	8367	1294	45	3	938	3	KLF12	13	74420344	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	31635605	74420344	40749534	132	10495											
GCH1	2643	genome.wustl.edu	37	chr14	55312530	55312530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggccgcaaggcttcCgtgattgctacagcaatttg	9	9	11	12	2	0	1	0	1	0	0	1	1	1	1	3	2	4	5	3	2	3	4	rs199836777	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr14:55312530C>T	ENST00000491895.2	-	5	770	c.582G>A	c.(580-582)acG>acA	p.T194T	GCH1_ENST00000395514.1_Silent_p.T194T|GCH1_ENST00000543643.2_Silent_p.T194T|GCH1_ENST00000536224.2_Silent_p.T194T|GCH1_ENST00000254299.4_5'UTR	NM_000161.2	NP_000152.1	P30793	GCH1_HUMAN	GTP cyclohydrolase 1	194					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|dopamine biosynthetic process (GO:0042416)|GTP catabolic process (GO:0006184)|metabolic process (GO:0008152)|negative regulation of blood pressure (GO:0045776)|neuromuscular process controlling posture (GO:0050884)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric-oxide synthase activity (GO:0051000)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|pteridine-containing compound biosynthetic process (GO:0042559)|regulation of blood pressure (GO:0008217)|regulation of lung blood pressure (GO:0014916)|regulation of nitric-oxide synthase activity (GO:0050999)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to pain (GO:0048265)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|tetrahydrofolate biosynthetic process (GO:0046654)|vasodilation (GO:0042311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|coenzyme binding (GO:0050662)|GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(2)|lung(7)|skin(2)	11						GCAAGGCTTCCGTGATTGCTA	0.478													C|||	2	0.000399361	0	0.0014	5008	,	,		20572	0		0	False		,,,				2504	0.001				Pancreas(198;1245 2204 4807 21567 38372)												0								C	,,,	0,4406		0,0,2203	126	116	120		582,582,582,582	-0.6	1	14		120	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GCH1	NM_000161.2,NM_001024024.1,NM_001024070.1,NM_001024071.1	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	194/251,194/251,194/234,194/214	55312530	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			U19523	CCDS9720.1, CCDS41954.1, CCDS45110.1	14q22.1-q22.2	2014-04-01	2008-08-01		ENSG00000131979	ENSG00000131979	3.5.4.16		4193	protein-coding gene	gene with protein product	"dopa-responsive dystonia"	600225	"dystonia 14"	GCH, DYT5, DYT14		7874165, 8695054	Standard	XM_005267530		Approved	GTPCH1, DYT5a	uc001xbi.1	P30793	OTTHUMG00000029754	ENST00000491895.2:c.582G>A	14.37:g.55312530C>T			Q6FHY7|Q9Y4I8	Silent	SNP	pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I	p.T194	ENST00000491895.2	37	c.582	CCDS9720.1	14																																																																																			GCH1	-	pfam_GTP_CycHdrlase_I_dom,tigrfam_GTP_CycHdrlase_I	ENSG00000131979		0.478	GCH1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	GCH1	HGNC	protein_coding	OTTHUMT00000276895.3		0	46	0	C			55312530	-1			no_errors	ENST00000395514	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.997	T	T	55312530	C	T	55312530	2	4	43	1	0	0	0	0	0	0	0	1	6316	639	23	1		1	GCH1	14	55312530	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09		55312530	52037010	133	10496											
PSMA3	5684	genome.wustl.edu	37	chr14	58734209	58734209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagatgaaagaaatgacctgCcgtgatatcgttaaagaagt	16	10	10	5	2	0	6	0	3	0	3	1	6	0	6	2	0	1	1	2	0	7	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr14:58734209C>T	ENST00000216455.4	+	8	651	c.561C>T	c.(559-561)tgC>tgT	p.C187C	RP11-349A22.5_ENST00000554360.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|PSMA3_ENST00000412908.2_Silent_p.C180C|PSMA3_ENST00000557508.1_Silent_p.C112C|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	187					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AAATGACCTGCCGTGATATCG	0.264																																																	0													52	56	54					14																	58734209		2203	4290	6493	SO:0001819	synonymous_variant	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.561C>T	14.37:g.58734209C>T			B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.C187	ENST00000216455.4	37	c.561	CCDS9731.1	14																																																																																			PSMA3	-	pfam_Proteasome_sua/b	ENSG00000100567		0.264	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1	-	0	129	0	C	NM_002788		58734209	1	tier1	-	no_errors	ENST00000216455	ensembl	human	known	74_37	silent	36.52	73	42	SNP	1.000	T	T	58734209	C	T	58734209	2	4	43	1	0	0	0	0	0	0	0	1	12710	747	26	3		3	PSMA3	14	58734209	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	3421679	58734209	48615331	134	10497											
SYNE2	23224	genome.wustl.edu	37	chr14	64608788	64608790	+	In_Frame_Del	DEL	TCT	TCT	-																															tctgcatctcaagttaaacaTcttcttcagaagcacaaggt																								rs368230785	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr14:64608788_64608790delTCT	ENST00000344113.4	+	82	15500_15502	c.15288_15290delTCT	c.(15286-15291)catctt>cat	p.L5098del	SYNE2_ENST00000555002.1_In_Frame_Del_p.L1732del|SYNE2_ENST00000358025.3_In_Frame_Del_p.L5098del|SYNE2_ENST00000394768.2_In_Frame_Del_p.L1483del|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_In_Frame_Del_p.L5015del|SYNE2_ENST00000357395.3_In_Frame_Del_p.L1483del	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5098					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTTAAACATCTTCTTCAGAAG	0.404														16	0.00319489	0.0113	0	5008	,	,		19858	0		0.001	False		,,,				2504	0																0									,	44,4220		0,44,2088					,	-4.5	0			87	1,8253		0,1,4126	no	coding,coding	SYNE2	NM_182914.2,NM_015180.4	,	0,45,6214	A1A1,A1R,RR		0.0121,1.0319,0.3595	,	,		45,12473				SO:0001651	inframe_deletion	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.15288_15290delTCT	14.37:g.64608791_64608793delTCT	ENSP00000341781:p.Leu5098del		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	In_Frame_Del	DEL	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5098in_frame_del	ENST00000344113.4	37	c.15288_15290	CCDS41963.1	14																																																																																			SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.404	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0	57	0	TCT	NM_182914		64608790	1	tier1		no_errors	ENST00000358025	ensembl	human	known	74_37	in_frame_del	8.33	33	3	DEL	0.000:0.995:1.000	-	-	64608790	TCT	-	64608788	7	5	43	1	0	1	0	1	0	0	0	0	15493	1432	50	0	15610	0	SYNE2	14	64608788	In_Frame_Del	DEL	TCT	TCGA-JY-A93C-01A-11D-A387-09	5874579	64608788	42740752	135	10498											
TTC8	123016	genome.wustl.edu	37	chr14	89305916	89305916	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctatagctcaagttccaCgtaagtattgggttttcagt	10	15	9	7	1	2	0	2	0	0	0	3	0	3	0	1	1	2	6	1	1	5	8			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr14:89305916C>T	ENST00000345383.5	+	2	319	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	TTC8_ENST00000346301.4_Splice_Site_p.R79C|TTC8_ENST00000380656.2_Splice_Site_p.R89C|TTC8_ENST00000338104.6_Splice_Site_p.R79C|TTC8_ENST00000536576.1_5'UTR|Y_RNA_ENST00000384612.1_RNA|TTC8_ENST00000358622.5_5'Flank|TTC8_ENST00000354441.6_Intron	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	89					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCAAGTTCCACGTAAGTATTG	0.323																																																	0													114	115	115					14																	89305916		2203	4300	6503	SO:0001630	splice_region_variant	0			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.235+1C>T	14.37:g.89305916C>T			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R79C	ENST00000345383.5	37	c.235	CCDS9885.1	14	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738902	0.69304	.	.	ENSG00000165533	ENST00000343648;ENST00000345383;ENST00000346301;ENST00000338104;ENST00000380656;ENST00000556651	D;D;D;D	0.86030	-1.75;-2.06;-1.99;-1.79	6.02	6.02	0.97574	.	0.054606	0.64402	D	0.000001	D	0.94192	0.8136	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.999;1.0;0.999	D;P;D;D;D	0.75020	0.962;0.859;0.985;0.911;0.948	D	0.94335	0.7565	10	0.87932	D	0	-5.1313	20.547	0.99278	0.0:1.0:0.0:0.0	.	89;79;89;79;89	Q8TAM2;G3V2Z9;Q8TAM2-3;G3V324;Q8TAM2-4	TTC8_HUMAN;.;.;.;.	C	132;79;79;79;89;79	ENSP00000339486:R79C;ENSP00000298324:R79C;ENSP00000337653:R79C;ENSP00000370031:R89C	ENSP00000337653:R79C	R	+	1	0	TTC8	88375669	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.599000	0.67592	2.850000	0.98022	0.650000	0.86243	CGC	TTC8	-	NULL	ENSG00000165533		0.323	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410861.1	-	0	55	0	C	NM_144596	Missense_Mutation	89305916	1	tier1	-	no_errors	ENST00000338104	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	89305916	C	T	89305916	5	4	43	1	0	0	0	0	0	0	1	0	16763	550	19	1	275	1	TTC8	14	89305916	Splice_Site	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	24697128	89305916	18043624	136	10499											
FAM181A	90050	genome.wustl.edu	37	chr14	94394682	94394682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacttcgtgaacctggcGtccagcgacatcaaggcagc	10	7	11	13	3	1	2	1	2	0	0	3	3	2	2	2	2	4	1	2	2	3	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr14:94394682G>A	ENST00000267594.5	+	3	544	c.237G>A	c.(235-237)gcG>gcA	p.A79A	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000556222.1_Silent_p.A17A|FAM181A_ENST00000557000.2_Silent_p.A17A|FAM181A_ENST00000557719.1_Silent_p.A17A	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	79										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGAACCTGGCGTCCAGCGACA	0.597																																																	0													80	70	74					14																	94394682		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 152"	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.237G>A	14.37:g.94394682G>A			B2RD39|Q96GY1	Silent	SNP	NULL	p.A79	ENST00000267594.5	37	c.237	CCDS9914.1	14																																																																																			FAM181A	-	NULL	ENSG00000140067		0.597	FAM181A-001	KNOWN	basic|CCDS	protein_coding	FAM181A	HGNC	protein_coding	OTTHUMT00000412840.1	-	0	65	0	G	NM_138344		94394682	1	tier1	-	no_errors	ENST00000267594	ensembl	human	known	74_37	silent	33.33	26	13	SNP	0.071	A	A	94394682	G	A	94394682	2	1	43	1	0	0	0	0	0	0	0	1	5527	1132	40	1		1	FAM181A	14	94394682	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	5088766	94394682	12954858	137	10500											
CYFIP1	23191	genome.wustl.edu	37	chr15	22940818	22940818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatgcgcttcatttcGgagctggcgcgctacagcaa	9	8	11	13	4	1	0	1	0	0	0	2	2	1	1	1	2	4	4	1	2	2	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr15:22940818G>A	ENST00000313077.7	+	11	1208	c.1083G>A	c.(1081-1083)tcG>tcA	p.S361S	CYFIP1_ENST00000560848.1_Silent_p.S361S	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTTCATTTCGGAGCTGGCGC	0.607																																																	0													50	38	42					15																	22940818		2203	4300	6503	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1083G>A	15.37:g.22940818G>A				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.S361	ENST00000313077.7	37	c.1083	CCDS10009.1	15																																																																																			CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.607	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2		0	36	0	G	NM_014608		22940818	1			no_errors	ENST00000313077	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.006	A	A	22940818	G	A	22940818	2	1	43	1	0	0	0	0	0	0	0	1	4146	1103	39	1		1	CYFIP1	15	22940818	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		22940818	79590574	138	10501											
MTMR10	54893	genome.wustl.edu	37	chr15	31235188	31235188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagggtgcgatcctttgCtgtaaactggagagaccagt	12	9	13	7	1	0	1	0	0	0	1	1	5	1	2	2	2	3	2	2	2	4	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr15:31235188C>T	ENST00000435680.1	-	15	1733	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	546	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CGATCCTTTGCTGTAAACTGG	0.413																																																	0													77	79	79					15																	31235188		1864	4077	5941	SO:0001583	missense	0			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1636G>A	15.37:g.31235188C>T	ENSP00000402537:p.Ala546Thr		Q6P4Q6	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.A546T	ENST00000435680.1	37	c.1636	CCDS45204.1	15	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016556	0.35606	.	.	ENSG00000166912	ENST00000435680	D	0.89939	-2.59	6.06	5.14	0.70334	Myotubularin phosphatase domain (1);	.	.	.	.	D	0.83473	0.5262	L	0.47716	1.5	0.36202	D	0.850823	B	0.13594	0.008	B	0.06405	0.002	T	0.79836	-0.1635	9	0.15952	T	0.53	.	11.1357	0.48373	0.0:0.796:0.1307:0.0733	.	546	Q9NXD2	MTMRA_HUMAN	T	546	ENSP00000402537:A546T	ENSP00000402537:A546T	A	-	1	0	MTMR10	29022480	0.895000	0.30542	0.537000	0.28052	0.966000	0.64601	1.137000	0.31479	1.556000	0.49512	0.655000	0.94253	GCA	MTMR10	-	NULL	ENSG00000166912		0.413	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	HGNC	protein_coding	OTTHUMT00000430747.1	-	0	97	0	C	NM_017762		31235188	-1	tier1	-	no_errors	ENST00000435680	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.387	T	T	31235188	C	T	31235188	3	4	43	1	0	0	0	0	1	0	0	0	9977	797	28	3	705	3	MTMR10	15	31235188	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	8294370	31235188	71296204	139	10502											
TEKT5	146279	genome.wustl.edu	37	chr16	10788356	10788356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgtcagctggtccttGtcctgcaagagcctcatgga	6	11	13	11	1	2	1	2	0	0	1	4	2	4	2	3	3	4	2	3	3	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr16:10788356G>T	ENST00000283025.2	-	1	446	c.375C>A	c.(373-375)gaC>gaA	p.D125E	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	125						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCTGGTCCTTGTCCTGCAAGA	0.647																																																	0													82	88	86					16																	10788356		2197	4300	6497	SO:0001583	missense	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.375C>A	16.37:g.10788356G>T	ENSP00000283025:p.Asp125Glu		A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.D125E	ENST00000283025.2	37	c.375	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	.	9.218	1.032529	0.19590	.	.	ENSG00000153060	ENST00000283025	T	0.01725	4.67	5.4	3.43	0.39272	.	0.000000	0.64402	D	0.000004	T	0.01061	0.0035	N	0.16708	0.43	0.47094	D	0.999319	B	0.06786	0.001	B	0.13407	0.009	T	0.44436	-0.9328	10	0.05833	T	0.94	-41.9236	4.843	0.13500	0.2598:0.1574:0.5827:0.0	.	125	Q96M29	TEKT5_HUMAN	E	125	ENSP00000283025:D125E	ENSP00000283025:D125E	D	-	3	2	TEKT5	10695857	0.996000	0.38824	1.000000	0.80357	0.964000	0.63967	0.240000	0.18042	0.737000	0.32582	0.650000	0.86243	GAC	TEKT5	-	pfam_Tektin	ENSG00000153060		0.647	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	-	0	53	0	G	NM_144674		10788356	-1	tier1	-	no_errors	ENST00000283025	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	10788356	G	T	10788356	3	4	43	1	0	0	0	0	1	0	0	0	15803	1368	48	3	1110	3	TEKT5	16	10788356	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		10788356	79566397	140	10503											
RABEP2	79874	genome.wustl.edu	37	chr16	28919949	28919949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcacagagctgggcagtGattcctcctcgccctgctcc	5	9	11	16	1	0	2	0	1	0	1	4	2	3	2	4	2	2	4	4	2	0	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr16:28919949G>A	ENST00000358201.4	-	8	1814	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	RABEP2_ENST00000357573.6_Missense_Mutation_p.S377L|RABEP2_ENST00000544477.1_Missense_Mutation_p.S338L	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	409					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GCTGGGCAGTGATTCCTCCTC	0.642																																					Pancreas(66;639 1284 10093 31061 49099)												0													64	69	68					16																	28919949		2012	4184	6196	SO:0001583	missense	0			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1226C>T	16.37:g.28919949G>A	ENSP00000350934:p.Ser409Leu			Missense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.S409L	ENST00000358201.4	37	c.1226	CCDS42140.1	16	.	.	.	.	.	.	.	.	.	.	G	2.102	-0.405931	0.04832	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.45668	0.89;0.89;0.89	4.78	1.56	0.23342	Rabaptin, GTPase-Rab5 binding (1);	1.807570	0.03956	N	0.289379	T	0.33789	0.0875	L	0.38175	1.15	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.28235	-1.0050	10	0.59425	D	0.04	-0.005	4.3743	0.11263	0.197:0.0:0.6265:0.1764	.	338;377;409	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	L	409;377;338	ENSP00000350934:S409L;ENSP00000350186:S377L;ENSP00000442798:S338L	ENSP00000350186:S377L	S	-	2	0	RABEP2	28827450	0.000000	0.05858	0.005000	0.12908	0.023000	0.10783	-0.089000	0.11180	0.445000	0.26639	0.462000	0.41574	TCA	RABEP2	-	pfam_Rabaptin_Rab5-bd_dom	ENSG00000177548		0.642	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RABEP2	HGNC	protein_coding	OTTHUMT00000432691.1	-	0	59	0	G	NM_024816		28919949	-1	tier1	-	no_errors	ENST00000358201	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.003	A	A	28919949	G	A	28919949	3	1	43	1	0	0	0	0	1	0	0	0	13007	1294	45	3	507	3	RABEP2	16	28919949	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	18131593	28919949	61434804	141	10504											
SALL1	6299	genome.wustl.edu	37	chr16	51175536	51175536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaccttggtgctctggagGttctcgatgatgacgttgct	5	13	13	10	2	2	2	0	2	2	0	3	4	2	3	2	3	2	4	2	3	0	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr16:51175536G>T	ENST00000251020.4	-	2	630	c.597C>A	c.(595-597)aaC>aaA	p.N199K	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.N102K|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	199					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTCTGGAGGTTCTCGATGA	0.607																																					GBM(103;1352 1446 1855 4775 8890)												0													93	90	91					16																	51175536		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.597C>A	16.37:g.51175536G>T	ENSP00000251020:p.Asn199Lys		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N199K	ENST00000251020.4	37	c.597	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983339	0.53827	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06218	3.35;3.33	5.37	3.37	0.38596	.	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	L	0.56769	1.78	0.54753	D	0.999985	D	0.67145	0.996	P	0.54815	0.761	T	0.01136	-1.1440	10	0.56958	D	0.05	.	10.6579	0.45686	0.2183:0.0:0.7817:0.0	.	199	Q9NSC2	SALL1_HUMAN	K	199;102;163	ENSP00000251020:N199K;ENSP00000407914:N102K	ENSP00000251020:N199K	N	-	3	2	SALL1	49733037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.103000	0.41806	1.217000	0.43442	0.561000	0.74099	AAC	SALL1	-	NULL	ENSG00000103449		0.607	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	85	0	G	NM_002968		51175536	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	51175536	G	T	51175536	3	4	43	1	0	0	0	0	1	0	0	0	13855	1252	44	3	3385	3	SALL1	16	51175536	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	22255587	51175536	39179217	142	10505											
C16orf48	84080	genome.wustl.edu	37	chr16	67697103	67697103	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactttgggccgagaaaaGatcttgatggcctcctctac	11	10	10	10	1	2	4	0	1	2	3	3	5	3	4	3	2	1	0	3	2	4	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr16:67697103G>A	ENST00000243878.4	-	7	1323	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ENKD1_ENST00000602644.1_3'UTR|ACD_ENST00000219251.8_5'Flank	NM_032140.1	NP_115516.1	Q9H0I2	ENKD1_HUMAN	enkurin domain containing 1	334	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					cytoplasmic microtubule (GO:0005881)|microtubule cytoskeleton (GO:0015630)											GCCGAGAAAAGATCTTGATGG	0.597																																																	0													96	79	85					16																	67697103		2198	4300	6498	SO:0001819	synonymous_variant	0			BC008284	CCDS10844.1	16q22.1	2012-10-09	2012-10-09	2012-10-09	ENSG00000124074	ENSG00000124074			25246	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 48"	C16orf48		11230166	Standard	NM_032140		Approved	DKFZP434A1319	uc002etw.1	Q9H0I2	OTTHUMG00000137550	ENST00000243878.4:c.1002C>T	16.37:g.67697103G>A			Q6UWD7	Silent	SNP	NULL	p.I334	ENST00000243878.4	37	c.1002	CCDS10844.1	16																																																																																			ENKD1	-	NULL	ENSG00000124074		0.597	ENKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENKD1	HGNC	protein_coding	OTTHUMT00000268884.1	-	0	68	0	G	NM_032140		67697103	-1	tier1	-	no_errors	ENST00000243878	ensembl	human	known	74_37	silent	54.55	20	24	SNP	0.999	A	A	67697103	G	A	67697103	2	1	43	1	0	0	0	0	0	0	0	1	1821	932	33	3		3	C16orf48	16	67697103	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	16521567	67697103	22657650	143	10506											
ZNF23	7571	genome.wustl.edu	37	chr16	71482560	71482560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttcccattaacgctgaaGgcctttccacactcattaca	11	12	5	13	1	1	1	1	1	0	0	3	1	3	1	3	1	2	2	3	1	3	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr16:71482560G>A	ENST00000393539.2	-	6	2181	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	ZNF23_ENST00000417828.1_Silent_p.A456A|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Silent_p.A398A|ZNF23_ENST00000428724.2_Silent_p.A398A|ZNF23_ENST00000357254.4_Silent_p.A456A	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TAACGCTGAAGGCCTTTCCAC	0.443																																																	0													60	61	61					16																	71482560		2198	4300	6498	SO:0001819	synonymous_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1368C>T	16.37:g.71482560G>A			Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A456	ENST00000393539.2	37	c.1368	CCDS10900.1	16																																																																																			ZNF23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.443	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	0	119	0	G	NM_145911		71482560	-1	tier1	-	no_errors	ENST00000357254	ensembl	human	known	74_37	silent	71.43	12	30	SNP	1.000	A	A	71482560	G	A	71482560	2	1	43	1	0	0	0	0	0	0	0	1	17831	987	35	3		3	ZNF23	16	71482560	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3785457	71482560	18872193	144	10507											
FBXO31	79791	genome.wustl.edu	37	chr16	87380786	87380786	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccgggacttaccaccacGttcagcagtcctccgtatgg	7	9	10	15	3	1	0	1	0	0	0	4	1	4	1	5	2	2	4	5	2	2	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr16:87380786G>A	ENST00000311635.7	-	3	495	c.483C>T	c.(481-483)aaC>aaT	p.N161N		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	161					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TTACCACCACGTTCAGCAGTC	0.557																																																	0													193	171	179					16																	87380786		2198	4300	6498	SO:0001819	synonymous_variant	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.483C>T	16.37:g.87380786G>A			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.N161	ENST00000311635.7	37	c.483	CCDS32501.1	16																																																																																			FBXO31	-	NULL	ENSG00000103264		0.557	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	-	0	39	0	G	NM_024735		87380786	-1	tier1	-	no_errors	ENST00000311635	ensembl	human	known	74_37	silent	76.47	4	13	SNP	0.998	A	A	87380786	G	A	87380786	2	1	43	1	0	0	0	0	0	0	0	1	5763	1136	40	1		1	FBXO31	16	87380786	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	15898226	87380786	2973967	145	10508											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	65	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	80.00	11	44	SNP	1.000	T	T	7577538	C	T	7577538	3	4	43	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09		7577538	73617672	146	10509											
MYH8	4626	genome.wustl.edu	37	chr17	10298754	10298754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttcttcatgttcaagaGatgccttaacaaaacagtga	13	13	6	9	0	3	2	2	1	1	1	4	3	4	2	2	0	3	1	2	0	4	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:10298754G>C	ENST00000403437.2	-	34	4752	c.4658C>G	c.(4657-4659)tCt>tGt	p.S1553C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1553					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGTTCAAGAGATGCCTTAAC	0.368									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													60	54	56					17																	10298754		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4658C>G	17.37:g.10298754G>C	ENSP00000384330:p.Ser1553Cys		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1553C	ENST00000403437.2	37	c.4658	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435459	0.83885	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78816	-1.21	4.66	4.66	0.58398	Myosin tail (1);	0.000000	0.40728	U	0.001040	D	0.85588	0.5731	M	0.82630	2.6	0.53688	D	0.999977	P	0.47677	0.899	P	0.51657	0.676	D	0.88560	0.3122	10	0.87932	D	0	.	17.7273	0.88369	0.0:0.0:1.0:0.0	.	1553	P13535	MYH8_HUMAN	C	1553	ENSP00000384330:S1553C	ENSP00000252173:S1553C	S	-	2	0	MYH8	10239479	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	9.231000	0.95317	2.414000	0.81942	0.650000	0.86243	TCT	MYH8	-	pfam_Myosin_tail,superfamily_t-SNARE	ENSG00000133020		0.368	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	-	0	60	0	G	NM_002472		10298754	-1	tier1	-	no_errors	ENST00000403437	ensembl	human	known	74_37	missense	20.25	63	16	SNP	1.000	C	C	10298754	G	C	10298754	3	2	43	1	0	0	0	0	1	0	0	0	10079	942	33	5	1183	5	MYH8	17	10298754	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	2721216	10298754	70896456	147	10510											
MYO15A	51168	genome.wustl.edu	37	chr17	18034622	18034622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaacgacaactccagcCgctttgggaagtttgtggaa	11	9	12	9	2	1	0	1	0	0	0	2	4	2	3	2	3	3	2	2	3	4	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:18034622C>T	ENST00000205890.5	+	9	4446	c.4108C>T	c.(4108-4110)Cgc>Tgc	p.R1370C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1370	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAACTCCAGCCGCTTTGGGAA	0.547																																																	0													68	72	70					17																	18034622		1969	4192	6161	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4108C>T	17.37:g.18034622C>T	ENSP00000205890:p.Arg1370Cys		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R1370C	ENST00000205890.5	37	c.4108	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269633	0.59540	.	.	ENSG00000091536	ENST00000205890	D	0.98280	-4.84	5.22	5.22	0.72569	Myosin head, motor domain (3);	.	.	.	.	D	0.99293	0.9753	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98730	1.0712	9	0.87932	D	0	.	12.5453	0.56195	0.2768:0.7232:0.0:0.0	.	1370	Q9UKN7	MYO15_HUMAN	C	1370	ENSP00000205890:R1370C	ENSP00000205890:R1370C	R	+	1	0	MYO15A	17975347	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.455000	0.44988	2.445000	0.82738	0.491000	0.48974	CGC	MYO15A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000091536		0.547	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	105	0	C	NM_016239		18034622	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	37.65	53	32	SNP	1.000	T	T	18034622	C	T	18034622	3	4	43	1	0	0	0	0	1	0	0	0	10101	652	23	1	4134	1	MYO15A	17	18034622	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	7735868	18034622	63160588	148	10511											
SMCR8	140775	genome.wustl.edu	37	chr17	18219589	18219589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttatatctctgcagaccaGcataaaatcatgcagcagtt	13	11	7	10	0	2	1	1	0	1	1	3	1	2	1	1	0	4	6	1	0	4	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:18219589G>T	ENST00000406438.3	+	1	966	c.486G>T	c.(484-486)caG>caT	p.Q162H	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	162						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGCAGACCAGCATAAAATCA	0.527																																																	0													55	58	57					17																	18219589		2203	4300	6503	SO:0001583	missense	0			AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.486G>T	17.37:g.18219589G>T	ENSP00000385025:p.Gln162His		A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	pfam_Folliculin	p.Q162H	ENST00000406438.3	37	c.486	CCDS11195.2	17	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141815	0.57044	.	.	ENSG00000176994	ENST00000406438	D	0.88818	-2.43	5.87	2.37	0.29283	.	0.054049	0.64402	D	0.000001	D	0.88709	0.6510	L	0.34521	1.04	0.38636	D	0.951495	D	0.54397	0.966	P	0.58331	0.837	D	0.89474	0.3745	10	0.66056	D	0.02	-35.4296	12.4591	0.55721	0.2129:0.0:0.7871:0.0	.	162	Q8TEV9	SMCR8_HUMAN	H	162	ENSP00000385025:Q162H	ENSP00000385025:Q162H	Q	+	3	2	SMCR8	18160314	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.765000	0.55272	0.824000	0.34613	0.655000	0.94253	CAG	SMCR8	-	pfam_Folliculin	ENSG00000176994		0.527	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCR8	HGNC	protein_coding	OTTHUMT00000132065.2	-	0	71	0	G	NM_144775		18219589	1	tier1	-	no_errors	ENST00000406438	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	18219589	G	T	18219589	3	4	43	1	0	0	0	0	1	0	0	0	14837	962	34	3	488	3	SMCR8	17	18219589	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	184967	18219589	62975621	149	10512											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319388	21319388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggagggcgagtacatccCgctggaccagatcgacatcg	10	5	14	12	5	0	1	0	0	0	1	3	6	1	3	2	3	1	2	2	3	1	1	rs140875968	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:21319388C>T	ENST00000583088.1	+	3	1629	c.734C>T	c.(733-735)cCg>cTg	p.P245L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.P245L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	245					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GAGTACATCCCGCTGGACCAG	0.612										Prostate(3;0.18)																																							0								C	LEU/PRO	0,4406		0,0,2203	122	89	100		734	5.3	1	17	dbSNP_134	100	7,8593	2.2+/-6.3	0,7,4293	yes	missense	KCNJ12	NM_021012.4	98	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	245/434	21319388	7,12999	2203	4300	6503	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.734C>T	17.37:g.21319388C>T	ENSP00000463778:p.Pro245Leu		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.P245L	ENST00000583088.1	37	c.734	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720594	0.89205	0.0	8.14E-4	ENSG00000184185	ENST00000331718	D	0.91521	-2.86	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.95620	0.8576	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95974	0.8972	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	245	Q14500	IRK12_HUMAN	L	245	ENSP00000328150:P245L	ENSP00000328150:P245L	P	+	2	0	KCNJ12	21259981	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	CCG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	126	0	C	NM_021012		21319388	1	tier1	rs140875968	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	10.81	99	12	SNP	1.000	T	T	21319388	C	T	21319388	3	4	43	1	0	0	0	0	1	0	0	0	8073	652	23	1	736	1	KCNJ12	17	21319388	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	3099799	21319388	59875822	150	10513											
KCNH4	23415	genome.wustl.edu	37	chr17	40331008	40331008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagacgatgggaaagcccCgtgtgccctgtgcgttggcc	7	8	15	11	3	0	1	0	0	0	1	0	3	0	2	4	2	3	2	4	2	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:40331008C>A	ENST00000264661.3	-	2	445	c.113G>T	c.(112-114)cGg>cTg	p.R38L	KCNH4_ENST00000607371.1_Missense_Mutation_p.R38L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	38	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAAAGCCCCGTGTGCCCTG	0.612																																					NSCLC(117;707 1703 2300 21308 31858)												0													69	60	63					17																	40331008		2203	4300	6503	SO:0001583	missense	0			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.113G>T	17.37:g.40331008C>A	ENSP00000264661:p.Arg38Leu			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R38L	ENST00000264661.3	37	c.113	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609362	0.46527	.	.	ENSG00000089558	ENST00000264661	D	0.98684	-5.07	4.52	2.54	0.30619	PAS (2);	0.000000	0.37178	N	0.002209	D	0.96166	0.8750	N	0.13235	0.315	0.09310	N	0.999998	P	0.44380	0.834	P	0.50231	0.635	D	0.92087	0.5677	10	0.41790	T	0.15	.	8.9423	0.35738	0.0:0.8283:0.0:0.1717	.	38	Q9UQ05	KCNH4_HUMAN	L	38	ENSP00000264661:R38L	ENSP00000264661:R38L	R	-	2	0	KCNH4	37584534	0.003000	0.15002	0.996000	0.52242	0.692000	0.40212	1.079000	0.30766	0.546000	0.28920	-0.373000	0.07131	CGG	KCNH4	-	superfamily_PAS,pfscan_PAS	ENSG00000089558		0.612	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	-	0	60	0	C	NM_012285		40331008	-1	tier1	-	no_errors	ENST00000264661	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.068	A	A	40331008	C	A	40331008	3	1	43	1	0	0	0	0	1	0	0	0	8061	652	23	2	3000	2	KCNH4	17	40331008	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	19011620	40331008	40864202	151	10514											
IMP5	162540	genome.wustl.edu	37	chr17	43922723	43922723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagacctcaccatccctgtgGctatgctccactatgctgac	8	10	7	16	0	1	2	1	1	0	1	3	2	3	2	4	1	2	3	4	1	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:43922723G>T	ENST00000329196.5	+	1	468	c.451G>T	c.(451-453)Gct>Tct	p.A151S	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	151	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CATCCCTGTGGCTATGCTCCA	0.642																																																	0													68	57	61					17																	43922723		2203	4300	6503	SO:0001583	missense	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.451G>T	17.37:g.43922723G>T	ENSP00000332488:p.Ala151Ser		Q8TC67|Q8WVZ6	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.A151S	ENST00000329196.5	37	c.451	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822273	0.50739	.	.	ENSG00000185294	ENST00000329196	T	0.08193	3.12	4.65	4.65	0.58169	Protease-associated domain, PA (1);	0.000000	0.43919	D	0.000518	T	0.30978	0.0782	M	0.85542	2.76	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.07139	-1.0788	10	0.87932	D	0	-19.843	12.8955	0.58098	0.0:0.0:1.0:0.0	.	151	Q8IUH8	IMP5_HUMAN	S	151	ENSP00000332488:A151S	ENSP00000332488:A151S	A	+	1	0	AC217771.1	41278503	1.000000	0.71417	0.951000	0.38953	0.031000	0.12232	7.743000	0.85020	2.409000	0.81822	0.655000	0.94253	GCT	SPPL2C	-	pfam_Protease-assoc_domain	ENSG00000185294		0.642	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1		0	78	0	G	NM_175882		43922723	1			no_errors	ENST00000329196	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	43922723	G	T	43922723	3	4	43	1	0	0	0	0	1	0	0	0	7748	1203	42	3	453	3	IMP5	17	43922723	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3591715	43922723	37272487	152	10515											
NPEPPS	9520	genome.wustl.edu	37	chr17	45695743	45695743	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagcagatatgcaagaaGagaaaaaccgaatcgaaaga	23	3	9	6	2	0	4	0	0	0	4	1	7	0	4	1	0	4	2	1	0	9	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:45695743G>T	ENST00000322157.4	+	20	2560	c.2323G>T	c.(2323-2325)Gag>Tag	p.E775*	NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.E771*|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.E695*|RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	775					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TATGCAAGAAGAGAAAAACCG	0.388																																																	0													95	92	93					17																	45695743		1831	4090	5921	SO:0001587	stop_gained	0			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"puromycin-sensitive aminopeptidase", "metalloproteinase MP100"	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2323G>T	17.37:g.45695743G>T	ENSP00000320324:p.Glu775*		B7Z463|Q6P145|Q9NP16|Q9UEM2	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.E775*	ENST00000322157.4	37	c.2323	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.252522	0.98727	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000544660;ENST00000528565	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7774	0.96400	0.0:0.0:1.0:0.0	.	.	.	.	X	771;775;695;10	.	ENSP00000320324:E775X	E	+	1	0	NPEPPS	43050742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.841000	0.99482	2.771000	0.95319	0.650000	0.86243	GAG	NPEPPS	-	NULL	ENSG00000141279		0.388	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	-	0	97	0	G	NM_006310		45695743	1	tier1	-	no_errors	ENST00000322157	ensembl	human	known	74_37	nonsense	48.00	26	24	SNP	1.000	T	T	45695743	G	T	45695743	4	4	43	1	0	0	0	0	0	1	0	0	10614	943	33	3	2401	3	NPEPPS	17	45695743	Nonsense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1773020	45695743	35499467	153	10516											
KPNB1	3837	genome.wustl.edu	37	chr17	45738512	45738512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcactttattatgcaggtgGtctgtgaagccacacagtgt	9	12	12	8	0	1	1	0	1	1	0	1	1	1	1	1	3	2	2	1	3	3	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:45738512G>A	ENST00000290158.4	+	6	1071	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000535458.2_Missense_Mutation_p.V77I|KPNB1_ENST00000540627.1_Missense_Mutation_p.V77I|KPNB1_ENST00000537679.1_Missense_Mutation_p.V77I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	222					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TATGCAGGTGGTCTGTGAAGC	0.383																																																	0													122	114	117					17																	45738512		2203	4300	6503	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.664G>A	17.37:g.45738512G>A	ENSP00000290158:p.Val222Ile		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.V222I	ENST00000290158.4	37	c.664	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813152	0.70912	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77671	0.4165	M	0.62723	1.935	0.39478	D	0.967836	P;P	0.42123	0.771;0.5	P;B	0.54372	0.75;0.05	T	0.71735	-0.4503	9	0.30854	T	0.27	-4.6913	20.2983	0.98569	0.0:0.0:1.0:0.0	.	77;222	F5H4R7;Q14974	.;IMB1_HUMAN	I	77;222;77;77	ENSP00000438253:V77I;ENSP00000290158:V222I;ENSP00000438964:V77I;ENSP00000445006:V77I	ENSP00000290158:V222I	V	+	1	0	KPNB1	43093511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.575000	0.98187	2.802000	0.96397	0.655000	0.94253	GTC	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.383	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	-	0	81	0	G	NM_002265		45738512	1	tier1	-	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	A	A	45738512	G	A	45738512	3	1	43	1	0	0	0	0	1	0	0	0	8462	1261	44	3	686	3	KPNB1	17	45738512	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	42769	45738512	35456698	154	10517											
OTOP3	347741	genome.wustl.edu	37	chr17	72943349	72943349	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacatcgctcagaacctcTtcatcatcgagggcctgcac	10	8	8	15	2	4	1	3	0	1	1	6	2	4	1	2	1	3	3	2	1	1	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr17:72943349T>C	ENST00000328801.4	+	6	1399	c.1399T>C	c.(1399-1401)Ttc>Ctc	p.F467L		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	467						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCAGAACCTCTTCATCATCGA	0.642																																																	0													46	43	44					17																	72943349		2203	4300	6503	SO:0001583	missense	0			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1399T>C	17.37:g.72943349T>C	ENSP00000328090:p.Phe467Leu			Missense_Mutation	SNP	pfam_Otopetrin	p.F467L	ENST00000328801.4	37	c.1399	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	T	26.5	4.739826	0.89573	.	.	ENSG00000182938	ENST00000328801	T	0.34472	1.36	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.64416	0.2596	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72211	-0.4359	10	0.87932	D	0	-20.0745	13.8706	0.63617	0.0:0.0:0.0:1.0	.	467	Q7RTS5	OTOP3_HUMAN	L	467	ENSP00000328090:F467L	ENSP00000328090:F467L	F	+	1	0	OTOP3	70454944	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.982000	0.88131	1.684000	0.51022	0.379000	0.24179	TTC	OTOP3	-	pfam_Otopetrin	ENSG00000182938		0.642	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	-	0	40	0	T	NM_178233		72943349	1	tier1	-	no_errors	ENST00000328801	ensembl	human	known	74_37	missense	54.55	15	18	SNP	1.000	C	C	72943349	T	C	72943349	3	2	43	1	0	0	0	0	1	0	0	0	11346	1609	56	4	1421	4	OTOP3	17	72943349	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	27204837	72943349	8251861	155	10518											
ZNF521	25925	genome.wustl.edu	37	chr18	22806976	22806976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctccccgctatgcacCtgctccatgtggttcatgag	5	14	8	14	1	3	1	1	1	2	0	5	1	4	1	4	1	2	4	4	1	1	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr18:22806976C>A	ENST00000361524.3	-	4	1054	c.906G>T	c.(904-906)caG>caT	p.Q302H	ZNF521_ENST00000584787.1_Missense_Mutation_p.Q82H|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q302H|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	302					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CGCTATGCACCTGCTCCATGT	0.552			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													114	108	110					18																	22806976		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.906G>T	18.37:g.22806976C>A	ENSP00000354794:p.Gln302His		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q302H	ENST00000361524.3	37	c.906	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	8.134	0.783704	0.16189	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09350	2.99;3.02	6.02	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.31371	0.925	0.37605	D	0.920701	B	0.18013	0.025	B	0.27715	0.082	T	0.09228	-1.0684	10	0.72032	D	0.01	-32.7903	10.766	0.46295	0.0:0.8011:0.1309:0.0681	.	302	Q96K83	ZN521_HUMAN	H	302;336;302	ENSP00000354794:Q302H;ENSP00000382352:Q302H	ENSP00000354794:Q302H	Q	-	3	2	ZNF521	21060974	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.498000	0.45363	1.570000	0.49709	-0.136000	0.14681	CAG	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.552	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	67	0	C	NM_015461		22806976	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	59.38	13	19	SNP	1.000	A	A	22806976	C	A	22806976	3	1	43	1	0	0	0	0	1	0	0	0	18013	680	24	3	3049	3	ZNF521	18	22806976	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09		22806976	55270272	156	10519											
ME2	4200	genome.wustl.edu	37	chr18	48466002	48466002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacagtgttttcctagaaGctgcaaaggtaaatgtttta	12	14	10	5	0	0	2	0	1	0	1	1	2	1	2	1	1	2	5	1	1	6	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr18:48466002G>T	ENST00000321341.5	+	14	1752	c.1480G>T	c.(1480-1482)Gct>Tct	p.A494S	ME2_ENST00000382927.3_Intron|ME2_ENST00000585680.1_Intron	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	494					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		TTTCCTAGAAGCTGCAAAGGT	0.323																																																	0													101	100	100					18																	48466002		2203	4300	6503	SO:0001583	missense	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1480G>T	18.37:g.48466002G>T	ENSP00000321070:p.Ala494Ser		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.A494S	ENST00000321341.5	37	c.1480	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124975	0.56613	.	.	ENSG00000082212	ENST00000321341	T	0.61274	0.12	5.22	5.22	0.72569	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	L	0.51853	1.615	0.80722	D	1	B	0.10296	0.003	B	0.35240	0.198	T	0.56372	-0.7990	10	0.35671	T	0.21	-11.5192	17.5378	0.87837	0.0:0.0:1.0:0.0	.	494	P23368	MAOM_HUMAN	S	494	ENSP00000321070:A494S	ENSP00000321070:A494S	A	+	1	0	ME2	46720000	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.195000	0.72088	2.440000	0.82611	0.467000	0.42956	GCT	ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000082212		0.323	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	-	0	113	0	G	NM_002396		48466002	1	tier1	-	no_errors	ENST00000321341	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	48466002	G	T	48466002	3	4	43	1	0	0	0	0	1	0	0	0	9456	971	34	3	1530	3	ME2	18	48466002	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	25659026	48466002	29611246	157	10520											
SMAD4	4089	genome.wustl.edu	37	chr18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacccttctggaggagatCgcttttgtttgggtcaactc	6	14	12	9	1	2	1	1	0	1	1	4	4	2	3	1	4	1	2	1	4	1	4	rs80338963		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																																	43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963						179	149	159					18																	48591918		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R361C	ENST00000342988.3	37	c.1081	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	121	0	C	NM_005359		48591918	1	tier1	rs80338963	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	61.54	19	32	SNP	1.000	T	T	48591918	C	T	48591918	3	4	43	1	0	0	0	0	1	0	0	0	14805	884	31	1	1111	1	SMAD4	18	48591918	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	125916	48591918	29485330	158	10521											
KHSRP	8570	genome.wustl.edu	37	chr19	6416853	6416853	+	Frame_Shift_Del	DEL	G	G	-																															ttcctcggcctcggccccccGggggcatgcctggaccccct																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:6416853delG	ENST00000398148.3	-	13	1315	c.1223delC	c.(1222-1224)ccgfs	p.P408fs	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	408	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.P408L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCGGCCCCCCGGGGGCATGCC	0.652																																					Colon(55;593 1006 2067 9135 22980)												1	Substitution - Missense(1)	large_intestine(1)											15	18	17					19																	6416853		1895	4104	5999	SO:0001589	frameshift_variant	0			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"FUSE binding protein 2"	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.1223delC	19.37:g.6416853delG	ENSP00000381216:p.Pro408fs		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.P408fs	ENST00000398148.3	37	c.1223	CCDS45936.1	19																																																																																			KHSRP	-	NULL	ENSG00000088247		0.652	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHSRP	HGNC	protein_coding	OTTHUMT00000453305.1		0	127	0	G			6416853	-1	tier1		no_errors	ENST00000398148	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.998	-	-	6416853	G	-	6416853	7	5	43	1	0	1	0	1	0	0	0	0	8178	1116	39	0	944	0	KHSRP	19	6416853	Frame_Shift_Del	DEL	G	TCGA-JY-A93C-01A-11D-A387-09		6416853	52712130	159	10522											
DNMT1	1786	genome.wustl.edu	37	chr19	10257175	10257175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctttttgcctcatctcagCcagacgggcacagctcacac	8	11	7	15	1	4	1	3	0	2	1	5	1	4	1	2	1	3	2	2	1	0	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:10257175C>T	ENST00000340748.4	-	27	2933	c.2698G>A	c.(2698-2700)Gct>Act	p.A900T	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.A900T|DNMT1_ENST00000359526.4_Missense_Mutation_p.A916T			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	900					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CTCATCTCAGCCAGACGGGCA	0.567																																																	0													57	57	57					19																	10257175		2203	4300	6503	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2698G>A	19.37:g.10257175C>T	ENSP00000345739:p.Ala900Thr		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.A916T	ENST00000340748.4	37	c.2746	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010121	0.35415	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23147	1.92;1.92;1.92	5.52	5.52	0.82312	.	0.447213	0.24871	N	0.034932	T	0.26340	0.0643	L	0.48362	1.52	0.35765	D	0.820443	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.11329	0.006;0.006;0.002	T	0.15809	-1.0424	10	0.21540	T	0.41	.	18.2103	0.89868	0.0:1.0:0.0:0.0	.	900;916;900	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	T	916;900;900;768	ENSP00000352516:A916T;ENSP00000440457:A900T;ENSP00000345739:A900T	ENSP00000345739:A900T	A	-	1	0	DNMT1	10118175	0.999000	0.42202	0.965000	0.40720	0.993000	0.82548	3.740000	0.55082	2.590000	0.87494	0.655000	0.94253	GCT	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk	ENSG00000130816		0.567	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1		0	93	0	C	NM_001379		10257175	-1			no_errors	ENST00000359526	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.894	T	T	10257175	C	T	10257175	3	4	43	1	0	0	0	0	1	0	0	0	4689	739	26	3	2208	3	DNMT1	19	10257175	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	3840322	10257175	48871808	160	10523											
CYP4F2	8529	genome.wustl.edu	37	chr19	15990223	15990223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttctctgggtcaaagcGaaaggggtcgtagacctgga	10	9	15	7	2	2	1	1	0	1	1	4	4	2	2	1	4	1	2	1	4	3	2	rs142113670	byFrequency	TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:15990223G>T	ENST00000221700.6	-	12	1425	c.1330C>A	c.(1330-1332)Cgc>Agc	p.R444S		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGGTCAAAGCGAAAGGGGTCG	0.577																																																	0													117	121	120					19																	15990223		2203	4300	6503	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1330C>A	19.37:g.15990223G>T	ENSP00000221700:p.Arg444Ser			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R444S	ENST00000221700.6	37	c.1330	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	g	14.43	2.532414	0.45073	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	D	0.90504	-2.68	3.05	1.97	0.26223	.	0.000000	0.64402	U	0.000006	D	0.96231	0.8771	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95136	0.8259	10	0.87932	D	0	.	9.1712	0.37083	0.0:0.0:0.7805:0.2195	.	444	P78329	CP4F2_HUMAN	S	444;295	ENSP00000221700:R444S	ENSP00000221700:R444S	R	-	1	0	CYP4F2	15851223	1.000000	0.71417	0.981000	0.43875	0.328000	0.28507	3.392000	0.52537	0.571000	0.29365	0.491000	0.48974	CGC	CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000186115		0.577	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	-	0	87	0	G	NM_001082		15990223	-1	tier1	-	no_errors	ENST00000221700	ensembl	human	known	74_37	missense	54.63	49	59	SNP	0.994	T	T	15990223	G	T	15990223	3	4	43	1	0	0	0	0	1	0	0	0	4197	1058	37	2	240	2	CYP4F2	19	15990223	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	5733048	15990223	43138760	161	10524											
UNC13A	23025	genome.wustl.edu	37	chr19	17758177	17758177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggtcaccgcgaagatCtcctggatgagctcgaagat	9	10	12	10	3	3	3	1	1	2	2	5	6	3	4	2	2	1	1	2	2	2	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:17758177C>A	ENST00000519716.2	-	17	1940	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D	UNC13A_ENST00000552293.1_Missense_Mutation_p.E647D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E647D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E647D|UNC13A_ENST00000428389.2_Missense_Mutation_p.E735D|UNC13A_ENST00000550896.1_Missense_Mutation_p.E645D	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	647					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.E647D(1)|p.E735D(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCGCGAAGATCTCCTGGATGA	0.602																																																	2	Substitution - Missense(2)	lung(2)											68	73	72					19																	17758177		2150	4272	6422	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1941G>T	19.37:g.17758177C>A	ENSP00000429562:p.Glu647Asp		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.E735D	ENST00000519716.2	37	c.2205	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	6.617	0.482295	0.12581	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	3.76	3.76	0.43208	.	0.132009	0.49305	U	0.000149	T	0.42966	0.1226	L	0.31664	0.95	0.29039	N	0.88522	B	0.09022	0.002	B	0.08055	0.003	T	0.21348	-1.0248	10	0.12766	T	0.61	-26.0515	7.5586	0.27839	0.0:0.8771:0.0:0.1229	.	647	Q9UPW8	UN13A_HUMAN	D	647;735;647;647;647;645	ENSP00000429562:E647D;ENSP00000400409:E735D;ENSP00000252773:E647D;ENSP00000447236:E647D;ENSP00000447572:E647D;ENSP00000446831:E645D	ENSP00000252773:E647D	E	-	3	2	UNC13A	17619177	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.075000	0.30716	1.812000	0.52913	0.313000	0.20887	GAG	UNC13A	-	NULL	ENSG00000130477		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0	30	0	C	XM_038604		17758177	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	17758177	C	A	17758177	3	1	43	1	0	0	0	0	1	0	0	0	17033	912	32	3	3278	3	UNC13A	19	17758177	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	1767954	17758177	41370806	162	10525											
ZNF208	7757	genome.wustl.edu	37	chr19	22156812	22156812	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccacattctttacattTgtagggcttctctccagcat	7	17	6	11	0	2	0	0	0	2	0	4	0	3	0	2	1	3	3	2	1	2	7			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:22156812T>G	ENST00000397126.4	-	4	1172	c.1024A>C	c.(1024-1026)Aaa>Caa	p.K342Q	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTTTACATTTGTAGGGCTTC	0.398																																																	0													47	48	48					19																	22156812		2038	4198	6236	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1024A>C	19.37:g.22156812T>G	ENSP00000380315:p.Lys342Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K342Q	ENST00000397126.4	37	c.1024	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534137	0.27475	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.08370	3.1	2.65	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04318	0.0119	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.42899	-0.9424	8	0.38643	T	0.18	.	0.7357	0.00965	0.1589:0.2678:0.278:0.2954	.	342	O43345	ZN208_HUMAN	Q	342	ENSP00000380315:K342Q	ENSP00000380315:K342Q	K	-	1	0	ZNF208	21948652	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.110000	0.00293	0.030000	0.15379	0.254000	0.18369	AAA	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.398	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	107	0	T	NM_007153		22156812	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	50.46	53	55	SNP	0.000	G	G	22156812	T	G	22156812	3	3	43	1	0	0	0	0	1	0	0	0	17814	1821	63	4	2822	4	ZNF208	19	22156812	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	4398635	22156812	36972171	163	10526											
ZNF676	163223	genome.wustl.edu	37	chr19	22364151	22364151	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgaatttgaacatttaTgaaagacgtttgcatatttg	12	18	8	3	1	0	4	0	3	0	1	0	4	0	4	0	0	2	3	0	0	5	7			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:22364151T>A	ENST00000397121.2	-	3	685	c.368A>T	c.(367-369)cAt>cTt	p.H123L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TGAACATTTATGAAAGACGTT	0.333																																																	0													137	130	132					19																	22364151		1988	4196	6184	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.368A>T	19.37:g.22364151T>A	ENSP00000380310:p.His123Leu		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H123L	ENST00000397121.2	37	c.368	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	4.008	-0.001202	0.07819	.	.	ENSG00000196109	ENST00000397121	T	0.26518	1.73	0.63	-1.26	0.09376	.	.	.	.	.	T	0.13200	0.0320	L	0.42245	1.32	0.09310	N	1	P	0.37864	0.61	B	0.31751	0.135	T	0.23511	-1.0186	9	0.12103	T	0.63	.	1.9827	0.03429	0.2664:0.2107:0.0:0.5229	.	123	Q8N7Q3	ZN676_HUMAN	L	123	ENSP00000380310:H123L	ENSP00000380310:H123L	H	-	2	0	ZNF676	22155991	0.242000	0.23868	0.001000	0.08648	0.152000	0.21847	0.010000	0.13242	-0.522000	0.06417	0.156000	0.16432	CAT	ZNF676	-	NULL	ENSG00000196109		0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	156	0	T	NM_001001411		22364151	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	8.84	227	22	SNP	0.007	A	A	22364151	T	A	22364151	3	1	43	1	0	0	0	0	1	0	0	0	18131	1464	51	5	1402	5	ZNF676	19	22364151	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09	207339	22364151	36764832	164	10527											
CEBPA	1050	genome.wustl.edu	37	chr19	33792456	33792456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatgttgttgcgctcgcGccgcacccggtactcgttgc	3	10	13	15	8	0	0	0	0	0	0	2	1	0	0	2	1	3	6	2	1	1	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:33792456G>A	ENST00000498907.2	-	1	1014	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	289	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					TTGCGCTCGCGCCGCACCCGG	0.677			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	2	Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(2)											40	41	40					19																	33792456		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.865C>T	19.37:g.33792456G>A	ENSP00000427514:p.Arg289Cys		A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.R289C	ENST00000498907.2	37	c.865	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022251	0.75275	.	.	ENSG00000245848	ENST00000498907	T	0.71934	-0.61	4.7	4.7	0.59300	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	.	.	.	.	D	0.88089	0.6343	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90975	0.4823	9	0.87932	D	0	.	11.8248	0.52261	0.0:0.0:0.8248:0.1752	.	289	P49715	CEBPA_HUMAN	C	289	ENSP00000427514:R289C	ENSP00000427514:R289C	R	-	1	0	CEBPA	38484296	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.078000	0.50096	2.133000	0.65898	0.462000	0.41574	CGC	CEBPA	-	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	ENSG00000245848		0.677	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	HGNC	protein_coding	OTTHUMT00000365012.1		0	87	0	G	NM_004364		33792456	-1			no_errors	ENST00000498907	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	33792456	G	A	33792456	3	1	43	1	0	0	0	0	1	0	0	0	3206	1087	38	1	215	1	CEBPA	19	33792456	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	11428305	33792456	25336527	165	10528											
ZNF234	10780	genome.wustl.edu	37	chr19	44662023	44662023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttcatcagagtgtccaCacaggagagaaaccatacaa	17	6	7	11	0	2	2	2	0	0	2	3	4	3	3	2	1	3	0	2	1	4	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:44662023C>T	ENST00000426739.2	+	6	2112	c.1854C>T	c.(1852-1854)caC>caT	p.H618H	ZNF234_ENST00000592437.1_Silent_p.H618H	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGAGTGTCCACACAGGAGAGA	0.463																																																	0													135	143	140					19																	44662023		2197	4298	6495	SO:0001819	synonymous_variant	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1854C>T	19.37:g.44662023C>T			A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H618	ENST00000426739.2	37	c.1854	CCDS46101.1	19																																																																																			ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000263002		0.463	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0	94	0	C			44662023	1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	silent	39.34	37	24	SNP	1.000	T	T	44662023	C	T	44662023	2	4	43	1	0	0	0	0	0	0	0	1	17835	477	17	3		3	ZNF234	19	44662023	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	10869567	44662023	14466960	166	10529											
LMTK3	114783	genome.wustl.edu	37	chr19	49003083	49003083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtgggggccggggaggccGctcggagagcaagtaggtga	7	4	22	8	4	0	2	0	1	0	1	1	4	0	3	2	8	1	3	2	8	2	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr19:49003083G>A	ENST00000600059.1	-	11	1470	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	LMTK3_ENST00000270238.3_Missense_Mutation_p.R444W			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	415					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGGGAGGCCGCTCGGAGAGC	0.701																																																	0													4	5	4					19																	49003083		1780	3952	5732	SO:0001583	missense	0			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1243C>T	19.37:g.49003083G>A	ENSP00000472020:p.Arg415Trp		Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R444W	ENST00000600059.1	37	c.1330		19	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329061	0.60743	.	.	ENSG00000142235	ENST00000270238	T	0.77489	-1.1	3.42	3.42	0.39159	Protein kinase-like domain (1);	0.131912	0.28088	N	0.016658	T	0.68403	0.2997	N	0.08118	0	0.28884	N	0.894253	D	0.89917	1.0	P	0.60012	0.867	T	0.61347	-0.7081	10	0.37606	T	0.19	.	6.8129	0.23814	0.1301:0.0:0.8699:0.0	.	415	Q96Q04	LMTK3_HUMAN	W	444	ENSP00000270238:R444W	ENSP00000270238:R444W	R	-	1	2	LMTK3	53694895	1.000000	0.71417	0.998000	0.56505	0.722000	0.41435	0.815000	0.27253	1.944000	0.56390	0.400000	0.26472	CGG	LMTK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom	ENSG00000142235		0.701	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	-	0	75	0	G	NM_052895		49003083	-1	tier1	-	no_errors	ENST00000270238	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	49003083	G	A	49003083	3	1	43	1	0	0	0	0	1	0	0	0	8890	1086	38	1	3159	1	LMTK3	19	49003083	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	4341060	49003083	10125900	167	10530											
RRBP1	6238	genome.wustl.edu	37	chr20	17599256	17599256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaccagggcaagctcatcGctctgtttctgggcttcgct	5	12	10	14	2	3	0	1	0	2	0	5	0	3	0	2	2	2	6	2	2	2	3	rs371408403		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr20:17599256G>A	ENST00000377813.1	-	20	4047	c.3744C>T	c.(3742-3744)agC>agT	p.S1248S	RRBP1_ENST00000360807.4_Silent_p.S815S|RRBP1_ENST00000377807.2_Silent_p.S815S|RRBP1_ENST00000246043.4_Silent_p.S1248S|RRBP1_ENST00000455029.2_Silent_p.S589S|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1248					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAAGCTCATCGCTCTGTTTCT	0.562																																																	0								G	,	0,4406		0,0,2203	94	84	87		2445,2445	-0.5	0	20		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	RRBP1	NM_001042576.1,NM_004587.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	815/978,815/978	17599256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3744C>T	20.37:g.17599256G>A			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.S1248	ENST00000377813.1	37	c.3744		20																																																																																			RRBP1	-	NULL	ENSG00000125844		0.562	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	-	0	48	0	G	NM_001042576		17599256	-1	tier1	-	no_errors	ENST00000246043	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.052	A	A	17599256	G	A	17599256	2	1	43	1	0	0	0	0	0	0	0	1	13723	1078	38	1		1	RRBP1	20	17599256	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		17599256	45426264	168	10531											
TP53INP2	58476	genome.wustl.edu	37	chr20	33297285	33297285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagagcccgggtccccttccCcgctcccggacgcggccctg	3	6	12	20	5	0	1	0	0	0	1	3	2	3	2	7	3	1	1	7	3	1	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr20:33297285C>A	ENST00000374810.3	+	4	759	c.370C>A	c.(370-372)Ccg>Acg	p.P124T	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Missense_Mutation_p.P124T	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	124					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						GTCCCCTTCCCCGCTCCCGGA	0.701																																																	0													23	23	23					20																	33297285		2193	4290	6483	SO:0001583	missense	0			AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"diabetes and obesity regulated"		"chromosome 20 open reading frame 110"	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.370C>A	20.37:g.33297285C>A	ENSP00000363943:p.Pro124Thr		A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Missense_Mutation	SNP	NULL	p.P124T	ENST00000374810.3	37	c.370	CCDS13240.1	20	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530697	0.45073	.	.	ENSG00000078804	ENST00000374810;ENST00000374809;ENST00000451665	.	.	.	4.77	3.76	0.43208	.	0.364940	0.26700	N	0.022944	T	0.25606	0.0623	N	0.22421	0.69	0.27754	N	0.944069	B	0.26258	0.145	B	0.29176	0.099	T	0.13845	-1.0494	9	0.11182	T	0.66	-8.0031	9.4208	0.38550	0.2121:0.7879:0.0:0.0	.	124	Q8IXH6	T53I2_HUMAN	T	124;124;84	.	ENSP00000363942:P124T	P	+	1	0	TP53INP2	32760946	0.993000	0.37304	0.863000	0.33907	0.777000	0.43975	2.251000	0.43187	2.207000	0.71202	0.462000	0.41574	CCG	TP53INP2	-	NULL	ENSG00000078804		0.701	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP2	HGNC	protein_coding	OTTHUMT00000078807.2		0	98	0	C	NM_021202		33297285	1			no_errors	ENST00000374809	ensembl	human	known	74_37	missense	5.15	92	5	SNP	0.698	A	A	33297285	C	A	33297285	3	1	43	1	0	0	0	0	1	0	0	0	16437	623	22	3	376	3	TP53INP2	20	33297285	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	15698029	33297285	29728235	169	10532											
KCNK15	140730	genome.wustl.edu	37	chr20	43379101	43379101	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatcggcttcggcgacttCgtggcactgcagagcggcga	7	7	14	13	6	0	1	0	0	0	1	3	3	0	1	1	4	2	3	1	4	0	2	rs575724831		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr20:43379101C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.F205F	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCGGCGACTTCGTGGCACTGC	0.637																																																	0													73	67	69					20																	43379101		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379101C>T			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	p.F205	ENST00000372851.3	37	c.615	CCDS13338.1	20																																																																																			KCNK15	-	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	ENSG00000124249		0.637	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNK15	HGNC	protein_coding	OTTHUMT00000101027.2		0	46	0	C	NM_182970		43379101	1			no_errors	ENST00000372861	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.998	T	T	43379101	C	T	43379101	1	4	43	0	1	0	0	0	0	0	0	0	8089	883	31	1		1	KCNK15	20	43379101	IGR	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	10081816	43379101	19646419	170	10533											
TFAP2C	7022	genome.wustl.edu	37	chr20	55212825	55212825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacttctcagccaagaccGgacaccccatgggaccagca	13	4	9	15	1	1	2	1	0	1	2	2	4	1	4	5	2	3	1	5	2	2	1	rs138750457		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr20:55212825G>A	ENST00000201031.2	+	7	1352	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	TFAP2C_ENST00000544508.1_Missense_Mutation_p.R201Q	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	370	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGCCAAGACCGGACACCCCAT	0.517													G|||	1	0.000199681	0	0	5008	,	,		17838	0		0	False		,,,				2504	0.001																0								G	GLN/ARG	0,4406		0,0,2203	74	71	72		1109	2.8	0.7	20	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	TFAP2C	NM_003222.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	370/451	55212825	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1109G>A	20.37:g.55212825G>A	ENSP00000201031:p.Arg370Gln		B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.R370Q	ENST00000201031.2	37	c.1109	CCDS13454.1	20	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126769	0.56721	0.0	1.16E-4	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.97089	-4.24;-4.24	5.76	2.76	0.32466	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98419	0.9474	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	D	0.98572	1.0646	10	0.66056	D	0.02	-34.6636	11.6929	0.51527	0.1931:0.0:0.8069:0.0	.	370	Q92754	AP2C_HUMAN	Q	370;201	ENSP00000201031:R370Q;ENSP00000442274:R201Q	ENSP00000201031:R370Q	R	+	2	0	TFAP2C	54646232	1.000000	0.71417	0.690000	0.30148	0.018000	0.09664	6.525000	0.73795	0.794000	0.33899	-1.056000	0.02311	CGG	TFAP2C	-	pfam_TF_AP2_C	ENSG00000087510		0.517	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	HGNC	protein_coding	OTTHUMT00000079823.2	-	0	45	0	G	NM_003222		55212825	1	tier1	rs138750457	no_errors	ENST00000201031	ensembl	human	known	74_37	missense	55.10	22	27	SNP	0.992	A	A	55212825	G	A	55212825	3	1	43	1	0	0	0	0	1	0	0	0	15836	1116	39	1	1135	1	TFAP2C	20	55212825	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	11833724	55212825	7812695	171	10534											
KRTAP10-7	386675	genome.wustl.edu	37	chr21	46020564	46020564	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgctccagcgacctgagcTacggcagccgcgtctgcctt	5	9	11	16	4	2	1	0	1	2	0	3	2	3	1	4	1	6	3	4	1	1	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr21:46020564T>A	ENST00000380102.2	+	1	68	c.43T>A	c.(43-45)Tac>Aac	p.Y15N	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	15						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGACCTGAGCTACGGCAGCCG	0.627																																																	0													46	56	53					21																	46020564		2097	4217	6314	SO:0001583	missense	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.43T>A	21.37:g.46020564T>A	ENSP00000369445:p.Tyr15Asn		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	NULL	p.Y15N	ENST00000380102.2	37	c.43		21	.	.	.	.	.	.	.	.	.	.	t	10.43	1.349456	0.24426	.	.	ENSG00000205441	ENST00000380102	T	0.00669	5.9	3.94	1.33	0.21861	.	.	.	.	.	T	0.01254	0.0041	M	0.79926	2.475	0.09310	N	1	P	0.38020	0.615	B	0.37304	0.246	T	0.41680	-0.9495	9	0.29301	T	0.29	.	4.0929	0.09978	0.0:0.1203:0.2081:0.6716	.	15	P60409-2	.	N	15	ENSP00000369445:Y15N	ENSP00000369445:Y15N	Y	+	1	0	KRTAP10-7	44844992	0.250000	0.23951	0.001000	0.08648	0.013000	0.08279	0.938000	0.28965	0.372000	0.24591	0.383000	0.25322	TAC	KRTAP10-7	-	NULL	ENSG00000205441		0.627	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	-	0	184	0	T	NM_198689		46020564	1	tier1	-	no_errors	ENST00000380102	ensembl	human	known	74_37	missense	66.67	32	64	SNP	0.002	A	A	46020564	T	A	46020564	3	1	43	1	0	0	0	0	1	0	0	0	8541	1522	53	5	45	5	KRTAP10-7	21	46020564	Missense_Mutation	SNP	T	TCGA-JY-A93C-01A-11D-A387-09		46020564	2109331	172	10535											
GNAZ	2781	genome.wustl.edu	37	chr22	23465296	23465296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggatggcagagagcttgcGcctctttgactccatctgca	7	11	11	12	2	2	2	0	1	2	1	4	4	3	3	2	2	3	3	2	2	0	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr22:23465296G>A	ENST00000248996.4	+	3	1412	c.746G>A	c.(745-747)cGc>cAc	p.R249H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	249					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GAGAGCTTGCGCCTCTTTGAC	0.557																																																	0													86	87	87					22																	23465296		2203	4300	6503	SO:0001583	missense	0				CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.746G>A	22.37:g.23465296G>A	ENSP00000248996:p.Arg249His		B2R6C1|Q4QRJ6	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.R249H	ENST00000248996.4	37	c.746	CCDS13804.1	22	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592053	0.66219	.	.	ENSG00000128266	ENST00000248996;ENST00000456059	D	0.88431	-2.38	5.14	4.1	0.47936	.	0.128983	0.53938	D	0.000041	D	0.85248	0.5653	L	0.31420	0.93	0.51012	D	0.999906	P	0.35944	0.529	B	0.42798	0.398	T	0.82673	-0.0341	10	0.30078	T	0.28	.	14.2605	0.66083	0.0:0.0:0.8498:0.1502	.	249	P19086	GNAZ_HUMAN	H	249;197	ENSP00000248996:R249H	ENSP00000248996:R249H	R	+	2	0	GNAZ	21795296	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.976000	0.56867	1.282000	0.44496	0.655000	0.94253	CGC	GNAZ	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000128266		0.557	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAZ	HGNC	protein_coding	OTTHUMT00000319073.1	-	0	80	0	G	NM_002073		23465296	1	tier1	-	no_errors	ENST00000248996	ensembl	human	known	74_37	missense	52.38	20	22	SNP	0.998	A	A	23465296	G	A	23465296	3	1	43	1	0	0	0	0	1	0	0	0	6540	1087	38	1	752	1	GNAZ	22	23465296	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09		23465296	27839270	173	10536											
DERL3	91319	genome.wustl.edu	37	chr22	24180922	24180922	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttccggaacacaaggtgCgggttgaagtagagttgaaa	14	8	13	6	2	0	3	0	2	0	1	1	4	1	4	1	3	3	3	1	3	6	4			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr22:24180922C>G	ENST00000318109.7	-	2	151	c.135G>C	c.(133-135)ccG>ccC	p.P45P	DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000404056.1_Intron|DERL3_ENST00000476077.1_Silent_p.P45P|DERL3_ENST00000406855.3_Silent_p.P45P			Q96Q80	DERL3_HUMAN	derlin 3	45					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						ACACAAGGTGCGGGTTGAAGT	0.687																																																	0													21	25	24					22																	24180922		1938	3806	5744	SO:0001819	synonymous_variant	0			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"chromosome 22 open reading frame 14", "Der1-like domain family, member 3"	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.135G>C	22.37:g.24180922C>G			F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Silent	SNP	pfam_DER1	p.P45	ENST00000318109.7	37	c.135	CCDS33615.1	22																																																																																			DERL3	-	pfam_DER1	ENSG00000099958		0.687	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	-	0	124	0	C	NM_198440		24180922	-1	tier1	-	no_errors	ENST00000318109	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.994	G	G	24180922	C	G	24180922	2	3	43	1	0	0	0	0	0	0	0	1	4462	755	27	5		5	DERL3	22	24180922	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	715626	24180922	27123644	174	10537											
ENTHD1	150350	genome.wustl.edu	37	chr22	40283492	40283492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaatgctgaataactttCtttgatccattcttgatgag	10	16	7	8	0	2	4	0	4	2	0	3	4	3	4	1	0	3	2	1	0	3	5			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr22:40283492C>A	ENST00000325157.6	-	2	511	c.261G>T	c.(259-261)aaG>aaT	p.K87N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	87	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GAATAACTTTCTTTGATCCAT	0.403																																																	0													153	156	155					22																	40283492		2203	4300	6503	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.261G>T	22.37:g.40283492C>A	ENSP00000317431:p.Lys87Asn		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.K87N	ENST00000325157.6	37	c.261	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	C	12.37	1.919047	0.33908	.	.	ENSG00000176177	ENST00000325157	T	0.43294	0.95	5.42	0.761	0.18448	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.329918	0.28349	N	0.015677	T	0.19967	0.0480	N	0.10874	0.06	0.28867	N	0.895178	B	0.14805	0.011	B	0.18561	0.022	T	0.10567	-1.0624	10	0.62326	D	0.03	-5.7057	4.9004	0.13771	0.1083:0.6047:0.1057:0.1813	.	87	Q8IYW4	ENTD1_HUMAN	N	87	ENSP00000317431:K87N	ENSP00000317431:K87N	K	-	3	2	ENTHD1	38613438	1.000000	0.71417	0.919000	0.36401	0.851000	0.48451	1.289000	0.33307	0.316000	0.23135	-0.872000	0.02987	AAG	ENTHD1	-	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	ENSG00000176177		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0	44	0	C	NM_152512		40283492	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.887	A	A	40283492	C	A	40283492	3	1	43	1	0	0	0	0	1	0	0	0	5153	912	32	3	1586	3	ENTHD1	22	40283492	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	16102570	40283492	11021074	175	10538											
RIBC2	26150	genome.wustl.edu	37	chr22	45826894	45826894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcggcagcgcgacctgCgcagagctctggacagcagc	7	3	17	14	5	1	1	0	0	1	1	1	3	1	2	1	4	5	4	1	4	0	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chr22:45826894C>T	ENST00000342894.3	+	6	1213	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	RIBC2_ENST00000538017.1_Missense_Mutation_p.R335C|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	267						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCGCGACCTGCGCAGAGCTCT	0.687																																																	0													13	14	13					22																	45826894		2192	4286	6478	SO:0001583	missense	0			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.799C>T	22.37:g.45826894C>T	ENSP00000342529:p.Arg267Cys		Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RIB43A	p.R335C	ENST00000342894.3	37	c.1003		22	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745252	0.30955	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.26660	1.72;1.72	3.9	2.89	0.33648	.	0.061980	0.64402	N	0.000009	T	0.44519	0.1297	.	.	.	0.38011	D	0.934524	D	0.89917	1.0	D	0.76575	0.988	T	0.46005	-0.9222	9	0.56958	D	0.05	-1.1145	6.1601	0.20360	0.1833:0.7171:0.0:0.0997	.	267	Q9H4K1	RIBC2_HUMAN	C	267;335	ENSP00000342529:R267C;ENSP00000444196:R335C	ENSP00000342529:R267C	R	+	1	0	RIBC2	44205558	0.971000	0.33674	0.699000	0.30290	0.020000	0.10135	2.261000	0.43276	0.869000	0.35703	-0.126000	0.14955	CGC	RIBC2	-	pfam_RIB43A	ENSG00000128408		0.687	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	HGNC	protein_coding	OTTHUMT00000322250.1	-	0	29	0	C	NM_015653		45826894	1	tier1	-	no_errors	ENST00000538017	ensembl	human	known	74_37	missense	51.85	13	14	SNP	0.322	T	T	45826894	C	T	45826894	3	4	43	1	0	0	0	0	1	0	0	0	13398	768	27	1	1024	1	RIBC2	22	45826894	Missense_Mutation	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	5543402	45826894	5477672	176	10539											
CRLF2	64109	genome.wustl.edu	37	chrX	1327703	1327704	+	Missense_Mutation	DNP	AG	AG	GT																															tctgggggccacttacctgtAgtggaaagtcaggttggtcc																										TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:1327703_1327704AG>GT	ENST00000381567.3	-	2	176_177	c.177_178CT>AC	c.(175-180)caCTac>caACac	p.59_60HY>QH	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.59_60HY>QH	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	59					immunoglobulin secretion involved in immune response (GO:0002380)|inflammatory response (GO:0006954)|T-helper 2 cell cytokine production (GO:0035745)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ACTTACCTGTAGTGGAAAGTCA	0.495			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"																																			Dom	yes		"X,Y"	Xp22.3; Yp11.3	64109	cytokine receptor-like factor 2		L	0																																										SO:0001583	missense	0			AF142570	CCDS75944.1, CCDS75945.1	Xp22.3 and Yp11.3	2011-10-07			ENSG00000205755	ENSG00000205755		"Pseudoautosomal regions / PAR1"	14281	protein-coding gene	gene with protein product		300357, 400023				11237741, 11474172	Standard	NM_022148		Approved	CRL2, TSLPR	uc004cpk.2	Q9HC73	OTTHUMG00000067432	ENST00000381567.3:c.177_178delinsGT	X.37:g.1327703_1327704delinsGT	ENSP00000370979:p.H59_Y60delinsQH		Q9H5R3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y60H|p.H59Q	ENST00000381567.3	37	c.178|c.177		X																																																																																			CRLF2	-	superfamily_Fibronectin_type3	ENSG00000205755		0.495	CRLF2-202	KNOWN	basic|appris_principal	protein_coding	CRLF2	HGNC	protein_coding		-	0	255|253	0	A|G	NM_022148		1327703|1327704	-1	tier1	-	no_errors	ENST00000381567	ensembl	human	known	74_37	missense	12.55|12.50	223|224	32	SNP	0.030|0.029	G|T	GT	1327704	AG	GT	1327703	3	3	43	1	0	0	0	0	1	0	0	0	3894	420	15	4	615	4	CRLF2	23	1327703	Missense_Mutation	DNP	AG	TCGA-JY-A93C-01A-11D-A387-09		1327703	153942857	177	10540											
ZBED1	9189	genome.wustl.edu	37	chrX	2408326	2408326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccttgaaggtgggctcGtccacgatggaggctgggta	8	8	16	9	2	0	1	0	1	0	0	2	3	1	2	2	5	1	4	2	5	2	2			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:2408326G>A	ENST00000381223.4	-	2	638	c.435C>T	c.(433-435)gaC>gaT	p.D145D	ZBED1_ENST00000381218.3_Silent_p.D145D|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.D145D|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	145					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTGGGCTCGTCCACGATGG	0.647																																																	0													77	80	79					X																	2408326		2203	4296	6499	SO:0001819	synonymous_variant	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.435C>T	X.37:g.2408326G>A			Q96BY4	Silent	SNP	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.D145	ENST00000381223.4	37	c.435	CCDS14118.1	X																																																																																			ZBED1	-	NULL	ENSG00000214717		0.647	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	-	0	79	0	G	NM_004729		2408326	-1	tier1	-	no_errors	ENST00000381218	ensembl	human	known	74_37	silent	64.20	29	52	SNP	0.989	A	A	2408326	G	A	2408326	2	1	43	1	0	0	0	0	0	0	0	1	17566	1136	40	1		1	ZBED1	23	2408326	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	1080623	2408326	152862234	178	10541											
DMD	1756	genome.wustl.edu	37	chrX	32862923	32862923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttctgcaaaacccgcaGtgccttgttgacattgttca	9	14	8	10	1	2	1	1	1	1	0	2	1	2	1	2	0	3	5	2	0	2	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:32862923G>T	ENST00000357033.4	-	4	447	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	DMD_ENST00000288447.4_Missense_Mutation_p.L73M|DMD_ENST00000378677.2_Missense_Mutation_p.L77M	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	81	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAAACCCGCAGTGCCTTGTTG	0.463																																																	0													194	138	157					X																	32862923		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.241C>A	X.37:g.32862923G>T	ENSP00000354923:p.Leu81Met		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L81M	ENST00000357033.4	37	c.241	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633495	0.67015	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000288447;ENST00000447523	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78	5.74	4.88	0.63580	Calponin homology domain (5);	0.000000	0.27754	U	0.017996	D	0.98814	0.9600	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.984;0.999	D;D;D;D	0.91635	0.969;0.999;0.933;0.999	D	0.99116	1.0848	10	0.59425	D	0.04	.	12.7298	0.57191	0.0825:0.0:0.9175:0.0	.	73;73;81;77	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	M	73;77;81;81;73;44	ENSP00000367948:L77M;ENSP00000354923:L81M;ENSP00000288447:L73M;ENSP00000395904:L44M	ENSP00000288447:L73M	L	-	1	2	DMD	32772844	1.000000	0.71417	0.964000	0.40570	0.981000	0.71138	4.603000	0.61105	1.167000	0.42706	0.600000	0.82982	CTG	DMD	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain	ENSG00000198947		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	54	0	G	NM_004006		32862923	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.998	T	T	32862923	G	T	32862923	3	4	43	1	0	0	0	0	1	0	0	0	4594	1020	36	3	11363	3	DMD	23	32862923	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	30454597	32862923	122407637	179	10542											
RP2	6102	genome.wustl.edu	37	chrX	46713483	46713483	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcattgttccaatatcccgGggtcagagacagaagagcag	13	7	12	9	1	1	3	1	0	0	3	3	4	3	3	2	2	2	3	2	2	3	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:46713483G>T	ENST00000218340.3	+	2	836	c.675G>T	c.(673-675)cgG>cgT	p.R225R		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	225					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CAATATCCCGGGGTCAGAGAC	0.428																																																	0													64	51	55					X																	46713483		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.675G>T	X.37:g.46713483G>T			Q86XJ7|Q9NU67	Silent	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.R225	ENST00000218340.3	37	c.675	CCDS14270.1	X																																																																																			RP2	-	pirsf_Protein_XRP2	ENSG00000102218		0.428	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	-	0	32	0	G	NM_006915		46713483	1	tier1	-	no_errors	ENST00000218340	ensembl	human	known	74_37	silent	33.33	6	3	SNP	0.970	T	T	46713483	G	T	46713483	2	4	43	1	0	0	0	0	0	0	0	1	13579	1219	43	3		3	RP2	23	46713483	Silent	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	13850560	46713483	108557077	180	10543											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961539	73961539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgggtatcttgcatggaGtcatacaggaccttgttgca	9	13	12	7	0	2	0	1	0	1	0	2	2	2	2	1	3	3	5	1	3	2	6			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:73961539G>T	ENST00000055682.6	-	3	3464	c.2853C>A	c.(2851-2853)gaC>gaA	p.D951E		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	951					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGCATGGAGTCATACAGGA	0.433																																																	0													177	152	160					X																	73961539		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2853C>A	X.37:g.73961539G>T	ENSP00000055682:p.Asp951Glu		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.D951E	ENST00000055682.6	37	c.2853	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	0	-2.864744	0.00064	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.26957	1.7;1.7	5.05	-0.508	0.11980	.	0.935815	0.09120	N	0.845914	T	0.06462	0.0166	N	0.02539	-0.55	0.21020	N	0.999803	B	0.19200	0.034	B	0.15870	0.014	T	0.34403	-0.9830	10	0.02654	T	1	-0.2623	0.8205	0.01111	0.3959:0.1088:0.2348:0.2604	.	951	Q5QGS0	K2022_HUMAN	E	951	ENSP00000362567:D951E;ENSP00000055682:D951E	ENSP00000055682:D951E	D	-	3	2	KIAA2022	73878264	0.998000	0.40836	0.393000	0.26258	0.019000	0.09904	0.451000	0.21779	-0.080000	0.12685	-1.158000	0.01797	GAC	KIAA2022	-	NULL	ENSG00000050030		0.433	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	48	0	G	NM_001008537		73961539	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.967	T	T	73961539	G	T	73961539	3	4	43	1	0	0	0	0	1	0	0	0	8296	1020	36	3	1705	3	KIAA2022	23	73961539	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	27248056	73961539	81309021	181	10544											
DOCK11	139818	genome.wustl.edu	37	chrX	117700054	117700054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaactgagcaggaaatGgaggaatggttgataacttt	14	10	13	4	0	0	3	0	3	0	0	0	6	0	6	0	4	3	3	0	4	4	3			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:117700054G>A	ENST00000276202.7	+	8	843	c.780G>A	c.(778-780)atG>atA	p.M260I	DOCK11_ENST00000276204.6_Missense_Mutation_p.M260I	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	260	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGCAGGAAATGGAGGAATGGT	0.398																																																	0													136	135	135					X																	117700054		2203	4300	6503	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.780G>A	X.37:g.117700054G>A	ENSP00000276202:p.Met260Ile		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M260I	ENST00000276202.7	37	c.780	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642039	0.87859	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.76316	-1.01;-1.01	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90755	0.7098	M	0.91561	3.22	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.91635	0.999;0.988	D	0.92249	0.5807	10	0.56958	D	0.05	-11.0256	18.041	0.89319	0.0:0.0:1.0:0.0	.	260;260	A6NIW2;Q5JSL3	.;DOC11_HUMAN	I	260	ENSP00000276204:M260I;ENSP00000276202:M260I	ENSP00000276202:M260I	M	+	3	0	DOCK11	117584082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.296000	0.77279	0.422000	0.28245	ATG	DOCK11	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000147251		0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	-	0	63	0	G	NM_144658		117700054	1	tier1	-	no_errors	ENST00000276202	ensembl	human	known	74_37	missense	75.47	13	40	SNP	1.000	A	A	117700054	G	A	117700054	3	1	43	1	0	0	0	0	1	0	0	0	4700	1348	47	3	810	3	DOCK11	23	117700054	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	43738515	117700054	37570506	182	10545											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298846	125298846	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctggtagaagctcagcgaCcgcacgcctgtgccaccctc	7	7	11	16	3	1	1	1	0	0	1	2	2	1	1	4	1	4	4	4	1	2	1			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:125298846C>A	ENST00000360028.2	-	1	1088	c.1062G>T	c.(1060-1062)cgG>cgT	p.R354R	DCAF12L2_ENST00000538699.1_Silent_p.R354R			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	354										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCTCAGCGACCGCACGCCTG	0.637																																																	0													48	52	50					X																	125298846		2203	4300	6503	SO:0001819	synonymous_variant	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1062G>T	X.37:g.125298846C>A			B2RN42	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R354	ENST00000360028.2	37	c.1062	CCDS43991.1	X																																																																																			DCAF12L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198354		0.637	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	37	0	C	NM_001013628		125298846	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	silent	82.35	3	14	SNP	0.999	A	A	125298846	C	A	125298846	2	1	43	1	0	0	0	0	0	0	0	1	4274	494	18	3		3	DCAF12L2	23	125298846	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	7598792	125298846	29971714	183	10546											
SMARCA1	6594	genome.wustl.edu	37	chrX	128645853	128645853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtttaaattcattcatccaGttgtgtaaagtagactttgg	11	16	8	6	1	2	1	2	0	0	1	3	1	3	1	1	1	0	4	1	1	5	8			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:128645853G>T	ENST00000371122.4	-	6	867	c.738C>A	c.(736-738)aaC>aaA	p.N246K	SMARCA1_ENST00000371121.3_Missense_Mutation_p.N246K|SMARCA1_ENST00000371123.1_Missense_Mutation_p.N246K|SMARCA1_ENST00000478420.1_5'UTR	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	246	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CATTCATCCAGTTGTGTAAAG	0.398																																																	0													197	197	197					X																	128645853		2203	4300	6503	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.738C>A	X.37:g.128645853G>T	ENSP00000360163:p.Asn246Lys		Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N246K	ENST00000371122.4	37	c.738	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240922	0.79912	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32	5.5	4.64	0.57946	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97829	0.9287	H	0.98133	4.155	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.97862	1.0281	10	0.87932	D	0	-13.4736	11.5162	0.50522	0.1539:0.0:0.8461:0.0	.	225;246;246;246	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	K	246;246;246;225	ENSP00000360162:N246K;ENSP00000360164:N246K;ENSP00000360163:N246K;ENSP00000404275:N225K	ENSP00000360162:N246K	N	-	3	2	SMARCA1	128473534	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.070000	0.57548	1.070000	0.40811	0.600000	0.82982	AAC	SMARCA1	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000102038		0.398	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1		0	92	0	G	NM_003069		128645853	-1			no_errors	ENST00000371122	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	128645853	G	T	128645853	3	4	43	1	0	0	0	0	1	0	0	0	14813	1020	36	3	2502	3	SMARCA1	23	128645853	Missense_Mutation	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	3347007	128645853	26624707	184	10547											
AFF2	2334	genome.wustl.edu	37	chrX	147891443	147891443	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgaagaaatcttgcGggtgagtttaaacctttatt	10	16	10	5	1	1	3	0	2	1	1	1	3	1	3	1	1	2	2	1	1	5	7	rs368578550		TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:147891443G>A	ENST00000370460.2	+	4	1564	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	AFF2_ENST00000370458.1_Splice_Site_p.R358Q|AFF2_ENST00000370457.5_Splice_Site_p.R358Q|AFF2_ENST00000342251.3_Splice_Site_p.R358Q|AFF2_ENST00000286437.5_Splice_Site_p.R32Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	362					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R362Q(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATCTTGCGGGTGAGTTTA	0.338																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3834		0,0,1,1632,570	202	173	183		1073,1073,1085,1073,95,1085	5	1	X		183	0,6728		0,0,0,2428,1872	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_001170628.1,NM_002025.3	43,43,43,43,43,43	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	358/1277,358/1302,362/1277,358/1273,32/953,362/1312	147891443	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1086+1G>A	X.37:g.147891443G>A			A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.R362Q	ENST00000370460.2	37	c.1085	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616088	0.87359	2.61E-4	0.0	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;0.02	5.87	5.01	0.66863	.	0.141084	0.45606	D	0.000353	T	0.74966	0.3786	L	0.39245	1.2	0.42575	D	0.993197	B;B;B;B;B;B;D	0.89917	0.04;0.032;0.032;0.032;0.032;0.04;1.0	B;B;B;B;B;B;D	0.81914	0.028;0.016;0.016;0.016;0.016;0.028;0.995	T	0.77351	-0.2620	10	0.66056	D	0.02	.	14.2101	0.65759	0.0731:0.0:0.9269:0.0	.	32;362;358;358;358;362;358	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	Q	362;358;358;358;32	ENSP00000359489:R362Q;ENSP00000359486:R358Q;ENSP00000345459:R358Q;ENSP00000359487:R358Q;ENSP00000286437:R32Q	ENSP00000286437:R32Q	R	+	2	0	AFF2	147699135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.877000	0.75562	1.247000	0.43917	-0.191000	0.12829	CGG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.338	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	63	0	G	NM_002025	Missense_Mutation	147891443	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	82.46	10	47	SNP	1.000	A	A	147891443	G	A	147891443	5	1	43	1	0	0	0	0	0	0	1	0	357	1130	39	1	1154	1	AFF2	23	147891443	Splice_Site	SNP	G	TCGA-JY-A93C-01A-11D-A387-09	19245590	147891443	7379117	185	10548											
H2AFB1	474382	genome.wustl.edu	37	chrX	154113573	154113573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagcggagagcggaacatCactcccctgctgctggacat	11	6	11	13	2	1	1	1	0	0	1	2	4	2	3	2	3	6	2	2	3	2	0			TCGA-JY-A93C-01A-11D-A387-09	TCGA-JY-A93C-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e330a3a7-6be8-48b5-bb3c-1e4d1b75a6a6	4966dbe0-8508-4888-8d41-4909e3a71c98	g.chrX:154113573C>T	ENST00000354461.2	+	1	257	c.249C>T	c.(247-249)atC>atT	p.I83I	F8_ENST00000330287.6_Intron|MIR1184-1_ENST00000408606.1_RNA|F8A1_ENST00000369446.2_5'Flank|F8_ENST00000360256.4_Intron	NM_001017990.1	NP_001017990.1	P0C5Y9	H2AB1_HUMAN	H2A histone family, member B1	83					mRNA processing (GO:0006397)|nucleosome assembly (GO:0006334)	nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCGGAACATCACTCCCCTGC	0.622																																																	0													23	43	40					X																	154113573		815	3527	4342	SO:0001819	synonymous_variant	0				CCDS35458.1	Xq28	2011-01-27			ENSG00000198082	ENSG00000274183		"Histones / Replication-independent"	22516	protein-coding gene	gene with protein product							Standard	NM_001017990		Approved			P0C5Y9	OTTHUMG00000034291	ENST00000354461.2:c.249C>T	X.37:g.154113573C>T			A0PK90|P98176|Q5TZB2|Q6FG78|Q96PR7	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.I83	ENST00000354461.2	37	c.249	CCDS35458.1	X																																																																																			H2AFB1	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A	ENSG00000198082		0.622	H2AFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFB1	HGNC	protein_coding	OTTHUMT00000082835.2	-	0	182	0	C	NM_001017990		154113573	1	tier1	-	no_errors	ENST00000354461	ensembl	human	known	74_37	silent	43.06	82	62	SNP	1.000	T	T	154113573	C	T	154113573	2	4	43	1	0	0	0	0	0	0	0	1	6951	816	29	3		3	H2AFB1	23	154113573	Silent	SNP	C	TCGA-JY-A93C-01A-11D-A387-09	6222130	154113573	1156987	186	10549											
MEGF6	1953	genome.wustl.edu	37	chr1	3425796	3425796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccgtccaggtccaccatCggctcctccagggctgccag	5	7	11	18	3	0	0	0	0	0	0	6	0	4	0	7	3	1	2	7	3	0	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:3425796C>T	ENST00000356575.4	-	12	1597	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	MEGF6_ENST00000294599.4_Silent_p.P352P	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	457						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGTCCACCATCGGCTCCTCCA	0.706																																					Ovarian(73;978 3658)												0													9	13	12					1																	3425796		2015	4145	6160	SO:0001819	synonymous_variant	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1371G>A	1.37:g.3425796C>T			Q4AC86|Q5VV39	Silent	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.P457	ENST00000356575.4	37	c.1371	CCDS41237.1	1																																																																																			MEGF6	-	NULL	ENSG00000162591		0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0	19	0	C	NM_001409		3425796	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.000	T	T	3425796	C	T	3425796	2	4	44	1	0	0	0	0	0	0	0	1	9500	871	31	1		1	MEGF6	1	3425796	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09		3425796	245824825	1	10550											
ACOT7	11332	genome.wustl.edu	37	chr1	6378592	6378592	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcagtctgaaggcccCaccaggtggatcaagctgga	10	6	15	10	0	2	1	1	1	1	0	2	3	2	3	3	5	2	2	3	5	2	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:6378592C>A	ENST00000377855.2	-	6	848	c.702G>T	c.(700-702)gtG>gtT	p.V234V	ACOT7_ENST00000545482.1_Silent_p.V119V|ACOT7_ENST00000608083.1_Silent_p.V192V|ACOT7_ENST00000377845.3_Silent_p.V204V|ACOT7_ENST00000541130.1_Silent_p.V204V|ACOT7_ENST00000377842.3_Silent_p.V183V|ACOT7_ENST00000361521.4_Silent_p.V224V	NM_181864.2	NP_863654.1	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	234					coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)	carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		CTGAAGGCCCCACCAGGTGGA	0.552																																					GBM(74;673 1226 4974 11850 13190)												0													76	68	71					1																	6378592		2203	4300	6503	SO:0001819	synonymous_variant	0			AB074417	CCDS65.1, CCDS66.1, CCDS67.1, CCDS30573.1	1p36	2008-08-14			ENSG00000097021	ENSG00000097021		"Acyl CoA thioesterases"	24157	protein-coding gene	gene with protein product	"brain acyl CoA hydrolase"	602587				10578051, 16103133, 16940157	Standard	XM_005263427		Approved	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH	uc001amt.3	O00154	OTTHUMG00000001295	ENST00000377855.2:c.702G>T	1.37:g.6378592C>A			A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540	Silent	SNP	pfam_Thioestr_supf	p.V234	ENST00000377855.2	37	c.702	CCDS65.1	1																																																																																			ACOT7	-	NULL	ENSG00000097021		0.552	ACOT7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOT7	HGNC	protein_coding	OTTHUMT00000003773.1	-	0	106	0	C	NM_007274		6378592	-1	tier1	-	no_errors	ENST00000377855	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	6378592	C	A	6378592	2	1	44	1	0	0	0	0	0	0	0	1	155	581	21	3		3	ACOT7	1	6378592	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2952796	6378592	242872029	2	10551											
AHDC1	27245	genome.wustl.edu	37	chr1	27874814	27874814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgccccgtccacctcgCggctgccggggcccagtgct	3	5	12	21	5	0	0	0	0	0	0	2	0	1	0	8	3	2	2	8	3	0	0	rs376593773		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:27874814C>T	ENST00000247087.5	-	5	4409	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000374011.2_Silent_p.P1271P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677																																																	0								C		1,4403		0,1,2201	40	51	48		3813	-9.8	0.8	1		48	1,8591		0,1,4295	no	coding-synonymous	AHDC1	NM_001029882.2		0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154		1271/1604	27874814	2,12994	2202	4296	6498	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3813G>A	1.37:g.27874814C>T			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.P1271	ENST00000247087.5	37	c.3813	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.677	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3		0	33	0	C			27874814	-1			no_errors	ENST00000247087	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.168	T	T	27874814	C	T	27874814	2	4	44	1	0	0	0	0	0	0	0	1	412	755	27	1		1	AHDC1	1	27874814	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	21496222	27874814	221375807	3	10552											
TIE1	7075	genome.wustl.edu	37	chr1	43778258	43778258	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgccccctgcacacgtgcTtctgccccccagtggtatgt	4	10	9	18	2	1	0	0	0	1	0	2	0	1	0	5	1	3	3	5	1	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:43778258T>G	ENST00000372476.3	+	12	1992	c.1913T>G	c.(1912-1914)cTt>cGt	p.L638R	TIE1_ENST00000433781.2_Missense_Mutation_p.L283R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	638	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCACACGTGCTTCTGCCCCCC	0.662																																																	0													34	34	34					1																	43778258		2200	4295	6495	SO:0001583	missense	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1913T>G	1.37:g.43778258T>G	ENSP00000361554:p.Leu638Arg		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L638R	ENST00000372476.3	37	c.1913	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	T	0.007	-2.016971	0.00418	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000433781	T;T	0.50813	0.73;0.73	5.43	1.54	0.23209	Fibronectin, type III (2);	0.760949	0.10721	N	0.641764	T	0.31040	0.0784	L	0.38531	1.155	0.19575	N	0.999966	B;B;P;B;B	0.41366	0.0;0.0;0.747;0.0;0.0	B;B;B;B;B	0.40782	0.001;0.001;0.34;0.0;0.001	T	0.12889	-1.0530	10	0.06494	T	0.89	.	4.6592	0.12634	0.4581:0.0833:0.0:0.4586	.	283;593;638;283;638	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	R	638;41;283	ENSP00000361554:L638R;ENSP00000411728:L283R	ENSP00000361553:L41R	L	+	2	0	TIE1	43550845	0.741000	0.28217	0.882000	0.34594	0.027000	0.11550	0.795000	0.26972	-0.003000	0.14444	-0.490000	0.04691	CTT	TIE1	-	superfamily_Fibronectin_type3	ENSG00000066056		0.662	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	-	0	53	0	T	NM_005424		43778258	1	tier1	-	no_errors	ENST00000372476	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.466	G	G	43778258	T	G	43778258	3	3	44	1	0	0	0	0	1	0	0	0	15940	1609	56	4	1959	4	TIE1	1	43778258	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	15903444	43778258	205472363	4	10553											
KIAA0467	23334	genome.wustl.edu	37	chr1	43909268	43909268	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgatctttactctcatagCggcgccatcgccctgagtca	7	12	8	14	3	3	2	2	2	2	0	5	2	3	2	2	1	2	0	2	1	2	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:43909268C>T	ENST00000562955.1	+	61	8455	c.8455C>T	c.(8455-8457)Cgg>Tgg	p.R2819W	SZT2_ENST00000372442.1_Splice_Site_p.R1977W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2876					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R1977W(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCTCATAGCGGCGCCATCG	0.607																																																	2	Substitution - Missense(2)	NS(2)											50	52	51					1																	43909268		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8455-1C>T	1.37:g.43909268C>T			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.R2819W	ENST00000562955.1	37	c.8455	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034298	0.35893	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	3.45	0.39498	.	0.198936	0.39834	N	0.001260	T	0.47192	0.1432	N	0.22421	0.69	0.28974	N	0.88904	D	0.89917	1.0	D	0.68765	0.96	T	0.46076	-0.9217	8	.	.	.	.	13.9931	0.64378	0.4641:0.5359:0.0:0.0	.	2819	Q5T011-5	.	W	1977	.	.	R	+	1	2	SZT2	43681855	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	3.334000	0.52097	0.616000	0.30141	-0.175000	0.13238	CGG	SZT2	-	NULL	ENSG00000198198		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3		0	19	0	C	NM_015284	Missense_Mutation	43909268	1			no_errors	ENST00000562955	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	43909268	C	T	43909268	5	4	44	1	0	0	0	0	0	0	1	0	8205	782	27	1	6107	1	KIAA0467	1	43909268	Splice_Site	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	131010	43909268	205341353	5	10554											
MOBKL2C	148932	genome.wustl.edu	37	chr1	47080726	47080726	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggaccccagtttccagaGcaaagagatttctgcgcttc	9	10	11	11	1	1	2	0	0	1	2	3	4	2	3	3	1	2	3	3	1	1	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:47080726G>T	ENST00000319928.3	-	1	181				MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.A8D|MOB3C_ENST00000371940.1_5'UTR	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C								metal ion binding (GO:0046872)										AGTTTCCAGAGCAAAGAGATT	0.493																																																	0													74	75	74					1																	47080726		2203	4300	6503	SO:0001627	intron_variant	0			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.49+1656C>A	1.37:g.47080726G>T			D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.A8D	ENST00000319928.3	37	c.23	CCDS540.1	1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512878	0.27123	.	.	ENSG00000142961	ENST00000271139	.	.	.	3.31	-6.34	0.01982	.	.	.	.	.	T	0.24198	0.0586	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38542	-0.9656	5	0.87932	D	0	.	0.192	0.00135	0.3047:0.2131:0.1448:0.3374	.	.	.	.	D	8	.	ENSP00000271139:A8D	A	-	2	0	MOBKL2C	46853313	0.007000	0.16637	0.000000	0.03702	0.061000	0.15899	-1.041000	0.03542	-1.195000	0.02680	-0.150000	0.13652	GCT	MOB3C	-	NULL	ENSG00000142961		0.493	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding		-	0	62	0	G	NM_145279		47080726	-1	tier1	-	no_errors	ENST00000271139	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	47080726	G	T	47080726	1	4	44	0	1	0	0	0	0	0	0	0	9724	971	34	3		3	MOBKL2C	1	47080726	Intron	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	3171458	47080726	202169895	6	10555											
L1TD1	54596	genome.wustl.edu	37	chr1	62676046	62676046	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggtgcacaaaacccagGaggaagaggaaacagctgtg	15	4	15	7	0	0	1	0	0	0	1	0	4	0	4	1	5	4	2	1	5	4	0	rs146015306		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:62676046G>T	ENST00000498273.1	+	4	1895	c.1600G>T	c.(1600-1602)Gag>Tag	p.E534*	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	534	Poly-Glu.							p.E534K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CAAAACCCAGGAGGAAGAGGA	0.468																																																	1	Substitution - Missense(1)	skin(1)											60	59	59					1																	62676046		2203	4300	6503	SO:0001587	stop_gained	0			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1600G>T	1.37:g.62676046G>T	ENSP00000419901:p.Glu534*		Q8NDA1|Q9NUV8|Q9NV78	Nonsense_Mutation	SNP	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.E534*	ENST00000498273.1	37	c.1600	CCDS619.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138619	0.77775	.	.	ENSG00000240563	ENST00000498273	.	.	.	1.68	-3.35	0.04928	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	1.4784	0.02431	0.207:0.1823:0.4293:0.1814	.	.	.	.	X	534	.	ENSP00000419901:E534X	E	+	1	0	L1TD1	62448634	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.441000	0.06879	-1.920000	0.01069	-1.233000	0.01565	GAG	L1TD1	-	pfam_Transposase_22	ENSG00000240563		0.468	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1	-	0	46	0	G	NM_019079		62676046	1	tier1	-	no_errors	ENST00000498273	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.000	T	T	62676046	G	T	62676046	4	4	44	1	0	0	0	0	0	1	0	0	8617	1175	41	3	1606	3	L1TD1	1	62676046	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	15595320	62676046	186574575	7	10556											
SLC35D1	23169	genome.wustl.edu	37	chr1	67516184	67516184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaactgtaaacattggCaagctggaaaaaaaaaagat	20	7	8	6	0	1	2	1	0	0	2	1	3	1	3	0	2	3	3	0	2	9	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:67516184C>A	ENST00000235345.5	-	5	481	c.396G>T	c.(394-396)ttG>ttT	p.L132F	SLC35D1_ENST00000506472.2_Missense_Mutation_p.L53F	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	132					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						TAAACATTGGCAAGCTGGAAA	0.289																																																	0													33	34	34					1																	67516184		2203	4299	6502	SO:0001583	missense	0			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"Solute carriers"	20800	protein-coding gene	gene with protein product		610804	"solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.396G>T	1.37:g.67516184C>A	ENSP00000235345:p.Leu132Phe		A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	pfam_Tpt_PEP_trans_dom	p.L132F	ENST00000235345.5	37	c.396	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936343	0.52972	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.65732	-0.17;0.23	5.43	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.89840	3.065	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73380	0.969;0.98	T	0.72154	-0.4376	10	0.87932	D	0	-20.4536	5.648	0.17600	0.1399:0.6528:0.0:0.2073	.	53;132	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	F	132;53	ENSP00000235345:L132F;ENSP00000445189:L53F	ENSP00000235345:L132F	L	-	3	2	SLC35D1	67288772	0.996000	0.38824	0.999000	0.59377	0.641000	0.38312	0.463000	0.21972	0.279000	0.22186	0.655000	0.94253	TTG	SLC35D1	-	NULL	ENSG00000116704		0.289	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	-	0	46	0	C	NM_015139		67516184	-1	tier1	-	no_errors	ENST00000235345	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A	A	67516184	C	A	67516184	3	1	44	1	0	0	0	0	1	0	0	0	14626	709	25	3	703	3	SLC35D1	1	67516184	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	4840138	67516184	181734437	8	10557											
C1orf173	127254	genome.wustl.edu	37	chr1	75102068	75102068	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggattactgggaagaggctGtaatcgaattggaggctgca	12	9	15	5	1	0	1	0	0	0	1	1	5	0	4	0	5	2	4	0	5	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:75102068G>A	ENST00000326665.5	-	6	717	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		167										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAAGAGGCTGTAATCGAATT	0.413																																																	0													227	236	233					1																	75102068		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000326665.5:c.499C>T	1.37:g.75102068G>A	ENSP00000322609:p.Gln167*		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Nonsense_Mutation	SNP	NULL	p.Q167*	ENST00000326665.5	37	c.499	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047389	0.93740	.	.	ENSG00000178965	ENST00000326665	.	.	.	5.65	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-2.0972	11.3623	0.49651	0.0:0.132:0.7177:0.1502	.	.	.	.	X	167	.	ENSP00000322609:Q167X	Q	-	1	0	C1orf173	74874656	1.000000	0.71417	0.988000	0.46212	0.348000	0.29142	2.862000	0.48388	0.677000	0.31305	0.557000	0.71058	CAG	C1orf173	-	NULL	ENSG00000178965		0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	75	0	G			75102068	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	0.995	A	A	75102068	G	A	75102068	4	1	44	1	0	0	0	0	0	1	0	0	2021	1386	48	3	4129	3	C1orf173	1	75102068	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	7585884	75102068	174148553	9	10558											
CCBL2	56267	genome.wustl.edu	37	chr1	89453970	89453970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaggattttggaagaagAaattgtcttcaggaattttg	12	14	11	4	1	2	2	1	0	1	2	3	6	3	5	1	3	0	0	1	3	4	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:89453970A>G	ENST00000260508.4	-	2	401	c.64T>C	c.(64-66)Tct>Cct	p.S22P	RBMXL1_ENST00000321792.5_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_Missense_Mutation_p.S22P|RBMXL1_ENST00000399794.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	22					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TTGGAAGAAGAAATTGTCTTC	0.348																																																	0													59	64	62					1																	89453970		2203	4300	6503	SO:0001583	missense	0			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.64T>C	1.37:g.89453970A>G	ENSP00000260508:p.Ser22Pro		B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.S22P	ENST00000260508.4	37	c.64	CCDS30766.1	1	.	.	.	.	.	.	.	.	.	.	A	6.550	0.469674	0.12461	.	.	ENSG00000137944	ENST00000260508;ENST00000370485;ENST00000370486	T;T	0.72725	-0.68;-0.52	5.5	0.397	0.16314	.	1.532570	0.03620	N	0.236183	T	0.33904	0.0879	L	0.29908	0.895	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.08700	-1.0709	10	0.35671	T	0.21	1.9953	4.0256	0.09685	0.6141:0.0:0.2384:0.1475	.	22	Q6YP21	KAT3_HUMAN	P	22	ENSP00000260508:S22P;ENSP00000359517:S22P	ENSP00000260508:S22P	S	-	1	0	CCBL2	89226558	0.124000	0.22315	0.287000	0.24848	0.262000	0.26303	0.320000	0.19540	0.061000	0.16311	0.528000	0.53228	TCT	CCBL2	-	NULL	ENSG00000137944		0.348	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	HGNC	protein_coding	OTTHUMT00000029300.3	-	0	78	0	A	NM_001008661		89453970	-1	tier1	-	no_errors	ENST00000260508	ensembl	human	known	74_37	missense	34.85	43	23	SNP	0.029	G	G	89453970	A	G	89453970	3	3	44	1	0	0	0	0	1	0	0	0	2740	246	9	4	1352	4	CCBL2	1	89453970	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	14351902	89453970	159796651	10	10559											
TMEM56	148534	genome.wustl.edu	37	chr1	95614300	95614300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtggttggtatttttggCctgtacattttcttattcga	5	21	10	5	1	1	0	0	0	1	0	2	1	1	0	1	4	1	3	1	4	3	10			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:95614300C>T	ENST00000370203.4	+	3	489	c.198C>T	c.(196-198)ggC>ggT	p.G66G	RP11-57H12.6_ENST00000604534.1_Silent_p.G66G|TMEM56_ENST00000463375.1_3'UTR	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	66	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GTATTTTTGGCCTGTACATTT	0.313																																																	0													222	209	213					1																	95614300		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.198C>T	1.37:g.95614300C>T			B2RPI2|D3DT48	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.G66	ENST00000370203.4	37	c.198	CCDS753.1	1																																																																																			TMEM56	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000152078		0.313	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TMEM56	HGNC	protein_coding	OTTHUMT00000029935.1	-	0	68	0	C	NM_152487		95614300	1	tier1	-	no_errors	ENST00000370203	ensembl	human	novel	74_37	silent	5.88	80	5	SNP	0.994	T	T	95614300	C	T	95614300	2	4	44	1	0	0	0	0	0	0	0	1	16230	726	26	3		3	TMEM56	1	95614300	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	6160330	95614300	153636321	11	10560											
PTPN22	26191	genome.wustl.edu	37	chr1	114377580	114377580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgtccatacaggaagtgGaggggggatttcatcatcta	11	10	14	6	0	3	0	2	0	1	0	4	3	4	3	1	6	1	0	1	6	3	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:114377580G>T	ENST00000359785.5	-	14	1981	c.1846C>A	c.(1846-1848)Cca>Aca	p.P616T	PTPN22_ENST00000420377.2_Missense_Mutation_p.P616T|PTPN22_ENST00000525799.1_Missense_Mutation_p.P489T|PTPN22_ENST00000528414.1_Missense_Mutation_p.P561T|PTPN22_ENST00000538253.1_Missense_Mutation_p.P372T|PTPN22_ENST00000460620.1_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	616					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGAAGTGGAGGGGGGATT	0.378																																																	0													115	117	117					1																	114377580		2203	4300	6503	SO:0001583	missense	0			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9652	protein-coding gene	gene with protein product		600716	"protein tyrosine phosphatase, non-receptor type 8"	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1846C>A	1.37:g.114377580G>T	ENSP00000352833:p.Pro616Thr		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P616T	ENST00000359785.5	37	c.1846	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410881	0.83340	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.59083	2.74;2.38;0.29;2.51;1.82	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000017	T	0.72542	0.3473	M	0.74258	2.255	0.52501	D	0.999954	D;D;D;D;D;D	0.89917	1.0;0.999;0.979;1.0;0.99;0.996	D;D;P;D;D;P	0.91635	0.999;0.927;0.826;0.998;0.916;0.89	T	0.74777	-0.3550	10	0.87932	D	0	.	17.1237	0.86709	0.0:0.0:1.0:0.0	.	372;489;616;561;616;616	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	T	616;561;372;616;489;616	ENSP00000352833:P616T;ENSP00000435176:P561T;ENSP00000439372:P372T;ENSP00000388229:P616T;ENSP00000432674:P489T	ENSP00000346621:P616T	P	-	1	0	PTPN22	114179103	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.410000	0.66381	2.779000	0.95612	0.655000	0.94253	CCA	PTPN22	-	pirsf_Non-rcpt_Tyr_Pase_8/22	ENSG00000134242		0.378	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	-	0	61	0	G	NM_015967		114377580	-1	tier1	-	no_errors	ENST00000359785	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	114377580	G	T	114377580	3	4	44	1	0	0	0	0	1	0	0	0	12832	1174	41	3	632	3	PTPN22	1	114377580	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	18763280	114377580	134873041	12	10561											
PHGDH	26227	genome.wustl.edu	37	chr1	120277963	120277963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcaagaagggggtgcGtgtggtgaactgtgcccgtg	7	8	18	8	2	0	2	0	1	0	1	0	2	0	2	2	3	4	1	2	3	3	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:120277963G>A	ENST00000369409.4	+	7	825	c.689G>A	c.(688-690)cGt>cAt	p.R230H	PHGDH_ENST00000369407.3_Missense_Mutation_p.R196H	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	230					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		AAGGGGGTGCGTGTGGTGAAC	0.627																																																	0													113	115	114					1																	120277963		2203	4300	6503	SO:0001583	missense	0			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.689G>A	1.37:g.120277963G>A	ENSP00000358417:p.Arg230His		B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH	p.R230H	ENST00000369409.4	37	c.689	CCDS904.1	1	.	.	.	.	.	.	.	.	.	.	.	16.94	3.260059	0.59321	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	T;T	0.80214	-1.35;-1.35	5.23	4.31	0.51392	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (2);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.166982	0.51477	D	0.000081	T	0.61565	0.2357	M	0.65677	2.01	0.36542	D	0.871366	P;P;P;P;B	0.36647	0.563;0.563;0.563;0.508;0.336	B;B;B;B;B	0.27170	0.077;0.029;0.029;0.063;0.029	T	0.67601	-0.5629	10	0.66056	D	0.02	-7.5781	7.2602	0.26199	0.2598:0.0:0.7402:0.0	.	102;196;196;103;230	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	H	230;103;62;196	ENSP00000358417:R230H;ENSP00000358415:R196H	ENSP00000358415:R196H	R	+	2	0	PHGDH	120079486	1.000000	0.71417	0.778000	0.31720	0.972000	0.66771	3.440000	0.52886	1.211000	0.43351	0.655000	0.94253	CGT	PHGDH	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,tigrfam_D-3-Phosphoglycerate_DH	ENSG00000092621		0.627	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHGDH	HGNC	protein_coding	OTTHUMT00000033464.1	-	0	40	0	G	NM_006623		120277963	1	tier1	-	no_errors	ENST00000369409	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.882	A	A	120277963	G	A	120277963	3	1	44	1	0	0	0	0	1	0	0	0	11880	1145	40	1	715	1	PHGDH	1	120277963	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	5900383	120277963	128972658	13	10562											
BCL9	607	genome.wustl.edu	37	chr1	147095863	147095863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgggtcccaggagccaccGatggtacctcaaggacggat	10	6	13	12	2	1	0	1	0	0	0	2	4	2	3	4	5	2	1	4	5	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:147095863G>A	ENST00000234739.3	+	10	4124	c.3384G>A	c.(3382-3384)ccG>ccA	p.P1128P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1128	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGGAGCCACCGATGGTACCTC	0.612			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													100	102	102					1																	147095863		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3384G>A	1.37:g.147095863G>A			Q5T489	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P1128	ENST00000234739.3	37	c.3384	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.612	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	0	77	0	G	NM_004326		147095863	1	tier1	-	no_errors	ENST00000234739	ensembl	human	known	74_37	silent	18.37	40	9	SNP	0.478	A	A	147095863	G	A	147095863	2	1	44	1	0	0	0	0	0	0	0	1	1382	1045	37	1		1	BCL9	1	147095863	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	26817900	147095863	102154758	14	10563											
IVL	3713	genome.wustl.edu	37	chr1	152883269	152883269	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagcagcaggaggggcaActggagcagctggaggagca	11	3	19	8	0	0	0	0	0	0	0	0	5	0	5	0	7	6	6	0	7	1	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:152883269A>C	ENST00000368764.3	+	2	1060	c.996A>C	c.(994-996)caA>caC	p.Q332H	IVL_ENST00000392667.2_Missense_Mutation_p.Q186H			P07476	INVO_HUMAN	involucrin	332	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.Q332Q(3)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aggaggggcaactggagcagc	0.662																																																	3	Substitution - coding silent(3)	endometrium(3)											17	17	17					1																	152883269		2117	4166	6283	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.996A>C	1.37:g.152883269A>C	ENSP00000357753:p.Gln332His		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q332H	ENST00000368764.3	37	c.996	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531006	0.27387	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11277	2.94;2.79	3.82	1.89	0.25635	.	.	.	.	.	T	0.07773	0.0195	L	0.29908	0.895	0.28288	N	0.923696	D	0.89917	1.0	D	0.71870	0.975	T	0.24119	-1.0169	9	0.34782	T	0.22	.	8.1689	0.31243	0.2117:0.0:0.7883:0.0	.	332	P07476	INVO_HUMAN	H	332;186	ENSP00000357753:Q332H;ENSP00000376435:Q186H	ENSP00000357753:Q332H	Q	+	3	2	IVL	151149893	0.001000	0.12720	0.019000	0.16419	0.003000	0.03518	-0.459000	0.06728	0.221000	0.20879	-0.259000	0.10710	CAA	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.662	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	115	0	A	NM_005547		152883269	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	7.34	98	8	SNP	0.767	C	C	152883269	A	C	152883269	3	2	44	1	0	0	0	0	1	0	0	0	7956	40	2	4	998	4	IVL	1	152883269	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	5787406	152883269	96367352	15	10564											
CD1A	909	genome.wustl.edu	37	chr1	158224912	158224912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccatgtcacctggatcGcatccttttacaaccattcc	8	13	4	16	1	1	0	1	0	0	0	5	1	4	1	6	1	2	1	6	1	2	4	rs140904380		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:158224912G>T	ENST00000289429.5	+	2	630	c.97G>T	c.(97-99)Gca>Tca	p.A33S		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	33					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CACCTGGATCGCATCCTTTTA	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											137	115	123					1																	158224912		2203	4300	6503	SO:0001583	missense	0			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.97G>T	1.37:g.158224912G>T	ENSP00000289429:p.Ala33Ser		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A33S	ENST00000289429.5	37	c.97	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.416365	0.01136	.	.	ENSG00000158477	ENST00000289429	T	0.17528	2.27	4.54	-0.785	0.10950	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.826170	0.03768	N	0.259261	T	0.00637	0.0021	N	0.00097	-2.15	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.45877	-0.9231	10	0.02654	T	1	-0.0225	4.9472	0.13994	0.3014:0.0:0.3237:0.3748	.	33	P06126	CD1A_HUMAN	S	33	ENSP00000289429:A33S	ENSP00000289429:A33S	A	+	1	0	CD1A	156491536	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.636000	0.05465	-0.297000	0.08934	-1.810000	0.00614	GCA	CD1A	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158477		0.468	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2		0	40	0	G	NM_001763		158224912	1			no_errors	ENST00000289429	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T	T	158224912	G	T	158224912	3	4	44	1	0	0	0	0	1	0	0	0	2981	1087	38	2	103	2	CD1A	1	158224912	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	5341643	158224912	91025709	16	10565											
CD1E	913	genome.wustl.edu	37	chr1	158324338	158324338	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcaccatccgctttcTgaagccctggtcccatggaa	7	10	10	14	1	1	1	0	1	1	0	3	2	3	2	4	3	1	2	4	3	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:158324338T>G	ENST00000368167.3	+	2	469	c.230T>G	c.(229-231)cTg>cGg	p.L77R	CD1E_ENST00000434258.1_Missense_Mutation_p.L75R|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.L77R|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.L77R|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.L77R|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.L77R|CD1E_ENST00000368155.3_Missense_Mutation_p.L77R|CD1E_ENST00000368156.1_Missense_Mutation_p.L77R	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	77					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATCCGCTTTCTGAAGCCCTGG	0.517																																																	0													57	62	60					1																	158324338		2145	4285	6430	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.230T>G	1.37:g.158324338T>G	ENSP00000357149:p.Leu77Arg		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L77R	ENST00000368167.3	37	c.230	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	T	12.86	2.065369	0.36470	.	.	ENSG00000158488	ENST00000434258;ENST00000368167;ENST00000368165;ENST00000368163;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155	T;T;T;T;T;T;T;T	0.08193	3.22;3.22;3.12;3.22;3.22;3.22;3.34;3.31	3.8	1.31	0.21738	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.267886	0.20027	N	0.100782	T	0.08846	0.0219	M	0.77103	2.36	0.09310	N	1	B;D;D;P;B;P;B;B	0.63046	0.313;0.985;0.992;0.515;0.204;0.843;0.325;0.356	B;P;P;P;B;B;B;B	0.55824	0.089;0.785;0.785;0.475;0.107;0.291;0.108;0.238	T	0.07501	-1.0769	10	0.56958	D	0.05	-2.6472	6.2929	0.21069	0.4063:0.0:0.0:0.5937	.	75;77;77;77;77;77;77;77	E7ET31;P15812-5;P15812-7;P15812-2;P15812;P15812-3;P15812-6;P15812-4	.;.;.;.;CD1E_HUMAN;.;.;.	R	75;77;77;77;77;77;77;77	ENSP00000401957:L75R;ENSP00000357149:L77R;ENSP00000357147:L77R;ENSP00000357145:L77R;ENSP00000357142:L77R;ENSP00000357143:L77R;ENSP00000357138:L77R;ENSP00000357137:L77R	ENSP00000357137:L77R	L	+	2	0	CD1E	156590962	0.019000	0.18553	0.002000	0.10522	0.681000	0.39784	1.189000	0.32114	0.247000	0.21414	0.460000	0.39030	CTG	CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.517	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	56	0	T	NM_030893		158324338	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	missense	23.81	32	10	SNP	0.002	G	G	158324338	T	G	158324338	3	3	44	1	0	0	0	0	1	0	0	0	2985	1580	55	4	236	4	CD1E	1	158324338	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	99426	158324338	90926283	17	10566											
OR6Y1	391112	genome.wustl.edu	37	chr1	158517076	158517076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataccactttgttggaatTgtaggcatacatgagtttgg	11	14	11	5	0	0	2	0	1	0	1	0	3	0	3	1	3	2	4	1	3	4	7			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:158517076T>A	ENST00000302617.3	-	1	819	c.820A>T	c.(820-822)Aat>Tat	p.N274Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTGTTGGAATTGTAGGCATAC	0.468																																																	0													214	199	204					1																	158517076		2203	4300	6503	SO:0001583	missense	0			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.820A>T	1.37:g.158517076T>A	ENSP00000304807:p.Asn274Tyr		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N274Y	ENST00000302617.3	37	c.820	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690299	0.48097	.	.	ENSG00000197532	ENST00000302617	T	0.00091	8.74	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000396	T	0.00178	0.0005	L	0.58354	1.805	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.25984	-1.0116	10	0.87932	D	0	.	10.1544	0.42814	0.1495:0.0:0.0:0.8504	.	274	Q8NGX8	OR6Y1_HUMAN	Y	274	ENSP00000304807:N274Y	ENSP00000304807:N274Y	N	-	1	0	OR6Y1	156783700	0.000000	0.05858	0.866000	0.34008	0.996000	0.88848	-0.116000	0.10724	2.230000	0.72887	0.533000	0.62120	AAT	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197532		0.468	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	-	0	52	0	T	NM_001005189		158517076	-1	tier1	-	no_errors	ENST00000302617	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.000	A	A	158517076	T	A	158517076	3	1	44	1	0	0	0	0	1	0	0	0	11252	1812	63	5	159	5	OR6Y1	1	158517076	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	192738	158517076	90733545	18	10567											
OR10X1	128367	genome.wustl.edu	37	chr1	158549213	158549213	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcaagcagaggccacaagTtgtccacatacaatgttggt	12	9	11	9	0	0	1	0	0	0	1	1	1	1	1	2	2	3	4	2	2	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:158549213T>G	ENST00000368150.1	-	1	476	c.477A>C	c.(475-477)caA>caC	p.Q159H		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGGCCACAAGTTGTCCACATA	0.453																																																	0													58	59	59					1																	158549213		2203	4300	6503	SO:0001583	missense	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.477A>C	1.37:g.158549213T>G	ENSP00000357132:p.Gln159His		Q6IFR8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q159H	ENST00000368150.1	37	c.477	CCDS30900.1	1	.	.	.	.	.	.	.	.	.	.	T	3.887	-0.024752	0.07589	.	.	ENSG00000186400	ENST00000368150	T	0.00137	8.68	5.0	-5.32	0.02722	GPCR, rhodopsin-like superfamily (1);	0.462899	0.18191	N	0.148813	T	0.00039	0.0001	L	0.56280	1.765	0.09310	N	1	B	0.11235	0.004	B	0.17098	0.017	T	0.44574	-0.9319	10	0.46703	T	0.11	.	8.6313	0.33922	0.2404:0.5706:0.0:0.189	.	159	Q8NGY0	O10X1_HUMAN	H	159	ENSP00000357132:Q159H	ENSP00000357132:Q159H	Q	-	3	2	OR10X1	156815837	0.000000	0.05858	0.067000	0.19924	0.729000	0.41735	-0.496000	0.06436	-0.916000	0.03818	0.455000	0.32223	CAA	OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186400		0.453	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0	36	0	T	NM_001004477		158549213	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.000	G	G	158549213	T	G	158549213	3	3	44	1	0	0	0	0	1	0	0	0	10961	1722	60	4	498	4	OR10X1	1	158549213	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	32137	158549213	90701408	19	10568											
NME7	29922	genome.wustl.edu	37	chr1	169256597	169256597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaattagtaaatttagcaGtgtttgccggcccacaacct	12	12	7	10	1	0	0	0	0	0	0	0	0	0	0	3	1	4	3	3	1	7	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:169256597G>T	ENST00000367811.3	-	7	954	c.698C>A	c.(697-699)aCt>aAt	p.T233N	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.T197N	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	233					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AAATTTAGCAGTGTTTGCCGG	0.363																																																	0													234	231	232					1																	169256597		2203	4300	6503	SO:0001583	missense	0			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.698C>A	1.37:g.169256597G>T	ENSP00000356785:p.Thr233Asn		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.T233N	ENST00000367811.3	37	c.698	CCDS1277.1	1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926446	0.73327	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.57436	0.4;0.4	4.57	4.57	0.56435	.	0.155986	0.56097	D	0.000028	T	0.58104	0.2099	M	0.87682	2.9	0.45718	D	0.998624	D;P	0.54964	0.969;0.644	P;P	0.51193	0.662;0.461	T	0.70575	-0.4834	9	0.87932	D	0	-19.6576	12.6991	0.57020	0.0:0.1671:0.8328:0.0	.	237;233	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	N	197;233	ENSP00000433341:T197N;ENSP00000356785:T233N	ENSP00000356785:T233N	T	-	2	0	NME7	167523221	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.626000	0.54245	2.088000	0.63022	0.637000	0.83480	ACT	NME7	-	pirsf_NDK7	ENSG00000143156		0.363	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1	-	0	43	0	G	NM_013330		169256597	-1	tier1	-	no_errors	ENST00000367811	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	169256597	G	T	169256597	3	4	44	1	0	0	0	0	1	0	0	0	10535	1029	36	3	456	3	NME7	1	169256597	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	10707384	169256597	79994024	20	10569											
C1orf112	55732	genome.wustl.edu	37	chr1	169796899	169796899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttcttctggttgttGtcatggataagctgccatct	7	17	9	8	0	5	0	1	0	4	0	5	1	5	1	1	2	2	3	1	2	2	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:169796899G>T	ENST00000286031.6	+	12	1745	c.1045G>T	c.(1045-1047)Gtc>Ttc	p.V349F	C1orf112_ENST00000413811.2_Intron|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.V349F	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	349										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTGGTTGTTGTCATGGATAA	0.413																																																	0													384	381	382					1																	169796899		2203	4300	6503	SO:0001583	missense	0			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1045G>T	1.37:g.169796899G>T	ENSP00000286031:p.Val349Phe		A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.V349F	ENST00000286031.6	37	c.1045	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446964	0.63178	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.48836	0.8;0.8	5.53	0.956	0.19608	.	0.366153	0.33813	N	0.004533	T	0.27278	0.0669	L	0.38175	1.15	0.29134	N	0.879446	P;P	0.51240	0.943;0.943	P;P	0.54312	0.748;0.748	T	0.13255	-1.0516	10	0.72032	D	0.01	-1.1176	4.2784	0.10820	0.3801:0.1941:0.4259:0.0	.	291;349	B4DGF2;Q9NSG2	.;CA112_HUMAN	F	349	ENSP00000352276:V349F;ENSP00000286031:V349F	ENSP00000286031:V349F	V	+	1	0	C1orf112	168063523	0.040000	0.19996	0.052000	0.19188	0.915000	0.54546	0.410000	0.21098	-0.048000	0.13401	0.491000	0.48974	GTC	C1orf112	-	NULL	ENSG00000000460		0.413	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	-	0	67	0	G	NM_018186		169796899	1	tier1	-	no_errors	ENST00000286031	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.223	T	T	169796899	G	T	169796899	3	4	44	1	0	0	0	0	1	0	0	0	1992	1377	48	3	1083	3	C1orf112	1	169796899	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	540302	169796899	79453722	21	10570											
METTL13	51603	genome.wustl.edu	37	chr1	171761202	171761202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgggcgggggcagccTccccctctttgtccacgatc	4	8	13	16	2	1	0	0	0	1	0	4	1	3	0	5	4	1	1	5	4	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:171761202T>C	ENST00000361735.3	+	6	1786	c.1520T>C	c.(1519-1521)cTc>cCc	p.L507P	METTL13_ENST00000362019.3_Missense_Mutation_p.L421P|METTL13_ENST00000458517.1_Missense_Mutation_p.L506P|METTL13_ENST00000367737.5_Missense_Mutation_p.L351P|METTL13_ENST00000466643.1_3'UTR	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	507							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGGGGCAGCCTCCCCCTCTTT	0.517																																																	0													130	117	122					1																	171761202		2203	4300	6503	SO:0001583	missense	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1520T>C	1.37:g.171761202T>C	ENSP00000354920:p.Leu507Pro		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.L507P	ENST00000361735.3	37	c.1520	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401108	0.83120	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79940	-0.26;-0.26;-0.26;-0.26;-1.32	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	M	0.92026	3.265	0.80722	D	1	D;P;D	0.89917	1.0;0.61;1.0	D;B;D	0.91635	0.999;0.176;0.999	D	0.88244	0.2912	10	0.17832	T	0.49	-47.6862	15.8164	0.78604	0.0:0.0:0.0:1.0	.	506;351;507	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	P	506;421;351;507;207;204	ENSP00000401955:L506P;ENSP00000355393:L421P;ENSP00000356711:L351P;ENSP00000354920:L507P;ENSP00000356710:L207P	ENSP00000341732:L204P	L	+	2	0	METTL13	170027825	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.683000	0.84093	2.209000	0.71365	0.533000	0.62120	CTC	METTL13	-	NULL	ENSG00000010165		0.517	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5		0	51	0	T	NM_014955		171761202	1			no_errors	ENST00000361735	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	C	C	171761202	T	C	171761202	3	2	44	1	0	0	0	0	1	0	0	0	9535	1551	54	4	1542	4	METTL13	1	171761202	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	1964303	171761202	77489419	22	10571											
MRPS14	63931	genome.wustl.edu	37	chr1	174987553	174987553	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactcatcttaattagctaaCctgaagaatttttggcaaaa	15	13	6	7	0	2	2	1	1	1	1	2	3	2	2	1	1	2	2	1	1	7	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:174987553C>T	ENST00000476371.1	-	2	221		c.e2+1			NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						AATTAGCTAACCTGAAGAATT	0.368																																																	0													171	159	163					1																	174987553		2203	4300	6503	SO:0001630	splice_region_variant	0			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"Mitochondrial ribosomal proteins / small subunits"	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.204+1G>A	1.37:g.174987553C>T				Splice_Site	SNP	-	e2+1	ENST00000476371.1	37	c.204+1	CCDS1316.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627522	0.46944	.	.	ENSG00000120333	ENST00000476371	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3537	0.87330	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPS14	173254176	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	7.595000	0.82710	2.496000	0.84212	0.655000	0.94253	.	MRPS14	-	-	ENSG00000120333		0.368	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS14	HGNC	protein_coding	OTTHUMT00000084416.2	-	0	62	0	C	NM_022100	Intron	174987553	-1	tier1	-	no_errors	ENST00000476371	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	T	T	174987553	C	T	174987553	5	4	44	1	0	0	0	0	0	0	1	0	9862	521	18	3	189	3	MRPS14	1	174987553	Splice_Site	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	3226351	174987553	74263068	23	10572											
KCNT2	343450	genome.wustl.edu	37	chr1	196397362	196397362	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactatagtttcctcctgacTtttgtctctccatccacaaa	9	15	4	13	0	1	1	0	1	1	0	6	2	5	1	4	0	0	1	4	0	3	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:196397362T>C	ENST00000294725.9	-	10	1772	c.857A>G	c.(856-858)aAg>aGg	p.K286R	KCNT2_ENST00000367431.4_Missense_Mutation_p.K286R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.K286R|KCNT2_ENST00000367433.5_Missense_Mutation_p.K286R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	286					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCCTCCTGACTTTTGTCTCTC	0.343																																																	0													117	107	111					1																	196397362		2203	4300	6503	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.857A>G	1.37:g.196397362T>C	ENSP00000294725:p.Lys286Arg		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.K286R	ENST00000294725.9	37	c.857	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.364287	0.61513	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.24151	1.87;1.87;1.87	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	T	0.41926	0.1180	L	0.61036	1.89	0.80722	D	1	P;P;B;P	0.49696	0.927;0.72;0.229;0.927	P;P;B;P	0.53224	0.721;0.6;0.112;0.721	T	0.26360	-1.0105	10	0.56958	D	0.05	-22.6575	16.0329	0.80593	0.0:0.0:0.0:1.0	.	286;286;286;286	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	R	286;286;107;286	ENSP00000356403:K286R;ENSP00000356401:K286R;ENSP00000294725:K286R	ENSP00000294725:K286R	K	-	2	0	KCNT2	194663985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.197000	0.70478	0.533000	0.62120	AAG	KCNT2	-	NULL	ENSG00000162687		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	31	0	T	NM_198503		196397362	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	C	C	196397362	T	C	196397362	3	2	44	1	0	0	0	0	1	0	0	0	8119	1609	56	4	2626	4	KCNT2	1	196397362	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	21409809	196397362	52853259	24	10573											
F13B	2165	genome.wustl.edu	37	chr1	197021845	197021845	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatggggttaatggagataAgtcatatccctgtttacata	13	13	9	6	0	1	1	1	0	0	1	2	2	2	1	1	3	1	2	1	3	6	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:197021845A>C	ENST00000367412.1	-	9	1517	c.1474T>G	c.(1474-1476)Tta>Gta	p.L492V	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	492	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AATGGAGATAAGTCATATCCC	0.323																																																	0													112	113	113					1																	197021845		2203	4294	6497	SO:0001583	missense	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1474T>G	1.37:g.197021845A>C	ENSP00000356382:p.Leu492Val		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L492V	ENST00000367412.1	37	c.1474	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	A	6.682	0.494367	0.12702	.	.	ENSG00000143278	ENST00000367412	D	0.83250	-1.7	5.47	1.86	0.25419	Complement control module (1);	0.000000	0.27139	N	0.020749	T	0.75693	0.3884	L	0.55834	1.745	0.09310	N	1	P	0.39060	0.657	B	0.39971	0.315	T	0.68078	-0.5504	10	0.66056	D	0.02	.	3.234	0.06758	0.5095:0.0:0.2158:0.2747	.	492	P05160	F13B_HUMAN	V	492	ENSP00000356382:L492V	ENSP00000356382:L492V	L	-	1	2	F13B	195288468	0.348000	0.24861	0.003000	0.11579	0.077000	0.17291	1.459000	0.35234	0.349000	0.23975	0.533000	0.62120	TTA	F13B	-	superfamily_Sushi_SCR_CCP	ENSG00000143278		0.323	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	-	0	39	0	A	NM_001994		197021845	-1	tier1	-	no_errors	ENST00000367412	ensembl	human	known	74_37	missense	12.00	66	9	SNP	0.006	C	C	197021845	A	C	197021845	3	2	44	1	0	0	0	0	1	0	0	0	5357	69	3	4	527	4	F13B	1	197021845	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	624483	197021845	52228776	25	10574											
CRB1	23418	genome.wustl.edu	37	chr1	197396706	197396706	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacgcttcaaccatcaggcTtacttctagctttggaaaac	12	11	7	11	1	3	0	2	0	1	0	3	2	3	1	1	2	5	3	1	2	6	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:197396706T>G	ENST00000367400.3	+	7	2386	c.2251T>G	c.(2251-2253)Tta>Gta	p.L751V	CRB1_ENST00000367397.1_Missense_Mutation_p.L132V|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.L639V|CRB1_ENST00000544212.1_Missense_Mutation_p.L232V|CRB1_ENST00000535699.1_Missense_Mutation_p.L682V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	751	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCATCAGGCTTACTTCTAGC	0.463																																																	0													78	71	73					1																	197396706		2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2251T>G	1.37:g.197396706T>G	ENSP00000356370:p.Leu751Val		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L751V	ENST00000367400.3	37	c.2251	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.833114	0.32421	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.75	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.79845	0.4516	M	0.77616	2.38	0.40483	D	0.980461	P;P;P;P	0.51351	0.94;0.925;0.944;0.892	P;B;P;P	0.47044	0.535;0.352;0.475;0.492	T	0.76274	-0.3019	9	0.15952	T	0.53	.	6.9878	0.24737	0.1318:0.0698:0.0:0.7984	.	682;639;400;751	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	V	682;751;639;232;132;400	ENSP00000438786:L682V;ENSP00000356370:L751V;ENSP00000356369:L639V;ENSP00000444556:L232V;ENSP00000356367:L132V	ENSP00000356367:L132V	L	+	1	2	CRB1	195663329	0.854000	0.29725	0.976000	0.42696	0.035000	0.12851	0.644000	0.24766	0.992000	0.38840	-0.297000	0.09499	TTA	CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.463	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	48	0	T	NM_201253		197396706	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.999	G	G	197396706	T	G	197396706	3	3	44	1	0	0	0	0	1	0	0	0	3855	1606	56	4	2277	4	CRB1	1	197396706	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	374861	197396706	51853915	26	10575											
IGFN1	91156	genome.wustl.edu	37	chr1	201182749	201182749	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccaaggatgcccaaGgtaggtgcttctctgctgag	7	12	12	10	0	2	1	0	1	2	0	4	2	2	2	2	3	3	4	2	3	3	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:201182749G>T	ENST00000335211.4	+	12	8858	c.8728G>T	c.(8728-8730)Ggc>Tgc	p.G2910C	IGFN1_ENST00000295591.8_Splice_Site_p.G70C|IGFN1_ENST00000451870.2_Splice_Site_p.G453C	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	453						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGATGCCCAAGGTAGGTGCTT	0.587																																																	0													59	55	57					1																	201182749		2203	4300	6503	SO:0001630	splice_region_variant	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8728+1G>T	1.37:g.201182749G>T			F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G2910C	ENST00000335211.4	37	c.8728	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.308458|4.308458	0.81247|0.81247	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000451870;ENST00000295591|ENST00000412892	T;T;T|.	0.62232|.	0.43;0.04;0.65|.	3.01|3.01	3.01|3.01	0.34805|0.34805	.|.	0.777662|.	0.09715|.	U|.	0.765190|.	T|T	0.45955|0.45955	0.1368|0.1368	L|L	0.34521|0.34521	1.04|1.04	0.38868|0.38868	D|D	0.956638|0.956638	P|.	0.45474|.	0.859|.	P|.	0.52672|.	0.706|.	T|T	0.39418|0.39418	-0.9615|-0.9615	10|5	0.56958|.	D|.	0.05|.	.|.	9.307|9.307	0.37881|0.37881	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2910|.	F8WAI1|.	.|.	C|M	2910;453;70|327	ENSP00000334714:G2910C;ENSP00000398386:G453C;ENSP00000295591:G70C|.	ENSP00000295591:G70C|.	G|R	+|+	1|2	0|0	IGFN1|IGFN1	199449372|199449372	1.000000|1.000000	0.71417|0.71417	0.258000|0.258000	0.24420|0.24420	0.029000|0.029000	0.11900|0.11900	3.514000|3.514000	0.53422|0.53422	1.515000|1.515000	0.48885|0.48885	0.491000|0.491000	0.48974|0.48974	GGC|AGG	IGFN1	-	NULL	ENSG00000163395		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0	39	0	G	NM_178275	Missense_Mutation	201182749	1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.927	T	T	201182749	G	T	201182749	5	4	44	1	0	0	0	0	0	0	1	0	7617	1014	35	3	8770	3	IGFN1	1	201182749	Splice_Site	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	3786043	201182749	48067872	27	10576											
PROX1	5629	genome.wustl.edu	37	chr1	214170645	214170645	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcgccagctgcaggaaaAgttctaccaaatctatgaca	13	8	9	11	1	2	1	0	1	2	0	2	2	2	2	2	1	4	4	2	1	5	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:214170645A>C	ENST00000366958.4	+	2	1375	c.767A>C	c.(766-768)aAg>aCg	p.K256T	PROX1_ENST00000498508.2_Missense_Mutation_p.K256T|PROX1_ENST00000261454.4_Missense_Mutation_p.K256T|PROX1_ENST00000435016.1_Missense_Mutation_p.K256T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	256					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTGCAGGAAAAGTTCTACCAA	0.532																																																	0													48	49	49					1																	214170645		2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.767A>C	1.37:g.214170645A>C	ENSP00000355925:p.Lys256Thr		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.K256T	ENST00000366958.4	37	c.767	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.075712	0.55646	.	.	ENSG00000117707	ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	M	0.65498	2.005	0.80722	D	1	B	0.31655	0.334	B	0.43155	0.41	T	0.13202	-1.0518	10	0.62326	D	0.03	-6.8127	16.05	0.80749	1.0:0.0:0.0:0.0	.	256	Q92786	PROX1_HUMAN	T	256	ENSP00000420283:K256T;ENSP00000355925:K256T;ENSP00000400694:K256T;ENSP00000261454:K256T	ENSP00000261454:K256T	K	+	2	0	PROX1	212237268	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	AAG	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.532	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0	21	0	A	NM_002763		214170645	1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	C	C	214170645	A	C	214170645	3	2	44	1	0	0	0	0	1	0	0	0	12602	72	3	4	769	4	PROX1	1	214170645	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	12987896	214170645	35079976	28	10577											
USH2A	7399	genome.wustl.edu	37	chr1	215987084	215987084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataaccctcacctggtaGaattctagcgtaatacccag	14	9	7	11	1	2	1	1	0	1	1	2	2	2	1	3	1	3	2	3	1	7	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:215987084G>T	ENST00000307340.3	-	49	10119	c.9733C>A	c.(9733-9735)Cta>Ata	p.L3245I	USH2A_ENST00000366943.2_Missense_Mutation_p.L3245I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3245					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCACCTGGTAGAATTCTAGCG	0.438										HNSCC(13;0.011)																																							0													115	109	111					1																	215987084		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9733C>A	1.37:g.215987084G>T	ENSP00000305941:p.Leu3245Ile		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L3245I	ENST00000307340.3	37	c.9733	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101402	0.76983	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13420	2.6;2.59	5.53	4.63	0.57726	Fibronectin, type III (2);	0.000000	0.33057	U	0.005332	T	0.15435	0.0372	M	0.72479	2.2	0.09310	N	1	P	0.40250	0.709	B	0.40410	0.328	T	0.21759	-1.0236	10	0.36615	T	0.2	.	4.3932	0.11350	0.2097:0.0:0.6152:0.1751	.	3245	O75445	USH2A_HUMAN	I	3245	ENSP00000305941:L3245I;ENSP00000355910:L3245I	ENSP00000305941:L3245I	L	-	1	2	USH2A	214053707	0.962000	0.33011	0.046000	0.18839	0.985000	0.73830	2.313000	0.43735	1.343000	0.45638	0.591000	0.81541	CTA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	72	0	G	NM_007123		215987084	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.013	T	T	215987084	G	T	215987084	3	4	44	1	0	0	0	0	1	0	0	0	17085	933	33	3	5971	3	USH2A	1	215987084	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1816439	215987084	33263537	29	10578											
USH2A	7399	genome.wustl.edu	37	chr1	216011423	216011423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccattgcttttcacgcagGcatatattgtgcagacttca	9	15	7	10	1	2	1	2	0	0	1	3	1	3	1	1	1	2	4	1	1	2	8			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:216011423G>A	ENST00000307340.3	-	47	9667	c.9281C>T	c.(9280-9282)gCc>gTc	p.A3094V	USH2A_ENST00000366943.2_Missense_Mutation_p.A3094V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3094	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.A3094D(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTCACGCAGGCATATATTGT	0.378										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	lung(1)											212	193	200					1																	216011423		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9281C>T	1.37:g.216011423G>A	ENSP00000305941:p.Ala3094Val		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.A3094V	ENST00000307340.3	37	c.9281	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860824	0.71834	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53206	0.63;0.63	5.01	5.01	0.66863	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000424	T	0.68613	0.3020	M	0.72479	2.2	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.70085	-0.4969	10	0.48119	T	0.1	.	17.9566	0.89070	0.0:0.0:1.0:0.0	.	3094	O75445	USH2A_HUMAN	V	3094	ENSP00000305941:A3094V;ENSP00000355910:A3094V	ENSP00000305941:A3094V	A	-	2	0	USH2A	214078046	1.000000	0.71417	0.970000	0.41538	0.181000	0.23173	5.784000	0.68990	2.331000	0.79229	0.655000	0.94253	GCC	USH2A	-	smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	49	0	G	NM_007123		216011423	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	6.25	44	3	SNP	1.000	A	A	216011423	G	A	216011423	3	1	44	1	0	0	0	0	1	0	0	0	17085	1203	42	3	6431	3	USH2A	1	216011423	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	24339	216011423	33239198	30	10579											
MARK1	4139	genome.wustl.edu	37	chr1	220825486	220825486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacggctctgaagcttaccGgcctgggtaatgtgttggtt	7	12	14	8	2	1	2	0	1	1	1	1	2	1	2	2	4	2	5	2	4	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:220825486G>T	ENST00000366917.4	+	15	1996	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	MARK1_ENST00000402574.1_Missense_Mutation_p.R442L|MARK1_ENST00000366918.4_Missense_Mutation_p.R555L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAGCTTACCGGCCTGGGTAA	0.438																																																	0													122	114	117					1																	220825486		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1730G>T	1.37:g.220825486G>T	ENSP00000355884:p.Arg577Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R577L	ENST00000366917.4	37	c.1730	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802659	0.70682	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.28666	1.6;1.6;1.6	5.74	5.74	0.90152	.	0.143972	0.49305	D	0.000149	T	0.32041	0.0816	L	0.46157	1.445	0.48511	D	0.999668	B;B;B;B	0.30104	0.268;0.081;0.0;0.001	B;B;B;B	0.25506	0.061;0.045;0.002;0.001	T	0.04781	-1.0927	10	0.51188	T	0.08	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	577;442;577;555	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	442;555;577	ENSP00000386017:R442L;ENSP00000355885:R555L;ENSP00000355884:R577L	ENSP00000355884:R577L	R	+	2	0	MARK1	218892109	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.861000	0.69553	2.873000	0.98535	0.563000	0.77884	CGG	MARK1	-	NULL	ENSG00000116141		0.438	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	55	0	G			220825486	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	220825486	G	T	220825486	3	4	44	1	0	0	0	0	1	0	0	0	9350	1116	39	2	1788	2	MARK1	1	220825486	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	4814063	220825486	28425135	31	10580											
HLX	3142	genome.wustl.edu	37	chr1	221055546	221055546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggacaccatgccgcagacGtacaaaaggaagcgttcatg	15	5	11	10	3	1	1	1	0	0	1	1	3	1	3	2	2	3	3	2	2	5	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:221055546G>A	ENST00000366903.6	+	3	2314	c.813G>A	c.(811-813)acG>acA	p.T271T	HLX_ENST00000549319.1_Silent_p.T57T|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	271					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TGCCGCAGACGTACAAAAGGA	0.562																																																	0													68	55	59					1																	221055546		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.813G>A	1.37:g.221055546G>A			B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.T271	ENST00000366903.6	37	c.813	CCDS1527.1	1																																																																																			HLX	-	superfamily_Homeodomain-like	ENSG00000136630		0.562	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3		0	45	0	G	NM_021958		221055546	1			no_errors	ENST00000366903	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.001	A	A	221055546	G	A	221055546	2	1	44	1	0	0	0	0	0	0	0	1	7243	1132	40	1		1	HLX	1	221055546	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	230060	221055546	28195075	32	10581											
HHIPL2	79802	genome.wustl.edu	37	chr1	222712025	222712025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagatatacaggccattGagatttggggattcacaacc	14	9	9	9	0	1	2	1	1	0	2	1	4	1	3	3	3	2	0	3	3	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:222712025G>A	ENST00000343410.6	-	5	1600	c.1542C>T	c.(1540-1542)ctC>ctT	p.L514L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	514					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACAGGCCATTGAGATTTGGGG	0.423																																																	0													117	100	106					1																	222712025		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"KIAA1822-like"	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1542C>T	1.37:g.222712025G>A			Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like	p.L514	ENST00000343410.6	37	c.1542	CCDS1530.2	1																																																																																			HHIPL2	-	pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH	ENSG00000143512		0.423	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL2	HGNC	protein_coding	OTTHUMT00000091499.2	-	0	37	0	G	NM_024746		222712025	-1	tier1	-	no_errors	ENST00000343410	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.936	A	A	222712025	G	A	222712025	2	1	44	1	0	0	0	0	0	0	0	1	7121	1277	45	3		3	HHIPL2	1	222712025	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1656479	222712025	26538596	33	10582											
FMN2	56776	genome.wustl.edu	37	chr1	240256817	240256817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccccggccaagaagcacCgggccgacggcggccttgcg	6	2	15	18	7	0	1	0	0	0	1	0	2	0	1	7	4	2	1	7	4	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:240256817C>T	ENST00000319653.9	+	1	1638	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	470					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAGAAGCACCGGGCCGACGG	0.736																																																	0													12	16	15					1																	240256817		2158	4191	6349	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1408C>T	1.37:g.240256817C>T	ENSP00000318884:p.Arg470Trp		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.R470W	ENST00000319653.9	37	c.1408	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107057	0.37145	.	.	ENSG00000155816	ENST00000319653	T	0.77750	-1.12	4.61	2.53	0.30540	.	0.304425	0.25863	N	0.027819	T	0.76407	0.3983	L	0.34521	1.04	0.58432	D	0.999994	D	0.76494	0.999	P	0.56434	0.798	T	0.78145	-0.2318	10	0.87932	D	0	.	11.0168	0.47693	0.5856:0.4144:0.0:0.0	.	470	Q9NZ56	FMN2_HUMAN	W	470	ENSP00000318884:R470W	ENSP00000318884:R470W	R	+	1	2	FMN2	238323440	1.000000	0.71417	0.864000	0.33941	0.941000	0.58515	2.541000	0.45735	1.127000	0.42034	0.563000	0.77884	CGG	FMN2	-	NULL	ENSG00000155816		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0	30	0	C	XM_371352		240256817	1			no_errors	ENST00000319653	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.742	T	T	240256817	C	T	240256817	3	4	44	1	0	0	0	0	1	0	0	0	5972	643	23	1	1410	1	FMN2	1	240256817	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	17544792	240256817	8993804	34	10583											
KIF26B	55083	genome.wustl.edu	37	chr1	245851229	245851231	+	In_Frame_Del	DEL	CAG	CAG	-																															agcggcaagacgaaggacgcCagcagcagcagcaagctctt																								rs376944873		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:245851229_245851231delCAG	ENST00000407071.2	+	12	5384_5386	c.4944_4946delCAG	c.(4942-4947)gccagc>gcc	p.S1652del	KIF26B_ENST00000366518.4_In_Frame_Del_p.S1271del	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1652	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGAAGGACGCCAGCAGCAGCAGC	0.665																																																	0										40,3764		1,38,1863						2.5	0			11	112,7748		2,108,3820	no	coding	KIF26B	NM_018012.3		3,146,5683	A1A1,A1R,RR		1.4249,1.0515,1.3032				152,11512				SO:0001651	inframe_deletion	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4944_4946delCAG	1.37:g.245851238_245851240delCAG	ENSP00000385545:p.Ser1652del		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	In_Frame_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1652in_frame_del	ENST00000407071.2	37	c.4944_4946	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.665	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0	32	0	CAG	XM_371354		245851231	1	tier1		no_errors	ENST00000407071	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	0.206:0.210:0.240	-	-	245851231	CAG	-	245851229	7	5	44	1	0	1	0	1	0	0	0	0	8322	581	21	0	4990	0	KIF26B	1	245851229	In_Frame_Del	DEL	CAG	TCGA-JY-A93D-01A-11D-A387-09	5594412	245851229	3399392	35	10584											
OR2C3	81472	genome.wustl.edu	37	chr1	247695607	247695607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgaagctcatgtccagGaaggggaggttggcaagaaa	12	7	17	5	0	1	2	1	1	0	1	2	4	2	4	1	6	1	3	1	6	4	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:247695607G>T	ENST00000366487.3	-	2	568	c.207C>A	c.(205-207)ttC>ttA	p.F69L	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCATGTCCAGGAAGGGGAGGT	0.512																																																	0													135	121	125					1																	247695607		2203	4300	6503	SO:0001583	missense	0			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.207C>A	1.37:g.247695607G>T	ENSP00000355443:p.Phe69Leu		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F69L	ENST00000366487.3	37	c.207	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605618	0.46527	.	.	ENSG00000196242	ENST00000366487	T	0.00966	5.49	4.04	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.188302	0.25555	N	0.029877	T	0.01061	0.0035	L	0.45051	1.395	0.24466	N	0.99442	B	0.20887	0.049	B	0.17433	0.018	T	0.45131	-0.9282	10	0.38643	T	0.18	.	8.028	0.30448	0.2028:0.0:0.7972:0.0	.	69	Q8N628	OR2C3_HUMAN	L	69	ENSP00000355443:F69L	ENSP00000355443:F69L	F	-	3	2	OR2C3	245762230	0.000000	0.05858	1.000000	0.80357	0.732000	0.41865	-0.387000	0.07361	0.485000	0.27652	-0.142000	0.14014	TTC	OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196242		0.512	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	-	0	72	0	G	NM_198074		247695607	-1	tier1	-	no_errors	ENST00000366487	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.998	T	T	247695607	G	T	247695607	3	4	44	1	0	0	0	0	1	0	0	0	11032	1165	41	3	759	3	OR2C3	1	247695607	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1844378	247695607	1555014	36	10585											
OR2M4	26245	genome.wustl.edu	37	chr1	248403118	248403118	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagcctccgcaacaaagaAgtgttcagggcactacagaa	15	7	9	10	1	1	2	1	0	0	2	2	2	2	2	2	1	3	3	2	1	7	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:248403118A>C	ENST00000306687.1	+	1	888	c.888A>C	c.(886-888)gaA>gaC	p.E296D		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAACAAAGAAGTGTTCAGGG	0.418																																																	0													70	65	67					1																	248403118		2203	4300	6503	SO:0001583	missense	0			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"GPCR / Class A : Olfactory receptors"	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.888A>C	1.37:g.248403118A>C	ENSP00000306688:p.Glu296Asp		Q15611|Q8NG82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E296D	ENST00000306687.1	37	c.888	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	a	0.013	-1.620594	0.00828	.	.	ENSG00000171180	ENST00000306687	T	0.37411	1.2	3.34	-4.11	0.03928	.	0.162849	0.28393	N	0.015513	T	0.13372	0.0324	N	0.11560	0.145	0.09310	N	0.99999	B	0.23735	0.09	B	0.23574	0.047	T	0.29397	-1.0013	10	0.12430	T	0.62	.	7.429	0.27115	0.6311:0.1309:0.238:0.0	.	296	Q96R27	OR2M4_HUMAN	D	296	ENSP00000306688:E296D	ENSP00000306688:E296D	E	+	3	2	OR2M4	246469741	0.000000	0.05858	0.046000	0.18839	0.069000	0.16628	-2.278000	0.01159	-1.119000	0.02958	-0.427000	0.05922	GAA	OR2M4	-	prints_GPCR_Rhodpsn	ENSG00000171180		0.418	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M4	HGNC	protein_coding	OTTHUMT00000097352.1	-	0	28	0	A	NM_017504		248403118	1	tier1	-	no_errors	ENST00000306687	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.462	C	C	248403118	A	C	248403118	3	2	44	1	0	0	0	0	1	0	0	0	11051	69	3	4	890	4	OR2M4	1	248403118	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	707511	248403118	847503	37	10586											
OR2T6	254879	genome.wustl.edu	37	chr1	248551763	248551763	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccatcctcacacccttatTaaaccctctcatctacagtc	11	12	1	17	0	3	0	2	0	2	0	6	0	4	0	4	0	3	0	4	0	5	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr1:248551763T>G	ENST00000355728.2	+	1	854	c.854T>G	c.(853-855)tTa>tGa	p.L285*		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACCCTTATTAAACCCTCTC	0.463																																																	0													91	89	90					1																	248551763		2203	4300	6503	SO:0001587	stop_gained	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.854T>G	1.37:g.248551763T>G	ENSP00000347965:p.Leu285*		A6NE36	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L285*	ENST00000355728.2	37	c.854	CCDS31114.1	1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980776	0.74474	.	.	ENSG00000198104	ENST00000355728	.	.	.	4.2	4.2	0.49525	.	0.000000	0.34906	N	0.003588	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.3949	0.60846	0.0:0.0:0.0:1.0	.	.	.	.	X	285	.	ENSP00000347965:L285X	L	+	2	0	OR2T6	246618386	0.894000	0.30519	0.595000	0.28798	0.815000	0.46073	6.783000	0.75078	1.888000	0.54679	0.523000	0.50628	TTA	OR2T6	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198104		0.463	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	-	0	39	0	T	NM_001005471		248551763	1	tier1	-	no_errors	ENST00000355728	ensembl	human	known	74_37	nonsense	33.33	24	12	SNP	0.740	G	G	248551763	T	G	248551763	4	3	44	1	0	0	0	0	0	1	0	0	11068	1764	61	4	856	4	OR2T6	1	248551763	Nonsense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	148645	248551763	698858	38	10587											
TPO	7173	genome.wustl.edu	37	chr2	1459924	1459924	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgctattctgacctccTgatggcatggggacaataca	10	10	10	11	1	1	3	0	3	1	0	2	4	2	4	3	3	1	2	3	3	3	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:1459924T>G	ENST00000345913.4	+	7	780	c.689T>G	c.(688-690)cTg>cGg	p.L230R	TPO_ENST00000329066.4_Missense_Mutation_p.L230R|TPO_ENST00000382201.3_Missense_Mutation_p.L230R|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.L230R|TPO_ENST00000346956.3_Missense_Mutation_p.L230R|TPO_ENST00000337415.3_Missense_Mutation_p.L230R|TPO_ENST00000349624.3_Missense_Mutation_p.L230R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	230					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TCTGACCTCCTGATGGCATGG	0.532																																																	0													125	89	101					2																	1459924		2203	4300	6503	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.689T>G	2.37:g.1459924T>G	ENSP00000318820:p.Leu230Arg		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L230R	ENST00000345913.4	37	c.689	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021526	0.54576	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.04	5.04	0.67666	.	0.240667	0.38720	N	0.001590	D	0.87716	0.6247	M	0.93241	3.395	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.79784	0.989;0.976;0.984;0.993	D	0.91076	0.4896	10	0.87932	D	0	-21.5164	15.0595	0.71942	0.0:0.0:0.0:1.0	.	230;230;230;230	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	R	230;230;230;230;230;230;230;159	ENSP00000337263:L230R;ENSP00000318820:L230R;ENSP00000263886:L230R;ENSP00000332044:L230R;ENSP00000329869:L230R;ENSP00000371636:L230R;ENSP00000371633:L230R;ENSP00000405788:L159R	ENSP00000329869:L230R	L	+	2	0	TPO	1438931	1.000000	0.71417	0.626000	0.29213	0.059000	0.15707	7.133000	0.77259	2.010000	0.58986	0.460000	0.39030	CTG	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	ENSG00000115705		0.532	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0	42	0	T	NM_000547		1459924	1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	G	G	1459924	T	G	1459924	3	3	44	1	0	0	0	0	1	0	0	0	16458	1580	55	4	711	4	TPO	2	1459924	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09		1459924	241739449	39	10588											
PXDN	7837	genome.wustl.edu	37	chr2	1668815	1668815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctcaataacgactctGtcctgaggcgtcacagtgaa	10	9	10	12	2	3	2	2	2	1	0	4	3	4	2	2	2	1	0	2	2	3	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:1668815G>T	ENST00000252804.4	-	11	1373	c.1323C>A	c.(1321-1323)gaC>gaA	p.D441E	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	441	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TAACGACTCTGTCCTGAGGCG	0.547																																																	0													47	50	49					2																	1668815		1948	4151	6099	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1323C>A	2.37:g.1668815G>T	ENSP00000252804:p.Asp441Glu		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.D441E	ENST00000252804.4	37	c.1323	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.69|15.69	2.908682|2.908682	0.52439|0.52439	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	T|.	0.68765|.	-0.35|.	5.55|5.55	3.74|3.74	0.42951|0.42951	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.271361|.	0.41097|.	D|.	0.000952|.	T|T	0.70124|0.70124	0.3188|0.3188	M|M	0.69823|0.69823	2.125|2.125	0.42171|0.42171	D|D	0.99164|0.99164	P;P|.	0.39696|.	0.538;0.683|.	P;P|.	0.53593|.	0.492;0.73|.	T|T	0.70622|0.70622	-0.4821|-0.4821	10|5	0.66056|.	D|.	0.02|.	-49.9523|-49.9523	11.7026|11.7026	0.51579|0.51579	0.1428:0.0:0.8572:0.0|0.1428:0.0:0.8572:0.0	.|.	441;441|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	E|K	441|437	ENSP00000252804:D441E|.	ENSP00000252804:D441E|.	D|T	-|-	3|2	2|0	PXDN|PXDN	1647822|1647822	1.000000|1.000000	0.71417|0.71417	0.149000|0.149000	0.22428|0.22428	0.104000|0.104000	0.19210|0.19210	2.883000|2.883000	0.48554|0.48554	1.339000|1.339000	0.45563|0.45563	0.563000|0.563000	0.77884|0.77884	GAC|ACA	PXDN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000130508		0.547	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	76	0	G	XM_056455		1668815	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	30.14	51	22	SNP	1.000	T	T	1668815	G	T	1668815	3	4	44	1	0	0	0	0	1	0	0	0	12892	1368	48	3	3168	3	PXDN	2	1668815	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	208891	1668815	241530558	40	10589											
MYT1L	23040	genome.wustl.edu	37	chr2	1926321	1926321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtatcgtcgtcccgcTcatgacacccatcctccttc	6	11	8	16	3	1	1	1	1	0	0	7	1	4	1	4	2	0	2	4	2	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:1926321T>C	ENST00000399161.2	-	10	1967	c.1220A>G	c.(1219-1221)gAg>gGg	p.E407G	MYT1L_ENST00000428368.2_Missense_Mutation_p.E407G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	407					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTCGTCCCGCTCATGACACCC	0.572																																																	0													68	68	68					2																	1926321		2144	4247	6391	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1220A>G	2.37:g.1926321T>C	ENSP00000382114:p.Glu407Gly		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E407G	ENST00000399161.2	37	c.1220		2	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381381	0.42207	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.54071	0.59;0.59	5.97	4.82	0.62117	.	0.351636	0.36338	N	0.002651	T	0.43100	0.1232	L	0.27053	0.805	0.52099	D	0.999946	P;P	0.52316	0.919;0.952	B;B	0.43916	0.253;0.436	T	0.44236	-0.9341	10	0.87932	D	0	-23.3261	12.0589	0.53550	0.0:0.0669:0.0:0.9331	.	407;407	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	G	407;355;407	ENSP00000382114:E407G;ENSP00000396103:E407G	ENSP00000295067:E355G	E	-	2	0	MYT1L	1905328	1.000000	0.71417	0.275000	0.24674	0.256000	0.26092	3.485000	0.53208	1.090000	0.41315	0.533000	0.62120	GAG	MYT1L	-	NULL	ENSG00000186487		0.572	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	51	0	T	NM_015025		1926321	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	C	C	1926321	T	C	1926321	3	2	44	1	0	0	0	0	1	0	0	0	10145	1551	54	4	2398	4	MYT1L	2	1926321	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	257506	1926321	241273052	41	10590											
APOB	338	genome.wustl.edu	37	chr2	21242612	21242612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctggtgtccccggtcagCggatagtaggaggcggagtc	8	7	16	10	3	1	0	1	0	0	0	3	3	2	3	3	6	2	1	3	6	3	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:21242612C>T	ENST00000233242.1	-	19	3109	c.2982G>A	c.(2980-2982)ccG>ccA	p.P994P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	994					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.P994P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCGGTCAGCGGATAGTAGG	0.537																																																	1	Substitution - coding silent(1)	large_intestine(1)											85	75	79					2																	21242612		2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2982G>A	2.37:g.21242612C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P994	ENST00000233242.1	37	c.2982	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell	ENSG00000084674		0.537	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	98	0	C			21242612	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	silent	6.12	92	6	SNP	0.510	T	T	21242612	C	T	21242612	2	4	44	1	0	0	0	0	0	0	0	1	785	755	27	1		1	APOB	2	21242612	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	19316291	21242612	221956761	42	10591											
LBH	81606	genome.wustl.edu	37	chr2	30457270	30457270	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgggtttcttggcaGccccgactatctgagatcgg	5	13	13	10	2	3	1	0	1	3	1	4	3	3	1	2	4	1	2	2	4	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:30457270G>A	ENST00000395323.3	+	2	234		c.e2-1		LBH_ENST00000401506.1_Splice_Site|LBH_ENST00000467242.1_Splice_Site|LBH_ENST00000407930.2_Splice_Site|LBH_ENST00000404397.1_Splice_Site|LBH_ENST00000406087.1_Splice_Site	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGGCAGCCCCGACTAT	0.542																																																	0													133	112	119					2																	30457270		2203	4300	6503	SO:0001630	splice_region_variant	0			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"limb bud and heart development homolog (mouse)"			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.27-1G>A	2.37:g.30457270G>A			B2RBC2|Q9H0Q1	Splice_Site	SNP	-	e2-1	ENST00000395323.3	37	c.27-1	CCDS33173.1	2	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321824	0.60634	.	.	ENSG00000213626	ENST00000395323;ENST00000406087;ENST00000404397;ENST00000401506	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6316	0.68660	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LBH	30310774	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.091000	0.76923	2.028000	0.59812	0.455000	0.32223	.	LBH	-	-	ENSG00000213626		0.542	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	HGNC	protein_coding	OTTHUMT00000325091.1		0	91	0	G	NM_030915	Intron	30457270	1			no_errors	ENST00000395323	ensembl	human	known	74_37	splice_site	6.35	59	4	SNP	1.000	A	A	30457270	G	A	30457270	5	1	44	1	0	0	0	0	0	0	1	0	8678	985	34	3	32	3	LBH	2	30457270	Splice_Site	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	9214658	30457270	212742103	43	10592											
BIRC6	57448	genome.wustl.edu	37	chr2	32640137	32640137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctcacaggtcactggatgGtttaagcagaactcagggtg	10	11	12	8	0	3	1	3	0	1	1	4	2	3	2	0	4	2	2	0	4	2	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:32640137G>A	ENST00000421745.2	+	10	1912	c.1778G>A	c.(1777-1779)gGt>gAt	p.G593D		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	593					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCACTGGATGGTTTAAGCAGA	0.393																																					Pancreas(94;175 1509 16028 18060 45422)												0													59	59	59					2																	32640137		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1778G>A	2.37:g.32640137G>A	ENSP00000393596:p.Gly593Asp		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.G593D	ENST00000421745.2	37	c.1778	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	8.693	0.907787	0.17833	.	.	ENSG00000115760	ENST00000421745	T	0.74632	-0.86	5.07	4.16	0.48862	.	0.408702	0.26522	N	0.023907	T	0.50257	0.1605	N	0.08118	0	0.31679	N	0.643363	B	0.02656	0.0	B	0.01281	0.0	T	0.49523	-0.8931	10	0.17369	T	0.5	.	8.7287	0.34485	0.0771:0.2893:0.6337:0.0	.	593	Q9NR09	BIRC6_HUMAN	D	593	ENSP00000393596:G593D	ENSP00000393596:G593D	G	+	2	0	BIRC6	32493641	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.703000	0.47110	1.214000	0.43395	0.650000	0.86243	GGT	BIRC6	-	NULL	ENSG00000115760		0.393	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	38	0	G	NM_016252		32640137	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.983	A	A	32640137	G	A	32640137	3	1	44	1	0	0	0	0	1	0	0	0	1440	1261	44	3	1816	3	BIRC6	2	32640137	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2182867	32640137	210559236	44	10593											
THADA	63892	genome.wustl.edu	37	chr2	43802152	43802152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagacagaaacatttccagcGttggctctttaatcctgaag	12	12	8	9	1	1	3	0	1	1	2	3	3	3	3	2	1	2	2	2	1	4	5	rs138256193		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:43802152G>A	ENST00000405006.4	-	11	1403	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	THADA_ENST00000405975.2_Missense_Mutation_p.T351M|THADA_ENST00000415080.2_Missense_Mutation_p.T61M|THADA_ENST00000330266.7_Missense_Mutation_p.T61M|THADA_ENST00000404790.1_Missense_Mutation_p.T351M|THADA_ENST00000403856.1_Missense_Mutation_p.T351M|THADA_ENST00000402360.2_Missense_Mutation_p.T351M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	351								p.T351M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CATTTCCAGCGTTGGCTCTTT	0.363													G|||	1	0.000199681	0	0	5008	,	,		16807	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)						G	MET/THR,MET/THR	1,3631		0,1,1815	96	94	94		1052,1052	4.7	1	2	dbSNP_134	94	3,8145		0,3,4071	yes	missense,missense	THADA	NM_001083953.1,NM_022065.4	81,81	0,4,5886	AA,AG,GG		0.0368,0.0275,0.034	possibly-damaging,possibly-damaging	351/1954,351/1954	43802152	4,11776	1816	4074	5890	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1052C>T	2.37:g.43802152G>A	ENSP00000385995:p.Thr351Met		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.T351M	ENST00000405006.4	37	c.1052	CCDS46268.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.14	3.769643	0.69992	2.75E-4	3.68E-4	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.65178	1.44;1.44;2.67;1.44;-0.14;-0.14;1.44	5.63	4.73	0.59995	.	0.047096	0.85682	D	0.000000	T	0.74465	0.3720	L	0.57536	1.79	0.39859	D	0.973355	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.999	D;P;P;P;P	0.68621	0.959;0.862;0.899;0.794;0.791	T	0.77710	-0.2486	10	0.72032	D	0.01	1.7807	14.8661	0.70416	0.0:0.2688:0.7312:0.0	.	351;351;351;61;351	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	M	61;351;351;61;351;351;351;351	ENSP00000331105:T61M;ENSP00000386088:T351M;ENSP00000416048:T61M;ENSP00000385995:T351M;ENSP00000385441:T351M;ENSP00000384266:T351M;ENSP00000385469:T351M	ENSP00000331105:T61M	T	-	2	0	THADA	43655656	0.998000	0.40836	0.994000	0.49952	0.944000	0.59088	2.198000	0.42705	2.658000	0.90341	0.561000	0.74099	ACG	THADA	-	NULL	ENSG00000115970		0.363	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3		0	30	0	G	NM_022065		43802152	-1			no_errors	ENST00000405006	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.997	A	A	43802152	G	A	43802152	3	1	44	1	0	0	0	0	1	0	0	0	15887	1145	40	1	4921	1	THADA	2	43802152	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	11162015	43802152	199397221	45	10594											
FSHR	2492	genome.wustl.edu	37	chr2	49190059	49190059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaatgaagaaatctctgCgaaagtttttggtaaagatg	15	11	11	4	1	1	4	0	1	1	3	2	5	1	4	0	1	1	3	0	1	6	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:49190059C>T	ENST00000406846.2	-	10	2020	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	FSHR_ENST00000541117.1_Missense_Mutation_p.R370H|FSHR_ENST00000346173.3_Missense_Mutation_p.R572H|FSHR_ENST00000304421.4_Missense_Mutation_p.R608H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	634					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GAAATCTCTGCGAAAGTTTTT	0.453									Gonadal Dysgenesis, 46 XX																																								0													79	81	80					2																	49190059		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1901G>A	2.37:g.49190059C>T	ENSP00000384708:p.Arg634His		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.R634H	ENST00000406846.2	37	c.1901	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830299	0.71258	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.35	5.35	0.76521	.	0.122723	0.52532	D	0.000068	T	0.79299	0.4422	M	0.91510	3.215	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.82733	-0.0311	9	.	.	.	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	608;572;634	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	H	634;572;608;370	ENSP00000384708:R634H;ENSP00000333908:R572H;ENSP00000306780:R608H;ENSP00000444172:R370H	.	R	-	2	0	FSHR	49043563	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.520000	0.60524	2.941000	0.99782	0.655000	0.94253	CGC	FSHR	-	prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	ENSG00000170820		0.453	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0	61	0	C			49190059	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	T	T	49190059	C	T	49190059	3	4	44	1	0	0	0	0	1	0	0	0	6097	768	27	1	190	1	FSHR	2	49190059	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	5387907	49190059	194009314	46	10595											
SPTBN1	6711	genome.wustl.edu	37	chr2	54864938	54864938	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgcaagattgtcaaGaggtatgttactctttaatc	12	15	7	7	0	2	2	1	0	1	2	4	2	3	2	1	1	2	3	1	1	6	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:54864938G>T	ENST00000356805.4	+	18	4137	c.3856G>T	c.(3856-3858)Gag>Tag	p.E1286*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.E1273*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1286					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGATTGTCAAGAGGTATGTTA	0.383																																																	0													145	147	146					2																	54864938		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3856G>T	2.37:g.54864938G>T	ENSP00000349259:p.Glu1286*		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1286*	ENST00000356805.4	37	c.3856	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	47	13.009946	0.99713	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7706	0.96363	0.0:0.0:1.0:0.0	.	.	.	.	X	1286;1273	.	ENSP00000334156:E1273X	E	+	1	0	SPTBN1	54718442	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.783000	0.99037	2.697000	0.92050	0.655000	0.94253	GAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.383	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	-	0	54	0	G			54864938	1	tier1	-	no_errors	ENST00000356805	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	1.000	T	T	54864938	G	T	54864938	4	4	44	1	0	0	0	0	0	1	0	0	15166	943	33	3	4035	3	SPTBN1	2	54864938	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	5674879	54864938	188334435	47	10596											
SCN2A	6326	genome.wustl.edu	37	chr2	166245699	166245699	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctctgagtgaggatgacTttgagatgttctatgaggtt	9	14	13	5	0	2	5	0	5	2	1	2	7	2	6	1	2	1	2	1	2	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:166245699T>A	ENST00000375437.2	+	27	5673	c.5383T>A	c.(5383-5385)Ttt>Att	p.F1795I	SCN2A_ENST00000357398.3_Missense_Mutation_p.F1795I|SCN2A_ENST00000283256.6_Missense_Mutation_p.F1795I|SCN2A_ENST00000375427.2_Missense_Mutation_p.F1795I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1795					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGAGGATGACTTTGAGATGTT	0.468																																																	0													90	94	93					2																	166245699		2203	4297	6500	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5383T>A	2.37:g.166245699T>A	ENSP00000364586:p.Phe1795Ile		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.F1795I	ENST00000375437.2	37	c.5383	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.979676	0.74360	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96011	-3.88;-3.88;-3.88;-3.88	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	D	0.97483	0.9176	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;0.965	D;D	0.97110	1.0;0.984	D	0.98186	1.0460	10	0.87932	D	0	.	16.3507	0.83204	0.0:0.0:0.0:1.0	.	1795;1795	Q99250-2;Q99250	.;SCN2A_HUMAN	I	1795	ENSP00000364586:F1795I;ENSP00000349973:F1795I;ENSP00000283256:F1795I;ENSP00000364576:F1795I	ENSP00000283256:F1795I	F	+	1	0	SCN2A	165953945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.963000	0.87922	2.319000	0.78375	0.524000	0.50904	TTT	SCN2A	-	prints_Na_channel_asu	ENSG00000136531		0.468	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	82	0	T	NM_021007		166245699	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	23.75	61	19	SNP	1.000	A	A	166245699	T	A	166245699	3	1	44	1	0	0	0	0	1	0	0	0	13961	1609	56	5	5581	5	SCN2A	2	166245699	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	111380761	166245699	76953674	48	10597											
TTN	7273	genome.wustl.edu	37	chr2	179393711	179393711	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttttagtgatttcctcatgGacaatggatttttccaggga	9	16	10	6	0	1	1	1	1	0	0	3	4	3	4	2	3	0	1	2	3	2	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:179393711G>T	ENST00000591111.1	-	310	102068	c.101844C>A	c.(101842-101844)gtC>gtA	p.V33948V	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.V26524V|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.V26649V|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000589042.1_Silent_p.V35589V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.V33021V|TTN_ENST00000342175.6_Silent_p.V26716V|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588244.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33948					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCTCATGGACAATGGATT	0.393																																																	0													131	119	123					2																	179393711		1867	4100	5967	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101844C>A	2.37:g.179393711G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V33021	ENST00000591111.1	37	c.99063		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	84	0	G	NM_133378		179393711	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	5.33	71	4	SNP	1.000	T	T	179393711	G	T	179393711	2	4	44	1	0	0	0	0	0	0	0	1	16784	1161	41	3		3	TTN	2	179393711	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	13148012	179393711	63805662	49	10598											
TTN	7273	genome.wustl.edu	37	chr2	179437626	179437626	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttggagttccaggaacaagGgcaggttccccaagtccttc	9	10	11	11	0	0	0	0	0	0	0	4	2	3	2	4	4	1	3	4	4	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:179437626G>T	ENST00000591111.1	-	276	68534	c.68310C>A	c.(68308-68310)gcC>gcA	p.A22770A	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.A15346A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A15471A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A24411A|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.A21843A|TTN_ENST00000342175.6_Silent_p.A15538A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22770	Fibronectin type-III 65. {ECO:0000255|PROSITE-ProRule:PRU00316}.		A -> D. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAACAAGGGCAGGTTCCC	0.483																																																	0													86	87	87					2																	179437626		1950	4147	6097	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.68310C>A	2.37:g.179437626G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A21843	ENST00000591111.1	37	c.65529		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.483	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	25	0	G	NM_133378		179437626	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.550	T	T	179437626	G	T	179437626	2	4	44	1	0	0	0	0	0	0	0	1	16784	1219	43	3		3	TTN	2	179437626	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	43915	179437626	63761747	50	10599											
DNAH7	56171	genome.wustl.edu	37	chr2	196729724	196729724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtattgtccagaaggcGgtcataatacactcgaagga	12	10	11	8	2	2	1	1	0	1	1	4	3	3	2	1	3	1	1	1	3	5	4	rs375752812		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:196729724G>A	ENST00000312428.6	-	41	6755	c.6655C>T	c.(6655-6657)Cgc>Tgc	p.R2219C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2219					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCAGAAGGCGGTCATAATAC	0.333																																																	0								G	CYS/ARG	0,3626		0,0,1813	70	67	68		6655	5.5	1	2		68	1,8147		0,1,4073	no	missense	DNAH7	NM_018897.2	180	0,1,5886	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	2219/4025	196729724	1,11773	1813	4074	5887	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6655C>T	2.37:g.196729724G>A	ENSP00000311273:p.Arg2219Cys		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R2219C	ENST00000312428.6	37	c.6655	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329769	0.60743	0.0	1.23E-4	ENSG00000118997	ENST00000312428	T	0.46819	0.86	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86347	0.1708	10	0.87932	D	0	.	18.9883	0.92780	0.0:0.0:1.0:0.0	.	2219	Q8WXX0	DYH7_HUMAN	C	2219	ENSP00000311273:R2219C	ENSP00000311273:R2219C	R	-	1	0	DNAH7	196437969	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	9.558000	0.98132	2.601000	0.87937	0.558000	0.71614	CGC	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.333	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	39	0	G	NM_018897		196729724	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	196729724	G	A	196729724	3	1	44	1	0	0	0	0	1	0	0	0	4620	1116	39	1	5519	1	DNAH7	2	196729724	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	17292098	196729724	46469649	51	10600											
VIL1	7429	genome.wustl.edu	37	chr2	219290359	219290359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaagacagccagcagcCtgtcctatgacatccactac	12	7	6	16	0	0	2	0	1	0	1	3	2	3	2	5	0	4	1	5	0	3	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:219290359C>A	ENST00000248444.5	+	4	260	c.172C>A	c.(172-174)Ctg>Atg	p.L58M	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.L58M	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	58	Core.|Necessary for homodimerization.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.L58L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCAGCAGCCTGTCCTATGA	0.582																																																	1	Substitution - coding silent(1)	lung(1)											69	62	64					2																	219290359		2203	4300	6503	SO:0001583	missense	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.172C>A	2.37:g.219290359C>A	ENSP00000248444:p.Leu58Met		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.L58M	ENST00000248444.5	37	c.172	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062109	0.36373	.	.	ENSG00000127831	ENST00000248444;ENST00000454069;ENST00000440053	T;T;T	0.19532	2.14;2.14;2.14	4.53	2.7	0.31948	Gelsolin domain (1);	0.080833	0.48286	D	0.000190	T	0.31389	0.0795	M	0.92604	3.325	0.26185	N	0.979673	B;B	0.29162	0.235;0.076	B;B	0.34991	0.193;0.079	T	0.44298	-0.9337	10	0.66056	D	0.02	-9.1013	2.6877	0.05112	0.2071:0.47:0.0:0.3229	.	58;58	Q96AC8;P09327	.;VILI_HUMAN	M	58	ENSP00000248444:L58M;ENSP00000412657:L58M;ENSP00000409270:L58M	ENSP00000248444:L58M	L	+	1	2	VIL1	218998603	0.000000	0.05858	0.991000	0.47740	0.969000	0.65631	0.116000	0.15561	0.519000	0.28406	0.555000	0.69702	CTG	VIL1	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000127831		0.582	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3		0	34	0	C	NM_007127		219290359	1			no_errors	ENST00000248444	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.977	A	A	219290359	C	A	219290359	3	1	44	1	0	0	0	0	1	0	0	0	17213	680	24	3	182	3	VIL1	2	219290359	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	22560635	219290359	23909014	52	10601											
ALPI	248	genome.wustl.edu	37	chr2	233323430	233323430	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgttcaactcaggcgtGcgaccagacgtgaatgagag	11	8	13	9	4	2	3	2	2	0	2	2	5	2	3	1	1	3	1	1	1	3	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:233323430G>T	ENST00000295463.3	+	10	1349	c.1272G>T	c.(1270-1272)gtG>gtT	p.V424V		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	424					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACTCAGGCGTGCGACCAGACG	0.642																																																	0													73	65	68					2																	233323430		2203	4300	6503	SO:0001819	synonymous_variant	0			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.1272G>T	2.37:g.233323430G>T			B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.V424	ENST00000295463.3	37	c.1272	CCDS2492.1	2																																																																																			ALPI	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163295		0.642	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2		0	74	0	G	NM_001631		233323430	1			no_errors	ENST00000295463	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	T	T	233323430	G	T	233323430	2	4	44	1	0	0	0	0	0	0	0	1	543	1306	46	3		3	ALPI	2	233323430	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	14033071	233323430	9875943	53	10602											
SH3BP4	23677	genome.wustl.edu	37	chr2	235950407	235950407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccgggggtgctgtccagCttcctgacaccagcatcagc	6	8	12	15	1	1	1	1	1	0	0	4	1	4	1	4	2	4	4	4	2	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:235950407C>T	ENST00000409212.1	+	4	1501	c.994C>T	c.(994-996)Ctt>Ttt	p.L332F	SH3BP4_ENST00000344528.4_Missense_Mutation_p.L332F|SH3BP4_ENST00000392011.2_Missense_Mutation_p.L332F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	332					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGCTGTCCAGCTTCCTGACAC	0.642																																																	0													32	37	35					2																	235950407		2202	4300	6502	SO:0001583	missense	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.994C>T	2.37:g.235950407C>T	ENSP00000386862:p.Leu332Phe		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L332F	ENST00000409212.1	37	c.994	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927523	0.52759	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.45668	0.89;0.89;0.89	5.79	5.79	0.91817	ZU5 (1);	0.118034	0.64402	D	0.000015	T	0.66723	0.2818	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.68700	-0.5339	10	0.87932	D	0	-9.4139	18.6073	0.91271	0.0:1.0:0.0:0.0	.	332;332	A8K594;Q9P0V3	.;SH3B4_HUMAN	F	332	ENSP00000375867:L332F;ENSP00000386862:L332F;ENSP00000340237:L332F	ENSP00000340237:L332F	L	+	1	0	SH3BP4	235615146	1.000000	0.71417	0.996000	0.52242	0.199000	0.23934	5.856000	0.69518	2.731000	0.93534	0.650000	0.86243	CTT	SH3BP4	-	pfam_ZU5	ENSG00000130147		0.642	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	-	0	28	0	C			235950407	1	tier1	-	no_errors	ENST00000344528	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	235950407	C	T	235950407	3	4	44	1	0	0	0	0	1	0	0	0	14291	797	28	3	1000	3	SH3BP4	2	235950407	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2626977	235950407	7248966	54	10603											
MLPH	79083	genome.wustl.edu	37	chr2	238402114	238402114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctcactgatgaagaggcCcagcatgtcttggaagttgt	11	10	12	8	0	2	3	1	2	1	1	2	4	2	4	1	2	2	3	1	2	3	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr2:238402114C>T	ENST00000264605.3	+	2	339	c.45C>T	c.(43-45)gcC>gcT	p.A15A	MLPH_ENST00000338530.4_Silent_p.A15A|MLPH_ENST00000410032.1_Silent_p.A15A|MLPH_ENST00000409373.1_Silent_p.A15A|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.A15A	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	15	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		ATGAAGAGGCCCAGCATGTCT	0.527																																																	0													180	176	177					2																	238402114		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.45C>T	2.37:g.238402114C>T			B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.A15	ENST00000264605.3	37	c.45	CCDS2518.1	2																																																																																			MLPH	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000115648		0.527	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2		0	64	0	C	NM_024101		238402114	1			no_errors	ENST00000264605	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.987	T	T	238402114	C	T	238402114	2	4	44	1	0	0	0	0	0	0	0	1	9671	610	22	3		3	MLPH	2	238402114	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2451707	238402114	4797259	55	10604											
CHL1	10752	genome.wustl.edu	37	chr3	382518	382518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaattgaccctcttgaaGtggaggagggagatccaatt	15	9	11	6	0	1	3	0	2	1	1	2	6	2	5	2	3	0	0	2	3	5	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:382518G>T	ENST00000256509.2	+	6	1069	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	CHL1_ENST00000397491.2_Missense_Mutation_p.V143L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.V143L(2)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCTCTTGAAGTGGAGGAGGG	0.368																																																	2	Substitution - Missense(2)	lung(2)											64	62	63					3																	382518		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.427G>T	3.37:g.382518G>T	ENSP00000256509:p.Val143Leu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V143L	ENST00000256509.2	37	c.427	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873756	0.91664	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000435603	T;T;T	0.80123	0.8;0.8;-1.34	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	M	0.80616	2.505	0.80722	D	1	D;P;D	0.89917	0.972;0.927;1.0	P;P;D	0.91635	0.851;0.634;0.999	D	0.88648	0.3180	10	0.33940	T	0.23	.	16.8964	0.86101	0.0:0.0:1.0:0.0	.	143;143;143	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	143	ENSP00000256509:V143L;ENSP00000380628:V143L;ENSP00000397445:V143L	ENSP00000256509:V143L	V	+	1	0	CHL1	357518	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	7.036000	0.76524	2.404000	0.81709	0.650000	0.86243	GTG	CHL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000134121		0.368	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2		0	44	0	G	NM_006614		382518	1			no_errors	ENST00000256509	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	382518	G	T	382518	3	4	44	1	0	0	0	0	1	0	0	0	3356	1029	36	3	441	3	CHL1	3	382518	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		382518	197639912	56	10605											
FGD5	152273	genome.wustl.edu	37	chr3	14965554	14965554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcccgctgtcttcaccccGcttctcgggcagtgcctttt	2	14	8	17	3	3	0	1	0	2	0	5	0	4	0	4	1	1	3	4	1	0	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:14965554G>T	ENST00000285046.5	+	17	4087	c.3977G>T	c.(3976-3978)cGc>cTc	p.R1326L	FGD5_ENST00000543601.1_Missense_Mutation_p.R1085L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1326					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTTCACCCCGCTTCTCGGGC	0.557																																																	0													84	84	84					3																	14965554		2041	4208	6249	SO:0001583	missense	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3977G>T	3.37:g.14965554G>T	ENSP00000285046:p.Arg1326Leu		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R1326L	ENST00000285046.5	37	c.3977	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913099	0.52439	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.11604	2.76;2.76	4.9	4.9	0.64082	.	0.000000	0.50627	D	0.000105	T	0.16854	0.0405	M	0.68317	2.08	0.58432	D	0.999998	B;B	0.18013	0.022;0.025	B;B	0.21360	0.019;0.034	T	0.02603	-1.1135	10	0.42905	T	0.14	-26.7201	18.0698	0.89403	0.0:0.0:1.0:0.0	.	1085;1326	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	L	1326;1085	ENSP00000285046:R1326L;ENSP00000445949:R1085L	ENSP00000285046:R1326L	R	+	2	0	FGD5	14940558	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	3.675000	0.54605	2.260000	0.74910	0.305000	0.20034	CGC	FGD5	-	NULL	ENSG00000154783		0.557	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1		0	50	0	G	NM_152536		14965554	1			no_errors	ENST00000285046	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	14965554	G	T	14965554	3	4	44	1	0	0	0	0	1	0	0	0	5858	1087	38	2	4043	2	FGD5	3	14965554	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	14583036	14965554	183056876	57	10606											
RBM15B	29890	genome.wustl.edu	37	chr3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-																															catggggctgaggaacggggCcaccaccaccaccaccacga																								rs147738916	byFrequency	TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	CCA	CCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggccac>ggc	p.H670del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	670	His-rich.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635																																																	0																																										SO:0001651	inframe_deletion	0			AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"RNA binding motif (RRM) containing"	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1992_1994delCCA	3.37:g.51430831_51430833delCCA	ENSP00000313890:p.His670del		A4QPG7|Q6QE19|Q9BV96	In_Frame_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.H668in_frame_del	ENST00000323686.4	37	c.1992_1994	CCDS33764.1	3																																																																																			RBM15B	-	NULL	ENSG00000179837		0.635	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM15B	HGNC	protein_coding	OTTHUMT00000346489.1		0	16	0	CCA	NM_013286		51430824	1	tier1		no_errors	ENST00000323686	ensembl	human	known	74_37	in_frame_del	12.50	14	2	DEL	1.000:1.000:0.998	-	-	51430824	CCA	-	51430822	7	5	44	1	0	1	0	1	0	0	0	0	13162	726	26	0	1994	0	RBM15B	3	51430822	In_Frame_Del	DEL	CCA	TCGA-JY-A93D-01A-11D-A387-09	36465268	51430822	146591608	58	10607											
VPRBP	9730	genome.wustl.edu	37	chr3	51452220	51452220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaagacaagatcatctgtaGgattaaaggtggcacagttc	14	11	10	6	0	2	2	1	0	1	2	3	3	2	3	0	3	0	3	0	3	5	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:51452220G>A	ENST00000335891.5	-	11	2357	c.2348C>T	c.(2347-2349)cCt>cTt	p.P783L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1232					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATCATCTGTAGGATTAAAGGT	0.428																																																	0													130	120	123					3																	51452220		1916	4136	6052	SO:0001583	missense	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2348C>T	3.37:g.51452220G>A	ENSP00000338857:p.Pro783Leu		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.P783L	ENST00000335891.5	37	c.2348		3	.	.	.	.	.	.	.	.	.	.	G	35	5.523677	0.96431	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.02197	4.4;4.4	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048362	0.85682	D	0.000000	T	0.09642	0.0237	M	0.83223	2.63	0.80722	D	1	P	0.40731	0.728	P	0.46076	0.503	T	0.00331	-1.1811	10	0.54805	T	0.06	-16.9253	20.3052	0.98627	0.0:0.0:1.0:0.0	.	1232	Q9Y4B6	VPRBP_HUMAN	L	803;783	ENSP00000393183:P803L;ENSP00000338857:P783L	ENSP00000338857:P783L	P	-	2	0	VPRBP	51427260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.814000	0.96858	0.650000	0.86243	CCT	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000145041		0.428	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding			0	38	0	G	NM_014703		51452220	-1			no_errors	ENST00000335891	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	A	A	51452220	G	A	51452220	3	1	44	1	0	0	0	0	1	0	0	0	17234	1000	35	3	856	3	VPRBP	3	51452220	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	21398	51452220	146570210	59	10608											
CBLB	868	genome.wustl.edu	37	chr3	105421029	105421029	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttccattgacatttGaactcgctgtgattccaggt	7	15	9	10	1	0	3	0	3	0	0	3	3	2	3	3	1	2	1	3	1	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:105421029G>T	ENST00000264122.4	-	12	2189	c.1868C>A	c.(1867-1869)tCa>tAa	p.S623*	CBLB_ENST00000403724.1_Nonsense_Mutation_p.S623*|CBLB_ENST00000394027.3_Nonsense_Mutation_p.S645*|CBLB_ENST00000405772.1_Nonsense_Mutation_p.S623*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	623	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATTGACATTTGAACTCGCTGT	0.502			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													129	127	128					3																	105421029		2203	4300	6503	SO:0001587	stop_gained	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1868C>A	3.37:g.105421029G>T	ENSP00000264122:p.Ser623*		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Nonsense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.S623*	ENST00000264122.4	37	c.1868	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	41	9.052328	0.99050	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	.	.	.	5.67	5.67	0.87782	.	0.466770	0.22152	N	0.063905	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.6088	17.9312	0.88998	0.0:0.0:1.0:0.0	.	.	.	.	X	6;623;645;623;623	.	ENSP00000264122:S623X	S	-	2	0	CBLB	106903719	0.998000	0.40836	0.706000	0.30403	0.462000	0.32619	4.995000	0.63908	2.663000	0.90544	0.536000	0.68110	TCA	CBLB	-	NULL	ENSG00000114423		0.502	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2		0	41	0	G	NM_170662		105421029	-1			no_errors	ENST00000264122	ensembl	human	known	74_37	nonsense	5.26	35	2	SNP	0.367	T	T	105421029	G	T	105421029	4	4	44	1	0	0	0	0	0	1	0	0	2708	1294	45	3	1112	3	CBLB	3	105421029	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	53968809	105421029	92601401	60	10609											
GSK3B	2932	genome.wustl.edu	37	chr3	119624622	119624622	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgattatttctaccaactGatccacaccactatcccctg	10	13	3	15	0	1	2	0	2	1	0	3	2	3	2	5	0	2	0	5	0	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:119624622G>A	ENST00000264235.8	-	7	1775	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	GSK3B_ENST00000316626.5_Nonsense_Mutation_p.Q265*	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)	p.Q265*(2)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TCTACCAACTGATCCACACCA	0.378																																																	2	Substitution - Nonsense(2)	lung(2)											274	288	283					3																	119624622		2203	4300	6503	SO:0001587	stop_gained	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.793C>T	3.37:g.119624622G>A	ENSP00000264235:p.Gln265*		D3DN89|Q9BWH3|Q9UL47	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q265*	ENST00000264235.8	37	c.793	CCDS54628.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.480426	0.97603	.	.	ENSG00000082701	ENST00000264235;ENST00000316626	.	.	.	4.99	4.11	0.48088	.	0.112285	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5724	13.0355	0.58867	0.0787:0.0:0.9213:0.0	.	.	.	.	X	265	.	ENSP00000264235:Q265X	Q	-	1	0	GSK3B	121107312	1.000000	0.71417	0.999000	0.59377	0.865000	0.49528	9.070000	0.93974	1.322000	0.45245	0.491000	0.48974	CAG	GSK3B	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000082701		0.378	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	-	0	53	0	G			119624622	-1	tier1	-	no_errors	ENST00000316626	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	A	A	119624622	G	A	119624622	4	1	44	1	0	0	0	0	0	1	0	0	6851	1299	45	3	532	3	GSK3B	3	119624622	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	14203593	119624622	78397808	61	10610											
KPNA1	3836	genome.wustl.edu	37	chr3	122180154	122180154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgataacttcatcaatagGagggttaggttctgtttccc	9	14	10	8	0	3	1	2	1	1	0	4	2	4	2	1	3	1	4	1	3	4	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:122180154G>T	ENST00000344337.6	-	5	525	c.349C>A	c.(349-351)Cct>Act	p.P117T	KPNA1_ENST00000466923.1_5'Flank	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	117					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCATCAATAGGAGGGTTAGGT	0.378																																					Melanoma(12;340 801 11196 19797)												0													69	70	70					3																	122180154		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.349C>A	3.37:g.122180154G>T	ENSP00000343701:p.Pro117Thr		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.P117T	ENST00000344337.6	37	c.349	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614906	0.87359	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.94101	3.495	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	D	0.88933	0.3374	10	0.87932	D	0	-12.5199	18.0465	0.89334	0.0:0.0:1.0:0.0	.	117	P52294	IMA1_HUMAN	T	117	ENSP00000343701:P117T;ENSP00000419890:P117T;ENSP00000417166:P117T;ENSP00000417319:P117T;ENSP00000419257:P117T	ENSP00000343701:P117T	P	-	1	0	KPNA1	123662844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.569000	0.98170	2.805000	0.96524	0.655000	0.94253	CCT	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1		0	59	0	G	NM_002264		122180154	-1			no_errors	ENST00000344337	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	122180154	G	T	122180154	3	4	44	1	0	0	0	0	1	0	0	0	8456	1174	41	3	1307	3	KPNA1	3	122180154	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2555532	122180154	75842276	62	10611											
KY	339855	genome.wustl.edu	37	chr3	134348480	134348480	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacgtttagccaaggagaacTtcttgagcagctggggcatg	10	10	13	8	1	1	2	0	1	1	1	1	3	1	2	1	3	5	4	1	3	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:134348480T>G	ENST00000423778.2	-	4	381	c.320A>C	c.(319-321)aAg>aCg	p.K107T	KY_ENST00000503669.1_Missense_Mutation_p.K107T|KY_ENST00000508956.1_Missense_Mutation_p.K86T|KY_ENST00000508041.1_5'Flank	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	107					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAAGGAGAACTTCTTGAGCAG	0.532																																																	0													99	99	99					3																	134348480		1996	4184	6180	SO:0001583	missense	0			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.320A>C	3.37:g.134348480T>G	ENSP00000397598:p.Lys107Thr		B7Z1S4|Q6ZT15	Missense_Mutation	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.K107T	ENST00000423778.2	37	c.320	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843148	0.51057	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	.	.	.	5.58	5.58	0.84498	.	0.134153	0.50627	D	0.000106	T	0.57169	0.2035	L	0.59436	1.845	0.38097	D	0.937144	B;B;B;B	0.24721	0.003;0.11;0.015;0.11	B;B;B;B	0.18561	0.005;0.02;0.011;0.022	T	0.57871	-0.7736	9	0.30854	T	0.27	-11.403	13.2757	0.60186	0.0:0.0:0.0:1.0	.	86;107;107;68	Q8NBH2-3;B4DGA7;Q8NBH2-4;Q8NBH2-2	.;.;.;.	T	86;107;107;107	.	ENSP00000309520:K107T	K	-	2	0	KY	135831170	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.920000	0.48844	2.119000	0.64992	0.455000	0.32223	AAG	KY	-	NULL	ENSG00000174611		0.532	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	-	0	29	0	T	NM_178554		134348480	-1	tier1	-	no_errors	ENST00000423778	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	G	G	134348480	T	G	134348480	3	3	44	1	0	0	0	0	1	0	0	0	8614	1609	56	4	1697	4	KY	3	134348480	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	12168326	134348480	63673950	63	10612											
TRIM59	286827	genome.wustl.edu	37	chr3	160156367	160156368	+	Frame_Shift_Ins	INS	-	-	T																															acagagagccgttaggaaacINSttttttttttctgttctaat																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:160156367_160156368insT	ENST00000309784.4	-	3	789_790	c.604_605insA	c.(604-606)agtfs	p.S202fs	RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.S202fs|TRIM59_ENST00000543469.1_Frame_Shift_Ins_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGTTAGGAAACTTTTTTTTTTC	0.342																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.605dupA	3.37:g.160156377_160156377dupT	ENSP00000311219:p.Ser202fs		A8K5G9|D3DNL9	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S202fs	ENST00000309784.4	37	c.605_604	CCDS3190.1	3																																																																																			RP11-432B6.3	-	NULL	ENSG00000248710		0.342	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	Clone_based_vega_gene	protein_coding	OTTHUMT00000352963.1		0	33	0	-	NM_173084		160156368	-1	tier1		no_errors	ENST00000483754	ensembl	human	known	74_37	frame_shift_ins	20.59	27	7	INS	0.000:0.000	T	T	160156368	-	T	160156367	7	5	44	1	0	1	1	0	0	0	0	0	16580	565	20	0	610	0	TRIM59	3	160156367	Frame_Shift_Ins	INS	-	TCGA-JY-A93D-01A-11D-A387-09	25807887	160156367	37866063	64	10613											
MECOM	2122	genome.wustl.edu	37	chr3	168819859	168819859	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttacctgcaggtataGcgctcctttcccttccgcag	6	12	9	14	2	0	0	0	0	0	0	3	0	3	0	4	1	4	6	4	1	3	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:168819859G>T	ENST00000464456.1	-	9	3369	c.2169C>A	c.(2167-2169)cgC>cgA	p.R723R	MECOM_ENST00000433243.2_Silent_p.R733R|MECOM_ENST00000460814.1_Silent_p.R723R|MECOM_ENST00000264674.3_Silent_p.R797R|MECOM_ENST00000392736.3_Silent_p.R732R|MECOM_ENST00000494292.1_Silent_p.R911R|MECOM_ENST00000472280.1_Silent_p.R733R|MECOM_ENST00000468789.1_Silent_p.R732R	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGCAGGTATAGCGCTCCTTTC	0.488																																																	0													66	63	64					3																	168819859		2203	4300	6503	SO:0001819	synonymous_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2169C>A	3.37:g.168819859G>T			Q13466|Q6FH90	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.R911	ENST00000464456.1	37	c.2733	CCDS54669.1	3																																																																																			MECOM	-	pfam_Znf_BED_prd	ENSG00000085276		0.488	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	-	0	53	0	G	NM_005241, NM_004991		168819859	-1	tier1	-	no_errors	ENST00000494292	ensembl	human	known	74_37	silent	10.00	54	6	SNP	1.000	T	T	168819859	G	T	168819859	2	4	44	1	0	0	0	0	0	0	0	1	9460	958	34	3		3	MECOM	3	168819859	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	8663492	168819859	29202571	65	10614											
EIF4A2	1974	genome.wustl.edu	37	chr3	186504993	186504993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttatttttctcaatacgagGcgcaaggtggactggctgac	9	12	12	8	2	1	1	1	1	1	0	2	3	1	2	0	4	1	3	0	4	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:186504993G>T	ENST00000323963.5	+	8	913	c.849G>T	c.(847-849)agG>agT	p.R283S	SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.R188S|SNORD2_ENST00000459163.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.R284S			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	283	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.R283S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCAATACGAGGCGCAAGGTGG	0.423			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"eukaryotic translation initiation factor 4A, isoform 2"		L	1	Substitution - Missense(1)	lung(1)											110	108	108					3																	186504993		2203	4300	6503	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"DEAD-boxes"	3284	protein-coding gene	gene with protein product		601102	"eukaryotic translation initiation factor 4A, isoform 2"	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.849G>T	3.37:g.186504993G>T	ENSP00000326381:p.Arg283Ser		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R284S	ENST00000323963.5	37	c.852	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983896	0.53827	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.06294	3.32;3.32;3.32	5.12	1.37	0.22104	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.73217	2.22	0.80722	D	1	D;P;B;B	0.61080	0.989;0.686;0.373;0.256	P;P;B;B	0.55508	0.777;0.45;0.19;0.093	T	0.01225	-1.1413	10	0.87932	D	0	-9.765	6.7407	0.23435	0.4542:0.0:0.5458:0.0	.	139;188;284;283	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	S	283;284;188	ENSP00000326381:R283S;ENSP00000398370:R284S;ENSP00000348925:R188S	ENSP00000326381:R283S	R	+	3	2	EIF4A2	187987687	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.919000	0.40015	0.426000	0.26116	0.563000	0.77884	AGG	EIF4A2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000156976		0.423	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1		0	65	0	G	NM_001967		186504993	1			no_errors	ENST00000440191	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	186504993	G	T	186504993	3	4	44	1	0	0	0	0	1	0	0	0	5041	1194	42	3	879	3	EIF4A2	3	186504993	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	17685134	186504993	11517437	66	10615											
CLDN16	10686	genome.wustl.edu	37	chr3	190122688	190122688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagtccgcatctgctttGttgctggagccacgttacta	8	14	9	10	2	1	0	0	0	1	0	2	1	2	1	2	1	4	5	2	1	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:190122688G>A	ENST00000264734.2	+	3	813	c.565G>A	c.(565-567)Gtt>Att	p.V189I	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	189					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CATCTGCTTTGTTGCTGGAGC	0.507																																																	0													138	124	129					3																	190122688		2203	4300	6503	SO:0001583	missense	0			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.565G>A	3.37:g.190122688G>A	ENSP00000264734:p.Val189Ile			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.V189I	ENST00000264734.2	37	c.565	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369336	0.42003	.	.	ENSG00000113946	ENST00000264734	D	0.89875	-2.58	5.93	4.16	0.48862	.	0.159866	0.43110	N	0.000617	D	0.85877	0.5799	M	0.72894	2.215	0.80722	D	1	B	0.25772	0.134	B	0.17433	0.018	T	0.80596	-0.1312	10	0.36615	T	0.2	-3.0013	8.8427	0.35151	0.2234:0.0:0.7766:0.0	.	189	Q9Y5I7	CLD16_HUMAN	I	189	ENSP00000264734:V189I	ENSP00000264734:V189I	V	+	1	0	CLDN16	191605382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.283000	0.43470	0.848000	0.35191	0.655000	0.94253	GTT	CLDN16	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	ENSG00000113946		0.507	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	-	0	60	0	G	NM_006580		190122688	1	tier1	-	no_errors	ENST00000264734	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	190122688	G	A	190122688	3	1	44	1	0	0	0	0	1	0	0	0	3484	1377	48	3	575	3	CLDN16	3	190122688	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	3617695	190122688	7899742	67	10616											
ATP13A5	344905	genome.wustl.edu	37	chr3	193071969	193071969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaacctcaatggcgttggGcccacacactaatcttctgc	9	11	7	14	1	4	0	2	0	2	0	4	0	4	0	2	2	2	1	2	2	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr3:193071969G>T	ENST00000342358.4	-	6	670	c.553C>A	c.(553-555)Ccc>Acc	p.P185T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	185						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATGGCGTTGGGCCCACACACT	0.383																																																	0													122	108	113					3																	193071969		2203	4300	6503	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.553C>A	3.37:g.193071969G>T	ENSP00000341942:p.Pro185Thr		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.P185T	ENST00000342358.4	37	c.553	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631628	0.29068	.	.	ENSG00000187527	ENST00000342358	T	0.81330	-1.48	5.13	4.25	0.50352	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.64402	D	0.000009	D	0.85885	0.5801	M	0.76433	2.335	0.33394	D	0.576526	D	0.64830	0.994	P	0.62014	0.897	D	0.86749	0.1959	10	0.19147	T	0.46	-6.6594	11.671	0.51401	0.0874:0.0:0.9126:0.0	.	185	Q4VNC0	AT135_HUMAN	T	185	ENSP00000341942:P185T	ENSP00000341942:P185T	P	-	1	0	ATP13A5	194554663	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	4.727000	0.61993	1.168000	0.42723	0.655000	0.94253	CCC	ATP13A5	-	pfam_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000187527		0.383	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	-	0	56	0	G	NM_198505		193071969	-1	tier1	-	no_errors	ENST00000342358	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	193071969	G	T	193071969	3	4	44	1	0	0	0	0	1	0	0	0	1128	1203	42	3	3201	3	ATP13A5	3	193071969	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2949281	193071969	4950461	68	10617											
SEC31A	22872	genome.wustl.edu	37	chr4	83788384	83788384	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatacgcccatcaaacGaagcagctgataagacagca	16	5	8	12	2	1	3	1	2	0	1	1	4	1	3	1	0	5	3	1	0	4	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr4:83788384G>T	ENST00000395310.2	-	9	1150	c.968C>A	c.(967-969)tCg>tAg	p.S323*	SEC31A_ENST00000508502.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.S323*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.S323*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.S323*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.S323*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.S318*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.S95*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.S323*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.S323*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	323	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CCCATCAAACGAAGCAGCTGA	0.423																																																	0													128	112	117					4																	83788384		2203	4300	6503	SO:0001587	stop_gained	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.968C>A	4.37:g.83788384G>T	ENSP00000378721:p.Ser323*		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S323*	ENST00000395310.2	37	c.968	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	G	40	7.919782	0.98563	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	.	.	.	5.54	5.54	0.83059	.	0.171625	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8855	19.8364	0.96659	0.0:0.0:1.0:0.0	.	.	.	.	X	323;323;323;318;323;323;323;323;323;323;323;323;323;95;323;323	.	ENSP00000264405:S95X	S	-	2	0	SEC31A	84007408	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.364000	0.73086	2.765000	0.95021	0.573000	0.79308	TCG	SEC31A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000138674		0.423	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1		0	38	0	G	NM_016211		83788384	-1			no_errors	ENST00000432794	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	83788384	G	T	83788384	4	4	44	1	0	0	0	0	0	1	0	0	14043	1059	37	2	2770	2	SEC31A	4	83788384	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		83788384	107365892	69	10618											
UNC5C	8633	genome.wustl.edu	37	chr4	96140155	96140155	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaggtgacctcccagcgagTtgaagctgccaaatgcggta	11	8	12	10	2	0	2	0	2	0	0	1	3	1	2	3	2	4	3	3	2	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr4:96140155T>G	ENST00000453304.1	-	9	1958	c.1610A>C	c.(1609-1611)aAc>aCc	p.N537T	UNC5C_ENST00000506749.1_Missense_Mutation_p.N556T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	537	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCCAGCGAGTTGAAGCTGCC	0.453																																																	0													117	93	101					4																	96140155		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1610A>C	4.37:g.96140155T>G	ENSP00000406022:p.Asn537Thr		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.N537T	ENST00000453304.1	37	c.1610	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	T	12.11	1.839060	0.32513	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.44881	0.91;0.91;0.91	5.44	5.44	0.79542	ZU5 (3);	0.205350	0.50627	D	0.000103	T	0.34832	0.0911	L	0.34521	1.04	0.80722	D	1	B;P;P	0.34462	0.015;0.454;0.454	B;B;B	0.34931	0.029;0.192;0.192	T	0.11542	-1.0583	10	0.32370	T	0.25	.	15.5137	0.75806	0.0:0.0:0.0:1.0	.	537;556;537	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	T	537;496;556;556	ENSP00000406022:N537T;ENSP00000426924:N556T;ENSP00000426153:N556T	ENSP00000328673:N496T	N	-	2	0	UNC5C	96359178	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	2.888000	0.48594	2.063000	0.61619	0.528000	0.53228	AAC	UNC5C	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000182168		0.453	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1		0	70	0	T	NM_003728		96140155	-1			no_errors	ENST00000453304	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	G	G	96140155	T	G	96140155	3	3	44	1	0	0	0	0	1	0	0	0	17042	1725	60	4	1217	4	UNC5C	4	96140155	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	12351771	96140155	95014121	70	10619											
NAA15	80155	genome.wustl.edu	37	chr4	140291507	140291507	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaaggatgatgatgaTgaggagataggaggtccaaa	18	6	15	2	0	0	7	0	4	0	3	1	10	1	9	1	4	0	0	1	4	5	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr4:140291507T>G	ENST00000296543.5	+	15	2219	c.1896T>G	c.(1894-1896)gaT>gaG	p.D632E	NAA15_ENST00000398947.1_Missense_Mutation_p.D632E	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	632	Interaction with HYPK.|Poly-Asp.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						atgatgatgatgaggagatag	0.363																																																	0																																										SO:0001583	missense	0			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1896T>G	4.37:g.140291507T>G	ENSP00000296543:p.Asp632Glu		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D632E	ENST00000296543.5	37	c.1896	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	T	10.14	1.269630	0.23221	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.38560	1.13;1.13	5.77	3.21	0.36854	.	0.432007	0.24922	N	0.034537	T	0.19406	0.0466	N	0.05510	-0.035	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.08330	-1.0727	10	0.06891	T	0.86	-10.1192	10.3717	0.44058	0.0:0.1373:0.0:0.8627	.	632	Q9BXJ9	NAA15_HUMAN	E	632;506;632	ENSP00000296543:D632E;ENSP00000381920:D632E	ENSP00000296543:D632E	D	+	3	2	NAA15	140510957	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.148000	0.42235	0.402000	0.25451	0.528000	0.53228	GAT	NAA15	-	pirsf_NatA_aux_su	ENSG00000164134		0.363	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	-	0	48	0	T	NM_057175		140291507	1	tier1	-	no_errors	ENST00000296543	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	G	G	140291507	T	G	140291507	3	3	44	1	0	0	0	0	1	0	0	0	10156	1461	51	4	1954	4	NAA15	4	140291507	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	44151352	140291507	50862769	71	10620											
DCHS2	54798	genome.wustl.edu	37	chr4	155158150	155158150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggctaagattataggattTgactgtgaattcaggggcat	12	13	12	4	0	1	3	1	2	0	1	1	4	1	4	0	4	0	2	0	4	5	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr4:155158150T>G	ENST00000357232.4	-	25	6288	c.6289A>C	c.(6289-6291)Aaa>Caa	p.K2097Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2097	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTATAGGATTTGACTGTGAAT	0.423																																																	0													151	148	149					4																	155158150		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6289A>C	4.37:g.155158150T>G	ENSP00000349768:p.Lys2097Gln		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K2097Q	ENST00000357232.4	37	c.6289	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	0.044	-1.273547	0.01421	.	.	ENSG00000197410	ENST00000357232	T	0.63417	-0.04	5.82	3.15	0.36227	Cadherin (2);Cadherin-like (1);	0.638607	0.15443	N	0.262062	T	0.40815	0.1132	N	0.17872	0.535	0.09310	N	0.999996	B	0.21452	0.056	B	0.21151	0.033	T	0.20840	-1.0263	10	0.14252	T	0.57	.	6.7168	0.23308	0.0:0.6555:0.129:0.2155	.	2097	Q6V1P9	PCD23_HUMAN	Q	2097	ENSP00000349768:K2097Q	ENSP00000349768:K2097Q	K	-	1	0	DCHS2	155377600	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	1.065000	0.30592	0.792000	0.33850	-0.479000	0.04858	AAA	DCHS2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197410		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	78	0	T	NM_001142552		155158150	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	17.24	48	10	SNP	0.001	G	G	155158150	T	G	155158150	3	3	44	1	0	0	0	0	1	0	0	0	4297	1821	63	4	2465	4	DCHS2	4	155158150	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	14866643	155158150	35996126	72	10621											
FGA	2243	genome.wustl.edu	37	chr4	155507462	155507462	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatacagagctctcagaggtCcagtgcccagcacttccgcg	9	7	11	14	2	1	2	1	0	1	2	4	3	3	2	3	1	4	2	3	1	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr4:155507462C>T	ENST00000302053.3	-	5	1197	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	FGA_ENST00000403106.3_Nonsense_Mutation_p.W373*	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	373					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCTCAGAGGTCCAGTGCCCAG	0.547																																					NSCLC(143;340 1922 20892 22370 48145)												0													64	69	67					4																	155507462		2203	4299	6502	SO:0001587	stop_gained	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1119G>A	4.37:g.155507462C>T	ENSP00000306361:p.Trp373*		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Nonsense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.W373*	ENST00000302053.3	37	c.1119	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484447	0.63962	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	.	.	.	4.52	3.64	0.41730	.	19.814700	0.00871	N	0.002035	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.975	0.41777	0.349:0.651:0.0:0.0	.	.	.	.	X	373	.	ENSP00000306361:W373X	W	-	3	0	FGA	155726912	0.009000	0.17119	0.031000	0.17742	0.010000	0.07245	0.737000	0.26144	2.046000	0.60703	0.650000	0.86243	TGG	FGA	-	NULL	ENSG00000171560		0.547	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	-	0	68	0	C	NM_000508		155507462	-1	tier1	-	no_errors	ENST00000302053	ensembl	human	known	74_37	nonsense	13.11	53	8	SNP	0.013	T	T	155507462	C	T	155507462	4	4	44	1	0	0	0	0	0	1	0	0	5852	856	30	3	1533	3	FGA	4	155507462	Nonsense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	349312	155507462	35646814	73	10622											
ETFDH	2110	genome.wustl.edu	37	chr4	159629656	159629656	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtacctgaaggtggaggaGgacctgcttacaatggaatg	11	9	15	6	0	0	1	0	1	0	0	0	5	0	5	2	6	3	2	2	6	5	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr4:159629656G>T	ENST00000511912.1	+	13	2163	c.1831G>T	c.(1831-1833)Gga>Tga	p.G611*	ETFDH_ENST00000307738.5_Nonsense_Mutation_p.G564*	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	611					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGGTGGAGGAGGACCTGCTTA	0.378																																																	0													121	115	117					4																	159629656		2203	4300	6503	SO:0001587	stop_gained	0			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1831G>T	4.37:g.159629656G>T	ENSP00000426638:p.Gly611*		B4E3R9|J3KND9|Q7Z347	Nonsense_Mutation	SNP	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.G611*	ENST00000511912.1	37	c.1831	CCDS3800.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.164624	0.98107	.	.	ENSG00000171503	ENST00000511912;ENST00000307738	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.9387	20.6087	0.99469	0.0:0.0:1.0:0.0	.	.	.	.	X	611;564	.	ENSP00000303552:G564X	G	+	1	0	ETFDH	159849106	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.866000	0.98385	0.650000	0.86243	GGA	ETFDH	-	NULL	ENSG00000171503		0.378	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2	-	0	75	0	G			159629656	1	tier1	-	no_errors	ENST00000511912	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	159629656	G	T	159629656	4	4	44	1	0	0	0	0	0	1	0	0	5287	1001	35	3	1881	3	ETFDH	4	159629656	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	4122194	159629656	31524620	74	10623											
C4orf39	152756	genome.wustl.edu	37	chr4	165878495	165878495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcattccggctgtcacGccaccgaaattgccaggcca	9	6	11	15	3	1	0	1	0	0	0	2	1	2	0	5	3	2	3	5	3	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr4:165878495G>A	ENST00000513876.2	+	1	396	c.321G>A	c.(319-321)acG>acA	p.T107T	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	107								p.T107T(1)									CGGCTGTCACGCCACCGAAAT	0.547																																																	1	Substitution - coding silent(1)	lung(1)											48	46	47					4																	165878495		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 39"	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.321G>A	4.37:g.165878495G>A				Silent	SNP	NULL	p.T107	ENST00000513876.2	37	c.321	CCDS3807.1	4																																																																																			FAM218A	-	NULL	ENSG00000250486		0.547	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM218A	HGNC	protein_coding	OTTHUMT00000364308.1	-	0	56	0	G	NM_153027		165878495	1	tier1	-	no_errors	ENST00000513876	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.000	A	A	165878495	G	A	165878495	2	1	44	1	0	0	0	0	0	0	0	1	2275	1074	38	1		1	C4orf39	4	165878495	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	6248839	165878495	25275781	75	10624											
IRX4	50805	genome.wustl.edu	37	chr5	1878122	1878122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccggccttgggcagggcGagcagctccctggcggcgcc	3	4	17	17	5	0	0	0	0	0	0	1	1	1	0	5	5	2	3	5	5	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:1878122G>A	ENST00000505790.1	-	6	1977	c.1521C>T	c.(1519-1521)ctC>ctT	p.L507L	IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_Silent_p.L507L|IRX4_ENST00000513692.1_Silent_p.L507L	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	507					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGGGCAGGGCGAGCAGCTCCC	0.756																																																	0													1	1	1					5																	1878122		1065	2418	3483	SO:0001819	synonymous_variant	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.1521C>T	5.37:g.1878122G>A			B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.L507	ENST00000505790.1	37	c.1521	CCDS3867.1	5																																																																																			IRX4	-	NULL	ENSG00000113430		0.756	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	-	0	18	0	G	NM_016358		1878122	-1	tier1	-	no_errors	ENST00000231357	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.021	A	A	1878122	G	A	1878122	2	1	44	1	0	0	0	0	0	0	0	1	7873	1045	37	1		1	IRX4	5	1878122	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		1878122	179037138	76	10625											
SEMA5A	9037	genome.wustl.edu	37	chr5	9337840	9337840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccttgctcctacaacaAgttctttctgtcctgggtca	7	14	6	14	0	4	0	2	0	2	0	6	0	6	0	3	1	3	2	3	1	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:9337840A>G	ENST00000382496.5	-	4	874	c.209T>C	c.(208-210)cTt>cCt	p.L70P		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	70	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCTACAACAAGTTCTTTCTG	0.398																																																	0													84	78	80					5																	9337840		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.209T>C	5.37:g.9337840A>G	ENSP00000371936:p.Leu70Pro		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.L70P	ENST00000382496.5	37	c.209	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538322	0.65085	.	.	ENSG00000112902	ENST00000382496;ENST00000513968	T;T	0.40756	1.02;1.02	5.21	5.21	0.72293	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.69052	0.3068	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75766	-0.3202	10	0.87932	D	0	.	11.7752	0.51981	1.0:0.0:0.0:0.0	.	70	Q13591	SEM5A_HUMAN	P	70	ENSP00000371936:L70P;ENSP00000421961:L70P	ENSP00000371936:L70P	L	-	2	0	SEMA5A	9390840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.461000	0.73522	2.103000	0.63969	0.533000	0.62120	CTT	SEMA5A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000112902		0.398	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	-	0	52	0	A			9337840	-1	tier1	-	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	G	G	9337840	A	G	9337840	3	3	44	1	0	0	0	0	1	0	0	0	14082	72	3	4	3095	4	SEMA5A	5	9337840	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	7459718	9337840	171577420	77	10626											
DNAH5	1767	genome.wustl.edu	37	chr5	13717530	13717530	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaccccagggcaccgaacTtgcgcctctcctggacagtg	7	7	10	17	2	1	0	0	0	1	0	3	2	2	1	6	2	2	1	6	2	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:13717530T>G	ENST00000265104.4	-	73	12703	c.12599A>C	c.(12598-12600)aAg>aCg	p.K4200T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4200T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552									Kartagener syndrome																																								1	Substitution - Missense(1)	pancreas(1)											70	64	66					5																	13717530		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12599A>C	5.37:g.13717530T>G	ENSP00000265104:p.Lys4200Thr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K4200T	ENST00000265104.4	37	c.12599	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546348	0.86022	.	.	ENSG00000039139	ENST00000265104	T	0.12147	2.71	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63395	-0.6647	10	0.87932	D	0	.	15.5182	0.75842	0.0:0.0:0.0:1.0	.	4200	Q8TE73	DYH5_HUMAN	T	4200	ENSP00000265104:K4200T	ENSP00000265104:K4200T	K	-	2	0	DNAH5	13770530	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	8.020000	0.88740	2.067000	0.61834	0.533000	0.62120	AAG	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.552	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	38	0	T	NM_001369		13717530	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	G	G	13717530	T	G	13717530	3	3	44	1	0	0	0	0	1	0	0	0	4618	1609	56	4	1303	4	DNAH5	5	13717530	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	4379690	13717530	167197730	78	10627											
DNAH5	1767	genome.wustl.edu	37	chr5	13717543	13717543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgaacttgcgcctctcctGgacagtggagtgcaggaaag	10	7	13	11	2	1	0	0	0	1	0	2	4	1	3	3	3	3	1	3	3	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:13717543G>T	ENST00000265104.4	-	73	12690	c.12586C>A	c.(12586-12588)Cag>Aag	p.Q4196K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4196	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q4196K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCCTCTCCTGGACAGTGGAG	0.552									Kartagener syndrome																																								1	Substitution - Missense(1)	large_intestine(1)											67	60	62					5																	13717543		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12586C>A	5.37:g.13717543G>T	ENSP00000265104:p.Gln4196Lys		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q4196K	ENST00000265104.4	37	c.12586	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571457	0.86542	.	.	ENSG00000039139	ENST00000265104	T	0.09630	2.96	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	H	0.98769	4.325	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.74893	-0.3509	10	0.72032	D	0.01	.	19.2888	0.94090	0.0:0.0:1.0:0.0	.	4196	Q8TE73	DYH5_HUMAN	K	4196	ENSP00000265104:Q4196K	ENSP00000265104:Q4196K	Q	-	1	0	DNAH5	13770543	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.843000	0.99491	2.557000	0.86248	0.655000	0.94253	CAG	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.552	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	44	0	G	NM_001369		13717543	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	13717543	G	T	13717543	3	4	44	1	0	0	0	0	1	0	0	0	4618	1357	47	3	1316	3	DNAH5	5	13717543	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	13	13717543	167197717	79	10628											
MYO10	4651	genome.wustl.edu	37	chr5	16701589	16701589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgcatgcgctctcaGccagctcgctggaaaattcg	7	10	9	15	4	2	0	1	0	2	0	7	1	2	1	2	1	3	4	2	1	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:16701589G>T	ENST00000513610.1	-	25	3369	c.2915C>A	c.(2914-2916)gCt>gAt	p.A972D	MYO10_ENST00000274203.9_Missense_Mutation_p.A329D|MYO10_ENST00000505695.1_Missense_Mutation_p.A311D|MYO10_ENST00000515803.1_Missense_Mutation_p.A311D|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000427430.2_Missense_Mutation_p.A329D	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	972					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGCGCTCTCAGCCAGCTCGCT	0.587																																																	0													36	39	38					5																	16701589		2120	4238	6358	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2915C>A	5.37:g.16701589G>T	ENSP00000421280:p.Ala972Asp		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.A972D	ENST00000513610.1	37	c.2915	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	4.520	0.096563	0.08681	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;T;T;T;T	0.87412	-2.25;1.91;1.91;1.91;1.91	4.66	2.82	0.32997	.	.	.	.	.	T	0.70902	0.3277	N	0.08118	0	0.09310	N	1	B;B	0.23650	0.089;0.013	B;B	0.18871	0.023;0.01	T	0.53373	-0.8448	9	0.10902	T	0.67	.	9.5774	0.39465	0.0782:0.1429:0.7789:0.0	.	613;972	Q69YP8;Q9HD67	.;MYO10_HUMAN	D	972;311;329;311;329	ENSP00000421280:A972D;ENSP00000425051:A311D;ENSP00000274203:A329D;ENSP00000421170:A311D;ENSP00000391106:A329D	ENSP00000274203:A329D	A	-	2	0	MYO10	16754589	0.828000	0.29307	0.007000	0.13788	0.025000	0.11179	3.341000	0.52151	0.377000	0.24735	-0.251000	0.11542	GCT	MYO10	-	NULL	ENSG00000145555		0.587	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1		0	32	0	G	NM_012334		16701589	-1			no_errors	ENST00000513610	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.011	T	T	16701589	G	T	16701589	3	4	44	1	0	0	0	0	1	0	0	0	10100	971	34	3	3329	3	MYO10	5	16701589	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2984046	16701589	164213671	80	10629											
PDZD2	23037	genome.wustl.edu	37	chr5	32074390	32074390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctatgcagccaacctcAcggactctgcagaggccccc	8	6	9	18	2	2	1	1	0	1	1	3	2	3	2	5	2	4	2	5	2	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:32074390A>G	ENST00000438447.1	+	18	3566	c.3178A>G	c.(3178-3180)Acg>Gcg	p.T1060A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1060A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1060					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCAACCTCACGGACTCTGC	0.567																																																	0													101	114	110					5																	32074390		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3178A>G	5.37:g.32074390A>G	ENSP00000402033:p.Thr1060Ala		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T1060A	ENST00000438447.1	37	c.3178	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	A	9.977	1.227089	0.22542	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.05649	3.41;3.41	5.45	2.2	0.27929	.	0.663319	0.12501	N	0.463395	T	0.04588	0.0125	L	0.36672	1.1	0.09310	N	1	B;B	0.14805	0.011;0.007	B;B	0.12156	0.007;0.004	T	0.45687	-0.9244	10	0.16420	T	0.52	.	3.181	0.06584	0.412:0.405:0.0:0.1829	.	886;1060	B4E3P2;O15018	.;PDZD2_HUMAN	A	1060;862;1060	ENSP00000402033:T1060A;ENSP00000282493:T1060A	ENSP00000282493:T1060A	T	+	1	0	PDZD2	32110147	0.043000	0.20138	0.006000	0.13384	0.001000	0.01503	0.642000	0.24735	0.637000	0.30526	-0.460000	0.05396	ACG	PDZD2	-	NULL	ENSG00000133401		0.567	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	46	0	A			32074390	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.001	G	G	32074390	A	G	32074390	3	3	44	1	0	0	0	0	1	0	0	0	11740	159	6	4	3244	4	PDZD2	5	32074390	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	15372801	32074390	148840870	81	10630											
PDZD2	23037	genome.wustl.edu	37	chr5	32077649	32077649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctctgtcccatctggatGccagccacctcacagagaac	9	8	9	15	0	3	1	1	0	2	1	4	3	4	2	4	1	4	1	4	1	1	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:32077649G>T	ENST00000438447.1	+	19	4007	c.3619G>T	c.(3619-3621)Gcc>Tcc	p.A1207S	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1207S			O15018	PDZD2_HUMAN	PDZ domain containing 2	1207					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCATCTGGATGCCAGCCACCT	0.498																																																	0													108	104	105					5																	32077649		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3619G>T	5.37:g.32077649G>T	ENSP00000402033:p.Ala1207Ser		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A1207S	ENST00000438447.1	37	c.3619	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926402	0.34002	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06608	3.28;3.28	4.98	-9.97	0.00440	.	0.972277	0.08394	N	0.952434	T	0.04952	0.0133	L	0.44542	1.39	0.09310	N	1	B;B	0.20368	0.044;0.01	B;B	0.18561	0.022;0.021	T	0.37056	-0.9722	10	0.59425	D	0.04	.	8.2572	0.31763	0.3018:0.2876:0.4106:0.0	.	1033;1207	B4E3P2;O15018	.;PDZD2_HUMAN	S	1207;1012;1207	ENSP00000402033:A1207S;ENSP00000282493:A1207S	ENSP00000282493:A1207S	A	+	1	0	PDZD2	32113406	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.446000	0.06837	-2.197000	0.00750	-1.264000	0.01445	GCC	PDZD2	-	NULL	ENSG00000133401		0.498	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1		0	33	0	G			32077649	1			no_errors	ENST00000282493	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.000	T	T	32077649	G	T	32077649	3	4	44	1	0	0	0	0	1	0	0	0	11740	1319	46	3	3689	3	PDZD2	5	32077649	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	3259	32077649	148837611	82	10631											
UGT3A1	133688	genome.wustl.edu	37	chr5	35957435	35957435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcttcttgaggacttcCtgggactgatgggtgttcaa	7	14	12	8	0	3	2	1	2	2	0	4	4	4	4	1	3	1	2	1	3	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:35957435C>T	ENST00000274278.3	-	5	1287	c.930G>A	c.(928-930)caG>caA	p.Q310Q	UGT3A1_ENST00000507113.1_Silent_p.Q276Q|UGT3A1_ENST00000503189.1_Silent_p.Q310Q|UGT3A1_ENST00000513233.1_5'UTR	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	310						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGACTTCCTGGGACTGAT	0.498																																																	0													119	100	106					5																	35957435		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"UDP glucuronosyltransferases"	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.930G>A	5.37:g.35957435C>T			G5E961|Q8IYS9|Q8NAW4|Q96DM6	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.Q310	ENST00000274278.3	37	c.930	CCDS3913.1	5																																																																																			UGT3A1	-	pfam_UDP_glucos_trans	ENSG00000145626		0.498	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A1	HGNC	protein_coding	OTTHUMT00000253770.2	-	0	88	0	C	NM_152404		35957435	-1	tier1	-	no_errors	ENST00000274278	ensembl	human	known	74_37	silent	27.37	69	26	SNP	0.000	T	T	35957435	C	T	35957435	2	4	44	1	0	0	0	0	0	0	0	1	17012	680	24	3		3	UGT3A1	5	35957435	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	3879786	35957435	144957825	83	10632											
C5orf35	133383	genome.wustl.edu	37	chr5	56212655	56212655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagcccacttcgatgtGttgttcttgtcgcacttagg	5	17	9	10	2	2	0	1	0	1	0	4	1	2	0	1	1	1	3	1	1	1	7			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:56212655G>T	ENST00000285947.2	+	6	1212	c.826G>T	c.(826-828)Gtt>Ttt	p.V276F	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	276	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										ACTTCGATGTGTTGTTCTTGT	0.333																																																	0													167	156	160					5																	56212655		2203	4300	6503	SO:0001583	missense	0			BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 35"	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.826G>T	5.37:g.56212655G>T	ENSP00000285947:p.Val276Phe		F5H713	Missense_Mutation	SNP	NULL	p.V276F	ENST00000285947.2	37	c.826	CCDS3972.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783460	0.90282	.	.	ENSG00000155542	ENST00000285947	T	0.46063	0.88	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71094	-0.4692	10	0.87932	D	0	-13.6371	18.5102	0.90913	0.0:0.0:1.0:0.0	.	276	Q8NE22	CE035_HUMAN	F	276	ENSP00000285947:V276F	ENSP00000285947:V276F	V	+	1	0	C5orf35	56248412	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	4.913000	0.63341	2.380000	0.81148	0.585000	0.79938	GTT	SETD9	-	NULL	ENSG00000155542		0.333	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD9	HGNC	protein_coding	OTTHUMT00000132304.2	-	0	110	0	G	NM_153706		56212655	1	tier1	-	no_errors	ENST00000285947	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	56212655	G	T	56212655	3	4	44	1	0	0	0	0	1	0	0	0	2301	1377	48	3	848	3	C5orf35	5	56212655	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	20255220	56212655	124702605	84	10633											
SLC30A5	64924	genome.wustl.edu	37	chr5	68417624	68417624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaggaagctgtcactcatCtgatcacagccattcacacc	12	9	6	14	0	6	1	5	1	1	0	6	2	6	2	2	1	2	1	2	1	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:68417624C>T	ENST00000396591.3	+	13	2283	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	558	His-rich loop.				cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S558C(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGTCACTCATCTGATCACAGC	0.517																																																	1	Substitution - Missense(1)	breast(1)											88	73	78					5																	68417624		2203	4300	6503	SO:0001583	missense	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1673C>T	5.37:g.68417624C>T	ENSP00000379836:p.Ser558Phe		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.S558F	ENST00000396591.3	37	c.1673	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435478	0.43224	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.65364	-0.15	4.46	3.51	0.40186	.	0.269088	0.41500	D	0.000877	T	0.50684	0.1630	L	0.29908	0.895	0.80722	D	1	P;B;P	0.51147	0.942;0.372;0.927	P;B;P	0.46026	0.501;0.206;0.477	T	0.47837	-0.9086	10	0.36615	T	0.2	.	9.7641	0.40550	0.4031:0.5969:0.0:0.0	.	387;387;558	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	F	558;153	ENSP00000379836:S558F	ENSP00000379836:S558F	S	+	2	0	SLC30A5	68453380	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	5.118000	0.64673	2.308000	0.77769	0.591000	0.81541	TCT	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000145740		0.517	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2		0	31	0	C			68417624	1			no_errors	ENST00000396591	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	68417624	C	T	68417624	3	4	44	1	0	0	0	0	1	0	0	0	14603	913	32	3	1811	3	SLC30A5	5	68417624	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	12204969	68417624	112497636	85	10634											
GCNT4	51301	genome.wustl.edu	37	chr5	74325823	74325823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaggatgaaaactttctGctgtagggtatgtttaaaat	15	13	9	4	0	1	1	0	1	1	0	1	2	1	2	0	2	3	4	0	2	7	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:74325823G>T	ENST00000322348.4	-	1	901	c.40C>A	c.(40-42)Cag>Aag	p.Q14K		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	14					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AAAACTTTCTGCTGTAGGGTA	0.333																																																	0													106	124	118					5																	74325823		2182	4235	6417	SO:0001583	missense	0			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.40C>A	5.37:g.74325823G>T	ENSP00000317027:p.Gln14Lys			Missense_Mutation	SNP	pfam_Glyco_trans_14	p.Q14K	ENST00000322348.4	37	c.40	CCDS4026.1	5	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788598	0.31685	.	.	ENSG00000176928	ENST00000322348	T	0.07800	3.16	5.95	5.95	0.96441	.	0.347351	0.27080	N	0.021038	T	0.09905	0.0243	L	0.50333	1.59	0.29174	N	0.876968	B	0.23442	0.085	B	0.19666	0.026	T	0.06972	-1.0797	10	0.29301	T	0.29	-0.0155	13.0999	0.59214	0.0:0.0:0.8005:0.1995	.	14	Q9P109	GCNT4_HUMAN	K	14	ENSP00000317027:Q14K	ENSP00000317027:Q14K	Q	-	1	0	GCNT4	74361579	0.977000	0.34250	0.997000	0.53966	0.984000	0.73092	1.667000	0.37471	2.824000	0.97209	0.655000	0.94253	CAG	GCNT4	-	NULL	ENSG00000176928		0.333	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1		0	38	0	G	NM_016591		74325823	-1			no_errors	ENST00000322348	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.997	T	T	74325823	G	T	74325823	3	4	44	1	0	0	0	0	1	0	0	0	6328	1328	46	3	1325	3	GCNT4	5	74325823	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	5908199	74325823	106589437	86	10635											
GPR98	84059	genome.wustl.edu	37	chr5	89971204	89971204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagggacttctgggaaGggtgactgcggaatttagaa	11	9	15	6	1	1	2	0	1	1	1	1	5	1	5	0	4	2	1	0	4	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:89971204G>T	ENST00000405460.2	+	24	5351	c.5255G>T	c.(5254-5256)aGg>aTg	p.R1752M	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1752	Calx-beta 12. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTCTGGGAAGGGTGACTGCG	0.468																																																	0													89	95	93					5																	89971204		2016	4174	6190	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5255G>T	5.37:g.89971204G>T	ENSP00000384582:p.Arg1752Met		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R1752M	ENST00000405460.2	37	c.5255	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621472	0.46736	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30448	1.53	5.16	3.3	0.37823	Na-Ca exchanger/integrin-beta4 (2);	0.187495	0.53938	D	0.000045	T	0.44138	0.1279	M	0.83953	2.67	0.23607	N	0.997302	P	0.37636	0.603	P	0.48738	0.588	T	0.38714	-0.9648	10	0.56958	D	0.05	.	5.4983	0.16815	0.0772:0.2754:0.5201:0.1274	.	1752	Q8WXG9	GPR98_HUMAN	M	1752	ENSP00000384582:R1752M	ENSP00000296619:R1752M	R	+	2	0	GPR98	90006960	0.999000	0.42202	0.496000	0.27539	0.600000	0.36913	1.445000	0.35079	1.248000	0.43934	0.591000	0.81541	AGG	GPR98	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000164199		0.468	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	75	0	G	NM_032119		89971204	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.258	T	T	89971204	G	T	89971204	3	4	44	1	0	0	0	0	1	0	0	0	6748	1000	35	3	5349	3	GPR98	5	89971204	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	15645381	89971204	90944056	87	10636											
CHD1	1105	genome.wustl.edu	37	chr5	98223808	98223808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgaaaggggaattgaCgatatttcaaatattctgca	14	14	8	5	1	2	2	1	2	1	0	2	4	2	3	0	2	2	1	0	2	6	7			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:98223808C>T	ENST00000284049.3	-	16	2629	c.2480G>A	c.(2479-2481)cGt>cAt	p.R827H	RNU6-402P_ENST00000410678.1_RNA	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	827	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGGGAATTGACGATATTTCAA	0.289																																																	0													68	69	69					5																	98223808		2202	4299	6501	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2480G>A	5.37:g.98223808C>T	ENSP00000284049:p.Arg827His		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R827H	ENST00000284049.3	37	c.2480	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627436	0.87560	.	.	ENSG00000153922	ENST00000284049	T	0.76578	-1.03	5.11	5.11	0.69529	Helicase, C-terminal (3);	0.000000	0.34460	U	0.003953	D	0.88213	0.6376	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89600	0.3834	10	0.87932	D	0	.	18.548	0.91054	0.0:1.0:0.0:0.0	.	827	O14646	CHD1_HUMAN	H	827	ENSP00000284049:R827H	ENSP00000284049:R827H	R	-	2	0	CHD1	98251708	0.998000	0.40836	1.000000	0.80357	0.851000	0.48451	3.763000	0.55257	2.381000	0.81170	0.467000	0.42956	CGT	CHD1	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000153922		0.289	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1		0	68	0	C	NM_001270		98223808	-1			no_errors	ENST00000284049	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	98223808	C	T	98223808	3	4	44	1	0	0	0	0	1	0	0	0	3330	536	19	1	2732	1	CHD1	5	98223808	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	8252604	98223808	82691452	88	10637											
EPB41L4A	64097	genome.wustl.edu	37	chr5	111504484	111504484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcatccgaagaacgggtCaccggaagtggtggtacaag	12	6	15	8	3	1	2	1	1	0	1	2	4	2	3	2	4	3	2	2	4	5	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:111504484C>T	ENST00000261486.5	-	22	2160	c.1884G>A	c.(1882-1884)gtG>gtA	p.V628V	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	628						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AAGAACGGGTCACCGGAAGTG	0.393																																																	0													95	94	94					5																	111504484		1882	4112	5994	SO:0001819	synonymous_variant	0			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1884G>A	5.37:g.111504484C>T			A4FUI6	Silent	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V628	ENST00000261486.5	37	c.1884	CCDS43350.1	5																																																																																			EPB41L4A	-	NULL	ENSG00000129595		0.393	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1	-	0	66	0	C			111504484	-1	tier1	-	no_errors	ENST00000261486	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	111504484	C	T	111504484	2	4	44	1	0	0	0	0	0	0	0	1	5171	813	29	3		3	EPB41L4A	5	111504484	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	13280676	111504484	69410776	89	10638											
FBN2	2201	genome.wustl.edu	37	chr5	127610319	127610319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggtaaacccccccaGggtgttgacacagaggaact	12	8	10	11	0	0	2	0	1	0	1	0	3	0	3	3	3	3	2	3	3	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:127610319G>T	ENST00000508053.1	-	66	8625	c.7651C>A	c.(7651-7653)Ctg>Atg	p.L2551M	FBN2_ENST00000262464.4_Missense_Mutation_p.L2551M			P35556	FBN2_HUMAN	fibrillin 2	2551	EGF-like 43; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AACCCCCCCAGGGTGTTGACA	0.418																																																	0													97	94	95					5																	127610319		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7651C>A	5.37:g.127610319G>T	ENSP00000424571:p.Leu2551Met		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L2551M	ENST00000508053.1	37	c.7651	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612508	0.66672	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92249	-3.0;-3.0	4.92	4.06	0.47325	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.46442	D	0.000290	D	0.89815	0.6824	L	0.28400	0.85	0.38751	D	0.954105	P	0.45634	0.863	P	0.52514	0.701	D	0.89541	0.3792	10	0.48119	T	0.1	.	8.9475	0.35767	0.075:0.0:0.7785:0.1464	.	2551	P35556	FBN2_HUMAN	M	2551	ENSP00000262464:L2551M;ENSP00000424571:L2551M	ENSP00000262464:L2551M	L	-	1	2	FBN2	127638218	0.994000	0.37717	1.000000	0.80357	0.887000	0.51463	2.237000	0.43061	1.433000	0.47394	-0.203000	0.12734	CTG	FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.418	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	71	0	G	NM_001999		127610319	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	127610319	G	T	127610319	3	4	44	1	0	0	0	0	1	0	0	0	5725	991	35	3	1111	3	FBN2	5	127610319	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	16105835	127610319	53304941	90	10639											
PCDHB7	56129	genome.wustl.edu	37	chr5	140552670	140552670	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgcttactggtgatctacTtctaaatgagaaattggacc	11	14	8	8	1	2	2	0	2	2	1	3	4	2	3	1	2	2	1	1	2	5	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:140552670T>G	ENST00000231137.3	+	1	428	c.254T>G	c.(253-255)cTt>cGt	p.L85R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L85P(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGATCTACTTCTAAATGAG	0.468																																																	1	Substitution - Missense(1)	endometrium(1)											84	88	87					5																	140552670		2203	4300	6503	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.254T>G	5.37:g.140552670T>G	ENSP00000231137:p.Leu85Arg		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L85R	ENST00000231137.3	37	c.254	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	T	9.521	1.108348	0.20714	.	.	ENSG00000113212	ENST00000231137	T	0.33216	1.42	4.61	2.17	0.27698	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.48822	0.1521	M	0.89715	3.055	0.09310	N	1	P	0.36647	0.563	P	0.48454	0.578	T	0.49790	-0.8902	9	0.87932	D	0	.	4.3211	0.11018	0.1456:0.1641:0.0:0.6903	.	85	Q9Y5E2	PCDB7_HUMAN	R	85	ENSP00000231137:L85R	ENSP00000231137:L85R	L	+	2	0	PCDHB7	140532854	0.000000	0.05858	0.108000	0.21378	0.404000	0.30871	0.259000	0.18405	0.227000	0.20999	0.533000	0.62120	CTT	PCDHB7	-	pfam_Cadherin_N,superfamily_Cadherin-like,prints_Cadherin	ENSG00000113212		0.468	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0	51	0	T	NM_018940		140552670	1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.004	G	G	140552670	T	G	140552670	3	3	44	1	0	0	0	0	1	0	0	0	11586	1609	56	4	256	4	PCDHB7	5	140552670	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	12942351	140552670	40362590	91	10640											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559406	140559406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtggacggcgactcGggccagaacgcctggctgtc	5	6	18	12	5	0	1	0	0	0	1	2	3	0	2	2	6	1	1	2	6	1	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:140559406G>A	ENST00000239444.2	+	1	2036	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	597	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCGACTCGGGCCAGAACG	0.721																																																	0													6	11	10					5																	140559406		1673	3567	5240	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1791G>A	5.37:g.140559406G>A			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S597	ENST00000239444.2	37	c.1791	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.721	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2		0	191	0	G	NM_019120		140559406	1			no_errors	ENST00000239444	ensembl	human	known	74_37	silent	7.41	124	10	SNP	0.956	A	A	140559406	G	A	140559406	2	1	44	1	0	0	0	0	0	0	0	1	11587	1103	39	1		1	PCDHB8	5	140559406	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	6736	140559406	40355854	92	10641											
PCDHGC3	5098	genome.wustl.edu	37	chr5	140857013	140857013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagcccttacaatagtgCgtgttcaagtgtccgacatc	9	12	8	12	2	2	0	2	0	1	0	5	1	3	0	2	0	3	1	2	0	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:140857013C>T	ENST00000308177.3	+	1	1434	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R444C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAATAGTGCGTGTTCAAGT	0.522																																																	2	Substitution - Missense(2)	large_intestine(2)											124	124	124					5																	140857013		2203	4300	6503	SO:0001583	missense	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1330C>T	5.37:g.140857013C>T	ENSP00000312070:p.Arg444Cys		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R444C	ENST00000308177.3	37	c.1330	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	C	9.017	0.984037	0.18889	.	.	ENSG00000240184	ENST00000308177	T	0.54279	0.58	5.19	0.914	0.19360	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.48095	0.1481	M	0.62209	1.925	0.09310	N	1	P;D	0.57257	0.941;0.979	B;B	0.43360	0.417;0.409	T	0.37384	-0.9708	9	0.38643	T	0.18	.	8.9568	0.35823	0.4851:0.4446:0.0:0.0703	.	444;444	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	C	444	ENSP00000312070:R444C	ENSP00000312070:R444C	R	+	1	0	PCDHGC3	140837197	0.000000	0.05858	0.134000	0.22075	0.431000	0.31685	0.205000	0.17356	0.362000	0.24319	0.655000	0.94253	CGT	PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000240184		0.522	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2		0	74	0	C	NM_002588		140857013	1			no_errors	ENST00000308177	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.007	T	T	140857013	C	T	140857013	3	4	44	1	0	0	0	0	1	0	0	0	11608	768	27	1	1332	1	PCDHGC3	5	140857013	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	297607	140857013	40058247	93	10642											
MRPL22	29093	genome.wustl.edu	37	chr5	154336728	154336728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaccaggctttggctCagttggaattcaatgacaaa	12	12	9	8	0	2	2	2	2	0	0	2	3	2	3	1	3	0	3	1	3	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:154336728C>A	ENST00000523037.1	+	5	336	c.295C>A	c.(295-297)Cag>Aag	p.Q99K	MRPL22_ENST00000265229.8_Missense_Mutation_p.Q19K|MRPL22_ENST00000522038.1_Missense_Mutation_p.Q105K|MRPL22_ENST00000439747.3_Missense_Mutation_p.Q125K	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	99					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTTTGGCTCAGTTGGAATT	0.378																																																	0													112	124	120					5																	154336728		2203	4300	6503	SO:0001583	missense	0			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"Mitochondrial ribosomal proteins / large subunits"	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.295C>A	5.37:g.154336728C>A	ENSP00000431040:p.Gln99Lys		A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.Q99K	ENST00000523037.1	37	c.295	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749399	0.89753	.	.	ENSG00000082515	ENST00000523037;ENST00000265229;ENST00000439747;ENST00000522038	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.54	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.69637	0.3133	M	0.88310	2.945	0.80722	D	1	D	0.64830	0.994	D	0.71184	0.972	T	0.77294	-0.2641	10	0.72032	D	0.01	-4.7257	16.1057	0.81220	0.0:0.8659:0.1341:0.0	.	99	Q9NWU5	RM22_HUMAN	K	99;19;125;105	ENSP00000431040:Q99K;ENSP00000265229:Q19K;ENSP00000411177:Q125K;ENSP00000429039:Q105K	ENSP00000265229:Q19K	Q	+	1	0	MRPL22	154316921	1.000000	0.71417	0.954000	0.39281	0.988000	0.76386	5.561000	0.67339	1.272000	0.44329	0.591000	0.81541	CAG	MRPL22	-	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	ENSG00000082515		0.378	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	-	0	88	0	C			154336728	1	tier1	-	no_errors	ENST00000523037	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	154336728	C	A	154336728	3	1	44	1	0	0	0	0	1	0	0	0	9826	827	29	3	313	3	MRPL22	5	154336728	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	13479715	154336728	26578532	94	10643											
SFXN1	94081	genome.wustl.edu	37	chr5	174937167	174937167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtccttcaatgccgtcGtcaattacaccaacagaagt	13	9	6	13	2	2	1	2	0	0	1	4	1	3	1	4	0	3	0	4	0	5	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:174937167G>A	ENST00000321442.5	+	4	645	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	SFXN1_ENST00000502393.1_Missense_Mutation_p.V131I	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	131					erythrocyte differentiation (GO:0030218)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAATGCCGTCGTCAATTACAC	0.498																																																	0													159	119	133					5																	174937167		2203	4300	6503	SO:0001583	missense	0			AF327346	CCDS4394.1	5q35.3	2008-02-05			ENSG00000164466	ENSG00000164466		"Sideroflexins"	16085	protein-coding gene	gene with protein product		615569					Standard	NM_022754		Approved	FLJ12876	uc003mda.2	Q9H9B4	OTTHUMG00000130555	ENST00000321442.5:c.391G>A	5.37:g.174937167G>A	ENSP00000316905:p.Val131Ile		B3KPW3|D3DQN2|Q9HA53	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.V131I	ENST00000321442.5	37	c.391	CCDS4394.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.074441	0.94000	.	.	ENSG00000164466	ENST00000507017;ENST00000321442;ENST00000506963	T;T;T	0.39592	1.07;1.07;1.07	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.63721	0.2535	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.67900	0.954;0.787	T	0.62215	-0.6901	10	0.41790	T	0.15	-41.1476	18.3752	0.90433	0.0:0.0:1.0:0.0	.	131;131	D6RFI0;Q9H9B4	.;SFXN1_HUMAN	I	131	ENSP00000420961:V131I;ENSP00000316905:V131I;ENSP00000421467:V131I	ENSP00000316905:V131I	V	+	1	0	SFXN1	174869773	1.000000	0.71417	0.823000	0.32752	0.481000	0.33189	9.731000	0.98807	2.572000	0.86782	0.655000	0.94253	GTC	SFXN1	-	pfam_Mtc,tigrfam_Mtc	ENSG00000164466		0.498	SFXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN1	HGNC	protein_coding	OTTHUMT00000252980.2	-	0	106	0	G	NM_022754		174937167	1	tier1	-	no_errors	ENST00000321442	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	174937167	G	A	174937167	3	1	44	1	0	0	0	0	1	0	0	0	14239	1145	40	1	401	1	SFXN1	5	174937167	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	20600439	174937167	5978093	95	10644											
NSD1	64324	genome.wustl.edu	37	chr5	176638912	176638912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaggcgcactaaacctcGtaagcgcatgaacagattta	15	7	8	11	3	0	2	0	1	0	1	1	2	0	2	2	1	3	3	2	1	6	4	rs111638717		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:176638912G>T	ENST00000439151.2	+	5	3557	c.3512G>T	c.(3511-3513)cGt>cTt	p.R1171L	NSD1_ENST00000361032.4_Missense_Mutation_p.R1068L|NSD1_ENST00000354179.4_Missense_Mutation_p.R902L|NSD1_ENST00000347982.4_Missense_Mutation_p.R902L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1171					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACTAAACCTCGTAAGCGCATG	0.458			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													76	71	73					5																	176638912		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3512G>T	5.37:g.176638912G>T	ENSP00000395929:p.Arg1171Leu		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R1171L	ENST00000439151.2	37	c.3512	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241033	0.39598	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92858	-3.02;-3.02;-3.02;-3.12	4.49	4.49	0.54785	.	0.366954	0.22886	N	0.054456	D	0.83271	0.5218	N	0.19112	0.55	0.24740	N	0.99305	B;B;B	0.27679	0.185;0.185;0.049	B;B;B	0.26094	0.041;0.066;0.018	T	0.70212	-0.4934	9	.	.	.	.	8.649	0.34022	0.1024:0.0:0.8976:0.0	.	902;1068;1171	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	L	902;1171;902;1068	ENSP00000346111:R902L;ENSP00000395929:R1171L;ENSP00000343209:R902L;ENSP00000354310:R1068L	.	R	+	2	0	NSD1	176571518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.256000	0.51492	2.497000	0.84241	0.655000	0.94253	CGT	NSD1	-	NULL	ENSG00000165671		0.458	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0	44	0	G	NM_172349		176638912	1			no_errors	ENST00000439151	ensembl	human	known	74_37	missense	5.71	32	2	SNP	1.000	T	T	176638912	G	T	176638912	3	4	44	1	0	0	0	0	1	0	0	0	10708	1145	40	2	3526	2	NSD1	5	176638912	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1701745	176638912	4276348	96	10645											
NSD1	64324	genome.wustl.edu	37	chr5	176719030	176719030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagcgcaggacccagggtGaaatcacaaaggagcgagaa	17	2	14	8	2	1	2	1	1	0	1	1	6	1	4	1	3	2	1	1	3	4	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:176719030G>A	ENST00000439151.2	+	22	6379	c.6334G>A	c.(6334-6336)Gaa>Aaa	p.E2112K	NSD1_ENST00000347982.4_Missense_Mutation_p.E1843K|NSD1_ENST00000361032.4_Missense_Mutation_p.E2009K|NSD1_ENST00000354179.4_Missense_Mutation_p.E1843K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2112					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GACCCAGGGTGAAATCACAAA	0.478			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													84	69	74					5																	176719030		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6334G>A	5.37:g.176719030G>A	ENSP00000395929:p.Glu2112Lys		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E2112K	ENST00000439151.2	37	c.6334	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.843629	0.97016	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.44	5.44	0.79542	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000009	D	0.88890	0.6560	L	0.45470	1.425	0.58432	D	0.999996	D;B	0.58970	0.984;0.398	P;B	0.58454	0.839;0.244	D	0.88623	0.3164	10	0.49607	T	0.09	.	19.3518	0.94392	0.0:0.0:1.0:0.0	.	1843;2112	Q96L73-2;Q96L73	.;NSD1_HUMAN	K	1843;2112;1843;2009	ENSP00000346111:E1843K;ENSP00000395929:E2112K;ENSP00000343209:E1843K;ENSP00000354310:E2009K	ENSP00000343209:E1843K	E	+	1	0	NSD1	176651636	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.935000	0.87658	2.571000	0.86741	0.650000	0.86243	GAA	NSD1	-	superfamily_Znf_FYVE_PHD	ENSG00000165671		0.478	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0	54	0	G	NM_172349		176719030	1			no_errors	ENST00000439151	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A	A	176719030	G	A	176719030	3	1	44	1	0	0	0	0	1	0	0	0	10708	1291	45	3	6416	3	NSD1	5	176719030	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	80118	176719030	4196230	97	10646											
BTNL3	10917	genome.wustl.edu	37	chr5	180424394	180424394	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtatgatgtggagatCtccattatagtccaggaaaa	13	11	10	7	0	1	2	0	1	1	1	3	4	2	3	3	2	1	1	3	2	5	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr5:180424394C>A	ENST00000342868.6	+	3	763	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	193	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ATGTGGAGATCTCCATTATAG	0.493																																																	0													109	97	101					5																	180424394		2123	3927	6050	SO:0001819	synonymous_variant	0			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1143	protein-coding gene	gene with protein product	"butyrophilin-like receptor"	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.579C>A	5.37:g.180424394C>A			Q496L7|Q9Y2C7	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.I193	ENST00000342868.6	37	c.579	CCDS47358.1	5																																																																																			BTNL3	-	pfscan_Ig-like_dom	ENSG00000168903		0.493	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTNL3	HGNC	protein_coding	OTTHUMT00000367176.2	-	0	96	0	C	NM_197975		180424394	1	tier1	-	no_errors	ENST00000342868	ensembl	human	known	74_37	silent	10.39	68	8	SNP	0.000	A	A	180424394	C	A	180424394	2	1	44	1	0	0	0	0	0	0	0	1	1570	903	32	3		3	BTNL3	5	180424394	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	3705364	180424394	490866	98	10647											
NUP153	9972	genome.wustl.edu	37	chr6	17633076	17633076	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaggtactgaacttcCtaaaaaaaaaaaaaaaaacg	23	6	6	6	1	0	2	0	2	0	0	1	2	1	2	1	1	4	2	1	1	12	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:17633076C>A	ENST00000262077.2	-	17	2464		c.e17-1		NUP153_ENST00000537253.1_Splice_Site	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACTGAACTTCCTAAAAAAAAA	0.408																																																	0													25	26	25					6																	17633076		2202	4299	6501	SO:0001630	splice_region_variant	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2465-1G>T	6.37:g.17633076C>A			B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Splice_Site	SNP	-	e18-1	ENST00000262077.2	37	c.2558-1	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232825	0.39498	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3358	0.90287	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP153	17741055	1.000000	0.71417	0.901000	0.35422	0.455000	0.32408	4.237000	0.58681	2.419000	0.82065	0.655000	0.94253	.	NUP153	-	-	ENSG00000124789		0.408	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	33	0	C		Intron	17633076	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	splice_site	22.86	27	8	SNP	0.996	A	A	17633076	C	A	17633076	5	1	44	1	0	0	0	0	0	0	1	0	10794	695	24	3	1987	3	NUP153	6	17633076	Splice_Site	SNP	C	TCGA-JY-A93D-01A-11D-A387-09		17633076	153481991	99	10648											
BTN2A1	11120	genome.wustl.edu	37	chr6	26458908	26458908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccggccagcctcccTcctcctcctcctcctcagcc	2	10	4	25	1	2	0	1	0	1	0	9	0	8	0	10	1	2	0	10	1	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:26458908T>C	ENST00000312541.5	+	2	292	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L15P|BTN2A1_ENST00000429381.1_Missense_Mutation_p.L15P	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	15					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCAGCCTCCCTCCTCCTCCTC	0.582																																																	0													187	142	157					6																	26458908		2203	4300	6503	SO:0001583	missense	0			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.44T>C	6.37:g.26458908T>C	ENSP00000312158:p.Leu15Pro		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.L15P	ENST00000312541.5	37	c.44	CCDS4613.1	6	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360847	0.41801	.	.	ENSG00000112763	ENST00000312541;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T	0.81078	-0.78;-1.45;-1.45	3.03	1.83	0.25207	Immunoglobulin-like (1);	0.656368	0.12607	N	0.454165	D	0.83778	0.5328	M	0.85462	2.755	0.09310	N	0.999994	D;D	0.76494	0.981;0.999	P;D	0.85130	0.725;0.997	T	0.71882	-0.4458	10	0.87932	D	0	.	6.2417	0.20795	0.0:0.0:0.2598:0.7402	.	15;15	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	P	15	ENSP00000312158:L15P;ENSP00000416945:L15P;ENSP00000419043:L15P	ENSP00000265424:L15P	L	+	2	0	BTN2A1	26566887	0.015000	0.18098	0.002000	0.10522	0.013000	0.08279	1.449000	0.35123	0.539000	0.28788	0.397000	0.26171	CTC	BTN2A1	-	pfscan_Ig-like_dom	ENSG00000112763		0.582	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2		0	83	0	T	NM_007049		26458908	1			no_errors	ENST00000312541	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.003	C	C	26458908	T	C	26458908	3	2	44	1	0	0	0	0	1	0	0	0	1564	1551	54	4	46	4	BTN2A1	6	26458908	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	8825832	26458908	144656159	100	10649											
PGBD1	84547	genome.wustl.edu	37	chr6	28264657	28264657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagtggtcacatctgaGtctgactcggaggaacctct	11	9	12	9	1	4	3	1	2	3	1	5	6	4	5	1	3	1	0	1	3	2	0	rs150118191		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:28264657G>T	ENST00000405948.2	+	5	1127	c.707G>T	c.(706-708)aGt>aTt	p.S236I	PGBD1_ENST00000259883.3_Missense_Mutation_p.S236I	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	236						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TCACATCTGAGTCTGACTCGG	0.502																																																	0													116	108	111					6																	28264657		2203	4300	6503	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.707G>T	6.37:g.28264657G>T	ENSP00000385213:p.Ser236Ile		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.S236I	ENST00000405948.2	37	c.707	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553307	0.27739	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01359	4.98;4.98	4.13	2.3	0.28687	.	1.173980	0.06520	N	0.739490	T	0.00412	0.0013	N	0.24115	0.695	0.09310	N	1	P	0.37015	0.578	B	0.27796	0.083	T	0.46843	-0.9162	10	0.72032	D	0.01	-7.4744	5.6591	0.17658	0.109:0.2002:0.6909:0.0	.	236	Q96JS3	PGBD1_HUMAN	I	236	ENSP00000385213:S236I;ENSP00000259883:S236I	ENSP00000259883:S236I	S	+	2	0	PGBD1	28372636	0.001000	0.12720	0.003000	0.11579	0.807000	0.45602	0.432000	0.21461	0.655000	0.30866	0.655000	0.94253	AGT	PGBD1	-	superfamily_Krueppel-associated_box	ENSG00000137338		0.502	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2		0	53	0	G			28264657	1			no_errors	ENST00000259883	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.004	T	T	28264657	G	T	28264657	3	4	44	1	0	0	0	0	1	0	0	0	11819	1029	36	3	721	3	PGBD1	6	28264657	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1805749	28264657	142850410	101	10650											
IER3	8870	genome.wustl.edu	37	chr6	30712267	30712267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcctgcaggatggtcatgGtcgggtggcagctgcgagag	6	7	20	8	2	1	1	1	0	0	1	2	3	1	2	1	6	3	3	1	6	0	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:30712267G>C	ENST00000259874.5	-	1	64	c.29C>G	c.(28-30)aCc>aGc	p.T10S	FLOT1_ENST00000376389.3_5'Flank|XXbac-BPG252P9.10_ENST00000607333.1_RNA|FLOT1_ENST00000456573.2_5'Flank|FLOT1_ENST00000470643.1_5'Flank|IER3_ENST00000376377.2_Missense_Mutation_p.T10S	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	10					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glycolytic process (GO:0045820)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|negative regulation of systemic arterial blood pressure (GO:0003085)|positive regulation of protein catabolic process (GO:0045732)|regulation of DNA repair (GO:0006282)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of response to DNA damage stimulus (GO:2001020)|response to protozoan (GO:0001562)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				NS(1)	1						GATGGTCATGGTCGGGTGGCA	0.652																																																	0													5	4	5					6																	30712267		1349	2405	3754	SO:0001583	missense	0			AF083421	CCDS4689.1	6p21.3	2010-02-17			ENSG00000137331	ENSG00000137331			5392	protein-coding gene	gene with protein product		602996				8603392, 9703517	Standard	NM_003897		Approved	IEX-1, DIF-2, PRG1, IEX-1L	uc003nrn.3	P46695	OTTHUMG00000031265	ENST00000259874.5:c.29C>G	6.37:g.30712267G>C	ENSP00000259874:p.Thr10Ser		Q5SU30|Q92691|Q93044	Missense_Mutation	SNP	NULL	p.T10S	ENST00000259874.5	37	c.29	CCDS4689.1	6	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953962	0.53293	.	.	ENSG00000137331	ENST00000259874;ENST00000376377;ENST00000376382	T	0.46819	0.86	5.04	3.19	0.36642	.	0.404731	0.23898	N	0.043478	T	0.24392	0.0591	L	0.57536	1.79	0.09310	N	0.999999	B	0.28971	0.229	B	0.32289	0.143	T	0.17776	-1.0358	10	0.51188	T	0.08	.	8.2663	0.31815	0.0:0.1718:0.6501:0.1781	.	10	P46695	IEX1_HUMAN	S	10	ENSP00000259874:T10S	ENSP00000259874:T10S	T	-	2	0	IER3	30820246	0.618000	0.27051	0.996000	0.52242	0.822000	0.46500	3.157000	0.50716	0.484000	0.27630	0.549000	0.68633	ACC	IER3	-	NULL	ENSG00000137331		0.652	IER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER3	HGNC	protein_coding	OTTHUMT00000076578.2		0	13	0	G			30712267	-1			no_errors	ENST00000259874	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.314	C	C	30712267	G	C	30712267	3	2	44	1	0	0	0	0	1	0	0	0	7533	1261	44	5	449	5	IER3	6	30712267	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2447610	30712267	140402800	102	10651											
HLA-DPB1	3115	genome.wustl.edu	37	chr6	33043881	33043881	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacggcgttactgatggtGctgctcacatctgtggtcca	6	12	12	11	2	2	2	1	2	1	0	3	2	3	2	1	3	3	3	1	3	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:33043881G>T	ENST00000418931.2	+	1	179	c.63G>T	c.(61-63)gtG>gtT	p.V21V	HLA-DPA1_ENST00000428995.1_5'Flank|HLA-DPB1_ENST00000535465.1_Silent_p.V21V|HLA-DPA1_ENST00000419277.1_Intron|HLA-DPA1_ENST00000463066.1_5'Flank	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	21					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						TACTGATGGTGCTGCTCACAT	0.562																																																	0													48	42	44					6																	33043881		1508	2709	4217	SO:0001819	synonymous_variant	0				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.63G>T	6.37:g.33043881G>T			A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V21	ENST00000418931.2	37	c.63	CCDS4765.1	6																																																																																			HLA-DPB1	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000223865		0.562	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	-	0	85	0	G	NM_002121		33043881	1	tier1	-	no_errors	ENST00000418931	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.054	T	T	33043881	G	T	33043881	2	4	44	1	0	0	0	0	0	0	0	1	7230	1306	46	3		3	HLA-DPB1	6	33043881	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2331614	33043881	138071186	103	10652											
BYSL	705	genome.wustl.edu	37	chr6	41899282	41899282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccttttcaaacctggaGcctggttcaaaggtgggatc	9	10	12	10	0	2	0	2	0	0	0	3	2	2	2	3	5	2	1	3	5	2	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:41899282G>T	ENST00000230340.4	+	5	1228	c.853G>T	c.(853-855)Gcc>Tcc	p.A285S		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	285					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAAACCTGGAGCCTGGTTCAA	0.532																																																	0													70	72	72					6																	41899282		2203	4300	6503	SO:0001583	missense	0			L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.853G>T	6.37:g.41899282G>T	ENSP00000230340:p.Ala285Ser		Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	pfam_Bystin	p.A285S	ENST00000230340.4	37	c.853	CCDS34450.1	6	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951042	0.92660	.	.	ENSG00000112578	ENST00000230340	T	0.56611	0.45	5.27	5.27	0.74061	.	0.050726	0.85682	D	0.000000	T	0.70245	0.3202	M	0.87328	2.875	0.80722	D	1	D	0.53462	0.96	P	0.59357	0.856	T	0.75190	-0.3405	10	0.72032	D	0.01	-31.2821	18.6543	0.91445	0.0:0.0:1.0:0.0	.	285	Q13895	BYST_HUMAN	S	285	ENSP00000230340:A285S	ENSP00000230340:A285S	A	+	1	0	BYSL	42007260	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.330000	0.96422	2.745000	0.94114	0.643000	0.83706	GCC	BYSL	-	pfam_Bystin	ENSG00000112578		0.532	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BYSL	HGNC	protein_coding	OTTHUMT00000040535.2	-	0	81	0	G			41899282	1	tier1	-	no_errors	ENST00000230340	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	41899282	G	T	41899282	3	4	44	1	0	0	0	0	1	0	0	0	1580	971	34	3	871	3	BYSL	6	41899282	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	8855401	41899282	129215785	104	10653											
TCTE1	202500	genome.wustl.edu	37	chr6	44253828	44253828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaggtccagctcctccAggtggctcaggccagctacc	8	6	10	17	0	1	0	1	0	0	0	4	0	4	0	6	4	3	3	6	4	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:44253828A>G	ENST00000371505.4	-	3	841	c.719T>C	c.(718-720)cTg>cCg	p.L240P	TCTE1_ENST00000371503.3_Missense_Mutation_p.L87P|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.L87P	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	240										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTCCAGGTGGCTCAG	0.612																																																	0													107	100	102					6																	44253828		2203	4300	6503	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.719T>C	6.37:g.44253828A>G	ENSP00000360560:p.Leu240Pro		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L240P	ENST00000371505.4	37	c.719	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119806	0.77323	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.75477	-0.94;0.01;0.01	4.89	4.89	0.63831	.	0.069585	0.64402	D	0.000016	T	0.81833	0.4906	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84965	0.0879	10	0.87932	D	0	-11.5301	14.4897	0.67642	1.0:0.0:0.0:0.0	.	240	Q5JU00	TCTE1_HUMAN	P	240;87;87	ENSP00000360560:L240P;ENSP00000360558:L87P;ENSP00000360559:L87P	ENSP00000360558:L87P	L	-	2	0	TCTE1	44361806	1.000000	0.71417	0.968000	0.41197	0.982000	0.71751	8.933000	0.92911	1.832000	0.53329	0.379000	0.24179	CTG	TCTE1	-	NULL	ENSG00000146221		0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	-	0	48	0	A	NM_182539		44253828	-1	tier1	-	no_errors	ENST00000371505	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	G	G	44253828	A	G	44253828	3	3	44	1	0	0	0	0	1	0	0	0	15764	188	7	4	798	4	TCTE1	6	44253828	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	2354546	44253828	126861239	105	10654											
GPR116	221395	genome.wustl.edu	37	chr6	46826150	46826150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgtcctcccagttgaGccaacagacattcttcctcg	7	12	8	14	1	1	2	0	1	1	1	5	2	4	2	4	1	2	1	4	1	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:46826150G>T	ENST00000283296.7	-	17	3778	c.3490C>A	c.(3490-3492)Ctc>Atc	p.L1164I	GPR116_ENST00000362015.4_Missense_Mutation_p.L1164I|GPR116_ENST00000456426.2_Missense_Mutation_p.L1022I|GPR116_ENST00000545669.1_Missense_Mutation_p.L593I|GPR116_ENST00000265417.7_Missense_Mutation_p.L1164I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1164					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1164F(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCCCAGTTGAGCCAACAGACA	0.547																																					NSCLC(59;410 1274 8751 36715 50546)												1	Substitution - Missense(1)	endometrium(1)											42	39	40					6																	46826150		2203	4300	6503	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3490C>A	6.37:g.46826150G>T	ENSP00000283296:p.Leu1164Ile		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.L1164I	ENST00000283296.7	37	c.3490	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863712	0.91511	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.38	5.38	0.77491	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000055	T	0.58323	0.2114	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.997;1.0	D;D;D;D;D	0.97110	1.0;0.994;0.999;0.99;0.999	T	0.62464	-0.6849	10	0.87932	D	0	-21.8327	19.5002	0.95091	0.0:0.0:1.0:0.0	.	593;719;1164;1022;1164	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	I	1164;1164;1164;1022;535;1164;593	ENSP00000283296:L1164I;ENSP00000354563:L1164I;ENSP00000412866:L1022I;ENSP00000265417:L1164I;ENSP00000441581:L593I	ENSP00000265417:L1164I	L	-	1	0	GPR116	46934109	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.755000	0.98912	2.679000	0.91253	0.650000	0.86243	CTC	GPR116	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt	ENSG00000069122		0.547	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2		0	57	0	G	NM_015234		46826150	-1			no_errors	ENST00000265417	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	46826150	G	T	46826150	3	4	44	1	0	0	0	0	1	0	0	0	6659	971	34	3	570	3	GPR116	6	46826150	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2572322	46826150	124288917	106	10655											
GCLC	2729	genome.wustl.edu	37	chr6	53363689	53363689	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctataattcatttcatcagtTatgacactgtcttgcttgta	10	18	5	8	0	4	1	3	1	1	0	4	1	4	1	0	0	1	3	0	0	4	8			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:53363689T>G	ENST00000229416.6	-	16	2262	c.1779A>C	c.(1777-1779)atA>atC	p.I593I		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	593					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	TTTCATCAGTTATGACACTGT	0.408																																																	0													148	133	138					6																	53363689		2203	4300	6503	SO:0001819	synonymous_variant	0			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1779A>C	6.37:g.53363689T>G			Q14399	Silent	SNP	pfam_GCS	p.I593	ENST00000229416.6	37	c.1779	CCDS4952.1	6																																																																																			GCLC	-	pfam_GCS	ENSG00000001084		0.408	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLC	HGNC	protein_coding	OTTHUMT00000359710.2		0	36	0	T			53363689	-1			no_errors	ENST00000229416	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.847	G	G	53363689	T	G	53363689	2	3	44	1	0	0	0	0	0	0	0	1	6320	1744	61	4		4	GCLC	6	53363689	Silent	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	6537539	53363689	117751378	107	10656											
COL21A1	81578	genome.wustl.edu	37	chr6	55990409	55990409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctttgtctcctttggcacCcatttcaccctaaaagacaa	10	13	4	14	0	2	1	1	0	1	1	4	1	3	1	4	1	0	1	4	1	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:55990409C>A	ENST00000244728.5	-	14	2003	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	COL21A1_ENST00000370819.1_Missense_Mutation_p.G533C|COL21A1_ENST00000535941.1_Missense_Mutation_p.G536C	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	536	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCTTTGGCACCCATTTCACCC	0.274																																																	0													90	78	82					6																	55990409		1802	4072	5874	SO:0001583	missense	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1606G>T	6.37:g.55990409C>A	ENSP00000244728:p.Gly536Cys		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G536C	ENST00000244728.5	37	c.1606	CCDS55025.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.471460|1.471460	0.26423|0.26423	.|.	.|.	ENSG00000124749|ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811|ENST00000456983	D;D;D|.	0.99637|.	-6.29;-6.29;-6.29|.	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	0.000000|.	0.53938|.	D|.	0.000047|.	D|D	0.86167|0.86167	0.5868|0.5868	H|H	0.97983|0.97983	4.12|4.12	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90569|0.90569	0.4521|0.4521	10|5	0.87932|.	D|.	0|.	.|.	13.2756|13.2756	0.60186|0.60186	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	533;536|.	Q96P44-3;Q96P44|.	.;COLA1_HUMAN|.	C|C	536;533;536;533|99	ENSP00000244728:G536C;ENSP00000359855:G533C;ENSP00000444384:G536C|.	ENSP00000244728:G536C|.	G|W	-|-	1|3	0|0	COL21A1|COL21A1	56098368|56098368	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.397000|0.397000	0.30659|0.30659	3.876000|3.876000	0.56115|0.56115	2.279000|2.279000	0.76181|0.76181	0.650000|0.650000	0.86243|0.86243	GGT|TGG	COL21A1	-	pfam_Collagen	ENSG00000124749		0.274	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	-	0	76	0	C			55990409	-1	tier1	-	no_errors	ENST00000244728	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	A	A	55990409	C	A	55990409	3	1	44	1	0	0	0	0	1	0	0	0	3687	623	22	3	1335	3	COL21A1	6	55990409	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2626720	55990409	115124658	108	10657											
DST	667	genome.wustl.edu	37	chr6	56484508	56484508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgattcaattgcctacCaagctctctgagttgttgag	8	15	10	8	0	2	3	1	3	1	0	3	3	2	3	2	1	3	4	2	1	3	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:56484508C>A	ENST00000370765.6	-	23	4431	c.4324G>T	c.(4324-4326)Ggt>Tgt	p.G1442C	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6280					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AATTGCCTACCAAGCTCTCTG	0.393																																																	0													149	151	150					6																	56484508		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4324G>T	6.37:g.56484508C>A	ENSP00000359801:p.Gly1442Cys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.G1442C	ENST00000370765.6	37	c.4324	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	9.886	1.202826	0.22121	.	.	ENSG00000151914	ENST00000370765	T	0.22743	1.94	5.23	-4.4	0.03600	.	.	.	.	.	T	0.05823	0.0152	.	.	.	0.22479	N	0.999064	P	0.38617	0.64	B	0.36378	0.223	T	0.18398	-1.0338	7	0.59425	D	0.04	.	8.8438	0.35157	0.0:0.4765:0.0964:0.4271	.	1442	Q03001-3	.	C	1442	ENSP00000359801:G1442C	ENSP00000359801:G1442C	G	-	1	0	DST	56592467	0.000000	0.05858	0.000000	0.03702	0.739000	0.42172	0.329000	0.19698	-0.885000	0.03971	0.650000	0.86243	GGT	DST	-	NULL	ENSG00000151914		0.393	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	-	0	64	0	C	NM_001723		56484508	-1	tier1	-	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	A	A	56484508	C	A	56484508	3	1	44	1	0	0	0	0	1	0	0	0	4797	594	21	3	16079	3	DST	6	56484508	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	494099	56484508	114630559	109	10658											
COL12A1	1303	genome.wustl.edu	37	chr6	75866113	75866113	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccttagcaaccatttgcTtccctctcccatgagggcga	8	10	8	15	1	1	1	0	1	1	0	3	2	2	1	4	1	3	3	4	1	2	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:75866113T>G	ENST00000322507.8	-	15	3419	c.3110A>C	c.(3109-3111)aAg>aCg	p.K1037T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.K1037T|COL12A1_ENST00000416123.2_Missense_Mutation_p.K1037T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1037	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACCATTTGCTTCCCTCTCCC	0.468																																																	0													244	228	233					6																	75866113		1967	4157	6124	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3110A>C	6.37:g.75866113T>G	ENSP00000325146:p.Lys1037Thr		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.K1037T	ENST00000322507.8	37	c.3110	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	t	12.79	2.043957	0.36085	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57273	0.41;0.41;0.41	5.46	2.76	0.32466	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.067283	0.64402	D	0.000011	T	0.22898	0.0553	N	0.17800	0.525	0.26627	N	0.972532	B	0.27192	0.171	B	0.36608	0.229	T	0.23332	-1.0191	10	0.56958	D	0.05	.	11.1643	0.48533	0.0:0.7979:0.0:0.2021	.	1037	Q99715	COCA1_HUMAN	T	1037	ENSP00000325146:K1037T;ENSP00000412864:K1037T;ENSP00000421216:K1037T	ENSP00000325146:K1037T	K	-	2	0	COL12A1	75922833	0.755000	0.28372	0.670000	0.29842	0.008000	0.06430	1.934000	0.40163	0.279000	0.22186	-0.212000	0.12691	AAG	COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	81	0	T	NM_004370		75866113	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.873	G	G	75866113	T	G	75866113	3	3	44	1	0	0	0	0	1	0	0	0	3676	1609	56	4	6289	4	COL12A1	6	75866113	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	19381605	75866113	95248954	110	10659											
ZNF292	23036	genome.wustl.edu	37	chr6	87964759	87964759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccattgtgtcttcaatagAtgaactaaatgacagtgaag	15	12	8	6	0	2	4	1	3	1	1	3	4	3	4	1	0	1	0	1	0	6	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:87964759A>G	ENST00000369577.3	+	8	1455	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	ZNF292_ENST00000339907.4_Missense_Mutation_p.D466G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	471						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCTTCAATAGATGAACTAAAT	0.388																																																	0													109	101	104					6																	87964759		1857	4091	5948	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1412A>G	6.37:g.87964759A>G	ENSP00000358590:p.Asp471Gly		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D471G	ENST00000369577.3	37	c.1412	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183207	0.57800	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.36157	1.27;1.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.64997	1.995	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.54990	-0.8210	10	0.72032	D	0.01	.	16.2631	0.82557	1.0:0.0:0.0:0.0	.	471	O60281	ZN292_HUMAN	G	471;466	ENSP00000358590:D471G;ENSP00000342847:D466G	ENSP00000342847:D466G	D	+	2	0	ZNF292	88021478	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	9.339000	0.96797	2.239000	0.73571	0.528000	0.53228	GAT	ZNF292	-	NULL	ENSG00000188994		0.388	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	28	0	A	NM_015021		87964759	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	G	G	87964759	A	G	87964759	3	3	44	1	0	0	0	0	1	0	0	0	17874	333	12	4	1442	4	ZNF292	6	87964759	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	12098646	87964759	83150308	111	10660											
CASP8AP2	9994	genome.wustl.edu	37	chr6	90578430	90578430	+	RNA	DEL	A	A	-																															tctcccagttcatgtgaagtAaaaaaagatgagttaaaatc																								rs371166110		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:90578430delA	ENST00000551025.1	+	0	6858									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CATGTGAAGTAAAAAAAGATG	0.388																																					Colon(187;1656 2025 17045 31481 39901)												0													51	49	50					6																	90578430		1844	4095	5939			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"FLICE-associated huge protein"	606880	"CASP8 associated protein 2"			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90578430delA				RNA	DEL	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.388	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript			0	27	0	A	NM_001137667		90578430	1	tier1		no_errors	ENST00000237177	ensembl	human	known	74_37	rna	6.45	29	2	DEL	0.004	-	-	90578430	A	-	90578430	6	5	44	0	1	1	0	1	0	0	0	0	2685	349	13	0		0	CASP8AP2	6	90578430	RNA	DEL	A	TCGA-JY-A93D-01A-11D-A387-09	2613671	90578430	80536637	112	10661											
KLHL32	114792	genome.wustl.edu	37	chr6	97423886	97423886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtagtattcaagaaatgCtgacaggccagaggctctgc	11	11	11	8	0	2	3	1	1	1	2	2	3	2	3	1	2	2	4	1	2	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:97423886C>T	ENST00000369261.4	+	3	400	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000536676.1_Silent_p.L13L|KLHL32_ENST00000539200.1_Silent_p.L13L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	13										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TCAAGAAATGCTGACAGGCCA	0.512																																																	0													65	62	63					6																	97423886		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.37C>T	6.37:g.97423886C>T			B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L13	ENST00000369261.4	37	c.37	CCDS5038.1	6																																																																																			KLHL32	-	pirsf_Kelch-like_gigaxonin	ENSG00000186231		0.512	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1		0	60	0	C	NM_052904		97423886	1			no_errors	ENST00000369261	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	97423886	C	T	97423886	2	4	44	1	0	0	0	0	0	0	0	1	8413	796	28	3		3	KLHL32	6	97423886	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	6845456	97423886	73691181	113	10662											
SOBP	55084	genome.wustl.edu	37	chr6	107955614	107955614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctggtgccgcccccgacCctgctcgtgccgtaccccgt	2	7	11	21	6	0	0	0	0	0	0	1	1	0	0	8	1	4	3	8	1	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:107955614C>T	ENST00000317357.5	+	6	2225	c.1566C>T	c.(1564-1566)acC>acT	p.T522T		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGCCCCCGACCCTGCTCGTGC	0.667																																																	0													15	18	17					6																	107955614		2033	4157	6190	SO:0001819	synonymous_variant	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1566C>T	6.37:g.107955614C>T				Silent	SNP	NULL	p.T522	ENST00000317357.5	37	c.1566	CCDS43488.1	6																																																																																			SOBP	-	NULL	ENSG00000112320		0.667	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0	70	0	C	NM_018013		107955614	1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	silent	12.50	42	6	SNP	1.000	T	T	107955614	C	T	107955614	2	4	44	1	0	0	0	0	0	0	0	1	14957	610	22	3		3	SOBP	6	107955614	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	10531728	107955614	63159453	114	10663											
PDE7B	27115	genome.wustl.edu	37	chr6	136468525	136468525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagattggcaccaagaaaaAggtgaaaagactattaagct	18	7	11	5	0	0	4	0	1	0	3	0	5	0	4	1	3	1	2	1	3	7	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr6:136468525A>G	ENST00000308191.6	+	4	506	c.203A>G	c.(202-204)aAg>aGg	p.K68R	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	68					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	ACCAAGAAAAAGGTGAAAAGA	0.408																																																	0													111	114	113					6																	136468525		2203	4300	6503	SO:0001583	missense	0			AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"Phosphodiesterases"	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.203A>G	6.37:g.136468525A>G	ENSP00000310661:p.Lys68Arg		Q5W154	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.K68R	ENST00000308191.6	37	c.203	CCDS5175.1	6	.	.	.	.	.	.	.	.	.	.	A	13.84	2.355780	0.41700	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	T	0.69306	-0.39	5.15	5.15	0.70609	.	0.685525	0.14394	N	0.322327	T	0.43100	0.1232	N	0.24115	0.695	0.50467	D	0.999878	D;B	0.56521	0.976;0.011	P;B	0.47206	0.541;0.013	T	0.36311	-0.9753	10	0.11485	T	0.65	.	15.2748	0.73734	1.0:0.0:0.0:0.0	.	120;68	A1E5M1;Q9NP56	.;PDE7B_HUMAN	R	68;204	ENSP00000310661:K68R	ENSP00000310661:K68R	K	+	2	0	PDE7B	136510218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.676000	0.74498	2.072000	0.62099	0.533000	0.62120	AAG	PDE7B	-	NULL	ENSG00000171408		0.408	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7B	HGNC	protein_coding	OTTHUMT00000042371.1	-	0	58	0	A			136468525	1	tier1	-	no_errors	ENST00000308191	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G	G	136468525	A	G	136468525	3	3	44	1	0	0	0	0	1	0	0	0	11691	72	3	4	217	4	PDE7B	6	136468525	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	28512911	136468525	34646542	115	10664											
SDK1	221935	genome.wustl.edu	37	chr7	4245555	4245555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggtgaccccactcacgGccagccagctggaggtcacg	8	5	13	15	2	2	1	2	1	0	0	2	2	2	2	4	4	3	2	4	4	0	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:4245555G>A	ENST00000404826.2	+	36	5282	c.5143G>A	c.(5143-5145)Gcc>Acc	p.A1715T	SDK1_ENST00000389531.3_Missense_Mutation_p.A1695T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1715	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACTCACGGCCAGCCAGCT	0.657																																																	0													58	43	48					7																	4245555		2169	4255	6424	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5143G>A	7.37:g.4245555G>A	ENSP00000385899:p.Ala1715Thr		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1715T	ENST00000404826.2	37	c.5143	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121996	0.56613	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57273	0.41;0.41	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.083134	0.49916	D	0.000137	T	0.65375	0.2685	M	0.74546	2.27	0.41569	D	0.988673	P;P;P	0.52170	0.799;0.78;0.951	B;P;P	0.49799	0.359;0.474;0.622	T	0.70687	-0.4803	10	0.66056	D	0.02	.	19.3227	0.94248	0.0:0.0:1.0:0.0	.	1695;202;1715	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	T	1715;1695	ENSP00000385899:A1715T;ENSP00000374182:A1695T	ENSP00000374182:A1695T	A	+	1	0	SDK1	4212081	1.000000	0.71417	0.995000	0.50966	0.547000	0.35210	5.065000	0.64344	2.557000	0.86248	0.655000	0.94253	GCC	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	35	0	G	NM_152744		4245555	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.976	A	A	4245555	G	A	4245555	3	1	44	1	0	0	0	0	1	0	0	0	14013	1203	42	3	5285	3	SDK1	7	4245555	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		4245555	154893108	116	10665											
MACC1	346389	genome.wustl.edu	37	chr7	20201457	20201457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcaattcttcctgacCgaaaatgttttctttcagtg	8	18	7	8	1	3	1	1	1	2	0	4	2	4	1	2	0	1	2	2	0	3	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:20201457C>G	ENST00000400331.5	-	4	337	c.29G>C	c.(28-30)cGg>cCg	p.R10P	MACC1_ENST00000589011.1_Missense_Mutation_p.R10P|MACC1_ENST00000332878.4_Missense_Mutation_p.R10P|MACC1_ENST00000471019.1_5'Flank	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	10					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TCTTCCTGACCGAAAATGTTT	0.323																																																	0													131	129	129					7																	20201457		2202	4300	6502	SO:0001583	missense	0				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.29G>C	7.37:g.20201457C>G	ENSP00000383185:p.Arg10Pro		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like_dom	p.R10P	ENST00000400331.5	37	c.29	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	C	1.159	-0.644296	0.03531	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.10668	2.85;2.85	5.47	0.851	0.18989	.	0.388697	0.24381	N	0.039011	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.23716	0.048	T	0.37731	-0.9693	10	0.35671	T	0.21	3.7954	6.7622	0.23546	0.3929:0.4931:0.0:0.1141	.	10	Q6ZN28	MACC1_HUMAN	P	10	ENSP00000383185:R10P;ENSP00000328410:R10P	ENSP00000328410:R10P	R	-	2	0	MACC1	20167982	0.000000	0.05858	0.036000	0.18154	0.080000	0.17528	-0.409000	0.07160	0.339000	0.23719	-0.147000	0.13772	CGG	MACC1	-	NULL	ENSG00000183742		0.323	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	-	0	49	0	C	NM_182762		20201457	-1	tier1	-	no_errors	ENST00000332878	ensembl	human	known	74_37	missense	8.77	51	5	SNP	0.000	G	G	20201457	C	G	20201457	3	3	44	1	0	0	0	0	1	0	0	0	9179	652	23	5	2545	5	MACC1	7	20201457	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	15955902	20201457	138937206	117	10666											
ELMO1	9844	genome.wustl.edu	37	chr7	37251021	37251021	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttataatctcgcgtGtacatggacttgcgtttctc	7	16	8	10	3	3	0	0	0	3	0	5	1	3	1	0	1	3	3	0	1	3	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:37251021G>T	ENST00000310758.4	-	13	1703	c.1056C>A	c.(1054-1056)taC>taA	p.Y352*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Y352*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Y352*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	352	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AATCTCGCGTGTACATGGACT	0.483																																																	0													183	131	148					7																	37251021		2203	4300	6503	SO:0001587	stop_gained	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1056C>A	7.37:g.37251021G>T	ENSP00000312185:p.Tyr352*		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.Y352*	ENST00000310758.4	37	c.1056	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.242987|10.242987	0.99367|0.99367	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	.|.	.|.	.|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.31949|.	0.0813|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18398|.	-1.0338|.	4|.	.|0.02654	.|T	.|1	.|.	10.276|10.276	0.43510|0.43510	0.1255:0.0:0.8745:0.0|0.1255:0.0:0.8745:0.0	.|.	.|.	.|.	.|.	K|X	132|352;256;352;352;93	.|.	.|ENSP00000312185:Y352X	T|Y	-|-	2|3	0|2	ELMO1|ELMO1	37217546|37217546	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.803000|0.803000	0.45373|0.45373	4.668000|4.668000	0.61568|0.61568	2.652000|2.652000	0.90054|0.90054	0.491000|0.491000	0.48974|0.48974	ACA|TAC	ELMO1	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000155849		0.483	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4		0	82	0	G	NM_130442		37251021	-1			no_errors	ENST00000310758	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	T	T	37251021	G	T	37251021	4	4	44	1	0	0	0	0	0	1	0	0	5081	1372	48	3	1167	3	ELMO1	7	37251021	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	17049564	37251021	121887642	118	10667											
ABCA13	154664	genome.wustl.edu	37	chr7	48619925	48619925	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggttgggaacatctctaTtattactgtagcttacgcgg	9	14	10	8	2	1	0	0	0	1	0	2	1	1	1	0	3	4	3	0	3	6	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:48619925T>G	ENST00000435803.1	+	56	14484	c.14460T>G	c.(14458-14460)taT>taG	p.Y4820*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.Y550*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4820	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACATCTCTATTATTACTGTA	0.542																																																	0													53	54	53					7																	48619925		1920	4112	6032	SO:0001587	stop_gained	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14460T>G	7.37:g.48619925T>G	ENSP00000411096:p.Tyr4820*		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y4820*	ENST00000435803.1	37	c.14460	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	53	21.296898	0.99939	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	.	.	.	5.11	-8.92	0.00774	.	1.173460	0.06319	N	0.704076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.1601	0.03822	0.2435:0.3894:0.1186:0.2485	.	.	.	.	X	4820;593;550	.	ENSP00000391042:Y593X	Y	+	3	2	ABCA13	48590471	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-1.158000	0.03153	-2.187000	0.00759	-0.276000	0.10085	TAT	ABCA13	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.542	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	43	0	T	NM_152701		48619925	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	nonsense	17.91	55	12	SNP	0.001	G	G	48619925	T	G	48619925	4	3	44	1	0	0	0	0	0	1	0	0	31	1500	52	4	14511	4	ABCA13	7	48619925	Nonsense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	11368904	48619925	110518738	119	10668											
CROT	54677	genome.wustl.edu	37	chr7	86990707	86990707	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcaatttcttttagcTggaagagtggtggctgaatg	8	16	12	5	0	2	2	1	1	2	1	3	3	2	3	0	3	1	3	0	3	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:86990707T>C	ENST00000331536.3	+	5	427	c.242T>C	c.(241-243)cTg>cCg	p.L81P	CROT_ENST00000419147.2_Splice_Site_p.L109P|CROT_ENST00000442291.1_Splice_Site_p.L81P	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	81					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTCTTTTAGCTGGAAGAGTGG	0.363																																																	0													133	122	126					7																	86990707		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.241-1T>C	7.37:g.86990707T>C			A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.L81P	ENST00000331536.3	37	c.242	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437092	0.83885	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.91124	-2.79;-2.79;-2.79	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97732	1.0203	10	0.87932	D	0	-10.3524	16.6407	0.85098	0.0:0.0:0.0:1.0	.	109;81	E7EQF2;Q9UKG9	.;OCTC_HUMAN	P	109;81;81	ENSP00000413575:L109P;ENSP00000331981:L81P;ENSP00000411983:L81P	ENSP00000331981:L81P	L	+	2	0	CROT	86828643	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.740000	0.84986	2.326000	0.78906	0.533000	0.62120	CTG	CROT	-	pfam_Carn_acyl_trans	ENSG00000005469		0.363	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	-	0	63	0	T	NM_021151	Missense_Mutation	86990707	1	tier1	-	no_errors	ENST00000331536	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C	C	86990707	T	C	86990707	5	2	44	1	0	0	0	0	0	0	1	0	3901	1594	55	4	340	4	CROT	7	86990707	Splice_Site	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	38370782	86990707	72147956	120	10669											
ZNF804B	219578	genome.wustl.edu	37	chr7	88964744	88964744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggcaaaaatcaacaacaAttttcagggctaaaatctac	17	9	6	9	0	3	0	2	0	1	0	3	0	3	0	0	2	3	2	0	2	8	4	rs199698606		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:88964744A>C	ENST00000333190.4	+	4	3057	c.2448A>C	c.(2446-2448)caA>caC	p.Q816H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	816							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATCAACAACAATTTTCAGGGC	0.358										HNSCC(36;0.09)																																							0													47	48	48					7																	88964744		2197	4293	6490	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2448A>C	7.37:g.88964744A>C	ENSP00000329638:p.Gln816His		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.Q816H	ENST00000333190.4	37	c.2448	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695669	0.30052	.	.	ENSG00000182348	ENST00000333190	T	0.05382	3.45	5.19	-1.49	0.08718	.	0.534272	0.18237	N	0.147346	T	0.07593	0.0191	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.31724	-0.9933	10	0.32370	T	0.25	-5.3836	11.5099	0.50488	0.4725:0.0:0.5275:0.0	.	816	A4D1E1	Z804B_HUMAN	H	816	ENSP00000329638:Q816H	ENSP00000329638:Q816H	Q	+	3	2	ZNF804B	88802680	0.000000	0.05858	0.002000	0.10522	0.929000	0.56500	-0.143000	0.10296	-0.120000	0.11809	0.533000	0.62120	CAA	ZNF804B	-	NULL	ENSG00000182348		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	30	0	A	NM_181646		88964744	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.000	C	C	88964744	A	C	88964744	3	2	44	1	0	0	0	0	1	0	0	0	18219	98	4	4	2462	4	ZNF804B	7	88964744	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	1974037	88964744	70173919	121	10670											
ZAN	7455	genome.wustl.edu	37	chr7	100377076	100377076	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttcccagttgtcagaGtctcctggtagatgagcagc	7	12	10	12	0	2	3	1	1	1	2	5	3	4	3	3	1	2	3	3	1	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:100377076G>T	ENST00000348028.3	+	0	6490				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTTGTCAGAGTCTCCTGGTA	0.552																																																	0													25	27	26					7																	100377076		2058	4195	6253			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377076G>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.S2108I	ENST00000348028.3	37	c.6323		7	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980907	0.34942	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.24350	2.39;2.38;2.35;1.86	4.14	-3.4	0.04853	von Willebrand factor, type D domain (1);	4.479350	0.00639	N	0.000517	T	0.10937	0.0267	.	.	.	0.09310	N	1	B;B;B	0.24651	0.108;0.108;0.066	B;B;B	0.15484	0.013;0.013;0.006	T	0.08371	-1.0725	9	0.17832	T	0.49	.	0.8844	0.01241	0.264:0.3354:0.236:0.1646	.	619;2108;2109	F5GX59;F5H0T8;Q9Y493	.;.;ZAN_HUMAN	I	2108;2108;2108;619	ENSP00000445943:S2108I;ENSP00000445091:S2108I;ENSP00000444427:S2108I;ENSP00000441117:S619I	ENSP00000445091:S2108I	S	+	2	0	ZAN	100215012	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.656000	0.05342	-0.481000	0.06792	-0.694000	0.03704	AGT	ZAN	-	NULL	ENSG00000146839		0.552	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	58	0	G	NM_003386		100377076	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	T	T	100377076	G	T	100377076	1	4	44	0	1	0	0	0	0	0	0	0	17562	1029	36	3		3	ZAN	7	100377076	RNA	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	11412332	100377076	58761587	122	10671											
HBP1	26959	genome.wustl.edu	37	chr7	106823018	106823018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgcgaccagtccacaaagtCcactgatgcagtgctcattt	10	10	8	13	2	1	1	1	1	0	0	4	2	3	1	3	0	2	2	3	0	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:106823018C>T	ENST00000222574.4	+	3	556	c.370C>T	c.(370-372)Cca>Tca	p.P124S	HBP1_ENST00000485846.1_Missense_Mutation_p.P124S|HBP1_ENST00000468410.1_Missense_Mutation_p.P124S	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	124					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TCCACAAAGTCCACTGATGCA	0.343																																																	0													49	45	47					7																	106823018		2203	4300	6503	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.370C>T	7.37:g.106823018C>T	ENSP00000222574:p.Pro124Ser		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.P124S	ENST00000222574.4	37	c.370	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622743	0.66787	.	.	ENSG00000105856	ENST00000468410;ENST00000464009;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99797	-6.79;-6.79;-6.79	5.86	5.86	0.93980	.	0.044304	0.85682	D	0.000000	D	0.99318	0.9761	L	0.34521	1.04	0.80722	D	1	P;D;D	0.61697	0.799;0.99;0.983	B;P;P	0.51806	0.234;0.68;0.481	D	0.99301	1.0901	10	0.87932	D	0	-12.5515	20.1865	0.98220	0.0:1.0:0.0:0.0	.	134;124;124	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	S	124;124;124;124;116	ENSP00000420500:P124S;ENSP00000222574:P124S;ENSP00000418738:P124S	ENSP00000222574:P124S	P	+	1	0	HBP1	106610254	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	5.949000	0.70257	2.775000	0.95449	0.655000	0.94253	CCA	HBP1	-	NULL	ENSG00000105856		0.343	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0	56	0	C	NM_012257		106823018	1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T	T	106823018	C	T	106823018	3	4	44	1	0	0	0	0	1	0	0	0	7012	855	30	3	376	3	HBP1	7	106823018	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	6445942	106823018	52315645	123	10672											
KCND2	3751	genome.wustl.edu	37	chr7	119915139	119915139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcgcctgcaggacgaCgcggataccgacaccgctgg	8	3	15	15	7	0	0	0	0	0	0	0	5	0	2	4	3	3	2	4	3	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:119915139C>T	ENST00000331113.4	+	1	1418	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	151					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGCAGGACGACGCGGATACCG	0.627																																																	0													75	77	77					7																	119915139		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.453C>T	7.37:g.119915139C>T			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.D151	ENST00000331113.4	37	c.453	CCDS5776.1	7																																																																																			KCND2	-	prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2	ENSG00000184408		0.627	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	-	0	21	0	C	NM_012281		119915139	1	tier1	-	no_errors	ENST00000331113	ensembl	human	known	74_37	silent	69.23	4	9	SNP	0.859	T	T	119915139	C	T	119915139	2	4	44	1	0	0	0	0	0	0	0	1	8046	535	19	1		1	KCND2	7	119915139	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	13092121	119915139	39223524	124	10673											
KLHDC10	23008	genome.wustl.edu	37	chr7	129736765	129736765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataattgtggtaacaggtaaGaagaaaatacgatgggaccc	17	8	11	5	1	0	2	0	0	0	2	0	4	0	3	1	3	2	2	1	3	7	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:129736765G>T	ENST00000335420.5	+	2	305	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	57						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.K57N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						TAACAGGTAAGAAGAAAATAC	0.383																																																	1	Substitution - Missense(1)	lung(1)											136	139	138					7																	129736765		2203	4300	6503	SO:0001583	missense	0				CCDS5815.1	7q32.2	2008-08-20			ENSG00000128607	ENSG00000128607			22194	protein-coding gene	gene with protein product	"scruin like at the midline homolog (Drosophila)"	615152					Standard	NM_014997		Approved	KIAA0265, slim	uc003vpj.2	Q6PID8	OTTHUMG00000157654	ENST00000335420.5:c.171G>T	7.37:g.129736765G>T	ENSP00000334140:p.Lys57Asn		Q86Y99|Q92554	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	p.K57N	ENST00000335420.5	37	c.171	CCDS5815.1	7	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313351	0.81358	.	.	ENSG00000128607	ENST00000335420	T	0.06294	3.32	4.87	4.87	0.63330	.	0.391386	0.27876	N	0.017492	T	0.05686	0.0149	N	0.24115	0.695	0.58432	D	0.999997	B	0.27498	0.18	B	0.27170	0.077	T	0.48703	-0.9012	10	0.20519	T	0.43	-10.2928	15.8749	0.79154	0.0:0.0:1.0:0.0	.	57	Q6PID8	KLD10_HUMAN	N	57	ENSP00000334140:K57N	ENSP00000334140:K57N	K	+	3	2	KLHDC10	129524001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.120000	0.71596	2.693000	0.91896	0.491000	0.48974	AAG	KLHDC10	-	NULL	ENSG00000128607		0.383	KLHDC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC10	HGNC	protein_coding	OTTHUMT00000349347.2		0	37	0	G			129736765	1			no_errors	ENST00000335420	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	129736765	G	T	129736765	3	4	44	1	0	0	0	0	1	0	0	0	8382	933	33	3	177	3	KLHDC10	7	129736765	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	9821626	129736765	29401898	125	10674											
CREB3L2	64764	genome.wustl.edu	37	chr7	137565290	137565290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcccctccagtttggCgctgaccctgtgaaggcatt	6	13	9	13	1	1	2	1	2	0	0	3	2	3	2	4	2	0	3	4	2	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:137565290C>T	ENST00000330387.6	-	12	1846	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	499					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCAGTTTGGCGCTGACCCTG	0.458			T	FUS	fibromyxoid sarcoma																																			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													124	97	106					7																	137565290		2203	4300	6503	SO:0001583	missense	0			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.1495G>A	7.37:g.137565290C>T	ENSP00000329140:p.Ala499Thr		Q6P454|Q6ZMR6	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.A499T	ENST00000330387.6	37	c.1495	CCDS34760.1	7	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264711	0.40095	.	.	ENSG00000182158	ENST00000330387	T	0.57752	0.38	5.3	-7.39	0.01402	.	1.247950	0.05251	N	0.514033	T	0.26412	0.0645	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07195	-1.0785	10	0.12766	T	0.61	-0.4631	9.9392	0.41570	0.1659:0.139:0.0:0.6951	.	499	Q70SY1	CR3L2_HUMAN	T	499	ENSP00000329140:A499T	ENSP00000329140:A499T	A	-	1	0	CREB3L2	137215830	0.672000	0.27530	0.318000	0.25279	0.994000	0.84299	-0.646000	0.05403	-2.087000	0.00862	-0.136000	0.14681	GCC	CREB3L2	-	NULL	ENSG00000182158		0.458	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	-	0	57	0	C	NM_194071		137565290	-1	tier1	-	no_errors	ENST00000330387	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.774	T	T	137565290	C	T	137565290	3	4	44	1	0	0	0	0	1	0	0	0	3864	768	27	1	71	1	CREB3L2	7	137565290	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	7828525	137565290	21573373	126	10675											
EPHB6	2051	genome.wustl.edu	37	chr7	142568320	142568320	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacccctgtggccctggacTttccttgtctggactcaccc	4	12	9	16	0	2	1	1	1	1	0	3	3	3	3	5	3	0	0	5	3	0	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:142568320T>A	ENST00000392957.2	+	19	3626	c.2839T>A	c.(2839-2841)Ttt>Att	p.F947I	EPHB6_ENST00000411471.2_Missense_Mutation_p.F670I|EPHB6_ENST00000476059.1_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.F947I	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	947						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCTGGACTTTCCTTGTCT	0.567																																																	0													79	83	82					7																	142568320		2203	4300	6503	SO:0001583	missense	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.2839T>A	7.37:g.142568320T>A	ENSP00000376684:p.Phe947Ile		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.F947I	ENST00000392957.2	37	c.2839	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550474	0.86127	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.06218	3.33;3.33;3.33	5.43	5.43	0.79202	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.49305	D	0.000158	T	0.13586	0.0329	L	0.52126	1.63	0.48830	D	0.999711	P;P	0.49862	0.929;0.831	P;P	0.52309	0.695;0.487	T	0.01688	-1.1295	10	0.38643	T	0.18	.	14.6626	0.68882	0.0:0.0:0.0:1.0	.	947;670	O15197;O15197-2	EPHB6_HUMAN;.	I	947;947;670	ENSP00000376684:F947I;ENSP00000410789:F947I;ENSP00000409061:F670I	ENSP00000376684:F947I	F	+	1	0	EPHB6	142278442	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	4.360000	0.59455	2.043000	0.60533	0.533000	0.62120	TTT	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_SAM/pointed,smart_SAM	ENSG00000106123		0.567	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	-	0	53	0	T			142568320	1	tier1	-	no_errors	ENST00000392957	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	A	A	142568320	T	A	142568320	3	1	44	1	0	0	0	0	1	0	0	0	5194	1609	56	5	2897	5	EPHB6	7	142568320	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	5003030	142568320	16570343	127	10676											
GSTK1	373156	genome.wustl.edu	37	chr7	142965910	142965910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggccctatacctccaGccgtgaatgccagactttaa	10	9	10	12	1	0	2	0	1	0	1	1	3	1	3	5	2	3	0	5	2	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr7:142965910G>A	ENST00000358406.5	+	8	732	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	GSTK1_ENST00000409500.3_Missense_Mutation_p.A209T|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.A178T|GSTK1_ENST00000479303.1_Missense_Mutation_p.A277T	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	221					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	TATACCTCCAGCCGTGAATGC	0.507																																																	0													95	85	88					7																	142965910		2203	4300	6503	SO:0001583	missense	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.661G>A	7.37:g.142965910G>A	ENSP00000351181:p.Ala221Thr		B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	p.A277T	ENST00000358406.5	37	c.829	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	G	15.82	2.944795	0.53079	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.58	2.33	0.28932	Thioredoxin-like fold (1);	0.299685	0.38005	N	0.001857	T	0.25005	0.0607	L	0.31926	0.97	0.09310	N	1	B;B;B;B	0.26876	0.038;0.082;0.162;0.0	B;B;B;B	0.22386	0.007;0.034;0.039;0.001	T	0.12682	-1.0538	9	0.20046	T	0.44	-13.6256	5.6233	0.17469	0.1319:0.0:0.6984:0.1697	.	209;178;277;221	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	T	209;178;221;277	.	ENSP00000351181:A221T	A	+	1	0	GSTK1	142676032	0.000000	0.05858	0.125000	0.21846	0.937000	0.57800	0.344000	0.19962	0.552000	0.29026	0.650000	0.86243	GCC	GSTK1	-	superfamily_Thioredoxin-like_fold	ENSG00000197448		0.507	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	HGNC	protein_coding	OTTHUMT00000327091.1	-	0	56	0	G	NM_015917		142965910	1	tier1	-	no_errors	ENST00000479303	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.008	A	A	142965910	G	A	142965910	3	1	44	1	0	0	0	0	1	0	0	0	6863	971	34	3	855	3	GSTK1	7	142965910	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	397590	142965910	16172753	128	10677											
MYOM2	9172	genome.wustl.edu	37	chr8	2000309	2000309	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcttcccagaagtcCttgagtcagcggtcgtcttc	7	11	10	13	2	3	2	1	1	2	1	7	2	5	2	2	2	1	1	2	2	1	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:2000309C>G	ENST00000262113.4	+	3	282	c.141C>G	c.(139-141)tcC>tcG	p.S47S	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	47					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCAGAAGTCCTTGAGTCAGC	0.552																																																	0													205	184	191					8																	2000309		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.141C>G	8.37:g.2000309C>G			Q7Z3Y2	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S47	ENST00000262113.4	37	c.141	CCDS5957.1	8																																																																																			MYOM2	-	NULL	ENSG00000036448		0.552	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	44	0	C	NM_003970		2000309	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	silent	13.51	32	5	SNP	0.000	G	G	2000309	C	G	2000309	2	3	44	1	0	0	0	0	0	0	0	1	10130	668	24	5		5	MYOM2	8	2000309	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09		2000309	144363713	129	10678											
LZTS1	11178	genome.wustl.edu	37	chr8	20110624	20110624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctggagggcgccctccCtctccaacagcttctgctcc	4	10	9	18	1	3	0	0	0	3	0	6	1	5	1	4	2	3	3	4	2	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:20110624C>T	ENST00000381569.1	-	3	1175	c.818G>A	c.(817-819)aGg>aAg	p.R273K	LZTS1_ENST00000265801.6_Missense_Mutation_p.R273K|LZTS1_ENST00000522290.1_Missense_Mutation_p.R273K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	273					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGCGCCCTCCCTCTCCAACAG	0.667																																																	0													42	39	40					8																	20110624		2192	4288	6480	SO:0001583	missense	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.818G>A	8.37:g.20110624C>T	ENSP00000370981:p.Arg273Lys		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	NULL	p.R273K	ENST00000381569.1	37	c.818	CCDS6015.1	8	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073340	0.76415	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.24350	2.22;2.22;1.86	5.52	5.52	0.82312	.	0.180431	0.64402	D	0.000020	T	0.42720	0.1215	L	0.41415	1.275	0.54753	D	0.999981	D;D	0.76494	0.996;0.999	D;D	0.78314	0.919;0.991	T	0.05402	-1.0887	10	0.28530	T	0.3	-68.3567	17.9799	0.89138	0.0:1.0:0.0:0.0	.	273;273	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	K	273	ENSP00000370981:R273K;ENSP00000265801:R273K;ENSP00000429263:R273K	ENSP00000265801:R273K	R	-	2	0	LZTS1	20154904	1.000000	0.71417	0.999000	0.59377	0.275000	0.26752	2.690000	0.47001	2.594000	0.87642	0.561000	0.74099	AGG	LZTS1	-	NULL	ENSG00000061337		0.667	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	-	0	55	0	C	NM_021020		20110624	-1	tier1	-	no_errors	ENST00000265801	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T	T	20110624	C	T	20110624	3	4	44	1	0	0	0	0	1	0	0	0	9174	681	24	3	980	3	LZTS1	8	20110624	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	18110315	20110624	126253398	130	10679											
MYST3	7994	genome.wustl.edu	37	chr8	41800501	41800501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggataagtttttccCggcggataatcacaaatctg	11	12	9	9	2	2	0	1	0	1	0	4	3	4	2	2	3	0	1	2	3	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:41800501C>T	ENST00000396930.3	-	15	2789	c.2246G>A	c.(2245-2247)cGg>cAg	p.R749Q	KAT6A_ENST00000485568.1_Missense_Mutation_p.R749Q|KAT6A_ENST00000406337.1_Missense_Mutation_p.R749Q|KAT6A_ENST00000265713.2_Missense_Mutation_p.R749Q	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	749	Catalytic.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AAGTTTTTCCCGGCGGATAAT	0.428																																																	0													86	82	83					8																	41800501		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2246G>A	8.37:g.41800501C>T	ENSP00000380136:p.Arg749Gln		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R749Q	ENST00000396930.3	37	c.2246	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835720	0.71373	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.84146	0.2;0.2;0.2;-1.81	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	D	0.92482	0.7613	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.75484	0.948;0.986	D	0.90894	0.4763	10	0.44086	T	0.13	-24.6532	20.5792	0.99380	0.0:1.0:0.0:0.0	.	749;749	A5PLL3;Q92794	.;KAT6A_HUMAN	Q	749;749;749;329;749	ENSP00000265713:R749Q;ENSP00000385888:R749Q;ENSP00000380136:R749Q;ENSP00000430606:R749Q	ENSP00000265713:R749Q	R	-	2	0	KAT6A	41919658	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.727000	0.68523	2.873000	0.98535	0.561000	0.74099	CGG	KAT6A	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000083168		0.428	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0	65	0	C	NM_006766		41800501	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	T	T	41800501	C	T	41800501	3	4	44	1	0	0	0	0	1	0	0	0	10142	652	23	1	3784	1	MYST3	8	41800501	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	21689877	41800501	104563521	131	10680											
SNAI2	6591	genome.wustl.edu	37	chr8	49832485	49832485	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaatgtgtccttgaagcaAccagggtctggaaaacgcct	11	10	10	10	1	2	1	0	1	2	0	3	2	3	2	3	2	3	1	3	2	5	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:49832485A>C	ENST00000396822.1	-	3	952	c.595T>G	c.(595-597)Ttg>Gtg	p.L199V	SNAI2_ENST00000020945.1_Missense_Mutation_p.L199V			O43623	SNAI2_HUMAN	snail family zinc finger 2	199					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CCTTGAAGCAACCAGGGTCTG	0.488																																																	0													104	110	108					8																	49832485		2203	4300	6503	SO:0001583	missense	0			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.595T>G	8.37:g.49832485A>C	ENSP00000380034:p.Leu199Val		B2R6P6|Q53FC1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L199V	ENST00000396822.1	37	c.595	CCDS6146.1	8	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163778	0.57476	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.07567	3.18;3.18	5.34	-3.24	0.05094	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.11537	0.0281	N	0.12920	0.275	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00015	-1.2400	10	0.33141	T	0.24	-8.268	14.7629	0.69619	0.4034:0.0:0.5966:0.0	.	199	O43623	SNAI2_HUMAN	V	199	ENSP00000020945:L199V;ENSP00000380034:L199V	ENSP00000020945:L199V	L	-	1	2	SNAI2	49995038	0.993000	0.37304	0.950000	0.38849	0.985000	0.73830	0.295000	0.19065	-0.852000	0.04141	-0.250000	0.11733	TTG	SNAI2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000019549		0.488	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI2	HGNC	protein_coding	OTTHUMT00000313873.2	-	0	63	0	A	NM_003068		49832485	-1	tier1	-	no_errors	ENST00000020945	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.992	C	C	49832485	A	C	49832485	3	2	44	1	0	0	0	0	1	0	0	0	14872	40	2	4	219	4	SNAI2	8	49832485	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	8031984	49832485	96531537	132	10681											
RAD54B	25788	genome.wustl.edu	37	chr8	95390589	95390589	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgatctgcctttgataGatcttttcttctattgtacc	7	20	5	9	0	4	3	0	2	4	1	4	3	4	3	2	0	3	1	2	0	4	9			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:95390589G>T	ENST00000336148.5	-	14	2458	c.2334C>A	c.(2332-2334)atC>atA	p.I778I		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	778	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCCTTTGATAGATCTTTTCTT	0.323								Direct reversal of damage;Homologous recombination																																									0													76	67	70					8																	95390589		2203	4300	6503	SO:0001819	synonymous_variant	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2334C>A	8.37:g.95390589G>T			F6WBS8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I778	ENST00000336148.5	37	c.2334	CCDS6262.1	8																																																																																			RAD54B	-	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000197275		0.323	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3		0	30	0	G	NM_012415		95390589	-1			no_errors	ENST00000336148	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.994	T	T	95390589	G	T	95390589	2	4	44	1	0	0	0	0	0	0	0	1	13037	932	33	3		3	RAD54B	8	95390589	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	45558104	95390589	50973433	133	10682											
VPS13B	157680	genome.wustl.edu	37	chr8	100286533	100286533	+	Frame_Shift_Del	DEL	T	T	-																															gtgcctctgggaccatgggaTcaataaaaatttgtgccaaa																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:100286533delT	ENST00000358544.2	+	18	2734	c.2623delT	c.(2623-2625)tcafs	p.S875fs	VPS13B_ENST00000395996.1_Frame_Shift_Del_p.S875fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.S875fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	875					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GACCATGGGATCAATAAAAAT	0.453																																					Colon(161;2205 2542 7338 31318)												0													97	101	100					8																	100286533		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2623delT	8.37:g.100286533delT	ENSP00000351346:p.Ser875fs		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	pfam_Autophagy-rel_C	p.S875fs	ENST00000358544.2	37	c.2623	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0	84	0	T	NM_184042		100286533	1	tier1		no_errors	ENST00000358544	ensembl	human	known	74_37	frame_shift_del	15.62	81	15	DEL	1.000	-	-	100286533	T	-	100286533	7	5	44	1	0	1	0	1	0	0	0	0	17239	1435	50	0	2812	0	VPS13B	8	100286533	Frame_Shift_Del	DEL	T	TCGA-JY-A93D-01A-11D-A387-09	4895944	100286533	46077489	134	10683	40	2									
VPS13B	157680	genome.wustl.edu	37	chr8	100286534	100286534	+	Nonsense_Mutation	SNP	C	C	A																															tgcctctgggaccatgggatCaataaaaatttgtgccaaag																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:100286534C>A	ENST00000358544.2	+	18	2735	c.2624C>A	c.(2623-2625)tCa>tAa	p.S875*	VPS13B_ENST00000395996.1_Nonsense_Mutation_p.S875*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.S875*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	875					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCATGGGATCAATAAAAATT	0.453																																					Colon(161;2205 2542 7338 31318)												0													95	100	98					8																	100286534		2203	4300	6503	SO:0001587	stop_gained	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2624C>A	8.37:g.100286534C>A	ENSP00000351346:p.Ser875*		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.S875*	ENST00000358544.2	37	c.2624	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	42	9.815087	0.99271	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	.	.	.	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0822	0.97779	0.0:1.0:0.0:0.0	.	.	.	.	X	875	.	ENSP00000349685:S875X	S	+	2	0	VPS13B	100355710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.421000	0.80204	2.826000	0.97356	0.563000	0.77884	TCA	VPS13B	-	NULL	ENSG00000132549		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	86	0	C	NM_184042		100286534	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	nonsense	20.00	80	20	SNP	1.000	A	A	100286534	C	A	100286534	4	1	44	1	0	0	0	0	0	1	0	0	17239	838	29	3	2813	3	VPS13B	8	100286534	Nonsense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1	100286534	46077488	135	10684	40	2									
SLC30A8	169026	genome.wustl.edu	37	chr8	118169955	118169955	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggtgccctgctctccatCctgtgcatctgggtggtgac	3	13	12	13	0	2	1	0	1	2	0	4	1	3	1	3	3	3	2	3	3	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:118169955C>A	ENST00000456015.2	+	4	444	c.444C>A	c.(442-444)atC>atA	p.I148I	SLC30A8_ENST00000521243.1_Silent_p.I99I|SLC30A8_ENST00000427715.2_Silent_p.I99I|SLC30A8_ENST00000519688.1_Silent_p.I99I	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	148					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTCTCCATCCTGTGCATCT	0.512																																					Ovarian(162;1202 1922 6011 16223 52092)												0													315	285	295					8																	118169955		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.444C>A	8.37:g.118169955C>A			A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.I148	ENST00000456015.2	37	c.444	CCDS6322.1	8																																																																																			SLC30A8	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000164756		0.512	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1	-	0	85	0	C	NM_173851		118169955	1	tier1	-	no_errors	ENST00000456015	ensembl	human	known	74_37	silent	20.90	53	14	SNP	0.892	A	A	118169955	C	A	118169955	2	1	44	1	0	0	0	0	0	0	0	1	14606	845	30	3		3	SLC30A8	8	118169955	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	17883421	118169955	28194067	136	10685											
KLHL38	340359	genome.wustl.edu	37	chr8	124663967	124663967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtcatacctttccatGgagcccatgagctcctgccc	7	11	8	15	0	1	1	1	1	0	0	3	2	3	2	5	1	5	2	5	1	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr8:124663967G>A	ENST00000325995.7	-	1	1223	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	400										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ACCTTTCCATGGAGCCCATGA	0.577																																																	0													68	67	67					8																	124663967		2024	4182	6206	SO:0001819	synonymous_variant	0				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1200C>T	8.37:g.124663967G>A			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S400	ENST00000325995.7	37	c.1200	CCDS43766.1	8																																																																																			KLHL38	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.577	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1		0	24	0	G			124663967	-1			no_errors	ENST00000325995	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.986	A	A	124663967	G	A	124663967	2	1	44	1	0	0	0	0	0	0	0	1	8417	1335	47	3		3	KLHL38	8	124663967	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	6494012	124663967	21700055	137	10686											
UHRF2	115426	genome.wustl.edu	37	chr9	6420988	6420988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctagttcgcccagaccCtgatcatcttcctggcacat	7	11	8	15	1	2	2	1	1	1	1	4	2	3	2	3	1	1	4	3	1	1	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:6420988C>A	ENST00000276893.5	+	2	398	c.230C>A	c.(229-231)cCt>cAt	p.P77H	RP11-307L3.4_ENST00000411561.1_RNA|UHRF2_ENST00000381373.3_Missense_Mutation_p.P77H	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	77	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P77R(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CGCCCAGACCCTGATCATCTT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											139	129	133					9																	6420988		2203	4300	6503	SO:0001583	missense	0			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	12557	protein-coding gene	gene with protein product	"Np95-like ring finger protein"	615211	"ubiquitin-like with PHD and ring finger domains 2"			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.230C>A	9.37:g.6420988C>A	ENSP00000276893:p.Pro77His		Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.P77H	ENST00000276893.5	37	c.230	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710486	0.68730	.	.	ENSG00000147854	ENST00000276893;ENST00000381373	T;T	0.44083	0.93;0.93	5.55	4.66	0.58398	.	0.325583	0.34338	N	0.004059	T	0.47135	0.1429	M	0.61703	1.905	0.31128	N	0.708032	B	0.33073	0.396	B	0.39068	0.289	T	0.58493	-0.7627	10	0.66056	D	0.02	-0.4419	14.6268	0.68626	0.0:0.9298:0.0:0.0702	.	77	Q96PU4	UHRF2_HUMAN	H	77	ENSP00000276893:P77H;ENSP00000370778:P77H	ENSP00000276893:P77H	P	+	2	0	UHRF2	6410988	0.998000	0.40836	0.990000	0.47175	0.980000	0.70556	4.998000	0.63927	1.345000	0.45676	-0.444000	0.05651	CCT	UHRF2	-	NULL	ENSG00000147854		0.398	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3		0	34	0	C	NM_152306		6420988	1			no_errors	ENST00000276893	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.998	A	A	6420988	C	A	6420988	3	1	44	1	0	0	0	0	1	0	0	0	17019	681	24	3	236	3	UHRF2	9	6420988	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09		6420988	134792443	138	10687											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971025	21971026	+	Frame_Shift_Del	DEL	GC	GC	-																															gccaggtccacgggcagacgGccccaggcatcgcgcacgtc																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:21971025_21971026delGC	ENST00000304494.5	-	2	602_603	c.332_333delGC	c.(331-333)ggcfs	p.G111fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.G111fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.G60fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.G60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.G111fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.P126fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.G60fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P167fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.G60fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.G60fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.G111fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P126fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	111					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.G111G(3)|p.H83fs*2(2)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.P167S(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGACGGCCCCAGGCATC	0.738		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1371	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(148)|urinary_tract(92)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(50)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)																																								SO:0001589	frameshift_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.332_333delGC	9.37:g.21971025_21971026delGC	ENSP00000307101:p.Gly111fs		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	pfam_Cyclin_kinase-Inhib_2A	p.P167fs	ENST00000304494.5	37	c.499_498	CCDS6510.1	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.738	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	62	0	GC	NM_000077		21971026	-1	tier1		no_errors	ENST00000361570	ensembl	human	known	74_37	frame_shift_del	47.06	18	16	DEL	0.998:1.000	-	-	21971026	GC	-	21971025	7	5	44	1	0	1	0	1	0	0	0	0	3168	1203	42	0	145	0	CDKN2A	9	21971025	Frame_Shift_Del	DEL	GC	TCGA-JY-A93D-01A-11D-A387-09	15550037	21971025	119242406	139	10688											
PRKACG	5568	genome.wustl.edu	37	chr9	71628850	71628850	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcacccgcccgaaggaGcccatgcccagcgtcctgag	9	4	11	17	3	1	1	1	1	0	0	2	3	2	2	5	1	4	1	5	1	1	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:71628850G>T	ENST00000377276.2	-	1	189	c.159C>A	c.(157-159)ggC>ggA	p.G53G		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	53	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCGAAGGAGCCCATGCCCA	0.592																																					Esophageal Squamous(110;2236 2623 32146)												0													109	100	103					9																	71628850		2203	4300	6503	SO:0001819	synonymous_variant	0			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.159C>A	9.37:g.71628850G>T			O60850|Q5VZ02|Q86YI1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G53	ENST00000377276.2	37	c.159	CCDS6625.1	9																																																																																			PRKACG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000165059		0.592	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	HGNC	protein_coding	OTTHUMT00000052559.1	-	0	58	0	G			71628850	-1	tier1	-	no_errors	ENST00000377276	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.974	T	T	71628850	G	T	71628850	2	4	44	1	0	0	0	0	0	0	0	1	12541	958	34	3		3	PRKACG	9	71628850	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	49657825	71628850	69584581	140	10689											
PSAT1	29968	genome.wustl.edu	37	chr9	80921272	80921272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaacctcaacccagatgcctCctacgtgtattattgcgcaa	11	10	7	13	2	1	1	1	0	0	1	2	2	2	1	4	0	5	2	4	0	6	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:80921272C>G	ENST00000376588.3	+	5	508	c.440C>G	c.(439-441)tCc>tGc	p.S147C	PSAT1_ENST00000347159.2_Missense_Mutation_p.S147C	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	147					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						CCAGATGCCTCCTACGTGTAT	0.448																																					Colon(34;187 791 10662 18313 37609)												0													280	261	267					9																	80921272		2203	4300	6503	SO:0001583	missense	0			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.440C>G	9.37:g.80921272C>G	ENSP00000365773:p.Ser147Cys		Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	p.S147C	ENST00000376588.3	37	c.440	CCDS6660.1	9	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379362	0.82682	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	D;D	0.87179	-2.22;-2.22	5.85	5.85	0.93711	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	D	0.94245	0.7488	10	0.72032	D	0.01	-16.709	20.1634	0.98142	0.0:1.0:0.0:0.0	.	147;147	Q9Y617-2;Q9Y617	.;SERC_HUMAN	C	147	ENSP00000317606:S147C;ENSP00000365773:S147C	ENSP00000317606:S147C	S	+	2	0	PSAT1	80111092	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.487000	0.81328	2.773000	0.95371	0.655000	0.94253	TCC	PSAT1	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	ENSG00000135069		0.448	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSAT1	HGNC	protein_coding	OTTHUMT00000052777.1	-	0	59	0	C	NM_021154		80921272	1	tier1	-	no_errors	ENST00000376588	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	G	G	80921272	C	G	80921272	3	3	44	1	0	0	0	0	1	0	0	0	12686	855	30	5	458	5	PSAT1	9	80921272	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	9292422	80921272	60292159	141	10690											
ROR2	4920	genome.wustl.edu	37	chr9	94486191	94486191	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccactgccactgtggTgtgagctgggcttggggacc	5	9	17	10	0	0	1	0	1	0	0	0	3	0	3	3	5	3	2	3	5	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:94486191T>A	ENST00000375708.3	-	9	2783	c.2585A>T	c.(2584-2586)cAc>cTc	p.H862L	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	862	Ser/Thr-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCACTGTGGTGTGAGCTGGG	0.642																																																	0													93	92	92					9																	94486191		2203	4300	6503	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2585A>T	9.37:g.94486191T>A	ENSP00000364860:p.His862Leu		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H862L	ENST00000375708.3	37	c.2585	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283215	0.40394	.	.	ENSG00000169071	ENST00000375708	T	0.76709	-1.04	4.73	3.6	0.41247	.	0.000000	0.44483	D	0.000456	T	0.55242	0.1908	N	0.24115	0.695	0.53688	D	0.999975	P	0.44734	0.842	B	0.27887	0.084	T	0.53251	-0.8465	10	0.28530	T	0.3	.	10.1344	0.42697	0.0:0.0784:0.0:0.9216	.	862	Q01974	ROR2_HUMAN	L	862	ENSP00000364860:H862L	ENSP00000364860:H862L	H	-	2	0	ROR2	93526012	1.000000	0.71417	0.989000	0.46669	0.535000	0.34838	4.597000	0.61062	0.849000	0.35215	0.379000	0.24179	CAC	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR	ENSG00000169071		0.642	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0	70	0	T			94486191	-1	tier1	-	no_errors	ENST00000375708	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	94486191	T	A	94486191	3	1	44	1	0	0	0	0	1	0	0	0	13572	1696	59	5	250	5	ROR2	9	94486191	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	13564919	94486191	46727240	142	10691											
CORO2A	7464	genome.wustl.edu	37	chr9	100887124	100887124	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttggcctggacctctcGctgggtcaacagctcccgga	5	10	12	14	2	2	0	1	0	1	0	4	2	3	2	3	4	2	3	3	4	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:100887124G>A	ENST00000343933.5	-	12	1767	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	CORO2A_ENST00000375077.4_Nonsense_Mutation_p.R504*	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	504					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGACCTCTCGCTGGGTCAAC	0.572																																																	0													76	65	69					9																	100887124		2203	4300	6503	SO:0001587	stop_gained	0			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1510C>T	9.37:g.100887124G>A	ENSP00000343746:p.Arg504*		Q5TBR5|Q92829|Q9BWS5	Nonsense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R504*	ENST00000343933.5	37	c.1510	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.456900	0.97581	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	.	.	.	5.6	2.31	0.28768	.	0.100945	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9132	13.6111	0.62078	0.0:0.0:0.4387:0.5613	.	.	.	.	X	504	.	ENSP00000343746:R504X	R	-	1	2	CORO2A	99926945	0.929000	0.31497	1.000000	0.80357	0.996000	0.88848	1.213000	0.32407	0.645000	0.30675	-0.274000	0.10170	CGA	CORO2A	-	NULL	ENSG00000106789		0.572	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	-	0	49	0	G	NM_003389		100887124	-1	tier1	-	no_errors	ENST00000343933	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	A	A	100887124	G	A	100887124	4	1	44	1	0	0	0	0	0	1	0	0	3763	1095	38	1	71	1	CORO2A	9	100887124	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	6400933	100887124	40326307	143	10692											
GSN	2934	genome.wustl.edu	37	chr9	124064311	124064311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcctgcagatctggcGtgtggagaagttcgatctgg	6	10	16	9	2	2	2	0	0	2	2	3	4	2	2	2	4	1	2	2	4	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:124064311G>T	ENST00000373818.4	+	2	284	c.215G>T	c.(214-216)cGt>cTt	p.R72L	GSN_ENST00000394353.2_Missense_Mutation_p.R32L|GSN_ENST00000341272.2_Missense_Mutation_p.R21L|GSN_ENST00000545652.1_Missense_Mutation_p.R29L|GSN_ENST00000412819.1_Missense_Mutation_p.R21L|GSN_ENST00000373808.2_Missense_Mutation_p.R21L|GSN_ENST00000373823.3_Missense_Mutation_p.R21L|GSN_ENST00000449733.1_Missense_Mutation_p.R21L|GSN_ENST00000436847.1_Missense_Mutation_p.R32L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	72	Actin-severing. {ECO:0000255}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CAGATCTGGCGTGTGGAGAAG	0.597																																																	0													151	136	141					9																	124064311		2203	4300	6503	SO:0001583	missense	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.215G>T	9.37:g.124064311G>T	ENSP00000362924:p.Arg72Leu		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.R72L	ENST00000373818.4	37	c.215	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.422979	0.96111	.	.	ENSG00000148180	ENST00000373823;ENST00000432226;ENST00000449773;ENST00000436847;ENST00000394353;ENST00000449733;ENST00000412819;ENST00000341272;ENST00000373808;ENST00000394352;ENST00000456109;ENST00000545652;ENST00000373818	T;T;T;T;T;T;T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1;2.1	5.24	5.24	0.73138	.	0.086425	0.85682	D	0.000000	T	0.43122	0.1233	L	0.52126	1.63	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.31752	-0.9932	10	0.87932	D	0	-8.8849	17.8184	0.88642	0.0:0.0:1.0:0.0	.	45;29;32;72	B7Z9A0;F5H1A8;B7Z373;P06396	.;.;.;GELS_HUMAN	L	21;21;32;32;32;21;21;21;21;21;21;29;72	ENSP00000362929:R21L;ENSP00000404226:R21L;ENSP00000410657:R32L;ENSP00000411293:R32L;ENSP00000377882:R32L;ENSP00000409358:R21L;ENSP00000416586:R21L;ENSP00000340888:R21L;ENSP00000362914:R21L;ENSP00000445823:R29L;ENSP00000362924:R72L	ENSP00000340888:R21L	R	+	2	0	GSN	123104132	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.802000	0.99131	2.424000	0.82194	0.557000	0.71058	CGT	GSN	-	smart_Villin/Gelsolin	ENSG00000148180		0.597	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	-	0	61	0	G	NM_000177		124064311	1	tier1	-	no_errors	ENST00000373818	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	124064311	G	T	124064311	3	4	44	1	0	0	0	0	1	0	0	0	6852	1145	40	2	249	2	GSN	9	124064311	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	23177187	124064311	17149120	144	10693											
DAB2IP	153090	genome.wustl.edu	37	chr9	124535156	124535156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctcagctggtggcCgggtggccggcccgggcaac	4	5	18	14	3	1	0	1	0	0	0	1	0	1	0	3	6	4	5	3	6	1	0	rs377593194		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:124535156C>T	ENST00000408936.3	+	12	2531	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	DAB2IP_ENST00000259371.2_Silent_p.A755A|DAB2IP_ENST00000309989.1_Silent_p.A659A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	783	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCTGGTGGCCGGGTGGCCGG	0.756																																																	0								C	,	1,4183		0,1,2091	7	9	9		2265,1977	-5.6	1	9		9	2,8182		0,2,4090	no	coding-synonymous,coding-synonymous	DAB2IP	NM_032552.2,NM_138709.1	,	0,3,6181	TT,TC,CC		0.0244,0.0239,0.0243	,	755/1133,659/1066	124535156	3,12365	2092	4092	6184	SO:0001819	synonymous_variant	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2349C>T	9.37:g.124535156C>T			A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Silent	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.A783	ENST00000408936.3	37	c.2349		9																																																																																			DAB2IP	-	pfam_DUF3498	ENSG00000136848		0.756	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0	28	0	C	NM_032552		124535156	1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.063	T	T	124535156	C	T	124535156	2	4	44	1	0	0	0	0	0	0	0	1	4228	639	23	1		1	DAB2IP	9	124535156	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	470845	124535156	16678275	145	10694											
TBC1D13	54662	genome.wustl.edu	37	chr9	131553894	131553894	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtatgcccagttcctGagggaaatgatcatccagcc	10	9	11	11	0	1	2	1	2	0	0	3	4	3	3	4	1	3	3	4	1	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:131553894G>T	ENST00000372648.5	+	5	372	c.222G>T	c.(220-222)ctG>ctT	p.L74L	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Silent_p.L74L|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	74	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCCAGTTCCTGAGGGAAATGA	0.577																																																	0													96	85	88					9																	131553894		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.222G>T	9.37:g.131553894G>T			A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L74	ENST00000372648.5	37	c.222	CCDS6911.1	9																																																																																			TBC1D13	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000107021		0.577	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D13	HGNC	protein_coding	OTTHUMT00000054496.1		0	32	0	G	NM_018201		131553894	1			no_errors	ENST00000372648	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	131553894	G	T	131553894	2	4	44	1	0	0	0	0	0	0	0	1	15649	1277	45	3		3	TBC1D13	9	131553894	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	7018738	131553894	9659537	146	10695											
LCN9	392399	genome.wustl.edu	37	chr9	138555211	138555211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggctgagcctcatcgcagCccaggagttcgatccccaca	8	6	12	15	2	1	1	1	1	0	0	4	3	2	2	4	3	2	3	4	3	0	1	rs560303340		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:138555211C>T	ENST00000277526.3	+	1	44	c.44C>T	c.(43-45)gCc>gTc	p.A15V	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	15						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CTCATCGCAGCCCAGGAGTTC	0.637													C|||	1	0.000199681	0	0	5008	,	,		19104	0.001		0	False		,,,				2504	0																0													76	83	81					9																	138555211		2077	4210	6287	SO:0001583	missense	0			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.44C>T	9.37:g.138555211C>T	ENSP00000277526:p.Ala15Val		C9J5F0|Q6JVE7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin	p.A15V	ENST00000277526.3	37	c.44	CCDS56593.1	9	.	.	.	.	.	.	.	.	.	.	c	14.50	2.554972	0.45487	.	.	ENSG00000148386	ENST00000277526	T	0.19669	2.13	2.56	1.63	0.23807	.	1.426080	0.05062	N	0.480019	T	0.28101	0.0693	L	0.55834	1.745	0.21105	N	0.999781	P	0.51057	0.941	P	0.46917	0.531	T	0.27571	-1.0070	10	0.51188	T	0.08	-29.3266	8.6329	0.33930	0.2305:0.7695:0.0:0.0	.	15	Q8WX39	LCN9_HUMAN	V	15	ENSP00000277526:A15V	ENSP00000277526:A15V	A	+	2	0	LCN9	137695032	0.156000	0.22821	0.077000	0.20336	0.002000	0.02628	0.516000	0.22817	0.644000	0.30656	-0.535000	0.04281	GCC	LCN9	-	NULL	ENSG00000148386		0.637	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN9	HGNC	protein_coding	OTTHUMT00000410711.1		0	78	0	C	NM_001001676		138555211	1			no_errors	ENST00000277526	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.544	T	T	138555211	C	T	138555211	3	4	44	1	0	0	0	0	1	0	0	0	8715	739	26	3	46	3	LCN9	9	138555211	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	7001317	138555211	2658220	147	10696											
MAMDC4	158056	genome.wustl.edu	37	chr9	139750588	139750588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcttattatttacaGagccagccccgaggtaccgc	9	9	9	14	2	0	1	0	0	0	1	0	2	0	1	5	2	4	2	5	2	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:139750588G>T	ENST00000317446.2	+	14	1757	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	MAMDC4_ENST00000445819.1_Missense_Mutation_p.Q569H|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATTATTTACAGAGCCAGCCCC	0.677																																																	0													51	60	57					9																	139750588		2203	4297	6500	SO:0001583	missense	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1707G>T	9.37:g.139750588G>T	ENSP00000319388:p.Gln569His			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.Q569H	ENST00000317446.2	37	c.1707	CCDS7010.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.014|0.014	-1.581801|-1.581801	0.00879|0.00879	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.01981	.|4.52;4.52	4.97|4.97	-0.472|-0.472	0.12115|0.12115	.|.	.|0.680110	.|0.13423	.|N	.|0.389007	.|T	.|0.01222	.|0.0040	N|N	0.12569|0.12569	0.235|0.235	0.09310|0.09310	N|N	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.09377	.|0.004	.|T	.|0.46843	.|-0.9162	.|10	.|0.39692	.|T	.|0.17	-3.026|-3.026	1.3349|1.3349	0.02142|0.02142	0.1527:0.2751:0.2499:0.3224|0.1527:0.2751:0.2499:0.3224	.|.	.|569	.|Q6UXC1-2	.|.	X|H	555|569	.|ENSP00000319388:Q569H;ENSP00000411339:Q569H	.|ENSP00000319388:Q569H	E|Q	+|+	1|3	0|2	MAMDC4|MAMDC4	138870409|138870409	0.045000|0.045000	0.20229|0.20229	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	-0.224000|-0.224000	0.09164|0.09164	-0.311000|-0.311000	0.08754|0.08754	-0.215000|-0.215000	0.12644|0.12644	GAG|CAG	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.677	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3		0	59	0	G	NM_206920		139750588	1			no_errors	ENST00000445819	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.001	T	T	139750588	G	T	139750588	3	4	44	1	0	0	0	0	1	0	0	0	9242	933	33	3	1761	3	MAMDC4	9	139750588	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1195377	139750588	1462843	148	10697											
ABCA2	20	genome.wustl.edu	37	chr9	139906125	139906125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggacggcagggaagttgGtgggcgacgtgtaggccggc	8	5	21	7	4	0	1	0	0	0	1	0	4	0	3	1	7	0	3	1	7	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr9:139906125G>A	ENST00000371605.3	-	35	5756	c.5609C>T	c.(5608-5610)aCc>aTc	p.T1870I	ABCA2_ENST00000341511.6_Missense_Mutation_p.T1871I|ABCA2_ENST00000265662.5_Missense_Mutation_p.T1871I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1870					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGGGAAGTTGGTGGGCGACGT	0.657																																																	0													31	37	35					9																	139906125		2026	4132	6158	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5609C>T	9.37:g.139906125G>A	ENSP00000360666:p.Thr1870Ile		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1871I	ENST00000371605.3	37	c.5612		9	.	.	.	.	.	.	.	.	.	.	g	15.42	2.829374	0.50845	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.82526	-1.62;-1.62;-1.62	4.03	4.03	0.46877	.	0.124071	0.53938	U	0.000060	D	0.88284	0.6395	L	0.58810	1.83	0.45930	D	0.998763	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88851	0.3319	10	0.62326	D	0.03	.	12.3845	0.55325	0.0:0.0:0.8309:0.1691	.	1870;1901	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	I	1871;1870;1901;1871	ENSP00000265662:T1871I;ENSP00000360666:T1870I;ENSP00000344155:T1871I	ENSP00000265662:T1871I	T	-	2	0	ABCA2	139025946	1.000000	0.71417	0.998000	0.56505	0.472000	0.32918	3.560000	0.53763	2.073000	0.62155	0.298000	0.19748	ACC	ABCA2	-	NULL	ENSG00000107331		0.657	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	116	0	G	NM_001606		139906125	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	36.27	65	37	SNP	1.000	A	A	139906125	G	A	139906125	3	1	44	1	0	0	0	0	1	0	0	0	32	1261	44	3	1754	3	ABCA2	9	139906125	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	155537	139906125	1307306	149	10698											
SFMBT2	57713	genome.wustl.edu	37	chr10	7326106	7326106	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctatagggcctttccctcGcagaggctgtttaaacagaa	10	11	10	10	1	1	2	0	0	1	2	3	2	2	2	2	2	1	3	2	2	5	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:7326106G>T	ENST00000361972.4	-	6	622	c.532C>A	c.(532-534)Cga>Aga	p.R178R	SFMBT2_ENST00000397167.1_Silent_p.R178R	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	178					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.R178*(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTTTCCCTCGCAGAGGCTGT	0.368																																																	2	Substitution - Nonsense(2)	skin(2)											63	63	63					10																	7326106		2202	4298	6500	SO:0001819	synonymous_variant	0			AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"Sterile alpha motif (SAM) domain containing"	20256	protein-coding gene	gene with protein product		615392	"Scm-related gene containing four mbt domains 2"			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.532C>A	10.37:g.7326106G>T			A7MD09|Q9HCF5	Silent	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.R178	ENST00000361972.4	37	c.532	CCDS31138.1	10																																																																																			SFMBT2	-	smart_Mbt,pfscan_Mbt	ENSG00000198879		0.368	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	HGNC	protein_coding	OTTHUMT00000046673.1		0	42	0	G	NM_001029880		7326106	-1			no_errors	ENST00000361972	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	7326106	G	T	7326106	2	4	44	1	0	0	0	0	0	0	0	1	14203	1095	38	2		2	SFMBT2	10	7326106	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		7326106	128208641	150	10699											
BEND7	222389	genome.wustl.edu	37	chr10	13481306	13481306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggtgcttgaagtcttGgctggtttgggacaaagctc	8	13	14	6	0	1	2	0	2	1	0	2	3	1	3	0	4	2	4	0	4	3	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:13481306G>T	ENST00000396900.2	-	9	1425	c.1426C>A	c.(1426-1428)Caa>Aaa	p.Q476K	BEND7_ENST00000341083.3_Missense_Mutation_p.Q425K|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	476						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTGAAGTCTTGGCTGGTTTGG	0.517																																																	0													268	243	251					10																	13481306		2203	4300	6503	SO:0001583	missense	0			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1426C>A	10.37:g.13481306G>T	ENSP00000380108:p.Gln476Lys		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.Q476K	ENST00000396900.2	37	c.1426		10	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366236	0.24684	.	.	ENSG00000165626	ENST00000396900;ENST00000341083	T;T	0.46451	0.88;0.87	2.32	2.32	0.28847	.	.	.	.	.	T	0.23532	0.0569	N	0.08118	0	0.21861	N	0.999505	B	0.23490	0.086	B	0.24848	0.056	T	0.20174	-1.0283	9	0.87932	D	0	.	8.2379	0.31638	0.0:0.0:1.0:0.0	.	425	Q8N7W2-3	.	K	476;425	ENSP00000380108:Q476K;ENSP00000345773:Q425K	ENSP00000345773:Q425K	Q	-	1	0	BEND7	13521312	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.247000	0.08866	1.634000	0.50500	0.655000	0.94253	CAA	BEND7	-	NULL	ENSG00000165626		0.517	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding			0	68	0	G	NM_152751		13481306	-1			no_errors	ENST00000396900	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.005	T	T	13481306	G	T	13481306	3	4	44	1	0	0	0	0	1	0	0	0	1404	1357	47	3	137	3	BEND7	10	13481306	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	6155200	13481306	122053441	151	10700											
MRC1	4360	genome.wustl.edu	37	chr10	18145181	18145181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcaggatgggtactGggcagatcggggctgtgagt	6	9	17	9	1	0	2	0	1	0	1	2	3	1	3	1	5	2	4	1	5	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:18145181G>T	ENST00000239761.3	+	9	1521	c.1418G>T	c.(1417-1419)tGg>tTg	p.W473L		NM_002438.2	NP_002429.1	P22897	MRC1_HUMAN	mannose receptor, C type 1	473	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	mannose binding (GO:0005537)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GATGGGTACTGGGCAGATCGG	0.443																																					GBM(115;1153 1594 28187 28781 35884)												0													14	12	13					10																	18145181		1512	2156	3668	SO:0001583	missense	0			J05550	CCDS7123.1, CCDS7123.2	10p13	2014-04-10			ENSG00000120586	ENSG00000260314		"CD molecules", "C-type lectin domain containing"	7228	protein-coding gene	gene with protein product		153618	"mannose receptor, C type 1-like 1"	MRC1L1		1294118	Standard	NM_002438		Approved	CLEC13D, CD206, bA541I19.1, CLEC13DL	uc031ptj.1	P22897	OTTHUMG00000174646	ENST00000239761.3:c.1418G>T	10.37:g.18145181G>T	ENSP00000239761:p.Trp473Leu		A5PKW3|Q5VSJ2|Q5VSK2	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.W473L	ENST00000239761.3	37	c.1418	CCDS7123.1	10	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831782	0.71258	.	.	ENSG00000120586	ENST00000239761	T	0.26067	1.76	4.58	4.58	0.56647	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.51477	U	0.000093	T	0.63189	0.2490	H	0.95043	3.615	0.58432	D	0.999998	D	0.89917	1.0	D	0.81914	0.995	T	0.76613	-0.2895	10	0.87932	D	0	-36.7873	15.5269	0.75919	0.0:0.0:1.0:0.0	.	473	P22897	MRC1_HUMAN	L	473	ENSP00000239761:W473L	ENSP00000239761:W473L	W	+	2	0	MRC1	18185187	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.282000	0.72639	2.083000	0.62718	0.505000	0.49811	TGG	MRC1	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000120586		0.443	MRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC1	HGNC	protein_coding	OTTHUMT00000047057.1	-	0	25	0	G	NM_002438		18145181	1	tier1	-	no_errors	ENST00000239761	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T	T	18145181	G	T	18145181	3	4	44	1	0	0	0	0	1	0	0	0	9794	1357	47	3	5943	3	MRC1	10	18145181	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	4663875	18145181	117389566	152	10701											
CACNB2	783	genome.wustl.edu	37	chr10	18690939	18690939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcgcagagaagcggaGcggcaggcccaggcacagtt	10	3	17	11	3	0	1	0	0	0	1	0	3	0	2	1	4	3	5	1	4	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:18690939G>T	ENST00000324631.7	+	3	360	c.300G>T	c.(298-300)gaG>gaT	p.E100D	CACNB2_ENST00000377319.3_Missense_Mutation_p.E45D|CACNB2_ENST00000377331.2_Missense_Mutation_p.E72D|CACNB2_ENST00000352115.6_Missense_Mutation_p.E100D|CACNB2_ENST00000377328.1_Missense_Mutation_p.E100D|CACNB2_ENST00000377329.4_Missense_Mutation_p.E46D|CACNB2_ENST00000396576.2_Missense_Mutation_p.E45D|CACNB2_ENST00000377315.4_Missense_Mutation_p.E52D|CACNB2_ENST00000282343.8_Missense_Mutation_p.E72D	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	100				ER -> Q (in Ref. 5; AAD33729). {ECO:0000305}.	axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.E45E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGAAGCGGAGCGGCAGGCCC	0.557																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											72	61	65					10																	18690939		2203	4300	6503	SO:0001583	missense	0			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.300G>T	10.37:g.18690939G>T	ENSP00000320025:p.Glu100Asp		A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.E100D	ENST00000324631.7	37	c.300	CCDS7125.1	10	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856605	0.51376	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.87	4.04	0.47022	Src homology-3 domain (1);	0.136026	0.64402	D	0.000003	D	0.88239	0.6383	M	0.64997	1.995	0.58432	D	0.999999	D;D;P;P;P;B;P;D;P;D;D;D;D;D;D;D	0.89917	0.999;0.992;0.948;0.884;0.948;0.026;0.948;1.0;0.935;0.998;0.997;0.999;0.972;0.997;0.998;0.978	D;D;D;D;D;B;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.987;0.987;0.942;0.987;0.015;0.983;0.999;0.977;0.996;0.99;0.998;0.983;0.991;0.997;0.99	D	0.87261	0.2279	10	0.52906	T	0.07	-12.2252	10.2483	0.43354	0.2017:0.0:0.7983:0.0	.	52;52;46;46;72;100;52;46;46;56;45;72;72;100;100;100	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	D	100;100;100;72;72;45;45;46;52	ENSP00000320025:E100D;ENSP00000344474:E100D;ENSP00000366545:E100D;ENSP00000282343:E72D;ENSP00000366548:E72D;ENSP00000379821:E45D;ENSP00000366536:E45D;ENSP00000366546:E46D;ENSP00000366532:E52D	ENSP00000282343:E72D	E	+	3	2	CACNB2	18730945	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.897000	0.48664	0.953000	0.37825	0.655000	0.94253	GAG	CACNB2	-	pfam_VDCC_L_bsu,superfamily_SH3_domain	ENSG00000165995		0.557	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2		0	46	0	G	NM_000724		18690939	1			no_errors	ENST00000324631	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	18690939	G	T	18690939	3	4	44	1	0	0	0	0	1	0	0	0	2560	962	34	3	530	3	CACNB2	10	18690939	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	545758	18690939	116843808	153	10702											
BAMBI	25805	genome.wustl.edu	37	chr10	28971125	28971125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcaacagatgctctcccGtttgcactacagctttcacg	8	10	9	14	3	2	1	1	0	1	1	3	1	2	1	1	1	5	5	1	1	2	3	rs575182425		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:28971125G>A	ENST00000375533.3	+	3	1134	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	193					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						ATGCTCTCCCGTTTGCACTAC	0.507													G|||	1	0.000199681	0	0.0014	5008	,	,		20174	0		0	False		,,,				2504	0																0													115	102	107					10																	28971125		2203	4300	6503	SO:0001583	missense	0			U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.578G>A	10.37:g.28971125G>A	ENSP00000364683:p.Arg193His			Missense_Mutation	SNP	pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib	p.R193H	ENST00000375533.3	37	c.578	CCDS7162.1	10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.964119	0.92791	.	.	ENSG00000095739	ENST00000375533;ENST00000542444	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76200	-0.3046	9	0.66056	D	0.02	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	193	Q13145	BAMBI_HUMAN	H	193;180	.	ENSP00000364683:R193H	R	+	2	0	BAMBI	29011131	1.000000	0.71417	0.836000	0.33094	0.999000	0.98932	9.804000	0.99143	2.894000	0.99253	0.655000	0.94253	CGT	BAMBI	-	pirsf_BMP/activin_membr-bound_inhib	ENSG00000095739		0.507	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAMBI	HGNC	protein_coding	OTTHUMT00000047374.1	-	0	62	0	G	NM_012342		28971125	1	tier1	-	no_errors	ENST00000375533	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	A	A	28971125	G	A	28971125	3	1	44	1	0	0	0	0	1	0	0	0	1307	1145	40	1	588	1	BAMBI	10	28971125	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	10280186	28971125	106563622	154	10703											
PCDH15	65217	genome.wustl.edu	37	chr10	55582052	55582052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaggagttggaaatggagGtagaagaggtggtgttgggg	12	8	21	0	0	0	3	0	0	0	3	0	6	0	6	0	8	0	3	0	8	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:55582052G>A	ENST00000320301.6	-	33	5828	c.5434C>T	c.(5434-5436)Cct>Tct	p.P1812S	PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1814S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1789S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1809S|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1772S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1743S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1812					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ggaaatggaggtagaagaggt	0.507										HNSCC(58;0.16)																																							0													80	69	72					10																	55582052		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5434C>T	10.37:g.55582052G>A	ENSP00000322604:p.Pro1812Ser		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1812S	ENST00000320301.6	37	c.5434	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999365	0.35226	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.62788	0.04;0.0;0.06;0.19;0.19;0.16	4.31	2.43	0.29744	.	.	.	.	.	T	0.39809	0.1092	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.15719	0.003;0.003;0.003;0.003;0.014;0.003;0.003;0.003	B;B;B;B;B;B;B;B	0.10450	0.005;0.005;0.005;0.005;0.005;0.005;0.005;0.005	T	0.22277	-1.0221	9	0.38643	T	0.18	.	3.8924	0.09125	0.2833:0.0:0.5469:0.1698	.	1789;1812;1814;1819;1743;1772;1809;1812	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	S	1772;1814;1789;1812;1809;1819;1743	ENSP00000378820:P1772S;ENSP00000354950:P1814S;ENSP00000378821:P1789S;ENSP00000322604:P1812S;ENSP00000378818:P1809S;ENSP00000412628:P1743S	ENSP00000322604:P1812S	P	-	1	0	PCDH15	55252058	0.110000	0.22057	0.002000	0.10522	0.109000	0.19521	1.035000	0.30216	0.539000	0.28788	0.655000	0.94253	CCT	PCDH15	-	NULL	ENSG00000150275		0.507	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0	27	0	G	NM_033056		55582052	-1			no_errors	ENST00000320301	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.060	A	A	55582052	G	A	55582052	3	1	44	1	0	0	0	0	1	0	0	0	11550	1261	44	3	2043	3	PCDH15	10	55582052	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	26610927	55582052	79952695	155	10704											
SORBS1	10580	genome.wustl.edu	37	chr10	97194450	97194450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaacagcagaaatagagCgtgcgcgtaaagggtcggca	13	8	13	7	4	0	2	0	0	0	2	1	2	0	2	0	2	4	3	0	2	5	4	rs139115529		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:97194450C>T	ENST00000361941.3	-	3	127	c.101G>A	c.(100-102)cGc>cAc	p.R34H	SORBS1_ENST00000393949.1_Missense_Mutation_p.R34H|SORBS1_ENST00000354106.3_Missense_Mutation_p.R34H|SORBS1_ENST00000306402.6_Missense_Mutation_p.R34H|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R34H|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.R34H|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.R34H|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000347291.4_Missense_Mutation_p.R34H|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R34H|SORBS1_ENST00000371227.4_Missense_Mutation_p.R34H|SORBS1_ENST00000353505.5_Missense_Mutation_p.R34H	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGAAATAGAGCGTGCGCGTAA	0.473																																																	0													94	94	94					10																	97194450		2203	4300	6503	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.101G>A	10.37:g.97194450C>T	ENSP00000355136:p.Arg34His			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R34H	ENST00000361941.3	37	c.101	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689918	0.88735	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T;T	0.23348	2.4;2.1;2.22;2.0;2.54;1.98;2.4;1.91;2.22;2.54;1.98	5.82	5.82	0.92795	.	0.000000	0.42964	D	0.000639	T	0.40570	0.1122	N	0.24115	0.695	0.25844	N	0.984029	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D	0.83275	0.996;0.996;0.996;0.902;0.996;0.996	T	0.30621	-0.9972	10	0.87932	D	0	-4.1391	19.0835	0.93192	0.0:1.0:0.0:0.0	.	34;34;34;34;34;34	Q9BX66-11;Q9BX66-9;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;SRBS1_HUMAN;.;.	H	34	ENSP00000360291:R34H;ENSP00000302556:R34H;ENSP00000360293:R34H;ENSP00000360271:R34H;ENSP00000360292:R34H;ENSP00000377521:R34H;ENSP00000343998:R34H;ENSP00000277985:R34H;ENSP00000355136:R34H;ENSP00000277982:R34H;ENSP00000277984:R34H	ENSP00000277982:R34H	R	-	2	0	SORBS1	97184440	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	5.431000	0.66507	2.767000	0.95098	0.655000	0.94253	CGC	SORBS1	-	NULL	ENSG00000095637		0.473	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0	48	0	C			97194450	-1	tier1	rs139115529	no_errors	ENST00000361941	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	97194450	C	T	97194450	3	4	44	1	0	0	0	0	1	0	0	0	14972	768	27	1	4090	1	SORBS1	10	97194450	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	41612398	97194450	38340297	156	10705											
ZFYVE27	118813	genome.wustl.edu	37	chr10	99509277	99509277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgcatgctgtatttgctgCcactctgctgggttctcacc	4	15	9	13	0	3	0	1	0	3	0	4	0	3	0	2	1	5	6	2	1	1	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:99509277C>T	ENST00000393677.4	+	6	802	c.598C>T	c.(598-600)Cca>Tca	p.P200S	ZFYVE27_ENST00000357540.4_Missense_Mutation_p.P114S|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.P200S|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.P168S|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.P200S|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.P102S|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.P200S|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.P82S	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	200					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GTATTTGCTGCCACTCTGCTG	0.517																																																	0													145	123	131					10																	99509277		2203	4300	6503	SO:0001583	missense	0			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.598C>T	10.37:g.99509277C>T	ENSP00000377282:p.Pro200Ser		B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.P200S	ENST00000393677.4	37	c.598	CCDS31263.1	10	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716881	0.89205	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.71222	-0.51;-0.55;-0.37;-0.32;-0.49;-0.48;-0.4	5.79	5.79	0.91817	.	0.046312	0.85682	D	0.000000	T	0.78723	0.4328	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.974;0.977;0.998;1.0;0.996	T	0.79976	-0.1576	10	0.72032	D	0.01	-25.214	18.2147	0.89881	0.0:1.0:0.0:0.0	.	168;102;82;114;200;200;200	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	S	168;114;82;102;200;200;200;200;178	ENSP00000337993:P168S;ENSP00000359642:P102S;ENSP00000377282:P200S;ENSP00000401580:P200S;ENSP00000353069:P200S;ENSP00000348593:P200S;ENSP00000409594:P178S	ENSP00000337993:P168S	P	+	1	0	ZFYVE27	99499267	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.862000	0.75484	2.753000	0.94483	0.555000	0.69702	CCA	ZFYVE27	-	NULL	ENSG00000155256		0.517	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	ZFYVE27	HGNC	protein_coding	OTTHUMT00000049745.2		0	49	0	C	NM_144588		99509277	1			no_errors	ENST00000356257	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	99509277	C	T	99509277	3	4	44	1	0	0	0	0	1	0	0	0	17717	739	26	3	616	3	ZFYVE27	10	99509277	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2314827	99509277	36025470	157	10706											
C10orf26	54838	genome.wustl.edu	37	chr10	104569775	104569775	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacctgatcgcttaccgaGaagcccacaattactcagcg	12	8	7	14	3	2	2	2	1	0	1	3	3	2	2	3	0	5	1	3	0	5	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:104569775G>T	ENST00000369889.4	+	3	398	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	WBP1L_ENST00000448841.1_Nonsense_Mutation_p.E107*	NM_017787.4	NP_060257.4	Q9NX94	WBP1L_HUMAN	WW domain binding protein 1-like	86						integral component of membrane (GO:0016021)											CGCTTACCGAGAAGCCCACAA	0.572																																																	0													182	182	182					10																	104569775		2203	4300	6503	SO:0001587	stop_gained	0			AK056285	CCDS7540.1, CCDS44473.1	10q24.33	2012-05-02	2012-05-02	2012-05-02	ENSG00000166272	ENSG00000166272			23510	protein-coding gene	gene with protein product	"outcome predictor in acute leukemia 1"	611129	"chromosome 10 open reading frame 26"	C10orf26			Standard	NM_017787		Approved	FLJ20154, OPAL1	uc001kwf.4	Q9NX94	OTTHUMG00000018968	ENST00000369889.4:c.256G>T	10.37:g.104569775G>T	ENSP00000358905:p.Glu86*		B3KPF4|B7Z6S7|D3DR90|Q1EG70|Q2HIY7|Q5F2G6	Nonsense_Mutation	SNP	pfam_Uncharacterised_WW-bd	p.E107*	ENST00000369889.4	37	c.319	CCDS7540.1	10	.	.	.	.	.	.	.	.	.	.	g	36	5.764243	0.96906	.	.	ENSG00000166272	ENST00000448841;ENST00000369889	.	.	.	5.76	5.76	0.90799	.	0.144262	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-13.4132	20.0677	0.97707	0.0:0.0:1.0:0.0	.	.	.	.	X	107;86	.	ENSP00000358905:E86X	E	+	1	0	C10orf26	104559765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.828000	0.99408	2.751000	0.94390	0.544000	0.68410	GAA	WBP1L	-	pfam_Uncharacterised_WW-bd	ENSG00000166272		0.572	WBP1L-001	KNOWN	basic|CCDS	protein_coding	WBP1L	HGNC	protein_coding	OTTHUMT00000050100.1	-	0	68	0	G	NM_017787		104569775	1	tier1	-	no_errors	ENST00000448841	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	104569775	G	T	104569775	4	4	44	1	0	0	0	0	0	1	0	0	1604	943	33	3	360	3	C10orf26	10	104569775	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	5060498	104569775	30964972	158	10707											
PDCD11	22984	genome.wustl.edu	37	chr10	105193741	105193741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcttgaggtggagattGccccagacatccgggggaga	10	7	16	8	1	0	4	0	1	0	3	1	6	1	4	3	5	1	1	3	5	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:105193741G>T	ENST00000369797.3	+	23	3605	c.3511G>T	c.(3511-3513)Gcc>Tcc	p.A1171S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1171	S1 motif 10. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGTGGAGATTGCCCCAGACAT	0.483																																																	0													120	119	120					10																	105193741		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.3511G>T	10.37:g.105193741G>T	ENSP00000358812:p.Ala1171Ser		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.A1171S	ENST00000369797.3	37	c.3511	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	8.769	0.925573	0.18056	.	.	ENSG00000148843	ENST00000369797	T	0.16743	2.32	5.43	2.19	0.27852	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.522537	0.22548	N	0.058639	T	0.04588	0.0125	N	0.04335	-0.225	0.22601	N	0.998946	B	0.20550	0.046	B	0.12837	0.008	T	0.40136	-0.9579	10	0.02654	T	1	-2.3854	2.16	0.03822	0.3607:0.0:0.402:0.2373	.	1171	Q14690	RRP5_HUMAN	S	1171	ENSP00000358812:A1171S	ENSP00000358812:A1171S	A	+	1	0	PDCD11	105183731	0.011000	0.17503	0.998000	0.56505	0.992000	0.81027	0.408000	0.21065	1.296000	0.44742	0.462000	0.41574	GCC	PDCD11	-	superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.483	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1		0	86	0	G			105193741	1			no_errors	ENST00000369797	ensembl	human	known	74_37	missense	7.84	46	4	SNP	0.989	T	T	105193741	G	T	105193741	3	4	44	1	0	0	0	0	1	0	0	0	11656	1319	46	3	3597	3	PDCD11	10	105193741	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	623966	105193741	30341006	159	10708											
DHX32	55760	genome.wustl.edu	37	chr10	127569206	127569206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtatttttctttccatataGgaagatcttctctttctttc	8	21	4	8	0	4	1	0	0	4	1	7	2	5	2	1	1	0	1	1	1	4	9			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr10:127569206G>T	ENST00000284690.3	-	1	678	c.188C>A	c.(187-189)cCt>cAt	p.P63H	DHX32_ENST00000284688.6_Missense_Mutation_p.P63H	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	63						mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTCCATATAGGAAGATCTTC	0.383																																																	0													80	78	79					10																	127569206		2203	4300	6503	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.188C>A	10.37:g.127569206G>T	ENSP00000284690:p.Pro63His		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.P63H	ENST00000284690.3	37	c.188	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568808	0.86439	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T;T	0.10860	2.83;2.83;2.83	4.94	4.94	0.65067	.	0.257143	0.40144	N	0.001163	T	0.44829	0.1312	H	0.96333	3.805	0.37712	D	0.924611	D	0.71674	0.998	P	0.60173	0.87	T	0.68074	-0.5505	10	0.87932	D	0	-19.8743	18.3528	0.90344	0.0:0.0:1.0:0.0	.	63	Q7L7V1	DHX32_HUMAN	H	63	ENSP00000284690:P63H;ENSP00000284688:P63H;ENSP00000406781:P63H	ENSP00000284688:P63H	P	-	2	0	DHX32	127559196	1.000000	0.71417	0.908000	0.35775	0.981000	0.71138	6.628000	0.74262	2.557000	0.86248	0.555000	0.69702	CCT	DHX32	-	superfamily_P-loop_NTPase	ENSG00000089876		0.383	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2	-	0	56	0	G	NM_018180		127569206	-1	tier1	-	no_errors	ENST00000284690	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	127569206	G	T	127569206	3	4	44	1	0	0	0	0	1	0	0	0	4519	1000	35	3	2087	3	DHX32	10	127569206	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	22375465	127569206	7965541	160	10709											
MUC6	4588	genome.wustl.edu	37	chr11	1016412	1016414	+	In_Frame_Del	DEL	GAG	GAG	-																															cagaaggactgggagaaaatGaggaggacagctgattagtt																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:1016412_1016414delGAG	ENST00000421673.2	-	31	6437_6439	c.6387_6389delCTC	c.(6385-6390)tcctca>tca	p.2129_2130SS>S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2129	Ser-rich.|Thr-rich.			S -> F (in Ref. 6; BAC04860). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S2130delS(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGAAAATGAGGAGGACAGCT	0.522																																																	1	Deletion - In frame(1)	stomach(1)								1,3949		0,1,1974						2.9	0			96	0,8040		0,0,4020	no	coding	MUC6	NM_005961.2		0,1,5994	A1A1,A1R,RR		0.0,0.0253,0.0083				1,11989				SO:0001651	inframe_deletion	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6387_6389delCTC	11.37:g.1016415_1016417delGAG	ENSP00000406861:p.Ser2130del		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.S2130in_frame_del	ENST00000421673.2	37	c.6389_6387	CCDS44513.1	11																																																																																			MUC6	-	NULL	ENSG00000184956		0.522	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	55	0	GAG	XM_290540		1016414	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	in_frame_del	16.67	25	5	DEL	0.002:0.002:0.018	-	-	1016414	GAG	-	1016412	7	5	44	1	0	1	0	1	0	0	0	0	10018	1294	45	0	942	0	MUC6	11	1016412	In_Frame_Del	DEL	GAG	TCGA-JY-A93D-01A-11D-A387-09		1016412	133990104	161	10710											
MUC2	4583	genome.wustl.edu	37	chr11	1103846	1103846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggtgccctgctccacCgtccccgtcaccacggaggt	6	6	11	18	3	1	0	1	0	0	0	3	1	3	1	7	3	2	1	7	3	0	0	rs373650802	byFrequency	TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:1103846C>T	ENST00000441003.2	+	48	8172	c.8145C>T	c.(8143-8145)acC>acT	p.T2715T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5077					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCTCCACCGTCCCCGTCA	0.647													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		14849	0		0	False		,,,				2504	0																0								C		8,4018		0,8,2005	19	22	21		8130	-0.5	0.3	11		21	0,8256		0,0,4128	no	coding-synonymous	MUC2	NM_002457.2		0,8,6133	TT,TC,CC		0.0,0.1987,0.0651		2710/2813	1103846	8,12274	2013	4128	6141	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8145C>T	11.37:g.1103846C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T2715	ENST00000441003.2	37	c.8145		11																																																																																			MUC2	-	smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000198788		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	63	0	C	NM_002457		1103846	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	8.33	55	5	SNP	0.003	T	T	1103846	C	T	1103846	2	4	44	1	0	0	0	0	0	0	0	1	10013	639	23	1		1	MUC2	11	1103846	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	87434	1103846	133902670	162	10711											
ARFIP2	23647	genome.wustl.edu	37	chr11	6500011	6500011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggtcagcaaaggcatcaCccagtgcatgctgggtctgc	9	8	13	11	0	3	1	2	1	1	0	3	1	3	1	1	3	4	4	1	3	1	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:6500011C>T	ENST00000254584.2	-	5	577	c.494G>A	c.(493-495)gGt>gAt	p.G165D	TIMM10B_ENST00000530751.1_5'Flank|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Missense_Mutation_p.G80D|ARFIP2_ENST00000423813.2_Missense_Mutation_p.G127D|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.G165D|ARFIP2_ENST00000525235.1_Missense_Mutation_p.G165D	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	165	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)	p.G165V(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGGCATCACCCAGTGCATG	0.622																																					Melanoma(119;796 1674 9049 20480 24794)												1	Substitution - Missense(1)	lung(1)											49	40	43					11																	6500011		2201	4296	6497	SO:0001583	missense	0			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"arfaptin 2"	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.494G>A	11.37:g.6500011C>T	ENSP00000254584:p.Gly165Asp		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_AH_dom,pfscan_AH_dom	p.G165D	ENST00000254584.2	37	c.494	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	C	19.29	3.800007	0.70567	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813;ENST00000525235	D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14	5.67	5.67	0.87782	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.93979	0.7256	10	0.87932	D	0	.	15.7317	0.77810	0.0:0.8632:0.1368:0.0	.	80;165	B4E306;P53365	.;ARFP2_HUMAN	D	165;165;80;127;165	ENSP00000254584:G165D;ENSP00000379998:G165D;ENSP00000391427:G80D;ENSP00000398375:G127D;ENSP00000434124:G165D	ENSP00000254584:G165D	G	-	2	0	ARFIP2	6456587	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.994000	0.70623	2.677000	0.91161	0.561000	0.74099	GGT	ARFIP2	-	pfam_AH_dom,pfscan_AH_dom	ENSG00000132254		0.622	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1		0	28	0	C	NM_012402		6500011	-1			no_errors	ENST00000254584	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	6500011	C	T	6500011	3	4	44	1	0	0	0	0	1	0	0	0	855	507	18	3	547	3	ARFIP2	11	6500011	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	5396165	6500011	128506505	163	10712											
DCHS1	8642	genome.wustl.edu	37	chr11	6647467	6647467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataatggggccgcaggaaaCggggagcattgtcgttggca	10	7	16	8	3	0	0	0	0	0	0	1	2	0	2	1	6	2	4	1	6	2	3	rs147106756		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:6647467C>T	ENST00000299441.3	-	16	6920	c.6509G>A	c.(6508-6510)cGt>cAt	p.R2170H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2170	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCAGGAAACGGGGAGCATT	0.632																																																	0								C	HIS/ARG	0,4402		0,0,2201	54	46	49		6509	4.9	1	11	dbSNP_134	49	2,8590	1.2+/-3.3	0,2,4294	no	missense	DCHS1	NM_003737.2	29	0,2,6495	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	2170/3299	6647467	2,12992	2201	4296	6497	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.6509G>A	11.37:g.6647467C>T	ENSP00000299441:p.Arg2170His		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R2170H	ENST00000299441.3	37	c.6509	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455682	0.84209	0.0	2.33E-4	ENSG00000166341	ENST00000299441	T	0.61158	0.13	4.91	4.91	0.64330	Cadherin (2);Cadherin-like (1);	0.000000	0.45361	D	0.000371	T	0.68302	0.2986	L	0.46670	1.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61068	-0.7137	10	0.15066	T	0.55	.	17.2622	0.87073	0.0:1.0:0.0:0.0	.	2170	Q96JQ0	PCD16_HUMAN	H	2170	ENSP00000299441:R2170H	ENSP00000299441:R2170H	R	-	2	0	DCHS1	6604043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.617000	0.67716	2.571000	0.86741	0.563000	0.77884	CGT	DCHS1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.632	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	-	0	23	0	C	NM_003737		6647467	-1	tier1	rs147106756	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T	T	6647467	C	T	6647467	3	4	44	1	0	0	0	0	1	0	0	0	4296	536	19	1	3411	1	DCHS1	11	6647467	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	147456	6647467	128359049	164	10713											
OR2D3	120775	genome.wustl.edu	37	chr11	6943185	6943185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcaaaggggctctcaGgaaactagttgggagaaagt	14	8	14	5	0	2	2	2	0	1	2	3	4	2	3	0	4	1	2	0	4	4	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:6943185G>T	ENST00000317834.3	+	1	981	c.953G>T	c.(952-954)aGg>aTg	p.R318M		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGGCTCTCAGGAAACTAGTT	0.403																																																	0													64	66	65					11																	6943185		2201	4296	6497	SO:0001583	missense	0			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.953G>T	11.37:g.6943185G>T	ENSP00000320560:p.Arg318Met		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R318M	ENST00000317834.3	37	c.953	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	G	3.604	-0.080894	0.07141	.	.	ENSG00000178358	ENST00000317834	T	0.39997	1.05	5.07	-3.41	0.04839	.	0.632596	0.14071	N	0.343367	T	0.42381	0.1200	M	0.88906	2.99	0.09310	N	1	B	0.27416	0.178	B	0.25291	0.059	T	0.46048	-0.9219	10	0.87932	D	0	-1.8422	6.1118	0.20104	0.5054:0.0:0.3703:0.1243	.	318	Q8NGH3	OR2D3_HUMAN	M	318	ENSP00000320560:R318M	ENSP00000320560:R318M	R	+	2	0	OR2D3	6899761	0.000000	0.05858	0.006000	0.13384	0.062000	0.15995	-1.028000	0.03589	-0.772000	0.04602	-0.140000	0.14226	AGG	OR2D3	-	NULL	ENSG00000178358		0.403	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	-	0	56	0	G	NM_001004684		6943185	1	tier1	-	no_errors	ENST00000317834	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.000	T	T	6943185	G	T	6943185	3	4	44	1	0	0	0	0	1	0	0	0	11034	1000	35	3	955	3	OR2D3	11	6943185	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	295718	6943185	128063331	165	10714											
MADD	8567	genome.wustl.edu	37	chr11	47304039	47304039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggtagcttttcaagctgGctcctttctagcctcacgtc	5	15	9	12	1	3	0	2	0	1	0	5	0	4	0	2	2	3	4	2	2	3	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:47304039G>T	ENST00000311027.5	+	9	1742	c.1577G>T	c.(1576-1578)gGc>gTc	p.G526V	MADD_ENST00000402192.2_Missense_Mutation_p.G526V|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000406482.1_Missense_Mutation_p.G526V|MADD_ENST00000342922.4_Missense_Mutation_p.G526V|MADD_ENST00000395344.3_Missense_Mutation_p.G526V|MADD_ENST00000402799.1_Missense_Mutation_p.G526V|MADD_ENST00000395336.3_Missense_Mutation_p.G526V|MADD_ENST00000407859.3_Missense_Mutation_p.G526V|MADD_ENST00000349238.3_Missense_Mutation_p.G526V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTTCAAGCTGGCTCCTTTCTA	0.557																																																	0													97	94	95					11																	47304039		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1577G>T	11.37:g.47304039G>T	ENSP00000310933:p.Gly526Val			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G526V	ENST00000311027.5	37	c.1577	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918481	0.73098	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.77	5.77	0.91146	dDENN (3);	0.236068	0.44483	D	0.000450	T	0.31949	0.0813	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.34147	0.343;0.053;0.438;0.257;0.257;0.257;0.142;0.433;0.095;0.257	B;B;B;B;B;B;B;B;B;B	0.43575	0.424;0.158;0.36;0.098;0.098;0.062;0.098;0.234;0.158;0.211	T	0.19679	-1.0298	10	0.59425	D	0.04	-22.5816	7.0549	0.25093	0.1084:0.173:0.7186:0.0	.	526;526;526;526;526;526;526;526;526;526	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	526	ENSP00000343902:G526V;ENSP00000385585:G526V;ENSP00000384435:G526V;ENSP00000304505:G526V;ENSP00000310933:G526V;ENSP00000384204:G526V;ENSP00000378753:G526V;ENSP00000378745:G526V;ENSP00000384287:G526V	ENSP00000310933:G526V	G	+	2	0	MADD	47260615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.216000	0.58540	2.884000	0.98904	0.655000	0.94253	GGC	MADD	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000110514		0.557	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1		0	61	0	G			47304039	1			no_errors	ENST00000311027	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	47304039	G	T	47304039	3	4	44	1	0	0	0	0	1	0	0	0	9188	1203	42	3	1607	3	MADD	11	47304039	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	40360854	47304039	87702477	166	10715											
OR4C13	283092	genome.wustl.edu	37	chr11	49974054	49974054	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgcagaaaatcatatttgTtgtgttttctgtcatctaca	12	17	6	6	0	4	1	2	0	2	1	4	1	4	1	0	0	2	3	0	0	5	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:49974054T>A	ENST00000555099.1	+	1	112	c.80T>A	c.(79-81)gTt>gAt	p.V27D		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCATATTTGTTGTGTTTTCT	0.388																																																	0													160	151	154					11																	49974054		2201	4296	6497	SO:0001583	missense	0			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"GPCR / Class A : Olfactory receptors"	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.80T>A	11.37:g.49974054T>A	ENSP00000452277:p.Val27Asp		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V27D	ENST00000555099.1	37	c.80	CCDS31495.1	11	.	.	.	.	.	.	.	.	.	.	.	9.569	1.120614	0.20877	.	.	ENSG00000258817	ENST00000555099	T	0.00466	7.23	2.95	-3.26	0.05064	.	1.104210	0.07247	U	0.865212	T	0.01320	0.0043	H	0.96576	3.845	0.09310	N	1	P	0.40834	0.73	P	0.47206	0.541	T	0.07424	-1.0773	9	.	.	.	.	8.8484	0.35184	0.0:0.4161:0.0:0.5839	.	27	Q8NGP0	OR4CD_HUMAN	D	27	ENSP00000452277:V27D	.	V	+	2	0	OR4C13	49930630	0.000000	0.05858	0.001000	0.08648	0.249000	0.25844	-0.520000	0.06252	-0.611000	0.05709	0.164000	0.16699	GTT	OR4C13	-	prints_GPCR_Rhodpsn	ENSG00000258817		0.388	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	HGNC	protein_coding	OTTHUMT00000391103.1	-	0	73	0	T	NM_001001955		49974054	1	tier1	-	no_errors	ENST00000555099	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.001	A	A	49974054	T	A	49974054	3	1	44	1	0	0	0	0	1	0	0	0	11086	1725	60	5	82	5	OR4C13	11	49974054	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	2670015	49974054	85032462	167	10716											
OR4C6	219432	genome.wustl.edu	37	chr11	55433080	55433080	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctaatggtaggaggggcTtgggtggggggatttatgca	7	11	19	4	0	0	0	0	0	0	0	0	2	0	2	1	8	2	3	1	8	3	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:55433080T>C	ENST00000314259.3	+	1	467	c.438T>C	c.(436-438)gcT>gcC	p.A146A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TAGGAGGGGCTTGGGTGGGGG	0.473																																																	0													91	89	90					11																	55433080		2200	4296	6496	SO:0001819	synonymous_variant	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.438T>C	11.37:g.55433080T>C			B2RP11|Q6IFD2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A146	ENST00000314259.3	37	c.438	CCDS31506.1	11																																																																																			OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181903		0.473	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	-	0	69	0	T	NM_001004704		55433080	1	tier1	-	no_errors	ENST00000314259	ensembl	human	known	74_37	silent	8.33	55	5	SNP	0.913	C	C	55433080	T	C	55433080	2	2	44	1	0	0	0	0	0	0	0	1	11091	1596	56	4		4	OR4C6	11	55433080	Silent	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	5459026	55433080	79573436	168	10717											
OR8H1	219469	genome.wustl.edu	37	chr11	56058494	56058494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaatctgacagtccCgtaaggatgaagtcaggcac	12	9	10	10	1	4	3	2	2	2	1	5	4	5	4	1	2	0	2	1	2	3	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:56058494C>T	ENST00000313022.2	-	1	72	c.45G>A	c.(43-45)acG>acA	p.T15T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CTGACAGTCCCGTAAGGATGA	0.378																																																	0													108	104	105					11																	56058494		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.45G>A	11.37:g.56058494C>T			B2RNI7|Q6IFC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T15	ENST00000313022.2	37	c.45	CCDS31526.1	11																																																																																			OR8H1	-	NULL	ENSG00000181693		0.378	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1		0	41	0	C	NM_001005199		56058494	-1			no_errors	ENST00000313022	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.002	T	T	56058494	C	T	56058494	2	4	44	1	0	0	0	0	0	0	0	1	11276	639	23	1		1	OR8H1	11	56058494	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	625414	56058494	78948022	169	10718											
LRRC55	219527	genome.wustl.edu	37	chr11	56949646	56949646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccgtaaccaggtggtggaTtgtagcagccagcggctatt	8	10	14	9	2	0	0	0	0	0	0	0	1	0	1	3	4	5	4	3	4	3	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:56949646T>C	ENST00000497933.1	+	1	426	c.279T>C	c.(277-279)gaT>gaC	p.D93D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	63					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGGTGGTGGATTGTAGCAGCC	0.627																																																	0													54	59	57					11																	56949646		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.279T>C	11.37:g.56949646T>C			A7E2U7|B2RN81	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D93	ENST00000497933.1	37	c.279	CCDS31539.1	11																																																																																			LRRC55	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000183908		0.627	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	-	0	115	0	T	NM_001005210		56949646	1	tier1	-	no_errors	ENST00000497933	ensembl	human	known	74_37	silent	29.55	62	26	SNP	0.906	C	C	56949646	T	C	56949646	2	2	44	1	0	0	0	0	0	0	0	1	9046	1490	52	4		4	LRRC55	11	56949646	Silent	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	891152	56949646	78056870	170	10719											
OR5A2	219981	genome.wustl.edu	37	chr11	59189883	59189883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagccaggactggagggaGgtcacagaaaaagtggttga	14	5	16	6	0	1	3	1	1	0	2	1	6	1	6	1	5	1	1	1	5	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:59189883G>T	ENST00000302040.4	-	1	566	c.544C>A	c.(544-546)Ctc>Atc	p.L182I		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L182I(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGGAGGGAGGTCACAGAAA	0.478																																																	1	Substitution - Missense(1)	lung(1)											102	90	94					11																	59189883		2201	4295	6496	SO:0001583	missense	0			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"GPCR / Class A : Olfactory receptors"	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.544C>A	11.37:g.59189883G>T	ENSP00000303834:p.Leu182Ile		B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L182I	ENST00000302040.4	37	c.544	CCDS31560.1	11	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732263	0.30684	.	.	ENSG00000172324	ENST00000302040	T	0.37411	1.2	5.47	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31936	U	0.006840	T	0.24122	0.0584	N	0.04116	-0.275	0.22112	N	0.999359	D	0.55800	0.973	P	0.57009	0.811	T	0.21621	-1.0240	10	0.02654	T	1	.	10.3915	0.44171	0.0:0.1416:0.7015:0.1569	.	182	Q8NGI9	OR5A2_HUMAN	I	182	ENSP00000303834:L182I	ENSP00000303834:L182I	L	-	1	0	OR5A2	58946459	0.000000	0.05858	0.818000	0.32626	0.924000	0.55760	-0.453000	0.06778	0.740000	0.32651	0.585000	0.79938	CTC	OR5A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172324		0.478	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	HGNC	protein_coding	OTTHUMT00000394552.1		0	37	0	G	NM_001001954		59189883	-1			no_errors	ENST00000302040	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.926	T	T	59189883	G	T	59189883	3	4	44	1	0	0	0	0	1	0	0	0	11179	1000	35	3	432	3	OR5A2	11	59189883	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2240237	59189883	75816633	171	10720											
MRPL16	54948	genome.wustl.edu	37	chr11	59577339	59577339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctcaccttcaaaacttGgtactgggagcagtgtcttt	9	13	9	10	0	3	0	2	0	2	0	4	1	3	1	1	2	4	3	1	2	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:59577339G>T	ENST00000300151.4	-	2	323	c.110C>A	c.(109-111)cCa>cAa	p.P37Q		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	37					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TTCAAAACTTGGTACTGGGAG	0.493																																																	0													60	56	57					11																	59577339		2201	4295	6496	SO:0001583	missense	0			AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"Mitochondrial ribosomal proteins / large subunits"	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.110C>A	11.37:g.59577339G>T	ENSP00000300151:p.Pro37Gln		Q9BYD0|Q9HB70	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,prints_Ribosomal_L16	p.P37Q	ENST00000300151.4	37	c.110	CCDS7976.1	11	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389069	0.61956	.	.	ENSG00000166902	ENST00000300151	T	0.24151	1.87	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	M	0.65498	2.005	0.80722	D	1	D	0.64830	0.994	P	0.59357	0.856	T	0.08371	-1.0725	10	0.23302	T	0.38	-11.6383	15.779	0.78246	0.0:0.0:1.0:0.0	.	37	Q9NX20	RM16_HUMAN	Q	37	ENSP00000300151:P37Q	ENSP00000300151:P37Q	P	-	2	0	MRPL16	59333915	0.999000	0.42202	0.970000	0.41538	0.174000	0.22865	4.489000	0.60309	2.788000	0.95919	0.650000	0.86243	CCA	MRPL16	-	NULL	ENSG00000166902		0.493	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL16	HGNC	protein_coding	OTTHUMT00000394521.1	-	0	68	0	G	NM_017840		59577339	-1	tier1	-	no_errors	ENST00000300151	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.987	T	T	59577339	G	T	59577339	3	4	44	1	0	0	0	0	1	0	0	0	9819	1348	47	3	657	3	MRPL16	11	59577339	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	387456	59577339	75429177	172	10721											
MARK2	2011	genome.wustl.edu	37	chr11	63670095	63670095	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcctgccattcccacCtctaattcttactctaagaa	9	13	5	14	0	3	1	0	0	3	1	5	1	5	1	4	1	2	1	4	1	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:63670095C>A	ENST00000509502.2	+	13	1618	c.1155C>A	c.(1153-1155)acC>acA	p.T385T	MARK2_ENST00000402010.2_Silent_p.T419T|MARK2_ENST00000513765.2_Silent_p.T386T|MARK2_ENST00000350490.7_Silent_p.T418T|MARK2_ENST00000361128.5_Silent_p.T419T|MARK2_ENST00000502399.3_Silent_p.T418T|MARK2_ENST00000413835.2_Silent_p.T419T|MARK2_ENST00000377809.4_Silent_p.T419T|MARK2_ENST00000508192.1_Silent_p.T418T|MARK2_ENST00000425897.2_Silent_p.T385T|MARK2_ENST00000377810.3_Silent_p.T385T|MARK2_ENST00000408948.3_Silent_p.T385T|MARK2_ENST00000315032.8_Silent_p.T419T	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCATTCCCACCTCTAATTCTT	0.572																																																	0													32	32	32					11																	63670095		2201	4297	6498	SO:0001819	synonymous_variant	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1155C>A	11.37:g.63670095C>A				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T419	ENST00000509502.2	37	c.1257	CCDS41665.1	11																																																																																			MARK2	-	NULL	ENSG00000072518		0.572	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2		0	120	0	C	NM_017490		63670095	1			no_errors	ENST00000402010	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.997	A	A	63670095	C	A	63670095	2	1	44	1	0	0	0	0	0	0	0	1	9351	668	24	3		3	MARK2	11	63670095	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	4092756	63670095	71336421	173	10722											
LTBP3	4054	genome.wustl.edu	37	chr11	65320651	65320651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccctggcagtgggtgctGttaagcctcttgtagccctg	6	12	12	11	0	1	0	0	0	1	0	1	0	1	0	3	2	4	4	3	2	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:65320651G>T	ENST00000301873.5	-	5	1315	c.1047C>A	c.(1045-1047)aaC>aaA	p.N349K	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.N349K	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	349					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGTGGGTGCTGTTAAGCCTCT	0.632																																																	0													76	71	73					11																	65320651		2201	4297	6498	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1047C>A	11.37:g.65320651G>T	ENSP00000301873:p.Asn349Lys		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.N349K	ENST00000301873.5	37	c.1047	CCDS44647.1	11	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527844	0.27299	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530866;ENST00000530426	D;D;D;D	0.92545	-1.56;-1.56;-2.3;-3.06	4.24	3.31	0.37934	Matrix fibril-associated (2);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	L	0.55834	1.745	0.80722	D	1	B;B;B;B	0.29232	0.012;0.089;0.012;0.238	B;B;B;B	0.31495	0.012;0.043;0.012;0.131	T	0.82629	-0.0363	10	0.38643	T	0.18	.	9.0617	0.36438	0.1975:0.0:0.8025:0.0	.	260;232;349;349	E9PKW1;B9EG76;Q9NS15;Q9NS15-2	.;.;LTBP3_HUMAN;.	K	349;349;260;70	ENSP00000326647:N349K;ENSP00000301873:N349K;ENSP00000435276:N260K;ENSP00000432476:N70K	ENSP00000301873:N349K	N	-	3	2	LTBP3	65077227	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.858000	0.48356	0.445000	0.26639	-1.233000	0.01565	AAC	LTBP3	-	superfamily_TB_dom	ENSG00000168056		0.632	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0	65	0	G	NM_021070		65320651	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	65320651	G	T	65320651	3	4	44	1	0	0	0	0	1	0	0	0	9110	1368	48	3	2960	3	LTBP3	11	65320651	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1650556	65320651	69685865	174	10723											
SPTBN2	6712	genome.wustl.edu	37	chr11	66481592	66481592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacgatggcgttgaaagctAgtccatctctccagctggtg	8	10	12	11	2	1	1	0	1	1	0	4	2	3	1	2	2	2	4	2	2	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:66481592A>G	ENST00000533211.1	-	7	957	c.626T>C	c.(625-627)cTa>cCa	p.L209P	RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000309996.2_Missense_Mutation_p.L209P|SPTBN2_ENST00000529997.1_Missense_Mutation_p.L209P			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	209	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTTGAAAGCTAGTCCATCTCT	0.493																																																	0													167	132	144					11																	66481592		2200	4295	6495	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.626T>C	11.37:g.66481592A>G	ENSP00000432568:p.Leu209Pro		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L209P	ENST00000533211.1	37	c.626	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	A	23.7	4.452929	0.84209	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.62498	0.02;0.02;0.02	4.8	4.8	0.61643	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.87394	0.6166	H	0.99249	4.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92125	0.5707	10	0.87932	D	0	.	13.4493	0.61161	1.0:0.0:0.0:0.0	.	209	O15020	SPTN2_HUMAN	P	209	ENSP00000432568:L209P;ENSP00000311489:L209P;ENSP00000433593:L209P	ENSP00000311489:L209P	L	-	2	0	SPTBN2	66238168	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	9.081000	0.94049	2.023000	0.59567	0.374000	0.22700	CTA	SPTBN2	-	pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000173898		0.493	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0	44	0	A	NM_006946		66481592	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	10.26	34	4	SNP	1.000	G	G	66481592	A	G	66481592	3	3	44	1	0	0	0	0	1	0	0	0	15167	420	15	4	6674	4	SPTBN2	11	66481592	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	1160941	66481592	68524924	175	10724											
TCIRG1	10312	genome.wustl.edu	37	chr11	67817454	67817454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaggccgggttgctggAcctgcctgacgcatctgtga	9	8	13	11	2	1	2	0	2	1	0	1	3	1	3	3	3	3	3	3	3	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:67817454A>G	ENST00000265686.3	+	17	2147	c.2039A>G	c.(2038-2040)gAc>gGc	p.D680G	TCIRG1_ENST00000532635.1_Missense_Mutation_p.D464G|RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|RP11-802E16.3_ENST00000526897.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	680					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGGTTGCTGGACCTGCCTGAC	0.647																																																	0													44	44	44					11																	67817454		2200	4294	6494	SO:0001583	missense	0			AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"ATPases / V-type"	11647	protein-coding gene	gene with protein product	"T-cell immune response cDNA 7"	604592	"T-cell, immune regulator 1", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3", "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2039A>G	11.37:g.67817454A>G	ENSP00000265686:p.Asp680Gly		O75877|Q8WVC5	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.D680G	ENST00000265686.3	37	c.2039	CCDS8177.1	11	.	.	.	.	.	.	.	.	.	.	A	3.681	-0.065573	0.07273	.	.	ENSG00000110719	ENST00000265686;ENST00000532635;ENST00000546315	D;D	0.85773	-2.03;-2.03	3.91	0.0901	0.14462	.	0.706963	0.13741	N	0.365995	T	0.65616	0.2708	N	0.12637	0.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48843	-0.8999	10	0.18276	T	0.48	-28.1401	4.1411	0.10194	0.6109:0.1854:0.2037:0.0	.	680	Q13488	VPP3_HUMAN	G	680;464;38	ENSP00000265686:D680G;ENSP00000434407:D464G	ENSP00000265686:D680G	D	+	2	0	TCIRG1	67574030	0.029000	0.19370	0.009000	0.14445	0.004000	0.04260	1.199000	0.32235	-0.086000	0.12550	-0.609000	0.04063	GAC	TCIRG1	-	pfam_V-ATPase_116kDa_su	ENSG00000110719		0.647	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCIRG1	HGNC	protein_coding	OTTHUMT00000394305.1	-	0	23	0	A	NM_006019		67817454	1	tier1	-	no_errors	ENST00000265686	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.002	G	G	67817454	A	G	67817454	3	3	44	1	0	0	0	0	1	0	0	0	15750	275	10	4	2101	4	TCIRG1	11	67817454	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	1335862	67817454	67189062	176	10725											
CPT1A	1374	genome.wustl.edu	37	chr11	68540864	68540864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtttgccagaagatttgCggtgttcagggaggtctcta	7	13	14	7	2	2	2	1	0	1	2	4	3	2	3	1	3	2	2	1	3	2	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:68540864C>T	ENST00000265641.5	-	14	1763	c.1609G>A	c.(1609-1611)Gca>Aca	p.A537T	CPT1A_ENST00000540367.1_Missense_Mutation_p.A537T|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000539743.1_Missense_Mutation_p.A537T|CPT1A_ENST00000376618.2_Missense_Mutation_p.A537T	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	537					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	AGAAGATTTGCGGTGTTCAGG	0.473																																																	0													109	90	96					11																	68540864		2200	4294	6494	SO:0001583	missense	0			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.1609G>A	11.37:g.68540864C>T	ENSP00000265641:p.Ala537Thr		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A537T	ENST00000265641.5	37	c.1609	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.278647	0.80692	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	4.79	3.87	0.44632	.	0.000000	0.85682	D	0.000000	D	0.94598	0.8259	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70716	0.966;0.97	D	0.93742	0.7051	10	0.23891	T	0.37	.	13.4509	0.61169	0.0:0.9228:0.0:0.0772	.	537;537	P50416;P50416-2	CPT1A_HUMAN;.	T	537	ENSP00000439084:A537T;ENSP00000365803:A537T;ENSP00000265641:A537T;ENSP00000446108:A537T	ENSP00000265641:A537T	A	-	1	0	CPT1A	68297440	1.000000	0.71417	0.018000	0.16275	0.897000	0.52465	7.458000	0.80787	1.139000	0.42245	0.297000	0.19635	GCA	CPT1A	-	pfam_Carn_acyl_trans	ENSG00000110090		0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	-	0	61	0	C	NM_001876		68540864	-1	tier1	-	no_errors	ENST00000265641	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.996	T	T	68540864	C	T	68540864	3	4	44	1	0	0	0	0	1	0	0	0	3838	768	27	1	776	1	CPT1A	11	68540864	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	723410	68540864	66465652	177	10726											
MYEOV	26579	genome.wustl.edu	37	chr11	69063836	69063836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctcctcctcctcctcCtcatcatcatcctcacttgt	6	13	1	21	0	4	0	4	0	0	0	10	0	10	0	8	0	0	0	8	0	0	1	rs147884839		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:69063836C>A	ENST00000308946.3	+	3	1369	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	MYEOV_ENST00000441339.2_Missense_Mutation_p.L307I|MYEOV_ENST00000535407.1_Missense_Mutation_p.L249I	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	307								p.L307I(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cctcctcctcctcatcatcat	0.547																																																	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)						C	ILE/LEU	0,4394		0,0,2197	34	30	32		919	-1.5	0	11	dbSNP_134	32	2,8576		0,2,4287	yes	missense	MYEOV	NM_138768.2	5	0,2,6484	AA,AC,CC		0.0233,0.0,0.0154	benign	307/314	69063836	2,12970	2197	4289	6486	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.919C>A	11.37:g.69063836C>A	ENSP00000308330:p.Leu307Ile		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.L307I	ENST00000308946.3	37	c.919	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.613296	0.00835	0.0	2.33E-4	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25250	1.81;1.81;1.81	0.761	-1.52	0.08637	.	.	.	.	.	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	9	0.87932	D	0	.	6.2599	0.20893	0.6536:0.3464:0.0:0.0	.	307	Q96EZ4	MYEOV_HUMAN	I	307;307;249	ENSP00000412482:L307I;ENSP00000308330:L307I;ENSP00000438100:L249I	ENSP00000308330:L307I	L	+	1	0	MYEOV	68820412	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.000000	0.00653	-2.447000	0.00545	-3.020000	0.00074	CTC	MYEOV	-	NULL	ENSG00000172927		0.547	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1		0	25	0	C			69063836	1			no_errors	ENST00000308946	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	A	A	69063836	C	A	69063836	3	1	44	1	0	0	0	0	1	0	0	0	10063	681	24	3	925	3	MYEOV	11	69063836	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	522972	69063836	65942680	178	10727											
DHCR7	1717	genome.wustl.edu	37	chr11	71155041	71155041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggggctgctgacctGgaaggtgacccacaaggtat	10	6	16	9	0	0	2	0	2	0	0	0	3	0	3	2	6	1	4	2	6	3	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:71155041G>T	ENST00000355527.3	-	4	595	c.319C>A	c.(319-321)Cag>Aag	p.Q107K	DHCR7_ENST00000407721.2_Missense_Mutation_p.Q107K	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	107			Q -> H (in SLOS). {ECO:0000269|PubMed:10677299}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						CTGCTGACCTGGAAGGTGACC	0.612									Smith-Lemli-Opitz syndrome																																								0													34	27	29					11																	71155041		2200	4294	6494	SO:0001583	missense	0	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.319C>A	11.37:g.71155041G>T	ENSP00000347717:p.Gln107Lys		B2R6Z2|O60492|O60717	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24	p.Q107K	ENST00000355527.3	37	c.319	CCDS8200.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027975	0.75390	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000527316;ENST00000526780;ENST00000525346	D;D;D;D;D	0.98717	-4.71;-4.71;-4.71;-5.09;-3.66	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.98799	1.0739	10	0.52906	T	0.07	-21.5092	11.4313	0.50043	0.0:0.0:1.0:0.0	.	107	Q9UBM7	DHCR7_HUMAN	K	107;107;107;75;107;107	ENSP00000384739:Q107K;ENSP00000347717:Q107K;ENSP00000435047:Q75K;ENSP00000435668:Q107K;ENSP00000435707:Q107K	ENSP00000347717:Q107K	Q	-	1	0	DHCR7	70832689	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	8.225000	0.89784	2.137000	0.66172	0.442000	0.29010	CAG	DHCR7	-	pfam_Ergosterol_biosynth_ERG4_ERG24	ENSG00000172893		0.612	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	HGNC	protein_coding	OTTHUMT00000394243.1	-	0	74	0	G	NM_001360		71155041	-1	tier1	-	no_errors	ENST00000355527	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	71155041	G	T	71155041	3	4	44	1	0	0	0	0	1	0	0	0	4491	1357	47	3	1132	3	DHCR7	11	71155041	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2091205	71155041	63851475	179	10728											
CCDC82	79780	genome.wustl.edu	37	chr11	96117597	96117597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttcatatgttgaaccGttgccagagttaatgagaca	11	14	8	8	1	3	3	1	2	2	2	3	4	3	3	2	0	2	3	2	0	3	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:96117597G>T	ENST00000278520.5	-	3	743	c.315C>A	c.(313-315)aaC>aaA	p.N105K	CCDC82_ENST00000542662.1_Missense_Mutation_p.N105K|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.N105K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	105								p.N105N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTGAACCGTTGCCAGAGT	0.338																																																	1	Substitution - coding silent(1)	endometrium(1)											194	185	188					11																	96117597		2201	4297	6498	SO:0001583	missense	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.315C>A	11.37:g.96117597G>T	ENSP00000278520:p.Asn105Lys		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	NULL	p.N105K	ENST00000278520.5	37	c.315	CCDS8307.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410901	0.25465	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.51	0.933	0.19471	.	0.474648	0.21365	N	0.075723	T	0.16854	0.0405	N	0.20986	0.625	0.09310	N	1	P;P	0.51537	0.946;0.48	P;B	0.49683	0.619;0.216	T	0.17107	-1.0380	10	0.10111	T	0.7	-4.9086	5.5396	0.17031	0.4546:0.1374:0.408:0.0	.	105;105	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	K	105	ENSP00000278520:N105K;ENSP00000444010:N105K;ENSP00000397156:N105K;ENSP00000442723:N105K	ENSP00000278520:N105K	N	-	3	2	CCDC82	95757245	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	0.127000	0.15790	-0.021000	0.14009	0.655000	0.94253	AAC	CCDC82	-	NULL	ENSG00000149231		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	-	0	75	0	G	NM_024725		96117597	-1	tier1	-	no_errors	ENST00000278520	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.000	T	T	96117597	G	T	96117597	3	4	44	1	0	0	0	0	1	0	0	0	2863	1136	40	2	1347	2	CCDC82	11	96117597	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	24962556	96117597	38888919	180	10729											
FDXACB1	91893	genome.wustl.edu	37	chr11	111749781	111749781	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggtaagttgagtgctctGatccagggtttcgctcagag	7	11	15	8	2	2	3	1	2	1	1	4	3	3	3	1	3	1	5	1	3	1	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:111749781G>A	ENST00000260257.4	-	1	123	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	C11orf1_ENST00000260276.3_5'Flank|ALG9_ENST00000524880.1_Nonsense_Mutation_p.Q26*|C11orf1_ENST00000530214.1_5'Flank|FDXACB1_ENST00000542429.1_5'UTR|ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000528125.1_Intron|C11orf1_ENST00000529270.1_5'Flank	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	26					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGAGTGCTCTGATCCAGGGTT	0.672											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	38	35					11																	111749781		1989	4178	6167	SO:0001587	stop_gained	0				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.76C>T	11.37:g.111749781G>A	ENSP00000260257:p.Gln26*	1437	A0PJW7|B4DUU2	Nonsense_Mutation	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.Q26*	ENST00000260257.4	37	c.76	CCDS44729.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.413705	0.96072	.	.	ENSG00000086848;ENSG00000255561	ENST00000428306;ENST00000260257	.	.	.	6.17	-1.73	0.08081	.	1.340910	0.04165	N	0.323810	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	11.4644	0.50230	0.1246:0.5613:0.3142:0.0	.	.	.	.	X	26	.	ENSP00000387627:Q26X	Q	-	1	0	FDXACB1;ALG9	111254991	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.513000	0.22770	-0.595000	0.05828	-0.176000	0.13171	CAG	FDXACB1	-	pfam_DUF2431	ENSG00000255561		0.672	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	-	0	179	0	G	NM_138378		111749781	-1	tier1	-	no_errors	ENST00000260257	ensembl	human	known	74_37	nonsense	23.53	91	28	SNP	0.000	A	A	111749781	G	A	111749781	4	1	44	1	0	0	0	0	0	1	0	0	5828	1299	45	3	1818	3	FDXACB1	11	111749781	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	15632184	111749781	23256735	181	10730											
TMPRSS5	80975	genome.wustl.edu	37	chr11	113563829	113563829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggagcctcaggagggCgacgtcgtagtcatgattct	7	10	15	9	3	4	1	2	1	2	0	5	4	4	3	1	4	1	1	1	4	1	2	rs536521016		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:113563829C>T	ENST00000299882.5	-	9	1076	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	TMPRSS5_ENST00000544634.1_Missense_Mutation_p.A241T|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.A51T|TMPRSS5_ENST00000536856.1_Missense_Mutation_p.A51T|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.A266T|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.A197T|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.A301T	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	310	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		CTCAGGAGGGCGACGTCGTAG	0.642													C|||	1	0.000199681	0	0	5008	,	,		15425	0.001		0	False		,,,				2504	0																0													25	31	29					11																	113563829		1963	4149	6112	SO:0001583	missense	0			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.928G>A	11.37:g.113563829C>T	ENSP00000299882:p.Ala310Thr			Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A310T	ENST00000299882.5	37	c.928	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909172	0.72868	.	.	ENSG00000166682	ENST00000536856;ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	T;T;T;T;T;T;T	0.77750	-1.07;-1.07;-1.12;-1.12;-1.12;-1.07;-1.07	5.38	5.38	0.77491	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.89399	0.6704	M	0.85630	2.765	0.51233	D	0.999918	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.81914	0.992;0.987;0.995;0.981	D	0.90914	0.4778	10	0.87932	D	0	.	17.8935	0.88879	0.0:1.0:0.0:0.0	.	241;51;301;310	F5GYA3;G5EA47;F5GX83;Q9H3S3	.;.;.;TMPS5_HUMAN	T	51;51;310;301;266;241;197	ENSP00000437937:A51T;ENSP00000437761:A51T;ENSP00000299882:A310T;ENSP00000441104:A301T;ENSP00000445528:A266T;ENSP00000440783:A241T;ENSP00000445930:A197T	ENSP00000299882:A310T	A	-	1	0	TMPRSS5	113069039	1.000000	0.71417	0.804000	0.32291	0.054000	0.15201	7.022000	0.76431	2.522000	0.85027	0.462000	0.41574	GCC	TMPRSS5	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000166682		0.642	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	HGNC	protein_coding	OTTHUMT00000398652.1		0	55	0	C	NM_030770		113563829	-1			no_errors	ENST00000299882	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.999	T	T	113563829	C	T	113563829	3	4	44	1	0	0	0	0	1	0	0	0	16297	768	27	1	465	1	TMPRSS5	11	113563829	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1814048	113563829	21442687	182	10731											
OR6M1	390261	genome.wustl.edu	37	chr11	123676267	123676267	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgtcataatccagtGaggagttctgattgggtctc	8	13	10	10	0	3	2	1	2	2	0	5	3	4	3	3	2	0	1	3	2	1	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:123676267G>T	ENST00000309154.2	-	1	828	c.791C>A	c.(790-792)tCa>tAa	p.S264*		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATAATCCAGTGAGGAGTTCTG	0.488																																																	0													115	107	109					11																	123676267		2202	4299	6501	SO:0001587	stop_gained	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.791C>A	11.37:g.123676267G>T	ENSP00000311038:p.Ser264*		B2RNK0|Q6IEW9|Q96R37	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S264*	ENST00000309154.2	37	c.791	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408500	0.25378	.	.	ENSG00000196099	ENST00000309154	.	.	.	3.48	2.56	0.30785	.	0.000000	0.29205	U	0.012835	.	.	.	.	.	.	0.50467	D	0.999879	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	8.2822	0.31906	0.1223:0.0:0.8777:0.0	.	.	.	.	X	264	.	ENSP00000311038:S264X	S	-	2	0	OR6M1	123181477	0.002000	0.14202	0.001000	0.08648	0.180000	0.23129	1.177000	0.31969	0.642000	0.30620	0.655000	0.94253	TCA	OR6M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196099		0.488	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	-	0	59	0	G	NM_001005325		123676267	-1	tier1	-	no_errors	ENST00000309154	ensembl	human	known	74_37	nonsense	19.23	42	10	SNP	0.000	T	T	123676267	G	T	123676267	4	4	44	1	0	0	0	0	0	1	0	0	11244	1294	45	3	153	3	OR6M1	11	123676267	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	10112438	123676267	11330249	183	10732											
IGSF9B	22997	genome.wustl.edu	37	chr11	133801606	133801606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccccagagtgttgtaagGcacacaggtataagtgccaa	12	8	12	9	0	0	1	0	0	0	1	1	1	1	1	3	3	1	4	3	3	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr11:133801606G>A	ENST00000321016.8	-	9	1425	c.1195C>T	c.(1195-1197)Cct>Tct	p.P399S	IGSF9B_ENST00000533871.2_Missense_Mutation_p.P399S			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	399	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGTTGTAAGGCACACAGGTA	0.602																																																	0													41	46	44					11																	133801606		2022	4185	6207	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1195C>T	11.37:g.133801606G>A	ENSP00000317980:p.Pro399Ser		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P399S	ENST00000321016.8	37	c.1195		11	.	.	.	.	.	.	.	.	.	.	G	31	5.098016	0.94197	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.12255	2.7;2.7;2.7	5.21	5.21	0.72293	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40839	0.1133	M	0.77616	2.38	0.80722	D	1	D	0.60160	0.987	D	0.69824	0.966	T	0.33137	-0.9880	9	0.66056	D	0.02	.	18.767	0.91878	0.0:0.0:1.0:0.0	.	399	Q9UPX0	TUTLB_HUMAN	S	399;241;399	ENSP00000317980:P399S;ENSP00000436552:P241S;ENSP00000436576:P399S	ENSP00000317980:P399S	P	-	1	0	IGSF9B	133306816	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.625000	0.83145	2.423000	0.82170	0.543000	0.68304	CCT	IGSF9B	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000080854		0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0	40	0	G	XM_290502		133801606	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A	A	133801606	G	A	133801606	3	1	44	1	0	0	0	0	1	0	0	0	7633	1203	42	3	2898	3	IGSF9B	11	133801606	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	10125339	133801606	1204910	184	10733											
A2M	2	genome.wustl.edu	37	chr12	9227282	9227282	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agataagcgaggagcacataGgatgtcatctccacctcagc	13	7	10	11	1	3	1	2	0	1	1	4	4	3	3	2	2	3	1	2	2	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:9227282G>T	ENST00000318602.7	-	29	3937	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1210					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAGCACATAGGATGTCATCT	0.567																																																	0													76	75	75					12																	9227282		2203	4300	6503	SO:0001819	synonymous_variant	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3630C>A	12.37:g.9227282G>T			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.S1210	ENST00000318602.7	37	c.3630	CCDS44827.1	12																																																																																			A2M	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000175899		0.567	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2		0	106	0	G	NM_000014		9227282	-1			no_errors	ENST00000318602	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	9227282	G	T	9227282	2	4	44	1	0	0	0	0	0	0	0	1	4	987	35	3		3	A2M	12	9227282	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		9227282	124624613	185	10734											
PRB4	5545	genome.wustl.edu	37	chr12	11462332	11462332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaagagagattcttcctgGctgacatctagaagagaagc	14	8	12	7	0	2	5	0	1	2	4	3	8	3	6	1	2	1	1	1	2	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:11462332G>T	ENST00000535904.1	-	2	105	c.72C>A	c.(70-72)agC>agA	p.S24R	PRB4_ENST00000279575.1_Missense_Mutation_p.S24R|PRB4_ENST00000445719.2_Missense_Mutation_p.S24R			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	24						extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATTCTTCCTGGCTGACATCTA	0.393										HNSCC(22;0.051)																																							0													175	152	160					12																	11462332		2203	4300	6503	SO:0001583	missense	0				CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.72C>A	12.37:g.11462332G>T	ENSP00000442834:p.Ser24Arg		A1L439|O00600|P02813|P10161|P10162|P81489	Missense_Mutation	SNP	NULL	p.S24R	ENST00000535904.1	37	c.72	CCDS8641.1	12	.	.	.	.	.	.	.	.	.	.	.	3.447	-0.112871	0.06881	.	.	ENSG00000230657	ENST00000279575;ENST00000535904;ENST00000445719	T;T;T	0.05025	3.51;3.51;3.51	1.11	-1.12	0.09808	.	.	.	.	.	T	0.06096	0.0158	L	0.59436	1.845	0.09310	N	1	B	0.27192	0.171	B	0.18561	0.022	T	0.35549	-0.9784	9	0.72032	D	0.01	.	2.6078	0.04882	0.2299:0.3115:0.4586:0.0	.	24	E9PAL0	.	R	24	ENSP00000279575:S24R;ENSP00000442834:S24R;ENSP00000412740:S24R	ENSP00000279575:S24R	S	-	3	2	PRB4	11353599	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.035000	0.12205	-0.421000	0.07416	-2.053000	0.00404	AGC	PRB4	-	NULL	ENSG00000230657		0.393	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB4	HGNC	protein_coding	OTTHUMT00000402308.1	-	0	86	0	G	NM_002723		11462332	-1	tier1	-	no_errors	ENST00000279575	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T	T	11462332	G	T	11462332	3	4	44	1	0	0	0	0	1	0	0	0	12487	1194	42	3	679	3	PRB4	12	11462332	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2235050	11462332	122389563	186	10735											
GUCY2C	2984	genome.wustl.edu	37	chr12	14766072	14766072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaataggtgctctccttGtctgtggtattcagctgcaa	10	14	9	8	0	3	0	1	0	2	0	4	0	3	0	1	2	3	4	1	2	6	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:14766072G>T	ENST00000261170.3	-	27	3337	c.3201C>A	c.(3199-3201)gaC>gaA	p.D1067E	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1067					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGCTCTCCTTGTCTGTGGTAT	0.438																																																	0													199	196	197					12																	14766072		2203	4300	6503	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3201C>A	12.37:g.14766072G>T	ENSP00000261170:p.Asp1067Glu		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.D1067E	ENST00000261170.3	37	c.3201	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	G	4.414	0.076493	0.08485	.	.	ENSG00000070019	ENST00000261170	D	0.81499	-1.5	5.71	2.74	0.32292	.	0.186630	0.56097	D	0.000039	T	0.72170	0.3427	L	0.55743	1.74	0.22911	N	0.998572	B	0.23591	0.088	B	0.25291	0.059	T	0.63060	-0.6721	10	0.48119	T	0.1	.	5.4628	0.16626	0.11:0.3171:0.4632:0.1097	.	1067	P25092	GUC2C_HUMAN	E	1067	ENSP00000261170:D1067E	ENSP00000261170:D1067E	D	-	3	2	GUCY2C	14657339	0.173000	0.23056	0.104000	0.21259	0.006000	0.05464	-0.375000	0.07475	1.396000	0.46663	0.655000	0.94253	GAC	GUCY2C	-	NULL	ENSG00000070019		0.438	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1		0	121	0	G			14766072	-1			no_errors	ENST00000261170	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.004	T	T	14766072	G	T	14766072	3	4	44	1	0	0	0	0	1	0	0	0	6923	1368	48	3	24	3	GUCY2C	12	14766072	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	3303740	14766072	119085823	187	10736											
C12orf69	440087	genome.wustl.edu	37	chr12	14959109	14959109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatcatatctatgccaaggCcaagaacagcaactccaata	17	7	5	12	0	2	1	1	0	1	1	3	1	3	1	3	1	4	1	3	1	9	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:14959109C>T	ENST00000316048.2	-	2	578	c.506G>A	c.(505-507)gGc>gAc	p.G169D	WBP11_ENST00000261167.2_5'Flank|C12orf60_ENST00000330828.2_Intron|C12orf60_ENST00000527783.1_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	169						integral component of membrane (GO:0016021)											TATGCCAAGGCCAAGAACAGC	0.453																																																	0													123	117	119					12																	14959109		2016	4176	6192	SO:0001583	missense	0				CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 69"	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.506G>A	12.37:g.14959109C>T	ENSP00000381895:p.Gly169Asp		Q8NAI5	Missense_Mutation	SNP	NULL	p.G169D	ENST00000316048.2	37	c.506	CCDS41759.1	12	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899140	0.52227	.	.	ENSG00000179256	ENST00000316048	T	0.16073	2.37	4.62	4.62	0.57501	.	0.391026	0.18181	U	0.149150	T	0.14141	0.0342	N	0.14661	0.345	0.30738	N	0.746493	P	0.44429	0.835	P	0.44990	0.466	T	0.02512	-1.1148	10	0.62326	D	0.03	-18.0735	13.155	0.59511	0.0:1.0:0.0:0.0	.	169	A2RU48	CL069_HUMAN	D	169	ENSP00000381895:G169D	ENSP00000381895:G169D	G	-	2	0	C12orf69	14850376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.333000	0.52090	2.544000	0.85801	0.561000	0.74099	GGC	SMCO3	-	NULL	ENSG00000179256		0.453	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCO3	HGNC	protein_coding	OTTHUMT00000394738.1		0	73	0	C	NM_001013698		14959109	-1			no_errors	ENST00000316048	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	14959109	C	T	14959109	3	4	44	1	0	0	0	0	1	0	0	0	1716	739	26	3	175	3	C12orf69	12	14959109	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	193037	14959109	118892786	188	10737											
RECQL	5965	genome.wustl.edu	37	chr12	21627896	21627896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagtacaaaatacagtctgCtttcatgtcatctcgacctg	11	13	7	10	1	4	0	2	0	2	0	5	1	4	0	1	0	3	3	1	0	5	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:21627896C>T	ENST00000444129.2	-	11	1702	c.1234G>A	c.(1234-1236)Gca>Aca	p.A412T	RECQL_ENST00000421138.2_Missense_Mutation_p.A412T	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	412	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATACAGTCTGCTTTCATGTCA	0.363								Other identified genes with known or suspected DNA repair function																																									0													111	101	104					12																	21627896		2203	4299	6502	SO:0001583	missense	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1234G>A	12.37:g.21627896C>T	ENSP00000416739:p.Ala412Thr		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.A412T	ENST00000444129.2	37	c.1234	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.373698	0.95923	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.31769	1.48;1.48	5.76	5.76	0.90799	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.65637	0.2710	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.72724	-0.4207	10	0.72032	D	0.01	-16.4283	18.157	0.89694	0.0:1.0:0.0:0.0	.	412	P46063	RECQ1_HUMAN	T	412	ENSP00000416739:A412T;ENSP00000395449:A412T	ENSP00000395449:A412T	A	-	1	0	RECQL	21519163	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.788000	0.69020	2.733000	0.93635	0.467000	0.42956	GCA	RECQL	-	superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000004700		0.363	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	-	0	23	0	C	NM_002907		21627896	-1	tier1	-	no_errors	ENST00000421138	ensembl	human	known	74_37	missense	62.79	16	27	SNP	1.000	T	T	21627896	C	T	21627896	3	4	44	1	0	0	0	0	1	0	0	0	13246	797	28	3	735	3	RECQL	12	21627896	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	6668787	21627896	112223999	189	10738											
LRRK2	120892	genome.wustl.edu	37	chr12	40716130	40716130	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcatgtaggctgtattcTtttgggccaagttgtggacc	8	14	12	7	0	2	0	1	0	1	0	2	2	2	1	2	3	0	4	2	3	4	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:40716130T>A	ENST00000298910.7	+	37	5385	c.5327T>A	c.(5326-5328)cTt>cAt	p.L1776H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1776					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTGTATTCTTTTGGGCCAA	0.378																																																	0													226	211	216					12																	40716130		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5327T>A	12.37:g.40716130T>A	ENSP00000298910:p.Leu1776His		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.L1776H	ENST00000298910.7	37	c.5327	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322910	0.81580	.	.	ENSG00000188906	ENST00000298910	T	0.77358	-1.09	5.58	5.58	0.84498	.	0.137040	0.49916	D	0.000137	D	0.86205	0.5877	M	0.71206	2.165	0.50467	D	0.999875	D;D	0.76494	0.998;0.999	P;P	0.62649	0.871;0.905	D	0.87923	0.2705	10	0.87932	D	0	.	15.7465	0.77949	0.0:0.0:0.0:1.0	.	1776;1776	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	1776	ENSP00000298910:L1776H	ENSP00000298910:L1776H	L	+	2	0	LRRK2	39002397	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.416000	0.80143	2.103000	0.63969	0.528000	0.53228	CTT	LRRK2	-	NULL	ENSG00000188906		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	84	0	T	XM_058513		40716130	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	7.69	72	6	SNP	1.000	A	A	40716130	T	A	40716130	3	1	44	1	0	0	0	0	1	0	0	0	9068	1609	56	5	5473	5	LRRK2	12	40716130	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	19088234	40716130	93135765	190	10739											
TWF1	5756	genome.wustl.edu	37	chr12	44194271	44194271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatacttcatctttaatgtgGccacctccaaattccttctt	10	16	3	12	0	3	0	1	0	2	0	5	0	5	0	4	1	1	0	4	1	4	7			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:44194271G>A	ENST00000395510.2	-	4	474	c.345C>T	c.(343-345)ggC>ggT	p.G115G	TWF1_ENST00000552521.1_Silent_p.G17G|TWF1_ENST00000325127.4_Silent_p.G149G|TWF1_ENST00000547564.1_5'Flank|TWF1_ENST00000548315.1_Silent_p.G115G	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	115	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		CTTTAATGTGGCCACCTCCAA	0.328																																																	0													163	156	159					12																	44194271		2203	4299	6502	SO:0001819	synonymous_variant	0			U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"protein tyrosine kinase 9", "PTK9 protein tyrosine kinase 9", "twinfilin, actin-binding protein, homolog 1 (Drosophila)"	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.345C>T	12.37:g.44194271G>A			A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Silent	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	p.G149	ENST00000395510.2	37	c.447	CCDS31780.2	12																																																																																			TWF1	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin	ENSG00000151239		0.328	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TWF1	HGNC	protein_coding	OTTHUMT00000403956.1	-	0	45	0	G	NM_002822		44194271	-1	tier1	-	no_errors	ENST00000325127	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.996	A	A	44194271	G	A	44194271	2	1	44	1	0	0	0	0	0	0	0	1	16830	1190	42	3		3	TWF1	12	44194271	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	3478141	44194271	89657624	191	10740											
MLL2	8085	genome.wustl.edu	37	chr12	49445673	49445673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatggtgggaacagaCgagatgcctccggtggtgga	10	8	15	8	2	1	2	1	0	0	2	2	5	2	4	2	5	2	0	2	5	2	1	rs377761041		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:49445673C>T	ENST00000301067.7	-	10	1792	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	598	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TGGGAACAGACGAGATGCCTC	0.612																																																	0								C	HIS/ARG	0,4270		0,0,2135	97	100	99		1793	2.1	0	12		99	2,8456		0,2,4227	no	missense	MLL2	NM_003482.3	29	0,2,6362	TT,TC,CC		0.0236,0.0,0.0157	possibly-damaging	598/5538	49445673	2,12726	2135	4229	6364	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1793G>A	12.37:g.49445673C>T	ENSP00000301067:p.Arg598His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R598H	ENST00000301067.7	37	c.1793	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	5.766	0.325685	0.10900	0.0	2.36E-4	ENSG00000167548	ENST00000301067	T	0.79247	-1.25	3.99	2.07	0.26955	.	.	.	.	.	T	0.53238	0.1784	N	0.08118	0	0.09310	N	1	P	0.44006	0.824	B	0.28385	0.089	T	0.45308	-0.9270	9	0.87932	D	0	.	11.8012	0.52128	0.0:0.471:0.529:0.0	.	598	O14686	MLL2_HUMAN	H	598	ENSP00000301067:R598H	ENSP00000301067:R598H	R	-	2	0	MLL2	47731940	0.002000	0.14202	0.011000	0.14972	0.784000	0.44337	0.287000	0.18920	0.597000	0.29811	0.313000	0.20887	CGT	KMT2D	-	NULL	ENSG00000167548		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	76	0	C			49445673	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.138	T	T	49445673	C	T	49445673	3	4	44	1	0	0	0	0	1	0	0	0	9659	536	19	1	15000	1	MLL2	12	49445673	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	5251402	49445673	84406222	192	10741											
BCDIN3D	144233	genome.wustl.edu	37	chr12	50236768	50236768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggaagcgagaataatgagGaaaatttccgaacggggcgg	14	6	16	5	4	0	2	0	1	0	1	1	6	1	4	1	5	2	0	1	5	6	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:50236768G>T	ENST00000333924.4	-	1	144	c.103C>A	c.(103-105)Cct>Act	p.P35T	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	35					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GAATAATGAGGAAAATTTCCG	0.627																																																	0													68	76	73					12																	50236768		2203	4300	6503	SO:0001583	missense	0				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.103C>A	12.37:g.50236768G>T	ENSP00000335201:p.Pro35Thr		A8K829	Missense_Mutation	SNP	pfam_Bin3	p.P35T	ENST00000333924.4	37	c.103	CCDS8790.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478141|3.478141	0.63849|0.63849	.|.	.|.	ENSG00000186666|ENSG00000186666	ENST00000550861|ENST00000333924	.|T	.|0.43294	.|0.95	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.100209	.|0.64402	.|D	.|0.000001	T|T	0.50377|0.50377	0.1612|0.1612	L|L	0.34521|0.34521	1.04|1.04	0.27499|0.27499	N|N	0.95205|0.95205	.|D	.|0.76494	.|0.999	.|D	.|0.64144	.|0.922	T|T	0.42361|0.42361	-0.9456|-0.9456	6|10	0.87932|0.13108	D|T	0|0.6	.|.	18.1659|18.1659	0.89727|0.89727	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|35	.|Q7Z5W3	.|BN3D2_HUMAN	L|T	27|35	.|ENSP00000335201:P35T	ENSP00000447796:F27L|ENSP00000335201:P35T	F|P	-|-	3|1	2|0	BCDIN3D|BCDIN3D	48523035|48523035	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.513000|4.513000	0.60476|0.60476	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	TTC|CCT	BCDIN3D	-	NULL	ENSG00000186666		0.627	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCDIN3D	HGNC	protein_coding	OTTHUMT00000405982.1	-	0	75	0	G	NM_181708		50236768	-1	tier1	-	no_errors	ENST00000333924	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	50236768	G	T	50236768	3	4	44	1	0	0	0	0	1	0	0	0	1358	1174	41	3	783	3	BCDIN3D	12	50236768	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	791095	50236768	83615127	193	10742											
CSAD	51380	genome.wustl.edu	37	chr12	53553458	53553458	+	Frame_Shift_Del	DEL	G	G	-																															tcctgcttccctcgcaggctGgggggtacgaaccagaaaca																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:53553458delG	ENST00000444623.1	-	16	1524	c.1257delC	c.(1255-1257)cccfs	p.P419fs	CSAD_ENST00000453446.2_Frame_Shift_Del_p.P419fs|CSAD_ENST00000267085.4_Frame_Shift_Del_p.P446fs|CSAD_ENST00000379846.1_Frame_Shift_Del_p.P272fs|CSAD_ENST00000379843.3_Frame_Shift_Del_p.P272fs|RP11-1136G11.8_ENST00000550908.1_lincRNA	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	419					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CTCGCAGGCTGGGGGGTACGA	0.537											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(109;252 1546 16882 28524 44645)												0													105	85	91					12																	53553458		2203	4300	6503	SO:0001589	frameshift_variant	0			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"P-selectin cytoplasmic tail-associated protein"					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1257delC	12.37:g.53553458delG	ENSP00000415485:p.Pro419fs	993	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Frame_Shift_Del	DEL	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.S447fs	ENST00000444623.1	37	c.1338	CCDS58235.1	12																																																																																			CSAD	-	superfamily_PyrdxlP-dep_Trfase	ENSG00000139631		0.537	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1		0	53	0	G	NM_015989		53553458	-1	tier1		no_errors	ENST00000267085	ensembl	human	known	74_37	frame_shift_del	5.77	49	3	DEL	1.000	-	-	53553458	G	-	53553458	7	5	44	1	0	1	0	1	0	0	0	0	3932	1335	47	0	232	0	CSAD	12	53553458	Frame_Shift_Del	DEL	G	TCGA-JY-A93D-01A-11D-A387-09	3316690	53553458	80298437	194	10743											
ITGA7	3679	genome.wustl.edu	37	chr12	56091595	56091595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgatgcccacagcctcGccctccagcacctagagaac	9	7	7	18	1	1	2	0	1	1	1	3	3	2	2	5	0	4	1	5	0	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:56091595G>A	ENST00000555728.1	-	10	1453	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	ITGA7_ENST00000257880.7_Silent_p.G475G|ITGA7_ENST00000257879.6_Silent_p.G431G|ITGA7_ENST00000553804.1_Silent_p.G435G|ITGA7_ENST00000347027.6_Silent_p.G431G|ITGA7_ENST00000394230.2_Silent_p.G435G|ITGA7_ENST00000452168.2_Silent_p.G338G|ITGA7_ENST00000394229.2_Silent_p.G431G			Q13683	ITA7_HUMAN	integrin, alpha 7	475					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCACAGCCTCGCCCTCCAGCA	0.612																																																	0													96	100	98					12																	56091595		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"Integrins"	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1425C>T	12.37:g.56091595G>A			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G475	ENST00000555728.1	37	c.1425		12																																																																																			ITGA7	-	NULL	ENSG00000135424		0.612	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	-	0	34	0	G	NM_002206		56091595	-1	tier1	-	no_errors	ENST00000555728	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.453	A	A	56091595	G	A	56091595	2	1	44	1	0	0	0	0	0	0	0	1	7908	1074	38	1		1	ITGA7	12	56091595	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2538137	56091595	77760300	195	10744											
PRIM1	5557	genome.wustl.edu	37	chr12	57127930	57127930	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaaaggcatagcgtcttaCcactcttcttaagaagttct	11	12	9	9	1	4	1	0	0	4	1	4	2	4	2	1	2	2	2	1	2	5	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:57127930C>T	ENST00000338193.6	-	12	1280		c.e12+1			NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TAGCGTCTTACCACTCTTCTT	0.348																																																	0													86	84	85					12																	57127930		1817	4074	5891	SO:0001630	splice_region_variant	0			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.1243+1G>A	12.37:g.57127930C>T				Splice_Site	SNP	-	e12+1	ENST00000338193.6	37	c.1243+1	CCDS44926.1	12	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036736	0.54896	.	.	ENSG00000198056	ENST00000537418;ENST00000338193	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7191	0.57131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRIM1	55414197	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.882000	0.63121	2.726000	0.93360	0.585000	0.79938	.	PRIM1	-	-	ENSG00000198056		0.348	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	-	0	33	0	C	NM_000946	Intron	57127930	-1	tier1	-	no_errors	ENST00000338193	ensembl	human	known	74_37	splice_site	8.70	42	4	SNP	1.000	T	T	57127930	C	T	57127930	5	4	44	1	0	0	0	0	0	0	1	0	12532	521	18	3	26	3	PRIM1	12	57127930	Splice_Site	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1036335	57127930	76723965	196	10745											
ANKS1B	56899	genome.wustl.edu	37	chr12	100219102	100219102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttacttatgtccatttaagGctgcgtggtgtaaagcagtg	9	14	11	7	1	0	0	0	0	0	0	1	0	1	0	1	2	3	3	1	2	5	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:100219102G>T	ENST00000547776.2	-	2	199	c.200C>A	c.(199-201)gCc>gAc	p.A67D	ANKS1B_ENST00000329257.7_Missense_Mutation_p.A67D|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	67						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCATTTAAGGCTGCGTGGTG	0.433																																																	0													75	71	72					12																	100219102		1977	4171	6148	SO:0001583	missense	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.200C>A	12.37:g.100219102G>T	ENSP00000449629:p.Ala67Asp		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.A67D	ENST00000547776.2	37	c.200	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771005	0.90108	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.69806	-0.43;-0.43;-0.43	5.5	5.5	0.81552	Ankyrin repeat-containing domain (4);	0.075720	0.53938	D	0.000045	D	0.88455	0.6441	H	0.97315	3.98	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.80764	0.948;0.994	D	0.92305	0.5853	9	.	.	.	-6.9524	17.1826	0.86858	0.0:0.0:1.0:0.0	.	67;67	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	D	67	ENSP00000449629:A67D;ENSP00000331381:A67D;ENSP00000449894:A67D	.	A	-	2	0	ANKS1B	98743233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.123000	0.89586	2.588000	0.87417	0.655000	0.94253	GCC	ANKS1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000185046		0.433	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0	65	0	G	NM_020140		100219102	-1	tier1	-	no_errors	ENST00000329257	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	100219102	G	T	100219102	3	4	44	1	0	0	0	0	1	0	0	0	689	1203	42	3	3934	3	ANKS1B	12	100219102	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	43091172	100219102	33632793	197	10746											
DAO	1610	genome.wustl.edu	37	chr12	109293195	109293195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactggcttccggccagtaCgcccccagattcggctagaa	9	7	11	14	3	0	2	0	0	0	2	2	3	1	2	4	3	2	3	4	3	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:109293195C>T	ENST00000228476.3	+	10	1060	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	DAO_ENST00000551281.1_Missense_Mutation_p.R220C	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	286					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	CCGGCCAGTACGCCCCCAGAT	0.468																																																	0													42	36	38					12																	109293195		2203	4300	6503	SO:0001583	missense	0			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.856C>T	12.37:g.109293195C>T	ENSP00000228476:p.Arg286Cys		B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.R286C	ENST00000228476.3	37	c.856	CCDS9122.1	12	.	.	.	.	.	.	.	.	.	.	c	16.06	3.014861	0.54468	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	T;T;T	0.81415	-1.49;-1.49;-1.49	5.14	5.14	0.70334	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95311	0.8412	10	0.87932	D	0	-18.7759	16.0921	0.81098	0.0:1.0:0.0:0.0	.	286;269	P14920;Q7Z312	OXDA_HUMAN;.	C	220;286;163	ENSP00000446853:R220C;ENSP00000228476:R286C;ENSP00000449967:R163C	ENSP00000228476:R286C	R	+	1	0	DAO	107817324	1.000000	0.71417	0.484000	0.27391	0.089000	0.18198	5.977000	0.70492	2.409000	0.81822	0.542000	0.68232	CGC	DAO	-	pfam_FAD-dep_OxRdtase	ENSG00000110887		0.468	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAO	HGNC	protein_coding	OTTHUMT00000403682.1		0	67	0	C			109293195	1			no_errors	ENST00000228476	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.982	T	T	109293195	C	T	109293195	3	4	44	1	0	0	0	0	1	0	0	0	4240	536	19	1	890	1	DAO	12	109293195	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	9074093	109293195	24558700	198	10747											
RPH3A	22895	genome.wustl.edu	37	chr12	113285565	113285565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaggaagcaggaagagCtgactgatgaggagaaagaa	17	3	17	4	0	0	7	0	3	0	4	0	10	0	9	0	4	2	3	0	4	4	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr12:113285565C>A	ENST00000389385.4	+	5	645	c.148C>A	c.(148-150)Ctg>Atg	p.L50M	RPH3A_ENST00000420983.2_Missense_Mutation_p.L50M|RPH3A_ENST00000551052.1_Missense_Mutation_p.L46M|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Missense_Mutation_p.L50M|RPH3A_ENST00000415485.3_Missense_Mutation_p.L50M	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	50	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCAGGAAGAGCTGACTGATGA	0.557																																																	0													92	80	84					12																	113285565		2203	4300	6503	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.148C>A	12.37:g.113285565C>A	ENSP00000374036:p.Leu50Met		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.L50M	ENST00000389385.4	37	c.148	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230631	0.79688	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.07	4.16	0.48862	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.48286	D	0.000196	D	0.90174	0.6929	M	0.81112	2.525	0.58432	D	0.999999	D;D;D	0.64830	0.994;0.994;0.993	D;D;D	0.83275	0.996;0.992;0.987	D	0.90227	0.4276	9	.	.	.	.	12.2082	0.54365	0.0:0.9149:0.0:0.0851	.	50;50;46	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	M	50;50;50;50;50;50;50;50;50;50;50;50;46;50;50;50	ENSP00000446570:L50M;ENSP00000449705:L50M;ENSP00000440384:L50M;ENSP00000446780:L50M;ENSP00000447306:L50M;ENSP00000446556:L50M;ENSP00000450382:L50M;ENSP00000449613:L50M;ENSP00000447505:L50M;ENSP00000449650:L50M;ENSP00000374036:L50M;ENSP00000447083:L50M;ENSP00000448297:L46M;ENSP00000405357:L50M;ENSP00000450216:L50M;ENSP00000408889:L50M	.	L	+	1	2	RPH3A	111769948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.233000	0.58651	2.492000	0.84095	0.655000	0.94253	CTG	RPH3A	-	pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000089169		0.557	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	-	0	39	0	C	NM_014954		113285565	1	tier1	-	no_errors	ENST00000389385	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	A	A	113285565	C	A	113285565	3	1	44	1	0	0	0	0	1	0	0	0	13596	796	28	3	158	3	RPH3A	12	113285565	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	3992370	113285565	20566330	199	10748											
MTUS2	23281	genome.wustl.edu	37	chr13	29933537	29933537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccagacagctgggcgttgCgcaaggggagctgaagaggg	10	4	19	8	2	0	3	0	1	0	2	0	5	0	4	1	4	3	4	1	4	2	1	rs201118258		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr13:29933537C>T	ENST00000431530.3	+	6	3132	c.3074C>T	c.(3073-3075)gCg>gTg	p.A1025V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1015	Localization to the growing distal tip of microtubules.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGGGCGTTGCGCAAGGGGAG	0.637																																																	0								C	VAL/ALA	1,4189		0,1,2094	22	25	24		3074	-8.9	0	13		24	1,8445		0,1,4222	yes	missense	MTUS2	NM_001033602.2	64	0,2,6316	TT,TC,CC		0.0118,0.0239,0.0158	benign	1025/1380	29933537	2,12634	2095	4223	6318	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.3074C>T	13.37:g.29933537C>T	ENSP00000392057:p.Ala1025Val		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.A1025V	ENST00000431530.3	37	c.3074	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.222020	0.00283	2.39E-4	1.18E-4	ENSG00000132938	ENST00000431530	T	0.11169	2.8	4.91	-8.92	0.00774	.	1.684160	0.03298	N	0.188627	T	0.09379	0.0231	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19418	-1.0306	9	.	.	.	.	20.687	0.99705	0.0:0.7997:0.0:0.2003	.	1015	Q5JR59	MTUS2_HUMAN	V	1025	ENSP00000392057:A1025V	.	A	+	2	0	MTUS2	28831537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.316000	0.08071	-2.214000	0.00734	-2.156000	0.00330	GCG	MTUS2	-	NULL	ENSG00000132938		0.637	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	77	0	C	XM_166270		29933537	1	tier1	rs201118258	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	21.31	48	13	SNP	0.000	T	T	29933537	C	T	29933537	3	4	44	1	0	0	0	0	1	0	0	0	10004	768	27	1	3096	1	MTUS2	13	29933537	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09		29933537	85236341	200	10749											
MYCBP2	23077	genome.wustl.edu	37	chr13	77740653	77740653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacactgagggtcaaattCgattgtcatccacctcacac	12	9	6	14	1	3	1	3	1	0	0	5	2	4	1	3	1	0	0	3	1	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr13:77740653C>T	ENST00000544440.2	-	41	6054	c.6037G>A	c.(6037-6039)Gaa>Aaa	p.E2013K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E2013K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.E2051K					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGGTCAAATTCGATTGTCATC	0.413																																																	0													120	112	115					13																	77740653		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6037G>A	13.37:g.77740653C>T	ENSP00000444596:p.Glu2013Lys			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E2051K	ENST00000544440.2	37	c.6151		13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953810	0.92660	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.32988	1.43;1.43;1.43	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.54854	0.1884	M	0.61703	1.905	0.80722	D	1	D	0.63046	0.992	D	0.65443	0.935	T	0.54200	-0.8329	10	0.87932	D	0	.	20.0221	0.97508	0.0:1.0:0.0:0.0	.	2013	O75592	MYCB2_HUMAN	K	2013;2051;2013	ENSP00000349892:E2013K;ENSP00000384288:E2051K;ENSP00000444596:E2013K	ENSP00000349892:E2013K	E	-	1	0	MYCBP2	76638654	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.818000	0.86416	2.732000	0.93576	0.650000	0.86243	GAA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.413	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1		0	24	0	C	NM_015057		77740653	-1			no_errors	ENST00000407578	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	77740653	C	T	77740653	3	4	44	1	0	0	0	0	1	0	0	0	10056	893	31	1	8057	1	MYCBP2	13	77740653	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	47807116	77740653	37429225	201	10750											
SCEL	8796	genome.wustl.edu	37	chr13	78146268	78146268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcttaacaggcagtcctgGtttccaccgccccctccagg	6	11	8	16	1	1	0	0	0	1	0	4	0	4	0	6	3	1	2	6	3	1	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr13:78146268G>T	ENST00000349847.3	+	9	573	c.489G>T	c.(487-489)tgG>tgT	p.W163C	SCEL_ENST00000377246.3_Missense_Mutation_p.W163C|SCEL_ENST00000535157.1_Intron	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	163					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GGCAGTCCTGGTTTCCACCGC	0.463																																																	0													143	112	123					13																	78146268		2203	4300	6503	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.489G>T	13.37:g.78146268G>T	ENSP00000302579:p.Trp163Cys		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.W163C	ENST00000349847.3	37	c.489	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400264	0.62177	.	.	ENSG00000136155	ENST00000348770;ENST00000377246;ENST00000349847	T;T	0.26518	1.73;1.73	5.16	5.16	0.70880	.	0.000000	0.53938	D	0.000048	T	0.49795	0.1578	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49370	-0.8947	10	0.66056	D	0.02	-6.5435	14.0055	0.64461	0.0:0.0:1.0:0.0	.	163;163	O95171-2;O95171	.;SCEL_HUMAN	C	140;163;163	ENSP00000366454:W163C;ENSP00000302579:W163C	ENSP00000315127:W140C	W	+	3	0	SCEL	77044269	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.235000	0.58666	2.675000	0.91044	0.655000	0.94253	TGG	SCEL	-	NULL	ENSG00000136155		0.463	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	-	0	37	0	G	NM_144777		78146268	1	tier1	-	no_errors	ENST00000349847	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	78146268	G	T	78146268	3	4	44	1	0	0	0	0	1	0	0	0	13933	1270	44	3	519	3	SCEL	13	78146268	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	405615	78146268	37023610	202	10751											
RNF219	79596	genome.wustl.edu	37	chr13	79190358	79190358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttcaaaagagcgaataGaattcaaccttttggataaa	17	12	6	6	1	3	2	3	0	0	2	3	4	3	3	1	1	2	0	1	1	8	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr13:79190358G>T	ENST00000282003.6	-	6	1596	c.1538C>A	c.(1537-1539)tCt>tAt	p.S513Y	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	513	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AGAGCGAATAGAATTCAACCT	0.378																																																	0													90	93	92					13																	79190358		2203	4300	6503	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"RING-type (C3HC4) zinc fingers"	20308	protein-coding gene	gene with protein product		615906	"chromosome 13 open reading frame 7"	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1538C>A	13.37:g.79190358G>T	ENSP00000282003:p.Ser513Tyr		B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.S513Y	ENST00000282003.6	37	c.1538	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441541	0.43326	.	.	ENSG00000152193	ENST00000282003	T	0.15718	2.4	5.86	4.09	0.47781	.	0.187507	0.38492	N	0.001673	T	0.21718	0.0523	L	0.47716	1.5	0.24464	N	0.994429	P	0.46395	0.877	P	0.45037	0.467	T	0.03993	-1.0986	10	0.72032	D	0.01	-12.7766	15.2222	0.73320	0.0:0.2321:0.7679:0.0	.	513	Q5W0B1	RN219_HUMAN	Y	513	ENSP00000282003:S513Y	ENSP00000282003:S513Y	S	-	2	0	RNF219	78088359	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.457000	0.53007	0.772000	0.33382	0.655000	0.94253	TCT	RNF219	-	NULL	ENSG00000152193		0.378	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1		0	20	0	G	NM_024546		79190358	-1			no_errors	ENST00000282003	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.999	T	T	79190358	G	T	79190358	3	4	44	1	0	0	0	0	1	0	0	0	13527	942	33	3	646	3	RNF219	13	79190358	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1044090	79190358	35979520	203	10752											
SLC39A2	29986	genome.wustl.edu	37	chr14	21467630	21467630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaactactaggaataaaaCttggctgcctgtttgccctg	11	11	9	10	0	0	0	0	0	0	0	0	1	0	1	2	2	6	3	2	2	6	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr14:21467630C>A	ENST00000298681.4	+	1	182	c.25C>A	c.(25-27)Ctt>Att	p.L9I	SLC39A2_ENST00000554422.1_Missense_Mutation_p.L9I|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	9					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.L9fs*34(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGGAATAAAACTTGGCTGCCT	0.507																																																	1	Deletion - Frameshift(1)	breast(1)											163	130	141					14																	21467630		2203	4300	6503	SO:0001583	missense	0			AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"Solute carriers"	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.25C>A	14.37:g.21467630C>A	ENSP00000298681:p.Leu9Ile		B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	pfam_ZIP	p.L9I	ENST00000298681.4	37	c.25	CCDS9563.1	14	.	.	.	.	.	.	.	.	.	.	C	1.245	-0.620362	0.03636	.	.	ENSG00000165794	ENST00000554422;ENST00000298681	T;T	0.49432	0.78;0.78	5.27	-6.09	0.02145	.	0.537335	0.19532	N	0.112006	T	0.13372	0.0324	N	0.01576	-0.805	0.20196	N	0.999925	B	0.06786	0.001	B	0.08055	0.003	T	0.28522	-1.0041	10	0.02654	T	1	-0.0138	12.079	0.53659	0.1792:0.6794:0.1413:0.0	.	9	Q9NP94	S39A2_HUMAN	I	9	ENSP00000452568:L9I;ENSP00000298681:L9I	ENSP00000298681:L9I	L	+	1	0	SLC39A2	20537470	0.916000	0.31088	0.014000	0.15608	0.935000	0.57460	-0.067000	0.11579	-1.317000	0.02292	-1.028000	0.02416	CTT	SLC39A2	-	pfam_ZIP	ENSG00000165794		0.507	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A2	HGNC	protein_coding	OTTHUMT00000073829.2		0	71	0	C	NM_014579		21467630	1			no_errors	ENST00000298681	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.501	A	A	21467630	C	A	21467630	3	1	44	1	0	0	0	0	1	0	0	0	14663	565	20	3	27	3	SLC39A2	14	21467630	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09		21467630	85881910	204	10753											
TXNDC16	57544	genome.wustl.edu	37	chr14	52899225	52899225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaactttcctagtgccacGttgagatgttgcggcatcta	8	12	12	9	2	1	1	0	1	1	1	2	3	2	2	2	2	3	3	2	2	3	5	rs367573078		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr14:52899225G>A	ENST00000281741.4	-	21	2646	c.2275C>T	c.(2275-2277)Cgt>Tgt	p.R759C		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	759					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTAGTGCCACGTTGAGATGTT	0.403																																																	0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	73	71	71		2260,2275	1.3	0	14		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TXNDC16	NM_001160047.1,NM_020784.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	754/821,759/826	52899225	1,13005	2203	4300	6503	SO:0001583	missense	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.2275C>T	14.37:g.52899225G>A	ENSP00000281741:p.Arg759Cys		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.R759C	ENST00000281741.4	37	c.2275	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	G	5.119	0.207629	0.09704	0.0	1.16E-4	ENSG00000087301	ENST00000281741	T	0.18657	2.2	5.42	1.26	0.21427	.	1.072050	0.07145	N	0.848091	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B;B	0.28998	0.034;0.23	B;B	0.27796	0.003;0.083	T	0.31613	-0.9937	10	0.41790	T	0.15	-31.323	5.5121	0.16886	0.2332:0.2943:0.4725:0.0	.	754;759	B7ZME4;Q9P2K2	.;TXD16_HUMAN	C	759	ENSP00000281741:R759C	ENSP00000281741:R759C	R	-	1	0	TXNDC16	51968975	0.003000	0.15002	0.007000	0.13788	0.126000	0.20510	1.483000	0.35497	0.755000	0.32990	0.644000	0.83932	CGT	TXNDC16	-	NULL	ENSG00000087301		0.403	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	-	0	57	0	G	XM_051699		52899225	-1	tier1	-	no_errors	ENST00000281741	ensembl	human	known	74_37	missense	20.00	35	9	SNP	0.000	A	A	52899225	G	A	52899225	3	1	44	1	0	0	0	0	1	0	0	0	16844	1145	40	1	206	1	TXNDC16	14	52899225	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	31431595	52899225	54450315	205	10754											
DCAF4	26094	genome.wustl.edu	37	chr14	73423169	73423169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaatgagtacgcctacctgCccctgcatgtgcacgaggaa	10	8	11	12	2	0	2	0	2	0	0	0	4	0	3	4	1	5	3	4	1	4	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr14:73423169C>T	ENST00000358377.2	+	13	1475	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	DCAF4_ENST00000353777.3_Missense_Mutation_p.P249S|DCAF4_ENST00000555042.1_Missense_Mutation_p.P413S|DCAF4_ENST00000509153.1_Missense_Mutation_p.P359S|DCAF4_ENST00000553457.1_Missense_Mutation_p.P319S|DCAF4_ENST00000394234.2_Missense_Mutation_p.P319S	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	419					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CGCCTACCTGCCCCTGCATGT	0.562																																																	0													96	57	71					14																	73423169		2203	4300	6503	SO:0001583	missense	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1255C>T	14.37:g.73423169C>T	ENSP00000351147:p.Pro419Ser		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P419S	ENST00000358377.2	37	c.1255	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572961	0.86542	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.70164	-0.46;0.16;0.16;0.16;0.16;0.16	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.77820	2.39	0.58432	D	0.999999	P;P;D;D;P;D	0.61697	0.589;0.952;0.972;0.972;0.883;0.99	B;P;D;D;P;P	0.64506	0.347;0.878;0.926;0.926;0.621;0.904	T	0.75133	-0.3425	10	0.02654	T	1	.	18.7308	0.91734	0.0:1.0:0.0:0.0	.	359;398;419;413;249;419	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	S	419;249;319;359;413;319	ENSP00000351147:P419S;ENSP00000345176:P249S;ENSP00000377781:P319S;ENSP00000426178:P359S;ENSP00000452131:P413S;ENSP00000451186:P319S	ENSP00000345176:P249S	P	+	1	0	DCAF4	72492922	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.487000	0.81328	2.429000	0.82318	0.462000	0.41574	CCC	DCAF4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000119599		0.562	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1	-	0	67	0	C	NM_015604		73423169	1	tier1	-	no_errors	ENST00000358377	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	73423169	C	T	73423169	3	4	44	1	0	0	0	0	1	0	0	0	4279	739	26	3	1304	3	DCAF4	14	73423169	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	20523944	73423169	33926371	206	10755											
ANGEL1	23357	genome.wustl.edu	37	chr14	77256975	77256975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctgttcccattctcacAggactcagctgagaagaaga	12	10	9	10	0	3	3	2	1	2	3	5	5	4	4	1	1	1	3	1	1	2	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr14:77256975A>G	ENST00000251089.2	-	9	1943	c.1831T>C	c.(1831-1833)Tgt>Cgt	p.C611R	ANGEL1_ENST00000557179.1_Missense_Mutation_p.C176R	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	611										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CCATTCTCACAGGACTCAGCT	0.527																																																	0													128	109	115					14																	77256975		2203	4300	6503	SO:0001583	missense	0			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.1831T>C	14.37:g.77256975A>G	ENSP00000251089:p.Cys611Arg		B4DWL7|O94859|Q8NCS9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.C611R	ENST00000251089.2	37	c.1831	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	A	1.884	-0.457099	0.04540	.	.	ENSG00000013523	ENST00000251089;ENST00000557179	T;T	0.79749	1.63;-1.3	5.76	5.76	0.90799	Endonuclease/exonuclease/phosphatase (2);	1.292320	0.04541	N	0.388193	T	0.61714	0.2369	N	0.03608	-0.345	0.25093	N	0.990847	B	0.02656	0.0	B	0.06405	0.002	T	0.54282	-0.8317	10	0.10377	T	0.69	-0.1375	8.2724	0.31853	0.7348:0.1352:0.0:0.1299	.	611	Q9UNK9	ANGE1_HUMAN	R	611;176	ENSP00000251089:C611R;ENSP00000451534:C176R	ENSP00000251089:C611R	C	-	1	0	ANGEL1	76326728	0.137000	0.22531	0.827000	0.32855	0.305000	0.27757	1.550000	0.36223	2.223000	0.72356	0.454000	0.30748	TGT	ANGEL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000013523		0.527	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	HGNC	protein_coding	OTTHUMT00000413712.2		0	40	0	A	NM_015305		77256975	-1			no_errors	ENST00000251089	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.354	G	G	77256975	A	G	77256975	3	3	44	1	0	0	0	0	1	0	0	0	608	188	7	4	189	4	ANGEL1	14	77256975	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	3833806	77256975	30092565	207	10756											
FLRT2	23768	genome.wustl.edu	37	chr14	86089572	86089572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgcacaaaaaggggcgcTacacctcccagaagtggaaa	16	5	10	10	1	0	1	0	0	0	1	1	2	1	2	2	3	2	2	2	3	6	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr14:86089572T>C	ENST00000330753.4	+	2	2481	c.1714T>C	c.(1714-1716)Tac>Cac	p.Y572H	FLRT2_ENST00000554746.1_Missense_Mutation_p.Y572H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	572					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAAGGGGCGCTACACCTCCCA	0.557																																																	0													76	82	80					14																	86089572		2203	4300	6503	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1714T>C	14.37:g.86089572T>C	ENSP00000332879:p.Tyr572His		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.Y572H	ENST00000330753.4	37	c.1714	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036760	0.54896	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55930	0.49;0.49	6.17	6.17	0.99709	.	0.132994	0.53938	D	0.000057	T	0.42223	0.1193	N	0.22421	0.69	0.36716	D	0.88092	P	0.52316	0.952	B	0.42692	0.395	T	0.46062	-0.9218	10	0.24483	T	0.36	-23.1501	16.8222	0.85835	0.0:0.0:0.0:1.0	.	572	O43155	FLRT2_HUMAN	H	572;572;225	ENSP00000332879:Y572H;ENSP00000451050:Y572H	ENSP00000332879:Y572H	Y	+	1	0	FLRT2	85159325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.020000	0.64066	2.371000	0.80710	0.533000	0.62120	TAC	FLRT2	-	NULL	ENSG00000185070		0.557	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0	21	0	T			86089572	1	tier1	-	no_errors	ENST00000330753	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	C	C	86089572	T	C	86089572	3	2	44	1	0	0	0	0	1	0	0	0	5961	1522	53	4	1716	4	FLRT2	14	86089572	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	8832597	86089572	21259968	208	10757											
ASPG	374569	genome.wustl.edu	37	chr14	104561907	104561907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggctttgtggtcatccacGgcaccgacaccatggccttt	7	10	10	14	3	1	0	1	0	0	0	2	1	2	0	4	4	0	2	4	4	0	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr14:104561907G>T	ENST00000551177.1	+	4	435	c.343G>T	c.(343-345)Ggc>Tgc	p.G115C	ASPG_ENST00000455920.2_Missense_Mutation_p.G115C|ASPG_ENST00000546892.2_Missense_Mutation_p.G115C	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	115	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGTCATCCACGGCACCGACAC	0.627																																																	0													75	81	79					14																	104561907		2166	4256	6422	SO:0001583	missense	0				CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"Ankyrin repeat domain containing"	20123	protein-coding gene	gene with protein product	"60-kDa-lysophospholipase"		"chromosome 14 open reading frame 76", "asparaginase homolog (S. cerevisiae)"	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.343G>T	14.37:g.104561907G>T	ENSP00000450040:p.Gly115Cys		B9EGQ2|Q8IV80	Missense_Mutation	SNP	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI	p.G115C	ENST00000551177.1	37	c.343	CCDS45170.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.491910|4.491910	0.84962|0.84962	.|.	.|.	ENSG00000166183|ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920|ENST00000551170	T;T;T|.	0.81330|.	-1.48;-1.48;-1.48|.	4.26|4.26	4.26|4.26	0.50523|0.50523	Asparaginase/glutaminase, conserved site (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87974|0.87974	0.6313|0.6313	H|H	0.97340|0.97340	3.985|3.985	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.92572|0.92572	0.6067|0.6067	10|5	0.87932|.	D|.	0|.	-34.7374|-34.7374	15.8003|15.8003	0.78450|0.78450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	115;115;115;143|.	G3V1Y8;Q86U10;Q86U10-3;E5RFC2|.	.;LPP60_HUMAN;.;.|.	C|L	115;143;115;115|51	ENSP00000450040:G115C;ENSP00000448911:G115C;ENSP00000389003:G115C|.	ENSP00000299234:G143C|.	G|R	+|+	1|2	0|0	ASPG|ASPG	103631660|103631660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	5.848000|5.848000	0.69458|0.69458	2.070000|2.070000	0.61991|0.61991	0.555000|0.555000	0.69702|0.69702	GGC|CGG	ASPG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,prints_Asparaginase/glutaminase,tigrfam_AsnASEI	ENSG00000166183		0.627	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	HGNC	protein_coding	OTTHUMT00000407005.1	-	0	69	0	G	NM_001080464		104561907	1	tier1	-	no_errors	ENST00000455920	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T	T	104561907	G	T	104561907	3	4	44	1	0	0	0	0	1	0	0	0	1053	1116	39	2	357	2	ASPG	14	104561907	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	18472335	104561907	2787633	209	10758											
GOLGA8A	23015	genome.wustl.edu	37	chr15	34673778	34673778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcttctccttgtgcaGgctccacgctgttggtgagg	3	12	13	13	1	1	1	0	1	1	0	3	1	2	1	3	4	1	5	3	4	0	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr15:34673778G>C	ENST00000359187.4	-	16	1710	c.1646C>G	c.(1645-1647)cCt>cGt	p.P549R	MIR1233-1_ENST00000408722.1_RNA|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.P549R|GOLGA8A_ENST00000543376.1_Missense_Mutation_p.P406R|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.P579R	NM_181077.3	NP_851422.1	A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	577	Golgi-targeting domain. {ECO:0000250}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TCCTTGTGCAGGCTCCACGCT	0.622																																																	0													38	33	35					15																	34673778		2199	4291	6490	SO:0001583	missense	0			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 8A"			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000359187.4:c.1646C>G	15.37:g.34673778G>C	ENSP00000352111:p.Pro549Arg		A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.P579R	ENST00000359187.4	37	c.1736	CCDS10038.1	15	.	.	.	.	.	.	.	.	.	.	g	9.271	1.045716	0.19748	.	.	ENSG00000175265	ENST00000359187;ENST00000360553;ENST00000432566;ENST00000543376	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	0.514	0.514	0.17007	.	.	.	.	.	T	0.44787	0.1310	M	0.75150	2.29	0.09310	N	1	D;D	0.55385	0.971;0.971	P;P	0.56042	0.79;0.79	T	0.28202	-1.0051	8	0.87932	D	0	.	.	.	.	.	549;577	A7E2F4-3;A7E2F4	.;GOG8A_HUMAN	R	549;549;579;406	ENSP00000352111:P549R;ENSP00000353755:P549R;ENSP00000402791:P579R;ENSP00000438613:P406R	ENSP00000352111:P549R	P	-	2	0	GOLGA8A	32461070	0.533000	0.26354	0.020000	0.16555	0.029000	0.11900	2.017000	0.40981	0.540000	0.28808	0.398000	0.26397	CCT	GOLGA8A	-	NULL	ENSG00000175265		0.622	GOLGA8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA8A	HGNC	protein_coding	OTTHUMT00000251830.2	-	0	173	0	G	NM_181076		34673778	-1	tier1	-	no_errors	ENST00000432566	ensembl	human	known	74_37	missense	27.12	86	32	SNP	0.020	C	C	34673778	G	C	34673778	3	2	44	1	0	0	0	0	1	0	0	0	6589	1000	35	5	169	5	GOLGA8A	15	34673778	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		34673778	67857614	210	10759											
PPP1R14D	54866	genome.wustl.edu	37	chr15	41120652	41120652	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcgctggagctggcccCggtcatacttcactgtcagg	6	8	13	14	2	3	0	3	0	0	0	3	1	3	1	3	4	3	2	3	4	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr15:41120652C>A	ENST00000299174.5	-	1	255	c.188G>T	c.(187-189)cGg>cTg	p.R63L	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63L	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAGCTGGCCCCGGTCATACTT	0.592																																																	0													71	73	72					15																	41120652		2203	4300	6503	SO:0001583	missense	0			AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14953	protein-coding gene	gene with protein product	"gut and brain phosphatase inhibitor 1", "PKC-dependent PP1 inhibitory protein"	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.188G>T	15.37:g.41120652C>A	ENSP00000299174:p.Arg63Leu		Q4V773	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.R63L	ENST00000299174.5	37	c.188	CCDS10066.1	15	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380270	0.42207	.	.	ENSG00000166143	ENST00000299174;ENST00000427255	.	.	.	5.58	-0.197	0.13228	.	0.462653	0.18342	N	0.144154	T	0.54515	0.1863	M	0.69358	2.11	0.32805	D	0.50065	B;B	0.15930	0.015;0.011	B;B	0.20184	0.013;0.028	T	0.61357	-0.7079	9	0.52906	T	0.07	-6.0977	13.858	0.63542	0.6671:0.3329:0.0:0.0	.	63;63	E9PAT1;Q9NXH3	.;PP14D_HUMAN	L	63	.	ENSP00000299174:R63L	R	-	2	0	PPP1R14D	38907944	0.005000	0.15991	0.985000	0.45067	0.773000	0.43773	-0.309000	0.08145	0.009000	0.14813	-0.188000	0.12872	CGG	PPP1R14D	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	ENSG00000166143		0.592	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14D	HGNC	protein_coding	OTTHUMT00000252355.2	-	0	78	0	C	NM_017726		41120652	-1	tier1	-	no_errors	ENST00000427255	ensembl	human	known	74_37	missense	21.15	41	11	SNP	0.987	A	A	41120652	C	A	41120652	3	1	44	1	0	0	0	0	1	0	0	0	12404	652	23	2	434	2	PPP1R14D	15	41120652	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	6446874	41120652	61410740	211	10760											
ZFP106	64397	genome.wustl.edu	37	chr15	42730815	42730815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacagcaaatacctgaaGaattctttgatccttttatg	13	14	6	8	0	1	4	0	3	1	1	2	4	2	4	2	0	3	1	2	0	6	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr15:42730815G>T	ENST00000263805.4	-	9	4852	c.4526C>A	c.(4525-4527)tCt>tAt	p.S1509Y	ZNF106_ENST00000565380.1_Missense_Mutation_p.S737Y|ZNF106_ENST00000565611.1_Missense_Mutation_p.S694Y	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1509				S -> P (in Ref. 2; BAG63952). {ECO:0000305}.	insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AATACCTGAAGAATTCTTTGA	0.338																																																	0													61	60	60					15																	42730815		2203	4299	6502	SO:0001583	missense	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"Zinc fingers, C2H2-type"	12886	protein-coding gene	gene with protein product	"SH3-domain binding protein 3"		"zinc finger protein 106 homolog (mouse)"	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4526C>A	15.37:g.42730815G>T	ENSP00000263805:p.Ser1509Tyr		B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1509Y	ENST00000263805.4	37	c.4526	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917066	0.73098	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.58797	0.31	4.93	4.93	0.64822	.	0.153281	0.56097	D	0.000030	T	0.72374	0.3452	L	0.56769	1.78	0.48762	D	0.999708	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.994	T	0.74520	-0.3638	10	0.66056	D	0.02	-13.132	15.4324	0.75112	0.0:0.0:1.0:0.0	.	737;1509	E9PE29;Q9H2Y7	.;ZF106_HUMAN	Y	1509;737	ENSP00000263805:S1509Y	ENSP00000263805:S1509Y	S	-	2	0	ZFP106	40518107	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.367000	0.59498	2.552000	0.86080	0.650000	0.86243	TCT	ZNF106	-	NULL	ENSG00000103994		0.338	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF106	HGNC	protein_coding	OTTHUMT00000422587.1		0	33	0	G	NM_022473		42730815	-1			no_errors	ENST00000263805	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	42730815	G	T	42730815	3	4	44	1	0	0	0	0	1	0	0	0	17685	942	33	3	1169	3	ZFP106	15	42730815	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1610163	42730815	59800577	212	10761											
TRPM7	54822	genome.wustl.edu	37	chr15	50925097	50925097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcatgcactccatcagtGtttgaaataaatgaagtgct	12	15	7	7	0	2	2	2	2	0	0	3	2	3	2	1	0	2	3	1	0	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr15:50925097G>T	ENST00000313478.7	-	9	1381	c.1100C>A	c.(1099-1101)aCa>aAa	p.T367K	TRPM7_ENST00000560955.1_Missense_Mutation_p.T367K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	367					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTCCATCAGTGTTTGAAATAA	0.343																																																	0													104	94	97					15																	50925097		1804	4066	5870	SO:0001583	missense	0			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1100C>A	15.37:g.50925097G>T	ENSP00000320239:p.Thr367Lys		Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.T367K	ENST00000313478.7	37	c.1100	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667212	0.47677	.	.	ENSG00000092439	ENST00000313478	T	0.24151	1.87	5.29	5.29	0.74685	.	0.115086	0.64402	D	0.000015	T	0.19886	0.0478	N	0.14661	0.345	0.52501	D	0.999953	P	0.50156	0.932	B	0.42030	0.373	T	0.03453	-1.1035	10	0.56958	D	0.05	-21.367	19.126	0.93384	0.0:0.0:1.0:0.0	.	367	Q96QT4	TRPM7_HUMAN	K	367	ENSP00000320239:T367K	ENSP00000320239:T367K	T	-	2	0	TRPM7	48712389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.412000	0.59787	2.746000	0.94184	0.591000	0.81541	ACA	TRPM7	-	NULL	ENSG00000092439		0.343	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	-	0	67	0	G	NM_017672		50925097	-1	tier1	-	no_errors	ENST00000313478	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	50925097	G	T	50925097	3	4	44	1	0	0	0	0	1	0	0	0	16639	1377	48	3	4621	3	TRPM7	15	50925097	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	8194282	50925097	51606295	213	10762											
DPP8	54878	genome.wustl.edu	37	chr15	65756200	65756200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgtaaatccagtagtacTttcaaaagagaaaatttctg	17	12	6	6	0	2	1	1	0	1	1	3	2	3	1	1	0	1	3	1	0	9	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr15:65756200T>C	ENST00000341861.5	-	15	3498	c.1918A>G	c.(1918-1920)Agt>Ggt	p.S640G	DPP8_ENST00000321147.6_Missense_Mutation_p.S640G|DPP8_ENST00000321118.7_Missense_Mutation_p.S640G|DPP8_ENST00000300141.6_Missense_Mutation_p.S624G|DPP8_ENST00000358939.4_Missense_Mutation_p.S624G|DPP8_ENST00000339244.5_Missense_Mutation_p.S467G|DPP8_ENST00000559233.1_Missense_Mutation_p.S640G	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	640					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCAGTAGTACTTTCAAAAGAG	0.398																																																	0													85	84	84					15																	65756200		2201	4299	6500	SO:0001583	missense	0			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"dipeptidyl peptidase VIII", "dipeptidyl peptidase IV-related protein-1", "prolyl dipeptidase DPP8"	606819	"dipeptidylpeptidase 8"			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.1918A>G	15.37:g.65756200T>C	ENSP00000339208:p.Ser640Gly		Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.S640G	ENST00000341861.5	37	c.1918	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598240	0.46318	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	L	0.28504	0.86	0.46356	D	0.999005	B;B;P;B;B	0.41450	0.047;0.044;0.75;0.044;0.026	B;B;P;B;B	0.45310	0.028;0.03;0.476;0.03;0.013	T	0.21999	-1.0229	10	0.42905	T	0.14	-16.4446	16.0502	0.80755	0.0:0.0:0.0:1.0	.	467;624;624;640;640	C9JSG1;Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;.;DPP8_HUMAN	G	640;624;624;640;640;467;640	ENSP00000339208:S640G;ENSP00000351817:S624G;ENSP00000300141:S624G;ENSP00000318111:S640G;ENSP00000316373:S640G;ENSP00000341230:S467G;ENSP00000379013:S640G	ENSP00000300141:S624G	S	-	1	0	DPP8	63543253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.773000	0.68898	2.197000	0.70478	0.528000	0.53228	AGT	DPP8	-	NULL	ENSG00000074603		0.398	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	-	0	35	0	T	NM_017743		65756200	-1	tier1	-	no_errors	ENST00000341861	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	65756200	T	C	65756200	3	2	44	1	0	0	0	0	1	0	0	0	4746	1609	56	4	802	4	DPP8	15	65756200	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	14831103	65756200	36775192	214	10763											
LINGO1	84894	genome.wustl.edu	37	chr15	77907463	77907463	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagggacgtcaggttgagGccgtagaggcagttgggtgt	8	8	19	6	2	1	2	1	1	0	1	1	4	1	3	1	5	0	4	1	5	1	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr15:77907463G>T	ENST00000355300.6	-	2	960	c.786C>A	c.(784-786)ggC>ggA	p.G262G	LINGO1_ENST00000561030.1_Silent_p.G256G	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	262					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TCAGGTTGAGGCCGTAGAGGC	0.582																																																	0													131	136	134					15																	77907463		2187	4286	6473	SO:0001819	synonymous_variant	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.786C>A	15.37:g.77907463G>T			D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G262	ENST00000355300.6	37	c.786	CCDS45313.1	15																																																																																			LINGO1	-	NULL	ENSG00000169783		0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	-	0	87	0	G	NM_032808		77907463	-1	tier1	-	no_errors	ENST00000355300	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T	T	77907463	G	T	77907463	2	4	44	1	0	0	0	0	0	0	0	1	8844	1190	42	3		3	LINGO1	15	77907463	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	12151263	77907463	24623929	215	10764											
CLCN7	1186	genome.wustl.edu	37	chr16	1498746	1498746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcacactctgcagctGaatgtgcatgtcgtacaggc	10	8	13	10	1	1	1	0	1	1	0	2	2	1	1	0	2	4	5	0	2	3	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:1498746G>T	ENST00000382745.4	-	20	2424	c.1819C>A	c.(1819-1821)Cag>Aag	p.Q607K	CLCN7_ENST00000448525.1_Missense_Mutation_p.Q583K|CLCN7_ENST00000262318.8_Missense_Mutation_p.Q583K|LA16c-390E6.5_ENST00000566287.1_RNA	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	607					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTCTGCAGCTGAATGTGCATG	0.677																																																	0													74	76	75					16																	1498746		2197	4300	6497	SO:0001583	missense	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1819C>A	16.37:g.1498746G>T	ENSP00000372193:p.Gln607Lys		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.Q607K	ENST00000382745.4	37	c.1819	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	G	9.154	1.017066	0.19355	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.92545	-3.06;-3.06	5.27	5.27	0.74061	Chloride channel, core (2);	0.049108	0.85682	D	0.000000	T	0.79986	0.4541	N	0.04508	-0.205	0.54753	D	0.999982	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.002;0.001;0.004	T	0.75068	-0.3448	10	0.08599	T	0.76	-37.1228	12.542	0.56177	0.0:0.0:0.8333:0.1667	.	583;607;56	E9PDB9;P51798;B3KUD9	.;CLCN7_HUMAN;.	K	583;560;607;549	ENSP00000410907:Q583K;ENSP00000372193:Q607K	ENSP00000262318:Q560K	Q	-	1	0	CLCN7	1438747	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.752000	0.68728	2.451000	0.82905	0.561000	0.74099	CAG	CLCN7	-	superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000103249		0.677	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0	121	0	G	NM_001287		1498746	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	1498746	G	T	1498746	3	4	44	1	0	0	0	0	1	0	0	0	3475	1299	45	3	622	3	CLCN7	16	1498746	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		1498746	88856007	216	10765											
ZNF205	7755	genome.wustl.edu	37	chr16	3168964	3168964	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggcaagggtgaggcctcGggctccagccggcaggcagg	7	3	18	13	3	0	1	0	1	0	0	2	1	1	1	3	7	1	4	3	7	1	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:3168964G>A	ENST00000382192.3	+	6	748	c.543G>A	c.(541-543)tcG>tcA	p.S181S	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.S181S|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	181	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GTGAGGCCTCGGGCTCCAGCC	0.672																																																	0													56	67	63					16																	3168964		2196	4300	6496	SO:0001819	synonymous_variant	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.543G>A	16.37:g.3168964G>A			A8MZK0|D3DUB4|Q9BU95	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S181	ENST00000382192.3	37	c.543	CCDS10494.2	16																																																																																			ZNF205	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000122386		0.672	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	-	0	69	0	G	NM_003456		3168964	1	tier1	-	no_errors	ENST00000219091	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.000	A	A	3168964	G	A	3168964	2	1	44	1	0	0	0	0	0	0	0	1	17812	1103	39	1		1	ZNF205	16	3168964	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1670218	3168964	87185789	217	10766											
SCNN1G	6340	genome.wustl.edu	37	chr16	23205507	23205507	+	Frame_Shift_Del	DEL	C	C	-																															cataggaatttcacgcttttCcaccacccgatgcatgggaa																								rs1126943		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:23205507delC	ENST00000300061.2	+	5	968	c.825delC	c.(823-825)ttcfs	p.F275fs	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	275					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCACGCTTTTCCACCACCCGA	0.488																																																	0													113	107	109					16																	23205507		2197	4300	6497	SO:0001589	frameshift_variant	0			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.825delC	16.37:g.23205507delC	ENSP00000300061:p.Phe275fs		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Frame_Shift_Del	DEL	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.H276fs	ENST00000300061.2	37	c.825	CCDS10608.1	16																																																																																			SCNN1G	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000166828		0.488	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1		0	17	0	C	NM_001039		23205507	1	tier1		no_errors	ENST00000300061	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	1.000	-	-	23205507	C	-	23205507	7	5	44	1	0	1	0	1	0	0	0	0	13975	854	30	0	839	0	SCNN1G	16	23205507	Frame_Shift_Del	DEL	C	TCGA-JY-A93D-01A-11D-A387-09	20036543	23205507	67149246	218	10767											
PALB2	79728	genome.wustl.edu	37	chr16	23646351	23646351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttctaccaggtgcttGggcaactgccttcctagaca	8	12	9	12	0	2	1	0	0	2	1	3	1	3	1	3	2	4	3	3	2	4	6			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:23646351G>T	ENST00000261584.4	-	4	1668	c.1516C>A	c.(1516-1518)Caa>Aaa	p.Q506K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	506	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CCAGGTGCTTGGGCAACTGCC	0.463			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia N, breast cancer susceptibility "	16	16p12.1	79728	partner and localizer of BRCA2		"L, O, E"	0													154	150	151					16																	23646351		2197	4300	6497	SO:0001583	missense	0				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"Fanconi anemia, complementation groups"	26144	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group N"	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1516C>A	16.37:g.23646351G>T	ENSP00000261584:p.Gln506Lys		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.Q506K	ENST00000261584.4	37	c.1516	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796531	0.31777	.	.	ENSG00000083093	ENST00000261584	T	0.14893	2.47	5.67	2.09	0.27110	.	0.543382	0.17861	N	0.159517	T	0.10637	0.0260	L	0.29908	0.895	0.09310	N	1	B	0.19583	0.037	B	0.18561	0.022	T	0.33904	-0.9850	10	0.07482	T	0.82	-1.5659	11.3015	0.49309	0.0:0.0:0.439:0.561	.	506	Q86YC2	PALB2_HUMAN	K	506	ENSP00000261584:Q506K	ENSP00000261584:Q506K	Q	-	1	0	PALB2	23553852	0.045000	0.20229	0.002000	0.10522	0.086000	0.17979	1.890000	0.39728	0.819000	0.34492	0.655000	0.94253	CAA	PALB2	-	NULL	ENSG00000083093		0.463	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	-	0	91	0	G	NM_024675		23646351	-1	tier1	-	no_errors	ENST00000261584	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	23646351	G	T	23646351	3	4	44	1	0	0	0	0	1	0	0	0	11445	1357	47	3	2084	3	PALB2	16	23646351	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	440844	23646351	66708402	219	10768											
RBBP6	5930	genome.wustl.edu	37	chr16	24582975	24582975	+	Frame_Shift_Del	DEL	A	A	-																															aaaaaggaacaggagattccAaaaaaagtaattctagtccc																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:24582975delA	ENST00000319715.4	+	18	5020	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K691fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1497fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1531	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGAGATTCCAAAAAAAGTAA	0.373																																																	0													38	37	37					16																	24582975		2197	4297	6494	SO:0001589	frameshift_variant	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4588delA	16.37:g.24582975delA	ENSP00000317872:p.Lys1531fs		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Del	DEL	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.S1532fs	ENST00000319715.4	37	c.4588	CCDS10621.1	16																																																																																			RBBP6	-	NULL	ENSG00000122257		0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2		0	31	0	A	NM_006910		24582975	1	tier1		no_errors	ENST00000319715	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.967	-	-	24582975	A	-	24582975	7	5	44	1	0	1	0	1	0	0	0	0	13148	131	5	0	4712	0	RBBP6	16	24582975	Frame_Shift_Del	DEL	A	TCGA-JY-A93D-01A-11D-A387-09	936624	24582975	65771778	220	10769											
COG4	25839	genome.wustl.edu	37	chr16	70551549	70551549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggccaggtcaagctgacGaactttgctggacacattct	9	11	10	11	1	2	1	1	1	1	0	2	3	2	2	1	3	3	2	1	3	2	3	rs149620212	byFrequency	TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:70551549G>A	ENST00000323786.5	-	3	370	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	COG4_ENST00000564653.1_Missense_Mutation_p.R117C|COG4_ENST00000393612.4_Missense_Mutation_p.R113C	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	113	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.R117C(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCAAGCTGACGAACTTTGCTG	0.458													g|||	2	0.000399361	0	0.0014	5008	,	,		15606	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)							CYS/ARG,CYS/ARG	0,4396		0,0,2198	137	121	126		349,349	5.3	1	16	dbSNP_134	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	COG4	NM_001195139.1,NM_015386.2	180,180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	117/769,117/790	70551549	1,12995	2198	4300	6498	SO:0001583	missense	0			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.349C>T	16.37:g.70551549G>A	ENSP00000315775:p.Arg117Cys		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.R117C	ENST00000323786.5	37	c.349	CCDS10892.2	16	.	.	.	.	.	.	.	.	.	.	g	20.6	4.015934	0.75161	0.0	1.16E-4	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	T;T;T	0.47869	0.83;0.83;0.83	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.77365	-0.2615	10	0.87932	D	0	-5.2429	19.0495	0.93038	0.0:0.0:1.0:0.0	.	112;113	Q6PIW8;Q9H9E3	.;COG4_HUMAN	C	117;113;113;40	ENSP00000315775:R117C;ENSP00000377236:R113C;ENSP00000461912:R40C	ENSP00000315775:R117C	R	-	1	0	COG4	69109050	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.144000	0.58057	2.496000	0.84212	0.450000	0.29827	CGT	COG4	-	NULL	ENSG00000103051		0.458	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3	-	0	31	0	G			70551549	-1	tier1	rs149620212	no_errors	ENST00000323786	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	A	A	70551549	G	A	70551549	3	1	44	1	0	0	0	0	1	0	0	0	3667	1058	37	1	2088	1	COG4	16	70551549	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	45968574	70551549	19803204	221	10770											
AP1G1	164	genome.wustl.edu	37	chr16	71784219	71784219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggggactgcatcatcaCgaacataacttcctgcctaa	13	10	7	11	1	2	0	2	0	0	0	3	2	3	1	2	2	4	1	2	2	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:71784219C>T	ENST00000299980.4	-	14	1742	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	AP1G1_ENST00000423132.2_Missense_Mutation_p.R437H|AP1G1_ENST00000564155.1_5'Flank|AP1G1_ENST00000433195.2_Missense_Mutation_p.R457H|AP1G1_ENST00000569748.1_Missense_Mutation_p.R434H|AP1G1_ENST00000393512.3_Missense_Mutation_p.R437H	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	434					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TGCATCATCACGAACATAACT	0.373																																																	0													118	115	116					16																	71784219		2198	4300	6498	SO:0001583	missense	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1301G>A	16.37:g.71784219C>T	ENSP00000299980:p.Arg434His		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.R457H	ENST00000299980.4	37	c.1370	CCDS32480.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.600149	0.96614	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	5.18	5.18	0.71444	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.68765	0.919;0.919;0.96	T	0.58736	-0.7584	10	0.59425	D	0.04	-8.216	18.6902	0.91580	0.0:1.0:0.0:0.0	.	434;457;437	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	H	434;437;437;457;519	ENSP00000299980:R434H;ENSP00000377148:R437H;ENSP00000409153:R437H;ENSP00000403259:R457H	ENSP00000299980:R434H	R	-	2	0	AP1G1	70341720	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.451000	0.80668	2.414000	0.81942	0.462000	0.41574	CGT	AP1G1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu	ENSG00000166747		0.373	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1	-	0	59	0	C			71784219	-1	tier1	-	no_errors	ENST00000433195	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	71784219	C	T	71784219	3	4	44	1	0	0	0	0	1	0	0	0	732	536	19	1	1207	1	AP1G1	16	71784219	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1232670	71784219	18570534	222	10771											
MLKL	197259	genome.wustl.edu	37	chr16	74716588	74716588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccaggactaggaccatgCgcttgccaagtgtgaggtct	8	8	12	13	1	1	1	0	1	1	0	1	3	1	3	4	3	2	1	4	3	2	2	rs201073938		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:74716588C>T	ENST00000308807.7	-	6	1380	c.917G>A	c.(916-918)cGc>cAc	p.R306H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TAGGACCATGCGCTTGCCAAG	0.562													C|||	1	0.000199681	0	0	5008	,	,		19379	0		0.001	False		,,,				2504	0																0													103	93	97					16																	74716588		2198	4300	6498	SO:0001583	missense	0			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.917G>A	16.37:g.74716588C>T	ENSP00000308351:p.Arg306His			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R306H	ENST00000308807.7	37	c.917	CCDS32487.1	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.30	3.594268	0.66219	.	.	ENSG00000168404	ENST00000308807	D	0.94232	-3.38	4.7	4.7	0.59300	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052669	0.64402	D	0.000001	D	0.97117	0.9058	M	0.92555	3.32	0.19300	N	0.999972	D	0.89917	1.0	D	0.70227	0.968	D	0.92051	0.5648	10	0.66056	D	0.02	-13.4717	13.8398	0.63432	0.0:1.0:0.0:0.0	.	306	Q8NB16	MLKL_HUMAN	H	306	ENSP00000308351:R306H	ENSP00000308351:R306H	R	-	2	0	MLKL	73274089	0.755000	0.28372	0.051000	0.19133	0.002000	0.02628	2.250000	0.43178	2.544000	0.85801	0.508000	0.49915	CGC	MLKL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000168404		0.562	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	HGNC	protein_coding	OTTHUMT00000436403.3		0	50	0	C	NM_152649		74716588	-1			no_errors	ENST00000308807	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.127	T	T	74716588	C	T	74716588	3	4	44	1	0	0	0	0	1	0	0	0	9657	768	27	1	553	1	MLKL	16	74716588	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2932369	74716588	15638165	223	10772											
ZFPM1	161882	genome.wustl.edu	37	chr16	88594569	88594569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagagcccacgtgccCggcccctgcacacgacctcc	7	3	10	21	3	0	1	0	0	0	1	1	2	1	1	7	1	4	2	7	1	0	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr16:88594569C>T	ENST00000319555.3	+	6	957	c.635C>T	c.(634-636)cCg>cTg	p.P212L	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	212					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCACGTGCCCGGCCCCTGCA	0.701																																					Pancreas(49;850 1106 29641 32847 38344)												0													18	21	20					16																	88594569		2175	4290	6465	SO:0001583	missense	0			AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	19762	protein-coding gene	gene with protein product		601950	"zinc finger protein, multitype 1"				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.635C>T	16.37:g.88594569C>T	ENSP00000326630:p.Pro212Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P212L	ENST00000319555.3	37	c.635	CCDS32502.1	16	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118440	0.37339	.	.	ENSG00000179588	ENST00000319555	T	0.08807	3.05	4.11	-5.68	0.02436	.	0.360209	0.28209	N	0.016182	T	0.05090	0.0136	L	0.33485	1.01	0.24435	N	0.994552	B	0.18310	0.027	B	0.10450	0.005	T	0.14337	-1.0476	10	0.46703	T	0.11	0.0023	8.4812	0.33043	0.1334:0.7224:0.0:0.1442	.	212	Q8IX07	FOG1_HUMAN	L	212	ENSP00000326630:P212L	ENSP00000326630:P212L	P	+	2	0	ZFPM1	87122070	0.345000	0.24835	0.000000	0.03702	0.018000	0.09664	0.978000	0.29488	-1.564000	0.01678	0.313000	0.20887	CCG	ZFPM1	-	NULL	ENSG00000179588		0.701	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM1	HGNC	protein_coding	OTTHUMT00000422270.2		0	84	0	C			88594569	1			no_errors	ENST00000319555	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.112	T	T	88594569	C	T	88594569	3	4	44	1	0	0	0	0	1	0	0	0	17705	652	23	1	657	1	ZFPM1	16	88594569	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	13877981	88594569	1760184	224	10773											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2808623	2808623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgcgaccctcccagaccgGccgctctcccctcctctcac	5	7	7	22	3	2	1	1	0	2	1	6	3	4	1	7	1	1	1	7	1	0	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:2808623G>A	ENST00000254695.8	+	3	216	c.126G>A	c.(124-126)cgG>cgA	p.R42R	RAP1GAP2_ENST00000366401.4_Silent_p.R42R|RAP1GAP2_ENST00000542807.1_Silent_p.R42R|RAP1GAP2_ENST00000540393.2_Silent_p.R23R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	42					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCCAGACCGGCCGCTCTCCC	0.617																																																	0													30	35	34					17																	2808623		2002	4145	6147	SO:0001819	synonymous_variant	0			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.126G>A	17.37:g.2808623G>A			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.R42	ENST00000254695.8	37	c.126	CCDS45573.1	17																																																																																			RAP1GAP2	-	NULL	ENSG00000132359		0.617	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0	88	0	G			2808623	1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.999	A	A	2808623	G	A	2808623	2	1	44	1	0	0	0	0	0	0	0	1	13083	1190	42	3		3	RAP1GAP2	17	2808623	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		2808623	78386587	225	10774											
ZFP3	124961	genome.wustl.edu	37	chr17	4995060	4995060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgagaaagaccgggaGaataatgagagtgagagagg	17	5	16	3	1	1	6	1	3	0	5	1	10	1	6	1	2	0	0	1	2	4	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:4995060G>T	ENST00000318833.3	+	2	597	c.261G>T	c.(259-261)gaG>gaT	p.E87D		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E87D(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						AAGACCGGGAGAATAATGAGA	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)											53	54	54					17																	4995060		2203	4300	6503	SO:0001583	missense	0			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"Zinc fingers, C2H2-type"	12861	protein-coding gene	gene with protein product		194480	"zinc finger protein homologous to Zfp-3 in mouse", "zinc finger protein 3 homolog (mouse)"				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.261G>T	17.37:g.4995060G>T	ENSP00000320347:p.Glu87Asp		A5PLL4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E87D	ENST00000318833.3	37	c.261	CCDS11067.1	17	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496579	0.26861	.	.	ENSG00000180787	ENST00000318833	T	0.10099	2.91	3.82	0.744	0.18353	.	0.254913	0.20437	N	0.092347	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.16289	0.015	T	0.33624	-0.9861	10	0.59425	D	0.04	-6.5521	5.6756	0.17747	0.3481:0.0:0.6519:0.0	.	87	Q96NJ6	ZFP3_HUMAN	D	87	ENSP00000320347:E87D	ENSP00000320347:E87D	E	+	3	2	ZFP3	4935784	0.000000	0.05858	0.005000	0.12908	0.044000	0.14063	-0.070000	0.11523	0.218000	0.20820	0.563000	0.77884	GAG	ZFP3	-	NULL	ENSG00000180787		0.473	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP3	HGNC	protein_coding	OTTHUMT00000438979.1		0	34	0	G	NM_153018		4995060	1			no_errors	ENST00000318833	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.013	T	T	4995060	G	T	4995060	3	4	44	1	0	0	0	0	1	0	0	0	17691	933	33	3	263	3	ZFP3	17	4995060	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2186437	4995060	76200150	226	10775											
AMAC1L3	643664	genome.wustl.edu	37	chr17	7386176	7386176	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcattccgaggtggtGgtggcccttatactgcagta	6	12	13	10	1	0	0	0	0	0	0	2	1	2	0	3	4	3	3	3	4	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:7386176G>C	ENST00000412468.2	+	2	988	c.873G>C	c.(871-873)gtG>gtC	p.V291V	ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank|POLR2A_ENST00000322644.6_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	291	EamA 2.					integral component of membrane (GO:0016021)											CCGAGGTGGTGGTGGCCCTTA	0.582																																																	0													197	182	187					17																	7386176		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"Solute carriers"	31351	protein-coding gene	gene with protein product			"transmembrane protein 21B", "acyl-malonyl condensing enzyme 1-like 3"	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.873G>C	17.37:g.7386176G>C				Silent	SNP	pfam_DMT	p.V291	ENST00000412468.2	37	c.873	CCDS45603.1	17																																																																																			SLC35G6	-	pfam_DMT	ENSG00000259224		0.582	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G6	HGNC	protein_coding		-	0	189	0	G	NM_001102614		7386176	1	tier1	-	no_errors	ENST00000412468	ensembl	human	known	74_37	silent	30.00	126	54	SNP	1.000	C	C	7386176	G	C	7386176	2	2	44	1	0	0	0	0	0	0	0	1	561	1335	47	5		5	AMAC1L3	17	7386176	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2391116	7386176	73809034	227	10776											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	66	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	A	A	7577539	G	A	7577539	3	1	44	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	191363	7577539	73617671	228	10777											
CCDC144NL	339184	genome.wustl.edu	37	chr17	20799142	20799142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctaaggcgccctcaccGtgcttgctctcgctgccgac	4	10	11	16	4	3	0	1	0	2	0	4	1	3	0	3	2	3	3	3	2	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:20799142G>A	ENST00000327925.5	-	1	311	c.192C>T	c.(190-192)caC>caT	p.H64H	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RNU6-1178P_ENST00000516674.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	64										large_intestine(3)|lung(3)|skin(1)	7						CGCCCTCACCGTGCTTGCTCT	0.652																																																	0													75	84	81					17																	20799142		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.192C>T	17.37:g.20799142G>A				Silent	SNP	NULL	p.H64	ENST00000327925.5	37	c.192	CCDS32591.1	17																																																																																			CCDC144NL	-	NULL	ENSG00000205212		0.652	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC144NL	HGNC	protein_coding	OTTHUMT00000255361.2	-	0	86	0	G	NM_001004306		20799142	-1	tier1	-	no_errors	ENST00000327925	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.000	A	A	20799142	G	A	20799142	2	1	44	1	0	0	0	0	0	0	0	1	2786	1136	40	1		1	CCDC144NL	17	20799142	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	13221603	20799142	60396068	229	10778											
MLLT6	4302	genome.wustl.edu	37	chr17	36873150	36873150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggttccctggtcagctccGgcctgggaggtctgtcctcc	3	10	14	14	1	2	0	1	0	1	0	6	2	6	1	5	5	1	2	5	5	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:36873150G>A	ENST00000325718.7	+	10	1658	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S	MIR4726_ENST00000577947.1_RNA|CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	523					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGTCAGCTCCGGCCTGGGAGG	0.657			T	MLL	AL																																			Dom	yes		17	17q21	4302	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"		L	0													24	24	24					17																	36873150		2203	4300	6503	SO:0001583	missense	0				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"Zinc fingers, PHD-type"	7138	protein-coding gene	gene with protein product	"Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6", "trithorax homolog"	600328	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.1567G>A	17.37:g.36873150G>A	ENSP00000316426:p.Gly523Ser		Q59F28|Q96IU3|Q9H5F6|Q9UF49	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G523S	ENST00000325718.7	37	c.1567	CCDS11327.1	17	.	.	.	.	.	.	.	.	.	.	G	10.64	1.408393	0.25378	.	.	ENSG00000108292	ENST00000325718	T	0.12569	2.67	5.17	4.18	0.49190	.	0.472205	0.23086	N	0.052091	T	0.06188	0.0160	N	0.10809	0.05	0.40585	D	0.981431	B	0.18166	0.026	B	0.10450	0.005	T	0.13953	-1.0490	10	0.02654	T	1	.	11.8109	0.52181	0.0868:0.0:0.9132:0.0	.	523	P55198	AF17_HUMAN	S	523	ENSP00000316426:G523S	ENSP00000316426:G523S	G	+	1	0	MLLT6	34126676	0.998000	0.40836	0.976000	0.42696	0.985000	0.73830	3.291000	0.51764	2.700000	0.92200	0.561000	0.74099	GGC	MLLT6	-	NULL	ENSG00000108292		0.657	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT6	HGNC	protein_coding	OTTHUMT00000256799.1	-	0	96	0	G	NM_005937		36873150	1	tier1	-	no_errors	ENST00000325718	ensembl	human	known	74_37	missense	9.23	59	6	SNP	0.943	A	A	36873150	G	A	36873150	3	1	44	1	0	0	0	0	1	0	0	0	9668	1116	39	1	1605	1	MLLT6	17	36873150	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	16074008	36873150	44322060	230	10779											
CDC6	990	genome.wustl.edu	37	chr17	38449839	38449839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgggaaggacatgatGaggaaattggaaaaacatat	17	7	12	5	0	0	2	0	2	0	0	0	6	0	6	1	4	2	1	1	4	5	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:38449839G>T	ENST00000209728.4	+	5	1263	c.792G>T	c.(790-792)atG>atT	p.M264I		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	264					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AGGACATGATGAGGAAATTGG	0.473																																																	0													94	86	89					17																	38449839		2203	4300	6503	SO:0001583	missense	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.792G>T	17.37:g.38449839G>T	ENSP00000209728:p.Met264Ile		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.M264I	ENST00000209728.4	37	c.792	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756650	0.31137	.	.	ENSG00000094804	ENST00000209728	T	0.54866	0.55	6.17	5.2	0.72013	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.279534	0.44902	D	0.000418	T	0.26231	0.0640	N	0.03154	-0.405	0.32649	N	0.519663	B	0.02656	0.0	B	0.06405	0.002	T	0.14755	-1.0461	10	0.52906	T	0.07	-13.3699	5.9945	0.19487	0.0735:0.133:0.6561:0.1375	.	264	Q99741	CDC6_HUMAN	I	264	ENSP00000209728:M264I	ENSP00000209728:M264I	M	+	3	0	CDC6	35703365	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.725000	0.38074	2.941000	0.99782	0.655000	0.94253	ATG	CDC6	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	ENSG00000094804		0.473	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	-	0	76	0	G			38449839	1	tier1	-	no_errors	ENST00000209728	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	38449839	G	T	38449839	3	4	44	1	0	0	0	0	1	0	0	0	3090	1290	45	3	806	3	CDC6	17	38449839	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1576689	38449839	42745371	231	10780											
KRT13	3860	genome.wustl.edu	37	chr17	39659587	39659587	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttcattcaggctctcGatctgcatctccaggtcagt	7	13	8	13	1	7	0	3	0	4	0	9	1	7	0	1	2	2	3	1	2	0	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:39659587G>T	ENST00000246635.3	-	3	733	c.687C>A	c.(685-687)atC>atA	p.I229I	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Silent_p.I229I|KRT13_ENST00000336861.3_Silent_p.I229I|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	229	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.I229I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCAGGCTCTCGATCTGCATCT	0.577																																																	1	Substitution - coding silent(1)	large_intestine(1)											128	125	126					17																	39659587		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.687C>A	17.37:g.39659587G>T			Q53G54|Q6AZK5|Q8N240	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.I229	ENST00000246635.3	37	c.687	CCDS11396.1	17																																																																																			KRT13	-	pfam_IF,superfamily_Prefoldin	ENSG00000171401		0.577	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1		0	84	0	G	NM_153490		39659587	-1			no_errors	ENST00000246635	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.870	T	T	39659587	G	T	39659587	2	4	44	1	0	0	0	0	0	0	0	1	8477	1048	37	2		2	KRT13	17	39659587	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1209748	39659587	41535623	232	10781											
DBF4B	80174	genome.wustl.edu	37	chr17	42828478	42828478	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgcaggacccattcccCgaacctcacatccgtgtacc	10	7	6	18	2	1	0	1	0	0	0	3	2	3	1	6	1	4	2	6	1	3	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:42828478C>A	ENST00000315005.3	+	14	1843	c.1705C>A	c.(1705-1707)Cga>Aga	p.R569R	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	569					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACCCATTCCCCGAACCTCACA	0.557																																																	0													132	110	117					17																	42828478		2203	4300	6503	SO:0001819	synonymous_variant	0			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"Zinc fingers, DBF-type"	17883	protein-coding gene	gene with protein product	"chiffon homolog B (Drosophila)", "zinc finger, DBF-type containing 1B"	611661	"DBF4 homolog B (S. cerevisiae)"			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1705C>A	17.37:g.42828478C>A			D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.R569	ENST00000315005.3	37	c.1705	CCDS11485.1	17																																																																																			DBF4B	-	NULL	ENSG00000161692		0.557	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DBF4B	HGNC	protein_coding	OTTHUMT00000385930.1		0	69	0	C	NM_025104		42828478	1			no_errors	ENST00000315005	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.000	A	A	42828478	C	A	42828478	2	1	44	1	0	0	0	0	0	0	0	1	4258	644	23	2		2	DBF4B	17	42828478	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	3168891	42828478	38366732	233	10782											
CCDC103	388389	genome.wustl.edu	37	chr17	42979018	42979018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtggccactgaaatctccCcggtaggtgaggccctgccc	7	8	12	14	1	1	2	0	2	1	0	2	2	1	2	5	4	1	1	5	4	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:42979018C>A	ENST00000417826.2	+	3	369	c.274C>A	c.(274-276)Ccg>Acg	p.P92T	CCDC103_ENST00000410027.1_Missense_Mutation_p.P92T|CCDC103_ENST00000410006.2_Missense_Mutation_p.P92T|EFTUD2_ENST00000591382.1_5'Flank|EFTUD2_ENST00000426333.2_5'Flank|EFTUD2_ENST00000402521.3_5'Flank|FAM187A_ENST00000331733.4_5'UTR|AC015936.3_ENST00000441312.1_RNA|FAM187A_ENST00000412523.2_Intron|EFTUD2_ENST00000592576.1_5'Flank	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	92					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAAATCTCCCCGGTAGGTGA	0.468																																																	0													94	81	85					17																	42979018		2203	4300	6503	SO:0001583	missense	0			AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.274C>A	17.37:g.42979018C>A	ENSP00000391692:p.Pro92Thr		A8K145|B8ZZU0	Missense_Mutation	SNP	NULL	p.P92T	ENST00000417826.2	37	c.274	CCDS11490.1	17	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765068	0.31228	.	.	ENSG00000167131	ENST00000357776;ENST00000410027;ENST00000417826;ENST00000410006	T;T;T	0.78003	-1.13;-1.14;-1.14	5.63	5.63	0.86233	.	0.749130	0.11298	U	0.578574	T	0.63850	0.2546	N	0.19112	0.55	0.27697	N	0.945905	B	0.23937	0.094	B	0.15870	0.014	T	0.47661	-0.9100	10	0.12430	T	0.62	-13.4064	13.6245	0.62157	0.1547:0.8453:0.0:0.0	.	92	Q8IW40	CC103_HUMAN	T	92	ENSP00000350420:P92T;ENSP00000391692:P92T;ENSP00000387252:P92T	ENSP00000350420:P92T	P	+	1	0	CCDC103	40334544	0.685000	0.27652	0.077000	0.20336	0.787000	0.44495	2.502000	0.45398	2.676000	0.91093	0.555000	0.69702	CCG	CCDC103	-	NULL	ENSG00000167131		0.468	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC103	HGNC	protein_coding	OTTHUMT00000334578.1		0	69	0	C	NM_213607		42979018	1			no_errors	ENST00000410006	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.652	A	A	42979018	C	A	42979018	3	1	44	1	0	0	0	0	1	0	0	0	2745	623	22	3	280	3	CCDC103	17	42979018	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	150540	42979018	38216192	234	10783											
SP6	80320	genome.wustl.edu	37	chr17	45925508	45925508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgtgacatgtccggctgCaggagcttggaaaaggggcc	8	8	17	8	1	0	1	0	1	0	0	1	3	1	3	2	6	2	3	2	6	2	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:45925508C>T	ENST00000536300.1	-	2	619	c.288G>A	c.(286-288)ctG>ctA	p.L96L	SP6_ENST00000342234.2_Silent_p.L96L	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	96					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						TGTCCGGCTGCAGGAGCTTGG	0.642																																																	0													29	29	29					17																	45925508		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	14530	protein-coding gene	gene with protein product	"epiprofin"	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.288G>A	17.37:g.45925508C>T			B3KXS4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L96	ENST00000536300.1	37	c.288	CCDS11520.1	17																																																																																			SP6	-	NULL	ENSG00000189120		0.642	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	-	0	44	0	C	NM_199262		45925508	-1	tier1	-	no_errors	ENST00000342234	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T	T	45925508	C	T	45925508	2	4	44	1	0	0	0	0	0	0	0	1	15013	697	25	3		3	SP6	17	45925508	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2946490	45925508	35269702	235	10784											
BZRAP1	9256	genome.wustl.edu	37	chr17	56385999	56385999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgtgggtagggcttggggCctgaattggccttcggaggc	4	9	20	8	2	0	1	0	1	0	0	1	2	0	2	2	8	0	2	2	8	2	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:56385999C>T	ENST00000343736.4	-	22	4797	c.4634G>A	c.(4633-4635)gGc>gAc	p.G1545D	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1485D|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1545D			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1545						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCTTGGGGCCTGAATTGGC	0.677																																																	0													30	32	32					17																	56385999		2201	4300	6501	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4634G>A	17.37:g.56385999C>T	ENSP00000345824:p.Gly1545Asp		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.G1545D	ENST00000343736.4	37	c.4634	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050643	0.55218	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04809	3.56;3.55;3.56	5.26	1.28	0.21552	.	1.040040	0.07463	N	0.900925	T	0.08179	0.0204	L	0.27053	0.805	0.22989	N	0.99847	B;D;D	0.69078	0.18;0.997;0.996	B;D;P	0.63283	0.082;0.913;0.881	T	0.41088	-0.9528	10	0.29301	T	0.29	.	3.6941	0.08357	0.2392:0.4481:0.2284:0.0844	.	1545;1485;1545	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	D	1545;1545;1485	ENSP00000347929:G1545D;ENSP00000345824:G1545D;ENSP00000268893:G1485D	ENSP00000268893:G1485D	G	-	2	0	BZRAP1	53740998	0.927000	0.31430	0.822000	0.32727	0.898000	0.52572	0.736000	0.26130	0.601000	0.29879	0.455000	0.32223	GGC	BZRAP1	-	NULL	ENSG00000005379		0.677	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1		0	87	0	C	NM_004758		56385999	-1			no_errors	ENST00000355701	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.336	T	T	56385999	C	T	56385999	3	4	44	1	0	0	0	0	1	0	0	0	1581	739	26	3	979	3	BZRAP1	17	56385999	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	10460491	56385999	24809211	236	10785											
BZRAP1	9256	genome.wustl.edu	37	chr17	56387907	56387907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcccagaccctgggtctCctccttggcacatctcggta	6	10	9	16	1	3	1	1	0	2	1	6	1	4	1	4	3	1	2	4	3	1	2	rs201358584		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:56387907C>A	ENST00000343736.4	-	20	3828	c.3665G>T	c.(3664-3666)gGa>gTa	p.G1222V	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1162V|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1222V			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1222						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTGGGTCTCCTCCTTGGCA	0.637																																																	0													42	48	46					17																	56387907		2201	4298	6499	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3665G>T	17.37:g.56387907C>A	ENSP00000345824:p.Gly1222Val		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.G1222V	ENST00000343736.4	37	c.3665	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946651	0.92593	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	D;D;D	0.86497	-2.13;-2.13;-2.13	5.49	5.49	0.81192	.	0.358158	0.28877	N	0.013842	D	0.91290	0.7254	L	0.59436	1.845	0.52501	D	0.999953	D;D;P	0.89917	1.0;0.97;0.855	D;P;P	0.72075	0.976;0.74;0.448	D	0.89383	0.3683	10	0.30854	T	0.27	.	14.876	0.70493	0.0:1.0:0.0:0.0	.	1222;1162;1222	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	V	1222;1222;1162	ENSP00000347929:G1222V;ENSP00000345824:G1222V;ENSP00000268893:G1162V	ENSP00000268893:G1162V	G	-	2	0	BZRAP1	53742906	0.936000	0.31750	0.945000	0.38365	0.459000	0.32528	1.640000	0.37186	2.588000	0.87417	0.462000	0.41574	GGA	BZRAP1	-	NULL	ENSG00000005379		0.637	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0	58	0	C	NM_004758		56387907	-1	tier1	rs201358584	no_errors	ENST00000355701	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.965	A	A	56387907	C	A	56387907	3	1	44	1	0	0	0	0	1	0	0	0	1581	855	30	3	1956	3	BZRAP1	17	56387907	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1908	56387907	24807303	237	10786											
LLGL2	3993	genome.wustl.edu	37	chr17	73552199	73552199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcatcctggccatcGgcacccgttctggagccatc	5	8	10	18	3	1	0	0	0	1	0	4	1	2	1	5	3	2	3	5	3	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:73552199G>A	ENST00000392550.3	+	3	265	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	LLGL2_ENST00000167462.5_Missense_Mutation_p.G50S|LLGL2_ENST00000578363.1_Missense_Mutation_p.G50S|LLGL2_ENST00000577200.1_Missense_Mutation_p.G50S|LLGL2_ENST00000375227.4_Missense_Mutation_p.G50S	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	50					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGGCCATCGGCACCCGTTC	0.662																																																	0													77	62	67					17																	73552199		2203	4300	6503	SO:0001583	missense	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.148G>A	17.37:g.73552199G>A	ENSP00000376333:p.Gly50Ser		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.G50S	ENST00000392550.3	37	c.148	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654790	0.47467	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227	T;T;T	0.70631	1.28;1.28;-0.5	4.68	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82802	0.5116	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.999;0.982;0.999	P;P;D	0.64237	0.866;0.545;0.923	D	0.85227	0.1030	10	0.66056	D	0.02	-16.2036	17.7752	0.88505	0.0:0.0:1.0:0.0	.	50;50;50	Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;L2GL2_HUMAN;.	S	50	ENSP00000167462:G50S;ENSP00000376333:G50S;ENSP00000364375:G50S	ENSP00000167462:G50S	G	+	1	0	LLGL2	71063794	1.000000	0.71417	0.994000	0.49952	0.262000	0.26303	9.595000	0.98260	2.431000	0.82371	0.563000	0.77884	GGC	LLGL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000073350		0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	-	0	177	0	G	NM_004524		73552199	1	tier1	-	no_errors	ENST00000392550	ensembl	human	known	74_37	missense	6.54	200	14	SNP	1.000	A	A	73552199	G	A	73552199	3	1	44	1	0	0	0	0	1	0	0	0	8864	1116	39	1	154	1	LLGL2	17	73552199	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	17164292	73552199	7643011	238	10787											
RECQL5	9400	genome.wustl.edu	37	chr17	73626918	73626918	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaggggacagttctcatCtgtggggggggggggtggtc	4	11	20	6	0	3	0	2	0	2	0	5	1	3	1	0	9	0	1	0	9	0	2	rs142406301		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr17:73626918C>G	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000443199.2_Splice_Site|SMIM5_ENST00000375215.3_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGG	0.647								Other identified genes with known or suspected DNA repair function																																									1	Unknown(1)	upper_aerodigestive_tract(1)											9	12	11					17																	73626918		1796	4036	5832	SO:0001630	splice_region_variant	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1586-1G>C	17.37:g.73626918C>G			Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	SNP	-	e11-1	ENST00000317905.5	37	c.1586-1	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112969	0.77210	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.24	0.93877	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RECQL5	71138513	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.501000	0.73691	2.539000	0.85634	0.563000	0.77884	.	RECQL5	-	-	ENSG00000108469		0.647	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1		0	38	0	C	NM_004259	Intron	73626918	-1			no_errors	ENST00000317905	ensembl	human	known	74_37	splice_site	8.33	32	3	SNP	1.000	G	G	73626918	C	G	73626918	5	3	44	1	0	0	0	0	0	0	1	0	13248	927	32	5	1426	5	RECQL5	17	73626918	Splice_Site	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	74719	73626918	7568292	239	10788											
TCF4	6925	genome.wustl.edu	37	chr18	53017614	53017614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggcaaacctggaggaacTtttcgaactttctttgtctg	9	14	10	8	1	2	0	0	0	2	0	3	4	2	2	1	3	3	1	1	3	3	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr18:53017614T>C	ENST00000356073.4	-	8	1136	c.525A>G	c.(523-525)aaA>aaG	p.K175K	TCF4_ENST00000568673.1_Silent_p.K151K|TCF4_ENST00000565018.2_Silent_p.K175K|TCF4_ENST00000564228.1_Silent_p.K104K|TCF4_ENST00000570177.2_Silent_p.K45K|TCF4_ENST00000566286.1_Silent_p.K173K|TCF4_ENST00000561992.1_Silent_p.K45K|TCF4_ENST00000544241.2_Silent_p.K104K|TCF4_ENST00000568740.1_Silent_p.K150K|TCF4_ENST00000543082.1_Silent_p.K133K|TCF4_ENST00000537578.1_Silent_p.K151K|TCF4_ENST00000564999.1_Silent_p.K175K|TCF4_ENST00000398339.1_Silent_p.K277K|TCF4_ENST00000564403.2_Silent_p.K175K|TCF4_ENST00000354452.3_Silent_p.K175K|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000540999.1_Silent_p.K151K|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000537856.3_Silent_p.K45K	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	175					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTGGAGGAACTTTTCGAACTT	0.368																																																	0													145	125	132					18																	53017614		2203	4300	6503	SO:0001819	synonymous_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.525A>G	18.37:g.53017614T>C			B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.K277	ENST00000356073.4	37	c.831	CCDS11960.1	18																																																																																			TCF4	-	NULL	ENSG00000196628		0.368	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	-	0	57	0	T	NM_003199		53017614	-1	tier1	-	no_errors	ENST00000398339	ensembl	human	known	74_37	silent	31.67	41	19	SNP	1.000	C	C	53017614	T	C	53017614	2	2	44	1	0	0	0	0	0	0	0	1	15742	1606	56	4		4	TCF4	18	53017614	Silent	SNP	T	TCGA-JY-A93D-01A-11D-A387-09		53017614	25059634	240	10789											
GAMT	2593	genome.wustl.edu	37	chr19	1399827	1399827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccagtcccggagccGctggaagacgccgtcattgc	6	6	15	14	4	1	1	1	0	0	1	2	3	2	3	4	4	2	1	4	4	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:1399827G>A	ENST00000252288.2	-	2	358	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	GAMT_ENST00000447102.3_Missense_Mutation_p.R98W	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	98	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	TCCCGGAGCCGCTGGAAGACG	0.657																																					Colon(167;1531 1939 13427 28842 31956)												0													31	28	29					19																	1399827		2185	4289	6474	SO:0001583	missense	0			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.292C>T	19.37:g.1399827G>A	ENSP00000252288:p.Arg98Trp		A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	NULL	p.R98W	ENST00000252288.2	37	c.292	CCDS12064.1	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983150	0.74474	.	.	ENSG00000130005	ENST00000252288;ENST00000447102	D;D	0.90732	-2.72;-2.72	4.18	3.07	0.35406	.	0.106321	0.64402	D	0.000010	D	0.95014	0.8386	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.955	D	0.94890	0.8047	10	0.52906	T	0.07	-41.9674	12.7985	0.57571	0.0:0.1649:0.8351:0.0	.	98;98	A8K0A0;Q14353	.;GAMT_HUMAN	W	98	ENSP00000252288:R98W;ENSP00000403536:R98W	ENSP00000252288:R98W	R	-	1	2	GAMT	1350827	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	0.860000	0.27871	2.147000	0.66899	0.462000	0.41574	CGG	GAMT	-	NULL	ENSG00000130005		0.657	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1	-	0	50	0	G	NM_138924		1399827	-1	tier1	-	no_errors	ENST00000447102	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A	A	1399827	G	A	1399827	3	1	44	1	0	0	0	0	1	0	0	0	6256	1086	38	1	678	1	GAMT	19	1399827	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		1399827	57729156	241	10790											
AP3D1	8943	genome.wustl.edu	37	chr19	2118609	2118609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggatcttacccgctcctgCacctccaggtctgcgctctg	4	12	9	16	2	3	0	0	0	3	0	5	1	5	1	4	2	3	3	4	2	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:2118609C>T	ENST00000345016.5	-	15	1935	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V	AP3D1_ENST00000356926.4_Silent_p.V477V|AP3D1_ENST00000350812.6_Silent_p.V399V|AP3D1_ENST00000590683.1_5'Flank|AP3D1_ENST00000355272.6_Silent_p.V568V	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	568					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCCTGCACCTCCAGGT	0.672																																																	0													24	28	26					19																	2118609		2116	4219	6335	SO:0001819	synonymous_variant	0			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1704G>A	19.37:g.2118609C>T			O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.V568	ENST00000345016.5	37	c.1704	CCDS42459.1	19																																																																																			AP3D1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	ENSG00000065000		0.672	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	-	0	92	0	C			2118609	-1	tier1	-	no_errors	ENST00000355272	ensembl	human	known	74_37	silent	6.17	76	5	SNP	1.000	T	T	2118609	C	T	2118609	2	4	44	1	0	0	0	0	0	0	0	1	746	697	25	3		3	AP3D1	19	2118609	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	718782	2118609	57010374	242	10791											
STAP2	55620	genome.wustl.edu	37	chr19	4325487	4325487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagtgggggcagcttGtcctggctagacgcaggtga	6	7	20	8	1	0	2	0	1	0	1	1	2	1	2	1	6	1	5	1	6	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:4325487G>T	ENST00000594605.1	-	10	1008	c.885C>A	c.(883-885)gaC>gaA	p.D295E	STAP2_ENST00000600324.1_Missense_Mutation_p.D295E|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	295	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCAGCTTGTCCTGGCTAG	0.592																																																	0													91	97	95					19																	4325487		2203	4300	6503	SO:0001583	missense	0			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.885C>A	19.37:g.4325487G>T	ENSP00000471052:p.Asp295Glu		A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.D295E	ENST00000594605.1	37	c.885	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	G	9.987	1.229682	0.22542	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.77	3.72	0.42706	.	0.736773	0.12041	U	0.505017	T	0.20536	0.0494	N	0.08118	0	0.22648	N	0.998892	B;P	0.40731	0.0;0.728	B;B	0.36666	0.001;0.23	T	0.07654	-1.0761	9	0.87932	D	0	-12.5199	11.4356	0.50066	0.0:0.1807:0.8193:0.0	.	295;295	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	E	295	.	ENSP00000317912:D295E	D	-	3	2	STAP2	4276487	0.298000	0.24417	0.952000	0.39060	0.443000	0.32047	1.342000	0.33919	1.017000	0.39495	-0.425000	0.05940	GAC	STAP2	-	NULL	ENSG00000178078		0.592	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2		0	52	0	G	NM_001013841		4325487	-1			no_errors	ENST00000600324	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.740	T	T	4325487	G	T	4325487	3	4	44	1	0	0	0	0	1	0	0	0	15300	1368	48	3	480	3	STAP2	19	4325487	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	2206878	4325487	54803496	243	10792											
ACTL9	284382	genome.wustl.edu	37	chr19	8807932	8807932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacggagaaattcctggtggGctgggcagccaccaccacgt	9	7	13	12	2	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:8807932G>T	ENST00000324436.3	-	1	1240	c.1120C>A	c.(1120-1122)Ccc>Acc	p.P374T		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	374						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P374S(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTCCTGGTGGGCTGGGCAGCC	0.682																																																	1	Substitution - Missense(1)	kidney(1)											27	31	29					19																	8807932		2203	4300	6503	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1120C>A	19.37:g.8807932G>T	ENSP00000316674:p.Pro374Thr		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.P374T	ENST00000324436.3	37	c.1120	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	g	15.48	2.845800	0.51164	.	.	ENSG00000181786	ENST00000324436	T	0.09445	2.98	4.51	2.24	0.28232	.	0.557431	0.14814	N	0.296900	T	0.16300	0.0392	M	0.76938	2.355	0.34591	D	0.71552	B	0.20550	0.046	B	0.25614	0.062	T	0.07986	-1.0744	10	0.87932	D	0	.	9.9001	0.41342	0.0:0.1518:0.6908:0.1574	.	374	Q8TC94	ACTL9_HUMAN	T	374	ENSP00000316674:P374T	ENSP00000316674:P374T	P	-	1	0	ACTL9	8668932	1.000000	0.71417	0.205000	0.23548	0.577000	0.36160	3.929000	0.56514	0.569000	0.29329	0.457000	0.33378	CCC	ACTL9	-	pfam_Actin-related,smart_Actin-related	ENSG00000181786		0.682	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1		0	46	0	G	NM_178525		8807932	-1			no_errors	ENST00000324436	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	T	T	8807932	G	T	8807932	3	4	44	1	0	0	0	0	1	0	0	0	203	1203	42	3	134	3	ACTL9	19	8807932	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	4482445	8807932	50321051	244	10793											
CACNA1A	773	genome.wustl.edu	37	chr19	13441142	13441142	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctttatggtggttctccGcagagctccaacaatggaaa	10	13	9	9	1	2	1	0	0	2	1	4	2	3	2	2	3	2	3	2	3	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:13441142G>T	ENST00000360228.5	-	10	1260	c.1261C>A	c.(1261-1263)Cgg>Agg	p.R421R	CACNA1A_ENST00000573710.2_Silent_p.R422R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	422					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGGTTCTCCGCAGAGCTCCA	0.478																																																	0													69	68	68					19																	13441142		1899	4112	6011	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1261C>A	19.37:g.13441142G>T			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.R421	ENST00000360228.5	37	c.1261	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.478	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	51	0	G	NM_000068		13441142	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	silent	6.00	47	3	SNP	1.000	T	T	13441142	G	T	13441142	2	4	44	1	0	0	0	0	0	0	0	1	2545	1086	38	2		2	CACNA1A	19	13441142	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	4633210	13441142	45687841	245	10794											
NOTCH3	4854	genome.wustl.edu	37	chr19	15302299	15302299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcatggcaggtggccccatgGaagcacacggctgtggcaca	9	6	14	12	1	1	0	1	0	0	0	1	1	1	1	2	6	1	4	2	6	1	0	rs149725987		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:15302299G>A	ENST00000263388.2	-	6	1047	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	324	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.F324F(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCCCCATGGAAGCACACGG	0.597																																																	1	Substitution - coding silent(1)	skin(1)											52	42	45					19																	15302299		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.972C>T	19.37:g.15302299G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.F324	ENST00000263388.2	37	c.972	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.597	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	51	0	G	NM_000435		15302299	-1	tier1	rs149725987	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	20.83	38	10	SNP	1.000	A	A	15302299	G	A	15302299	2	1	44	1	0	0	0	0	0	0	0	1	10589	1165	41	3		3	NOTCH3	19	15302299	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1861157	15302299	43826684	246	10795											
CYP4F12	66002	genome.wustl.edu	37	chr19	15789138	15789138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctattcccagggctttaCgatatggctgggtcccatca	8	11	9	13	1	1	0	1	0	0	0	3	1	3	0	3	3	1	2	3	3	3	5	rs200483875		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:15789138C>T	ENST00000550308.1	+	3	646	c.266C>T	c.(265-267)aCg>aTg	p.T89M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.T89M	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	89					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.T89M(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CAGGGCTTTACGATATGGCTG	0.537																																																	1	Substitution - Missense(1)	central_nervous_system(1)											139	140	139					19																	15789138		2177	4281	6458	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.266C>T	19.37:g.15789138C>T	ENSP00000448998:p.Thr89Met		E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.T89M	ENST00000550308.1	37	c.266	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	2.662	-0.279522	0.05642	.	.	ENSG00000186204	ENST00000550308;ENST00000551607;ENST00000324632	D;D;D	0.88046	-2.33;-2.33;-2.33	2.92	-5.84	0.02318	.	1.167450	0.06492	N	0.734839	T	0.71400	0.3335	N	0.25245	0.725	0.09310	N	1	B;B;B	0.19073	0.023;0.033;0.0	B;B;B	0.17722	0.019;0.019;0.001	T	0.55379	-0.8150	10	0.31617	T	0.26	.	0.2117	0.00157	0.2841:0.2343:0.1439:0.3376	.	89;89;89	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	M	89;42;89	ENSP00000448998:T89M;ENSP00000447922:T42M;ENSP00000321821:T89M	ENSP00000321821:T89M	T	+	2	0	CYP4F12	15650138	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.913000	0.04042	-1.588000	0.01627	-2.605000	0.00161	ACG	CYP4F12	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000186204		0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	HGNC	protein_coding	OTTHUMT00000378938.9		0	86	0	C			15789138	1			no_errors	ENST00000324632	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	T	T	15789138	C	T	15789138	3	4	44	1	0	0	0	0	1	0	0	0	4196	536	19	1	272	1	CYP4F12	19	15789138	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	486839	15789138	43339845	247	10796											
ANO8	57719	genome.wustl.edu	37	chr19	17435735	17435735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggcggtgagtggctgCgctcagagtcccgccgggtc	3	9	17	12	4	1	2	1	1	0	1	3	2	2	2	2	4	1	2	2	4	0	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:17435735C>T	ENST00000159087.4	-	17	3280	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1041					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGAGTGGCTGCGCTCAGAGTC	0.692																																																	0													63	77	72					19																	17435735		2203	4300	6503	SO:0001583	missense	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3122G>A	19.37:g.17435735C>T	ENSP00000159087:p.Arg1041His		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.R1041H	ENST00000159087.4	37	c.3122	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083453	0.55861	.	.	ENSG00000074855	ENST00000159087	T	0.69685	-0.42	3.63	3.63	0.41609	.	0.000000	0.85682	U	0.000000	T	0.75598	0.3871	L	0.52573	1.65	0.36598	D	0.874485	D	0.89917	1.0	D	0.78314	0.991	T	0.81413	-0.0944	10	0.62326	D	0.03	.	12.7871	0.57512	0.0:1.0:0.0:0.0	.	1041	Q9HCE9	ANO8_HUMAN	H	1041	ENSP00000159087:R1041H	ENSP00000159087:R1041H	R	-	2	0	ANO8	17296735	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	2.667000	0.46808	1.572000	0.49736	0.297000	0.19635	CGC	ANO8	-	NULL	ENSG00000074855		0.692	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	-	0	90	0	C	XM_050644		17435735	-1	tier1	-	no_errors	ENST00000159087	ensembl	human	known	74_37	missense	14.47	65	11	SNP	1.000	T	T	17435735	C	T	17435735	3	4	44	1	0	0	0	0	1	0	0	0	703	768	27	1	584	1	ANO8	19	17435735	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1646597	17435735	41693248	248	10797											
UNC13A	23025	genome.wustl.edu	37	chr19	17750317	17750317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggagtctctccgggctGctggctgggaagttattctg	4	13	14	10	1	2	0	0	0	2	0	5	2	4	2	2	4	1	4	2	4	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:17750317G>A	ENST00000519716.2	-	24	2873	c.2874C>T	c.(2872-2874)agC>agT	p.S958S	UNC13A_ENST00000428389.2_Silent_p.S1046S|UNC13A_ENST00000551649.1_Silent_p.S958S|UNC13A_ENST00000552293.1_Silent_p.S958S|UNC13A_ENST00000550896.1_Silent_p.S956S|UNC13A_ENST00000252773.7_Silent_p.S958S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	958					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCTCCGGGCTGCTGGCTGGGA	0.537																																																	0													67	66	66					19																	17750317		1952	4153	6105	SO:0001819	synonymous_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2874C>T	19.37:g.17750317G>A			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S1046	ENST00000519716.2	37	c.3138	CCDS46013.2	19																																																																																			UNC13A	-	NULL	ENSG00000130477		0.537	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	101	0	G	XM_038604		17750317	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	A	A	17750317	G	A	17750317	2	1	44	1	0	0	0	0	0	0	0	1	17033	1310	46	3		3	UNC13A	19	17750317	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	314582	17750317	41378666	249	10798											
ZNF626	199777	genome.wustl.edu	37	chr19	20808302	20808302	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaagttcattataaccttcTttgtgcaccttacactcatc	10	17	3	11	0	3	0	2	0	1	0	4	0	3	0	2	0	3	2	2	0	4	7			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:20808302T>G	ENST00000601440.1	-	4	527	c.381A>C	c.(379-381)aaA>aaC	p.K127N	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATAACCTTCTTTGTGCACCT	0.313																																																	0													103	108	106					19																	20808302		2170	4286	6456	SO:0001583	missense	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.381A>C	19.37:g.20808302T>G	ENSP00000469958:p.Lys127Asn		Q8N8T4|Q96QM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K127N	ENST00000601440.1	37	c.381	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	8.423	0.846762	0.16963	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	-1.8	0.07907	.	.	.	.	.	T	0.51466	0.1676	M	0.81112	2.525	0.09310	N	1	P	0.52061	0.95	P	0.58210	0.835	T	0.42396	-0.9454	8	0.39692	T	0.17	.	2.2466	0.04033	0.0:0.2513:0.312:0.4366	.	127	Q68DY1	ZN626_HUMAN	N	127;51;127	.	ENSP00000445201:K127N	K	-	3	2	ZNF626	20600142	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	0.331000	0.19733	-1.021000	0.03350	-1.058000	0.02302	AAA	ZNF626	-	NULL	ENSG00000188171		0.313	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	-	0	145	0	T	NM_145297		20808302	-1	tier1	-	no_errors	ENST00000601440	ensembl	human	known	74_37	missense	14.29	102	17	SNP	0.001	G	G	20808302	T	G	20808302	3	3	44	1	0	0	0	0	1	0	0	0	18098	1606	56	4	1209	4	ZNF626	19	20808302	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	3057985	20808302	38320681	250	10799											
ZNF493	284443	genome.wustl.edu	37	chr19	21606279	21606279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagaatgtggcacatCtttctaccaattctcatacc	12	13	6	10	0	3	2	1	1	3	1	4	2	3	2	2	1	2	1	2	1	5	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:21606279C>A	ENST00000355504.4	+	2	700	c.434C>A	c.(433-435)tCt>tAt	p.S145Y	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S273Y	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S273C(1)|p.S145C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGGCACATCTTTCTACCAA	0.348																																																	2	Substitution - Missense(2)	urinary_tract(2)											52	54	53					19																	21606279		2203	4297	6500	SO:0001583	missense	0			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"Zinc fingers, C2H2-type", "-"	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.434C>A	19.37:g.21606279C>A	ENSP00000347691:p.Ser145Tyr		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S145Y	ENST00000355504.4	37	c.434	CCDS12412.1	19	.	.	.	.	.	.	.	.	.	.	N	8.277	0.814617	0.16607	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.18810	2.19;2.19	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	M	0.64997	1.995	0.09310	N	1	D;P	0.59767	0.986;0.866	P;B	0.55345	0.774;0.227	T	0.11060	-1.0603	9	0.87932	D	0	.	6.3469	0.21355	0.0:0.4433:0.5567:0.0	.	145;273	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	Y	273;145	ENSP00000376110:S273Y;ENSP00000347691:S145Y	ENSP00000347691:S145Y	S	+	2	0	ZNF493	21398119	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-0.908000	0.04063	0.378000	0.24764	0.384000	0.25694	TCT	ZNF493	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196268		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	ZNF493	HGNC	protein_coding	OTTHUMT00000280563.1		0	35	0	C	NM_175910		21606279	1			no_errors	ENST00000355504	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.028	A	A	21606279	C	A	21606279	3	1	44	1	0	0	0	0	1	0	0	0	17992	913	32	3	895	3	ZNF493	19	21606279	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	797977	21606279	37522704	251	10800											
TSHZ3	57616	genome.wustl.edu	37	chr19	31770238	31770240	+	In_Frame_Del	DEL	CTG	CTG	-																															cacagctgctgctgctgctaCtgctgctgctgctgctgccg																										TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:31770238_31770240delCTG	ENST00000240587.4	-	2	786_788	c.459_461delCAG	c.(457-462)agcagt>agt	p.153_154SS>S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	153	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					gctgctgctactgctgctgctgc	0.611																																																	0																																										SO:0001651	inframe_deletion	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.459_461delCAG	19.37:g.31770247_31770249delCTG	ENSP00000240587:p.Ser159del		Q9H0G6|Q9P254	In_Frame_Del	DEL	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S157in_frame_del	ENST00000240587.4	37	c.461_459	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.611	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2		0	48	0	CTG	NM_020856		31770240	-1	tier1		no_errors	ENST00000240587	ensembl	human	known	74_37	in_frame_del	9.68	28	3	DEL	1.000:1.000:1.000	-	-	31770240	CTG	-	31770238	7	5	44	1	0	1	0	1	0	0	0	0	16673	565	20	0	2788	0	TSHZ3	19	31770238	In_Frame_Del	DEL	CTG	TCGA-JY-A93D-01A-11D-A387-09	10163959	31770238	27358745	252	10801											
MAG	4099	genome.wustl.edu	37	chr19	35801001	35801001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaggccccgccccgcGtcatctgcaccgcgaggaac	7	3	12	19	5	2	0	1	0	1	0	2	2	2	1	6	3	2	1	6	3	1	0	rs142036180		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:35801001G>A	ENST00000392213.3	+	8	1615	c.1456G>A	c.(1456-1458)Gtc>Atc	p.V486I	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000361922.4_Missense_Mutation_p.V486I|MAG_ENST00000537831.2_Missense_Mutation_p.V461I	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	486	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCGCCCCGCGTCATCTGCAC	0.697																																																	0								G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	34	34	34		1381,1456,1456	4.7	1	19	dbSNP_134	34	2,8592		0,2,4295	no	missense,missense,missense	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	29,29,29	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	461/602,486/627,486/583	35801001	2,12998	2203	4297	6500	SO:0001583	missense	0			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1456G>A	19.37:g.35801001G>A	ENSP00000376048:p.Val486Ile		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V486I	ENST00000392213.3	37	c.1456	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333059	0.41297	0.0	2.33E-4	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.13778	2.56;2.56;2.56	4.68	4.68	0.58851	.	0.063541	0.64402	D	0.000007	T	0.06234	0.0161	N	0.14661	0.345	0.43412	D	0.995558	B;P;P	0.37688	0.336;0.605;0.605	B;B;B	0.24155	0.051;0.033;0.033	T	0.29761	-1.0001	10	0.45353	T	0.12	.	8.6702	0.34145	0.1022:0.0:0.8978:0.0	.	523;486;486	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	I	523;486;486;461	ENSP00000355234:V486I;ENSP00000376048:V486I;ENSP00000440695:V461I	ENSP00000262624:V523I	V	+	1	0	MAG	40492841	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	2.884000	0.48562	2.431000	0.82371	0.462000	0.41574	GTC	MAG	-	NULL	ENSG00000105695		0.697	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	-	0	33	0	G	NM_080600		35801001	1	tier1	rs142036180	no_errors	ENST00000392213	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.999	A	A	35801001	G	A	35801001	3	1	44	1	0	0	0	0	1	0	0	0	9198	1145	40	1	1478	1	MAG	19	35801001	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	4030763	35801001	23327982	253	10802											
ATP4A	495	genome.wustl.edu	37	chr19	36050724	36050724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgacagtggccagcaGcccctcaggcacataggcca	10	5	11	15	0	1	1	1	1	0	0	1	1	1	1	4	3	2	2	4	3	1	1			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:36050724G>A	ENST00000262623.3	-	7	1067	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	347					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GTGGCCAGCAGCCCCTCAGGC	0.587																																																	0													41	37	38					19																	36050724		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1039C>T	19.37:g.36050724G>A			O00738	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.L347	ENST00000262623.3	37	c.1039	CCDS12467.1	19																																																																																			ATP4A	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000105675		0.587	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0	33	0	G	NM_000704		36050724	-1	tier1	-	no_errors	ENST00000262623	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	A	A	36050724	G	A	36050724	2	1	44	1	0	0	0	0	0	0	0	1	1146	962	34	3		3	ATP4A	19	36050724	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	249723	36050724	23078259	254	10803											
ZNF568	374900	genome.wustl.edu	37	chr19	37441138	37441138	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcatactggggagaaaccTtatgcatgtaatgaatgtgg	13	12	11	5	0	1	2	1	1	0	1	1	3	1	2	1	3	3	2	1	3	5	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:37441138T>G	ENST00000333987.7	+	7	1589	c.1083T>G	c.(1081-1083)ccT>ccG	p.P361P	ZNF568_ENST00000415168.1_Silent_p.P297P|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGAGAAACCTTATGCATGTA	0.388																																																	0													77	84	82					19																	37441138		2196	4296	6492	SO:0001819	synonymous_variant	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1083T>G	19.37:g.37441138T>G			B4DS92|E7ER33|Q6N060|Q8NA64	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P361	ENST00000333987.7	37	c.1083	CCDS42558.1	19																																																																																			ZNF568	-	pfscan_Znf_C2H2	ENSG00000198453		0.388	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	-	0	69	0	T	NM_198539		37441138	1	tier1	-	no_errors	ENST00000333987	ensembl	human	known	74_37	silent	19.05	68	16	SNP	0.003	G	G	37441138	T	G	37441138	2	3	44	1	0	0	0	0	0	0	0	1	18047	1596	56	4		4	ZNF568	19	37441138	Silent	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	1390414	37441138	21687845	255	10804											
BCAM	4059	genome.wustl.edu	37	chr19	45316510	45316510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtgtctgcctcagatcGccacctgcaacagccggaac	8	6	10	17	3	2	1	1	0	1	1	3	2	2	2	5	1	5	1	5	1	2	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:45316510G>A	ENST00000270233.6	+	5	530	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	BCAM_ENST00000589651.1_Missense_Mutation_p.A170T	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	170	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCCTCAGATCGCCACCTGCAA	0.642																																																	0													41	42	42					19																	45316510		2201	4295	6496	SO:0001583	missense	0			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.508G>A	19.37:g.45316510G>A	ENSP00000270233:p.Ala170Thr		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A170T	ENST00000270233.6	37	c.508	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	15.90	2.969354	0.53614	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.17054	2.3;2.3	3.95	3.95	0.45737	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39809	0.1092	M	0.74881	2.28	0.34716	D	0.728268	D	0.89917	1.0	D	0.85130	0.997	T	0.53450	-0.8437	9	0.52906	T	0.07	-28.9633	11.6869	0.51492	0.0:0.0:1.0:0.0	.	170	P50895	BCAM_HUMAN	T	170	ENSP00000270233:A170T;ENSP00000375817:A170T	ENSP00000270233:A170T	A	+	1	0	BCAM	50008350	1.000000	0.71417	0.978000	0.43139	0.172000	0.22775	4.717000	0.61923	2.202000	0.70862	0.462000	0.41574	GCC	BCAM	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000187244		0.642	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	-	0	133	0	G	NM_005581		45316510	1	tier1	-	no_errors	ENST00000270233	ensembl	human	known	74_37	missense	22.46	107	31	SNP	0.978	A	A	45316510	G	A	45316510	3	1	44	1	0	0	0	0	1	0	0	0	1345	1087	38	1	526	1	BCAM	19	45316510	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	7875372	45316510	13812473	256	10805											
TPRX1	284355	genome.wustl.edu	37	chr19	48305105	48305105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcttggggctgagacCctgagtgttttttgcccata	5	14	10	12	0	1	2	0	2	1	1	2	3	2	2	4	2	1	2	4	2	1	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:48305105C>A	ENST00000322175.3	-	2	1318	c.1163G>T	c.(1162-1164)gGg>gTg	p.G388V	TPRX1_ENST00000543508.1_Missense_Mutation_p.G378V|TPRX1_ENST00000535759.1_Missense_Mutation_p.G485V	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	388						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GGGCTGAGACCCTGAGTGTTT	0.532																																					Esophageal Squamous(123;175 2281 3051 32395)												0													108	114	112					19																	48305105		2203	4300	6503	SO:0001583	missense	0				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"Homeoboxes / PRD class"	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1163G>T	19.37:g.48305105C>A	ENSP00000323455:p.Gly388Val		A5D8Y3|B2RPL5	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G485V	ENST00000322175.3	37	c.1454	CCDS33066.1	19	.	.	.	.	.	.	.	.	.	.	t	7.720	0.697024	0.15106	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.94828	-2.37;-3.53	0.468	-0.799	0.10901	.	.	.	.	.	D	0.84275	0.5436	N	0.08118	0	0.09310	N	1	D	0.55172	0.97	B	0.40940	0.344	T	0.78175	-0.2306	8	0.87932	D	0	.	.	.	.	.	388	Q8N7U7	TPRX1_HUMAN	V	388;485;378	ENSP00000323455:G388V;ENSP00000438832:G485V	ENSP00000323455:G388V	G	-	2	0	TPRX1	52996917	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	0.396000	0.20867	-0.321000	0.08627	-0.320000	0.08662	GGG	TPRX1	-	NULL	ENSG00000178928		0.532	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	HGNC	protein_coding	OTTHUMT00000409868.1		0	64	0	C	NM_198479		48305105	-1			no_errors	ENST00000535759	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.006	A	A	48305105	C	A	48305105	3	1	44	1	0	0	0	0	1	0	0	0	16470	623	22	3	76	3	TPRX1	19	48305105	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2988595	48305105	10823878	257	10806											
RPS11	6205	genome.wustl.edu	37	chr19	50000798	50000798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgagggcacctacattGacaagaaatgccccttcact	12	10	7	12	0	1	3	1	2	0	1	1	3	1	3	3	1	2	1	3	1	4	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:50000798G>T	ENST00000270625.2	+	3	252	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000596873.1_Missense_Mutation_p.D57Y|RPS11_ENST00000594493.1_5'UTR|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000599561.1_Intron	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	57					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CACCTACATTGACAAGAAATG	0.527																																																	0													84	78	80					19																	50000798		2203	4300	6503	SO:0001583	missense	0			AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"S ribosomal proteins"	10384	protein-coding gene	gene with protein product	"40S ribosomal protein S11"	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.169G>T	19.37:g.50000798G>T	ENSP00000270625:p.Asp57Tyr		B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ	p.D57Y	ENST00000270625.2	37	c.169	CCDS12769.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371951	0.82573	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.47	4.44	0.53790	.	0.049331	0.85682	D	0.000000	T	0.77791	0.4183	M	0.85299	2.745	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	T	0.80216	-0.1474	8	.	.	.	-42.6146	11.6593	0.51337	0.086:0.0:0.914:0.0	.	57	P62280	RS11_HUMAN	Y	57	.	.	D	+	1	0	RPS11	54692610	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	9.606000	0.98325	1.317000	0.45149	0.561000	0.74099	GAC	RPS11	-	tigrfam_Ribosomal_S17_arc-typ	ENSG00000142534		0.527	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS11	HGNC	protein_coding	OTTHUMT00000465288.1	-	0	66	0	G	NM_001015		50000798	1	tier1	-	no_errors	ENST00000270625	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	50000798	G	T	50000798	3	4	44	1	0	0	0	0	1	0	0	0	13666	1290	45	3	179	3	RPS11	19	50000798	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1695693	50000798	9128185	258	10807											
MYBPC2	4606	genome.wustl.edu	37	chr19	50944200	50944200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacctaggcatccccccGgagatttgggagctcctgaa	9	8	12	12	1	0	3	0	2	0	1	2	6	2	4	5	3	1	2	5	3	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:50944200G>A	ENST00000357701.5	+	8	687	c.636G>A	c.(634-636)ccG>ccA	p.P212P		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	212					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCATCCCCCCGGAGATTTGGG	0.582																																																	0																																										SO:0001819	synonymous_variant	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.636G>A	19.37:g.50944200G>A			A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P212	ENST00000357701.5	37	c.636	CCDS46152.1	19																																																																																			MYBPC2	-	NULL	ENSG00000086967		0.582	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	-	0	54	0	G	NM_004533		50944200	1	tier1	-	no_errors	ENST00000357701	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.995	A	A	50944200	G	A	50944200	2	1	44	1	0	0	0	0	0	0	0	1	10050	1103	39	1		1	MYBPC2	19	50944200	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	943402	50944200	8184783	259	10808											
SIGLEC5	8778	genome.wustl.edu	37	chr19	52115505	52115505	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgcttgtcttgatctcCgagtactccgtggtgcttgg	4	15	11	11	2	2	1	0	1	2	0	4	2	3	1	2	2	3	3	2	2	1	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:52115505C>T	ENST00000534261.2	-	10	2034	c.1635G>A	c.(1633-1635)tcG>tcA	p.S545S	SIGLEC5_ENST00000429354.3_Silent_p.S545S|SIGLEC5_ENST00000599649.1_Silent_p.S545S|SIGLEC5_ENST00000570106.2_Silent_p.S545S|SIGLEC5_ENST00000222107.4_Silent_p.S545S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	545					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCTTGATCTCCGAGTACTCCG	0.542																																																	0													143	120	128					19																	52115505		2203	4300	6503	SO:0001819	synonymous_variant	0			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1635G>A	19.37:g.52115505C>T				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S545	ENST00000534261.2	37	c.1635	CCDS33088.1	19																																																																																			SIGLEC5	-	NULL	ENSG00000105501		0.542	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	-	0	72	0	C	NM_003830		52115505	-1	tier1	-	no_errors	ENST00000222107	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.189	T	T	52115505	C	T	52115505	2	4	44	1	0	0	0	0	0	0	0	1	14356	639	23	1		1	SIGLEC5	19	52115505	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1171305	52115505	7013478	260	10809											
ZNF470	388566	genome.wustl.edu	37	chr19	57089485	57089485	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagttcatactggtgagaAgccttacgaatgtattgaat	13	12	11	5	1	1	3	1	2	0	2	1	6	1	3	1	1	3	2	1	1	6	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:57089485A>T	ENST00000330619.8	+	6	2374	c.1688A>T	c.(1687-1689)aAg>aTg	p.K563M	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.K563M	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ACTGGTGAGAAGCCTTACGAA	0.438																																																	0													100	88	92					19																	57089485		2203	4300	6503	SO:0001583	missense	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1688A>T	19.37:g.57089485A>T	ENSP00000333223:p.Lys563Met		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K563M	ENST00000330619.8	37	c.1688	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641678	0.67244	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.27557	1.66;1.66	4.37	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57710	0.2072	M	0.89478	3.035	0.33593	D	0.601402	D	0.89917	1.0	D	0.77004	0.989	T	0.70132	-0.4956	9	0.87932	D	0	.	8.9195	0.35604	0.9089:0.0:0.0911:0.0	.	563	Q6ECI4	ZN470_HUMAN	M	563	ENSP00000375590:K563M;ENSP00000333223:K563M	ENSP00000333223:K563M	K	+	2	0	ZNF470	61781297	0.987000	0.35691	1.000000	0.80357	0.966000	0.64601	1.544000	0.36158	0.729000	0.32403	0.528000	0.53228	AAG	ZNF470	-	pfscan_Znf_C2H2	ENSG00000197016		0.438	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	-	0	73	0	A	NM_001001668		57089485	1	tier1	-	no_errors	ENST00000330619	ensembl	human	known	74_37	missense	17.50	66	14	SNP	1.000	T	T	57089485	A	T	57089485	3	4	44	1	0	0	0	0	1	0	0	0	17977	72	3	5	1702	5	ZNF470	19	57089485	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	4973980	57089485	2039498	261	10810											
USP29	57663	genome.wustl.edu	37	chr19	57640428	57640428	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggaatatgctgaaggaaAttgacaaaacttcattttac	16	11	8	6	0	1	2	1	2	0	0	1	4	1	4	0	2	3	2	0	2	7	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:57640428A>C	ENST00000254181.4	+	4	839	c.385A>C	c.(385-387)Att>Ctt	p.I129L	USP29_ENST00000598197.1_Missense_Mutation_p.I129L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	129					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGAAGGAAATTGACAAAAC	0.358																																																	0													67	63	64					19																	57640428		2203	4300	6503	SO:0001583	missense	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.385A>C	19.37:g.57640428A>C	ENSP00000254181:p.Ile129Leu			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.I129L	ENST00000254181.4	37	c.385	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	A	7.254	0.603807	0.14002	.	.	ENSG00000131864	ENST00000254181	T	0.44881	0.91	2.64	1.58	0.23477	.	.	.	.	.	T	0.30541	0.0768	L	0.50333	1.59	0.09310	N	1	P	0.39831	0.69	B	0.36666	0.23	T	0.11567	-1.0582	9	0.19590	T	0.45	0.0611	5.8154	0.18490	0.726:0.274:0.0:0.0	.	129	Q9HBJ7	UBP29_HUMAN	L	129	ENSP00000254181:I129L	ENSP00000254181:I129L	I	+	1	0	USP29	62332240	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.069000	0.11542	0.373000	0.24621	0.482000	0.46254	ATT	USP29	-	NULL	ENSG00000131864		0.358	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	-	0	19	0	A			57640428	1	tier1	-	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.000	C	C	57640428	A	C	57640428	3	2	44	1	0	0	0	0	1	0	0	0	17108	101	4	4	387	4	USP29	19	57640428	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	550943	57640428	1488555	262	10811											
ZSCAN18	65982	genome.wustl.edu	37	chr19	58601387	58601387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcatctgctccttggagCgcgcctcaggcatcagccac	7	7	10	17	2	3	0	2	0	1	0	4	1	4	1	4	2	4	3	4	2	0	1	rs375610615		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr19:58601387C>T	ENST00000240727.6	-	2	647	c.248G>A	c.(247-249)cGc>cAc	p.R83H	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.R139H|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.R83H	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	83	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCCTTGGAGCGCGCCTCAGG	0.657													C|||	1	0.000199681	0	0	5008	,	,		15047	0.001		0	False		,,,				2504	0																0								C	HIS/ARG,HIS/ARG,,HIS/ARG	1,4405		0,1,2202	39	40	40		416,248,,248	1.3	0.2	19		40	0,8600		0,0,4300	no	missense,missense,intron,missense	ZSCAN18	NM_001145542.1,NM_001145543.1,NM_001145544.1,NM_023926.4	29,29,,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,,benign	139/567,83/511,,83/511	58601387	1,13005	2203	4300	6503	SO:0001583	missense	0			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"-", "Zinc fingers, C2H2-type"	21037	protein-coding gene	gene with protein product			"zinc finger protein 447"	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.248G>A	19.37:g.58601387C>T	ENSP00000240727:p.Arg83His		B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R139H	ENST00000240727.6	37	c.416	CCDS12971.1	19	.	.	.	.	.	.	.	.	.	.	C	9.592	1.126414	0.20959	2.27E-4	0.0	ENSG00000121413	ENST00000433686;ENST00000240727	T	0.03772	3.81	3.53	1.32	0.21799	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	1.212910	0.06448	N	0.727169	T	0.01421	0.0046	N	0.01493	-0.835	0.21064	N	0.999798	B;B;B;B	0.33413	0.126;0.012;0.411;0.288	B;B;B;B	0.24155	0.023;0.002;0.024;0.051	T	0.34204	-0.9838	10	0.02654	T	1	-0.621	4.831	0.13439	0.0:0.6128:0.0:0.3872	.	139;153;83;83	B4DG23;Q6ZMK6;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	H	139;83	ENSP00000240727:R83H	ENSP00000240727:R83H	R	-	2	0	ZSCAN18	63293199	0.000000	0.05858	0.155000	0.22561	0.917000	0.54804	-2.015000	0.01447	0.197000	0.20387	0.561000	0.74099	CGC	ZSCAN18	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000121413		0.657	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ZSCAN18	HGNC	protein_coding	OTTHUMT00000466706.1	-	0	90	0	C	NM_023926		58601387	-1	tier1	-	no_errors	ENST00000600404	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.245	T	T	58601387	C	T	58601387	3	4	44	1	0	0	0	0	1	0	0	0	18278	768	27	1	1308	1	ZSCAN18	19	58601387	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	960959	58601387	527596	263	10812											
NAA20	51126	genome.wustl.edu	37	chr20	20013263	20013263	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtcatagagtactattcGgccagcaacggggagcctga	11	7	13	10	3	1	2	1	1	0	1	2	3	1	3	2	4	4	2	2	4	4	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr20:20013263G>T	ENST00000334982.4	+	5	698	c.417G>T	c.(415-417)tcG>tcT	p.S139S	NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000398602.2_Silent_p.S127S	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	139	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						AGTACTATTCGGCCAGCAACG	0.438																																																	0													92	86	88					20																	20013263		2203	4300	6503	SO:0001819	synonymous_variant	0			AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"N(alpha)-acetyltransferase subunits"	15908	protein-coding gene	gene with protein product	"N-acetyltransferase 3 homolog (S. cerevisiae)"	610833	"N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)", "N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)", "N-acetyltransferase 5", "N-acetyltransferase 5 (GCN5-related, putative)"	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.417G>T	20.37:g.20013263G>T			A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S139	ENST00000334982.4	37	c.417	CCDS13141.1	20																																																																																			NAA20	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000173418		0.438	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA20	HGNC	protein_coding	OTTHUMT00000078217.2	-	0	81	0	G	NM_016100		20013263	1	tier1	-	no_errors	ENST00000334982	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.618	T	T	20013263	G	T	20013263	2	4	44	1	0	0	0	0	0	0	0	1	10158	1103	39	2		2	NAA20	20	20013263	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		20013263	43012257	264	10813											
CHD6	84181	genome.wustl.edu	37	chr20	40045933	40045933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcatccccaatgtctcCtgtgatgcccgatgttgagc	7	12	9	13	1	2	2	1	2	1	0	4	3	3	2	4	0	3	2	4	0	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr20:40045933C>T	ENST00000373233.3	-	32	6361	c.6184G>A	c.(6184-6186)Gga>Aga	p.G2062R	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2062					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAATGTCTCCTGTGATGCCC	0.473																																																	0													122	124	123					20																	40045933		2203	4300	6503	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6184G>A	20.37:g.40045933C>T	ENSP00000362330:p.Gly2062Arg		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G2062R	ENST00000373233.3	37	c.6184	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774344	0.69992	.	.	ENSG00000124177	ENST00000373233	D	0.86366	-2.11	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000032	D	0.93070	0.7794	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93124	0.6527	10	0.66056	D	0.02	-18.2481	19.623	0.95667	0.0:1.0:0.0:0.0	.	2062	Q8TD26	CHD6_HUMAN	R	2062	ENSP00000362330:G2062R	ENSP00000362330:G2062R	G	-	1	0	CHD6	39479347	0.976000	0.34144	0.818000	0.32626	0.158000	0.22134	6.224000	0.72265	2.702000	0.92279	0.655000	0.94253	GGA	CHD6	-	NULL	ENSG00000124177		0.473	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1		0	44	0	C			40045933	-1			no_errors	ENST00000373233	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.997	T	T	40045933	C	T	40045933	3	4	44	1	0	0	0	0	1	0	0	0	3336	690	24	3	1987	3	CHD6	20	40045933	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	20032670	40045933	22979587	265	10814											
TOX2	84969	genome.wustl.edu	37	chr20	42602018	42602018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattctagtttgatggtgaCagtgcctacgtggggatgag	8	13	14	6	1	1	3	0	3	1	0	1	4	1	4	1	3	2	1	1	3	3	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr20:42602018C>T	ENST00000358131.5	+	2	346	c.138C>T	c.(136-138)gaC>gaT	p.D46D	TOX2_ENST00000372999.1_5'UTR|TOX2_ENST00000423191.2_5'UTR|TOX2_ENST00000341197.4_Silent_p.D37D	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	46					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TTGATGGTGACAGTGCCTACG	0.557																																																	0													125	107	113					20																	42602018		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.138C>T	20.37:g.42602018C>T			A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.D37	ENST00000358131.5	37	c.111	CCDS42875.1	20																																																																																			TOX2	-	NULL	ENSG00000124191		0.557	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2		0	71	0	C			42602018	1			no_errors	ENST00000341197	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T	T	42602018	C	T	42602018	2	4	44	1	0	0	0	0	0	0	0	1	16426	477	17	3		3	TOX2	20	42602018	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	2556085	42602018	20423502	266	10815											
MATN4	8785	genome.wustl.edu	37	chr20	43933303	43933303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacgccaacgcgcgtggCgttgggacccacgttcaggc	7	6	14	14	6	2	0	2	0	0	0	2	2	2	1	2	3	1	2	2	3	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr20:43933303C>T	ENST00000372754.1	-	2	216	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000360607.6_Missense_Mutation_p.A70T|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.A70T|MATN4_ENST00000372756.1_Missense_Mutation_p.A70T|MATN4_ENST00000342716.4_Missense_Mutation_p.A70T|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.A70T			O95460	MATN4_HUMAN	matrilin 4	70	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.N69fs*3(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACGCGCGTGGCGTTGGGACCC	0.642																																																	1	Deletion - Frameshift(1)	skin(1)											36	34	35					20																	43933303		2202	4298	6500	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.208G>A	20.37:g.43933303C>T	ENSP00000361840:p.Ala70Thr		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.A70T	ENST00000372754.1	37	c.208		20	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794888	0.50102	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.2	4.2	0.49525	.	0.000000	0.41938	D	0.000785	T	0.73148	0.3550	N	0.26092	0.79	0.80722	D	1	P;D;P	0.58620	0.749;0.983;0.764	B;P;B	0.55011	0.135;0.766;0.23	T	0.70479	-0.4860	10	0.31617	T	0.26	.	9.4942	0.38978	0.0:0.9031:0.0:0.0969	.	70;70;70	A6NNA4;O95460-4;O95460-2	.;.;.	T	70	ENSP00000361840:A70T;ENSP00000361842:A70T;ENSP00000243983:A70T;ENSP00000353819:A70T;ENSP00000343164:A70T;ENSP00000440328:A70T	ENSP00000255132:A70T	A	-	1	0	MATN4	43366717	0.999000	0.42202	1.000000	0.80357	0.811000	0.45836	2.923000	0.48868	2.161000	0.67846	0.462000	0.41574	GCC	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.642	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	-	0	21	0	C			43933303	-1	tier1	-	no_errors	ENST00000372754	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	T	T	43933303	C	T	43933303	3	4	44	1	0	0	0	0	1	0	0	0	9374	768	27	1	1569	1	MATN4	20	43933303	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1331285	43933303	19092217	267	10816											
CASS4	57091	genome.wustl.edu	37	chr20	55012570	55012570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagccccctactgcccaAgtctatgaattccccgaccc	8	7	5	21	1	1	1	0	1	1	0	2	2	2	1	8	0	3	0	8	0	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr20:55012570A>G	ENST00000360314.3	+	3	612	c.387A>G	c.(385-387)caA>caG	p.Q129Q	CASS4_ENST00000371336.3_Silent_p.Q129Q|CASS4_ENST00000434344.1_Silent_p.Q129Q	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	129					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTACTGCCCAAGTCTATGAAT	0.567																																																	0													68	74	72					20																	55012570		2191	4284	6475	SO:0001819	synonymous_variant	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.387A>G	20.37:g.55012570A>G			E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Silent	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Q129	ENST00000360314.3	37	c.387	CCDS33492.1	20																																																																																			CASS4	-	NULL	ENSG00000087589		0.567	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2	-	0	41	0	A	NM_020356		55012570	1	tier1	-	no_errors	ENST00000360314	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.584	G	G	55012570	A	G	55012570	2	3	44	1	0	0	0	0	0	0	0	1	2690	69	3	4		4	CASS4	20	55012570	Silent	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	11079267	55012570	8012950	268	10817											
KRTAP19-4	337971	genome.wustl.edu	37	chr21	31869189	31869189	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgactcaatatttggttaaAttgaatgatcttcttatgac	12	18	6	5	0	3	4	1	4	2	0	3	4	3	4	0	1	0	1	0	1	6	7			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr21:31869189A>G	ENST00000334058.2	-	1	262	c.240T>C	c.(238-240)aaT>aaC	p.N80N		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	80						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATTTGGTTAAATTGAATGATC	0.368																																																	0													174	172	173					21																	31869189		2203	4300	6503	SO:0001819	synonymous_variant	0			AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.240T>C	21.37:g.31869189A>G			Q17RT4|Q17RT6	Silent	SNP	pfam_KRTAP_type6/8/16/19/20	p.N80	ENST00000334058.2	37	c.240	CCDS33534.1	21																																																																																			KRTAP19-4	-	NULL	ENSG00000186967		0.368	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-4	HGNC	protein_coding	OTTHUMT00000128219.2	-	0	127	0	A			31869189	-1	tier1	-	no_errors	ENST00000334058	ensembl	human	known	74_37	silent	13.24	59	9	SNP	0.000	G	G	31869189	A	G	31869189	2	3	44	1	0	0	0	0	0	0	0	1	8558	98	4	4		4	KRTAP19-4	21	31869189	Silent	SNP	A	TCGA-JY-A93D-01A-11D-A387-09		31869189	16260706	269	10818											
KRTAP11-1	337880	genome.wustl.edu	37	chr21	32253565	32253565	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggtagttgagcaggggttGgaaatacaggtagtttgtcg	10	12	16	3	1	0	1	0	1	0	0	1	2	0	2	0	5	2	6	0	5	5	7			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr21:32253565G>T	ENST00000332378.4	-	1	309	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	93						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGCAGGGGTTGGAAATACAGG	0.577																																																	0													85	83	83					21																	32253565		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"Keratin associated proteins"	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.279C>A	21.37:g.32253565G>T			A1L4I8	Silent	SNP	pfam_KRTAP_PMG	p.S93	ENST00000332378.4	37	c.279	CCDS13608.1	21																																																																																			KRTAP11-1	-	pfam_KRTAP_PMG	ENSG00000182591		0.577	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1		0	25	0	G			32253565	-1			no_errors	ENST00000332378	ensembl	human	known	74_37	silent	13.33	13	2	SNP	0.533	T	T	32253565	G	T	32253565	2	4	44	1	0	0	0	0	0	0	0	1	8544	1335	47	3		3	KRTAP11-1	21	32253565	Silent	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	384376	32253565	15876330	270	10819											
MYO18B	84700	genome.wustl.edu	37	chr22	26348261	26348261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catacttacagctgcaggtgGctcagatgcgcatcgagtac	10	9	11	11	2	1	1	1	0	0	1	2	2	1	1	0	2	6	5	0	2	3	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr22:26348261G>T	ENST00000407587.2	+	38	6014	c.5845G>T	c.(5845-5847)Gct>Tct	p.A1949S	MYO18B_ENST00000536101.1_Missense_Mutation_p.A1948S|MYO18B_ENST00000335473.7_Missense_Mutation_p.A1948S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1948	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTGCAGGTGGCTCAGATGCG	0.552																																																	0													53	57	56					22																	26348261		2077	4217	6294	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5845G>T	22.37:g.26348261G>T	ENSP00000386096:p.Ala1949Ser		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1948S	ENST00000407587.2	37	c.5842		22	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155059	0.57259	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87887	-2.29;-2.29;-2.31	5.49	4.48	0.54585	.	0.325585	0.29940	N	0.010804	D	0.83303	0.5225	L	0.41236	1.265	0.28829	N	0.897246	P;P;P;P	0.45827	0.867;0.578;0.865;0.702	B;B;B;B	0.43838	0.433;0.171;0.421;0.321	T	0.81052	-0.1107	10	0.62326	D	0.03	.	12.7944	0.57551	0.0783:0.0:0.9217:0.0	.	1461;1948;1949;1948	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	S	1948;1948;1949	ENSP00000441229:A1948S;ENSP00000334563:A1948S;ENSP00000386096:A1949S	ENSP00000334563:A1948S	A	+	1	0	MYO18B	24678261	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.337000	0.43947	2.592000	0.87571	0.655000	0.94253	GCT	MYO18B	-	NULL	ENSG00000133454		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	39	0	G	NM_032608		26348261	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T	T	26348261	G	T	26348261	3	4	44	1	0	0	0	0	1	0	0	0	10104	1203	42	3	5988	3	MYO18B	22	26348261	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09		26348261	24956305	271	10820											
DEPDC5	9681	genome.wustl.edu	37	chr22	32206513	32206513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgtgtatttcagctctcgGgagtccaaaagaatctgaga	11	13	10	7	1	3	2	1	1	2	2	5	4	4	3	1	1	1	2	1	1	4	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr22:32206513G>T	ENST00000382112.3	+	19	1401	c.1331G>T	c.(1330-1332)gGg>gTg	p.G444V	DEPDC5_ENST00000400242.3_Missense_Mutation_p.G444V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.G416V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G444V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G444V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.G444V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G444V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G444V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G444V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G444V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	444					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGCTCTCGGGAGTCCAAAA	0.433																																																	0													78	72	74					22																	32206513		1829	4099	5928	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1331G>T	22.37:g.32206513G>T	ENSP00000371546:p.Gly444Val		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.G444V	ENST00000382112.3	37	c.1331	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	9.924	1.213073	0.22289	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.42513	1.55;1.55;0.97;1.94;1.94;1.93;1.53;1.95;1.93;1.94	5.61	4.6	0.57074	.	0.102956	0.64402	D	0.000002	T	0.53334	0.1790	L	0.54323	1.7	0.80722	D	1	P;D;D;P;P;B	0.76494	0.704;0.986;0.999;0.947;0.651;0.006	B;P;D;B;B;B	0.64144	0.162;0.76;0.922;0.382;0.122;0.005	T	0.48352	-0.9043	10	0.15066	T	0.55	.	13.6188	0.62126	0.0743:0.0:0.9257:0.0	.	444;416;444;444;444;444	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	V	444;416;444;444;444;444;444;444;444;444;444	ENSP00000440210:G444V;ENSP00000441358:G416V;ENSP00000383101:G444V;ENSP00000266091:G444V;ENSP00000383108:G444V;ENSP00000383105:G444V;ENSP00000371539:G444V;ENSP00000371546:G444V;ENSP00000371545:G444V;ENSP00000383107:G444V	ENSP00000266091:G444V	G	+	2	0	DEPDC5	30536513	1.000000	0.71417	0.170000	0.22879	0.282000	0.26991	7.389000	0.79806	1.388000	0.46506	0.555000	0.69702	GGG	DEPDC5	-	NULL	ENSG00000100150		0.433	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	-	0	78	0	G	NM_014662		32206513	1	tier1	-	no_errors	ENST00000266091	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.947	T	T	32206513	G	T	32206513	3	4	44	1	0	0	0	0	1	0	0	0	4456	1232	43	3	1405	3	DEPDC5	22	32206513	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	5858252	32206513	19098053	272	10821											
LGALS2	3957	genome.wustl.edu	37	chr22	37966318	37966318	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacccgccccttacgctCaggtagctcaggtggctgtg	6	10	12	13	2	2	1	2	1	0	0	2	1	2	1	3	3	3	4	3	3	3	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr22:37966318C>A	ENST00000215886.4	-	4	525	c.351G>T	c.(349-351)ctG>ctT	p.L117L		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	117	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)	p.L117L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CCCTTACGCTCAGGTAGCTCA	0.502																																					GBM(193;1840 2185 13711 20676 24505)												1	Substitution - coding silent(1)	lung(1)											91	94	93					22																	37966318		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"Lectins, galactoside-binding"	6562	protein-coding gene	gene with protein product	"galectin 2"	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.351G>T	22.37:g.37966318C>A			Q6FGY4	Silent	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.L117	ENST00000215886.4	37	c.351	CCDS13950.1	22																																																																																			LGALS2	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000100079		0.502	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS2	HGNC	protein_coding	OTTHUMT00000318991.1		0	47	0	C	NM_006498		37966318	-1			no_errors	ENST00000215886	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.064	A	A	37966318	C	A	37966318	2	1	44	1	0	0	0	0	0	0	0	1	8770	813	29	3		3	LGALS2	22	37966318	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	5759805	37966318	13338248	273	10822											
SOX10	6663	genome.wustl.edu	37	chr22	38369997	38369997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgggtgcccattgggCggcaggtactggtccaactc	5	9	15	12	1	0	0	0	0	0	0	2	0	1	0	3	6	3	2	3	6	2	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr22:38369997C>T	ENST00000396884.2	-	4	1188	c.906G>A	c.(904-906)ccG>ccA	p.P302P	POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000360880.2_Silent_p.P302P	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	302					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCCCATTGGGCGGCAGGTACT	0.602																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)												0													85	76	79					22																	38369997		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.906G>A	22.37:g.38369997C>T			B4DV62|Q6FHW7	Silent	SNP	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P302	ENST00000396884.2	37	c.906	CCDS13964.1	22																																																																																			SOX10	-	NULL	ENSG00000100146		0.602	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1		0	71	0	C	NM_006941		38369997	-1			no_errors	ENST00000360880	ensembl	human	known	74_37	silent	6.90	53	4	SNP	0.319	T	T	38369997	C	T	38369997	2	4	44	1	0	0	0	0	0	0	0	1	14986	755	27	1		1	SOX10	22	38369997	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	403679	38369997	12934569	274	10823											
PLA2G6	8398	genome.wustl.edu	37	chr22	38565366	38565366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccacctccttcaccCggaatgggttagagaacaag	12	6	9	14	1	1	1	1	0	0	1	2	3	2	2	5	2	2	1	5	2	4	2	rs34482513|rs372291638		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr22:38565366C>T	ENST00000332509.3	-	2	251	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	PLA2G6_ENST00000435484.1_Missense_Mutation_p.R23Q|PLA2G6_ENST00000447598.2_Missense_Mutation_p.R23Q|PLA2G6_ENST00000436218.1_Missense_Mutation_p.R23Q|PLA2G6_ENST00000417303.2_Missense_Mutation_p.R23Q|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R23Q|PLA2G6_ENST00000402064.1_Missense_Mutation_p.R23Q	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	23					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTCCTTCACCCGGAATGGGTT	0.602																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	86	70	76		68,68,68	4.6	1	22		76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PLA2G6	NM_001004426.1,NM_001199562.1,NM_003560.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	23/753,23/753,23/807	38565366	1,13005	2203	4300	6503	SO:0001583	missense	0			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.68G>A	22.37:g.38565366C>T	ENSP00000333142:p.Arg23Gln		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R23Q	ENST00000332509.3	37	c.68	CCDS13967.1	22	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773205	0.90108	0.0	1.16E-4	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461;ENST00000430886;ENST00000455341	T;T;T;T;T	0.78364	-0.01;0.04;0.04;1.01;-1.17	4.63	4.63	0.57726	.	0.063173	0.64402	D	0.000005	T	0.80565	0.4647	L	0.29908	0.895	0.29341	N	0.86603	D;D;D	0.69078	0.99;0.997;0.989	P;D;P	0.69479	0.629;0.964;0.621	T	0.76473	-0.2946	10	0.48119	T	0.1	-26.5384	14.3905	0.66975	0.0:1.0:0.0:0.0	.	23;23;23	B7Z6K3;O60733-2;O60733	.;.;PA2G6_HUMAN	Q	23	ENSP00000333142:R23Q;ENSP00000335149:R23Q;ENSP00000386100:R23Q;ENSP00000395464:R23Q;ENSP00000393761:R23Q	ENSP00000333142:R23Q	R	-	2	0	PLA2G6	36895312	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.826000	0.62715	2.128000	0.65567	0.555000	0.69702	CGG	PLA2G6	-	NULL	ENSG00000184381		0.602	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	-	0	31	0	C	NM_001004426		38565366	-1	tier1	-	no_errors	ENST00000332509	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	T	T	38565366	C	T	38565366	3	4	44	1	0	0	0	0	1	0	0	0	12047	652	23	1	2416	1	PLA2G6	22	38565366	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	195369	38565366	12739200	275	10824											
MGAT3	4248	genome.wustl.edu	37	chr22	39884893	39884893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcggcgggcgggtggcGccacaggggtcccgagggaa	6	2	21	12	6	0	0	0	0	0	0	1	2	1	1	2	8	0	0	2	8	1	0			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr22:39884893G>A	ENST00000341184.6	+	2	1756	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	514					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGCGGGTGGCGCCACAGGGGT	0.652																																																	0													14	18	17					22																	39884893		2170	4248	6418	SO:0001583	missense	0			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1541G>A	22.37:g.39884893G>A	ENSP00000345270:p.Arg514His		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.R514H	ENST00000341184.6	37	c.1541	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	g	14.43	2.532331	0.45073	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.38	2.1	0.27182	.	1.043170	0.07690	N	0.938582	T	0.26557	0.0649	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.25606	-1.0127	9	0.56958	D	0.05	.	6.7775	0.23628	0.2134:0.1268:0.6599:0.0	.	514	Q09327	MGAT3_HUMAN	H	514	.	ENSP00000345270:R514H	R	+	2	0	MGAT3	38214839	0.001000	0.12720	0.007000	0.13788	0.012000	0.07955	0.907000	0.28531	0.342000	0.23796	-0.127000	0.14921	CGC	MGAT3	-	NULL	ENSG00000128268		0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2		0	19	0	G	NM_002409		39884893	1			no_errors	ENST00000341184	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.012	A	A	39884893	G	A	39884893	3	1	44	1	0	0	0	0	1	0	0	0	9582	1087	38	1	1543	1	MGAT3	22	39884893	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	1319527	39884893	11419673	276	10825											
GRAP2	9402	genome.wustl.edu	37	chr22	40356069	40356069	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacagatggtttcacGaaggcctctctcgacaccag	9	7	9	16	2	2	1	1	0	1	1	4	3	2	1	4	2	0	1	4	2	1	1	rs138713668		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chr22:40356069G>T	ENST00000344138.4	+	4	444	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	GRAP2_ENST00000540310.1_Intron|RP3-370M22.8_ENST00000424496.1_RNA|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000407075.3_Nonsense_Mutation_p.E61*|GRAP2_ENST00000399090.2_Missense_Mutation_p.R4L|GRAP2_ENST00000543252.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	61	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ATGGTTTCACGAAGGCCTCTC	0.552																																																	0													301	317	311					22																	40356069		2203	4300	6503	SO:0001587	stop_gained	0			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.181G>T	22.37:g.40356069G>T	ENSP00000339186:p.Glu61*		B7Z8I3|O43726|Q9NRB7	Nonsense_Mutation	SNP	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.E61*	ENST00000344138.4	37	c.181	CCDS13999.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.725504|6.725504	0.97792|0.97792	.|.	.|.	ENSG00000100351|ENSG00000100351	ENST00000344138;ENST00000544006;ENST00000420971;ENST00000407075|ENST00000399090	.|T	.|0.56611	.|0.45	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.102676|.	0.64402|.	D|.	0.000004|.	.|T	.|0.62441	.|0.2428	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.48901	.|0.594	.|T	.|0.68093	.|-0.5500	.|8	0.05351|0.87932	T|D	0.99|0	-12.3951|-12.3951	19.2272|19.2272	0.93822|0.93822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4	.|B7Z8I3	.|.	X|L	61;35;61;61|4	.|ENSP00000382040:R4L	ENSP00000339186:E61X|ENSP00000382040:R4L	E|R	+|+	1|2	0|0	GRAP2|GRAP2	38686015|38686015	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.963000|0.963000	0.63663|0.63663	6.603000|6.603000	0.74145|0.74145	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GAA|CGA	GRAP2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000100351		0.552	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	HGNC	protein_coding	OTTHUMT00000321295.1		0	111	0	G	NM_004810		40356069	1			no_errors	ENST00000344138	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	40356069	G	T	40356069	4	4	44	1	0	0	0	0	0	1	0	0	6781	1059	37	2	191	2	GRAP2	22	40356069	Nonsense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	471176	40356069	10948497	277	10826											
DMD	1756	genome.wustl.edu	37	chrX	31224764	31224764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttttaaaagacaggacaCggatcctccctgttcgtccc	10	10	8	13	2	0	1	0	0	0	1	4	3	3	3	3	2	0	2	3	2	2	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:31224764C>T	ENST00000357033.4	-	66	9790	c.9584G>A	c.(9583-9585)cGt>cAt	p.R3195H	DMD_ENST00000541735.1_Missense_Mutation_p.R735H|DMD_ENST00000474231.1_Missense_Mutation_p.R735H|DMD_ENST00000378707.3_Missense_Mutation_p.R735H|DMD_ENST00000359836.1_Missense_Mutation_p.R735H|DMD_ENST00000378723.3_Missense_Mutation_p.R127H|DMD_ENST00000361471.4_Missense_Mutation_p.R127H|DMD_ENST00000378702.4_Missense_Mutation_p.R127H|DMD_ENST00000378677.2_Missense_Mutation_p.R3191H|DMD_ENST00000378680.2_Missense_Mutation_p.R127H|DMD_ENST00000343523.2_Missense_Mutation_p.R735H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3195	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R3190H(2)|p.R735H(2)|p.R1854H(1)|p.R3191P(1)|p.R3195P(1)|p.R127P(1)|p.R1854P(1)|p.R3190P(1)|p.R735P(1)|p.R3191H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGACAGGACACGGATCCTCCC	0.373																																																	12	Substitution - Missense(12)	large_intestine(6)|endometrium(6)											97	81	87					X																	31224764		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9584G>A	X.37:g.31224764C>T	ENSP00000354923:p.Arg3195His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R3195H	ENST00000357033.4	37	c.9584	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888553	0.91814	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680	T;T;T;T;T;T;T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.21	5.21	0.72293	EF-hand domain, type 1 (1);	0.000000	0.37053	U	0.002276	D	0.86314	0.5903	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.965;0.979;0.996;0.996;0.996;0.996;0.984;0.963;0.973;0.996;0.993;0.99;0.972;0.973;0.953;0.991	D	0.89765	0.3950	10	0.87932	D	0	.	17.8941	0.88881	0.0:1.0:0.0:0.0	.	127;3187;3195;3191;1854;1851;735;735;735;735;735;3072;127;127;127;127	B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	H	3187;1854;1851;127;891;3191;3195;735;735;3195;3072;735;735;127;735;127;127	ENSP00000367997:R127H;ENSP00000350765:R891H;ENSP00000367948:R3191H;ENSP00000354923:R3195H;ENSP00000352894:R735H;ENSP00000340057:R735H;ENSP00000367979:R735H;ENSP00000444119:R735H;ENSP00000367974:R127H;ENSP00000417123:R735H;ENSP00000354464:R127H;ENSP00000367951:R127H	ENSP00000340057:R735H	R	-	2	0	DMD	31134685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.458000	0.80787	2.415000	0.81967	0.600000	0.82982	CGT	DMD	-	pfam_EF-hand_dom_typ1,pirsf_Dystrophin/utrophin	ENSG00000198947		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	20	0	C	NM_004006		31224764	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T	T	31224764	C	T	31224764	3	4	44	1	0	0	0	0	1	0	0	0	4594	536	19	1	1619	1	DMD	23	31224764	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09		31224764	124045796	278	10827											
CYBB	1536	genome.wustl.edu	37	chrX	37655265	37655265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatcactggagttgtcaTcacgctgtgcctcatattaa	10	12	9	10	1	4	0	4	0	0	0	4	1	4	1	1	2	1	3	1	2	2	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:37655265T>C	ENST00000378588.4	+	6	612	c.545T>C	c.(544-546)aTc>aCc	p.I182T	CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.I150T	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	182	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	GGAGTTGTCATCACGCTGTGC	0.458																																																	0													169	126	141					X																	37655265		2202	4300	6502	SO:0001583	missense	0			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.545T>C	X.37:g.37655265T>C	ENSP00000367851:p.Ile182Thr		A8K138|Q2PP16	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.I182T	ENST00000378588.4	37	c.545	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860209	0.71834	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.90732	-2.72;-2.72	5.4	5.4	0.78164	Flavoprotein transmembrane component (1);	0.000000	0.85682	D	0.000000	D	0.95708	0.8604	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.972;0.999	D	0.96359	0.9264	10	0.87932	D	0	.	14.5291	0.67912	0.0:0.0:0.0:1.0	.	150;182	F5GWD2;P04839	.;CY24B_HUMAN	T	182;150	ENSP00000367851:I182T;ENSP00000441896:I150T	ENSP00000367851:I182T	I	+	2	0	CYBB	37540205	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	5.887000	0.69751	1.811000	0.52892	0.437000	0.28790	ATC	CYBB	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain	ENSG00000165168		0.458	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	-	0	29	0	T			37655265	1	tier1	-	no_errors	ENST00000378588	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	C	C	37655265	T	C	37655265	3	2	44	1	0	0	0	0	1	0	0	0	4142	1435	50	4	567	4	CYBB	23	37655265	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	6430501	37655265	117615295	279	10828											
CYBB	1536	genome.wustl.edu	37	chrX	37655341	37655341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactttgaagtcttttggtaCacacatcatctctttgtgat	9	18	6	8	0	3	2	1	2	2	0	4	2	3	2	0	1	2	1	0	1	3	6	rs371655268		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:37655341C>T	ENST00000378588.4	+	6	688	c.621C>T	c.(619-621)taC>taT	p.Y207Y	CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Silent_p.Y175Y	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	207	Ferric oxidoreductase.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TCTTTTGGTACACACATCATC	0.433																																																	0			GRCh37	CS920747	CYBB	S		C		0,3833		0,0,1631,571	249	182	205		621	3.7	1	X		205	1,6727		0,1,2427,1872	no	coding-synonymous	CYBB	NM_000397.3		0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095		207/571	37655341	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	0			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.621C>T	X.37:g.37655341C>T			A8K138|Q2PP16	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.Y207	ENST00000378588.4	37	c.621	CCDS14242.1	X																																																																																			CYBB	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain	ENSG00000165168		0.433	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	HGNC	protein_coding	OTTHUMT00000080881.1	-	0	50	0	C			37655341	1	tier1	-	no_errors	ENST00000378588	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	37655341	C	T	37655341	2	4	44	1	0	0	0	0	0	0	0	1	4142	489	17	3		3	CYBB	23	37655341	Silent	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	76	37655341	117615219	280	10829											
HUWE1	10075	genome.wustl.edu	37	chrX	53630391	53630391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accagggaacagtataactgGctcagcttgctcaaaacact	14	8	8	11	0	2	0	2	0	0	0	2	1	2	1	1	2	5	4	1	2	5	3			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:53630391G>T	ENST00000342160.3	-	26	3271	c.2814C>A	c.(2812-2814)agC>agA	p.S938R	HUWE1_ENST00000218328.8_Missense_Mutation_p.S938R|HUWE1_ENST00000262854.6_Missense_Mutation_p.S938R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	938					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGTATAACTGGCTCAGCTTGC	0.448																																																	0													108	83	91					X																	53630391		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2814C>A	X.37:g.53630391G>T	ENSP00000340648:p.Ser938Arg		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.S938R	ENST00000342160.3	37	c.2814	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950934	0.73787	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.51071	1.03;1.03;0.72	5.62	4.75	0.60458	.	0.124831	0.56097	D	0.000023	T	0.61763	0.2373	L	0.59436	1.845	0.51233	D	0.999913	D	0.76494	0.999	D	0.68765	0.96	T	0.63550	-0.6612	10	0.59425	D	0.04	.	11.9192	0.52783	0.0872:0.0:0.9128:0.0	.	938	Q7Z6Z7	HUWE1_HUMAN	R	938	ENSP00000340648:S938R;ENSP00000262854:S938R;ENSP00000218328:S938R	ENSP00000218328:S938R	S	-	3	2	HUWE1	53647116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.865000	0.48412	2.363000	0.80096	0.600000	0.82982	AGC	HUWE1	-	NULL	ENSG00000086758		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	34	0	G	XM_497119		53630391	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	53630391	G	T	53630391	3	4	44	1	0	0	0	0	1	0	0	0	7488	1194	42	3	10542	3	HUWE1	23	53630391	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	15975050	53630391	101640169	281	10830											
USP51	158880	genome.wustl.edu	37	chrX	55515146	55515146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctcgtcgccgccgctgCtgctccacgtcaagttctcc	3	11	8	19	5	3	0	1	0	2	0	7	0	4	0	5	0	2	4	5	0	1	2			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:55515146C>T	ENST00000500968.3	-	2	309	c.227G>A	c.(226-228)aGc>aAc	p.S76N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	76					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GCCGCCGCTGCTGCTCCACGT	0.667																																																	0													28	26	27					X																	55515146		2202	4300	6502	SO:0001583	missense	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.227G>A	X.37:g.55515146C>T	ENSP00000423333:p.Ser76Asn		Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.S76N	ENST00000500968.3	37	c.227	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	5.815	0.334627	0.11013	.	.	ENSG00000247746	ENST00000500968	T	0.10477	2.87	2.17	0.662	0.17880	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.20403	N	0.99991	B	0.10296	0.003	B	0.04013	0.001	T	0.37709	-0.9694	9	0.56958	D	0.05	.	4.4081	0.11420	0.0:0.71:0.0:0.29	.	76	Q70EK9	UBP51_HUMAN	N	76	ENSP00000423333:S76N	ENSP00000423333:S76N	S	-	2	0	USP51	55531871	0.603000	0.26924	0.417000	0.26559	0.778000	0.44026	0.084000	0.14891	0.105000	0.17753	0.424000	0.28305	AGC	USP51	-	NULL	ENSG00000247746		0.667	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	-	0	52	0	C	NM_201286		55515146	-1	tier1	-	no_errors	ENST00000500968	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.949	T	T	55515146	C	T	55515146	3	4	44	1	0	0	0	0	1	0	0	0	17132	797	28	3	1912	3	USP51	23	55515146	Missense_Mutation	SNP	C	TCGA-JY-A93D-01A-11D-A387-09	1884755	55515146	99755414	282	10831											
EDA2R	60401	genome.wustl.edu	37	chrX	65822517	65822517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactgcttgcagtagaggaAgaagagccccaggaaggcca	14	4	14	9	0	0	3	0	0	0	3	0	6	0	5	3	3	4	3	3	3	5	2	rs149166760		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:65822517A>C	ENST00000374719.3	-	5	531	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	EDA2R_ENST00000253392.5_Missense_Mutation_p.F159V|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000456230.2_Missense_Mutation_p.F159V|EDA2R_ENST00000396050.1_Missense_Mutation_p.F159V|EDA2R_ENST00000450752.1_Missense_Mutation_p.F159V	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	159					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CAGTAGAGGAAGAAGAGCCCC	0.532																																																	0													65	44	51					X																	65822517		2203	4299	6502	SO:0001583	missense	0			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.475T>G	X.37:g.65822517A>C	ENSP00000363851:p.Phe159Val		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27	p.F159V	ENST00000374719.3	37	c.475	CCDS14386.1	X	.	.	.	.	.	.	.	.	.	.	A	5.808	0.333320	0.11013	.	.	ENSG00000131080	ENST00000374719;ENST00000396050;ENST00000253392;ENST00000456230;ENST00000450752	T;T;D;T;D	0.81908	-1.49;-1.49;-1.55;-1.49;-1.55	4.37	3.13	0.36017	.	0.288450	0.25211	N	0.032312	T	0.66548	0.2800	L	0.27053	0.805	0.80722	D	1	B;B;B	0.23990	0.095;0.033;0.028	B;B;B	0.28465	0.09;0.015;0.004	T	0.56817	-0.7916	10	0.02654	T	1	-4.2761	6.5133	0.22234	0.784:0.0:0.0:0.216	.	159;159;159	Q9HAV5-2;B2RBZ9;Q9HAV5	.;.;TNR27_HUMAN	V	159	ENSP00000363851:F159V;ENSP00000379365:F159V;ENSP00000253392:F159V;ENSP00000393935:F159V;ENSP00000402929:F159V	ENSP00000253392:F159V	F	-	1	0	EDA2R	65739242	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.935000	0.28924	1.409000	0.46915	0.486000	0.48141	TTC	EDA2R	-	NULL	ENSG00000131080		0.532	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	HGNC	protein_coding	OTTHUMT00000057002.1	-	0	17	0	A	NM_021783		65822517	-1	tier1	-	no_errors	ENST00000253392	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.975	C	C	65822517	A	C	65822517	3	2	44	1	0	0	0	0	1	0	0	0	4918	72	3	4	426	4	EDA2R	23	65822517	Missense_Mutation	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	10307371	65822517	89448043	283	10832											
NAP1L2	4674	genome.wustl.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																								rs369450592		TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317																0																																										SO:0001651	inframe_deletion	0			AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	pfam_NAP_family	p.E221in_frame_del	ENST00000373517.3	37	c.665_663	CCDS14423.1	X																																																																																			NAP1L2	-	pfam_NAP_family	ENSG00000186462		0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L2	HGNC	protein_coding	OTTHUMT00000057225.1		0	23	0	TCC	NM_021963		72433666	-1	tier1		no_errors	ENST00000373517	ensembl	human	known	74_37	in_frame_del	14.71	29	5	DEL	0.004:0.003:0.000	-	-	72433666	TCC	-	72433664	7	5	44	1	0	1	0	1	0	0	0	0	10195	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-JY-A93D-01A-11D-A387-09	6611147	72433664	82836896	284	10833											
CAPN6	827	genome.wustl.edu	37	chrX	110494492	110494492	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgcgatctgatgcagTcagttgctgccactcttcag	6	14	10	11	1	5	1	2	1	3	0	5	2	5	1	1	0	4	4	1	0	0	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:110494492T>G	ENST00000324068.1	-	7	1083	c.916A>C	c.(916-918)Act>Cct	p.T306P	CAPN6_ENST00000541758.1_Missense_Mutation_p.T51P	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	306	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCTGATGCAGTCAGTTGCTGC	0.413																																																	0													41	35	37					X																	110494492		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.916A>C	X.37:g.110494492T>G	ENSP00000317214:p.Thr306Pro		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.T306P	ENST00000324068.1	37	c.916	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	T	11.55	1.673255	0.29693	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.87334	-2.24;-2.24	5.82	5.82	0.92795	Peptidase C2, calpain, catalytic domain (3);	0.102450	0.64402	D	0.000008	T	0.79992	0.4542	N	0.04959	-0.14	0.42596	D	0.993263	P	0.48230	0.907	P	0.48063	0.565	T	0.83025	-0.0165	10	0.41790	T	0.15	.	15.1414	0.72612	0.0:0.0:0.0:1.0	.	306	Q9Y6Q1	CAN6_HUMAN	P	306;51	ENSP00000317214:T306P;ENSP00000441736:T51P	ENSP00000317214:T306P	T	-	1	0	CAPN6	110381148	1.000000	0.71417	0.995000	0.50966	0.338000	0.28826	4.663000	0.61532	1.958000	0.56883	0.430000	0.28490	ACT	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000077274		0.413	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0	42	0	T			110494492	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	G	G	110494492	T	G	110494492	3	3	44	1	0	0	0	0	1	0	0	0	2637	1667	58	4	1037	4	CAPN6	23	110494492	Missense_Mutation	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	38060828	110494492	44776068	285	10834											
ALG13	79868	genome.wustl.edu	37	chrX	110952267	110952267	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagggaaaatcaacaaacTtttgagtctgtaagtagaat	17	11	9	4	0	2	3	1	2	1	1	2	4	2	4	0	1	2	2	0	1	7	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:110952267T>A	ENST00000394780.3	+	5	837	c.825T>A	c.(823-825)acT>acA	p.T275T	ALG13_ENST00000251943.4_Silent_p.T171T|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	275	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						ATCAACAAACTTTTGAGTCTG	0.393																																																	0													90	74	79					X																	110952267		1568	3578	5146	SO:0001819	synonymous_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.825T>A	X.37:g.110952267T>A			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.T171	ENST00000394780.3	37	c.513	CCDS55477.1	X																																																																																			ALG13	-	pfam_OTU,pfscan_OTU	ENSG00000101901		0.393	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	-	0	48	0	T	NM_018466		110952267	1	tier1	-	no_errors	ENST00000251943	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.288	A	A	110952267	T	A	110952267	2	1	44	1	0	0	0	0	0	0	0	1	515	1596	56	5		5	ALG13	23	110952267	Silent	SNP	T	TCGA-JY-A93D-01A-11D-A387-09	457775	110952267	44318293	286	10835											
MCF2	4168	genome.wustl.edu	37	chrX	138667261	138667261	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcttcattttcatcataAgtagggtagaaatagttgct	11	17	7	6	0	5	1	3	0	2	1	5	1	5	1	0	1	1	4	0	1	5	9			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:138667261A>G	ENST00000370576.4	-	24	2918	c.2709T>C	c.(2707-2709)acT>acC	p.T903T	MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370578.4_Silent_p.T1048T|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Silent_p.T919T|MCF2_ENST00000520602.1_Silent_p.T963T|MCF2_ENST00000414978.1_Silent_p.T963T|MCF2_ENST00000519895.1_Silent_p.T979T	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	903					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTTCATCATAAGTAGGGTAGA	0.363																																																	0													165	160	162					X																	138667261		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2709T>C	X.37:g.138667261A>G			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T1048	ENST00000370576.4	37	c.3144	CCDS14667.1	X																																																																																			MCF2	-	NULL	ENSG00000101977		0.363	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	-	0	51	0	A	NM_005369		138667261	-1	tier1	-	no_errors	ENST00000370578	ensembl	human	known	74_37	silent	32.26	41	20	SNP	0.000	G	G	138667261	A	G	138667261	2	3	44	1	0	0	0	0	0	0	0	1	9416	59	3	4		4	MCF2	23	138667261	Silent	SNP	A	TCGA-JY-A93D-01A-11D-A387-09	27714994	138667261	16603299	287	10836											
GDI1	2664	genome.wustl.edu	37	chrX	153668793	153668793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtccctggcccggtatgGcaagagcccatatttatacc	9	10	10	12	1	0	2	0	1	0	1	1	2	1	2	4	3	2	2	4	3	5	5			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:153668793G>A	ENST00000447750.2	+	6	994	c.659G>A	c.(658-660)gGc>gAc	p.G220D		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	220					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCGGTATGGCAAGAGCCCA	0.557																																																	0													113	97	103					X																	153668793		2203	4300	6503	SO:0001583	missense	0			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"mental retardation, X-linked 41", "mental retardation, X-linked 48", "rab GDP-dissociation inhibitor, alpha"	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.659G>A	X.37:g.153668793G>A	ENSP00000394071:p.Gly220Asp		P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.G220D	ENST00000447750.2	37	c.659	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	G	31	5.104700	0.94245	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.87412	-2.25	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	M	0.78456	2.415	0.80722	D	1	P	0.51057	0.941	P	0.62298	0.9	D	0.93332	0.6702	10	0.66056	D	0.02	-22.2056	16.0507	0.80760	0.0:0.0:1.0:0.0	.	220	P31150	GDIA_HUMAN	D	220;204	ENSP00000394071:G220D	ENSP00000358756:G204D	G	+	2	0	GDI1	153321987	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.797000	0.99108	2.391000	0.81399	0.600000	0.82982	GGC	GDI1	-	pfam_GDP_dissociation_inhibitor,prints_GDP_dissociation_inhibitor	ENSG00000203879		0.557	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	-	0	32	0	G	NM_001493		153668793	1	tier1	-	no_errors	ENST00000447750	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A	A	153668793	G	A	153668793	3	1	44	1	0	0	0	0	1	0	0	0	6346	1203	42	3	681	3	GDI1	23	153668793	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	15001532	153668793	1601767	288	10837											
F8	2157	genome.wustl.edu	37	chrX	154158656	154158656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccttgcccagagttcaGagagttctttccatgagtcc	7	11	12	11	0	2	3	1	1	1	2	4	4	4	3	4	2	1	2	4	2	0	4			TCGA-JY-A93D-01A-11D-A387-09	TCGA-JY-A93D-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	47f5b536-9d6f-4d88-a50c-c21574548e75	da2df177-c57c-4de1-882c-07f7a1b1c4db	g.chrX:154158656G>T	ENST00000360256.4	-	14	3609	c.3409C>A	c.(3409-3411)Ctg>Atg	p.L1137M		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1137	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCAGAGTTCAGAGAGTTCTTT	0.423																																																	0													65	66	65					X																	154158656		2203	4298	6501	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3409C>A	X.37:g.154158656G>T	ENSP00000353393:p.Leu1137Met		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.L1137M	ENST00000360256.4	37	c.3409	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	g	7.332	0.619054	0.14129	.	.	ENSG00000185010	ENST00000360256	D	0.99239	-5.61	5.47	-1.14	0.09741	.	1.400650	0.04732	N	0.421324	D	0.98902	0.9628	M	0.72118	2.19	0.09310	N	1	D	0.71674	0.998	P	0.61940	0.896	D	0.95280	0.8385	10	0.40728	T	0.16	-0.3018	3.5095	0.07703	0.2661:0.0:0.3004:0.4334	.	1137	P00451	FA8_HUMAN	M	1137	ENSP00000353393:L1137M	ENSP00000353393:L1137M	L	-	1	2	F8	153811850	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.070000	0.14573	-0.382000	0.07870	0.597000	0.82753	CTG	F8	-	NULL	ENSG00000185010		0.423	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4		0	15	0	G			154158656	-1			no_errors	ENST00000360256	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.000	T	T	154158656	G	T	154158656	3	4	44	1	0	0	0	0	1	0	0	0	5366	933	33	3	3726	3	F8	23	154158656	Missense_Mutation	SNP	G	TCGA-JY-A93D-01A-11D-A387-09	489863	154158656	1111904	289	10838											
SDF4	51150	genome.wustl.edu	37	chr1	1164049	1164049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactctctctcgagtggacGagtggttggcaggccgtgca	6	10	14	11	3	2	0	0	0	2	0	4	3	2	1	1	4	2	3	1	4	1	2	rs572222634		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:1164049G>A	ENST00000360001.6	-	2	387	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SDF4_ENST00000263741.7_Missense_Mutation_p.S42L|SDF4_ENST00000545427.1_Missense_Mutation_p.S42L|SDF4_ENST00000459994.2_5'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	42					calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TCGAGTGGACGAGTGGTTGGC	0.642																																																	0													114	89	98					1																	1164049		2202	4300	6502	SO:0001583	missense	0				CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"EF-hand domain containing"	24188	protein-coding gene	gene with protein product	"calcium binding protein"	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.125C>T	1.37:g.1164049G>A	ENSP00000353094:p.Ser42Leu		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.S42L	ENST00000360001.6	37	c.125	CCDS30553.1	1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779505	0.49891	.	.	ENSG00000078808	ENST00000360001;ENST00000263741;ENST00000545427	T;T;T	0.08807	3.05;3.05;3.05	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000001	T	0.25158	0.0611	M	0.71581	2.175	0.80722	D	1	D;P	0.76494	0.999;0.921	P;B	0.60345	0.873;0.184	T	0.02263	-1.1186	10	0.72032	D	0.01	-8.9118	16.2023	0.82088	0.0:0.0:1.0:0.0	.	42;42	Q9BRK5-6;Q9BRK5	.;CAB45_HUMAN	L	42	ENSP00000353094:S42L;ENSP00000263741:S42L;ENSP00000444451:S42L	ENSP00000263741:S42L	S	-	2	0	SDF4	1153912	1.000000	0.71417	0.905000	0.35620	0.216000	0.24613	8.556000	0.90697	2.049000	0.60858	0.511000	0.50034	TCG	SDF4	-	NULL	ENSG00000078808		0.642	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDF4	HGNC	protein_coding	OTTHUMT00000005064.1	-	0	16	0	G	NM_016176		1164049	-1	tier1	-	no_errors	ENST00000360001	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.998	A	A	1164049	G	A	1164049	3	1	45	1	0	0	0	0	1	0	0	0	14007	1059	37	1	1103	1	SDF4	1	1164049	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		1164049	248086572	1	10839											
DFFB	1677	genome.wustl.edu	37	chr1	3775330	3775330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtacgaggatggcacggagCtgacggaagattacttcccc	10	8	13	10	3	0	2	0	1	0	1	1	6	1	5	2	4	3	3	2	4	3	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:3775330C>T	ENST00000378209.3	+	2	486	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	DFFB_ENST00000338895.3_Silent_p.L55L|CEP104_ENST00000378223.3_5'Flank|DFFB_ENST00000341385.3_Silent_p.L55L|DFFB_ENST00000378212.2_Silent_p.L55L|CEP104_ENST00000378230.3_5'Flank	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	55	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TGGCACGGAGCTGACGGAAGA	0.632																																																	0													71	66	68					1																	3775330		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.163C>T	1.37:g.3775330C>T			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.L55	ENST00000378209.3	37	c.163	CCDS52.1	1																																																																																			DFFB	-	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	ENSG00000169598		0.632	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	HGNC	protein_coding	OTTHUMT00000009821.2	-	0	20	0	C	NM_001282669		3775330	1	tier1	-	no_errors	ENST00000378209	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.473	T	T	3775330	C	T	3775330	2	4	45	1	0	0	0	0	0	0	0	1	4467	796	28	3		3	DFFB	1	3775330	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2611281	3775330	245475291	2	10840											
CHD5	26038	genome.wustl.edu	37	chr1	6191703	6191703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggtaccattgaatctgtCgattgcctcctgccggaggc	6	10	14	11	2	1	1	0	1	1	0	3	3	2	2	4	4	3	1	4	4	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:6191703C>T	ENST00000262450.3	-	21	3349	c.3250G>A	c.(3250-3252)Gac>Aac	p.D1084N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.D1084N(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGAATCTGTCGATTGCCTCC	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											82	76	78					1																	6191703		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.3250G>A	1.37:g.6191703C>T	ENSP00000262450:p.Asp1084Asn		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D1084N	ENST00000262450.3	37	c.3250	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654638	0.67472	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.91180	-2.8	5.09	4.16	0.48862	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.91915	0.7440	L	0.39397	1.21	0.80722	D	1	D	0.65815	0.995	P	0.60012	0.867	D	0.92808	0.6262	10	0.87932	D	0	-41.5577	15.7116	0.77631	0.0:0.8625:0.1375:0.0	.	1084	Q8TDI0	CHD5_HUMAN	N	1084;600;492;492	ENSP00000262450:D1084N	ENSP00000262450:D1084N	D	-	1	0	CHD5	6114290	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	7.699000	0.84547	1.242000	0.43836	0.561000	0.74099	GAC	CHD5	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000116254		0.572	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2		0	15	0	C	NM_015557		6191703	-1			no_errors	ENST00000262450	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	6191703	C	T	6191703	3	4	45	1	0	0	0	0	1	0	0	0	3335	884	31	1	2698	1	CHD5	1	6191703	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2416373	6191703	243058918	3	10841											
SLC2A7	155184	genome.wustl.edu	37	chr1	9070276	9070276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccagcaggaggtgccGccgtcccagccgctccacaa	7	3	13	18	4	0	0	0	0	0	0	2	1	2	1	7	3	3	2	7	3	1	0	rs370854911		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:9070276G>A	ENST00000400906.1	-	9	1041	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	348					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGGAGGTGCCGCCGTCCCAGC	0.677																																																	0								G	TRP/ARG	0,3886		0,0,1943	13	11	12		1042	1.1	0	1		12	1,7723		0,1,3861	no	missense	SLC2A7	NM_207420.2	101	0,1,5804	AA,AG,GG		0.0129,0.0,0.0086	probably-damaging	348/513	9070276	1,11609	1943	3862	5805	SO:0001583	missense	0			AL356306	CCDS98.2	1p36.2	2013-05-22			ENSG00000197241	ENSG00000197241		"Solute carriers"	13445	protein-coding gene	gene with protein product	"intestinal facilitative glucose transporter 7"	610371				11780753	Standard	NM_207420		Approved	GLUT7	uc009vmo.1	Q6PXP3	OTTHUMG00000057499	ENST00000400906.1:c.1042C>T	1.37:g.9070276G>A	ENSP00000383698:p.Arg348Trp		A2A333	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.R348W	ENST00000400906.1	37	c.1042	CCDS98.2	1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196418	0.38806	0.0	1.29E-4	ENSG00000197241	ENST00000400906	D	0.84873	-1.91	4.14	1.07	0.20283	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.073712	0.56097	D	0.000038	D	0.92123	0.7503	H	0.94620	3.56	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82721	-0.0317	10	0.87932	D	0	.	3.6925	0.08351	0.1956:0.0:0.4708:0.3336	.	348	Q6PXP3	GTR7_HUMAN	W	348	ENSP00000383698:R348W	ENSP00000383698:R348W	R	-	1	2	SLC2A7	8992863	0.003000	0.15002	0.006000	0.13384	0.307000	0.27823	0.338000	0.19858	0.378000	0.24764	0.491000	0.48974	CGG	SLC2A7	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000197241		0.677	SLC2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A7	HGNC	protein_coding	OTTHUMT00000127768.3	-	0	23	0	G	NM_207420		9070276	-1	tier1	-	no_errors	ENST00000400906	ensembl	human	known	74_37	missense	37.62	60	38	SNP	0.003	A	A	9070276	G	A	9070276	3	1	45	1	0	0	0	0	1	0	0	0	14595	1086	38	1	512	1	SLC2A7	1	9070276	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2878573	9070276	240180345	4	10842											
CASZ1	54897	genome.wustl.edu	37	chr1	10725216	10725216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctcctccagggcaccGccgtccttggagggctcctc	3	10	10	18	2	1	0	0	0	1	0	7	1	5	1	7	3	0	2	7	3	0	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:10725216G>A	ENST00000377022.3	-	5	746	c.429C>T	c.(427-429)ggC>ggT	p.G143G	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Silent_p.G143G	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	143					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCAGGGCACCGCCGTCCTTGG	0.692																																																	0													47	42	44					1																	10725216		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.429C>T	1.37:g.10725216G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G143	ENST00000377022.3	37	c.429	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.692	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	19	0	G	NM_017766		10725216	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	19.12	55	13	SNP	0.835	A	A	10725216	G	A	10725216	2	1	45	1	0	0	0	0	0	0	0	1	2692	1074	38	1		1	CASZ1	1	10725216	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1654940	10725216	238525405	5	10843											
NBPF1	55672	genome.wustl.edu	37	chr1	16895640	16895640	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgtaagacttgtacgAggccaacatttcaggaggaa	12	8	12	9	2	1	1	1	0	0	1	1	4	1	3	2	3	2	3	2	3	4	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:16895640A>T	ENST00000430580.2	-	23	3429	c.2542T>A	c.(2542-2544)Tcg>Acg	p.S848T	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	848	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GACTTGTACGAGGCCAACATT	0.488																																																	0													157	167	164					1																	16895640		1961	4092	6053	SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2542T>A	1.37:g.16895640A>T	ENSP00000474456:p.Ser848Thr		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	pfam_NBPF_dom	p.S848T	ENST00000430580.2	37	c.2542		1																																																																																			NBPF1	-	pfam_NBPF_dom	ENSG00000219481		0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	-	0	136	0	A	NM_017940		16895640	-1	tier1	-	no_errors	ENST00000430580	ensembl	human	novel	74_37	missense	9.05	541	54	SNP	0.000	T	T	16895640	A	T	16895640	3	4	45	1	0	0	0	0	1	0	0	0	10230	304	11	5	910	5	NBPF1	1	16895640	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	6170424	16895640	232354981	6	10844											
CDC42	998	genome.wustl.edu	37	chr1	22416504	22416504	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccggaaactcaacccaaAaggaagtgctgtatattcta	14	9	7	11	1	2	0	1	0	1	0	3	2	3	2	3	2	3	2	3	2	8	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:22416504A>T	ENST00000344548.3	+	7	737				CDC42_ENST00000421089.2_Intron|CDC42_ENST00000315554.8_Missense_Mutation_p.K185N|CDC42_ENST00000400259.1_Intron	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42						actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCAACCCAAAAGGAAGTGCT	0.443																																																	0													107	91	96					1																	22416504		2203	4300	6503	SO:0001627	intron_variant	0			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.487-1417A>T	1.37:g.22416504A>T			P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K185N	ENST00000344548.3	37	c.555	CCDS221.1	1	.	.	.	.	.	.	.	.	.	.	a	10.30	1.312115	0.23821	.	.	ENSG00000070831	ENST00000315554	T	0.68181	-0.31	5.96	4.84	0.62591	.	.	.	.	.	T	0.58566	0.2131	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.12837	0.008	T	0.55679	-0.8103	8	0.62326	D	0.03	.	11.0138	0.47677	0.9269:0.0:0.0731:0.0	.	185	P60953-1	.	N	185	ENSP00000314458:K185N	ENSP00000314458:K185N	K	+	3	2	CDC42	22289091	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.466000	0.53071	1.084000	0.41184	-0.263000	0.10527	AAA	CDC42	-	superfamily_P-loop_NTPase	ENSG00000070831		0.443	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC42	HGNC	protein_coding	OTTHUMT00000007787.1		0	15	0	A	NM_001791		22416504	1			no_errors	ENST00000315554	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	22416504	A	T	22416504	1	4	45	0	1	0	0	0	0	0	0	0	3078	11	1	5		5	CDC42	1	22416504	Intron	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	5520864	22416504	226834117	7	10845											
EPHB2	2048	genome.wustl.edu	37	chr1	23236980	23236980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaggaccgcaaccacCggcccaagttcggccaaatt	12	4	11	14	3	0	1	0	0	0	1	1	2	0	2	5	4	1	3	5	4	4	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:23236980C>T	ENST00000400191.3	+	14	2626	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	EPHB2_ENST00000374630.3_Missense_Mutation_p.R870W|EPHB2_ENST00000374627.1_Missense_Mutation_p.R865W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R871W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	870	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCGCAACCACCGGCCCAAGTT	0.602																																																	0													118	86	97					1																	23236980		2203	4300	6503	SO:0001583	missense	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2608C>T	1.37:g.23236980C>T	ENSP00000383053:p.Arg870Trp		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R870W	ENST00000400191.3	37	c.2608		1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626024	0.66901	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.55	1.43	0.22495	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	H	0.99825	4.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95933	0.8940	10	0.87932	D	0	.	12.767	0.57396	0.5541:0.4459:0.0:0.0	.	812;870;888;871	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	W	812;870;870;871;865	ENSP00000363761:R870W;ENSP00000383053:R870W;ENSP00000363763:R871W;ENSP00000363758:R865W	ENSP00000363755:R812W	R	+	1	2	EPHB2	23109567	0.994000	0.37717	1.000000	0.80357	0.987000	0.75469	0.567000	0.23608	0.208000	0.20626	0.485000	0.47835	CGG	EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000133216		0.602	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2		0	20	0	C	NM_017449		23236980	1			no_errors	ENST00000400191	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.997	T	T	23236980	C	T	23236980	3	4	45	1	0	0	0	0	1	0	0	0	5191	643	23	1	2665	1	EPHB2	1	23236980	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	820476	23236980	226013641	8	10846											
HTR1D	3352	genome.wustl.edu	37	chr1	23519770	23519770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaccacgaagaagggcaGccagcagatgataaaggccc	16	2	12	11	1	0	4	0	1	0	3	0	5	0	4	3	2	2	2	3	2	4	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:23519770G>T	ENST00000374619.1	-	1	1452	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	HTR1D_ENST00000314113.3_Missense_Mutation_p.L315M	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	315	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AAGAAGGGCAGCCAGCAGATG	0.547																																																	0													126	120	122					1																	23519770		2203	4300	6503	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.943C>A	1.37:g.23519770G>T	ENSP00000363748:p.Leu315Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.L315M	ENST00000374619.1	37	c.943	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466954	0.43839	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.76060	-0.99;-0.99	5.34	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	D	0.86134	0.5860	M	0.87758	2.905	0.46478	D	0.999061	D	0.89917	1.0	D	0.97110	1.0	D	0.85457	0.1164	10	0.87932	D	0	.	11.3104	0.49360	0.2643:0.0:0.7357:0.0	.	315	P28221	5HT1D_HUMAN	M	315	ENSP00000313661:L315M;ENSP00000363748:L315M	ENSP00000313661:L315M	L	-	1	2	HTR1D	23392357	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	3.066000	0.50002	0.007000	0.14760	-1.761000	0.00669	CTG	HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179546		0.547	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	-	0	19	0	G	NM_000864		23519770	-1	tier1	-	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	33.33	32	16	SNP	1.000	T	T	23519770	G	T	23519770	3	4	45	1	0	0	0	0	1	0	0	0	7465	962	34	3	194	3	HTR1D	1	23519770	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	282790	23519770	225730851	9	10847											
COL16A1	1307	genome.wustl.edu	37	chr1	32164106	32164106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggatacccatttgcatcgGtcacttgaaacagataccac	12	10	8	11	1	1	2	1	1	0	1	2	3	1	3	2	2	4	1	2	2	3	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:32164106G>T	ENST00000373672.3	-	5	884	c.368C>A	c.(367-369)aCc>aAc	p.T123N	COL16A1_ENST00000373668.3_Missense_Mutation_p.T123N|COL16A1_ENST00000271069.6_Missense_Mutation_p.T123N	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	123	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		ATTTGCATCGGTCACTTGAAA	0.552																																					Colon(143;498 1786 21362 25193 36625)												0													128	132	130					1																	32164106		2029	4186	6215	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.368C>A	1.37:g.32164106G>T	ENSP00000362776:p.Thr123Asn		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.T123N	ENST00000373672.3	37	c.368	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092245	0.36952	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.71698	-0.59;-0.59;-0.59	4.7	3.78	0.43462	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.245360	0.35555	N	0.003137	T	0.69762	0.3147	L	0.29908	0.895	0.30819	N	0.738045	D;B	0.69078	0.997;0.308	P;B	0.61003	0.882;0.127	T	0.70281	-0.4915	10	0.87932	D	0	.	7.9464	0.29989	0.0882:0.1619:0.7499:0.0	.	123;123	A6NCT7;Q07092	.;COGA1_HUMAN	N	123	ENSP00000362776:T123N;ENSP00000271069:T123N;ENSP00000362772:T123N	ENSP00000271069:T123N	T	-	2	0	COL16A1	31936693	0.995000	0.38212	0.863000	0.33907	0.577000	0.36160	2.350000	0.44063	1.339000	0.45563	0.561000	0.74099	ACC	COL16A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000084636		0.552	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2		0	25	0	G	NM_001856		32164106	-1			no_errors	ENST00000271069	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.826	T	T	32164106	G	T	32164106	3	4	45	1	0	0	0	0	1	0	0	0	3680	1261	44	3	4714	3	COL16A1	1	32164106	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	8644336	32164106	217086515	10	10848											
SPOCD1	90853	genome.wustl.edu	37	chr1	32256313	32256313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaagggcgctagacaaaCgctgcagagggcgggggatg	10	4	18	9	3	0	2	0	0	0	2	0	3	0	3	0	4	3	4	0	4	3	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:32256313C>T	ENST00000360482.2	-	16	3671	c.3542G>A	c.(3541-3543)cGt>cAt	p.R1181H	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R661H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R1168H|RP11-84A19.3_ENST00000527035.1_RNA	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1181					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GCTAGACAAACGCTGCAGAGG	0.637																																																	0																																										SO:0001583	missense	0			AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 146"					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.3542G>A	1.37:g.32256313C>T	ENSP00000353670:p.Arg1181His		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M	p.R1181H	ENST00000360482.2	37	c.3542	CCDS347.1	1	.	.	.	.	.	.	.	.	.	.	C	2.041	-0.419982	0.04734	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000452755;ENST00000533231	T;T;T;T	0.45276	0.91;1.9;0.9;1.9	3.01	-1.32	0.09201	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23261	-1.0193	9	0.19590	T	0.45	10.5699	4.0528	0.09803	0.1831:0.1207:0.0:0.6962	.	1168;604;1181	Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;SPOC1_HUMAN	H	661;1181;604;1168	ENSP00000257100:R661H;ENSP00000353670:R1181H;ENSP00000399778:R604H;ENSP00000435851:R1168H	ENSP00000257100:R661H	R	-	2	0	SPOCD1	32028900	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.625000	0.05534	-0.197000	0.10350	-1.384000	0.01168	CGT	SPOCD1	-	NULL	ENSG00000134668		0.637	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCD1	HGNC	protein_coding	OTTHUMT00000381912.1	-	0	24	0	C	NM_144569		32256313	-1	tier1	-	no_errors	ENST00000360482	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.001	T	T	32256313	C	T	32256313	3	4	45	1	0	0	0	0	1	0	0	0	15125	536	19	1	112	1	SPOCD1	1	32256313	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	92207	32256313	216994308	11	10849											
KDM4A	9682	genome.wustl.edu	37	chr1	44132178	44132178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctccgccacaagatgacCctgatttccccgttaatgct	8	13	6	14	2	1	3	0	2	1	1	3	3	2	3	5	0	1	2	5	0	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:44132178C>T	ENST00000372396.3	+	7	863	c.729C>T	c.(727-729)acC>acT	p.T243T	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	243	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ACAAGATGACCCTGATTTCCC	0.458																																																	0													103	91	95					1																	44132178		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.729C>T	1.37:g.44132178C>T			Q5VVB1	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.T243	ENST00000372396.3	37	c.729	CCDS491.1	1																																																																																			KDM4A	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000066135		0.458	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0	21	0	C	NM_014663		44132178	1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	silent	20.69	46	12	SNP	0.986	T	T	44132178	C	T	44132178	2	4	45	1	0	0	0	0	0	0	0	1	8155	610	22	3		3	KDM4A	1	44132178	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	11875865	44132178	205118443	12	10850											
IPO13	9670	genome.wustl.edu	37	chr1	44422098	44422098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctcccatggcatctgtCgcatcgctgtggccctgggc	5	9	12	15	2	1	1	0	0	1	1	4	1	2	1	3	3	0	3	3	3	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:44422098C>T	ENST00000372343.3	+	3	1590	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	310					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TGGCATCTGTCGCATCGCTGT	0.597																																																	0													70	65	66					1																	44422098		2203	4300	6503	SO:0001583	missense	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"Importins"	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.928C>T	1.37:g.44422098C>T	ENSP00000361418:p.Arg310Cys		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R310C	ENST00000372343.3	37	c.928	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608236	0.87258	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.75	5.75	0.90469	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	P	0.61722	0.893	T	0.74996	-0.3473	9	0.52906	T	0.07	-13.1918	19.9442	0.97176	0.0:1.0:0.0:0.0	.	310	O94829	IPO13_HUMAN	C	310	.	ENSP00000361418:R310C	R	+	1	0	IPO13	44194685	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.770000	0.85390	2.721000	0.93114	0.511000	0.50034	CGC	IPO13	-	superfamily_ARM-type_fold	ENSG00000117408		0.597	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	-	0	10	0	C	NM_014652		44422098	1	tier1	-	no_errors	ENST00000372343	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	T	T	44422098	C	T	44422098	3	4	45	1	0	0	0	0	1	0	0	0	7821	884	31	1	938	1	IPO13	1	44422098	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	289920	44422098	204828523	13	10851											
INADL	10207	genome.wustl.edu	37	chr1	62240965	62240965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggaaaaacaagtggcGtggttgtgaggactatagtt	12	11	15	3	1	0	1	0	1	0	0	0	4	0	4	0	5	1	2	0	5	5	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:62240965G>A	ENST00000371158.2	+	7	922	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	INADL_ENST00000316485.6_Missense_Mutation_p.V270M	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	270	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACAAGTGGCGTGGTTGTGAG	0.383																																																	0													266	257	260					1																	62240965		2203	4300	6503	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.808G>A	1.37:g.62240965G>A	ENSP00000360200:p.Val270Met		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.V270M	ENST00000371158.2	37	c.808	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974298	0.74246	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.32023	1.47;1.47	5.4	5.4	0.78164	PDZ/DHR/GLGF (4);	0.081857	0.48286	D	0.000196	T	0.66056	0.2751	M	0.91920	3.255	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.998	P;D;P	0.91635	0.801;0.999;0.907	T	0.73232	-0.4048	10	0.56958	D	0.05	.	19.1768	0.93605	0.0:0.0:1.0:0.0	.	270;270;270	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	M	270	ENSP00000360200:V270M;ENSP00000326199:V270M	ENSP00000255202:V270M	V	+	1	0	INADL	62013553	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.349000	0.79376	2.531000	0.85337	0.655000	0.94253	GTG	INADL	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132849		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	-	0	27	0	G	NM_170605		62240965	1	tier1	-	no_errors	ENST00000371158	ensembl	human	known	74_37	missense	45.00	55	45	SNP	0.999	A	A	62240965	G	A	62240965	3	1	45	1	0	0	0	0	1	0	0	0	7758	1145	40	1	830	1	INADL	1	62240965	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	17818867	62240965	187009656	14	10852											
TNNI3K	100144878	genome.wustl.edu	37	chr1	74954920	74954920	+	Intron	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagttagaagagtgtctCtgcaacattgaggtaaaagc	15	10	11	5	0	1	4	0	2	1	2	2	4	1	4	0	1	3	3	0	1	6	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:74954920C>A	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Silent_p.L837L|TNNI3K_ENST00000326637.3_Silent_p.L723L|TNNI3K_ENST00000370891.2_Silent_p.L824L			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)		p.L723L(1)		NS(1)|breast(1)|lung(2)	4						AAGAGTGTCTCTGCAACATTG	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											75	86	82					1																	74954920		2203	4300	6503	SO:0001627	intron_variant	0					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5861G>T	1.37:g.74954920C>A				Silent	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L837	ENST00000294635.4	37	c.2511		1																																																																																			FPGT-TNNI3K	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000259030		0.383	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026515.2	-	0	13	0	C			74954920	1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	silent	28.95	54	22	SNP	0.993	A	A	74954920	C	A	74954920	1	1	45	0	1	0	0	0	0	0	0	0	16376	900	32	3		3	TNNI3K	1	74954920	Intron	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	12713955	74954920	174295701	15	10853											
FUBP1	8880	genome.wustl.edu	37	chr1	78414982	78414982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggagcaggaactgccTgacctttgaaaaaaaagaac	16	6	10	9	1	0	3	0	2	0	1	1	5	0	5	2	2	4	1	2	2	6	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:78414982T>C	ENST00000370768.2	-	19	1865	c.1784A>G	c.(1783-1785)cAg>cGg	p.Q595R	FUBP1_ENST00000489495.1_5'Flank|FUBP1_ENST00000436586.2_Missense_Mutation_p.Q616R|FUBP1_ENST00000370767.1_Missense_Mutation_p.Q595R	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	595					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGGAACTGCCTGACCTTTGAA	0.428			"F, N"		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													57	61	60					1																	78414982		2203	4300	6503	SO:0001583	missense	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1784A>G	1.37:g.78414982T>C	ENSP00000359804:p.Gln595Arg		Q12828	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.Q616R	ENST00000370768.2	37	c.1847	CCDS683.1	1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359621	0.41801	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586	T;T;T	0.35605	1.3;1.32;1.34	5.7	5.7	0.88788	Domain of unknown function DUF1897 (1);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.76170	2.325	0.80722	D	1	B;B	0.33000	0.393;0.393	B;B	0.31495	0.131;0.131	T	0.12243	-1.0555	10	0.41790	T	0.15	-12.7087	15.9583	0.79906	0.0:0.0:0.0:1.0	.	616;595	B4DT31;Q96AE4	.;FUBP1_HUMAN	R	595;595;595;580;616	ENSP00000359803:Q595R;ENSP00000359804:Q595R;ENSP00000389536:Q616R	ENSP00000294623:Q594R	Q	-	2	0	FUBP1	78187570	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.948000	0.75965	2.171000	0.68590	0.533000	0.62120	CAG	FUBP1	-	pfam_DUF1897	ENSG00000162613		0.428	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3		0	14	0	T	NM_003902		78414982	-1			no_errors	ENST00000436586	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	C	C	78414982	T	C	78414982	3	2	45	1	0	0	0	0	1	0	0	0	6116	1580	55	4	158	4	FUBP1	1	78414982	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	3460062	78414982	170835639	16	10854											
COL11A1	1301	genome.wustl.edu	37	chr1	103364237	103364237	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacaggaccagggatGccccgaagaccttctggacc	10	5	10	16	1	2	1	1	0	1	1	2	5	2	4	6	3	1	0	6	3	1	1	rs139726483		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:103364237G>T	ENST00000370096.3	-	56	4545	c.4233C>A	c.(4231-4233)ggC>ggA	p.G1411G	COL11A1_ENST00000358392.2_Silent_p.G1423G|COL11A1_ENST00000512756.1_Silent_p.G1295G|COL11A1_ENST00000353414.4_Silent_p.G1372G	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1411	Collagen-like 6.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GACCAGGGATGCCCCGAAGAC	0.463																																																	0													45	48	47					1																	103364237		2203	4300	6503	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4233C>A	1.37:g.103364237G>T			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1423	ENST00000370096.3	37	c.4269	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	25	0	G	NM_080630		103364237	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	silent	16.03	110	21	SNP	1.000	T	T	103364237	G	T	103364237	2	4	45	1	0	0	0	0	0	0	0	1	3674	1306	46	3		3	COL11A1	1	103364237	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	24949255	103364237	145886384	17	10855											
AMY2A	279	genome.wustl.edu	37	chr1	104163266	104163266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgcaaaactcggcacaGttattcgcaagtggaatgga	13	9	12	7	2	0	0	0	0	0	0	2	2	0	2	0	4	2	4	0	4	5	2	rs61814453	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:104163266G>A	ENST00000414303.2	+	5	902	c.838G>A	c.(838-840)Gtt>Att	p.V280I		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	280					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ACTCGGCACAGTTATTCGCAA	0.393													.|||	622	0.124201	0.0514	0.111	5008	,	,		16567	0.1081		0.1551	False		,,,				2504	0.2168																0													18	17	17					1																	104163266		2120	4184	6304	SO:0001583	missense	0			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.838G>A	1.37:g.104163266G>A	ENSP00000397582:p.Val280Ile		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.V280I	ENST00000414303.2	37	c.838	CCDS783.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.52|11.52	1.661728|1.661728	0.29515|0.29515	.|.	.|.	ENSG00000243480|ENSG00000243480	ENST00000423678|ENST00000414303;ENST00000393932	.|D	.|0.98455	.|-4.94	3.13|3.13	3.13|3.13	0.36017|0.36017	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	.|0.201916	.|0.42548	.|D	.|0.000684	D|D	0.95768|0.95768	0.8623|0.8623	M|M	0.67700|0.67700	2.07|2.07	0.20196|0.20196	P|P	0.9999271308|0.9999271308	.|B	.|0.19331	.|0.035	.|B	.|0.23419	.|0.046	D|D	0.96042|0.96042	0.9025|0.9025	4|9	.|0.56958	.|D	.|0.05	.|.	14.3403|14.3403	0.66622|0.66622	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|280	.|P04746	.|AMYP_HUMAN	N|I	201|280	.|ENSP00000397582:V280I	.|ENSP00000377509:V280I	S|V	+|+	2|1	0|0	AMY2A|AMY2A	103964789|103964789	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.977000|0.977000	0.68977|0.68977	4.248000|4.248000	0.58760|0.58760	1.723000|1.723000	0.51488|0.51488	0.305000|0.305000	0.20034|0.20034	AGT|GTT	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000243480		0.393	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	-	0	25	0	G	NM_000699		104163266	1	tier1	rs141685988	no_errors	ENST00000414303	ensembl	human	known	74_37	missense	13.50	312	49	SNP	1.000	A	A	104163266	G	A	104163266	3	1	45	1	0	0	0	0	1	0	0	0	594	1029	36	3	856	3	AMY2A	1	104163266	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	799029	104163266	145087355	18	10856											
AHCYL1	10768	genome.wustl.edu	37	chr1	110527695	110527695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgatgcctgacgcgatGccgctgcccggggtcgggga	5	7	17	12	6	0	1	0	1	0	0	2	4	0	2	3	4	3	1	3	4	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:110527695G>T	ENST00000369799.5	+	1	388	c.21G>T	c.(19-21)atG>atT	p.M7I	AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	7					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CTGACGCGATGCCGCTGCCCG	0.731																																																	0													17	16	16					1																	110527695		2175	4287	6462	SO:0001583	missense	0			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.21G>T	1.37:g.110527695G>T	ENSP00000358814:p.Met7Ile		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.M7I	ENST00000369799.5	37	c.21	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187091	0.38609	.	.	ENSG00000168710	ENST00000369799	T	0.75589	-0.95	4.96	4.96	0.65561	.	0.456213	0.22220	N	0.062965	T	0.47340	0.1440	N	0.22421	0.69	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47522	-0.9111	10	0.35671	T	0.21	-15.6437	13.7147	0.62689	0.0:0.0:1.0:0.0	.	7	O43865	SAHH2_HUMAN	I	7	ENSP00000358814:M7I	ENSP00000358814:M7I	M	+	3	0	AHCYL1	110329218	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.027000	0.57239	2.272000	0.75746	0.655000	0.94253	ATG	AHCYL1	-	NULL	ENSG00000168710		0.731	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1		0	9	0	G			110527695	1			no_errors	ENST00000369799	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	T	T	110527695	G	T	110527695	3	4	45	1	0	0	0	0	1	0	0	0	410	1319	46	3	23	3	AHCYL1	1	110527695	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	6364429	110527695	138722926	19	10857											
WNT2B	7482	genome.wustl.edu	37	chr1	113062921	113062921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttccctaggcactgcaggCcgtgtctgcagcaagacatc	8	8	12	13	1	1	1	0	0	1	1	3	1	2	1	2	3	3	5	2	3	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:113062921C>T	ENST00000369684.4	+	5	1451	c.966C>T	c.(964-966)ggC>ggT	p.G322G	WNT2B_ENST00000256640.5_Silent_p.G230G|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Silent_p.G303G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	322					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACTGCAGGCCGTGTCTGCA	0.527																																																	0													97	76	83					1																	113062921		2203	4300	6503	SO:0001819	synonymous_variant	0			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.966C>T	1.37:g.113062921C>T			O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.G322	ENST00000369684.4	37	c.966	CCDS847.1	1																																																																																			WNT2B	-	pfam_Wnt,smart_Wnt	ENSG00000134245		0.527	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030692.1		0	9	0	C	NM_004185		113062921	1			no_errors	ENST00000369684	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.995	T	T	113062921	C	T	113062921	2	4	45	1	0	0	0	0	0	0	0	1	17436	726	26	3		3	WNT2B	1	113062921	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2535226	113062921	136187700	20	10858											
DENND2C	163259	genome.wustl.edu	37	chr1	115167965	115167965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaatatctgaatgtcctaCgaggttttggcaaaggattt	13	14	9	5	1	1	1	0	1	1	0	2	3	2	2	1	3	1	2	1	3	6	6	rs372971179		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:115167965C>T	ENST00000393274.1	-	4	1266	c.641G>A	c.(640-642)cGt>cAt	p.R214H	DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_Missense_Mutation_p.R214H|DENND2C_ENST00000393277.1_Missense_Mutation_p.R214H	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	214					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R214H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGTCCTACGAGGTTTTGG	0.378																																																	1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	97	97	97		641	5	1	1		97	0,8600		0,0,4300	no	missense	DENND2C	NM_198459.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	214/872	115167965	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.641G>A	1.37:g.115167965C>T	ENSP00000376955:p.Arg214His		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R214H	ENST00000393274.1	37	c.641	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419043	0.83559	2.27E-4	0.0	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.12361	3.15;3.36;2.69	5.0	5.0	0.66597	.	0.069099	0.64402	D	0.000014	T	0.30479	0.0766	M	0.72118	2.19	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.78314	0.971;0.991	T	0.09207	-1.0685	10	0.87932	D	0	.	18.2774	0.90087	0.0:1.0:0.0:0.0	.	214;214	Q68D51;Q68D51-3	DEN2C_HUMAN;.	H	214	ENSP00000376957:R214H;ENSP00000376955:R214H;ENSP00000376958:R214H	ENSP00000358553:R214H	R	-	2	0	DENND2C	114969488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.741000	0.55090	2.333000	0.79357	0.585000	0.79938	CGT	DENND2C	-	NULL	ENSG00000175984		0.378	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0	10	0	C	NM_198459		115167965	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	14.94	74	13	SNP	1.000	T	T	115167965	C	T	115167965	3	4	45	1	0	0	0	0	1	0	0	0	4444	536	19	1	2042	1	DENND2C	1	115167965	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2105044	115167965	134082656	21	10859											
TCHH	7062	genome.wustl.edu	37	chr1	152082656	152082656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctcccactcctggcGccttctcttctcccgttcct	1	14	5	21	2	3	0	0	0	3	0	8	0	5	0	6	1	1	1	6	1	0	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:152082656G>A	ENST00000368804.1	-	2	3036	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1013	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cactcctggcgccttctcttc	0.572																																																	0													98	99	99					1																	152082656		1965	4140	6105	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3037C>T	1.37:g.152082656G>A	ENSP00000357794:p.Arg1013Cys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1013C	ENST00000368804.1	37	c.3037	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	G	4.809	0.150378	0.09185	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	2.58	1.64	0.23874	.	.	.	.	.	T	0.01320	0.0043	L	0.29908	0.895	0.09310	N	1	P	0.35155	0.487	B	0.24541	0.054	T	0.46665	-0.9175	9	0.56958	D	0.05	.	6.5376	0.22363	0.1586:0.0:0.8414:0.0	.	1013	Q07283	TRHY_HUMAN	C	1013	ENSP00000357794:R1013C	ENSP00000357794:R1013C	R	-	1	0	TCHH	150349280	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	0.202000	0.17295	0.264000	0.21851	0.462000	0.41574	CGC	TCHH	-	NULL	ENSG00000159450		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	25	0	G	NM_007113		152082656	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	31.58	64	30	SNP	0.000	A	A	152082656	G	A	152082656	3	1	45	1	0	0	0	0	1	0	0	0	15747	1087	38	1	2798	1	TCHH	1	152082656	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	36914691	152082656	97167965	22	10860											
FLG	2312	genome.wustl.edu	37	chr1	152281390	152281390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctgttcatgggatgacGcagcctgtccacgagaggaa	9	9	13	10	2	1	2	1	1	0	1	2	5	2	4	3	2	2	2	3	2	1	2	rs556604607	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:152281390G>A	ENST00000368799.1	-	3	6007	c.5972C>T	c.(5971-5973)gCg>gTg	p.A1991V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1991	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGATGACGCAGCCTGTCC	0.572									Ichthyosis				-|||	3	0.000599042	0	0.0014	5008	,	,		29259	0.001		0	False		,,,				2504	0.001																0													583	464	504					1																	152281390		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5972C>T	1.37:g.152281390G>A	ENSP00000357789:p.Ala1991Val		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A1991V	ENST00000368799.1	37	c.5972	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	6.936	0.542493	0.13250	.	.	ENSG00000143631	ENST00000368799	T	0.00864	5.6	3.4	-3.76	0.04359	.	.	.	.	.	T	0.00356	0.0011	M	0.68317	2.08	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43475	-0.9389	9	0.27082	T	0.32	.	0.9917	0.01458	0.1861:0.3499:0.1805:0.2835	.	1991	P20930	FILA_HUMAN	V	1991	ENSP00000357789:A1991V	ENSP00000357789:A1991V	A	-	2	0	FLG	150548014	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.760000	0.00100	-0.583000	0.05921	-2.137000	0.00340	GCG	FLG	-	NULL	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	105	0	G	NM_002016		152281390	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	26.89	242	89	SNP	0.000	A	A	152281390	G	A	152281390	3	1	45	1	0	0	0	0	1	0	0	0	5944	1087	38	1	6217	1	FLG	1	152281390	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	198734	152281390	96969231	23	10861											
PKLR	5313	genome.wustl.edu	37	chr1	155261729	155261729	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacagaagctgggctgagCtggaggaggcagagaaggtc	12	4	19	6	0	0	4	0	1	0	3	1	8	0	6	0	5	2	4	0	5	2	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:155261729C>T	ENST00000342741.4	-	10	1475		c.e10-1		PKLR_ENST00000392414.3_Splice_Site	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC						ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTGGGCTGAGCTGGAGGAGGC	0.577																																																	0													37	35	36					1																	155261729		2203	4300	6503	SO:0001630	splice_region_variant	0			BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1437-1G>A	1.37:g.155261729C>T			O75758|P11973	Splice_Site	SNP	-	e10-1	ENST00000342741.4	37	c.1437-1	CCDS1109.1	1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173303	0.57584	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	.	.	.	4.85	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1881	0.48669	0.0:0.9103:0.0:0.0897	.	.	.	.	.	-1	.	.	.	-	.	.	PKLR	153528353	1.000000	0.71417	0.924000	0.36721	0.663000	0.39108	7.462000	0.80851	1.410000	0.46936	-0.251000	0.11542	.	PKLR	-	-	ENSG00000143627		0.577	PKLR-001	KNOWN	basic|CCDS	protein_coding	PKLR	HGNC	protein_coding	OTTHUMT00000087407.2		0	13	0	C	NM_000298	Intron	155261729	-1			no_errors	ENST00000342741	ensembl	human	known	74_37	splice_site	12.90	27	4	SNP	1.000	T	T	155261729	C	T	155261729	5	4	45	1	0	0	0	0	0	0	1	0	12015	811	28	3	296	3	PKLR	1	155261729	Splice_Site	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2980339	155261729	93988892	24	10862											
FCRL3	115352	genome.wustl.edu	37	chr1	157667559	157667559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagactgaattcactGtgatcttctctaaattataa	12	14	6	9	0	3	3	1	2	2	1	4	4	3	3	1	1	0	0	1	1	5	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:157667559G>A	ENST00000368184.3	-	5	740	c.449C>T	c.(448-450)aCa>aTa	p.T150I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.T150I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	150	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGAATTCACTGTGATCTTCTC	0.338																																																	0													181	183	182					1																	157667559		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.449C>T	1.37:g.157667559G>A	ENSP00000357167:p.Thr150Ile		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T150I	ENST00000368184.3	37	c.449	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	3.141	-0.176238	0.06380	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.11495	2.77;2.77	5.3	-10.6	0.00265	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	13.680700	0.00397	N	0.000040	T	0.01592	0.0051	L	0.35723	1.085	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.003	T	0.30387	-0.9980	10	0.21014	T	0.42	.	4.4518	0.11624	0.5651:0.1301:0.0932:0.2117	.	150;150	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	150	ENSP00000357169:T150I;ENSP00000357167:T150I	ENSP00000292392:T150I	T	-	2	0	FCRL3	155934183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.305000	0.00519	-3.131000	0.00236	-2.205000	0.00302	ACA	FCRL3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160856		0.338	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	12	0	G	NM_052939		157667559	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.000	A	A	157667559	G	A	157667559	3	1	45	1	0	0	0	0	1	0	0	0	5818	1377	48	3	1799	3	FCRL3	1	157667559	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2405830	157667559	91583062	25	10863											
SELP	6403	genome.wustl.edu	37	chr1	169581488	169581488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggggctgtccatacccCcgaggctgtgcattgcacca	6	8	13	14	1	0	0	0	0	0	0	1	1	1	0	4	4	3	5	4	4	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:169581488C>T	ENST00000263686.6	-	6	965	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	SELP_ENST00000367792.2_Missense_Mutation_p.G310R|SELP_ENST00000367788.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.G310R|SELP_ENST00000367786.2_Missense_Mutation_p.G310R|SELP_ENST00000367794.2_Missense_Mutation_p.G310R|SELP_ENST00000367793.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.G310R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GTCCATACCCCCGAGGCTGTG	0.488																																																	0													132	107	115					1																	169581488		2203	4300	6503	SO:0001583	missense	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.928G>A	1.37:g.169581488C>T	ENSP00000263686:p.Gly310Arg		Q5R344|Q8IVD1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.G310R	ENST00000263686.6	37	c.928	CCDS1282.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.175924|4.175924	0.78564|0.78564	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.76709	.|0.2;0.2;0.2;0.2;0.2;-1.04	5.39|5.39	4.46|4.46	0.54185|0.54185	.|Complement control module (2);Sushi/SCR/CCP (3);	0.000000|0.000000	0.41294|0.41294	D|D	0.000907|0.000907	D|D	0.86012|0.86012	0.5831|0.5831	M|M	0.87097|0.87097	2.86|2.86	0.53005|0.53005	D|D	0.999966|0.999966	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.97110	.|1.0;0.991;1.0	D|D	0.87764|0.87764	0.2600|0.2600	6|10	.|0.52906	.|T	.|0.07	.|.	13.2938|13.2938	0.60286|0.60286	0.0:0.9216:0.0:0.0784|0.0:0.9216:0.0:0.0784	.|.	.|310;310;310	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	E|R	309|310;310;309;310;310;310;310;310;310;310;295	.|ENSP00000263686:G310R;ENSP00000356768:G310R;ENSP00000356766:G310R;ENSP00000356765:G310R;ENSP00000356760:G310R;ENSP00000399368:G295R	.|ENSP00000263686:G310R	G|G	-|-	2|1	0|0	SELP|SELP	167848112|167848112	0.996000|0.996000	0.38824|0.38824	0.019000|0.019000	0.16419|0.16419	0.928000|0.928000	0.56348|0.56348	4.746000|4.746000	0.62133|0.62133	1.234000|1.234000	0.43709|0.43709	0.650000|0.650000	0.86243|0.86243	GGG|GGG	SELP	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174175		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4	-	0	32	0	C	NM_003005		169581488	-1	tier1	-	no_errors	ENST00000263686	ensembl	human	known	74_37	missense	13.58	70	11	SNP	0.942	T	T	169581488	C	T	169581488	3	4	45	1	0	0	0	0	1	0	0	0	14064	623	22	3	1608	3	SELP	1	169581488	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	11913929	169581488	79669133	26	10864											
CENPL	91687	genome.wustl.edu	37	chr1	173776428	173776428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacaagaaatgcttccgggtCcctttgtgttcctttcattc	7	15	8	11	1	1	1	1	0	0	1	5	2	4	1	3	1	1	2	3	1	2	5	rs144722707	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:173776428C>T	ENST00000345664.6	-	3	610	c.397G>A	c.(397-399)Gac>Aac	p.D133N	CENPL_ENST00000356198.2_Missense_Mutation_p.D133N|Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000367710.3_Missense_Mutation_p.D133N	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	133					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GCTTCCGGGTCCCTTTGTGTT	0.368																																																	0								C	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	61	66	64		397,397,397	5.9	0.7	1	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	CENPL	NM_001127181.2,NM_001171182.1,NM_033319.3	23,23,23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	133/391,133/345,133/345	173776428	2,13004	2203	4300	6503	SO:0001583	missense	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.397G>A	1.37:g.173776428C>T	ENSP00000323543:p.Asp133Asn		Q5TEL5|Q96ND4	Missense_Mutation	SNP	NULL	p.D133N	ENST00000345664.6	37	c.397	CCDS30938.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818431	0.90790	0.0	2.33E-4	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.56776	1.1;0.44;0.44	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.965	T	0.67337	-0.5696	10	0.66056	D	0.02	-4.8904	19.3531	0.94398	0.0:1.0:0.0:0.0	.	133;133	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	N	133	ENSP00000348527:D133N;ENSP00000323543:D133N;ENSP00000356683:D133N	ENSP00000323543:D133N	D	-	1	0	CENPL	172043051	1.000000	0.71417	0.683000	0.30040	0.709000	0.40893	6.438000	0.73426	2.941000	0.99782	0.655000	0.94253	GAC	CENPL	-	NULL	ENSG00000120334		0.368	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	HGNC	protein_coding	OTTHUMT00000084213.1	-	0	17	0	C	NM_033319		173776428	-1	tier1	rs144722707	no_errors	ENST00000356198	ensembl	human	known	74_37	missense	31.09	82	37	SNP	0.997	T	T	173776428	C	T	173776428	3	4	45	1	0	0	0	0	1	0	0	0	3243	855	30	3	791	3	CENPL	1	173776428	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	4194940	173776428	75474193	27	10865											
IPO9	55705	genome.wustl.edu	37	chr1	201837855	201837855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagggcccaatgcaaatGaggctgattcccactctggt	9	10	11	11	0	2	2	1	2	1	0	3	2	3	2	2	3	1	2	2	3	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:201837855G>T	ENST00000361565.4	+	16	2004	c.1935G>T	c.(1933-1935)atG>atT	p.M645I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	645					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAATGCAAATGAGGCTGATTC	0.552																																																	0													110	91	97					1																	201837855		2203	4300	6503	SO:0001583	missense	0			AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"Importins"	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.1935G>T	1.37:g.201837855G>T	ENSP00000354742:p.Met645Ile		B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.M645I	ENST00000361565.4	37	c.1935	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662677	0.67700	.	.	ENSG00000198700	ENST00000361565	T	0.66638	-0.22	6.17	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.033820	0.85682	D	0.000000	T	0.56906	0.2017	L	0.36672	1.1	0.58432	D	0.999999	B	0.22414	0.069	B	0.18263	0.021	T	0.54146	-0.8337	10	0.42905	T	0.14	-2.5914	13.4045	0.60903	0.0752:0.0:0.9248:0.0	.	645	Q96P70	IPO9_HUMAN	I	645	ENSP00000354742:M645I	ENSP00000354742:M645I	M	+	3	0	IPO9	200104478	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.531000	0.81973	1.634000	0.50500	0.655000	0.94253	ATG	IPO9	-	superfamily_ARM-type_fold	ENSG00000198700		0.552	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	HGNC	protein_coding	OTTHUMT00000087088.1		0	12	0	G	NM_018085		201837855	1			no_errors	ENST00000361565	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	201837855	G	T	201837855	3	4	45	1	0	0	0	0	1	0	0	0	7826	1290	45	3	1997	3	IPO9	1	201837855	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	28061427	201837855	47412766	28	10866											
DUSP10	11221	genome.wustl.edu	37	chr1	221875950	221875950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaagtaagcgatgacgAtggtggcggagcgggacacc	11	6	15	9	4	2	1	2	1	0	0	2	5	2	3	1	4	2	1	1	4	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:221875950A>G	ENST00000366899.3	-	4	1491	c.1253T>C	c.(1252-1254)aTc>aCc	p.I418T	DUSP10_ENST00000544095.1_Missense_Mutation_p.I76T|DUSP10_ENST00000323825.3_Missense_Mutation_p.I76T|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	418	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		AGCGATGACGATGGTGGCGGA	0.493																																																	0													125	115	118					1																	221875950		2203	4300	6503	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.1253T>C	1.37:g.221875950A>G	ENSP00000355866:p.Ile418Thr		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.I418T	ENST00000366899.3	37	c.1253	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423182	0.83559	.	.	ENSG00000143507	ENST00000366899;ENST00000418487;ENST00000323825;ENST00000544095	D;D;D	0.87179	-2.22;-2.22;-2.22	5.72	5.72	0.89469	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94345	0.7574	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	418	Q9Y6W6	DUS10_HUMAN	T	418;363;76;76	ENSP00000355866:I418T;ENSP00000322015:I76T;ENSP00000441302:I76T	ENSP00000322015:I76T	I	-	2	0	DUSP10	219942573	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	9.287000	0.95975	2.311000	0.77944	0.533000	0.62120	ATC	DUSP10	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000143507		0.493	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	-	0	14	0	A	NM_007207		221875950	-1	tier1	-	no_errors	ENST00000366899	ensembl	human	known	74_37	missense	16.13	52	10	SNP	1.000	G	G	221875950	A	G	221875950	3	3	45	1	0	0	0	0	1	0	0	0	4824	333	12	4	199	4	DUSP10	1	221875950	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	20038095	221875950	27374671	29	10867											
ENAH	55740	genome.wustl.edu	37	chr1	225707040	225707040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctctcccgatccaggCgttcctgccgctccaggcgt	3	10	10	18	4	1	0	0	0	1	0	5	1	4	0	6	2	2	2	6	2	0	2	rs566336314|rs71170086		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:225707040C>T	ENST00000366844.3	-	5	1113	c.662G>A	c.(661-663)cGc>cAc	p.R221H	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Missense_Mutation_p.R240H|ENAH_ENST00000366843.2_Missense_Mutation_p.R221H	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	221					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CCGATCCAGGcgttcctgccg	0.592																																																	0													102	96	98					1																	225707040		2203	4300	6503	SO:0001583	missense	0			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"mammalian enabled"	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.662G>A	1.37:g.225707040C>T	ENSP00000355809:p.Arg221His		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1	p.R221H	ENST00000366844.3	37	c.662	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568339	0.45798	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.50277	0.75;0.75;0.75	.	.	.	.	1.790380	0.05822	U	0.615864	T	0.45155	0.1328	L	0.47190	1.495	0.19575	N	0.999966	.	.	.	.	.	.	T	0.48811	-0.9002	6	0.72032	D	0.01	.	.	.	.	.	221;221	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	H	221;221;240;220	ENSP00000355809:R221H;ENSP00000355808:R221H;ENSP00000284563:R240H	ENSP00000284563:R240H	R	-	2	0	ENAH	223773663	0.324000	0.24652	0.776000	0.31678	0.708000	0.40852	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	CGC	ENAH	-	NULL	ENSG00000154380		0.592	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	-	0	25	0	C	NM_018212		225707040	-1	tier1	-	no_errors	ENST00000366844	ensembl	human	known	74_37	missense	15.94	57	11	SNP	0.897	T	T	225707040	C	T	225707040	3	4	45	1	0	0	0	0	1	0	0	0	5127	768	27	1	1157	1	ENAH	1	225707040	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	3831090	225707040	23543581	30	10868											
OBSCN	84033	genome.wustl.edu	37	chr1	228547658	228547658	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcccaggagctcatcGgggcatctcttcacactgcc	7	8	12	14	1	3	0	2	0	1	0	5	2	3	1	2	4	3	2	2	4	0	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:228547658G>A	ENST00000422127.1	+	80	18705				OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.S3474S|OBSCN_ENST00000284548.11_Silent_p.S6355S|OBSCN_ENST00000366707.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCTCATCGGGGCATCTCT	0.642																																																	0													20	22	22					1																	228547658		1916	4120	6036	SO:0001627	intron_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18662-2619G>A	1.37:g.228547658G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like_dom,pfscan_DH-domain	p.S3474	ENST00000422127.1	37	c.10422	CCDS58065.1	1																																																																																			OBSCN	-	NULL	ENSG00000154358		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0	18	0	G	NM_052843		228547658	1			no_errors	ENST00000366709	ensembl	human	known	74_37	silent	12.73	47	7	SNP	0.000	A	A	228547658	G	A	228547658	1	1	45	0	1	0	0	0	0	0	0	0	10851	1103	39	1		1	OBSCN	1	228547658	Intron	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2840618	228547658	20702963	31	10869											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232561444	232561444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggcctggtcaagcacGgaactccgggaactgccaaa	11	4	14	12	2	1	0	1	0	0	0	2	2	2	2	3	5	4	2	3	5	4	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:232561444G>A	ENST00000366630.1	-	17	4879	c.4521C>T	c.(4519-4521)tcC>tcT	p.S1507S	SIPA1L2_ENST00000262861.4_Silent_p.S1507S|SIPA1L2_ENST00000308942.4_Silent_p.S581S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1507					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGTCAAGCACGGAACTCCGGG	0.637																																																	0													60	76	70					1																	232561444		2195	4295	6490	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4521C>T	1.37:g.232561444G>A			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.S1507	ENST00000366630.1	37	c.4521	CCDS41474.1	1																																																																																			SIPA1L2	-	pfam_DUF3401	ENSG00000116991		0.637	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0	26	0	G	XM_045839		232561444	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	silent	12.31	57	8	SNP	0.895	A	A	232561444	G	A	232561444	2	1	45	1	0	0	0	0	0	0	0	1	14375	1103	39	1		1	SIPA1L2	1	232561444	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	4013786	232561444	16689177	32	10870											
ACTN2	88	genome.wustl.edu	37	chr1	236908054	236908054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgcgtggagcagatcGcagccatcgcgcaggagctc	9	4	15	13	5	0	1	0	0	0	1	3	4	0	4	2	3	3	4	2	3	0	0	rs376923220		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:236908054G>T	ENST00000366578.4	+	12	1550	c.1384G>T	c.(1384-1386)Gca>Tca	p.A462S	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.A462S|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	462					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAGCAGATCGCAGCCATCGC	0.652																																																	0								G	SER/ALA	0,4406		0,0,2203	60	52	55		1384	5.2	0.2	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTN2	NM_001103.2	99	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	462/895	236908054	1,13005	2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1384G>T	1.37:g.236908054G>T	ENSP00000355537:p.Ala462Ser		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A462S	ENST00000366578.4	37	c.1384	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.688210	0.96784	0.0	1.16E-4	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	T;T	0.50001	0.76;0.76	5.17	5.17	0.71159	.	0.046626	0.85682	N	0.000000	T	0.72661	0.3488	M	0.83953	2.67	0.80722	D	1	D;B;D;P	0.69078	0.994;0.077;0.997;0.863	D;B;D;D	0.91635	0.999;0.384;0.999;0.988	T	0.76168	-0.3058	10	0.59425	D	0.04	.	19.0257	0.92931	0.0:0.0:1.0:0.0	.	247;462;232;462	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	S	462;462;231	ENSP00000443495:A462S;ENSP00000355537:A462S	ENSP00000355537:A462S	A	+	1	0	ACTN2	234974677	1.000000	0.71417	0.237000	0.24090	0.981000	0.71138	9.844000	0.99494	2.546000	0.85860	0.563000	0.77884	GCA	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.652	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0	13	0	G	NM_001103		236908054	1	tier1	-	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	31.25	33	15	SNP	1.000	T	T	236908054	G	T	236908054	3	4	45	1	0	0	0	0	1	0	0	0	205	1087	38	2	1430	2	ACTN2	1	236908054	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	4346610	236908054	12342567	33	10871											
RYR2	6262	genome.wustl.edu	37	chr1	237666695	237666695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaaagaaaagttgaaagtgGaacacagccgagagtacaag	20	4	11	6	1	0	3	0	1	0	2	0	5	0	4	1	1	3	2	1	1	8	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr1:237666695G>A	ENST00000366574.2	+	22	2820	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	RYR2_ENST00000542537.1_Missense_Mutation_p.E819K|RYR2_ENST00000360064.6_Missense_Mutation_p.E833K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	835					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTGAAAGTGGAACACAGCCG	0.502																																																	0													112	114	113					1																	237666695		1987	4149	6136	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2503G>A	1.37:g.237666695G>A	ENSP00000355533:p.Glu835Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E833K	ENST00000366574.2	37	c.2497	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.172527	0.94807	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97041	-4.22;-4.2;-4.21	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000007	D	0.98485	0.9495	M	0.80847	2.515	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.98855	1.0760	10	0.66056	D	0.02	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	835	Q92736	RYR2_HUMAN	K	835;833;819	ENSP00000355533:E835K;ENSP00000353174:E833K;ENSP00000443798:E819K	ENSP00000353174:E833K	E	+	1	0	RYR2	235733318	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.805000	0.99149	2.857000	0.98124	0.650000	0.86243	GAA	RYR2	-	NULL	ENSG00000198626		0.502	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	10	0	G	NM_001035		237666695	1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	A	A	237666695	G	A	237666695	3	1	45	1	0	0	0	0	1	0	0	0	13814	1175	41	3	2589	3	RYR2	1	237666695	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	758641	237666695	11583926	34	10872											
KCNF1	3754	genome.wustl.edu	37	chr2	11052955	11052955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccacctgagcgagaagCgcgaggagctggaggagatc	12	3	17	9	3	0	4	0	1	0	3	1	9	0	6	2	3	4	1	2	3	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:11052955C>T	ENST00000295082.1	+	1	893	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	135					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCGAGAAGCGCGAGGAGCT	0.642																																																	0													45	51	49					2																	11052955		2203	4300	6503	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.403C>T	2.37:g.11052955C>T	ENSP00000295082:p.Arg135Cys		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.R135C	ENST00000295082.1	37	c.403	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	C	16.84	3.232824	0.58777	.	.	ENSG00000162975	ENST00000295082	D	0.94280	-3.39	5.19	4.25	0.50352	BTB/POZ-like (1);BTB/POZ fold (2);	1.168410	0.06265	N	0.694588	D	0.91425	0.7294	M	0.62723	1.935	0.42896	D	0.99421	D	0.56968	0.978	B	0.37508	0.252	D	0.88545	0.3112	10	0.87932	D	0	.	11.5203	0.50546	0.3495:0.6505:0.0:0.0	.	135	Q9H3M0	KCNF1_HUMAN	C	135	ENSP00000295082:R135C	ENSP00000295082:R135C	R	+	1	0	KCNF1	10970406	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.398000	0.52579	2.564000	0.86499	0.563000	0.77884	CGC	KCNF1	-	superfamily_BTB/POZ_fold	ENSG00000162975		0.642	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	-	0	9	0	C	NM_002236		11052955	1	tier1	-	no_errors	ENST00000295082	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T	T	11052955	C	T	11052955	3	4	45	1	0	0	0	0	1	0	0	0	8053	768	27	1	405	1	KCNF1	2	11052955	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09		11052955	232146418	35	10873											
CLIP4	79745	genome.wustl.edu	37	chr2	29386778	29386778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagtattttagctgttCtccaagatatggaatatttg	10	17	9	5	0	1	1	0	0	1	1	2	2	1	2	1	1	2	4	1	1	6	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:29386778C>A	ENST00000320081.5	+	13	1871	c.1616C>A	c.(1615-1617)tCt>tAt	p.S539Y	CLIP4_ENST00000401617.2_Missense_Mutation_p.S432Y|CLIP4_ENST00000404424.1_Missense_Mutation_p.S539Y|CLIP4_ENST00000401605.1_Missense_Mutation_p.S539Y	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	539	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTAGCTGTTCTCCAAGATAT	0.378																																																	0													130	119	123					2																	29386778		2203	4300	6503	SO:0001583	missense	0			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"Ankyrin repeat domain containing"	26108	protein-coding gene	gene with protein product			"restin-like 2"	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1616C>A	2.37:g.29386778C>A	ENSP00000327009:p.Ser539Tyr		A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.S539Y	ENST00000320081.5	37	c.1616	CCDS1770.1	2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705343	0.68615	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	6.06	5.12	0.69794	Cytoskeleton-associated protein, Gly-rich domain (4);	0.256618	0.40064	N	0.001184	D	0.83575	0.5284	M	0.86178	2.8	0.31833	N	0.624444	D	0.54397	0.966	P	0.52267	0.694	D	0.87236	0.2263	10	0.72032	D	0.01	.	17.1253	0.86712	0.1349:0.8651:0.0:0.0	.	539	Q8N3C7	CLIP4_HUMAN	Y	539;432;539;541;539;557;499	ENSP00000384242:S539Y;ENSP00000385148:S432Y;ENSP00000385594:S539Y;ENSP00000327009:S539Y	ENSP00000327009:S539Y	S	+	2	0	CLIP4	29240282	0.992000	0.36948	1.000000	0.80357	0.971000	0.66376	2.369000	0.44231	2.880000	0.98712	0.650000	0.86243	TCT	CLIP4	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	ENSG00000115295		0.378	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP4	HGNC	protein_coding	OTTHUMT00000215123.2		0	14	0	C	NM_024692		29386778	1			no_errors	ENST00000320081	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.998	A	A	29386778	C	A	29386778	3	1	45	1	0	0	0	0	1	0	0	0	3542	913	32	3	1662	3	CLIP4	2	29386778	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	18333823	29386778	213812595	36	10874											
ALK	238	genome.wustl.edu	37	chr2	29754905	29754905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagacggccagtgtgcagtGctcactgctgctcctcatcc	6	9	11	15	2	2	1	2	0	0	1	4	2	4	1	3	1	4	4	3	1	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:29754905G>A	ENST00000389048.3	-	4	1936	c.1030C>T	c.(1030-1032)Cac>Tac	p.H344Y	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	344	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGTGTGCAGTGCTCACTGCTG	0.582			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													131	115	120					2																	29754905		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1030C>T	2.37:g.29754905G>A	ENSP00000373700:p.His344Tyr		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H344Y	ENST00000389048.3	37	c.1030	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778969	0.49891	.	.	ENSG00000171094	ENST00000389048	T	0.02158	4.42	6.08	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	0.80722	D	1	B	0.30236	0.274	B	0.38428	0.273	T	0.64909	-0.6296	8	.	.	.	.	12.9137	0.58195	0.0:0.0:0.8381:0.1619	.	344	Q9UM73	ALK_HUMAN	Y	344	ENSP00000373700:H344Y	.	H	-	1	0	ALK	29608409	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	2.226000	0.42963	1.577000	0.49804	0.655000	0.94253	CAC	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom	ENSG00000171094		0.582	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1		0	8	0	G	NM_004304		29754905	-1			no_errors	ENST00000389048	ensembl	human	known	74_37	missense	20.69	22	6	SNP	1.000	A	A	29754905	G	A	29754905	3	1	45	1	0	0	0	0	1	0	0	0	525	1319	46	3	3936	3	ALK	2	29754905	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	368127	29754905	213444468	37	10875											
OXER1	165140	genome.wustl.edu	37	chr2	42990955	42990955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttggaggtccagggcCgcgtgtggatgcagaagatg	7	8	18	8	3	0	2	0	0	0	2	1	4	1	4	3	4	1	2	3	4	1	1	rs369449798		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:42990955C>T	ENST00000378661.2	-	1	446	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	122					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						GGTCCAGGGCCGCGTGTGGAT	0.617																																																	0								C	GLN/ARG	0,4406		0,0,2203	50	51	51		365	2.7	0.5	2		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	OXER1	NM_148962.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	122/424	42990955	1,13005	2203	4300	6503	SO:0001583	missense	0			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"GPCR / Class A : Leukotriene receptors"	24884	protein-coding gene	gene with protein product	"5-oxo-ETE acid G-protein-coupled receptor 1"					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.365G>A	2.37:g.42990955C>T	ENSP00000367930:p.Arg122Gln		Q86WP7|Q8NGW4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R122Q	ENST00000378661.2	37	c.365	CCDS1810.1	2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823199	0.32237	0.0	1.16E-4	ENSG00000162881	ENST00000378661	T	0.72615	-0.67	3.56	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.095540	0.39407	U	0.001379	T	0.65749	0.2721	L	0.45470	1.425	0.20307	N	0.999917	P	0.50528	0.936	P	0.49140	0.601	T	0.58819	-0.7569	10	0.72032	D	0.01	.	5.7243	0.18004	0.0:0.7534:0.0:0.2466	.	122	Q8TDS5	OXER1_HUMAN	Q	122	ENSP00000367930:R122Q	ENSP00000367930:R122Q	R	-	2	0	OXER1	42844459	0.001000	0.12720	0.506000	0.27664	0.005000	0.04900	0.930000	0.28858	0.706000	0.31912	-0.300000	0.09419	CGG	OXER1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000162881		0.617	OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXER1	HGNC	protein_coding	OTTHUMT00000250514.1		0	12	0	C	NM_148962		42990955	-1			no_errors	ENST00000378661	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.473	T	T	42990955	C	T	42990955	3	4	45	1	0	0	0	0	1	0	0	0	11370	652	23	1	910	1	OXER1	2	42990955	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	13236050	42990955	200208418	38	10876											
ABCG8	64241	genome.wustl.edu	37	chr2	44104795	44104795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttataaaatgcctctcGggaacctcaccatcgcggtc	11	9	8	13	3	2	0	1	0	1	0	5	2	2	1	3	2	3	0	3	2	5	2	rs200005264		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:44104795G>A	ENST00000272286.2	+	12	1942	c.1852G>A	c.(1852-1854)Ggg>Agg	p.G618R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	618	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AATGCCTCTCGGGAACCTCAC	0.517											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													99	102	101					2																	44104795		2203	4300	6503	SO:0001583	missense	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1852G>A	2.37:g.44104795G>A	ENSP00000272286:p.Gly618Arg	921	Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	p.G618R	ENST00000272286.2	37	c.1852	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462835	0.43736	.	.	ENSG00000143921	ENST00000272286	D	0.88896	-2.44	5.08	5.08	0.68730	.	0.225318	0.42420	D	0.000718	D	0.88142	0.6357	M	0.80616	2.505	0.51233	D	0.999917	P;P	0.47841	0.901;0.841	B;B	0.38985	0.287;0.15	D	0.87323	0.2319	10	0.23302	T	0.38	.	15.5909	0.76526	0.0:0.1377:0.8623:0.0	.	617;618	Q9H221-2;Q9H221	.;ABCG8_HUMAN	R	618	ENSP00000272286:G618R	ENSP00000272286:G618R	G	+	1	0	ABCG8	43958299	1.000000	0.71417	0.770000	0.31555	0.005000	0.04900	4.047000	0.57383	2.348000	0.79779	0.591000	0.81541	GGG	ABCG8	-	NULL	ENSG00000143921		0.517	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	-	0	24	0	G	NM_022437		44104795	1	tier1	rs200005264	no_errors	ENST00000272286	ensembl	human	known	74_37	missense	18.18	45	10	SNP	0.787	A	A	44104795	G	A	44104795	3	1	45	1	0	0	0	0	1	0	0	0	72	1116	39	1	1898	1	ABCG8	2	44104795	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1113840	44104795	199094578	39	10877											
BOLA3	388962	genome.wustl.edu	37	chr2	74362706	74362706	+	3'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaagcagcagcatctatgCagccagggcgtggtcagcgt	9	8	13	11	2	2	0	1	0	1	0	2	0	2	0	1	2	6	4	1	2	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:74362706C>A	ENST00000327428.5	-	0	457				BOLA3_ENST00000295326.4_Silent_p.L83L	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3							extracellular region (GO:0005576)				large_intestine(1)|lung(1)	2						AGCATCTATGCAGCCAGGGCG	0.408																																																	0													187	162	170					2																	74362706		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC017744	CCDS33224.1, CCDS33225.1	2p13.1	2013-09-02	2013-09-02		ENSG00000163170	ENSG00000163170			24415	protein-coding gene	gene with protein product		613183	"bolA-like 3 (E. coli)", "bolA homolog 3 (E. coli)"			14718656	Standard	NM_001035505		Approved		uc002skc.1	Q53S33	OTTHUMG00000152834	ENST00000327428.5:c.*14G>T	2.37:g.74362706C>A			G3XAB0	Silent	SNP	NULL	p.L83	ENST00000327428.5	37	c.249	CCDS33225.1	2																																																																																			BOLA3	-	NULL	ENSG00000163170		0.408	BOLA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BOLA3	HGNC	protein_coding	OTTHUMT00000328207.2		0	12	0	C	NM_212552		74362706	-1			no_errors	ENST00000295326	ensembl	human	known	74_37	silent	10.17	53	6	SNP	0.005	A	A	74362706	C	A	74362706	1	1	45	0	1	0	0	0	0	0	0	0	1490	697	25	3		3	BOLA3	2	74362706	3'UTR	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	30257911	74362706	168836667	40	10878											
HTRA2	27429	genome.wustl.edu	37	chr2	74759031	74759031	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgctacattggggtgaTgatgctgaccctgagtccca	7	9	14	11	2	0	4	0	4	0	0	1	4	1	4	2	3	2	2	2	3	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:74759031T>A	ENST00000258080.3	+	6	1724	c.1094T>A	c.(1093-1095)aTg>aAg	p.M365K	HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Missense_Mutation_p.M300K	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	365	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTGGGGTGATGATGCTGACC	0.537																																																	0													74	70	71					2																	74759031		2203	4300	6503	SO:0001583	missense	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.1094T>A	2.37:g.74759031T>A	ENSP00000258080:p.Met365Lys		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.M365K	ENST00000258080.3	37	c.1094	CCDS1951.1	2	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800813	0.50315	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	T;T;T	0.13307	2.6;2.6;2.6	4.87	4.87	0.63330	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.12178	0.0296	N	0.01874	-0.695	0.58432	D	0.999999	D;D;D;D	0.76494	0.987;0.984;0.999;0.987	P;P;D;P	0.80764	0.9;0.839;0.994;0.9	T	0.45264	-0.9273	10	0.13108	T	0.6	-21.9642	12.5215	0.56062	0.0:0.0:0.0:1.0	.	365;375;300;365	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	K	365;300;362	ENSP00000258080:M365K;ENSP00000312893:M300K;ENSP00000399166:M362K	ENSP00000258080:M365K	M	+	2	0	HTRA2	74612539	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.788000	0.69020	2.045000	0.60652	0.456000	0.33151	ATG	HTRA2	-	superfamily_PDZ,smart_PDZ	ENSG00000115317		0.537	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2		0	13	0	T	NM_013247		74759031	1			no_errors	ENST00000258080	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	74759031	T	A	74759031	3	1	45	1	0	0	0	0	1	0	0	0	7481	1464	51	5	1116	5	HTRA2	2	74759031	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	396325	74759031	168440342	41	10879											
UXS1	80146	genome.wustl.edu	37	chr2	106774546	106774546	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgatccttttctgataaaaActttactggtgggtatttct	9	17	7	8	1	2	1	0	1	2	0	3	2	3	1	2	2	2	1	2	2	5	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:106774546A>C	ENST00000409501.3	-	5	301	c.244T>G	c.(244-246)Ttt>Gtt	p.F82V	UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000283148.7_Missense_Mutation_p.F87V|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000540130.1_Missense_Mutation_p.F25V			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	82					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCTGATAAAAACTTTACTGGT	0.299																																																	0													76	68	71					2																	106774546		1773	4041	5814	SO:0001583	missense	0			AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	17729	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 6E, member 12"	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.244T>G	2.37:g.106774546A>C	ENSP00000387019:p.Phe82Val		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase	p.F87V	ENST00000409501.3	37	c.259	CCDS46378.1	2	.	.	.	.	.	.	.	.	.	.	A	17.12	3.309472	0.60414	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.96011	-3.82;-3.78;-3.83;-3.88	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.90304	0.6967	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.004	D	0.86178	0.1604	10	0.38643	T	0.18	-6.8168	14.6535	0.68814	1.0:0.0:0.0:0.0	.	87;82	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	V	87;25;82;25	ENSP00000283148:F87V;ENSP00000438265:F25V;ENSP00000387019:F82V;ENSP00000399316:F25V	ENSP00000283148:F87V	F	-	1	0	UXS1	106140978	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.164000	0.77533	2.279000	0.76181	0.533000	0.62120	TTT	UXS1	-	NULL	ENSG00000115652		0.299	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	UXS1	HGNC	protein_coding	OTTHUMT00000329778.1	-	0	12	0	A	NM_025076.3		106774546	-1	tier1	-	no_errors	ENST00000283148	ensembl	human	known	74_37	missense	20.91	87	23	SNP	1.000	C	C	106774546	A	C	106774546	3	2	45	1	0	0	0	0	1	0	0	0	17158	43	2	4	1062	4	UXS1	2	106774546	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	32015515	106774546	136424827	42	10880											
RANBP2	5903	genome.wustl.edu	37	chr2	109382709	109382709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttggcatttcggaacCaggaaatcaagaaaagaaaa	20	8	8	5	1	1	2	1	0	0	2	2	4	1	4	1	3	1	1	1	3	9	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:109382709C>T	ENST00000283195.6	+	20	5840	c.5714C>T	c.(5713-5715)cCa>cTa	p.P1905L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1905					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTTCGGAACCAGGAAATCAA	0.393																																																	0													99	116	110					2																	109382709		2194	4294	6488	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5714C>T	2.37:g.109382709C>T	ENSP00000283195:p.Pro1905Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.P1905L	ENST00000283195.6	37	c.5714	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	2.795	-0.250352	0.05867	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27104	1.69	5.45	0.633	0.17712	.	.	.	.	.	T	0.19525	0.0469	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26950	-1.0088	9	0.87932	D	0	1.9312	4.8875	0.13710	0.1809:0.5218:0.0:0.2973	.	1905	P49792	RBP2_HUMAN	L	929;1905	ENSP00000283195:P1905L	ENSP00000283195:P1905L	P	+	2	0	RANBP2	108749141	0.014000	0.17966	0.001000	0.08648	0.328000	0.28507	2.717000	0.47227	-0.121000	0.11787	0.557000	0.71058	CCA	RANBP2	-	NULL	ENSG00000153201		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0	49	0	C	NM_006267		109382709	1	tier1	-	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	15.64	328	61	SNP	0.042	T	T	109382709	C	T	109382709	3	4	45	1	0	0	0	0	1	0	0	0	13073	594	21	3	5792	3	RANBP2	2	109382709	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2608163	109382709	133816664	43	10881											
LRP2	4036	genome.wustl.edu	37	chr2	170034503	170034503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgccccatcatacacCgtgtgtcgatggtggccctc	6	9	12	14	2	1	0	1	0	0	0	3	1	1	0	4	3	2	1	4	3	1	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:170034503C>T	ENST00000263816.3	-	53	10488	c.10203G>A	c.(10201-10203)acG>acA	p.T3401T	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3401					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CATCATACACCGTGTGTCGAT	0.438																																																	0													115	100	105					2																	170034503		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10203G>A	2.37:g.170034503C>T			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T3401	ENST00000263816.3	37	c.10203	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	16	0	C	NM_004525		170034503	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.002	T	T	170034503	C	T	170034503	2	4	45	1	0	0	0	0	0	0	0	1	8991	639	23	1		1	LRP2	2	170034503	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	60651794	170034503	73164870	44	10882											
LRP2	4036	genome.wustl.edu	37	chr2	170053496	170053496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgttgaggaatacagcGcccagatgcgcattggaact	12	8	11	10	2	0	2	0	1	0	1	0	4	0	4	2	2	4	2	2	2	4	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:170053496G>A	ENST00000263816.3	-	46	8908	c.8623C>T	c.(8623-8625)Cgc>Tgc	p.R2875C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2875	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R2875S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGAATACAGCGCCCAGATGCG	0.458																																																	1	Substitution - Missense(1)	endometrium(1)											96	85	89					2																	170053496		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8623C>T	2.37:g.170053496G>A	ENSP00000263816:p.Arg2875Cys		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R2875C	ENST00000263816.3	37	c.8623	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287385	0.59976	.	.	ENSG00000081479	ENST00000263816	D	0.96136	-3.92	6.17	4.37	0.52481	.	0.143639	0.64402	D	0.000004	D	0.97247	0.9100	M	0.80982	2.52	0.20975	N	0.999818	D	0.89917	1.0	D	0.70716	0.97	D	0.92734	0.6202	10	0.87932	D	0	.	11.88	0.52568	0.063:0.0:0.8142:0.1228	.	2875	P98164	LRP2_HUMAN	C	2875	ENSP00000263816:R2875C	ENSP00000263816:R2875C	R	-	1	0	LRP2	169761742	0.921000	0.31238	0.045000	0.18777	0.717000	0.41224	3.786000	0.55431	0.926000	0.37118	0.655000	0.94253	CGC	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	15	0	G	NM_004525		170053496	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.011	A	A	170053496	G	A	170053496	3	1	45	1	0	0	0	0	1	0	0	0	8991	1087	38	1	5480	1	LRP2	2	170053496	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	18993	170053496	73145877	45	10883											
LRP2	4036	genome.wustl.edu	37	chr2	170096247	170096247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcttgaacacactcgtGagtacaaccaccattgaaat	13	9	8	11	1	1	3	0	3	1	0	2	3	1	3	2	1	3	2	2	1	4	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:170096247G>T	ENST00000263816.3	-	26	4369	c.4084C>A	c.(4084-4086)Cac>Aac	p.H1362N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1362	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACACACTCGTGAGTACAACCA	0.383																																																	0													76	76	76					2																	170096247		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4084C>A	2.37:g.170096247G>T	ENSP00000263816:p.His1362Asn		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H1362N	ENST00000263816.3	37	c.4084	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449007	0.43531	.	.	ENSG00000081479	ENST00000263816	D	0.90844	-2.74	5.65	5.65	0.86999	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95717	0.8607	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	D	0.94111	0.7371	10	0.29301	T	0.29	.	19.7363	0.96205	0.0:0.0:1.0:0.0	.	1362	P98164	LRP2_HUMAN	N	1362	ENSP00000263816:H1362N	ENSP00000263816:H1362N	H	-	1	0	LRP2	169804493	1.000000	0.71417	0.895000	0.35142	0.785000	0.44390	9.807000	0.99171	2.652000	0.90054	0.650000	0.86243	CAC	LRP2	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000081479		0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	11	0	G	NM_004525		170096247	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	170096247	G	T	170096247	3	4	45	1	0	0	0	0	1	0	0	0	8991	1290	45	3	10099	3	LRP2	2	170096247	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	42751	170096247	73103126	46	10884											
TTN	7273	genome.wustl.edu	37	chr2	179585679	179585679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctgtgctgcagctggcGtcaccaacaccattatgagc	10	8	10	13	2	1	1	1	1	0	0	1	1	1	1	2	1	6	4	2	1	3	1	rs191854953		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:179585679G>A	ENST00000591111.1	-	77	22340	c.22116C>T	c.(22114-22116)gaC>gaT	p.D7372D	TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.D7689D|TTN_ENST00000342992.6_Silent_p.D6445D|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12932	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D6445D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCTGGCGTCACCAACAC	0.433													G|||	1	0.000199681	0	0.0014	5008	,	,		18623	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	prostate(1)						G	,,,	0,4110		0,0,2055	70	71	71		,19335,,	-12.3	0	2		71	1,8415		0,1,4207	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6262	AA,AG,GG		0.0119,0.0,0.0080	,,,	,6445/33424,,	179585679	1,12525	2055	4208	6263	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22116C>T	2.37:g.179585679G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D6445	ENST00000591111.1	37	c.19335		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	8	0	G	NM_133378		179585679	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.120	A	A	179585679	G	A	179585679	2	1	45	1	0	0	0	0	0	0	0	1	16784	1136	40	1		1	TTN	2	179585679	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	9489432	179585679	63613694	47	10885											
ITGAV	3685	genome.wustl.edu	37	chr2	187532501	187532501	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgttcagcacatctatGaggtttgcagttgttagatt	9	16	10	6	0	2	2	1	1	1	1	2	2	2	2	0	1	2	7	0	1	2	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:187532501G>T	ENST00000261023.3	+	24	2705	c.2431G>T	c.(2431-2433)Gag>Tag	p.E811*	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Nonsense_Mutation_p.E775*|ITGAV_ENST00000433736.2_Nonsense_Mutation_p.E765*	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	811					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GCACATCTATGAGGTTTGCAG	0.403																																					Melanoma(58;108 1995 6081)												0													121	120	120					2																	187532501		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2431G>T	2.37:g.187532501G>T	ENSP00000261023:p.Glu811*		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E811*	ENST00000261023.3	37	c.2431	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	G	43	10.123358	0.99342	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4294	0.94758	0.0:0.0:1.0:0.0	.	.	.	.	X	811;775;765	.	ENSP00000261023:E811X	E	+	1	0	ITGAV	187240746	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.197000	0.77814	2.602000	0.87976	0.650000	0.86243	GAG	ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.403	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2		0	23	0	G	NM_002210		187532501	1			no_errors	ENST00000261023	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T	T	187532501	G	T	187532501	4	4	45	1	0	0	0	0	0	1	0	0	7915	1291	45	3	2576	3	ITGAV	2	187532501	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	7946822	187532501	55666872	48	10886											
TRAK2	66008	genome.wustl.edu	37	chr2	202251000	202251000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatccctgttactggcttgGatgttgaaagtttctcttcc	7	16	9	9	0	1	2	0	1	1	1	4	3	3	3	2	2	1	4	2	2	2	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:202251000G>A	ENST00000332624.3	-	14	2332	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	635					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TACTGGCTTGGATGTTGAAAG	0.423																																																	0													94	87	89					2																	202251000		2203	4300	6503	SO:0001583	missense	0			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"gamma-aminobutyric acid(A) receptor-interacting factor", "milton homolog 2 (Drosophila)", "O-linked N-acetylglucosamine transferase interacting protein 98"	607334	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1904C>T	2.37:g.202251000G>A	ENSP00000328875:p.Ser635Phe		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.S635F	ENST00000332624.3	37	c.1904	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	G	7.546	0.661732	0.14645	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.08008	3.14	4.53	3.66	0.41972	.	0.608394	0.12757	U	0.441668	T	0.07908	0.0198	L	0.40543	1.245	0.27754	N	0.94407	B	0.33448	0.412	B	0.31614	0.133	T	0.19031	-1.0318	10	0.49607	T	0.09	.	8.2941	0.31976	0.0833:0.1566:0.7601:0.0	.	635	O60296	TRAK2_HUMAN	F	635;541	ENSP00000328875:S635F	ENSP00000328875:S635F	S	-	2	0	TRAK2	201959245	0.999000	0.42202	0.227000	0.23927	0.172000	0.22775	5.258000	0.65479	1.140000	0.42260	0.655000	0.94253	TCC	TRAK2	-	NULL	ENSG00000115993		0.423	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3		0	9	0	G	NM_015049		202251000	-1			no_errors	ENST00000332624	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.203	A	A	202251000	G	A	202251000	3	1	45	1	0	0	0	0	1	0	0	0	16498	1174	41	3	852	3	TRAK2	2	202251000	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	14718499	202251000	40948373	49	10887											
PARD3B	117583	genome.wustl.edu	37	chr2	206050586	206050586	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgaagattacagccacAggtattgataaaatgatgta	15	10	9	7	1	0	3	0	2	0	1	1	4	0	3	2	1	2	2	2	1	6	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:206050586A>T	ENST00000406610.2	+	14	2230	c.2023A>T	c.(2023-2025)Agc>Tgc	p.S675C	PARD3B_ENST00000349953.3_Splice_Site_p.S675C|PARD3B_ENST00000358768.2_Splice_Site_p.S613C|PARD3B_ENST00000351153.1_Splice_Site_p.S675C|PARD3B_ENST00000462231.1_Splice_Site_p.S675C	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	675					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTACAGCCACAGGTATTGATA	0.423																																																	0													113	101	105					2																	206050586		1917	4135	6052	SO:0001630	splice_region_variant	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2024+1A>T	2.37:g.206050586A>T			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S675C	ENST00000406610.2	37	c.2023		2	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530209	0.64860	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.13420	2.81;2.59;2.8;2.81	6.03	6.03	0.97812	.	0.216162	0.48767	D	0.000169	T	0.34803	0.0910	M	0.61703	1.905	0.45930	D	0.998763	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0	D;D;D;D;D	0.77557	0.989;0.99;0.945;0.965;0.965	T	0.03493	-1.1031	10	0.72032	D	0.01	.	13.9418	0.64059	1.0:0.0:0.0:0.0	.	675;675;675;613;675	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	C	675;613;675;675	ENSP00000385848:S675C;ENSP00000351618:S613C;ENSP00000317261:S675C;ENSP00000340280:S675C	ENSP00000340280:S675C	S	+	1	0	PARD3B	205758831	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	5.222000	0.65277	2.308000	0.77769	0.533000	0.62120	AGC	PARD3B	-	NULL	ENSG00000116117		0.423	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	-	0	11	0	A	NM_057177	Missense_Mutation	206050586	1	tier1	-	no_errors	ENST00000406610	ensembl	human	known	74_37	missense	25.00	54	18	SNP	1.000	T	T	206050586	A	T	206050586	5	4	45	1	0	0	0	0	0	0	1	0	11483	202	7	5	2077	5	PARD3B	2	206050586	Splice_Site	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	3799586	206050586	37148787	50	10888											
ABCA12	26154	genome.wustl.edu	37	chr2	215821415	215821415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagtaggagagatacagCgcctaggttgttttcactgt	11	11	13	6	1	1	2	1	0	0	2	1	5	1	3	1	2	2	3	1	2	4	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:215821415C>T	ENST00000272895.7	-	42	6424	c.6205G>A	c.(6205-6207)Gct>Act	p.A2069T	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.A1751T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2069					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGAGATACAGCGCCTAGGTTG	0.368																																					Ovarian(66;664 1488 5121 34295)												0													106	105	105					2																	215821415		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6205G>A	2.37:g.215821415C>T	ENSP00000272895:p.Ala2069Thr		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A2069T	ENST00000272895.7	37	c.6205	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320595	0.60634	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87809	-2.3;-2.3	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000007	D	0.93795	0.8016	M	0.77406	2.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.94002	0.7276	10	0.87932	D	0	.	19.4063	0.94648	0.0:1.0:0.0:0.0	.	2069;1751	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	2069;1751	ENSP00000272895:A2069T;ENSP00000374312:A1751T	ENSP00000272895:A2069T	A	-	1	0	ABCA12	215529660	1.000000	0.71417	0.963000	0.40424	0.010000	0.07245	5.405000	0.66351	2.690000	0.91761	0.655000	0.94253	GCT	ABCA12	-	NULL	ENSG00000144452		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	21	0	C	NM_173076		215821415	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	T	T	215821415	C	T	215821415	3	4	45	1	0	0	0	0	1	0	0	0	30	768	27	1	1630	1	ABCA12	2	215821415	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	9770829	215821415	27377958	51	10889											
SPEG	10290	genome.wustl.edu	37	chr2	220343878	220343878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtagctgcacagaggaGctgctggagcgaatcgccag	10	6	16	9	2	0	1	0	0	0	1	1	5	0	4	1	3	5	5	1	3	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:220343878G>T	ENST00000312358.7	+	23	5172	c.5040G>T	c.(5038-5040)gaG>gaT	p.E1680D	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1680	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCACAGAGGAGCTGCTGGAGC	0.652																																																	0													61	71	68					2																	220343878		2085	4216	6301	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5040G>T	2.37:g.220343878G>T	ENSP00000311684:p.Glu1680Asp		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E1680D	ENST00000312358.7	37	c.5040	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665810	0.47677	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.36157	1.27	4.42	3.53	0.40419	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40640	N	0.001057	T	0.27629	0.0679	N	0.00894	-1.105	0.80722	D	1	D	0.67145	0.996	D	0.67548	0.952	T	0.51834	-0.8655	10	0.52906	T	0.07	.	12.5885	0.56430	0.0:0.0:0.833:0.1669	.	1680	Q15772	SPEG_HUMAN	D	1680	ENSP00000311684:E1680D	ENSP00000265327:E1680D	E	+	3	2	SPEG	220052122	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.658000	0.61497	1.060000	0.40578	0.561000	0.74099	GAG	SPEG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000072195		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2		0	21	0	G	NM_005876		220343878	1			no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	12.50	35	5	SNP	1.000	T	T	220343878	G	T	220343878	3	4	45	1	0	0	0	0	1	0	0	0	15083	962	34	3	5142	3	SPEG	2	220343878	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	4522463	220343878	22855495	52	10890											
EPHA4	2043	genome.wustl.edu	37	chr2	222290754	222290754	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcagtactggctcagacGggaaccattctgccgtgcat	9	11	10	11	2	3	1	2	0	1	1	3	2	3	2	2	2	4	3	2	2	3	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:222290754G>T	ENST00000281821.2	-	17	2996	c.2955C>A	c.(2953-2955)ccC>ccA	p.P985P	EPHA4_ENST00000392071.4_Silent_p.P934P|EPHA4_ENST00000469354.1_5'Flank|EPHA4_ENST00000409938.1_Silent_p.P985P|EPHA4_ENST00000409854.1_3'UTR	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	985					adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGCTCAGACGGGAACCATTC	0.433																																																	0													228	212	217					2																	222290754		2203	4300	6503	SO:0001819	synonymous_variant	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2955C>A	2.37:g.222290754G>T			A8K2P1|B2R601|B7Z6Q8|Q2M380	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P985	ENST00000281821.2	37	c.2955	CCDS2447.1	2																																																																																			EPHA4	-	NULL	ENSG00000116106		0.433	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0	8	0	G			222290754	-1	tier1	-	no_errors	ENST00000281821	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.889	T	T	222290754	G	T	222290754	2	4	45	1	0	0	0	0	0	0	0	1	5185	1103	39	2		2	EPHA4	2	222290754	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1946876	222290754	20908619	53	10891											
COL6A3	1293	genome.wustl.edu	37	chr2	238263551	238263551	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggctcaccttagctccGgggggtccccttcggccaaa	7	8	12	14	2	1	1	1	1	0	0	4	1	3	1	5	5	1	2	5	5	2	2	rs201814201	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr2:238263551G>A	ENST00000295550.4	-	24	7070	c.6618C>T	c.(6616-6618)ccC>ccT	p.P2206P	COL6A3_ENST00000346358.4_Silent_p.P2006P|COL6A3_ENST00000347401.3_Silent_p.P2005P|COL6A3_ENST00000409809.1_Silent_p.P2000P|COL6A3_ENST00000353578.4_Silent_p.P2000P|COL6A3_ENST00000472056.1_Silent_p.P1599P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2206	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P2206P(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTTAGCTCCGGGGGGTCCCC	0.597													G|||	10	0.00199681	0	0	5008	,	,		16543	0		0.001	False		,,,				2504	0.0092																1	Substitution - coding silent(1)	lung(1)											24	26	25					2																	238263551		2203	4300	6503	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6618C>T	2.37:g.238263551G>A			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P2206	ENST00000295550.4	37	c.6618	CCDS33412.1	2																																																																																			COL6A3	-	NULL	ENSG00000163359		0.597	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0	28	0	G	NM_004369		238263551	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.001	A	A	238263551	G	A	238263551	2	1	45	1	0	0	0	0	0	0	0	1	3708	1103	39	1		1	COL6A3	2	238263551	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	15972797	238263551	4935822	54	10892											
CNTN4	152330	genome.wustl.edu	37	chr3	3095632	3095632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggagatggcagcagcagtGaacaaattcgaattccaaag	16	6	12	7	1	0	2	0	1	0	1	2	5	1	2	1	2	3	3	1	2	4	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:3095632G>C	ENST00000397461.1	+	23	3337	c.2953G>C	c.(2953-2955)Gaa>Caa	p.E985Q	CNTN4_ENST00000418658.1_Missense_Mutation_p.E985Q|CNTN4_ENST00000427331.1_Missense_Mutation_p.E985Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E657Q|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.E657Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E766Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	985	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGCAGCAGTGAACAAATTCG	0.403																																																	0													109	116	114					3																	3095632		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2953G>C	3.37:g.3095632G>C	ENSP00000380602:p.Glu985Gln		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E985Q	ENST00000397461.1	37	c.2953	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058573	0.36277	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.25	2.35	0.29111	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.476125	0.21497	N	0.073591	T	0.53270	0.1786	M	0.78049	2.395	0.36815	D	0.886112	B;B	0.18013	0.025;0.014	B;B	0.28553	0.091;0.017	T	0.59182	-0.7502	10	0.52906	T	0.07	.	16.1031	0.81201	0.0:0.3789:0.6211:0.0	.	984;985	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	Q	985;985;985;766;657;657	ENSP00000396010:E985Q;ENSP00000380602:E985Q;ENSP00000413642:E985Q;ENSP00000351267:E766Q;ENSP00000380600:E657Q;ENSP00000392077:E657Q	ENSP00000351267:E766Q	E	+	1	0	CNTN4	3070632	0.963000	0.33076	0.825000	0.32803	0.986000	0.74619	1.178000	0.31981	0.172000	0.19760	0.655000	0.94253	GAA	CNTN4	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144619		0.403	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2		0	10	0	G			3095632	1			no_errors	ENST00000397461	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.998	C	C	3095632	G	C	3095632	3	2	45	1	0	0	0	0	1	0	0	0	3650	1291	45	5	3035	5	CNTN4	3	3095632	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		3095632	194926798	55	10893											
ATP2B2	491	genome.wustl.edu	37	chr3	10370804	10370804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggaacgccttcacgacGcggatctgcaagggaagcac	11	5	12	13	5	2	0	1	0	1	0	2	4	2	3	1	3	4	2	1	3	4	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:10370804G>A	ENST00000352432.4	-	22	3495	c.3426C>T	c.(3424-3426)cgC>cgT	p.R1142R	ATP2B2_ENST00000360273.2_Silent_p.R1142R|ATP2B2_ENST00000343816.4_Silent_p.R1128R|ATP2B2_ENST00000383800.4_Silent_p.R1097R|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000397077.1_Silent_p.R1097R			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1142	Calmodulin-binding subdomain B. {ECO:0000250}.				auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCTTCACGACGCGGATCTGCA	0.587																																					Ovarian(125;1619 1709 15675 19819 38835)												0													60	63	62					3																	10370804		2203	4300	6503	SO:0001819	synonymous_variant	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3426C>T	3.37:g.10370804G>A			O00766|Q12994|Q16818	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.R1142	ENST00000352432.4	37	c.3426	CCDS33701.1	3																																																																																			ATP2B2	-	pfam_ATP_Ca_trans_C	ENSG00000157087		0.587	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0	18	0	G	NM_001683		10370804	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.998	A	A	10370804	G	A	10370804	2	1	45	1	0	0	0	0	0	0	0	1	1141	1074	38	1		1	ATP2B2	3	10370804	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	7275172	10370804	187651626	56	10894											
PLCD1	5333	genome.wustl.edu	37	chr3	38058149	38058149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcgggcacatcacgggcGaacttctccagaccctccgt	7	8	9	17	4	2	1	1	0	1	1	6	2	4	1	4	2	1	1	4	2	1	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:38058149G>A	ENST00000334661.4	-	3	483	c.261C>T	c.(259-261)ttC>ttT	p.F87F	Y_RNA_ENST00000363709.1_RNA|PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000463876.1_Silent_p.F108F	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATCACGGGCGAACTTCTCCA	0.602																																																	0													73	69	70					3																	38058149		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"EF-hand domain containing"	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.261C>T	3.37:g.38058149G>A			B3KR14|Q86VN8	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F108	ENST00000334661.4	37	c.324	CCDS2671.1	3																																																																																			PLCD1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000187091		0.602	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	-	0	12	0	G			38058149	-1	tier1	-	no_errors	ENST00000463876	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.999	A	A	38058149	G	A	38058149	2	1	45	1	0	0	0	0	0	0	0	1	12070	1049	37	1		1	PLCD1	3	38058149	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	27687345	38058149	159964281	57	10895											
SCN5A	6331	genome.wustl.edu	37	chr3	38603922	38603922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaccctcatgccctcaaatCgtgacagagctctcagagga	11	9	8	13	1	3	3	3	1	1	2	5	4	3	4	2	1	3	1	2	1	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:38603922C>T	ENST00000333535.4	-	22	4096	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q	SCN5A_ENST00000443581.1_Missense_Mutation_p.R1315Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1316Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1262Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1316Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1315Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1316Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1315Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1316					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCCTCAAATCGTGACAGAGC	0.652																																																	0													32	34	33					3																	38603922		2097	4235	6332	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3947G>A	3.37:g.38603922C>T	ENSP00000328968:p.Arg1316Gln		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R1316Q	ENST00000333535.4	37	c.3947	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433137	0.83776	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11;-5.11	4.04	4.04	0.47022	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98957	0.9645	M	0.74389	2.26	0.52099	D	0.999942	D;D;D;D;D;D;P	0.89917	0.989;1.0;1.0;1.0;0.999;1.0;0.942	P;D;D;D;D;D;B	0.83275	0.902;0.996;0.992;0.996;0.936;0.996;0.403	D	0.99737	1.1014	10	0.87932	D	0	.	16.4146	0.83729	0.0:1.0:0.0:0.0	.	1262;1315;1316;1316;1316;1315;1316	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	Q	1316;1315;1316;1262;1315;1316;1316;1315;1262;1262	ENSP00000398962:R1316Q;ENSP00000398266:R1315Q;ENSP00000410257:R1316Q;ENSP00000388797:R1262Q;ENSP00000397915:R1315Q;ENSP00000416634:R1316Q;ENSP00000328968:R1316Q;ENSP00000399524:R1315Q;ENSP00000403355:R1262Q;ENSP00000413996:R1262Q	ENSP00000328968:R1316Q	R	-	2	0	SCN5A	38578926	0.950000	0.32346	0.325000	0.25375	0.836000	0.47400	5.894000	0.69806	2.105000	0.64084	0.655000	0.94253	CGA	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.652	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0	12	0	C	NM_198056		38603922	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.988	T	T	38603922	C	T	38603922	3	4	45	1	0	0	0	0	1	0	0	0	13967	884	31	1	2131	1	SCN5A	3	38603922	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	545773	38603922	159418508	58	10896											
CCDC12	151903	genome.wustl.edu	37	chr3	46965112	46965112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacctcctcgatgacGggctcgggcttggcggcctc	4	8	12	17	4	1	1	1	1	0	0	5	2	2	1	4	4	0	2	4	4	0	1	rs551526667		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:46965112G>A	ENST00000546280.1	-	4	338	c.291C>T	c.(289-291)ccC>ccT	p.P97P	CCDC12_ENST00000292314.2_Silent_p.P110P|CCDC12_ENST00000425441.1_Silent_p.P110P|CCDC12_ENST00000605358.1_5'UTR	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	97				P -> S (in Ref. 1; BAC04857). {ECO:0000305}.						endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		CCTCGATGACGGGCTCGGGCT	0.602											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63	51	55					3																	46965112		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.291C>T	3.37:g.46965112G>A		943	Q8N8I4	Silent	SNP	pfam_mRNA_splic_Cwf18	p.P110	ENST00000546280.1	37	c.330		3																																																																																			CCDC12	-	pfam_mRNA_splic_Cwf18	ENSG00000160799		0.602	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	CCDC12	HGNC	protein_coding		-	0	21	0	G	NM_144716		46965112	-1	tier1	-	no_errors	ENST00000292314	ensembl	human	known	74_37	silent	37.93	18	11	SNP	0.006	A	A	46965112	G	A	46965112	2	1	45	1	0	0	0	0	0	0	0	1	2762	1103	39	1		1	CCDC12	3	46965112	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	8361190	46965112	151057318	59	10897											
LAMB2	3913	genome.wustl.edu	37	chr3	49160628	49160628	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcttgccaagtgcccgCtggttggccatgtgtttgct	5	12	14	10	1	0	1	0	0	0	1	0	2	0	1	3	2	4	5	3	2	1	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:49160628C>T	ENST00000418109.1	-	27	4325	c.4161G>A	c.(4159-4161)caG>caA	p.Q1387Q	LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000488993.1_5'Flank|LAMB2_ENST00000305544.4_Silent_p.Q1387Q|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000398892.3_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1387	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAGTGCCCGCTGGTTGGCCA	0.567																																																	0													181	149	160					3																	49160628		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.4161G>A	3.37:g.49160628C>T			Q16321	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Q1387	ENST00000418109.1	37	c.4161	CCDS2789.1	3																																																																																			LAMB2	-	NULL	ENSG00000172037		0.567	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1		0	26	0	C	NM_002292		49160628	-1			no_errors	ENST00000305544	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	49160628	C	T	49160628	2	4	45	1	0	0	0	0	0	0	0	1	8639	796	28	3		3	LAMB2	3	49160628	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2195516	49160628	148861802	60	10898											
TRAIP	10293	genome.wustl.edu	37	chr3	49869368	49869368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacttctctaggcaaaGtttttcgtagtaaccatgct	9	15	8	9	1	1	1	0	1	1	0	3	1	1	1	1	1	2	5	1	1	4	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:49869368G>T	ENST00000331456.2	-	11	1131	c.1018C>A	c.(1018-1020)Ctt>Att	p.L340I	TRAIP_ENST00000469027.1_Missense_Mutation_p.L185I	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	340	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTAGGCAAAGTTTTTCGTAG	0.542																																																	0													114	115	115					3																	49869368		2203	4300	6503	SO:0001583	missense	0			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1018C>A	3.37:g.49869368G>T	ENSP00000328203:p.Leu340Ile		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.L340I	ENST00000331456.2	37	c.1018	CCDS2806.1	3	.	.	.	.	.	.	.	.	.	.	G	7.779	0.709187	0.15239	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.50813	0.73	5.83	3.94	0.45596	.	0.370667	0.29165	N	0.012947	T	0.30978	0.0782	L	0.34521	1.04	0.21553	N	0.999645	B;B	0.13594	0.008;0.004	B;B	0.09377	0.003;0.004	T	0.14699	-1.0463	10	0.13108	T	0.6	-27.0783	7.9669	0.30104	0.0768:0.0:0.6739:0.2493	.	340;340	A8K807;Q9BWF2	.;TRAIP_HUMAN	I	340;185	ENSP00000420085:L185I	ENSP00000328203:L340I	L	-	1	0	TRAIP	49844372	0.900000	0.30661	0.758000	0.31321	0.042000	0.13812	1.547000	0.36190	1.479000	0.48272	0.655000	0.94253	CTT	TRAIP	-	NULL	ENSG00000183763		0.542	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1		0	17	0	G	NM_005879		49869368	-1			no_errors	ENST00000331456	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.686	T	T	49869368	G	T	49869368	3	4	45	1	0	0	0	0	1	0	0	0	16496	1029	36	3	411	3	TRAIP	3	49869368	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	708740	49869368	148153062	61	10899											
RAD54L2	23132	genome.wustl.edu	37	chr3	51664825	51664825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaagggtggcacccatGtcaatgatgtcttaaaccag	14	8	11	8	0	2	2	1	1	1	1	2	3	2	2	2	2	1	1	2	2	5	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:51664825G>A	ENST00000409535.2	+	6	828	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	235						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TGGCACCCATGTCAATGATGT	0.522																																																	0													122	103	109					3																	51664825		2203	4300	6503	SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.703G>A	3.37:g.51664825G>A	ENSP00000386520:p.Val235Ile		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V235I	ENST00000409535.2	37	c.703	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.065536|2.065536	0.36470|0.36470	.|.	.|.	ENSG00000164080|ENSG00000164080	ENST00000432863|ENST00000409535	.|T	.|0.44881	.|0.91	5.8|5.8	4.94|4.94	0.65067|0.65067	.|.	.|0.306355	.|0.35466	.|N	.|0.003197	T|T	0.31009|0.31009	0.0783|0.0783	L|L	0.33245|0.33245	0.995|0.995	0.80722|0.80722	D|D	1|1	.|B	.|0.23540	.|0.087	.|B	.|0.20955	.|0.032	T|T	0.07597|0.07597	-1.0764|-1.0764	5|10	.|0.13470	.|T	.|0.59	-12.8418|-12.8418	13.8276|13.8276	0.63359|0.63359	0.0728:0.0:0.9272:0.0|0.0728:0.0:0.9272:0.0	.|.	.|235	.|Q9Y4B4	.|ARIP4_HUMAN	Y|I	63|235	.|ENSP00000386520:V235I	.|ENSP00000386520:V235I	C|V	+|+	2|1	0|0	RAD54L2|RAD54L2	51639865|51639865	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.929000|0.929000	0.56500|0.56500	3.870000|3.870000	0.56070|0.56070	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	TGT|GTC	RAD54L2	-	superfamily_P-loop_NTPase	ENSG00000164080		0.522	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0	12	0	G	NM_015106		51664825	1	tier1	-	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	A	A	51664825	G	A	51664825	3	1	45	1	0	0	0	0	1	0	0	0	13039	1377	48	3	721	3	RAD54L2	3	51664825	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1795457	51664825	146357605	62	10900											
BAP1	8314	genome.wustl.edu	37	chr3	52439267	52439267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtttgttgggagggctgtgGgatggggcttgtgcgcatga	4	12	21	4	1	0	1	0	1	0	0	0	3	0	3	0	6	1	5	0	6	0	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:52439267G>A	ENST00000460680.1	-	11	1446	c.975C>T	c.(973-975)tcC>tcT	p.S325S	BAP1_ENST00000296288.5_Silent_p.S307S	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A323fs*71(1)|p.P324fs*7(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GAGGGCTGTGGGATGGGGCTT	0.602			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Deletion - Frameshift(2)	eye(1)|pleura(1)											116	121	119					3																	52439267		2203	4300	6503	SO:0001819	synonymous_variant	0			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.975C>T	3.37:g.52439267G>A			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.S325	ENST00000460680.1	37	c.975	CCDS2853.1	3																																																																																			BAP1	-	NULL	ENSG00000163930		0.602	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	-	0	13	0	G			52439267	-1	tier1	-	no_errors	ENST00000460680	ensembl	human	known	74_37	silent	18.60	35	8	SNP	0.839	A	A	52439267	G	A	52439267	2	1	45	1	0	0	0	0	0	0	0	1	1312	1219	43	3		3	BAP1	3	52439267	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	774442	52439267	145583163	63	10901											
FLNB	2317	genome.wustl.edu	37	chr3	58109286	58109286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacctacgtgcccctgaCggccggcatgtacacgttga	7	8	13	13	4	0	3	0	3	0	0	0	3	0	3	4	3	3	3	4	3	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:58109286C>T	ENST00000295956.4	+	21	3758	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M	FLNB_ENST00000429972.2_Missense_Mutation_p.T1198M|FLNB_ENST00000493452.1_Missense_Mutation_p.T1029M|FLNB_ENST00000348383.5_Missense_Mutation_p.T1198M|FLNB_ENST00000490882.1_Missense_Mutation_p.T1198M|FLNB_ENST00000419752.2_Missense_Mutation_p.T1029M|FLNB_ENST00000358537.3_Missense_Mutation_p.T1198M|FLNB_ENST00000357272.4_Missense_Mutation_p.T1198M	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1198	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGCCCCTGACGGCCGGCATG	0.607																																																	0													51	48	49					3																	58109286		2198	4298	6496	SO:0001583	missense	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3593C>T	3.37:g.58109286C>T	ENSP00000295956:p.Thr1198Met		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.T1198M	ENST00000295956.4	37	c.3593	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	10.75	1.436937	0.25900	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.89	5.89	0.94794	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.380247	0.31897	N	0.006899	T	0.76695	0.4023	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B;B	0.31040	0.056;0.232;0.059;0.006;0.305;0.305	B;B;B;B;B;B	0.23275	0.017;0.028;0.037;0.014;0.045;0.045	T	0.67373	-0.5687	10	0.34782	T	0.22	.	13.457	0.61204	0.0:0.9288:0.0:0.0712	.	1198;1198;1029;1029;1198;1198	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	M	1198;1198;1198;1198;1198;1198;1029;1029	ENSP00000295956:T1198M;ENSP00000420213:T1198M;ENSP00000351339:T1198M;ENSP00000415599:T1198M;ENSP00000232447:T1198M;ENSP00000349819:T1198M;ENSP00000418510:T1029M;ENSP00000414532:T1029M	ENSP00000295956:T1198M	T	+	2	0	FLNB	58084326	0.004000	0.15560	0.952000	0.39060	0.780000	0.44128	0.814000	0.27239	2.793000	0.96121	0.655000	0.94253	ACG	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.607	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	-	0	17	0	C	NM_001457		58109286	1	tier1	-	no_errors	ENST00000295956	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.047	T	T	58109286	C	T	58109286	3	4	45	1	0	0	0	0	1	0	0	0	5956	536	19	1	3675	1	FLNB	3	58109286	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	5670019	58109286	139913144	64	10902											
DNASE1L3	1776	genome.wustl.edu	37	chr3	58194005	58194005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtccttgatttccatcAcgagtatgatgtcacagcgt	8	14	9	10	2	2	2	2	2	0	0	4	3	4	2	2	0	2	2	2	0	1	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:58194005A>G	ENST00000394549.2	-	2	486	c.170T>C	c.(169-171)gTg>gCg	p.V57A	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.V57A|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V57A|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V57A	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	57					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GATTTCCATCACGAGTATGAT	0.463																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)												0													231	191	204					3																	58194005		2203	4300	6503	SO:0001583	missense	0			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.170T>C	3.37:g.58194005A>G	ENSP00000378053:p.Val57Ala		B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.V57A	ENST00000394549.2	37	c.170	CCDS2886.1	3	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330525	0.41297	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914;ENST00000460422	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.59	5.59	0.84812	Endonuclease/exonuclease/phosphatase (2);	0.113525	0.38837	N	0.001542	T	0.43344	0.1243	M	0.62723	1.935	0.23010	N	0.998433	B;P;B	0.35124	0.425;0.485;0.336	B;B;B	0.40741	0.131;0.339;0.173	T	0.47911	-0.9080	10	0.72032	D	0.01	.	14.0043	0.64453	1.0:0.0:0.0:0.0	.	57;57;57	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	A	57	ENSP00000419052:V57A;ENSP00000316193:V57A;ENSP00000417047:V57A;ENSP00000378053:V57A;ENSP00000418113:V57A;ENSP00000418509:V57A	ENSP00000316193:V57A	V	-	2	0	DNASE1L3	58169045	1.000000	0.71417	0.928000	0.36995	0.185000	0.23345	7.083000	0.76859	2.120000	0.65058	0.459000	0.35465	GTG	DNASE1L3	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	ENSG00000163687		0.463	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	HGNC	protein_coding	OTTHUMT00000353533.1		0	16	0	A	NM_004944		58194005	-1			no_errors	ENST00000318316	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.997	G	G	58194005	A	G	58194005	3	3	45	1	0	0	0	0	1	0	0	0	4677	159	6	4	775	4	DNASE1L3	3	58194005	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	84719	58194005	139828425	65	10903											
PTPRG	5793	genome.wustl.edu	37	chr3	62189529	62189529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagaggagcagtatgcagGgagtgatcccaagaggcccg	12	4	15	10	1	0	3	0	1	0	2	1	5	1	5	2	3	2	3	2	3	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:62189529G>A	ENST00000474889.1	+	12	2437	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	PTPRG_ENST00000295874.10_Missense_Mutation_p.G687E	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	687					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGTATGCAGGGAGTGATCCC	0.587																																																	0													39	49	46					3																	62189529		2203	4300	6503	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2060G>A	3.37:g.62189529G>A	ENSP00000418112:p.Gly687Glu		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.G687E	ENST00000474889.1	37	c.2060	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	3.405	-0.121352	0.06838	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.48201	0.82;0.82	5.03	1.1	0.20463	.	0.860866	0.10187	N	0.705167	T	0.25269	0.0614	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.29212	-1.0019	10	0.02654	T	1	.	4.9439	0.13980	0.3406:0.1436:0.5158:0.0	.	687;687	P23470-2;P23470	.;PTPRG_HUMAN	E	687	ENSP00000418112:G687E;ENSP00000295874:G687E	ENSP00000295874:G687E	G	+	2	0	PTPRG	62164569	0.224000	0.23674	0.000000	0.03702	0.098000	0.18820	0.231000	0.17872	-0.089000	0.12484	-0.165000	0.13383	GGG	PTPRG	-	NULL	ENSG00000144724		0.587	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1		0	19	0	G	NM_002841		62189529	1			no_errors	ENST00000474889	ensembl	human	known	74_37	missense	15.22	39	7	SNP	0.001	A	A	62189529	G	A	62189529	3	1	45	1	0	0	0	0	1	0	0	0	12847	1232	43	3	2106	3	PTPRG	3	62189529	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3995524	62189529	135832901	66	10904											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64672417	64672417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgataaatccggcattggCggtgagattaaatagaaact	15	9	11	6	3	0	2	0	1	0	2	1	4	1	2	1	3	2	1	1	3	6	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:64672417C>T	ENST00000498707.1	-	2	685	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.A115T|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.A115T|ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	115					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A115T(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CCGGCATTGGCGGTGAGATTA	0.572																																																	1	Substitution - Missense(1)	central_nervous_system(1)											50	51	51					3																	64672417		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.343G>A	3.37:g.64672417C>T	ENSP00000418735:p.Ala115Thr		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A115T	ENST00000498707.1	37	c.343	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847865	0.71603	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.06294	3.32;3.32;3.32	5.02	5.02	0.67125	Peptidase M12B, propeptide (1);	0.183913	0.37577	N	0.002035	T	0.20414	0.0491	L	0.50333	1.59	0.47153	D	0.99933	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76071	0.987;0.961;0.979	T	0.00763	-1.1576	10	0.32370	T	0.25	.	18.7173	0.91680	0.0:1.0:0.0:0.0	.	115;115;115	B7ZVX9;Q9P2N4-2;Q9P2N4	.;.;ATS9_HUMAN	T	115	ENSP00000295903:A115T;ENSP00000418735:A115T;ENSP00000419217:A115T	ENSP00000295903:A115T	A	-	1	0	ADAMTS9	64647457	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.790000	0.55461	2.514000	0.84764	0.491000	0.48974	GCC	ADAMTS9	-	pfam_Peptidase_M12B_N	ENSG00000163638		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1		0	14	0	C			64672417	-1			no_errors	ENST00000498707	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	64672417	C	T	64672417	3	4	45	1	0	0	0	0	1	0	0	0	273	768	27	1	5616	1	ADAMTS9	3	64672417	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2482888	64672417	133350013	67	10905											
IMPG2	50939	genome.wustl.edu	37	chr3	100949844	100949844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcatggtgtgcttggaGagtcctgatgaagaagtaga	10	11	14	6	0	1	5	1	2	0	3	2	6	2	5	2	2	1	2	2	2	3	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:100949844G>T	ENST00000193391.7	-	16	3566	c.3379C>A	c.(3379-3381)Ctc>Atc	p.L1127I		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1127	Hyaluronan-binding motif involved in chondroitin sulfate A- and C-binding. {ECO:0000250}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGTGCTTGGAGAGTCCTGATG	0.418																																																	0													159	153	155					3																	100949844		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3379C>A	3.37:g.100949844G>T	ENSP00000193391:p.Leu1127Ile		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.L1127I	ENST00000193391.7	37	c.3379	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	G	9.499	1.102822	0.20632	.	.	ENSG00000081148	ENST00000193391	T	0.29397	1.57	5.92	0.878	0.19150	.	0.474047	0.21106	N	0.080071	T	0.30696	0.0773	M	0.71581	2.175	0.27329	N	0.956834	P;P	0.38420	0.63;0.63	B;B	0.36186	0.219;0.219	T	0.16276	-1.0408	10	0.62326	D	0.03	-1.2937	10.6567	0.45680	0.3158:0.0:0.6842:0.0	.	1127;1127	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	I	1127	ENSP00000193391:L1127I	ENSP00000193391:L1127I	L	-	1	0	IMPG2	102432534	0.997000	0.39634	0.004000	0.12327	0.003000	0.03518	2.117000	0.41939	-0.119000	0.11830	-0.302000	0.09304	CTC	IMPG2	-	NULL	ENSG00000081148		0.418	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3		0	14	0	G			100949844	-1			no_errors	ENST00000193391	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.457	T	T	100949844	G	T	100949844	3	4	45	1	0	0	0	0	1	0	0	0	7756	942	33	3	362	3	IMPG2	3	100949844	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	36277427	100949844	97072586	68	10906											
DPPA2	151871	genome.wustl.edu	37	chr3	109028057	109028057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttgttgacaccagtccCgcaaagtgtcccgacacacc	10	7	9	15	3	0	1	0	1	0	0	2	3	2	1	4	0	0	3	4	0	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:109028057C>T	ENST00000478945.1	-	4	548	c.302G>A	c.(301-303)cGg>cAg	p.R101Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	101	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.R101L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACACCAGTCCCGCAAAGTGTC	0.453																																																	1	Substitution - Missense(1)	lung(1)											195	200	198					3																	109028057		2203	4300	6503	SO:0001583	missense	0			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"cancer/testis antigen 100"	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.302G>A	3.37:g.109028057C>T	ENSP00000417710:p.Arg101Gln		Q8WVF0	Missense_Mutation	SNP	pfscan_SAP_dom	p.R101Q	ENST00000478945.1	37	c.302	CCDS2956.1	3	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606016	0.46527	.	.	ENSG00000163530	ENST00000478945	T	0.60299	0.2	4.48	3.6	0.41247	DNA-binding SAP (2);	0.138820	0.33161	N	0.005214	T	0.68522	0.3010	M	0.64170	1.965	0.26220	N	0.979166	D	0.89917	1.0	D	0.87578	0.998	T	0.58183	-0.7681	10	0.87932	D	0	-12.9163	7.6849	0.28534	0.0:0.8885:0.0:0.1115	.	101	Q7Z7J5	DPPA2_HUMAN	Q	101	ENSP00000417710:R101Q	ENSP00000417710:R101Q	R	-	2	0	DPPA2	110510747	0.128000	0.22383	0.899000	0.35326	0.022000	0.10575	0.531000	0.23052	2.489000	0.83994	0.561000	0.74099	CGG	DPPA2	-	pfscan_SAP_dom	ENSG00000163530		0.453	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA2	HGNC	protein_coding	OTTHUMT00000353938.1		0	18	0	C	NM_138815		109028057	-1			no_errors	ENST00000478945	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.818	T	T	109028057	C	T	109028057	3	4	45	1	0	0	0	0	1	0	0	0	4748	652	23	1	614	1	DPPA2	3	109028057	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	8078213	109028057	88994373	69	10907											
TMEM39A	55254	genome.wustl.edu	37	chr3	119155655	119155655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatgtgctgtggagcattGctgtaggacccatgttccaa	9	11	11	10	0	0	0	0	0	0	0	1	2	1	2	2	2	3	5	2	2	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:119155655G>T	ENST00000319172.5	-	7	1515	c.1095C>A	c.(1093-1095)agC>agA	p.S365R	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	365						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GTGGAGCATTGCTGTAGGACC	0.438																																																	0													304	288	293					3																	119155655		2203	4300	6503	SO:0001583	missense	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.1095C>A	3.37:g.119155655G>T	ENSP00000326063:p.Ser365Arg		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.S365R	ENST00000319172.5	37	c.1095	CCDS2987.1	3	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845690	0.32606	.	.	ENSG00000176142	ENST00000319172	T	0.49432	0.78	5.31	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.61218	1.895	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.57142	-0.7862	10	0.44086	T	0.13	-12.5617	9.8501	0.41051	0.2215:0.0:0.7785:0.0	.	365	Q9NV64	TM39A_HUMAN	R	365	ENSP00000326063:S365R	ENSP00000326063:S365R	S	-	3	2	TMEM39A	120638345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.895000	0.48648	0.388000	0.25054	-0.143000	0.13931	AGC	TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.438	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3		0	15	0	G	NM_018266		119155655	-1			no_errors	ENST00000319172	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	119155655	G	T	119155655	3	4	45	1	0	0	0	0	1	0	0	0	16208	1310	46	3	383	3	TMEM39A	3	119155655	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	10127598	119155655	78866775	70	10908											
GRK7	131890	genome.wustl.edu	37	chr3	141499486	141499486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacatgagccgggtgatcTtttactcggcccagatagcc	8	10	12	11	2	1	3	0	2	1	1	2	4	1	4	3	3	3	0	3	3	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:141499486T>C	ENST00000264952.2	+	2	1020	c.883T>C	c.(883-885)Ttt>Ctt	p.F295L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCGGGTGATCTTTTACTCGGC	0.562																																																	0													99	91	94					3																	141499486		2203	4300	6503	SO:0001583	missense	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.883T>C	3.37:g.141499486T>C	ENSP00000264952:p.Phe295Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.F295L	ENST00000264952.2	37	c.883	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688147	0.68271	.	.	ENSG00000114124	ENST00000264952	T	0.64991	-0.13	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.172850	0.52532	D	0.000071	T	0.57095	0.2030	L	0.41906	1.305	0.34697	D	0.726337	P	0.40534	0.72	B	0.40636	0.335	T	0.72191	-0.4365	10	0.72032	D	0.01	-14.8291	14.8761	0.70496	0.0:0.0:0.0:1.0	.	295	Q8WTQ7	GRK7_HUMAN	L	295	ENSP00000264952:F295L	ENSP00000264952:F295L	F	+	1	0	GRK7	142982176	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	3.235000	0.51328	1.909000	0.55274	0.533000	0.62120	TTT	GRK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000114124		0.562	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1		0	13	0	T	NM_139209		141499486	1			no_errors	ENST00000264952	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	C	C	141499486	T	C	141499486	3	2	45	1	0	0	0	0	1	0	0	0	6821	1609	56	4	889	4	GRK7	3	141499486	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	22343831	141499486	56522944	71	10909											
GK5	256356	genome.wustl.edu	37	chr3	141944229	141944229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagaactgcccacatccagCcccagcacgaagccggggta	12	3	10	16	2	0	1	0	0	0	1	1	2	1	1	5	2	5	2	5	2	3	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:141944229C>T	ENST00000392993.2	-	1	220	c.69G>A	c.(67-69)ggG>ggA	p.G23G	GK5_ENST00000466685.3_5'UTR|GK5_ENST00000544571.1_Silent_p.G23G	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	23					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CCACATCCAGCCCCAGCACGA	0.711																																																	0													18	18	18					3																	141944229		2184	4285	6469	SO:0001819	synonymous_variant	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.69G>A	3.37:g.141944229C>T			B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Silent	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.G23	ENST00000392993.2	37	c.69	CCDS33871.1	3																																																																																			GK5	-	pfam_Carb_kinase_FGGY_N	ENSG00000175066		0.711	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1		0	8	0	C	NM_001039547		141944229	-1			no_errors	ENST00000392993	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T	T	141944229	C	T	141944229	2	4	45	1	0	0	0	0	0	0	0	1	6448	726	26	3		3	GK5	3	141944229	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	444743	141944229	56078201	72	10910											
ZDHHC19	131540	genome.wustl.edu	37	chr3	195936290	195936290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggtaagtccggggcGggcggtggaagcagcacttt	7	7	19	8	3	0	0	0	0	0	0	1	1	1	1	1	7	2	4	1	7	2	2	rs200834357	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr3:195936290G>A	ENST00000296326.3	-	3	444	c.365C>T	c.(364-366)cCg>cTg	p.P122L	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	122						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		AGTCCGGGGCGGGCGGTGGAA	0.657													G|||	8	0.00159744	0.0061	0	5008	,	,		6926	0		0	False		,,,				2504	0																0								G	LEU/PRO	7,4129		0,7,2061	40	52	48		365	5.8	1	3		48	0,8396		0,0,4198	yes	missense	ZDHHC19	NM_001039617.1	98	0,7,6259	AA,AG,GG		0.0,0.1692,0.0559	probably-damaging	122/310	195936290	7,12525	2068	4198	6266	SO:0001583	missense	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.365C>T	3.37:g.195936290G>A	ENSP00000296326:p.Pro122Leu		A8MSY6|B3KVI1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P122L	ENST00000296326.3	37	c.365	CCDS43190.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878327	0.91740	0.001692	0.0	ENSG00000163958	ENST00000296326	T	0.32753	1.44	5.81	5.81	0.92471	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.121784	0.37761	N	0.001947	T	0.59335	0.2186	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.64462	-0.6402	10	0.87932	D	0	-17.4579	15.5735	0.76356	0.0:0.0:1.0:0.0	.	122	Q8WVZ1	ZDH19_HUMAN	L	122	ENSP00000296326:P122L	ENSP00000296326:P122L	P	-	2	0	ZDHHC19	197420687	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	4.380000	0.59581	2.751000	0.94390	0.555000	0.69702	CCG	ZDHHC19	-	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	ENSG00000163958		0.657	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	-	0	44	0	G	NM_144637		195936290	-1	tier1	rs200834357	no_errors	ENST00000296326	ensembl	human	known	74_37	missense	22.77	77	23	SNP	0.997	A	A	195936290	G	A	195936290	3	1	45	1	0	0	0	0	1	0	0	0	17657	1116	39	1	584	1	ZDHHC19	3	195936290	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	53992061	195936290	2086140	73	10911											
ZBTB49	166793	genome.wustl.edu	37	chr4	4303750	4303750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcttcaagccagaagaatGatgtttttcacttggatgtt	11	16	8	6	0	3	3	2	1	1	2	3	4	3	4	1	1	1	2	1	1	3	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:4303750G>A	ENST00000337872.4	+	3	308	c.187G>A	c.(187-189)Gat>Aat	p.D63N	ZBTB49_ENST00000538529.1_De_novo_Start_OutOfFrame|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D63N	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	63	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CCAGAAGAATGATGTTTTTCA	0.358																																																	0													82	79	80					4																	4303750		2203	4300	6503	SO:0001583	missense	0			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19883	protein-coding gene	gene with protein product			"zinc finger protein 509"	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.187G>A	4.37:g.4303750G>A	ENSP00000338807:p.Asp63Asn		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D63N	ENST00000337872.4	37	c.187	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.267207	0.95399	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000502918	T;T;T	0.66460	-0.21;-0.21;-0.21	5.38	5.38	0.77491	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000014	T	0.79375	0.4435	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80238	-0.1465	10	0.72032	D	0.01	.	19.4888	0.95042	0.0:0.0:1.0:0.0	.	63	Q6ZSB9	ZBT49_HUMAN	N	63	ENSP00000348091:D63N;ENSP00000338807:D63N;ENSP00000425747:D63N	ENSP00000338807:D63N	D	+	1	0	ZBTB49	4354651	1.000000	0.71417	0.921000	0.36526	0.794000	0.44872	9.574000	0.98184	2.698000	0.92095	0.585000	0.79938	GAT	ZBTB49	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000168826		0.358	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	-	0	12	0	G	NM_145291		4303750	1	tier1	-	no_errors	ENST00000337872	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	A	A	4303750	G	A	4303750	3	1	45	1	0	0	0	0	1	0	0	0	17598	1290	45	3	193	3	ZBTB49	4	4303750	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		4303750	186850526	74	10912											
SLIT2	9353	genome.wustl.edu	37	chr4	20618585	20618585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccaggcccctgggcagaaCggaaccagcttccacggctg	8	4	13	16	3	0	1	0	0	0	1	1	2	1	2	5	4	3	3	5	4	2	1	rs141395818		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:20618585C>T	ENST00000504154.1	+	35	4152	c.3900C>T	c.(3898-3900)aaC>aaT	p.N1300N	SLIT2_ENST00000503823.1_Silent_p.N1292N|SLIT2_ENST00000503837.1_Silent_p.N1296N|SLIT2_ENST00000273739.5_Silent_p.N1313N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1300	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTGGGCAGAACGGAACCAGCT	0.582													C|||	1	0.000199681	0	0	5008	,	,		17412	0		0.001	False		,,,				2504	0																0								C		0,4406		0,0,2203	52	50	51		3900	-10	0.3	4	dbSNP_134	51	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SLIT2	NM_004787.1		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		1300/1530	20618585	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3900C>T	4.37:g.20618585C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1300	ENST00000504154.1	37	c.3900	CCDS3426.1	4																																																																																			SLIT2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000145147		0.582	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2		0	15	0	C			20618585	1			no_errors	ENST00000504154	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.348	T	T	20618585	C	T	20618585	2	4	45	1	0	0	0	0	0	0	0	1	14785	535	19	1		1	SLIT2	4	20618585	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	16314835	20618585	170535691	75	10913											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23830118	23830118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtgggtttggtgtgaGgagggtcatcgtttgtggtc	3	16	17	5	1	2	1	1	1	1	0	5	2	2	2	0	5	0	2	0	5	0	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:23830118G>T	ENST00000264867.2	-	5	781	c.662C>A	c.(661-663)cCt>cAt	p.P221H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	221					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTTGGTGTGAGGAGGGTCATC	0.473																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													389	351	364					4																	23830118		2203	4300	6503	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.662C>A	4.37:g.23830118G>T	ENSP00000264867:p.Pro221His		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P221H	ENST00000264867.2	37	c.662	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748587	0.69533	.	.	ENSG00000109819	ENST00000264867	T	0.24538	1.85	6.17	6.17	0.99709	.	0.051131	0.85682	D	0.000000	T	0.52468	0.1736	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29243	-1.0018	10	0.14656	T	0.56	-7.8407	20.8794	0.99867	0.0:0.0:1.0:0.0	.	221	Q9UBK2	PRGC1_HUMAN	H	221	ENSP00000264867:P221H	ENSP00000264867:P221H	P	-	2	0	PPARGC1A	23439216	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.228000	0.72288	2.941000	0.99782	0.655000	0.94253	CCT	PPARGC1A	-	NULL	ENSG00000109819		0.473	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1		0	20	0	G	NM_013261		23830118	-1			no_errors	ENST00000264867	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T	T	23830118	G	T	23830118	3	4	45	1	0	0	0	0	1	0	0	0	12339	1000	35	3	1770	3	PPARGC1A	4	23830118	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3211533	23830118	167324158	76	10914											
NFXL1	152518	genome.wustl.edu	37	chr4	47915995	47915995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccattctcaccgctggctgCggtagtctgcagggcttggg	4	10	15	12	2	2	0	1	0	2	0	3	0	2	0	2	4	2	5	2	4	1	3	rs34148858		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:47915995C>A	ENST00000507489.1	-	2	402	c.226G>T	c.(226-228)Gca>Tca	p.A76S	NFXL1_ENST00000381538.3_Missense_Mutation_p.A76S|NFXL1_ENST00000329043.3_Missense_Mutation_p.A76S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	76						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CCGCTGGCTGCGGTAGTCTGC	0.662																																																	0													18	18	18					4																	47915995		1923	3645	5568	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.226G>T	4.37:g.47915995C>A	ENSP00000422037:p.Ala76Ser		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.A76S	ENST00000507489.1	37	c.226	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287721	0.40494	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.42131	0.98;0.98;0.98	4.56	3.7	0.42460	.	1.510140	0.04354	N	0.356138	T	0.31263	0.0791	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.20174	-1.0283	10	0.08599	T	0.76	1.3508	11.1729	0.48582	0.1834:0.8166:0.0:0.0	.	76	Q6ZNB6	NFXL1_HUMAN	S	76	ENSP00000370949:A76S;ENSP00000422037:A76S;ENSP00000333113:A76S	ENSP00000333113:A76S	A	-	1	0	NFXL1	47610752	0.004000	0.15560	0.001000	0.08648	0.092000	0.18411	0.603000	0.24149	0.869000	0.35703	0.484000	0.47621	GCA	NFXL1	-	NULL	ENSG00000170448		0.662	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1		0	10	0	C	NM_152995		47915995	-1			no_errors	ENST00000381538	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.005	A	A	47915995	C	A	47915995	3	1	45	1	0	0	0	0	1	0	0	0	10427	768	27	2	2597	2	NFXL1	4	47915995	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	24085877	47915995	143238281	77	10915											
NPFFR2	10886	genome.wustl.edu	37	chr4	72897917	72897917	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacagggctcgccgggagaGgtaacagcatgggccagttt	9	6	16	10	3	0	1	0	0	0	1	1	3	0	1	2	4	2	4	2	4	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:72897917G>A	ENST00000308744.6	+	1	397	c.299G>A	c.(298-300)aGg>aAg	p.R100K	NPFFR2_ENST00000344413.5_Splice_Site_p.R100K	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	100					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CGCCGGGAGAGGTAACAGCAT	0.612																																																	0													23	28	26					4																	72897917		2203	4300	6503	SO:0001630	splice_region_variant	0			AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"GPCR / Class A :  Neuropeptide receptors : FF/AF", "GPCR / Class A : RF amide peptide receptors"	4525	protein-coding gene	gene with protein product	"neuropeptide FF 2"	607449	"G protein-coupled receptor 74"	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.299+1G>A	4.37:g.72897917G>A			Q96RV1|Q9NR49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R100K	ENST00000308744.6	37	c.299	CCDS3551.1	4	.	.	.	.	.	.	.	.	.	.	G	13.49	2.252726	0.39797	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.72394	-0.65	2.91	2.04	0.26737	.	0.495612	0.14966	N	0.288089	T	0.47451	0.1446	N	0.19112	0.55	0.20074	N	0.999936	B	0.25105	0.118	B	0.21917	0.037	T	0.27606	-1.0069	10	0.07813	T	0.8	.	7.1454	0.25581	0.0:0.0:0.7331:0.2669	.	100	Q9Y5X5	NPFF2_HUMAN	K	100	ENSP00000307822:R100K	ENSP00000307822:R100K	R	+	2	0	NPFFR2	73116781	0.964000	0.33143	0.077000	0.20336	0.356000	0.29392	1.862000	0.39448	0.782000	0.33613	0.313000	0.20887	AGG	NPFFR2	-	NULL	ENSG00000056291		0.612	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	NPFFR2	HGNC	protein_coding	OTTHUMT00000252170.2	-	0	36	0	G	NM_004885	Missense_Mutation	72897917	1	tier1	-	no_errors	ENST00000308744	ensembl	human	known	74_37	missense	29.66	83	35	SNP	0.078	A	A	72897917	G	A	72897917	5	1	45	1	0	0	0	0	0	0	1	0	10617	1014	35	3	301	3	NPFFR2	4	72897917	Splice_Site	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	24981922	72897917	118256359	78	10916											
TACR3	6870	genome.wustl.edu	37	chr4	104640303	104640303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtccaccgcaatggccGtcatggagtagatgctggcg	8	8	13	12	3	1	1	1	0	0	1	2	2	2	2	4	3	1	3	4	3	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:104640303G>T	ENST00000304883.2	-	1	670	c.530C>A	c.(529-531)aCg>aAg	p.T177K		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	177					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CGCAATGGCCGTCATGGAGTA	0.507																																																	0													52	50	50					4																	104640303		2203	4300	6503	SO:0001583	missense	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.530C>A	4.37:g.104640303G>T	ENSP00000303325:p.Thr177Lys		Q0P510	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.T177K	ENST00000304883.2	37	c.530	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836679	0.71373	.	.	ENSG00000169836	ENST00000304883	T	0.74315	-0.83	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.212960	0.48767	D	0.000179	D	0.90830	0.7120	H	0.96996	3.92	0.58432	D	0.999997	D	0.89917	1.0	D	0.70227	0.968	D	0.93973	0.7251	10	0.87932	D	0	.	17.6101	0.88050	0.0:0.0:1.0:0.0	.	177	P29371	NK3R_HUMAN	K	177	ENSP00000303325:T177K	ENSP00000303325:T177K	T	-	2	0	TACR3	104859752	1.000000	0.71417	0.963000	0.40424	0.431000	0.31685	9.319000	0.96338	2.386000	0.81285	0.591000	0.81541	ACG	TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000169836		0.507	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1		0	8	0	G	NM_001059		104640303	-1			no_errors	ENST00000304883	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	104640303	G	T	104640303	3	4	45	1	0	0	0	0	1	0	0	0	15554	1145	40	2	887	2	TACR3	4	104640303	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	31742386	104640303	86513973	79	10917											
ANKRD50	57182	genome.wustl.edu	37	chr4	125591185	125591185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatttttggctgcaacacGcatagcagtgcgtccaaatt	10	12	8	11	2	0	0	0	0	0	0	2	0	2	0	2	1	4	4	2	1	3	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:125591185G>A	ENST00000504087.1	-	4	4284	c.3247C>T	c.(3247-3249)Cgt>Tgt	p.R1083C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1083								p.R1083C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTGCAACACGCATAGCAGTG	0.418																																																	1	Substitution - Missense(1)	prostate(1)											89	87	88					4																	125591185		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3247C>T	4.37:g.125591185G>A	ENSP00000425658:p.Arg1083Cys		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R1083C	ENST00000504087.1	37	c.3247	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382500	0.61845	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64085	-0.08;-0.08	5.51	4.65	0.58169	Ankyrin repeat-containing domain (4);	0.049734	0.85682	D	0.000000	T	0.68016	0.2955	L	0.29908	0.895	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.69566	-0.5111	10	0.49607	T	0.09	.	13.2518	0.60055	0.0:0.0:0.7022:0.2978	.	1083	Q9ULJ7	ANR50_HUMAN	C	1083;904	ENSP00000425658:R1083C;ENSP00000425355:R904C	ENSP00000425658:R1083C	R	-	1	0	ANKRD50	125810635	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.450000	0.52957	1.505000	0.48720	0.561000	0.74099	CGT	ANKRD50	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.418	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1		0	14	0	G	NM_020337		125591185	-1			no_errors	ENST00000504087	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	125591185	G	A	125591185	3	1	45	1	0	0	0	0	1	0	0	0	677	1087	38	1	1046	1	ANKRD50	4	125591185	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	20950882	125591185	65563091	80	10918											
GRIA2	2891	genome.wustl.edu	37	chr4	158255208	158255208	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggttgttacccttactgAgctcccttctggaaatgaca	10	13	8	10	0	1	2	0	2	1	0	2	3	2	3	2	2	3	3	2	2	4	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:158255208A>T	ENST00000264426.9	+	9	1481	c.1202A>T	c.(1201-1203)gAg>gTg	p.E401V	GRIA2_ENST00000393815.2_Missense_Mutation_p.E354V|GRIA2_ENST00000507898.1_Missense_Mutation_p.E354V|GRIA2_ENST00000296526.7_Missense_Mutation_p.E401V|GRIA2_ENST00000449365.1_Missense_Mutation_p.E354V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	401					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ACCCTTACTGAGCTCCCTTCT	0.398																																																	0													190	175	180					4																	158255208		2203	4300	6503	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1202A>T	4.37:g.158255208A>T	ENSP00000264426:p.Glu401Val		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E401V	ENST00000264426.9	37	c.1202	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989826	0.54041	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.14640	2.49;2.49;2.54;2.54;2.49	5.5	5.5	0.81552	.	0.235567	0.41500	D	0.000866	T	0.14356	0.0347	L	0.42245	1.32	0.48452	D	0.999657	B;B;B	0.12630	0.0;0.001;0.006	B;B;B	0.09377	0.0;0.001;0.004	T	0.03673	-1.1014	10	0.30854	T	0.27	.	15.8958	0.79333	1.0:0.0:0.0:0.0	.	401;401;354	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	V	354;354;401;401;354	ENSP00000426845:E354V;ENSP00000377403:E354V;ENSP00000296526:E401V;ENSP00000264426:E401V;ENSP00000389837:E354V	ENSP00000264426:E401V	E	+	2	0	GRIA2	158474658	1.000000	0.71417	0.951000	0.38953	0.957000	0.61999	7.324000	0.79115	2.209000	0.71365	0.482000	0.46254	GAG	GRIA2	-	superfamily_Peripla_BP_I	ENSG00000120251		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	-	0	13	0	A			158255208	1	tier1	-	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	15.94	58	11	SNP	0.999	T	T	158255208	A	T	158255208	3	4	45	1	0	0	0	0	1	0	0	0	6795	304	11	5	1236	5	GRIA2	4	158255208	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	32664023	158255208	32899068	81	10919											
PALLD	23022	genome.wustl.edu	37	chr4	169604255	169604255	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtctgtccctgtgcaacagGtaagtatgctttgagccaga	9	12	11	9	0	1	2	0	1	1	1	2	2	2	2	2	1	4	4	2	1	3	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:169604255G>A	ENST00000505667.1	+	5	1433		c.e5+1		PALLD_ENST00000335742.7_Splice_Site|PALLD_ENST00000512127.1_Splice_Site|PALLD_ENST00000261509.6_Splice_Site|PALLD_ENST00000333488.4_Splice_Site			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein						cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.?(2)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGTGCAACAGGTAAGTATGCT	0.423									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												2	Unknown(2)	prostate(2)											58	50	53					4																	169604255		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1260+1G>A	4.37:g.169604255G>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Splice_Site	SNP	-	e4+1	ENST00000505667.1	37	c.1260+1	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	12.93	2.086648	0.36855	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000504519;ENST00000512127;ENST00000513245;ENST00000503457	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3591	0.98849	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PALLD	169840830	1.000000	0.71417	0.998000	0.56505	0.063000	0.16089	7.766000	0.85320	2.816000	0.96949	0.561000	0.74099	.	PALLD	-	-	ENSG00000129116		0.423	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	-	0	11	0	G	NM_016081	Intron	169604255	1	tier1	-	no_errors	ENST00000261509	ensembl	human	known	74_37	splice_site	16.22	31	6	SNP	1.000	A	A	169604255	G	A	169604255	5	1	45	1	0	0	0	0	0	0	1	0	11446	1275	44	3	1275	3	PALLD	4	169604255	Splice_Site	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	11349047	169604255	21550021	82	10920											
TRIML2	205860	genome.wustl.edu	37	chr4	189013060	189013060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagatagtgccaggcAgggatgagctgtttcaggat	9	10	14	8	0	2	2	2	1	0	1	3	4	3	4	2	3	2	3	2	3	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr4:189013060A>G	ENST00000512729.1	-	7	1005	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R	TRIML2_ENST00000326754.3_Missense_Mutation_p.C236R	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	211	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGTGCCAGGCAGGGATGAGCT	0.483																																																	0													79	79	79					4																	189013060		2203	4300	6503	SO:0001583	missense	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.631T>C	4.37:g.189013060A>G	ENSP00000422581:p.Cys211Arg		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.C211R	ENST00000512729.1	37	c.631	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394898	0.25205	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.09163	3.6;3.01	5.64	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.914965	0.09332	N	0.816709	T	0.10637	0.0260	N	0.19112	0.55	0.09310	N	1	D;D	0.55800	0.973;0.973	P;P	0.53224	0.721;0.721	T	0.25117	-1.0141	10	0.26408	T	0.33	.	3.497	0.07658	0.6619:0.0:0.1727:0.1655	.	236;211	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	R	211;236	ENSP00000422581:C211R;ENSP00000317498:C236R	ENSP00000317498:C236R	C	-	1	0	TRIML2	189250054	0.000000	0.05858	0.121000	0.21740	0.616000	0.37450	-0.238000	0.08977	1.094000	0.41399	0.533000	0.62120	TGC	TRIML2	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000179046		0.483	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0	15	0	A	NM_173553		189013060	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.006	G	G	189013060	A	G	189013060	3	3	45	1	0	0	0	0	1	0	0	0	16599	188	7	4	536	4	TRIML2	4	189013060	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	19408805	189013060	2141216	83	10921											
SLC6A3	6531	genome.wustl.edu	37	chr5	1409228	1409228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtccaggagcgtgaagaCgtagatgccaccctggaaga	12	6	14	9	2	0	4	0	1	0	3	1	6	1	6	3	3	2	1	3	3	3	1	rs75916702		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:1409228C>T	ENST00000270349.9	-	11	1538	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V471I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	471			V -> I (in dbSNP:rs75916702). {ECO:0000269|PubMed:21179162}.		adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCGTGAAGACGTAGATGCCA	0.572																																																	0													55	48	51					5																	1409228		2201	4295	6496	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"Solute carriers"	11049	protein-coding gene	gene with protein product	"dopamine transporter"	126455	"solute carrier family 6 (neurotransmitter transporter, dopamine), member 3", "dopamine transporter 1"	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1411G>A	5.37:g.1409228C>T	ENSP00000270349:p.Val471Ile		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.V471I	ENST00000270349.9	37	c.1411	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850331	0.51270	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74315	-0.83;-0.83	3.65	3.65	0.41850	.	0.132318	0.49916	N	0.000126	T	0.75332	0.3835	L	0.46157	1.445	0.47547	D	0.999454	D	0.56287	0.975	P	0.52424	0.698	T	0.78740	-0.2086	10	0.66056	D	0.02	.	13.2113	0.59825	0.0:1.0:0.0:0.0	.	471	Q01959	SC6A3_HUMAN	I	471	ENSP00000270349:V471I;ENSP00000399806:V471I	ENSP00000270349:V471I	V	-	1	0	SLC6A3	1462228	0.998000	0.40836	0.989000	0.46669	0.664000	0.39144	3.355000	0.52262	2.042000	0.60477	0.555000	0.69702	GTC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.572	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3		0	14	0	C	NM_001044		1409228	-1			no_errors	ENST00000270349	ensembl	human	known	74_37	missense	12.16	65	9	SNP	0.999	T	T	1409228	C	T	1409228	3	4	45	1	0	0	0	0	1	0	0	0	14730	536	19	1	471	1	SLC6A3	5	1409228	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09		1409228	179506032	84	10922											
ADCY2	108	genome.wustl.edu	37	chr5	7802384	7802384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgtttgcctccattccGgatttcaaagaattttatac	10	16	6	9	1	2	1	2	0	0	1	4	2	4	2	3	1	2	1	3	1	4	6	rs201615098		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:7802384G>A	ENST00000338316.4	+	21	2771	c.2682G>A	c.(2680-2682)ccG>ccA	p.P894P	ADCY2_ENST00000537121.1_Silent_p.P714P	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	894					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.P894P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCTCCATTCCGGATTTCAAAG	0.473																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	79	78	79		2682	0.3	1	5		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY2	NM_020546.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		894/1092	7802384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2682G>A	5.37:g.7802384G>A			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P894	ENST00000338316.4	37	c.2682	CCDS3872.2	5																																																																																			ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000078295		0.473	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2		0	9	0	G	NM_020546		7802384	1			no_errors	ENST00000338316	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.961	A	A	7802384	G	A	7802384	2	1	45	1	0	0	0	0	0	0	0	1	294	1103	39	1		1	ADCY2	5	7802384	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	6393156	7802384	173112876	85	10923											
DNAH5	1767	genome.wustl.edu	37	chr5	13752328	13752328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctccaacatcttcaataAgcaaaggccttccaagagaa	15	8	5	13	0	3	1	1	0	2	1	5	2	4	1	4	1	2	1	4	1	6	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:13752328A>G	ENST00000265104.4	-	64	11047	c.10943T>C	c.(10942-10944)cTt>cCt	p.L3648P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3648	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTTCAATAAGCAAAGGCCT	0.398									Kartagener syndrome																																								0													150	135	140					5																	13752328		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10943T>C	5.37:g.13752328A>G	ENSP00000265104:p.Leu3648Pro		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3648P	ENST00000265104.4	37	c.10943	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	24.0	4.483107	0.84747	.	.	ENSG00000039139	ENST00000265104	T	0.35789	1.29	5.72	5.72	0.89469	.	0.134329	0.49305	D	0.000154	T	0.78553	0.4301	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88603	0.3151	10	0.87932	D	0	.	16.2988	0.82793	1.0:0.0:0.0:0.0	.	3648	Q8TE73	DYH5_HUMAN	P	3648	ENSP00000265104:L3648P	ENSP00000265104:L3648P	L	-	2	0	DNAH5	13805328	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	8.740000	0.91579	2.311000	0.77944	0.533000	0.62120	CTT	DNAH5	-	NULL	ENSG00000039139		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	17	0	A	NM_001369		13752328	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	69.79	29	67	SNP	1.000	G	G	13752328	A	G	13752328	3	3	45	1	0	0	0	0	1	0	0	0	4618	72	3	4	2995	4	DNAH5	5	13752328	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	5949944	13752328	167162932	86	10924											
CMYA5	202333	genome.wustl.edu	37	chr5	79027241	79027241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatatgttgttctatcagacGaagaggcagtcgagttggaa	13	11	12	5	2	2	2	1	0	1	2	3	5	2	3	0	2	0	4	0	2	5	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:79027241G>A	ENST00000446378.2	+	2	2684	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	885					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCTATCAGACGAAGAGGCAGT	0.483																																																	0													76	74	75					5																	79027241		1981	4155	6136	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2653G>A	5.37:g.79027241G>A	ENSP00000394770:p.Glu885Lys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E885K	ENST00000446378.2	37	c.2653	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194245	0.38806	.	.	ENSG00000164309	ENST00000446378	T	0.51325	0.71	5.87	4.99	0.66335	.	0.366647	0.23342	N	0.049232	T	0.42899	0.1223	M	0.77820	2.39	0.09310	N	1	P	0.47106	0.89	B	0.35655	0.207	T	0.53753	-0.8394	10	0.40728	T	0.16	.	8.8144	0.34987	0.0807:0.1497:0.7695:0.0	.	885	Q8N3K9	CMYA5_HUMAN	K	885	ENSP00000394770:E885K	ENSP00000394770:E885K	E	+	1	0	CMYA5	79062997	0.689000	0.27690	0.155000	0.22561	0.063000	0.16089	3.521000	0.53472	2.791000	0.96007	0.655000	0.94253	GAA	CMYA5	-	NULL	ENSG00000164309		0.483	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	9	0	G	NM_153610		79027241	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.055	A	A	79027241	G	A	79027241	3	1	45	1	0	0	0	0	1	0	0	0	3597	1059	37	1	2659	1	CMYA5	5	79027241	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	65274913	79027241	101888019	87	10925											
EPB41L4A	64097	genome.wustl.edu	37	chr5	111595633	111595633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattcttgtacacaacaacaCcaaccggagttaatcctaag	15	10	5	11	1	1	0	0	0	1	0	2	1	2	1	3	1	4	2	3	1	7	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:111595633C>A	ENST00000261486.5	-	8	962	c.686G>T	c.(685-687)gGt>gTt	p.G229V	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	229	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACAACAACACCAACCGGAGT	0.378																																																	0													158	152	154					5																	111595633		1845	4085	5930	SO:0001583	missense	0			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.686G>T	5.37:g.111595633C>A	ENSP00000261486:p.Gly229Val		A4FUI6	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.G229V	ENST00000261486.5	37	c.686	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468395	0.84533	.	.	ENSG00000129595	ENST00000261486	D	0.98150	-4.75	5.58	5.58	0.84498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99581	1.0973	10	0.87932	D	0	.	18.6924	0.91588	0.0:1.0:0.0:0.0	.	229	Q9HCS5	E41LA_HUMAN	V	229	ENSP00000261486:G229V	ENSP00000261486:G229V	G	-	2	0	EPB41L4A	111623532	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	6.106000	0.71511	2.780000	0.95670	0.655000	0.94253	GGT	EPB41L4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000129595		0.378	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1		0	14	0	C			111595633	-1			no_errors	ENST00000261486	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	111595633	C	A	111595633	3	1	45	1	0	0	0	0	1	0	0	0	5171	507	18	3	1438	3	EPB41L4A	5	111595633	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	32568392	111595633	69319627	88	10926											
FBN2	2201	genome.wustl.edu	37	chr5	127681105	127681105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttagcaaagccagccccgCgggggcacagcgtctcgtat	8	6	14	13	4	1	0	0	0	1	0	2	0	1	0	3	3	4	4	3	3	3	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:127681105C>T	ENST00000508053.1	-	30	4135	c.3161G>A	c.(3160-3162)cGc>cAc	p.R1054H	FBN2_ENST00000262464.4_Missense_Mutation_p.R1054H|FBN2_ENST00000508989.1_Missense_Mutation_p.R1021H			P35556	FBN2_HUMAN	fibrillin 2	1054					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCAGCCCCGCGGGGGCACAG	0.622																																																	0													81	87	85					5																	127681105		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3161G>A	5.37:g.127681105C>T	ENSP00000424571:p.Arg1054His		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R1054H	ENST00000508053.1	37	c.3161	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831045	0.91036	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.90676	-2.71;-2.71;-2.71	4.32	4.32	0.51571	Matrix fibril-associated (2);	0.000000	0.56097	D	0.000021	D	0.93396	0.7894	L	0.45470	1.425	0.49213	D	0.999768	D;D	0.76494	0.998;0.999	D;D	0.76071	0.925;0.987	D	0.93178	0.6572	10	0.49607	T	0.09	.	18.1231	0.89578	0.0:1.0:0.0:0.0	.	1021;1054	D6RJI3;P35556	.;FBN2_HUMAN	H	1054;1054;1021	ENSP00000262464:R1054H;ENSP00000424571:R1054H;ENSP00000425596:R1021H	ENSP00000262464:R1054H	R	-	2	0	FBN2	127709004	0.992000	0.36948	0.996000	0.52242	0.755000	0.42902	7.575000	0.82447	2.701000	0.92244	0.563000	0.77884	CGC	FBN2	-	pirsf_FBN,superfamily_TB_dom	ENSG00000138829		0.622	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	9	0	C	NM_001999		127681105	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	22.95	47	14	SNP	1.000	T	T	127681105	C	T	127681105	3	4	45	1	0	0	0	0	1	0	0	0	5725	768	27	1	5745	1	FBN2	5	127681105	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	16085472	127681105	53234155	89	10927											
IL3	3562	genome.wustl.edu	37	chr5	131396415	131396415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatgagccgcctgcccGtcctgctcctgctccaactc	7	8	7	19	2	0	1	0	1	0	0	4	1	3	1	6	0	6	2	6	0	2	0	rs370114748		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:131396415G>A	ENST00000296870.2	+	1	194	c.16G>A	c.(16-18)Gtc>Atc	p.V6I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	6					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	CCGCCTGCCCGTCCTGCTCCT	0.577													G|||	1	0.000199681	0	0	5008	,	,		18346	0.001		0	False		,,,				2504	0																0													96	88	91					5																	131396415		2203	4300	6503	SO:0001583	missense	0			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.16G>A	5.37:g.131396415G>A	ENSP00000296870:p.Val6Ile		Q6GS87	Missense_Mutation	SNP	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	p.V6I	ENST00000296870.2	37	c.16	CCDS4149.1	5	.	.	.	.	.	.	.	.	.	.	G	1.486	-0.555980	0.03967	.	.	ENSG00000164399	ENST00000296870	T	0.19105	2.17	4.68	-5.56	0.02529	.	2.098050	0.01730	N	0.028797	T	0.07369	0.0186	N	0.02247	-0.625	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32268	-0.9913	10	0.09338	T	0.73	-2.5634	8.4264	0.32731	0.3035:0.1452:0.5514:0.0	.	6	P08700	IL3_HUMAN	I	6	ENSP00000296870:V6I	ENSP00000296870:V6I	V	+	1	0	IL3	131424314	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.088000	0.03379	-0.966000	0.03587	-1.799000	0.00621	GTC	IL3	-	pirsf_IL-3	ENSG00000164399		0.577	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3	HGNC	protein_coding	OTTHUMT00000132639.1	-	0	13	0	G	NM_000588		131396415	1	tier1	-	no_errors	ENST00000296870	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	A	A	131396415	G	A	131396415	3	1	45	1	0	0	0	0	1	0	0	0	7716	1145	40	1	18	1	IL3	5	131396415	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3715310	131396415	49518845	90	10928											
IL3	3562	genome.wustl.edu	37	chr5	131398459	131398459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcgcaggctcaacagaCgactttgagcctcgcgatct	10	8	11	12	4	2	2	1	1	1	1	3	5	2	2	1	1	3	2	1	1	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:131398459C>T	ENST00000296870.2	+	5	612	c.434C>T	c.(433-435)aCg>aTg	p.T145M		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	145					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GCTCAACAGACGACTTTGAGC	0.498											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													87	88	88					5																	131398459		2203	4300	6503	SO:0001583	missense	0			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"Interleukins and interleukin receptors"	6011	protein-coding gene	gene with protein product	"multilineage-colony-stimulating factor", "hematopoietic growth factor", "P-cell stimulating factor", "mast-cell growth factor", "colony-stimulating factor, multiple"	147740	"interleukin 3 (colony-stimulating factor, multiple)"			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.434C>T	5.37:g.131398459C>T	ENSP00000296870:p.Thr145Met	1587	Q6GS87	Missense_Mutation	SNP	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	p.T145M	ENST00000296870.2	37	c.434	CCDS4149.1	5	.	.	.	.	.	.	.	.	.	.	C	1.231	-0.624094	0.03636	.	.	ENSG00000164399	ENST00000296870	T	0.22539	1.95	3.86	-7.71	0.01254	.	4.722950	0.00357	N	0.000033	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18555	-1.0333	10	0.27785	T	0.31	.	3.489	0.07630	0.1217:0.4377:0.1026:0.338	.	145	P08700	IL3_HUMAN	M	145	ENSP00000296870:T145M	ENSP00000296870:T145M	T	+	2	0	IL3	131426358	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.812000	0.04496	-3.436000	0.00163	-3.847000	0.00018	ACG	IL3	-	pirsf_IL-3	ENSG00000164399		0.498	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3	HGNC	protein_coding	OTTHUMT00000132639.1	-	0	13	0	C	NM_000588		131398459	1	tier1	-	no_errors	ENST00000296870	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.000	T	T	131398459	C	T	131398459	3	4	45	1	0	0	0	0	1	0	0	0	7716	536	19	1	452	1	IL3	5	131398459	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2044	131398459	49516801	91	10929											
PCDHA1	56147	genome.wustl.edu	37	chr5	140166141	140166141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtttgtgaattctcGgatcgatcgcgaggagctgt	7	15	12	7	4	1	1	0	1	1	0	4	5	1	3	0	2	1	2	0	2	1	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140166141G>A	ENST00000504120.2	+	1	266	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R89Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R89Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATCGATCGC	0.582																																																	0													88	94	92					5																	140166141		2203	4300	6503	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.266G>A	5.37:g.140166141G>A	ENSP00000420840:p.Arg89Gln		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R89Q	ENST00000504120.2	37	c.266	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	g	15.08	2.728054	0.48833	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.34859	1.34;1.34;1.34	4.31	3.44	0.39384	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.205916	0.24267	U	0.040029	T	0.58949	0.2158	M	0.91872	3.25	0.21719	N	0.999571	D;D;D	0.65815	0.995;0.984;0.982	P;P;P	0.59012	0.85;0.697;0.766	T	0.55554	-0.8123	10	0.87932	D	0	.	7.7599	0.28946	0.0846:0.0:0.7556:0.1598	.	89;89;89	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Q	89	ENSP00000420840:R89Q;ENSP00000378129:R89Q;ENSP00000367373:R89Q	ENSP00000367373:R89Q	R	+	2	0	PCDHA1	140146325	0.792000	0.28813	1.000000	0.80357	0.329000	0.28539	1.737000	0.38197	0.947000	0.37659	-0.143000	0.13931	CGG	PCDHA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204970		0.582	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	-	0	37	0	G	NM_018900		140166141	1	tier1	-	no_errors	ENST00000504120	ensembl	human	known	74_37	missense	23.16	73	22	SNP	0.994	A	A	140166141	G	A	140166141	3	1	45	1	0	0	0	0	1	0	0	0	11558	1116	39	1	268	1	PCDHA1	5	140166141	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	8767682	140166141	40749119	92	10930											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229433	140229433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgcaccagcgttcgcgcagtc	9	5	13	14	7	0	1	0	1	0	0	2	3	0	1	2	1	3	3	2	1	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140229433C>T	ENST00000532602.1	+	1	2386	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.N451N|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCACCAGCGT	0.672																																					Melanoma(55;1800 1972 14909)												0													90	83	85					5																	140229433		2196	4270	6466	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1353C>T	5.37:g.140229433C>T			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N451	ENST00000532602.1	37	c.1353	CCDS54920.1	5																																																																																			PCDHA9	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204961		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	50	0	C	NM_031857		140229433	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	20.00	116	29	SNP	0.993	T	T	140229433	C	T	140229433	2	4	45	1	0	0	0	0	0	0	0	1	11570	535	19	1		1	PCDHA9	5	140229433	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	63292	140229433	40685827	93	10931											
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750854	140750854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcaagctggacagtaaaaCgggggaactcaccactattg	13	8	11	9	1	2	0	2	0	0	0	2	2	2	2	1	3	3	3	1	3	5	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140750854C>T	ENST00000576222.1	+	1	1024	c.893C>T	c.(892-894)aCg>aTg	p.T298M	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGTAAAACGGGGGAACTC	0.453																																																	0													142	144	143					5																	140750854		1981	4171	6152	SO:0001583	missense	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.893C>T	5.37:g.140750854C>T	ENSP00000461862:p.Thr298Met		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T298M	ENST00000576222.1	37	c.893	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262209		0.453	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1		0	13	0	C	NM_018924		140750854	1			no_errors	ENST00000576222	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.010	T	T	140750854	C	T	140750854	3	4	45	1	0	0	0	0	1	0	0	0	11603	536	19	1	895	1	PCDHGB3	5	140750854	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	521421	140750854	40164406	94	10932											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140799290	140799290	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcttcagcctggggctgCgaacaggcgaggtgcgcatg	6	7	17	11	3	2	0	1	0	1	0	2	2	2	0	1	5	4	3	1	5	1	1	rs373666366		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:140799290C>T	ENST00000398594.2	+	1	1864	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGGCTGCGAACAGGCGA	0.657																																																	0													46	52	50					5																	140799290		2188	4285	6473	SO:0001587	stop_gained	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1864C>T	5.37:g.140799290C>T	ENSP00000381594:p.Arg622*		Q9UN63	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R622*	ENST00000398594.2	37	c.1864	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	c	20.2	3.954270	0.73902	.	.	ENSG00000254122	ENST00000398594	.	.	.	5.57	5.57	0.84162	.	0.000000	0.33691	U	0.004648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	12.5213	0.56060	0.0:0.9231:0.0:0.0769	.	.	.	.	X	622	.	ENSP00000381594:R622X	R	+	1	2	PCDHGB7	140779474	0.000000	0.05858	1.000000	0.80357	0.046000	0.14306	1.339000	0.33885	2.619000	0.88677	0.491000	0.48974	CGA	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.657	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	12	0	C	NM_018927		140799290	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	nonsense	23.53	38	12	SNP	1.000	T	T	140799290	C	T	140799290	4	4	45	1	0	0	0	0	0	1	0	0	11607	760	27	1	1866	1	PCDHGB7	5	140799290	Nonsense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	48436	140799290	40115970	95	10933											
RBM27	54439	genome.wustl.edu	37	chr5	145609304	145609304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagaaaaaaagagaagaCgggaaatggagagactatga	20	4	14	3	2	0	5	0	2	0	4	0	10	0	7	0	2	0	0	0	2	6	1	rs549958493	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:145609304C>T	ENST00000265271.5	+	5	586	c.420C>T	c.(418-420)gaC>gaT	p.D140D	RBM27_ENST00000506502.1_Silent_p.D140D	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	140	Arg-rich.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAGAAGACGGGAAATGGA	0.398													C|||	2	0.000399361	0	0	5008	,	,		15608	0.001		0.001	False		,,,				2504	0																0													163	159	160					5																	145609304		1568	3582	5150	SO:0001819	synonymous_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.420C>T	5.37:g.145609304C>T			Q8IYW9	Silent	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D140	ENST00000265271.5	37	c.420	CCDS43378.1	5																																																																																			RBM27	-	NULL	ENSG00000091009		0.398	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0	12	0	C	XM_291128		145609304	1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	silent	34.38	21	11	SNP	1.000	T	T	145609304	C	T	145609304	2	4	45	1	0	0	0	0	0	0	0	1	13172	535	19	1		1	RBM27	5	145609304	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	4810014	145609304	35305956	96	10934											
ARHGEF37	389337	genome.wustl.edu	37	chr5	148980732	148980732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatatcatcaaagtgaacaGcagattcctccatgatctgc	13	11	7	10	0	3	4	2	3	1	1	5	4	5	4	2	0	3	1	2	0	3	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:148980732G>T	ENST00000333677.6	+	3	411	c.248G>T	c.(247-249)aGc>aTc	p.S83I		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	83	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAAGTGAACAGCAGATTCCTC	0.468																																																	0													109	110	109					5																	148980732		1964	4170	6134	SO:0001583	missense	0			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.248G>T	5.37:g.148980732G>T	ENSP00000328083:p.Ser83Ile		Q6ZW51	Missense_Mutation	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.S83I	ENST00000333677.6	37	c.248	CCDS43385.1	5	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828273	0.50845	.	.	ENSG00000183111	ENST00000505810;ENST00000333677	T;T	0.65178	-0.14;-0.14	5.4	3.6	0.41247	Dbl homology (DH) domain (5);	0.240176	0.31872	U	0.006932	T	0.54759	0.1878	L	0.37697	1.125	0.38561	D	0.949703	P	0.43542	0.81	P	0.46629	0.522	T	0.54510	-0.8283	10	0.38643	T	0.18	.	8.4851	0.33067	0.1768:0.0:0.8232:0.0	.	83	A1IGU5	ARH37_HUMAN	I	83	ENSP00000425621:S83I;ENSP00000328083:S83I	ENSP00000328083:S83I	S	+	2	0	ARHGEF37	148960925	1.000000	0.71417	0.999000	0.59377	0.565000	0.35776	1.016000	0.29976	0.832000	0.34804	0.561000	0.74099	AGC	ARHGEF37	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000183111		0.468	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1		0	10	0	G	NM_001001669		148980732	1			no_errors	ENST00000333677	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	148980732	G	T	148980732	3	4	45	1	0	0	0	0	1	0	0	0	906	971	34	3	254	3	ARHGEF37	5	148980732	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3371428	148980732	31934528	97	10935											
NUDCD2	134492	genome.wustl.edu	37	chr5	162884088	162884089	+	Splice_Site	INS	-	-	A																															gaaccatttttctgtcctctINSaaaaaaaaaacacacacaca																										TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr5:162884088_162884089insA	ENST00000302764.4	-	3	328		c.e3-2		NUDCD2_ENST00000519395.1_Splice_Site|NUDCD2_ENST00000517501.1_Intron	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTCTGTCCTCTAAAAAAAAAAC	0.366																																																	0																																										SO:0001630	splice_region_variant	0			BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.239-2->T	5.37:g.162884098_162884098dupA			B2R4V0	Splice_Site	INS	-	e3-2	ENST00000302764.4	37	c.239-3_239-2	CCDS4361.1	5																																																																																			NUDCD2	-	-	ENSG00000170584		0.366	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	HGNC	protein_coding	OTTHUMT00000252747.3		0	9	0	-	NM_145266	Intron	162884089	-1	tier1		no_errors	ENST00000302764	ensembl	human	known	74_37	splice_site_ins	25.00	27	9	INS	0.984:0.001	A	A	162884089	-	A	162884088	8	5	45	1	0	1	1	0	0	0	1	0	10762	1536	53	0	244	0	NUDCD2	5	162884088	Splice_Site	INS	-	TCGA-JY-A93E-01A-11D-A37C-09	13903356	162884088	18031172	98	10936											
JARID2	3720	genome.wustl.edu	37	chr6	15520334	15520334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggtcaatcagatctgcgGcaaagtgtctggtaaaaacg	12	10	11	8	2	5	1	2	0	3	1	5	1	5	1	0	3	2	2	0	3	5	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:15520334G>A	ENST00000341776.2	+	18	3837	c.3593G>A	c.(3592-3594)gGc>gAc	p.G1198D	JARID2_ENST00000397311.3_Missense_Mutation_p.G1026D	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1198					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAGATCTGCGGCAAAGTGTCT	0.502																																																	0													78	69	72					6																	15520334		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3593G>A	6.37:g.15520334G>A	ENSP00000341280:p.Gly1198Asp		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.G1198D	ENST00000341776.2	37	c.3593	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428206	0.62844	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	D;D	0.84660	-1.88;-1.88	5.71	5.71	0.89125	.	0.050281	0.85682	D	0.000000	D	0.84410	0.5466	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79536	-0.1763	10	0.12430	T	0.62	-15.6657	19.8484	0.96730	0.0:0.0:1.0:0.0	.	1198	Q92833	JARD2_HUMAN	D	1198;1026	ENSP00000341280:G1198D;ENSP00000380478:G1026D	ENSP00000341280:G1198D	G	+	2	0	JARID2	15628313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.901000	0.92560	2.684000	0.91462	0.655000	0.94253	GGC	JARID2	-	NULL	ENSG00000008083		0.502	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1		0	26	0	G	NM_004973		15520334	1			no_errors	ENST00000341776	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	15520334	G	A	15520334	3	1	45	1	0	0	0	0	1	0	0	0	7972	1203	42	3	3663	3	JARID2	6	15520334	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		15520334	155594733	99	10937											
MYLIP	29116	genome.wustl.edu	37	chr6	16130975	16130975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcttacaggagcagaCtaggtaaagtgagctaaaat	15	10	9	7	0	2	2	1	1	2	1	3	3	2	3	0	2	3	3	0	2	6	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:16130975C>T	ENST00000356840.3	+	2	473	c.275C>T	c.(274-276)aCt>aTt	p.T92I	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	92	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CAGGAGCAGACTAGGTAAAGT	0.468																																																	0													63	59	60					6																	16130975		2203	4300	6503	SO:0001583	missense	0			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.275C>T	6.37:g.16130975C>T	ENSP00000349298:p.Thr92Ile		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.T92I	ENST00000356840.3	37	c.275	CCDS4536.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.166304	0.94768	.	.	ENSG00000007944	ENST00000356840	T	0.36157	1.27	5.69	5.69	0.88448	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.67439	0.2893	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74668	-0.3588	10	0.87932	D	0	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	92	Q8WY64	MYLIP_HUMAN	I	92	ENSP00000349298:T92I	ENSP00000349298:T92I	T	+	2	0	MYLIP	16238954	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	7.651000	0.83577	2.840000	0.97914	0.655000	0.94253	ACT	MYLIP	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000007944		0.468	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLIP	HGNC	protein_coding	OTTHUMT00000043864.1	-	0	15	0	C	NM_013262		16130975	1	tier1	-	no_errors	ENST00000356840	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	T	T	16130975	C	T	16130975	3	4	45	1	0	0	0	0	1	0	0	0	10093	565	20	3	281	3	MYLIP	6	16130975	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	610641	16130975	154984092	100	10938											
LRRC16A	55604	genome.wustl.edu	37	chr6	25500404	25500404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcccctcagagcactgttaTtgggcctggcttgtaatcat	7	13	9	12	0	2	1	2	0	0	1	3	1	3	1	3	2	1	4	3	2	2	4	rs371805264		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:25500404T>C	ENST00000329474.6	+	17	1704	c.1336T>C	c.(1336-1338)Ttg>Ctg	p.L446L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	446					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCACTGTTATTGGGCCTGGC	0.413																																																	0								T	,	2,3772		0,2,1885	159	145	150		1336,1336	-10.7	0	6		150	0,8238		0,0,4119	no	coding-synonymous,coding-synonymous	LRRC16A	NM_001173977.1,NM_017640.5	,	0,2,6004	CC,CT,TT		0.0,0.053,0.0167	,	446/1366,446/1372	25500404	2,12010	1887	4119	6006	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1336T>C	6.37:g.25500404T>C			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L446	ENST00000329474.6	37	c.1336	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.413	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0	26	0	T	NM_017640		25500404	1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	19.59	119	29	SNP	0.003	C	C	25500404	T	C	25500404	2	2	45	1	0	0	0	0	0	0	0	1	9006	1490	52	4		4	LRRC16A	6	25500404	Silent	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	9369429	25500404	145614663	101	10939											
HLA-DQA2	3118	genome.wustl.edu	37	chr6	32713598	32713598	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcacagtgttttccaagtTtcctgtgacgctgggtcagc	6	13	12	10	1	2	1	2	1	0	0	4	1	4	1	2	2	1	3	2	2	1	3	rs138296677	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:32713598T>C	ENST00000374940.3	+	3	464	c.362T>C	c.(361-363)tTt>tCt	p.F121S		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	121	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""Insulin(DB00071)"	TTTTCCAAGTTTCCTGTGACG	0.512													T|||	352	0.0702875	0.0961	0.0677	5008	,	,		25198	0.0873		0.0507	False		,,,				2504	0.0399																0													179	140	154					6																	32713598		1511	2709	4220	SO:0001583	missense	0				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.362T>C	6.37:g.32713598T>C	ENSP00000364076:p.Phe121Ser		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.F121S	ENST00000374940.3	37	c.362	CCDS4753.1	6	.	.	.	.	.	.	.	.	.	.	.	0	-2.802170	0.00075	.	.	ENSG00000237541	ENST00000374940	T	0.00572	6.49	3.06	-0.236	0.13067	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.726686	0.12656	N	0.450006	T	0.00039	0.0001	N	0.00308	-1.67	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24119	-1.0169	10	0.02654	T	1	.	0.5152	0.00602	0.1938:0.3561:0.1905:0.2596	.	121	P01906	DQA2_HUMAN	S	121	ENSP00000364076:F121S	ENSP00000364076:F121S	F	+	2	0	HLA-DQA2	32821576	0.000000	0.05858	0.837000	0.33122	0.054000	0.15201	0.039000	0.13884	0.145000	0.18977	-1.188000	0.01700	TTT	HLA-DQA2	-	pfscan_Ig-like_dom	ENSG00000237541		0.512	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	-	0	36	0	T	NM_020056		32713598	1	tier1	rs138296677	no_errors	ENST00000374940	ensembl	human	known	74_37	missense	13.68	82	13	SNP	0.252	C	C	32713598	T	C	32713598	3	2	45	1	0	0	0	0	1	0	0	0	7232	1841	64	4	372	4	HLA-DQA2	6	32713598	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	7213194	32713598	138401469	102	10940											
TCP11	6954	genome.wustl.edu	37	chr6	35108644	35108644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacactctccttgacgtctgGcattttgctgatggtatctg	6	15	9	11	1	3	2	0	2	3	0	4	2	3	2	1	2	1	3	1	2	1	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:35108644G>T	ENST00000512012.1	-	1	160	c.4C>A	c.(4-6)Cca>Aca	p.P2T	TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000373979.2_5'UTR|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000311875.5_Missense_Mutation_p.P15T|TCP11_ENST00000444780.2_Missense_Mutation_p.P15T			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	2					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGACGTCTGGCATTTTGCTG	0.622																																																	0													40	42	42					6																	35108644		2049	4192	6241	SO:0001583	missense	0				CCDS4799.1, CCDS47413.1, CCDS59015.1, CCDS59016.1, CCDS59017.1, CCDS59018.1	6p21.31	2012-09-20	2012-09-20		ENSG00000124678	ENSG00000124678			11658	protein-coding gene	gene with protein product	"fertilization-promoting peptide receptor"	186982	"t-complex 11 (a murine tcp homolog)", "t-complex 11 homolog (mouse)"	D6S230E		1427894, 11756566, 21597245	Standard	NM_001093728		Approved	KIAA0229, FPPR	uc003okd.2	Q8WWU5	OTTHUMG00000014560	ENST00000512012.1:c.4C>A	6.37:g.35108644G>T	ENSP00000425995:p.Pro2Thr		B2RCE9|B3KQ27|B7Z7B5|B7Z7G1|B7Z7H4|B7Z7S8|E7EP29|J3KNG1|Q8NF85|Q9NQZ9|Q9NR39	Missense_Mutation	SNP	pfam_Tcp11	p.P15T	ENST00000512012.1	37	c.43		6	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244185	0.39697	.	.	ENSG00000124678	ENST00000311875;ENST00000444780;ENST00000512012	T;T;T	0.14766	2.65;2.82;2.48	3.36	2.45	0.29901	.	0.723471	0.12462	N	0.466783	T	0.03095	0.0091	N	0.19112	0.55	0.39412	D	0.966779	B;B	0.31680	0.246;0.335	B;B	0.27170	0.077;0.071	T	0.36601	-0.9741	10	0.45353	T	0.12	.	7.9908	0.30239	0.0:0.0:0.7343:0.2657	.	15;75	B7Z7B5;Q5TB88	.;.	T	15;15;2	ENSP00000308708:P15T;ENSP00000404479:P15T;ENSP00000425995:P2T	ENSP00000308708:P15T	P	-	1	0	TCP11	35216622	0.868000	0.29978	0.384000	0.26145	0.224000	0.24922	0.801000	0.27055	0.939000	0.37446	0.650000	0.86243	CCA	TCP11	-	NULL	ENSG00000124678		0.622	TCP11-014	PUTATIVE	basic	protein_coding	TCP11	HGNC	protein_coding	OTTHUMT00000370354.1		0	11	0	G	NM_001093728		35108644	-1			no_errors	ENST00000311875	ensembl	human	known	74_37	missense	7.14	25	2	SNP	0.414	T	T	35108644	G	T	35108644	3	4	45	1	0	0	0	0	1	0	0	0	15760	1203	42	3	1597	3	TCP11	6	35108644	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2395046	35108644	136006423	103	10941											
TBC1D22B	55633	genome.wustl.edu	37	chr6	37247304	37247304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagtaaaaccagaacGgtcccagtcaacgacatcgg	14	5	11	11	3	1	2	1	1	0	2	3	4	2	2	2	2	3	2	2	2	4	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:37247304G>A	ENST00000373491.3	+	3	484	c.338G>A	c.(337-339)cGg>cAg	p.R113Q		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	113							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAACCAGAACGGTCCCAGTCA	0.483																																																	0													110	106	107					6																	37247304		2203	4300	6503	SO:0001583	missense	0			AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 197"	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.338G>A	6.37:g.37247304G>A	ENSP00000362590:p.Arg113Gln		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R113Q	ENST00000373491.3	37	c.338	CCDS4832.1	6	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005768	0.35415	.	.	ENSG00000065491	ENST00000373491	T	0.14516	2.5	5.56	5.56	0.83823	.	0.250062	0.39475	N	0.001359	T	0.02848	0.0085	N	0.05124	-0.11	0.51482	D	0.999921	B	0.02656	0.0	B	0.04013	0.001	T	0.41875	-0.9484	10	0.12430	T	0.62	.	16.7943	0.85597	0.0:0.0:1.0:0.0	.	113	Q9NU19	TB22B_HUMAN	Q	113	ENSP00000362590:R113Q	ENSP00000362590:R113Q	R	+	2	0	TBC1D22B	37355282	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.976000	0.63785	2.766000	0.95052	0.655000	0.94253	CGG	TBC1D22B	-	NULL	ENSG00000065491		0.483	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22B	HGNC	protein_coding	OTTHUMT00000040402.1	-	0	11	0	G	NM_017772		37247304	1	tier1	-	no_errors	ENST00000373491	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	A	A	37247304	G	A	37247304	3	1	45	1	0	0	0	0	1	0	0	0	15659	1116	39	1	348	1	TBC1D22B	6	37247304	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2138660	37247304	133867763	104	10942											
PGC	5225	genome.wustl.edu	37	chr6	41712488	41712488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggtcctcaggaactcccCcagcaagcccttctccttca	7	9	8	17	0	3	0	2	0	1	0	6	1	5	1	5	2	3	1	5	2	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:41712488C>T	ENST00000373025.3	-	2	180	c.118G>A	c.(118-120)Ggg>Agg	p.G40R	PGC_ENST00000425343.2_Missense_Mutation_p.G40R	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	40				GE -> ED (in Ref. 10; AA sequence). {ECO:0000305}.	digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGAACTCCCCCAGCAAGCCC	0.537																																																	0													79	67	71					6																	41712488		2203	4300	6503	SO:0001583	missense	0				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.118G>A	6.37:g.41712488C>T	ENSP00000362116:p.Gly40Arg		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.G40R	ENST00000373025.3	37	c.118	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	C	4.507	0.094071	0.08632	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000394278;ENST00000356667;ENST00000425343;ENST00000415707	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.42	-2.09	0.07232	Peptidase aspartic (1);Propeptide, peptidase A1 (1);	1.077800	0.06983	N	0.820227	T	0.11153	0.0272	L	0.35854	1.095	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.34527	-0.9825	10	0.62326	D	0.03	.	1.2015	0.01886	0.2144:0.3218:0.1056:0.3582	.	40	P20142	PEPC_HUMAN	R	40;40;40;40;40;44	ENSP00000362116:G40R;ENSP00000349094:G40R;ENSP00000405094:G40R;ENSP00000399429:G44R	ENSP00000349094:G40R	G	-	1	0	PGC	41820466	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.404000	0.07205	-0.392000	0.07751	-0.158000	0.13435	GGG	PGC	-	pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom	ENSG00000096088		0.537	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	HGNC	protein_coding	OTTHUMT00000040521.2	-	0	28	0	C			41712488	-1	tier1	-	no_errors	ENST00000373025	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.000	T	T	41712488	C	T	41712488	3	4	45	1	0	0	0	0	1	0	0	0	11824	623	22	3	1389	3	PGC	6	41712488	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	4465184	41712488	129402579	105	10943											
CENPQ	55166	genome.wustl.edu	37	chr6	49439801	49439801	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaagcacactaacctaaaAcacggaaagacagcagccag	20	2	7	12	1	0	1	0	0	0	1	0	2	0	2	2	1	5	2	2	1	5	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:49439801A>T	ENST00000335783.3	+	4	277	c.183A>T	c.(181-183)aaA>aaT	p.K61N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	61					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					CTAACCTAAAACACGGAAAGA	0.383																																																	0													120	123	122					6																	49439801		2203	4300	6503	SO:0001583	missense	0			AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"chromosome 6 open reading frame 139"	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.183A>T	6.37:g.49439801A>T	ENSP00000337289:p.Lys61Asn		A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	NULL	p.K61N	ENST00000335783.3	37	c.183	CCDS4925.1	6	.	.	.	.	.	.	.	.	.	.	A	14.30	2.494184	0.44352	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.38560	1.13	5.0	2.62	0.31277	.	0.382752	0.28166	N	0.016351	T	0.42200	0.1192	M	0.70275	2.135	0.35609	D	0.808525	D	0.54047	0.964	P	0.59643	0.861	T	0.46721	-0.9171	10	0.87932	D	0	-21.828	7.2915	0.26368	0.823:0.0:0.177:0.0	.	61	Q7L2Z9	CENPQ_HUMAN	N	61	ENSP00000337289:K61N	ENSP00000337289:K61N	K	+	3	2	CENPQ	49547760	0.962000	0.33011	0.883000	0.34634	0.221000	0.24807	1.794000	0.38774	0.484000	0.27630	0.472000	0.43445	AAA	CENPQ	-	NULL	ENSG00000031691		0.383	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPQ	HGNC	protein_coding	OTTHUMT00000040855.2	-	0	8	0	A	NM_018132		49439801	1	tier1	-	no_errors	ENST00000335783	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.958	T	T	49439801	A	T	49439801	3	4	45	1	0	0	0	0	1	0	0	0	3248	40	2	5	193	5	CENPQ	6	49439801	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	7727313	49439801	121675266	106	10944											
COL21A1	81578	genome.wustl.edu	37	chr6	56035613	56035613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttgactttaaatcttTgagtagacacaaatacatat	14	17	4	6	0	2	3	0	2	2	1	2	3	2	3	0	0	1	1	0	0	6	9			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:56035613T>C	ENST00000244728.5	-	5	1257	c.860A>G	c.(859-861)cAa>cGa	p.Q287R	COL21A1_ENST00000370819.1_Missense_Mutation_p.Q287R|COL21A1_ENST00000535941.1_Missense_Mutation_p.Q287R	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	287	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTAAATCTTTGAGTAGACAC	0.343																																																	0													65	57	60					6																	56035613		1818	4072	5890	SO:0001583	missense	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.860A>G	6.37:g.56035613T>C	ENSP00000244728:p.Gln287Arg		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.Q287R	ENST00000244728.5	37	c.860	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261124	0.39995	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	T;T;T	0.13420	2.59;2.59;2.59	4.66	3.47	0.39725	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.133858	0.33477	N	0.004872	T	0.14141	0.0342	L	0.57536	1.79	0.80722	D	1	D;D	0.62365	0.991;0.971	P;P	0.56751	0.805;0.491	T	0.01172	-1.1429	10	0.66056	D	0.02	.	8.8453	0.35166	0.2999:0.0:0.0:0.7001	.	287;287	Q96P44-3;Q96P44	.;COLA1_HUMAN	R	287	ENSP00000244728:Q287R;ENSP00000359855:Q287R;ENSP00000444384:Q287R	ENSP00000244728:Q287R	Q	-	2	0	COL21A1	56143572	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.832000	0.55783	0.611000	0.30052	0.482000	0.46254	CAA	COL21A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000124749		0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2		0	9	0	T			56035613	-1			no_errors	ENST00000244728	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	C	C	56035613	T	C	56035613	3	2	45	1	0	0	0	0	1	0	0	0	3687	1812	63	4	2117	4	COL21A1	6	56035613	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	6595812	56035613	115079454	107	10945											
SPACA1	81833	genome.wustl.edu	37	chr6	88757798	88757798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacgacagcgagaccGcggagaactacgctccgcct	14	3	10	14	6	0	2	0	0	0	2	1	5	1	2	3	1	5	1	3	1	5	1	rs145474393		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:88757798G>A	ENST00000237201.1	+	1	292	c.175G>A	c.(175-177)Gcg>Acg	p.A59T		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	59					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CAGCGAGACCGCGGAGAACTA	0.682																																																	0								G	THR/ALA	1,4393		0,1,2196	57	38	44		175	-0.5	0	6	dbSNP_134	44	0,8584		0,0,4292	no	missense	SPACA1	NM_030960.2	58	0,1,6488	AA,AG,GG		0.0,0.0228,0.0077	benign	59/295	88757798	1,12977	2197	4292	6489	SO:0001583	missense	0			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.175G>A	6.37:g.88757798G>A	ENSP00000237201:p.Ala59Thr			Missense_Mutation	SNP	NULL	p.A59T	ENST00000237201.1	37	c.175	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	G	4.738	0.137152	0.09032	2.28E-4	0.0	ENSG00000118434	ENST00000237201	T	0.23147	1.92	1.74	-0.464	0.12160	.	2.884380	0.01460	N	0.015851	T	0.02533	0.0077	N	0.03608	-0.345	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.23619	-1.0183	10	0.12430	T	0.62	5.1214	3.8251	0.08851	0.0:0.2696:0.4566:0.2738	.	59	Q9HBV2	SACA1_HUMAN	T	59	ENSP00000237201:A59T	ENSP00000237201:A59T	A	+	1	0	SPACA1	88814517	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.292000	0.02772	-0.144000	0.11314	0.462000	0.41574	GCG	SPACA1	-	NULL	ENSG00000118434		0.682	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	HGNC	protein_coding	OTTHUMT00000041459.1	-	0	8	0	G			88757798	1	tier1	rs145474393	no_errors	ENST00000237201	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.000	A	A	88757798	G	A	88757798	3	1	45	1	0	0	0	0	1	0	0	0	15017	1087	38	1	177	1	SPACA1	6	88757798	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	32722185	88757798	82357269	108	10946											
C6orf167	253714	genome.wustl.edu	37	chr6	97609916	97609916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaccaagcattttaaaatgCcagggaggagtagttcaact	15	9	9	8	0	1	0	1	0	0	0	1	2	1	2	2	2	3	3	2	2	5	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:97609916C>G	ENST00000275053.4	-	22	3612	c.3347G>C	c.(3346-3348)gGc>gCc	p.G1116A	MMS22L_ENST00000369251.2_Missense_Mutation_p.G1076A	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1116					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTTAAAATGCCAGGGAGGAG	0.388																																																	0													106	103	104					6																	97609916		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3347G>C	6.37:g.97609916C>G	ENSP00000275053:p.Gly1116Ala		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1116A	ENST00000275053.4	37	c.3347	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	2.713	-0.268387	0.05716	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.27720	1.65;1.65	5.87	3.97	0.46021	.	0.277047	0.39909	N	0.001240	T	0.06826	0.0174	L	0.27053	0.805	0.09310	N	1	B;B	0.18310	0.027;0.013	B;B	0.16289	0.015;0.007	T	0.34551	-0.9824	10	0.02654	T	1	-15.3771	15.0462	0.71830	0.0:0.499:0.501:0.0	.	1076;1116	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	A	1116;1076	ENSP00000275053:G1116A;ENSP00000358254:G1076A	ENSP00000275053:G1116A	G	-	2	0	MMS22L	97716637	0.029000	0.19370	0.771000	0.31576	0.962000	0.63368	1.082000	0.30803	1.470000	0.48102	0.650000	0.86243	GGC	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.388	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3		0	13	0	C	NM_198468		97609916	-1			no_errors	ENST00000275053	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.117	G	G	97609916	C	G	97609916	3	3	45	1	0	0	0	0	1	0	0	0	2349	739	26	5	400	5	C6orf167	6	97609916	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	8852118	97609916	73505151	109	10947											
TAAR5	9038	genome.wustl.edu	37	chr6	132910410	132910410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttggagggatagagcaggGggtcacagatggcacagtgg	11	6	18	6	0	1	2	1	0	0	2	1	4	1	4	0	6	1	2	0	6	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:132910410G>A	ENST00000258034.2	-	1	467	c.416C>T	c.(415-417)cCc>cTc	p.P139L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	139					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATAGAGCAGGGGGTCACAGAT	0.562																																																	0													97	103	101					6																	132910410		2203	4300	6503	SO:0001583	missense	0			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"GPCR / Class A : Trace amine associated receptors"	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.416C>T	6.37:g.132910410G>A	ENSP00000258034:p.Pro139Leu		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.P139L	ENST00000258034.2	37	c.416	CCDS5156.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379364	0.82682	.	.	ENSG00000135569	ENST00000258034	T	0.61274	0.12	5.58	5.58	0.84498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	D	0.86239	0.5885	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91045	0.4874	10	0.72032	D	0.01	-19.3237	19.769	0.96353	0.0:0.0:1.0:0.0	.	139	O14804	TAAR5_HUMAN	L	139	ENSP00000258034:P139L	ENSP00000258034:P139L	P	-	2	0	TAAR5	132952103	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.665000	0.83852	2.906000	0.99361	0.655000	0.94253	CCC	TAAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000135569		0.562	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR5	HGNC	protein_coding	OTTHUMT00000042257.1	-	0	13	0	G	NM_003967		132910410	-1	tier1	-	no_errors	ENST00000258034	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	A	A	132910410	G	A	132910410	3	1	45	1	0	0	0	0	1	0	0	0	15538	1232	43	3	601	3	TAAR5	6	132910410	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	35300494	132910410	38204657	110	10948											
HBS1L	10767	genome.wustl.edu	37	chr6	135303637	135303637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggaggcattgccagtagtCggtcaccagtttggatataa	11	11	12	7	1	1	0	1	0	0	0	2	2	1	2	2	4	1	3	2	4	4	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:135303637C>T	ENST00000367837.5	-	13	1762	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	HBS1L_ENST00000367824.4_Missense_Mutation_p.R355Q|HBS1L_ENST00000367826.2_Missense_Mutation_p.R477Q|HBS1L_ENST00000527578.1_Missense_Mutation_p.R355Q|HBS1L_ENST00000415177.2_Missense_Mutation_p.R454Q|HBS1L_ENST00000445176.2_Missense_Mutation_p.R243Q	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	519					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TGCCAGTAGTCGGTCACCAGT	0.378																																																	0													121	113	116					6																	135303637		2203	4300	6503	SO:0001583	missense	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"eRF3 family member"	612450	"HBS1 (S. cerevisiae)-like", "HBS1-like (S. cerevisiae)"			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1556G>A	6.37:g.135303637C>T	ENSP00000356811:p.Arg519Gln		B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Missense_Mutation	SNP	pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom	p.R519Q	ENST00000367837.5	37	c.1556	CCDS5173.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.351304|5.351304	0.95830|0.95830	.|.	.|.	ENSG00000112339|ENSG00000112339	ENST00000529169|ENST00000367837;ENST00000527578;ENST00000415177;ENST00000367826;ENST00000367824;ENST00000533274;ENST00000445176	.|T;T;T;T;T;T;T	.|0.62788	.|-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.|0.052967	.|0.85682	.|D	.|0.000000	T|T	0.45034|0.45034	0.1322|0.1322	N|N	0.02973|0.02973	-0.45|-0.45	0.52501|0.52501	D|D	0.999951|0.999951	.|D;D	.|0.69078	.|0.997;0.996	.|P;P	.|0.56563	.|0.7;0.801	T|T	0.58211|0.58211	-0.7676|-0.7676	5|10	.|0.36615	.|T	.|0.2	-9.1136|-9.1136	19.9601|19.9601	0.97247|0.97247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs35375007|rs35375007	.|477;519	.|Q9Y450-4;Q9Y450	.|.;HBS1L_HUMAN	N|Q	143|519;355;454;477;355;389;243	.|ENSP00000356811:R519Q;ENSP00000436256:R355Q;ENSP00000389826:R454Q;ENSP00000356800:R477Q;ENSP00000356798:R355Q;ENSP00000434533:R389Q;ENSP00000415305:R243Q	.|ENSP00000356798:R355Q	D|R	-|-	1|2	0|0	HBS1L|HBS1L	135345330|135345330	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	3.817000|3.817000	0.55668|0.55668	2.720000|2.720000	0.93068|0.93068	0.655000|0.655000	0.94253|0.94253	GAC|CGA	HBS1L	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000112339		0.378	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	-	0	15	0	C			135303637	-1	tier1	-	no_errors	ENST00000367837	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	T	T	135303637	C	T	135303637	3	4	45	1	0	0	0	0	1	0	0	0	7014	884	31	1	522	1	HBS1L	6	135303637	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2393227	135303637	35811430	111	10949											
PERP	64065	genome.wustl.edu	37	chr6	138417551	138417551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatctggggtccacagaGggcgaagaaggagaggatga	14	4	17	6	1	1	4	0	1	1	3	2	7	2	5	1	5	1	1	1	5	3	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:138417551G>A	ENST00000421351.3	-	2	465	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	99					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		GGTCCACAGAGGGCGAAGAAG	0.502																																																	0													75	70	72					6																	138417551		2203	4300	6503	SO:0001583	missense	0			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.295C>T	6.37:g.138417551G>A	ENSP00000397157:p.Leu99Phe		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.L99F	ENST00000421351.3	37	c.295	CCDS5188.1	6	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941109	0.53079	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.90444	-2.67	5.5	5.5	0.81552	.	0.191405	0.47093	D	0.000259	T	0.81564	0.4849	L	0.37850	1.14	0.58432	D	0.999999	P	0.38617	0.64	B	0.41510	0.359	T	0.79505	-0.1776	10	0.22706	T	0.39	-48.1711	12.2937	0.54833	0.0778:0.0:0.9222:0.0	.	99	Q96FX8	PERP_HUMAN	F	99;81	ENSP00000397157:L99F	ENSP00000265603:L81F	L	-	1	0	PERP	138459244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.676000	0.61627	2.758000	0.94735	0.561000	0.74099	CTC	PERP	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000112378		0.502	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PERP	HGNC	protein_coding	OTTHUMT00000042423.2		0	12	0	G	NM_022121		138417551	-1			no_errors	ENST00000421351	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	138417551	G	A	138417551	3	1	45	1	0	0	0	0	1	0	0	0	11771	1000	35	3	294	3	PERP	6	138417551	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3113914	138417551	32697516	112	10950											
STXBP5	134957	genome.wustl.edu	37	chr6	147525742	147525742	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcgtcgcagcagcaacAgcagcagcatccgcctggga	9	4	13	15	4	0	0	0	0	0	0	3	1	1	1	2	2	6	6	2	2	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:147525742A>T	ENST00000321680.6	+	1	74	c.74A>T	c.(73-75)cAg>cTg	p.Q25L	STXBP5_ENST00000546097.1_Missense_Mutation_p.Q25L|STXBP5_ENST00000367481.3_Missense_Mutation_p.Q25L|STXBP5-AS1_ENST00000367477.3_RNA|STXBP5-AS1_ENST00000427394.1_RNA|STXBP5_ENST00000367480.3_Missense_Mutation_p.Q25L|STXBP5-AS1_ENST00000417502.1_RNA|STXBP5_ENST00000179882.6_5'Flank	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	25	Poly-Gln.				exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CAGCAGCAACAGCAGCAGCAT	0.667																																																	0													28	33	31					6																	147525742		2202	4297	6499	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.74A>T	6.37:g.147525742A>T	ENSP00000321826:p.Gln25Leu		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.Q25L	ENST00000321680.6	37	c.74	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	A	16.97	3.268997	0.59540	.	.	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;D;T;T	0.85484	2.65;-1.99;2.65;2.76	4.24	1.74	0.24563	.	0.789683	0.11568	N	0.551105	T	0.69278	0.3093	M	0.67953	2.075	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.003;0.002	T	0.60707	-0.7210	10	0.30078	T	0.28	.	6.6664	0.23042	0.5753:0.2863:0.0:0.1384	.	25;25	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	L	25	ENSP00000356451:Q25L;ENSP00000441479:Q25L;ENSP00000321826:Q25L;ENSP00000356450:Q25L	ENSP00000321826:Q25L	Q	+	2	0	STXBP5	147567435	1.000000	0.71417	0.997000	0.53966	0.920000	0.55202	0.899000	0.28417	0.063000	0.16370	0.482000	0.46254	CAG	STXBP5	-	NULL	ENSG00000164506		0.667	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0	43	0	A			147525742	1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	43.52	60	47	SNP	1.000	T	T	147525742	A	T	147525742	3	4	45	1	0	0	0	0	1	0	0	0	15403	188	7	5	76	5	STXBP5	6	147525742	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	9108191	147525742	23589325	113	10951											
PPP1R14C	81706	genome.wustl.edu	37	chr6	150569882	150569882	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcttctgatctcttttagGaatttatcaaagagctgctt	9	18	6	8	0	4	2	1	1	3	1	5	3	4	3	0	1	2	2	0	1	4	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:150569882G>T	ENST00000361131.4	+	4	541	c.424G>T	c.(424-426)Gaa>Taa	p.E142*		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	142					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TCTCTTTTAGGAATTTATCAA	0.383																																					Melanoma(165;1879 1941 2052 16588 48349)												0													59	61	60					6																	150569882		2203	4300	6503	SO:0001630	splice_region_variant	0			AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.424-1G>T	6.37:g.150569882G>T			Q5VY83|Q96BB1|Q9H277	Nonsense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.E142*	ENST00000361131.4	37	c.424	CCDS5226.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.188542	0.94923	.	.	ENSG00000198729	ENST00000361131	.	.	.	5.62	5.62	0.85841	.	0.205916	0.49916	D	0.000122	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.8452	19.6613	0.95875	0.0:0.0:1.0:0.0	.	.	.	.	X	142	.	.	E	+	1	0	PPP1R14C	150611575	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.986000	0.76200	2.639000	0.89480	0.650000	0.86243	GAA	PPP1R14C	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	ENSG00000198729		0.383	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14C	HGNC	protein_coding	OTTHUMT00000042685.1		0	23	0	G	NM_030949	Nonsense_Mutation	150569882	1			no_errors	ENST00000361131	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	T	T	150569882	G	T	150569882	5	4	45	1	0	0	0	0	0	0	1	0	12403	1188	41	3	438	3	PPP1R14C	6	150569882	Splice_Site	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3044140	150569882	20545185	114	10952											
SYNE1	23345	genome.wustl.edu	37	chr6	152765617	152765617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttctcagcttgttcctGgacttctttagagccagaaa	9	14	8	10	0	3	2	1	0	3	2	5	4	4	3	2	1	2	2	2	1	2	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:152765617G>T	ENST00000367255.5	-	30	4367	c.3766C>A	c.(3766-3768)Cag>Aag	p.Q1256K	SYNE1_ENST00000413186.2_Missense_Mutation_p.Q1256K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q1322K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q1263K|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q1246K|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q1256K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q1263K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q1256K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1256					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTGTTCCTGGACTTCTTTA	0.373										HNSCC(10;0.0054)																																							0													114	113	113					6																	152765617		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3766C>A	6.37:g.152765617G>T	ENSP00000356224:p.Gln1256Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q1256K	ENST00000367255.5	37	c.3766	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670702	0.47781	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87491	0.75;0.74;0.66;0.74;0.82;-2.1;-2.26;-2.25	5.96	4.1	0.47936	.	0.104115	0.42821	N	0.000655	T	0.63757	0.2538	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.18863	0.002;0.003;0.005;0.031;0.003;0.005	B;B;B;B;B;B	0.24974	0.003;0.006;0.008;0.057;0.006;0.014	T	0.60073	-0.7334	10	0.06494	T	0.89	.	15.1405	0.72607	0.0:0.0:0.7508:0.2492	.	1239;1256;1246;1256;1256;1263	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	K	1256;1263;1256;1263;1322;1256;1246;1256	ENSP00000356224:Q1256K;ENSP00000396024:Q1263K;ENSP00000265368:Q1256K;ENSP00000390975:Q1263K;ENSP00000341887:Q1322K;ENSP00000356222:Q1256K;ENSP00000356217:Q1246K;ENSP00000414510:Q1256K	ENSP00000265368:Q1256K	Q	-	1	0	SYNE1	152807310	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	4.151000	0.58105	0.772000	0.33382	0.655000	0.94253	CAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	14	0	G	NM_182961		152765617	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.993	T	T	152765617	G	T	152765617	3	4	45	1	0	0	0	0	1	0	0	0	15492	1357	47	3	23168	3	SYNE1	6	152765617	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2195735	152765617	18349450	115	10953											
AGPAT4	56895	genome.wustl.edu	37	chr6	161653235	161653235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagacttcagcagtcccGcgaggtccatgatgcgtgga	9	8	13	11	3	1	2	1	2	0	1	3	5	3	3	2	2	2	1	2	2	0	1	rs115239818	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr6:161653235G>A	ENST00000320285.4	-	2	223	c.11C>T	c.(10-12)gCg>gTg	p.A4V	AGPAT4_ENST00000366905.3_Missense_Mutation_p.A4V|AGPAT4_ENST00000366908.5_Missense_Mutation_p.A4V|AGPAT4_ENST00000366906.5_Intron|AGPAT4_ENST00000366911.5_Missense_Mutation_p.A4V|AGPAT4_ENST00000457520.2_Missense_Mutation_p.A4V	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	4					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGCAGTCCCGCGAGGTCCAT	0.488													G|||	15	0.00299521	0.0098	0	5008	,	,		17256	0		0	False		,,,				2504	0.002																0								G	VAL/ALA	16,4390	23.3+/-48.9	0,16,2187	115	97	103		11	-5.1	0	6	dbSNP_132	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AGPAT4	NM_020133.2	64	0,18,6485	AA,AG,GG		0.0233,0.3631,0.1384	benign	4/379	161653235	18,12988	2203	4300	6503	SO:0001583	missense	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	20885	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, delta"	614795	"1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.11C>T	6.37:g.161653235G>A	ENSP00000314036:p.Ala4Val		B4DSF9|Q5TEF0	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.A4V	ENST00000320285.4	37	c.11	CCDS5280.1	6	11	0.005036630036630037	11	0.022357723577235773	0	0.0	0	0.0	0	0.0	G	0.013	-1.616531	0.00828	0.003631	2.33E-4	ENSG00000026652	ENST00000366911;ENST00000320285;ENST00000457520;ENST00000366908;ENST00000366905	T	0.28666	1.6	5.38	-5.06	0.02946	.	1.552850	0.03632	N	0.238051	T	0.03011	0.0089	N	0.00926	-1.1	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.25398	-1.0133	10	0.16420	T	0.52	-2.1322	14.9327	0.70929	0.4856:0.0:0.5144:0.0	.	4;4;4;4	B4DIY1;B4DHC0;B4DSF9;Q9NRZ5	.;.;.;PLCD_HUMAN	V	4	ENSP00000314036:A4V	ENSP00000314036:A4V	A	-	2	0	AGPAT4	161573225	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-0.124000	0.10595	-1.285000	0.02387	-1.952000	0.00485	GCG	AGPAT4	-	NULL	ENSG00000026652		0.488	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1		0	10	0	G	NM_020133		161653235	-1			no_errors	ENST00000320285	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.001	A	A	161653235	G	A	161653235	3	1	45	1	0	0	0	0	1	0	0	0	389	1087	38	1	1157	1	AGPAT4	6	161653235	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	8887618	161653235	9461832	116	10954											
PPIA	5478	genome.wustl.edu	37	chr7	44839010	44839010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaattttcgtgctctgagCactggagagaaaggatttgg	12	11	13	5	1	1	2	0	1	1	1	2	6	1	4	0	3	2	2	0	3	3	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:44839010C>T	ENST00000468812.1	+	3	165	c.120C>T	c.(118-120)agC>agT	p.S40S	PPIA_ENST00000451562.1_Silent_p.S40S|PPIA_ENST00000489459.1_5'UTR|PPIA_ENST00000355968.6_5'UTR|PPIA_ENST00000480603.1_3'UTR	NM_021130.3	NP_066953.1	P62937	PPIA_HUMAN	peptidylprolyl isomerase A (cyclophilin A)	40	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				blood coagulation (GO:0007596)|entry into host cell (GO:0030260)|establishment of integrated proviral latency (GO:0075713)|leukocyte migration (GO:0050900)|lipid particle organization (GO:0034389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of viral genome replication (GO:0045069)|RNA-dependent DNA replication (GO:0006278)|uncoating of virus (GO:0019061)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral release from host cell (GO:0019076)|virion assembly (GO:0019068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Cyclosporine(DB00091)|L-Proline(DB00172)	GTGCTCTGAGCACTGGAGAGA	0.303																																					Pancreas(95;605 727 734 1731 12572 23104 24406 38694 39103 44805)												0													85	104	98					7																	44839010		1407	2678	4085	SO:0001819	synonymous_variant	0			X52851	CCDS5494.1, CCDS75592.1	7p13	2010-03-23			ENSG00000196262	ENSG00000196262	5.2.1.8		9253	protein-coding gene	gene with protein product		123840				1989998, 2197089	Standard	XM_005249791		Approved	CYPA	uc003tlw.3	P62937	OTTHUMG00000023687	ENST00000468812.1:c.120C>T	7.37:g.44839010C>T			A8K220|P05092|Q3KQW3|Q567Q0|Q6IBU5|Q96IX3|Q9BRU4|Q9BTY9|Q9UC61	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.S40	ENST00000468812.1	37	c.120	CCDS5494.1	7																																																																																			PPIA	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000196262		0.303	PPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIA	HGNC	protein_coding	OTTHUMT00000251293.1		0	16	0	C	NM_021130		44839010	1			no_errors	ENST00000468812	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T	T	44839010	C	T	44839010	2	4	45	1	0	0	0	0	0	0	0	1	12355	709	25	3		3	PPIA	7	44839010	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09		44839010	114299653	117	10955											
ZNF107	51427	genome.wustl.edu	37	chr7	64167088	64167088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaattcctacaaatgtgaaGaatgtggaaaagcctttaac	16	11	8	6	0	0	3	0	2	0	1	1	4	1	4	2	1	3	0	2	1	8	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:64167088G>A	ENST00000395391.1	+	4	1781	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	ZNF107_ENST00000423627.1_Missense_Mutation_p.E136K|ZNF107_ENST00000344930.3_Missense_Mutation_p.E136K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAAATGTGAAGAATGTGGAAA	0.353																																																	0													27	27	27					7																	64167088		2197	4296	6493	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.406G>A	7.37:g.64167088G>A	ENSP00000378789:p.Glu136Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E136K	ENST00000395391.1	37	c.406	CCDS5527.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.87|16.87	3.242315|3.242315	0.58995|0.58995	.|.	.|.	ENSG00000196247|ENSG00000196247	ENST00000541526|ENST00000344930;ENST00000423627;ENST00000395391	.|T;T;T	.|0.07327	.|3.2;3.2;3.2	1.18|1.18	1.18|1.18	0.20946|0.20946	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.05731	.|0.0150	N|N	0.17800|0.17800	0.525|0.525	0.09310|0.09310	N|N	1|1	.|P	.|0.35107	.|0.484	.|B	.|0.37267	.|0.245	.|T	.|0.43376	.|-0.9395	.|8	.|.	.|.	.|.	.|.	7.7422|7.7422	0.28848|0.28848	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|136	.|Q9UII5	.|ZN107_HUMAN	.|K	-1|136	.|ENSP00000343443:E136K;ENSP00000400037:E136K;ENSP00000378789:E136K	.|.	.|E	+|+	.|1	.|0	ZNF107|ZNF107	63804523|63804523	0.000000|0.000000	0.05858|0.05858	0.549000|0.549000	0.28204|0.28204	0.811000|0.811000	0.45836|0.45836	-0.083000|-0.083000	0.11286|0.11286	0.567000|0.567000	0.29293|0.29293	0.174000|0.174000	0.16983|0.16983	.|GAA	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.353	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1		0	11	0	G	NM_016220		64167088	1			no_errors	ENST00000344930	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.017	A	A	64167088	G	A	64167088	3	1	45	1	0	0	0	0	1	0	0	0	17763	943	33	3	412	3	ZNF107	7	64167088	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	19328078	64167088	94971575	118	10956											
STAG3L4	64940	genome.wustl.edu	37	chr7	66773930	66773930	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccttttgtaggactcgggGgactatcctctgacagctcc	7	12	10	12	1	1	1	0	1	1	0	5	3	4	3	3	3	1	2	3	3	2	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:66773930G>A	ENST00000416602.2	+	0	371					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGGACTCGGGGGACTATCCTC	0.483																																																	0													90	91	91					7																	66773930		2203	4300	6503			0					7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"stromal antigen 3-like 4"				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66773930G>A			Q9H8W0	RNA	SNP	-	NULL	ENST00000416602.2	37	NULL		7																																																																																			STAG3L4	-	-	ENSG00000106610		0.483	STAG3L4-001	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346611.1	-	0	16	0	G	NM_022906		66773930	1	tier1	-	no_errors	ENST00000416602	ensembl	human	known	74_37	rna	19.23	42	10	SNP	0.996	A	A	66773930	G	A	66773930	1	1	45	0	1	0	0	0	0	0	0	0	15294	1219	43	3		3	STAG3L4	7	66773930	RNA	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2606842	66773930	92364733	119	10957											
AUTS2	26053	genome.wustl.edu	37	chr7	70254831	70254831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccactgaacagatcCgggctcatctgaacactgag	11	7	10	13	1	2	4	1	3	1	1	4	4	4	4	2	1	3	3	2	1	2	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:70254831C>T	ENST00000342771.4	+	19	2950	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	AUTS2_ENST00000406775.2_Missense_Mutation_p.R853W	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	877										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TGAACAGATCCGGGCTCATCT	0.602																																																	0													63	63	63					7																	70254831		2203	4300	6503	SO:0001583	missense	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2629C>T	7.37:g.70254831C>T	ENSP00000344087:p.Arg877Trp		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.R877W	ENST00000342771.4	37	c.2629	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892354	0.52121	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	T;T	0.37411	1.21;1.2	5.07	1.19	0.21007	.	0.044302	0.85682	D	0.000000	T	0.52725	0.1752	L	0.58510	1.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.45731	-0.9241	9	.	.	.	-21.8048	13.8688	0.63605	0.4588:0.5412:0.0:0.0	.	329;853;877	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	W	853;877;157	ENSP00000385263:R853W;ENSP00000344087:R877W	.	R	+	1	2	AUTS2	69892767	0.999000	0.42202	0.991000	0.47740	0.893000	0.52053	0.948000	0.29096	-0.033000	0.13736	-0.262000	0.10625	CGG	AUTS2	-	NULL	ENSG00000158321		0.602	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0	16	0	C			70254831	1	tier1	-	no_errors	ENST00000342771	ensembl	human	known	74_37	missense	20.83	56	15	SNP	0.987	T	T	70254831	C	T	70254831	3	4	45	1	0	0	0	0	1	0	0	0	1226	643	23	1	2848	1	AUTS2	7	70254831	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	3480901	70254831	88883832	120	10958											
MLXIPL	51085	genome.wustl.edu	37	chr7	73008695	73008695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccgtggacaccatcccGttgaaggactcaaacagagg	11	7	11	12	2	1	2	1	1	0	1	2	4	2	4	3	3	2	1	3	3	2	2	rs185020196		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:73008695G>T	ENST00000313375.3	-	16	2396	c.2349C>A	c.(2347-2349)aaC>aaA	p.N783K	MLXIPL_ENST00000354613.1_Missense_Mutation_p.N762K|MLXIPL_ENST00000395189.1_Missense_Mutation_p.N690K|MLXIPL_ENST00000414749.2_Missense_Mutation_p.N781K|MLXIPL_ENST00000434326.1_Missense_Mutation_p.N689K|MLXIPL_ENST00000429400.2_Missense_Mutation_p.N764K	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	783					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACACCATCCCGTTGAAGGACT	0.637																																																	0													75	68	70					7																	73008695		2203	4300	6503	SO:0001583	missense	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2349C>A	7.37:g.73008695G>T	ENSP00000320886:p.Asn783Lys		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N783K	ENST00000313375.3	37	c.2349	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	1.990	-0.432092	0.04669	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.25414	2.35;2.34;2.38;2.32;1.8;1.81	4.23	-3.65	0.04502	.	0.062756	0.64402	D	0.000012	T	0.28896	0.0717	L	0.45137	1.4	0.31241	N	0.695113	P;D;D;B;B	0.69078	0.797;0.997;0.996;0.355;0.355	B;P;P;B;B	0.60789	0.389;0.761;0.879;0.362;0.362	T	0.37079	-0.9721	10	0.13853	T	0.58	-18.2741	11.7915	0.52072	0.3239:0.0:0.6761:0.0	.	690;783;764;781;762	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	K	781;764;783;762;690;689	ENSP00000412330:N781K;ENSP00000406296:N764K;ENSP00000320886:N783K;ENSP00000346629:N762K;ENSP00000378616:N690K;ENSP00000392636:N689K	ENSP00000320886:N783K	N	-	3	2	MLXIPL	72646631	0.009000	0.17119	0.987000	0.45799	0.932000	0.56968	-0.772000	0.04694	-0.567000	0.06046	-0.367000	0.07326	AAC	MLXIPL	-	NULL	ENSG00000009950		0.637	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1		0	16	0	G	NM_032951		73008695	-1			no_errors	ENST00000313375	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.978	T	T	73008695	G	T	73008695	3	4	45	1	0	0	0	0	1	0	0	0	9675	1136	40	2	217	2	MLXIPL	7	73008695	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2753864	73008695	86129968	121	10959											
DTX2	113878	genome.wustl.edu	37	chr7	76111982	76111982	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggccaggggcaaccagctCgtggacttggcccccctggg	5	6	16	14	1	0	0	0	0	0	0	1	1	0	1	5	6	2	2	5	6	1	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:76111982C>T	ENST00000324432.5	+	5	936	c.426C>T	c.(424-426)ctC>ctT	p.L142L	DTX2_ENST00000430490.2_Silent_p.L142L|DTX2_ENST00000413936.2_Silent_p.L142L|DTX2_ENST00000307569.8_Silent_p.L142L|DTX2_ENST00000446820.2_Silent_p.L142L|DTX2_ENST00000446600.1_Silent_p.L51L	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	142	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCAACCAGCTCGTGGACTTGG	0.617																																																	0													49	42	44					7																	76111982		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.426C>T	7.37:g.76111982C>T			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.L142	ENST00000324432.5	37	c.426	CCDS5587.1	7																																																																																			DTX2	-	pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom	ENSG00000091073		0.617	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2		0	25	0	C			76111982	1			no_errors	ENST00000324432	ensembl	human	known	74_37	silent	7.61	85	7	SNP	0.027	T	T	76111982	C	T	76111982	2	4	45	1	0	0	0	0	0	0	0	1	4808	871	31	1		1	DTX2	7	76111982	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	3103287	76111982	83026681	122	10960											
GRM3	2913	genome.wustl.edu	37	chr7	86468292	86468292	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagttggtcactgggcaGaaaccttatcgctagatgtc	11	11	11	8	1	1	3	1	1	0	2	3	3	1	3	1	2	1	3	1	2	4	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:86468292G>T	ENST00000361669.2	+	4	2561	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	GRM3_ENST00000546348.1_Nonsense_Mutation_p.E80*|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Nonsense_Mutation_p.E360*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	488					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TCACTGGGCAGAAACCTTATC	0.468																																					GBM(52;969 1098 3139 52280)												0													85	77	80					7																	86468292		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1462G>T	7.37:g.86468292G>T	ENSP00000355316:p.Glu488*		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.E488*	ENST00000361669.2	37	c.1462	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.028427	0.97216	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	.	.	.	X	488;80;360	.	ENSP00000355316:E488X	E	+	1	0	GRM3	86306228	1.000000	0.71417	0.999000	0.59377	0.698000	0.40448	7.876000	0.87215	2.793000	0.96121	0.655000	0.94253	GAA	GRM3	-	superfamily_Peripla_BP_I	ENSG00000198822		0.468	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2		0	20	0	G			86468292	1			no_errors	ENST00000361669	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	1.000	T	T	86468292	G	T	86468292	4	4	45	1	0	0	0	0	0	1	0	0	6825	943	33	3	1472	3	GRM3	7	86468292	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	10356310	86468292	72670371	123	10961											
LRWD1	222229	genome.wustl.edu	37	chr7	102109466	102109466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagcccacaagaaggccatCgccaccctgtgcttcagccc	9	5	9	18	2	1	1	1	0	0	1	2	2	1	1	5	1	3	1	5	1	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:102109466C>T	ENST00000292616.5	+	9	1337	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	MIR4467_ENST00000578629.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	395					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGAAGGCCATCGCCACCCTGT	0.692																																																	0													30	31	31					7																	102109466		2203	4300	6503	SO:0001819	synonymous_variant	0			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.1185C>T	7.37:g.102109466C>T			A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Silent	SNP	pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I395	ENST00000292616.5	37	c.1185	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	9.944	1.218194	0.22373	.	.	ENSG00000161036	ENST00000488689	.	.	.	4.71	-7.02	0.01589	.	.	.	.	.	T	0.46658	0.1404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49570	-0.8926	4	.	.	.	-19.5022	6.7438	0.23451	0.1019:0.1338:0.1011:0.6632	.	.	.	.	L	24	.	.	S	+	2	0	LRWD1	101896471	0.000000	0.05858	0.747000	0.31113	0.954000	0.61252	-2.725000	0.00808	-1.512000	0.01791	-0.658000	0.03865	TCG	LRWD1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000161036		0.692	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	HGNC	protein_coding	OTTHUMT00000349493.1	-	0	34	0	C	NM_152892		102109466	1	tier1	-	no_errors	ENST00000292616	ensembl	human	known	74_37	silent	22.22	70	20	SNP	0.143	T	T	102109466	C	T	102109466	2	4	45	1	0	0	0	0	0	0	0	1	9082	874	31	1		1	LRWD1	7	102109466	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	15641174	102109466	57029197	124	10962											
PNPLA8	50640	genome.wustl.edu	37	chr7	108128261	108128261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcctggagcagcagatgagGctctaatggcctgccacatt	10	8	12	11	0	1	2	0	1	1	1	1	3	1	3	3	3	4	3	3	3	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:108128261G>A	ENST00000422087.1	-	10	2226	c.1820C>T	c.(1819-1821)gCc>gTc	p.A607V	PNPLA8_ENST00000426128.2_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.A607V|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A607V|PNPLA8_ENST00000388728.5_Intron|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A507V	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	607	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGCAGATGAGGCTCTAATGGC	0.378																																																	0													75	72	73					7																	108128261		2203	4300	6503	SO:0001583	missense	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"Patatin-like phospholipase domain containing"	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1820C>T	7.37:g.108128261G>A	ENSP00000410804:p.Ala607Val		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.A607V	ENST00000422087.1	37	c.1820	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.763131	0.96906	.	.	ENSG00000135241	ENST00000257694;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	5.97	5.97	0.96955	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	M	0.92604	3.325	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.95501	0.8577	10	0.72032	D	0.01	.	20.4135	0.99023	0.0:0.0:1.0:0.0	.	607	Q9NP80	PLPL8_HUMAN	V	607;607;507;607;507	ENSP00000257694:A607V;ENSP00000410804:A607V;ENSP00000387789:A507V;ENSP00000406779:A607V;ENSP00000402274:A507V	ENSP00000257694:A607V	A	-	2	0	PNPLA8	107915497	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.835000	0.97688	0.591000	0.81541	GCC	PNPLA8	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000135241		0.378	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	-	0	12	0	G	NM_015723		108128261	-1	tier1	-	no_errors	ENST00000257694	ensembl	human	known	74_37	missense	19.67	49	12	SNP	1.000	A	A	108128261	G	A	108128261	3	1	45	1	0	0	0	0	1	0	0	0	12210	1203	42	3	540	3	PNPLA8	7	108128261	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	6018795	108128261	51010402	125	10963											
GPR85	54329	genome.wustl.edu	37	chr7	112724407	112724407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatagaagcggtgatgggCgatagctaaatatctggtga	12	11	14	4	2	1	3	0	2	1	1	1	4	1	3	0	3	2	2	0	3	7	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:112724407C>T	ENST00000297146.3	-	3	973	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	GPR85_ENST00000501255.2_Missense_Mutation_p.A124T|GPR85_ENST00000449591.1_Missense_Mutation_p.A124T|GPR85_ENST00000424100.1_Missense_Mutation_p.A124T|GPR85_ENST00000487573.1_5'Flank	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	124					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CGGTGATGGGCGATAGCTAAA	0.498																																																	0													75	76	76					7																	112724407		2203	4300	6503	SO:0001583	missense	0			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.370G>A	7.37:g.112724407C>T	ENSP00000297146:p.Ala124Thr		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A124T	ENST00000297146.3	37	c.370	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419218	0.83559	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.29908	0.895	0.80722	D	1	P	0.42518	0.782	B	0.41988	0.372	T	0.05209	-1.0899	10	0.02654	T	1	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	124	P60893	GPR85_HUMAN	T	124	ENSP00000445808:A124T;ENSP00000297146:A124T;ENSP00000396763:A124T;ENSP00000401178:A124T	ENSP00000297146:A124T	A	-	1	0	GPR85	112511643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.609000	0.88269	0.655000	0.94253	GCC	GPR85	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000164604		0.498	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	-	0	10	0	C			112724407	-1	tier1	-	no_errors	ENST00000297146	ensembl	human	known	74_37	missense	71.43	18	45	SNP	1.000	T	T	112724407	C	T	112724407	3	4	45	1	0	0	0	0	1	0	0	0	6741	768	27	1	746	1	GPR85	7	112724407	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	4596146	112724407	46414256	126	10964											
WNT16	51384	genome.wustl.edu	37	chr7	120971879	120971879	+	Frame_Shift_Del	DEL	G	G	-																															agcaagtgaaggctggcactGggggggctgctccgatgatg																										TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:120971879delG	ENST00000222462.2	+	3	784	c.494delG	c.(493-495)tggfs	p.W165fs	WNT16_ENST00000361301.2_Frame_Shift_Del_p.W155fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	165					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.C168fs*4(2)|p.G167fs*17(1)		breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GGCTGGCACTGGGGGGGCTGC	0.532																																																	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|large_intestine(1)											57	58	58					7																	120971879		2203	4300	6503	SO:0001589	frameshift_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.494delG	7.37:g.120971879delG	ENSP00000222462:p.Trp165fs		Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.G167fs	ENST00000222462.2	37	c.494	CCDS5781.1	7																																																																																			WNT16	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000002745		0.532	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1		0	23	0	G	NM_057168		120971879	1	tier1		no_errors	ENST00000222462	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	1.000	-	-	120971879	G	-	120971879	7	5	45	1	0	1	0	1	0	0	0	0	17434	1357	47	0	573	0	WNT16	7	120971879	Frame_Shift_Del	DEL	G	TCGA-JY-A93E-01A-11D-A37C-09	8247472	120971879	38166784	127	10965											
AASS	10157	genome.wustl.edu	37	chr7	121753716	121753716	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctattgttgtacactCagtcataaactctatagacc	12	14	5	10	0	4	1	2	0	2	1	4	1	4	1	1	0	3	3	1	0	6	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:121753716C>A	ENST00000393376.1	-	9	1197	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Nonsense_Mutation_p.E368*			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	368	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.E368*(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GTTGTACACTCAGTCATAAAC	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											145	123	130					7																	121753716		2203	4300	6503	SO:0001587	stop_gained	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1102G>T	7.37:g.121753716C>A	ENSP00000377040:p.Glu368*		O95462	Nonsense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E368*	ENST00000393376.1	37	c.1102	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.533277	0.97641	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	4.92	4.92	0.64577	.	0.143948	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-16.5948	18.6547	0.91448	0.0:1.0:0.0:0.0	.	.	.	.	X	368	.	ENSP00000351834:E368X	E	-	1	0	AASS	121540952	1.000000	0.71417	0.884000	0.34674	0.898000	0.52572	5.852000	0.69488	2.714000	0.92807	0.655000	0.94253	GAG	AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.383	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1		0	16	0	C	NM_005763		121753716	-1			no_errors	ENST00000393376	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	A	A	121753716	C	A	121753716	4	1	45	1	0	0	0	0	0	1	0	0	24	835	29	3	1738	3	AASS	7	121753716	Nonsense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	781837	121753716	37384947	128	10966											
IQUB	154865	genome.wustl.edu	37	chr7	123097500	123097500	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagaagaatgcagttccAgggggaccactccagggatt	12	7	14	8	0	0	2	0	0	0	2	2	4	2	4	3	4	1	3	3	4	3	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:123097500A>T	ENST00000466202.1	-	12	2704	c.2128T>A	c.(2128-2130)Tgg>Agg	p.W710R	IQUB_ENST00000324698.6_Missense_Mutation_p.W710R|RNU6-296P_ENST00000384608.1_RNA|RP11-332K15.1_ENST00000419832.1_RNA	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	710					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ATGCAGTTCCAGGGGGACCAC	0.443																																																	0													134	137	136					7																	123097500		2203	4300	6503	SO:0001583	missense	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2128T>A	7.37:g.123097500A>T	ENSP00000417769:p.Trp710Arg		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.W710R	ENST00000466202.1	37	c.2128	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527388	0.85706	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.34667	1.35;1.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71262	-0.4645	10	0.72032	D	0.01	.	16.1922	0.82000	1.0:0.0:0.0:0.0	.	710	Q8NA54	IQUB_HUMAN	R	710	ENSP00000417769:W710R;ENSP00000324882:W710R	ENSP00000324882:W710R	W	-	1	0	IQUB	122884736	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.585000	0.90802	2.223000	0.72356	0.519000	0.50382	TGG	IQUB	-	NULL	ENSG00000164675		0.443	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1		0	11	0	A	NM_178827		123097500	-1			no_errors	ENST00000324698	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	123097500	A	T	123097500	3	4	45	1	0	0	0	0	1	0	0	0	7847	188	7	5	255	5	IQUB	7	123097500	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	1343784	123097500	36041163	129	10967											
IMPDH1	3614	genome.wustl.edu	37	chr7	128034542	128034542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcgggccccgatatcCtggcagccgtgttggatgcc	5	8	15	13	3	0	0	0	0	0	0	1	2	1	1	5	4	3	3	5	4	1	2	rs139785999		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:128034542C>T	ENST00000480861.1	-	12	1469	c.1392G>A	c.(1390-1392)caG>caA	p.Q464Q	IMPDH1_ENST00000338791.6_Silent_p.Q554Q|IMPDH1_ENST00000348127.6_Silent_p.Q518Q|IMPDH1_ENST00000378717.4_Silent_p.Q485Q|IMPDH1_ENST00000470772.1_Silent_p.Q468Q|IMPDH1_ENST00000419067.2_Silent_p.Q521Q|IMPDH1_ENST00000496200.1_Silent_p.Q444Q|IMPDH1_ENST00000343214.4_Silent_p.Q444Q|IMPDH1_ENST00000354269.5_Silent_p.Q544Q	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						CCCCGATATCCTGGCAGCCGT	0.597																																																	0								C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	71	70	71		1662,1632,1407,1392,1332,1563,1554	4.3	1	7	dbSNP_134	71	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IMPDH1	NM_000883.3,NM_001102605.1,NM_001142573.1,NM_001142574.1,NM_001142575.1,NM_001142576.1,NM_183243.2	,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	554/600,544/590,469/515,464/510,444/490,521/567,518/564	128034542	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1392G>A	7.37:g.128034542C>T				Silent	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.Q554	ENST00000480861.1	37	c.1662	CCDS55161.1	7																																																																																			IMPDH1	-	pfam_IMP_DH_GMPRt,tigrfam_IMP_DH	ENSG00000106348		0.597	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	-	0	41	0	C	NM_000883		128034542	-1	tier1	rs139785999	no_errors	ENST00000338791	ensembl	human	known	74_37	silent	22.97	57	17	SNP	1.000	T	T	128034542	C	T	128034542	2	4	45	1	0	0	0	0	0	0	0	1	7753	680	24	3		3	IMPDH1	7	128034542	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	4937042	128034542	31104121	130	10968											
IMPDH1	3614	genome.wustl.edu	37	chr7	128036730	128036730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatcaatcaggttcttGgcctgggctgctgtcaccac	7	10	10	14	0	4	0	3	0	1	0	4	0	4	0	3	3	2	4	3	3	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:128036730G>A	ENST00000480861.1	-	9	992	c.915C>T	c.(913-915)gcC>gcT	p.A305A	IMPDH1_ENST00000338791.6_Silent_p.A395A|IMPDH1_ENST00000348127.6_Silent_p.A359A|IMPDH1_ENST00000378717.4_Silent_p.A326A|IMPDH1_ENST00000470772.1_Silent_p.A309A|IMPDH1_ENST00000419067.2_Silent_p.A362A|IMPDH1_ENST00000496200.1_Silent_p.A285A|IMPDH1_ENST00000343214.4_Silent_p.A285A|IMPDH1_ENST00000354269.5_Silent_p.A385A	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						TCAGGTTCTTGGCCTGGGCTG	0.637																																																	0													19	15	17					7																	128036730		2159	4242	6401	SO:0001819	synonymous_variant	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.915C>T	7.37:g.128036730G>A				Silent	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.A395	ENST00000480861.1	37	c.1185	CCDS55161.1	7																																																																																			IMPDH1	-	pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,tigrfam_IMP_DH	ENSG00000106348		0.637	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	-	0	22	0	G	NM_000883		128036730	-1	tier1	-	no_errors	ENST00000338791	ensembl	human	known	74_37	silent	13.33	51	8	SNP	1.000	A	A	128036730	G	A	128036730	2	1	45	1	0	0	0	0	0	0	0	1	7753	1335	47	3		3	IMPDH1	7	128036730	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2188	128036730	31101933	131	10969											
TSGA14	95681	genome.wustl.edu	37	chr7	130039882	130039882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcaaaagatcttactaGgatgatctgcaggcccttgc	12	10	10	9	0	3	2	1	1	2	1	3	3	3	3	1	3	3	1	1	3	5	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr7:130039882G>T	ENST00000223208.5	-	10	1241	c.971C>A	c.(970-972)cCt>cAt	p.P324H	CEP41_ENST00000343969.5_Intron|CEP41_ENST00000541543.1_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	324					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											GATCTTACTAGGATGATCTGC	0.368																																																	0													68	73	71					7																	130039882		2203	4300	6503	SO:0001583	missense	0			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"testis specific, 14"	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.971C>A	7.37:g.130039882G>T	ENSP00000223208:p.Pro324His		A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.P324H	ENST00000223208.5	37	c.971	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771564	0.31320	.	.	ENSG00000106477	ENST00000223208	D	0.88586	-2.4	5.64	4.76	0.60689	.	0.533610	0.22190	N	0.063397	D	0.86748	0.6007	L	0.56769	1.78	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	D	0.83558	0.0105	10	0.59425	D	0.04	-19.7328	13.184	0.59670	0.0773:0.0:0.9227:0.0	.	324	Q9BYV8	CEP41_HUMAN	H	324	ENSP00000223208:P324H	ENSP00000223208:P324H	P	-	2	0	TSGA14	129827118	1.000000	0.71417	0.504000	0.27639	0.669000	0.39330	2.097000	0.41748	1.375000	0.46248	0.655000	0.94253	CCT	CEP41	-	NULL	ENSG00000106477		0.368	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2		0	9	0	G	NM_018718		130039882	-1			no_errors	ENST00000223208	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.905	T	T	130039882	G	T	130039882	3	4	45	1	0	0	0	0	1	0	0	0	16668	1000	35	3	158	3	TSGA14	7	130039882	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2003152	130039882	29098781	132	10970											
DLGAP2	9228	genome.wustl.edu	37	chr8	1616580	1616580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctcggtgacggcgcaGagcagcaccgaatccaccca	10	5	11	15	4	1	3	0	2	1	1	3	4	2	3	3	2	2	3	3	2	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:1616580G>T	ENST00000421627.2	+	6	1790	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	631					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGGCGCAGAGCAGCACCG	0.602																																																	0													13	18	16					8																	1616580		2021	4170	6191	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1656G>T	8.37:g.1616580G>T	ENSP00000400258:p.Gln552His		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.Q552H	ENST00000421627.2	37	c.1656	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.332219|4.332219	0.81801|0.81801	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.22336|.	1.96|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.049948|.	0.85682|.	D|.	0.000000|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.84585|0.84585	2.705|2.705	0.42809|0.42809	D|D	0.993959|0.993959	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.91635|.	0.999;0.997|.	T|T	0.79897|0.79897	-0.1609|-0.1609	10|5	0.87932|.	D|.	0|.	-12.6975|-12.6975	12.7617|12.7617	0.57367|0.57367	0.0751:0.0:0.9249:0.0|0.0751:0.0:0.9249:0.0	.|.	631;631|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	H|I	597;552|569	ENSP00000400258:Q552H|.	ENSP00000348366:Q597H|.	Q|R	+|+	3|2	2|0	DLGAP2|DLGAP2	1603987|1603987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.338000|4.338000	0.59316|0.59316	2.594000|2.594000	0.87642|0.87642	0.655000|0.655000	0.94253|0.94253	CAG|AGA	DLGAP2	-	NULL	ENSG00000198010		0.602	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0	20	0	G	NM_004745		1616580	1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	26.53	72	26	SNP	1.000	T	T	1616580	G	T	1616580	3	4	45	1	0	0	0	0	1	0	0	0	4574	933	33	3	1674	3	DLGAP2	8	1616580	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		1616580	144747442	133	10971											
LPL	4023	genome.wustl.edu	37	chr8	19809439	19809439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggacaggatgtggccCggtttatcaactggatggag	8	10	17	6	1	1	0	1	0	0	0	1	4	1	4	1	7	1	1	1	7	2	2	rs376875031		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:19809439C>T	ENST00000311322.8	+	3	879	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	137					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.R137R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGATGTGGCCCGGTTTATCAA	0.522																																																	1	Substitution - coding silent(1)	lung(1)						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	84	78	80		409	2.1	0.9	8		80	0,8600		0,0,4300	no	missense	LPL	NM_000237.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	137/476	19809439	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.409C>T	8.37:g.19809439C>T	ENSP00000309757:p.Arg137Trp		B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase	p.R137W	ENST00000311322.8	37	c.409	CCDS6012.1	8	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271276	0.59649	2.27E-4	0.0	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.91631	-2.88;-2.88	5.91	2.12	0.27331	Lipase, N-terminal (1);	0.366777	0.34603	N	0.003839	D	0.93762	0.8006	M	0.73430	2.235	0.27471	N	0.952877	D	0.56746	0.977	P	0.56612	0.802	D	0.93965	0.7244	8	.	.	.	-6.7717	12.5697	0.56331	0.5927:0.4073:0.0:0.0	.	137	P06858	LIPL_HUMAN	W	61;137;61;123	ENSP00000428496:R61W;ENSP00000309757:R137W	.	R	+	1	2	LPL	19853719	0.000000	0.05858	0.901000	0.35422	0.743000	0.42351	0.510000	0.22723	0.130000	0.18549	-0.740000	0.03531	CGG	LPL	-	pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase,tigrfam_Lipo_Lipase	ENSG00000175445		0.522	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPL	HGNC	protein_coding	OTTHUMT00000089113.3	-	0	17	0	C			19809439	1	tier1	-	no_errors	ENST00000311322	ensembl	human	known	74_37	missense	45.10	28	23	SNP	0.185	T	T	19809439	C	T	19809439	3	4	45	1	0	0	0	0	1	0	0	0	8956	643	23	1	419	1	LPL	8	19809439	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	18192859	19809439	126554583	134	10972											
GFRA2	2675	genome.wustl.edu	37	chr8	21552006	21552006	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatgcttaactctttggaGttgttggccttcagcccctg	6	14	9	12	0	2	0	1	0	1	0	2	1	2	1	3	2	3	3	3	2	1	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:21552006G>A	ENST00000524240.1	-	8	1892	c.1242C>T	c.(1240-1242)aaC>aaT	p.N414N	GFRA2_ENST00000518077.1_Silent_p.N281N|GFRA2_ENST00000517328.1_Silent_p.N414N|GFRA2_ENST00000400782.4_Silent_p.N309N	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	414					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACTCTTTGGAGTTGTTGGCCT	0.607																																																	0													66	71	69					8																	21552006		2002	4172	6174	SO:0001819	synonymous_variant	0			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1242C>T	8.37:g.21552006G>A			E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.N414	ENST00000524240.1	37	c.1242	CCDS47816.1	8																																																																																			GFRA2	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_a2	ENSG00000168546		0.607	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	-	0	12	0	G	NM_001495		21552006	-1	tier1	-	no_errors	ENST00000517328	ensembl	human	known	74_37	silent	24.44	33	11	SNP	1.000	A	A	21552006	G	A	21552006	2	1	45	1	0	0	0	0	0	0	0	1	6374	1020	36	3		3	GFRA2	8	21552006	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1742567	21552006	124812016	135	10973											
UNC5D	137970	genome.wustl.edu	37	chr8	35608203	35608203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggacctatgcgctcactgGagagccaatcacagactgtg	10	8	12	11	1	2	2	2	0	0	2	2	4	2	3	2	2	2	1	2	2	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:35608203G>A	ENST00000404895.2	+	13	2367	c.2039G>A	c.(2038-2040)gGa>gAa	p.G680E	UNC5D_ENST00000416672.1_Missense_Mutation_p.G685E|UNC5D_ENST00000449677.1_Missense_Mutation_p.G256E|UNC5D_ENST00000420357.1_Missense_Mutation_p.G613E|UNC5D_ENST00000453357.2_Missense_Mutation_p.G675E|UNC5D_ENST00000287272.2_Missense_Mutation_p.G611E	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	680					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCGCTCACTGGAGAGCCAATC	0.502																																																	0													253	210	225					8																	35608203		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2039G>A	8.37:g.35608203G>A	ENSP00000385143:p.Gly680Glu		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.G680E	ENST00000404895.2	37	c.2039	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	32	5.171098	0.94807	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.61980	0.08;0.47;0.44;0.09;0.06;1.9	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.84219	2.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.83565	0.0109	10	0.87932	D	0	-16.7184	20.2822	0.98520	0.0:0.0:1.0:0.0	.	256;675;680	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	E	680;613;611;685;675;256	ENSP00000385143:G680E;ENSP00000392739:G613E;ENSP00000287272:G611E;ENSP00000412652:G685E;ENSP00000394303:G675E;ENSP00000397211:G256E	ENSP00000287272:G611E	G	+	2	0	UNC5D	35727745	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	9.476000	0.97823	2.806000	0.96561	0.655000	0.94253	GGA	UNC5D	-	NULL	ENSG00000156687		0.502	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	32	0	G			35608203	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	25.37	50	17	SNP	1.000	A	A	35608203	G	A	35608203	3	1	45	1	0	0	0	0	1	0	0	0	17044	1174	41	3	2089	3	UNC5D	8	35608203	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	14056197	35608203	110755819	136	10974											
STMN2	11075	genome.wustl.edu	37	chr8	80567209	80567209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaacttcagcaagatggCggaggaaaagctgatcctga	15	6	11	9	1	1	3	1	2	0	1	2	5	2	5	1	3	4	2	1	3	5	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:80567209C>A	ENST00000220876.7	+	4	774	c.392C>A	c.(391-393)gCg>gAg	p.A131E	STMN2_ENST00000518491.1_Missense_Mutation_p.A120E|STMN2_ENST00000518111.1_Missense_Mutation_p.A131E	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	131	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			AGCAAGATGGCGGAGGAAAAG	0.468																																																	0													82	79	80					8																	80567209		1936	4131	6067	SO:0001583	missense	0				CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"stathmin-like 2"	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.392C>A	8.37:g.80567209C>A	ENSP00000220876:p.Ala131Glu		A8K9M2|G3V110|O14952|Q6PK68	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.A131E	ENST00000220876.7	37	c.392	CCDS43748.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.290377	0.95546	.	.	ENSG00000104435	ENST00000220876;ENST00000414622;ENST00000518111;ENST00000518491	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.85128	0.5626	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.86773	0.1974	9	0.87932	D	0	-4.2887	19.9928	0.97374	0.0:1.0:0.0:0.0	.	131	Q93045	STMN2_HUMAN	E	131;120;131;120	.	ENSP00000220876:A131E	A	+	2	0	STMN2	80729764	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.745000	0.94114	0.650000	0.86243	GCG	STMN2	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	ENSG00000104435		0.468	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN2	HGNC	protein_coding	OTTHUMT00000379261.2		0	12	0	C	NM_007029		80567209	1			no_errors	ENST00000220876	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	80567209	C	A	80567209	3	1	45	1	0	0	0	0	1	0	0	0	15356	768	27	2	406	2	STMN2	8	80567209	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	44959006	80567209	65796813	137	10975											
CNGB3	54714	genome.wustl.edu	37	chr8	87751944	87751944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttggttttgagagatttCtcttcacctttgttttcttc	5	21	7	8	0	3	2	1	1	2	1	5	4	3	2	1	1	0	2	1	1	0	9			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr8:87751944C>T	ENST00000320005.5	-	2	197	c.150G>A	c.(148-150)gaG>gaA	p.E50E	RP11-386D6.1_ENST00000519041.1_RNA|CNGB3_ENST00000519777.1_5'UTR	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	50					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGAGAGATTTCTCTTCACCTT	0.323																																																	0													170	146	154					8																	87751944		2203	4300	6503	SO:0001819	synonymous_variant	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.150G>A	8.37:g.87751944C>T			C9JA51|Q9NRE9	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E50	ENST00000320005.5	37	c.150	CCDS6244.1	8																																																																																			CNGB3	-	NULL	ENSG00000170289		0.323	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1		0	14	0	C	NM_019098		87751944	-1			no_errors	ENST00000320005	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.087	T	T	87751944	C	T	87751944	2	4	45	1	0	0	0	0	0	0	0	1	3608	912	32	3		3	CNGB3	8	87751944	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	7184735	87751944	58612078	138	10976											
C9orf131	138724	genome.wustl.edu	37	chr9	35045009	35045009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcaggctgaagaaactgCggcagagccctgcctccaga	12	5	11	13	1	1	4	1	1	0	3	2	4	2	4	3	2	5	2	3	2	3	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:35045009C>T	ENST00000312292.5	+	2	2430	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	C9orf131_ENST00000421362.2_Missense_Mutation_p.R747W|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.R722W	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	795										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAAGAAACTGCGGCAGAGCCC	0.572																																																	0													116	124	122					9																	35045009		2203	4300	6503	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2383C>T	9.37:g.35045009C>T	ENSP00000308279:p.Arg795Trp		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.R795W	ENST00000312292.5	37	c.2383	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407757	0.62399	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.16324	2.36;2.35;2.36	3.99	3.99	0.46301	.	0.659040	0.12903	N	0.429597	T	0.12518	0.0304	N	0.22421	0.69	0.09310	N	1	D;P;P;P	0.63880	0.993;0.825;0.825;0.825	B;B;B;B	0.40741	0.339;0.237;0.237;0.237	T	0.11446	-1.0587	10	0.66056	D	0.02	-0.3031	11.7844	0.52034	0.0:1.0:0.0:0.0	.	270;795;722;747	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	W	747;722;795;270	ENSP00000393683:R747W;ENSP00000346472:R722W;ENSP00000308279:R795W	ENSP00000308279:R795W	R	+	1	2	C9orf131	35035009	0.769000	0.28531	0.818000	0.32626	0.169000	0.22640	0.646000	0.24797	2.229000	0.72834	0.563000	0.77884	CGG	C9orf131	-	NULL	ENSG00000174038		0.572	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5		0	14	0	C	NM_203299		35045009	1			no_errors	ENST00000312292	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.382	T	T	35045009	C	T	35045009	3	4	45	1	0	0	0	0	1	0	0	0	2464	759	27	1	2405	1	C9orf131	9	35045009	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09		35045009	106168422	139	10977											
TLN1	7094	genome.wustl.edu	37	chr9	35711288	35711288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgactcttgaggttagggGcagcagggtccgtggacagg	7	8	18	8	1	1	2	0	2	1	0	2	3	2	3	1	6	1	4	1	6	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:35711288G>T	ENST00000314888.9	-	30	4336	c.3983C>A	c.(3982-3984)gCc>gAc	p.A1328D	TLN1_ENST00000540444.1_Missense_Mutation_p.A1328D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1328	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAGGTTAGGGGCAGCAGGGTC	0.577																																																	0													57	53	54					9																	35711288		2203	4300	6503	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3983C>A	9.37:g.35711288G>T	ENSP00000316029:p.Ala1328Asp		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.A1328D	ENST00000314888.9	37	c.3983	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848594	0.71603	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.14266	2.52;2.52	5.82	5.82	0.92795	Vinculin-binding site-containing domain (1);	0.404030	0.29830	N	0.011084	T	0.19087	0.0458	M	0.64567	1.98	0.47511	D	0.999445	B	0.14438	0.01	B	0.24974	0.057	T	0.14783	-1.0460	10	0.09843	T	0.71	-0.6176	20.093	0.97828	0.0:0.0:1.0:0.0	.	1328	Q9Y490	TLN1_HUMAN	D	1328	ENSP00000316029:A1328D;ENSP00000442981:A1328D	ENSP00000316029:A1328D	A	-	2	0	TLN1	35701288	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	9.842000	0.99487	2.756000	0.94617	0.561000	0.74099	GCC	TLN1	-	pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin	ENSG00000137076		0.577	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2		0	13	0	G	NM_006289		35711288	-1			no_errors	ENST00000314888	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	35711288	G	T	35711288	3	4	45	1	0	0	0	0	1	0	0	0	15994	1203	42	3	3754	3	TLN1	9	35711288	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	666279	35711288	105502143	140	10978											
TRPM3	80036	genome.wustl.edu	37	chr9	73399063	73399063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaaaggccaggatgtccGatgcccgtccactcccatca	9	6	9	17	2	1	0	1	0	0	0	4	2	4	1	6	2	1	0	6	2	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:73399063G>A	ENST00000377111.2	-	7	1349	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	TRPM3_ENST00000377110.3_Missense_Mutation_p.S369L|TRPM3_ENST00000377106.1_Missense_Mutation_p.S241L|TRPM3_ENST00000408909.2_Missense_Mutation_p.S216L|TRPM3_ENST00000423814.3_Missense_Mutation_p.S396L|TRPM3_ENST00000396280.5_Missense_Mutation_p.S216L|TRPM3_ENST00000357533.2_Missense_Mutation_p.S371L|TRPM3_ENST00000361823.5_Missense_Mutation_p.S216L|TRPM3_ENST00000396285.1_Missense_Mutation_p.S216L|TRPM3_ENST00000396283.1_Missense_Mutation_p.S241L|TRPM3_ENST00000360823.2_Missense_Mutation_p.S241L|TRPM3_ENST00000396292.4_Missense_Mutation_p.S241L|TRPM3_ENST00000377105.1_Missense_Mutation_p.S216L|TRPM3_ENST00000358082.3_Missense_Mutation_p.S241L|TRPM3_ENST00000377101.1_Missense_Mutation_p.S216L	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	394					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAGGATGTCCGATGCCCGTCC	0.527																																																	0													112	98	103					9																	73399063		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1106C>T	9.37:g.73399063G>A	ENSP00000366315:p.Ser369Leu		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S396L	ENST00000377111.2	37	c.1187		9	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819837	0.90873	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69806	4.08;4.08;0.48;0.48;4.08;4.08;4.08;4.08;0.48;0.48;0.52;4.08;-0.43;1.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	L	0.55834	1.745	0.58432	D	0.999999	P;P;P;P;P;P;P;P;P;P	0.51351	0.944;0.469;0.933;0.76;0.938;0.943;0.943;0.938;0.719;0.782	B;B;P;B;B;B;B;B;B;B	0.47603	0.349;0.131;0.551;0.091;0.285;0.349;0.349;0.285;0.203;0.145	T	0.73418	-0.3989	10	0.66056	D	0.02	-24.0923	20.2985	0.98592	0.0:0.0:1.0:0.0	.	394;216;369;369;369;371;241;216;369;216	Q9HCF6;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.	L	369;369;241;241;216;371;216;216;241;241;396;216;241;216	ENSP00000366315:S369L;ENSP00000366314:S369L;ENSP00000366310:S241L;ENSP00000354066:S241L;ENSP00000366309:S216L;ENSP00000350140:S371L;ENSP00000386127:S216L;ENSP00000379581:S216L;ENSP00000379587:S241L;ENSP00000350791:S241L;ENSP00000389542:S396L;ENSP00000366305:S216L;ENSP00000379579:S241L;ENSP00000355395:S216L	ENSP00000350140:S371L	S	-	2	0	TRPM3	72588883	1.000000	0.71417	0.944000	0.38274	0.858000	0.48976	9.860000	0.99555	2.793000	0.96121	0.655000	0.94253	TCG	TRPM3	-	NULL	ENSG00000083067		0.527	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	24	0	G	NM_206945		73399063	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	A	A	73399063	G	A	73399063	3	1	45	1	0	0	0	0	1	0	0	0	16635	1059	37	1	4137	1	TRPM3	9	73399063	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	37687775	73399063	67814368	141	10979											
OMD	4958	genome.wustl.edu	37	chr9	95177605	95177605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgaccattagtgcttcgTtgttcaccataataaatagt	11	16	7	7	1	1	1	1	1	0	0	2	1	1	1	2	0	1	4	2	0	5	8			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:95177605T>C	ENST00000375550.4	-	3	1370	c.1095A>G	c.(1093-1095)caA>caG	p.Q365Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	365					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TAGTGCTTCGTTGTTCACCAT	0.353			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	0													221	208	212					9																	95177605		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.1095A>G	9.37:g.95177605T>C			Q5TBF4	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.Q365	ENST00000375550.4	37	c.1095	CCDS6696.1	9																																																																																			OMD	-	NULL	ENSG00000127083		0.353	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMD	HGNC	protein_coding	OTTHUMT00000053090.1	-	0	22	0	T	NM_005014		95177605	-1	tier1	-	no_errors	ENST00000375550	ensembl	human	known	74_37	silent	20.73	65	17	SNP	0.998	C	C	95177605	T	C	95177605	2	2	45	1	0	0	0	0	0	0	0	1	10904	1722	60	4		4	OMD	9	95177605	Silent	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	21778542	95177605	46035826	142	10980											
PTCH1	5727	genome.wustl.edu	37	chr9	98220417	98220417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtactgctcccagaagaGgaaggggtagccgttggggt	9	8	17	7	1	0	2	0	0	0	2	1	4	1	3	2	5	3	4	2	5	4	3	rs374575067		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:98220417G>T	ENST00000331920.6	-	18	3345	c.3046C>A	c.(3046-3048)Ctc>Atc	p.L1016I	PTCH1_ENST00000421141.1_Missense_Mutation_p.L865I|PTCH1_ENST00000429896.2_Missense_Mutation_p.L865I|PTCH1_ENST00000437951.1_Missense_Mutation_p.L950I|PTCH1_ENST00000375274.2_Missense_Mutation_p.L1015I|PTCH1_ENST00000430669.2_Missense_Mutation_p.L950I|PTCH1_ENST00000418258.1_Missense_Mutation_p.L865I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1016					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.I963fs*2(1)|p.L1016F(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCCAGAAGAGGAAGGGGTAG	0.557																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	central_nervous_system(1)|skin(1)											79	71	74					9																	98220417		2203	4300	6503	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3046C>A	9.37:g.98220417G>T	ENSP00000332353:p.Leu1016Ile		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.L1016I	ENST00000331920.6	37	c.3046	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067116	0.76301	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.87	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	L	0.31804	0.96	0.80722	D	1	P;D;P	0.67145	0.754;0.996;0.771	P;D;P	0.68192	0.525;0.956;0.579	T	0.81938	-0.0704	10	0.10377	T	0.69	-32.7351	15.4071	0.74887	0.0666:0.0:0.9334:0.0	.	950;1015;1016	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	I	1016;950;865;865;452;950;865;1015	ENSP00000332353:L1016I;ENSP00000389744:L950I;ENSP00000399981:L865I;ENSP00000396135:L865I;ENSP00000410287:L950I;ENSP00000414823:L865I;ENSP00000364423:L1015I	ENSP00000332353:L1016I	L	-	1	0	PTCH1	97260238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	1.636000	0.50526	0.655000	0.94253	CTC	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.557	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0	9	0	G	NM_000264		98220417	-1			no_errors	ENST00000331920	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	98220417	G	T	98220417	3	4	45	1	0	0	0	0	1	0	0	0	12772	1000	35	3	1321	3	PTCH1	9	98220417	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3042812	98220417	42993014	143	10981											
FKBP15	23307	genome.wustl.edu	37	chr9	115940968	115940968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagatctgtctccttcagGctttctgtcagctgcatctg	7	14	9	11	0	6	2	2	0	4	2	7	2	6	2	1	1	2	3	1	1	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:115940968G>A	ENST00000238256.3	-	20	2145	c.2028C>T	c.(2026-2028)agC>agT	p.S676S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	676					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TCTCCTTCAGGCTTTCTGTCA	0.512																																																	0													62	57	58					9																	115940968		1929	4147	6076	SO:0001819	synonymous_variant	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2028C>T	9.37:g.115940968G>A			Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.S676	ENST00000238256.3	37	c.2028	CCDS48007.1	9																																																																																			FKBP15	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000119321		0.512	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding			0	23	0	G	NM_015258		115940968	-1			no_errors	ENST00000238256	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.023	A	A	115940968	G	A	115940968	2	1	45	1	0	0	0	0	0	0	0	1	5927	1194	42	3		3	FKBP15	9	115940968	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	17720551	115940968	25272463	144	10982											
ASTN2	23245	genome.wustl.edu	37	chr9	119977005	119977005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcagcagcagcagcAgcgcgatgaggccaccctgg	11	2	13	15	2	0	1	0	1	0	0	0	2	0	1	3	2	6	5	3	2	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:119977005A>G	ENST00000313400.4	-	3	747	c.647T>C	c.(646-648)cTg>cCg	p.L216P	ASTN2_ENST00000373996.3_Missense_Mutation_p.L216P|ASTN2_ENST00000361209.2_Missense_Mutation_p.L216P|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	216					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGCAGCAGCAGCGCGATGAG	0.607																																																	0													30	32	32					9																	119977005		2203	4298	6501	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.647T>C	9.37:g.119977005A>G	ENSP00000314038:p.Leu216Pro		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.L216P	ENST00000313400.4	37	c.647		9	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220508	0.79464	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.18810	2.29;2.29;2.19	5.41	5.41	0.78517	.	0.000000	0.56097	D	0.000023	T	0.32971	0.0847	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.997;0.988	T	0.04840	-1.0923	9	.	.	.	-13.0139	15.1153	0.72397	1.0:0.0:0.0:0.0	.	216;216;216	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	P	216	ENSP00000314038:L216P;ENSP00000363108:L216P;ENSP00000354504:L216P	.	L	-	2	0	ASTN2	119016826	1.000000	0.71417	0.860000	0.33809	0.991000	0.79684	9.296000	0.96104	2.055000	0.61198	0.533000	0.62120	CTG	ASTN2	-	NULL	ENSG00000148219		0.607	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding			0	8	0	A	NM_014010		119977005	-1			no_errors	ENST00000313400	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	G	G	119977005	A	G	119977005	3	3	45	1	0	0	0	0	1	0	0	0	1066	188	7	4	3531	4	ASTN2	9	119977005	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	4036037	119977005	21236426	145	10983											
LAMC3	10319	genome.wustl.edu	37	chr9	133945187	133945187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcttcctcacggcagacGgcacacactgccagcaatgt	10	8	8	15	2	2	1	1	0	1	1	3	1	3	1	2	2	2	3	2	2	1	2	rs141105450		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:133945187G>A	ENST00000361069.4	+	17	3152	c.3019G>A	c.(3019-3021)Ggc>Agc	p.G1007S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1007	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACGGCAGACGGCACACACTG	0.602																																																	0								G	SER/GLY	1,4399		0,1,2199	57	39	45		3019	3.9	0	9	dbSNP_134	45	0,8594		0,0,4297	no	missense	LAMC3	NM_006059.3	56	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	benign	1007/1576	133945187	1,12993	2200	4297	6497	SO:0001583	missense	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3019G>A	9.37:g.133945187G>A	ENSP00000354360:p.Gly1007Ser		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G1007S	ENST00000361069.4	37	c.3019	CCDS6938.1	9	.	.	.	.	.	.	.	.	.	.	G	0.975	-0.698899	0.03279	2.27E-4	0.0	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.53857	0.6	4.78	3.88	0.44766	EGF-like, laminin (4);	0.298854	0.32055	N	0.006657	T	0.27489	0.0675	N	0.11673	0.155	0.09310	N	1	B	0.28378	0.209	B	0.25884	0.064	T	0.16719	-1.0393	10	0.11794	T	0.64	.	8.7078	0.34365	0.195:0.0:0.805:0.0	.	1007	Q9Y6N6	LAMC3_HUMAN	S	1007	ENSP00000354360:G1007S	ENSP00000347156:G1007S	G	+	1	0	LAMC3	132935008	0.000000	0.05858	0.005000	0.12908	0.210000	0.24377	0.175000	0.16762	1.010000	0.39314	0.650000	0.86243	GGC	LAMC3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000050555		0.602	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	-	0	22	0	G	NM_006059		133945187	1	tier1	rs141105450	no_errors	ENST00000361069	ensembl	human	known	74_37	missense	34.88	28	15	SNP	0.011	A	A	133945187	G	A	133945187	3	1	45	1	0	0	0	0	1	0	0	0	8644	1116	39	1	3085	1	LAMC3	9	133945187	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	13968182	133945187	7268244	146	10984											
INPP5E	56623	genome.wustl.edu	37	chr9	139324152	139324152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaacggagcagatggtgctgGagttctgactctgtagtgct	9	11	14	7	1	2	2	0	1	2	1	2	4	2	4	0	3	4	5	0	3	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:139324152G>A	ENST00000371712.3	-	10	2312	c.1910C>T	c.(1909-1911)tCc>tTc	p.S637F		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GATGGTGCTGGAGTTCTGACT	0.458																																																	0													255	237	243					9																	139324152		2203	4300	6503	SO:0001583	missense	0			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1910C>T	9.37:g.139324152G>A	ENSP00000360777:p.Ser637Phe		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.S637F	ENST00000371712.3	37	c.1910	CCDS7000.1	9	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779003	0.31502	.	.	ENSG00000148384	ENST00000371712	D	0.97976	-4.64	5.54	5.54	0.83059	.	0.465165	0.23132	N	0.051569	D	0.96685	0.8918	L	0.56769	1.78	0.44175	D	0.99698	P;P	0.47106	0.834;0.89	B;B	0.43018	0.324;0.405	D	0.97231	0.9884	10	0.72032	D	0.01	-24.8543	16.6228	0.84934	0.0:0.0:1.0:0.0	.	603;637	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	F	637	ENSP00000360777:S637F	ENSP00000360777:S637F	S	-	2	0	INPP5E	138443973	1.000000	0.71417	0.420000	0.26596	0.103000	0.19146	2.639000	0.46570	2.599000	0.87857	0.651000	0.88453	TCC	INPP5E	-	NULL	ENSG00000148384		0.458	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1		0	15	0	G	NM_019892		139324152	-1			no_errors	ENST00000371712	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.971	A	A	139324152	G	A	139324152	3	1	45	1	0	0	0	0	1	0	0	0	7784	1174	41	3	28	3	INPP5E	9	139324152	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	5378965	139324152	1889279	147	10985											
INPP5E	56623	genome.wustl.edu	37	chr9	139324165	139324165	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggagttctgactctGtagtgcttgctgcctctgaa	5	14	13	9	0	3	2	0	2	3	0	3	3	3	3	1	2	4	5	1	2	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr9:139324165G>A	ENST00000371712.3	-	10	2299	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TTCTGACTCTGTAGTGCTTGC	0.468																																																	0													245	229	235					9																	139324165		2203	4300	6503	SO:0001587	stop_gained	0			AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"Joubert syndrome 1"	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.1897C>T	9.37:g.139324165G>A	ENSP00000360777:p.Gln633*		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.Q633*	ENST00000371712.3	37	c.1897	CCDS7000.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.516611	0.96402	.	.	ENSG00000148384	ENST00000371712	.	.	.	5.27	2.85	0.33270	.	0.225164	0.43579	D	0.000559	.	.	.	.	.	.	0.46185	D	0.99891	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.4428	10.3018	0.43656	0.0:0.0:0.338:0.662	.	.	.	.	X	633	.	ENSP00000360777:Q633X	Q	-	1	0	INPP5E	138443986	0.992000	0.36948	0.001000	0.08648	0.005000	0.04900	2.942000	0.49018	0.292000	0.22492	-0.269000	0.10298	CAG	INPP5E	-	NULL	ENSG00000148384		0.468	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5E	HGNC	protein_coding	OTTHUMT00000055058.1		0	13	0	G	NM_019892		139324165	-1			no_errors	ENST00000371712	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	0.041	A	A	139324165	G	A	139324165	4	1	45	1	0	0	0	0	0	1	0	0	7784	1386	48	3	41	3	INPP5E	9	139324165	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	13	139324165	1889266	148	10986											
IL2RA	3559	genome.wustl.edu	37	chr10	6063544	6063544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctctcagcaggacctctGtgtagagccctgtatccctg	7	10	10	14	1	2	1	1	0	2	1	4	2	3	2	3	1	2	4	3	1	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:6063544G>A	ENST00000379959.3	-	4	653	c.480C>T	c.(478-480)caC>caT	p.H160H	IL2RA_ENST00000379954.1_Intron|IL2RA_ENST00000256876.6_Silent_p.H160H	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	160	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CAGGACCTCTGTGTAGAGCCC	0.512																																																	0													187	167	173					10																	6063544		2203	4300	6503	SO:0001819	synonymous_variant	0			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.480C>T	10.37:g.6063544G>A			Q5W007	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H160	ENST00000379959.3	37	c.480	CCDS7076.1	10																																																																																			IL2RA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134460		0.512	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	-	0	33	0	G	NM_000417		6063544	-1	tier1	-	no_errors	ENST00000379959	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.000	A	A	6063544	G	A	6063544	2	1	45	1	0	0	0	0	0	0	0	1	7713	1368	48	3		3	IL2RA	10	6063544	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		6063544	129471203	149	10987											
IL2RA	3559	genome.wustl.edu	37	chr10	6066312	6066312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacttgtttcgttgtgttccGagtggctagaaaatatagat	10	15	10	6	2	0	2	0	0	0	2	2	3	1	2	1	1	0	4	1	1	5	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:6066312G>C	ENST00000379959.3	-	3	435	c.262C>G	c.(262-264)Cgg>Ggg	p.R88G	IL2RA_ENST00000379954.1_Missense_Mutation_p.R88G|RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000256876.6_Missense_Mutation_p.R88G	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	88					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTTGTGTTCCGAGTGGCTAGA	0.418																																																	0													211	168	183					10																	6066312		2203	4300	6503	SO:0001583	missense	0			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"Interleukins and interleukin receptors", "CD molecules"	6008	protein-coding gene	gene with protein product		147730	"insulin-dependent diabetes mellitus 10"	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.262C>G	10.37:g.6066312G>C	ENSP00000369293:p.Arg88Gly		Q5W007	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R88G	ENST00000379959.3	37	c.262	CCDS7076.1	10	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291339	0.23564	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.47177	1.4;0.85;1.39	3.81	-6.59	0.01830	.	2.429920	0.01270	N	0.009427	T	0.33323	0.0859	L	0.47716	1.5	0.09310	N	1	B;P;P	0.46784	0.007;0.884;0.713	B;B;B	0.38954	0.004;0.286;0.069	T	0.45234	-0.9275	10	0.37606	T	0.19	-18.273	2.4664	0.04554	0.1323:0.3813:0.279:0.2074	.	88;74;88	Q5W005;E9PF94;P01589	.;.;IL2RA_HUMAN	G	88;74;88;88	ENSP00000369293:R88G;ENSP00000369287:R88G;ENSP00000256876:R88G	ENSP00000256876:R88G	R	-	1	2	IL2RA	6106318	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.850000	0.01670	-1.441000	0.01958	-0.704000	0.03662	CGG	IL2RA	-	NULL	ENSG00000134460		0.418	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	-	0	12	0	G	NM_000417		6066312	-1	tier1	-	no_errors	ENST00000379959	ensembl	human	known	74_37	missense	17.17	82	17	SNP	0.000	C	C	6066312	G	C	6066312	3	2	45	1	0	0	0	0	1	0	0	0	7713	1057	37	5	580	5	IL2RA	10	6066312	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2768	6066312	129468435	150	10988											
CUBN	8029	genome.wustl.edu	37	chr10	16962050	16962050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagatccaaatgcaatcagCgtgcgggggataattatgag	14	9	12	6	2	1	2	1	1	0	1	2	3	2	3	1	2	3	1	1	2	5	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:16962050C>T	ENST00000377833.4	-	44	6798	c.6733G>A	c.(6733-6735)Gct>Act	p.A2245T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2245	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGCAATCAGCGTGCGGGGGA	0.498																																																	0													66	58	61					10																	16962050		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6733G>A	10.37:g.16962050C>T	ENSP00000367064:p.Ala2245Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.A2245T	ENST00000377833.4	37	c.6733	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	7.858	0.725383	0.15439	.	.	ENSG00000107611	ENST00000377833	T	0.33865	1.39	5.11	2.26	0.28386	CUB (5);	0.165153	0.28659	N	0.014565	T	0.23210	0.0561	L	0.44542	1.39	0.18873	N	0.999986	B	0.34399	0.452	B	0.25405	0.06	T	0.13575	-1.0504	10	0.19147	T	0.46	.	9.1159	0.36758	0.0:0.7023:0.0:0.2977	.	2245	O60494	CUBN_HUMAN	T	2245	ENSP00000367064:A2245T	ENSP00000367064:A2245T	A	-	1	0	CUBN	17002056	0.008000	0.16893	0.032000	0.17829	0.083000	0.17756	0.278000	0.18753	0.203000	0.20529	-0.373000	0.07131	GCT	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0	14	0	C	NM_001081		16962050	-1			no_errors	ENST00000377833	ensembl	human	known	74_37	missense	10.39	69	8	SNP	0.085	T	T	16962050	C	T	16962050	3	4	45	1	0	0	0	0	1	0	0	0	4060	768	27	1	4234	1	CUBN	10	16962050	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	10895738	16962050	118572697	151	10989											
NSUN6	221078	genome.wustl.edu	37	chr10	18903421	18903421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccactgaagatttctttGcggcttagttcagaaatccc	11	13	7	10	1	2	3	1	1	1	2	4	3	4	3	2	1	1	2	2	1	4	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:18903421G>T	ENST00000377304.4	-	5	961	c.543C>A	c.(541-543)cgC>cgA	p.R181R		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	181	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AGATTTCTTTGCGGCTTAGTT	0.343																																																	0													87	82	84					10																	18903421		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"NOP2/Sun domain containing"	23529	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family 6", "NOL1/NOP2/Sun domain family, member 6", "ARL5B antisense RNA 1"	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.543C>A	10.37:g.18903421G>T			B0YJ54	Silent	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.R181	ENST00000377304.4	37	c.543	CCDS7130.1	10																																																																																			NSUN6	-	pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA	ENSG00000241058		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	-	0	28	0	G	NM_182543		18903421	-1	tier1	-	no_errors	ENST00000377304	ensembl	human	known	74_37	silent	19.82	89	22	SNP	0.159	T	T	18903421	G	T	18903421	2	4	45	1	0	0	0	0	0	0	0	1	10721	1306	46	3		3	NSUN6	10	18903421	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1941371	18903421	116631326	152	10990											
KIAA1217	56243	genome.wustl.edu	37	chr10	24762592	24762592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcatatcaccgcaccGccatccggtcagcgagtgct	8	9	9	15	4	3	0	3	0	0	0	4	1	4	0	4	1	3	3	4	1	1	2	rs368870981		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:24762592G>A	ENST00000376454.3	+	6	1312	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KIAA1217_ENST00000396445.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A146T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A146T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A428T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A428T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A349T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A348T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	428					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCACCGCACCGCCATCCGGTC	0.498																																																	0								G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	78	69	72		1042,1282,1282	5.6	0.3	10		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	348/1265,428/1310,428/1944	24762592	1,13005	2203	4300	6503	SO:0001583	missense	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1282G>A	10.37:g.24762592G>A	ENSP00000365637:p.Ala428Thr		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.A428T	ENST00000376454.3	37	c.1282	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268777	0.40095	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.050373	0.85682	D	0.000000	T	0.57829	0.2080	L	0.47716	1.5	0.41231	D	0.986579	P;B;P;B;D;D;D;P	0.89917	0.88;0.349;0.937;0.314;0.99;0.972;1.0;0.48	B;B;B;B;P;P;D;B	0.87578	0.173;0.12;0.281;0.144;0.496;0.496;0.998;0.071	T	0.56505	-0.7968	10	0.39692	T	0.17	.	8.7702	0.34728	0.0753:0.0:0.774:0.1507	.	428;428;146;146;146;146;428;428	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	348;428;428;146;428;428;278;349;146;146;146;146;146	ENSP00000365645:A348T;ENSP00000365639:A428T;ENSP00000392625:A428T;ENSP00000365637:A428T;ENSP00000365635:A428T;ENSP00000404798:A278T;ENSP00000389680:A349T;ENSP00000302343:A146T;ENSP00000379722:A146T;ENSP00000365634:A146T;ENSP00000379723:A146T	ENSP00000302343:A146T	A	+	1	0	KIAA1217	24802598	0.999000	0.42202	0.297000	0.24988	0.682000	0.39822	3.152000	0.50677	2.622000	0.88805	0.655000	0.94253	GCC	KIAA1217	-	NULL	ENSG00000120549		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2		0	10	0	G	NM_019590		24762592	1			no_errors	ENST00000376454	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.962	A	A	24762592	G	A	24762592	3	1	45	1	0	0	0	0	1	0	0	0	8243	1087	38	1	1304	1	KIAA1217	10	24762592	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	5859171	24762592	110772155	153	10991											
PCDH15	65217	genome.wustl.edu	37	chr10	55581894	55581894	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactgtcgttgttgatagCtgtgtcatagaggacttaat	10	14	10	7	1	1	2	1	1	0	1	2	3	1	3	0	1	1	3	0	1	3	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:55581894C>T	ENST00000320301.6	-	33	5986	c.5592G>A	c.(5590-5592)caG>caA	p.Q1864Q	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Silent_p.Q1866Q|PCDH15_ENST00000437009.1_Silent_p.Q1795Q|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Silent_p.Q1841Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Silent_p.Q1824Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Silent_p.Q1861Q|PCDH15_ENST00000395445.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1864					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTTGATAGCTGTGTCATAG	0.418										HNSCC(58;0.16)																																							0													233	222	226					10																	55581894		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5592G>A	10.37:g.55581894C>T			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	-	e17-1	ENST00000320301.6	37	c.2155-1	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	8.359	0.832730	0.16820	.	.	ENSG00000150275	ENST00000373957	.	.	.	5.09	-1.59	0.08453	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.826	0.18554	0.0:0.3475:0.3662:0.2863	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH15	55251900	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-0.720000	0.04969	-0.518000	0.06452	-0.226000	0.12346	.	PCDH15	-	-	ENSG00000150275		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0	21	0	C	NM_033056		55581894	-1			no_errors	ENST00000373957	ensembl	human	novel	74_37	splice_site	5.80	65	4	SNP	0.002	T	T	55581894	C	T	55581894	2	4	45	1	0	0	0	0	0	0	0	1	11550	796	28	3		3	PCDH15	10	55581894	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	30819302	55581894	79952853	154	10992											
NRG3	10718	genome.wustl.edu	37	chr10	84738876	84738876	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatacgataccttgccaagGgtaggtcttaaaacagcagt	13	9	11	8	1	1	0	0	0	1	0	1	2	1	1	2	3	5	2	2	3	6	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:84738876G>T	ENST00000404547.1	+	8	1583	c.1583G>T	c.(1582-1584)gGg>gTg	p.G528V	NRG3_ENST00000372142.2_Splice_Site_p.G307V|NRG3_ENST00000545131.1_Splice_Site_p.G178V|NRG3_ENST00000556918.1_Splice_Site_p.G358V|NRG3_ENST00000537893.1_Splice_Site_p.G178V|NRG3_ENST00000372141.2_Splice_Site_p.G528V|NRG3_ENST00000404576.2_Splice_Site_p.G332V			P56975	NRG3_HUMAN	neuregulin 3	528					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTTGCCAAGGGTAGGTCTTA	0.443																																																	0													81	68	73					10																	84738876		2203	4300	6503	SO:0001630	splice_region_variant	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1583+1G>T	10.37:g.84738876G>T			A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.G528V	ENST00000404547.1	37	c.1583	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078090	0.76528	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54071	1.42;1.22;1.23;0.59;0.59;0.59;0.59	5.83	5.83	0.93111	.	0.086976	0.48767	D	0.000161	T	0.68100	0.2964	L	0.50333	1.59	0.44492	D	0.997435	D;D;D;D	0.89917	1.0;0.993;1.0;1.0	D;D;D;D	0.97110	1.0;0.915;0.999;1.0	T	0.64419	-0.6412	10	0.40728	T	0.16	-32.5126	17.6312	0.88108	0.0:0.0:1.0:0.0	.	527;528;307;528	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	V	528;528;527;307;332;358;178;178	ENSP00000361214:G528V;ENSP00000384796:G528V;ENSP00000361215:G307V;ENSP00000385804:G332V;ENSP00000451376:G358V;ENSP00000441201:G178V;ENSP00000440377:G178V	ENSP00000361214:G528V	G	+	2	0	NRG3	84728856	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.668000	0.74457	2.763000	0.94921	0.563000	0.77884	GGG	NRG3	-	NULL	ENSG00000185737		0.443	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0	20	0	G	XM_166086	Missense_Mutation	84738876	1	tier1	-	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	T	T	84738876	G	T	84738876	5	4	45	1	0	0	0	0	0	0	1	0	10688	1246	43	3	1781	3	NRG3	10	84738876	Splice_Site	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	29156982	84738876	50795871	155	10993											
ACTA2	59	genome.wustl.edu	37	chr10	90697872	90697872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccttctgcattcggtcGgcaatgccagggtacatagt	8	12	10	11	2	2	0	0	0	2	0	5	0	2	0	2	3	3	3	2	3	3	4	rs200213764		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:90697872G>A	ENST00000458208.1	-	8	1410	c.936C>T	c.(934-936)gcC>gcT	p.A312A	ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Silent_p.A312A|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	312					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCATTCGGTCGGCAATGCCAG	0.522																																																	0													223	180	194					10																	90697872		2203	4300	6503	SO:0001819	synonymous_variant	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.936C>T	10.37:g.90697872G>A			B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.A312	ENST00000458208.1	37	c.936	CCDS7392.1	10																																																																																			ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.522	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1		0	24	0	G	NM_001613		90697872	-1			no_errors	ENST00000224784	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.016	A	A	90697872	G	A	90697872	2	1	45	1	0	0	0	0	0	0	0	1	192	1103	39	1		1	ACTA2	10	90697872	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	5958996	90697872	44836875	156	10994											
PDLIM1	9124	genome.wustl.edu	37	chr10	97031484	97031484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattttccccatcaatggCtgtgattacatctccaatac	11	14	5	11	0	2	1	1	1	1	0	4	1	3	1	3	1	2	2	3	1	5	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:97031484C>T	ENST00000329399.6	-	2	262	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	PDLIM1_ENST00000477757.1_Intron	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	52	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCATCAATGGCTGTGATTACA	0.438																																																	0													161	148	152					10																	97031484		2203	4300	6503	SO:0001583	missense	0			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"carboxyl terminal LIM domain protein 1", "elfin"	605900	"PDZ and LIM domain 1 (elfin)"	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.154G>A	10.37:g.97031484C>T	ENSP00000360305:p.Ala52Thr		B2RBS6|Q5VZH5|Q9BPZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.A52T	ENST00000329399.6	37	c.154	CCDS7441.1	10	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826682	0.71143	.	.	ENSG00000107438	ENST00000329399	T	0.29655	1.56	6.07	6.07	0.98685	PDZ/DHR/GLGF (4);	0.092424	0.85682	D	0.000000	T	0.34600	0.0903	M	0.68952	2.095	0.58432	D	0.999999	B	0.33807	0.426	B	0.34093	0.175	T	0.15521	-1.0434	10	0.72032	D	0.01	-18.7696	13.0052	0.58701	0.1611:0.8389:0.0:0.0	.	52	O00151	PDLI1_HUMAN	T	52	ENSP00000360305:A52T	ENSP00000360305:A52T	A	-	1	0	PDLIM1	97021474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.257000	0.43240	2.890000	0.99128	0.650000	0.86243	GCC	PDLIM1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000107438		0.438	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM1	HGNC	protein_coding	OTTHUMT00000049508.1		0	16	0	C			97031484	-1			no_errors	ENST00000329399	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	97031484	C	T	97031484	3	4	45	1	0	0	0	0	1	0	0	0	11718	797	28	3	859	3	PDLIM1	10	97031484	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	6333612	97031484	38503263	157	10995											
NOLC1	9221	genome.wustl.edu	37	chr10	103919022	103919022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagtagcaGtgatgactcagaggaggaga	14	4	15	8	0	1	4	1	2	0	2	1	6	1	5	0	2	5	6	0	2	1	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:103919022G>A	ENST00000605788.1	+	6	915	c.680G>A	c.(679-681)aGt>aAt	p.S227N	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_Missense_Mutation_p.S228N|NOLC1_ENST00000405356.1_Missense_Mutation_p.S227N	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		agcagtagcagTGATGACTCA	0.522																																																	0													113	116	115					10																	103919022		2203	4300	6503	SO:0001583	missense	0			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.680G>A	10.37:g.103919022G>A	ENSP00000474710:p.Ser227Asn		Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	pfam_SRP40_C,pfscan_LisH_dimerisation	p.S227N	ENST00000605788.1	37	c.680	CCDS7530.1	10	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737925	0.30774	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.42513	0.97	5.49	4.53	0.55603	.	0.603872	0.17866	N	0.159348	T	0.51126	0.1656	L	0.58810	1.83	0.35025	D	0.758251	P;D;P	0.55172	0.947;0.97;0.949	P;P;P	0.54026	0.74;0.74;0.554	T	0.63514	-0.6620	10	0.54805	T	0.06	4.8699	10.908	0.47092	0.0922:0.0:0.9078:0.0	.	228;227;227	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	N	227	ENSP00000385410:S227N	ENSP00000359024:S227N	S	+	2	0	NOLC1	103909012	0.437000	0.25593	0.925000	0.36789	0.342000	0.28953	2.332000	0.43903	1.198000	0.43158	0.655000	0.94253	AGT	NOLC1	-	NULL	ENSG00000166197		0.522	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOLC1	HGNC	protein_coding	OTTHUMT00000050012.2	-	0	40	0	G	NM_004741		103919022	1	tier1	-	no_errors	ENST00000405356	ensembl	human	known	74_37	missense	31.48	74	34	SNP	0.997	A	A	103919022	G	A	103919022	3	1	45	1	0	0	0	0	1	0	0	0	10568	1029	36	3	702	3	NOLC1	10	103919022	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	6887538	103919022	31615725	158	10996											
ATRNL1	26033	genome.wustl.edu	37	chr10	117704175	117704175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttccttccaggccttgCaattgccagtgccctaatag	7	13	7	14	0	1	0	0	0	1	0	3	0	3	0	5	1	3	1	5	1	3	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:117704175C>T	ENST00000355044.3	+	29	4151	c.4025C>T	c.(4024-4026)gCa>gTa	p.A1342V	ATRNL1_ENST00000303745.7_Missense_Mutation_p.A135V|ATRNL1_ENST00000423111.2_Missense_Mutation_p.A393V	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1342					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAGGCCTTGCAATTGCCAGT	0.418																																																	0													74	77	76					10																	117704175		2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.4025C>T	10.37:g.117704175C>T	ENSP00000347152:p.Ala1342Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A1342V	ENST00000355044.3	37	c.4025	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076758	0.55753	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.48522	0.81;0.81;0.81	5.78	5.78	0.91487	.	0.109014	0.64402	D	0.000007	T	0.72095	0.3418	M	0.81112	2.525	0.48901	D	0.999722	B;D	0.63880	0.099;0.993	B;D	0.68192	0.032;0.956	T	0.73665	-0.3911	10	0.72032	D	0.01	-16.8459	20.3754	0.98918	0.0:1.0:0.0:0.0	.	393;1342	B4DH41;Q5VV63	.;ATRN1_HUMAN	V	1342;393;135	ENSP00000347152:A1342V;ENSP00000409624:A393V;ENSP00000307660:A135V	ENSP00000307660:A135V	A	+	2	0	ATRNL1	117694165	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.338000	0.59316	2.894000	0.99253	0.591000	0.81541	GCA	ATRNL1	-	NULL	ENSG00000107518		0.418	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0	20	0	C	XM_049349		117704175	1			no_errors	ENST00000355044	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	117704175	C	T	117704175	3	4	45	1	0	0	0	0	1	0	0	0	1208	710	25	3	4139	3	ATRNL1	10	117704175	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	13785153	117704175	17830572	159	10997											
FGFR2	2263	genome.wustl.edu	37	chr10	123245031	123245031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagatctcccacattaaCaccccgaaggaccagctgca	13	6	8	14	1	1	2	0	1	1	1	2	4	1	3	4	1	3	2	4	1	3	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:123245031C>T	ENST00000358487.5	-	16	2345	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	FGFR2_ENST00000351936.6_Silent_p.V689V|FGFR2_ENST00000369056.1_Silent_p.V692V|FGFR2_ENST00000356226.4_Silent_p.V574V|FGFR2_ENST00000369060.4_Silent_p.V575V|FGFR2_ENST00000346997.2_Silent_p.V689V|FGFR2_ENST00000369059.1_Silent_p.V577V|FGFR2_ENST00000360144.3_Silent_p.V603V|FGFR2_ENST00000369061.4_Silent_p.V579V|FGFR2_ENST00000357555.5_Silent_p.V602V|FGFR2_ENST00000457416.2_Silent_p.V692V|FGFR2_ENST00000478859.1_Silent_p.V463V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CCCACATTAACACCCCGAAGG	0.507		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													95	85	89					10																	123245031		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2073G>A	10.37:g.123245031C>T			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V692	ENST00000358487.5	37	c.2076	CCDS31298.1	10																																																																																			FGFR2	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000066468		0.507	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	-	0	12	0	C	NM_022976, NM_000141		123245031	-1	tier1	-	no_errors	ENST00000457416	ensembl	human	known	74_37	silent	21.43	33	9	SNP	1.000	T	T	123245031	C	T	123245031	2	4	45	1	0	0	0	0	0	0	0	1	5888	465	17	3		3	FGFR2	10	123245031	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	5540856	123245031	12289716	160	10998											
TACC2	10579	genome.wustl.edu	37	chr10	123843281	123843281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacatccagcttcaagcctCgcttcattcccagctgctca	8	10	6	17	1	3	0	3	0	0	0	6	0	5	0	3	0	4	5	3	0	1	3	rs551434293	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:123843281C>T	ENST00000369005.1	+	4	1606	c.1266C>T	c.(1264-1266)ctC>ctT	p.L422L	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L422L|TACC2_ENST00000334433.3_Silent_p.L422L|TACC2_ENST00000515603.1_Silent_p.L422L|TACC2_ENST00000453444.2_Silent_p.L422L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	422					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.L422L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTTCAAGCCTCGCTTCATTCC	0.557													C|||	3	0.000599042	0	0	5008	,	,		20250	0		0	False		,,,				2504	0.0031																1	Substitution - coding silent(1)	urinary_tract(1)											73	75	74					10																	123843281		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1266C>T	10.37:g.123843281C>T			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.L422	ENST00000369005.1	37	c.1266	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.557	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0	13	0	C			123843281	1			no_errors	ENST00000334433	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.000	T	T	123843281	C	T	123843281	2	4	45	1	0	0	0	0	0	0	0	1	15549	871	31	1		1	TACC2	10	123843281	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	598250	123843281	11691466	161	10999											
C10orf90	118611	genome.wustl.edu	37	chr10	128193341	128193341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcccacgcgtctggccGtgatggtgatggatgcaaac	7	7	17	10	3	1	2	0	2	1	0	1	3	1	3	2	5	2	1	2	5	1	0	rs144072115	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr10:128193341G>A	ENST00000284694.7	-	3	548	c.428C>T	c.(427-429)aCg>aTg	p.T143M	C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.T96M|C10orf90_ENST00000392694.1_Missense_Mutation_p.T96M|C10orf90_ENST00000454341.1_Missense_Mutation_p.T143M|C10orf90_ENST00000544758.1_Missense_Mutation_p.T240M	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	143	Required for interaction with HDAC1. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GCGTCTGGCCGTGATGGTGAT	0.687											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	8	0.00159744	0	0	5008	,	,		13733	0		0.003	False		,,,				2504	0.0051																0								G	MET/THR	1,4365		0,1,2182	27	32	31		428	5.1	1	10	dbSNP_134	31	20,8540		0,20,4260	yes	missense	C10orf90	NM_001004298.2	81	0,21,6442	AA,AG,GG		0.2336,0.0229,0.1625	probably-damaging	143/700	128193341	21,12905	2183	4280	6463	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.428C>T	10.37:g.128193341G>A	ENSP00000284694:p.Thr143Met	1563	B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.T240M	ENST00000284694.7	37	c.719	CCDS31310.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.4	4.526101	0.85600	2.29E-4	0.002336	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.50813	1.01;0.96;1.16;1.03;0.73	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000024	T	0.68128	0.2967	M	0.65498	2.005	0.44937	D	0.997952	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.70981	-0.4724	10	0.87932	D	0	-20.6417	17.7212	0.88351	0.0:0.0:1.0:0.0	.	240;240;96;143;143	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	M	96;143;143;240;143;96;96	ENSP00000284694:T143M;ENSP00000398786:T143M;ENSP00000444369:T240M;ENSP00000405995:T143M;ENSP00000376459:T96M	ENSP00000284694:T143M	T	-	2	0	C10orf90	128183331	1.000000	0.71417	0.971000	0.41717	0.879000	0.50718	6.002000	0.70693	2.652000	0.90054	0.655000	0.94253	ACG	C10orf90	-	NULL	ENSG00000154493		0.687	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding			0	13	0	G	NM_001004298		128193341	-1			no_errors	ENST00000544758	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.994	A	A	128193341	G	A	128193341	3	1	45	1	0	0	0	0	1	0	0	0	1628	1145	40	1	1699	1	C10orf90	10	128193341	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	4350060	128193341	7341406	162	11000											
CKAP5	9793	genome.wustl.edu	37	chr11	46829606	46829606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatgcttttactaaatctGcataatcgccagcttccagt	11	15	5	10	1	1	0	0	0	1	0	3	0	2	0	2	0	4	3	2	0	5	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:46829606G>T	ENST00000529230.1	-	8	999	c.953C>A	c.(952-954)gCa>gAa	p.A318E	CKAP5_ENST00000415402.1_Missense_Mutation_p.A318E|CKAP5_ENST00000312055.5_Missense_Mutation_p.A318E|CKAP5_ENST00000354558.3_Missense_Mutation_p.A318E			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	318					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACTAAATCTGCATAATCGCC	0.388																																					Ovarian(4;85 273 2202 4844 13323)												0													234	242	240					11																	46829606		2201	4299	6500	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.953C>A	11.37:g.46829606G>T	ENSP00000432768:p.Ala318Glu		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.A318E	ENST00000529230.1	37	c.953	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793179	0.70452	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.094208	0.64402	D	0.000001	T	0.41604	0.1166	L	0.35854	1.095	0.50313	D	0.999862	B;B;B	0.23058	0.069;0.02;0.079	B;B;B	0.24006	0.05;0.05;0.046	T	0.19712	-1.0297	10	0.18710	T	0.47	.	19.5041	0.95108	0.0:0.0:1.0:0.0	.	318;318;318	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	E	318	ENSP00000432768:A318E;ENSP00000395302:A318E;ENSP00000310227:A318E;ENSP00000346566:A318E	ENSP00000310227:A318E	A	-	2	0	CKAP5	46786182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.614000	0.88457	0.561000	0.74099	GCA	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000175216		0.388	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1		0	21	0	G	NM_014756		46829606	-1			no_errors	ENST00000415402	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	46829606	G	T	46829606	3	4	45	1	0	0	0	0	1	0	0	0	3452	1319	46	3	5293	3	CKAP5	11	46829606	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		46829606	88176910	163	11001											
LRP4	4038	genome.wustl.edu	37	chr11	46890564	46890564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgctgaggggaaaccacGatgatatccatgagtccttc	10	9	11	11	2	0	3	0	3	0	0	3	5	2	4	4	2	2	1	4	2	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:46890564G>A	ENST00000378623.1	-	32	5054	c.4812C>T	c.(4810-4812)atC>atT	p.I1604I	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1604					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGGAAACCACGATGATATCCA	0.547																																																	0													254	211	226					11																	46890564		2201	4299	6500	SO:0001819	synonymous_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4812C>T	11.37:g.46890564G>A			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I1604	ENST00000378623.1	37	c.4812	CCDS31478.1	11																																																																																			LRP4	-	NULL	ENSG00000134569		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0	12	0	G	NM_002334		46890564	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.995	A	A	46890564	G	A	46890564	2	1	45	1	0	0	0	0	0	0	0	1	8994	1048	37	1		1	LRP4	11	46890564	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	60958	46890564	88115952	164	11002											
SCGB1D2	10647	genome.wustl.edu	37	chr11	62010902	62010902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaggagtgaagagatgcaCggatcagatgtcccttcaga	12	9	13	7	1	2	4	2	1	0	3	3	7	3	6	1	2	1	2	1	2	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:62010902C>T	ENST00000244926.3	+	2	295	c.197C>T	c.(196-198)aCg>aTg	p.T66M	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	66						extracellular space (GO:0005615)				breast(1)|endometrium(1)|lung(1)	3						AAGAGATGCACGGATCAGATG	0.453																																																	0													157	142	147					11																	62010902		2202	4299	6501	SO:0001583	missense	0			AJ224172	CCDS8017.1	11q13	2011-12-14			ENSG00000124935	ENSG00000124935		"Secretoglobins"	18396	protein-coding gene	gene with protein product	"prostatein-like lipophilin B", "lipophilin B (uteroglobin family member), prostatein-like"	615061				10066439, 9720917, 22155607	Standard	XM_006718422		Approved	LPHB, LIPB	uc001ntb.3	O95969	OTTHUMG00000167508	ENST00000244926.3:c.197C>T	11.37:g.62010902C>T	ENSP00000244926:p.Thr66Met		Q2M3N9	Missense_Mutation	SNP	pfam_Secretoglobin,superfamily_Secretoglobin	p.T66M	ENST00000244926.3	37	c.197	CCDS8017.1	11	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468217	0.26335	.	.	ENSG00000124935	ENST00000244926	T	0.15017	2.46	2.44	-4.74	0.03249	.	0.963863	0.08411	N	0.949879	T	0.29588	0.0738	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.22208	-1.0223	9	0.66056	D	0.02	.	3.7549	0.08581	0.1806:0.2502:0.0:0.5692	.	66	O95969	SG1D2_HUMAN	M	66	ENSP00000244926:T66M	ENSP00000244926:T66M	T	+	2	0	SCGB1D2	61767478	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.708000	0.01891	-1.128000	0.02922	0.313000	0.20887	ACG	SCGB1D2	-	pfam_Secretoglobin,superfamily_Secretoglobin	ENSG00000124935		0.453	SCGB1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D2	HGNC	protein_coding	OTTHUMT00000394859.1	-	0	9	0	C	NM_006551		62010902	1	tier1	-	no_errors	ENST00000244926	ensembl	human	known	74_37	missense	39.34	37	24	SNP	0.000	T	T	62010902	C	T	62010902	3	4	45	1	0	0	0	0	1	0	0	0	13942	536	19	1	203	1	SCGB1D2	11	62010902	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	15120338	62010902	72995614	165	11003											
TMEM223	79064	genome.wustl.edu	37	chr11	62558224	62558224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatggcagggacttcaccCcggtgggccatgcaagatac	10	6	13	12	1	1	1	1	0	0	1	1	2	1	2	3	4	3	3	3	4	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:62558224C>T	ENST00000307366.7	-	2	506	c.480G>A	c.(478-480)cgG>cgA	p.R160R	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|NXF1_ENST00000533048.1_5'Flank	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	160						integral component of membrane (GO:0016021)											GGACTTCACCCCGGTGGGCCA	0.537																																																	0													32	32	32					11																	62558224		1919	4132	6051	SO:0001819	synonymous_variant	0				CCDS44628.1	11q12.3	2008-12-08				ENSG00000168569			28464	protein-coding gene	gene with protein product							Standard	NM_001080501		Approved	MGC3196	uc001nve.2	A0PJW6		ENST00000307366.7:c.480G>A	11.37:g.62558224C>T			Q504S0|Q86YD4|Q8WUC5|Q96HG0	Silent	SNP	NULL	p.R160	ENST00000307366.7	37	c.480	CCDS44628.1	11																																																																																			TMEM223	-	NULL	ENSG00000168569		0.537	TMEM223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM223	HGNC	protein_coding	OTTHUMT00000395674.1		0	9	0	C			62558224	-1			no_errors	ENST00000307366	ensembl	human	known	74_37	silent	12.50	42	6	SNP	0.003	T	T	62558224	C	T	62558224	2	4	45	1	0	0	0	0	0	0	0	1	16193	610	22	3		3	TMEM223	11	62558224	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	547322	62558224	72448292	166	11004											
RPS6KA4	8986	genome.wustl.edu	37	chr11	64128017	64128017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcaaggaggctgaggtgCgcgtgtatgggggtgagatc	8	9	18	6	2	1	2	1	2	0	1	2	4	1	3	0	5	1	2	0	5	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:64128017C>T	ENST00000334205.4	+	4	480	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R139C|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R139C	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	139	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GGCTGAGGTGCGCGTGTATGG	0.602																																																	0													74	54	61					11																	64128017		2201	4297	6498	SO:0001583	missense	0			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.415C>T	11.37:g.64128017C>T	ENSP00000333896:p.Arg139Cys		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.R139C	ENST00000334205.4	37	c.415	CCDS8073.1	11	.	.	.	.	.	.	.	.	.	.	c	10.61	1.397391	0.25205	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.27256	1.68;1.68;1.68;1.68	3.32	3.32	0.38043	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.071673	0.53938	D	0.000052	T	0.43500	0.1250	M	0.67953	2.075	0.52099	D	0.999948	B;D;D;D	0.76494	0.208;0.998;0.999;0.999	B;P;D;P	0.66716	0.021;0.817;0.946;0.88	T	0.24012	-1.0172	10	0.25106	T	0.35	.	12.8929	0.58082	0.0:1.0:0.0:0.0	.	139;139;139;139	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	C	139;139;139;123	ENSP00000435580:R139C;ENSP00000333896:R139C;ENSP00000294261:R139C;ENSP00000432945:R123C	ENSP00000294261:R139C	R	+	1	0	RPS6KA4	63884593	0.562000	0.26586	1.000000	0.80357	0.981000	0.71138	1.054000	0.30455	2.165000	0.68154	0.313000	0.20887	CGC	RPS6KA4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000162302		0.602	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA4	HGNC	protein_coding	OTTHUMT00000106246.2		0	10	0	C	NM_003942		64128017	1			no_errors	ENST00000334205	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	64128017	C	T	64128017	3	4	45	1	0	0	0	0	1	0	0	0	13698	768	27	1	429	1	RPS6KA4	11	64128017	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	1569793	64128017	70878499	167	11005											
LTBP3	4054	genome.wustl.edu	37	chr11	65307039	65307039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgggggcttccccaacAgcagggggcttgtgtcccag	5	9	14	13	0	1	0	0	0	1	0	3	0	3	0	3	4	2	3	3	4	1	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:65307039A>T	ENST00000301873.5	-	26	3876	c.3608T>A	c.(3607-3609)cTg>cAg	p.L1203Q	LTBP3_ENST00000536982.1_Missense_Mutation_p.L782Q|LTBP3_ENST00000322147.4_Missense_Mutation_p.L1156Q|LTBP3_ENST00000530785.1_Missense_Mutation_p.L206Q|LTBP3_ENST00000532932.1_Missense_Mutation_p.L633Q|LTBP3_ENST00000529189.1_Missense_Mutation_p.L159Q	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1203					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTTCCCCAACAGCAGGGGGCT	0.647																																																	0													35	44	41					11																	65307039		2201	4297	6498	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3608T>A	11.37:g.65307039A>T	ENSP00000301873:p.Leu1203Gln		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L1203Q	ENST00000301873.5	37	c.3608	CCDS44647.1	11	.	.	.	.	.	.	.	.	.	.	A	13.77	2.335338	0.41398	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000529371;ENST00000530866	T;D;T;T;D;T;T;T;D	0.82619	-1.47;-1.56;-1.38;-0.47;-1.55;-1.42;-1.11;1.0;-1.63	4.34	4.34	0.51931	Matrix fibril-associated (1);	0.192074	0.44285	D	0.000463	T	0.67277	0.2876	N	0.08118	0	0.25314	N	0.989171	P;P;P;P;P;P;P	0.46395	0.8;0.545;0.641;0.877;0.846;0.664;0.61	P;B;B;B;B;B;B	0.45037	0.467;0.221;0.202;0.276;0.367;0.143;0.205	T	0.59209	-0.7497	10	0.29301	T	0.29	.	7.2492	0.26140	0.8024:0.0:0.0:0.1976	.	1114;782;1039;1203;1156;633;782	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	Q	206;1156;1203;206;159;633;782;159;76;1114	ENSP00000326647:L1156Q;ENSP00000301873:L1203Q;ENSP00000434315:L206Q;ENSP00000434406:L159Q;ENSP00000435530:L633Q;ENSP00000441912:L782Q;ENSP00000436341:L159Q;ENSP00000436032:L76Q;ENSP00000435276:L1114Q	ENSP00000301873:L1203Q	L	-	2	0	LTBP3	65063615	0.276000	0.24211	0.994000	0.49952	0.903000	0.53119	2.818000	0.48041	1.600000	0.50102	0.402000	0.26972	CTG	LTBP3	-	superfamily_TB_dom	ENSG00000168056		0.647	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0	12	0	A	NM_021070		65307039	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.578	T	T	65307039	A	T	65307039	3	4	45	1	0	0	0	0	1	0	0	0	9110	188	7	5	315	5	LTBP3	11	65307039	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	1179022	65307039	69699477	168	11006											
CTSF	8722	genome.wustl.edu	37	chr11	66333156	66333156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatacccaaattctttatgGccgagtaggcattggagggc	10	10	12	9	1	1	0	0	0	1	0	1	2	1	1	2	4	1	3	2	4	4	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:66333156G>T	ENST00000310325.5	-	8	1140	c.1031C>A	c.(1030-1032)gCc>gAc	p.A344D	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	344					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCTTTATGGCCGAGTAGGC	0.542																																																	0													103	110	108					11																	66333156		2200	4295	6495	SO:0001583	missense	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1031C>A	11.37:g.66333156G>T	ENSP00000310832:p.Ala344Asp		B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.A344D	ENST00000310325.5	37	c.1031	CCDS8144.1	11	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565103	0.45694	.	.	ENSG00000174080	ENST00000310325	T	0.22743	1.94	4.83	4.83	0.62350	Peptidase C1A, papain C-terminal (2);	0.162223	0.53938	D	0.000055	T	0.34366	0.0895	L	0.32530	0.975	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	T	0.01844	-1.1262	10	0.41790	T	0.15	.	15.8028	0.78468	0.0:0.0:1.0:0.0	.	344	Q9UBX1	CATF_HUMAN	D	344	ENSP00000310832:A344D	ENSP00000310832:A344D	A	-	2	0	CTSF	66089732	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	7.457000	0.80775	2.670000	0.90874	0.561000	0.74099	GCC	CTSF	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000174080		0.542	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1		0	17	0	G	NM_003793		66333156	-1			no_errors	ENST00000310325	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	66333156	G	T	66333156	3	4	45	1	0	0	0	0	1	0	0	0	4043	1203	42	3	447	3	CTSF	11	66333156	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1026117	66333156	68673360	169	11007											
CORO1B	57175	genome.wustl.edu	37	chr11	67210002	67210002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgtcccaggtaacaCgggacacgcgaatgtcctca	10	7	12	12	3	1	0	1	0	0	0	3	2	3	1	2	3	2	2	2	3	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:67210002C>T	ENST00000341356.5	-	2	208	c.98G>A	c.(97-99)cGt>cAt	p.R33H	CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000393893.1_Missense_Mutation_p.R33H|CORO1B_ENST00000453768.2_Missense_Mutation_p.R33H|CORO1B_ENST00000545016.1_Missense_Mutation_p.R33H	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	33					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCAGGTAACACGGGACACGCG	0.602																																																	0													128	93	105					11																	67210002		2199	4295	6494	SO:0001583	missense	0			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"Coronins", "WD repeat domain containing"	2253	protein-coding gene	gene with protein product		609849	"coronin, actin-binding protein, 1B"			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.98G>A	11.37:g.67210002C>T	ENSP00000340211:p.Arg33His		B2RD45	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R33H	ENST00000341356.5	37	c.98	CCDS8164.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650205	0.87958	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.77877	0.02;0.02;1.59;-1.13	4.31	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Domain of unknown function DUF1899 (1);	0.000000	0.44285	D	0.000474	D	0.84325	0.5447	L	0.54965	1.715	0.54753	D	0.999984	D;D;D	0.67145	0.985;0.978;0.996	P;P;D	0.65140	0.806;0.796;0.932	D	0.85440	0.1154	10	0.52906	T	0.07	-13.6447	16.9526	0.86249	0.0:1.0:0.0:0.0	.	33;33;33	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	H	33;33;60;33;33	ENSP00000377471:R33H;ENSP00000340211:R33H;ENSP00000416006:R33H;ENSP00000438056:R33H	ENSP00000340211:R33H	R	-	2	0	CORO1B	66966578	0.843000	0.29541	1.000000	0.80357	0.996000	0.88848	1.506000	0.35747	2.372000	0.80975	0.563000	0.77884	CGT	CORO1B	-	pfam_DUF1899,superfamily_WD40_repeat_dom	ENSG00000172725		0.602	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1		0	12	0	C	NM_020441		67210002	-1			no_errors	ENST00000341356	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	67210002	C	T	67210002	3	4	45	1	0	0	0	0	1	0	0	0	3761	536	19	1	1411	1	CORO1B	11	67210002	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	876846	67210002	67796514	170	11008											
PGR	5241	genome.wustl.edu	37	chr11	100999555	100999555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaatatgcgccctccaCgtccgacagcgactgctggt	7	9	11	14	4	1	0	0	0	1	0	3	3	3	1	3	2	3	1	3	2	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:100999555C>T	ENST00000325455.5	-	1	1700	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.V83M	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	83	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GCGCCCTCCACGTCCGACAGC	0.612																																					Pancreas(124;2271 2354 21954 22882)												0													67	60	62					11																	100999555		2203	4300	6503	SO:0001583	missense	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.247G>A	11.37:g.100999555C>T	ENSP00000325120:p.Val83Met		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.V83M	ENST00000325455.5	37	c.247	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759822	0.49468	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.09163	3.01;3.01	4.2	4.2	0.49525	.	0.342931	0.21143	N	0.079457	T	0.31167	0.0788	M	0.78049	2.395	0.32384	N	0.554119	D;D	0.89917	1.0;1.0	D;D	0.68353	0.957;0.957	T	0.41928	-0.9481	10	0.72032	D	0.01	.	11.931	0.52847	0.0:1.0:0.0:0.0	.	83;83	Q8TDS3;P06401	.;PRGR_HUMAN	M	83	ENSP00000325120:V83M;ENSP00000263463:V83M	ENSP00000263463:V83M	V	-	1	0	PGR	100504765	0.029000	0.19370	0.967000	0.41034	0.465000	0.32709	2.483000	0.45233	2.176000	0.68965	0.561000	0.74099	GTG	PGR	-	pfam_Progest_rcpt	ENSG00000082175		0.612	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1		0	21	0	C			100999555	-1			no_errors	ENST00000325455	ensembl	human	known	74_37	missense	6.31	193	13	SNP	0.956	T	T	100999555	C	T	100999555	3	4	45	1	0	0	0	0	1	0	0	0	11844	536	19	1	2586	1	PGR	11	100999555	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	33789553	100999555	34006961	171	11009											
CWF19L2	143884	genome.wustl.edu	37	chr11	107299551	107299551	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtagactttgtatcccgTagatgttctttttttggagg	8	18	10	5	1	1	2	0	0	1	2	2	3	2	3	1	2	0	4	1	2	4	8			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:107299551T>C	ENST00000282251.5	-	8	1434	c.1407A>G	c.(1405-1407)ctA>ctG	p.L469L	CWF19L2_ENST00000433523.1_Silent_p.L469L	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	469							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTGTATCCCGTAGATGTTCTT	0.358																																																	0													171	176	175					11																	107299551		2201	4298	6499	SO:0001819	synonymous_variant	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1407A>G	11.37:g.107299551T>C			A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.L469	ENST00000282251.5	37	c.1407	CCDS8336.2	11																																																																																			CWF19L2	-	NULL	ENSG00000152404		0.358	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0	14	0	T	NM_152434		107299551	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	silent	18.49	97	22	SNP	0.000	C	C	107299551	T	C	107299551	2	2	45	1	0	0	0	0	0	0	0	1	4081	1625	57	4		4	CWF19L2	11	107299551	Silent	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	6299996	107299551	27706965	172	11010											
FAM118B	79607	genome.wustl.edu	37	chr11	126110726	126110726	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaactaagaagcctcgagaActtgtgctagtgattggaac	15	9	10	7	1	0	3	0	1	0	2	1	5	0	4	1	1	5	1	1	1	7	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr11:126110726A>C	ENST00000533050.1	+	4	619	c.126A>C	c.(124-126)gaA>gaC	p.E42D	FAM118B_ENST00000360194.4_Missense_Mutation_p.E42D|FAM118B_ENST00000529731.1_Missense_Mutation_p.E42D|FAM118B_ENST00000525728.1_3'UTR	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	42										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		AGCCTCGAGAACTTGTGCTAG	0.448																																																	0													154	168	163					11																	126110726		2201	4299	6500	SO:0001583	missense	0			BC001340	CCDS8470.1	11q24.2	2014-03-13				ENSG00000197798			26110	protein-coding gene	gene with protein product						24569877	Standard	NM_024556		Approved	FLJ21103	uc001qdf.3	Q9BPY3		ENST00000533050.1:c.126A>C	11.37:g.126110726A>C	ENSP00000433343:p.Glu42Asp		Q9H7B0	Missense_Mutation	SNP	NULL	p.E42D	ENST00000533050.1	37	c.126	CCDS8470.1	11	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987441	0.74589	.	.	ENSG00000197798	ENST00000533050;ENST00000528985;ENST00000529731;ENST00000360194;ENST00000530043;ENST00000525338	T;T;T;T;T;T	0.52057	1.37;1.36;0.68;1.36;0.72;0.69	5.95	-3.31	0.04988	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	N	0.08118	0	0.51233	D	0.999915	D;D;D	0.61697	0.99;0.984;0.984	D;D;D	0.70935	0.971;0.956;0.956	T	0.29058	-1.0024	10	0.31617	T	0.26	-34.0041	15.0141	0.71570	0.4077:0.0:0.5923:0.0	.	42;42;42	G3V179;E9PMJ2;Q9BPY3	.;.;F118B_HUMAN	D	42	ENSP00000433343:E42D;ENSP00000434952:E42D;ENSP00000432712:E42D;ENSP00000353321:E42D;ENSP00000437285:E42D;ENSP00000435754:E42D	ENSP00000353321:E42D	E	+	3	2	FAM118B	125615936	1.000000	0.71417	0.953000	0.39169	0.907000	0.53573	0.708000	0.25719	-0.618000	0.05656	0.402000	0.26972	GAA	FAM118B	-	NULL	ENSG00000197798		0.448	FAM118B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM118B	HGNC	protein_coding	OTTHUMT00000386346.1	-	0	21	0	A	NM_024556		126110726	1	tier1	-	no_errors	ENST00000533050	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.989	C	C	126110726	A	C	126110726	3	2	45	1	0	0	0	0	1	0	0	0	5431	40	2	4	132	4	FAM118B	11	126110726	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	18811175	126110726	8895790	173	11011											
TEAD4	7004	genome.wustl.edu	37	chr12	3120205	3120205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccgctacatcaagctcCggacagggaagacccgcacc	10	5	10	16	3	1	1	1	0	0	1	2	3	2	3	4	2	3	3	4	2	3	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:3120205C>T	ENST00000359864.2	+	4	452	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	TEAD4_ENST00000358409.2_Missense_Mutation_p.R88W|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	88					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CATCAAGCTCCGGACAGGGAA	0.632																																																	0													70	68	69					12																	3120205		2203	4300	6503	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.262C>T	12.37:g.3120205C>T	ENSP00000352926:p.Arg88Trp		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.R88W	ENST00000359864.2	37	c.262	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711644	0.68730	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.35421	1.31;1.31;1.31	5.14	3.19	0.36642	.	0.000000	0.85682	D	0.000000	T	0.67562	0.2906	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73726	-0.3892	10	0.87932	D	0	-25.6998	11.1499	0.48453	0.5001:0.4998:0.0:0.0	.	88	Q15561	TEAD4_HUMAN	W	88	ENSP00000351184:R88W;ENSP00000352926:R88W;ENSP00000444528:R88W	ENSP00000351184:R88W	R	+	1	2	TEAD4	2990466	0.869000	0.29996	0.992000	0.48379	0.998000	0.95712	1.548000	0.36201	0.570000	0.29347	0.561000	0.74099	CGG	TEAD4	-	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	ENSG00000197905		0.632	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398475.1	-	0	13	0	C	NM_003213		3120205	1	tier1	-	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.881	T	T	3120205	C	T	3120205	3	4	45	1	0	0	0	0	1	0	0	0	15788	643	23	1	268	1	TEAD4	12	3120205	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09		3120205	130731690	174	11012											
GALNT8	26290	genome.wustl.edu	37	chr12	4835983	4835983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcgcaccatccccgacaCgcgagactacaggtgggatg	11	5	11	14	4	0	1	0	0	0	1	2	4	1	2	3	2	1	1	3	2	2	1	rs201255097		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:4835983C>T	ENST00000252318.2	+	2	834	c.497C>T	c.(496-498)aCg>aTg	p.T166M	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	166					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.T166M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATCCCCGACACGCGAGACTAC	0.572																																					Colon(108;631 1558 7270 20097 39846)												1	Substitution - Missense(1)	endometrium(1)											67	62	64					12																	4835983		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.497C>T	12.37:g.4835983C>T	ENSP00000252318:p.Thr166Met		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T166M	ENST00000252318.2	37	c.497	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472813	0.26423	.	.	ENSG00000130035	ENST00000252318	T	0.60040	0.22	4.46	3.57	0.40892	.	0.000000	0.56097	D	0.000031	T	0.55577	0.1929	L	0.58969	1.84	0.29611	N	0.846964	D	0.59767	0.986	P	0.48114	0.567	T	0.56505	-0.7968	9	.	.	.	.	7.9087	0.29778	0.0:0.888:0.0:0.112	.	166	Q9NY28	GALT8_HUMAN	M	166	ENSP00000252318:T166M	.	T	+	2	0	GALNT8	4706244	0.744000	0.28250	0.488000	0.27440	0.181000	0.23173	1.196000	0.32198	1.084000	0.41184	0.655000	0.94253	ACG	GALNT8	-	NULL	ENSG00000130035		0.572	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0	18	0	C	NM_017417		4835983	1	tier1	rs201255097	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.860	T	T	4835983	C	T	4835983	3	4	45	1	0	0	0	0	1	0	0	0	6244	536	19	1	503	1	GALNT8	12	4835983	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	1715778	4835983	129015912	175	11013											
STYK1	55359	genome.wustl.edu	37	chr12	10783828	10783829	+	Missense_Mutation	DNP	CT	CT	GC																															agaaagttttccacggatgtCtccttaagtggcaaagccac																										TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:10783828_10783829CT>GC	ENST00000075503.3	-	5	786_787	c.266_267AG>GC	c.(265-267)gAG>gGC	p.E89G		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCACGGATGTCTCCTTAAGTGG	0.54										HNSCC(73;0.22)																																							0																																										SO:0001583	missense	0			AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.266_267delinsGC	12.37:g.10783828_10783829delinsGC	ENSP00000075503:p.Glu89Gly		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E89D|p.E89G	ENST00000075503.3	37	c.267|c.266	CCDS8629.1	12																																																																																			STYK1	-	NULL	ENSG00000060140		0.54	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STYK1	HGNC	protein_coding	OTTHUMT00000399622.1		0	19	0	C|T	NM_018423		10783828|10783829	-1			no_errors	ENST00000075503	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.945|0.953	G|C	GC	10783829	CT	GC	10783828	3	3	45	1	0	0	0	0	1	0	0	0	15406	912	32	5	1029	5	STYK1	12	10783828	Missense_Mutation	DNP	CT	TCGA-JY-A93E-01A-11D-A37C-09	5947845	10783828	123068067	176	11014											
ZCRB1	85437	genome.wustl.edu	37	chr12	42711657	42711657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaaataaaataaatgcaaCccctttactcttcctggtat	16	12	3	10	0	1	0	0	0	1	0	2	0	2	0	3	1	3	2	3	1	9	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:42711657C>A	ENST00000266529.3	-	4	340	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.V12F	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	53	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		ATAAATGCAACCCCTTTACTC	0.333																																																	0													105	110	108					12																	42711657		2203	4299	6502	SO:0001583	missense	0			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	29620	protein-coding gene	gene with protein product	"U11/U12 snRNP 31K"	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.157G>T	12.37:g.42711657C>A	ENSP00000266529:p.Val53Phe		Q6PJX0|Q96TA6	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.V53F	ENST00000266529.3	37	c.157	CCDS8740.1	12	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834593	0.71373	.	.	ENSG00000139168	ENST00000266529;ENST00000552673;ENST00000552235	T;T;T	0.69685	-0.42;-0.42;-0.42	5.57	5.57	0.84162	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.31389	0.0795	N	0.00202	-1.86	0.80722	D	1	B	0.25441	0.126	B	0.30316	0.114	T	0.54970	-0.8213	10	0.02654	T	1	-13.8382	19.557	0.95354	0.0:1.0:0.0:0.0	.	53	Q8TBF4	ZCRB1_HUMAN	F	53;12;12	ENSP00000266529:V53F;ENSP00000446732:V12F;ENSP00000448780:V12F	ENSP00000266529:V53F	V	-	1	0	ZCRB1	40997924	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.277000	0.78572	2.630000	0.89119	0.655000	0.94253	GTT	ZCRB1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000139168		0.333	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCRB1	HGNC	protein_coding	OTTHUMT00000403813.1	-	0	11	0	C	NM_033114		42711657	-1	tier1	-	no_errors	ENST00000266529	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	A	A	42711657	C	A	42711657	3	1	45	1	0	0	0	0	1	0	0	0	17644	507	18	3	516	3	ZCRB1	12	42711657	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	31927829	42711657	91140238	177	11015											
PUS7L	83448	genome.wustl.edu	37	chr12	44124365	44124365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcaaaatctgtctataGcaacctggtatattcagttt	11	17	6	7	0	4	0	2	0	2	0	4	0	4	0	1	1	2	4	1	1	7	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:44124365G>T	ENST00000416848.2	-	9	2408	c.1920C>A	c.(1918-1920)tgC>tgA	p.C640*	PUS7L_ENST00000551923.1_Nonsense_Mutation_p.C640*|PUS7L_ENST00000431332.3_Nonsense_Mutation_p.C327*|PUS7L_ENST00000344862.5_Nonsense_Mutation_p.C640*	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	640	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTGTCTATAGCAACCTGGTA	0.388																																																	0													178	167	171					12																	44124365		2203	4300	6503	SO:0001587	stop_gained	0			BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1920C>A	12.37:g.44124365G>T	ENSP00000415899:p.Cys640*		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Nonsense_Mutation	SNP	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	p.C640*	ENST00000416848.2	37	c.1920	CCDS8743.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.575427	0.97676	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	.	.	.	5.13	4.24	0.50183	.	0.045183	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-10.409	14.442	0.67323	0.0722:0.0:0.9278:0.0	.	.	.	.	X	640;640;640;327	.	ENSP00000343081:C640X	C	-	3	2	PUS7L	42410632	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.123000	0.41996	1.490000	0.48466	0.650000	0.86243	TGC	PUS7L	-	pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD	ENSG00000129317		0.388	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PUS7L	HGNC	protein_coding	OTTHUMT00000403931.1		0	23	0	G	NM_031292		44124365	-1			no_errors	ENST00000344862	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T	T	44124365	G	T	44124365	4	4	45	1	0	0	0	0	0	1	0	0	12879	963	34	3	189	3	PUS7L	12	44124365	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1412708	44124365	89727530	178	11016											
SLC38A2	54407	genome.wustl.edu	37	chr12	46758906	46758906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacctaaatttctaaacagCgacaaaggaagaatgaccac	18	7	6	10	1	2	2	1	1	1	1	2	4	2	3	2	1	2	0	2	1	7	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:46758906C>T	ENST00000256689.5	-	8	1074	c.630G>A	c.(628-630)tcG>tcA	p.S210S	SLC38A2_ENST00000551374.1_Silent_p.S48S|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	210					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TTCTAAACAGCGACAAAGGAA	0.378																																					Ovarian(9;448 492 8335 28722 40361)												0													119	121	120					12																	46758906		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"Solute carriers"	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.630G>A	12.37:g.46758906C>T			Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	pfam_AA_transpt_TM	p.S210	ENST00000256689.5	37	c.630	CCDS8749.1	12																																																																																			SLC38A2	-	pfam_AA_transpt_TM	ENSG00000134294		0.378	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1		0	11	0	C			46758906	-1			no_errors	ENST00000256689	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.053	T	T	46758906	C	T	46758906	2	4	45	1	0	0	0	0	0	0	0	1	14649	755	27	1		1	SLC38A2	12	46758906	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2634541	46758906	87092989	179	11017											
SPATS2	65244	genome.wustl.edu	37	chr12	49884473	49884473	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcttacaggtagtgccAgtgaagtactcaaagaatgg	12	12	10	7	0	2	2	1	1	1	1	3	2	2	2	1	2	3	2	1	2	6	4	rs142230440	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:49884473A>T	ENST00000553127.1	+	7	736	c.223A>T	c.(223-225)Agt>Tgt	p.S75C	SPATS2_ENST00000552918.1_Missense_Mutation_p.S75C|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.S75C			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	75						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGGTAGTGCCAGTGAAGTACT	0.363																																																	0													126	117	120					12																	49884473		2203	4300	6503	SO:0001583	missense	0			AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.223A>T	12.37:g.49884473A>T	ENSP00000448228:p.Ser75Cys		A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.S75C	ENST00000553127.1	37	c.223	CCDS31794.1	12	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861623	0.71949	.	.	ENSG00000123352	ENST00000550997;ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.24	5.24	0.73138	UBA-like (1);	0.364000	0.29987	N	0.010698	T	0.45756	0.1358	L	0.29908	0.895	0.80722	D	1	D	0.57257	0.979	P	0.46975	0.533	T	0.46219	-0.9207	9	0.51188	T	0.08	-8.1089	11.5475	0.50702	1.0:0.0:0.0:0.0	.	75	Q86XZ4	SPAS2_HUMAN	C	75	.	ENSP00000326841:S75C	S	+	1	0	SPATS2	48170740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.668000	0.61568	1.974000	0.57490	0.472000	0.43445	AGT	SPATS2	-	superfamily_UBA-like	ENSG00000123352		0.363	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2	HGNC	protein_coding	OTTHUMT00000404023.1		0	23	0	A	NM_023071		49884473	1			no_errors	ENST00000321898	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	49884473	A	T	49884473	3	4	45	1	0	0	0	0	1	0	0	0	15066	188	7	5	237	5	SPATS2	12	49884473	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	3125567	49884473	83967422	180	11018											
GEFT	115557	genome.wustl.edu	37	chr12	58009787	58009788	+	Frame_Shift_Ins	INS	-	-	T																															agatcttggagagccaacggINSgacttcctcaacggtgaagc																										TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:58009787_58009788insT	ENST00000286494.4	+	13	1867_1868	c.1407_1408insT	c.(1408-1410)gacfs	p.D470fs	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.D509fs|AC025165.8_ENST00000610219.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	470	Sufficient to bind activated GNAQ.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAGCCAACGGGACTTCCTCAA	0.574																																																	0																																										SO:0001589	frameshift_variant	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	Exception_encountered	12.37:g.58009787_58009788insT	ENSP00000286494:p.Asp470fs		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D508fs	ENST00000286494.4	37	c.1524_1525	CCDS8947.1	12																																																																																			ARHGEF25	-	NULL	ENSG00000240771		0.574	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1		0	10	0	-	NM_133483		58009788	1	tier1		no_errors	ENST00000333972	ensembl	human	known	74_37	frame_shift_ins	29.41	12	5	INS	1.000:1.000	T	T	58009788	-	T	58009787	7	5	45	1	0	1	1	0	0	0	0	0	6354	1219	43	0	1679	0	GEFT	12	58009787	Frame_Shift_Ins	INS	-	TCGA-JY-A93E-01A-11D-A37C-09	8125314	58009787	75842108	181	11019											
CUX2	23316	genome.wustl.edu	37	chr12	111747999	111747999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagcttggggcctgaCggcactcggactttctcgct	4	9	13	15	3	1	1	0	1	1	0	3	2	1	2	3	5	1	3	3	5	0	2	rs368575682		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:111747999C>T	ENST00000261726.6	+	15	1567	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	471	Pro-rich.				cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGGGGCCTGACGGCACTCGGA	0.706																																																	0								C		0,3792		0,0,1896	17	20	19		1413	-9.6	0	12		19	1,8195		0,1,4097	no	coding-synonymous	CUX2	NM_015267.3		0,1,5993	TT,TC,CC		0.0122,0.0,0.0083		471/1487	111747999	1,11987	1896	4098	5994	SO:0001819	synonymous_variant	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1413C>T	12.37:g.111747999C>T			A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.D471	ENST00000261726.6	37	c.1413	CCDS41837.1	12																																																																																			CUX2	-	NULL	ENSG00000111249		0.706	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	30	0	C	NM_015267		111747999	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	silent	24.71	64	21	SNP	0.002	T	T	111747999	C	T	111747999	2	4	45	1	0	0	0	0	0	0	0	1	4074	535	19	1		1	CUX2	12	111747999	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	53738212	111747999	22103896	182	11020											
ULK1	8408	genome.wustl.edu	37	chr12	132396489	132396489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctccgttgactctcagtcCctgggcgagatgcagcagct	6	9	11	15	2	1	2	1	1	1	1	4	3	3	2	3	1	3	4	3	1	0	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr12:132396489C>T	ENST00000321867.4	+	13	1302	c.951C>T	c.(949-951)tcC>tcT	p.S317S		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	317	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACTCTCAGTCCCTGGGCGAGA	0.637																																																	0													48	46	47					12																	132396489		2203	4297	6500	SO:0001819	synonymous_variant	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.951C>T	12.37:g.132396489C>T			Q9UQ28	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S317	ENST00000321867.4	37	c.951	CCDS9274.1	12																																																																																			ULK1	-	superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.637	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	-	0	19	0	C			132396489	1	tier1	-	no_errors	ENST00000321867	ensembl	human	known	74_37	silent	24.24	25	8	SNP	1.000	T	T	132396489	C	T	132396489	2	4	45	1	0	0	0	0	0	0	0	1	17024	610	22	3		3	ULK1	12	132396489	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	20648490	132396489	1455406	183	11021											
SERPINE3	647174	genome.wustl.edu	37	chr13	51922369	51922369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagttccaggacactgcaGgccatcaggtgggggtgctg	7	8	16	10	0	2	0	2	0	0	0	3	1	3	1	2	5	2	3	2	5	0	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:51922369G>T	ENST00000521255.1	+	4	781	c.721G>T	c.(721-723)Ggc>Tgc	p.G241C	SERPINE3_ENST00000400389.4_Missense_Mutation_p.G241C|SERPINE3_ENST00000524365.1_Missense_Mutation_p.G241C|MIR5693_ENST00000577722.1_RNA	NM_001101320.1	NP_001094790.1	A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	241					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(2)	2						GGACACTGCAGGCCATCAGGT	0.597																																																	0													35	47	43					13																	51922369		2039	4195	6234	SO:0001583	missense	0			AX772926	CCDS53870.1	13q14.3	2014-02-18			ENSG00000253309	ENSG00000253309		"Serine (or cysteine) peptidase inhibitors"	24774	protein-coding gene	gene with protein product						24172014	Standard	NM_001101320		Approved		uc001vfh.2	A8MV23	OTTHUMG00000016943	ENST00000521255.1:c.721G>T	13.37:g.51922369G>T	ENSP00000428316:p.Gly241Cys		B1V8P3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G241C	ENST00000521255.1	37	c.721	CCDS53870.1	13	.	.	.	.	.	.	.	.	.	.	G	13.80	2.343750	0.41498	.	.	ENSG00000253309	ENST00000524365;ENST00000521255;ENST00000400389	T;T;T	0.23348	1.91;1.91;1.91	5.04	4.11	0.48088	Serpin domain (3);	0.443707	0.17607	U	0.168222	T	0.37919	0.1021	L	0.42245	1.32	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.961	T	0.08146	-1.0736	10	0.87932	D	0	.	7.9374	0.29937	0.0965:0.1677:0.7358:0.0	.	241;241	A8MV23-2;A8MV23	.;SERP3_HUMAN	C	241	ENSP00000430755:G241C;ENSP00000428316:G241C;ENSP00000441468:G241C	ENSP00000441468:G241C	G	+	1	0	SERPINE3	50820370	0.998000	0.40836	0.066000	0.19879	0.531000	0.34715	4.330000	0.59266	2.640000	0.89533	0.655000	0.94253	GGC	SERPINE3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000253309		0.597	SERPINE3-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SERPINE3	HGNC	protein_coding	OTTHUMT00000045021.2		0	20	0	G	NM_001101320		51922369	1			no_errors	ENST00000521255	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.008	T	T	51922369	G	T	51922369	3	4	45	1	0	0	0	0	1	0	0	0	14158	1000	35	3	735	3	SERPINE3	13	51922369	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		51922369	63247509	184	11022											
DIS3	22894	genome.wustl.edu	37	chr13	73336070	73336070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaaaataccttctaatgGgtgaagtaaaatgtgtgtat	16	12	10	3	0	1	1	0	1	1	0	1	2	1	2	1	2	1	2	1	2	9	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:73336070G>T	ENST00000377767.4	-	17	2433	c.2333C>A	c.(2332-2334)cCc>cAc	p.P778H	DIS3_ENST00000545453.1_Missense_Mutation_p.P616H|DIS3_ENST00000377780.4_Missense_Mutation_p.P748H	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	778					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.P778H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CCTTCTAATGGGTGAAGTAAA	0.328										Multiple Myeloma(4;0.011)																																							1	Substitution - Missense(1)	endometrium(1)											67	66	66					13																	73336070		2203	4299	6502	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.2333C>A	13.37:g.73336070G>T	ENSP00000366997:p.Pro778His		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	smart_PIN_dom	p.P778H	ENST00000377767.4	37	c.2333	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478849	0.84747	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.81163	-1.46;-1.46;-1.46	5.69	5.69	0.88448	Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97498	1.0058	10	0.87932	D	0	.	19.809	0.96540	0.0:0.0:1.0:0.0	.	748;778	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	H	778;748;616	ENSP00000366997:P778H;ENSP00000367011:P748H;ENSP00000440058:P616H	ENSP00000366997:P778H	P	-	2	0	DIS3	72234071	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.760000	0.98935	2.676000	0.91093	0.561000	0.74099	CCC	DIS3	-	NULL	ENSG00000083520		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2		0	15	0	G	NM_014953		73336070	-1			no_errors	ENST00000377767	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	73336070	G	T	73336070	3	4	45	1	0	0	0	0	1	0	0	0	4549	1232	43	3	563	3	DIS3	13	73336070	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	21413701	73336070	41833808	185	11023											
COMMD6	170622	genome.wustl.edu	37	chr13	76104340	76104340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcactgcaacgtaaggataCttaagagatctgcaagtgtc	14	10	9	8	1	2	1	1	0	1	1	3	3	2	2	0	1	4	3	0	1	5	3	rs1063483		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:76104340C>T	ENST00000377615.3	-	4	281	c.117G>A	c.(115-117)aaG>aaA	p.K39K	COMMD6_ENST00000377619.5_Silent_p.K54K|COMMD6_ENST00000406936.3_Silent_p.K39K|COMMD6_ENST00000355801.4_Silent_p.K39K|COMMD6_ENST00000460675.1_5'UTR			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	39	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CGTAAGGATACTTAAGAGATC	0.388																																																	0													125	112	116					13																	76104340		2203	4300	6503	SO:0001819	synonymous_variant	0			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.117G>A	13.37:g.76104340C>T			A6NF28|B7ZLN0|Q5TBK4	Silent	SNP	pfam_HCaRG	p.K39	ENST00000377615.3	37	c.117	CCDS9451.1	13																																																																																			COMMD6	-	pfam_HCaRG	ENSG00000188243		0.388	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD6	HGNC	protein_coding	OTTHUMT00000045288.4		0	13	0	C	XM_085023		76104340	-1			no_errors	ENST00000355801	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.992	T	T	76104340	C	T	76104340	2	4	45	1	0	0	0	0	0	0	0	1	3727	564	20	3		3	COMMD6	13	76104340	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2768270	76104340	39065538	186	11024											
NALCN	259232	genome.wustl.edu	37	chr13	102029402	102029402	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactatatcagcaatttcAaacacctacaaattaaaaga	20	10	2	9	0	3	1	3	0	0	1	3	1	3	1	1	0	4	1	1	0	9	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:102029402A>G	ENST00000251127.6	-	5	462	c.381T>C	c.(379-381)ttT>ttC	p.F127F	NALCN_ENST00000376196.3_Silent_p.F127F|NALCN_ENST00000376200.5_Silent_p.F127F|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	127					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGCAATTTCAAACACCTACA	0.408																																																	0													55	55	55					13																	102029402		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.381T>C	13.37:g.102029402A>G			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.F127	ENST00000251127.6	37	c.381	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.408	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2		0	13	0	A	NM_052867		102029402	-1			no_errors	ENST00000251127	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	G	G	102029402	A	G	102029402	2	3	45	1	0	0	0	0	0	0	0	1	10186	127	5	4		4	NALCN	13	102029402	Silent	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	25925062	102029402	13140476	187	11025											
TMCO3	55002	genome.wustl.edu	37	chr13	114188437	114188437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcggtttttcttttatGtcttgttataaagaagtatc	9	18	9	5	2	2	1	0	0	2	1	3	1	2	1	0	2	1	3	0	2	6	8	rs200365797		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr13:114188437G>T	ENST00000434316.2	+	9	1780	c.1421G>T	c.(1420-1422)tGt>tTt	p.C474F	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	474						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TTTCTTTTATGTCTTGTTATA	0.408																																																	0													152	153	152					13																	114188437		2203	4300	6503	SO:0001583	missense	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1421G>T	13.37:g.114188437G>T	ENSP00000389399:p.Cys474Phe		Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.C474F	ENST00000434316.2	37	c.1421	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385562	0.25031	.	.	ENSG00000150403	ENST00000434316	T	0.14022	2.54	4.75	4.75	0.60458	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	L	0.47078	1.49	0.80722	D	1	B;P	0.48350	0.328;0.909	B;B	0.40506	0.194;0.331	T	0.03184	-1.1063	10	0.39692	T	0.17	-0.1465	17.8175	0.88639	0.0:0.0:1.0:0.0	.	474;474	Q6UWJ1;Q6UWJ1-2	TMCO3_HUMAN;.	F	474	ENSP00000389399:C474F	ENSP00000389399:C474F	C	+	2	0	TMCO3	113236438	1.000000	0.71417	0.939000	0.37840	0.019000	0.09904	8.392000	0.90180	2.195000	0.70347	0.555000	0.69702	TGT	TMCO3	-	pfam_Cation/H_exchanger	ENSG00000150403		0.408	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3		0	20	0	G	NM_017905		114188437	1			no_errors	ENST00000434316	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	114188437	G	T	114188437	3	4	45	1	0	0	0	0	1	0	0	0	16044	1377	48	3	1451	3	TMCO3	13	114188437	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	12159035	114188437	981441	188	11026											
PRKD1	5587	genome.wustl.edu	37	chr14	30066913	30066913	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacccaccactgacctccGgaaagacttctctccaatga	11	8	7	15	1	1	3	0	2	1	1	4	4	3	4	5	2	1	1	5	2	3	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:30066913G>T	ENST00000331968.5	-	16	2447	c.2218C>A	c.(2218-2220)Cgg>Agg	p.R740R	PRKD1_ENST00000415220.2_Silent_p.R748R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACTGACCTCCGGAAAGACTTC	0.483																																																	0													69	71	70					14																	30066913		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2218C>A	14.37:g.30066913G>T			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R740	ENST00000331968.5	37	c.2218	CCDS9637.1	14																																																																																			PRKD1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184304		0.483	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2		0	12	0	G	NM_002742		30066913	-1			no_errors	ENST00000331968	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T	T	30066913	G	T	30066913	2	4	45	1	0	0	0	0	0	0	0	1	12560	1115	39	2		2	PRKD1	14	30066913	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		30066913	77282627	189	11027											
AP4S1	11154	genome.wustl.edu	37	chr14	31554030	31554030	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggagccccagcagacttGcttttctccagacagttcat	8	11	8	14	0	2	2	1	0	1	2	3	3	2	3	4	1	3	3	4	1	0	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:31554030G>T	ENST00000542754.2	+	5	699				AP4S1_ENST00000216366.4_Missense_Mutation_p.C141F|AP4S1_ENST00000334725.4_3'UTR|AP4S1_ENST00000313566.6_Intron|AP4S1_ENST00000554345.1_Missense_Mutation_p.C117F|AP4S1_ENST00000554609.1_Intron	NM_001128126.2|NM_001254728.1	NP_001121598.1|NP_001241657.1	Q9Y587	AP4S1_HUMAN	adaptor-related protein complex 4, sigma 1 subunit							coated pit (GO:0005905)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			lung(1)	1	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.221)	GBM - Glioblastoma multiforme(265;0.00553)		CAGCAGACTTGCTTTTCTCCA	0.438																																					Pancreas(128;620 2365 4508 44145)												0													74	76	75					14																	31554030		2203	4300	6503	SO:0001627	intron_variant	0			AB030654	CCDS9642.1, CCDS45093.1, CCDS58309.1, CCDS58310.1	14q12	2012-06-29			ENSG00000100478	ENSG00000100478			575	protein-coding gene	gene with protein product		607243				10436028, 21620353	Standard	NM_007077		Approved	CLA20, AP47B, SPG52	uc001wqw.4	Q9Y587	OTTHUMG00000140202	ENST00000542754.2:c.306+4240G>T	14.37:g.31554030G>T			G3V2N8|Q6IAQ4|Q86U36|Q9BVE7	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.C141F	ENST00000542754.2	37	c.422	CCDS45093.1	14	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184710	0.38609	.	.	ENSG00000100478	ENST00000216366;ENST00000554345	.	.	.	4.05	2.07	0.26955	.	6.477130	0.00718	N	0.000868	T	0.36908	0.0984	.	.	.	0.09310	N	0.999999	P;P	0.50528	0.828;0.936	B;P	0.44990	0.371;0.466	T	0.36648	-0.9739	8	0.33940	T	0.23	.	10.515	0.44885	0.0:0.4249:0.5751:0.0	.	117;141	G3V2N8;Q9Y587-2	.;.	F	141;117	.	ENSP00000216366:C141F	C	+	2	0	AP4S1	30623781	0.108000	0.22018	0.004000	0.12327	0.128000	0.20619	1.182000	0.32029	0.572000	0.29383	0.655000	0.94253	TGC	AP4S1	-	pirsf_AP_complex_ssu	ENSG00000100478		0.438	AP4S1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AP4S1	HGNC	protein_coding	OTTHUMT00000409723.1		0	22	0	G			31554030	1			no_errors	ENST00000216366	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.005	T	T	31554030	G	T	31554030	1	4	45	0	1	0	0	0	0	0	0	0	754	1319	46	3		3	AP4S1	14	31554030	Intron	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1487117	31554030	75795510	190	11028											
FANCM	57697	genome.wustl.edu	37	chr14	45668128	45668128	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttcatctgtgaaaaggAtggctaacaggtatgtctgt	11	14	11	5	0	3	1	1	1	2	0	3	2	3	2	0	3	1	3	0	3	4	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:45668128A>T	ENST00000267430.5	+	22	6083	c.5998A>T	c.(5998-6000)Atg>Ttg	p.M2000L	FANCM_ENST00000542564.2_Missense_Mutation_p.M1974L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2000	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGTGAAAAGGATGGCTAACAG	0.279								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													38	42	40					14																	45668128		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5998A>T	14.37:g.45668128A>T	ENSP00000267430:p.Met2000Leu		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M2000L	ENST00000267430.5	37	c.5998	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.40|17.40	3.378869|3.378869	0.61735|0.61735	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.06294	.|3.32;3.32;3.32	5.58|5.58	5.58|5.58	0.84498|0.84498	.|RuvA domain 2-like (1);	.|0.049370	.|0.85682	.|D	.|0.000000	T|T	0.17746|0.17746	0.0426|0.0426	L|L	0.53249|0.53249	1.67|1.67	0.32908|0.32908	D|D	0.514139|0.514139	.|D;D	.|0.64830	.|0.994;0.991	.|D;P	.|0.70716	.|0.97;0.82	T|T	0.10497|0.10497	-1.0627|-1.0627	5|10	.|0.39692	.|T	.|0.17	.|.	10.6202|10.6202	0.45476|0.45476	0.9242:0.0:0.0758:0.0|0.9242:0.0:0.0758:0.0	.|.	.|1974;2000	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	V|L	967|2000;1974;1516	.|ENSP00000267430:M2000L;ENSP00000442493:M1974L;ENSP00000452033:M1516L	.|ENSP00000267430:M2000L	D|M	+|+	2|1	0|0	FANCM|FANCM	44737878|44737878	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.623000|3.623000	0.54224|0.54224	2.111000|2.111000	0.64477|0.64477	0.460000|0.460000	0.39030|0.39030	GAT|ATG	FANCM	-	superfamily_RuvA_2-like	ENSG00000187790		0.279	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	9	0	A	XM_048128		45668128	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	64.15	19	34	SNP	1.000	T	T	45668128	A	T	45668128	3	4	45	1	0	0	0	0	1	0	0	0	5693	333	12	5	6084	5	FANCM	14	45668128	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	14114098	45668128	61681412	191	11029											
ZBTB25	7597	genome.wustl.edu	37	chr14	64957115	64957115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcatcttgaaatagttaGaaaaagcagcaagcactgct	17	10	7	7	0	2	2	1	1	1	1	2	2	2	2	0	0	4	5	0	0	7	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:64957115G>T	ENST00000608382.1	-	2	328	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	ZBTB25_ENST00000555220.1_Missense_Mutation_p.S46Y|ZBTB25_ENST00000555424.1_Missense_Mutation_p.S46Y|ZBTB25_ENST00000394715.1_Missense_Mutation_p.S46Y	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GAAATAGTTAGAAAAAGCAGC	0.328																																																	0													66	68	67					14																	64957115		2203	4300	6503	SO:0001583	missense	0			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13112	protein-coding gene	gene with protein product		194541	"zinc finger protein 46 (KUP)", "chromosome 14 open reading frame 51"	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.137C>A	14.37:g.64957115G>T	ENSP00000476746:p.Ser46Tyr		B3KUX6|Q8IYH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S46Y	ENST00000608382.1	37	c.137	CCDS9765.1	14	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685831	0.88639	.	.	ENSG00000089775	ENST00000555220;ENST00000555424;ENST00000261683;ENST00000394715	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	5.39	5.39	0.77823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.95765	0.8622	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.97145	0.9827	10	0.87932	D	0	-18.4104	19.5016	0.95097	0.0:0.0:1.0:0.0	.	46;46	P24278;G3V2K3	ZBT25_HUMAN;.	Y	46	ENSP00000450718:S46Y;ENSP00000451046:S46Y;ENSP00000261683:S46Y;ENSP00000378204:S46Y	ENSP00000261683:S46Y	S	-	2	0	ZBTB25	64026868	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.717000	0.98755	2.693000	0.91896	0.313000	0.20887	TCT	ZBTB25	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000089775		0.328	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB25	HGNC	protein_coding	OTTHUMT00000280649.2		0	11	0	G	NM_006977		64957115	-1			no_errors	ENST00000394715	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	64957115	G	T	64957115	3	4	45	1	0	0	0	0	1	0	0	0	17580	942	33	3	1178	3	ZBTB25	14	64957115	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	19288987	64957115	42392425	192	11030											
DCAF4	26094	genome.wustl.edu	37	chr14	73406569	73406569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggtgatgacgagtctcCgtcaacctcgtctggcacag	8	8	11	14	4	3	2	1	2	2	0	5	3	3	2	3	2	1	1	3	2	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:73406569C>T	ENST00000358377.2	+	3	372	c.152C>T	c.(151-153)cCg>cTg	p.P51L	DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.P51L|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000353777.3_Missense_Mutation_p.P51L|DCAF4_ENST00000555042.1_Missense_Mutation_p.P51L	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	51					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GACGAGTCTCCGTCAACCTCG	0.622																																																	0													39	32	34					14																	73406569		2203	4300	6503	SO:0001583	missense	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.152C>T	14.37:g.73406569C>T	ENSP00000351147:p.Pro51Leu		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P51L	ENST00000358377.2	37	c.152	CCDS9809.1	14	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531741	0.64972	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000509153;ENST00000555042	T;T;T;T	0.70164	0.49;-0.46;0.35;0.1	5.01	4.12	0.48240	.	0.378699	0.30244	N	0.010066	T	0.69024	0.3065	L	0.33485	1.01	0.27548	N	0.950571	D;D;D;P;D	0.76494	0.999;0.999;0.999;0.886;0.999	P;D;D;B;P	0.68353	0.832;0.919;0.957;0.267;0.908	T	0.60707	-0.7210	10	0.72032	D	0.01	.	8.6337	0.33935	0.0:0.8994:0.0:0.1006	.	51;51;51;51;51	B4DUT6;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;DCAF4_HUMAN	L	51	ENSP00000351147:P51L;ENSP00000345176:P51L;ENSP00000426178:P51L;ENSP00000452131:P51L	ENSP00000345176:P51L	P	+	2	0	DCAF4	72476322	0.037000	0.19845	0.155000	0.22561	0.031000	0.12232	1.889000	0.39718	2.765000	0.95021	0.655000	0.94253	CCG	DCAF4	-	NULL	ENSG00000119599		0.622	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1		0	13	0	C	NM_015604		73406569	1			no_errors	ENST00000358377	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.037	T	T	73406569	C	T	73406569	3	4	45	1	0	0	0	0	1	0	0	0	4279	652	23	1	158	1	DCAF4	14	73406569	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	8449454	73406569	33942971	193	11031											
CCDC88C	440193	genome.wustl.edu	37	chr14	91773422	91773422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccggtccttcactcggagaAgctccatggtggcttcctta	6	11	10	14	2	1	1	1	0	0	1	5	2	4	1	4	4	1	2	4	4	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:91773422A>T	ENST00000389857.6	-	18	3241	c.3155T>A	c.(3154-3156)cTt>cAt	p.L1052H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1052					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)	p.L1052R(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACTCGGAGAAGCTCCATGGT	0.622																																																	1	Substitution - Missense(1)	NS(1)											34	39	37					14																	91773422		1973	4149	6122	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3155T>A	14.37:g.91773422A>T	ENSP00000374507:p.Leu1052His		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.L1052H	ENST00000389857.6	37	c.3155	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622456	0.87460	.	.	ENSG00000015133	ENST00000389857	T	0.19250	2.16	4.94	4.94	0.65067	.	0.000000	0.38272	U	0.001753	T	0.49012	0.1532	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55811	-0.8082	10	0.87932	D	0	-13.443	14.6086	0.68498	1.0:0.0:0.0:0.0	.	1052	Q9P219	DAPLE_HUMAN	H	1052	ENSP00000374507:L1052H	ENSP00000374507:L1052H	L	-	2	0	CCDC88C	90843175	1.000000	0.71417	0.977000	0.42913	0.920000	0.55202	7.294000	0.78760	1.857000	0.53885	0.459000	0.35465	CTT	CCDC88C	-	NULL	ENSG00000015133		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0	11	0	A	XM_029353		91773422	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	91773422	A	T	91773422	3	4	45	1	0	0	0	0	1	0	0	0	2872	72	3	5	2983	5	CCDC88C	14	91773422	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	18366853	91773422	15576118	194	11032											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103433470	103433470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagctcatcctccagctgtCtattttgagctgtgagttta	7	15	9	10	0	2	2	1	2	1	0	4	2	4	2	2	0	3	5	2	0	2	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr14:103433470C>T	ENST00000361246.2	-	17	2672	c.2384G>A	c.(2383-2385)aGa>aAa	p.R795K		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCCAGCTGTCTATTTTGAGC	0.478																																																	0													71	66	68					14																	103433470		2203	4300	6503	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2384G>A	14.37:g.103433470C>T	ENSP00000355237:p.Arg795Lys			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R795K	ENST00000361246.2	37	c.2384	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851420	0.71719	.	.	ENSG00000198752	ENST00000361246	T	0.44083	0.93	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.60845	1.875	0.80722	D	1	B	0.17852	0.024	B	0.16289	0.015	T	0.25222	-1.0138	10	0.33141	T	0.24	.	19.3545	0.94407	0.0:1.0:0.0:0.0	.	795	Q9Y5S2	MRCKB_HUMAN	K	795	ENSP00000355237:R795K	ENSP00000355237:R795K	R	-	2	0	CDC42BPB	102503223	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.750000	0.85110	2.668000	0.90789	0.655000	0.94253	AGA	CDC42BPB	-	NULL	ENSG00000198752		0.478	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1		0	8	0	C	NM_006035		103433470	-1			no_errors	ENST00000361246	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	103433470	C	T	103433470	3	4	45	1	0	0	0	0	1	0	0	0	3080	913	32	3	2835	3	CDC42BPB	14	103433470	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	11660048	103433470	3916070	195	11033											
RAD51	5888	genome.wustl.edu	37	chr15	40993374	40993374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaatattaagggaattaGtgaagccaaagctgataaaa	21	9	8	3	0	0	2	0	2	0	0	0	3	0	3	1	1	2	1	1	1	11	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:40993374G>T	ENST00000267868.3	+	3	468	c.200G>T	c.(199-201)aGt>aTt	p.S67I	RAD51_ENST00000423169.2_Missense_Mutation_p.S67I|RAD51_ENST00000532743.1_Missense_Mutation_p.S67I|RAD51_ENST00000557850.1_Missense_Mutation_p.S67I|RAD51_ENST00000382643.3_Missense_Mutation_p.S67I	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	67	HhH.				ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S67I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AAGGGAATTAGTGAAGCCAAA	0.403								Homologous recombination																																									1	Substitution - Missense(1)	lung(1)											123	127	126					15																	40993374		2203	4300	6503	SO:0001583	missense	0			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.200G>T	15.37:g.40993374G>T	ENSP00000267868:p.Ser67Ile		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	p.S67I	ENST00000267868.3	37	c.200	CCDS10062.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.382792	0.95967	.	.	ENSG00000051180	ENST00000527860;ENST00000423169;ENST00000382642;ENST00000267868;ENST00000532743;ENST00000382643;ENST00000526763	T;T;T;T;T;T	0.60040	0.64;0.22;0.62;0.67;0.67;0.64	6.04	6.04	0.98038	DNA repair Rad51/transcription factor NusA, alpha-helical (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	H	0.98111	4.15	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.75484	0.986;0.963;0.916	D	0.90325	0.4347	10	0.87932	D	0	-18.1738	20.5948	0.99439	0.0:0.0:1.0:0.0	.	67;67;67	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	I	67	ENSP00000432759:S67I;ENSP00000406602:S67I;ENSP00000267868:S67I;ENSP00000433924:S67I;ENSP00000372088:S67I;ENSP00000431897:S67I	ENSP00000267868:S67I	S	+	2	0	RAD51	38780666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.709000	0.98729	2.873000	0.98535	0.563000	0.77884	AGT	RAD51	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DNA_recomb/repair_Rad51	ENSG00000051180		0.403	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RAD51	HGNC	protein_coding	OTTHUMT00000252358.1		0	8	0	G	NM_002875, NM_133487		40993374	1			no_errors	ENST00000382643	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	40993374	G	T	40993374	3	4	45	1	0	0	0	0	1	0	0	0	13030	1029	36	3	206	3	RAD51	15	40993374	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		40993374	61538018	196	11034											
SHC4	399694	genome.wustl.edu	37	chr15	49127098	49127098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccaagaggctctctgcCgccttcctgctcagcttgcc	5	12	8	16	1	2	1	1	0	1	1	4	1	3	1	5	1	5	3	5	1	2	4	rs141070519	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:49127098C>T	ENST00000332408.4	-	11	2033	c.1605G>A	c.(1603-1605)gcG>gcA	p.A535A	SHC4_ENST00000537958.1_Silent_p.A249A|SHC4_ENST00000396535.3_Silent_p.A292A	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	535	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GGCTCTCTGCCGCCTTCCTGC	0.552																																																	0								C		2,4392	4.2+/-10.8	0,2,2195	112	93	99		1605	-9.9	0.1	15	dbSNP_134	99	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	SHC4	NM_203349.3		0,4,6488	TT,TC,CC		0.0233,0.0455,0.0308		535/631	49127098	4,12980	2197	4295	6492	SO:0001819	synonymous_variant	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1605G>A	15.37:g.49127098C>T			Q6UXQ3|Q8IYW3	Silent	SNP	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.A535	ENST00000332408.4	37	c.1605	CCDS10130.1	15																																																																																			SHC4	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000185634		0.552	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	-	0	16	0	C	NM_203349		49127098	-1	tier1	rs141070519	no_errors	ENST00000332408	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.008	T	T	49127098	C	T	49127098	2	4	45	1	0	0	0	0	0	0	0	1	14318	639	23	1		1	SHC4	15	49127098	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	8133724	49127098	53404294	197	11035											
DMXL2	23312	genome.wustl.edu	37	chr15	51742484	51742484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctaccccccgagattaGgagttgctgtttgggtgcat	6	14	11	10	1	0	1	0	0	0	1	1	3	1	2	4	2	3	4	4	2	2	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:51742484G>T	ENST00000251076.5	-	42	9030	c.8743C>A	c.(8743-8745)Cta>Ata	p.L2915I	DMXL2_ENST00000543779.2_Missense_Mutation_p.L2916I|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2279I|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2915						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCCGAGATTAGGAGTTGCTGT	0.473																																																	0													147	132	137					15																	51742484		2196	4293	6489	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8743C>A	15.37:g.51742484G>T	ENSP00000251076:p.Leu2915Ile		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2916I	ENST00000251076.5	37	c.8746	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963327	0.18583	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.63096	-0.02;-0.02;-0.02	5.48	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.080681	0.51477	D	0.000092	T	0.65739	0.2720	L	0.48362	1.52	0.52099	D	0.999942	P;P;P;P	0.52061	0.884;0.775;0.95;0.88	B;P;P;P	0.56700	0.41;0.526;0.751;0.804	T	0.63184	-0.6694	10	0.37606	T	0.19	.	10.9035	0.47067	0.1444:0.0:0.8555:0.0	.	2916;2279;2915;2916	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	I	2915;2916;2279;481	ENSP00000251076:L2915I;ENSP00000441858:L2916I;ENSP00000400855:L2279I	ENSP00000251076:L2915I	L	-	1	2	DMXL2	49529776	0.991000	0.36638	0.263000	0.24496	0.532000	0.34746	1.881000	0.39638	2.554000	0.86153	0.655000	0.94253	CTA	DMXL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000104093		0.473	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0	11	0	G	NM_015263		51742484	-1			no_errors	ENST00000543779	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.996	T	T	51742484	G	T	51742484	3	4	45	1	0	0	0	0	1	0	0	0	4609	991	35	3	375	3	DMXL2	15	51742484	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2615386	51742484	50788908	198	11036											
UNC13C	440279	genome.wustl.edu	37	chr15	54305910	54305910	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagggcacgtcaatgctctCaagcactccatcgatgagat	11	8	10	12	3	2	1	2	1	1	1	5	4	3	1	1	1	2	3	1	1	2	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:54305910C>G	ENST00000260323.11	+	1	810	c.810C>G	c.(808-810)ctC>ctG	p.L270L	UNC13C_ENST00000545554.1_Silent_p.L270L|UNC13C_ENST00000537900.1_Silent_p.L270L	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	270					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.L270L(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAATGCTCTCAAGCACTCCA	0.458																																																	2	Substitution - coding silent(2)	breast(2)											98	96	96					15																	54305910		1982	4164	6146	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.810C>G	15.37:g.54305910C>G			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L270	ENST00000260323.11	37	c.810	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.458	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	13	0	C	NM_173166		54305910	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.992	G	G	54305910	C	G	54305910	2	3	45	1	0	0	0	0	0	0	0	1	17035	813	29	5		5	UNC13C	15	54305910	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2563426	54305910	48225482	199	11037											
RORA	6095	genome.wustl.edu	37	chr15	60803593	60803593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggtagaagctgctgaCggcggagtctgccttactcc	7	9	13	12	2	1	2	0	1	1	1	3	3	3	3	3	3	4	3	3	3	3	2	rs140905032	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:60803593C>T	ENST00000335670.6	-	5	752	c.652G>A	c.(652-654)Gtc>Atc	p.V218I	RORA_ENST00000560004.1_5'Flank|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.V251I|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559902.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.V163I|RORA_ENST00000309157.4_Missense_Mutation_p.V243I|RP11-219B17.1_ENST00000501579.2_RNA	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	218	Hinge.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						AAGCTGCTGACGGCGGAGTCT	0.532																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	193	147	162		727,751,652,487	5.9	1	15	dbSNP_134	162	0,8600		0,0,4300	yes	missense,missense,missense,missense	RORA	NM_002943.3,NM_134260.2,NM_134261.2,NM_134262.2	29,29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign	243/549,251/557,218/524,163/469	60803593	2,13004	2203	4300	6503	SO:0001583	missense	0			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.652G>A	15.37:g.60803593C>T	ENSP00000335087:p.Val218Ile		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.V251I	ENST00000335670.6	37	c.751	CCDS10177.1	15	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473842	0.63737	4.54E-4	0.0	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.94330	-3.36;-3.36;-3.4;-3.32	5.9	5.9	0.94986	.	0.106918	0.64402	D	0.000005	D	0.85340	0.5674	N	0.08118	0	0.80722	D	1	B;P;B;B	0.34562	0.224;0.457;0.152;0.017	B;B;B;B	0.22753	0.023;0.041;0.006;0.005	D	0.83803	0.0237	10	0.34782	T	0.22	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	218;243;251;163	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	I	218;163;243;251	ENSP00000335087:V218I;ENSP00000402971:V163I;ENSP00000309753:V243I;ENSP00000261523:V251I	ENSP00000261523:V251I	V	-	1	0	RORA	58590885	1.000000	0.71417	0.967000	0.41034	0.994000	0.84299	7.476000	0.81055	2.788000	0.95919	0.650000	0.86243	GTC	RORA	-	NULL	ENSG00000069667		0.532	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RORA	HGNC	protein_coding	OTTHUMT00000256142.2	-	0	10	0	C			60803593	-1	tier1	rs140905032	no_errors	ENST00000261523	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T	T	60803593	C	T	60803593	3	4	45	1	0	0	0	0	1	0	0	0	13573	536	19	1	947	1	RORA	15	60803593	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	6497683	60803593	41727799	200	11038											
TLN2	83660	genome.wustl.edu	37	chr15	63004130	63004130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatggtgcgccaggcgCgggttctggcccaagccaca	8	6	15	12	3	1	1	0	1	1	0	1	1	1	1	3	4	2	1	3	4	2	1	rs568266946		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:63004130C>T	ENST00000561311.1	+	21	2718	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W	TLN2_ENST00000306829.6_Missense_Mutation_p.R830W			Q9Y4G6	TLN2_HUMAN	talin 2	830					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCGCCAGGCGCGGGTTCTGGC	0.512																																																	0													47	46	47					15																	63004130		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2488C>T	15.37:g.63004130C>T	ENSP00000453508:p.Arg830Trp		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R830W	ENST00000561311.1	37	c.2488	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629714	0.67015	.	.	ENSG00000171914	ENST00000306829	T	0.71934	-0.61	5.73	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86075	0.1540	10	0.87932	D	0	-27.1325	16.2128	0.82178	0.1746:0.8253:0.0:0.0	.	830	Q9Y4G6	TLN2_HUMAN	W	830	ENSP00000303476:R830W	ENSP00000303476:R830W	R	+	1	2	TLN2	60791422	0.010000	0.17322	1.000000	0.80357	0.803000	0.45373	0.195000	0.17155	2.861000	0.98227	0.655000	0.94253	CGG	TLN2	-	NULL	ENSG00000171914		0.512	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	12	0	C			63004130	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.995	T	T	63004130	C	T	63004130	3	4	45	1	0	0	0	0	1	0	0	0	15995	759	27	1	2562	1	TLN2	15	63004130	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2200537	63004130	39527262	201	11039											
ETFA	2108	genome.wustl.edu	37	chr15	76588003	76588003	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggctgcagtaatggtatTtaaagtaatgggtgctaggg	10	13	15	3	0	0	0	0	0	0	0	0	0	0	0	0	4	2	6	0	4	6	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:76588003T>G	ENST00000557943.1	-	2	195	c.115A>C	c.(115-117)Aat>Cat	p.N39H	ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	39	Domain I. {ECO:0000269|PubMed:8962055}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GTAATGGTATTTAAAGTAATG	0.423																																																	0													107	97	100					15																	76588003		2197	4294	6491	SO:0001583	missense	0			J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"glutaric aciduria II"	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.115A>C	15.37:g.76588003T>G	ENSP00000452762:p.Asn39His		B4DT43|Q53XN3	Missense_Mutation	SNP	pfam_ETF_asu_C,pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a	p.N39H	ENST00000557943.1	37	c.115	CCDS32299.1	15	.	.	.	.	.	.	.	.	.	.	T	13.87	2.366861	0.41902	.	.	ENSG00000140374	ENST00000267950	D	0.86694	-2.16	5.26	4.12	0.48240	Electron transfer flavoprotein, alpha/beta-subunit, N-terminal (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.144445	0.64402	N	0.000009	T	0.81955	0.4932	L	0.33624	1.015	0.80722	D	1	P;P	0.35124	0.485;0.485	B;B	0.38921	0.285;0.285	T	0.79325	-0.1850	10	0.49607	T	0.09	-22.7856	11.5544	0.50739	0.0:0.0:0.1499:0.8501	.	39;39	Q53XN3;P13804	.;ETFA_HUMAN	H	39	ENSP00000267950:N39H	ENSP00000267950:N39H	N	-	1	0	ETFA	74375058	1.000000	0.71417	0.995000	0.50966	0.733000	0.41908	4.855000	0.62925	0.819000	0.34492	0.383000	0.25322	AAT	ETFA	-	pfam_ETF_a/b_N,smart_ETF_a/b_N,pirsf_ETF_a	ENSG00000140374		0.423	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFA	HGNC	protein_coding	OTTHUMT00000419302.2	-	0	17	0	T	NM_000126		76588003	-1	tier1	-	no_errors	ENST00000557943	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	G	G	76588003	T	G	76588003	3	3	45	1	0	0	0	0	1	0	0	0	5285	1841	64	4	930	4	ETFA	15	76588003	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	13583873	76588003	25943389	202	11040											
TBC1D2B	23102	genome.wustl.edu	37	chr15	78290609	78290609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggtcagctccagccGgactttctccaagtggtagg	7	9	12	13	2	2	0	1	0	1	0	5	1	3	1	3	4	3	3	3	4	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:78290609G>A	ENST00000300584.3	-	13	2784	c.2785C>T	c.(2785-2787)Cgg>Tgg	p.R929W	RP11-114H24.6_ENST00000562716.1_RNA|TBC1D2B_ENST00000409931.3_Silent_p.S911S|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	929							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGCTCCAGCCGGACTTTCTCC	0.622																																																	0													37	31	33					15																	78290609		2196	4291	6487	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2785C>T	15.37:g.78290609G>A	ENSP00000300584:p.Arg929Trp		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.R929W	ENST00000300584.3	37	c.2785	CCDS45314.1	15	.	.	.	.	.	.	.	.	.	.	g	14.03	2.413819	0.42817	.	.	ENSG00000167202	ENST00000300584	T	0.10668	2.85	4.48	3.54	0.40534	.	.	.	.	.	T	0.08044	0.0201	.	.	.	0.80722	D	1	P	0.38992	0.653	B	0.29353	0.101	T	0.27872	-1.0061	8	0.34782	T	0.22	.	12.5788	0.56380	0.0:0.0:0.8324:0.1676	.	929	Q9UPU7	TBD2B_HUMAN	W	929	ENSP00000300584:R929W	ENSP00000300584:R929W	R	-	1	2	TBC1D2B	76077664	1.000000	0.71417	0.997000	0.53966	0.262000	0.26303	4.683000	0.61679	0.823000	0.34589	0.479000	0.44913	CGG	TBC1D2B	-	NULL	ENSG00000167202		0.622	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3	-	0	19	0	G	NM_015079		78290609	-1	tier1	-	no_errors	ENST00000300584	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	A	A	78290609	G	A	78290609	3	1	45	1	0	0	0	0	1	0	0	0	15666	1115	39	1	110	1	TBC1D2B	15	78290609	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1702606	78290609	24240783	203	11041											
SLC28A1	9154	genome.wustl.edu	37	chr15	85486698	85486698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgaagtcctcacgaCgtttgccctctgtggatttg	7	12	11	11	2	2	2	1	1	1	1	3	4	3	3	2	1	2	2	2	1	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr15:85486698C>T	ENST00000286749.3	+	15	1694	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000538177.1_Missense_Mutation_p.T369M|SLC28A1_ENST00000394573.1_Missense_Mutation_p.T535M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.T535M			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	535					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GTCCTCACGACGTTTGCCCTC	0.552																																																	0													122	97	105					15																	85486698		2203	4299	6502	SO:0001583	missense	0			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1604C>T	15.37:g.85486698C>T	ENSP00000286749:p.Thr535Met		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.T535M	ENST00000286749.3	37	c.1604	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876629	0.51801	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	4.2	3.29	0.37713	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.91635	0.997;0.671;0.999	T	0.58567	-0.7614	10	0.87932	D	0	-12.4959	10.0909	0.42447	0.0:0.9006:0.0:0.0994	.	535;369;535	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	M	369;535;535;535	ENSP00000443752:T369M;ENSP00000444700:T535M;ENSP00000286749:T535M;ENSP00000378074:T535M	ENSP00000286749:T535M	T	+	2	0	SLC28A1	83287702	1.000000	0.71417	0.009000	0.14445	0.455000	0.32408	7.453000	0.80700	1.105000	0.41606	0.563000	0.77884	ACG	SLC28A1	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac	ENSG00000156222		0.552	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	-	0	27	0	C			85486698	1	tier1	-	no_errors	ENST00000286749	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.958	T	T	85486698	C	T	85486698	3	4	45	1	0	0	0	0	1	0	0	0	14576	536	19	1	1729	1	SLC28A1	15	85486698	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	7196089	85486698	17044694	204	11042											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1779535	1779535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtccaagatgcagcaGgtcggaggaaacagccagac	14	3	15	9	1	0	3	0	0	0	3	2	6	1	5	2	4	4	2	2	4	2	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:1779535G>A	ENST00000250894.4	+	4	715	c.558G>A	c.(556-558)caG>caA	p.Q186Q	MAPK8IP3_ENST00000356010.5_Silent_p.Q186Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	186					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGCAGCAGGTCGGAGGAA	0.687																																																	0													34	38	36					16																	1779535		2021	4180	6201	SO:0001819	synonymous_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.558G>A	16.37:g.1779535G>A			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.Q186	ENST00000250894.4	37	c.558	CCDS10442.2	16																																																																																			MAPK8IP3	-	pfam_JNK/Rab-associated_protein-1_N	ENSG00000138834		0.687	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0	24	0	G	NM_001040439		1779535	1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	silent	21.18	67	18	SNP	0.991	A	A	1779535	G	A	1779535	2	1	45	1	0	0	0	0	0	0	0	1	9324	991	35	3		3	MAPK8IP3	16	1779535	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		1779535	88575218	205	11043											
PRSS22	64063	genome.wustl.edu	37	chr16	2903947	2903947	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtcctgctccccgccaGtacagatggctgcagacttc	6	9	9	17	1	0	2	0	0	0	2	3	2	2	2	5	1	3	4	5	1	1	2	rs373102852		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:2903947G>T	ENST00000161006.3	-	5	701	c.636C>A	c.(634-636)taC>taA	p.Y212*	PRSS22_ENST00000574768.1_5'Flank|PRSS22_ENST00000571228.1_Nonsense_Mutation_p.Y102*	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	212	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTCCCCGCCAGTACAGATGGC	0.602																																																	0								G	stop/TYR	0,4396		0,0,2198	84	80	82		636	4.2	1	16		82	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	PRSS22	NM_022119.3		0,1,6497	TT,TG,GG		0.0116,0.0,0.0077		212/318	2903947	1,12995	2198	4300	6498	SO:0001587	stop_gained	0			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.636C>A	16.37:g.2903947G>T	ENSP00000161006:p.Tyr212*		O43342|Q6UXE0	Nonsense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.Y212*	ENST00000161006.3	37	c.636	CCDS10481.1	16	.	.	.	.	.	.	.	.	.	.	g	12.00	1.806345	0.31961	0.0	1.16E-4	ENSG00000005001	ENST00000161006	.	.	.	4.24	4.24	0.50183	.	0.000000	0.48286	D	0.000188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5622	0.68148	0.0:0.0:1.0:0.0	.	.	.	.	X	212	.	ENSP00000161006:Y212X	Y	-	3	2	PRSS22	2843948	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	3.610000	0.54125	2.099000	0.63709	0.306000	0.20318	TAC	PRSS22	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000005001		0.602	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS22	HGNC	protein_coding	OTTHUMT00000250943.1		0	39	0	G	NM_022119		2903947	-1			no_errors	ENST00000161006	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	2903947	G	T	2903947	4	4	45	1	0	0	0	0	0	1	0	0	12661	1024	36	3	325	3	PRSS22	16	2903947	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1124412	2903947	87450806	206	11044											
PAQR4	124222	genome.wustl.edu	37	chr16	3021712	3021712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccggggagtgggtctGggttcaggggctccaggctc	3	7	21	10	1	2	0	1	0	1	0	4	1	3	1	2	9	0	3	2	9	0	1	rs35149676	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:3021712G>A	ENST00000318782.8	+	3	1015	c.585G>A	c.(583-585)ctG>ctA	p.L195L	PAQR4_ENST00000576565.1_Silent_p.L128L|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Silent_p.L128L|PAQR4_ENST00000572687.1_Silent_p.L121L|PAQR4_ENST00000293978.8_Silent_p.L156L|PKMYT1_ENST00000571102.1_5'Flank	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	195						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GAGTGGGTCTGGGTTCAGGGG	0.687																																																	0													34	40	38					16																	3021712		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.585G>A	16.37:g.3021712G>A			A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	pfam_HlyIII-related	p.L195	ENST00000318782.8	37	c.585	CCDS10485.1	16																																																																																			PAQR4	-	pfam_HlyIII-related	ENSG00000162073		0.687	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR4	HGNC	protein_coding	OTTHUMT00000250966.1	-	0	46	0	G	NM_152341		3021712	1	tier1	-	no_errors	ENST00000318782	ensembl	human	known	74_37	silent	6.56	114	8	SNP	1.000	A	A	3021712	G	A	3021712	2	1	45	1	0	0	0	0	0	0	0	1	11476	1335	47	3		3	PAQR4	16	3021712	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	117765	3021712	87333041	207	11045											
ZNF263	10127	genome.wustl.edu	37	chr16	3336109	3336109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtaagagggccctctccagGgacacggtgcaggagagtta	11	6	15	9	1	1	2	0	0	1	2	2	4	1	3	2	4	1	3	2	4	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:3336109G>T	ENST00000219069.5	+	4	1605	c.729G>T	c.(727-729)agG>agT	p.R243S	ZNF263_ENST00000574253.1_Intron|ZNF263_ENST00000573578.1_3'UTR|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	243	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCCTCTCCAGGGACACGGTGC	0.542																																																	0													169	163	165					16																	3336109		2197	4300	6497	SO:0001583	missense	0			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.729G>T	16.37:g.3336109G>T	ENSP00000219069:p.Arg243Ser		B2R634|O43387|Q96H95	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R243S	ENST00000219069.5	37	c.729	CCDS10499.1	16	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899039	0.52227	.	.	ENSG00000006194	ENST00000219069	T	0.02656	4.21	6.07	5.1	0.69264	Krueppel-associated box (4);	0.092424	0.47455	N	0.000221	T	0.07593	0.0191	M	0.86740	2.835	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.02371	-1.1169	10	0.42905	T	0.14	.	12.9012	0.58126	0.0:0.0:0.8382:0.1618	.	243	O14978	ZN263_HUMAN	S	243	ENSP00000219069:R243S	ENSP00000219069:R243S	R	+	3	2	ZNF263	3276110	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.708000	0.25719	1.546000	0.49388	0.655000	0.94253	AGG	ZNF263	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000006194		0.542	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF263	HGNC	protein_coding	OTTHUMT00000251463.2		0	14	0	G			3336109	1			no_errors	ENST00000219069	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	3336109	G	T	3336109	3	4	45	1	0	0	0	0	1	0	0	0	17851	1223	43	3	743	3	ZNF263	16	3336109	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	314397	3336109	87018644	208	11046											
NAGPA	51172	genome.wustl.edu	37	chr16	5078127	5078127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtcaggcggctggcagcggGgttcgtgcacacacaccacg	8	5	15	13	4	1	0	1	0	0	0	2	0	1	0	1	5	2	4	1	5	0	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:5078127G>T	ENST00000312251.3	-	6	999	c.980C>A	c.(979-981)cCc>cAc	p.P327H	RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.P327H	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	327					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CTGGCAGCGGGGTTCGTGCAC	0.662																																																	0													22	23	23					16																	5078127		2193	4290	6483	SO:0001583	missense	0			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.980C>A	16.37:g.5078127G>T	ENSP00000310998:p.Pro327His		B2RAS1|Q96EJ8	Missense_Mutation	SNP	pfam_DUF2233,pfscan_EG-like_dom	p.P327H	ENST00000312251.3	37	c.980	CCDS10527.1	16	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805744	0.70682	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.31247	1.5;1.67	4.36	4.36	0.52297	.	0.140735	0.48767	D	0.000163	T	0.59432	0.2193	M	0.83118	2.625	0.36671	D	0.878522	D	0.89917	1.0	D	0.77557	0.99	T	0.72912	-0.4148	10	0.66056	D	0.02	-27.7491	16.908	0.86133	0.0:0.0:1.0:0.0	.	327	Q9UK23	NAGPA_HUMAN	H	327	ENSP00000310998:P327H;ENSP00000371381:P327H	ENSP00000310998:P327H	P	-	2	0	NAGPA	5018128	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	5.039000	0.64185	1.968000	0.57251	0.561000	0.74099	CCC	NAGPA	-	NULL	ENSG00000103174		0.662	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	HGNC	protein_coding	OTTHUMT00000207003.1		0	23	0	G	NM_016256		5078127	-1			no_errors	ENST00000312251	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.984	T	T	5078127	G	T	5078127	3	4	45	1	0	0	0	0	1	0	0	0	10182	1232	43	3	587	3	NAGPA	16	5078127	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1742018	5078127	85276626	209	11047											
ITGAX	3687	genome.wustl.edu	37	chr16	31392248	31392248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagaagtacaaggtcCacaaccccacccccctcatc	11	6	7	17	0	1	1	1	0	0	1	3	2	2	1	6	2	3	2	6	2	4	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:31392248C>G	ENST00000268296.4	+	29	3428	c.3307C>G	c.(3307-3309)Cac>Gac	p.H1103D	ITGAX_ENST00000562522.1_Missense_Mutation_p.H1103D	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1103					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GTACAAGGTCCACAACCCCAC	0.562																																																	0													141	102	115					16																	31392248		2197	4300	6497	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.3307C>G	16.37:g.31392248C>G	ENSP00000268296:p.His1103Asp		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H1103D	ENST00000268296.4	37	c.3307	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061283	0.19987	.	.	ENSG00000140678	ENST00000268296	T	0.44482	0.92	4.54	-3.51	0.04696	.	.	.	.	.	T	0.47358	0.1441	L	0.54323	1.7	0.09310	N	1	D;P	0.62365	0.991;0.955	P;P	0.53689	0.732;0.709	T	0.53450	-0.8437	9	0.66056	D	0.02	.	12.7207	0.57140	0.0:0.7566:0.0:0.2434	.	1103;288	P20702;Q8TES5	ITAX_HUMAN;.	D	1103	ENSP00000268296:H1103D	ENSP00000268296:H1103D	H	+	1	0	ITGAX	31299749	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.322000	0.08007	-0.432000	0.07297	0.591000	0.81541	CAC	ITGAX	-	NULL	ENSG00000140678		0.562	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	-	0	34	0	C	NM_000887		31392248	1	tier1	-	no_errors	ENST00000268296	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.000	G	G	31392248	C	G	31392248	3	3	45	1	0	0	0	0	1	0	0	0	7916	594	21	5	3421	5	ITGAX	16	31392248	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	26314121	31392248	58962505	210	11048											
CHD9	80205	genome.wustl.edu	37	chr16	53358004	53358004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaggaagtaagcaggcggGggagacggcctaaaagtgga	14	3	19	5	2	0	2	0	0	0	2	0	6	0	4	1	6	1	2	1	6	4	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:53358004G>A	ENST00000398510.3	+	38	7978	c.7891G>A	c.(7891-7893)Ggg>Agg	p.G2631R	CHD9_ENST00000447540.1_Missense_Mutation_p.G2616R|CHD9_ENST00000566029.1_Missense_Mutation_p.G2615R|CHD9_ENST00000564845.1_Missense_Mutation_p.G2615R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2631					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAGCAGGCGGGGGAGACGGCC	0.463																																																	0													95	97	96					16																	53358004		1898	4119	6017	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.7891G>A	16.37:g.53358004G>A	ENSP00000381522:p.Gly2631Arg		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G2631R	ENST00000398510.3	37	c.7891		16	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814574	0.70912	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.90504	-2.68	5.23	5.23	0.72850	.	0.117014	0.37955	N	0.001877	D	0.94745	0.8304	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;1.0;1.0	D;P;D;D	0.97110	0.999;0.892;0.999;1.0	D	0.93856	0.7149	10	0.41790	T	0.15	-9.5416	19.1688	0.93569	0.0:0.0:1.0:0.0	.	697;2616;2631;2615	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	R	2616;2615;697	ENSP00000396345:G2616R	ENSP00000381522:G2615R	G	+	1	0	CHD9	51915505	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.741000	0.98843	2.613000	0.88420	0.655000	0.94253	GGG	CHD9	-	NULL	ENSG00000177200		0.463	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	-	0	19	0	G	NM_025134		53358004	1	tier1	-	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	A	A	53358004	G	A	53358004	3	1	45	1	0	0	0	0	1	0	0	0	3339	1232	43	3	7993	3	CHD9	16	53358004	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	21965756	53358004	36996749	211	11049											
LPCAT2	54947	genome.wustl.edu	37	chr16	55608567	55608567	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggcagcattgacttcCgagagtatgtgattggcctg	9	12	13	7	1	0	4	0	3	0	1	1	5	1	4	2	2	1	3	2	2	1	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:55608567C>T	ENST00000262134.5	+	12	1424	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	414	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CATTGACTTCCGAGAGTATGT	0.448																																																	0													169	131	144					16																	55608567		2198	4300	6498	SO:0001587	stop_gained	0			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1240C>T	16.37:g.55608567C>T	ENSP00000262134:p.Arg414*		A3KBM1|Q6MZJ6|Q9NX23	Nonsense_Mutation	SNP	pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R414*	ENST00000262134.5	37	c.1240	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.602750	0.97697	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.84	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.8774	12.3155	0.54953	0.5722:0.4278:0.0:0.0	.	.	.	.	X	414	.	ENSP00000262134:R414X	R	+	1	2	LPCAT2	54166068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.870000	0.48451	1.463000	0.47967	0.655000	0.94253	CGA	LPCAT2	-	smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000087253		0.448	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	-	0	17	0	C	NM_017839		55608567	1	tier1	-	no_errors	ENST00000262134	ensembl	human	known	74_37	nonsense	31.82	45	21	SNP	1.000	T	T	55608567	C	T	55608567	4	4	45	1	0	0	0	0	0	1	0	0	8946	644	23	1	1286	1	LPCAT2	16	55608567	Nonsense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2250563	55608567	34746186	212	11050											
NLRC5	84166	genome.wustl.edu	37	chr16	57101700	57101700	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccagttccctgctgctgCagagcctcctgctgtccctc	4	11	9	17	0	0	1	0	0	0	1	4	1	3	1	5	0	6	5	5	0	0	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:57101700C>T	ENST00000262510.6	+	36	4684	c.4459C>T	c.(4459-4461)Cag>Tag	p.Q1487*	NLRC5_ENST00000539144.1_Nonsense_Mutation_p.Q1458*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.Q1458*|NLRC5_ENST00000436936.1_Nonsense_Mutation_p.Q1487*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1487					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCTGCTGCTGCAGAGCCTCCT	0.527																																																	0													169	144	153					16																	57101700		2198	4300	6498	SO:0001587	stop_gained	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4459C>T	16.37:g.57101700C>T	ENSP00000262510:p.Gln1487*		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.Q1487*	ENST00000262510.6	37	c.4459	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	40	8.171280	0.98688	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	.	.	.	3.86	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.7915	0.23701	0.2032:0.6005:0.1963:0.0	.	.	.	.	X	1487;1458;1487;1458	.	ENSP00000262510:Q1487X	Q	+	1	0	NLRC5	55659201	0.008000	0.16893	0.058000	0.19502	0.029000	0.11900	0.144000	0.16135	0.581000	0.29539	0.453000	0.30009	CAG	NLRC5	-	NULL	ENSG00000140853		0.527	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0	15	0	C	NM_032206		57101700	1			no_errors	ENST00000262510	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.057	T	T	57101700	C	T	57101700	4	4	45	1	0	0	0	0	0	1	0	0	10509	711	25	3	4593	3	NLRC5	16	57101700	Nonsense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	1493133	57101700	33253053	213	11051											
CNGB1	1258	genome.wustl.edu	37	chr16	57996893	57996893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacctgagccgggtcctcCgtgatgctgtgaacaggctg	7	9	14	11	2	0	3	0	3	0	0	2	3	2	3	4	2	4	3	4	2	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:57996893C>T	ENST00000251102.8	-	5	426	c.366G>A	c.(364-366)acG>acA	p.T122T	CNGB1_ENST00000564448.1_Silent_p.T122T|CNGB1_ENST00000311183.4_Silent_p.T122T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	122					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCGGGTCCTCCGTGATGCTGT	0.657																																					Colon(156;1293 1853 16336 28962 38659)												0													85	82	83					16																	57996893		2040	4193	6233	SO:0001819	synonymous_variant	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.366G>A	16.37:g.57996893C>T			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T122	ENST00000251102.8	37	c.366	CCDS42169.1	16																																																																																			CNGB1	-	NULL	ENSG00000070729		0.657	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	-	0	37	0	C	NM_001297		57996893	-1	tier1	-	no_errors	ENST00000251102	ensembl	human	known	74_37	silent	20.35	90	23	SNP	0.001	T	T	57996893	C	T	57996893	2	4	45	1	0	0	0	0	0	0	0	1	3607	639	23	1		1	CNGB1	16	57996893	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	895193	57996893	32357860	214	11052											
C16orf70	80262	genome.wustl.edu	37	chr16	67166782	67166782	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgtctttctcttttcagTtagactcatggactgaggct	7	16	9	9	0	4	2	2	1	2	1	5	4	4	3	0	2	0	2	0	2	1	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:67166782T>C	ENST00000219139.3	+	6	606	c.418T>C	c.(418-420)Tta>Cta	p.L140L	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.L140L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	140										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CTCTTTTCAGTTAGACTCATG	0.488																																																	0													172	158	163					16																	67166782		2200	4300	6500	SO:0001819	synonymous_variant	0			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 6"	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.418T>C	16.37:g.67166782T>C			Q9HA86	Silent	SNP	pfam_UPF0183	p.L140	ENST00000219139.3	37	c.418	CCDS10828.1	16																																																																																			C16orf70	-	pfam_UPF0183	ENSG00000125149		0.488	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	HGNC	protein_coding	OTTHUMT00000268829.2	-	0	28	0	T	NM_025187		67166782	1	tier1	-	no_errors	ENST00000219139	ensembl	human	known	74_37	silent	16.44	61	12	SNP	1.000	C	C	67166782	T	C	67166782	2	2	45	1	0	0	0	0	0	0	0	1	1834	1722	60	4		4	C16orf70	16	67166782	Silent	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	9169889	67166782	23187971	215	11053											
EXOC3L	283849	genome.wustl.edu	37	chr16	67219282	67219282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggagctccgcctgcagCgcctccaacaccaagcggta	9	5	10	17	3	0	0	0	0	0	0	2	1	2	1	6	2	5	3	6	2	3	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:67219282C>T	ENST00000314586.6	-	10	1848	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000563831.2_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	536					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCGCCTGCAGCGCCTCCAACA	0.652											OREG0023874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63	70	68					16																	67219282		2198	4300	6498	SO:0001819	synonymous_variant	0			AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"exocyst complex component 3-like"	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1608G>A	16.37:g.67219282C>T		1097	A8K7I9|Q8NAD2|Q8TEN2	Silent	SNP	pfam_Sec6	p.A536	ENST00000314586.6	37	c.1608	CCDS10832.1	16																																																																																			EXOC3L1	-	pfam_Sec6	ENSG00000179044		0.652	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L1	HGNC	protein_coding	OTTHUMT00000268827.2		0	8	0	C	NM_178516		67219282	-1			no_errors	ENST00000314586	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.414	T	T	67219282	C	T	67219282	2	4	45	1	0	0	0	0	0	0	0	1	5320	755	27	1		1	EXOC3L	16	67219282	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	52500	67219282	23135471	216	11054											
EDC4	23644	genome.wustl.edu	37	chr16	67913139	67913139	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccacactgtcctttcaGatggtacccatggagccggt	8	11	9	13	1	2	1	2	0	0	1	4	2	4	2	4	3	2	1	4	3	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr16:67913139G>T	ENST00000358933.5	+	13	1707		c.e13-1		EDC4_ENST00000574770.1_Intron|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGTCCTTTCAGATGGTACCCA	0.572																																																	0													92	92	92					16																	67913139		2198	4300	6498	SO:0001630	splice_region_variant	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1469-1G>T	16.37:g.67913139G>T			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Splice_Site	SNP	-	e13-1	ENST00000358933.5	37	c.1469-1	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304703	0.60305	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2159	0.98296	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EDC4	66470640	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	8.697000	0.91307	2.882000	0.98803	0.655000	0.94253	.	EDC4	-	-	ENSG00000038358		0.572	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0	39	0	G	NM_014329	Intron	67913139	1			no_errors	ENST00000358933	ensembl	human	known	74_37	splice_site	5.97	63	4	SNP	1.000	T	T	67913139	G	T	67913139	5	4	45	1	0	0	0	0	0	0	1	0	4922	956	33	3	1518	3	EDC4	16	67913139	Splice_Site	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	693857	67913139	22441614	217	11055											
PRPF8	10594	genome.wustl.edu	37	chr17	1563149	1563149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacttggagtcagccagCaatgagggccgggagacatt	11	8	13	9	1	1	2	1	1	0	1	1	4	1	3	2	3	3	1	2	3	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:1563149C>A	ENST00000572621.1	-	30	5197	c.4932G>T	c.(4930-4932)ttG>ttT	p.L1644F	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1644F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1644	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTCAGCCAGCAATGAGGGCC	0.502																																																	0													92	81	85					17																	1563149		2203	4300	6503	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4932G>T	17.37:g.1563149C>A	ENSP00000460348:p.Leu1644Phe		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.L1644F	ENST00000572621.1	37	c.4932	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	c	17.21	3.331720	0.60853	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.82433	-1.61	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	H	0.95151	3.63	0.80722	D	1	B	0.15473	0.013	B	0.21151	0.033	D	0.86285	0.1670	10	0.56958	D	0.05	-17.5305	16.1444	0.81555	0.134:0.866:0.0:0.0	.	1644	Q6P2Q9	PRP8_HUMAN	F	1644;171	ENSP00000304350:L1644F	ENSP00000304350:L1644F	L	-	3	2	PRPF8	1509899	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.510000	0.45468	2.882000	0.98803	0.655000	0.94253	TTG	PRPF8	-	NULL	ENSG00000174231		0.502	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	-	0	9	0	C			1563149	-1	tier1	-	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	A	A	1563149	C	A	1563149	3	1	45	1	0	0	0	0	1	0	0	0	12617	709	25	3	2127	3	PRPF8	17	1563149	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09		1563149	79632061	218	11056											
SERPINF1	5176	genome.wustl.edu	37	chr17	1680027	1680027	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagtcaccaagtccctgCaggagatgagtatgtctgaa	12	8	12	9	1	2	3	1	2	1	1	3	5	3	3	2	1	1	2	2	1	4	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:1680027C>T	ENST00000254722.4	+	7	1151	c.988C>T	c.(988-990)Cag>Tag	p.Q330*		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	330					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CAAGTCCCTGCAGGAGATGAG	0.552																																																	0													95	85	88					17																	1680027		2203	4300	6503	SO:0001587	stop_gained	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.988C>T	17.37:g.1680027C>T	ENSP00000254722:p.Gln330*		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Q330*	ENST00000254722.4	37	c.988	CCDS11012.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113172	0.77210	.	.	ENSG00000132386	ENST00000254722	.	.	.	5.58	4.53	0.55603	.	0.361974	0.33572	N	0.004771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.3273	0.87252	0.1612:0.8388:0.0:0.0	.	.	.	.	X	330	.	ENSP00000254722:Q330X	Q	+	1	0	SERPINF1	1626777	1.000000	0.71417	1.000000	0.80357	0.219000	0.24729	1.077000	0.30741	2.629000	0.89072	0.561000	0.74099	CAG	SERPINF1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000132386		0.552	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4		0	11	0	C	NM_002615		1680027	1			no_errors	ENST00000254722	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	0.969	T	T	1680027	C	T	1680027	4	4	45	1	0	0	0	0	0	1	0	0	14159	711	25	3	1010	3	SERPINF1	17	1680027	Nonsense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	116878	1680027	79515183	219	11057											
ANKFY1	51479	genome.wustl.edu	37	chr17	4071177	4071177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctccttggtcgagcattTatggcaaagaagacgtccgc	11	10	10	10	3	1	2	0	0	1	2	4	3	2	2	2	2	1	2	2	2	4	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:4071177T>C	ENST00000341657.4	-	25	3441	c.3406A>G	c.(3406-3408)Aaa>Gaa	p.K1136E	ANKFY1_ENST00000570535.1_Missense_Mutation_p.K1178E|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.K1137E	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1136					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCGAGCATTTATGGCAAAGA	0.478																																																	0													65	69	68					17																	4071177		1928	4140	6068	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3406A>G	17.37:g.4071177T>C	ENSP00000343362:p.Lys1136Glu		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.K1178E	ENST00000341657.4	37	c.3532		17	.	.	.	.	.	.	.	.	.	.	T	17.65	3.442199	0.63067	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	4.73	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	L	0.61218	1.895	0.80722	D	1	P;P;P;P	0.48503	0.89;0.865;0.837;0.911	B;P;B;P	0.45610	0.291;0.487;0.355;0.475	T	0.62728	-0.6793	9	0.44086	T	0.13	-19.0914	13.8471	0.63474	0.0:0.0:0.0:1.0	.	1078;1136;1137;1178	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	E	1137;1078	.	ENSP00000343362:K1137E	K	-	1	0	ANKFY1	4017926	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.793000	0.62474	2.122000	0.65172	0.460000	0.39030	AAA	ANKFY1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000185722		0.478	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1		0	13	0	T	NM_016376		4071177	-1			no_errors	ENST00000570535	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	C	C	4071177	T	C	4071177	3	2	45	1	0	0	0	0	1	0	0	0	626	1763	61	4	107	4	ANKFY1	17	4071177	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	2391150	4071177	77124033	220	11058											
PSMB6	5694	genome.wustl.edu	37	chr17	4701691	4701691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccagatacccaaattcGccgttgccactttaccaccc	11	8	6	16	2	0	2	0	0	0	2	1	3	0	2	6	0	3	1	6	0	3	5	rs143389701		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:4701691G>T	ENST00000270586.3	+	6	745	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	232					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						ACCCAAATTCGCCGTTGCCAC	0.502																																																	0													117	108	111					17																	4701691		2203	4300	6503	SO:0001583	missense	0			BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"Proteasome (prosome, macropain) subunits"	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.694G>T	17.37:g.4701691G>T	ENSP00000270586:p.Ala232Ser		Q96J55	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.A232S	ENST00000270586.3	37	c.694	CCDS11056.1	17	.	.	.	.	.	.	.	.	.	.	G	3.994	-0.003984	0.07773	.	.	ENSG00000142507	ENST00000270586	T	0.29655	1.56	5.68	-4.5	0.03493	.	0.416650	0.26623	N	0.023344	T	0.06005	0.0156	N	0.01874	-0.695	0.29436	N	0.859533	B	0.02656	0.0	B	0.04013	0.001	T	0.27938	-1.0059	10	0.07482	T	0.82	-17.4018	0.9809	0.01436	0.2551:0.2003:0.3267:0.2179	.	232	P28072	PSB6_HUMAN	S	232	ENSP00000270586:A232S	ENSP00000270586:A232S	A	+	1	0	PSMB6	4648649	1.000000	0.71417	0.966000	0.40874	0.846000	0.48090	0.684000	0.25364	-0.431000	0.07307	-0.290000	0.09829	GCC	PSMB6	-	NULL	ENSG00000142507		0.502	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB6	HGNC	protein_coding	OTTHUMT00000207559.2		0	8	0	G	NM_002798		4701691	1			no_errors	ENST00000270586	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.984	T	T	4701691	G	T	4701691	3	4	45	1	0	0	0	0	1	0	0	0	12723	1087	38	2	716	2	PSMB6	17	4701691	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	630514	4701691	76493519	221	11059											
TEKT1	83659	genome.wustl.edu	37	chr17	6704115	6704115	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcattagcctatattGtgcgacatcacgacacagct	10	12	6	13	2	2	0	2	0	0	0	3	2	3	0	2	0	3	1	2	0	3	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:6704115G>A	ENST00000338694.2	-	7	1129	c.1000C>T	c.(1000-1002)Caa>Taa	p.Q334*	TEKT1_ENST00000535086.1_Nonsense_Mutation_p.Q188*	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	334						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				AGCCTATATTGTGCGACATCA	0.567											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													227	203	211					17																	6704115		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.1000C>T	17.37:g.6704115G>A	ENSP00000341346:p.Gln334*	636	D3DTM7	Nonsense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.Q334*	ENST00000338694.2	37	c.1000	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138014	0.77775	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.0364	0.89305	0.0:0.0:1.0:0.0	.	.	.	.	X	334;188	.	ENSP00000341346:Q334X	Q	-	1	0	TEKT1	6644839	1.000000	0.71417	0.788000	0.31933	0.005000	0.04900	6.955000	0.76007	2.941000	0.99782	0.655000	0.94253	CAA	TEKT1	-	pfam_Tektin,prints_Tektin	ENSG00000167858		0.567	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	-	0	31	0	G	NM_053285		6704115	-1	tier1	-	no_errors	ENST00000338694	ensembl	human	known	74_37	nonsense	45.28	29	24	SNP	0.992	A	A	6704115	G	A	6704115	4	1	45	1	0	0	0	0	0	1	0	0	15799	1386	48	3	264	3	TEKT1	17	6704115	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2002424	6704115	74491095	222	11060											
TP53	7157	genome.wustl.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	GRCh37	CM971506	TP53	M	rs121913344						120	106	110					17																	7577022		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R306*	ENST00000269305.4	37	c.916	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA	TP53	-	NULL	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	30	0	G	NM_000546		7577022	-1	tier1	rs121913344	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	46.67	24	21	SNP	1.000	A	A	7577022	G	A	7577022	4	1	45	1	0	0	0	0	0	1	0	0	16429	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	872907	7577022	73618188	223	11061											
RCVRN	5957	genome.wustl.edu	37	chr17	9808122	9808122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggagactgaccatgaCgatctccagcacttcattct	11	9	10	11	1	3	4	1	2	2	2	4	6	3	4	2	2	1	1	2	2	0	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:9808122C>T	ENST00000226193.5	-	1	816	c.376G>A	c.(376-378)Gtc>Atc	p.V126I		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	126	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						CTGACCATGACGATCTCCAGC	0.642																																																	0													124	102	109					17																	9808122		2203	4300	6503	SO:0001583	missense	0			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"EF-hand domain containing"	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.376G>A	17.37:g.9808122C>T	ENSP00000226193:p.Val126Ile		Q53XL0	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.V126I	ENST00000226193.5	37	c.376	CCDS11151.1	17	.	.	.	.	.	.	.	.	.	.	C	8.226	0.803586	0.16467	.	.	ENSG00000109047	ENST00000226193	T	0.66280	-0.2	4.86	1.66	0.24008	EF-hand-like domain (1);	0.252761	0.39909	N	0.001225	T	0.41282	0.1152	N	0.21508	0.67	0.80722	D	1	B	0.11235	0.004	B	0.04013	0.001	T	0.11542	-1.0583	10	0.26408	T	0.33	.	7.0455	0.25042	0.0:0.6107:0.0:0.3893	.	126	P35243	RECO_HUMAN	I	126	ENSP00000226193:V126I	ENSP00000226193:V126I	V	-	1	0	RCVRN	9748847	0.052000	0.20516	0.997000	0.53966	0.306000	0.27790	0.015000	0.13355	0.554000	0.29061	0.655000	0.94253	GTC	RCVRN	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000109047		0.642	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2	-	0	9	0	C	NM_002903		9808122	-1	tier1	-	no_errors	ENST00000226193	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	T	T	9808122	C	T	9808122	3	4	45	1	0	0	0	0	1	0	0	0	13231	536	19	1	238	1	RCVRN	17	9808122	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2231100	9808122	71387088	224	11062											
LASP1	3927	genome.wustl.edu	37	chr17	37074987	37074987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggacggtggagcgcaccGgcgacacggggatgctgccg	7	3	19	12	7	0	0	0	0	0	0	0	4	0	3	2	6	3	2	2	6	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:37074987G>A	ENST00000318008.6	+	7	1073	c.742G>A	c.(742-744)Ggc>Agc	p.G248S	RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000435347.3_Missense_Mutation_p.G248S|LASP1_ENST00000433206.2_Missense_Mutation_p.G192S	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	248	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						GGAGCGCACCGGCGACACGGG	0.662			T	MLL	AML																																			Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0													94	83	87					17																	37074987		2203	4300	6503	SO:0001583	missense	0				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.742G>A	17.37:g.37074987G>A	ENSP00000325240:p.Gly248Ser		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.G248S	ENST00000318008.6	37	c.742	CCDS11331.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.934786	0.97122	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	T;T;T	0.63255	-0.03;-0.03;-0.03	5.39	5.39	0.77823	Src homology-3 domain (4);	0.906345	0.09459	N	0.799292	D	0.83312	0.5227	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80756	-0.1240	10	0.66056	D	0.02	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	192;248	B4DGQ0;Q14847	.;LASP1_HUMAN	S	248;192;248	ENSP00000325240:G248S;ENSP00000401048:G192S;ENSP00000392853:G248S	ENSP00000325240:G248S	G	+	1	0	LASP1	34328513	1.000000	0.71417	0.946000	0.38457	0.980000	0.70556	9.779000	0.99018	2.540000	0.85666	0.462000	0.41574	GGC	LASP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000002834		0.662	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LASP1	HGNC	protein_coding	OTTHUMT00000256890.3		0	13	0	G	NM_006148		37074987	1			no_errors	ENST00000318008	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A	A	37074987	G	A	37074987	3	1	45	1	0	0	0	0	1	0	0	0	8665	1116	39	1	768	1	LASP1	17	37074987	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	27266865	37074987	44120223	225	11063											
C17orf37	84299	genome.wustl.edu	37	chr17	37885787	37885787	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgcagtcacaggatgacGcagggaggacggctgttggt	8	8	17	8	2	1	1	1	1	0	0	1	4	1	4	0	5	1	4	0	5	0	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:37885787G>T	ENST00000394231.3	-	4	627	c.336C>A	c.(334-336)tgC>tgA	p.C112*	ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000474210.1_5'UTR|MIEN1_ENST00000577810.1_3'UTR|MIR4728_ENST00000580969.1_RNA			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	112					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										ACAGGATGACGCAGGGAGGAC	0.552																																																	0													216	201	206					17																	37885787		2203	4300	6503	SO:0001587	stop_gained	0			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"chromosome 17 open reading frame 37"	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.336C>A	17.37:g.37885787G>T	ENSP00000377778:p.Cys112*			Nonsense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.C112*	ENST00000394231.3	37	c.336	CCDS11344.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144066	0.77888	.	.	ENSG00000141741	ENST00000394231	.	.	.	5.98	-6.43	0.01926	.	0.051600	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0738	16.9594	0.86268	0.7663:0.0:0.2337:0.0	.	.	.	.	X	112	.	ENSP00000377778:C112X	C	-	3	2	C17orf37	35139313	0.001000	0.12720	0.185000	0.23176	0.679000	0.39708	-0.294000	0.08309	-1.028000	0.03321	-0.929000	0.02709	TGC	MIEN1	-	NULL	ENSG00000141741		0.552	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEN1	HGNC	protein_coding	OTTHUMT00000257020.3		0	22	0	G	NM_032339		37885787	-1			no_errors	ENST00000394231	ensembl	human	known	74_37	nonsense	6.17	76	5	SNP	0.576	T	T	37885787	G	T	37885787	4	4	45	1	0	0	0	0	0	1	0	0	1860	1079	38	2	15	2	C17orf37	17	37885787	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	810800	37885787	43309423	226	11064											
NKIRAS2	28511	genome.wustl.edu	37	chr17	40175837	40175837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctacttggccagcaagAtgacgcaaccccagagcaag	12	7	10	12	1	1	3	0	1	1	2	1	3	1	3	3	1	4	3	3	1	4	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:40175837A>G	ENST00000307641.5	+	4	1123	c.502A>G	c.(502-504)Atg>Gtg	p.M168V	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.M168V|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.M206V|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.M112V|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.M166V|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.M168V|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.M168V|ZNF385C_ENST00000461831.1_5'Flank|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000462043.2_3'UTR	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	168	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GGCCAGCAAGATGACGCAACC	0.612																																																	0													93	88	90					17																	40175837		2203	4300	6503	SO:0001583	missense	0			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"NFKB inhibitor interacting Ras-like protein 2"			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.502A>G	17.37:g.40175837A>G	ENSP00000303580:p.Met168Val		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M168V	ENST00000307641.5	37	c.502	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920603	0.52653	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.70780	0.3263	L	0.31845	0.965	0.80722	D	1	B;B	0.25351	0.124;0.009	B;B	0.25506	0.061;0.017	T	0.67749	-0.5590	10	0.49607	T	0.09	-18.0207	16.3593	0.83251	1.0:0.0:0.0:0.0	.	112;168	B4DNM3;Q9NYR9	.;KBRS2_HUMAN	V	168;166;168;168;168;112;206	ENSP00000303580:M168V;ENSP00000377462:M166V;ENSP00000377458:M168V;ENSP00000377459:M168V;ENSP00000377463:M168V;ENSP00000312773:M206V	ENSP00000303580:M168V	M	+	1	0	NKIRAS2	37429363	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.132000	0.64758	2.267000	0.75376	0.383000	0.25322	ATG	NKIRAS2	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	ENSG00000168256		0.612	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NKIRAS2	HGNC	protein_coding	OTTHUMT00000257457.1		0	20	0	A	NM_017595		40175837	1			no_errors	ENST00000307641	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	G	G	40175837	A	G	40175837	3	3	45	1	0	0	0	0	1	0	0	0	10484	333	12	4	512	4	NKIRAS2	17	40175837	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	2290050	40175837	41019373	227	11065											
SUPT4H1	6827	genome.wustl.edu	37	chr17	56423631	56423631	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttatagctgtgtctctGgatttgtaggccactcctcg	5	16	10	10	1	2	0	0	0	2	0	5	1	3	1	2	2	1	2	2	2	3	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:56423631G>T	ENST00000225504.3	-	5	396	c.330C>A	c.(328-330)tcC>tcA	p.S110S	BZRAP1-AS1_ENST00000583841.1_RNA|SUPT4H1_ENST00000580947.1_Silent_p.S110S|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|SUPT4H1_ENST00000581540.1_Silent_p.S101S|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000580022.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|SUPT4H1_ENST00000577396.1_Silent_p.S69S	NM_003168.1	NP_003159.1	P63272	SPT4H_HUMAN	suppressor of Ty 4 homolog 1 (S. cerevisiae)	110				QGIVRELKSRGVAYKSRDTAIKT -> HAKDSRSNVNKYEP RESSEGHDTCLASLFHSLRHSNSLFAL (in Ref. 3; BAC85230). {ECO:0000305}.	chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTGTCTCTGGATTTGTAGG	0.473																																					NSCLC(25;723 896 19867 29219 40028)												0													155	136	142					17																	56423631		2203	4300	6503	SO:0001819	synonymous_variant	0			U38817	CCDS11606.1	17q22	2014-06-23	2001-11-28		ENSG00000213246	ENSG00000213246			11467	protein-coding gene	gene with protein product		603555	"suppressor of Ty (S.cerevisiae) 4 homolog 1"	SUPT4H		8786137	Standard	NM_003168		Approved	SPT4H	uc002iwe.2	P63272	OTTHUMG00000178926	ENST00000225504.3:c.330C>A	17.37:g.56423631G>T			B2R4X8|D3DTZ4|Q16550|Q62387|Q6ZP89	Silent	SNP	pfam_Spt4/RpoE2_Znf,pirsf_Spt4	p.S110	ENST00000225504.3	37	c.330	CCDS11606.1	17																																																																																			SUPT4H1	-	pirsf_Spt4	ENSG00000213246		0.473	SUPT4H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT4H1	HGNC	protein_coding	OTTHUMT00000444000.1		0	16	0	G	NM_003168		56423631	-1			no_errors	ENST00000225504	ensembl	human	known	74_37	silent	9.09	50	5	SNP	1.000	T	T	56423631	G	T	56423631	2	4	45	1	0	0	0	0	0	0	0	1	15445	1335	47	3		3	SUPT4H1	17	56423631	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	16247794	56423631	24771579	228	11066											
TBX2	6909	genome.wustl.edu	37	chr17	59479069	59479069	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcccccccttcaaggtGcgagtcagcggcctggacaa	8	8	11	14	2	2	0	2	0	0	0	3	2	3	1	4	3	2	1	4	3	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:59479069G>T	ENST00000240328.3	+	2	701	c.420G>T	c.(418-420)gtG>gtT	p.V140V	RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	140					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						CCTTCAAGGTGCGAGTCAGCG	0.567																																					GBM(3;187 253 11467 14965 23079)												0													46	43	44					17																	59479069		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.420G>T	17.37:g.59479069G>T			Q16424|Q7Z647	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,pfscan_TF_T-box	p.C133F	ENST00000240328.3	37	c.398	CCDS11627.2	17																																																																																			TBX2	-	NULL	ENSG00000121068		0.567	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0	16	0	G	NM_005994		59479069	1			no_errors	ENST00000419047	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T	T	59479069	G	T	59479069	2	4	45	1	0	0	0	0	0	0	0	1	15702	1306	46	3		3	TBX2	17	59479069	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3055438	59479069	21716141	229	11067											
TBX2	6909	genome.wustl.edu	37	chr17	59482957	59482957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagcagttctttgggccGctgggagccggccagccgct	4	7	17	13	3	1	0	0	0	1	0	1	1	1	1	4	4	3	5	4	4	0	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:59482957G>A	ENST00000240328.3	+	6	1727	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	482	Gly-rich.				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						TCTTTGGGCCGCTGGGAGCCG	0.692																																					GBM(3;187 253 11467 14965 23079)												0													7	10	9					17																	59482957		2141	4199	6340	SO:0001819	synonymous_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1446G>A	17.37:g.59482957G>A			Q16424|Q7Z647	Silent	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.P482	ENST00000240328.3	37	c.1446	CCDS11627.2	17																																																																																			TBX2	-	NULL	ENSG00000121068		0.692	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0	8	0	G	NM_005994		59482957	1			no_errors	ENST00000240328	ensembl	human	novel	74_37	silent	8.06	57	5	SNP	0.001	A	A	59482957	G	A	59482957	2	1	45	1	0	0	0	0	0	0	0	1	15702	1074	38	1		1	TBX2	17	59482957	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3888	59482957	21712253	230	11068											
UBE2O	63893	genome.wustl.edu	37	chr17	74395954	74395954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgggaacactgggtgtctgGggagcatgacatgatccgca	9	7	15	10	2	1	2	0	2	1	0	2	4	2	4	2	4	2	2	2	4	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:74395954G>A	ENST00000319380.7	-	9	1268	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	402					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TGGGTGTCTGGGGAGCATGAC	0.602																																																	0													106	108	108					17																	74395954		2203	4300	6503	SO:0001583	missense	0			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1204C>T	17.37:g.74395954G>A	ENSP00000323687:p.Pro402Ser		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P402S	ENST00000319380.7	37	c.1204	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985790	0.74589	.	.	ENSG00000175931	ENST00000319380	T	0.72282	-0.64	5.19	5.19	0.71726	.	0.312468	0.31347	N	0.007808	T	0.58380	0.2118	L	0.40543	1.245	0.36067	D	0.841838	P	0.35011	0.48	B	0.27887	0.084	T	0.62900	-0.6756	10	0.07644	T	0.81	-20.5217	18.7144	0.91670	0.0:0.0:1.0:0.0	.	402	Q9C0C9	UBE2O_HUMAN	S	402	ENSP00000323687:P402S	ENSP00000323687:P402S	P	-	1	0	UBE2O	71907549	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.527000	0.53517	2.423000	0.82170	0.563000	0.77884	CCA	UBE2O	-	NULL	ENSG00000175931		0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	-	0	15	0	G	NM_022066		74395954	-1	tier1	-	no_errors	ENST00000319380	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	A	A	74395954	G	A	74395954	3	1	45	1	0	0	0	0	1	0	0	0	16917	1232	43	3	2714	3	UBE2O	17	74395954	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	14912997	74395954	6799256	231	11069											
GAA	2548	genome.wustl.edu	37	chr17	78086727	78086727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcggggccgacgtctgCggcttcctgggcaacacctc	4	8	14	15	4	1	0	0	0	1	0	4	1	2	0	3	5	2	2	3	5	1	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:78086727C>T	ENST00000302262.3	+	14	2160	c.1941C>T	c.(1939-1941)tgC>tgT	p.C647C	GAA_ENST00000390015.3_Silent_p.C647C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	647			C -> W (in GSD2). {ECO:0000269|PubMed:7981676, ECO:0000269|PubMed:9535769}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCGACGTCTGCGGCTTCCTGG	0.637																																																	0			GRCh37	CM940802	GAA	M							18	20	19					17																	78086727		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1941C>T	17.37:g.78086727C>T			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.C647	ENST00000302262.3	37	c.1941	CCDS32760.1	17																																																																																			GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.637	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0	30	0	C			78086727	1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	silent	21.21	104	28	SNP	0.969	T	T	78086727	C	T	78086727	2	4	45	1	0	0	0	0	0	0	0	1	6171	776	27	1		1	GAA	17	78086727	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	3690773	78086727	3108483	232	11070											
FASN	2194	genome.wustl.edu	37	chr17	80041136	80041136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcggaaggcgtcctccAcctgggccccatggaacacc	8	6	12	15	2	0	0	0	0	0	0	2	2	2	2	6	4	2	1	6	4	3	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:80041136A>T	ENST00000306749.2	-	32	5725	c.5507T>A	c.(5506-5508)gTg>gAg	p.V1836E	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1836	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGCGTCCTCCACCTGGGCCCC	0.677																																					Colon(59;314 1043 11189 28578 32273)												0													90	82	85					17																	80041136		2202	4299	6501	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5507T>A	17.37:g.80041136A>T	ENSP00000304592:p.Val1836Glu		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.V1836E	ENST00000306749.2	37	c.5507	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760550	0.49468	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.32272	1.46	4.77	2.36	0.29203	Polyketide synthase, enoylreductase (1);	0.197294	0.43110	D	0.000601	T	0.48077	0.1480	H	0.96048	3.76	0.80722	D	1	P	0.45715	0.865	P	0.45377	0.478	T	0.54892	-0.8225	10	0.87932	D	0	-27.1907	6.2472	0.20825	0.7786:0.0:0.0797:0.1417	.	1836	P49327	FAS_HUMAN	E	1836;801	ENSP00000304592:V1836E	ENSP00000304592:V1836E	V	-	2	0	FASN	77634425	1.000000	0.71417	0.991000	0.47740	0.135000	0.20990	4.967000	0.63722	0.656000	0.30886	0.459000	0.35465	GTG	FASN	-	smart_PKS_ER	ENSG00000169710		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1		0	20	0	A	NM_004104		80041136	-1			no_errors	ENST00000306749	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T	T	80041136	A	T	80041136	3	4	45	1	0	0	0	0	1	0	0	0	5705	159	6	5	2076	5	FASN	17	80041136	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	1954409	80041136	1154074	233	11071											
FASN	2194	genome.wustl.edu	37	chr17	80042404	80042404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catacctgggatggcatcagGggacagcttgccagtggcca	9	7	14	11	0	1	0	1	0	0	0	1	2	1	2	3	5	3	2	3	5	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr17:80042404G>A	ENST00000306749.2	-	27	4971	c.4753C>T	c.(4753-4755)Cct>Tct	p.P1585S	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1585					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ATGGCATCAGGGGACAGCTTG	0.687																																					Colon(59;314 1043 11189 28578 32273)												0													26	25	25					17																	80042404		2187	4292	6479	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4753C>T	17.37:g.80042404G>A	ENSP00000304592:p.Pro1585Ser		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.P1585S	ENST00000306749.2	37	c.4753	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480557	0.63849	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29655	1.56	4.5	4.5	0.54988	GroES-like (1);Polyketide synthase, enoylreductase (1);	0.059465	0.64402	D	0.000002	T	0.52092	0.1713	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.55127	-0.8189	10	0.54805	T	0.06	-18.3882	17.1837	0.86861	0.0:0.0:1.0:0.0	.	1585	P49327	FAS_HUMAN	S	1585;550	ENSP00000304592:P1585S	ENSP00000304592:P1585S	P	-	1	0	FASN	77635693	1.000000	0.71417	0.822000	0.32727	0.344000	0.29017	5.503000	0.66962	2.043000	0.60533	0.313000	0.20887	CCT	FASN	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000169710		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	12	0	G	NM_004104		80042404	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	A	A	80042404	G	A	80042404	3	1	45	1	0	0	0	0	1	0	0	0	5705	1232	43	3	2850	3	FASN	17	80042404	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1268	80042404	1152806	234	11072											
MYOM1	8736	genome.wustl.edu	37	chr18	3188780	3188780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcgttctgccttttctCgaatcacaactttccttgac	8	14	6	13	2	3	1	1	1	2	0	5	2	4	1	2	1	2	1	2	1	2	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:3188780C>T	ENST00000356443.4	-	4	1070	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.R246Q|MYOM1_ENST00000261606.7_Missense_Mutation_p.R246Q	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	246					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCTTTTCTCGAATCACAAC	0.453																																																	0													93	87	89					18																	3188780		1944	4137	6081	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.737G>A	18.37:g.3188780C>T	ENSP00000348821:p.Arg246Gln		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R246Q	ENST00000356443.4	37	c.737	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.356344	0.95854	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.49720	0.87;0.89;0.77	5.84	5.84	0.93424	.	0.071710	0.53938	D	0.000048	T	0.62429	0.2427	L	0.38175	1.15	0.44447	D	0.997374	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.61554	-0.7039	10	0.56958	D	0.05	.	19.7351	0.96200	0.0:1.0:0.0:0.0	.	246;246	P52179-2;P52179	.;MYOM1_HUMAN	Q	246	ENSP00000348821:R246Q;ENSP00000383413:R246Q;ENSP00000261606:R246Q	ENSP00000261606:R246Q	R	-	2	0	MYOM1	3178780	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.270000	0.58896	2.756000	0.94617	0.603000	0.83216	CGA	MYOM1	-	NULL	ENSG00000101605		0.453	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	-	0	15	0	C	NM_003803		3188780	-1	tier1	-	no_errors	ENST00000356443	ensembl	human	known	74_37	missense	55.77	23	29	SNP	1.000	T	T	3188780	C	T	3188780	3	4	45	1	0	0	0	0	1	0	0	0	10129	884	31	1	4460	1	MYOM1	18	3188780	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09		3188780	74888468	235	11073											
TCEB3B	51224	genome.wustl.edu	37	chr18	44560118	44560118	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcttagcattcactctGcgtccagggaaagcagcttc	9	10	10	12	1	3	0	1	0	2	0	5	1	4	1	1	2	4	4	1	2	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:44560118G>T	ENST00000332567.4	-	1	1870	c.1518C>A	c.(1516-1518)cgC>cgA	p.R506R	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	506	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CATTCACTCTGCGTCCAGGGA	0.587																																																	0													72	81	78					18																	44560118		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1518C>A	18.37:g.44560118G>T			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R506	ENST00000332567.4	37	c.1518	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.587	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1		0	17	0	G	NM_016427		44560118	-1			no_errors	ENST00000332567	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.001	T	T	44560118	G	T	44560118	2	4	45	1	0	0	0	0	0	0	0	1	15729	1306	46	3		3	TCEB3B	18	44560118	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	41371338	44560118	33517130	236	11074											
MEX3C	51320	genome.wustl.edu	37	chr18	48703718	48703718	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagggaccctgacttggacgGtggtttgaccgggcagatta	9	9	15	8	2	0	3	0	2	0	1	0	5	0	5	2	5	0	2	2	5	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:48703718G>T	ENST00000591040.1	-	0	271							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GACTTGGACGGTGGTTTGACC	0.488																																																	0													99	85	90					18																	48703718		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.-528C>A	18.37:g.48703718G>T			A1L022|Q9NZE3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.T328N	ENST00000591040.1	37	c.983		18	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287947	0.80803	.	.	ENSG00000176624	ENST00000406189	T	0.35421	1.31	5.97	5.97	0.96955	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.66982	0.2845	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70245	-0.4925	10	0.87932	D	0	-12.285	19.2102	0.93751	0.0:0.0:1.0:0.0	.	328	Q5U5Q3	MEX3C_HUMAN	N	328	ENSP00000385610:T328N	ENSP00000385610:T328N	T	-	2	0	MEX3C	46957716	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	ACC	MEX3C	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000176624		0.488	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	MEX3C	HGNC	protein_coding	OTTHUMT00000449559.1	-	0	28	0	G	NM_016626		48703718	-1	tier1	-	no_errors	ENST00000406189	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	48703718	G	T	48703718	1	4	45	0	1	0	0	0	0	0	0	0	9549	1261	44	3		3	MEX3C	18	48703718	5'UTR	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	4143600	48703718	29373530	237	11075											
DCC	1630	genome.wustl.edu	37	chr18	51025797	51025797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccaactcacccactccGcagctttgctaatcctttgc	8	11	5	17	2	1	0	1	0	0	0	4	1	3	0	4	0	4	3	4	0	2	3	rs149118168		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr18:51025797G>A	ENST00000442544.2	+	27	4644	c.4028G>A	c.(4027-4029)cGc>cAc	p.R1343H	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.R976H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1343					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCCACTCCGCAGCTTTGCT	0.527																																																	0								G	HIS/ARG	0,4406		0,0,2203	213	167	182		4028	6.2	1	18	dbSNP_134	182	4,8596	3.7+/-12.6	0,4,4296	no	missense	DCC	NM_005215.3	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	1343/1448	51025797	4,13002	2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4028G>A	18.37:g.51025797G>A	ENSP00000389140:p.Arg1343His			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1343H	ENST00000442544.2	37	c.4028	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958487	0.53400	0.0	4.65E-4	ENSG00000187323	ENST00000442544	T	0.50813	0.73	6.17	6.17	0.99709	Neogenin, C-terminal (1);	0.071279	0.56097	D	0.000030	T	0.65112	0.2660	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.66716	0.946	T	0.63875	-0.6538	10	0.87932	D	0	-6.3649	19.6509	0.95805	0.0:0.0:1.0:0.0	.	1343	P43146	DCC_HUMAN	H	1343	ENSP00000389140:R1343H	ENSP00000389140:R1343H	R	+	2	0	DCC	49279795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.871000	0.87180	2.941000	0.99782	0.655000	0.94253	CGC	DCC	-	pfam_Neogenin_C	ENSG00000187323		0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3		0	21	0	G	NM_005215		51025797	1			no_errors	ENST00000442544	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	A	A	51025797	G	A	51025797	3	1	45	1	0	0	0	0	1	0	0	0	4291	1087	38	1	4134	1	DCC	18	51025797	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2322079	51025797	27051451	238	11076											
REXO1	57455	genome.wustl.edu	37	chr19	1816336	1816336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgtccaccacggtgctGtggatgacctgtgggcagcg	6	8	16	11	3	0	1	0	1	0	0	1	3	1	2	3	3	2	2	3	3	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:1816336G>A	ENST00000170168.4	-	15	3559	c.3465C>T	c.(3463-3465)caC>caT	p.H1155H	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1155	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGGTGCTGTGGATGACCT	0.682																																																	0													15	12	13					19																	1816336		2188	4289	6477	SO:0001819	synonymous_variant	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3465C>T	19.37:g.1816336G>A			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.H1155	ENST00000170168.4	37	c.3465	CCDS32866.1	19																																																																																			REXO1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	ENSG00000079313		0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1		0	9	0	G	NM_020695		1816336	-1			no_errors	ENST00000170168	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.998	A	A	1816336	G	A	1816336	2	1	45	1	0	0	0	0	0	0	0	1	13286	1368	48	3		3	REXO1	19	1816336	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		1816336	57312647	239	11077											
ANKRD24	170961	genome.wustl.edu	37	chr19	4217407	4217407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggagctggaggcggcCctggggaagtgcgaggccgc	5	4	21	11	4	0	0	0	0	0	0	0	4	0	3	2	7	3	2	2	7	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:4217407C>T	ENST00000600132.1	+	18	2526	c.2250C>T	c.(2248-2250)gcC>gcT	p.A750A	ANKRD24_ENST00000318934.4_Silent_p.A750A|ANKRD24_ENST00000262970.5_Silent_p.A840A	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	750										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		tggaggcggccctggggaagt	0.731																																																	0													5	6	5					19																	4217407		1601	3330	4931	SO:0001819	synonymous_variant	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2250C>T	19.37:g.4217407C>T			O75268|O95781	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A750	ENST00000600132.1	37	c.2250	CCDS45925.1	19																																																																																			ANKRD24	-	NULL	ENSG00000089847		0.731	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	-	0	8	0	C	XM_114000		4217407	1	tier1	-	no_errors	ENST00000318934	ensembl	human	known	74_37	silent	64.15	19	34	SNP	0.087	T	T	4217407	C	T	4217407	2	4	45	1	0	0	0	0	0	0	0	1	653	610	22	3		3	ANKRD24	19	4217407	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	2401071	4217407	54911576	240	11078											
LDLR	3949	genome.wustl.edu	37	chr19	11240346	11240346	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggctacagctacccctcGgtgagtgaccctctctagaa	9	8	10	14	2	1	3	0	2	1	1	3	4	1	3	3	2	3	2	3	2	4	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:11240346G>A	ENST00000558518.1	+	17	2734	c.2547G>A	c.(2545-2547)tcG>tcA	p.S849S	LDLR_ENST00000455727.2_Splice_Site_p.S681S|LDLR_ENST00000558013.1_Splice_Site_p.S849S|LDLR_ENST00000535915.1_Splice_Site_p.S808S|LDLR_ENST00000557933.1_Splice_Site_p.R870Q|LDLR_ENST00000545707.1_Splice_Site_p.S671S|LDLR_ENST00000560628.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	849	Required for MYLIP-triggered down- regulation of LDLR.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	GCTACCCCTCGGTGAGTGACC	0.582																																					GBM(18;201 575 7820 21545)												0													101	79	86					19																	11240346		2203	4300	6503	SO:0001630	splice_region_variant	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"Low density lipoprotein receptors"	6547	protein-coding gene	gene with protein product	"familial hypercholesterolemia"	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2547+1G>A	19.37:g.11240346G>A			B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R870Q	ENST00000558518.1	37	c.2609	CCDS12254.1	19																																																																																			LDLR	-	NULL	ENSG00000130164		0.582	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2		0	14	0	G		Silent	11240346	1			no_errors	ENST00000557933	ensembl	human	novel	74_37	missense	8.00	23	2	SNP	1.000	A	A	11240346	G	A	11240346	5	1	45	1	0	0	0	0	0	0	1	0	8732	1130	39	1	2613	1	LDLR	19	11240346	Splice_Site	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	7022939	11240346	47888637	241	11079											
NANOS3	342977	genome.wustl.edu	37	chr19	13988559	13988559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggacacaggccaccgccGaggaggaggaggaggagcag	13	0	18	10	2	0	0	0	0	0	0	0	7	0	6	3	7	1	1	3	7	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:13988559G>T	ENST00000397555.2	+	2	440	c.440G>T	c.(439-441)cGa>cTa	p.R147L	MIR181D_ENST00000384853.1_RNA|MIR181C_ENST00000384881.1_RNA|NANOS3_ENST00000339133.5_Missense_Mutation_p.R166L|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGA	0.642																																																	1	Deletion - In frame(1)	prostate(1)											6	7	6					19																	13988559		1897	3928	5825	SO:0001583	missense	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.440G>T	19.37:g.13988559G>T	ENSP00000380687:p.Arg147Leu		Q495E5	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.R166L	ENST00000397555.2	37	c.497		19	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157944	0.38119	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.44881	0.91;0.93	4.46	0.991	0.19813	.	0.511109	0.14695	N	0.303930	T	0.16342	0.0393	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21793	-1.0235	9	0.09084	T	0.74	-7.1094	2.763	0.05312	0.26:0.0:0.5075:0.2325	.	166	P60323-2	.	L	166;147	ENSP00000341992:R166L;ENSP00000380687:R147L	ENSP00000341992:R166L	R	+	2	0	NANOS3	13849559	0.037000	0.19845	0.219000	0.23793	0.727000	0.41649	0.849000	0.27723	0.511000	0.28236	0.609000	0.83330	CGA	NANOS3	-	NULL	ENSG00000187556		0.642	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	NANOS3	HGNC	protein_coding			0	15	0	G	XM_292819		13988559	1			no_errors	ENST00000339133	ensembl	human	known	74_37	missense	5.71	32	2	SNP	0.132	T	T	13988559	G	T	13988559	3	4	45	1	0	0	0	0	1	0	0	0	10191	1058	37	2	499	2	NANOS3	19	13988559	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2748213	13988559	45140424	242	11080											
NWD1	284434	genome.wustl.edu	37	chr19	16902329	16902329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgggaaaacttcaggggAagcaacatatgtccagcatc	14	7	10	10	1	1	0	1	0	0	0	3	2	2	2	1	3	5	2	1	3	6	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:16902329A>G	ENST00000552788.1	+	12	3109	c.3109A>G	c.(3109-3111)Aag>Gag	p.K1037E	NWD1_ENST00000523826.1_Missense_Mutation_p.K831E|NWD1_ENST00000339803.6_Missense_Mutation_p.K902E|NWD1_ENST00000379808.3_Missense_Mutation_p.K1037E|NWD1_ENST00000524140.2_Missense_Mutation_p.K1037E|NWD1_ENST00000549814.1_Missense_Mutation_p.K1037E			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1037							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACTTCAGGGGAAGCAACATAT	0.542																																																	0													115	91	99					19																	16902329		2203	4300	6503	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3109A>G	19.37:g.16902329A>G	ENSP00000447224:p.Lys1037Glu		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K1037E	ENST00000552788.1	37	c.3109		19	.	.	.	.	.	.	.	.	.	.	A	9.967	1.224413	0.22457	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.39997	1.58;1.05;1.58;3.56;3.56;3.56	5.34	3.26	0.37387	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.885835	0.09901	N	0.741087	T	0.24198	0.0586	N	0.24115	0.695	0.09310	N	1	B;B;B	0.27229	0.049;0.122;0.172	B;B;B	0.25291	0.026;0.059;0.058	T	0.28138	-1.0053	10	0.05620	T	0.96	-12.7136	7.1867	0.25803	0.7672:0.1489:0.0839:0.0	.	1037;1037;902	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	E	902;1037;1037;1037;831;1037;902	ENSP00000428579:K1037E;ENSP00000447548:K1037E;ENSP00000369136:K1037E;ENSP00000428955:K831E;ENSP00000447224:K1037E;ENSP00000340159:K902E	ENSP00000340159:K902E	K	+	1	0	NWD1	16763329	0.006000	0.16342	0.001000	0.08648	0.000000	0.00434	1.724000	0.38064	0.037000	0.15575	-1.256000	0.01477	AAG	NWD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.542	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1		0	12	0	A	NM_001007525		16902329	1			no_errors	ENST00000379808	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	G	G	16902329	A	G	16902329	3	3	45	1	0	0	0	0	1	0	0	0	10820	247	9	4	2742	4	NWD1	19	16902329	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	2913770	16902329	42226654	243	11081											
UNC13A	23025	genome.wustl.edu	37	chr19	17720882	17720882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagatgccagaagtctGccacttgaggtcattggcag	10	8	13	10	1	2	3	1	1	1	2	2	4	2	4	3	3	2	1	3	3	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:17720882G>T	ENST00000519716.2	-	43	4677	c.4678C>A	c.(4678-4680)Cag>Aag	p.Q1560K	UNC13A_ENST00000252773.7_Missense_Mutation_p.Q1560K|UNC13A_ENST00000552293.1_Missense_Mutation_p.Q1554K|UNC13A_ENST00000428389.2_Missense_Mutation_p.Q1648K|UNC13A_ENST00000551649.1_Missense_Mutation_p.Q1579K|UNC13A_ENST00000550896.1_Missense_Mutation_p.Q1533K	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1560	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CCAGAAGTCTGCCACTTGAGG	0.502																																																	0													108	117	114					19																	17720882		2160	4288	6448	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4678C>A	19.37:g.17720882G>T	ENSP00000429562:p.Gln1560Lys		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.Q1648K	ENST00000519716.2	37	c.4942	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834353	0.50951	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.137856	0.49916	U	0.000135	T	0.56093	0.1962	L	0.28649	0.875	0.43787	D	0.996326	B	0.20988	0.05	B	0.25140	0.058	T	0.57154	-0.7860	10	0.51188	T	0.08	-19.4361	13.9527	0.64129	0.0:0.0:1.0:0.0	.	1560	Q9UPW8	UN13A_HUMAN	K	1560;1648;1560;1579;1554;1533	ENSP00000429562:Q1560K;ENSP00000400409:Q1648K;ENSP00000252773:Q1560K;ENSP00000447236:Q1579K;ENSP00000447572:Q1554K;ENSP00000446831:Q1533K	ENSP00000252773:Q1560K	Q	-	1	0	UNC13A	17581882	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.572000	0.67411	1.869000	0.54173	0.478000	0.44815	CAG	UNC13A	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000130477		0.502	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	32	0	G	XM_038604		17720882	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	17720882	G	T	17720882	3	4	45	1	0	0	0	0	1	0	0	0	17033	1328	46	3	441	3	UNC13A	19	17720882	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	818553	17720882	41408101	244	11082											
ZNF675	171392	genome.wustl.edu	37	chr19	23836454	23836454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaaagctttgccacattcTtcacatttgtagggtttctc	9	17	6	9	0	3	0	1	0	2	0	4	0	3	0	1	1	2	3	1	1	3	7			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:23836454T>C	ENST00000359788.4	-	4	1449	c.1281A>G	c.(1279-1281)gaA>gaG	p.E427E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	427					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGCCACATTCTTCACATTTGT	0.378																																																	0													52	56	55					19																	23836454		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1281A>G	19.37:g.23836454T>C			Q8N211	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E427	ENST00000359788.4	37	c.1281	CCDS32981.1	19																																																																																			ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197372		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	-	0	11	0	T	NM_138330		23836454	-1	tier1	-	no_errors	ENST00000359788	ensembl	human	known	74_37	silent	18.67	61	14	SNP	0.028	C	C	23836454	T	C	23836454	2	2	45	1	0	0	0	0	0	0	0	1	18130	1606	56	4		4	ZNF675	19	23836454	Silent	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	6115572	23836454	35292529	245	11083											
ZFP30	22835	genome.wustl.edu	37	chr19	38127108	38127108	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgttcttcaagtccacAgcttttaattctttccatta	8	20	3	10	0	4	0	1	0	3	0	6	0	6	0	2	0	1	2	2	0	3	9			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:38127108A>C	ENST00000351218.2	-	6	891	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G	ZFP30_ENST00000392144.1_Missense_Mutation_p.C112G|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.C112G	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAGTCCACAGCTTTTAATT	0.353																																																	0													63	62	63					19																	38127108		2203	4300	6503	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.334T>G	19.37:g.38127108A>C	ENSP00000343581:p.Cys112Gly		Q58EY8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C112G	ENST00000351218.2	37	c.334	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	A	1.780	-0.482245	0.04383	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.05717	3.4;3.4;3.4	3.82	-2.68	0.06041	.	1.515130	0.04481	N	0.377832	T	0.04998	0.0134	L	0.29908	0.895	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.11329	0.006;0.006	T	0.44345	-0.9334	10	0.24483	T	0.36	.	6.0279	0.19665	0.6525:0.1458:0.2017:0.0	.	112;112	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	G	112;112;112;111	ENSP00000343581:C112G;ENSP00000422930:C112G;ENSP00000375988:C112G	ENSP00000343581:C112G	C	-	1	0	ZFP30	42818948	0.000000	0.05858	0.000000	0.03702	0.708000	0.40852	0.058000	0.14301	-0.139000	0.11414	0.459000	0.35465	TGT	ZFP30	-	NULL	ENSG00000120784		0.353	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0	13	0	A	NM_014898		38127108	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	16.28	72	14	SNP	0.000	C	C	38127108	A	C	38127108	3	2	45	1	0	0	0	0	1	0	0	0	17692	188	7	4	1229	4	ZFP30	19	38127108	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	14290654	38127108	21001875	246	11084											
FAM98C	147965	genome.wustl.edu	37	chr19	38895990	38895990	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcccatcagatctcaGagctgcagccttctctgccc	6	12	6	17	0	5	2	2	0	4	2	8	2	5	2	3	0	4	2	3	0	0	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:38895990G>T	ENST00000252530.5	+	5	581	c.562G>T	c.(562-564)Gag>Tag	p.E188*	FAM98C_ENST00000343358.7_Intron|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	188										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCAGATCTCAGAGCTGCAGCC	0.602																																																	0													58	58	58					19																	38895990		2063	4207	6270	SO:0001587	stop_gained	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.562G>T	19.37:g.38895990G>T	ENSP00000252530:p.Glu188*		A6NMW3|Q66K45	Nonsense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.E188*	ENST00000252530.5	37	c.562	CCDS42562.1	19	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903825	0.92035	.	.	ENSG00000130244	ENST00000252530	.	.	.	5.01	3.93	0.45458	.	0.502924	0.16602	N	0.207302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-11.8726	11.5521	0.50726	0.0:0.1795:0.8205:0.0	.	.	.	.	X	188	.	ENSP00000252530:E188X	E	+	1	0	FAM98C	43587830	0.994000	0.37717	0.989000	0.46669	0.881000	0.50899	3.376000	0.52417	2.341000	0.79615	0.558000	0.71614	GAG	FAM98C	-	pfam_Uncharacterised_FAM98	ENSG00000130244		0.602	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1		0	13	0	G	NM_174905		38895990	1			no_errors	ENST00000252530	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.962	T	T	38895990	G	T	38895990	4	4	45	1	0	0	0	0	0	1	0	0	5680	943	33	3	580	3	FAM98C	19	38895990	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	768882	38895990	20232993	247	11085											
FCGBP	8857	genome.wustl.edu	37	chr19	40433435	40433435	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgatacccccatggttGtaggtcagctttgtggcctg	6	12	12	11	0	1	1	1	1	0	0	1	1	1	1	4	3	2	3	4	3	2	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:40433435G>T	ENST00000221347.6	-	2	841	c.834C>A	c.(832-834)taC>taA	p.Y278*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	278	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCATGGTTGTAGGTCAGCT	0.592																																																	0													54	47	50					19																	40433435		2203	4300	6503	SO:0001587	stop_gained	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.834C>A	19.37:g.40433435G>T	ENSP00000221347:p.Tyr278*		O95784	Nonsense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.Y278*	ENST00000221347.6	37	c.834	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165682	0.38217	.	.	ENSG00000090920	ENST00000221347	.	.	.	3.9	-2.05	0.07321	.	0.652414	0.13529	N	0.381064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7631	0.46277	0.578:0.0:0.422:0.0	.	.	.	.	X	278	.	ENSP00000221347:Y278X	Y	-	3	2	FCGBP	45125275	0.001000	0.12720	0.035000	0.18076	0.060000	0.15804	0.149000	0.16243	-0.522000	0.06417	-0.797000	0.03246	TAC	FCGBP	-	NULL	ENSG00000090920		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0	12	0	G	NM_003890		40433435	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.010	T	T	40433435	G	T	40433435	4	4	45	1	0	0	0	0	0	1	0	0	5800	1372	48	3	15523	3	FCGBP	19	40433435	Nonsense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1537445	40433435	18695548	248	11086											
DMRTC2	63946	genome.wustl.edu	37	chr19	42353321	42353321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggccccctagccagccccGcacgtgagtagggagagaag	10	3	15	13	2	0	2	0	1	0	1	0	4	0	3	5	2	2	2	5	2	3	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:42353321G>A	ENST00000269945.3	+	6	803	c.752G>A	c.(751-753)cGc>cAc	p.R251H	DMRTC2_ENST00000596827.1_Missense_Mutation_p.R251H	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	251	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGCCAGCCCCGCACGTGAGTA	0.567																																																	0													75	87	83					19																	42353321		2203	4300	6503	SO:0001583	missense	0			AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.752G>A	19.37:g.42353321G>A	ENSP00000269945:p.Arg251His		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.R251H	ENST00000269945.3	37	c.752	CCDS33034.1	19	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196507	0.22037	.	.	ENSG00000142025	ENST00000269945	T	0.33438	1.41	5.32	-9.78	0.00496	.	0.790399	0.11073	N	0.602726	T	0.09818	0.0241	N	0.04043	-0.29	0.23036	N	0.998396	B;B	0.12630	0.006;0.0	B;B	0.04013	0.001;0.0	T	0.35699	-0.9778	10	0.18710	T	0.47	-0.6289	10.6287	0.45523	0.7381:0.0:0.1519:0.11	.	251;251	B4DX56;Q8IXT2	.;DMRTD_HUMAN	H	251	ENSP00000269945:R251H	ENSP00000269945:R251H	R	+	2	0	DMRTC2	47045161	0.733000	0.28132	0.789000	0.31954	0.561000	0.35649	-0.452000	0.06787	-1.408000	0.02040	-1.157000	0.01802	CGC	DMRTC2	-	NULL	ENSG00000142025		0.567	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRTC2	HGNC	protein_coding	OTTHUMT00000463045.1	-	0	24	0	G	NM_001040283		42353321	1	tier1	-	no_errors	ENST00000269945	ensembl	human	known	74_37	missense	60.00	14	21	SNP	0.627	A	A	42353321	G	A	42353321	3	1	45	1	0	0	0	0	1	0	0	0	4605	1087	38	1	770	1	DMRTC2	19	42353321	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	1919886	42353321	16775662	249	11087											
CIC	23152	genome.wustl.edu	37	chr19	42792111	42792112	+	Frame_Shift_Ins	INS	-	-	GCTG																															gcatgtcggagacgggcactINSgctgctgcccctgggggtta																										TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:42792111_42792112insGCTG	ENST00000575354.2	+	6	955_956	c.915_916insGCTG	c.(916-918)gctfs	p.-306fs	CIC_ENST00000572681.2_Frame_Shift_Ins_p.-1215fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-306fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A306T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGACGGGCACTGCTGCTGCCCC	0.683			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Substitution - Missense(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.916_919dupGCTG	19.37:g.42792112_42792115dupGCTG	ENSP00000458663:p.Ala306fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A306fs	ENST00000575354.2	37	c.915_916	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.683	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0	10	0	-			42792112	1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_ins	25.00	27	9	INS	0.993:0.993	GCTG	GCTG	42792112	-	GCTG	42792111	7	5	45	1	0	1	1	0	0	0	0	0	3431	1567	55	0	937	0	CIC	19	42792111	Frame_Shift_Ins	INS	-	TCGA-JY-A93E-01A-11D-A37C-09	438790	42792111	16336872	250	11088											
ZNF229	7772	genome.wustl.edu	37	chr19	44932920	44932920	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtatagggcttttttcccGtgtggactcgctgatgtttg	5	16	12	8	3	0	1	0	1	0	0	2	2	1	2	1	2	0	4	1	2	2	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:44932920G>C	ENST00000588931.1	-	6	2469	c.2036C>G	c.(2035-2037)aCg>aGg	p.T679R	ZNF229_ENST00000291187.4_Missense_Mutation_p.T673R|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTTTTTTCCCGTGTGGACTCG	0.512																																																	0													130	131	131					19																	44932920		2116	4257	6373	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2036C>G	19.37:g.44932920G>C	ENSP00000466519:p.Thr679Arg		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T679R	ENST00000588931.1	37	c.2036	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937622	0.92458	.	.	ENSG00000167383	ENST00000291187	T	0.19105	2.17	3.82	2.75	0.32379	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42268	0.1195	M	0.68593	2.085	0.35555	D	0.804195	D	0.89917	1.0	D	0.75484	0.986	T	0.54957	-0.8215	9	0.87932	D	0	.	12.0118	0.53291	0.0:0.1767:0.8233:0.0	.	679	Q9UJW7	ZN229_HUMAN	R	679	ENSP00000291187:T679R	ENSP00000291187:T679R	T	-	2	0	ZNF229	49624760	0.713000	0.27926	0.226000	0.23910	0.928000	0.56348	0.916000	0.28651	0.564000	0.29238	0.609000	0.83330	ACG	ZNF229	-	pfscan_Znf_C2H2	ENSG00000167383		0.512	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1		0	11	0	G	NM_014518		44932920	-1			no_errors	ENST00000588931	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.997	C	C	44932920	G	C	44932920	3	2	45	1	0	0	0	0	1	0	0	0	17830	1145	40	5	445	5	ZNF229	19	44932920	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2140809	44932920	14196063	251	11089											
SYT3	84258	genome.wustl.edu	37	chr19	51135688	51135688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctcggtttgaccccagCggccactgctgctgctgcag	4	10	13	14	2	0	1	0	1	0	0	1	1	0	1	3	3	5	6	3	3	0	2	rs141570463	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:51135688C>T	ENST00000338916.4	-	2	1162	c.529G>A	c.(529-531)Gct>Act	p.A177T	SYT3_ENST00000600079.1_Missense_Mutation_p.A177T|SYT3_ENST00000593901.1_Missense_Mutation_p.A177T|SYT3_ENST00000544769.1_Missense_Mutation_p.A177T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	177					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGACCCCAGCGGCCACTGCT	0.662																																																	0								C	THR/ALA,THR/ALA,THR/ALA	1,4403		0,1,2201	29	30	29		529,529,529	2.2	0.3	19	dbSNP_134	29	10,8590		0,10,4290	yes	missense,missense,missense	SYT3	NM_001160328.1,NM_001160329.1,NM_032298.2	58,58,58	0,11,6491	TT,TC,CC		0.1163,0.0227,0.0846	benign,benign,benign	177/591,177/591,177/591	51135688	11,12993	2202	4300	6502	SO:0001583	missense	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.529G>A	19.37:g.51135688C>T	ENSP00000340914:p.Ala177Thr		Q8N5Z1|Q8N640	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.A177T	ENST00000338916.4	37	c.529	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657292	0.29425	2.27E-4	0.001163	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.61859	0.07;0.07	4.71	2.19	0.27852	.	0.414870	0.18698	U	0.133666	T	0.35799	0.0944	N	0.14661	0.345	0.29323	N	0.867193	B	0.06786	0.001	B	0.01281	0.0	T	0.21484	-1.0244	10	0.38643	T	0.18	.	7.7098	0.28671	0.0:0.6851:0.0:0.3149	.	177	Q9BQG1	SYT3_HUMAN	T	177	ENSP00000340914:A177T;ENSP00000438883:A177T	ENSP00000340914:A177T	A	-	1	0	SYT3	55827500	0.097000	0.21791	0.347000	0.25668	0.989000	0.77384	0.623000	0.24447	0.509000	0.28195	-0.345000	0.07892	GCT	SYT3	-	NULL	ENSG00000213023		0.662	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1		0	23	0	C	NM_032298		51135688	-1			no_errors	ENST00000338916	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.609	T	T	51135688	C	T	51135688	3	4	45	1	0	0	0	0	1	0	0	0	15522	768	27	1	1271	1	SYT3	19	51135688	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	6202768	51135688	7993295	252	11090											
NLRP2	55655	genome.wustl.edu	37	chr19	55494276	55494276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcggtgtgctggatcGtgtgcacgactctgaagctg	5	9	14	13	4	1	1	0	1	1	0	2	3	1	2	2	2	3	3	2	2	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:55494276G>A	ENST00000543010.1	+	6	1353	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	NLRP2_ENST00000448584.2_Missense_Mutation_p.V404M|NLRP2_ENST00000537859.1_Missense_Mutation_p.V382M|NLRP2_ENST00000427260.2_Missense_Mutation_p.V381M|NLRP2_ENST00000391721.4_Missense_Mutation_p.V380M|NLRP2_ENST00000263437.6_Missense_Mutation_p.V401M|NLRP2_ENST00000339757.7_Missense_Mutation_p.V382M|NLRP2_ENST00000538819.1_Missense_Mutation_p.V380M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	404	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGCTGGATCGTGTGCACGAC	0.642																																																	0													41	39	40					19																	55494276		2201	4300	6501	SO:0001583	missense	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1210G>A	19.37:g.55494276G>A	ENSP00000445135:p.Val404Met		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V404M	ENST00000543010.1	37	c.1210	CCDS12913.1	19	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610101	0.28712	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.77620	-1.08;-1.0;-1.01;-1.08;-1.01;-1.11;-1.0;-1.09	1.64	-3.28	0.05033	NACHT nucleoside triphosphatase (1);	1.467820	0.05194	N	0.503598	D	0.87042	0.6079	M	0.90977	3.165	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.991;0.991;0.98;0.991;0.98	T	0.73442	-0.3981	10	0.72032	D	0.01	.	0.584	0.00717	0.4114:0.1813:0.2244:0.1829	.	381;382;401;380;404	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	M	404;380;382;404;382;381;380;401	ENSP00000445135:V404M;ENSP00000375601:V380M;ENSP00000344074:V382M;ENSP00000409370:V404M;ENSP00000440601:V382M;ENSP00000402474:V381M;ENSP00000441133:V380M;ENSP00000263437:V401M	ENSP00000263437:V401M	V	+	1	0	NLRP2	60186088	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	-0.159000	0.10056	-1.072000	0.03141	-1.154000	0.01816	GTG	NLRP2	-	pfscan_NACHT_NTPase	ENSG00000022556		0.642	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0	12	0	G	NM_017852		55494276	1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.099	A	A	55494276	G	A	55494276	3	1	45	1	0	0	0	0	1	0	0	0	10516	1145	40	1	1228	1	NLRP2	19	55494276	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	4358588	55494276	3634707	253	11091											
ZNF446	55663	genome.wustl.edu	37	chr19	58991386	58991386	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgcagaagcctgcgctcgGgtgagtgccccacaccatcc	7	7	11	16	2	1	2	0	1	1	1	3	2	2	2	5	1	4	2	5	1	1	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr19:58991386G>A	ENST00000594369.1	+	6	1183	c.802G>A	c.(802-804)Gga>Aga	p.G268R	ZNF446_ENST00000335841.4_Splice_Site_p.R239R|ZNF446_ENST00000596341.1_Splice_Site_p.E268K	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	268					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGCGCTCGGGTGAGTGCCC	0.672																																																	0													9	11	10					19																	58991386		2175	4275	6450	SO:0001630	splice_region_variant	0				CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"Zinc fingers, C2H2-type", "-", "-", "-"	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.802+1G>A	19.37:g.58991386G>A				Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G268R	ENST00000594369.1	37	c.802	CCDS12982.1	19	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006409	0.54361	.	.	ENSG00000083838	ENST00000335841;ENST00000540481;ENST00000391694	T	0.06068	3.35	2.93	2.93	0.34026	.	0.877773	0.09301	N	0.821003	T	0.04770	0.0129	N	0.08118	0	0.23030	N	0.998409	D	0.54047	0.964	P	0.47941	0.562	T	0.33599	-0.9862	10	0.14252	T	0.57	-3.7545	9.5654	0.39396	0.0:0.0:1.0:0.0	.	268	Q9NWS9	ZN446_HUMAN	R	268;268;165	ENSP00000336565:G268R	ENSP00000336565:G268R	G	+	1	0	ZNF446	63683198	0.427000	0.25514	0.877000	0.34402	0.160000	0.22226	0.389000	0.20751	1.946000	0.56461	0.655000	0.94253	GGA	ZNF446	-	NULL	ENSG00000083838		0.672	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	HGNC	protein_coding	OTTHUMT00000467052.1	-	0	35	0	G	NM_017908	Missense_Mutation	58991386	1	tier1	-	no_errors	ENST00000594369	ensembl	human	known	74_37	missense	17.72	65	14	SNP	0.530	A	A	58991386	G	A	58991386	5	1	45	1	0	0	0	0	0	0	1	0	17967	1246	43	3	820	3	ZNF446	19	58991386	Splice_Site	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3497110	58991386	137597	254	11092											
SIRPB1	10326	genome.wustl.edu	37	chr20	1592048	1592048	+	Intron	DEL	G	G	-																															tccagacttaaactccacgtGgtcggggctccctttccgga																								rs372728073|rs45545343	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:1592048delG	ENST00000381605.4	-	1	141				SIRPB1_ENST00000279477.7_Frame_Shift_Del_p.H130fs|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Frame_Shift_Del_p.H130fs|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AACTCCACGTGGTCGGGGCTC	0.517																																																	0									,,	293,1373		143,7,683	110	108	108		,,	1.4	0	20		91	398,4888		193,12,2438	no	intron,frameshift,intron	SIRPB1	NM_006065.3,NM_001135844.2,NM_001083910.2	,,	336,19,3121	A1A1,A1R,RR		7.5293,17.587,9.9396	,,	,,	1592048	691,6261	242	939	1181	SO:0001627	intron_variant	0			Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8466C>-	20.37:g.1592048delG			A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Frame_Shift_Del	DEL	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.H130fs	ENST00000381605.4	37	c.388	CCDS13019.1	20																																																																																			SIRPB1	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000101307		0.517	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRPB1	HGNC	protein_coding	OTTHUMT00000077555.2		0	17	0	G	NM_006065		1592048	-1			no_errors	ENST00000279477	ensembl	human	known	74_37	frame_shift_del	8.75	73	7	DEL	0.000	0	-	1592048	G	-	1592048	6	5	45	0	1	1	0	1	0	0	0	0	14378	1348	47	0		0	SIRPB1	20	1592048	Intron	DEL	G	TCGA-JY-A93E-01A-11D-A37C-09		1592048	61433472	255	11093											
ISM1	140862	genome.wustl.edu	37	chr20	13279982	13279982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggacgtcctgccctggaTtatctgcaagggtgactgga	7	10	15	9	1	1	1	0	1	1	0	2	4	2	4	2	5	2	1	2	5	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:13279982T>C	ENST00000262487.4	+	6	1277	c.1271T>C	c.(1270-1272)aTt>aCt	p.I424T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	424	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTGCCCTGGATTATCTGCAAG	0.612																																																	0													36	42	40					20																	13279982		2093	4224	6317	SO:0001583	missense	0			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1271T>C	20.37:g.13279982T>C	ENSP00000262487:p.Ile424Thr		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.I424T	ENST00000262487.4	37	c.1271	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288289	0.80803	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.54071	0.59;0.61	5.98	5.98	0.97165	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.72171	-0.4371	10	0.87932	D	0	-6.0708	16.4496	0.83976	0.0:0.0:0.0:1.0	.	424	B1AKI9	ISM1_HUMAN	T	424;378	ENSP00000262487:I424T;ENSP00000409938:I378T	ENSP00000262487:I424T	I	+	2	0	ISM1	13227982	1.000000	0.71417	0.940000	0.37924	0.996000	0.88848	8.003000	0.88520	2.284000	0.76573	0.533000	0.62120	ATT	ISM1	-	pfam_AMOP,smart_AMOP,pfscan_AMOP	ENSG00000101230		0.612	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	-	0	8	0	T			13279982	1	tier1	-	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	C	C	13279982	T	C	13279982	3	2	45	1	0	0	0	0	1	0	0	0	7887	1493	52	4	1293	4	ISM1	20	13279982	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	11687934	13279982	49745538	256	11094											
RRBP1	6238	genome.wustl.edu	37	chr20	17608209	17608212	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															agggcctcaatggaacggatTctctctgtgagctgggagtt																										TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	TCTC	TCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:17608209_17608212delTCTC	ENST00000377813.1	-	10	3168_3171	c.2865_2868delGAGA	c.(2863-2868)gagagafs	p.ER955fs	RRBP1_ENST00000246043.4_Frame_Shift_Del_p.ER955fs|RRBP1_ENST00000377807.2_Frame_Shift_Del_p.ER522fs|RRBP1_ENST00000455029.2_Frame_Shift_Del_p.ER296fs|RRBP1_ENST00000360807.4_Frame_Shift_Del_p.ER522fs			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	955					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.R523I(1)|p.R956I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TGGAACGGATTCTCTCTGTGAGCT	0.667																																																	2	Substitution - Missense(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2865_2868delGAGA	20.37:g.17608209_17608212delTCTC	ENSP00000367044:p.Glu955fs		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Frame_Shift_Del	DEL	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.R956fs	ENST00000377813.1	37	c.2868_2865		20																																																																																			RRBP1	-	NULL	ENSG00000125844		0.667	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1		0	10	0	TCTC	NM_001042576		17608212	-1	tier1		no_errors	ENST00000246043	ensembl	human	known	74_37	frame_shift_del	21.95	32	9	DEL	0.963:0.997:1.000:1.000	-	-	17608212	TCTC	-	17608209	7	5	45	1	0	1	0	1	0	0	0	0	13723	1780	62	0	1428	0	RRBP1	20	17608209	Frame_Shift_Del	DEL	TCTC	TCGA-JY-A93E-01A-11D-A37C-09	4328227	17608209	45417311	257	11095											
C20orf26	26074	genome.wustl.edu	37	chr20	20180466	20180466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcattacttggttcccGtgcgaccacgacgacagatt	8	11	8	14	4	1	1	1	0	0	1	2	4	2	1	3	1	2	1	3	1	1	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:20180466G>A	ENST00000245957.5	+	17	1928	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		618										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTTGGTTCCCGTGCGACCACG	0.532																																																	0													156	138	144					20																	20180466		2203	4300	6503	SO:0001583	missense	0																														ENST00000245957.5:c.1852G>A	20.37:g.20180466G>A	ENSP00000245957:p.Val618Met		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.V618M	ENST00000245957.5	37	c.1852	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995633	0.74703	.	.	ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	T	0.58210	0.35	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.75162	0.3812	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.77678	-0.2498	10	0.87932	D	0	.	19.5625	0.95378	0.0:0.0:1.0:0.0	.	598;618	F8W6K4;Q8NHU2	.;CT026_HUMAN	M	558;186;598;618	ENSP00000245957:V618M	ENSP00000245957:V618M	V	+	1	0	C20orf26	20128466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.319000	0.79040	2.620000	0.88729	0.563000	0.77884	GTG	C20orf26	-	NULL	ENSG00000089101		0.532	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3		0	13	0	G			20180466	1			no_errors	ENST00000245957	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	A	A	20180466	G	A	20180466	3	1	45	1	0	0	0	0	1	0	0	0	2113	1145	40	1	1946	1	C20orf26	20	20180466	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2572257	20180466	42845054	258	11096											
FOXA2	3170	genome.wustl.edu	37	chr20	22563118	22563118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcgcttctggcggcgcagGtagcagccgttctcgaacat	8	8	13	12	5	2	0	0	0	2	0	3	1	2	0	1	3	4	5	1	3	3	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:22563118G>A	ENST00000377115.4	-	3	925	c.744C>T	c.(742-744)taC>taT	p.Y248Y	FOXA2_ENST00000419308.2_Silent_p.Y254Y	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	248					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCGGCGCAGGTAGCAGCCGT	0.687																																																	0													13	16	15					20																	22563118		2200	4298	6498	SO:0001819	synonymous_variant	0			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.744C>T	20.37:g.22563118G>A			Q8WUW4|Q96DF7	Silent	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Y254	ENST00000377115.4	37	c.762	CCDS13147.1	20																																																																																			FOXA2	-	pfam_TF_fork_head,pfscan_TF_fork_head	ENSG00000125798		0.687	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1		0	11	0	G			22563118	-1			no_errors	ENST00000419308	ensembl	human	known	74_37	silent	11.11	56	7	SNP	1.000	A	A	22563118	G	A	22563118	2	1	45	1	0	0	0	0	0	0	0	1	6012	1256	44	3		3	FOXA2	20	22563118	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2382652	22563118	40462402	259	11097											
SLC32A1	140679	genome.wustl.edu	37	chr20	37357187	37357187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcttcttcgacgtcGccatcttcgtcatcggcggc	6	11	9	15	6	4	0	1	0	3	0	8	1	4	0	2	2	0	0	2	2	1	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:37357187G>A	ENST00000217420.1	+	2	1746	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	495					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)	p.A495T(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTTCGACGTCGCCATCTTCGT	0.647																																																	1	Substitution - Missense(1)	lung(1)											24	23	23					20																	37357187		2202	4300	6502	SO:0001583	missense	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1483G>A	20.37:g.37357187G>A	ENSP00000217420:p.Ala495Thr		Q8N489	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A495T	ENST00000217420.1	37	c.1483	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626666	0.28978	.	.	ENSG00000101438	ENST00000217420	T	0.02197	4.4	4.95	4.95	0.65309	.	0.112837	0.64402	D	0.000012	T	0.03220	0.0094	L	0.48642	1.525	0.58432	D	0.999996	P	0.35107	0.484	B	0.37601	0.254	T	0.57728	-0.7761	10	0.29301	T	0.29	-18.9514	11.1747	0.48593	0.0:0.0:0.8161:0.1839	.	495	Q9H598	VIAAT_HUMAN	T	495	ENSP00000217420:A495T	ENSP00000217420:A495T	A	+	1	0	SLC32A1	36790601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.508000	0.53378	2.455000	0.83008	0.655000	0.94253	GCC	SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.647	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1		0	16	0	G	NM_080552		37357187	1			no_errors	ENST00000217420	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.997	A	A	37357187	G	A	37357187	3	1	45	1	0	0	0	0	1	0	0	0	14610	1087	38	1	1489	1	SLC32A1	20	37357187	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	14794069	37357187	25668333	260	11098											
PTPRT	11122	genome.wustl.edu	37	chr20	41101125	41101125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgggtcaccgcgtagcCgaagggctcccactgcaggg	7	4	16	14	4	1	0	1	0	0	0	2	1	2	0	3	3	3	4	3	3	2	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:41101125C>T	ENST00000373187.1	-	8	1230	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	PTPRT_ENST00000373198.4_Missense_Mutation_p.G411S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G411S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G411S|PTPRT_ENST00000373184.1_Missense_Mutation_p.G411S|PTPRT_ENST00000373201.1_Missense_Mutation_p.G411S|PTPRT_ENST00000373190.1_Missense_Mutation_p.G411S			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	411	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G411S(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCGCGTAGCCGAAGGGCTCC	0.577																																																	1	Substitution - Missense(1)	prostate(1)											52	61	58					20																	41101125		2086	4236	6322	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1231G>A	20.37:g.41101125C>T	ENSP00000362283:p.Gly411Ser		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.G411S	ENST00000373187.1	37	c.1231	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991796	0.74703	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.46	4.5	0.54988	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.72353	2.195	0.80722	D	1	D;P	0.61697	0.99;0.953	P;B	0.47705	0.555;0.353	T	0.67229	-0.5723	10	0.62326	D	0.03	.	16.1321	0.81446	0.0:0.8659:0.1341:0.0	.	411;411	O14522-1;O14522	.;PTPRT_HUMAN	S	411	ENSP00000362286:G411S;ENSP00000362283:G411S;ENSP00000362289:G411S;ENSP00000348408:G411S;ENSP00000362294:G411S;ENSP00000362280:G411S;ENSP00000362297:G411S	ENSP00000348408:G411S	G	-	1	0	PTPRT	40534539	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	4.740000	0.62087	1.282000	0.44496	0.462000	0.41574	GGC	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	18	0	C			41101125	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	T	T	41101125	C	T	41101125	3	4	45	1	0	0	0	0	1	0	0	0	12857	652	23	1	3251	1	PTPRT	20	41101125	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	3743938	41101125	21924395	261	11099											
DNTTIP1	116092	genome.wustl.edu	37	chr20	44424030	44424030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagacaatgttggggaggAggtggacgcagagcagctga	11	5	19	6	2	0	3	0	1	0	2	0	7	0	6	0	5	2	4	0	5	1	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:44424030A>G	ENST00000372622.3	+	4	388	c.320A>G	c.(319-321)gAg>gGg	p.E107G		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	107						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GTTGGGGAGGAGGTGGACGCA	0.552																																																	0													58	39	46					20																	44424030		2203	4300	6503	SO:0001583	missense	0			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.320A>G	20.37:g.44424030A>G	ENSP00000361705:p.Glu107Gly		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	NULL	p.E107G	ENST00000372622.3	37	c.320	CCDS13369.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	15.34|15.34	2.805704|2.805704	0.50315|0.50315	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622;ENST00000449078;ENST00000415790|ENST00000435014	T;T|.	0.51817|.	0.77;0.69|.	5.47|5.47	4.36|4.36	0.52297|0.52297	.|.	0.511541|.	0.23668|.	N|.	0.045757|.	T|T	0.54598|0.54598	0.1868|0.1868	L|L	0.40543|0.40543	1.245|1.245	0.38545|0.38545	D|D	0.9493|0.9493	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.53982|0.53982	-0.8361|-0.8361	10|5	0.22706|.	T|.	0.39|.	-16.3686|-16.3686	10.5403|10.5403	0.45029|0.45029	0.9235:0.0:0.0765:0.0|0.9235:0.0:0.0765:0.0	.|.	107|.	Q9H147|.	TDIF1_HUMAN|.	G|G	107;102;67|34	ENSP00000361705:E107G;ENSP00000392509:E67G|.	ENSP00000361705:E107G|.	E|R	+|+	2|1	0|2	DNTTIP1|DNTTIP1	43857437|43857437	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	4.481000|4.481000	0.60250|0.60250	1.081000|1.081000	0.41110|0.41110	0.524000|0.524000	0.50904|0.50904	GAG|AGG	DNTTIP1	-	NULL	ENSG00000101457		0.552	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1		0	10	0	A	NM_052951		44424030	1			no_errors	ENST00000372622	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	G	G	44424030	A	G	44424030	3	3	45	1	0	0	0	0	1	0	0	0	4695	304	11	4	334	4	DNTTIP1	20	44424030	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09	3322905	44424030	18601490	262	11100											
MMP9	4318	genome.wustl.edu	37	chr20	44641948	44641948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccacaccgcagcccaCggctcccccgacggtctgcc	7	3	8	23	4	1	0	0	0	1	0	2	1	2	0	7	2	2	2	7	2	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:44641948C>T	ENST00000372330.3	+	9	1404	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	462					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T462M(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCGCAGCCCACGGCTCCCCCG	0.672											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											52	69	63					20																	44641948		2187	4274	6461	SO:0001583	missense	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1385C>T	20.37:g.44641948C>T	ENSP00000361405:p.Thr462Met	925	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.T462M	ENST00000372330.3	37	c.1385	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	C	13.09	2.134580	0.37630	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.22743	1.94	5.0	3.07	0.35406	.	4.226240	0.00597	N	0.000375	T	0.12689	0.0308	N	0.08118	0	0.09310	N	0.999999	P	0.34587	0.458	B	0.25614	0.062	T	0.28396	-1.0045	10	0.87932	D	0	.	8.7932	0.34863	0.0:0.8244:0.0:0.1756	.	462	P14780	MMP9_HUMAN	M	462;107	ENSP00000361405:T462M	ENSP00000361405:T462M	T	+	2	0	MMP9	44075355	0.350000	0.24878	0.019000	0.16419	0.259000	0.26198	1.957000	0.40392	0.695000	0.31675	-0.136000	0.14681	ACG	MMP9	-	NULL	ENSG00000100985		0.672	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1		0	21	0	C			44641948	1			no_errors	ENST00000372330	ensembl	human	known	74_37	missense	8.42	87	8	SNP	0.077	T	T	44641948	C	T	44641948	3	4	45	1	0	0	0	0	1	0	0	0	9707	536	19	1	1419	1	MMP9	20	44641948	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	217918	44641948	18383572	263	11101											
STAU1	6780	genome.wustl.edu	37	chr20	47734363	47734363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgctcagagggtctcGtgagaggtccatggggtacg	7	9	16	9	2	2	2	1	1	1	2	4	3	3	2	2	4	2	3	2	4	1	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:47734363G>A	ENST00000371856.2	-	11	1870	c.1460C>T	c.(1459-1461)aCg>aTg	p.T487M	STAU1_ENST00000360426.4_Missense_Mutation_p.T406M|STAU1_ENST00000371828.3_Missense_Mutation_p.T412M|STAU1_ENST00000340954.7_Missense_Mutation_p.T406M|STAU1_ENST00000371792.1_Missense_Mutation_p.T404M|STAU1_ENST00000347458.5_Missense_Mutation_p.T406M|STAU1_ENST00000371802.1_Missense_Mutation_p.T412M	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	487					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGAGGGTCTCGTGAGAGGTCC	0.527																																																	0													88	83	85					20																	47734363		2203	4300	6503	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1460C>T	20.37:g.47734363G>A	ENSP00000360922:p.Thr487Met		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.T487M	ENST00000371856.2	37	c.1460	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650926	0.47362	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792	D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.62	3.7	0.42460	.	0.144614	0.64402	N	0.000006	T	0.72890	0.3517	L	0.41710	1.295	0.80722	D	1	P;B	0.39071	0.658;0.403	B;B	0.30316	0.114;0.068	T	0.71991	-0.4425	10	0.54805	T	0.06	-8.0263	12.2062	0.54353	0.1373:0.0:0.8627:0.0	.	487;412	O95793;Q5JW29	STAU1_HUMAN;.	M	412;406;487;406;406;406;412;404	ENSP00000360893:T412M;ENSP00000345425:T406M;ENSP00000360922:T487M;ENSP00000353604:T406M;ENSP00000323443:T406M;ENSP00000360867:T412M;ENSP00000360857:T404M	ENSP00000345425:T406M	T	-	2	0	STAU1	47167770	1.000000	0.71417	0.747000	0.31113	0.971000	0.66376	6.183000	0.72002	0.749000	0.32854	-0.133000	0.14855	ACG	STAU1	-	NULL	ENSG00000124214		0.527	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	-	0	24	0	G	NM_017453		47734363	-1	tier1	-	no_errors	ENST00000371856	ensembl	human	known	74_37	missense	12.62	90	13	SNP	0.998	A	A	47734363	G	A	47734363	3	1	45	1	0	0	0	0	1	0	0	0	15319	1145	40	1	289	1	STAU1	20	47734363	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3092415	47734363	15291157	264	11102											
MC3R	4159	genome.wustl.edu	37	chr20	54824550	54824550	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctttgcgcggctgcaCgtcaagcgcatagcagcact	7	10	10	14	4	2	0	1	0	1	0	3	0	3	0	1	1	5	5	1	1	2	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:54824550C>T	ENST00000243911.2	+	1	763	c.651C>T	c.(649-651)caC>caT	p.H217H		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGCGGCTGCACGTCAAGCGCA	0.577																																																	0													188	133	152					20																	54824550		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.651C>T	20.37:g.54824550C>T			Q4KN27|Q9H517	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.H217	ENST00000243911.2	37	c.651	CCDS13449.2	20																																																																																			MC3R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt	ENSG00000124089		0.577	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2	-	0	18	0	C			54824550	1	tier1	-	no_errors	ENST00000243911	ensembl	human	known	74_37	silent	33.87	41	21	SNP	1.000	T	T	54824550	C	T	54824550	2	4	45	1	0	0	0	0	0	0	0	1	9403	535	19	1		1	MC3R	20	54824550	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	7090187	54824550	8200970	265	11103											
AURKA	6790	genome.wustl.edu	37	chr20	54961428	54961428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattctgaaccggcttGtgactggagacaagcttttg	8	14	11	8	1	2	4	0	3	2	1	2	5	2	4	1	2	2	2	1	2	2	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:54961428G>C	ENST00000347343.2	-	3	471	c.204C>G	c.(202-204)caC>caG	p.H68Q	AURKA_ENST00000395909.4_Missense_Mutation_p.H68Q|AURKA_ENST00000395915.3_Missense_Mutation_p.H68Q|AURKA_ENST00000395907.1_Missense_Mutation_p.H68Q|AURKA_ENST00000312783.6_Missense_Mutation_p.H68Q|AURKA_ENST00000395911.1_Missense_Mutation_p.H68Q|AURKA_ENST00000395914.1_Missense_Mutation_p.H68Q|AURKA_ENST00000371356.2_Missense_Mutation_p.H68Q|AURKA_ENST00000395913.3_Missense_Mutation_p.H68Q	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	68					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GAACCGGCTTGTGACTGGAGA	0.502																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)												0													142	130	134					20																	54961428		2203	4300	6503	SO:0001583	missense	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11393	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 47", "Aurora-A kinase"	603072	"serine/threonine kinase 15", " serine/threonine kinase 6"	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.204C>G	20.37:g.54961428G>C	ENSP00000216911:p.His68Gln		E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H68Q	ENST00000347343.2	37	c.204	CCDS13451.1	20	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.679013	0.00751	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249;ENST00000451915	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08;-0.35;0.11;2.87;2.7;2.6;2.36	3.8	-7.6	0.01303	.	0.753581	0.12256	N	0.485151	T	0.29652	0.0740	N	0.11201	0.11	0.09310	N	0.999999	B;B;B;B;B;B;B	0.10296	0.0;0.003;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.08055	0.0;0.003;0.001;0.001;0.0;0.0;0.001	T	0.38607	-0.9653	10	0.07030	T	0.85	-7.1362	0.9661	0.01406	0.1714:0.3048:0.2077:0.3162	.	68;68;68;68;68;68;68	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	Q	68	ENSP00000379245:H68Q;ENSP00000379250:H68Q;ENSP00000216911:H68Q;ENSP00000379251:H68Q;ENSP00000321591:H68Q;ENSP00000360407:H68Q;ENSP00000379249:H68Q;ENSP00000379247:H68Q;ENSP00000379243:H68Q;ENSP00000393452:H68Q;ENSP00000388073:H68Q;ENSP00000405042:H68Q;ENSP00000405170:H68Q;ENSP00000401358:H68Q	ENSP00000321591:H68Q	H	-	3	2	AURKA	54394835	0.003000	0.15002	0.000000	0.03702	0.010000	0.07245	-2.478000	0.00984	-2.725000	0.00387	-0.136000	0.14681	CAC	AURKA	-	NULL	ENSG00000087586		0.502	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	-	0	25	0	G	NM_003600		54961428	-1	tier1	-	no_errors	ENST00000312783	ensembl	human	known	74_37	missense	18.57	57	13	SNP	0.001	C	C	54961428	G	C	54961428	3	2	45	1	0	0	0	0	1	0	0	0	1222	1368	48	5	1035	5	AURKA	20	54961428	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	136878	54961428	8064092	266	11104											
CHRNA4	1137	genome.wustl.edu	37	chr20	61981753	61981753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgggcatggtgtgcGtgcgtggcgagcggtggtgc	3	8	21	9	4	0	0	0	0	0	0	0	1	0	0	1	6	4	1	1	6	0	0	rs201673381		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr20:61981753G>A	ENST00000370263.4	-	5	1231	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	337					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CATGGTGTGCGTGCGTGGCGA	0.622																																																	0								G	MET/THR	0,4406		0,0,2203	171	120	137		1010	5.2	0.9	20		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRNA4	NM_000744.5	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	337/628	61981753	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1010C>T	20.37:g.61981753G>A	ENSP00000359285:p.Thr337Met		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T337M	ENST00000370263.4	37	c.1010	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338663	0.81911	0.0	1.16E-4	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.87809	-2.3	5.15	5.15	0.70609	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.94476	0.7689	10	0.72032	D	0.01	.	18.6226	0.91326	0.0:0.0:1.0:0.0	.	266;337	Q4VAQ5;P43681	.;ACHA4_HUMAN	M	243;337;266	ENSP00000359285:T337M	ENSP00000359280:T243M	T	-	2	0	CHRNA4	61452197	1.000000	0.71417	0.937000	0.37676	0.574000	0.36063	7.777000	0.85628	2.390000	0.81377	0.655000	0.94253	ACG	CHRNA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000101204		0.622	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	-	0	18	0	G			61981753	-1	tier1	rs201673381	no_errors	ENST00000370263	ensembl	human	known	74_37	missense	18.00	40	9	SNP	1.000	A	A	61981753	G	A	61981753	3	1	45	1	0	0	0	0	1	0	0	0	3392	1145	40	1	881	1	CHRNA4	20	61981753	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	7020325	61981753	1043767	267	11105											
KRTAP10-5	386680	genome.wustl.edu	37	chr21	45999672	45999672	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagcacgcggggcggcAgaggagggacacgcaggagg	9	0	23	9	5	0	1	0	0	0	1	0	5	0	5	0	8	1	3	0	8	0	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr21:45999672A>C	ENST00000400372.1	-	1	809	c.784T>G	c.(784-786)Tgc>Ggc	p.C262G	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	262						keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCGGGGCGGCAGAGGAGGGAC	0.701																																																	0													26	34	32					21																	45999672		2190	4274	6464	SO:0001583	missense	0			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"Keratin associated proteins"	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.784T>G	21.37:g.45999672A>C	ENSP00000383223:p.Cys262Gly		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	NULL	p.C262G	ENST00000400372.1	37	c.784	CCDS42958.1	21	.	.	.	.	.	.	.	.	.	.	a	11.43	1.635038	0.29068	.	.	ENSG00000241123	ENST00000400372	T	0.00995	5.46	3.83	3.83	0.44106	.	.	.	.	.	T	0.06645	0.0170	M	0.89715	3.055	0.29715	N	0.839104	D	0.76494	0.999	D	0.79108	0.992	T	0.01269	-1.1400	9	0.62326	D	0.03	.	10.8456	0.46741	1.0:0.0:0.0:0.0	.	262	P60370	KR105_HUMAN	G	262	ENSP00000383223:C262G	ENSP00000383223:C262G	C	-	1	0	KRTAP10-5	44824100	0.968000	0.33430	0.997000	0.53966	0.059000	0.15707	1.922000	0.40045	1.716000	0.51395	0.374000	0.22700	TGC	KRTAP10-5	-	NULL	ENSG00000241123		0.701	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-5	HGNC	protein_coding	OTTHUMT00000128042.1	-	0	47	0	A			45999672	-1	tier1	-	no_errors	ENST00000400372	ensembl	human	known	74_37	missense	26.56	94	34	SNP	0.980	C	C	45999672	A	C	45999672	3	2	45	1	0	0	0	0	1	0	0	0	8539	188	7	4	35	4	KRTAP10-5	21	45999672	Missense_Mutation	SNP	A	TCGA-JY-A93E-01A-11D-A37C-09		45999672	2130223	268	11106											
PCNT	5116	genome.wustl.edu	37	chr21	47783684	47783684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctggagaggtccttgaCggagcagcagggccgcctgc	7	6	17	11	2	1	2	0	1	1	1	2	5	2	4	3	5	3	2	3	5	0	1	rs201895762	byFrequency	TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr21:47783684C>T	ENST00000359568.5	+	14	2551	c.2444C>T	c.(2443-2445)aCg>aTg	p.T815M	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	815					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGTCCTTGACGGAGCAGCAG	0.592													C|||	3	0.000599042	8e-04	0	5008	,	,		17719	0		0	False		,,,				2504	0.002																0													58	61	60					21																	47783684		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2444C>T	21.37:g.47783684C>T	ENSP00000352572:p.Thr815Met		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.T815M	ENST00000359568.5	37	c.2444	CCDS33592.1	21	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.412	-0.335029	0.05278	.	.	ENSG00000160299	ENST00000359568	T	0.23348	1.91	5.26	-10.5	0.00291	.	3.825560	0.00832	N	0.001669	T	0.10637	0.0260	N	0.14661	0.345	0.09310	N	1	B;B	0.27498	0.029;0.18	B;B	0.14578	0.003;0.011	T	0.11203	-1.0597	10	0.44086	T	0.13	.	3.0312	0.06108	0.2932:0.3664:0.2374:0.103	.	697;815	O95613-2;O95613	.;PCNT_HUMAN	M	815	ENSP00000352572:T815M	ENSP00000352572:T815M	T	+	2	0	PCNT	46608112	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	-0.474000	0.06607	-3.250000	0.00204	-1.105000	0.02106	ACG	PCNT	-	NULL	ENSG00000160299		0.592	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0	9	0	C	NM_006031		47783684	1			no_errors	ENST00000359568	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.000	T	T	47783684	C	T	47783684	3	4	45	1	0	0	0	0	1	0	0	0	11629	536	19	1	2498	1	PCNT	21	47783684	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	1784012	47783684	346211	269	11107											
CSF2RB	1439	genome.wustl.edu	37	chr22	37333909	37333909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggccaagggtgggaggacagGaccaaaaggacagccctgtg	12	3	17	9	0	0	0	0	0	0	0	0	4	0	4	3	6	1	0	3	6	3	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr22:37333909G>C	ENST00000403662.3	+	14	2281	c.2059G>C	c.(2059-2061)Gac>Cac	p.D687H	CSF2RB_ENST00000262825.5_Missense_Mutation_p.D693H|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D693H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D634H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	687					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGGAGGACAGGACCAAAAGGA	0.637																																																	0													40	44	43					22																	37333909		2203	4300	6503	SO:0001583	missense	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2059G>C	22.37:g.37333909G>C	ENSP00000384053:p.Asp687His		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D693H	ENST00000403662.3	37	c.2077	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	14.28	2.489143	0.44249	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.92397	-2.52;-3.03;-3.03;-3.03	4.29	2.03	0.26663	.	1.910350	0.02581	N	0.098822	D	0.93080	0.7797	L	0.44542	1.39	0.09310	N	1	D;D	0.71674	0.998;0.997	P;P	0.61592	0.891;0.781	T	0.81688	-0.0819	10	0.52906	T	0.07	.	5.2863	0.15702	0.1127:0.2097:0.6775:0.0	.	693;687	P32927-2;P32927	.;IL3RB_HUMAN	H	687;687;693;693;634	ENSP00000384053:D687H;ENSP00000262825:D693H;ENSP00000385271:D693H;ENSP00000440003:D634H	ENSP00000262825:D693H	D	+	1	0	CSF2RB	35663855	0.012000	0.17670	0.032000	0.17829	0.093000	0.18481	1.727000	0.38095	1.169000	0.42739	0.557000	0.71058	GAC	CSF2RB	-	pirsf_IL3_rcpt_beta	ENSG00000100368		0.637	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1		0	18	0	G	NM_000395		37333909	1			no_errors	ENST00000262825	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.011	C	C	37333909	G	C	37333909	3	2	45	1	0	0	0	0	1	0	0	0	3944	1174	41	5	2109	5	CSF2RB	22	37333909	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		37333909	13970657	270	11108											
TNRC6B	23112	genome.wustl.edu	37	chr22	40661099	40661099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattggaggaatgtgagtGgtcaggatagaattggacct	13	10	15	3	0	1	2	1	1	0	1	1	7	1	6	1	5	0	0	1	5	4	3			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr22:40661099G>T	ENST00000454349.2	+	5	1076	c.865G>T	c.(865-867)Ggt>Tgt	p.G289C	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G289C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	289	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GAATGTGAGTGGTCAGGATAG	0.463																																																	0													99	96	97					22																	40661099		1911	4130	6041	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.865G>T	22.37:g.40661099G>T	ENSP00000401946:p.Gly289Cys		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G289C	ENST00000454349.2	37	c.865	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492296	0.26774	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.55588	0.51;0.51	5.07	3.0	0.34707	.	0.325380	0.34777	N	0.003687	T	0.56934	0.2019	L	0.29908	0.895	0.35631	D	0.810246	P;D;D	0.89917	0.927;0.999;1.0	P;P;D	0.68353	0.554;0.907;0.957	T	0.65664	-0.6113	10	0.72032	D	0.01	-1.4203	10.5052	0.44830	0.157:0.0:0.843:0.0	.	289;289;289	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	289	ENSP00000401946:G289C;ENSP00000338371:G289C	ENSP00000338371:G289C	G	+	1	0	TNRC6B	38991045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.929000	0.56514	0.559000	0.29153	-0.143000	0.13931	GGT	TNRC6B	-	NULL	ENSG00000100354		0.463	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding			0	11	0	G			40661099	1			no_errors	ENST00000454349	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	40661099	G	T	40661099	3	4	45	1	0	0	0	0	1	0	0	0	16388	1348	47	3	1004	3	TNRC6B	22	40661099	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	3327190	40661099	10643467	271	11109											
A4GALT	53947	genome.wustl.edu	37	chr22	43089313	43089313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccaggaacgcgccgttgagGacgtagcgggactgggtgcc	7	5	18	11	5	0	1	0	1	0	0	0	4	0	4	3	4	3	2	3	4	2	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chr22:43089313G>A	ENST00000401850.1	-	2	1134	c.645C>T	c.(643-645)gtC>gtT	p.V215V	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.V215V|A4GALT_ENST00000381278.3_Silent_p.V215V			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	215					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CGCCGTTGAGGACGTAGCGGG	0.612																																																	0													46	37	40					22																	43089313		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"Gb3 synthase", "CD77 synthase", "globotriaosylceramide synthase", "lactosylceramide 4-alpha-galactosyltransferase"	607922	"alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.645C>T	22.37:g.43089313G>A			B2R7C4|Q9P1X5	Silent	SNP	pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS	p.V215	ENST00000401850.1	37	c.645	CCDS14041.1	22																																																																																			A4GALT	-	NULL	ENSG00000128274		0.612	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	A4GALT	HGNC	protein_coding	OTTHUMT00000319917.1	-	0	20	0	G	NM_017436		43089313	-1	tier1	-	no_errors	ENST00000249005	ensembl	human	known	74_37	silent	61.54	15	24	SNP	0.987	A	A	43089313	G	A	43089313	2	1	45	1	0	0	0	0	0	0	0	1	6	1161	41	3		3	A4GALT	22	43089313	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	2428214	43089313	8215253	272	11110											
WWC3	55841	genome.wustl.edu	37	chrX	10046905	10046905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagcagaaatagcaagtcGtcgggatagggtgagtaaaa	17	7	13	4	2	0	2	0	1	0	1	2	3	0	3	0	2	2	3	0	2	8	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:10046905G>T	ENST00000380861.4	+	4	678	c.287G>T	c.(286-288)cGt>cTt	p.R96L	WWC3_ENST00000454666.1_Missense_Mutation_p.R96L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	96					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ATAGCAAGTCGTCGGGATAGG	0.413																																																	0													113	104	107					X																	10046905		2203	4300	6503	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.287G>T	X.37:g.10046905G>T	ENSP00000370242:p.Arg96Leu		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_dom	p.R96L	ENST00000380861.4	37	c.287	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239150	0.79800	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	T;T	0.04917	3.53;3.53	5.35	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.20495	0.0493	M	0.63428	1.95	0.58432	D	0.999995	D	0.76494	0.999	D	0.75020	0.985	T	0.00353	-1.1795	10	0.45353	T	0.12	-13.2111	13.1469	0.59467	0.0809:0.0:0.9191:0.0	.	96	Q9ULE0	WWC3_HUMAN	L	96	ENSP00000370242:R96L;ENSP00000399584:R96L	ENSP00000370242:R96L	R	+	2	0	WWC3	10006905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.279000	0.89901	1.159000	0.42565	0.600000	0.82982	CGT	WWC3	-	NULL	ENSG00000047644		0.413	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1		0	17	0	G	NM_015691		10046905	1			no_errors	ENST00000380861	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	10046905	G	T	10046905	3	4	45	1	0	0	0	0	1	0	0	0	17462	1145	40	2	297	2	WWC3	23	10046905	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09		10046905	145223655	273	11111											
SH3KBP1	30011	genome.wustl.edu	37	chrX	19713766	19713766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcctgggaaatgccaaGctcatccgactcccctgaca	10	8	7	16	1	2	1	2	1	0	0	5	3	5	2	5	1	2	1	5	1	2	0			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:19713766G>T	ENST00000397821.3	-	5	774	c.484C>A	c.(484-486)Ctt>Att	p.L162I	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.L125I|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.L162I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	162					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAAATGCCAAGCTCATCCGAC	0.557																																																	0													160	132	142					X																	19713766		2203	4300	6503	SO:0001583	missense	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.484C>A	X.37:g.19713766G>T	ENSP00000380921:p.Leu162Ile		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.L162I	ENST00000397821.3	37	c.484	CCDS14193.1	X	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786693	0.31593	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000397804;ENST00000379698;ENST00000379726;ENST00000379697;ENST00000432234;ENST00000431164	T;T;T;T;T;T	0.52526	1.37;1.41;1.24;1.08;0.66;0.8	5.94	5.94	0.96194	.	1.689670	0.03158	N	0.168861	T	0.41511	0.1162	L	0.46157	1.445	0.35778	D	0.821435	P;B	0.36086	0.536;0.278	B;B	0.21360	0.033;0.034	T	0.43343	-0.9397	10	0.37606	T	0.19	-9.739	9.3599	0.38190	0.0:0.1616:0.6888:0.1497	.	162;125	Q96B97;Q5JPT5	SH3K1_HUMAN;.	I	103;162;70;125;98;162;109;70	ENSP00000380921:L162I;ENSP00000369020:L125I;ENSP00000369049:L98I;ENSP00000369019:L162I;ENSP00000388766:L109I;ENSP00000409292:L70I	ENSP00000369019:L162I	L	-	1	0	SH3KBP1	19623687	0.999000	0.42202	0.983000	0.44433	0.938000	0.57974	2.821000	0.48065	2.509000	0.84616	0.529000	0.55759	CTT	SH3KBP1	-	NULL	ENSG00000147010		0.557	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1		0	9	0	G	NM_031892		19713766	-1			no_errors	ENST00000397821	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.504	T	T	19713766	G	T	19713766	3	4	45	1	0	0	0	0	1	0	0	0	14300	971	34	3	1585	3	SH3KBP1	23	19713766	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	9666861	19713766	135556794	274	11112											
DMD	1756	genome.wustl.edu	37	chrX	32328389	32328389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtttcttcacggacaGtgtgctggtatagatataca	10	14	9	8	2	3	1	2	0	1	1	4	2	3	2	0	2	2	3	0	2	4	6			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:32328389G>T	ENST00000357033.4	-	42	6133	c.5927C>A	c.(5926-5928)aCt>aAt	p.T1976N	DMD_ENST00000378677.2_Missense_Mutation_p.T1972N	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1976					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCACGGACAGTGTGCTGGTA	0.363																																																	0													82	69	73					X																	32328389		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5927C>A	X.37:g.32328389G>T	ENSP00000354923:p.Thr1976Asn		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.T1976N	ENST00000357033.4	37	c.5927	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077557	0.36662	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.49139	0.79;0.79	6.16	6.16	0.99307	.	0.000000	0.38058	U	0.001837	T	0.54240	0.1846	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.85130	0.994;0.997;0.997;0.997;0.997	T	0.48043	-0.9069	10	0.19590	T	0.45	.	17.89	0.88869	0.0:0.0:1.0:0.0	.	1968;1976;1972;635;632	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	N	1968;635;632;1972;1976;1976;1853	ENSP00000367948:T1972N;ENSP00000354923:T1976N	ENSP00000354923:T1976N	T	-	2	0	DMD	32238310	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.088000	0.76901	2.614000	0.88457	0.594000	0.82650	ACT	DMD	-	pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin	ENSG00000198947		0.363	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0	9	0	G	NM_004006		32328389	-1			no_errors	ENST00000357033	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	32328389	G	T	32328389	3	4	45	1	0	0	0	0	1	0	0	0	4594	1029	36	3	5430	3	DMD	23	32328389	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	12614623	32328389	122942171	275	11113											
ZXDA	7789	genome.wustl.edu	37	chrX	57935854	57935854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcttgccacagccctccGcagggcagccgaagggccgc	7	4	13	17	3	1	0	0	0	1	0	2	1	2	0	5	2	4	3	5	2	1	1			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:57935854G>A	ENST00000358697.4	-	1	1213	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	334	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A334V(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						ACAGCCCTCCGCAGGGCAGCC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)											38	37	37					X																	57935854		2203	4300	6503	SO:0001583	missense	0			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"Zinc fingers, C2H2-type"	13198	protein-coding gene	gene with protein product	"zinc finger protein 896"	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1001C>T	X.37:g.57935854G>A	ENSP00000351530:p.Ala334Val		Q9UJP7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A334V	ENST00000358697.4	37	c.1001	CCDS14376.1	X	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.428522	0.00184	.	.	ENSG00000198205	ENST00000358697	T	0.32753	1.44	3.34	-0.608	0.11611	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.398244	0.27345	N	0.019784	T	0.09598	0.0236	N	0.02391	-0.57	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.33497	-0.9866	9	.	.	.	.	7.5226	0.27637	0.6488:0.0:0.3512:0.0	.	334	P98168	ZXDA_HUMAN	V	334	ENSP00000351530:A334V	.	A	-	2	0	ZXDA	57952579	0.000000	0.05858	0.000000	0.03702	0.368000	0.29767	-0.389000	0.07342	-0.293000	0.08986	0.415000	0.27848	GCG	ZXDA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198205		0.597	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	HGNC	protein_coding	OTTHUMT00000056925.1	-	0	12	0	G	NM_007156		57935854	-1	tier1	-	no_errors	ENST00000358697	ensembl	human	known	74_37	missense	56.00	22	28	SNP	0.000	A	A	57935854	G	A	57935854	3	1	45	1	0	0	0	0	1	0	0	0	18298	1087	38	1	1402	1	ZXDA	23	57935854	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	25607465	57935854	97334706	276	11114											
NHSL2	340527	genome.wustl.edu	37	chrX	71359668	71359668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagtcatcactaccccCgacgtcaccaatggagaaat	14	6	9	12	2	3	1	3	0	0	1	3	5	3	2	3	2	1	0	3	2	4	1	rs370237961		TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:71359668C>T	ENST00000373677.1	+	2	2434	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	NHSL2_ENST00000510661.1_Missense_Mutation_p.P526L|NHSL2_ENST00000540800.1_Missense_Mutation_p.P757L|NHSL2_ENST00000535692.1_Missense_Mutation_p.P391L			Q5HYW2	NHSL2_HUMAN	NHS-like 2	391	Ser-rich.									NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCACTACCCCCGACGTCACCA	0.547																																																	0								C	LEU/PRO	0,3835		0,0,0,1632,571	139	101	114		2270	4.9	1	X		114	1,6727		0,0,1,2428,1871	no	missense	NHSL2	NM_001013627.2	98	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging	757/1226	71359668	1,10562	2203	4300	6503	SO:0001583	missense	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1172C>T	X.37:g.71359668C>T	ENSP00000362781:p.Pro391Leu		B2RN94	Missense_Mutation	SNP	NULL	p.P757L	ENST00000373677.1	37	c.2270		X	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764111	0.49574	0.0	1.49E-4	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.46451	1.48;0.89;0.87;0.89	5.75	4.87	0.63330	.	0.199999	0.34700	N	0.003754	T	0.45856	0.1363	L	0.51422	1.61	0.44366	D	0.997263	D;D;D	0.63880	0.966;0.993;0.981	P;P;P	0.49085	0.482;0.6;0.482	T	0.46512	-0.9186	10	0.66056	D	0.02	-5.0101	12.7169	0.57119	0.1655:0.8345:0.0:0.0	.	757;526;391	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	L	757;391;526;391	ENSP00000444617:P757L;ENSP00000362781:P391L;ENSP00000424079:P526L;ENSP00000444914:P391L	ENSP00000362781:P391L	P	+	2	0	NHSL2	71276393	0.849000	0.29639	0.997000	0.53966	0.963000	0.63663	3.079000	0.50104	1.159000	0.42565	0.600000	0.82982	CCG	NHSL2	-	NULL	ENSG00000204131		0.547	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0	12	0	C	NM_001013627		71359668	1	tier1	-	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	53.57	13	15	SNP	0.996	T	T	71359668	C	T	71359668	3	4	45	1	0	0	0	0	1	0	0	0	10451	652	23	1	2292	1	NHSL2	23	71359668	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	13423814	71359668	83910892	277	11115											
MAGEE2	139599	genome.wustl.edu	37	chrX	75003938	75003938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagccaactggaccaaatCatttgccttatcattcatag	14	12	5	10	0	3	0	3	0	0	0	3	1	3	1	3	1	3	0	3	1	6	5			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:75003938C>A	ENST00000373359.2	-	1	1141	c.949G>T	c.(949-951)Gat>Tat	p.D317Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	317	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGACCAAATCATTTGCCTTA	0.448																																																	0													97	82	87					X																	75003938		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.949G>T	X.37:g.75003938C>A	ENSP00000362457:p.Asp317Tyr		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.D317Y	ENST00000373359.2	37	c.949	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236665	0.39498	.	.	ENSG00000186675	ENST00000373359	T	0.04015	3.73	2.76	2.76	0.32466	.	.	.	.	.	T	0.10594	0.0259	L	0.55481	1.735	0.27711	N	0.945465	D	0.65815	0.995	P	0.55011	0.766	T	0.08911	-1.0699	9	0.46703	T	0.11	.	8.1526	0.31150	0.0:1.0:0.0:0.0	.	317	Q8TD90	MAGE2_HUMAN	Y	317	ENSP00000362457:D317Y	ENSP00000362457:D317Y	D	-	1	0	MAGEE2	74920663	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	2.078000	0.41567	1.638000	0.50547	0.422000	0.28245	GAT	MAGEE2	-	pfscan_MAGE	ENSG00000186675		0.448	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0	9	0	C	NM_138703		75003938	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	65.52	10	19	SNP	1.000	A	A	75003938	C	A	75003938	3	1	45	1	0	0	0	0	1	0	0	0	9224	826	29	3	626	3	MAGEE2	23	75003938	Missense_Mutation	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	3644270	75003938	80266622	278	11116											
MAGEE2	139599	genome.wustl.edu	37	chrX	75004272	75004272	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttatcccacatatcaacTtttagcagcaagtcccaaat	13	11	5	12	0	1	0	1	0	0	0	3	0	3	0	2	1	3	3	2	1	6	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:75004272T>G	ENST00000373359.2	-	1	807	c.615A>C	c.(613-615)aaA>aaC	p.K205N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	205	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACATATCAACTTTTAGCAGCA	0.493																																																	0													73	66	68					X																	75004272		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.615A>C	X.37:g.75004272T>G	ENSP00000362457:p.Lys205Asn		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K205N	ENST00000373359.2	37	c.615	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	T	7.836	0.720926	0.15372	.	.	ENSG00000186675	ENST00000373359	T	0.05382	3.45	2.96	0.931	0.19460	.	.	.	.	.	T	0.09862	0.0242	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.76575	0.988	T	0.31194	-0.9952	9	0.14252	T	0.57	.	4.5747	0.12226	0.0:0.6306:0.0:0.3694	.	205	Q8TD90	MAGE2_HUMAN	N	205	ENSP00000362457:K205N	ENSP00000362457:K205N	K	-	3	2	MAGEE2	74920997	0.972000	0.33761	0.002000	0.10522	0.098000	0.18820	0.208000	0.17415	0.100000	0.17581	0.345000	0.21793	AAA	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.493	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0	8	0	T	NM_138703		75004272	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.002	G	G	75004272	T	G	75004272	3	3	45	1	0	0	0	0	1	0	0	0	9224	1606	56	4	960	4	MAGEE2	23	75004272	Missense_Mutation	SNP	T	TCGA-JY-A93E-01A-11D-A37C-09	334	75004272	80266288	279	11117											
ZNF711	7552	genome.wustl.edu	37	chrX	84502618	84502618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggattgcacacgccaGactctagaatggcccatacc	10	9	9	13	1	2	2	0	0	2	2	2	3	2	3	3	2	2	1	3	2	3	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:84502618G>T	ENST00000373165.3	+	3	346	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	ZNF711_ENST00000395402.1_5'UTR|ZNF711_ENST00000276123.3_Missense_Mutation_p.D14Y|ZNF711_ENST00000360700.4_Missense_Mutation_p.D14Y	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	14					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCACACGCCAGACTCTAGAAT	0.333																																																	0													144	131	135					X																	84502618		2203	4300	6503	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.40G>T	X.37:g.84502618G>T	ENSP00000362260:p.Asp14Tyr		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D14Y	ENST00000373165.3	37	c.40	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	g	14.67	2.605579	0.46527	.	.	ENSG00000147180	ENST00000373165;ENST00000276123;ENST00000360700	T;T;T	0.08282	3.11;3.11;3.16	4.64	3.78	0.43462	.	0.460130	0.15273	U	0.271098	T	0.07638	0.0192	N	0.22421	0.69	0.80722	D	1	P;P	0.41848	0.763;0.454	B;B	0.40228	0.323;0.133	T	0.27571	-1.0070	10	0.72032	D	0.01	-0.9315	12.0307	0.53396	0.0868:0.0:0.9132:0.0	.	14;14	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	Y	14	ENSP00000362260:D14Y;ENSP00000276123:D14Y;ENSP00000353922:D14Y	ENSP00000276123:D14Y	D	+	1	0	ZNF711	84389274	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.251000	0.78297	0.872000	0.35775	0.509000	0.49947	GAC	ZNF711	-	NULL	ENSG00000147180		0.333	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2		0	16	0	G	NM_021998		84502618	1			no_errors	ENST00000276123	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	84502618	G	T	84502618	3	4	45	1	0	0	0	0	1	0	0	0	18164	942	33	3	42	3	ZNF711	23	84502618	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	9498346	84502618	70767942	280	11118											
COL4A6	1288	genome.wustl.edu	37	chrX	107464499	107464499	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggtccataaggtcccaGaaggcctgggaaaccccttt	9	11	10	11	0	0	1	0	0	0	1	2	2	2	2	5	4	1	0	5	4	3	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:107464499G>A	ENST00000372216.4	-	4	353	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	COL4A6_ENST00000538570.1_Silent_p.L84L|COL4A6_ENST00000545689.1_Silent_p.L84L|COL4A6_ENST00000334504.7_Silent_p.L84L|COL4A6_ENST00000394872.2_Silent_p.L84L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	85	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGGTCCCAGAAGGCCTGGG	0.468									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													165	143	151					X																	107464499		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"Collagens"	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.253C>T	X.37:g.107464499G>A			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L85	ENST00000372216.4	37	c.253	CCDS14541.1	X																																																																																			COL4A6	-	pfam_Collagen	ENSG00000197565		0.468	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	-	0	10	0	G			107464499	-1	tier1	-	no_errors	ENST00000372216	ensembl	human	known	74_37	silent	54.55	20	24	SNP	0.266	A	A	107464499	G	A	107464499	2	1	45	1	0	0	0	0	0	0	0	1	3702	933	33	3		3	COL4A6	23	107464499	Silent	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	22961881	107464499	47806061	281	11119											
SLC6A14	11254	genome.wustl.edu	37	chrX	115569091	115569091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattaggaaatgtgtggaGatttccatatctgacctaca	12	12	11	6	0	1	2	0	1	1	1	2	5	2	4	2	3	1	0	2	3	4	4			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:115569091G>T	ENST00000371900.4	+	2	270	c.182G>T	c.(181-183)aGa>aTa	p.R61I		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	61					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AATGTGTGGAGATTTCCATAT	0.453																																																	0													112	102	105					X																	115569091		2203	4300	6503	SO:0001583	missense	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.182G>T	X.37:g.115569091G>T	ENSP00000360967:p.Arg61Ile		Q5H942	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.R61I	ENST00000371900.4	37	c.182	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648633	0.87958	.	.	ENSG00000087916	ENST00000371900	D	0.84298	-1.83	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.94072	0.8100	H	0.95079	3.62	0.80722	D	1	D	0.62365	0.991	D	0.63793	0.918	D	0.95565	0.8633	10	0.87932	D	0	.	15.0443	0.71816	0.0:0.0:1.0:0.0	.	61	Q9UN76	S6A14_HUMAN	I	61	ENSP00000360967:R61I	ENSP00000360967:R61I	R	+	2	0	SLC6A14	115483119	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.953000	0.93041	2.435000	0.82474	0.600000	0.82982	AGA	SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000087916		0.453	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1		0	17	0	G			115569091	1			no_errors	ENST00000371900	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	115569091	G	T	115569091	3	4	45	1	0	0	0	0	1	0	0	0	14722	942	33	3	188	3	SLC6A14	23	115569091	Missense_Mutation	SNP	G	TCGA-JY-A93E-01A-11D-A37C-09	8104592	115569091	39701469	282	11120											
MAGEA12	4111	genome.wustl.edu	37	chrX	151900213	151900213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggaggcctgtcttgggCacgatctgattgtcgcccag	7	10	13	11	2	3	1	1	1	2	0	4	3	3	2	2	3	0	1	2	3	0	2			TCGA-JY-A93E-01A-11D-A37C-09	TCGA-JY-A93E-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b01013cd-8e6d-48c4-8e7d-04f225494136	4d76ceba-e50b-4887-9978-89db3736dbf5	g.chrX:151900213C>T	ENST00000357916.4	-	2	743	c.588G>A	c.(586-588)gtG>gtA	p.V196V	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Silent_p.V196V|MAGEA12_ENST00000393869.3_Silent_p.V196V	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	196	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCTTGGGCACGATCTGAT	0.582																																																	0													149	142	144					X																	151900213		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"cancer/testis antigen family 1, member 12"	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.588G>A	X.37:g.151900213C>T			Q9NSD3	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.V196	ENST00000357916.4	37	c.588	CCDS14710.1	X																																																																																			MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.582	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	-	0	29	0	C	NM_005367		151900213	-1	tier1	-	no_errors	ENST00000357916	ensembl	human	known	74_37	silent	70.30	30	71	SNP	0.042	T	T	151900213	C	T	151900213	2	4	45	1	0	0	0	0	0	0	0	1	9202	697	25	3		3	MAGEA12	23	151900213	Silent	SNP	C	TCGA-JY-A93E-01A-11D-A37C-09	36331122	151900213	3370347	283	11121											
DFFB	1677	genome.wustl.edu	37	chr1	3782553	3782553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgggctgaggacccgcCgtggtttgaaggtgcgtggg	5	7	19	10	4	0	2	0	2	0	0	0	4	0	3	3	5	1	2	3	5	1	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:3782553C>T	ENST00000378209.3	+	3	742	c.419C>T	c.(418-420)cCg>cTg	p.P140L	DFFB_ENST00000338895.3_Missense_Mutation_p.P140L	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	140					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GAGGACCCGCCGTGGTTTGAA	0.627																																																	0													8	10	10					1																	3782553		2108	4203	6311	SO:0001583	missense	0				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.419C>T	1.37:g.3782553C>T	ENSP00000367454:p.Pro140Leu		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.P140L	ENST00000378209.3	37	c.419	CCDS52.1	1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996985	0.35226	.	.	ENSG00000169598	ENST00000378209;ENST00000338895;ENST00000339350;ENST00000378206	T;T	0.31247	1.5;1.5	5.12	3.04	0.35103	Apoptosis, DNA fragmentation factor 40kDa (1);	0.529452	0.21769	N	0.069391	T	0.25791	0.0628	L	0.46157	1.445	0.09310	N	0.999998	D;D;B;P	0.53151	0.958;0.958;0.19;0.91	B;B;B;B	0.41299	0.278;0.353;0.013;0.147	T	0.10086	-1.0645	10	0.37606	T	0.19	-16.5034	11.2813	0.49197	0.3687:0.6312:0.0:0.0	.	164;76;140;140	B4DZS0;Q5SR21;O76075-2;O76075	.;.;.;DFFB_HUMAN	L	140;140;76;76	ENSP00000367454:P140L;ENSP00000339524:P140L	ENSP00000339524:P140L	P	+	2	0	DFFB	3772413	0.054000	0.20591	0.432000	0.26747	0.977000	0.68977	1.828000	0.39111	1.058000	0.40530	0.462000	0.41574	CCG	DFFB	-	pfam_Apoptosis_DFF40	ENSG00000169598		0.627	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	HGNC	protein_coding	OTTHUMT00000009821.2	-	0	133	0	C	NM_001282669		3782553	1	tier1	-	no_errors	ENST00000378209	ensembl	human	known	74_37	missense	35.38	84	46	SNP	0.014	T	T	3782553	C	T	3782553	3	4	46	1	0	0	0	0	1	0	0	0	4467	652	23	1	429	1	DFFB	1	3782553	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		3782553	245468068	1	11122											
PGD	5226	genome.wustl.edu	37	chr1	10468184	10468184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaagtgggaactggagaacCctgctgtgactgggcaagtt	12	8	14	7	0	0	2	0	1	0	1	0	4	0	3	1	3	3	3	1	3	5	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:10468184C>A	ENST00000270776.8	+	6	544	c.506C>A	c.(505-507)cCc>cAc	p.P169H	PGD_ENST00000538557.1_Missense_Mutation_p.P156H|PGD_ENST00000541529.1_Missense_Mutation_p.P147H	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	169					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	ACTGGAGAACCCTGCTGTGAC	0.507																																																	0													168	166	167					1																	10468184		2203	4300	6503	SO:0001583	missense	0			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.506C>A	1.37:g.10468184C>A	ENSP00000270776:p.Pro169His		A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox	p.P169H	ENST00000270776.8	37	c.506	CCDS113.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693924	0.88735	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.52754	0.69;0.66;0.65	5.06	5.06	0.68205	6-phosphogluconate dehydrogenase, NADP-binding (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	H	0.96048	3.76	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.74023	0.906;0.982	D	0.86515	0.1812	10	0.87932	D	0	-18.7386	18.8281	0.92127	0.0:1.0:0.0:0.0	.	147;169	F5H7U0;P52209	.;6PGD_HUMAN	H	147;115;169;156	ENSP00000442285:P147H;ENSP00000270776:P169H;ENSP00000437822:P156H	ENSP00000270776:P169H	P	+	2	0	PGD	10390771	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.559000	0.82265	2.514000	0.84764	0.462000	0.41574	CCC	PGD	-	pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox	ENSG00000142657		0.507	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGD	HGNC	protein_coding	OTTHUMT00000005398.1		0	26	0	C	NM_002631		10468184	1			no_errors	ENST00000270776	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	10468184	C	A	10468184	3	1	46	1	0	0	0	0	1	0	0	0	11826	623	22	3	528	3	PGD	1	10468184	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	6685631	10468184	238782437	2	11123											
VPS13D	55187	genome.wustl.edu	37	chr1	12401921	12401921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcactttgtggtttgccaCcctgaccaccacacccacca	8	9	7	17	0	0	1	0	1	0	0	0	1	0	1	6	1	2	2	6	1	0	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:12401921C>T	ENST00000358136.3	+	41	8841	c.8711C>T	c.(8710-8712)aCc>aTc	p.T2904I	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2879I	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGTTTGCCACCCTGACCACC	0.557																																																	0													91	89	90					1																	12401921		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8711C>T	1.37:g.12401921C>T	ENSP00000350854:p.Thr2904Ile			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.T2904I	ENST00000358136.3	37	c.8711	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.353267|5.353267	0.95830|0.95830	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.51071	.|0.72;0.72	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51534|0.51534	0.1680|0.1680	L|L	0.31371|0.31371	0.925|0.925	0.80722|0.80722	D|D	1|1	.|P;P	.|0.47034	.|0.889;0.822	.|P;P	.|0.55011	.|0.766;0.588	T|T	0.26985|0.26985	-1.0087|-1.0087	5|10	.|0.13108	.|T	.|0.6	.|.	19.9079|19.9079	0.97014|0.97014	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2879;2903	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	S|I	1726|2879;2904	.|ENSP00000348666:T2879I;ENSP00000350854:T2904I	.|ENSP00000348666:T2879I	P|T	+|+	1|2	0|0	VPS13D|VPS13D	12324508|12324508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.703000|2.703000	0.92315|0.92315	0.591000|0.591000	0.81541|0.81541	CCC|ACC	VPS13D	-	NULL	ENSG00000048707		0.557	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	56	0	C	NM_015378		12401921	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	12401921	C	T	12401921	3	4	46	1	0	0	0	0	1	0	0	0	17241	507	18	3	8869	3	VPS13D	1	12401921	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	1933737	12401921	236848700	3	11124											
RHD	6007	genome.wustl.edu	37	chr1	25611165	25611165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccttcaacctcttcatgCtggcgcttggtgtgcagtgg	4	13	13	11	1	3	0	2	0	1	0	3	0	3	0	2	4	3	3	2	4	1	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:25611165C>T	ENST00000328664.4	+	2	405	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	RHD_ENST00000357542.4_Silent_p.L84L|RHD_ENST00000454452.2_Silent_p.L84L|RHD_ENST00000423810.2_Silent_p.L84L|RHD_ENST00000417538.2_Silent_p.L84L|RHD_ENST00000568195.1_Silent_p.L84L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000342055.5_Silent_p.L84L	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	84						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCTTCATGCTGGCGCTTGG	0.582																																																	0													74	67	69					1																	25611165		2131	3717	5848	SO:0001819	synonymous_variant	0			AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"CD molecules", "Blood group antigens"	10009	protein-coding gene	gene with protein product		111680	"Rhesus blood group, D antigen", "Rh blood group, D antigen"	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.250C>T	1.37:g.25611165C>T			Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.L84	ENST00000328664.4	37	c.250	CCDS262.1	1																																																																																			RHD	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000187010		0.582	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHD	HGNC	protein_coding	OTTHUMT00000009660.5	-	0	35	0	C	NM_016124		25611165	1	tier1	-	no_errors	ENST00000328664	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.877	T	T	25611165	C	T	25611165	2	4	46	1	0	0	0	0	0	0	0	1	13372	796	28	3		3	RHD	1	25611165	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	13209244	25611165	223639456	4	11125											
ARID1A	8289	genome.wustl.edu	37	chr1	27097621	27097622	+	Frame_Shift_Ins	INS	-	-	A																															ttatacaggtcaacaagaacINSaaaaaatggcgggaacttgc																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:27097621_27097622insA	ENST00000324856.7	+	12	3581_3582	c.3210_3211insA	c.(3211-3213)aaafs	p.K1071fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.K688fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.K1071fs|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1071	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.K1072fs*21(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAACAAGAACAAAAAATGGCG	0.48			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	2	Deletion - Frameshift(2)	ovary(1)|endometrium(1)																																								SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3216dupA	1.37:g.27097627_27097627dupA	ENSP00000320485:p.Lys1071fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.W1072fs	ENST00000324856.7	37	c.3210_3211	CCDS285.1	1																																																																																			ARID1A	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000117713		0.48	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	54	0	-	NM_139135		27097622	1	tier1		no_errors	ENST00000324856	ensembl	human	known	74_37	frame_shift_ins	27.87	44	17	INS	1.000:1.000	A	A	27097622	-	A	27097621	7	5	46	1	0	1	1	0	0	0	0	0	913	477	17	0	3256	0	ARID1A	1	27097621	Frame_Shift_Ins	INS	-	TCGA-JY-A93F-01A-21D-A37C-09	1486456	27097621	222153000	5	11126											
ZC3H12A	80149	genome.wustl.edu	37	chr1	37947279	37947279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgtgggtggcaagcggGtggtgtgctatgacgacaga	8	7	19	7	4	0	2	0	1	0	1	0	4	0	2	0	4	2	2	0	4	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:37947279G>T	ENST00000373087.6	+	4	777	c.661G>T	c.(661-663)Gtg>Ttg	p.V221L		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCAAGCGGGTGGTGTGCTA	0.577																																																	0													280	244	256					1																	37947279		2203	4300	6503	SO:0001583	missense	0				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.661G>T	1.37:g.37947279G>T	ENSP00000362179:p.Val221Leu			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.V221L	ENST00000373087.6	37	c.661	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740454	0.89573	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.41758	0.99	5.8	5.8	0.92144	Ribonuclease Zc3h12a-like (1);	0.056779	0.64402	D	0.000001	T	0.52338	0.1728	L	0.46614	1.455	0.80722	D	1	P	0.43701	0.815	P	0.54706	0.759	T	0.43065	-0.9414	10	0.42905	T	0.14	-28.9726	14.8523	0.70306	0.0:0.0:0.8564:0.1436	.	221	Q5D1E8	ZC12A_HUMAN	L	221	ENSP00000362179:V221L	ENSP00000362174:V221L	V	+	1	0	ZC3H12A	37719866	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	6.593000	0.74100	2.735000	0.93741	0.655000	0.94253	GTG	ZC3H12A	-	pfam_RNase_Zc3h12	ENSG00000163874		0.577	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	-	0	50	0	G	NM_025079		37947279	1	tier1	-	no_errors	ENST00000373087	ensembl	human	known	74_37	missense	45.65	25	21	SNP	0.998	T	T	37947279	G	T	37947279	3	4	46	1	0	0	0	0	1	0	0	0	17609	1261	44	3	671	3	ZC3H12A	1	37947279	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	10849658	37947279	211303342	6	11127											
MTF1	4520	genome.wustl.edu	37	chr1	38280975	38280975	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggagtctctgcttgtcGgctttgctcacaggaggagg	7	11	15	8	1	2	1	1	1	1	0	4	4	2	4	0	5	2	3	0	5	1	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:38280975G>T	ENST00000373036.4	-	11	2235	c.2095C>A	c.(2095-2097)Cga>Aga	p.R699R		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	699					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cadmium ion (GO:0046686)|response to metal ion (GO:0010038)|response to oxidative stress (GO:0006979)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCTGCTTGTCGGCTTTGCTCA	0.562																																																	0													131	136	134					1																	38280975		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014454	CCDS30676.1	1p33	2008-02-05			ENSG00000188786	ENSG00000188786			7428	protein-coding gene	gene with protein product		600172				8065932	Standard	NM_005955		Approved		uc001cce.1	Q14872	OTTHUMG00000004439	ENST00000373036.4:c.2095C>A	1.37:g.38280975G>T			B2RAK6|Q96CB1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R699	ENST00000373036.4	37	c.2095	CCDS30676.1	1																																																																																			MTF1	-	NULL	ENSG00000188786		0.562	MTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF1	HGNC	protein_coding	OTTHUMT00000012984.2		0	28	0	G	NM_005955		38280975	-1			no_errors	ENST00000373036	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.982	T	T	38280975	G	T	38280975	2	4	46	1	0	0	0	0	0	0	0	1	9960	1124	39	2		2	MTF1	1	38280975	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	333696	38280975	210969646	7	11128											
MYSM1	114803	genome.wustl.edu	37	chr1	59131214	59131214	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacttataaccaggcaGgtaatctgagaatatggtaa	14	11	8	8	0	2	1	1	1	1	1	3	2	3	1	2	3	1	3	2	3	6	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:59131214G>T	ENST00000472487.1	-	17	2160	c.2121C>A	c.(2119-2121)acC>acA	p.T707T	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	707					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TAACCAGGCAGGTAATCTGAG	0.363																																																	0													126	119	121					1																	59131214		1827	4084	5911	SO:0001819	synonymous_variant	0			AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.2121C>A	1.37:g.59131214G>T			A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Silent	SNP	pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom	p.T707	ENST00000472487.1	37	c.2121	CCDS41343.1	1																																																																																			MYSM1	-	smart_JAB_MPN_dom	ENSG00000162601		0.363	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYSM1	HGNC	protein_coding	OTTHUMT00000026343.2	-	0	68	0	G	XM_055481		59131214	-1	tier1	-	no_errors	ENST00000472487	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	59131214	G	T	59131214	2	4	46	1	0	0	0	0	0	0	0	1	10139	987	35	3		3	MYSM1	1	59131214	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	20850239	59131214	190119407	8	11129											
C1orf87	127795	genome.wustl.edu	37	chr1	60506762	60506762	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggataaggactggtctccGgttggtacagagctgcagtg	9	10	15	7	1	1	1	0	0	1	1	2	3	1	3	1	5	3	4	1	5	3	4	rs74843231	byFrequency	TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:60506762G>T	ENST00000371201.3	-	4	491	c.384C>A	c.(382-384)acC>acA	p.T128T	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	128							calcium ion binding (GO:0005509)	p.T128T(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ACTGGTCTCCGGTTGGTACAG	0.507																																					NSCLC(75;811 1386 4923 13371 51772)												1	Substitution - coding silent(1)	stomach(1)											115	97	103					1																	60506762		2203	4300	6503	SO:0001819	synonymous_variant	0			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.384C>A	1.37:g.60506762G>T			Q6ZU07|Q8IVS0	Silent	SNP	NULL	p.T128	ENST00000371201.3	37	c.384	CCDS614.1	1																																																																																			C1orf87	-	NULL	ENSG00000162598		0.507	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1		0	32	0	G	NM_152377		60506762	-1			no_errors	ENST00000371201	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.527	T	T	60506762	G	T	60506762	2	4	46	1	0	0	0	0	0	0	0	1	2071	1103	39	2		2	C1orf87	1	60506762	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1375548	60506762	188743859	9	11130											
IFI44L	10964	genome.wustl.edu	37	chr1	79093944	79093944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagcaactggtgtgtcGtttatcgaaaacggatattt	11	14	11	5	3	0	2	0	2	0	0	2	4	0	3	0	2	3	2	0	2	5	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:79093944G>T	ENST00000370751.5	+	2	523	c.344G>T	c.(343-345)cGt>cTt	p.R115L	IFI44L_ENST00000476521.1_Intron|IFI44L_ENST00000342282.3_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	115					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTGGTGTGTCGTTTATCGAAA	0.308																																																	0													43	44	43					1																	79093944		2203	4296	6499	SO:0001583	missense	0			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"chromosome 1 open reading frame 29"	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.344G>T	1.37:g.79093944G>T	ENSP00000359787:p.Arg115Leu		Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R115L	ENST00000370751.5	37	c.344	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	G	3.584	-0.084933	0.07097	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.13901	3.13;2.55	3.59	-4.89	0.03103	.	3.159790	0.01371	N	0.012599	T	0.01592	0.0051	N	0.22421	0.69	0.09310	N	1	B	0.20052	0.041	B	0.17979	0.02	T	0.35871	-0.9771	10	0.11485	T	0.65	.	0.4702	0.00530	0.3041:0.1388:0.2844:0.2727	.	115	Q53G44	IF44L_HUMAN	L	115;92	ENSP00000359787:R115L;ENSP00000400784:R92L	ENSP00000359787:R115L	R	+	2	0	IFI44L	78866532	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.281000	0.08456	-1.101000	0.03027	-0.474000	0.04947	CGT	IFI44L	-	NULL	ENSG00000137959		0.308	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	HGNC	protein_coding	OTTHUMT00000026834.3		0	58	0	G	NM_006820		79093944	1			no_errors	ENST00000370751	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.000	T	T	79093944	G	T	79093944	3	4	46	1	0	0	0	0	1	0	0	0	7545	1145	40	2	346	2	IFI44L	1	79093944	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	18587182	79093944	170156677	10	11131											
MAGI3	260425	genome.wustl.edu	37	chr1	114184871	114184871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagcagagagtatccatgGcatcgtcaggcagctcccag	10	7	13	11	1	1	2	1	1	0	1	4	3	3	2	2	2	2	5	2	2	1	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:114184871G>A	ENST00000307546.9	+	10	1774	c.1699G>A	c.(1699-1701)Gca>Aca	p.A567T	MAGI3_ENST00000369617.4_Missense_Mutation_p.A592T|MAGI3_ENST00000369615.1_Missense_Mutation_p.A567T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A567T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	592					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTATCCATGGCATCGTCAGG	0.498																																																	0													115	116	116					1																	114184871		2203	4300	6503	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1699G>A	1.37:g.114184871G>A	ENSP00000304604:p.Ala567Thr		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.A567T	ENST00000307546.9	37	c.1699	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480083	0.44044	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.48	5.48	0.80851	.	0.105254	0.64402	D	0.000004	T	0.31071	0.0785	M	0.66378	2.025	0.44908	D	0.997926	B;B;B	0.25955	0.011;0.138;0.002	B;B;B	0.21151	0.023;0.033;0.006	T	0.19745	-1.0296	10	0.62326	D	0.03	-15.9135	15.3369	0.74263	0.0:0.0:0.8597:0.1403	.	567;567;592	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	592;567;567;567	ENSP00000358630:A592T;ENSP00000304604:A567T;ENSP00000358628:A567T;ENSP00000358624:A567T	ENSP00000304604:A567T	A	+	1	0	MAGI3	113986394	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.587000	0.60991	2.731000	0.93534	0.650000	0.86243	GCA	MAGI3	-	superfamily_PDZ	ENSG00000081026		0.498	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	-	0	39	0	G	NM_152900		114184871	1	tier1	-	no_errors	ENST00000369611	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	114184871	G	A	114184871	3	1	46	1	0	0	0	0	1	0	0	0	9230	1203	42	3	1737	3	MAGI3	1	114184871	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	35090927	114184871	135065750	11	11132											
WARS2	10352	genome.wustl.edu	37	chr1	119683180	119683180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccgtctttggttacctGgagagcgggagcagctgcgg	6	8	18	9	3	1	1	0	0	1	1	1	3	1	2	2	5	5	3	2	5	1	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:119683180G>T	ENST00000235521.4	-	1	114	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000369426.5_Missense_Mutation_p.Q30K|RP11-418J17.1_ENST00000457043.1_RNA|RP11-418J17.1_ENST00000425884.1_RNA|RP11-418J17.1_ENST00000413531.1_RNA|RP11-418J17.1_ENST00000418015.1_RNA|WARS2_ENST00000537870.1_5'Flank|WARS2_ENST00000497761.1_5'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	30					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTGGTTACCTGGAGAGCGGGA	0.597																																																	0													43	44	43					1																	119683180		2203	4300	6503	SO:0001583	missense	0			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.88C>A	1.37:g.119683180G>T	ENSP00000235521:p.Gln30Lys		B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.Q30K	ENST00000235521.4	37	c.88	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.952536	0.34471	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.39787	1.06;2.06	6.04	5.11	0.69529	.	0.335947	0.31772	N	0.007100	T	0.11623	0.0283	N	0.08118	0	0.80722	D	1	P;B;B;P	0.35192	0.489;0.349;0.019;0.454	B;B;B;B	0.39379	0.298;0.205;0.02;0.192	T	0.09729	-1.0661	10	0.09843	T	0.71	-19.3092	13.1357	0.59407	0.0:0.1603:0.8397:0.0	.	30;30;30;30	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	K	30	ENSP00000358434:Q30K;ENSP00000235521:Q30K	ENSP00000235521:Q30K	Q	-	1	0	WARS2	119484703	0.989000	0.36119	0.902000	0.35471	0.016000	0.09150	1.448000	0.35112	1.527000	0.49086	0.561000	0.74099	CAG	WARS2	-	NULL	ENSG00000116874		0.597	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	HGNC	protein_coding	OTTHUMT00000034362.1	-	0	25	0	G	NM_015836		119683180	-1	tier1	-	no_errors	ENST00000235521	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.962	T	T	119683180	G	T	119683180	3	4	46	1	0	0	0	0	1	0	0	0	17299	1357	47	3	1047	3	WARS2	1	119683180	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	5498309	119683180	129567441	12	11133											
CGN	57530	genome.wustl.edu	37	chr1	151509295	151509295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgaggaagaaggcccaGcgtgaggtggaggagcagca	11	3	19	8	1	0	3	0	2	0	1	0	6	0	6	2	6	3	2	2	6	2	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:151509295G>T	ENST00000271636.7	+	20	3529	c.3396G>T	c.(3394-3396)caG>caT	p.Q1132H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1126					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAAGGCCCAGCGTGAGGTGG	0.567																																																	0													141	143	142					1																	151509295		2203	4300	6503	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3396G>T	1.37:g.151509295G>T	ENSP00000271636:p.Gln1132His		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.Q1132H	ENST00000271636.7	37	c.3396	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633415	0.67015	.	.	ENSG00000143375	ENST00000271636	D	0.82711	-1.64	5.41	2.03	0.26663	Myosin tail (1);	0.554944	0.20226	N	0.096593	D	0.87208	0.6120	M	0.85462	2.755	0.28336	N	0.921562	D	0.76494	0.999	D	0.80764	0.994	T	0.80843	-0.1201	10	0.87932	D	0	-12.0343	11.1261	0.48320	0.246:0.0:0.754:0.0	.	1126	Q9P2M7	CING_HUMAN	H	1132	ENSP00000271636:Q1132H	ENSP00000271636:Q1132H	Q	+	3	2	CGN	149775919	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.335000	0.33839	0.659000	0.30945	0.655000	0.94253	CAG	CGN	-	pfam_Myosin_tail	ENSG00000143375		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	-	0	35	0	G	NM_020770		151509295	1	tier1	-	no_errors	ENST00000271636	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.999	T	T	151509295	G	T	151509295	3	4	46	1	0	0	0	0	1	0	0	0	3310	962	34	3	3470	3	CGN	1	151509295	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	31826115	151509295	97741326	13	11134											
TDRKH	11022	genome.wustl.edu	37	chr1	151748932	151748932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacactattctcatagtGctgggtcatctcattgacaa	11	12	6	12	0	3	1	3	1	2	0	5	1	3	1	1	1	1	1	1	1	3	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:151748932G>T	ENST00000368822.1	-	7	1660	c.1027C>A	c.(1027-1029)Cac>Aac	p.H343N	TDRKH_ENST00000458431.2_Missense_Mutation_p.H343N|TDRKH_ENST00000368827.6_Missense_Mutation_p.H343N|TDRKH_ENST00000440583.2_Missense_Mutation_p.H119N|TDRKH_ENST00000368824.3_Missense_Mutation_p.H343N|TDRKH_ENST00000368825.3_Missense_Mutation_p.H298N|TDRKH_ENST00000484421.1_5'Flank|TDRKH_ENST00000368823.1_Missense_Mutation_p.H339N			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	343					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTCTCATAGTGCTGGGTCATC	0.478																																																	0													180	172	174					1																	151748932		1923	4140	6063	SO:0001583	missense	0			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1027C>A	1.37:g.151748932G>T	ENSP00000357812:p.His343Asn		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.H343N	ENST00000368822.1	37	c.1027	CCDS41394.1	1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242113	0.39598	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97;2.97	5.38	2.18	0.27775	Maternal tudor protein (1);	0.358812	0.35805	N	0.002965	T	0.06690	0.0171	L	0.53729	1.69	0.37287	D	0.908092	P;P;P	0.40302	0.662;0.712;0.523	B;P;B	0.45998	0.396;0.5;0.303	T	0.23332	-1.0191	10	0.30078	T	0.28	-6.4865	9.5353	0.39218	0.288:0.0:0.712:0.0	.	298;339;343	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	N	343;298;343;339;343;343;119	ENSP00000357819:H343N;ENSP00000357817:H298N;ENSP00000357815:H343N;ENSP00000357813:H339N;ENSP00000357812:H343N;ENSP00000395718:H343N;ENSP00000416645:H119N	ENSP00000357812:H343N	H	-	1	0	TDRKH	150015556	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.026000	0.49689	0.771000	0.33359	0.655000	0.94253	CAC	TDRKH	-	pfam_Tudor	ENSG00000182134		0.478	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2	-	0	39	0	G	NM_006862		151748932	-1	tier1	-	no_errors	ENST00000368822	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.984	T	T	151748932	G	T	151748932	3	4	46	1	0	0	0	0	1	0	0	0	15784	1319	46	3	686	3	TDRKH	1	151748932	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	239637	151748932	97501689	14	11135											
ASH1L	55870	genome.wustl.edu	37	chr1	155450046	155450046	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgaaggaagggatttcaAtttctggctgtaaaattggg	11	14	13	3	0	2	1	1	1	1	0	2	3	2	3	0	4	0	3	0	4	5	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:155450046A>T	ENST00000368346.3	-	3	3254	c.2615T>A	c.(2614-2616)aTt>aAt	p.I872N	ASH1L_ENST00000392403.3_Missense_Mutation_p.I872N			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	872					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGGATTTCAATTTCTGGCTG	0.428																																																	0													125	133	130					1																	155450046		2203	4300	6503	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2615T>A	1.37:g.155450046A>T	ENSP00000357330:p.Ile872Asn		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.I872N	ENST00000368346.3	37	c.2615		1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.319442	0.41096	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.90385	-2.66;-2.66	5.31	5.31	0.75309	.	0.067409	0.64402	D	0.000014	T	0.78181	0.4243	N	0.08118	0	0.80722	D	1	P;P	0.50528	0.894;0.936	B;P	0.44990	0.276;0.466	D	0.84128	0.0410	10	0.52906	T	0.07	.	15.0957	0.72232	1.0:0.0:0.0:0.0	.	872;872	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	N	872	ENSP00000357330:I872N;ENSP00000376204:I872N	ENSP00000357330:I872N	I	-	2	0	ASH1L	153716670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.502000	0.81614	2.234000	0.73211	0.528000	0.53228	ATT	ASH1L	-	NULL	ENSG00000116539		0.428	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1		0	29	0	A	NM_018489		155450046	-1			no_errors	ENST00000368346	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	155450046	A	T	155450046	3	4	46	1	0	0	0	0	1	0	0	0	1042	101	4	5	6383	5	ASH1L	1	155450046	Missense_Mutation	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	3701114	155450046	93800575	15	11136											
FMO1	2326	genome.wustl.edu	37	chr1	171247904	171247904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccagtactttcatagccGgcaatataagcatccagata	14	9	8	10	1	1	1	1	0	0	1	2	1	2	1	3	2	3	3	3	2	6	6	rs377169079		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:171247904G>T	ENST00000354841.4	+	4	652	c.521G>T	c.(520-522)cGg>cTg	p.R174L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.R174L|FMO1_ENST00000402921.2_Missense_Mutation_p.R111L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	174					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTTCATAGCCGGCAATATAAG	0.398																																																	0													79	84	82					1																	171247904		2203	4300	6503	SO:0001583	missense	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.521G>T	1.37:g.171247904G>T	ENSP00000346901:p.Arg174Leu		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.R174L	ENST00000354841.4	37	c.521	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403756	0.83230	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.66	5.66	0.87406	.	0.067011	0.64402	D	0.000018	T	0.65026	0.2652	M	0.67517	2.055	0.43317	D	0.995336	D;P;D	0.89917	1.0;0.801;1.0	D;P;D	0.79784	0.993;0.482;0.986	T	0.63786	-0.6558	10	0.35671	T	0.21	1.1855	11.9371	0.52880	0.0804:0.0:0.9196:0.0	.	111;174;174	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	L	174;174;111;174	ENSP00000356724:R174L;ENSP00000406982:R174L;ENSP00000385543:R111L;ENSP00000346901:R174L	ENSP00000346901:R174L	R	+	2	0	FMO1	169514528	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.158000	0.58150	2.665000	0.90641	0.563000	0.77884	CGG	FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000010932		0.398	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1		0	43	0	G	NM_002021		171247904	1			no_errors	ENST00000354841	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.963	T	T	171247904	G	T	171247904	3	4	46	1	0	0	0	0	1	0	0	0	5976	1116	39	2	535	2	FMO1	1	171247904	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	15797858	171247904	78002717	16	11137											
RC3H1	149041	genome.wustl.edu	37	chr1	173931047	173931047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagcagggtacactcgaCggccatcatagtgagatggg	11	6	15	9	3	1	1	1	1	0	1	2	4	1	2	1	4	2	2	1	4	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:173931047C>T	ENST00000367696.2	-	12	2369	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	RC3H1_ENST00000258349.4_Missense_Mutation_p.R673H|RC3H1_ENST00000367694.2_Missense_Mutation_p.R673H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	673	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R673H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GTACACTCGACGGCCATCATA	0.483																																																	1	Substitution - Missense(1)	pancreas(1)											264	255	258					1																	173931047		2203	4300	6503	SO:0001583	missense	0			AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	29434	protein-coding gene	gene with protein product	"KIAA2025 protein"	609424	"ring finger and CCCH-type zinc finger domains 1"			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.2018G>A	1.37:g.173931047C>T	ENSP00000356669:p.Arg673His		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R673H	ENST00000367696.2	37	c.2018	CCDS30940.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439224	0.83885	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.55052	0.54;0.54;0.54	5.92	5.01	0.66863	.	0.202250	0.53938	D	0.000053	T	0.55417	0.1919	L	0.55481	1.735	0.44611	D	0.99758	P;D;P;P	0.76494	0.539;0.999;0.669;0.539	B;P;B;B	0.60117	0.065;0.869;0.138;0.065	T	0.60796	-0.7192	10	0.56958	D	0.05	-12.9212	15.1054	0.72319	0.0:0.9323:0.0:0.0677	.	673;673;673;673	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	H	673	ENSP00000356669:R673H;ENSP00000258349:R673H;ENSP00000356667:R673H	ENSP00000258349:R673H	R	-	2	0	RC3H1	172197670	1.000000	0.71417	0.931000	0.37212	0.989000	0.77384	5.989000	0.70587	1.506000	0.48736	0.650000	0.86243	CGT	RC3H1	-	NULL	ENSG00000135870		0.483	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H1	HGNC	protein_coding	OTTHUMT00000090733.2		0	49	0	C	NM_172071		173931047	-1			no_errors	ENST00000258349	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.991	T	T	173931047	C	T	173931047	3	4	46	1	0	0	0	0	1	0	0	0	13211	536	19	1	1419	1	RC3H1	1	173931047	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	2683143	173931047	75319574	17	11138											
OR2T11	127077	genome.wustl.edu	37	chr1	248790145	248790145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagaggaagatctggatGccacaggccacaaaggaaat	16	5	13	7	0	1	2	0	0	1	2	1	5	1	5	2	5	1	1	2	5	4	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr1:248790145G>T	ENST00000330803.2	-	1	346	c.285C>A	c.(283-285)ggC>ggA	p.G95G		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATCTGGATGCCACAGGCCA	0.493																																																	0													71	67	69					1																	248790145		2053	4231	6284	SO:0001819	synonymous_variant	0			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.285C>A	1.37:g.248790145G>T			Q6IEY6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G95	ENST00000330803.2	37	c.285	CCDS31122.1	1																																																																																			OR2T11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000183130		0.493	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T11	HGNC	protein_coding	OTTHUMT00000097134.1		0	52	0	G	NM_001001964		248790145	-1			no_errors	ENST00000330803	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.828	T	T	248790145	G	T	248790145	2	4	46	1	0	0	0	0	0	0	0	1	11057	1306	46	3		3	OR2T11	1	248790145	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	74859098	248790145	460476	18	11139											
C2orf39	92749	genome.wustl.edu	37	chr2	26672862	26672862	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccttcttccttctccccAggggttcctcatagagagca	7	12	8	14	0	3	1	1	0	2	1	6	2	5	1	5	2	2	2	5	2	1	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:26672862A>T	ENST00000288710.2	+	12	1583		c.e12-1			NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1						axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											CCTTCTCCCCAGGGGTTCCTC	0.587																																																	0													61	57	58					2																	26672862		2203	4300	6503	SO:0001630	splice_region_variant	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)"	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1510-1A>T	2.37:g.26672862A>T			A8K1N8|Q53R91|Q53TA3|Q8NDI5	Splice_Site	SNP	-	e12-2	ENST00000288710.2	37	c.1510-2	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769037	0.69992	.	.	ENSG00000157856	ENST00000288710;ENST00000439066	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0687	0.59048	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC164	26526366	1.000000	0.71417	0.996000	0.52242	0.869000	0.49853	7.261000	0.78400	2.073000	0.62155	0.397000	0.26171	.	DRC1	-	-	ENSG00000157856		0.587	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRC1	HGNC	protein_coding	OTTHUMT00000246862.1	-	0	46	0	A	NM_145038	Intron	26672862	1	tier1	-	no_errors	ENST00000288710	ensembl	human	known	74_37	splice_site	42.31	30	22	SNP	1.000	T	T	26672862	A	T	26672862	5	4	46	1	0	0	0	0	0	0	1	0	2171	202	7	5	1554	5	C2orf39	2	26672862	Splice_Site	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09		26672862	216526511	19	11140											
LRPPRC	10128	genome.wustl.edu	37	chr2	44190729	44190729	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccacacttgtactcacctGcaaaatggctcgtgctgagt	11	10	8	12	1	1	1	1	1	0	0	2	1	1	1	2	1	4	4	2	1	4	2	rs567388360		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:44190729G>A	ENST00000260665.7	-	12	1543	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	LRPPRC_ENST00000409659.1_Nonsense_Mutation_p.Q496*|LRPPRC_ENST00000409946.1_Nonsense_Mutation_p.Q496*	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	496					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTACTCACCTGCAAAATGGCT	0.363													G|||	1	0.000199681	0	0	5008	,	,		17654	0		0	False		,,,				2504	0.001																0													99	96	97					2																	44190729		2203	4300	6503	SO:0001587	stop_gained	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1486C>T	2.37:g.44190729G>A	ENSP00000260665:p.Gln496*		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Nonsense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.Q496*	ENST00000260665.7	37	c.1486	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505538	0.64410	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659	.	.	.	4.75	1.84	0.25277	.	0.183612	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-6.7346	9.5074	0.39056	0.0:0.2394:0.486:0.2746	.	.	.	.	X	396;496;496;496	.	ENSP00000260665:Q496X	Q	-	1	0	LRPPRC	44044233	1.000000	0.71417	0.964000	0.40570	0.100000	0.18952	2.113000	0.41902	0.182000	0.20032	-0.257000	0.10917	CAG	LRPPRC	-	NULL	ENSG00000138095		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1		0	42	0	G	NM_133259		44190729	-1			no_errors	ENST00000260665	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.998	A	A	44190729	G	A	44190729	4	1	46	1	0	0	0	0	0	1	0	0	9000	1328	46	3	2806	3	LRPPRC	2	44190729	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	17517867	44190729	199008644	20	11141											
LHCGR	3973	genome.wustl.edu	37	chr2	48914886	48914886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagctgtaccttgacagtGcaatgtggacaacttcaagg	12	9	12	8	0	1	2	1	1	0	1	1	4	1	3	1	2	4	3	1	2	4	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:48914886G>T	ENST00000294954.7	-	11	2071	c.2050C>A	c.(2050-2052)Cac>Aac	p.H684N	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.H622N|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.H657N	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	684					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCTTGACAGTGCAATGTGGAC	0.383																																																	0													123	117	119					2																	48914886		2203	4300	6503	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.2050C>A	2.37:g.48914886G>T	ENSP00000294954:p.His684Asn		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.H684N	ENST00000294954.7	37	c.2050	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	1.027	-0.683159	0.03353	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.75821	-0.97;-0.81;-0.87	5.4	2.31	0.28768	.	0.880679	0.10017	N	0.726475	T	0.50343	0.1610	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32268	-0.9913	9	.	.	.	.	2.6265	0.04931	0.0894:0.2191:0.3736:0.3179	.	684	P22888	LSHR_HUMAN	N	622;684;657	ENSP00000344301:H622N;ENSP00000294954:H684N;ENSP00000386033:H657N	.	H	-	1	0	LHCGR	48768390	0.428000	0.25522	0.204000	0.23530	0.266000	0.26442	1.116000	0.31221	0.788000	0.33755	0.585000	0.79938	CAC	LHCGR	-	prints_LSH_rcpt	ENSG00000138039		0.383	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4		0	47	0	G	NM_000233.3		48914886	-1			no_errors	ENST00000294954	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.053	T	T	48914886	G	T	48914886	3	4	46	1	0	0	0	0	1	0	0	0	8791	1319	46	3	53	3	LHCGR	2	48914886	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	4724157	48914886	194284487	21	11142											
CCDC88A	55704	genome.wustl.edu	37	chr2	55529121	55529121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcttttctccttttacccGttgaaatatcatcaggaacc	10	16	4	11	1	4	1	2	1	2	0	5	2	4	2	3	1	2	1	3	1	4	7	rs200839306		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:55529121G>A	ENST00000436346.1	-	27	5400	c.4559C>T	c.(4558-4560)aCg>aTg	p.T1520M	CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1519M|CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1519M|CCDC88A_ENST00000422883.2_Intron|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1492M	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1520					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCTTTTACCCGTTGAAATATC	0.463																																																	0													115	111	113					2																	55529121		2203	4300	6503	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4559C>T	2.37:g.55529121G>A	ENSP00000410608:p.Thr1520Met		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.T1520M	ENST00000436346.1	37	c.4559		2	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268356	0.23136	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	T;T;T;T;T;T	0.49432	2.43;2.57;2.65;0.78;2.4;1.36	5.38	5.38	0.77491	.	0.465514	0.17962	U	0.156160	T	0.47801	0.1465	N	0.24115	0.695	0.80722	D	1	B;D;D;P;D;D	0.61080	0.102;0.989;0.986;0.939;0.988;0.989	B;P;P;P;P;P	0.51582	0.03;0.674;0.454;0.466;0.666;0.674	T	0.38866	-0.9641	10	0.33940	T	0.23	2.0E-4	19.5473	0.95305	0.0:0.0:1.0:0.0	.	1519;1492;1437;1520;1519;1491	B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.;.;.;GRDN_HUMAN;.;.	M	1519;1492;1520;537;1519;695	ENSP00000338728:T1519M;ENSP00000263630:T1492M;ENSP00000410608:T1520M;ENSP00000390012:T537M;ENSP00000404431:T1519M;ENSP00000405080:T695M	ENSP00000263630:T1492M	T	-	2	0	CCDC88A	55382625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.684000	0.68197	2.701000	0.92244	0.460000	0.39030	ACG	CCDC88A	-	NULL	ENSG00000115355		0.463	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0	44	0	G	NM_017571		55529121	-1	tier1	rs200839306	no_errors	ENST00000436346	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	55529121	G	A	55529121	3	1	46	1	0	0	0	0	1	0	0	0	2870	1145	40	1	1080	1	CCDC88A	2	55529121	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	6614235	55529121	187670252	22	11143											
VAX2	25806	genome.wustl.edu	37	chr2	71160034	71160034	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggagcagggccggctGctctctgtgcccagggcccc	3	7	15	16	1	1	0	0	0	1	0	2	1	1	1	4	4	4	4	4	4	0	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:71160034G>T	ENST00000234392.2	+	3	605	c.573G>T	c.(571-573)ctG>ctT	p.L191L	ATP6V1B1_ENST00000234396.4_5'Flank|snoU13_ENST00000459218.1_RNA	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	191					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						AGGGCCGGCTGCTCTCTGTGC	0.662																																																	0													33	38	37					2																	71160034		2203	4300	6503	SO:0001819	synonymous_variant	0			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.573G>T	2.37:g.71160034G>T			Q53Y33	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.L191	ENST00000234392.2	37	c.573	CCDS1911.1	2																																																																																			VAX2	-	NULL	ENSG00000116035		0.662	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAX2	HGNC	protein_coding	OTTHUMT00000251923.1	-	0	70	0	G			71160034	1	tier1	-	no_errors	ENST00000234392	ensembl	human	known	74_37	silent	36.62	45	26	SNP	1.000	T	T	71160034	G	T	71160034	2	4	46	1	0	0	0	0	0	0	0	1	17184	1306	46	3		3	VAX2	2	71160034	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	15630913	71160034	172039339	23	11144											
CAPG	822	genome.wustl.edu	37	chr2	85625215	85625215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagatatcagcagttcaaGggcaaatgggctggagtcag	13	8	13	7	0	4	1	4	0	0	1	4	2	4	2	0	3	1	4	0	3	3	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:85625215G>T	ENST00000409921.1	-	8	841	c.775C>A	c.(775-777)Ctt>Att	p.L259I	CAPG_ENST00000409670.1_Missense_Mutation_p.L274I|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000263867.4_Missense_Mutation_p.L274I|CAPG_ENST00000409724.1_Missense_Mutation_p.L274I			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGCAGTTCAAGGGCAAATGGG	0.552																																																	0													223	193	203					2																	85625215		2203	4300	6503	SO:0001583	missense	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.775C>A	2.37:g.85625215G>T	ENSP00000387063:p.Leu259Ile		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.L274I	ENST00000409921.1	37	c.820	CCDS58715.1	2	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670148	0.29693	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.52	-0.105	0.13601	Gelsolin domain (1);	1.346850	0.04569	N	0.392847	T	0.39118	0.1066	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.12837	0.008;0.003;0.002	T	0.35525	-0.9785	10	0.72032	D	0.01	.	4.9307	0.13916	0.3444:0.3884:0.2672:0.0	.	253;259;274	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	I	253;274;29;259;274;274	ENSP00000263867:L274I;ENSP00000397381:L29I;ENSP00000387063:L259I;ENSP00000386315:L274I;ENSP00000386965:L274I	ENSP00000263867:L274I	L	-	1	0	CAPG	85478726	0.000000	0.05858	0.097000	0.21041	0.687000	0.40016	-0.017000	0.12590	-0.024000	0.13941	0.555000	0.69702	CTT	CAPG	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000042493		0.552	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	HGNC	protein_coding	OTTHUMT00000329383.1	-	0	52	0	G	NM_001747		85625215	-1	tier1	-	no_errors	ENST00000263867	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.001	T	T	85625215	G	T	85625215	3	4	46	1	0	0	0	0	1	0	0	0	2628	1000	35	3	238	3	CAPG	2	85625215	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	14465181	85625215	157574158	24	11145											
KDM3A	55818	genome.wustl.edu	37	chr2	86705840	86705840	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttcaaagccagcctcAaaggaagacctaaaacaggt	15	8	7	11	0	3	1	2	0	1	1	3	2	3	2	3	2	3	0	3	2	5	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:86705840A>G	ENST00000409556.1	+	16	2663	c.2298A>G	c.(2296-2298)tcA>tcG	p.S766S	KDM3A_ENST00000542128.1_Silent_p.S714S|KDM3A_ENST00000312912.5_Silent_p.S766S|KDM3A_ENST00000409064.1_Silent_p.S766S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	766					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						AGCCAGCCTCAAAGGAAGACC	0.363																																					NSCLC(96;1150 1523 6936 46253 49736)												0													98	88	92					2																	86705840		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2298A>G	2.37:g.86705840A>G			D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S766	ENST00000409556.1	37	c.2298	CCDS1990.1	2																																																																																			KDM3A	-	NULL	ENSG00000115548		0.363	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2		0	53	0	A	NM_018433		86705840	1			no_errors	ENST00000312912	ensembl	human	known	74_37	silent	5.00	57	3	SNP	1.000	G	G	86705840	A	G	86705840	2	3	46	1	0	0	0	0	0	0	0	1	8153	117	5	4		4	KDM3A	2	86705840	Silent	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	1080625	86705840	156493533	25	11146											
EIF5B	9669	genome.wustl.edu	37	chr2	99977973	99977973	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaggacagaaaaaaaaTcagaaaaacaagccaggtcc	24	2	8	7	0	1	3	1	0	0	3	2	4	2	4	2	2	2	0	2	2	9	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:99977973T>A	ENST00000289371.6	+	4	811	c.609T>A	c.(607-609)aaT>aaA	p.N203K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	203					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAAAAAAAATCAGAAAAACA	0.358																																					Colon(162;2388 2567 2705 3444)												0													42	43	43					2																	99977973		1819	4076	5895	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.609T>A	2.37:g.99977973T>A	ENSP00000289371:p.Asn203Lys		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.N203K	ENST00000289371.6	37	c.609	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810241	0.32053	.	.	ENSG00000158417	ENST00000289371	T	0.41065	1.01	5.92	2.33	0.28932	.	.	.	.	.	T	0.29652	0.0740	L	0.41492	1.28	0.47698	D	0.999498	B	0.13594	0.008	B	0.10450	0.005	T	0.05582	-1.0876	8	.	.	.	-19.6218	7.5803	0.27961	0.0:0.3857:0.0:0.6143	.	203	O60841	IF2P_HUMAN	K	203	ENSP00000289371:N203K	.	N	+	3	2	EIF5B	99344405	0.995000	0.38212	0.999000	0.59377	0.972000	0.66771	0.228000	0.17814	0.503000	0.28060	0.533000	0.62120	AAT	EIF5B	-	NULL	ENSG00000158417		0.358	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2		0	38	0	T	NM_015904		99977973	1			no_errors	ENST00000289371	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	99977973	T	A	99977973	3	1	46	1	0	0	0	0	1	0	0	0	5060	1432	50	5	623	5	EIF5B	2	99977973	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	13272133	99977973	143221400	26	11147											
GCC2	9648	genome.wustl.edu	37	chr2	109087535	109087535	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagataccatgttaaaaGaattagaaggaaagataaat	23	8	8	2	0	0	4	0	0	0	4	0	6	0	5	1	1	1	1	1	1	10	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:109087535G>T	ENST00000309863.6	+	6	2464	c.1750G>T	c.(1750-1752)Gaa>Taa	p.E584*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	584					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CATGTTAAAAGAATTAGAAGG	0.289																																																	0													25	28	27					2																	109087535		1990	4172	6162	SO:0001587	stop_gained	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"GRIP and coiled-coil domain-containing 2"			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.1750G>T	2.37:g.109087535G>T	ENSP00000307939:p.Glu584*		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.E584*	ENST00000309863.6	37	c.1750	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.301424	0.97453	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	.	.	.	5.62	5.62	0.85841	.	0.249011	0.39020	N	0.001486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	20.0205	0.97499	0.0:0.0:1.0:0.0	.	.	.	.	X	584;547;329	.	ENSP00000307939:E584X	E	+	1	0	GCC2	108453967	1.000000	0.71417	0.995000	0.50966	0.928000	0.56348	6.157000	0.71846	2.801000	0.96364	0.650000	0.86243	GAA	GCC2	-	NULL	ENSG00000135968		0.289	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3		0	35	0	G	NM_014635		109087535	1			no_errors	ENST00000309863	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	109087535	G	T	109087535	4	4	46	1	0	0	0	0	0	1	0	0	6311	943	33	3	1772	3	GCC2	2	109087535	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	9109562	109087535	134111838	27	11148											
ZC3H6	376940	genome.wustl.edu	37	chr2	113074098	113074098	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcaggaatttattaatCagcacacagtggaacacaaa	17	9	7	8	0	2	1	2	1	0	0	2	3	2	3	0	2	2	1	0	2	5	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:113074098C>T	ENST00000409871.1	+	6	1200	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	ZC3H6_ENST00000343936.4_Nonsense_Mutation_p.Q267*	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	267							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ATTTATTAATCAGCACACAGT	0.313																																																	0													56	54	54					2																	113074098		1814	4058	5872	SO:0001587	stop_gained	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.799C>T	2.37:g.113074098C>T	ENSP00000386764:p.Gln267*		A9JR71|Q6ZW96	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.Q267*	ENST00000409871.1	37	c.799	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.618313	0.98888	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	.	.	.	5.52	5.52	0.82312	.	0.116921	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.3939	19.7971	0.96490	0.0:1.0:0.0:0.0	.	.	.	.	X	267;267;244	.	ENSP00000340298:Q267X	Q	+	1	0	ZC3H6	112790569	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.632000	0.67819	2.757000	0.94681	0.585000	0.79938	CAG	ZC3H6	-	NULL	ENSG00000188177		0.313	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	-	0	42	0	C	NM_198581		113074098	1	tier1	-	no_errors	ENST00000343936	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	113074098	C	T	113074098	4	4	46	1	0	0	0	0	0	1	0	0	17619	827	29	3	821	3	ZC3H6	2	113074098	Nonsense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	3986563	113074098	130125275	28	11149											
PKP4	8502	genome.wustl.edu	37	chr2	159488428	159488428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagctccaaggatcgcaGacggcgttgtatcgcacagg	9	7	15	10	4	0	1	0	0	0	1	3	3	1	3	1	4	1	5	1	4	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:159488428G>A	ENST00000389759.3	+	8	1429	c.1317G>A	c.(1315-1317)caG>caA	p.Q439Q	PKP4_ENST00000389757.3_Silent_p.Q439Q	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	439					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AAGGATCGCAGACGGCGTTGT	0.498										HNSCC(62;0.18)																																							0													113	103	106					2																	159488428		2203	4300	6503	SO:0001819	synonymous_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1317G>A	2.37:g.159488428G>A			Q86W91	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q439	ENST00000389759.3	37	c.1317	CCDS33305.1	2																																																																																			PKP4	-	NULL	ENSG00000144283		0.498	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0	35	0	G			159488428	1	tier1	-	no_errors	ENST00000389759	ensembl	human	known	74_37	silent	32.35	46	22	SNP	1.000	A	A	159488428	G	A	159488428	2	1	46	1	0	0	0	0	0	0	0	1	12026	933	33	3		3	PKP4	2	159488428	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	46414330	159488428	83710945	29	11150											
TTN	7273	genome.wustl.edu	37	chr2	179504469	179504469	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgttactggggcagcgatGggggttggttcaggttccac	6	11	16	8	1	1	0	1	0	0	0	2	1	2	0	1	6	2	5	1	6	1	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:179504469G>T	ENST00000591111.1	-	173	36134	c.35910C>A	c.(35908-35910)ccC>ccA	p.P11970P	TTN_ENST00000342175.6_Silent_p.P4738P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.P4671P|TTN_ENST00000460472.2_Silent_p.P4546P|TTN_ENST00000589042.1_Silent_p.P13611P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P11043P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11970	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCAGCGATGGGGGTTGGTT	0.403																																																	0													114	111	112					2																	179504469		1854	4097	5951	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35910C>A	2.37:g.179504469G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P11043	ENST00000591111.1	37	c.33129		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	51	0	G	NM_133378		179504469	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.015	T	T	179504469	G	T	179504469	2	4	46	1	0	0	0	0	0	0	0	1	16784	1335	47	3		3	TTN	2	179504469	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	20016041	179504469	63694904	30	11151											
SSFA2	6744	genome.wustl.edu	37	chr2	182783599	182783599	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttatcatcatatgactGaggaggagaggtaaaagttc	13	12	12	4	0	2	3	2	2	0	1	3	5	2	4	0	4	0	3	0	4	4	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:182783599G>T	ENST00000431877.2	+	13	3162	c.2983G>T	c.(2983-2985)Gag>Tag	p.E995*	SSFA2_ENST00000409001.1_Nonsense_Mutation_p.E995*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.E504*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.E842*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.E995*|SSFA2_ENST00000467172.2_3'UTR	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	995						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCATATGACTGAGGAGGAGAG	0.358																																																	0													63	63	63					2																	182783599		2203	4300	6503	SO:0001587	stop_gained	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2983G>T	2.37:g.182783599G>T	ENSP00000388731:p.Glu995*		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	NULL	p.E995*	ENST00000431877.2	37	c.2983	CCDS46467.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	9.962537|9.962537	0.99305|0.99305	.|.	.|.	ENSG00000138434|ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136|ENST00000457421	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.152664|.	0.64402|.	D|.	0.000018|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	-10.4679|-10.4679	20.2936|20.2936	0.98544|0.98544	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	995;995;995;842;504|33	.|.	ENSP00000314669:E995X|.	E|X	+|+	1|2	0|2	SSFA2|SSFA2	182491844|182491844	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.988000|0.988000	0.76386|0.76386	7.820000|7.820000	0.86633|0.86633	2.801000|2.801000	0.96364|0.96364	0.655000|0.655000	0.94253|0.94253	GAG|TGA	SSFA2	-	NULL	ENSG00000138434		0.358	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2		0	21	0	G	NM_006751		182783599	1			no_errors	ENST00000431877	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	0.999	T	T	182783599	G	T	182783599	4	4	46	1	0	0	0	0	0	1	0	0	15230	1291	45	3	3033	3	SSFA2	2	182783599	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	3279130	182783599	60415774	31	11152											
HIBCH	26275	genome.wustl.edu	37	chr2	191175496	191175496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaccaaatggtgcagtatgGtattagtccttttgaatgca	11	15	9	6	0	0	1	0	1	0	0	1	1	1	1	2	2	3	4	2	2	6	6	rs542648871		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:191175496G>T	ENST00000359678.5	-	2	356	c.62C>A	c.(61-63)aCc>aAc	p.T21N	HIBCH_ENST00000392332.3_Missense_Mutation_p.T21N	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	21					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			GTGCAGTATGGTATTAGTCCT	0.333																																																	0													169	145	153					2																	191175496		2203	4300	6503	SO:0001583	missense	0			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"3-hydroxyisobutyryl-Coenzyme A hydrolase"			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.62C>A	2.37:g.191175496G>T	ENSP00000352706:p.Thr21Asn		D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.T21N	ENST00000359678.5	37	c.62	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	G	4.264	0.048018	0.08243	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.58060	0.37;0.36;0.36	4.17	1.58	0.23477	.	1.887440	0.02038	N	0.049043	T	0.48572	0.1507	L	0.61218	1.895	0.49582	D	0.9998	B;B	0.19935	0.028;0.04	B;B	0.22386	0.039;0.026	T	0.35549	-0.9784	10	0.18276	T	0.48	-13.2588	3.5661	0.07900	0.7017:0.0:0.1058:0.1925	.	21;21	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	N	21;21;75	ENSP00000376144:T21N;ENSP00000352706:T21N;ENSP00000387247:T75N	ENSP00000352706:T21N	T	-	2	0	HIBCH	190883741	0.466000	0.25823	0.565000	0.28409	0.994000	0.84299	0.800000	0.27042	0.380000	0.24823	-0.300000	0.09419	ACC	HIBCH	-	NULL	ENSG00000198130		0.333	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1		0	78	0	G			191175496	-1			no_errors	ENST00000359678	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.676	T	T	191175496	G	T	191175496	3	4	46	1	0	0	0	0	1	0	0	0	7127	1261	44	3	1150	3	HIBCH	2	191175496	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	8391897	191175496	52023877	32	11153											
MPP4	58538	genome.wustl.edu	37	chr2	202552060	202552060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagctcttggatctcaGgggaagtaggggtttcacgt	7	12	14	8	1	4	0	3	0	3	0	6	2	4	2	0	5	1	3	0	5	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:202552060G>T	ENST00000409474.3	-	5	521	c.314C>A	c.(313-315)cCt>cAt	p.P105H	MPP4_ENST00000359962.5_Missense_Mutation_p.P105H|MPP4_ENST00000396886.3_Missense_Mutation_p.P105H|MPP4_ENST00000447335.2_Missense_Mutation_p.P105H|MPP4_ENST00000428900.2_Missense_Mutation_p.P105H|MPP4_ENST00000409143.1_Intron|MPP4_ENST00000315506.7_Missense_Mutation_p.P105H	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	105	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						TTGGATCTCAGGGGAAGTAGG	0.408																																																	0													71	69	70					2																	202552060		1833	4086	5919	SO:0001583	missense	0			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.314C>A	2.37:g.202552060G>T	ENSP00000387278:p.Pro105His		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P105H	ENST00000409474.3	37	c.314	CCDS46491.1	2	.	.	.	.	.	.	.	.	.	.	G	17.17	3.322301	0.60634	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000428900;ENST00000447335	T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48	5.97	2.0	0.26442	L27, C-terminal (1);L27 (2);	0.430705	0.22190	N	0.063384	T	0.14227	0.0344	M	0.76328	2.33	0.24118	N	0.995817	B;P;P;P;P;P;D;P;P	0.57571	0.153;0.537;0.808;0.771;0.808;0.654;0.98;0.808;0.508	B;P;P;B;P;P;P;P;P	0.56700	0.195;0.54;0.549;0.413;0.549;0.605;0.804;0.549;0.669	T	0.07481	-1.0770	10	0.59425	D	0.04	.	4.0493	0.09788	0.1214:0.1163:0.5469:0.2154	.	105;105;105;105;105;105;118;105;105	B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;F8WC25;F8WBH8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;.;MPP4_HUMAN;.	H	105	ENSP00000387278:P105H;ENSP00000319363:P105H;ENSP00000353047:P105H;ENSP00000416781:P105H;ENSP00000406160:P105H	ENSP00000319363:P105H	P	-	2	0	MPP4	202260305	0.993000	0.37304	0.971000	0.41717	0.789000	0.44602	1.623000	0.37008	0.425000	0.26087	0.655000	0.94253	CCT	MPP4	-	pfam_L27_C,smart_L27,pfscan_L27	ENSG00000082126		0.408	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPP4	HGNC	protein_coding	OTTHUMT00000335748.2	-	0	53	0	G			202552060	-1	tier1	-	no_errors	ENST00000359962	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.518	T	T	202552060	G	T	202552060	3	4	46	1	0	0	0	0	1	0	0	0	9774	1000	35	3	1671	3	MPP4	2	202552060	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	11376564	202552060	40647313	33	11154											
RNPEPL1	57140	genome.wustl.edu	37	chr2	241515026	241515026	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgtggactgccgggcAggtgaggctgacccccaacc	8	4	15	14	2	0	3	0	2	0	1	0	4	0	4	4	4	3	2	4	4	1	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:241515026A>G	ENST00000270357.4	+	8	1409	c.816A>G	c.(814-816)gcA>gcG	p.A272A	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	272					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ACTGCCGGGCAGGTGAGGCTG	0.652																																																	0													57	53	54					2																	241515026		2203	4300	6503	SO:0001630	splice_region_variant	0					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.817+1A>G	2.37:g.241515026A>G			Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.A272	ENST00000270357.4	37	c.816		2																																																																																			RNPEPL1	-	NULL	ENSG00000142327		0.652	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	-	0	41	0	A	NM_018226	Silent	241515026	1	tier1	-	no_errors	ENST00000270357	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	G	G	241515026	A	G	241515026	5	3	46	1	0	0	0	0	0	0	1	0	13555	202	7	4	838	4	RNPEPL1	2	241515026	Splice_Site	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	38962966	241515026	1684347	34	11155											
HDLBP	3069	genome.wustl.edu	37	chr2	242170211	242170211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcgaatggctttgccgCgggcaccaatgatgcgggcg	6	10	15	10	5	0	1	0	1	0	0	0	2	0	1	2	3	3	2	2	3	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr2:242170211C>T	ENST00000391975.1	-	25	3664	c.3437G>A	c.(3436-3438)cGc>cAc	p.R1146H	HDLBP_ENST00000310931.4_Missense_Mutation_p.R1146H|HDLBP_ENST00000427183.2_Missense_Mutation_p.R1113H|HDLBP_ENST00000391976.2_Missense_Mutation_p.R1146H	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1146	KH 14. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGCTTTGCCGCGGGCACCAAT	0.587																																																	0													118	92	101					2																	242170211		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3437G>A	2.37:g.242170211C>T	ENSP00000375836:p.Arg1146His		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R1146H	ENST00000391975.1	37	c.3437	CCDS2547.1	2	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945546	0.53079	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000442730	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.53	1.76	0.24704	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.048348	0.85682	N	0.000000	T	0.52075	0.1712	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.951;0.993	T	0.48758	-0.9007	10	0.87932	D	0	-7.4633	7.0424	0.25027	0.1223:0.6818:0.0:0.1959	.	1113;1146	E7EM71;Q00341	.;VIGLN_HUMAN	H	1146;1146;1146;1113;10	ENSP00000375836:R1146H;ENSP00000375837:R1146H;ENSP00000312042:R1146H;ENSP00000399139:R1113H;ENSP00000411211:R10H	ENSP00000312042:R1146H	R	-	2	0	HDLBP	241818884	1.000000	0.71417	0.000000	0.03702	0.003000	0.03518	7.613000	0.82986	0.055000	0.16094	-0.156000	0.13503	CGC	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.587	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0	59	0	C	NM_203346		242170211	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.951	T	T	242170211	C	T	242170211	3	4	46	1	0	0	0	0	1	0	0	0	7052	768	27	1	385	1	HDLBP	2	242170211	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	655185	242170211	1029162	35	11156											
TGFBR2	7048	genome.wustl.edu	37	chr3	30732976	30732976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacccagaggcccgtctcaCagcccagtgtgtggcagaac	9	5	12	15	2	1	2	1	0	1	2	2	3	1	2	3	2	2	1	3	2	1	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:30732976C>T	ENST00000295754.5	+	7	1971	c.1589C>T	c.(1588-1590)aCa>aTa	p.T530I	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T555I	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	530	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GCCCGTCTCACAGCCCAGTGT	0.592																																																	0													73	70	71					3																	30732976		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1589C>T	3.37:g.30732976C>T	ENSP00000295754:p.Thr530Ile		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.T555I	ENST00000295754.5	37	c.1664	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.236087	0.95240	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.94828	-3.53;-3.53	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	M	0.93283	3.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98548	1.0635	10	0.87932	D	0	.	20.2857	0.98533	0.0:1.0:0.0:0.0	.	530;555	P37173;D2JYI1	TGFR2_HUMAN;.	I	530;555;360	ENSP00000295754:T530I;ENSP00000351905:T555I	ENSP00000295754:T530I	T	+	2	0	TGFBR2	30707980	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.818000	0.86416	2.803000	0.96430	0.650000	0.86243	ACA	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163513		0.592	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	50	0	C			30732976	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	43.14	29	22	SNP	1.000	T	T	30732976	C	T	30732976	3	4	46	1	0	0	0	0	1	0	0	0	15869	478	17	3	1694	3	TGFBR2	3	30732976	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		30732976	167289454	36	11157											
ITGA9	3680	genome.wustl.edu	37	chr3	37821442	37821442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcacactgtaactttaGtgctcttgctaaagaagaaa	16	10	7	8	0	1	2	0	0	1	2	1	2	1	2	0	0	5	4	0	0	7	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:37821442G>T	ENST00000264741.5	+	25	2973	c.2717G>T	c.(2716-2718)aGt>aTt	p.S906I	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	906					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGTAACTTTAGTGCTCTTGCT	0.373																																																	0													121	121	121					3																	37821442		2203	4300	6503	SO:0001583	missense	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2717G>T	3.37:g.37821442G>T	ENSP00000264741:p.Ser906Ile		Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S906I	ENST00000264741.5	37	c.2717	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744103	0.89663	.	.	ENSG00000144668	ENST00000264741	T	0.50277	0.75	5.91	5.91	0.95273	.	0.129143	0.64402	D	0.000001	T	0.50582	0.1624	L	0.51422	1.61	0.58432	D	0.999999	P	0.34909	0.475	B	0.38921	0.285	T	0.51132	-0.8744	10	0.66056	D	0.02	.	19.07	0.93130	0.0:0.0:1.0:0.0	.	906	Q13797	ITA9_HUMAN	I	906	ENSP00000264741:S906I	ENSP00000264741:S906I	S	+	2	0	ITGA9	37796446	1.000000	0.71417	0.907000	0.35723	0.996000	0.88848	6.592000	0.74095	2.793000	0.96121	0.655000	0.94253	AGT	ITGA9	-	NULL	ENSG00000144668		0.373	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1		0	25	0	G	NM_002207		37821442	1			no_errors	ENST00000264741	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	37821442	G	T	37821442	3	4	46	1	0	0	0	0	1	0	0	0	7910	1029	36	3	2815	3	ITGA9	3	37821442	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	7088466	37821442	160200988	37	11158											
C3orf75	54859	genome.wustl.edu	37	chr3	47545863	47545863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttgagcctggaagaCgacgtccactgcagacttga	9	10	10	12	2	0	4	0	2	0	2	2	6	2	5	3	1	2	1	3	1	1	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:47545863C>T	ENST00000296149.4	-	4	450	c.280G>A	c.(280-282)Gtc>Atc	p.V94I	ELP6_ENST00000446787.1_Missense_Mutation_p.V21I|ELP6_ENST00000439305.1_Missense_Mutation_p.V21I	NM_001031703.2	NP_001026873.2	Q0PNE2	ELP6_HUMAN	elongator acetyltransferase complex subunit 6	94					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Elongator holoenzyme complex (GO:0033588)											GCCTGGAAGACGACGTCCACT	0.592																																																	0													62	68	66					3																	47545863		2036	4186	6222	SO:0001583	missense	0			AK000218	CCDS43082.1	3p21.31	2012-08-14	2012-08-08	2012-08-08	ENSG00000163832	ENSG00000163832		"Elongator acetyltransferase complex subunits"	25976	protein-coding gene	gene with protein product		615020	"transmembrane protein 103", "chromosome 3 open reading frame 75"	TMEM103, C3orf75		22854966	Standard	XM_005265241		Approved	FLJ20211	uc003crk.3	Q0PNE2	OTTHUMG00000133521	ENST00000296149.4:c.280G>A	3.37:g.47545863C>T	ENSP00000296149:p.Val94Ile		Q9BW57|Q9NXJ3	Missense_Mutation	SNP	pfam_UPF0405	p.V94I	ENST00000296149.4	37	c.280	CCDS43082.1	3	.	.	.	.	.	.	.	.	.	.	C	6.462	0.453351	0.12283	.	.	ENSG00000163832	ENST00000296149;ENST00000450051;ENST00000446787;ENST00000439305;ENST00000412761;ENST00000444760;ENST00000425291;ENST00000449409;ENST00000414236	.	.	.	6.06	0.929	0.19449	.	0.537578	0.21414	N	0.074938	T	0.10078	0.0247	N	0.08118	0	0.24433	N	0.994568	B;B;B	0.22800	0.001;0.075;0.018	B;B;B	0.15484	0.002;0.006;0.013	T	0.15896	-1.0421	9	0.15952	T	0.53	-0.0025	0.4412	0.00487	0.3275:0.199:0.2848:0.1887	.	70;94;94	B4DP60;C9JAS1;Q0PNE2	.;.;CC075_HUMAN	I	94;70;21;21;21;21;21;21;21	.	ENSP00000296149:V94I	V	-	1	0	C3orf75	47520867	0.993000	0.37304	0.985000	0.45067	0.032000	0.12392	0.212000	0.17497	0.159000	0.19401	-0.256000	0.11100	GTC	ELP6	-	pfam_UPF0405	ENSG00000163832		0.592	ELP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP6	HGNC	protein_coding	OTTHUMT00000257493.1	-	0	37	0	C	NM_017713		47545863	-1	tier1	-	no_errors	ENST00000296149	ensembl	human	known	74_37	missense	36.73	31	18	SNP	0.985	T	T	47545863	C	T	47545863	3	4	46	1	0	0	0	0	1	0	0	0	2252	536	19	1	536	1	C3orf75	3	47545863	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	9724421	47545863	150476567	38	11159											
CACNA2D3	55799	genome.wustl.edu	37	chr3	55108159	55108159	+	Frame_Shift_Del	DEL	G	G	-																															aggagaatgcaagggagtgtGggggtgcgccgagtctccaa																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:55108159delG	ENST00000474759.1	+	38	3250	c.3202delG	c.(3202-3204)gggfs	p.G1069fs	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Frame_Shift_Del_p.G975fs|CACNA2D3_ENST00000415676.2_Frame_Shift_Del_p.G1069fs|CACNA2D3_ENST00000288197.5_Frame_Shift_Del_p.G1069fs	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1069						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	AAGGGAGTGTGGGGGTGCGCC	0.542																																																	0													136	135	135					3																	55108159		2062	4172	6234	SO:0001589	frameshift_variant	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3202delG	3.37:g.55108159delG	ENSP00000419101:p.Gly1069fs		B2RPL6|Q9NY16|Q9NY18	Frame_Shift_Del	DEL	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G1069fs	ENST00000474759.1	37	c.3202	CCDS54598.1	3																																																																																			CACNA2D3	-	NULL	ENSG00000157445		0.542	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1		0	32	0	G			55108159	1	tier1		no_errors	ENST00000288197	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	55108159	G	-	55108159	7	5	46	1	0	1	0	1	0	0	0	0	2557	1348	47	0	3352	0	CACNA2D3	3	55108159	Frame_Shift_Del	DEL	G	TCGA-JY-A93F-01A-21D-A37C-09	7562296	55108159	142914271	39	11160											
NFKBIZ	64332	genome.wustl.edu	37	chr3	101574724	101574724	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaagtgcctaattcaaaTgggagcagcggtggaagcga	13	8	13	7	2	1	0	1	0	0	0	1	3	1	2	1	3	4	1	1	3	4	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:101574724T>A	ENST00000326172.5	+	9	1917	c.1802T>A	c.(1801-1803)aTg>aAg	p.M601K	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.M501K|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.M479K	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	601	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CTAATTCAAATGGGAGCAGCG	0.423																																																	0													75	73	74					3																	101574724		2203	4300	6503	SO:0001583	missense	0			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1802T>A	3.37:g.101574724T>A	ENSP00000325663:p.Met601Lys		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M601K	ENST00000326172.5	37	c.1802	CCDS2946.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.44|19.44	3.827906|3.827906	0.71143|0.71143	.|.	.|.	ENSG00000144802|ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172|ENST00000477601	T;T;T;T|.	0.62788|.	-0.0;-0.0;0.09;0.09|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Ankyrin repeat-containing domain (4);|.	0.088337|.	0.85682|.	D|.	0.000000|.	T|T	0.28830|0.28830	0.0715|0.0715	N|N	0.01250|0.01250	-0.93|-0.93	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.994;0.999|.	D;D|.	0.87578|.	0.981;0.998|.	T|T	0.37103|0.37103	-0.9720|-0.9720	10|5	0.02654|.	T|.	1|.	-10.6099|-10.6099	16.3604|16.3604	0.83263|0.83263	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	479;601|.	Q9BYH8-3;Q9BYH8|.	.;IKBZ_HUMAN|.	K|R	501;501;479;601|50	ENSP00000419800:M501K;ENSP00000377618:M501K;ENSP00000325593:M479K;ENSP00000325663:M601K|.	ENSP00000325593:M479K|.	M|W	+|+	2|1	0|0	NFKBIZ|NFKBIZ	103057414|103057414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.667000|6.667000	0.74451|0.74451	2.260000|2.260000	0.74910|0.74910	0.528000|0.528000	0.53228|0.53228	ATG|TGG	NFKBIZ	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144802		0.423	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1	-	0	60	0	T	NM_031419		101574724	1	tier1	-	no_errors	ENST00000326172	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	101574724	T	A	101574724	3	1	46	1	0	0	0	0	1	0	0	0	10422	1464	51	5	1836	5	NFKBIZ	3	101574724	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	46466565	101574724	96447706	40	11161											
C3orf17	25871	genome.wustl.edu	37	chr3	112729516	112729516	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgtgtttcagctggtTgcagaaagccctcacatcaa	10	12	9	10	0	3	1	3	0	0	1	3	1	3	1	1	1	4	5	1	1	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:112729516T>C	ENST00000314400.5	-	7	1140	c.949A>G	c.(949-951)Aac>Gac	p.N317D	C3orf17_ENST00000472762.1_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.N247D|C3orf17_ENST00000393857.2_Missense_Mutation_p.N181D	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	317					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTCAGCTGGTTGCAGAAAGCC	0.383																																																	0													93	89	90					3																	112729516		2203	4300	6503	SO:0001583	missense	0			AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.949A>G	3.37:g.112729516T>C	ENSP00000320251:p.Asn317Asp		D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation	SNP	NULL	p.N317D	ENST00000314400.5	37	c.949	CCDS33824.1	3	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514149	0.44763	.	.	ENSG00000163608	ENST00000314400;ENST00000383675;ENST00000393857	T;T;T	0.30981	1.51;1.51;1.51	5.87	4.72	0.59763	.	0.526878	0.22331	N	0.061476	T	0.19644	0.0472	N	0.22421	0.69	0.30218	N	0.79707	B;B;B;B	0.25904	0.058;0.063;0.137;0.137	B;B;B;B	0.25140	0.025;0.025;0.058;0.058	T	0.13072	-1.0523	10	0.31617	T	0.26	-3.6836	8.5462	0.33424	0.0:0.0864:0.0:0.9136	.	206;114;247;317	E7EN80;E7EQH6;Q6NW34-2;Q6NW34	.;.;.;CC017_HUMAN	D	317;247;181	ENSP00000320251:N317D;ENSP00000373173:N247D;ENSP00000377438:N181D	ENSP00000320251:N317D	N	-	1	0	C3orf17	114212206	0.985000	0.35326	1.000000	0.80357	0.726000	0.41606	1.496000	0.35638	1.063000	0.40649	0.533000	0.62120	AAC	C3orf17	-	NULL	ENSG00000163608		0.383	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf17	HGNC	protein_coding	OTTHUMT00000354405.3		0	33	0	T	NM_015412		112729516	-1			no_errors	ENST00000314400	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.996	C	C	112729516	T	C	112729516	3	2	46	1	0	0	0	0	1	0	0	0	2217	1812	63	4	766	4	C3orf17	3	112729516	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	11154792	112729516	85292914	41	11162											
KIAA1407	57577	genome.wustl.edu	37	chr3	113684161	113684161	+	Frame_Shift_Del	DEL	T	T	-																															actctttcctctttcataaaTtttacaaacttcttccatgt																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:113684161delT	ENST00000295878.3	-	17	2798	c.2652delA	c.(2650-2652)aaafs	p.K884fs		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	884										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTTCATAAATTTTACAAACT	0.398																																																	0													101	106	105					3																	113684161		2203	4300	6503	SO:0001589	frameshift_variant	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2652delA	3.37:g.113684161delT	ENSP00000295878:p.Lys884fs		B4DYL1|Q9P2E0	Frame_Shift_Del	DEL	NULL	p.K884fs	ENST00000295878.3	37	c.2652	CCDS2977.1	3																																																																																			KIAA1407	-	NULL	ENSG00000163617		0.398	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2		0	25	0	T	NM_020817		113684161	-1	tier1		no_errors	ENST00000295878	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.000	-	-	113684161	T	-	113684161	7	5	46	1	0	1	0	1	0	0	0	0	8256	1490	52	0	162	0	KIAA1407	3	113684161	Frame_Shift_Del	DEL	T	TCGA-JY-A93F-01A-21D-A37C-09	954645	113684161	84338269	42	11163											
STXBP5L	9515	genome.wustl.edu	37	chr3	121126164	121126164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtggattaatgcaaccgCcatatgaagtttggagggat	11	11	14	5	1	0	1	0	1	0	0	0	4	0	4	2	4	2	2	2	4	4	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:121126164C>T	ENST00000273666.6	+	24	3005	c.2734C>T	c.(2734-2736)Cca>Tca	p.P912S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.P888S|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P886S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P912S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P888S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	912					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATGCAACCGCCATATGAAGT	0.398																																																	0													71	68	69					3																	121126164		1835	4088	5923	SO:0001583	missense	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2734C>T	3.37:g.121126164C>T	ENSP00000273666:p.Pro912Ser		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.P912S	ENST00000273666.6	37	c.2734	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288667	0.23478	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	5.1	5.1	0.69264	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.05869	-1.0859	10	0.33141	T	0.24	-12.4296	18.7084	0.91646	0.0:1.0:0.0:0.0	.	888;912	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	912;888;888;886;912;855	ENSP00000273666:P912S;ENSP00000420019:P888S;ENSP00000419627:P888S;ENSP00000420287:P886S;ENSP00000420666:P912S;ENSP00000420167:P855S	ENSP00000273666:P912S	P	+	1	0	STXBP5L	122608854	1.000000	0.71417	0.635000	0.29338	0.944000	0.59088	5.560000	0.67332	2.660000	0.90430	0.650000	0.86243	CCA	STXBP5L	-	pfam_Lgl_C_dom	ENSG00000145087		0.398	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0	21	0	C			121126164	1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.998	T	T	121126164	C	T	121126164	3	4	46	1	0	0	0	0	1	0	0	0	15404	739	26	3	2824	3	STXBP5L	3	121126164	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	7442003	121126164	76896266	43	11164											
CLCN2	1181	genome.wustl.edu	37	chr3	184069853	184069853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggagcaggatcaattttgCagtcactgaagttgacaggt	12	10	13	6	0	2	2	2	2	0	0	2	4	2	4	0	3	2	3	0	3	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr3:184069853C>T	ENST00000265593.4	-	22	2534	c.2363G>A	c.(2362-2364)tGc>tAc	p.C788Y	CLCN2_ENST00000457512.1_Missense_Mutation_p.C788Y|CLCN2_ENST00000434054.2_Missense_Mutation_p.C744Y|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.C771Y|CLCN2_ENST00000423355.2_3'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	788					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ATCAATTTTGCAGTCACTGAA	0.552																																																	0													160	145	150					3																	184069853		2203	4300	6503	SO:0001583	missense	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2363G>A	3.37:g.184069853C>T	ENSP00000265593:p.Cys788Tyr		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.C788Y	ENST00000265593.4	37	c.2363	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	24.5	4.539231	0.85917	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97464	0.9170	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.996	D;D;D;P	0.68353	0.935;0.935;0.957;0.828	D	0.97960	1.0337	10	0.87932	D	0	-24.0596	18.3639	0.90384	0.0:1.0:0.0:0.0	.	744;788;771;788	E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;CLCN2_HUMAN	Y	788;771;744;788	ENSP00000265593:C788Y;ENSP00000345056:C771Y;ENSP00000400425:C744Y;ENSP00000391928:C788Y	ENSP00000265593:C788Y	C	-	2	0	CLCN2	185552547	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.714000	0.47202	2.640000	0.89533	0.462000	0.41574	TGC	CLCN2	-	NULL	ENSG00000114859		0.552	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0	27	0	C			184069853	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	184069853	C	T	184069853	3	4	46	1	0	0	0	0	1	0	0	0	3470	710	25	3	345	3	CLCN2	3	184069853	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	62943689	184069853	13952577	44	11165											
HGFAC	3083	genome.wustl.edu	37	chr4	3443800	3443800	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcctcctcctcctcctGctgctgctgctgctgccacg	1	12	7	21	1	0	0	0	0	0	0	5	0	5	0	7	0	6	5	7	0	0	1	rs372137428		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:3443800G>C	ENST00000382774.3	+	1	187	c.72G>C	c.(70-72)ctG>ctC	p.L24L	HGFAC_ENST00000511533.1_Silent_p.L24L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	24					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTGCTGCTGCTGC	0.716													G|||	1	0.000199681	8e-04	0	5008	,	,		13355	0		0	False		,,,				2504	0																0								G		5,3433		0,5,1714	13	16	15		72	0.1	1	4		15	0,7164		0,0,3582	no	coding-synonymous	HGFAC	NM_001528.2		0,5,5296	CC,CG,GG		0.0,0.1454,0.0472		24/656	3443800	5,10597	1719	3582	5301	SO:0001819	synonymous_variant	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.72G>C	4.37:g.3443800G>C			Q14726|Q2M1W7|Q53X47	Silent	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L24	ENST00000382774.3	37	c.72	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.716	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	-	0	37	0	G			3443800	1	tier1	-	no_errors	ENST00000382774	ensembl	human	known	74_37	silent	10.71	50	6	SNP	0.998	C	C	3443800	G	C	3443800	2	2	46	1	0	0	0	0	0	0	0	1	7113	1306	46	5		5	HGFAC	4	3443800	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		3443800	187710476	45	11166											
HTRA3	94031	genome.wustl.edu	37	chr4	8295892	8295892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcagaccgcatcacaCggttcctcacagagttccaa	10	8	6	17	2	3	2	3	0	0	2	6	2	6	2	5	1	0	3	5	1	1	2	rs377511028		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:8295892C>T	ENST00000307358.2	+	6	1219	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	HTRA3_ENST00000382512.3_Missense_Mutation_p.R339W	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	339	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CCGCATCACACGGTTCCTCAC	0.587																																																	0								C	TRP/ARG	0,4406		0,0,2203	118	82	94		1015	3.3	1	4		94	1,8597	1.2+/-3.3	0,1,4298	no	missense	HTRA3	NM_053044.3	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	339/454	8295892	1,13003	2203	4299	6502	SO:0001583	missense	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1015C>T	4.37:g.8295892C>T	ENSP00000303766:p.Arg339Trp		Q7Z7A2	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.R339W	ENST00000307358.2	37	c.1015	CCDS3400.1	4	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066484	0.36470	0.0	1.16E-4	ENSG00000170801	ENST00000307358;ENST00000382512	T;T	0.15718	2.4;2.4	3.33	3.33	0.38152	Peptidase cysteine/serine, trypsin-like (1);	0.347493	0.26895	U	0.021944	T	0.20129	0.0484	N	0.24115	0.695	0.26786	N	0.96951	D;D	0.76494	0.995;0.999	P;P	0.56916	0.462;0.809	T	0.02378	-1.1168	10	0.87932	D	0	-8.5824	10.1306	0.42676	0.2003:0.7997:0.0:0.0	.	339;339	P83110;P83110-2	HTRA3_HUMAN;.	W	339	ENSP00000303766:R339W;ENSP00000371952:R339W	ENSP00000303766:R339W	R	+	1	2	HTRA3	8346792	0.090000	0.21635	0.964000	0.40570	0.055000	0.15305	2.643000	0.46604	1.410000	0.46936	0.313000	0.20887	CGG	HTRA3	-	superfamily_Trypsin-like_Pept_dom	ENSG00000170801		0.587	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1		0	38	0	C	NM_053044		8295892	1			no_errors	ENST00000307358	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.360	T	T	8295892	C	T	8295892	3	4	46	1	0	0	0	0	1	0	0	0	7482	527	19	1	1037	1	HTRA3	4	8295892	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	4852092	8295892	182858384	46	11167											
GABRB1	2560	genome.wustl.edu	37	chr4	47408862	47408862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaaattacatcttctttggGaaaggccctcagaaaaaggg	14	10	10	7	0	3	1	1	0	2	1	3	2	3	2	1	3	1	1	1	3	6	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:47408862G>T	ENST00000295454.3	+	8	1291	c.999G>T	c.(997-999)ggG>ggT	p.G333G	GABRB1_ENST00000538619.1_Silent_p.G263G	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	333					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTCTTTGGGAAAGGCCCTC	0.398																																																	0													146	142	144					4																	47408862		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.999G>T	4.37:g.47408862G>T			B2R6U7|D6REL3|Q16166|Q8TBK3	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.G333	ENST00000295454.3	37	c.999	CCDS3474.1	4																																																																																			GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000163288		0.398	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	36	0	G			47408862	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	silent	7.69	47	4	SNP	0.750	T	T	47408862	G	T	47408862	2	4	46	1	0	0	0	0	0	0	0	1	6190	1161	41	3		3	GABRB1	4	47408862	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	39112970	47408862	143745414	47	11168											
LRRC66	339977	genome.wustl.edu	37	chr4	52861635	52861635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctgacattagttcaCggttaccggcatgtggatgt	7	12	13	9	3	1	1	1	1	0	0	1	2	1	2	1	3	2	5	1	3	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:52861635C>T	ENST00000343457.3	-	4	1559	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	518						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CATTAGTTCACGGTTACCGGC	0.527																																																	0													103	110	108					4																	52861635		2111	4239	6350	SO:0001583	missense	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1553G>A	4.37:g.52861635C>T	ENSP00000341944:p.Arg518His			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R518H	ENST00000343457.3	37	c.1553	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	C	3.603	-0.081241	0.07141	.	.	ENSG00000188993	ENST00000343457	D	0.81739	-1.53	4.06	0.192	0.15134	.	2.683060	0.01400	N	0.013577	T	0.58032	0.2094	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50709	-0.8796	10	0.35671	T	0.21	0.0563	4.0882	0.09957	0.0:0.2015:0.191:0.6075	.	518	Q68CR7	LRC66_HUMAN	H	518	ENSP00000341944:R518H	ENSP00000341944:R518H	R	-	2	0	LRRC66	52556392	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.078000	0.14761	-0.026000	0.13895	-0.312000	0.09012	CGT	LRRC66	-	NULL	ENSG00000188993		0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1		0	39	0	C	NM_001024611		52861635	-1			no_errors	ENST00000343457	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.000	T	T	52861635	C	T	52861635	3	4	46	1	0	0	0	0	1	0	0	0	9053	536	19	1	1093	1	LRRC66	4	52861635	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	5452773	52861635	138292641	48	11169											
TMEM150C	441027	genome.wustl.edu	37	chr4	83406788	83406788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaactccacggcaaaggtgCcaaaataagacaggaagcac	17	3	11	10	1	0	1	0	0	0	1	1	3	1	3	2	4	3	2	2	4	6	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:83406788C>T	ENST00000515780.2	-	8	830	c.626G>A	c.(625-627)gGc>gAc	p.G209D	TMEM150C_ENST00000449862.2_Missense_Mutation_p.G209D			B9EJG8	T150C_HUMAN	transmembrane protein 150C	209						integral component of membrane (GO:0016021)				ovary(1)	1						GGCAAAGGTGCCAAAATAAGA	0.512																																																	0													44	43	43					4																	83406788		1958	4155	6113	SO:0001583	missense	0			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.626G>A	4.37:g.83406788C>T	ENSP00000420919:p.Gly209Asp		B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.G209D	ENST00000515780.2	37	c.626	CCDS47087.1	4	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184489	0.78677	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.47177	0.85;0.85	5.41	5.41	0.78517	.	.	.	.	.	T	0.69504	0.3118	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.67688	-0.5606	9	0.36615	T	0.2	-6.1462	19.1891	0.93656	0.0:1.0:0.0:0.0	.	209	B9EJG8	T150C_HUMAN	D	209	ENSP00000403438:G209D;ENSP00000420919:G209D	ENSP00000403438:G209D	G	-	2	0	TMEM150C	83625812	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.135000	0.64777	2.515000	0.84797	0.561000	0.74099	GGC	TMEM150C	-	pfam_Frag1/DRAM/Sfk1	ENSG00000249242		0.512	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM150C	HGNC	protein_coding	OTTHUMT00000363685.2	-	0	40	0	C	NM_001080506		83406788	-1	tier1	-	no_errors	ENST00000449862	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	83406788	C	T	83406788	3	4	46	1	0	0	0	0	1	0	0	0	16116	739	26	3	127	3	TMEM150C	4	83406788	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	30545153	83406788	107747488	49	11170											
ELOVL6	79071	genome.wustl.edu	37	chr4	110972735	110972735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggagactcggaaacctGccgcccgcaaggcatagtaa	11	5	12	13	4	0	1	0	0	0	1	2	3	1	2	4	3	2	3	4	3	4	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:110972735G>T	ENST00000394607.3	-	5	720	c.557C>A	c.(556-558)gCa>gAa	p.A186E	ELOVL6_ENST00000302274.3_Missense_Mutation_p.A186E			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	186					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TCGGAAACCTGCCGCCCGCAA	0.532																																																	0													70	62	65					4																	110972735		2203	4300	6503	SO:0001583	missense	0			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.557C>A	4.37:g.110972735G>T	ENSP00000378105:p.Ala186Glu		Q4W5L0|Q8NCD1	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.A186E	ENST00000394607.3	37	c.557	CCDS3690.1	4	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855372	0.71719	.	.	ENSG00000170522	ENST00000394607;ENST00000302274	T;T	0.23348	1.91;1.91	5.97	3.25	0.37280	.	0.139283	0.64402	D	0.000004	T	0.51568	0.1682	M	0.88105	2.93	0.54753	D	0.999983	D	0.58620	0.983	D	0.68483	0.958	T	0.50717	-0.8795	10	0.30854	T	0.27	-17.2151	10.6179	0.45462	0.2126:0.0:0.7874:0.0	.	186	Q9H5J4	ELOV6_HUMAN	E	186	ENSP00000378105:A186E;ENSP00000304736:A186E	ENSP00000304736:A186E	A	-	2	0	ELOVL6	111192184	1.000000	0.71417	0.005000	0.12908	0.762000	0.43233	9.775000	0.98995	0.382000	0.24878	0.655000	0.94253	GCA	ELOVL6	-	pfam_GNS1_SUR4	ENSG00000170522		0.532	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELOVL6	HGNC	protein_coding	OTTHUMT00000255748.1	-	0	50	0	G	NM_024090		110972735	-1	tier1	-	no_errors	ENST00000394607	ensembl	human	known	74_37	missense	38.46	32	20	SNP	0.956	T	T	110972735	G	T	110972735	3	4	46	1	0	0	0	0	1	0	0	0	5094	1319	46	3	244	3	ELOVL6	4	110972735	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	27565947	110972735	80181541	50	11171											
KIAA1109	84162	genome.wustl.edu	37	chr4	123147861	123147861	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcactgattatctgtaGctggcatgcctcttggagtg	6	15	11	9	0	3	1	1	1	2	0	3	2	3	2	1	2	2	3	1	2	2	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:123147861G>A	ENST00000264501.4	+	24	3166		c.e24-1		KIAA1109_ENST00000495260.1_Splice_Site|KIAA1109_ENST00000455637.1_Splice_Site|KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATTATCTGTAGCTGGCATGCC	0.403																																																	0													216	206	210					4																	123147861		1992	4176	6168	SO:0001630	splice_region_variant	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2794-1G>A	4.37:g.123147861G>A			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Splice_Site	SNP	-	e22-1	ENST00000264501.4	37	c.2794-1	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600889	0.87055	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000424425	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8624	0.96787	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA1109	123367311	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.399000	0.97285	2.709000	0.92574	0.585000	0.79938	.	KIAA1109	-	-	ENSG00000138688		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	44	0	G	NM_020797	Intron	123147861	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	splice_site	48.08	27	25	SNP	1.000	A	A	123147861	G	A	123147861	5	1	46	1	0	0	0	0	0	0	1	0	8235	985	34	3	2879	3	KIAA1109	4	123147861	Splice_Site	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	12175126	123147861	68006415	51	11172											
FGA	2243	genome.wustl.edu	37	chr4	155505987	155505988	+	Splice_Site	INS	-	-	A																															ggaggacatcatcacagtctINSaaaaaaaaaattaagctggt																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:155505987_155505988insA	ENST00000302053.3	-	6	1970		c.e6-2			NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain						blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATCACAGTCTAAAAAAAAAAT	0.366																																					NSCLC(143;340 1922 20892 22370 48145)												0																																										SO:0001630	splice_region_variant	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1892-2->T	4.37:g.155505997_155505997dupA			A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Splice_Site	INS	-	e6-2	ENST00000302053.3	37	c.1892-3_1892-2	CCDS3787.1	4																																																																																			FGA	-	-	ENSG00000171560		0.366	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1		0	37	0	-	NM_000508	Intron	155505988	-1	tier1		no_errors	ENST00000302053	ensembl	human	known	74_37	splice_site_ins	6.25	30	2	INS	1.000:1.000	A	A	155505988	-	A	155505987	8	5	46	1	0	1	1	0	0	0	1	0	5852	1536	53	0	714	0	FGA	4	155505987	Splice_Site	INS	-	TCGA-JY-A93F-01A-21D-A37C-09	32358126	155505987	35648289	52	11173											
GLRB	2743	genome.wustl.edu	37	chr4	158073901	158073901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagcttggcctctgaGtgcacaacccttgccgctga	6	10	10	15	1	2	2	1	2	1	0	3	2	3	2	4	1	4	3	4	1	1	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:158073901G>T	ENST00000264428.4	+	9	1206	c.936G>T	c.(934-936)gaG>gaT	p.E312D	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.E312D|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	312					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TGGCCTCTGAGTGCACAACCC	0.463																																																	0													195	189	191					4																	158073901		2203	4300	6503	SO:0001583	missense	0			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.936G>T	4.37:g.158073901G>T	ENSP00000264428:p.Glu312Asp		A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E312D	ENST00000264428.4	37	c.936	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138178	0.56936	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.85484	-1.99;-1.99	5.61	4.65	0.58169	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.150830	0.64402	D	0.000015	D	0.84447	0.5474	L	0.31065	0.9	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.83710	0.0187	10	0.62326	D	0.03	.	3.6539	0.08213	0.3447:0.0:0.6553:0.0	.	312	P48167	GLRB_HUMAN	D	312	ENSP00000264428:E312D;ENSP00000427186:E312D	ENSP00000264428:E312D	E	+	3	2	GLRB	158293351	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.708000	0.47152	2.642000	0.89623	0.650000	0.86243	GAG	GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000109738		0.463	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	-	0	58	0	G	NM_000824		158073901	1	tier1	-	no_errors	ENST00000264428	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	158073901	G	T	158073901	3	4	46	1	0	0	0	0	1	0	0	0	6484	1020	36	3	966	3	GLRB	4	158073901	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	2567914	158073901	33080375	53	11174											
WDR17	116966	genome.wustl.edu	37	chr4	177052812	177052812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcttcctcctggtcatGcagtgtgttgtttcttggat	3	20	9	9	0	3	0	1	0	2	0	6	1	5	1	2	2	1	3	2	2	0	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr4:177052812G>A	ENST00000280190.4	+	8	1249	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	WDR17_ENST00000508596.1_Missense_Mutation_p.A341T|WDR17_ENST00000393643.2_Missense_Mutation_p.A341T|WDR17_ENST00000507824.2_Missense_Mutation_p.A348T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	365										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TCCTGGTCATGCAGTGTGTTG	0.408																																																	0													294	284	287					4																	177052812		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1093G>A	4.37:g.177052812G>A	ENSP00000280190:p.Ala365Thr		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A365T	ENST00000280190.4	37	c.1093	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.58|15.58	2.876184|2.876184	0.51801|0.51801	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824|ENST00000505894	T;T;T|.	0.57595|.	0.4;0.43;0.39|.	5.45|5.45	5.45|5.45	0.79879|0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.311450|.	0.33591|.	N|.	0.004757|.	T|T	0.29028|0.29028	0.0721|0.0721	N|N	0.08118|0.08118	0|0	0.31276|0.31276	N|N	0.691145|0.691145	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.09377|.	0.004;0.004|.	T|T	0.21690|0.21690	-1.0238|-1.0238	10|5	0.37606|.	T|.	0.19|.	-7.4256|-7.4256	14.8403|14.8403	0.70217|0.70217	0.071:0.0:0.929:0.0|0.071:0.0:0.929:0.0	.|.	341;365|.	E7EQX0;Q8IZU2|.	.;WDR17_HUMAN|.	T|I	341;341;365;348|113	ENSP00000422763:A341T;ENSP00000377258:A341T;ENSP00000280190:A365T|.	ENSP00000280190:A365T|.	A|M	+|+	1|3	0|0	WDR17|WDR17	177289806|177289806	1.000000|1.000000	0.71417|0.71417	0.793000|0.793000	0.32043|0.32043	0.657000|0.657000	0.38888|0.38888	6.114000|6.114000	0.71560|0.71560	2.723000|2.723000	0.93209|0.93209	0.655000|0.655000	0.94253|0.94253	GCA|ATG	WDR17	-	superfamily_WD40_repeat_dom	ENSG00000150627		0.408	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0	55	0	G			177052812	1			no_errors	ENST00000280190	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.994	A	A	177052812	G	A	177052812	3	1	46	1	0	0	0	0	1	0	0	0	17326	1319	46	3	1119	3	WDR17	4	177052812	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	18978911	177052812	14101464	54	11175											
DNAH5	1767	genome.wustl.edu	37	chr5	13692122	13692122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacacagaagggcaacccCacggagcacccagtgttcag	13	4	10	14	1	2	1	2	0	0	1	2	2	2	2	3	2	2	3	3	2	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:13692122C>T	ENST00000265104.4	-	79	13950	c.13846G>A	c.(13846-13848)Ggg>Agg	p.G4616R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4616					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGGCAACCCCACGGAGCACC	0.488									Kartagener syndrome																																								0													112	104	107					5																	13692122		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13846G>A	5.37:g.13692122C>T	ENSP00000265104:p.Gly4616Arg		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G4616R	ENST00000265104.4	37	c.13846	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.506510	0.96386	.	.	ENSG00000039139	ENST00000265104	T	0.15603	2.41	5.76	5.76	0.90799	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74054	-0.3788	10	0.87932	D	0	.	19.9618	0.97254	0.0:1.0:0.0:0.0	.	4616	Q8TE73	DYH5_HUMAN	R	4616	ENSP00000265104:G4616R	ENSP00000265104:G4616R	G	-	1	0	DNAH5	13745122	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.818000	0.86416	2.722000	0.93159	0.650000	0.86243	GGG	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.488	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	39	0	C	NM_001369		13692122	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	32.73	37	18	SNP	1.000	T	T	13692122	C	T	13692122	3	4	46	1	0	0	0	0	1	0	0	0	4618	594	21	3	32	3	DNAH5	5	13692122	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		13692122	167223138	55	11176											
DNAH5	1767	genome.wustl.edu	37	chr5	13793738	13793738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accaggatggatcatggctgCcaaaaactggatgtccacga	13	7	11	10	1	1	0	1	0	0	0	2	4	2	3	3	4	2	1	3	4	2	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:13793738C>T	ENST00000265104.4	-	49	8214	c.8110G>A	c.(8110-8112)Gca>Aca	p.A2704T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2704	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCATGGCTGCCAAAAACTGG	0.468									Kartagener syndrome																																								0													148	148	148					5																	13793738		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8110G>A	5.37:g.13793738C>T	ENSP00000265104:p.Ala2704Thr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2704T	ENST00000265104.4	37	c.8110	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.394303	0.96009	.	.	ENSG00000039139	ENST00000265104	T	0.50001	0.76	5.7	5.7	0.88788	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.75287	0.3829	M	0.88450	2.955	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	T	0.79574	-0.1747	10	0.87932	D	0	.	19.8349	0.96652	0.0:1.0:0.0:0.0	.	2704	Q8TE73	DYH5_HUMAN	T	2704	ENSP00000265104:A2704T	ENSP00000265104:A2704T	A	-	1	0	DNAH5	13846738	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.687000	0.84139	2.691000	0.91804	0.557000	0.71058	GCA	DNAH5	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000039139		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	46	0	C	NM_001369		13793738	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	T	T	13793738	C	T	13793738	3	4	46	1	0	0	0	0	1	0	0	0	4618	739	26	3	5888	3	DNAH5	5	13793738	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	101616	13793738	167121522	56	11177											
BASP1	10409	genome.wustl.edu	37	chr5	17275448	17275448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccccgaaggagagtgaGccccaggcggccgcagagcc	9	1	17	14	3	0	3	0	1	0	2	0	6	0	4	6	4	2	1	6	4	1	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:17275448G>T	ENST00000322611.3	+	2	383	c.123G>T	c.(121-123)gaG>gaT	p.E41D		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	41					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						AGGAGAGTGAGCCCCAGGCGG	0.657																																																	0													23	29	27					5																	17275448		2196	4288	6484	SO:0001583	missense	0			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.123G>T	5.37:g.17275448G>T	ENSP00000319281:p.Glu41Asp		B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	pfam_BASP1	p.E41D	ENST00000322611.3	37	c.123	CCDS3888.1	5	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349180	0.24426	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.46063	0.88	4.57	1.67	0.24075	.	0.229900	0.28847	N	0.013953	T	0.32912	0.0845	L	0.54323	1.7	0.40517	D	0.980791	B	0.12013	0.005	B	0.17433	0.018	T	0.08411	-1.0723	10	0.29301	T	0.29	-9.9424	6.5528	0.22444	0.1719:0.1486:0.6796:0.0	.	41	P80723	BASP1_HUMAN	D	41	ENSP00000319281:E41D	ENSP00000319281:E41D	E	+	3	2	BASP1	17328448	1.000000	0.71417	0.426000	0.26672	0.521000	0.34408	1.631000	0.37092	0.013000	0.14918	0.455000	0.32223	GAG	BASP1	-	pfam_BASP1	ENSG00000176788		0.657	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BASP1	HGNC	protein_coding	OTTHUMT00000253716.2	-	0	23	0	G			17275448	1	tier1	-	no_errors	ENST00000322611	ensembl	human	known	74_37	missense	41.67	13	10	SNP	0.978	T	T	17275448	G	T	17275448	3	4	46	1	0	0	0	0	1	0	0	0	1318	962	34	3	125	3	BASP1	5	17275448	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	3481710	17275448	163639812	57	11178											
SPEF2	79925	genome.wustl.edu	37	chr5	35814614	35814614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtacaaggaagtgatGgagagagatcaccttcaaga	17	7	11	6	0	2	4	2	1	0	3	2	7	2	5	1	2	2	1	1	2	5	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:35814614G>A	ENST00000356031.3	+	37	5582	c.5428G>A	c.(5428-5430)Gga>Aga	p.G1810R	SPEF2_ENST00000303129.4_Missense_Mutation_p.G607R|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1810					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAAGTGATGGAGAGAGATC	0.303																																																	0													71	65	67					5																	35814614		1822	4077	5899	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.5428G>A	5.37:g.35814614G>A	ENSP00000348314:p.Gly1810Arg		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.G1810R	ENST00000356031.3	37	c.5428	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566854	0.65651	.	.	ENSG00000152582	ENST00000356031;ENST00000303129	T;T	0.54279	3.04;0.58	5.25	4.37	0.52481	.	0.516257	0.17947	N	0.156651	T	0.47764	0.1463	L	0.29908	0.895	0.30078	N	0.809457	D;P	0.55172	0.97;0.845	P;B	0.49708	0.62;0.311	T	0.45512	-0.9256	10	0.40728	T	0.16	.	11.7982	0.52112	0.0883:0.0:0.9116:0.0	.	607;1810	Q9C093-4;Q9C093	.;SPEF2_HUMAN	R	1810;607	ENSP00000348314:G1810R;ENSP00000303843:G607R	ENSP00000303843:G607R	G	+	1	0	SPEF2	35850371	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	5.203000	0.65174	2.624000	0.88883	0.467000	0.42956	GGA	SPEF2	-	NULL	ENSG00000152582		0.303	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	44	0	G	NM_144722		35814614	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.998	A	A	35814614	G	A	35814614	3	1	46	1	0	0	0	0	1	0	0	0	15082	1349	47	3	5595	3	SPEF2	5	35814614	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	18539166	35814614	145100646	58	11179											
C6	729	genome.wustl.edu	37	chr5	41154084	41154084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttcctgcacaactggCttgatgcactccgtccctgc	7	10	9	15	1	0	1	0	1	0	0	3	2	3	2	3	2	4	3	3	2	1	2	rs375320778		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:41154084C>G	ENST00000263413.3	-	15	2382	c.2118G>C	c.(2116-2118)aaG>aaC	p.K706N	C6_ENST00000337836.5_Missense_Mutation_p.K706N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	706	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCACAACTGGCTTGATGCACT	0.413																																																	0													106	96	99					5																	41154084		2203	4300	6503	SO:0001583	missense	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2118G>C	5.37:g.41154084C>G	ENSP00000263413:p.Lys706Asn			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.K706N	ENST00000263413.3	37	c.2118	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065388	0.55432	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.41400	1.0;1.0	5.59	2.84	0.33178	Complement control module (3);Sushi/SCR/CCP (2);	0.323086	0.34986	N	0.003534	T	0.54791	0.1880	M	0.72894	2.215	0.40426	D	0.979899	D	0.53462	0.96	P	0.58077	0.832	T	0.54556	-0.8276	10	0.52906	T	0.07	-3.7325	9.9914	0.41874	0.0:0.724:0.0:0.276	.	706	P13671	CO6_HUMAN	N	706	ENSP00000338861:K706N;ENSP00000263413:K706N	ENSP00000263413:K706N	K	-	3	2	C6	41189841	0.993000	0.37304	0.933000	0.37362	0.641000	0.38312	0.210000	0.17455	0.305000	0.22832	0.650000	0.86243	AAG	C6	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000039537		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1		0	44	0	C			41154084	-1			no_errors	ENST00000263413	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.998	G	G	41154084	C	G	41154084	3	3	46	1	0	0	0	0	1	0	0	0	2322	796	28	5	702	5	C6	5	41154084	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	5339470	41154084	139761176	59	11180											
ERBB2IP	55914	genome.wustl.edu	37	chr5	65338949	65338949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttttaacccttcattgtggGaggaacagaggaaacagcgg	12	9	13	7	1	1	1	1	0	0	1	1	4	1	4	1	4	4	1	1	4	3	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:65338949G>A	ENST00000284037.5	+	16	1740	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	ERBB2IP_ENST00000380935.1_Missense_Mutation_p.E451K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.E451K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.E451K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.E451K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.E451K|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.E451K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.E451K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.E451K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	451					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTCATTGTGGGAGGAACAGAG	0.353																																																	0													80	77	78					5																	65338949		2203	4299	6502	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1351G>A	5.37:g.65338949G>A	ENSP00000284037:p.Glu451Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E451K	ENST00000284037.5	37	c.1351	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.423499	0.96111	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.991;0.998;0.997;0.997;0.999;0.997	D;P;D;P;D;D;D	0.79784	0.958;0.771;0.993;0.87;0.985;0.966;0.916	T	0.65307	-0.6200	10	0.87932	D	0	.	20.0085	0.97443	0.0:0.0:1.0:0.0	.	451;451;451;451;451;451;451	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	451	ENSP00000284037:E451K;ENSP00000370330:E451K;ENSP00000370326:E451K;ENSP00000370323:E451K;ENSP00000370322:E451K;ENSP00000370325:E451K;ENSP00000422766:E451K;ENSP00000426632:E451K;ENSP00000422015:E451K	ENSP00000284037:E451K	E	+	1	0	ERBB2IP	65374705	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.388000	0.97237	2.814000	0.96858	0.650000	0.86243	GAG	ERBB2IP	-	NULL	ENSG00000112851		0.353	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	-	0	61	0	G	NM_018695		65338949	1	tier1	-	no_errors	ENST00000284037	ensembl	human	known	74_37	missense	33.72	57	29	SNP	1.000	A	A	65338949	G	A	65338949	3	1	46	1	0	0	0	0	1	0	0	0	5223	1175	41	3	1405	3	ERBB2IP	5	65338949	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	24184865	65338949	115576311	60	11181											
ARSB	411	genome.wustl.edu	37	chr5	78135223	78135223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaatattatgcagcagcTcaattctgggggatgggctt	9	12	13	7	0	3	0	2	0	1	0	3	1	3	1	0	4	3	4	0	4	4	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:78135223T>A	ENST00000264914.4	-	6	1705	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V	ARSB_ENST00000396151.3_Missense_Mutation_p.E390V|ARSB_ENST00000565165.1_Missense_Mutation_p.E390V	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	390					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		ATGCAGCAGCTCAATTCTGGG	0.413																																					Melanoma(169;563 1968 25780 26156 52266)												0													129	129	129					5																	78135223		2203	4300	6503	SO:0001583	missense	0			M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"Arylsulfatase family"	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.1169A>T	5.37:g.78135223T>A	ENSP00000264914:p.Glu390Val		B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E390V	ENST00000264914.4	37	c.1169	CCDS4043.1	5	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856924	0.71834	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.96491	-4.03;-4.03	5.78	5.78	0.91487	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.048876	0.85682	D	0.000000	D	0.97914	0.9314	M	0.80183	2.485	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.81914	0.98;0.995	D	0.98541	1.0632	10	0.66056	D	0.02	.	14.0514	0.64739	0.0:0.0:0.0:1.0	.	390;390	Q8N322;P15848	.;ARSB_HUMAN	V	390	ENSP00000264914:E390V;ENSP00000379455:E390V	ENSP00000264914:E390V	E	-	2	0	ARSB	78170979	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	4.993000	0.63895	2.207000	0.71202	0.459000	0.35465	GAG	ARSB	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000113273		0.413	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSB	HGNC	protein_coding	OTTHUMT00000226932.2	-	0	36	0	T	NM_000046		78135223	-1	tier1	-	no_errors	ENST00000264914	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	A	A	78135223	T	A	78135223	3	1	46	1	0	0	0	0	1	0	0	0	989	1551	54	5	477	5	ARSB	5	78135223	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	12796274	78135223	102780037	61	11182											
SEMA6A	57556	genome.wustl.edu	37	chr5	115827448	115827448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcttacctgcaaacagtgCaacgttggcatgtttggcat	9	12	10	10	2	0	0	0	0	0	0	1	0	0	0	1	2	5	7	1	2	3	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:115827448C>T	ENST00000343348.6	-	7	1310	c.523G>A	c.(523-525)Gca>Aca	p.A175T	SEMA6A_ENST00000510263.1_Missense_Mutation_p.A175T|SEMA6A_ENST00000503962.1_5'UTR|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A175T|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	175	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.A175T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GCAAACAGTGCAACGTTGGCA	0.448																																																	1	Substitution - Missense(1)	ovary(1)											130	132	132					5																	115827448		2004	4171	6175	SO:0001583	missense	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.523G>A	5.37:g.115827448C>T	ENSP00000345512:p.Ala175Thr		Q9P2H9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.A175T	ENST00000343348.6	37	c.523	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.295220	0.95574	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	T;T;T	0.11277	2.79;2.79;2.79	6.08	6.08	0.98989	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.25984	-1.0116	10	0.87932	D	0	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	175;175	Q9H2E6;Q9H2E6-2	SEM6A_HUMAN;.	T	175	ENSP00000345512:A175T;ENSP00000257414:A175T;ENSP00000424388:A175T	ENSP00000257414:A175T	A	-	1	0	SEMA6A	115855347	1.000000	0.71417	0.936000	0.37596	0.645000	0.38454	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GCA	SEMA6A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000092421		0.448	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1		0	27	0	C	NM_020796		115827448	-1			no_errors	ENST00000257414	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	115827448	C	T	115827448	3	4	46	1	0	0	0	0	1	0	0	0	14084	710	25	3	2621	3	SEMA6A	5	115827448	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	37692225	115827448	65087812	62	11183											
SNCAIP	9627	genome.wustl.edu	37	chr5	121786488	121786488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggatgctcaggcttcctCtagaaattctaaaaagatcc	13	10	7	11	0	3	2	1	0	2	2	5	3	5	3	3	2	1	2	3	2	5	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:121786488C>T	ENST00000261368.8	+	10	2208	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F	SNCAIP_ENST00000414317.2_Missense_Mutation_p.S251F|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S696F|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S696F|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S589F|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S207F|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S283F|CTC-210G5.1_ENST00000503529.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	649					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGGCTTCCTCTAGAAATTCT	0.458																																																	0													37	41	40					5																	121786488		2203	4300	6503	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1946C>T	5.37:g.121786488C>T	ENSP00000261368:p.Ser649Phe		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S696F	ENST00000261368.8	37	c.2087	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456144	0.63401	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.14144	4.35;4.88;2.58;2.53;4.88;4.85;2.53;4.57	6.06	5.19	0.71726	.	0.131690	0.53938	D	0.000058	T	0.34279	0.0892	M	0.73217	2.22	0.39499	D	0.968162	B;B;B;P;B;P;D;P	0.65815	0.103;0.23;0.141;0.696;0.22;0.946;0.995;0.911	B;B;B;B;B;P;P;P	0.61201	0.094;0.186;0.108;0.421;0.193;0.598;0.885;0.521	T	0.22138	-1.0225	10	0.72032	D	0.01	-6.3086	15.1649	0.72814	0.1412:0.8588:0.0:0.0	.	589;277;251;589;283;283;696;649	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	F	207;589;649;696;589;283;696;251;289	ENSP00000441681:S207F;ENSP00000422106:S589F;ENSP00000261368:S649F;ENSP00000368848:S696F;ENSP00000368851:S589F;ENSP00000368854:S283F;ENSP00000261367:S696F;ENSP00000394392:S251F	ENSP00000261367:S696F	S	+	2	0	SNCAIP	121814387	0.965000	0.33210	0.750000	0.31169	0.885000	0.51271	4.572000	0.60886	1.551000	0.49450	0.655000	0.94253	TCT	SNCAIP	-	NULL	ENSG00000064692		0.458	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	-	0	38	0	C			121786488	1	tier1	-	no_errors	ENST00000379533	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	T	T	121786488	C	T	121786488	3	4	46	1	0	0	0	0	1	0	0	0	14886	913	32	3	1980	3	SNCAIP	5	121786488	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	5959040	121786488	59128772	63	11184											
ZNF608	57507	genome.wustl.edu	37	chr5	124080411	124080411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaattcccctggggagcaGaggcctgaacagaagcaaat	13	6	13	9	0	0	4	0	2	0	2	1	5	1	5	3	3	3	2	3	3	4	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:124080411G>A	ENST00000306315.5	-	1	707	c.272C>T	c.(271-273)tCt>tTt	p.S91F	ZNF608_ENST00000504926.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	91							metal ion binding (GO:0046872)	p.S91F(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGGGGAGCAGAGGCCTGAAC	0.498																																																	1	Substitution - Missense(1)	breast(1)											86	81	83					5																	124080411		2203	4300	6503	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.272C>T	5.37:g.124080411G>A	ENSP00000307746:p.Ser91Phe		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.S91F	ENST00000306315.5	37	c.272	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134983	0.56828	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.54279	0.58	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000011	T	0.62502	0.2433	L	0.59436	1.845	0.45129	D	0.998141	P	0.52692	0.955	P	0.51135	0.66	T	0.63808	-0.6553	10	0.54805	T	0.06	-13.3114	19.2512	0.93926	0.0:0.0:1.0:0.0	.	91	Q9ULD9	ZN608_HUMAN	F	91	ENSP00000307746:S91F	ENSP00000307746:S91F	S	-	2	0	ZNF608	124108310	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	2.799000	0.47892	2.719000	0.93026	0.655000	0.94253	TCT	ZNF608	-	NULL	ENSG00000168916		0.498	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	-	0	52	0	G	XM_114432		124080411	-1	tier1	-	no_errors	ENST00000306315	ensembl	human	known	74_37	missense	34.43	40	21	SNP	1.000	A	A	124080411	G	A	124080411	3	1	46	1	0	0	0	0	1	0	0	0	18082	942	33	3	4302	3	ZNF608	5	124080411	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	2293923	124080411	56834849	64	11185											
FAM13B	51306	genome.wustl.edu	37	chr5	137289026	137289026	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaatgctacaaacctaccTtgctatttctttccctttca	9	15	5	12	0	2	0	1	0	1	0	3	1	3	1	3	1	5	2	3	1	5	7			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:137289026T>A	ENST00000033079.3	-	15	2232	c.1781A>T	c.(1780-1782)aAg>aTg	p.K594M	FAM13B_ENST00000425075.2_Splice_Site_p.K498M|FAM13B_ENST00000420893.2_Splice_Site_p.K594M	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	594					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						CAAACCTACCTTGCTATTTCT	0.368																																																	0													204	197	199					5																	137289026		2203	4300	6503	SO:0001630	splice_region_variant	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1782+1A>T	5.37:g.137289026T>A			D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K594M	ENST00000033079.3	37	c.1781	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124506	0.77436	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95788	-3.81;1.25;-3.81	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.97182	0.9079	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	D	0.97833	1.0264	10	0.72032	D	0.01	-10.1138	15.2957	0.73906	0.0:0.0:0.0:1.0	.	498;594;594	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	M	594;498;594	ENSP00000033079:K594M;ENSP00000394669:K498M;ENSP00000388521:K594M	ENSP00000033079:K594M	K	-	2	0	FAM13B	137316925	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	3.967000	0.56802	2.001000	0.58596	0.477000	0.44152	AAG	FAM13B	-	NULL	ENSG00000031003		0.368	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	-	0	55	0	T		Missense_Mutation	137289026	-1	tier1	-	no_errors	ENST00000033079	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	137289026	T	A	137289026	5	1	46	1	0	0	0	0	0	0	1	0	5472	1623	56	5	1002	5	FAM13B	5	137289026	Splice_Site	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	13208615	137289026	43626234	65	11186											
KDM3B	51780	genome.wustl.edu	37	chr5	137759943	137759943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccatacttctcactcctgGctttgtgatgggaggcttct	5	14	9	13	0	2	1	1	1	2	0	4	2	3	2	3	3	1	2	3	3	1	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:137759943G>C	ENST00000314358.5	+	16	4352	c.4152G>C	c.(4150-4152)tgG>tgC	p.W1384C	KDM3B_ENST00000394866.1_Missense_Mutation_p.W1040C|KDM3B_ENST00000542866.1_Missense_Mutation_p.W416C	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1384					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCACTCCTGGCTTTGTGATG	0.483																																																	0													114	99	104					5																	137759943		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4152G>C	5.37:g.137759943G>C	ENSP00000326563:p.Trp1384Cys		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.W1384C	ENST00000314358.5	37	c.4152	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267371	0.80469	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.70986	-0.53;-0.53;-0.53	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.85682	0.5753	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87192	0.2235	10	0.87932	D	0	-39.7662	19.3586	0.94425	0.0:0.0:1.0:0.0	.	1040;1384	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	C	1384;1174;1040;416	ENSP00000326563:W1384C;ENSP00000378335:W1040C;ENSP00000439462:W416C	ENSP00000326563:W1384C	W	+	3	0	KDM3B	137787842	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.567000	0.86603	0.563000	0.77884	TGG	KDM3B	-	NULL	ENSG00000120733		0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	54	0	G	NM_016604		137759943	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	41.11	53	37	SNP	1.000	C	C	137759943	G	C	137759943	3	2	46	1	0	0	0	0	1	0	0	0	8154	1212	42	5	4214	5	KDM3B	5	137759943	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	470917	137759943	43155317	66	11187											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755131	140755131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctactcactggcagaagAcaccctccagggggcgcccc	8	5	10	18	1	1	2	1	0	0	2	3	2	3	2	5	3	1	1	5	3	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:140755131A>G	ENST00000517434.1	+	1	1481	c.1481A>G	c.(1480-1482)gAc>gGc	p.D494G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	494	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCAGAAGACACCCTCCAG	0.582																																																	0													110	126	121					5																	140755131		2088	4235	6323	SO:0001583	missense	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1481A>G	5.37:g.140755131A>G	ENSP00000429601:p.Asp494Gly		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D494G	ENST00000517434.1	37	c.1481	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	1.816	-0.473532	0.04445	.	.	ENSG00000253731	ENST00000517434	T	0.44083	0.93	5.13	0.151	0.14888	Cadherin (4);Cadherin-like (1);	1.888080	0.04317	U	0.350075	T	0.23611	0.0571	N	0.03917	-0.325	0.09310	N	1	B;B	0.16802	0.008;0.019	B;B	0.26693	0.012;0.072	T	0.27872	-1.0061	10	0.25751	T	0.34	.	9.6505	0.39895	0.5175:0.0:0.4825:0.0	.	494;494	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	G	494	ENSP00000429601:D494G	ENSP00000429601:D494G	D	+	2	0	PCDHGA6	140735315	0.006000	0.16342	0.009000	0.14445	0.055000	0.15305	1.237000	0.32695	0.150000	0.19136	0.533000	0.62120	GAC	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.582	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1		0	56	0	A	NM_018919		140755131	1			no_errors	ENST00000517434	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	G	G	140755131	A	G	140755131	3	3	46	1	0	0	0	0	1	0	0	0	11597	275	10	4	1483	4	PCDHGA6	5	140755131	Missense_Mutation	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	2995188	140755131	40160129	67	11188											
KIAA1191	57179	genome.wustl.edu	37	chr5	175775305	175775305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttggggtggactgggCtgatgcaggctgcctctctt	3	12	17	9	0	1	1	0	1	1	0	2	2	1	2	1	6	3	4	1	6	0	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:175775305C>A	ENST00000298569.4	-	7	1047	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S	KIAA1191_ENST00000393725.2_Missense_Mutation_p.A153S|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000533553.1_Missense_Mutation_p.S28I|KIAA1191_ENST00000510164.1_Missense_Mutation_p.A172S|KIAA1191_ENST00000393728.2_5'UTR	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	172						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GTGGACTGGGCTGATGCAGGC	0.502																																																	0													144	124	131					5																	175775305		2203	4300	6503	SO:0001583	missense	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.514G>T	5.37:g.175775305C>A	ENSP00000298569:p.Ala172Ser		B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Missense_Mutation	SNP	NULL	p.A172S	ENST00000298569.4	37	c.514	CCDS4399.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.352|9.352	1.065829|1.065829	0.20067|0.20067	.|.	.|.	ENSG00000122203|ENSG00000122203	ENST00000298569;ENST00000393725;ENST00000510164|ENST00000533553	.|.	.|.	.|.	5.3|5.3	1.3|1.3	0.21679|0.21679	.|.	0.538627|.	0.21006|.	N|.	0.081773|.	T|T	0.45577|0.45577	0.1349|0.1349	L|L	0.61218|0.61218	1.895|1.895	0.18873|0.18873	N|N	0.999989|0.999989	B|.	0.15473|.	0.013|.	B|.	0.19391|.	0.025|.	T|T	0.41034|0.41034	-0.9531|-0.9531	9|6	0.62326|0.87932	D|D	0.03|0	-0.7788|-0.7788	7.0778|7.0778	0.25213|0.25213	0.0:0.6611:0.1224:0.2164|0.0:0.6611:0.1224:0.2164	.|.	172|.	Q96A73|.	K1191_HUMAN|.	S|I	172;153;172|28	.|.	ENSP00000298569:A172S|ENSP00000433506:S28I	A|S	-|-	1|2	0|0	KIAA1191|KIAA1191	175707911|175707911	0.001000|0.001000	0.12720|0.12720	0.050000|0.050000	0.19076|0.19076	0.788000|0.788000	0.44548|0.44548	-0.015000|-0.015000	0.12634|0.12634	0.010000|0.010000	0.14839|0.14839	0.591000|0.591000	0.81541|0.81541	GCC|AGC	KIAA1191	-	NULL	ENSG00000122203		0.502	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	-	0	76	0	C	NM_020444		175775305	-1	tier1	-	no_errors	ENST00000298569	ensembl	human	known	74_37	missense	13.33	65	10	SNP	0.422	A	A	175775305	C	A	175775305	3	1	46	1	0	0	0	0	1	0	0	0	8239	797	28	3	415	3	KIAA1191	5	175775305	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	35020174	175775305	5139955	68	11189											
UNC5A	90249	genome.wustl.edu	37	chr5	176289624	176289624	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccctctgccctgccgcaGgtgcccagcagagtgccacc	5	6	10	20	1	1	1	0	0	1	1	2	1	2	1	7	1	5	2	7	1	0	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:176289624G>T	ENST00000329542.4	+	2	344		c.e2-1		UNC5A_ENST00000261961.3_5'Flank	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)						anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCCGCAGGTGCCCAGCA	0.657																																																	0													37	35	35					5																	176289624		2203	4299	6502	SO:0001630	splice_region_variant	0			AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"Immunoglobulin superfamily / I-set domain containing"	12567	protein-coding gene	gene with protein product		607869	"unc5 (C.elegans homolog) a"				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.71-1G>T	5.37:g.176289624G>T			B2RXE6|Q8TF26|Q96GP4	Splice_Site	SNP	-	e2-1	ENST00000329542.4	37	c.71-1	CCDS34299.1	5	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133820	0.56828	.	.	ENSG00000113763	ENST00000329542	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4942	0.84223	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC5A	176222230	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	9.387000	0.97232	2.206000	0.71126	0.561000	0.74099	.	UNC5A	-	-	ENSG00000113763		0.657	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5A	HGNC	protein_coding	OTTHUMT00000372166.1		0	40	0	G	XM_030300	Intron	176289624	1			no_errors	ENST00000329542	ensembl	human	known	74_37	splice_site	6.67	42	3	SNP	1.000	T	T	176289624	G	T	176289624	5	4	46	1	0	0	0	0	0	0	1	0	17040	1014	35	3	76	3	UNC5A	5	176289624	Splice_Site	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	514319	176289624	4625636	69	11190											
NSD1	64324	genome.wustl.edu	37	chr5	176694593	176694593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgtgattcttgccCtgctgcttttcatcgtgaat	4	18	9	10	1	3	2	1	2	2	0	4	2	3	2	1	0	4	3	1	0	1	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:176694593C>T	ENST00000439151.2	+	15	5222	c.5177C>T	c.(5176-5178)cCt>cTt	p.P1726L	NSD1_ENST00000354179.4_Missense_Mutation_p.P1457L|NSD1_ENST00000361032.4_Missense_Mutation_p.P1623L|NSD1_ENST00000347982.4_Missense_Mutation_p.P1457L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1726					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P1726L(1)|p.P1726H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GATTCTTGCCCTGCTGCTTTT	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM033420	NSD1	M							233	216	222					5																	176694593		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5177C>T	5.37:g.176694593C>T	ENSP00000395929:p.Pro1726Leu		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P1726L	ENST00000439151.2	37	c.5177	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.312496	0.95655	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	5.51	5.51	0.81932	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000024	D	0.94414	0.8203	M	0.84773	2.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94844	0.8007	10	0.87932	D	0	.	19.4078	0.94655	0.0:1.0:0.0:0.0	.	1457;1623;1726	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	L	1457;1726;1457;1623	ENSP00000346111:P1457L;ENSP00000395929:P1726L;ENSP00000343209:P1457L;ENSP00000354310:P1623L	ENSP00000343209:P1457L	P	+	2	0	NSD1	176627199	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.600000	0.87896	0.655000	0.94253	CCT	NSD1	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000165671		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	25	0	C	NM_172349		176694593	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	53.85	18	21	SNP	1.000	T	T	176694593	C	T	176694593	3	4	46	1	0	0	0	0	1	0	0	0	10708	681	24	3	5231	3	NSD1	5	176694593	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	404969	176694593	4220667	70	11191											
NSD1	64324	genome.wustl.edu	37	chr5	176709465	176709465	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtatttcttgttctaGggtgaatttgtgaatgagta	10	16	13	2	0	2	3	0	3	2	0	2	4	2	4	0	3	0	3	0	3	5	7			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr5:176709465G>A	ENST00000439151.2	+	19	5937		c.e19-1		NSD1_ENST00000354179.4_Splice_Site|NSD1_ENST00000361032.4_Splice_Site|NSD1_ENST00000347982.4_Splice_Site	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1						gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTTGTTCTAGGGTGAATTTG	0.328			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													202	203	203					5																	176709465		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5893-1G>A	5.37:g.176709465G>A			Q96PD8|Q96RN7	Splice_Site	SNP	-	e18-1	ENST00000439151.2	37	c.5893-1	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.227339	0.95173	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2543	0.98414	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NSD1	176642071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.884000	0.98904	0.655000	0.94253	.	NSD1	-	-	ENSG00000165671		0.328	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	44	0	G	NM_172349	Intron	176709465	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	splice_site	33.80	47	24	SNP	1.000	A	A	176709465	G	A	176709465	5	1	46	1	0	0	0	0	0	0	1	0	10708	1014	35	3	5962	3	NSD1	5	176709465	Splice_Site	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	14872	176709465	4205795	71	11192											
DTNBP1	84062	genome.wustl.edu	37	chr6	15533520	15533520	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaggtactgctccatGtcctgctggaaggcttcctc	6	11	12	12	0	0	0	0	0	0	0	4	2	3	2	3	4	3	4	3	4	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:15533520G>A	ENST00000344537.5	-	8	790	c.618C>T	c.(616-618)gaC>gaT	p.D206D	DTNBP1_ENST00000338950.5_Silent_p.D206D|DTNBP1_ENST00000462989.2_Silent_p.D50D|DTNBP1_ENST00000355917.3_Silent_p.D207D	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	206	Dysbindin.				actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			ACTGCTCCATGTCCTGCTGGA	0.602									Hermansky-Pudlak syndrome																																								0													146	124	131					6																	15533520		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.618C>T	6.37:g.15533520G>A			A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Silent	SNP	pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.D207	ENST00000344537.5	37	c.621	CCDS4534.1	6																																																																																			DTNBP1	-	pfam_Dysbindin	ENSG00000047579		0.602	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DTNBP1	HGNC	protein_coding	OTTHUMT00000039933.2	-	0	48	0	G	NM_032122		15533520	-1	tier1	-	no_errors	ENST00000355917	ensembl	human	known	74_37	silent	31.88	47	22	SNP	1.000	A	A	15533520	G	A	15533520	2	1	46	1	0	0	0	0	0	0	0	1	4804	1368	48	3		3	DTNBP1	6	15533520	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		15533520	155581547	72	11193											
HDGFL1	154150	genome.wustl.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC																															agggcggcggaagcggagagINSggcggcggcggcggcggcgg																								rs370190435|rs536582109	byFrequency	TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:22570346_22570347insGGC	ENST00000230012.3	+	1	669_670	c.542_543insGGC	c.(541-546)agggcg>agGGCggcg	p.188_189insA	HDGFL1_ENST00000510882.2_In_Frame_Ins_p.188_189insA	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767														170	0.0339457	0.0182	0.049	5008	,	,		12340	0.0159		0.0547	False		,,,				2504	0.0419																0																																										SO:0001652	inframe_insertion	0			AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"PWWP domain containing 1"	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.561_563dupGGC	6.37:g.22570353_22570355dupGGC	ENSP00000230012:p.Ala189_Ala190dup		Q96MJ6	In_Frame_Ins	INS	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.185in_frame_insA	ENST00000230012.3	37	c.542_543	CCDS34347.1	6																																																																																			HDGFL1	-	NULL	ENSG00000112273		0.767	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGFL1	HGNC	protein_coding	OTTHUMT00000043500.1		0	13	0	-	NM_138574		22570347	1	tier1		no_errors	ENST00000230012	ensembl	human	known	74_37	in_frame_ins	40.00	6	4	INS	0.000:0.000	GGC	GGC	22570347	-	GGC	22570346	7	5	46	1	0	1	1	0	0	0	0	0	7046	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-JY-A93F-01A-21D-A37C-09	7036826	22570346	148544721	73	11194											
ZNF323	64288	genome.wustl.edu	37	chr6	28294059	28294059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagtgtggactcggagatGctggaaaagccctgcattct	10	9	12	10	1	1	1	0	0	1	1	2	4	1	3	2	3	3	2	2	3	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:28294059G>T	ENST00000414429.1	-	8	2008	c.1105C>A	c.(1105-1107)Cat>Aat	p.H369N	ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.H369N|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.H369N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.H369N|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.H210N			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	369					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ACTCGGAGATGCTGGAAAAGC	0.473																																																	0													208	201	203					6																	28294059		2203	4300	6503	SO:0001583	missense	0				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"-", "Zinc fingers, C2H2-type"	14097	protein-coding gene	gene with protein product		610794	"zinc finger protein 310 pseudogene", "zinc finger protein 323"	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1105C>A	6.37:g.28294059G>T	ENSP00000390076:p.His369Asn		Q6P178|Q8WWS5	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H369N	ENST00000414429.1	37	c.1105	CCDS4649.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994960	0.74703	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.06	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92821	0.7717	H	0.95043	3.615	0.26365	N	0.976985	D	0.89917	1.0	D	0.97110	1.0	D	0.86378	0.1727	9	0.87932	D	0	.	9.1778	0.37123	0.0793:0.0:0.7753:0.1454	.	369	Q96LW9	ZN323_HUMAN	N	369;369;369;210;369	ENSP00000380050:H369N;ENSP00000413705:H369N;ENSP00000390076:H369N;ENSP00000402937:H210N;ENSP00000345339:H369N	ENSP00000345339:H369N	H	-	1	0	ZNF323	28402038	0.999000	0.42202	0.008000	0.14137	0.978000	0.69477	3.593000	0.54001	0.547000	0.28938	0.650000	0.86243	CAT	ZSCAN31	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000235109		0.473	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZSCAN31	HGNC	protein_coding	OTTHUMT00000346804.1		0	24	0	G	NM_030899		28294059	-1			no_errors	ENST00000344279	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.847	T	T	28294059	G	T	28294059	3	4	46	1	0	0	0	0	1	0	0	0	17891	1319	46	3	119	3	ZNF323	6	28294059	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	5723713	28294059	142821008	74	11195											
KIAA1949	170954	genome.wustl.edu	37	chr6	30653411	30653411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggggctctgatcccgcaTctccccagggctgggtctcc	3	10	12	16	1	3	1	0	1	3	0	6	1	4	1	4	4	0	3	4	4	0	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:30653411T>C	ENST00000274853.3	-	1	2261	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PPP1R18_ENST00000488324.1_Intron|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_Missense_Mutation_p.M129V	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	129						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TGATCCCGCATCTCCCCAGGG	0.612																																																	0													97	110	106					6																	30653411		1178	2508	3686	SO:0001583	missense	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.385A>G	6.37:g.30653411T>C	ENSP00000274853:p.Met129Val		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	NULL	p.M129V	ENST00000274853.3	37	c.385	CCDS43444.1	6	.	.	.	.	.	.	.	.	.	.	T	3.231	-0.157464	0.06544	.	.	ENSG00000146112	ENST00000274853;ENST00000399199;ENST00000376424	T;T	0.21361	2.01;2.01	5.09	1.29	0.21616	.	1.536680	0.03795	N	0.263415	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35251	-0.9796	10	0.20046	T	0.44	6.963	3.6295	0.08126	0.1992:0.2763:0.0:0.5245	.	129	Q6NYC8	PPR18_HUMAN	V	129	ENSP00000274853:M129V;ENSP00000382150:M129V	ENSP00000274853:M129V	M	-	1	0	KIAA1949	30761390	0.001000	0.12720	0.039000	0.18376	0.970000	0.65996	0.215000	0.17562	0.379000	0.24794	-0.290000	0.09829	ATG	PPP1R18	-	NULL	ENSG00000146112		0.612	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2	-	0	48	0	T	NM_133471		30653411	-1	tier1	-	no_errors	ENST00000274853	ensembl	human	known	74_37	missense	42.59	31	23	SNP	0.023	C	C	30653411	T	C	30653411	3	2	46	1	0	0	0	0	1	0	0	0	8290	1435	50	4	1468	4	KIAA1949	6	30653411	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	2359352	30653411	140461656	75	11196											
HLA-B	3106	genome.wustl.edu	37	chr6	31323325	31323325	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacctcagggtggcctCatggtcagagatggggtggt	7	8	16	10	0	3	1	3	0	0	1	3	2	3	1	3	6	1	1	3	6	0	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:31323325C>A	ENST00000412585.2	-	4	692	c.664G>T	c.(664-666)Gag>Tag	p.E222*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	222	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGGTGGCCTCATGGTCAGAG	0.577									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													83	85	85					6																	31323325		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.664G>T	6.37:g.31323325C>A	ENSP00000399168:p.Glu222*		Q29764	Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.E222*	ENST00000412585.2	37	c.664	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	19.69	3.873956	0.72180	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	.	.	.	3.16	-0.179	0.13299	.	0.494102	0.15702	U	0.248898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.8306	0.13437	0.0:0.4273:0.437:0.1357	.	.	.	.	X	222;101;101;233	.	ENSP00000399168:E222X	E	-	1	0	HLA-B	31431304	0.001000	0.12720	0.071000	0.20095	0.581000	0.36288	0.031000	0.13710	0.169000	0.19679	0.442000	0.29010	GAG	HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000234745		0.577	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	-	0	92	0	C	NM_005514		31323325	-1	tier1	-	no_errors	ENST00000412585	ensembl	human	known	74_37	nonsense	32.48	79	38	SNP	0.028	A	A	31323325	C	A	31323325	4	1	46	1	0	0	0	0	0	1	0	0	7223	835	29	3	440	3	HLA-B	6	31323325	Nonsense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	669914	31323325	139791742	76	11197											
ZBTB9	221504	genome.wustl.edu	37	chr6	33423364	33423364	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatgcccttctttccactAcatcctctacaggaggctgg	8	11	7	15	0	2	0	0	0	2	0	4	1	4	1	4	3	3	1	4	3	2	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:33423364A>T	ENST00000395064.2	+	2	755	c.487A>T	c.(487-489)Aca>Tca	p.T163S		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TCTTTCCACTACATCCTCTAC	0.502																																																	0													85	93	91					6																	33423364		2203	4300	6503	SO:0001583	missense	0			AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.487A>T	6.37:g.33423364A>T	ENSP00000378503:p.Thr163Ser		A2AB19	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T163S	ENST00000395064.2	37	c.487	CCDS4780.1	6	.	.	.	.	.	.	.	.	.	.	A	0.098	-1.157206	0.01686	.	.	ENSG00000213588	ENST00000395064	T	0.05786	3.39	4.72	-1.39	0.08997	.	0.265833	0.22248	U	0.062596	T	0.00754	0.0025	N	0.17082	0.46	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.45131	-0.9282	10	0.09084	T	0.74	.	4.122	0.10109	0.3807:0.0:0.0991:0.5202	.	163	Q96C00	ZBTB9_HUMAN	S	163	ENSP00000378503:T163S	ENSP00000378503:T163S	T	+	1	0	ZBTB9	33531342	0.000000	0.05858	0.003000	0.11579	0.303000	0.27691	-0.188000	0.09642	-0.032000	0.13758	-0.410000	0.06199	ACA	ZBTB9	-	NULL	ENSG00000213588		0.502	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB9	HGNC	protein_coding	OTTHUMT00000276533.1		0	36	0	A	NM_152735		33423364	1			no_errors	ENST00000395064	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.001	T	T	33423364	A	T	33423364	3	4	46	1	0	0	0	0	1	0	0	0	17606	391	14	5	489	5	ZBTB9	6	33423364	Missense_Mutation	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	2100039	33423364	137691703	77	11198											
TMEM63B	55362	genome.wustl.edu	37	chr6	44102778	44102778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttcttattctctatcCtccggaaggtggcctgggac	5	14	11	11	1	2	0	0	0	2	0	5	2	4	2	3	4	1	2	3	4	3	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:44102778C>A	ENST00000259746.9	+	3	367	c.184C>A	c.(184-186)Ctc>Atc	p.L62I	TMEM63B_ENST00000323267.6_Missense_Mutation_p.L62I			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	62					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ATTCTCTATCCTCCGGAAGGT	0.592																																																	0													87	75	79					6																	44102778		2203	4300	6503	SO:0001583	missense	0			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 110"	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.184C>A	6.37:g.44102778C>A	ENSP00000259746:p.Leu62Ile		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.L62I	ENST00000259746.9	37	c.184	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902348	0.33628	.	.	ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267	T;T;T	0.41400	1.0;1.0;1.0	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000002	T	0.40839	0.1133	L	0.42487	1.325	0.36866	D	0.888678	B;D	0.71674	0.036;0.998	B;D	0.77557	0.07;0.99	T	0.22208	-1.0223	10	0.30854	T	0.27	.	10.0545	0.42237	0.0:0.9006:0.0:0.0994	.	62;62	Q5T3F8;Q5T3F8-2	TM63B_HUMAN;.	I	62	ENSP00000259746:L62I;ENSP00000437163:L62I;ENSP00000327154:L62I	ENSP00000259746:L62I	L	+	1	0	TMEM63B	44210756	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.377000	0.34317	2.221000	0.72209	0.462000	0.41574	CTC	TMEM63B	-	NULL	ENSG00000137216		0.592	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	-	0	29	0	C	XM_166410		44102778	1	tier1	-	no_errors	ENST00000259746	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	44102778	C	A	44102778	3	1	46	1	0	0	0	0	1	0	0	0	16238	681	24	3	190	3	TMEM63B	6	44102778	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	10679414	44102778	127012289	78	11199											
C6orf142	90523	genome.wustl.edu	37	chr6	54122159	54122159	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcttgattccaaagaGgtaaatgtaagataggactg	15	10	11	5	0	1	3	0	1	1	2	2	5	2	4	1	2	1	3	1	2	6	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:54122159G>T	ENST00000274897.5	+	12	1484	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000370876.2_Splice_Site_p.E233D|MLIP_ENST00000358276.5_Splice_Site_p.E289D|MLIP_ENST00000502396.1_Splice_Site_p.E992D|MLIP_ENST00000370877.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	457						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ATTCCAAAGAGGTAAATGTAA	0.338																																																	0													108	105	106					6																	54122159		2203	4300	6503	SO:0001630	splice_region_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1371+1G>T	6.37:g.54122159G>T			B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.E457D	ENST00000274897.5	37	c.1371	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508606	0.64410	.	.	ENSG00000146147	ENST00000274897;ENST00000370876;ENST00000502396;ENST00000358276	T;T;T;T	0.44482	1.8;0.92;1.3;0.96	5.63	5.63	0.86233	.	0.087209	0.40469	N	0.001090	T	0.41880	0.1178	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.994	T	0.46020	-0.9221	10	0.87932	D	0	-0.5277	15.5271	0.75919	0.0:0.0:1.0:0.0	.	992;233;457	Q5VWP3-3;Q5VWP3-2;Q5VWP3	.;.;MLIP_HUMAN	D	457;233;992;289	ENSP00000274897:E457D;ENSP00000359913:E233D;ENSP00000426290:E992D;ENSP00000351019:E289D	ENSP00000274897:E457D	E	+	3	2	MLIP	54230118	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.234000	0.65343	2.818000	0.97014	0.591000	0.81541	GAG	MLIP	-	NULL	ENSG00000146147		0.338	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	-	0	67	0	G	NM_138569	Missense_Mutation	54122159	1	tier1	-	no_errors	ENST00000274897	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	54122159	G	T	54122159	5	4	46	1	0	0	0	0	0	0	1	0	2340	1014	35	3	1417	3	C6orf142	6	54122159	Splice_Site	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	10019381	54122159	116992908	79	11200											
DST	667	genome.wustl.edu	37	chr6	56417955	56417955	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttggtccatttccttcTgcagagactttaacttggca	8	15	9	9	0	1	1	0	0	1	1	3	2	3	1	2	2	2	3	2	2	1	6			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:56417955T>A	ENST00000361203.3	-	57	15009	c.15002A>T	c.(15001-15003)cAg>cTg	p.Q5001L	DST_ENST00000370788.2_Missense_Mutation_p.Q2915L|DST_ENST00000370769.4_Missense_Mutation_p.Q5003L|DST_ENST00000421834.2_Missense_Mutation_p.Q2915L|DST_ENST00000370754.5_Missense_Mutation_p.Q5181L|DST_ENST00000244364.6_Missense_Mutation_p.Q2589L|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.Q4677L			Q03001	DYST_HUMAN	dystonin	5001					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATTTCCTTCTGCAGAGACTT	0.398																																																	0													178	178	178					6																	56417955		1848	4103	5951	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15002A>T	6.37:g.56417955T>A	ENSP00000354508:p.Gln5001Leu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q5181L	ENST00000361203.3	37	c.15542		6	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809689	0.50421	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.76	5.76	0.90799	.	0.000000	0.49916	D	0.000121	T	0.40040	0.1101	L	0.42686	1.345	0.27803	N	0.94241	D;D;D;P;B	0.76494	0.987;0.999;0.999;0.956;0.141	D;D;D;P;B	0.85130	0.953;0.997;0.997;0.702;0.091	T	0.12863	-1.0531	9	0.17832	T	0.49	.	16.3634	0.83296	0.0:0.0:0.0:1.0	.	2915;5003;5181;5001;2589	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	2589;5181;5003;2915;4677;2915;5001	ENSP00000244364:Q2589L;ENSP00000359790:Q5181L;ENSP00000359805:Q5003L;ENSP00000400883:Q2915L;ENSP00000393645:Q4677L;ENSP00000359824:Q2915L;ENSP00000354508:Q5001L	ENSP00000244364:Q2589L	Q	-	2	0	DST	56525914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.223000	0.72257	2.324000	0.78689	0.533000	0.62120	CAG	DST	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	54	0	T	NM_001723		56417955	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	6.90	53	4	SNP	1.000	A	A	56417955	T	A	56417955	3	1	46	1	0	0	0	0	1	0	0	0	4797	1580	55	5	7921	5	DST	6	56417955	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	2295796	56417955	114697112	80	11201											
C6orf168	84553	genome.wustl.edu	37	chr6	99729215	99729215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggggtgtgggttttgCtgccttcgctgctctcctca	2	13	14	12	2	2	0	1	0	1	0	4	0	2	0	2	3	4	5	2	3	0	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:99729215C>T	ENST00000389677.5	-	6	1337	c.1055G>A	c.(1054-1056)aGc>aAc	p.S352N	FAXC_ENST00000538471.1_Missense_Mutation_p.S72N|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	352						integral component of membrane (GO:0016021)											GTGGGTTTTGCTGCCTTCGCT	0.483																																																	0													113	108	109					6																	99729215		2203	4300	6503	SO:0001583	missense	0			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 168"	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1055G>A	6.37:g.99729215C>T	ENSP00000374328:p.Ser352Asn		B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.S352N	ENST00000389677.5	37	c.1055	CCDS34500.1	6	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617057	0.66672	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.29	4.4	0.53042	.	0.224329	0.46442	D	0.000296	T	0.40423	0.1116	L	0.44542	1.39	0.45490	D	0.998451	B	0.17667	0.023	B	0.14578	0.011	T	0.34925	-0.9809	9	0.40728	T	0.16	-24.5395	15.6978	0.77515	0.0:0.8627:0.1373:0.0	.	352	Q5TGI0	CF168_HUMAN	N	352;72	.	ENSP00000374328:S352N	S	-	2	0	C6orf168	99835936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.592000	0.61027	1.177000	0.42855	0.655000	0.94253	AGC	FAXC	-	NULL	ENSG00000146267		0.483	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	HGNC	protein_coding	OTTHUMT00000041589.4		0	15	0	C	NM_032511		99729215	-1			no_errors	ENST00000389677	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	99729215	C	T	99729215	3	4	46	1	0	0	0	0	1	0	0	0	2350	797	28	3	178	3	C6orf168	6	99729215	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	43311260	99729215	71385852	81	11202											
KIAA0408	9729	genome.wustl.edu	37	chr6	127770975	127770975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaccagcctaccttctatgGttagaccgctttcgaatttc	8	14	7	12	2	1	1	0	0	1	1	3	2	1	1	4	1	3	3	4	1	5	7			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:127770975G>T	ENST00000483725.3	-	4	906	c.570C>A	c.(568-570)aaC>aaA	p.N190K	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	190										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACCTTCTATGGTTAGACCGCT	0.373																																																	0													119	116	117					6																	127770975		2203	4300	6503	SO:0001583	missense	0			AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.570C>A	6.37:g.127770975G>T	ENSP00000435150:p.Asn190Lys		B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Missense_Mutation	SNP	NULL	p.N190K	ENST00000483725.3	37	c.570	CCDS34531.1	6	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258592	0.59321	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	T;T	0.52057	1.18;0.68	5.71	3.94	0.45596	.	0.368951	0.21653	U	0.071153	T	0.39358	0.1075	L	0.55481	1.735	0.31114	N	0.709612	D	0.59767	0.986	P	0.53035	0.716	T	0.37033	-0.9723	10	0.72032	D	0.01	-6.0735	10.8221	0.46610	0.2068:0.0:0.7932:0.0	.	190	Q6ZU52	K0408_HUMAN	K	190;202	ENSP00000435150:N190K;ENSP00000434384:N202K	ENSP00000435150:N190K	N	-	3	2	KIAA0408	127812668	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	1.372000	0.34261	0.772000	0.33382	0.655000	0.94253	AAC	KIAA0408	-	NULL	ENSG00000189367		0.373	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA0408	HGNC	protein_coding	OTTHUMT00000042145.3	-	0	34	0	G	NM_014702		127770975	-1	tier1	-	no_errors	ENST00000483725	ensembl	human	novel	74_37	missense	7.55	49	4	SNP	0.996	T	T	127770975	G	T	127770975	3	4	46	1	0	0	0	0	1	0	0	0	8201	1252	44	3	1526	3	KIAA0408	6	127770975	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	28041760	127770975	43344092	82	11203											
IFNGR1	3459	genome.wustl.edu	37	chr6	137522074	137522074	+	Frame_Shift_Del	DEL	A	A	-																															tggattaattttcttaatatAaaaacagatgaataccaggc																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr6:137522074delA	ENST00000367739.4	-	6	926	c.805delT	c.(805-807)tatfs	p.Y269fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.Y241fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	269					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TTCTTAATATAAAAACAGATG	0.294																																																	0													36	37	37					6																	137522074		2203	4297	6500	SO:0001589	frameshift_variant	0				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"Interferons", "CD molecules"	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.805delT	6.37:g.137522074delA	ENSP00000356713:p.Tyr269fs		B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.Y269fs	ENST00000367739.4	37	c.805	CCDS5185.1	6																																																																																			IFNGR1	-	pfam_Interferon_gamma_pox/mammal	ENSG00000027697		0.294	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1		0	46	0	A			137522074	-1	tier1		no_errors	ENST00000367739	ensembl	human	known	74_37	frame_shift_del	47.06	27	24	DEL	0.000	-	-	137522074	A	-	137522074	7	5	46	1	0	1	0	1	0	0	0	0	7576	362	13	0	672	0	IFNGR1	6	137522074	Frame_Shift_Del	DEL	A	TCGA-JY-A93F-01A-21D-A37C-09	9751099	137522074	33592993	83	11204											
MUC17	140453	genome.wustl.edu	37	chr7	100676006	100676006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcatctcccacaactGctgaagataccagcattgca	12	8	6	15	0	2	2	1	1	1	1	3	2	2	2	3	0	6	4	3	0	3	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:100676006G>T	ENST00000306151.4	+	3	1373	c.1309G>T	c.(1309-1311)Gct>Tct	p.A437S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	437	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACAACTGCTGAAGATAC	0.493																																																	0													224	230	228					7																	100676006		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1309G>T	7.37:g.100676006G>T	ENSP00000302716:p.Ala437Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A437S	ENST00000306151.4	37	c.1309	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	0.069	-1.206748	0.01568	.	.	ENSG00000169876	ENST00000306151	T	0.02579	4.24	1.22	-2.44	0.06502	.	.	.	.	.	T	0.01454	0.0047	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.47222	-0.9134	9	0.07813	T	0.8	.	4.1516	0.10240	0.0:0.1966:0.2561:0.5473	.	437	Q685J3	MUC17_HUMAN	S	437	ENSP00000302716:A437S	ENSP00000302716:A437S	A	+	1	0	MUC17	100462726	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.164000	0.00576	-2.204000	0.00743	-0.711000	0.03637	GCT	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	49	0	G	NM_001040105		100676006	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	16.00	84	16	SNP	0.000	T	T	100676006	G	T	100676006	3	4	46	1	0	0	0	0	1	0	0	0	10012	1319	46	3	1319	3	MUC17	7	100676006	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		100676006	58462657	84	11205											
CFTR	1080	genome.wustl.edu	37	chr7	117251832	117251832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtcatcttcttcattGctgttaccttcatttccatt	5	23	3	10	0	5	0	3	0	2	0	6	0	6	0	2	0	2	2	2	0	1	9			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:117251832G>T	ENST00000003084.6	+	20	3469	c.3337G>T	c.(3337-3339)Gct>Tct	p.A1113S	CFTR_ENST00000454343.1_Missense_Mutation_p.A1052S|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1113	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTTCTTCATTGCTGTTACCTT	0.333									Cystic Fibrosis																																								0													96	84	88					7																	117251832		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators", "ATP binding cassette transporters / subfamily C"	1884	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family C, member 7"	602421	"cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3337G>T	7.37:g.117251832G>T	ENSP00000003084:p.Ala1113Ser		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.A1113S	ENST00000003084.6	37	c.3337	CCDS5773.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984253|2.984253	0.53827|0.53827	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.91792|.	-2.91;-2.91;-2.91|.	5.38|5.38	3.4|3.4	0.38934|0.38934	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.464948|.	0.25442|.	N|.	0.030651|.	T|T	0.60856|0.60856	0.2301|0.2301	L|L	0.58969|0.58969	1.84|1.84	0.36544|0.36544	D|D	0.871454|0.871454	B|.	0.24317|.	0.101|.	B|.	0.43680|.	0.427|.	T|T	0.65623|0.65623	-0.6123|-0.6123	10|5	0.40728|.	T|.	0.16|.	-4.2848|-4.2848	9.9452|9.9452	0.41604|0.41604	0.0719:0.2634:0.6647:0.0|0.0719:0.2634:0.6647:0.0	.|.	1113|.	P13569|.	CFTR_HUMAN|.	S|F	1113;1052;1083|54	ENSP00000003084:A1113S;ENSP00000403677:A1052S;ENSP00000389119:A1083S|.	ENSP00000003084:A1113S|.	A|L	+|+	1|3	0|2	CFTR|CFTR	117039068|117039068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.564000|4.564000	0.60830|0.60830	1.357000|1.357000	0.45904|0.45904	0.650000|0.650000	0.86243|0.86243	GCT|TTG	CFTR	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	ENSG00000001626		0.333	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	-	0	69	0	G	NM_000492		117251832	1	tier1	-	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	117251832	G	T	117251832	3	4	46	1	0	0	0	0	1	0	0	0	3301	1319	46	3	3415	3	CFTR	7	117251832	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	16575826	117251832	41886831	85	11206											
CPA2	1358	genome.wustl.edu	37	chr7	129906763	129906763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttggtgccctttttggGcatatctactgtctagaaac	7	18	8	8	0	2	1	0	0	2	1	2	1	2	1	1	2	3	1	1	2	4	8			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:129906763G>A	ENST00000222481.4	+	1	97	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	14					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCCTTTTTGGGCATATCTACT	0.418																																																	0													246	222	230					7																	129906763		2203	4300	6503	SO:0001819	synonymous_variant	0			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.42G>A	7.37:g.129906763G>A			A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.G14	ENST00000222481.4	37	c.42	CCDS5817.2	7																																																																																			CPA2	-	NULL	ENSG00000158516		0.418	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA2	HGNC	protein_coding	OTTHUMT00000347124.2	-	0	62	0	G	NM_001869		129906763	1	tier1	-	no_errors	ENST00000222481	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.786	A	A	129906763	G	A	129906763	2	1	46	1	0	0	0	0	0	0	0	1	3797	1190	42	3		3	CPA2	7	129906763	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	12654931	129906763	29231900	86	11207											
KIAA1549	57670	genome.wustl.edu	37	chr7	138603524	138603524	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattaaagaccgggagcttAaaaaaagggtggtttccaca	15	8	11	7	1	0	1	0	0	0	1	1	2	1	2	2	3	1	3	2	3	6	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:138603524A>T	ENST00000422774.1	-	2	896	c.848T>A	c.(847-849)tTa>tAa	p.L283*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.L233*|KIAA1549_ENST00000440172.1_Nonsense_Mutation_p.L283*			Q9HCM3	K1549_HUMAN	KIAA1549	283						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGAGCTTAAAAAAAGGGT	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													34	35	35					7																	138603524		1847	4087	5934	SO:0001587	stop_gained	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.848T>A	7.37:g.138603524A>T	ENSP00000416040:p.Leu283*		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Nonsense_Mutation	SNP	NULL	p.L283*	ENST00000422774.1	37	c.848	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729838	0.48833	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	0.559	-0.678	0.11353	.	0.973510	0.08403	N	0.951049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	.	.	.	.	.	.	.	X	283;233;283	.	ENSP00000242365:L233X	L	-	2	0	KIAA1549	138254064	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.277000	0.08502	-0.347000	0.08299	-0.366000	0.07423	TTA	KIAA1549	-	NULL	ENSG00000122778		0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0	18	0	A			138603524	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	nonsense	39.29	17	11	SNP	0.001	T	T	138603524	A	T	138603524	4	4	46	1	0	0	0	0	0	1	0	0	8271	372	13	5	5080	5	KIAA1549	7	138603524	Nonsense_Mutation	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	8696761	138603524	20535139	87	11208											
MGAM	8972	genome.wustl.edu	37	chr7	141764224	141764224	+	Silent	SNP	T	T	G																															ggcctgagcagcaagaccctTtgtatggagagtcagcagat																								rs538501942	byFrequency	TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:141764224T>G	ENST00000549489.2	+	37	4481	c.4386T>G	c.(4384-4386)ctT>ctG	p.L1462L	MGAM_ENST00000475668.2_Silent_p.L1462L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1462	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCAAGACCCTTTGTATGGAGA	0.562													t|||	8	0.00159744	0.0045	0	5008	,	,		18839	0		0	False		,,,				2504	0.002																0													33	35	34					7																	141764224		1965	4168	6133	SO:0001819	synonymous_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4386T>G	7.37:g.141764224T>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L1462	ENST00000549489.2	37	c.4386	CCDS47727.1	7																																																																																			MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.562	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	61	0	T			141764224	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	silent	43.75	36	28	SNP	1.000	G	G	141764224	T	G	141764224	2	3	46	1	0	0	0	0	0	0	0	1	9579	1828	64	4		4	MGAM	7	141764224	Silent	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	3160700	141764224	17374439	88	11209	41	2									
MGAM	8972	genome.wustl.edu	37	chr7	141764227	141764227	+	Silent	SNP	T	T	C																															ctgagcagcaagaccctttgTatggagagtcagcagatcct																								rs3087317	byFrequency	TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:141764227T>C	ENST00000549489.2	+	37	4484	c.4389T>C	c.(4387-4389)tgT>tgC	p.C1463C	MGAM_ENST00000475668.2_Silent_p.C1463C	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1463	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACCCTTTGTATGGAGAGTC	0.567													N|||	8	0.00159744	0.0045	0	5008	,	,		18881	0		0	False		,,,				2504	0.002																0													33	35	35					7																	141764227		1968	4170	6138	SO:0001819	synonymous_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4389T>C	7.37:g.141764227T>C			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.C1463	ENST00000549489.2	37	c.4389	CCDS47727.1	7																																																																																			MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.567	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	59	0	T			141764227	1	tier1	rs3087317	no_errors	ENST00000549489	ensembl	human	known	74_37	silent	44.62	36	29	SNP	1.000	C	C	141764227	T	C	141764227	2	2	46	1	0	0	0	0	0	0	0	1	9579	1644	57	4		4	MGAM	7	141764227	Silent	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	3	141764227	17374436	89	11210	41	2									
SSPO	23145	genome.wustl.edu	37	chr7	149474801	149474801	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgcctcctggtcgggCttccactaccgcacctttga	5	11	9	16	2	0	1	0	1	0	0	3	1	2	1	6	2	2	2	6	2	1	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:149474801C>A	ENST00000378016.2	+	0	600							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGGTCGGGCTTCCACTACC	0.677																																																	0													18	23	21					7																	149474801		2059	4179	6238			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149474801C>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.677	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	72	0	C			149474801	1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	36.49	45	27	SNP	0.998	A	A	149474801	C	A	149474801	1	1	46	0	1	0	0	0	0	0	0	0	15236	784	28	3		3	SSPO	7	149474801	RNA	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	7710574	149474801	9663862	90	11211											
NUB1	51667	genome.wustl.edu	37	chr7	151065005	151065005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacttacttcaagggatccGaaactatcacagtggaaatg	14	10	8	9	1	2	0	2	0	0	0	3	3	3	2	1	2	3	0	1	2	6	4	rs373576077		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:151065005G>A	ENST00000355851.4	+	10	1123	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	NUB1_ENST00000568733.1_Missense_Mutation_p.R373Q|NUB1_ENST00000566856.1_Missense_Mutation_p.R349Q|NUB1_ENST00000413040.2_Missense_Mutation_p.R373Q	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	349					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R349Q(2)		endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAAGGGATCCGAAACTATCAC	0.323											OREG0018452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	large_intestine(2)						G	GLN/ARG	1,3659		0,1,1829	64	59	61		1046	3.8	0.8	7		61	0,8182		0,0,4091	no	missense	NUB1	NM_016118.4	43	0,1,5920	AA,AG,GG		0.0,0.0273,0.0084	benign	349/602	151065005	1,11841	1830	4091	5921	SO:0001583	missense	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1046G>A	7.37:g.151065005G>A	ENSP00000348110:p.Arg349Gln	1737	O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.R373Q	ENST00000355851.4	37	c.1118		7	.	.	.	.	.	.	.	.	.	.	G	7.323	0.617344	0.14129	2.73E-4	0.0	ENSG00000013374	ENST00000413040;ENST00000355851	T	0.62788	0.0	5.63	3.77	0.43336	UBA-like (1);	0.252750	0.34156	N	0.004213	T	0.46151	0.1378	L	0.36672	1.1	0.21445	N	0.99968	B;B	0.20988	0.03;0.05	B;B	0.09377	0.002;0.004	T	0.30592	-0.9973	10	0.33940	T	0.23	-9.2092	5.9963	0.19495	0.0727:0.1347:0.6531:0.1395	.	349;349	Q9Y5A7;Q9Y5A7-2	NUB1_HUMAN;.	Q	349	ENSP00000348110:R349Q	ENSP00000348110:R349Q	R	+	2	0	NUB1	150695938	1.000000	0.71417	0.776000	0.31678	0.247000	0.25773	4.126000	0.57937	0.684000	0.31448	0.655000	0.94253	CGA	NUB1	-	superfamily_UBA-like	ENSG00000013374		0.323	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		-	0	31	0	G	NM_016118		151065005	1	tier1	-	no_errors	ENST00000568733	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.909	A	A	151065005	G	A	151065005	3	1	46	1	0	0	0	0	1	0	0	0	10753	1058	37	1	1080	1	NUB1	7	151065005	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1590204	151065005	8073658	91	11212											
GALNTL5	168391	genome.wustl.edu	37	chr7	151716773	151716773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtctgaaatatgtcaccTacggaaatattcgcgagcgt	11	11	10	9	4	2	1	1	1	1	0	3	3	2	2	1	2	2	0	1	2	5	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr7:151716773T>C	ENST00000392800.2	+	9	1473	c.1219T>C	c.(1219-1221)Tac>Cac	p.Y407H	GALNTL5_ENST00000431418.2_Missense_Mutation_p.Y407H	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	407					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATATGTCACCTACGGAAATAT	0.408																																																	0													108	105	106					7																	151716773		2203	4300	6503	SO:0001583	missense	0			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1219T>C	7.37:g.151716773T>C	ENSP00000376548:p.Tyr407His		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.Y407H	ENST00000392800.2	37	c.1219	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383634	0.42308	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.59224	0.28;0.28	4.91	4.91	0.64330	.	0.323390	0.22777	N	0.055779	T	0.73249	0.3563	M	0.79343	2.45	0.35932	D	0.832608	D;D	0.76494	0.998;0.999	D;D	0.67231	0.927;0.95	T	0.81470	-0.0918	10	0.87932	D	0	.	10.8533	0.46782	0.0:0.0:0.0:1.0	.	158;407	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	H	407	ENSP00000392582:Y407H;ENSP00000376548:Y407H	ENSP00000376548:Y407H	Y	+	1	0	GALNTL5	151347706	0.961000	0.32948	0.012000	0.15200	0.037000	0.13140	4.458000	0.60095	2.041000	0.60428	0.528000	0.53228	TAC	GALNTL5	-	NULL	ENSG00000106648		0.408	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	-	0	40	0	T	NM_145292		151716773	1	tier1	-	no_errors	ENST00000392800	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.883	C	C	151716773	T	C	151716773	3	2	46	1	0	0	0	0	1	0	0	0	6249	1522	53	4	1249	4	GALNTL5	7	151716773	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	651768	151716773	7421890	92	11213											
BLK	640	genome.wustl.edu	37	chr8	11414253	11414253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctgggtgaggccaacGtgatgaaggctctgcagcac	8	9	13	11	1	2	3	0	3	2	0	2	3	2	3	2	3	3	3	2	3	2	1	rs1042687		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:11414253G>A	ENST00000259089.4	+	9	1451	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.V216M|RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			V -> M (in Ref. 1; CAA83965). {ECO:0000305}.	B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TGAGGCCAACGTGATGAAGGC	0.562													G|||	1	0.000199681	0	0	5008	,	,		18213	0		0	False		,,,				2504	0.001																0								G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	103	82	89		859	0.3	1	8	dbSNP_86	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	BLK	NM_001715.2	21	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	287/506	11414253	3,13003	2203	4300	6503	SO:0001583	missense	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.859G>A	8.37:g.11414253G>A	ENSP00000259089:p.Val287Met		Q16291|Q96IN1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.V287M	ENST00000259089.4	37	c.859	CCDS5982.1	8	.	.	.	.	.	.	.	.	.	.	G	7.121	0.577954	0.13686	4.54E-4	1.16E-4	ENSG00000136573	ENST00000259089;ENST00000427279;ENST00000529894	D;D	0.83591	-1.74;-1.74	3.53	0.343	0.16001	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.482456	0.15014	N	0.285375	T	0.65123	0.2661	N	0.20483	0.58	0.80722	D	1	B	0.21071	0.051	B	0.16289	0.015	T	0.53885	-0.8375	10	0.59425	D	0.04	.	1.8366	0.03141	0.1515:0.3605:0.309:0.1791	rs1042687;rs1042687	287	P51451	BLK_HUMAN	M	287;287;216	ENSP00000259089:V287M;ENSP00000433663:V216M	ENSP00000259089:V287M	V	+	1	0	BLK	11451662	0.090000	0.21635	0.998000	0.56505	0.314000	0.28054	-0.087000	0.11215	-0.045000	0.13468	-0.519000	0.04390	GTG	BLK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000136573		0.562	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1		0	50	0	G			11414253	1			no_errors	ENST00000259089	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	11414253	G	A	11414253	3	1	46	1	0	0	0	0	1	0	0	0	1446	1145	40	1	889	1	BLK	8	11414253	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		11414253	134949769	93	11214											
NRG1	3084	genome.wustl.edu	37	chr8	32621513	32621513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttccaccacaaccccGcgcatgacagtaacagcctc	10	6	6	19	2	0	1	0	1	0	0	3	1	2	1	6	0	3	3	6	0	2	2	rs376858256	byFrequency	TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:32621513G>A	ENST00000405005.3	+	12	1516	c.1516G>A	c.(1516-1518)Gcg>Acg	p.A506T	NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.A456T|NRG1_ENST00000356819.4_Missense_Mutation_p.A511T|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A503T|NRG1_ENST00000287845.5_Missense_Mutation_p.A477T|NRG1_ENST00000539990.1_Missense_Mutation_p.A349T|NRG1_ENST00000338921.4_Missense_Mutation_p.A514T			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCACAACCCCGCGCATGACAG	0.547													G|||	2	0.000399361	8e-04	0	5008	,	,		17909	0		0	False		,,,				2504	0.001																0								G	,,,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	104	82	89		,,,1516,1507,1531,1366,1468,1417	5.8	0.9	8		89	0,8600		0,0,4300	no	utr-3,utr-3,utr-3,missense,missense,missense,missense,missense,missense	NRG1	NM_001159996.1,NM_001160004.1,NM_013960.3,NM_013964.3,NM_013957.3,NM_013956.3,NM_001160001.1,NM_001159999.1,NM_001159995.1	,,,58,58,58,58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,benign,benign,benign,benign,benign,benign	,,,506/641,503/638,511/646,456/591,490/625,473/608	32621513	1,13005	2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1516G>A	8.37:g.32621513G>A	ENSP00000384620:p.Ala506Thr		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.A514T	ENST00000405005.3	37	c.1540	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	G	4.025	0.002079	0.07819	2.27E-4	0.0	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.75	5.75	0.90469	Neuregulin 1-related, C-terminal (1);	0.245097	0.39210	N	0.001424	T	0.36608	0.0973	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B	0.24426	0.056;0.01;0.03;0.001;0.103;0.073;0.024	B;B;B;B;B;B;B	0.19666	0.016;0.015;0.026;0.001;0.015;0.026;0.015	T	0.33111	-0.9881	10	0.49607	T	0.09	-11.3637	15.12	0.72434	0.0696:0.0:0.9304:0.0	.	349;477;511;514;503;506;511	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	T	473;456;579;514;511;506;477;503;506;349	ENSP00000430053:A473T;ENSP00000429582:A456T;ENSP00000429067:A579T;ENSP00000343395:A514T;ENSP00000349275:A511T;ENSP00000287840:A506T;ENSP00000287845:A477T;ENSP00000287842:A503T;ENSP00000384620:A506T;ENSP00000439276:A349T	ENSP00000287840:A506T	A	+	1	0	NRG1	32741055	0.570000	0.26651	0.924000	0.36721	0.016000	0.09150	2.157000	0.42320	2.724000	0.93272	0.455000	0.32223	GCG	NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	45	0	G			32621513	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	24.44	68	22	SNP	0.039	A	A	32621513	G	A	32621513	3	1	46	1	0	0	0	0	1	0	0	0	10686	1087	38	1	3287	1	NRG1	8	32621513	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	21207260	32621513	113742509	94	11215											
PRKDC	5591	genome.wustl.edu	37	chr8	48773474	48773474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctacctgaatccccatttGctgcttctctggcttctttc	4	17	5	15	0	2	1	0	1	2	0	6	1	4	1	4	1	3	3	4	1	2	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:48773474G>T	ENST00000314191.2	-	46	6097	c.6041C>A	c.(6040-6042)gCa>gAa	p.A2014E	PRKDC_ENST00000338368.3_Missense_Mutation_p.A2014E|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2015					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATCCCCATTTGCTGCTTCTCT	0.313								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													111	105	107					8																	48773474		1814	4072	5886	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6041C>A	8.37:g.48773474G>T	ENSP00000313420:p.Ala2014Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A2014E	ENST00000314191.2	37	c.6041		8	.	.	.	.	.	.	.	.	.	.	G	1.518	-0.547691	0.04024	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.32753	1.44;1.44	6.02	3.27	0.37495	NUC194 (1);Armadillo-type fold (1);	0.672121	0.15885	N	0.239849	T	0.21962	0.0529	L	0.35414	1.06	0.09310	N	1	B;B	0.17038	0.02;0.005	B;B	0.17433	0.018;0.018	T	0.17715	-1.0360	10	0.54805	T	0.06	.	6.6744	0.23085	0.1964:0.271:0.5326:0.0	.	2014;2015	E7EUY0;P78527	.;PRKDC_HUMAN	E	2014	ENSP00000313420:A2014E;ENSP00000345182:A2014E	ENSP00000313420:A2014E	A	-	2	0	PRKDC	48936027	0.018000	0.18449	0.334000	0.25495	0.456000	0.32438	0.780000	0.26760	0.878000	0.35920	0.650000	0.86243	GCA	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.313	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	43	0	G	NM_001081640		48773474	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.187	T	T	48773474	G	T	48773474	3	4	46	1	0	0	0	0	1	0	0	0	12563	1319	46	3	6510	3	PRKDC	8	48773474	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	16151961	48773474	97590548	95	11216											
SNAI2	6591	genome.wustl.edu	37	chr8	49831433	49831433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acattctggagaaggttttgGagcagtttttgcactggtat	9	15	12	5	0	1	1	0	0	1	1	1	3	1	2	0	4	2	5	0	4	2	6	rs376627182		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:49831433G>A	ENST00000396822.1	-	4	1097	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SNAI2_ENST00000020945.1_Missense_Mutation_p.S247F			O43623	SNAI2_HUMAN	snail family zinc finger 2	247					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAAGGTTTTGGAGCAGTTTTT	0.463																																																	0													174	158	163					8																	49831433		2203	4300	6503	SO:0001583	missense	0			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.740C>T	8.37:g.49831433G>A	ENSP00000380034:p.Ser247Phe		B2R6P6|Q53FC1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S247F	ENST00000396822.1	37	c.740	CCDS6146.1	8	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113656	0.77210	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.71103	-0.54;-0.54	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	L	0.58428	1.81	0.80722	D	1	B	0.25206	0.12	B	0.27608	0.081	T	0.70128	-0.4957	10	0.62326	D	0.03	-16.1642	18.7761	0.91912	0.0:0.0:1.0:0.0	.	247	O43623	SNAI2_HUMAN	F	247	ENSP00000020945:S247F;ENSP00000380034:S247F	ENSP00000020945:S247F	S	-	2	0	SNAI2	49993986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.430000	0.82344	0.650000	0.86243	TCC	SNAI2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000019549		0.463	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI2	HGNC	protein_coding	OTTHUMT00000313873.2	-	0	85	0	G	NM_003068		49831433	-1	tier1	-	no_errors	ENST00000020945	ensembl	human	known	74_37	missense	27.87	88	34	SNP	1.000	A	A	49831433	G	A	49831433	3	1	46	1	0	0	0	0	1	0	0	0	14872	1174	41	3	70	3	SNAI2	8	49831433	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1057959	49831433	96532589	96	11217											
KCNB2	9312	genome.wustl.edu	37	chr8	73480515	73480515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaaactgtgggacttGctggagaaacctaactcatc	14	8	11	8	0	1	2	1	0	0	2	2	5	1	4	1	3	4	1	1	3	4	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:73480515G>T	ENST00000523207.1	+	2	1134	c.546G>T	c.(544-546)ttG>ttT	p.L182F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	182					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGTGGGACTTGCTGGAGAAAC	0.468																																																	0													82	88	86					8																	73480515		2201	4300	6501	SO:0001583	missense	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.546G>T	8.37:g.73480515G>T	ENSP00000430846:p.Leu182Phe		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.L182F	ENST00000523207.1	37	c.546	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332263	0.41297	.	.	ENSG00000182674	ENST00000523207	D	0.97888	-4.59	5.77	4.89	0.63831	.	0.430727	0.14357	U	0.324710	D	0.96620	0.8897	M	0.72479	2.2	0.49798	D	0.999822	B	0.23854	0.092	B	0.30105	0.111	D	0.95228	0.8340	10	0.62326	D	0.03	.	9.4993	0.39008	0.0715:0.0:0.7844:0.1441	.	182	Q92953	KCNB2_HUMAN	F	182	ENSP00000430846:L182F	ENSP00000430846:L182F	L	+	3	2	KCNB2	73643069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.946000	0.49050	1.541000	0.49316	0.655000	0.94253	TTG	KCNB2	-	prints_K_chnl_volt-dep_Kv2	ENSG00000182674		0.468	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	-	0	39	0	G	NM_004770		73480515	1	tier1	-	no_errors	ENST00000523207	ensembl	human	known	74_37	missense	27.03	54	20	SNP	1.000	T	T	73480515	G	T	73480515	3	4	46	1	0	0	0	0	1	0	0	0	8040	1310	46	3	548	3	KCNB2	8	73480515	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	23649082	73480515	72883507	97	11218											
IL7	3574	genome.wustl.edu	37	chr8	79710313	79710313	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaataatcacataccaataaTtgatcgatgctgaccattag	17	11	5	8	1	1	2	1	2	0	0	2	3	1	2	2	0	2	1	2	0	6	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:79710313T>C	ENST00000263851.4	-	2	741	c.141A>G	c.(139-141)caA>caG	p.Q47Q	IL7_ENST00000379113.2_Silent_p.Q47Q|IL7_ENST00000520269.1_Silent_p.Q47Q	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	47					bone resorption (GO:0045453)|cell-cell signaling (GO:0007267)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|organ morphogenesis (GO:0009887)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell differentiation (GO:0045582)|regulation of gene expression (GO:0010468)|T cell lineage commitment (GO:0002360)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|interleukin-7 receptor binding (GO:0005139)			endometrium(2)|large_intestine(2)|lung(1)	5						ATACCAATAATTGATCGATGC	0.338																																																	0													137	126	130					8																	79710313		2203	4300	6503	SO:0001819	synonymous_variant	0			J04156	CCDS6224.1, CCDS56541.1, CCDS75755.1, CCDS75756.1	8q12-q13	2008-07-03				ENSG00000104432		"Interleukins and interleukin receptors"	6023	protein-coding gene	gene with protein product		146660					Standard	NM_000880		Approved	IL-7	uc003ybg.3	P13232		ENST00000263851.4:c.141A>G	8.37:g.79710313T>C			A0N0L3|Q5FBY5|Q5FBY9	Silent	SNP	pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7	p.Q47	ENST00000263851.4	37	c.141	CCDS6224.1	8																																																																																			IL7	-	pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7	ENSG00000104432		0.338	IL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL7	HGNC	protein_coding	OTTHUMT00000379429.1	-	0	22	0	T			79710313	-1	tier1	-	no_errors	ENST00000263851	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.005	C	C	79710313	T	C	79710313	2	2	46	1	0	0	0	0	0	0	0	1	7731	1490	52	4		4	IL7	8	79710313	Silent	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	6229798	79710313	66653709	98	11219											
PMP2	5375	genome.wustl.edu	37	chr8	82359617	82359617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcccaggaatttgttgCtcatcgtgatgggtgagagc	8	11	15	7	1	1	2	1	2	0	1	2	4	1	3	1	3	3	2	1	3	1	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:82359617C>T	ENST00000256103.2	-	1	141	c.5G>A	c.(4-6)aGc>aAc	p.S2N	PMP2_ENST00000519260.1_Missense_Mutation_p.S2N|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	2					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GAATTTGTTGCTCATCGTGAT	0.423																																																	0													105	101	102					8																	82359617		2203	4300	6503	SO:0001583	missense	0			X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"Fatty acid binding protein family"	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.5G>A	8.37:g.82359617C>T	ENSP00000256103:p.Ser2Asn		Q6FHL4	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.S2N	ENST00000256103.2	37	c.5	CCDS6229.1	8	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710718	0.30322	.	.	ENSG00000147588	ENST00000256103;ENST00000519260	T;T	0.42513	2.74;0.97	5.98	3.95	0.45737	.	0.275476	0.40554	N	0.001077	T	0.28134	0.0694	N	0.24115	0.695	0.21147	N	0.999772	B	0.15473	0.013	B	0.15870	0.014	T	0.23904	-1.0175	10	0.87932	D	0	.	8.4025	0.32594	0.0:0.757:0.146:0.097	.	2	P02689	MYP2_HUMAN	N	2	ENSP00000256103:S2N;ENSP00000429917:S2N	ENSP00000256103:S2N	S	-	2	0	PMP2	82522172	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.390000	0.44416	0.662000	0.31006	0.650000	0.86243	AGC	PMP2	-	NULL	ENSG00000147588		0.423	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP2	HGNC	protein_coding	OTTHUMT00000379365.1	-	0	47	0	C	NM_002677		82359617	-1	tier1	-	no_errors	ENST00000256103	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	82359617	C	T	82359617	3	4	46	1	0	0	0	0	1	0	0	0	12177	797	28	3	409	3	PMP2	8	82359617	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	2649304	82359617	64004405	99	11220											
NBN	4683	genome.wustl.edu	37	chr8	90949256	90949256	+	Frame_Shift_Del	DEL	A	A	-																															aggtgaatcaaactttacctAaaaagatcatcagcaagaga																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:90949256delA	ENST00000265433.3	-	15	2386	c.2232delT	c.(2230-2232)tttfs	p.F744fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.F662fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	744					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AACTTTACCTAAAAAGATCAT	0.294								Homologous recombination																																									0													100	98	98					8																	90949256		2203	4300	6503	SO:0001589	frameshift_variant	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2232delT	8.37:g.90949256delA	ENSP00000265433:p.Phe744fs		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Frame_Shift_Del	DEL	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.F744fs	ENST00000265433.3	37	c.2232	CCDS6249.1	8																																																																																			NBN	-	pfam_DNA-repair_Nbs1_C,pirsf_Nibrin_met	ENSG00000104320		0.294	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3		0	39	0	A	NM_001024688		90949256	-1	tier1		no_errors	ENST00000265433	ensembl	human	known	74_37	frame_shift_del	15.52	49	9	DEL	1.000	-	-	90949256	A	-	90949256	7	5	46	1	0	1	0	1	0	0	0	0	10229	359	13	0	40	0	NBN	8	90949256	Frame_Shift_Del	DEL	A	TCGA-JY-A93F-01A-21D-A37C-09	8589639	90949256	55414766	100	11221											
SLC25A32	81034	genome.wustl.edu	37	chr8	104427088	104427088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccgctcacgcccgctatCaggttctcataccggacgtg	6	8	10	17	6	3	0	3	0	1	0	4	1	3	1	4	2	1	3	4	2	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:104427088C>T	ENST00000297578.4	-	1	244	c.78G>A	c.(76-78)ctG>ctA	p.L26L	DCAF13_ENST00000297579.5_5'UTR|DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	26					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CGCCCGCTATCAGGTTCTCAT	0.677																																																	0													24	27	26					8																	104427088		2203	4300	6503	SO:0001819	synonymous_variant	0			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.78G>A	8.37:g.104427088C>T			Q96JZ6|Q96SU7	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.L26	ENST00000297578.4	37	c.78	CCDS6300.1	8																																																																																			SLC25A32	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000164933		0.677	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A32	HGNC	protein_coding	OTTHUMT00000380290.2	-	0	59	0	C	NM_030780		104427088	-1	tier1	-	no_errors	ENST00000297578	ensembl	human	known	74_37	silent	22.09	67	19	SNP	1.000	T	T	104427088	C	T	104427088	2	4	46	1	0	0	0	0	0	0	0	1	14541	813	29	3		3	SLC25A32	8	104427088	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	13477832	104427088	41936934	101	11222											
LRP12	29967	genome.wustl.edu	37	chr8	105509702	105509702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaatccccttgcagcatTcactttatcagcacaaaaat	15	12	3	11	0	2	0	2	0	0	0	3	0	3	0	2	0	3	3	2	0	5	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:105509702T>C	ENST00000276654.5	-	5	1186	c.1078A>G	c.(1078-1080)Aat>Gat	p.N360D	LRP12_ENST00000424843.2_Missense_Mutation_p.N341D|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	360	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCAGCATTCACTTTATCA	0.433																																																	0													98	98	98					8																	105509702		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1078A>G	8.37:g.105509702T>C	ENSP00000276654:p.Asn360Asp		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.N341D	ENST00000276654.5	37	c.1021	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	T	19.95	3.922180	0.73213	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.29142	1.58;1.58	5.9	5.9	0.94986	CUB (5);	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.28115	0.83	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	T	0.09530	-1.0670	10	0.05959	T	0.93	-29.7919	16.3264	0.82983	0.0:0.0:0.0:1.0	.	341;360	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	D	341;360	ENSP00000399148:N341D;ENSP00000276654:N360D	ENSP00000276654:N360D	N	-	1	0	LRP12	105578878	1.000000	0.71417	0.795000	0.32087	0.974000	0.67602	7.466000	0.80914	2.259000	0.74868	0.374000	0.22700	AAT	LRP12	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000147650		0.433	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	33	0	T	NM_013437		105509702	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	C	C	105509702	T	C	105509702	3	2	46	1	0	0	0	0	1	0	0	0	8989	1783	62	4	1513	4	LRP12	8	105509702	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	1082614	105509702	40854320	102	11223											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110493751	110493751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatcatactacacaagactgGgctcttccagaaggaccaaa	16	7	7	11	0	2	2	1	0	1	2	3	3	3	3	2	2	2	1	2	2	6	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:110493751G>T	ENST00000378402.5	+	56	9521	c.9417G>T	c.(9415-9417)tgG>tgT	p.W3139C		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3139	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACAAGACTGGGCTCTTCCAG	0.388										HNSCC(38;0.096)																																							0													69	68	68					8																	110493751		1829	4083	5912	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9417G>T	8.37:g.110493751G>T	ENSP00000367655:p.Trp3139Cys		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.W3139C	ENST00000378402.5	37	c.9417	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037766	0.75617	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.89123	-2.47;-2.47	5.77	5.77	0.91146	G8 domain (2);	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.72118	2.19	0.58432	D	0.999999	D	0.62365	0.991	D	0.69142	0.962	D	0.93990	0.7266	10	0.72032	D	0.01	.	17.4723	0.87649	0.0:0.0:1.0:0.0	.	3139	Q86WI1	PKHL1_HUMAN	C	3139;67	ENSP00000367655:W3139C;ENSP00000437376:W67C	ENSP00000367655:W3139C	W	+	3	0	PKHD1L1	110562927	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.166000	0.77553	2.724000	0.93272	0.650000	0.86243	TGG	PKHD1L1	-	pfam_G8_domain	ENSG00000205038		0.388	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	61	0	G	NM_177531		110493751	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	110493751	G	T	110493751	3	4	46	1	0	0	0	0	1	0	0	0	12011	1241	43	3	9639	3	PKHD1L1	8	110493751	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	4984049	110493751	35870271	103	11224											
BAI1	575	genome.wustl.edu	37	chr8	143623556	143623556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccaagtcctccttcgtcGgtgacggggacatcttcaag	7	9	11	14	4	2	1	1	1	1	0	6	2	4	2	3	3	0	0	3	3	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:143623556G>A	ENST00000517894.1	+	28	4855	c.3961G>A	c.(3961-3963)Ggt>Agt	p.G1321S	BAI1_ENST00000323289.5_Missense_Mutation_p.G1321S			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1321					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1321S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCTTCGTCGGTGACGGGGA	0.667																																																	1	Substitution - Missense(1)	endometrium(1)											58	65	63					8																	143623556		2024	4168	6192	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3961G>A	8.37:g.143623556G>A	ENSP00000430945:p.Gly1321Ser			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.G1321S	ENST00000517894.1	37	c.3961		8	.	.	.	.	.	.	.	.	.	.	g	12.03	1.815154	0.32053	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.27720	1.65;1.65	4.26	3.27	0.37495	.	0.205025	0.42053	U	0.000780	T	0.09069	0.0224	N	0.03608	-0.345	0.26608	N	0.972884	P	0.48640	0.913	B	0.34038	0.174	T	0.16394	-1.0404	10	0.12103	T	0.63	.	8.8736	0.35332	0.0:0.0:0.5215:0.4784	.	1321	E9PBK0	.	S	1321	ENSP00000430945:G1321S;ENSP00000313046:G1321S	ENSP00000313046:G1321S	G	+	1	0	BAI1	143620558	1.000000	0.71417	0.246000	0.24233	0.721000	0.41392	5.009000	0.63998	1.910000	0.55303	0.586000	0.80456	GGT	BAI1	-	NULL	ENSG00000181790		0.667	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0	72	0	G	NM_001702		143623556	1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	28.91	91	37	SNP	0.991	A	A	143623556	G	A	143623556	3	1	46	1	0	0	0	0	1	0	0	0	1299	1116	39	1	4067	1	BAI1	8	143623556	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	33129805	143623556	2740466	104	11225											
ZFP41	286128	genome.wustl.edu	37	chr8	144332542	144332542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacgaatgcacgcactgtGggaaagcctttgcctacagc	10	8	10	13	2	0	0	0	0	0	0	0	2	0	1	3	1	6	2	3	1	4	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr8:144332542G>T	ENST00000330701.4	+	2	898	c.529G>T	c.(529-531)Ggg>Tgg	p.G177W	ZFP41_ENST00000522452.1_Missense_Mutation_p.G177W|ZFP41_ENST00000520584.1_Missense_Mutation_p.G177W	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	177					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CACGCACTGTGGGAAAGCCTT	0.607																																																	0													75	84	81					8																	144332542		2203	4300	6503	SO:0001583	missense	0				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"Zinc fingers, C2H2-type"	26786	protein-coding gene	gene with protein product			"zinc finger protein 41 homolog (mouse)"			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.529G>T	8.37:g.144332542G>T	ENSP00000327427:p.Gly177Trp		D3DWJ5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G177W	ENST00000330701.4	37	c.529	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500688	0.44455	.	.	ENSG00000181638	ENST00000520584;ENST00000330701;ENST00000522452	T;T;T	0.01051	5.4;5.4;5.4	3.38	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09335	0.0230	H	0.95114	3.625	0.36373	D	0.861403	D	0.89917	1.0	D	0.91635	0.999	T	0.02519	-1.1147	9	0.87932	D	0	-16.3403	8.9369	0.35706	0.116:0.0:0.884:0.0	.	177	Q8N8Y5	ZFP41_HUMAN	W	177	ENSP00000430465:G177W;ENSP00000327427:G177W;ENSP00000428966:G177W	ENSP00000327427:G177W	G	+	1	0	ZFP41	144403917	0.982000	0.34865	0.311000	0.25182	0.380000	0.30137	2.125000	0.42016	0.741000	0.32674	0.467000	0.42956	GGG	ZFP41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181638		0.607	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZFP41	HGNC	protein_coding	OTTHUMT00000381114.2		0	44	0	G	NM_173832		144332542	1			no_errors	ENST00000330701	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	144332542	G	T	144332542	3	4	46	1	0	0	0	0	1	0	0	0	17697	1348	47	3	531	3	ZFP41	8	144332542	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	708986	144332542	2031480	105	11226											
KIF24	347240	genome.wustl.edu	37	chr9	34306372	34306372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcatgcccagggggcGttttcgaacacaaactctga	9	9	9	14	2	2	1	1	1	1	0	4	2	3	1	2	2	3	1	2	2	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr9:34306372G>T	ENST00000402558.2	-	2	715	c.691C>A	c.(691-693)Cgc>Agc	p.R231S	KIF24_ENST00000379166.2_Missense_Mutation_p.R231S|KIF24_ENST00000379174.3_Missense_Mutation_p.R231S|KIF24_ENST00000345050.2_Missense_Mutation_p.R231S			Q5T7B8	KIF24_HUMAN	kinesin family member 24	231	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCAGGGGGCGTTTTCGAACA	0.378																																																	0													185	177	179					9																	34306372		1815	4081	5896	SO:0001583	missense	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"Kinesins", "Sterile alpha motif (SAM) domain containing"	19916	protein-coding gene	gene with protein product		613747	"chromosome 9 open reading frame 48"	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.691C>A	9.37:g.34306372G>T	ENSP00000384433:p.Arg231Ser		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R231S	ENST00000402558.2	37	c.691	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803251	0.90623	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	D;T;D;T	0.85088	-1.94;1.32;-1.94;1.32	5.74	5.74	0.90152	Kinesin, motor domain (4);	0.000000	0.43110	D	0.000614	D	0.96065	0.8718	H	0.98883	4.36	0.31773	N	0.631851	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95902	0.8916	10	0.51188	T	0.08	.	19.9179	0.97070	0.0:0.0:1.0:0.0	.	231;231	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	S	231	ENSP00000384433:R231S;ENSP00000368472:R231S;ENSP00000368464:R231S;ENSP00000340179:R231S	ENSP00000340179:R231S	R	-	1	0	KIF24	34296372	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.033000	0.76504	2.723000	0.93209	0.655000	0.94253	CGC	KIF24	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000186638		0.378	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5		0	28	0	G			34306372	-1			no_errors	ENST00000379166	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	34306372	G	T	34306372	3	4	46	1	0	0	0	0	1	0	0	0	8319	1145	40	2	3459	2	KIF24	9	34306372	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		34306372	106907059	106	11227											
C9orf100	84904	genome.wustl.edu	37	chr9	35662990	35662990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagcagagcctggacaCgccgaaggtgctggtcattc	9	7	13	12	2	1	2	1	1	0	1	2	4	1	3	2	3	3	2	2	3	1	1	rs147148814		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr9:35662990C>T	ENST00000378387.3	-	6	743	c.626G>A	c.(625-627)cGt>cAt	p.R209H	ARHGEF39_ENST00000490970.1_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R173H|ARHGEF39_ENST00000343259.3_Intron	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	209					positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										AGCCTGGACACGCCGAAGGTG	0.522																																																	0								C	HIS/ARG	0,4406		0,0,2203	83	70	74		626	4.9	0.9	9	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf100	NM_032818.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	209/336	35662990	1,13005	2203	4300	6503	SO:0001583	missense	0			AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 100"	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.626G>A	9.37:g.35662990C>T	ENSP00000367638:p.Arg209His		Q49AG0|Q6TPQ2|Q96ST6	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R209H	ENST00000378387.3	37	c.626	CCDS6584.2	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943768	0.73672	0.0	1.16E-4	ENSG00000137135	ENST00000378387;ENST00000378395	T;T	0.30182	1.54;1.54	5.83	4.93	0.64822	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.45745	-0.9240	10	0.34782	T	0.22	-17.8897	10.7632	0.46277	0.0:0.9126:0.0:0.0874	.	209	Q8N4T4	CI100_HUMAN	H	209;173	ENSP00000367638:R209H;ENSP00000367648:R173H	ENSP00000367638:R209H	R	-	2	0	C9orf100	35652990	0.966000	0.33281	0.876000	0.34364	0.941000	0.58515	4.642000	0.61383	1.451000	0.47736	0.650000	0.86243	CGT	ARHGEF39	-	superfamily_DH-domain	ENSG00000137135		0.522	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF39	HGNC	protein_coding	OTTHUMT00000052330.1	-	0	44	0	C	NM_032818		35662990	-1	tier1	rs147148814	no_errors	ENST00000378387	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.423	T	T	35662990	C	T	35662990	3	4	46	1	0	0	0	0	1	0	0	0	2451	536	19	1	397	1	C9orf100	9	35662990	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	1356618	35662990	105550441	107	11228											
ALDH1B1	219	genome.wustl.edu	37	chr9	38396960	38396960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctactgtctttggtggCgtgcaggatgacatgagaat	10	11	13	7	1	1	2	0	2	1	1	1	4	1	3	1	3	3	1	1	3	3	2	rs535405575		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr9:38396960C>T	ENST00000377698.3	+	2	1368	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	405					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.G405G(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		TCTTTGGTGGCGTGCAGGATG	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)											109	88	95					9																	38396960		2203	4300	6503	SO:0001819	synonymous_variant	0			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.1215C>T	9.37:g.38396960C>T			B2R8F0|Q8WX76|Q9BV45	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.G405	ENST00000377698.3	37	c.1215	CCDS6615.1	9																																																																																			ALDH1B1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000137124		0.542	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1		0	48	0	C			38396960	1			no_errors	ENST00000377698	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.000	T	T	38396960	C	T	38396960	2	4	46	1	0	0	0	0	0	0	0	1	493	755	27	1		1	ALDH1B1	9	38396960	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	2733970	38396960	102816471	108	11229											
C9orf71	169693	genome.wustl.edu	37	chr9	71155464	71155464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtacctgtctactgtGgccacgggcagggccccatg	7	7	13	14	2	1	0	0	0	1	0	1	0	1	0	4	3	3	3	4	3	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr9:71155464G>A	ENST00000377311.3	-	1	319	c.267C>T	c.(265-267)gcC>gcT	p.A89A	RP11-274B18.2_ENST00000432148.1_lincRNA|RP11-274B18.4_ENST00000413269.3_lincRNA	NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	89						integral component of membrane (GO:0016021)											TGTCTACTGTGGCCACGGGCA	0.532																																																	0													66	60	62					9																	71155464		2203	4300	6503	SO:0001819	synonymous_variant	0			BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 71"	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.267C>T	9.37:g.71155464G>A				Silent	SNP	NULL	p.A89	ENST00000377311.3	37	c.267	CCDS35040.1	9																																																																																			TMEM252	-	NULL	ENSG00000181778		0.532	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM252	HGNC	protein_coding	OTTHUMT00000052551.1	-	0	21	0	G	NM_153237		71155464	-1	tier1	-	no_errors	ENST00000377311	ensembl	human	known	74_37	silent	33.33	14	7	SNP	0.150	A	A	71155464	G	A	71155464	2	1	46	1	0	0	0	0	0	0	0	1	2501	1335	47	3		3	C9orf71	9	71155464	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	32758504	71155464	70057967	109	11230											
PTPN3	5774	genome.wustl.edu	37	chr9	112225697	112225697	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaattcttccacccaacgcAcgtaaccgggaggtcataac	12	9	7	13	3	2	0	1	0	1	0	3	1	3	1	3	2	3	2	3	2	4	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr9:112225697A>T	ENST00000374541.2	-	2	122	c.18T>A	c.(16-18)cgT>cgA	p.R6R	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	6					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACCCAACGCACGTAACCGGG	0.408																																																	0													112	111	111					9																	112225697		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.18T>A	9.37:g.112225697A>T			A0AUW9|E7EN99|E9PGU7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R6	ENST00000374541.2	37	c.18	CCDS6776.1	9																																																																																			PTPN3	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4	ENSG00000070159		0.408	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	-	0	58	0	A			112225697	-1	tier1	-	no_errors	ENST00000374541	ensembl	human	known	74_37	silent	7.27	51	4	SNP	1.000	T	T	112225697	A	T	112225697	2	4	46	1	0	0	0	0	0	0	0	1	12834	146	6	5		5	PTPN3	9	112225697	Silent	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	41070233	112225697	28987734	110	11231											
C9orf9	11092	genome.wustl.edu	37	chr9	135763819	135763819	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgccgcgcaaggtgctgCagcacgtgagtgagccccag	8	6	15	12	3	0	2	0	2	0	0	0	2	0	2	3	1	5	5	3	1	1	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr9:135763819C>T	ENST00000372136.3	+	4	937	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	C9orf9_ENST00000350499.6_Nonsense_Mutation_p.Q164*|C9orf9_ENST00000356311.5_Nonsense_Mutation_p.Q164*			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	164						cytoplasmic microtubule (GO:0005881)		p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		CAAGGTGCTGCAGCACGTGAG	0.632																																																	1	Unknown(1)	bone(1)											51	40	44					9																	135763819		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6955.1	9q34.13	2012-03-06			ENSG00000165698	ENSG00000165698			1367	protein-coding gene	gene with protein product							Standard	NM_018956		Approved		uc004cby.1	Q96E40	OTTHUMG00000020847	ENST00000372136.3:c.490C>T	9.37:g.135763819C>T	ENSP00000361209:p.Gln164*		Q9UGQ0	Nonsense_Mutation	SNP	NULL	p.Q164*	ENST00000372136.3	37	c.490		9	.	.	.	.	.	.	.	.	.	.	C	32	5.149945	0.94645	.	.	ENSG00000165698	ENST00000372136;ENST00000356311;ENST00000350499	.	.	.	5.23	5.23	0.72850	.	0.325164	0.31167	N	0.008130	.	.	.	.	.	.	0.33999	D	0.650016	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-21.3144	11.8704	0.52517	0.0:0.9146:0.0:0.0854	.	.	.	.	X	164	.	ENSP00000298546:Q164X	Q	+	1	0	C9orf9	134753640	0.938000	0.31826	0.994000	0.49952	0.067000	0.16453	0.695000	0.25527	2.425000	0.82216	0.561000	0.74099	CAG	C9orf9	-	NULL	ENSG00000165698		0.632	C9orf9-001	KNOWN	basic	protein_coding	C9orf9	HGNC	protein_coding	OTTHUMT00000054806.1	-	0	63	0	C	NM_018956		135763819	1	tier1	-	no_errors	ENST00000356311	ensembl	human	known	74_37	nonsense	26.51	61	22	SNP	0.797	T	T	135763819	C	T	135763819	4	4	46	1	0	0	0	0	0	1	0	0	2511	711	25	3	500	3	C9orf9	9	135763819	Nonsense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	23538122	135763819	5449612	111	11232											
GDI2	2665	genome.wustl.edu	37	chr10	5808472	5808472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttctgttcaattggtTccaagagctccaaagctggt	9	13	8	11	0	3	1	2	0	1	1	5	1	5	1	2	2	2	4	2	2	3	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr10:5808472T>C	ENST00000380191.4	-	9	1411	c.1121A>G	c.(1120-1122)gAa>gGa	p.E374G	GDI2_ENST00000380132.4_Missense_Mutation_p.E378G|GDI2_ENST00000380181.3_Missense_Mutation_p.E329G|GDI2_ENST00000479928.1_5'UTR	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	374					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|Rab GDP-dissociation inhibitor activity (GO:0005093)|Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TTCAATTGGTTCCAAGAGCTC	0.463																																																	0													122	114	116					10																	5808472		2203	4300	6503	SO:0001583	missense	0			D13988	CCDS7071.1, CCDS44352.1	10p15	2010-03-16			ENSG00000057608	ENSG00000057608			4227	protein-coding gene	gene with protein product	"rab GDP-dissociation"	600767				9434952	Standard	NM_001494		Approved	RABGDIB	uc001iil.4	P50395	OTTHUMG00000017607	ENST00000380191.4:c.1121A>G	10.37:g.5808472T>C	ENSP00000369538:p.Glu374Gly		O43928|Q5SX88|Q9UQM6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.E378G	ENST00000380191.4	37	c.1133	CCDS7071.1	10	.	.	.	.	.	.	.	.	.	.	T	2.411	-0.335431	0.05278	.	.	ENSG00000057608	ENST00000380191;ENST00000380132;ENST00000380181	D;D;D	0.84442	-1.85;-1.85;-1.85	5.83	5.83	0.93111	.	0.187516	0.56097	D	0.000027	T	0.68449	0.3002	N	0.05230	-0.09	0.58432	D	0.999996	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.65915	-0.6052	10	0.02654	T	1	-12.0258	15.862	0.79032	0.0:0.0:0.0:1.0	.	378;329;374	E7EU23;Q5SX88;P50395	.;.;GDIB_HUMAN	G	374;378;329	ENSP00000369538:E374G;ENSP00000369475:E378G;ENSP00000369528:E329G	ENSP00000369475:E378G	E	-	2	0	GDI2	5848478	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.005000	0.63972	2.227000	0.72691	0.528000	0.53228	GAA	GDI2	-	pfam_GDP_dissociation_inhibitor	ENSG00000057608		0.463	GDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI2	HGNC	protein_coding	OTTHUMT00000046580.1	-	0	51	0	T	NM_001494		5808472	-1	tier1	-	no_errors	ENST00000380132	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	C	C	5808472	T	C	5808472	3	2	46	1	0	0	0	0	1	0	0	0	6347	1783	62	4	228	4	GDI2	10	5808472	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09		5808472	129726275	112	11233											
PTEN	5728	genome.wustl.edu	37	chr10	89717619	89717619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaccatgcagatcctcagtTtgtggtctgccagctaaagg	10	11	10	10	0	2	1	1	0	1	1	3	1	3	1	3	2	4	3	3	2	3	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr10:89717619T>G	ENST00000371953.3	+	7	2001	c.644T>G	c.(643-645)tTt>tGt	p.F215C	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	215	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F215S(1)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GATCCTCAGTTTGTGGTCTGC	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	51	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(1)|Complex - frameshift(1)|Unknown(1)|Substitution - Missense(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)											115	102	106					10																	89717619		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.644T>G	10.37:g.89717619T>G	ENSP00000361021:p.Phe215Cys		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.F215C	ENST00000371953.3	37	c.644	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665163	0.67700	.	.	ENSG00000171862	ENST00000371953	D	0.85861	-2.04	5.67	5.67	0.87782	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.092454	0.85682	D	0.000000	D	0.90270	0.6957	L	0.60845	1.875	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.89864	0.4018	9	.	.	.	-7.8627	15.9118	0.79477	0.0:0.0:0.0:1.0	.	215	P60484	PTEN_HUMAN	C	215	ENSP00000361021:F215C	.	F	+	2	0	PTEN	89707599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.661000	0.83786	2.162000	0.67917	0.477000	0.44152	TTT	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	0	71	0	T	NM_000314		89717619	1	tier1	-	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	36.14	53	30	SNP	1.000	G	G	89717619	T	G	89717619	3	3	46	1	0	0	0	0	1	0	0	0	12780	1841	64	4	670	4	PTEN	10	89717619	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	83909147	89717619	45817128	113	11234											
BLNK	29760	genome.wustl.edu	37	chr10	97960771	97960771	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaattagatgaaaagctGggtaggggcccatccacagt	12	8	14	7	0	0	2	0	1	0	1	1	3	1	3	2	4	1	2	2	4	5	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr10:97960771G>T	ENST00000224337.5	-	14	1119	c.978C>A	c.(976-978)ccC>ccA	p.P326P	BLNK_ENST00000371176.2_Silent_p.P303P|BLNK_ENST00000427367.2_Silent_p.P326P|BLNK_ENST00000413476.2_Silent_p.P326P	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	326					B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATGAAAAGCTGGGTAGGGGCC	0.398																																																	0													124	136	132					10																	97960771		2203	4300	6503	SO:0001819	synonymous_variant	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.978C>A	10.37:g.97960771G>T			O75498|O75499|Q2MD49	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.P326	ENST00000224337.5	37	c.978	CCDS7446.1	10																																																																																			BLNK	-	NULL	ENSG00000095585		0.398	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0	30	0	G	NM_013314		97960771	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.005	T	T	97960771	G	T	97960771	2	4	46	1	0	0	0	0	0	0	0	1	1449	1335	47	3		3	BLNK	10	97960771	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	8243152	97960771	37573976	114	11235											
PDZD7	79955	genome.wustl.edu	37	chr10	102789899	102789899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctaggtggcctcgggaGgagagggagctcagagagcc	8	5	18	10	1	1	2	1	0	0	2	2	6	1	4	3	5	3	1	3	5	1	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr10:102789899G>A	ENST00000370215.3	-	2	303	c.78C>T	c.(76-78)tcC>tcT	p.S26S	PDZD7_ENST00000470414.1_Silent_p.S26S|SFXN3_ENST00000224807.5_5'Flank|SFXN3_ENST00000393459.1_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	26						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGCCTCGGGAGGAGAGGGAGC	0.677																																																	0													41	44	43					10																	102789899		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.78C>T	10.37:g.102789899G>A			D5FJ77|Q8N321	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S26	ENST00000370215.3	37	c.78	CCDS31269.1	10																																																																																			PDZD7	-	NULL	ENSG00000186862		0.677	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	-	0	111	0	G	NM_024895		102789899	-1	tier1	-	no_errors	ENST00000370215	ensembl	human	known	74_37	silent	37.04	68	40	SNP	1.000	A	A	102789899	G	A	102789899	2	1	46	1	0	0	0	0	0	0	0	1	11743	987	35	3		3	PDZD7	10	102789899	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	4829128	102789899	32744848	115	11236											
NHLRC2	374354	genome.wustl.edu	37	chr10	115668044	115668044	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgatttttaggcaatGaatggctacttcaaggacag	12	15	9	5	0	1	2	1	2	0	0	1	3	1	3	0	3	1	2	0	3	5	7			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr10:115668044G>T	ENST00000369301.3	+	11	2142	c.1930G>T	c.(1930-1932)Gaa>Taa	p.E644*		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	644										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTTAGGCAATGAATGGCTACT	0.328																																																	0													72	69	70					10																	115668044		2203	4300	6503	SO:0001587	stop_gained	0			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1930G>T	10.37:g.115668044G>T	ENSP00000358307:p.Glu644*		Q8N1H1|Q8N5A6	Nonsense_Mutation	SNP	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.E644*	ENST00000369301.3	37	c.1930	CCDS7585.1	10	.	.	.	.	.	.	.	.	.	.	G	40	8.049437	0.98629	.	.	ENSG00000196865	ENST00000369301	.	.	.	5.77	5.77	0.91146	.	0.118209	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-31.6857	11.8806	0.52574	0.0861:0.0:0.9139:0.0	.	.	.	.	X	644	.	ENSP00000358307:E644X	E	+	1	0	NHLRC2	115658034	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.716000	0.68437	2.735000	0.93741	0.655000	0.94253	GAA	NHLRC2	-	NULL	ENSG00000196865		0.328	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	HGNC	protein_coding	OTTHUMT00000050446.1		0	31	0	G	NM_198514		115668044	1			no_errors	ENST00000369301	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T	T	115668044	G	T	115668044	4	4	46	1	0	0	0	0	0	1	0	0	10445	1291	45	3	1972	3	NHLRC2	10	115668044	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	12878145	115668044	19866703	116	11237											
GPR26	2849	genome.wustl.edu	37	chr10	125426291	125426291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgcgcctccgcgacgCggcgctcatggtggcctaca	7	6	13	15	6	1	1	1	0	0	1	2	2	2	1	3	3	2	1	3	3	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr10:125426291C>T	ENST00000284674.1	+	1	421	c.368C>T	c.(367-369)gCg>gTg	p.A123V		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	123					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCGCGACGCGGCGCTCATG	0.701																																																	0													10	11	10					10																	125426291		2185	4277	6462	SO:0001583	missense	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"GPCR / Class A : Orphans"	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.368C>T	10.37:g.125426291C>T	ENSP00000284674:p.Ala123Val		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A123V	ENST00000284674.1	37	c.368	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.203812	0.95033	.	.	ENSG00000154478	ENST00000284674	T	0.40225	1.04	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.63497	-0.6624	10	0.34782	T	0.22	-22.085	16.5501	0.84470	0.0:1.0:0.0:0.0	.	123	Q8NDV2	GPR26_HUMAN	V	123	ENSP00000284674:A123V	ENSP00000284674:A123V	A	+	2	0	GPR26	125416281	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.537000	0.82033	2.125000	0.65367	0.655000	0.94253	GCG	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000154478		0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1	-	0	13	0	C			125426291	1	tier1	-	no_errors	ENST00000284674	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	T	T	125426291	C	T	125426291	3	4	46	1	0	0	0	0	1	0	0	0	6710	768	27	1	370	1	GPR26	10	125426291	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	9758247	125426291	10108456	117	11238											
ATHL1	80162	genome.wustl.edu	37	chr11	293646	293646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggatacccagtccccttCtccctgagtcctgatgttcg	5	12	9	15	1	1	2	0	2	1	0	5	3	3	3	5	1	1	1	5	1	1	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:293646C>T	ENST00000409548.2	+	10	1648	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ATHL1_ENST00000409655.1_Intron|ATHL1_ENST00000409479.1_Silent_p.F538F	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	511					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGTCCCCTTCTCCCTGAGTC	0.612																																																	0													80	86	84					11																	293646		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1533C>T	11.37:g.293646C>T			Q658X8|Q8TEG9|Q9H635	Silent	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.F511	ENST00000409548.2	37	c.1533	CCDS31322.2	11																																																																																			ATHL1	-	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	ENSG00000142102		0.612	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	-	0	26	0	C	NM_025092		293646	1	tier1	-	no_errors	ENST00000409548	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.994	T	T	293646	C	T	293646	2	4	46	1	0	0	0	0	0	0	0	1	1105	912	32	3		3	ATHL1	11	293646	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		293646	134712870	118	11239											
MUC2	4583	genome.wustl.edu	37	chr11	1096386	1096386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacggactctactacagctaCcagggcaactgcacctacgt	11	7	9	14	2	1	0	0	0	1	0	1	2	1	1	2	2	7	3	2	2	5	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:1096386C>T	ENST00000441003.2	+	34	6438	c.6411C>T	c.(6409-6411)taC>taT	p.Y2137Y	MUC2_ENST00000361558.6_Silent_p.Y275Y	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4499					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACTACAGCTACCAGGGCAACT	0.612																																																	0													83	92	89					11																	1096386		2170	4271	6441	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6411C>T	11.37:g.1096386C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Y2137	ENST00000441003.2	37	c.6411		11																																																																																			MUC2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000198788		0.612	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2		0	37	0	C	NM_002457		1096386	1			no_errors	ENST00000441003	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.997	T	T	1096386	C	T	1096386	2	4	46	1	0	0	0	0	0	0	0	1	10013	518	18	3		3	MUC2	11	1096386	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	802740	1096386	133910130	119	11240											
TPP1	8642	genome.wustl.edu	37	chr11	6640117	6640117	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcctcagggtccgcaCggcccagggacacccagcct	6	6	11	18	2	2	0	1	0	1	0	4	1	4	1	5	3	1	2	5	3	0	1	rs549309216		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:6640117C>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000534644.1_Intron|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000299427.6_Missense_Mutation_p.R40H|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000533371.1_De_novo_Start_OutOfFrame	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTCCGCACGGCCCAGGGA	0.587													C|||	1	0.000199681	0	0	5008	,	,		20661	0.001		0	False		,,,				2504	0																0													60	60	60					11																	6640117		2201	4296	6497	SO:0001628	intergenic_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640117C>T			O15098	Missense_Mutation	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.R40H	ENST00000299441.3	37	c.119	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178886	0.78564	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.72167	-0.63;-0.63	5.64	4.72	0.59763	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.057570	0.64402	D	0.000001	T	0.74741	0.3756	M	0.77712	2.385	0.80722	D	1	D;P	0.58970	0.984;0.649	P;B	0.46758	0.526;0.043	T	0.77659	-0.2505	10	0.49607	T	0.09	-18.6436	13.6352	0.62219	0.0:0.8447:0.1553:0.0	.	40;40	B4DEQ3;O14773	.;TPP1_HUMAN	H	40	ENSP00000299427:R40H;ENSP00000398136:R40H	ENSP00000299427:R40H	R	-	2	0	TPP1	6596693	0.402000	0.25311	0.984000	0.44739	0.991000	0.79684	0.912000	0.28597	1.360000	0.45960	0.462000	0.41574	CGT	TPP1	-	pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	ENSG00000166340		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257258.1		0	26	0	C	NM_003737		6640117	-1			no_errors	ENST00000299427	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	6640117	C	T	6640117	1	4	46	0	1	0	0	0	0	0	0	0	16459	536	19	1		1	TPP1	11	6640117	IGR	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	5543731	6640117	128366399	120	11241											
DCHS1	8642	genome.wustl.edu	37	chr11	6645094	6645094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgtcacacggtaggatgCtcgggtaaagacaggtgggt	10	9	15	7	2	1	1	1	0	0	1	2	2	1	2	0	5	2	3	0	5	4	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:6645094C>T	ENST00000299441.3	-	21	8224	c.7813G>A	c.(7813-7815)Gca>Aca	p.A2605T	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2605	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTAGGATGCTCGGGTAAAG	0.587																																																	0													209	185	193					11																	6645094		2201	4296	6497	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7813G>A	11.37:g.6645094C>T	ENSP00000299441:p.Ala2605Thr		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A2605T	ENST00000299441.3	37	c.7813	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479408	0.26511	.	.	ENSG00000166341	ENST00000299441	T	0.37584	1.19	5.13	2.1	0.27182	Cadherin (2);Cadherin-like (1);	0.160012	0.29565	N	0.011792	T	0.19087	0.0458	L	0.28344	0.845	0.27399	N	0.954905	B	0.09022	0.002	B	0.06405	0.002	T	0.17410	-1.0370	10	0.13108	T	0.6	.	5.4642	0.16634	0.1215:0.5809:0.2145:0.0831	.	2605	Q96JQ0	PCD16_HUMAN	T	2605	ENSP00000299441:A2605T	ENSP00000299441:A2605T	A	-	1	0	DCHS1	6601670	0.059000	0.20769	0.945000	0.38365	0.992000	0.81027	0.486000	0.22340	0.743000	0.32719	0.650000	0.86243	GCA	DCHS1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	-	0	42	0	C	NM_003737		6645094	-1	tier1	-	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.323	T	T	6645094	C	T	6645094	3	4	46	1	0	0	0	0	1	0	0	0	4296	797	28	3	2087	3	DCHS1	11	6645094	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	4977	6645094	128361422	121	11242											
OR6A2	8590	genome.wustl.edu	37	chr11	6816277	6816277	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaatggccacataggaGgccccagtgacagagagtgg	12	5	14	10	0	0	2	0	1	0	1	0	4	0	3	4	4	0	1	4	4	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:6816277G>T	ENST00000332601.3	-	1	851	c.663C>A	c.(661-663)gcC>gcA	p.A221A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	221					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCACATAGGAGGCCCCAGTGA	0.493																																																	0													98	104	102					11																	6816277		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.663C>A	11.37:g.6816277G>T			Q3MJC7|Q6IF35|Q9H206	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A221	ENST00000332601.3	37	c.663	CCDS7772.1	11																																																																																			OR6A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184933		0.493	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	HGNC	protein_coding	OTTHUMT00000385981.1	-	0	20	0	G	NM_003696		6816277	-1	tier1	-	no_errors	ENST00000332601	ensembl	human	known	74_37	silent	34.78	15	8	SNP	0.050	T	T	6816277	G	T	6816277	2	4	46	1	0	0	0	0	0	0	0	1	11225	987	35	3		3	OR6A2	11	6816277	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	171183	6816277	128190239	122	11243											
COPB1	1315	genome.wustl.edu	37	chr11	14498481	14498481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacctctccaagggacctgCggatctcagtcatcacactc	10	9	7	15	1	4	0	3	0	2	0	7	2	4	2	3	2	2	0	3	2	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:14498481C>T	ENST00000249923.3	-	12	1739	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000526191.1_5'Flank|COPB1_ENST00000439561.2_Missense_Mutation_p.R480H	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	480					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAGGGACCTGCGGATCTCAGT	0.373																																																	0													162	150	154					11																	14498481		2200	4294	6494	SO:0001583	missense	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1439G>A	11.37:g.14498481C>T	ENSP00000249923:p.Arg480His		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.R480H	ENST00000249923.3	37	c.1439	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.466331	0.96257	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.26223	1.75;1.75;1.75	5.63	5.63	0.86233	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.91196	3.185	0.80722	D	1	D	0.63880	0.993	P	0.62885	0.908	T	0.65940	-0.6046	10	0.48119	T	0.1	-2.7546	19.6772	0.95941	0.0:1.0:0.0:0.0	.	480	P53618	COPB_HUMAN	H	480	ENSP00000249923:R480H;ENSP00000397873:R480H;ENSP00000436383:R480H	ENSP00000249923:R480H	R	-	2	0	COPB1	14455057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.656000	0.90262	0.655000	0.94253	CGC	COPB1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	ENSG00000129083		0.373	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0	27	0	C	NM_016451		14498481	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	14498481	C	T	14498481	3	4	46	1	0	0	0	0	1	0	0	0	3735	768	27	1	1466	1	COPB1	11	14498481	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	7682204	14498481	120508035	123	11244											
LRRC4C	57689	genome.wustl.edu	37	chr11	40137317	40137317	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattcccctaagtctagtcGgcgcaaagaaggaattctgt	12	10	9	10	2	2	1	0	0	2	1	4	2	3	2	2	2	0	1	2	2	6	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:40137317G>A	ENST00000278198.2	-	2	2489	c.526C>T	c.(526-528)Cga>Tga	p.R176*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R176*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	176					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGTCTAGTCGGCGCAAAGAA	0.423																																																	0													92	91	91					11																	40137317		2203	4300	6503	SO:0001587	stop_gained	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.526C>T	11.37:g.40137317G>A	ENSP00000278198:p.Arg176*		A8K0T1|Q7L0N3	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R176*	ENST00000278198.2	37	c.526	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	G	38	7.162653	0.98107	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	.	.	.	5.82	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8889	0.52618	0.0:0.0:0.694:0.306	.	.	.	.	X	176	.	ENSP00000278198:R176X	R	-	1	2	LRRC4C	40093893	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.985000	0.40668	2.754000	0.94517	0.650000	0.86243	CGA	LRRC4C	-	NULL	ENSG00000148948		0.423	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	30	0	G	NM_020929		40137317	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	nonsense	33.33	26	13	SNP	1.000	A	A	40137317	G	A	40137317	4	1	46	1	0	0	0	0	0	1	0	0	9043	1124	39	1	1400	1	LRRC4C	11	40137317	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	25638836	40137317	94869199	124	11245											
ACCS	84680	genome.wustl.edu	37	chr11	44089274	44089274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagccatggggaagatctgGaaggagaatgctccagaaaa	15	6	14	6	0	1	3	0	0	1	3	2	6	2	5	2	4	2	2	2	4	6	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:44089274G>A	ENST00000263776.8	+	2	531	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	ACCS_ENST00000432284.2_Missense_Mutation_p.E33K|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	33					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGAAGATCTGGAAGGAGAATG	0.572																																					Esophageal Squamous(158;148 1889 8077 23160 41213)												0													84	85	85					11																	44089274		2203	4300	6503	SO:0001583	missense	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.97G>A	11.37:g.44089274G>A	ENSP00000263776:p.Glu33Lys		B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.E33K	ENST00000263776.8	37	c.97	CCDS7907.1	11	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412855	0.25465	.	.	ENSG00000110455	ENST00000524990;ENST00000263776;ENST00000432284;ENST00000533404	T;T;T;T	0.60424	1.02;0.19;1.02;0.74	5.27	0.9	0.19278	.	1.013140	0.07889	N	0.970830	T	0.44582	0.1300	L	0.57536	1.79	0.09310	N	1	P;B	0.39022	0.655;0.085	B;B	0.35039	0.194;0.026	T	0.29088	-1.0023	10	0.20519	T	0.43	-1.9716	1.9359	0.03337	0.1724:0.3129:0.3638:0.1508	.	33;33	B4E219;Q96QU6	.;1A1L1_HUMAN	K	33	ENSP00000434156:E33K;ENSP00000263776:E33K;ENSP00000391775:E33K;ENSP00000435919:E33K	ENSP00000263776:E33K	E	+	1	0	ACCS	44045850	0.168000	0.22989	0.040000	0.18447	0.358000	0.29455	1.427000	0.34881	0.290000	0.22444	-0.165000	0.13383	GAA	ACCS	-	NULL	ENSG00000110455		0.572	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	-	0	58	0	G	NM_032592		44089274	1	tier1	-	no_errors	ENST00000263776	ensembl	human	known	74_37	missense	27.87	43	17	SNP	0.004	A	A	44089274	G	A	44089274	3	1	46	1	0	0	0	0	1	0	0	0	133	1175	41	3	99	3	ACCS	11	44089274	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	3951957	44089274	90917242	125	11246											
NUP160	23279	genome.wustl.edu	37	chr11	47801978	47801978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtatggaagccacaccattgGggctgttgcggacagtggaa	10	8	15	8	1	0	0	0	0	0	0	0	3	0	3	2	5	2	3	2	5	3	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:47801978G>A	ENST00000378460.2	-	35	4184	c.4138C>T	c.(4138-4140)Cca>Tca	p.P1380S	NUP160_ENST00000530326.1_Intron	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1380					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CACACCATTGGGGCTGTTGCG	0.448																																																	0													86	83	84					11																	47801978		2201	4298	6499	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.4138C>T	11.37:g.47801978G>A	ENSP00000367721:p.Pro1380Ser		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.P1380S	ENST00000378460.2	37	c.4138	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733938	0.48939	.	.	ENSG00000030066	ENST00000378460	T	0.30448	1.53	5.79	5.79	0.91817	.	0.380280	0.33290	N	0.005073	T	0.25680	0.0625	L	0.40543	1.245	0.80722	D	1	B	0.25719	0.132	B	0.22152	0.038	T	0.11446	-1.0587	10	0.02654	T	1	.	19.6761	0.95934	0.0:0.0:1.0:0.0	.	1380	Q12769	NU160_HUMAN	S	1380	ENSP00000367721:P1380S	ENSP00000367721:P1380S	P	-	1	0	NUP160	47758554	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.444000	0.60001	2.744000	0.94065	0.585000	0.79938	CCA	NUP160	-	NULL	ENSG00000030066		0.448	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2		0	46	0	G	NM_015231		47801978	-1			no_errors	ENST00000378460	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.953	A	A	47801978	G	A	47801978	3	1	46	1	0	0	0	0	1	0	0	0	10796	1232	43	3	180	3	NUP160	11	47801978	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	3712704	47801978	87204538	126	11247											
OR4S1	256148	genome.wustl.edu	37	chr11	48328641	48328641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatctatacactaaggaaCaacgatgtgaaaaatgccat	17	10	7	7	1	1	2	0	2	1	0	1	4	1	3	1	1	4	0	1	1	7	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:48328641C>T	ENST00000319988.1	+	1	867	c.867C>T	c.(865-867)aaC>aaT	p.N289N		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CACTAAGGAACAACGATGTGA	0.453																																																	0													95	87	90					11																	48328641		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"GPCR / Class A : Olfactory receptors"	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.867C>T	11.37:g.48328641C>T			Q6IFB4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N289	ENST00000319988.1	37	c.867	CCDS31488.1	11																																																																																			OR4S1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000176555		0.453	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	-	0	26	0	C	NM_001004725		48328641	1	tier1	-	no_errors	ENST00000319988	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.010	T	T	48328641	C	T	48328641	2	4	46	1	0	0	0	0	0	0	0	1	11121	477	17	3		3	OR4S1	11	48328641	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	526663	48328641	86677875	127	11248											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73021802	73021802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacaccaggtgccctcCgccgacgacgcaaagtccca	9	4	8	20	4	0	0	0	0	0	0	3	2	3	0	6	1	1	1	6	1	1	0	rs369681028		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:73021802C>T	ENST00000263674.3	+	1	2469	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	707	Poly-Arg.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGGTGCCCTCCGCCGACGACG	0.647																																																	0								C	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	36	35	35		2119	4.4	1	11		35	0,8586		0,0,4293	no	missense	ARHGEF17	NM_014786.3	180	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	707/2064	73021802	1,12985	2200	4293	6493	SO:0001583	missense	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2119C>T	11.37:g.73021802C>T	ENSP00000263674:p.Arg707Cys		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.R707C	ENST00000263674.3	37	c.2119	CCDS8221.1	11	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184879	0.57909	2.27E-4	0.0	ENSG00000110237	ENST00000263674	T	0.73681	-0.77	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000009	T	0.79429	0.4444	L	0.29908	0.895	0.54753	D	0.999985	D	0.89917	1.0	D	0.83275	0.996	T	0.82448	-0.0452	10	0.87932	D	0	-11.9428	15.7554	0.78018	0.0:1.0:0.0:0.0	.	707	Q96PE2	ARHGH_HUMAN	C	707	ENSP00000263674:R707C	ENSP00000263674:R707C	R	+	1	0	ARHGEF17	72699450	1.000000	0.71417	0.995000	0.50966	0.397000	0.30659	5.498000	0.66931	2.277000	0.76020	0.561000	0.74099	CGC	ARHGEF17	-	NULL	ENSG00000110237		0.647	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	-	0	43	0	C	NM_014786		73021802	1	tier1	-	no_errors	ENST00000263674	ensembl	human	known	74_37	missense	48.21	29	27	SNP	1.000	T	T	73021802	C	T	73021802	3	4	46	1	0	0	0	0	1	0	0	0	900	652	23	1	2121	1	ARHGEF17	11	73021802	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	24693161	73021802	61984714	128	11249											
XRRA1	143570	genome.wustl.edu	37	chr11	74559456	74559456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggttgtcgtcatgcgcgGgtgatggagcaccagaggct	6	10	16	9	3	1	2	1	1	0	1	2	3	1	3	1	4	2	3	1	4	0	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:74559456G>A	ENST00000340360.6	-	15	1739	c.1408C>T	c.(1408-1410)Ccg>Tcg	p.P470S	RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000321448.8_Missense_Mutation_p.P195S|XRRA1_ENST00000527087.1_Missense_Mutation_p.P383S	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GTCATGCGCGGGTGATGGAGC	0.517																																																	0													52	55	54					11																	74559456		2040	4172	6212	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1408C>T	11.37:g.74559456G>A	ENSP00000339918:p.Pro470Ser			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P470S	ENST00000340360.6	37	c.1408	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858938	0.51376	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.54866	0.57;1.39;0.55	4.75	2.88	0.33553	.	0.685306	0.14270	N	0.330232	T	0.61689	0.2367	L	0.59436	1.845	0.09310	N	1	D;D;D;D;D;D;P	0.76494	0.993;0.999;0.989;0.999;0.989;0.989;0.867	P;D;P;D;P;P;B	0.71414	0.834;0.961;0.836;0.973;0.773;0.773;0.445	T	0.47275	-0.9130	10	0.27082	T	0.32	0.1239	6.5764	0.22569	0.21:0.0:0.79:0.0	.	470;72;26;383;414;80;456	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	S	470;195;456;414;383	ENSP00000339918:P470S;ENSP00000319303:P195S;ENSP00000435838:P383S	ENSP00000319303:P195S	P	-	1	0	XRRA1	74237104	0.023000	0.18921	0.002000	0.10522	0.019000	0.09904	2.405000	0.44548	1.353000	0.45828	-0.218000	0.12543	CCG	XRRA1	-	NULL	ENSG00000166435		0.517	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0	29	0	G	NM_182969		74559456	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.001	A	A	74559456	G	A	74559456	3	1	46	1	0	0	0	0	1	0	0	0	17510	1232	43	3	990	3	XRRA1	11	74559456	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1537654	74559456	60447060	129	11250											
MLL	4297	genome.wustl.edu	37	chr11	118343016	118343017	+	Frame_Shift_Ins	INS	-	-	G																															ctcttacagagggcaaaaaaINSgggggctcaaaagaaaattg																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:118343016_118343017insG	ENST00000389506.5	+	3	1142_1143	c.1142_1143insG	c.(1141-1146)aaggggfs	p.KG381fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.KG381fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.KG381fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	381					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGGGCAAAAAAGGGGGCTCAAA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1147dupG	11.37:g.118343021_118343021dupG	ENSP00000374157:p.Lys381fs		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.A383fs	ENST00000389506.5	37	c.1142_1143	CCDS31686.1	11																																																																																			KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.426	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2		0	27	0	-	NM_005933		118343017	1	tier1		no_errors	ENST00000389506	ensembl	human	known	74_37	frame_shift_ins	27.27	16	6	INS	1.000:1.000	G	G	118343017	-	G	118343016	7	5	46	1	0	1	1	0	0	0	0	0	9658	72	3	0	1152	0	MLL	11	118343016	Frame_Shift_Ins	INS	-	TCGA-JY-A93F-01A-21D-A37C-09	43783560	118343016	16663500	130	11251											
MLL	4297	genome.wustl.edu	37	chr11	118348808	118348808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggacgtcgatcgaggcGgtgtgggcagtgtcccggct	7	7	18	9	5	0	0	0	0	0	0	3	4	1	1	1	5	0	2	1	5	1	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:118348808G>A	ENST00000389506.5	+	5	3461	c.3461G>A	c.(3460-3462)cGg>cAg	p.R1154Q	KMT2A_ENST00000534358.1_Missense_Mutation_p.R1154Q|KMT2A_ENST00000354520.4_Missense_Mutation_p.R1154Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1154					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CGATCGAGGCGGTGTGGGCAG	0.507																																																	0													179	178	178					11																	118348808		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3461G>A	11.37:g.118348808G>A	ENSP00000374157:p.Arg1154Gln		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R1154Q	ENST00000389506.5	37	c.3461	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968262	0.92855	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000533790	D;T;D;D	0.86769	-2.13;0.65;-2.13;-2.17	6.06	6.06	0.98353	Zinc finger, CXXC-type (2);	0.000000	0.85682	D	0.000000	D	0.94221	0.8145	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.93910	0.7196	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1154;1154	E9PQG7;Q03164	.;MLL1_HUMAN	Q	1154;1187;1154;1154;64;232	ENSP00000436786:R1154Q;ENSP00000432391:R1187Q;ENSP00000374157:R1154Q;ENSP00000346516:R1154Q	ENSP00000346516:R1154Q	R	+	2	0	MLL	117854018	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.807000	0.99171	2.882000	0.98803	0.655000	0.94253	CGG	KMT2A	-	pfam_Znf_CXXC,pirsf_MeTrfase_trithorax,pfscan_Znf_CXXC	ENSG00000118058		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	62	0	G	NM_005933		118348808	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	A	A	118348808	G	A	118348808	3	1	46	1	0	0	0	0	1	0	0	0	9658	1116	39	1	3479	1	MLL	11	118348808	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	5792	118348808	16657708	131	11252											
HYOU1	10525	genome.wustl.edu	37	chr11	118925330	118925330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcagcacagctcggCgctcggcctggttgaagaag	8	6	14	13	3	0	2	0	1	0	1	2	2	0	2	2	3	4	5	2	3	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:118925330C>T	ENST00000404233.3	-	7	678	c.554G>A	c.(553-555)cGc>cAc	p.R185H	HYOU1_ENST00000543287.1_Missense_Mutation_p.R98H|HYOU1_ENST00000525859.1_Missense_Mutation_p.R185H|HYOU1_ENST00000529972.1_Missense_Mutation_p.R185H	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	185					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CACAGCTCGGCGCTCGGCCTG	0.587																																																	0													67	61	63					11																	118925330		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.554G>A	11.37:g.118925330C>T	ENSP00000384144:p.Arg185His		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R185H	ENST00000404233.3	37	c.554	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.488260	0.96323	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	H	0.96015	3.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.51926	-0.8643	10	0.87932	D	0	-10.0695	18.7741	0.91902	0.0:1.0:0.0:0.0	.	176;229;185;185	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	H	185;176;185;185;34;185;228;98;185	ENSP00000384144:R185H;ENSP00000437313:R185H;ENSP00000433397:R185H;ENSP00000442727:R98H;ENSP00000431874:R185H	ENSP00000278752:R176H	R	-	2	0	HYOU1	118430540	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.417000	0.80156	2.430000	0.82344	0.557000	0.71058	CGC	HYOU1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	ENSG00000149428		0.587	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0	35	0	C	NM_006389		118925330	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	118925330	C	T	118925330	3	4	46	1	0	0	0	0	1	0	0	0	7497	768	27	1	2525	1	HYOU1	11	118925330	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	576522	118925330	16081186	132	11253											
VWA5A	4013	genome.wustl.edu	37	chr11	123989240	123989240	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actaaggtcatcttttatagGgtcgtctaaggacagttgcc	10	13	10	8	1	3	0	1	0	2	0	4	1	3	1	1	3	1	1	1	3	4	6			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr11:123989240G>T	ENST00000456829.2	+	6	721	c.470G>T	c.(469-471)gGg>gTg	p.G157V	VWA5A_ENST00000360334.4_Splice_Site_p.G157V|VWA5A_ENST00000392744.4_Splice_Site_p.G173V|VWA5A_ENST00000392748.1_Splice_Site_p.G157V|VWA5A_ENST00000449321.1_Splice_Site_p.G157V|VWA5A_ENST00000361352.5_Splice_Site_p.G157V	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	157										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTTTTATAGGGTCGTCTAAG	0.443																																																	0													150	151	151					11																	123989240		2201	4299	6500	SO:0001630	splice_region_variant	0			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.470-1G>T	11.37:g.123989240G>T			Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G157V	ENST00000456829.2	37	c.470	CCDS8444.1	11	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634887	0.29068	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.25085	3.63;1.82;3.63;2.16;2.16;2.15	5.52	1.17	0.20885	.	0.424262	0.26948	N	0.021700	T	0.25306	0.0615	L	0.59436	1.845	0.33215	D	0.553921	P;P	0.49090	0.749;0.919	B;P	0.47075	0.339;0.536	T	0.31024	-0.9958	9	.	.	.	.	4.3517	0.11158	0.2845:0.0:0.548:0.1675	.	173;157	B4DHS6;O00534	.;VMA5A_HUMAN	V	157;157;157;157;157;157;157;173	ENSP00000407726:G157V;ENSP00000353485:G157V;ENSP00000376504:G157V;ENSP00000355070:G157V;ENSP00000404683:G157V;ENSP00000376501:G173V	.	G	+	2	0	VWA5A	123494450	0.419000	0.25449	0.018000	0.16275	0.001000	0.01503	0.701000	0.25616	0.356000	0.24157	-0.188000	0.12872	GGG	VWA5A	-	NULL	ENSG00000110002		0.443	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1		0	21	0	G	NM_014622	Missense_Mutation	123989240	1			no_errors	ENST00000392748	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.029	T	T	123989240	G	T	123989240	5	4	46	1	0	0	0	0	0	0	1	0	17291	1246	43	3	484	3	VWA5A	11	123989240	Splice_Site	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	5063910	123989240	11017276	133	11254											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21370110	21370110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaacagaaattactcaGcccatttgggtgaatgccca	13	9	8	11	0	1	3	1	1	0	2	2	3	2	3	3	1	4	0	3	1	4	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:21370110G>T	ENST00000256958.2	+	12	1651	c.1555G>T	c.(1555-1557)Gcc>Tcc	p.A519S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	519					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AAATTACTCAGCCCATTTGGG	0.358																																																	0													130	130	130					12																	21370110		2203	4300	6503	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1555G>T	12.37:g.21370110G>T	ENSP00000256958:p.Ala519Ser		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.A519S	ENST00000256958.2	37	c.1555	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540508	0.65085	.	.	ENSG00000134538	ENST00000256958	T	0.39056	1.1	3.84	2.86	0.33363	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.359243	0.30492	N	0.009505	T	0.65657	0.2712	M	0.90759	3.145	0.18873	N	0.999985	D	0.71674	0.998	D	0.74674	0.984	T	0.58132	-0.7690	10	0.66056	D	0.02	.	8.4824	0.33052	0.126:0.0:0.874:0.0	.	519	Q9Y6L6	SO1B1_HUMAN	S	519	ENSP00000256958:A519S	ENSP00000256958:A519S	A	+	1	0	SLCO1B1	21261377	0.684000	0.27642	0.003000	0.11579	0.640000	0.38277	4.921000	0.63397	0.594000	0.29761	0.491000	0.48974	GCC	SLCO1B1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	-	0	71	0	G	NM_006446		21370110	1	tier1	-	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	22.89	64	19	SNP	0.316	T	T	21370110	G	T	21370110	3	4	46	1	0	0	0	0	1	0	0	0	14768	971	34	3	1597	3	SLCO1B1	12	21370110	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		21370110	112481785	134	11255											
COL2A1	1280	genome.wustl.edu	37	chr12	48367925	48367925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctattgccctctgcccGgatctccacgtcattggagc	5	11	9	16	2	3	0	1	0	2	0	4	2	3	2	4	2	4	1	4	2	1	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:48367925G>A	ENST00000380518.3	-	53	4428	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	COL2A1_ENST00000337299.6_Missense_Mutation_p.R1353W|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1422	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCCTCTGCCCGGATCTCCACG	0.587																																																	0													107	91	96					12																	48367925		2203	4300	6503	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4264C>T	12.37:g.48367925G>A	ENSP00000369889:p.Arg1422Trp		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.R1422W	ENST00000380518.3	37	c.4264	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906460	0.52333	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	T;T	0.74002	-0.8;-0.8	5.06	4.07	0.47477	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.86814	0.6023	M	0.87038	2.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.88332	0.2969	10	0.87932	D	0	.	12.4158	0.55492	0.0:0.0:0.4351:0.5649	.	1353;1422	P02458-1;P02458	.;CO2A1_HUMAN	W	1422;1353;1353	ENSP00000369889:R1422W;ENSP00000338213:R1353W	ENSP00000338213:R1353W	R	-	1	2	COL2A1	46654192	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.587000	0.23909	1.033000	0.39918	0.655000	0.94253	CGG	COL2A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000139219		0.587	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2		0	34	0	G	NM_001844		48367925	-1			no_errors	ENST00000380518	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	48367925	G	A	48367925	3	1	46	1	0	0	0	0	1	0	0	0	3694	1115	39	1	207	1	COL2A1	12	48367925	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	26997815	48367925	85483970	135	11256											
MLL2	8085	genome.wustl.edu	37	chr12	49425503	49425503	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcctcagtgggaagctGggagctgggggaaggtaatt	8	8	19	6	0	1	0	1	0	0	0	1	3	1	3	1	6	2	3	1	6	3	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:49425503G>A	ENST00000301067.7	-	39	12984	c.12985C>T	c.(12985-12987)Cag>Tag	p.Q4329*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4329	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTGGGAAGCTGGGAGCTGGGG	0.622																																																	0													51	53	52					12																	49425503		1942	4131	6073	SO:0001587	stop_gained	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12985C>T	12.37:g.49425503G>A	ENSP00000301067:p.Gln4329*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q4329*	ENST00000301067.7	37	c.12985	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	52	19.235110	0.99916	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.22	3.22	0.36961	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.2796	0.15668	0.1216:0.2138:0.6645:0.0	.	.	.	.	X	4329	.	ENSP00000301067:Q4329X	Q	-	1	0	MLL2	47711770	0.038000	0.19896	0.997000	0.53966	0.716000	0.41182	1.041000	0.30291	1.760000	0.52011	0.655000	0.94253	CAG	KMT2D	-	NULL	ENSG00000167548		0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	53	0	G			49425503	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	22.58	46	14	SNP	0.985	A	A	49425503	G	A	49425503	4	1	46	1	0	0	0	0	0	1	0	0	9659	1357	47	3	3692	3	MLL2	12	49425503	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1057578	49425503	84426392	136	11257											
KRT85	3891	genome.wustl.edu	37	chr12	52757174	52757174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgaggtgtctgagatgtgGgcttggagaacgcggatctc	8	9	16	8	3	2	2	0	1	2	2	3	6	2	3	1	4	1	1	1	4	1	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:52757174G>A	ENST00000257901.3	-	5	882	c.807C>T	c.(805-807)gcC>gcT	p.A269A	KRT85_ENST00000544265.1_Silent_p.A57A	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	269	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAGATGTGGGCTTGGAGAA	0.547																																																	0													135	83	100					12																	52757174		2203	4300	6503	SO:0001819	synonymous_variant	0			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"-", "Intermediate filaments type II, keratins (basic)"	6462	protein-coding gene	gene with protein product	"hard keratin type II"	602767	"keratin, hair, basic, 5"	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.807C>T	12.37:g.52757174G>A			Q9NSB1	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.A269	ENST00000257901.3	37	c.807	CCDS8824.1	12																																																																																			KRT85	-	pfam_IF	ENSG00000135443		0.547	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	-	0	34	0	G	NM_002283		52757174	-1	tier1	-	no_errors	ENST00000257901	ensembl	human	known	74_37	silent	37.68	43	26	SNP	0.959	A	A	52757174	G	A	52757174	2	1	46	1	0	0	0	0	0	0	0	1	8526	1219	43	3		3	KRT85	12	52757174	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	3331671	52757174	81094721	137	11258											
KRT5	3852	genome.wustl.edu	37	chr12	52910941	52910941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctggatcatccggtTcatctcagagatctcatgct	8	12	8	13	1	5	1	4	0	3	1	8	3	6	2	2	2	2	2	2	2	0	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:52910941T>C	ENST00000252242.4	-	6	1558	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	390	Coil 2.|Rod.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCATCCGGTTCATCTCAGAG	0.522																																																	0													136	128	130					12																	52910941		2203	4300	6503	SO:0001583	missense	0				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1168A>G	12.37:g.52910941T>C	ENSP00000252242:p.Asn390Asp		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.N390D	ENST00000252242.4	37	c.1168	CCDS8830.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.256715|5.256715	0.95336|0.95336	.|.	.|.	ENSG00000186081|ENSG00000186081	ENST00000548409|ENST00000252242;ENST00000456000	.|D	.|0.89270	.|-2.49	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Filament (1);	.|0.000000	.|0.64402	.|D	.|0.000006	D|D	0.96303|0.96303	0.8794|0.8794	H|H	0.95884|0.95884	3.735|3.735	0.43830|0.43830	D|D	0.996408|0.996408	.|D	.|0.76494	.|0.999	.|D	.|0.76575	.|0.988	D|D	0.97461|0.97461	1.0034|1.0034	5|10	.|0.66056	.|D	.|0.02	.|.	15.8544|15.8544	0.78965|0.78965	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|390	.|P13647	.|K2C5_HUMAN	G|D	97|390;355	.|ENSP00000252242:N390D	.|ENSP00000252242:N390D	E|N	-|-	2|1	0|0	KRT5|KRT5	51197208|51197208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.286000|6.286000	0.72665|0.72665	2.140000|2.140000	0.66376|0.66376	0.533000|0.533000	0.62120|0.62120	GAA|AAC	KRT5	-	pfam_IF,superfamily_Prefoldin	ENSG00000186081		0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1		0	16	0	T			52910941	-1			no_errors	ENST00000252242	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	C	C	52910941	T	C	52910941	3	2	46	1	0	0	0	0	1	0	0	0	8506	1783	62	4	620	4	KRT5	12	52910941	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	153767	52910941	80940954	138	11259											
PPFIA2	8499	genome.wustl.edu	37	chr12	81839369	81839369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggtgctcaaacaaaGatttcagtgccttgagaact	11	12	9	9	0	2	2	2	1	0	2	2	3	2	2	2	1	4	1	2	1	3	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:81839369G>T	ENST00000549396.1	-	6	696	c.536C>A	c.(535-537)tCt>tAt	p.S179Y	PPFIA2_ENST00000550359.2_Missense_Mutation_p.S26Y|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S105Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S179Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S179Y|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S161Y|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S179Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S161Y|PPFIA2_ENST00000545296.2_5'UTR|RP11-315E17.1_ENST00000550272.1_RNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S105Y	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	179	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTCAAACAAAGATTTCAGTGC	0.428																																																	0													144	137	139					12																	81839369		1922	4142	6064	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.536C>A	12.37:g.81839369G>T	ENSP00000450337:p.Ser179Tyr		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.S179Y	ENST00000549396.1	37	c.536	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	30	5.051264	0.93740	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.80764	0.994;0.974	T	0.63492	-0.6625	10	0.87932	D	0	-10.2236	19.7763	0.96395	0.0:0.0:1.0:0.0	.	79;179	B7Z4H8;O75334	.;LIPA2_HUMAN	Y	179;161;105;190;161;179;105;179	ENSP00000450337:S179Y;ENSP00000450298:S161Y;ENSP00000385093:S105Y;ENSP00000327416:S161Y;ENSP00000449338:S179Y;ENSP00000388373:S105Y;ENSP00000447868:S179Y	ENSP00000327416:S161Y	S	-	2	0	PPFIA2	80363500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.684000	0.91462	0.650000	0.86243	TCT	PPFIA2	-	NULL	ENSG00000139220		0.428	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	79	0	G			81839369	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	21.33	59	16	SNP	1.000	T	T	81839369	G	T	81839369	3	4	46	1	0	0	0	0	1	0	0	0	12349	942	33	3	3345	3	PPFIA2	12	81839369	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	28928428	81839369	52012526	139	11260											
DDX54	79039	genome.wustl.edu	37	chr12	113603800	113603800	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtccaccacactctgTggcacccgacccagcatgcc	7	7	7	20	2	1	0	0	0	1	0	4	1	3	0	6	1	2	2	6	1	0	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:113603800T>C	ENST00000306014.5	-	13	1479	c.1452A>G	c.(1450-1452)ccA>ccG	p.P484P	DDX54_ENST00000314045.7_Silent_p.P484P	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	484					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACACTCTGTGGCACCCGAC	0.662																																																	0													51	52	52					12																	113603800		2203	4300	6503	SO:0001819	synonymous_variant	0			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.1452A>G	12.37:g.113603800T>C			Q86YT8|Q9BRZ1	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P484	ENST00000306014.5	37	c.1452	CCDS31907.1	12																																																																																			DDX54	-	NULL	ENSG00000123064		0.662	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	-	0	76	0	T	NM_024072		113603800	-1	tier1	-	no_errors	ENST00000314045	ensembl	human	known	74_37	silent	5.88	80	5	SNP	0.243	C	C	113603800	T	C	113603800	2	2	46	1	0	0	0	0	0	0	0	1	4381	1683	59	4		4	DDX54	12	113603800	Silent	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	31764431	113603800	20248095	140	11261											
BCL7A	605	genome.wustl.edu	37	chr12	122468610	122468610	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcctcctcagggagAagaaatgggtgaccgttggt	9	10	12	10	1	2	3	2	1	0	2	5	4	5	3	4	3	0	1	4	3	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr12:122468610A>T	ENST00000261822.4	+	2	303	c.97A>T	c.(97-99)Aag>Tag	p.K33*	BCL7A_ENST00000538010.1_Nonsense_Mutation_p.K33*	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	33					negative regulation of transcription, DNA-templated (GO:0045892)					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CCTCAGGGAGAAGAAATGGGT	0.577			T	MYC	BNHL																																GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0													142	119	127					12																	122468610		2203	4300	6503	SO:0001587	stop_gained	0			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.97A>T	12.37:g.122468610A>T	ENSP00000261822:p.Lys33*		B4DJN6|B7ZB21|Q13843|Q14CT7	Nonsense_Mutation	SNP	pfam_BCL7	p.K33*	ENST00000261822.4	37	c.97	CCDS53841.1	12	.	.	.	.	.	.	.	.	.	.	A	38	7.037649	0.98021	.	.	ENSG00000110987	ENST00000538010;ENST00000261822	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1871	0.73012	1.0:0.0:0.0:0.0	.	.	.	.	X	33	.	ENSP00000261822:K33X	K	+	1	0	BCL7A	120952993	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.506000	0.90518	2.234000	0.73211	0.459000	0.35465	AAG	BCL7A	-	pfam_BCL7	ENSG00000110987		0.577	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	HGNC	protein_coding	OTTHUMT00000401712.1		0	41	0	A			122468610	1			no_errors	ENST00000538010	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	122468610	A	T	122468610	4	4	46	1	0	0	0	0	0	1	0	0	1379	247	9	5	103	5	BCL7A	12	122468610	Nonsense_Mutation	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	8864810	122468610	11383285	141	11262											
SACS	26278	genome.wustl.edu	37	chr13	23906661	23906661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactgaaaacgaaattccCttttttctgcactgaggaat	13	12	7	9	1	1	2	0	2	1	0	2	4	2	3	1	1	3	2	1	1	5	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr13:23906661C>T	ENST00000382292.3	-	9	11627	c.11354G>A	c.(11353-11355)aGg>aAg	p.R3785K	SACS_ENST00000402364.1_Missense_Mutation_p.R3035K|SACS_ENST00000382298.3_Missense_Mutation_p.R3785K			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3785					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACGAAATTCCCTTTTTTCTGC	0.388																																																	0													100	88	92					13																	23906661		2203	4299	6502	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11354G>A	13.37:g.23906661C>T	ENSP00000371729:p.Arg3785Lys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.R3785K	ENST00000382292.3	37	c.11354	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214053	0.01555	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86297	-1.97;-2.1;-1.97	5.61	4.58	0.56647	.	0.047266	0.85682	D	0.000000	T	0.76513	0.3998	N	0.22421	0.69	0.28101	N	0.931396	B	0.02656	0.0	B	0.01281	0.0	T	0.55598	-0.8116	10	0.06099	T	0.92	.	15.3941	0.74778	0.0:0.9218:0.0:0.0782	.	3785	Q9NZJ4	SACS_HUMAN	K	3785;3035;3785	ENSP00000371729:R3785K;ENSP00000385844:R3035K;ENSP00000371735:R3785K	ENSP00000371729:R3785K	R	-	2	0	SACS	22804661	0.986000	0.35501	0.965000	0.40720	0.136000	0.21042	2.579000	0.46059	2.638000	0.89438	0.467000	0.42956	AGG	SACS	-	NULL	ENSG00000151835		0.388	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0	48	0	C	NM_014363		23906661	-1			no_errors	ENST00000382292	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.980	T	T	23906661	C	T	23906661	3	4	46	1	0	0	0	0	1	0	0	0	13849	681	24	3	2389	3	SACS	13	23906661	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		23906661	91263217	142	11263											
FREM2	341640	genome.wustl.edu	37	chr13	39358714	39358714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacagcaactggaactgtgCcgacttccgtgttgtcttac	9	11	10	11	2	1	0	0	0	1	0	2	3	2	1	2	1	6	2	2	1	4	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr13:39358714C>T	ENST00000280481.7	+	6	6004	c.5788C>T	c.(5788-5790)Ccg>Tcg	p.P1930S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1930	Calx-beta 2.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGAACTGTGCCGACTTCCGT	0.418																																																	0													108	99	102					13																	39358714		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5788C>T	13.37:g.39358714C>T	ENSP00000280481:p.Pro1930Ser		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P1930S	ENST00000280481.7	37	c.5788	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526275	0.85600	.	.	ENSG00000150893	ENST00000280481	T	0.19669	2.13	6.02	6.02	0.97574	Na-Ca exchanger/integrin-beta4 (2);	0.052003	0.85682	D	0.000000	T	0.36799	0.0980	L	0.49350	1.555	0.80722	D	1	D;P	0.58620	0.983;0.954	P;P	0.56788	0.789;0.806	T	0.00655	-1.1624	10	0.19590	T	0.45	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	1930;1930	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	S	1930	ENSP00000280481:P1930S	ENSP00000280481:P1930S	P	+	1	0	FREM2	38256714	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	7.731000	0.84895	2.850000	0.98022	0.650000	0.86243	CCG	FREM2	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000150893		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2		0	18	0	C	NM_207361		39358714	1			no_errors	ENST00000280481	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	T	T	39358714	C	T	39358714	3	4	46	1	0	0	0	0	1	0	0	0	6069	739	26	3	5810	3	FREM2	13	39358714	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	15452053	39358714	75811164	143	11264											
NHLRC3	387921	genome.wustl.edu	37	chr13	39622028	39622028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaagtacaaaaatatgtcCctttgaatagctatgttcct	15	13	5	8	0	0	1	0	1	0	0	2	1	2	1	2	0	3	3	2	0	9	6			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr13:39622028C>T	ENST00000379600.3	+	7	1331	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	NHLRC3_ENST00000470258.1_Missense_Mutation_p.P140S|NHLRC3_ENST00000379599.2_Missense_Mutation_p.P270S	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	337						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		AAAATATGTCCCTTTGAATAG	0.368																																																	0													75	69	71					13																	39622028		2203	4300	6503	SO:0001583	missense	0				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.1009C>T	13.37:g.39622028C>T	ENSP00000368920:p.Pro337Ser		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.P337S	ENST00000379600.3	37	c.1009	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923813	0.34002	.	.	ENSG00000188811	ENST00000470258;ENST00000379600;ENST00000379599	D;D;D	0.90444	-2.67;-2.67;-2.67	4.95	4.11	0.48088	.	0.158182	0.64402	N	0.000019	D	0.93236	0.7845	M	0.66939	2.045	0.29927	N	0.822253	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88970	0.3400	9	.	.	.	-3.8523	7.8564	0.29485	0.1593:0.7589:0.0:0.0817	.	270;337	B4DTL0;Q5JS37	.;NHLC3_HUMAN	S	140;337;270	ENSP00000418127:P140S;ENSP00000368920:P337S;ENSP00000368919:P270S	.	P	+	1	0	NHLRC3	38520028	0.999000	0.42202	0.027000	0.17364	0.029000	0.11900	5.167000	0.64972	1.217000	0.43442	-0.253000	0.11424	CCT	NHLRC3	-	NULL	ENSG00000188811		0.368	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	-	0	20	0	C	NM_001012754		39622028	1	tier1	-	no_errors	ENST00000379600	ensembl	human	known	74_37	missense	33.33	14	7	SNP	0.648	T	T	39622028	C	T	39622028	3	4	46	1	0	0	0	0	1	0	0	0	10446	623	22	3	1035	3	NHLRC3	13	39622028	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	263314	39622028	75547850	144	11265											
PCDH20	64881	genome.wustl.edu	37	chr13	61987736	61987736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaggaggagatggaaaCgctgccgctccacgcagtcc	11	4	15	11	3	0	2	0	0	0	2	2	6	2	4	3	4	2	3	3	4	1	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr13:61987736C>T	ENST00000409186.1	-	5	2601	c.496G>A	c.(496-498)Gtt>Att	p.V166I	PCDH20_ENST00000409204.4_Missense_Mutation_p.V166I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	166	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGATGGAAACGCTGCCGCTC	0.562																																																	0													82	64	70					13																	61987736		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.496G>A	13.37:g.61987736C>T	ENSP00000386653:p.Val166Ile		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V166I	ENST00000409186.1	37	c.496	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	c	11.08	1.532957	0.27387	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.54279	0.58;0.58	5.65	-0.753	0.11068	.	0.749161	0.12219	N	0.488539	T	0.32224	0.0822	N	0.14661	0.345	0.18873	N	0.999987	B	0.02656	0.0	B	0.04013	0.001	T	0.18429	-1.0337	10	0.35671	T	0.21	.	10.5448	0.45054	0.0:0.513:0.0:0.487	.	166	A8K1K9	.	I	166	ENSP00000387250:V166I;ENSP00000386653:V166I	ENSP00000386653:V166I	V	-	1	0	PCDH20	60885737	0.993000	0.37304	0.995000	0.50966	0.950000	0.60333	0.427000	0.21379	-0.114000	0.11936	-0.310000	0.09108	GTT	PCDH20	-	pfscan_Cadherin	ENSG00000197991		0.562	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0	47	0	C	NM_022843		61987736	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	36.84	36	21	SNP	0.997	T	T	61987736	C	T	61987736	3	4	46	1	0	0	0	0	1	0	0	0	11554	536	19	1	2363	1	PCDH20	13	61987736	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	22365708	61987736	53182142	145	11266											
NOVA1	4857	genome.wustl.edu	37	chr14	27064755	27064755	+	De_novo_Start_OutOfFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttagaaaatactggccGtcttctgaaaaatgcaaaga	16	10	7	8	1	2	3	0	1	2	2	2	3	2	3	2	1	2	1	2	1	7	4	rs141059341		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr14:27064755G>A	ENST00000267422.7	-	0	140				NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000465357.2_Silent_p.D47D|NOVA1_ENST00000344429.5_Silent_p.D47D|NOVA1_ENST00000539517.2_Silent_p.D47D|NOVA1_ENST00000547619.1_Silent_p.D47D|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000574031.1_Silent_p.D47D|NOVA1_ENST00000551754.1_5'Flank			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AATACTGGCCGTCTTCTGAAA	0.393																																																	0								G	,,	0,4406		0,0,2203	69	65	66		141,141,141	4.9	1	14	dbSNP_134	66	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	NOVA1	NM_002515.2,NM_006489.2,NM_006491.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	47/508,47/484,47/182	27064755	2,13004	2203	4300	6503			0			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000267422.7:c.-328C>T	14.37:g.27064755G>A			A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.D47	ENST00000267422.7	37	c.141		14																																																																																			NOVA1	-	NULL	ENSG00000139910		0.393	NOVA1-201	KNOWN	basic	protein_coding	NOVA1	HGNC	protein_coding			0	31	0	G	NM_006491		27064755	-1			no_errors	ENST00000539517	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A	A	27064755	G	A	27064755	1	1	46	1	0	1	0	0	0	0	0	0	10593	1136	40	1		1	NOVA1	14	27064755	De_novo_Start_OutOfFrame	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		27064755	80284785	146	11267											
CDKL1	8814	genome.wustl.edu	37	chr14	50808938	50808938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcacgtctctatgtatGcactagtgtaacaaatcaaa	13	12	7	9	1	3	0	2	0	1	0	4	0	3	0	0	1	2	4	0	1	6	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr14:50808938G>A	ENST00000216378.2	-	5	1013	c.369C>T	c.(367-369)tgC>tgT	p.C123C	CDKL1_ENST00000395834.1_Silent_p.C123C|CDKL1_ENST00000356146.1_5'UTR	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					CTCTATGTATGCACTAGTGTA	0.333																																																	0													116	101	106					14																	50808938		2203	4300	6503	SO:0001819	synonymous_variant	0			AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"Cyclin-dependent kinases"	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.369C>T	14.37:g.50808938G>A			Q2M3A4|Q6QUA0|Q8WXQ5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C123	ENST00000216378.2	37	c.369		14																																																																																			CDKL1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000100490		0.333	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	CDKL1	HGNC	protein_coding	OTTHUMT00000382103.1		0	36	0	G			50808938	-1			no_errors	ENST00000395834	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	A	A	50808938	G	A	50808938	2	1	46	1	0	0	0	0	0	0	0	1	3160	1311	46	3		3	CDKL1	14	50808938	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	23744183	50808938	56540602	147	11268											
GPR132	29933	genome.wustl.edu	37	chr14	105518385	105518385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacgttgttgcaggtcttgGcggagaggcccagggaggcc	7	7	17	10	2	1	1	0	0	1	1	1	3	1	2	2	6	1	3	2	6	0	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr14:105518385G>T	ENST00000329797.3	-	4	1000	c.89C>A	c.(88-90)gCc>gAc	p.A30D	GPR132_ENST00000392585.2_Missense_Mutation_p.A21D|GPR132_ENST00000539291.2_Missense_Mutation_p.A30D|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	30					G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCAGGTCTTGGCGGAGAGGCC	0.637																																																	0													57	62	60					14																	105518385		2203	4300	6503	SO:0001583	missense	0			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"GPCR / Class A : Orphans"	17482	protein-coding gene	gene with protein product	"G2 accumulation"	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.89C>A	14.37:g.105518385G>T	ENSP00000328818:p.Ala30Asp		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A30D	ENST00000329797.3	37	c.89	CCDS9997.1	14	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298078	0.23650	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.36340	1.26;1.27;1.26	3.1	-0.615	0.11587	.	2.198330	0.02041	N	0.049272	T	0.19805	0.0476	N	0.14661	0.345	0.09310	N	1	B;B	0.24823	0.112;0.089	B;B	0.18871	0.016;0.023	T	0.10800	-1.0614	10	0.12430	T	0.62	.	5.6478	0.17598	0.0:0.4161:0.3723:0.2116	.	21;30	B4E144;Q9UNW8	.;GP132_HUMAN	D	30;21;30	ENSP00000328818:A30D;ENSP00000376364:A21D;ENSP00000438094:A30D	ENSP00000328818:A30D	A	-	2	0	GPR132	104589430	0.020000	0.18652	0.000000	0.03702	0.014000	0.08584	2.095000	0.41729	0.096000	0.17463	0.313000	0.20887	GCC	GPR132	-	NULL	ENSG00000183484		0.637	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR132	HGNC	protein_coding	OTTHUMT00000409278.1		0	50	0	G	NM_013345		105518385	-1			no_errors	ENST00000329797	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	105518385	G	T	105518385	3	4	46	1	0	0	0	0	1	0	0	0	6668	1203	42	3	1057	3	GPR132	14	105518385	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	54709447	105518385	1831155	148	11269											
SMAD3	4088	genome.wustl.edu	37	chr15	67482843	67482843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcctcacccagatgggctCcccaagcatccgctgttcca	7	8	9	17	1	1	1	1	0	0	1	5	1	5	1	6	2	1	4	6	2	1	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr15:67482843C>T	ENST00000327367.4	+	9	1557	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F	SMAD3_ENST00000439724.3_Missense_Mutation_p.S372F|SMAD3_ENST00000537194.2_Missense_Mutation_p.S221F|SMAD3_ENST00000540846.2_Missense_Mutation_p.S311F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	416	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CAGATGGGCTCCCCAAGCATC	0.547																																																	0													60	52	55					15																	67482843		2201	4299	6500	SO:0001583	missense	0			BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"SMADs"	6769	protein-coding gene	gene with protein product		603109	"MAD, mothers against decapentaplegic homolog 3 (Drosophila)", "SMAD, mothers against DPP homolog 3 (Drosophila)"	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.1247C>T	15.37:g.67482843C>T	ENSP00000332973:p.Ser416Phe		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S416F	ENST00000327367.4	37	c.1247	CCDS10222.1	15	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020704	0.93462	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	4.97	4.97	0.65823	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.57502	0.822;0.822	D	0.99529	1.0960	10	0.87932	D	0	.	18.2521	0.90007	0.0:1.0:0.0:0.0	.	372;416	B7Z4Z5;P84022	.;SMAD3_HUMAN	F	416;416;311;372;221	ENSP00000332973:S416F;ENSP00000437757:S311F;ENSP00000401133:S372F;ENSP00000445348:S221F	ENSP00000332973:S416F	S	+	2	0	SMAD3	65269897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.723000	0.84788	2.318000	0.78349	0.561000	0.74099	TCC	SMAD3	-	superfamily_SMAD_FHA_domain,pfscan_SMAD_dom_Dwarfin-type	ENSG00000166949		0.547	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD3	HGNC	protein_coding	OTTHUMT00000256967.2	-	0	40	0	C	NM_005902		67482843	1	tier1	-	no_errors	ENST00000327367	ensembl	human	known	74_37	missense	26.53	35	13	SNP	1.000	T	T	67482843	C	T	67482843	3	4	46	1	0	0	0	0	1	0	0	0	14804	855	30	3	1359	3	SMAD3	15	67482843	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		67482843	35048549	149	11270											
STOML1	9399	genome.wustl.edu	37	chr15	74276440	74276440	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccacatcagggatgccAtcaggcaccccgtgtcccac	10	5	8	18	1	2	0	2	0	0	0	3	1	3	1	6	2	1	1	6	2	0	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr15:74276440A>T	ENST00000316900.5	-	7	1159	c.1035T>A	c.(1033-1035)gaT>gaA	p.D345E	STOML1_ENST00000359750.4_Missense_Mutation_p.D274E|STOML1_ENST00000316911.6_Missense_Mutation_p.D295E|STOML1_ENST00000561656.1_Missense_Mutation_p.D257E|STOML1_ENST00000541638.1_Missense_Mutation_p.D302E|STOML1_ENST00000564777.1_Missense_Mutation_p.D294E	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	345	SCP2.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CAGGGATGCCATCAGGCACCC	0.617																																																	0													36	36	36					15																	74276440		2198	4297	6495	SO:0001583	missense	0			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"stomatin-like 1", "stomatin (EBP72)-like 1"	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.1035T>A	15.37:g.74276440A>T	ENSP00000319323:p.Asp345Glu		B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.D345E	ENST00000316900.5	37	c.1035	CCDS10254.1	15	.	.	.	.	.	.	.	.	.	.	A	2.853	-0.237920	0.05944	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	4.41	-8.81	0.00813	SCP2 sterol-binding domain (2);	0.937244	0.09064	N	0.853857	T	0.06962	0.0177	N	0.16266	0.395	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.001;0.001	T	0.33879	-0.9851	10	0.10902	T	0.67	-4.7396	2.1305	0.03749	0.2007:0.1594:0.4185:0.2214	.	302;274;295;274;344;345	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	E	345;295;302;274	ENSP00000319323:D345E;ENSP00000319384:D295E;ENSP00000442478:D302E;ENSP00000352788:D274E	ENSP00000319323:D345E	D	-	3	2	STOML1	72063493	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-3.132000	0.00590	-1.534000	0.01743	-0.376000	0.06991	GAT	STOML1	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000067221		0.617	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1		0	19	0	A	NM_004809		74276440	-1			no_errors	ENST00000316900	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	T	T	74276440	A	T	74276440	3	4	46	1	0	0	0	0	1	0	0	0	15360	214	8	5	165	5	STOML1	15	74276440	Missense_Mutation	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	6793597	74276440	28254952	150	11271											
SH3GL3	6457	genome.wustl.edu	37	chr15	84237334	84237334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcgaagatccgagggcagGtgaagaccacaggatacccg	12	5	14	10	3	0	3	0	1	0	2	2	6	1	4	3	3	1	1	3	3	3	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr15:84237334G>A	ENST00000427482.2	+	4	547	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	SH3GL3_ENST00000535412.1_Missense_Mutation_p.V81M|SH3GL3_ENST00000324537.5_Missense_Mutation_p.V89M|SH3GL3_ENST00000434347.1_Missense_Mutation_p.V89M	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	81	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Required for dimerization upon membrane association. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CCGAGGGCAGGTGAAGACCAC	0.473																																																	0													87	87	87					15																	84237334		2203	4300	6503	SO:0001583	missense	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.241G>A	15.37:g.84237334G>A	ENSP00000391372:p.Val81Met		O43553|O43554	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain	p.V89M	ENST00000427482.2	37	c.265	CCDS10325.2	15	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071015	0.76301	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.86	3.89	0.44902	BAR (3);	0.197195	0.42821	D	0.000649	T	0.46073	0.1374	M	0.79805	2.47	0.58432	D	0.999998	P;P;P	0.52577	0.954;0.62;0.566	P;P;B	0.50590	0.645;0.516;0.295	T	0.52563	-0.8559	10	0.48119	T	0.1	-17.2023	14.1543	0.65407	0.0:0.0:0.8505:0.1495	.	81;81;89	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	M	81;81;89;89	ENSP00000391372:V81M;ENSP00000439239:V81M;ENSP00000320092:V89M;ENSP00000397871:V89M	ENSP00000320092:V89M	V	+	1	0	SH3GL3	82028338	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.248000	0.72418	2.402000	0.81655	0.544000	0.68410	GTG	SH3GL3	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000140600		0.473	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	HGNC	protein_coding	OTTHUMT00000347797.1	-	0	36	0	G	NM_003027		84237334	1	tier1	-	no_errors	ENST00000324537	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	A	A	84237334	G	A	84237334	3	1	46	1	0	0	0	0	1	0	0	0	14297	1261	44	3	255	3	SH3GL3	15	84237334	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	9960894	84237334	18294058	151	11272											
CRTC3	64784	genome.wustl.edu	37	chr15	91181743	91181743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagcccaggtgtcgccGccacccccttaccctgcacc	6	6	8	21	2	1	0	1	0	0	0	2	0	1	0	7	1	3	2	7	1	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr15:91181743G>A	ENST00000268184.6	+	12	1336	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.P444P			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	444	Poly-Pro.				energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AGGTGTCGCCGCCACCCCCTT	0.632			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													68	69	68					15																	91181743		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1332G>A	15.37:g.91181743G>A			Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	NULL	p.P444	ENST00000268184.6	37	c.1332	CCDS32331.1	15																																																																																			CRTC3	-	NULL	ENSG00000140577		0.632	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2		0	20	0	G	NM_022769		91181743	1			no_errors	ENST00000268184	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.007	A	A	91181743	G	A	91181743	2	1	46	1	0	0	0	0	0	0	0	1	3908	1074	38	1		1	CRTC3	15	91181743	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	6944409	91181743	11349649	152	11273											
LRRK1	79705	genome.wustl.edu	37	chr15	101554585	101554585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacctcaagagaagtggaCctgcaggcagctcaaaaccc	13	5	9	14	0	2	1	2	0	0	1	3	3	3	2	4	2	3	3	4	2	4	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr15:101554585C>T	ENST00000388948.3	+	11	1843	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I	LRRK1_ENST00000284395.5_Missense_Mutation_p.T492I	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGAAGTGGACCTGCAGGCAG	0.567																																																	0													87	92	91					15																	101554585		1936	4142	6078	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1484C>T	15.37:g.101554585C>T	ENSP00000373600:p.Thr495Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.T495I	ENST00000388948.3	37	c.1484	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533724	0.45073	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.57595	0.39;0.39	5.46	4.52	0.55395	.	0.190394	0.42821	D	0.000645	T	0.44540	0.1298	L	0.33668	1.02	0.30385	N	0.781598	B	0.30793	0.295	B	0.38842	0.283	T	0.49293	-0.8955	10	0.37606	T	0.19	.	9.1171	0.36764	0.1769:0.6737:0.1494:0.0	.	495	Q38SD2	LRRK1_HUMAN	I	495;492	ENSP00000373600:T495I;ENSP00000284395:T492I	ENSP00000284395:T492I	T	+	2	0	LRRK1	99372108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.253000	0.51469	1.245000	0.43885	0.549000	0.68633	ACC	LRRK1	-	NULL	ENSG00000154237		0.567	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	26	0	C	NM_024652		101554585	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	101554585	C	T	101554585	3	4	46	1	0	0	0	0	1	0	0	0	9067	507	18	3	1522	3	LRRK1	15	101554585	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	10372842	101554585	976807	153	11274											
SPSB3	90864	genome.wustl.edu	37	chr16	1827862	1827862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcttgtcgcccttgtGgtggaggaggcctgggggca	3	10	19	9	1	1	0	0	0	1	0	2	2	1	2	2	7	0	2	2	7	0	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:1827862G>A	ENST00000566339.1	-	6	937	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	SPSB3_ENST00000301717.4_Missense_Mutation_p.H203Y	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	203	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCGCCCTTGTGGTGGAGGAGG	0.672																																																	0													44	44	44					16																	1827862		2197	4299	6496	SO:0001583	missense	0				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"chromosome 16 open reading frame 31"	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.607C>T	16.37:g.1827862G>A	ENSP00000457206:p.His203Tyr		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.H203Y	ENST00000566339.1	37	c.607	CCDS32365.1	16	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318557	0.81469	.	.	ENSG00000162032	ENST00000301717	T	0.62105	0.05	4.33	4.33	0.51752	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.82190	0.4983	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86833	0.2012	10	0.87932	D	0	-19.3483	15.3934	0.74767	0.0:0.0:1.0:0.0	.	203	Q6PJ21	SPSB3_HUMAN	Y	203	ENSP00000301717:H203Y	ENSP00000301717:H203Y	H	-	1	0	SPSB3	1767863	1.000000	0.71417	0.984000	0.44739	0.675000	0.39556	9.239000	0.95389	1.941000	0.56285	0.561000	0.74099	CAC	SPSB3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000162032		0.672	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB3	HGNC	protein_coding	OTTHUMT00000433512.1	-	0	60	0	G	NM_080861		1827862	-1	tier1	-	no_errors	ENST00000301717	ensembl	human	known	74_37	missense	32.81	43	21	SNP	1.000	A	A	1827862	G	A	1827862	3	1	46	1	0	0	0	0	1	0	0	0	15161	1348	47	3	468	3	SPSB3	16	1827862	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		1827862	88526891	154	11275											
DCI	1632	genome.wustl.edu	37	chr16	2293218	2293218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggtgttctccagggtgtCtttcaacctggaaatgcaga	9	12	12	8	0	3	1	1	0	2	1	4	3	3	2	2	3	2	2	2	3	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:2293218C>G	ENST00000301729.4	-	6	618	c.571G>C	c.(571-573)Gac>Cac	p.D191H	ECI1_ENST00000562238.1_Missense_Mutation_p.D174H|RP11-304L19.11_ENST00000565709.1_RNA|ECI1_ENST00000570258.1_Missense_Mutation_p.D132H	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	191					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						TCCAGGGTGTCTTTCAACCTG	0.662																																																	0													46	48	47					16																	2293218		2198	4298	6496	SO:0001583	missense	0				CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.571G>C	16.37:g.2293218C>G	ENSP00000301729:p.Asp191His		A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.D191H	ENST00000301729.4	37	c.571	CCDS10464.1	16	.	.	.	.	.	.	.	.	.	.	C	24.4	4.521987	0.85600	.	.	ENSG00000167969	ENST00000301729	D	0.85484	-1.99	4.9	4.9	0.64082	Crotonase, core (1);	0.048822	0.85682	D	0.000000	D	0.92244	0.7540	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.968	D;P	0.87578	0.998;0.701	D	0.92857	0.6302	10	0.62326	D	0.03	-53.6555	15.6263	0.76859	0.0:1.0:0.0:0.0	.	174;191	P42126-2;P42126	.;ECI1_HUMAN	H	191	ENSP00000301729:D191H	ENSP00000301729:D191H	D	-	1	0	ECI1	2233219	1.000000	0.71417	0.722000	0.30670	0.054000	0.15201	7.411000	0.80078	2.550000	0.86006	0.591000	0.81541	GAC	ECI1	-	pfam_Crotonase_core_superfam	ENSG00000167969		0.662	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECI1	HGNC	protein_coding	OTTHUMT00000250768.1	-	0	71	0	C			2293218	-1	tier1	-	no_errors	ENST00000301729	ensembl	human	known	74_37	missense	37.08	56	33	SNP	1.000	G	G	2293218	C	G	2293218	3	3	46	1	0	0	0	0	1	0	0	0	4298	913	32	5	345	5	DCI	16	2293218	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	465356	2293218	88061535	155	11276											
NLRC3	197358	genome.wustl.edu	37	chr16	3613041	3613041	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtagagcagctggggcaGcaggctctgaaggacgccct	9	5	16	11	1	1	2	0	1	1	1	1	3	1	3	1	4	3	7	1	4	2	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:3613041G>A	ENST00000301749.7	-	0	2302				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCTGGGGCAGCAGGCTCTGA	0.697																																																	0													6	8	7					16																	3613041		1917	4070	5987			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613041G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L680	ENST00000301749.7	37	c.2038		16																																																																																			NLRC3	-	NULL	ENSG00000167984		0.697	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene			0	96	0	G	NM_178844		3613041	-1			no_errors	ENST00000448023	ensembl	human	known	74_37	silent	5.33	70	4	SNP	1.000	A	A	3613041	G	A	3613041	1	1	46	0	1	0	0	0	0	0	0	0	10507	962	34	3		3	NLRC3	16	3613041	RNA	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1319823	3613041	86741712	156	11277											
SRL	6345	genome.wustl.edu	37	chr16	4242709	4242709	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccagaaggagctgacGtaaacccttgggggctctgt	8	9	15	9	1	1	2	0	1	1	1	1	3	1	3	2	4	2	3	2	4	3	2	rs59226311	byFrequency	TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:4242709G>T	ENST00000399609.3	-	6	879	c.867C>A	c.(865-867)taC>taA	p.Y289*	SRL_ENST00000537996.1_Nonsense_Mutation_p.Y247*	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	748	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGGAGCTGACGTAAACCCTTG	0.547																																																	0													82	87	85					16																	4242709		1932	4137	6069	SO:0001587	stop_gained	0			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.867C>A	16.37:g.4242709G>T	ENSP00000382518:p.Tyr289*			Nonsense_Mutation	SNP	pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.Y289*	ENST00000399609.3	37	c.867	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969248	0.53614	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	.	.	.	4.9	-7.55	0.01327	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.813	17.4637	0.87626	0.3047:0.0:0.6953:0.0	.	.	.	.	X	289;747;247	.	ENSP00000333285:Y747X	Y	-	3	2	SRL	4182710	0.001000	0.12720	0.606000	0.28943	0.989000	0.77384	-1.478000	0.02329	-1.976000	0.00996	-0.140000	0.14226	TAC	SRL	-	superfamily_P-loop_NTPase	ENSG00000185739		0.547	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	-	0	80	0	G	XM_064152		4242709	-1	tier1	-	no_errors	ENST00000399609	ensembl	human	known	74_37	nonsense	44.57	51	41	SNP	0.716	T	T	4242709	G	T	4242709	4	4	46	1	0	0	0	0	0	1	0	0	15197	1140	40	2	558	2	SRL	16	4242709	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	629668	4242709	86112044	157	11278											
CIITA	4261	genome.wustl.edu	37	chr16	11001372	11001372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagacatcaaagtaccCtacaggaggaccagttccca	13	5	9	14	1	1	1	1	0	0	1	2	3	2	3	4	2	2	3	4	2	3	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:11001372C>T	ENST00000324288.8	+	11	2156	c.2023C>T	c.(2023-2025)Cta>Tta	p.L675L	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	675	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAAAGTACCCTACAGGAGGA	0.682			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													37	38	38					16																	11001372		2197	4300	6497	SO:0001819	synonymous_variant	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2023C>T	16.37:g.11001372C>T			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.L675	ENST00000324288.8	37	c.2023	CCDS10544.1	16																																																																																			CIITA	-	pfscan_NACHT_NTPase,prints_MHC_II_transact	ENSG00000179583		0.682	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	-	0	16	0	C	NM_000246		11001372	1	tier1	-	no_errors	ENST00000324288	ensembl	human	known	74_37	silent	57.89	8	11	SNP	0.574	T	T	11001372	C	T	11001372	2	4	46	1	0	0	0	0	0	0	0	1	3435	680	24	3		3	CIITA	16	11001372	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	6758663	11001372	79353381	158	11279											
CIITA	4261	genome.wustl.edu	37	chr16	11002890	11002890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctccctccacagggctGccttgagcgacacggtggcg	5	6	14	16	3	0	1	0	1	0	0	2	2	2	1	4	4	2	1	4	4	0	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:11002890G>A	ENST00000324288.8	+	12	2795	c.2662G>A	c.(2662-2664)Gcc>Acc	p.A888T	CIITA_ENST00000381835.5_Missense_Mutation_p.A304T|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	888					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCACAGGGCTGCCTTGAGCGA	0.577			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	0													53	43	46					16																	11002890		2197	4300	6497	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2662G>A	16.37:g.11002890G>A	ENSP00000316328:p.Ala888Thr		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.A888T	ENST00000324288.8	37	c.2662	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003929	0.54254	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.73047	-0.71;1.64	4.85	-2.71	0.05986	.	0.722290	0.12313	N	0.480058	T	0.53786	0.1818	L	0.44542	1.39	0.09310	N	1	P;B;B	0.44946	0.846;0.212;0.212	B;B;B	0.38842	0.283;0.114;0.079	T	0.50294	-0.8845	10	0.20046	T	0.44	.	8.6886	0.34254	0.1009:0.0:0.1708:0.7282	.	304;888;888	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	T	888;304	ENSP00000316328:A888T;ENSP00000371257:A304T	ENSP00000316328:A888T	A	+	1	0	CIITA	10910391	0.177000	0.23109	0.004000	0.12327	0.916000	0.54674	0.724000	0.25954	-0.269000	0.09298	0.491000	0.48974	GCC	CIITA	-	NULL	ENSG00000179583		0.577	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	-	0	35	0	G	NM_000246		11002890	1	tier1	-	no_errors	ENST00000324288	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.004	A	A	11002890	G	A	11002890	3	1	46	1	0	0	0	0	1	0	0	0	3435	1319	46	3	2708	3	CIITA	16	11002890	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1518	11002890	79351863	159	11280											
EEF2K	29904	genome.wustl.edu	37	chr16	22295238	22295238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccaggcagcagaggcagCgatggaagccatgaagggcc	12	3	15	11	1	0	2	0	1	0	1	0	4	0	3	3	4	4	3	3	4	3	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:22295238C>T	ENST00000263026.5	+	18	2573	c.2099C>T	c.(2098-2100)gCg>gTg	p.A700V	RP11-141O15.1_ENST00000562376.1_RNA|RP11-141O15.1_ENST00000568125.1_RNA	NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	700					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCAGAGGCAGCGATGGAAGCC	0.562																																					NSCLC(195;1411 2157 20319 27471 51856)												0													31	26	28					16																	22295238		2193	4293	6486	SO:0001583	missense	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.2099C>T	16.37:g.22295238C>T	ENSP00000263026:p.Ala700Val		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.A700V	ENST00000263026.5	37	c.2099	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.639551	0.96693	.	.	ENSG00000103319	ENST00000263026	T	0.35048	1.33	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67047	-0.5769	10	0.87932	D	0	-21.326	19.8575	0.96767	0.0:1.0:0.0:0.0	.	700	O00418	EF2K_HUMAN	V	700	ENSP00000263026:A700V	ENSP00000263026:A700V	A	+	2	0	EEF2K	22202739	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.416000	0.80143	2.698000	0.92095	0.561000	0.74099	GCG	EEF2K	-	pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.562	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	-	0	57	0	C	NM_013302		22295238	1	tier1	-	no_errors	ENST00000263026	ensembl	human	known	74_37	missense	5.32	89	5	SNP	1.000	T	T	22295238	C	T	22295238	3	4	46	1	0	0	0	0	1	0	0	0	4944	768	27	1	2165	1	EEF2K	16	22295238	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	11292348	22295238	68059515	160	11281											
ERN2	10595	genome.wustl.edu	37	chr16	23712332	23712332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggacagcagtgaggctaGctgccagcaggtcttggggt	8	7	18	8	0	1	1	0	1	1	0	1	3	1	3	1	6	4	4	1	6	1	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:23712332G>A	ENST00000256797.4	-	12	1619	c.1451C>T	c.(1450-1452)gCt>gTt	p.A484V	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3			endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTGAGGCTAGCTGCCAGCAG	0.572																																																	0													85	81	83					16																	23712332		2197	4300	6497	SO:0001583	missense	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000256797.4:c.1451C>T	16.37:g.23712332G>A	ENSP00000256797:p.Ala484Val			Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.A484V	ENST00000256797.4	37	c.1451	CCDS32407.1	16	.	.	.	.	.	.	.	.	.	.	G	9.394	1.076322	0.20227	.	.	ENSG00000134398	ENST00000256797	T	0.59224	0.28	5.25	4.27	0.50696	.	0.344154	0.31020	N	0.008408	T	0.38108	0.1028	N	0.20986	0.625	0.23953	N	0.996362	B;B	0.25719	0.007;0.132	B;B	0.17098	0.004;0.017	T	0.11084	-1.0602	10	0.18710	T	0.47	.	10.3133	0.43721	0.0964:0.0:0.9036:0.0	.	436;436	Q76MJ5;A5YM65	ERN2_HUMAN;.	V	484	ENSP00000256797:A484V	ENSP00000256797:A484V	A	-	2	0	ERN2	23619833	0.960000	0.32886	0.828000	0.32881	0.968000	0.65278	2.305000	0.43664	2.601000	0.87937	0.561000	0.74099	GCT	ERN2	-	NULL	ENSG00000134398		0.572	ERN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434887.1	-	0	46	0	G			23712332	-1	tier1	-	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.585	A	A	23712332	G	A	23712332	3	1	46	1	0	0	0	0	1	0	0	0	5254	971	34	3	1517	3	ERN2	16	23712332	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1417094	23712332	66642421	161	11282											
ZKSCAN2	342357	genome.wustl.edu	37	chr16	25251911	25251911	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttcccattgtcttccTgagatgcattcccttttgcg	6	17	7	11	1	1	2	0	1	1	2	4	3	4	2	3	0	2	1	3	0	0	7			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:25251911T>C	ENST00000328086.7	-	7	2933	c.2130A>G	c.(2128-2130)tcA>tcG	p.S710S	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	710					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		ATTGTCTTCCTGAGATGCATT	0.443																																																	0													116	106	109					16																	25251911		2197	4300	6497	SO:0001819	synonymous_variant	0			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"Zinc fingers, C2H2-type", "-", "-", "-"	25677	protein-coding gene	gene with protein product			"zinc finger protein 694"	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2130A>G	16.37:g.25251911T>C			A1L3B4|Q6ZN77	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S710	ENST00000328086.7	37	c.2130	CCDS32410.1	16																																																																																			ZKSCAN2	-	NULL	ENSG00000155592		0.443	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	-	0	39	0	T	NM_001012981		25251911	-1	tier1	-	no_errors	ENST00000328086	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.890	C	C	25251911	T	C	25251911	2	2	46	1	0	0	0	0	0	0	0	1	17735	1567	55	4		4	ZKSCAN2	16	25251911	Silent	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	1539579	25251911	65102842	162	11283											
NLRC5	84166	genome.wustl.edu	37	chr16	57060578	57060581	+	Frame_Shift_Del	DEL	CCCT	CCCT	-																															tggcatcctgcacctgccgcCccttccttagccacctggcg																										TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	CCCT	CCCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr16:57060578_57060581delCCCT	ENST00000262510.6	+	6	1948_1951	c.1723_1726delCCCT	c.(1723-1728)cccttcfs	p.PF575fs	NLRC5_ENST00000308149.7_Frame_Shift_Del_p.PF575fs|NLRC5_ENST00000539144.1_Frame_Shift_Del_p.PF575fs|NLRC5_ENST00000436936.1_Frame_Shift_Del_p.PF575fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	575					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACCTGCCGCCCCTTCCTTAGCCA	0.632																																																	0																																										SO:0001589	frameshift_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1723_1726delCCCT	16.37:g.57060578_57060581delCCCT	ENSP00000262510:p.Pro575fs		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.P575fs	ENST00000262510.6	37	c.1723_1726	CCDS10773.1	16																																																																																			NLRC5	-	NULL	ENSG00000140853		0.632	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0	35	0	CCCT	NM_032206		57060581	1	tier1		no_errors	ENST00000262510	ensembl	human	known	74_37	frame_shift_del	40.00	9	6	DEL	0.001:0.047:0.060:0.978	-	-	57060581	CCCT	-	57060578	7	5	46	1	0	1	0	1	0	0	0	0	10509	623	22	0	1737	0	NLRC5	16	57060578	Frame_Shift_Del	DEL	CCCT	TCGA-JY-A93F-01A-21D-A37C-09	31808667	57060578	33294175	163	11284											
AKAP10	11216	genome.wustl.edu	37	chr17	19861383	19861383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcgggactatttctactgGctactgtaagtgtagaggaa	12	11	12	6	1	1	1	0	0	1	1	1	3	1	3	0	3	3	3	0	3	7	6			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr17:19861383G>T	ENST00000225737.6	-	4	978	c.821C>A	c.(820-822)gCc>gAc	p.A274D	AKAP10_ENST00000572155.1_5'Flank|AKAP10_ENST00000395536.3_Missense_Mutation_p.A274D	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	274	RGS 1. {ECO:0000255|PROSITE- ProRule:PRU00171}.				blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ATTTCTACTGGCTACTGTAAG	0.418																																																	0													145	143	144					17																	19861383		2203	4300	6503	SO:0001583	missense	0			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.821C>A	17.37:g.19861383G>T	ENSP00000225737:p.Ala274Asp		B2R650|Q96AJ7	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	p.A274D	ENST00000225737.6	37	c.821	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399597	0.25291	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.16743	2.32	6.08	4.08	0.47627	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.214234	0.51477	D	0.000099	T	0.09247	0.0228	N	0.08118	0	0.34276	D	0.681622	B;P;B	0.37781	0.157;0.608;0.213	B;B;B	0.37601	0.091;0.254;0.171	T	0.29458	-1.0011	10	0.30078	T	0.28	-1.5201	11.5352	0.50633	0.0676:0.1254:0.807:0.0	.	274;274;274	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	D	274	ENSP00000225737:A274D	ENSP00000225737:A274D	A	-	2	0	AKAP10	19801975	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	3.360000	0.52299	0.882000	0.36016	0.591000	0.81541	GCC	AKAP10	-	superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000108599		0.418	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	HGNC	protein_coding	OTTHUMT00000132380.2	-	0	75	0	G	NM_007202		19861383	-1	tier1	-	no_errors	ENST00000225737	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	T	T	19861383	G	T	19861383	3	4	46	1	0	0	0	0	1	0	0	0	446	1203	42	3	1215	3	AKAP10	17	19861383	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09		19861383	61333827	164	11285											
CYTSB	92521	genome.wustl.edu	37	chr17	20108050	20108050	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctatgataagagctcttGaggagaagaacaagaacttt	17	9	9	6	0	1	6	0	2	1	4	1	7	1	6	1	1	4	1	1	1	7	4	rs149577639	byFrequency	TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr17:20108050G>T	ENST00000261503.5	+	4	739	c.688G>T	c.(688-690)Gag>Tag	p.E230*	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Nonsense_Mutation_p.E149*|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395525.3_Nonsense_Mutation_p.E149*|SPECC1_ENST00000395527.4_Nonsense_Mutation_p.E230*|SPECC1_ENST00000395530.2_Nonsense_Mutation_p.E149*|SPECC1_ENST00000395529.3_Nonsense_Mutation_p.E230*	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	230					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGAGCTCTTGAGGAGAAGAA	0.478																																																	0													133	147	143					17																	20108050		2203	4300	6503	SO:0001587	stop_gained	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.688G>T	17.37:g.20108050G>T	ENSP00000261503:p.Glu230*		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E230*	ENST00000261503.5	37	c.688	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956963	0.73902	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	.	.	.	5.28	3.05	0.35203	.	0.140929	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-24.8555	12.8269	0.57725	0.0:0.488:0.512:0.0	.	.	.	.	X	230;230;230;149;149;149	.	ENSP00000261503:E230X	E	+	1	0	SPECC1	20048642	1.000000	0.71417	0.942000	0.38095	0.960000	0.62799	3.402000	0.52608	1.340000	0.45581	0.655000	0.94253	GAG	SPECC1	-	NULL	ENSG00000128487		0.478	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1		0	18	0	G	NM_152904		20108050	1			no_errors	ENST00000261503	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.962	T	T	20108050	G	T	20108050	4	4	46	1	0	0	0	0	0	1	0	0	4219	1291	45	3	742	3	CYTSB	17	20108050	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	246667	20108050	61087160	165	11286											
DHX8	1659	genome.wustl.edu	37	chr17	41571170	41571170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccactcacttgtcccttgtCagtgctcctgaagtagagga	8	11	9	13	0	2	2	2	1	0	1	4	3	4	3	3	1	1	2	3	1	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr17:41571170C>T	ENST00000262415.3	+	8	1200	c.1128C>T	c.(1126-1128)gtC>gtT	p.V376V	DHX8_ENST00000540306.1_Silent_p.V376V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	376					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGTCCCTTGTCAGTGCTCCTG	0.517																																					NSCLC(56;1548 1661 49258 49987)												0													148	155	152					17																	41571170		2203	4300	6503	SO:0001819	synonymous_variant	0			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1128C>T	17.37:g.41571170C>T				Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V376	ENST00000262415.3	37	c.1128	CCDS11464.1	17																																																																																			DHX8	-	NULL	ENSG00000067596		0.517	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	-	0	51	0	C			41571170	1	tier1	-	no_errors	ENST00000262415	ensembl	human	known	74_37	silent	34.25	48	25	SNP	1.000	T	T	41571170	C	T	41571170	2	4	46	1	0	0	0	0	0	0	0	1	4529	813	29	3		3	DHX8	17	41571170	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	21463120	41571170	39624040	166	11287											
C17orf58	284018	genome.wustl.edu	37	chr17	65989137	65989137	+	Intron	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataaagtacatatgcagcGtcattcaggtcagtttcaat	13	13	8	7	1	4	0	4	0	0	0	4	0	4	0	0	1	3	4	0	1	6	6			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr17:65989137G>C	ENST00000449250.2	-	2	293				C17orf58_ENST00000536693.1_Missense_Mutation_p.D42E|RP11-855A2.5_ENST00000580729.1_lincRNA|C17orf58_ENST00000334461.7_Missense_Mutation_p.D42E			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58											lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CATATGCAGCGTCATTCAGGT	0.507																																																	0													80	79	80					17																	65989137		1912	4133	6045	SO:0001627	intron_variant	0			AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.103+22C>G	17.37:g.65989137G>C			A8MQV2	Missense_Mutation	SNP	NULL	p.D42E	ENST00000449250.2	37	c.126	CCDS45765.1	17	.	.	.	.	.	.	.	.	.	.	G	7.178	0.589096	0.13812	.	.	ENSG00000186665	ENST00000334461;ENST00000536693	.	.	.	3.02	-0.404	0.12396	.	1.046080	0.07460	N	0.900512	T	0.21468	0.0517	.	.	.	0.09310	N	1	B	0.23377	0.084	B	0.26310	0.068	T	0.29518	-1.0009	8	0.31617	T	0.26	.	2.5676	0.04787	0.2751:0.0:0.4951:0.2299	.	42	Q2M2W7-2	.	E	42	.	ENSP00000334741:D42E	D	-	3	2	C17orf58	63419599	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.020000	0.12525	-0.132000	0.11557	0.542000	0.68232	GAC	C17orf58	-	NULL	ENSG00000186665		0.507	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf58	HGNC	protein_coding	OTTHUMT00000448104.1	-	0	44	0	G	NM_181656		65989137	-1	tier1	-	no_errors	ENST00000334461	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.000	C	C	65989137	G	C	65989137	1	2	46	0	1	0	0	0	0	0	0	0	1872	1136	40	5		5	C17orf58	17	65989137	Intron	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	24417967	65989137	15206073	167	11288											
CYTH1	9267	genome.wustl.edu	37	chr17	76672223	76672223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccgtgctgcgagcatttCgtagaaagggtccctgctga	7	12	12	10	3	0	2	0	1	0	1	3	3	2	2	2	1	4	4	2	1	2	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr17:76672223C>T	ENST00000446868.3	-	14	1217	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	CYTH1_ENST00000585509.1_Missense_Mutation_p.E324K|CYTH1_ENST00000589297.1_Missense_Mutation_p.E324K|CYTH1_ENST00000361101.4_Missense_Mutation_p.E383K|CYTH1_ENST00000591455.1_Missense_Mutation_p.E382K|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000589296.1_Intron			Q15438	CYH1_HUMAN	cytohesin 1	383					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GCGAGCATTTCGTAGAAAGGG	0.567																																																	0													80	60	66					17																	76672223		2203	4300	6503	SO:0001583	missense	0			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"Pleckstrin homology (PH) domain containing"	9501	protein-coding gene	gene with protein product		182115	"pleckstrin homology, Sec7 and coiled-coil domains 1"	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.1147G>A	17.37:g.76672223C>T	ENSP00000389095:p.Glu383Lys		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.E383K	ENST00000446868.3	37	c.1147		17	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781198	0.90282	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763	T;T	0.13420	2.59;2.59	5.08	5.08	0.68730	.	0.179594	0.48286	D	0.000192	T	0.25975	0.0633	M	0.77616	2.38	0.80722	D	1	B	0.30104	0.268	B	0.35655	0.207	T	0.06826	-1.0805	10	0.66056	D	0.02	.	18.4292	0.90619	0.0:1.0:0.0:0.0	.	382	Q15438-2	.	K	383;383;324;324;382	ENSP00000389095:E383K;ENSP00000354398:E383K	ENSP00000262763:E382K	E	-	1	0	CYTH1	74183818	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.659000	0.83766	2.521000	0.84997	0.591000	0.81541	GAA	CYTH1	-	NULL	ENSG00000108669		0.567	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CYTH1	HGNC	protein_coding	OTTHUMT00000317099.1	-	0	24	0	C	NM_004762		76672223	-1	tier1	-	no_errors	ENST00000361101	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T	T	76672223	C	T	76672223	3	4	46	1	0	0	0	0	1	0	0	0	4212	893	31	1	53	1	CYTH1	17	76672223	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	10683086	76672223	4522987	168	11289											
METTL4	64863	genome.wustl.edu	37	chr18	2563854	2563854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaacaacacatcttttaCgcttctaaagggtagatcaa	16	11	6	8	1	3	2	1	1	2	1	3	2	3	2	0	1	3	2	0	1	8	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr18:2563854C>T	ENST00000574538.1	-	3	1176	c.401G>A	c.(400-402)cGt>cAt	p.R134H	METTL4_ENST00000319888.6_Missense_Mutation_p.R134H|RP11-715F3.2_ENST00000583253.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	134					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACATCTTTTACGCTTCTAAAG	0.294																																																	0													125	109	114					18																	2563854		2201	4299	6500	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.401G>A	18.37:g.2563854C>T	ENSP00000458290:p.Arg134His		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.R134H	ENST00000574538.1	37	c.401	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846623	0.71603	.	.	ENSG00000101574	ENST00000319888	T	0.31769	1.48	5.42	2.65	0.31530	.	0.271361	0.31976	N	0.006771	T	0.46852	0.1414	M	0.67953	2.075	0.33202	D	0.552313	D	0.89917	1.0	P	0.61275	0.886	T	0.61753	-0.6998	10	0.72032	D	0.01	-1.8785	10.7252	0.46064	0.0:0.7906:0.0:0.2094	.	134	Q8N3J2	METL4_HUMAN	H	134	ENSP00000320349:R134H	ENSP00000320349:R134H	R	-	2	0	METTL4	2553854	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.760000	0.38430	0.677000	0.31305	0.591000	0.81541	CGT	METTL4	-	NULL	ENSG00000101574		0.294	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3		0	27	0	C	NM_022840		2563854	-1			no_errors	ENST00000574538	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.986	T	T	2563854	C	T	2563854	3	4	46	1	0	0	0	0	1	0	0	0	9540	536	19	1	1045	1	METTL4	18	2563854	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		2563854	75513394	169	11290											
ALPK2	115701	genome.wustl.edu	37	chr18	56202661	56202661	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcaatagttccccttttCtgtgaaacaggaaacacata	13	13	5	10	0	2	1	1	1	2	0	4	2	3	2	2	1	2	1	2	1	5	6			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr18:56202661C>T	ENST00000361673.3	-	5	4971	c.4758G>A	c.(4756-4758)caG>caA	p.Q1586Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1586						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCCCCTTTTCTGTGAAACAG	0.468																																																	0													121	115	117					18																	56202661		2203	4300	6503	SO:0001819	synonymous_variant	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4758G>A	18.37:g.56202661C>T			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.Q1586	ENST00000361673.3	37	c.4758	CCDS11966.2	18																																																																																			ALPK2	-	NULL	ENSG00000198796		0.468	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1		0	24	0	C	NM_052947		56202661	-1			no_errors	ENST00000361673	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.004	T	T	56202661	C	T	56202661	2	4	46	1	0	0	0	0	0	0	0	1	545	912	32	3		3	ALPK2	18	56202661	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	53638807	56202661	21874587	170	11291											
RTTN	25914	genome.wustl.edu	37	chr18	67869157	67869157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtggcggcacttccatctGctggaaattacttttgtctt	6	16	9	10	2	2	0	0	0	2	0	4	1	3	1	1	3	2	2	1	3	2	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr18:67869157G>T	ENST00000255674.6	-	4	746	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	RTTN_ENST00000454359.1_Missense_Mutation_p.Q154K|RTTN_ENST00000437017.1_Missense_Mutation_p.Q154K	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	154					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACTTCCATCTGCTGGAAATTA	0.373																																																	0													102	96	98					18																	67869157		1836	4099	5935	SO:0001583	missense	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.460C>A	18.37:g.67869157G>T	ENSP00000255674:p.Gln154Lys		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q154K	ENST00000255674.6	37	c.460	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262397	0.23051	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.63417	0.7;0.54;-0.04	5.53	4.6	0.57074	Armadillo-type fold (2);	0.252714	0.32357	N	0.006212	T	0.54095	0.1837	L	0.48362	1.52	0.28789	N	0.899431	B;P	0.48694	0.372;0.914	B;B	0.43536	0.121;0.423	T	0.51553	-0.8691	10	0.19590	T	0.45	.	11.9714	0.53065	0.0:0.2672:0.7328:0.0	.	154;154	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	K	154	ENSP00000255674:Q154K;ENSP00000402352:Q154K;ENSP00000399520:Q154K	ENSP00000255674:Q154K	Q	-	1	0	RTTN	66020137	0.456000	0.25744	0.844000	0.33320	0.439000	0.31926	2.935000	0.48963	2.596000	0.87737	0.655000	0.94253	CAG	RTTN	-	superfamily_ARM-type_fold	ENSG00000176225		0.373	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	-	0	72	0	G	NM_173630		67869157	-1	tier1	-	no_errors	ENST00000255674	ensembl	human	known	74_37	missense	41.67	42	30	SNP	0.963	T	T	67869157	G	T	67869157	3	4	46	1	0	0	0	0	1	0	0	0	13782	1328	46	3	6404	3	RTTN	18	67869157	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	11666496	67869157	10208091	171	11292											
CBLN2	147381	genome.wustl.edu	37	chr18	70205937	70205937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacgtggaagctgaagctaTaaatcccttttctcggtgct	9	12	9	11	2	1	1	0	1	1	0	3	2	2	2	2	2	3	3	2	2	5	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr18:70205937T>A	ENST00000269503.4	-	4	1201	c.428A>T	c.(427-429)tAt>tTt	p.Y143F	CBLN2_ENST00000584764.1_Missense_Mutation_p.Y27F|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.Y29F|CBLN2_ENST00000585159.1_Missense_Mutation_p.Y143F	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	143	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCTGAAGCTATAAATCCCTTT	0.403																																																	0													123	116	118					18																	70205937		2203	4300	6503	SO:0001583	missense	0			BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.428A>T	18.37:g.70205937T>A	ENSP00000269503:p.Tyr143Phe		Q53Z56	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Y143F	ENST00000269503.4	37	c.428	CCDS11999.1	18	.	.	.	.	.	.	.	.	.	.	T	16.09	3.023317	0.54683	.	.	ENSG00000141668	ENST00000269503	T	0.72505	-0.66	5.51	5.51	0.81932	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	H	0.97315	3.98	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	D	0.93386	0.6747	10	0.87932	D	0	-7.1343	15.9314	0.79663	0.0:0.0:0.0:1.0	.	143	Q8IUK8	CBLN2_HUMAN	F	143	ENSP00000269503:Y143F	ENSP00000269503:Y143F	Y	-	2	0	CBLN2	68356917	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.990000	0.88215	2.217000	0.71921	0.482000	0.46254	TAT	CBLN2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000141668		0.403	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN2	HGNC	protein_coding	OTTHUMT00000256288.1		0	43	0	T	NM_182511		70205937	-1			no_errors	ENST00000269503	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	A	A	70205937	T	A	70205937	3	1	46	1	0	0	0	0	1	0	0	0	2712	1406	49	5	254	5	CBLN2	18	70205937	Missense_Mutation	SNP	T	TCGA-JY-A93F-01A-21D-A37C-09	2336780	70205937	7871311	172	11293											
ADNP2	22850	genome.wustl.edu	37	chr18	77895502	77895502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaaaactggcagcgtgtGcaccatttctaaagtggatg	12	10	11	8	1	1	1	0	1	1	0	1	2	1	2	1	2	3	2	1	2	4	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr18:77895502G>C	ENST00000262198.4	+	4	2661	c.2206G>C	c.(2206-2208)Gca>Cca	p.A736P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	736					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGCAGCGTGTGCACCATTTCT	0.498																																																	0													156	150	152					18																	77895502		2203	4300	6503	SO:0001583	missense	0			AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	23803	protein-coding gene	gene with protein product			"zinc finger protein 508"	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2206G>C	18.37:g.77895502G>C	ENSP00000262198:p.Ala736Pro		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.A736P	ENST00000262198.4	37	c.2206	CCDS32853.1	18	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266319	0.59540	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000002	T	0.78842	0.4347	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78102	-0.2335	8	.	.	.	-23.6928	18.7205	0.91691	0.0:0.0:1.0:0.0	.	736	Q6IQ32	ADNP2_HUMAN	P	736	.	.	A	+	1	0	ADNP2	75996493	1.000000	0.71417	0.154000	0.22540	0.191000	0.23601	8.445000	0.90326	2.649000	0.89929	0.650000	0.86243	GCA	ADNP2	-	NULL	ENSG00000101544		0.498	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP2	HGNC	protein_coding	OTTHUMT00000418979.1	-	0	42	0	G	NM_014913		77895502	1	tier1	-	no_errors	ENST00000262198	ensembl	human	known	74_37	missense	22.45	36	11	SNP	0.998	C	C	77895502	G	C	77895502	3	2	46	1	0	0	0	0	1	0	0	0	324	1319	46	5	2216	5	ADNP2	18	77895502	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	7689565	77895502	181746	173	11294											
APC2	10297	genome.wustl.edu	37	chr19	1457140	1457140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcgcgcaaggagatgCgcgtcctgcacgtgctggag	6	6	17	12	5	0	1	0	0	0	1	1	3	1	2	2	3	3	3	2	3	1	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:1457140C>G	ENST00000535453.1	+	8	2818	c.1105C>G	c.(1105-1107)Cgc>Ggc	p.R369G	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.R369G			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGAGATGCGCGTCCTGCA	0.726																																																	0													9	10	9					19																	1457140		2174	4254	6428	SO:0001583	missense	0				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1105C>G	19.37:g.1457140C>G	ENSP00000442954:p.Arg369Gly		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.R369G	ENST00000535453.1	37	c.1105	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830019	0.71258	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	T;T	0.63580	-0.05;-0.05	4.36	3.26	0.37387	Armadillo-type fold (1);	0.063982	0.56097	D	0.000028	T	0.75243	0.3823	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.77416	-0.2596	10	0.87932	D	0	-21.9607	9.665	0.39979	0.3458:0.6542:0.0:0.0	.	368;369	O95996-3;O95996	.;APC2_HUMAN	G	369	ENSP00000233607:R369G;ENSP00000442954:R369G	ENSP00000233607:R369G	R	+	1	0	APC2	1408140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.445000	0.35079	2.256000	0.74724	0.561000	0.74099	CGC	APC2	-	superfamily_ARM-type_fold	ENSG00000115266		0.726	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	-	0	17	0	C	NM_005883		1457140	1	tier1	-	no_errors	ENST00000233607	ensembl	human	known	74_37	missense	44.44	5	4	SNP	1.000	G	G	1457140	C	G	1457140	3	3	46	1	0	0	0	0	1	0	0	0	764	768	27	5	1135	5	APC2	19	1457140	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		1457140	57671843	174	11295											
FSD1	79187	genome.wustl.edu	37	chr19	4323073	4323073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcgtggcctaccgcaGcctgggccgcttcgagcaac	5	6	15	15	5	0	0	0	0	0	0	1	1	0	0	4	3	4	3	4	3	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:4323073G>T	ENST00000221856.6	+	11	1277	c.1130G>T	c.(1129-1131)aGc>aTc	p.S377I	STAP2_ENST00000597593.1_5'Flank|FSD1_ENST00000597590.1_Missense_Mutation_p.S377I	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	377	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTACCGCAGCCTGGGCCGC	0.667																																																	0													33	31	32					19																	4323073		2203	4298	6501	SO:0001583	missense	0			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"Fibronectin type III domain containing"	13745	protein-coding gene	gene with protein product		609828	"fibronectin type 3 and SPRY domain containing 1"			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1130G>T	19.37:g.4323073G>T	ENSP00000221856:p.Ser377Ile		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S377I	ENST00000221856.6	37	c.1130	CCDS12127.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288556	0.80914	.	.	ENSG00000105255	ENST00000221856	T	0.67171	-0.25	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.106533	0.64402	D	0.000008	D	0.84229	0.5426	H	0.94886	3.595	0.41814	D	0.989982	D	0.55605	0.972	D	0.65010	0.931	D	0.87780	0.2611	10	0.72032	D	0.01	.	10.8478	0.46753	0.0:0.1923:0.8077:0.0	.	377	Q9BTV5	FSD1_HUMAN	I	377	ENSP00000221856:S377I	ENSP00000221856:S377I	S	+	2	0	FSD1	4274073	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.484000	0.45242	2.097000	0.63578	0.485000	0.47835	AGC	FSD1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000105255		0.667	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD1	HGNC	protein_coding	OTTHUMT00000458091.1	-	0	56	0	G	NM_024333		4323073	1	tier1	-	no_errors	ENST00000221856	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	T	T	4323073	G	T	4323073	3	4	46	1	0	0	0	0	1	0	0	0	6094	971	34	3	1172	3	FSD1	19	4323073	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	2865933	4323073	54805910	175	11296											
SMARCA4	6597	genome.wustl.edu	37	chr19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgccgcctgctgctgaCgggcacaccgctgcagaaca	8	4	11	18	4	0	2	0	1	0	1	0	2	0	2	5	1	4	5	5	1	1	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:11132513C>T	ENST00000429416.3	+	20	3010	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T910M(6)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	7	Substitution - Missense(6)|Unknown(1)	central_nervous_system(6)|lung(1)											88	68	75					19																	11132513		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2729C>T	19.37:g.11132513C>T	ENSP00000395654:p.Thr910Met		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.T910M	ENST00000429416.3	37	c.2729	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061387	0.55432	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998	D	0.98869	1.0765	10	0.87932	D	0	-34.7546	16.1519	0.81629	0.0:1.0:0.0:0.0	.	910;910;910;910;910;130;910;910	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	M	910;910;974;910;910;910;910;910	ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M	ENSP00000343896:T910M	T	+	2	0	SMARCA4	10993513	1.000000	0.71417	0.968000	0.41197	0.009000	0.06853	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	ACG	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000127616		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	29	0	C	NM_003072		11132513	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.999	T	T	11132513	C	T	11132513	3	4	46	1	0	0	0	0	1	0	0	0	14815	536	19	1	2799	1	SMARCA4	19	11132513	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	6809440	11132513	47996470	176	11297											
ZNF333	84449	genome.wustl.edu	37	chr19	14817559	14817559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcctactctgggccaccGcaacccatgggtggccaggg	7	6	14	14	1	1	0	0	0	1	0	1	0	1	0	5	4	3	1	5	4	2	1	rs571042009		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:14817559G>A	ENST00000292530.6	+	7	576	c.485G>A	c.(484-486)cGc>cAc	p.R162H	ZNF333_ENST00000540689.2_Missense_Mutation_p.R162H|ZNF333_ENST00000601134.1_Silent_p.P102P|ZNF333_ENST00000536363.1_Missense_Mutation_p.R53H	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R162H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTGGGCCACCGCAACCCATGG	0.572													G|||	1	0.000199681	0	0	5008	,	,		18225	0		0.001	False		,,,				2504	0				NSCLC(60;75 1281 16985 25154 29885)												1	Substitution - Missense(1)	large_intestine(1)											85	79	81					19																	14817559		2203	4300	6503	SO:0001583	missense	0				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.485G>A	19.37:g.14817559G>A	ENSP00000292530:p.Arg162His		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R162H	ENST00000292530.6	37	c.485	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126210	0.20959	.	.	ENSG00000160961	ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.06933	3.24;5.82;3.31	2.29	-4.58	0.03410	.	.	.	.	.	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	P	0.43287	0.802	B	0.32090	0.14	T	0.39961	-0.9588	9	0.41790	T	0.15	.	5.4512	0.16566	0.0:0.2483:0.506:0.2457	.	162	Q96JL9	ZN333_HUMAN	H	53;162;162	ENSP00000439749:R53H;ENSP00000438130:R162H;ENSP00000292530:R162H	ENSP00000292530:R162H	R	+	2	0	ZNF333	14678559	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.496000	0.06436	-1.048000	0.03238	-1.437000	0.01076	CGC	ZNF333	-	NULL	ENSG00000160961		0.572	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	-	0	31	0	G	NM_032433		14817559	1	tier1	-	no_errors	ENST00000292530	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.000	A	A	14817559	G	A	14817559	3	1	46	1	0	0	0	0	1	0	0	0	17898	1087	38	1	507	1	ZNF333	19	14817559	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	3685046	14817559	44311424	177	11298											
NOTCH3	4854	genome.wustl.edu	37	chr19	15281251	15281251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggtgctgtgctcgcGcttgcgccgggccaccatga	5	7	15	14	4	0	2	0	1	0	1	1	2	0	2	4	2	3	3	4	2	0	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:15281251G>A	ENST00000263388.2	-	27	5080	c.5005C>T	c.(5005-5007)Cgc>Tgc	p.R1669C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1669					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTGTGCTCGCGCTTGCGCCGG	0.677																																																	0													39	45	43					19																	15281251		2203	4299	6502	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5005C>T	19.37:g.15281251G>A	ENSP00000263388:p.Arg1669Cys		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R1669C	ENST00000263388.2	37	c.5005	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955492	0.73902	.	.	ENSG00000074181	ENST00000263388	D	0.85556	-2.0	3.69	3.69	0.42338	.	.	.	.	.	D	0.91818	0.7411	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.92102	0.5689	9	0.87932	D	0	.	8.6299	0.33913	0.0:0.0:0.6333:0.3666	.	1669	Q9UM47	NOTC3_HUMAN	C	1669	ENSP00000263388:R1669C	ENSP00000263388:R1669C	R	-	1	0	NOTCH3	15142251	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.978000	0.40598	1.906000	0.55180	0.491000	0.48974	CGC	NOTCH3	-	pirsf_Notch	ENSG00000074181		0.677	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	23	0	G	NM_000435		15281251	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	40.62	19	13	SNP	1.000	A	A	15281251	G	A	15281251	3	1	46	1	0	0	0	0	1	0	0	0	10589	1087	38	1	1988	1	NOTCH3	19	15281251	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	463692	15281251	43847732	178	11299											
KIAA1683	80726	genome.wustl.edu	37	chr19	18368333	18368333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccacaggtatgacaggtgCgagggctggagcccactagc	9	6	15	11	1	0	1	0	1	0	0	1	3	1	2	2	4	3	2	2	4	2	2	rs548939159		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:18368333C>T	ENST00000600328.3	-	4	3393	c.3200G>A	c.(3199-3201)cGc>cAc	p.R1067H	KIAA1683_ENST00000600359.3_Missense_Mutation_p.R1021H|KIAA1683_ENST00000392413.4_Missense_Mutation_p.R1254H|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1067						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R1067H(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGACAGGTGCGAGGGCTGGA	0.682													C|||	1	0.000199681	0	0	5008	,	,		17258	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	prostate(1)											16	16	16					19																	18368333		2194	4288	6482	SO:0001583	missense	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3200G>A	19.37:g.18368333C>T	ENSP00000470780:p.Arg1067His		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R1254H	ENST00000600328.3	37	c.3761	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018906	0.54576	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000358422;ENST00000411671	T;T;T	0.08807	3.54;3.55;3.05	4.39	3.35	0.38373	.	0.000000	0.34700	N	0.003758	T	0.15522	0.0374	L	0.36672	1.1	0.21499	N	0.999664	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.987	T	0.02184	-1.1199	10	0.46703	T	0.11	-26.4116	7.2834	0.26324	0.0:0.8797:0.0:0.1203	.	1254;1067	E9PDE0;Q9H0B3	.;K1683_HUMAN	H	1254;1067;1021;331;452;681	ENSP00000376213:R1254H;ENSP00000352774:R1067H;ENSP00000404501:R1021H	ENSP00000351198:R452H	R	-	2	0	KIAA1683	18229333	1.000000	0.71417	0.999000	0.59377	0.349000	0.29174	2.094000	0.41719	2.001000	0.58596	0.462000	0.41574	CGC	KIAA1683	-	NULL	ENSG00000130518		0.682	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3		0	22	0	C			18368333	-1			no_errors	ENST00000392413	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.997	T	T	18368333	C	T	18368333	3	4	46	1	0	0	0	0	1	0	0	0	8278	768	27	1	346	1	KIAA1683	19	18368333	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	3087082	18368333	40760650	179	11300											
ZNF30	90075	genome.wustl.edu	37	chr19	35434868	35434868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtatggacagcttactcGacatcagagtattcatactg	11	13	9	8	1	2	1	2	0	0	1	3	3	2	2	0	1	3	3	0	1	4	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:35434868G>A	ENST00000601142.1	+	5	1235	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	ZNF30_ENST00000439785.1_Missense_Mutation_p.R334Q|ZNF30_ENST00000426813.2_Missense_Mutation_p.R252Q|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.R334Q			P17039	ZNF30_HUMAN	zinc finger protein 30	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		CAGCTTACTCGACATCAGAGT	0.433																																																	0													94	100	98					19																	35434868		2203	4300	6503	SO:0001583	missense	0			X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"Zinc fingers, C2H2-type", "-"	13090	protein-coding gene	gene with protein product			"zinc finger protein 30 (KOX 28)"				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.998G>A	19.37:g.35434868G>A	ENSP00000469954:p.Arg333Gln		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R334Q	ENST00000601142.1	37	c.1001	CCDS46045.1	19	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.611831	0.00835	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.36157	1.27;1.27	2.23	-4.45	0.03546	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19685	0.0473	L	0.47190	1.495	0.09310	N	1	B;B	0.24132	0.08;0.098	B;B	0.12156	0.004;0.007	T	0.35325	-0.9793	9	0.10636	T	0.68	.	1.5443	0.02562	0.5063:0.1563:0.1799:0.1575	.	334;333	P17039-2;P17039	.;ZNF30_HUMAN	Q	334;333;252;70	ENSP00000403441:R334Q;ENSP00000416457:R252Q	ENSP00000303889:R333Q	R	+	2	0	ZNF30	40126708	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-6.750000	0.00055	-1.129000	0.02918	-0.490000	0.04691	CGA	ZNF30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000168661		0.433	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	ZNF30	HGNC	protein_coding	OTTHUMT00000464432.1	-	0	48	0	G	NM_194325		35434868	1	tier1	-	no_errors	ENST00000303586	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	A	A	35434868	G	A	35434868	3	1	46	1	0	0	0	0	1	0	0	0	17878	1058	37	1	1015	1	ZNF30	19	35434868	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	17066535	35434868	23694115	180	11301											
RYR1	6261	genome.wustl.edu	37	chr19	39028578	39028578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttccgattcctacaattGctctgtgaggggcacaataa	10	12	9	10	1	1	1	0	1	1	0	3	2	3	1	2	2	2	3	2	2	4	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:39028578G>T	ENST00000359596.3	+	84	11667	c.11667G>T	c.(11665-11667)ttG>ttT	p.L3889F	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.L3884F|RYR1_ENST00000360985.3_Missense_Mutation_p.L3884F			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3889					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCTACAATTGCTCTGTGAGG	0.562																																																	0													140	114	122					19																	39028578		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11667G>T	19.37:g.39028578G>T	ENSP00000352608:p.Leu3889Phe		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L3889F	ENST00000359596.3	37	c.11667	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	g	9.434	1.086193	0.20390	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97620	-4.46;-4.46;-4.46	4.85	3.8	0.43715	RyR/IP3R Homology associated domain (1);	0.000000	0.52532	U	0.000076	D	0.98385	0.9463	M	0.90542	3.125	0.44523	D	0.997479	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.98797	1.0738	10	0.87932	D	0	.	10.0944	0.42466	0.0:0.1491:0.6968:0.1541	.	3884;3884;3889	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	F	3889;3884;3884	ENSP00000352608:L3889F;ENSP00000347667:L3884F;ENSP00000354254:L3884F	ENSP00000347667:L3884F	L	+	3	2	RYR1	43720418	0.997000	0.39634	0.980000	0.43619	0.979000	0.70002	0.158000	0.16422	1.395000	0.46643	0.546000	0.68486	TTG	RYR1	-	pfam_RIH_assoc-dom	ENSG00000196218		0.562	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	43	0	G			39028578	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	37.70	37	23	SNP	1.000	T	T	39028578	G	T	39028578	3	4	46	1	0	0	0	0	1	0	0	0	13813	1310	46	3	12001	3	RYR1	19	39028578	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	3593710	39028578	20100405	181	11302											
BCAM	4059	genome.wustl.edu	37	chr19	45322020	45322020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccactcccctgggcgatgGccccatgctgtcgctcagtt	4	10	10	17	2	1	0	1	0	0	0	4	1	3	0	5	2	1	3	5	2	0	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:45322020G>A	ENST00000270233.6	+	10	1239	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	BCAM_ENST00000589651.1_Missense_Mutation_p.G406D	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	406	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTGGGCGATGGCCCCATGCTG	0.642																																																	0													124	108	113					19																	45322020		2203	4300	6503	SO:0001583	missense	0			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1217G>A	19.37:g.45322020G>A	ENSP00000270233:p.Gly406Asp		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G406D	ENST00000270233.6	37	c.1217	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	13.95	2.389199	0.42410	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.13307	2.6;2.6	4.6	3.56	0.40772	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.12092	0.0294	L	0.35793	1.09	0.26922	N	0.966661	B	0.24618	0.107	B	0.26770	0.073	T	0.17837	-1.0356	9	0.45353	T	0.12	-7.4215	9.0356	0.36284	0.1046:0.0:0.8954:0.0	.	406	P50895	BCAM_HUMAN	D	406	ENSP00000270233:G406D;ENSP00000375817:G406D	ENSP00000270233:G406D	G	+	2	0	BCAM	50013860	0.930000	0.31532	0.401000	0.26359	0.362000	0.29581	2.018000	0.40991	1.078000	0.41014	0.491000	0.48974	GGC	BCAM	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000187244		0.642	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	-	0	35	0	G	NM_005581		45322020	1	tier1	-	no_errors	ENST00000270233	ensembl	human	known	74_37	missense	8.00	45	4	SNP	0.645	A	A	45322020	G	A	45322020	3	1	46	1	0	0	0	0	1	0	0	0	1345	1203	42	3	1255	3	BCAM	19	45322020	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	6293442	45322020	13806963	182	11303											
GEMIN7	79760	genome.wustl.edu	37	chr19	45593410	45593410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcccgtgcctgtgctccGgctgccccggggccctgatg	2	9	13	17	3	0	1	0	1	0	0	2	1	2	1	6	3	3	2	6	3	0	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:45593410G>A	ENST00000270257.4	+	3	285	c.38G>A	c.(37-39)cGg>cAg	p.R13Q	CTB-179K24.3_ENST00000586556.1_RNA|PPP1R37_ENST00000421905.1_5'Flank|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000391951.2_Missense_Mutation_p.R13Q|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R13Q|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R13Q|CTB-179K24.3_ENST00000586744.1_RNA	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	13					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CCTGTGCTCCGGCTGCCCCGG	0.557																																																	0													83	92	89					19																	45593410		2202	4298	6500	SO:0001583	missense	0			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.38G>A	19.37:g.45593410G>A	ENSP00000270257:p.Arg13Gln		Q6IA34	Missense_Mutation	SNP	pfam_SMN_gemin7	p.R13Q	ENST00000270257.4	37	c.38	CCDS12654.1	19	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048857	0.75846	.	.	ENSG00000142252	ENST00000270257;ENST00000391951	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80783	-0.1228	9	0.72032	D	0.01	-1.6605	15.8965	0.79338	0.0:0.0:1.0:0.0	.	13	Q9H840	GEMI7_HUMAN	Q	13	.	ENSP00000270257:R13Q	R	+	2	0	GEMIN7	50285250	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	8.054000	0.89451	2.353000	0.79882	0.549000	0.68633	CGG	GEMIN7	-	NULL	ENSG00000142252		0.557	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN7	HGNC	protein_coding	OTTHUMT00000457533.1	-	0	85	0	G			45593410	1	tier1	-	no_errors	ENST00000270257	ensembl	human	known	74_37	missense	42.86	48	36	SNP	1.000	A	A	45593410	G	A	45593410	3	1	46	1	0	0	0	0	1	0	0	0	6359	1116	39	1	40	1	GEMIN7	19	45593410	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	271390	45593410	13535573	183	11304											
PPP5C	5536	genome.wustl.edu	37	chr19	46857022	46857022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaggactacgagaacGccatcaagttctacagccag	14	5	9	13	2	2	1	1	0	1	1	2	3	2	2	3	1	5	1	3	1	5	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:46857022G>A	ENST00000012443.4	+	2	242	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	47					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTACGAGAACGCCATCAAGTT	0.602																																																	0													80	61	68					19																	46857022		2203	4300	6503	SO:0001583	missense	0				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.139G>A	19.37:g.46857022G>A	ENSP00000012443:p.Ala47Thr		Q16722|Q53XV2	Missense_Mutation	SNP	pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.A47T	ENST00000012443.4	37	c.139	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.158354	0.94686	.	.	ENSG00000011485	ENST00000012443;ENST00000451918	D	0.89270	-2.49	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.96679	0.8916	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.951;0.989	D	0.98104	1.0416	10	0.87932	D	0	-17.1767	16.366	0.83321	0.0:0.0:1.0:0.0	.	47;47	B2R6R6;P53041	.;PPP5_HUMAN	T	47	ENSP00000012443:A47T	ENSP00000012443:A47T	A	+	1	0	PPP5C	51548862	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.977000	0.93446	2.531000	0.85337	0.563000	0.77884	GCC	PPP5C	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000011485		0.602	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2		0	27	0	G	NM_006247		46857022	1			no_errors	ENST00000012443	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	46857022	G	A	46857022	3	1	46	1	0	0	0	0	1	0	0	0	12448	1087	38	1	145	1	PPP5C	19	46857022	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	1263612	46857022	12271961	184	11305											
PRKD2	25865	genome.wustl.edu	37	chr19	47178336	47178336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccacgctgtagcgtttgCgcatcttcacctgcagcagg	6	11	11	13	3	2	0	1	0	1	0	3	0	3	0	2	1	4	6	2	1	1	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:47178336C>T	ENST00000291281.4	-	17	2603	c.2378G>A	c.(2377-2379)cGc>cAc	p.R793H	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.R793H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R803H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R636H|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000600194.1_Missense_Mutation_p.R636H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	793	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GTAGCGTTTGCGCATCTTCAC	0.567																																																	0													96	64	75					19																	47178336		2203	4300	6503	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2378G>A	19.37:g.47178336C>T	ENSP00000291281:p.Arg793His		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R793H	ENST00000291281.4	37	c.2378	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.566053	0.96540	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65732	-0.17;-0.17	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.74344	0.3704	L	0.41961	1.31	0.58432	D	0.999999	D;D;D	0.89917	0.989;0.997;1.0	P;D;D	0.83275	0.768;0.96;0.996	T	0.75869	-0.3165	10	0.72032	D	0.01	-45.1278	18.2924	0.90135	0.0:1.0:0.0:0.0	.	803;278;793	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	H	793	ENSP00000291281:R793H;ENSP00000393978:R793H	ENSP00000291281:R793H	R	-	2	0	PRKD2	51870176	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.762000	0.85270	2.686000	0.91538	0.655000	0.94253	CGC	PRKD2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105287		0.567	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1		0	22	0	C	NM_016457		47178336	-1			no_errors	ENST00000291281	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	47178336	C	T	47178336	3	4	46	1	0	0	0	0	1	0	0	0	12561	768	27	1	266	1	PRKD2	19	47178336	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	321314	47178336	11950647	185	11306											
LAIR2	3904	genome.wustl.edu	37	chr19	55020248	55020248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccctgtttacagaaaGctctggaggcccggactccc	7	8	10	16	1	1	1	0	0	1	1	2	3	2	3	5	3	3	2	5	3	2	2	rs12949		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:55020248G>C	ENST00000301202.2	+	4	490	c.368G>C	c.(367-369)aGc>aCc	p.S123T	LAIR2_ENST00000351841.2_Intron	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	123						extracellular region (GO:0005576)		p.S123T(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		TTTACAGAAAGCTCTGGAGGC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											54	63	60					19																	55020248		2127	4276	6403	SO:0001583	missense	0			AF013250	CCDS12897.1, CCDS12898.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167618	ENSG00000167618		"Leukocyte-associated Ig like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6478	protein-coding gene	gene with protein product		602993	"leukocyte-associated Ig-like receptor 2"			9285412	Standard	XM_005277264		Approved	CD306	uc002qgc.3	Q6ISS4	OTTHUMG00000065697	ENST00000301202.2:c.368G>C	19.37:g.55020248G>C	ENSP00000301202:p.Ser123Thr		Q6PEZ4	Missense_Mutation	SNP	smart_Ig_sub	p.S123T	ENST00000301202.2	37	c.368	CCDS12897.1	19	97	0.044413919413919416	28	0.056910569105691054	13	0.03591160220994475	7	0.012237762237762238	49	0.06464379947229551	C	0.004	-2.301275	0.00243	.	.	ENSG00000167618	ENST00000301202	T	0.00523	6.83	1.4	-1.19	0.09585	.	.	.	.	.	T	0.00039	0.0001	N	0.02539	-0.55	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.23154	-1.0196	9	0.14252	T	0.57	.	0.4992	0.00576	0.2475:0.3218:0.2448:0.1859	rs3177589;rs17343215	123	Q6ISS4	LAIR2_HUMAN	T	123	ENSP00000301202:S123T	ENSP00000301202:S123T	S	+	2	0	LAIR2	59712060	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.594000	0.02094	-0.745000	0.04772	-0.980000	0.02579	AGC	LAIR2	-	NULL	ENSG00000167618		0.627	LAIR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR2	HGNC	protein_coding	OTTHUMT00000140801.1		0	49	0	G			55020248	1			no_errors	ENST00000301202	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.001	C	C	55020248	G	C	55020248	3	2	46	1	0	0	0	0	1	0	0	0	8631	971	34	5	382	5	LAIR2	19	55020248	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	7841912	55020248	4108735	186	11307											
ZNF581	51545	genome.wustl.edu	37	chr19	56156448	56156448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggtgcactctggggaaCgcccgtttcagtgtccacac	6	8	13	14	3	2	0	1	0	1	0	3	1	3	1	3	3	2	2	3	3	1	1	rs201594382		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:56156448C>T	ENST00000587252.1	+	2	784	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	ZNF581_ENST00000588537.1_Missense_Mutation_p.R171C|CCDC106_ENST00000308964.3_5'Flank|ZNF581_ENST00000270451.5_Missense_Mutation_p.R171C			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCTGGGGAACGCCCGTTTCA	0.692																																																	0													54	58	57					19																	56156448		2203	4300	6503	SO:0001583	missense	0			AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"Zinc fingers, C2H2-type"	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.511C>T	19.37:g.56156448C>T	ENSP00000466047:p.Arg171Cys		B2RDM6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R171C	ENST00000587252.1	37	c.511	CCDS12932.1	19	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337786	0.60963	.	.	ENSG00000171425	ENST00000270451	T	0.20463	2.07	3.28	2.18	0.27775	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46833	0.1413	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.44034	-0.9354	9	0.87932	D	0	.	5.6613	0.17670	0.1912:0.6985:0.0:0.1103	.	171	Q9P0T4	ZN581_HUMAN	C	171	ENSP00000270451:R171C	ENSP00000270451:R171C	R	+	1	0	ZNF581	60848260	0.648000	0.27313	0.714000	0.30535	0.873000	0.50193	0.909000	0.28558	0.700000	0.31782	0.407000	0.27541	CGC	ZNF581	-	pfscan_Znf_C2H2	ENSG00000171425		0.692	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF581	HGNC	protein_coding	OTTHUMT00000453430.1	-	0	80	0	C	NM_016535		56156448	1	tier1	-	no_errors	ENST00000270451	ensembl	human	known	74_37	missense	27.52	79	30	SNP	0.993	T	T	56156448	C	T	56156448	3	4	46	1	0	0	0	0	1	0	0	0	18061	536	19	1	513	1	ZNF581	19	56156448	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	1136200	56156448	2972535	187	11308											
ZNF667	63934	genome.wustl.edu	37	chr19	56952917	56952917	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtgtgagagatattcGgtggctgaaggcttttccac	8	13	13	7	2	0	3	0	2	0	1	3	4	1	3	1	3	0	2	1	3	2	4			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:56952917G>T	ENST00000504904.3	-	7	2166	c.1447C>A	c.(1447-1449)Cga>Aga	p.R483R	ZNF667_ENST00000342634.3_Silent_p.R611R|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Silent_p.R483R			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGAGATATTCGGTGGCTGAAG	0.443																																																	0													80	76	78					19																	56952917		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1447C>A	19.37:g.56952917G>T			B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R611	ENST00000504904.3	37	c.1831	CCDS12944.1	19																																																																																			ZNF667	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198046		0.443	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	-	0	36	0	G	NM_022103		56952917	-1	tier1	-	no_errors	ENST00000342634	ensembl	human	known	74_37	silent	28.79	46	19	SNP	0.000	T	T	56952917	G	T	56952917	2	4	46	1	0	0	0	0	0	0	0	1	18122	1124	39	2		2	ZNF667	19	56952917	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	796469	56952917	2176066	188	11309											
ZNF134	7693	genome.wustl.edu	37	chr19	58132263	58132263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccacactggagaaatgcCttataagtgcaatgaatgtg	15	10	9	7	0	0	2	0	1	0	1	1	3	1	2	2	1	2	1	2	1	6	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr19:58132263C>T	ENST00000396161.5	+	3	1086	c.776C>T	c.(775-777)cCt>cTt	p.P259L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGAAATGCCTTATAAGTGC	0.413																																																	0													71	77	75					19																	58132263		2201	4297	6498	SO:0001583	missense	0			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.776C>T	19.37:g.58132263C>T	ENSP00000379464:p.Pro259Leu		Q9Y4B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P259L	ENST00000396161.5	37	c.776	CCDS42638.1	19	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433803	0.83776	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.56444	0.46	4.29	4.29	0.51040	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67097	0.2857	L	0.52266	1.64	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.70360	-0.4893	9	0.66056	D	0.02	.	15.975	0.80057	0.0:1.0:0.0:0.0	.	259	P52741	ZN134_HUMAN	L	326;179;259	ENSP00000379464:P259L	ENSP00000379464:P259L	P	+	2	0	ZNF134	62824075	0.107000	0.21998	1.000000	0.80357	0.993000	0.82548	1.451000	0.35145	2.370000	0.80446	0.561000	0.74099	CCT	ZNF134	-	pfscan_Znf_C2H2	ENSG00000213762		0.413	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF134	HGNC	protein_coding	OTTHUMT00000466808.1	-	0	29	0	C	NM_003435		58132263	1	tier1	-	no_errors	ENST00000396161	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	T	T	58132263	C	T	58132263	3	4	46	1	0	0	0	0	1	0	0	0	17772	681	24	3	782	3	ZNF134	19	58132263	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	1179346	58132263	996720	189	11310											
ZNF335	63925	genome.wustl.edu	37	chr20	44578137	44578137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctacctggatgtgatggCcttcagggaccacaacatat	10	9	11	11	0	1	1	1	1	0	0	1	3	1	3	4	4	2	0	4	4	3	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr20:44578137C>T	ENST00000322927.2	-	25	3840	c.3740G>A	c.(3739-3741)gGc>gAc	p.G1247D	ZNF335_ENST00000426788.1_Missense_Mutation_p.G1092D	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1247	Gln-rich.				brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GATGTGATGGCCTTCAGGGAC	0.602																																																	0													65	47	53					20																	44578137		2203	4300	6503	SO:0001583	missense	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3740G>A	20.37:g.44578137C>T	ENSP00000325326:p.Gly1247Asp		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1247D	ENST00000322927.2	37	c.3740	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022947	0.75275	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.38401	1.14;1.14	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.52056	-0.8626	10	0.72032	D	0.01	-27.5442	17.5268	0.87802	0.0:1.0:0.0:0.0	.	1092;1247	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	D	1247;1024;1092	ENSP00000325326:G1247D;ENSP00000397098:G1092D	ENSP00000243961:G1024D	G	-	2	0	ZNF335	44011544	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.204000	0.77872	2.630000	0.89119	0.561000	0.74099	GGC	ZNF335	-	NULL	ENSG00000198026		0.602	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0	38	0	C	NM_022095		44578137	-1	tier1	-	no_errors	ENST00000322927	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	44578137	C	T	44578137	3	4	46	1	0	0	0	0	1	0	0	0	17900	739	26	3	304	3	ZNF335	20	44578137	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		44578137	18447383	190	11311											
OGFR	11054	genome.wustl.edu	37	chr20	61444312	61444312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgccaacccctgggaGccagggtggccgacaaggtg	7	4	15	15	2	0	0	0	0	0	0	0	2	0	1	7	4	3	0	7	4	2	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr20:61444312G>T	ENST00000290291.6	+	7	1370	c.1345G>T	c.(1345-1347)Gcc>Tcc	p.A449S	OGFR_ENST00000370461.1_Missense_Mutation_p.A397S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	449					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					ACCCCTGGGAGCCAGGGTGGC	0.701																																																	0													27	31	30					20																	61444312		2196	4296	6492	SO:0001583	missense	0			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1345G>T	20.37:g.61444312G>T	ENSP00000290291:p.Ala449Ser		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.A449S	ENST00000290291.6	37	c.1345	CCDS13504.1	20	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340748	0.60963	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.35236	1.78;1.32	4.99	-1.68	0.08212	.	0.606011	0.14663	N	0.305846	T	0.21103	0.0508	L	0.51422	1.61	0.09310	N	1	B;B;B	0.30824	0.296;0.296;0.296	B;B;B	0.19946	0.027;0.027;0.027	T	0.10590	-1.0623	10	0.30078	T	0.28	-19.3112	1.9705	0.03405	0.1372:0.3641:0.17:0.3287	.	449;432;449	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	S	449;449;304;397	ENSP00000290291:A449S;ENSP00000359491:A397S	ENSP00000290291:A449S	A	+	1	0	OGFR	60914757	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.207000	0.17395	0.086000	0.17137	0.561000	0.74099	GCC	OGFR	-	NULL	ENSG00000060491		0.701	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	HGNC	protein_coding	OTTHUMT00000080067.1	-	0	31	0	G			61444312	1	tier1	-	no_errors	ENST00000290291	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	T	T	61444312	G	T	61444312	3	4	46	1	0	0	0	0	1	0	0	0	10882	971	34	3	1371	3	OGFR	20	61444312	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	16866175	61444312	1581208	191	11312											
NCAM2	4685	genome.wustl.edu	37	chr21	22658646	22658646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaaacaaggagaagatgCagaagtggtttgccgagtta	15	9	12	5	1	1	3	1	0	0	3	1	5	1	3	1	2	3	3	1	2	5	3			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr21:22658646C>A	ENST00000400546.1	+	4	644	c.395C>A	c.(394-396)gCa>gAa	p.A132E	NCAM2_ENST00000284894.7_Intron|NCAM2_ENST00000535285.1_Missense_Mutation_p.A157E|NCAM2_ENST00000486367.1_3'UTR	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	132	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGAGAAGATGCAGAAGTGGTT	0.393																																																	0													120	113	115					21																	22658646		2000	4183	6183	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.395C>A	21.37:g.22658646C>A	ENSP00000383392:p.Ala132Glu		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.A132E	ENST00000400546.1	37	c.395	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998088	0.93227	.	.	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.32988	1.43;1.43	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70798	0.3265	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.82376	-0.0488	10	0.72032	D	0.01	-11.4161	17.4781	0.87666	0.0:1.0:0.0:0.0	.	157;132	B7Z841;O15394	.;NCAM2_HUMAN	E	132;157	ENSP00000383392:A132E;ENSP00000441887:A157E	ENSP00000383392:A132E	A	+	2	0	NCAM2	21580517	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.545000	0.67237	2.466000	0.83321	0.561000	0.74099	GCA	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Neural_cell_adh	ENSG00000154654		0.393	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1		0	29	0	C	NM_004540		22658646	1			no_errors	ENST00000400546	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A	A	22658646	C	A	22658646	3	1	46	1	0	0	0	0	1	0	0	0	10242	710	25	3	409	3	NCAM2	21	22658646	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		22658646	25471249	192	11313											
APOL3	80833	genome.wustl.edu	37	chr22	36537664	36537664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgcataacttccttaaataCcttcaatcggtcaatgctgg	12	12	6	11	2	2	0	2	0	0	0	4	0	3	0	2	2	3	2	2	2	6	5			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chr22:36537664C>T	ENST00000349314.2	-	3	830	c.793G>A	c.(793-795)Gta>Ata	p.V265I	APOL3_ENST00000397287.2_Missense_Mutation_p.V65I|APOL3_ENST00000487423.1_5'Flank|APOL3_ENST00000424878.2_Missense_Mutation_p.V65I|APOL3_ENST00000361710.2_Missense_Mutation_p.V65I|APOL3_ENST00000397293.2_Missense_Mutation_p.V194I	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	265					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCCTTAAATACCTTCAATCGG	0.463																																																	0													93	86	88					22																	36537664		2203	4300	6503	SO:0001583	missense	0			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.793G>A	22.37:g.36537664C>T	ENSP00000344577:p.Val265Ile		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.V265I	ENST00000349314.2	37	c.793	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244859	0.22796	.	.	ENSG00000128284	ENST00000397293;ENST00000424878;ENST00000349314;ENST00000361710;ENST00000397287	T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87	4.01	-2.46	0.06461	.	2.581820	0.01293	N	0.010064	T	0.04497	0.0123	L	0.43923	1.385	0.09310	N	1	B;B	0.34349	0.45;0.395	B;B	0.36418	0.224;0.143	T	0.35176	-0.9799	10	0.37606	T	0.19	.	4.25	0.10689	0.0:0.3777:0.3256:0.2967	.	265;194	O95236;O95236-2	APOL3_HUMAN;.	I	194;65;265;65;65	ENSP00000380461:V194I;ENSP00000415779:V65I;ENSP00000344577:V265I;ENSP00000355164:V65I;ENSP00000380456:V65I	ENSP00000344577:V265I	V	-	1	0	APOL3	34867610	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.734000	0.01848	-0.422000	0.07405	0.478000	0.44815	GTA	APOL3	-	pfam_ApoL	ENSG00000128284		0.463	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	-	0	23	0	C	NM_145641		36537664	-1	tier1	-	no_errors	ENST00000349314	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	T	T	36537664	C	T	36537664	3	4	46	1	0	0	0	0	1	0	0	0	807	507	18	3	419	3	APOL3	22	36537664	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		36537664	14766902	193	11314											
PHKA2	5256	genome.wustl.edu	37	chrX	18915365	18915365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctcctgcgcagccaCtggccctgccgctcacccca	5	7	8	21	2	2	0	1	0	1	0	3	0	2	0	7	1	4	2	7	1	0	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:18915365C>T	ENST00000379942.4	-	30	3863	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q	PHKA2-AS1_ENST00000452900.1_RNA|PHKA2-AS1_ENST00000439295.1_RNA|PHKA2_ENST00000481718.1_5'Flank	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1066	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCGCAGCCACTGGCCCTGCC	0.627																																																	0													51	43	46					X																	18915365		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3198G>A	X.37:g.18915365C>T			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.Q1066	ENST00000379942.4	37	c.3198	CCDS14190.1	X																																																																																			PHKA2	-	NULL	ENSG00000044446		0.627	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1		0	54	0	C	NM_000292		18915365	-1			no_errors	ENST00000379942	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	18915365	C	T	18915365	2	4	46	1	0	0	0	0	0	0	0	1	11883	564	20	3		3	PHKA2	23	18915365	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09		18915365	136355195	194	11315											
DYNLT3	6990	genome.wustl.edu	37	chrX	37700359	37700359	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccactgcacaggtcaCtgcaaataaagtcacagaat	15	7	8	11	0	2	1	2	0	0	1	2	2	2	2	1	2	2	2	1	2	4	1			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:37700359C>A	ENST00000378578.4	-	4	323		c.e4-1		TM4SF2_ENST00000465127.1_Intron|DYNLT3_ENST00000378581.3_Splice_Site|DYNLT3_ENST00000432389.2_Splice_Site	NM_006520.2	NP_006511.1	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)|transport (GO:0006810)	cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	motor activity (GO:0003774)			endometrium(1)|lung(1)|skin(1)	3						GCACAGGTCACTGCAAATAAA	0.448																																																	0													72	65	67					X																	37700359		2201	4300	6501	SO:0001630	splice_region_variant	0			U02556	CCDS14243.1	Xp21	2013-01-18	2005-11-25	2005-11-25	ENSG00000165169	ENSG00000165169		"Cytoplasmic dyneins"	11694	protein-coding gene	gene with protein product		300302	"t-complex-associated-testis-expressed 1-like"	TCTE1L		8004092	Standard	NM_006520		Approved	TCTEX1L	uc004dds.3	P51808	OTTHUMG00000033172	ENST00000378578.4:c.197-1G>T	X.37:g.37700359C>A			Q6ICS3	Splice_Site	SNP	-	e4-1	ENST00000378578.4	37	c.197-1	CCDS14243.1	X	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277631	0.80692	.	.	ENSG00000165169	ENST00000378581;ENST00000378578;ENST00000432389	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9156	0.79512	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DYNLT3	37585303	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.789000	0.75110	2.560000	0.86352	0.594000	0.82650	.	DYNLT3	-	-	ENSG00000165169		0.448	DYNLT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLT3	HGNC	protein_coding	OTTHUMT00000080876.1	-	0	59	0	C	NM_006520	Intron	37700359	-1	tier1	-	no_errors	ENST00000378581	ensembl	human	known	74_37	splice_site	6.45	58	4	SNP	1.000	A	A	37700359	C	A	37700359	5	1	46	1	0	0	0	0	0	0	1	0	4867	579	20	3	162	3	DYNLT3	23	37700359	Splice_Site	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	18784994	37700359	117570201	195	11316											
CHST7	56548	genome.wustl.edu	37	chrX	46434207	46434207	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttttccgcgacccgAgggcggtgcacaactcgcgc	6	7	13	15	6	0	0	0	0	0	0	2	2	1	0	2	2	4	3	2	2	1	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:46434207A>C	ENST00000276055.3	+	1	989	c.841A>C	c.(841-843)Agg>Cgg	p.R281R		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	281					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CCGCGACCCGAGGGCGGTGCA	0.662																																																	0													59	41	47					X																	46434207		2202	4299	6501	SO:0001819	synonymous_variant	0			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"Sulfotransferases, membrane-bound"	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.841A>C	X.37:g.46434207A>C			O75667	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.R281	ENST00000276055.3	37	c.841	CCDS14268.1	X																																																																																			CHST7	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000147119		0.662	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST7	HGNC	protein_coding	OTTHUMT00000056362.1	-	0	15	0	A	NM_019886		46434207	1	tier1	-	no_errors	ENST00000276055	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.399	C	C	46434207	A	C	46434207	2	2	46	1	0	0	0	0	0	0	0	1	3416	295	11	4		4	CHST7	23	46434207	Silent	SNP	A	TCGA-JY-A93F-01A-21D-A37C-09	8733848	46434207	108836353	196	11317											
RBM10	8241	genome.wustl.edu	37	chrX	47040705	47040705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagggctatggcaacaGccagggcacagagtcttccc	10	6	14	11	0	1	2	0	1	1	1	2	3	2	3	2	4	2	3	2	4	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:47040705G>A	ENST00000377604.3	+	13	2082	c.1340G>A	c.(1339-1341)aGc>aAc	p.S447N	RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Missense_Mutation_p.S369N|RBM10_ENST00000345781.6_Missense_Mutation_p.S370N	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	447					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TATGGCAACAGCCAGGGCACA	0.627																																					Melanoma(171;120 2705 19495 39241)												0													50	36	41					X																	47040705		2191	4288	6479	SO:0001583	missense	0			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"Zinc fingers, RAN-binding domain containing", "G patch domain containing", "RNA binding motif (RRM) containing"	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1340G>A	X.37:g.47040705G>A	ENSP00000366829:p.Ser447Asn		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S447N	ENST00000377604.3	37	c.1340	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517915	0.27211	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.18810	2.86;2.19;2.45	4.79	3.92	0.45320	.	0.609700	0.16680	N	0.203992	T	0.13457	0.0326	N	0.22421	0.69	0.29295	N	0.86909	B;B;B;B;B	0.30542	0.015;0.013;0.284;0.13;0.004	B;B;B;B;B	0.29598	0.008;0.008;0.104;0.055;0.008	T	0.14254	-1.0479	10	0.23891	T	0.37	-18.9917	10.0261	0.42072	0.0:0.1996:0.8004:0.0	.	370;512;446;369;447	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	N	447;369;370	ENSP00000366829:S447N;ENSP00000328848:S369N;ENSP00000329659:S370N	ENSP00000328848:S369N	S	+	2	0	RBM10	46925649	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.596000	0.46205	1.136000	0.42199	0.597000	0.82753	AGC	RBM10	-	NULL	ENSG00000182872		0.627	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	-	0	48	0	G	NM_005676		47040705	1	tier1	-	no_errors	ENST00000377604	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	47040705	G	A	47040705	3	1	46	1	0	0	0	0	1	0	0	0	13156	971	34	3	1386	3	RBM10	23	47040705	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	606498	47040705	108229855	197	11318											
AR	367	genome.wustl.edu	37	chrX	66765195	66765195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcagcagcagca	14	0	13	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	13	0	0	0	0			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:66765195G>A	ENST00000374690.3	+	1	731	c.207G>A	c.(205-207)caG>caA	p.Q69Q	AR_ENST00000504326.1_Silent_p.Q69Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.Q69Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	69	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcagcagcagcagc	0.677									Androgen Insensitivity Syndrome																																								0													4	7	6					X																	66765195		1415	2820	4235	SO:0001819	synonymous_variant	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.207G>A	X.37:g.66765195G>A			A2RUN2|B1AKD7|Q9UD95	Silent	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q69	ENST00000374690.3	37	c.207	CCDS14387.1	X																																																																																			AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.677	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0	50	0	G	NM_000044		66765195	1			no_errors	ENST00000374690	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.995	A	A	66765195	G	A	66765195	2	1	46	1	0	0	0	0	0	0	0	1	836	962	34	3		3	AR	23	66765195	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	19724490	66765195	88505365	198	11319											
KIAA2022	340533	genome.wustl.edu	37	chrX	73960195	73960195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgttttcccattgcttttGctcacacccttgattgacct	5	17	6	13	0	1	2	1	2	0	0	2	2	2	2	3	0	2	4	3	0	0	7			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:73960195G>T	ENST00000055682.6	-	3	4808	c.4197C>A	c.(4195-4197)agC>agA	p.S1399R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1399					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATTGCTTTTGCTCACACCCT	0.448																																																	0													187	153	164					X																	73960195		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4197C>A	X.37:g.73960195G>T	ENSP00000055682:p.Ser1399Arg		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.S1399R	ENST00000055682.6	37	c.4197	CCDS35337.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.950|9.950	1.219777|1.219777	0.22373|0.22373	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000424929|ENST00000373468;ENST00000055682	.|T;T	.|0.36157	.|1.27;1.27	5.36|5.36	3.3|3.3	0.37823|0.37823	.|.	.|0.399117	.|0.28736	.|N	.|0.014305	T|T	0.21468|0.21468	0.0517|0.0517	L|L	0.29908|0.29908	0.895|0.895	0.30890|0.30890	N|N	0.730499|0.730499	.|P	.|0.36909	.|0.573	.|B	.|0.33521	.|0.165	T|T	0.22452|0.22452	-1.0216|-1.0216	5|10	.|0.72032	.|D	.|0.01	-3.997|-3.997	3.8799|3.8799	0.09074|0.09074	0.3646:0.1794:0.456:0.0|0.3646:0.1794:0.456:0.0	.|.	.|1399	.|Q5QGS0	.|K2022_HUMAN	K|R	1|1399	.|ENSP00000362567:S1399R;ENSP00000055682:S1399R	.|ENSP00000055682:S1399R	Q|S	-|-	1|3	0|2	KIAA2022|KIAA2022	73876920|73876920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	1.764000|1.764000	0.38471|0.38471	0.881000|0.881000	0.35993|0.35993	0.544000|0.544000	0.68410|0.68410	CAA|AGC	KIAA2022	-	NULL	ENSG00000050030		0.448	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	40	0	G	NM_001008537		73960195	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	36.11	46	26	SNP	1.000	T	T	73960195	G	T	73960195	3	4	46	1	0	0	0	0	1	0	0	0	8296	1310	46	3	361	3	KIAA2022	23	73960195	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	7195000	73960195	81310365	199	11320											
IRS4	8471	genome.wustl.edu	37	chrX	107976167	107976167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggcgagcgcggaggcCgcagctacaacttggctgag	7	5	17	12	5	0	1	0	1	0	0	0	3	0	2	1	4	5	4	1	4	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:107976167C>T	ENST00000372129.2	-	1	3484	c.3408G>A	c.(3406-3408)gcG>gcA	p.A1136A	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1136	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGCGGAGGCCGCAGCTACAA	0.642																																																	0													30	35	34					X																	107976167		2196	4283	6479	SO:0001819	synonymous_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3408G>A	X.37:g.107976167C>T				Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A1136	ENST00000372129.2	37	c.3408	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.642	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	-	0	42	0	C	NM_003604		107976167	-1	tier1	-	no_errors	ENST00000372129	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.019	T	T	107976167	C	T	107976167	2	4	46	1	0	0	0	0	0	0	0	1	7869	639	23	1		1	IRS4	23	107976167	Silent	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	34015972	107976167	47294393	200	11321											
MAGEC1	9947	genome.wustl.edu	37	chrX	140993740	140993740	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattttccagagttcccctGagagtactcaaagtcctttt	9	15	7	10	0	1	2	1	1	0	2	4	3	4	2	4	0	1	3	4	0	3	7			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:140993740G>T	ENST00000285879.4	+	4	836	c.550G>T	c.(550-552)Gag>Tag	p.E184*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	184										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTCCCCTGAGAGTACTCA	0.488										HNSCC(15;0.026)																																							0													80	91	87					X																	140993740		2203	4299	6502	SO:0001587	stop_gained	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.550G>T	X.37:g.140993740G>T	ENSP00000285879:p.Glu184*		A0PK03|O75451|Q8TCV4	Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E184*	ENST00000285879.4	37	c.550	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	16.21	3.059274	0.55325	.	.	ENSG00000155495	ENST00000285879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	2.1454	0.03786	0.0:0.3284:0.3471:0.3245	.	.	.	.	X	184	.	ENSP00000285879:E184X	E	+	1	0	MAGEC1	140821406	0.055000	0.20627	0.033000	0.17914	0.033000	0.12548	0.593000	0.23999	0.054000	0.16065	0.054000	0.15206	GAG	MAGEC1	-	NULL	ENSG00000155495		0.488	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	151	0	G	NM_005462		140993740	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	nonsense	22.26	213	61	SNP	0.100	T	T	140993740	G	T	140993740	4	4	46	1	0	0	0	0	0	1	0	0	9218	1291	45	3	556	3	MAGEC1	23	140993740	Nonsense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	33017573	140993740	14276820	201	11322											
BCAP31	10134	genome.wustl.edu	37	chrX	152967491	152967491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgctcctccagcaagcGgtcgtactccttggtgaggc	5	10	13	13	3	0	1	0	1	0	0	4	1	3	1	3	3	5	3	3	3	2	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:152967491G>A	ENST00000345046.6	-	7	1080	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	BCAP31_ENST00000441714.1_Missense_Mutation_p.R225C|BCAP31_ENST00000458587.2_Missense_Mutation_p.R292C	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	225					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCAAGCGGTCGTACTCC	0.577																																																	0													50	42	45					X																	152967491		2203	4300	6503	SO:0001583	missense	0			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.673C>T	X.37:g.152967491G>A	ENSP00000343458:p.Arg225Cys		B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	pfam_Bap31	p.R292C	ENST00000345046.6	37	c.874	CCDS14727.1	X	.	.	.	.	.	.	.	.	.	.	g	16.61	3.169899	0.57584	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587	T;T;T	0.30448	1.53;1.53;1.53	5.38	5.38	0.77491	.	0.053124	0.85682	D	0.000000	T	0.58821	0.2149	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	T	0.65319	-0.6197	10	0.87932	D	0	-5.5695	12.5291	0.56104	0.0:0.0:0.8329:0.1671	.	225;292	P51572;B3KQ79	BAP31_HUMAN;.	C	225;225;292;292	ENSP00000405417:R225C;ENSP00000343458:R225C;ENSP00000392330:R292C	ENSP00000343458:R225C	R	-	1	0	BCAP31	152620685	1.000000	0.71417	0.998000	0.56505	0.514000	0.34195	4.104000	0.57790	2.254000	0.74563	0.525000	0.51046	CGC	BCAP31	-	NULL	ENSG00000185825		0.577	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	HGNC	protein_coding	OTTHUMT00000061071.1	-	0	76	0	G	NM_005745		152967491	-1	tier1	-	no_errors	ENST00000458587	ensembl	human	known	74_37	missense	36.04	71	40	SNP	1.000	A	A	152967491	G	A	152967491	3	1	46	1	0	0	0	0	1	0	0	0	1348	1116	39	1	75	1	BCAP31	23	152967491	Missense_Mutation	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	11973751	152967491	2303069	202	11323											
MECP2	4204	genome.wustl.edu	37	chrX	153295833	153295833	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtcagctaactctctcGgtcacgggcgtccggctgtc	7	10	11	13	4	3	0	2	0	1	0	7	0	4	0	1	3	2	2	1	3	3	2	rs76895094		TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:153295833G>A	ENST00000303391.6	-	4	1695	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	MECP2_ENST00000453960.2_Silent_p.T494T|MECP2_ENST00000460227.1_5'Flank	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	482					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAACTCTCTCGGTCACGGGCG	0.522																																																	0													169	151	157					X																	153295833		2203	4300	6503	SO:0001819	synonymous_variant	0			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"mental retardation, X-linked 16", "mental retardation, X-linked 79", "Rett syndrome", "methyl CpG binding protein 2 (Rett syndrome)"	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.1446C>T	X.37:g.153295833G>A			O15233|Q6QHH9|Q7Z384	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd	p.T482	ENST00000303391.6	37	c.1446	CCDS14741.1	X																																																																																			MECP2	-	pirsf_Me_CpG-bd_MeCP2	ENSG00000169057		0.522	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECP2	HGNC	protein_coding	OTTHUMT00000061144.1	-	0	53	0	G	NM_004992		153295833	-1	tier1	rs76895094	no_errors	ENST00000303391	ensembl	human	known	74_37	silent	34.21	50	26	SNP	1.000	A	A	153295833	G	A	153295833	2	1	46	1	0	0	0	0	0	0	0	1	9461	1103	39	1		1	MECP2	23	153295833	Silent	SNP	G	TCGA-JY-A93F-01A-21D-A37C-09	328342	153295833	1974727	203	11324											
GAB3	139716	genome.wustl.edu	37	chrX	153925438	153925438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggtcctggtaagagatgCatgttcccggatgatcgaga	9	9	15	8	3	0	3	0	1	0	2	3	6	2	4	2	3	1	3	2	3	1	2			TCGA-JY-A93F-01A-21D-A37C-09	TCGA-JY-A93F-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	def53512-fa87-4775-8ed4-9c1ceaea2a3d	09ac5fc9-0dc3-4174-87ac-5207067025d0	g.chrX:153925438C>T	ENST00000369575.3	-	7	1424	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	GAB3_ENST00000424127.2_Missense_Mutation_p.A466T|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	465					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAGAGATGCATGTTCCCGG	0.532																																																	0													147	123	131					X																	153925438		2203	4300	6503	SO:0001583	missense	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1393G>A	X.37:g.153925438C>T	ENSP00000358588:p.Ala465Thr		A6NHF8|E9PB44	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A466T	ENST00000369575.3	37	c.1396	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	C	1.869	-0.460774	0.04508	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.22945	1.93;1.93;1.93	5.1	-4.32	0.03688	.	0.563413	0.19097	N	0.122806	T	0.12944	0.0314	L	0.31752	0.955	0.09310	N	1	B;B;B	0.15141	0.012;0.004;0.012	B;B;B	0.15052	0.012;0.009;0.012	T	0.20472	-1.0274	10	0.22706	T	0.39	-17.99	7.2992	0.26411	0.1075:0.397:0.0:0.4955	.	466;466;465	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	T	465;466;466	ENSP00000358588:A465T;ENSP00000358581:A466T;ENSP00000399588:A466T	ENSP00000358581:A466T	A	-	1	0	GAB3	153578632	0.035000	0.19736	0.000000	0.03702	0.121000	0.20230	-0.054000	0.11826	-0.966000	0.03587	-0.191000	0.12829	GCA	GAB3	-	NULL	ENSG00000160219		0.532	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	-	0	47	0	C	NM_001081573		153925438	-1	tier1	-	no_errors	ENST00000424127	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.003	T	T	153925438	C	T	153925438	3	4	46	1	0	0	0	0	1	0	0	0	6174	710	25	3	383	3	GAB3	23	153925438	Missense_Mutation	SNP	C	TCGA-JY-A93F-01A-21D-A37C-09	629605	153925438	1345122	204	11325											
RERE	473	genome.wustl.edu	37	chr1	8420002	8420002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcatgaagtacaggtctGtccgggcacacgagttgtag	10	8	15	8	2	1	1	0	1	1	0	2	3	2	1	1	3	1	5	1	3	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:8420002G>T	ENST00000337907.3	-	20	4074	c.3440C>A	c.(3439-3441)aCa>aAa	p.T1147K	RERE_ENST00000400908.2_Missense_Mutation_p.T1147K|RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.T879K|RERE_ENST00000476556.1_Missense_Mutation_p.T593K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1147					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTACAGGTCTGTCCGGGCACA	0.617																																																	0													59	62	61					1																	8420002		2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3440C>A	1.37:g.8420002G>T	ENSP00000338629:p.Thr1147Lys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.T1147K	ENST00000337907.3	37	c.3440	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875934	0.91664	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.67345	-0.26;-0.25;0.97;-0.26	5.43	5.43	0.79202	.	.	.	.	.	T	0.80417	0.4619	M	0.72894	2.215	0.58432	D	0.999999	D	0.60160	0.987	D	0.63192	0.912	T	0.82478	-0.0437	9	0.87932	D	0	-8.9315	18.2223	0.89905	0.0:0.0:1.0:0.0	.	1147	Q9P2R6	RERE_HUMAN	K	1147;879;593;1147	ENSP00000338629:T1147K;ENSP00000366684:T879K;ENSP00000422246:T593K;ENSP00000383700:T1147K	ENSP00000338629:T1147K	T	-	2	0	RERE	8342589	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.782000	0.99034	2.532000	0.85374	0.561000	0.74099	ACA	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.617	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1		0	50	0	G			8420002	-1			no_errors	ENST00000337907	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	8420002	G	T	8420002	3	4	47	1	0	0	0	0	1	0	0	0	13276	1377	48	3	1280	3	RERE	1	8420002	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		8420002	240830619	1	11326											
MFN2	9927	genome.wustl.edu	37	chr1	12061834	12061834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatcctcctagggggcgctCtcgcagaaggctttcaagtg	8	9	12	12	2	2	1	1	0	1	1	5	1	4	1	2	3	0	3	2	3	4	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:12061834C>G	ENST00000235329.5	+	10	1301	c.979C>G	c.(979-981)Ctc>Gtc	p.L327V	MFN2_ENST00000444836.1_Missense_Mutation_p.L327V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	327	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGGGGCGCTCTCGCAGAAGG	0.483											OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													218	230	226					1																	12061834		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.979C>G	1.37:g.12061834C>G	ENSP00000235329:p.Leu327Val	677	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.L327V	ENST00000235329.5	37	c.979	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302572	0.60195	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.98120	-4.73;-4.73	5.34	4.41	0.53225	.	0.000000	0.64402	D	0.000001	D	0.96491	0.8855	L	0.55103	1.725	0.58432	D	0.999997	P	0.51933	0.949	P	0.52189	0.692	D	0.94034	0.7303	10	0.32370	T	0.25	-17.096	7.3927	0.26919	0.0:0.7753:0.0:0.2247	.	327	O95140	MFN2_HUMAN	V	327;327;25	ENSP00000416338:L327V;ENSP00000235329:L327V	ENSP00000235329:L327V	L	+	1	0	MFN2	11984421	0.996000	0.38824	1.000000	0.80357	0.973000	0.67179	1.456000	0.35201	2.653000	0.90120	0.655000	0.94253	CTC	MFN2	-	superfamily_P-loop_NTPase	ENSG00000116688		0.483	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2		0	24	0	C	NM_014874		12061834	1			no_errors	ENST00000235329	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.997	G	G	12061834	C	G	12061834	3	3	47	1	0	0	0	0	1	0	0	0	9562	913	32	5	1009	5	MFN2	1	12061834	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	3641832	12061834	237188787	2	11327											
PQLC2	54896	genome.wustl.edu	37	chr1	19653743	19653743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctccggaagtccacccaggGgatctcctactctctgttcg	6	10	9	16	2	2	0	0	0	2	0	7	2	4	2	5	3	1	1	5	3	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:19653743G>T	ENST00000375153.3	+	7	1281	c.641G>T	c.(640-642)gGg>gTg	p.G214V	PQLC2_ENST00000400548.2_Missense_Mutation_p.G149V|PQLC2_ENST00000375155.3_Missense_Mutation_p.G214V	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	214	PQ-loop 2.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCCAGGGGATCTCCTAC	0.602																																																	0													70	69	69					1																	19653743		2203	4300	6503	SO:0001583	missense	0			BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.641G>T	1.37:g.19653743G>T	ENSP00000364295:p.Gly214Val		B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,smart_CTNS	p.G214V	ENST00000375153.3	37	c.641	CCDS195.2	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021281	0.75275	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548	D;D;D	0.99511	-6.05;-6.05;-6.05	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97241	0.9891	10	0.87932	D	0	-13.6572	17.2096	0.86927	0.0:0.0:1.0:0.0	.	214	Q6ZP29	PQLC2_HUMAN	V	214;214;149	ENSP00000364297:G214V;ENSP00000364295:G214V;ENSP00000383395:G149V	ENSP00000364295:G214V	G	+	2	0	PQLC2	19526330	1.000000	0.71417	0.971000	0.41717	0.457000	0.32468	9.558000	0.98132	2.414000	0.81942	0.484000	0.47621	GGG	PQLC2	-	smart_CTNS	ENSG00000040487		0.602	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PQLC2	HGNC	protein_coding	OTTHUMT00000007255.1		0	47	0	G	NM_017765		19653743	1			no_errors	ENST00000375153	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	19653743	G	T	19653743	3	4	47	1	0	0	0	0	1	0	0	0	12461	1232	43	3	663	3	PQLC2	1	19653743	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	7591909	19653743	229596878	3	11328											
EIF2C4	192670	genome.wustl.edu	37	chr1	36297117	36297117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtctgcaactgaaataccCccatcttccctgtctccaag	10	11	5	15	0	3	1	0	1	3	0	5	1	4	1	4	0	3	1	4	0	5	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:36297117C>A	ENST00000373210.3	+	8	1183	c.938C>A	c.(937-939)cCc>cAc	p.P313H		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	313	PAZ. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										CTGAAATACCCCCATCTTCCC	0.388																																																	0													108	109	108					1																	36297117		2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.938C>A	1.37:g.36297117C>A	ENSP00000362306:p.Pro313His		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.P313H	ENST00000373210.3	37	c.938	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510430	0.85389	.	.	ENSG00000134698	ENST00000373210	T	0.36157	1.27	5.55	5.55	0.83447	Argonaute/Dicer protein, PAZ (4);	0.048111	0.85682	D	0.000000	T	0.75140	0.3809	H	0.97340	3.985	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.84571	0.0655	10	0.87932	D	0	-4.7179	19.5182	0.95174	0.0:1.0:0.0:0.0	.	313	Q9HCK5	AGO4_HUMAN	H	313	ENSP00000362306:P313H	ENSP00000362306:P313H	P	+	2	0	EIF2C4	36069704	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.603000	0.88011	0.655000	0.94253	CCC	AGO4	-	pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom	ENSG00000134698		0.388	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3		0	87	0	C	NM_017629		36297117	1			no_errors	ENST00000373210	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	36297117	C	A	36297117	3	1	47	1	0	0	0	0	1	0	0	0	5022	623	22	3	968	3	EIF2C4	1	36297117	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	16643374	36297117	212953504	4	11329											
ADPRHL2	54936	genome.wustl.edu	37	chr1	36558863	36558863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccattgccaccatggctgGggccattgctggtgcctact	6	10	11	14	0	0	0	0	0	0	0	0	0	0	0	5	4	4	2	5	4	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:36558863G>T	ENST00000373178.4	+	6	998	c.968G>T	c.(967-969)gGg>gTg	p.G323V		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	323						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				ACCATGGCTGGGGCCATTGCT	0.552																																																	0													121	123	122					1																	36558863		2203	4300	6503	SO:0001583	missense	0			AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.968G>T	1.37:g.36558863G>T	ENSP00000362273:p.Gly323Val		Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	p.G323V	ENST00000373178.4	37	c.968	CCDS402.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424413	0.83667	.	.	ENSG00000116863	ENST00000373178;ENST00000540867;ENST00000543954	T	0.74209	-0.82	5.48	5.48	0.80851	.	0.052078	0.85682	D	0.000000	D	0.90027	0.6886	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92487	0.5997	10	0.72032	D	0.01	-15.0065	14.9046	0.70709	0.0:0.1428:0.8571:0.0	.	323	Q9NX46	ARHL2_HUMAN	V	323;243;169	ENSP00000362273:G323V	ENSP00000362273:G323V	G	+	2	0	ADPRHL2	36331450	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.840000	0.86819	2.563000	0.86464	0.563000	0.77884	GGG	ADPRHL2	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	ENSG00000116863		0.552	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL2	HGNC	protein_coding	OTTHUMT00000020199.1	-	0	40	0	G	NM_017825		36558863	1	tier1	-	no_errors	ENST00000373178	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	36558863	G	T	36558863	3	4	47	1	0	0	0	0	1	0	0	0	333	1232	43	3	990	3	ADPRHL2	1	36558863	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	261746	36558863	212691758	5	11330											
ZNF642	339559	genome.wustl.edu	37	chr1	40961561	40961561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcatatgaatgcaacCgctgtggaaaagcctatagg	15	8	11	7	1	0	2	0	2	0	0	0	3	0	3	2	2	4	3	2	2	8	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:40961561C>A	ENST00000372706.1	+	6	2417	c.1411C>A	c.(1411-1413)Cgc>Agc	p.R471S	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.R471S			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TGAATGCAACCGCTGTGGAAA	0.393																																																	0													76	74	75					1																	40961561		2203	4300	6503	SO:0001583	missense	0			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1411C>A	1.37:g.40961561C>A	ENSP00000361791:p.Arg471Ser		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R471S	ENST00000372706.1	37	c.1411	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915707	0.52546	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.14893	2.47;2.47	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000732	T	0.15478	0.0373	N	0.10874	0.06	0.09310	N	1	D	0.58268	0.982	P	0.53722	0.733	T	0.06092	-1.0846	10	0.72032	D	0.01	-12.0743	10.9555	0.47356	0.0:0.8111:0.1889:0.0	.	471	Q49AA0	ZN642_HUMAN	S	471	ENSP00000361791:R471S;ENSP00000361790:R471S	ENSP00000361790:R471S	R	+	1	0	ZNF642	40734148	0.000000	0.05858	0.998000	0.56505	0.973000	0.67179	0.329000	0.19698	2.786000	0.95864	0.561000	0.74099	CGC	ZFP69	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187815		0.393	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZFP69	HGNC	protein_coding	OTTHUMT00000019082.1		0	48	0	C	NM_198494		40961561	1			no_errors	ENST00000372705	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.131	A	A	40961561	C	A	40961561	3	1	47	1	0	0	0	0	1	0	0	0	18106	652	23	2	1429	2	ZNF642	1	40961561	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	4402698	40961561	208289060	6	11331											
IPP	3652	genome.wustl.edu	37	chr1	46179999	46179999	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaatagatgcagtcattGagtgcagccacaccaagata	16	7	9	9	0	1	4	1	1	0	3	1	4	1	4	2	0	3	2	2	0	4	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:46179999G>T	ENST00000396478.3	-	8	1551	c.1449C>A	c.(1447-1449)ctC>ctA	p.L483L	IPP_ENST00000495072.1_5'Flank	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	483						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TGCAGTCATTGAGTGCAGCCA	0.428																																																	0													121	105	110					1																	46179999		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1449C>A	1.37:g.46179999G>T			A2A6V4|D3DQ11|Q8N5C3	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L483	ENST00000396478.3	37	c.1449	CCDS30702.1	1																																																																																			IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.428	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3		0	54	0	G	NM_005897		46179999	-1			no_errors	ENST00000396478	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	T	T	46179999	G	T	46179999	2	4	47	1	0	0	0	0	0	0	0	1	7827	1277	45	3		3	IPP	1	46179999	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	5218438	46179999	203070622	7	11332											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52991514	52991514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttctgacttcatctGataactggatgctttttctg	7	20	6	8	0	4	2	1	2	3	0	4	3	4	3	0	1	3	1	0	1	2	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:52991514G>T	ENST00000371544.3	-	2	701	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.Q147K|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Q147K|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	147					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GACTTCATCTGATAACTGGAT	0.393																																																	0													188	192	191					1																	52991514		2203	4300	6503	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.439C>A	1.37:g.52991514G>T	ENSP00000360599:p.Gln147Lys		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q147K	ENST00000371544.3	37	c.439	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	G	8.378	0.836887	0.16891	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.46063	1.04;1.04;0.88	4.82	3.82	0.43975	.	1.674850	0.03007	N	0.148880	T	0.41627	0.1167	L	0.56769	1.78	0.36650	D	0.877321	B;B;P;B	0.42871	0.031;0.372;0.792;0.001	B;B;B;B	0.35039	0.017;0.114;0.194;0.002	T	0.50996	-0.8761	10	0.24483	T	0.36	.	12.9535	0.58413	0.0:0.0:0.8383:0.1617	.	147;147;147;147	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	K	147	ENSP00000257177:Q147K;ENSP00000360599:Q147K;ENSP00000433486:Q147K	ENSP00000257177:Q147K	Q	-	1	0	ZCCHC11	52764102	1.000000	0.71417	0.990000	0.47175	0.012000	0.07955	4.088000	0.57678	2.607000	0.88179	0.655000	0.94253	CAG	ZCCHC11	-	NULL	ENSG00000134744		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0	41	0	G	XM_038288		52991514	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.965	T	T	52991514	G	T	52991514	3	4	47	1	0	0	0	0	1	0	0	0	17628	1299	45	3	4614	3	ZCCHC11	1	52991514	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	6811515	52991514	196259107	8	11333											
USP24	23358	genome.wustl.edu	37	chr1	55599820	55599820	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcaagagcagaagcttccGtactcgtagagttatcctga	12	11	9	9	2	1	4	1	1	0	3	4	4	3	4	2	0	3	5	2	0	6	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:55599820G>T	ENST00000294383.6	-	30	3303	c.3304C>A	c.(3304-3306)Cgg>Agg	p.R1102R	USP24_ENST00000407756.1_Silent_p.R942R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1102					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGAAGCTTCCGTACTCGTAGA	0.328																																																	0													47	45	45					1																	55599820		1831	4087	5918	SO:0001819	synonymous_variant	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3304C>A	1.37:g.55599820G>T			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.R942	ENST00000294383.6	37	c.2824	CCDS44154.2	1																																																																																			USP24	-	NULL	ENSG00000162402		0.328	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2		0	55	0	G			55599820	-1			no_errors	ENST00000407756	ensembl	human	known	74_37	silent	6.45	29	2	SNP	1.000	T	T	55599820	G	T	55599820	2	4	47	1	0	0	0	0	0	0	0	1	17104	1144	40	2		2	USP24	1	55599820	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2608306	55599820	193650801	9	11334											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74715180	74715180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagtcaatttaaattacCgcactgaaaatgggctgtct	14	12	8	7	1	2	1	1	1	1	0	2	1	2	1	1	1	1	3	1	1	8	4	rs79045456		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:74715180C>T	ENST00000370899.3	+	5	527	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R164C|FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164C	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTTAAATTACCGCACTGAAAA	0.333																																																	0													148	152	150					1																	74715180		2202	4300	6502	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.490C>T	1.37:g.74715180C>T	ENSP00000359936:p.Arg164Cys			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R177C	ENST00000370899.3	37	c.529		1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976370	0.92982	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	5.83	5.83	0.93111	Ankyrin repeat-containing domain (3);	0.054702	0.64402	D	0.000001	T	0.25791	0.0628	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.925;0.984;0.931;0.967	T	0.01639	-1.1306	10	0.66056	D	0.02	.	19.7289	0.96175	0.0:1.0:0.0:0.0	.	63;164;164;164	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	C	164;164;164;164;63	ENSP00000359936:R164C;ENSP00000359932:R164C;ENSP00000450895:R164C;ENSP00000359928:R164C;ENSP00000322251:R63C	ENSP00000322251:R63C	R	+	1	0	RP11-653A5.2;AC093158.1	74487768	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.811000	0.55620	2.770000	0.95276	0.655000	0.94253	CGC	FPGT-TNNI3K	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000259030		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	-	0	40	0	C			74715180	1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	T	T	74715180	C	T	74715180	3	4	47	1	0	0	0	0	1	0	0	0	16376	652	23	1	552	1	TNNI3K	1	74715180	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	19115360	74715180	174535441	10	11335											
ZNHIT6	54680	genome.wustl.edu	37	chr1	86173818	86173818	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctcctttatccctgtcagCcctgtcccctcctctccgcc	3	13	4	21	1	3	0	1	0	2	0	8	0	6	0	8	0	1	0	8	0	1	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:86173818C>T	ENST00000370574.3	-	1	283	c.150G>A	c.(148-150)ggG>ggA	p.G50G	ZNHIT6_ENST00000431532.2_Silent_p.G50G			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	50	Glu-rich.				box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TCCCTGTCAGCCCTGTCCCCT	0.582																																																	0													201	182	188					1																	86173818		2203	4300	6503	SO:0001819	synonymous_variant	0			AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"Zinc fingers, HIT-type"	26089	protein-coding gene	gene with protein product	"box C/D snoRNA essential 1 homolog (S. cerevisiae)"		"chromosome 1 open reading frame 181", "zinc finger, HIT type 6"	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.150G>A	1.37:g.86173818C>T			B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Silent	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.G50	ENST00000370574.3	37	c.150	CCDS707.1	1																																																																																			ZNHIT6	-	NULL	ENSG00000117174		0.582	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT6	HGNC	protein_coding	OTTHUMT00000029186.1		0	42	0	C	NM_017953		86173818	-1			no_errors	ENST00000370574	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.008	T	T	86173818	C	T	86173818	2	4	47	1	0	0	0	0	0	0	0	1	18257	726	26	3		3	ZNHIT6	1	86173818	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	11458638	86173818	163076803	11	11336											
GPSM2	29899	genome.wustl.edu	37	chr1	109465146	109465146	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcttacaagaaaagaactgCcatacagcttcaacaacaac	18	7	5	11	0	1	2	1	0	0	2	1	2	1	2	1	0	9	2	1	0	9	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:109465146C>A	ENST00000406462.2	+	14	2321	c.1548C>A	c.(1546-1548)tgC>tgA	p.C516*	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Nonsense_Mutation_p.C516*			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	516					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)	p.C509C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAAAGAACTGCCATACAGCTT	0.378																																																	1	Substitution - coding silent(1)	large_intestine(1)											162	161	161					1																	109465146		2203	4300	6503	SO:0001587	stop_gained	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"Tetratricopeptide (TTC) repeat domain containing"	29501	protein-coding gene	gene with protein product		609245	"G-protein signalling modulator 2 (AGS3-like, C. elegans)", "deafness, autosomal recessive 82"	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1548C>A	1.37:g.109465146C>A	ENSP00000385510:p.Cys516*		Q5T1N8|Q6IBL7|Q8N0Z5	Nonsense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C516*	ENST00000406462.2	37	c.1548	CCDS792.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.105962|7.105962	0.98066|0.98066	.|.	.|.	ENSG00000121957|ENSG00000121957	ENST00000441735|ENST00000406462;ENST00000264126	.|.	.|.	.|.	6.08|6.08	-2.98|-2.98	0.05513|0.05513	.|.	.|0.512115	.|0.23642	.|N	.|0.046013	T|.	0.13927|.	0.0337|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12218|.	-1.0556|.	3|.	.|0.40728	.|T	.|0.16	-25.0317|-25.0317	2.661|2.661	0.05027|0.05027	0.1576:0.2643:0.0977:0.4804|0.1576:0.2643:0.0977:0.4804	.|.	.|.	.|.	.|.	D|X	106|516	.|.	.|ENSP00000264126:C516X	A|C	+|+	2|3	0|2	GPSM2|GPSM2	109266669|109266669	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.393000|-0.393000	0.07305|0.07305	-0.514000|-0.514000	0.06488|0.06488	0.655000|0.655000	0.94253|0.94253	GCC|TGC	GPSM2	-	NULL	ENSG00000121957		0.378	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	-	0	92	0	C	NM_013296		109465146	1	tier1	-	no_errors	ENST00000264126	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	0.000	A	A	109465146	C	A	109465146	4	1	47	1	0	0	0	0	0	1	0	0	6762	747	26	3	1594	3	GPSM2	1	109465146	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	23291328	109465146	139785475	12	11337											
CSF1	1435	genome.wustl.edu	37	chr1	110466455	110466455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggagccaggctctcccagGatctcatcactgcgccccca	7	6	9	19	2	3	0	2	0	2	0	5	2	3	2	5	3	2	1	5	3	0	0	rs149423163	byFrequency	TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:110466455G>T	ENST00000329608.6	+	6	1603	c.1212G>T	c.(1210-1212)agG>agT	p.R404S	CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.R404S|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	404					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCTCTCCCAGGATCTCATCAC	0.662																																																	0													43	52	49					1																	110466455		2203	4300	6503	SO:0001583	missense	0			BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1212G>T	1.37:g.110466455G>T	ENSP00000327513:p.Arg404Ser		A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1	p.R404S	ENST00000329608.6	37	c.1212	CCDS816.1	1	.	.	.	.	.	.	.	.	.	.	G	3.984	-0.005773	0.07773	.	.	ENSG00000184371	ENST00000329608;ENST00000369802	T;T	0.11604	2.76;2.76	4.98	-0.784	0.10954	.	2.113090	0.02201	N	0.062295	T	0.02083	0.0065	L	0.51422	1.61	0.09310	N	0.999999	B	0.33777	0.425	B	0.31812	0.136	T	0.31916	-0.9926	10	0.07482	T	0.82	.	0.2984	0.00269	0.2746:0.1386:0.2853:0.3015	.	404	P09603	CSF1_HUMAN	S	404	ENSP00000327513:R404S;ENSP00000358817:R404S	ENSP00000327513:R404S	R	+	3	2	CSF1	110267978	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.026000	0.13599	0.197000	0.20387	-0.373000	0.07131	AGG	CSF1	-	pfam_MCSF-1,pirsf_MCSF-1	ENSG00000184371		0.662	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1	HGNC	protein_coding	OTTHUMT00000032208.1		0	53	0	G	NM_000757		110466455	1			no_errors	ENST00000329608	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T	T	110466455	G	T	110466455	3	4	47	1	0	0	0	0	1	0	0	0	3940	1165	41	3	1234	3	CSF1	1	110466455	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1001309	110466455	138784166	13	11338											
TRIM33	51592	genome.wustl.edu	37	chr1	114967322	114967322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgatgggcttgaaaaGctccacagttcatgttgcct	9	13	9	10	0	3	2	2	2	1	0	4	2	4	2	2	1	2	4	2	1	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:114967322G>T	ENST00000358465.2	-	10	1834	c.1751C>A	c.(1750-1752)gCt>gAt	p.A584D	TRIM33_ENST00000369543.2_Missense_Mutation_p.A584D|TRIM33_ENST00000450349.2_Missense_Mutation_p.A192D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	584					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTTGAAAAGCTCCACAGTT	0.433			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0													128	111	117					1																	114967322		2203	4300	6503	SO:0001583	missense	0			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1751C>A	1.37:g.114967322G>T	ENSP00000351250:p.Ala584Asp		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.A584D	ENST00000358465.2	37	c.1751	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.21|19.21	3.783872|3.783872	0.70222|0.70222	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.75821|.	-0.85;-0.73;-0.97|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.417760|.	0.29646|.	N|.	0.011575|.	T|T	0.39835|0.39835	0.1093|0.1093	N|N	0.14661|0.14661	0.345|0.345	0.53688|0.53688	D|D	0.999976|0.999976	P;P;B;B|.	0.35433|.	0.501;0.501;0.403;0.281|.	B;B;B;B|.	0.36289|.	0.154;0.058;0.221;0.11|.	T|T	0.33752|0.33752	-0.9856|-0.9856	10|5	0.44086|.	T|.	0.13|.	-6.529|-6.529	19.6568|19.6568	0.95845|0.95845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	192;192;584;584|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	D|I	584;584;192|321	ENSP00000351250:A584D;ENSP00000358556:A584D;ENSP00000412077:A192D|.	ENSP00000351250:A584D|.	A|L	-|-	2|1	0|0	TRIM33|TRIM33	114768845|114768845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.105000|5.105000	0.64591|0.64591	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GCT|CTT	TRIM33	-	NULL	ENSG00000197323		0.433	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	-	0	39	0	G	NM_015906		114967322	-1	tier1	-	no_errors	ENST00000358465	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	114967322	G	T	114967322	3	4	47	1	0	0	0	0	1	0	0	0	16555	971	34	3	1676	3	TRIM33	1	114967322	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4500867	114967322	134283299	14	11339											
SYCP1	6847	genome.wustl.edu	37	chr1	115398163	115398163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgcggtgaaacctcaGaccctgggaggcgattccac	8	8	13	12	2	2	2	1	1	1	1	3	4	3	3	3	3	2	0	3	3	1	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:115398163G>T	ENST00000369522.3	+	2	318	c.78G>T	c.(76-78)caG>caT	p.Q26H	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q26H	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	26	Asp/Glu-rich (acidic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAACCTCAGACCCTGGGAG	0.418																																																	0													76	75	76					1																	115398163		2203	4300	6503	SO:0001583	missense	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.78G>T	1.37:g.115398163G>T	ENSP00000358535:p.Gln26His		O14963|Q5VXJ6	Missense_Mutation	SNP	pfam_SCP-1	p.Q26H	ENST00000369522.3	37	c.78	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050592	0.55218	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.54071	1.17;0.59;1.17	5.16	3.11	0.35812	.	0.138830	0.50627	N	0.000118	T	0.20861	0.0502	L	0.34521	1.04	0.39490	D	0.968036	B;B	0.24618	0.107;0.107	B;B	0.18263	0.021;0.021	T	0.13335	-1.0513	10	0.72032	D	0.01	-1.0436	5.6334	0.17524	0.0778:0.1411:0.6352:0.1459	.	26;26	B7ZLS9;Q15431	.;SYCP1_HUMAN	H	26	ENSP00000358535:Q26H;ENSP00000410011:Q26H;ENSP00000358531:Q26H	ENSP00000358531:Q26H	Q	+	3	2	SYCP1	115199686	0.784000	0.28713	0.984000	0.44739	0.559000	0.35586	0.755000	0.26405	1.129000	0.42072	0.561000	0.74099	CAG	SYCP1	-	NULL	ENSG00000198765		0.418	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	-	0	89	0	G	NM_003176		115398163	1	tier1	-	no_errors	ENST00000369518	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.996	T	T	115398163	G	T	115398163	3	4	47	1	0	0	0	0	1	0	0	0	15478	933	33	3	80	3	SYCP1	1	115398163	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	430841	115398163	133852458	15	11340											
ITGA10	8515	genome.wustl.edu	37	chr1	145527655	145527655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgaacatcacccacgccTattcccagggccaccagaag	12	5	9	15	1	1	2	1	1	0	1	2	3	2	3	5	2	1	0	5	2	3	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:145527655T>C	ENST00000369304.3	+	2	270	c.95T>C	c.(94-96)cTa>cCa	p.L32P	ITGA10_ENST00000538811.1_Missense_Mutation_p.Y7H|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	32					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACCCACGCCTATTCCCAGGG	0.527																																																	0													133	130	131					1																	145527655		2203	4300	6503	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.95T>C	1.37:g.145527655T>C	ENSP00000358310:p.Leu32Pro		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L32P	ENST00000369304.3	37	c.95	CCDS918.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.00|14.00	2.403815|2.403815	0.42613|0.42613	.|.	.|.	ENSG00000143127|ENSG00000143127	ENST00000369304|ENST00000543043;ENST00000538811	T|T	0.72835|0.57107	-0.69|0.42	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.193193|.	0.34906|.	N|.	0.003591|.	T|T	0.35653|0.35653	0.0939|0.0939	L|L	0.60455|0.60455	1.87|1.87	0.22656|0.22656	N|N	0.998883|0.998883	P;P|B	0.51537|0.31351	0.773;0.946|0.32	P;P|B	0.51777|0.34138	0.594;0.679|0.176	T|T	0.39702|0.39702	-0.9601|-0.9601	10|9	0.62326|0.87932	D|D	0.03|0	.|.	11.0549|11.0549	0.47911|0.47911	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	32;32|7	O75578;O75578-2|F5GY13	ITA10_HUMAN;.|.	P|H	32|7	ENSP00000358310:L32P|ENSP00000440011:Y7H	ENSP00000358310:L32P|ENSP00000440011:Y7H	L|Y	+|+	2|1	0|0	ITGA10|ITGA10	144239012|144239012	0.999000|0.999000	0.42202|0.42202	0.871000|0.871000	0.34182|0.34182	0.917000|0.917000	0.54804|0.54804	5.444000|5.444000	0.66587|0.66587	2.110000|2.110000	0.64415|0.64415	0.533000|0.533000	0.62120|0.62120	CTA|TAT	ITGA10	-	NULL	ENSG00000143127		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	-	0	43	0	T	NM_003637		145527655	1	tier1	-	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.879	C	C	145527655	T	C	145527655	3	2	47	1	0	0	0	0	1	0	0	0	7900	1522	53	4	101	4	ITGA10	1	145527655	Missense_Mutation	SNP	T	TCGA-KH-A6WC-01A-11D-A33E-09	30129492	145527655	103722966	16	11341											
FDPS	2224	genome.wustl.edu	37	chr1	155279838	155279838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttctacttagagccCtttgctcctccctcagaatg	6	17	5	13	0	3	2	1	0	2	2	5	2	5	2	3	0	3	1	3	0	3	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:155279838C>A	ENST00000356657.6	+	3	343	c.181C>A	c.(181-183)Ctt>Att	p.L61I	FDPS_ENST00000368356.4_Missense_Mutation_p.L61I|FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	61					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L61I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ACTTAGAGCCCTTTGCTCCTC	0.517																																																	1	Substitution - Missense(1)	endometrium(1)											77	81	80					1																	155279838		2203	4300	6503	SO:0001583	missense	0			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.181C>A	1.37:g.155279838C>A	ENSP00000349078:p.Leu61Ile		D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.L61I	ENST00000356657.6	37	c.181	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026409	0.35701	.	.	ENSG00000160752	ENST00000368356;ENST00000356657	T;T	0.32988	1.43;1.43	4.13	-0.955	0.10356	.	1.237840	0.06392	N	0.717334	T	0.09730	0.0239	L	0.38175	1.15	0.34556	D	0.711835	B	0.09022	0.002	B	0.04013	0.001	T	0.25779	-1.0122	10	0.45353	T	0.12	.	7.1457	0.25581	0.0:0.3799:0.0:0.6201	.	61	P14324	FPPS_HUMAN	I	61	ENSP00000357340:L61I;ENSP00000349078:L61I	ENSP00000349078:L61I	L	+	1	0	FDPS	153546462	0.898000	0.30612	0.966000	0.40874	0.967000	0.64934	-0.112000	0.10791	-0.283000	0.09115	0.543000	0.68304	CTT	FDPS	-	NULL	ENSG00000160752		0.517	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1		0	29	0	C	NM_002004		155279838	1			no_errors	ENST00000356657	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.621	A	A	155279838	C	A	155279838	3	1	47	1	0	0	0	0	1	0	0	0	5825	681	24	3	187	3	FDPS	1	155279838	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	9752183	155279838	93970783	17	11342											
FCRL2	79368	genome.wustl.edu	37	chr1	157719458	157719458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggttcattagtggcaGaactttctcctgaaatgcaa	11	12	9	9	0	2	2	1	1	1	1	3	2	2	2	2	2	2	3	2	2	4	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:157719458G>T	ENST00000361516.3	-	8	1337	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y	FCRL2_ENST00000368181.4_Missense_Mutation_p.S146Y|FCRL2_ENST00000392274.3_Missense_Mutation_p.S430Y	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	430					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATTAGTGGCAGAACTTTCTCC	0.333																																																	0													48	53	52					1																	157719458		2203	4300	6503	SO:0001583	missense	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1289C>A	1.37:g.157719458G>T	ENSP00000355157:p.Ser430Tyr		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S430Y	ENST00000361516.3	37	c.1289	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	G	8.841	0.942227	0.18281	.	.	ENSG00000132704	ENST00000292389;ENST00000361516;ENST00000368181;ENST00000392274	T;T;T	0.23147	2.0;3.45;1.92	3.31	-2.05	0.07321	.	2.780480	0.01927	U	0.040956	T	0.07413	0.0187	M	0.61703	1.905	0.09310	N	1	B;B;B;P	0.49090	0.015;0.073;0.02;0.919	B;B;B;B	0.43445	0.007;0.03;0.011;0.42	T	0.26087	-1.0113	10	0.02654	T	1	.	3.284	0.06925	0.4473:0.0:0.3654:0.1872	.	430;146;430;177	B4DVJ9;Q96LA5-5;Q96LA5;Q96LA5-2	.;.;FCRL2_HUMAN;.	Y	146;430;146;430	ENSP00000355157:S430Y;ENSP00000357163:S146Y;ENSP00000376100:S430Y	ENSP00000292389:S146Y	S	-	2	0	FCRL2	155986082	0.004000	0.15560	0.000000	0.03702	0.103000	0.19146	-0.053000	0.11846	-0.619000	0.05648	-0.158000	0.13435	TCT	FCRL2	-	NULL	ENSG00000132704		0.333	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0	146	0	G	NM_030764		157719458	-1	tier1	-	no_errors	ENST00000361516	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	T	T	157719458	G	T	157719458	3	4	47	1	0	0	0	0	1	0	0	0	5817	942	33	3	257	3	FCRL2	1	157719458	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2439620	157719458	91531163	18	11343											
ATP1A2	477	genome.wustl.edu	37	chr1	160106084	160106084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgagagtgatatcatGaagcggcagccacgaaactc	13	6	12	10	2	1	3	1	3	0	1	2	5	1	3	1	1	4	3	1	1	3	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:160106084G>T	ENST00000361216.3	+	18	2576	c.2487G>T	c.(2485-2487)atG>atT	p.M829I	ATP1A2_ENST00000392233.3_Missense_Mutation_p.M829I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	829					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTGATATCATGAAGCGGCAGC	0.597																																																	0													71	70	71					1																	160106084		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2487G>T	1.37:g.160106084G>T	ENSP00000354490:p.Met829Ile		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.M829I	ENST00000361216.3	37	c.2487	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.801767|4.801767	0.90538|0.90538	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.97553|.	-4.43;-4.43|.	4.71|4.71	4.71|4.71	0.59529|0.59529	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.90304|.	0.6967|.	H|H	0.99357|0.99357	4.53|4.53	0.80722|0.80722	D|D	1|1	B;B|.	0.22414|.	0.056;0.069|.	B;B|.	0.33620|.	0.104;0.167|.	D|.	0.94037|.	0.7306|.	10|.	0.72032|.	D|.	0.01|.	.|.	16.9397|16.9397	0.86213|0.86213	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	729;829|.	F5GXJ7;P50993|.	.;AT1A2_HUMAN|.	I|L	829;829;532|540	ENSP00000354490:M829I;ENSP00000376066:M829I|.	ENSP00000354490:M829I|.	M|X	+|+	3|2	0|2	ATP1A2|ATP1A2	158372708|158372708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.601000|9.601000	0.98297|0.98297	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	ATG|TGA	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.597	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2		0	44	0	G	NM_000702		160106084	1			no_errors	ENST00000361216	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	160106084	G	T	160106084	3	4	47	1	0	0	0	0	1	0	0	0	1130	1290	45	3	2557	3	ATP1A2	1	160106084	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2386626	160106084	89144537	19	11344											
FAM5C	339479	genome.wustl.edu	37	chr1	190067408	190067408	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcaaaatcaggtcccGaattgcttcagggtcaaagt	12	9	10	10	1	3	0	3	0	0	0	4	1	4	0	1	2	3	3	1	2	4	2	rs199983605		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:190067408G>T	ENST00000367462.3	-	8	2272	c.2041C>A	c.(2041-2043)Cgg>Agg	p.R681R	BRINP3_ENST00000534846.1_Silent_p.R579R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	681					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											ATCAGGTCCCGAATTGCTTCA	0.453																																																	0													108	108	108					1																	190067408		2203	4300	6503	SO:0001819	synonymous_variant	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2041C>A	1.37:g.190067408G>T			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	pfam_MACPF,smart_MACPF	p.R681	ENST00000367462.3	37	c.2041	CCDS1373.1	1																																																																																			BRINP3	-	NULL	ENSG00000162670		0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1		0	49	0	G	NM_199051		190067408	-1			no_errors	ENST00000367462	ensembl	human	known	74_37	silent	9.09	20	2	SNP	1.000	T	T	190067408	G	T	190067408	2	4	47	1	0	0	0	0	0	0	0	1	5616	1057	37	2		2	FAM5C	1	190067408	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	29961324	190067408	59183213	20	11345											
GOLT1A	3814	genome.wustl.edu	37	chr1	204167617	204167617	+	5'Flank	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagtgccttgaagtctcCggaacagctgtgggagccaa	10	8	13	10	1	1	1	0	1	1	0	2	3	1	3	3	2	5	2	3	2	4	2	rs149291000		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:204167617C>A	ENST00000367194.4	-	0	0				GOLT1A_ENST00000475517.1_5'Flank|GOLT1A_ENST00000308302.3_Missense_Mutation_p.R123L	NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor						cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		TTGAAGTCTCCGGAACAGCTG	0.502																																																	0													143	129	134					1																	204167617		2203	4300	6503	SO:0001631	upstream_gene_variant	0			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"Endogenous ligands"	6341	protein-coding gene	gene with protein product	"prepro-kisspeptin", "kisspeptin"	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060		1.37:g.204167617C>A	Exception_encountered		A8K6N0|Q9HBP1	Missense_Mutation	SNP	pfam_Vesicle_transpt_Got1/SFT2	p.R123L	ENST00000367194.4	37	c.368	CCDS41454.1	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695558	0.48202	.	.	ENSG00000174567	ENST00000308302	.	.	.	5.03	-7.04	0.01578	.	2.185110	0.02083	N	0.052501	T	0.42494	0.1205	L	0.38838	1.175	0.24444	N	0.994511	B	0.28470	0.213	B	0.34093	0.175	T	0.49447	-0.8939	9	0.66056	D	0.02	0.2205	14.3944	0.67001	0.0:0.2814:0.0:0.7186	.	123	Q6ZVE7	GOT1A_HUMAN	L	123	.	ENSP00000308535:R123L	R	-	2	0	GOLT1A	202434240	0.046000	0.20272	0.846000	0.33378	0.969000	0.65631	-1.911000	0.01583	-1.423000	0.02002	-0.350000	0.07774	CGG	GOLT1A	-	NULL	ENSG00000174567		0.502	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLT1A	HGNC	protein_coding	OTTHUMT00000087892.1	-	0	34	0	C	NM_002256		204167617	-1	tier1	-	no_errors	ENST00000308302	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.529	A	A	204167617	C	A	204167617	1	1	47	0	1	0	0	0	0	0	0	0	6596	652	23	2		2	GOLT1A	1	204167617	5'Flank	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	14100209	204167617	45083004	21	11346											
CNTN2	6900	genome.wustl.edu	37	chr1	205033529	205033529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagagatccttatcccctgCcagccccgggcagctccaaa	9	6	10	16	1	0	1	0	0	0	1	3	3	3	2	7	2	3	2	7	2	2	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:205033529C>T	ENST00000331830.4	+	11	1604	c.1320C>T	c.(1318-1320)tgC>tgT	p.C440C	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	440	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTATCCCCTGCCAGCCCCGGG	0.637																																					Melanoma(183;2548 2817 37099 41192)												0													88	104	99					1																	205033529		2203	4300	6503	SO:0001819	synonymous_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1320C>T	1.37:g.205033529C>T			P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C440	ENST00000331830.4	37	c.1320	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000184144		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	-	0	38	0	C	NM_005076		205033529	1	tier1	-	no_errors	ENST00000331830	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.991	T	T	205033529	C	T	205033529	2	4	47	1	0	0	0	0	0	0	0	1	3648	747	26	3		3	CNTN2	1	205033529	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	865912	205033529	44217092	22	11347											
USH2A	7399	genome.wustl.edu	37	chr1	216052381	216052381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgatgtgagggtcaggCatgtgaatctcatagctaag	13	10	13	5	0	2	3	2	3	1	0	3	3	2	3	0	2	1	2	0	2	4	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:216052381C>A	ENST00000307340.3	-	42	8669	c.8283G>T	c.(8281-8283)atG>atT	p.M2761I	USH2A_ENST00000366943.2_Missense_Mutation_p.M2761I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2761	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGGGTCAGGCATGTGAATCT	0.403										HNSCC(13;0.011)																																							0													156	156	156					1																	216052381		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8283G>T	1.37:g.216052381C>A	ENSP00000305941:p.Met2761Ile		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.M2761I	ENST00000307340.3	37	c.8283	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099437	0.76983	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55760	0.5;0.5	6.16	5.23	0.72850	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000041	T	0.60222	0.2252	M	0.82323	2.585	0.38654	D	0.951912	P	0.39535	0.677	B	0.40329	0.326	T	0.65150	-0.6238	10	0.30078	T	0.28	.	16.8855	0.86075	0.0:0.8449:0.1551:0.0	.	2761	O75445	USH2A_HUMAN	I	2761	ENSP00000305941:M2761I;ENSP00000355910:M2761I	ENSP00000305941:M2761I	M	-	3	0	USH2A	214119004	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	3.630000	0.54273	1.514000	0.48869	0.650000	0.86243	ATG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	46	0	C	NM_007123		216052381	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	216052381	C	A	216052381	3	1	47	1	0	0	0	0	1	0	0	0	17085	710	25	3	7449	3	USH2A	1	216052381	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	11018852	216052381	33198240	23	11348											
TARBP1	6894	genome.wustl.edu	37	chr1	234528170	234528170	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttcttaccccaacaaGagcagagatttctcaggaaa	15	8	8	10	0	2	2	1	0	2	2	3	5	2	3	2	1	4	2	2	1	5	3	rs377007975		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr1:234528170G>T	ENST00000040877.1	-	29	4688	c.4689C>A	c.(4687-4689)ctC>ctA	p.L1563L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1563					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACCCCAACAAGAGCAGAGATT	0.403																																																	0													173	174	174					1																	234528170		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4689C>A	1.37:g.234528170G>T			Q9H581	Silent	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.L1563	ENST00000040877.1	37	c.4689	CCDS1601.1	1																																																																																			TARBP1	-	pfam_SpoU_MeTrfase	ENSG00000059588		0.403	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	-	0	80	0	G	NM_005646		234528170	-1	tier1	-	no_errors	ENST00000040877	ensembl	human	novel	74_37	silent	5.19	72	4	SNP	0.199	T	T	234528170	G	T	234528170	2	4	47	1	0	0	0	0	0	0	0	1	15602	929	33	3		3	TARBP1	1	234528170	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	18475789	234528170	14722451	24	11349											
C2orf71	388939	genome.wustl.edu	37	chr2	29295900	29295900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagagcaggcagtcctGgggtctgcctgagcccaaac	8	6	13	14	0	1	2	0	2	1	1	2	3	2	2	4	3	4	2	4	3	1	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:29295900G>T	ENST00000331664.5	-	1	1227	c.1228C>A	c.(1228-1230)Cag>Aag	p.Q410K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	410					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGCAGTCCTGGGGTCTGCCT	0.577																																																	0													80	82	81					2																	29295900		1981	4164	6145	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1228C>A	2.37:g.29295900G>T	ENSP00000332809:p.Gln410Lys			Missense_Mutation	SNP	NULL	p.Q410K	ENST00000331664.5	37	c.1228	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209294	0.58343	.	.	ENSG00000179270	ENST00000331664	T	0.20598	2.06	5.3	4.43	0.53597	.	0.298586	0.29956	N	0.010778	T	0.19208	0.0461	L	0.50333	1.59	0.30357	N	0.784218	P	0.38597	0.639	B	0.36959	0.237	T	0.11665	-1.0578	10	0.46703	T	0.11	-6.2624	8.7885	0.34837	0.0754:0.0:0.7753:0.1492	.	410	A6NGG8	CB071_HUMAN	K	410	ENSP00000332809:Q410K	ENSP00000332809:Q410K	Q	-	1	0	C2orf71	29149404	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	3.948000	0.56660	1.241000	0.43820	0.561000	0.74099	CAG	C2orf71	-	NULL	ENSG00000179270		0.577	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	-	0	45	0	G	NM_001029883		29295900	-1	tier1	-	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	29295900	G	T	29295900	3	4	47	1	0	0	0	0	1	0	0	0	2198	1357	47	3	2646	3	C2orf71	2	29295900	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		29295900	213903473	25	11350											
CAPN13	92291	genome.wustl.edu	37	chr2	30993193	30993193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacttggcataggccttCtccagcaggcagggccagaa	10	8	11	12	0	1	1	0	0	1	1	2	1	1	1	3	4	2	3	3	4	3	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:30993193C>A	ENST00000295055.8	-	5	686	c.510G>T	c.(508-510)gaG>gaT	p.E170D	CAPN13_ENST00000534090.2_Missense_Mutation_p.E170D|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	170	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATAGGCCTTCTCCAGCAGGC	0.552																																																	0													161	169	167					2																	30993193		2138	4258	6396	SO:0001583	missense	0				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.510G>T	2.37:g.30993193C>A	ENSP00000295055:p.Glu170Asp		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E170D	ENST00000295055.8	37	c.510	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177896	0.78564	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.32753	1.44;1.44	5.46	5.46	0.80206	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81726	-0.0801	10	0.87932	D	0	.	12.2317	0.54492	0.0:0.9175:0.0:0.0824	.	170	Q6MZZ7	CAN13_HUMAN	D	170	ENSP00000295055:E170D;ENSP00000431298:E170D	ENSP00000295055:E170D	E	-	3	2	CAPN13	30846697	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.859000	0.39418	2.575000	0.86900	0.561000	0.74099	GAG	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000162949		0.552	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	-	0	51	0	C	NM_144575		30993193	-1	tier1	-	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	30993193	C	A	30993193	3	1	47	1	0	0	0	0	1	0	0	0	2633	912	32	3	1571	3	CAPN13	2	30993193	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	1697293	30993193	212206180	26	11351											
BIRC6	57448	genome.wustl.edu	37	chr2	32754752	32754752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaatgacacttgcccaGcttttaactctcctatatga	11	13	6	11	0	1	3	0	3	1	0	2	3	1	3	2	0	3	2	2	0	4	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:32754752G>T	ENST00000421745.2	+	60	12089	c.11955G>T	c.(11953-11955)caG>caT	p.Q3985H	MIR558_ENST00000384920.1_RNA	NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3985					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CACTTGCCCAGCTTTTAACTC	0.378																																					Pancreas(94;175 1509 16028 18060 45422)												0													103	104	104					2																	32754752		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.11955G>T	2.37:g.32754752G>T	ENSP00000393596:p.Gln3985His		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.Q3985H	ENST00000421745.2	37	c.11955	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801789	0.70682	.	.	ENSG00000115760	ENST00000421745	D	0.83914	-1.78	5.21	2.2	0.27929	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	L	0.29908	0.895	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	T	0.82192	-0.0579	10	0.87932	D	0	.	10.5165	0.44892	0.1989:0.0:0.8011:0.0	.	3985	Q9NR09	BIRC6_HUMAN	H	3985	ENSP00000393596:Q3985H	ENSP00000393596:Q3985H	Q	+	3	2	BIRC6	32608256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.120000	0.50430	0.126000	0.18424	0.585000	0.79938	CAG	BIRC6	-	NULL	ENSG00000115760		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	75	0	G	NM_016252		32754752	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	9.09	59	6	SNP	1.000	T	T	32754752	G	T	32754752	3	4	47	1	0	0	0	0	1	0	0	0	1440	962	34	3	12193	3	BIRC6	2	32754752	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1761559	32754752	210444621	27	11352											
EIF2AK2	5610	genome.wustl.edu	37	chr2	37368815	37368815	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gataatccttctgaagaattCgttgttgtcaataataaagg	14	14	8	5	1	2	2	1	1	1	1	4	3	3	2	1	1	0	2	1	1	7	7	rs376000248		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:37368815C>T	ENST00000233057.4	-	5	592	c.270G>A	c.(268-270)acG>acA	p.T90T	EIF2AK2_ENST00000405334.1_Silent_p.T90T|EIF2AK2_ENST00000395127.2_Silent_p.T90T	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	90					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CTGAAGAATTCGTTGTTGTCA	0.313																																																	0								C	,,	0,4406		0,0,2203	78	75	76		270,270,270	-2.5	0	2		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF2AK2	NM_001135651.1,NM_001135652.1,NM_002759.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	90/552,90/511,90/552	37368815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 83"	176871	"protein kinase, interferon-inducible double stranded RNA dependent"	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.270G>A	2.37:g.37368815C>T			A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T90	ENST00000233057.4	37	c.270	CCDS1786.1	2																																																																																			EIF2AK2	-	NULL	ENSG00000055332		0.313	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2		0	47	0	C	NM_002759		37368815	-1			no_errors	ENST00000233057	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.000	T	T	37368815	C	T	37368815	2	4	47	1	0	0	0	0	0	0	0	1	5011	871	31	1		1	EIF2AK2	2	37368815	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	4614063	37368815	205830558	28	11353											
SOS1	6654	genome.wustl.edu	37	chr2	39213416	39213416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatgtgggttgcctaGgaggaatggctgggggactg	6	12	18	5	0	0	1	0	1	0	0	0	4	0	4	1	6	1	2	1	6	2	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:39213416G>T	ENST00000426016.1	-	24	3637	c.3551C>A	c.(3550-3552)cCt>cAt	p.P1184H	SOS1_ENST00000395038.2_Missense_Mutation_p.P1169H|SOS1_ENST00000402219.2_Missense_Mutation_p.P1184H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1184					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P1184H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GGGTTGCCTAGGAGGAATGGC	0.393									Noonan syndrome																																								1	Substitution - Missense(1)	ovary(1)											73	80	77					2																	39213416		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3551C>A	2.37:g.39213416G>T	ENSP00000387784:p.Pro1184His		A8K2G3|B4DXG2	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.P1184H	ENST00000426016.1	37	c.3551	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542113	0.65198	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	D;D;D	0.84516	-1.52;-1.52;-1.86	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90861	0.7129	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89481	0.3750	10	0.40728	T	0.16	.	19.559	0.95364	0.0:0.0:1.0:0.0	.	1184	Q07889	SOS1_HUMAN	H	1184;1184;901;1169	ENSP00000387784:P1184H;ENSP00000384675:P1184H;ENSP00000378479:P1169H	ENSP00000378479:P1169H	P	-	2	0	SOS1	39066920	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.554000	0.90689	2.706000	0.92434	0.650000	0.86243	CCT	SOS1	-	NULL	ENSG00000115904		0.393	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3		0	109	0	G	NM_005633		39213416	-1			no_errors	ENST00000402219	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	39213416	G	T	39213416	3	4	47	1	0	0	0	0	1	0	0	0	14981	1000	35	3	454	3	SOS1	2	39213416	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1844601	39213416	203985957	29	11354											
KCNG3	170850	genome.wustl.edu	37	chr2	42671718	42671718	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagatagcttcaattaTcctgtcaagagaacaaaaga	17	10	7	7	0	2	3	2	0	0	3	3	4	3	3	1	0	3	2	1	0	8	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:42671718T>G	ENST00000306078.1	-	2	1262	c.667A>C	c.(667-669)Ata>Cta	p.I223L	KCNG3_ENST00000394973.4_Splice_Site_p.I212L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	223					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GCTTCAATTATCCTGTCAAGA	0.363																																																	0													77	75	75					2																	42671718		2203	4300	6503	SO:0001630	splice_region_variant	0			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.666-1A>C	2.37:g.42671718T>G			Q53SC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.I223L	ENST00000306078.1	37	c.667	CCDS1809.1	2	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707152	0.48412	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.98701	-5.08;-5.08	5.16	4.0	0.46444	Ion transport (1);	0.212522	0.39759	N	0.001271	D	0.98385	0.9463	M	0.62266	1.93	0.42650	D	0.993443	B;P	0.51147	0.031;0.942	B;D	0.64595	0.038;0.927	D	0.97114	0.9806	10	0.25106	T	0.35	.	9.6684	0.39998	0.0:0.0868:0.0:0.9132	.	223;212	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	L	223;212	ENSP00000304127:I223L;ENSP00000378424:I212L	ENSP00000304127:I223L	I	-	1	0	KCNG3	42525222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.052000	0.57420	0.800000	0.34041	0.460000	0.39030	ATA	KCNG3	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000171126		0.363	KCNG3-001	KNOWN	basic|CCDS	protein_coding	KCNG3	HGNC	protein_coding	OTTHUMT00000250464.2		0	48	0	T	NM_172344	Missense_Mutation	42671718	-1			no_errors	ENST00000306078	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G	G	42671718	T	G	42671718	5	3	47	1	0	0	0	0	0	0	1	0	8056	1449	50	4	647	4	KCNG3	2	42671718	Splice_Site	SNP	T	TCGA-KH-A6WC-01A-11D-A33E-09	3458302	42671718	200527655	30	11355											
ETAA1	54465	genome.wustl.edu	37	chr2	67632308	67632308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaaaaattctcagattCtttctcagtttaatcaaaat	15	15	5	6	0	4	2	3	1	3	1	6	3	4	3	0	1	0	1	0	1	5	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:67632308C>A	ENST00000272342.5	+	5	2624	c.2494C>A	c.(2494-2496)Ctt>Att	p.L832I	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	832						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCTCAGATTCTTTCTCAGTT	0.363																																																	0													48	49	49					2																	67632308		2202	4295	6497	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2494C>A	2.37:g.67632308C>A	ENSP00000272342:p.Leu832Ile		Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.L832I	ENST00000272342.5	37	c.2494	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	C	7.238	0.600643	0.13939	.	.	ENSG00000143971	ENST00000272342	T	0.20598	2.06	4.78	0.666	0.17901	.	1.012260	0.07917	N	0.975318	T	0.19565	0.0470	L	0.56769	1.78	0.09310	N	1	B	0.20261	0.043	B	0.19666	0.026	T	0.35748	-0.9776	10	0.48119	T	0.1	2.1978	3.1113	0.06359	0.2749:0.3407:0.3004:0.084	.	832	Q9NY74	ETAA1_HUMAN	I	832	ENSP00000272342:L832I	ENSP00000272342:L832I	L	+	1	0	ETAA1	67485812	0.000000	0.05858	0.004000	0.12327	0.289000	0.27227	-0.021000	0.12504	0.003000	0.14656	-0.165000	0.13383	CTT	ETAA1	-	NULL	ENSG00000143971		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1		0	74	0	C	NM_019002		67632308	1			no_errors	ENST00000272342	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.002	A	A	67632308	C	A	67632308	3	1	47	1	0	0	0	0	1	0	0	0	5283	913	32	3	2512	3	ETAA1	2	67632308	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	24960590	67632308	175567065	31	11356											
DYSF	8291	genome.wustl.edu	37	chr2	71797024	71797024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaccagacccggcttcccgGaggccagtggatctacatga	10	6	12	13	2	1	2	0	1	1	1	2	5	2	4	4	4	2	1	4	4	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:71797024G>T	ENST00000258104.3	+	27	3162	c.2885G>T	c.(2884-2886)gGa>gTa	p.G962V	DYSF_ENST00000413539.2_Missense_Mutation_p.G993V|DYSF_ENST00000409744.1_Missense_Mutation_p.G949V|DYSF_ENST00000409582.3_Missense_Mutation_p.G979V|DYSF_ENST00000409762.1_Missense_Mutation_p.G979V|DYSF_ENST00000410020.3_Missense_Mutation_p.G980V|DYSF_ENST00000429174.2_Missense_Mutation_p.G962V|DYSF_ENST00000409366.1_Missense_Mutation_p.G963V|DYSF_ENST00000409651.1_Missense_Mutation_p.G994V|DYSF_ENST00000410041.1_Missense_Mutation_p.G980V|DYSF_ENST00000394120.2_Missense_Mutation_p.G963V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	962					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGCTTCCCGGAGGCCAGTGG	0.577																																																	0													53	55	54					2																	71797024		2203	4300	6503	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2885G>T	2.37:g.71797024G>T	ENSP00000258104:p.Gly962Val		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.G993V	ENST00000258104.3	37	c.2978	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	g	29.6	5.021435	0.93462	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	5.21	5.21	0.72293	Ferlin/Peroxisome membrane (1);	0.121022	0.56097	D	0.000040	D	0.95130	0.8422	L	0.39147	1.195	0.80722	D	1	D;D;D;D;D;P;D;B;D;P;P;D;D;D	0.59357	0.981;0.981;0.981;0.981;0.984;0.837;0.984;0.175;0.981;0.904;0.851;0.966;0.981;0.985	P;P;P;P;P;P;P;B;P;P;P;P;P;P	0.61003	0.812;0.812;0.812;0.812;0.812;0.649;0.812;0.213;0.812;0.534;0.649;0.812;0.812;0.882	D	0.95323	0.8422	10	0.59425	D	0.04	-16.154	16.623	0.84934	0.0:0.0:1.0:0.0	.	994;980;963;949;980;949;979;948;993;979;962;948;963;962	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	V	993;979;979;962;962;994;963;949;963;980;980	ENSP00000407046:G993V;ENSP00000387137:G979V;ENSP00000386547:G979V;ENSP00000398305:G962V;ENSP00000258104:G962V;ENSP00000386683:G994V;ENSP00000377678:G963V;ENSP00000386285:G949V;ENSP00000386512:G963V;ENSP00000386881:G980V;ENSP00000386617:G980V	ENSP00000258104:G962V	G	+	2	0	DYSF	71650532	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	9.628000	0.98415	2.597000	0.87782	0.546000	0.68486	GGA	DYSF	-	smart_Peroxin/Ferlin	ENSG00000135636		0.577	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3		0	43	0	G	NM_003494		71797024	1			no_errors	ENST00000413539	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	71797024	G	T	71797024	3	4	47	1	0	0	0	0	1	0	0	0	4873	1174	41	3	3183	3	DYSF	2	71797024	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4164716	71797024	171402349	32	11357											
POU3F3	5455	genome.wustl.edu	37	chr2	105473304	105473304	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgacagcctgcagctcGagaaggaggtggtgcgggtc	7	6	18	10	3	0	1	0	0	0	1	2	4	0	2	2	5	4	2	2	5	1	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:105473304G>T	ENST00000361360.2	+	1	1336	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	446					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCTGCAGCTCGAGAAGGAGGT	0.642																																																	0													38	40	39					2																	105473304		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1336G>T	2.37:g.105473304G>T	ENSP00000355001:p.Glu446*		P78379|Q4ZG25	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.E446*	ENST00000361360.2	37	c.1336	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.253902	0.97417	.	.	ENSG00000198914	ENST00000361360	.	.	.	4.31	4.31	0.51392	.	0.000000	0.64402	U	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5529	0.76167	0.0:0.0:1.0:0.0	.	.	.	.	X	446	.	ENSP00000355001:E446X	E	+	1	0	POU3F3	104839736	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.514000	0.81750	1.943000	0.56356	0.462000	0.41574	GAG	POU3F3	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_POU	ENSG00000198914		0.642	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	-	0	50	0	G			105473304	1	tier1	-	no_errors	ENST00000361360	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T	T	105473304	G	T	105473304	4	4	47	1	0	0	0	0	0	1	0	0	12315	1059	37	2	1338	2	POU3F3	2	105473304	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	33676280	105473304	137726069	33	11358											
CCDC138	165055	genome.wustl.edu	37	chr2	109411085	109411085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgaaacctgtcagctgtCcaaaatctaaagcatcagac	14	10	6	11	0	3	2	2	1	1	1	4	2	4	2	2	0	3	2	2	0	5	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:109411085C>A	ENST00000295124.4	+	5	544	c.484C>A	c.(484-486)Cca>Aca	p.P162T	CCDC138_ENST00000470608.1_3'UTR|CCDC138_ENST00000412964.2_Missense_Mutation_p.P162T	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	162										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TGTCAGCTGTCCAAAATCTAA	0.423																																																	0													82	82	82					2																	109411085		2203	4300	6503	SO:0001583	missense	0			AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.484C>A	2.37:g.109411085C>A	ENSP00000295124:p.Pro162Thr		Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	NULL	p.P162T	ENST00000295124.4	37	c.484	CCDS2080.1	2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932076	0.34096	.	.	ENSG00000163006	ENST00000412964;ENST00000295124	D;D	0.90261	-2.64;-2.64	5.85	3.02	0.34903	.	0.512246	0.18563	N	0.137557	D	0.83450	0.5257	L	0.57536	1.79	0.09310	N	1	P;P	0.38078	0.465;0.617	B;B	0.34242	0.124;0.178	T	0.71237	-0.4652	10	0.05833	T	0.94	-3.1462	7.2178	0.25969	0.0:0.6662:0.1273:0.2065	.	162;162	Q96M89-2;Q96M89	.;CC138_HUMAN	T	162	ENSP00000411800:P162T;ENSP00000295124:P162T	ENSP00000295124:P162T	P	+	1	0	CCDC138	108777517	0.000000	0.05858	0.005000	0.12908	0.099000	0.18886	-0.089000	0.11180	0.791000	0.33826	0.561000	0.74099	CCA	CCDC138	-	NULL	ENSG00000163006		0.423	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC138	HGNC	protein_coding	OTTHUMT00000253593.1	-	0	73	0	C	NM_144978		109411085	1	tier1	-	no_errors	ENST00000295124	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.001	A	A	109411085	C	A	109411085	3	1	47	1	0	0	0	0	1	0	0	0	2779	855	30	3	502	3	CCDC138	2	109411085	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	3937781	109411085	133788288	34	11359											
UGGT1	56886	genome.wustl.edu	37	chr2	128922332	128922332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttggtaatgaaggtggatGctcttctgtcagcgcaacca	10	11	11	9	1	3	1	1	1	2	0	3	2	3	2	1	3	3	3	1	3	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:128922332G>T	ENST00000259253.6	+	26	2901	c.2854G>T	c.(2854-2856)Gct>Tct	p.A952S	UGGT1_ENST00000375990.3_Missense_Mutation_p.A928S	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	952					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGGTGGATGCTCTTCTGTC	0.373																																																	0													103	101	102					2																	128922332		2203	4300	6503	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2854G>T	2.37:g.128922332G>T	ENSP00000259253:p.Ala952Ser		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.A952S	ENST00000259253.6	37	c.2854	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244995	0.39697	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29142	1.58;1.58	5.35	5.35	0.76521	.	0.111068	0.64402	D	0.000012	T	0.21468	0.0517	N	0.25031	0.7	0.45690	D	0.998608	B;B	0.02656	0.0;0.0	B;B	0.16289	0.002;0.015	T	0.05500	-1.0881	9	.	.	.	.	14.2907	0.66275	0.0:0.0:0.8513:0.1487	.	928;952	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	S	928;952	ENSP00000365158:A928S;ENSP00000259253:A952S	.	A	+	1	0	UGGT1	128638802	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.226000	0.51254	2.634000	0.89283	0.557000	0.71058	GCT	UGGT1	-	pfam_UDP-g_GGtrans	ENSG00000136731		0.373	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	73	0	G	NM_020120		128922332	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	128922332	G	T	128922332	3	4	47	1	0	0	0	0	1	0	0	0	16990	1319	46	3	2956	3	UGGT1	2	128922332	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	19511247	128922332	114277041	35	11360											
HNMT	3176	genome.wustl.edu	37	chr2	138758583	138758583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtgctgaacaaattGccaaatacaaaggtacctgt	16	8	8	9	0	0	1	0	1	0	0	0	1	0	1	3	1	6	2	3	1	7	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:138758583G>T	ENST00000280097.3	+	3	468	c.286G>T	c.(286-288)Gcc>Tcc	p.A96S	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.A96S	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	96					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	TGAACAAATTGCCAAATACAA	0.373																																																	0													81	73	76					2																	138758583		2203	4300	6503	SO:0001583	missense	0				CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.286G>T	2.37:g.138758583G>T	ENSP00000280097:p.Ala96Ser		B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase	p.A96S	ENST00000280097.3	37	c.286	CCDS2181.1	2	.	.	.	.	.	.	.	.	.	.	G	5.421	0.262783	0.10294	.	.	ENSG00000150540	ENST00000410115;ENST00000280097	T;T	0.44083	0.93;0.93	5.48	-5.65	0.02459	Methyltransferase type 12 (1);	1.033270	0.07534	N	0.912675	T	0.18923	0.0454	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.17433	0.018	T	0.30179	-0.9987	10	0.09338	T	0.73	-11.5935	4.9486	0.14002	0.5695:0.0819:0.183:0.1656	.	96	P50135	HNMT_HUMAN	S	96	ENSP00000386940:A96S;ENSP00000280097:A96S	ENSP00000280097:A96S	A	+	1	0	HNMT	138475053	0.000000	0.05858	0.004000	0.12327	0.561000	0.35649	-1.050000	0.03510	-1.198000	0.02669	0.655000	0.94253	GCC	HNMT	-	pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase	ENSG00000150540		0.373	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNMT	HGNC	protein_coding	OTTHUMT00000254673.1	-	0	41	0	G			138758583	1	tier1	-	no_errors	ENST00000280097	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.000	T	T	138758583	G	T	138758583	3	4	47	1	0	0	0	0	1	0	0	0	7282	1319	46	3	514	3	HNMT	2	138758583	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	9836251	138758583	104440790	36	11361											
UBR3	130507	genome.wustl.edu	37	chr2	170783470	170783470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgattcttttgagtcttcGtttacatttaggtaaaactc	9	19	7	6	1	2	2	0	2	2	0	4	2	2	2	0	1	2	2	0	1	4	9			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:170783470G>T	ENST00000272793.5	+	16	2377	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	UBR3_ENST00000418381.1_Missense_Mutation_p.R776L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	776					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTGAGTCTTCGTTTACATTTA	0.393																																																	0													380	323	340					2																	170783470		692	1591	2283	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.2327G>T	2.37:g.170783470G>T	ENSP00000272793:p.Arg776Leu		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R776L	ENST00000272793.5	37	c.2327		2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418203	0.83449	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.64085	-0.08;-0.08	5.25	5.25	0.73442	.	.	.	.	.	T	0.76828	0.4042	M	0.67397	2.05	0.80722	D	1	D	0.60160	0.987	D	0.67725	0.953	T	0.77653	-0.2507	9	0.51188	T	0.08	.	17.0258	0.86446	0.0:0.0:1.0:0.0	.	776	Q6ZT12	UBR3_HUMAN	L	776	ENSP00000272793:R776L;ENSP00000396068:R776L	ENSP00000272793:R776L	R	+	2	0	UBR3	170491716	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.459000	0.83118	0.557000	0.71058	CGT	UBR3	-	NULL	ENSG00000144357		0.393	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2		0	19	0	G	NM_172070		170783470	1			no_errors	ENST00000272793	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	170783470	G	T	170783470	3	4	47	1	0	0	0	0	1	0	0	0	16952	1145	40	2	2389	2	UBR3	2	170783470	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	32024887	170783470	72415903	37	11362											
TTN	7273	genome.wustl.edu	37	chr2	179605299	179605299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttagataagaatgcattgGaggttctattgaagactgtg	12	13	13	3	0	1	4	0	1	1	3	1	5	1	5	0	3	1	3	0	3	5	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:179605299G>T	ENST00000591111.1	-	46	11934	c.11710C>A	c.(11710-11712)Cca>Aca	p.P3904T	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3858T|TTN_ENST00000342175.6_Missense_Mutation_p.P4050T|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P4221T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P3983T			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATGCATTGGAGGTTCTATT	0.383																																																	0													134	122	126					2																	179605299		1854	4107	5961	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11710C>A	2.37:g.179605299G>T	ENSP00000465570:p.Pro3904Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P4050T	ENST00000591111.1	37	c.12148		2	.	.	.	.	.	.	.	.	.	.	G	2.411	-0.335301	0.05278	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60171	0.27;0.22;0.21	5.51	1.53	0.23141	.	.	.	.	.	T	0.40719	0.1128	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33471	-0.9867	9	0.87932	D	0	.	5.2932	0.15739	0.0652:0.3442:0.3547:0.2359	.	3858;3983;4050	D3DPF9;E7EQE6;E7ET18	.;.;.	T	3858;4050;3983;3858	ENSP00000434586:P3858T;ENSP00000340554:P4050T;ENSP00000352154:P3983T	ENSP00000340554:P4050T	P	-	1	0	TTN	179313544	0.024000	0.19004	0.000000	0.03702	0.300000	0.27592	0.725000	0.25970	0.005000	0.14708	0.655000	0.94253	CCA	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	60	0	G	NM_133378		179605299	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T	T	179605299	G	T	179605299	3	4	47	1	0	0	0	0	1	0	0	0	16784	1174	41	3	92128	3	TTN	2	179605299	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	8821829	179605299	63594074	38	11363											
CCDC150	284992	genome.wustl.edu	37	chr2	197594039	197594039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaacaaggagaaaataaaGaatcaaaagacccaaattaa	25	5	6	5	0	1	3	1	0	0	3	1	4	1	3	1	1	1	1	1	1	11	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:197594039G>T	ENST00000389175.4	+	23	2814	c.2679G>T	c.(2677-2679)aaG>aaT	p.K893N	CCDC150_ENST00000409270.1_Missense_Mutation_p.K380N|CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.K540N	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	893										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGAAAATAAAGAATCAAAAGA	0.413																																																	0													105	101	102					2																	197594039		1850	4084	5934	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2679G>T	2.37:g.197594039G>T	ENSP00000373827:p.Lys893Asn		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.K893N	ENST00000389175.4	37	c.2679	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365092	0.82463	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.51071	0.72	5.67	5.67	0.87782	.	0.406531	0.25535	N	0.030018	T	0.61022	0.2314	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.67145	0.996;0.979;0.979;0.977	P;P;P;P	0.59357	0.856;0.846;0.801;0.711	T	0.54788	-0.8241	10	0.30078	T	0.28	-19.6913	16.6874	0.85312	0.0:0.0:1.0:0.0	.	310;540;380;893	B4DWS7;B4DZ03;Q8NCX0-2;Q8NCX0	.;.;.;CC150_HUMAN	N	540;893;380	ENSP00000373827:K893N	ENSP00000272831:K540N	K	+	3	2	CCDC150	197302284	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	1.713000	0.37951	2.697000	0.92050	0.655000	0.94253	AAG	CCDC150	-	NULL	ENSG00000144395		0.413	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2		0	60	0	G	NM_001080539		197594039	1			no_errors	ENST00000389175	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	197594039	G	T	197594039	3	4	47	1	0	0	0	0	1	0	0	0	2792	933	33	3	2769	3	CCDC150	2	197594039	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	17988740	197594039	45605334	39	11364											
ABCA12	26154	genome.wustl.edu	37	chr2	215865633	215865633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcttcttgtggtctgtGcggtcttgagactcatccgg	4	15	13	9	2	4	1	1	1	3	1	5	2	5	1	1	4	1	1	1	4	1	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:215865633G>T	ENST00000272895.7	-	22	3194	c.2975C>A	c.(2974-2976)gCa>gAa	p.A992E	ABCA12_ENST00000389661.4_Missense_Mutation_p.A674E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	992					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTGGTCTGTGCGGTCTTGAG	0.453																																					Ovarian(66;664 1488 5121 34295)												0													142	149	147					2																	215865633		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2975C>A	2.37:g.215865633G>T	ENSP00000272895:p.Ala992Glu		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A992E	ENST00000272895.7	37	c.2975	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062268	0.55432	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95885	-3.84;-3.84	5.73	5.73	0.89815	.	0.350884	0.28021	N	0.016901	D	0.94712	0.8294	L	0.50333	1.59	0.80722	D	1	B;B	0.28971	0.229;0.068	B;B	0.35182	0.122;0.197	D	0.92652	0.6134	10	0.52906	T	0.07	.	19.9082	0.97015	0.0:0.0:1.0:0.0	.	992;674	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	E	992;674	ENSP00000272895:A992E;ENSP00000374312:A674E	ENSP00000272895:A992E	A	-	2	0	ABCA12	215573878	0.937000	0.31787	0.700000	0.30305	0.987000	0.75469	5.458000	0.66679	2.705000	0.92388	0.555000	0.69702	GCA	ABCA12	-	NULL	ENSG00000144452		0.453	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	71	0	G	NM_173076		215865633	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.777	T	T	215865633	G	T	215865633	3	4	47	1	0	0	0	0	1	0	0	0	30	1319	46	3	4940	3	ABCA12	2	215865633	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	18271594	215865633	27333740	40	11365											
SLC4A3	6508	genome.wustl.edu	37	chr2	220505562	220505562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatccagctgggctgcatcGcactgctctgggtggtcaag	6	9	14	12	1	2	0	1	0	1	0	4	0	3	0	1	3	3	6	1	3	1	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:220505562G>T	ENST00000358055.3	+	22	4011	c.3499G>T	c.(3499-3501)Gca>Tca	p.A1167S	SLC4A3_ENST00000373762.3_Missense_Mutation_p.A1194S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A1167S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A1194S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A1167S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1167	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGCATCGCACTGCTCTG	0.652																																																	0													72	57	62					2																	220505562		2203	4300	6503	SO:0001583	missense	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3499G>T	2.37:g.220505562G>T	ENSP00000350756:p.Ala1167Ser		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.A1194S	ENST00000358055.3	37	c.3580	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901879	0.92035	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	4.83	4.83	0.62350	.	0.203429	0.40908	D	0.000993	T	0.82061	0.4955	M	0.79693	2.465	0.37837	D	0.92891	P;P;P	0.52061	0.564;0.795;0.95	P;P;P	0.54965	0.526;0.587;0.765	D	0.86715	0.1938	10	0.66056	D	0.02	.	18.3098	0.90195	0.0:0.0:1.0:0.0	.	871;1167;1194	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	S	1167;1167;1194;1194;1167	ENSP00000350756:A1167S;ENSP00000362865:A1167S;ENSP00000273063:A1194S;ENSP00000362867:A1194S;ENSP00000314006:A1167S	ENSP00000273063:A1194S	A	+	1	0	SLC4A3	220213806	0.998000	0.40836	0.751000	0.31187	0.990000	0.78478	7.841000	0.86834	2.396000	0.81511	0.563000	0.77884	GCA	SLC4A3	-	tigrfam_HCO3_transpt_euk	ENSG00000114923		0.652	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0	27	0	G	NM_005070		220505562	1			no_errors	ENST00000273063	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.940	T	T	220505562	G	T	220505562	3	4	47	1	0	0	0	0	1	0	0	0	14700	1087	38	2	3662	2	SLC4A3	2	220505562	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4639929	220505562	22693811	41	11366											
TM4SF20	79853	genome.wustl.edu	37	chr2	228228650	228228650	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatggtgtcgttactggtGggtttattgaaaccagtagg	8	13	14	6	1	0	1	0	1	0	0	1	1	0	1	2	4	2	3	2	4	4	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:228228650G>T	ENST00000304568.3	-	4	517	c.480C>A	c.(478-480)ccC>ccA	p.P160P		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CGTTACTGGTGGGTTTATTGA	0.398																																																	0													88	84	85					2																	228228650		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.480C>A	2.37:g.228228650G>T			B2RP42|Q5U609|Q6UWS1|Q9H5X9	Silent	SNP	pfam_L6_membrane	p.P160	ENST00000304568.3	37	c.480	CCDS2466.1	2																																																																																			TM4SF20	-	pfam_L6_membrane	ENSG00000168955		0.398	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF20	HGNC	protein_coding	OTTHUMT00000256896.2	-	0	61	0	G	NM_024795		228228650	-1	tier1	-	no_errors	ENST00000304568	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.000	T	T	228228650	G	T	228228650	2	4	47	1	0	0	0	0	0	0	0	1	16016	1335	47	3		3	TM4SF20	2	228228650	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	7723088	228228650	14970723	42	11367											
RAB17	64284	genome.wustl.edu	37	chr2	238486700	238486700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggcacccctgaagtagaGgtggcagacgctgtggtact	8	9	15	9	1	0	3	0	1	0	2	0	3	0	3	2	4	1	6	2	4	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:238486700G>T	ENST00000264601.3	-	3	885	c.256C>A	c.(256-258)Ctc>Atc	p.L86I	RAB17_ENST00000409822.1_5'UTR|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	86					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		CTGAAGTAGAGGTGGCAGACG	0.597																																					Colon(56;987 1029 6466 13943 27336)												0													91	81	84					2																	238486700		2203	4300	6503	SO:0001583	missense	0			AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.256C>A	2.37:g.238486700G>T	ENSP00000264601:p.Leu86Ile		Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L86I	ENST00000264601.3	37	c.256	CCDS2520.1	2	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911098	0.72983	.	.	ENSG00000124839	ENST00000264601;ENST00000411462	T;T	0.80480	-1.38;-1.38	4.44	1.39	0.22231	Small GTP-binding protein domain (1);	0.000000	0.48286	D	0.000191	T	0.63522	0.2518	N	0.12569	0.235	0.80722	D	1	B	0.29716	0.255	B	0.35312	0.2	T	0.56001	-0.8051	10	0.52906	T	0.07	3.3445	6.5471	0.22412	0.0859:0.0:0.4649:0.4492	.	86	Q9H0T7	RAB17_HUMAN	I	86;64	ENSP00000264601:L86I;ENSP00000400240:L64I	ENSP00000264601:L86I	L	-	1	0	RAB17	238151439	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	2.556000	0.45862	0.309000	0.22966	0.609000	0.83330	CTC	RAB17	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000124839		0.597	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB17	HGNC	protein_coding	OTTHUMT00000257084.2	-	0	46	0	G			238486700	-1	tier1	-	no_errors	ENST00000264601	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	238486700	G	T	238486700	3	4	47	1	0	0	0	0	1	0	0	0	12947	1000	35	3	398	3	RAB17	2	238486700	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	10258050	238486700	4712673	43	11368											
SNED1	25992	genome.wustl.edu	37	chr2	242009498	242009498	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaacgggaagctggcGtcctacacggtgcgcgacct	7	6	13	15	5	0	0	0	0	0	0	2	2	2	1	4	3	4	1	4	3	3	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:242009498G>T	ENST00000310397.8	+	24	3471	c.3471G>T	c.(3469-3471)gcG>gcT	p.A1157A	MTERFD2_ENST00000464344.2_5'Flank|SNED1_ENST00000342631.6_Silent_p.A1157A|SNED1_ENST00000401884.1_Silent_p.A1157A|SNED1_ENST00000405547.3_Silent_p.A1157A	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1157	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGAAGCTGGCGTCCTACACGG	0.657																																																	0													26	32	30					2																	242009498		2125	4226	6351	SO:0001819	synonymous_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3471G>T	2.37:g.242009498G>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.A1157	ENST00000310397.8	37	c.3471	CCDS46562.1	2																																																																																			SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000162804		0.657	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	-	0	60	0	G	XM_059482		242009498	1	tier1	-	no_errors	ENST00000310397	ensembl	human	known	74_37	silent	6.06	93	6	SNP	0.000	T	T	242009498	G	T	242009498	2	4	47	1	0	0	0	0	0	0	0	1	14890	1132	40	2		2	SNED1	2	242009498	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	3522798	242009498	1189875	44	11369											
D2HGDH	728294	genome.wustl.edu	37	chr2	242690702	242690702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagacttcaggctccaacGcaggccatgacgctgagaag	11	6	12	12	3	1	3	1	2	0	2	3	5	2	3	2	2	1	3	2	2	2	1	rs142624021	byFrequency	TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr2:242690702G>T	ENST00000321264.4	+	8	1248	c.1039G>T	c.(1039-1041)Gca>Tca	p.A347S	D2HGDH_ENST00000403782.1_Missense_Mutation_p.A213S|D2HGDH_ENST00000486953.1_Intron	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	347					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		AGGCTCCAACGCAGGCCATGA	0.602																																																	0													68	65	66					2																	242690702		2203	4296	6499	SO:0001583	missense	0			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1039G>T	2.37:g.242690702G>T	ENSP00000315351:p.Ala347Ser		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.A347S	ENST00000321264.4	37	c.1039	CCDS33426.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.394|1.394	-0.580092|-0.580092	0.03854|0.03854	.|.	.|.	ENSG00000180902|ENSG00000180902	ENST00000321264;ENST00000403782;ENST00000454048|ENST00000432449	D;D;T|.	0.83591|.	-1.74;-1.74;-1.08|.	5.1|5.1	3.29|3.29	0.37713|0.37713	FAD-linked oxidase-like, C-terminal (1);FAD-linked oxidase, C-terminal (1);|.	0.531049|.	0.19064|.	N|.	0.123687|.	T|T	0.22085|0.22085	0.0532|0.0532	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B|.	0.18013|.	0.025|.	B|.	0.19666|.	0.026|.	T|T	0.20405|0.20405	-1.0276|-1.0276	10|5	0.09084|.	T|.	0.74|.	0.7091|0.7091	3.028|3.028	0.06097|0.06097	0.1476:0.1203:0.5253:0.2068|0.1476:0.1203:0.5253:0.2068	.|.	347|.	Q8N465|.	D2HDH_HUMAN|.	S|L	347;213;48|100	ENSP00000315351:A347S;ENSP00000384723:A213S;ENSP00000404596:A48S|.	ENSP00000315351:A347S|.	A|R	+|+	1|2	0|0	D2HGDH|D2HGDH	242339375|242339375	0.010000|0.010000	0.17322|0.17322	0.000000|0.000000	0.03702|0.03702	0.031000|0.031000	0.12232|0.12232	0.475000|0.475000	0.22164|0.22164	0.541000|0.541000	0.28827|0.28827	0.561000|0.561000	0.74099|0.74099	GCA|CGC	D2HGDH	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C	ENSG00000180902		0.602	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	D2HGDH	HGNC	protein_coding	OTTHUMT00000322794.2		0	28	0	G	NM_152783		242690702	1			no_errors	ENST00000321264	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	T	T	242690702	G	T	242690702	3	4	47	1	0	0	0	0	1	0	0	0	4222	1087	38	2	1065	2	D2HGDH	2	242690702	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	681204	242690702	508671	45	11370											
CNOT10	25904	genome.wustl.edu	37	chr3	32806207	32806207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcagtgctaccccagttCcgtcaactctgccaggactg	7	9	8	17	1	3	0	2	0	1	0	4	1	4	1	5	1	4	2	5	1	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:32806207C>A	ENST00000328834.5	+	17	2226	c.1910C>A	c.(1909-1911)tCc>tAc	p.S637Y	CNOT10_ENST00000454516.2_Missense_Mutation_p.S697Y|CNOT10_ENST00000331889.6_Missense_Mutation_p.S610Y	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	637					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TACCCCAGTTCCGTCAACTCT	0.547																																																	0													140	139	139					3																	32806207		2203	4300	6503	SO:0001583	missense	0			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"Tetratricopeptide (TTC) repeat domain containing"	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1910C>A	3.37:g.32806207C>A	ENSP00000330060:p.Ser637Tyr		B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat	p.S697Y	ENST00000328834.5	37	c.2090	CCDS2655.1	3	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644074	0.87859	.	.	ENSG00000182973	ENST00000331889;ENST00000328834;ENST00000454516;ENST00000430408	T;T;T	0.36157	1.32;1.3;1.27	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.094163	0.85682	D	0.000000	T	0.61739	0.2371	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.979;0.971;0.998;0.956	T	0.59579	-0.7428	10	0.87932	D	0	-16.8887	20.8794	0.99867	0.0:1.0:0.0:0.0	.	697;610;636;637	F8WAF2;Q9H9A5-3;Q9H9A5-2;Q9H9A5	.;.;.;CNOTA_HUMAN	Y	610;637;697;172	ENSP00000329376:S610Y;ENSP00000330060:S637Y;ENSP00000399862:S697Y	ENSP00000330060:S637Y	S	+	2	0	CNOT10	32781211	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.240000	0.72363	2.941000	0.99782	0.655000	0.94253	TCC	CNOT10	-	NULL	ENSG00000182973		0.547	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT10	HGNC	protein_coding	OTTHUMT00000253248.2		0	38	0	C	NM_015442		32806207	1			no_errors	ENST00000454516	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A	A	32806207	C	A	32806207	3	1	47	1	0	0	0	0	1	0	0	0	3625	855	30	3	1976	3	CNOT10	3	32806207	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09		32806207	165216223	46	11371											
ZNF445	353274	genome.wustl.edu	37	chr3	44489119	44489119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccacactgctgacacaGaaatgttttctccacagcgg	10	11	7	13	1	1	2	0	1	1	1	3	2	2	2	2	1	2	2	2	1	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:44489119G>T	ENST00000396077.2	-	8	2391	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	ZNF445_ENST00000425708.2_Missense_Mutation_p.L682M	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	682					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L682M(2)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGCTGACACAGAAATGTTTTC	0.468																																																	2	Substitution - Missense(2)	large_intestine(2)											77	75	75					3																	44489119		2203	4300	6503	SO:0001583	missense	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2044C>A	3.37:g.44489119G>T	ENSP00000379387:p.Leu682Met		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L682M	ENST00000396077.2	37	c.2044	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	G	5.740	0.320970	0.10845	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.61274	0.12;0.12	3.88	-7.76	0.01232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.326550	0.02051	N	0.050067	T	0.33352	0.0860	N	0.16656	0.425	0.09310	N	1	P;P	0.44309	0.728;0.832	B;B	0.39904	0.313;0.313	T	0.46247	-0.9205	10	0.59425	D	0.04	.	0.9001	0.01272	0.2844:0.2456:0.29:0.18	.	670;682	B7ZKX2;P59923	.;ZN445_HUMAN	M	682	ENSP00000413073:L682M;ENSP00000379387:L682M	ENSP00000379387:L682M	L	-	1	2	ZNF445	44464123	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-1.878000	0.01630	-1.789000	0.01264	-0.383000	0.06682	CTG	ZNF445	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185219		0.468	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2		0	27	0	G	NM_181489		44489119	-1			no_errors	ENST00000396077	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	T	T	44489119	G	T	44489119	3	4	47	1	0	0	0	0	1	0	0	0	17966	933	33	3	1055	3	ZNF445	3	44489119	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	11682912	44489119	153533311	47	11372											
SACM1L	22908	genome.wustl.edu	37	chr3	45761072	45761072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctgtttcagagctGgtgtgcgctattatgtaaga	9	12	15	5	1	1	2	1	0	0	2	1	4	1	4	0	3	3	5	0	3	3	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:45761072G>T	ENST00000389061.5	+	8	862	c.658G>T	c.(658-660)Ggt>Tgt	p.G220C	SACM1L_ENST00000541314.1_Missense_Mutation_p.G159C|SACM1L_ENST00000418611.1_Missense_Mutation_p.G117C	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	220	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTTCAGAGCTGGTGTGCGCTA	0.348																																																	0													136	134	135					3																	45761072		2203	4300	6503	SO:0001583	missense	0			AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.658G>T	3.37:g.45761072G>T	ENSP00000373713:p.Gly220Cys		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.G220C	ENST00000389061.5	37	c.658	CCDS33745.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.146630	0.94603	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314	T;T;T	0.75821	-0.97;-0.97;-0.97	5.66	5.66	0.87406	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	H	0.98407	4.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94896	0.8052	10	0.87932	D	0	-4.1742	19.7441	0.96245	0.0:0.0:1.0:0.0	.	159;220	B4DK71;Q9NTJ5	.;SAC1_HUMAN	C	117;220;159	ENSP00000396387:G117C;ENSP00000373713:G220C;ENSP00000443373:G159C	ENSP00000373713:G220C	G	+	1	0	SACM1L	45736076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.209000	0.95087	2.669000	0.90835	0.585000	0.79938	GGT	SACM1L	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000211456		0.348	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACM1L	HGNC	protein_coding	OTTHUMT00000345065.2	-	0	63	0	G	NM_014016		45761072	1	tier1	-	no_errors	ENST00000389061	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	45761072	G	T	45761072	3	4	47	1	0	0	0	0	1	0	0	0	13848	1348	47	3	688	3	SACM1L	3	45761072	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1271953	45761072	152261358	48	11373											
PRKCD	5580	genome.wustl.edu	37	chr3	53215231	53215231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccaacagctggacctGcagcctcaggccaaggtgtt	8	6	12	15	0	1	0	1	0	0	0	1	1	1	1	5	4	4	3	5	4	2	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:53215231G>T	ENST00000394729.2	+	4	652	c.324G>T	c.(322-324)ctG>ctT	p.L108L	PRKCD_ENST00000330452.3_Silent_p.L108L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	108					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGCTGGACCTGCAGCCTCAGG	0.632																																																	0													53	46	48					3																	53215231		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.324G>T	3.37:g.53215231G>T			B0KZ81|B2R834|Q15144|Q86XJ6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.L108	ENST00000394729.2	37	c.324	CCDS2870.1	3																																																																																			PRKCD	-	superfamily_C2_dom,pirsf_Prot_kin_PKC_delta	ENSG00000163932		0.632	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	-	0	30	0	G			53215231	1	tier1	-	no_errors	ENST00000330452	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.990	T	T	53215231	G	T	53215231	2	4	47	1	0	0	0	0	0	0	0	1	12551	1306	46	3		3	PRKCD	3	53215231	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	7454159	53215231	144807199	49	11374											
BOC	91653	genome.wustl.edu	37	chr3	112997068	112997068	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcagcttacaactgtgcgGgagagggccagacagccatg	10	6	15	10	1	0	2	0	0	0	2	0	3	0	2	2	3	5	2	2	3	2	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:112997068G>T	ENST00000495514.1	+	10	2370	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	BOC_ENST00000273395.4_Nonsense_Mutation_p.G557*|BOC_ENST00000355385.3_Nonsense_Mutation_p.G556*|BOC_ENST00000497495.1_3'UTR			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	556	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAACTGTGCGGGAGAGGGCCA	0.572																																																	0													115	99	104					3																	112997068		2203	4300	6503	SO:0001587	stop_gained	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1666G>T	3.37:g.112997068G>T	ENSP00000418663:p.Gly556*		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G557*	ENST00000495514.1	37	c.1669	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.893672	0.98994	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	.	.	.	5.8	5.8	0.92144	.	0.111451	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.0466	0.97609	0.0:0.0:1.0:0.0	.	.	.	.	X	556;557;556	.	ENSP00000273395:G557X	G	+	1	0	BOC	114479758	1.000000	0.71417	0.951000	0.38953	0.687000	0.40016	9.467000	0.97671	2.729000	0.93468	0.563000	0.77884	GGA	BOC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000144857		0.572	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3		0	32	0	G	NM_033254		112997068	1			no_errors	ENST00000273395	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	T	T	112997068	G	T	112997068	4	4	47	1	0	0	0	0	0	1	0	0	1483	1233	43	3	1696	3	BOC	3	112997068	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	59781837	112997068	85025362	50	11375											
KIAA2018	205717	genome.wustl.edu	37	chr3	113378995	113378995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatttaacttgtggctGggcaattagtggctgcatag	9	13	13	6	0	0	1	0	1	0	1	0	2	0	1	0	3	2	4	0	3	4	5	rs377114570		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:113378995G>T	ENST00000478658.1	-	5	1551	c.1534C>A	c.(1534-1536)Cag>Aag	p.Q512K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q512K			Q68DE3	K2018_HUMAN	KIAA2018	512						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACTTGTGGCTGGGCAATTAGT	0.443																																																	0													72	73	73					3																	113378995		1938	4156	6094	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1534C>A	3.37:g.113378995G>T	ENSP00000420721:p.Gln512Lys		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q512K	ENST00000478658.1	37	c.1534	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941984	0.34283	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.16597	2.33;2.33	5.2	5.2	0.72013	.	0.224327	0.37809	N	0.001923	T	0.13543	0.0328	L	0.34521	1.04	0.52099	D	0.999944	B	0.06786	0.001	B	0.08055	0.003	T	0.09122	-1.0689	10	0.15066	T	0.55	-1.3347	14.4641	0.67472	0.0:0.0:0.8523:0.1477	.	512	Q68DE3	K2018_HUMAN	K	512	ENSP00000320794:Q512K;ENSP00000420721:Q512K	ENSP00000320794:Q512K	Q	-	1	0	KIAA2018	114861685	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.697000	0.68295	2.415000	0.81967	0.557000	0.71058	CAG	KIAA2018	-	NULL	ENSG00000176542		0.443	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0	53	0	G	NM_001009899		113378995	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	113378995	G	T	113378995	3	4	47	1	0	0	0	0	1	0	0	0	8295	1357	47	3	5207	3	KIAA2018	3	113378995	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	381927	113378995	84643435	51	11376											
HEG1	57493	genome.wustl.edu	37	chr3	124729390	124729390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaagggttcacagcaCagctgttgactacaaacaca	16	6	9	10	0	1	2	1	1	0	1	1	3	1	2	0	1	4	4	0	1	4	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:124729390C>G	ENST00000311127.4	-	7	3033	c.2966G>C	c.(2965-2967)tGt>tCt	p.C989S	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	989	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTCACAGCACAGCTGTTGAC	0.478																																																	0													37	37	37					3																	124729390		1928	4130	6058	SO:0001583	missense	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2966G>C	3.37:g.124729390C>G	ENSP00000311502:p.Cys989Ser		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.C989S	ENST00000311127.4	37	c.2966	CCDS46898.1	3	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339209	0.41398	.	.	ENSG00000173706	ENST00000311127	D	0.99992	-12.4	4.99	4.99	0.66335	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.438282	0.16563	U	0.208979	D	0.99994	0.9999	H	0.94925	3.6	0.51767	D	0.999934	D	0.89917	1.0	D	0.91635	0.999	D	0.99974	1.2119	10	0.87932	D	0	.	13.9703	0.64235	0.0:1.0:0.0:0.0	.	989	Q9ULI3	HEG1_HUMAN	S	989	ENSP00000311502:C989S	ENSP00000311502:C989S	C	-	2	0	HEG1	126212080	0.991000	0.36638	0.949000	0.38748	0.030000	0.12068	3.610000	0.54125	2.752000	0.94435	0.655000	0.94253	TGT	HEG1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000173706		0.478	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	-	0	29	0	C	XM_087386		124729390	-1	tier1	-	no_errors	ENST00000311127	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.971	G	G	124729390	C	G	124729390	3	3	47	1	0	0	0	0	1	0	0	0	7071	478	17	5	1223	5	HEG1	3	124729390	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	11350395	124729390	73293040	52	11377											
WDR49	151790	genome.wustl.edu	37	chr3	167320043	167320043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggattccaaaggcaaacttTattgttaatgccagcagttg	12	12	10	7	0	0	0	0	0	0	0	1	1	1	1	2	2	3	4	2	2	4	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:167320043T>C	ENST00000308378.3	-	3	429	c.124A>G	c.(124-126)Aaa>Gaa	p.K42E	WDR49_ENST00000479765.1_Missense_Mutation_p.K383E|WDR49_ENST00000453925.2_Missense_Mutation_p.K95E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	42										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGCAAACTTTATTGTTAATG	0.383																																																	0													56	53	54					3																	167320043		2203	4300	6503	SO:0001583	missense	0			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"WD repeat domain containing"	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.124A>G	3.37:g.167320043T>C	ENSP00000311343:p.Lys42Glu		Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K42E	ENST00000308378.3	37	c.124	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.98|11.98	1.800542|1.800542	0.31869|0.31869	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000479765;ENST00000453925	.|T;T;T	.|0.29655	.|1.62;1.56;2.22	5.4|5.4	4.24|4.24	0.50183|0.50183	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.385818	.|0.26991	.|N	.|0.021473	T|T	0.23249|0.23249	0.0562|0.0562	L|L	0.50333|0.50333	1.59|1.59	0.26535|0.26535	N|N	0.974182|0.974182	.|P;P;P	.|0.36483	.|0.495;0.495;0.555	.|B;B;B	.|0.31290	.|0.09;0.09;0.127	T|T	0.14504|0.14504	-1.0470|-1.0470	5|10	.|0.37606	.|T	.|0.19	.|.	7.1197|7.1197	0.25437|0.25437	0.0:0.0786:0.1468:0.7746|0.0:0.0786:0.1468:0.7746	.|.	.|95;383;42	.|E7EQK3;E9PDB0;Q8IV35	.|.;.;WDR49_HUMAN	M|E	106|42;383;95	.|ENSP00000311343:K42E;ENSP00000419749:K383E;ENSP00000410863:K95E	.|ENSP00000311343:K42E	I|K	-|-	3|1	3|0	WDR49|WDR49	168802737|168802737	0.978000|0.978000	0.34361|0.34361	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.594000|0.594000	0.24014|0.24014	0.875000|0.875000	0.35847|0.35847	0.455000|0.455000	0.32223|0.32223	ATA|AAA	WDR49	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000174776		0.383	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3		0	59	0	T	NM_178824		167320043	-1			no_errors	ENST00000308378	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C	C	167320043	T	C	167320043	3	2	47	1	0	0	0	0	1	0	0	0	17351	1763	61	4	2021	4	WDR49	3	167320043	Missense_Mutation	SNP	T	TCGA-KH-A6WC-01A-11D-A33E-09	42590653	167320043	30702387	53	11378											
EIF4G1	1981	genome.wustl.edu	37	chr3	184042019	184042019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactacggaaaagccaacaGtgactgtgaacttccgaaag	15	6	9	11	2	0	2	0	2	0	0	1	4	1	3	3	1	4	0	3	1	6	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:184042019G>T	ENST00000346169.2	+	17	2774	c.2503G>T	c.(2503-2505)Gtg>Ttg	p.V835L	EIF4G1_ENST00000319274.6_Missense_Mutation_p.V835L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.V640L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.V842L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.V639L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.V672L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.V795L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.V842L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.V671L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.V749L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.V748L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.V796L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.V842L|EIF4G1_ENST00000342981.4_Missense_Mutation_p.V836L|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	835	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGCCAACAGTGACTGTGAA	0.453																																																	0													158	147	150					3																	184042019		2203	4300	6503	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2503G>T	3.37:g.184042019G>T	ENSP00000316879:p.Val835Leu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.V842L	ENST00000346169.2	37	c.2524	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637397	0.87760	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.71	5.71	0.89125	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.367792	0.29403	N	0.012241	T	0.40694	0.1127	M	0.68952	2.095	0.51012	D	0.999901	P;P;P;P	0.46064	0.872;0.8;0.8;0.8	P;P;P;P	0.53988	0.739;0.636;0.636;0.636	T	0.01218	-1.1415	10	0.28530	T	0.3	-16.3314	20.2469	0.98398	0.0:0.0:1.0:0.0	.	842;836;835;842	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	L	835;795;748;843;842;776;671;842;749;836;835;842;796;671;672;640;639	ENSP00000316879:V835L;ENSP00000391935:V795L;ENSP00000376320:V748L;ENSP00000413159:V843L;ENSP00000371767:V842L;ENSP00000403269:V776L;ENSP00000317600:V671L;ENSP00000338020:V842L;ENSP00000407682:V749L;ENSP00000343450:V836L;ENSP00000323737:V835L;ENSP00000416255:V842L;ENSP00000395974:V796L;ENSP00000398145:V671L;ENSP00000399858:V672L;ENSP00000411826:V640L;ENSP00000404754:V639L	ENSP00000323737:V835L	V	+	1	0	EIF4G1	185524713	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.787000	0.75099	2.873000	0.98535	0.561000	0.74099	GTG	EIF4G1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000114867		0.453	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	-	0	51	0	G	NM_182917		184042019	1	tier1	-	no_errors	ENST00000352767	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	184042019	G	T	184042019	3	4	47	1	0	0	0	0	1	0	0	0	5052	1029	36	3	2561	3	EIF4G1	3	184042019	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	16721976	184042019	13980411	54	11379											
EIF4G1	1981	genome.wustl.edu	37	chr3	184049760	184049760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccctccgagtggacgttGcagtgctgaaagcgcgagcg	7	7	14	13	5	0	1	0	1	0	0	2	4	2	2	3	1	4	3	3	1	1	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:184049760G>T	ENST00000346169.2	+	32	4775	c.4504G>T	c.(4504-4506)Gca>Tca	p.A1502S	EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1502S|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A1307S|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1509S|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A1306S|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A1339S|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1462S|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1509S|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A1338S|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1416S|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1415S|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1463S|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1509S|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A1503S	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1502	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTGGACGTTGCAGTGCTGAA	0.567																																																	0													66	65	65					3																	184049760		2203	4300	6503	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4504G>T	3.37:g.184049760G>T	ENSP00000316879:p.Ala1502Ser		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.A1509S	ENST00000346169.2	37	c.4525	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943613	0.34283	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.04049	3.93;3.92;3.84;3.92;3.73;3.92;3.84;3.92;3.93;3.92;3.92;3.73;3.72;3.72	4.78	1.69	0.24217	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.887861	0.09954	N	0.734250	T	0.04003	0.0112	L	0.42686	1.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.006;0.006	T	0.50154	-0.8861	10	0.12103	T	0.63	-0.5328	2.4098	0.04421	0.1576:0.2964:0.403:0.1431	.	1509;1503;1502	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	S	1502;1462;1415;1509;1338;1509;1416;1503;1502;1509;1463;1339;1307;1306	ENSP00000316879:A1502S;ENSP00000391935:A1462S;ENSP00000376320:A1415S;ENSP00000371767:A1509S;ENSP00000317600:A1338S;ENSP00000338020:A1509S;ENSP00000407682:A1416S;ENSP00000343450:A1503S;ENSP00000323737:A1502S;ENSP00000416255:A1509S;ENSP00000395974:A1463S;ENSP00000399858:A1339S;ENSP00000411826:A1307S;ENSP00000404754:A1306S	ENSP00000323737:A1502S	A	+	1	0	EIF4G1	185532454	0.000000	0.05858	0.171000	0.22900	0.940000	0.58332	-0.314000	0.08092	0.021000	0.15133	0.449000	0.29647	GCA	EIF4G1	-	superfamily_ARM-type_fold	ENSG00000114867		0.567	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0	17	0	G	NM_182917		184049760	1			no_errors	ENST00000352767	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.057	T	T	184049760	G	T	184049760	3	4	47	1	0	0	0	0	1	0	0	0	5052	1319	46	3	4622	3	EIF4G1	3	184049760	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	7741	184049760	13972670	55	11380											
MAP3K13	9175	genome.wustl.edu	37	chr3	185165697	185165697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggatggcgccagaggtGatacggaatgaacctgtctc	10	8	14	9	2	1	3	0	2	1	1	2	5	1	5	2	4	2	1	2	4	3	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr3:185165697G>T	ENST00000265026.3	+	5	1306	c.972G>T	c.(970-972)gtG>gtT	p.V324V	MAP3K13_ENST00000446828.1_Silent_p.V117V|MAP3K13_ENST00000424227.1_Silent_p.V324V|MAP3K13_ENST00000443863.1_Silent_p.V180V|MAP3K13_ENST00000535426.1_Silent_p.V180V	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CGCCAGAGGTGATACGGAATG	0.453																																																	0													70	66	68					3																	185165697		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.972G>T	3.37:g.185165697G>T				Silent	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V324	ENST00000265026.3	37	c.972	CCDS3270.1	3																																																																																			MAP3K13	-	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000073803		0.453	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1		0	51	0	G	NM_004721		185165697	1			no_errors	ENST00000265026	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T	T	185165697	G	T	185165697	2	4	47	1	0	0	0	0	0	0	0	1	9285	1277	45	3		3	MAP3K13	3	185165697	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1115937	185165697	12856733	56	11381											
ZNF732	654254	genome.wustl.edu	37	chr4	265587	265587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtatgaattctCttatgttcattcagaactga	10	17	5	9	0	4	3	2	2	2	1	7	3	5	3	1	0	1	2	1	0	4	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:265587C>A	ENST00000419098.1	-	4	1069	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TATGAATTCTCTTATGTTCAT	0.393																																																	0													43	40	41					4																	265587		692	1591	2283	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1059G>T	4.37:g.265587C>A	ENSP00000415774:p.Lys353Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K353N	ENST00000419098.1	37	c.1059	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	C	0.577	-0.838694	0.02692	.	.	ENSG00000186777	ENST00000419098	T	0.51817	0.69	0.977	-1.95	0.07548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50446	0.1616	L	0.41124	1.26	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.40997	-0.9533	9	0.72032	D	0.01	.	2.8075	0.05431	0.2585:0.5012:0.0:0.2402	.	353	B4DXR9	ZN732_HUMAN	N	353	ENSP00000415774:K353N	ENSP00000415774:K353N	K	-	3	2	ZNF732	255587	0.000000	0.05858	0.063000	0.19743	0.055000	0.15305	0.122000	0.15687	-0.502000	0.06596	-0.497000	0.04613	AAG	ZNF732	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.393	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	-	0	40	0	C	NM_001137608		265587	-1	tier1	-	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.016	A	A	265587	C	A	265587	3	1	47	1	0	0	0	0	1	0	0	0	18171	912	32	3	702	3	ZNF732	4	265587	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09		265587	190888689	57	11382											
TADA2B	93624	genome.wustl.edu	37	chr4	7055887	7055887	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacctggggaaggcctgCatccccgacaccatccccaa	10	4	11	16	1	0	0	0	0	0	0	2	3	2	2	7	4	2	1	7	4	3	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:7055887C>A	ENST00000310074.7	+	2	558	c.369C>A	c.(367-369)tgC>tgA	p.C123*	TADA2B_ENST00000515646.1_Nonsense_Mutation_p.C31*|TADA2B_ENST00000512388.1_Nonsense_Mutation_p.C48*	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	123					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGAAGGCCTGCATCCCCGACA	0.637																																																	0													28	33	32					4																	7055887		2101	4213	6314	SO:0001587	stop_gained	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.369C>A	4.37:g.7055887C>A	ENSP00000308022:p.Cys123*		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Nonsense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.C123*	ENST00000310074.7	37	c.369	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.788127	0.96945	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	.	.	.	5.33	3.56	0.40772	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-53.5566	12.4377	0.55608	0.0:0.8582:0.0:0.1418	.	.	.	.	X	31;123;48;31;31	.	ENSP00000308022:C123X	C	+	3	2	TADA2B	7106788	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.182000	0.42556	1.225000	0.43566	0.561000	0.74099	TGC	TADA2B	-	pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.637	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2		0	64	0	C	NM_152293		7055887	1			no_errors	ENST00000310074	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	A	A	7055887	C	A	7055887	4	1	47	1	0	0	0	0	0	1	0	0	15558	718	25	3	375	3	TADA2B	4	7055887	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	6790300	7055887	184098389	58	11383											
RBM47	54502	genome.wustl.edu	37	chr4	40428047	40428047	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcttctgtagtgtggcGatcgtggctgtagctggagc	4	13	16	8	3	2	0	0	0	2	0	3	2	2	1	0	3	2	5	0	3	2	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:40428047G>T	ENST00000381793.2	-	6	2052	c.1656C>A	c.(1654-1656)atC>atA	p.I552I	RBM47_ENST00000319592.4_Silent_p.I483I|RBM47_ENST00000514014.1_Silent_p.I514I|RP11-588L15.2_ENST00000514187.1_RNA|RBM47_ENST00000381795.6_Silent_p.I483I|RBM47_ENST00000295971.7_Silent_p.I552I			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	552	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTAGTGTGGCGATCGTGGCTG	0.587																																																	0													84	74	77					4																	40428047		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1656C>A	4.37:g.40428047G>T			A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.I552	ENST00000381793.2	37	c.1656	CCDS43223.1	4																																																																																			RBM47	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.587	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2		0	41	0	G	NM_019027		40428047	-1			no_errors	ENST00000295971	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.993	T	T	40428047	G	T	40428047	2	4	47	1	0	0	0	0	0	0	0	1	13186	1048	37	2		2	RBM47	4	40428047	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	33372160	40428047	150726229	59	11384											
FRYL	285527	genome.wustl.edu	37	chr4	48525101	48525101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcgaactccccagttGaaattgtccatactttcacc	9	11	6	15	2	1	1	1	1	0	0	3	2	3	1	5	0	3	1	5	0	3	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:48525101G>T	ENST00000503238.1	-	51	7337	c.7338C>A	c.(7336-7338)ttC>ttA	p.F2446L	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.F2446L|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.F2446L			O94915	FRYL_HUMAN	FRY-like	2446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCCCCAGTTGAAATTGTCCA	0.448																																																	0													82	82	82					4																	48525101		1868	4114	5982	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7338C>A	4.37:g.48525101G>T	ENSP00000426064:p.Phe2446Leu		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F2446L	ENST00000503238.1	37	c.7338	CCDS43227.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.510096|4.510096	0.85282|0.85282	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810|ENST00000514617	T;T;T|.	0.52983|.	0.64;0.64;0.64|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.051297|.	0.85682|.	D|.	0.000000|.	T|T	0.75613|0.75613	0.3873|0.3873	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	B;P;P|.	0.48230|.	0.172;0.752;0.907|.	B;B;P|.	0.49332|.	0.058;0.403;0.607|.	T|T	0.74740|0.74740	-0.3563|-0.3563	10|5	0.72032|.	D|.	0.01|.	.|.	18.6932|18.6932	0.91590|0.91590	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1276;2446;2446|.	Q6ZR29;O94915;F5GX82|.	.;FRYL_HUMAN;.|.	L|K	2446|1316	ENSP00000426064:F2446L;ENSP00000351113:F2446L;ENSP00000441114:F2446L|.	ENSP00000351113:F2446L|.	F|Q	-|-	3|1	2|0	FRYL|FRYL	48219858|48219858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.898000|0.898000	0.52572|0.52572	3.930000|3.930000	0.56522|0.56522	2.645000|2.645000	0.89757|0.89757	0.460000|0.460000	0.39030|0.39030	TTC|CAA	FRYL	-	NULL	ENSG00000075539		0.448	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	21	0	G			48525101	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T	T	48525101	G	T	48525101	3	4	47	1	0	0	0	0	1	0	0	0	6088	1281	45	3	1747	3	FRYL	4	48525101	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	8097054	48525101	142629175	60	11385											
CCDC158	339965	genome.wustl.edu	37	chr4	77303786	77303786	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatttccatttgactctgGatactattggcttggcttcg	7	17	9	8	1	1	2	0	2	1	0	3	3	2	3	1	3	1	2	1	3	2	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:77303786G>T	ENST00000388914.3	-	7	1043	c.891C>A	c.(889-891)atC>atA	p.I297I	CCDC158_ENST00000434846.2_Silent_p.I297I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	297			I -> V (in dbSNP:rs17001885).							breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTGACTCTGGATACTATTGG	0.323																																																	0													125	122	123					4																	77303786		1865	4103	5968	SO:0001819	synonymous_variant	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.891C>A	4.37:g.77303786G>T			Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	superfamily_Prefoldin	p.I297	ENST00000388914.3	37	c.891	CCDS43242.1	4																																																																																			CCDC158	-	NULL	ENSG00000163749		0.323	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	-	0	58	0	G	NM_001042784		77303786	-1	tier1	-	no_errors	ENST00000388914	ensembl	human	known	74_37	silent	11.43	31	4	SNP	1.000	T	T	77303786	G	T	77303786	2	4	47	1	0	0	0	0	0	0	0	1	2797	1164	41	3		3	CCDC158	4	77303786	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	28778685	77303786	113850490	61	11386											
SCD5	79966	genome.wustl.edu	37	chr4	83557883	83557883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcggagaatagaggccaaGaagtaggaattccacagact	16	6	12	7	1	0	4	0	0	0	4	1	6	1	5	2	3	1	1	2	3	7	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:83557883G>T	ENST00000319540.4	-	4	982	c.663C>A	c.(661-663)ttC>ttA	p.F221L		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	221					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TAGAGGCCAAGAAGTAGGAAT	0.532																																																	0													110	97	101					4																	83557883		2203	4300	6503	SO:0001583	missense	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.663C>A	4.37:g.83557883G>T	ENSP00000316329:p.Phe221Leu		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.F221L	ENST00000319540.4	37	c.663	CCDS34024.1	4	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065543	0.36470	.	.	ENSG00000145284	ENST00000319540	T	0.13420	2.59	4.94	3.19	0.36642	Fatty acid desaturase, type 1 (1);	0.094927	0.85682	N	0.000000	T	0.10723	0.0262	L	0.31752	0.955	0.80722	D	1	B	0.24721	0.11	B	0.31016	0.123	T	0.13548	-1.0505	10	0.39692	T	0.17	-2.2591	8.3584	0.32344	0.3052:0.0:0.6948:0.0	.	221	Q86SK9	SCD5_HUMAN	L	221	ENSP00000316329:F221L	ENSP00000316329:F221L	F	-	3	2	SCD5	83776907	0.997000	0.39634	0.940000	0.37924	0.534000	0.34807	2.299000	0.43611	0.760000	0.33108	0.561000	0.74099	TTC	SCD5	-	pfam_Fatty_acid_desaturase-1	ENSG00000145284		0.532	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	-	0	47	0	G	NM_024906		83557883	-1	tier1	-	no_errors	ENST00000319540	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.937	T	T	83557883	G	T	83557883	3	4	47	1	0	0	0	0	1	0	0	0	13932	933	33	3	337	3	SCD5	4	83557883	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	6254097	83557883	107596393	62	11387											
ADH7	131	genome.wustl.edu	37	chr4	100341790	100341790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtagagtccttgggaCtgatacactcagtggcacct	8	12	12	9	0	1	2	1	1	0	1	2	3	2	3	2	3	1	3	2	3	2	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:100341790C>A	ENST00000209665.4	-	6	1001	c.761G>T	c.(760-762)aGt>aTt	p.S254I	ADH7_ENST00000482593.1_Missense_Mutation_p.S185I|ADH7_ENST00000476959.1_Missense_Mutation_p.S262I|ADH7_ENST00000437033.2_Missense_Mutation_p.S242I	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	254					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GTCCTTGGGACTGATACACTC	0.473																																																	0													173	143	153					4																	100341790		2203	4300	6503	SO:0001583	missense	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.761G>T	4.37:g.100341790C>A	ENSP00000209665:p.Ser254Ile		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.S254I	ENST00000209665.4	37	c.761	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317471	0.40996	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	3.8	-0.597	0.11653	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.212220	0.46758	N	0.000265	T	0.07999	0.0200	L	0.29908	0.895	0.35353	D	0.787572	D	0.71674	0.998	D	0.80764	0.994	T	0.37934	-0.9684	10	0.87932	D	0	-17.8822	3.2647	0.06860	0.2003:0.2485:0.0:0.5512	.	254	P40394	ADH7_HUMAN	I	242;254;185;262	ENSP00000414254:S242I;ENSP00000209665:S254I;ENSP00000420613:S185I;ENSP00000420269:S262I	ENSP00000209665:S254I	S	-	2	0	ADH7	100560813	0.946000	0.32159	0.583000	0.28640	0.288000	0.27193	0.187000	0.16998	-0.044000	0.13491	0.563000	0.77884	AGT	ADH7	-	pfam_ADH_C	ENSG00000196344		0.473	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding			0	60	0	C	NM_000673		100341790	-1			no_errors	ENST00000209665	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	100341790	C	A	100341790	3	1	47	1	0	0	0	0	1	0	0	0	313	565	20	3	415	3	ADH7	4	100341790	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	16783907	100341790	90812486	63	11388											
TACR3	6870	genome.wustl.edu	37	chr4	104640394	104640394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaccactcgctatgaaGcgcgtagatgaaattgacca	15	8	9	9	3	0	4	0	3	0	1	1	4	0	4	2	0	2	3	2	0	6	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:104640394G>T	ENST00000304883.2	-	1	579	c.439C>A	c.(439-441)Ctt>Att	p.L147I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	147					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCGCTATGAAGCGCGTAGATG	0.532																																																	0													105	96	99					4																	104640394		2203	4300	6503	SO:0001583	missense	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.439C>A	4.37:g.104640394G>T	ENSP00000303325:p.Leu147Ile		Q0P510	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.L147I	ENST00000304883.2	37	c.439	CCDS3664.1	4	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280824	0.40394	.	.	ENSG00000169836	ENST00000304883	T	0.27890	1.64	5.26	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.472054	0.22766	N	0.055898	T	0.19208	0.0461	N	0.11023	0.085	0.35183	D	0.772663	B	0.20368	0.044	B	0.25614	0.062	T	0.13548	-1.0505	10	0.23891	T	0.37	.	15.199	0.73120	0.0:0.1408:0.8592:0.0	.	147	P29371	NK3R_HUMAN	I	147	ENSP00000303325:L147I	ENSP00000303325:L147I	L	-	1	0	TACR3	104859843	0.961000	0.32948	0.993000	0.49108	0.924000	0.55760	1.618000	0.36954	1.181000	0.42912	0.591000	0.81541	CTT	TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000169836		0.532	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	-	0	32	0	G	NM_001059		104640394	-1	tier1	-	no_errors	ENST00000304883	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.971	T	T	104640394	G	T	104640394	3	4	47	1	0	0	0	0	1	0	0	0	15554	971	34	3	978	3	TACR3	4	104640394	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4298604	104640394	86513882	64	11389											
FAM198B	51313	genome.wustl.edu	37	chr4	159092463	159092463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagagcttacgcaccCgcgggacgcacagggagcag	9	4	14	14	4	0	1	0	0	0	1	1	3	1	3	2	2	4	5	2	2	1	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:159092463C>A	ENST00000296530.8	-	2	686	c.65G>T	c.(64-66)cGg>cTg	p.R22L	RP11-597D13.9_ENST00000509463.1_RNA|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000585682.1_Missense_Mutation_p.R22L|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22L|FAM198B_ENST00000393807.5_Missense_Mutation_p.R22L|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	22						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R22P(3)|p.R22L(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CTTACGCACCCGCGGGACGCA	0.587																																																	5	Substitution - Missense(5)	urinary_tract(3)|skin(2)																																								SO:0001583	missense	0				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.65G>T	4.37:g.159092463C>A	ENSP00000296530:p.Arg22Leu		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	NULL	p.R22L	ENST00000296530.8	37	c.65	CCDS3798.1	4	.	.	.	.	.	.	.	.	.	.	C	14.46	2.540794	0.45280	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.28895	1.59;1.59	5.31	5.31	0.75309	.	0.462866	0.22223	N	0.062921	T	0.50222	0.1603	L	0.54323	1.7	0.21762	N	0.99955	D;B;B	0.69078	0.997;0.015;0.015	D;B;B	0.63703	0.917;0.013;0.008	T	0.37641	-0.9697	10	0.37606	T	0.19	0.2039	19.1738	0.93594	0.0:1.0:0.0:0.0	.	22;22;22	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	L	22	ENSP00000296530:R22L;ENSP00000377396:R22L	ENSP00000296530:R22L	R	-	2	0	FAM198B	159311913	0.005000	0.15991	0.089000	0.20774	0.784000	0.44337	1.677000	0.37576	2.764000	0.94973	0.655000	0.94253	CGG	FAM198B	-	NULL	ENSG00000164125		0.587	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1		0	42	0	C	NM_001031700, NM_016613		159092463	-1			no_errors	ENST00000393807	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.267	A	A	159092463	C	A	159092463	3	1	47	1	0	0	0	0	1	0	0	0	5548	652	23	2	1615	2	FAM198B	4	159092463	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	54452069	159092463	32061813	65	11390											
WDR17	116966	genome.wustl.edu	37	chr4	177067295	177067295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagggaattctttgcaGtggttctgatgatgggtatg	9	13	16	3	0	2	3	0	2	2	1	2	6	2	4	0	3	1	3	0	3	2	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr4:177067295G>T	ENST00000280190.4	+	13	1907	c.1751G>T	c.(1750-1752)aGt>aTt	p.S584I	WDR17_ENST00000393643.2_Missense_Mutation_p.S560I|WDR17_ENST00000508596.1_Missense_Mutation_p.S560I|WDR17_ENST00000507824.2_Missense_Mutation_p.S567I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	584										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTCTTTGCAGTGGTTCTGAT	0.348																																																	0													131	125	127					4																	177067295		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1751G>T	4.37:g.177067295G>T	ENSP00000280190:p.Ser584Ile		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S584I	ENST00000280190.4	37	c.1751	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785269	0.70337	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.72282	-0.64;-0.64;-0.64	5.15	5.15	0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.114352	0.64402	D	0.000013	D	0.88621	0.6486	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91672	0.5351	10	0.87932	D	0	-24.4945	18.6126	0.91291	0.0:0.0:1.0:0.0	.	560;584	E7EQX0;Q8IZU2	.;WDR17_HUMAN	I	560;560;584;567	ENSP00000422763:S560I;ENSP00000377258:S560I;ENSP00000280190:S584I	ENSP00000280190:S584I	S	+	2	0	WDR17	177304289	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.618000	0.74214	2.391000	0.81399	0.563000	0.77884	AGT	WDR17	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000150627		0.348	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0	109	0	G			177067295	1			no_errors	ENST00000280190	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	177067295	G	T	177067295	3	4	47	1	0	0	0	0	1	0	0	0	17326	1029	36	3	1797	3	WDR17	4	177067295	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	17974832	177067295	14086981	66	11391											
MARCH6	10299	genome.wustl.edu	37	chr5	10410323	10410323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagcattactcgaacaGggacacacgaggcagtggct	11	7	12	11	2	0	0	0	0	0	0	1	3	0	1	1	3	4	3	1	3	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:10410323G>T	ENST00000274140.5	+	18	1758	c.1626G>T	c.(1624-1626)caG>caT	p.Q542H	MARCH6_ENST00000510792.1_Missense_Mutation_p.Q240H|MARCH6_ENST00000449913.2_Missense_Mutation_p.Q494H|MARCH6_ENST00000503788.1_Missense_Mutation_p.Q437H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	542					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TACTCGAACAGGGACACACGA	0.542																																																	0													140	122	128					5																	10410323		2203	4300	6503	SO:0001583	missense	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1626G>T	5.37:g.10410323G>T	ENSP00000274140:p.Gln542His		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.Q542H	ENST00000274140.5	37	c.1626	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636646	0.47049	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.7	1.42	0.22433	.	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	L	0.58428	1.81	0.80722	D	1	D;D;D;D	0.89917	0.965;1.0;0.999;1.0	P;D;D;D	0.91635	0.69;0.999;0.997;0.99	T	0.43766	-0.9371	10	0.12766	T	0.61	-20.3005	8.0412	0.30523	0.5224:0.0:0.4776:0.0	.	437;494;122;542	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	H	494;437;542;240	ENSP00000414643:Q494H;ENSP00000425930:Q437H;ENSP00000274140:Q542H;ENSP00000424512:Q240H	ENSP00000274140:Q542H	Q	+	3	2	MARCH6	10463323	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	1.339000	0.33885	0.349000	0.23975	-0.140000	0.14226	CAG	MARCH6	-	NULL	ENSG00000145495		0.542	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	-	0	38	0	G	NM_005885		10410323	1	tier1	-	no_errors	ENST00000274140	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	10410323	G	T	10410323	3	4	47	1	0	0	0	0	1	0	0	0	9343	991	35	3	1696	3	MARCH6	5	10410323	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		10410323	170504937	67	11392											
DNAH5	1767	genome.wustl.edu	37	chr5	13839571	13839571	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcttgtcagaatcttCgttaaagtaaaatctgcact	13	14	5	9	1	5	1	2	0	3	1	6	1	5	1	0	0	1	3	0	0	5	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:13839571C>A	ENST00000265104.4	-	35	5880	c.5776G>T	c.(5776-5778)Gaa>Taa	p.E1926*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1926	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGAATCTTCGTTAAAGTAA	0.383									Kartagener syndrome																																								0													117	113	115					5																	13839571		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5776G>T	5.37:g.13839571C>A	ENSP00000265104:p.Glu1926*		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E1926*	ENST00000265104.4	37	c.5776	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	48	14.129725	0.99781	.	.	ENSG00000039139	ENST00000265104	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.1545	0.86787	0.0:1.0:0.0:0.0	.	.	.	.	X	1926	.	ENSP00000265104:E1926X	E	-	1	0	DNAH5	13892571	1.000000	0.71417	0.993000	0.49108	0.982000	0.71751	7.792000	0.85828	2.300000	0.77407	0.650000	0.86243	GAA	DNAH5	-	NULL	ENSG00000039139		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	36	0	C	NM_001369		13839571	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	1.000	A	A	13839571	C	A	13839571	4	1	47	1	0	0	0	0	0	1	0	0	4618	893	31	2	8278	2	DNAH5	5	13839571	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	3429248	13839571	167075689	68	11393											
TRIO	7204	genome.wustl.edu	37	chr5	14336722	14336722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaatgtgaccccgaagaGatttatcaggctgcccatca	11	8	12	10	1	2	2	2	1	0	1	2	5	2	3	3	3	1	1	3	3	3	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:14336722G>T	ENST00000344204.4	+	11	1956	c.1932G>T	c.(1930-1932)gaG>gaT	p.E644D	TRIO_ENST00000537187.1_Missense_Mutation_p.E644D|TRIO_ENST00000509967.2_Missense_Mutation_p.E595D	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	644					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCCCGAAGAGATTTATCAGG	0.498																																																	0													103	92	96					5																	14336722		2203	4300	6503	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1932G>T	5.37:g.14336722G>T	ENSP00000339299:p.Glu644Asp		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E644D	ENST00000344204.4	37	c.1932	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222017	0.58560	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.41758	0.99;0.99;0.99	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.31420	0.93	0.58432	D	0.999992	D;D;D	0.76494	0.997;0.999;0.992	D;D;D	0.85130	0.967;0.997;0.989	T	0.45249	-0.9274	10	0.45353	T	0.12	.	9.3611	0.38197	0.1648:0.0:0.8352:0.0	.	595;644;644	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	D	644;644;595;331	ENSP00000339299:E644D;ENSP00000446348:E644D;ENSP00000445592:E595D	ENSP00000339299:E644D	E	+	3	2	TRIO	14389722	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.036000	0.57304	2.471000	0.83476	0.650000	0.86243	GAG	TRIO	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000038382		0.498	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0	62	0	G	NM_007118		14336722	1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	14336722	G	T	14336722	3	4	47	1	0	0	0	0	1	0	0	0	16600	933	33	3	1974	3	TRIO	5	14336722	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	497151	14336722	166578538	69	11394											
CDH6	1004	genome.wustl.edu	37	chr5	31323323	31323323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagtgaccacggatgcaGatcaagactatgattacctt	13	10	9	9	1	2	4	2	2	0	2	2	5	2	5	2	1	2	1	2	1	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:31323323G>T	ENST00000265071.2	+	12	2546	c.2281G>T	c.(2281-2283)Gat>Tat	p.D761Y		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	761					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGGATGCAGATCAAGACTA	0.527																																																	0													71	63	66					5																	31323323		2203	4300	6503	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2281G>T	5.37:g.31323323G>T	ENSP00000265071:p.Asp761Tyr		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D761Y	ENST00000265071.2	37	c.2281	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646234	0.87958	.	.	ENSG00000113361	ENST00000265071	T	0.79554	-1.28	5.55	5.55	0.83447	Cadherin, cytoplasmic domain (1);	0.041259	0.85682	D	0.000000	D	0.92916	0.7746	M	0.94142	3.5	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.94234	0.7479	10	0.87932	D	0	.	19.8741	0.96863	0.0:0.0:1.0:0.0	.	761	P55285	CADH6_HUMAN	Y	761	ENSP00000265071:D761Y	ENSP00000265071:D761Y	D	+	1	0	CDH6	31359080	1.000000	0.71417	0.908000	0.35775	0.917000	0.54804	9.809000	0.99208	2.761000	0.94854	0.655000	0.94253	GAT	CDH6	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113361		0.527	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0	54	0	G	NM_004932		31323323	1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	31323323	G	T	31323323	3	4	47	1	0	0	0	0	1	0	0	0	3121	942	33	3	2323	3	CDH6	5	31323323	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	16986601	31323323	149591937	70	11395											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33642025	33642025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaatgctctctggtttCttccccactgtgatgcactt	6	14	8	13	0	2	1	0	1	2	0	4	2	3	2	3	2	2	3	3	2	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:33642025C>A	ENST00000504830.1	-	11	1943	c.1608G>T	c.(1606-1608)aaG>aaT	p.K536N	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K536N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	536	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCTGGTTTCTTCCCCACTG	0.597										HNSCC(64;0.19)																																							0													61	52	55					5																	33642025		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1608G>T	5.37:g.33642025C>A	ENSP00000422554:p.Lys536Asn		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K536N	ENST00000504830.1	37	c.1608	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979908	0.34942	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60040	0.22;0.25	5.93	5.07	0.68467	.	0.091919	0.64402	D	0.000001	T	0.64080	0.2566	L	0.41961	1.31	0.80722	D	1	D;P	0.76494	0.999;0.885	D;P	0.69479	0.964;0.449	T	0.60234	-0.7303	10	0.23302	T	0.38	.	10.338	0.43860	0.0:0.7957:0.0:0.2043	.	536;536	P58397-3;P58397	.;ATS12_HUMAN	N	536	ENSP00000422554:K536N;ENSP00000344847:K536N	ENSP00000344847:K536N	K	-	3	2	ADAMTS12	33677782	0.993000	0.37304	1.000000	0.80357	0.950000	0.60333	0.666000	0.25097	1.531000	0.49152	0.555000	0.69702	AAG	ADAMTS12	-	NULL	ENSG00000151388		0.597	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2		0	36	0	C	NM_030955		33642025	-1			no_errors	ENST00000504830	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	33642025	C	A	33642025	3	1	47	1	0	0	0	0	1	0	0	0	257	912	32	3	3232	3	ADAMTS12	5	33642025	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	2318702	33642025	147273235	71	11396											
SPEF2	79925	genome.wustl.edu	37	chr5	35705819	35705819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagccagaaaatattttGataaaaatcaatgctgaaat	19	11	6	5	0	2	4	2	2	0	2	2	4	2	4	1	0	2	1	1	0	8	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:35705819G>T	ENST00000356031.3	+	18	2728	c.2574G>T	c.(2572-2574)ttG>ttT	p.L858F	SPEF2_ENST00000509059.1_Missense_Mutation_p.L853F|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.L853F	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	858					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAATATTTTGATAAAAATCA	0.279																																																	0													47	42	43					5																	35705819		1783	4053	5836	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2574G>T	5.37:g.35705819G>T	ENSP00000348314:p.Leu858Phe		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.L858F	ENST00000356031.3	37	c.2574	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374381	0.61735	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.77	0.98	0.19750	.	0.000000	0.64402	D	0.000002	T	0.50257	0.1605	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.49615	-0.8921	10	0.87932	D	0	.	7.9741	0.30145	0.4623:0.0:0.5377:0.0	.	853;853;858	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	F	858;853;853;364	ENSP00000348314:L858F;ENSP00000421593:L853F;ENSP00000412125:L853F;ENSP00000421744:L364F	ENSP00000348314:L858F	L	+	3	2	SPEF2	35741576	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	1.824000	0.39072	0.379000	0.24794	-0.781000	0.03364	TTG	SPEF2	-	superfamily_P-loop_NTPase	ENSG00000152582		0.279	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	54	0	G	NM_144722		35705819	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.998	T	T	35705819	G	T	35705819	3	4	47	1	0	0	0	0	1	0	0	0	15082	1281	45	3	2665	3	SPEF2	5	35705819	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2063794	35705819	145209441	72	11397											
DIMT1L	27292	genome.wustl.edu	37	chr5	61689848	61689848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggattccaccttgggCggtggtctgaagttattctt	7	14	11	9	1	2	1	0	1	2	0	3	2	3	2	2	4	0	1	2	4	2	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:61689848C>T	ENST00000199320.4	-	8	757	c.597G>A	c.(595-597)ccG>ccA	p.P199P	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Silent_p.P199P	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	199						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										CCACCTTGGGCGGTGGTCTGA	0.383																																																	0													119	118	118					5																	61689848		2203	4300	6503	SO:0001819	synonymous_variant	0			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.597G>A	5.37:g.61689848C>T			O76025|Q9BU77|Q9UES1	Silent	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	p.P199	ENST00000199320.4	37	c.597	CCDS3981.1	5																																																																																			DIMT1	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	ENSG00000086189		0.383	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIMT1	HGNC	protein_coding	OTTHUMT00000253967.1	-	0	46	0	C	NM_014473		61689848	-1	tier1	-	no_errors	ENST00000199320	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.996	T	T	61689848	C	T	61689848	2	4	47	1	0	0	0	0	0	0	0	1	4537	755	27	1		1	DIMT1L	5	61689848	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	25984029	61689848	119225412	73	11398											
MAP1B	4131	genome.wustl.edu	37	chr5	71490959	71490959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taatggtgaaaaaagacaagCcaataaaaacagagaccaaa	24	4	7	6	0	0	3	0	1	0	2	0	4	0	3	2	1	2	0	2	1	10	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:71490959C>A	ENST00000296755.7	+	5	2075	c.1777C>A	c.(1777-1779)Cca>Aca	p.P593T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	593	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAAAGACAAGCCAATAAAAAC	0.453																																					Melanoma(17;367 822 11631 31730 47712)												0													56	59	58					5																	71490959		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.1777C>A	5.37:g.71490959C>A	ENSP00000296755:p.Pro593Thr		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P593T	ENST00000296755.7	37	c.1777	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979346	0.34942	.	.	ENSG00000131711	ENST00000296755;ENST00000511641;ENST00000504492	T;T;T	0.03607	3.87;3.87;3.87	5.81	5.81	0.92471	.	0.186146	0.38720	N	0.001597	T	0.04363	0.0120	L	0.40543	1.245	0.32864	D	0.508323	B;B	0.29716	0.255;0.255	B;B	0.27262	0.078;0.078	T	0.10109	-1.0644	10	0.46703	T	0.11	-10.8736	11.4249	0.50004	0.1383:0.7281:0.1336:0.0	.	467;593	A2BDK6;P46821	.;MAP1B_HUMAN	T	593;610;467	ENSP00000296755:P593T;ENSP00000423444:P610T;ENSP00000423416:P467T	ENSP00000296755:P593T	P	+	1	0	MAP1B	71526715	0.998000	0.40836	0.999000	0.59377	0.980000	0.70556	1.847000	0.39299	2.746000	0.94184	0.655000	0.94253	CCA	MAP1B	-	NULL	ENSG00000131711		0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	66	0	C	NM_005909		71490959	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	71490959	C	A	71490959	3	1	47	1	0	0	0	0	1	0	0	0	9266	739	26	3	1795	3	MAP1B	5	71490959	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	9801111	71490959	109424301	74	11399											
FCHO2	115548	genome.wustl.edu	37	chr5	72337134	72337134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggaatgtcctgatgcaGattcattggtaagtagattt	12	14	11	4	0	1	3	1	1	0	2	2	4	2	4	1	2	1	3	1	2	4	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:72337134G>T	ENST00000430046.2	+	11	1047	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	FCHO2_ENST00000341845.6_Missense_Mutation_p.D311Y|FCHO2_ENST00000512348.1_Missense_Mutation_p.D278Y	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	311					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCCTGATGCAGATTCATTGGT	0.269																																																	0													55	55	55					5																	72337134		1796	4030	5826	SO:0001583	missense	0			AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.931G>T	5.37:g.72337134G>T	ENSP00000393776:p.Asp311Tyr		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.D311Y	ENST00000430046.2	37	c.931	CCDS47230.1	5	.	.	.	.	.	.	.	.	.	.	G	16.53	3.150274	0.57151	.	.	ENSG00000157107	ENST00000430046;ENST00000341845;ENST00000512348	T;T;T	0.15487	2.42;2.42;2.42	4.97	4.97	0.65823	.	0.439902	0.23137	N	0.051517	T	0.30916	0.0780	L	0.58810	1.83	0.45852	D	0.998719	P;P	0.50943	0.939;0.94	P;P	0.52554	0.702;0.564	T	0.03103	-1.1072	10	0.66056	D	0.02	-9.0004	16.0212	0.80493	0.0:0.0:1.0:0.0	.	278;311	E9PG79;Q0JRZ9	.;FCHO2_HUMAN	Y	311;311;278	ENSP00000393776:D311Y;ENSP00000344034:D311Y;ENSP00000427296:D278Y	ENSP00000344034:D311Y	D	+	1	0	FCHO2	72372890	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	4.546000	0.60705	2.289000	0.77006	0.585000	0.79938	GAT	FCHO2	-	NULL	ENSG00000157107		0.269	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCHO2	HGNC	protein_coding	OTTHUMT00000368795.3	-	0	78	0	G	XM_291142		72337134	1	tier1	-	no_errors	ENST00000341845	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	72337134	G	T	72337134	3	4	47	1	0	0	0	0	1	0	0	0	5810	942	33	3	973	3	FCHO2	5	72337134	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	846175	72337134	108578126	75	11400											
POC5	134359	genome.wustl.edu	37	chr5	74988260	74988260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgattcgccagtggaaGaatgttctcatcaactctat	10	12	9	10	2	3	1	2	0	2	1	5	3	3	2	2	2	1	1	2	2	4	3	rs146386463		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:74988260G>T	ENST00000428202.2	-	7	945	c.756C>A	c.(754-756)ttC>ttA	p.F252L	POC5_ENST00000446329.2_Missense_Mutation_p.F227L|POC5_ENST00000510798.1_Missense_Mutation_p.F135L|POC5_ENST00000504862.1_5'Flank|POC5_ENST00000380475.2_Missense_Mutation_p.F135L|POC5_ENST00000514838.2_Missense_Mutation_p.F224L	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	252					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCAGTGGAAGAATGTTCTCA	0.418																																																	0													205	192	196					5																	74988260		1907	4143	6050	SO:0001583	missense	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.756C>A	5.37:g.74988260G>T	ENSP00000410216:p.Phe252Leu		B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	NULL	p.F252L	ENST00000428202.2	37	c.756	CCDS47236.1	5	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540475	0.85917	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835	T;T;T;T;T	0.53640	1.63;1.23;0.61;0.61;1.6	5.71	5.71	0.89125	.	0.089887	0.85682	D	0.000000	T	0.63873	0.2548	M	0.71206	2.165	0.53688	D	0.999971	D;P;P	0.71674	0.998;0.845;0.938	D;P;P	0.76071	0.987;0.645;0.689	T	0.67138	-0.5746	10	0.87932	D	0	-17.3146	7.8713	0.29567	0.1948:0.0:0.8052:0.0	.	135;252;227	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	L	252;224;135;135;227;135	ENSP00000410216:F252L;ENSP00000420971:F224L;ENSP00000369842:F135L;ENSP00000426796:F135L;ENSP00000399481:F227L	ENSP00000369842:F135L	F	-	3	2	POC5	75024016	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.799000	0.62517	2.681000	0.91329	0.655000	0.94253	TTC	POC5	-	NULL	ENSG00000152359		0.418	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1		0	30	0	G	NM_152408		74988260	-1			no_errors	ENST00000428202	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	74988260	G	T	74988260	3	4	47	1	0	0	0	0	1	0	0	0	12216	933	33	3	995	3	POC5	5	74988260	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2651126	74988260	105927000	76	11401											
PHAX	51808	genome.wustl.edu	37	chr5	125939613	125939613	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacagaagcagacaatccGagacctacaattatttgctt	14	11	7	9	1	0	4	0	1	0	3	1	5	1	4	2	0	3	2	2	0	5	5	rs370070252		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:125939613G>T	ENST00000297540.4	+	2	1143	c.448G>T	c.(448-450)Gag>Tag	p.E150*	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	150	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						CAGACAATCCGAGACCTACAA	0.438																																																	0													94	87	90					5																	125939613		2203	4300	6503	SO:0001587	stop_gained	0			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.448G>T	5.37:g.125939613G>T	ENSP00000297540:p.Glu150*		Q9H8W1	Nonsense_Mutation	SNP	pfam_PHAX_RNA-binding_domain	p.E150*	ENST00000297540.4	37	c.448	CCDS4138.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.823678	0.99272	.	.	ENSG00000164902	ENST00000297540	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-35.6189	19.9279	0.97110	0.0:0.0:1.0:0.0	.	.	.	.	X	150	.	ENSP00000297540:E150X	E	+	1	0	PHAX	125967512	1.000000	0.71417	0.949000	0.38748	0.650000	0.38633	9.748000	0.98867	2.715000	0.92844	0.655000	0.94253	GAG	PHAX	-	NULL	ENSG00000164902		0.438	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHAX	HGNC	protein_coding	OTTHUMT00000250924.1	-	0	40	0	G	NM_032177		125939613	1	tier1	-	no_errors	ENST00000297540	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T	T	125939613	G	T	125939613	4	4	47	1	0	0	0	0	0	1	0	0	11852	1059	37	2	454	2	PHAX	5	125939613	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	50951353	125939613	54975647	77	11402											
FAM13B	51306	genome.wustl.edu	37	chr5	137289028	137289028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgctacaaacctaccttGctatttctttccctttcaaa	11	15	3	12	0	2	0	1	0	1	0	3	1	3	0	3	0	5	2	3	0	6	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:137289028G>T	ENST00000033079.3	-	15	2230	c.1779C>A	c.(1777-1779)agC>agA	p.S593R	FAM13B_ENST00000420893.2_Missense_Mutation_p.S593R|FAM13B_ENST00000425075.2_Missense_Mutation_p.S497R	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	593					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AACCTACCTTGCTATTTCTTT	0.368																																																	0													206	198	201					5																	137289028		2203	4300	6503	SO:0001583	missense	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1779C>A	5.37:g.137289028G>T	ENSP00000033079:p.Ser593Arg		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S593R	ENST00000033079.3	37	c.1779	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202511	0.38905	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95447	-3.71;1.94;-3.71	5.33	3.29	0.37713	.	0.212916	0.49916	D	0.000122	D	0.92678	0.7673	L	0.51422	1.61	0.31393	N	0.677592	P;B;B	0.43519	0.809;0.32;0.215	B;B;B	0.41332	0.354;0.192;0.061	D	0.91706	0.5377	10	0.48119	T	0.1	-0.0799	11.1655	0.48541	0.2482:0.0:0.7518:0.0	.	497;593;593	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	R	593;497;593	ENSP00000033079:S593R;ENSP00000394669:S497R;ENSP00000388521:S593R	ENSP00000033079:S593R	S	-	3	2	FAM13B	137316927	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	0.680000	0.25306	1.235000	0.43724	-0.224000	0.12420	AGC	FAM13B	-	NULL	ENSG00000031003		0.368	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	-	0	52	0	G			137289028	-1	tier1	-	no_errors	ENST00000033079	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	137289028	G	T	137289028	3	4	47	1	0	0	0	0	1	0	0	0	5472	1310	46	3	1004	3	FAM13B	5	137289028	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	11349415	137289028	43626232	78	11403											
PCDHA6	56142	genome.wustl.edu	37	chr5	140209088	140209088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaggagaacaacccgccggGctgccacatcttcacggtgt	10	6	12	13	3	2	1	1	0	1	1	2	3	2	1	3	3	3	1	3	3	3	1	rs542651929		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:140209088G>A	ENST00000529310.1	+	1	1526	c.1412G>A	c.(1411-1413)gGc>gAc	p.G471D	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.G471D	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	471	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCGCCGGGCTGCCACATC	0.657													.|||	1	0.000199681	0	0	5008	,	,		18697	0		0.001	False		,,,				2504	0																0													38	46	44					5																	140209088		2203	4291	6494	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1412G>A	5.37:g.140209088G>A	ENSP00000433378:p.Gly471Asp		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G471D	ENST00000529310.1	37	c.1412	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498472	0.44455	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.68624	-0.34;-0.34	3.72	3.72	0.42706	Cadherin (3);Cadherin-like (1);	0.000000	0.36703	U	0.002452	T	0.81123	0.4757	M	0.78916	2.43	0.39950	D	0.974522	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.99	D	0.85294	0.1069	10	0.87932	D	0	.	14.7456	0.69488	0.0:0.0:1.0:0.0	.	471;471;471	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	D	471	ENSP00000433378:G471D;ENSP00000434113:G471D	ENSP00000434113:G471D	G	+	2	0	PCDHA6	140189272	1.000000	0.71417	0.900000	0.35374	0.297000	0.27493	4.303000	0.59098	2.061000	0.61500	0.313000	0.20887	GGC	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000081842		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	-	0	124	0	G	NM_018909		140209088	1	tier1	-	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	10.18	150	17	SNP	0.969	A	A	140209088	G	A	140209088	3	1	47	1	0	0	0	0	1	0	0	0	11567	1203	42	3	1414	3	PCDHA6	5	140209088	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2920060	140209088	40706172	79	11404											
PCDHB11	56125	genome.wustl.edu	37	chr5	140580114	140580114	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagattcgggagaatagcaTccttggctcgctgattttga	10	12	12	7	2	0	4	0	2	0	2	3	6	1	4	1	2	1	3	1	2	3	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:140580114T>C	ENST00000354757.3	+	1	767	c.767T>C	c.(766-768)aTc>aCc	p.I256T	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAATAGCATCCTTGGCTCG	0.448																																																	0													192	196	194					5																	140580114		2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.767T>C	5.37:g.140580114T>C	ENSP00000346802:p.Ile256Thr		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I256T	ENST00000354757.3	37	c.767	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	T	7.866	0.727041	0.15439	.	.	ENSG00000197479	ENST00000354757	T	0.49139	0.79	2.7	-4.63	0.03359	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20820	0.0501	N	0.03029	-0.43	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.23013	-1.0200	9	0.72032	D	0.01	.	9.0261	0.36230	0.0:0.6978:0.1491:0.1531	.	256	Q9Y5F2	PCDBB_HUMAN	T	256	ENSP00000346802:I256T	ENSP00000346802:I256T	I	+	2	0	PCDHB11	140560298	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.290000	0.02777	-1.010000	0.03396	-0.644000	0.03951	ATC	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000197479		0.448	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0	59	0	T	NM_018931		140580114	1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.000	C	C	140580114	T	C	140580114	3	2	47	1	0	0	0	0	1	0	0	0	11575	1435	50	4	769	4	PCDHB11	5	140580114	Missense_Mutation	SNP	T	TCGA-KH-A6WC-01A-11D-A33E-09	371026	140580114	40335146	80	11405											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741884	140741884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcttgggactgttttCagcctggtctcagctccaag	7	12	11	11	0	2	1	2	0	1	1	4	2	3	2	2	2	3	3	2	2	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:140741884C>A	ENST00000522605.1	+	1	2182	c.2182C>A	c.(2182-2184)Cag>Aag	p.Q728K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	728					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q728*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTGTTTTCAGCCTGGTCT	0.552																																																	1	Substitution - Nonsense(1)	cervix(1)											106	111	110					5																	140741884		1989	4166	6155	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.2182C>A	5.37:g.140741884C>A	ENSP00000429018:p.Gln728Lys		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q728K	ENST00000522605.1	37	c.2182	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.749502	0.00669	.	.	ENSG00000253910	ENST00000522605	T	0.14516	2.5	5.18	-0.183	0.13284	.	.	.	.	.	T	0.09158	0.0226	L	0.51853	1.615	0.09310	N	1	B;B	0.14012	0.002;0.009	B;B	0.12837	0.008;0.008	T	0.44544	-0.9321	9	0.05721	T	0.95	.	4.3499	0.11150	0.3824:0.3478:0.1999:0.0699	.	728;728	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	K	728	ENSP00000429018:Q728K	ENSP00000429018:Q728K	Q	+	1	0	PCDHGB2	140722068	0.015000	0.18098	0.801000	0.32222	0.070000	0.16714	0.053000	0.14184	0.261000	0.21753	0.461000	0.40582	CAG	PCDHGB2	-	NULL	ENSG00000253910		0.552	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1		0	56	0	C	NM_018923		140741884	1			no_errors	ENST00000522605	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	A	A	140741884	C	A	140741884	3	1	47	1	0	0	0	0	1	0	0	0	11602	827	29	3	2184	3	PCDHGB2	5	140741884	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	161770	140741884	40173376	81	11406											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140799687	140799687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgccctatgcctataattTttgtgtgcctggggatcaaa	8	15	10	8	0	1	0	1	0	0	0	1	1	1	1	3	2	3	1	3	2	4	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:140799687T>C	ENST00000398594.2	+	1	2261	c.2261T>C	c.(2260-2262)tTt>tCt	p.F754S	PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTATAATTTTTGTGTGCCT	0.458																																																	0													58	57	57					5																	140799687		1863	4113	5976	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2261T>C	5.37:g.140799687T>C	ENSP00000381594:p.Phe754Ser		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F754S	ENST00000398594.2	37	c.2261	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	t	12.10	1.836503	0.32421	.	.	ENSG00000254122	ENST00000398594	T	0.44482	0.92	5.49	5.49	0.81192	.	0.476007	0.11798	U	0.528467	T	0.36635	0.0974	N	0.19112	0.55	0.09310	N	1	B;B	0.19200	0.034;0.033	B;B	0.30316	0.053;0.114	T	0.41698	-0.9494	10	0.87932	D	0	.	15.2975	0.73922	0.0:0.0:0.0:1.0	.	754;754	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	S	754	ENSP00000381594:F754S	ENSP00000381594:F754S	F	+	2	0	PCDHGB7	140779871	0.356000	0.24930	0.783000	0.31826	0.749000	0.42624	3.297000	0.51810	2.090000	0.63153	0.459000	0.35465	TTT	PCDHGB7	-	NULL	ENSG00000254122		0.458	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1	-	0	50	0	T	NM_018927		140799687	1	tier1	-	no_errors	ENST00000398594	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.177	C	C	140799687	T	C	140799687	3	2	47	1	0	0	0	0	1	0	0	0	11607	1841	64	4	2263	4	PCDHGB7	5	140799687	Missense_Mutation	SNP	T	TCGA-KH-A6WC-01A-11D-A33E-09	57803	140799687	40115573	82	11407											
ZNF300	91975	genome.wustl.edu	37	chr5	150275819	150275819	+	Frame_Shift_Del	DEL	A	A	-																															gaaggcttttccacattcagAacaatcataaggtttctccc																										TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:150275819delA	ENST00000274599.5	-	6	1402	c.982delT	c.(982-984)tctfs	p.S328fs	ZNF300_ENST00000446148.2_Frame_Shift_Del_p.S344fs|ZNF300_ENST00000394226.2_Frame_Shift_Del_p.S328fs|ZNF300_ENST00000418587.2_Frame_Shift_Del_p.S292fs|ZNF300_ENST00000427179.1_3'UTR	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACATTCAGAACAATCATAA	0.418																																																	0													79	84	82					5																	150275819		2202	4298	6500	SO:0001589	frameshift_variant	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.982delT	5.37:g.150275819delA	ENSP00000274599:p.Ser328fs		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S344fs	ENST00000274599.5	37	c.1030	CCDS4311.2	5																																																																																			ZNF300	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000145908		0.418	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding			0	53	0	A	NM_052860		150275819	-1	tier1		no_errors	ENST00000446148	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.993	-	-	150275819	A	-	150275819	7	5	47	1	0	1	0	1	0	0	0	0	17879	246	9	0	836	0	ZNF300	5	150275819	Frame_Shift_Del	DEL	A	TCGA-KH-A6WC-01A-11D-A33E-09	9476132	150275819	30639441	83	11408											
THG1L	54974	genome.wustl.edu	37	chr5	157158604	157158604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgcctggcacactgctgGgtggtagtgcggctggacgg	5	8	17	11	2	0	0	0	0	0	0	0	1	0	1	2	6	3	4	2	6	1	1	rs372055284		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:157158604G>T	ENST00000231198.7	+	1	400	c.156G>T	c.(154-156)tgG>tgT	p.W52C		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	52					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACACTGCTGGGTGGTAGTGC	0.622																																																	0													167	158	161					5																	157158604		2203	4300	6503	SO:0001583	missense	0			AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"interphase cytoplasmic foci protein 45"					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.156G>T	5.37:g.157158604G>T	ENSP00000231198:p.Trp52Cys		D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Missense_Mutation	SNP	pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1	p.W52C	ENST00000231198.7	37	c.156	CCDS4341.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249250	0.80024	.	.	ENSG00000113272	ENST00000231198	T	0.50001	0.76	5.77	5.77	0.91146	.	0.106348	0.64402	D	0.000001	T	0.77785	0.4182	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80605	-0.1308	10	0.52906	T	0.07	-14.431	20.3473	0.98799	0.0:0.0:1.0:0.0	.	52	Q9NWX6	THG1_HUMAN	C	52	ENSP00000231198:W52C	ENSP00000231198:W52C	W	+	3	0	THG1L	157091182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.562000	0.60816	2.884000	0.98904	0.655000	0.94253	TGG	THG1L	-	pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1	ENSG00000113272		0.622	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THG1L	HGNC	protein_coding	OTTHUMT00000252579.2		0	48	0	G	NM_017872		157158604	1			no_errors	ENST00000231198	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	157158604	G	T	157158604	3	4	47	1	0	0	0	0	1	0	0	0	15908	1241	43	3	158	3	THG1L	5	157158604	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	6882785	157158604	23756656	84	11409											
WWC1	23286	genome.wustl.edu	37	chr5	167882521	167882521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagagccagtacgtgtGccgggtaagtgagcgtgcgg	8	6	16	11	4	0	2	0	1	0	1	0	2	0	2	4	2	5	2	4	2	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:167882521G>T	ENST00000265293.4	+	19	3321	c.2819G>T	c.(2818-2820)tGc>tTc	p.C940F	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.C940F	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	940	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CAGTACGTGTGCCGGGTAAGT	0.607																																																	0													87	85	86					5																	167882521		2203	4300	6503	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2819G>T	5.37:g.167882521G>T	ENSP00000265293:p.Cys940Phe		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.C940F	ENST00000265293.4	37	c.2819	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527296	0.85706	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.69806	-0.43;-0.43;-0.43	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.85130	0.997;0.757	D	0.86119	0.1567	10	0.87932	D	0	.	19.325	0.94258	0.0:0.0:1.0:0.0	.	940;940	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	F	940;940;266	ENSP00000265293:C940F;ENSP00000427772:C940F;ENSP00000428084:C266F	ENSP00000265293:C940F	C	+	2	0	WWC1	167815099	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	9.772000	0.98984	2.559000	0.86315	0.655000	0.94253	TGC	WWC1	-	NULL	ENSG00000113645		0.607	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	-	0	23	0	G	NM_015238		167882521	1	tier1	-	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	167882521	G	T	167882521	3	4	47	1	0	0	0	0	1	0	0	0	17460	1319	46	3	2893	3	WWC1	5	167882521	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	10723917	167882521	13032739	85	11410											
SLIT3	6586	genome.wustl.edu	37	chr5	168112909	168112909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagtaggaccatgggtGgggggtgttcacagaagggt	8	9	18	6	0	2	1	1	0	1	1	2	2	2	2	1	6	1	3	1	6	2	2	rs146512576	byFrequency	TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:168112909G>T	ENST00000519560.1	-	31	3757	c.3338C>A	c.(3337-3339)cCa>cAa	p.P1113Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.P1120Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.P1113Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1113					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCATGGGTGGGGGGTGTTC	0.602																																					Ovarian(29;311 847 10864 17279 24903)												0													27	25	26					5																	168112909		2203	4300	6503	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3338C>A	5.37:g.168112909G>T	ENSP00000430333:p.Pro1113Gln		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P1113Q	ENST00000519560.1	37	c.3338	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700961	0.68501	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.34275	1.37;1.37;1.37	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	L	0.58969	1.84	0.80722	D	1	D	0.56968	0.978	P	0.59825	0.864	T	0.53507	-0.8429	10	0.87932	D	0	.	12.581	0.56390	0.0807:0.0:0.9193:0.0	.	1113	O75094	SLIT3_HUMAN	Q	1113;1120;1113	ENSP00000430333:P1113Q;ENSP00000332164:P1120Q;ENSP00000384890:P1113Q	ENSP00000332164:P1120Q	P	-	2	0	SLIT3	168045487	1.000000	0.71417	0.957000	0.39632	0.670000	0.39368	7.971000	0.88012	2.349000	0.79799	0.561000	0.74099	CCA	SLIT3	-	NULL	ENSG00000184347		0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	38	0	G	NM_003062		168112909	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.999	T	T	168112909	G	T	168112909	3	4	47	1	0	0	0	0	1	0	0	0	14786	1348	47	3	1257	3	SLIT3	5	168112909	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	230388	168112909	12802351	86	11411											
NSD1	64324	genome.wustl.edu	37	chr5	176721258	176721258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcctttagataaggtcAgagacctcgctgggtcaggg	9	8	13	11	1	2	2	2	0	0	2	3	3	2	2	3	3	1	1	3	3	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr5:176721258A>G	ENST00000439151.2	+	23	6934	c.6889A>G	c.(6889-6891)Aga>Gga	p.R2297G	NSD1_ENST00000361032.4_Missense_Mutation_p.R2194G|NSD1_ENST00000354179.4_Missense_Mutation_p.R2028G|NSD1_ENST00000347982.4_Missense_Mutation_p.R2028G	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2297	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATAAGGTCAGAGACCTCGC	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													64	68	67					5																	176721258		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6889A>G	5.37:g.176721258A>G	ENSP00000395929:p.Arg2297Gly		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R2297G	ENST00000439151.2	37	c.6889	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	A	13.38	2.221176	0.39201	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93859	-3.2;-3.2;-3.2;-3.3	4.55	2.01	0.26516	.	0.097154	0.43579	D	0.000553	D	0.89501	0.6733	N	0.19112	0.55	0.33079	D	0.53634	P;P	0.50528	0.936;0.651	P;B	0.50934	0.654;0.15	D	0.89543	0.3794	10	0.39692	T	0.17	.	11.5853	0.50914	0.5378:0.4622:0.0:0.0	.	2028;2297	Q96L73-2;Q96L73	.;NSD1_HUMAN	G	2028;2297;2028;2194	ENSP00000346111:R2028G;ENSP00000395929:R2297G;ENSP00000343209:R2028G;ENSP00000354310:R2194G	ENSP00000343209:R2028G	R	+	1	2	NSD1	176653864	0.978000	0.34361	1.000000	0.80357	0.876000	0.50452	1.366000	0.34193	0.442000	0.26555	0.533000	0.62120	AGA	NSD1	-	NULL	ENSG00000165671		0.562	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	47	0	A	NM_172349		176721258	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.999	G	G	176721258	A	G	176721258	3	3	47	1	0	0	0	0	1	0	0	0	10708	180	7	4	6975	4	NSD1	5	176721258	Missense_Mutation	SNP	A	TCGA-KH-A6WC-01A-11D-A33E-09	8608349	176721258	4194002	87	11412											
F13A1	2162	genome.wustl.edu	37	chr6	6174842	6174842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcgtcacgtcgaacGtctccttcttgaattctgcc	6	12	8	15	4	4	1	1	1	3	0	7	2	5	1	3	0	3	1	3	0	2	3	rs113599940		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:6174842G>A	ENST00000264870.3	-	12	1983	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	573					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACGTCGAACGTCTCCTTCTT	0.527																																																	0													283	247	259					6																	6174842		2203	4300	6503	SO:0001583	missense	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"Transglutaminases"	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1718C>T	6.37:g.6174842G>A	ENSP00000264870:p.Thr573Met		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T573M	ENST00000264870.3	37	c.1718	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934696	0.34189	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.69306	-0.39	5.78	5.78	0.91487	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.563919	0.18787	N	0.131169	T	0.67915	0.2944	M	0.66939	2.045	0.23542	N	0.997459	D;D	0.76494	0.992;0.999	P;P	0.56278	0.795;0.628	T	0.64449	-0.6405	10	0.52906	T	0.07	.	13.9156	0.63895	0.0:0.0:0.8481:0.1519	.	510;573	F5H080;P00488	.;F13A_HUMAN	M	573;510	ENSP00000264870:T573M	ENSP00000264870:T573M	T	-	2	0	F13A1	6119841	0.877000	0.30153	0.418000	0.26571	0.084000	0.17831	2.734000	0.47368	2.726000	0.93360	0.643000	0.83706	ACG	F13A1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000124491		0.527	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	-	0	89	0	G	NM_000129		6174842	-1	tier1	rs113599940	no_errors	ENST00000264870	ensembl	human	known	74_37	missense	14.04	98	16	SNP	0.422	A	A	6174842	G	A	6174842	3	1	47	1	0	0	0	0	1	0	0	0	5356	1145	40	1	496	1	F13A1	6	6174842	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		6174842	164940225	88	11413											
RREB1	6239	genome.wustl.edu	37	chr6	7246768	7246768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagctccgccaggtcgcagGggatgcgcctgtggagcagg	6	6	18	11	3	0	1	0	1	0	0	2	3	1	3	3	5	3	3	3	5	0	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:7246768G>T	ENST00000349384.6	+	11	4234	c.3920G>T	c.(3919-3921)gGg>gTg	p.G1307V	RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Missense_Mutation_p.G1307V|RREB1_ENST00000379938.2_Missense_Mutation_p.G1362V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1307					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGGTCGCAGGGGATGCGCCT	0.711																																																	0													21	22	22					6																	7246768		2121	4141	6262	SO:0001583	missense	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3920G>T	6.37:g.7246768G>T	ENSP00000305560:p.Gly1307Val		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1362V	ENST00000349384.6	37	c.4085	CCDS34336.1	6	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837139	0.32513	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384	T;T;T	0.10192	2.99;2.9;2.99	5.18	-4.19	0.03835	.	1.255130	0.05637	N	0.582707	T	0.01765	0.0056	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.23650	0.089;0.034	B;B	0.24155	0.051;0.023	T	0.45323	-0.9269	10	0.87932	D	0	0.1991	1.1566	0.01797	0.3943:0.2646:0.2118:0.1293	.	1307;1362	Q92766;Q92766-2	RREB1_HUMAN;.	V	1307;1362;1307	ENSP00000369265:G1307V;ENSP00000369270:G1362V;ENSP00000305560:G1307V	ENSP00000305560:G1307V	G	+	2	0	RREB1	7191767	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.209000	0.17435	-1.095000	0.03050	-0.136000	0.14681	GGG	RREB1	-	NULL	ENSG00000124782		0.711	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	-	0	27	0	G			7246768	1	tier1	-	no_errors	ENST00000379938	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	T	T	7246768	G	T	7246768	3	4	47	1	0	0	0	0	1	0	0	0	13724	1232	43	3	4119	3	RREB1	6	7246768	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1071926	7246768	163868299	89	11414											
TNXB	7148	genome.wustl.edu	37	chr6	32049952	32049952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacaggtaccacctggggCcgtccatccctgtccctgta	6	9	9	17	1	0	0	0	0	0	0	4	0	4	0	7	3	1	2	7	3	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:32049952C>A	ENST00000375244.3	-	9	3798	c.3597G>T	c.(3595-3597)cgG>cgT	p.R1199R	TNXB_ENST00000375247.2_Silent_p.R1199R			P22105	TENX_HUMAN	tenascin XB	1286	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCACCTGGGGCCGTCCATCCC	0.562																																																	0													43	39	40					6																	32049952		1269	2542	3811	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3597G>T	6.37:g.32049952C>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1199	ENST00000375244.3	37	c.3597		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.562	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0	80	0	C	NM_019105		32049952	-1			no_errors	ENST00000375247	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.701	A	A	32049952	C	A	32049952	2	1	47	1	0	0	0	0	0	0	0	1	16393	726	26	3		3	TNXB	6	32049952	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	24803184	32049952	139065115	90	11415											
NOTCH4	4855	genome.wustl.edu	37	chr6	32181562	32181562	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctagggttgcaggagccGccattgagacatggccctga	8	7	16	10	1	0	2	0	2	0	1	0	4	0	3	3	4	2	3	3	4	1	3	rs201608659		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:32181562G>T	ENST00000375023.3	-	14	2361	c.2223C>A	c.(2221-2223)ggC>ggA	p.G741G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	741	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCAGGAGCCGCCATTGAGAC	0.592																																																	0													81	65	70					6																	32181562		1509	2709	4218	SO:0001819	synonymous_variant	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2223C>A	6.37:g.32181562G>T			B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G741	ENST00000375023.3	37	c.2223	CCDS34420.1	6																																																																																			NOTCH4	-	pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000204301		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2		0	35	0	G			32181562	-1			no_errors	ENST00000375023	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.988	T	T	32181562	G	T	32181562	2	4	47	1	0	0	0	0	0	0	0	1	10590	1074	38	2		2	NOTCH4	6	32181562	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	131610	32181562	138933505	91	11416											
ITPR3	3710	genome.wustl.edu	37	chr6	33662731	33662731	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggactggttcccccggatgCgggccatgtcccttgtcagc	4	10	13	14	2	1	0	1	0	0	0	3	2	3	2	4	4	2	1	4	4	0	2	rs376639833		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:33662731C>A	ENST00000374316.5	+	58	8876	c.7816C>A	c.(7816-7818)Cgg>Agg	p.R2606R	ITPR3_ENST00000605930.1_Silent_p.R2606R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2606					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCCCCGGATGCGGGCCATGTC	0.547																																																	0													66	60	62					6																	33662731		2203	4300	6503	SO:0001819	synonymous_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7816C>A	6.37:g.33662731C>A			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2606	ENST00000374316.5	37	c.7816	CCDS4783.1	6																																																																																			ITPR3	-	NULL	ENSG00000096433		0.547	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0	28	0	C	NM_002224		33662731	1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	silent	9.52	38	4	SNP	1.000	A	A	33662731	C	A	33662731	2	1	47	1	0	0	0	0	0	0	0	1	7949	759	27	2		2	ITPR3	6	33662731	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	1481169	33662731	137452336	92	11417											
TEAD3	7005	genome.wustl.edu	37	chr6	35454368	35454368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgttgtccagccccttGtccaggccctcgggcccatc	4	9	10	18	2	0	0	0	0	0	0	5	0	2	0	6	2	1	2	6	2	0	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:35454368G>T	ENST00000402886.3	-	2	173	c.20C>A	c.(19-21)aCa>aAa	p.T7K	TEAD3_ENST00000338863.7_Missense_Mutation_p.D24E			Q99594	TEAD3_HUMAN	TEA domain family member 3	0					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCAGCCCCTTGTCCAGGCCCT	0.697																																																	0													33	42	39					6																	35454368		2170	4278	6448	SO:0001583	missense	0			X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.20C>A	6.37:g.35454368G>T	ENSP00000384577:p.Thr7Lys		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	pfam_TEA/ATTS,pirsf_TEF	p.T7K	ENST00000402886.3	37	c.20		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.697|6.697	0.497325|0.497325	0.12762|0.12762	.|.	.|.	ENSG00000007866|ENSG00000007866	ENST00000338863;ENST00000373905|ENST00000402886	T|T	0.28666|0.55930	1.6|0.49	4.93|4.93	3.12|3.12	0.35913|0.35913	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.21347|0.21347	0.0514|0.0514	L|L	0.39633|0.39633	1.23|1.23	0.26322|0.26322	N|N	0.977668|0.977668	B|B	0.13594|0.09022	0.008|0.002	B|B	0.17722|0.06405	0.019|0.002	T|T	0.24368|0.24368	-1.0162|-1.0162	10|9	0.27082|0.59425	T|D	0.32|0.04	-22.1334|-22.1334	5.9568|5.9568	0.19277|0.19277	0.1645:0.0:0.6844:0.1512|0.1645:0.0:0.6844:0.1512	.|.	40|7	Q7Z6V0|B5MCM0	.|.	E|K	24;40|7	ENSP00000345772:D24E|ENSP00000384577:T7K	ENSP00000345772:D24E|ENSP00000384577:T7K	D|T	-|-	3|2	2|0	TEAD3|TEAD3	35562346|35562346	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.003000|0.003000	0.03518|0.03518	5.652000|5.652000	0.67959|0.67959	0.600000|0.600000	0.29862|0.29862	-0.400000|-0.400000	0.06385|0.06385	GAC|ACA	TEAD3	-	pirsf_TEF	ENSG00000007866		0.697	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	TEAD3	HGNC	protein_coding	OTTHUMT00000316961.2		0	46	0	G			35454368	-1			no_errors	ENST00000402886	ensembl	human	novel	74_37	missense	5.56	68	4	SNP	1.000	T	T	35454368	G	T	35454368	3	4	47	1	0	0	0	0	1	0	0	0	15787	1368	48	3	1283	3	TEAD3	6	35454368	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1791637	35454368	135660699	93	11418											
GUCA1B	2979	genome.wustl.edu	37	chr6	42162358	42162358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtgccttaccccattCttgtcgaaggctcggaacat	8	11	10	12	2	2	0	1	0	1	0	4	2	2	1	3	3	3	1	3	3	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:42162358C>A	ENST00000230361.3	-	1	296	c.201G>T	c.(199-201)aaG>aaT	p.K67N		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	67	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				body fluid secretion (GO:0007589)|cell-cell signaling (GO:0007267)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)	p.K67N(1)		large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTACCCCATTCTTGTCGAAGG	0.572																																																	1	Substitution - Missense(1)	lung(1)											104	86	92					6																	42162358		2203	4300	6503	SO:0001583	missense	0			AF173227	CCDS4865.1	6p21.1	2013-02-14			ENSG00000112599	ENSG00000112599		"EF-hand domain containing"	4679	protein-coding gene	gene with protein product		602275				9119368	Standard	NM_002098		Approved	GCAP2, RP48	uc003orz.3	Q9UMX6	OTTHUMG00000014697	ENST00000230361.3:c.201G>T	6.37:g.42162358C>A	ENSP00000230361:p.Lys67Asn		Q9NU15	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.K67N	ENST00000230361.3	37	c.201	CCDS4865.1	6	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957373	0.53400	.	.	ENSG00000112599	ENST00000230361;ENST00000372949	T	0.41758	0.99	4.6	2.78	0.32641	EF-hand-like domain (1);	0.045975	0.85682	D	0.000000	T	0.33731	0.0873	M	0.72479	2.2	0.58432	D	0.999999	P	0.50369	0.934	P	0.49387	0.609	T	0.18935	-1.0321	10	0.51188	T	0.08	.	7.3112	0.26475	0.0:0.7129:0.0:0.2871	.	67	Q9UMX6	GUC1B_HUMAN	N	67	ENSP00000230361:K67N	ENSP00000230361:K67N	K	-	3	2	GUCA1B	42270336	0.989000	0.36119	1.000000	0.80357	0.948000	0.59901	0.322000	0.19576	1.068000	0.40764	-0.264000	0.10439	AAG	GUCA1B	-	smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000112599		0.572	GUCA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1B	HGNC	protein_coding	OTTHUMT00000040550.1		0	33	0	C	NM_002098		42162358	-1			no_errors	ENST00000230361	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	42162358	C	A	42162358	3	1	47	1	0	0	0	0	1	0	0	0	6916	912	32	3	417	3	GUCA1B	6	42162358	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	6707990	42162358	128952709	94	11419											
PHF3	23469	genome.wustl.edu	37	chr6	64404642	64404642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacttgcacaggagaaaaaGcttcaaaaccaggtagtgag	16	8	10	7	0	1	2	1	1	0	1	1	3	1	2	1	2	4	3	1	2	6	4	rs35547668		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:64404642G>T	ENST00000262043.3	+	6	3008	c.2668G>T	c.(2668-2670)Gct>Tct	p.A890S	PHF3_ENST00000393387.1_Missense_Mutation_p.A890S			Q92576	PHF3_HUMAN	PHD finger protein 3	890					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGGAGAAAAAGCTTCAAAACC	0.308																																					GBM(135;136 1820 29512 34071 46235)												0													46	49	48					6																	64404642		2193	4297	6490	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2668G>T	6.37:g.64404642G>T	ENSP00000262043:p.Ala890Ser		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.A890S	ENST00000262043.3	37	c.2668	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	9.237	1.037375	0.19669	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000393387	T;T;T;T;T	0.44482	2.22;1.79;0.92;2.25;2.25	5.07	-5.14	0.02875	.	1.589140	0.04263	N	0.340770	T	0.05044	0.0135	N	0.16478	0.41	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.08680	-1.0710	10	0.06757	T	0.87	0.1052	1.1116	0.01705	0.3296:0.1021:0.1553:0.413	.	890	Q92576	PHF3_HUMAN	S	704;802;159;890;890	ENSP00000424694:A704S;ENSP00000425227:A802S;ENSP00000425338:A159S;ENSP00000262043:A890S;ENSP00000377048:A890S	ENSP00000262043:A890S	A	+	1	0	PHF3	64462601	0.201000	0.23410	0.786000	0.31890	0.772000	0.43724	-0.558000	0.05978	-0.621000	0.05633	-0.334000	0.08254	GCT	PHF3	-	NULL	ENSG00000118482		0.308	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	-	0	112	0	G			64404642	1	tier1	-	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.488	T	T	64404642	G	T	64404642	3	4	47	1	0	0	0	0	1	0	0	0	11875	971	34	3	2686	3	PHF3	6	64404642	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	22242284	64404642	106710425	95	11420											
MDN1	23195	genome.wustl.edu	37	chr6	90422466	90422466	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccaggtttcatgtgctcGcaaagaagaaacatgtttct	11	12	8	10	1	2	2	1	0	1	2	4	2	3	2	2	1	2	4	2	1	3	2	rs187636155	byFrequency	TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:90422466G>T	ENST00000369393.3	-	48	7373	c.7258C>A	c.(7258-7260)Cga>Aga	p.R2420R	MDN1_ENST00000428876.1_Silent_p.R2420R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2420					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.R2420*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATGTGCTCGCAAAGAAGAA	0.453													G|||	3	0.000599042	8e-04	0	5008	,	,		18669	0.002		0	False		,,,				2504	0																1	Substitution - Nonsense(1)	large_intestine(1)						G		2,4404	4.2+/-10.8	0,2,2201	67	64	65		7258	-1.6	0	6		65	0,8600		0,0,4300	no	coding-synonymous	MDN1	NM_014611.1		0,2,6501	TT,TG,GG		0.0,0.0454,0.0154		2420/5597	90422466	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7258C>A	6.37:g.90422466G>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R2420	ENST00000369393.3	37	c.7258	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	27	0	G			90422466	-1			no_errors	ENST00000369393	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.065	T	T	90422466	G	T	90422466	2	4	47	1	0	0	0	0	0	0	0	1	9453	1095	38	2		2	MDN1	6	90422466	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	26017824	90422466	80692601	96	11421											
COL10A1	1300	genome.wustl.edu	37	chr6	116441237	116441237	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattagctctgtgtgtactCacattggagccactaggaat	11	12	10	8	0	2	1	1	0	1	1	2	3	2	3	1	2	3	2	1	2	4	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:116441237C>A	ENST00000327673.4	-	2	2449	c.2042G>T	c.(2041-2043)tGa>tTa	p.*681L	COL10A1_ENST00000243222.4_Nonstop_Mutation_p.*681L|AL121963.1_ENST00000430695.1_5'Flank|NT5DC1_ENST00000319550.4_Intron			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	0					cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGTGTGTACTCACATTGGAGC	0.458																																																	0													90	99	96					6																	116441237		2203	4300	6503	SO:0001578	stop_lost	0				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.2042G>T	6.37:g.116441237C>A			A1L4P2	Nonstop_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.*681L	ENST00000327673.4	37	c.2042	CCDS5105.1	6	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726800	0.30593	.	.	ENSG00000123500	ENST00000243222;ENST00000327673	.	.	.	5.08	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6699	0.23062	0.0:0.7855:0.0:0.2145	.	.	.	.	L	681	.	.	X	-	2	2	COL10A1	116547930	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	1.703000	0.37846	2.539000	0.85634	0.455000	0.32223	TGA	COL10A1	-	NULL	ENSG00000123500		0.458	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	HGNC	protein_coding	OTTHUMT00000041926.1		0	47	0	C			116441237	-1			no_errors	ENST00000243222	ensembl	human	known	74_37	nonstop	9.26	49	5	SNP	1.000	A	A	116441237	C	A	116441237	4	1	47	1	0	0	0	0	0	0	0	0	3673	837	29	3	4	3	COL10A1	6	116441237	Nonstop_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	26018771	116441237	54673830	97	11422											
PPIL4	85313	genome.wustl.edu	37	chr6	149847910	149847910	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatcaggtaggtctccCacctaaattacaaacaaaca	15	9	5	12	0	3	0	1	0	2	0	4	0	3	0	2	2	4	2	2	2	6	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:149847910C>A	ENST00000253329.2	-	8	713	c.681G>T	c.(679-681)gtG>gtT	p.V227V		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	227					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GTAGGTCTCCCACCTAAATTA	0.338																																																	0													76	71	72					6																	149847910		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.681G>T	6.37:g.149847910C>A			B2RD34|Q7Z3Q5	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V227	ENST00000253329.2	37	c.681	CCDS34550.1	6																																																																																			PPIL4	-	NULL	ENSG00000131013		0.338	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1		0	38	0	C			149847910	-1			no_errors	ENST00000253329	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.997	A	A	149847910	C	A	149847910	2	1	47	1	0	0	0	0	0	0	0	1	12371	581	21	3		3	PPIL4	6	149847910	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	33406673	149847910	21267157	98	11423											
KIF25	3834	genome.wustl.edu	37	chr6	168439399	168439399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggacagaggttgcgctgCtggcctctgagtgagtactg	7	9	16	9	2	1	3	0	2	1	1	1	5	1	4	1	3	3	4	1	3	1	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr6:168439399C>T	ENST00000443060.2	+	6	875	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	KIF25_ENST00000351261.3_Silent_p.L162L|KIF25_ENST00000354419.2_Silent_p.L162L			Q9UIL4	KIF25_HUMAN	kinesin family member 25	162	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGTTGCGCTGCTGGCCTCTGA	0.592																																																	0													96	86	89					6																	168439399		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"Kinesins"	6390	protein-coding gene	gene with protein product		603815	"kinesin-like 3"	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.484C>T	6.37:g.168439399C>T			O94775|Q5SZU9	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L162	ENST00000443060.2	37	c.484	CCDS5305.1	6																																																																																			KIF25	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000125337		0.592	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIF25	HGNC	protein_coding	OTTHUMT00000362509.1		0	49	0	C			168439399	1			no_errors	ENST00000354419	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.503	T	T	168439399	C	T	168439399	2	4	47	1	0	0	0	0	0	0	0	1	8320	796	28	3		3	KIF25	6	168439399	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	18591489	168439399	2675668	99	11424											
MMD2	221938	genome.wustl.edu	37	chr7	4965122	4965122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcatgttcatactctgtgGgctggtacctcttgtgggca	5	13	12	11	1	3	0	1	0	2	0	3	0	3	0	2	3	2	5	2	3	2	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr7:4965122G>A	ENST00000404774.3	-	2	283	c.89C>T	c.(88-90)cCc>cTc	p.P30L	MMD2_ENST00000406755.1_Missense_Mutation_p.P30L|MMD2_ENST00000401401.3_Missense_Mutation_p.P30L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	30						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.P30H(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		ATACTCTGTGGGCTGGTACCT	0.597																																																	2	Substitution - Missense(2)	endometrium(2)											167	166	166					7																	4965122		1956	4136	6092	SO:0001583	missense	0			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.89C>T	7.37:g.4965122G>A	ENSP00000384690:p.Pro30Leu		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.P30L	ENST00000404774.3	37	c.89	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	g	23.5	4.425263	0.83667	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	.	.	.	3.82	3.82	0.43975	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.87448	0.2399	9	0.56958	D	0.05	-30.6215	14.8881	0.70584	0.0:0.0:1.0:0.0	.	30;30;30	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	L	30	.	ENSP00000384141:P30L	P	-	2	0	MMD2	4931648	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.976000	0.76135	1.965000	0.57142	0.561000	0.74099	CCC	MMD2	-	NULL	ENSG00000136297		0.597	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1		0	23	0	G	NM_198403		4965122	-1			no_errors	ENST00000404774	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	4965122	G	A	4965122	3	1	47	1	0	0	0	0	1	0	0	0	9682	1232	43	3	747	3	MMD2	7	4965122	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		4965122	154173541	100	11425											
ZNF273	10793	genome.wustl.edu	37	chr7	64388284	64388284	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcataaattctcaaattCaaatatacataagaaaagac	20	11	2	8	0	3	2	3	0	1	2	4	2	3	2	1	0	1	0	1	0	9	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr7:64388284C>A	ENST00000476120.1	+	4	649	c.578C>A	c.(577-579)tCa>tAa	p.S193*	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Nonsense_Mutation_p.S128*	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TTCTCAAATTCAAATATACAT	0.294																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													43	48	46					7																	64388284		2199	4287	6486	SO:0001587	stop_gained	0			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.578C>A	7.37:g.64388284C>A	ENSP00000418719:p.Ser193*		B3KQZ5|Q6P3V4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S193*	ENST00000476120.1	37	c.578	CCDS5528.2	7	.	.	.	.	.	.	.	.	.	.	.	10.15	1.272133	0.23221	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	.	.	.	1.16	-0.0966	0.13636	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	4.1423	0.10200	0.0:0.4886:0.0:0.5113	.	.	.	.	X	193;128	.	ENSP00000324518:S128X	S	+	2	0	ZNF273	64025719	0.001000	0.12720	0.030000	0.17652	0.030000	0.12068	-0.104000	0.10923	0.202000	0.20498	0.205000	0.17691	TCA	ZNF273	-	NULL	ENSG00000198039		0.294	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1		0	85	0	C			64388284	1			no_errors	ENST00000476120	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.000	A	A	64388284	C	A	64388284	4	1	47	1	0	0	0	0	0	1	0	0	17856	838	29	3	592	3	ZNF273	7	64388284	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	59423162	64388284	94750379	101	11426											
ZNF273	10793	genome.wustl.edu	37	chr7	64388525	64388525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaaagcctttaaccaGtccttaactcttactaaaca	13	12	5	11	0	1	0	0	0	1	0	2	0	2	0	3	1	5	1	3	1	6	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr7:64388525G>T	ENST00000476120.1	+	4	890	c.819G>T	c.(817-819)caG>caT	p.Q273H	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.Q208H	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CCTTTAACCAGTCCTTAACTC	0.328																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													40	45	43					7																	64388525		2199	4299	6498	SO:0001583	missense	0			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"Zinc fingers, C2H2-type", "-"	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.819G>T	7.37:g.64388525G>T	ENSP00000418719:p.Gln273His		B3KQZ5|Q6P3V4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q273H	ENST00000476120.1	37	c.819	CCDS5528.2	7	.	.	.	.	.	.	.	.	.	.	.	0.020	-1.444940	0.01089	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.05513	3.43;3.43	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	L	0.37850	1.14	0.09310	N	1	B	0.10296	0.003	B	0.21151	0.033	T	0.43491	-0.9388	9	0.24483	T	0.36	.	7.3527	0.26700	0.0:0.0:1.0:0.0	.	273	Q14593	ZN273_HUMAN	H	273;208	ENSP00000418719:Q273H;ENSP00000324518:Q208H	ENSP00000324518:Q208H	Q	+	3	2	ZNF273	64025960	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.617000	0.00413	0.202000	0.20498	0.205000	0.17691	CAG	ZNF273	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198039		0.328	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF273	HGNC	protein_coding	OTTHUMT00000313502.1	-	0	39	0	G			64388525	1	tier1	-	no_errors	ENST00000476120	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T	T	64388525	G	T	64388525	3	4	47	1	0	0	0	0	1	0	0	0	17856	1020	36	3	833	3	ZNF273	7	64388525	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	241	64388525	94750138	102	11427											
KRIT1	889	genome.wustl.edu	37	chr7	91865794	91865794	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggattcactacagactcGcataatatcttgtaagcagt	13	12	7	9	1	2	1	1	0	1	1	3	2	2	2	0	1	2	3	0	1	4	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr7:91865794G>A	ENST00000340022.2	-	7	1436	c.418C>T	c.(418-420)Cga>Tga	p.R140*	KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394507.1_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R140*|KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R140*	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	140	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.R140*(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTACAGACTCGCATAATATCT	0.318																																																	1	Substitution - Nonsense(1)	large_intestine(1)											99	104	102					7																	91865794		2203	4299	6502	SO:0001587	stop_gained	0			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"Ankyrin repeat domain containing"	1573	protein-coding gene	gene with protein product		604214	"cerebral cavernous malformations 1"	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.418C>T	7.37:g.91865794G>A	ENSP00000344668:p.Arg140*		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Nonsense_Mutation	SNP	pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain	p.R140*	ENST00000340022.2	37	c.418	CCDS5624.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.271354	0.98179	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177;ENST00000433016;ENST00000454017	.	.	.	5.17	0.483	0.16820	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7004	15.7344	0.77831	0.0:0.0:0.2068:0.7932	.	.	.	.	X	140	.	ENSP00000344668:R140X	R	-	1	2	KRIT1	91703730	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	1.282000	0.33226	0.065000	0.16485	-0.238000	0.12139	CGA	KRIT1	-	NULL	ENSG00000001631		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRIT1	HGNC	protein_coding	OTTHUMT00000253910.1		0	86	0	G			91865794	-1			no_errors	ENST00000340022	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A	A	91865794	G	A	91865794	4	1	47	1	0	0	0	0	0	1	0	0	8472	1095	38	1	1844	1	KRIT1	7	91865794	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	27477269	91865794	67272869	103	11428											
ZKSCAN1	7586	genome.wustl.edu	37	chr7	99631789	99631789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccagcctcccttgatgCatttggcgcgttcctgaaaa	8	10	9	14	2	0	2	0	2	0	0	2	2	2	2	4	1	3	2	4	1	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr7:99631789C>T	ENST00000324306.6	+	6	1895	c.1661C>T	c.(1660-1662)gCa>gTa	p.A554V	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.A518V|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.A341V	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCCCTTGATGCATTTGGCGCG	0.493																																																	0													98	92	94					7																	99631789		2203	4300	6503	SO:0001583	missense	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1661C>T	7.37:g.99631789C>T	ENSP00000323148:p.Ala554Val		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A554V	ENST00000324306.6	37	c.1661	CCDS34698.1	7	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742536	0.49151	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.06933	3.34;3.3;3.24	5.53	5.53	0.82687	.	0.225081	0.31612	N	0.007356	T	0.04907	0.0132	N	0.08118	0	0.31774	N	0.631691	B	0.20368	0.044	B	0.21708	0.036	T	0.11591	-1.0581	10	0.36615	T	0.2	.	10.2233	0.43209	0.0:0.9129:0.0:0.0871	.	554	P17029	ZKSC1_HUMAN	V	554;518;341	ENSP00000323148:A554V;ENSP00000409172:A518V;ENSP00000443508:A341V	ENSP00000323148:A554V	A	+	2	0	ZKSCAN1	99469725	0.965000	0.33210	0.973000	0.42090	0.967000	0.64934	2.275000	0.43399	2.882000	0.98803	0.655000	0.94253	GCA	ZKSCAN1	-	NULL	ENSG00000106261		0.493	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	-	0	35	0	C	NM_003439		99631789	1	tier1	-	no_errors	ENST00000324306	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.916	T	T	99631789	C	T	99631789	3	4	47	1	0	0	0	0	1	0	0	0	17734	710	25	3	1679	3	ZKSCAN1	7	99631789	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	7765995	99631789	59506874	104	11429											
TAS2R40	259286	genome.wustl.edu	37	chr7	142919701	142919701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagctccattcctatcccctCctccaactccacggagaaga	10	9	5	17	1	0	2	0	0	0	2	6	3	6	2	7	1	2	1	7	1	4	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr7:142919701C>A	ENST00000408947.3	+	1	572	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	177					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCTATCCCCTCCTCCAACTCC	0.448																																																	0													161	150	154					7																	142919701		1924	4132	6056	SO:0001583	missense	0			AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18885	protein-coding gene	gene with protein product		613964	"G protein-coupled receptor 60"	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.530C>A	7.37:g.142919701C>A	ENSP00000386210:p.Ser177Tyr		A4D2I2|Q645W6	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S177Y	ENST00000408947.3	37	c.530	CCDS43662.1	7	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348497	0.11126	.	.	ENSG00000221937	ENST00000408947	T	0.00816	5.66	5.29	4.39	0.52855	.	0.681105	0.13127	U	0.411750	T	0.02418	0.0074	L	0.58101	1.795	0.09310	N	1	P	0.46327	0.876	P	0.51016	0.656	T	0.48906	-0.8993	10	0.36615	T	0.2	.	9.8705	0.41170	0.0:0.824:0.0:0.176	.	177	P59535	T2R40_HUMAN	Y	177	ENSP00000386210:S177Y	ENSP00000386210:S177Y	S	+	2	0	TAS2R40	142629823	0.000000	0.05858	0.254000	0.24359	0.658000	0.38924	-0.143000	0.10296	1.198000	0.43158	0.655000	0.94253	TCC	TAS2R40	-	pfam_TAS2_rcpt	ENSG00000221937		0.448	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R40	HGNC	protein_coding	OTTHUMT00000327097.1	-	0	40	0	C			142919701	1	tier1	-	no_errors	ENST00000408947	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.003	A	A	142919701	C	A	142919701	3	1	47	1	0	0	0	0	1	0	0	0	15625	855	30	3	532	3	TAS2R40	7	142919701	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	43287912	142919701	16218962	105	11430											
TMEM176B	28959	genome.wustl.edu	37	chr7	150490641	150490641	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagactcacagcaagtttGcccgggtgcttctcatggac	9	9	10	13	1	2	1	2	0	1	1	3	2	2	2	2	2	3	3	2	2	2	2	rs556270613	byFrequency	TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr7:150490641G>T	ENST00000447204.2	-	4	735	c.363C>A	c.(361-363)ggC>ggA	p.G121G	TMEM176B_ENST00000434545.1_Silent_p.G121G|TMEM176B_ENST00000450753.2_Silent_p.G84G|TMEM176B_ENST00000326442.5_Silent_p.G121G|TMEM176B_ENST00000492607.1_Silent_p.G121G|TMEM176B_ENST00000429904.2_Silent_p.G121G	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	121					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGCAAGTTTGCCCGGGTGCT	0.502													G|||	2	0.000399361	0	0	5008	,	,		19217	0.002		0	False		,,,				2504	0																0													111	104	106					7																	150490641		2203	4300	6503	SO:0001819	synonymous_variant	0			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.363C>A	7.37:g.150490641G>T			B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.G121	ENST00000447204.2	37	c.363	CCDS5908.1	7																																																																																			TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000106565		0.502	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1		0	59	0	G	NM_014020		150490641	-1			no_errors	ENST00000326442	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.002	T	T	150490641	G	T	150490641	2	4	47	1	0	0	0	0	0	0	0	1	16140	1306	46	3		3	TMEM176B	7	150490641	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	7570940	150490641	8648022	106	11431											
DOCK5	80005	genome.wustl.edu	37	chr8	25237874	25237874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctgagacttacgaaagCaaagtatttgactacgaggg	13	10	12	6	2	0	2	0	2	0	1	0	5	0	2	0	2	3	3	0	2	5	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr8:25237874C>A	ENST00000276440.7	+	39	4034	c.3990C>A	c.(3988-3990)agC>agA	p.S1330R		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1330	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTTACGAAAGCAAAGTATTTG	0.443																																					Pancreas(145;34 1887 3271 10937 30165)												0													86	77	80					8																	25237874		2203	4300	6503	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3990C>A	8.37:g.25237874C>A	ENSP00000276440:p.Ser1330Arg		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.S1330R	ENST00000276440.7	37	c.3990	CCDS6047.1	8	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853835	0.32791	.	.	ENSG00000147459	ENST00000276440	T	0.01838	4.61	5.82	3.03	0.35002	.	0.128929	0.64402	D	0.000001	T	0.03959	0.0111	L	0.28400	0.85	0.39359	D	0.96589	P;B;B	0.50443	0.935;0.053;0.053	P;B;B	0.55391	0.775;0.067;0.067	T	0.57957	-0.7721	10	0.34782	T	0.22	.	8.7882	0.34835	0.0:0.7398:0.1253:0.1349	.	119;1320;1330	Q6ZP32;D3DSS6;Q9H7D0	.;.;DOCK5_HUMAN	R	1330	ENSP00000276440:S1330R	ENSP00000276440:S1330R	S	+	3	2	DOCK5	25293791	1.000000	0.71417	0.992000	0.48379	0.948000	0.59901	1.246000	0.32803	0.365000	0.24400	0.561000	0.74099	AGC	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2		0	55	0	C	NM_024940		25237874	1			no_errors	ENST00000276440	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	25237874	C	A	25237874	3	1	47	1	0	0	0	0	1	0	0	0	4704	709	25	3	4144	3	DOCK5	8	25237874	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09		25237874	121126148	107	11432											
TRIM35	23087	genome.wustl.edu	37	chr8	27145627	27145627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagccagctgcggtgttggGgtcaaagctgaagggtactg	8	8	16	9	1	1	1	1	1	0	0	1	1	1	1	2	4	5	4	2	4	3	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr8:27145627G>T	ENST00000305364.4	-	6	1005	c.922C>A	c.(922-924)Ccc>Acc	p.P308T	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	308	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCGGTGTTGGGGTCAAAGCTG	0.592																																																	0													35	39	38					8																	27145627		2203	4300	6503	SO:0001583	missense	0			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.922C>A	8.37:g.27145627G>T	ENSP00000301924:p.Pro308Thr		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P308T	ENST00000305364.4	37	c.922	CCDS6056.2	8	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992477	0.54041	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.19806	2.12	5.58	5.58	0.84498	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000003	T	0.53158	0.1779	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59484	-0.7446	10	0.59425	D	0.04	.	15.0751	0.72071	0.0:0.0:1.0:0.0	.	308	Q9UPQ4	TRI35_HUMAN	T	308	ENSP00000301924:P308T	ENSP00000301924:P308T	P	-	1	0	TRIM35	27201544	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	7.032000	0.76498	2.630000	0.89119	0.491000	0.48974	CCC	TRIM35	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000104228		0.592	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2		0	25	0	G	NM_171982		27145627	-1			no_errors	ENST00000305364	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	27145627	G	T	27145627	3	4	47	1	0	0	0	0	1	0	0	0	16557	1232	43	3	563	3	TRIM35	8	27145627	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1907753	27145627	119218395	108	11433											
MMP16	4325	genome.wustl.edu	37	chr8	89068411	89068411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccaaatggctgaatCaataccatgagggggaattc	13	8	9	11	0	1	2	1	2	0	0	3	3	2	3	3	3	1	1	3	3	5	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr8:89068411C>A	ENST00000286614.6	-	8	1599	c.1318G>T	c.(1318-1320)Gat>Tat	p.D440Y		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	440					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATGGCTGAATCAATACCATGA	0.418																																																	0													114	108	110					8																	89068411		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1318G>T	8.37:g.89068411C>A	ENSP00000286614:p.Asp440Tyr		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D440Y	ENST00000286614.6	37	c.1318	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.126191	0.94429	.	.	ENSG00000156103	ENST00000286614	T	0.08984	3.03	5.91	5.91	0.95273	Hemopexin/matrixin (2);	0.044326	0.85682	D	0.000000	T	0.51007	0.1649	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71520	-0.4568	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	440	P51512	MMP16_HUMAN	Y	440	ENSP00000286614:D440Y	ENSP00000286614:D440Y	D	-	1	0	MMP16	89137527	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.794000	0.85869	2.793000	0.96121	0.655000	0.94253	GAT	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000156103		0.418	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	104	0	C	NM_005941		89068411	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	89068411	C	A	89068411	3	1	47	1	0	0	0	0	1	0	0	0	9693	826	29	3	517	3	MMP16	8	89068411	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	61922784	89068411	57295611	109	11434											
OSR2	116039	genome.wustl.edu	37	chr8	99962900	99962900	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatacatccattccaaaGaaaaacccttcaaatgtcag	17	9	4	11	0	3	2	3	0	0	2	5	2	5	2	3	0	2	0	3	0	5	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr8:99962900G>T	ENST00000297565.4	+	3	1169	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	OSR2_ENST00000522510.1_Nonsense_Mutation_p.E225*|OSR2_ENST00000457907.2_Nonsense_Mutation_p.E346*|OSR2_ENST00000523368.1_Nonsense_Mutation_p.E225*|OSR2_ENST00000435298.2_Nonsense_Mutation_p.E225*	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	225					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCATTCCAAAGAAAAACCCTT	0.353																																																	0													67	64	65					8																	99962900		1847	4089	5936	SO:0001587	stop_gained	0			AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"Zinc fingers, C2H2-type"	15830	protein-coding gene	gene with protein product		611297	"odd-skipped related 2 (Drosophila)"				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.673G>T	8.37:g.99962900G>T	ENSP00000297565:p.Glu225*		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E346*	ENST00000297565.4	37	c.1036	CCDS47901.1	8	.	.	.	.	.	.	.	.	.	.	G	38	7.158967	0.98103	.	.	ENSG00000164920	ENST00000523368;ENST00000297565;ENST00000435298;ENST00000522510;ENST00000457907	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.886	19.1074	0.93301	0.0:0.0:1.0:0.0	.	.	.	.	X	225;225;225;225;346	.	.	E	+	1	0	OSR2	100032076	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.738000	0.93877	0.655000	0.94253	GAA	OSR2	-	pfscan_Znf_C2H2	ENSG00000164920		0.353	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSR2	HGNC	protein_coding	OTTHUMT00000379505.1	-	0	63	0	G	NM_053001		99962900	1	tier1	-	no_errors	ENST00000457907	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	1.000	T	T	99962900	G	T	99962900	4	4	47	1	0	0	0	0	0	1	0	0	11333	943	33	3	679	3	OSR2	8	99962900	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	10894489	99962900	46401122	110	11435											
CSMD3	114788	genome.wustl.edu	37	chr8	113318394	113318394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagtattcctccatttgttGgagctttaggaatcccacag	9	15	8	9	0	0	0	0	0	0	0	3	2	3	2	3	2	1	3	3	2	4	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr8:113318394G>T	ENST00000297405.5	-	51	8157	c.7913C>A	c.(7912-7914)cCa>cAa	p.P2638Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.P2534Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2568Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2598Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2638	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2638L(1)|p.P2598L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATTTGTTGGAGCTTTAGG	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	lung(2)											98	91	93					8																	113318394		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7913C>A	8.37:g.113318394G>T	ENSP00000297405:p.Pro2638Gln		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P2638Q	ENST00000297405.5	37	c.7913	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856509	0.91355	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.53	5.53	0.82687	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.85418	0.5692	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86149	0.1586	10	0.29301	T	0.29	.	19.4468	0.94851	0.0:0.0:1.0:0.0	.	2534;2638;2598	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2598;2638;1908;2534;2568	ENSP00000345799:P2598Q;ENSP00000297405:P2638Q;ENSP00000341558:P1908Q;ENSP00000412263:P2534Q;ENSP00000343124:P2568Q	ENSP00000297405:P2638Q	P	-	2	0	CSMD3	113387570	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.591000	0.87537	0.557000	0.71058	CCA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.348	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0	55	0	G	NM_052900		113318394	-1			no_errors	ENST00000297405	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	113318394	G	T	113318394	3	4	47	1	0	0	0	0	1	0	0	0	3955	1348	47	3	3294	3	CSMD3	8	113318394	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	13355494	113318394	33045628	111	11436											
COL14A1	7373	genome.wustl.edu	37	chr8	121243717	121243717	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttattccagttttccagacgGgaatcagaaacctagttgta	12	13	8	8	1	1	2	1	0	0	2	3	3	3	3	3	1	1	3	3	1	5	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr8:121243717G>T	ENST00000297848.3	+	19	2479	c.2209G>T	c.(2209-2211)Gga>Tga	p.G737*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.G642*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.G737*|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTTCCAGACGGGAATCAGAAA	0.418																																																	0													101	95	97					8																	121243717		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2209G>T	8.37:g.121243717G>T	ENSP00000297848:p.Gly737*			Nonsense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G737*	ENST00000297848.3	37	c.2209	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.277901	0.97435	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.	.	.	5.55	5.55	0.83447	.	0.114076	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.2636	0.90044	0.0:0.0:1.0:0.0	.	.	.	.	X	737;737;642;550	.	ENSP00000247781:G642X	G	+	1	0	COL14A1	121312898	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.344000	0.79328	2.624000	0.88883	0.561000	0.74099	GGA	COL14A1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2		0	57	0	G	NM_021110		121243717	1			no_errors	ENST00000297848	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	1.000	T	T	121243717	G	T	121243717	4	4	47	1	0	0	0	0	0	1	0	0	3678	1233	43	3	2279	3	COL14A1	8	121243717	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	7925323	121243717	25120305	112	11437											
ST3GAL1	6482	genome.wustl.edu	37	chr8	134488167	134488167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggggaaccaggtggtgGccaccatggtgtgggagtag	7	8	19	7	0	0	0	0	0	0	0	0	2	0	2	3	7	1	2	3	7	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr8:134488167G>T	ENST00000319914.5	-	4	1128	c.101C>A	c.(100-102)gCc>gAc	p.A34D	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.A34D|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.A34D|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.A34D|ST3GAL1_ENST00000519435.1_5'Flank			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	34					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCAGGTGGTGGCCACCATGGT	0.577																																																	0													100	88	92					8																	134488167		2203	4300	6503	SO:0001583	missense	0			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.101C>A	8.37:g.134488167G>T	ENSP00000318445:p.Ala34Asp		O60677|Q9UN51	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A34D	ENST00000319914.5	37	c.101	CCDS6373.1	8	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120544	0.37436	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523634;ENST00000519924;ENST00000523855	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.55	4.67	0.58626	.	1.274490	0.04919	N	0.454717	T	0.13286	0.0322	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.31641	-0.9936	10	0.18276	T	0.48	-22.6381	10.0292	0.42090	0.0733:0.0:0.788:0.1387	.	34	Q11201	SIA4A_HUMAN	D	34	ENSP00000318445:A34D;ENSP00000414073:A34D;ENSP00000428540:A34D;ENSP00000430515:A34D	ENSP00000318445:A34D	A	-	2	0	ST3GAL1	134557349	0.558000	0.26554	0.071000	0.20095	0.977000	0.68977	2.540000	0.45727	1.325000	0.45301	0.561000	0.74099	GCC	ST3GAL1	-	pirsf_Sialyl_trans	ENSG00000008513		0.577	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	-	0	48	0	G	NM_003033		134488167	-1	tier1	-	no_errors	ENST00000319914	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.088	T	T	134488167	G	T	134488167	3	4	47	1	0	0	0	0	1	0	0	0	15261	1203	42	3	945	3	ST3GAL1	8	134488167	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	13244450	134488167	11875855	113	11438											
VCP	7415	genome.wustl.edu	37	chr9	35062127	35062127	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcgccgctccacctcGccatgagtctgccagaacag	10	6	9	16	3	1	2	0	1	1	1	3	2	2	2	5	0	3	1	5	0	2	0	rs377316335		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:35062127G>T	ENST00000358901.6	-	9	1849	c.954C>A	c.(952-954)ggC>ggA	p.G318G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	318					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTCCACCTCGCCATGAGTCT	0.522																																																	0													185	157	166					9																	35062127		2203	4300	6503	SO:0001819	synonymous_variant	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.954C>A	9.37:g.35062127G>T			B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.G318	ENST00000358901.6	37	c.954	CCDS6573.1	9																																																																																			VCP	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.522	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0	30	0	G	NM_007126		35062127	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.622	T	T	35062127	G	T	35062127	2	4	47	1	0	0	0	0	0	0	0	1	17189	1074	38	2		2	VCP	9	35062127	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		35062127	106151304	114	11439											
ALDH1B1	219	genome.wustl.edu	37	chr9	38396346	38396346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacttgccccggcactcGccacaggcaacactgtggtt	9	7	11	14	2	0	0	0	0	0	0	1	1	0	1	3	4	3	3	3	4	2	2	rs199527495		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:38396346G>A	ENST00000377698.3	+	2	754	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	201					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.A201T(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CCCGGCACTCGCCACAGGCAA	0.597																																																	1	Substitution - Missense(1)	lung(1)						G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	77	76	77		601	4.6	0.2	9		77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ALDH1B1	NM_000692.4	58	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	201/518	38396346	4,13002	2203	4300	6503	SO:0001583	missense	0			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.601G>A	9.37:g.38396346G>A	ENSP00000366927:p.Ala201Thr		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A201T	ENST00000377698.3	37	c.601	CCDS6615.1	9	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017270	0.54576	6.81E-4	1.16E-4	ENSG00000137124	ENST00000377698	T	0.81078	-1.45	5.51	4.61	0.57282	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000010	D	0.91338	0.7268	H	0.95114	3.625	0.54753	D	0.999983	D	0.71674	0.998	P	0.62740	0.906	D	0.93032	0.6449	10	0.72032	D	0.01	.	12.306	0.54902	0.0827:0.0:0.9173:0.0	.	201	P30837	AL1B1_HUMAN	T	201	ENSP00000366927:A201T	ENSP00000366927:A201T	A	+	1	0	ALDH1B1	38386346	1.000000	0.71417	0.182000	0.23118	0.407000	0.30961	5.253000	0.65452	1.329000	0.45376	0.655000	0.94253	GCC	ALDH1B1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000137124		0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1		0	25	0	G			38396346	1			no_errors	ENST00000377698	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.998	A	A	38396346	G	A	38396346	3	1	47	1	0	0	0	0	1	0	0	0	493	1087	38	1	603	1	ALDH1B1	9	38396346	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	3334219	38396346	102817085	115	11440											
MAMDC2	256691	genome.wustl.edu	37	chr9	72840711	72840711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaataagaagtgatattGccattgatgatgttaaattt	15	16	7	3	0	1	4	1	3	0	1	1	4	1	4	1	0	1	1	1	0	7	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:72840711G>T	ENST00000377182.4	+	13	2574	c.1957G>T	c.(1957-1959)Gcc>Tcc	p.A653S	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	653	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)	p.A653T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AAGTGATATTGCCATTGATGA	0.338																																																	1	Substitution - Missense(1)	central_nervous_system(1)											81	82	82					9																	72840711		2202	4299	6501	SO:0001583	missense	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1957G>T	9.37:g.72840711G>T	ENSP00000366387:p.Ala653Ser		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.A653S	ENST00000377182.4	37	c.1957	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612595	0.66672	.	.	ENSG00000165072	ENST00000377182	T	0.03212	4.01	6.08	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.046059	0.85682	D	0.000000	T	0.22360	0.0539	M	0.87827	2.91	0.58432	D	0.99999	D	0.89917	1.0	D	0.75020	0.985	T	0.03576	-1.1023	10	0.56958	D	0.05	-17.1594	16.9481	0.86235	0.0:0.0:0.8711:0.1289	.	653	Q7Z304	MAMC2_HUMAN	S	653	ENSP00000366387:A653S	ENSP00000366387:A653S	A	+	1	0	MAMDC2	72030531	1.000000	0.71417	0.999000	0.59377	0.624000	0.37722	6.133000	0.71682	1.583000	0.49898	-0.152000	0.13540	GCC	MAMDC2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	ENSG00000165072		0.338	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1		0	72	0	G	NM_153267		72840711	1			no_errors	ENST00000377182	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	72840711	G	T	72840711	3	4	47	1	0	0	0	0	1	0	0	0	9241	1319	46	3	2007	3	MAMDC2	9	72840711	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	34444365	72840711	68372720	116	11441											
DAPK1	1612	genome.wustl.edu	37	chr9	90254606	90254606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctcttggtcttgaggcaGatatgtggtaaggagtatgt	10	13	13	5	0	2	2	0	1	2	1	2	3	2	3	1	4	1	3	1	4	4	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:90254606G>T	ENST00000408954.3	+	6	930	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	DAPK1_ENST00000469640.2_Missense_Mutation_p.D199Y|DAPK1_ENST00000358077.5_Missense_Mutation_p.D199Y|DAPK1_ENST00000491893.1_Missense_Mutation_p.D199Y|DAPK1_ENST00000472284.1_Missense_Mutation_p.D199Y	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	199	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTTGAGGCAGATATGTGGTA	0.373									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													390	345	359					9																	90254606		1926	4133	6059	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.595G>T	9.37:g.90254606G>T	ENSP00000386135:p.Asp199Tyr		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.D199Y	ENST00000408954.3	37	c.595	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571323	0.86542	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000054	D	0.95837	0.8645	H	0.99732	4.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97400	0.9995	10	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	199;199;199	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	Y	199	ENSP00000350785:D199Y;ENSP00000417076:D199Y;ENSP00000418885:D199Y;ENSP00000386135:D199Y;ENSP00000419026:D199Y	ENSP00000350785:D199Y	D	+	1	0	DAPK1	89444426	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GAT	DAPK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196730		0.373	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0	89	0	G	NM_004938		90254606	1			no_errors	ENST00000469640	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	90254606	G	T	90254606	3	4	47	1	0	0	0	0	1	0	0	0	4244	942	33	3	613	3	DAPK1	9	90254606	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	17413895	90254606	50958825	117	11442											
FBP2	8789	genome.wustl.edu	37	chr9	97321223	97321223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtggggtcaaactcgctaGctgcctgcctgatttttctg	6	14	11	10	1	2	1	1	1	1	0	3	1	2	1	2	2	4	2	2	2	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:97321223G>T	ENST00000375337.3	-	7	1083	c.1017C>A	c.(1015-1017)agC>agA	p.S339R	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	339					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				AAACTCGCTAGCTGCCTGCCT	0.493																																																	0													96	73	81					9																	97321223		2203	4300	6503	SO:0001583	missense	0			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.1017C>A	9.37:g.97321223G>T	ENSP00000364486:p.Ser339Arg		Q17R39|Q6FI53	Missense_Mutation	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.S339R	ENST00000375337.3	37	c.1017	CCDS6711.1	9	.	.	.	.	.	.	.	.	.	.	.	8.101	0.776680	0.16120	.	.	ENSG00000130957	ENST00000375337	T	0.72167	-0.63	5.27	1.02	0.19986	.	0.657037	0.15269	N	0.271372	T	0.44685	0.1305	N	0.08118	0	0.27140	N	0.961688	B	0.02656	0.0	B	0.01281	0.0	T	0.38090	-0.9677	10	0.87932	D	0	-10.5586	3.8757	0.09056	0.231:0.2272:0.455:0.0868	.	339	O00757	F16P2_HUMAN	R	339	ENSP00000364486:S339R	ENSP00000364486:S339R	S	-	3	2	FBP2	96361044	0.997000	0.39634	0.998000	0.56505	0.032000	0.12392	0.337000	0.19841	0.700000	0.31782	-0.211000	0.12701	AGC	FBP2	-	NULL	ENSG00000130957		0.493	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP2	HGNC	protein_coding	OTTHUMT00000053189.1	-	0	68	0	G	NM_003837		97321223	-1	tier1	-	no_errors	ENST00000375337	ensembl	human	known	74_37	missense	5.05	94	5	SNP	0.963	T	T	97321223	G	T	97321223	3	4	47	1	0	0	0	0	1	0	0	0	5728	962	34	3	6	3	FBP2	9	97321223	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	7066617	97321223	43892208	118	11443											
C9orf156	51531	genome.wustl.edu	37	chr9	100672785	100672785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattctgtaaattaaagtCtgctaaaggctccatcacat	13	14	6	8	0	3	0	1	0	2	0	4	0	4	0	1	1	1	4	1	1	7	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:100672785C>A	ENST00000375119.3	-	4	599	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	175					viral process (GO:0016032)		hydrolase activity (GO:0016787)	p.D175Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAATTAAAGTCTGCTAAAGGC	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)											146	139	141					9																	100672785		2203	4300	6503	SO:0001583	missense	0			AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"Nef (lentivirus myristoylated factor) associated protein 1"						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.523G>T	9.37:g.100672785C>A	ENSP00000364260:p.Asp175Tyr		Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066	p.D175Y	ENST00000375119.3	37	c.523	CCDS6730.1	9	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082000	0.55861	.	.	ENSG00000136932	ENST00000375119;ENST00000375118;ENST00000325350	T;T	0.42513	0.97;0.97	5.09	3.22	0.36961	Uncharacterised domain UPF0066, YaeB-like domain (2);	0.586022	0.16274	N	0.221630	T	0.41534	0.1163	N	0.14661	0.345	0.09310	N	1	D;D;P	0.71674	0.998;0.997;0.761	P;D;B	0.63192	0.888;0.912;0.202	T	0.20306	-1.0279	10	0.87932	D	0	-6.5324	8.8748	0.35339	0.0:0.8115:0.0:0.1885	.	72;29;175	Q6Y2L2;Q5T114;Q9BU70	.;.;NAP1_HUMAN	Y	175;29;72	ENSP00000364260:D175Y;ENSP00000364259:D29Y	ENSP00000324426:D72Y	D	-	1	0	C9orf156	99712606	0.038000	0.19896	0.001000	0.08648	0.208000	0.24298	1.132000	0.31418	0.633000	0.30452	0.563000	0.77884	GAC	C9orf156	-	superfamily_UPF0066_YaeB	ENSG00000136932		0.463	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf156	HGNC	protein_coding	OTTHUMT00000055401.1		0	24	0	C	NM_016481		100672785	-1			no_errors	ENST00000375119	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.022	A	A	100672785	C	A	100672785	3	1	47	1	0	0	0	0	1	0	0	0	2472	913	32	3	810	3	C9orf156	9	100672785	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	3351562	100672785	40540646	119	11444											
ZNF462	58499	genome.wustl.edu	37	chr9	109686536	109686536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatgcaagttctgtgtaCgctacttcaggtcaaaaaac	13	12	7	9	1	4	0	3	0	1	0	4	0	4	0	0	1	4	4	0	1	7	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:109686536C>T	ENST00000277225.5	+	3	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNF462_ENST00000457913.1_Missense_Mutation_p.R115C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	115					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R115S(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTCTGTGTACGCTACTTCAG	0.473																																																	1	Substitution - Missense(1)	lung(1)											87	82	84					9																	109686536		2203	4300	6503	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.343C>T	9.37:g.109686536C>T	ENSP00000277225:p.Arg115Cys		Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R115C	ENST00000277225.5	37	c.343	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241105	0.58995	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.10288	2.89;3.36	5.56	5.56	0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00254	-1.1874	9	.	.	.	.	19.525	0.95201	0.0:1.0:0.0:0.0	.	115	Q96JM2	ZN462_HUMAN	C	115	ENSP00000277225:R115C;ENSP00000414570:R115C	.	R	+	1	0	ZNF462	108726357	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.411000	0.80078	2.628000	0.89032	0.467000	0.42956	CGC	ZNF462	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000148143		0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2		0	39	0	C	NM_021224		109686536	1			no_errors	ENST00000457913	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	109686536	C	T	109686536	3	4	47	1	0	0	0	0	1	0	0	0	17974	536	19	1	349	1	ZNF462	9	109686536	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	9013751	109686536	31526895	120	11445											
GARNL3	84253	genome.wustl.edu	37	chr9	130117629	130117629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagagagctgaggattgtgGttgcaattcggaataaactg	12	10	14	5	1	0	2	0	1	0	1	1	5	0	4	0	3	3	4	0	3	4	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:130117629G>T	ENST00000373387.4	+	20	2165	c.1813G>T	c.(1813-1815)Gtt>Ttt	p.V605F	GARNL3_ENST00000435213.2_Missense_Mutation_p.V583F|GARNL3_ENST00000314904.5_Missense_Mutation_p.V605F	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	605	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GAGGATTGTGGTTGCAATTCG	0.493																																																	0													230	226	227					9																	130117629		2203	4300	6503	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1813G>T	9.37:g.130117629G>T	ENSP00000362485:p.Val605Phe		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom	p.V605F	ENST00000373387.4	37	c.1813	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.973256	0.92919	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.06608	3.28;3.28;3.28	5.48	5.48	0.80851	Citron-like (2);	0.062767	0.64402	D	0.000004	T	0.13415	0.0325	L	0.60455	1.87	0.51012	D	0.999907	P;P	0.48998	0.918;0.693	P;B	0.47673	0.554;0.34	T	0.01074	-1.1460	9	.	.	.	.	17.9175	0.88955	0.0:0.0:1.0:0.0	.	605;583	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	F	583;605;605	ENSP00000396205:V583F;ENSP00000313970:V605F;ENSP00000362485:V605F	.	V	+	1	0	GARNL3	129157450	1.000000	0.71417	0.550000	0.28217	0.935000	0.57460	9.174000	0.94824	2.563000	0.86464	0.563000	0.77884	GTT	GARNL3	-	pfam_Citron,smart_Citron	ENSG00000136895		0.493	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3		0	45	0	G	NM_032293		130117629	1			no_errors	ENST00000373387	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.988	T	T	130117629	G	T	130117629	3	4	47	1	0	0	0	0	1	0	0	0	6266	1261	44	3	1891	3	GARNL3	9	130117629	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	20431093	130117629	11095802	121	11446											
ODF2	4957	genome.wustl.edu	37	chr9	131260845	131260845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagtgccattgaagatgcGaggaggcaggtcagtcccga	11	6	16	8	2	1	3	1	1	0	2	2	7	2	4	2	3	2	1	2	3	1	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:131260845G>A	ENST00000434106.3	+	19	2529	c.2166G>A	c.(2164-2166)gcG>gcA	p.A722A	ODF2_ENST00000372807.5_Silent_p.A717A|ODF2_ENST00000444119.2_Silent_p.A698A|ODF2_ENST00000604420.1_Silent_p.A722A|ODF2_ENST00000393527.3_Silent_p.A698A|ODF2_ENST00000351030.3_Silent_p.A717A	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	722					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ttgaagatgcgaggaggcagg	0.527																																																	0													64	53	56					9																	131260845		2203	4300	6503	SO:0001819	synonymous_variant	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2166G>A	9.37:g.131260845G>A			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	NULL	p.A722	ENST00000434106.3	37	c.2166	CCDS56588.1	9																																																																																			ODF2	-	NULL	ENSG00000136811		0.527	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3		0	55	0	G			131260845	1			no_errors	ENST00000434106	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.989	A	A	131260845	G	A	131260845	2	1	47	1	0	0	0	0	0	0	0	1	10866	1045	37	1		1	ODF2	9	131260845	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1143216	131260845	9952586	122	11447											
NOTCH1	4851	genome.wustl.edu	37	chr9	139397632	139397632	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgggatggggccacacttActctgcacggcctcgatctt	6	9	11	15	3	2	0	0	0	2	0	3	2	2	1	3	4	2	1	3	4	1	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:139397632A>G	ENST00000277541.6	-	27	5243		c.e27+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACTTACTCTGCACGG	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													40	49	46					9																	139397632		2096	4211	6307	SO:0001630	splice_region_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5167+1T>C	9.37:g.139397632A>G			Q59ED8|Q5SXM3	Splice_Site	SNP	-	e27+2	ENST00000277541.6	37	c.5167+2	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908808	0.52439	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.81	0.63256	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138517453	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	8.690000	0.91272	1.923000	0.55706	0.459000	0.35465	.	NOTCH1	-	-	ENSG00000148400		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	80	0	A	NM_017617	Intron	139397632	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	splice_site	12.59	117	17	SNP	1.000	G	G	139397632	A	G	139397632	5	3	47	1	0	0	0	0	0	0	1	0	10586	405	14	4	2530	4	NOTCH1	9	139397632	Splice_Site	SNP	A	TCGA-KH-A6WC-01A-11D-A33E-09	8136787	139397632	1815799	123	11448											
ABCA2	20	genome.wustl.edu	37	chr9	139906593	139906593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcgctggtcttattcatgGggtggttggtgacggtgatg	4	14	18	5	2	2	2	1	2	1	0	2	2	2	2	0	7	0	2	0	7	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr9:139906593G>T	ENST00000371605.3	-	33	5465	c.5318C>A	c.(5317-5319)cCc>cAc	p.P1773H	ABCA2_ENST00000265662.5_Missense_Mutation_p.P1774H|ABCA2_ENST00000341511.6_Missense_Mutation_p.P1774H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1773					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTTATTCATGGGGTGGTTGGT	0.716																																																	0													88	91	90					9																	139906593		2014	4160	6174	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5318C>A	9.37:g.139906593G>T	ENSP00000360666:p.Pro1773His		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1774H	ENST00000371605.3	37	c.5321		9	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192657	0.58017	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88509	-2.39;-2.39;-2.39	4.31	4.31	0.51392	.	0.124423	0.56097	D	0.000037	D	0.95341	0.8488	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96428	0.9317	10	0.87932	D	0	.	16.5498	0.84470	0.0:0.0:1.0:0.0	.	1773;1804	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	H	1774;1773;1804;1774	ENSP00000265662:P1774H;ENSP00000360666:P1773H;ENSP00000344155:P1774H	ENSP00000265662:P1774H	P	-	2	0	ABCA2	139026414	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	8.717000	0.91425	2.229000	0.72834	0.305000	0.20034	CCC	ABCA2	-	NULL	ENSG00000107331		0.716	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	51	0	G	NM_001606		139906593	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	139906593	G	T	139906593	3	4	47	1	0	0	0	0	1	0	0	0	32	1232	43	3	2053	3	ABCA2	9	139906593	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	508961	139906593	1306838	124	11449											
TAF3	83860	genome.wustl.edu	37	chr10	8006695	8006695	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagagccagatcctttcGaattttcttctggatcggaa	10	12	10	9	3	2	2	0	0	2	2	5	6	3	4	2	2	2	0	2	2	2	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:8006695G>T	ENST00000344293.5	+	3	1428	c.1222G>T	c.(1222-1224)Gaa>Taa	p.E408*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	408					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGATCCTTTCGAATTTTCTTC	0.483																																																	0													96	92	93					10																	8006695		1879	4127	6006	SO:0001587	stop_gained	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1222G>T	10.37:g.8006695G>T	ENSP00000340271:p.Glu408*		Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E408*	ENST00000344293.5	37	c.1222	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.388868	0.97529	.	.	ENSG00000165632	ENST00000344293	.	.	.	5.56	4.65	0.58169	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-30.1827	14.3961	0.67013	0.0712:0.0:0.9288:0.0	.	.	.	.	X	408	.	ENSP00000340271:E408X	E	+	1	0	TAF3	8046701	1.000000	0.71417	0.151000	0.22473	0.657000	0.38888	9.230000	0.95299	1.356000	0.45884	0.650000	0.86243	GAA	TAF3	-	NULL	ENSG00000165632		0.483	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1		0	41	0	G	NM_031923		8006695	1			no_errors	ENST00000344293	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	0.992	T	T	8006695	G	T	8006695	4	4	47	1	0	0	0	0	0	1	0	0	15572	1059	37	2	1232	2	TAF3	10	8006695	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		8006695	127528052	125	11450											
GPR158	57512	genome.wustl.edu	37	chr10	25883266	25883266	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgattggatgttgatgctGtattttgcacatactcattt	8	19	8	6	0	2	2	1	2	1	0	2	3	2	3	0	1	3	4	0	1	2	7			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:25883266G>T	ENST00000376351.3	+	9	2297	c.1938G>T	c.(1936-1938)ctG>ctT	p.L646L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	646					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGATGCTGTATTTTGCAC	0.323																																																	0													207	189	195					10																	25883266		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1938G>T	10.37:g.25883266G>T			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.L646	ENST00000376351.3	37	c.1938	CCDS31166.1	10																																																																																			GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000151025		0.323	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2		0	26	0	G	XM_166110		25883266	1			no_errors	ENST00000376351	ensembl	human	known	74_37	silent	14.29	12	2	SNP	1.000	T	T	25883266	G	T	25883266	2	4	47	1	0	0	0	0	0	0	0	1	6689	1364	48	3		3	GPR158	10	25883266	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	17876571	25883266	109651481	126	11451											
ZNF438	220929	genome.wustl.edu	37	chr10	31137766	31137766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtattcatgtggtctCgaaggtgctgtttgaactgg	6	16	14	5	1	2	1	1	1	1	0	3	2	2	1	0	3	2	3	0	3	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:31137766C>A	ENST00000361310.3	-	6	1897	c.1568G>T	c.(1567-1569)cGa>cTa	p.R523L	ZNF438_ENST00000538351.2_Missense_Mutation_p.R474L|ZNF438_ENST00000375311.1_Missense_Mutation_p.R87L|ZNF438_ENST00000413025.1_Missense_Mutation_p.R523L|ZNF438_ENST00000452305.1_Missense_Mutation_p.R513L|ZNF438_ENST00000444692.2_Missense_Mutation_p.R513L|ZNF438_ENST00000436087.2_Missense_Mutation_p.R523L|ZNF438_ENST00000331737.6_Missense_Mutation_p.R513L|ZNF438_ENST00000442986.1_Missense_Mutation_p.R523L			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	523					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R523L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CATGTGGTCTCGAAGGTGCTG	0.498																																																	1	Substitution - Missense(1)	lung(1)											230	230	230					10																	31137766		2203	4300	6503	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1568G>T	10.37:g.31137766C>A	ENSP00000354663:p.Arg523Leu		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R523L	ENST00000361310.3	37	c.1568	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190945	0.38707	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.07800	3.16;3.16;3.16;3.16;3.16;3.16;3.16;3.16;3.16	5.5	-2.69	0.06022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.232649	0.44688	N	0.000430	T	0.04137	0.0115	N	0.17631	0.505	0.33092	D	0.538105	B;B	0.25904	0.137;0.112	B;B	0.28849	0.095;0.057	T	0.38564	-0.9655	10	0.21540	T	0.41	-5.5561	6.1038	0.20061	0.1483:0.2148:0.0:0.637	.	523;513	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	L	513;523;523;523;523;513;513;474;242;87	ENSP00000333571:R513L;ENSP00000354663:R523L;ENSP00000406934:R523L;ENSP00000412363:R523L;ENSP00000387546:R523L;ENSP00000413060:R513L;ENSP00000410898:R513L;ENSP00000445461:R474L;ENSP00000364460:R87L	ENSP00000333571:R513L	R	-	2	0	ZNF438	31177772	0.471000	0.25862	0.128000	0.21923	0.994000	0.84299	0.851000	0.27751	-0.301000	0.08882	-0.194000	0.12790	CGA	ZNF438	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183621		0.498	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1		0	51	0	C	NM_182755		31137766	-1			no_errors	ENST00000361310	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.816	A	A	31137766	C	A	31137766	3	1	47	1	0	0	0	0	1	0	0	0	17958	884	31	2	926	2	ZNF438	10	31137766	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	5254500	31137766	104396981	127	11452											
PGBD3	267004	genome.wustl.edu	37	chr10	50724704	50724704	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgagttcaatgacctCgtcatcaagaaaaagttcaa	17	9	7	8	1	4	3	4	2	0	1	5	4	4	3	1	0	0	2	1	0	6	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:50724704C>A	ENST00000374127.3	-	2	658	c.457G>T	c.(457-459)Gag>Tag	p.E153*	ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Nonsense_Mutation_p.E621*|PGBD3_ENST00000508005.2_Nonsense_Mutation_p.E153*|PGBD3_ENST00000603152.1_Nonsense_Mutation_p.E621*|ERCC6-PGBD3_ENST00000515869.1_Nonsense_Mutation_p.E621*	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	153										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCAATGACCTCGTCATCAAGA	0.403																																																	0													123	119	120					10																	50724704		2203	4300	6503	SO:0001587	stop_gained	0			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.457G>T	10.37:g.50724704C>A	ENSP00000363242:p.Glu153*		B3KQC4|Q5W0M0|Q6PIH0	Nonsense_Mutation	SNP	NULL	p.E621*	ENST00000374127.3	37	c.1861	CCDS7230.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.611244	0.96637	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	.	.	.	0.468	-0.558	0.11796	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-9.3338	.	.	.	.	.	.	.	X	153;153;621;621	.	ENSP00000387966:E621X	E	-	1	0	PGBD3;RP11-123B3.6	50394710	0.061000	0.20836	0.790000	0.31976	0.767000	0.43475	0.305000	0.19254	-0.344000	0.08338	-0.339000	0.08088	GAG	PGBD3	-	NULL	ENSG00000243251		0.403	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PGBD3	HGNC	protein_coding	OTTHUMT00000047988.1		0	50	0	C			50724704	-1			no_errors	ENST00000603152	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	0.096	A	A	50724704	C	A	50724704	4	1	47	1	0	0	0	0	0	1	0	0	11821	893	31	2	1328	2	PGBD3	10	50724704	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	19586938	50724704	84810043	128	11453											
JMJD1C	221037	genome.wustl.edu	37	chr10	64946091	64946091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaagactaattgattccGccttccataggctaatgttc	12	13	6	10	1	1	2	1	1	0	1	4	2	3	2	3	1	0	2	3	1	5	7	rs201993291		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:64946091G>T	ENST00000399262.2	-	19	6841	c.6623C>A	c.(6622-6624)gCg>gAg	p.A2208E	JMJD1C_ENST00000402544.1_Missense_Mutation_p.A1971E|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A2026E	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2208					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATTGATTCCGCCTTCCATAG	0.358																																																	0													103	95	98					10																	64946091		1844	4092	5936	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6623C>A	10.37:g.64946091G>T	ENSP00000382204:p.Ala2208Glu		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.A2208E	ENST00000399262.2	37	c.6623	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288315	0.80803	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.71103	-0.54;-0.54;-0.54	5.54	5.54	0.83059	.	0.114155	0.64402	D	0.000014	T	0.75729	0.3889	M	0.76727	2.345	0.80722	D	1	P;D;B	0.54772	0.854;0.968;0.164	P;P;B	0.49140	0.478;0.601;0.166	T	0.79327	-0.1849	10	0.87932	D	0	-9.6587	12.767	0.57396	0.076:0.0:0.924:0.0	.	2026;2208;2026	B7ZLC8;Q15652;A0T124	.;JHD2C_HUMAN;.	E	2208;1971;2026	ENSP00000382204:A2208E;ENSP00000384990:A1971E;ENSP00000444682:A2026E	ENSP00000382204:A2208E	A	-	2	0	JMJD1C	64616097	1.000000	0.71417	0.965000	0.40720	0.949000	0.60115	7.604000	0.82830	2.763000	0.94921	0.557000	0.71058	GCG	JMJD1C	-	NULL	ENSG00000171988		0.358	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2		0	31	0	G	NM_004241		64946091	-1			no_errors	ENST00000399262	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.998	T	T	64946091	G	T	64946091	3	4	47	1	0	0	0	0	1	0	0	0	7977	1087	38	2	1031	2	JMJD1C	10	64946091	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	14221387	64946091	70588656	129	11454											
KIAA0913	23053	genome.wustl.edu	37	chr10	75551792	75551792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggtgtcacctacagcGgcactgacaggaagctggca	9	8	12	12	1	1	1	1	1	0	0	2	2	2	2	2	4	3	3	2	4	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:75551792G>T	ENST00000605216.1	+	10	1712	c.1495G>T	c.(1495-1497)Ggc>Tgc	p.G499C	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.G499C|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.G499C|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.G499C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.G499C	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	499							zinc ion binding (GO:0008270)										CACCTACAGCGGCACTGACAG	0.697																																																	0													7	8	8					10																	75551792		1775	3799	5574	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"Zinc fingers, SWIM-type"	23528	protein-coding gene	gene with protein product			"KIAA0913"	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1495G>T	10.37:g.75551792G>T	ENSP00000474748:p.Gly499Cys		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.G499C	ENST00000605216.1	37	c.1495		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.598422|3.598422	0.66332|0.66332	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366	T|.	0.50001|.	0.76|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.360284|.	0.20455|.	U|.	0.092006|.	T|T	0.27594|0.27594	0.0678|0.0678	N|N	0.08118|0.08118	0|0	0.34035|0.34035	D|D	0.654252|0.654252	D;P;D|.	0.63880|.	0.993;0.737;0.993|.	P;P;P|.	0.55055|.	0.767;0.499;0.767|.	T|T	0.33828|0.33828	-0.9853|-0.9853	10|5	0.62326|.	D|.	0.03|.	-2.3232|-2.3232	6.7079|6.7079	0.23260|0.23260	0.1984:0.0:0.8016:0.0|0.1984:0.0:0.8016:0.0	.|.	499;499;499|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	C|L	499|221	ENSP00000381693:G499C|.	ENSP00000381693:G499C|.	G|R	+|+	1|2	0|0	KIAA0913|KIAA0913	75221798|75221798	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.969000|0.969000	0.65631|0.65631	6.194000|6.194000	0.72082|0.72082	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGC|CGG	ZSWIM8	-	NULL	ENSG00000214655		0.697	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1	-	0	49	0	G	NM_001242487		75551792	1	tier1	-	no_errors	ENST00000398706	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	75551792	G	T	75551792	3	4	47	1	0	0	0	0	1	0	0	0	8227	1116	39	2	1533	2	KIAA0913	10	75551792	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	10605701	75551792	59982955	130	11455											
GRID1	2894	genome.wustl.edu	37	chr10	87489302	87489302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttaagagtcaatccttGgaggcggctgcccatgggcc	8	9	12	12	1	1	1	1	0	0	1	2	2	2	2	3	4	1	1	3	4	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:87489302G>T	ENST00000327946.7	-	9	1388	c.1303C>A	c.(1303-1305)Caa>Aaa	p.Q435K	GRID1_ENST00000536331.1_Missense_Mutation_p.Q6K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	435					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GTCAATCCTTGGAGGCGGCTG	0.512										Multiple Myeloma(13;0.14)																																							0													90	87	88					10																	87489302		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1303C>A	10.37:g.87489302G>T	ENSP00000330148:p.Gln435Lys		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q435K	ENST00000327946.7	37	c.1303	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291430	0.59976	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.14144	2.78;2.53	5.45	5.45	0.79879	.	0.050023	0.85682	D	0.000000	T	0.11922	0.0290	L	0.29908	0.895	0.80722	D	1	B	0.29037	0.231	B	0.24541	0.054	T	0.13255	-1.0516	10	0.23891	T	0.37	.	18.2408	0.89967	0.0:0.0:1.0:0.0	.	435	Q9ULK0	GRID1_HUMAN	K	435;6	ENSP00000330148:Q435K;ENSP00000444455:Q6K	ENSP00000330148:Q435K	Q	-	1	0	GRID1	87479282	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.568000	0.82369	2.545000	0.85829	0.591000	0.81541	CAA	GRID1	-	NULL	ENSG00000182771		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0	39	0	G	XM_043613		87489302	-1	tier1	-	no_errors	ENST00000327946	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	87489302	G	T	87489302	3	4	47	1	0	0	0	0	1	0	0	0	6798	1357	47	3	1758	3	GRID1	10	87489302	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	11937510	87489302	48045445	131	11456											
ATAD1	84896	genome.wustl.edu	37	chr10	89544289	89544289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggagaagacagcagcaGccaatttctgagattctcca	14	7	10	10	0	2	3	0	1	2	3	3	5	2	3	2	1	3	2	2	1	3	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:89544289G>T	ENST00000308448.7	-	5	899	c.521C>A	c.(520-522)gCt>gAt	p.A174D	ATAD1_ENST00000400215.3_Missense_Mutation_p.A116D|ATAD1_ENST00000541004.1_Missense_Mutation_p.A174D|ATAD1_ENST00000328142.3_Missense_Mutation_p.A174D|ATAD1_ENST00000495903.1_5'Flank	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	174					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GACAGCAGCAGCCAATTTCTG	0.413																																																	0													144	133	136					10																	89544289		2203	4300	6503	SO:0001583	missense	0			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.521C>A	10.37:g.89544289G>T	ENSP00000339017:p.Ala174Asp		D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A174D	ENST00000308448.7	37	c.521	CCDS7386.1	10	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967867	0.92855	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000400215;ENST00000541004	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	5.35	5.35	0.76521	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.046660	0.85682	D	0.000000	D	0.96012	0.8701	M	0.64630	1.985	0.80722	D	1	D;D	0.59767	0.961;0.986	D;D	0.70227	0.949;0.968	D	0.95190	0.8307	9	.	.	.	-12.6682	19.439	0.94809	0.0:0.0:1.0:0.0	.	116;174	B4E2J1;Q8NBU5	.;ATAD1_HUMAN	D	174;174;116;174	ENSP00000339017:A174D;ENSP00000339016:A174D;ENSP00000412968:A116D;ENSP00000445500:A174D	.	A	-	2	0	ATAD1	89534269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.662000	0.90505	0.563000	0.77884	GCT	ATAD1	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000138138		0.413	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD1	HGNC	protein_coding	OTTHUMT00000049235.1	-	0	61	0	G	NM_032810		89544289	-1	tier1	-	no_errors	ENST00000308448	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	89544289	G	T	89544289	3	4	47	1	0	0	0	0	1	0	0	0	1071	971	34	3	588	3	ATAD1	10	89544289	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2054987	89544289	45990458	132	11457											
KIF20B	9585	genome.wustl.edu	37	chr10	91498738	91498738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagaggaactctctgcaaGctctgctcgtacccagaatc	12	8	9	12	1	2	2	0	0	2	2	5	4	2	3	1	1	5	4	1	1	5	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:91498738G>T	ENST00000371728.3	+	21	3865	c.3800G>T	c.(3799-3801)aGc>aTc	p.S1267I	KIF20B_ENST00000416354.1_Missense_Mutation_p.S1297I|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1227I|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1267I	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1267					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CTCTCTGCAAGCTCTGCTCGT	0.388																																																	0													94	95	95					10																	91498738		2202	4300	6502	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3800G>T	10.37:g.91498738G>T	ENSP00000360793:p.Ser1267Ile		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1297I	ENST00000371728.3	37	c.3890		10	.	.	.	.	.	.	.	.	.	.	G	9.945	1.218529	0.22373	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.70631	-0.44;-0.44;-0.5;-0.43	5.07	0.998	0.19857	.	0.404702	0.23973	N	0.042748	T	0.70894	0.3276	L	0.59436	1.845	0.30163	N	0.802007	P;P	0.48589	0.771;0.912	B;P	0.50934	0.305;0.654	T	0.69555	-0.5114	10	0.52906	T	0.07	-2.5869	10.0963	0.42478	0.2972:0.0:0.7028:0.0	.	1267;1227	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	I	1227;1297;1267;1267	ENSP00000260753:S1227I;ENSP00000411545:S1297I;ENSP00000377830:S1267I;ENSP00000360793:S1267I	ENSP00000260753:S1227I	S	+	2	0	KIF20B	91488718	0.950000	0.32346	0.835000	0.33067	0.190000	0.23558	1.618000	0.36954	0.241000	0.21283	-0.363000	0.07495	AGC	KIF20B	-	NULL	ENSG00000138182		0.388	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	59	0	G	NM_016195		91498738	1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.986	T	T	91498738	G	T	91498738	3	4	47	1	0	0	0	0	1	0	0	0	8314	971	34	3	3758	3	KIF20B	10	91498738	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1954449	91498738	44036009	133	11458											
COL17A1	1308	genome.wustl.edu	37	chr10	105819953	105819953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcagctccatctccttCttggcaggtgtgttgtcttt	5	16	10	10	0	3	1	0	1	3	0	5	1	4	1	2	2	2	4	2	2	0	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:105819953C>A	ENST00000353479.5	-	14	1355	c.1065G>T	c.(1063-1065)aaG>aaT	p.K355N	COL17A1_ENST00000369733.3_Missense_Mutation_p.K355N|COL17A1_ENST00000393211.3_Missense_Mutation_p.K355N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	355	Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCATCTCCTTCTTGGCAGGTG	0.537																																																	0													219	150	174					10																	105819953		2203	4300	6503	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.1065G>T	10.37:g.105819953C>A	ENSP00000340937:p.Lys355Asn		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.K355N	ENST00000353479.5	37	c.1065	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316496	0.60524	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.62788	0.0;0.0;0.0	5.73	5.73	0.89815	.	0.000000	0.47852	D	0.000207	T	0.76983	0.4064	M	0.71581	2.175	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.963	T	0.78804	-0.2060	10	0.87932	D	0	-14.8398	12.8023	0.57593	0.0:0.9248:0.0:0.0752	.	355;355	Q9UMD9-2;Q9UMD9	.;COHA1_HUMAN	N	355;355;339;355	ENSP00000340937:K355N;ENSP00000358748:K355N;ENSP00000376905:K355N	ENSP00000340937:K355N	K	-	3	2	COL17A1	105809943	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.750000	0.38329	2.713000	0.92767	0.655000	0.94253	AAG	COL17A1	-	NULL	ENSG00000065618		0.537	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	-	0	29	0	C	NM_130778, NM_000494		105819953	-1	tier1	-	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	105819953	C	A	105819953	3	1	47	1	0	0	0	0	1	0	0	0	3681	912	32	3	3600	3	COL17A1	10	105819953	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	14321215	105819953	29714794	134	11459											
DHX32	55760	genome.wustl.edu	37	chr10	127540925	127540925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatcctcttcataaaaagcaCcatgcttgttaggttggctt	10	15	7	9	0	2	0	1	0	1	0	3	0	3	0	2	2	2	5	2	2	5	7	rs17153669		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr10:127540925C>T	ENST00000284690.3	-	6	1778	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	DHX32_ENST00000284688.6_Missense_Mutation_p.V349M|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.V54M	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	430			V -> L (in dbSNP:rs17153669).			mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATAAAAAGCACCATGCTTGTT	0.473																																																	0													181	166	171					10																	127540925		2203	4300	6503	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.1288G>A	10.37:g.127540925C>T	ENSP00000284690:p.Val430Met		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.V430M	ENST00000284690.3	37	c.1288	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005625	0.93287	.	.	ENSG00000089876	ENST00000368721;ENST00000284690;ENST00000284688	T;T;T	0.03272	3.99;3.99;3.99	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	0.961;1.0	P;D	0.73380	0.85;0.98	T	0.00078	-1.2114	10	0.87932	D	0	-30.4062	18.885	0.92372	0.0:1.0:0.0:0.0	.	349;430	Q7L7V1-2;Q7L7V1	.;DHX32_HUMAN	M	54;430;349	ENSP00000357710:V54M;ENSP00000284690:V430M;ENSP00000284688:V349M	ENSP00000284688:V349M	V	-	1	0	DHX32	127530915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.399000	0.79935	2.691000	0.91804	0.655000	0.94253	GTG	DHX32	-	superfamily_P-loop_NTPase	ENSG00000089876		0.473	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2		0	45	0	C	NM_018180		127540925	-1			no_errors	ENST00000284690	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	127540925	C	T	127540925	3	4	47	1	0	0	0	0	1	0	0	0	4519	507	18	3	967	3	DHX32	10	127540925	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	21720972	127540925	7993822	135	11460											
SLC17A6	57084	genome.wustl.edu	37	chr11	22399084	22399084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacaagtgaagaaaaatGtggatttattcatgaagatg	18	10	11	2	0	1	4	1	2	0	2	1	6	1	6	0	2	1	0	0	2	7	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr11:22399084G>T	ENST00000263160.3	+	12	1984	c.1547G>T	c.(1546-1548)tGt>tTt	p.C516F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	516					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAAGAAAAATGTGGATTTATT	0.408																																																	0													69	76	73					11																	22399084		2201	4300	6501	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1547G>T	11.37:g.22399084G>T	ENSP00000263160:p.Cys516Phe		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.C516F	ENST00000263160.3	37	c.1547	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483315	0.63962	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.61510	0.1	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.71206	2.165	0.80722	D	1	B	0.19935	0.04	B	0.18561	0.022	T	0.58912	-0.7552	10	0.56958	D	0.05	.	20.1588	0.98128	0.0:0.0:1.0:0.0	.	516	Q9P2U8	VGLU2_HUMAN	F	516;404	ENSP00000263160:C516F	ENSP00000263160:C516F	C	+	2	0	SLC17A6	22355660	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	TGT	SLC17A6	-	NULL	ENSG00000091664		0.408	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	41	0	G	NM_020346		22399084	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T	T	22399084	G	T	22399084	3	4	47	1	0	0	0	0	1	0	0	0	14466	1377	48	3	1593	3	SLC17A6	11	22399084	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		22399084	112607432	136	11461											
ODZ4	26011	genome.wustl.edu	37	chr11	78381549	78381549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcggtcattcttgtcGaactcaaagatatactgcct	11	11	10	9	2	3	2	2	0	1	2	4	4	3	2	1	2	3	0	1	2	4	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr11:78381549G>T	ENST00000278550.7	-	32	6303	c.5841C>A	c.(5839-5841)ttC>ttA	p.F1947L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1947					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.F1947F(4)									CATTCTTGTCGAACTCAAAGA	0.532																																																	4	Substitution - coding silent(4)	large_intestine(4)											71	74	73					11																	78381549		2006	4165	6171	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5841C>A	11.37:g.78381549G>T	ENSP00000278550:p.Phe1947Leu		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F1947L	ENST00000278550.7	37	c.5841	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508273	0.64410	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.89746	-2.56;0.88	4.93	-7.43	0.01383	.	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	L	0.51422	1.61	0.49687	D	0.999813	D	0.63880	0.993	D	0.71656	0.974	D	0.89295	0.3622	9	.	.	.	.	18.0806	0.89440	0.7965:0.0:0.2035:0.0	.	1947	Q6N022	TEN4_HUMAN	L	1947;411	ENSP00000278550:F1947L;ENSP00000431711:F411L	.	F	-	3	2	ODZ4	78059197	0.565000	0.26610	0.870000	0.34147	0.999000	0.98932	-0.030000	0.12308	-1.382000	0.02109	0.655000	0.94253	TTC	TENM4	-	NULL	ENSG00000149256		0.532	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2		0	18	0	G			78381549	-1			no_errors	ENST00000278550	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.901	T	T	78381549	G	T	78381549	3	4	47	1	0	0	0	0	1	0	0	0	10876	1049	37	2	2480	2	ODZ4	11	78381549	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	55982465	78381549	56624967	137	11462											
ATM	472	genome.wustl.edu	37	chr11	108186796	108186796	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagtaacatatgacctcGaaacagcaatcccctcatca	14	8	4	15	1	2	1	2	1	0	0	4	2	3	1	4	0	3	2	4	0	5	3	rs202206540		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr11:108186796G>T	ENST00000452508.2	+	43	6343	c.6154G>T	c.(6154-6156)Gaa>Taa	p.E2052*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.E2052*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2052	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.E2052*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATATGACCTCGAAACAGCAAT	0.413			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	1	Substitution - Nonsense(1)	lung(1)	GRCh37	CS991309	ATM	S							118	103	108					11																	108186796		2201	4298	6499	SO:0001587	stop_gained	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.6154G>T	11.37:g.108186796G>T	ENSP00000388058:p.Glu2052*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2052*	ENST00000452508.2	37	c.6154	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	46	12.924845	0.99706	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.29	5.29	0.74685	.	0.151444	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.1094	0.86671	0.0:0.0:1.0:0.0	.	.	.	.	X	2052	.	ENSP00000278616:E2052X	E	+	1	0	ATM	107692006	1.000000	0.71417	0.999000	0.59377	0.360000	0.29518	6.712000	0.74681	2.473000	0.83533	0.484000	0.47621	GAA	ATM	-	superfamily_ARM-type_fold,pfscan_PIK_FAT	ENSG00000149311		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0	48	0	G	NM_000051		108186796	1			no_errors	ENST00000278616	ensembl	human	known	74_37	nonsense	5.88	48	3	SNP	1.000	T	T	108186796	G	T	108186796	4	4	47	1	0	0	0	0	0	1	0	0	1110	1059	37	2	6316	2	ATM	11	108186796	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	29805247	108186796	26819720	138	11463											
MPZL2	10205	genome.wustl.edu	37	chr11	118133240	118133240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtatgtcccattgtCgtcgaactgcagtttccaga	8	12	11	10	2	0	1	0	0	0	1	4	2	2	1	2	1	2	4	2	1	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr11:118133240C>A	ENST00000278937.2	-	3	477	c.349G>T	c.(349-351)Gac>Tac	p.D117Y	MPZL2_ENST00000438295.2_Missense_Mutation_p.D117Y|MPZL2_ENST00000525647.1_5'Flank	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	117	Ig-like V-type.				anatomical structure morphogenesis (GO:0009653)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)|T cell differentiation in thymus (GO:0033077)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D117N(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCCCATTGTCGTCGAACTGC	0.557																																																	1	Substitution - Missense(1)	endometrium(1)											157	114	129					11																	118133240		2200	4296	6496	SO:0001583	missense	0			AF275945	CCDS8393.1	11q24	2013-01-11	2007-08-01	2007-08-01		ENSG00000149573		"Immunoglobulin superfamily / V-set domain containing"	3496	protein-coding gene	gene with protein product		604873	"epithelial V-like antigen 1"	EVA1		9585423	Standard	NM_005797		Approved	EVA	uc001psn.3	O60487		ENST00000278937.2:c.349G>T	11.37:g.118133240C>A	ENSP00000278937:p.Asp117Tyr		A8K2R1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.D117Y	ENST00000278937.2	37	c.349	CCDS8393.1	11	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858027	0.71834	.	.	ENSG00000149573	ENST00000278937;ENST00000438295	D;D	0.88124	-2.34;-2.34	5.98	5.98	0.97165	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.138020	0.64402	D	0.000003	D	0.88358	0.6415	L	0.58428	1.81	0.58432	D	0.999996	P	0.50156	0.932	P	0.45558	0.485	D	0.88727	0.3234	10	0.62326	D	0.03	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	117	O60487	MPZL2_HUMAN	Y	117	ENSP00000278937:D117Y;ENSP00000408362:D117Y	ENSP00000278937:D117Y	D	-	1	0	MPZL2	117638450	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.864000	0.69575	2.835000	0.97688	0.650000	0.86243	GAC	MPZL2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	ENSG00000149573		0.557	MPZL2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MPZL2	HGNC	protein_coding	OTTHUMT00000392113.1		0	60	0	C	NM_005797		118133240	-1			no_errors	ENST00000438295	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	118133240	C	A	118133240	3	1	47	1	0	0	0	0	1	0	0	0	9788	884	31	2	310	2	MPZL2	11	118133240	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	9946444	118133240	16873276	139	11464											
HYOU1	10525	genome.wustl.edu	37	chr11	118925720	118925720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcttcagctagagaacGagaataattgagaaccatgc	18	8	8	7	1	2	3	1	1	1	3	2	6	2	3	1	0	4	1	1	0	7	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr11:118925720G>T	ENST00000404233.3	-	6	596	c.472C>A	c.(472-474)Cgt>Agt	p.R158S	HYOU1_ENST00000529972.1_Missense_Mutation_p.R158S|HYOU1_ENST00000543287.1_Missense_Mutation_p.R71S|HYOU1_ENST00000525859.1_Missense_Mutation_p.R158S	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	158					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)	p.R158C(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCTAGAGAACGAGAATAATTG	0.537																																																	2	Substitution - Missense(2)	large_intestine(2)											117	98	105					11																	118925720		2200	4295	6495	SO:0001583	missense	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.472C>A	11.37:g.118925720G>T	ENSP00000384144:p.Arg158Ser		A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R158S	ENST00000404233.3	37	c.472	CCDS8408.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646326	0.87958	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000529972;ENST00000536103;ENST00000535579;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.01051	5.4;5.4;5.4;5.4;5.4	4.96	4.96	0.65561	.	0.049673	0.85682	D	0.000000	T	0.06917	0.0176	M	0.75615	2.305	0.58432	D	0.999997	D;D;D;D	0.89917	0.999;0.997;1.0;1.0	D;D;D;D	0.78314	0.986;0.951;0.991;0.991	T	0.02313	-1.1178	10	0.87932	D	0	-8.7309	16.5649	0.84576	0.0:0.0:1.0:0.0	.	149;202;158;158	B3KXH0;B7Z2N4;Q9Y4L1;A8C1Z0	.;.;HYOU1_HUMAN;.	S	158;149;158;158;7;158;201;71;158	ENSP00000384144:R158S;ENSP00000437313:R158S;ENSP00000433397:R158S;ENSP00000442727:R71S;ENSP00000431874:R158S	ENSP00000278752:R149S	R	-	1	0	HYOU1	118430930	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	3.777000	0.55364	2.564000	0.86499	0.561000	0.74099	CGT	HYOU1	-	pfam_Hsp_70_fam	ENSG00000149428		0.537	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1		0	38	0	G	NM_006389		118925720	-1			no_errors	ENST00000404233	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.996	T	T	118925720	G	T	118925720	3	4	47	1	0	0	0	0	1	0	0	0	7497	1058	37	2	2611	2	HYOU1	11	118925720	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	792480	118925720	16080796	140	11465											
MFRP	83552	genome.wustl.edu	37	chr11	119215692	119215692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcattggtgttgagcgtggGgggaggcacccttccacaaa	8	8	16	9	1	0	1	0	1	0	0	1	2	1	2	2	6	1	3	2	6	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr11:119215692G>T	ENST00000530681.1	-	6	808	c.664C>A	c.(664-666)Ccc>Acc	p.P222T	MFRP_ENST00000555262.1_Missense_Mutation_p.P222T|MFRP_ENST00000360167.4_Missense_Mutation_p.P222T|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.P222T|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	222	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TTGAGCGTGGGGGGAGGCACC	0.612																																																	0			GRCh37	CM090350	MFRP	M							28	23	25					11																	119215692		2198	4292	6490	SO:0001583	missense	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.664C>A	11.37:g.119215692G>T	ENSP00000456533:p.Pro222Thr		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.P222T	ENST00000530681.1	37	c.664	CCDS8421.1	11	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852858	0.51270	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.17370	2.28;2.28;2.28	5.1	2.99	0.34606	CUB (5);	0.187403	0.47852	D	0.000215	T	0.22044	0.0531	L	0.45051	1.395	0.42933	D	0.99432	P;P	0.48998	0.644;0.918	B;P	0.52454	0.326;0.699	T	0.01800	-1.1271	10	0.31617	T	0.26	-17.4791	10.8927	0.47004	0.0:0.3691:0.5195:0.1115	.	222;222	B4DHN8;Q9BY79	.;MFRP_HUMAN	T	222	ENSP00000450509:P222T;ENSP00000391664:P222T;ENSP00000353291:P222T	ENSP00000353291:P222T	P	-	1	0	MFRP	118720902	1.000000	0.71417	0.975000	0.42487	0.930000	0.56654	2.463000	0.45058	1.237000	0.43756	0.561000	0.74099	CCC	MFRP	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000235718		0.612	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	HGNC	protein_coding	OTTHUMT00000415179.1	-	0	49	0	G	NM_031433		119215692	-1	tier1	-	no_errors	ENST00000449574	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.860	T	T	119215692	G	T	119215692	3	4	47	1	0	0	0	0	1	0	0	0	9564	1232	43	3	1107	3	MFRP	11	119215692	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	289972	119215692	15790824	141	11466											
PTPRO	5800	genome.wustl.edu	37	chr12	15747947	15747947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttctgcatcagtgatgTcatatacgagaatgttagca	12	12	10	7	1	3	2	2	1	1	1	3	3	3	2	0	0	3	5	0	0	4	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr12:15747947T>C	ENST00000281171.4	+	26	3953	c.3623T>C	c.(3622-3624)gTc>gCc	p.V1208A	PTPRO_ENST00000544244.1_Missense_Mutation_p.V369A|PTPRO_ENST00000542557.1_Missense_Mutation_p.V369A|PTPRO_ENST00000348962.2_Missense_Mutation_p.V1180A|PTPRO_ENST00000445537.2_Missense_Mutation_p.V397A|PTPRO_ENST00000442921.2_Missense_Mutation_p.V397A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1208					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATCAGTGATGTCATATACGAG	0.438																																																	0													140	121	127					12																	15747947		2203	4300	6503	SO:0001583	missense	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3623T>C	12.37:g.15747947T>C	ENSP00000281171:p.Val1208Ala		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V1208A	ENST00000281171.4	37	c.3623	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167311	0.78339	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.04049	3.72;3.88;3.75;3.8;3.75;3.8	4.83	4.83	0.62350	.	0.000000	0.39146	N	0.001444	T	0.07999	0.0200	L	0.41573	1.285	0.50039	D	0.999846	B;D;P	0.57571	0.058;0.98;0.935	B;P;B	0.51229	0.024;0.663;0.315	T	0.47262	-0.9131	10	0.12766	T	0.61	.	14.5704	0.68208	0.0:0.0:0.0:1.0	.	369;1180;1208	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	A	1208;1180;397;369;397;369	ENSP00000281171:V1208A;ENSP00000343434:V1180A;ENSP00000404188:V397A;ENSP00000437571:V369A;ENSP00000393449:V397A;ENSP00000439234:V369A	ENSP00000281171:V1208A	V	+	2	0	PTPRO	15639214	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.516000	0.81772	2.028000	0.59812	0.533000	0.62120	GTC	PTPRO	-	NULL	ENSG00000151490		0.438	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1		0	39	0	T			15747947	1			no_errors	ENST00000281171	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	C	C	15747947	T	C	15747947	3	2	47	1	0	0	0	0	1	0	0	0	12854	1667	58	4	3725	4	PTPRO	12	15747947	Missense_Mutation	SNP	T	TCGA-KH-A6WC-01A-11D-A33E-09		15747947	118103948	142	11467											
LRRK2	120892	genome.wustl.edu	37	chr12	40645141	40645141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctggaagcctgttacaaaGcattaacgtggcatagaaag	14	8	12	7	1	0	1	0	0	0	1	0	2	0	2	1	3	4	4	1	3	6	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr12:40645141G>T	ENST00000298910.7	+	9	1124	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	LRRK2_ENST00000343742.2_Missense_Mutation_p.A356S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	356					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGTTACAAAGCATTAACGTG	0.333											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													72	78	76					12																	40645141		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1066G>T	12.37:g.40645141G>T	ENSP00000298910:p.Ala356Ser	895	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.A356S	ENST00000298910.7	37	c.1066	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686123	0.47991	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.35236	1.32;1.32	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	L	0.31926	0.97	0.40767	D	0.983055	D	0.71674	0.998	D	0.63488	0.915	T	0.42189	-0.9466	10	0.48119	T	0.1	.	16.3317	0.83023	0.0:0.0:1.0:0.0	.	356	Q5S007	LRRK2_HUMAN	S	356	ENSP00000341930:A356S;ENSP00000298910:A356S	ENSP00000298910:A356S	A	+	1	0	LRRK2	38931408	1.000000	0.71417	0.836000	0.33094	0.614000	0.37383	6.607000	0.74163	2.599000	0.87857	0.655000	0.94253	GCA	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	106	0	G	XM_058513		40645141	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.988	T	T	40645141	G	T	40645141	3	4	47	1	0	0	0	0	1	0	0	0	9068	971	34	3	1100	3	LRRK2	12	40645141	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	24897194	40645141	93206754	143	11468											
MLL2	8085	genome.wustl.edu	37	chr12	49427264	49427264	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaggtgctgctgctgctGttgctgctgctgctgctgct	3	14	14	10	0	0	1	0	0	0	1	0	1	0	1	0	1	10	11	0	1	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr12:49427264G>A	ENST00000301067.7	-	39	11223	c.11224C>T	c.(11224-11226)Cag>Tag	p.Q3742*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3742	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										tgctgctgctgttgctgctgc	0.587																																																	0													15	18	17					12																	49427264		2196	4294	6490	SO:0001587	stop_gained	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11224C>T	12.37:g.49427264G>A	ENSP00000301067:p.Gln3742*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3742*	ENST00000301067.7	37	c.11224	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	50	16.224109	0.99857	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.11	5.11	0.69529	.	0.000000	0.33180	N	0.005189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6784	0.88236	0.0:0.0:1.0:0.0	.	.	.	.	X	3742	.	ENSP00000301067:Q3742X	Q	-	1	0	MLL2	47713531	0.916000	0.31088	0.998000	0.56505	0.192000	0.23643	3.000000	0.49481	2.547000	0.85894	0.462000	0.41574	CAG	KMT2D	-	NULL	ENSG00000167548		0.587	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	50	0	G			49427264	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	16.67	45	9	SNP	0.998	A	A	49427264	G	A	49427264	4	1	47	1	0	0	0	0	0	1	0	0	9659	1386	48	3	5453	3	MLL2	12	49427264	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	8782123	49427264	84424631	144	11469											
AAAS	8086	genome.wustl.edu	37	chr12	53702239	53702239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcaccatctggtgtCtgtattgttgtctcagacag	6	15	8	12	0	5	1	2	0	4	1	7	1	5	1	2	1	0	2	2	1	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr12:53702239C>A	ENST00000209873.4	-	12	1326	c.1161G>T	c.(1159-1161)caG>caT	p.Q387H	AAAS_ENST00000549983.1_5'Flank|AAAS_ENST00000394384.3_Missense_Mutation_p.Q354H|AAAS_ENST00000550286.1_Missense_Mutation_p.Q263H	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	387					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CATCTGGTGTCTGTATTGTTG	0.522																																																	0													281	209	233					12																	53702239		2203	4300	6503	SO:0001583	missense	0			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"WD repeat domain containing"	13666	protein-coding gene	gene with protein product	"aladin", "Allgrove, triple-A"	605378	"achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.1161G>T	12.37:g.53702239C>A	ENSP00000209873:p.Gln387His		Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q387H	ENST00000209873.4	37	c.1161	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124635	0.56613	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286	T;T;T	0.78246	-1.16;-1.16;-1.16	4.43	2.56	0.30785	WD40/YVTN repeat-like-containing domain (1);	0.620854	0.17346	N	0.177568	T	0.52224	0.1721	N	0.08118	0	0.24037	N	0.996091	P;B	0.48294	0.908;0.0	B;B	0.39027	0.288;0.0	T	0.47142	-0.9140	10	0.42905	T	0.14	-7.1273	4.6584	0.12630	0.0:0.6207:0.1829:0.1963	.	354;387	Q5JB47;Q9NRG9	.;AAAS_HUMAN	H	387;354;263	ENSP00000209873:Q387H;ENSP00000377908:Q354H;ENSP00000446885:Q263H	ENSP00000209873:Q387H	Q	-	3	2	AAAS	51988506	0.980000	0.34600	0.971000	0.41717	0.982000	0.71751	0.493000	0.22451	0.608000	0.30000	0.456000	0.33151	CAG	AAAS	-	NULL	ENSG00000094914		0.522	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	-	0	32	0	C			53702239	-1	tier1	-	no_errors	ENST00000209873	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.570	A	A	53702239	C	A	53702239	3	1	47	1	0	0	0	0	1	0	0	0	8	912	32	3	499	3	AAAS	12	53702239	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	4274975	53702239	80149656	145	11470											
CDK8	1024	genome.wustl.edu	37	chr13	26967644	26967644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgtaatgggatttcctGcaggtacacattattcgttt	10	16	8	7	1	1	0	1	0	0	0	3	1	2	1	1	2	2	4	1	2	4	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr13:26967644G>T	ENST00000381527.3	+	7	1290	c.787G>T	c.(787-789)Gca>Tca	p.A263S	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGGATTTCCTGCAGGTACACA	0.358																																																	0													177	170	172					13																	26967644		2203	4300	6503	SO:0001583	missense	0			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.787G>T	13.37:g.26967644G>T	ENSP00000370938:p.Ala263Ser		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A263S	ENST00000381527.3	37	c.787	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590279	0.46214	.	.	ENSG00000132964	ENST00000381527	T	0.39787	1.06	5.56	5.56	0.83823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	N	0.01624	-0.795	0.80722	D	1	B;B	0.21520	0.046;0.057	B;B	0.22880	0.025;0.042	T	0.15665	-1.0429	10	0.18710	T	0.47	-12.1841	19.8807	0.96899	0.0:0.0:1.0:0.0	.	263;263	P49336-2;P49336	.;CDK8_HUMAN	S	263	ENSP00000370938:A263S	ENSP00000370938:A263S	A	+	1	0	CDK8	25865644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.771000	0.95319	0.650000	0.86243	GCA	CDK8	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000132964		0.358	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	-	0	56	0	G			26967644	1	tier1	-	no_errors	ENST00000381527	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	26967644	G	T	26967644	3	4	47	1	0	0	0	0	1	0	0	0	3157	1319	46	3	813	3	CDK8	13	26967644	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		26967644	88202234	146	11471											
FRY	10129	genome.wustl.edu	37	chr13	32709077	32709077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgaggtcaaagacaaaGatatcaagcatgccttggct	13	9	9	10	1	2	2	2	0	0	2	4	3	3	2	2	2	2	2	2	2	4	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr13:32709077G>T	ENST00000380250.3	+	9	1418	c.922G>T	c.(922-924)Gat>Tat	p.D308Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	308						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAAGACAAAGATATCAAGCA	0.383																																																	0													158	150	153					13																	32709077		1892	4102	5994	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.922G>T	13.37:g.32709077G>T	ENSP00000369600:p.Asp308Tyr		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D308Y	ENST00000380250.3	37	c.922	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820123	0.90873	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.25912	1.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.83692	2.655	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.59669	-0.7411	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	308	Q5TBA9	FRY_HUMAN	Y	308;236	ENSP00000369600:D308Y	ENSP00000267067:D236Y	D	+	1	0	FRY	31607077	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	9.718000	0.98758	2.941000	0.99782	0.655000	0.94253	GAT	FRY	-	NULL	ENSG00000073910		0.383	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1		0	48	0	G	NM_023037		32709077	1			no_errors	ENST00000380250	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	32709077	G	T	32709077	3	4	47	1	0	0	0	0	1	0	0	0	6087	942	33	3	956	3	FRY	13	32709077	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	5741433	32709077	82460801	147	11472											
MDGA2	161357	genome.wustl.edu	37	chr14	47613427	47613427	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcatagtaaaattgttCtttagcttcacctatacttt	10	19	3	9	0	4	0	2	0	2	0	5	0	4	0	1	0	2	3	1	0	6	10			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr14:47613427C>A	ENST00000399232.2	-	4	803	c.439G>T	c.(439-441)Gaa>Taa	p.E147*	MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Nonsense_Mutation_p.E216*|MDGA2_ENST00000426342.1_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	147	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAAATTGTTCTTTAGCTTCA	0.408																																																	0													145	130	134					14																	47613427		692	1591	2283	SO:0001587	stop_gained	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.439G>T	14.37:g.47613427C>A	ENSP00000382178:p.Glu147*		F6W3S7|J3KPX6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.E216*	ENST00000399232.2	37	c.646		14	.	.	.	.	.	.	.	.	.	.	C	37	6.023335	0.97211	.	.	ENSG00000139915	ENST00000439988;ENST00000399232	.	.	.	5.52	5.52	0.82312	.	0.000000	0.52532	U	0.000071	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	18.0133	0.89231	0.0:1.0:0.0:0.0	.	.	.	.	X	147;216	.	ENSP00000382178:E216X	E	-	1	0	MDGA2	46683177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.412000	0.80091	2.608000	0.88229	0.585000	0.79938	GAA	MDGA2	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000272781		0.408	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	87	0	C	NM_182830		47613427	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	nonsense	23.08	10	3	SNP	1.000	A	A	47613427	C	A	47613427	4	1	47	1	0	0	0	0	0	1	0	0	9445	922	32	3	2487	3	MDGA2	14	47613427	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09		47613427	59736113	148	11473											
EXOC5	10640	genome.wustl.edu	37	chr14	57710888	57710888	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacagcacttaccttttCagaatttgtaaaaacatcag	14	13	5	9	0	3	2	2	1	1	1	3	2	3	2	1	0	3	2	1	0	5	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr14:57710888C>A	ENST00000413566.2	-	4	819	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	EXOC5_ENST00000556911.1_5'UTR|EXOC5_ENST00000340918.7_Intron	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	154					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle docking (GO:0048278)	cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E154K(1)		breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CTTACCTTTTCAGAATTTGTA	0.363																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											75	68	70					14																	57710888		1834	4080	5914	SO:0001587	stop_gained	0			U85946	CCDS45111.1	14q22.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000070367	ENSG00000070367			10696	protein-coding gene	gene with protein product		604469	"SEC10 (S. cerevisiae)-like 1", "SEC10-like 1 (S. cerevisiae)"	SEC10L1		9119050	Standard	XM_005267272		Approved	SEC10, SEC10P	uc001xct.3	O00471	OTTHUMG00000171309	ENST00000413566.2:c.460G>T	14.37:g.57710888C>A	ENSP00000389934:p.Glu154*		B2R6C5	Nonsense_Mutation	SNP	pfam_Sec10-like	p.E154*	ENST00000413566.2	37	c.460	CCDS45111.1	14	.	.	.	.	.	.	.	.	.	.	C	38	7.143326	0.98092	.	.	ENSG00000070367	ENST00000413566	.	.	.	5.52	5.52	0.82312	.	0.044471	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-17.0043	19.4226	0.94727	0.0:1.0:0.0:0.0	.	.	.	.	X	154	.	ENSP00000389934:E154X	E	-	1	0	EXOC5	56780641	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.089000	0.71384	2.591000	0.87537	0.591000	0.81541	GAA	EXOC5	-	pfam_Sec10-like	ENSG00000070367		0.363	EXOC5-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EXOC5	HGNC	protein_coding	OTTHUMT00000412905.1		0	50	0	C	NM_006544		57710888	-1			no_errors	ENST00000413566	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	A	A	57710888	C	A	57710888	4	1	47	1	0	0	0	0	0	1	0	0	5323	835	29	3	1726	3	EXOC5	14	57710888	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	10097461	57710888	49638652	149	11474											
TMEM90A	646658	genome.wustl.edu	37	chr14	74874689	74874689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccgttgaagtggcatCgctctgcaaaacagtggagt	10	10	11	10	2	2	1	0	1	2	0	4	2	2	2	1	2	2	4	1	2	3	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr14:74874689C>A	ENST00000554823.1	-	2	482	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.D141Y			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	141					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.D141N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GAAGTGGCATCGCTCTGCAAA	0.552																																																	1	Substitution - Missense(1)	skin(1)											92	96	95					14																	74874689		2203	4300	6503	SO:0001583	missense	0				CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"caudate-and putamen-enriched sequence", "interferon induced transmembrane protein domain containing 4"	609999	"transmembrane protein 90A"	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.421G>T	14.37:g.74874689C>A	ENSP00000450439:p.Asp141Tyr			Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.D141Y	ENST00000554823.1	37	c.421	CCDS41970.1	14	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656981	0.47467	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.96300	-3.97;-3.97	5.13	4.24	0.50183	.	0.000000	0.85682	D	0.000000	D	0.96944	0.9002	L	0.46157	1.445	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.97373	0.9977	10	0.72032	D	0.01	-0.2473	13.7637	0.62981	0.0:0.9264:0.0:0.0735	.	141	A6NDD5	SYN1L_HUMAN	Y	141	ENSP00000331474:D141Y;ENSP00000450439:D141Y	ENSP00000331474:D141Y	D	-	1	0	SYNDIG1L	73944442	1.000000	0.71417	0.909000	0.35828	0.079000	0.17450	5.409000	0.66374	1.388000	0.46506	-0.140000	0.14226	GAT	SYNDIG1L	-	NULL	ENSG00000183379		0.552	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYNDIG1L	HGNC	protein_coding	OTTHUMT00000412341.1	-	0	34	0	C	XM_938515		74874689	-1	tier1	-	no_errors	ENST00000331628	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	74874689	C	A	74874689	3	1	47	1	0	0	0	0	1	0	0	0	16265	884	31	2	303	2	TMEM90A	14	74874689	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	17163801	74874689	32474851	150	11475											
SPATA7	55812	genome.wustl.edu	37	chr14	88904395	88904395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttggatatgttattgtcgGcaccaaaggatgagaacgag	12	11	12	6	2	0	1	0	1	0	1	1	5	0	3	1	3	1	2	1	3	4	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr14:88904395G>A	ENST00000393545.4	+	12	1718	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	SPATA7_ENST00000356583.5_Missense_Mutation_p.A445T|SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000556553.1_Missense_Mutation_p.A445T	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	477					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTTATTGTCGGCACCAAAGGA	0.363																																																	0													70	65	67					14																	88904395		2203	4300	6503	SO:0001583	missense	0			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"Leber congenital amaurosis 3"	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1429G>A	14.37:g.88904395G>A	ENSP00000377176:p.Ala477Thr		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	NULL	p.A477T	ENST00000393545.4	37	c.1429	CCDS9883.1	14	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443031	0.25987	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583	T;T;T	0.26373	1.74;1.75;1.74	5.87	1.91	0.25777	.	1.348350	0.04653	N	0.407552	T	0.17492	0.0420	N	0.22421	0.69	0.09310	N	1	B;B;B	0.26258	0.145;0.062;0.145	B;B;B	0.24701	0.053;0.055;0.053	T	0.28235	-1.0050	10	0.23891	T	0.37	0.4096	5.4369	0.16486	0.2409:0.1786:0.5804:0.0	.	445;445;477	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	T	445;477;445	ENSP00000451128:A445T;ENSP00000377176:A477T;ENSP00000348991:A445T	ENSP00000348991:A445T	A	+	1	0	SPATA7	87974148	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.800000	0.04555	0.127000	0.18452	0.655000	0.94253	GCA	SPATA7	-	NULL	ENSG00000042317		0.363	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1		0	56	0	G			88904395	1			no_errors	ENST00000393545	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	A	A	88904395	G	A	88904395	3	1	47	1	0	0	0	0	1	0	0	0	15061	1203	42	3	1475	3	SPATA7	14	88904395	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	14029706	88904395	18445145	151	11476											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890704	23890704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctctttagaggagcccCtgcggtctatagaagaggcc	8	9	13	11	2	2	3	0	0	2	3	2	4	2	4	3	3	3	1	3	3	4	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:23890704C>A	ENST00000532292.1	-	1	471	c.377G>T	c.(376-378)aGg>aTg	p.R126M		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	9					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGGAGCCCCTGCGGTCTAT	0.587																																																	0													24	25	25					15																	23890704		1881	4109	5990	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.377G>T	15.37:g.23890704C>A	ENSP00000433433:p.Arg126Met			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R126M	ENST00000532292.1	37	c.377		15	.	.	.	.	.	.	.	.	.	.	c	14.74	2.626299	0.46840	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.07	3.15	0.36227	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.17776	-1.0358	5	.	.	.	.	5.0188	0.14350	0.2074:0.6864:0.0:0.1061	.	.	.	.	W	158	.	.	G	-	1	0	MAGEL2	21441797	0.000000	0.05858	0.017000	0.16124	0.004000	0.04260	0.360000	0.20250	1.288000	0.44600	0.651000	0.88453	GGG	MAGEL2	-	NULL	ENSG00000254585		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	47	0	C	NM_019066		23890704	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.021	A	A	23890704	C	A	23890704	3	1	47	1	0	0	0	0	1	0	0	0	9227	681	24	3	1567	3	MAGEL2	15	23890704	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09		23890704	78640688	152	11477											
NDN	4692	genome.wustl.edu	37	chr15	23932244	23932244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctagaggagggctctgcgGctctgccagggtcgcggacg	5	6	18	12	4	2	1	0	0	2	1	3	3	2	3	2	5	2	2	2	5	1	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:23932244G>T	ENST00000331837.4	-	1	206	c.121C>A	c.(121-123)Ccg>Acg	p.P41T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	41					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P41S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGCTCTGCGGCTCTGCCAGG	0.726									Prader-Willi syndrome																																								1	Substitution - Missense(1)	ovary(1)											8	9	9					15																	23932244		1689	3312	5001	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.121C>A	15.37:g.23932244G>T	ENSP00000332643:p.Pro41Thr		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P41T	ENST00000331837.4	37	c.121	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518671	0.27211	.	.	ENSG00000182636	ENST00000331837	T	0.02197	4.4	3.09	0.0374	0.14196	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.47535	-0.9110	9	0.48119	T	0.1	.	2.6315	0.04946	0.261:0.0:0.5115:0.2275	.	41	Q99608	NECD_HUMAN	T	41	ENSP00000332643:P41T	ENSP00000332643:P41T	P	-	1	0	NDN	21483337	0.037000	0.19845	0.008000	0.14137	0.023000	0.10783	0.980000	0.29513	0.012000	0.14892	0.561000	0.74099	CCG	NDN	-	NULL	ENSG00000182636		0.726	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2		0	10	0	G	NM_002487		23932244	-1			no_errors	ENST00000331837	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.008	T	T	23932244	G	T	23932244	3	4	47	1	0	0	0	0	1	0	0	0	10286	1203	42	3	848	3	NDN	15	23932244	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	41540	23932244	78599148	153	11478											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42133048	42133048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcagtactgtttgatgCggggactctgcgggctgggg	4	12	18	7	2	2	1	1	1	1	0	2	2	2	2	0	5	3	4	0	5	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:42133048C>T	ENST00000452633.1	+	5	648	c.296C>T	c.(295-297)gCg>gTg	p.A99V	PLA2G4B_ENST00000458483.1_Missense_Mutation_p.A99V|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.A330V|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.A330V|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.A330V			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	99					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CTGTTTGATGCGGGGACTCTG	0.582																																																	0													98	87	91					15																	42133048		2203	4300	6503	SO:0001583	missense	0			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.296C>T	15.37:g.42133048C>T	ENSP00000396045:p.Ala99Val		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.A330V	ENST00000452633.1	37	c.989	CCDS45241.1	15	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395806	0.01175	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.04	-1.63	0.08345	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.902315	0.09383	N	0.809594	T	0.01421	0.0046	N	0.00104	-2.125	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.45818	-0.9235	10	0.02654	T	1	-3.8655	9.7902	0.40702	0.0:0.3747:0.0:0.6253	.	99;330;330	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	V	330;330;99;99	ENSP00000371886:A330V;ENSP00000342785:A330V;ENSP00000416610:A99V;ENSP00000396045:A99V	ENSP00000342785:A330V	A	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39920340	0.005000	0.15991	0.036000	0.18154	0.038000	0.13279	0.008000	0.13197	-0.308000	0.08792	-1.202000	0.01658	GCG	JMJD7-PLA2G4B	-	superfamily_C2_dom,smart_C2_dom	ENSG00000168970		0.582	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1		0	24	0	C	NM_001114633		42133048	1			no_errors	ENST00000382448	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.403	T	T	42133048	C	T	42133048	3	4	47	1	0	0	0	0	1	0	0	0	7982	768	27	1	1023	1	JMJD7-PLA2G4B	15	42133048	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	18200804	42133048	60398344	154	11479											
SLC12A1	6557	genome.wustl.edu	37	chr15	48537005	48537005	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgacaccatcatttctggGatgaactgcaatggttcagc	12	11	9	9	0	3	2	2	2	1	0	3	3	3	3	1	2	3	2	1	2	3	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:48537005G>T	ENST00000558405.1	+	10	1370	c.1356G>T	c.(1354-1356)ggG>ggT	p.G452G	SLC12A1_ENST00000396577.3_Silent_p.G452G|SLC12A1_ENST00000380993.3_Silent_p.G452G			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	452					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCATTTCTGGGATGAACTGCA	0.473																																																	0													136	114	121					15																	48537005		2198	4297	6495	SO:0001819	synonymous_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1356G>T	15.37:g.48537005G>T			A8JYA2|E9PDW4	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G452	ENST00000558405.1	37	c.1356	CCDS10129.2	15																																																																																			SLC12A1	-	pfam_AA-permease/SLC12A_dom,prints_Na/K/Cl_cotranspt2,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.473	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	43	0	G			48537005	1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.972	T	T	48537005	G	T	48537005	2	4	47	1	0	0	0	0	0	0	0	1	14427	1161	41	3		3	SLC12A1	15	48537005	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	6403957	48537005	53994387	155	11480											
SECISBP2L	9728	genome.wustl.edu	37	chr15	49319645	49319645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaaggttttttctgagttgCctggcaagttacattggacc	8	14	10	9	0	1	1	0	1	1	0	1	2	1	2	3	3	2	4	3	3	3	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:49319645C>A	ENST00000559471.1	-	7	1215	c.952G>T	c.(952-954)Gca>Tca	p.A318S	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.A318S	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	318							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCTGAGTTGCCTGGCAAGTT	0.318																																																	0													103	101	102					15																	49319645		2197	4295	6492	SO:0001583	missense	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.952G>T	15.37:g.49319645C>A	ENSP00000453854:p.Ala318Ser		Q8N767	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.A318S	ENST00000559471.1	37	c.952	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327042	0.81690	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.89552	-2.53	5.95	5.0	0.66597	.	0.156175	0.56097	D	0.000032	D	0.88273	0.6392	L	0.29908	0.895	0.37666	D	0.922946	P;D	0.55605	0.953;0.972	P;P	0.53912	0.551;0.737	D	0.90627	0.4564	10	0.62326	D	0.03	.	14.1789	0.65562	0.0:0.9245:0.0:0.0755	.	318;318	Q93073;Q93073-2	SBP2L_HUMAN;.	S	318	ENSP00000261847:A318S	ENSP00000261847:A318S	A	-	1	0	SECISBP2L	47106937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.380000	0.59581	1.433000	0.47394	-0.345000	0.07892	GCA	SECISBP2L	-	NULL	ENSG00000138593		0.318	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	HGNC	protein_coding	OTTHUMT00000417277.1	-	0	47	0	C	NM_014701		49319645	-1	tier1	-	no_errors	ENST00000559471	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	49319645	C	A	49319645	3	1	47	1	0	0	0	0	1	0	0	0	14052	739	26	3	2262	3	SECISBP2L	15	49319645	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	782640	49319645	53211747	156	11481											
CYP11A1	1583	genome.wustl.edu	37	chr15	74635355	74635355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcatctctgtgacgttgGccttgatgtcctcgaaggac	7	11	11	12	2	1	2	0	2	1	0	4	4	2	3	3	2	1	2	3	2	1	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:74635355G>T	ENST00000268053.6	-	5	1107	c.953C>A	c.(952-954)gCc>gAc	p.A318D	CYP11A1_ENST00000358632.4_Missense_Mutation_p.A160D|CYP11A1_ENST00000419019.2_Missense_Mutation_p.A160D|CYP11A1_ENST00000541301.1_3'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	318					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TGTGACGTTGGCCTTGATGTC	0.587																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													147	114	125					15																	74635355		2197	4296	6493	SO:0001583	missense	0			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.953C>A	15.37:g.74635355G>T	ENSP00000268053:p.Ala318Asp		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A318D	ENST00000268053.6	37	c.953	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571802	0.65765	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.72167	-0.63;-0.63;-0.63	4.46	3.49	0.39957	.	0.052912	0.85682	D	0.000000	T	0.79907	0.4527	L	0.52823	1.66	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.991;1.0	T	0.82500	-0.0426	10	0.87932	D	0	-15.1298	13.9683	0.64223	0.0:0.1527:0.8473:0.0	.	288;318	B4DTE5;P05108	.;CP11A_HUMAN	D	318;160;160;83	ENSP00000268053:A318D;ENSP00000351455:A160D;ENSP00000405488:A160D	ENSP00000268053:A318D	A	-	2	0	CYP11A1	72422408	1.000000	0.71417	0.997000	0.53966	0.355000	0.29361	6.060000	0.71141	2.035000	0.60131	0.442000	0.29010	GCC	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000140459		0.587	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1		0	42	0	G			74635355	-1			no_errors	ENST00000268053	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	74635355	G	T	74635355	3	4	47	1	0	0	0	0	1	0	0	0	4153	1203	42	3	632	3	CYP11A1	15	74635355	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	25315710	74635355	27896037	157	11482											
MRPS11	64963	genome.wustl.edu	37	chr15	89018469	89018469	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcatagccgcagcggCggtaagtgtgtgttccttct	7	10	14	10	3	1	0	0	0	1	0	2	0	2	0	2	3	3	5	2	3	2	4	rs561515348		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:89018469C>A	ENST00000325844.4	+	4	675	c.410C>A	c.(409-411)gCg>gAg	p.A137E	MRPS11_ENST00000557974.1_3'UTR|MRPS11_ENST00000353598.6_Splice_Site_p.A104E	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	137					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCGCAGCGGCGGTAAGTGTG	0.522																																																	0													124	103	110					15																	89018469		2201	4299	6500	SO:0001630	splice_region_variant	0			AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"Mitochondrial ribosomal proteins / small subunits"	14050	protein-coding gene	gene with protein product	"cervical cancer proto-oncogene 2"	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.411+1C>A	15.37:g.89018469C>A			B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	pfam_Ribosomal_S11	p.A137E	ENST00000325844.4	37	c.410	CCDS10342.1	15	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029095	0.35797	.	.	ENSG00000181991	ENST00000325844;ENST00000353598	T;T	0.30182	1.54;1.6	5.31	-0.0101	0.13998	.	0.168173	0.50627	D	0.000103	T	0.26268	0.0641	N	0.25245	0.725	0.09310	N	0.999999	D;D;D	0.71674	0.997;0.997;0.998	P;D;P	0.63597	0.842;0.916;0.902	T	0.16808	-1.0390	10	0.19590	T	0.45	-2.8803	2.3602	0.04305	0.1214:0.4751:0.1187:0.2848	.	136;104;137	P82912-2;P82912-3;P82912	.;.;RT11_HUMAN	E	137;104	ENSP00000317376:A137E;ENSP00000318054:A104E	ENSP00000317376:A137E	A	+	2	0	MRPS11	86819473	0.960000	0.32886	0.000000	0.03702	0.047000	0.14425	0.659000	0.24994	-0.021000	0.14009	0.655000	0.94253	GCG	MRPS11	-	pfam_Ribosomal_S11	ENSG00000181991		0.522	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS11	HGNC	protein_coding	OTTHUMT00000309067.2	-	0	44	0	C	NM_022839	Missense_Mutation	89018469	1	tier1	-	no_errors	ENST00000325844	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.005	A	A	89018469	C	A	89018469	5	1	47	1	0	0	0	0	0	0	1	0	9860	782	27	2	424	2	MRPS11	15	89018469	Splice_Site	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	14383114	89018469	13512923	158	11483											
LYSMD4	145748	genome.wustl.edu	37	chr15	100272100	100272100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcagaagagtccccCgagtccccactgccattctt	7	12	6	16	1	4	2	1	0	3	2	6	3	6	2	5	0	1	0	5	0	1	4	rs370472215		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr15:100272100C>T	ENST00000409796.1	-	2	167	c.105G>A	c.(103-105)tcG>tcA	p.S35S	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000545021.1_5'UTR|LYSMD4_ENST00000332728.4_Silent_p.S35S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.R6Q	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	35						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			AAGAGTCCCCCGAGTCCCCAC	0.597																																																	0								C	GLN/ARG	0,4406		0,0,2203	24	26	25		17	-9.8	0.1	15		25	1,8599		0,1,4299	no	missense	LYSMD4	NM_152449.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	6/298	100272100	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.105G>A	15.37:g.100272100C>T			A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	NULL	p.R6Q	ENST00000409796.1	37	c.17		15	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071277	0.76301	0.0	1.16E-4	ENSG00000183060	ENST00000344791;ENST00000450512	T	0.35048	1.33	4.92	-9.84	0.00479	.	2.923490	0.01690	N	0.026622	T	0.14227	0.0344	N	0.08118	0	0.37458	D	0.915106	B	0.20261	0.043	B	0.14578	0.011	T	0.22347	-1.0219	10	0.87932	D	0	-5.7169	0.0925	0.00041	0.3169:0.2026:0.2203:0.2602	.	6	Q5XG99-2	.	Q	6	ENSP00000342840:R6Q	ENSP00000342840:R6Q	R	-	2	0	LYSMD4	98089623	0.000000	0.05858	0.051000	0.19133	0.881000	0.50899	-7.229000	0.00041	-2.979000	0.00283	-0.176000	0.13171	CGG	LYSMD4	-	NULL	ENSG00000183060		0.597	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	LYSMD4	HGNC	protein_coding	OTTHUMT00000335634.1	-	0	81	0	C	NM_152449		100272100	-1	tier1	-	no_errors	ENST00000344791	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.017	T	T	100272100	C	T	100272100	2	4	47	1	0	0	0	0	0	0	0	1	9163	652	23	1		1	LYSMD4	15	100272100	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	11253631	100272100	2259292	159	11484											
ZNF205	7755	genome.wustl.edu	37	chr16	3165551	3165551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctctaaggagaaagctCtcttcctgcctggcggaggt	8	9	13	11	2	2	1	0	0	2	1	4	3	3	2	2	5	2	2	2	5	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:3165551C>A	ENST00000382192.3	+	3	458	c.253C>A	c.(253-255)Ctc>Atc	p.L85I	RP11-473M20.14_ENST00000576490.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.L85I|RP11-473M20.14_ENST00000575139.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	85					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GGAGAAAGCTCTCTTCCTGCC	0.667																																																	0													33	31	31					16																	3165551		2197	4300	6497	SO:0001583	missense	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.253C>A	16.37:g.3165551C>A	ENSP00000371627:p.Leu85Ile		A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L85I	ENST00000382192.3	37	c.253	CCDS10494.2	16	.	.	.	.	.	.	.	.	.	.	C	9.085	1.000199	0.19121	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000444510;ENST00000414351	T;T;T;T	0.48201	3.13;3.13;0.82;3.08	4.74	2.74	0.32292	.	1.802300	0.03240	N	0.180324	T	0.45296	0.1335	L	0.56769	1.78	0.09310	N	1	B	0.29432	0.244	B	0.22152	0.038	T	0.24657	-1.0154	10	0.33940	T	0.23	0.5511	7.9422	0.29965	0.0:0.8029:0.0:0.1971	.	85	O95201	ZN205_HUMAN	I	85	ENSP00000371627:L85I;ENSP00000219091:L85I;ENSP00000394360:L85I;ENSP00000403306:L85I	ENSP00000219091:L85I	L	+	1	0	ZNF205	3105552	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.314000	0.19432	0.533000	0.28675	0.591000	0.81541	CTC	ZNF205	-	NULL	ENSG00000122386		0.667	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	-	0	69	0	C	NM_003456		3165551	1	tier1	-	no_errors	ENST00000219091	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.001	A	A	3165551	C	A	3165551	3	1	47	1	0	0	0	0	1	0	0	0	17812	913	32	3	259	3	ZNF205	16	3165551	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09		3165551	87189202	160	11485											
NLRC3	197358	genome.wustl.edu	37	chr16	3613868	3613868	+	RNA	DEL	G	G	-																															agagctcgcacagggtcctcGggggccacagctctgcatcc																										TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:3613868delG	ENST00000301749.7	-	0	1475				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGGTCCTCGGGGGCCACAG	0.672																																																	0													33	37	36					16																	3613868		1976	4144	6120			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613868delG			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.P404fs	ENST00000301749.7	37	c.1211		16																																																																																			NLRC3	-	NULL	ENSG00000167984		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene			0	24	0	G	NM_178844		3613868	-1	tier1		no_errors	ENST00000448023	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.989	-	-	3613868	G	-	3613868	6	5	47	0	1	1	0	1	0	0	0	0	10507	1116	39	0		0	NLRC3	16	3613868	RNA	DEL	G	TCGA-KH-A6WC-01A-11D-A33E-09	448317	3613868	86740885	161	11486											
BTBD12	84464	genome.wustl.edu	37	chr16	3647636	3647636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcggcctgtggtttcaGagtcctggactaacaacaat	9	12	10	10	1	2	1	1	0	1	1	4	2	3	2	2	3	2	1	2	3	3	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:3647636G>T	ENST00000294008.3	-	7	2067	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	476	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TGTGGTTTCAGAGTCCTGGAC	0.522								Direct reversal of damage																																									0													72	81	78					16																	3647636		2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.1427C>A	16.37:g.3647636G>T	ENSP00000294008:p.Ser476Tyr		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.S476Y	ENST00000294008.3	37	c.1427	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759037	0.49468	.	.	ENSG00000188827	ENST00000294008	T	0.01240	5.12	5.34	2.25	0.28309	.	0.615347	0.15485	N	0.259849	T	0.03783	0.0107	L	0.48642	1.525	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.37979	-0.9682	10	0.87932	D	0	.	8.4463	0.32843	0.1414:0.1263:0.7323:0.0	.	476	Q8IY92	SLX4_HUMAN	Y	476	ENSP00000294008:S476Y	ENSP00000294008:S476Y	S	-	2	0	SLX4	3587637	0.010000	0.17322	0.078000	0.20375	0.526000	0.34562	1.301000	0.33447	0.223000	0.20920	0.655000	0.94253	TCT	SLX4	-	NULL	ENSG00000188827		0.522	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	-	0	89	0	G	NM_032444		3647636	-1	tier1	-	no_errors	ENST00000294008	ensembl	human	known	74_37	missense	8.97	71	7	SNP	0.202	T	T	3647636	G	T	3647636	3	4	47	1	0	0	0	0	1	0	0	0	1544	942	33	3	4113	3	BTBD12	16	3647636	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	33768	3647636	86707117	162	11487											
PPL	5493	genome.wustl.edu	37	chr16	4935090	4935090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctccaggcggaggttcGccacttcactttccgccttg	6	10	10	15	3	1	0	1	0	0	0	4	1	3	1	4	3	1	2	4	3	1	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:4935090G>T	ENST00000345988.2	-	22	3655	c.3566C>A	c.(3565-3567)gCg>gAg	p.A1189E	PPL_ENST00000590782.2_Missense_Mutation_p.A1187E	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1189					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A1189V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGGAGGTTCGCCACTTCACT	0.632																																																	1	Substitution - Missense(1)	endometrium(1)											84	77	79					16																	4935090		2197	4300	6497	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3566C>A	16.37:g.4935090G>T	ENSP00000340510:p.Ala1189Glu		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.A1189E	ENST00000345988.2	37	c.3566	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582875	0.65992	.	.	ENSG00000118898	ENST00000345988	T	0.54479	0.57	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.71281	0.3321	M	0.65975	2.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.64968	-0.6282	10	0.23891	T	0.37	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1189	O60437	PEPL_HUMAN	E	1189	ENSP00000340510:A1189E	ENSP00000340510:A1189E	A	-	2	0	PPL	4875091	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	9.827000	0.99397	2.677000	0.91161	0.561000	0.74099	GCG	PPL	-	NULL	ENSG00000118898		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1		0	18	0	G	NM_002705		4935090	-1			no_errors	ENST00000345988	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	4935090	G	T	4935090	3	4	47	1	0	0	0	0	1	0	0	0	12376	1087	38	2	1708	2	PPL	16	4935090	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1287454	4935090	85419663	163	11488											
C16orf72	29035	genome.wustl.edu	37	chr16	9210601	9210601	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatgtaagcagtggatcGaatgctagtcgaaggagaaa	16	7	12	6	2	0	1	0	0	0	1	2	5	0	2	0	2	2	3	0	2	5	2	rs372524467		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:9210601G>T	ENST00000327827.7	+	4	1057	c.660G>T	c.(658-660)tcG>tcT	p.S220S		NM_014117.2	NP_054836.2	Q14CZ0	CP072_HUMAN	chromosome 16 open reading frame 72	220										endometrium(4)|large_intestine(2)|lung(2)	8						GCAGTGGATCGAATGCTAGTC	0.443																																																	0													188	170	176					16																	9210601		2197	4300	6497	SO:0001819	synonymous_variant	0			AK123266	CCDS10538.1	16p13.2	2012-11-19			ENSG00000182831	ENSG00000182831			30103	protein-coding gene	gene with protein product						8889548	Standard	NM_014117		Approved	FLJ41272, PRO0149	uc002czm.3	Q14CZ0	OTTHUMG00000178147	ENST00000327827.7:c.660G>T	16.37:g.9210601G>T				Silent	SNP	NULL	p.S220	ENST00000327827.7	37	c.660	CCDS10538.1	16																																																																																			C16orf72	-	NULL	ENSG00000182831		0.443	C16orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf72	HGNC	protein_coding	OTTHUMT00000440760.2	-	0	71	0	G	NM_014117		9210601	1	tier1	-	no_errors	ENST00000327827	ensembl	human	known	74_37	silent	6.33	74	5	SNP	1.000	T	T	9210601	G	T	9210601	2	4	47	1	0	0	0	0	0	0	0	1	1836	1045	37	2		2	C16orf72	16	9210601	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4275511	9210601	81144152	164	11489											
CIITA	4261	genome.wustl.edu	37	chr16	11004059	11004059	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggacgagaagttcctCggaagacacagctggggagc	11	5	14	11	2	0	2	0	0	0	2	3	6	2	5	2	4	2	2	2	4	2	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:11004059C>A	ENST00000324288.8	+	13	2964	c.2831C>A	c.(2830-2832)tCg>tAg	p.S944*	CIITA_ENST00000381835.5_Nonsense_Mutation_p.S360*|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	944			Missing (in BLS2). {ECO:0000269|PubMed:8402893}.		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.S944W(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGAAGTTCCTCGGAAGACACA	0.567			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "																																			Dom	yes		16	16p13	4261	"class II, major histocompatibility complex, transactivator"		L	1	Substitution - Missense(1)	lung(1)											74	57	63					16																	11004059		2197	4300	6497	SO:0001587	stop_gained	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"Nucleotide-binding domain and leucine rich repeat containing"	7067	protein-coding gene	gene with protein product	"NLR family, acid domain containing", "nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"	600005	"MHC class II transactivator"	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2831C>A	16.37:g.11004059C>A	ENSP00000316328:p.Ser944*		A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.S944*	ENST00000324288.8	37	c.2831	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.682195	0.96774	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	.	.	.	4.83	3.8	0.43715	.	0.708561	0.12244	N	0.486271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	9.8368	0.40973	0.2044:0.7956:0.0:0.0	.	.	.	.	X	944;360	.	ENSP00000316328:S944X	S	+	2	0	CIITA	10911560	0.028000	0.19301	0.093000	0.20910	0.831000	0.47069	1.382000	0.34374	2.391000	0.81399	0.561000	0.74099	TCG	CIITA	-	NULL	ENSG00000179583		0.567	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2		0	43	0	C	NM_000246		11004059	1			no_errors	ENST00000324288	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.004	A	A	11004059	C	A	11004059	4	1	47	1	0	0	0	0	0	1	0	0	3435	893	31	2	2881	2	CIITA	16	11004059	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	1793458	11004059	79350694	165	11490											
CCDC113	29070	genome.wustl.edu	37	chr16	58286746	58286746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattaaaatatcagcagcaGattatgcacaggtacacaat	19	9	6	7	0	1	1	1	0	0	1	1	1	1	1	0	1	4	4	0	1	7	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:58286746G>T	ENST00000219299.4	+	2	296	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	CCDC113_ENST00000443128.2_Missense_Mutation_p.D73Y	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	73						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATCAGCAGCAGATTATGCACA	0.403																																																	0													138	126	130					16																	58286746		2198	4300	6498	SO:0001583	missense	0			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.217G>T	16.37:g.58286746G>T	ENSP00000219299:p.Asp73Tyr		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	NULL	p.D73Y	ENST00000219299.4	37	c.217	CCDS10795.1	16	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558765	0.65538	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.37058	1.22;1.39	5.01	5.01	0.66863	.	0.696070	0.12830	N	0.435675	T	0.44932	0.1317	L	0.34521	1.04	0.09310	N	0.999995	D;D	0.69078	0.979;0.997	P;P	0.57371	0.819;0.819	T	0.34403	-0.9830	10	0.66056	D	0.02	-6.2625	13.8237	0.63338	0.0:0.0:1.0:0.0	.	73;73	B4DR20;Q9H0I3	.;CC113_HUMAN	Y	73	ENSP00000402588:D73Y;ENSP00000219299:D73Y	ENSP00000219299:D73Y	D	+	1	0	CCDC113	56844247	0.992000	0.36948	0.118000	0.21660	0.184000	0.23303	4.604000	0.61112	2.318000	0.78349	0.563000	0.77884	GAT	CCDC113	-	NULL	ENSG00000103021		0.403	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC113	HGNC	protein_coding	OTTHUMT00000257387.2	-	0	42	0	G	NM_014157		58286746	1	tier1	-	no_errors	ENST00000219299	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.218	T	T	58286746	G	T	58286746	3	4	47	1	0	0	0	0	1	0	0	0	2757	942	33	3	223	3	CCDC113	16	58286746	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	47282687	58286746	32068007	166	11491											
PLA2G15	23659	genome.wustl.edu	37	chr16	68289243	68289243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggctacacacggggtgaGgatgtccgaggggctcccta	7	7	17	10	2	0	1	0	1	0	0	2	3	2	2	2	7	1	2	2	7	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr16:68289243G>T	ENST00000219345.5	+	4	545	c.462G>T	c.(460-462)gaG>gaT	p.E154D	PLA2G15_ENST00000413021.2_Missense_Mutation_p.R102M|RP11-96D1.7_ENST00000569843.1_RNA|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000566188.1_Missense_Mutation_p.E154D	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	154					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CACGGGGTGAGGATGTCCGAG	0.557																																																	0													59	59	59					16																	68289243		2198	4300	6498	SO:0001583	missense	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.462G>T	16.37:g.68289243G>T	ENSP00000219345:p.Glu154Asp		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.E154D	ENST00000219345.5	37	c.462	CCDS10864.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.072786|2.072786	0.36566|0.36566	.|.	.|.	ENSG00000103066|ENSG00000103066	ENST00000219345|ENST00000413021	D|D	0.95724|0.96491	-3.79|-4.03	5.2|5.2	1.76|1.76	0.24704|0.24704	.|.	0.283649|.	0.43747|.	D|.	0.000527|.	D|D	0.90930|0.90930	0.7149|0.7149	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	B;B|B	0.16802|0.14438	0.019;0.001|0.01	B;B|B	0.17433|0.14023	0.018;0.007|0.01	D|D	0.85355|0.85355	0.1104|0.1104	10|9	0.16420|0.56958	T|D	0.52|0.05	-32.2876|-32.2876	6.1409|6.1409	0.20259|0.20259	0.652:0.0:0.348:0.0|0.652:0.0:0.348:0.0	.|.	154;154|102	B4DJW4;Q8NCC3|B4DUD1	.;PAG15_HUMAN|.	D|M	154|102	ENSP00000219345:E154D|ENSP00000394197:R102M	ENSP00000219345:E154D|ENSP00000394197:R102M	E|R	+|+	3|2	2|0	PLA2G15|PLA2G15	66846744|66846744	0.988000|0.988000	0.35896|0.35896	0.981000|0.981000	0.43875|0.43875	0.995000|0.995000	0.86356|0.86356	0.294000|0.294000	0.19047|0.19047	0.631000|0.631000	0.30412|0.30412	0.655000|0.655000	0.94253|0.94253	GAG|AGG	PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.557	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2	-	0	69	0	G	NM_012320		68289243	1	tier1	-	no_errors	ENST00000219345	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.997	T	T	68289243	G	T	68289243	3	4	47	1	0	0	0	0	1	0	0	0	12031	991	35	3	476	3	PLA2G15	16	68289243	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	10002497	68289243	22065510	167	11492											
C17orf85	55421	genome.wustl.edu	37	chr17	3721643	3721643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgtggaaatcattttCagttctagatcatagtccat	12	13	9	7	1	4	1	3	0	1	1	5	3	5	2	1	2	0	1	1	2	4	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:3721643C>A	ENST00000389005.4	-	10	1251	c.1224G>T	c.(1222-1224)ctG>ctT	p.L408L	C17orf85_ENST00000158149.3_Silent_p.L128L	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	408							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L128L(1)|p.L408L(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AAATCATTTTCAGTTCTAGAT	0.453																																																	2	Substitution - coding silent(2)	endometrium(2)											95	93	93					17																	3721643		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1224G>T	17.37:g.3721643C>A			B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	pfam_DUF2414	p.L408	ENST00000389005.4	37	c.1224	CCDS45578.1	17																																																																																			C17orf85	-	NULL	ENSG00000074356		0.453	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1		0	46	0	C	NM_018553		3721643	-1			no_errors	ENST00000389005	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	A	A	3721643	C	A	3721643	2	1	47	1	0	0	0	0	0	0	0	1	1894	813	29	3		3	C17orf85	17	3721643	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09		3721643	77473567	168	11493											
MYH3	4621	genome.wustl.edu	37	chr17	10543029	10543029	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcatcttcagctctctCtgtcacctccttgatcttgg	4	16	5	16	0	7	1	3	1	4	0	10	1	9	1	3	1	1	1	3	1	0	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:10543029C>A	ENST00000583535.1	-	23	2860	c.2773G>T	c.(2773-2775)Gag>Tag	p.E925*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E925*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	925					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCAGCTCTCTCTGTCACCTCC	0.458																																																	0													255	240	245					17																	10543029		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2773G>T	17.37:g.10543029C>A	ENSP00000464317:p.Glu925*		Q15492	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E925*	ENST00000583535.1	37	c.2773	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	C	39	7.495534	0.98319	.	.	ENSG00000109063	ENST00000226209	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1617	0.93535	0.0:1.0:0.0:0.0	.	.	.	.	X	925	.	ENSP00000226209:E925X	E	-	1	0	MYH3	10483754	1.000000	0.71417	0.953000	0.39169	0.533000	0.34776	7.814000	0.86154	2.581000	0.87130	0.655000	0.94253	GAG	MYH3	-	NULL	ENSG00000109063		0.458	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	63	0	C	NM_002470		10543029	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	A	A	10543029	C	A	10543029	4	1	47	1	0	0	0	0	0	1	0	0	10074	922	32	3	3125	3	MYH3	17	10543029	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	6821386	10543029	70652181	169	11494											
ALDOC	230	genome.wustl.edu	37	chr17	26901148	26901148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccatggcaatctcctctgGggtatacttgatgggacagg	8	11	13	9	0	2	1	0	1	2	0	3	2	2	2	2	5	2	2	2	5	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:26901148G>T	ENST00000226253.4	-	7	1211	c.736C>A	c.(736-738)Cca>Aca	p.P246T	ALDOC_ENST00000395321.2_Missense_Mutation_p.P246T|PIGS_ENST00000308360.7_5'Flank|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.P218T|PIGS_ENST00000543734.1_5'Flank|PIGS_ENST00000395346.2_5'Flank	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	246					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					ATCTCCTCTGGGGTATACTTG	0.587																																																	0													155	158	157					17																	26901148		2203	4300	6503	SO:0001583	missense	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.736C>A	17.37:g.26901148G>T	ENSP00000226253:p.Pro246Thr		B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.P246T	ENST00000226253.4	37	c.736	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196373	0.38806	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321	D;D;D	0.86627	-2.15;-2.15;-2.15	5.58	3.48	0.39840	Aldolase-type TIM barrel (1);	0.288128	0.40064	N	0.001195	D	0.84428	0.5470	M	0.62723	1.935	0.52501	D	0.999952	B;B	0.25390	0.066;0.125	B;B	0.29353	0.099;0.101	T	0.83200	-0.0079	10	0.72032	D	0.01	-2.8769	9.3949	0.38397	0.0742:0.2602:0.6657:0.0	.	218;246	A8MVZ9;P09972	.;ALDOC_HUMAN	T	218;246;246	ENSP00000378729:P218T;ENSP00000226253:P246T;ENSP00000378731:P246T	ENSP00000226253:P246T	P	-	1	0	ALDOC	23925275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.475000	0.45162	1.367000	0.46095	0.555000	0.69702	CCA	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.587	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0	51	0	G			26901148	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.999	T	T	26901148	G	T	26901148	3	4	47	1	0	0	0	0	1	0	0	0	509	1232	43	3	370	3	ALDOC	17	26901148	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	16358119	26901148	54294062	170	11495											
FLOT2	2319	genome.wustl.edu	37	chr17	27208318	27208318	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccttgcccatcgcctcGatgactgccgcttccgcctc	3	11	8	19	4	1	1	0	1	1	0	5	2	2	1	6	0	3	1	6	0	0	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:27208318G>T	ENST00000394908.4	-	9	1094	c.990C>A	c.(988-990)atC>atA	p.I330I	FLOT2_ENST00000394906.2_Silent_p.I385I|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.I330I	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	330					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCATCGCCTCGATGACTGCCG	0.612																																																	0													71	75	74					17																	27208318		2095	4217	6312	SO:0001819	synonymous_variant	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.990C>A	17.37:g.27208318G>T				Silent	SNP	pfam_Band_7,smart_Band_7	p.I330	ENST00000394908.4	37	c.990	CCDS11245.2	17																																																																																			FLOT2	-	NULL	ENSG00000132589		0.612	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3		0	25	0	G	NM_004475		27208318	-1			no_errors	ENST00000394908	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.927	T	T	27208318	G	T	27208318	2	4	47	1	0	0	0	0	0	0	0	1	5959	1048	37	2		2	FLOT2	17	27208318	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	307170	27208318	53986892	171	11496											
SSH2	85464	genome.wustl.edu	37	chr17	27963457	27963457	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attaaggctttggatgcatgGcaattgtcaagaggaaattt	13	13	11	4	0	1	1	1	0	0	1	1	3	1	3	0	4	1	3	0	4	4	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:27963457G>T	ENST00000269033.3	-	14	1861	c.1710C>A	c.(1708-1710)tgC>tgA	p.C570*	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.C597*	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	570					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGATGCATGGCAATTGTCAA	0.408																																																	0													101	94	96					17																	27963457		2203	4300	6503	SO:0001587	stop_gained	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1710C>A	17.37:g.27963457G>T	ENSP00000269033:p.Cys570*		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.C570*	ENST00000269033.3	37	c.1710	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.250140	0.97412	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	.	.	.	6.16	6.16	0.99307	.	0.406531	0.27613	N	0.018595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5001	11.0431	0.47842	0.1367:0.0:0.8633:0.0	.	.	.	.	X	570;597	.	ENSP00000269033:C570X	C	-	3	2	SSH2	24987583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.043000	0.57354	2.937000	0.99478	0.650000	0.86243	TGC	SSH2	-	NULL	ENSG00000141298		0.408	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1		0	59	0	G	NM_033389		27963457	-1			no_errors	ENST00000269033	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	1.000	T	T	27963457	G	T	27963457	4	4	47	1	0	0	0	0	0	1	0	0	15232	1195	42	3	2569	3	SSH2	17	27963457	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	755139	27963457	53231753	172	11497											
CCDC55	84081	genome.wustl.edu	37	chr17	28511766	28511766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcagacagtgacttcGatgctaagagcagtgcggat	12	8	13	8	2	0	4	0	1	0	3	1	6	0	5	0	1	4	3	0	1	1	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:28511766G>T	ENST00000247026.5	+	7	814	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	251					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAGTGACTTCGATGCTAAGAG	0.418																																																	0													76	71	73					17																	28511766		2203	4300	6503	SO:0001583	missense	0			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.751G>T	17.37:g.28511766G>T	ENSP00000247026:p.Asp251Tyr		Q6FI71	Missense_Mutation	SNP	pfam_DUF2040	p.D251Y	ENST00000247026.5	37	c.751	CCDS11255.1	17	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020811	0.54576	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.51071	0.72	5.97	5.97	0.96955	.	0.399046	0.29280	N	0.012608	T	0.50684	0.1630	L	0.56769	1.78	0.80722	D	1	P	0.43169	0.8	B	0.41946	0.371	T	0.54063	-0.8349	10	0.66056	D	0.02	-7.5625	17.5657	0.87919	0.0:0.0:1.0:0.0	.	251	Q9H0G5	NSRP1_HUMAN	Y	251;182;197	ENSP00000247026:D251Y	ENSP00000247026:D251Y	D	+	1	0	NSRP1	25535892	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	3.131000	0.50515	2.828000	0.97474	0.650000	0.86243	GAT	NSRP1	-	NULL	ENSG00000126653		0.418	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2		0	54	0	G	NM_032141		28511766	1			no_errors	ENST00000247026	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.994	T	T	28511766	G	T	28511766	3	4	47	1	0	0	0	0	1	0	0	0	2832	1058	37	2	777	2	CCDC55	17	28511766	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	548309	28511766	52683444	173	11498											
TMEM132E	124842	genome.wustl.edu	37	chr17	32964404	32964404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaccatcgctgagagctGccagaaaaccaaacgcaaga	16	4	9	12	2	0	3	0	1	0	3	1	4	0	3	3	0	5	4	3	0	5	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:32964404G>A	ENST00000321639.5	+	10	2436	c.2108G>A	c.(2107-2109)tGc>tAc	p.C703Y		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	703						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCTGAGAGCTGCCAGAAAACC	0.647																																																	0													56	60	59					17																	32964404		2203	4300	6503	SO:0001583	missense	0			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2108G>A	17.37:g.32964404G>A	ENSP00000316532:p.Cys703Tyr		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	NULL	p.C703Y	ENST00000321639.5	37	c.2108	CCDS11283.1	17	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506877	0.64410	.	.	ENSG00000181291	ENST00000321639	T	0.17528	2.27	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.48874	0.1524	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57573	-0.7788	10	0.87932	D	0	-29.8441	17.2291	0.86979	0.0:0.0:1.0:0.0	.	703	Q6IEE7	T132E_HUMAN	Y	703	ENSP00000316532:C703Y	ENSP00000316532:C703Y	C	+	2	0	TMEM132E	29988517	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	9.657000	0.98554	2.538000	0.85594	0.643000	0.83706	TGC	TMEM132E	-	NULL	ENSG00000181291		0.647	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	-	0	55	0	G	NM_207313		32964404	1	tier1	-	no_errors	ENST00000321639	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	32964404	G	A	32964404	3	1	47	1	0	0	0	0	1	0	0	0	16095	1319	46	3	2146	3	TMEM132E	17	32964404	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4452638	32964404	48230806	174	11499											
CDC6	990	genome.wustl.edu	37	chr17	38447798	38447798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccagggaaagggagatgGatgtcatcaggaatttcttg	11	10	14	6	0	3	1	2	0	1	1	3	5	3	4	1	4	1	0	1	4	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:38447798G>T	ENST00000209728.4	+	4	1009	c.538G>T	c.(538-540)Gat>Tat	p.D180Y		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	180					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AAGGGAGATGGATGTCATCAG	0.502																																																	0													97	103	101					17																	38447798		2203	4300	6503	SO:0001583	missense	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.538G>T	17.37:g.38447798G>T	ENSP00000209728:p.Asp180Tyr		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.D180Y	ENST00000209728.4	37	c.538	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200785	0.58234	.	.	ENSG00000094804	ENST00000209728	T	0.58210	0.35	5.86	2.51	0.30379	.	0.461178	0.25078	N	0.033304	T	0.47377	0.1442	L	0.54323	1.7	0.29186	N	0.876179	P	0.38767	0.646	B	0.39876	0.312	T	0.45512	-0.9256	10	0.52906	T	0.07	-0.5563	9.872	0.41180	0.2492:0.0:0.7508:0.0	.	180	Q99741	CDC6_HUMAN	Y	180	ENSP00000209728:D180Y	ENSP00000209728:D180Y	D	+	1	0	CDC6	35701324	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.745000	0.47459	0.334000	0.23590	-0.781000	0.03364	GAT	CDC6	-	superfamily_P-loop_NTPase,pirsf_Cell_div_Cdc6/18	ENSG00000094804		0.502	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	-	0	38	0	G			38447798	1	tier1	-	no_errors	ENST00000209728	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	38447798	G	T	38447798	3	4	47	1	0	0	0	0	1	0	0	0	3090	1174	41	3	548	3	CDC6	17	38447798	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	5483394	38447798	42747412	175	11500											
BRCA1	672	genome.wustl.edu	37	chr17	41234517	41234517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagaaggctggctcccatGctgttctaacacagcttcta	9	12	9	11	0	2	1	0	0	2	1	3	1	3	1	1	2	3	6	1	2	4	5	rs80357013		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:41234517G>T	ENST00000357654.3	-	12	4379	c.4261C>A	c.(4261-4263)Cat>Aat	p.H1421N	BRCA1_ENST00000351666.3_Missense_Mutation_p.H238N|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.H1421N|BRCA1_ENST00000309486.4_Missense_Mutation_p.H1125N|BRCA1_ENST00000352993.3_Missense_Mutation_p.H279N|BRCA1_ENST00000346315.3_Missense_Mutation_p.H1421N|BRCA1_ENST00000471181.2_Missense_Mutation_p.H1421N|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.H1374N|BRCA1_ENST00000468300.1_Missense_Mutation_p.H318N|BRCA1_ENST00000491747.2_Missense_Mutation_p.H318N|BRCA1_ENST00000591534.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1421	Interaction with PALB2.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGCTCCCATGCTGTTCTAAC	0.458			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													187	160	169					17																	41234517		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4261C>A	17.37:g.41234517G>T	ENSP00000350283:p.His1421Asn		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.H1421N	ENST00000357654.3	37	c.4261	CCDS11453.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.60|13.60	2.284952|2.284952	0.40394|0.40394	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825|ENST00000461574	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.55052|.	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54|.	5.5|5.5	4.52|4.52	0.55395|0.55395	.|.	0.355639|.	0.24109|.	N|.	0.041480|.	T|T	0.44030|0.44030	0.1274|0.1274	L|L	0.34521|0.34521	1.04|1.04	0.30157|0.30157	N|N	0.802559|0.802559	B;B;B;B;B;B;B;B|.	0.33413|.	0.028;0.002;0.028;0.411;0.028;0.012;0.167;0.021|.	B;B;B;B;B;B;B;B|.	0.25987|.	0.018;0.002;0.01;0.065;0.014;0.012;0.045;0.027|.	T|T	0.43442|0.43442	-0.9391|-0.9391	10|5	0.87932|.	D|.	0|.	-0.1004|-0.1004	12.712|12.712	0.57094|0.57094	0.0:0.0:0.7043:0.2957|0.0:0.0:0.7043:0.2957	.|.	317;271;317;318;318;1421;1421;1421|.	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2|.	.;.;.;.;.;.;BRCA1_HUMAN;.|.	N|R	1421;1421;1421;279;1421;238;1125;318;271;1421;1374;317;317;192;271;193|185	ENSP00000350283:H1421N;ENSP00000326002:H1421N;ENSP00000312236:H279N;ENSP00000246907:H1421N;ENSP00000338007:H238N;ENSP00000310938:H1125N;ENSP00000417148:H318N;ENSP00000377294:H271N;ENSP00000418960:H1421N;ENSP00000418775:H1374N;ENSP00000420412:H317N;ENSP00000419481:H192N;ENSP00000418819:H271N;ENSP00000418212:H193N|.	ENSP00000310938:H1125N|.	H|S	-|-	1|3	0|2	BRCA1|BRCA1	38488043|38488043	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.822000|0.822000	0.46500|0.46500	3.231000|3.231000	0.51294|0.51294	1.526000|1.526000	0.49068|0.49068	0.655000|0.655000	0.94253|0.94253	CAT|AGC	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.458	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0	83	0	G	NM_007294		41234517	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.982	T	T	41234517	G	T	41234517	3	4	47	1	0	0	0	0	1	0	0	0	1502	1319	46	3	1448	3	BRCA1	17	41234517	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2786719	41234517	39960693	176	11501											
TMEM106A	113277	genome.wustl.edu	37	chr17	41365224	41365224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggaactgctgatgccaGcttcgtgacttgtcccacct	8	11	10	12	1	0	3	0	3	0	0	2	4	1	4	3	1	4	2	3	1	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:41365224G>T	ENST00000331615.3	+	3	401	c.164G>T	c.(163-165)aGc>aTc	p.S55I	TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.S55I|TMEM106A_ENST00000536052.1_Missense_Mutation_p.S55I|TMEM106A_ENST00000541594.1_Missense_Mutation_p.S7I	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	55						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCTGATGCCAGCTTCGTGACT	0.542																																																	0													138	125	129					17																	41365224		2203	4296	6499	SO:0001583	missense	0			AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.164G>T	17.37:g.41365224G>T	ENSP00000330774:p.Ser55Ile		A8K2X2|B7Z698	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.S55I	ENST00000331615.3	37	c.164	CCDS11462.1	17	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106348	0.56291	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.22945	1.93;1.93;1.93	5.17	3.15	0.36227	.	0.843930	0.10899	N	0.621842	T	0.36496	0.0969	L	0.57536	1.79	0.27406	N	0.954706	P;P;P	0.45396	0.748;0.857;0.857	B;P;P	0.52514	0.351;0.505;0.701	T	0.17745	-1.0359	10	0.87932	D	0	-25.9335	7.429	0.27115	0.2558:0.0:0.7442:0.0	.	55;7;55	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	I	55;55;7	ENSP00000330774:S55I;ENSP00000439835:S55I;ENSP00000439844:S7I	ENSP00000330774:S55I	S	+	2	0	TMEM106A	38720750	0.962000	0.33011	0.840000	0.33206	0.657000	0.38888	1.563000	0.36364	1.414000	0.47017	0.655000	0.94253	AGC	TMEM106A	-	pfam_DUF1356_TMEM106	ENSG00000184988		0.542	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106A	HGNC	protein_coding	OTTHUMT00000453470.2	-	0	54	0	G	NM_145041		41365224	1	tier1	-	no_errors	ENST00000331615	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.607	T	T	41365224	G	T	41365224	3	4	47	1	0	0	0	0	1	0	0	0	16067	971	34	3	166	3	TMEM106A	17	41365224	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	130707	41365224	39829986	177	11502											
NAGS	162417	genome.wustl.edu	37	chr17	42084768	42084768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaccagggccgtctaGtggacctggtcaacgccagc	8	6	14	13	2	2	0	1	0	1	0	2	2	2	2	4	4	3	1	4	4	2	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:42084768G>T	ENST00000293404.3	+	5	1292	c.1174G>T	c.(1174-1176)Gtg>Ttg	p.V392L	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	392	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGCCGTCTAGTGGACCTGGT	0.657											OREG0024449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37	40	39					17																	42084768		2199	4297	6496	SO:0001583	missense	0			AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.1174G>T	17.37:g.42084768G>T	ENSP00000293404:p.Val392Leu	906	B2RAZ9|Q8IWR4	Missense_Mutation	SNP	pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	p.V392L	ENST00000293404.3	37	c.1174	CCDS11473.1	17	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193061	0.38707	.	.	ENSG00000161653	ENST00000541745;ENST00000293404	D	0.94046	-3.34	5.56	4.59	0.56863	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);Domain of unknown function DUF619 (1);	0.080661	0.50627	D	0.000114	D	0.86548	0.5959	L	0.27975	0.815	0.34343	D	0.688998	B;B	0.28667	0.219;0.219	B;B	0.31946	0.138;0.138	T	0.83078	-0.0139	10	0.07644	T	0.81	-32.1052	11.4464	0.50125	0.0869:0.0:0.9131:0.0	.	226;392	Q2NKP2;Q8N159	.;NAGS_HUMAN	L	226;392	ENSP00000293404:V392L	ENSP00000293404:V392L	V	+	1	0	NAGS	39440294	1.000000	0.71417	0.978000	0.43139	0.732000	0.41865	2.979000	0.49313	2.623000	0.88846	0.561000	0.74099	GTG	NAGS	-	pfam_DUF619,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom	ENSG00000161653		0.657	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGS	HGNC	protein_coding	OTTHUMT00000457660.1		0	76	0	G	NM_153006		42084768	1			no_errors	ENST00000293404	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.995	T	T	42084768	G	T	42084768	3	4	47	1	0	0	0	0	1	0	0	0	10183	1029	36	3	1192	3	NAGS	17	42084768	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	719544	42084768	39110442	178	11503											
FZD2	2535	genome.wustl.edu	37	chr17	42636367	42636367	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggccggcttcgtgtcGctcttccgcatccgcaccat	3	11	9	18	5	1	0	0	0	1	0	6	0	4	0	5	2	0	4	5	2	0	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:42636367G>T	ENST00000315323.3	+	1	1443	c.1311G>T	c.(1309-1311)tcG>tcT	p.S437S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	437					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTTCGTGTCGCTCTTCCGCA	0.627																																																	0													106	96	99					17																	42636367		2203	4300	6503	SO:0001819	synonymous_variant	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1311G>T	17.37:g.42636367G>T			Q0VG82	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S437	ENST00000315323.3	37	c.1311	CCDS11484.1	17																																																																																			FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000180340		0.627	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1		0	12	0	G	NM_001466		42636367	1			no_errors	ENST00000315323	ensembl	human	known	74_37	silent	16.00	20	4	SNP	0.802	T	T	42636367	G	T	42636367	2	4	47	1	0	0	0	0	0	0	0	1	6154	1074	38	2		2	FZD2	17	42636367	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	551599	42636367	38558843	179	11504											
ANKFN1	162282	genome.wustl.edu	37	chr17	54450138	54450138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacagagaaagagaagcagCtgaaagcttgggagtggagg	16	4	16	5	0	0	3	0	1	0	2	0	7	0	5	0	3	3	3	0	3	3	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:54450138C>A	ENST00000318698.2	+	6	777	c.742C>A	c.(742-744)Ctg>Atg	p.L248M	ANKFN1_ENST00000566473.2_Missense_Mutation_p.L248M	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	248										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AGAGAAGCAGCTGAAAGCTTG	0.493																																																	0													175	155	162					17																	54450138		2203	4300	6503	SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.742C>A	17.37:g.54450138C>A	ENSP00000321627:p.Leu248Met			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.L248M	ENST00000318698.2	37	c.742	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457977	0.43634	.	.	ENSG00000153930	ENST00000318698	T	0.27720	1.65	5.78	3.43	0.39272	.	0.064517	0.64402	D	0.000006	T	0.53626	0.1808	M	0.77103	2.36	0.46678	D	0.999151	D	0.89917	1.0	D	0.76575	0.988	T	0.58781	-0.7576	10	0.62326	D	0.03	-7.143	11.8209	0.52238	0.1255:0.8018:0.0:0.0727	.	248	Q8N957	ANKF1_HUMAN	M	248	ENSP00000321627:L248M	ENSP00000321627:L248M	L	+	1	2	ANKFN1	51805137	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	4.070000	0.57548	1.422000	0.47177	-0.311000	0.09066	CTG	ANKFN1	-	NULL	ENSG00000153930		0.493	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	-	0	35	0	C	NM_153228		54450138	1	tier1	-	no_errors	ENST00000318698	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	54450138	C	A	54450138	3	1	47	1	0	0	0	0	1	0	0	0	625	796	28	3	764	3	ANKFN1	17	54450138	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	11813771	54450138	26745072	180	11505											
FTSJ3	11325	genome.wustl.edu	37	chr17	61899155	61899155	+	IGR	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtaccagcagtggattCtcctcctcctcctcctcttt	5	14	7	15	0	2	0	0	0	2	0	7	1	6	1	6	2	2	2	6	2	1	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:61899155C>A	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.E508D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCT	0.537																																																	0													231	177	195					17																	61899155		2203	4300	6503	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899155C>A			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.E508D	ENST00000578681.1	37	c.1524	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	C	6.197	0.404559	0.11754	.	.	ENSG00000108592	ENST00000427159	T	0.32753	1.44	3.52	-1.16	0.09678	.	0.123358	0.53938	D	0.000059	T	0.18087	0.0434	L	0.42245	1.32	0.36279	D	0.855689	B	0.06786	0.001	B	0.06405	0.002	T	0.09574	-1.0668	10	0.21540	T	0.41	-19.5406	4.2055	0.10486	0.0:0.3476:0.3284:0.324	.	508	Q8IY81	RRMJ3_HUMAN	D	508	ENSP00000396673:E508D	ENSP00000396673:E508D	E	-	3	2	FTSJ3	59252887	0.665000	0.27466	0.935000	0.37517	0.269000	0.26545	-0.371000	0.07513	-0.077000	0.12752	0.174000	0.16983	GAG	FTSJ3	-	NULL	ENSG00000108592		0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1		0	33	0	C	NM_007372		61899155	-1			no_errors	ENST00000427159	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.886	A	A	61899155	C	A	61899155	1	1	47	0	1	0	0	0	0	0	0	0	6113	912	32	3		3	FTSJ3	17	61899155	IGR	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	7449017	61899155	19296055	181	11506											
SLC16A6	9120	genome.wustl.edu	37	chr17	66267470	66267470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagcggggctttcttttcGcttggcctggggctggtctt	3	15	14	9	2	2	0	0	0	2	0	3	0	2	0	1	6	1	3	1	6	2	6	rs370850876		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:66267470G>T	ENST00000327268.4	-	6	995	c.831C>A	c.(829-831)agC>agA	p.S277R	SLC16A6_ENST00000580666.1_Missense_Mutation_p.S277R|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	277					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTTTCTTTTCGCTTGGCCTGG	0.458																																																	0								G	ARG/SER,ARG/SER,	0,4404		0,0,2202	70	70	70		831,831,	-3.5	0	17		70	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,intron	SLC16A6,ARSG	NM_001174166.1,NM_004694.4,NM_014960.3	110,110,	0,2,6500	TT,TG,GG		0.0233,0.0,0.0154	benign,benign,	277/524,277/524,	66267470	2,13002	2202	4300	6502	SO:0001583	missense	0			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"Solute carriers"	10927	protein-coding gene	gene with protein product		603880	"solute carrier family 16 (monocarboxylic acid transporters), member 6", "solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.831C>A	17.37:g.66267470G>T	ENSP00000319991:p.Ser277Arg		Q6P1X3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S277R	ENST00000327268.4	37	c.831	CCDS11675.1	17	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.406971	0.01155	0.0	2.33E-4	ENSG00000108932	ENST00000327268	T	0.56611	0.45	4.47	-3.55	0.04639	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	3.721230	0.00531	N	0.000210	T	0.45458	0.1343	M	0.61703	1.905	0.09310	N	1	B	0.30605	0.287	B	0.33042	0.157	T	0.10753	-1.0616	10	0.14252	T	0.57	.	3.9137	0.09214	0.162:0.3031:0.4214:0.1135	.	277	O15403	MOT7_HUMAN	R	277	ENSP00000319991:S277R	ENSP00000319991:S277R	S	-	3	2	SLC16A6	63779065	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.149000	0.10204	-0.431000	0.07307	-1.277000	0.01392	AGC	SLC16A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000108932		0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A6	HGNC	protein_coding	OTTHUMT00000448323.1	-	0	70	0	G	NM_004694		66267470	-1	tier1	-	no_errors	ENST00000327268	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	T	T	66267470	G	T	66267470	3	4	47	1	0	0	0	0	1	0	0	0	14457	1078	38	2	748	2	SLC16A6	17	66267470	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4368315	66267470	14927740	182	11507											
FASN	2194	genome.wustl.edu	37	chr17	80039884	80039884	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggagagggtggggcccaCctgggaggccttcgtgccgg	5	5	21	10	2	0	1	0	0	0	1	1	3	0	2	4	8	1	0	4	8	0	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr17:80039884C>G	ENST00000306749.2	-	36	6382		c.e36+1		FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase						acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	gtggggCCCACCTGGGAGGCC	0.687																																					Colon(59;314 1043 11189 28578 32273)												0													42	44	43					17																	80039884		2202	4298	6500	SO:0001630	splice_region_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6163+1G>C	17.37:g.80039884C>G			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	-	e35+1	ENST00000306749.2	37	c.6163+1	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948467	0.53186	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7764	0.78224	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FASN	77633173	0.998000	0.40836	0.998000	0.56505	0.630000	0.37929	5.078000	0.64425	2.148000	0.66965	0.197000	0.17608	.	FASN	-	-	ENSG00000169710		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1		0	61	0	C	NM_004104	Intron	80039884	-1			no_errors	ENST00000306749	ensembl	human	known	74_37	splice_site	5.66	49	3	SNP	1.000	G	G	80039884	C	G	80039884	5	3	47	1	0	0	0	0	0	0	1	0	5705	521	18	5	1403	5	FASN	17	80039884	Splice_Site	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	13772414	80039884	1155326	183	11508											
NDC80	10403	genome.wustl.edu	37	chr18	2616470	2616470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagattgctaaagttgataGagaatatgaagaatgcatgt	16	11	11	3	0	0	5	0	2	0	3	0	6	0	5	0	0	2	4	0	0	7	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr18:2616470G>T	ENST00000261597.4	+	17	2008	c.1826G>T	c.(1825-1827)aGa>aTa	p.R609I		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	609	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AAAGTTGATAGAGAATATGAA	0.274																																																	0													44	47	46					18																	2616470		2200	4285	6485	SO:0001583	missense	0			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.1826G>T	18.37:g.2616470G>T	ENSP00000261597:p.Arg609Ile		Q6PJX2	Missense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.R609I	ENST00000261597.4	37	c.1826	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187211	0.57909	.	.	ENSG00000080986	ENST00000261597	T	0.47177	0.85	5.32	4.43	0.53597	.	0.204155	0.47455	D	0.000239	T	0.52709	0.1751	L	0.56769	1.78	0.50467	D	0.999875	D	0.54397	0.966	P	0.52159	0.691	T	0.52837	-0.8522	10	0.49607	T	0.09	-6.9503	11.0	0.47600	0.1427:0.0:0.8573:0.0	.	609	O14777	NDC80_HUMAN	I	609	ENSP00000261597:R609I	ENSP00000261597:R609I	R	+	2	0	NDC80	2606470	1.000000	0.71417	0.958000	0.39756	0.435000	0.31806	2.277000	0.43417	2.641000	0.89580	0.555000	0.69702	AGA	NDC80	-	NULL	ENSG00000080986		0.274	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	-	0	65	0	G	NM_006101		2616470	1	tier1	-	no_errors	ENST00000261597	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.982	T	T	2616470	G	T	2616470	3	4	47	1	0	0	0	0	1	0	0	0	10281	942	33	3	1888	3	NDC80	18	2616470	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		2616470	75460778	184	11509											
SMCHD1	23347	genome.wustl.edu	37	chr18	2739474	2739474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaaaatgtgaaatgaaagGaggaaaaacagtacagatgg	20	8	11	2	0	0	3	0	2	0	1	0	5	0	5	0	3	2	1	0	3	7	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr18:2739474G>T	ENST00000320876.6	+	27	3808	c.3470G>T	c.(3469-3471)gGa>gTa	p.G1157V	SMCHD1_ENST00000261598.8_Missense_Mutation_p.G1157V|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1157					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GAAATGAAAGGAGGAAAAACA	0.343																																																	0													97	87	90					18																	2739474		1841	4091	5932	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3470G>T	18.37:g.2739474G>T	ENSP00000326603:p.Gly1157Val		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge	p.G1157V	ENST00000320876.6	37	c.3470	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269103	0.80469	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.27104	1.69;1.7	5.61	5.61	0.85477	.	0.133343	0.52532	D	0.000071	T	0.51109	0.1655	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50259	-0.8849	10	0.87932	D	0	-18.6554	18.627	0.91344	0.0:0.0:1.0:0.0	.	1157	A6NHR9	SMHD1_HUMAN	V	1157	ENSP00000326603:G1157V;ENSP00000261598:G1157V	ENSP00000261598:G1157V	G	+	2	0	SMCHD1	2729474	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	6.796000	0.75145	2.642000	0.89623	0.650000	0.86243	GGA	SMCHD1	-	NULL	ENSG00000101596		0.343	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	-	0	67	0	G			2739474	1	tier1	-	no_errors	ENST00000320876	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	2739474	G	T	2739474	3	4	47	1	0	0	0	0	1	0	0	0	14833	1174	41	3	3576	3	SMCHD1	18	2739474	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	123004	2739474	75337774	185	11510											
DSG1	1828	genome.wustl.edu	37	chr18	28916515	28916515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaatatgggatcaaatGataaagtgggagactttgta	14	12	12	3	0	1	2	1	1	0	1	1	4	1	3	0	3	0	2	0	3	6	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr18:28916515G>T	ENST00000257192.4	+	9	1416	c.1204G>T	c.(1204-1206)Gat>Tat	p.D402Y		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	402	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGGATCAAATGATAAAGTGGG	0.383																																																	0													89	82	84					18																	28916515		2203	4300	6503	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1204G>T	18.37:g.28916515G>T	ENSP00000257192:p.Asp402Tyr		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.D402Y	ENST00000257192.4	37	c.1204	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.253770	0.01457	.	.	ENSG00000134760	ENST00000257192	T	0.60424	0.19	5.57	-3.29	0.05017	Cadherin (2);Cadherin-like (1);	0.966394	0.08523	N	0.933061	T	0.14743	0.0356	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34304	-0.9834	10	0.05620	T	0.96	.	5.8605	0.18745	0.0:0.2269:0.2337:0.5393	.	402	Q02413	DSG1_HUMAN	Y	402	ENSP00000257192:D402Y	ENSP00000257192:D402Y	D	+	1	0	DSG1	27170513	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.325000	0.07976	-0.426000	0.07360	-1.219000	0.01604	GAT	DSG1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000134760		0.383	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1		0	67	0	G	NM_001942		28916515	1			no_errors	ENST00000257192	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.001	T	T	28916515	G	T	28916515	3	4	47	1	0	0	0	0	1	0	0	0	4790	1290	45	3	1238	3	DSG1	18	28916515	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	26177041	28916515	49160733	186	11511											
SETBP1	26040	genome.wustl.edu	37	chr18	42643239	42643239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaagaagaggcgcgggcGtcccaggaagcagcccaccc	10	2	15	14	4	0	3	0	1	0	2	1	4	1	4	3	3	2	1	3	3	3	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr18:42643239G>A	ENST00000282030.5	+	6	4663	c.4367G>A	c.(4366-4368)cGt>cAt	p.R1456H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1456						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGCGCGGGCGTCCCAGGAAG	0.557									Schinzel-Giedion syndrome																																								0													35	31	32					18																	42643239		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4367G>A	18.37:g.42643239G>A	ENSP00000282030:p.Arg1456His		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.R1456H	ENST00000282030.5	37	c.4367	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	32	5.116390	0.94385	.	.	ENSG00000152217	ENST00000282030	D	0.85411	-1.98	5.16	5.16	0.70880	AT hook, DNA-binding motif (1);	0.000000	0.64402	D	0.000001	D	0.89058	0.6607	L	0.34521	1.04	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	D	0.90342	0.4360	10	0.87932	D	0	.	18.6082	0.91273	0.0:0.0:1.0:0.0	.	1456	Q9Y6X0	SETBP_HUMAN	H	1456	ENSP00000282030:R1456H	ENSP00000282030:R1456H	R	+	2	0	SETBP1	40897237	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.721000	0.98766	2.556000	0.86216	0.563000	0.77884	CGT	SETBP1	-	smart_AT_hook_DNA-bd_motif	ENSG00000152217		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	12	0	G	NM_001130110		42643239	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	42643239	G	A	42643239	3	1	47	1	0	0	0	0	1	0	0	0	14174	1145	40	1	4578	1	SETBP1	18	42643239	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	13726724	42643239	35434009	187	11512											
TCF4	6925	genome.wustl.edu	37	chr18	53018130	53018130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactactgtgaagaggcctCcttcggggattattgctaga	9	11	12	9	1	0	3	0	1	0	2	2	4	1	4	2	3	2	2	2	3	4	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr18:53018130C>A	ENST00000356073.4	-	7	1085	c.474G>T	c.(472-474)agG>agT	p.R158S	TCF4_ENST00000564403.2_Missense_Mutation_p.R158S|TCF4_ENST00000566286.1_Missense_Mutation_p.R156S|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000564228.1_Missense_Mutation_p.R87S|TCF4_ENST00000565018.2_Missense_Mutation_p.R158S|TCF4_ENST00000398339.1_Missense_Mutation_p.R260S|TCF4_ENST00000568740.1_Missense_Mutation_p.R133S|TCF4_ENST00000570177.2_Missense_Mutation_p.R28S|TCF4_ENST00000537856.3_Missense_Mutation_p.R28S|TCF4_ENST00000564999.1_Missense_Mutation_p.R158S|TCF4_ENST00000544241.2_Missense_Mutation_p.R87S|TCF4_ENST00000543082.1_Missense_Mutation_p.R116S|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000537578.1_Missense_Mutation_p.R134S|TCF4_ENST00000354452.3_Missense_Mutation_p.R158S|TCF4_ENST00000568673.1_Missense_Mutation_p.R134S|TCF4_ENST00000540999.1_Missense_Mutation_p.R134S|TCF4_ENST00000561992.1_Missense_Mutation_p.R28S	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	158					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAAGAGGCCTCCTTCGGGGAT	0.438																																																	0													104	102	103					18																	53018130		2203	4300	6503	SO:0001583	missense	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.474G>T	18.37:g.53018130C>A	ENSP00000348374:p.Arg158Ser		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R260S	ENST00000356073.4	37	c.780	CCDS11960.1	18	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162916	0.38217	.	.	ENSG00000196628	ENST00000354452;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.41	1.46	0.22682	.	0.000000	0.85682	D	0.000000	T	0.70150	0.3191	M	0.72479	2.2	0.28636	N	0.907401	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.989;0.973;0.999;0.999	T	0.64084	-0.6490	10	0.66056	D	0.02	-24.9582	9.0231	0.36213	0.0:0.6736:0.0:0.3264	.	134;158;134;260;158;116;87	B7Z5M6;G0LNT9;B7Z6Y1;E9PH57;P15884;B3KUC0;B3KT62	.;.;.;.;ITF2_HUMAN;.;.	S	158;158;116;134;134;87;28;260	ENSP00000346440:R158S;ENSP00000348374:R158S;ENSP00000439656:R116S;ENSP00000445202:R134S;ENSP00000440731:R134S;ENSP00000441562:R87S;ENSP00000439827:R28S;ENSP00000381382:R260S	ENSP00000346440:R158S	R	-	3	2	TCF4	51169128	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.168000	0.31859	0.041000	0.15688	0.655000	0.94253	AGG	TCF4	-	NULL	ENSG00000196628		0.438	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1	-	0	66	0	C	NM_003199		53018130	-1	tier1	-	no_errors	ENST00000398339	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	A	A	53018130	C	A	53018130	3	1	47	1	0	0	0	0	1	0	0	0	15742	854	30	3	1593	3	TCF4	18	53018130	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	10374891	53018130	25059118	188	11513											
PRTN3	5657	genome.wustl.edu	37	chr19	847929	847929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctacgtggactggatccGttccacgctgcgccgtgtgg	4	10	13	14	5	1	0	0	0	1	0	3	2	3	2	4	3	2	2	4	3	1	2	rs369029250		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:847929G>T	ENST00000234347.5	+	5	777	c.731G>T	c.(730-732)cGt>cTt	p.R244L	PRTN3_ENST00000544537.2_Missense_Mutation_p.R203L	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	244	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTGGATCCGTTCCACGCTG	0.657																																																	0													57	43	48					19																	847929		2203	4300	6503	SO:0001583	missense	0				CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.731G>T	19.37:g.847929G>T	ENSP00000234347:p.Arg244Leu		P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R244L	ENST00000234347.5	37	c.731	CCDS32860.1	19	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483838	0.26598	.	.	ENSG00000196415	ENST00000234347;ENST00000544537	T	0.58652	0.32	2.58	-3.76	0.04359	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	.	.	.	.	T	0.32406	0.0828	N	0.12611	0.24	0.09310	N	1	B	0.29136	0.234	B	0.20184	0.028	T	0.14643	-1.0465	9	0.56958	D	0.05	.	8.0646	0.30652	0.7643:0.0:0.2357:0.0	.	244	P24158	PRTN3_HUMAN	L	244;203	ENSP00000234347:R244L	ENSP00000234347:R244L	R	+	2	0	PRTN3	798929	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.198000	0.09505	-0.706000	0.05028	-0.643000	0.03959	CGT	PRTN3	-	superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1	ENSG00000196415		0.657	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTN3	HGNC	protein_coding	OTTHUMT00000457888.2		0	15	0	G	NM_002777		847929	1			no_errors	ENST00000234347	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.001	T	T	847929	G	T	847929	3	4	47	1	0	0	0	0	1	0	0	0	12681	1145	40	2	749	2	PRTN3	19	847929	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		847929	58281054	189	11514											
CACNA1A	773	genome.wustl.edu	37	chr19	13441098	13441098	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgatcctcagcctcttcGgggttgagcaaatctgtctt	7	13	10	11	1	4	2	1	2	3	0	6	2	5	2	2	2	3	3	2	2	1	3	rs376451601		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:13441098G>T	ENST00000360228.5	-	10	1304	c.1305C>A	c.(1303-1305)ccC>ccA	p.P435P	CACNA1A_ENST00000573710.2_Silent_p.P436P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	436					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGCCTCTTCGGGGTTGAGCA	0.488																																																	0													81	81	81					19																	13441098		1895	4121	6016	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1305C>A	19.37:g.13441098G>T			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.P435	ENST00000360228.5	37	c.1305	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.488	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	48	0	G	NM_000068		13441098	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.963	T	T	13441098	G	T	13441098	2	4	47	1	0	0	0	0	0	0	0	1	2545	1103	39	2		2	CACNA1A	19	13441098	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	12593169	13441098	45687885	190	11515											
CASP14	23581	genome.wustl.edu	37	chr19	15164352	15164352	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtgtcaccaaagcccgGgaaggttccgaagaagacct	11	7	12	11	2	1	2	1	0	0	2	2	4	2	3	4	2	1	1	4	2	4	1	rs112772421	byFrequency	TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:15164352G>T	ENST00000427043.3	+	3	395	c.87G>T	c.(85-87)cgG>cgT	p.R29R	CASP14_ENST00000221740.1_Silent_p.R29R|AC004699.1_ENST00000411269.1_RNA	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	29					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CCAAAGCCCGGGAAGGTTCCG	0.522																																																	0													98	94	96					19																	15164352		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.87G>T	19.37:g.15164352G>T			O95823|Q3SYC9	Silent	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R29	ENST00000427043.3	37	c.87	CCDS12323.1	19																																																																																			CASP14	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	ENSG00000105141		0.522	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1	-	0	52	0	G	NM_012114		15164352	1	tier1	-	no_errors	ENST00000221740	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.912	T	T	15164352	G	T	15164352	2	4	47	1	0	0	0	0	0	0	0	1	2677	1219	43	3		3	CASP14	19	15164352	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1723254	15164352	43964631	191	11516											
PLVAP	83483	genome.wustl.edu	37	chr19	17487777	17487777	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgatgcggtccaggtcGcggcgagcattcagccacat	8	8	13	12	4	1	1	1	1	0	0	3	2	2	1	2	3	3	2	2	3	0	2	rs181770634	byFrequency	TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:17487777G>A	ENST00000252590.4	-	1	382	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	107					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R107R(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGTCCAGGTCGCGGCGAGCAT	0.637													G|||	3	0.000599042	0	0	5008	,	,		18373	0.002		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	ovary(1)											99	86	90					19																	17487777		2203	4300	6503	SO:0001819	synonymous_variant	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.321C>T	19.37:g.17487777G>A			Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	pfam_PV-1	p.R107	ENST00000252590.4	37	c.321	CCDS32952.1	19																																																																																			PLVAP	-	pfam_PV-1	ENSG00000130300		0.637	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1		0	20	0	G	NM_031310		17487777	-1			no_errors	ENST00000252590	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.039	A	A	17487777	G	A	17487777	2	1	47	1	0	0	0	0	0	0	0	1	12155	1074	38	1		1	PLVAP	19	17487777	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2323425	17487777	41641206	192	11517											
ZNF181	339318	genome.wustl.edu	37	chr19	35232847	35232847	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccatataaatgtaatGagtgtgggaaagcttttagc	16	11	10	4	0	0	1	0	1	0	0	0	2	0	2	1	1	3	2	1	1	8	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:35232847G>T	ENST00000492450.1	+	4	1650	c.1561G>T	c.(1561-1563)Gag>Tag	p.E521*	ZNF181_ENST00000459757.2_Nonsense_Mutation_p.E520*|ZNF181_ENST00000392232.3_Nonsense_Mutation_p.E565*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	521					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TAAATGTAATGAGTGTGGGAA	0.388																																																	0													64	71	69					19																	35232847		2202	4298	6500	SO:0001587	stop_gained	0			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"Zinc fingers, C2H2-type", "-"	12971	protein-coding gene	gene with protein product		606741	"zinc finger protein 181 (HHZ181)"				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1561G>T	19.37:g.35232847G>T	ENSP00000420727:p.Glu521*		B7ZKX3|Q49A75	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E565*	ENST00000492450.1	37	c.1693	CCDS32990.2	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264395	0.80358	.	.	ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757	.	.	.	2.74	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	11.6561	0.51320	0.0:0.0:1.0:0.0	.	.	.	.	X	565;521;520	.	ENSP00000376065:E565X	E	+	1	0	ZNF181	39924687	0.002000	0.14202	0.998000	0.56505	0.969000	0.65631	0.861000	0.27885	1.851000	0.53745	0.655000	0.94253	GAG	ZNF181	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197841		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF181	HGNC	protein_coding	OTTHUMT00000349005.3	-	0	135	0	G	NM_001029997		35232847	1	tier1	-	no_errors	ENST00000392232	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	0.159	T	T	35232847	G	T	35232847	4	4	47	1	0	0	0	0	0	1	0	0	17797	1291	45	3	1575	3	ZNF181	19	35232847	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	17745070	35232847	23896136	193	11518											
PSMC4	5704	genome.wustl.edu	37	chr19	40486575	40486575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaactcgctgcagatgtggCccggccagataagatttcag	10	10	11	10	2	1	3	1	0	0	3	2	3	1	3	2	2	2	2	2	2	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:40486575C>T	ENST00000157812.2	+	10	1292	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PSMC4_ENST00000455878.2_Missense_Mutation_p.A334V	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	365					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCAGATGTGGCCCGGCCAGAT	0.532																																					Colon(105;1478 1543 4034 6132 38638)												0													149	145	146					19																	40486575		2203	4300	6503	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.1094C>T	19.37:g.40486575C>T	ENSP00000157812:p.Ala365Val		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.A365V	ENST00000157812.2	37	c.1094	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	c	18.30	3.594729	0.66219	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95001	-3.58;-3.58	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93651	0.7972	M	0.72479	2.2	0.80722	D	1	P;P	0.45672	0.696;0.864	B;B	0.43867	0.373;0.434	D	0.92037	0.5638	10	0.12430	T	0.62	-14.5693	16.9981	0.86373	0.0:1.0:0.0:0.0	.	334;365	P43686-2;P43686	.;PRS6B_HUMAN	V	365;334	ENSP00000157812:A365V;ENSP00000413869:A334V	ENSP00000157812:A365V	A	+	2	0	PSMC4	45178415	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.728000	0.74769	2.607000	0.88179	0.561000	0.74099	GCC	PSMC4	-	superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.532	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1		0	53	0	C	NM_006503		40486575	1			no_errors	ENST00000157812	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	40486575	C	T	40486575	3	4	47	1	0	0	0	0	1	0	0	0	12731	739	26	3	1132	3	PSMC4	19	40486575	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	5253728	40486575	18642408	194	11519											
CEACAM5	1048	genome.wustl.edu	37	chr19	42221408	42221408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcatcaccagcaacaaCtccaaccccgtggaggatga	12	6	7	16	1	2	1	2	1	0	0	3	3	3	3	5	2	4	1	5	2	3	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:42221408C>A	ENST00000221992.6	+	5	1107	c.993C>A	c.(991-993)aaC>aaA	p.N331K	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Missense_Mutation_p.N331K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.N330K	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	331	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCAGCAACAACTCCAACCCCG	0.522																																																	0													146	148	147					19																	42221408		2203	4300	6503	SO:0001583	missense	0			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.993C>A	19.37:g.42221408C>A	ENSP00000221992:p.Asn331Lys		H9KVA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N331K	ENST00000221992.6	37	c.993	CCDS12584.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.91|11.91	1.780405|1.780405	0.31502|0.31502	.|.	.|.	ENSG00000105388|ENSG00000105388	ENST00000398599|ENST00000221992;ENST00000405816	.|T;T	.|0.63255	.|-0.03;-0.03	2.77|2.77	1.63|1.63	0.23807|0.23807	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.74306|0.74306	0.3699|0.3699	M|M	0.80982|0.80982	2.52|2.52	0.09310|0.09310	N|N	0.999994|0.999994	.|P;B	.|0.45240	.|0.854;0.053	.|P;B	.|0.61070	.|0.883;0.113	T|T	0.60944|0.60944	-0.7162|-0.7162	5|9	.|0.37606	.|T	.|0.19	.|.	7.8537|7.8537	0.29470|0.29470	0.0:0.7397:0.2603:0.0|0.0:0.7397:0.2603:0.0	.|.	.|331;331	.|P06731;Q53G30	.|CEAM5_HUMAN;.	I|K	327|331	.|ENSP00000221992:N331K;ENSP00000385072:N331K	.|ENSP00000221992:N331K	L|N	+|+	1|3	0|2	CEACAM5|CEACAM5	46913248|46913248	0.002000|0.002000	0.14202|0.14202	0.040000|0.040000	0.18447|0.18447	0.203000|0.203000	0.24098|0.24098	0.373000|0.373000	0.20484|0.20484	0.393000|0.393000	0.25203|0.25203	0.479000|0.479000	0.44913|0.44913	CTC|AAC	CEACAM5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105388		0.522	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	-	0	98	0	C	NM_004363		42221408	1	tier1	-	no_errors	ENST00000221992	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.538	A	A	42221408	C	A	42221408	3	1	47	1	0	0	0	0	1	0	0	0	3202	564	20	3	1011	3	CEACAM5	19	42221408	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	1734833	42221408	16907575	195	11520											
GSK3A	2931	genome.wustl.edu	37	chr19	42738787	42738787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcggtgacacacgccctggGagtggatgtaggccaagctg	8	6	16	11	3	0	1	0	1	0	0	0	3	0	3	2	4	1	2	2	4	2	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:42738787G>T	ENST00000222330.3	-	5	837	c.710C>A	c.(709-711)tCc>tAc	p.S237Y	GSK3A_ENST00000398249.4_Missense_Mutation_p.S155Y|AC006486.9_ENST00000594664.1_Missense_Mutation_p.S150Y	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CACGCCCTGGGAGTGGATGTA	0.602																																																	0													69	58	62					19																	42738787		2203	4299	6502	SO:0001583	missense	0				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.710C>A	19.37:g.42738787G>T	ENSP00000222330:p.Ser237Tyr		O14959	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S237Y	ENST00000222330.3	37	c.710	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209091	0.79240	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.51325	0.71;0.71	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	M	0.85777	2.775	0.80722	D	1	D;D	0.69078	0.997;0.975	D;D	0.74023	0.982;0.925	T	0.77885	-0.2421	10	0.87932	D	0	-10.6933	17.4117	0.87487	0.0:0.0:1.0:0.0	.	237;155	P49840;A8MT37	GSK3A_HUMAN;.	Y	237;155;182	ENSP00000222330:S237Y;ENSP00000381301:S155Y	ENSP00000222330:S237Y	S	-	2	0	GSK3A	47430627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.407000	0.80029	2.470000	0.83445	0.591000	0.81541	TCC	GSK3A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105723		0.602	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1		0	60	0	G			42738787	-1			no_errors	ENST00000222330	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	42738787	G	T	42738787	3	4	47	1	0	0	0	0	1	0	0	0	6850	1174	41	3	769	3	GSK3A	19	42738787	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	517379	42738787	16390196	196	11521											
ZNF227	7770	genome.wustl.edu	37	chr19	44739247	44739247	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatattaaaactgacacaGaaccaaaaccctgcaaaggt	19	6	6	10	0	0	2	0	1	0	1	0	2	0	2	2	1	5	2	2	1	7	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:44739247G>T	ENST00000313040.7	+	6	869	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	ZNF227_ENST00000589005.1_Nonsense_Mutation_p.E171*|ZNF227_ENST00000391961.2_Nonsense_Mutation_p.E171*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AACTGACACAGAACCAAAACC	0.378																																																	0													62	62	62					19																	44739247		2203	4300	6503	SO:0001587	stop_gained	0			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"Zinc fingers, C2H2-type", "-"	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.664G>T	19.37:g.44739247G>T	ENSP00000321049:p.Glu222*		B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E222*	ENST00000313040.7	37	c.664	CCDS12636.1	19	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327643	0.81690	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	4.27	-1.75	0.08031	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	4.1138	0.10072	0.4029:0.1722:0.4248:0.0	.	.	.	.	X	222;179;171;201	.	ENSP00000321049:E222X	E	+	1	0	ZNF227	49431087	.	.	0.000000	0.03702	0.315000	0.28087	.	.	-0.287000	0.09064	-0.251000	0.11542	GAA	ZNF227	-	NULL	ENSG00000131115		0.378	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1		0	35	0	G	NM_182490		44739247	1			no_errors	ENST00000313040	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.000	T	T	44739247	G	T	44739247	4	4	47	1	0	0	0	0	0	1	0	0	17829	943	33	3	678	3	ZNF227	19	44739247	Nonsense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	2000460	44739247	14389736	197	11522											
IGFL3	388555	genome.wustl.edu	37	chr19	46627241	46627241	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggggccaaaagactcGggacagcagagctcaaagca	13	4	14	10	1	1	2	1	0	0	2	2	3	1	3	1	3	4	4	1	3	3	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:46627241G>T	ENST00000341415.2	-	3	276	c.252C>A	c.(250-252)ccC>ccA	p.P84P	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	84						extracellular region (GO:0005576)		p.P84P(1)		endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CAAAAGACTCGGGACAGCAGA	0.537																																																	1	Substitution - coding silent(1)	lung(1)											92	114	107					19																	46627241		2186	4300	6486	SO:0001819	synonymous_variant	0			AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.252C>A	19.37:g.46627241G>T				Silent	SNP	NULL	p.P84	ENST00000341415.2	37	c.252	CCDS33058.1	19																																																																																			IGFL3	-	NULL	ENSG00000188624		0.537	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL3	HGNC	protein_coding	OTTHUMT00000421323.1		0	26	0	G	NM_207393		46627241	-1			no_errors	ENST00000341415	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.142	T	T	46627241	G	T	46627241	2	4	47	1	0	0	0	0	0	0	0	1	7615	1103	39	2		2	IGFL3	19	46627241	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1887994	46627241	12501742	198	11523											
MEIS3	56917	genome.wustl.edu	37	chr19	47920526	47920526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcgggccatagggccctgGtactgcgggcactgtctctg	4	9	16	12	2	1	0	0	0	1	0	2	0	1	0	2	4	3	2	2	4	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:47920526G>T	ENST00000558555.1	-	2	281	c.94C>A	c.(94-96)Cca>Aca	p.P32T	MEIS3_ENST00000441740.2_Missense_Mutation_p.P32T|MEIS3_ENST00000331559.5_Missense_Mutation_p.P32T|MEIS3_ENST00000561293.1_Missense_Mutation_p.P32T|MEIS3_ENST00000561096.1_Missense_Mutation_p.P120T|MEIS3_ENST00000559524.1_Missense_Mutation_p.P32T			Q99687	MEIS3_HUMAN	Meis homeobox 3	32					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TAGGGCCCTGGTACTGCGGGC	0.652																																																	0													42	51	48					19																	47920526		2202	4300	6502	SO:0001583	missense	0			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"Homeoboxes / TALE class"	29537	protein-coding gene	gene with protein product			"Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.94C>A	19.37:g.47920526G>T	ENSP00000454073:p.Pro32Thr		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P32T	ENST00000558555.1	37	c.94		19	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328016	0.24080	.	.	ENSG00000105419	ENST00000331559;ENST00000441740	T;T	0.36520	1.25;1.25	2.95	0.611	0.17586	.	0.111985	0.32970	N	0.005425	T	0.51398	0.1672	M	0.70275	2.135	0.24069	N	0.995981	B;P;D	0.89917	0.0;0.764;1.0	B;B;D	0.87578	0.002;0.306;0.998	T	0.32824	-0.9892	10	0.54805	T	0.06	-6.3849	7.0027	0.24820	0.0:0.1903:0.614:0.1957	.	32;32;32	Q99687;Q99687-3;Q99687-2	MEIS3_HUMAN;.;.	T	32	ENSP00000333552:P32T;ENSP00000388667:P32T	ENSP00000333552:P32T	P	-	1	0	MEIS3	52612338	0.361000	0.24972	0.181000	0.23098	0.024000	0.10985	1.072000	0.30678	0.257000	0.21650	-0.314000	0.08810	CCA	MEIS3	-	NULL	ENSG00000105419		0.652	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	-	0	74	0	G	XM_085929		47920526	-1	tier1	-	no_errors	ENST00000559524	ensembl	human	known	74_37	missense	5.83	97	6	SNP	0.641	T	T	47920526	G	T	47920526	3	4	47	1	0	0	0	0	1	0	0	0	9507	1261	44	3	1215	3	MEIS3	19	47920526	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1293285	47920526	11208457	199	11524											
BCAT2	587	genome.wustl.edu	37	chr19	49300259	49300259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggataacaccattcagcgGgggcgtcaccagctccagca	11	5	11	14	2	2	0	2	0	0	0	3	1	3	1	3	3	4	2	3	3	1	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:49300259G>T	ENST00000316273.6	-	8	871	c.859C>A	c.(859-861)Ccg>Acg	p.P287T	BCAT2_ENST00000545387.2_Missense_Mutation_p.P195T|BCAT2_ENST00000598162.1_Missense_Mutation_p.P287T|BCAT2_ENST00000597011.1_Missense_Mutation_p.P247T|BCAT2_ENST00000402551.1_Missense_Mutation_p.P247T|BCAT2_ENST00000599246.1_Missense_Mutation_p.P195T	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	287					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	CCATTCAGCGGGGGCGTCACC	0.592																																																	0													83	65	71					19																	49300259		2203	4300	6503	SO:0001583	missense	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"branched chain aminotransferase 2, mitochondrial"	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.859C>A	19.37:g.49300259G>T	ENSP00000322991:p.Pro287Thr		B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.P287T	ENST00000316273.6	37	c.859	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676924	0.47886	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.25912	1.77;1.77;1.77	4.72	3.66	0.41972	Aminotransferase, class IV, conserved site (1);	0.183985	0.47455	D	0.000226	T	0.55305	0.1912	M	0.91717	3.235	0.58432	D	0.999998	D;D;P;D	0.67145	0.996;0.982;0.953;0.982	D;D;P;D	0.72338	0.977;0.937;0.862;0.937	T	0.63607	-0.6599	10	0.87932	D	0	-0.8254	10.2072	0.43120	0.1022:0.0:0.8978:0.0	.	247;287;195;287	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	T	287;195;247	ENSP00000322991:P287T;ENSP00000440973:P195T;ENSP00000385161:P247T	ENSP00000322991:P287T	P	-	1	0	BCAT2	53992071	1.000000	0.71417	0.984000	0.44739	0.282000	0.26991	2.923000	0.48868	1.286000	0.44565	0.561000	0.74099	CCG	BCAT2	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	ENSG00000105552		0.592	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	-	0	45	0	G			49300259	-1	tier1	-	no_errors	ENST00000316273	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	T	T	49300259	G	T	49300259	3	4	47	1	0	0	0	0	1	0	0	0	1356	1232	43	3	335	3	BCAT2	19	49300259	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	1379733	49300259	9828724	200	11525											
ZNF616	90317	genome.wustl.edu	37	chr19	52620223	52620223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttggaacctttctcctGtattactgttctctgttggt	4	20	8	9	0	2	0	0	0	2	0	4	1	2	1	2	2	2	4	2	2	3	6			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:52620223G>T	ENST00000600228.1	-	4	455	c.194C>A	c.(193-195)aCa>aAa	p.T65K	ZNF616_ENST00000330123.5_3'UTR|ZNF616_ENST00000596290.1_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CCTTTCTCCTGTATTACTGTT	0.333																																																	0													105	104	104					19																	52620223		2203	4300	6503	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.194C>A	19.37:g.52620223G>T	ENSP00000471000:p.Thr65Lys		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T65K	ENST00000600228.1	37	c.194	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	G	2.000	-0.429666	0.04701	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.64	-3.27	0.05048	Krueppel-associated box (2);	.	.	.	.	T	0.14442	0.0349	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29366	-1.0014	8	0.12430	T	0.62	.	0.1812	0.00124	0.3768:0.1775:0.2093:0.2364	.	65	Q08AN1	ZN616_HUMAN	K	65	.	ENSP00000328722:T65K	T	-	2	0	ZNF616	57312035	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	-2.500000	0.00967	-1.547000	0.01715	0.305000	0.20034	ACA	ZNF616	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000204611		0.333	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0	51	0	G	XM_030892		52620223	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.000	T	T	52620223	G	T	52620223	3	4	47	1	0	0	0	0	1	0	0	0	18089	1377	48	3	2155	3	ZNF616	19	52620223	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	3319964	52620223	6508760	201	11526											
ZNF497	162968	genome.wustl.edu	37	chr19	58867836	58867836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggccttgccgcagtcgGcgcaggcgaagggcttggcg	6	5	19	11	5	0	0	0	0	0	0	1	2	0	1	2	6	1	3	2	6	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr19:58867836G>T	ENST00000311044.3	-	3	1354	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.A389D	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A389V(1)		central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GCCGCAGTCGGCGCAGGCGAA	0.706																																																	1	Substitution - Missense(1)	lung(1)											5	5	5					19																	58867836		2106	4141	6247	SO:0001583	missense	0			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1166C>A	19.37:g.58867836G>T	ENSP00000311183:p.Ala389Asp		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A389D	ENST00000311044.3	37	c.1166	CCDS12977.1	19	.	.	.	.	.	.	.	.	.	.	G	5.211	0.224484	0.09916	.	.	ENSG00000174586	ENST00000311044;ENST00000425453;ENST00000391697	T;T	0.16073	2.37;2.37	0.658	0.658	0.17855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.01202	-0.96	0.09310	N	1	B	0.15719	0.014	B	0.21708	0.036	T	0.37753	-0.9692	9	0.38643	T	0.18	.	5.6325	0.17518	0.0:0.0:0.6846:0.3154	.	389	Q6ZNH5	ZN497_HUMAN	D	389;389;178	ENSP00000311183:A389D;ENSP00000402815:A389D	ENSP00000311183:A389D	A	-	2	0	ZNF497	63559648	0.000000	0.05858	0.030000	0.17652	0.089000	0.18198	-0.128000	0.10531	0.613000	0.30089	0.205000	0.17691	GCC	ZNF497	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174586		0.706	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF497	HGNC	protein_coding	OTTHUMT00000466942.2		0	10	0	G	NM_198458		58867836	-1			no_errors	ENST00000311044	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.002	T	T	58867836	G	T	58867836	3	4	47	1	0	0	0	0	1	0	0	0	17994	1203	42	3	334	3	ZNF497	19	58867836	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	6247613	58867836	261147	202	11527											
C20orf194	25943	genome.wustl.edu	37	chr20	3268358	3268358	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggttctgctgggcctctagGgcactggaaaggtatctctg	6	11	14	10	1	3	0	0	0	3	0	4	1	3	1	1	5	1	4	1	5	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr20:3268358G>T	ENST00000252032.9	-	27	2473	c.2406C>A	c.(2404-2406)gcC>gcA	p.A802A	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	802										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGGCCTCTAGGGCACTGGAAA	0.517																																																	0													139	135	137					20																	3268358		2002	4187	6189	SO:0001819	synonymous_variant	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2406C>A	20.37:g.3268358G>T			Q66K86|Q6P2R9|Q9UFX9	Silent	SNP	NULL	p.A802	ENST00000252032.9	37	c.2406	CCDS42851.1	20																																																																																			C20orf194	-	NULL	ENSG00000088854		0.517	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	-	0	44	0	G	NM_001009984		3268358	-1	tier1	-	no_errors	ENST00000252032	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	T	T	3268358	G	T	3268358	2	4	47	1	0	0	0	0	0	0	0	1	2106	1219	43	3		3	C20orf194	20	3268358	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		3268358	59757162	203	11528											
VSX1	30813	genome.wustl.edu	37	chr20	25057116	25057116	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctttgaagtggtcagaGccccagagtcctgccaactt	8	11	9	13	0	2	3	1	1	1	2	3	3	3	3	5	1	3	0	5	1	2	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr20:25057116G>T	ENST00000376709.4	-	5	1142	c.879C>A	c.(877-879)ggC>ggA	p.G293G	VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	293					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGTGGTCAGAGCCCCAGAGTC	0.428																																																	0													101	109	106					20																	25057116		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"Homeoboxes / PRD class"	12723	protein-coding gene	gene with protein product		605020	"posterior polymorphous corneal dystrophy", "visual system homeobox 1 homolog, CHX10-like (zebrafish)"	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.879C>A	20.37:g.25057116G>T			B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G293	ENST00000376709.4	37	c.879	CCDS13168.1	20																																																																																			VSX1	-	NULL	ENSG00000100987		0.428	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX1	HGNC	protein_coding	OTTHUMT00000078384.3	-	0	15	0	G			25057116	-1	tier1	-	no_errors	ENST00000376709	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.000	T	T	25057116	G	T	25057116	2	4	47	1	0	0	0	0	0	0	0	1	17280	958	34	3		3	VSX1	20	25057116	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	21788758	25057116	37968404	204	11529											
TP53INP2	58476	genome.wustl.edu	37	chr20	33297097	33297097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccgcgggccgccctcCgcccgcgccctccttgatgg	1	6	12	22	6	0	1	0	1	0	0	2	1	2	1	8	2	1	0	8	2	0	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr20:33297097C>T	ENST00000374810.3	+	4	571	c.182C>T	c.(181-183)cCg>cTg	p.P61L	NCOA6_ENST00000593786.1_Intron|TP53INP2_ENST00000374809.2_Missense_Mutation_p.P61L	NM_021202.1	NP_067025.1	Q8IXH6	T53I2_HUMAN	tumor protein p53 inducible nuclear protein 2	61					autophagic vacuole assembly (GO:0000045)|osteoblast differentiation (GO:0001649)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(1)|urinary_tract(1)	2						ggccgccctccgcccgcgccc	0.736																																																	0													7	9	8					20																	33297097		2046	4154	6200	SO:0001583	missense	0			AL109824	CCDS13240.1	20q11.22	2010-01-05	2004-06-18	2004-06-18	ENSG00000078804	ENSG00000078804			16104	protein-coding gene	gene with protein product	"diabetes and obesity regulated"		"chromosome 20 open reading frame 110"	C20orf110		12477932	Standard	NM_021202		Approved	FLJ21759, FLJ23500, DKFZp434B2411, DKFZp434O0827, dJ1181N3.1, PINH, DOR	uc002xau.1	Q8IXH6	OTTHUMG00000032310	ENST00000374810.3:c.182C>T	20.37:g.33297097C>T	ENSP00000363943:p.Pro61Leu		A8K8S8|E1P5P6|Q5JX64|Q8IYL5|Q9NU00	Missense_Mutation	SNP	NULL	p.P61L	ENST00000374810.3	37	c.182	CCDS13240.1	20	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114130	0.56398	.	.	ENSG00000078804	ENST00000374810;ENST00000374809;ENST00000414082	T;T;T	0.33438	1.41;1.41;1.41	3.73	2.77	0.32553	.	0.160747	0.42053	D	0.000767	T	0.21550	0.0519	L	0.43923	1.385	0.53005	D	0.999961	B	0.10296	0.003	B	0.10450	0.005	T	0.08659	-1.0711	10	0.41790	T	0.15	-8.1197	4.2036	0.10478	0.1649:0.5828:0.1601:0.0922	.	61	Q8IXH6	T53I2_HUMAN	L	61	ENSP00000363943:P61L;ENSP00000363942:P61L;ENSP00000404410:P61L	ENSP00000363942:P61L	P	+	2	0	TP53INP2	32760758	0.887000	0.30362	0.996000	0.52242	0.969000	0.65631	0.639000	0.24690	1.131000	0.42111	0.561000	0.74099	CCG	TP53INP2	-	NULL	ENSG00000078804		0.736	TP53INP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP2	HGNC	protein_coding	OTTHUMT00000078807.2		0	61	0	C	NM_021202		33297097	1			no_errors	ENST00000374809	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.993	T	T	33297097	C	T	33297097	3	4	47	1	0	0	0	0	1	0	0	0	16437	652	23	1	188	1	TP53INP2	20	33297097	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	8239981	33297097	29728423	205	11530											
PROCR	10544	genome.wustl.edu	37	chr20	33762569	33762569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctatcacgtgtggtaccaGggcaacgcgtcgctgggggg	6	7	16	12	4	1	0	1	0	0	0	2	0	1	0	2	5	2	3	2	5	3	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr20:33762569G>T	ENST00000216968.4	+	2	217	c.135G>T	c.(133-135)caG>caT	p.Q45H	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	45					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TGTGGTACCAGGGCAACGCGT	0.622																																																	0													103	91	95					20																	33762569		2203	4300	6503	SO:0001583	missense	0			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.135G>T	20.37:g.33762569G>T	ENSP00000216968:p.Gln45His		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.Q45H	ENST00000216968.4	37	c.135	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	g	11.81	1.750054	0.30955	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82803	-1.65	5.22	0.669	0.17918	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.593539	0.16196	N	0.225145	T	0.76807	0.4039	M	0.70595	2.14	0.29431	N	0.859887	B	0.33904	0.431	B	0.34093	0.175	T	0.65220	-0.6221	10	0.27082	T	0.32	-0.1878	5.1666	0.15088	0.204:0.3398:0.4562:0.0	.	45	Q9UNN8	EPCR_HUMAN	H	45	ENSP00000216968:Q45H	ENSP00000216968:Q45H	Q	+	3	2	PROCR	33226230	0.094000	0.21725	0.836000	0.33094	0.977000	0.68977	0.120000	0.15647	-0.103000	0.12175	-0.265000	0.10407	CAG	PROCR	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000101000		0.622	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	-	0	58	0	G			33762569	1	tier1	-	no_errors	ENST00000216968	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.916	T	T	33762569	G	T	33762569	3	4	47	1	0	0	0	0	1	0	0	0	12589	991	35	3	141	3	PROCR	20	33762569	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	465472	33762569	29262951	206	11531											
L3MBTL	26013	genome.wustl.edu	37	chr20	42144758	42144758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaagaaggaaaggaccCagagggacaacccactgcta	17	2	12	10	0	0	3	0	0	0	3	0	6	0	6	2	3	2	2	2	3	6	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr20:42144758C>A	ENST00000427442.2	+	7	896	c.737C>A	c.(736-738)cCa>cAa	p.P246Q	L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P178Q|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.P178Q|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P246Q|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P178Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	178					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GGAAAGGACCCAGAGGGACAA	0.547																																																	0													79	69	72					20																	42144758		2203	4300	6503	SO:0001583	missense	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.737C>A	20.37:g.42144758C>A	ENSP00000402107:p.Pro246Gln		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.P246Q	ENST00000427442.2	37	c.737	CCDS46602.2	20	.	.	.	.	.	.	.	.	.	.	C	11.49	1.652931	0.29336	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134	T;T;T;T;T	0.17370	2.29;2.29;2.28;2.28;2.28	5.38	4.23	0.50019	.	0.474638	0.20143	N	0.098322	T	0.14313	0.0346	L	0.47716	1.5	0.09310	N	1	P;B;P;P	0.42203	0.744;0.229;0.773;0.589	B;B;B;B	0.38616	0.243;0.064;0.277;0.142	T	0.13872	-1.0493	10	0.13108	T	0.6	.	11.9262	0.52820	0.0:0.9021:0.0:0.0979	.	246;178;178;178	Q9Y468-5;Q9Y468;Q9Y468-2;Q9Y468-1	.;LMBL1_HUMAN;.;.	Q	246;246;178;178;178	ENSP00000402107:P246Q;ENSP00000398516:P246Q;ENSP00000362227:P178Q;ENSP00000403316:P178Q;ENSP00000362226:P178Q	ENSP00000362226:P178Q	P	+	2	0	L3MBTL1	41578172	0.828000	0.29307	0.995000	0.50966	0.645000	0.38454	0.971000	0.29396	2.530000	0.85305	0.655000	0.94253	CCA	L3MBTL1	-	NULL	ENSG00000185513		0.547	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	-	0	39	0	C	NM_032107		42144758	1	tier1	-	no_errors	ENST00000418998	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.348	A	A	42144758	C	A	42144758	3	1	47	1	0	0	0	0	1	0	0	0	8619	594	21	3	547	3	L3MBTL	20	42144758	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	8382189	42144758	20880762	207	11532											
POTEH	23784	genome.wustl.edu	37	chr22	16277775	16277775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgactagaaacagcatacTctctggccgtctgtccagat	11	9	9	12	2	2	2	0	0	2	2	4	4	3	2	2	1	3	1	2	1	3	2	rs201571982		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr22:16277775T>C	ENST00000343518.6	-	5	1190	c.1139A>G	c.(1138-1140)gAg>gGg	p.E380G	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	380										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AACAGCATACTCTCTGGCCGT	0.353																																																	0																																										SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1139A>G	22.37:g.16277775T>C	ENSP00000340610:p.Glu380Gly		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E380G	ENST00000343518.6	37	c.1139	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	7.521	0.656590	0.14580	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.64260	-0.09	0.887	0.887	0.19200	Ankyrin repeat-containing domain (4);	0.961112	0.08438	U	0.945886	T	0.57636	0.2067	L	0.45352	1.415	0.09310	N	1	P;P	0.50066	0.931;0.768	P;B	0.49477	0.612;0.418	T	0.49466	-0.8937	10	0.54805	T	0.06	.	4.0851	0.09943	0.0:0.0:0.0:1.0	.	380;343	Q6S545;A6NKF6	POTEH_HUMAN;.	G	343;380	ENSP00000340610:E380G	ENSP00000340610:E380G	E	-	2	0	POTEH	14657775	0.003000	0.15002	0.019000	0.16419	0.034000	0.12701	1.157000	0.31724	0.658000	0.30925	0.147000	0.16070	GAG	POTEH	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198062		0.353	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0	22	0	T	NM_001136213		16277775	-1	tier1	rs201571982	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	40.00	6	4	SNP	0.027	C	C	16277775	T	C	16277775	3	2	47	1	0	0	0	0	1	0	0	0	12306	1551	54	4	522	4	POTEH	22	16277775	Missense_Mutation	SNP	T	TCGA-KH-A6WC-01A-11D-A33E-09		16277775	35026791	208	11533											
PI4KA	5297	genome.wustl.edu	37	chr22	21083684	21083684	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcttctcactcaggctGatgtacttagatctccagtt	8	14	7	12	0	3	2	2	1	2	1	5	2	3	2	1	1	2	4	1	1	2	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr22:21083684G>T	ENST00000572273.1	-	39	4655	c.4425C>A	c.(4423-4425)atC>atA	p.I1475I	PI4KA_ENST00000414196.3_Silent_p.I285I|PI4KA_ENST00000255882.6_Silent_p.I1533I			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1475	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CACTCAGGCTGATGTACTTAG	0.607																																					GBM(136;1332 1831 3115 23601 50806)												0													158	118	131					22																	21083684		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4425C>A	22.37:g.21083684G>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.I1533	ENST00000572273.1	37	c.4599		22																																																																																			PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.607	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	70	0	G	NM_058004		21083684	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	21083684	G	T	21083684	2	4	47	1	0	0	0	0	0	0	0	1	11912	1280	45	3		3	PI4KA	22	21083684	Silent	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	4805909	21083684	30220882	209	11534											
PLXNB2	23654	genome.wustl.edu	37	chr22	50728337	50728337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagacaaagaagacgtagGggccgtcctcgaaggccgcc	12	4	14	11	4	0	4	0	1	0	3	2	5	1	4	4	3	0	1	4	3	5	1	rs375502604		TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr22:50728337G>T	ENST00000449103.1	-	3	817	c.677C>A	c.(676-678)cCc>cAc	p.P226H	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P226H			O15031	PLXB2_HUMAN	plexin B2	226	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAAGACGTAGGGGCCGTCCTC	0.612																																																	0													56	63	61					22																	50728337		2107	4229	6336	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.677C>A	22.37:g.50728337G>T	ENSP00000409171:p.Pro226His		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P226H	ENST00000449103.1	37	c.677	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822203	0.32237	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.04454	3.62;3.62;3.62	4.62	-9.24	0.00669	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	2.853150	0.00970	N	0.003222	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.38134	-0.9675	10	0.41790	T	0.15	.	2.0469	0.03562	0.1738:0.3445:0.1127:0.369	.	226	O15031	PLXB2_HUMAN	H	226	ENSP00000409171:P226H;ENSP00000352288:P226H;ENSP00000392620:P226H	ENSP00000352288:P226H	P	-	2	0	PLXNB2	49070464	0.000000	0.05858	0.002000	0.10522	0.905000	0.53344	-2.076000	0.01373	-2.763000	0.00369	0.462000	0.41574	CCC	PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.612	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0	35	0	G	NM_012401		50728337	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.000	T	T	50728337	G	T	50728337	3	4	47	1	0	0	0	0	1	0	0	0	12163	1232	43	3	4979	3	PLXNB2	22	50728337	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	29644653	50728337	576229	210	11535											
SCO2	9997	genome.wustl.edu	37	chr22	50962417	50962417	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacctgcaccagcttctCcagctcgtctgggcagatgt	7	9	9	16	1	2	1	0	0	2	1	4	1	2	1	4	1	3	4	4	1	0	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chr22:50962417C>A	ENST00000543927.1	-	2	630	c.424G>T	c.(424-426)Gag>Tag	p.E142*	CTA-384D8.36_ENST00000608319.1_RNA|SCO2_ENST00000252785.3_Nonsense_Mutation_p.E142*|SCO2_ENST00000395693.3_Nonsense_Mutation_p.E142*|SCO2_ENST00000535425.1_Nonsense_Mutation_p.E142*	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	142	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|eye development (GO:0001654)|in utero embryonic development (GO:0001701)|muscle system process (GO:0003012)|oxidation-reduction process (GO:0055114)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|nucleus (GO:0005634)	copper ion binding (GO:0005507)			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCAGCTTCTCCAGCTCGTCT	0.622																																																	0													56	54	54					22																	50962417		2203	4299	6502	SO:0001587	stop_gained	0			AL021683	CCDS14095.1	22q13.33	2014-01-30	2012-10-15		ENSG00000130489	ENSG00000130489		"Mitochondrial respiratory chain complex assembly factors"	10604	protein-coding gene	gene with protein product		604272	"SCO (cytochrome oxidase deficient, yeast) homolog 2", "SCO cytochrome oxidase deficient homolog 2 (yeast)", "myopia 6"	MYP6		10218584, 16091356, 23643385	Standard	NM_005138		Approved	SCO1L	uc003bma.3	O43819	OTTHUMG00000150251	ENST00000543927.1:c.424G>T	22.37:g.50962417C>A	ENSP00000444433:p.Glu142*		Q3T1B5|Q9UK87	Nonsense_Mutation	SNP	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.E142*	ENST00000543927.1	37	c.424	CCDS14095.1	22	.	.	.	.	.	.	.	.	.	.	C	31	5.058683	0.93846	.	.	ENSG00000130489	ENST00000395693;ENST00000543927;ENST00000535425;ENST00000252785	.	.	.	4.86	3.81	0.43845	.	0.071995	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-31.4614	13.0911	0.59167	0.0:0.8372:0.1627:0.0	.	.	.	.	X	142	.	ENSP00000252785:E142X	E	-	1	0	SCO2	49309283	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.691000	0.47010	1.149000	0.42402	0.563000	0.77884	GAG	SCO2	-	pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	ENSG00000130489		0.622	SCO2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO2	HGNC	protein_coding	OTTHUMT00000317091.1	-	0	46	0	C	NM_005138		50962417	-1	tier1	-	no_errors	ENST00000252785	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	A	A	50962417	C	A	50962417	4	1	47	1	0	0	0	0	0	1	0	0	13977	864	30	3	380	3	SCO2	22	50962417	Nonsense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	234080	50962417	342149	211	11536											
ZNF41	7592	genome.wustl.edu	37	chrX	47308821	47308821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcaaatctctcacagtgGaagaaaattcctccaggaat	15	10	7	9	0	3	2	2	1	1	1	6	4	5	4	2	2	0	0	2	2	5	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:47308821G>T	ENST00000377065.4	-	5	987	c.348C>A	c.(346-348)ttC>ttA	p.F116L	ZNF41_ENST00000397050.2_Missense_Mutation_p.F126L|ZNF41_ENST00000313116.7_Missense_Mutation_p.F116L|ZNF41_ENST00000465311.1_5'UTR	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	158	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TCTCACAGTGGAAGAAAATTC	0.383																																																	0													42	37	39					X																	47308821		2203	4300	6503	SO:0001583	missense	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.348C>A	X.37:g.47308821G>T	ENSP00000366265:p.Phe116Leu		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F126L	ENST00000377065.4	37	c.378	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	G	2.720	-0.266871	0.05754	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.06371	3.31;3.31;3.32;5.96	3.1	1.29	0.21616	.	0.215118	0.23627	N	0.046170	T	0.04679	0.0127	L	0.48642	1.525	0.20975	N	0.999811	B;B;B;B;B	0.15141	0.003;0.003;0.012;0.003;0.001	B;B;B;B;B	0.14578	0.002;0.002;0.011;0.004;0.002	T	0.43540	-0.9385	10	0.13470	T	0.59	.	3.0668	0.06217	0.1513:0.0:0.5817:0.2671	.	116;118;126;150;158	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	L	116;116;126;126	ENSP00000315173:F116L;ENSP00000366265:F116L;ENSP00000380243:F126L;ENSP00000390385:F126L	ENSP00000315173:F116L	F	-	3	2	ZNF41	47193765	0.000000	0.05858	0.453000	0.27007	0.364000	0.29643	-0.044000	0.12023	0.219000	0.20840	0.594000	0.82650	TTC	ZNF41	-	NULL	ENSG00000147124		0.383	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	-	0	22	0	G	NM_153380		47308821	-1	tier1	-	no_errors	ENST00000397050	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.622	T	T	47308821	G	T	47308821	3	4	47	1	0	0	0	0	1	0	0	0	17937	1165	41	3	1995	3	ZNF41	23	47308821	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09		47308821	107961739	212	11537											
PAGE1	8712	genome.wustl.edu	37	chrX	49458733	49458733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctccctcatcctctctCtcttcagcaggtgtagaatc	7	13	7	14	0	4	1	2	0	2	1	9	2	6	1	2	1	2	3	2	1	2	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:49458733C>A	ENST00000376150.3	-	3	267	c.135G>T	c.(133-135)gaG>gaT	p.E45D		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	45					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CATCCTCTCTCTCTTCAGCAG	0.498																																																	0													168	120	137					X																	49458733		2202	4298	6500	SO:0001583	missense	0			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"G antigen, family B, 1 (prostate associated)"	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.135G>T	X.37:g.49458733C>A	ENSP00000365320:p.Glu45Asp		Q6FGM3|Q9BSS7	Missense_Mutation	SNP	pfam_GAGE	p.E45D	ENST00000376150.3	37	c.135	CCDS14327.1	X	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702850	0.30232	.	.	ENSG00000068985	ENST00000376150	T	0.14144	2.53	1.42	1.42	0.22433	.	.	.	.	.	T	0.26557	0.0649	L	0.60067	1.865	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.04900	-1.0919	9	0.54805	T	0.06	.	5.7394	0.18085	0.0:1.0:0.0:0.0	.	45	O75459	GAGB1_HUMAN	D	45	ENSP00000365320:E45D	ENSP00000365320:E45D	E	-	3	2	PAGE1	49345444	0.020000	0.18652	0.002000	0.10522	0.002000	0.02628	1.963000	0.40452	0.987000	0.38709	0.436000	0.28706	GAG	PAGE1	-	pfam_GAGE	ENSG00000068985		0.498	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE1	HGNC	protein_coding	OTTHUMT00000081210.1	-	0	59	0	C			49458733	-1	tier1	-	no_errors	ENST00000376150	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.002	A	A	49458733	C	A	49458733	3	1	47	1	0	0	0	0	1	0	0	0	11428	912	32	3	321	3	PAGE1	23	49458733	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	2149912	49458733	105811827	213	11538											
NLGN3	54413	genome.wustl.edu	37	chrX	70386937	70386937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactaccaaccagtgaagtaCaccagcctgctggcagacaa	15	5	8	13	0	0	2	0	1	0	1	0	2	0	2	4	1	6	3	4	1	6	2			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:70386937C>T	ENST00000358741.3	+	7	1293	c.990C>T	c.(988-990)taC>taT	p.Y330Y	NLGN3_ENST00000374051.3_Silent_p.Y310Y|NLGN3_ENST00000536169.1_Silent_p.Y290Y|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	330					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CAGTGAAGTACACCAGCCTGC	0.542																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													89	70	76					X																	70386937		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.990C>T	X.37:g.70386937C>T			B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.Y330	ENST00000358741.3	37	c.990	CCDS55441.1	X																																																																																			NLGN3	-	pfam_CarbesteraseB	ENSG00000196338		0.542	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1		0	10	0	C	NM_018977		70386937	1			no_errors	ENST00000358741	ensembl	human	known	74_37	silent	15.38	22	4	SNP	1.000	T	T	70386937	C	T	70386937	2	4	47	1	0	0	0	0	0	0	0	1	10502	489	17	3		3	NLGN3	23	70386937	Silent	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	20928204	70386937	84883623	214	11539											
ZMYM3	9203	genome.wustl.edu	37	chrX	70473060	70473060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagccaggggcttctctgGcagggtcaatgggtcaaatg	8	9	14	10	0	3	0	2	0	1	0	5	0	4	0	2	5	1	2	2	5	2	1			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:70473060G>T	ENST00000353904.2	-	2	233	c.46C>A	c.(46-48)Cca>Aca	p.P16T	ZMYM3_ENST00000373981.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373998.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P16T|ZMYM3_ENST00000373982.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P16T|ZMYM3_ENST00000373978.1_Missense_Mutation_p.P16T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P16T	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	16					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGCTTCTCTGGCAGGGTCAAT	0.552											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	29	29					X																	70473060		1990	4157	6147	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.46C>A	X.37:g.70473060G>T	ENSP00000343909:p.Pro16Thr	1122	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.P16T	ENST00000353904.2	37	c.46	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	16.79	3.219566	0.58560	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.64	4.64	0.57946	.	0.000000	0.49916	D	0.000140	T	0.40719	0.1128	N	0.19112	0.55	0.36211	D	0.851342	D;D;D	0.71674	0.998;0.997;0.994	D;D;D	0.78314	0.987;0.991;0.981	T	0.55509	-0.8130	10	0.87932	D	0	-3.7351	15.0413	0.71793	0.0:0.0:1.0:0.0	.	16;16;16	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	T	16	ENSP00000322845:P16T;ENSP00000363110:P16T;ENSP00000343909:P16T;ENSP00000363096:P16T;ENSP00000363100:P16T;ENSP00000363094:P16T;ENSP00000363093:P16T;ENSP00000363090:P16T	ENSP00000322845:P16T	P	-	1	0	ZMYM3	70389785	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.802000	0.69122	1.898000	0.54952	0.287000	0.19450	CCA	ZMYM3	-	NULL	ENSG00000147130		0.552	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0	33	0	G	NM_201599		70473060	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	70473060	G	T	70473060	3	4	47	1	0	0	0	0	1	0	0	0	17749	1203	42	3	4180	3	ZMYM3	23	70473060	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	86123	70473060	84797500	215	11540											
TAF1	6872	genome.wustl.edu	37	chrX	70598241	70598241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagatggcagtgggtttGactatggcttcaaactgaga	11	11	13	6	0	1	4	1	3	0	2	1	5	1	4	0	3	1	3	0	3	3	3			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:70598241G>T	ENST00000373790.4	+	7	1138	c.1087G>T	c.(1087-1089)Gac>Tac	p.D363Y	TAF1_ENST00000449580.1_Missense_Mutation_p.D363Y|TAF1_ENST00000276072.3_Missense_Mutation_p.D384Y|TAF1_ENST00000423759.1_Missense_Mutation_p.D384Y	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	363	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGTGGGTTTGACTATGGCTT	0.448																																																	0													182	151	161					X																	70598241		2203	4300	6503	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1087G>T	X.37:g.70598241G>T	ENSP00000362895:p.Asp363Tyr		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D363Y	ENST00000373790.4	37	c.1087	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	15.78	2.933219	0.52866	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.27	5.27	0.74061	.	0.101965	0.64402	D	0.000003	T	0.54695	0.1874	M	0.64404	1.975	0.49051	D	0.999744	P;P	0.48162	0.848;0.906	B;P	0.46362	0.379;0.514	T	0.61387	-0.7073	10	0.72032	D	0.01	.	18.2069	0.89858	0.0:0.0:1.0:0.0	.	363;384	P21675;P21675-2	TAF1_HUMAN;.	Y	363;363;384;384	ENSP00000362895:D363Y;ENSP00000389000:D363Y;ENSP00000406549:D384Y;ENSP00000276072:D384Y	ENSP00000276072:D384Y	D	+	1	0	TAF1	70514966	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.817000	0.69229	2.324000	0.78689	0.513000	0.50165	GAC	TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.448	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2		0	33	0	G	NM_004606		70598241	1			no_errors	ENST00000449580	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	70598241	G	T	70598241	3	4	47	1	0	0	0	0	1	0	0	0	15560	1290	45	3	1176	3	TAF1	23	70598241	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	125181	70598241	84672319	216	11541											
RGAG4	340526	genome.wustl.edu	37	chrX	71349976	71349976	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacgcgtgaacaaaggtcGgctccatctccatcagctca	11	8	9	13	3	3	2	2	2	1	0	6	2	4	2	2	2	2	2	2	2	2	0			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:71349976G>C	ENST00000545866.1	-	1	1782	c.1415C>G	c.(1414-1416)cCg>cGg	p.P472R	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.P472R	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	472										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AACAAAGGTCGGCTCCATCTC	0.557																																																	0													135	137	136					X																	71349976		2166	4228	6394	SO:0001583	missense	0			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1415C>G	X.37:g.71349976G>C	ENSP00000441366:p.Pro472Arg		A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.P472R	ENST00000545866.1	37	c.1415	CCDS55446.1	X	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648768	0.29336	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.53206	0.63;0.63	3.87	0.912	0.19349	.	.	.	.	.	T	0.27489	0.0675	N	0.19112	0.55	0.09310	N	1	P	0.46621	0.881	B	0.40165	0.321	T	0.09443	-1.0674	8	.	.	.	-0.1933	5.2834	0.15688	0.1108:0.0:0.503:0.3862	.	472	Q5HYW3	RGAG4_HUMAN	R	472	ENSP00000441366:P472R;ENSP00000418667:P472R	.	P	-	2	0	RGAG4	71266701	0.009000	0.17119	0.000000	0.03702	0.196000	0.23810	0.758000	0.26447	0.048000	0.15891	0.500000	0.49745	CCG	RGAG4	-	NULL	ENSG00000242732		0.557	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG4	HGNC	protein_coding	OTTHUMT00000057171.1	-	0	31	0	G	NM_001024455		71349976	-1	tier1	-	no_errors	ENST00000479991	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.003	C	C	71349976	G	C	71349976	3	2	47	1	0	0	0	0	1	0	0	0	13320	1116	39	5	298	5	RGAG4	23	71349976	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	751735	71349976	83920584	217	11542											
TSPAN6	7105	genome.wustl.edu	37	chrX	99887533	99887533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacgactcccatttctgaCtctataatggtcatcacctt	10	13	5	13	1	4	1	2	1	2	0	5	2	5	1	2	1	1	1	2	1	3	4			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:99887533C>G	ENST00000373020.4	-	6	729	c.618G>C	c.(616-618)gaG>gaC	p.E206D	TSPAN6_ENST00000496771.1_5'Flank	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	206					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)	p.E206D(1)		endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CCATTTCTGACTCTATAATGG	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											64	59	61					X																	99887533		2203	4300	6503	SO:0001583	missense	0			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"Tetraspanins"	11858	protein-coding gene	gene with protein product		300191	"transmembrane 4 superfamily member 6"	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.618G>C	X.37:g.99887533C>G	ENSP00000362111:p.Glu206Asp		Q54A42|Q6IAN9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E206D	ENST00000373020.4	37	c.618	CCDS14470.1	X	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982717	0.53827	.	.	ENSG00000000003	ENST00000373020;ENST00000431386	T	0.79749	-1.3	5.5	1.47	0.22746	Tetraspanin, EC2 domain (1);	0.344862	0.36200	N	0.002726	T	0.81950	0.4931	M	0.78344	2.41	0.54753	D	0.999981	B	0.31227	0.314	B	0.42163	0.378	T	0.75611	-0.3258	9	.	.	.	.	9.8988	0.41335	0.0:0.6577:0.0:0.3423	.	206	O43657	TSN6_HUMAN	D	206;188	ENSP00000362111:E206D	.	E	-	3	2	TSPAN6	99774189	0.705000	0.27846	1.000000	0.80357	0.549000	0.35272	-0.159000	0.10056	0.165000	0.19558	0.513000	0.50165	GAG	TSPAN6	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000000003		0.363	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN6	HGNC	protein_coding	OTTHUMT00000057483.1	-	0	97	0	C			99887533	-1	tier1	-	no_errors	ENST00000373020	ensembl	human	known	74_37	missense	7.04	65	5	SNP	1.000	G	G	99887533	C	G	99887533	3	3	47	1	0	0	0	0	1	0	0	0	16699	564	20	5	127	5	TSPAN6	23	99887533	Missense_Mutation	SNP	C	TCGA-KH-A6WC-01A-11D-A33E-09	28537557	99887533	55383027	218	11543											
TBC1D8B	54885	genome.wustl.edu	37	chrX	106109160	106109160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatcacttgttgagtccctgGgctcattctgcaaataaaga	11	13	8	9	0	3	2	2	1	1	1	4	2	4	2	1	1	1	3	1	1	4	5			TCGA-KH-A6WC-01A-11D-A33E-09	TCGA-KH-A6WC-10B-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	176fdb52-294f-4b73-90ba-b4f8e709ed7f	e2bf976d-dd39-49a7-b0bd-84ecf7118a5f	g.chrX:106109160G>T	ENST00000357242.5	+	16	2733	c.2559G>T	c.(2557-2559)tgG>tgT	p.W853C	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.W847C	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	853							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAGTCCCTGGGCTCATTCTG	0.418																																																	0													156	137	144					X																	106109160		2203	4300	6503	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2559G>T	X.37:g.106109160G>T	ENSP00000349781:p.Trp853Cys		B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.W853C	ENST00000357242.5	37	c.2559	CCDS14522.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.963931|3.963931	0.74131|0.74131	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|T;T	.|0.54675	.|0.56;0.56	5.71|5.71	5.71|5.71	0.89125|0.89125	.|EF-hand-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73473|0.73473	0.3591|0.3591	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|P	.|0.62491	.|0.903	T|T	0.78066|0.78066	-0.2349|-0.2349	5|10	.|0.87932	.|D	.|0	-1.7939|-1.7939	17.2863|17.2863	0.87142|0.87142	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|853	.|Q0IIM8	.|TBC8B_HUMAN	C|C	116|853;847;115	.|ENSP00000349781:W853C;ENSP00000276175:W847C	.|ENSP00000276175:W847C	G|W	+|+	1|3	0|0	TBC1D8B|TBC1D8B	105995816|105995816	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.476000|9.476000	0.97823|0.97823	2.400000|2.400000	0.81607|0.81607	0.594000|0.594000	0.82650|0.82650	GGC|TGG	TBC1D8B	-	NULL	ENSG00000133138		0.418	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	HGNC	protein_coding	OTTHUMT00000057807.2	-	0	40	0	G	NM_017752		106109160	1	tier1	-	no_errors	ENST00000357242	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	106109160	G	T	106109160	3	4	47	1	0	0	0	0	1	0	0	0	15673	1241	43	3	2687	3	TBC1D8B	23	106109160	Missense_Mutation	SNP	G	TCGA-KH-A6WC-01A-11D-A33E-09	6221627	106109160	49161400	219	11544											
CDK11B	984	genome.wustl.edu	37	chr1	1575747	1575747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggcgctgctctgcggcgttCcctcacccacttcttcctct	2	12	9	18	3	4	0	1	0	3	0	6	0	6	0	3	2	2	3	3	2	0	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:1575747C>G	ENST00000407249.3	-	12	1150	c.1151G>C	c.(1150-1152)gGa>gCa	p.G384A	CDK11B_ENST00000317673.7_Missense_Mutation_p.G382A|CDK11B_ENST00000341832.6_Missense_Mutation_p.G337A|CDK11B_ENST00000340677.5_Missense_Mutation_p.G371A			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	394	Glu-rich.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTGCGGCGTTCCCTCACCCAC	0.592																																																	0													40	42	42					1																	1575747		1927	4121	6048	SO:0001583	missense	0			AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"Cyclin-dependent kinases"	1729	protein-coding gene	gene with protein product		176873	"cell division cycle 2-like 1 (PITSLRE proteins)"	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.1151G>C	1.37:g.1575747C>G	ENSP00000464036:p.Gly384Ala		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G384A	ENST00000407249.3	37	c.1151		1																																																																																			CDK11B	-	NULL	ENSG00000248333		0.592	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	CDK11B	HGNC	protein_coding			0	88	0	C	NM_001787		1575747	-1			no_errors	ENST00000407249	ensembl	human	known	74_37	missense	9.57	85	9	SNP	1.000	G	G	1575747	C	G	1575747	3	3	48	1	0	0	0	0	1	0	0	0	3134	855	30	5	1246	5	CDK11B	1	1575747	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		1575747	247674874	1	11545											
HSPG2	3339	genome.wustl.edu	37	chr1	22155399	22155399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcacggaaggctccacacCccccaggtagagcagggtgt	9	5	14	13	1	0	1	0	0	0	1	1	2	1	2	4	5	1	4	4	5	2	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:22155399C>G	ENST00000374695.3	-	88	12245	c.12166G>C	c.(12166-12168)Ggt>Cgt	p.G4056R	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4056	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGCTCCACACCCCCCAGGTAG	0.682																																																	0													34	35	35					1																	22155399		2187	4280	6467	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12166G>C	1.37:g.22155399C>G	ENSP00000363827:p.Gly4056Arg		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G4056R	ENST00000374695.3	37	c.12166	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692758	0.88735	.	.	ENSG00000142798	ENST00000374695	D	0.88431	-2.38	5.09	5.09	0.68999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.40222	N	0.001148	D	0.96393	0.8823	H	0.96460	3.825	0.50171	D	0.999857	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97769	1.0225	10	0.87932	D	0	.	17.0573	0.86537	0.0:1.0:0.0:0.0	.	1996;4056	Q59EG0;P98160	.;PGBM_HUMAN	R	4056	ENSP00000363827:G4056R	ENSP00000363827:G4056R	G	-	1	0	HSPG2	22027986	1.000000	0.71417	0.686000	0.30086	0.869000	0.49853	7.279000	0.78599	2.365000	0.80145	0.462000	0.41574	GGT	HSPG2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000142798		0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	55	0	C	NM_005529		22155399	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	G	G	22155399	C	G	22155399	3	3	48	1	0	0	0	0	1	0	0	0	7457	623	22	5	1049	5	HSPG2	1	22155399	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	20579652	22155399	227095222	2	11546											
EPHB2	2048	genome.wustl.edu	37	chr1	23189635	23189635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaccaactgtgtctgccGcaatggctactacagagcag	10	7	11	13	1	1	1	0	0	1	1	1	1	1	1	3	2	5	3	3	2	4	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:23189635G>A	ENST00000400191.3	+	4	935	c.917G>A	c.(916-918)cGc>cAc	p.R306H	EPHB2_ENST00000374630.3_Missense_Mutation_p.R306H|EPHB2_ENST00000465676.1_3'UTR|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374632.3_Missense_Mutation_p.R306H|EPHB2_ENST00000544305.1_Missense_Mutation_p.R306H|EPHB2_ENST00000374627.1_Missense_Mutation_p.R300H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	306	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGTGTCTGCCGCAATGGCTAC	0.602																																																	0													98	90	93					1																	23189635		2203	4300	6503	SO:0001583	missense	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.917G>A	1.37:g.23189635G>A	ENSP00000383053:p.Arg306His		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R306H	ENST00000400191.3	37	c.917		1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663021	0.67700	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	D;D;D;D;D	0.97455	-4.37;-4.35;-4.35;-4.35;-4.39	4.97	4.97	0.65823	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.95519	0.8544	L	0.61387	1.9	0.58432	D	0.999997	B;B;B;B	0.28850	0.225;0.051;0.051;0.085	B;B;B;B	0.25614	0.001;0.035;0.035;0.062	D	0.94145	0.7400	10	0.36615	T	0.2	.	16.9656	0.86285	0.0:0.0:1.0:0.0	.	306;306;324;306	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	H	306;306;306;306;306;300	ENSP00000444174:R306H;ENSP00000363761:R306H;ENSP00000383053:R306H;ENSP00000363763:R306H;ENSP00000363758:R300H	ENSP00000363755:R306H	R	+	2	0	EPHB2	23062222	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.582000	0.87167	0.561000	0.74099	CGC	EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000133216		0.602	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	-	0	59	0	G	NM_017449		23189635	1	tier1	-	no_errors	ENST00000400191	ensembl	human	known	74_37	missense	20.48	66	17	SNP	1.000	A	A	23189635	G	A	23189635	3	1	48	1	0	0	0	0	1	0	0	0	5191	1087	38	1	931	1	EPHB2	1	23189635	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1034236	23189635	226060986	3	11547											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144930990	144930990	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catccaaagattccacagagGaaccaggcgtctcttcctcc	11	8	7	15	1	1	2	0	0	1	2	6	3	5	3	5	2	1	0	5	2	2	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:144930990G>A	ENST00000369354.3	-	6	826				PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.S240F|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S240F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCACAGAGGAACCAGGCGT	0.522			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													133	133	133					1																	144930990		2203	4300	6503	SO:0001627	intron_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.637-7169C>T	1.37:g.144930990G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S240F	ENST00000369354.3	37	c.719	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.924041	0.52653	.	.	ENSG00000178104	ENST00000369353;ENST00000313431;ENST00000529945	T;T	0.18016	2.24;2.25	5.39	5.39	0.77823	.	.	.	.	.	T	0.31327	0.0793	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.03060	-1.1077	9	0.87932	D	0	.	16.6447	0.85173	0.0:0.0:1.0:0.0	.	240	Q5VU43-2	.	F	240	ENSP00000316434:S240F;ENSP00000433392:S240F	ENSP00000316434:S240F	S	-	2	0	PDE4DIP	143642347	1.000000	0.71417	0.938000	0.37757	0.114000	0.19823	8.466000	0.90387	2.529000	0.85273	0.491000	0.48974	TCC	PDE4DIP	-	NULL	ENSG00000178104		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	55	0	G	NM_022359		144930990	-1	tier1	-	no_errors	ENST00000313431	ensembl	human	known	74_37	missense	12.22	79	11	SNP	1.000	A	A	144930990	G	A	144930990	1	1	48	0	1	0	0	0	0	0	0	0	11682	1174	41	3		3	PDE4DIP	1	144930990	Intron	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	121741355	144930990	104319631	4	11548											
FCRL3	115352	genome.wustl.edu	37	chr1	157665905	157665905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacagtagtatctccctgCatcactctccttcacggtga	8	12	7	14	1	4	1	2	1	2	0	6	1	4	1	2	1	2	4	2	1	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:157665905C>T	ENST00000368184.3	-	7	1348	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.A353T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	353	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TATCTCCCTGCATCACTCTCC	0.512																																																	0													140	121	127					1																	157665905		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1057G>A	1.37:g.157665905C>T	ENSP00000357167:p.Ala353Thr		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A353T	ENST00000368184.3	37	c.1057	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717504	0.68844	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.14766	2.48;2.48	5.44	0.33	0.15929	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.610818	0.14415	N	0.321037	T	0.14442	0.0349	M	0.81112	2.525	0.09310	N	1	D;P;D	0.59767	0.986;0.786;0.958	P;P;P	0.62014	0.897;0.874;0.835	T	0.04885	-1.0920	10	0.41790	T	0.15	.	4.1764	0.10353	0.1506:0.5182:0.0:0.3311	.	353;258;353	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	T	353	ENSP00000357169:A353T;ENSP00000357167:A353T	ENSP00000292392:A353T	A	-	1	0	FCRL3	155932529	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.010000	0.12743	-0.188000	0.10499	-0.311000	0.09066	GCA	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160856		0.512	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	36	0	C	NM_052939		157665905	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.000	T	T	157665905	C	T	157665905	3	4	48	1	0	0	0	0	1	0	0	0	5818	710	25	3	1183	3	FCRL3	1	157665905	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	12734915	157665905	91584716	5	11549											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576428	158576428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcttcctttccttcctatCcttctctgagacctgctaca	5	16	3	17	0	2	1	0	1	2	1	7	2	6	1	6	0	2	1	6	0	2	6			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:158576428C>T	ENST00000361284.1	+	1	200	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S67F(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCTTCCTATCCTTCTCTGAG	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											249	244	246					1																	158576428		2203	4300	6503	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.200C>T	1.37:g.158576428C>T	ENSP00000354707:p.Ser67Phe		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S67F	ENST00000361284.1	37	c.200	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641731	0.29157	.	.	ENSG00000198967	ENST00000361284	T	0.12361	2.69	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.184684	0.26800	N	0.022426	T	0.42381	0.1200	H	0.95402	3.665	0.19300	N	0.999971	D	0.76494	0.999	D	0.70716	0.97	T	0.52026	-0.8630	10	0.87932	D	0	.	18.0328	0.89290	0.0:1.0:0.0:0.0	.	67	Q8NGY1	O10Z1_HUMAN	F	67	ENSP00000354707:S67F	ENSP00000354707:S67F	S	+	2	0	OR10Z1	156843052	0.064000	0.20934	0.281000	0.24762	0.012000	0.07955	2.453000	0.44970	2.783000	0.95769	0.655000	0.94253	TCC	OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.532	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	81	0	C	NM_001004478		158576428	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	8.05	137	12	SNP	0.233	T	T	158576428	C	T	158576428	3	4	48	1	0	0	0	0	1	0	0	0	10962	855	30	3	202	3	OR10Z1	1	158576428	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	910523	158576428	90674193	6	11550											
OR6N2	81442	genome.wustl.edu	37	chr1	158746862	158746862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagatgtgtccttgcaGgccaagctcagcaaaggtgg	10	9	13	9	0	1	1	1	0	0	1	2	1	2	1	2	3	4	4	2	3	3	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:158746862G>T	ENST00000339258.1	-	1	563	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TGTCCTTGCAGGCCAAGCTCA	0.413																																																	0													46	45	45					1																	158746862		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"GPCR / Class A : Olfactory receptors"	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.564C>A	1.37:g.158746862G>T			Q6IFR2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A188	ENST00000339258.1	37	c.564	CCDS30906.1	1																																																																																			OR6N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000188340		0.413	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N2	HGNC	protein_coding	OTTHUMT00000059068.1	-	0	13	0	G			158746862	-1	tier1	-	no_errors	ENST00000339258	ensembl	human	known	74_37	silent	21.62	29	8	SNP	0.753	T	T	158746862	G	T	158746862	2	4	48	1	0	0	0	0	0	0	0	1	11246	987	35	3		3	OR6N2	1	158746862	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	170434	158746862	90503759	7	11551											
ADCY10	55811	genome.wustl.edu	37	chr1	167844397	167844397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtaatcctcctttctgttGcagatgaggcacgccatacc	8	11	10	12	1	1	2	0	1	1	1	3	2	3	2	4	2	2	4	4	2	2	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:167844397G>A	ENST00000367851.4	-	13	1618	c.1434C>T	c.(1432-1434)tgC>tgT	p.C478C	ADCY10_ENST00000367848.1_Silent_p.C386C|ADCY10_ENST00000545172.1_Silent_p.C325C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	478					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTTTCTGTTGCAGATGAGGC	0.383																																																	0													107	100	102					1																	167844397		2203	4300	6503	SO:0001819	synonymous_variant	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1434C>T	1.37:g.167844397G>A			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.C478	ENST00000367851.4	37	c.1434	CCDS1265.1	1																																																																																			ADCY10	-	superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.383	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0	37	0	G	NM_018417		167844397	-1	tier1	-	no_errors	ENST00000367851	ensembl	human	known	74_37	silent	16.28	35	7	SNP	0.850	A	A	167844397	G	A	167844397	2	1	48	1	0	0	0	0	0	0	0	1	293	1311	46	3		3	ADCY10	1	167844397	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	9097535	167844397	81406224	8	11552											
CENPL	91687	genome.wustl.edu	37	chr1	173776414	173776414	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtattatacctggacaagAaatgcttccgggtccctttg	10	13	9	9	1	0	1	0	0	0	1	2	2	2	2	3	2	2	2	3	2	5	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:173776414A>T	ENST00000345664.6	-	3	624	c.411T>A	c.(409-411)ttT>ttA	p.F137L	CENPL_ENST00000356198.2_Missense_Mutation_p.F137L|Y_RNA_ENST00000516548.1_RNA|CENPL_ENST00000367710.3_Missense_Mutation_p.F137L	NM_001171182.1	NP_001164653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	137					mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CCTGGACAAGAAATGCTTCCG	0.348																																																	0													56	61	59					1																	173776414		2203	4300	6503	SO:0001583	missense	0			BC033154, BC019022, AK055606	CCDS30938.1, CCDS44277.1	1q25.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000120334	ENSG00000120334			17879	protein-coding gene	gene with protein product		611503	"chromosome 1 open reading frame 155"	C1orf155		16622420, 16622419	Standard	NM_033319		Approved	dJ383J4.3, FLJ31044	uc001gje.4	Q8N0S6	OTTHUMG00000034802	ENST00000345664.6:c.411T>A	1.37:g.173776414A>T	ENSP00000323543:p.Phe137Leu		Q5TEL5|Q96ND4	Missense_Mutation	SNP	NULL	p.F137L	ENST00000345664.6	37	c.411	CCDS30938.1	1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.234414	0.22626	.	.	ENSG00000120334	ENST00000356198;ENST00000345664;ENST00000367710	T;T;T	0.39406	2.01;1.08;1.08	5.87	3.52	0.40303	.	0.249934	0.40554	N	0.001070	T	0.16300	0.0392	L	0.57536	1.79	0.80722	D	1	B;B	0.13594	0.008;0.0	B;B	0.08055	0.003;0.001	T	0.06807	-1.0806	10	0.18710	T	0.47	-11.485	6.2549	0.20867	0.7205:0.1363:0.1431:0.0	.	137;137	Q8N0S6-2;Q8N0S6	.;CENPL_HUMAN	L	137	ENSP00000348527:F137L;ENSP00000323543:F137L;ENSP00000356683:F137L	ENSP00000323543:F137L	F	-	3	2	CENPL	172043037	0.998000	0.40836	1.000000	0.80357	0.872000	0.50106	0.613000	0.24299	0.533000	0.28675	-0.274000	0.10170	TTT	CENPL	-	NULL	ENSG00000120334		0.348	CENPL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPL	HGNC	protein_coding	OTTHUMT00000084213.1	-	0	65	0	A	NM_033319		173776414	-1	tier1	-	no_errors	ENST00000356198	ensembl	human	known	74_37	missense	24.71	64	21	SNP	1.000	T	T	173776414	A	T	173776414	3	4	48	1	0	0	0	0	1	0	0	0	3243	243	9	5	777	5	CENPL	1	173776414	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	5932017	173776414	75474207	9	11553											
FAM5C	339479	genome.wustl.edu	37	chr1	190423854	190423854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctgtgtattcctgtgagCgatggaagggtcccttatca	9	13	11	8	1	2	1	1	1	1	0	4	3	4	2	2	2	1	1	2	2	4	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:190423854C>T	ENST00000367462.3	-	2	398	c.167G>A	c.(166-168)cGc>cAc	p.R56H	BRINP3_ENST00000534846.1_Missense_Mutation_p.A18T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	56					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TTCCTGTGAGCGATGGAAGGG	0.478																																																	0													88	86	87					1																	190423854		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.167G>A	1.37:g.190423854C>T	ENSP00000356432:p.Arg56His		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R56H	ENST00000367462.3	37	c.167	CCDS1373.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.33|15.33	2.801559|2.801559	0.50315|0.50315	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000534846|ENST00000367462;ENST00000445957	T|D;T	0.17528|0.84730	2.27|-1.89;0.73	5.42|5.42	4.51|4.51	0.55191|0.55191	.|Membrane attack complex component/perforin (MACPF) domain (1);	.|0.060658	.|0.64402	.|D	.|0.000002	T|T	0.68458|0.68458	0.3003|0.3003	N|N	0.12471|0.12471	0.22|0.22	0.21473|0.21473	N|N	0.999675|0.999675	B|B	0.06786|0.06786	0.001|0.001	B|B	0.04013|0.04013	0.001|0.001	T|T	0.51647|0.51647	-0.8679|-0.8679	9|10	0.52906|0.13470	T|T	0.07|0.59	.|.	8.3132|8.3132	0.32084|0.32084	0.0:0.8231:0.0:0.1769|0.0:0.8231:0.0:0.1769	.|.	18|56	B7Z260|Q76B58	.|FAM5C_HUMAN	T|H	18|56	ENSP00000438022:A18T|ENSP00000356432:R56H;ENSP00000393441:R56H	ENSP00000438022:A18T|ENSP00000356432:R56H	A|R	-|-	1|2	0|0	FAM5C|FAM5C	188690477|188690477	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.050000|3.050000	0.49877|0.49877	1.295000|1.295000	0.44724|0.44724	-0.136000|-0.136000	0.14681|0.14681	GCT|CGC	BRINP3	-	pfam_MACPF	ENSG00000162670		0.478	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1		0	24	0	C	NM_199051		190423854	-1			no_errors	ENST00000367462	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	190423854	C	T	190423854	3	4	48	1	0	0	0	0	1	0	0	0	5616	768	27	1	2161	1	FAM5C	1	190423854	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	16647440	190423854	58826767	10	11554											
CACNA1S	779	genome.wustl.edu	37	chr1	201021764	201021764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccatccaccaaggcgaTcttcccaaacatctgcaagt	11	8	7	15	1	2	0	0	0	2	0	5	1	5	0	4	2	2	1	4	2	3	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:201021764T>C	ENST00000362061.3	-	32	4100	c.3874A>G	c.(3874-3876)Atc>Gtc	p.I1292V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1273V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1292					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCAAGGCGATCTTCCCAAAC	0.557																																																	0													229	195	206					1																	201021764		2203	4300	6503	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3874A>G	1.37:g.201021764T>C	ENSP00000355192:p.Ile1292Val		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.I1292V	ENST00000362061.3	37	c.3874	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.521978	0.44866	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98400	-4.91;-4.91	4.55	4.55	0.56014	Ion transport (1);	0.058274	0.64402	D	0.000002	D	0.95746	0.8616	N	0.20445	0.575	0.46222	D	0.998936	B	0.27286	0.174	B	0.38225	0.268	D	0.94013	0.7286	10	0.25751	T	0.34	.	14.2026	0.65714	0.0:0.0:0.0:1.0	.	1292	Q13698	CAC1S_HUMAN	V	1292;1273	ENSP00000355192:I1292V;ENSP00000356307:I1273V	ENSP00000355192:I1292V	I	-	1	0	CACNA1S	199288387	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	2.205000	0.42770	1.813000	0.52934	0.372000	0.22366	ATC	CACNA1S	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000081248		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0	47	0	T	NM_000069		201021764	-1	tier1	-	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	C	C	201021764	T	C	201021764	3	2	48	1	0	0	0	0	1	0	0	0	2554	1435	50	4	1799	4	CACNA1S	1	201021764	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	10597910	201021764	48228857	11	11555											
LGR6	59352	genome.wustl.edu	37	chr1	202245467	202245467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctcatctccctggtcccGgagaggagctttgaggggct	7	9	13	12	1	2	2	1	1	1	1	4	4	3	3	3	5	2	2	3	5	1	1	rs201050220		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:202245467G>A	ENST00000367278.3	+	5	551	c.462G>A	c.(460-462)ccG>ccA	p.P154P	LGR6_ENST00000255432.7_Silent_p.P102P|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	154					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCCTGGTCCCGGAGAGGAGCT	0.617													G|||	1	0.000199681	0	0	5008	,	,		18987	0.001		0	False		,,,				2504	0																0								G	,,	1,4405	2.1+/-5.4	0,1,2202	69	64	66		462,,306	0.6	1	1		66	0,8600		0,0,4300	no	coding-synonymous,intron,coding-synonymous	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	154/968,,102/916	202245467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.462G>A	1.37:g.202245467G>A			Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.P154	ENST00000367278.3	37	c.462	CCDS30971.1	1																																																																																			LGR6	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133067		0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1		0	26	0	G	NM_021636		202245467	1			no_errors	ENST00000367278	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.959	A	A	202245467	G	A	202245467	2	1	48	1	0	0	0	0	0	0	0	1	8787	1103	39	1		1	LGR6	1	202245467	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1223703	202245467	47005154	12	11556											
SOX13	9580	genome.wustl.edu	37	chr1	204085774	204085774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttgagaagcagcagcaGcagatggagcttgcccggca	10	7	14	10	1	0	2	0	1	0	2	0	4	0	3	1	2	6	7	1	2	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:204085774G>T	ENST00000367204.1	+	5	667	c.558G>T	c.(556-558)caG>caT	p.Q186H	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	186	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAGCAGCAGCAGATGGAGC	0.577																																																	0													53	59	57					1																	204085774		2077	4225	6302	SO:0001583	missense	0				CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"SRY (sex determining region Y)-boxes"	11192	protein-coding gene	gene with protein product	"islet cell antibody 12", "SRY-related HMG-box gene 13", "type 1 diabetes autoantigen", "SRY-box 13"	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.558G>T	1.37:g.204085774G>T	ENSP00000356172:p.Gln186His		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q186H	ENST00000367204.1	37	c.558	CCDS44299.1	1	.	.	.	.	.	.	.	.	.	.	g	17.61	3.433539	0.62955	.	.	ENSG00000143842	ENST00000367204	D	0.98550	-4.99	5.21	2.25	0.28309	.	0.054484	0.85682	D	0.000000	D	0.98560	0.9519	M	0.81341	2.54	0.39690	D	0.971031	D;D;D;D	0.76494	0.998;0.998;0.998;0.999	D;D;D;D	0.85130	0.993;0.993;0.993;0.997	D	0.98886	1.0771	10	0.87932	D	0	.	9.553	0.39321	0.302:0.0:0.698:0.0	.	53;54;186;168	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	H	186	ENSP00000356172:Q186H	ENSP00000356172:Q186H	Q	+	3	2	SOX13	202352397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.062000	0.30555	0.569000	0.29329	-0.119000	0.15052	CAG	SOX13	-	NULL	ENSG00000143842		0.577	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX13	HGNC	protein_coding	OTTHUMT00000087881.2		0	33	0	G	NM_005686		204085774	1			no_errors	ENST00000367204	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	204085774	G	T	204085774	3	4	48	1	0	0	0	0	1	0	0	0	14989	962	34	3	572	3	SOX13	1	204085774	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1840307	204085774	45164847	13	11557											
TTC13	79573	genome.wustl.edu	37	chr1	231076236	231076237	+	Missense_Mutation	DNP	GC	GC	AT																															tctgtacagccgtgctgaggGctgcagttggatagctttag																								rs375164285		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:231076236_231076237GC>AT	ENST00000366661.4	-	7	745_746	c.738_739GC>AT	c.(736-741)caGCcc>caATcc	p.P247S	TTC13_ENST00000366662.4_Missense_Mutation_p.P194S|TTC13_ENST00000414259.1_Missense_Mutation_p.P194S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	247										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CGTGCTGAGGGCTGCAGTTGGA	0.421																																																	0																																										SO:0001583	missense	0				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"Tetratricopeptide (TTC) repeat domain containing"	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.738_739delinsAT	1.37:g.231076236_231076237delinsAT	ENSP00000355621:p.Pro247Ser		B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation|Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P247S|p.Q246	ENST00000366661.4	37	c.739|c.738	CCDS1588.1	1																																																																																			TTC13	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000143643		0.421	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC13	HGNC	protein_coding	OTTHUMT00000092229.2	-	0	38	0	G|C	NM_024525		231076236|231076237	-1	tier1	-	no_errors	ENST00000366661	ensembl	human	known	74_37	missense|silent	21.82|20.00	43|44	12|11	SNP	1.000	A|T	AT	231076237	GC	AT	231076236	3	1	48	1	0	0	0	0	1	0	0	0	16729	1203	42	3	1911	3	TTC13	1	231076236	Missense_Mutation	DNP	GC	TCGA-L5-A43C-01A-11D-A247-09	26990462	231076236	18174385	14	11558											
DISC1	27185	genome.wustl.edu	37	chr1	231830164	231830164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctctcgcttggctctgcCggggaacgtggagaagcaga	7	7	16	11	4	2	2	0	0	2	2	3	4	2	3	1	5	3	4	1	5	2	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr1:231830164C>T	ENST00000602281.1	+	2	713	c.660C>T	c.(658-660)gcC>gcT	p.A220A	DISC1_ENST00000537876.1_Silent_p.A220A|DISC1_ENST00000539444.1_Silent_p.A220A|DISC1_ENST00000366633.3_Silent_p.A220A|DISC1_ENST00000366636.4_Silent_p.A220A|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Silent_p.A220A|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Silent_p.A220A|DISC1_ENST00000439617.2_Silent_p.A220A	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	220	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TTGGCTCTGCCGGGGAACGTG	0.622																																																	0													45	45	45					1																	231830164		2203	4300	6503	SO:0001819	synonymous_variant	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.660C>T	1.37:g.231830164C>T			A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	superfamily_Prefoldin	p.A220	ENST00000602281.1	37	c.660	CCDS59205.1	1																																																																																			DISC1	-	NULL	ENSG00000162946		0.622	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	-	0	28	0	C	NM_018662		231830164	1	tier1	-	no_errors	ENST00000439617	ensembl	human	known	74_37	silent	20.83	19	5	SNP	0.214	T	T	231830164	C	T	231830164	2	4	48	1	0	0	0	0	0	0	0	1	4552	639	23	1		1	DISC1	1	231830164	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	753928	231830164	17420457	15	11559											
PXDN	7837	genome.wustl.edu	37	chr2	1652754	1652754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgccgcagcaggccgCggtggctggccaggtcgcgg	3	5	18	15	5	0	0	0	0	0	0	1	0	0	0	4	6	3	3	4	6	0	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:1652754C>T	ENST00000252804.4	-	17	2848	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	933					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCAGGCCGCGGTGGCTGGC	0.692																																																	0													16	17	16					2																	1652754		1758	3768	5526	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2798G>A	2.37:g.1652754C>T	ENSP00000252804:p.Arg933His		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.R933H	ENST00000252804.4	37	c.2798	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631184	0.87660	.	.	ENSG00000130508	ENST00000252804	T	0.69175	-0.38	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.79082	0.4386	L	0.60067	1.865	0.53005	D	0.999968	D	0.69078	0.997	D	0.65140	0.932	T	0.77070	-0.2724	10	0.42905	T	0.14	-44.0952	19.8119	0.96549	0.0:1.0:0.0:0.0	.	933	Q92626	PXDN_HUMAN	H	933	ENSP00000252804:R933H	ENSP00000252804:R933H	R	-	2	0	PXDN	1631761	0.990000	0.36364	0.666000	0.29783	0.991000	0.79684	6.011000	0.70760	2.683000	0.91414	0.558000	0.71614	CGC	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	53	0	C	XM_056455		1652754	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	21.57	40	11	SNP	0.813	T	T	1652754	C	T	1652754	3	4	48	1	0	0	0	0	1	0	0	0	12892	768	27	1	1669	1	PXDN	2	1652754	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		1652754	241546619	16	11560											
TSSC1	7260	genome.wustl.edu	37	chr2	3358353	3358353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaagagactgcgtcccaaCcaaaaaccgaatggcatctg	14	8	8	11	2	1	1	0	0	1	1	2	3	2	1	3	1	3	1	3	1	5	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:3358353C>A	ENST00000382125.4	-	2	286	c.94G>T	c.(94-96)Gtt>Ttt	p.V32F	TSSC1_ENST00000398659.4_Missense_Mutation_p.V32F|TSSC1_ENST00000443925.2_Missense_Mutation_p.V32F	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	32										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TGCGTCCCAACCAAAAACCGA	0.353																																					Colon(140;1261 1762 4183 34270 49743)												0													91	89	90					2																	3358353		2203	4300	6503	SO:0001583	missense	0			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"WD repeat domain containing"	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.94G>T	2.37:g.3358353C>A	ENSP00000371559:p.Val32Phe		D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V32F	ENST00000382125.4	37	c.94	CCDS1651.1	2	.	.	.	.	.	.	.	.	.	.	c	20.9	4.064892	0.76187	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925;ENST00000444776	D;D	0.87334	-2.21;-2.24	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);	0.133807	0.49916	D	0.000136	D	0.91991	0.7463	M	0.75777	2.31	0.80722	D	1	D	0.65815	0.995	P	0.62298	0.9	D	0.92948	0.6378	10	0.87932	D	0	-0.0278	15.0171	0.71594	0.0:1.0:0.0:0.0	.	32	Q53HC9	TSSC1_HUMAN	F	32	ENSP00000371559:V32F;ENSP00000381652:V32F	ENSP00000371559:V32F	V	-	1	0	TSSC1	3337360	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.132000	0.71676	2.478000	0.83669	0.558000	0.71614	GTT	TSSC1	-	NULL	ENSG00000032389		0.353	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	-	0	42	0	C	NM_003310		3358353	-1	tier1	-	no_errors	ENST00000382125	ensembl	human	known	74_37	missense	25.58	64	22	SNP	1.000	A	A	3358353	C	A	3358353	3	1	48	1	0	0	0	0	1	0	0	0	16714	507	18	3	1101	3	TSSC1	2	3358353	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	1705599	3358353	239841020	17	11561											
DNMT3A	1788	genome.wustl.edu	37	chr2	25462040	25462040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaagtagcgggccctGtgtgcagctgacacttcttt	7	10	11	13	1	1	2	0	1	1	1	1	2	1	2	3	1	3	3	3	1	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:25462040G>A	ENST00000264709.3	-	20	2704	c.2367C>T	c.(2365-2367)caC>caT	p.H789H	DNMT3A_ENST00000321117.5_Silent_p.H789H|DNMT3A_ENST00000402667.1_Silent_p.H566H|DNMT3A_ENST00000380746.4_Silent_p.H600H|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	789	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCGGGCCCTGTGTGCAGCTG	0.572			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													70	62	65					2																	25462040		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2367C>T	2.37:g.25462040G>A			E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.H789	ENST00000264709.3	37	c.2367	CCDS33157.1	2																																																																																			DNMT3A	-	NULL	ENSG00000119772		0.572	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	-	0	38	0	G	NM_022552		25462040	-1	tier1	-	no_errors	ENST00000264709	ensembl	human	known	74_37	silent	20.00	44	11	SNP	1.000	A	A	25462040	G	A	25462040	2	1	48	1	0	0	0	0	0	0	0	1	4690	1368	48	3		3	DNMT3A	2	25462040	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	22103687	25462040	217737333	18	11562											
SRBD1	55133	genome.wustl.edu	37	chr2	45807093	45807093	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggctgctccttctaaGcccaactgtcttgctctctg	4	13	8	16	0	3	0	0	0	3	0	5	0	4	0	3	1	4	3	3	1	2	3	rs377242238		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:45807093G>T	ENST00000263736.4	-	7	1055	c.993C>A	c.(991-993)ggC>ggA	p.G331G		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	331					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCCTTCTAAGCCCAACTGTC	0.428																																																	0													156	148	151					2																	45807093		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.993C>A	2.37:g.45807093G>T			Q53T56|Q96TA4|Q9NW11	Silent	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.G331	ENST00000263736.4	37	c.993	CCDS1823.1	2																																																																																			SRBD1	-	pfam_Tex-like_N	ENSG00000068784		0.428	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	-	0	35	0	G	NM_018079		45807093	-1	tier1	-	no_errors	ENST00000263736	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	45807093	G	T	45807093	2	4	48	1	0	0	0	0	0	0	0	1	15180	958	34	3		3	SRBD1	2	45807093	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	20345053	45807093	197392280	19	11563											
CCDC85A	114800	genome.wustl.edu	37	chr2	56420101	56420101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagcacaggagcgccagcCccgagcatccacagaaaccc	13	1	9	18	2	0	1	0	0	0	1	1	3	1	2	6	1	5	2	6	1	2	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:56420101C>T	ENST00000407595.2	+	2	1268	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	256	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGCGCCAGCCCCGAGCATCC	0.657																																																	0													29	44	39					2																	56420101		2023	4200	6223	SO:0001583	missense	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.766C>T	2.37:g.56420101C>T	ENSP00000384040:p.Pro256Ser			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.P256S	ENST00000407595.2	37	c.766	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224058	0.79576	.	.	ENSG00000055813	ENST00000407595	T	0.47869	0.83	5.08	5.08	0.68730	.	0.187892	0.48286	D	0.000192	T	0.57946	0.2088	L	0.57536	1.79	0.80722	D	1	D	0.58620	0.983	P	0.55508	0.777	T	0.52290	-0.8595	10	0.15499	T	0.54	-19.4016	18.4789	0.90804	0.0:1.0:0.0:0.0	.	256	Q96PX6	CC85A_HUMAN	S	256	ENSP00000384040:P256S	ENSP00000384040:P256S	P	+	1	0	CCDC85A	56273605	1.000000	0.71417	0.999000	0.59377	0.900000	0.52787	7.400000	0.79949	2.356000	0.79943	0.591000	0.81541	CCC	CCDC85A	-	NULL	ENSG00000055813		0.657	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	-	0	45	0	C			56420101	1	tier1	-	no_errors	ENST00000407595	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	T	T	56420101	C	T	56420101	3	4	48	1	0	0	0	0	1	0	0	0	2866	623	22	3	772	3	CCDC85A	2	56420101	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	10613008	56420101	186779272	20	11564											
RETSAT	54884	genome.wustl.edu	37	chr2	85578038	85578038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttccagtaccatgatGtcaaaaggagaggacagggg	12	6	14	9	0	1	2	1	1	0	1	2	4	2	3	3	5	1	1	3	5	3	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:85578038G>T	ENST00000295802.4	-	3	574	c.462C>A	c.(460-462)gaC>gaA	p.D154E	RETSAT_ENST00000263854.6_Missense_Mutation_p.D154E|RETSAT_ENST00000457495.2_Missense_Mutation_p.D93E	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	154					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTACCATGATGTCAAAAGGAG	0.532																																																	0													79	73	75					2																	85578038		2203	4300	6503	SO:0001583	missense	0			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.462C>A	2.37:g.85578038G>T	ENSP00000295802:p.Asp154Glu		A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd	p.D154E	ENST00000295802.4	37	c.462	CCDS1972.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.401560|4.401560	0.83120|0.83120	.|.	.|.	ENSG00000042445|ENSG00000042445	ENST00000295802;ENST00000263854;ENST00000457495|ENST00000409984	T;T;T|.	0.61627|.	0.09;0.09;0.09|.	5.92|5.92	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74397|0.74397	0.3711|0.3711	M|M	0.85710|0.85710	2.77|2.77	0.49389|0.49389	D|D	0.999781|0.999781	D;D|.	0.69078|.	0.997;0.995|.	D;D|.	0.72075|.	0.976;0.922|.	T|T	0.76130|0.76130	-0.3072|-0.3072	9|5	.|.	.|.	.|.	-29.5616|-29.5616	8.3065|8.3065	0.32045|0.32045	0.1904:0.0:0.8096:0.0|0.1904:0.0:0.8096:0.0	.|.	93;154|.	G5E9N3;Q6NUM9|.	.;RETST_HUMAN|.	E|K	154;154;93|93	ENSP00000295802:D154E;ENSP00000263854:D154E;ENSP00000405040:D93E|.	.|.	D|T	-|-	3|2	2|0	RETSAT|RETSAT	85431549|85431549	0.643000|0.643000	0.27269|0.27269	0.940000|0.940000	0.37924|0.37924	0.989000|0.989000	0.77384|0.77384	0.927000|0.927000	0.28818|0.28818	1.386000|1.386000	0.46466|0.46466	0.655000|0.655000	0.94253|0.94253	GAC|ACA	RETSAT	-	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase	ENSG00000042445		0.532	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RETSAT	HGNC	protein_coding	OTTHUMT00000252489.1	-	0	42	0	G	NM_017750		85578038	-1	tier1	-	no_errors	ENST00000295802	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.995	T	T	85578038	G	T	85578038	3	4	48	1	0	0	0	0	1	0	0	0	13283	1368	48	3	1406	3	RETSAT	2	85578038	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	29157937	85578038	157621335	21	11565											
GPAT2	150763	genome.wustl.edu	37	chr2	96689748	96689748	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagtaggaagactggcaggGctgggagaaaaaggcaccca	14	3	16	8	0	0	2	0	0	0	2	0	4	0	3	1	5	0	5	1	5	4	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:96689748G>A	ENST00000434632.1	-	18	2278	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000453542.1_Splice_Site_p.P536S|GPAT2_ENST00000359548.4_Splice_Site_p.P607S|GPAT2_ENST00000377137.3_Splice_Site_p.P607S			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	607					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GACTGGCAGGGCTGGGAGAAA	0.612																																																	0													17	18	18					2																	96689748		1902	4102	6004	SO:0001630	splice_region_variant	0			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1819-1C>T	2.37:g.96689748G>A			Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	smart_Plipid/glycerol_acylTrfase	p.P607S	ENST00000434632.1	37	c.1819	CCDS42714.1	2	.	.	.	.	.	.	.	.	.	.	g	20.2	3.945175	0.73672	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	D;D;T;D	0.87334	-2.24;-2.24;-1.42;-2.19	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.92140	0.7508	M	0.65975	2.015	0.50467	D	0.999878	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.996	D;D;D;D;D	0.97110	0.994;0.999;1.0;0.999;0.985	D	0.92843	0.6290	10	0.87932	D	0	.	13.7077	0.62651	0.0:0.0:1.0:0.0	.	536;607;613;607;536	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	S	607;607;536;607	ENSP00000352547:P607S;ENSP00000389395:P607S;ENSP00000393770:P536S;ENSP00000366341:P607S	ENSP00000352547:P607S	P	-	1	0	GPAT2	96053475	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	6.752000	0.74898	2.316000	0.78162	0.637000	0.83480	CCC	GPAT2	-	NULL	ENSG00000186281		0.612	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAT2	HGNC	protein_coding	OTTHUMT00000338786.1	-	0	52	0	G	NM_207328	Missense_Mutation	96689748	-1	tier1	-	no_errors	ENST00000359548	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	A	A	96689748	G	A	96689748	5	1	48	1	0	0	0	0	0	0	1	0	6615	1217	42	3	592	3	GPAT2	2	96689748	Splice_Site	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	11111710	96689748	146509625	22	11566											
ANKRD36	375248	genome.wustl.edu	37	chr2	97847489	97847489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagaaagattctgtttcaaAtatagccacagaaataaaga	19	9	7	6	1	2	4	1	0	1	4	2	5	2	4	1	0	1	1	1	0	7	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:97847489A>G	ENST00000461153.2	+	26	2040	c.1796A>G	c.(1795-1797)aAt>aGt	p.N599S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.N599S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	599										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTGTTTCAAATATAGCCACA	0.323																																																	0																																										SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1796A>G	2.37:g.97847489A>G	ENSP00000419530:p.Asn599Ser		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N599S	ENST00000461153.2	37	c.1796	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	4.737	0.137106	0.09032	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.76448	-1.02;-1.02	1.25	-1.48	0.08745	.	.	.	.	.	T	0.79185	0.4403	L	0.42245	1.32	0.09310	N	1	B;D	0.67145	0.01;0.996	B;D	0.77557	0.004;0.99	T	0.66528	-0.5901	9	0.72032	D	0.01	.	4.2831	0.10841	0.4981:0.0:0.5019:0.0	.	599;66	A6QL64;Q5JPF3-3	AN36A_HUMAN;.	S	599	ENSP00000419530:N599S;ENSP00000391950:N599S	ENSP00000391950:N599S	N	+	2	0	ANKRD36	97211216	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.091000	0.15046	-0.467000	0.06932	0.155000	0.16302	AAT	ANKRD36	-	NULL	ENSG00000135976		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	93	0	A			97847489	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	10.49	128	15	SNP	0.000	G	G	97847489	A	G	97847489	3	3	48	1	0	0	0	0	1	0	0	0	665	101	4	4	1898	4	ANKRD36	2	97847489	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	1157741	97847489	145351884	23	11567											
CLASP1	23332	genome.wustl.edu	37	chr2	122104699	122104699	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaagcaaaacacgctggccTtacgcacactactttcggtg	11	9	8	13	3	0	0	0	0	0	0	1	0	0	0	1	2	4	3	1	2	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:122104699T>G	ENST00000263710.4	-	39	4834	c.4445A>C	c.(4444-4446)aAg>aCg	p.K1482T	CLASP1_ENST00000541859.1_Missense_Mutation_p.K1199T|CLASP1_ENST00000397587.3_Missense_Mutation_p.K1422T|CLASP1_ENST00000545861.1_Missense_Mutation_p.K1189T|CLASP1_ENST00000409078.3_Missense_Mutation_p.K1415T|CLASP1_ENST00000541377.1_Missense_Mutation_p.K1421T|CLASP1_ENST00000455322.2_Missense_Mutation_p.K1438T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1482	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CACGCTGGCCTTACGCACACT	0.453																																																	0													86	82	83					2																	122104699		2041	4186	6227	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4445A>C	2.37:g.122104699T>G	ENSP00000263710:p.Lys1482Thr		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K1482T	ENST00000263710.4	37	c.4445		2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061175	0.76187	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.991;0.997;0.996	D	0.87282	0.2293	10	0.87932	D	0	-23.7129	14.3424	0.66636	0.0:0.0:0.0:1.0	.	1415;1422;1482	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	T	1482;1438;1422;1421;1199;1415;1189	ENSP00000263710:K1482T;ENSP00000389372:K1438T;ENSP00000380717:K1422T;ENSP00000441625:K1421T;ENSP00000441770:K1199T;ENSP00000386442:K1415T;ENSP00000438620:K1189T	ENSP00000263710:K1482T	K	-	2	0	CLASP1	121821169	1.000000	0.71417	0.993000	0.49108	0.360000	0.29518	7.717000	0.84732	2.127000	0.65507	0.459000	0.35465	AAG	CLASP1	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000074054		0.453	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0	42	0	T	NM_015282		122104699	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	G	G	122104699	T	G	122104699	3	3	48	1	0	0	0	0	1	0	0	0	3461	1609	56	4	179	4	CLASP1	2	122104699	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	24257210	122104699	121094674	24	11568											
MSTN	2660	genome.wustl.edu	37	chr2	190922360	190922360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttgacctctaaaaacGgattctgtttgaaaaggaaa	15	12	7	7	1	2	2	0	2	2	0	2	4	2	4	2	2	2	1	2	2	7	5	rs567560486		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:190922360G>T	ENST00000260950.4	-	3	884	c.752C>A	c.(751-753)cCg>cAg	p.P251Q	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	251					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTCTAAAAACGGATTCTGTTT	0.368																																																	0													64	59	61					2																	190922360		2203	4299	6502	SO:0001583	missense	0			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.752C>A	2.37:g.190922360G>T	ENSP00000260950:p.Pro251Gln		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.P251Q	ENST00000260950.4	37	c.752	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724970	0.68959	.	.	ENSG00000138379	ENST00000260950	T	0.77358	-1.09	5.5	5.5	0.81552	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88179	0.6367	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88658	0.3187	10	0.87932	D	0	-7.5107	19.7537	0.96281	0.0:0.0:1.0:0.0	.	251	O14793	GDF8_HUMAN	Q	251	ENSP00000260950:P251Q	ENSP00000260950:P251Q	P	-	2	0	MSTN	190630605	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.813000	0.99286	2.736000	0.93811	0.591000	0.81541	CCG	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.368	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2		0	21	0	G	NM_005259		190922360	-1			no_errors	ENST00000260950	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	190922360	G	T	190922360	3	4	48	1	0	0	0	0	1	0	0	0	9931	1116	39	2	379	2	MSTN	2	190922360	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	68817661	190922360	52277013	25	11569											
HECW2	57520	genome.wustl.edu	37	chr2	197080605	197080605	+	Frame_Shift_Del	DEL	T	T	-																															ttacctgggaagagcagtgaTtttcccccatttctccacac																										TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:197080605delT	ENST00000260983.3	-	28	4773	c.4591delA	c.(4591-4593)atcfs	p.I1531fs	snoU13_ENST00000459047.1_RNA|HECW2_ENST00000409111.1_Frame_Shift_Del_p.I1175fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1531	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGCAGTGATTTTCCCCCAT	0.383																																																	0													76	76	76					2																	197080605		2203	4300	6503	SO:0001589	frameshift_variant	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.4591delA	2.37:g.197080605delT	ENSP00000260983:p.Ile1531fs		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Frame_Shift_Del	DEL	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.I1531fs	ENST00000260983.3	37	c.4591	CCDS33354.1	2																																																																																			HECW2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000138411		0.383	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0	23	0	T	NM_020760		197080605	-1	tier1		no_errors	ENST00000260983	ensembl	human	known	74_37	frame_shift_del	18.37	40	9	DEL	1.000	-	-	197080605	T	-	197080605	7	5	48	1	0	1	0	1	0	0	0	0	7070	1493	52	0	135	0	HECW2	2	197080605	Frame_Shift_Del	DEL	T	TCGA-L5-A43C-01A-11D-A247-09	6158245	197080605	46118768	26	11570											
RAPH1	65059	genome.wustl.edu	37	chr2	204354324	204354324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcagtaattggctgccCttgatgtgtcaaatccagct	9	13	8	11	0	2	1	2	1	0	0	3	1	3	1	3	1	3	3	3	1	3	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:204354324C>A	ENST00000319170.5	-	4	1014	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	RAPH1_ENST00000308091.4_Missense_Mutation_p.G239W|RAPH1_ENST00000457812.1_Missense_Mutation_p.G239W|RAPH1_ENST00000418114.1_Missense_Mutation_p.G239W|RAPH1_ENST00000374489.2_Missense_Mutation_p.G239W|RAPH1_ENST00000374493.3_Missense_Mutation_p.G239W|RAPH1_ENST00000419464.1_Missense_Mutation_p.G239W|RAPH1_ENST00000453034.1_Missense_Mutation_p.G239W|RAPH1_ENST00000374488.2_Missense_Mutation_p.G239W|RAPH1_ENST00000423104.1_Missense_Mutation_p.G239W|RAPH1_ENST00000439222.1_Missense_Mutation_p.G239W	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	239					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTGGCTGCCCTTGATGTGTC	0.353																																																	0													127	127	127					2																	204354324		2203	4300	6503	SO:0001583	missense	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.715G>T	2.37:g.204354324C>A	ENSP00000316543:p.Gly239Trp		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.G239W	ENST00000319170.5	37	c.715	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667209	0.67814	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.52983	0.84;0.84;0.67;0.74;0.82;0.64;0.82;0.84;0.74;0.65;0.83	5.78	5.78	0.91487	.	0.000000	0.49305	D	0.000151	T	0.62962	0.2471	L	0.43152	1.355	0.51482	D	0.999926	D;D;P	0.71674	0.975;0.998;0.95	P;D;P	0.66084	0.708;0.941;0.621	T	0.63332	-0.6661	10	0.72032	D	0.01	-14.3768	20.0044	0.97430	0.0:1.0:0.0:0.0	.	239;239;239	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	W	239	ENSP00000392854:G239W;ENSP00000316543:G239W;ENSP00000363617:G239W;ENSP00000363613:G239W;ENSP00000363612:G239W;ENSP00000311293:G239W;ENSP00000411138:G239W;ENSP00000390578:G239W;ENSP00000397751:G239W;ENSP00000406662:G239W;ENSP00000396711:G239W	ENSP00000311293:G239W	G	-	1	0	RAPH1	204062569	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.771000	0.62318	2.714000	0.92807	0.650000	0.86243	GGG	RAPH1	-	NULL	ENSG00000173166		0.353	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2		0	30	0	C	NM_025252		204354324	-1			no_errors	ENST00000374493	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	204354324	C	A	204354324	3	1	48	1	0	0	0	0	1	0	0	0	13095	681	24	3	3252	3	RAPH1	2	204354324	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	7273719	204354324	38845049	27	11571											
KLF7	8609	genome.wustl.edu	37	chr2	207988664	207988664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaacggcccccgcagcCgtcacggctgctgcagctgt	5	8	11	17	4	2	0	1	0	1	0	2	0	2	0	3	2	5	5	3	2	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:207988664C>T	ENST00000309446.6	-	2	943	c.567G>A	c.(565-567)acG>acA	p.T189T	KLF7_ENST00000458272.1_Intron|KLF7_ENST00000412414.2_Silent_p.T161T|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000421199.1_Silent_p.T156T|KLF7-IT1_ENST00000428777.1_RNA	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	189					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CCCCCGCAGCCGTCACGGCTG	0.612																																																	0													49	54	52					2																	207988664		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.567G>A	2.37:g.207988664C>T			B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T189	ENST00000309446.6	37	c.567	CCDS2373.1	2																																																																																			KLF7	-	NULL	ENSG00000118263		0.612	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF7	HGNC	protein_coding	OTTHUMT00000256466.2	-	0	38	0	C	NM_003709		207988664	-1	tier1	-	no_errors	ENST00000309446	ensembl	human	known	74_37	silent	21.57	40	11	SNP	0.001	T	T	207988664	C	T	207988664	2	4	48	1	0	0	0	0	0	0	0	1	8378	639	23	1		1	KLF7	2	207988664	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	3634340	207988664	35210709	28	11572											
ERBB4	2066	genome.wustl.edu	37	chr2	212288964	212288964	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaataaatcagggatttCtcgcgttggaattccatcat	11	14	7	9	2	4	0	2	0	2	0	6	2	5	2	1	2	0	1	1	2	4	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:212288964C>A	ENST00000342788.4	-	23	3092	c.2782G>T	c.(2782-2784)Gaa>Taa	p.E928*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.E928*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.E918*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	928	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E928*(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCAGGGATTTCTCGCGTTGGA	0.383										TSP Lung(8;0.080)																																							1	Substitution - Nonsense(1)	large_intestine(1)											109	107	108					2																	212288964		2203	4300	6503	SO:0001587	stop_gained	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2782G>T	2.37:g.212288964C>A	ENSP00000342235:p.Glu928*		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E928*	ENST00000342788.4	37	c.2782	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.496525	0.98836	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	6.16	6.16	0.99307	.	0.093035	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	928;928;918	.	ENSP00000342235:E928X	E	-	1	0	ERBB4	211997209	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178568		0.383	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	52	0	C	NM_001042599		212288964	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	A	A	212288964	C	A	212288964	4	1	48	1	0	0	0	0	0	1	0	0	5225	922	32	3	1168	3	ERBB4	2	212288964	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	4300300	212288964	30910409	29	11573											
TTLL4	9654	genome.wustl.edu	37	chr2	219603750	219603750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatttggagaaggcaaaGctccaggtcccccttttcct	9	10	9	13	0	0	1	0	0	0	1	3	2	3	1	4	3	2	3	4	3	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:219603750G>A	ENST00000392102.1	+	3	1691	c.1351G>A	c.(1351-1353)Gct>Act	p.A451T	TTLL4_ENST00000442769.1_Missense_Mutation_p.A451T|TTLL4_ENST00000457313.1_Missense_Mutation_p.A286T|TTLL4_ENST00000258398.4_Missense_Mutation_p.A451T	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	451					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAAGGCAAAGCTCCAGGTCC	0.547																																					GBM(172;1818 2053 15407 20943 49753)												0													92	88	89					2																	219603750		2203	4300	6503	SO:0001583	missense	0				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1351G>A	2.37:g.219603750G>A	ENSP00000375951:p.Ala451Thr		A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.A451T	ENST00000392102.1	37	c.1351	CCDS2422.1	2	.	.	.	.	.	.	.	.	.	.	G	1.078	-0.667861	0.03428	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.04194	3.91;4.13;3.68;4.13	4.37	-3.87	0.04218	.	1.207790	0.05983	N	0.644638	T	0.01661	0.0053	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.46789	-0.9166	10	0.15066	T	0.55	.	1.4818	0.02438	0.2593:0.259:0.3525:0.1292	.	286;451;451	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	T	286;451;451;451	ENSP00000393332:A286T;ENSP00000375951:A451T;ENSP00000396555:A451T;ENSP00000258398:A451T	ENSP00000258398:A451T	A	+	1	0	TTLL4	219311994	0.000000	0.05858	0.136000	0.22124	0.293000	0.27360	-0.373000	0.07494	-0.455000	0.07054	0.561000	0.74099	GCT	TTLL4	-	NULL	ENSG00000135912		0.547	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	-	0	37	0	G	NM_014640		219603750	1	tier1	-	no_errors	ENST00000258398	ensembl	human	known	74_37	missense	8.70	63	6	SNP	0.018	A	A	219603750	G	A	219603750	3	1	48	1	0	0	0	0	1	0	0	0	16778	971	34	3	1353	3	TTLL4	2	219603750	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	7314786	219603750	23595623	30	11574											
OBSL1	23363	genome.wustl.edu	37	chr2	220432177	220432177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcctgccgctccagcCggtagatgaatggggtctcg	6	9	12	14	3	1	2	0	1	1	1	4	2	3	2	5	3	2	2	5	3	2	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:220432177C>T	ENST00000404537.1	-	4	1711	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	OBSL1_ENST00000603926.1_Missense_Mutation_p.R552Q|OBSL1_ENST00000373873.4_Missense_Mutation_p.R552Q|OBSL1_ENST00000289656.3_Missense_Mutation_p.R139Q|OBSL1_ENST00000373876.1_Missense_Mutation_p.R552Q|OBSL1_ENST00000265318.4_Missense_Mutation_p.R552Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	552	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCGCTCCAGCCGGTAGATGAA	0.617																																																	0													21	27	25					2																	220432177		2019	4172	6191	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1655G>A	2.37:g.220432177C>T	ENSP00000385636:p.Arg552Gln		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R552Q	ENST00000404537.1	37	c.1655	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162877	0.78226	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.58652	0.54;0.48;0.44;0.32;0.86	4.92	4.92	0.64577	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66056	0.2751	L	0.43152	1.355	0.27927	N	0.938036	D;D;D;D	0.76494	0.999;0.998;0.998;0.99	D;D;P;P	0.79108	0.99;0.992;0.743;0.731	T	0.55995	-0.8052	9	0.28530	T	0.3	.	10.938	0.47257	0.2387:0.7613:0.0:0.0	.	553;552;139;552	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	Q	552;552;552;552;139	ENSP00000265318:R552Q;ENSP00000385636:R552Q;ENSP00000362983:R552Q;ENSP00000362980:R552Q;ENSP00000289656:R139Q	ENSP00000265318:R552Q	R	-	2	0	OBSL1	220140421	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.291000	0.65667	2.569000	0.86673	0.561000	0.74099	CGG	OBSL1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000124006		0.617	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0	64	0	C			220432177	-1	tier1	-	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	14.49	59	10	SNP	0.991	T	T	220432177	C	T	220432177	3	4	48	1	0	0	0	0	1	0	0	0	10852	652	23	1	4259	1	OBSL1	2	220432177	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	828427	220432177	22767196	31	11575											
COL6A3	1293	genome.wustl.edu	37	chr2	238275737	238275737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtcaataatctgcctcttgGtagagaagtccttcaggaag	11	11	10	9	1	4	1	2	0	2	1	5	3	5	2	2	2	1	1	2	2	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:238275737G>A	ENST00000295550.4	-	11	5545	c.5093C>T	c.(5092-5094)aCc>aTc	p.T1698I	COL6A3_ENST00000347401.3_Missense_Mutation_p.T1497I|COL6A3_ENST00000346358.4_Missense_Mutation_p.T1498I|COL6A3_ENST00000353578.4_Missense_Mutation_p.T1492I|COL6A3_ENST00000409809.1_Missense_Mutation_p.T1492I|COL6A3_ENST00000472056.1_Missense_Mutation_p.T1091I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1698	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTCTTGGTAGAGAAGTC	0.498																																																	0													81	68	73					2																	238275737		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5093C>T	2.37:g.238275737G>A	ENSP00000295550:p.Thr1698Ile		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T1698I	ENST00000295550.4	37	c.5093	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206521	0.39003	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.49	3.51	0.40186	von Willebrand factor, type A (3);	0.349375	0.24289	N	0.039835	D	0.85860	0.5795	M	0.81112	2.525	0.29161	N	0.877788	D;D;P	0.71674	0.998;0.995;0.896	D;D;P	0.68621	0.959;0.923;0.776	T	0.80410	-0.1394	10	0.72032	D	0.01	.	9.2258	0.37405	0.0:0.2193:0.4916:0.2891	.	1091;1492;1698	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	I	1698;1497;1492;1091;1492;1498	ENSP00000295550:T1698I;ENSP00000315609:T1497I;ENSP00000315873:T1492I;ENSP00000418285:T1091I;ENSP00000386844:T1492I;ENSP00000295546:T1498I	ENSP00000295550:T1698I	T	-	2	0	COL6A3	237940476	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	1.258000	0.32944	1.241000	0.43820	0.650000	0.86243	ACC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.498	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	56	0	G	NM_004369		238275737	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	15.48	71	13	SNP	0.963	A	A	238275737	G	A	238275737	3	1	48	1	0	0	0	0	1	0	0	0	3708	1261	44	3	4576	3	COL6A3	2	238275737	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	17843560	238275737	4923636	32	11576											
COL6A3	1293	genome.wustl.edu	37	chr2	238289897	238289897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtgtacagggccgagcCgtccaggggcttcattttcc	5	9	13	14	3	1	0	1	0	0	0	3	1	3	0	5	3	2	2	5	3	1	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr2:238289897C>T	ENST00000295550.4	-	5	2010	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	COL6A3_ENST00000347401.3_Missense_Mutation_p.G319S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G520S|COL6A3_ENST00000392003.2_Missense_Mutation_p.G113S|COL6A3_ENST00000392004.3_Missense_Mutation_p.G314S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G314S|COL6A3_ENST00000409809.1_Missense_Mutation_p.G314S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G113S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	520	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGGCCGAGCCGTCCAGGGGC	0.522																																																	0													92	104	100					2																	238289897		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.1558G>A	2.37:g.238289897C>T	ENSP00000295550:p.Gly520Ser		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G520S	ENST00000295550.4	37	c.1558	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032573	0.75504	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003;ENST00000433762	T;T;T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000049	T	0.72732	0.3497	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.987;0.999	D;D;D;D;P;D	0.70716	0.946;0.97;0.927;0.927;0.842;0.946	T	0.77094	-0.2715	10	0.49607	T	0.09	.	12.6966	0.57008	0.0:0.9247:0.0:0.0753	.	520;113;113;314;314;520	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	S	520;319;314;113;314;520;314;113;520	ENSP00000295550:G520S;ENSP00000315609:G319S;ENSP00000315873:G314S;ENSP00000418285:G113S;ENSP00000386844:G314S;ENSP00000295546:G520S;ENSP00000375861:G314S;ENSP00000375860:G113S;ENSP00000389539:G520S	ENSP00000295550:G520S	G	-	1	0	COL6A3	237954636	1.000000	0.71417	0.239000	0.24122	0.464000	0.32679	5.839000	0.69395	2.570000	0.86706	0.655000	0.94253	GGC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.522	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	41	0	C	NM_004369		238289897	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.998	T	T	238289897	C	T	238289897	3	4	48	1	0	0	0	0	1	0	0	0	3708	652	23	1	8182	1	COL6A3	2	238289897	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	14160	238289897	4909476	33	11577											
IRAK2	3656	genome.wustl.edu	37	chr3	10255052	10255052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacagagggcacaggcaCgggaagccattcgtcttcaa	11	7	12	11	2	3	1	1	0	2	1	4	2	3	2	1	3	2	2	1	3	3	3	rs372180328		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:10255052C>T	ENST00000256458.4	+	5	780	c.690C>T	c.(688-690)caC>caT	p.H230H		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGCACAGGCACGGGAAGCCAT	0.557																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	64	62	63		690	-11	0	3		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IRAK2	NM_001570.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		230/626	10255052	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.690C>T	3.37:g.10255052C>T			B4DQZ6|Q08AG6|Q5K546	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H230	ENST00000256458.4	37	c.690	CCDS33697.1	3																																																																																			IRAK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134070		0.557	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	-	0	26	0	C			10255052	1	tier1	-	no_errors	ENST00000256458	ensembl	human	known	74_37	silent	17.07	34	7	SNP	0.000	T	T	10255052	C	T	10255052	2	4	48	1	0	0	0	0	0	0	0	1	7850	535	19	1		1	IRAK2	3	10255052	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		10255052	187767378	34	11578											
ZNF385D	79750	genome.wustl.edu	37	chr3	21478515	21478515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacagcaaccttgcatagcGaacagtaaagaagccgtttt	14	9	9	9	2	0	2	0	1	0	1	0	3	0	2	2	0	6	4	2	0	6	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:21478515G>A	ENST00000281523.2	-	5	1138	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	207						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S207L(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTGCATAGCGAACAGTAAAG	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											178	147	158					3																	21478515		2203	4300	6503	SO:0001583	missense	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.620C>T	3.37:g.21478515G>A	ENSP00000281523:p.Ser207Leu			Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.S207L	ENST00000281523.2	37	c.620	CCDS2636.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.702821	0.96812	.	.	ENSG00000151789	ENST00000281523	T	0.24151	1.87	6.09	6.09	0.99107	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31724	-0.9933	10	0.45353	T	0.12	-7.6409	20.6789	0.99705	0.0:0.0:1.0:0.0	.	207	Q9H6B1	Z385D_HUMAN	L	207	ENSP00000281523:S207L	ENSP00000281523:S207L	S	-	2	0	ZNF385D	21453519	1.000000	0.71417	0.979000	0.43373	0.999000	0.98932	9.769000	0.98969	2.891000	0.99171	0.655000	0.94253	TCG	ZNF385D	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000151789		0.478	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	-	0	100	0	G	NM_024697		21478515	-1	tier1	-	no_errors	ENST00000281523	ensembl	human	known	74_37	missense	13.19	125	19	SNP	1.000	A	A	21478515	G	A	21478515	3	1	48	1	0	0	0	0	1	0	0	0	17926	1059	37	1	583	1	ZNF385D	3	21478515	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	11223463	21478515	176543915	35	11579											
NBEAL2	23218	genome.wustl.edu	37	chr3	47037271	47037271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaccctggtggtggctGtgtgcacacggaaggagtat	7	8	17	9	2	0	0	0	0	0	0	0	3	0	3	2	6	1	3	2	6	2	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:47037271G>T	ENST00000450053.3	+	14	2145	c.1966G>T	c.(1966-1968)Gtg>Ttg	p.V656L	NBEAL2_ENST00000292309.5_Missense_Mutation_p.V656L|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	656					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGTGGTGGCTGTGTGCACACG	0.587																																																	0													82	96	92					3																	47037271		2055	4188	6243	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1966G>T	3.37:g.47037271G>T	ENSP00000415034:p.Val656Leu		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V656L	ENST00000450053.3	37	c.1966	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.138517	0.94560	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.58358	0.34;0.34	4.72	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.69682	0.3138	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69760	-0.5058	10	0.44086	T	0.13	.	16.8458	0.85980	0.0:0.0:1.0:0.0	.	656	Q6ZNJ1	NBEL2_HUMAN	L	656	ENSP00000292309:V656L;ENSP00000415034:V656L	ENSP00000292309:V656L	V	+	1	0	NBEAL2	47012275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.470000	0.97683	2.459000	0.83118	0.655000	0.94253	GTG	NBEAL2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000160796		0.587	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	50	0	G	XM_291064		47037271	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	7.41	75	6	SNP	1.000	T	T	47037271	G	T	47037271	3	4	48	1	0	0	0	0	1	0	0	0	10227	1377	48	3	2020	3	NBEAL2	3	47037271	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	25558756	47037271	150985159	36	11580											
DOCK3	1795	genome.wustl.edu	37	chr3	51352437	51352437	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataagatccactttattccgGgaatgattggtccttttctg	9	16	8	8	1	1	2	0	1	1	1	4	3	4	3	3	2	0	0	3	2	3	7			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:51352437G>T	ENST00000266037.9	+	32	3303	c.3280G>T	c.(3280-3282)Gga>Tga	p.G1094*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1094					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTTTATTCCGGGAATGATTGG	0.453																																																	0													54	56	55					3																	51352437		1888	4100	5988	SO:0001587	stop_gained	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3280G>T	3.37:g.51352437G>T	ENSP00000266037:p.Gly1094*		O15017	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.G1094*	ENST00000266037.9	37	c.3280	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	41	8.931785	0.99008	.	.	ENSG00000088538	ENST00000266037	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	.	.	.	X	1094	.	ENSP00000266037:G1094X	G	+	1	0	DOCK3	51327477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.765000	0.95021	0.555000	0.69702	GGA	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.453	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0	12	0	G	NM_004947		51352437	1			no_errors	ENST00000266037	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	T	T	51352437	G	T	51352437	4	4	48	1	0	0	0	0	0	1	0	0	4702	1233	43	3	3406	3	DOCK3	3	51352437	Nonsense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	4315166	51352437	146669993	37	11581											
DOCK3	1795	genome.wustl.edu	37	chr3	51352528	51352528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatgacatgatggactGggagcagagaaaaaatggca	15	8	12	6	0	1	3	1	2	0	1	1	6	1	5	0	3	1	2	0	3	3	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:51352528G>T	ENST00000266037.9	+	32	3394	c.3371G>T	c.(3370-3372)tGg>tTg	p.W1124L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1124					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ATGATGGACTGGGAGCAGAGA	0.478																																																	0													86	86	86					3																	51352528		1915	4123	6038	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3371G>T	3.37:g.51352528G>T	ENSP00000266037:p.Trp1124Leu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.W1124L	ENST00000266037.9	37	c.3371	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955133	0.73902	.	.	ENSG00000088538	ENST00000266037	T	0.49139	0.79	5.73	5.73	0.89815	.	0.051051	0.85682	D	0.000000	T	0.43211	0.1237	L	0.40543	1.245	0.80722	D	1	B	0.24483	0.104	B	0.21708	0.036	T	0.17868	-1.0355	10	0.25751	T	0.34	.	19.9017	0.96988	0.0:0.0:1.0:0.0	.	1124	Q8IZD9	DOCK3_HUMAN	L	1124	ENSP00000266037:W1124L	ENSP00000266037:W1124L	W	+	2	0	DOCK3	51327568	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.790000	0.99075	2.707000	0.92482	0.561000	0.74099	TGG	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.478	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	20	0	G	NM_004947		51352528	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	T	T	51352528	G	T	51352528	3	4	48	1	0	0	0	0	1	0	0	0	4702	1357	47	3	3497	3	DOCK3	3	51352528	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	91	51352528	146669902	38	11582											
IQCF3	401067	genome.wustl.edu	37	chr3	51863720	51863720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtagaaagacagaggCggcagaaggtaggtggggcc	13	4	18	6	1	0	4	0	0	0	4	0	4	0	4	1	6	1	4	1	6	4	2	rs572500189		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:51863720C>T	ENST00000456080.1	+	7	1223	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	IQCF3_ENST00000444293.1_Missense_Mutation_p.R20W|IQCF3_ENST00000446775.1_Missense_Mutation_p.R20W|IQCF3_ENST00000440739.2_Missense_Mutation_p.R20W|IQCF3_ENST00000437810.2_Missense_Mutation_p.R20W			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	20										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGACAGAGGCGGCAGAAGGT	0.527													C|||	1	0.000199681	0	0	5008	,	,		21073	0.001		0	False		,,,				2504	0																0													98	121	114					3																	51863720		2015	4170	6185	SO:0001583	missense	0			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.58C>T	3.37:g.51863720C>T	ENSP00000415609:p.Arg20Trp		B2RUV0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.R20W	ENST00000456080.1	37	c.58	CCDS46837.1	3	.	.	.	.	.	.	.	.	.	.	C	6.474	0.455670	0.12283	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739;ENST00000444293	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	3.59	-3.27	0.05048	.	.	.	.	.	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B	0.33904	0.431	B	0.26969	0.075	T	0.10660	-1.0620	9	0.62326	D	0.03	.	4.0869	0.09951	0.4786:0.3212:0.1159:0.0843	.	20	P0C7M6	IQCF3_HUMAN	W	20	ENSP00000415609:R20W;ENSP00000409373:R20W;ENSP00000401767:R20W;ENSP00000402012:R20W	ENSP00000409373:R20W	R	+	1	2	IQCF3	51838760	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.390000	0.01057	-1.198000	0.02669	-2.726000	0.00130	CGG	IQCF3	-	superfamily_P-loop_NTPase	ENSG00000229972		0.527	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF3	HGNC	protein_coding	OTTHUMT00000346579.2	-	0	30	0	C	NM_001085479		51863720	1	tier1	-	no_errors	ENST00000437810	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	T	T	51863720	C	T	51863720	3	4	48	1	0	0	0	0	1	0	0	0	7836	759	27	1	64	1	IQCF3	3	51863720	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	511192	51863720	146158710	39	11583											
RPL29	6159	genome.wustl.edu	37	chr3	52027882	52027882	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttggccttggccttTggccggcacagcctgagccc	3	10	13	15	1	0	1	0	1	0	0	0	1	0	1	6	5	2	1	6	5	0	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:52027882T>G	ENST00000466397.1	-	4	503	c.363A>C	c.(361-363)ccA>ccC	p.P121P	RPL29_ENST00000475248.1_Silent_p.P121P|RPL29_ENST00000479017.1_Silent_p.P121P|RPL29_ENST00000495383.1_Silent_p.P121P|RPL29_ENST00000294189.6_Silent_p.P121P			P47914	RL29_HUMAN	ribosomal protein L29	121					cellular protein metabolic process (GO:0044267)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ccttggcctttggccGGCACA	0.627																																																	0													26	31	29					3																	52027882		1795	3479	5274	SO:0001819	synonymous_variant	0			U10248	CCDS2845.1	3p21.3-p21.2	2013-03-11			ENSG00000162244	ENSG00000162244		"L ribosomal proteins"	10331	protein-coding gene	gene with protein product	"60S ribosomal protein L29", "heparin/heparan sulfate-interacting protein", "HP/HS-interacting protein", "heparin/heparan sulfate-binding protein", "cell surface heparin-binding protein HIP"	601832	"ribosomal protein L29 pseudogene 10"	RPL29P10		8597591	Standard	NM_000992		Approved	HIP, HUMRPL29, L29	uc003dcs.3	P47914	OTTHUMG00000155262	ENST00000466397.1:c.363A>C	3.37:g.52027882T>G			A8K0H3|B2R4M8|Q6IPY3	Silent	SNP	pfam_Ribosomal_L29e	p.P121	ENST00000466397.1	37	c.363	CCDS2845.1	3																																																																																			RPL29	-	NULL	ENSG00000162244		0.627	RPL29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL29	HGNC	protein_coding	OTTHUMT00000349680.2		0	46	0	T	NM_000992		52027882	-1			no_errors	ENST00000294189	ensembl	human	known	74_37	silent	13.04	60	9	SNP	0.998	G	G	52027882	T	G	52027882	2	3	48	1	0	0	0	0	0	0	0	1	13623	1799	63	4		4	RPL29	3	52027882	Silent	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	164162	52027882	145994548	40	11584											
UBA5	79876	genome.wustl.edu	37	chr3	132395299	132395299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatagcaagaagattctGtcactgagttaacagtggaa	15	10	10	6	0	3	3	2	1	1	2	3	4	3	4	0	1	2	2	0	1	6	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:132395299G>T	ENST00000356232.4	+	12	2216	c.1144G>T	c.(1144-1146)Gtc>Ttc	p.V382F	UBA5_ENST00000493720.2_Intron|UBA5_ENST00000494238.2_Missense_Mutation_p.V326F|UBA5_ENST00000473651.1_Missense_Mutation_p.C346F|UBA5_ENST00000264991.4_Missense_Mutation_p.V326F	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	382					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGAAGATTCTGTCACTGAGTT	0.343																																																	0													101	100	100					3																	132395299		2203	4300	6503	SO:0001583	missense	0			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"Ubiquitin-like modifier activating enzymes"	23230	protein-coding gene	gene with protein product	"UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"	610552	"ubiquitin-activating enzyme E1-domain containing 1"	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.1144G>T	3.37:g.132395299G>T	ENSP00000348565:p.Val382Phe		A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.V382F	ENST00000356232.4	37	c.1144	CCDS3076.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.386|6.386	0.439245|0.439245	0.12104|0.12104	.|.	.|.	ENSG00000081307|ENSG00000081307	ENST00000473651|ENST00000264991;ENST00000356232;ENST00000494238	D|D;D;D	0.82344|0.82711	-1.6|-1.64;-1.64;-1.64	5.87|5.87	3.0|3.0	0.34707|0.34707	.|Molybdenum cofactor biosynthesis, MoeB (1);	.|0.889079	.|0.10014	.|N	.|0.726831	T|T	0.74336|0.74336	0.3703|0.3703	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B|B	0.15141|0.22746	0.012|0.074	B|B	0.09377|0.20955	0.004|0.032	T|T	0.64011|0.64011	-0.6507|-0.6507	8|10	.|0.56958	.|D	.|0.05	-4.7668|-4.7668	4.8441|4.8441	0.13505|0.13505	0.3399:0.1526:0.5075:0.0|0.3399:0.1526:0.5075:0.0	.|.	346|382	E7EWE1|Q9GZZ9	.|UBA5_HUMAN	F|F	346|326;382;326	ENSP00000424984:C346F|ENSP00000264991:V326F;ENSP00000348565:V382F;ENSP00000418807:V326F	.|ENSP00000264991:V326F	C|V	+|+	2|1	0|0	UBA5|UBA5	133877989|133877989	0.005000|0.005000	0.15991|0.15991	0.793000|0.793000	0.32043|0.32043	0.752000|0.752000	0.42762|0.42762	0.986000|0.986000	0.29590|0.29590	0.953000|0.953000	0.37825|0.37825	-0.140000|-0.140000	0.14226|0.14226	TGT|GTC	UBA5	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000081307		0.343	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA5	HGNC	protein_coding	OTTHUMT00000357187.2	-	0	27	0	G	NM_024818		132395299	1	tier1	-	no_errors	ENST00000356232	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.033	T	T	132395299	G	T	132395299	3	4	48	1	0	0	0	0	1	0	0	0	16879	1377	48	3	1190	3	UBA5	3	132395299	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	80367417	132395299	65627131	41	11585											
NLGN1	22871	genome.wustl.edu	37	chr3	173996722	173996722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttagttttcaacctgcaAaatatgctagaatgttggcc	11	14	8	8	0	1	1	1	0	0	1	1	1	1	1	2	1	3	5	2	1	7	6			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr3:173996722A>C	ENST00000457714.1	+	6	1360	c.931A>C	c.(931-933)Aaa>Caa	p.K311Q	NLGN1_ENST00000401917.3_Missense_Mutation_p.K351Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.K311Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.K311Q|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	328					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TCAACCTGCAAAATATGCTAG	0.393																																																	0													93	92	92					3																	173996722		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.931A>C	3.37:g.173996722A>C	ENSP00000392500:p.Lys311Gln		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.K351Q	ENST00000457714.1	37	c.1051	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	A	17.45	3.393064	0.62066	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.62696	0.2449	N	0.20530	0.585	0.80722	D	1	P;B	0.38148	0.62;0.123	P;B	0.46718	0.525;0.038	T	0.64846	-0.6311	10	0.45353	T	0.12	.	16.065	0.80865	1.0:0.0:0.0:0.0	.	351;311	D2X2H5;Q8N2Q7-2	.;.	Q	311;311;351;311;351	ENSP00000392500:K311Q;ENSP00000354541:K311Q;ENSP00000410374:K351Q;ENSP00000441108:K311Q;ENSP00000385750:K351Q	ENSP00000354541:K311Q	K	+	1	0	NLGN1	175479416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.257000	0.74773	0.460000	0.39030	AAA	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.393	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	31	0	A	NM_014932		173996722	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	C	C	173996722	A	C	173996722	3	2	48	1	0	0	0	0	1	0	0	0	10500	15	1	4	945	4	NLGN1	3	173996722	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	41601423	173996722	24025708	42	11586											
HGFAC	3083	genome.wustl.edu	37	chr4	3446081	3446081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgagtacctggaggggggCgaccgctgggcccgcgtgcg	5	5	19	12	6	0	0	0	0	0	0	0	3	0	1	3	5	3	2	3	5	2	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr4:3446081C>T	ENST00000382774.3	+	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	HGFAC_ENST00000511533.1_Silent_p.G214G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	214	Fibronectin type-I. {ECO:0000255|PROSITE- ProRule:PRU00478}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGGAGGGGGGCGACCGCTGGG	0.682																																																	0													13	16	15					4																	3446081		2174	4279	6453	SO:0001819	synonymous_variant	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.642C>T	4.37:g.3446081C>T			Q14726|Q2M1W7|Q53X47	Silent	SNP	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G214	ENST00000382774.3	37	c.642	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1	ENSG00000109758		0.682	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	-	0	34	0	C			3446081	1	tier1	-	no_errors	ENST00000382774	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.342	T	T	3446081	C	T	3446081	2	4	48	1	0	0	0	0	0	0	0	1	7113	755	27	1		1	HGFAC	4	3446081	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		3446081	187708195	43	11587											
ATP8A1	10396	genome.wustl.edu	37	chr4	42445670	42445670	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagtgcgatgctccccCatatcgctatgtggctgaac	8	9	10	14	2	0	2	0	1	0	1	2	3	1	2	3	1	3	3	3	1	3	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr4:42445670C>T	ENST00000381668.5	-	33	3266	c.3035G>A	c.(3034-3036)tGg>tAg	p.W1012*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.W997*|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1012					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GATGCTCCCCCATATCGCTAT	0.458																																																	0													109	96	101					4																	42445670		2203	4300	6503	SO:0001587	stop_gained	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3035G>A	4.37:g.42445670C>T	ENSP00000371084:p.Trp1012*		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.W1012*	ENST00000381668.5	37	c.3035	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	44	10.829543	0.99474	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4234	0.94730	0.0:1.0:0.0:0.0	.	.	.	.	X	1012;997	.	ENSP00000264449:W997X	W	-	2	0	ATP8A1	42140427	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	7.396000	0.79891	2.602000	0.87976	0.655000	0.94253	TGG	ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.458	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	36	0	C	NM_006095		42445670	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	nonsense	18.18	45	10	SNP	1.000	T	T	42445670	C	T	42445670	4	4	48	1	0	0	0	0	0	1	0	0	1193	595	21	3	479	3	ATP8A1	4	42445670	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	38999589	42445670	148708606	44	11588											
KDR	3791	genome.wustl.edu	37	chr4	55971000	55971000	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttcttgcaaacaggtgtGggcaactctcccacatggat	11	10	10	10	0	2	0	0	0	2	0	3	1	2	1	1	3	3	3	1	3	3	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr4:55971000G>T	ENST00000263923.4	-	13	2092	c.1797C>A	c.(1795-1797)ccC>ccA	p.P599P		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	599	Ig-like C2-type 6.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P599P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAACAGGTGTGGGCAACTCTC	0.458			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - coding silent(1)	lung(1)											130	120	123					4																	55971000		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1797C>A	4.37:g.55971000G>T			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.P599	ENST00000263923.4	37	c.1797	CCDS3497.1	4																																																																																			KDR	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000128052		0.458	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1		0	26	0	G			55971000	-1			no_errors	ENST00000263923	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.541	T	T	55971000	G	T	55971000	2	4	48	1	0	0	0	0	0	0	0	1	8166	1335	47	3		3	KDR	4	55971000	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	13525330	55971000	135183276	45	11589											
AFF1	4299	genome.wustl.edu	37	chr4	88035615	88035615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggccccaggagcacagagCccccacggcggcacccagag	10	0	14	17	2	0	2	0	0	0	2	0	3	0	3	5	4	2	2	5	4	0	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr4:88035615C>T	ENST00000307808.6	+	11	2029	c.1609C>T	c.(1609-1611)Ccc>Tcc	p.P537S	AFF1_ENST00000544085.1_Missense_Mutation_p.P175S|AFF1_ENST00000395146.4_Missense_Mutation_p.P544S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	537					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GAGCACAGAGCCCCCACGGCG	0.592																																																	0													16	22	20					4																	88035615		2189	4283	6472	SO:0001583	missense	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1609C>T	4.37:g.88035615C>T	ENSP00000305689:p.Pro537Ser		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P544S	ENST00000307808.6	37	c.1630	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768769	0.31320	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.62498	0.02;0.02;0.02	5.62	2.57	0.30868	.	0.873824	0.10232	N	0.699523	T	0.36771	0.0979	N	0.16790	0.44	0.09310	N	1	B;B;B	0.21071	0.051;0.051;0.051	B;B;B	0.17433	0.018;0.018;0.018	T	0.30909	-0.9962	10	0.05436	T	0.98	-1.3899	3.9748	0.09470	0.1724:0.5824:0.15:0.0952	.	544;537;537	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	S	544;196;537;175	ENSP00000378578:P544S;ENSP00000305689:P537S;ENSP00000440843:P175S	ENSP00000305689:P537S	P	+	1	0	AFF1	88254639	0.000000	0.05858	0.111000	0.21465	0.054000	0.15201	0.417000	0.21214	0.160000	0.19432	0.561000	0.74099	CCC	AFF1	-	pfam_TF_AF4/FMR2	ENSG00000172493		0.592	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	-	0	15	0	C	NM_005935		88035615	1	tier1	-	no_errors	ENST00000395146	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.099	T	T	88035615	C	T	88035615	3	4	48	1	0	0	0	0	1	0	0	0	356	739	26	3	1693	3	AFF1	4	88035615	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	32064615	88035615	103118661	46	11590											
SPATA5	166378	genome.wustl.edu	37	chr4	124235172	124235172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctgagtcattgagaCgtttttatgaagattatcaa	13	15	8	5	1	2	4	2	3	0	2	3	6	3	4	1	0	0	1	1	0	5	6	rs28716389		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr4:124235172C>A	ENST00000274008.4	+	16	2704	c.2635C>A	c.(2635-2637)Cgt>Agt	p.R879S		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	879					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.R879C(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTCATTGAGACGTTTTTATGA	0.383																																																	1	Substitution - Missense(1)	endometrium(1)											94	85	88					4																	124235172		2203	4300	6503	SO:0001583	missense	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2635C>A	4.37:g.124235172C>A	ENSP00000274008:p.Arg879Ser		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.R879S	ENST00000274008.4	37	c.2635	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487050	0.26686	.	.	ENSG00000145375	ENST00000274008	D	0.94650	-3.48	5.5	5.5	0.81552	.	0.151045	0.46145	D	0.000309	D	0.88948	0.6576	N	0.13352	0.335	0.33733	D	0.61844	B	0.21309	0.054	B	0.21360	0.034	D	0.88742	0.3244	10	0.46703	T	0.11	-15.9782	15.0728	0.72053	0.1423:0.8577:0.0:0.0	.	879	Q8NB90	SPAT5_HUMAN	S	879	ENSP00000274008:R879S	ENSP00000274008:R879S	R	+	1	0	SPATA5	124454622	0.997000	0.39634	0.992000	0.48379	0.417000	0.31264	2.526000	0.45607	2.584000	0.87258	0.563000	0.77884	CGT	SPATA5	-	superfamily_P-loop_NTPase	ENSG00000145375		0.383	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2		0	25	0	C	NM_145207		124235172	1			no_errors	ENST00000274008	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.996	A	A	124235172	C	A	124235172	3	1	48	1	0	0	0	0	1	0	0	0	15058	536	19	2	2697	2	SPATA5	4	124235172	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	36199557	124235172	66919104	47	11591											
ING2	3622	genome.wustl.edu	37	chr4	184431438	184431438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttttcctttttttagaaaCgttaaaggaaattgatgatg	12	18	7	4	1	1	3	0	2	1	1	2	4	2	4	1	1	1	1	1	1	5	8			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr4:184431438C>T	ENST00000302327.3	+	2	378	c.176C>T	c.(175-177)aCg>aTg	p.T59M	ING2_ENST00000434682.2_Missense_Mutation_p.T19M	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	59					chromatin modification (GO:0016568)|male germ-line stem cell asymmetric division (GO:0048133)|male meiosis I (GO:0007141)|negative regulation of cell proliferation (GO:0008285)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cellular senescence (GO:2000772)|regulation of growth (GO:0040008)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|seminiferous tubule development (GO:0072520)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleus (GO:0005634)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTTTTAGAAACGTTAAAGGAA	0.308																																																	0													61	71	68					4																	184431438		2139	4263	6402	SO:0001583	missense	0			AB012853	CCDS3833.1	4q35.1	2013-01-28	2005-02-10	2005-02-11	ENSG00000168556	ENSG00000168556		"Zinc fingers, PHD-type"	6063	protein-coding gene	gene with protein product		604215	"inhibitor of growth family, member 1-like"	ING1L		10072587	Standard	XM_005262982		Approved	p33ING2	uc003ivs.1	Q9H160	OTTHUMG00000150502	ENST00000302327.3:c.176C>T	4.37:g.184431438C>T	ENSP00000307183:p.Thr59Met		B6ZDS1|O95698	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T59M	ENST00000302327.3	37	c.176	CCDS3833.1	4	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024553	0.35701	.	.	ENSG00000168556	ENST00000302327;ENST00000412117;ENST00000434682	.	.	.	5.54	5.54	0.83059	Double Clp-N motif (1);Inhibitor of growth protein, N-terminal (1);	0.107276	0.64402	D	0.000005	T	0.41858	0.1177	N	0.08118	0	0.38151	D	0.938752	P;P	0.46656	0.882;0.478	P;B	0.45971	0.499;0.148	T	0.43278	-0.9401	9	0.33141	T	0.24	-9.2718	19.6745	0.95926	0.0:1.0:0.0:0.0	.	19;59	B6ZDS1;Q9H160	.;ING2_HUMAN	M	59;19;19	.	ENSP00000307183:T59M	T	+	2	0	ING2	184668432	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.202000	0.65169	2.880000	0.98712	0.650000	0.86243	ACG	ING2	-	NULL	ENSG00000168556		0.308	ING2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING2	HGNC	protein_coding	OTTHUMT00000318652.1	-	0	9	0	C	NM_001564		184431438	1	tier1	-	no_errors	ENST00000302327	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T	T	184431438	C	T	184431438	3	4	48	1	0	0	0	0	1	0	0	0	7763	536	19	1	182	1	ING2	4	184431438	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	60196266	184431438	6722838	48	11592											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5318251	5318251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgctctcacagtgcaCggccagctgtgggggaggcg	5	9	17	10	2	1	0	1	0	1	0	2	1	1	1	1	4	3	4	1	4	0	1	rs372733019		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:5318251C>T	ENST00000274181.7	+	22	3554	c.3416C>T	c.(3415-3417)aCg>aTg	p.T1139M		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1139	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCACAGTGCACGGCCAGCTGT	0.652																																																	0								C	MET/THR	0,4182		0,0,2091	43	49	47		3416	4.8	1	5		47	3,8425		0,3,4211	no	missense	ADAMTS16	NM_139056.2	81	0,3,6302	TT,TC,CC		0.0356,0.0,0.0238	probably-damaging	1139/1225	5318251	3,12607	2091	4214	6305	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3416C>T	5.37:g.5318251C>T	ENSP00000274181:p.Thr1139Met		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T1139M	ENST00000274181.7	37	c.3416	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240854	0.58995	0.0	3.56E-4	ENSG00000145536	ENST00000274181	T	0.54866	0.55	4.83	4.83	0.62350	.	0.060052	0.64402	D	0.000004	T	0.80243	0.4587	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.86552	0.1835	10	0.87932	D	0	.	15.7989	0.78436	0.0:1.0:0.0:0.0	.	1139	Q8TE57	ATS16_HUMAN	M	1139	ENSP00000274181:T1139M	ENSP00000274181:T1139M	T	+	2	0	ADAMTS16	5371251	0.993000	0.37304	0.963000	0.40424	0.125000	0.20455	5.421000	0.66447	2.396000	0.81511	0.563000	0.77884	ACG	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145536		0.652	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1		0	20	0	C	NM_139056		5318251	1			no_errors	ENST00000274181	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.998	T	T	5318251	C	T	5318251	3	4	48	1	0	0	0	0	1	0	0	0	261	536	19	1	3502	1	ADAMTS16	5	5318251	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		5318251	175597009	49	11593											
CARTPT	9607	genome.wustl.edu	37	chr5	71015223	71015223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggaggacgccgagctccagCcccgagccctggacatctac	9	4	12	16	3	1	0	0	0	1	0	2	5	2	3	5	3	4	1	5	3	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:71015223C>T	ENST00000296777.4	+	1	234	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S		NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	35					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	CGAGCTCCAGCCCCGAGCCCT	0.672																																																	0													70	68	69					5																	71015223		2203	4300	6503	SO:0001583	missense	0			U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"cocaine and amphetamine regulated transcript"	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.103C>T	5.37:g.71015223C>T	ENSP00000296777:p.Pro35Ser		Q6FG92	Missense_Mutation	SNP	pfam_CART,superfamily_CART	p.P35S	ENST00000296777.4	37	c.103	CCDS4011.1	5	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370198	0.61624	.	.	ENSG00000164326	ENST00000296777	T	0.54866	0.55	4.24	4.24	0.50183	.	0.284178	0.33610	N	0.004722	T	0.42765	0.1217	L	0.54323	1.7	0.38991	D	0.959154	B	0.34103	0.437	B	0.29077	0.098	T	0.40346	-0.9568	10	0.23302	T	0.38	.	10.8795	0.46929	0.1885:0.8115:0.0:0.0	.	35	Q16568	CART_HUMAN	S	35	ENSP00000296777:P35S	ENSP00000296777:P35S	P	+	1	0	CARTPT	71050979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.870000	0.48451	2.198000	0.70561	0.561000	0.74099	CCC	CARTPT	-	pfam_CART	ENSG00000164326		0.672	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARTPT	HGNC	protein_coding	OTTHUMT00000254029.2	-	0	54	0	C	NM_004291		71015223	1	tier1	-	no_errors	ENST00000296777	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	T	T	71015223	C	T	71015223	3	4	48	1	0	0	0	0	1	0	0	0	2666	739	26	3	105	3	CARTPT	5	71015223	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	65696972	71015223	109900037	50	11594											
MAP1B	4131	genome.wustl.edu	37	chr5	71403400	71403400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccgagccggagccgtcCggcagcatcgccaacccggc	7	2	13	19	6	0	0	0	0	0	0	2	2	1	1	7	3	4	2	7	3	1	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:71403400C>T	ENST00000296755.7	+	1	340	c.42C>T	c.(40-42)tcC>tcT	p.S14S	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	14					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGGAGCCGTCCGGCAGCATCG	0.682																																					Melanoma(17;367 822 11631 31730 47712)												0													20	18	19					5																	71403400		2198	4294	6492	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.42C>T	5.37:g.71403400C>T			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.S14	ENST00000296755.7	37	c.42	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.682	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	29	0	C	NM_005909		71403400	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.987	T	T	71403400	C	T	71403400	2	4	48	1	0	0	0	0	0	0	0	1	9266	639	23	1		1	MAP1B	5	71403400	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	388177	71403400	109511860	51	11595											
CMYA5	202333	genome.wustl.edu	37	chr5	79025231	79025231	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacaaagaacacaagccaTtagtgttaagaccagtctac	17	9	6	9	0	1	2	0	0	1	2	1	2	1	2	2	0	4	1	2	0	8	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:79025231T>C	ENST00000446378.2	+	2	674	c.643T>C	c.(643-645)Tta>Cta	p.L215L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	215					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACACAAGCCATTAGTGTTAAG	0.318																																																	0													53	51	52					5																	79025231		1813	4092	5905	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.643T>C	5.37:g.79025231T>C			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.L215	ENST00000446378.2	37	c.643	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.318	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	31	0	T	NM_153610		79025231	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.069	C	C	79025231	T	C	79025231	2	2	48	1	0	0	0	0	0	0	0	1	3597	1490	52	4		4	CMYA5	5	79025231	Silent	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	7621831	79025231	101890029	52	11596											
ZFYVE16	9765	genome.wustl.edu	37	chr5	79747495	79747495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaaaggtttttcctatgCgtttaatgttgagattgggt	8	16	13	4	1	0	1	0	1	0	1	1	2	1	1	1	3	1	4	1	3	3	7			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:79747495C>T	ENST00000338008.5	+	10	3754	c.3574C>T	c.(3574-3576)Cgt>Tgt	p.R1192C	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.R1192C|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.R1192C	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1192					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTTTCCTATGCGTTTAATGTT	0.328																																					Melanoma(150;1452 1854 16018 17851 37292)												0													121	122	122					5																	79747495		2203	4300	6503	SO:0001583	missense	0			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"Zinc fingers, FYVE domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	20756	protein-coding gene	gene with protein product	"endofin", "protein phosphatase 1, regulatory subunit 69"	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.3574C>T	5.37:g.79747495C>T	ENSP00000337159:p.Arg1192Cys		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.R1192C	ENST00000338008.5	37	c.3574	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257149	0.80246	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.74421	-0.84;-0.84;-0.84	5.7	5.7	0.88788	Domain of unknown function DUF3480 (1);	0.000000	0.56097	D	0.000035	D	0.87410	0.6170	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.979	D	0.88443	0.3043	10	0.87932	D	0	-16.5702	18.6024	0.91253	0.0:1.0:0.0:0.0	.	2;1192	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	C	1192	ENSP00000337159:R1192C;ENSP00000423663:R1192C;ENSP00000426848:R1192C	ENSP00000337159:R1192C	R	+	1	0	ZFYVE16	79783251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.853000	0.62911	2.684000	0.91462	0.650000	0.86243	CGT	ZFYVE16	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin	ENSG00000039319		0.328	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	-	0	35	0	C	NM_014733		79747495	1	tier1	-	no_errors	ENST00000338008	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	79747495	C	T	79747495	3	4	48	1	0	0	0	0	1	0	0	0	17712	768	27	1	3608	1	ZFYVE16	5	79747495	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	722264	79747495	101167765	53	11597											
VCAN	1462	genome.wustl.edu	37	chr5	82837981	82837981	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgtggaatttaatacTgaggttgcaacaccaccatt	13	11	7	10	0	0	1	0	1	0	0	0	2	0	2	3	2	4	2	3	2	5	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:82837981T>C	ENST00000265077.3	+	8	9724	c.9159T>C	c.(9157-9159)acT>acC	p.T3053T	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Silent_p.T2066T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3053	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATTTAATACTGAGGTTGCAA	0.443																																																	0													107	112	110					5																	82837981		2203	4300	6503	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9159T>C	5.37:g.82837981T>C			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.T3053	ENST00000265077.3	37	c.9159	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.443	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	21	0	T	NM_004385		82837981	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.002	C	C	82837981	T	C	82837981	2	2	48	1	0	0	0	0	0	0	0	1	17187	1567	55	4		4	VCAN	5	82837981	Silent	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	3090486	82837981	98077279	54	11598											
TIFAB	140947	genome.wustl.edu	37	chr5	134785568	134785568	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggtgggacattggcaaagGcagatgggcccagcgtggga	9	6	19	7	1	0	1	0	0	0	1	0	3	0	3	1	6	1	2	1	6	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:134785568G>A	ENST00000503143.2	-	0	0				CTB-138E5.1_ENST00000510230.1_RNA|TIFAB_ENST00000537858.1_Missense_Mutation_p.A21V	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN								nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTGGCAAAGGCAGATGGGCC	0.632																																																	0													74	84	81					5																	134785568		2143	4225	6368	SO:0001631	upstream_gene_variant	0																															5.37:g.134785568G>A	Exception_encountered			Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain	p.A21V	ENST00000503143.2	37	c.62	CCDS4186.1	5	.	.	.	.	.	.	.	.	.	.	G	6.008	0.369805	0.11352	.	.	ENSG00000255833	ENST00000537858	T	0.39229	1.09	4.91	2.5	0.30297	SMAD/FHA domain (1);	0.409504	0.22004	U	0.065965	T	0.20333	0.0489	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11616	-1.0580	10	0.21014	T	0.42	.	5.1082	0.14794	0.3424:0.0:0.6576:0.0	.	21	Q6ZNK6	TIFAB_HUMAN	V	21	ENSP00000440509:A21V	ENSP00000440509:A21V	A	-	2	0	TIFAB	134813467	0.600000	0.26899	0.010000	0.14722	0.243000	0.25628	0.889000	0.28282	1.057000	0.40506	0.563000	0.77884	GCC	TIFAB	-	superfamily_SMAD_FHA_domain	ENSG00000255833		0.632	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIFAB	HGNC	protein_coding	OTTHUMT00000372531.1	-	0	42	0	G			134785568	-1	tier1	-	no_errors	ENST00000537858	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.028	A	A	134785568	G	A	134785568	1	1	48	0	1	0	0	0	0	0	0	0	15942	1203	42	3		3	TIFAB	5	134785568	5'Flank	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	51947587	134785568	46129692	55	11599											
PCDHA8	56140	genome.wustl.edu	37	chr5	140220914	140220914	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgactatttaacatggattAtcactggcgaggagagctgg	12	10	12	7	2	1	1	1	0	0	1	1	5	1	2	0	4	2	1	0	4	3	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:140220914A>G	ENST00000531613.1	+	1	8	c.8A>G	c.(7-9)tAt>tGt	p.Y3C	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.Y3C|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	3					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATGGATTATCACTGGCGA	0.473																																																	0													75	80	78					5																	140220914		2203	4299	6502	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.8A>G	5.37:g.140220914A>G	ENSP00000434655:p.Tyr3Cys		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Y3C	ENST00000531613.1	37	c.8	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	A	5.712	0.315874	0.10789	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.51325	0.76;0.71	3.42	-2.83	0.05769	.	0.760740	0.10645	U	0.650541	T	0.20251	0.0487	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.12156	0.001;0.007	T	0.10382	-1.0632	10	0.35671	T	0.21	.	1.586	0.02644	0.301:0.1641:0.3852:0.1497	.	3;3	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	C	3	ENSP00000434655:Y3C;ENSP00000367363:Y3C	ENSP00000367363:Y3C	Y	+	2	0	PCDHA8	140201098	0.089000	0.21612	0.003000	0.11579	0.005000	0.04900	-0.077000	0.11394	-1.144000	0.02862	-1.811000	0.00612	TAT	PCDHA8	-	NULL	ENSG00000204962		0.473	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0	53	0	A	NM_018911		140220914	1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	14.06	55	9	SNP	0.001	G	G	140220914	A	G	140220914	3	3	48	1	0	0	0	0	1	0	0	0	11569	449	16	4	10	4	PCDHA8	5	140220914	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	5435346	140220914	40694346	56	11600											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229147	140229147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgactatcaaaacgctctCggttcctgtaaaagaggacg	12	10	10	9	3	2	2	1	1	1	1	4	3	3	3	1	2	1	4	1	2	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:140229147C>T	ENST00000532602.1	+	1	2100	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.S356L|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACGCTCTCGGTTCCTGTA	0.502																																					Melanoma(55;1800 1972 14909)												0													133	121	125					5																	140229147		2196	4274	6470	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1067C>T	5.37:g.140229147C>T	ENSP00000436042:p.Ser356Leu		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S356L	ENST00000532602.1	37	c.1067	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013604	0.35511	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.60040	0.22;0.22	3.79	-4.5	0.03493	Cadherin (2);Cadherin-like (1);	0.327925	0.16309	U	0.220089	T	0.52354	0.1729	L	0.60904	1.88	0.09310	N	1	P;B	0.35656	0.514;0.016	B;B	0.31245	0.126;0.006	T	0.51458	-0.8703	10	0.66056	D	0.02	.	21.9528	0.99964	0.0:0.8658:0.1342:0.0	.	356;356	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	L	356	ENSP00000436042:S356L;ENSP00000367362:S356L	ENSP00000367362:S356L	S	+	2	0	PCDHA9	140209331	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.835000	0.04386	-0.779000	0.04560	0.313000	0.20887	TCG	PCDHA9	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204961		0.502	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	51	0	C	NM_031857		140229147	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	missense	21.84	68	19	SNP	0.000	T	T	140229147	C	T	140229147	3	4	48	1	0	0	0	0	1	0	0	0	11570	893	31	1	1069	1	PCDHA9	5	140229147	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	8233	140229147	40686113	57	11601											
PCDHA12	56137	genome.wustl.edu	37	chr5	140255185	140255185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaggaggccaaacacggcaCcttcgtgggccgcatcgctc	8	5	13	15	5	0	0	0	0	0	0	3	2	0	1	3	4	1	3	3	4	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:140255185C>T	ENST00000398631.2	+	1	128	c.128C>T	c.(127-129)aCc>aTc	p.T43I	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	43	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACACGGCACCTTCGTGGGC	0.672																																					Pancreas(113;759 1672 13322 24104 50104)												0													43	50	48					5																	140255185		2203	4300	6503	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.128C>T	5.37:g.140255185C>T	ENSP00000381628:p.Thr43Ile		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T43I	ENST00000398631.2	37	c.128	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811341	0.50527	.	.	ENSG00000251664	ENST00000398631	T	0.45276	0.9	4.96	4.09	0.47781	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.75737	0.3890	H	0.97611	4.04	0.34988	D	0.754719	D;D	0.76494	0.997;0.999	D;D	0.70935	0.914;0.971	D	0.88976	0.3404	9	0.87932	D	0	.	15.0643	0.71980	0.0:0.8572:0.1428:0.0	.	43;43	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	I	43	ENSP00000381628:T43I	ENSP00000381628:T43I	T	+	2	0	PCDHA12	140235369	0.954000	0.32549	0.953000	0.39169	0.215000	0.24574	7.652000	0.83633	1.086000	0.41228	0.591000	0.81541	ACC	PCDHA12	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000251664		0.672	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	80	0	C	NM_018903		140255185	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	14.44	77	13	SNP	0.998	T	T	140255185	C	T	140255185	3	4	48	1	0	0	0	0	1	0	0	0	11561	507	18	3	130	3	PCDHA12	5	140255185	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	26038	140255185	40660075	58	11602											
HTR4	3360	genome.wustl.edu	37	chr5	147863838	147863838	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaccccaagacaggcttcCttgcagtcaaacatctaatg	12	10	7	12	0	2	1	1	0	1	1	3	1	3	1	3	1	3	3	3	1	4	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:147863838C>T	ENST00000377888.3	-	7	1215				HTR4_ENST00000521530.1_Intron|HTR4_ENST00000360693.3_Missense_Mutation_p.R394K|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000520514.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521735.1_Intron	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled						G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	gacaggcttccttgcagtcaa	0.403																																					GBM(120;370 1604 14007 17804 41573)												0													90	89	89					5																	147863838		2203	4300	6503	SO:0001627	intron_variant	0			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5299	protein-coding gene	gene with protein product		602164	"5-hydroxytryptamine (serotonin) receptor 4"			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.1077-982G>A	5.37:g.147863838C>T			C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn	p.R394K	ENST00000377888.3	37	c.1181	CCDS4291.1	5	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588783	0.28357	.	.	ENSG00000164270	ENST00000360693	T	0.70986	-0.53	3.32	3.32	0.38043	.	6.289490	0.00166	N	0.000008	T	0.49966	0.1588	.	.	.	0.31233	N	0.696049	B	0.19200	0.034	B	0.15484	0.013	T	0.47995	-0.9073	9	0.06236	T	0.91	.	10.4094	0.44282	0.0:1.0:0.0:0.0	.	394	Q712M9	.	K	394	ENSP00000353915:R394K	ENSP00000353915:R394K	R	-	2	0	HTR4	147844031	0.002000	0.14202	0.006000	0.13384	0.004000	0.04260	1.291000	0.33330	2.161000	0.67846	0.650000	0.86243	AGG	HTR4	-	NULL	ENSG00000164270		0.403	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR4	HGNC	protein_coding	OTTHUMT00000252187.2		0	17	0	C	NM_000870		147863838	-1			no_errors	ENST00000360693	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.007	T	T	147863838	C	T	147863838	1	4	48	0	1	0	0	0	0	0	0	0	7476	681	24	3		3	HTR4	5	147863838	Intron	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	7608653	147863838	33051422	59	11603											
NMUR2	56923	genome.wustl.edu	37	chr5	151775087	151775087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctccacaaagctgaaGaagagtcggtcaatgtggaa	14	7	10	10	1	1	3	1	1	0	2	4	4	3	4	2	2	1	1	2	2	5	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:151775087G>T	ENST00000255262.3	-	3	1035	c.870C>A	c.(868-870)ttC>ttA	p.F290L	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	290					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAAAGCTGAAGAAGAGTCGGT	0.483																																																	0													156	136	143					5																	151775087		2203	4300	6503	SO:0001583	missense	0			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.870C>A	5.37:g.151775087G>T	ENSP00000255262:p.Phe290Leu		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	p.F290L	ENST00000255262.3	37	c.870	CCDS4321.1	5	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559023	0.45590	.	.	ENSG00000132911	ENST00000255262	T	0.34072	1.38	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	N	0.02665	-0.54	0.53688	D	0.999977	P	0.48503	0.911	P	0.49752	0.621	T	0.11717	-1.0576	10	0.06494	T	0.89	-40.6947	19.0512	0.93046	0.0:0.0:1.0:0.0	.	290	Q9GZQ4	NMUR2_HUMAN	L	290	ENSP00000255262:F290L	ENSP00000255262:F290L	F	-	3	2	NMUR2	151755280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.420000	0.59841	2.735000	0.93741	0.655000	0.94253	TTC	NMUR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn	ENSG00000132911		0.483	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	HGNC	protein_coding	OTTHUMT00000252439.1	-	0	32	0	G	NM_020167		151775087	-1	tier1	-	no_errors	ENST00000255262	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	151775087	G	T	151775087	3	4	48	1	0	0	0	0	1	0	0	0	10546	933	33	3	385	3	NMUR2	5	151775087	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	3911249	151775087	29140173	60	11604											
GALNT10	55568	genome.wustl.edu	37	chr5	153674404	153674404	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcgacaaaagaaaacgtTtttcttgggagatgggcaga	14	9	12	6	2	1	3	0	0	1	3	2	5	1	3	0	2	1	2	0	2	4	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:153674404T>G	ENST00000297107.6	+	2	325	c.188T>G	c.(187-189)tTt>tGt	p.F63C	GALNT10_ENST00000377661.2_Missense_Mutation_p.F63C|GALNT10_ENST00000425427.2_Missense_Mutation_p.F63C	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	63					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AAGAAAACGTTTTTCTTGGGA	0.498																																																	0													88	84	85					5																	153674404		2203	4300	6503	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.188T>G	5.37:g.153674404T>G	ENSP00000297107:p.Phe63Cys		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F63C	ENST00000297107.6	37	c.188	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	T	14.00	2.405020	0.42613	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.56611	0.67;0.45;0.53	5.32	2.92	0.33932	.	0.541572	0.15568	U	0.255619	T	0.46814	0.1412	M	0.62088	1.915	0.09310	N	1	B;P	0.38711	0.291;0.643	B;B	0.37346	0.125;0.247	T	0.33394	-0.9870	10	0.38643	T	0.18	.	8.0849	0.30767	0.0:0.2706:0.0:0.7294	.	63;63	Q86SR1;Q86SR1-3	GLT10_HUMAN;.	C	63	ENSP00000415210:F63C;ENSP00000297107:F63C;ENSP00000366889:F63C	ENSP00000297107:F63C	F	+	2	0	GALNT10	153654597	0.089000	0.21612	0.028000	0.17463	0.556000	0.35491	0.658000	0.24979	0.978000	0.38470	0.528000	0.53228	TTT	GALNT10	-	NULL	ENSG00000164574		0.498	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	-	0	38	0	T	NM_198321		153674404	1	tier1	-	no_errors	ENST00000297107	ensembl	human	known	74_37	missense	8.33	66	6	SNP	0.002	G	G	153674404	T	G	153674404	3	3	48	1	0	0	0	0	1	0	0	0	6233	1841	64	4	194	4	GALNT10	5	153674404	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	1899317	153674404	27240856	61	11605											
GABRA1	2554	genome.wustl.edu	37	chr5	161292738	161292738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcaacagagcgtgtaaccGaagtgaagactgatatcttc	13	10	9	9	2	2	4	1	2	1	2	3	5	2	4	1	0	3	1	1	0	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr5:161292738G>A	ENST00000428797.2	+	5	554	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	GABRA1_ENST00000393943.4_Missense_Mutation_p.E67K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E67K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E67K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E67K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E67K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	67					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCGTGTAACCGAAGTGAAGAC	0.423																																																	0													197	175	183					5																	161292738		2203	4300	6503	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.199G>A	5.37:g.161292738G>A	ENSP00000393097:p.Glu67Lys		D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.E67K	ENST00000428797.2	37	c.199	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349975	0.61183	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.12;-1.2;-1.12;-1.2;-1.2	5.33	5.33	0.75918	Neurotransmitter-gated ion-channel ligand-binding (3);	0.129460	0.52532	D	0.000077	T	0.72914	0.3520	L	0.48935	1.535	0.80722	D	1	B	0.18310	0.027	B	0.21708	0.036	T	0.67488	-0.5658	10	0.14656	T	0.56	.	19.0266	0.92934	0.0:0.0:1.0:0.0	.	67	P14867	GBRA1_HUMAN	K	67;67;67;67;73;67;67;67;67	ENSP00000023897:E67K;ENSP00000393097:E67K;ENSP00000377517:E67K;ENSP00000415441:E67K;ENSP00000430895:E73K;ENSP00000408041:E67K;ENSP00000430507:E67K;ENSP00000414232:E67K;ENSP00000430435:E67K	ENSP00000023897:E67K	E	+	1	0	GABRA1	161225316	1.000000	0.71417	0.984000	0.44739	0.820000	0.46376	7.890000	0.87313	2.487000	0.83934	0.557000	0.71058	GAA	GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	ENSG00000022355		0.423	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0	20	0	G	NM_000806.5		161292738	1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	A	A	161292738	G	A	161292738	3	1	48	1	0	0	0	0	1	0	0	0	6184	1059	37	1	209	1	GABRA1	5	161292738	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	7618334	161292738	19622522	62	11606											
JARID2	3720	genome.wustl.edu	37	chr6	15513155	15513155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctctttcaggaaatgaagCgtcgccatatagctaagcca	12	10	8	11	2	2	1	1	1	1	0	4	2	3	2	3	1	3	1	3	1	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr6:15513155C>T	ENST00000341776.2	+	15	3389	c.3145C>T	c.(3145-3147)Cgt>Tgt	p.R1049C	JARID2_ENST00000397311.3_Missense_Mutation_p.R877C	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1049					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGAAATGAAGCGTCGCCATAT	0.478																																																	0													173	185	181					6																	15513155		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3145C>T	6.37:g.15513155C>T	ENSP00000341280:p.Arg1049Cys		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R1049C	ENST00000341776.2	37	c.3145	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662257	0.29515	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.72282	-0.64;-0.64	4.14	3.26	0.37387	.	0.048145	0.85682	D	0.000000	T	0.31040	0.0784	N	0.11560	0.145	0.53688	D	0.999979	B	0.15719	0.014	B	0.08055	0.003	T	0.19353	-1.0308	10	0.41790	T	0.15	-8.014	8.7386	0.34543	0.1491:0.7688:0.0:0.0821	.	1049	Q92833	JARD2_HUMAN	C	1049;877	ENSP00000341280:R1049C;ENSP00000380478:R877C	ENSP00000341280:R1049C	R	+	1	0	JARID2	15621134	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.438000	0.52871	1.088000	0.41272	0.609000	0.83330	CGT	JARID2	-	NULL	ENSG00000008083		0.478	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	-	0	14	0	C	NM_004973		15513155	1	tier1	-	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	T	T	15513155	C	T	15513155	3	4	48	1	0	0	0	0	1	0	0	0	7972	768	27	1	3203	1	JARID2	6	15513155	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		15513155	155601912	63	11607											
STK38	11329	genome.wustl.edu	37	chr6	36483172	36483172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggatgaatccaagttgGtgaatagagtctatggctaa	12	12	12	5	0	1	3	0	2	1	1	2	4	2	4	1	3	0	2	1	3	6	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr6:36483172G>T	ENST00000229812.7	-	7	897	c.612C>A	c.(610-612)caC>caA	p.H204Q		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCCAAGTTGGTGAATAGAGT	0.428																																					Colon(180;997 3561 16158)												0													245	210	222					6																	36483172		2203	4300	6503	SO:0001583	missense	0				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.612C>A	6.37:g.36483172G>T	ENSP00000229812:p.His204Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.H204Q	ENST00000229812.7	37	c.612	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625275	0.66901	.	.	ENSG00000112079	ENST00000229812	D	0.84516	-1.86	5.78	3.77	0.43336	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89938	0.6860	M	0.87547	2.89	0.80722	D	1	D	0.63046	0.992	D	0.70227	0.968	D	0.90875	0.4749	10	0.87932	D	0	.	9.054	0.36394	0.314:0.0:0.686:0.0	.	204	Q15208	STK38_HUMAN	Q	204	ENSP00000229812:H204Q	ENSP00000229812:H204Q	H	-	3	2	STK38	36591150	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.961000	0.29267	1.450000	0.47717	0.655000	0.94253	CAC	STK38	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112079		0.428	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1		0	44	0	G	NM_007271		36483172	-1			no_errors	ENST00000229812	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	36483172	G	T	36483172	3	4	48	1	0	0	0	0	1	0	0	0	15350	1252	44	3	817	3	STK38	6	36483172	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	20970017	36483172	134631895	64	11608											
COL21A1	81578	genome.wustl.edu	37	chr6	56029249	56029249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagtcctggttttcccGgaggacaaatacagggagct	10	10	12	9	1	0	1	0	1	0	0	2	4	2	4	2	4	2	2	2	4	3	4	rs529924012		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr6:56029249G>A	ENST00000244728.5	-	9	1740	c.1343C>T	c.(1342-1344)cCg>cTg	p.P448L	COL21A1_ENST00000535941.1_Missense_Mutation_p.P448L|COL21A1_ENST00000370819.1_Missense_Mutation_p.P445L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	448	Collagen-like 1.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGTTTTCCCGGAGGACAAAT	0.423													G|||	1	0.000199681	0	0	5008	,	,		16703	0.001		0	False		,,,				2504	0																0																																										SO:0001583	missense	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1343C>T	6.37:g.56029249G>A	ENSP00000244728:p.Pro448Leu		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P448L	ENST00000244728.5	37	c.1343	CCDS55025.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.03|15.03	2.712207|2.712207	0.48517|0.48517	.|.	.|.	ENSG00000124749|ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811|ENST00000456983	D;D;D|.	0.98684|.	-5.07;-5.07;-5.07|.	5.26|5.26	3.49|3.49	0.39957|0.39957	.|.	0.000000|.	0.56097|.	D|.	0.000035|.	T|T	0.70815|0.70815	0.3267|0.3267	M|M	0.89030|0.89030	3|3	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79784|.	0.991;0.993|.	T|T	0.75227|0.75227	-0.3392|-0.3392	10|5	0.52906|.	T|.	0.07|.	.|.	11.9825|11.9825	0.53127|0.53127	0.1413:0.0:0.8587:0.0|0.1413:0.0:0.8587:0.0	.|.	445;448|.	Q96P44-3;Q96P44|.	.;COLA1_HUMAN|.	L|W	448;445;448;445|33	ENSP00000244728:P448L;ENSP00000359855:P445L;ENSP00000444384:P448L|.	ENSP00000244728:P448L|.	P|R	-|-	2|1	0|2	COL21A1|COL21A1	56137208|56137208	1.000000|1.000000	0.71417|0.71417	0.820000|0.820000	0.32676|0.32676	0.882000|0.882000	0.50991|0.50991	6.422000|6.422000	0.73357|0.73357	0.725000|0.725000	0.32318|0.32318	-0.142000|-0.142000	0.14014|0.14014	CCG|CGG	COL21A1	-	NULL	ENSG00000124749		0.423	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2	-	0	34	0	G			56029249	-1	tier1	-	no_errors	ENST00000244728	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.996	A	A	56029249	G	A	56029249	3	1	48	1	0	0	0	0	1	0	0	0	3687	1116	39	1	1618	1	COL21A1	6	56029249	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	19546077	56029249	115085818	65	11609											
MTO1	25821	genome.wustl.edu	37	chr6	74190435	74190435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacttagatccccgtcaGatcaccccttccttggagac	9	11	7	14	1	2	3	2	0	0	3	4	5	4	3	5	1	1	0	5	1	2	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr6:74190435G>T	ENST00000370300.4	+	8	1332	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	MTO1_ENST00000498286.1_Missense_Mutation_p.Q389H|MTO1_ENST00000415954.2_Missense_Mutation_p.Q389H|MTO1_ENST00000370305.1_Missense_Mutation_p.Q340H	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	414					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						ATCCCCGTCAGATCACCCCTT	0.433																																																	0													200	180	187					6																	74190435		2203	4300	6503	SO:0001583	missense	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.1242G>T	6.37:g.74190435G>T	ENSP00000359323:p.Gln414His		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.Q389H	ENST00000370300.4	37	c.1167	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279751	0.59758	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.15	3.34	0.38264	.	0.056533	0.64402	N	0.000001	D	0.83686	0.5308	M	0.84082	2.675	0.53005	D	0.999967	D;P;D;D	0.89917	1.0;0.687;1.0;1.0	D;B;D;D	0.85130	0.996;0.259;0.996;0.997	D	0.85075	0.0942	10	0.72032	D	0.01	-5.5524	10.6946	0.45892	0.0725:0.1322:0.7953:0.0	.	389;292;389;414	Q9Y2Z2-6;Q9Y2Z2-2;Q9Y2Z2-4;Q9Y2Z2	.;.;.;MTO1_HUMAN	H	389;389;292;340;414	ENSP00000402038:Q389H;ENSP00000419561:Q389H;ENSP00000359328:Q340H;ENSP00000359323:Q414H	ENSP00000350506:Q292H	Q	+	3	2	MTO1	74247156	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	2.953000	0.49105	0.542000	0.28846	-0.282000	0.10007	CAG	MTO1	-	pfam_GIDA-rel,tigrfam_GidA	ENSG00000135297		0.433	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2		0	92	0	G	NM_012123		74190435	1			no_errors	ENST00000415954	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	74190435	G	T	74190435	3	4	48	1	0	0	0	0	1	0	0	0	9991	933	33	3	1272	3	MTO1	6	74190435	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	18161186	74190435	96924632	66	11610											
GRIK2	2898	genome.wustl.edu	37	chr6	102376297	102376297	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactctctgttaggttctgaGctcatgcccaaagcactgtc	8	12	8	13	0	3	1	1	1	2	0	5	1	3	1	1	1	3	4	1	1	2	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr6:102376297G>A	ENST00000421544.1	+	13	2365	c.1875G>A	c.(1873-1875)gaG>gaA	p.E625E	GRIK2_ENST00000369138.1_Silent_p.E625E|GRIK2_ENST00000369134.4_Silent_p.E576E|GRIK2_ENST00000318991.6_Silent_p.E625E|GRIK2_ENST00000369137.3_Silent_p.E549E|GRIK2_ENST00000413795.1_Silent_p.E625E	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	625					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TAGGTTCTGAGCTCATGCCCA	0.438																																																	0													127	111	116					6																	102376297		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1875G>A	6.37:g.102376297G>A			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E625	ENST00000421544.1	37	c.1875	CCDS5048.1	6																																																																																			GRIK2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000164418		0.438	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0	66	0	G			102376297	1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	silent	10.94	56	7	SNP	1.000	A	A	102376297	G	A	102376297	2	1	48	1	0	0	0	0	0	0	0	1	6801	962	34	3		3	GRIK2	6	102376297	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	28185862	102376297	68738770	67	11611											
SDK1	221935	genome.wustl.edu	37	chr7	4051852	4051852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcacaacggggtgttgcGtggatacatcctcaggcaag	11	7	14	9	2	1	1	1	0	0	1	2	2	2	2	1	4	4	3	1	4	3	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:4051852G>A	ENST00000404826.2	+	16	2544	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	SDK1_ENST00000389531.3_Missense_Mutation_p.R802H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	802	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGGGTGTTGCGTGGATACATC	0.527																																																	0													105	104	104					7																	4051852		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2405G>A	7.37:g.4051852G>A	ENSP00000385899:p.Arg802His		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R802H	ENST00000404826.2	37	c.2405	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	7.207	0.594688	0.13875	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57752	0.38;0.38	5.15	1.93	0.25924	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.307383	0.28482	N	0.015195	T	0.41581	0.1165	L	0.52823	1.66	0.09310	N	0.999999	B;B	0.18310	0.027;0.024	B;B	0.14023	0.008;0.01	T	0.30851	-0.9964	10	0.42905	T	0.14	.	5.352	0.16040	0.6128:0.0:0.3872:0.0	.	802;802	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	H	802	ENSP00000385899:R802H;ENSP00000374182:R802H	ENSP00000374182:R802H	R	+	2	0	SDK1	4018378	0.028000	0.19301	0.370000	0.25965	0.175000	0.22909	1.586000	0.36611	0.580000	0.29522	0.563000	0.77884	CGT	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.527	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	24	0	G	NM_152744		4051852	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	15.09	45	8	SNP	0.079	A	A	4051852	G	A	4051852	3	1	48	1	0	0	0	0	1	0	0	0	14013	1145	40	1	2467	1	SDK1	7	4051852	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09		4051852	155086811	68	11612											
TWISTNB	221830	genome.wustl.edu	37	chr7	19739848	19739848	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaggaatggaggcattgAaacacccatgtactaaacag	15	9	10	7	0	0	1	0	1	0	0	0	3	0	3	1	3	3	3	1	3	6	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:19739848A>T	ENST00000222567.5	-	3	522	c.452T>A	c.(451-453)tTc>tAc	p.F151Y		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	151					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGAGGCATTGAAACACCCATG	0.408																																																	0													96	87	90					7																	19739848		2203	4300	6503	SO:0001583	missense	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.452T>A	7.37:g.19739848A>T	ENSP00000222567:p.Phe151Tyr		A0PJ45|B7Z724	Missense_Mutation	SNP	pfam_RNA_pol_Rpb7_N	p.F151Y	ENST00000222567.5	37	c.452	CCDS34606.1	7	.	.	.	.	.	.	.	.	.	.	A	29.0	4.970262	0.92855	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80327	-0.1429	9	0.87932	D	0	-16.9254	16.4461	0.83932	1.0:0.0:0.0:0.0	.	151	Q3B726	RPA43_HUMAN	Y	151	.	ENSP00000222567:F151Y	F	-	2	0	TWISTNB	19706373	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	8.531000	0.90610	2.285000	0.76669	0.528000	0.53228	TTC	TWISTNB	-	NULL	ENSG00000105849		0.408	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1		0	38	0	A			19739848	-1			no_errors	ENST00000222567	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	19739848	A	T	19739848	3	4	48	1	0	0	0	0	1	0	0	0	16833	246	9	5	572	5	TWISTNB	7	19739848	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	15687996	19739848	139398815	69	11613											
ELMO1	9844	genome.wustl.edu	37	chr7	37264526	37264526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgatggtgatctcctgcGccactttctggtagaggtca	6	11	13	11	2	3	2	1	1	2	1	4	3	3	2	3	4	1	1	3	4	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:37264526G>A	ENST00000310758.4	-	9	1306	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ELMO1_ENST00000442504.1_Missense_Mutation_p.A220V|ELMO1_ENST00000448602.1_Missense_Mutation_p.A220V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	220					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCTCCTGCGCCACTTTCTG	0.527																																																	0													131	111	118					7																	37264526		2203	4300	6503	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.659C>T	7.37:g.37264526G>A	ENSP00000312185:p.Ala220Val		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.A220V	ENST00000310758.4	37	c.659	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.557403	0.96514	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T	0.45276	0.9;0.9;0.9	5.4	5.4	0.78164	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.54715	-0.8252	10	0.31617	T	0.26	.	19.5556	0.95345	0.0:0.0:1.0:0.0	.	220	Q92556	ELMO1_HUMAN	V	220;124;220;220	ENSP00000312185:A220V;ENSP00000406952:A220V;ENSP00000394458:A220V	ENSP00000312185:A220V	A	-	2	0	ELMO1	37231051	1.000000	0.71417	0.963000	0.40424	0.901000	0.52897	9.864000	0.99589	2.693000	0.91896	0.655000	0.94253	GCG	ELMO1	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000155849		0.527	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	60	0	G	NM_130442		37264526	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	A	A	37264526	G	A	37264526	3	1	48	1	0	0	0	0	1	0	0	0	5081	1087	38	1	1580	1	ELMO1	7	37264526	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	17524678	37264526	121874137	70	11614											
ADCY1	107	genome.wustl.edu	37	chr7	45753493	45753493	+	Frame_Shift_Del	DEL	C	C	-																															ctggccttcagggcagacgtCcccccgtgtgccccatgcct																								rs529767948		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:45753493delC	ENST00000297323.7	+	20	3281	c.3259delC	c.(3259-3261)cccfs	p.P1088fs		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1088					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCAGACGTCCCCCCGTGTG	0.617																																																	0													79	74	76					7																	45753493		2203	4300	6503	SO:0001589	frameshift_variant	0			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"Adenylate cyclases"	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3259delC	7.37:g.45753493delC	ENSP00000297323:p.Pro1088fs		A4D2L8|Q75MI1	Frame_Shift_Del	DEL	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1089fs	ENST00000297323.7	37	c.3259	CCDS34631.1	7																																																																																			ADCY1	-	NULL	ENSG00000164742		0.617	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2		0	58	0	C	NM_021116		45753493	1	tier1		no_errors	ENST00000297323	ensembl	human	known	74_37	frame_shift_del	15.49	60	11	DEL	0.993	-	-	45753493	C	-	45753493	7	5	48	1	0	1	0	1	0	0	0	0	292	855	30	0	3337	0	ADCY1	7	45753493	Frame_Shift_Del	DEL	C	TCGA-L5-A43C-01A-11D-A247-09	8488967	45753493	113385170	71	11615											
MUC17	140453	genome.wustl.edu	37	chr7	100693828	100693828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacacaccagaatacaaGacagtattggacaatgccac	18	6	7	10	0	0	2	0	0	0	2	0	3	0	3	2	1	3	2	2	1	7	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:100693828G>T	ENST00000306151.4	+	7	12850	c.12786G>T	c.(12784-12786)aaG>aaT	p.K4262N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4262	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGAATACAAGACAGTATTGG	0.453																																																	0													166	144	152					7																	100693828		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12786G>T	7.37:g.100693828G>T	ENSP00000302716:p.Lys4262Asn		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.K4262N	ENST00000306151.4	37	c.12786	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	5.520	0.280823	0.10458	.	.	ENSG00000169876	ENST00000306151	T	0.38560	1.13	4.52	1.65	0.23941	SEA (2);	.	.	.	.	T	0.41650	0.1168	N	0.19112	0.55	0.09310	N	1	D	0.67145	0.996	D	0.63703	0.917	T	0.16897	-1.0387	9	0.54805	T	0.06	.	6.3288	0.21259	0.3263:0.0:0.6737:0.0	.	4262	Q685J3	MUC17_HUMAN	N	4262	ENSP00000302716:K4262N	ENSP00000302716:K4262N	K	+	3	2	MUC17	100480548	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.004000	0.12878	0.536000	0.28733	0.655000	0.94253	AAG	MUC17	-	pfam_SEA_dom,smart_SEA_dom	ENSG00000169876		0.453	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	22	0	G	NM_001040105		100693828	1			no_errors	ENST00000306151	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	100693828	G	T	100693828	3	4	48	1	0	0	0	0	1	0	0	0	10012	933	33	3	12812	3	MUC17	7	100693828	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	54940335	100693828	58444835	72	11616											
CPA5	93979	genome.wustl.edu	37	chr7	130007803	130007803	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtccatgggatcgagtaCatttttggcagcatcagcac	11	10	11	9	1	1	0	1	0	0	0	3	2	2	1	1	3	3	4	1	3	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:130007803C>A	ENST00000485477.1	+	11	2224	c.1095C>A	c.(1093-1095)taC>taA	p.Y365*	CPA5_ENST00000461828.1_Nonsense_Mutation_p.Y365*|CPA5_ENST00000355388.3_Nonsense_Mutation_p.Y365*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.Y365*|CPA5_ENST00000393213.3_Nonsense_Mutation_p.Y365*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.Y365*|CPA5_ENST00000431780.2_Intron			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	365						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GGATCGAGTACATTTTTGGCA	0.597																																																	0													141	102	115					7																	130007803		2203	4300	6503	SO:0001587	stop_gained	0			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1095C>A	7.37:g.130007803C>A	ENSP00000420237:p.Tyr365*		G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Nonsense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.Y365*	ENST00000485477.1	37	c.1095	CCDS5819.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.298189	0.98747	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	.	.	.	6.06	5.17	0.71159	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7486	0.69508	0.0:0.9304:0.0:0.0696	.	.	.	.	X	365	.	.	Y	+	3	2	CPA5	129795039	1.000000	0.71417	0.908000	0.35775	0.141000	0.21300	4.471000	0.60182	1.551000	0.49450	0.655000	0.94253	TAC	CPA5	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000158525		0.597	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1	-	0	52	0	C	NM_001127441		130007803	1	tier1	-	no_errors	ENST00000355388	ensembl	human	known	74_37	nonsense	28.07	41	16	SNP	1.000	A	A	130007803	C	A	130007803	4	1	48	1	0	0	0	0	0	1	0	0	3800	489	17	3	1133	3	CPA5	7	130007803	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	29313975	130007803	29130860	73	11617											
DENND2A	27147	genome.wustl.edu	37	chr7	140301551	140301551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtccgaggggtggaccCtctggctgacttctgagcca	6	8	14	13	1	2	2	0	2	2	0	3	4	3	3	4	5	1	1	4	5	0	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:140301551C>T	ENST00000275884.6	-	2	1064	c.647G>A	c.(646-648)aGg>aAg	p.R216K	DENND2A_ENST00000537639.1_Missense_Mutation_p.R216K|DENND2A_ENST00000492720.1_Missense_Mutation_p.R216K|DENND2A_ENST00000496613.1_Missense_Mutation_p.R216K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	216					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGGGTGGACCCTCTGGCTGAC	0.632																																																	0													72	73	73					7																	140301551		1924	4140	6064	SO:0001583	missense	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.647G>A	7.37:g.140301551C>T	ENSP00000275884:p.Arg216Lys		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R216K	ENST00000275884.6	37	c.647	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.271192	0.01421	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.09911	3.66;3.66;3.66;2.93	4.87	2.02	0.26589	.	1.077610	0.07020	N	0.826560	T	0.13670	0.0331	N	0.22421	0.69	0.09310	N	1	D;P	0.58970	0.984;0.865	D;P	0.63793	0.918;0.497	T	0.17471	-1.0368	10	0.05721	T	0.95	-5.8983	6.5432	0.22392	0.0:0.6928:0.1477:0.1595	.	216;216	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	216	ENSP00000275884:R216K;ENSP00000442245:R216K;ENSP00000419654:R216K;ENSP00000419464:R216K	ENSP00000275884:R216K	R	-	2	0	DENND2A	139948020	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.445000	0.35079	0.244000	0.21351	-0.258000	0.10820	AGG	DENND2A	-	NULL	ENSG00000146966		0.632	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	-	0	27	0	C	NM_015689		140301551	-1	tier1	-	no_errors	ENST00000275884	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.001	T	T	140301551	C	T	140301551	3	4	48	1	0	0	0	0	1	0	0	0	4443	681	24	3	2454	3	DENND2A	7	140301551	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	10293748	140301551	18837112	74	11618											
MLL3	58508	genome.wustl.edu	37	chr7	151884535	151884536	+	Frame_Shift_Ins	INS	-	-	TT																															gttgttaggatcacttgccaINSttggattaaaggctgaattt																								rs145959904		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr7:151884535_151884536insTT	ENST00000262189.6	-	33	5037_5038	c.4819_4820insAA	c.(4819-4821)atgfs	p.M1607fs	KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.M1607fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1607					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATCACTTGCCATTGGATTAAAG	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4818_4819dupAA	7.37:g.151884536_151884537dupTT	ENSP00000262189:p.Met1607fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.M1607fs	ENST00000262189.6	37	c.4820_4819	CCDS5931.1	7																																																																																			KMT2C	-	NULL	ENSG00000055609		0.361	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3		0	97	0	-			151884536	-1	tier1		no_errors	ENST00000355193	ensembl	human	known	74_37	frame_shift_ins	26.76	104	38	INS	0.421:0.324	TT	TT	151884536	-	TT	151884535	7	5	48	1	0	1	1	0	0	0	0	0	9660	217	8	0	10023	0	MLL3	7	151884535	Frame_Shift_Ins	INS	-	TCGA-L5-A43C-01A-11D-A247-09	11582984	151884535	7254128	75	11619											
INTS10	55174	genome.wustl.edu	37	chr8	19701701	19701701	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagctgtcaataaaattTgccaacaaggaaatttccaa	18	10	6	7	0	1	1	1	1	0	0	2	2	2	2	2	1	3	1	2	1	8	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr8:19701701T>A	ENST00000397977.3	+	15	2232	c.1834T>A	c.(1834-1836)Tgc>Agc	p.C612S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	612					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAATAAAATTTGCCAACAAGG	0.373																																																	0													63	62	62					8																	19701701		1835	4098	5933	SO:0001583	missense	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1834T>A	8.37:g.19701701T>A	ENSP00000381064:p.Cys612Ser		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.C612S	ENST00000397977.3	37	c.1834	CCDS6011.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.42|18.42	3.619967|3.619967	0.66787|0.66787	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000397977|ENST00000523772	T|.	0.40756|.	1.02|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.039864|.	0.85682|.	D|.	0.000000|.	T|T	0.63165|0.63165	0.2488|0.2488	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	P|.	0.48627|.	0.584|.	T|T	0.59873|0.59873	-0.7372|-0.7372	9|5	.|.	.|.	.|.	-17.047|-17.047	15.4367|15.4367	0.75152|0.75152	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	612|.	Q9NVR2|.	INT10_HUMAN|.	S|L	612|48	ENSP00000381064:C612S|.	.|.	C|F	+|+	1|3	0|2	INTS10|INTS10	19745981|19745981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.874000|5.874000	0.69652|0.69652	2.322000|2.322000	0.78497|0.78497	0.528000|0.528000	0.53228|0.53228	TGC|TTT	INTS10	-	NULL	ENSG00000104613		0.373	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2		0	29	0	T	NM_018142		19701701	1			no_errors	ENST00000397977	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	A	A	19701701	T	A	19701701	3	1	48	1	0	0	0	0	1	0	0	0	7803	1812	63	5	1892	5	INTS10	8	19701701	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09		19701701	126662321	76	11620											
ADAM28	10863	genome.wustl.edu	37	chr8	24181395	24181395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttagttggtatggaaatcTggactgacaaggataagata	14	11	11	5	0	1	2	0	1	1	1	1	5	1	5	1	4	0	2	1	4	6	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr8:24181395T>C	ENST00000265769.4	+	9	879	c.769T>C	c.(769-771)Tgg>Cgg	p.W257R	ADAM28_ENST00000540823.1_Missense_Mutation_p.W24R|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.W257R|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.W4R|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	257	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TATGGAAATCTGGACTGACAA	0.363																																					NSCLC(193;488 2149 22258 34798 40734)												0													93	93	93					8																	24181395		2203	4299	6502	SO:0001583	missense	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.769T>C	8.37:g.24181395T>C	ENSP00000265769:p.Trp257Arg		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.W257R	ENST00000265769.4	37	c.769	CCDS34865.1	8	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584963	0.66105	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.19	5.19	0.71726	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.95535	0.8549	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96379	0.9280	9	0.87932	D	0	.	11.4396	0.50090	0.0:0.0:0.0:1.0	.	24;257;257	B4DDY3;Q9UKQ2;Q9UKQ2-2	.;ADA28_HUMAN;.	R	257;4;24;257	ENSP00000265769:W257R;ENSP00000380770:W4R;ENSP00000443743:W24R;ENSP00000393699:W257R	ENSP00000265769:W257R	W	+	1	0	ADAM28	24237340	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.548000	0.67255	1.955000	0.56771	0.528000	0.53228	TGG	ADAM28	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000042980		0.363	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	-	0	34	0	T	NM_021778		24181395	1	tier1	-	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	C	C	24181395	T	C	24181395	3	2	48	1	0	0	0	0	1	0	0	0	246	1580	55	4	803	4	ADAM28	8	24181395	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	4479694	24181395	122182627	77	11621											
NPBWR1	2831	genome.wustl.edu	37	chr8	53852892	53852892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtggtgttggccactgCggagtcgcgccgggtggccg	2	8	19	12	5	0	0	0	0	0	0	1	1	0	1	4	6	1	1	4	6	0	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr8:53852892C>T	ENST00000331251.3	+	1	1902	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	142					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGGCCACTGCGGAGTCGCGC	0.667																																																	0													21	23	22					8																	53852892		2199	4288	6487	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.425C>T	8.37:g.53852892C>T	ENSP00000330284:p.Ala142Val		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.A142V	ENST00000331251.3	37	c.425	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	C	5.068	0.198162	0.09652	.	.	ENSG00000183729	ENST00000331251	T	0.36157	1.27	5.06	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.511994	0.17463	N	0.173368	T	0.08802	0.0218	N	0.00742	-1.23	0.34296	D	0.683829	B	0.25904	0.137	B	0.17722	0.019	T	0.29610	-1.0006	10	0.05351	T	0.99	.	8.1352	0.31050	0.0:0.7771:0.0:0.2229	.	142	P48145	NPBW1_HUMAN	V	142	ENSP00000330284:A142V	ENSP00000330284:A142V	A	+	2	0	NPBWR1	54015445	1.000000	0.71417	0.801000	0.32222	0.479000	0.33129	3.843000	0.55865	2.623000	0.88846	0.655000	0.94253	GCG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt	ENSG00000183729		0.667	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0	60	0	C	NM_005285		53852892	1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	17.12	92	19	SNP	0.930	T	T	53852892	C	T	53852892	3	4	48	1	0	0	0	0	1	0	0	0	10607	768	27	1	427	1	NPBWR1	8	53852892	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	29671497	53852892	92511130	78	11622											
TGS1	96764	genome.wustl.edu	37	chr8	56699011	56699011	+	Frame_Shift_Del	DEL	A	A	-																															gacagaaaatcctccagttgAaaacacattatctccaaagc																										TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr8:56699011delA	ENST00000260129.5	+	4	1031	c.554delA	c.(553-555)gaafs	p.E185fs		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	185					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			CCTCCAGTTGAAAACACATTA	0.358																																					Esophageal Squamous(34;275 823 4842 34837 48447)												0													72	75	74					8																	56699011		2203	4300	6503	SO:0001589	frameshift_variant	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"nuclear receptor coactivator 6 interacting protein", "trimethylguanosine synthase homolog (S. cerevisiae)"	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.554delA	8.37:g.56699011delA	ENSP00000260129:p.Glu185fs		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Frame_Shift_Del	DEL	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.N186fs	ENST00000260129.5	37	c.554	CCDS34894.1	8																																																																																			TGS1	-	NULL	ENSG00000137574		0.358	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1		0	26	0	A	NM_024831		56699011	1	tier1		no_errors	ENST00000260129	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	1.000	-	-	56699011	A	-	56699011	7	5	48	1	0	1	0	1	0	0	0	0	15884	246	9	0	568	0	TGS1	8	56699011	Frame_Shift_Del	DEL	A	TCGA-L5-A43C-01A-11D-A247-09	2846119	56699011	89665011	79	11623											
SULF1	23213	genome.wustl.edu	37	chr8	70501314	70501314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgatcagccacgctgcgccCcacggccccgaggactcagc	7	4	12	18	4	2	1	2	1	0	0	2	3	2	2	5	2	3	1	5	2	0	0	rs368146472		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr8:70501314C>T	ENST00000260128.4	+	8	1389	c.672C>T	c.(670-672)ccC>ccT	p.P224P	SULF1_ENST00000402687.4_Silent_p.P224P|SULF1_ENST00000458141.2_Silent_p.P224P|SULF1_ENST00000419716.3_Silent_p.P224P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	224					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACGCTGCGCCCCACGGCCCCG	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		19697	0		0	False		,,,				2504	0																0								C	,,,	5,4401	9.9+/-24.2	0,5,2198	78	70	73		672,672,672,672	3.7	1	8		73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	,,,	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	,,,	224/872,224/872,224/872,224/872	70501314	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.672C>T	8.37:g.70501314C>T			Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.P224	ENST00000260128.4	37	c.672	CCDS6204.1	8																																																																																			SULF1	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.483	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	28	0	C	NM_015170		70501314	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	silent	19.64	45	11	SNP	1.000	T	T	70501314	C	T	70501314	2	4	48	1	0	0	0	0	0	0	0	1	15417	610	22	3		3	SULF1	8	70501314	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	13802303	70501314	75862708	80	11624											
PGCP	10404	genome.wustl.edu	37	chr8	97797153	97797153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttatcttcgcatttttcGgtggtgttcaccttttatcc	4	20	6	11	2	2	0	1	0	1	0	6	0	4	0	3	2	0	2	3	2	2	7	rs369831003		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr8:97797153G>T	ENST00000220763.5	+	2	238	c.28G>T	c.(28-30)Ggt>Tgt	p.G10C		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	10					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CGCATTTTTCGGTGGTGTTCA	0.338																																																	0													83	84	83					8																	97797153		2203	4300	6503	SO:0001583	missense	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.28G>T	8.37:g.97797153G>T	ENSP00000220763:p.Gly10Cys		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.G10C	ENST00000220763.5	37	c.28	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	G	8.025	0.760387	0.15914	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.44482	0.92;0.92	5.4	4.51	0.55191	.	0.411951	0.24267	N	0.040038	T	0.32556	0.0833	L	0.47716	1.5	0.09310	N	1	B;B	0.15719	0.014;0.008	B;B	0.18561	0.022;0.012	T	0.21348	-1.0248	10	0.38643	T	0.18	-2.1546	5.3545	0.16053	0.1232:0.0:0.6803:0.1965	.	10;10	B5MDX4;Q9Y646	.;PGCP_HUMAN	C	10	ENSP00000220763:G10C;ENSP00000429146:G10C	ENSP00000220763:G10C	G	+	1	0	AC010859.1	97866329	0.212000	0.23540	0.002000	0.10522	0.094000	0.18550	1.134000	0.31442	1.262000	0.44165	0.563000	0.77884	GGT	CPQ	-	NULL	ENSG00000104324		0.338	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2		0	23	0	G	NM_016134		97797153	1			no_errors	ENST00000220763	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.002	T	T	97797153	G	T	97797153	3	4	48	1	0	0	0	0	1	0	0	0	11825	1116	39	2	30	2	PGCP	8	97797153	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	27295839	97797153	48566869	81	11625											
DOCK8	81704	genome.wustl.edu	37	chr9	428369	428369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccattcccccaggcgagctCggctctggactgtaaagaca	9	8	10	14	2	1	1	0	0	1	1	4	3	3	2	3	3	1	3	3	3	2	2	rs370123223		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr9:428369C>T	ENST00000453981.1	+	35	4458	c.4346C>T	c.(4345-4347)tCg>tTg	p.S1449L	DOCK8_ENST00000432829.2_Missense_Mutation_p.S1381L|DOCK8_ENST00000382329.1_Missense_Mutation_p.S916L|DOCK8_ENST00000469391.1_Missense_Mutation_p.S1349L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1449					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.S1381*(2)|p.S1449*(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGGCGAGCTCGGCTCTGGAC	0.502																																																	3	Substitution - Nonsense(3)	prostate(3)						C	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	125	102	110		4046,4142,4346	5.7	0.8	9		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	1349/2000,1381/2032,1449/2100	428369	1,13005	2203	4300	6503	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4346C>T	9.37:g.428369C>T	ENSP00000408464:p.Ser1449Leu		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.S1449L	ENST00000453981.1	37	c.4346	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	C	8.780	0.927985	0.18131	0.0	1.16E-4	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.65	5.65	0.86999	Armadillo-type fold (1);	0.381500	0.30556	N	0.009377	T	0.29321	0.0730	N	0.13198	0.31	0.38749	D	0.954069	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.09377	0.002;0.004;0.004	T	0.15263	-1.0443	10	0.33141	T	0.24	.	9.8974	0.41327	0.0:0.8436:0.0:0.1564	.	1349;916;1449	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	L	1449;1417;1381;1349;916	ENSP00000408464:S1449L;ENSP00000394888:S1381L;ENSP00000419438:S1349L;ENSP00000371766:S916L	ENSP00000287364:S1417L	S	+	2	0	DOCK8	418369	0.991000	0.36638	0.756000	0.31282	0.339000	0.28857	2.888000	0.48594	2.648000	0.89879	0.650000	0.86243	TCG	DOCK8	-	superfamily_ARM-type_fold	ENSG00000107099		0.502	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0	84	0	C	XM_036307		428369	1	tier1	-	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	30.23	59	26	SNP	0.977	T	T	428369	C	T	428369	3	4	48	1	0	0	0	0	1	0	0	0	4707	893	31	1	4484	1	DOCK8	9	428369	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		428369	140785062	82	11626											
FAM166B	730112	genome.wustl.edu	37	chr9	35562675	35562677	+	In_Frame_Del	DEL	TCA	TCA	-																															agaacttccgagggtccctgTcatccatggagtagggagaa																										TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr9:35562675_35562677delTCA	ENST00000399742.2	-	4	583_585	c.513_515delTGA	c.(511-516)gatgac>gac	p.171_172DD>D	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	171										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AGGGTCCCTGTCATCCATGGAGT	0.586																																																	0																																										SO:0001651	inframe_deletion	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.513_515delTGA	9.37:g.35562675_35562677delTCA	ENSP00000382646:p.Asp172del		A1L3B2|B7ZBJ0	In_Frame_Del	DEL	pfam_UPF0573/UPF0605	p.D172in_frame_del	ENST00000399742.2	37	c.515_513	CCDS56572.1	9																																																																																			FAM166B	-	NULL	ENSG00000215187		0.586	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1		0	30	0	TCA	NM_001099951		35562677	-1	tier1		no_errors	ENST00000447837	ensembl	human	known	74_37	in_frame_del	6.06	31	2	DEL	0.999:1.000:1.000	-	-	35562677	TCA	-	35562675	7	5	48	1	0	1	0	1	0	0	0	0	5501	1667	58	0	143	0	FAM166B	9	35562675	In_Frame_Del	DEL	TCA	TCGA-L5-A43C-01A-11D-A247-09	35134306	35562675	105650756	83	11627											
TLN1	7094	genome.wustl.edu	37	chr9	35725661	35725661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcttcaccacattccCaatgctgatcttcagtgaaa	11	12	5	13	1	4	2	2	2	2	0	6	2	5	2	2	0	1	1	2	0	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr9:35725661C>T	ENST00000314888.9	-	2	384	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	TLN1_ENST00000540444.1_Missense_Mutation_p.G11R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	11					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCACATTCCCAATGCTGATC	0.542																																																	0													233	205	215					9																	35725661		2203	4300	6503	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.31G>A	9.37:g.35725661C>T	ENSP00000316029:p.Gly11Arg		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G11R	ENST00000314888.9	37	c.31	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348410	0.24426	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.67865	-0.28;-0.29	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	L	0.60455	1.87	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.56208	-0.8017	10	0.14252	T	0.57	-18.664	15.0167	0.71591	0.0:0.8581:0.1419:0.0	.	11;11	Q5TCU5;Q9Y490	.;TLN1_HUMAN	R	11	ENSP00000316029:G11R;ENSP00000442981:G11R	ENSP00000316029:G11R	G	-	1	0	TLN1	35715661	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	1.550000	0.36223	2.606000	0.88127	0.655000	0.94253	GGG	TLN1	-	NULL	ENSG00000137076		0.542	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2		0	20	0	C	NM_006289		35725661	-1			no_errors	ENST00000314888	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	35725661	C	T	35725661	3	4	48	1	0	0	0	0	1	0	0	0	15994	594	21	3	7818	3	TLN1	9	35725661	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	162986	35725661	105487770	84	11628											
CKS2	1164	genome.wustl.edu	37	chr9	91930118	91930118	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagagaactttccaaacaAgtacctaaaactcatctgat	16	9	4	12	0	2	2	1	1	1	1	3	3	3	2	3	0	4	1	3	0	6	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr9:91930118A>G	ENST00000314355.6	+	2	188	c.93A>G	c.(91-93)caA>caG	p.Q31Q	MIR3153_ENST00000580744.1_RNA	NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	31					cell proliferation (GO:0008283)|meiosis I (GO:0007127)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			kidney(1)|large_intestine(1)	2						TTTCCAAACAAGTACCTAAAA	0.438																																																	0													143	135	137					9																	91930118		2203	4300	6503	SO:0001819	synonymous_variant	0			X54942	CCDS6682.1	9q22	2008-02-05	2002-10-07		ENSG00000123975	ENSG00000123975			2000	protein-coding gene	gene with protein product		116901	"CDC28 protein kinase 2"			2227411, 8697818	Standard	NM_001827		Approved		uc004aqh.3	P33552	OTTHUMG00000020180	ENST00000314355.6:c.93A>G	9.37:g.91930118A>G			Q6FGI9|Q6LET5	Silent	SNP	pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub	p.Q31	ENST00000314355.6	37	c.93	CCDS6682.1	9																																																																																			CKS2	-	pfam_Cyclin-dep_kinase_reg-sub,superfamily_Cyclin-dep_kinase_reg-sub,prints_Cyclin-dep_kinase_reg-sub	ENSG00000123975		0.438	CKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKS2	HGNC	protein_coding	OTTHUMT00000052988.1	-	0	43	0	A	NM_001827		91930118	1	tier1	-	no_errors	ENST00000314355	ensembl	human	known	74_37	silent	11.94	59	8	SNP	1.000	G	G	91930118	A	G	91930118	2	3	48	1	0	0	0	0	0	0	0	1	3460	69	3	4		4	CKS2	9	91930118	Silent	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	56204457	91930118	49283313	85	11629											
ANP32B	10541	genome.wustl.edu	37	chr9	100745866	100745866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggatccacctggAgctgaggaaccggaccccgg	11	3	16	11	2	0	2	0	1	0	1	1	8	1	7	5	6	2	1	5	6	2	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr9:100745866A>G	ENST00000339399.4	+	1	224	c.29A>G	c.(28-30)gAg>gGg	p.E10G	RP11-535C21.3_ENST00000411981.1_RNA	NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	10					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				ATCCACCTGGAGCTGAGGAAC	0.652																																																	0													35	37	36					9																	100745866		2196	4289	6485	SO:0001583	missense	0			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"ANP32 acidic nuclear phosphoproteins"	16677	protein-coding gene	gene with protein product	"acidic protein rich in leucines"					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.29A>G	9.37:g.100745866A>G	ENSP00000345848:p.Glu10Gly		B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.E10G	ENST00000339399.4	37	c.29	CCDS6732.1	9	.	.	.	.	.	.	.	.	.	.	A	13.59	2.283521	0.40394	.	.	ENSG00000136938	ENST00000339399	T	0.00473	7.18	3.57	3.57	0.40892	.	0.218845	0.39475	U	0.001350	T	0.00875	0.0029	M	0.93507	3.425	0.58432	D	0.999999	B	0.22480	0.07	B	0.27500	0.08	T	0.39941	-0.9589	10	0.87932	D	0	-7.2102	9.945	0.41602	1.0:0.0:0.0:0.0	.	10	Q92688	AN32B_HUMAN	G	10	ENSP00000345848:E10G	ENSP00000345848:E10G	E	+	2	0	ANP32B	99785687	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	4.305000	0.59110	1.402000	0.46780	0.260000	0.18958	GAG	ANP32B	-	NULL	ENSG00000136938		0.652	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4		0	43	0	A	NM_006401		100745866	1			no_errors	ENST00000339399	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	G	G	100745866	A	G	100745866	3	3	48	1	0	0	0	0	1	0	0	0	706	304	11	4	31	4	ANP32B	9	100745866	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	8815748	100745866	40467565	86	11630											
CACNA1B	774	genome.wustl.edu	37	chr9	141000233	141000233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggccctcatccggaCggcactggagatcaagctgg	8	7	14	12	2	2	2	2	1	0	1	3	4	3	3	2	5	1	3	2	5	1	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr9:141000233C>T	ENST00000371372.1	+	39	5547	c.5402C>T	c.(5401-5403)aCg>aTg	p.T1801M	CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1802M|CACNA1B_ENST00000371365.2_3'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1799M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1801M|CACNA1B_ENST00000277549.5_Missense_Mutation_p.T995M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1800M	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1801					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCATCCGGACGGCACTGGAG	0.637																																																	0													31	32	32					9																	141000233		2123	4212	6335	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5402C>T	9.37:g.141000233C>T	ENSP00000360423:p.Thr1801Met		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.T1802M	ENST00000371372.1	37	c.5405	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.248880	0.95305	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	M	0.92268	3.29	0.80722	D	1	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.51701	0.677;0.677;0.677	D	0.87587	0.2488	10	0.87932	D	0	.	18.3018	0.90165	0.0:1.0:0.0:0.0	.	1801;1800;1799	Q00975;B1AQK7;B1AQK6	CAC1B_HUMAN;.;.	M	1801;1801;995;1799;1800;1802	ENSP00000360423:T1801M;ENSP00000277551:T1801M;ENSP00000277549:T995M;ENSP00000360414:T1799M;ENSP00000360408:T1800M;ENSP00000360406:T1802M	ENSP00000277549:T995M	T	+	2	0	CACNA1B	140120054	1.000000	0.71417	0.934000	0.37439	0.961000	0.63080	7.609000	0.82925	2.317000	0.78254	0.561000	0.74099	ACG	CACNA1B	-	NULL	ENSG00000148408		0.637	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	-	0	30	0	C	NM_000718		141000233	1	tier1	-	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	T	T	141000233	C	T	141000233	3	4	48	1	0	0	0	0	1	0	0	0	2546	536	19	1	5552	1	CACNA1B	9	141000233	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	40254367	141000233	213198	87	11631											
BEND7	222389	genome.wustl.edu	37	chr10	13542011	13542011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaactcgctgatagatcCgcccagtgctgtcgttcagc	7	10	10	14	3	1	2	1	1	0	1	4	2	2	2	3	0	4	3	3	0	2	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:13542011C>T	ENST00000396900.2	-	3	214	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	BEND7_ENST00000378605.3_Missense_Mutation_p.R20Q|BEND7_ENST00000341083.3_Missense_Mutation_p.R20Q|BEND7_ENST00000396898.2_Missense_Mutation_p.R72Q			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	72						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGATAGATCCGCCCAGTGCT	0.473																																																	0													145	146	146					10																	13542011		2203	4300	6503	SO:0001583	missense	0			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"BEN domain containing"	23514	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 30"	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.215G>A	10.37:g.13542011C>T	ENSP00000380108:p.Arg72Gln		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	pfam_BEN_domain	p.R72Q	ENST00000396900.2	37	c.215		10	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932553	0.92458	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.58210	0.35;0.36;0.41;0.42	5.63	5.63	0.86233	.	0.041576	0.85682	D	0.000000	T	0.71962	0.3402	M	0.61703	1.905	0.48830	D	0.999719	D;D	0.76494	0.999;0.999	D;D	0.77557	0.978;0.99	T	0.73084	-0.4094	10	0.72032	D	0.01	-16.6215	19.7509	0.96268	0.0:1.0:0.0:0.0	.	72;20	E5RFC0;Q8N7W2-3	.;.	Q	72;20;72;20	ENSP00000380108:R72Q;ENSP00000345773:R20Q;ENSP00000380107:R72Q;ENSP00000367868:R20Q	ENSP00000345773:R20Q	R	-	2	0	BEND7	13582017	1.000000	0.71417	0.988000	0.46212	0.614000	0.37383	7.140000	0.77322	2.693000	0.91896	0.650000	0.86243	CGG	BEND7	-	NULL	ENSG00000165626		0.473	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		-	0	47	0	C	NM_152751		13542011	-1	tier1	-	no_errors	ENST00000396900	ensembl	human	known	74_37	missense	14.89	80	14	SNP	1.000	T	T	13542011	C	T	13542011	3	4	48	1	0	0	0	0	1	0	0	0	1404	652	23	1	1426	1	BEND7	10	13542011	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		13542011	121992736	88	11632											
PTCHD3	374308	genome.wustl.edu	37	chr10	27687303	27687303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgggaagaaatgatttcatTtgatgaagaaatattaatat	17	13	8	3	1	1	5	1	3	0	2	1	6	1	6	1	1	0	0	1	1	7	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:27687303T>C	ENST00000438700.3	-	4	2341	c.2224A>G	c.(2224-2226)Aat>Gat	p.N742D		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	742					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATGATTTCATTTGATGAAGAA	0.318																																																	0													30	32	32					10																	27687303		2201	4297	6498	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.2224A>G	10.37:g.27687303T>C	ENSP00000417658:p.Asn742Asp		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.N742D	ENST00000438700.3	37	c.2224	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	T	6.664	0.491095	0.12702	.	.	ENSG00000182077	ENST00000438700	D	0.87809	-2.3	4.55	-0.668	0.11392	.	1.524650	0.03251	N	0.181885	T	0.80691	0.4671	L	0.29908	0.895	0.09310	N	1	B	0.22746	0.074	B	0.30316	0.114	T	0.63310	-0.6666	10	0.12766	T	0.61	-5.8811	9.1921	0.37207	0.0:0.0829:0.414:0.5031	.	742	Q3KNS1	PTHD3_HUMAN	D	742	ENSP00000417658:N742D	ENSP00000417658:N742D	N	-	1	0	PTCHD3	27727309	0.000000	0.05858	0.838000	0.33150	0.811000	0.45836	0.358000	0.20216	0.040000	0.15660	-0.533000	0.04299	AAT	PTCHD3	-	NULL	ENSG00000182077		0.318	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3		0	24	0	T	XM_370541		27687303	-1			no_errors	ENST00000438700	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	C	C	27687303	T	C	27687303	3	2	48	1	0	0	0	0	1	0	0	0	12776	1841	64	4	83	4	PTCHD3	10	27687303	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	14145292	27687303	107847444	89	11633											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702951	27702951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgtccagcatcgacggccGggggggtgcatcgtccccct	5	7	14	15	5	0	0	0	0	0	0	5	1	2	0	4	4	2	2	4	4	0	0	rs570928509	byFrequency	TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:27702951G>C	ENST00000438700.3	-	1	346	c.229C>G	c.(229-231)Cgg>Ggg	p.R77G		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	77					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCGACGGCCGGGGGGGTGCA	0.716																																																	0													23	30	28					10																	27702951		2191	4279	6470	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.229C>G	10.37:g.27702951G>C	ENSP00000417658:p.Arg77Gly		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R77G	ENST00000438700.3	37	c.229	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	1.788	-0.480149	0.04383	.	.	ENSG00000182077	ENST00000438700	D	0.88586	-2.4	2.27	-4.54	0.03452	.	.	.	.	.	T	0.75339	0.3836	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.59757	-0.7394	9	0.54805	T	0.06	.	1.1961	0.01875	0.1401:0.1712:0.345:0.3436	.	77	Q3KNS1	PTHD3_HUMAN	G	77	ENSP00000417658:R77G	ENSP00000417658:R77G	R	-	1	2	PTCHD3	27742957	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.204000	0.09425	-0.802000	0.04421	0.505000	0.49811	CGG	PTCHD3	-	NULL	ENSG00000182077		0.716	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3		0	15	0	G	XM_370541		27702951	-1			no_errors	ENST00000438700	ensembl	human	known	74_37	missense	7.84	31	4	SNP	0.000	C	C	27702951	G	C	27702951	3	2	48	1	0	0	0	0	1	0	0	0	12776	1115	39	5	2090	5	PTCHD3	10	27702951	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	15648	27702951	107831796	90	11634											
LRIT1	26103	genome.wustl.edu	37	chr10	85991794	85991794	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgacactgtgccgggaCagctcctccaagccgtcctc	6	8	10	17	3	0	1	0	1	0	0	5	2	3	2	5	1	3	2	5	1	1	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:85991794C>A	ENST00000372105.3	-	4	1782	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	587						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TGTGCCGGGACAGCTCCTCCA	0.567																																																	0													89	72	78					10																	85991794		2203	4300	6503	SO:0001819	synonymous_variant	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1761G>T	10.37:g.85991794C>A			Q0QD41|Q9Y4N7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L587	ENST00000372105.3	37	c.1761	CCDS7373.1	10																																																																																			LRIT1	-	NULL	ENSG00000148602		0.567	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0	35	0	C	NM_015613		85991794	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.196	A	A	85991794	C	A	85991794	2	1	48	1	0	0	0	0	0	0	0	1	8982	465	17	3		3	LRIT1	10	85991794	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	58288843	85991794	49542953	91	11635											
PLCE1	51196	genome.wustl.edu	37	chr10	96033382	96033382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatttctcagatgatccaAtgcttccttcacctgaccaa	10	13	5	13	0	2	4	2	3	1	1	5	4	4	4	4	0	1	1	4	0	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:96033382A>G	ENST00000371380.3	+	18	4805	c.4570A>G	c.(4570-4572)Atg>Gtg	p.M1524V	PLCE1_ENST00000371375.1_Missense_Mutation_p.M1216V|PLCE1_ENST00000260766.3_Missense_Mutation_p.M1524V|PLCE1_ENST00000371385.3_Missense_Mutation_p.M1216V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1524	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGATGATCCAATGCTTCCTTC	0.368																																																	0													87	83	84					10																	96033382		1834	4093	5927	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4570A>G	10.37:g.96033382A>G	ENSP00000360431:p.Met1524Val		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.M1524V	ENST00000371380.3	37	c.4570	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129153	0.56721	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	6.17	6.17	0.99709	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.160581	0.64402	D	0.000020	T	0.46464	0.1394	N	0.03115	-0.41	0.32549	N	0.532643	P;P;B	0.45348	0.856;0.519;0.078	P;B;B	0.46718	0.525;0.084;0.18	T	0.55648	-0.8108	10	0.20519	T	0.43	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	1508;1216;1524	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	V	1524;1524;1216;1216	ENSP00000260766:M1524V;ENSP00000360431:M1524V;ENSP00000360438:M1216V;ENSP00000360426:M1216V	ENSP00000260766:M1524V	M	+	1	0	PLCE1	96023372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.387000	0.66243	2.371000	0.80710	0.533000	0.62120	ATG	PLCE1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000138193		0.368	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	32	0	A	NM_016341		96033382	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	G	G	96033382	A	G	96033382	3	3	48	1	0	0	0	0	1	0	0	0	12073	101	4	4	4926	4	PLCE1	10	96033382	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	10041588	96033382	39501365	92	11636											
PDCD11	22984	genome.wustl.edu	37	chr10	105178266	105178266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgccccacaacatcCgtgctttcctccccacatct	6	11	4	20	1	1	0	0	0	1	0	5	0	5	0	7	0	3	1	7	0	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:105178266C>T	ENST00000369797.3	+	15	2075	c.1981C>T	c.(1981-1983)Cgt>Tgt	p.R661C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	661	S1 motif 7. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCACAACATCCGTGCTTTCCT	0.522																																																	0													195	148	164					10																	105178266		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1981C>T	10.37:g.105178266C>T	ENSP00000358812:p.Arg661Cys		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.R661C	ENST00000369797.3	37	c.1981	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037773	0.35989	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.12361	2.69	5.8	3.87	0.44632	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.528828	0.22864	N	0.054717	T	0.08223	0.0205	N	0.14661	0.345	0.09310	N	1	P	0.45396	0.857	B	0.42653	0.394	T	0.15925	-1.0420	10	0.62326	D	0.03	-1.9144	6.2675	0.20936	0.1922:0.5534:0.186:0.0684	.	661	Q14690	RRP5_HUMAN	C	661	ENSP00000358812:R661C	ENSP00000358812:R661C	R	+	1	0	PDCD11	105168256	0.000000	0.05858	0.839000	0.33178	0.041000	0.13682	0.218000	0.17622	2.747000	0.94245	0.462000	0.41574	CGT	PDCD11	-	superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.522	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0	73	0	C			105178266	1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	19.32	71	17	SNP	0.004	T	T	105178266	C	T	105178266	3	4	48	1	0	0	0	0	1	0	0	0	11656	652	23	1	2035	1	PDCD11	10	105178266	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	9144884	105178266	30356481	93	11637											
ADRA2A	150	genome.wustl.edu	37	chr10	112838931	112838931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacgttcgtgctggccGtggtcatcggagtgttcgtg	3	13	15	10	5	2	0	2	0	0	0	5	1	2	1	1	3	1	4	1	3	0	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:112838931G>T	ENST00000280155.2	+	1	2142	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	378					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGTGCTGGCCGTGGTCATCGG	0.677																																					Esophageal Squamous(173;605 2658 7278 49362)												0													130	105	114					10																	112838931		2203	4300	6503	SO:0001583	missense	0			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.1177G>T	10.37:g.112838931G>T	ENSP00000280155:p.Val393Leu		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt	p.V393L	ENST00000280155.2	37	c.1177	CCDS7569.2	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664089	0.88251	.	.	ENSG00000150594	ENST00000280155	T	0.39406	1.08	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000001	T	0.61776	0.2374	M	0.68728	2.09	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	T	0.67647	-0.5617	10	0.62326	D	0.03	.	15.2452	0.73502	0.0:0.0:1.0:0.0	.	378	P08913	ADA2A_HUMAN	L	393	ENSP00000280155:V393L	ENSP00000280155:V393L	V	+	1	0	ADRA2A	112828921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.135000	0.94478	1.839000	0.53478	0.462000	0.41574	GTG	ADRA2A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000150594		0.677	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2		0	33	0	G	NM_000681		112838931	1			no_errors	ENST00000280155	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	112838931	G	T	112838931	3	4	48	1	0	0	0	0	1	0	0	0	337	1145	40	2	1179	2	ADRA2A	10	112838931	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	7660665	112838931	22695816	94	11638											
VTI1A	143187	genome.wustl.edu	37	chr10	114207157	114207157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgacttcgaaggttacgAgcaggacttcgcggtgctca	8	9	13	11	5	1	0	1	0	0	0	4	4	2	1	1	3	3	3	1	3	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:114207157A>G	ENST00000393077.2	+	1	142	c.26A>G	c.(25-27)gAg>gGg	p.E9G	ZDHHC6_ENST00000369404.3_5'Flank|ZDHHC6_ENST00000369405.3_5'Flank|VTI1A_ENST00000483122.1_3'UTR|VTI1A_ENST00000432306.1_Missense_Mutation_p.E9G	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	9					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GAAGGTTACGAGCAGGACTTC	0.657			T	TCF7L2	colorectal																																			Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													53	43	46					10																	114207157		2203	4300	6503	SO:0001583	missense	0			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.26A>G	10.37:g.114207157A>G	ENSP00000376792:p.Glu9Gly		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.E9G	ENST00000393077.2	37	c.26	CCDS7575.2	10	.	.	.	.	.	.	.	.	.	.	A	32	5.147355	0.94603	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	4.73	4.73	0.59995	t-SNARE (1);	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.85710	2.77	0.58432	D	0.99999	D;D	0.89917	0.998;1.0	D;D	0.85130	0.935;0.997	D	0.83643	0.0151	9	0.87932	D	0	-31.4134	12.9425	0.58352	1.0:0.0:0.0:0.0	.	9;9	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	G	9	.	ENSP00000376792:E9G	E	+	2	0	VTI1A	114197147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.700000	0.84556	1.972000	0.57404	0.533000	0.62120	GAG	VTI1A	-	superfamily_t-SNARE	ENSG00000151532		0.657	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2	-	0	41	0	A			114207157	1	tier1	-	no_errors	ENST00000393077	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	G	G	114207157	A	G	114207157	3	3	48	1	0	0	0	0	1	0	0	0	17284	304	11	4	28	4	VTI1A	10	114207157	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	1368226	114207157	21327590	95	11639											
ADAM12	8038	genome.wustl.edu	37	chr10	127782586	127782586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatgcagcctcctttCtcaaccgccatttgacagct	8	13	6	14	1	2	2	2	2	1	0	4	2	3	2	4	0	4	2	4	0	1	3	rs534081356		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:127782586C>A	ENST00000368679.4	-	11	1431	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	ADAM12_ENST00000368676.4_Missense_Mutation_p.E374D	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	374	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AGCCTCCTTTCTCAACCGCCA	0.542																																																	0													190	161	171					10																	127782586		2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1122G>T	10.37:g.127782586C>A	ENSP00000357668:p.Glu374Asp		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E374D	ENST00000368679.4	37	c.1122	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	3.285	-0.146235	0.06627	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.64618	-0.11;-0.11	4.89	-5.32	0.02722	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.125099	0.51477	N	0.000087	T	0.35098	0.0920	L	0.27975	0.815	0.30511	N	0.769393	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.002;0.002;0.004;0.001	T	0.04242	-1.0966	10	0.27785	T	0.31	.	3.5634	0.07890	0.2979:0.2879:0.3329:0.0813	.	371;371;374;371;374	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	D	374	ENSP00000357668:E374D;ENSP00000357665:E374D	ENSP00000357665:E374D	E	-	3	2	ADAM12	127772576	0.000000	0.05858	0.099000	0.21106	0.084000	0.17831	-2.300000	0.01138	-0.935000	0.03728	-0.519000	0.04390	GAG	ADAM12	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000148848		0.542	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	-	0	81	0	C			127782586	-1	tier1	-	no_errors	ENST00000368679	ensembl	human	known	74_37	missense	13.98	80	13	SNP	0.722	A	A	127782586	C	A	127782586	3	1	48	1	0	0	0	0	1	0	0	0	236	912	32	3	1767	3	ADAM12	10	127782586	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	13575429	127782586	7752161	96	11640											
SYCE1	93426	genome.wustl.edu	37	chr10	135369520	135369520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccttgctgctgtccaggGcacaaatctcctttgccagc	6	11	9	15	0	1	0	0	0	1	0	4	0	3	0	4	1	4	4	4	1	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr10:135369520G>A	ENST00000343131.5	-	9	664	c.560C>T	c.(559-561)gCc>gTc	p.A187V	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.A151V|SYCE1_ENST00000368517.3_Missense_Mutation_p.A151V	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	187					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTGTCCAGGGCACAAATCTC	0.582																																																	0													117	100	106					10																	135369520		2203	4300	6503	SO:0001583	missense	0			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.560C>T	10.37:g.135369520G>A	ENSP00000341282:p.Ala187Val		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	NULL	p.A187V	ENST00000343131.5	37	c.560	CCDS44501.1	10	.	.	.	.	.	.	.	.	.	.	G	6.495	0.459587	0.12342	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.34072	1.38;3.12;3.12;3.12	4.38	3.47	0.39725	.	1.081010	0.07035	N	0.829173	T	0.25232	0.0613	N	0.25890	0.77	0.09310	N	1	B;B;B	0.23377	0.004;0.084;0.004	B;B;B	0.16289	0.004;0.015;0.006	T	0.17745	-1.0359	10	0.23302	T	0.38	-16.0628	7.5945	0.28039	0.1162:0.0:0.8838:0.0	.	59;187;151	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	V	187;151;151;187	ENSP00000303978:A187V;ENSP00000411779:A151V;ENSP00000357503:A151V;ENSP00000341282:A187V	ENSP00000303978:A187V	A	-	2	0	SYCE1	135219510	0.521000	0.26258	0.162000	0.22713	0.011000	0.07611	0.649000	0.24843	1.413000	0.46997	0.655000	0.94253	GCC	SYCE1	-	NULL	ENSG00000171772		0.582	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYCE1	HGNC	protein_coding			0	63	0	G	NM_201564		135369520	-1			no_errors	ENST00000343131	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.163	A	A	135369520	G	A	135369520	3	1	48	1	0	0	0	0	1	0	0	0	15475	1203	42	3	558	3	SYCE1	10	135369520	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	7586934	135369520	165227	97	11641											
OR51M1	390059	genome.wustl.edu	37	chr11	5411391	5411391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctttcagacatgcaccGctcctctctgtgctgtgcta	5	13	9	14	1	2	1	1	0	1	1	4	1	3	1	3	0	4	4	3	0	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:5411391G>A	ENST00000328611.3	+	1	785	c.763G>A	c.(763-765)Gct>Act	p.A255T	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	255					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACATGCACCGCTCCTCTCTG	0.567																																																	0													104	96	99					11																	5411391		2062	4202	6264	SO:0001583	missense	0			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.763G>A	11.37:g.5411391G>A	ENSP00000333196:p.Ala255Thr		Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A255T	ENST00000328611.3	37	c.763	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	G	6.143	0.394572	0.11638	.	.	ENSG00000184698	ENST00000328611	T	0.37235	1.21	5.24	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.293778	0.18430	U	0.141472	T	0.28764	0.0713	L	0.41236	1.265	0.09310	N	1	B	0.27286	0.174	B	0.29785	0.107	T	0.26430	-1.0103	10	0.87932	D	0	.	6.9868	0.24733	0.1373:0.0:0.3092:0.5535	.	244	Q9H341	O51M1_HUMAN	T	255	ENSP00000333196:A255T	ENSP00000333196:A255T	A	+	1	0	OR51M1	5367967	0.000000	0.05858	0.318000	0.25279	0.038000	0.13279	0.108000	0.15396	0.468000	0.27243	-1.070000	0.02257	GCT	OR51M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000184698		0.567	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	-	0	64	0	G	NM_001004756		5411391	1	tier1	-	no_errors	ENST00000328611	ensembl	human	known	74_37	missense	18.57	57	13	SNP	0.028	A	A	5411391	G	A	5411391	3	1	48	1	0	0	0	0	1	0	0	0	11142	1087	38	1	765	1	OR51M1	11	5411391	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09		5411391	129595125	98	11642											
DCDC1	341019	genome.wustl.edu	37	chr11	31327826	31327826	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagactgttctagatcCatttttgtaagctgttactt	10	16	8	7	0	1	2	0	0	1	2	2	2	2	2	1	1	2	5	1	1	4	7			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:31327826C>A	ENST00000452803.1	-	5	745	c.544G>T	c.(544-546)Gga>Tga	p.G182*	DCDC1_ENST00000597505.1_Nonsense_Mutation_p.G182*|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	182	Doublecortin. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTCTAGATCCATTTTTGTAA	0.368																																																	0													127	122	124					11																	31327826		2202	4299	6501	SO:0001587	stop_gained	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.544G>T	11.37:g.31327826C>A	ENSP00000389792:p.Gly182*		A6PVL6|B7WNX6|Q6ZU04	Nonsense_Mutation	SNP	pfscan_Doublecortin_dom	p.G182*	ENST00000452803.1	37	c.544	CCDS7872.1	11	.	.	.	.	.	.	.	.	.	.	C	38	7.192218	0.98125	.	.	ENSG00000188682	ENST00000452803	.	.	.	5.95	4.04	0.47022	.	0.114925	0.38663	N	0.001614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.6917	0.45875	0.0:0.7991:0.131:0.0698	.	.	.	.	X	182	.	ENSP00000343496:G182X	G	-	1	0	DCDC1	31284402	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.585000	0.36600	0.792000	0.33850	0.650000	0.86243	GGA	DCDC1	-	pfscan_Doublecortin_dom	ENSG00000170959		0.368	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1	-	0	24	0	C	NM_181807		31327826	-1	tier1	-	no_errors	ENST00000452803	ensembl	human	known	74_37	nonsense	23.81	32	10	SNP	1.000	A	A	31327826	C	A	31327826	4	1	48	1	0	0	0	0	0	1	0	0	4293	603	21	3	540	3	DCDC1	11	31327826	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	25916435	31327826	103678690	99	11643											
NUP160	23279	genome.wustl.edu	37	chr11	47869783	47869783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtaccaatgctgcagaCtgtgaattcccgaaagtgcc	10	10	9	12	2	0	2	0	1	0	1	2	3	2	2	4	0	4	3	4	0	4	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:47869783C>T	ENST00000378460.2	-	1	236	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	NUP160_ENST00000532747.1_Missense_Mutation_p.V30I|NUP160_ENST00000526870.1_Missense_Mutation_p.V64I|NUP160_ENST00000530326.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	64					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ATGCTGCAGACTGTGAATTCC	0.642																																																	0													76	78	77					11																	47869783		2201	4298	6499	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.190G>A	11.37:g.47869783C>T	ENSP00000367721:p.Val64Ile		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.V64I	ENST00000378460.2	37	c.190	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512077	0.64522	.	.	ENSG00000030066	ENST00000378460;ENST00000532747;ENST00000526870	T;T;T	0.50548	0.74;0.74;0.74	5.01	3.09	0.35607	.	0.212897	0.29799	N	0.011166	T	0.21145	0.0509	N	0.04508	-0.205	0.09310	N	1	B;B	0.21147	0.052;0.001	B;B	0.21151	0.033;0.003	T	0.19386	-1.0307	10	0.09338	T	0.73	.	9.6243	0.39741	0.0:0.8196:0.0:0.1804	.	64;64	Q12769-2;Q12769	.;NU160_HUMAN	I	64;30;64	ENSP00000367721:V64I;ENSP00000432437:V30I;ENSP00000431495:V64I	ENSP00000367721:V64I	V	-	1	0	NUP160	47826359	0.055000	0.20627	0.301000	0.25044	0.748000	0.42578	0.650000	0.24858	1.235000	0.43724	0.491000	0.48974	GTC	NUP160	-	pfam_Nucleoporin_Nup160	ENSG00000030066		0.642	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	-	0	46	0	C	NM_015231		47869783	-1	tier1	-	no_errors	ENST00000378460	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.154	T	T	47869783	C	T	47869783	3	4	48	1	0	0	0	0	1	0	0	0	10796	565	20	3	4264	3	NUP160	11	47869783	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	16541957	47869783	87136733	100	11644											
OR4A16	81327	genome.wustl.edu	37	chr11	55110724	55110724	+	Silent	SNP	T	T	A																															tttgtcctcctgggcctcacTcaagatcctgatgtgaaaaa																										TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:55110724T>A	ENST00000314721.2	+	1	98	c.48T>A	c.(46-48)acT>acA	p.T16T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGGCCTCACTCAAGATCCTG	0.398																																																	0													61	56	58					11																	55110724		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.48T>A	11.37:g.55110724T>A			Q6IFL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T16	ENST00000314721.2	37	c.48	CCDS31499.1	11																																																																																			OR4A16	-	NULL	ENSG00000181961		0.398	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1		0	29	0	T	NM_001005274		55110724	1			no_errors	ENST00000314721	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.011	A	A	55110724	T	A	55110724	2	1	48	1	0	0	0	0	0	0	0	1	11080	1538	54	5		5	OR4A16	11	55110724	Silent	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	7240941	55110724	79895792	101	11645	42	2									
OR4A16	81327	genome.wustl.edu	37	chr11	55110731	55110731	+	Missense_Mutation	SNP	C	C	A																															tcctgggcctcactcaagatCctgatgtgaaaaaaacatta																										TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:55110731C>A	ENST00000314721.2	+	1	105	c.55C>A	c.(55-57)Cct>Act	p.P19T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACTCAAGATCCTGATGTGAA	0.408																																																	0													67	61	63					11																	55110731		2201	4296	6497	SO:0001583	missense	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.55C>A	11.37:g.55110731C>A	ENSP00000325128:p.Pro19Thr		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P19T	ENST00000314721.2	37	c.55	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	C	4.172	0.030456	0.08101	.	.	ENSG00000181961	ENST00000314721	T	0.00428	7.44	2.41	2.41	0.29592	.	.	.	.	.	T	0.00496	0.0016	M	0.78456	2.415	0.09310	N	1	B	0.27416	0.178	B	0.34093	0.175	T	0.37430	-0.9706	9	0.72032	D	0.01	.	5.122	0.14865	0.0:0.8262:0.0:0.1738	.	19	Q8NH70	O4A16_HUMAN	T	19	ENSP00000325128:P19T	ENSP00000325128:P19T	P	+	1	0	OR4A16	54867307	0.000000	0.05858	0.779000	0.31741	0.009000	0.06853	0.125000	0.15749	1.353000	0.45828	0.185000	0.17295	CCT	OR4A16	-	NULL	ENSG00000181961		0.408	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	-	0	31	0	C	NM_001005274		55110731	1	tier1	-	no_errors	ENST00000314721	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.001	A	A	55110731	C	A	55110731	3	1	48	1	0	0	0	0	1	0	0	0	11080	855	30	3	57	3	OR4A16	11	55110731	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	7	55110731	79895785	102	11646	42	2									
MS4A7	58475	genome.wustl.edu	37	chr11	60152619	60152619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggccatcttggtttttgCtccctacccctcccacttca	4	13	8	16	0	2	0	1	0	1	0	4	0	4	0	5	3	2	2	5	3	1	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:60152619C>A	ENST00000300184.3	+	3	402	c.206C>A	c.(205-207)gCt>gAt	p.A69D	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000530234.2_Missense_Mutation_p.A69D	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	69						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTGGTTTTTGCTCCCTACCCC	0.468																																																	0													205	203	204					11																	60152619		2203	4300	6503	SO:0001583	missense	0			AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.206C>A	11.37:g.60152619C>A	ENSP00000300184:p.Ala69Asp		A6NP53|Q6IAG8	Missense_Mutation	SNP	pfam_CD20-like	p.A69D	ENST00000300184.3	37	c.206	CCDS7985.1	11	.	.	.	.	.	.	.	.	.	.	C	11.14	1.552202	0.27739	.	.	ENSG00000166927	ENST00000300184;ENST00000530234	T;T	0.02280	4.36;4.36	3.91	2.0	0.26442	.	1.744500	0.03551	N	0.225419	T	0.07234	0.0183	M	0.70275	2.135	0.09310	N	0.999999	P	0.49307	0.922	P	0.51742	0.678	T	0.26538	-1.0100	10	0.35671	T	0.21	-0.0298	5.4214	0.16402	0.0:0.6829:0.2055:0.1116	.	69	Q9GZW8	MS4A7_HUMAN	D	69	ENSP00000300184:A69D;ENSP00000433184:A69D	ENSP00000300184:A69D	A	+	2	0	MS4A7	59909195	0.067000	0.21026	0.014000	0.15608	0.093000	0.18481	0.980000	0.29513	0.604000	0.29930	0.563000	0.77884	GCT	MS4A7	-	pfam_CD20-like	ENSG00000166927		0.468	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A7	HGNC	protein_coding	OTTHUMT00000394299.1		0	62	0	C			60152619	1			no_errors	ENST00000300184	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.018	A	A	60152619	C	A	60152619	3	1	48	1	0	0	0	0	1	0	0	0	9904	797	28	3	212	3	MS4A7	11	60152619	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	5041888	60152619	74853897	103	11647											
RTN3	10313	genome.wustl.edu	37	chr11	63487933	63487933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgattcctccccagaggaCctgatagcagcctttacaga	11	9	9	12	0	0	4	0	2	0	2	2	6	2	5	5	1	3	1	5	1	2	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:63487933C>A	ENST00000377819.5	+	3	2113	c.1959C>A	c.(1957-1959)gaC>gaA	p.D653E	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D634E|RTN3_ENST00000540798.1_Missense_Mutation_p.D541E|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	653					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCCCAGAGGACCTGATAGCAG	0.343																																																	0													47	49	48					11																	63487933		2201	4298	6499	SO:0001583	missense	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1959C>A	11.37:g.63487933C>A	ENSP00000367050:p.Asp653Glu		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.D653E	ENST00000377819.5	37	c.1959	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770772	0.49680	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.29917	1.55;1.56;1.59	5.77	3.83	0.44106	.	0.240712	0.29838	N	0.011075	T	0.33177	0.0854	N	0.17082	0.46	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.991;0.996	T	0.07558	-1.0766	10	0.30078	T	0.28	-8.4701	7.3066	0.26451	0.0:0.7359:0.168:0.0961	.	541;653;634	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	E	653;634;541	ENSP00000367050:D653E;ENSP00000344106:D634E;ENSP00000442733:D541E	ENSP00000344106:D634E	D	+	3	2	RTN3	63244509	0.998000	0.40836	0.986000	0.45419	0.379000	0.30106	1.216000	0.32443	0.825000	0.34637	0.655000	0.94253	GAC	RTN3	-	NULL	ENSG00000133318		0.343	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1		0	22	0	C	NM_006054		63487933	1			no_errors	ENST00000377819	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.997	A	A	63487933	C	A	63487933	3	1	48	1	0	0	0	0	1	0	0	0	13772	506	18	3	1969	3	RTN3	11	63487933	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	3335314	63487933	71518583	104	11648											
PCNXL3	399909	genome.wustl.edu	37	chr11	65402568	65402568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgttgtggcgcctggggttCgcatggccctcaagcttcac	4	10	14	13	3	2	0	2	0	0	0	3	0	2	0	2	4	1	4	2	4	1	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:65402568C>T	ENST00000355703.3	+	30	5469	c.4930C>T	c.(4930-4932)Cgc>Tgc	p.R1644C	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1644						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCTGGGGTTCGCATGGCCCT	0.647																																																	0													46	49	48					11																	65402568		2110	4226	6336	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4930C>T	11.37:g.65402568C>T	ENSP00000347931:p.Arg1644Cys		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.R1644C	ENST00000355703.3	37	c.4930	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052860	0.75960	.	.	ENSG00000197136	ENST00000355703	T	0.59364	0.27	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.80633	0.4660	M	0.92268	3.29	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85594	0.1248	10	0.72032	D	0.01	.	14.2725	0.66159	0.0:1.0:0.0:0.0	.	531;1644	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	C	1644	ENSP00000347931:R1644C	ENSP00000347931:R1644C	R	+	1	0	PCNXL3	65159144	0.996000	0.38824	1.000000	0.80357	0.936000	0.57629	3.373000	0.52394	2.234000	0.73211	0.563000	0.77884	CGC	PCNXL3	-	pfam_Pecanex	ENSG00000197136		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	47	0	C	NM_032223		65402568	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	21.74	54	15	SNP	1.000	T	T	65402568	C	T	65402568	3	4	48	1	0	0	0	0	1	0	0	0	11632	884	31	1	5048	1	PCNXL3	11	65402568	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	1914635	65402568	69603948	105	11649											
BBS1	582	genome.wustl.edu	37	chr11	66283014	66283014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacattgtcacaggacCgaatcgaccccttaaccctg	10	9	6	16	2	1	0	1	0	0	0	3	3	2	1	5	1	1	0	5	1	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:66283014C>T	ENST00000318312.7	+	5	487	c.436C>T	c.(436-438)Cga>Tga	p.R146*	BBS1_ENST00000537537.1_Intron|BBS1_ENST00000455748.2_Intron|BBS1_ENST00000393994.2_Nonsense_Mutation_p.R146*|CTD-3074O7.11_ENST00000419755.3_Nonsense_Mutation_p.R183*|BBS1_ENST00000529766.1_3'UTR	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	146					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTCACAGGACCGAATCGACCC	0.572									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0			GRCh37	CM031131	BBS1	M							109	97	101					11																	66283014		2200	4295	6495	SO:0001587	stop_gained	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.436C>T	11.37:g.66283014C>T	ENSP00000317469:p.Arg146*		Q32MM9|Q32MN0|Q96SN4	Nonsense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.R183*	ENST00000318312.7	37	c.547	CCDS8142.1	11	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350818	0.41599	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000525809;ENST00000393994;ENST00000524705	.	.	.	5.25	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	6.8756	0.24145	0.173:0.7378:0.0:0.0892	.	.	.	.	X	183;146;55;146;53	.	ENSP00000317469:R146X	R	+	1	2	BBS1;CTD-3074O7.11	66039590	1.000000	0.71417	0.790000	0.31976	0.012000	0.07955	3.771000	0.55318	1.220000	0.43490	-0.259000	0.10710	CGA	CTD-3074O7.11	-	NULL	ENSG00000256349		0.572	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2	-	0	16	0	C			66283014	1	tier1	-	no_errors	ENST00000419755	ensembl	human	known	74_37	nonsense	19.51	33	8	SNP	0.993	T	T	66283014	C	T	66283014	4	4	48	1	0	0	0	0	0	1	0	0	1336	644	23	1	454	1	BBS1	11	66283014	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	880446	66283014	68723502	106	11650											
USP28	57646	genome.wustl.edu	37	chr11	113698017	113698017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attttctctggctgcccaagGgactgattaaactcaaatct	11	13	7	10	0	3	1	1	1	2	0	4	2	3	2	1	2	2	1	1	2	4	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:113698017G>A	ENST00000003302.4	-	11	1193	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	USP28_ENST00000537706.1_Silent_p.S375S|USP28_ENST00000545540.1_Silent_p.S250S|USP28_ENST00000260188.5_Silent_p.S375S|USP28_ENST00000544967.1_Silent_p.S83S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	375	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S375S(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCTGCCCAAGGGACTGATTAA	0.378																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												1	Substitution - coding silent(1)	skin(1)											77	78	77					11																	113698017		2201	4296	6497	SO:0001819	synonymous_variant	0			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1125C>T	11.37:g.113698017G>A			B0YJC0|B0YJC1|Q9P213	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67	p.S375	ENST00000003302.4	37	c.1125	CCDS31680.1	11																																																																																			USP28	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000048028		0.378	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1		0	24	0	G			113698017	-1			no_errors	ENST00000003302	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.997	A	A	113698017	G	A	113698017	2	1	48	1	0	0	0	0	0	0	0	1	17107	1219	43	3		3	USP28	11	113698017	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	47415003	113698017	21308499	107	11651											
SIDT2	51092	genome.wustl.edu	37	chr11	117066610	117066610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcacttcctctcctccatCgccatgttcgggtccttcct	3	14	7	17	2	1	0	0	0	1	0	8	0	5	0	6	2	0	2	6	2	0	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr11:117066610C>T	ENST00000324225.4	+	25	2946	c.2415C>T	c.(2413-2415)atC>atT	p.I805I	SIDT2_ENST00000532062.1_Silent_p.I97I|SIDT2_ENST00000431081.2_Silent_p.I802I	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	805					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCTCCTCCATCGCCATGTTCG	0.617																																																	0													198	183	189					11																	117066610		2201	4296	6497	SO:0001819	synonymous_variant	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2415C>T	11.37:g.117066610C>T			Q8NBY7|Q9Y357	Silent	SNP	NULL	p.I826	ENST00000324225.4	37	c.2478	CCDS31682.1	11																																																																																			SIDT2	-	NULL	ENSG00000149577		0.617	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	-	0	60	0	C	NM_015996		117066610	1	tier1	-	no_errors	ENST00000278951	ensembl	human	known	74_37	silent	8.33	66	6	SNP	1.000	T	T	117066610	C	T	117066610	2	4	48	1	0	0	0	0	0	0	0	1	14348	874	31	1		1	SIDT2	11	117066610	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	3368593	117066610	17939906	108	11652											
SCNN1A	6337	genome.wustl.edu	37	chr12	6457259	6457259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgagcacccctgccccctCggcctggagaccagtatcgg	6	6	11	18	2	0	2	0	1	0	1	2	3	0	2	7	3	2	2	7	3	1	1	rs202038572		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:6457259C>T	ENST00000228916.2	-	13	1888	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	SCNN1A_ENST00000358945.3_Missense_Mutation_p.R619Q|SCNN1A_ENST00000540037.1_Missense_Mutation_p.R297Q|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R656Q|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R620Q	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	597					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTGCCCCCTCGGCCTGGAGA	0.617													C|||	1	0.000199681	0	0	5008	,	,		18193	0.001		0	False		,,,				2504	0																0													44	43	43					12																	6457259		2203	4300	6503	SO:0001583	missense	0			Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10599	protein-coding gene	gene with protein product		600228	"sodium channel, nonvoltage-gated 1 alpha", "sodium channel, non-voltage-gated 1 alpha"	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.1790G>A	12.37:g.6457259C>T	ENSP00000228916:p.Arg597Gln		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R619Q	ENST00000228916.2	37	c.1856	CCDS8543.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.03	2.713566	0.48517	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000540037;ENST00000228916;ENST00000543768	T;T;T;T;T	0.70749	-0.42;-0.51;-0.24;-0.4;-0.41	4.39	3.25	0.37280	.	0.347163	0.19982	N	0.101752	T	0.59609	0.2206	M	0.72118	2.19	0.24203	N	0.995504	B;B;P	0.44006	0.287;0.287;0.824	B;B;B	0.28139	0.024;0.014;0.086	T	0.61549	-0.7040	10	0.52906	T	0.07	-6.5239	8.1748	0.31275	0.0:0.8653:0.0:0.1347	.	620;597;656	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	Q	656;619;297;597;620	ENSP00000353292:R656Q;ENSP00000351825:R619Q;ENSP00000440876:R297Q;ENSP00000228916:R597Q;ENSP00000438739:R620Q	ENSP00000228916:R597Q	R	-	2	0	SCNN1A	6327520	0.882000	0.30256	1.000000	0.80357	0.984000	0.73092	1.263000	0.33004	2.008000	0.58898	0.561000	0.74099	CGA	SCNN1A	-	NULL	ENSG00000111319		0.617	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCNN1A	HGNC	protein_coding	OTTHUMT00000399055.1		0	28	0	C			6457259	-1			no_errors	ENST00000358945	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.659	T	T	6457259	C	T	6457259	3	4	48	1	0	0	0	0	1	0	0	0	13972	884	31	1	223	1	SCNN1A	12	6457259	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		6457259	127394636	109	11653											
DPPA3	359787	genome.wustl.edu	37	chr12	7869565	7869565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcattttttttcagaaGgaatcaagaccattcaaatg	14	15	5	7	0	5	2	5	0	0	2	5	3	5	3	1	1	0	0	1	1	4	6			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:7869565G>A	ENST00000345088.2	+	4	489	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	124					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.K124K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TTTTTCAGAAGGAATCAAGAC	0.378																																																	1	Substitution - coding silent(1)	lung(1)											78	84	82					12																	7869565		2203	4300	6503	SO:0001819	synonymous_variant	0			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.372G>A	12.37:g.7869565G>A			Q0P5U3|Q6JZS6	Silent	SNP	NULL	p.K124	ENST00000345088.2	37	c.372	CCDS8582.1	12																																																																																			DPPA3	-	NULL	ENSG00000187569		0.378	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA3	HGNC	protein_coding	OTTHUMT00000399718.1	-	0	31	0	G	NM_199286		7869565	1	tier1	-	no_errors	ENST00000345088	ensembl	human	known	74_37	silent	12.07	51	7	SNP	0.001	A	A	7869565	G	A	7869565	2	1	48	1	0	0	0	0	0	0	0	1	4749	991	35	3		3	DPPA3	12	7869565	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1412306	7869565	125982330	110	11654											
ACVRL1	94	genome.wustl.edu	37	chr12	52307360	52307360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccacccaacctccttcgGagcagccgggaacagatggc	10	4	11	16	2	0	1	0	0	0	1	2	3	1	3	5	3	5	1	5	3	2	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:52307360G>A	ENST00000388922.4	+	4	614	c.331G>A	c.(331-333)Gag>Aag	p.E111K	ACVRL1_ENST00000550683.1_Missense_Mutation_p.E125K|ACVRL1_ENST00000419526.2_Intron	NM_000020.2	NP_000011.2	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	111					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|artery development (GO:0060840)|blood circulation (GO:0008015)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|blood vessel maturation (GO:0001955)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|cellular response to transforming growth factor beta stimulus (GO:0071560)|endothelial tube morphogenesis (GO:0061154)|in utero embryonic development (GO:0001701)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of focal adhesion assembly (GO:0051895)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of blood pressure (GO:0008217)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of DNA replication (GO:0006275)|regulation of endothelial cell proliferation (GO:0001936)|regulation of transcription, DNA-templated (GO:0006355)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|venous blood vessel development (GO:0060841)|wound healing, spreading of epidermal cells (GO:0035313)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ACCTCCTTCGGAGCAGCCGGG	0.677																																																	0													17	17	17					12																	52307360		2200	4297	6497	SO:0001583	missense	0			L17075	CCDS31804.1	12q13.13	2014-09-17			ENSG00000139567	ENSG00000139567			175	protein-coding gene	gene with protein product		601284		ACVRLK1, ORW2		8397373, 8640225	Standard	NM_000020		Approved	HHT2, ALK1, HHT	uc001rzk.3	P37023	OTTHUMG00000169507	ENST00000388922.4:c.331G>A	12.37:g.52307360G>A	ENSP00000373574:p.Glu111Lys		A6NGA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.E125K	ENST00000388922.4	37	c.373	CCDS31804.1	12	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499324	0.26861	.	.	ENSG00000139567	ENST00000388922;ENST00000267008;ENST00000550683	D;D	0.85861	-2.01;-2.04	5.54	3.68	0.42216	.	0.574970	0.14566	N	0.311743	T	0.70245	0.3202	N	0.19112	0.55	0.80722	D	1	B	0.15141	0.012	B	0.08055	0.003	T	0.56147	-0.8027	10	0.08179	T	0.78	.	7.5497	0.27788	0.0891:0.1666:0.7443:0.0	.	111	P37023	ACVL1_HUMAN	K	111;111;125	ENSP00000373574:E111K;ENSP00000447884:E125K	ENSP00000267008:E111K	E	+	1	0	ACVRL1	50593627	0.999000	0.42202	0.014000	0.15608	0.183000	0.23260	4.774000	0.62339	0.663000	0.31027	0.591000	0.81541	GAG	ACVRL1	-	NULL	ENSG00000139567		0.677	ACVRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVRL1	HGNC	protein_coding	OTTHUMT00000404520.2		0	16	0	G			52307360	1			no_errors	ENST00000550683	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.738	A	A	52307360	G	A	52307360	3	1	48	1	0	0	0	0	1	0	0	0	225	1175	41	3	341	3	ACVRL1	12	52307360	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	44437795	52307360	81544535	111	11655											
ESPL1	9700	genome.wustl.edu	37	chr12	53685797	53685797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgccgtgggaaagcatGcccagcctccaagcactgcc	10	5	11	15	1	0	0	0	0	0	0	1	1	1	1	5	1	7	3	5	1	3	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:53685797G>A	ENST00000257934.4	+	27	5812	c.5721G>A	c.(5719-5721)atG>atA	p.M1907I	ESPL1_ENST00000552462.1_Missense_Mutation_p.M1907I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1907					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGGAAAGCATGCCCAGCCTCC	0.572																																					Colon(53;1069 1201 2587 5382)												0													77	74	75					12																	53685797		2203	4300	6503	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5721G>A	12.37:g.53685797G>A	ENSP00000257934:p.Met1907Ile			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.M1907I	ENST00000257934.4	37	c.5721	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	1.078	-0.667785	0.03428	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.09630	2.96;2.96	4.55	-0.809	0.10864	.	0.303319	0.39909	N	0.001229	T	0.02494	0.0076	N	0.03930	-0.32	0.22389	N	0.999141	B	0.02656	0.0	B	0.04013	0.001	T	0.39165	-0.9627	10	0.02654	T	1	.	1.8186	0.03105	0.2537:0.3545:0.2661:0.1257	.	1907	Q14674	ESPL1_HUMAN	I	1907;1582;1907	ENSP00000257934:M1907I;ENSP00000449831:M1907I	ENSP00000257934:M1907I	M	+	3	0	ESPL1	51972064	0.629000	0.27146	0.997000	0.53966	0.997000	0.91878	-0.250000	0.08830	0.018000	0.15052	0.650000	0.86243	ATG	ESPL1	-	pfam_Peptidase_C50	ENSG00000135476		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	30	0	G	NM_012291		53685797	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.952	A	A	53685797	G	A	53685797	3	1	48	1	0	0	0	0	1	0	0	0	5269	1319	46	3	5823	3	ESPL1	12	53685797	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1378437	53685797	80166098	112	11656											
RPS26	6231	genome.wustl.edu	37	chr12	56436329	56436329	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattaagaaattcgtcattCgaaacatagtggaggccgca	14	9	9	9	3	1	1	1	0	0	1	3	3	1	2	2	2	1	1	2	2	4	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:56436329C>T	ENST00000356464.5	+	2	438	c.124C>T	c.(124-126)Cga>Tga	p.R42*	RPS26_ENST00000552361.1_Nonsense_Mutation_p.R42*|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	42					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATTCGTCATTCGAAACATAGT	0.562																																																	0													34	37	36					12																	56436329		2181	4259	6440	SO:0001587	stop_gained	0			AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"S ribosomal proteins"	10414	protein-coding gene	gene with protein product	"40S ribosomal protein S26"	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.124C>T	12.37:g.56436329C>T	ENSP00000348849:p.Arg42*		P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Nonsense_Mutation	SNP	pfam_Ribosomal_S26e	p.R42*	ENST00000356464.5	37	c.124	CCDS31832.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.168041	0.97343	.	.	ENSG00000197728	ENST00000356464;ENST00000552361	.	.	.	4.43	2.54	0.30619	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.4263	6.272	0.20959	0.3255:0.5857:0.0:0.0888	.	.	.	.	X	42	.	ENSP00000348849:R42X	R	+	1	2	RPS26	54722596	1.000000	0.71417	0.928000	0.36995	0.822000	0.46500	1.396000	0.34531	0.567000	0.29293	-0.251000	0.11542	CGA	RPS26	-	pfam_Ribosomal_S26e	ENSG00000197728		0.562	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS26	HGNC	protein_coding	OTTHUMT00000407616.1		0	61	0	C	NM_001029		56436329	1			no_errors	ENST00000356464	ensembl	human	known	74_37	nonsense	10.10	89	10	SNP	1.000	T	T	56436329	C	T	56436329	4	4	48	1	0	0	0	0	0	1	0	0	13682	876	31	1	130	1	RPS26	12	56436329	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	2750532	56436329	77415566	113	11657											
NR2C1	7181	genome.wustl.edu	37	chr12	95434294	95434294	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaagtgcccagtgcattGataagaacagcagtctggag	13	8	12	8	1	1	2	0	1	1	1	2	4	1	3	1	1	4	2	1	1	3	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:95434294G>T	ENST00000333003.5	-	10	1541	c.1211C>A	c.(1210-1212)tCa>tAa	p.S404*	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Nonsense_Mutation_p.S404*|NR2C1_ENST00000393101.3_Nonsense_Mutation_p.S404*	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	404					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CCAGTGCATTGATAAGAACAG	0.423																																																	0													119	99	106					12																	95434294		2203	4300	6503	SO:0001587	stop_gained	0			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"Nuclear hormone receptors"	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1211C>A	12.37:g.95434294G>T	ENSP00000333275:p.Ser404*		A8K5K4|Q15625|Q15626	Nonsense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.S404*	ENST00000333003.5	37	c.1211	CCDS9051.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.673873	0.96764	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	.	.	.	6.06	6.06	0.98353	.	0.052397	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	.	.	.	X	404	.	ENSP00000328843:S404X	S	-	2	0	NR2C1	93958425	1.000000	0.71417	0.998000	0.56505	0.649000	0.38597	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	TCA	NR2C1	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000120798		0.423	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	HGNC	protein_coding	OTTHUMT00000407565.2		0	40	0	G	NM_003297		95434294	-1			no_errors	ENST00000333003	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	95434294	G	T	95434294	4	4	48	1	0	0	0	0	0	1	0	0	10661	1294	45	3	698	3	NR2C1	12	95434294	Nonsense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	38997965	95434294	38417601	114	11658											
KSR2	283455	genome.wustl.edu	37	chr12	118293271	118293271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggcaggagagggaggcgTtgaggcgggcacactcctcc	8	5	18	10	2	0	3	0	2	0	1	2	5	2	4	2	6	0	3	2	6	0	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:118293271T>C	ENST00000339824.5	-	3	1161	c.434A>G	c.(433-435)aAc>aGc	p.N145S	KSR2_ENST00000425217.1_Missense_Mutation_p.N116S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	145					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGGGAGGCGTTGAGGCGGGC	0.637																																																	0													82	96	91					12																	118293271		2081	4207	6288	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.434A>G	12.37:g.118293271T>C	ENSP00000339952:p.Asn145Ser		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.N145S	ENST00000339824.5	37	c.434		12	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588935	0.28357	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.78003	-1.13;-1.14	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	L	0.27053	0.805	0.34654	D	0.721913	B	0.19706	0.038	B	0.19946	0.027	T	0.65973	-0.6038	10	0.17369	T	0.5	.	13.2489	0.60039	0.0:0.0:0.0:1.0	.	145	Q6VAB6	KSR2_HUMAN	S	116;145	ENSP00000389715:N116S;ENSP00000339952:N145S	ENSP00000339952:N145S	N	-	2	0	KSR2	116777654	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	5.802000	0.69122	2.034000	0.60081	0.374000	0.22700	AAC	KSR2	-	NULL	ENSG00000171435		0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0	38	0	T	NM_173598		118293271	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	C	C	118293271	T	C	118293271	3	2	48	1	0	0	0	0	1	0	0	0	8610	1725	60	4	2490	4	KSR2	12	118293271	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	22858977	118293271	15558624	115	11659											
KDM2B	84678	genome.wustl.edu	37	chr12	121951164	121951164	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctctccaggacataccaGcacatctcatagtagaaggg	13	9	8	11	0	2	1	1	0	2	1	5	2	3	2	2	2	2	2	2	2	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:121951164G>T	ENST00000377071.4	-	10	1161	c.1089C>A	c.(1087-1089)tgC>tgA	p.C363*	KDM2B_ENST00000538046.2_Nonsense_Mutation_p.C273*|KDM2B_ENST00000377069.4_Nonsense_Mutation_p.C332*|KDM2B_ENST00000536437.1_Nonsense_Mutation_p.C246*	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	363					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGACATACCAGCACATCTCAT	0.547																																																	0													89	90	89					12																	121951164		2048	4190	6238	SO:0001587	stop_gained	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1089C>A	12.37:g.121951164G>T	ENSP00000366271:p.Cys363*		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Nonsense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.C363*	ENST00000377071.4	37	c.1089	CCDS41850.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.089338|4.089338	0.76756|0.76756	.|.	.|.	ENSG00000089094|ENSG00000089094	ENST00000541318|ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152;ENST00000542030;ENST00000538379;ENST00000545022	.|.	.|.	.|.	5.82|5.82	4.75|4.75	0.60458|0.60458	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	T|.	0.24890|.	0.0604|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25641|.	-1.0126|.	4|.	0.87932|0.02654	D|T	0|1	-28.1661|-28.1661	10.4618|10.4618	0.44583|0.44583	0.1979:0.0:0.8021:0.0|0.1979:0.0:0.8021:0.0	.|.	.|.	.|.	.|.	D|X	31|363;332;363;246;363;363;326;65;132;132	.|.	ENSP00000443052:A31D|ENSP00000261824:C363X	A|C	-|-	2|3	0|2	KDM2B|KDM2B	120435547|120435547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.321000|5.321000	0.65846|0.65846	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GCT|TGC	KDM2B	-	NULL	ENSG00000089094		0.547	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2		0	47	0	G	NM_032590		121951164	-1			no_errors	ENST00000377071	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T	T	121951164	G	T	121951164	4	4	48	1	0	0	0	0	0	1	0	0	8152	963	34	3	3029	3	KDM2B	12	121951164	Nonsense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	3657893	121951164	11900731	116	11660											
NOC4L	79050	genome.wustl.edu	37	chr12	132632280	132632280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacccgctaccacaccatgCaggcagccgtggatgccgtg	9	5	11	16	3	0	0	0	0	0	0	0	1	0	1	5	2	4	3	5	2	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr12:132632280C>A	ENST00000330579.1	+	5	597	c.556C>A	c.(556-558)Cag>Aag	p.Q186K	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	186					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCACACCATGCAGGCAGCCGT	0.667																																																	0													66	68	67					12																	132632280		2202	4298	6500	SO:0001583	missense	0				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.556C>A	12.37:g.132632280C>A	ENSP00000328854:p.Gln186Lys		Q8N2S5|Q96I14	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.Q186K	ENST00000330579.1	37	c.556	CCDS9277.1	12	.	.	.	.	.	.	.	.	.	.	C	0.602	-0.828460	0.02734	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T;T	0.33654	1.4;1.4	4.98	4.98	0.66077	Armadillo-like helical (1);	0.269284	0.39985	N	0.001208	T	0.28599	0.0708	L	0.53249	1.67	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.10382	-1.0632	10	0.02654	T	1	-23.7486	11.4624	0.50219	0.3067:0.6933:0.0:0.0	.	186	Q9BVI4	NOC4L_HUMAN	K	186;153	ENSP00000328854:Q186K;ENSP00000438255:Q153K	ENSP00000328854:Q186K	Q	+	1	0	NOC4L	131198233	1.000000	0.71417	0.829000	0.32907	0.092000	0.18411	1.574000	0.36482	2.291000	0.77112	0.655000	0.94253	CAG	NOC4L	-	superfamily_ARM-type_fold	ENSG00000184967		0.667	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1		0	47	0	C	NM_024078		132632280	1			no_errors	ENST00000330579	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.999	A	A	132632280	C	A	132632280	3	1	48	1	0	0	0	0	1	0	0	0	10554	711	25	3	574	3	NOC4L	12	132632280	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	10681116	132632280	1219615	117	11661											
COG6	57511	genome.wustl.edu	37	chr13	40261650	40261650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctagatataccttaGatgaatttggaacagccaga	13	14	7	7	0	2	4	0	1	2	3	2	5	2	5	2	1	3	0	2	1	6	7			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr13:40261650G>T	ENST00000455146.3	+	9	849	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	COG6_ENST00000416691.1_Missense_Mutation_p.D267Y	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	267					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATATACCTTAGATGAATTTGG	0.408																																																	0													76	80	79					13																	40261650		2203	4300	6503	SO:0001583	missense	0			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.799G>T	13.37:g.40261650G>T	ENSP00000397441:p.Asp267Tyr		Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	pfam_COG6	p.D267Y	ENST00000455146.3	37	c.799	CCDS9370.1	13	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166696	0.78339	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.60548	0.18;0.18	5.68	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.77877	0.4196	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81897	-0.0722	10	0.87932	D	0	-4.6379	13.8326	0.63391	0.0734:0.0:0.9266:0.0	.	288;267	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	Y	267;298;267	ENSP00000403733:D267Y;ENSP00000397441:D267Y	ENSP00000255468:D298Y	D	+	1	0	COG6	39159650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.323000	0.79105	1.403000	0.46800	0.591000	0.81541	GAT	COG6	-	pfam_COG6	ENSG00000133103		0.408	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	HGNC	protein_coding	OTTHUMT00000044622.3		0	26	0	G			40261650	1			no_errors	ENST00000455146	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	40261650	G	T	40261650	3	4	48	1	0	0	0	0	1	0	0	0	3669	942	33	3	833	3	COG6	13	40261650	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09		40261650	74908228	118	11662											
PCDH17	27253	genome.wustl.edu	37	chr13	58207464	58207464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgctccgctgggtacagtgGtcatcgatctgaacgccacc	8	8	11	14	4	2	1	1	1	1	0	4	2	3	1	3	2	2	3	3	2	2	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr13:58207464G>A	ENST00000377918.3	+	1	810	c.784G>A	c.(784-786)Gtc>Atc	p.V262I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	262	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGGTACAGTGGTCATCGATCT	0.582																																					Melanoma(72;952 1291 1619 12849 33676)												0													74	63	67					13																	58207464		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.784G>A	13.37:g.58207464G>A	ENSP00000367151:p.Val262Ile		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V262I	ENST00000377918.3	37	c.784	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	8.908	0.957969	0.18507	.	.	ENSG00000118946	ENST00000377918	T	0.63417	-0.04	4.73	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.129140	0.53938	D	0.000049	T	0.50463	0.1617	N	0.25031	0.7	0.38858	D	0.956416	B;B	0.20052	0.033;0.041	B;B	0.26864	0.044;0.074	T	0.46527	-0.9185	9	.	.	.	.	17.8954	0.88886	0.0:0.0:1.0:0.0	.	262;262	O14917-2;O14917	.;PCD17_HUMAN	I	262	ENSP00000367151:V262I	.	V	+	1	0	PCDH17	57105465	0.994000	0.37717	1.000000	0.80357	0.442000	0.32017	2.218000	0.42889	2.470000	0.83445	0.650000	0.86243	GTC	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000118946		0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	35	0	G	NM_001040429		58207464	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	21.57	39	11	SNP	0.975	A	A	58207464	G	A	58207464	3	1	48	1	0	0	0	0	1	0	0	0	11551	1261	44	3	786	3	PCDH17	13	58207464	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	17945814	58207464	56962414	119	11663											
MCF2L	23263	genome.wustl.edu	37	chr13	113714953	113714953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcgtgcttcgcccgaCgggttttttccaaaggactc	5	12	10	14	5	0	0	0	0	0	0	5	2	2	1	3	2	1	2	3	2	1	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr13:113714953C>T	ENST00000375608.3	+	6	564	c.506C>T	c.(505-507)aCg>aTg	p.T169M	MCF2L_ENST00000434480.2_Missense_Mutation_p.T145M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T143M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T143M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T196M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T139M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T169M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T137M|MCF2L_ENST00000397030.1_Missense_Mutation_p.T172M|MCF2L_ENST00000375597.4_Missense_Mutation_p.T137M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	169	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTTCGCCCGACGGGTTTTTTC	0.572																																																	0													67	64	65					13																	113714953		2203	4300	6503	SO:0001583	missense	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.506C>T	13.37:g.113714953C>T	ENSP00000364758:p.Thr169Met		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.T196M	ENST00000375608.3	37	c.587		13	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733946	0.69189	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000423251	D;D;D;D;D;D;D;D;T;D;D;T	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-0.17;-1.84;-1.84;0.19	5.22	5.22	0.72569	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.114219	0.64402	D	0.000016	D	0.91696	0.7375	M	0.71581	2.175	0.50039	D	0.999846	D;D;D;D;D;D	0.76494	0.995;0.995;0.995;0.996;0.999;0.996	D;D;D;D;D;D	0.67900	0.923;0.923;0.923;0.932;0.954;0.954	D	0.92564	0.6060	10	0.87932	D	0	.	18.806	0.92037	0.0:1.0:0.0:0.0	.	137;139;196;101;137;169	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	M	169;169;196;172;139;139;143;143;145;110;137;137;59	ENSP00000364758:T169M;ENSP00000401422:T169M;ENSP00000364754:T196M;ENSP00000380225:T172M;ENSP00000440374:T139M;ENSP00000397285:T143M;ENSP00000364751:T143M;ENSP00000407722:T145M;ENSP00000386551:T110M;ENSP00000405639:T137M;ENSP00000364747:T137M;ENSP00000405996:T59M	ENSP00000364747:T137M	T	+	2	0	MCF2L	112762954	0.992000	0.36948	0.039000	0.18376	0.379000	0.30106	5.518000	0.67068	2.427000	0.82271	0.655000	0.94253	ACG	MCF2L	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000126217		0.572	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4		0	15	0	C			113714953	1			no_errors	ENST00000375604	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.967	T	T	113714953	C	T	113714953	3	4	48	1	0	0	0	0	1	0	0	0	9417	536	19	1	700	1	MCF2L	13	113714953	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	55507489	113714953	1454925	120	11664											
SRP54	6729	genome.wustl.edu	37	chr14	35482573	35482573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgataacattgtttatGtgatggatgcctccattggg	10	14	10	7	0	0	2	0	2	0	0	1	3	1	3	3	2	3	1	3	2	3	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr14:35482573G>T	ENST00000556994.1	+	10	1055	c.658G>T	c.(658-660)Gtg>Ttg	p.V220L	SRP54_ENST00000546080.1_Missense_Mutation_p.V171L|SRP54_ENST00000216774.6_Missense_Mutation_p.V220L|SRP54_ENST00000555557.1_Missense_Mutation_p.V156L			P61011	SRP54_HUMAN	signal recognition particle 54kDa	220	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CATTGTTTATGTGATGGATGC	0.353																																																	0													77	75	76					14																	35482573		2203	4300	6503	SO:0001583	missense	0			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.658G>T	14.37:g.35482573G>T	ENSP00000451818:p.Val220Leu		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	p.V220L	ENST00000556994.1	37	c.658	CCDS9652.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.412580	0.96072	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.5	5.5	0.81552	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.120365	0.56097	D	0.000021	D	0.87067	0.6085	H	0.99475	4.585	0.80722	D	1	D;D	0.57571	0.98;0.964	P;P	0.52217	0.693;0.605	D	0.92776	0.6236	9	0.87932	D	0	-20.3308	17.5804	0.87966	0.0:0.0:1.0:0.0	.	171;220	B4DUW6;P61011	.;SRP54_HUMAN	L	220;220;171;156	.	ENSP00000216774:V220L	V	+	1	0	SRP54	34552324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.586000	0.87340	0.655000	0.94253	GTG	SRP54	-	pfam_SRP54_GTPase_dom,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	ENSG00000100883		0.353	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP54	HGNC	protein_coding	OTTHUMT00000276643.2		0	43	0	G	NM_003136		35482573	1			no_errors	ENST00000216774	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	35482573	G	T	35482573	3	4	48	1	0	0	0	0	1	0	0	0	15202	1377	48	3	688	3	SRP54	14	35482573	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09		35482573	71866967	121	11665											
FRMD6	122786	genome.wustl.edu	37	chr14	52194517	52194517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagcttgagcctcgatGacatcagactttaccagaaa	14	8	8	11	1	1	4	1	2	0	2	2	6	1	4	2	0	3	1	2	0	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr14:52194517G>T	ENST00000344768.5	+	14	1835	c.1639G>T	c.(1639-1641)Gac>Tac	p.D547Y	FRMD6_ENST00000553556.1_Missense_Mutation_p.D189Y|FRMD6_ENST00000554167.1_Missense_Mutation_p.D470Y|FRMD6_ENST00000395718.2_Missense_Mutation_p.D539Y|FRMD6_ENST00000356218.4_Missense_Mutation_p.D539Y			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	547					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GAGCCTCGATGACATCAGACT	0.463																																																	0													164	138	147					14																	52194517		2203	4300	6503	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1639G>T	14.37:g.52194517G>T	ENSP00000343899:p.Asp547Tyr		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.D547Y	ENST00000344768.5	37	c.1639	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736432	0.89482	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000553556	D;D;D;D	0.88354	-2.37;-2.37;-2.14;-1.97	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.996	D	0.93456	0.6806	10	0.87932	D	0	.	20.017	0.97481	0.0:0.0:1.0:0.0	.	470;547;539	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	Y	539;539;547;470;189	ENSP00000348550:D539Y;ENSP00000379068:D539Y;ENSP00000343899:D547Y;ENSP00000451977:D470Y	ENSP00000343899:D547Y	D	+	1	0	FRMD6	51264267	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GAC	FRMD6	-	NULL	ENSG00000139926		0.463	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	-	0	40	0	G	NM_152330		52194517	1	tier1	-	no_errors	ENST00000344768	ensembl	human	known	74_37	missense	9.84	55	6	SNP	1.000	T	T	52194517	G	T	52194517	3	4	48	1	0	0	0	0	1	0	0	0	6078	1290	45	3	1665	3	FRMD6	14	52194517	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	16711944	52194517	55155023	122	11666											
RTN1	6252	genome.wustl.edu	37	chr14	60194227	60194227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggctggggatggttggcGgtccggacctggccttgacc	3	8	20	10	2	0	1	0	1	0	0	1	3	1	3	4	9	0	2	4	9	0	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr14:60194227G>T	ENST00000267484.5	-	3	1510	c.1175C>A	c.(1174-1176)cCg>cAg	p.P392Q		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	392					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P392L(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GATGGTTGGCGGTCCGGACCT	0.672																																																	1	Substitution - Missense(1)	large_intestine(1)											16	16	16					14																	60194227		2197	4292	6489	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1175C>A	14.37:g.60194227G>T	ENSP00000267484:p.Pro392Gln		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.P392Q	ENST00000267484.5	37	c.1175	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	G	3.409	-0.120549	0.06838	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.22945	1.93	5.49	-0.677	0.11357	.	1.223610	0.05794	N	0.610853	T	0.16854	0.0405	L	0.29908	0.895	0.20975	N	0.999819	B	0.25743	0.133	B	0.22880	0.042	T	0.31081	-0.9956	10	0.19147	T	0.46	.	6.9424	0.24500	0.3684:0.4399:0.1917:0.0	.	392	Q16799	RTN1_HUMAN	Q	392;318	ENSP00000267484:P392Q	ENSP00000267484:P392Q	P	-	2	0	RTN1	59263980	0.022000	0.18835	0.967000	0.41034	0.084000	0.17831	0.028000	0.13644	-0.016000	0.14127	-0.878000	0.02970	CCG	RTN1	-	NULL	ENSG00000139970		0.672	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2		0	30	0	G			60194227	-1			no_errors	ENST00000267484	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.487	T	T	60194227	G	T	60194227	3	4	48	1	0	0	0	0	1	0	0	0	13770	1116	39	2	1248	2	RTN1	14	60194227	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	7999710	60194227	47155313	123	11667											
FSIP1	161835	genome.wustl.edu	37	chr15	40057884	40057884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgccaatattttatcaAgttttttcatcttctgaata	10	21	3	7	0	5	1	2	1	3	0	5	1	5	1	1	0	1	1	1	0	6	9			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr15:40057884A>G	ENST00000350221.3	-	4	583	c.374T>C	c.(373-375)cTt>cCt	p.L125P		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	125										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TATTTTATCAAGTTTTTTCAT	0.289																																																	0													95	96	96					15																	40057884		2201	4298	6499	SO:0001583	missense	0			BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.374T>C	15.37:g.40057884A>G	ENSP00000280236:p.Leu125Pro		Q6X2C8|Q86Y89	Missense_Mutation	SNP	NULL	p.L125P	ENST00000350221.3	37	c.374	CCDS10050.1	15	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621421	0.66787	.	.	ENSG00000150667	ENST00000350221	T	0.67865	-0.29	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000036	T	0.81173	0.4767	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82287	-0.0532	9	.	.	.	-10.372	13.4127	0.60952	1.0:0.0:0.0:0.0	.	125	Q8NA03	FSIP1_HUMAN	P	125	ENSP00000280236:L125P	.	L	-	2	0	FSIP1	37845176	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.006000	0.70724	2.153000	0.67306	0.459000	0.35465	CTT	FSIP1	-	NULL	ENSG00000150667		0.289	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSIP1	HGNC	protein_coding	OTTHUMT00000252118.2	-	0	86	0	A	NM_152597		40057884	-1	tier1	-	no_errors	ENST00000350221	ensembl	human	known	74_37	missense	21.88	125	35	SNP	1.000	G	G	40057884	A	G	40057884	3	3	48	1	0	0	0	0	1	0	0	0	6098	72	3	4	1407	4	FSIP1	15	40057884	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09		40057884	62473508	124	11668											
FBN1	2200	genome.wustl.edu	37	chr15	48712961	48712961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccccaatgatgttctggCagccatgctggcagcggtgg	7	8	14	12	1	1	1	0	1	1	0	1	1	1	1	3	4	4	4	3	4	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr15:48712961C>A	ENST00000316623.5	-	63	8197	c.7742G>T	c.(7741-7743)tGc>tTc	p.C2581F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2581	EGF-like 45; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> F (in MFS). {ECO:0000269|PubMed:11700157}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GATGTTCTGGCAGCCATGCTG	0.547																																																	0			GRCh37	CM013942|CM077269	FBN1	M							87	75	79					15																	48712961		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7742G>T	15.37:g.48712961C>A	ENSP00000325527:p.Cys2581Phe		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C2581F	ENST00000316623.5	37	c.7742	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.175632	0.94807	.	.	ENSG00000166147	ENST00000316623	D	0.99445	-5.91	5.99	5.99	0.97316	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.97265	3.97	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.97346	0.9960	10	0.87932	D	0	.	20.0728	0.97731	0.0:1.0:0.0:0.0	.	2581	P35555	FBN1_HUMAN	F	2581	ENSP00000325527:C2581F	ENSP00000325527:C2581F	C	-	2	0	FBN1	46500253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	TGC	FBN1	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.547	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	15	0	C			48712961	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	A	A	48712961	C	A	48712961	3	1	48	1	0	0	0	0	1	0	0	0	5724	710	25	3	889	3	FBN1	15	48712961	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	8655077	48712961	53818431	125	11669											
MAPK6	5597	genome.wustl.edu	37	chr15	52342251	52342251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtcttttactttctcCtaataattatactaaagcca	12	16	2	11	1	2	0	0	0	2	0	4	0	3	0	3	0	3	0	3	0	7	8			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr15:52342251C>T	ENST00000261845.5	+	3	1424	c.617C>T	c.(616-618)cCt>cTt	p.P206L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TTACTTTCTCCTAATAATTAT	0.368																																																	0													87	91	90					15																	52342251		2195	4293	6488	SO:0001583	missense	0			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.617C>T	15.37:g.52342251C>T	ENSP00000261845:p.Pro206Leu		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.P206L	ENST00000261845.5	37	c.617	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.259969	0.95368	.	.	ENSG00000069956	ENST00000261845	T	0.64991	-0.13	5.15	5.15	0.70609	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	N	0.25647	0.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74176	-0.3750	10	0.62326	D	0.03	-16.1034	18.6908	0.91582	0.0:1.0:0.0:0.0	.	206	Q16659	MK06_HUMAN	L	206	ENSP00000261845:P206L	ENSP00000261845:P206L	P	+	2	0	MAPK6	50129543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.815000	0.86186	2.417000	0.82017	0.650000	0.86243	CCT	MAPK6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	ENSG00000069956		0.368	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	-	0	37	0	C	NM_002748		52342251	1	tier1	-	no_errors	ENST00000261845	ensembl	human	known	74_37	missense	14.47	65	11	SNP	1.000	T	T	52342251	C	T	52342251	3	4	48	1	0	0	0	0	1	0	0	0	9319	681	24	3	623	3	MAPK6	15	52342251	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	3629290	52342251	50189141	126	11670											
TRIP4	9325	genome.wustl.edu	37	chr15	64687622	64687622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgggcagaaatcaggCgaccatctaaagcggggtag	13	7	14	7	2	2	2	1	0	1	2	2	3	2	2	1	4	1	2	1	4	5	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr15:64687622C>T	ENST00000261884.3	+	3	357	c.297C>T	c.(295-297)ggC>ggT	p.G99G	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	99					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGAAATCAGGCGACCATCTAA	0.383																																																	0													63	60	61					15																	64687622		2203	4300	6503	SO:0001819	synonymous_variant	0			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.297C>T	15.37:g.64687622C>T			B2RAS0|Q96ED7|Q9UKH0	Silent	SNP	pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain	p.G99	ENST00000261884.3	37	c.297	CCDS10194.1	15																																																																																			TRIP4	-	NULL	ENSG00000103671		0.383	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	HGNC	protein_coding	OTTHUMT00000256635.2		0	23	0	C	NM_016213		64687622	1			no_errors	ENST00000261884	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.973	T	T	64687622	C	T	64687622	2	4	48	1	0	0	0	0	0	0	0	1	16606	755	27	1		1	TRIP4	15	64687622	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	12345371	64687622	37843770	127	11671											
LBXCOR1	390598	genome.wustl.edu	37	chr15	68119146	68119146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgccccacaaaagcctgcGctgtggcgaagatgaggctg	9	5	14	13	3	0	2	0	1	0	1	0	3	0	2	4	2	2	2	4	2	3	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr15:68119146G>A	ENST00000380035.2	+	2	1038	c.980G>A	c.(979-981)cGc>cAc	p.R327H	SKOR1_ENST00000341418.5_Intron|SKOR1_ENST00000554240.1_Missense_Mutation_p.R288H|SKOR1_ENST00000554054.1_Missense_Mutation_p.R299H|SKOR1_ENST00000389002.1_Missense_Mutation_p.R283H			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	327					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AAAAGCCTGCGCTGTGGCGAA	0.756																																																	0													2	3	3					15																	68119146		1493	3242	4735	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.980G>A	15.37:g.68119146G>A	ENSP00000369374:p.Arg327His		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.R327H	ENST00000380035.2	37	c.980		15	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951620	0.53186	.	.	ENSG00000188779	ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T	0.74106	-0.79;-0.8;-0.81;-0.71	3.66	2.72	0.32119	.	0.146846	0.43919	D	0.000501	T	0.77082	0.4078	L	0.38175	1.15	0.28059	N	0.93306	D	0.76494	0.999	D	0.72075	0.976	T	0.68988	-0.5264	10	0.87932	D	0	-23.3305	9.182	0.37148	0.0:0.2231:0.7769:0.0	.	283	P84550-3	.	H	288;299;327;283	ENSP00000451193:R288H;ENSP00000452361:R299H;ENSP00000369374:R327H;ENSP00000373654:R283H	ENSP00000369374:R327H	R	+	2	0	SKOR1	65906200	0.997000	0.39634	0.949000	0.38748	0.700000	0.40528	3.233000	0.51311	0.859000	0.35456	0.456000	0.33151	CGC	SKOR1	-	NULL	ENSG00000188779		0.756	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	-	0	21	0	G	NM_001031807		68119146	1	tier1	-	no_errors	ENST00000380035	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.870	A	A	68119146	G	A	68119146	3	1	48	1	0	0	0	0	1	0	0	0	8683	1087	38	1	858	1	LBXCOR1	15	68119146	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	3431524	68119146	34412246	128	11672											
IDH2	3418	genome.wustl.edu	37	chr15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcccccccaggatgttcCggatagttccattgggactt	7	11	10	13	1	0	0	0	0	0	0	3	3	3	3	5	3	0	2	5	3	1	5	rs121913502		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	140	Substrate binding. {ECO:0000250}.		R -> G (in D2HGA2). {ECO:0000269|PubMed:20847235}.|R -> Q (in D2HGA2). {ECO:0000269|PubMed:20847235}.		2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R140Q(292)|p.R140L(8)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CAGGATGTTCCGGATAGTTCC	0.537			M		GBM																																			Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	300	Substitution - Missense(300)	haematopoietic_and_lymphoid_tissue(300)											103	103	103					15																	90631934		2200	4298	6498	SO:0001583	missense	0				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.419G>A	15.37:g.90631934C>T	ENSP00000331897:p.Arg140Gln		B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.R140Q	ENST00000330062.3	37	c.419	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604397	0.66445	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87179	-2.22;-2.22;-2.22	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	H	0.96833	3.89	0.48185	D	0.999601	D	0.89917	1.0	D	0.87578	0.998	D	0.96254	0.9185	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	Q	140;10;88	ENSP00000331897:R140Q;ENSP00000438457:R10Q;ENSP00000446147:R88Q	ENSP00000331897:R140Q	R	-	2	0	IDH2	88432938	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	7.797000	0.85911	1.397000	0.46682	-0.258000	0.10820	CGG	IDH2	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000182054		0.537	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	HGNC	protein_coding	OTTHUMT00000313426.1	-	0	35	0	C			90631934	-1	tier1	rs121913502	no_errors	ENST00000330062	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	90631934	C	T	90631934	3	4	48	1	0	0	0	0	1	0	0	0	7522	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	22512788	90631934	11899458	129	11673											
UNKL	64718	genome.wustl.edu	37	chr16	1416329	1416329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtggtgctgacagggcCgcaggacagcaccgtgggcc	7	5	18	11	2	0	1	0	1	0	0	0	3	0	3	3	5	2	3	3	5	0	0	rs570694066	byFrequency	TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:1416329C>T	ENST00000389221.4	-	15	1954	c.1955G>A	c.(1954-1956)cGg>cAg	p.R652Q	UNKL_ENST00000248104.7_Missense_Mutation_p.R201Q|UNKL_ENST00000397464.1_Missense_Mutation_p.R154Q|UNKL_ENST00000508903.2_Missense_Mutation_p.R705Q|UNKL_ENST00000391893.2_Missense_Mutation_p.R201Q|UNKL_ENST00000403703.1_Missense_Mutation_p.R204Q|UNKL_ENST00000402641.2_Missense_Mutation_p.R204Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	652					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CTGACAGGGCCGCAGGACAGC	0.682																																																	0													17	18	18					16																	1416329		2189	4292	6481	SO:0001583	missense	0			BC011924	CCDS32359.1, CCDS53980.1, CCDS61787.1	16p13.3	2014-03-10	2013-10-17		ENSG00000059145	ENSG00000059145		"Zinc fingers, CCCH-type domain containing"	14184	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 28", "unkempt homolog (Drosophila)-like"	C16orf28		20148946	Standard	NM_001193389		Approved	ZC3HDC5L, ZC3H5L, FLJ23360	uc031qup.1	Q9H9P5	OTTHUMG00000128553	ENST00000389221.4:c.1955G>A	16.37:g.1416329C>T	ENSP00000373873:p.Arg652Gln		B0QYN6|B1GXI8|Q96EV1|Q96RZ1|Q9BWL5|Q9H5K0|Q9UJJ8	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING	p.R652Q	ENST00000389221.4	37	c.1955	CCDS53981.1	16	.	.	.	.	.	.	.	.	.	.	C	0.227	-1.023826	0.02061	.	.	ENSG00000059145	ENST00000248104;ENST00000389221;ENST00000403703;ENST00000391893;ENST00000397464;ENST00000402641;ENST00000508903	T;T;T;T;T;T;T	0.78003	-0.27;-1.14;-0.27;-0.27;-1.14;-0.27;-1.14	4.48	-8.45	0.00946	Zinc finger, RING-type (2);	.	.	.	.	T	0.55986	0.1955	N	0.20766	0.605	0.80722	D	1	B;B;B	0.19935	0.022;0.04;0.017	B;B;B	0.12156	0.006;0.007;0.004	T	0.05733	-1.0867	9	0.23302	T	0.38	.	11.5188	0.50539	0.1065:0.1274:0.0:0.7661	.	652;201;705	Q9H9P5;Q9H9P5-3;E9PDK2	UNKL_HUMAN;.;.	Q	201;652;204;201;154;204;705	ENSP00000248104:R201Q;ENSP00000373873:R652Q;ENSP00000385895:R204Q;ENSP00000375763:R201Q;ENSP00000380606:R154Q;ENSP00000384850:R204Q;ENSP00000422852:R705Q	ENSP00000248104:R201Q	R	-	2	0	UNKL	1356330	0.876000	0.30132	0.001000	0.08648	0.016000	0.09150	-0.049000	0.11924	-1.777000	0.01283	-1.156000	0.01807	CGG	UNKL	-	pfscan_Znf_RING	ENSG00000059145		0.682	UNKL-201	KNOWN	basic|CCDS	protein_coding	UNKL	HGNC	protein_coding			0	41	0	C	NM_001037125		1416329	-1			no_errors	ENST00000389221	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.779	T	T	1416329	C	T	1416329	3	4	48	1	0	0	0	0	1	0	0	0	17050	652	23	1	91	1	UNKL	16	1416329	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		1416329	88938424	130	11674											
CORO7	79585	genome.wustl.edu	37	chr16	4412735	4412735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactgggaggggaagagaaaCcctcctggggaggggcatgg	11	4	19	7	0	0	1	0	0	0	1	1	5	1	4	2	8	2	1	2	8	3	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:4412735C>T	ENST00000251166.4	-	15	1425	c.1280G>A	c.(1279-1281)gGt>gAt	p.G427D	CORO7_ENST00000423908.2_Missense_Mutation_p.G259D|CORO7_ENST00000539968.1_Missense_Mutation_p.G207D|CORO7_ENST00000574025.1_Missense_Mutation_p.G342D|CORO7_ENST00000537233.2_Missense_Mutation_p.G409D|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G427D	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	427					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GGAAGAGAAACCCTCCTGGGG	0.677																																																	0													25	25	25					16																	4412735		2186	4296	6482	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1280G>A	16.37:g.4412735C>T	ENSP00000251166:p.Gly427Asp		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G427D	ENST00000251166.4	37	c.1280	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	8.037	0.763031	0.15914	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.64438	-0.09;-0.1;2.54	5.07	4.12	0.48240	.	0.746502	0.12582	N	0.456339	T	0.56352	0.1979	L	0.60455	1.87	0.42783	D	0.993873	B;B;B;B;B;B	0.16396	0.006;0.003;0.001;0.017;0.001;0.003	B;B;B;B;B;B	0.17098	0.008;0.004;0.001;0.017;0.005;0.003	T	0.46345	-0.9198	10	0.13470	T	0.59	-41.4711	11.6956	0.51542	0.0:0.9162:0.0:0.0838	.	342;409;207;207;427;408	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	D	427;342;207;259	ENSP00000251166:G427D;ENSP00000446221:G207D;ENSP00000391530:G259D	ENSP00000251166:G427D	G	-	2	0	CORO7	4352736	1.000000	0.71417	0.998000	0.56505	0.070000	0.16714	2.504000	0.45416	1.124000	0.41980	-0.263000	0.10527	GGT	CORO7-PAM16	-	NULL	ENSG00000103426		0.677	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0	38	0	C	NM_024535		4412735	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	T	T	4412735	C	T	4412735	3	4	48	1	0	0	0	0	1	0	0	0	3766	507	18	3	1553	3	CORO7	16	4412735	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	2996406	4412735	85942018	131	11675											
C16orf63	123811	genome.wustl.edu	37	chr16	15961369	15961369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcctcctttcttaggtgGtcatctgaaatgcacagaaa	10	14	8	9	0	3	2	1	1	2	1	5	2	5	2	2	2	1	2	2	2	3	3	rs60244915	byFrequency	TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:15961369G>T	ENST00000255759.6	-	5	482	c.453C>A	c.(451-453)gaC>gaA	p.D151E	FOPNL_ENST00000575073.1_3'UTR|FOPNL_ENST00000573429.1_Missense_Mutation_p.D175E|FOPNL_ENST00000575744.1_Missense_Mutation_p.D85E|FOPNL_ENST00000573396.1_3'UTR|FOPNL_ENST00000573968.1_Missense_Mutation_p.D77E	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	151					cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.D151D(1)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						TTCTTAGGTGGTCATCTGAAA	0.348																																																	1	Substitution - coding silent(1)	stomach(1)											121	98	106					16																	15961369		2197	4300	6497	SO:0001583	missense	0			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"pluripotent embryonic stem cell-related protein", "FOP-related protein of 20 kDa"		"chromosome 16 open reading frame 63"	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.453C>A	16.37:g.15961369G>T	ENSP00000255759:p.Asp151Glu		B3KPU9	Missense_Mutation	SNP	pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D151E	ENST00000255759.6	37	c.453	CCDS10567.1	16	.	.	.	.	.	.	.	.	.	.	G	10.78	1.446928	0.25987	.	.	ENSG00000133393	ENST00000255759	.	.	.	4.93	-9.86	0.00473	.	1.257920	0.05225	N	0.509218	T	0.13372	0.0324	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.19289	-1.0310	9	0.02654	T	1	-33.874	5.8307	0.18579	0.0869:0.1725:0.4837:0.2569	.	77;151	B3KPU9;Q96NB1	.;FOPNL_HUMAN	E	151	.	ENSP00000255759:D151E	D	-	3	2	FOPNL	15868870	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.722000	0.01868	-2.361000	0.00609	-4.005000	0.00013	GAC	FOPNL	-	NULL	ENSG00000133393		0.348	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOPNL	HGNC	protein_coding	OTTHUMT00000252177.2		0	27	0	G	NM_144600		15961369	-1			no_errors	ENST00000255759	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	15961369	G	T	15961369	3	4	48	1	0	0	0	0	1	0	0	0	1831	1252	44	3	75	3	C16orf63	16	15961369	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	11548634	15961369	74393384	132	11676											
GPR139	124274	genome.wustl.edu	37	chr16	20043988	20043988	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgatcactgtcaagataTttgctgtggagagaagaaaa	15	10	12	4	0	2	4	2	1	0	3	2	7	2	6	0	2	1	1	0	2	5	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:20043988T>G	ENST00000570682.1	-	2	431	c.131A>C	c.(130-132)aAt>aCt	p.N44T		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	44					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGTCAAGATATTTGCTGTGGA	0.488																																																	0													41	42	42					16																	20043988		2203	4300	6503	SO:0001583	missense	0			AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.131A>C	16.37:g.20043988T>G	ENSP00000458791:p.Asn44Thr		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.N44T	ENST00000570682.1	37	c.131	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	T	18.49	3.634367	0.67130	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.80625	-0.1299	9	0.87932	D	0	-28.7629	14.7183	0.69286	0.0:0.0:0.0:1.0	.	44	Q6DWJ6	GP139_HUMAN	T	44	.	ENSP00000370779:N44T	N	-	2	0	GPR139	19951489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	2.132000	0.65825	0.460000	0.39030	AAT	GPR139	-	prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180269		0.488	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1		0	21	0	T	NM_001002911		20043988	-1			no_errors	ENST00000570682	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	G	G	20043988	T	G	20043988	3	3	48	1	0	0	0	0	1	0	0	0	6674	1493	52	4	934	4	GPR139	16	20043988	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	4082619	20043988	70310765	133	11677											
PRKCB	5579	genome.wustl.edu	37	chr16	24192246	24192246	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagactacatcgccccCgaggtgagagctgctgggca	9	6	12	14	2	0	2	0	1	0	2	2	4	1	2	3	2	3	3	3	2	1	1	rs367690547		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:24192246C>A	ENST00000321728.7	+	13	1705	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	PRKCB_ENST00000303531.7_Silent_p.P510P	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	ACATCGCCCCCGAGGTGAGAG	0.547																																																	0													127	116	120					16																	24192246		2197	4300	6497	SO:0001819	synonymous_variant	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1530C>A	16.37:g.24192246C>A			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.P510	ENST00000321728.7	37	c.1530	CCDS10618.1	16																																																																																			PRKCB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom	ENSG00000166501		0.547	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	56	0	C	NM_212535		24192246	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	silent	17.72	65	14	SNP	0.009	A	A	24192246	C	A	24192246	2	1	48	1	0	0	0	0	0	0	0	1	12550	639	23	2		2	PRKCB	16	24192246	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	4148258	24192246	66162507	134	11678											
SETD1A	9739	genome.wustl.edu	37	chr16	30976498	30976498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggagaccaccaatgagAgtgtgcccttcgcccagcac	9	5	10	17	2	0	2	0	1	0	2	1	4	0	2	6	1	2	1	6	1	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:30976498A>T	ENST00000262519.8	+	7	2121	c.1435A>T	c.(1435-1437)Agt>Tgt	p.S479C		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	479	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CACCAATGAGAGTGTGCCCTT	0.637																																																	0													38	39	39					16																	30976498		2197	4300	6497	SO:0001583	missense	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.1435A>T	16.37:g.30976498A>T	ENSP00000262519:p.Ser479Cys		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S479C	ENST00000262519.8	37	c.1435	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020740	0.54576	.	.	ENSG00000099381	ENST00000262519	D	0.95518	-3.73	5.55	5.55	0.83447	.	0.050145	0.85682	D	0.000000	D	0.95906	0.8667	L	0.34521	1.04	0.43936	D	0.996598	D	0.89917	1.0	D	0.73380	0.98	D	0.96597	0.9442	10	0.72032	D	0.01	.	14.6663	0.68910	1.0:0.0:0.0:0.0	.	479	O15047	SET1A_HUMAN	C	479	ENSP00000262519:S479C	ENSP00000262519:S479C	S	+	1	0	SETD1A	30883999	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	4.877000	0.63086	2.102000	0.63906	0.459000	0.35465	AGT	SETD1A	-	NULL	ENSG00000099381		0.637	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	-	0	24	0	A	NM_014712		30976498	1	tier1	-	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T	T	30976498	A	T	30976498	3	4	48	1	0	0	0	0	1	0	0	0	14175	304	11	5	1457	5	SETD1A	16	30976498	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09	6784252	30976498	59378255	135	11679											
CBLN1	869	genome.wustl.edu	37	chr16	49315306	49315306	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacgatgggctccgtcTcattctgcccgcgggccggg	4	7	14	16	5	2	0	1	0	2	0	4	1	3	0	4	3	2	2	4	3	0	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:49315306T>G	ENST00000219197.6	-	1	436	c.71A>C	c.(70-72)gAg>gCg	p.E24A	CBLN1_ENST00000536749.1_Missense_Mutation_p.E24A	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	24					cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GGGCTCCGTCTCATTCTGCCC	0.741																																																	0													19	20	19					16																	49315306		2199	4296	6495	SO:0001583	missense	0			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.71A>C	16.37:g.49315306T>G	ENSP00000219197:p.Glu24Ala		B2RAN9|P02682|Q52M09	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.E24A	ENST00000219197.6	37	c.71	CCDS10736.1	16	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578669	0.65878	.	.	ENSG00000102924	ENST00000219197;ENST00000536749	D;D	0.82433	-1.61;-1.61	3.88	3.88	0.44766	.	0.056754	0.64402	D	0.000002	T	0.78291	0.4260	L	0.50333	1.59	0.58432	D	0.999999	B	0.33135	0.399	B	0.32677	0.15	T	0.79899	-0.1608	10	0.66056	D	0.02	-15.7532	12.5042	0.55972	0.0:0.0:0.0:1.0	.	24	P23435	CBLN1_HUMAN	A	24	ENSP00000219197:E24A;ENSP00000444651:E24A	ENSP00000219197:E24A	E	-	2	0	CBLN1	47872807	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.195000	0.77798	1.622000	0.50330	0.379000	0.24179	GAG	CBLN1	-	NULL	ENSG00000102924		0.741	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4		0	40	0	T	NM_004352		49315306	-1			no_errors	ENST00000219197	ensembl	human	known	74_37	missense	11.11	23	3	SNP	1.000	G	G	49315306	T	G	49315306	3	3	48	1	0	0	0	0	1	0	0	0	2711	1551	54	4	522	4	CBLN1	16	49315306	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	18338808	49315306	41039447	136	11680											
CDH5	1003	genome.wustl.edu	37	chr16	66426223	66426225	+	In_Frame_Del	DEL	AGA	AGA	-																															cttccagctgaaggaaaaccAgaagaagcctctgattggca																										TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:66426223_66426225delAGA	ENST00000341529.3	+	7	1302_1304	c.1154_1156delAGA	c.(1153-1158)cagaag>cag	p.K387del	CDH5_ENST00000563425.2_In_Frame_Del_p.K387del	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	AAGGAAAACCAGAAGAAGCCTCT	0.537																																																	0																																										SO:0001651	inframe_deletion	0			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1154_1156delAGA	16.37:g.66426226_66426228delAGA	ENSP00000344115:p.Lys387del		Q4VAI5|Q4VAI6	In_Frame_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K387in_frame_del	ENST00000341529.3	37	c.1154_1156	CCDS10804.1	16																																																																																			CDH5	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000179776		0.537	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	HGNC	protein_coding	OTTHUMT00000268767.1		0	21	0	AGA	NM_001795		66426225	1	tier1		no_errors	ENST00000341529	ensembl	human	known	74_37	in_frame_del	29.41	12	5	DEL	0.004:0.089:0.738	-	-	66426225	AGA	-	66426223	7	5	48	1	0	1	0	1	0	0	0	0	3120	188	7	0	1176	0	CDH5	16	66426223	In_Frame_Del	DEL	AGA	TCGA-L5-A43C-01A-11D-A247-09	17110917	66426223	23928530	137	11681											
C16orf74	404550	genome.wustl.edu	37	chr16	85743840	85743840	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatgatgtcgggcacGtccaggtgcttgtcgttcag	6	12	15	8	3	1	3	1	3	0	0	4	3	2	3	1	2	1	3	1	2	0	2	rs374494410		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr16:85743840G>A	ENST00000284245.4	-	3	285	c.102C>T	c.(100-102)gaC>gaT	p.D34D	C16orf74_ENST00000602766.1_De_novo_Start_OutOfFrame|C16orf74_ENST00000602583.1_Silent_p.D22D|C16orf74_ENST00000602675.1_De_novo_Start_OutOfFrame|C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602719.1_Silent_p.D34D|C16orf74_ENST00000602914.1_Intron	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	34																	TGTCGGGCACGTCCAGGTGCT	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		15264	0		0	False		,,,				2504	0																0								G		4,4284		0,4,2140	17	22	20		102	0.4	0.9	16	dbSNP_134	20	0,8498		0,0,4249	no	coding-synonymous	C16orf74	NM_206967.2		0,4,6389	AA,AG,GG		0.0,0.0933,0.0313		34/77	85743840	4,12782	2144	4249	6393	SO:0001819	synonymous_variant	0			BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.102C>T	16.37:g.85743840G>A				Silent	SNP	NULL	p.D34	ENST00000284245.4	37	c.102	CCDS45540.1	16																																																																																			C16orf74	-	NULL	ENSG00000154102		0.657	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf74	HGNC	protein_coding	OTTHUMT00000467253.1	-	0	21	0	G	NM_206967		85743840	-1	tier1	-	no_errors	ENST00000284245	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.976	A	A	85743840	G	A	85743840	2	1	48	1	0	0	0	0	0	0	0	1	1838	1136	40	1		1	C16orf74	16	85743840	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	19317617	85743840	4610913	138	11682											
TRPV1	7442	genome.wustl.edu	37	chr17	3493244	3493244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcacaaacttcgtgttgtCggccgtgttgtcggccacct	5	12	11	13	5	1	0	1	0	0	0	4	0	1	0	3	2	1	2	3	2	1	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:3493244C>T	ENST00000571088.1	-	6	1114	c.901G>A	c.(901-903)Gac>Aac	p.D301N	TRPV1_ENST00000310522.5_Missense_Mutation_p.D301N|TRPV1_ENST00000399756.4_Missense_Mutation_p.D301N|SHPK_ENST00000572705.1_Missense_Mutation_p.D301N|TRPV1_ENST00000174621.6_Missense_Mutation_p.D299N|TRPV1_ENST00000399759.3_Missense_Mutation_p.D301N|TRPV1_ENST00000576351.1_Missense_Mutation_p.D301N|TRPV1_ENST00000425167.2_Missense_Mutation_p.D301N	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	301					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TTcgtgttgtcggccgtgttg	0.612																																					Melanoma(38;962 1762 15789)												0													35	42	40					17																	3493244		2145	4235	6380	SO:0001583	missense	0			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.901G>A	17.37:g.3493244C>T	ENSP00000461007:p.Asp301Asn		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.D301N	ENST00000571088.1	37	c.901	CCDS45576.1	17	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726323	0.69074	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	4.88	4.88	0.63580	Ankyrin repeat-containing domain (3);	0.144771	0.64402	D	0.000009	T	0.54127	0.1839	L	0.50333	1.59	0.53688	D	0.999972	P;D;P;D	0.63880	0.796;0.983;0.885;0.993	B;P;B;P	0.46237	0.229;0.508;0.219;0.485	T	0.60115	-0.7326	10	0.56958	D	0.05	-27.0035	17.4129	0.87492	0.0:1.0:0.0:0.0	.	301;299;301;301	Q8NER1;E7EQ80;E7ESJ2;E7EQ78	TRPV1_HUMAN;.;.;.	N	301;301;299;301;301	ENSP00000382661:D301N;ENSP00000382659:D301N;ENSP00000174621:D299N;ENSP00000409627:D301N;ENSP00000311692:D301N	ENSP00000174621:D299N	D	-	1	0	TRPV1	3439993	1.000000	0.71417	0.944000	0.38274	0.639000	0.38242	5.625000	0.67770	2.439000	0.82584	0.467000	0.42956	GAC	TRPV1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000196689		0.612	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1	-	0	52	0	C	NM_018727		3493244	-1	tier1	-	no_errors	ENST00000399756	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	T	T	3493244	C	T	3493244	3	4	48	1	0	0	0	0	1	0	0	0	16643	884	31	1	1335	1	TRPV1	17	3493244	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		3493244	77701966	139	11683											
SPEM1	374768	genome.wustl.edu	37	chr17	7324809	7324809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgagacggcggcttcGggaactgacccgggaggtgg	8	5	19	9	4	0	2	0	2	0	1	1	6	0	5	1	7	1	1	1	7	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:7324809G>A	ENST00000323675.3	+	3	840	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	272					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CGGCGGCTTCGGGAACTGACC	0.632																																																	0													26	30	29					17																	7324809		1939	4125	6064	SO:0001583	missense	0			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.815G>A	17.37:g.7324809G>A	ENSP00000315554:p.Arg272Gln			Missense_Mutation	SNP	NULL	p.R272Q	ENST00000323675.3	37	c.815	CCDS42254.1	17	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645279	0.29246	.	.	ENSG00000181323	ENST00000323675	.	.	.	5.65	4.68	0.58851	.	0.155671	0.29646	N	0.011566	T	0.21509	0.0518	N	0.20986	0.625	0.09310	N	0.999999	P	0.35714	0.517	B	0.27170	0.077	T	0.11542	-1.0583	9	0.40728	T	0.16	-10.0643	10.6916	0.45875	0.0883:0.0:0.9117:0.0	.	272	Q8N4L4	SPEM1_HUMAN	Q	272	.	ENSP00000315554:R272Q	R	+	2	0	SPEM1	7265533	0.994000	0.37717	0.610000	0.28997	0.090000	0.18270	2.339000	0.43965	1.376000	0.46267	0.655000	0.94253	CGG	SPEM1	-	NULL	ENSG00000181323		0.632	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEM1	HGNC	protein_coding	OTTHUMT00000440932.1	-	0	28	0	G	NM_199339		7324809	1	tier1	-	no_errors	ENST00000323675	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.292	A	A	7324809	G	A	7324809	3	1	48	1	0	0	0	0	1	0	0	0	15084	1116	39	1	825	1	SPEM1	17	7324809	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	3831565	7324809	73870401	140	11684											
TP53	7157	genome.wustl.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G245S	ENST00000269305.4	37	c.733	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	61	0	C	NM_000546		7577548	-1	tier1	rs28934575	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	23.91	70	22	SNP	1.000	T	T	7577548	C	T	7577548	3	4	48	1	0	0	0	0	1	0	0	0	16429	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	252739	7577548	73617662	141	11685											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	27	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	7578406	C	T	7578406	3	4	48	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	858	7578406	73616804	142	11686											
ALDH3A2	224	genome.wustl.edu	37	chr17	19568349	19568349	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgctcaactctttcccatTtggaggagtgggtgagtctt	7	13	11	10	1	3	1	1	1	2	0	4	3	4	3	1	3	1	1	1	3	1	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:19568349T>A	ENST00000176643.6	+	8	1642	c.1196T>A	c.(1195-1197)tTt>tAt	p.F399Y	ALDH3A2_ENST00000395575.2_Missense_Mutation_p.F399Y|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.F399Y|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.F399Y|SNORA31_ENST00000516540.1_RNA|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.F399Y|ALDH3A2_ENST00000571163.1_Missense_Mutation_p.F72Y			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	399					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TCTTTCCCATTTGGAGGAGTG	0.458																																																	0													183	130	148					17																	19568349		2203	4300	6503	SO:0001583	missense	0			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"Aldehyde dehydrogenases"	403	protein-coding gene	gene with protein product	"fatty aldehyde dehydrogenase"	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.1196T>A	17.37:g.19568349T>A	ENSP00000176643:p.Phe399Tyr		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.F399Y	ENST00000176643.6	37	c.1196	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624888	0.87560	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	D;D;D	0.83335	-1.71;-1.71;-1.71	5.41	5.41	0.78517	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.91968	0.7456	M	0.93062	3.375	0.80722	D	1	P;D	0.58970	0.947;0.984	P;P	0.60541	0.876;0.803	D	0.93606	0.6934	10	0.66056	D	0.02	-23.1629	14.2813	0.66213	0.0:0.0:0.0:1.0	.	399;399	P51648;P51648-2	AL3A2_HUMAN;.	Y	399	ENSP00000176643:F399Y;ENSP00000378942:F399Y;ENSP00000345774:F399Y	ENSP00000176643:F399Y	F	+	2	0	ALDH3A2	19508941	1.000000	0.71417	0.992000	0.48379	0.843000	0.47879	7.683000	0.84093	2.055000	0.61198	0.533000	0.62120	TTT	ALDH3A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000072210		0.458	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	-	0	58	0	T			19568349	1	tier1	-	no_errors	ENST00000339618	ensembl	human	known	74_37	missense	10.99	81	10	SNP	1.000	A	A	19568349	T	A	19568349	3	1	48	1	0	0	0	0	1	0	0	0	498	1841	64	5	1226	5	ALDH3A2	17	19568349	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	11989943	19568349	61626861	143	11687											
CPD	1362	genome.wustl.edu	37	chr17	28791735	28791735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtatgaagatgaaattcGcatgatgtctaccggctcca	12	11	10	8	2	1	5	0	4	1	1	3	5	2	5	2	1	1	3	2	1	4	3	rs367904758		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:28791735G>A	ENST00000225719.4	+	21	4122	c.4046G>A	c.(4045-4047)cGc>cAc	p.R1349H	CPD_ENST00000543464.2_Missense_Mutation_p.R1102H	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1349						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GATGAAATTCGCATGATGTCT	0.423																																																	0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	181	165	171		3305,4046	5.6	1	17		171	0,8600		0,0,4300	no	missense,missense	CPD	NM_001199775.1,NM_001304.4	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	1102/1134,1349/1381	28791735	1,13005	2203	4300	6503	SO:0001583	missense	0			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"metallocarboxypeptidase D"	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.4046G>A	17.37:g.28791735G>A	ENSP00000225719:p.Arg1349His		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.R1349H	ENST00000225719.4	37	c.4046	CCDS11257.1	17	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495049	0.85069	2.27E-4	0.0	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.20200	2.09;3.18	5.63	5.63	0.86233	.	2.727150	0.01079	N	0.004958	T	0.44561	0.1299	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.953;0.996	T	0.13045	-1.0524	10	0.72032	D	0.01	-2.4783	18.6776	0.91534	0.0:0.0:1.0:0.0	.	1102;1349	F5GZH6;O75976	.;CBPD_HUMAN	H	1349;1102	ENSP00000225719:R1349H;ENSP00000444443:R1102H	ENSP00000225719:R1349H	R	+	2	0	CPD	25815861	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.150000	0.77403	2.626000	0.88956	0.655000	0.94253	CGC	CPD	-	NULL	ENSG00000108582		0.423	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPD	HGNC	protein_coding	OTTHUMT00000256214.3		0	23	0	G	NM_001304		28791735	1			no_errors	ENST00000225719	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	A	A	28791735	G	A	28791735	3	1	48	1	0	0	0	0	1	0	0	0	3805	1087	38	1	4128	1	CPD	17	28791735	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	9223386	28791735	52403475	144	11688											
MED1	5469	genome.wustl.edu	37	chr17	37566445	37566445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgagcatatttccatgcGgggtgagccggaagaggagt	9	7	15	10	3	0	2	0	1	0	1	1	5	1	4	4	4	3	1	4	4	2	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:37566445G>A	ENST00000300651.6	-	17	2252	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATTTCCATGCGGGGTGAGCCG	0.463										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													93	96	95					17																	37566445		2203	4300	6503	SO:0001583	missense	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2029C>T	17.37:g.37566445G>A	ENSP00000300651:p.Arg677Cys		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.R677C	ENST00000300651.6	37	c.2029	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374152	0.42105	.	.	ENSG00000125686	ENST00000300651	T	0.56275	0.47	5.59	5.59	0.84812	.	.	.	.	.	T	0.59487	0.2197	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.62215	-0.6901	9	0.66056	D	0.02	-6.1628	14.336	0.66589	0.0:0.0:0.8157:0.1843	.	677	Q15648	MED1_HUMAN	C	677	ENSP00000300651:R677C	ENSP00000300651:R677C	R	-	1	0	MED1	34819971	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.884000	0.48562	2.629000	0.89072	0.561000	0.74099	CGC	MED1	-	NULL	ENSG00000125686		0.463	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	-	0	26	0	G	NM_004774		37566445	-1	tier1	-	no_errors	ENST00000300651	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	37566445	G	A	37566445	3	1	48	1	0	0	0	0	1	0	0	0	9463	1116	39	1	2720	1	MED1	17	37566445	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	8774710	37566445	43628765	145	11689											
KRT25	147183	genome.wustl.edu	37	chr17	38906735	38906735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcttctggccctcggtctCggttctgacctggtgcagct	3	12	12	14	2	3	1	0	1	3	0	5	1	3	1	2	4	3	4	2	4	0	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:38906735C>T	ENST00000312150.4	-	6	1132	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCCTCGGTCTCGGTTCTGACC	0.567																																																	0													141	142	142					17																	38906735		2203	4300	6503	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1072G>A	17.37:g.38906735C>T	ENSP00000310573:p.Glu358Lys			Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.E358K	ENST00000312150.4	37	c.1072	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.710162	0.96821	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.90133	-2.62	5.52	5.52	0.82312	Filament (1);	0.096119	0.45606	D	0.000356	D	0.93943	0.8061	M	0.87547	2.89	0.52099	D	0.999942	P	0.39862	0.692	P	0.45343	0.477	D	0.94615	0.7808	10	0.87932	D	0	.	19.4386	0.94807	0.0:1.0:0.0:0.0	.	358	Q7Z3Z0	K1C25_HUMAN	K	287;358	ENSP00000310573:E358K	ENSP00000310573:E358K	E	-	1	0	KRT25	36160261	0.992000	0.36948	0.989000	0.46669	0.995000	0.86356	3.062000	0.49971	2.566000	0.86566	0.655000	0.94253	GAG	KRT25	-	pfam_IF,prints_Keratin_I	ENSG00000204897		0.567	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	-	0	62	0	C	NM_181534		38906735	-1	tier1	-	no_errors	ENST00000312150	ensembl	human	known	74_37	missense	5.94	94	6	SNP	1.000	T	T	38906735	C	T	38906735	3	4	48	1	0	0	0	0	1	0	0	0	8489	893	31	1	292	1	KRT25	17	38906735	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	1340290	38906735	42288475	146	11690											
FZD2	2535	genome.wustl.edu	37	chr17	42635995	42635995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgagcgcttctccgaggaCggttaccgcacggtggtgca	8	7	14	12	6	1	0	0	0	1	0	2	3	1	1	2	4	4	4	2	4	2	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:42635995C>T	ENST00000315323.3	+	1	1071	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	313					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCTCCGAGGACGGTTACCGCA	0.597																																																	0													71	66	67					17																	42635995		2203	4300	6503	SO:0001819	synonymous_variant	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.939C>T	17.37:g.42635995C>T			Q0VG82	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.D313	ENST00000315323.3	37	c.939	CCDS11484.1	17																																																																																			FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000180340		0.597	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	-	0	51	0	C	NM_001466		42635995	1	tier1	-	no_errors	ENST00000315323	ensembl	human	known	74_37	silent	17.57	61	13	SNP	1.000	T	T	42635995	C	T	42635995	2	4	48	1	0	0	0	0	0	0	0	1	6154	535	19	1		1	FZD2	17	42635995	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	3729260	42635995	38559215	147	11691											
TBX21	30009	genome.wustl.edu	37	chr17	45819977	45819977	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctcttctctccaggCggatgttcccattcctgtca	4	16	6	15	1	4	0	1	0	3	0	9	1	7	1	3	2	0	1	3	2	0	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:45819977C>T	ENST00000177694.1	+	2	704	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	165					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTCTCCAGGCGGATGTTCCC	0.607																																																	0													63	52	56					17																	45819977		2203	4299	6502	SO:0001630	splice_region_variant	0			AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"T-boxes"	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.492-1C>T	17.37:g.45819977C>T				Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R165W	ENST00000177694.1	37	c.493	CCDS11514.1	17	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249756	0.59212	.	.	ENSG00000073861	ENST00000177694	D	0.91351	-2.83	5.33	0.72	0.18214	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.384948	0.23840	N	0.044057	D	0.96119	0.8735	M	0.93550	3.43	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96213	0.9154	10	0.87932	D	0	.	15.2609	0.73621	0.6949:0.3051:0.0:0.0	.	165	Q9UL17	TBX21_HUMAN	W	165	ENSP00000177694:R165W	ENSP00000177694:R165W	R	+	1	2	TBX21	43174976	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	0.892000	0.28322	-0.026000	0.13895	0.561000	0.74099	CGG	TBX21	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000073861		0.607	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX21	HGNC	protein_coding	OTTHUMT00000441365.1	-	0	66	0	C	NM_013351	Missense_Mutation	45819977	1	tier1	-	no_errors	ENST00000177694	ensembl	human	known	74_37	missense	26.03	54	19	SNP	1.000	T	T	45819977	C	T	45819977	5	4	48	1	0	0	0	0	0	0	1	0	15704	782	27	1	499	1	TBX21	17	45819977	Splice_Site	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	3183982	45819977	35375233	148	11692											
MBTD1	54799	genome.wustl.edu	37	chr17	49270861	49270861	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaccatttaaaaggaagTtttgtgtaacctaaaaaaca	19	11	5	6	0	1	0	1	0	0	0	1	1	1	1	2	1	3	2	2	1	8	6			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:49270861T>G	ENST00000586178.1	-	14	1726	c.1383A>C	c.(1381-1383)aaA>aaC	p.K461N	MBTD1_ENST00000415868.1_Missense_Mutation_p.K461N|MBTD1_ENST00000376381.2_Missense_Mutation_p.N412T	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	461					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TAAAAGGAAGTTTTGTGTAAC	0.299																																																	0													53	51	51					17																	49270861		2203	4299	6502	SO:0001583	missense	0			AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1383A>C	17.37:g.49270861T>G	ENSP00000468304:p.Lys461Asn		Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.K461N	ENST00000586178.1	37	c.1383	CCDS11581.2	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.95|13.95	2.390157|2.390157	0.42410|0.42410	.|.	.|.	ENSG00000011258|ENSG00000011258	ENST00000405860;ENST00000415868|ENST00000376381	T|T	0.31769|0.28895	1.48|1.59	5.36|5.36	1.96|1.96	0.26148|0.26148	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.22399|0.22399	0.0540|0.0540	L|L	0.28014|0.28014	0.82|0.82	0.23568|0.23568	N|N	0.997394|0.997394	B;B|B	0.19445|0.32693	0.036;0.003|0.38	B;B|B	0.17979|0.36244	0.02;0.005|0.22	T|T	0.19516|0.19516	-1.0303|-1.0303	10|9	0.18710|0.37606	T|T	0.47|0.19	.|.	8.8569|8.8569	0.35234|0.35234	0.0:0.216:0.0:0.784|0.0:0.216:0.0:0.784	.|.	461;297|412	Q05BQ5;Q05BQ5-3|Q05BQ5-2	MBTD1_HUMAN;.|.	N|T	461|412	ENSP00000403946:K461N|ENSP00000365561:N412T	ENSP00000386072:K461N|ENSP00000365561:N412T	K|N	-|-	3|2	2|0	MBTD1|MBTD1	46625860|46625860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.548000|0.548000	0.23314|0.23314	0.433000|0.433000	0.26313|0.26313	0.455000|0.455000	0.32223|0.32223	AAA|AAC	MBTD1	-	pfam_Mbt	ENSG00000011258		0.299	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	-	0	21	0	T			49270861	-1	tier1	-	no_errors	ENST00000415868	ensembl	human	known	74_37	missense	14.89	39	7	SNP	1.000	G	G	49270861	T	G	49270861	3	3	48	1	0	0	0	0	1	0	0	0	9398	1722	60	4	519	4	MBTD1	17	49270861	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	3450884	49270861	31924349	149	11693											
SFRS2	6427	genome.wustl.edu	37	chr17	74732959	74732959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgtggtgtgagtccgggGggcggccgtagcgcgccatt	3	8	20	10	5	0	1	0	1	0	0	1	1	1	1	3	6	1	2	3	6	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr17:74732959G>A	ENST00000392485.2	-	1	456	c.284C>T	c.(283-285)cCc>cTc	p.P95L	MFSD11_ENST00000586622.1_5'UTR|SRSF2_ENST00000359995.5_Missense_Mutation_p.P95L|SRSF2_ENST00000508921.3_Missense_Mutation_p.P95L|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000591864.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	95					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TGAGTCCGGGGGGCGGCCGTA	0.726			Mis		"MDS, CLL"																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	185	Substitution - Missense(156)|Deletion - In frame(23)|Unknown(6)	haematopoietic_and_lymphoid_tissue(185)																																								SO:0001583	missense	0			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.284C>T	17.37:g.74732959G>A	ENSP00000376276:p.Pro95Leu		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.P95L	ENST00000392485.2	37	c.284	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451489	0.43531	.	.	ENSG00000161547	ENST00000392485;ENST00000508921;ENST00000358156	T	0.75050	-0.9	4.85	2.76	0.32466	.	0.063967	0.64402	N	0.000006	T	0.73753	0.3627	M	0.72894	2.215	0.80722	D	1	P;P	0.41524	0.753;0.753	P;P	0.44860	0.462;0.462	T	0.70547	-0.4842	10	0.48119	T	0.1	.	8.6596	0.34084	0.0814:0.0:0.7667:0.1519	.	95;95	B4DN89;Q01130	.;SRSF2_HUMAN	L	95;122;83	ENSP00000376276:P95L	ENSP00000350877:P83L	P	-	2	0	SRSF2	72244554	1.000000	0.71417	0.019000	0.16419	0.541000	0.35023	8.573000	0.90759	0.413000	0.25759	0.557000	0.71058	CCC	SRSF2	-	NULL	ENSG00000161547		0.726	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1		0	25	0	G	NM_003016		74732959	-1			no_errors	ENST00000359995	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.989	A	A	74732959	G	A	74732959	3	1	48	1	0	0	0	0	1	0	0	0	14220	1232	43	3	389	3	SFRS2	17	74732959	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	25462098	74732959	6462251	150	11694											
LAMA1	284217	genome.wustl.edu	37	chr18	7043225	7043225	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcaaagaaatactcttaCtttgtgtggtctataatatc	13	15	7	6	0	2	1	0	0	2	1	3	1	2	1	0	2	2	1	0	2	7	6			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr18:7043225C>T	ENST00000389658.3	-	8	1249		c.e8+1			NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AATACTCTTACTTTGTGTGGT	0.398																																																	0													209	195	199					18																	7043225		2203	4300	6503	SO:0001630	splice_region_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1155+1G>A	18.37:g.7043225C>T				Splice_Site	SNP	-	e8+1	ENST00000389658.3	37	c.1155+1	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752024	0.89753	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3277	0.98707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LAMA1	7033225	0.998000	0.40836	0.914000	0.36105	0.950000	0.60333	3.841000	0.55850	2.879000	0.98667	0.650000	0.86243	.	LAMA1	-	-	ENSG00000101680		0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	42	0	C	NM_005559	Intron	7043225	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	splice_site	18.07	68	15	SNP	1.000	T	T	7043225	C	T	7043225	5	4	48	1	0	0	0	0	0	0	1	0	8633	579	20	3	8295	3	LAMA1	18	7043225	Splice_Site	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		7043225	71034023	151	11695											
LAMA3	3909	genome.wustl.edu	37	chr18	21399944	21399944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctggagaggatatgccCaaatgacctcagtacaggta	13	9	11	8	0	1	2	1	1	0	1	1	4	1	3	2	3	3	3	2	3	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr18:21399944C>A	ENST00000313654.9	+	19	2528	c.2287C>A	c.(2287-2289)Caa>Aaa	p.Q763K	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q763K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	763					cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGGATATGCCCAAATGACCTC	0.512																																																	0													100	97	98					18																	21399944		1969	4150	6119	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2287C>A	18.37:g.21399944C>A	ENSP00000324532:p.Gln763Lys		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q763K	ENST00000313654.9	37	c.2287	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003923	0.19199	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.18502	2.23;2.21	5.71	5.71	0.89125	.	.	.	.	.	T	0.17746	0.0426	L	0.55834	1.745	0.80722	D	1	P;P	0.39282	0.544;0.666	B;B	0.33339	0.162;0.137	T	0.06734	-1.0810	9	0.12766	T	0.61	.	19.8533	0.96747	0.0:1.0:0.0:0.0	.	763;763	Q6VU67;Q16787	.;LAMA3_HUMAN	K	763;763;761	ENSP00000324532:Q763K;ENSP00000382432:Q763K	ENSP00000324532:Q763K	Q	+	1	0	LAMA3	19653942	0.084000	0.21492	1.000000	0.80357	0.949000	0.60115	1.298000	0.33412	2.695000	0.91970	0.555000	0.69702	CAA	LAMA3	-	NULL	ENSG00000053747		0.512	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0	22	0	C	NM_000227, NM_198129		21399944	1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	25.00	42	14	SNP	1.000	A	A	21399944	C	A	21399944	3	1	48	1	0	0	0	0	1	0	0	0	8635	595	21	3	2361	3	LAMA3	18	21399944	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	14356719	21399944	56677304	152	11696											
POLRMT	5442	genome.wustl.edu	37	chr19	621120	621120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccgcaaaggccaggcGcttccgcagcggctcccgct	5	6	11	19	5	0	0	0	0	0	0	4	0	4	0	5	3	1	5	5	3	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:621120G>A	ENST00000588649.2	-	10	2662	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	860	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCCAGGCGCTTCCGCAGC	0.692																																																	0													28	33	31					19																	621120		2203	4299	6502	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2578C>T	19.37:g.621120G>A	ENSP00000465759:p.Arg860Cys		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.R860C	ENST00000588649.2	37	c.2578	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247739	0.39697	.	.	ENSG00000099821	ENST00000215591	T	0.61274	0.12	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.82918	-0.0219	10	0.87932	D	0	-39.4919	11.4198	0.49974	0.0:0.0:0.8195:0.1805	.	860	O00411	RPOM_HUMAN	C	860	ENSP00000215591:R860C	ENSP00000215591:R860C	R	-	1	0	POLRMT	572120	1.000000	0.71417	0.400000	0.26346	0.003000	0.03518	3.477000	0.53151	2.283000	0.76528	0.455000	0.32223	CGC	POLRMT	-	pfam_DNA-dir_Rpol_phage-type	ENSG00000099821		0.692	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	-	0	56	0	G	NM_005035		621120	-1	tier1	-	no_errors	ENST00000588649	ensembl	human	known	74_37	missense	31.67	40	19	SNP	0.981	A	A	621120	G	A	621120	3	1	48	1	0	0	0	0	1	0	0	0	12277	1087	38	1	1162	1	POLRMT	19	621120	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09		621120	58507863	153	11697											
SGTA	6449	genome.wustl.edu	37	chr19	2763650	2763650	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggccgtggacaggcactcaCcccatcctgccgtaggcctt	6	7	11	17	3	1	0	1	0	0	0	2	1	2	1	6	4	1	2	6	4	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:2763650C>G	ENST00000221566.2	-	6	659		c.e6+1			NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha						viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCACTCACCCCATCCTGC	0.622																																																	0													52	45	47					19																	2763650		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"Tetratricopeptide (TTC) repeat domain containing"	10819	protein-coding gene	gene with protein product		603419	"small glutamine-rich tetratricopeptide repeat (TPR)-containing"	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.497+1G>C	19.37:g.2763650C>G			D6W610|Q6FIA9|Q9BTZ9	Splice_Site	SNP	-	e5+1	ENST00000221566.2	37	c.497+1	CCDS12094.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050905	0.75960	.	.	ENSG00000104969	ENST00000221566	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9419	0.64059	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SGTA	2714650	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.393000	0.79851	1.666000	0.50821	0.462000	0.41574	.	SGTA	-	-	ENSG00000104969		0.622	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	-	0	53	0	C	NM_003021	Intron	2763650	-1	tier1	-	no_errors	ENST00000221566	ensembl	human	known	74_37	splice_site	14.89	40	7	SNP	1.000	G	G	2763650	C	G	2763650	5	3	48	1	0	0	0	0	0	0	1	0	14270	521	18	5	467	5	SGTA	19	2763650	Splice_Site	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	2142530	2763650	56365333	154	11698											
ADAMTS10	81794	genome.wustl.edu	37	chr19	8651466	8651466	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgagagatgcattaatCggtcccagggcttcgaggct	10	9	13	9	3	0	2	0	1	0	1	3	5	1	2	1	3	1	3	1	3	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:8651466C>A	ENST00000597188.1	-	20	2649	c.2379G>T	c.(2377-2379)ccG>ccT	p.P793P	ADAMTS10_ENST00000270328.4_Silent_p.P793P|ADAMTS10_ENST00000595838.1_Silent_p.P280P	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	793	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATGCATTAATCGGTCCCAGGG	0.612											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	72	72					19																	8651466		2203	4300	6503	SO:0001819	synonymous_variant	0			AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"ADAM metallopeptidases with thrombospondin type 1 motif"	13201	protein-coding gene	gene with protein product		608990	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2379G>T	19.37:g.8651466C>A		81	M0QZE4	Silent	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P793	ENST00000597188.1	37	c.2379	CCDS12206.1	19																																																																																			ADAMTS10	-	pfam_ADAM_spacer1	ENSG00000142303		0.612	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS10	HGNC	protein_coding	OTTHUMT00000460085.3	-	0	46	0	C	NM_030957		8651466	-1	tier1	-	no_errors	ENST00000270328	ensembl	human	known	74_37	silent	23.33	46	14	SNP	0.429	A	A	8651466	C	A	8651466	2	1	48	1	0	0	0	0	0	0	0	1	256	871	31	2		2	ADAMTS10	19	8651466	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	5887816	8651466	50477517	155	11699											
ZNF558	148156	genome.wustl.edu	37	chr19	8922177	8922177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaagagaaaagctactgCtgaaggatttcccacactcg	14	8	9	10	1	0	2	0	1	0	1	2	4	1	3	1	1	3	3	1	1	5	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:8922177C>T	ENST00000601372.1	-	10	1700	c.989G>A	c.(988-990)aGc>aAc	p.S330N	ZNF558_ENST00000301475.1_Missense_Mutation_p.S330N|ZNF558_ENST00000444186.2_Missense_Mutation_p.S259N			Q96NG5	ZN558_HUMAN	zinc finger protein 558	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AAAGCTACTGCTGAAGGATTT	0.443																																																	0													85	83	84					19																	8922177		2203	4300	6503	SO:0001583	missense	0			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"Zinc fingers, C2H2-type", "-"	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.989G>A	19.37:g.8922177C>T	ENSP00000471277:p.Ser330Asn		A8K5F0|B7Z798	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S330N	ENST00000601372.1	37	c.989	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907447	0.52333	.	.	ENSG00000167785	ENST00000301475;ENST00000444186	T;T	0.07567	3.18;3.18	4.8	4.8	0.61643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000075	T	0.09202	0.0227	L	0.33093	0.98	0.25021	N	0.991335	P	0.49090	0.919	P	0.46850	0.529	T	0.24261	-1.0165	10	0.27785	T	0.31	.	11.1132	0.48246	0.0:0.8128:0.1872:0.0	.	330	Q96NG5	ZN558_HUMAN	N	330;259	ENSP00000301475:S330N;ENSP00000410703:S259N	ENSP00000301475:S330N	S	-	2	0	ZNF558	8783177	0.000000	0.05858	1.000000	0.80357	0.940000	0.58332	-0.752000	0.04797	2.483000	0.83821	0.591000	0.81541	AGC	ZNF558	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167785		0.443	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2	-	0	36	0	C	NM_144693		8922177	-1	tier1	-	no_errors	ENST00000301475	ensembl	human	known	74_37	missense	17.11	63	13	SNP	0.723	T	T	8922177	C	T	8922177	3	4	48	1	0	0	0	0	1	0	0	0	18037	797	28	3	223	3	ZNF558	19	8922177	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	270711	8922177	50206806	156	11700											
MAST1	22983	genome.wustl.edu	37	chr19	12969475	12969475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatatcctcaccttcgccGagaacccgtttgtggtcggc	6	10	11	14	5	1	1	1	0	0	1	4	3	2	1	4	2	1	1	4	2	2	3			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:12969475G>A	ENST00000251472.4	+	12	1327	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	MAST1_ENST00000591495.1_Missense_Mutation_p.E426K	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CACCTTCGCCGAGAACCCGTT	0.572																																																	0													99	85	90					19																	12969475		2203	4300	6503	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1288G>A	19.37:g.12969475G>A	ENSP00000251472:p.Glu430Lys			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.E430K	ENST00000251472.4	37	c.1288	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604538	0.87157	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.22743	1.94	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21307	0.0513	N	0.04116	-0.275	0.50467	D	0.999871	D;B	0.69078	0.997;0.194	D;B	0.64410	0.925;0.063	T	0.19910	-1.0291	10	0.87932	D	0	-32.6354	11.2321	0.48918	0.0:0.1859:0.814:0.0	.	430;430	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	K	430	ENSP00000251472:E430K	ENSP00000251472:E430K	E	+	1	0	MAST1	12830475	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	6.611000	0.74183	2.292000	0.77174	0.561000	0.74099	GAG	MAST1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105613		0.572	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	-	0	68	0	G	NM_014975		12969475	1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	12.64	76	11	SNP	0.998	A	A	12969475	G	A	12969475	3	1	48	1	0	0	0	0	1	0	0	0	9362	1059	37	1	1334	1	MAST1	19	12969475	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	4047298	12969475	46159508	157	11701											
BRD4	23476	genome.wustl.edu	37	chr19	15350513	15350513	+	Frame_Shift_Del	DEL	G	G	-																															ttgatgctctccgggtgcttGgggggctccggccgcagcga																										TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:15350513delG	ENST00000263377.2	-	16	3623	c.3402delC	c.(3400-3402)cccfs	p.P1134fs		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1134	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CCGGGTGCTTGGGGGGCTCCG	0.701			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													19	26	23					19																	15350513		2148	4230	6378	SO:0001589	frameshift_variant	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3402delC	19.37:g.15350513delG	ENSP00000263377:p.Pro1134fs		O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K1135fs	ENST00000263377.2	37	c.3402	CCDS12328.1	19																																																																																			BRD4	-	NULL	ENSG00000141867		0.701	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3		0	31	0	G	NM_058243		15350513	-1	tier1		no_errors	ENST00000263377	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.995	-	-	15350513	G	-	15350513	7	5	48	1	0	1	0	1	0	0	0	0	1508	1335	47	0	706	0	BRD4	19	15350513	Frame_Shift_Del	DEL	G	TCGA-L5-A43C-01A-11D-A247-09	2381038	15350513	43778470	158	11702											
OR10H5	284433	genome.wustl.edu	37	chr19	15904866	15904866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggggtggccgccatgcaggGgctaaaccacacctccgtgt	8	6	14	13	2	0	0	0	0	0	0	1	0	1	0	5	5	2	2	5	5	2	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:15904866G>A	ENST00000308940.8	+	1	106	c.8G>A	c.(7-9)gGg>gAg	p.G3E		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						GCCATGCAGGGGCTAAACCAC	0.572																																																	0													170	144	153					19																	15904866		2203	4300	6503	SO:0001583	missense	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.8G>A	19.37:g.15904866G>A	ENSP00000310704:p.Gly3Glu		Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G3E	ENST00000308940.8	37	c.8	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	3.352	-0.132342	0.06753	.	.	ENSG00000172519	ENST00000308940	T	0.02916	4.11	3.48	1.27	0.21489	.	0.361669	0.20115	N	0.098937	T	0.01523	0.0049	N	0.13168	0.305	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.49224	-0.8962	10	0.05351	T	0.99	.	7.3401	0.26632	0.2301:0.0:0.7699:0.0	.	3	Q8NGA6	O10H5_HUMAN	E	3	ENSP00000310704:G3E	ENSP00000310704:G3E	G	+	2	0	OR10H5	15765866	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.110000	0.10824	0.121000	0.18284	0.591000	0.81541	GGG	OR10H5	-	NULL	ENSG00000172519		0.572	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	-	0	76	0	G			15904866	1	tier1	-	no_errors	ENST00000308940	ensembl	human	known	74_37	missense	5.77	98	6	SNP	0.001	A	A	15904866	G	A	15904866	3	1	48	1	0	0	0	0	1	0	0	0	10948	1232	43	3	10	3	OR10H5	19	15904866	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	554353	15904866	43224117	159	11703											
HAUS5	23354	genome.wustl.edu	37	chr19	36110964	36110964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaccagctgcaccccgCgtccccaaggggctccagct	7	5	9	20	2	0	0	0	0	0	0	3	0	3	0	7	2	3	4	7	2	1	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:36110964C>T	ENST00000203166.5	+	16	1482	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	486					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTGCACCCCGCGTCCCCAAGG	0.667																																																	0													75	88	84					19																	36110964		2019	4171	6190	SO:0001583	missense	0			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1457C>T	19.37:g.36110964C>T	ENSP00000439056:p.Ala486Val		B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	NULL	p.A486V	ENST00000203166.5	37	c.1457	CCDS42550.1	19	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439574	0.25900	.	.	ENSG00000249115	ENST00000203166	T	0.35973	1.28	4.81	0.324	0.15898	.	1.401800	0.04720	N	0.419097	T	0.28300	0.0699	L	0.50333	1.59	0.09310	N	1	B	0.21520	0.057	B	0.17433	0.018	T	0.23833	-1.0177	10	0.02654	T	1	-1.9637	7.4042	0.26981	0.0:0.5468:0.0:0.4532	.	486	O94927	HAUS5_HUMAN	V	486	ENSP00000439056:A486V	ENSP00000439056:A486V	A	+	2	0	HAUS5	40802804	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	1.954000	0.40362	0.014000	0.14944	-0.150000	0.13652	GCG	HAUS5	-	NULL	ENSG00000249115		0.667	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	-	0	59	0	C			36110964	1	tier1	-	no_errors	ENST00000203166	ensembl	human	known	74_37	missense	13.58	70	11	SNP	0.000	T	T	36110964	C	T	36110964	3	4	48	1	0	0	0	0	1	0	0	0	6996	768	27	1	1519	1	HAUS5	19	36110964	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	20206098	36110964	23018019	160	11704											
NFKBID	84807	genome.wustl.edu	37	chr19	36387329	36387329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgtaggtagcggccaCgtgcaagaccgaacgtccct	9	5	13	14	5	0	1	0	0	0	1	1	3	1	1	4	2	4	3	4	2	4	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:36387329C>T	ENST00000396901.1	-	7	943	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	NFKBID_ENST00000606253.1_Missense_Mutation_p.V124M|NFKBID_ENST00000352614.2_Missense_Mutation_p.V276M|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	124					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						GTAGCGGCCACGTGCAAGACC	0.617																																																	0													67	78	75					19																	36387329		2008	4165	6173	SO:0001583	missense	0			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"Ankyrin repeat domain containing"	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.370G>A	19.37:g.36387329C>T	ENSP00000380109:p.Val124Met		Q8NI39|Q9BRG9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V276M	ENST00000396901.1	37	c.826	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918193	0.52546	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.65916	-0.18;-0.18	4.81	1.09	0.20402	Ankyrin repeat-containing domain (4);	0.243720	0.34580	N	0.003849	T	0.40909	0.1136	L	0.35644	1.08	0.80722	D	1	P;B	0.42961	0.795;0.3	B;B	0.34452	0.183;0.098	T	0.32955	-0.9887	10	0.62326	D	0.03	.	4.1462	0.10217	0.152:0.5803:0.1693:0.0984	.	276;124	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	M	276;124	ENSP00000252985:V276M;ENSP00000380109:V124M	ENSP00000252985:V276M	V	-	1	0	NFKBID	41079169	0.581000	0.26741	0.929000	0.37066	0.914000	0.54420	0.804000	0.27098	0.958000	0.37956	0.561000	0.74099	GTG	NFKBID	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167604		0.617	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000452927.3	-	0	51	0	C	NM_032721		36387329	-1	tier1	-	no_errors	ENST00000352614	ensembl	human	known	74_37	missense	25.81	69	24	SNP	0.708	T	T	36387329	C	T	36387329	3	4	48	1	0	0	0	0	1	0	0	0	10418	536	19	1	595	1	NFKBID	19	36387329	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	276365	36387329	22741654	161	11705											
GRIK5	2901	genome.wustl.edu	37	chr19	42507533	42507533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatatgaattccatgaccGccacgaagacagcaatgatg	15	7	8	11	2	0	4	0	3	0	1	1	5	1	4	4	0	1	1	4	0	4	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:42507533G>A	ENST00000262895.3	-	18	2464	c.2465C>T	c.(2464-2466)gCg>gTg	p.A822V	GRIK5_ENST00000301218.4_Missense_Mutation_p.A822V|GRIK5_ENST00000593562.1_Missense_Mutation_p.A822V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	822					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TTCCATGACCGCCACGAAGAC	0.597																																																	0													91	78	82					19																	42507533		2203	4300	6503	SO:0001583	missense	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2465C>T	19.37:g.42507533G>A	ENSP00000262895:p.Ala822Val		Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A822V	ENST00000262895.3	37	c.2465	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831420	0.91036	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	T;T	0.15139	2.49;2.45	4.31	4.31	0.51392	.	0.000000	0.64402	D	0.000002	T	0.28532	0.0706	M	0.69823	2.125	0.58432	D	0.999998	D	0.53745	0.962	P	0.47376	0.545	T	0.18209	-1.0344	10	0.87932	D	0	.	15.696	0.77499	0.0:0.0:1.0:0.0	.	822	Q16478	GRIK5_HUMAN	V	822	ENSP00000262895:A822V;ENSP00000301218:A822V	ENSP00000262895:A822V	A	-	2	0	GRIK5	47199373	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	9.344000	0.97050	2.218000	0.71995	0.561000	0.74099	GCG	GRIK5	-	prints_NMDA_rcpt	ENSG00000105737		0.597	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	-	0	40	0	G			42507533	-1	tier1	-	no_errors	ENST00000301218	ensembl	human	known	74_37	missense	25.00	45	15	SNP	1.000	A	A	42507533	G	A	42507533	3	1	48	1	0	0	0	0	1	0	0	0	6804	1087	38	1	485	1	GRIK5	19	42507533	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	6120204	42507533	16621450	162	11706											
IRGC	56269	genome.wustl.edu	37	chr19	44223001	44223001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccacgatgcaaccgtcGccctatccacacccacagtt	11	6	7	17	3	0	1	0	0	0	1	2	3	1	1	5	0	2	2	5	0	2	2	rs11555892		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:44223001G>A	ENST00000244314.5	+	2	490	c.291G>A	c.(289-291)tcG>tcA	p.S97S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	97	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TGCAACCGTCGCCCTATCCAC	0.657													G|||	1	0.000199681	0	0	5008	,	,		14509	0		0	False		,,,				2504	0.001				Colon(189;350 2037 11447 13433 38914)												0								G		0,4406		0,0,2203	35	32	33		291	-7.6	0.1	19	dbSNP_120	33	2,8596		0,2,4297	no	coding-synonymous	IRGC	NM_019612.3		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		97/464	44223001	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	0			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.291G>A	19.37:g.44223001G>A			Q05BR8	Silent	SNP	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	p.S97	ENST00000244314.5	37	c.291	CCDS12629.1	19																																																																																			IRGC	-	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	ENSG00000124449		0.657	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	-	0	75	0	G	NM_019612		44223001	1	tier1	rs11555892	no_errors	ENST00000244314	ensembl	human	known	74_37	silent	14.29	90	15	SNP	0.000	A	A	44223001	G	A	44223001	2	1	48	1	0	0	0	0	0	0	0	1	7865	1074	38	1		1	IRGC	19	44223001	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1715468	44223001	14905982	163	11707											
KCNC3	3748	genome.wustl.edu	37	chr19	50826653	50826653	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggcacacagcgccccGaccagcatccccgaccacgt	9	2	10	20	4	0	0	0	0	0	0	1	2	1	0	7	1	2	2	7	1	0	0	rs200349179		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:50826653G>A	ENST00000477616.1	-	2	1851	c.1557C>T	c.(1555-1557)gtC>gtT	p.V519V	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Silent_p.V519V	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	519					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	ACAGCGCCCCGACCAGCATCC	0.597																																					Melanoma(91;1496 2324 50908)												0								G		0,4406		0,0,2203	83	84	84		1557	-6.5	0.9	19		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KCNC3	NM_004977.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		519/758	50826653	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1557C>T	19.37:g.50826653G>A				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.V519	ENST00000477616.1	37	c.1557	CCDS12793.1	19																																																																																			KCNC3	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000131398		0.597	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	-	0	61	0	G	NM_004977		50826653	-1	tier1	rs200349179	no_errors	ENST00000477616	ensembl	human	known	74_37	silent	25.00	51	17	SNP	0.943	A	A	50826653	G	A	50826653	2	1	48	1	0	0	0	0	0	0	0	1	8043	1045	37	1		1	KCNC3	19	50826653	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	6603652	50826653	8302330	164	11708											
POLD1	5424	genome.wustl.edu	37	chr19	50912814	50912814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggagacagaccccctccGgcgccaggtcctggatggac	9	4	13	15	2	0	2	0	0	0	2	2	5	2	4	5	5	0	0	5	5	1	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:50912814G>A	ENST00000440232.2	+	17	2098	c.2045G>A	c.(2044-2046)cGg>cAg	p.R682Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R682Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R708Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	682					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GACCCCCTCCGGCGCCAGGTC	0.667								DNA polymerases (catalytic subunits)																																									0													55	63	60					19																	50912814		2203	4299	6502	SO:0001583	missense	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2045G>A	19.37:g.50912814G>A	ENSP00000406046:p.Arg682Gln		Q8NER3|Q96H98	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.R682Q	ENST00000440232.2	37	c.2045	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	G	18.69	3.678519	0.68042	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.15952	2.38	4.38	4.38	0.52667	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.065701	0.64402	D	0.000014	T	0.14700	0.0355	L	0.46157	1.445	0.40437	D	0.980004	B;B	0.30686	0.29;0.15	B;B	0.29862	0.108;0.041	T	0.05419	-1.0886	10	0.56958	D	0.05	-25.082	7.1744	0.25736	0.1968:0.0:0.8032:0.0	.	708;682	E7EVW0;P28340	.;DPOD1_HUMAN	Q	682;683	ENSP00000406046:R682Q	ENSP00000366129:R683Q	R	+	2	0	POLD1	55604626	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.329000	0.59260	2.190000	0.69967	0.561000	0.74099	CGG	POLD1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000062822		0.667	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	-	0	43	0	G			50912814	1	tier1	-	no_errors	ENST00000440232	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	A	A	50912814	G	A	50912814	3	1	48	1	0	0	0	0	1	0	0	0	12229	1116	39	1	2107	1	POLD1	19	50912814	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	86161	50912814	8216169	165	11709											
ZNF528	84436	genome.wustl.edu	37	chr19	52919182	52919182	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatgtgaagaatgtggCaaagcattttcagtgcgttc	13	12	10	6	1	1	2	1	1	0	1	2	2	1	2	0	1	3	3	0	1	5	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:52919182C>T	ENST00000360465.3	+	7	1503	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAGAATGTGGCAAAGCATTTT	0.408																																																	0													74	72	72					19																	52919182		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1077C>T	19.37:g.52919182C>T			B3KPN4|Q86T88|Q96JK0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G359	ENST00000360465.3	37	c.1077	CCDS33091.1	19																																																																																			ZNF528	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167555		0.408	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1		0	25	0	C	NM_032423		52919182	1			no_errors	ENST00000360465	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.885	T	T	52919182	C	T	52919182	2	4	48	1	0	0	0	0	0	0	0	1	18017	697	25	3		3	ZNF528	19	52919182	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	2006368	52919182	6209801	166	11710											
TTYH1	57348	genome.wustl.edu	37	chr19	54942051	54942051	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctgctgggcctggagCgagaagctgtgcctcagttc	6	8	14	13	1	1	1	1	0	0	1	2	3	1	2	3	2	5	4	3	2	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:54942051C>T	ENST00000376530.3	+	9	1103	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_Nonsense_Mutation_p.R334*|TTYH1_ENST00000376531.3_Nonsense_Mutation_p.R334*|TTYH1_ENST00000391739.3_Missense_Mutation_p.A364V|TTYH1_ENST00000489425.1_3'UTR	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	334					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GGGCCTGGAGCGAGAAGCTGT	0.662																																																	0													40	38	39					19																	54942051		2203	4300	6503	SO:0001587	stop_gained	0			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"tweety (Drosophila) homolog 1", "tweety homolog 1 (Drosophila)"			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1000C>T	19.37:g.54942051C>T	ENSP00000365713:p.Arg334*		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Nonsense_Mutation	SNP	pfam_Tweety	p.R334*	ENST00000376530.3	37	c.1000	CCDS12893.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.486322|4.486322	0.84854|0.84854	.|.	.|.	ENSG00000167614|ENSG00000167614	ENST00000391739|ENST00000301194;ENST00000376530;ENST00000376531	T|.	0.24538|.	1.85|.	4.16|4.16	1.95|1.95	0.26073|0.26073	.|.	.|0.064020	.|0.64402	.|D	.|0.000013	T|.	0.14787|.	0.0357|.	.|.	.|.	.|.	0.22389|0.22389	N|N	0.999146|0.999146	P|.	0.36438|.	0.553|.	B|.	0.28305|.	0.088|.	T|.	0.33214|.	-0.9877|.	8|.	0.48119|0.02654	T|T	0.1|1	-4.5071|-4.5071	11.9336|11.9336	0.52860|0.52860	0.4671:0.5329:0.0:0.0|0.4671:0.5329:0.0:0.0	.|.	364|.	B7Z1H9|.	.|.	V|X	364|334	ENSP00000375619:A364V|.	ENSP00000375619:A364V|ENSP00000301194:R334X	A|R	+|+	2|1	0|2	TTYH1|TTYH1	59633863|59633863	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.418000|0.418000	0.31294|0.31294	0.942000|0.942000	0.29017|0.29017	-0.012000|-0.012000	0.14223|0.14223	-2.014000|-2.014000	0.00435|0.00435	GCG|CGA	TTYH1	-	pfam_Tweety	ENSG00000167614		0.662	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	-	0	83	0	C			54942051	1	tier1	-	no_errors	ENST00000376531	ensembl	human	known	74_37	nonsense	23.58	81	25	SNP	0.999	T	T	54942051	C	T	54942051	4	4	48	1	0	0	0	0	0	1	0	0	16788	760	27	1	1034	1	TTYH1	19	54942051	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	2022869	54942051	4186932	167	11711											
FIZ1	84922	genome.wustl.edu	37	chr19	56104860	56104860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagcagacggagcagggCgcactcaaggcgggcaggcc	9	3	17	12	3	1	1	1	0	0	1	1	2	1	2	1	5	3	5	1	5	1	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:56104860C>T	ENST00000221665.3	-	3	536	c.447G>A	c.(445-447)gcG>gcA	p.A149A	FIZ1_ENST00000592585.1_3'UTR	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	149					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGGAGCAGGGCGCACTCAAGG	0.756																																																	0													5	8	7					19																	56104860		1805	3420	5225	SO:0001819	synonymous_variant	0			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"Zinc fingers, C2H2-type"	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.447G>A	19.37:g.56104860C>T			A2RU72|Q6ZMJ7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A149	ENST00000221665.3	37	c.447	CCDS12928.1	19																																																																																			FIZ1	-	NULL	ENSG00000179943		0.756	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIZ1	HGNC	protein_coding	OTTHUMT00000453350.1	-	0	47	0	C	NM_032836		56104860	-1	tier1	-	no_errors	ENST00000221665	ensembl	human	known	74_37	silent	23.64	42	13	SNP	0.071	T	T	56104860	C	T	56104860	2	4	48	1	0	0	0	0	0	0	0	1	5922	755	27	1		1	FIZ1	19	56104860	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	1162809	56104860	3024123	168	11712											
ZNF835	90485	genome.wustl.edu	37	chr19	57175634	57175634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggctgaagagcgcgccGcagtcctggcacgtgtaggg	6	7	16	12	4	1	2	0	1	1	1	2	2	2	2	2	3	1	4	2	3	2	1			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:57175634G>A	ENST00000537055.2	-	2	1164	c.933C>T	c.(931-933)tgC>tgT	p.C311C		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGAGCGCGCCGCAGTCCTGGC	0.711																																																	0													17	17	17					19																	57175634		2197	4297	6494	SO:0001819	synonymous_variant	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.933C>T	19.37:g.57175634G>A			B7Z5Y0|G3V1S0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C311	ENST00000537055.2	37	c.933	CCDS56105.1	19																																																																																			ZNF835	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.711	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	-	0	76	0	G	NM_001005850		57175634	-1	tier1	-	no_errors	ENST00000537055	ensembl	human	known	74_37	silent	17.43	90	19	SNP	0.935	A	A	57175634	G	A	57175634	2	1	48	1	0	0	0	0	0	0	0	1	18234	1079	38	1		1	ZNF835	19	57175634	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1070774	57175634	1953349	169	11713											
ZNF132	7691	genome.wustl.edu	37	chr19	58945571	58945571	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgagagcagagcttcGgctgaaggatttaccacatt	12	10	11	8	1	0	4	0	3	0	2	1	6	0	5	1	2	3	3	1	2	3	4	rs370706847		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr19:58945571G>A	ENST00000254166.3	-	3	1640	c.1240C>T	c.(1240-1242)Cga>Tga	p.R414*		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCAGAGCTTCGGCTGAAGGAT	0.458																																																	0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	116	110	112		1240	0.1	0	19		112	0,8600		0,0,4300	no	stop-gained	ZNF132	NM_003433.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		414/707	58945571	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"Zinc fingers, C2H2-type", "-"	12916	protein-coding gene	gene with protein product		604074	"zinc finger protein 132 (clone pHZ-12)"			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.1240C>T	19.37:g.58945571G>A	ENSP00000254166:p.Arg414*		Q32MI9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R414*	ENST00000254166.3	37	c.1240	CCDS12980.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.325801	0.97476	2.27E-4	0.0	ENSG00000131849	ENST00000254166;ENST00000391695	.	.	.	3.63	0.0762	0.14402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	3.7741	0.08653	0.1947:0.0:0.4751:0.3302	.	.	.	.	X	414;241	.	ENSP00000254166:R414X	R	-	1	2	ZNF132	63637383	0.000000	0.05858	0.001000	0.08648	0.619000	0.37552	-1.226000	0.02953	-0.115000	0.11915	-0.140000	0.14226	CGA	ZNF132	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131849		0.458	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	HGNC	protein_coding	OTTHUMT00000467035.1	-	0	59	0	G	NM_003433		58945571	-1	tier1	-	no_errors	ENST00000254166	ensembl	human	known	74_37	nonsense	23.08	50	15	SNP	0.001	A	A	58945571	G	A	58945571	4	1	48	1	0	0	0	0	0	1	0	0	17770	1124	39	1	884	1	ZNF132	19	58945571	Nonsense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	1769937	58945571	183412	170	11714											
ANGPT4	51378	genome.wustl.edu	37	chr20	865893	865893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagcgtgttcagcagcttCgccttcttgctgaggatgct	5	13	11	12	2	3	1	2	1	1	0	4	2	3	2	1	1	5	5	1	1	0	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr20:865893C>T	ENST00000381922.3	-	4	765	c.663G>A	c.(661-663)gcG>gcA	p.A221A	ANGPT4_ENST00000546022.1_Silent_p.A221A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	221					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCAGCAGCTTCGCCTTCTTGC	0.682																																					Pancreas(181;481 2077 3259 31286 49856)												0													22	18	19					20																	865893		2199	4294	6493	SO:0001819	synonymous_variant	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.663G>A	20.37:g.865893C>T			B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.A221	ENST00000381922.3	37	c.663	CCDS13009.1	20																																																																																			ANGPT4	-	NULL	ENSG00000101280		0.682	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	-	0	20	0	C	NM_015985		865893	-1	tier1	-	no_errors	ENST00000381922	ensembl	human	known	74_37	silent	20.00	24	6	SNP	0.770	T	T	865893	C	T	865893	2	4	48	1	0	0	0	0	0	0	0	1	612	871	31	1		1	ANGPT4	20	865893	Silent	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		865893	62159627	171	11715											
SIRPB2	284759	genome.wustl.edu	37	chr20	1460678	1460678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgggctgtagcacctGccagtcattcctgctgctct	4	11	10	16	1	2	0	1	0	1	0	4	0	3	0	4	1	4	5	4	1	1	2			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr20:1460678G>T	ENST00000359801.3	-	2	154	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	SIRPB2_ENST00000537284.1_5'UTR|SIRPB2_ENST00000608747.1_5'UTR|SIRPB2_ENST00000444444.2_Missense_Mutation_p.Q40K	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	33	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGTAGCACCTGCCAGTCATTC	0.527																																																	0													42	40	41					20																	1460678		1568	3580	5148	SO:0001583	missense	0			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.118C>A	20.37:g.1460678G>T	ENSP00000352849:p.Gln40Lys		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q40K	ENST00000359801.3	37	c.118	CCDS42849.1	20	.	.	.	.	.	.	.	.	.	.	G	5.366	0.252793	0.10185	.	.	ENSG00000196209	ENST00000359801;ENST00000444444;ENST00000381630;ENST00000381628	T;T;T	0.65732	-0.17;4.29;4.27	4.68	3.7	0.42460	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.545035	0.16626	N	0.206270	T	0.67002	0.2847	L	0.45137	1.4	0.58432	D	0.999995	P;D	0.53885	0.888;0.963	B;D	0.71414	0.3;0.973	T	0.59958	-0.7356	10	0.10111	T	0.7	-10.2843	10.7667	0.46297	0.0:0.1925:0.8075:0.0	.	40;40	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	K	40	ENSP00000352849:Q40K;ENSP00000402438:Q40K;ENSP00000371043:Q40K	ENSP00000352849:Q40K	Q	-	1	0	SIRPB2	1408678	0.990000	0.36364	0.133000	0.22050	0.005000	0.04900	3.310000	0.51911	1.288000	0.44600	0.655000	0.94253	CAG	SIRPB2	-	pfam_Ig_V-set,pfscan_Ig-like_dom	ENSG00000196209		0.527	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	HGNC	protein_coding	OTTHUMT00000077544.1	-	0	38	0	G	NM_178459		1460678	-1	tier1	-	no_errors	ENST00000359801	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.535	T	T	1460678	G	T	1460678	3	4	48	1	0	0	0	0	1	0	0	0	14379	1328	46	3	926	3	SIRPB2	20	1460678	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	594785	1460678	61564842	172	11716											
KIAA1755	85449	genome.wustl.edu	37	chr20	36841848	36841848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccctcttcgttctgggcGcgctgagtgagcagctggag	5	9	14	13	3	2	2	0	2	2	0	3	3	2	3	2	2	2	4	2	2	0	2	rs375138370		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr20:36841848G>A	ENST00000279024.4	-	14	3470	c.3199C>T	c.(3199-3201)Cgc>Tgc	p.R1067C		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1067										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CGTTCTGGGCGCGCTGAGTGA	0.622																																																	0								G	CYS/ARG	0,4406		0,0,2203	35	28	30		3199	-0.7	0	20		30	1,8599		0,1,4299	no	missense	KIAA1755	NM_001029864.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1067/1201	36841848	1,13005	2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3199C>T	20.37:g.36841848G>A	ENSP00000279024:p.Arg1067Cys		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.R1067C	ENST00000279024.4	37	c.3199	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322385	0.23994	0.0	1.16E-4	ENSG00000149633	ENST00000279024	T	0.06218	3.33	4.96	-0.66	0.11421	.	1.851070	0.02493	N	0.089661	T	0.04363	0.0120	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	10	0.52906	T	0.07	.	1.328	0.02129	0.2579:0.1468:0.4442:0.1511	.	1067	Q5JYT7	K1755_HUMAN	C	1067	ENSP00000279024:R1067C	ENSP00000279024:R1067C	R	-	1	0	KIAA1755	36275262	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.036000	0.13819	0.044000	0.15775	-0.224000	0.12420	CGC	KIAA1755	-	NULL	ENSG00000149633		0.622	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0	79	0	G	NM_001029864		36841848	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	20.69	67	18	SNP	0.000	A	A	36841848	G	A	36841848	3	1	48	1	0	0	0	0	1	0	0	0	8284	1087	38	1	407	1	KIAA1755	20	36841848	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	35381170	36841848	26183672	173	11717											
TOX2	84969	genome.wustl.edu	37	chr20	42695425	42695425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcctgctcacctggccCatccaaccccaccagcagcg	8	5	9	19	1	1	0	1	0	0	0	3	1	3	1	7	2	4	2	7	2	1	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr20:42695425C>T	ENST00000358131.5	+	7	1566	c.1358C>T	c.(1357-1359)cCa>cTa	p.P453L	TOX2_ENST00000341197.4_Missense_Mutation_p.P471L|TOX2_ENST00000372999.1_Missense_Mutation_p.P429L|TOX2_ENST00000423191.2_Missense_Mutation_p.P429L|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	453	Pro-rich.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCACCTGGCCCATCCAACCCC	0.627																																																	0													131	123	126					20																	42695425		2203	4300	6503	SO:0001583	missense	0			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"granulosa cell HMG box 1"	611163	"chromosome 20 open reading frame 100"	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1358C>T	20.37:g.42695425C>T	ENSP00000350849:p.Pro453Leu		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P471L	ENST00000358131.5	37	c.1412	CCDS42875.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.513|9.513	1.106209|1.106209	0.20632|0.20632	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000372992;ENST00000413823|ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.|T;T;T;T;T	.|0.15256	.|2.66;2.67;2.67;2.5;2.44	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.477843	.|0.19660	.|N	.|0.108991	T|T	0.15782|0.15782	0.0380|0.0380	L|L	0.29908|0.29908	0.895|0.895	0.38034|0.38034	D|D	0.935257|0.935257	.|B;B;B;B	.|0.22480	.|0.07;0.002;0.001;0.001	.|B;B;B;B	.|0.13407	.|0.009;0.004;0.002;0.002	T|T	0.04454|0.04454	-1.0950|-1.0950	6|10	0.87932|0.48119	D|T	0|0.1	.|.	17.1679|17.1679	0.86821|0.86821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|349;471;453;429	.|B4DQV8;G3XAC7;Q96NM4;E1P5X0	.|.;.;TOX2_HUMAN;.	Y|L	78|471;429;429;453;349	.|ENSP00000344724:P471L;ENSP00000390278:P429L;ENSP00000362090:P429L;ENSP00000350849:P453L;ENSP00000396777:P349L	ENSP00000362083:H78Y|ENSP00000344724:P471L	H|P	+|+	1|2	0|0	TOX2|TOX2	42128839|42128839	0.999000|0.999000	0.42202|0.42202	0.961000|0.961000	0.40146|0.40146	0.072000|0.072000	0.16883|0.16883	5.286000|5.286000	0.65639|0.65639	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CAT|CCA	TOX2	-	NULL	ENSG00000124191		0.627	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	-	0	60	0	C			42695425	1	tier1	-	no_errors	ENST00000341197	ensembl	human	known	74_37	missense	23.19	53	16	SNP	0.927	T	T	42695425	C	T	42695425	3	4	48	1	0	0	0	0	1	0	0	0	16426	594	21	3	1572	3	TOX2	20	42695425	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	5853577	42695425	20330095	174	11718											
PKDREJ	10343	genome.wustl.edu	37	chr22	46653522	46653522	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgctttcttgaagttCtttgagcctcagtgtggaat	8	16	9	8	0	3	2	1	2	2	0	3	3	3	3	2	1	2	2	2	1	3	5			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chr22:46653522C>A	ENST00000253255.5	-	1	5697	c.5698G>T	c.(5698-5700)Gaa>Taa	p.E1900*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1900					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTTGAAGTTCTTTGAGCCTC	0.388																																																	0													105	113	110					22																	46653522		2203	4300	6503	SO:0001587	stop_gained	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5698G>T	22.37:g.46653522C>A	ENSP00000253255:p.Glu1900*		B1AJY3|O95850	Nonsense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.E1900*	ENST00000253255.5	37	c.5698	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	42	9.235987	0.99110	.	.	ENSG00000130943	ENST00000253255	.	.	.	5.55	3.47	0.39725	.	0.572720	0.16487	N	0.212262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-5.695	5.3888	0.16231	0.1604:0.6712:0.0:0.1684	.	.	.	.	X	1900	.	ENSP00000253255:E1900X	E	-	1	0	PKDREJ	45032186	0.000000	0.05858	0.001000	0.08648	0.251000	0.25915	0.228000	0.17814	0.719000	0.32188	0.455000	0.32223	GAA	PKDREJ	-	pfam_PKD1_2_channel	ENSG00000130943		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	-	0	39	0	C	NM_006071		46653522	-1	tier1	-	no_errors	ENST00000253255	ensembl	human	known	74_37	nonsense	9.68	56	6	SNP	0.000	A	A	46653522	C	A	46653522	4	1	48	1	0	0	0	0	0	1	0	0	12009	922	32	3	1067	3	PKDREJ	22	46653522	Nonsense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09		46653522	4651044	175	11719											
RPS6KA6	27330	genome.wustl.edu	37	chrX	83352797	83352797	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacccagccaacattgtgtaAaaaaggactcctaaactcca	16	8	5	12	0	0	0	0	0	0	0	2	1	2	1	4	1	4	1	4	1	7	4			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chrX:83352797A>C	ENST00000262752.2	-	19	1843	c.1836T>G	c.(1834-1836)ttT>ttG	p.F612L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.F612L|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	612	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACATTGTGTAAAAAAGGACTC	0.303																																																	0													128	124	125					X																	83352797		2203	4293	6496	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1836T>G	X.37:g.83352797A>C	ENSP00000262752:p.Phe612Leu		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.F612L	ENST00000262752.2	37	c.1836	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	A	3.259	-0.151532	0.06585	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.58652	0.32;0.32	5.46	2.89	0.33648	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.165634	0.48767	N	0.000169	T	0.17408	0.0418	N	0.00275	-1.725	0.26309	N	0.977854	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34229	-0.9837	10	0.02654	T	1	.	11.4405	0.50094	0.5546:0.4454:0.0:0.0	.	612;612	B7ZL90;Q9UK32	.;KS6A6_HUMAN	L	612	ENSP00000262752:F612L;ENSP00000440830:F612L	ENSP00000262752:F612L	F	-	3	2	RPS6KA6	83239453	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.644000	0.24766	0.698000	0.31739	0.486000	0.48141	TTT	RPS6KA6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000072133		0.303	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	-	0	36	0	A	NM_014496		83352797	-1	tier1	-	no_errors	ENST00000262752	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.999	C	C	83352797	A	C	83352797	3	2	48	1	0	0	0	0	1	0	0	0	13700	11	1	4	417	4	RPS6KA6	23	83352797	Missense_Mutation	SNP	A	TCGA-L5-A43C-01A-11D-A247-09		83352797	71917763	176	11720											
PCDH11X	27328	genome.wustl.edu	37	chrX	91134272	91134272	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtacacaccagaccGgtaggtatccaagtttctaa	11	10	9	11	2	1	1	0	0	1	1	3	1	3	1	4	2	1	4	4	2	5	5	rs138111592	byFrequency	TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chrX:91134272G>A	ENST00000373094.1	+	2	3878	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P	PCDH11X_ENST00000373088.1_Splice_Site_p.P1011P|PCDH11X_ENST00000504220.2_Splice_Site_p.P1011P|PCDH11X_ENST00000373097.1_Splice_Site_p.P1011P|PCDH11X_ENST00000361724.1_Silent_p.P1011P|PCDH11X_ENST00000298274.8_Splice_Site_p.P1011P|PCDH11X_ENST00000361655.2_Splice_Site_p.P1011P|PCDH11X_ENST00000406881.1_Splice_Site_p.P1011P|PCDH11X_ENST00000395337.2_Splice_Site_p.P1011P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1011					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACACCAGACCGGTAGGTATCC	0.403													G|||	3	0.000794702	0.0023	0	3775	,	,		14242	0		0	False		,,,				2504	0				NSCLC(38;925 1092 2571 38200 45895)												0								G	,,,,,,,	8,3827		0,5,3,1627,568	107	92	97		3033,3033,3033,3033,3033,3033,3033,3033	4.3	1	X	dbSNP_134	97	0,6728		0,0,0,2428,1872	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	PCDH11X	NM_001168360.1,NM_001168361.1,NM_001168362.1,NM_001168363.1,NM_014522.1,NM_032967.2,NM_032968.3,NM_032969.3	,,,,,,,	0,5,3,4055,2440	AA,AG,A,GG,G		0.0,0.2086,0.0757	,,,,,,,	1011/1340,1011/1066,1011/1311,1011/1330,1011/1022,1011/1026,1011/1348,1011/1338	91134272	8,10555	2203	4300	6503	SO:0001630	splice_region_variant	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3033+1G>A	X.37:g.91134272G>A			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1011	ENST00000373094.1	37	c.3033	CCDS14461.1	X																																																																																			PCDH11X	-	NULL	ENSG00000102290		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	29	0	G	NM_032969	Silent	91134272	1	tier1	rs138111592	no_errors	ENST00000373094	ensembl	human	known	74_37	silent	35.71	36	20	SNP	1.000	A	A	91134272	G	A	91134272	5	1	48	1	0	0	0	0	0	0	1	0	11547	1130	39	1	3039	1	PCDH11X	23	91134272	Splice_Site	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	7781475	91134272	64136288	177	11721											
TCEAL4	79921	genome.wustl.edu	37	chrX	102842229	102842229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggccccacgaagggacaTtgaagacattccttatgtgt	11	9	11	10	1	0	2	0	1	0	1	1	4	1	3	3	2	0	0	3	2	3	3	rs201993261		TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chrX:102842229T>C	ENST00000472745.1	+	3	1178	c.626T>C	c.(625-627)aTt>aCt	p.I209T	TCEAL4_ENST00000494801.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000372629.4_Missense_Mutation_p.I352T|TCEAL4_ENST00000468024.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000472484.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000415568.2_Missense_Mutation_p.I209T			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I352T(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CGAAGGGACATTGAAGACATT	0.498																																																	1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	0			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.626T>C	X.37:g.102842229T>C	ENSP00000424314:p.Ile209Thr		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.I352T	ENST00000472745.1	37	c.1055	CCDS14510.2	X	.	.	.	.	.	.	.	.	.	.	T	9.922	1.212528	0.22289	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801	T;T;T;T;T;T	0.26660	1.72;1.82;1.82;1.82;1.82;1.82	3.73	-0.255	0.12988	.	1.237680	0.05849	N	0.620821	T	0.11410	0.0278	N	0.08118	0	0.21499	N	0.999669	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	10	0.45353	T	0.12	.	0.6663	0.00851	0.2069:0.1222:0.2101:0.4607	.	209	Q96EI5	TCAL4_HUMAN	T	352;209;209;209;180;209;209	ENSP00000361712:I352T;ENSP00000421857:I209T;ENSP00000421156:I209T;ENSP00000415564:I209T;ENSP00000424314:I209T;ENSP00000427494:I209T	ENSP00000361712:I352T	I	+	2	0	TCEAL4	102728885	0.901000	0.30685	0.921000	0.36526	0.996000	0.88848	0.097000	0.15168	-0.120000	0.11809	0.425000	0.28330	ATT	TCEAL4	-	NULL	ENSG00000133142		0.498	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCEAL4	HGNC	protein_coding	OTTHUMT00000252339.2		0	16	0	T	NM_024863		102842229	1			no_errors	ENST00000372629	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.919	C	C	102842229	T	C	102842229	3	2	48	1	0	0	0	0	1	0	0	0	15720	1493	52	4	628	4	TCEAL4	23	102842229	Missense_Mutation	SNP	T	TCGA-L5-A43C-01A-11D-A247-09	11707957	102842229	52428331	178	11722											
ATP11C	286410	genome.wustl.edu	37	chrX	138856967	138856967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatggtttttgtggttaGttctaagagctcagtgttgg	7	18	12	4	0	3	1	2	0	1	1	3	1	3	1	0	3	1	5	0	3	3	7			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chrX:138856967G>A	ENST00000327569.3	-	19	2205	c.2107C>T	c.(2107-2109)Cta>Tta	p.L703L	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Silent_p.L700L|ATP11C_ENST00000359686.2_Silent_p.L703L|ATP11C_ENST00000361648.2_Silent_p.L703L|ATP11C_ENST00000370543.1_Silent_p.L703L	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	703					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTGTGGTTAGTTCTAAGAGC	0.423																																																	0													177	153	161					X																	138856967		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.2107C>T	X.37:g.138856967G>A			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L703	ENST00000327569.3	37	c.2107	CCDS14668.1	X																																																																																			ATP11C	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000101974		0.423	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	-	0	49	0	G	NM_173694		138856967	-1	tier1	-	no_errors	ENST00000327569	ensembl	human	known	74_37	silent	33.33	30	15	SNP	1.000	A	A	138856967	G	A	138856967	2	1	48	1	0	0	0	0	0	0	0	1	1122	1020	36	3		3	ATP11C	23	138856967	Silent	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	36014738	138856967	16413593	179	11723											
SPANXN3	139067	genome.wustl.edu	37	chrX	142605168	142605168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttttttgttattggattCacaggggctcttcgtcttct	5	21	8	7	1	4	0	1	0	3	0	5	1	4	1	0	3	0	2	0	3	1	9			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chrX:142605168C>T	ENST00000370503.2	-	1	135	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	18										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTATTGGATTCACAGGGGCTC	0.463																																																	0													248	216	227					X																	142605168		2203	4300	6503	SO:0001583	missense	0				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 8"	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.52G>A	X.37:g.142605168C>T	ENSP00000359534:p.Glu18Lys		Q0ZNK4	Missense_Mutation	SNP	pfam_SPANX_prot	p.E18K	ENST00000370503.2	37	c.52	CCDS35418.1	X	.	.	.	.	.	.	.	.	.	.	c	5.603	0.296067	0.10622	.	.	ENSG00000189252	ENST00000370503	T	0.09350	2.99	2.03	-4.05	0.03998	.	.	.	.	.	T	0.10121	0.0248	M	0.70275	2.135	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.38156	-0.9674	9	0.48119	T	0.1	.	1.2874	0.02053	0.1335:0.3407:0.2039:0.3219	.	18	Q5MJ09	SPXN3_HUMAN	K	18	ENSP00000359534:E18K	ENSP00000359534:E18K	E	-	1	0	SPANXN3	142432834	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.681000	0.05191	-1.569000	0.01668	-1.856000	0.00563	GAA	SPANXN3	-	pfam_SPANX_prot	ENSG00000189252		0.463	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN3	HGNC	protein_coding	OTTHUMT00000058620.2	-	0	49	0	C	NM_001009609		142605168	-1	tier1	-	no_errors	ENST00000370503	ensembl	human	known	74_37	missense	45.21	40	33	SNP	0.000	T	T	142605168	C	T	142605168	3	4	48	1	0	0	0	0	1	0	0	0	15039	835	29	3	381	3	SPANXN3	23	142605168	Missense_Mutation	SNP	C	TCGA-L5-A43C-01A-11D-A247-09	3748201	142605168	12665392	180	11724											
PASD1	139135	genome.wustl.edu	37	chrX	150840900	150840900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagagccagaggaggaGcagcagaagcagcagctgca	16	1	15	9	0	0	4	0	0	0	4	0	6	0	6	1	2	7	6	1	2	2	0			TCGA-L5-A43C-01A-11D-A247-09	TCGA-L5-A43C-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	eb19b408-d32e-4659-80ad-9fc2efa25260	455d8943-a709-4328-ac50-72df33b3ab0e	g.chrX:150840900G>T	ENST00000370357.4	+	14	1928	c.1683G>T	c.(1681-1683)gaG>gaT	p.E561D		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	561						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					cagaggaggagcagcagaagc	0.537																																																	0													88	70	76					X																	150840900		2203	4300	6503	SO:0001583	missense	0			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"cancer/testis antigen 63"					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1683G>T	X.37:g.150840900G>T	ENSP00000359382:p.Glu561Asp		Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	superfamily_PAS,smart_PAS,pfscan_PAS	p.E561D	ENST00000370357.4	37	c.1683	CCDS35431.1	X	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.305309	0.01353	.	.	ENSG00000166049	ENST00000370357	T	0.68025	-0.3	0.569	-1.14	0.09741	.	.	.	.	.	T	0.39436	0.1078	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.12156	0.007	T	0.16188	-1.0411	8	0.54805	T	0.06	.	.	.	.	.	561	Q8IV76	PASD1_HUMAN	D	561	ENSP00000359382:E561D	ENSP00000359382:E561D	E	+	3	2	PASD1	150591556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.700000	0.05081	-0.729000	0.04875	-0.796000	0.03273	GAG	PASD1	-	NULL	ENSG00000166049		0.537	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PASD1	HGNC	protein_coding	OTTHUMT00000060879.2		0	8	0	G	NM_173493		150840900	1			no_errors	ENST00000370357	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.000	T	T	150840900	G	T	150840900	3	4	48	1	0	0	0	0	1	0	0	0	11510	962	34	3	1733	3	PASD1	23	150840900	Missense_Mutation	SNP	G	TCGA-L5-A43C-01A-11D-A247-09	8235732	150840900	4429660	181	11725											
NMNAT1	64802	genome.wustl.edu	37	chr1	10035719	10035719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaaaggactcattcCtgcctatcaccgggtcatca	13	8	8	12	1	4	2	4	0	0	2	5	3	5	3	3	2	1	0	3	2	4	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:10035719C>T	ENST00000377205.1	+	3	329	c.185C>T	c.(184-186)cCt>cTt	p.P62L	NMNAT1_ENST00000403197.1_Missense_Mutation_p.P62L	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	62					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		GGACTCATTCCTGCCTATCAC	0.433																																																	0													118	105	109					1																	10035719		2203	4300	6503	SO:0001583	missense	0			AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"nicotinamide nucleotide adenylyltransferase", "Leber congenital amaurosis 9", "Leber's congenital amaurosis 9"	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.185C>T	1.37:g.10035719C>T	ENSP00000366410:p.Pro62Leu		B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase	p.P62L	ENST00000377205.1	37	c.185	CCDS108.1	1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114038	0.37339	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.98075	-4.7;-4.7	4.75	3.75	0.43078	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.397866	0.25964	N	0.027164	D	0.95557	0.8556	M	0.67569	2.06	0.40338	D	0.979007	P	0.37594	0.601	B	0.36719	0.231	D	0.94254	0.7496	10	0.45353	T	0.12	-10.9235	7.6081	0.28113	0.1342:0.5458:0.32:0.0	.	62	Q9HAN9	NMNA1_HUMAN	L	62	ENSP00000385131:P62L;ENSP00000366410:P62L	ENSP00000366410:P62L	P	+	2	0	NMNAT1	9958306	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	4.311000	0.59147	2.336000	0.79503	0.643000	0.83706	CCT	NMNAT1	-	pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase	ENSG00000173614		0.433	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT1	HGNC	protein_coding	OTTHUMT00000005029.1	-	0	76	0	C			10035719	1	tier1	-	no_errors	ENST00000377205	ensembl	human	known	74_37	missense	60.94	25	39	SNP	1.000	T	T	10035719	C	T	10035719	3	4	49	1	0	0	0	0	1	0	0	0	10537	681	24	3	191	3	NMNAT1	1	10035719	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		10035719	239214902	1	11726											
CSMD2	114784	genome.wustl.edu	37	chr1	34401382	34401382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcaggaaggcagggggaAgtcccacgtggcgctgttct	7	8	16	10	2	2	0	0	0	2	0	3	2	3	2	1	5	1	4	1	5	2	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:34401382A>C	ENST00000373381.4	-	4	867	c.691T>G	c.(691-693)Ttc>Gtc	p.F231V		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	191	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCAGGGGGAAGTCCCACGTG	0.632																																																	0													58	54	55					1																	34401382		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.691T>G	1.37:g.34401382A>C	ENSP00000362479:p.Phe231Val		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F231V	ENST00000373381.4	37	c.691		1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380464	0.61845	.	.	ENSG00000121904	ENST00000373381	T	0.23754	1.89	5.41	5.41	0.78517	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.35828	0.0945	L	0.56396	1.775	0.80722	D	1	B;P	0.52316	0.24;0.952	B;P	0.51945	0.309;0.685	T	0.07654	-1.0761	10	0.17369	T	0.5	.	14.6327	0.68668	1.0:0.0:0.0:0.0	.	191;231	Q7Z408;E7EUA6	CSMD2_HUMAN;.	V	231	ENSP00000362479:F231V	ENSP00000241312:F191V	F	-	1	0	CSMD2	34173969	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.235000	0.95353	2.038000	0.60285	0.460000	0.39030	TTC	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.632	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	38	0	A	NM_052896		34401382	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	C	C	34401382	A	C	34401382	3	2	49	1	0	0	0	0	1	0	0	0	3954	72	3	4	10156	4	CSMD2	1	34401382	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	24365663	34401382	214849239	2	11727											
CSF3R	1441	genome.wustl.edu	37	chr1	36932232	36932232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cataaaggacctgatcgctgGtgccagactgggattggggc	9	8	15	9	1	0	2	0	1	0	1	1	4	0	4	2	5	1	1	2	5	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:36932232G>T	ENST00000373106.1	-	17	2784	c.2237C>A	c.(2236-2238)aCc>aAc	p.T746N	MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000338937.5_Missense_Mutation_p.P715T|CSF3R_ENST00000373103.1_Missense_Mutation_p.T773N|CSF3R_ENST00000440588.2_Missense_Mutation_p.T773N|CSF3R_ENST00000373104.1_Missense_Mutation_p.T746N|CSF3R_ENST00000418048.2_Missense_Mutation_p.T746N|CSF3R_ENST00000361632.4_Missense_Mutation_p.T746N|CSF3R_ENST00000331941.5_Missense_Mutation_p.T746N|CSF3R_ENST00000487540.2_5'UTR	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	746					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTGATCGCTGGTGCCAGACTG	0.637																																																	0													51	54	53					1																	36932232		2203	4300	6503	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2237C>A	1.37:g.36932232G>T	ENSP00000362198:p.Thr746Asn			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T773N	ENST00000373106.1	37	c.2318	CCDS413.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.297|3.297	-0.143725|-0.143725	0.06627|0.06627	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465;ENST00000338937|ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000440588	T|T;T;T;T;T;T;T	0.36699|0.56275	1.24|0.84;0.6;0.47;0.84;0.6;0.84;0.47	5.81|5.81	1.82|1.82	0.25136|0.25136	.|.	.|1.142640	.|0.06449	.|N	.|0.727458	T|T	0.37265|0.37265	0.0997|0.0997	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	B|B;B;B;B	0.21381|0.17667	0.055|0.006;0.01;0.006;0.023	B|B;B;B;B	0.19148|0.18871	0.024|0.005;0.01;0.005;0.023	T|T	0.29640|0.29640	-1.0005|-1.0005	9|10	0.36615|0.40728	T|T	0.2|0.16	-11.3124|-11.3124	1.6579|1.6579	0.02785|0.02785	0.1564:0.1425:0.4067:0.2944|0.1564:0.1425:0.4067:0.2944	.|.	715|746;773;746;746	E1B6W6|Q1ZYL6;Q99062-3;Q99062;Q99062-4	.|.;.;CSF3R_HUMAN;.	T|N	298;715|746;746;773;746;746;746;773	ENSP00000345013:P715T|ENSP00000362198:T746N;ENSP00000362196:T746N;ENSP00000362195:T773N;ENSP00000355406:T746N;ENSP00000332180:T746N;ENSP00000401588:T746N;ENSP00000397568:T773N	ENSP00000345013:P715T|ENSP00000332180:T746N	P|T	-|-	1|2	0|0	CSF3R|CSF3R	36704819|36704819	0.446000|0.446000	0.25665|0.25665	0.439000|0.439000	0.26833|0.26833	0.029000|0.029000	0.11900|0.11900	1.104000|1.104000	0.31074|0.31074	0.355000|0.355000	0.24131|0.24131	0.655000|0.655000	0.94253|0.94253	CCA|ACC	CSF3R	-	NULL	ENSG00000119535		0.637	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2		0	48	0	G	NM_156039		36932232	-1			no_errors	ENST00000373103	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.139	T	T	36932232	G	T	36932232	3	4	49	1	0	0	0	0	1	0	0	0	3946	1261	44	3	386	3	CSF3R	1	36932232	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	2530850	36932232	212318389	3	11728											
GRIK3	2899	genome.wustl.edu	37	chr1	37271783	37271783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagttcctctgcgtgaCgtactcgatggtggtggact	5	13	14	9	3	1	1	0	1	1	0	3	3	2	2	1	3	3	4	1	3	1	3	rs142411639	byFrequency	TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:37271783C>T	ENST00000373091.3	-	14	2252	c.2236G>A	c.(2236-2238)Gtc>Atc	p.V746I	GRIK3_ENST00000373093.4_Missense_Mutation_p.V746I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	746					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CTCTGCGTGACGTACTCGATG	0.642																																																	0								C	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	195	138	157		2236	-0.2	1	1	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GRIK3	NM_000831.3	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	746/920	37271783	3,13003	2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2236G>A	1.37:g.37271783C>T	ENSP00000362183:p.Val746Ile		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V746I	ENST00000373091.3	37	c.2236	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.338160	0.24253	4.54E-4	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.10763	2.84;2.84	5.31	-0.164	0.13359	Ionotropic glutamate receptor (2);	0.270885	0.34531	N	0.003882	T	0.04003	0.0112	N	0.11341	0.13	0.29126	N	0.879927	B;B	0.15719	0.014;0.014	B;B	0.19946	0.027;0.016	T	0.45556	-0.9253	10	0.02654	T	1	.	8.3483	0.32286	0.0:0.281:0.0:0.719	.	746;746	A9Z1Z8;Q13003	.;GRIK3_HUMAN	I	746	ENSP00000362183:V746I;ENSP00000362185:V746I	ENSP00000362183:V746I	V	-	1	0	GRIK3	37044370	0.992000	0.36948	0.996000	0.52242	0.989000	0.77384	0.782000	0.26788	0.068000	0.16574	0.549000	0.68633	GTC	GRIK3	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000163873		0.642	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	105	0	C	NM_000831		37271783	-1	tier1	rs142411639	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	9.84	55	6	SNP	1.000	T	T	37271783	C	T	37271783	3	4	49	1	0	0	0	0	1	0	0	0	6802	536	19	1	535	1	GRIK3	1	37271783	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	339551	37271783	211978838	4	11729											
GRIK3	2899	genome.wustl.edu	37	chr1	37337907	37337907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcgatggggagctgaCggatcttcaggcggatgttg	8	9	17	7	3	2	2	1	1	1	1	3	6	2	5	0	5	1	2	0	5	0	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:37337907C>T	ENST00000373091.3	-	4	630	c.614G>A	c.(613-615)cGt>cAt	p.R205H	GRIK3_ENST00000373093.4_Missense_Mutation_p.R205H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	205					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGGGAGCTGACGGATCTTCAG	0.577																																																	0													106	89	95					1																	37337907		2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.614G>A	1.37:g.37337907C>T	ENSP00000362183:p.Arg205His		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R205H	ENST00000373091.3	37	c.614	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.372440	0.95923	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.23348	1.91;1.91	5.22	5.22	0.72569	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.70324	-0.4903	10	0.87932	D	0	.	18.7775	0.91916	0.0:1.0:0.0:0.0	.	205;205	A9Z1Z8;Q13003	.;GRIK3_HUMAN	H	205	ENSP00000362183:R205H;ENSP00000362185:R205H	ENSP00000362183:R205H	R	-	2	0	GRIK3	37110494	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.460000	0.83146	0.561000	0.74099	CGT	GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	29	0	C	NM_000831		37337907	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	T	T	37337907	C	T	37337907	3	4	49	1	0	0	0	0	1	0	0	0	6802	536	19	1	2197	1	GRIK3	1	37337907	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	66124	37337907	211912714	5	11730											
HOOK1	51361	genome.wustl.edu	37	chr1	60333961	60333961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagttaaatccagcatcaGctgaaataatgctactaaga	17	9	6	9	0	1	2	1	1	0	1	2	2	2	2	2	0	4	4	2	0	7	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:60333961G>T	ENST00000371208.3	+	20	2142	c.1885G>T	c.(1885-1887)Gct>Tct	p.A629S	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.A587S	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	629					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TCCAGCATCAGCTGAAATAAT	0.279																																																	0													53	60	58					1																	60333961		2203	4299	6502	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1885G>T	1.37:g.60333961G>T	ENSP00000360252:p.Ala629Ser		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin	p.A629S	ENST00000371208.3	37	c.1885	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748595	0.89753	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.17691	2.26;2.26	5.99	5.99	0.97316	.	0.094754	0.64402	D	0.000001	T	0.18087	0.0434	L	0.43152	1.355	0.80722	D	1	P	0.42456	0.78	B	0.40782	0.34	T	0.02766	-1.1113	10	0.07482	T	0.82	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	629	Q9UJC3	HOOK1_HUMAN	S	629;587	ENSP00000360252:A629S;ENSP00000378928:A587S	ENSP00000360252:A629S	A	+	1	0	HOOK1	60106549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.772000	0.68889	2.840000	0.97914	0.655000	0.94253	GCT	HOOK1	-	pfam_Hook-related_fam	ENSG00000134709		0.279	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	-	0	50	0	G	NM_015888		60333961	1	tier1	-	no_errors	ENST00000371208	ensembl	human	known	74_37	missense	53.66	19	22	SNP	1.000	T	T	60333961	G	T	60333961	3	4	49	1	0	0	0	0	1	0	0	0	7309	971	34	3	1963	3	HOOK1	1	60333961	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	22996054	60333961	188916660	6	11731											
LRRC7	57554	genome.wustl.edu	37	chr1	70486774	70486774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttgcctttgaatttgaaGacaaaaaagaagatgacgaa	17	10	9	5	1	0	6	0	3	0	3	0	7	0	6	1	0	1	1	1	0	7	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:70486774G>C	ENST00000035383.5	+	14	1423	c.1393G>C	c.(1393-1395)Gac>Cac	p.D465H	LRRC7_ENST00000310961.5_Missense_Mutation_p.D470H|RP11-181B18.1_ENST00000425754.1_RNA|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	465						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D465H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGAATTTGAAGACAAAAAAGA	0.388																																																	1	Substitution - Missense(1)	lung(1)											90	85	86					1																	70486774		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1393G>C	1.37:g.70486774G>C	ENSP00000035383:p.Asp465His		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D465H	ENST00000035383.5	37	c.1393	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468610	0.84533	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.43294	0.95;1.02	5.72	5.72	0.89469	.	0.270973	0.41823	D	0.000809	T	0.24005	0.0581	N	0.14661	0.345	0.80722	D	1	P	0.45594	0.862	B	0.44278	0.445	T	0.06625	-1.0816	10	0.52906	T	0.07	.	18.8773	0.92343	0.0:0.0:1.0:0.0	.	465	Q96NW7	LRRC7_HUMAN	H	470;465;288	ENSP00000309245:D470H;ENSP00000035383:D465H	ENSP00000035383:D465H	D	+	1	0	LRRC7	70259362	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.399000	0.97285	2.689000	0.91719	0.655000	0.94253	GAC	LRRC7	-	NULL	ENSG00000033122		0.388	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	108	0	G	NM_020794		70486774	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	25.33	56	19	SNP	1.000	C	C	70486774	G	C	70486774	3	2	49	1	0	0	0	0	1	0	0	0	9055	942	33	5	1447	5	LRRC7	1	70486774	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	10152813	70486774	178763847	7	11732											
LRRC8C	84230	genome.wustl.edu	37	chr1	90180085	90180085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cataacagcatcacctacatCccagagcatataaagaaact	18	7	4	12	0	1	2	1	0	0	2	2	2	2	2	2	0	5	2	2	0	6	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:90180085C>T	ENST00000370454.4	+	3	2211	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	652					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TCACCTACATCCCAGAGCATA	0.418																																																	0													60	57	58					1																	90180085		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1956C>T	1.37:g.90180085C>T			B3KXS9|Q29RV6|Q9H075	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I652	ENST00000370454.4	37	c.1956	CCDS725.1	1																																																																																			LRRC8C	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171488		0.418	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	-	0	30	0	C	NM_032270		90180085	1	tier1	-	no_errors	ENST00000370454	ensembl	human	known	74_37	silent	51.72	13	15	SNP	1.000	T	T	90180085	C	T	90180085	2	4	49	1	0	0	0	0	0	0	0	1	9058	845	30	3		3	LRRC8C	1	90180085	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	19693311	90180085	159070536	8	11733											
WDR47	22911	genome.wustl.edu	37	chr1	109538263	109538263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgttgatccaggattacGaggagtgcttgtatgaatat	11	15	11	4	1	0	2	0	2	0	0	1	5	1	4	1	2	2	3	1	2	4	6	rs537396112|rs141474361	byFrequency	TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:109538263G>T	ENST00000369962.3	-	8	1852	c.1630C>A	c.(1630-1632)Cgt>Agt	p.R544S	WDR47_ENST00000357672.3_Missense_Mutation_p.R516S|WDR47_ENST00000361054.3_Missense_Mutation_p.R516S|WDR47_ENST00000400794.3_Missense_Mutation_p.R552S|WDR47_ENST00000369965.4_Missense_Mutation_p.R545S			O94967	WDR47_HUMAN	WD repeat domain 47	544					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCAGGATTACGAGGAGTGCTT	0.378																																																	0													262	261	261					1																	109538263		2203	4296	6499	SO:0001583	missense	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1630C>A	1.37:g.109538263G>T	ENSP00000358979:p.Arg544Ser		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R552S	ENST00000369962.3	37	c.1654	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.643916	0.29246	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	T;T;T;T;T	0.55760	0.5;0.51;0.5;0.5;0.5	5.64	2.18	0.27775	.	0.430479	0.28589	N	0.014812	T	0.15652	0.0377	L	0.27053	0.805	0.36885	D	0.889579	B;B;B;B	0.23990	0.095;0.0;0.0;0.0	B;B;B;B	0.19391	0.025;0.001;0.0;0.0	T	0.06058	-1.0848	10	0.17832	T	0.49	0.0119	7.7717	0.29012	0.1646:0.0:0.7136:0.1218	.	516;552;544;545	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	S	552;544;516;545;516	ENSP00000383599:R552S;ENSP00000358979:R544S;ENSP00000354339:R516S;ENSP00000358982:R545S;ENSP00000350301:R516S	ENSP00000350301:R516S	R	-	1	0	WDR47	109339786	0.912000	0.30974	0.992000	0.48379	0.993000	0.82548	2.281000	0.43452	0.217000	0.20800	0.561000	0.74099	CGT	WDR47	-	NULL	ENSG00000085433		0.378	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	-	0	54	0	G	NM_014969		109538263	-1	tier1	-	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.943	T	T	109538263	G	T	109538263	3	4	49	1	0	0	0	0	1	0	0	0	17349	1058	37	2	1161	2	WDR47	1	109538263	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	19358178	109538263	139712358	9	11734											
SPTA1	6708	genome.wustl.edu	37	chr1	158637785	158637785	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatgttttccagctgggtcTtattaactgccaactccttt	7	17	7	10	0	1	0	0	0	1	0	3	0	3	0	3	1	4	3	3	1	4	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:158637785T>G	ENST00000368147.4	-	15	2081	c.1901A>C	c.(1900-1902)aAg>aCg	p.K634T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	634					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCTGGGTCTTATTAACTGC	0.418																																																	0													183	179	180					1																	158637785		1859	4098	5957	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1901A>C	1.37:g.158637785T>G	ENSP00000357129:p.Lys634Thr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K634T	ENST00000368147.4	37	c.1901	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580045	0.28180	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.95	4.95	0.65309	.	0.883442	0.09181	N	0.837373	T	0.44371	0.1290	L	0.58810	1.83	0.31067	N	0.713414	B	0.26041	0.14	B	0.38020	0.263	T	0.50964	-0.8765	10	0.56958	D	0.05	.	13.6072	0.62054	0.0:0.0:0.0:1.0	.	634	P02549	SPTA1_HUMAN	T	634	ENSP00000357130:K634T;ENSP00000357129:K634T	ENSP00000357129:K634T	K	-	2	0	SPTA1	156904409	1.000000	0.71417	0.005000	0.12908	0.023000	0.10783	2.571000	0.45990	2.080000	0.62538	0.528000	0.53228	AAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	120	0	T	NM_003126		158637785	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	44.00	42	33	SNP	0.979	G	G	158637785	T	G	158637785	3	3	49	1	0	0	0	0	1	0	0	0	15163	1609	56	4	5510	4	SPTA1	1	158637785	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	49099522	158637785	90612836	10	11735											
PYHIN1	149628	genome.wustl.edu	37	chr1	158914673	158914673	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatactttcagatacagaaAaatacaaaccagagaagcca	21	6	6	8	0	1	3	1	0	0	3	1	5	1	3	2	0	5	0	2	0	8	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:158914673A>C	ENST00000368140.1	+	7	1445	c.1200A>C	c.(1198-1200)aaA>aaC	p.K400N	PYHIN1_ENST00000368138.3_Missense_Mutation_p.K391N|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K391N|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K400N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	400					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGATACAGAAAAATACAAACC	0.358																																																	0													52	52	52					1																	158914673		2203	4300	6503	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1200A>C	1.37:g.158914673A>C	ENSP00000357122:p.Lys400Asn		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K400N	ENST00000368140.1	37	c.1200	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	A	5.527	0.282141	0.10458	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.09255	3.0;3.01;3.16;3.17	2.32	-1.61	0.08399	Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.01627	0.0052	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.26002	0.139;0.139;0.139;0.05	B;B;B;B	0.25987	0.044;0.065;0.044;0.02	T	0.46707	-0.9172	9	0.38643	T	0.18	.	2.9124	0.05742	0.4382:0.2483:0.3135:0.0	.	391;400;391;400	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	N	400;391;400;391	ENSP00000357122:K400N;ENSP00000357120:K391N;ENSP00000376083:K400N;ENSP00000376082:K391N	ENSP00000357120:K391N	K	+	3	2	PYHIN1	157181297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.038000	0.12144	-0.408000	0.07565	-1.501000	0.00957	AAA	PYHIN1	-	NULL	ENSG00000163564		0.358	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1		0	44	0	A	NM_152501		158914673	1			no_errors	ENST00000368140	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.000	C	C	158914673	A	C	158914673	3	2	49	1	0	0	0	0	1	0	0	0	12910	11	1	4	1222	4	PYHIN1	1	158914673	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	276888	158914673	90335948	11	11736											
DARC	2532	genome.wustl.edu	37	chr1	159176205	159176205	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctccctgaaggatggTcttctcatctggacaccctt	6	12	8	15	0	3	1	1	1	3	0	5	3	4	3	4	3	1	0	4	3	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:159176205T>C	ENST00000368122.2	+	2	1655	c.976T>C	c.(976-978)Tct>Cct	p.S326P	DARC_ENST00000368121.2_Missense_Mutation_p.S328P|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.S326P	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		326			S -> F (in dbSNP:rs17851570). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6}.		chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGAAGGATGGTCTTCTCATCT	0.547																																																	0													215	233	227					1																	159176205		2203	4300	6503	SO:0001583	missense	0																														ENST00000368122.2:c.976T>C	1.37:g.159176205T>C	ENSP00000357104:p.Ser326Pro		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	prints_Duffy_chemokine_rcpt	p.S328P	ENST00000368122.2	37	c.982	CCDS1183.1	1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652623	0.47362	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.02552	4.26;4.26;4.25	4.89	-4.54	0.03452	.	.	.	.	.	T	0.01189	0.0039	N	0.17474	0.49	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.64687	0.928;0.928	T	0.39418	-0.9615	9	0.38643	T	0.18	-11.1036	0.226	0.00174	0.249:0.1814:0.2681:0.3015	.	328;326	Q5Y7A1;Q16570	.;DUFFY_HUMAN	P	326;326;326;328	ENSP00000357104:S326P;ENSP00000441985:S326P;ENSP00000357103:S328P	ENSP00000352341:S326P	S	+	1	0	DARC	157442829	0.009000	0.17119	0.002000	0.10522	0.759000	0.43091	-0.310000	0.08135	-0.722000	0.04922	0.482000	0.46254	TCT	DARC	-	NULL	ENSG00000213088		0.547	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	HGNC	protein_coding	OTTHUMT00000090338.2	-	0	120	0	T			159176205	1	tier1	-	no_errors	ENST00000368121	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.000	C	C	159176205	T	C	159176205	3	2	49	1	0	0	0	0	1	0	0	0	4249	1667	58	4	1009	4	DARC	1	159176205	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	261532	159176205	90074416	12	11737											
TNR	7143	genome.wustl.edu	37	chr1	175299237	175299237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgtagcttcctatgcGgagtttgtacaggtttctgc	5	15	12	9	2	1	0	0	0	1	0	2	1	2	1	2	2	4	6	2	2	3	7	rs144730675		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:175299237G>A	ENST00000367674.2	-	21	4474	c.3766C>T	c.(3766-3768)Cgc>Tgc	p.R1256C	TNR_ENST00000263525.2_Missense_Mutation_p.R1256C|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1256	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTTCCTATGCGGAGTTTGTAC	0.597																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	93	77	83		3766	4.7	1	1	dbSNP_134	83	0,8600		0,0,4300	no	missense	TNR	NM_003285.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1256/1359	175299237	1,13005	2203	4300	6503	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3766C>T	1.37:g.175299237G>A	ENSP00000356646:p.Arg1256Cys		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R1256C	ENST00000367674.2	37	c.3766	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572298	0.45798	2.27E-4	0.0	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.77620	-1.11;-1.11	5.64	4.73	0.59995	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.056848	0.64402	D	0.000002	D	0.89368	0.6695	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91381	0.5127	10	0.87932	D	0	.	15.737	0.77853	0.0:0.0:0.8622:0.1378	.	1256	Q92752	TENR_HUMAN	C	1256;1256;1166	ENSP00000356646:R1256C;ENSP00000263525:R1256C	ENSP00000263525:R1256C	R	-	1	0	TNR	173565860	1.000000	0.71417	0.992000	0.48379	0.053000	0.15095	2.956000	0.49129	1.378000	0.46305	-0.152000	0.13540	CGC	TNR	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000116147		0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	36	0	G	NM_003285		175299237	-1	tier1	rs144730675	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	63.64	12	21	SNP	1.000	A	A	175299237	G	A	175299237	3	1	49	1	0	0	0	0	1	0	0	0	16385	1116	39	1	322	1	TNR	1	175299237	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	16123032	175299237	73951384	13	11738											
ZNF648	127665	genome.wustl.edu	37	chr1	182026736	182026736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccaagaggttgcatcTgacctaacaatttgtgtgcg	9	11	11	10	1	1	2	0	1	1	1	2	2	2	2	3	2	3	2	3	2	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:182026736T>C	ENST00000339948.3	-	2	617	c.410A>G	c.(409-411)cAg>cGg	p.Q137R		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGTTGCATCTGACCTAACAA	0.567																																					NSCLC(71;908 1374 5429 20458 35642)												0													86	83	84					1																	182026736		2203	4300	6503	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.410A>G	1.37:g.182026736T>C	ENSP00000344129:p.Gln137Arg		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q137R	ENST00000339948.3	37	c.410	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	T	5.261	0.233640	0.09969	.	.	ENSG00000179930	ENST00000339948	T	0.08193	3.12	2.71	-5.43	0.02632	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39482	-0.9612	9	0.39692	T	0.17	.	4.2904	0.10876	0.1228:0.4719:0.2487:0.1566	.	137	Q5T619	ZN648_HUMAN	R	137	ENSP00000344129:Q137R	ENSP00000344129:Q137R	Q	-	2	0	ZNF648	180293359	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.873000	0.01637	-2.283000	0.00672	0.533000	0.62120	CAG	ZNF648	-	NULL	ENSG00000179930		0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	-	0	21	0	T	XM_060597		182026736	-1	tier1	-	no_errors	ENST00000339948	ensembl	human	novel	74_37	missense	36.84	24	14	SNP	0.000	C	C	182026736	T	C	182026736	3	2	49	1	0	0	0	0	1	0	0	0	18111	1580	55	4	1300	4	ZNF648	1	182026736	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	6727499	182026736	67223885	14	11739											
HMCN1	83872	genome.wustl.edu	37	chr1	186099193	186099193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaccgcagagaacagcGttggctttgtgaaggcaatt	10	10	13	8	2	0	2	0	1	0	1	0	3	0	2	1	2	3	5	1	2	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:186099193G>A	ENST00000271588.4	+	84	13229	c.13000G>A	c.(13000-13002)Gtt>Att	p.V4334I	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4334I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4334	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAGAACAGCGTTGGCTTTGT	0.388																																																	0													152	141	145					1																	186099193		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13000G>A	1.37:g.186099193G>A	ENSP00000271588:p.Val4334Ile		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V4334I	ENST00000271588.4	37	c.13000	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228763	0.58777	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68181	-0.31;-0.31	5.62	3.76	0.43208	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	0.179434	0.49305	N	0.000156	T	0.49218	0.1544	N	0.20807	0.61	0.46874	D	0.99923	B	0.33512	0.415	B	0.35073	0.195	T	0.33420	-0.9869	10	0.22109	T	0.4	.	10.3958	0.44201	0.1503:0.0:0.8497:0.0	.	4334	Q96RW7	HMCN1_HUMAN	I	4334	ENSP00000271588:V4334I;ENSP00000356462:V4334I	ENSP00000271588:V4334I	V	+	1	0	HMCN1	184365816	1.000000	0.71417	0.685000	0.30070	0.845000	0.48019	4.193000	0.58385	0.739000	0.32628	0.655000	0.94253	GTT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2	ENSG00000143341		0.388	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	57	0	G	NM_031935		186099193	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.979	A	A	186099193	G	A	186099193	3	1	49	1	0	0	0	0	1	0	0	0	7247	1145	40	1	13334	1	HMCN1	1	186099193	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	4072457	186099193	63151428	15	11740											
CFHR1	3078	genome.wustl.edu	37	chr1	196794651	196794651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaccatggaattctatatGatgaagaaaaatataagcca	20	10	6	5	0	1	3	0	2	1	1	1	4	1	4	2	1	2	0	2	1	10	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:196794651G>A	ENST00000320493.5	+	2	191	c.103G>A	c.(103-105)Gat>Aat	p.D35N	CFHR1_ENST00000367424.4_Missense_Mutation_p.D35N|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	35	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AATTCTATATGATGAAGAAAA	0.294																																																	0													36	44	42					1																	196794651		1835	4111	5946	SO:0001583	missense	0			M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"Complement system"	4888	protein-coding gene	gene with protein product		134371	"H factor (complement)-like 1", "complement factor H-related 1 pseudogene", "H factor (complement)-like 2"	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.103G>A	1.37:g.196794651G>A	ENSP00000314299:p.Asp35Asn		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D35N	ENST00000320493.5	37	c.103	CCDS1386.1	1	.	.	.	.	.	.	.	.	.	.	G	9.553	1.116426	0.20795	.	.	ENSG00000244414	ENST00000367424;ENST00000320493	T;T	0.40756	1.02;1.02	4.02	-0.287	0.12858	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.24392	0.0591	L	0.29908	0.895	0.20403	N	0.99991	B	0.26195	0.144	B	0.28553	0.091	T	0.26018	-1.0115	9	0.16420	T	0.52	.	3.4031	0.07331	0.3558:0.2018:0.4424:0.0	.	35	Q03591	FHR1_HUMAN	N	35	ENSP00000356394:D35N;ENSP00000314299:D35N	ENSP00000314299:D35N	D	+	1	0	CFHR1	195061274	0.045000	0.20229	0.783000	0.31826	0.711000	0.40976	0.416000	0.21198	0.368000	0.24481	0.430000	0.28490	GAT	CFHR1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000244414		0.294	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR1	HGNC	protein_coding	OTTHUMT00000088251.2	-	0	54	0	G	NM_002113		196794651	1	tier1	-	no_errors	ENST00000320493	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.212	A	A	196794651	G	A	196794651	3	1	49	1	0	0	0	0	1	0	0	0	3291	1290	45	3	109	3	CFHR1	1	196794651	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	10695458	196794651	52455970	16	11741											
PLXNA2	5362	genome.wustl.edu	37	chr1	208390629	208390629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgctgtgtagctcatagtcGagcatggctgaggactcagg	8	10	14	9	2	2	1	2	1	0	0	4	3	2	2	0	3	2	5	0	3	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:208390629G>A	ENST00000367033.3	-	2	1396	c.639C>T	c.(637-639)ctC>ctT	p.L213L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	213	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCTCATAGTCGAGCATGGCTG	0.562																																																	0													150	159	156					1																	208390629		2203	4300	6503	SO:0001819	synonymous_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.639C>T	1.37:g.208390629G>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L213	ENST00000367033.3	37	c.639	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	58	0	G	NM_025179		208390629	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	silent	50.00	23	23	SNP	0.003	A	A	208390629	G	A	208390629	2	1	49	1	0	0	0	0	0	0	0	1	12159	1045	37	1		1	PLXNA2	1	208390629	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	11595978	208390629	40859992	17	11742											
USH2A	7399	genome.wustl.edu	37	chr1	216270459	216270459	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaataaagacgtcccttcTtcaactgaagtgcaaaatac	17	9	6	9	1	2	2	1	1	1	1	3	3	3	2	1	0	3	1	1	0	9	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:216270459T>G	ENST00000307340.3	-	22	5110	c.4724A>C	c.(4723-4725)aAg>aCg	p.K1575T	USH2A_ENST00000366943.2_Missense_Mutation_p.K1575T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1575	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGTCCCTTCTTCAACTGAAG	0.378										HNSCC(13;0.011)																																							0													69	67	68					1																	216270459		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4724A>C	1.37:g.216270459T>G	ENSP00000305941:p.Lys1575Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1575T	ENST00000307340.3	37	c.4724	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476469	0.63737	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77750	-1.12;-1.12	5.89	2.31	0.28768	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.139815	0.32503	N	0.006020	T	0.78672	0.4320	L	0.59436	1.845	0.27615	N	0.948527	D	0.71674	0.998	P	0.59115	0.852	T	0.67821	-0.5571	10	0.35671	T	0.21	.	4.7672	0.13137	0.0:0.3126:0.1548:0.5326	.	1575	O75445	USH2A_HUMAN	T	1575	ENSP00000305941:K1575T;ENSP00000355910:K1575T	ENSP00000305941:K1575T	K	-	2	0	USH2A	214337082	0.554000	0.26522	0.997000	0.53966	0.994000	0.84299	0.259000	0.18405	0.454000	0.26884	0.533000	0.62120	AAG	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	35	0	T	NM_007123		216270459	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.991	G	G	216270459	T	G	216270459	3	3	49	1	0	0	0	0	1	0	0	0	17085	1609	56	4	11088	4	USH2A	1	216270459	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	7879830	216270459	32980162	18	11743											
ACBD3	64746	genome.wustl.edu	37	chr1	226340281	226340281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagtctttgatctgaggtCgtgtccacatggatggagct	8	13	13	7	1	2	3	0	3	2	0	4	5	3	5	1	3	1	1	1	3	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:226340281C>T	ENST00000366812.5	-	7	1184	c.1130G>A	c.(1129-1131)cGa>cAa	p.R377Q	ACBD3_ENST00000464927.1_5'Flank|RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	377					steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GATCTGAGGTCGTGTCCACAT	0.463																																																	0													144	150	148					1																	226340281		2203	4300	6503	SO:0001583	missense	0			AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"A-kinase anchor proteins"	15453	protein-coding gene	gene with protein product	"PBR- and PKA-associated protein 7"	606809	"golgi complex associated protein 1, 60kDa", "acyl-Coenzyme A binding domain containing 3"	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.1130G>A	1.37:g.226340281C>T	ENSP00000355777:p.Arg377Gln		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD	p.R377Q	ENST00000366812.5	37	c.1130	CCDS1551.1	1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255864	0.59321	.	.	ENSG00000182827	ENST00000366812	T	0.55930	0.49	5.29	3.41	0.39046	.	0.249234	0.41097	N	0.000957	T	0.65984	0.2744	M	0.73598	2.24	0.80722	D	1	D	0.69078	0.997	P	0.60949	0.881	T	0.67015	-0.5777	10	0.66056	D	0.02	-2.8531	10.0499	0.42210	0.1382:0.7901:0.0:0.0718	.	377	Q9H3P7	GCP60_HUMAN	Q	377	ENSP00000355777:R377Q	ENSP00000355777:R377Q	R	-	2	0	ACBD3	224406904	1.000000	0.71417	0.718000	0.30602	0.003000	0.03518	7.426000	0.80270	0.613000	0.30089	-0.169000	0.13324	CGA	ACBD3	-	NULL	ENSG00000182827		0.463	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACBD3	HGNC	protein_coding	OTTHUMT00000091528.1	-	0	75	0	C	NM_022735		226340281	-1	tier1	-	no_errors	ENST00000366812	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.923	T	T	226340281	C	T	226340281	3	4	49	1	0	0	0	0	1	0	0	0	123	884	31	1	464	1	ACBD3	1	226340281	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	10069822	226340281	22910340	19	11744											
RYR2	6262	genome.wustl.edu	37	chr1	237886427	237886427	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttttccttttttctgcaGttggaggatcctgctattag	6	18	8	9	0	1	0	0	0	1	0	3	2	3	2	3	2	2	3	3	2	2	8			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:237886427G>T	ENST00000366574.2	+	74	10871		c.e74-1		RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000609119.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTTCTGCAGTTGGAGGATC	0.393																																																	0													183	168	172					1																	237886427		1854	4100	5954	SO:0001630	splice_region_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10555-1G>T	1.37:g.237886427G>T			Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	-	e75-1	ENST00000366574.2	37	c.10549-1	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652084	0.88056	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9784	0.97317	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR2	235953050	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	9.483000	0.97937	2.800000	0.96347	0.455000	0.32223	.	RYR2	-	-	ENSG00000198626		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	137	0	G	NM_001035	Intron	237886427	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	splice_site	46.15	49	42	SNP	1.000	T	T	237886427	G	T	237886427	5	4	49	1	0	0	0	0	0	0	1	0	13814	1043	36	3	10848	3	RYR2	1	237886427	Splice_Site	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	11546146	237886427	11364194	20	11745											
OR14A16	284532	genome.wustl.edu	37	chr1	247978230	247978230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacacagaaattacagcatCcaaaatagaaggagactctg	19	6	8	8	0	1	3	0	0	1	3	2	5	2	3	1	1	3	1	1	1	7	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr1:247978230C>A	ENST00000357627.1	-	1	801	c.802G>T	c.(802-804)Gat>Tat	p.D268Y		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ATTACAGCATCCAAAATAGAA	0.423																																					Ovarian(112;180 1586 15073 21914 33526)												0													72	71	71					1																	247978230		2203	4300	6503	SO:0001583	missense	0			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.802G>T	1.37:g.247978230C>A	ENSP00000350248:p.Asp268Tyr		Q6IF96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D268Y	ENST00000357627.1	37	c.802	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890370	0.33348	.	.	ENSG00000196772	ENST00000357627	T	0.00256	8.42	3.55	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.281269	0.24156	U	0.041037	T	0.00784	0.0026	H	0.97291	3.975	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.33137	-0.9880	10	0.72032	D	0.01	.	6.6118	0.22755	0.0:0.7147:0.1847:0.1007	.	268	Q8NHC5	O14AG_HUMAN	Y	268	ENSP00000350248:D268Y	ENSP00000350248:D268Y	D	-	1	0	OR14A16	246044853	0.000000	0.05858	0.018000	0.16275	0.008000	0.06430	-1.288000	0.02783	0.676000	0.31285	0.596000	0.82720	GAT	OR14A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196772		0.423	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14A16	HGNC	protein_coding	OTTHUMT00000096856.1	-	0	27	0	C	NM_001001966		247978230	-1	tier1	-	no_errors	ENST00000357627	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.053	A	A	247978230	C	A	247978230	3	1	49	1	0	0	0	0	1	0	0	0	10984	855	30	3	131	3	OR14A16	1	247978230	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	10091803	247978230	1272391	21	11746											
KIDINS220	57498	genome.wustl.edu	37	chr2	8890383	8890383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgtaccctgatggCgccctaggaggaccctcatg	6	8	14	13	1	1	1	1	1	0	0	1	3	1	3	3	5	1	3	3	5	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:8890383C>T	ENST00000256707.3	-	24	3454	c.3273G>A	c.(3271-3273)gcG>gcA	p.A1091A	KIDINS220_ENST00000418530.1_Silent_p.A1049A|KIDINS220_ENST00000473731.1_Silent_p.A1091A|KIDINS220_ENST00000427284.1_Silent_p.A1091A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1091	Mediates interaction with CRKL. {ECO:0000250}.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCCTGATGGCGCCCTAGGAG	0.577																																																	0													65	69	67					2																	8890383		1986	4152	6138	SO:0001819	synonymous_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3273G>A	2.37:g.8890383C>T			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A1091	ENST00000256707.3	37	c.3273	CCDS42650.1	2																																																																																			KIDINS220	-	NULL	ENSG00000134313		0.577	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0	27	0	C	NM_020738		8890383	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.000	T	T	8890383	C	T	8890383	2	4	49	1	0	0	0	0	0	0	0	1	8298	755	27	1		1	KIDINS220	2	8890383	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		8890383	234308990	22	11747											
GDF7	151449	genome.wustl.edu	37	chr2	20870289	20870289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccttaacgacgcagacGaggtggtgggtgccgagctg	8	6	16	11	4	0	1	0	0	0	1	0	4	0	1	3	3	4	2	3	3	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:20870289G>A	ENST00000272224.3	+	2	1033	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	153					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACGCAGACGAGGTGGTGGG	0.662																																																	0													25	24	24					2																	20870289		2200	4299	6499	SO:0001583	missense	0			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.457G>A	2.37:g.20870289G>A	ENSP00000272224:p.Glu153Lys			Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.E153K	ENST00000272224.3	37	c.457	CCDS1701.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207995	0.79240	.	.	ENSG00000143869	ENST00000272224	T	0.64438	-0.1	3.74	3.74	0.42951	Transforming growth factor-beta, N-terminal (1);	0.238170	0.23943	U	0.043027	T	0.75532	0.3862	M	0.62723	1.935	0.44024	D	0.996744	D	0.89917	1.0	D	0.80764	0.994	T	0.76369	-0.2984	10	0.41790	T	0.15	.	16.0775	0.80979	0.0:0.0:1.0:0.0	.	153	Q7Z4P5	GDF7_HUMAN	K	153	ENSP00000272224:E153K	ENSP00000272224:E153K	E	+	1	0	GDF7	20733770	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.433000	0.80362	2.092000	0.63282	0.462000	0.41574	GAG	GDF7	-	pfam_TGF-b_N	ENSG00000143869		0.662	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	-	0	63	0	G	NM_182828		20870289	1	tier1	-	no_errors	ENST00000272224	ensembl	human	known	74_37	missense	33.33	44	22	SNP	1.000	A	A	20870289	G	A	20870289	3	1	49	1	0	0	0	0	1	0	0	0	6344	1059	37	1	463	1	GDF7	2	20870289	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	11979906	20870289	222329084	23	11748											
MSH2	4436	genome.wustl.edu	37	chr2	47637242	47637242	+	Frame_Shift_Del	DEL	G	G	-																															tttttacttaggcttctcctGgcaatctctctcagtttgaa																										TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:47637242delG	ENST00000233146.2	+	3	599	c.376delG	c.(376-378)ggcfs	p.G126fs	MSH2_ENST00000543555.1_Frame_Shift_Del_p.G60fs|MSH2_ENST00000406134.1_Frame_Shift_Del_p.G126fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	126					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGCTTCTCCTGGCAATctctc	0.328			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	3	Whole gene deletion(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(3)											162	166	164					2																	47637242		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)", "mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.376delG	2.37:g.47637242delG	ENSP00000233146:p.Gly126fs		B4E2Z2|O75488	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_MSH2	p.G126fs	ENST00000233146.2	37	c.376	CCDS1834.1	2																																																																																			MSH2	-	pfam_DNA_mismatch_repair_MutS-lik_N,pirsf_DNA_mismatch_repair_MSH2	ENSG00000095002		0.328	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH2	HGNC	protein_coding	OTTHUMT00000250805.3		0	44	0	G			47637242	1	tier1		no_errors	ENST00000233146	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	47637242	G	-	47637242	7	5	49	1	0	1	0	1	0	0	0	0	9908	1348	47	0	386	0	MSH2	2	47637242	Frame_Shift_Del	DEL	G	TCGA-L5-A43E-01A-11D-A247-09	26766953	47637242	195562131	24	11749											
RNF103	7844	genome.wustl.edu	37	chr2	86831886	86831886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagctatctaagtaaggtaGctgtaaaaagcccaacacag	18	7	8	8	0	1	0	0	0	1	0	1	0	1	0	1	1	4	5	1	1	9	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:86831886G>T	ENST00000237455.4	-	4	2106	c.1138C>A	c.(1138-1140)Cta>Ata	p.L380I	RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	380					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						AAGTAAGGTAGCTGTAAAAAG	0.368																																																	0													59	64	63					2																	86831886		2201	4298	6499	SO:0001583	missense	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1138C>A	2.37:g.86831886G>T	ENSP00000237455:p.Leu380Ile		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.L380I	ENST00000237455.4	37	c.1138	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746414	0.49257	.	.	ENSG00000239305	ENST00000237455	T	0.52295	0.67	5.59	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	M	0.64997	1.995	0.54753	D	0.99998	D	0.69078	0.997	D	0.72625	0.978	T	0.65096	-0.6251	10	0.87932	D	0	-9.874	11.232	0.48918	0.1402:0.0:0.8598:0.0	.	380	O00237	RN103_HUMAN	I	380	ENSP00000237455:L380I	ENSP00000237455:L380I	L	-	1	2	RNF103	86685397	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.532000	0.45659	2.641000	0.89580	0.460000	0.39030	CTA	RNF103	-	NULL	ENSG00000239305		0.368	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2		0	50	0	G	NM_005667		86831886	-1			no_errors	ENST00000237455	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	86831886	G	T	86831886	3	4	49	1	0	0	0	0	1	0	0	0	13468	962	34	3	923	3	RNF103	2	86831886	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	39194644	86831886	156367487	25	11750											
SNRNP200	23020	genome.wustl.edu	37	chr2	96942904	96942904	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagccacatctgcaatctGgctgtcagtcagctgaagca	10	8	11	12	1	4	1	2	1	2	0	4	2	4	1	1	1	4	4	1	1	2	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:96942904G>A	ENST00000323853.5	-	42	6084	c.6007C>T	c.(6007-6009)Cag>Tag	p.Q2003*	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	2003	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTGCAATCTGGCTGTCAGTC	0.507																																																	0													147	137	140					2																	96942904		2203	4300	6503	SO:0001587	stop_gained	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.6007C>T	2.37:g.96942904G>A	ENSP00000317123:p.Gln2003*		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q2003*	ENST00000323853.5	37	c.6007	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.025913	0.98616	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-21.5037	17.1135	0.86682	0.0:0.0:1.0:0.0	.	.	.	.	X	2003;462;586	.	ENSP00000317123:Q2003X	Q	-	1	0	SNRNP200	96306631	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.282000	0.78630	2.647000	0.89833	0.563000	0.77884	CAG	SNRNP200	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000144028		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	-	0	38	0	G	NM_014014		96942904	-1	tier1	-	no_errors	ENST00000323853	ensembl	human	known	74_37	nonsense	20.83	19	5	SNP	1.000	A	A	96942904	G	A	96942904	4	1	49	1	0	0	0	0	0	1	0	0	14897	1357	47	3	419	3	SNRNP200	2	96942904	Nonsense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	10111018	96942904	146256469	26	11751											
RGPD4	285190	genome.wustl.edu	37	chr2	108487634	108487634	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataggagaagaaggtgaaaaAgttctgtattcacagggggt	15	9	14	3	0	2	3	1	1	1	2	2	4	2	3	0	4	0	2	0	4	6	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:108487634A>C	ENST00000408999.3	+	20	3251	c.3174A>C	c.(3172-3174)aaA>aaC	p.K1058N	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1058N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1058	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAGGTGAAAAAGTTCTGTATT	0.393																																																	0													12	9	10					2																	108487634		683	1568	2251	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3174A>C	2.37:g.108487634A>C	ENSP00000386810:p.Lys1058Asn		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.K1058N	ENST00000408999.3	37	c.3174	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	8.636	0.894792	0.17613	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.44881	0.91;0.91	2.33	-0.121	0.13535	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.42988	0.1227	L	0.45470	1.425	0.26714	N	0.970911	P	0.41710	0.76	P	0.50405	0.64	T	0.36553	-0.9743	9	0.54805	T	0.06	-35.9806	6.2727	0.20963	0.7262:0.0:0.2738:0.0	.	1058	Q7Z3J3	RGPD4_HUMAN	N	1058;1058;816	ENSP00000347081:K1058N;ENSP00000386810:K1058N	ENSP00000347081:K1058N	K	+	3	2	RGPD4	107854066	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	1.168000	0.31859	0.156000	0.19299	0.136000	0.15936	AAA	RGPD4	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000196862		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0	208	0	A	XM_496581		108487634	1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	44.32	103	82	SNP	1.000	C	C	108487634	A	C	108487634	3	2	49	1	0	0	0	0	1	0	0	0	13333	69	3	4	3252	4	RGPD4	2	108487634	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	11544730	108487634	134711739	27	11752											
MARCO	8685	genome.wustl.edu	37	chr2	119731921	119731921	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaggtcttcaaggtcAcaagggggccatgggcatgc	8	9	13	11	0	4	0	3	0	1	0	5	0	5	0	2	5	1	1	2	5	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:119731921A>C	ENST00000327097.4	+	5	608	c.473A>C	c.(472-474)cAc>cCc	p.H158P	MARCO_ENST00000541757.1_Missense_Mutation_p.H80P	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	158	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CTTCAAGGTCACAAGGGGGCC	0.567																																					GBM(8;18 374 7467 11269 32796)												0													63	59	60					2																	119731921		2200	4299	6499	SO:0001583	missense	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.473A>C	2.37:g.119731921A>C	ENSP00000318916:p.His158Pro		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.H158P	ENST00000327097.4	37	c.473	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	A	6.739	0.505107	0.12822	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.89681	-2.55;-2.55	4.43	-4.91	0.03085	.	2.258190	0.01471	N	0.016272	T	0.64249	0.2581	N	0.00608	-1.33	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64470	-0.6400	9	.	.	.	.	4.6554	0.12615	0.3329:0.4828:0.0886:0.0956	.	158	Q9UEW3	MARCO_HUMAN	P	158;158;80	ENSP00000318916:H158P;ENSP00000441769:H80P	.	H	+	2	0	MARCO	119448391	0.030000	0.19436	0.000000	0.03702	0.019000	0.09904	-0.511000	0.06321	-0.995000	0.03459	-0.301000	0.09380	CAC	MARCO	-	pfam_Collagen	ENSG00000019169		0.567	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0	56	0	A	NM_006770		119731921	1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	55.10	22	27	SNP	0.001	C	C	119731921	A	C	119731921	3	2	49	1	0	0	0	0	1	0	0	0	9349	159	6	4	491	4	MARCO	2	119731921	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	11244287	119731921	123467452	28	11753											
CNTNAP5	129684	genome.wustl.edu	37	chr2	124999867	124999867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagattacagcagtggccaCgcagggaagatacggaagct	14	5	14	8	2	0	2	0	0	0	2	0	5	0	4	1	3	4	3	1	3	4	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:124999867C>T	ENST00000431078.1	+	3	642	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	93	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T93M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGTGGCCACGCAGGGAAGA	0.527																																																	1	Substitution - Missense(1)	large_intestine(1)											69	74	73					2																	124999867		2050	4199	6249	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.278C>T	2.37:g.124999867C>T	ENSP00000399013:p.Thr93Met		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T93M	ENST00000431078.1	37	c.278	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.678496	0.88542	.	.	ENSG00000155052	ENST00000431078	D	0.98585	-5.01	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.52532	D	0.000072	D	0.99468	0.9811	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98221	1.0478	10	0.87932	D	0	.	19.1032	0.93282	0.0:1.0:0.0:0.0	.	93	Q8WYK1	CNTP5_HUMAN	M	93	ENSP00000399013:T93M	ENSP00000399013:T93M	T	+	2	0	CNTNAP5	124716337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.705000	0.84606	2.761000	0.94854	0.650000	0.86243	ACG	CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000155052		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	64	0	C			124999867	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	T	T	124999867	C	T	124999867	3	4	49	1	0	0	0	0	1	0	0	0	3657	536	19	1	288	1	CNTNAP5	2	124999867	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	5267946	124999867	118199506	29	11754											
WDR33	55339	genome.wustl.edu	37	chr2	128477433	128477433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgaccctgagggccaggCgggccttgggggcctatgtg	6	7	18	10	1	0	2	0	2	0	0	0	2	0	2	4	5	0	0	4	5	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:128477433C>T	ENST00000322313.4	-	16	2324	c.2166G>A	c.(2164-2166)ccG>ccA	p.P722P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	722	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAGGGCCAGGCGGGCCTTGGG	0.637																																																	0													64	75	71					2																	128477433		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"WD repeat domain containing"	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2166G>A	2.37:g.128477433C>T			Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P722	ENST00000322313.4	37	c.2166	CCDS2150.1	2																																																																																			WDR33	-	pfam_Collagen	ENSG00000136709		0.637	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	-	0	23	0	C	NM_018383		128477433	-1	tier1	-	no_errors	ENST00000322313	ensembl	human	known	74_37	silent	57.58	14	19	SNP	0.154	T	T	128477433	C	T	128477433	2	4	49	1	0	0	0	0	0	0	0	1	17336	755	27	1		1	WDR33	2	128477433	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	3477566	128477433	114721940	30	11755											
LRP1B	53353	genome.wustl.edu	37	chr2	141597656	141597656	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcggtccagtagagttttcTtaattcaaaagacatatgga	14	13	8	6	1	2	2	1	0	1	2	4	3	3	3	1	2	0	2	1	2	5	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:141597656T>G	ENST00000389484.3	-	31	6086		c.e31-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAGTTTTCTTAATTCAAAA	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													69	64	66					2																	141597656		2203	4299	6502	SO:0001630	splice_region_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5115-2A>C	2.37:g.141597656T>G			Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	-	e31-2	ENST00000389484.3	37	c.5115-2	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601387	0.87055	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5873	0.76495	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	141314126	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.434000	0.80377	2.087000	0.62958	0.377000	0.23210	.	LRP1B	-	-	ENSG00000168702		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	35	0	T	NM_018557	Intron	141597656	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	splice_site	29.63	19	8	SNP	1.000	G	G	141597656	T	G	141597656	5	3	49	1	0	0	0	0	0	0	1	0	8990	1623	56	4	8930	4	LRP1B	2	141597656	Splice_Site	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	13120223	141597656	101601717	31	11756											
BAZ2B	29994	genome.wustl.edu	37	chr2	160194204	160194204	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaattctccatcatgctccTtgcacaatttagtaaatgat	13	15	4	9	0	2	1	1	1	1	0	4	1	3	1	2	0	2	3	2	0	6	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:160194204T>C	ENST00000392783.2	-	32	6029	c.5534A>G	c.(5533-5535)aAg>aGg	p.K1845R	BAZ2B_ENST00000343439.5_Missense_Mutation_p.K1745R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K1811R|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K1809R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1845					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ATCATGCTCCTTGCACAATTT	0.433																																																	0													134	131	132					2																	160194204		1920	4140	6060	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5534A>G	2.37:g.160194204T>C	ENSP00000376534:p.Lys1845Arg		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.K1845R	ENST00000392783.2	37	c.5534	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	T	12.25	1.880735	0.33255	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.59502	0.33;0.33;0.33;0.26	5.78	5.78	0.91487	.	0.000000	0.38720	U	0.001591	T	0.50103	0.1596	L	0.31926	0.97	0.54753	D	0.999989	P;P	0.37955	0.612;0.555	B;B	0.37692	0.256;0.138	T	0.52373	-0.8584	10	0.48119	T	0.1	-11.7145	16.1021	0.81178	0.0:0.0:0.0:1.0	.	1809;1845	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	R	1809;1845;1811;1745;63	ENSP00000376533:K1809R;ENSP00000376534:K1845R;ENSP00000348087:K1811R;ENSP00000339670:K1745R	ENSP00000339670:K1745R	K	-	2	0	BAZ2B	159902450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.383000	0.52471	2.210000	0.71456	0.533000	0.62120	AAG	BAZ2B	-	NULL	ENSG00000123636		0.433	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0	77	0	T			160194204	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	C	C	160194204	T	C	160194204	3	2	49	1	0	0	0	0	1	0	0	0	1333	1609	56	4	996	4	BAZ2B	2	160194204	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	18596548	160194204	83005169	32	11757											
LRP2	4036	genome.wustl.edu	37	chr2	170072829	170072829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaagagtgacacactccagGtgttcgaggttcccagtaaa	12	9	10	10	1	1	2	1	1	0	1	4	3	3	2	2	2	0	3	2	2	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:170072829G>T	ENST00000263816.3	-	35	6045	c.5760C>A	c.(5758-5760)caC>caA	p.H1920Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1920					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CACACTCCAGGTGTTCGAGGT	0.498																																																	0													146	131	136					2																	170072829		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5760C>A	2.37:g.170072829G>T	ENSP00000263816:p.His1920Gln		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H1920Q	ENST00000263816.3	37	c.5760	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	7.622	0.677113	0.14841	.	.	ENSG00000081479	ENST00000263816	D	0.96396	-4.0	5.49	-4.07	0.03975	Six-bladed beta-propeller, TolB-like (1);	0.147454	0.64402	D	0.000011	D	0.95840	0.8646	L	0.53617	1.68	0.38888	D	0.957059	D	0.60160	0.987	P	0.59357	0.856	D	0.93322	0.6693	10	0.30078	T	0.28	.	15.6567	0.77140	0.7004:0.0:0.2996:0.0	.	1920	P98164	LRP2_HUMAN	Q	1920	ENSP00000263816:H1920Q	ENSP00000263816:H1920Q	H	-	3	2	LRP2	169781075	0.002000	0.14202	0.001000	0.08648	0.210000	0.24377	0.006000	0.13152	-0.730000	0.04869	0.655000	0.94253	CAC	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	59	0	G	NM_004525		170072829	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	23.81	32	10	SNP	0.024	T	T	170072829	G	T	170072829	3	4	49	1	0	0	0	0	1	0	0	0	8991	1252	44	3	8387	3	LRP2	2	170072829	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	9878625	170072829	73126544	33	11758											
TTN	7273	genome.wustl.edu	37	chr2	179460306	179460306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatactattttcagccgCaattcggaaaaagtaggctt	13	11	8	9	2	1	0	1	0	0	0	2	1	1	1	2	2	2	3	2	2	7	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:179460306C>A	ENST00000591111.1	-	245	53076	c.52852G>T	c.(52852-52854)Gcg>Tcg	p.A17618S	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A10386S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16691S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A10194S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10319S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A19259S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17618	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAGCCGCAATTCGGAAA	0.408																																																	0													44	42	43					2																	179460306		1865	4108	5973	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52852G>T	2.37:g.179460306C>A	ENSP00000465570:p.Ala17618Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A16691S	ENST00000591111.1	37	c.50071		2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635499	0.67130	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60792	0.2296	N	0.16166	0.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.66288	-0.5961	9	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	10194;10319;10386;17618	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	16691;10194;10386;10319;10192	ENSP00000343764:A16691S;ENSP00000434586:A10194S;ENSP00000340554:A10386S;ENSP00000352154:A10319S	ENSP00000340554:A10386S	A	-	1	0	TTN	179168552	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.770000	0.85390	2.843000	0.97960	0.585000	0.79938	GCG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	45	0	C	NM_133378		179460306	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	A	A	179460306	C	A	179460306	3	1	49	1	0	0	0	0	1	0	0	0	16784	710	25	3	50476	3	TTN	2	179460306	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	9387477	179460306	63739067	34	11759											
TTN	7273	genome.wustl.edu	37	chr2	179500730	179500730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacactccaggttgttggcGttttccacagtaactgtgta	9	13	10	9	1	0	0	0	0	0	0	2	1	2	0	2	2	2	5	2	2	3	6	rs559906667		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:179500730G>A	ENST00000591111.1	-	176	36869	c.36645C>T	c.(36643-36645)aaC>aaT	p.N12215N	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.N4983N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.N11288N|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Silent_p.N4791N|TTN_ENST00000359218.5_Silent_p.N4916N|TTN_ENST00000589042.1_Silent_p.N13856N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12215	Ig-like 81.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTGTTGGCGTTTTCCACAG	0.453													G|||	1	0.000199681	0	0	5008	,	,		19059	0		0	False		,,,				2504	0.001																0													120	123	122					2																	179500730		1981	4168	6149	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36645C>T	2.37:g.179500730G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.N11288	ENST00000591111.1	37	c.33864		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	35	0	G	NM_133378		179500730	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	24.14	22	7	SNP	0.101	A	A	179500730	G	A	179500730	2	1	49	1	0	0	0	0	0	0	0	1	16784	1136	40	1		1	TTN	2	179500730	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	40424	179500730	63698643	35	11760											
TTN	7273	genome.wustl.edu	37	chr2	179516898	179516898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggacagctacctttggcaCctctgggactttaaaagata	11	11	10	9	0	1	1	0	0	1	1	1	3	1	3	2	3	2	2	2	3	4	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:179516898C>A	ENST00000591111.1	-	159	34923	c.34699G>T	c.(34699-34701)Gtg>Ttg	p.V11567L	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10640L|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V13074L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11567	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTGGCACCTCTGGGACT	0.393																																																	0													102	98	99					2																	179516898		1809	4073	5882	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34699G>T	2.37:g.179516898C>A	ENSP00000465570:p.Val11567Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V10640L	ENST00000591111.1	37	c.31918		2	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334139	0.24253	.	.	ENSG00000155657	ENST00000342992	T	0.71103	-0.54	5.0	4.13	0.48395	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.65471	0.2694	L	0.56124	1.755	0.23751	N	0.99694	B	0.02656	0.0	B	0.04013	0.001	T	0.60100	-0.7329	9	0.87932	D	0	.	9.8816	0.41236	0.0:0.7821:0.1396:0.0782	.	11567	Q8WZ42	TITIN_HUMAN	L	10640	ENSP00000343764:V10640L	ENSP00000343764:V10640L	V	-	1	0	TTN	179225143	0.527000	0.26306	0.999000	0.59377	0.369000	0.29798	0.261000	0.18442	1.249000	0.43950	0.650000	0.86243	GTG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	133	0	C	NM_133378		179516898	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	20.77	103	27	SNP	1.000	A	A	179516898	C	A	179516898	3	1	49	1	0	0	0	0	1	0	0	0	16784	507	18	3	68687	3	TTN	2	179516898	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	16168	179516898	63682475	36	11761											
TTN	7273	genome.wustl.edu	37	chr2	179593075	179593075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatagaagagcccagaacTttatccattttggttaattt	13	15	7	6	0	0	4	0	1	0	3	1	4	1	4	2	1	2	1	2	1	6	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:179593075T>G	ENST00000591111.1	-	65	18749	c.18525A>C	c.(18523-18525)aaA>aaC	p.K6175N	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K5248N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K6492N|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12956	Ig-like 43.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCCAGAACTTTATCCATTT	0.363																																																	0													61	58	59					2																	179593075		1830	4089	5919	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18525A>C	2.37:g.179593075T>G	ENSP00000465570:p.Lys6175Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K5248N	ENST00000591111.1	37	c.15744		2	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690099	0.15039	.	.	ENSG00000155657	ENST00000342992	T	0.66815	-0.23	5.76	3.38	0.38709	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51958	0.1705	L	0.33339	1.005	0.80722	D	1	P	0.39717	0.684	B	0.37780	0.258	T	0.50617	-0.8807	9	0.87932	D	0	.	6.5498	0.22427	0.0:0.1961:0.1202:0.6837	.	6175	Q8WZ42	TITIN_HUMAN	N	5248	ENSP00000343764:K5248N	ENSP00000343764:K5248N	K	-	3	2	TTN	179301320	0.985000	0.35326	0.986000	0.45419	0.975000	0.68041	0.196000	0.17176	0.525000	0.28522	-0.256000	0.11100	AAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	23	0	T	NM_133378		179593075	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	25.00	9	3	SNP	0.975	G	G	179593075	T	G	179593075	3	3	49	1	0	0	0	0	1	0	0	0	16784	1606	56	4	85237	4	TTN	2	179593075	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	76177	179593075	63606298	37	11762											
TTN	7273	genome.wustl.edu	37	chr2	179604014	179604014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcttgtaaacacttgaacTtttcatctgaaggcaccagt	12	13	7	9	0	3	2	1	2	2	0	3	3	3	2	1	1	2	2	1	1	4	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:179604014T>A	ENST00000591111.1	-	46	13219	c.12995A>T	c.(12994-12996)aAg>aTg	p.K4332M	TTN_ENST00000342175.6_Missense_Mutation_p.K4478M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.K4286M|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K4411M|TTN_ENST00000589042.1_Missense_Mutation_p.K4649M			Q8WZ42	TITIN_HUMAN	titin	12090	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K4478T(1)|p.K4411T(1)|p.K4286T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACTTGAACTTTTCATCTGA	0.378																																																	3	Substitution - Missense(3)	large_intestine(3)											137	121	126					2																	179604014		1894	4118	6012	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12995A>T	2.37:g.179604014T>A	ENSP00000465570:p.Lys4332Met		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K4478M	ENST00000591111.1	37	c.13433		2	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146526	0.37923	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.46819	0.86;0.86;0.86	5.83	3.28	0.37604	.	.	.	.	.	T	0.44912	0.1316	M	0.67517	2.055	0.26126	N	0.98049	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.16289	0.015;0.015;0.015	T	0.43032	-0.9416	9	0.87932	D	0	.	7.801	0.29174	0.1235:0.0681:0.0:0.8084	.	4286;4411;4478	D3DPF9;E7EQE6;E7ET18	.;.;.	M	4286;4478;4411;4286	ENSP00000434586:K4286M;ENSP00000340554:K4478M;ENSP00000352154:K4411M	ENSP00000340554:K4478M	K	-	2	0	TTN	179312259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.447000	0.52936	2.236000	0.73375	0.533000	0.62120	AAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	112	0	T	NM_133378		179604014	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	39.77	53	35	SNP	1.000	A	A	179604014	T	A	179604014	3	1	49	1	0	0	0	0	1	0	0	0	16784	1609	56	5	90843	5	TTN	2	179604014	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	10939	179604014	63595359	38	11763											
ZNF804A	91752	genome.wustl.edu	37	chr2	185802592	185802592	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagattccaccccggattTgaaactttagaactcaaaga	14	9	8	10	1	1	4	1	1	0	3	2	5	2	5	3	2	2	1	3	2	4	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:185802592T>G	ENST00000302277.6	+	4	3063	c.2469T>G	c.(2467-2469)ttT>ttG	p.F823L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	823							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACCCCGGATTTGAAACTTTAG	0.383																																																	0													42	48	46					2																	185802592		2200	4299	6499	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2469T>G	2.37:g.185802592T>G	ENSP00000303252:p.Phe823Leu		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.F823L	ENST00000302277.6	37	c.2469	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	T	7.259	0.604810	0.14002	.	.	ENSG00000170396	ENST00000302277	T	0.06068	3.35	5.81	0.519	0.17035	.	1.012730	0.07917	N	0.975212	T	0.05318	0.0141	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.43261	-0.9402	10	0.41790	T	0.15	2.8162	7.7606	0.28951	0.0:0.0714:0.4127:0.5159	.	823	Q7Z570	Z804A_HUMAN	L	823	ENSP00000303252:F823L	ENSP00000303252:F823L	F	+	3	2	ZNF804A	185510837	0.000000	0.05858	0.001000	0.08648	0.249000	0.25844	-0.126000	0.10563	-0.125000	0.11703	0.533000	0.62120	TTT	ZNF804A	-	NULL	ENSG00000170396		0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	20	0	T	NM_194250		185802592	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.001	G	G	185802592	T	G	185802592	3	3	49	1	0	0	0	0	1	0	0	0	18218	1809	63	4	2483	4	ZNF804A	2	185802592	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	6198578	185802592	57396781	39	11764											
DNAH7	56171	genome.wustl.edu	37	chr2	196726626	196726626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacatttcaatttcttcCaagaatcgtgaggcaactgc	11	13	7	10	1	3	3	1	2	2	1	5	3	4	3	1	1	2	1	1	1	4	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:196726626C>A	ENST00000312428.6	-	42	7651	c.7551G>T	c.(7549-7551)ttG>ttT	p.L2517F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2517	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATTTCTTCCAAGAATCGTG	0.373																																																	0													110	103	105					2																	196726626		1877	4111	5988	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7551G>T	2.37:g.196726626C>A	ENSP00000311273:p.Leu2517Phe		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L2517F	ENST00000312428.6	37	c.7551	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989898	0.35131	.	.	ENSG00000118997	ENST00000312428	T	0.58358	0.34	5.87	0.509	0.16977	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.64402	D	0.000004	T	0.71039	0.3293	M	0.87097	2.86	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70525	-0.4848	10	0.51188	T	0.08	.	9.9662	0.41725	0.0:0.4397:0.0:0.5603	.	2517	Q8WXX0	DYH7_HUMAN	F	2517	ENSP00000311273:L2517F	ENSP00000311273:L2517F	L	-	3	2	DNAH7	196434871	1.000000	0.71417	0.989000	0.46669	0.015000	0.08874	1.939000	0.40213	0.065000	0.16485	-0.145000	0.13849	TTG	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	40	0	C	NM_018897		196726626	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	A	A	196726626	C	A	196726626	3	1	49	1	0	0	0	0	1	0	0	0	4620	593	21	3	4619	3	DNAH7	2	196726626	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	10924034	196726626	46472747	40	11765											
ERBB4	2066	genome.wustl.edu	37	chr2	212426722	212426722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggcagccatggggcataAgttgagtaaccagctggatg	12	7	14	8	0	0	1	0	1	0	0	0	2	0	2	2	4	3	5	2	4	2	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr2:212426722A>C	ENST00000342788.4	-	20	2703	c.2393T>G	c.(2392-2394)cTt>cGt	p.L798R	ERBB4_ENST00000436443.1_Missense_Mutation_p.L798R|ERBB4_ENST00000402597.1_Missense_Mutation_p.L788R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	798	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATGGGGCATAAGTTGAGTAAC	0.493										TSP Lung(8;0.080)																																							0													148	124	132					2																	212426722		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2393T>G	2.37:g.212426722A>C	ENSP00000342235:p.Leu798Arg		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L798R	ENST00000342788.4	37	c.2393	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539997	0.85917	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.65364	-0.15;-0.15;-0.15	5.12	5.12	0.69794	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82563	0.5064	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	D	0.86678	0.1915	10	0.87932	D	0	.	15.2321	0.73398	1.0:0.0:0.0:0.0	.	788;788;798;798	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	R	798;798;788	ENSP00000342235:L798R;ENSP00000403204:L798R;ENSP00000385565:L788R	ENSP00000342235:L798R	L	-	2	0	ERBB4	212134967	1.000000	0.71417	0.862000	0.33874	0.961000	0.63080	9.287000	0.95975	2.063000	0.61619	0.533000	0.62120	CTT	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178568		0.493	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0	56	0	A	NM_001042599		212426722	-1			no_errors	ENST00000342788	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.999	C	C	212426722	A	C	212426722	3	2	49	1	0	0	0	0	1	0	0	0	5225	72	3	4	1569	4	ERBB4	2	212426722	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	15700096	212426722	30772651	41	11766											
TGFBR2	7048	genome.wustl.edu	37	chr3	30691871	30691872	+	Frame_Shift_Ins	INS	-	-	A																															tccaaagtgcattatgaaggINSaaaaaaaaaagcctggtgag																								rs79375991		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:30691871_30691872insA	ENST00000295754.5	+	3	755_756	c.373_374insA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATTATGAAGGAAAAAAAAAAG	0.421																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)																																								SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.383dupA	3.37:g.30691881_30691881dupA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Ins	INS	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K154fs	ENST00000295754.5	37	c.448_449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.421	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0	46	0	-			30691872	1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_ins	11.76	30	4	INS	1.000:1.000	A	A	30691872	-	A	30691871	7	5	49	1	0	1	1	0	0	0	0	0	15869	1175	41	0	462	0	TGFBR2	3	30691871	Frame_Shift_Ins	INS	-	TCGA-L5-A43E-01A-11D-A247-09		30691871	167330559	42	11767											
SCN10A	6336	genome.wustl.edu	37	chr3	38739688	38739689	+	Frame_Shift_Ins	INS	-	-	C																															ttggggtcacagtaggggggINSccctgtgttgaggatggggc																								rs112795612		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:38739688_38739689insC	ENST00000449082.2	-	27	5021_5022	c.5022_5023insG	c.(5020-5025)gggcccfs	p.P1675fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1675					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGTAGGGGGGCCCTGTGTTGA	0.584																																																	0																																										SO:0001589	frameshift_variant	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5023dupG	3.37:g.38739691_38739691dupC	ENSP00000390600:p.Pro1675fs		A6NDQ1	Frame_Shift_Ins	INS	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.P1674fs	ENST00000449082.2	37	c.5023_5022	CCDS33736.1	3																																																																																			SCN10A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000185313		0.584	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3		0	63	0	-	NM_006514		38739689	-1	tier1		no_errors	ENST00000449082	ensembl	human	known	74_37	frame_shift_ins	24.32	28	9	INS	0.196:0.165	C	C	38739689	-	C	38739688	7	5	49	1	0	1	1	0	0	0	0	0	13957	1203	42	0	851	0	SCN10A	3	38739688	Frame_Shift_Ins	INS	-	TCGA-L5-A43E-01A-11D-A247-09	8047817	38739688	159282742	43	11768											
CSRNP1	64651	genome.wustl.edu	37	chr3	39187974	39187974	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggagtactcacgggtgAaacttctggggccgcagaag	10	6	17	8	2	2	2	1	1	1	1	2	4	2	4	1	5	2	2	1	5	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:39187974A>C	ENST00000273153.5	-	2	377	c.200T>G	c.(199-201)tTc>tGc	p.F67C	CSRNP1_ENST00000514182.1_Missense_Mutation_p.F67C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	67					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTCACGGGTGAAACTTCTGGG	0.582																																																	0													27	29	28					3																	39187974		2024	3881	5905	SO:0001583	missense	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.200T>G	3.37:g.39187974A>C	ENSP00000273153:p.Phe67Cys		Q69YY5	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.F67C	ENST00000273153.5	37	c.200	CCDS2682.1	3	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374810	0.42105	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.42131	0.98;0.98	3.78	1.29	0.21616	.	0.369881	0.27210	N	0.020416	T	0.52757	0.1754	M	0.71581	2.175	0.44852	D	0.997866	D	0.61697	0.99	P	0.58873	0.847	T	0.51244	-0.8730	10	0.72032	D	0.01	-9.0918	7.4585	0.27280	0.804:0.0:0.196:0.0	.	67	Q96S65	CSRN1_HUMAN	C	67	ENSP00000273153:F67C;ENSP00000422532:F67C	ENSP00000273153:F67C	F	-	2	0	CSRNP1	39162978	0.985000	0.35326	0.154000	0.22540	0.438000	0.31896	2.903000	0.48711	0.132000	0.18615	0.402000	0.26972	TTC	CSRNP1	-	NULL	ENSG00000144655		0.582	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	HGNC	protein_coding	OTTHUMT00000254061.1	-	0	39	0	A	NM_033027		39187974	-1	tier1	-	no_errors	ENST00000273153	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.748	C	C	39187974	A	C	39187974	3	2	49	1	0	0	0	0	1	0	0	0	3972	246	9	4	1585	4	CSRNP1	3	39187974	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	448286	39187974	158834456	44	11769											
KLHL18	23276	genome.wustl.edu	37	chr3	47371501	47371501	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacaatgatgtgtgctgtGctgtacgacgctgccaacag	10	9	13	9	2	0	2	0	1	0	1	0	4	0	2	1	0	5	4	1	0	3	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:47371501G>C	ENST00000232766.5	+	4	482	c.462G>C	c.(460-462)gtG>gtC	p.V154V	KLHL18_ENST00000455924.2_Silent_p.V42V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	154	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGTGTGCTGTGCTGTACGACG	0.498																																																	0													127	122	124					3																	47371501		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.462G>C	3.37:g.47371501G>C			A8K612|Q7Z3E8|Q8N125	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V154	ENST00000232766.5	37	c.462	CCDS33749.1	3																																																																																			KLHL18	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000114648		0.498	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	-	0	64	0	G	NM_025010		47371501	1	tier1	-	no_errors	ENST00000232766	ensembl	human	known	74_37	silent	17.86	23	5	SNP	1.000	C	C	47371501	G	C	47371501	2	2	49	1	0	0	0	0	0	0	0	1	8400	1306	46	5		5	KLHL18	3	47371501	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	8183527	47371501	150650929	45	11770											
OR5H14	403273	genome.wustl.edu	37	chr3	97868703	97868703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtcttcttcatgctttaatCcatgaaggatttttattcag	9	18	7	7	0	4	1	2	1	2	0	5	2	5	2	1	2	1	1	1	2	3	8	rs181133249		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:97868703C>G	ENST00000437310.1	+	1	534	c.474C>G	c.(472-474)atC>atG	p.I158M	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCTTTAATCCATGAAGGAT	0.353																																																	0													111	111	111					3																	97868703		2202	4300	6502	SO:0001583	missense	0				CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"GPCR / Class A : Olfactory receptors"	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.474C>G	3.37:g.97868703C>G	ENSP00000401706:p.Ile158Met		B9EH15	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I158M	ENST00000437310.1	37	c.474	CCDS33798.1	3	.	.	.	.	.	.	.	.	.	.	T	7.865	0.726947	0.15439	.	.	ENSG00000236032	ENST00000437310	T	0.38401	1.14	2.49	-0.549	0.11829	GPCR, rhodopsin-like superfamily (1);	0.851984	0.09987	N	0.730266	T	0.33702	0.0872	L	0.56124	1.755	0.09310	N	1	P	0.41159	0.74	P	0.44673	0.457	T	0.27054	-1.0085	10	0.56958	D	0.05	.	3.0868	0.06280	0.188:0.2983:0.0:0.5137	.	158	A6NHG9	O5H14_HUMAN	M	158	ENSP00000401706:I158M	ENSP00000401706:I158M	I	+	3	3	OR5H14	99351393	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-1.721000	0.01870	-0.162000	0.10964	-2.620000	0.00156	ATC	OR5H14	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000236032		0.353	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H14	HGNC	protein_coding	OTTHUMT00000359112.1	-	0	114	0	C			97868703	1	tier1	-	no_errors	ENST00000437310	ensembl	human	known	74_37	missense	52.81	42	47	SNP	0.000	G	G	97868703	C	G	97868703	3	3	49	1	0	0	0	0	1	0	0	0	11199	845	30	5	476	5	OR5H14	3	97868703	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	50497202	97868703	100153727	46	11771											
STXBP5L	9515	genome.wustl.edu	37	chr3	121137298	121137298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgggagagctgacccGtgcacggattgcacttgatg	8	9	16	8	2	0	4	0	3	0	1	0	6	0	5	1	3	3	3	1	3	0	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:121137298G>A	ENST00000273666.6	+	27	3684	c.3413G>A	c.(3412-3414)cGt>cAt	p.R1138H	STXBP5L_ENST00000471454.1_Missense_Mutation_p.R1114H	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1138	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGCTGACCCGTGCACGGATT	0.532																																																	0													62	69	66					3																	121137298		2051	4195	6246	SO:0001583	missense	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3413G>A	3.37:g.121137298G>A	ENSP00000273666:p.Arg1138His		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.R1138H	ENST00000273666.6	37	c.3413	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635322	0.67130	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.27256	1.68;1.68;1.75	5.59	4.7	0.59300	Synaptobrevin (1);	0.216802	0.39615	N	0.001315	T	0.38401	0.1039	M	0.82056	2.57	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.45506	0.483;0.483	T	0.48375	-0.9041	10	0.52906	T	0.07	-10.144	16.2727	0.82629	0.0:0.1328:0.8672:0.0	.	1114;1138	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	H	1138;1114;1081	ENSP00000273666:R1138H;ENSP00000420019:R1114H;ENSP00000420167:R1081H	ENSP00000273666:R1138H	R	+	2	0	STXBP5L	122619988	1.000000	0.71417	0.037000	0.18230	0.985000	0.73830	9.807000	0.99171	1.318000	0.45170	0.655000	0.94253	CGT	STXBP5L	-	pfscan_Synaptobrevin	ENSG00000145087		0.532	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	-	0	38	0	G			121137298	1	tier1	-	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.658	A	A	121137298	G	A	121137298	3	1	49	1	0	0	0	0	1	0	0	0	15404	1145	40	1	3515	1	STXBP5L	3	121137298	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	23268595	121137298	76885132	47	11772											
SEMA5B	54437	genome.wustl.edu	37	chr3	122647386	122647386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgctggtgcacatggggGaaaaggcattggttccacac	9	9	14	9	0	1	0	0	0	1	0	2	1	2	1	1	5	2	4	1	5	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:122647386G>T	ENST00000357599.3	-	7	1000	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	SEMA5B_ENST00000195173.4_Missense_Mutation_p.S205Y|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S259Y|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	205	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCACATGGGGGAAAAGGCATT	0.607																																																	0													59	45	50					3																	122647386		2201	4291	6492	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.614C>A	3.37:g.122647386G>T	ENSP00000350215:p.Ser205Tyr		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.S259Y	ENST00000357599.3	37	c.776	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104186	0.56291	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.345611	0.32273	N	0.006323	T	0.50188	0.1601	M	0.81239	2.535	0.38651	D	0.951844	D;D;D	0.64830	0.993;0.994;0.994	P;D;D	0.63597	0.782;0.916;0.916	T	0.56703	-0.7935	10	0.72032	D	0.01	.	13.2839	0.60232	0.0:0.0:0.8419:0.1581	.	147;205;205	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	Y	205;205;147;259;205	ENSP00000350215:S205Y;ENSP00000195173:S205Y;ENSP00000389588:S259Y;ENSP00000377208:S205Y	ENSP00000195173:S205Y	S	-	2	0	SEMA5B	124130076	1.000000	0.71417	0.998000	0.56505	0.561000	0.35649	3.387000	0.52501	2.804000	0.96469	0.462000	0.41574	TCC	SEMA5B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000082684		0.607	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	-	0	33	0	G	NM_001031702		122647386	-1	tier1	-	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.995	T	T	122647386	G	T	122647386	3	4	49	1	0	0	0	0	1	0	0	0	14083	1174	41	3	2909	3	SEMA5B	3	122647386	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	1510088	122647386	75375044	48	11773											
KALRN	8997	genome.wustl.edu	37	chr3	124420960	124420960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgagctgaatgaaattgGaaggtaatgacacagtttta	15	11	10	5	0	0	4	0	4	0	0	0	5	0	5	0	2	1	3	0	2	5	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:124420960G>A	ENST00000291478.5	+	24	3144	c.2981G>A	c.(2980-2982)gGa>gAa	p.G994E	KALRN_ENST00000428018.2_Missense_Mutation_p.G962E|KALRN_ENST00000360013.3_Missense_Mutation_p.G2691E	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2690					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATGAAATTGGAAGGTAATGA	0.363																																																	0													123	120	121					3																	124420960		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2981G>A	3.37:g.124420960G>A	ENSP00000291478:p.Gly994Glu		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.G2691E	ENST00000291478.5	37	c.8072	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.758209|4.758209	0.89843|0.89843	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000291478;ENST00000428018	.|D;D;D	.|0.82893	.|-1.66;-1.66;-1.66	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94381|0.94381	0.8193|0.8193	H|H	0.96489|0.96489	3.83|3.83	0.47245|0.47245	D|D	0.999369|0.999369	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.95608|0.95608	0.8669|0.8669	5|10	.|0.87932	.|D	.|0	.|.	19.3137|19.3137	0.94202|0.94202	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|994;2690	.|C9JQ37;O60229	.|.;KALRN_HUMAN	K|E	2660|2691;994;962	.|ENSP00000353109:G2691E;ENSP00000291478:G994E;ENSP00000402419:G962E	.|ENSP00000291478:G994E	E|G	+|+	1|2	0|0	KALRN|KALRN	125903650|125903650	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.993000|8.993000	0.93524|0.93524	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAA|GGA	KALRN	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160145		0.363	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	-	0	70	0	G	NM_003947		124420960	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	16.67	45	9	SNP	1.000	A	A	124420960	G	A	124420960	3	1	49	1	0	0	0	0	1	0	0	0	8002	1174	41	3	8454	3	KALRN	3	124420960	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	1773574	124420960	73601470	49	11774											
TRIM42	287015	genome.wustl.edu	37	chr3	140419756	140419756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccagatggacatgggaaGaaccgagctaagtggggcct	13	5	14	9	1	0	2	0	0	0	2	0	5	0	4	3	4	2	1	3	4	3	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:140419756G>T	ENST00000286349.3	+	5	2303	c.2112G>T	c.(2110-2112)aaG>aaT	p.K704N		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	704						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACATGGGAAGAACCGAGCTA	0.522																																																	0													149	125	133					3																	140419756		2203	4300	6503	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.2112G>T	3.37:g.140419756G>T	ENSP00000286349:p.Lys704Asn		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.K704N	ENST00000286349.3	37	c.2112	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176742	0.78564	.	.	ENSG00000155890	ENST00000286349	T	0.49432	0.78	5.91	5.03	0.67393	.	0.096812	0.45126	D	0.000393	T	0.50701	0.1631	N	0.19112	0.55	0.25793	N	0.984592	D	0.76494	0.999	D	0.80764	0.994	T	0.43814	-0.9368	10	0.87932	D	0	-7.5644	9.9942	0.41889	0.0888:0.0:0.9112:0.0	.	704	Q8IWZ5	TRI42_HUMAN	N	704	ENSP00000286349:K704N	ENSP00000286349:K704N	K	+	3	2	TRIM42	141902446	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.276000	0.51646	2.793000	0.96121	0.655000	0.94253	AAG	TRIM42	-	NULL	ENSG00000155890		0.522	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0	32	0	G	NM_152616		140419756	1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	T	T	140419756	G	T	140419756	3	4	49	1	0	0	0	0	1	0	0	0	16565	933	33	3	2130	3	TRIM42	3	140419756	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	15998796	140419756	57602674	50	11775											
ZIC4	84107	genome.wustl.edu	37	chr3	147113975	147113975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggctggcgcatgtagcGgaagaaagcgccaggaccgt	10	5	17	9	4	0	1	0	0	0	1	0	4	0	3	2	4	2	3	2	4	3	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:147113975G>A	ENST00000383075.3	-	3	864	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	ZIC4_ENST00000525172.2_Missense_Mutation_p.R168C|ZIC4_ENST00000484399.1_Missense_Mutation_p.R118C|ZIC4_ENST00000473123.1_Missense_Mutation_p.R118C|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.R156C	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	118						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCATGTAGCGGAAGAAAGCG	0.662																																																	0													32	38	36					3																	147113975		2199	4299	6498	SO:0001583	missense	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.352C>T	3.37:g.147113975G>A	ENSP00000372553:p.Arg118Cys		A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R168C	ENST00000383075.3	37	c.502	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.066753	0.93898	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	4.98	4.98	0.66077	.	0.000000	0.47093	D	0.000253	T	0.72203	0.3431	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.962;0.991	T	0.77744	-0.2473	10	0.87932	D	0	.	18.2471	0.89989	0.0:0.0:1.0:0.0	.	168;118	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	C	118;156;168;118;118;118	ENSP00000372553:R118C;ENSP00000397695:R156C;ENSP00000435509:R168C;ENSP00000417855:R118C;ENSP00000420775:R118C;ENSP00000420627:R118C	ENSP00000372553:R118C	R	-	1	0	ZIC4	148596665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.640000	0.83355	2.299000	0.77371	0.561000	0.74099	CGC	ZIC4	-	NULL	ENSG00000174963		0.662	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	-	0	18	0	G			147113975	-1	tier1	-	no_errors	ENST00000525172	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	A	A	147113975	G	A	147113975	3	1	49	1	0	0	0	0	1	0	0	0	17729	1116	39	1	664	1	ZIC4	3	147113975	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	6694219	147113975	50908455	51	11776											
GPR87	53836	genome.wustl.edu	37	chr3	151012365	151012365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatggctatgtaacatccGatcagaatcaccagcacggc	13	8	9	11	2	2	1	2	0	0	1	3	3	3	1	2	2	2	3	2	2	4	3	rs149315251		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:151012365G>A	ENST00000260843.4	-	3	1133	c.669C>T	c.(667-669)atC>atT	p.I223I	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	223					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTAACATCCGATCAGAATCA	0.463													G|||	1	0.000199681	0	0	5008	,	,		18895	0		0	False		,,,				2504	0.001																0								G	,	3,4403	6.2+/-15.9	0,3,2200	111	100	104		669,	-5.6	0.4	3	dbSNP_134	104	0,8600		0,0,4300	no	coding-synonymous,intron	GPR87,MED12L	NM_023915.3,NM_053002.4	,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,	223/359,	151012365	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.669C>T	3.37:g.151012365G>A			Q5KU35|Q96JZ8|Q9BXC2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.I223	ENST00000260843.4	37	c.669	CCDS3157.1	3																																																																																			GPR87	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000138271		0.463	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	HGNC	protein_coding	OTTHUMT00000357788.1	-	0	24	0	G			151012365	-1	tier1	rs149315251	no_errors	ENST00000260843	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.109	A	A	151012365	G	A	151012365	2	1	49	1	0	0	0	0	0	0	0	1	6742	1048	37	1		1	GPR87	3	151012365	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	3898390	151012365	47010065	52	11777											
GHSR	2693	genome.wustl.edu	37	chr3	172165868	172165868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtttgcagaggaggtcGccgaagttccagggccggta	10	7	16	8	3	0	2	0	0	0	2	2	4	1	3	3	4	1	4	3	4	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr3:172165868G>A	ENST00000241256.2	-	1	378	c.336C>T	c.(334-336)ggC>ggT	p.G112G	GHSR_ENST00000427970.1_Silent_p.G112G	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	112					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGAGGAGGTCGCCGAAGTTCC	0.597																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0													67	59	61					3																	172165868		2203	4300	6503	SO:0001819	synonymous_variant	0			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.336C>T	3.37:g.172165868G>A			Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn	p.G112	ENST00000241256.2	37	c.336	CCDS3218.1	3																																																																																			GHSR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121853		0.597	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1		0	19	0	G	NM_004122		172165868	-1			no_errors	ENST00000241256	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.982	A	A	172165868	G	A	172165868	2	1	49	1	0	0	0	0	0	0	0	1	6401	1074	38	1		1	GHSR	3	172165868	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	21153503	172165868	25856562	53	11778											
RGS12	6002	genome.wustl.edu	37	chr4	3417774	3417774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccaccccggtcaacatcGacagccaggcccagctagca	11	3	8	19	2	1	0	1	0	0	0	2	1	1	0	6	2	4	2	6	2	2	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:3417774G>A	ENST00000344733.5	+	7	3257	c.2353G>A	c.(2353-2355)Gac>Aac	p.D785N	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.D785N|RGS12_ENST00000306648.7_Missense_Mutation_p.D183N|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.D785N|RGS12_ENST00000338806.4_Missense_Mutation_p.D137N|RGS12_ENST00000538395.1_Missense_Mutation_p.D127N	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	785	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGTCAACATCGACAGCCAGGC	0.602																																																	0													72	62	66					4																	3417774		2203	4300	6503	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2353G>A	4.37:g.3417774G>A	ENSP00000339381:p.Asp785Asn		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.D785N	ENST00000344733.5	37	c.2353	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.587162	0.96578	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.02682	4.2;4.2;4.2;4.2;4.2;4.2	4.73	4.73	0.59995	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.105902	0.64402	D	0.000007	T	0.19446	0.0467	M	0.88775	2.98	0.80722	D	1	P;D;P;P;P;P;P	0.65815	0.937;0.995;0.897;0.807;0.937;0.751;0.707	P;D;P;P;P;P;P	0.74348	0.776;0.983;0.668;0.805;0.776;0.739;0.621	T	0.01956	-1.1240	10	0.87932	D	0	-31.4438	17.1317	0.86728	0.0:0.0:1.0:0.0	.	127;127;127;137;183;785;785	B7Z764;B7Z8B8;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;RGS12_HUMAN;.	N	785;785;785;183;137;127	ENSP00000339381:D785N;ENSP00000338509:D785N;ENSP00000372238:D785N;ENSP00000304459:D183N;ENSP00000342133:D137N;ENSP00000438888:D127N	ENSP00000304459:D183N	D	+	1	0	RGS12	3387572	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	9.493000	0.97960	2.356000	0.79943	0.650000	0.86243	GAC	RGS12	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000159788		0.602	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0	71	0	G	NM_002926		3417774	1	tier1	-	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	A	A	3417774	G	A	3417774	3	1	49	1	0	0	0	0	1	0	0	0	13340	1058	37	1	2433	1	RGS12	4	3417774	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		3417774	187736502	54	11779											
EVC	2121	genome.wustl.edu	37	chr4	5758076	5758076	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagccaccgaggctgtggTtgcactctgccaggtacatg	8	8	13	12	1	1	1	0	0	1	1	1	2	1	1	3	3	4	4	3	3	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:5758076T>G	ENST00000264956.6	+	11	1734	c.1550T>G	c.(1549-1551)gTt>gGt	p.V517G	EVC_ENST00000509451.1_Missense_Mutation_p.V517G|EVC_ENST00000382674.2_Missense_Mutation_p.V517G	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	517					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GAGGCTGTGGTTGCACTCTGC	0.587																																																	0													78	70	73					4																	5758076		2203	4300	6503	SO:0001583	missense	0			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1550T>G	4.37:g.5758076T>G	ENSP00000264956:p.Val517Gly			Missense_Mutation	SNP	NULL	p.V517G	ENST00000264956.6	37	c.1550	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	T	8.297	0.818992	0.16607	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.54279	0.58;0.58;0.6	5.12	0.228	0.15364	.	0.874123	0.10181	N	0.705879	T	0.35393	0.0930	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20907	-1.0261	10	0.33940	T	0.23	.	5.3439	0.15998	0.0:0.5205:0.1376:0.3419	.	517	P57679	EVC_HUMAN	G	517	ENSP00000264956:V517G;ENSP00000372120:V517G;ENSP00000426774:V517G	ENSP00000264956:V517G	V	+	2	0	EVC	5808977	0.009000	0.17119	0.000000	0.03702	0.000000	0.00434	0.658000	0.24979	-0.063000	0.13065	-1.090000	0.02178	GTT	EVC	-	NULL	ENSG00000072840		0.587	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	-	0	44	0	T			5758076	1	tier1	-	no_errors	ENST00000264956	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.000	G	G	5758076	T	G	5758076	3	3	49	1	0	0	0	0	1	0	0	0	5301	1725	60	4	1592	4	EVC	4	5758076	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	2340302	5758076	185396200	55	11780											
UNC5C	8633	genome.wustl.edu	37	chr4	96104172	96104172	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtgaaggtgcagtgcaggTttctttgagatccactccaa	10	11	12	8	0	1	2	0	2	1	1	3	4	3	2	2	2	2	3	2	2	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:96104172T>G	ENST00000453304.1	-	14	2675	c.2327A>C	c.(2326-2328)aAc>aCc	p.N776T		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	776					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCAGTGCAGGTTTCTTTGAGA	0.428																																																	0													159	142	148					4																	96104172		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2327A>C	4.37:g.96104172T>G	ENSP00000406022:p.Asn776Thr		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.N776T	ENST00000453304.1	37	c.2327	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	T	10.41	1.343179	0.24339	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.48522	0.81	5.83	3.34	0.38264	.	0.251039	0.43919	D	0.000513	T	0.25195	0.0612	N	0.10837	0.055	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.04065	-1.0980	10	0.20519	T	0.43	.	8.5907	0.33686	0.0:0.067:0.1305:0.8025	.	776	O95185	UNC5C_HUMAN	T	776;735	ENSP00000406022:N776T	ENSP00000328673:N735T	N	-	2	0	UNC5C	96323195	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.285000	0.33261	0.445000	0.26639	0.533000	0.62120	AAC	UNC5C	-	NULL	ENSG00000182168		0.428	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0	51	0	T	NM_003728		96104172	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.983	G	G	96104172	T	G	96104172	3	3	49	1	0	0	0	0	1	0	0	0	17042	1725	60	4	480	4	UNC5C	4	96104172	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	90346096	96104172	95050104	56	11781											
SEC24D	9871	genome.wustl.edu	37	chr4	119666217	119666218	+	Splice_Site	INS	-	-	A																															cccaggacagtctgctgcctINSaaaaaaaaaaaaaaacccaa																								rs78494615|rs35951660		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:119666217_119666218insA	ENST00000280551.6	-	14	1946		c.e14-2		SEC24D_ENST00000429811.2_Splice_Site|SEC24D_ENST00000379735.5_Splice_Site|SEC24D_ENST00000419654.2_Splice_Site|SEC24D_ENST00000511481.1_Splice_Site|SEC24D_ENST00000505134.1_Splice_Site			O94855	SC24D_HUMAN	SEC24 family member D						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTCTGCTGCCTAAAAAAAAAAA	0.381																																																	0																																										SO:0001630	splice_region_variant	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1708-2->T	4.37:g.119666228_119666228dupA			Q8IYI7	Splice_Site	INS	-	e13-2	ENST00000280551.6	37	c.1711-3_1711-2	CCDS3710.1	4																																																																																			SEC24D	-	-	ENSG00000150961		0.381	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4		0	19	0	-		Intron	119666218	-1	tier1		no_errors	ENST00000379735	ensembl	human	known	74_37	splice_site_ins	12.50	21	3	INS	1.000:0.975	A	A	119666218	-	A	119666217	8	5	49	1	0	1	1	0	0	0	1	0	14042	1536	53	0	1432	0	SEC24D	4	119666217	Splice_Site	INS	-	TCGA-L5-A43E-01A-11D-A247-09	23562045	119666217	71488059	57	11782											
PCDH10	57575	genome.wustl.edu	37	chr4	134072759	134072759	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctacgcggtgagcgccacCgaccgggatgagggcgccaa	9	4	15	13	6	1	2	0	2	1	0	1	4	1	3	4	3	2	0	4	3	2	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:134072759C>T	ENST00000264360.5	+	1	2290	c.1464C>T	c.(1462-1464)acC>acT	p.T488T	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	488	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGAGCGCCACCGACCGGGATG	0.582																																																	0													64	63	63					4																	134072759		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1464C>T	4.37:g.134072759C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T488	ENST00000264360.5	37	c.1464	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.582	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	35	0	C	NM_032961		134072759	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	38.89	22	14	SNP	0.427	T	T	134072759	C	T	134072759	2	4	49	1	0	0	0	0	0	0	0	1	11546	639	23	1		1	PCDH10	4	134072759	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	14406542	134072759	57081517	58	11783											
PCDH10	57575	genome.wustl.edu	37	chr4	134073022	134073022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcccctgccatcgtggCgcctctaccagggcgcaacg	7	5	11	18	5	1	0	0	0	1	0	2	0	1	0	5	2	4	1	5	2	3	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:134073022C>T	ENST00000264360.5	+	1	2553	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	576					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCATCGTGGCGCCTCTACCA	0.687																																																	0													27	32	31					4																	134073022		2118	4188	6306	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1727C>T	4.37:g.134073022C>T	ENSP00000264360:p.Ala576Val		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A576V	ENST00000264360.5	37	c.1727	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321507	0.60634	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.37752	1.18	4.5	4.5	0.54988	Cadherin-like (1);	0.000000	0.44902	D	0.000402	T	0.25419	0.0618	N	0.25825	0.765	0.47698	D	0.999491	P;B	0.51351	0.944;0.207	B;B	0.43251	0.413;0.042	T	0.01630	-1.1308	10	0.22109	T	0.4	.	11.0293	0.47763	0.0:0.753:0.247:0.0	.	576;576	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	576	ENSP00000264360:A576V	ENSP00000264360:A576V	A	+	2	0	PCDH10	134292472	0.911000	0.30947	1.000000	0.80357	0.560000	0.35617	1.020000	0.30027	2.325000	0.78763	0.655000	0.94253	GCG	PCDH10	-	superfamily_Cadherin-like	ENSG00000138650		0.687	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	24	0	C	NM_032961		134073022	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	25.00	14	5	SNP	1.000	T	T	134073022	C	T	134073022	3	4	49	1	0	0	0	0	1	0	0	0	11546	768	27	1	1729	1	PCDH10	4	134073022	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	263	134073022	57081254	59	11784											
LRBA	987	genome.wustl.edu	37	chr4	151817569	151817569	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcatagtcagtaggtaatTaagaatggcctgtaattcat	14	13	9	5	0	2	1	2	0	0	1	2	1	2	1	1	2	1	4	1	2	6	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:151817569T>A	ENST00000357115.3	-	16	2287	c.2044A>T	c.(2044-2046)Aat>Tat	p.N682Y	LRBA_ENST00000535741.1_Missense_Mutation_p.N682Y|LRBA_ENST00000507224.1_Missense_Mutation_p.N682Y|LRBA_ENST00000510413.1_Missense_Mutation_p.N682Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	682						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGTAGGTAATTAAGAATGGCC	0.244																																																	0													71	70	70					4																	151817569		2198	4285	6483	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2044A>T	4.37:g.151817569T>A	ENSP00000349629:p.Asn682Tyr		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.N682Y	ENST00000357115.3	37	c.2044	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408016	0.83340	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.83799	0.0235	10	0.72032	D	0.01	.	15.0827	0.72127	0.0:0.0:0.0:1.0	.	682;682	P50851;P50851-2	LRBA_HUMAN;.	Y	682	ENSP00000446299:N682Y;ENSP00000421552:N682Y;ENSP00000349629:N682Y;ENSP00000422180:N682Y	ENSP00000349629:N682Y	N	-	1	0	LRBA	152037019	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.755000	0.85180	2.004000	0.58718	0.482000	0.46254	AAT	LRBA	-	superfamily_ARM-type_fold	ENSG00000198589		0.244	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	68	0	T			151817569	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	24.24	50	16	SNP	1.000	A	A	151817569	T	A	151817569	3	1	49	1	0	0	0	0	1	0	0	0	8966	1754	61	5	6719	5	LRBA	4	151817569	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	17744547	151817569	39336707	60	11785											
TLR2	7097	genome.wustl.edu	37	chr4	154626073	154626073	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttcaatccccccttcaagTtgtgtcttcataagcgggac	9	12	7	13	1	4	0	3	0	1	0	5	1	5	1	3	1	1	1	3	1	3	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:154626073T>G	ENST00000260010.6	+	1	3422	c.2014T>G	c.(2014-2016)Ttg>Gtg	p.L672V		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	672	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CCCCTTCAAGTTGTGTCTTCA	0.453																																																	0													69	69	69					4																	154626073		2203	4300	6503	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.2014T>G	4.37:g.154626073T>G	ENSP00000260010:p.Leu672Val		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L672V	ENST00000260010.6	37	c.2014	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	T	11.68	1.710191	0.30322	.	.	ENSG00000137462	ENST00000260010	T	0.10668	2.85	5.5	-7.28	0.01456	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.163302	0.40818	N	0.001001	T	0.28632	0.0709	M	0.67569	2.06	0.29457	N	0.858054	D	0.61697	0.99	D	0.71414	0.973	T	0.46843	-0.9162	10	0.87932	D	0	.	24.1348	0.99988	0.0:0.8396:0.0:0.1604	.	672	O60603	TLR2_HUMAN	V	672	ENSP00000260010:L672V	ENSP00000260010:L672V	L	+	1	2	TLR2	154845523	0.000000	0.05858	0.014000	0.15608	0.969000	0.65631	-0.748000	0.04818	-1.576000	0.01652	-0.256000	0.11100	TTG	TLR2	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000137462		0.453	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1	-	0	109	0	T			154626073	1	tier1	-	no_errors	ENST00000260010	ensembl	human	known	74_37	missense	22.22	70	20	SNP	0.004	G	G	154626073	T	G	154626073	3	3	49	1	0	0	0	0	1	0	0	0	15998	1722	60	4	2016	4	TLR2	4	154626073	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	2808504	154626073	36528203	61	11786											
DCHS2	54798	genome.wustl.edu	37	chr4	155160394	155160394	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgttctcattgctttctaAgtctgtggctgacagagtca	9	15	9	8	0	4	2	2	1	3	1	5	2	4	2	0	1	1	3	0	1	2	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:155160394A>C	ENST00000357232.4	-	24	6054	c.6055T>G	c.(6055-6057)Tta>Gta	p.L2019V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2019	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGCTTTCTAAGTCTGTGGCT	0.378																																																	0													65	65	65					4																	155160394		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6055T>G	4.37:g.155160394A>C	ENSP00000349768:p.Leu2019Val		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L2019V	ENST00000357232.4	37	c.6055	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	A	4.868	0.161256	0.09287	.	.	ENSG00000197410	ENST00000357232	T	0.61627	0.09	5.82	-11.6	0.00059	Cadherin (4);Cadherin-like (1);	1.597620	0.04136	N	0.318827	T	0.36908	0.0984	L	0.41079	1.255	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.10405	-1.0631	10	0.24483	T	0.36	.	3.1431	0.06462	0.0936:0.2843:0.1825:0.4396	.	2019	Q6V1P9	PCD23_HUMAN	V	2019	ENSP00000349768:L2019V	ENSP00000349768:L2019V	L	-	1	2	DCHS2	155379844	0.000000	0.05858	0.001000	0.08648	0.299000	0.27559	-1.053000	0.03500	-3.260000	0.00202	-1.271000	0.01417	TTA	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.378	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	49	0	A	NM_001142552		155160394	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	40.74	32	22	SNP	0.000	C	C	155160394	A	C	155160394	3	2	49	1	0	0	0	0	1	0	0	0	4297	69	3	4	2703	4	DCHS2	4	155160394	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	534321	155160394	35993882	62	11787											
DCHS2	54798	genome.wustl.edu	37	chr4	155254358	155254358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctgtcttccgcacgtGcgaggtacaaggctgtgcca	6	11	12	12	3	2	0	0	0	2	0	4	1	3	0	2	2	3	3	2	2	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:155254358G>T	ENST00000357232.4	-	9	1504	c.1505C>A	c.(1504-1506)gCa>gAa	p.A502E	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.A1001E	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	502	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTCCGCACGTGCGAGGTACAA	0.602																																																	0													69	64	66					4																	155254358		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1505C>A	4.37:g.155254358G>T	ENSP00000349768:p.Ala502Glu		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A502E	ENST00000357232.4	37	c.1505	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136260	0.77662	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.52526	0.66;0.66	5.6	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.198922	0.33005	N	0.005383	T	0.66906	0.2837	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69161	-0.5218	10	0.59425	D	0.04	.	12.1397	0.53991	0.1008:0.0:0.8992:0.0	.	1001;502	E9PC11;Q6V1P9	.;PCD23_HUMAN	E	502;1001;1001	ENSP00000349768:A502E;ENSP00000345062:A1001E	ENSP00000345062:A1001E	A	-	2	0	DCHS2	155473808	1.000000	0.71417	0.018000	0.16275	0.618000	0.37518	4.158000	0.58150	1.109000	0.41680	0.563000	0.77884	GCA	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.602	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	49	0	G	NM_001142552		155254358	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	T	T	155254358	G	T	155254358	3	4	49	1	0	0	0	0	1	0	0	0	4297	1319	46	3	7409	3	DCHS2	4	155254358	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	93964	155254358	35899918	63	11788											
TRIML2	205860	genome.wustl.edu	37	chr4	189012589	189012589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggtgagggagtctggacTtgtgtctccatttgggatac	7	13	15	6	0	2	1	0	1	2	0	3	5	2	4	1	4	1	0	1	4	1	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr4:189012589T>C	ENST00000512729.1	-	7	1476	c.1102A>G	c.(1102-1104)Agt>Ggt	p.S368G	TRIML2_ENST00000326754.3_Missense_Mutation_p.S393G	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	368	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GAGTCTGGACTTGTGTCTCCA	0.473																																																	0													161	158	159					4																	189012589		2203	4300	6503	SO:0001583	missense	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.1102A>G	4.37:g.189012589T>C	ENSP00000422581:p.Ser368Gly		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.S368G	ENST00000512729.1	37	c.1102	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434771	0.43224	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.61274	0.12;0.12	5.85	1.84	0.25277	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	1.337120	0.04909	N	0.452848	T	0.55321	0.1913	L	0.57536	1.79	0.19300	N	0.999978	B;B	0.16166	0.006;0.016	B;B	0.12156	0.007;0.007	T	0.46693	-0.9173	10	0.72032	D	0.01	.	7.7949	0.29141	0.0:0.309:0.0:0.691	.	393;368	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	G	368;393	ENSP00000422581:S368G;ENSP00000317498:S393G	ENSP00000317498:S393G	S	-	1	0	TRIML2	189249583	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	0.492000	0.22435	0.131000	0.18576	0.533000	0.62120	AGT	TRIML2	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000179046		0.473	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0	57	0	T	NM_173553		189012589	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	23.40	36	11	SNP	0.002	C	C	189012589	T	C	189012589	3	2	49	1	0	0	0	0	1	0	0	0	16599	1609	56	4	65	4	TRIML2	4	189012589	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	33758231	189012589	2141687	64	11789											
FAM105A	54491	genome.wustl.edu	37	chr5	14608906	14608906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaagagaggaagtatgtGcaacacccttttttcagatg	13	11	9	8	0	2	2	2	0	0	2	2	4	2	3	1	1	2	2	1	1	4	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:14608906G>T	ENST00000274217.3	+	7	797	c.677G>T	c.(676-678)tGc>tTc	p.C226F		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	226	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GGAAGTATGTGCAACACCCTT	0.328																																																	0													78	78	78					5																	14608906		2203	4300	6503	SO:0001583	missense	0				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"OTU domain containing"	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.677G>T	5.37:g.14608906G>T	ENSP00000274217:p.Cys226Phe		Q53H50|Q9H037	Missense_Mutation	SNP	prints_FAM105,prints_FAM105A	p.C226F	ENST00000274217.3	37	c.677	CCDS3884.1	5	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249652	0.39797	.	.	ENSG00000145569	ENST00000274217	T	0.18016	2.24	4.89	4.01	0.46588	.	0.146987	0.48286	D	0.000190	T	0.38612	0.1047	M	0.66939	2.045	0.44447	D	0.997376	D	0.89917	1.0	D	0.85130	0.997	T	0.13845	-1.0494	10	0.52906	T	0.07	-18.1564	12.8898	0.58066	0.0796:0.0:0.9204:0.0	.	226	Q9NUU6	F105A_HUMAN	F	226	ENSP00000274217:C226F	ENSP00000274217:C226F	C	+	2	0	FAM105A	14661906	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.241000	0.78201	1.037000	0.40024	0.585000	0.79938	TGC	FAM105A	-	prints_FAM105,prints_FAM105A	ENSG00000145569		0.328	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1		0	36	0	G	NM_019018		14608906	1			no_errors	ENST00000274217	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	14608906	G	T	14608906	3	4	49	1	0	0	0	0	1	0	0	0	5406	1319	46	3	703	3	FAM105A	5	14608906	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		14608906	166306354	65	11790											
CDH12	1010	genome.wustl.edu	37	chr5	21752212	21752212	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcagagccccgatgtcGaaagcctgggtatcttcctc	7	12	9	13	2	2	1	1	0	2	1	6	3	3	1	4	1	2	1	4	1	2	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:21752212G>A	ENST00000382254.1	-	15	3105	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Silent_p.F633F|CDH12_ENST00000504376.2_Silent_p.F673F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	673					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCCCGATGTCGAAAGCCTGGG	0.463										HNSCC(59;0.17)																																							0													122	109	113					5																	21752212		2203	4300	6503	SO:0001819	synonymous_variant	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2019C>T	5.37:g.21752212G>A			B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F673	ENST00000382254.1	37	c.2019	CCDS3890.1	5																																																																																			CDH12	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000154162		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	121	0	G	NM_004061		21752212	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	silent	13.83	81	13	SNP	0.997	A	A	21752212	G	A	21752212	2	1	49	1	0	0	0	0	0	0	0	1	3105	1049	37	1		1	CDH12	5	21752212	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	7143306	21752212	159163048	66	11791											
DDX4	54514	genome.wustl.edu	37	chr5	55081694	55081694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatgatgcaccaccagcaAttctggtcagtgtattaatt	12	12	8	9	0	2	1	1	1	1	0	2	2	2	1	2	1	2	3	2	1	3	4	rs2305123	byFrequency	TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:55081694A>G	ENST00000505374.1	+	13	951	c.859A>G	c.(859-861)Att>Gtt	p.I287V	DDX4_ENST00000354991.5_Missense_Mutation_p.I253V|DDX4_ENST00000353507.5_Missense_Mutation_p.I253V|DDX4_ENST00000511853.1_Missense_Mutation_p.I138V|DDX4_ENST00000514278.2_Missense_Mutation_p.I267V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	287			I -> V (in dbSNP:rs2305123).		male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACCACCAGCAATTCTGGTCAG	0.373													A|||	498	0.0994409	0.0287	0.1167	5008	,	,		19275	0.1617		0.1252	False		,,,				2504	0.092																0								A	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	203,4203	125.3+/-162.5	8,187,2008	82	71	75		757,799,412,859	5	1	5	dbSNP_100	75	1025,7575	219.7+/-257.6	57,911,3332	yes	missense,missense,missense,missense	DDX4	NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2	29,29,29,29	65,1098,5340	GG,GA,AA		11.9186,4.6074,9.4418	benign,benign,benign,benign	253/691,267/705,138/576,287/725	55081694	1228,11778	2203	4300	6503	SO:0001583	missense	0			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.859A>G	5.37:g.55081694A>G	ENSP00000424838:p.Ile287Val		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I287V	ENST00000505374.1	37	c.859	CCDS3969.1	5	234	0.10714285714285714	20	0.04065040650406504	34	0.09392265193370165	76	0.13286713286713286	104	0.13720316622691292	A	16.14	3.039979	0.55003	0.046074	0.119186	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000354991;ENST00000511853	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.03	5.03	0.67393	.	0.060251	0.64402	D	0.000007	T	0.00271	0.0008	L	0.45285	1.41	0.09310	P	0.9999999851068	B;B;B;B	0.32862	0.057;0.116;0.115;0.387	B;B;B;B	0.32624	0.123;0.083;0.149;0.117	T	0.13388	-1.0511	9	0.59425	D	0.04	-14.6095	10.7067	0.45958	0.8486:0.0:0.0:0.1514	rs2305123;rs52819192;rs2305123	267;138;253;287	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	V	253;267;287;267;253;138	ENSP00000334167:I253V;ENSP00000425359:I267V;ENSP00000424838:I287V;ENSP00000427167:I267V;ENSP00000347087:I253V;ENSP00000423123:I138V	ENSP00000334167:I253V	I	+	1	0	DDX4	55117451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.827000	0.55745	1.905000	0.55150	0.533000	0.62120	ATT	DDX4	-	superfamily_P-loop_NTPase	ENSG00000152670		0.373	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2		0	53	0	A	NM_024415		55081694	1			no_errors	ENST00000505374	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	G	G	55081694	A	G	55081694	3	3	49	1	0	0	0	0	1	0	0	0	4369	101	4	4	946	4	DDX4	5	55081694	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	33329482	55081694	125833566	67	11792											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101735341	101735341	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagcaatgaacaaaggtaActtatagcactttgcatcac	18	9	6	8	0	1	1	1	1	0	0	1	1	1	1	0	1	5	4	0	1	8	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:101735341A>C	ENST00000506729.1	-	10	1903	c.1732T>G	c.(1732-1734)Tta>Gta	p.L578V	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.L516V|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.L325V|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.L578V|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.L325V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	578						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AACAAAGGTAACTTATAGCAC	0.363																																																	0													113	108	110					5																	101735341		2203	4300	6503	SO:0001583	missense	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1732T>G	5.37:g.101735341A>C	ENSP00000421339:p.Leu578Val		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L578V	ENST00000506729.1	37	c.1732	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	A	10.68	1.417973	0.25552	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.42	3.05	0.35203	Major facilitator superfamily domain, general substrate transporter (1);	0.117510	0.36555	N	0.002536	T	0.50922	0.1644	M	0.73962	2.25	0.38090	D	0.936936	P;P;P	0.52061	0.736;0.95;0.816	B;P;P	0.54706	0.275;0.759;0.5	T	0.52946	-0.8507	10	0.51188	T	0.08	.	5.3806	0.16189	0.7334:0.1777:0.0889:0.0	.	516;325;578	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	V	578;578;516;325;325	ENSP00000421339:L578V;ENSP00000369135:L578V;ENSP00000373671:L516V;ENSP00000421990:L325V;ENSP00000369138:L325V	ENSP00000369135:L578V	L	-	1	2	SLCO6A1	101763240	0.156000	0.22821	0.870000	0.34147	0.055000	0.15305	0.457000	0.21875	0.495000	0.27882	-0.291000	0.09656	TTA	SLCO6A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000205359		0.363	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	-	0	61	0	A	NM_173488		101735341	-1	tier1	-	no_errors	ENST00000379807	ensembl	human	known	74_37	missense	54.29	16	19	SNP	0.954	C	C	101735341	A	C	101735341	3	2	49	1	0	0	0	0	1	0	0	0	14777	40	2	4	443	4	SLCO6A1	5	101735341	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	46653647	101735341	79179919	68	11793											
WDR36	134430	genome.wustl.edu	37	chr5	110428069	110428069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgcagctctggcagaGgactgttccactagacacgc	8	9	12	12	1	2	2	0	0	2	2	3	3	3	3	1	2	2	4	1	2	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:110428069G>T	ENST00000513710.2	+	1	87	c.83G>T	c.(82-84)aGg>aTg	p.R28M	WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000506538.2_Missense_Mutation_p.R28M|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	28					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.R28M(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTCTGGCAGAGGACTGTTCCA	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)											70	77	75					5																	110428069		2202	4300	6502	SO:0001583	missense	0			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.83G>T	5.37:g.110428069G>T	ENSP00000424628:p.Arg28Met		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R28M	ENST00000513710.2	37	c.83	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371547	0.24771	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.68331	-0.32;-0.32	4.7	-1.8	0.07907	.	3.081050	0.01024	N	0.004035	T	0.45458	0.1343	N	0.08118	0	0.20196	N	0.999924	B	0.22683	0.073	B	0.25987	0.065	T	0.33624	-0.9861	10	0.87932	D	0	12.6157	2.0688	0.03609	0.1991:0.0992:0.3944:0.3072	.	28	Q8NI36	WDR36_HUMAN	M	28	ENSP00000423067:R28M;ENSP00000424628:R28M	ENSP00000423067:R28M	R	+	2	0	WDR36	110455968	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.650000	0.24858	-0.854000	0.04131	-1.944000	0.00493	AGG	WDR36	-	NULL	ENSG00000134987		0.597	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3		0	48	0	G	NM_139281		110428069	1			no_errors	ENST00000506538	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T	T	110428069	G	T	110428069	3	4	49	1	0	0	0	0	1	0	0	0	17339	1000	35	3	85	3	WDR36	5	110428069	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	8692728	110428069	70487191	69	11794											
AQPEP	206338	genome.wustl.edu	37	chr5	115298820	115298820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccgggcactgggaacgCcacagtgggccgcgtgcccg	5	5	15	16	5	0	0	0	0	0	0	1	1	1	1	5	3	2	1	5	3	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:115298820C>T	ENST00000357872.4	+	1	630	c.506C>T	c.(505-507)gCc>gTc	p.A169V	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		169						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										ACTGGGAACGCCACAGTGGGC	0.667																																																	0													22	24	23					5																	115298820		2201	4298	6499	SO:0001583	missense	0																														ENST00000357872.4:c.506C>T	5.37:g.115298820C>T	ENSP00000350541:p.Ala169Val		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A169V	ENST00000357872.4	37	c.506	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	C	6.171	0.399770	0.11696	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.02498	4.27	4.78	1.45	0.22620	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	1.470270	0.04496	N	0.380433	T	0.03783	0.0107	L	0.38733	1.17	0.09310	N	0.999997	B	0.28470	0.213	B	0.31390	0.129	T	0.47849	-0.9085	10	0.30854	T	0.27	.	7.6976	0.28604	0.3309:0.5241:0.1449:0.0	.	169	Q6Q4G3	AMPQ_HUMAN	V	169;158	ENSP00000350541:A169V	ENSP00000350541:A169V	A	+	2	0	AC010282.1	115326719	0.000000	0.05858	0.005000	0.12908	0.027000	0.11550	-0.199000	0.09491	0.401000	0.25424	0.655000	0.94253	GCC	AQPEP	-	pfam_Peptidase_M1_N	ENSG00000172901		0.667	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1	-	0	15	0	C			115298820	1	tier1	-	no_errors	ENST00000357872	ensembl	human	known	74_37	missense	66.67	2	4	SNP	0.001	T	T	115298820	C	T	115298820	3	4	49	1	0	0	0	0	1	0	0	0	834	739	26	3	508	3	AQPEP	5	115298820	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	4870751	115298820	65616440	70	11795											
AQPEP	206338	genome.wustl.edu	37	chr5	115336817	115336817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaataaaaaacataatGgacagttggacacaccagag	20	5	8	8	0	0	1	0	0	0	1	0	3	0	3	1	2	2	2	1	2	6	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:115336817G>T	ENST00000357872.4	+	10	1825	c.1701G>T	c.(1699-1701)atG>atT	p.M567I	AQPEP_ENST00000395528.2_Missense_Mutation_p.M84I	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		567						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAAACATAATGGACAGTTGGA	0.378																																																	0													106	106	106					5																	115336817		2202	4300	6502	SO:0001583	missense	0																														ENST00000357872.4:c.1701G>T	5.37:g.115336817G>T	ENSP00000350541:p.Met567Ile		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.M567I	ENST00000357872.4	37	c.1701	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503891	0.85176	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	T;T	0.05199	3.48;3.48	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	M	0.85462	2.755	0.50813	D	0.999891	D	0.76494	0.999	D	0.80764	0.994	T	0.01476	-1.1345	10	0.87932	D	0	.	19.4349	0.94788	0.0:0.0:1.0:0.0	.	567	Q6Q4G3	AMPQ_HUMAN	I	84;567;556	ENSP00000378899:M84I;ENSP00000350541:M567I	ENSP00000350541:M567I	M	+	3	0	AC010282.1	115364716	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.183000	0.77697	2.894000	0.99253	0.655000	0.94253	ATG	AQPEP	-	NULL	ENSG00000172901		0.378	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1		0	64	0	G			115336817	1			no_errors	ENST00000357872	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	115336817	G	T	115336817	3	4	49	1	0	0	0	0	1	0	0	0	834	1348	47	3	1739	3	AQPEP	5	115336817	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	37997	115336817	65578443	71	11796											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147040774	147040774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcactgctgccgtcgcGgagagcacagagagcagact	9	8	13	11	3	1	3	1	0	0	3	2	5	1	3	1	1	4	3	1	1	0	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr5:147040774G>A	ENST00000265272.5	-	3	831	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R122C|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R80C	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	122						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCGTCGCGGAGAGCACAG	0.557																																																	0													136	133	134					5																	147040774		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.364C>T	5.37:g.147040774G>A	ENSP00000265272:p.Arg122Cys		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.R122C	ENST00000265272.5	37	c.364	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420010	0.42918	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.09350	2.99;2.99;2.99	4.67	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.998;0.998	D;P;P;P	0.76575	0.988;0.649;0.649;0.649	T	0.02901	-1.1096	10	0.87932	D	0	.	12.4018	0.55418	0.0:0.0:0.7172:0.2828	.	80;122;122;122	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	C	122;122;80;122	ENSP00000421398:R122C;ENSP00000265272:R122C;ENSP00000328989:R80C	ENSP00000265272:R122C	R	-	1	0	JAKMIP2	147020967	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	4.485000	0.60279	2.529000	0.85273	0.563000	0.77884	CGC	JAKMIP2	-	NULL	ENSG00000176049		0.557	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	59	0	G	NM_014790		147040774	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	61.70	18	29	SNP	1.000	A	A	147040774	G	A	147040774	3	1	49	1	0	0	0	0	1	0	0	0	7968	1116	39	1	2144	1	JAKMIP2	5	147040774	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	31703957	147040774	33874486	72	11797											
TNXB	7148	genome.wustl.edu	37	chr6	32038011	32038011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggggtgacagtgacagagCgctcatggccctccacgggc	8	5	16	12	2	1	3	1	2	0	1	2	4	2	3	2	4	1	1	2	4	0	0	rs371138982		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:32038011C>T	ENST00000375244.3	-	14	5372	c.5171G>A	c.(5170-5172)cGc>cAc	p.R1724H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1724H			P22105	TENX_HUMAN	tenascin XB	1806	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTGACAGAGCGCTCATGGCC	0.632																																																	0								C	HIS/ARG	1,3899		0,1,1949	27	30	29		5171	2.3	0	6		29	0,8302		0,0,4151	no	missense	TNXB	NM_019105.6	29	0,1,6100	TT,TC,CC		0.0,0.0256,0.0082	probably-damaging	1724/4243	32038011	1,12201	1950	4151	6101	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5171G>A	6.37:g.32038011C>T	ENSP00000364393:p.Arg1724His		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R1724H	ENST00000375244.3	37	c.5171		6	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732003	0.30684	2.56E-4	0.0	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04758	3.56;3.56	5.15	2.3	0.28687	.	0.696518	0.12971	N	0.424145	T	0.02083	0.0065	M	0.80028	2.48	0.09310	N	1	B	0.26775	0.159	B	0.23716	0.048	T	0.46762	-0.9168	10	0.20519	T	0.43	.	5.1818	0.15163	0.148:0.6282:0.143:0.0808	.	1724	P22105-3	.	H	1724	ENSP00000364393:R1724H;ENSP00000364396:R1724H	ENSP00000364393:R1724H	R	-	2	0	TNXB	32145989	0.975000	0.34042	0.011000	0.14972	0.056000	0.15407	0.840000	0.27600	0.160000	0.19432	0.561000	0.74099	CGC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	40	0	C	NM_019105		32038011	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.001	T	T	32038011	C	T	32038011	3	4	49	1	0	0	0	0	1	0	0	0	16393	768	27	1	9666	1	TNXB	6	32038011	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		32038011	139077056	73	11798											
MDGA1	266727	genome.wustl.edu	37	chr6	37626179	37626179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgaggcgctacctgccGtcttggtccaccgtacctgg	4	10	12	15	4	1	0	0	0	1	0	3	1	3	0	6	3	3	2	6	3	2	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:37626179G>A	ENST00000434837.3	-	3	1402	c.224C>T	c.(223-225)aCg>aTg	p.T75M	MDGA1_ENST00000505425.1_Missense_Mutation_p.T75M|MDGA1_ENST00000297153.7_Missense_Mutation_p.T75M	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	75	Ig-like 1.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCTACCTGCCGTCTTGGTCCA	0.662																																																	0													65	73	70					6																	37626179		2087	4195	6282	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.224C>T	6.37:g.37626179G>A	ENSP00000402584:p.Thr75Met		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.T75M	ENST00000434837.3	37	c.224	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080311	0.76528	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437;ENST00000508399	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000108	T	0.34395	0.0896	L	0.28504	0.86	0.80722	D	1	D	0.76494	0.999	D	0.63703	0.917	T	0.15752	-1.0426	10	0.66056	D	0.02	.	18.1335	0.89609	0.0:0.0:1.0:0.0	.	75	Q8NFP4	MDGA1_HUMAN	M	75;75;75;19;19	ENSP00000402584:T75M;ENSP00000297153:T75M;ENSP00000422042:T75M;ENSP00000421510:T19M;ENSP00000427645:T19M	ENSP00000297153:T75M	T	-	2	0	MDGA1	37734157	1.000000	0.71417	0.955000	0.39395	0.366000	0.29705	9.869000	0.99810	2.596000	0.87737	0.655000	0.94253	ACG	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.662	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	76	0	G			37626179	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	A	A	37626179	G	A	37626179	3	1	49	1	0	0	0	0	1	0	0	0	9444	1145	40	1	2703	1	MDGA1	6	37626179	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	5588168	37626179	133488888	74	11799											
SUPT3H	8464	genome.wustl.edu	37	chr6	44900481	44900481	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatcgctgtgagcctcaAcaccacaggctgcagtgctc	8	8	11	14	1	1	1	1	1	0	0	3	1	1	1	2	2	4	5	2	2	1	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:44900481A>C	ENST00000371459.1	-	10	986	c.821T>G	c.(820-822)gTt>gGt	p.V274G	SUPT3H_ENST00000371461.2_Missense_Mutation_p.V285G|SUPT3H_ENST00000306867.5_Missense_Mutation_p.V274G|SUPT3H_ENST00000371460.1_Missense_Mutation_p.V285G|SUPT3H_ENST00000371458.1_Missense_Mutation_p.V57G	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	356					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GTGAGCCTCAACACCACAGGC	0.458																																																	0													76	59	65					6																	44900481		2203	4300	6503	SO:0001583	missense	0			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"suppressor of Ty (S.cerevisiae) 3 homolog"			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.821T>G	6.37:g.44900481A>C	ENSP00000360514:p.Val274Gly		A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	pfam_TFIID-18,superfamily_Histone-fold	p.V285G	ENST00000371459.1	37	c.854	CCDS34465.1	6	.	.	.	.	.	.	.	.	.	.	A	9.205	1.029402	0.19512	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000371458;ENST00000306867;ENST00000371461	T;T;T;T;T	0.49720	0.84;0.87;0.77;0.87;0.84	5.43	5.43	0.79202	.	0.307048	0.33691	N	0.004641	T	0.18923	0.0454	L	0.43152	1.355	0.48185	D	0.999605	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.0	T	0.12993	-1.0526	10	0.19147	T	0.46	.	6.7539	0.23501	0.7695:0.1542:0.0764:0.0	.	285;356	O75486-3;O75486	.;SUPT3_HUMAN	G	285;274;57;274;285	ENSP00000360515:V285G;ENSP00000360514:V274G;ENSP00000360513:V57G;ENSP00000306718:V274G;ENSP00000360516:V285G	ENSP00000306718:V274G	V	-	2	0	SUPT3H	45008459	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	1.845000	0.39279	2.061000	0.61500	0.533000	0.62120	GTT	SUPT3H	-	NULL	ENSG00000196284		0.458	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT3H	HGNC	protein_coding	OTTHUMT00000106911.2	-	0	17	0	A	NM_181356		44900481	-1	tier1	-	no_errors	ENST00000371460	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.982	C	C	44900481	A	C	44900481	3	2	49	1	0	0	0	0	1	0	0	0	15444	43	2	4	140	4	SUPT3H	6	44900481	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	7274302	44900481	126214586	75	11800											
GPR110	266977	genome.wustl.edu	37	chr6	46976809	46976809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggctcttccccacgcGgatgatggtggccttgtcat	6	10	14	11	2	2	1	1	1	1	0	3	4	3	3	3	5	0	1	3	5	0	2	rs368956326		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:46976809G>T	ENST00000371253.2	-	11	2577	c.2362C>A	c.(2362-2364)Cgc>Agc	p.R788S	GPR110_ENST00000283297.5_Missense_Mutation_p.R591S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	788					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TTCCCCACGCGGATGATGGTG	0.552																																																	0													67	69	68					6																	46976809		2203	4300	6503	SO:0001583	missense	0			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"-", "GPCR / Class B : Orphans"	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2362C>A	6.37:g.46976809G>T	ENSP00000360299:p.Arg788Ser		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.R788S	ENST00000371253.2	37	c.2362	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610783	0.66558	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.44881	0.91;0.91	5.9	5.9	0.94986	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000010	T	0.47525	0.1450	L	0.42245	1.32	0.47065	D	0.999306	D	0.89917	1.0	D	0.74674	0.984	T	0.10109	-1.0644	10	0.16420	T	0.52	-21.031	20.2789	0.98501	0.0:0.0:1.0:0.0	.	788	Q5T601	GP110_HUMAN	S	788;591	ENSP00000360299:R788S;ENSP00000283297:R591S	ENSP00000283297:R591S	R	-	1	0	GPR110	47084768	1.000000	0.71417	0.987000	0.45799	0.503000	0.33858	7.013000	0.76373	2.788000	0.95919	0.650000	0.86243	CGC	GPR110	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_Ig-hepta_rcpt	ENSG00000153292		0.552	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	-	0	72	0	G	NM_153840		46976809	-1	tier1	-	no_errors	ENST00000371253	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	46976809	G	T	46976809	3	4	49	1	0	0	0	0	1	0	0	0	6653	1116	39	2	390	2	GPR110	6	46976809	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	2076328	46976809	124138258	76	11801											
PKHD1	5314	genome.wustl.edu	37	chr6	51893046	51893046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctccaggccccaagcCgactgtgtgtgaaccggagc	8	5	12	16	2	0	1	0	1	0	0	1	3	1	2	7	2	3	0	7	2	2	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:51893046C>T	ENST00000371117.3	-	30	3743	c.3468G>A	c.(3466-3468)tcG>tcA	p.S1156S	PKHD1_ENST00000340994.4_Silent_p.S1156S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1156	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCCAAGCCGACTGTGTGT	0.572																																																	0													120	128	125					6																	51893046		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3468G>A	6.37:g.51893046C>T			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.S1156	ENST00000371117.3	37	c.3468	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Ig_E-set,smart_IPT	ENSG00000170927		0.572	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0	36	0	C	NM_138694		51893046	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.000	T	T	51893046	C	T	51893046	2	4	49	1	0	0	0	0	0	0	0	1	12010	639	23	1		1	PKHD1	6	51893046	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	4916237	51893046	119222021	77	11802											
EYS	346007	genome.wustl.edu	37	chr6	65523282	65523282	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatactgacctgcagtcaaaAgtatgtccaggcccatcaac	14	8	7	12	0	2	1	2	1	0	0	3	1	3	1	3	1	3	2	3	1	6	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:65523282A>G	ENST00000370621.3	-	22	3958	c.3432T>C	c.(3430-3432)acT>acC	p.T1144T	EYS_ENST00000370616.2_Silent_p.T1144T|EYS_ENST00000503581.1_Silent_p.T1144T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1144	EGF-like 19. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGCAGTCAAAAGTATGTCCAG	0.368																																																	0													128	106	112					6																	65523282		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3432T>C	6.37:g.65523282A>G			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T1144	ENST00000370621.3	37	c.3432		6																																																																																			EYS	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.368	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	19	0	A	XM_294050		65523282	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	46.15	7	6	SNP	0.000	G	G	65523282	A	G	65523282	2	3	49	1	0	0	0	0	0	0	0	1	5348	59	3	4		4	EYS	6	65523282	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	13630236	65523282	105591785	78	11803											
EYS	346007	genome.wustl.edu	37	chr6	66115232	66115232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaaagcagagaaacacaAggttttgctgacacctcaca	18	6	7	10	0	1	2	1	1	0	1	1	3	1	2	1	1	3	3	1	1	5	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:66115232A>G	ENST00000370621.3	-	6	1417	c.891T>C	c.(889-891)ccT>ccC	p.P297P	EYS_ENST00000370616.2_Silent_p.P297P|EYS_ENST00000503581.1_Silent_p.P297P|EYS_ENST00000370618.3_Silent_p.P297P|EYS_ENST00000393380.2_Silent_p.P297P|EYS_ENST00000342421.5_Silent_p.P297P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	297					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAGAAACACAAGGTTTTGCTG	0.363																																																	0													129	133	132					6																	66115232		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.891T>C	6.37:g.66115232A>G			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.P297	ENST00000370621.3	37	c.891		6																																																																																			EYS	-	NULL	ENSG00000188107		0.363	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	38	0	A	XM_294050		66115232	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.000	G	G	66115232	A	G	66115232	2	3	49	1	0	0	0	0	0	0	0	1	5348	59	3	4		4	EYS	6	66115232	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	591950	66115232	104999835	79	11804											
ANKRD6	22881	genome.wustl.edu	37	chr6	90312804	90312804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaacacggagatcatcgcGgcgctcatccacgaagggtg	10	5	15	11	5	2	1	2	0	0	1	4	4	3	2	1	4	1	1	1	4	2	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:90312804G>A	ENST00000522441.1	+	4	917	c.276G>A	c.(274-276)gcG>gcA	p.A92A	ANKRD6_ENST00000339746.4_Silent_p.A92A|ANKRD6_ENST00000369408.5_Silent_p.A92A|ANKRD6_ENST00000485637.1_Silent_p.A92A|ANKRD6_ENST00000520793.1_Silent_p.A92A|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000447838.2_Silent_p.A92A	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	92					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		AGATCATCGCGGCGCTCATCC	0.617																																																	0													41	48	45					6																	90312804		2100	4207	6307	SO:0001819	synonymous_variant	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.276G>A	6.37:g.90312804G>A			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A92	ENST00000522441.1	37	c.276	CCDS56441.1	6																																																																																			ANKRD6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000135299		0.617	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	-	0	17	0	G			90312804	1	tier1	-	no_errors	ENST00000339746	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.003	A	A	90312804	G	A	90312804	2	1	49	1	0	0	0	0	0	0	0	1	685	1103	39	1		1	ANKRD6	6	90312804	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	24197572	90312804	80802263	80	11805											
FAM184A	79632	genome.wustl.edu	37	chr6	119296289	119296292	+	Frame_Shift_Del	DEL	CCTC	CCTC	-																															attctcatgaaggtgctgaaCctccttatccaattcagaga																								rs369621266		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	CCTC	CCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:119296289_119296292delCCTC	ENST00000338891.7	-	13	3108_3111	c.2665_2668delGAGG	c.(2665-2670)gaggttfs	p.EV889fs	FAM184A_ENST00000368475.4_Frame_Shift_Del_p.EV769fs|FAM184A_ENST00000352896.5_Frame_Shift_Del_p.EV769fs|FAM184A_ENST00000521531.1_Frame_Shift_Del_p.EV889fs|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	889						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AGGTGCTGAACCTCCTTATCCAAT	0.363																																																	0																																										SO:0001589	frameshift_variant	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2665_2668delGAGG	6.37:g.119296289_119296292delCCTC	ENSP00000342604:p.Glu889fs		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.E889fs	ENST00000338891.7	37	c.2668_2665	CCDS43499.1	6																																																																																			FAM184A	-	NULL	ENSG00000111879		0.363	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3		0	72	0	CCTC	NM_024581		119296292	-1			no_errors	ENST00000338891	ensembl	human	known	74_37	frame_shift_del	8.00	46	4	DEL	0.999:1.000:1.000:1.000	0	-	119296292	CCTC	-	119296289	7	5	49	1	0	1	0	1	0	0	0	0	5530	507	18	0	778	0	FAM184A	6	119296289	Frame_Shift_Del	DEL	CCTC	TCGA-L5-A43E-01A-11D-A247-09	28983485	119296289	51818778	81	11806											
VIP	7432	genome.wustl.edu	37	chr6	153076475	153076475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtcaactttctgccaaaaAgtaccttgagtctcttatgg	10	13	9	9	0	3	1	1	1	2	0	4	1	3	1	2	2	3	1	2	2	5	4	rs571217593	byFrequency	TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr6:153076475A>C	ENST00000367244.3	+	4	474	c.302A>C	c.(301-303)aAg>aCg	p.K101T	VIP_ENST00000367243.3_Missense_Mutation_p.K101T	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	101					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TCTGCCAAAAAGTACCTTGAG	0.313																																																	0													63	64	63					6																	153076475		2203	4300	6503	SO:0001583	missense	0				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.302A>C	6.37:g.153076475A>C	ENSP00000356213:p.Lys101Thr		Q5TCY8|Q5TCY9|Q96QK3	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.K101T	ENST00000367244.3	37	c.302	CCDS5240.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.095092|4.095092	0.76870|0.76870	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000431366|ENST00000367244;ENST00000367243	T|T;T	0.44083|0.39056	0.93|1.1;1.1	6.06|6.06	4.88|4.88	0.63580|0.63580	.|Glucagon/GIP/secretin/VIP (3);	0.139603|0.139603	0.64402|0.64402	D|D	0.000005|0.000005	T|T	0.50429|0.50429	0.1615|0.1615	M|M	0.84846|0.84846	2.72|2.72	0.36970|0.36970	D|D	0.893762|0.893762	.|D;D;D	.|0.71674	.|0.992;0.991;0.998	.|D;P;D	.|0.74023	.|0.912;0.798;0.982	T|T	0.61768|0.61768	-0.6995|-0.6995	8|10	0.72032|0.72032	D|D	0.01|0.01	.|.	3.3824|3.3824	0.07259|0.07259	0.6558:0.0:0.1658:0.1784|0.6558:0.0:0.1658:0.1784	.|.	.|101;101;101	.|A8K7E4;P01282-2;P01282	.|.;.;VIP_HUMAN	N|T	50|101	ENSP00000410356:K50N|ENSP00000356213:K101T;ENSP00000356212:K101T	ENSP00000410356:K50N|ENSP00000356212:K101T	K|K	+|+	3|2	2|0	VIP|VIP	153118168|153118168	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.950000|0.950000	0.60333|0.60333	3.243000|3.243000	0.51392|0.51392	1.087000|1.087000	0.41251|0.41251	0.533000|0.533000	0.62120|0.62120	AAA|AAG	VIP	-	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	ENSG00000146469		0.313	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1	-	0	63	0	A			153076475	1	tier1	-	no_errors	ENST00000367244	ensembl	human	known	74_37	missense	59.26	22	32	SNP	1.000	C	C	153076475	A	C	153076475	3	2	49	1	0	0	0	0	1	0	0	0	17216	72	3	4	312	4	VIP	6	153076475	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	33780186	153076475	18038592	82	11807											
KIAA0415	9907	genome.wustl.edu	37	chr7	4823399	4823399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggctcccacactccggCggcttcttctccacgcccag	6	7	9	19	3	2	0	0	0	2	0	5	0	4	0	4	3	0	2	4	3	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:4823399C>T	ENST00000348624.4	+	5	685	c.591C>T	c.(589-591)ggC>ggT	p.G197G	AP5Z1_ENST00000401897.1_Silent_p.G197G	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	197					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CACACTCCGGCGGCTTCTTCT	0.662																																																	0													7	9	9					7																	4823399		1886	3933	5819	SO:0001819	synonymous_variant	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.591C>T	7.37:g.4823399C>T			Q8N3X2|Q96H80	Silent	SNP	NULL	p.G197	ENST00000348624.4	37	c.591	CCDS47528.1	7																																																																																			AP5Z1	-	NULL	ENSG00000242802		0.662	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1	-	0	78	0	C			4823399	1	tier1	-	no_errors	ENST00000348624	ensembl	human	known	74_37	silent	16.98	44	9	SNP	0.854	T	T	4823399	C	T	4823399	2	4	49	1	0	0	0	0	0	0	0	1	8202	755	27	1		1	KIAA0415	7	4823399	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		4823399	154315264	83	11808											
AUTS2	26053	genome.wustl.edu	37	chr7	70231114	70231114	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccagagcaagacatcttgCgacaggaactgaacactcgt	13	8	9	11	2	1	3	0	1	1	2	3	5	2	4	1	1	4	1	1	1	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:70231114C>T	ENST00000342771.4	+	9	1804	c.1483C>T	c.(1483-1485)Cga>Tga	p.R495*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.R495*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	495										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGACATCTTGCGACAGGAACT	0.582																																																	0													131	127	128					7																	70231114		2203	4300	6503	SO:0001587	stop_gained	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1483C>T	7.37:g.70231114C>T	ENSP00000344087:p.Arg495*		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	prints_AUTS2	p.R495*	ENST00000342771.4	37	c.1483	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.088503	0.97271	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	.	.	.	5.77	4.87	0.63330	.	0.114328	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.7214	13.5519	0.61736	0.2921:0.7079:0.0:0.0	.	.	.	.	X	495	.	.	R	+	1	2	AUTS2	69869050	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.508000	0.53378	1.378000	0.46305	0.561000	0.74099	CGA	AUTS2	-	NULL	ENSG00000158321		0.582	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0	61	0	C			70231114	1	tier1	-	no_errors	ENST00000342771	ensembl	human	known	74_37	nonsense	13.64	57	9	SNP	1.000	T	T	70231114	C	T	70231114	4	4	49	1	0	0	0	0	0	1	0	0	1226	760	27	1	1662	1	AUTS2	7	70231114	Nonsense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	65407715	70231114	88907549	84	11809											
PCLO	27445	genome.wustl.edu	37	chr7	82580702	82580702	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtcctggtggtggtgtcaTtcttgctgtggaatactgtg	4	15	16	6	0	2	0	1	0	1	0	3	1	3	1	1	5	2	1	1	5	2	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:82580702T>G	ENST00000333891.9	-	6	9539	c.9202A>C	c.(9202-9204)Atg>Ctg	p.M3068L	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.M3068L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGTGTCATTCTTGCTGTG	0.453																																																	0													102	97	99					7																	82580702		1926	4134	6060	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9202A>C	7.37:g.82580702T>G	ENSP00000334319:p.Met3068Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.M3068L	ENST00000333891.9	37	c.9202	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	9.938	1.216821	0.22373	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.14766	2.48;2.48	5.37	5.37	0.77165	.	.	.	.	.	T	0.25344	0.0616	L	0.29908	0.895	0.80722	D	1	P;P;P	0.43024	0.518;0.798;0.798	P;P;P	0.60236	0.456;0.871;0.871	T	0.01684	-1.1296	9	0.87932	D	0	.	15.0315	0.71710	0.0:0.0:0.0:1.0	.	2999;3068;3068	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	2999;3068;3068	ENSP00000334319:M3068L;ENSP00000388393:M3068L	ENSP00000334319:M3068L	M	-	1	0	PCLO	82418638	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.958000	0.63660	2.041000	0.60428	0.460000	0.39030	ATG	PCLO	-	NULL	ENSG00000186472		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	151	0	T	NM_014510		82580702	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	52.98	78	89	SNP	1.000	G	G	82580702	T	G	82580702	3	3	49	1	0	0	0	0	1	0	0	0	11622	1493	52	4	6323	4	PCLO	7	82580702	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	12349588	82580702	76557961	85	11810											
PCLO	27445	genome.wustl.edu	37	chr7	82584392	82584392	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtacgtgtcttctactaaAgattcataaatataatcctc	13	16	4	8	1	3	1	1	0	2	1	5	1	4	1	1	0	2	1	1	0	8	9			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:82584392A>C	ENST00000333891.9	-	5	6214	c.5877T>G	c.(5875-5877)tcT>tcG	p.S1959S	PCLO_ENST00000423517.2_Silent_p.S1959S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTACTAAAGATTCATAAA	0.378																																																	0													86	86	86					7																	82584392		1844	4094	5938	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5877T>G	7.37:g.82584392A>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S1959	ENST00000333891.9	37	c.5877	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.378	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	80	0	A	NM_014510		82584392	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	19.32	71	17	SNP	0.980	C	C	82584392	A	C	82584392	2	2	49	1	0	0	0	0	0	0	0	1	11622	59	3	4		4	PCLO	7	82584392	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	3690	82584392	76554271	86	11811											
LHFPL3	375612	genome.wustl.edu	37	chr7	103969419	103969419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctactggataggcgacggCgtggacaccccgcaagccgg	8	4	14	15	5	0	0	0	0	0	0	0	3	0	2	4	5	2	1	4	5	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:103969419C>T	ENST00000401970.2	+	1	272	c.150C>T	c.(148-150)ggC>ggT	p.G50G	LHFPL3_ENST00000543266.1_Silent_p.G64G|LHFPL3_ENST00000424859.1_Silent_p.G50G|LHFPL3_ENST00000535008.1_Silent_p.G64G			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	64						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(6)	9						TAGGCGACGGCGTGGACACCC	0.622																																																	0													61	74	69					7																	103969419		2178	4292	6470	SO:0001819	synonymous_variant	0			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"lipoma HMGIC fusion partner-like 4"	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000401970.2:c.150C>T	7.37:g.103969419C>T			A1L383|A4D0Q5	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.G64	ENST00000401970.2	37	c.192		7																																																																																			LHFPL3	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000187416		0.622	LHFPL3-002	PUTATIVE	basic|appris_principal	protein_coding	LHFPL3	HGNC	protein_coding	OTTHUMT00000348284.1	-	0	38	0	C	NM_199000		103969419	1	tier1	-	no_errors	ENST00000535008	ensembl	human	known	74_37	silent	30.00	28	12	SNP	1.000	T	T	103969419	C	T	103969419	2	4	49	1	0	0	0	0	0	0	0	1	8795	755	27	1		1	LHFPL3	7	103969419	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	21385027	103969419	55169244	87	11812											
NRCAM	4897	genome.wustl.edu	37	chr7	107866669	107866669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaatcaccttcacaGaaataggttgcttctgctgt	11	13	7	10	0	3	2	2	1	1	1	3	2	3	2	2	1	3	3	2	1	4	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:107866669G>T	ENST00000425651.2	-	6	703	c.704C>A	c.(703-705)tCt>tAt	p.S235Y	NRCAM_ENST00000351718.4_Missense_Mutation_p.S229Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.S235Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.S235Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.S235Y|NRCAM_ENST00000379028.3_Missense_Mutation_p.S235Y	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	235	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CACCTTCACAGAAATAGGTTG	0.368																																																	0													127	132	130					7																	107866669		2203	4300	6503	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.704C>A	7.37:g.107866669G>T	ENSP00000401244:p.Ser235Tyr		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S235Y	ENST00000425651.2	37	c.704	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297822	0.81025	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.69435	0.21;0.49;0.22;0.29;0.21;0.27;-0.4	5.66	5.66	0.87406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104008	0.64402	D	0.000002	T	0.80969	0.4726	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D;P	0.76494	0.993;0.999;0.988;0.993;0.681	P;D;P;P;B	0.76071	0.905;0.987;0.805;0.905;0.282	T	0.79492	-0.1781	10	0.49607	T	0.09	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	235;235;235;229;235	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Y	235;235;235;235;229;235;235;235;229;229	ENSP00000368314:S235Y;ENSP00000407858:S235Y;ENSP00000325269:S229Y;ENSP00000368310:S235Y;ENSP00000401244:S235Y;ENSP00000368308:S235Y;ENSP00000390421:S229Y	ENSP00000325269:S229Y	S	-	2	0	NRCAM	107653905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.809000	0.86057	2.831000	0.97527	0.650000	0.86243	TCT	NRCAM	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000091129		0.368	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	-	0	76	0	G	NM_001037132		107866669	-1	tier1	-	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	107866669	G	T	107866669	3	4	49	1	0	0	0	0	1	0	0	0	10683	942	33	3	3340	3	NRCAM	7	107866669	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	3897250	107866669	51271994	88	11813											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113519553	113519553	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagattgtttggaaattttTtctttgtttttcattaacac	10	22	5	4	0	2	1	1	0	1	1	2	2	2	2	0	1	1	2	0	1	3	10			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:113519553T>G	ENST00000284601.3	-	4	1662	c.1594A>C	c.(1594-1596)Aaa>Caa	p.K532Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	532					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGAAATTTTTTCTTTGTTTT	0.353																																																	0													82	76	78					7																	113519553		2203	4300	6503	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1594A>C	7.37:g.113519553T>G	ENSP00000284601:p.Lys532Gln		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.K532Q	ENST00000284601.3	37	c.1594	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109380	0.37242	.	.	ENSG00000154415	ENST00000284601	T	0.18657	2.2	5.84	1.75	0.24633	.	0.907276	0.09517	N	0.791462	T	0.21509	0.0518	M	0.64997	1.995	0.09310	N	1	P	0.46277	0.875	B	0.39706	0.307	T	0.17379	-1.0371	10	0.66056	D	0.02	-0.4168	6.8357	0.23935	0.0:0.1504:0.1299:0.7197	.	532	Q16821	PPR3A_HUMAN	Q	532	ENSP00000284601:K532Q	ENSP00000284601:K532Q	K	-	1	0	PPP1R3A	113306789	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	0.170000	0.16663	0.464000	0.27142	-0.316000	0.08728	AAA	PPP1R3A	-	NULL	ENSG00000154415		0.353	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0	50	0	T	NM_002711		113519553	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	15.52	49	9	SNP	0.000	G	G	113519553	T	G	113519553	3	3	49	1	0	0	0	0	1	0	0	0	12413	1850	64	4	1778	4	PPP1R3A	7	113519553	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	5652884	113519553	45619110	89	11814											
ASB15	142685	genome.wustl.edu	37	chr7	123269135	123269135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgtttctaataatgacGttcattgcacagaagtcctt	10	15	8	8	2	2	2	1	1	1	1	3	2	3	2	1	1	1	3	1	1	3	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:123269135G>A	ENST00000451558.1	+	12	1608	c.1087G>A	c.(1087-1089)Gtt>Att	p.V363I	ASB15_ENST00000451215.1_Missense_Mutation_p.V363I|ASB15_ENST00000540573.1_Missense_Mutation_p.V363I|ASB15_ENST00000275699.3_Missense_Mutation_p.V363I|ASB15_ENST00000434204.1_Missense_Mutation_p.V363I			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	363					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TAATAATGACGTTCATTGCAC	0.438																																																	0													144	129	134					7																	123269135		2203	4300	6503	SO:0001583	missense	0			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1087G>A	7.37:g.123269135G>A	ENSP00000397655:p.Val363Ile		Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.V363I	ENST00000451558.1	37	c.1087	CCDS34742.1	7	.	.	.	.	.	.	.	.	.	.	G	0.797	-0.756933	0.03019	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	6.17	4.96	0.65561	Ankyrin repeat-containing domain (4);	0.142946	0.48767	N	0.000163	T	0.37544	0.1007	N	0.13003	0.285	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.28870	-1.0030	10	0.02654	T	1	-8.4562	8.4844	0.33063	0.8367:0.0:0.1633:0.0	.	363	Q8WXK1	ASB15_HUMAN	I	363;363;363;363;152;363	ENSP00000397655:V363I;ENSP00000390963:V363I;ENSP00000416433:V363I;ENSP00000438643:V363I;ENSP00000275699:V363I	ENSP00000275699:V363I	V	+	1	0	ASB15	123056371	0.653000	0.27358	0.221000	0.23827	0.206000	0.24218	2.010000	0.40913	1.058000	0.40530	-0.345000	0.07892	GTT	ASB15	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000146809		0.438	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	-	0	57	0	G			123269135	1	tier1	-	no_errors	ENST00000275699	ensembl	human	known	74_37	missense	42.70	51	38	SNP	0.235	A	A	123269135	G	A	123269135	3	1	49	1	0	0	0	0	1	0	0	0	1020	1145	40	1	1113	1	ASB15	7	123269135	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	9749582	123269135	35869528	90	11815											
DGKI	9162	genome.wustl.edu	37	chr7	137255970	137255970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatataaccatcatcatgaCgctgaggttcgaaatcatgg	14	10	8	9	2	3	2	3	2	0	0	4	3	3	2	1	2	1	2	1	2	4	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:137255970C>T	ENST00000288490.5	-	19	1898	c.1898G>A	c.(1897-1899)cGt>cAt	p.R633H	DGKI_ENST00000446122.1_Missense_Mutation_p.R633H|DGKI_ENST00000424189.2_Missense_Mutation_p.R633H|DGKI_ENST00000453654.2_Missense_Mutation_p.R333H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	633					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCATCATGACGCTGAGGTTC	0.388																																																	0													91	90	90					7																	137255970		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1898G>A	7.37:g.137255970C>T	ENSP00000288490:p.Arg633His		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R633H	ENST00000288490.5	37	c.1898	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.420506	0.96111	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.30448	1.53;1.53;1.53	6.08	6.08	0.98989	Diacylglycerol kinase, accessory domain (2);	0.051922	0.85682	D	0.000000	T	0.52677	0.1749	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.44528	-0.9322	10	0.62326	D	0.03	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	333;633	E9PFX6;O75912	.;DGKI_HUMAN	H	333;581;633;633;633	ENSP00000392161:R333H;ENSP00000288490:R633H;ENSP00000399131:R633H	ENSP00000288490:R633H	R	-	2	0	DGKI	136906510	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.292000	0.78731	2.894000	0.99253	0.655000	0.94253	CGT	DGKI	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000157680		0.388	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	74	0	C	NM_004717		137255970	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	9.72	65	7	SNP	1.000	T	T	137255970	C	T	137255970	3	4	49	1	0	0	0	0	1	0	0	0	4485	536	19	1	1363	1	DGKI	7	137255970	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	13986835	137255970	21882693	91	11816											
DENND2A	27147	genome.wustl.edu	37	chr7	140273781	140273781	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctctgaattttgtcGgaaaaaagcaggtttggaca	11	12	9	9	1	1	1	0	1	1	0	4	3	2	3	2	3	1	2	2	3	4	3	rs372731585		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:140273781G>A	ENST00000275884.6	-	5	1690	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	DENND2A_ENST00000537639.1_Nonsense_Mutation_p.R425*|DENND2A_ENST00000492720.1_Nonsense_Mutation_p.R425*|DENND2A_ENST00000496613.1_Nonsense_Mutation_p.R425*			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	425					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAATTTTGTCGGAAAAAAGCA	0.493																																																	0								G	stop/ARG	0,3740		0,0,1870	144	144	144		1273	3	1	7		144	1,8211		0,1,4105	no	stop-gained	DENND2A	NM_015689.3		0,1,5975	AA,AG,GG		0.0122,0.0,0.0084		425/1010	140273781	1,11951	1870	4106	5976	SO:0001587	stop_gained	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1273C>T	7.37:g.140273781G>A	ENSP00000275884:p.Arg425*		C9JUI3|Q1RMD5|Q86XY0	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R425*	ENST00000275884.6	37	c.1273	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	G	38	6.882455	0.97908	0.0	1.22E-4	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000475837	.	.	.	4.86	3.0	0.34707	.	0.135828	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.9928	5.6154	0.17428	0.0751:0.1395:0.6409:0.1445	.	.	.	.	X	425;425;425;425;48	.	ENSP00000275884:R425X	R	-	1	2	DENND2A	139920250	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.031000	0.41117	0.732000	0.32470	0.313000	0.20887	CGA	DENND2A	-	NULL	ENSG00000146966		0.493	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1		0	55	0	G	NM_015689		140273781	-1			no_errors	ENST00000275884	ensembl	human	known	74_37	nonsense	22.78	61	18	SNP	1.000	A	A	140273781	G	A	140273781	4	1	49	1	0	0	0	0	0	1	0	0	4443	1124	39	1	1816	1	DENND2A	7	140273781	Nonsense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	3017811	140273781	18864882	92	11817											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147675017	147675017	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccaagtggtggttggAgatactgaccgtcaaggctc	9	9	15	8	1	1	3	1	2	0	1	2	4	1	3	2	4	2	2	2	4	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr7:147675017A>T	ENST00000361727.3	+	15	2835	c.2319A>T	c.(2317-2319)ggA>ggT	p.G773G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	773	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGTGGTTGGAGATACTGACC	0.488										HNSCC(39;0.1)																																							0													143	126	132					7																	147675017		2203	4300	6503	SO:0001819	synonymous_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2319A>T	7.37:g.147675017A>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G773	ENST00000361727.3	37	c.2319	CCDS5889.1	7																																																																																			CNTNAP2	-	NULL	ENSG00000174469		0.488	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0	57	0	A			147675017	1	tier1	-	no_errors	ENST00000361727	ensembl	human	known	74_37	silent	57.69	33	45	SNP	0.999	T	T	147675017	A	T	147675017	2	4	49	1	0	0	0	0	0	0	0	1	3654	291	11	5		5	CNTNAP2	7	147675017	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	7401236	147675017	11463646	93	11818											
XKR5	389610	genome.wustl.edu	37	chr8	6668759	6668759	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcttcatctgttccctgCagctgcagtccgtttggata	5	15	9	12	1	2	0	1	0	1	0	4	1	4	1	2	1	4	6	2	1	1	5	rs545052803		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:6668759C>A	ENST00000518724.1	-	0	2172							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CTGTTCCCTGCAGCTGCAGTC	0.537													C|||	1	0.000199681	8e-04	0	5008	,	,		21288	0		0	False		,,,				2504	0																0													55	51	52					8																	6668759		692	1591	2283			0			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6668759C>A			Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-	ENSG00000186530		0.537	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	-	0	52	0	C	NM_207411		6668759	-1	tier1	-	no_errors	ENST00000405979	ensembl	human	known	74_37	rna	23.19	53	16	SNP	0.000	A	A	6668759	C	A	6668759	1	1	49	0	1	0	0	0	0	0	0	0	17483	710	25	3		3	XKR5	8	6668759	RNA	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		6668759	139695263	94	11819											
TEX15	56154	genome.wustl.edu	37	chr8	30704421	30704421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttatatgaggtcacaaattCttcacaaagcatgttttcat	13	15	5	8	0	4	1	3	1	1	0	4	1	4	1	0	1	1	2	0	1	4	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:30704421C>T	ENST00000256246.2	-	1	2187	c.2113G>A	c.(2113-2115)Gaa>Aaa	p.E705K	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	705					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E705K(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTCACAAATTCTTCACAAAGC	0.373																																																	1	Substitution - Missense(1)	cervix(1)											93	84	87					8																	30704421		2203	4299	6502	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2113G>A	8.37:g.30704421C>T	ENSP00000256246:p.Glu705Lys			Missense_Mutation	SNP	NULL	p.E705K	ENST00000256246.2	37	c.2113	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458393	0.84317	.	.	ENSG00000133863	ENST00000256246	T	0.23552	1.9	5.78	5.78	0.91487	.	0.303416	0.28176	N	0.016315	T	0.40297	0.1111	L	0.36672	1.1	0.29900	N	0.824446	D	0.71674	0.998	D	0.65233	0.933	T	0.29088	-1.0023	10	0.87932	D	0	.	15.5121	0.75793	0.0:1.0:0.0:0.0	.	705	Q9BXT5	TEX15_HUMAN	K	705	ENSP00000256246:E705K	ENSP00000256246:E705K	E	-	1	0	TEX15	30823963	0.926000	0.31397	0.329000	0.25429	0.002000	0.02628	2.902000	0.48703	2.731000	0.93534	0.655000	0.94253	GAA	TEX15	-	NULL	ENSG00000133863		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	-	0	54	0	C			30704421	-1	tier1	-	no_errors	ENST00000256246	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.557	T	T	30704421	C	T	30704421	3	4	49	1	0	0	0	0	1	0	0	0	15826	922	32	3	6272	3	TEX15	8	30704421	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	24035662	30704421	115659601	95	11820											
NRG1	3084	genome.wustl.edu	37	chr8	32607094	32607094	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagcatcttgggattgAatttatgggtatggaccaat	11	12	13	5	0	1	2	0	1	1	1	1	4	1	4	1	4	1	3	1	4	4	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:32607094A>T	ENST00000405005.3	+	8	700				NRG1_ENST00000519301.1_Missense_Mutation_p.E181V|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523681.1_3'UTR|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000356819.4_Missense_Mutation_p.E236V|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287845.5_Missense_Mutation_p.E202V|NRG1_ENST00000539990.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTGGGATTGAATTTATGGGT	0.378																																																	0													163	161	162					8																	32607094		2203	4300	6503	SO:0001627	intron_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.701-4796A>T	8.37:g.32607094A>T			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.E236V	ENST00000405005.3	37	c.707	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298455	0.81025	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000356819;ENST00000287845;ENST00000518084	T;T;T;T;T	0.79141	-1.1;-1.24;-0.89;-0.82;-0.83	5.59	5.59	0.84812	.	.	.	.	.	D	0.86522	0.5953	M	0.62723	1.935	0.80722	D	1	B;P;D;P	0.89917	0.277;0.679;1.0;0.785	B;B;D;B	0.87578	0.175;0.246;0.998;0.428	D	0.87911	0.2697	9	0.87932	D	0	.	15.7861	0.78304	1.0:0.0:0.0:0.0	.	202;236;239;236	F8W9E3;Q7RTW4;Q02297-2;Q02297-6	.;.;.;.	V	198;181;304;236;202;82	ENSP00000430053:E198V;ENSP00000429582:E181V;ENSP00000429067:E304V;ENSP00000349275:E236V;ENSP00000287845:E202V	ENSP00000287845:E202V	E	+	2	0	NRG1	32726636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.423000	0.80229	2.134000	0.65973	0.528000	0.53228	GAA	NRG1	-	NULL	ENSG00000157168		0.378	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	58	0	A			32607094	1	tier1	-	no_errors	ENST00000356819	ensembl	human	known	74_37	missense	33.33	52	26	SNP	1.000	T	T	32607094	A	T	32607094	1	4	49	0	1	0	0	0	0	0	0	0	10686	246	9	5		5	NRG1	8	32607094	Intron	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	1902673	32607094	113756928	96	11821											
UNC5D	137970	genome.wustl.edu	37	chr8	35606063	35606063	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccagtcagatggctcTgaggtgctcctgagtcctga	7	10	12	12	0	2	4	1	3	1	1	5	4	5	4	4	2	2	2	4	2	0	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:35606063T>C	ENST00000404895.2	+	12	2113	c.1785T>C	c.(1783-1785)tcT>tcC	p.S595S	UNC5D_ENST00000453357.2_Silent_p.S590S|UNC5D_ENST00000449677.1_Silent_p.S171S|UNC5D_ENST00000420357.1_Silent_p.S528S|UNC5D_ENST00000416672.1_Silent_p.S600S|UNC5D_ENST00000287272.2_Silent_p.S526S	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	595	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAGATGGCTCTGAGGTGCTCC	0.488																																																	0													140	120	127					8																	35606063		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1785T>C	8.37:g.35606063T>C			Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.S595	ENST00000404895.2	37	c.1785	CCDS6093.2	8																																																																																			UNC5D	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000156687		0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	111	0	T			35606063	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	silent	31.20	86	39	SNP	0.002	C	C	35606063	T	C	35606063	2	2	49	1	0	0	0	0	0	0	0	1	17044	1567	55	4		4	UNC5D	8	35606063	Silent	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	2998969	35606063	110757959	97	11822											
SFRP1	6422	genome.wustl.edu	37	chr8	41166258	41166258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaactgcatgaccggctCgcacgagtcgcgcacggcct	9	5	13	14	6	0	2	0	1	0	1	2	4	0	2	2	2	2	4	2	2	2	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:41166258C>T	ENST00000220772.3	-	1	758	c.421G>A	c.(421-423)Gag>Aag	p.E141K	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	141	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			ATGACCGGCTCGCACGAGTCG	0.657																																																	0													25	30	28					8																	41166258		2203	4300	6503	SO:0001583	missense	0			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"Secreted frizzled-related proteins"	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.421G>A	8.37:g.41166258C>T	ENSP00000220772:p.Glu141Lys		O00546|O14779	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.E141K	ENST00000220772.3	37	c.421	CCDS34886.1	8	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298174	0.81025	.	.	ENSG00000104332	ENST00000220772;ENST00000535263	T	0.76316	-1.01	4.53	4.53	0.55603	Frizzled domain (5);	0.445426	0.24461	N	0.038324	T	0.75982	0.3924	M	0.66560	2.04	0.50313	D	0.999864	P	0.38420	0.63	B	0.35470	0.203	T	0.80264	-0.1455	10	0.62326	D	0.03	.	16.2365	0.82377	0.0:1.0:0.0:0.0	.	141	Q8N474	SFRP1_HUMAN	K	141	ENSP00000220772:E141K	ENSP00000220772:E141K	E	-	1	0	SFRP1	41285415	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.785000	0.55424	2.045000	0.60652	0.467000	0.42956	GAG	SFRP1	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000104332		0.657	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP1	HGNC	protein_coding	OTTHUMT00000377132.1	-	0	53	0	C	NM_003012		41166258	-1	tier1	-	no_errors	ENST00000220772	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	T	T	41166258	C	T	41166258	3	4	49	1	0	0	0	0	1	0	0	0	14206	893	31	1	535	1	SFRP1	8	41166258	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	5560195	41166258	105197764	98	11823											
RP1	6101	genome.wustl.edu	37	chr8	55534038	55534038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagacgaggcgtgcggttcTtctgagcaggagggtcaccc	8	7	16	10	3	3	2	1	1	2	1	3	5	3	3	1	4	2	2	1	4	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:55534038T>C	ENST00000220676.1	+	2	660	c.512T>C	c.(511-513)cTt>cCt	p.L171P		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	171	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGTGCGGTTCTTCTGAGCAGG	0.652																																					Colon(91;1014 1389 7634 14542 40420)												0													101	102	102					8																	55534038		2203	4300	6503	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.512T>C	8.37:g.55534038T>C	ENSP00000220676:p.Leu171Pro			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L171P	ENST00000220676.1	37	c.512	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278880	0.40294	.	.	ENSG00000104237	ENST00000220676	D	0.93076	-3.16	5.14	3.97	0.46021	Doublecortin domain (5);	0.836191	0.10222	N	0.700757	D	0.94238	0.8150	L	0.46157	1.445	0.23492	N	0.997565	D	0.54397	0.966	P	0.58331	0.837	D	0.85881	0.1422	10	0.72032	D	0.01	0.0111	10.9459	0.47299	0.0:0.0742:0.0:0.9258	.	171	P56715	RP1_HUMAN	P	171	ENSP00000220676:L171P	ENSP00000220676:L171P	L	+	2	0	RP1	55696591	0.811000	0.29063	0.001000	0.08648	0.154000	0.21943	5.012000	0.64017	0.790000	0.33803	0.528000	0.53228	CTT	RP1	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000104237		0.652	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	43	0	T	NM_006269		55534038	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	43.48	39	30	SNP	0.042	C	C	55534038	T	C	55534038	3	2	49	1	0	0	0	0	1	0	0	0	13577	1609	56	4	514	4	RP1	8	55534038	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	14367780	55534038	90829984	99	11824											
PREX2	80243	genome.wustl.edu	37	chr8	68934314	68934314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatattgtagtaaccatgAgaaggcacaaaaattacttc	17	11	7	6	0	0	2	0	2	0	1	1	3	0	2	1	1	2	3	1	1	8	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:68934314A>G	ENST00000288368.4	+	4	657	c.380A>G	c.(379-381)gAg>gGg	p.E127G	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	127	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTAACCATGAGAAGGCACAA	0.294																																																	0													120	116	117					8																	68934314		2202	4300	6502	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.380A>G	8.37:g.68934314A>G	ENSP00000288368:p.Glu127Gly		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E127G	ENST00000288368.4	37	c.380	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	27.4	4.830427	0.91036	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.64085	-0.08	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.80210	0.4581	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.998	T	0.82315	-0.0518	10	0.72032	D	0.01	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	127;127;127	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	G	127	ENSP00000288368:E127G	ENSP00000288368:E127G	E	+	2	0	PREX2	69096868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.939000	0.92951	2.317000	0.78254	0.460000	0.39030	GAG	PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.294	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	59	0	A	NM_025170		68934314	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	39.24	48	31	SNP	1.000	G	G	68934314	A	G	68934314	3	3	49	1	0	0	0	0	1	0	0	0	12519	304	11	4	394	4	PREX2	8	68934314	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	13400276	68934314	77429708	100	11825											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75925214	75925214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaatgcaacccatattGtccattcaggtgttctggcc	10	12	8	11	0	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	3	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:75925214G>T	ENST00000262207.4	+	4	935	c.467G>T	c.(466-468)tGt>tTt	p.C156F	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.V9F	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	156	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AACCCATATTGTCCATTCAGG	0.388																																																	0													113	98	103					8																	75925214		2203	4300	6503	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.467G>T	8.37:g.75925214G>T	ENSP00000262207:p.Cys156Phe		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.C156F	ENST00000262207.4	37	c.467	CCDS6219.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.753952|4.753952	0.89843|0.89843	.|.	.|.	ENSG00000121005|ENSG00000121005	ENST00000262207|ENST00000517786	T|D	0.07688|0.84370	3.17|-1.84	5.37|5.37	5.37|5.37	0.77165|0.77165	CAP domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87661|0.87661	0.6233|0.6233	M|M	0.82323|0.82323	2.585|2.585	0.28104|0.28104	N|N	0.931295|0.931295	D|B	0.89917|0.21606	1.0|0.058	D|B	0.91635|0.23419	0.999|0.046	T|T	0.78800|0.78800	-0.2062|-0.2062	10|8	0.87932|.	D|.	0|.	.|.	19.2974|19.2974	0.94128|0.94128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	156|9	Q9H336|B7Z929	CRLD1_HUMAN|.	F|F	156|9	ENSP00000262207:C156F|ENSP00000429746:V9F	ENSP00000262207:C156F|.	C|V	+|+	2|1	0|0	CRISPLD1|CRISPLD1	76087769|76087769	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.969000|0.969000	0.65631|0.65631	9.507000|9.507000	0.97996|0.97996	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	TGT|GTC	CRISPLD1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000121005		0.388	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	-	0	59	0	G	NM_031461		75925214	1	tier1	-	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	22.78	60	18	SNP	1.000	T	T	75925214	G	T	75925214	3	4	49	1	0	0	0	0	1	0	0	0	3889	1377	48	3	477	3	CRISPLD1	8	75925214	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	6990900	75925214	70438808	101	11826											
MMP16	4325	genome.wustl.edu	37	chr8	89086955	89086955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccctgttgtttctcactCgccaaaaccactggtcctgc	7	12	6	16	1	2	0	2	0	1	0	5	0	3	0	4	1	2	2	4	1	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:89086955C>T	ENST00000286614.6	-	7	1381	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	367					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GTTTCTCACTCGCCAAAACCA	0.488																																																	0													155	147	149					8																	89086955		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1100G>A	8.37:g.89086955C>T	ENSP00000286614:p.Arg367Gln		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R367Q	ENST00000286614.6	37	c.1100	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	30	5.057590	0.93846	.	.	ENSG00000156103	ENST00000286614	T	0.04317	3.65	4.88	4.88	0.63580	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	H	0.95224	3.64	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.74023	0.976;0.982	T	0.53878	-0.8376	10	0.87932	D	0	.	18.4198	0.90586	0.0:1.0:0.0:0.0	.	367;367	P51512-2;P51512	.;MMP16_HUMAN	Q	367	ENSP00000286614:R367Q	ENSP00000286614:R367Q	R	-	2	0	MMP16	89156071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.397000	0.81536	0.650000	0.86243	CGA	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000156103		0.488	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	68	0	C	NM_005941		89086955	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	15.69	86	16	SNP	1.000	T	T	89086955	C	T	89086955	3	4	49	1	0	0	0	0	1	0	0	0	9693	884	31	1	895	1	MMP16	8	89086955	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	13161741	89086955	57277067	102	11827											
OTUD6B	51633	genome.wustl.edu	37	chr8	92082604	92082604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgcgtgtgctggggtacCtggtcgtcatggaggcggta	5	10	18	8	4	1	0	1	0	0	0	2	1	1	1	1	6	3	3	1	6	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:92082604C>T	ENST00000285420.4	+	1	181	c.82C>T	c.(82-84)Ctg>Ttg	p.L28L	GS1-251I9.4_ENST00000522817.1_RNA|GS1-251I9.4_ENST00000524003.1_RNA|OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	0							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GCTGGGGTACCTGGTCGTCAT	0.592																																																	0													94	97	96					8																	92082604		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.82C>T	8.37:g.92082604C>T			A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Silent	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.L28	ENST00000285420.4	37	c.82	CCDS6253.2	8																																																																																			OTUD6B	-	NULL	ENSG00000155100		0.592	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	-	0	108	0	C	NM_016023		92082604	1	tier1	-	no_errors	ENST00000285420	ensembl	human	known	74_37	silent	25.44	85	29	SNP	0.000	T	T	92082604	C	T	92082604	2	4	49	1	0	0	0	0	0	0	0	1	11356	680	24	3		3	OTUD6B	8	92082604	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	2995649	92082604	54281418	103	11828											
TM7SF4	81501	genome.wustl.edu	37	chr8	105367289	105367289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaacttaaaatcctggtgtCagcatctttctaccccagcg	10	11	7	13	1	3	0	1	0	2	0	4	0	4	0	3	1	4	2	3	1	4	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:105367289C>T	ENST00000297581.2	+	3	1263	c.1214C>T	c.(1213-1215)tCa>tTa	p.S405L	DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	405					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											ATCCTGGTGTCAGCATCTTTC	0.443																																																	0													143	140	141					8																	105367289		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1214C>T	8.37:g.105367289C>T	ENSP00000297581:p.Ser405Leu		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.S405L	ENST00000297581.2	37	c.1214	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156759	0.38119	.	.	ENSG00000164935	ENST00000297581	T	0.30448	1.53	5.3	3.51	0.40186	Dendritic cell-specific transmembrane protein-like (1);	0.341542	0.32671	N	0.005793	T	0.33904	0.0879	M	0.77820	2.39	0.80722	D	1	P	0.39352	0.669	B	0.38156	0.266	T	0.09840	-1.0656	10	0.34782	T	0.22	-1.7356	10.5324	0.44983	0.0:0.8486:0.0:0.1514	.	405	Q9H295	TM7S4_HUMAN	L	405	ENSP00000297581:S405L	ENSP00000297581:S405L	S	+	2	0	TM7SF4	105436465	0.862000	0.29867	0.484000	0.27391	0.800000	0.45204	1.551000	0.36233	0.730000	0.32425	-0.291000	0.09656	TCA	DCSTAMP	-	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	ENSG00000164935		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1		0	43	0	C	NM_030788		105367289	1			no_errors	ENST00000297581	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.891	T	T	105367289	C	T	105367289	3	4	49	1	0	0	0	0	1	0	0	0	16023	838	29	3	1220	3	TM7SF4	8	105367289	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	13284685	105367289	40996733	104	11829											
LRP12	29967	genome.wustl.edu	37	chr8	105507424	105507424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccactcttgacaactGtgtttcaaatgatctttgag	9	16	7	9	0	3	3	1	3	2	0	4	3	4	3	1	0	2	2	1	0	2	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:105507424G>C	ENST00000276654.5	-	6	1702	c.1594C>G	c.(1594-1596)Cag>Gag	p.Q532E	LRP12_ENST00000424843.2_Missense_Mutation_p.Q513E|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	532					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGACAACTGTGTTTCAAAT	0.358																																																	0													90	96	94					8																	105507424		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1594C>G	8.37:g.105507424G>C	ENSP00000276654:p.Gln532Glu		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.Q513E	ENST00000276654.5	37	c.1537	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429485	0.62844	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.93763	-1.86;-1.8;-3.28	5.72	5.72	0.89469	.	0.100997	0.64402	D	0.000001	D	0.89719	0.6796	N	0.22421	0.69	0.80722	D	1	B;B	0.24483	0.073;0.104	B;B	0.24701	0.055;0.036	D	0.85097	0.0955	10	0.51188	T	0.08	-7.701	20.244	0.98389	0.0:0.0:1.0:0.0	.	513;532	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	513;532;121	ENSP00000399148:Q513E;ENSP00000276654:Q532E;ENSP00000429305:Q121E	ENSP00000276654:Q532E	Q	-	1	0	LRP12	105576600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.799000	0.99117	2.865000	0.98341	0.655000	0.94253	CAG	LRP12	-	NULL	ENSG00000147650		0.358	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	25	0	G	NM_013437		105507424	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	C	C	105507424	G	C	105507424	3	2	49	1	0	0	0	0	1	0	0	0	8989	1386	48	5	993	5	LRP12	8	105507424	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	140135	105507424	40856598	105	11830											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110457538	110457538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacatcattctgttagtGttgtggtgggaagtaaaggc	9	14	14	4	0	2	0	1	0	1	0	2	2	2	2	0	4	0	3	0	4	4	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:110457538G>A	ENST00000378402.5	+	38	5544	c.5440G>A	c.(5440-5442)Gtt>Att	p.V1814I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1814	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTGTTAGTGTTGTGGTGGG	0.463										HNSCC(38;0.096)																																							0													109	107	108					8																	110457538		1969	4175	6144	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5440G>A	8.37:g.110457538G>A	ENSP00000367655:p.Val1814Ile		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.V1814I	ENST00000378402.5	37	c.5440	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248960	0.80024	.	.	ENSG00000205038	ENST00000378402	T	0.79845	-1.31	6.03	6.03	0.97812	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.87124	0.6099	M	0.76328	2.33	0.43061	D	0.99468	P	0.51933	0.949	P	0.55577	0.779	D	0.85213	0.1022	10	0.33940	T	0.23	.	18.0507	0.89347	0.0:0.0:1.0:0.0	.	1814	Q86WI1	PKHL1_HUMAN	I	1814	ENSP00000367655:V1814I	ENSP00000367655:V1814I	V	+	1	0	PKHD1L1	110526714	1.000000	0.71417	0.912000	0.35992	0.780000	0.44128	5.967000	0.70403	2.861000	0.98227	0.655000	0.94253	GTT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.463	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	25	0	G	NM_177531		110457538	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	46.00	27	23	SNP	1.000	A	A	110457538	G	A	110457538	3	1	49	1	0	0	0	0	1	0	0	0	12011	1377	48	3	5590	3	PKHD1L1	8	110457538	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	4950114	110457538	35906484	106	11831											
SYBU	55638	genome.wustl.edu	37	chr8	110654996	110654996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaacggtcctcgctgagcGcccagagctgctggggttga	6	8	15	12	3	0	3	0	2	0	1	2	3	1	3	2	3	4	5	2	3	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:110654996G>A	ENST00000422135.1	-	3	705	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SYBU_ENST00000532779.1_Intron|SYBU_ENST00000408908.2_Missense_Mutation_p.R64C|SYBU_ENST00000399066.3_Missense_Mutation_p.R61C|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000446070.2_Missense_Mutation_p.R63C|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000276646.9_Missense_Mutation_p.R64C|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000419099.1_Missense_Mutation_p.R63C|SYBU_ENST00000533171.1_Missense_Mutation_p.R64C|SYBU_ENST00000440310.1_Missense_Mutation_p.R64C|RP11-422N16.3_ENST00000499579.1_5'Flank|SYBU_ENST00000424158.2_Missense_Mutation_p.R69C|SYBU_ENST00000533895.1_Missense_Mutation_p.R63C|SYBU_ENST00000433638.1_Missense_Mutation_p.R64C|SYBU_ENST00000528647.1_Missense_Mutation_p.R63C	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	64	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTCGCTGAGCGCCCAGAGCTG	0.587																																																	0													65	69	68					8																	110654996		1983	4153	6136	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.190C>T	8.37:g.110654996G>A	ENSP00000407118:p.Arg64Cys		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.R64C	ENST00000422135.1	37	c.190	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858915	0.91433	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000399066;ENST00000446070;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000533171;ENST00000529190;ENST00000533821;ENST00000534501;ENST00000524720;ENST00000534184;ENST00000528716;ENST00000526302;ENST00000534578;ENST00000527600	.	.	.	6.17	6.17	0.99709	.	0.199906	0.53938	D	0.000053	T	0.76849	0.4045	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;P	0.62014	0.897;0.897;0.897	T	0.76631	-0.2888	9	0.62326	D	0.03	-16.9241	18.3732	0.90420	0.0:0.0:1.0:0.0	.	63;64;61	Q9NX95-3;Q9NX95;Q9NX95-4	.;SYBU_HUMAN;.	C	63;69;61;63;64;63;64;63;64;64;64;64;63;63;64;64;63;64;64;64;64	.	ENSP00000276646:R64C	R	-	1	0	SYBU	110724172	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.012000	0.57131	2.941000	0.99782	0.655000	0.94253	CGC	SYBU	-	NULL	ENSG00000147642		0.587	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	-	0	35	0	G	NM_017786		110654996	-1	tier1	-	no_errors	ENST00000276646	ensembl	human	known	74_37	missense	33.82	45	23	SNP	1.000	A	A	110654996	G	A	110654996	3	1	49	1	0	0	0	0	1	0	0	0	15474	1087	38	1	1825	1	SYBU	8	110654996	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	197458	110654996	35709026	107	11832											
EFR3A	23167	genome.wustl.edu	37	chr8	132952792	132952792	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctcgctacaaacgcctGgtggacaacatattccctga	10	9	8	14	3	0	1	0	1	0	0	3	2	2	2	3	2	3	1	3	2	4	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr8:132952792G>A	ENST00000254624.5	+	2	282	c.57G>A	c.(55-57)ctG>ctA	p.L19L	EFR3A_ENST00000519656.1_De_novo_Start_InFrame|EFR3A_ENST00000334503.4_Silent_p.L19L	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	19						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ACAAACGCCTGGTGGACAACA	0.413																																																	0													86	87	86					8																	132952792		2077	4209	6286	SO:0001819	synonymous_variant	0			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.57G>A	8.37:g.132952792G>A			A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	superfamily_ARM-type_fold	p.L19	ENST00000254624.5	37	c.57	CCDS34942.2	8																																																																																			EFR3A	-	NULL	ENSG00000132294		0.413	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	-	0	62	0	G	NM_015137		132952792	1	tier1	-	no_errors	ENST00000254624	ensembl	human	known	74_37	silent	25.24	77	26	SNP	1.000	A	A	132952792	G	A	132952792	2	1	49	1	0	0	0	0	0	0	0	1	4972	1335	47	3		3	EFR3A	8	132952792	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	22297796	132952792	13411230	108	11833											
TAF1L	138474	genome.wustl.edu	37	chr9	32632004	32632004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactctttcccctcttcatCtcgaaatgtgcgataaatct	10	15	4	12	2	5	0	1	0	4	0	7	2	6	0	2	0	2	0	2	0	4	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr9:32632004C>A	ENST00000242310.4	-	1	3663	c.3574G>T	c.(3574-3576)Gat>Tat	p.D1192Y	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1192					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCTCTTCATCTCGAAATGTG	0.443																																																	0													208	170	183					9																	32632004		2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3574G>T	9.37:g.32632004C>A	ENSP00000418379:p.Asp1192Tyr		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D1192Y	ENST00000242310.4	37	c.3574	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647768	0.47258	.	.	ENSG00000122728	ENST00000242310	T	0.19105	2.17	0.479	0.479	0.16796	.	0.093766	0.64402	D	0.000001	T	0.24044	0.0582	M	0.71871	2.18	0.53688	D	0.99997	P	0.47545	0.897	P	0.45753	0.492	T	0.04191	-1.0970	10	0.56958	D	0.05	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1192	Q8IZX4	TAF1L_HUMAN	Y	1192	ENSP00000418379:D1192Y	ENSP00000418379:D1192Y	D	-	1	0	TAF1L	32622004	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	GAT	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.443	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2		0	72	0	C			32632004	-1			no_errors	ENST00000242310	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	32632004	C	A	32632004	3	1	49	1	0	0	0	0	1	0	0	0	15570	913	32	3	1910	3	TAF1L	9	32632004	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		32632004	108581427	109	11834											
C9orf40	55071	genome.wustl.edu	37	chr9	77563083	77563083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcaaaggattcctccAgtactggaaggtattatact	13	10	11	7	0	0	0	0	0	0	0	2	3	2	3	2	5	2	3	2	5	6	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr9:77563083A>G	ENST00000376854.5	-	2	740	c.466T>C	c.(466-468)Tgg>Cgg	p.W156R		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	156										lung(2)|stomach(1)	3						GGATTCCTCCAGTACTGGAAG	0.388																																																	0													109	102	105					9																	77563083		2203	4300	6503	SO:0001583	missense	0			AK000972	CCDS6648.1	9q21.31	2012-03-15			ENSG00000135045	ENSG00000135045			23433	protein-coding gene	gene with protein product							Standard	NM_017998		Approved	FLJ10110	uc004ajo.4	Q8IXQ3	OTTHUMG00000020031	ENST00000376854.5:c.466T>C	9.37:g.77563083A>G	ENSP00000366050:p.Trp156Arg		Q9NWD3	Missense_Mutation	SNP	NULL	p.W156R	ENST00000376854.5	37	c.466	CCDS6648.1	9	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771443	0.69992	.	.	ENSG00000135045	ENST00000376854	.	.	.	5.98	5.98	0.97165	.	0.000000	0.44902	D	0.000409	T	0.76040	0.3932	M	0.63843	1.955	0.38854	D	0.956347	D	0.89917	1.0	D	0.91635	0.999	T	0.79813	-0.1645	9	0.87932	D	0	-14.784	12.854	0.57873	1.0:0.0:0.0:0.0	.	156	Q8IXQ3	CI040_HUMAN	R	156	.	ENSP00000366050:W156R	W	-	1	0	C9orf40	76752903	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.833000	0.62766	2.289000	0.77006	0.533000	0.62120	TGG	C9orf40	-	NULL	ENSG00000135045		0.388	C9orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf40	HGNC	protein_coding	OTTHUMT00000052702.1	-	0	21	0	A	NM_017998		77563083	-1	tier1	-	no_errors	ENST00000376854	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	G	G	77563083	A	G	77563083	3	3	49	1	0	0	0	0	1	0	0	0	2488	188	7	4	122	4	C9orf40	9	77563083	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	44931079	77563083	63650348	110	11835											
C9orf79	286234	genome.wustl.edu	37	chr9	90500069	90500069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaaccctgagtgcctccGggccaccagagcccttgctt	7	8	9	17	1	1	2	1	1	0	1	2	2	2	2	6	1	4	1	6	1	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr9:90500069G>A	ENST00000325643.5	+	4	733	c.667G>A	c.(667-669)Ggg>Agg	p.G223R		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	223	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G223W(1)									GAGTGCCTCCGGGCCACCAGA	0.627																																																	1	Substitution - Missense(1)	lung(1)											98	107	104					9																	90500069		2203	4300	6503	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.667G>A	9.37:g.90500069G>A	ENSP00000322640:p.Gly223Arg		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.G223R	ENST00000325643.5	37	c.667	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.086634	0.00367	.	.	ENSG00000177992	ENST00000325643	T	0.03035	4.07	1.31	-2.62	0.06152	.	.	.	.	.	T	0.01320	0.0043	N	0.03115	-0.41	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47995	-0.9073	9	0.13853	T	0.58	.	2.2136	0.03954	0.4397:0.3173:0.243:0.0	.	223	Q6ZUB1	CI079_HUMAN	R	223	ENSP00000322640:G223R	ENSP00000322640:G223R	G	+	1	0	C9orf79	89689889	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.920000	0.04013	-0.581000	0.05937	-0.455000	0.05494	GGG	SPATA31E1	-	NULL	ENSG00000177992		0.627	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0	32	0	G	NM_178828		90500069	1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.000	A	A	90500069	G	A	90500069	3	1	49	1	0	0	0	0	1	0	0	0	2504	1116	39	1	681	1	C9orf79	9	90500069	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	12936986	90500069	50713362	111	11836											
SMC2	10592	genome.wustl.edu	37	chr9	106882419	106882419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctctagaagaggaattagCaggtcttaaaaacactgctg	14	9	11	7	0	2	2	0	0	2	2	2	3	2	3	0	3	3	3	0	3	7	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr9:106882419C>G	ENST00000286398.7	+	16	2396	c.2108C>G	c.(2107-2109)gCa>gGa	p.A703G	SMC2_ENST00000374787.3_Missense_Mutation_p.A703G|SMC2_ENST00000374793.3_Missense_Mutation_p.A703G|SMC2_ENST00000303219.8_Missense_Mutation_p.A703G	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	703					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAGGAATTAGCAGGTCTTAAA	0.333																																																	0													89	98	95					9																	106882419		2202	4300	6502	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2108C>G	9.37:g.106882419C>G	ENSP00000286398:p.Ala703Gly		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.A703G	ENST00000286398.7	37	c.2108	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168284	0.38315	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.79749	-1.3;-1.3;3.15;-1.3	5.43	5.43	0.79202	.	0.562057	0.19849	N	0.104700	T	0.62208	0.2409	N	0.08118	0	0.34339	D	0.688561	B;B	0.34181	0.012;0.44	B;B	0.30646	0.021;0.118	T	0.71676	-0.4521	10	0.41790	T	0.15	-9.119	11.3173	0.49399	0.0:0.9156:0.0:0.0844	.	703;703	O95347;Q2KQ72	SMC2_HUMAN;.	G	703	ENSP00000286398:A703G;ENSP00000363925:A703G;ENSP00000306152:A703G;ENSP00000363919:A703G	ENSP00000286398:A703G	A	+	2	0	SMC2	105922240	0.836000	0.29430	0.998000	0.56505	0.995000	0.86356	0.802000	0.27069	2.542000	0.85734	0.585000	0.79938	GCA	SMC2	-	superfamily_P-loop_NTPase	ENSG00000136824		0.333	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	-	0	38	0	C			106882419	1	tier1	-	no_errors	ENST00000286398	ensembl	human	known	74_37	missense	48.65	19	18	SNP	0.872	G	G	106882419	C	G	106882419	3	3	49	1	0	0	0	0	1	0	0	0	14828	710	25	5	2166	5	SMC2	9	106882419	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	16382350	106882419	34331012	112	11837											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24909458	24909458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcttgggacacactgcGttgccgtatctggacagact	7	13	10	11	2	3	1	0	0	3	1	3	3	3	3	1	2	2	2	1	2	1	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:24909458G>A	ENST00000396432.2	-	9	1852	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R243C	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	455					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GACACACTGCGTTGCCGTATC	0.498																																																	0													36	34	35					10																	24909458		2202	4278	6480	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.1366C>T	10.37:g.24909458G>A	ENSP00000379709:p.Arg456Cys		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R456C	ENST00000396432.2	37	c.1366	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647706	0.67358	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.74315	1.18;0.84;-0.83;-0.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.86029	0.5835	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.971	D	0.86779	0.1978	10	0.87932	D	0	.	15.8177	0.78615	0.0:0.0:0.8017:0.1983	.	446;455	F8W9U9;Q5T5U3	.;RHG21_HUMAN	C	456;445;243;446;456;291	ENSP00000379709:R456C;ENSP00000365604:R243C;ENSP00000365592:R446C;ENSP00000405018:R456C	ENSP00000365604:R243C	R	-	1	0	ARHGAP21	24949464	1.000000	0.71417	0.846000	0.33378	0.787000	0.44495	5.868000	0.69605	2.937000	0.99478	0.650000	0.86243	CGC	ARHGAP21	-	NULL	ENSG00000107863		0.498	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	65	0	G	NM_020824		24909458	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	12.33	64	9	SNP	0.989	A	A	24909458	G	A	24909458	3	1	49	1	0	0	0	0	1	0	0	0	871	1145	40	1	4582	1	ARHGAP21	10	24909458	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		24909458	110625289	113	11838											
GPR158	57512	genome.wustl.edu	37	chr10	25888059	25888059	+	Silent	SNP	A	A	T																															cagcaacctttaacatcacgAgcagaggtttgtccttggga																										TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:25888059A>T	ENST00000376351.3	+	11	3863	c.3504A>T	c.(3502-3504)cgA>cgT	p.R1168R	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1168					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TAACATCACGAGCAGAGGTTT	0.438																																																	0													52	55	54					10																	25888059		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3504A>T	10.37:g.25888059A>T			Q6QR81|Q9ULT3	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.R1168	ENST00000376351.3	37	c.3504	CCDS31166.1	10																																																																																			GPR158	-	NULL	ENSG00000151025		0.438	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	25	0	A	XM_166110		25888059	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	silent	42.86	8	6	SNP	0.991	T	T	25888059	A	T	25888059	2	4	49	1	0	0	0	0	0	0	0	1	6689	291	11	5		5	GPR158	10	25888059	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	978601	25888059	109646688	114	11839	43	2									
GPR158	57512	genome.wustl.edu	37	chr10	25888066	25888066	+	Missense_Mutation	SNP	G	G	A																															ctttaacatcacgagcagagGtttgtccttgggagtttgag																										TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:25888066G>A	ENST00000376351.3	+	11	3870	c.3511G>A	c.(3511-3513)Gtt>Att	p.V1171I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1171					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGAGCAGAGGTTTGTCCTTG	0.458																																																	0													50	54	53					10																	25888066		2203	4300	6503	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3511G>A	10.37:g.25888066G>A	ENSP00000365529:p.Val1171Ile		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.V1171I	ENST00000376351.3	37	c.3511	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	5.422	0.263090	0.10294	.	.	ENSG00000151025	ENST00000376351	T	0.68765	-0.35	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000005	T	0.52645	0.1747	L	0.34521	1.04	0.43263	D	0.995204	B	0.33857	0.429	B	0.26202	0.067	T	0.51521	-0.8695	10	0.28530	T	0.3	.	14.1165	0.65156	0.0715:0.0:0.9285:0.0	.	1171	Q5T848	GP158_HUMAN	I	1171	ENSP00000365529:V1171I	ENSP00000365529:V1171I	V	+	1	0	GPR158	25928072	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	4.916000	0.63362	2.702000	0.92279	0.655000	0.94253	GTT	GPR158	-	NULL	ENSG00000151025		0.458	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	20	0	G	XM_166110		25888066	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	A	A	25888066	G	A	25888066	3	1	49	1	0	0	0	0	1	0	0	0	6689	1261	44	3	3553	3	GPR158	10	25888066	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	7	25888066	109646681	115	11840	43	2									
RET	5979	genome.wustl.edu	37	chr10	43619215	43619215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaaccttctgaagacCggccaccggatggagaggcc	9	7	11	14	2	3	3	1	1	2	2	3	5	3	4	5	4	1	0	5	4	2	2	rs373693875		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:43619215C>T	ENST00000355710.3	+	17	3130	c.2898C>T	c.(2896-2898)acC>acT	p.T966T	RET_ENST00000340058.5_Silent_p.T966T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	966	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T966T(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TTCTGAAGACCGGCCACCGGA	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	1	Substitution - coding silent(1)	ovary(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	77	80	79		2898,2898	-10.3	0.3	10		79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RET	NM_020630.4,NM_020975.4	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	966/1073,966/1115	43619215	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2898C>T	10.37:g.43619215C>T			A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.T966	ENST00000355710.3	37	c.2898	CCDS7200.1	10																																																																																			RET	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000165731		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	-	0	79	0	C	NM_020975		43619215	1	tier1	-	no_errors	ENST00000355710	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.440	T	T	43619215	C	T	43619215	2	4	49	1	0	0	0	0	0	0	0	1	13280	639	23	1		1	RET	10	43619215	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	17731149	43619215	91915532	116	11841											
A1CF	29974	genome.wustl.edu	37	chr10	52573791	52573791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccagtcctctcactccCgcagcccctacaggtacatt	7	8	6	20	2	1	0	1	0	1	0	4	0	3	0	6	1	3	2	6	1	2	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:52573791C>T	ENST00000373993.1	-	8	1217	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	A1CF_ENST00000373997.3_Silent_p.A383A|A1CF_ENST00000395489.2_Silent_p.A384A|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Silent_p.A391A|A1CF_ENST00000395495.1_Silent_p.A336A|A1CF_ENST00000374001.2_Silent_p.A383A|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Silent_p.A391A			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	391	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCTCACTCCCGCAGCCCCTA	0.468																																																	0													66	70	69					10																	52573791		2203	4300	6503	SO:0001819	synonymous_variant	0			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"RNA binding motif (RRM) containing"	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1173G>A	10.37:g.52573791C>T			A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.A391	ENST00000373993.1	37	c.1173	CCDS7242.1	10																																																																																			A1CF	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000148584		0.468	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	HGNC	protein_coding	OTTHUMT00000048086.2	-	0	20	0	C	NM_014576		52573791	-1	tier1	-	no_errors	ENST00000282641	ensembl	human	known	74_37	silent	29.41	12	5	SNP	1.000	T	T	52573791	C	T	52573791	2	4	49	1	0	0	0	0	0	0	0	1	2	639	23	1		1	A1CF	10	52573791	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	8954576	52573791	82960956	117	11842											
PCDH15	65217	genome.wustl.edu	37	chr10	55591078	55591078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccttgaatacttactgtCtgtagctgaccaaaaccacc	12	11	5	13	0	1	2	0	2	1	0	2	2	2	2	4	0	4	2	4	0	6	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:55591078C>T	ENST00000320301.6	-	30	4593	c.4199G>A	c.(4198-4200)aGa>aAa	p.R1400K	PCDH15_ENST00000395433.1_Missense_Mutation_p.R1378K|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1407K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1363K|PCDH15_ENST00000409834.1_Missense_Mutation_p.R1011K|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1405K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1407K|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1400K|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1400K|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1400K|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1329K	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1400					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TACTTACTGTCTGTAGCTGAC	0.453										HNSCC(58;0.16)																																							0													201	179	187					10																	55591078		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4199G>A	10.37:g.55591078C>T	ENSP00000322604:p.Arg1400Lys		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1400K	ENST00000320301.6	37	c.4199	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221178	0.58560	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58652	0.55;0.61;0.56;0.55;0.48;0.52;0.47;0.54;0.48;0.5;0.32	5.57	4.66	0.58398	.	.	.	.	.	T	0.57784	0.2077	N	0.12182	0.205	0.45914	D	0.998755	B;B;B;B;B;B;D;B;B;B;B;B;B	0.57257	0.392;0.172;0.172;0.089;0.224;0.172;0.979;0.052;0.1;0.1;0.052;0.052;0.172	P;B;B;B;B;B;D;B;B;B;B;B;B	0.74348	0.545;0.07;0.07;0.034;0.07;0.07;0.983;0.016;0.039;0.039;0.016;0.058;0.07	T	0.57585	-0.7786	9	0.36615	T	0.2	.	13.8865	0.63712	0.0:0.9258:0.0:0.0742	.	1378;1400;1400;1405;1329;1363;1400;1400;1407;1407;1400;1405;1400	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1407;1405;1400;1400;1011;1407;1363;1400;1378;1400;1400;1405;1329	ENSP00000363076:R1407K;ENSP00000410304:R1405K;ENSP00000378826:R1400K;ENSP00000386693:R1011K;ENSP00000378832:R1407K;ENSP00000378820:R1363K;ENSP00000354950:R1400K;ENSP00000378821:R1378K;ENSP00000322604:R1400K;ENSP00000378818:R1400K;ENSP00000412628:R1329K	ENSP00000322604:R1400K	R	-	2	0	PCDH15	55261084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.585000	0.36600	2.785000	0.95823	0.591000	0.81541	AGA	PCDH15	-	NULL	ENSG00000150275		0.453	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	55	0	C	NM_033056		55591078	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	33.93	36	19	SNP	1.000	T	T	55591078	C	T	55591078	3	4	49	1	0	0	0	0	1	0	0	0	11550	913	32	3	3303	3	PCDH15	10	55591078	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	3017287	55591078	79943669	118	11843											
JMJD1C	221037	genome.wustl.edu	37	chr10	64976993	64976993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcataacgatcatggtgcGggtgaagagatcatgatgag	13	10	13	5	2	3	4	3	3	0	1	3	6	3	4	0	2	2	0	0	2	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:64976993G>T	ENST00000399262.2	-	5	870	c.652C>A	c.(652-654)Cgc>Agc	p.R218S	JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000402544.1_5'UTR|JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R36S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	218					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATCATGGTGCGGGTGAAGAGA	0.373																																																	0													115	111	112					10																	64976993		1850	4104	5954	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.652C>A	10.37:g.64976993G>T	ENSP00000382204:p.Arg218Ser		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R218S	ENST00000399262.2	37	c.652	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919490	0.73098	.	.	ENSG00000171988	ENST00000399262;ENST00000542921	T;T	0.08896	3.04;3.04	5.74	5.74	0.90152	.	0.255682	0.32578	U	0.005909	T	0.13072	0.0317	L	0.50333	1.59	0.80722	D	1	B	0.21753	0.06	B	0.22601	0.04	T	0.02950	-1.1090	10	0.87932	D	0	-5.1461	19.915	0.97057	0.0:0.0:1.0:0.0	.	218	Q15652	JHD2C_HUMAN	S	218;36	ENSP00000382204:R218S;ENSP00000444682:R36S	ENSP00000382204:R218S	R	-	1	0	JMJD1C	64646999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.150000	0.64869	2.707000	0.92482	0.557000	0.71058	CGC	JMJD1C	-	NULL	ENSG00000171988		0.373	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	-	0	49	0	G	NM_004241		64976993	-1	tier1	-	no_errors	ENST00000399262	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	64976993	G	T	64976993	3	4	49	1	0	0	0	0	1	0	0	0	7977	1116	39	2	7058	2	JMJD1C	10	64976993	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	9385915	64976993	70557754	119	11844											
KCNMA1	3778	genome.wustl.edu	37	chr10	78880764	78880764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcagaaactgcaaaattTctgaaaactgtatcagtctc	15	13	5	8	0	4	2	2	1	2	1	5	2	4	2	0	0	3	2	0	0	7	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:78880764T>C	ENST00000286628.8	-	6	850	c.851A>G	c.(850-852)gAa>gGa	p.E284G	KCNMA1_ENST00000372440.1_Missense_Mutation_p.E284G|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E284G|KCNMA1_ENST00000286627.5_Missense_Mutation_p.E284G|KCNMA1_ENST00000404857.1_Missense_Mutation_p.E284G|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E284G|KCNMA1_ENST00000372443.1_Missense_Mutation_p.E284G|KCNMA1_ENST00000404771.3_Missense_Mutation_p.E284G	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	284					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTGCAAAATTTCTGAAAACTG	0.323																																																	0													43	47	46					10																	78880764		2200	4298	6498	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.851A>G	10.37:g.78880764T>C	ENSP00000286628:p.Glu284Gly		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.E284G	ENST00000286628.8	37	c.851		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.859076|4.859076	0.91433|0.91433	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372403	D;D;D;D;D;D;D;D;D|.	0.97378|.	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56645|0.56645	0.1999|0.1999	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;P;P;D;D;D|.	0.89917|.	1.0;0.941;0.928;0.993;0.967;0.973|.	D;P;P;D;P;P|.	0.87578|.	0.998;0.739;0.79;0.973;0.79;0.867|.	T|T	0.52601|0.52601	-0.8554|-0.8554	10|5	0.87932|.	D|.	0|.	-13.8482|-13.8482	16.2378|16.2378	0.82389|0.82389	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	284;284;284;284;284;284|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.|.	G|E	284;221;219;258;221;284;284;258;284;284;284;66|235	ENSP00000361517:E284G;ENSP00000361485:E221G;ENSP00000361514:E219G;ENSP00000396608:E258G;ENSP00000361520:E284G;ENSP00000286627:E284G;ENSP00000385552:E284G;ENSP00000346321:E284G;ENSP00000385806:E284G|.	ENSP00000286627:E284G|.	E|K	-|-	2|1	0|0	KCNMA1|KCNMA1	78550770|78550770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.934000|7.934000	0.87649|0.87649	2.317000|2.317000	0.78254|0.78254	0.459000|0.459000	0.35465|0.35465	GAA|AAA	KCNMA1	-	pfam_Ion_trans_dom	ENSG00000156113		0.323	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	63	0	T	NM_002247		78880764	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	44.23	29	23	SNP	1.000	C	C	78880764	T	C	78880764	3	2	49	1	0	0	0	0	1	0	0	0	8100	1783	62	4	3123	4	KCNMA1	10	78880764	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	13903771	78880764	56653983	120	11845											
GRID1	2894	genome.wustl.edu	37	chr10	87484373	87484373	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccatgtaccgcttgctgaAgtccacaacgctctccctct	7	11	7	16	2	2	1	0	1	2	0	5	1	4	1	4	0	3	4	4	0	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:87484373A>C	ENST00000327946.7	-	11	1679	c.1594T>G	c.(1594-1596)Ttc>Gtc	p.F532V	GRID1_ENST00000536331.1_Missense_Mutation_p.F103V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	532					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGCTTGCTGAAGTCCACAACG	0.498										Multiple Myeloma(13;0.14)																																							0													77	72	74					10																	87484373		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1594T>G	10.37:g.87484373A>C	ENSP00000330148:p.Phe532Val		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F532V	ENST00000327946.7	37	c.1594	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	A	28.3	4.906726	0.92107	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.54479	0.57;0.57	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.82875	0.5132	H	0.97940	4.11	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.89277	0.3609	10	0.87932	D	0	.	15.3578	0.74440	1.0:0.0:0.0:0.0	.	532	Q9ULK0	GRID1_HUMAN	V	532;103	ENSP00000330148:F532V;ENSP00000444455:F103V	ENSP00000330148:F532V	F	-	1	0	GRID1	87474353	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.253000	0.95501	2.212000	0.71576	0.528000	0.53228	TTC	GRID1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.498	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0	21	0	A	XM_043613		87484373	-1	tier1	-	no_errors	ENST00000327946	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	C	C	87484373	A	C	87484373	3	2	49	1	0	0	0	0	1	0	0	0	6798	72	3	4	1459	4	GRID1	10	87484373	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	8603609	87484373	48050374	121	11846											
SORCS1	114815	genome.wustl.edu	37	chr10	108923957	108923957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgatccgctccgctccGtctcctccggccggagcgtg	2	9	11	19	6	1	1	0	1	1	0	7	2	6	2	7	2	1	2	7	2	0	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:108923957G>A	ENST00000263054.6	-	1	335	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SORCS1_ENST00000344440.6_Missense_Mutation_p.R110W	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	110					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTCCGCTCCGTCTCCTCCGG	0.706																																																	0													23	24	24					10																	108923957		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.328C>T	10.37:g.108923957G>A	ENSP00000263054:p.Arg110Trp		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.R110W	ENST00000263054.6	37	c.328	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455409	0.43634	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.18338	2.22;2.24	4.45	2.5	0.30297	.	0.333009	0.20194	N	0.097249	T	0.16938	0.0407	N	0.14661	0.345	0.32664	N	0.517636	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;P;P;P;P	0.60609	0.756;0.877;0.877;0.756;0.877	T	0.16482	-1.0401	9	.	.	.	-15.0269	6.9643	0.24615	0.0:0.1729:0.4714:0.3557	.	110;110;110;110;110	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	W	110	ENSP00000263054:R110W;ENSP00000345964:R110W	.	R	-	1	2	SORCS1	108913947	0.400000	0.25295	0.998000	0.56505	0.374000	0.29953	0.237000	0.17985	0.439000	0.26476	-0.293000	0.09583	CGG	SORCS1	-	NULL	ENSG00000108018		0.706	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	22	0	G	NM_052918		108923957	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	29.41	11	5	SNP	0.999	A	A	108923957	G	A	108923957	3	1	49	1	0	0	0	0	1	0	0	0	14975	1144	40	1	3516	1	SORCS1	10	108923957	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	21439584	108923957	26610790	122	11847											
GPAM	57678	genome.wustl.edu	37	chr10	113921486	113921486	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacataatggcacaggacTtgctagcagctggaaggcaa	13	7	13	8	0	0	0	0	0	0	0	0	3	0	3	0	5	3	5	0	5	4	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:113921486T>A	ENST00000348367.4	-	15	1630	c.1433A>T	c.(1432-1434)aAg>aTg	p.K478M	GPAM_ENST00000423155.1_Missense_Mutation_p.K478M|GPAM_ENST00000369425.1_Missense_Mutation_p.K478M			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	478					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGCACAGGACTTGCTAGCAGC	0.413																																					Ovarian(161;1017 2606 18293 52943)												0													126	106	113					10																	113921486		2203	4300	6503	SO:0001583	missense	0			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"glycerol-3-phosphate acyltransferase 1, mitochondrial"	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.1433A>T	10.37:g.113921486T>A	ENSP00000265276:p.Lys478Met		Q5VW51|Q86TA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.K478M	ENST00000348367.4	37	c.1433	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743460	0.69418	.	.	ENSG00000119927	ENST00000348367;ENST00000423155;ENST00000369425	T;T;T	0.70869	-0.52;-0.52;-0.5	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	L	0.61387	1.9	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;P	0.73380	0.98;0.879	T	0.81176	-0.1052	10	0.45353	T	0.12	-21.2927	13.6873	0.62524	0.0:0.0:0.0:1.0	.	478;478	Q5VW52;Q9HCL2	.;GPAT1_HUMAN	M	478	ENSP00000265276:K478M;ENSP00000409242:K478M;ENSP00000358433:K478M	ENSP00000265276:K478M	K	-	2	0	GPAM	113911476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	1.985000	0.57927	0.523000	0.50628	AAG	GPAM	-	NULL	ENSG00000119927		0.413	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	-	0	34	0	T	NM_020918		113921486	-1	tier1	-	no_errors	ENST00000348367	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A	A	113921486	T	A	113921486	3	1	49	1	0	0	0	0	1	0	0	0	6614	1609	56	5	1085	5	GPAM	10	113921486	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	4997529	113921486	21613261	123	11848											
VAX1	11023	genome.wustl.edu	37	chr10	118893682	118893682	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggctggcgacggagccgAgcagcgagggcaccggcagg	7	1	21	12	6	0	0	0	0	0	0	0	4	0	1	2	7	3	4	2	7	0	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:118893682A>C	ENST00000369206.5	-	3	841	c.842T>G	c.(841-843)cTc>cGc	p.L281R	VAX1_ENST00000277905.2_Intron	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	281					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GACGGAGCCGAGCAGCGAGGG	0.711																																																	0													22	24	23					10																	118893682		692	1591	2283	SO:0001583	missense	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.842T>G	10.37:g.118893682A>C	ENSP00000358207:p.Leu281Arg		B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.L281R	ENST00000369206.5	37	c.842	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	A	15.47	2.842882	0.51057	.	.	ENSG00000148704	ENST00000369206	D	0.92805	-3.11	4.19	4.19	0.49359	.	0.000000	0.64402	D	0.000001	D	0.93700	0.7987	L	0.50333	1.59	0.50813	D	0.999896	D	0.71674	0.998	D	0.83275	0.996	D	0.91793	0.5445	10	0.23302	T	0.38	-13.4139	13.3916	0.60827	1.0:0.0:0.0:0.0	.	281	Q5SQQ9	VAX1_HUMAN	R	281	ENSP00000358207:L281R	ENSP00000358207:L281R	L	-	2	0	VAX1	118883672	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.744000	0.62118	1.753000	0.51906	0.247000	0.18012	CTC	VAX1	-	NULL	ENSG00000148704		0.711	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	-	0	43	0	A	XM_301242		118893682	-1	tier1	-	no_errors	ENST00000369206	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	C	C	118893682	A	C	118893682	3	2	49	1	0	0	0	0	1	0	0	0	17183	304	11	4	306	4	VAX1	10	118893682	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	4972196	118893682	16641065	124	11849											
DOCK1	1793	genome.wustl.edu	37	chr10	129213428	129213428	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagaatatgtggatcGagagaaccatatatacaact	15	11	8	7	1	0	2	0	0	0	2	1	5	0	3	1	1	4	1	1	1	7	5	rs369679951		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:129213428G>T	ENST00000280333.6	+	44	4487	c.4378G>T	c.(4378-4380)Gag>Tag	p.E1460*		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1460	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TATGTGGATCGAGAGAACCAT	0.438																																																	0													98	103	102					10																	129213428		2005	4202	6207	SO:0001587	stop_gained	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4378G>T	10.37:g.129213428G>T	ENSP00000280333:p.Glu1460*		A9Z1Z5	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.E1460*	ENST00000280333.6	37	c.4378		10	.	.	.	.	.	.	.	.	.	.	G	45	11.553497	0.99575	.	.	ENSG00000150760	ENST00000280333	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6123	0.91290	0.0:0.0:1.0:0.0	.	.	.	.	X	1460	.	ENSP00000280333:E1460X	E	+	1	0	DOCK1	129103418	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.595000	0.98260	2.634000	0.89283	0.650000	0.86243	GAG	DOCK1	-	pfam_DOCK_C	ENSG00000150760		0.438	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2		0	75	0	G	NM_001380		129213428	1			no_errors	ENST00000280333	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	129213428	G	T	129213428	4	4	49	1	0	0	0	0	0	1	0	0	4698	1059	37	2	4552	2	DOCK1	10	129213428	Nonsense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	10319746	129213428	6321319	125	11850											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133954069	133954069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccccgtgcaccccggacGatgacttggaggaggtaacg	10	5	14	12	4	0	2	0	1	0	1	0	6	0	5	4	4	2	2	4	4	1	2	rs374337157		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr10:133954069G>A	ENST00000298622.4	+	9	1597	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	487						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CACCCCGGACGATGACTTGGA	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		12065	0		0	False		,,,				2504	0																0								G	ASN/ASP	0,3922		0,0,1961	40	46	44		1459	4.2	0.1	10		44	1,8287		0,1,4143	no	missense	JAKMIP3	NM_001105521.2	23	0,1,6104	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	487/845	133954069	1,12209	1961	4144	6105	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1459G>A	10.37:g.133954069G>A	ENSP00000298622:p.Asp487Asn		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.D487N	ENST00000298622.4	37	c.1459	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217443	0.39201	0.0	1.21E-4	ENSG00000188385	ENST00000298622	T	0.23754	1.89	4.22	4.22	0.49857	.	0.066811	0.56097	D	0.000024	T	0.26919	0.0659	L	0.48642	1.525	0.43540	D	0.995839	D	0.56521	0.976	B	0.43990	0.438	T	0.04825	-1.0924	10	0.30078	T	0.28	-22.0962	16.7501	0.85483	0.0:0.0:1.0:0.0	.	487	Q5VZ66	JKIP3_HUMAN	N	487	ENSP00000298622:D487N	ENSP00000298622:D487N	D	+	1	0	JAKMIP3	133804059	1.000000	0.71417	0.118000	0.21660	0.010000	0.07245	5.859000	0.69539	2.196000	0.70406	0.655000	0.94253	GAT	JAKMIP3	-	NULL	ENSG00000188385		0.617	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0	136	0	G	NM_194303		133954069	1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	24.39	62	20	SNP	0.963	A	A	133954069	G	A	133954069	3	1	49	1	0	0	0	0	1	0	0	0	7969	1058	37	1	1493	1	JAKMIP3	10	133954069	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	4740641	133954069	1580678	126	11851											
OR52E2	119678	genome.wustl.edu	37	chr11	5080148	5080148	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccacatgtgctgagggacTtgagtcgggcttcatgagta	10	10	13	8	1	1	3	1	3	0	0	2	4	1	4	1	2	2	3	1	2	2	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:5080148T>G	ENST00000321522.2	-	1	709	c.710A>C	c.(709-711)aAg>aCg	p.K237T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K237M(1)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTGAGGGACTTGAGTCGGGC	0.453																																																	1	Substitution - Missense(1)	lung(1)											82	76	78					11																	5080148		2201	4298	6499	SO:0001583	missense	0			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.710A>C	11.37:g.5080148T>G	ENSP00000322088:p.Lys237Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.K237T	ENST00000321522.2	37	c.710	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137525	0.56936	.	.	ENSG00000176787	ENST00000321522	T	0.00375	7.71	3.76	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.109676	0.40302	N	0.001137	T	0.01558	0.0050	H	0.97896	4.1	0.35685	D	0.814391	D	0.64830	0.994	P	0.61940	0.896	T	0.06643	-1.0815	10	0.87932	D	0	.	12.3384	0.55081	0.0:0.0:0.0:1.0	.	237	Q8NGJ4	O52E2_HUMAN	T	237	ENSP00000322088:K237T	ENSP00000322088:K237T	K	-	2	0	OR52E2	5036724	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.570000	0.36439	1.963000	0.57068	0.524000	0.50904	AAG	OR52E2	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176787		0.453	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	-	0	33	0	T	NM_001005164		5080148	-1	tier1	-	no_errors	ENST00000321522	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	G	G	5080148	T	G	5080148	3	3	49	1	0	0	0	0	1	0	0	0	11154	1609	56	4	270	4	OR52E2	11	5080148	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09		5080148	129926368	127	11852											
OR52E8	390079	genome.wustl.edu	37	chr11	5878173	5878173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggtgtaaaaaaggctaAgataacaccaatatgagaac	18	8	9	6	0	0	2	0	1	0	2	0	3	0	2	1	2	3	3	1	2	8	4	rs373000239		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:5878173A>C	ENST00000537935.1	-	1	791	c.760T>G	c.(760-762)Tta>Gta	p.L254V	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAAGGCTAAGATAACACCA	0.418																																																	0													99	111	107					11																	5878173		2141	4296	6437	SO:0001583	missense	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.760T>G	11.37:g.5878173A>C	ENSP00000444054:p.Leu254Val		B9EH38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L254V	ENST00000537935.1	37	c.760	CCDS31400.1	11	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097761	0.56075	.	.	ENSG00000183269	ENST00000537935	T	0.33654	1.4	4.42	0.83	0.18854	GPCR, rhodopsin-like superfamily (1);	0.153894	0.30101	N	0.010417	T	0.48502	0.1503	M	0.70275	2.135	0.26935	N	0.966377	D	0.55605	0.972	P	0.61658	0.892	T	0.35624	-0.9781	10	0.38643	T	0.18	.	7.5817	0.27970	0.7405:0.0:0.2595:0.0	.	254	Q6IFG1	O52E8_HUMAN	V	254	ENSP00000444054:L254V	ENSP00000444054:L254V	L	-	1	2	OR52E8	5834749	0.000000	0.05858	0.996000	0.52242	0.912000	0.54170	0.220000	0.17660	0.045000	0.15804	0.448000	0.29417	TTA	OR52E8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183269		0.418	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	HGNC	protein_coding	OTTHUMT00000401145.1	-	0	33	0	A	NM_001005168		5878173	-1	tier1	-	no_errors	ENST00000537935	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.978	C	C	5878173	A	C	5878173	3	2	49	1	0	0	0	0	1	0	0	0	11157	69	3	4	195	4	OR52E8	11	5878173	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	798025	5878173	129128343	128	11853											
CCKBR	887	genome.wustl.edu	37	chr11	6291950	6291950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacgggcttatctctcGcgagctctacttagggcttc	5	12	11	13	3	2	0	0	0	2	0	5	1	2	0	1	3	3	3	1	3	4	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:6291950G>A	ENST00000334619.2	+	4	921	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CCKBR_ENST00000525462.1_Missense_Mutation_p.R243H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R159H	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	243					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTTATCTCTCGCGAGCTCTAC	0.592																																																	0													157	115	129					11																	6291950		2201	4296	6497	SO:0001583	missense	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.728G>A	11.37:g.6291950G>A	ENSP00000335544:p.Arg243His		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R243H	ENST00000334619.2	37	c.728	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742066	0.89573	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.39592	1.07;1.07;1.07	5.79	5.79	0.91817	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	M	0.74881	2.28	0.80722	D	1	P;D;D	0.60575	0.632;0.988;0.979	B;B;P	0.52514	0.147;0.445;0.701	T	0.53358	-0.8450	10	0.30078	T	0.28	.	18.5901	0.91208	0.0:0.0:1.0:0.0	.	243;177;243	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	H	243;159;243	ENSP00000335544:R243H;ENSP00000432079:R159H;ENSP00000435534:R243H	ENSP00000335544:R243H	R	+	2	0	CCKBR	6248526	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	6.621000	0.74228	2.735000	0.93741	0.655000	0.94253	CGC	CCKBR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt	ENSG00000110148		0.592	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	-	0	43	0	G	NM_176875		6291950	1	tier1	-	no_errors	ENST00000525462	ensembl	human	known	74_37	missense	47.50	21	19	SNP	1.000	A	A	6291950	G	A	6291950	3	1	49	1	0	0	0	0	1	0	0	0	2888	1087	38	1	742	1	CCKBR	11	6291950	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	413777	6291950	128714566	129	11854											
ZNF215	7762	genome.wustl.edu	37	chr11	6953724	6953724	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaactctgggagctctgtcTtcaatggctgagaccagaga	10	9	11	11	0	4	2	1	1	3	2	4	5	4	3	2	2	2	2	2	2	2	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:6953724T>G	ENST00000278319.5	+	3	809	c.221T>G	c.(220-222)cTt>cGt	p.L74R	ZNF215_ENST00000529903.1_Missense_Mutation_p.L74R|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Missense_Mutation_p.L74R	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	74	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAGCTCTGTCTTCAATGGCTG	0.473																																																	0													70	74	73					11																	6953724		2201	4296	6497	SO:0001583	missense	0			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.221T>G	11.37:g.6953724T>G	ENSP00000278319:p.Leu74Arg		Q96C84	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L74R	ENST00000278319.5	37	c.221	CCDS7775.1	11	.	.	.	.	.	.	.	.	.	.	T	11.10	1.539994	0.27563	.	.	ENSG00000149054	ENST00000278319;ENST00000414517;ENST00000529903	T;T;T	0.04706	3.57;3.57;3.57	4.01	2.85	0.33270	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.503504	0.14919	N	0.290787	T	0.05456	0.0144	N	0.11131	0.1	0.27176	N	0.9608	D;D;P	0.54772	0.968;0.968;0.863	P;P;P	0.58331	0.837;0.837;0.728	T	0.40664	-0.9551	10	0.23891	T	0.37	-1.3864	6.65	0.22957	0.2112:0.0:0.0:0.7888	.	74;74;74	B4DYW9;Q96C84;Q9UL58	.;.;ZN215_HUMAN	R	74	ENSP00000278319:L74R;ENSP00000393202:L74R;ENSP00000432306:L74R	ENSP00000278319:L74R	L	+	2	0	ZNF215	6910300	0.994000	0.37717	0.979000	0.43373	0.911000	0.54048	0.178000	0.16820	0.832000	0.34804	0.459000	0.35465	CTT	ZNF215	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000149054		0.473	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1	-	0	28	0	T			6953724	1	tier1	-	no_errors	ENST00000278319	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.988	G	G	6953724	T	G	6953724	3	3	49	1	0	0	0	0	1	0	0	0	17819	1609	56	4	223	4	ZNF215	11	6953724	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	661774	6953724	128052792	130	11855											
ABCC8	6833	genome.wustl.edu	37	chr11	17498306	17498306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgagtggttctcgctgccGcagaaggccaggggcatggc	6	6	17	12	3	1	1	0	0	1	1	2	2	1	1	3	5	1	4	3	5	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:17498306G>A	ENST00000389817.3	-	1	86	c.18C>T	c.(16-18)tgC>tgT	p.C6C	ABCC8_ENST00000302539.4_Silent_p.C6C			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	6					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TCTCGCTGCCGCAGAAGGCCA	0.721																																																	0													18	19	19					11																	17498306		2190	4285	6475	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.18C>T	11.37:g.17498306G>A			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.C6	ENST00000389817.3	37	c.18	CCDS31437.1	11																																																																																			ABCC8	-	NULL	ENSG00000006071		0.721	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	27	0	G	NM_000352		17498306	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	26.32	14	5	SNP	1.000	A	A	17498306	G	A	17498306	2	1	49	1	0	0	0	0	0	0	0	1	58	1079	38	1		1	ABCC8	11	17498306	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	10544582	17498306	117508210	131	11856											
OR8K3	219473	genome.wustl.edu	37	chr11	56086621	56086621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccatattttacaccctggTtatccccatgttgaatccct	8	16	4	13	0	0	1	0	1	0	0	3	1	3	1	5	1	1	2	5	1	4	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:56086621T>C	ENST00000312711.1	+	1	839	c.839T>C	c.(838-840)gTt>gCt	p.V280A		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TACACCCTGGTTATCCCCATG	0.373																																																	0													84	74	77					11																	56086621		2201	4296	6497	SO:0001583	missense	0			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.839T>C	11.37:g.56086621T>C	ENSP00000323555:p.Val280Ala		Q6IFC4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V280A	ENST00000312711.1	37	c.839	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551807	0.27739	.	.	ENSG00000181689	ENST00000312711	T	0.00296	8.24	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.123718	0.36234	N	0.002715	T	0.00666	0.0022	M	0.86097	2.795	0.09310	N	1	D	0.59767	0.986	D	0.65233	0.933	T	0.31916	-0.9926	10	0.87932	D	0	.	12.487	0.55879	0.0:0.0:0.0:1.0	.	280	Q8NH51	OR8K3_HUMAN	A	280	ENSP00000323555:V280A	ENSP00000323555:V280A	V	+	2	0	OR8K3	55843197	0.994000	0.37717	0.029000	0.17559	0.007000	0.05969	5.858000	0.69532	1.888000	0.54679	0.386000	0.25728	GTT	OR8K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181689		0.373	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	-	0	49	0	T	NM_001005202		56086621	1	tier1	-	no_errors	ENST00000312711	ensembl	human	known	74_37	missense	31.91	32	15	SNP	0.040	C	C	56086621	T	C	56086621	3	2	49	1	0	0	0	0	1	0	0	0	11283	1725	60	4	841	4	OR8K3	11	56086621	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	38588315	56086621	78919895	132	11857											
NOX4	50507	genome.wustl.edu	37	chr11	89165982	89165982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagaggctgtgatcatgAggaatagcaccaccaccatg	13	8	11	9	0	1	3	1	2	0	1	1	4	1	4	3	2	1	3	3	2	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:89165982A>G	ENST00000263317.4	-	7	756	c.518T>C	c.(517-519)cTc>cCc	p.L173P	NOX4_ENST00000534731.1_Missense_Mutation_p.L173P|NOX4_ENST00000525196.1_Missense_Mutation_p.L173P|NOX4_ENST00000532825.1_Missense_Mutation_p.L149P|NOX4_ENST00000413594.2_Missense_Mutation_p.L194P|NOX4_ENST00000343727.5_Missense_Mutation_p.L149P|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.L148P|NOX4_ENST00000527956.1_Missense_Mutation_p.L149P|NOX4_ENST00000535633.1_Missense_Mutation_p.L149P|NOX4_ENST00000542487.1_Missense_Mutation_p.L149P|NOX4_ENST00000424319.1_Missense_Mutation_p.L149P|NOX4_ENST00000527626.1_Missense_Mutation_p.L7P			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	173	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TGTGATCATGAGGAATAGCAC	0.343																																																	0													91	85	87					11																	89165982		2201	4299	6500	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.518T>C	11.37:g.89165982A>G	ENSP00000263317:p.Leu173Pro		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L194P	ENST00000263317.4	37	c.581	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	A	19.14	3.770420	0.69992	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D;D	0.95447	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.71;-3.14;-3.14	5.8	5.8	0.92144	Flavoprotein transmembrane component (1);	0.071736	0.56097	D	0.000032	D	0.97911	0.9313	M	0.90252	3.1	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.91635	0.979;0.959;0.998;0.995;0.999;0.993	D	0.98611	1.0663	9	.	.	.	-11.9912	12.5301	0.56109	1.0:0.0:0.0:0.0	.	149;7;148;173;173;173	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	P	149;149;149;173;173;173;149;149;149;7;148;194	ENSP00000412446:L149P;ENSP00000440172:L149P;ENSP00000344747:L149P;ENSP00000436892:L173P;ENSP00000436716:L173P;ENSP00000263317:L173P;ENSP00000434924:L149P;ENSP00000433797:L149P;ENSP00000439373:L149P;ENSP00000436093:L7P;ENSP00000436970:L148P;ENSP00000405705:L194P	.	L	-	2	0	NOX4	88805630	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.808000	0.62583	2.219000	0.72066	0.533000	0.62120	CTC	NOX4	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000086991		0.343	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1		0	21	0	A	NM_016931		89165982	-1			no_errors	ENST00000413594	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	G	G	89165982	A	G	89165982	3	3	49	1	0	0	0	0	1	0	0	0	10597	304	11	4	1266	4	NOX4	11	89165982	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	33079361	89165982	45840534	133	11858											
GUCY1A2	2977	genome.wustl.edu	37	chr11	106558367	106558367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggctttggtggctttgGaccagtccttacctccagga	8	11	12	10	0	0	1	0	0	0	1	2	3	2	3	4	5	1	2	4	5	2	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:106558367G>T	ENST00000526355.2	-	8	2575	c.2107C>A	c.(2107-2109)Cca>Aca	p.P703T	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P734T|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P724T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	703					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GGTGGCTTTGGACCAGTCCTT	0.478																																																	0													148	148	148					11																	106558367		2201	4298	6499	SO:0001583	missense	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2107C>A	11.37:g.106558367G>T	ENSP00000431245:p.Pro703Thr		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P734T	ENST00000526355.2	37	c.2200	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905610	0.33628	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86497	-1.8;-2.13;-1.79	5.38	5.38	0.77491	.	0.169997	0.28031	U	0.016867	T	0.76485	0.3994	N	0.08118	0	0.44825	D	0.99783	P;B;P	0.39665	0.682;0.241;0.546	B;B;B	0.35550	0.205;0.08;0.205	T	0.80094	-0.1526	10	0.51188	T	0.08	.	18.4699	0.90769	0.0:0.0:1.0:0.0	.	724;734;703	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	T	703;734;724	ENSP00000431245:P703T;ENSP00000282249:P734T;ENSP00000344874:P724T	ENSP00000282249:P734T	P	-	1	0	GUCY1A2	106063577	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.389000	0.79806	2.689000	0.91719	0.305000	0.20034	CCA	GUCY1A2	-	superfamily_A/G_cyclase	ENSG00000152402		0.478	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2		0	102	0	G			106558367	-1			no_errors	ENST00000282249	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	106558367	G	T	106558367	3	4	49	1	0	0	0	0	1	0	0	0	6920	1174	41	3	95	3	GUCY1A2	11	106558367	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	17392385	106558367	28448149	134	11859											
ZC3H12C	85463	genome.wustl.edu	37	chr11	110035171	110035171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgccatgtctagaaataCggcagccaaaactgcaaacg	14	6	9	12	3	1	1	0	0	1	1	1	1	1	1	3	1	6	2	3	1	6	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:110035171C>T	ENST00000278590.3	+	6	1412	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T455M|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.T423M	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	454							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TCTAGAAATACGGCAGCCAAA	0.498																																																	0													59	61	60					11																	110035171		1928	4140	6068	SO:0001583	missense	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.1361C>T	11.37:g.110035171C>T	ENSP00000278590:p.Thr454Met		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.T454M	ENST00000278590.3	37	c.1361	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587661	0.46110	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.31769	1.48;1.48;1.49	5.85	5.85	0.93711	.	0.179430	0.50627	D	0.000117	T	0.28665	0.0710	N	0.08118	0	0.37360	D	0.911184	D;D;D	0.67145	0.99;0.996;0.996	P;P;P	0.53689	0.572;0.732;0.732	T	0.32455	-0.9906	10	0.62326	D	0.03	-19.3538	15.635	0.76944	0.0:0.8634:0.1366:0.0	.	455;454;454	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	M	454;455;423	ENSP00000278590:T454M;ENSP00000431821:T455M;ENSP00000413094:T423M	ENSP00000278590:T454M	T	+	2	0	ZC3H12C	109540381	0.998000	0.40836	0.975000	0.42487	0.407000	0.30961	3.224000	0.51238	2.771000	0.95319	0.561000	0.74099	ACG	ZC3H12C	-	NULL	ENSG00000149289		0.498	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	-	0	48	0	C	NM_033390		110035171	1	tier1	-	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.876	T	T	110035171	C	T	110035171	3	4	49	1	0	0	0	0	1	0	0	0	17611	536	19	1	1383	1	ZC3H12C	11	110035171	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	3476804	110035171	24971345	135	11860											
ZBTB16	7704	genome.wustl.edu	37	chr11	114118040	114118040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcaatggctgtggcaagaAgttcagcctcaagcatcagc	11	8	12	10	0	3	1	3	0	0	1	3	1	3	1	1	2	4	5	1	2	4	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:114118040A>G	ENST00000335953.4	+	6	2125	c.1745A>G	c.(1744-1746)aAg>aGg	p.K582R	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.K582R	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	582					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGTGGCAAGAAGTTCAGCCTC	0.597																																																	0													98	77	84					11																	114118040		2201	4296	6497	SO:0001583	missense	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1745A>G	11.37:g.114118040A>G	ENSP00000338157:p.Lys582Arg		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K582R	ENST00000335953.4	37	c.1745	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	a	13.40	2.224754	0.39300	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.17691	2.26;2.26	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065068	0.64402	D	0.000012	T	0.23649	0.0572	N	0.05619	-0.005	0.50632	D	0.99988	D	0.69078	0.997	D	0.80764	0.994	T	0.30650	-0.9971	10	0.59425	D	0.04	.	15.7234	0.77732	1.0:0.0:0.0:0.0	.	582	Q05516	ZBT16_HUMAN	R	582;582;459	ENSP00000338157:K582R;ENSP00000376721:K582R	ENSP00000309507:K459R	K	+	2	0	ZBTB16	113623250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.239000	0.95389	2.113000	0.64589	0.529000	0.55759	AAG	ZBTB16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000109906		0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	-	0	44	0	A	NM_006006		114118040	1	tier1	-	no_errors	ENST00000335953	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	G	G	114118040	A	G	114118040	3	3	49	1	0	0	0	0	1	0	0	0	17574	72	3	4	1763	4	ZBTB16	11	114118040	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	4082869	114118040	20888476	136	11861											
CXCR5	643	genome.wustl.edu	37	chr11	118764738	118764738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcctaccgccaccgccGcctcctctccatccacatca	7	7	4	23	3	2	0	1	0	1	0	5	0	4	0	10	0	2	0	10	0	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:118764738G>A	ENST00000292174.4	+	2	661	c.485G>A	c.(484-486)cGc>cAc	p.R162H	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	162					B cell activation (GO:0042113)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|lymph node development (GO:0048535)|positive regulation of cytokinesis (GO:0032467)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CGCCACCGCCGCCTCCTCTCC	0.612																																																	0													59	50	53					11																	118764738		2200	4295	6495	SO:0001583	missense	0			X68829	CCDS8402.1	11q23.3	2012-08-08	2008-01-22	2008-01-22	ENSG00000160683	ENSG00000160683		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	1060	protein-coding gene	gene with protein product		601613	"Burkitt lymphoma receptor 1, GTP-binding protein", "Burkitt lymphoma receptor 1, GTP binding protein (chemokine (C-X-C motif) receptor 5)"	BLR1		1425907	Standard	NM_001716		Approved	MDR15, CD185	uc001pue.4	P32302	OTTHUMG00000166345	ENST00000292174.4:c.485G>A	11.37:g.118764738G>A	ENSP00000292174:p.Arg162His		Q14811	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_ATII_rcpt	p.R162H	ENST00000292174.4	37	c.485	CCDS8402.1	11	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434624	0.83885	.	.	ENSG00000160683	ENST00000292174	T	0.38240	1.15	3.96	3.96	0.45880	GPCR, rhodopsin-like superfamily (1);	0.063724	0.64402	D	0.000006	T	0.61388	0.2343	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.66077	-0.6013	10	0.44086	T	0.13	.	16.1885	0.81971	0.0:0.0:1.0:0.0	.	162	P32302	CXCR5_HUMAN	H	162	ENSP00000292174:R162H	ENSP00000292174:R162H	R	+	2	0	CXCR5	118269948	0.925000	0.31364	1.000000	0.80357	0.822000	0.46500	4.503000	0.60407	2.029000	0.59856	0.313000	0.20887	CGC	CXCR5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR5	ENSG00000160683		0.612	CXCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR5	HGNC	protein_coding	OTTHUMT00000389309.1	-	0	32	0	G	NM_001716		118764738	1	tier1	-	no_errors	ENST00000292174	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	A	A	118764738	G	A	118764738	3	1	49	1	0	0	0	0	1	0	0	0	4103	1087	38	1	491	1	CXCR5	11	118764738	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	4646698	118764738	16241778	137	11862											
OR10G8	219869	genome.wustl.edu	37	chr11	123901093	123901093	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcttctttggccctggtcTtttcatttacctgaggccag	4	17	9	11	0	3	1	1	1	2	0	3	1	3	1	3	3	2	1	3	3	1	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr11:123901093T>A	ENST00000431524.1	+	1	797	c.764T>A	c.(763-765)cTt>cAt	p.L255H		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGCCCTGGTCTTTTCATTTAC	0.552																																																	0													131	116	121					11																	123901093		2201	4299	6500	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"GPCR / Class A : Olfactory receptors"	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.764T>A	11.37:g.123901093T>A	ENSP00000389072:p.Leu255His		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L255H	ENST00000431524.1	37	c.764	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	T	6.548	0.469359	0.12461	.	.	ENSG00000234560	ENST00000431524	T	0.47869	0.83	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.603735	0.13714	N	0.367910	T	0.62624	0.2443	M	0.78049	2.395	0.09310	N	1	D	0.60575	0.988	D	0.64237	0.923	T	0.50947	-0.8767	10	0.87932	D	0	.	6.2939	0.21075	0.0:0.129:0.0:0.871	.	255	Q8NGN5	O10G8_HUMAN	H	255	ENSP00000389072:L255H	ENSP00000389072:L255H	L	+	2	0	OR10G8	123406303	0.001000	0.12720	0.169000	0.22859	0.019000	0.09904	1.126000	0.31344	1.319000	0.45190	0.455000	0.32223	CTT	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000234560		0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0	178	0	T	NM_001004464		123901093	1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	42.51	96	71	SNP	0.001	A	A	123901093	T	A	123901093	3	1	49	1	0	0	0	0	1	0	0	0	10942	1609	56	5	766	5	OR10G8	11	123901093	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	5136355	123901093	11105423	138	11863											
GRIN2B	2904	genome.wustl.edu	37	chr12	13769499	13769499	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctccagggtcacaatgctCagatggtcatcctcctgctc	7	11	8	15	0	3	1	3	0	0	1	8	1	7	1	4	2	2	2	4	2	1	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr12:13769499C>G	ENST00000609686.1	-	5	1427	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	406					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCACAATGCTCAGATGGTCAT	0.527																																																	0													214	190	198					12																	13769499		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1218G>C	12.37:g.13769499C>G			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L406	ENST00000609686.1	37	c.1218	CCDS8662.1	12																																																																																			GRIN2B	-	NULL	ENSG00000273079		0.527	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0	85	0	C			13769499	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	G	G	13769499	C	G	13769499	2	3	49	1	0	0	0	0	0	0	0	1	6807	813	29	5		5	GRIN2B	12	13769499	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		13769499	120082396	139	11864											
RECQL	5965	genome.wustl.edu	37	chr12	21627775	21627775	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaaggtatgtggcttacTtgcttatgttttgacagtat	11	17	9	4	0	0	1	0	1	0	0	0	1	0	1	0	2	2	5	0	2	7	8	rs577044266		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr12:21627775T>C	ENST00000444129.2	-	11	1823	c.1355A>G	c.(1354-1356)aAa>aGa	p.K452R	RECQL_ENST00000421138.2_Splice_Site_p.K452R	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	452					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTGGCTTACTTGCTTATGTT	0.328								Other identified genes with known or suspected DNA repair function					T|||	1	0.000199681	0	0	5008	,	,		19406	0		0	False		,,,				2504	0.001																0													159	152	155					12																	21627775		2203	4299	6502	SO:0001630	splice_region_variant	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1355+1A>G	12.37:g.21627775T>C			A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.K452R	ENST00000444129.2	37	c.1355	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	T	8.709	0.911665	0.17833	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.32272	1.46;1.46	5.76	2.08	0.27032	.	0.140024	0.64402	N	0.000008	T	0.09642	0.0237	N	0.02539	-0.55	0.44402	D	0.997318	B	0.06786	0.001	B	0.04013	0.001	T	0.15235	-1.0444	9	.	.	.	-3.2468	5.0401	0.14454	0.0:0.2218:0.1445:0.6338	.	452	P46063	RECQ1_HUMAN	R	452	ENSP00000416739:K452R;ENSP00000395449:K452R	.	K	-	2	0	RECQL	21519042	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.475000	0.45162	0.117000	0.18138	0.383000	0.25322	AAA	RECQL	-	tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000004700		0.328	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	-	0	42	0	T	NM_002907	Missense_Mutation	21627775	-1	tier1	-	no_errors	ENST00000421138	ensembl	human	known	74_37	missense	83.78	6	31	SNP	1.000	C	C	21627775	T	C	21627775	5	2	49	1	0	0	0	0	0	0	1	0	13246	1623	56	4	614	4	RECQL	12	21627775	Splice_Site	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	7858276	21627775	112224120	140	11865											
IRAK4	51135	genome.wustl.edu	37	chr12	44166789	44166790	+	Missense_Mutation	DNP	GG	GG	TT																															aacgacccatttctgttggtGgtaataaaatgggagaggga																										TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr12:44166789_44166790GG>TT	ENST00000448290.2	+	5	636_637	c.565_566GG>TT	c.(565-567)GGt>TTt	p.G189F	IRAK4_ENST00000440781.2_Missense_Mutation_p.G65F|IRAK4_ENST00000431837.1_Missense_Mutation_p.G65F|IRAK4_ENST00000551736.1_Missense_Mutation_p.G189F	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	189	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTCTGTTGGTGGTAATAAAATG	0.342																																																	0																																										SO:0001583	missense	0			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		Exception_encountered	12.37:g.44166789_44166790delinsTT	ENSP00000390651:p.Gly189Phe		Q69FE1|Q8TDF7|Q9Y589	Missense_Mutation|Splice_Site	SNP	pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom|-	p.G189C|e2+1	ENST00000448290.2	37	c.565|c.183+1	CCDS8744.1	12																																																																																			IRAK4	-	pirsf_IL-1_rcpt-assoc_kin4,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom|-	ENSG00000198001		0.342	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK4	HGNC	protein_coding	OTTHUMT00000403947.1	-	0	63	0	G			44166789|44166790	1	tier1	-	no_errors	ENST00000448290|ENST00000552309	ensembl	human	known	74_37	missense|splice_site	38.46	24	15	SNP	1.000|0.999	T	TT	44166790	GG	TT	44166789	3	4	49	1	0	0	0	0	1	0	0	0	7852	1348	47	3	579	3	IRAK4	12	44166789	Missense_Mutation	DNP	GG	TCGA-L5-A43E-01A-11D-A247-09	22539014	44166789	89685106	141	11866											
MLL2	8085	genome.wustl.edu	37	chr12	49426583	49426583	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgctgctgttgctgctGctgttgaaactgctgctgtt	4	16	11	10	0	1	1	0	1	1	0	1	1	1	1	0	0	8	10	0	0	1	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr12:49426583G>A	ENST00000301067.7	-	39	11904	c.11905C>T	c.(11905-11907)Cag>Tag	p.Q3969*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3969	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3699*(1)									tgttgctgctgctgttgaaac	0.522																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											57	60	59					12																	49426583		2150	4208	6358	SO:0001587	stop_gained	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11905C>T	12.37:g.49426583G>A	ENSP00000301067:p.Gln3969*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3969*	ENST00000301067.7	37	c.11905	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	g	49	15.557270	0.99838	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.63	3.73	0.42828	.	0.302441	0.19000	N	0.125365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.7244	0.28750	0.0909:0.165:0.7441:0.0	.	.	.	.	X	3969	.	ENSP00000301067:Q3969X	Q	-	1	0	MLL2	47712850	0.986000	0.35501	0.035000	0.18076	0.025000	0.11179	1.370000	0.34238	1.083000	0.41159	0.655000	0.94253	CAG	KMT2D	-	NULL	ENSG00000167548		0.522	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	76	0	G			49426583	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	28.57	35	14	SNP	0.013	A	A	49426583	G	A	49426583	4	1	49	1	0	0	0	0	0	1	0	0	9659	1328	46	3	4772	3	MLL2	12	49426583	Nonsense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	5259794	49426583	84425312	142	11867											
MLL2	8085	genome.wustl.edu	37	chr12	49433280	49433280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggcagggctgctgggctCagcaccccagctgcctggag	8	5	15	13	0	1	0	1	0	0	0	1	1	1	1	3	4	4	6	3	4	1	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr12:49433280C>T	ENST00000301067.7	-	32	8166	c.8167G>A	c.(8167-8169)Gag>Aag	p.E2723K	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2723					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CTGCTGGGCTCAGCACCCCAG	0.627																																																	0													19	20	20					12																	49433280		2017	4179	6196	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.8167G>A	12.37:g.49433280C>T	ENSP00000301067:p.Glu2723Lys		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E2723K	ENST00000301067.7	37	c.8167	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066269	0.55539	.	.	ENSG00000167548	ENST00000301067	D	0.86694	-2.16	5.45	5.45	0.79879	.	0.000000	0.38897	N	0.001527	D	0.87783	0.6264	L	0.42245	1.32	0.31300	N	0.688387	D	0.57257	0.979	P	0.49999	0.628	D	0.88380	0.3001	10	0.87932	D	0	.	18.432	0.90628	0.0:1.0:0.0:0.0	.	2723	O14686	MLL2_HUMAN	K	2723	ENSP00000301067:E2723K	ENSP00000301067:E2723K	E	-	1	0	MLL2	47719547	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	3.808000	0.55598	2.729000	0.93468	0.655000	0.94253	GAG	KMT2D	-	NULL	ENSG00000167548		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	47	0	C			49433280	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	T	T	49433280	C	T	49433280	3	4	49	1	0	0	0	0	1	0	0	0	9659	835	29	3	8538	3	MLL2	12	49433280	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	6697	49433280	84418615	143	11868											
CCDC60	160777	genome.wustl.edu	37	chr12	119968722	119968722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccagaggatctaaagaacTtccgccccgccaaaaagatc	14	6	8	13	2	1	3	0	0	1	3	3	4	2	4	5	1	2	0	5	1	5	2	rs369830128		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr12:119968722T>C	ENST00000327554.2	+	13	1870	c.1405T>C	c.(1405-1407)Ttc>Ctc	p.F469L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	469										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCTAAAGAACTTCCGCCCCGC	0.493																																																	0								T	LEU/PHE	0,4406		0,0,2203	93	91	91		1405	5.8	1	12		91	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC60	NM_178499.3	22	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging	469/551	119968722	1,13005	2203	4300	6503	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1405T>C	12.37:g.119968722T>C	ENSP00000333374:p.Phe469Leu			Missense_Mutation	SNP	NULL	p.F469L	ENST00000327554.2	37	c.1405	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297400	0.60086	0.0	1.16E-4	ENSG00000183273	ENST00000327554	T	0.22336	1.96	5.82	5.82	0.92795	.	0.377447	0.24925	N	0.034512	T	0.23451	0.0567	M	0.63428	1.95	0.80722	D	1	P	0.45531	0.86	B	0.41271	0.352	T	0.02391	-1.1166	9	.	.	.	-25.1641	10.2384	0.43297	0.0:0.0:0.1662:0.8338	.	469	Q8IWA6	CCD60_HUMAN	L	469	ENSP00000333374:F469L	.	F	+	1	0	CCDC60	118453105	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.148000	0.42235	2.220000	0.72140	0.533000	0.62120	TTC	CCDC60	-	NULL	ENSG00000183273		0.493	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	-	0	48	0	T	NM_178499		119968722	1	tier1	-	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	58.97	16	23	SNP	0.993	C	C	119968722	T	C	119968722	3	2	49	1	0	0	0	0	1	0	0	0	2838	1609	56	4	1455	4	CCDC60	12	119968722	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	70535442	119968722	13883173	144	11869											
DNAH10	196385	genome.wustl.edu	37	chr12	124341688	124341688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttttccttggtttgatttCggatctgtttcctgggctgg	2	20	11	8	1	2	1	0	1	2	0	5	2	4	2	2	4	0	3	2	4	0	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr12:124341688C>T	ENST00000409039.3	+	36	6195	c.6170C>T	c.(6169-6171)tCg>tTg	p.S2057L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2057					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTTTGATTTCGGATCTGTTT	0.537																																																	0													172	177	175					12																	124341688		2053	4191	6244	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.6170C>T	12.37:g.124341688C>T	ENSP00000386770:p.Ser2057Leu		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.S2057L	ENST00000409039.3	37	c.6170	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962189	0.53400	.	.	ENSG00000197653	ENST00000409039	T	0.42900	0.96	5.75	5.75	0.90469	.	0.000000	0.64402	U	0.000003	T	0.54759	0.1878	M	0.92077	3.27	0.80722	D	1	P	0.52692	0.955	B	0.37198	0.243	T	0.71303	-0.4633	10	0.62326	D	0.03	.	19.9522	0.97203	0.0:1.0:0.0:0.0	.	2057	Q8IVF4	DYH10_HUMAN	L	2057	ENSP00000386770:S2057L	ENSP00000386770:S2057L	S	+	2	0	DNAH10	122907641	1.000000	0.71417	0.489000	0.27452	0.135000	0.20990	4.807000	0.62576	2.725000	0.93324	0.655000	0.94253	TCG	DNAH10	-	superfamily_P-loop_NTPase	ENSG00000197653		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	121	0	C			124341688	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	74.36	20	58	SNP	1.000	T	T	124341688	C	T	124341688	3	4	49	1	0	0	0	0	1	0	0	0	4612	893	31	1	6312	1	DNAH10	12	124341688	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	4372966	124341688	9510207	145	11870											
TPTE2	93492	genome.wustl.edu	37	chr13	19997247	19997247	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagcaaattctggtggataAattttccatgctttttgttt	10	18	7	6	0	1	0	0	0	1	0	2	1	2	1	1	2	2	3	1	2	3	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:19997247A>C	ENST00000400230.2	-	20	1568	c.1524T>G	c.(1522-1524)atT>atG	p.I508M	TPTE2_ENST00000400103.2_Missense_Mutation_p.I397M|TPTE2_ENST00000457266.2_Missense_Mutation_p.I397M|TPTE2_ENST00000382975.4_Missense_Mutation_p.I468M|TPTE2_ENST00000382977.4_Missense_Mutation_p.I508M|TPTE2_ENST00000255310.6_Missense_Mutation_p.I431M|TPTE2_ENST00000382978.1_Missense_Mutation_p.I468M|TPTE2_ENST00000390680.2_Missense_Mutation_p.I431M			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	508	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTGGTGGATAAATTTTCCATG	0.368																																																	0													84	86	85					13																	19997247		2199	4299	6498	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1524T>G	13.37:g.19997247A>C	ENSP00000383089:p.Ile508Met		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.I508M	ENST00000400230.2	37	c.1524	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	a	0.399	-0.919253	0.02396	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266	D;D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	1.97	0.77	0.18497	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.139397	0.45126	U	0.000392	T	0.81903	0.4921	M	0.80616	2.505	0.29001	N	0.887494	B;B;B	0.20988	0.012;0.022;0.05	B;B;B	0.29353	0.079;0.061;0.101	T	0.70817	-0.4769	9	.	.	.	-10.1563	3.66	0.08236	0.7953:0.0:0.2047:0.0	.	397;431;508	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	M	468;397;508;431;431;508;468;397	ENSP00000372438:I468M;ENSP00000382974:I397M;ENSP00000383089:I508M;ENSP00000255310:I431M;ENSP00000375098:I431M;ENSP00000372437:I508M;ENSP00000372435:I468M;ENSP00000442218:I397M	.	I	-	3	3	TPTE2	18895247	0.994000	0.37717	0.511000	0.27724	0.065000	0.16274	0.915000	0.28638	0.221000	0.20879	0.163000	0.16589	ATT	TPTE2	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000132958		0.368	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		-	0	105	0	A	NM_199254		19997247	-1	tier1	-	no_errors	ENST00000382977	ensembl	human	known	74_37	missense	48.33	62	58	SNP	0.629	C	C	19997247	A	C	19997247	3	2	49	1	0	0	0	0	1	0	0	0	16479	10	1	4	48	4	TPTE2	13	19997247	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09		19997247	95172631	146	11871											
SACS	26278	genome.wustl.edu	37	chr13	23904431	23904431	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaaactgtctacaccataAgcttccaatgtgtgaacatc	13	13	5	10	0	1	1	0	1	1	0	3	1	2	1	2	0	4	1	2	0	6	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:23904431A>C	ENST00000382292.3	-	9	13857	c.13584T>G	c.(13582-13584)gcT>gcG	p.A4528A	SACS_ENST00000402364.1_Silent_p.A3778A|SACS_ENST00000382298.3_Silent_p.A4528A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4528	HEPN. {ECO:0000255|PROSITE- ProRule:PRU00105}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTACACCATAAGCTTCCAATG	0.403																																																	0													185	163	171					13																	23904431		2203	4300	6503	SO:0001819	synonymous_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13584T>G	13.37:g.23904431A>C			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.A4528	ENST00000382292.3	37	c.13584	CCDS9300.2	13																																																																																			SACS	-	pfam_HEPN,smart_HEPN,pfscan_HEPN	ENSG00000151835		0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	50	0	A	NM_014363		23904431	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.177	C	C	23904431	A	C	23904431	2	2	49	1	0	0	0	0	0	0	0	1	13849	59	3	4		4	SACS	13	23904431	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	3907184	23904431	91265447	147	11872											
C1QTNF9B	387911	genome.wustl.edu	37	chr13	24465623	24465623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgcagtatttttactccGtttttgaccaaagacacctg	9	15	8	9	1	0	2	0	1	0	1	1	2	1	2	3	0	2	3	3	0	3	6	rs4083570		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:24465623G>A	ENST00000382140.2	-	5	867	c.807C>T	c.(805-807)aaC>aaT	p.N269N	MIPEP_ENST00000469167.1_5'Flank|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382145.1_Missense_Mutation_p.T98M|C1QTNF9B_ENST00000382057.3_Missense_Mutation_p.T98M|C1QTNF9B_ENST00000382137.3_Silent_p.N269N|C1QTNF9B-AS1_ENST00000417034.1_RNA|MIPEP_ENST00000382172.3_5'Flank			B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	269	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						TTTTTACTCCGTTTTTGACCA	0.507																																																	0													137	117	124					13																	24465623		2203	4300	6503	SO:0001819	synonymous_variant	0			BC110413	CCDS31947.1	13q12.12	2011-05-08			ENSG00000205863	ENSG00000205863			34072	protein-coding gene	gene with protein product		614148				17544811	Standard	NM_001007537		Approved	CTRP9B	uc010tcv.1	B2RNN3	OTTHUMG00000016570	ENST00000382140.2:c.807C>T	13.37:g.24465623G>A			A2A3T6|B9EH31|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	pfam_Collagen	p.T98M	ENST00000382140.2	37	c.293	CCDS31947.1	13	.	.	.	.	.	.	.	.	.	.	g	0.007	-2.002413	0.00431	.	.	ENSG00000205863	ENST00000382145;ENST00000382057	D;D	0.89343	-2.5;-2.5	3.96	-5.77	0.02369	.	.	.	.	.	D	0.88351	0.6413	.	.	.	0.19945	N	0.999942	.	.	.	.	.	.	T	0.82481	-0.0436	6	0.52906	T	0.07	.	15.0983	0.72253	0.4662:0.0:0.5338:0.0	rs4083570	.	.	.	M	98	ENSP00000371580:T98M;ENSP00000371489:T98M	ENSP00000371489:T98M	T	-	2	0	C1QTNF9B	23363623	0.000000	0.05858	0.269000	0.24586	0.053000	0.15095	-1.610000	0.02064	-1.672000	0.01464	-2.013000	0.00436	ACG	C1QTNF9B	-	NULL	ENSG00000205863		0.507	C1QTNF9B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	C1QTNF9B	HGNC	protein_coding	OTTHUMT00000044162.3	-	0	111	0	G	NM_001007537		24465623	-1	tier1	rs4083570	no_errors	ENST00000382057	ensembl	human	known	74_37	missense	11.76	135	18	SNP	0.289	A	A	24465623	G	A	24465623	2	1	49	1	0	0	0	0	0	0	0	1	1978	1136	40	1		1	C1QTNF9B	13	24465623	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	561192	24465623	90704255	148	11873											
MTUS2	23281	genome.wustl.edu	37	chr13	29601027	29601027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagtcaaatgagtgaaaAgtttttgcaggaggtaagag	14	12	12	3	0	2	3	2	2	0	1	2	4	2	4	0	2	1	3	0	2	4	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:29601027A>G	ENST00000431530.3	+	1	2280	c.2222A>G	c.(2221-2223)aAg>aGg	p.K741R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	731	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.K741T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGAGTGAAAAGTTTTTGCAG	0.403																																																	1	Substitution - Missense(1)	stomach(1)											53	54	54					13																	29601027		1859	4090	5949	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2222A>G	13.37:g.29601027A>G	ENSP00000392057:p.Lys741Arg		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.K741R	ENST00000431530.3	37	c.2222	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	a	19.28	3.797371	0.70567	.	.	ENSG00000132938	ENST00000431530	T	0.19105	2.17	6.17	4.97	0.65823	.	0.094048	0.45867	D	0.000324	T	0.41834	0.1176	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.16335	-1.0406	9	.	.	.	.	12.809	0.57629	0.8634:0.1366:0.0:0.0	.	731	Q5JR59	MTUS2_HUMAN	R	741	ENSP00000392057:K741R	.	K	+	2	0	MTUS2	28499027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.302000	0.72788	1.119000	0.41883	0.533000	0.62120	AAG	MTUS2	-	NULL	ENSG00000132938		0.403	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	17	0	A	XM_166270		29601027	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	G	G	29601027	A	G	29601027	3	3	49	1	0	0	0	0	1	0	0	0	10004	72	3	4	2224	4	MTUS2	13	29601027	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	5135404	29601027	85568851	149	11874											
NBEA	26960	genome.wustl.edu	37	chr13	35733224	35733224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagacaagaggaggaaaaCattaaaaagggaaagaaagg	24	2	12	3	0	0	3	0	0	0	3	0	6	0	6	0	4	1	0	0	4	9	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:35733224C>T	ENST00000400445.3	+	22	3450	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	NBEA_ENST00000540320.1_Silent_p.N972N|NBEA_ENST00000379939.2_Silent_p.N972N|NBEA_ENST00000310336.4_Silent_p.N972N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	972					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGAGGAAAACATTAAAAAGG	0.378																																																	0													84	77	80					13																	35733224		1880	4109	5989	SO:0001819	synonymous_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2916C>T	13.37:g.35733224C>T			B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.N972	ENST00000400445.3	37	c.2916	CCDS45026.1	13																																																																																			NBEA	-	NULL	ENSG00000172915		0.378	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	32	0	C	NM_015678		35733224	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	silent	39.47	23	15	SNP	1.000	T	T	35733224	C	T	35733224	2	4	49	1	0	0	0	0	0	0	0	1	10225	477	17	3		3	NBEA	13	35733224	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	6132197	35733224	79436654	150	11875											
NBEA	26960	genome.wustl.edu	37	chr13	36141112	36141112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaactatgaatcagaagaGttggacctgactcttccagg	13	9	9	10	0	2	4	1	2	1	2	3	5	3	5	3	2	1	1	3	2	4	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:36141112G>T	ENST00000400445.3	+	45	7527	c.6993G>T	c.(6991-6993)gaG>gaT	p.E2331D	NBEA_ENST00000540320.1_Missense_Mutation_p.E2331D|NBEA_ENST00000379939.2_Missense_Mutation_p.E2328D|NBEA_ENST00000537702.1_Missense_Mutation_p.E124D|NBEA_ENST00000310336.4_Missense_Mutation_p.E2331D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2331	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATCAGAAGAGTTGGACCTGA	0.343																																																	0													122	117	118					13																	36141112		1817	4082	5899	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6993G>T	13.37:g.36141112G>T	ENSP00000383295:p.Glu2331Asp		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.E2331D	ENST00000400445.3	37	c.6993	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	13.95	2.388801	0.42308	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41	5.96	-0.63	0.11530	BEACH domain (4);	0.043688	0.85682	D	0.000000	T	0.68476	0.3005	L	0.35487	1.065	0.48135	D	0.999592	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55528	-0.8127	10	0.38643	T	0.18	.	12.7307	0.57197	0.3767:0.0:0.6233:0.0	.	2331;2328	Q8NFP9;Q5T321	NBEA_HUMAN;.	D	2331;2331;2328;2331;958;124;124	ENSP00000440951:E2331D;ENSP00000383295:E2331D;ENSP00000369271:E2328D;ENSP00000308534:E2331D;ENSP00000440233:E124D	ENSP00000308534:E2331D	E	+	3	2	NBEA	35039112	1.000000	0.71417	0.820000	0.32676	0.973000	0.67179	0.725000	0.25970	-0.329000	0.08527	-1.044000	0.02363	GAG	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	47	0	G	NM_015678		36141112	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	T	T	36141112	G	T	36141112	3	4	49	1	0	0	0	0	1	0	0	0	10225	1020	36	3	7171	3	NBEA	13	36141112	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	407888	36141112	79028766	151	11876											
OLFM4	10562	genome.wustl.edu	37	chr13	53608501	53608501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgttttccaatttcaccGgctccgtggatgaccgtggg	6	13	12	10	3	1	1	1	1	0	0	3	2	3	2	4	3	0	3	4	3	1	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:53608501G>A	ENST00000219022.2	+	2	301	c.223G>A	c.(223-225)Ggc>Agc	p.G75S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	75					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAATTTCACCGGCTCCGTGGA	0.483																																																	0													155	132	140					13																	53608501		2203	4300	6503	SO:0001583	missense	0			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.223G>A	13.37:g.53608501G>A	ENSP00000219022:p.Gly75Ser		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.G75S	ENST00000219022.2	37	c.223	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383253	0.61845	.	.	ENSG00000102837	ENST00000219022	D	0.90444	-2.67	5.28	5.28	0.74379	.	0.058192	0.64402	D	0.000003	D	0.91071	0.7190	M	0.69823	2.125	0.58432	D	0.999993	D	0.55800	0.973	P	0.47376	0.545	D	0.89024	0.3437	10	0.19590	T	0.45	.	17.0595	0.86543	0.0:0.0:1.0:0.0	.	75	Q6UX06	OLFM4_HUMAN	S	75	ENSP00000219022:G75S	ENSP00000219022:G75S	G	+	1	0	OLFM4	52506502	1.000000	0.71417	0.887000	0.34795	0.362000	0.29581	6.338000	0.72963	2.630000	0.89119	0.655000	0.94253	GGC	OLFM4	-	NULL	ENSG00000102837		0.483	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2	-	0	74	0	G	NM_006418		53608501	1	tier1	-	no_errors	ENST00000219022	ensembl	human	known	74_37	missense	42.53	50	37	SNP	0.995	A	A	53608501	G	A	53608501	3	1	49	1	0	0	0	0	1	0	0	0	10894	1116	39	1	229	1	OLFM4	13	53608501	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	17467389	53608501	61561377	152	11877											
LMO7	4008	genome.wustl.edu	37	chr13	76374826	76374826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgttttctttaggcactcGaagactccagcttcctgaaa	11	12	7	11	2	1	2	0	1	1	1	4	3	3	2	2	1	2	3	2	1	4	5	rs200309758		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:76374826G>A	ENST00000341547.4	+	8	1885	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.E209K|LMO7_ENST00000526202.1_Missense_Mutation_p.E118K|LMO7_ENST00000321797.8_5'UTR|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Missense_Mutation_p.E209K	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	209					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTAGGCACTCGAAGACTCCAG	0.388																																																	0								G	LYS/GLU,	0,4406		0,0,2203	69	70	70		625,	5.8	1	13		70	1,8599	1.2+/-3.3	0,1,4299	yes	missense,utr-5	LMO7	NM_005358.5,NM_015842.2	56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	209/1350,	76374826	1,13005	2203	4300	6503	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.625G>A	13.37:g.76374826G>A	ENSP00000342112:p.Glu209Lys		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E209K	ENST00000341547.4	37	c.625	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880803	0.91740	0.0	1.16E-4	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.76	5.82	5.82	0.92795	.	0.120045	0.56097	D	0.000025	T	0.75889	0.3911	M	0.71581	2.175	0.44807	D	0.997818	D;D;D	0.89917	0.992;0.999;1.0	P;P;D	0.66084	0.608;0.803;0.941	T	0.76550	-0.2918	10	0.66056	D	0.02	-23.7706	20.089	0.97809	0.0:0.0:1.0:0.0	.	118;209;157	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	K	209;209;209;157;118	ENSP00000342112:E209K;ENSP00000349571:E209K;ENSP00000366757:E209K;ENSP00000366719:E157K;ENSP00000431129:E118K	ENSP00000342112:E209K	E	+	1	0	LMO7	75272827	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.920000	0.75799	2.765000	0.95021	0.591000	0.81541	GAA	LMO7	-	superfamily_CH-domain	ENSG00000136153		0.388	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	-	0	51	0	G	NM_005358		76374826	1	tier1	rs200309758	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	76374826	G	A	76374826	3	1	49	1	0	0	0	0	1	0	0	0	8885	1059	37	1	655	1	LMO7	13	76374826	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	22766325	76374826	38795052	153	11878											
EDNRB	1910	genome.wustl.edu	37	chr13	78492695	78492695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcgtccgcacagacttGgaggcggctgcatgctgcta	6	7	16	12	4	0	1	0	0	0	1	1	2	1	2	1	4	3	5	1	4	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:78492695G>A	ENST00000334286.5	-	1	250	c.14C>T	c.(13-15)cCa>cTa	p.P5L	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.P5L|EDNRB_ENST00000377211.4_Missense_Mutation_p.P95L|EDNRB_ENST00000475537.1_5'UTR	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	5			P -> T (in dbSNP:rs12720160). {ECO:0000269|Ref.14}.		aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCACAGACTTGGAGGCGGCTG	0.647											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23	26	25					13																	78492695		2203	4300	6503	SO:0001583	missense	0			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.14C>T	13.37:g.78492695G>A	ENSP00000335311:p.Pro5Leu	1183	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.P5L	ENST00000334286.5	37	c.14	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	G	8.457	0.854416	0.17106	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.35605	1.3;1.3;1.3	4.11	2.35	0.29111	.	1.140030	0.06352	N	0.710086	T	0.21307	0.0513	N	0.12182	0.205	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.18493	-1.0335	10	0.39692	T	0.17	1.3306	5.9371	0.19171	0.2372:0.0:0.7628:0.0	.	5;95;5	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	L	95;5;5	ENSP00000366416:P95L;ENSP00000403401:P5L;ENSP00000335311:P5L	ENSP00000335311:P5L	P	-	2	0	EDNRB	77390696	0.002000	0.14202	0.013000	0.15412	0.322000	0.28314	0.546000	0.23284	1.075000	0.40932	0.591000	0.81541	CCA	EDNRB	-	prints_ETB_rcpt	ENSG00000136160		0.647	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1	-	0	37	0	G			78492695	-1	tier1	-	no_errors	ENST00000334286	ensembl	human	known	74_37	missense	41.51	31	22	SNP	0.002	A	A	78492695	G	A	78492695	3	1	49	1	0	0	0	0	1	0	0	0	4934	1348	47	3	1463	3	EDNRB	13	78492695	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	2117869	78492695	36677183	154	11879											
NALCN	259232	genome.wustl.edu	37	chr13	101890257	101890257	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtgcttccaaatcaaaaAgtactgtaaaagccacctag	17	8	7	9	0	1	0	1	0	0	0	2	1	2	0	3	0	3	3	3	0	8	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr13:101890257A>C	ENST00000251127.6	-	12	1364	c.1283T>G	c.(1282-1284)cTt>cGt	p.L428R	NALCN_ENST00000376196.3_Missense_Mutation_p.L428R|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	428					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAAATCAAAAAGTACTGTAAA	0.308																																																	0													90	98	95					13																	101890257		2203	4299	6502	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1283T>G	13.37:g.101890257A>C	ENSP00000251127:p.Leu428Arg		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L428R	ENST00000251127.6	37	c.1283	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349055	0.61183	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98701	-5.08;-5.08	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.979;0.995	D	0.98945	1.0792	10	0.87932	D	0	.	15.4116	0.74929	1.0:0.0:0.0:0.0	.	428;428;428	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	R	428	ENSP00000251127:L428R;ENSP00000365367:L428R	ENSP00000251127:L428R	L	-	2	0	NALCN	100688258	1.000000	0.71417	0.358000	0.25811	0.610000	0.37248	8.904000	0.92590	2.096000	0.63516	0.402000	0.26972	CTT	NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.308	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	33	0	A	NM_052867		101890257	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	51.11	22	23	SNP	0.998	C	C	101890257	A	C	101890257	3	2	49	1	0	0	0	0	1	0	0	0	10186	72	3	4	4065	4	NALCN	13	101890257	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	23397562	101890257	13279621	155	11880											
PRKD1	5587	genome.wustl.edu	37	chr14	30046521	30046521	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtcactgtggctagcacTtggattgatcaggtgtgtgg	7	13	15	6	0	2	1	2	1	0	0	2	2	2	2	0	4	1	2	0	4	1	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr14:30046521T>G	ENST00000331968.5	-	18	2891	c.2662A>C	c.(2662-2664)Agt>Cgt	p.S888R	PRKD1_ENST00000415220.2_Missense_Mutation_p.S896R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	888					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGCTAGCACTTGGATTGATC	0.522																																																	0													145	120	128					14																	30046521		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2662A>C	14.37:g.30046521T>G	ENSP00000333568:p.Ser888Arg		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.S888R	ENST00000331968.5	37	c.2662	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	T	10.93	1.490279	0.26686	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.65364	-0.15;-0.15	6.03	3.66	0.41972	Protein kinase-like domain (1);	0.308843	0.36268	N	0.002696	T	0.41766	0.1173	N	0.22421	0.69	0.09310	N	1	B	0.27380	0.177	B	0.20955	0.032	T	0.18555	-1.0333	10	0.23302	T	0.38	-6.779	7.8295	0.29334	0.0:0.0657:0.2617:0.6726	.	888	Q15139	KPCD1_HUMAN	R	888;896	ENSP00000333568:S888R;ENSP00000390535:S896R	ENSP00000333568:S888R	S	-	1	0	PRKD1	29116272	0.000000	0.05858	0.324000	0.25361	0.947000	0.59692	0.555000	0.23422	0.518000	0.28383	0.533000	0.62120	AGT	PRKD1	-	superfamily_Kinase-like_dom	ENSG00000184304		0.522	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0	58	0	T	NM_002742		30046521	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	43.55	35	27	SNP	0.000	G	G	30046521	T	G	30046521	3	3	49	1	0	0	0	0	1	0	0	0	12560	1609	56	4	80	4	PRKD1	14	30046521	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09		30046521	77303019	156	11881											
FANCM	57697	genome.wustl.edu	37	chr14	45645573	45645573	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagttttaaatctcgtgatCagagaggtgtacaggaagaa	15	11	11	4	1	2	3	1	1	1	2	3	5	2	4	0	2	1	2	0	2	6	4	rs377167890		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr14:45645573C>T	ENST00000267430.5	+	14	3701	c.3616C>T	c.(3616-3618)Cag>Tag	p.Q1206*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q1180*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1206					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATCTCGTGATCAGAGAGGTGT	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													81	82	81					14																	45645573		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3616C>T	14.37:g.45645573C>T	ENSP00000267430:p.Gln1206*		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1206*	ENST00000267430.5	37	c.3616	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.483|9.483	1.098701|1.098701	0.20552|0.20552	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	.|.	.|.	.|.	5.5|5.5	-2.62|-2.62	0.06152|0.06152	.|.	1.475890|.	0.04460|.	N|.	0.374151|.	.|T	.|0.26304	.|0.0642	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34875	.|-0.9811	.|3	0.05959|.	T|.	0.93|.	.|.	3.8337|3.8337	0.08885|0.08885	0.121:0.0749:0.3948:0.4093|0.121:0.0749:0.3948:0.4093	.|.	.|.	.|.	.|.	X|L	1206;1180;722|138	.|.	ENSP00000267430:Q1206X|.	Q|S	+|+	1|2	0|0	FANCM|FANCM	44715323|44715323	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.004000|0.004000	0.04260|0.04260	-0.656000|-0.656000	0.05342|0.05342	-0.231000|-0.231000	0.09825|0.09825	-0.423000|-0.423000	0.05987|0.05987	CAG|TCA	FANCM	-	NULL	ENSG00000187790		0.353	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	64	0	C	XM_048128		45645573	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	nonsense	30.26	53	23	SNP	0.000	T	T	45645573	C	T	45645573	4	4	49	1	0	0	0	0	0	1	0	0	5693	827	29	3	3670	3	FANCM	14	45645573	Nonsense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	15599052	45645573	61703967	157	11882											
KCNK13	56659	genome.wustl.edu	37	chr14	90650580	90650580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctgatcaccatcatcGcctacatcatgaagtcgtgc	10	9	8	14	3	3	2	3	2	0	0	5	2	3	2	3	0	3	0	3	0	2	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr14:90650580G>A	ENST00000282146.4	+	2	901	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	154					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A154T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CACCATCATCGCCTACATCAT	0.567																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											92	95	94					14																	90650580		2203	4300	6503	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.460G>A	14.37:g.90650580G>A	ENSP00000282146:p.Ala154Thr		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.A154T	ENST00000282146.4	37	c.460	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224152	0.58668	.	.	ENSG00000152315	ENST00000282146	T	0.24908	1.83	5.31	4.42	0.53409	.	0.177476	0.27375	N	0.019655	T	0.29223	0.0727	M	0.71206	2.165	0.80722	D	1	B	0.25312	0.123	B	0.21546	0.035	T	0.05068	-1.0908	10	0.30078	T	0.28	.	13.7227	0.62737	0.0747:0.0:0.9253:0.0	.	154	Q9HB14	KCNKD_HUMAN	T	154	ENSP00000282146:A154T	ENSP00000282146:A154T	A	+	1	0	KCNK13	89720333	1.000000	0.71417	0.975000	0.42487	0.735000	0.41995	6.739000	0.74827	1.235000	0.43724	0.655000	0.94253	GCC	KCNK13	-	NULL	ENSG00000152315		0.567	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1	-	0	30	0	G	NM_022054		90650580	1	tier1	-	no_errors	ENST00000282146	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	A	A	90650580	G	A	90650580	3	1	49	1	0	0	0	0	1	0	0	0	8088	1087	38	1	466	1	KCNK13	14	90650580	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	45005007	90650580	16698960	158	11883											
CYFIP1	23191	genome.wustl.edu	37	chr15	22980149	22980149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagagataagcagcctaatGcacagcctcagtatctgcat	15	8	8	10	0	2	1	1	0	1	1	2	2	2	1	2	0	5	4	2	0	4	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr15:22980149G>T	ENST00000313077.7	+	23	2772	c.2647G>T	c.(2647-2649)Gca>Tca	p.A883S	CYFIP1_ENST00000435939.2_Missense_Mutation_p.A452S|CYFIP1_ENST00000560848.1_Missense_Mutation_p.A883S	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCCTAATGCACAGCCTCA	0.363																																																	0													131	113	119					15																	22980149		2203	4300	6503	SO:0001583	missense	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2647G>T	15.37:g.22980149G>T	ENSP00000324549:p.Ala883Ser			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.A883S	ENST00000313077.7	37	c.2647	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733605	0.69189	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.21932	1.98;1.98	5.07	5.07	0.68467	.	0.096778	0.45361	N	0.000375	T	0.31136	0.0787	L	0.52126	1.63	0.80722	D	1	P;B;B	0.40578	0.722;0.029;0.013	P;B;B	0.47744	0.556;0.216;0.07	T	0.01238	-1.1409	10	0.27082	T	0.32	-7.0588	18.4175	0.90575	0.0:0.0:1.0:0.0	.	911;452;883	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	S	883;911;452	ENSP00000324549:A883S;ENSP00000405956:A452S	ENSP00000324549:A883S	A	+	1	0	CYFIP1	20531590	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	9.245000	0.95431	2.499000	0.84300	0.585000	0.79938	GCA	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.363	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0	39	0	G	NM_014608		22980149	1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	22980149	G	T	22980149	3	4	49	1	0	0	0	0	1	0	0	0	4146	1319	46	3	3114	3	CYFIP1	15	22980149	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		22980149	79551243	159	11884											
AGPHD1	123688	genome.wustl.edu	37	chr15	78825722	78825722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatgatgattgagagcAagagtcctatacaagtagga	15	10	11	5	0	0	4	0	3	0	2	1	6	1	5	1	1	3	3	1	1	6	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr15:78825722A>G	ENST00000569878.1	+	4	832	c.832A>G	c.(832-834)Aag>Gag	p.K278E	HYKK_ENST00000408962.2_Intron|HYKK_ENST00000563233.1_Intron|HYKK_ENST00000388988.4_Missense_Mutation_p.K278E			A2RU49	HYKK_HUMAN	hydroxylysine kinase	278						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										GATTGAGAGCAAGAGTCCTAT	0.428																																																	0													152	137	142					15																	78825722		1984	4167	6151	SO:0001583	missense	0			BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"5-hydroxylysine kinase"	614681	"aminoglycoside phosphotransferase domain containing 1"	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.832A>G	15.37:g.78825722A>G	ENSP00000455459:p.Lys278Glu		B7ZMA5|F8W6X5|Q6ZTN0	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.K278E	ENST00000569878.1	37	c.832	CCDS42063.1	15	.	.	.	.	.	.	.	.	.	.	A	1.242	-0.621103	0.03636	.	.	ENSG00000188266	ENST00000388988	T	0.27557	1.66	5.85	0.741	0.18336	Aminoglycoside phosphotransferase (1);	0.826473	0.11379	N	0.569963	T	0.16214	0.0390	L	0.31526	0.94	0.36797	D	0.885132	B	0.02656	0.0	B	0.09377	0.004	T	0.34104	-0.9842	10	0.02654	T	1	-3.2702	6.3205	0.21215	0.4456:0.3399:0.2145:0.0	.	278	A2RU49	AGPD1_HUMAN	E	278	ENSP00000373640:K278E	ENSP00000373640:K278E	K	+	1	0	AGPHD1	76612777	0.061000	0.20836	0.135000	0.22099	0.318000	0.28184	0.345000	0.19979	0.108000	0.17862	0.533000	0.62120	AAG	HYKK	-	pfam_Aminoglycoside_PTrfase	ENSG00000188266		0.428	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HYKK	HGNC	protein_coding	OTTHUMT00000435834.1	-	0	100	0	A	NM_001013619		78825722	1	tier1	-	no_errors	ENST00000388988	ensembl	human	known	74_37	missense	53.93	41	48	SNP	0.035	G	G	78825722	A	G	78825722	3	3	49	1	0	0	0	0	1	0	0	0	393	131	5	4	846	4	AGPHD1	15	78825722	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	55845573	78825722	23705670	160	11885											
ACSM5	54988	genome.wustl.edu	37	chr16	20448478	20448478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggttcatgggaagaaaCgacgatgtgatcaattcttc	11	14	10	6	2	3	2	2	1	1	1	4	5	3	3	0	2	1	1	0	2	3	5	rs557422368		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr16:20448478C>T	ENST00000331849.4	+	11	1560	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	471					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGGAAGAAACGACGATGTGA	0.473																																																	0													192	181	185					16																	20448478		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"Acyl-CoA synthetase family"	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1413C>T	16.37:g.20448478C>T			Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.N471	ENST00000331849.4	37	c.1413	CCDS10585.1	16																																																																																			ACSM5	-	pfam_AMP-dep_Synth/Lig	ENSG00000183549		0.473	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	-	0	104	0	C	NM_017888		20448478	1	tier1	-	no_errors	ENST00000331849	ensembl	human	known	74_37	silent	24.14	66	21	SNP	0.677	T	T	20448478	C	T	20448478	2	4	49	1	0	0	0	0	0	0	0	1	187	535	19	1		1	ACSM5	16	20448478	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		20448478	69906275	161	11886											
PDZD9	255762	genome.wustl.edu	37	chr16	21995841	21995841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catgccagtctctggagatgGatattggtctccttgcaggg	7	12	13	9	0	2	1	0	0	2	1	4	3	2	2	2	4	2	1	2	4	1	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr16:21995841G>C	ENST00000424898.2	-	4	604	c.542C>G	c.(541-543)tCc>tGc	p.S181C	PDZD9_ENST00000537222.2_Missense_Mutation_p.S121C|PDZD9_ENST00000286143.6_Missense_Mutation_p.S119C			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	181										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TCTGGAGATGGATATTGGTCT	0.368																																																	0													148	143	145					16																	21995841		2198	4300	6498	SO:0001583	missense	0			BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 65"	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.542C>G	16.37:g.21995841G>C	ENSP00000400514:p.Ser181Cys		F5GWW8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S181C	ENST00000424898.2	37	c.542		16	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189459	0.57909	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143;ENST00000521513	T	0.52295	0.67	5.43	4.44	0.53790	.	0.106984	0.42548	D	0.000696	T	0.64305	0.2586	M	0.66939	2.045	0.09310	N	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.57694	-0.7767	10	0.66056	D	0.02	-7.3505	11.2491	0.49015	0.0:0.0:0.817:0.183	.	119	Q8IXQ8-2	.	C	181;121;119;121	ENSP00000400514:S181C	ENSP00000286143:S119C	S	-	2	0	PDZD9	21903342	0.972000	0.33761	0.125000	0.21846	0.987000	0.75469	2.896000	0.48656	1.230000	0.43646	0.563000	0.77884	TCC	PDZD9	-	NULL	ENSG00000155714		0.368	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PDZD9	HGNC	protein_coding	OTTHUMT00000381652.1	-	0	66	0	G	NM_173806		21995841	-1	tier1	-	no_errors	ENST00000424898	ensembl	human	known	74_37	missense	24.64	51	17	SNP	0.135	C	C	21995841	G	C	21995841	3	2	49	1	0	0	0	0	1	0	0	0	11745	1174	41	5	256	5	PDZD9	16	21995841	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	1547363	21995841	68358912	162	11887											
SMPD3	55512	genome.wustl.edu	37	chr16	68398796	68398796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggtccagctgcccacaccgGatggcgctgtcctctgcagg	6	7	13	15	2	1	0	0	0	1	0	3	1	3	1	4	4	3	3	4	4	0	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr16:68398796G>C	ENST00000219334.5	-	5	2016	c.1413C>G	c.(1411-1413)atC>atG	p.I471M	SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.I471M|SMPD3_ENST00000563226.1_Missense_Mutation_p.I471M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	471					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GCCCACACCGGATGGCGCTGT	0.592																																																	0													44	38	40					16																	68398796		2198	4300	6498	SO:0001583	missense	0			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.1413C>G	16.37:g.68398796G>C	ENSP00000219334:p.Ile471Met		B7ZL82|Q2M1S8	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.I471M	ENST00000219334.5	37	c.1413	CCDS10867.1	16	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738629	0.69304	.	.	ENSG00000103056	ENST00000219334	T	0.80214	-1.35	5.93	2.6	0.31112	Endonuclease/exonuclease/phosphatase (2);	0.281510	0.40064	N	0.001182	T	0.82254	0.4997	L	0.58810	1.83	0.27081	N	0.96309	P;P;P	0.39624	0.487;0.681;0.681	P;P;P	0.51777	0.502;0.679;0.581	T	0.75025	-0.3463	10	0.72032	D	0.01	-10.0414	8.2931	0.31969	0.3054:0.0:0.6946:0.0	.	471;471;471	B7ZL82;B7ZL84;Q9NY59	.;.;NSMA2_HUMAN	M	471	ENSP00000219334:I471M	ENSP00000219334:I471M	I	-	3	3	SMPD3	66956297	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.270000	0.18607	0.844000	0.35094	0.561000	0.74099	ATC	SMPD3	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000103056		0.592	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3		0	58	0	G	NM_018667		68398796	-1			no_errors	ENST00000219334	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.997	C	C	68398796	G	C	68398796	3	2	49	1	0	0	0	0	1	0	0	0	14851	1164	41	5	574	5	SMPD3	16	68398796	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	46402955	68398796	21955957	163	11888											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76482821	76482821	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttccatgcacggggagaAttcaatctcatgaatcttga	12	12	8	9	1	3	3	2	2	2	1	5	4	4	3	1	2	1	1	1	2	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr16:76482821A>G	ENST00000476707.1	+	5	1048	c.909A>G	c.(907-909)gaA>gaG	p.E303E	CNTNAP4_ENST00000377504.4_Silent_p.E299E|CNTNAP4_ENST00000307431.8_Silent_p.E299E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.E275E			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	300	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CACGGGGAGAATTCAATCTCA	0.393																																																	0													109	87	95					16																	76482821		2198	4300	6498	SO:0001819	synonymous_variant	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.909A>G	16.37:g.76482821A>G			E9PFZ6|Q86YZ7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E299	ENST00000476707.1	37	c.897		16																																																																																			CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	-	0	71	0	A	NM_033401		76482821	1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	silent	22.58	48	14	SNP	0.006	G	G	76482821	A	G	76482821	2	3	49	1	0	0	0	0	0	0	0	1	3656	98	4	4		4	CNTNAP4	16	76482821	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	8084025	76482821	13871932	164	11889											
ZMYND15	84225	genome.wustl.edu	37	chr17	4646627	4646627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaaccttcaacaaagagGccttcctggcctctcggggc	9	8	11	13	1	2	2	1	1	1	1	4	2	3	2	4	4	2	0	4	4	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:4646627G>T	ENST00000433935.1	+	6	1231	c.1174G>T	c.(1174-1176)Gcc>Tcc	p.A392S	ZMYND15_ENST00000592813.1_Missense_Mutation_p.A392S|ZMYND15_ENST00000573751.2_Missense_Mutation_p.A392S|ZMYND15_ENST00000269289.6_Missense_Mutation_p.A392S	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	392					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CAACAAAGAGGCCTTCCTGGC	0.567																																																	0													111	122	118					17																	4646627		2203	4300	6503	SO:0001583	missense	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1174G>T	17.37:g.4646627G>T	ENSP00000391742:p.Ala392Ser		B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.A392S	ENST00000433935.1	37	c.1174	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263134	0.59431	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.44083	0.93;0.97	5.75	5.75	0.90469	.	0.236212	0.30028	N	0.010591	T	0.47284	0.1437	N	0.19112	0.55	0.30590	N	0.761643	D;D	0.69078	0.997;0.994	D;D	0.70716	0.914;0.97	T	0.47522	-0.9111	10	0.38643	T	0.18	-18.1837	13.0767	0.59091	0.0:0.1612:0.8388:0.0	.	392;392	B4DXY5;Q9H091	.;ZMY15_HUMAN	S	392	ENSP00000391742:A392S;ENSP00000269289:A392S	ENSP00000269289:A392S	A	+	1	0	ZMYND15	4593376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.759000	0.47573	2.700000	0.92200	0.563000	0.77884	GCC	ZMYND15	-	NULL	ENSG00000141497		0.567	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1		0	68	0	G	NM_032265		4646627	1			no_errors	ENST00000433935	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	4646627	G	T	4646627	3	4	49	1	0	0	0	0	1	0	0	0	17756	1203	42	3	1192	3	ZMYND15	17	4646627	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		4646627	76548583	165	11890											
TP53	7157	genome.wustl.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0	0	5008	,	,		18620	0		0.001	False		,,,				2504	0				Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67	58	61					17																	7577120		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273H	ENST00000269305.4	37	c.818	CCDS11118.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	GMAF=0.0005	0	29	0	C	NM_000546		7577120	-1	tier1	rs28934576	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	67.86	8	19	SNP	0.864	T	T	7577120	C	T	7577120	3	4	49	1	0	0	0	0	1	0	0	0	16429	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	2930493	7577120	73618090	166	11891											
PER1	5187	genome.wustl.edu	37	chr17	8049732	8049732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacctgtcctctgcctgtCgtcgtcagaggctgaggagg	5	10	15	11	2	2	2	1	1	1	1	5	4	3	4	3	4	1	1	3	4	0	0	rs377111904		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:8049732C>T	ENST00000317276.4	-	16	2233	c.1996G>A	c.(1996-1998)Gac>Aac	p.D666N	PER1_ENST00000581082.1_Missense_Mutation_p.D646N|PER1_ENST00000354903.5_Missense_Mutation_p.D650N|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	666	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTGCCTGTCGTCGTCAGAG	0.602			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								C	ASN/ASP	0,4406		0,0,2203	89	97	95		1996	5.3	1	17		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	PER1	NM_002616.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	666/1291	8049732	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1996G>A	17.37:g.8049732C>T	ENSP00000314420:p.Asp666Asn		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.D666N	ENST00000317276.4	37	c.1996	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091142	0.76756	0.0	1.16E-4	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.46819	2.3;0.86	5.28	5.28	0.74379	.	0.047288	0.85682	D	0.000000	T	0.69593	0.3128	M	0.80183	2.485	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.73708	0.943;0.981	T	0.69105	-0.5233	10	0.37606	T	0.19	-25.1283	16.7677	0.85528	0.0:1.0:0.0:0.0	.	650;666	B4DI49;O15534	.;PER1_HUMAN	N	666;650	ENSP00000314420:D666N;ENSP00000346979:D650N	ENSP00000314420:D666N	D	-	1	0	PER1	7990457	0.970000	0.33590	0.998000	0.56505	0.580000	0.36256	4.472000	0.60189	2.641000	0.89580	0.563000	0.77884	GAC	PER1	-	NULL	ENSG00000179094		0.602	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	-	0	44	0	C			8049732	-1	tier1	-	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	T	T	8049732	C	T	8049732	3	4	49	1	0	0	0	0	1	0	0	0	11768	884	31	1	1908	1	PER1	17	8049732	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	472612	8049732	73145478	167	11892											
MYH4	4622	genome.wustl.edu	37	chr17	10362574	10362574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtcatatgaaccttctcGatgagctcgatgcaggcagc	12	9	10	10	2	2	2	1	2	1	0	4	4	2	2	1	1	4	3	1	1	3	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:10362574G>A	ENST00000255381.2	-	15	1691	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	527	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GAACCTTCTCGATGAGCTCGA	0.473																																																	0													168	153	158					17																	10362574		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1581C>T	17.37:g.10362574G>A				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I527	ENST00000255381.2	37	c.1581	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000264424		0.473	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0	113	0	G	NM_017533		10362574	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	silent	14.67	64	11	SNP	0.470	A	A	10362574	G	A	10362574	2	1	49	1	0	0	0	0	0	0	0	1	10075	1048	37	1		1	MYH4	17	10362574	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	2312842	10362574	70832636	168	11893											
DNAH9	1770	genome.wustl.edu	37	chr17	11593365	11593365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccctagcgcacctgcTgcagctccagctgcaccact	8	6	7	20	1	0	0	0	0	0	0	1	0	1	0	5	0	6	6	5	0	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:11593365T>C	ENST00000262442.4	+	20	4294	c.4226T>C	c.(4225-4227)cTg>cCg	p.L1409P	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1409P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1409	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCGCACCTGCTGCAGCTCCAG	0.577																																																	0													44	38	40					17																	11593365		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4226T>C	17.37:g.11593365T>C	ENSP00000262442:p.Leu1409Pro		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1409P	ENST00000262442.4	37	c.4226	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855212	0.51376	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.67865	-0.29;-0.29	6.08	5.01	0.66863	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000011	D	0.88540	0.6464	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91418	0.5156	10	0.87932	D	0	.	11.9538	0.52970	0.0:0.0671:0.0:0.9329	.	1409	Q9NYC9	DYH9_HUMAN	P	1409	ENSP00000262442:L1409P;ENSP00000414874:L1409P	ENSP00000262442:L1409P	L	+	2	0	DNAH9	11534090	1.000000	0.71417	0.989000	0.46669	0.300000	0.27592	6.302000	0.72788	1.134000	0.42165	0.533000	0.62120	CTG	DNAH9	-	pfam_Dynein_heavy_dom-2	ENSG00000007174		0.577	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	44	0	T	NM_001372		11593365	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	C	C	11593365	T	C	11593365	3	2	49	1	0	0	0	0	1	0	0	0	4622	1580	55	4	4304	4	DNAH9	17	11593365	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	1230791	11593365	69601845	169	11894											
KRTAP1-3	81850	genome.wustl.edu	37	chr17	39191010	39191010	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggctggcagcagctggAgccgcatgtcccactggtgg	5	8	16	12	1	0	0	0	0	0	0	1	1	1	1	2	5	3	6	2	5	0	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:39191010A>T	ENST00000344363.5	-	1	97	c.64T>A	c.(64-66)Tcc>Acc	p.S22T		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	22						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCAGCTGGAGCCGCATGTC	0.587																																																	0													41	49	47					17																	39191010		1974	4168	6142	SO:0001583	missense	0			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.64T>A	17.37:g.39191010A>T	ENSP00000344420:p.Ser22Thr		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.S22T	ENST00000344363.5	37	c.64	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	A	9.615	1.132314	0.21041	.	.	ENSG00000221880	ENST00000344363	T	0.33216	1.42	4.31	0.846	0.18955	.	.	.	.	.	T	0.15652	0.0377	.	.	.	0.26468	N	0.975321	B	0.09022	0.002	B	0.15484	0.013	T	0.30060	-0.9991	8	0.21014	T	0.42	.	3.8262	0.08855	0.6175:0.1859:0.1966:0.0	.	22	Q8IUG1	KRA13_HUMAN	T	22	ENSP00000344420:S22T	ENSP00000344420:S22T	S	-	1	0	KRTAP1-3	36444536	.	.	0.993000	0.49108	0.724000	0.41520	.	.	0.093000	0.17368	-0.376000	0.06991	TCC	KRTAP1-3	-	pfam_Keratin-assoc	ENSG00000221880		0.587	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1		0	100	0	A			39191010	-1			no_errors	ENST00000344363	ensembl	human	known	74_37	missense	8.51	86	8	SNP	0.997	T	T	39191010	A	T	39191010	3	4	49	1	0	0	0	0	1	0	0	0	8530	304	11	5	443	5	KRTAP1-3	17	39191010	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	27597645	39191010	42004200	170	11895											
ATXN7L3	56970	genome.wustl.edu	37	chr17	42274607	42274607	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcaccggcggttggcGattcggctgctgttccgacc	3	11	12	15	5	1	0	1	0	0	0	4	2	3	0	4	4	1	4	4	4	0	4	rs201010457		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:42274607G>T	ENST00000454077.2	-	3	344	c.345C>A	c.(343-345)atC>atA	p.I115I	ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Silent_p.I115I	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGCGGTTGGCGATTCGGCTGC	0.612																																																	0													50	60	57					17																	42274607		2011	4171	6182	SO:0001819	synonymous_variant	0			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.345C>A	17.37:g.42274607G>T				Silent	SNP	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.I115	ENST00000454077.2	37	c.345	CCDS45697.1	17																																																																																			ATXN7L3	-	NULL	ENSG00000087152		0.612	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457724.1	-	0	57	0	G			42274607	-1	tier1	-	no_errors	ENST00000454077	ensembl	human	known	74_37	silent	68.89	14	31	SNP	0.995	T	T	42274607	G	T	42274607	2	4	49	1	0	0	0	0	0	0	0	1	1219	1048	37	2		2	ATXN7L3	17	42274607	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	3083597	42274607	38920603	171	11896											
TLK2	11011	genome.wustl.edu	37	chr17	60599574	60599574	+	Frame_Shift_Del	DEL	A	A	-																															gtatttgacagactcccgagAaaaagcagaatgaccagcga																										TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:60599574delA	ENST00000326270.9	+	4	431	c.163delA	c.(163-165)aaafs	p.K56fs	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Frame_Shift_Del_p.K56fs|TLK2_ENST00000542523.1_Frame_Shift_Del_p.K56fs|TLK2_ENST00000346027.5_Frame_Shift_Del_p.K56fs	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	56					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GACTCCCGAGAAAAAGCAGAA	0.323																																																	0													56	53	54					17																	60599574		2203	4300	6503	SO:0001589	frameshift_variant	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.163delA	17.37:g.60599574delA	ENSP00000316512:p.Lys56fs		D3DU07|Q9UKI7|Q9Y4F7	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K56fs	ENST00000326270.9	37	c.163		17																																																																																			TLK2	-	NULL	ENSG00000146872		0.323	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1		0	21	0	A	NM_006852		60599574	1	tier1		no_errors	ENST00000326270	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	60599574	A	-	60599574	7	5	49	1	0	1	0	1	0	0	0	0	15991	247	9	0	173	0	TLK2	17	60599574	Frame_Shift_Del	DEL	A	TCGA-L5-A43E-01A-11D-A247-09	18324967	60599574	20595636	172	11897											
AATK	9625	genome.wustl.edu	37	chr17	79098773	79098773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtcaccaatcttcaccGtcaggtcagccgtgagcagg	10	8	10	13	2	5	1	4	1	1	0	5	1	5	1	3	2	2	1	3	2	2	2	rs202102141		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:79098773G>A	ENST00000326724.4	-	8	821	c.797C>T	c.(796-798)aCg>aTg	p.T266M	AATK_ENST00000572339.1_5'UTR|MIR338_ENST00000390137.2_RNA|MIR657_ENST00000385003.1_RNA|AATK_ENST00000417379.1_Missense_Mutation_p.T163M	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AATCTTCACCGTCAGGTCAGC	0.692																																																	0								G	MET/THR,MET/THR	2,4246		0,2,2122	26	27	27		797,488	3.8	1	17		27	0,8424		0,0,4212	yes	missense,missense	AATK	NM_001080395.2,NM_004920.2	81,81	0,2,6334	AA,AG,GG		0.0,0.0471,0.0158	probably-damaging,probably-damaging	266/1375,163/1272	79098773	2,12670	2124	4212	6336	SO:0001583	missense	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.797C>T	17.37:g.79098773G>A	ENSP00000324196:p.Thr266Met		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T266M	ENST00000326724.4	37	c.797	CCDS45807.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.92|18.92	3.725620|3.725620	0.68959|0.68959	4.71E-4|4.71E-4	0.0|0.0	ENSG00000181409|ENSG00000181409	ENST00000417379|ENST00000326724;ENST00000374792	.|D;D	.|0.89617	.|-2.54;-2.54	3.75|3.75	3.75|3.75	0.43078|0.43078	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.152498	.|0.44097	.|D	.|0.000488	D|D	0.93575|0.93575	0.7949|0.7949	M|M	0.76002|0.76002	2.32|2.32	0.33159|0.33159	D|D	0.546662|0.546662	.|D	.|0.89917	.|1.0	.|D	.|0.76071	.|0.987	D|D	0.95753|0.95753	0.8793|0.8793	5|10	.|0.87932	.|D	.|0	.|.	14.8544|14.8544	0.70326|0.70326	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|266	.|Q6ZMQ8	.|LMTK1_HUMAN	W|M	219|266	.|ENSP00000324196:T266M;ENSP00000363924:T266M	.|ENSP00000324196:T266M	R|T	-|-	1|2	2|0	AATK|AATK	76713368|76713368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.668000|0.668000	0.39293|0.39293	4.545000|4.545000	0.60698|0.60698	2.089000|2.089000	0.63090|0.63090	0.655000|0.655000	0.94253|0.94253	CGG|ACG	AATK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000181409		0.692	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	-	0	66	0	G	NM_004920		79098773	-1	tier1	rs202102141	no_errors	ENST00000326724	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	A	A	79098773	G	A	79098773	3	1	49	1	0	0	0	0	1	0	0	0	26	1145	40	1	3355	1	AATK	17	79098773	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	18499199	79098773	2096437	173	11898											
B3GNTL1	146712	genome.wustl.edu	37	chr17	80923600	80923600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtgggcatgatcaccGtggggccatttgaggtgaaa	10	8	15	8	1	1	3	1	3	0	0	1	3	1	3	3	5	0	1	3	5	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr17:80923600G>T	ENST00000320865.3	-	7	540	c.527C>A	c.(526-528)aCg>aAg	p.T176K	B3GNTL1_ENST00000576599.1_Missense_Mutation_p.T65K|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	176							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CATGATCACCGTGGGGCCATT	0.527																																																	0													66	58	60					17																	80923600		2203	4300	6503	SO:0001583	missense	0			AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"Glycosyltransferase family 2 domain containing"	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.527C>A	17.37:g.80923600G>T	ENSP00000319979:p.Thr176Lys		Q6GV30|Q8WUT3	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.T176K	ENST00000320865.3	37	c.527	CCDS32778.1	17	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659398	0.67586	.	.	ENSG00000175711	ENST00000320865	T	0.61627	0.09	4.83	4.83	0.62350	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77694	-0.2492	9	.	.	.	-15.4566	15.7877	0.78319	0.0:0.0:1.0:0.0	.	176	Q67FW5	B3GNL_HUMAN	K	176	ENSP00000319979:T176K	.	T	-	2	0	B3GNTL1	78516889	1.000000	0.71417	0.339000	0.25562	0.300000	0.27592	4.680000	0.61656	2.428000	0.82296	0.462000	0.41574	ACG	B3GNTL1	-	pfam_Glyco_trans_2	ENSG00000175711		0.527	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNTL1	HGNC	protein_coding	OTTHUMT00000438949.1		0	55	0	G	NM_001009905		80923600	-1			no_errors	ENST00000320865	ensembl	human	known	74_37	missense	7.41	49	4	SNP	0.993	T	T	80923600	G	T	80923600	3	4	49	1	0	0	0	0	1	0	0	0	1266	1145	40	2	582	2	B3GNTL1	17	80923600	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	1824827	80923600	271610	174	11899											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14851759	14851759	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttaaagttctgacggcAgagaacacgatgctgacttc	12	9	10	10	2	1	3	0	2	1	1	2	5	1	3	0	1	3	4	0	1	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr18:14851759A>G	ENST00000358984.4	+	36	3639	c.3459A>G	c.(3457-3459)gcA>gcG	p.A1153A		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1153										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TTCTGACGGCAGAGAACACGA	0.383																																																	0													20	20	20					18																	14851759		510	1393	1903	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3459A>G	18.37:g.14851759A>G			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A1153	ENST00000358984.4	37	c.3459	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.383	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	104	0	A	NM_001145029		14851759	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	33.85	43	22	SNP	0.925	G	G	14851759	A	G	14851759	2	3	49	1	0	0	0	0	0	0	0	1	659	175	7	4		4	ANKRD30B	18	14851759	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09		14851759	63225489	175	11900											
ASXL3	80816	genome.wustl.edu	37	chr18	31318661	31318661	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtagaaattccacctaaAgatataatggcagaattgga	17	10	9	5	0	0	3	0	0	0	3	1	4	1	4	2	3	0	2	2	3	7	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr18:31318661A>T	ENST00000269197.5	+	11	1293	c.1293A>T	c.(1291-1293)aaA>aaT	p.K431N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TTCCACCTAAAGATATAATGG	0.433																																																	0													73	74	73					18																	31318661		1866	4100	5966	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1293A>T	18.37:g.31318661A>T	ENSP00000269197:p.Lys431Asn		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.K431N	ENST00000269197.5	37	c.1293	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435077	0.25813	.	.	ENSG00000141431	ENST00000269197	T	0.21734	1.99	5.37	-0.348	0.12613	.	0.938275	0.08986	N	0.865146	T	0.22742	0.0549	M	0.63843	1.955	0.31645	N	0.647582	P	0.41366	0.747	B	0.40375	0.327	T	0.37776	-0.9691	10	0.45353	T	0.12	.	8.7137	0.34399	0.3971:0.0:0.6029:0.0	.	431	Q9C0F0	ASXL3_HUMAN	N	431	ENSP00000269197:K431N	ENSP00000269197:K431N	K	+	3	2	ASXL3	29572659	0.994000	0.37717	0.663000	0.29738	0.492000	0.33523	0.249000	0.18216	0.075000	0.16796	0.482000	0.46254	AAA	ASXL3	-	NULL	ENSG00000141431		0.433	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	46	0	A			31318661	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.994	T	T	31318661	A	T	31318661	3	4	49	1	0	0	0	0	1	0	0	0	1069	69	3	5	1335	5	ASXL3	18	31318661	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	16466902	31318661	46758587	176	11901											
DCC	1630	genome.wustl.edu	37	chr18	50451636	50451636	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttattgggtggaagcaActtgcttatctccaatgtga	9	16	9	7	0	2	1	0	1	2	0	3	2	2	2	1	2	3	2	1	2	5	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr18:50451636A>C	ENST00000442544.2	+	5	1497	c.881A>C	c.(880-882)aAc>aCc	p.N294T	DCC_ENST00000412726.1_Missense_Mutation_p.N142T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	294	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGTGGAAGCAACTTGCTTATC	0.373																																																	0													129	128	128					18																	50451636		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.881A>C	18.37:g.50451636A>C	ENSP00000389140:p.Asn294Thr			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N294T	ENST00000442544.2	37	c.881	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236939	0.39498	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.62232	0.04;0.04	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	N	0.16098	0.37	0.80722	D	1	B;B	0.31153	0.084;0.31	B;B	0.41619	0.069;0.361	T	0.47861	-0.9084	10	0.11794	T	0.64	.	15.0617	0.71961	1.0:0.0:0.0:0.0	.	142;294	E7EQM8;P43146	.;DCC_HUMAN	T	294;227;142	ENSP00000389140:N294T;ENSP00000397322:N142T	ENSP00000304146:N227T	N	+	2	0	DCC	48705634	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.921000	0.75805	2.200000	0.70718	0.377000	0.23210	AAC	DCC	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000187323		0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	42	0	A	NM_005215		50451636	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	C	C	50451636	A	C	50451636	3	2	49	1	0	0	0	0	1	0	0	0	4291	43	2	4	899	4	DCC	18	50451636	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	19132975	50451636	27625612	177	11902											
NETO1	81832	genome.wustl.edu	37	chr18	70417823	70417823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtcccactggtgttggTcagctggtccagcaggctgg	6	9	15	11	0	1	0	1	0	0	0	3	1	3	0	2	5	2	4	2	5	0	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr18:70417823T>C	ENST00000327305.6	-	9	1672	c.1015A>G	c.(1015-1017)Acc>Gcc	p.T339A	RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Missense_Mutation_p.T338A|NETO1_ENST00000583169.1_Missense_Mutation_p.T339A	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	339					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTGGTGTTGGTCAGCTGGTCC	0.443																																																	0													64	47	53					18																	70417823		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1015A>G	18.37:g.70417823T>C	ENSP00000313088:p.Thr339Ala		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.T339A	ENST00000327305.6	37	c.1015	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	T	18.73	3.685408	0.68157	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.21734	1.99;1.99	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000008	T	0.22044	0.0531	L	0.50333	1.59	0.80722	D	1	B;P	0.38420	0.341;0.63	B;B	0.35114	0.167;0.196	T	0.02868	-1.1100	10	0.56958	D	0.05	-26.8682	15.305	0.73985	0.0:0.0:0.0:1.0	.	338;339	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	A	339;338	ENSP00000313088:T339A;ENSP00000299430:T338A	ENSP00000299430:T338A	T	-	1	0	NETO1	68568803	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.232000	0.72313	2.069000	0.61940	0.374000	0.22700	ACC	NETO1	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000166342		0.443	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0	44	0	T	NM_138999		70417823	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	C	C	70417823	T	C	70417823	3	2	49	1	0	0	0	0	1	0	0	0	10378	1667	58	4	594	4	NETO1	18	70417823	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	19966187	70417823	7659425	178	11903											
HCN2	610	genome.wustl.edu	37	chr19	613434	613434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacggcgtggtcagcGtgctcactaagggcaacaag	10	6	13	12	3	2	0	2	0	0	0	3	0	3	0	1	3	4	3	1	3	3	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:613434G>A	ENST00000251287.2	+	6	1824	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	591					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGTCAGCGTGCTCACTAA	0.617																																					Melanoma(145;1175 2427 8056 36306)												0													91	77	82					19																	613434		2202	4299	6501	SO:0001583	missense	0			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1771G>A	19.37:g.613434G>A	ENSP00000251287:p.Val591Met		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.V591M	ENST00000251287.2	37	c.1771	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	16.79	3.221672	0.58560	.	.	ENSG00000099822	ENST00000251287	D	0.94687	-3.49	3.65	3.65	0.41850	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.	.	.	.	D	0.96266	0.8782	M	0.77486	2.375	0.52099	D	0.999945	D	0.89917	1.0	D	0.70716	0.97	D	0.95912	0.8924	9	0.87932	D	0	.	8.7811	0.34792	0.124:0.0:0.876:0.0	.	591	Q9UL51	HCN2_HUMAN	M	591	ENSP00000251287:V591M	ENSP00000251287:V591M	V	+	1	0	HCN2	564434	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.603000	0.61105	1.764000	0.52075	0.493000	0.49557	GTG	HCN2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000099822		0.617	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	-	0	23	0	G	NM_001194		613434	1	tier1	-	no_errors	ENST00000251287	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	A	A	613434	G	A	613434	3	1	49	1	0	0	0	0	1	0	0	0	7024	1145	40	1	1793	1	HCN2	19	613434	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		613434	58515549	179	11904											
C19orf21	126353	genome.wustl.edu	37	chr19	757291	757291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcactccgcccagaggaCggggaggacaaggagatgaa	12	3	17	9	2	0	3	0	1	0	2	1	7	1	6	2	6	0	1	2	6	2	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:757291C>T	ENST00000215582.6	+	2	448	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	115					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GCCCAGAGGACGGGGAGGACA	0.662																																																	0													56	48	51					19																	757291		2202	4300	6502	SO:0001819	synonymous_variant	0			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"mitotic interactor and substrate of Plk1"	615289	"chromosome 19 open reading frame 21"	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.345C>T	19.37:g.757291C>T				Silent	SNP	NULL	p.D115	ENST00000215582.6	37	c.345	CCDS12042.1	19																																																																																			MISP	-	NULL	ENSG00000099812		0.662	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MISP	HGNC	protein_coding	OTTHUMT00000457600.2	-	0	46	0	C	NM_173481		757291	1	tier1	-	no_errors	ENST00000215582	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.000	T	T	757291	C	T	757291	2	4	49	1	0	0	0	0	0	0	0	1	1920	535	19	1		1	C19orf21	19	757291	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	143857	757291	58371692	180	11905											
AZU1	566	genome.wustl.edu	37	chr19	828364	828364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgcttcgtgatgaccGcggccagctgcttccaaagc	7	8	11	15	4	0	2	0	2	0	0	2	2	1	2	4	1	4	3	4	1	1	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:828364G>A	ENST00000233997.2	+	2	214	c.193G>A	c.(193-195)Gcg>Acg	p.A65T		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	65	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.|Possesses antibiotic activity.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGATGACCGCGGCCAGCTG	0.657																																																	0													35	41	39					19																	828364		2200	4292	6492	SO:0001583	missense	0			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.193G>A	19.37:g.828364G>A	ENSP00000233997:p.Ala65Thr		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A65T	ENST00000233997.2	37	c.193	CCDS12044.1	19	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511257	0.44660	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.95238	-3.65	2.4	1.33	0.21861	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97321	0.9124	H	0.94620	3.56	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90289	0.4321	9	0.87932	D	0	.	5.0783	0.14644	0.1821:0.0:0.8179:0.0	.	65	P20160	CAP7_HUMAN	T	79;65	ENSP00000233997:A65T	ENSP00000233997:A65T	A	+	1	0	AZU1	779364	0.085000	0.21516	0.005000	0.12908	0.027000	0.11550	2.053000	0.41326	0.340000	0.23745	0.511000	0.50034	GCG	AZU1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000172232		0.657	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZU1	HGNC	protein_coding	OTTHUMT00000457472.2	-	0	29	0	G	NM_001700		828364	1	tier1	-	no_errors	ENST00000233997	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.006	A	A	828364	G	A	828364	3	1	49	1	0	0	0	0	1	0	0	0	1244	1087	38	1	199	1	AZU1	19	828364	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	71073	828364	58300619	181	11906											
MATK	4145	genome.wustl.edu	37	chr19	3784173	3784173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcccgctcccgcagcGccccagctgccagcagcccc	4	3	11	23	3	0	0	0	0	0	0	2	0	2	0	8	1	5	4	8	1	0	0	rs373715019		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:3784173G>A	ENST00000310132.6	-	5	709	c.311C>T	c.(310-312)gCg>gTg	p.A104V	MATK_ENST00000395040.2_Missense_Mutation_p.A63V|MATK_ENST00000585778.1_Missense_Mutation_p.A104V|MATK_ENST00000395045.2_Missense_Mutation_p.A105V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	104	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCAGCGCCCCAGCTGC	0.682																																																	0									VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	42	47	45		314,188,311	3.2	0	19		45	0,8600		0,0,4300	no	missense,missense,missense	MATK	NM_002378.3,NM_139354.2,NM_139355.2	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	105/509,63/467,104/508	3784173	1,13005	2203	4300	6503	SO:0001583	missense	0			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.311C>T	19.37:g.3784173G>A	ENSP00000308734:p.Ala104Val		B3KNZ9|Q9NST8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A105V	ENST00000310132.6	37	c.314	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	g	14.60	2.582527	0.46006	2.27E-4	0.0	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.16457	2.34;2.34;2.34	4.25	3.16	0.36331	Src homology-3 domain (3);	0.534815	0.19061	N	0.123770	T	0.16342	0.0393	L	0.40543	1.245	0.09310	N	1	D;D;D	0.60160	0.987;0.987;0.987	B;B;B	0.43194	0.411;0.411;0.411	T	0.06607	-1.0817	10	0.87932	D	0	-21.872	12.3729	0.55263	0.0:0.0:0.8299:0.17	.	104;105;104	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	V	105;104;63	ENSP00000378485:A105V;ENSP00000308734:A104V;ENSP00000378481:A63V	ENSP00000308734:A104V	A	-	2	0	MATK	3735173	0.399000	0.25287	0.026000	0.17262	0.752000	0.42762	3.599000	0.54045	0.839000	0.34971	0.306000	0.20318	GCG	MATK	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000007264		0.682	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	-	0	64	0	G	NM_139355		3784173	-1	tier1	-	no_errors	ENST00000395045	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.011	A	A	3784173	G	A	3784173	3	1	49	1	0	0	0	0	1	0	0	0	9370	1087	38	1	1252	1	MATK	19	3784173	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	2955809	3784173	55344810	182	11907											
ZNRF4	148066	genome.wustl.edu	37	chr19	5455995	5455995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgctgatccgccgctacGactgcaccttcgacctcaag	7	9	9	16	5	1	1	1	1	0	0	4	3	2	1	4	0	3	3	4	0	2	2	rs377472519		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:5455995G>A	ENST00000222033.4	+	1	570	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	165	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCGCCGCTACGACTGCACCTT	0.662																																																	0								A	ASN/ASP	0,4300		0,0,2150	36	38	37		493	3.6	0	19		37	1,8491		0,1,4245	no	missense	ZNRF4	NM_181710.3	23	0,1,6395	AA,AG,GG		0.0118,0.0,0.0078	probably-damaging	165/430	5455995	1,12791	2150	4246	6396	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.493G>A	19.37:g.5455995G>A	ENSP00000222033:p.Asp165Asn		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D165N	ENST00000222033.4	37	c.493	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	g	8.358	0.832346	0.16820	0.0	1.18E-4	ENSG00000105428	ENST00000222033	T	0.06218	3.33	4.65	3.61	0.41365	Protease-associated domain, PA (1);	0.186628	0.43579	N	0.000555	T	0.13415	0.0325	L	0.47716	1.5	0.21020	N	0.999808	D	0.67145	0.996	P	0.58210	0.835	T	0.05683	-1.0870	10	0.38643	T	0.18	-14.5481	11.6338	0.51192	0.0953:0.0:0.9047:0.0	.	165	Q8WWF5	ZNRF4_HUMAN	N	165	ENSP00000222033:D165N	ENSP00000222033:D165N	D	+	1	0	ZNRF4	5406995	0.912000	0.30974	0.046000	0.18839	0.153000	0.21895	1.471000	0.35365	0.421000	0.25980	-1.280000	0.01385	GAC	ZNRF4	-	pfam_Protease-assoc_domain	ENSG00000105428		0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1		0	60	0	G	NM_181710		5455995	1			no_errors	ENST00000222033	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.536	A	A	5455995	G	A	5455995	3	1	49	1	0	0	0	0	1	0	0	0	18262	1058	37	1	495	1	ZNRF4	19	5455995	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	1671822	5455995	53672988	183	11908											
ZNF763	284390	genome.wustl.edu	37	chr19	12089188	12089188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atataagtgtcaacaacctaAgaaagccttcagatatcacc	17	9	5	10	0	3	2	3	0	0	2	3	2	3	2	3	0	3	0	3	0	7	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:12089188A>C	ENST00000358987.3	+	4	576	c.449A>C	c.(448-450)aAg>aCg	p.K150T	ZNF763_ENST00000545530.1_Missense_Mutation_p.K28T|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000343949.5_Missense_Mutation_p.K153T|ZNF763_ENST00000590798.1_Missense_Mutation_p.K170T|ZNF763_ENST00000538752.1_Missense_Mutation_p.K170T			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						CAACAACCTAAGAAAGCCTTC	0.408																																																	0													140	144	143					19																	12089188		2201	4300	6501	SO:0001583	missense	0			AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"Zinc fingers, C2H2-type", "-"	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.449A>C	19.37:g.12089188A>C	ENSP00000402017:p.Lys150Thr		B3KRU3|B4DRE7	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K170T	ENST00000358987.3	37	c.509		19	.	.	.	.	.	.	.	.	.	.	a	11.56	1.674526	0.29693	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000545530;ENST00000358987	T;T;T;T	0.06608	3.4;3.38;3.28;3.38	1.68	-0.389	0.12455	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12050	0.0293	L	0.36672	1.1	0.09310	N	1	D;D;D	0.71674	0.989;0.998;0.968	D;D;P	0.72982	0.979;0.914;0.859	T	0.20638	-1.0269	9	0.87932	D	0	.	4.7237	0.12931	0.5626:0.0:0.4374:0.0	.	170;150;153	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	T	170;153;28;150	ENSP00000438117:K170T;ENSP00000369774:K153T;ENSP00000446166:K28T;ENSP00000402017:K150T	ENSP00000369774:K153T	K	+	2	0	ZNF763	11950188	.	.	0.000000	0.03702	0.044000	0.14063	.	.	-0.288000	0.09051	0.164000	0.16699	AAG	ZNF763	-	pfscan_Znf_C2H2	ENSG00000197054		0.408	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF763	HGNC	protein_coding	OTTHUMT00000344158.1	-	0	44	0	A	NM_001012753		12089188	1	tier1	-	no_errors	ENST00000538752	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.000	C	C	12089188	A	C	12089188	3	2	49	1	0	0	0	0	1	0	0	0	18185	72	3	4	472	4	ZNF763	19	12089188	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	6633193	12089188	47039795	184	11909											
MAN2B1	4125	genome.wustl.edu	37	chr19	12775735	12775735	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcatctggtccacgatGgcaccgtagtgggtggctgc	6	10	15	10	2	2	0	1	0	1	0	3	1	3	0	2	4	1	3	2	4	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:12775735G>A	ENST00000456935.2	-	4	541	c.501C>T	c.(499-501)gcC>gcT	p.A167A	CTD-2192J16.24_ENST00000597961.1_Silent_p.A164A|WDR83_ENST00000418543.3_5'Flank|MAN2B1_ENST00000221363.4_Silent_p.A167A	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	167					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTCCACGATGGCACCGTAGT	0.617																																																	0													103	72	82					19																	12775735		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.501C>T	19.37:g.12775735G>A			G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.A167	ENST00000456935.2	37	c.501	CCDS32919.1	19																																																																																			MAN2B1	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000104774		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	-	0	25	0	G			12775735	-1	tier1	-	no_errors	ENST00000456935	ensembl	human	known	74_37	silent	38.10	13	8	SNP	1.000	A	A	12775735	G	A	12775735	2	1	49	1	0	0	0	0	0	0	0	1	9254	1335	47	3		3	MAN2B1	19	12775735	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	686547	12775735	46353248	185	11910											
CACNA1A	773	genome.wustl.edu	37	chr19	13319692	13319694	+	In_Frame_Del	DEL	GAT	GAT	-																															gtccttgtcggggggcggggGatggtggtggtggtggtggt																								rs16051	byFrequency	TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	GAT	GAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:13319692_13319694delGAT	ENST00000360228.5	-	46	6655_6657	c.6656_6658delATC	c.(6655-6660)catccc>ccc	p.H2219del	CACNA1A_ENST00000573710.2_In_Frame_Del_p.H2220del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGGCGGGGGAtggtggtggtg	0.734																																																	0																																										SO:0001651	inframe_deletion	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6656_6658delATC	19.37:g.13319692_13319694delGAT	ENSP00000353362:p.His2219del		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.H2219in_frame_del	ENST00000360228.5	37	c.6658_6656	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.734	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	19	0	GAT	NM_000068		13319694	-1	tier1		no_errors	ENST00000360228	ensembl	human	known	74_37	in_frame_del	25.00	9	3	DEL	1.000:1.000:1.000	-	-	13319694	GAT	-	13319692	7	5	49	1	0	1	0	1	0	0	0	0	2545	1174	41	0	870	0	CACNA1A	19	13319692	In_Frame_Del	DEL	GAT	TCGA-L5-A43E-01A-11D-A247-09	543957	13319692	45809291	186	11911											
ABHD8	79575	genome.wustl.edu	37	chr19	17412301	17412301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcttcacccgcagcacgCggccgggcttgacctctaca	7	7	10	17	4	2	1	1	1	1	0	2	1	2	1	3	2	3	4	3	2	1	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:17412301C>T	ENST00000247706.3	-	2	364	c.125G>A	c.(124-126)cGc>cAc	p.R42H	MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	42							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CCGCAGCACGCGGCCGGGCTT	0.677																																					Ovarian(156;1368 2543 15275 41187)												0													16	20	18					19																	17412301		2191	4289	6480	SO:0001583	missense	0			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.125G>A	19.37:g.17412301C>T	ENSP00000247706:p.Arg42His		Q9HAE9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.R42H	ENST00000247706.3	37	c.125	CCDS12355.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029282	0.75504	.	.	ENSG00000127220	ENST00000247706	T	0.56611	0.45	5.24	4.21	0.49690	.	0.057779	0.64402	N	0.000004	T	0.60130	0.2245	L	0.34521	1.04	0.49051	D	0.999746	D	0.89917	1.0	D	0.80764	0.994	T	0.63001	-0.6734	10	0.87932	D	0	-26.7344	11.3718	0.49704	0.0:0.9108:0.0:0.0892	.	42	Q96I13	ABHD8_HUMAN	H	42	ENSP00000247706:R42H	ENSP00000247706:R42H	R	-	2	0	ABHD8	17273301	1.000000	0.71417	0.724000	0.30704	0.593000	0.36681	7.296000	0.78790	1.215000	0.43411	0.491000	0.48974	CGC	ABHD8	-	NULL	ENSG00000127220		0.677	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	-	0	35	0	C	NM_024527		17412301	-1	tier1	-	no_errors	ENST00000247706	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.954	T	T	17412301	C	T	17412301	3	4	49	1	0	0	0	0	1	0	0	0	87	768	27	1	1210	1	ABHD8	19	17412301	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	4092609	17412301	41716682	187	11912											
TM6SF2	53345	genome.wustl.edu	37	chr19	19375653	19375653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagggtgtgcgcaggtgCatggaagcccccatgtgcga	8	7	17	9	2	0	1	0	1	0	0	0	3	0	2	2	3	4	2	2	3	2	0			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:19375653C>A	ENST00000389363.4	-	10	1026	c.954G>T	c.(952-954)atG>atT	p.M318I	AC138430.4_ENST00000586064.2_RNA|HAPLN4_ENST00000291481.7_5'Flank	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	318						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TGCGCAGGTGCATGGAAGCCC	0.612																																																	0													68	76	73					19																	19375653		2147	4240	6387	SO:0001583	missense	0			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.954G>T	19.37:g.19375653C>A	ENSP00000374014:p.Met318Ile		Q0IJ64	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.M318I	ENST00000389363.4	37	c.954	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519069	0.44866	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.21191	2.02	4.95	0.918	0.19386	.	0.162448	0.26677	U	0.023068	T	0.15219	0.0367	L	0.51422	1.61	0.32425	N	0.548812	B	0.16802	0.019	B	0.15870	0.014	T	0.08597	-1.0714	10	0.66056	D	0.02	-3.4479	2.5175	0.04672	0.1436:0.5324:0.1405:0.1834	.	318	Q9BZW4	TM6S2_HUMAN	I	318	ENSP00000374014:M318I	ENSP00000269990:M318I	M	-	3	0	TM6SF2	19236653	0.805000	0.28982	0.982000	0.44146	0.976000	0.68499	-0.023000	0.12456	0.473000	0.27368	0.561000	0.74099	ATG	TM6SF2	-	pfam_Transmembrane_6/97	ENSG00000213996		0.612	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	HGNC	protein_coding	OTTHUMT00000460122.2	-	0	20	0	C	NM_203510		19375653	-1	tier1	-	no_errors	ENST00000389363	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.951	A	A	19375653	C	A	19375653	3	1	49	1	0	0	0	0	1	0	0	0	16020	710	25	3	183	3	TM6SF2	19	19375653	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	1963352	19375653	39753330	188	11913											
ZNF90	7643	genome.wustl.edu	37	chr19	20215065	20215065	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaccattggaatttagAgatgtggccatagaattctc	12	11	11	7	0	1	2	0	0	1	2	2	5	1	4	2	3	0	0	2	3	4	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:20215065A>G	ENST00000418063.2	+	2	133	c.21A>G	c.(19-21)agA>agG	p.R7R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	7	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGGAATTTAGAGATGTGGCCA	0.413																																																	0																																										SO:0001819	synonymous_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"Zinc fingers, C2H2-type", "-"	13165	protein-coding gene	gene with protein product		603973	"zinc finger protein 90 (HTF9)"			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.21A>G	19.37:g.20215065A>G			B9EH87	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R7	ENST00000418063.2	37	c.21	CCDS46028.1	19																																																																																			ZNF90	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000213988		0.413	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	-	0	79	0	A	NM_007138		20215065	1	tier1	-	no_errors	ENST00000418063	ensembl	human	known	74_37	silent	32.73	37	18	SNP	0.894	G	G	20215065	A	G	20215065	2	3	49	1	0	0	0	0	0	0	0	1	18247	301	11	4		4	ZNF90	19	20215065	Silent	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	839412	20215065	38913918	189	11914											
ZNF208	7757	genome.wustl.edu	37	chr19	22154774	22154774	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtctctccagtgtgaattTtcttatgttccataaggttt	7	19	8	7	0	2	1	0	1	2	0	5	1	4	1	2	1	0	2	2	1	3	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:22154774T>G	ENST00000397126.4	-	4	3210	c.3062A>C	c.(3061-3063)aAa>aCa	p.K1021T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1021					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTGTGAATTTTCTTATGTTC	0.408																																																	0													98	104	102					19																	22154774		2114	4250	6364	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3062A>C	19.37:g.22154774T>G	ENSP00000380315:p.Lys1021Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K1021T	ENST00000397126.4	37	c.3062	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384390	0.25031	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.24908	1.83	2.58	-0.0893	0.13669	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16642	0.0400	.	.	.	0.09310	N	1	B	0.29716	0.255	B	0.29663	0.105	T	0.22068	-1.0227	8	0.54805	T	0.06	.	4.5589	0.12151	0.3715:0.5069:0.0:0.1215	.	893	O43345	ZN208_HUMAN	T	1021;893	ENSP00000380315:K1021T	ENSP00000380315:K1021T	K	-	2	0	ZNF208	21946614	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.578000	0.05841	-0.323000	0.08602	-0.804000	0.03201	AAA	ZNF208	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.408	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	42	0	T	NM_007153		22154774	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	32.50	27	13	SNP	0.003	G	G	22154774	T	G	22154774	3	3	49	1	0	0	0	0	1	0	0	0	17814	1841	64	4	784	4	ZNF208	19	22154774	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	1939709	22154774	36974209	190	11915											
ZNF208	7757	genome.wustl.edu	37	chr19	22157548	22157548	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccttctcaatatcactttTtggaaagaatcttctatgcc	11	16	4	10	0	4	1	2	0	3	1	5	2	4	2	2	1	2	0	2	1	6	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:22157548T>C	ENST00000397126.4	-	4	436	c.288A>G	c.(286-288)caA>caG	p.Q96Q	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Silent_p.Q96Q	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATATCACTTTTTGGAAAGAAT	0.328																																																	0													42	42	42					19																	22157548		2039	4235	6274	SO:0001819	synonymous_variant	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.288A>G	19.37:g.22157548T>C				Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.Q96	ENST00000397126.4	37	c.288	CCDS54240.1	19																																																																																			ZNF208	-	NULL	ENSG00000160321		0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	76	0	T	NM_007153		22157548	-1	tier1	-	no_errors	ENST00000599916	ensembl	human	putative	74_37	silent	39.22	31	20	SNP	0.222	C	C	22157548	T	C	22157548	2	2	49	1	0	0	0	0	0	0	0	1	17814	1838	64	4		4	ZNF208	19	22157548	Silent	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	2774	22157548	36971435	191	11916											
ZNF681	148213	genome.wustl.edu	37	chr19	23927261	23927261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttcacatctgtagggcTtctctccagtatgaattatc	9	16	6	10	0	4	1	1	1	3	0	7	1	5	1	1	1	0	3	1	1	4	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:23927261T>C	ENST00000402377.3	-	4	1232	c.1091A>G	c.(1090-1092)aAg>aGg	p.K364R	ZNF681_ENST00000395385.3_Missense_Mutation_p.K295R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTGTAGGGCTTCTCTCCAGT	0.408																																																	0													60	65	63					19																	23927261		2202	4299	6501	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1091A>G	19.37:g.23927261T>C	ENSP00000384000:p.Lys364Arg		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K364R	ENST00000402377.3	37	c.1091	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	13.71	2.317672	0.40996	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.24908	1.83;1.83	1.64	0.471	0.16752	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	N	0.20574	0.59	0.24408	N	0.994671	P	0.38110	0.618	B	0.38880	0.284	T	0.16276	-1.0408	9	0.62326	D	0.03	.	4.69	0.12776	0.0:0.2018:0.0:0.7982	.	364	Q96N22	ZN681_HUMAN	R	364;295	ENSP00000384000:K364R;ENSP00000378783:K295R	ENSP00000378783:K295R	K	-	2	0	ZNF681	23719101	0.348000	0.24861	0.015000	0.15790	0.028000	0.11728	0.386000	0.20702	-0.086000	0.12550	0.383000	0.25322	AAG	ZNF681	-	pfscan_Znf_C2H2	ENSG00000196172		0.408	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	37	0	T	NM_138286		23927261	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.937	C	C	23927261	T	C	23927261	3	2	49	1	0	0	0	0	1	0	0	0	18136	1609	56	4	850	4	ZNF681	19	23927261	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	1769713	23927261	35201722	192	11917											
ATP4A	495	genome.wustl.edu	37	chr19	36051293	36051293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatggtggagaagaaggcGatgttgcgggtctccagagg	10	7	17	7	2	1	3	0	0	1	3	2	5	1	3	1	5	1	1	1	5	2	1	rs149356804		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:36051293G>A	ENST00000262623.3	-	6	787	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	253					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	AGAAGAAGGCGATGTTGCGGG	0.622																																																	0										1,4405	2.1+/-5.4	0,1,2202	97	99	98		759	2	1	19	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	ATP4A	NM_000704.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1036	36051293	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.759C>T	19.37:g.36051293G>A			O00738	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.I253	ENST00000262623.3	37	c.759	CCDS12467.1	19																																																																																			ATP4A	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.622	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0	57	0	G	NM_000704		36051293	-1	tier1	rs149356804	no_errors	ENST00000262623	ensembl	human	known	74_37	silent	21.88	25	7	SNP	1.000	A	A	36051293	G	A	36051293	2	1	49	1	0	0	0	0	0	0	0	1	1146	1048	37	1		1	ATP4A	19	36051293	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	12124032	36051293	23077690	193	11918											
ZNF461	92283	genome.wustl.edu	37	chr19	37130776	37130776	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctaaaataaccctcctcTtgtccctgatgttgctcaaa	10	14	5	12	0	3	1	1	1	2	0	5	1	5	1	3	0	2	2	3	0	4	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:37130776T>C	ENST00000588268.1	-	6	698	c.471A>G	c.(469-471)caA>caG	p.Q157Q	ZNF461_ENST00000360357.4_Silent_p.Q134Q|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCCTCCTCTTGTCCCTGAT	0.368																																																	0													249	243	245					19																	37130776		1863	4112	5975	SO:0001819	synonymous_variant	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.471A>G	19.37:g.37130776T>C			A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q157	ENST00000588268.1	37	c.471	CCDS54257.1	19																																																																																			ZNF461	-	NULL	ENSG00000197808		0.368	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	-	0	60	0	T	NM_153257		37130776	-1	tier1	-	no_errors	ENST00000588268	ensembl	human	known	74_37	silent	20.00	32	8	SNP	0.022	C	C	37130776	T	C	37130776	2	2	49	1	0	0	0	0	0	0	0	1	17973	1606	56	4		4	ZNF461	19	37130776	Silent	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	1079483	37130776	21998207	194	11919											
ZNF568	374900	genome.wustl.edu	37	chr19	37441118	37441118	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttattgagcacgagaaaAttcatactggggagaaacct	15	10	9	7	1	2	3	1	1	1	2	2	5	2	3	1	2	3	1	1	2	5	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:37441118A>C	ENST00000333987.7	+	7	1569	c.1063A>C	c.(1063-1065)Att>Ctt	p.I355L	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.I291L	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCACGAGAAAATTCATACTGG	0.408																																																	0													71	79	76					19																	37441118		2199	4294	6493	SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.1063A>C	19.37:g.37441118A>C	ENSP00000334685:p.Ile355Leu		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I355L	ENST00000333987.7	37	c.1063	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121419	0.77436	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.35421	1.31;1.31	4.22	3.17	0.36434	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.207227	0.24352	N	0.039280	T	0.30008	0.0751	L	0.40543	1.245	0.80722	D	1	B	0.32382	0.368	B	0.36092	0.217	T	0.08576	-1.0715	10	0.56958	D	0.05	.	8.3042	0.32032	0.9007:0.0:0.0993:0.0	.	355	Q3ZCX4	ZN568_HUMAN	L	355;291	ENSP00000334685:I355L;ENSP00000394514:I291L	ENSP00000334685:I355L	I	+	1	0	ZNF568	42132958	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	0.764000	0.26532	0.714000	0.32081	0.533000	0.62120	ATT	ZNF568	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.408	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	-	0	44	0	A	NM_198539		37441118	1	tier1	-	no_errors	ENST00000333987	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	C	C	37441118	A	C	37441118	3	2	49	1	0	0	0	0	1	0	0	0	18047	101	4	4	1081	4	ZNF568	19	37441118	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	310342	37441118	21687865	195	11920											
SHANK1	50944	genome.wustl.edu	37	chr19	51217187	51217187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagccttcggtctgggcCgccagtgtcaagggggtctc	6	8	15	12	2	3	1	1	0	2	1	5	1	3	1	3	4	1	0	3	4	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:51217187C>T	ENST00000293441.1	-	5	678	c.660G>A	c.(658-660)gcG>gcA	p.A220A	SHANK1_ENST00000391814.1_Silent_p.A220A|SHANK1_ENST00000359082.3_Silent_p.A220A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	220					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGTCTGGGCCGCCAGTGTCA	0.617																																																	0													33	35	34					19																	51217187		2203	4300	6503	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.660G>A	19.37:g.51217187C>T			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A220	ENST00000293441.1	37	c.660	CCDS12799.1	19																																																																																			SHANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000161681		0.617	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	-	0	60	0	C	NM_016148		51217187	-1	tier1	-	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.089	T	T	51217187	C	T	51217187	2	4	49	1	0	0	0	0	0	0	0	1	14309	639	23	1		1	SHANK1	19	51217187	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	13776069	51217187	7911796	196	11921											
ZNF880	400713	genome.wustl.edu	37	chr19	52887189	52887189	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttacatctgagtgaacTgcagctatttcaagctgaaa	13	12	8	8	0	3	3	2	3	1	0	3	3	3	3	0	0	5	4	0	0	5	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:52887189T>A	ENST00000422689.2	+	4	371	c.356T>A	c.(355-357)cTg>cAg	p.L119Q	ZNF880_ENST00000424032.2_3'UTR	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	119					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						CTGAGTGAACTGCAGCTATTT	0.343																																																	0													74	62	65					19																	52887189		692	1591	2283	SO:0001583	missense	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.356T>A	19.37:g.52887189T>A	ENSP00000406318:p.Leu119Gln		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L119Q	ENST00000422689.2	37	c.356	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434628	0.25813	.	.	ENSG00000221923	ENST00000422689	T	0.07114	3.22	0.744	0.744	0.18353	.	.	.	.	.	T	0.06005	0.0156	L	0.31207	0.915	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.39961	-0.9588	8	0.28530	T	0.3	.	.	.	.	.	119	Q6PDB4	ZN880_HUMAN	Q	119	ENSP00000406318:L119Q	ENSP00000406318:L119Q	L	+	2	0	ZNF880	57579001	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.187000	0.16998	0.580000	0.29522	0.368000	0.22195	CTG	ZNF880	-	NULL	ENSG00000221923		0.343	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	38	0	T	NM_001145434		52887189	1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.002	A	A	52887189	T	A	52887189	3	1	49	1	0	0	0	0	1	0	0	0	18245	1580	55	5	370	5	ZNF880	19	52887189	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	1670002	52887189	6241794	197	11922											
SYT5	6861	genome.wustl.edu	37	chr19	55686640	55686640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccccgatggcgtcattgCgagagaagcggtcgaagtcg	8	7	14	12	6	1	1	1	0	0	1	4	5	2	1	3	2	2	0	3	2	2	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:55686640C>T	ENST00000354308.3	-	6	977	c.608G>A	c.(607-609)cGc>cAc	p.R203H	SYT5_ENST00000537500.1_Missense_Mutation_p.R203H|SYT5_ENST00000590851.1_Missense_Mutation_p.R200H|SYT5_ENST00000592935.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	203	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGCGTCATTGCGAGAGAAGCG	0.677																																																	0													44	38	40					19																	55686640		2203	4300	6503	SO:0001583	missense	0			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.608G>A	19.37:g.55686640C>T	ENSP00000346265:p.Arg203His		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.R203H	ENST00000354308.3	37	c.608	CCDS12919.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.486838	0.96323	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.09163	3.01;3.01	4.34	3.31	0.37934	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.057257	0.64402	D	0.000004	T	0.20618	0.0496	L	0.53780	1.695	0.47065	D	0.999302	D;D;D	0.89917	1.0;0.995;1.0	D;P;D	0.67231	0.95;0.516;0.95	T	0.00647	-1.1628	10	0.87932	D	0	.	4.7977	0.13281	0.0:0.7094:0.0:0.2906	.	200;203;203	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	H	203;203;200	ENSP00000442896:R203H;ENSP00000346265:R203H	ENSP00000346265:R203H	R	-	2	0	SYT5	60378452	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.119000	0.71590	2.362000	0.80069	0.555000	0.69702	CGC	SYT5	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000129990		0.677	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	-	0	28	0	C	NM_003180		55686640	-1	tier1	-	no_errors	ENST00000354308	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	T	T	55686640	C	T	55686640	3	4	49	1	0	0	0	0	1	0	0	0	15524	768	27	1	568	1	SYT5	19	55686640	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	2799451	55686640	3442343	198	11923											
PEG3	5178	genome.wustl.edu	37	chr19	57326782	57326782	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagggtcagtaggggccaAgctgcgaatgacagaccatt	11	8	14	8	1	1	3	1	2	0	1	1	4	1	3	2	3	2	2	2	3	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:57326782A>C	ENST00000326441.9	-	10	3391	c.3028T>G	c.(3028-3030)Ttg>Gtg	p.L1010V	PEG3_ENST00000593695.1_Missense_Mutation_p.L884V|PEG3_ENST00000598410.1_Missense_Mutation_p.L886V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.L1010V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1010					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTAGGGGCCAAGCTGCGAATG	0.478																																																	0													75	71	72					19																	57326782		2203	4300	6503	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3028T>G	19.37:g.57326782A>C	ENSP00000326581:p.Leu1010Val		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L1010V	ENST00000326441.9	37	c.3028	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	A	6.215	0.407869	0.11754	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03035	4.07;4.07	4.55	-9.11	0.00711	.	0.861723	0.09400	N	0.807362	T	0.04227	0.0117	L	0.61387	1.9	.	.	.	B;P;D	0.54601	0.027;0.817;0.967	B;B;P	0.46796	0.006;0.366;0.527	T	0.00021	-1.2347	9	0.30078	T	0.28	-1.6035	3.5037	0.07683	0.3346:0.091:0.3954:0.1789	.	886;1010;945	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	1010	ENSP00000326581:L1010V;ENSP00000403051:L1010V	ENSP00000326581:L1010V	L	-	1	2	ZIM2	62018594	0.000000	0.05858	0.000000	0.03702	0.090000	0.18270	-0.865000	0.04250	-3.140000	0.00233	-1.937000	0.00501	TTG	PEG3	-	NULL	ENSG00000198300		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	41	0	A			57326782	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.000	C	C	57326782	A	C	57326782	3	2	49	1	0	0	0	0	1	0	0	0	11759	69	3	4	1742	4	PEG3	19	57326782	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	1640142	57326782	1802201	199	11924											
ZNF814	730051	genome.wustl.edu	37	chr19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattctccacattcatAaggtcttttcccagtgtgaa	10	13	5	13	0	3	1	1	1	2	0	5	1	4	1	3	1	0	0	3	1	2	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																																	0													15	12	13					19																	58385788		688	1564	2252	SO:0001583	missense	0				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"Zinc fingers, C2H2-type", "-"	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y324H	ENST00000435989.2	37	c.970	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204514		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	-	0	90	0	A	XM_001725708		58385788	-1	tier1	-	no_errors	ENST00000435989	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.063	G	G	58385788	A	G	58385788	3	3	49	1	0	0	0	0	1	0	0	0	18224	362	13	4	1601	4	ZNF814	19	58385788	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09	1059006	58385788	743195	200	11925											
SIRPB2	284759	genome.wustl.edu	37	chr20	1456898	1456898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttgcccagggctcctccGagaggtagccagggccagta	7	8	13	13	1	1	1	0	0	1	1	3	2	3	1	5	3	2	3	5	3	2	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr20:1456898G>A	ENST00000359801.3	-	5	979	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	SIRPB2_ENST00000608747.1_5'Flank|SIRPB2_ENST00000444444.2_Missense_Mutation_p.R217W	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	349	Ig-like C1-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCTCCTCCGAGAGGTAGCC	0.607																																																	0													100	89	92					20																	1456898		1568	3582	5150	SO:0001583	missense	0			AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"Signal-regulatory proteins", "Immunoglobulin superfamily / V-set domain containing"	16247	protein-coding gene	gene with protein product			"protein tyrosine phosphatase, non-receptor type 1-like", "protein tyrosine phosphatase, non-receptor type substrate 1-like 3"	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.943C>T	20.37:g.1456898G>A	ENSP00000352849:p.Arg315Trp		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R315W	ENST00000359801.3	37	c.943	CCDS42849.1	20	.	.	.	.	.	.	.	.	.	.	G	9.084	0.999960	0.19121	.	.	ENSG00000196209	ENST00000359801;ENST00000444444	T;T	0.02158	4.66;4.42	3.53	-3.66	0.04489	.	3.365810	0.01204	N	0.007646	T	0.01489	0.0048	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.48019	-0.9071	10	0.48119	T	0.1	-13.4715	9.3121	0.37912	0.6932:0.0:0.3068:0.0	.	217;315	E9PCW6;Q5JXA9	.;SIRB2_HUMAN	W	315;217	ENSP00000352849:R315W;ENSP00000402438:R217W	ENSP00000352849:R315W	R	-	1	2	SIRPB2	1404898	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.870000	0.01641	-0.791000	0.04486	-0.339000	0.08088	CGG	SIRPB2	-	NULL	ENSG00000196209		0.607	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPB2	HGNC	protein_coding	OTTHUMT00000077544.1	-	0	36	0	G	NM_178459		1456898	-1	tier1	-	no_errors	ENST00000359801	ensembl	human	known	74_37	missense	63.04	17	29	SNP	0.000	A	A	1456898	G	A	1456898	3	1	49	1	0	0	0	0	1	0	0	0	14379	1057	37	1	89	1	SIRPB2	20	1456898	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		1456898	61568622	201	11926											
KCNK15	140730	genome.wustl.edu	37	chr20	43379389	43379389	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggagaggtgcgcccgCgacaacctgggcttttcgcc	7	7	14	13	4	0	1	0	0	0	1	1	3	0	1	3	3	3	2	3	3	2	2	rs374466555		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr20:43379389C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.R301R	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGTGCGCCCGCGACAACCTGG	0.736																																																	0													4	3	3					20																	43379389		1749	3299	5048	SO:0001628	intergenic_variant	0				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"chromosome 20 open reading frame 190"	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379389C>T			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	p.R301	ENST00000372851.3	37	c.903	CCDS13338.1	20																																																																																			KCNK15	-	pirsf_2pore_dom_K_chnl_TASK	ENSG00000124249		0.736	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNK15	HGNC	protein_coding	OTTHUMT00000101027.2	-	0	18	0	C	NM_182970		43379389	1	tier1	-	no_errors	ENST00000372861	ensembl	human	known	74_37	silent	44.44	5	4	SNP	0.066	T	T	43379389	C	T	43379389	1	4	49	0	1	0	0	0	0	0	0	0	8089	755	27	1		1	KCNK15	20	43379389	IGR	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	41922491	43379389	19646131	202	11927											
CDH22	64405	genome.wustl.edu	37	chr20	44856189	44856189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgctcgccgtccagcaCgctgtacaccagccgagcgc	6	6	13	16	5	0	0	0	0	0	0	2	1	1	0	4	1	5	4	4	1	1	1	rs376488565		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr20:44856189C>T	ENST00000372262.3	-	3	1028	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	CDH22_ENST00000537909.1_Missense_Mutation_p.V210M	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	210	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCGTCCAGCACGCTGTACACC	0.736																																																	0								C	MET/VAL	1,4405		0,1,2202	30	25	27		628	2.1	1	20		27	0,8598		0,0,4299	no	missense	CDH22	NM_021248.1	21	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	210/829	44856189	1,13003	2203	4299	6502	SO:0001583	missense	0			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.628G>A	20.37:g.44856189C>T	ENSP00000361336:p.Val210Met		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V210M	ENST00000372262.3	37	c.628	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439398	0.43326	2.27E-4	0.0	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52295	0.67;0.67	5.14	2.13	0.27403	Cadherin (4);Cadherin-like (1);	0.137362	0.48286	N	0.000185	T	0.33789	0.0875	L	0.33485	1.01	0.34088	D	0.660408	B	0.32350	0.366	B	0.29862	0.108	T	0.45264	-0.9273	10	0.66056	D	0.02	.	9.9393	0.41570	0.0:0.668:0.2607:0.0712	.	210	Q9UJ99	CAD22_HUMAN	M	210	ENSP00000361336:V210M;ENSP00000437790:V210M	ENSP00000361336:V210M	V	-	1	0	CDH22	44289596	0.032000	0.19561	1.000000	0.80357	0.945000	0.59286	0.351000	0.20096	0.325000	0.23359	-1.126000	0.01995	GTG	CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000149654		0.736	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1		0	61	0	C	NM_021248		44856189	-1			no_errors	ENST00000372262	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.999	T	T	44856189	C	T	44856189	3	4	49	1	0	0	0	0	1	0	0	0	3114	536	19	1	1894	1	CDH22	20	44856189	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	1476800	44856189	18169331	203	11928											
FAM65C	140876	genome.wustl.edu	37	chr20	49225464	49225464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtacctcatagtggtctccGggacagaggcgtgcgtagcc	7	8	14	12	4	2	1	1	0	1	1	3	2	2	2	3	3	3	2	3	3	3	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr20:49225464G>A	ENST00000327979.2	-	9	1068	c.657C>T	c.(655-657)ccC>ccT	p.P219P	FAM65C_ENST00000535356.1_Silent_p.P223P|FAM65C_ENST00000045083.2_Silent_p.P219P			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	219										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTGGTCTCCGGGACAGAGGC	0.647																																																	0													43	34	37					20																	49225464		2202	4300	6502	SO:0001819	synonymous_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.657C>T	20.37:g.49225464G>A			Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.P223	ENST00000327979.2	37	c.669	CCDS13431.2	20																																																																																			FAM65C	-	NULL	ENSG00000042062		0.647	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1	-	0	113	0	G			49225464	-1	tier1	-	no_errors	ENST00000535356	ensembl	human	known	74_37	silent	6.82	82	6	SNP	0.037	A	A	49225464	G	A	49225464	2	1	49	1	0	0	0	0	0	0	0	1	5623	1103	39	1		1	FAM65C	20	49225464	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	4369275	49225464	13800056	204	11929											
KCNG1	3755	genome.wustl.edu	37	chr20	49626152	49626152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgacggagaggttgaCggcggtgacggtcacgaaga	9	6	19	7	5	1	5	1	3	0	2	1	7	1	5	0	6	1	2	0	6	1	1			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr20:49626152C>T	ENST00000371571.4	-	2	1009	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Missense_Mutation_p.V242I	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	242					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAGAGGTTGACGGCGGTGACG	0.682																																																	0													40	34	36					20																	49626152		2202	4300	6502	SO:0001583	missense	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.724G>A	20.37:g.49626152C>T	ENSP00000360626:p.Val242Ile		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.V242I	ENST00000371571.4	37	c.724	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381567	0.42207	.	.	ENSG00000026559	ENST00000371571;ENST00000396017;ENST00000439216	D;D;D	0.97404	-4.37;-2.71;-3.27	5.65	2.71	0.32032	.	0.245620	0.41097	N	0.000960	D	0.91798	0.7405	N	0.25890	0.77	0.39338	D	0.965533	B;B	0.31655	0.334;0.002	B;B	0.25140	0.058;0.002	D	0.86610	0.1872	9	.	.	.	.	10.5898	0.45304	0.0:0.7934:0.0:0.2066	.	242;242	Q9UIX4-2;Q9UIX4	.;KCNG1_HUMAN	I	242	ENSP00000360626:V242I;ENSP00000379338:V242I;ENSP00000394075:V242I	.	V	-	1	0	KCNG1	49059559	0.398000	0.25279	0.443000	0.26883	0.981000	0.71138	0.997000	0.29731	0.348000	0.23949	0.561000	0.74099	GTC	KCNG1	-	prints_K_chnl	ENSG00000026559		0.682	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	-	0	18	0	C	NM_002237		49626152	-1	tier1	-	no_errors	ENST00000371571	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.678	T	T	49626152	C	T	49626152	3	4	49	1	0	0	0	0	1	0	0	0	8054	536	19	1	825	1	KCNG1	20	49626152	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	400688	49626152	13399368	205	11930											
TSHZ2	128553	genome.wustl.edu	37	chr20	51873022	51873022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catttgtgagcaaacatgcgGtaaaactccacctaagcaaa	16	8	7	10	1	0	1	0	1	0	0	1	1	1	1	2	1	5	3	2	1	5	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr20:51873022G>T	ENST00000371497.5	+	2	3912	c.3025G>T	c.(3025-3027)Gta>Tta	p.V1009L	TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1006L|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1006L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1009					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAACATGCGGTAAAACTCCA	0.473																																																	0													122	104	110					20																	51873022		2203	4300	6503	SO:0001583	missense	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3025G>T	20.37:g.51873022G>T	ENSP00000360552:p.Val1009Leu		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.V1009L	ENST00000371497.5	37	c.3025	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663939	0.88251	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.17691	2.26;2.26	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	N	0.12471	0.22	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.24476	-1.0159	10	0.87932	D	0	-9.7172	19.8075	0.96536	0.0:0.0:1.0:0.0	.	1009	Q9NRE2	TSH2_HUMAN	L	1009;1006	ENSP00000360552:V1009L;ENSP00000333114:V1006L	ENSP00000333114:V1006L	V	+	1	0	TSHZ2	51306429	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.470000	0.97683	2.681000	0.91329	0.637000	0.83480	GTA	TSHZ2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182463		0.473	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6		0	51	0	G	NM_173485		51873022	1			no_errors	ENST00000371497	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	51873022	G	T	51873022	3	4	49	1	0	0	0	0	1	0	0	0	16672	1261	44	3	3031	3	TSHZ2	20	51873022	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	2246870	51873022	11152498	206	11931											
LAMA5	3911	genome.wustl.edu	37	chr20	60902360	60902360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggcacagcctcaggcaCgtgccgcaggtctgcacgga	7	5	14	15	4	2	0	1	0	1	0	3	1	2	1	2	4	3	4	2	4	0	0	rs147438795		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr20:60902360C>T	ENST00000252999.3	-	38	5107	c.5041G>A	c.(5041-5043)Gtg>Atg	p.V1681M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1681	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCTCAGGCACGTGCCGCAGG	0.687																																																	0								C	MET/VAL	3,4383		0,3,2190	27	23	24		5041	0	0	20	dbSNP_134	24	0,8592		0,0,4296	no	missense	LAMA5	NM_005560.3	21	0,3,6486	TT,TC,CC		0.0,0.0684,0.0231	possibly-damaging	1681/3696	60902360	3,12975	2193	4296	6489	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5041G>A	20.37:g.60902360C>T	ENSP00000252999:p.Val1681Met		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.V1681M	ENST00000252999.3	37	c.5041	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749831	0.30955	6.84E-4	0.0	ENSG00000130702	ENST00000252999	T	0.20598	2.06	4.78	0.0116	0.14088	Laminin B type IV (1);	0.204155	0.39834	U	0.001255	T	0.14313	0.0346	M	0.65975	2.015	0.09310	N	1	P	0.46859	0.885	B	0.31686	0.134	T	0.22312	-1.0220	10	0.38643	T	0.18	.	6.3597	0.21420	0.1224:0.3765:0.4281:0.073	.	1681	O15230	LAMA5_HUMAN	M	1681	ENSP00000252999:V1681M	ENSP00000252999:V1681M	V	-	1	0	LAMA5	60335755	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-1.369000	0.02578	-0.267000	0.09325	0.423000	0.28283	GTG	LAMA5	-	pfscan_Laminin_B_type_IV	ENSG00000130702		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	61	0	C	NM_005560		60902360	-1	tier1	rs147438795	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.000	T	T	60902360	C	T	60902360	3	4	49	1	0	0	0	0	1	0	0	0	8637	536	19	1	6218	1	LAMA5	20	60902360	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	9029338	60902360	2123160	207	11932											
USP16	10694	genome.wustl.edu	37	chr21	30426152	30426152	+	IGR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaaaatacaagggtactCtattccttatatggagttgt	14	13	9	5	0	1	1	0	0	1	1	2	3	2	2	1	2	2	2	1	2	9	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr21:30426152C>G	ENST00000286788.4	-	0	2005				USP16_ENST00000535828.1_Silent_p.L370L|CCT8_ENST00000470450.1_5'Flank|USP16_ENST00000334352.4_Silent_p.L741L|USP16_ENST00000399976.2_Silent_p.L741L|USP16_ENST00000399975.3_Silent_p.L740L	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)						'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CAAGGGTACTCTATTCCTTAT	0.393																																																	0													124	127	126					21																	30426152		2203	4300	6503	SO:0001628	intergenic_variant	0			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595		21.37:g.30426152C>G			A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L741	ENST00000286788.4	37	c.2223	CCDS33528.1	21																																																																																			USP16	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000156256		0.393	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP16	HGNC	protein_coding	OTTHUMT00000171822.1	-	0	47	0	C			30426152	1	tier1	-	no_errors	ENST00000334352	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.561	G	G	30426152	C	G	30426152	1	3	49	0	1	0	0	0	0	0	0	0	17096	900	32	5		5	USP16	21	30426152	IGR	SNP	C	TCGA-L5-A43E-01A-11D-A247-09		30426152	17703743	208	11933											
TIAM1	7074	genome.wustl.edu	37	chr21	32624335	32624335	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtacaccccctgacgagcCgcatccccggtggagctgct	6	7	11	17	4	0	1	0	1	0	0	2	3	1	2	5	2	4	4	5	2	1	1	rs374340137		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr21:32624335C>T	ENST00000286827.3	-	6	1605	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	TIAM1_ENST00000541036.1_Silent_p.A378A|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	378					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGACGAGCCGCATCCCCGG	0.662																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	59	67	64		1134	-9.7	0.1	21		64	0,8598		0,0,4299	no	coding-synonymous	TIAM1	NM_003253.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		378/1592	32624335	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1134G>A	21.37:g.32624335C>T			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.A378	ENST00000286827.3	37	c.1134	CCDS13609.1	21																																																																																			TIAM1	-	NULL	ENSG00000156299		0.662	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	82	0	C	NM_003253		32624335	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	silent	39.29	34	22	SNP	0.000	T	T	32624335	C	T	32624335	2	4	49	1	0	0	0	0	0	0	0	1	15937	639	23	1		1	TIAM1	21	32624335	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	2198183	32624335	15505560	209	11934											
COL6A2	1292	genome.wustl.edu	37	chr21	47546099	47546099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacatgacgctgttctcCgacctggtcgctgagaagtt	8	10	11	12	4	1	2	0	2	1	1	3	4	1	2	2	1	1	5	2	1	2	2	rs530866573		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr21:47546099C>T	ENST00000300527.4	+	26	2474	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S	COL6A2_ENST00000409416.1_Silent_p.S790S|COL6A2_ENST00000357838.4_Silent_p.S790S|COL6A2_ENST00000397763.1_Silent_p.S790S|COL6A2_ENST00000310645.5_Silent_p.S790S	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	790	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGCTGTTCTCCGACCTGGTCG	0.627													C|||	1	0.000199681	0	0	5008	,	,		19006	0		0	False		,,,				2504	0.001																0													215	212	213					21																	47546099		2202	4300	6502	SO:0001819	synonymous_variant	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2370C>T	21.37:g.47546099C>T			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S790	ENST00000300527.4	37	c.2370	CCDS13728.1	21																																																																																			COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.627	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	34	0	C			47546099	1	tier1	-	no_errors	ENST00000300527	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.879	T	T	47546099	C	T	47546099	2	4	49	1	0	0	0	0	0	0	0	1	3707	639	23	1		1	COL6A2	21	47546099	Silent	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	14921764	47546099	583796	210	11935											
CCT8L2	150160	genome.wustl.edu	37	chr22	17072055	17072055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcatttctgccatcacGtctgagacagctaagcctgc	9	10	7	15	1	4	1	2	1	2	1	4	2	4	1	3	0	4	1	3	0	1	2	rs370876356		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr22:17072055G>A	ENST00000359963.3	-	1	1645	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	462					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGCCATCACGTCTGAGACAG	0.527																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	125	128	127		1386	-4	0	22		127	0,8600		0,0,4300	no	coding-synonymous	CCT8L2	NM_014406.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		462/558	17072055	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1386C>T	22.37:g.17072055G>A			A4QPH3|Q9UJS3	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.D462	ENST00000359963.3	37	c.1386	CCDS13738.1	22																																																																																			CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000198445		0.527	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	-	0	113	0	G			17072055	-1	tier1	-	no_errors	ENST00000359963	ensembl	human	known	74_37	silent	33.66	67	34	SNP	0.009	A	A	17072055	G	A	17072055	2	1	49	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CCT8L2	22	17072055	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09		17072055	34232511	211	11936											
KCNJ4	3761	genome.wustl.edu	37	chr22	38823524	38823524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcgcaggttgcccacgCgccacatgaggcagagcttg	7	8	13	13	3	1	2	0	1	1	1	1	2	1	2	2	2	3	4	2	2	0	3			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr22:38823524C>T	ENST00000303592.3	-	2	872	c.614G>A	c.(613-615)cGc>cAc	p.R205H	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	205					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTTGCCCACGCGCCACATGAG	0.657																																																	0													44	44	44					22																	38823524		2203	4299	6502	SO:0001583	missense	0			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.614G>A	22.37:g.38823524C>T	ENSP00000306497:p.Arg205His		Q14D44	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.R205H	ENST00000303592.3	37	c.614	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696687	0.88830	.	.	ENSG00000168135	ENST00000303592	D	0.97256	-4.31	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.99146	0.9705	H	0.97962	4.115	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	D	0.98988	1.0807	10	0.87932	D	0	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	205	P48050	IRK4_HUMAN	H	205	ENSP00000306497:R205H	ENSP00000306497:R205H	R	-	2	0	KCNJ4	37153470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.787000	0.85759	2.472000	0.83506	0.555000	0.69702	CGC	KCNJ4	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000168135		0.657	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	-	0	38	0	C	NM_004981		38823524	-1	tier1	-	no_errors	ENST00000303592	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T	T	38823524	C	T	38823524	3	4	49	1	0	0	0	0	1	0	0	0	8080	768	27	1	727	1	KCNJ4	22	38823524	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	21751469	38823524	12481042	212	11937											
SULT4A1	25830	genome.wustl.edu	37	chr22	44258218	44258218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcgaagtacttgctctcGaactcccccggggtgctggg	7	9	12	13	3	1	0	0	0	1	0	4	2	2	0	2	3	5	3	2	3	4	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr22:44258218G>A	ENST00000330884.4	-	1	165	c.45C>T	c.(43-45)ttC>ttT	p.F15F	SULT4A1_ENST00000249130.5_Silent_p.F15F|SULT4A1_ENST00000540422.1_Silent_p.F15F	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	15					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACTTGCTCTCGAACTCCCCCG	0.736																																																	0													43	49	47					22																	44258218		2203	4298	6501	SO:0001819	synonymous_variant	0			AF188698	CCDS14051.1	22q13.2	2012-11-05			ENSG00000130540	ENSG00000130540		"Sulfotransferases, cytosolic"	14903	protein-coding gene	gene with protein product		608359				10698717	Standard	NM_014351		Approved	SULTX3, hBR-STL-1	uc003bee.1	Q9BR01	OTTHUMG00000141314	ENST00000330884.4:c.45C>T	22.37:g.44258218G>A			B2R7N3|O43728	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.F15	ENST00000330884.4	37	c.45	CCDS14051.1	22																																																																																			SULT4A1	-	superfamily_P-loop_NTPase	ENSG00000130540		0.736	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT4A1	HGNC	protein_coding	OTTHUMT00000280660.2	-	0	27	0	G	NM_014351		44258218	-1	tier1	-	no_errors	ENST00000330884	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.996	A	A	44258218	G	A	44258218	2	1	49	1	0	0	0	0	0	0	0	1	15430	1049	37	1		1	SULT4A1	22	44258218	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	5434694	44258218	7046348	213	11938											
TTLL8	164714	genome.wustl.edu	37	chr22	50470517	50470517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtacttctggacggcGttgttgcacaggtggatggc	6	12	15	8	2	2	0	1	0	1	0	2	2	2	2	0	6	2	4	0	6	1	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chr22:50470517G>A	ENST00000266182.6	-	11	1304	c.1305C>T	c.(1303-1305)aaC>aaT	p.N435N	TTLL8_ENST00000440475.1_Silent_p.N415N			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	451	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTGGACGGCGTTGTTGCACA	0.667																																																	0													58	66	63					22																	50470517		2095	4210	6305	SO:0001819	synonymous_variant	0					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"Tubulin tyrosine ligase-like family"	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1305C>T	22.37:g.50470517G>A			B5MDV0	Silent	SNP	pfam_TTL/TTLL_fam	p.N435	ENST00000266182.6	37	c.1305		22																																																																																			TTLL8	-	pfam_TTL/TTLL_fam	ENSG00000138892		0.667	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	HGNC	protein_coding		-	0	46	0	G	NM_001080447		50470517	-1	tier1	-	no_errors	ENST00000266182	ensembl	human	known	74_37	silent	11.86	52	7	SNP	1.000	A	A	50470517	G	A	50470517	2	1	49	1	0	0	0	0	0	0	0	1	16782	1136	40	1		1	TTLL8	22	50470517	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	6212299	50470517	834049	214	11939											
NLGN4X	57502	genome.wustl.edu	37	chrX	6069063	6069063	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgggcacgtagatgtttaAgtaaaggcagtcttcatttt	10	14	11	6	2	2	1	1	0	1	1	2	1	2	1	0	2	0	5	0	2	4	7			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chrX:6069063A>C	ENST00000381095.3	-	2	1072	c.445T>G	c.(445-447)Tta>Gta	p.L149V	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Missense_Mutation_p.L149V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.L149V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.L149V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.L149V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	149					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TAGATGTTTAAGTAAAGGCAG	0.428																																																	0													140	119	126					X																	6069063		2203	4300	6503	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.445T>G	X.37:g.6069063A>C	ENSP00000370485:p.Leu149Val		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.L149V	ENST00000381095.3	37	c.445	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159357	0.57368	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	4.08	-1.49	0.08718	Carboxylesterase type B, conserved site (1);Carboxylesterase, type B (1);	.	.	.	.	D	0.87529	0.6200	M	0.86805	2.84	0.47547	D	0.99945	D;D;D	0.76494	0.999;0.994;0.992	D;P;P	0.66084	0.941;0.873;0.7	D	0.84415	0.0568	9	0.87932	D	0	.	8.258	0.31769	0.621:0.0:0.379:0.0	.	149;149;149	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	V	149	ENSP00000370485:L149V;ENSP00000370483:L149V;ENSP00000275857:L149V;ENSP00000370482:L149V;ENSP00000439203:L149V	ENSP00000275857:L149V	L	-	1	2	NLGN4X	6079063	0.994000	0.37717	0.021000	0.16686	0.971000	0.66376	0.597000	0.24059	-0.794000	0.04468	-0.447000	0.05616	TTA	NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.428	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	-	0	44	0	A	NM_020742		6069063	-1	tier1	-	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	79.07	9	34	SNP	0.924	C	C	6069063	A	C	6069063	3	2	49	1	0	0	0	0	1	0	0	0	10503	69	3	4	2025	4	NLGN4X	23	6069063	Missense_Mutation	SNP	A	TCGA-L5-A43E-01A-11D-A247-09		6069063	149201497	215	11940											
FAM47A	158724	genome.wustl.edu	37	chrX	34148882	34148882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcttgggaggctccgagCggagactggacgtccgacga	8	6	17	10	5	1	1	0	0	1	1	3	8	3	3	2	4	1	1	2	4	0	1	rs5973089		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chrX:34148882C>T	ENST00000346193.3	-	1	1565	c.1514G>A	c.(1513-1515)cGc>cAc	p.R505H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	505			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.					p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCGAGCGGAGACTGGA	0.647																																																	2	Substitution - Missense(2)	kidney(1)|endometrium(1)											30	31	31					X																	34148882		2183	4272	6455	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1514G>A	X.37:g.34148882C>T	ENSP00000345029:p.Arg505His		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R505H	ENST00000346193.3	37	c.1514	CCDS43926.1	X	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	0.583	-0.836375	0.02692	.	.	ENSG00000185448	ENST00000346193	T	0.21191	2.02	0.513	-0.53	0.11898	.	.	.	.	.	T	0.11623	0.0283	N	0.21097	0.63	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28106	-1.0054	8	0.40728	T	0.16	.	.	.	.	rs5973089	505	Q5JRC9	FA47A_HUMAN	H	505	ENSP00000345029:R505H	ENSP00000345029:R505H	R	-	2	0	FAM47A	34058803	0.076000	0.21285	0.002000	0.10522	0.006000	0.05464	-0.425000	0.07017	-0.338000	0.08413	-0.722000	0.03604	CGC	FAM47A	-	NULL	ENSG00000185448		0.647	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1		0	22	0	C	NM_203408		34148882	-1			no_errors	ENST00000346193	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.002	T	T	34148882	C	T	34148882	3	4	49	1	0	0	0	0	1	0	0	0	5591	768	27	1	865	1	FAM47A	23	34148882	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	28079819	34148882	121121678	216	11941											
MAGEE1	57692	genome.wustl.edu	37	chrX	75649101	75649101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagggaccgagcacctccGtgccggccactcctggtgag	7	6	14	14	3	0	2	0	2	0	0	2	4	2	3	6	3	2	1	6	3	0	0	rs374134344		TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chrX:75649101G>A	ENST00000361470.2	+	1	1056	c.778G>A	c.(778-780)Gtg>Atg	p.V260M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	260	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GAGCACCTCCGTGCCGGCCAC	0.687																																																	0								G	MET/VAL	1,3831		0,1,1630,570	27	27	27		778	-2.8	0	X		27	0,6724		0,0,2427,1870	no	missense	MAGEE1	NM_020932.2	21	0,1,4057,2440	AA,AG,GG,G		0.0,0.0261,0.0095	benign	260/958	75649101	1,10555	2201	4297	6498	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.778G>A	X.37:g.75649101G>A	ENSP00000354912:p.Val260Met		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.V260M	ENST00000361470.2	37	c.778	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	g	1.396	-0.579340	0.03854	2.61E-4	0.0	ENSG00000198934	ENST00000361470	T	0.09817	2.94	2.28	-2.84	0.05751	.	.	.	.	.	T	0.05777	0.0151	N	0.19112	0.55	0.09310	N	1	B	0.24768	0.111	B	0.06405	0.002	T	0.28618	-1.0038	9	0.46703	T	0.11	.	6.2688	0.20943	0.2249:0.2904:0.4847:0.0	.	260	Q9HCI5	MAGE1_HUMAN	M	260	ENSP00000354912:V260M	ENSP00000354912:V260M	V	+	1	0	MAGEE1	75565505	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.848000	0.04326	-1.557000	0.01692	-0.905000	0.02835	GTG	MAGEE1	-	NULL	ENSG00000198934		0.687	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0	15	0	G	NM_020932		75649101	1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	87.50	2	14	SNP	0.000	A	A	75649101	G	A	75649101	3	1	49	1	0	0	0	0	1	0	0	0	9223	1145	40	1	780	1	MAGEE1	23	75649101	Missense_Mutation	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	41500219	75649101	79621459	217	11942											
DACH2	117154	genome.wustl.edu	37	chrX	85969601	85969601	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccctacttccagtcagcTtacctcctgcatcagttgcc	7	12	5	17	0	2	0	2	0	0	0	5	0	5	0	6	0	5	3	6	0	2	4			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chrX:85969601T>G	ENST00000373125.4	+	6	982	c.982T>G	c.(982-984)Tta>Gta	p.L328V	DACH2_ENST00000508860.1_Missense_Mutation_p.L161V|DACH2_ENST00000373131.1_Missense_Mutation_p.L315V|DACH2_ENST00000510272.1_Missense_Mutation_p.L109V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	328					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCCAGTCAGCTTACCTCCTGC	0.428																																																	0													194	158	170					X																	85969601		2203	4300	6503	SO:0001583	missense	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.982T>G	X.37:g.85969601T>G	ENSP00000362217:p.Leu328Val		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.L328V	ENST00000373125.4	37	c.982	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436940	0.62955	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.87887	-2.29;-2.31	5.02	2.64	0.31445	.	0.000000	0.48767	D	0.000163	D	0.89483	0.6728	M	0.64404	1.975	0.44104	D	0.996877	D;D;D;D	0.76494	0.989;0.986;0.999;0.998	P;P;D;D	0.87578	0.786;0.795;0.998;0.978	D	0.85249	0.1043	10	0.28530	T	0.3	.	5.4695	0.16662	0.0:0.4834:0.0:0.5166	.	194;328;315;328	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	328;315;328;161;109;161	ENSP00000362223:L315V;ENSP00000362217:L328V	ENSP00000345134:L328V	L	+	1	2	DACH2	85856257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.109000	0.57824	0.592000	0.29728	0.417000	0.27973	TTA	DACH2	-	NULL	ENSG00000126733		0.428	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0	17	0	T	NM_053281		85969601	1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	71.43	6	15	SNP	1.000	G	G	85969601	T	G	85969601	3	3	49	1	0	0	0	0	1	0	0	0	4230	1606	56	4	1004	4	DACH2	23	85969601	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	10320500	85969601	69300959	218	11943											
GUCY2F	2986	genome.wustl.edu	37	chrX	108708491	108708491	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcatcataggcttcccgGagctttgggttgttccttag	6	14	11	10	1	1	0	1	0	0	0	3	1	3	1	2	3	2	5	2	3	2	6			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chrX:108708491G>T	ENST00000218006.2	-	3	1203	c.912C>A	c.(910-912)ctC>ctA	p.L304L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	304					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AGGCTTCCCGGAGCTTTGGGT	0.488																																																	0													140	120	126					X																	108708491		2203	4300	6503	SO:0001819	synonymous_variant	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"guanylate cyclase 2D-like, membrane (retina-specific)"	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.912C>A	X.37:g.108708491G>T			Q9UJF1	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.L304	ENST00000218006.2	37	c.912	CCDS14545.1	X																																																																																			GUCY2F	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000101890		0.488	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	-	0	51	0	G	NM_001522		108708491	-1	tier1	-	no_errors	ENST00000218006	ensembl	human	known	74_37	silent	80.56	7	29	SNP	0.816	T	T	108708491	G	T	108708491	2	4	49	1	0	0	0	0	0	0	0	1	6925	1161	41	3		3	GUCY2F	23	108708491	Silent	SNP	G	TCGA-L5-A43E-01A-11D-A247-09	22738890	108708491	46562069	219	11944											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125298766	125298766	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccctctcctccaggaacTtctgggcgcggatgtcatag	7	9	12	13	2	3	0	1	0	2	0	5	2	4	2	3	4	1	0	3	4	2	2			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chrX:125298766T>G	ENST00000360028.2	-	1	1168	c.1142A>C	c.(1141-1143)aAg>aCg	p.K381T	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.K381T			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	381										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCCAGGAACTTCTGGGCGCG	0.632																																																	0													67	71	69					X																	125298766		2197	4298	6495	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1142A>C	X.37:g.125298766T>G	ENSP00000353128:p.Lys381Thr		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K381T	ENST00000360028.2	37	c.1142	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	T	15.94	2.982111	0.53827	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64991	-0.13;-0.13	4.14	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);	0.202238	0.24833	N	0.035222	T	0.61362	0.2341	M	0.75777	2.31	0.34869	D	0.743373	P	0.52577	0.954	P	0.48901	0.594	T	0.65496	-0.6154	10	0.48119	T	0.1	.	3.2351	0.06762	0.0:0.2237:0.2094:0.5669	.	381	Q5VW00	DC122_HUMAN	T	381	ENSP00000441489:K381T;ENSP00000353128:K381T	ENSP00000353128:K381T	K	-	2	0	DCAF12L2	125126447	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.860000	0.48372	0.230000	0.21059	0.486000	0.48141	AAG	DCAF12L2	-	NULL	ENSG00000198354		0.632	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	41	0	T	NM_001013628		125298766	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	63.33	11	19	SNP	1.000	G	G	125298766	T	G	125298766	3	3	49	1	0	0	0	0	1	0	0	0	4274	1609	56	4	253	4	DCAF12L2	23	125298766	Missense_Mutation	SNP	T	TCGA-L5-A43E-01A-11D-A247-09	16590275	125298766	29971794	220	11945											
AIFM1	9131	genome.wustl.edu	37	chrX	129270036	129270036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccacccagatgttagagCgtgcttgtagctctgcattt	8	14	9	10	1	1	2	0	0	1	2	1	2	1	2	2	0	5	5	2	0	3	5			TCGA-L5-A43E-01A-11D-A247-09	TCGA-L5-A43E-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	da409ed9-280e-4463-b1a5-34baa26ea304	6f00c9db-539a-4d31-86d7-86fd02d2b135	g.chrX:129270036C>T	ENST00000287295.3	-	12	1519	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.R426H|AIFM1_ENST00000440263.1_Missense_Mutation_p.R78H|AIFM1_ENST00000346424.2_Missense_Mutation_p.R143H|AIFM1_ENST00000460436.2_Missense_Mutation_p.R91H	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	430	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.R430H(1)|p.R426H(1)|p.R430L(1)|p.R426L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GATGTTAGAGCGTGCTTGTAG	0.522																																																	4	Substitution - Missense(4)	lung(2)|prostate(2)											135	106	116					X																	129270036		2203	4300	6503	SO:0001583	missense	0			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1289G>A	X.37:g.129270036C>T	ENSP00000287295:p.Arg430His		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase	p.R430H	ENST00000287295.3	37	c.1289	CCDS14618.1	X	.	.	.	.	.	.	.	.	.	.	C	35	5.462775	0.96257	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;T;T;T	0.48522	0.82;0.83;0.9;0.81;0.9	6.0	6.0	0.97389	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.88181	2.935	0.80722	D	1	P;D;D	0.89917	0.628;1.0;0.999	B;P;P	0.61940	0.224;0.882;0.896	T	0.78069	-0.2348	10	0.66056	D	0.02	-8.016	19.4264	0.94742	0.0:1.0:0.0:0.0	.	143;426;430	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	H	91;143;426;78;430	ENSP00000431222:R91H;ENSP00000316320:R143H;ENSP00000315122:R426H;ENSP00000405879:R78H;ENSP00000287295:R430H	ENSP00000287295:R430H	R	-	2	0	AIFM1	129097717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.542000	0.85734	0.600000	0.82982	CGC	AIFM1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000156709		0.522	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	HGNC	protein_coding	OTTHUMT00000058247.2	-	0	46	0	C			129270036	-1	tier1	-	no_errors	ENST00000287295	ensembl	human	known	74_37	missense	86.11	5	31	SNP	1.000	T	T	129270036	C	T	129270036	3	4	49	1	0	0	0	0	1	0	0	0	426	768	27	1	572	1	AIFM1	23	129270036	Missense_Mutation	SNP	C	TCGA-L5-A43E-01A-11D-A247-09	3971270	129270036	26000524	221	11946											
FAM167B	84734	genome.wustl.edu	37	chr1	32713177	32713177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacagcccaggtccagaGccaggcctggcgcagggccc	7	3	16	15	1	0	1	0	0	0	1	1	2	1	2	5	5	2	1	5	5	0	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:32713177G>T	ENST00000373582.3	+	1	344	c.155G>T	c.(154-156)aGc>aTc	p.S52I		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGTCCAGAGCCAGGCCTGG	0.647																																																	0													33	41	39					1																	32713177		1944	4123	6067	SO:0001583	missense	0			BC004269	CCDS358.2	1p35.1	2010-08-27	2008-06-11	2008-06-11	ENSG00000183615	ENSG00000183615			28133	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 90"	C1orf90		12477932	Standard	NM_032648		Approved	MGC10820	uc001buw.3	Q9BTA0	OTTHUMG00000007462	ENST00000373582.3:c.155G>T	1.37:g.32713177G>T	ENSP00000362684:p.Ser52Ile		Q5TDH6	Missense_Mutation	SNP	pfam_FAM167	p.S52I	ENST00000373582.3	37	c.155	CCDS358.2	1	.	.	.	.	.	.	.	.	.	.	g	15.65	2.896882	0.52121	.	.	ENSG00000183615	ENST00000373582	T	0.61627	0.09	5.32	4.41	0.53225	.	0.592403	0.15527	U	0.257740	T	0.58509	0.2127	L	0.54323	1.7	0.38323	D	0.943598	P	0.39216	0.664	B	0.42462	0.388	T	0.63189	-0.6693	10	0.49607	T	0.09	-12.4534	13.9856	0.64334	0.0744:0.0:0.9256:0.0	.	52	Q9BTA0	F167B_HUMAN	I	52	ENSP00000362684:S52I	ENSP00000362684:S52I	S	+	2	0	FAM167B	32485764	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	3.548000	0.53670	1.391000	0.46566	-0.258000	0.10820	AGC	FAM167B	-	NULL	ENSG00000183615		0.647	FAM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM167B	HGNC	protein_coding	OTTHUMT00000019615.2		0	49	0	G	NM_032648		32713177	1			no_errors	ENST00000373582	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	32713177	G	T	32713177	3	4	50	1	0	0	0	0	1	0	0	0	5503	971	34	3	157	3	FAM167B	1	32713177	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09		32713177	216537444	1	11947											
PTPRF	5792	genome.wustl.edu	37	chr1	44086782	44086782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagtgctggcgtgggccGcaccggggtgttcatcactc	5	8	16	12	3	2	0	2	0	0	0	3	1	2	0	2	4	2	4	2	4	0	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:44086782G>T	ENST00000359947.4	+	33	5874	c.5534G>T	c.(5533-5535)cGc>cTc	p.R1845L	PTPRF_ENST00000372413.3_Missense_Mutation_p.R1836L|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1836L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1845L|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1204L|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1845	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGCGTGGGCCGCACCGGGGTG	0.627																																																	0													63	55	58					1																	44086782		2203	4300	6503	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5534G>T	1.37:g.44086782G>T	ENSP00000353030:p.Arg1845Leu		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.R1845L	ENST00000359947.4	37	c.5534	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.266565|5.266565	0.95399|0.95399	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96;0.96;0.96	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	.|0.000000	.|0.34828	.|N	.|0.003651	T|T	0.77485|0.77485	0.4137|0.4137	H|H	0.96576|0.96576	3.845|3.845	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D	.|0.97110	.|0.983;0.999;1.0;0.993;1.0	D|D	0.85624|0.85624	0.1266|0.1266	5|10	.|0.87932	.|D	.|0	.|.	19.0214|19.0214	0.92917|0.92917	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1490;1204;1422;1836;1845	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|L	1491|1845;1836;1845;1836;1204;917	.|ENSP00000353030:R1845L;ENSP00000398822:R1836L;ENSP00000361491:R1845L;ENSP00000361490:R1836L;ENSP00000387885:R1204L;ENSP00000361484:R917L	.|ENSP00000353030:R1845L	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43859369|43859369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.801000|9.801000	0.99128|0.99128	2.664000|2.664000	0.90586|0.90586	0.650000|0.650000	0.86243|0.86243	GCA|CGC	PTPRF	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000142949		0.627	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1		0	73	0	G			44086782	1			no_errors	ENST00000359947	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	44086782	G	T	44086782	3	4	50	1	0	0	0	0	1	0	0	0	12846	1087	38	2	5656	2	PTPRF	1	44086782	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	11373605	44086782	205163839	2	11948											
NGF	4803	genome.wustl.edu	37	chr1	115828865	115828865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcacccgctgtcaacGggatttgggtcccggcactt	5	8	12	16	4	1	0	1	0	0	0	2	1	2	1	4	4	1	3	4	4	1	2	rs532714783		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:115828865G>A	ENST00000369512.2	-	3	720	c.552C>T	c.(550-552)ccC>ccT	p.P184P	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	184					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CGCTGTCAACGGGATTTGGGT	0.507																																																	0													96	93	94					1																	115828865		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"Endogenous ligands"	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.552C>T	1.37:g.115828865G>A			A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	p.P184	ENST00000369512.2	37	c.552	CCDS882.1	1																																																																																			NGF	-	pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel	ENSG00000134259		0.507	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGF	HGNC	protein_coding	OTTHUMT00000032832.1	-	0	54	0	G	NM_002506		115828865	-1	tier1	-	no_errors	ENST00000369512	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.841	A	A	115828865	G	A	115828865	2	1	50	1	0	0	0	0	0	0	0	1	10434	1103	39	1		1	NGF	1	115828865	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	71742083	115828865	133421756	3	11949											
ARHGEF2	9181	genome.wustl.edu	37	chr1	155922445	155922445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcatcctgcagcagcCgctcgccacgaggggactca	8	5	14	14	3	1	0	1	0	0	0	3	3	2	2	3	4	3	4	3	4	0	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:155922445C>T	ENST00000361247.4	-	15	2057	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R625Q|ARHGEF2_ENST00000462460.2_Missense_Mutation_p.R698Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R652Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R654Q|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R625Q|ARHGEF2_ENST00000477754.2_Intron	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	653					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCAGCAGCCGCTCGCCACG	0.622																																					Melanoma(178;35 2768 6610 28839)												0													49	50	50					1																	155922445		2203	4300	6503	SO:0001583	missense	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1958G>A	1.37:g.155922445C>T	ENSP00000354837:p.Arg653Gln		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R654Q	ENST00000361247.4	37	c.1961	CCDS53376.1	1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011785	0.54468	.	.	ENSG00000116584	ENST00000313695;ENST00000361247;ENST00000368315;ENST00000368316;ENST00000313667	T;T;T;T;T	0.63096	-0.02;0.11;0.1;-0.02;-0.02	5.14	5.14	0.70334	.	0.000000	0.42548	D	0.000691	T	0.18923	0.0454	N	0.24115	0.695	0.28440	N	0.916861	B;P;B	0.35628	0.085;0.513;0.138	B;B;B	0.21360	0.015;0.019;0.034	T	0.08310	-1.0728	10	0.08599	T	0.76	-26.8618	9.7911	0.40706	0.0:0.9084:0.0:0.0916	.	697;653;652	D3DVA5;Q92974;Q92974-2	.;ARHG2_HUMAN;.	Q	625;653;654;625;652	ENSP00000315325:R625Q;ENSP00000354837:R653Q;ENSP00000357298:R654Q;ENSP00000357299:R625Q;ENSP00000314787:R652Q	ENSP00000314787:R652Q	R	-	2	0	ARHGEF2	154189069	0.147000	0.22687	1.000000	0.80357	0.997000	0.91878	0.561000	0.23515	2.828000	0.97474	0.655000	0.94253	CGG	ARHGEF2	-	NULL	ENSG00000116584		0.622	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	HGNC	protein_coding	OTTHUMT00000046204.2	-	0	38	0	C	NM_004723		155922445	-1	tier1	-	no_errors	ENST00000368315	ensembl	human	known	74_37	missense	36.17	30	17	SNP	1.000	T	T	155922445	C	T	155922445	3	4	50	1	0	0	0	0	1	0	0	0	903	652	23	1	1034	1	ARHGEF2	1	155922445	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	40093580	155922445	93328176	4	11950											
MEF2D	4209	genome.wustl.edu	37	chr1	156438655	156438655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgctgtggctgtggCtgctgtggctgcggtggctg	1	12	20	8	1	0	1	0	1	0	0	0	1	0	1	0	6	3	7	0	6	0	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:156438655C>A	ENST00000348159.4	-	10	1644	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	MEF2D_ENST00000368240.2_Missense_Mutation_p.Q381H|MEF2D_ENST00000353795.3_Missense_Mutation_p.Q342H|MEF2D_ENST00000340875.5_Missense_Mutation_p.Q387H|MEF2D_ENST00000360595.3_Missense_Mutation_p.Q381H|MEF2D_ENST00000464356.2_Missense_Mutation_p.Q380H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	388	Gln/Pro-rich.				adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					gtggctgtggctgctgtggct	0.642																																																	0													60	50	54					1																	156438655		2203	4300	6503	SO:0001583	missense	0			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.1164G>T	1.37:g.156438655C>A	ENSP00000271555:p.Gln388His		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.Q388H	ENST00000348159.4	37	c.1164	CCDS1143.1	1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885573	0.51908	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.60299	0.76;0.2;0.76;0.56;0.76;0.2	3.85	2.87	0.33458	.	0.967339	0.08409	N	0.950250	T	0.31136	0.0787	N	0.08118	0	0.32200	N	0.577926	B;D;B	0.57571	0.41;0.98;0.277	B;P;B	0.50440	0.135;0.641;0.189	T	0.09015	-1.0694	10	0.59425	D	0.04	10.7435	9.2621	0.37619	0.0:0.7799:0.2201:0.0	.	393;388;381	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	H	388;387;381;342;381;380	ENSP00000271555:Q388H;ENSP00000343159:Q387H;ENSP00000357223:Q381H;ENSP00000344705:Q342H;ENSP00000353803:Q381H;ENSP00000388505:Q380H	ENSP00000343159:Q387H	Q	-	3	2	MEF2D	154705279	0.993000	0.37304	0.995000	0.50966	0.983000	0.72400	1.175000	0.31944	1.977000	0.57605	0.462000	0.41574	CAG	MEF2D	-	NULL	ENSG00000116604		0.642	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	-	0	173	0	C	NM_005920		156438655	-1	tier1	-	no_errors	ENST00000348159	ensembl	human	known	74_37	missense	9.76	111	12	SNP	1.000	A	A	156438655	C	A	156438655	3	1	50	1	0	0	0	0	1	0	0	0	9496	796	28	3	413	3	MEF2D	1	156438655	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	516210	156438655	92811966	5	11951											
OR10Z1	128368	genome.wustl.edu	37	chr1	158577071	158577071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatgacctatactgtagtGacccccctccttaatcccat	9	11	5	16	0	0	2	0	2	0	0	2	2	2	2	7	0	1	1	7	0	4	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:158577071G>A	ENST00000361284.1	+	1	843	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					ATACTGTAGTGACCCCCCTCC	0.453																																																	0													230	233	232					1																	158577071		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.843G>A	1.37:g.158577071G>A			Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V281	ENST00000361284.1	37	c.843	CCDS30901.1	1																																																																																			OR10Z1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198967		0.453	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	55	0	G	NM_001004478		158577071	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	15.79	48	9	SNP	0.999	A	A	158577071	G	A	158577071	2	1	50	1	0	0	0	0	0	0	0	1	10962	1277	45	3		3	OR10Z1	1	158577071	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	2138416	158577071	90673550	6	11952											
FCGR2B	2213	genome.wustl.edu	37	chr1	161641285	161641285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcacagccctgagagCgactccattcagtggttcca	9	8	11	13	1	2	1	2	1	0	1	4	4	4	2	3	2	2	1	3	2	0	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:161641285C>T	ENST00000358671.5	+	3	318	c.237C>T	c.(235-237)agC>agT	p.S79S	FCGR2B_ENST00000367962.4_Silent_p.S79S|FCGR2B_ENST00000428605.2_Silent_p.S79S|FCGR2B_ENST00000367960.5_Silent_p.S72S|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000403078.3_Silent_p.S79S|FCGR2B_ENST00000367961.4_Silent_p.S72S|FCGR2B_ENST00000236937.9_Silent_p.S79S	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	79	Ig-like C2-type 1.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCCCTGAGAGCGACTCCATTC	0.577			T	?	ALL																																			Dom	yes		1	1q23	2213	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"		L	0													110	109	110					1																	161641285		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3618	protein-coding gene	gene with protein product		604590	"Fc fragment of IgG, low affinity IIb, receptor for (CD32)"	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.237C>T	1.37:g.161641285C>T			A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S79	ENST00000358671.5	37	c.237	CCDS30924.1	1																																																																																			FCGR2B	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000072694		0.577	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	FCGR2B	HGNC	protein_coding	OTTHUMT00000083337.4	-	0	140	0	C	NM_004001		161641285	1	tier1	-	no_errors	ENST00000358671	ensembl	human	known	74_37	silent	17.95	95	21	SNP	0.000	T	T	161641285	C	T	161641285	2	4	50	1	0	0	0	0	0	0	0	1	5804	767	27	1		1	FCGR2B	1	161641285	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	3064214	161641285	87609336	7	11953											
FMO1	2326	genome.wustl.edu	37	chr1	171252321	171252321	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaagtgtcatgatagagGaaattaatgcaaggaaagaa	19	7	10	5	0	1	3	1	1	0	2	1	5	1	5	1	2	1	1	1	2	7	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:171252321G>T	ENST00000354841.4	+	7	1353	c.1222G>T	c.(1222-1224)Gaa>Taa	p.E408*	FMO1_ENST00000367750.3_Nonsense_Mutation_p.E408*|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Nonsense_Mutation_p.E345*	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	408					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	CATGATAGAGGAAATTAATGC	0.303																																																	0													123	121	122					1																	171252321		2203	4300	6503	SO:0001587	stop_gained	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1222G>T	1.37:g.171252321G>T	ENSP00000346901:p.Glu408*		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.E408*	ENST00000354841.4	37	c.1222	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.139273	0.97320	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	5.5	5.5	0.81552	.	0.055507	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-11.2566	18.1965	0.89823	0.0:0.0:1.0:0.0	.	.	.	.	X	408;345;408	.	ENSP00000346901:E408X	E	+	1	0	FMO1	169518945	1.000000	0.71417	0.906000	0.35671	0.913000	0.54294	5.773000	0.68898	2.584000	0.87258	0.563000	0.77884	GAA	FMO1	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_2	ENSG00000010932		0.303	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1		0	48	0	G	NM_002021		171252321	1			no_errors	ENST00000354841	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	0.991	T	T	171252321	G	T	171252321	4	4	50	1	0	0	0	0	0	1	0	0	5976	1175	41	3	1248	3	FMO1	1	171252321	Nonsense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	9611036	171252321	77998300	8	11954											
PIGR	5284	genome.wustl.edu	37	chr1	207109009	207109009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttaacccacccctcgctGtccaccagcagggggcagcg	7	5	11	18	2	0	0	0	0	0	0	2	0	1	0	6	2	3	3	6	2	1	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:207109009G>T	ENST00000356495.4	-	5	1383	c.1200C>A	c.(1198-1200)gaC>gaA	p.D400E		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	400	Ig-like V-type 4.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACCCCTCGCTGTCCACCAGCA	0.627											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23	28	26					1																	207109009		2203	4300	6503	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1200C>A	1.37:g.207109009G>T	ENSP00000348888:p.Asp400Glu	2165	Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.D400E	ENST00000356495.4	37	c.1200	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	C	1.915	-0.449798	0.04572	.	.	ENSG00000162896	ENST00000356495	T	0.64260	-0.09	5.28	-7.56	0.01322	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.810530	0.00897	N	0.002302	T	0.36054	0.0953	N	0.02379	-0.575	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50783	-0.8787	10	0.07644	T	0.81	-23.5482	19.3309	0.94288	0.1581:0.1118:0.7301:0.0	.	400	P01833	PIGR_HUMAN	E	400	ENSP00000348888:D400E	ENSP00000348888:D400E	D	-	3	2	PIGR	205175632	0.000000	0.05858	0.000000	0.03702	0.575000	0.36095	-1.482000	0.02320	-1.325000	0.02269	-0.120000	0.15030	GAC	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr	ENSG00000162896		0.627	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0	73	0	G	NM_002644		207109009	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	missense	19.54	70	17	SNP	0.000	T	T	207109009	G	T	207109009	3	4	50	1	0	0	0	0	1	0	0	0	11936	1368	48	3	1122	3	PIGR	1	207109009	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	35856688	207109009	42141612	9	11955											
GALNT2	2590	genome.wustl.edu	37	chr1	230410227	230410227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagtcggtgaagcacAtggatttgtgccttactgtg	10	11	14	6	1	0	2	0	1	0	1	1	4	0	3	1	3	3	1	1	3	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr1:230410227A>T	ENST00000366672.4	+	15	1549	c.1477A>T	c.(1477-1479)Atg>Ttg	p.M493L	GALNT2_ENST00000543760.1_Missense_Mutation_p.M455L|GALNT2_ENST00000541865.1_3'UTR|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	493	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGTGAAGCACATGGATTTGTG	0.557																																																	0													104	104	104					1																	230410227		2203	4300	6503	SO:0001583	missense	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1477A>T	1.37:g.230410227A>T	ENSP00000355632:p.Met493Leu		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.M493L	ENST00000366672.4	37	c.1477	CCDS1582.1	1	.	.	.	.	.	.	.	.	.	.	A	5.085	0.201352	0.09652	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.25749	1.78;1.78	5.63	4.47	0.54385	Ricin B-related lectin (1);Ricin B lectin (3);	0.141320	0.85682	N	0.000000	T	0.09423	0.0232	N	0.00873	-1.125	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10042	-1.0647	10	0.46703	T	0.11	.	12.7308	0.57197	0.8626:0.1374:0.0:0.0	.	493;455	Q10471;G3V1S6	GALT2_HUMAN;.	L	455;493	ENSP00000445017:M455L;ENSP00000355632:M493L	ENSP00000355632:M493L	M	+	1	0	GALNT2	228476850	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	9.216000	0.95154	0.934000	0.37316	0.454000	0.30748	ATG	GALNT2	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000143641		0.557	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1	-	0	74	0	A	NM_004481		230410227	1	tier1	-	no_errors	ENST00000366672	ensembl	human	known	74_37	missense	15.19	67	12	SNP	1.000	T	T	230410227	A	T	230410227	3	4	50	1	0	0	0	0	1	0	0	0	6238	217	8	5	1535	5	GALNT2	1	230410227	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	23301218	230410227	18840394	10	11956											
KIDINS220	57498	genome.wustl.edu	37	chr2	8946498	8946498	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactaaaggggtggttccaTactattaaaacaaacaataa	20	9	6	6	0	0	0	0	0	0	0	1	0	1	0	1	3	4	1	1	3	10	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:8946498T>C	ENST00000256707.3	-	7	687	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	KIDINS220_ENST00000427284.1_Splice_Site_p.Y169C|KIDINS220_ENST00000418530.1_Splice_Site_p.Y127C|KIDINS220_ENST00000319688.5_Splice_Site_p.Y170C|KIDINS220_ENST00000473731.1_Splice_Site_p.Y169C	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	169					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTGGTTCCATACTATTAAAA	0.313																																																	0													108	102	104					2																	8946498		1793	4070	5863	SO:0001630	splice_region_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.505-1A>G	2.37:g.8946498T>C			A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Y169C	ENST00000256707.3	37	c.506	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	16.22	3.061063	0.55432	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.09	3.86	0.44501	Ankyrin repeat-containing domain (4);	0.115111	0.64402	D	0.000009	T	0.26919	0.0659	L	0.35542	1.07	0.58432	D	0.999992	D;D;D	0.69078	0.97;0.984;0.997	P;P;D	0.70487	0.797;0.873;0.969	T	0.01545	-1.1328	10	0.66056	D	0.02	.	9.9186	0.41450	0.2571:0.0:0.0:0.7429	.	170;127;169	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	C	169;169;127;169;170;170	ENSP00000256707:Y169C;ENSP00000411849:Y169C;ENSP00000414923:Y127C;ENSP00000418974:Y169C;ENSP00000419964:Y170C;ENSP00000319947:Y170C	ENSP00000256707:Y169C	Y	-	2	0	KIDINS220	8863949	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	4.612000	0.61169	2.061000	0.61500	0.397000	0.26171	TAT	KIDINS220	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000134313		0.313	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0	38	0	T	NM_020738	Missense_Mutation	8946498	-1			no_errors	ENST00000256707	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	C	C	8946498	T	C	8946498	5	2	50	1	0	0	0	0	0	0	1	0	8298	1420	49	4	4905	4	KIDINS220	2	8946498	Splice_Site	SNP	T	TCGA-L5-A43H-01A-11D-A247-09		8946498	234252875	11	11957											
ASAP2	8853	genome.wustl.edu	37	chr2	9437480	9437480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctctggagaagtttggcgGcaactgtgtatgcagagatg	9	10	16	6	1	1	2	0	0	1	2	1	4	1	2	0	4	2	5	0	4	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:9437480G>T	ENST00000281419.3	+	3	591	c.251G>T	c.(250-252)gGc>gTc	p.G84V	ASAP2_ENST00000315273.4_Missense_Mutation_p.G84V	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	84					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAGTTTGGCGGCAACTGTGTA	0.493																																																	0													118	104	109					2																	9437480		2203	4300	6503	SO:0001583	missense	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.251G>T	2.37:g.9437480G>T	ENSP00000281419:p.Gly84Val		D6W4Y8	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.G84V	ENST00000281419.3	37	c.251	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315043	0.60524	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.04156	3.69;3.69	5.3	4.42	0.53409	.	0.156649	0.56097	D	0.000025	T	0.02727	0.0082	N	0.04508	-0.205	0.80722	D	1	B;P	0.42409	0.435;0.779	B;B	0.36885	0.219;0.235	T	0.61729	-0.7003	10	0.38643	T	0.18	.	13.8482	0.63481	0.074:0.0:0.926:0.0	.	84;84	O43150-2;O43150	.;ASAP2_HUMAN	V	84	ENSP00000281419:G84V;ENSP00000316404:G84V	ENSP00000281419:G84V	G	+	2	0	ASAP2	9354931	1.000000	0.71417	0.993000	0.49108	0.865000	0.49528	4.557000	0.60782	1.229000	0.43630	0.650000	0.86243	GGC	ASAP2	-	NULL	ENSG00000151693		0.493	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1		0	56	0	G	NM_003887		9437480	1			no_errors	ENST00000281419	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	9437480	G	T	9437480	3	4	50	1	0	0	0	0	1	0	0	0	1012	1203	42	3	261	3	ASAP2	2	9437480	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	490982	9437480	233761893	12	11958											
THADA	63892	genome.wustl.edu	37	chr2	43818024	43818024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagataaatgcctgctaagaTatccaaacaactttgaatag	18	10	6	7	0	0	3	0	1	0	2	1	3	1	3	2	0	4	1	2	0	9	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:43818024T>C	ENST00000405006.4	-	4	592	c.241A>G	c.(241-243)Atc>Gtc	p.I81V	THADA_ENST00000403856.1_Missense_Mutation_p.I81V|THADA_ENST00000405975.2_Missense_Mutation_p.I81V|THADA_ENST00000402360.2_Missense_Mutation_p.I81V|THADA_ENST00000415080.2_De_novo_Start_OutOfFrame|THADA_ENST00000404790.1_Missense_Mutation_p.I81V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	81										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTGCTAAGATATCCAAACAA	0.338																																																	0													107	97	100					2																	43818024		1799	4076	5875	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.241A>G	2.37:g.43818024T>C	ENSP00000385995:p.Ile81Val		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.I81V	ENST00000405006.4	37	c.241	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	T	11.02	1.516688	0.27123	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.64618	2.76;2.76;-0.11;-0.11;1.31	5.21	-0.0262	0.13931	.	0.271769	0.36167	N	0.002745	T	0.50120	0.1597	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.12630	0.006;0.0;0.0;0.0	B;B;B;B	0.15052	0.012;0.003;0.003;0.001	T	0.33163	-0.9879	10	0.15499	T	0.54	1.7861	8.9739	0.35924	0.0:0.2923:0.0:0.7077	.	81;81;81;81	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	V	81	ENSP00000386088:I81V;ENSP00000385995:I81V;ENSP00000385441:I81V;ENSP00000384266:I81V;ENSP00000385469:I81V	ENSP00000349464:I81V	I	-	1	0	THADA	43671528	0.998000	0.40836	0.998000	0.56505	0.891000	0.51852	0.228000	0.17814	0.096000	0.17463	-0.274000	0.10170	ATC	THADA	-	NULL	ENSG00000115970		0.338	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	-	0	50	0	T	NM_022065		43818024	-1	tier1	-	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	43.84	41	32	SNP	0.999	C	C	43818024	T	C	43818024	3	2	50	1	0	0	0	0	1	0	0	0	15887	1406	49	4	5760	4	THADA	2	43818024	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	34380544	43818024	199381349	13	11959											
LRPPRC	10128	genome.wustl.edu	37	chr2	44177716	44177716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagagggacttacctcgCtccaaagatttatattcata	13	14	6	8	1	1	2	1	0	0	2	3	3	2	3	2	1	1	1	2	1	7	8			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:44177716C>T	ENST00000260665.7	-	15	1730	c.1673G>A	c.(1672-1674)aGc>aAc	p.S558N		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	558					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACTTACCTCGCTCCAAAGATT	0.328																																																	0													56	60	59					2																	44177716		2203	4299	6502	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1673G>A	2.37:g.44177716C>T	ENSP00000260665:p.Ser558Asn		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.S558N	ENST00000260665.7	37	c.1673	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925012	0.52759	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56275	0.47	5.25	5.25	0.73442	.	0.402241	0.30392	N	0.009732	T	0.59609	0.2206	M	0.76574	2.34	0.80722	D	1	P;P	0.51351	0.944;0.931	P;P	0.48400	0.576;0.522	T	0.58940	-0.7547	10	0.25751	T	0.34	-8.1111	14.4536	0.67401	0.0:0.8529:0.1471:0.0	.	458;558	F5H4J6;P42704	.;LPPRC_HUMAN	N	458;558	ENSP00000260665:S558N	ENSP00000260665:S558N	S	-	2	0	LRPPRC	44031220	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.365000	0.44196	2.443000	0.82685	0.549000	0.68633	AGC	LRPPRC	-	NULL	ENSG00000138095		0.328	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1		0	62	0	C	NM_133259		44177716	-1			no_errors	ENST00000260665	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	44177716	C	T	44177716	3	4	50	1	0	0	0	0	1	0	0	0	9000	797	28	3	2607	3	LRPPRC	2	44177716	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	359692	44177716	199021657	14	11960											
CD207	50489	genome.wustl.edu	37	chr2	71062833	71062833	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcagcagcgatgtggcttGctcggggccagagggagatg	7	8	17	9	2	1	2	1	0	1	2	3	4	1	2	1	4	3	3	1	4	0	1	rs397692276|rs11450450		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:71062833G>C	ENST00000410009.3	-	1	119		c.e1+1			NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GATGTGGCTTGCTCGGGGCCA	0.547																																																	0													71	84	80					2																	71062833		2133	4253	6386	SO:0001630	splice_region_variant	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"C-type lectin domain containing", "CD molecules"	17935	protein-coding gene	gene with protein product		604862	"CD207 antigen, langerin"			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.73+1C>G	2.37:g.71062833G>C				Splice_Site	SNP	-	e1+1	ENST00000410009.3	37	c.73+1		2	.	.	.	.	.	.	.	.	.	.	G	8.781	0.928326	0.18131	.	.	ENSG00000116031	ENST00000410009	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8493	0.52401	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD207	70916341	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	2.092000	0.41700	2.482000	0.83794	0.655000	0.94253	.	CD207	-	-	ENSG00000116031		0.547	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4		0	43	0	G	NM_015717	Intron	71062833	-1			no_errors	ENST00000410009	ensembl	human	known	74_37	splice_site	8.33	33	3	SNP	1.000	C	C	71062833	G	C	71062833	5	2	50	1	0	0	0	0	0	0	1	0	2990	1333	46	5	936	5	CD207	2	71062833	Splice_Site	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	26885117	71062833	172136540	15	11961											
ZNF638	27332	genome.wustl.edu	37	chr2	71653884	71653884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaagtaattgatgaagaaGaactaaatatggaagaaatg	21	9	10	1	0	0	6	0	3	0	3	0	7	0	7	0	1	1	1	0	1	10	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:71653884G>A	ENST00000409544.1	+	24	5515	c.4885G>A	c.(4885-4887)Gaa>Aaa	p.E1629K	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1629K|ZNF638_ENST00000409407.1_Missense_Mutation_p.E569K|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1629					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGATGAAGAAGAACTAAATAT	0.353																																																	0													65	63	64					2																	71653884		2203	4300	6503	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4885G>A	2.37:g.71653884G>A	ENSP00000386433:p.Glu1629Lys		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.E1629K	ENST00000409544.1	37	c.4885	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559527	0.86335	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.41400	1.0;1.0;1.37	5.57	5.57	0.84162	.	0.112679	0.39615	N	0.001312	T	0.40862	0.1134	N	0.24115	0.695	0.80722	D	1	P;P	0.48503	0.911;0.856	P;B	0.50192	0.634;0.43	T	0.10474	-1.0628	10	0.30854	T	0.27	-11.5347	17.0482	0.86510	0.0:0.0:1.0:0.0	.	1629;1629	Q14966-3;Q14966	.;ZN638_HUMAN	K	1629;1629;569;569	ENSP00000264447:E1629K;ENSP00000386433:E1629K;ENSP00000386813:E569K	ENSP00000264447:E1629K	E	+	1	0	ZNF638	71507392	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.204000	0.77872	2.623000	0.88846	0.591000	0.81541	GAA	ZNF638	-	NULL	ENSG00000075292		0.353	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	-	0	18	0	G	NM_014497		71653884	1	tier1	-	no_errors	ENST00000264447	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	A	A	71653884	G	A	71653884	3	1	50	1	0	0	0	0	1	0	0	0	18103	943	33	3	4975	3	ZNF638	2	71653884	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	591051	71653884	171545489	16	11962											
EIF5B	9669	genome.wustl.edu	37	chr2	100006805	100006805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttcttgtagagttaactCagaccatgttgagcaagaga	13	11	9	8	0	2	4	1	1	1	3	2	5	2	4	2	0	2	4	2	0	3	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:100006805C>G	ENST00000289371.6	+	16	2729	c.2527C>G	c.(2527-2529)Cag>Gag	p.Q843E		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	843	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGTTAACTCAGACCATGTT	0.408																																					Colon(162;2388 2567 2705 3444)												0													146	135	138					2																	100006805		1951	4160	6111	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2527C>G	2.37:g.100006805C>G	ENSP00000289371:p.Gln843Glu		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.Q843E	ENST00000289371.6	37	c.2527	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932854	0.92458	.	.	ENSG00000158417	ENST00000289371	T	0.76709	-1.04	5.64	5.64	0.86602	.	.	.	.	.	D	0.84279	0.5437	M	0.84156	2.68	0.80722	D	1	P	0.41366	0.747	P	0.45610	0.487	D	0.84072	0.0380	8	.	.	.	-19.5356	20.0625	0.97681	0.0:1.0:0.0:0.0	.	843	O60841	IF2P_HUMAN	E	843	ENSP00000289371:Q843E	.	Q	+	1	0	EIF5B	99373237	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.692000	0.84203	2.816000	0.96949	0.561000	0.74099	CAG	EIF5B	-	superfamily_P-loop_NTPase	ENSG00000158417		0.408	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	-	0	35	0	C	NM_015904		100006805	1	tier1	-	no_errors	ENST00000289371	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	G	G	100006805	C	G	100006805	3	3	50	1	0	0	0	0	1	0	0	0	5060	827	29	5	2589	5	EIF5B	2	100006805	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	28352921	100006805	143192568	17	11963											
REV1	51455	genome.wustl.edu	37	chr2	100019518	100019518	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttttttcttcttgtttCttttcttttctttcactgct	1	28	4	8	0	6	0	1	0	5	0	6	0	6	0	0	1	1	3	0	1	0	11			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:100019518C>G	ENST00000258428.3	-	20	3446	c.3218G>C	c.(3217-3219)aGa>aCa	p.R1073T	REV1_ENST00000393445.3_Missense_Mutation_p.R1072T|RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_Intron	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1073					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						cttcttgtttcttttcttttc	0.383								Direct reversal of damage																																									0													57	54	55					2																	100019518		2203	4300	6503	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3218G>C	2.37:g.100019518C>G	ENSP00000258428:p.Arg1073Thr		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.R1073T	ENST00000258428.3	37	c.3218	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	C	8.674	0.903581	0.17760	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.35605	1.3;1.3	5.95	1.38	0.22167	.	0.232564	0.49305	D	0.000152	T	0.41396	0.1157	M	0.64997	1.995	0.22213	N	0.999284	B;P	0.45827	0.321;0.867	B;P	0.49332	0.101;0.607	T	0.27872	-1.0061	10	0.62326	D	0.03	.	9.279	0.37716	0.0:0.469:0.0:0.531	.	1073;1072	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	T	1072;1073	ENSP00000377091:R1072T;ENSP00000258428:R1073T	ENSP00000258428:R1073T	R	-	2	0	REV1	99385950	0.977000	0.34250	0.598000	0.28837	0.125000	0.20455	0.755000	0.26405	0.340000	0.23745	-0.137000	0.14449	AGA	REV1	-	pirsf_REV1	ENSG00000135945		0.383	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2		0	31	0	C	NM_016316		100019518	-1			no_errors	ENST00000258428	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.311	G	G	100019518	C	G	100019518	3	3	50	1	0	0	0	0	1	0	0	0	13284	913	32	5	553	5	REV1	2	100019518	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	12713	100019518	143179855	18	11964											
AFF3	3899	genome.wustl.edu	37	chr2	100182070	100182070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagcatagttcaaagcctTtccaaacttttccacctgat	11	14	4	12	0	2	1	2	1	0	0	4	1	4	1	4	0	3	2	4	0	3	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:100182070T>C	ENST00000409236.2	-	18	3110	c.2998A>G	c.(2998-3000)Aag>Gag	p.K1000E	AFF3_ENST00000356421.2_Missense_Mutation_p.K1025E|AFF3_ENST00000317233.4_Missense_Mutation_p.K1000E|AFF3_ENST00000409579.1_Missense_Mutation_p.K1025E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1000					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTCAAAGCCTTTCCAAACTTT	0.368																																																	0													135	124	128					2																	100182070		2203	4300	6503	SO:0001583	missense	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2998A>G	2.37:g.100182070T>C	ENSP00000387207:p.Lys1000Glu		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K1025E	ENST00000409236.2	37	c.3073	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	T	29.4	5.001177	0.93227	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000445815	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.67	5.67	0.87782	.	0.050245	0.85682	D	0.000000	D	0.88047	0.6332	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.90072	0.4164	10	0.87932	D	0	.	16.2014	0.82084	0.0:0.0:0.0:1.0	.	1000;1025	P51826;P51826-2	AFF3_HUMAN;.	E	1000;1025;1025;1000;42	ENSP00000317421:K1000E;ENSP00000348793:K1025E;ENSP00000386834:K1025E;ENSP00000387207:K1000E;ENSP00000416685:K42E	ENSP00000317421:K1000E	K	-	1	0	AFF3	99548502	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.965000	0.87945	2.281000	0.76405	0.533000	0.62120	AAG	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.368	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0	42	0	T	NM_002285		100182070	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	C	C	100182070	T	C	100182070	3	2	50	1	0	0	0	0	1	0	0	0	358	1850	64	4	706	4	AFF3	2	100182070	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	162552	100182070	143017303	19	11965											
LYPD6	130574	genome.wustl.edu	37	chr2	150325190	150325190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctacactcagcacacaatGgaagtcacaggaaacagtat	16	7	8	10	0	2	0	2	0	0	0	2	2	2	2	0	2	4	3	0	2	5	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:150325190G>A	ENST00000334166.4	+	4	506	c.249G>A	c.(247-249)atG>atA	p.M83I	LYPD6_ENST00000409381.1_Missense_Mutation_p.M83I	NM_194317.3	NP_919298.1	Q86Y78	LYPD6_HUMAN	LY6/PLAUR domain containing 6	83	UPAR/Ly6.					extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		AGCACACAATGGAAGTCACAG	0.463																																																	0													223	199	208					2																	150325190		2203	4300	6503	SO:0001583	missense	0			BC047013	CCDS2188.1	2q23.2	2008-02-05			ENSG00000187123	ENSG00000187123			28751	protein-coding gene	gene with protein product		613359				12477932	Standard	NM_001195685		Approved	MGC52057	uc021vqt.1	Q86Y78	OTTHUMG00000131852	ENST00000334166.4:c.249G>A	2.37:g.150325190G>A	ENSP00000334463:p.Met83Ile		B3KWC0|Q4G121|Q53TR3|Q659B1	Missense_Mutation	SNP	pfam_LY6_UPAR	p.M83I	ENST00000334166.4	37	c.249	CCDS2188.1	2	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704156	0.68615	.	.	ENSG00000187123	ENST00000409381;ENST00000334166	T;T	0.08984	3.03;3.03	5.39	5.39	0.77823	Ly-6 antigen / uPA receptor -like (1);	0.000000	0.85682	D	0.000000	T	0.15132	0.0365	M	0.71581	2.175	0.58432	D	0.999999	P	0.41420	0.749	B	0.40825	0.341	T	0.00822	-1.1552	10	0.51188	T	0.08	-13.9246	16.6417	0.85128	0.0:0.0:1.0:0.0	.	83	Q86Y78	LYPD6_HUMAN	I	83	ENSP00000386413:M83I;ENSP00000334463:M83I	ENSP00000334463:M83I	M	+	3	0	LYPD6	150033436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.214000	0.89760	2.526000	0.85167	0.555000	0.69702	ATG	LYPD6	-	pfam_LY6_UPAR	ENSG00000187123		0.463	LYPD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD6	HGNC	protein_coding	OTTHUMT00000254800.2	-	0	37	0	G	NM_194317		150325190	1	tier1	-	no_errors	ENST00000334166	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	A	A	150325190	G	A	150325190	3	1	50	1	0	0	0	0	1	0	0	0	9150	1348	47	3	259	3	LYPD6	2	150325190	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	50143120	150325190	92874183	20	11966											
STAT4	6775	genome.wustl.edu	37	chr2	191919261	191919261	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttcatttcctttggttgCtttgtaaaagaaaacaacaa	14	14	6	7	0	1	1	1	0	0	1	2	2	2	1	1	1	3	3	1	1	6	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:191919261C>A	ENST00000392320.2	-	14	1521		c.e14-1		STAT4_ENST00000358470.4_Splice_Site	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4						cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CCTTTGGTTGCTTTGTAAAAG	0.348																																																	0													96	105	102					2																	191919261		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1207-1G>T	2.37:g.191919261C>A			Q96NZ6	Splice_Site	SNP	-	e13-1	ENST00000392320.2	37	c.1207-1	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310897	0.81358	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7061	0.85372	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	STAT4	191627506	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.237000	0.72345	2.463000	0.83235	0.467000	0.42956	.	STAT4	-	-	ENSG00000138378		0.348	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1		0	35	0	C	NM_003151	Intron	191919261	-1			no_errors	ENST00000358470	ensembl	human	known	74_37	splice_site	5.71	33	2	SNP	1.000	A	A	191919261	C	A	191919261	5	1	50	1	0	0	0	0	0	0	1	0	15314	811	28	3	1084	3	STAT4	2	191919261	Splice_Site	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	41594071	191919261	51280112	21	11967											
FZD7	8324	genome.wustl.edu	37	chr2	202900692	202900692	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggcacgtccttcttgcTggccggcttcgtgtccctct	3	13	10	15	3	2	0	0	0	2	0	5	0	4	0	3	3	1	3	3	3	1	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:202900692T>A	ENST00000286201.1	+	1	1383	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	441					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCCTTCTTGCTGGCCGGCTTC	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													109	87	94					2																	202900692		2203	4300	6503	SO:0001583	missense	0			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1322T>A	2.37:g.202900692T>A	ENSP00000286201:p.Leu441Gln	2133	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.L441Q	ENST00000286201.1	37	c.1322	CCDS2351.1	2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.132423	0.77662	.	.	ENSG00000155760	ENST00000286201	D	0.84800	-1.9	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	D	0.94228	0.8147	M	0.93720	3.45	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.95609	0.8670	10	0.87932	D	0	.	15.6714	0.77279	0.0:0.0:0.0:1.0	.	441	O75084	FZD7_HUMAN	Q	441	ENSP00000286201:L441Q	ENSP00000286201:L441Q	L	+	2	0	FZD7	202608937	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.029000	0.88807	2.116000	0.64780	0.459000	0.35465	CTG	FZD7	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000155760		0.612	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1	-	0	81	0	T	NM_003507		202900692	1	tier1	-	no_errors	ENST00000286201	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	A	A	202900692	T	A	202900692	3	1	50	1	0	0	0	0	1	0	0	0	6159	1580	55	5	1324	5	FZD7	2	202900692	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	10981431	202900692	40298681	22	11968											
ALS2CR8	79800	genome.wustl.edu	37	chr2	203847041	203847041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaaatctagttgcaatgGacgagctggtagaagttgga	14	10	12	5	1	2	1	1	0	1	1	2	4	2	3	0	3	2	5	0	3	6	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:203847041G>T	ENST00000402905.3	+	15	2257	c.1936G>T	c.(1936-1938)Gac>Tac	p.D646Y	CARF_ENST00000545262.1_Missense_Mutation_p.D570Y|CARF_ENST00000320443.8_Missense_Mutation_p.D646Y|CARF_ENST00000545253.1_Missense_Mutation_p.D558Y|CARF_ENST00000414439.1_Missense_Mutation_p.D544Y|WDR12_ENST00000477723.1_Intron|CARF_ENST00000438828.2_Missense_Mutation_p.D646Y|CARF_ENST00000428585.1_Missense_Mutation_p.D570Y	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	646					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTTGCAATGGACGAGCTGGT	0.433																																																	0													89	85	86					2																	203847041		1920	4145	6065	SO:0001583	missense	0			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"calcium-response factor"	607586	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.1936G>T	2.37:g.203847041G>T	ENSP00000384006:p.Asp646Tyr		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.D646Y	ENST00000402905.3	37	c.1936	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165261	0.78339	.	.	ENSG00000138380	ENST00000402905;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000320443;ENST00000438828	.	.	.	5.83	5.83	0.93111	.	0.207204	0.41938	D	0.000787	T	0.73916	0.3648	L	0.56769	1.78	0.38709	D	0.953175	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.59546	0.859;0.859;0.8	T	0.76645	-0.2883	9	0.62326	D	0.03	-12.3804	17.2744	0.87111	0.0:0.0:1.0:0.0	.	558;570;646	B4DIA7;G3V1K7;Q8N187	.;.;AL2S8_HUMAN	Y	646;544;570;558;570;646;646	.	ENSP00000316224:D646Y	D	+	1	0	ALS2CR8	203555286	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	3.977000	0.56874	2.769000	0.95229	0.655000	0.94253	GAC	CARF	-	NULL	ENSG00000138380		0.433	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARF	HGNC	protein_coding	OTTHUMT00000335768.5	-	0	37	0	G	NM_001104586		203847041	1	tier1	-	no_errors	ENST00000320443	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	T	T	203847041	G	T	203847041	3	4	50	1	0	0	0	0	1	0	0	0	555	1174	41	3	1986	3	ALS2CR8	2	203847041	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	946349	203847041	39352332	23	11969											
NBEAL1	65065	genome.wustl.edu	37	chr2	204016238	204016238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtagagaattattcccGcatgagacttaagctggtac	13	12	9	7	1	0	2	0	1	0	2	1	4	1	2	1	1	2	4	1	1	6	6	rs372102920		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:204016238G>T	ENST00000449802.1	+	34	5759	c.5426G>T	c.(5425-5427)cGc>cTc	p.R1809L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1809								p.R1809H(1)|p.R519H(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AATTATTCCCGCATGAGACTT	0.343																																																	2	Substitution - Missense(2)	large_intestine(2)											87	80	82					2																	204016238		1826	4078	5904	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5426G>T	2.37:g.204016238G>T	ENSP00000399903:p.Arg1809Leu		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1809L	ENST00000449802.1	37	c.5426	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416860	0.83449	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.60424	0.19	4.86	4.86	0.63082	.	0.063928	0.64402	D	0.000007	T	0.68118	0.2966	M	0.86740	2.835	0.58432	D	0.999999	P;P	0.51653	0.947;0.947	P;P	0.48227	0.571;0.571	T	0.75866	-0.3166	10	0.87932	D	0	.	12.1816	0.54216	0.0846:0.0:0.9154:0.0	.	1809;1798	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	L	1809	ENSP00000399903:R1809L	ENSP00000344985:R1809L	R	+	2	0	NBEAL1	203724483	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.453000	0.73488	2.233000	0.73108	0.460000	0.39030	CGC	NBEAL1	-	NULL	ENSG00000144426		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4		0	52	0	G			204016238	1			no_errors	ENST00000449802	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	204016238	G	T	204016238	3	4	50	1	0	0	0	0	1	0	0	0	10226	1087	38	2	5556	2	NBEAL1	2	204016238	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	169197	204016238	39183135	24	11970											
SP110	3431	genome.wustl.edu	37	chr2	231065665	231065665	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccttcattcatttctgaAgtgccatcaatgatctctgg	8	17	6	10	0	5	2	3	2	2	0	7	2	6	2	2	1	1	0	2	1	2	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr2:231065665A>G	ENST00000358662.4	-	10	1143	c.1065T>C	c.(1063-1065)acT>acC	p.T355T	SP110_ENST00000392048.3_Silent_p.T353T|SP110_ENST00000338556.3_Silent_p.T57T|SP110_ENST00000540870.1_Silent_p.T361T|SP110_ENST00000258381.6_Silent_p.T355T|SP110_ENST00000258382.5_Silent_p.T355T|SP110_ENST00000486146.2_5'Flank	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	355					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCATTTCTGAAGTGCCATCAA	0.473																																																	0													191	173	179					2																	231065665		2203	4300	6503	SO:0001819	synonymous_variant	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1065T>C	2.37:g.231065665A>G			B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.T355	ENST00000358662.4	37	c.1065	CCDS2474.1	2																																																																																			SP110	-	NULL	ENSG00000135899		0.473	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	-	0	69	0	A	NM_080424		231065665	-1	tier1	-	no_errors	ENST00000258381	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.021	G	G	231065665	A	G	231065665	2	3	50	1	0	0	0	0	0	0	0	1	15006	59	3	4		4	SP110	2	231065665	Silent	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	27049427	231065665	12133708	25	11971											
PRSS42	339906	genome.wustl.edu	37	chr3	46875457	46875457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcgcttcggggttctcGccgccctcctctgagaggag	3	9	15	14	4	2	1	0	1	2	1	6	3	3	2	3	4	0	3	3	4	0	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr3:46875457G>A	ENST00000429665.1	-	1	128	c.129C>T	c.(127-129)ggC>ggT	p.G43G	PRSS42_ENST00000447340.1_5'Flank	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	43					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CGGGGTTCTCGCCGCCCTCCT	0.692																																																	0													7	10	9					3																	46875457		1769	3930	5699	SO:0001819	synonymous_variant	0				CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"Serine peptidases / Serine peptidases"	30716	protein-coding gene	gene with protein product	"testis serine protease 2"					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.129C>T	3.37:g.46875457G>A				Silent	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G43	ENST00000429665.1	37	c.129	CCDS46816.1	3																																																																																			PRSS42	-	NULL	ENSG00000178055		0.692	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS42	HGNC	protein_coding	OTTHUMT00000344347.1	-	0	80	0	G	NM_182702		46875457	-1	tier1	-	no_errors	ENST00000429665	ensembl	human	known	74_37	silent	7.69	60	5	SNP	0.000	A	A	46875457	G	A	46875457	2	1	50	1	0	0	0	0	0	0	0	1	12670	1074	38	1		1	PRSS42	3	46875457	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09		46875457	151146973	26	11972											
CCDC14	64770	genome.wustl.edu	37	chr3	123634433	123634433	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattatggaagtgtgagcAggagctgggtcatgttgaag	10	11	15	5	0	2	2	2	2	0	0	2	4	2	4	0	3	2	3	0	3	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr3:123634433A>G	ENST00000488653.2	-	13	2145	c.2055T>C	c.(2053-2055)ccT>ccC	p.P685P	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Silent_p.P644P|CCDC14_ENST00000485727.1_Silent_p.P485P|CCDC14_ENST00000489746.1_Silent_p.P485P|CCDC14_ENST00000310351.4_Silent_p.P525P			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	685					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AAGTGTGAGCAGGAGCTGGGT	0.388																																																	0													95	102	100					3																	123634433		2203	4300	6503	SO:0001819	synonymous_variant	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2055T>C	3.37:g.123634433A>G			B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Silent	SNP	NULL	p.P685	ENST00000488653.2	37	c.2055		3																																																																																			CCDC14	-	NULL	ENSG00000175455		0.388	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding			0	50	0	A	NM_022757		123634433	-1			no_errors	ENST00000488653	ensembl	human	known	74_37	silent	5.10	93	5	SNP	0.004	G	G	123634433	A	G	123634433	2	3	50	1	0	0	0	0	0	0	0	1	2780	175	7	4		4	CCDC14	3	123634433	Silent	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	76758976	123634433	74387997	27	11973											
CCRL1	51554	genome.wustl.edu	37	chr3	132320087	132320087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgagcaaacgcatggaCatcgccatccaagtcacaga	16	5	8	12	2	1	2	1	1	0	1	3	3	2	3	2	1	3	2	2	1	3	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr3:132320087C>T	ENST00000249887.2	+	2	942	c.846C>T	c.(844-846)gaC>gaT	p.D282D	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	282					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										AACGCATGGACATCGCCATCC	0.443																																																	0													160	156	157					3																	132320087		2202	4298	6500	SO:0001819	synonymous_variant	0			AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"GPCR / Class A : Chemokine receptors : Atypical"	1611	protein-coding gene	gene with protein product		606065	"chemokine (C-C motif) receptor-like 1"	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.846C>T	3.37:g.132320087C>T			B2R9U7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCRL1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.D282	ENST00000249887.2	37	c.846	CCDS3075.1	3																																																																																			ACKR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt	ENSG00000129048		0.443	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACKR4	HGNC	protein_coding	OTTHUMT00000357238.2	-	0	54	0	C	NM_016557		132320087	1	tier1	-	no_errors	ENST00000249887	ensembl	human	known	74_37	silent	5.38	88	5	SNP	0.989	T	T	132320087	C	T	132320087	2	4	50	1	0	0	0	0	0	0	0	1	2956	477	17	3		3	CCRL1	3	132320087	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	8685654	132320087	65702343	28	11974											
EPHB1	2047	genome.wustl.edu	37	chr3	134967332	134967332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggcaagtctcaagactGtggcaaccatcaccgccgtg	10	6	10	15	3	2	1	2	0	1	1	3	1	2	1	4	2	1	2	4	2	3	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr3:134967332G>T	ENST00000398015.3	+	14	3041	c.2671G>T	c.(2671-2673)Gtg>Ttg	p.V891L	EPHB1_ENST00000493838.1_Missense_Mutation_p.V452L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	891					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCTCAAGACTGTGGCAACCAT	0.552																																																	0													19	23	22					3																	134967332		2155	4287	6442	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2671G>T	3.37:g.134967332G>T	ENSP00000381097:p.Val891Leu		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V891L	ENST00000398015.3	37	c.2671	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291259	0.23564	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.61392	0.11;0.11	5.65	2.83	0.33086	Protein kinase-like domain (1);	0.283956	0.32578	N	0.005916	T	0.33731	0.0873	N	0.20445	0.575	0.58432	D	0.999999	B	0.17038	0.02	B	0.12156	0.007	T	0.18085	-1.0348	10	0.02654	T	1	.	9.2402	0.37491	0.1343:0.1287:0.737:0.0	.	891	P54762	EPHB1_HUMAN	L	891;452	ENSP00000381097:V891L;ENSP00000419574:V452L	ENSP00000381097:V891L	V	+	1	0	EPHB1	136450022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.300000	0.51834	0.919000	0.36945	-0.140000	0.14226	GTG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom	ENSG00000154928		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	57	0	G	NM_004441		134967332	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	134967332	G	T	134967332	3	4	50	1	0	0	0	0	1	0	0	0	5190	1377	48	3	2725	3	EPHB1	3	134967332	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	2647245	134967332	63055098	29	11975											
MED12L	116931	genome.wustl.edu	37	chr3	151102876	151102876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgacagttactaccttTgccgaaacagacatgtgatg	12	11	9	9	2	0	2	0	1	0	1	1	4	0	2	2	0	4	2	2	0	3	4	rs61740424	byFrequency	TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr3:151102876T>C	ENST00000474524.1	+	34	4918	c.4880T>C	c.(4879-4881)tTg>tCg	p.L1627S	MED12L_ENST00000273432.4_Missense_Mutation_p.L1487S|P2RY12_ENST00000302632.3_5'Flank	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1627						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTACTACCTTTGCCGAAACAG	0.388																																																	0													136	133	134					3																	151102876		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4880T>C	3.37:g.151102876T>C	ENSP00000417235:p.Leu1627Ser		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.L1627S	ENST00000474524.1	37	c.4880	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522610	0.85600	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.70631	-0.35;-0.5	5.63	5.63	0.86233	.	0.077718	0.53938	D	0.000050	D	0.82797	0.5115	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.994;0.991	D	0.84783	0.0774	10	0.87932	D	0	-15.3728	15.5314	0.75964	0.0:0.0:0.0:1.0	.	1487;1626;1627	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	S	1627;1487	ENSP00000417235:L1627S;ENSP00000273432:L1487S	ENSP00000273432:L1487S	L	+	2	0	MED12L	152585566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.277000	0.72608	2.145000	0.66743	0.533000	0.62120	TTG	MED12L	-	NULL	ENSG00000144893		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	44	0	T	NM_053002		151102876	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	C	C	151102876	T	C	151102876	3	2	50	1	0	0	0	0	1	0	0	0	9467	1821	63	4	5014	4	MED12L	3	151102876	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	16135544	151102876	46919554	30	11976											
SENP2	59343	genome.wustl.edu	37	chr3	185347597	185347597	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctcttccggaagaagAtggtgtgggaaatccttcat	9	12	11	9	1	2	2	1	0	1	2	5	4	4	4	3	3	1	0	3	3	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr3:185347597A>T	ENST00000296257.5	+	17	1975	c.1735A>T	c.(1735-1737)Atg>Ttg	p.M579L	SENP2_ENST00000545472.1_Missense_Mutation_p.M569L|SENP2_ENST00000427465.2_Missense_Mutation_p.M403L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	579					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCGGAAGAAGATGGTGTGGGA	0.473																																																	0													190	169	176					3																	185347597		2203	4300	6503	SO:0001583	missense	0			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.1735A>T	3.37:g.185347597A>T	ENSP00000296257:p.Met579Leu		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.M579L	ENST00000296257.5	37	c.1735	CCDS33902.1	3	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716188	0.89205	.	.	ENSG00000163904	ENST00000545472;ENST00000296257;ENST00000437107;ENST00000427465	T;T;T	0.37915	1.17;1.17;1.17	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	M	0.80616	2.505	0.80722	D	1	D;D	0.55172	0.97;0.97	D;D	0.71184	0.972;0.972	T	0.66118	-0.6003	10	0.59425	D	0.04	-34.442	15.0454	0.71825	1.0:0.0:0.0:0.0	.	569;579	B4DQ42;Q9HC62	.;SENP2_HUMAN	L	569;579;450;403	ENSP00000439653:M569L;ENSP00000296257:M579L;ENSP00000394562:M403L	ENSP00000296257:M579L	M	+	1	0	SENP2	186830291	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.110000	0.89562	2.189000	0.69895	0.455000	0.32223	ATG	SENP2	-	pfam_Peptidase_C48	ENSG00000163904		0.473	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	-	0	34	0	A	NM_021627		185347597	1	tier1	-	no_errors	ENST00000296257	ensembl	human	known	74_37	missense	14.67	64	11	SNP	1.000	T	T	185347597	A	T	185347597	3	4	50	1	0	0	0	0	1	0	0	0	14092	333	12	5	1801	5	SENP2	3	185347597	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	34244721	185347597	12674833	31	11977											
DLG1	1739	genome.wustl.edu	37	chr3	196863514	196863514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attatccccaggaatatgctGatttccaacacctccagcaa	13	10	5	13	0	0	1	0	1	0	0	3	2	3	2	5	1	3	2	5	1	5	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr3:196863514G>C	ENST00000419354.1	-	11	1304	c.1018C>G	c.(1018-1020)Cag>Gag	p.Q340E	DLG1_ENST00000392382.2_Missense_Mutation_p.Q307E|DLG1_ENST00000448528.2_Missense_Mutation_p.Q340E|DLG1_ENST00000357674.4_Missense_Mutation_p.Q307E|DLG1_ENST00000443183.1_Missense_Mutation_p.Q224E|DLG1_ENST00000346964.2_Missense_Mutation_p.Q340E|DLG1_ENST00000450955.1_Missense_Mutation_p.Q307E|DLG1_ENST00000452595.1_Missense_Mutation_p.Q224E|DLG1_ENST00000314062.3_Missense_Mutation_p.Q289E|DLG1_ENST00000422288.1_Missense_Mutation_p.Q289E			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	340	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GGAATATGCTGATTTCCAACA	0.383																																																	0													149	136	140					3																	196863514		2203	4300	6503	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1018C>G	3.37:g.196863514G>C	ENSP00000407531:p.Gln340Glu		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.Q340E	ENST00000419354.1	37	c.1018	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197581	0.58126	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.41	5.41	0.78517	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	N	0.20986	0.625	0.80722	D	1	B;P;P;P;B;P;B	0.35944	0.188;0.529;0.518;0.518;0.288;0.474;0.288	B;B;B;B;B;B;B	0.37091	0.087;0.07;0.198;0.198;0.142;0.241;0.142	T	0.02698	-1.1122	10	0.29301	T	0.29	.	18.5365	0.91013	0.0:0.0:1.0:0.0	.	307;224;224;224;307;340;340	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	E	340;340;307;340;289;340;224;289;340;224;307;307;149	ENSP00000345731:Q340E;ENSP00000350303:Q307E;ENSP00000321087:Q289E;ENSP00000407531:Q340E;ENSP00000398939:Q224E;ENSP00000413238:Q289E;ENSP00000391732:Q340E;ENSP00000396658:Q224E;ENSP00000376187:Q307E;ENSP00000411278:Q307E;ENSP00000398702:Q149E	ENSP00000321087:Q289E	Q	-	1	0	DLG1	198347911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.394000	0.97261	2.695000	0.91970	0.655000	0.94253	CAG	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.383	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	-	0	32	0	G	NM_004087		196863514	-1	tier1	-	no_errors	ENST00000346964	ensembl	human	known	74_37	missense	57.50	17	23	SNP	1.000	C	C	196863514	G	C	196863514	3	2	50	1	0	0	0	0	1	0	0	0	4568	1299	45	5	1864	5	DLG1	3	196863514	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	11515917	196863514	1158916	32	11978											
ATP10D	57205	genome.wustl.edu	37	chr4	47517556	47517556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtacctttggtagaagccttCcaaaaggaaatcaccatgtt	13	11	8	9	0	1	1	1	0	0	1	2	2	2	2	4	2	2	3	4	2	6	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr4:47517556C>G	ENST00000273859.3	+	3	623	c.354C>G	c.(352-354)ttC>ttG	p.F118L	ATP10D_ENST00000504445.1_Missense_Mutation_p.F118L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	118					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TAGAAGCCTTCCAAAAGGAAA	0.418																																																	0													162	154	157					4																	47517556		2203	4300	6503	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.354C>G	4.37:g.47517556C>G	ENSP00000273859:p.Phe118Leu		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.F118L	ENST00000273859.3	37	c.354	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314013	0.81358	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.82984	-1.67;-1.67	5.38	4.54	0.55810	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	L	0.46157	1.445	0.48762	D	0.999705	P;D	0.65815	0.778;0.995	B;P	0.58013	0.358;0.831	D	0.85000	0.0899	10	0.45353	T	0.12	-22.8695	13.4261	0.61026	0.0:0.924:0.0:0.076	.	118;118	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	118	ENSP00000273859:F118L;ENSP00000420909:F118L	ENSP00000273859:F118L	F	+	3	2	ATP10D	47212313	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.724000	0.25954	1.266000	0.44231	0.655000	0.94253	TTC	ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	47	0	C	NM_020453		47517556	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	G	G	47517556	C	G	47517556	3	3	50	1	0	0	0	0	1	0	0	0	1119	854	30	5	360	5	ATP10D	4	47517556	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		47517556	143636720	33	11979											
SDAD1	55153	genome.wustl.edu	37	chr4	76902592	76902592	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcacctcttgaggaaaaTtacttaggtactctgggtag	10	14	9	8	0	3	1	1	1	2	0	3	2	3	2	1	3	2	2	1	3	6	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr4:76902592T>C	ENST00000356260.5	-	3	345	c.227A>G	c.(226-228)aAt>aGt	p.N76S	RP11-630D6.5_ENST00000501239.2_RNA|SDAD1_ENST00000395711.4_Missense_Mutation_p.N76S	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	76					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGGAAAATTACTTAGGTA	0.403																																																	0													128	122	124					4																	76902592		2203	4300	6503	SO:0001583	missense	0			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.227A>G	4.37:g.76902592T>C	ENSP00000348596:p.Asn76Ser		Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.N76S	ENST00000356260.5	37	c.227	CCDS3573.2	4	.	.	.	.	.	.	.	.	.	.	T	8.850	0.944319	0.18356	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.12774	2.68;2.65	5.18	4.0	0.46444	Uncharacterised domain NUC130/133, N-terminal (1);Armadillo-type fold (1);	0.470935	0.25854	N	0.027862	T	0.08044	0.0201	N	0.24115	0.695	0.28161	N	0.928997	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.004	T	0.35500	-0.9786	10	0.11182	T	0.66	-10.42	8.8751	0.35340	0.0:0.0895:0.0:0.9105	.	76;76	E7EW05;Q9NVU7	.;SDA1_HUMAN	S	76	ENSP00000348596:N76S;ENSP00000379061:N76S	ENSP00000348596:N76S	N	-	2	0	SDAD1	77121616	0.920000	0.31207	0.997000	0.53966	0.606000	0.37113	0.672000	0.25187	0.809000	0.34255	0.528000	0.53228	AAT	SDAD1	-	pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	ENSG00000198301		0.403	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	HGNC	protein_coding	OTTHUMT00000252418.3	-	0	33	0	T	NM_018115		76902592	-1	tier1	-	no_errors	ENST00000356260	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.994	C	C	76902592	T	C	76902592	3	2	50	1	0	0	0	0	1	0	0	0	13995	1493	52	4	1916	4	SDAD1	4	76902592	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	29385036	76902592	114251684	34	11980											
SH3RF1	57630	genome.wustl.edu	37	chr4	170077752	170077752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaaaatgatgatgtcacCtttgctgaatttaaggtctc	11	14	8	8	1	2	3	1	3	1	0	4	3	2	3	1	1	1	2	1	1	4	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr4:170077752C>A	ENST00000284637.9	-	3	813	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	158	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGATGTCACCTTTGCTGAAT	0.398																																																	0													133	137	136					4																	170077752		2203	4300	6503	SO:0001583	missense	0			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"RING-type (C3HC4) zinc fingers"	17650	protein-coding gene	gene with protein product	"plenty of SH3 domains"		"SH3 multiple domains 2"	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.472G>T	4.37:g.170077752C>A	ENSP00000284637:p.Gly158Cys		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.G158C	ENST00000284637.9	37	c.472	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516157	0.85495	.	.	ENSG00000154447	ENST00000284637	T	0.70045	-0.45	5.76	5.76	0.90799	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.89160	0.6636	H	0.97415	4	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.92069	0.5663	10	0.87932	D	0	-23.2237	20.3242	0.98691	0.0:1.0:0.0:0.0	.	158	Q7Z6J0	SH3R1_HUMAN	C	158	ENSP00000284637:G158C	ENSP00000284637:G158C	G	-	1	0	SH3RF1	170314327	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.445000	0.80570	2.882000	0.98803	0.655000	0.94253	GGT	SH3RF1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000154447		0.398	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3		0	45	0	C	NM_020870		170077752	-1			no_errors	ENST00000284637	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	170077752	C	A	170077752	3	1	50	1	0	0	0	0	1	0	0	0	14303	681	24	3	2234	3	SH3RF1	4	170077752	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	93175160	170077752	21076524	35	11981											
GOLPH3	64083	genome.wustl.edu	37	chr5	32143866	32143866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcttacctttcttgttaAtagacttttacgtctcattc	7	20	3	11	1	3	1	1	0	3	1	6	1	4	1	2	0	2	1	2	0	4	8			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:32143866A>G	ENST00000265070.6	-	2	661	c.346T>C	c.(346-348)Tta>Cta	p.L116L	GOLPH3_ENST00000512668.1_Intron	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	116					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TTTCTTGTTAATAGACTTTTA	0.343																																																	0													138	147	144					5																	32143866		2203	4300	6503	SO:0001819	synonymous_variant	0			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.346T>C	5.37:g.32143866A>G			Q9UIW5	Silent	SNP	pfam_GPP34	p.L116	ENST00000265070.6	37	c.346	CCDS3896.1	5																																																																																			GOLPH3	-	pfam_GPP34	ENSG00000113384		0.343	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3	HGNC	protein_coding	OTTHUMT00000207363.2	-	0	38	0	A	NM_022130		32143866	-1	tier1	-	no_errors	ENST00000265070	ensembl	human	known	74_37	silent	12.50	42	6	SNP	0.990	G	G	32143866	A	G	32143866	2	3	50	1	0	0	0	0	0	0	0	1	6594	98	4	4		4	GOLPH3	5	32143866	Silent	SNP	A	TCGA-L5-A43H-01A-11D-A247-09		32143866	148771394	36	11982											
PRLR	5618	genome.wustl.edu	37	chr5	35072680	35072680	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatatggatcactcacctcCcactcagctgctttctcggg	7	11	8	15	1	4	0	3	0	1	0	6	1	5	1	2	2	2	3	2	2	1	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:35072680C>T	ENST00000382002.5	-	6	966	c.540G>A	c.(538-540)tgG>tgA	p.W180*	PRLR_ENST00000511486.1_Nonsense_Mutation_p.W79*|PRLR_ENST00000342362.5_Nonsense_Mutation_p.W79*|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Nonsense_Mutation_p.W180*|PRLR_ENST00000513753.1_Nonsense_Mutation_p.W180*|PRLR_ENST00000231423.3_Nonsense_Mutation_p.W180*|PRLR_ENST00000542609.1_Nonsense_Mutation_p.W180*|PRLR_ENST00000397391.3_Nonsense_Mutation_p.W109*|PRLR_ENST00000310101.5_Nonsense_Mutation_p.W180*	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	180	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	CACTCACCTCCCACTCAGCTG	0.438																																																	0													122	119	120					5																	35072680		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.540G>A	5.37:g.35072680C>T	ENSP00000371432:p.Trp180*		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Nonsense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.W180*	ENST00000382002.5	37	c.540	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445153	0.83993	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101	.	.	.	5.68	5.68	0.88126	.	0.104277	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6453	19.7781	0.96402	0.0:1.0:0.0:0.0	.	.	.	.	X	180;180;180;109;180;79;180;79;180	.	ENSP00000231423:W180X	W	-	3	0	PRLR	35108437	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	6.210000	0.72176	2.694000	0.91930	0.650000	0.86243	TGG	PRLR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113494		0.438	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	-	0	32	0	C			35072680	-1	tier1	-	no_errors	ENST00000382002	ensembl	human	known	74_37	nonsense	29.09	39	16	SNP	1.000	T	T	35072680	C	T	35072680	4	4	50	1	0	0	0	0	0	1	0	0	12573	624	22	3	1348	3	PRLR	5	35072680	Nonsense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	2928814	35072680	145842580	37	11983											
KIF2A	3796	genome.wustl.edu	37	chr5	61661149	61661149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactcaggtgttaagagattCtttcataggtgaaaactctc	12	13	8	8	0	4	2	2	1	2	1	5	3	4	2	0	2	1	1	0	2	4	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:61661149C>G	ENST00000401507.3	+	15	1858	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	KIF2A_ENST00000381103.2_Missense_Mutation_p.S496C|KIF2A_ENST00000506857.1_Missense_Mutation_p.S470C|KIF2A_ENST00000407818.3_Missense_Mutation_p.S516C|KIF2A_ENST00000509663.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	516	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTAAGAGATTCTTTCATAGGT	0.328																																																	0													79	81	80					5																	61661149		2203	4300	6503	SO:0001583	missense	0			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"Kinesins"	6318	protein-coding gene	gene with protein product		602591	"kinesin heavy chain member 2"	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1547C>G	5.37:g.61661149C>G	ENSP00000385622:p.Ser516Cys		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S516C	ENST00000401507.3	37	c.1547	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179143	0.78564	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	5.56	4.69	0.59074	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.78049	2.395	0.80722	D	1	D;D;P;D	0.59357	0.985;0.981;0.931;0.958	D;P;P;P	0.63957	0.92;0.869;0.798;0.908	T	0.51293	-0.8724	10	0.87932	D	0	.	14.5117	0.67791	0.0:0.9292:0.0:0.0708	.	516;516;516;496	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	C	516;496;516;470	ENSP00000385622:S516C;ENSP00000370493:S496C;ENSP00000385000:S516C;ENSP00000423772:S470C	ENSP00000370493:S496C	S	+	2	0	KIF2A	61696906	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.815000	0.86186	1.351000	0.45789	0.563000	0.77884	TCT	KIF2A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000068796		0.328	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	-	0	31	0	C	NM_004520		61661149	1	tier1	-	no_errors	ENST00000407818	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G	G	61661149	C	G	61661149	3	3	50	1	0	0	0	0	1	0	0	0	8324	913	32	5	1605	5	KIF2A	5	61661149	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	26588469	61661149	119254111	38	11984											
MAP1B	4131	genome.wustl.edu	37	chr5	71492144	71492144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgatgcatacatcaggGagaagagggagtctgtggcc	11	7	16	7	0	2	3	1	1	1	2	2	5	2	4	1	4	2	2	1	4	2	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:71492144G>A	ENST00000296755.7	+	5	3260	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	988					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATACATCAGGGAGAAGAGGGA	0.557																																					Melanoma(17;367 822 11631 31730 47712)												0													72	73	73					5																	71492144		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2962G>A	5.37:g.71492144G>A	ENSP00000296755:p.Glu988Lys		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.E988K	ENST00000296755.7	37	c.2962	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674157	0.29693	.	.	ENSG00000131711	ENST00000296755	T	0.05258	3.47	6.08	4.3	0.51218	.	0.170737	0.41396	N	0.000886	T	0.03739	0.0106	N	0.08118	0	0.32507	N	0.53813	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20338	-1.0278	10	0.22706	T	0.39	-10.9549	12.2817	0.54767	0.1373:0.0:0.8627:0.0	.	862;988	A2BDK6;P46821	.;MAP1B_HUMAN	K	988	ENSP00000296755:E988K	ENSP00000296755:E988K	E	+	1	0	MAP1B	71527900	1.000000	0.71417	0.975000	0.42487	0.262000	0.26303	4.746000	0.62133	0.904000	0.36572	0.655000	0.94253	GAG	MAP1B	-	NULL	ENSG00000131711		0.557	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0	25	0	G	NM_005909		71492144	1			no_errors	ENST00000296755	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.613	A	A	71492144	G	A	71492144	3	1	50	1	0	0	0	0	1	0	0	0	9266	1175	41	3	2980	3	MAP1B	5	71492144	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	9830995	71492144	109423116	39	11985											
MEF2C	4208	genome.wustl.edu	37	chr5	88027681	88027681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttaccaggtgagaccagCagacctggtgagtttcgggg	10	8	15	8	1	0	3	0	2	0	2	1	4	0	3	3	4	2	3	3	4	2	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:88027681C>T	ENST00000437473.2	-	7	1092	c.675G>A	c.(673-675)ctG>ctA	p.L225L	MEF2C_ENST00000514028.1_Silent_p.L225L|MEF2C_ENST00000340208.5_Silent_p.L243L|MEF2C_ENST00000504921.2_Silent_p.L225L|MEF2C_ENST00000506554.1_Silent_p.L225L|MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000514015.1_Silent_p.L225L|MEF2C_ENST00000424173.2_Silent_p.L223L|MEF2C_ENST00000508569.1_Silent_p.L225L|MEF2C_ENST00000510942.1_Silent_p.L225L|MEF2C_ENST00000539796.1_Silent_p.L177L	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	225					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTGAGACCAGCAGACCTGGTG	0.408										HNSCC(66;0.2)																																							0													83	80	81					5																	88027681		1856	4087	5943	SO:0001819	synonymous_variant	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"Myocyte enhancer factors"	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.675G>A	5.37:g.88027681C>T			C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.L225	ENST00000437473.2	37	c.675	CCDS47245.1	5																																																																																			MEF2C	-	NULL	ENSG00000081189		0.408	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	-	0	62	0	C	NM_002397		88027681	-1	tier1	-	no_errors	ENST00000437473	ensembl	human	known	74_37	silent	18.18	54	12	SNP	1.000	T	T	88027681	C	T	88027681	2	4	50	1	0	0	0	0	0	0	0	1	9495	697	25	3		3	MEF2C	5	88027681	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	16535537	88027681	92887579	40	11986											
CHD1	1105	genome.wustl.edu	37	chr5	98232051	98232051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccaataaaaaaggtccaTataattgatgttcatgaaac	18	11	5	7	0	1	2	1	2	0	0	2	2	2	2	2	1	2	1	2	1	8	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:98232051T>C	ENST00000284049.3	-	11	1738	c.1589A>G	c.(1588-1590)tAt>tGt	p.Y530C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	530	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAAAGGTCCATATAATTGATG	0.378																																																	0													98	101	100					5																	98232051		2203	4300	6503	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1589A>G	5.37:g.98232051T>C	ENSP00000284049:p.Tyr530Cys		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Y530C	ENST00000284049.3	37	c.1589	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696763	0.68386	.	.	ENSG00000153922	ENST00000284049	D	0.92911	-3.13	5.12	5.12	0.69794	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.31246	U	0.007998	D	0.91543	0.7329	L	0.53561	1.675	0.80722	D	1	B	0.33171	0.4	B	0.40101	0.319	D	0.91814	0.5462	10	0.72032	D	0.01	.	15.2078	0.73192	0.0:0.0:0.0:1.0	.	530	O14646	CHD1_HUMAN	C	530	ENSP00000284049:Y530C	ENSP00000284049:Y530C	Y	-	2	0	CHD1	98259951	1.000000	0.71417	0.999000	0.59377	0.754000	0.42855	7.970000	0.88000	2.052000	0.61016	0.477000	0.44152	TAT	CHD1	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000153922		0.378	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	26	0	T	NM_001270		98232051	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C	C	98232051	T	C	98232051	3	2	50	1	0	0	0	0	1	0	0	0	3330	1406	49	4	3643	4	CHD1	5	98232051	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	10204370	98232051	82683209	41	11987											
PCDHA6	56142	genome.wustl.edu	37	chr5	140209869	140209869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccacccaccgagggcgcGtgcacggcggacaagcccac	8	1	14	18	6	0	0	0	0	0	0	0	2	0	1	4	3	2	1	4	3	1	0	rs536478075		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:140209869G>A	ENST00000529310.1	+	1	2307	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A731A(5)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGCGCGTGCACGGCGG	0.687																																																	5	Substitution - coding silent(5)	haematopoietic_and_lymphoid_tissue(3)|lung(2)											46	45	45					5																	140209869		2203	4298	6501	SO:0001819	synonymous_variant	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2193G>A	5.37:g.140209869G>A			O75283|Q9NRT8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A731	ENST00000529310.1	37	c.2193	CCDS47281.1	5																																																																																			PCDHA6	-	NULL	ENSG00000081842		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	-	0	87	0	G	NM_018909		140209869	1	tier1	-	no_errors	ENST00000529310	ensembl	human	known	74_37	silent	19.15	38	9	SNP	0.049	A	A	140209869	G	A	140209869	2	1	50	1	0	0	0	0	0	0	0	1	11567	1132	40	1		1	PCDHA6	5	140209869	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	41977818	140209869	40705391	42	11988											
TCERG1	10915	genome.wustl.edu	37	chr5	145834757	145834757	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccaccacggccgccCtttggacgtcctccttttga	5	10	7	19	3	0	1	0	1	0	0	3	2	3	2	8	2	0	0	8	2	0	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:145834757C>G	ENST00000296702.5	+	2	236	c.198C>G	c.(196-198)ccC>ccG	p.P66P	TCERG1_ENST00000394421.2_Silent_p.P66P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	66	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACGGCCGCCCTTTGGACGTC	0.587																																																	0													120	122	121					5																	145834757		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.198C>G	5.37:g.145834757C>G			Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.P66	ENST00000296702.5	37	c.198	CCDS4282.1	5																																																																																			TCERG1	-	NULL	ENSG00000113649		0.587	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	-	0	58	0	C	NM_001040006		145834757	1	tier1	-	no_errors	ENST00000296702	ensembl	human	known	74_37	silent	12.50	42	6	SNP	0.907	G	G	145834757	C	G	145834757	2	3	50	1	0	0	0	0	0	0	0	1	15732	668	24	5		5	TCERG1	5	145834757	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	5624888	145834757	35080503	43	11989											
CLK4	57396	genome.wustl.edu	37	chr5	178040553	178040553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagctgttttctttaatGaaatcgtaagtactaagtcc	14	14	7	6	1	1	2	0	1	1	1	3	2	2	2	1	0	2	4	1	0	6	7			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:178040553G>T	ENST00000316308.4	-	7	915	c.747C>A	c.(745-747)ttC>ttA	p.F249L		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTTCTTTAATGAAATCGTAAG	0.378																																																	0													86	85	86					5																	178040553		2203	4300	6503	SO:0001583	missense	0			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"CDC-like kinases"	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.747C>A	5.37:g.178040553G>T	ENSP00000316948:p.Phe249Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F249L	ENST00000316308.4	37	c.747	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111060	0.77210	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.17370	2.28	5.33	2.1	0.27182	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	L	0.37561	1.115	0.80722	D	1	D;D;D	0.61080	0.984;0.989;0.989	D;P;P	0.63033	0.91;0.878;0.878	T	0.02098	-1.1214	10	0.87932	D	0	.	5.4936	0.16789	0.5073:0.0:0.4927:0.0	.	249;249;249	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	L	249	ENSP00000316948:F249L	ENSP00000316948:F249L	F	-	3	2	CLK4	177973159	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.755000	0.38379	0.602000	0.29896	-0.216000	0.12614	TTC	CLK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113240		0.378	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	-	0	42	0	G			178040553	-1	tier1	-	no_errors	ENST00000316308	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	T	T	178040553	G	T	178040553	3	4	50	1	0	0	0	0	1	0	0	0	3546	1281	45	3	726	3	CLK4	5	178040553	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	32205796	178040553	2874707	44	11990											
ZNF354C	30832	genome.wustl.edu	37	chr5	178506536	178506536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggaagggatacagccagtTtacatctctagctgaacatc	12	10	10	9	0	1	1	0	1	1	0	3	3	1	3	1	2	5	2	1	2	5	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:178506536T>C	ENST00000315475.6	+	5	1409	c.1103T>C	c.(1102-1104)tTt>tCt	p.F368S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TACAGCCAGTTTACATCTCTA	0.423																																																	0													119	116	117					5																	178506536		2203	4300	6503	SO:0001583	missense	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1103T>C	5.37:g.178506536T>C	ENSP00000324064:p.Phe368Ser		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F368S	ENST00000315475.6	37	c.1103	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.378807	0.01204	.	.	ENSG00000177932	ENST00000315475	T	0.04917	3.53	4.04	1.38	0.22167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00998	0.0033	N	0.00096	-2.155	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.46133	-0.9213	9	0.02654	T	1	-2.2491	4.5826	0.12266	0.0:0.108:0.3993:0.4928	.	368	Q86Y25	Z354C_HUMAN	S	368	ENSP00000324064:F368S	ENSP00000324064:F368S	F	+	2	0	ZNF354C	178439142	0.000000	0.05858	0.498000	0.27564	0.434000	0.31775	-0.395000	0.07287	0.683000	0.31428	0.482000	0.46254	TTT	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177932		0.423	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2		0	23	0	T			178506536	1			no_errors	ENST00000315475	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	C	C	178506536	T	C	178506536	3	2	50	1	0	0	0	0	1	0	0	0	17914	1841	64	4	1117	4	ZNF354C	5	178506536	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	465983	178506536	2408724	45	11991											
SQSTM1	8878	genome.wustl.edu	37	chr5	179260710	179260710	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagaatccgaagggccaAgctctctggacccctcccag	9	6	10	16	1	1	1	0	0	1	1	4	3	3	2	6	2	2	1	6	2	3	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr5:179260710A>T	ENST00000389805.4	+	7	1271	c.1093A>T	c.(1093-1095)Agc>Tgc	p.S365C	SQSTM1_ENST00000360718.5_Missense_Mutation_p.S281C|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S281C|SQSTM1_ENST00000402874.3_Missense_Mutation_p.S281C|SQSTM1_ENST00000510187.1_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	365	Interaction with NTRK1. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGAAGGGCCAAGCTCTCTGGA	0.547																																																	0													76	75	75					5																	179260710		2203	4300	6503	SO:0001583	missense	0			U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"Paget disease of bone 3", "oxidative stress induced like"	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.1093A>T	5.37:g.179260710A>T	ENSP00000374455:p.Ser365Cys		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.S365C	ENST00000389805.4	37	c.1093	CCDS34317.1	5	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886665	0.33348	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000360718	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.16	2.36	0.29203	.	0.742696	0.13881	N	0.356314	T	0.69566	0.3125	L	0.29908	0.895	0.26118	N	0.980589	B	0.15719	0.014	B	0.10450	0.005	T	0.56878	-0.7906	10	0.38643	T	0.18	-10.7201	3.81	0.08793	0.5991:0.0:0.1055:0.2954	.	365	Q13501	SQSTM_HUMAN	C	281;365;221;281;281	ENSP00000366128:S281C;ENSP00000374455:S365C;ENSP00000385553:S281C;ENSP00000353944:S281C	ENSP00000353944:S281C	S	+	1	0	SQSTM1	179193316	0.698000	0.27777	0.838000	0.33150	0.976000	0.68499	1.277000	0.33167	0.653000	0.30826	0.459000	0.35465	AGC	SQSTM1	-	NULL	ENSG00000161011		0.547	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQSTM1	HGNC	protein_coding	OTTHUMT00000319344.1		0	23	0	A			179260710	1			no_errors	ENST00000389805	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.898	T	T	179260710	A	T	179260710	3	4	50	1	0	0	0	0	1	0	0	0	15177	72	3	5	1119	5	SQSTM1	5	179260710	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	754174	179260710	1654550	46	11992											
TFAP2A	7020	genome.wustl.edu	37	chr6	10402728	10402728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtggattcgcttaccctCtactagtgatgtgagcaggg	9	11	12	9	1	1	2	0	2	1	0	2	3	1	3	1	2	3	2	1	2	4	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr6:10402728C>A	ENST00000482890.1	-	6	1232	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TFAP2A_ENST00000379604.2_Nonsense_Mutation_p.E294*|TFAP2A_ENST00000319516.4_Nonsense_Mutation_p.E290*|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Nonsense_Mutation_p.E296*|TFAP2A_ENST00000379608.3_Nonsense_Mutation_p.E288*			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	294	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGCTTACCCTCTACTAGTGAT	0.418																																																	0													159	136	144					6																	10402728		2203	4300	6503	SO:0001587	stop_gained	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.880G>T	6.37:g.10402728C>A	ENSP00000418541:p.Glu294*		Q13777|Q5TAV5|Q8N1C6	Nonsense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.E294*	ENST00000482890.1	37	c.880	CCDS4510.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.0|21.0|21.0	4.078396|4.078396|4.078396	0.76528|0.76528|0.76528	.|.|.	.|.|.	ENSG00000137203|ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073|ENST00000461628|ENST00000475264	.|.|.	.|.|.	.|.|.	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|.	.|0.75831|.	.|0.3903|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.73177|.	.|-0.4065|.	.|3|.	0.87932|.|.	D|.|.	0|.|.	.|.|.	20.0474|20.0474|20.0474	0.97616|0.97616|0.97616	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|Y	296;294;290;288;294;294|68|198	.|.|.	ENSP00000316516:E290X|.|.	E|R|X	-|-|-	1|2|3	0|0|2	TFAP2A|TFAP2A|TFAP2A	10510714|10510714|10510714	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.981000|0.981000|0.981000	0.71138|0.71138|0.71138	7.814000|7.814000|7.814000	0.86154|0.86154|0.86154	2.722000|2.722000|2.722000	0.93159|0.93159|0.93159	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|AGA|TAG	TFAP2A	-	pfam_TF_AP2_C,prints_TF_AP2_C	ENSG00000137203		0.418	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	-	0	42	0	C	NM_003220		10402728	-1	tier1	-	no_errors	ENST00000379604	ensembl	human	known	74_37	nonsense	43.48	26	20	SNP	1.000	A	A	10402728	C	A	10402728	4	1	50	1	0	0	0	0	0	1	0	0	15834	922	32	3	445	3	TFAP2A	6	10402728	Nonsense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		10402728	160712339	47	11993											
KDM1B	221656	genome.wustl.edu	37	chr6	18215356	18215357	+	Frame_Shift_Ins	INS	-	-	GC																															ctccgggagctgttcaaggaINSgcaggtgagagagaggaagc																										TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr6:18215356_18215357insGC	ENST00000297792.5	+	16	1709_1710	c.1532_1533insGC	c.(1531-1536)gagcagfs	p.Q512fs	KDM1B_ENST00000397244.1_Frame_Shift_Ins_p.Q513fs|KDM1B_ENST00000546309.2_Frame_Shift_Ins_p.Q35fs|KDM1B_ENST00000388870.2_Frame_Shift_Ins_p.Q745fs			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	744					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTGTTCAAGGAGCAGGTGAGAG	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1533_1534dupGC	6.37:g.18215357_18215358dupGC	ENSP00000297792:p.Gln512fs		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Frame_Shift_Ins	INS	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.Q745fs	ENST00000297792.5	37	c.2231_2232	CCDS34343.1	6																																																																																			KDM1B	-	pfam_Amino_oxidase	ENSG00000165097		0.594	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1		0	41	0	-	NM_153042		18215357	1	tier1		no_errors	ENST00000388870	ensembl	human	known	74_37	frame_shift_ins	38.71	19	12	INS	1.000:1.000	GC	GC	18215357	-	GC	18215356	7	5	50	1	0	1	1	0	0	0	0	0	8150	304	11	0	1586	0	KDM1B	6	18215356	Frame_Shift_Ins	INS	-	TCGA-L5-A43H-01A-11D-A247-09	7812628	18215356	152899711	48	11994											
C6orf136	221545	genome.wustl.edu	37	chr6	30615096	30615096	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaggtgagcggaggagaaGagggagggaggagagggggc	11	1	24	5	1	0	4	0	1	0	3	0	9	0	7	1	8	1	0	1	8	1	0	rs551438712		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr6:30615096G>C	ENST00000376473.5	+	1	231				AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Missense_Mutation_p.E30Q|C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000528347.2_5'Flank|C6orf136_ENST00000493705.1_Intron	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CGGAGGAGAAGAGGGAGGGAG	0.736																																																	0																																										SO:0001627	intron_variant	0			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.72+16G>C	6.37:g.30615096G>C			A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	pfam_DUF2358	p.E30Q	ENST00000376473.5	37	c.88	CCDS43443.1	6	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954779	0.34471	.	.	ENSG00000204564	ENST00000293604	.	.	.	4.94	2.15	0.27550	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	0.18873	N	0.999987	B	0.22683	0.073	B	0.23150	0.044	T	0.42616	-0.9441	7	.	.	.	.	8.2587	0.31771	0.2646:0.0:0.7354:0.0	.	30	F8VX15	.	Q	30	.	.	E	+	1	0	C6orf136	30723075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.012000	0.13287	0.506000	0.28125	0.655000	0.94253	GAG	C6orf136	-	NULL	ENSG00000204564		0.736	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf136	HGNC	protein_coding	OTTHUMT00000076457.4	-	0	57	0	G	NM_145029		30615096	1	tier1	-	no_errors	ENST00000293604	ensembl	human	known	74_37	missense	52.50	19	21	SNP	0.000	C	C	30615096	G	C	30615096	1	2	50	0	1	0	0	0	0	0	0	0	2338	943	33	5		5	C6orf136	6	30615096	Intron	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	12399740	30615096	140499971	49	11995											
ENPP5	59084	genome.wustl.edu	37	chr6	46129397	46129397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaaatctgtggagttcatgGcttcttttgagaaattcttt	10	17	8	6	0	4	1	1	1	3	1	4	3	4	2	0	2	0	2	0	2	2	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr6:46129397G>T	ENST00000371383.2	-	5	1360	c.1100C>A	c.(1099-1101)gCc>gAc	p.A367D	ENPP5_ENST00000230565.3_Missense_Mutation_p.A367D					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GGAGTTCATGGCTTCTTTTGA	0.438																																																	0													269	280	276					6																	46129397		2203	4300	6503	SO:0001583	missense	0			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1100C>A	6.37:g.46129397G>T	ENSP00000360436:p.Ala367Asp			Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.A367D	ENST00000371383.2	37	c.1100	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354582	0.41700	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.75367	-0.93;-0.93	5.63	5.63	0.86233	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.329333	0.32736	N	0.005704	T	0.49762	0.1576	L	0.42245	1.32	0.34238	D	0.677273	B	0.16396	0.017	B	0.20184	0.028	T	0.55866	-0.8073	10	0.59425	D	0.04	-3.4327	5.1284	0.14897	0.0781:0.1447:0.6269:0.1503	.	367	Q9UJA9	ENPP5_HUMAN	D	367	ENSP00000360436:A367D;ENSP00000230565:A367D	ENSP00000230565:A367D	A	-	2	0	ENPP5	46237356	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.658000	0.46733	2.656000	0.90262	0.655000	0.94253	GCC	ENPP5	-	superfamily_Alkaline_phosphatase_core	ENSG00000112796		0.438	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2		0	74	0	G			46129397	-1			no_errors	ENST00000230565	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	46129397	G	T	46129397	3	4	50	1	0	0	0	0	1	0	0	0	5149	1203	42	3	337	3	ENPP5	6	46129397	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	15514301	46129397	124985670	50	11996											
LCA5	167691	genome.wustl.edu	37	chr6	80196741	80196741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatctcagtgctacttcttCaatttcatcttctacagaat	10	17	3	11	0	7	1	4	0	4	1	8	1	7	1	0	0	3	1	0	0	4	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr6:80196741C>T	ENST00000392959.1	-	9	2685	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	LCA5_ENST00000369846.4_Missense_Mutation_p.E692K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	692					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTACTTCTTCAATTTCATCT	0.303																																																	0													43	47	46					6																	80196741		2203	4300	6503	SO:0001583	missense	0				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"lebercilin"	611408	"chromosome 6 open reading frame 152"	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.2074G>A	6.37:g.80196741C>T	ENSP00000376686:p.Glu692Lys		E1P542|Q9BWX7	Missense_Mutation	SNP	NULL	p.E692K	ENST00000392959.1	37	c.2074	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564586	0.86439	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.66099	-0.19;-0.19	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	M	0.66939	2.045	0.50467	D	0.999874	D	0.89917	1.0	D	0.87578	0.998	T	0.77143	-0.2696	10	0.87932	D	0	-23.0548	18.5368	0.91013	0.0:1.0:0.0:0.0	.	692	Q86VQ0	LCA5_HUMAN	K	692	ENSP00000358861:E692K;ENSP00000376686:E692K	ENSP00000358861:E692K	E	-	1	0	LCA5	80253460	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.677000	0.68142	2.609000	0.88269	0.591000	0.81541	GAA	LCA5	-	NULL	ENSG00000135338		0.303	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	-	0	57	0	C	NM_181714		80196741	-1	tier1	-	no_errors	ENST00000369846	ensembl	human	known	74_37	missense	40.00	36	24	SNP	1.000	T	T	80196741	C	T	80196741	3	4	50	1	0	0	0	0	1	0	0	0	8684	835	29	3	23	3	LCA5	6	80196741	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	34067344	80196741	90918326	51	11997											
IQCE	23288	genome.wustl.edu	37	chr7	2645633	2645633	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccgggccaggcacaggTgagtcagggtcacggggacg	7	4	19	11	3	2	1	2	1	0	0	2	2	2	2	2	7	0	1	2	7	0	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:2645633T>C	ENST00000402050.2	+	20	2049		c.e20+2		IQCE_ENST00000438376.2_Splice_Site|IQCE_ENST00000325979.7_Splice_Site|IQCE_ENST00000404984.1_Splice_Site	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E							mitochondrion (GO:0005739)		p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CAGGCACAGGTGAGTCAGGGT	0.697																																																	1	Unknown(1)	kidney(1)											27	33	31					7																	2645633		2119	4241	6360	SO:0001630	splice_region_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1865+2T>C	7.37:g.2645633T>C			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Splice_Site	SNP	-	e20+2	ENST00000402050.2	37	c.1865+2	CCDS43542.1	7	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354582	0.41700	.	.	ENSG00000106012	ENST00000402050;ENST00000404984;ENST00000438376;ENST00000325979;ENST00000423196	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5193	0.44910	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCE	2612159	1.000000	0.71417	0.822000	0.32727	0.440000	0.31957	3.588000	0.53964	1.805000	0.52779	0.459000	0.35465	.	IQCE	-	-	ENSG00000106012		0.697	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0	143	0	T	NM_152558	Intron	2645633	1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	splice_site	13.89	93	15	SNP	0.672	C	C	2645633	T	C	2645633	5	2	50	1	0	0	0	0	0	0	1	0	7833	1710	59	4	1945	4	IQCE	7	2645633	Splice_Site	SNP	T	TCGA-L5-A43H-01A-11D-A247-09		2645633	156493030	52	11998											
RADIL	55698	genome.wustl.edu	37	chr7	4917679	4917679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtacttgtagctcagcGtccgggacagcatgctggac	7	8	13	13	3	1	0	1	0	0	0	2	2	2	2	2	3	5	5	2	3	2	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:4917679G>A	ENST00000399583.3	-	2	279	c.92C>T	c.(91-93)aCg>aTg	p.T31M	RADIL_ENST00000536091.1_Missense_Mutation_p.T31M	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	31					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)		p.T31M(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GTAGCTCAGCGTCCGGGACAG	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											22	26	25					7																	4917679		2074	4203	6277	SO:0001583	missense	0			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.92C>T	7.37:g.4917679G>A	ENSP00000382492:p.Thr31Met		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.T31M	ENST00000399583.3	37	c.92	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109413	0.56398	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	T;T	0.29397	2.96;1.57	5.84	4.97	0.65823	.	0.072733	0.64402	D	0.000011	T	0.50394	0.1613	M	0.61703	1.905	0.39690	D	0.971032	D	0.89917	1.0	D	0.68621	0.959	T	0.56080	-0.8038	10	0.87932	D	0	-25.5285	12.316	0.54958	0.0777:0.0:0.9223:0.0	.	31	Q96JH8	RADIL_HUMAN	M	31;5;31;31	ENSP00000382492:T31M;ENSP00000442533:T31M	ENSP00000320946:T5M	T	-	2	0	RADIL	4884205	1.000000	0.71417	0.968000	0.41197	0.356000	0.29392	5.937000	0.70162	1.487000	0.48415	0.561000	0.74099	ACG	RADIL	-	NULL	ENSG00000157927		0.627	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	-	0	51	0	G	NM_018059		4917679	-1	tier1	-	no_errors	ENST00000399583	ensembl	human	known	74_37	missense	26.32	27	10	SNP	0.965	A	A	4917679	G	A	4917679	3	1	50	1	0	0	0	0	1	0	0	0	13042	1145	40	1	3191	1	RADIL	7	4917679	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	2272046	4917679	154220984	53	11999											
ANKMY2	57037	genome.wustl.edu	37	chr7	16655488	16655488	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaataatccagtctctctcGaggaaagaaattgttgatta	14	13	8	6	1	2	2	0	1	2	1	5	4	3	3	1	1	0	2	1	1	5	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:16655488G>A	ENST00000306999.2	-	5	655	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	138						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGTCTCTCTCGAGGAAAGAAA	0.388																																																	0													87	85	85					7																	16655488		2203	4300	6503	SO:0001587	stop_gained	0			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.412C>T	7.37:g.16655488G>A	ENSP00000303570:p.Arg138*		A4D124|Q659G1|Q96BL3	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.R138*	ENST00000306999.2	37	c.412	CCDS5361.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.630127	0.98399	.	.	ENSG00000106524	ENST00000306999	.	.	.	5.85	5.85	0.93711	.	0.055252	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8287	20.5471	0.99284	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000303570:R138X	R	-	1	2	ANKMY2	16622013	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.452000	0.80683	2.941000	0.99782	0.655000	0.94253	CGA	ANKMY2	-	smart_Ankyrin_rpt	ENSG00000106524		0.388	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKMY2	HGNC	protein_coding	OTTHUMT00000207600.2	-	0	30	0	G	NM_020319		16655488	-1	tier1	-	no_errors	ENST00000306999	ensembl	human	known	74_37	nonsense	44.44	20	16	SNP	1.000	A	A	16655488	G	A	16655488	4	1	50	1	0	0	0	0	0	1	0	0	635	1066	37	1	937	1	ANKMY2	7	16655488	Nonsense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	11737809	16655488	142483175	54	12000											
SNX13	23161	genome.wustl.edu	37	chr7	17833695	17833695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgcaaagaaggcgcttGagtagtttgaagtttctgtt	9	16	11	5	1	2	3	0	2	2	1	2	3	2	3	0	1	1	6	0	1	4	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:17833695G>C	ENST00000428135.3	-	26	3046	c.2848C>G	c.(2848-2850)Caa>Gaa	p.Q950E	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000409389.1_3'UTR	NM_015132.4	NP_055947.1	Q9Y5W8	SNX13_HUMAN	sorting nexin 13	961					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GAAGGCGCTTGAGTAGTTTGA	0.403																																																	0													120	114	116					7																	17833695		1850	4097	5947	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000428135.3:c.2848C>G	7.37:g.17833695G>C	ENSP00000398789:p.Gln950Glu		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.Q950E	ENST00000428135.3	37	c.2848	CCDS47551.1	7	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494289	0.44352	.	.	ENSG00000071189	ENST00000428135;ENST00000242044	T	0.13657	2.57	5.67	5.67	0.87782	.	0.171581	0.52532	D	0.000072	T	0.11281	0.0275	N	0.14661	0.345	0.80722	D	1	B;B	0.16802	0.019;0.003	B;B	0.15870	0.01;0.014	T	0.16630	-1.0396	10	0.40728	T	0.16	-12.635	20.1169	0.97940	0.0:0.0:1.0:0.0	.	747;950	B3KN60;Q9Y5W8-2	.;.	E	950;998	ENSP00000398789:Q950E	ENSP00000242044:Q998E	Q	-	1	0	SNX13	17800220	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.017000	0.76399	2.835000	0.97688	0.591000	0.81541	CAA	SNX13	-	NULL	ENSG00000071189		0.403	SNX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327607.2	-	0	47	0	G	NM_015132		17833695	-1	tier1	-	no_errors	ENST00000428135	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	C	C	17833695	G	C	17833695	3	2	50	1	0	0	0	0	1	0	0	0	14929	1299	45	5	29	5	SNX13	7	17833695	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	1178207	17833695	141304968	55	12001											
ABCA13	154664	genome.wustl.edu	37	chr7	48315394	48315394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtttagaagcattatcaaGttttattgaaaaaagtgaaa	18	13	7	3	0	1	3	1	2	0	1	1	3	1	3	0	0	1	3	0	0	9	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:48315394G>T	ENST00000435803.1	+	17	6155	c.6131G>T	c.(6130-6132)aGt>aTt	p.S2044I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2044					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S2044I(1)|p.S1989I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATTATCAAGTTTTATTGAA	0.358																																																	2	Substitution - Missense(2)	large_intestine(2)											32	30	31					7																	48315394		1829	4082	5911	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6131G>T	7.37:g.48315394G>T	ENSP00000411096:p.Ser2044Ile		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2044I	ENST00000435803.1	37	c.6131	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794944	0.16327	.	.	ENSG00000179869	ENST00000435803	T	0.15603	2.41	4.65	-2.5	0.06384	.	0.883493	0.09483	N	0.796038	T	0.12263	0.0298	L	0.44542	1.39	0.09310	N	1	B	0.22003	0.063	B	0.21360	0.034	T	0.36089	-0.9762	9	.	.	.	.	6.2943	0.21077	0.4705:0.2465:0.283:0.0	.	2044	Q86UQ4	ABCAD_HUMAN	I	2044	ENSP00000411096:S2044I	.	S	+	2	0	ABCA13	48285940	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	-0.664000	0.05292	-0.586000	0.05898	-2.630000	0.00154	AGT	ABCA13	-	NULL	ENSG00000179869		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2		0	15	0	G	NM_152701		48315394	1			no_errors	ENST00000435803	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.000	T	T	48315394	G	T	48315394	3	4	50	1	0	0	0	0	1	0	0	0	31	1029	36	3	6026	3	ABCA13	7	48315394	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	30481699	48315394	110823269	56	12002											
SEMA3A	10371	genome.wustl.edu	37	chr7	83675741	83675741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccataaaatcagctgcagttCcagagtataattctccatct	13	12	5	11	0	3	1	1	0	2	1	5	1	4	1	3	0	2	4	3	0	4	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:83675741C>A	ENST00000265362.4	-	6	880	c.566G>T	c.(565-567)gGa>gTa	p.G189V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G189V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	189	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGCTGCAGTTCCAGAGTATAA	0.408																																																	0													181	165	170					7																	83675741		2203	4300	6503	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.566G>T	7.37:g.83675741C>A	ENSP00000265362:p.Gly189Val			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.G189V	ENST00000265362.4	37	c.566	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832074	0.91036	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.18016	2.24;2.24	5.88	5.88	0.94601	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64774	-0.6328	10	0.87932	D	0	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	189	Q14563	SEM3A_HUMAN	V	189	ENSP00000265362:G189V;ENSP00000415260:G189V	ENSP00000265362:G189V	G	-	2	0	SEMA3A	83513677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.433000	0.80362	2.779000	0.95612	0.650000	0.86243	GGA	SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.408	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	29	0	C	NM_006080		83675741	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	A	A	83675741	C	A	83675741	3	1	50	1	0	0	0	0	1	0	0	0	14069	855	30	3	1797	3	SEMA3A	7	83675741	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	35360347	83675741	75462922	57	12003											
FZD1	8321	genome.wustl.edu	37	chr7	90895458	90895459	+	Frame_Shift_Ins	INS	-	-	A																															ccagctccatctggtgggtgINSatcctgtcgctcacctggtt																										TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:90895458_90895459insA	ENST00000287934.2	+	1	1676_1677	c.1263_1264insA	c.(1264-1266)atcfs	p.I422fs		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	422					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TCTGGTGGGTGATCCTGTCGCT	0.614																																																	0																																										SO:0001589	frameshift_variant	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1264dupA	7.37:g.90895459_90895459dupA	ENSP00000287934:p.Ile422fs		A4D1E8|O94815|Q549T8	Frame_Shift_Ins	INS	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.I421fs	ENST00000287934.2	37	c.1263_1264	CCDS5620.1	7																																																																																			FZD1	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000157240		0.614	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2		0	82	0	-	NM_003505		90895459	1	tier1		no_errors	ENST00000287934	ensembl	human	known	74_37	frame_shift_ins	31.75	43	20	INS	1.000:1.000	A	A	90895459	-	A	90895458	7	5	50	1	0	1	1	0	0	0	0	0	6152	1277	45	0	1265	0	FZD1	7	90895458	Frame_Shift_Ins	INS	-	TCGA-L5-A43H-01A-11D-A247-09	7219717	90895458	68243205	58	12004											
EMID2	136227	genome.wustl.edu	37	chr7	101063356	101063356	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagagctgccggtggcCggggccctgcgccaacctcg	5	5	15	16	4	0	1	0	0	0	1	1	1	0	1	6	4	5	2	6	4	2	1	rs79106047	byFrequency	TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr7:101063356C>T	ENST00000397927.3	+	0	470				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											TGCCGGTGGCCGGGGCCCTGC	0.647													C|||	13	0.00259585	0	0.0014	5008	,	,		16743	0		0.004	False		,,,				2504	0.0082																0								C	LEU/PRO	1,4031		0,1,2015	30	40	36		257	4.9	1	7	dbSNP_131	36	21,8301		0,21,4140	yes	missense	EMID2	NM_133457.2	98	0,22,6155	TT,TC,CC		0.2523,0.0248,0.1781	probably-damaging	86/440	101063356	22,12332	2016	4161	6177			0			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101063356C>T			Q32M90	Missense_Mutation	SNP	pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain	p.P86L	ENST00000397927.3	37	c.257		7	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	29.2	4.983927	0.93044	2.48E-4	0.002523	ENSG00000160963	ENST00000313669	T	0.46451	0.87	4.95	4.95	0.65309	EMI domain (2);	0.000000	0.36893	U	0.002352	T	0.62913	0.2467	M	0.66939	2.045	0.46954	D	0.999269	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.66968	-0.5789	10	0.87932	D	0	.	15.7219	0.77718	0.0:1.0:0.0:0.0	.	86;86	Q96A83;C9JPW4	EMID2_HUMAN;.	L	86	ENSP00000318234:P86L	ENSP00000318234:P86L	P	+	2	0	EMID2	100850076	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.166000	0.77553	2.310000	0.77875	0.558000	0.71614	CCG	COL26A1	-	pfam_EMI_domain,pfscan_EMI_domain	ENSG00000160963		0.647	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	COL26A1	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2		0	34	0	C	NM_133457		101063356	1			no_errors	ENST00000313669	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	101063356	C	T	101063356	1	4	50	0	1	0	0	0	0	0	0	0	5108	652	23	1		1	EMID2	7	101063356	RNA	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	10167898	101063356	58075307	59	12005											
CSMD1	64478	genome.wustl.edu	37	chr8	3015451	3015451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacggatagttccaacggCgaacggtccctggcatacag	11	6	13	11	4	0	1	0	0	0	1	2	4	2	2	2	4	3	2	2	4	4	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr8:3015451C>A	ENST00000520002.1	-	40	6440	c.5885G>T	c.(5884-5886)cGc>cTc	p.R1962L	CSMD1_ENST00000537824.1_Missense_Mutation_p.R1961L|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1962L|CSMD1_ENST00000400186.3_Missense_Mutation_p.R1962L|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1961L|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1962L|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1961L|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1962	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTCCAACGGCGAACGGTCCC	0.443																																																	0													53	51	52					8																	3015451		1957	4100	6057	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5885G>T	8.37:g.3015451C>A	ENSP00000430733:p.Arg1962Leu		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R1962L	ENST00000520002.1	37	c.5885		8	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203513	0.58234	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.45	4.58	0.56647	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.78027	0.4219	M	0.75085	2.285	0.53688	D	0.999975	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.97110	0.996;1.0;0.998;0.983	T	0.80674	-0.1277	10	0.72032	D	0.01	.	13.7826	0.63091	0.0:0.9253:0.0:0.0747	.	1962;1962;1961;1962	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	L	1962;1962;1823;1961;1961;1961	ENSP00000383047:R1962L;ENSP00000430733:R1962L;ENSP00000441462:R1961L;ENSP00000446243:R1961L;ENSP00000441675:R1961L	ENSP00000320445:R1823L	R	-	2	0	CSMD1	3002858	1.000000	0.71417	0.031000	0.17742	0.023000	0.10783	7.311000	0.78958	1.289000	0.44618	0.655000	0.94253	CGC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	21	0	C	NM_033225		3015451	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.938	A	A	3015451	C	A	3015451	3	1	50	1	0	0	0	0	1	0	0	0	3953	768	27	2	4940	2	CSMD1	8	3015451	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		3015451	143348571	60	12006											
SGK223	157285	genome.wustl.edu	37	chr8	8185259	8185259	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgccggggtcctcagaGcaggtggcacagtaataaat	10	8	14	9	1	1	1	1	0	0	1	2	1	2	1	2	4	3	4	2	4	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr8:8185259G>T	ENST00000520004.1	-	5	3297	c.3033C>A	c.(3031-3033)tgC>tgA	p.C1011*	SGK223_ENST00000330777.4_Nonsense_Mutation_p.C1011*			Q86YV5	SG223_HUMAN		1013	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGTCCTCAGAGCAGGTGGCAC	0.547																																					GBM(34;731 755 10259 33573 33867)												0													50	54	53					8																	8185259		2098	4228	6326	SO:0001587	stop_gained	0																														ENST00000520004.1:c.3033C>A	8.37:g.8185259G>T	ENSP00000428054:p.Cys1011*		Q8N3N5	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.C1011*	ENST00000520004.1	37	c.3033	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	43	10.047602	0.99325	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4447	0.87574	0.0:0.0:1.0:0.0	.	.	.	.	X	1011	.	ENSP00000330930:C1011X	C	-	3	2	AC068353.1	8222669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.910000	0.39927	2.670000	0.90874	0.563000	0.77884	TGC	SGK223	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000182319		0.547	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1	-	0	49	0	G			8185259	-1	tier1	-	no_errors	ENST00000330777	ensembl	human	known	74_37	nonsense	21.62	29	8	SNP	1.000	T	T	8185259	G	T	8185259	4	4	50	1	0	0	0	0	0	1	0	0	14255	963	34	3	1183	3	SGK223	8	8185259	Nonsense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	5169808	8185259	138178763	61	12007											
FUT10	84750	genome.wustl.edu	37	chr8	33318933	33318933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggctgtgacgcacaggCaagatgccaaaagcttcctc	10	7	12	12	2	0	2	0	1	0	1	2	2	1	2	2	3	2	4	2	3	3	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr8:33318933C>T	ENST00000327671.5	-	2	669	c.38G>A	c.(37-39)tGc>tAc	p.C13Y	FUT10_ENST00000518672.1_Intron|FUT10_ENST00000524021.1_5'UTR|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	13					embryo development (GO:0009790)|fertilization (GO:0009566)|fucosylation (GO:0036065)|hemopoiesis (GO:0030097)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein folding (GO:0006457)|protein glycosylation (GO:0006486)|protein targeting (GO:0006605)|wound healing (GO:0042060)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GACGCACAGGCAAGATGCCAA	0.557																																																	0													199	142	161					8																	33318933		2203	4300	6503	SO:0001583	missense	0			AJ512465	CCDS6088.1	8p12	2013-02-26			ENSG00000172728	ENSG00000172728		"Fucosyltransferases"	19234	protein-coding gene	gene with protein product							Standard	NM_032664		Approved		uc003xje.3	Q6P4F1	OTTHUMG00000163954	ENST00000327671.5:c.38G>A	8.37:g.33318933C>T	ENSP00000332757:p.Cys13Tyr		A8KAC8|Q70GG3|Q8IVI6|Q8IVI7|Q8IVJ3|Q8TE43|Q9BSR3	Missense_Mutation	SNP	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	p.C13Y	ENST00000327671.5	37	c.38	CCDS6088.1	8	.	.	.	.	.	.	.	.	.	.	C	19.05	3.750931	0.69533	.	.	ENSG00000172728	ENST00000327671;ENST00000380081	T	0.23147	1.92	5.79	4.89	0.63831	.	2.451770	0.01201	N	0.007599	T	0.44726	0.1307	M	0.69823	2.125	0.80722	D	1	P;P;P	0.46277	0.875;0.785;0.82	B;B;P	0.48425	0.274;0.441;0.577	T	0.35425	-0.9789	10	0.51188	T	0.08	0.1845	12.413	0.55478	0.1664:0.8336:0.0:0.0	.	13;13;13	B4DLS4;Q6P4F1-5;Q6P4F1	.;.;FUT10_HUMAN	Y	13	ENSP00000332757:C13Y	ENSP00000332757:C13Y	C	-	2	0	FUT10	33438475	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.515000	0.35845	2.771000	0.95319	0.644000	0.83932	TGC	FUT10	-	pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met	ENSG00000172728		0.557	FUT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT10	HGNC	protein_coding	OTTHUMT00000376540.1		0	23	0	C	NM_032664		33318933	-1			no_errors	ENST00000327671	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	33318933	C	T	33318933	3	4	50	1	0	0	0	0	1	0	0	0	6126	710	25	3	1417	3	FUT10	8	33318933	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	25133674	33318933	113045089	62	12008											
OTUD6B	51633	genome.wustl.edu	37	chr8	92090650	92090650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctgaaattgaaaacttaAcaggagccagacatatggaa	19	7	9	6	0	0	3	0	2	0	1	0	5	0	5	1	2	4	1	1	2	7	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr8:92090650A>G	ENST00000285420.4	+	4	571	c.472A>G	c.(472-474)Aca>Gca	p.T158A	OTUD6B_ENST00000404789.3_Missense_Mutation_p.T27A	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	128	Cys-loop. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.						cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TGAAAACTTAACAGGAGCCAG	0.373																																																	0													48	49	48					8																	92090650		2202	4296	6498	SO:0001583	missense	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.472A>G	8.37:g.92090650A>G	ENSP00000285420:p.Thr158Ala		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.T158A	ENST00000285420.4	37	c.472	CCDS6253.2	8	.	.	.	.	.	.	.	.	.	.	A	3.447	-0.112870	0.06881	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	T;T	0.43294	0.95;0.97	6.06	-5.61	0.02489	.	0.564000	0.21484	N	0.073782	T	0.20292	0.0488	L	0.28274	0.84	0.20489	N	0.999895	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.39210	-0.9625	10	0.02654	T	1	-6.066	12.6524	0.56768	0.6977:0.0:0.0812:0.2212	.	27;128	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	A	158;27	ENSP00000285420:T158A;ENSP00000384190:T27A	ENSP00000285420:T158A	T	+	1	0	OTUD6B	92159826	0.964000	0.33143	0.569000	0.28460	0.917000	0.54804	0.097000	0.15168	-1.280000	0.02402	-1.329000	0.01275	ACA	OTUD6B	-	NULL	ENSG00000155100		0.373	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	-	0	37	0	A	NM_016023		92090650	1	tier1	-	no_errors	ENST00000285420	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.575	G	G	92090650	A	G	92090650	3	3	50	1	0	0	0	0	1	0	0	0	11356	43	2	4	486	4	OTUD6B	8	92090650	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	58771717	92090650	54273372	63	12009											
LAPTM4B	55353	genome.wustl.edu	37	chr8	98837299	98837299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagggttacttgattaGctgtgtttggaactgctacc	7	17	10	7	0	1	1	1	1	0	0	1	2	1	2	1	2	5	4	1	2	4	7			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr8:98837299G>A	ENST00000521545.2	+	6	755	c.521G>A	c.(520-522)aGc>aAc	p.S174N	LAPTM4B_ENST00000445593.2_Missense_Mutation_p.S265N			Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	318					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TACTTGATTAGCTGTGTTTGG	0.368																																																	0													199	169	179					8																	98837299		2203	4300	6503	SO:0001583	missense	0			AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000521545.2:c.521G>A	8.37:g.98837299G>A	ENSP00000428409:p.Ser174Asn		Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	pfam_LAPTM4/5	p.S265N	ENST00000521545.2	37	c.794		8	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072308	0.36566	.	.	ENSG00000104341	ENST00000445593;ENST00000378722;ENST00000521545	T;T	0.38887	1.11;1.11	5.28	5.28	0.74379	.	0.204004	0.52532	D	0.000069	T	0.47801	0.1465	L	0.32530	0.975	0.32065	N	0.595178	D	0.58970	0.984	P	0.57846	0.828	T	0.50759	-0.8790	10	0.27082	T	0.32	-30.3508	15.8482	0.78907	0.0:0.0:1.0:0.0	.	318	Q86VI4	LAP4B_HUMAN	N	265;311;174	ENSP00000402301:S265N;ENSP00000428409:S174N	ENSP00000367995:S311N	S	+	2	0	LAPTM4B	98906475	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.999000	0.49473	2.463000	0.83235	0.650000	0.86243	AGC	LAPTM4B	-	pfam_LAPTM4/5	ENSG00000104341		0.368	LAPTM4B-002	KNOWN	basic|appris_principal	protein_coding	LAPTM4B	HGNC	protein_coding	OTTHUMT00000380016.2	-	0	55	0	G			98837299	1	tier1	-	no_errors	ENST00000445593	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	A	A	98837299	G	A	98837299	3	1	50	1	0	0	0	0	1	0	0	0	8653	971	34	3	816	3	LAPTM4B	8	98837299	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	6746649	98837299	47526723	64	12010											
DCAF13	25879	genome.wustl.edu	37	chr8	104438329	104438329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaaatggatgggccaGgctatggagacgaggaagag	14	5	18	4	1	0	2	0	0	0	2	0	7	0	5	1	6	0	1	1	6	4	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr8:104438329G>T	ENST00000297579.5	+	4	1157	c.880G>T	c.(880-882)Ggc>Tgc	p.G294C	DCAF13_ENST00000521971.1_Missense_Mutation_p.G102C|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_Missense_Mutation_p.G138C	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	142					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGATGGGCCAGGCTATGGAGA	0.318																																																	0													75	78	77					8																	104438329		2203	4300	6503	SO:0001583	missense	0			AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24535	protein-coding gene	gene with protein product			"WD repeats and SOF1 domain containing"	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000297579.5:c.880G>T	8.37:g.104438329G>T	ENSP00000297579:p.Gly294Cys		Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Missense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G294C	ENST00000297579.5	37	c.880	CCDS34934.1	8	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310056	0.60414	.	.	ENSG00000164934	ENST00000297579;ENST00000521971;ENST00000519682	T;T;T	0.01446	4.88;4.88;4.88	5.75	0.66	0.17868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.356607	0.35436	N	0.003201	T	0.03390	0.0098	M	0.74258	2.255	0.44562	D	0.997524	P;B	0.46706	0.883;0.384	B;B	0.42692	0.395;0.345	T	0.45614	-0.9249	10	0.66056	D	0.02	-2.2955	10.2066	0.43116	0.3372:0.0:0.6628:0.0	.	142;142	B3KME9;Q9NV06	.;DCA13_HUMAN	C	294;102;138	ENSP00000297579:G294C;ENSP00000430883:G102C;ENSP00000430411:G138C	ENSP00000297579:G294C	G	+	1	0	DCAF13	104507505	0.223000	0.23663	0.598000	0.28837	0.841000	0.47740	1.833000	0.39161	-0.167000	0.10871	0.655000	0.94253	GGC	DCAF13	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000164934		0.318	DCAF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380797.2		0	25	0	G	NM_015420		104438329	1			no_errors	ENST00000297579	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.783	T	T	104438329	G	T	104438329	3	4	50	1	0	0	0	0	1	0	0	0	4275	1000	35	3	894	3	DCAF13	8	104438329	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	5601030	104438329	41925693	65	12011											
GPR172A	79581	genome.wustl.edu	37	chr8	145584272	145584272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcagggctgggcggcCtctctctgctgggcgtgttc	1	11	16	13	2	2	0	0	0	2	0	4	0	2	0	2	5	1	4	2	5	0	2	rs531845498	byFrequency	TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr8:145584272C>T	ENST00000532887.1	+	4	1607	c.1024C>T	c.(1024-1026)Ctc>Ttc	p.L342F	SLC52A2_ENST00000402965.1_Missense_Mutation_p.L342F|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000329994.2_Missense_Mutation_p.L342F|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.L254F|SLC52A2_ENST00000527078.1_Missense_Mutation_p.L342F|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.L342F			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	342					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GCTGGGCGGCCTCTCTCTGCT	0.701													C|||	2	0.000399361	0.0015	0	5008	,	,		15343	0		0	False		,,,				2504	0																0													54	61	59					8																	145584272		2203	4300	6503	SO:0001583	missense	0			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1024C>T	8.37:g.145584272C>T	ENSP00000436768:p.Leu342Phe		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	pfam_Endogenous_retrovirus_rcpt	p.L342F	ENST00000532887.1	37	c.1024	CCDS6423.1	8	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887306	0.33348	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	4.69	1.7	0.24286	.	0.266289	0.30483	N	0.009539	T	0.76026	0.3930	L	0.59436	1.845	0.19575	N	0.999961	P	0.37370	0.592	P	0.44447	0.45	T	0.65985	-0.6035	10	0.46703	T	0.11	.	3.1388	0.06448	0.1886:0.5074:0.0:0.304	.	342	Q9HAB3	RFT3_HUMAN	F	342;342;342;342;342;254	ENSP00000435820:L342F;ENSP00000434728:L342F;ENSP00000385961:L342F;ENSP00000436768:L342F;ENSP00000333638:L342F;ENSP00000440400:L254F	ENSP00000333638:L342F	L	+	1	0	GPR172A	145555080	0.001000	0.12720	0.003000	0.11579	0.317000	0.28152	-0.159000	0.10056	0.414000	0.25790	0.462000	0.41574	CTC	SLC52A2	-	pfam_Endogenous_retrovirus_rcpt	ENSG00000185803		0.701	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC52A2	HGNC	protein_coding	OTTHUMT00000382405.1	-	0	44	0	C	NM_024531		145584272	1	tier1	-	no_errors	ENST00000329994	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.003	T	T	145584272	C	T	145584272	3	4	50	1	0	0	0	0	1	0	0	0	6695	681	24	3	1034	3	GPR172A	8	145584272	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	41145943	145584272	779750	66	12012											
FOXD4L5	653427	genome.wustl.edu	37	chr9	70177178	70177178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccgagagcagtaggtagCgaagaggatgcgggtgcagc	10	4	20	7	3	0	2	0	0	0	2	0	5	0	3	1	4	5	4	1	4	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr9:70177178C>T	ENST00000377420.1	-	1	1637	c.806G>A	c.(805-807)cGc>cAc	p.R269H		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	269					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						CAGTAGGTAGCGAAGAGGATG	0.711																																																	0													1	2	2					9																	70177178		129	489	618	SO:0001583	missense	0				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.806G>A	9.37:g.70177178C>T	ENSP00000366637:p.Arg269His			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R269H	ENST00000377420.1	37	c.806	CCDS47977.1	9	.	.	.	.	.	.	.	.	.	.	c	15.32	2.800106	0.50208	.	.	ENSG00000204779	ENST00000377420	D	0.94280	-3.39	1.07	1.07	0.20283	.	0.187499	0.25475	U	0.030414	D	0.91841	0.7418	L	0.36672	1.1	0.23943	N	0.9964	D	0.65815	0.995	P	0.58520	0.84	D	0.84445	0.0585	10	0.59425	D	0.04	.	7.6881	0.28552	0.0:1.0:0.0:0.0	.	269	Q5VV16	FX4L5_HUMAN	H	269	ENSP00000366637:R269H	ENSP00000366637:R269H	R	-	2	0	FOXD4L5	69466998	0.000000	0.05858	0.869000	0.34112	0.265000	0.26407	-0.814000	0.04486	0.534000	0.28695	0.074000	0.15403	CGC	FOXD4L5	-	NULL	ENSG00000204779		0.711	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	HGNC	protein_coding	OTTHUMT00000037122.1	-	0	81	0	C	NM_001126334		70177178	-1	tier1	-	no_errors	ENST00000377420	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.974	T	T	70177178	C	T	70177178	3	4	50	1	0	0	0	0	1	0	0	0	6026	768	27	1	448	1	FOXD4L5	9	70177178	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		70177178	71036253	67	12013											
TRPM6	140803	genome.wustl.edu	37	chr9	77377816	77377816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctagaacctctgcacaGatgacattgctccagctgtg	9	10	9	13	0	1	3	0	1	1	2	2	3	2	3	3	0	5	3	3	0	2	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr9:77377816G>A	ENST00000360774.1	-	26	4008	c.3771C>T	c.(3769-3771)atC>atT	p.I1257I	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.I1252I|TRPM6_ENST00000449912.2_Silent_p.I1252I|TRPM6_ENST00000376864.4_Silent_p.I1257I|TRPM6_ENST00000451710.3_Silent_p.I1257I|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1257					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCTCTGCACAGATGACATTGC	0.507																																																	0													105	108	107					9																	77377816		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3771C>T	9.37:g.77377816G>A			Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.I1257	ENST00000360774.1	37	c.3771	CCDS6647.1	9																																																																																			TRPM6	-	NULL	ENSG00000119121		0.507	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	-	0	42	0	G	NM_017662		77377816	-1	tier1	-	no_errors	ENST00000451710	ensembl	human	known	74_37	silent	37.50	20	12	SNP	0.024	A	A	77377816	G	A	77377816	2	1	50	1	0	0	0	0	0	0	0	1	16638	932	33	3		3	TRPM6	9	77377816	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	7200638	77377816	63835615	68	12014											
C9orf86	55684	genome.wustl.edu	37	chr9	139733890	139733891	+	Frame_Shift_Ins	INS	-	-	T																															aaatgctgtccttcgtcatgINSgatgaccccgactttgagag																										TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr9:139733890_139733891insT	ENST00000311502.7	+	12	1946_1947	c.1710_1711insT	c.(1711-1713)gatfs	p.D571fs	RABL6_ENST00000371675.3_Frame_Shift_Ins_p.D456fs|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Frame_Shift_Ins_p.D572fs			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6	571					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										CCTTCGTCATGGATGACCCCGA	0.653																																																	0																																										SO:0001589	frameshift_variant	0			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"Rab-like protein 1", "partner of ARF"	610615	"chromosome 9 open reading frame 86"	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	Exception_encountered	9.37:g.139733890_139733891insT	ENSP00000311134:p.Asp571fs		A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Frame_Shift_Ins	INS	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.D571fs	ENST00000311502.7	37	c.1713_1714	CCDS48058.1	9																																																																																			RABL6	-	NULL	ENSG00000196642		0.653	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4		0	105	0	-	NM_024718		139733891	1	tier1		no_errors	ENST00000371663	ensembl	human	known	74_37	frame_shift_ins	15.69	43	8	INS	1.000:1.000	T	T	139733891	-	T	139733890	7	5	50	1	0	1	1	0	0	0	0	0	2509	1348	47	0	2003	0	C9orf86	9	139733890	Frame_Shift_Ins	INS	-	TCGA-L5-A43H-01A-11D-A247-09	62356074	139733890	1479541	69	12015											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14995953	14995953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcaggttctccctatcGaagcggtctatggagatagt	8	11	11	11	2	3	1	1	0	2	1	5	3	3	1	2	3	1	1	2	3	4	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:14995953G>A	ENST00000378278.2	-	1	94	c.57C>T	c.(55-57)ttC>ttT	p.F19F	DCLRE1C_ENST00000378289.4_Silent_p.F19F|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000378246.2_5'UTR|DCLRE1C_ENST00000357717.2_5'UTR|DCLRE1C_ENST00000453695.2_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378249.1_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	19					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCTCCCTATCGAAGCGGTCTA	0.642								Non-homologous end-joining																																									0													67	71	69					10																	14995953		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.57C>T	10.37:g.14995953G>A			D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Silent	SNP	pfam_DRMBL	p.F19	ENST00000378278.2	37	c.57	CCDS31149.1	10																																																																																			DCLRE1C	-	NULL	ENSG00000152457		0.642	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	147	0	G	NM_022487		14995953	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	silent	5.62	84	5	SNP	1.000	A	A	14995953	G	A	14995953	2	1	50	1	0	0	0	0	0	0	0	1	4305	1049	37	1		1	DCLRE1C	10	14995953	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09		14995953	120538794	70	12016											
DNAJC1	64215	genome.wustl.edu	37	chr10	22209877	22209877	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctggaagtccattgatCagaatatcatcatacctaca	15	11	5	10	0	4	2	3	1	1	1	5	3	5	3	2	1	2	0	2	1	6	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:22209877C>A	ENST00000376980.3	-	4	677	c.387G>T	c.(385-387)ctG>ctT	p.L129L	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	129	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L129L(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GTCCATTGATCAGAATATCAT	0.353																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											74	76	75					10																	22209877		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.387G>T	10.37:g.22209877C>A			B0YIZ8|Q5VX89|Q9H6B8	Silent	SNP	pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L129	ENST00000376980.3	37	c.387	CCDS7136.1	10																																																																																			DNAJC1	-	superfamily_DnaJ_domain,pfscan_DnaJ_domain	ENSG00000136770		0.353	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1		0	35	0	C	NM_022365		22209877	-1			no_errors	ENST00000376980	ensembl	human	known	74_37	silent	6.90	27	2	SNP	1.000	A	A	22209877	C	A	22209877	2	1	50	1	0	0	0	0	0	0	0	1	4642	813	29	3		3	DNAJC1	10	22209877	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	7213924	22209877	113324870	71	12017											
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	8	15	15	3	0	2	4	0	3	2	1	2	6	2	5	0	3	0	2	0	3	1	4	rs79064394		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																																	5	Substitution - Missense(5)	endometrium(4)|kidney(1)											223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.L362F	ENST00000374466.3	37	c.1086	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1		0	88	0	G	NM_018590		43659419	1			no_errors	ENST00000374466	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	43659419	G	T	43659419	3	4	50	1	0	0	0	0	1	0	0	0	3948	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	21449542	43659419	91875328	72	12018											
SYNPO2L	79933	genome.wustl.edu	37	chr10	75413174	75413174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggcacccggaggggtGggccttgtggggcctcggcg	2	6	23	10	3	0	0	0	0	0	0	1	1	0	1	3	10	0	1	3	10	0	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:75413174G>A	ENST00000394810.2	-	3	644	c.495C>T	c.(493-495)ccC>ccT	p.P165P	RP11-464F9.21_ENST00000607450.1_RNA|SYNPO2L_ENST00000372873.4_5'Flank|RP11-464F9.21_ENST00000606726.1_RNA	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	165	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCGGAGGGGTGGGCCTTGTGG	0.652																																																	0													23	30	28					10																	75413174		692	1591	2283	SO:0001819	synonymous_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.495C>T	10.37:g.75413174G>A			A5PKV9|Q68A20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P165	ENST00000394810.2	37	c.495	CCDS44438.1	10																																																																																			SYNPO2L	-	NULL	ENSG00000166317		0.652	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	-	0	57	0	G	NM_024875		75413174	-1	tier1	-	no_errors	ENST00000394810	ensembl	human	known	74_37	silent	38.78	30	19	SNP	0.103	A	A	75413174	G	A	75413174	2	1	50	1	0	0	0	0	0	0	0	1	15505	1335	47	3		3	SYNPO2L	10	75413174	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	31753755	75413174	60121573	73	12019											
LRIT1	26103	genome.wustl.edu	37	chr10	85992483	85992483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgcccatagtgctcctgGgctcccactgtgttctgtgg	3	13	11	14	0	1	0	0	0	1	0	3	0	3	0	4	2	2	3	4	2	1	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:85992483G>T	ENST00000372105.3	-	4	1093	c.1072C>A	c.(1072-1074)Cca>Aca	p.P358T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	358						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGTGCTCCTGGGCTCCCACTG	0.557																																																	0													58	47	50					10																	85992483		2203	4300	6503	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1072C>A	10.37:g.85992483G>T	ENSP00000361177:p.Pro358Thr		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P358T	ENST00000372105.3	37	c.1072	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	3.503	-0.101363	0.06967	.	.	ENSG00000148602	ENST00000372105	T	0.38077	1.16	5.8	4.82	0.62117	.	0.384460	0.30781	N	0.008882	T	0.21227	0.0511	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.06588	-1.0818	10	0.29301	T	0.29	.	8.2867	0.31932	0.086:0.0:0.7467:0.1673	.	358	Q9P2V4	LRIT1_HUMAN	T	358	ENSP00000361177:P358T	ENSP00000361177:P358T	P	-	1	0	LRIT1	85982463	0.001000	0.12720	0.109000	0.21407	0.178000	0.23041	0.340000	0.19892	2.749000	0.94314	0.655000	0.94253	CCA	LRIT1	-	NULL	ENSG00000148602		0.557	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0	29	0	G	NM_015613		85992483	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.091	T	T	85992483	G	T	85992483	3	4	50	1	0	0	0	0	1	0	0	0	8982	1232	43	3	803	3	LRIT1	10	85992483	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	10579309	85992483	49542264	74	12020											
RRP12	23223	genome.wustl.edu	37	chr10	99160097	99160097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagttggactcccagaagcGctgtactttgctgaaggtga	9	10	13	9	2	0	3	0	2	0	1	1	5	1	4	1	2	3	4	1	2	3	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:99160097G>A	ENST00000370992.4	-	2	445	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000414986.1_Missense_Mutation_p.R112C|RRP12_ENST00000315563.6_Missense_Mutation_p.R112C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	112						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCCCAGAAGCGCTGTACTTTG	0.577																																																	0													141	138	139					10																	99160097		2203	4300	6503	SO:0001583	missense	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.334C>T	10.37:g.99160097G>A	ENSP00000360031:p.Arg112Cys		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.R112C	ENST00000370992.4	37	c.334	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013025	0.93346	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986	T;T;T	0.37411	1.27;1.2;1.23	5.7	5.7	0.88788	Armadillo-type fold (1);	0.050919	0.85682	N	0.000000	T	0.62624	0.2443	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.87578	0.996;0.998;0.8	T	0.65788	-0.6083	10	0.59425	D	0.04	-7.8394	13.5515	0.61734	0.0:0.0:0.844:0.156	.	112;112;112	E9PCK7;Q5JTH9-2;Q5JTH9	.;.;RRP12_HUMAN	C	112	ENSP00000360031:R112C;ENSP00000324315:R112C;ENSP00000414863:R112C	ENSP00000324315:R112C	R	-	1	0	RRP12	99150087	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.274000	0.65569	2.693000	0.91896	0.462000	0.41574	CGC	RRP12	-	superfamily_ARM-type_fold	ENSG00000052749		0.577	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	-	0	35	0	G	NM_015179		99160097	-1	tier1	-	no_errors	ENST00000370992	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	99160097	G	A	99160097	3	1	50	1	0	0	0	0	1	0	0	0	13731	1087	38	1	3691	1	RRP12	10	99160097	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	13167614	99160097	36374650	75	12021											
C10orf76	79591	genome.wustl.edu	37	chr10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaaaaaaccactttGgtgttcttcttccttgtctt	10	15	7	9	0	3	1	0	0	3	1	4	2	4	1	2	1	2	2	2	1	3	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											125	124	124					10																	103771512		1823	4079	5902	SO:0001583	missense	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	C10orf76	-	superfamily_ARM-type_fold	ENSG00000120029		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0	53	0	G	NM_024541		103771512	-1	tier1	-	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T	T	103771512	G	T	103771512	3	4	50	1	0	0	0	0	1	0	0	0	1621	1357	47	3	1334	3	C10orf76	10	103771512	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	4611415	103771512	31763235	76	12022											
SUFU	51684	genome.wustl.edu	37	chr10	104386980	104386980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttggaggatttagaaGatttgacttctccagaggaa	14	12	11	4	0	1	4	0	1	1	3	2	7	1	7	1	3	0	1	1	3	4	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:104386980G>T	ENST00000369902.3	+	11	1511	c.1345G>T	c.(1345-1347)Gat>Tat	p.D449Y		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	449					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGATTTAGAAGATTTGACTTC	0.423			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													188	183	185					10																	104386980		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1345G>T	10.37:g.104386980G>T	ENSP00000358918:p.Asp449Tyr		Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk	p.D449Y	ENST00000369902.3	37	c.1345	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205569	0.58234	.	.	ENSG00000107882	ENST00000369902	T	0.55760	0.5	4.72	4.72	0.59763	Suppressor of fused C-terminal (1);	0.104657	0.64402	D	0.000002	T	0.38772	0.1053	L	0.34521	1.04	0.80722	D	1	B	0.28713	0.22	B	0.28553	0.091	T	0.26430	-1.0103	10	0.02654	T	1	-6.9687	16.2192	0.82247	0.0:0.0:1.0:0.0	.	449	Q9UMX1	SUFU_HUMAN	Y	449	ENSP00000358918:D449Y	ENSP00000358918:D449Y	D	+	1	0	SUFU	104376970	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.970000	0.93415	2.344000	0.79699	0.561000	0.74099	GAT	SUFU	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_euk	ENSG00000107882		0.423	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1		0	20	0	G	NM_016169		104386980	1			no_errors	ENST00000369902	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	104386980	G	T	104386980	3	4	50	1	0	0	0	0	1	0	0	0	15415	942	33	3	1397	3	SUFU	10	104386980	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	615468	104386980	31147767	77	12023											
PDCD11	22984	genome.wustl.edu	37	chr10	105204417	105204417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatcgacatgaccatcaagCacggcagccagaaggacgtc	14	5	10	12	3	1	2	1	1	0	1	3	4	1	3	2	2	2	2	2	2	3	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr10:105204417C>A	ENST00000369797.3	+	35	5516	c.5422C>A	c.(5422-5424)Cac>Aac	p.H1808N		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1808					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GACCATCAAGCACGGCAGCCA	0.602																																																	0													107	96	100					10																	105204417		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5422C>A	10.37:g.105204417C>A	ENSP00000358812:p.His1808Asn		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.H1808N	ENST00000369797.3	37	c.5422	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223775	0.79576	.	.	ENSG00000148843	ENST00000369797	T	0.34072	1.38	5.57	3.39	0.38822	Tetratricopeptide-like helical (1);Suppressor of forked (1);	0.134456	0.64402	D	0.000002	T	0.41050	0.1142	L	0.35723	1.085	0.58432	D	0.999994	D	0.59767	0.986	P	0.57009	0.811	T	0.13124	-1.0521	10	0.28530	T	0.3	-5.737	13.0293	0.58833	0.0:0.8471:0.0:0.1529	.	1808	Q14690	RRP5_HUMAN	N	1808	ENSP00000358812:H1808N	ENSP00000358812:H1808N	H	+	1	0	PDCD11	105194407	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	3.354000	0.52254	1.358000	0.45922	0.561000	0.74099	CAC	PDCD11	-	pfam_Suf	ENSG00000148843		0.602	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0	36	0	C			105204417	1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	A	A	105204417	C	A	105204417	3	1	50	1	0	0	0	0	1	0	0	0	11656	710	25	3	5556	3	PDCD11	10	105204417	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	817437	105204417	30330330	78	12024											
KRTAP5-3	387266	genome.wustl.edu	37	chr11	1628947	1628948	+	Missense_Mutation	DNP	GG	GG	AC																															acacagcagctggactgggaGgagcagggcttgcagcagct																								rs117085626|rs544320132	byFrequency	TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr11:1628947_1628948GG>AC	ENST00000399685.1	-	1	745_746	c.668_669CC>GT	c.(667-669)tCC>tGT	p.S223C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	223	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGACTGGGAGGAGCAGGGCTT	0.599																																																	0																																										SO:0001583	missense	0			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.668_669delinsAC	11.37:g.1628947_1628948delinsAC	ENSP00000382592:p.Ser223Cys		Q6PL44|Q701N3	Silent|Missense_Mutation	SNP	NULL	p.S223|p.S223C	ENST00000399685.1	37	c.669|c.668	CCDS41591.1	11																																																																																			KRTAP5-3	-	NULL	ENSG00000196224		0.599	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-3	HGNC	protein_coding	OTTHUMT00000127924.1	-	0	231|230	0	G			1628947|1628948	-1	tier1	-	no_errors	ENST00000399685	ensembl	human	known	74_37	silent|missense	18.52	66	15	SNP	0.962|1.000	A|C	AC	1628948	GG	AC	1628947	3	1	50	1	0	0	0	0	1	0	0	0	8590	987	35	3	51	3	KRTAP5-3	11	1628947	Missense_Mutation	DNP	GG	TCGA-L5-A43H-01A-11D-A247-09		1628947	133377569	79	12025	44	2									
KRTAP5-3	387266	genome.wustl.edu	37	chr11	1628956	1628956	+	Silent	SNP	C	C	T																															ctggactgggaggagcagggCttgcagcagctggactggca																										TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr11:1628956C>T	ENST00000399685.1	-	1	737	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	220	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		AGGAGCAGGGCTTgcagcagc	0.612																																																	0													155	161	159					11																	1628956		2202	4299	6501	SO:0001819	synonymous_variant	0			AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"Keratin associated proteins"	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.660G>A	11.37:g.1628956C>T			Q6PL44|Q701N3	Silent	SNP	NULL	p.K220	ENST00000399685.1	37	c.660	CCDS41591.1	11																																																																																			KRTAP5-3	-	NULL	ENSG00000196224		0.612	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-3	HGNC	protein_coding	OTTHUMT00000127924.1		0	250	0	C			1628956	-1			no_errors	ENST00000399685	ensembl	human	known	74_37	silent	17.50	66	14	SNP	0.815	T	T	1628956	C	T	1628956	2	4	50	1	0	0	0	0	0	0	0	1	8590	796	28	3		3	KRTAP5-3	11	1628956	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	9	1628956	133377560	80	12026	44	2									
ARRB1	408	genome.wustl.edu	37	chr11	74995295	74995295	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctctccgctctttgagAtactcaggatccaccaggac	9	10	7	15	1	3	1	1	1	2	1	5	4	4	3	4	2	2	1	4	2	2	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr11:74995295A>T	ENST00000420843.2	-	4	238	c.141T>A	c.(139-141)taT>taA	p.Y47*	ARRB1_ENST00000360025.3_Nonsense_Mutation_p.Y47*|ARRB1_ENST00000393505.4_Nonsense_Mutation_p.Y47*	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	47	Interaction with CHRM2. {ECO:0000250}.|Interaction with SRC. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GCTCTTTGAGATACTCAGGAT	0.612																																																	0													63	58	60					11																	74995295		2200	4293	6493	SO:0001587	stop_gained	0			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.141T>A	11.37:g.74995295A>T	ENSP00000409581:p.Tyr47*		B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Nonsense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.Y47*	ENST00000420843.2	37	c.141	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	A	37	6.531211	0.97641	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.	.	.	5.2	-1.28	0.09318	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.5173	9.9708	0.41752	0.4535:0.0:0.5465:0.0	.	.	.	.	X	47;47;47;42	.	ENSP00000353124:Y47X	Y	-	3	2	ARRB1	74672943	0.980000	0.34600	0.996000	0.52242	0.984000	0.73092	0.213000	0.17521	-0.194000	0.10399	0.379000	0.24179	TAT	ARRB1	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000137486		0.612	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0	48	0	A	NM_004041		74995295	-1	tier1	-	no_errors	ENST00000393505	ensembl	human	known	74_37	nonsense	38.18	34	21	SNP	0.990	T	T	74995295	A	T	74995295	4	4	50	1	0	0	0	0	0	1	0	0	981	340	12	5	1167	5	ARRB1	11	74995295	Nonsense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	73366339	74995295	60011221	81	12027											
SYTL2	54843	genome.wustl.edu	37	chr11	85406271	85406271	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaatcaaaagcattctGagaggcagtgttgcttcaat	12	12	10	7	0	3	1	2	1	1	1	3	2	3	1	0	2	2	5	0	2	4	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr11:85406271G>T	ENST00000528231.1	-	18	3049	c.2772C>A	c.(2770-2772)ctC>ctA	p.L924L	SYTL2_ENST00000525702.1_Silent_p.L366L|SYTL2_ENST00000389958.3_Silent_p.L355L|SYTL2_ENST00000529581.1_Silent_p.L366L|SYTL2_ENST00000525423.1_Silent_p.L1246L|SYTL2_ENST00000524452.1_Silent_p.L900L|SYTL2_ENST00000389960.4_Silent_p.L900L|SYTL2_ENST00000316356.4_Silent_p.L925L|SYTL2_ENST00000359152.5_Silent_p.L1770L|SYTL2_ENST00000527523.1_Silent_p.L892L|SYTL2_ENST00000354566.3_Silent_p.L1262L|SYTL2_ENST00000533892.1_Silent_p.L326L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	924					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AAAGCATTCTGAGAGGCAGTG	0.453																																																	0													119	117	117					11																	85406271		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2772C>A	11.37:g.85406271G>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L1770	ENST00000528231.1	37	c.5310	CCDS53688.1	11																																																																																			SYTL2	-	NULL	ENSG00000137501		0.453	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1		0	22	0	G	NM_206927		85406271	-1			no_errors	ENST00000359152	ensembl	human	known	74_37	silent	14.29	18	3	SNP	1.000	T	T	85406271	G	T	85406271	2	4	50	1	0	0	0	0	0	0	0	1	15530	1277	45	3		3	SYTL2	11	85406271	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	10410976	85406271	49600245	82	12028											
KLRK1	22914	genome.wustl.edu	37	chr12	10530782	10530782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgccaagatccatttgttGgaatgtgtactagtcccatc	10	13	8	10	0	0	1	0	0	0	1	3	2	2	2	3	1	2	2	3	1	4	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr12:10530782G>T	ENST00000240618.6	-	7	622	c.482C>A	c.(481-483)cCa>cAa	p.P161Q	RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Missense_Mutation_p.P161Q	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	161	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TCCATTTGTTGGAATGTGTAC	0.363																																																	0													201	177	185					12																	10530782		2203	4300	6503	SO:0001583	missense	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.482C>A	12.37:g.10530782G>T	ENSP00000240618:p.Pro161Gln		A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.P161Q	ENST00000240618.6	37	c.482	CCDS8623.1	12	.	.	.	.	.	.	.	.	.	.	G	3.924	-0.017504	0.07681	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.18174	2.23;2.23	5.59	4.69	0.59074	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.523560	0.03740	N	0.254794	T	0.13500	0.0327	N	0.16098	0.37	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.23084	-1.0198	10	0.33141	T	0.24	.	10.1811	0.42968	0.0913:0.0:0.9087:0.0	.	161	P26718	NKG2D_HUMAN	Q	161	ENSP00000240618:P161Q;ENSP00000446003:P161Q	ENSP00000240618:P161Q	P	-	2	0	KLRK1	10422049	0.003000	0.15002	0.002000	0.10522	0.379000	0.30106	1.167000	0.31847	1.357000	0.45904	0.655000	0.94253	CCA	KLRK1	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000213809		0.363	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRK1	HGNC	protein_coding	OTTHUMT00000400269.1	-	0	50	0	G	NM_007360		10530782	-1	tier1	-	no_errors	ENST00000240618	ensembl	human	known	74_37	missense	52.46	29	32	SNP	0.006	T	T	10530782	G	T	10530782	3	4	50	1	0	0	0	0	1	0	0	0	8450	1348	47	3	176	3	KLRK1	12	10530782	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09		10530782	123321113	83	12029											
CNTN1	1272	genome.wustl.edu	37	chr12	41323615	41323615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgatcttagctatcgcTggcttctaaatgaatttcct	10	16	7	8	1	2	3	0	2	2	1	4	3	3	3	1	1	1	3	1	1	6	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr12:41323615T>C	ENST00000551295.2	+	7	631	c.514T>C	c.(514-516)Tgg>Cgg	p.W172R	CNTN1_ENST00000348761.2_Missense_Mutation_p.W161R|CNTN1_ENST00000347616.1_Missense_Mutation_p.W172R|CNTN1_ENST00000360099.3_Missense_Mutation_p.W172R|CNTN1_ENST00000547849.1_Missense_Mutation_p.W172R|CNTN1_ENST00000547702.1_Missense_Mutation_p.W172R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	172	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGCTATCGCTGGCTTCTAAA	0.358																																																	0													75	74	74					12																	41323615		2203	4299	6502	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.514T>C	12.37:g.41323615T>C	ENSP00000447006:p.Trp172Arg		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W172R	ENST00000551295.2	37	c.514	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034503	0.75617	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.48	5.48	0.80851	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98972	0.9650	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99552	1.0966	10	0.87932	D	0	.	15.8965	0.79338	0.0:0.0:0.0:1.0	.	172;161;172	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	R	172;172;172;172;172;161	ENSP00000448004:W172R;ENSP00000447006:W172R;ENSP00000448653:W172R;ENSP00000325660:W172R;ENSP00000353213:W172R;ENSP00000261160:W161R	ENSP00000325660:W172R	W	+	1	0	CNTN1	39609882	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.698000	0.84413	2.225000	0.72522	0.533000	0.62120	TGG	CNTN1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000018236		0.358	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	40	0	T	NM_001843		41323615	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	19.15	38	9	SNP	1.000	C	C	41323615	T	C	41323615	3	2	50	1	0	0	0	0	1	0	0	0	3647	1580	55	4	536	4	CNTN1	12	41323615	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	30792833	41323615	92528280	84	12030											
ESPL1	9700	genome.wustl.edu	37	chr12	53663505	53663505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccttggaacactgccGtcgcttttgctggagccgcc	5	10	11	15	3	1	0	1	0	0	0	2	2	1	2	4	2	4	3	4	2	1	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr12:53663505G>A	ENST00000257934.4	+	3	870	c.779G>A	c.(778-780)cGt>cAt	p.R260H	ESPL1_ENST00000552462.1_Missense_Mutation_p.R260H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	260					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAACACTGCCGTCGCTTTTGC	0.572																																					Colon(53;1069 1201 2587 5382)												0													67	67	67					12																	53663505		2203	4300	6503	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.779G>A	12.37:g.53663505G>A	ENSP00000257934:p.Arg260His			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.R260H	ENST00000257934.4	37	c.779	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429533	0.83776	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.15256	2.44;2.44	5.41	4.5	0.54988	.	0.131175	0.50627	D	0.000102	T	0.36663	0.0975	M	0.72118	2.19	0.37632	D	0.921717	D	0.89917	1.0	D	0.63283	0.913	T	0.18116	-1.0347	9	.	.	.	.	13.5552	0.61756	0.0776:0.0:0.9224:0.0	.	260	Q14674	ESPL1_HUMAN	H	260	ENSP00000257934:R260H;ENSP00000449831:R260H	.	R	+	2	0	ESPL1	51949772	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.064000	0.57506	2.815000	0.96918	0.561000	0.74099	CGT	ESPL1	-	NULL	ENSG00000135476		0.572	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	36	0	G	NM_012291		53663505	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.997	A	A	53663505	G	A	53663505	3	1	50	1	0	0	0	0	1	0	0	0	5269	1145	40	1	785	1	ESPL1	12	53663505	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	12339890	53663505	80188390	85	12031											
SRGAP1	57522	genome.wustl.edu	37	chr12	64536104	64536104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaacgatgaacacagctttGaatgaactccgagaactgga	16	7	10	8	2	0	4	0	3	0	1	1	8	1	5	1	1	5	1	1	1	5	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr12:64536104G>A	ENST00000355086.3	+	22	3434	c.2910G>A	c.(2908-2910)ttG>ttA	p.L970L	SRGAP1_ENST00000357825.3_Silent_p.L947L|SRGAP1_ENST00000543397.1_Silent_p.L907L	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	970					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACACAGCTTTGAATGAACTCC	0.443																																																	0													68	66	67					12																	64536104		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2910G>A	12.37:g.64536104G>A			Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L970	ENST00000355086.3	37	c.2910	CCDS8967.1	12																																																																																			SRGAP1	-	NULL	ENSG00000196935		0.443	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	-	0	19	0	G			64536104	1	tier1	-	no_errors	ENST00000355086	ensembl	human	known	74_37	silent	20.00	20	5	SNP	1.000	A	A	64536104	G	A	64536104	2	1	50	1	0	0	0	0	0	0	0	1	15192	1281	45	3		3	SRGAP1	12	64536104	Silent	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	10872599	64536104	69315791	86	12032											
LUM	4060	genome.wustl.edu	37	chr12	91502642	91502642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagggcagttacattctgGtgcacagtttggtgatgatt	8	15	12	6	0	2	2	1	2	1	0	2	2	2	2	0	3	2	4	0	3	1	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr12:91502642G>T	ENST00000266718.4	-	2	569	c.115C>A	c.(115-117)Cca>Aca	p.P39T	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	39	Cys-rich.|LRRNT.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTACATTCTGGTGCACAGTTT	0.423																																																	0													108	101	103					12																	91502642		2203	4300	6503	SO:0001583	missense	0			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.115C>A	12.37:g.91502642G>T	ENSP00000266718:p.Pro39Thr		B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P39T	ENST00000266718.4	37	c.115	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264399	0.59431	.	.	ENSG00000139329	ENST00000266718	D	0.96491	-4.03	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.107611	0.64402	D	0.000004	D	0.95648	0.8585	L	0.36672	1.1	0.50632	D	0.999889	D	0.55385	0.971	P	0.52710	0.707	D	0.93632	0.6957	10	0.21014	T	0.42	-5.1665	20.1225	0.97967	0.0:0.0:1.0:0.0	.	39	P51884	LUM_HUMAN	T	39	ENSP00000266718:P39T	ENSP00000266718:P39T	P	-	1	0	LUM	90026773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.260000	0.58835	2.831000	0.97527	0.650000	0.86243	CCA	LUM	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000139329		0.423	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2		0	58	0	G	NM_002345		91502642	-1			no_errors	ENST00000266718	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	91502642	G	T	91502642	3	4	50	1	0	0	0	0	1	0	0	0	9120	1261	44	3	909	3	LUM	12	91502642	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	26966538	91502642	42349253	87	12033											
ACAD10	80724	genome.wustl.edu	37	chr12	112153654	112153654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactacttcagtttgatcacGggcagtcaaatccaacttac	13	11	6	11	1	3	1	3	1	0	0	4	1	4	1	1	1	4	2	1	1	5	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr12:112153654G>A	ENST00000313698.4	+	7	1035	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	ACAD10_ENST00000549590.1_Missense_Mutation_p.G294R|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.G325R|ACAD10_ENST00000413681.3_3'UTR	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	294						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTTTGATCACGGGCAGTCAAA	0.473																																																	0													154	148	150					12																	112153654		2203	4300	6503	SO:0001583	missense	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.880G>A	12.37:g.112153654G>A	ENSP00000325137:p.Gly294Arg		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.G325R	ENST00000313698.4	37	c.973	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175239	0.78564	.	.	ENSG00000111271	ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000552706;ENST00000507683	T;T;T	0.74106	-0.81;-0.81;-0.81	5.24	4.35	0.52113	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91516	0.7321	H	0.98965	4.385	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.933;1.0;1.0;1.0	D	0.94356	0.7583	10	0.87932	D	0	.	13.8813	0.63684	0.0753:0.0:0.9247:0.0	.	325;32;294;294	G3XAJ0;F8W0Q4;Q6JQN1;Q6JQN1-2	.;.;ACD10_HUMAN;.	R	294;294;325;294;32;32	ENSP00000446959:G294R;ENSP00000389813:G325R;ENSP00000325137:G294R	ENSP00000325137:G294R	G	+	1	0	ACAD10	110638037	1.000000	0.71417	0.949000	0.38748	0.923000	0.55619	4.774000	0.62339	1.331000	0.45412	0.655000	0.94253	GGG	ACAD10	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000111271		0.473	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	-	0	48	0	G	NM_025247		112153654	1	tier1	-	no_errors	ENST00000455480	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.998	A	A	112153654	G	A	112153654	3	1	50	1	0	0	0	0	1	0	0	0	108	1116	39	1	999	1	ACAD10	12	112153654	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	20651012	112153654	21698241	88	12034											
PARP4	143	genome.wustl.edu	37	chr13	25023941	25023941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatccttaagacgtgaCgatttgctgtagaactgatc	14	11	8	8	2	0	4	0	2	0	2	2	5	1	4	1	0	2	2	1	0	5	3	rs371200121		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr13:25023941C>A	ENST00000381989.3	-	25	3134	c.3029G>T	c.(3028-3030)cGt>cTt	p.R1010L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1010	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TAAGACGTGACGATTTGCTGT	0.333																																																	0													69	70	70					13																	25023941		2203	4300	6503	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3029G>T	13.37:g.25023941C>A	ENSP00000371419:p.Arg1010Leu		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.R1010L	ENST00000381989.3	37	c.3029	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536467	0.45176	.	.	ENSG00000102699	ENST00000381989	T	0.08370	3.1	4.64	2.92	0.33932	von Willebrand factor, type A (3);	0.111378	0.64402	D	0.000006	T	0.14657	0.0354	M	0.80847	2.515	0.47214	D	0.999353	B	0.23058	0.079	B	0.32864	0.154	T	0.01839	-1.1263	10	0.66056	D	0.02	-7.1841	8.7825	0.34800	0.0:0.8151:0.0:0.1849	.	1010	Q9UKK3	PARP4_HUMAN	L	1010	ENSP00000371419:R1010L	ENSP00000371419:R1010L	R	-	2	0	PARP4	23921941	0.999000	0.42202	0.999000	0.59377	0.768000	0.43524	1.033000	0.30191	0.615000	0.30124	0.545000	0.68477	CGT	PARP4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000102699		0.333	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0	37	0	C	NM_006437		25023941	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	25023941	C	A	25023941	3	1	50	1	0	0	0	0	1	0	0	0	11502	536	19	2	2185	2	PARP4	13	25023941	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		25023941	90145937	89	12035											
NDFIP2	54602	genome.wustl.edu	37	chr13	80117762	80117762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caataccatagctggaaggtAtggtgctatctgcggatttg	10	12	12	7	1	1	0	0	0	1	0	1	2	1	2	1	4	4	3	1	4	6	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr13:80117762A>G	ENST00000218652.7	+	5	837	c.785A>G	c.(784-786)tAt>tGt	p.Y262C		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	262					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GCTGGAAGGTATGGTGCTATC	0.378																																																	0													284	249	261					13																	80117762		2203	4300	6503	SO:0001583	missense	0			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.785A>G	13.37:g.80117762A>G	ENSP00000218652:p.Tyr262Cys		Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	pfam_NEDD4/BSD2	p.Y262C	ENST00000218652.7	37	c.785	CCDS31998.1	13	.	.	.	.	.	.	.	.	.	.	A	24.3	4.520015	0.85495	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;D	0.94376	0.84;-3.41	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97012	0.9737	10	0.72032	D	0.01	-23.9248	16.2311	0.82343	1.0:0.0:0.0:0.0	.	148;262	B4DGY6;Q9NV92	.;NFIP2_HUMAN	C	262;159	ENSP00000218652:Y262C;ENSP00000419200:Y159C	ENSP00000218652:Y262C	Y	+	2	0	NDFIP2	79015763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.831000	0.92068	2.234000	0.73211	0.528000	0.53228	TAT	NDFIP2	-	pfam_NEDD4/BSD2	ENSG00000102471		0.378	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP2	HGNC	protein_coding	OTTHUMT00000045380.2	-	0	79	0	A			80117762	1	tier1	-	no_errors	ENST00000218652	ensembl	human	known	74_37	missense	27.06	62	23	SNP	1.000	G	G	80117762	A	G	80117762	3	3	50	1	0	0	0	0	1	0	0	0	10285	449	16	4	803	4	NDFIP2	13	80117762	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	55093821	80117762	35052116	90	12036											
ARHGAP5	394	genome.wustl.edu	37	chr14	32560528	32560528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcaggcatttgcttcaaAtaaaaagaaccttcttgtag	14	13	7	7	0	3	1	2	0	1	1	3	1	3	1	1	1	2	4	1	1	6	7			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr14:32560528A>G	ENST00000345122.3	+	2	968	c.653A>G	c.(652-654)aAt>aGt	p.N218S	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N218S|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N218S|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N218S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	218					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTGCTTCAAATAAAAAGAAC	0.343																																					NSCLC(9;77 350 3443 29227 41353)												0													74	80	78					14																	32560528		2202	4298	6500	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.653A>G	14.37:g.32560528A>G	ENSP00000371897:p.Asn218Ser		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.N218S	ENST00000345122.3	37	c.653	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.773771	0.00640	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.78	5.78	0.91487	.	0.182527	0.64402	D	0.000020	T	0.50000	0.1590	N	0.03177	-0.4	0.36340	D	0.859426	B;B	0.10296	0.002;0.003	B;B	0.16289	0.009;0.015	T	0.54476	-0.8288	10	0.02654	T	1	.	16.1081	0.81237	1.0:0.0:0.0:0.0	.	218;218	Q13017-2;Q13017	.;RHG05_HUMAN	S	218	ENSP00000452222:N218S;ENSP00000441692:N218S;ENSP00000371897:N218S;ENSP00000393307:N218S	ENSP00000371897:N218S	N	+	2	0	ARHGAP5	31630279	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.129000	0.64739	2.194000	0.70268	0.533000	0.62120	AAT	ARHGAP5	-	pfam_Small_GTPase,superfamily_P-loop_NTPase	ENSG00000100852		0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	29	0	A	NM_001030055		32560528	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	G	G	32560528	A	G	32560528	3	3	50	1	0	0	0	0	1	0	0	0	886	101	4	4	655	4	ARHGAP5	14	32560528	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09		32560528	74789012	91	12037											
NAA30	122830	genome.wustl.edu	37	chr14	57866569	57866569	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaacttggttaagaaagctAtatatgccatggttgaggga	13	12	11	5	0	0	2	0	1	0	1	0	3	0	3	1	3	3	3	1	3	6	7			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr14:57866569A>G	ENST00000556492.1	+	4	1073	c.919A>G	c.(919-921)Ata>Gta	p.I307V	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Missense_Mutation_p.I49V	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	307	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						TAAGAAAGCTATATATGCCAT	0.274																																																	0													138	156	150					14																	57866569		2203	4298	6501	SO:0001583	missense	0			AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"N(alpha)-acetyltransferase subunits"	19844	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 35", "N-acetyltransferase 12", "N-acetyltransferase 12 (GCN5-related, putative)"	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.919A>G	14.37:g.57866569A>G	ENSP00000452521:p.Ile307Val		Q0IIN2	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.I307V	ENST00000556492.1	37	c.919	CCDS32088.1	14	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714957	0.68844	.	.	ENSG00000139977	ENST00000555166;ENST00000556492;ENST00000395257	T;T	0.22945	1.93;1.93	5.64	4.49	0.54785	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	L	0.48877	1.53	0.80722	D	1	B	0.32781	0.384	P	0.49953	0.627	T	0.23762	-1.0179	10	0.56958	D	0.05	-7.4041	12.1342	0.53961	0.8716:0.0:0.0:0.1284	.	307	Q147X3	NAA30_HUMAN	V	49;307;270	ENSP00000450939:I49V;ENSP00000452521:I307V	ENSP00000298406:I307V	I	+	1	0	NAA30	56936322	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.313000	0.96297	0.947000	0.37659	0.533000	0.62120	ATA	NAA30	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000139977		0.274	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA30	HGNC	protein_coding	OTTHUMT00000412925.1	-	0	52	0	A	NM_001011713		57866569	1	tier1	-	no_errors	ENST00000556492	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	G	G	57866569	A	G	57866569	3	3	50	1	0	0	0	0	1	0	0	0	10160	449	16	4	929	4	NAA30	14	57866569	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	25306041	57866569	49482971	92	12038											
DAAM1	23002	genome.wustl.edu	37	chr14	59792408	59792408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttttttgaaatgctccGaaatgaagatgaactagaat	16	12	8	5	1	0	6	0	3	0	3	1	7	1	6	1	0	2	1	1	0	6	4	rs61755339		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr14:59792408G>T	ENST00000395125.1	+	8	1039	c.1016G>T	c.(1015-1017)cGa>cTa	p.R339L	DAAM1_ENST00000360909.3_Missense_Mutation_p.R339L|DAAM1_ENST00000351081.1_Missense_Mutation_p.R339L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	339	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)	p.R339L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAATGCTCCGAAATGAAGAT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											120	118	119					14																	59792408		2203	4300	6503	SO:0001583	missense	0			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.1016G>T	14.37:g.59792408G>T	ENSP00000378557:p.Arg339Leu		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.R339L	ENST00000395125.1	37	c.1016	CCDS9737.1	14	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416946	0.83449	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.84223	-1.82;-1.82;-1.82	5.35	5.35	0.76521	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	M	0.86953	2.85	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.81914	0.992;0.995	D	0.91844	0.5486	10	0.36615	T	0.2	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	339;339	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	L	339	ENSP00000354162:R339L;ENSP00000247170:R339L;ENSP00000378557:R339L	ENSP00000247170:R339L	R	+	2	0	DAAM1	58862161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	CGA	DAAM1	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000100592		0.313	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAAM1	HGNC	protein_coding	OTTHUMT00000276942.2		0	30	0	G	NM_014992		59792408	1			no_errors	ENST00000351081	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	59792408	G	T	59792408	3	4	50	1	0	0	0	0	1	0	0	0	4224	1058	37	2	1046	2	DAAM1	14	59792408	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	1925839	59792408	47557132	93	12039											
SNW1	22938	genome.wustl.edu	37	chr14	78198839	78198840	+	Frame_Shift_Ins	INS	-	-	A																															aaaccaaccttccgatcagcINSaatgtagagggcttctgcca																										TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr14:78198839_78198840insA	ENST00000261531.7	-	9	941_942	c.879_880insT	c.(877-882)attgctfs	p.A294fs	SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Frame_Shift_Ins_p.A294fs|SNW1_ENST00000554775.1_Frame_Shift_Ins_p.A132fs	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	294	SNW.				cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin D receptor signaling pathway (GO:0070562)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|chromatin (GO:0000785)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	Notch binding (GO:0005112)|nuclear hormone receptor binding (GO:0035257)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)|SMAD binding (GO:0046332)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|vitamin D receptor binding (GO:0042809)			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTCCGATCAGCAATGTAGAGGG	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF045184	CCDS9867.1	14q22.1-q22.3	2005-09-13	2005-09-13	2005-09-13		ENSG00000100603			16696	protein-coding gene	gene with protein product		603055	"SKI interacting protein"	SKIIP		8973337, 9632709	Standard	NM_012245		Approved	NCoA-62, SKIP, Prp45, PRPF45, Bx42	uc001xuf.3	Q13573		ENST00000261531.7:c.880dupT	14.37:g.78198841_78198841dupA	ENSP00000261531:p.Ala294fs		A8K8A9|Q13483|Q32N03|Q5D0D6	Frame_Shift_Ins	INS	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	p.A293fs	ENST00000261531.7	37	c.880_879	CCDS9867.1	14																																																																																			SNW1	-	pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx	ENSG00000100603		0.361	SNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNW1	HGNC	protein_coding	OTTHUMT00000413912.1		0	29	0	-	NM_012245		78198840	-1	tier1		no_errors	ENST00000261531	ensembl	human	known	74_37	frame_shift_ins	17.24	24	5	INS	1.000:0.998	A	A	78198840	-	A	78198839	7	5	50	1	0	1	1	0	0	0	0	0	14924	710	25	0	754	0	SNW1	14	78198839	Frame_Shift_Ins	INS	-	TCGA-L5-A43H-01A-11D-A247-09	18406431	78198839	29150701	94	12040											
MAN2C1	4123	genome.wustl.edu	37	chr15	75656447	75656447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccactgggaaggtctcgGgctgggcagggtcacacacg	7	5	18	11	2	2	0	1	0	1	0	3	1	2	1	1	6	0	2	1	6	1	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr15:75656447G>A	ENST00000267978.5	-	6	729	c.683C>T	c.(682-684)cCc>cTc	p.P228L	MAN2C1_ENST00000569482.1_Missense_Mutation_p.P228L|MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000563539.1_Intron|MAN2C1_ENST00000565683.1_Missense_Mutation_p.P228L	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	228					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GAAGGTCTCGGGCTGGGCAGG	0.617																																																	0													98	85	89					15																	75656447		2197	4294	6491	SO:0001583	missense	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.683C>T	15.37:g.75656447G>A	ENSP00000267978:p.Pro228Leu		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P228L	ENST00000267978.5	37	c.683	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	g	21.7	4.184034	0.78677	.	.	ENSG00000140400	ENST00000267978	T	0.17054	2.3	5.47	5.47	0.80525	Glycoside hydrolase, family 38, core (1);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	L	0.45137	1.4	0.80722	D	1	B;B;P	0.42785	0.23;0.091;0.79	B;B;B	0.39339	0.119;0.053;0.297	T	0.03483	-1.1032	10	0.06891	T	0.86	-16.3588	18.2886	0.90122	0.0:0.0:1.0:0.0	.	10;228;228	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	L	228	ENSP00000267978:P228L	ENSP00000267978:P228L	P	-	2	0	MAN2C1	73443500	1.000000	0.71417	0.871000	0.34182	0.767000	0.43475	7.364000	0.79526	2.576000	0.86940	0.486000	0.48141	CCC	MAN2C1	-	NULL	ENSG00000140400		0.617	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	-	0	66	0	G			75656447	-1	tier1	-	no_errors	ENST00000267978	ensembl	human	known	74_37	missense	15.69	43	8	SNP	0.999	A	A	75656447	G	A	75656447	3	1	50	1	0	0	0	0	1	0	0	0	9256	1232	43	3	2523	3	MAN2C1	15	75656447	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09		75656447	26874945	95	12041											
ZNF710	374655	genome.wustl.edu	37	chr15	90623058	90623058	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcctactacaatgtgctAtagcgcaagctgggccaccc	10	8	10	13	1	0	0	0	0	0	0	0	0	0	0	3	2	5	3	3	2	6	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr15:90623058A>G	ENST00000268154.4	+	5	2243	c.1992A>G	c.(1990-1992)ctA>ctG	p.L664L	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACAATGTGCTATAGCGCAAGC	0.627																																																	0													50	45	47					15																	90623058		2200	4298	6498	SO:0001819	synonymous_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1992A>G	15.37:g.90623058A>G			A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L664	ENST00000268154.4	37	c.1992	CCDS10358.1	15																																																																																			ZNF710	-	NULL	ENSG00000140548		0.627	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1		0	26	0	A	NM_198526		90623058	1			no_errors	ENST00000268154	ensembl	human	known	74_37	silent	11.54	23	3	SNP	1.000	G	G	90623058	A	G	90623058	2	3	50	1	0	0	0	0	0	0	0	1	18163	436	16	4		4	ZNF710	15	90623058	Silent	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	14966611	90623058	11908334	96	12042											
CREBBP	1387	genome.wustl.edu	37	chr16	3786138	3786138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacacattgggccagaaatCaccttcaaaatagggcagtt	15	9	8	9	0	2	1	2	0	0	1	2	1	2	1	2	2	1	2	2	2	5	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr16:3786138C>G	ENST00000262367.5	-	28	5436	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1505H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1543	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1543H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCCAGAAATCACCTTCAAAA	0.463			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM065107	CREBBP	M							250	204	220					16																	3786138		2197	4300	6497	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4627G>C	16.37:g.3786138C>G	ENSP00000262367:p.Asp1543His		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1543H	ENST00000262367.5	37	c.4627	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	c	19.87	3.907032	0.72868	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.98249	-4.82;-4.82	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98863	1.0763	10	0.87932	D	0	-21.1644	18.4344	0.90640	0.0:1.0:0.0:0.0	.	1573;1543	Q4LE28;Q92793	.;CBP_HUMAN	H	1543;1573;1505;132	ENSP00000262367:D1543H;ENSP00000371502:D1505H	ENSP00000262367:D1543H	D	-	1	0	CREBBP	3726139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.662000	0.90505	0.555000	0.69702	GAT	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000005339		0.463	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	91	0	C	NM_004380		3786138	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	missense	25.32	59	20	SNP	1.000	G	G	3786138	C	G	3786138	3	3	50	1	0	0	0	0	1	0	0	0	3868	826	29	5	2717	5	CREBBP	16	3786138	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		3786138	86568615	97	12043											
ITFG1	81533	genome.wustl.edu	37	chr16	47345168	47345168	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccttccagatgtgttcttTagtatgaccagagcgtctgg	8	14	10	9	1	2	3	0	1	2	2	3	3	3	3	3	1	2	2	3	1	3	6	rs370897829		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr16:47345168T>C	ENST00000320640.6	-	10	1281	c.1053A>G	c.(1051-1053)ctA>ctG	p.L351L	Y_RNA_ENST00000410835.1_RNA|ITFG1_ENST00000544001.2_Silent_p.L238L|RP11-474B12.1_ENST00000564739.1_RNA|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	351						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				ATGTGTTCTTTAGTATGACCA	0.358																																																	0								T		0,4404		0,0,2202	94	80	85		1053	0.1	1	16		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITFG1	NM_030790.3		0,1,6501	CC,CT,TT		0.0116,0.0,0.0077		351/613	47345168	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0			AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"T cell immunomodulatory protein"	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1053A>G	16.37:g.47345168T>C			Q96SR4|Q9BRE2|Q9H2V9	Silent	SNP	NULL	p.L351	ENST00000320640.6	37	c.1053	CCDS10728.1	16																																																																																			ITFG1	-	NULL	ENSG00000129636		0.358	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG1	HGNC	protein_coding	OTTHUMT00000256768.3	-	0	44	0	T	NM_030790		47345168	-1	tier1	-	no_errors	ENST00000320640	ensembl	human	known	74_37	silent	47.73	23	21	SNP	0.988	C	C	47345168	T	C	47345168	2	2	50	1	0	0	0	0	0	0	0	1	7896	1741	61	4		4	ITFG1	16	47345168	Silent	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	43559030	47345168	43009585	98	12044											
AKTIP	64400	genome.wustl.edu	37	chr16	53526624	53526624	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgagtcagcatctttTctctggcttcatcatgtaca	7	17	6	11	0	6	1	3	1	3	0	7	1	6	1	0	1	2	3	0	1	1	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr16:53526624T>A	ENST00000394657.7	-	9	926	c.752A>T	c.(751-753)gAa>gTa	p.E251V	AKTIP_ENST00000570004.1_Missense_Mutation_p.E251V|AKTIP_ENST00000300245.4_Missense_Mutation_p.E251V	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	251					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CAGCATCTTTTCTCTGGCTTC	0.328																																																	0													118	119	119					16																	53526624		2198	4300	6498	SO:0001583	missense	0			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"Ubiquitin-conjugating enzymes E2"	16710	protein-coding gene	gene with protein product		608483	"fused toes (mouse) homolog", "fused toes homolog (mouse)"	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.752A>T	16.37:g.53526624T>A	ENSP00000378152:p.Glu251Val		Q503B1|Q53H38	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E251V	ENST00000394657.7	37	c.752	CCDS10749.1	16	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854691	0.71719	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	D;D	0.84800	-1.9;-1.89	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.77103	2.36	0.80722	D	1	B;P	0.41041	0.078;0.736	B;B	0.38106	0.06;0.265	D	0.87388	0.2361	10	0.59425	D	0.04	-16.0404	16.6512	0.85203	0.0:0.0:0.0:1.0	.	251;251	Q9H8T0-2;Q9H8T0	.;AKTIP_HUMAN	V	251	ENSP00000378152:E251V;ENSP00000300245:E251V	ENSP00000300245:E251V	E	-	2	0	AKTIP	52084125	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.203000	0.72137	2.333000	0.79357	0.482000	0.46254	GAA	AKTIP	-	NULL	ENSG00000166971		0.328	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKTIP	HGNC	protein_coding	OTTHUMT00000256909.4		0	23	0	T	NM_022476		53526624	-1			no_errors	ENST00000300245	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	A	A	53526624	T	A	53526624	3	1	50	1	0	0	0	0	1	0	0	0	482	1783	62	5	134	5	AKTIP	16	53526624	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	6181456	53526624	36828129	99	12045											
FBXL8	55336	genome.wustl.edu	37	chr16	67197703	67197703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgagccgcatccctggAggcctacgctcgtggcgtga	5	6	15	15	7	0	1	0	1	0	0	2	3	1	2	3	3	2	2	3	3	1	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr16:67197703A>G	ENST00000258200.3	+	3	1282	c.1105A>G	c.(1105-1107)Agg>Ggg	p.R369G	HSF4_ENST00000584272.1_5'Flank|RP11-5A19.5_ENST00000518227.1_Silent_p.G31G|HSF4_ENST00000421453.1_5'UTR|FBXL8_ENST00000519917.1_Missense_Mutation_p.R369G|HSF4_ENST00000264009.8_5'UTR|HSF4_ENST00000521374.1_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	369										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		GCATCCCTGGAGGCCTACGCT	0.697																																																	0													23	26	25					16																	67197703		2185	4283	6468	SO:0001583	missense	0			AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"F-boxes / Leucine-rich repeats"	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.1105A>G	16.37:g.67197703A>G	ENSP00000258200:p.Arg369Gly		Q9NUM0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R369G	ENST00000258200.3	37	c.1105	CCDS10831.1	16	.	.	.	.	.	.	.	.	.	.	A	8.307	0.821294	0.16678	.	.	ENSG00000135722	ENST00000258200;ENST00000519917	.	.	.	4.23	0.917	0.19380	.	0.362265	0.19065	N	0.123679	T	0.48333	0.1494	L	0.50333	1.59	0.80722	D	1	B	0.31100	0.308	B	0.26517	0.07	T	0.51872	-0.8650	9	0.59425	D	0.04	-7.9042	12.4222	0.55525	0.6502:0.3497:0.0:0.0	.	369	Q96CD0	FBXL8_HUMAN	G	369	.	ENSP00000258200:R369G	R	+	1	2	FBXL8	65755204	0.995000	0.38212	1.000000	0.80357	0.149000	0.21700	0.706000	0.25690	0.416000	0.25844	-0.384000	0.06662	AGG	FBXL8	-	NULL	ENSG00000135722		0.697	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL8	HGNC	protein_coding	OTTHUMT00000268834.2		0	30	0	A			67197703	1			no_errors	ENST00000258200	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.995	G	G	67197703	A	G	67197703	3	3	50	1	0	0	0	0	1	0	0	0	5747	295	11	4	1111	4	FBXL8	16	67197703	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	13671079	67197703	23157050	100	12046											
OSGIN1	29948	genome.wustl.edu	37	chr16	83992949	83992949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgccatccacccacaccCcctgctgcagaggaagctca	11	5	8	17	0	1	2	1	0	0	2	2	3	2	3	5	1	4	3	5	1	1	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr16:83992949C>A	ENST00000343939.2	+	4	784	c.401C>A	c.(400-402)cCc>cAc	p.P134H	OSGIN1_ENST00000393306.1_Missense_Mutation_p.P51H|OSGIN1_ENST00000361711.3_Missense_Mutation_p.P51H|OSGIN1_ENST00000565123.1_Missense_Mutation_p.P51H			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	134					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CACCCACACCCCCTGCTGCAG	0.647																																																	0													100	88	92					16																	83992949		2200	4300	6500	SO:0001583	missense	0			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.401C>A	16.37:g.83992949C>A	ENSP00000343376:p.Pro134His		Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.P51H	ENST00000343939.2	37	c.152		16	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818264	0.50633	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.24908	2.78;1.83;1.83	4.66	4.66	0.58398	.	0.179120	0.49916	D	0.000133	T	0.20251	0.0487	L	0.34521	1.04	0.37412	D	0.913294	P	0.41313	0.745	B	0.35278	0.199	T	0.13899	-1.0492	10	0.39692	T	0.17	-5.5315	16.5258	0.84330	0.0:1.0:0.0:0.0	.	134	Q9UJX0	OSGI1_HUMAN	H	134;51;51	ENSP00000343376:P134H;ENSP00000355374:P51H;ENSP00000376983:P51H	ENSP00000343376:P134H	P	+	2	0	OSGIN1	82550450	0.997000	0.39634	0.975000	0.42487	0.438000	0.31896	3.772000	0.55325	2.147000	0.66899	0.205000	0.17691	CCC	OSGIN1	-	NULL	ENSG00000140961		0.647	OSGIN1-001	PUTATIVE	basic	protein_coding	OSGIN1	HGNC	protein_coding	OTTHUMT00000269081.1		0	18	0	C	NM_013370		83992949	1			no_errors	ENST00000361711	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.986	A	A	83992949	C	A	83992949	3	1	50	1	0	0	0	0	1	0	0	0	11328	623	22	3	415	3	OSGIN1	16	83992949	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	16795246	83992949	6361804	101	12047											
TUSC5	286753	genome.wustl.edu	37	chr17	1198846	1198846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgggccgcctggctcGgctgctcagcattaccctca	5	8	13	15	2	2	0	2	0	0	0	3	1	2	0	3	4	3	5	3	4	1	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:1198846G>A	ENST00000333813.3	+	2	788	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	150					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCTGGCTCGGCTGCTCAGC	0.617																																																	0													83	100	94					17																	1198846		2118	4240	6358	SO:0001583	missense	0			AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"located at seventeen p thirteen point three 1", "interferon induced transmembrane protein domain containing 3"	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.449G>A	17.37:g.1198846G>A	ENSP00000329548:p.Arg150Gln		A6NMK4	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.R150Q	ENST00000333813.3	37	c.449	CCDS42225.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992625	0.74703	.	.	ENSG00000184811	ENST00000333813	D	0.86769	-2.17	5.56	5.56	0.83823	.	0.078682	0.46442	U	0.000291	D	0.92622	0.7656	M	0.80183	2.485	0.37960	D	0.932956	D	0.76494	0.999	P	0.60949	0.881	D	0.93941	0.7223	10	0.54805	T	0.06	-10.9276	16.2486	0.82467	0.0:0.0:1.0:0.0	.	150	Q8IXB3	TUSC5_HUMAN	Q	150	ENSP00000329548:R150Q	ENSP00000329548:R150Q	R	+	2	0	TUSC5	1145596	0.367000	0.25023	1.000000	0.80357	0.994000	0.84299	2.790000	0.47821	2.629000	0.89072	0.609000	0.83330	CGG	TUSC5	-	pfam_CD225/Dispanin_fam	ENSG00000184811		0.617	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUSC5	HGNC	protein_coding	OTTHUMT00000255249.1	-	0	57	0	G	NM_172367		1198846	1	tier1	-	no_errors	ENST00000333813	ensembl	human	known	74_37	missense	12.90	53	8	SNP	0.924	A	A	1198846	G	A	1198846	3	1	50	1	0	0	0	0	1	0	0	0	16828	1116	39	1	455	1	TUSC5	17	1198846	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09		1198846	79996364	102	12048											
CD68	968	genome.wustl.edu	37	chr17	7483026	7483026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcttttctcgggggccCtgctggggctactggcaggt	2	12	16	11	1	1	0	0	0	1	0	2	0	1	0	1	6	3	4	1	6	1	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:7483026C>T	ENST00000250092.6	+	1	242	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	AC113189.5_ENST00000572046.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000415124.1_RNA|SNORD10_ENST00000459579.1_RNA|AC113189.5_ENST00000417897.1_RNA|CD68_ENST00000380498.6_Silent_p.L11L|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000573187.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	11					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						CTCGGGGGCCCTGCTGGGGCT	0.637																																																	0													30	30	30					17																	7483026		2203	4299	6502	SO:0001819	synonymous_variant	0			S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"CD molecules"	1693	protein-coding gene	gene with protein product	"scavenger receptor class D, member 1", "CD68 antigen", "macrophage antigen CD68"	153634	"CD68 antigen"			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.31C>T	17.37:g.7483026C>T			B4DVT4|Q53HR6|Q53XI3|Q96BI7	Silent	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.L11	ENST00000250092.6	37	c.31	CCDS11114.1	17																																																																																			CD68	-	NULL	ENSG00000129226		0.637	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD68	HGNC	protein_coding	OTTHUMT00000226949.3	-	0	78	0	C	NM_001251		7483026	1	tier1	-	no_errors	ENST00000250092	ensembl	human	known	74_37	silent	31.11	31	14	SNP	0.092	T	T	7483026	C	T	7483026	2	4	50	1	0	0	0	0	0	0	0	1	3037	680	24	3		3	CD68	17	7483026	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	6284180	7483026	73712184	103	12049											
TP53	7157	genome.wustl.edu	37	chr17	7578526	7578527	+	Frame_Shift_Ins	INS	-	-	A																															gcaggtcttggccagttggcINSaaaacatcttgttgagggca																								rs587781991		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:7578526_7578527insA	ENST00000269305.4	-	5	592_593	c.403_404insT	c.(403-405)tgcfs	p.C135fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.C135fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.C135fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.C135fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.C135fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.C135fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(12)|p.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.C135fs*14(2)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.C42R(1)|p.M133fs*13(1)|p.C3S(1)|p.C3R(1)|p.F134fs*14(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTTG	0.569		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	182	Substitution - Missense(149)|Deletion - Frameshift(15)|Whole gene deletion(8)|Insertion - Frameshift(5)|Deletion - In frame(4)|Complex - deletion inframe(1)	large_intestine(22)|breast(20)|haematopoietic_and_lymphoid_tissue(19)|oesophagus(18)|upper_aerodigestive_tract(14)|urinary_tract(13)|lung(11)|prostate(11)|ovary(10)|central_nervous_system(7)|liver(7)|bone(6)|biliary_tract(5)|stomach(5)|pancreas(3)|skin(2)|autonomic_ganglia(2)|soft_tissue(2)|kidney(1)|eye(1)|NS(1)|penis(1)|pituitary(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404dupT	17.37:g.7578530_7578530dupA	ENSP00000269305:p.Cys135fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135fs	ENST00000269305.4	37	c.404_403	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	40	0	-	NM_000546		7578527	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	48.57	18	17	INS	1.000:1.000	A	A	7578527	-	A	7578526	7	5	50	1	0	1	1	0	0	0	0	0	16429	710	25	0	894	0	TP53	17	7578526	Frame_Shift_Ins	INS	-	TCGA-L5-A43H-01A-11D-A247-09	95500	7578526	73616684	104	12050											
SDF2	6388	genome.wustl.edu	37	chr17	26976284	26976284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccttcctcaccaaaaGcactcacttcctagaaaata	14	10	2	15	0	3	1	3	0	0	1	5	1	5	1	4	0	1	1	4	0	6	5			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:26976284G>A	ENST00000247020.4	-	3	657	c.359C>T	c.(358-360)gCt>gTt	p.A120V	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	120	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CTCACCAAAAGCACTCACTTC	0.483																																																	0													86	80	82					17																	26976284		2203	4300	6503	SO:0001583	missense	0			BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.359C>T	17.37:g.26976284G>A	ENSP00000247020:p.Ala120Val		Q9BQ79	Missense_Mutation	SNP	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	p.A120V	ENST00000247020.4	37	c.359	CCDS11238.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.325425	0.95708	.	.	ENSG00000132581	ENST00000247020	D	0.84516	-1.86	5.65	5.65	0.86999	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.93983	0.8073	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94184	0.7434	10	0.72032	D	0.01	-14.9382	20.1613	0.98135	0.0:0.0:1.0:0.0	.	120	Q99470	SDF2_HUMAN	V	120	ENSP00000247020:A120V	ENSP00000247020:A120V	A	-	2	0	SDF2	24000411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.407000	0.97325	2.835000	0.97688	0.650000	0.86243	GCT	SDF2	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	ENSG00000132581		0.483	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDF2	HGNC	protein_coding	OTTHUMT00000255965.2	-	0	53	0	G	NM_006923		26976284	-1	tier1	-	no_errors	ENST00000247020	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	A	A	26976284	G	A	26976284	3	1	50	1	0	0	0	0	1	0	0	0	14005	971	34	3	280	3	SDF2	17	26976284	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	19397758	26976284	54218926	105	12051											
TMIGD1	388364	genome.wustl.edu	37	chr17	28645840	28645840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagataccttcattattttCtttcttctagcaatcagtcc	9	19	3	10	0	5	1	2	0	3	1	6	1	6	1	2	0	2	1	2	0	5	9			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:28645840C>G	ENST00000328886.4	-	5	804	c.732G>C	c.(730-732)aaG>aaC	p.K244N	TMIGD1_ENST00000538566.2_Intron	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	244						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						TCATTATTTTCTTTCTTCTAG	0.353																																																	0													123	116	118					17																	28645840		2203	4300	6503	SO:0001583	missense	0			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.732G>C	17.37:g.28645840C>G	ENSP00000332404:p.Lys244Asn		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K244N	ENST00000328886.4	37	c.732	CCDS32605.1	17	.	.	.	.	.	.	.	.	.	.	C	7.681	0.689088	0.14973	.	.	ENSG00000182271	ENST00000328886	T	0.65916	-0.18	5.25	-5.45	0.02616	.	1.181090	0.05817	N	0.615104	T	0.52645	0.1747	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43669	-0.9377	10	0.39692	T	0.17	0.1966	7.4145	0.27036	0.0:0.2534:0.4893:0.2573	.	244	Q6UXZ0	TMIG1_HUMAN	N	244	ENSP00000332404:K244N	ENSP00000332404:K244N	K	-	3	2	TMIGD1	25669966	0.020000	0.18652	0.049000	0.19019	0.852000	0.48524	-0.933000	0.03959	-1.027000	0.03325	-0.345000	0.07892	AAG	TMIGD1	-	NULL	ENSG00000182271		0.353	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIGD1	HGNC	protein_coding	OTTHUMT00000447955.1		0	25	0	C	NM_206832		28645840	-1			no_errors	ENST00000328886	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.019	G	G	28645840	C	G	28645840	3	3	50	1	0	0	0	0	1	0	0	0	16277	912	32	5	68	5	TMIGD1	17	28645840	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	1669556	28645840	52549370	106	12052											
FBXL20	84961	genome.wustl.edu	37	chr17	37437666	37437666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtctgcaagttcaaagtCaccagttcagggcagtgtgc	11	9	11	10	0	4	0	3	0	1	0	4	0	4	0	1	1	2	4	1	1	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:37437666C>T	ENST00000264658.6	-	9	932	c.672G>A	c.(670-672)gtG>gtA	p.V224V	FBXL20_ENST00000394294.3_Silent_p.V192V|FBXL20_ENST00000577399.1_Silent_p.V226V|FBXL20_ENST00000583610.1_Silent_p.V224V	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	224					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGTTCAAAGTCACCAGTTCAG	0.333																																																	0													98	96	97					17																	37437666		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"F-boxes / Leucine-rich repeats"	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.672G>A	17.37:g.37437666C>T			A8K729|Q38J52	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.V224	ENST00000264658.6	37	c.672	CCDS32640.1	17																																																																																			FBXL20	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000108306		0.333	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL20	HGNC	protein_coding	OTTHUMT00000444315.2	-	0	20	0	C	NM_032875		37437666	-1	tier1	-	no_errors	ENST00000264658	ensembl	human	known	74_37	silent	27.27	16	6	SNP	1.000	T	T	37437666	C	T	37437666	2	4	50	1	0	0	0	0	0	0	0	1	5739	813	29	3		3	FBXL20	17	37437666	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	8791826	37437666	43757544	107	12053											
GPATCH8	23131	genome.wustl.edu	37	chr17	42552208	42552208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatcttaccgattctatagGcttgtcaagtgacgcttgtt	8	17	8	8	2	3	1	1	1	2	0	3	2	3	1	1	1	1	3	1	1	5	8			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:42552208G>T	ENST00000591680.1	-	2	139	c.109C>A	c.(109-111)Cct>Act	p.P37T	GPATCH8_ENST00000592154.1_Missense_Mutation_p.P37T|GPATCH8_ENST00000434000.1_5'UTR|GPATCH8_ENST00000588554.1_Missense_Mutation_p.P37T	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	37							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GATTCTATAGGCTTGTCAAGT	0.363																																																	0													107	85	92					17																	42552208		2202	4299	6501	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.109C>A	17.37:g.42552208G>T	ENSP00000467556:p.Pro37Thr		B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.P37T	ENST00000591680.1	37	c.109	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120918	0.77436	.	.	ENSG00000186566	ENST00000335500;ENST00000541307	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	T	0.68035	0.2957	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69537	-0.5119	9	0.72032	D	0.01	-14.575	20.193	0.98233	0.0:0.0:1.0:0.0	.	37	Q9UKJ3	GPTC8_HUMAN	T	37	.	ENSP00000335486:P37T	P	-	1	0	GPATCH8	39907734	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.706000	0.98722	2.941000	0.99782	0.655000	0.94253	CCT	GPATCH8	-	NULL	ENSG00000186566		0.363	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	-	0	54	0	G	NM_001002909		42552208	-1	tier1	-	no_errors	ENST00000591680	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	42552208	G	T	42552208	3	4	50	1	0	0	0	0	1	0	0	0	6620	1203	42	3	4427	3	GPATCH8	17	42552208	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	5114542	42552208	38643002	108	12054											
KPNB1	3837	genome.wustl.edu	37	chr17	45750492	45750492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccagaaaacgactttGgtcatcatggaacgactgca	12	9	10	10	2	2	1	2	0	0	1	3	4	3	2	1	2	3	2	1	2	3	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr17:45750492G>T	ENST00000290158.4	+	13	2063	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	KPNB1_ENST00000537679.1_Missense_Mutation_p.L336F|KPNB1_ENST00000540627.1_Missense_Mutation_p.L407F|KPNB1_ENST00000535458.2_Missense_Mutation_p.L407F	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	552					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L552F(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAACGACTTTGGTCATCATGG	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											125	119	121					17																	45750492		2203	4300	6503	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1656G>T	17.37:g.45750492G>T	ENSP00000290158:p.Leu552Phe		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.L552F	ENST00000290158.4	37	c.1656	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.52	-2.18	0.07037	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	L	0.50333	1.59	0.38797	D	0.955109	P;P	0.46784	0.884;0.776	B;B	0.40782	0.34;0.198	T	0.60301	-0.7290	9	0.56958	D	0.05	-16.5928	7.3697	0.26794	0.4933:0.1129:0.3938:0.0	.	336;552	F5H4R7;Q14974	.;IMB1_HUMAN	F	407;552;407;336	ENSP00000438253:L407F;ENSP00000290158:L552F;ENSP00000438964:L407F;ENSP00000445006:L336F	ENSP00000290158:L552F	L	+	3	2	KPNB1	43105491	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	1.490000	0.35573	-0.010000	0.14271	0.655000	0.94253	TTG	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.463	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	-	0	57	0	G	NM_002265		45750492	1	tier1	-	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.952	T	T	45750492	G	T	45750492	3	4	50	1	0	0	0	0	1	0	0	0	8462	1339	47	3	1706	3	KPNB1	17	45750492	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	3198284	45750492	35444718	109	12055											
ZNF177	7730	genome.wustl.edu	37	chr19	9492426	9492426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttataatgcacaagcgaatCcacaatggccagaaactcca	16	7	6	12	1	0	1	0	0	0	1	2	2	2	1	3	1	3	1	3	1	6	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:9492426C>T	ENST00000589262.1	+	6	1485	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000541595.2_Silent_p.I313I|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000434737.2_Silent_p.I473I|ZNF177_ENST00000343499.4_Silent_p.I313I|ZNF177_ENST00000602738.1_Silent_p.I313I	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	473					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						ACAAGCGAATCCACAATGGCC	0.433																																																	0													144	152	149					19																	9492426		2203	4299	6502	SO:0001819	synonymous_variant	0			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.1419C>T	19.37:g.9492426C>T			B4DY57|E9PDG0|I3L0I4|Q96ER2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I473	ENST00000589262.1	37	c.1419	CCDS54214.1	19																																																																																			ZNF177	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188629		0.433	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	-	0	12	0	C	NM_003451		9492426	1	tier1	-	no_errors	ENST00000434737	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.039	T	T	9492426	C	T	9492426	2	4	50	1	0	0	0	0	0	0	0	1	17794	845	30	3		3	ZNF177	19	9492426	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		9492426	49636557	110	12056											
ZNF562	54811	genome.wustl.edu	37	chr19	9763776	9763776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctattgaaggctttcccaCattccttacactgatagggt	10	14	7	10	0	1	2	0	2	1	0	3	2	3	2	2	2	1	1	2	2	4	6			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:9763776C>T	ENST00000448622.1	-	6	1292	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	ZNF562_ENST00000541032.1_Missense_Mutation_p.C340Y|ZNF562_ENST00000537617.1_Missense_Mutation_p.C261Y|ZNF562_ENST00000453792.2_Missense_Mutation_p.C308Y|ZNF562_ENST00000453372.2_Missense_Mutation_p.C377Y|ZNF562_ENST00000590155.1_Missense_Mutation_p.C376Y|ZNF562_ENST00000293648.4_Missense_Mutation_p.C305Y	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						GGCTTTCCCACATTCCTTACA	0.423																																																	0													135	127	130					19																	9763776		2203	4300	6503	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1130G>A	19.37:g.9763776C>T	ENSP00000411784:p.Cys377Tyr		Q32MN2|Q9NXS5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C377Y	ENST00000448622.1	37	c.1130	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745737	0.69418	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	1.67	0.601	0.17529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93298	0.7864	H	0.97051	3.93	0.38169	D	0.939276	D;D;D;D;D	0.89917	0.995;0.996;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.991;0.992;0.998;0.996;0.995	D	0.91009	0.4848	9	0.87932	D	0	.	6.1011	0.20047	0.0:0.8177:0.0:0.1823	.	261;376;340;377;305	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	Y	377;377;305;340;308;261	ENSP00000410734:C377Y;ENSP00000411784:C377Y;ENSP00000293648:C305Y;ENSP00000442614:C340Y;ENSP00000440451:C308Y;ENSP00000445816:C261Y	ENSP00000293648:C305Y	C	-	2	0	ZNF562	9624776	1.000000	0.71417	0.138000	0.22173	0.920000	0.55202	6.198000	0.72106	0.258000	0.21686	0.313000	0.20887	TGT	ZNF562	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.423	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0	75	0	C	NM_017656		9763776	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	9763776	C	T	9763776	3	4	50	1	0	0	0	0	1	0	0	0	18041	478	17	3	154	3	ZNF562	19	9763776	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	271350	9763776	49365207	111	12057											
CALR	811	genome.wustl.edu	37	chr19	13054411	13054411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgatgaggcatacgctgagGagtttggcaacgagacgtgg	11	7	16	7	4	0	3	0	2	0	1	0	6	0	4	0	4	2	4	0	4	2	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:13054411G>A	ENST00000316448.5	+	8	1094	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	RAD23A_ENST00000541222.1_5'Flank|RAD23A_ENST00000586534.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000592268.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	341	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	ATACGCTGAGGAGTTTGGCAA	0.592																																																	0													155	121	132					19																	13054411		2203	4300	6503	SO:0001583	missense	0			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1021G>A	19.37:g.13054411G>A	ENSP00000320866:p.Glu341Lys		Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pirsf_Calreticulin,pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex	p.E341K	ENST00000316448.5	37	c.1021	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490114	0.12702	.	.	ENSG00000179218	ENST00000316448;ENST00000539083	T	0.48201	0.82	5.27	4.22	0.49857	Concanavalin A-like lectin/glucanase (1);	0.103112	0.64402	D	0.000005	T	0.23014	0.0556	N	0.04116	-0.275	0.80722	D	1	B	0.17268	0.021	B	0.12156	0.007	T	0.16424	-1.0403	10	0.02654	T	1	-31.1888	14.747	0.69496	0.0:0.146:0.854:0.0	.	341	P27797	CALR_HUMAN	K	341;220	ENSP00000320866:E341K	ENSP00000320866:E341K	E	+	1	0	CALR	12915411	1.000000	0.71417	0.992000	0.48379	0.784000	0.44337	5.570000	0.67398	1.195000	0.43115	0.561000	0.74099	GAG	CALR	-	pirsf_Calreticulin,superfamily_ConA-like_lec_gl_sf	ENSG00000179218		0.592	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1		0	61	0	G	NM_004343		13054411	1			no_errors	ENST00000316448	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	13054411	G	A	13054411	3	1	50	1	0	0	0	0	1	0	0	0	2599	1175	41	3	1051	3	CALR	19	13054411	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	3290635	13054411	46074572	112	12058											
NOTCH3	4854	genome.wustl.edu	37	chr19	15292541	15292541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcgcatcgtgggccggCgaaaccagggaggcaggagc	8	2	20	11	5	0	0	0	0	0	0	1	3	0	2	2	6	2	2	2	6	1	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:15292541C>T	ENST00000263388.2	-	17	2713	c.2638G>A	c.(2638-2640)Gcc>Acc	p.A880T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	880	EGF-like 22; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTGGGCCGGCGAAACCAGGG	0.677																																																	0													33	28	30					19																	15292541		2184	4290	6474	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.2638G>A	19.37:g.15292541C>T	ENSP00000263388:p.Ala880Thr		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A880T	ENST00000263388.2	37	c.2638	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	7.937	0.741933	0.15642	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.91686	-2.89	5.45	-0.162	0.13367	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32190	N	0.006458	T	0.66257	0.2771	N	0.00754	-1.215	0.09310	N	0.999999	B;B	0.13594	0.003;0.008	B;B	0.14023	0.008;0.01	T	0.61845	-0.6979	10	0.11182	T	0.66	.	0.3536	0.00353	0.1908:0.3018:0.1881:0.3193	.	831;880	Q59FL3;Q9UM47	.;NOTC3_HUMAN	T	880;830	ENSP00000263388:A880T	ENSP00000263388:A880T	A	-	1	0	NOTCH3	15153541	0.000000	0.05858	0.118000	0.21660	0.462000	0.32619	0.009000	0.13219	0.609000	0.30018	0.561000	0.74099	GCC	NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.677	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	166	0	C	NM_000435		15292541	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	7.14	117	9	SNP	0.203	T	T	15292541	C	T	15292541	3	4	50	1	0	0	0	0	1	0	0	0	10589	768	27	1	4395	1	NOTCH3	19	15292541	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	2238130	15292541	43836442	113	12059											
GPI	2821	genome.wustl.edu	37	chr19	34890655	34890655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagatcttcgttcagggCatcatctgggacatcaacag	12	9	9	11	1	5	1	3	0	2	1	6	2	5	2	0	2	1	2	0	2	2	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:34890655C>T	ENST00000356487.5	+	17	1747	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G	RP11-618P17.4_ENST00000606020.1_5'Flank|GPI_ENST00000415930.3_Silent_p.G513G|GPI_ENST00000586425.1_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	502					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TCGTTCAGGGCATCATCTGGG	0.547																																																	0													113	105	107					19																	34890655		2203	4300	6503	SO:0001819	synonymous_variant	0			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"glucose phosphate isomerase"			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1506C>T	19.37:g.34890655C>T			B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.G513	ENST00000356487.5	37	c.1539	CCDS12437.1	19																																																																																			GPI	-	pfam_G6P_Isomerase,prints_G6P_Isomerase	ENSG00000105220		0.547	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	-	0	85	0	C			34890655	1	tier1	-	no_errors	ENST00000415930	ensembl	human	known	74_37	silent	29.76	59	25	SNP	0.900	T	T	34890655	C	T	34890655	2	4	50	1	0	0	0	0	0	0	0	1	6637	697	25	3		3	GPI	19	34890655	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	19598114	34890655	24238328	114	12060											
SBSN	374897	genome.wustl.edu	37	chr19	36018103	36018103	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctctgtttccttcccaaActgactggcagcatggtgga	7	13	9	12	0	1	1	0	1	1	0	4	2	3	2	2	3	2	3	2	3	1	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:36018103A>C	ENST00000452271.2	-	1	1109	c.1081T>G	c.(1081-1083)Ttt>Gtt	p.F361V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	361	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCTTCCCAAACTGACTGGCA	0.592																																																	0													48	48	48					19																	36018103		692	1591	2283	SO:0001583	missense	0			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1081T>G	19.37:g.36018103A>C	ENSP00000430242:p.Phe361Val		A8K5J0|E9PBV3	Missense_Mutation	SNP	NULL	p.F361V	ENST00000452271.2	37	c.1081	CCDS54253.1	19	.	.	.	.	.	.	.	.	.	.	a	0.098	-1.155852	0.01686	.	.	ENSG00000189001	ENST00000452271	T	0.39406	1.08	4.43	-3.48	0.04739	.	.	.	.	.	T	0.13372	0.0324	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13953	-1.0490	9	0.52906	T	0.07	.	1.471	0.02416	0.1398:0.3796:0.1326:0.348	.	361	E9PBV3	.	V	361	ENSP00000430242:F361V	ENSP00000430242:F361V	F	-	1	0	SBSN	40709943	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.563000	0.05943	-0.646000	0.05452	-2.120000	0.00349	TTT	SBSN	-	NULL	ENSG00000189001		0.592	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3		0	113	0	A	NM_198538		36018103	-1			no_errors	ENST00000452271	ensembl	human	novel	74_37	missense	5.26	90	5	SNP	0.001	C	C	36018103	A	C	36018103	3	2	50	1	0	0	0	0	1	0	0	0	13909	43	2	4	707	4	SBSN	19	36018103	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	1127448	36018103	23110880	115	12061											
ZNF793	390927	genome.wustl.edu	37	chr19	38023343	38023343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagagggccctgtaccGggatgtgatgctggaaacct	8	9	14	10	1	1	2	1	1	0	1	1	4	1	4	3	3	4	3	3	3	2	1	rs371262002	byFrequency	TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:38023343G>T	ENST00000587143.1	+	4	336	c.101G>T	c.(100-102)cGg>cTg	p.R34L	ZNF793_ENST00000542455.1_Missense_Mutation_p.R34L|ZNF793_ENST00000587986.1_Missense_Mutation_p.R34L|ZNF793_ENST00000589319.1_Missense_Mutation_p.R34L|ZNF793_ENST00000445217.1_Missense_Mutation_p.R34L|ZNF793_ENST00000588578.1_Missense_Mutation_p.R34L			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCCTGTACCGGGATGTGATG	0.488													G|||	2	0.000399361	0.0015	0	5008	,	,		19529	0		0	False		,,,				2504	0				Melanoma(44;400 1431 1499 19093)												0													68	71	70					19																	38023343		2192	4300	6492	SO:0001583	missense	0			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"Zinc fingers, C2H2-type", "-"	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.101G>T	19.37:g.38023343G>T	ENSP00000468605:p.Arg34Leu		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R34L	ENST00000587143.1	37	c.101	CCDS46062.1	19	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714199	0.68730	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.02709	4.19;4.19	3.53	1.28	0.21552	Krueppel-associated box (4);	.	.	.	.	T	0.09512	0.0234	M	0.82923	2.615	0.25937	N	0.982926	D;D	0.57257	0.979;0.979	P;P	0.56563	0.801;0.801	T	0.13176	-1.0519	9	0.59425	D	0.04	.	4.2049	0.10485	0.1359:0.2442:0.62:0.0	.	34;34	Q6ZN11;E9PGN4	ZN793_HUMAN;.	L	34;34;34;33	ENSP00000444355:R34L;ENSP00000396402:R34L	ENSP00000318811:R33L	R	+	2	0	ZNF793	42715183	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.259000	0.32956	0.760000	0.33108	0.563000	0.77884	CGG	ZNF793	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188227		0.488	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	-	0	69	0	G	NM_001013659		38023343	1	tier1	-	no_errors	ENST00000445217	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	38023343	G	T	38023343	3	4	50	1	0	0	0	0	1	0	0	0	18213	1116	39	2	107	2	ZNF793	19	38023343	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	2005240	38023343	21105640	116	12062											
SUPT5H	6829	genome.wustl.edu	37	chr19	39959492	39959492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcaagagcttcgccatGtctgctgtggtgagggtccc	5	12	13	11	1	2	2	1	1	1	1	4	2	3	2	2	2	2	3	2	2	1	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:39959492G>T	ENST00000599117.1	+	15	1501	c.1134G>T	c.(1132-1134)atG>atT	p.M378I	SUPT5H_ENST00000402194.2_Missense_Mutation_p.M374I|SUPT5H_ENST00000359191.6_Missense_Mutation_p.M374I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.M378I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.M378I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	378	Interaction with RNA polymerase II.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTTCGCCATGTCTGCTGTGG	0.577																																																	0													82	79	80					19																	39959492		2203	4300	6503	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1134G>T	19.37:g.39959492G>T	ENSP00000470252:p.Met378Ile		O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.M378I	ENST00000599117.1	37	c.1134	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400436	0.42613	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	N	0.11131	0.1	0.80722	D	1	B;B;B	0.19583	0.011;0.037;0.022	B;B;B	0.24155	0.014;0.051;0.023	T	0.25047	-1.0143	8	.	.	.	-27.9673	17.7775	0.88514	0.0:0.0:1.0:0.0	.	170;374;378	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	I	378;374;356;378	.	.	M	+	3	0	SUPT5H	44651332	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.760000	0.85248	2.512000	0.84698	0.557000	0.71058	ATG	SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.577	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	-	0	24	0	G	NM_003169		39959492	1	tier1	-	no_errors	ENST00000432763	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	T	T	39959492	G	T	39959492	3	4	50	1	0	0	0	0	1	0	0	0	15446	1377	48	3	1184	3	SUPT5H	19	39959492	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	1936149	39959492	19169491	117	12063											
PSMC4	5704	genome.wustl.edu	37	chr19	40480482	40480482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggaggcatggacatccagaAgcaggaggtgcgggaggccg	10	3	19	9	3	0	1	0	0	0	1	1	5	1	5	2	7	2	2	2	7	1	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:40480482A>T	ENST00000157812.2	+	5	719	c.521A>T	c.(520-522)aAg>aTg	p.K174M	PSMC4_ENST00000455878.2_Missense_Mutation_p.K143M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GACATCCAGAAGCAGGAGGTG	0.642																																					Colon(105;1478 1543 4034 6132 38638)												0													63	67	66					19																	40480482		2203	4300	6503	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.521A>T	19.37:g.40480482A>T	ENSP00000157812:p.Lys174Met		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.K174M	ENST00000157812.2	37	c.521	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	a	13.45	2.241619	0.39598	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95756	-3.8;-3.8	5.04	0.0891	0.14457	.	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	M	0.70787	2.145	0.58432	D	0.999997	P;D	0.89917	0.929;1.0	P;D	0.79784	0.729;0.993	D	0.94289	0.7527	10	0.49607	T	0.09	-7.2275	9.9204	0.41462	0.4749:0.0:0.0:0.5251	.	143;174	P43686-2;P43686	.;PRS6B_HUMAN	M	174;143	ENSP00000157812:K174M;ENSP00000413869:K143M	ENSP00000157812:K174M	K	+	2	0	PSMC4	45172322	1.000000	0.71417	0.899000	0.35326	0.004000	0.04260	4.817000	0.62650	-0.054000	0.13266	-0.516000	0.04426	AAG	PSMC4	-	superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.642	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	-	0	18	0	A	NM_006503		40480482	1	tier1	-	no_errors	ENST00000157812	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.990	T	T	40480482	A	T	40480482	3	4	50	1	0	0	0	0	1	0	0	0	12731	72	3	5	539	5	PSMC4	19	40480482	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09	520990	40480482	18648501	118	12064											
IRGQ	126298	genome.wustl.edu	37	chr19	44097061	44097061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgccctcgccgtctgtgCgcacgcagacaagaggcgca	7	5	12	17	6	1	2	0	0	1	2	3	2	1	2	3	1	1	3	3	1	1	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:44097061C>T	ENST00000602269.1	-	2	1174	c.989G>A	c.(988-990)cGc>cAc	p.R330H	L34079.2_ENST00000594374.1_Missense_Mutation_p.R43H|IRGQ_ENST00000601520.1_5'UTR|IRGQ_ENST00000422989.1_Missense_Mutation_p.R330H			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	330	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCGTCTGTGCGCACGCAGAC	0.632																																																	0													128	124	125					19																	44097061		2203	4300	6503	SO:0001583	missense	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.989G>A	19.37:g.44097061C>T	ENSP00000472250:p.Arg330His		B2RNP3	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R330H	ENST00000602269.1	37	c.989	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765253	0.69878	.	.	ENSG00000167378	ENST00000422989	T	0.58358	0.34	4.26	4.26	0.50523	.	0.353444	0.19631	N	0.109661	T	0.67515	0.2901	M	0.68952	2.095	0.29488	N	0.855838	D	0.89917	1.0	D	0.79108	0.992	T	0.63260	-0.6677	10	0.72032	D	0.01	-25.8297	10.4901	0.44746	0.0:0.8034:0.1966:0.0	.	330	Q8WZA9	IRGQ_HUMAN	H	330	ENSP00000387535:R330H	ENSP00000387535:R330H	R	-	2	0	IRGQ	48788901	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.964000	0.49192	2.667000	0.90743	0.655000	0.94253	CGC	IRGQ	-	NULL	ENSG00000167378		0.632	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0	58	0	C	NM_001007561		44097061	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	missense	25.00	36	12	SNP	1.000	T	T	44097061	C	T	44097061	3	4	50	1	0	0	0	0	1	0	0	0	7866	768	27	1	886	1	IRGQ	19	44097061	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	3616579	44097061	15031922	119	12065											
ZNF229	7772	genome.wustl.edu	37	chr19	44946800	44946800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggctgaggcttgagaatGaagagctgtaggaggagaaa	15	7	16	3	0	0	5	0	3	0	3	0	8	0	6	0	4	1	4	0	4	5	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:44946800G>A	ENST00000588931.1	-	4	473	c.40C>T	c.(40-42)Cat>Tat	p.H14Y	ZNF229_ENST00000291187.4_Missense_Mutation_p.H14Y|ZNF229_ENST00000591289.1_5'UTR|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCTTGAGAATGAAGAGCTGTA	0.498																																																	0													106	103	104					19																	44946800		1906	4112	6018	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.40C>T	19.37:g.44946800G>A	ENSP00000466519:p.His14Tyr		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H14Y	ENST00000588931.1	37	c.40	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	6.017	0.371493	0.11409	.	.	ENSG00000167383	ENST00000291187	T	0.06687	3.27	2.99	0.847	0.18961	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.27594	0.182	B	0.28638	0.092	T	0.41734	-0.9492	9	0.49607	T	0.09	.	4.9178	0.13854	0.2917:0.0:0.7083:0.0	.	14	Q9UJW7	ZN229_HUMAN	Y	14	ENSP00000291187:H14Y	ENSP00000291187:H14Y	H	-	1	0	ZNF229	49638640	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-0.131000	0.10482	0.300000	0.22699	0.609000	0.83330	CAT	ZNF229	-	NULL	ENSG00000167383		0.498	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	-	0	75	0	G	NM_014518		44946800	-1	tier1	-	no_errors	ENST00000588931	ensembl	human	known	74_37	missense	23.44	49	15	SNP	0.000	A	A	44946800	G	A	44946800	3	1	50	1	0	0	0	0	1	0	0	0	17830	1290	45	3	2449	3	ZNF229	19	44946800	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	849739	44946800	14182183	120	12066											
SIGLEC10	89790	genome.wustl.edu	37	chr19	51918195	51918195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgttggcccagggccCggctgagctgggggtgacct	4	7	19	11	1	0	2	0	2	0	0	0	3	0	3	3	6	2	4	3	6	0	1	rs554914804		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:51918195C>T	ENST00000339313.5	-	8	1614	c.1498G>A	c.(1498-1500)Ggg>Agg	p.G500R	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G500R|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G442R|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	500					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCCCAGGGCCCGGCTGAGCTG	0.701													c|||	1	0.000199681	0	0	5008	,	,		15837	0.001		0	False		,,,				2504	0																0													30	34	33					19																	51918195		2203	4297	6500	SO:0001583	missense	0			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15620	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 10 Ig-like lectin 7", "siglec-like gene 2"	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1498G>A	19.37:g.51918195C>T	ENSP00000345243:p.Gly500Arg		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G500R	ENST00000339313.5	37	c.1498	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	11.48	1.651053	0.29336	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.86097	-2.07;-2.07;-2.07	4.83	3.79	0.43588	.	0.112809	0.40222	N	0.001143	D	0.92224	0.7534	M	0.90870	3.155	0.26172	N	0.979851	D;D	0.60160	0.985;0.987	P;P	0.60345	0.8;0.873	D	0.86550	0.1834	10	0.66056	D	0.02	.	12.1524	0.54057	0.0:0.9074:0.0:0.0926	.	442;500	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	R	500;442;500	ENSP00000348646:G500R;ENSP00000389132:G442R;ENSP00000345243:G500R	ENSP00000345243:G500R	G	-	1	0	SIGLEC10	56610007	0.804000	0.28969	0.520000	0.27837	0.033000	0.12548	1.431000	0.34925	0.468000	0.27243	-1.134000	0.01955	GGG	SIGLEC10	-	NULL	ENSG00000142512		0.701	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	-	0	109	0	C	NM_033130		51918195	-1	tier1	-	no_errors	ENST00000339313	ensembl	human	known	74_37	missense	18.52	43	10	SNP	0.728	T	T	51918195	C	T	51918195	3	4	50	1	0	0	0	0	1	0	0	0	14351	652	23	1	611	1	SIGLEC10	19	51918195	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	6971395	51918195	7210788	121	12067											
ZNF766	90321	genome.wustl.edu	37	chr19	52794164	52794164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttctccctgacagttcatCagagaaatcataatggagag	14	10	9	8	0	4	3	3	1	1	2	5	5	4	3	1	1	0	2	1	1	2	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:52794164C>T	ENST00000439461.1	+	4	1163	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	ZNF766_ENST00000593612.1_Nonsense_Mutation_p.Q389*|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Nonsense_Mutation_p.Q389*	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GACAGTTCATCAGAGAAATCA	0.398																																																	0													39	44	42					19																	52794164		2184	4289	6473	SO:0001587	stop_gained	0			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.1120C>T	19.37:g.52794164C>T	ENSP00000409652:p.Gln374*		B2RNE0|Q7Z326	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q389*	ENST00000439461.1	37	c.1165	CCDS46163.1	19	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944644	0.73672	.	.	ENSG00000196214	ENST00000439461;ENST00000359102	.	.	.	2.24	-4.47	0.03525	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	0.3186	0.00300	0.2415:0.2092:0.291:0.2584	.	.	.	.	X	374;389	.	ENSP00000352005:Q389X	Q	+	1	0	ZNF766	57485976	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.692000	0.05127	-0.613000	0.05694	-0.157000	0.13467	CAG	ZNF766	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196214		0.398	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF766	HGNC	protein_coding	OTTHUMT00000462764.1	-	0	22	0	C	NM_001010851		52794164	1	tier1	-	no_errors	ENST00000359102	ensembl	human	known	74_37	nonsense	14.81	23	4	SNP	0.007	T	T	52794164	C	T	52794164	4	4	50	1	0	0	0	0	0	1	0	0	18188	827	29	3	1134	3	ZNF766	19	52794164	Nonsense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	875969	52794164	6334819	122	12068											
LILRA3	11026	genome.wustl.edu	37	chr19	54802107	54802107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcggggaatcagctgcccCctccttggtcaaaaggaaag	11	6	12	12	1	2	0	2	0	0	0	3	2	3	2	3	4	3	1	3	4	4	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:54802107C>A	ENST00000251390.3	-	6	1172	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	LILRA3_ENST00000391744.3_Missense_Mutation_p.G297W|LILRA3_ENST00000391745.1_Missense_Mutation_p.G378W	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	361	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGCTGCCCCCTCCTTGGTC	0.602																																																	0													104	92	96					19																	54802107		2194	4160	6354	SO:0001583	missense	0			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1081G>T	19.37:g.54802107C>A	ENSP00000251390:p.Gly361Trp		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.G361W	ENST00000251390.3	37	c.1081	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590441	0.28357	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.01252	5.1;5.1;5.1	2.4	0.183	0.15082	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.639938	0.13182	N	0.407402	T	0.12860	0.0312	H	0.98936	4.375	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	T	0.06807	-1.0806	10	0.87932	D	0	.	4.5772	0.12240	0.0:0.6667:0.0:0.3333	.	361;361	E7EU74;Q8N6C8	.;LIRA3_HUMAN	W	361;297;378	ENSP00000251390:G361W;ENSP00000375624:G297W;ENSP00000375625:G378W	ENSP00000251390:G361W	G	-	1	0	LILRA3	59493919	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.479000	0.22228	0.136000	0.18733	0.586000	0.80456	GGG	LILRA3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000170866		0.602	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	-	0	153	0	C			54802107	-1	tier1	-	no_errors	ENST00000251390	ensembl	human	known	74_37	missense	8.33	77	7	SNP	0.002	A	A	54802107	C	A	54802107	3	1	50	1	0	0	0	0	1	0	0	0	8815	623	22	3	246	3	LILRA3	19	54802107	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	2007943	54802107	4326876	123	12069											
ZNF606	80095	genome.wustl.edu	37	chr19	58491630	58491630	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcaatgctttgctttCaagatttctcacccattctg	8	16	7	10	0	4	1	3	0	2	1	5	2	4	2	1	1	2	2	1	1	2	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr19:58491630C>A	ENST00000341164.4	-	7	1038	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	ZNF606_ENST00000536132.1_Nonsense_Mutation_p.E50*	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCTTTGCTTTCAAGATTTCTC	0.388																																																	0													98	91	93					19																	58491630		2203	4300	6503	SO:0001587	stop_gained	0			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"Zinc fingers, C2H2-type", "-"	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.418G>T	19.37:g.58491630C>A	ENSP00000343617:p.Glu140*		A8KAN2|Q8NE04|Q96JH5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E140*	ENST00000341164.4	37	c.418	CCDS12968.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.189901	0.94923	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	.	.	.	4.88	4.88	0.63580	.	0.000000	0.43579	D	0.000555	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	11.2726	0.49148	0.0:0.8156:0.1844:0.0	.	.	.	.	X	140;50;140	.	ENSP00000343617:E140X	E	-	1	0	ZNF606	63183442	0.199000	0.23386	0.979000	0.43373	0.954000	0.61252	0.447000	0.21710	2.519000	0.84933	0.655000	0.94253	GAA	ZNF606	-	NULL	ENSG00000166704		0.388	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	HGNC	protein_coding	OTTHUMT00000405961.1	-	0	40	0	C	NM_025027		58491630	-1	tier1	-	no_errors	ENST00000341164	ensembl	human	known	74_37	nonsense	14.55	47	8	SNP	0.956	A	A	58491630	C	A	58491630	4	1	50	1	0	0	0	0	0	1	0	0	18080	835	29	3	1964	3	ZNF606	19	58491630	Nonsense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	3689523	58491630	637353	124	12070											
PROKR2	128674	genome.wustl.edu	37	chr20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccccgctgggagggaCgccagtgcagcagcatcatc	7	6	13	15	2	1	0	1	0	0	0	3	2	2	2	3	2	4	5	3	2	0	0	rs576243101		TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr20:5282783C>T	ENST00000217270.3	-	2	1057	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000546004.1_Missense_Mutation_p.R353H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			C|||	1	0.000199681	8e-04	0	5008	,	,		24072	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)											206	166	179					20																	5282783		2203	4300	6503	SO:0001583	missense	0			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.1058G>A	20.37:g.5282783C>T	ENSP00000217270:p.Arg353His		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R353H	ENST00000217270.3	37	c.1058	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999680	0.54147	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.38401	1.14;1.14	5.05	4.1	0.47936	.	0.060269	0.64402	D	0.000009	T	0.34048	0.0884	M	0.62723	1.935	0.49213	D	0.999764	P	0.49447	0.924	B	0.40038	0.317	T	0.23084	-1.0198	10	0.44086	T	0.13	.	11.623	0.51130	0.0:0.9101:0.0:0.0899	.	353	Q8NFJ6	PKR2_HUMAN	H	353	ENSP00000440790:R353H;ENSP00000217270:R353H	ENSP00000217270:R353H	R	-	2	0	PROKR2	5230783	0.141000	0.22595	0.989000	0.46669	0.516000	0.34256	0.683000	0.25349	2.370000	0.80446	0.655000	0.94253	CGT	PROKR2	-	NULL	ENSG00000101292		0.557	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	-	0	67	0	C	NM_144773		5282783	-1	tier1	-	no_errors	ENST00000217270	ensembl	human	known	74_37	missense	28.05	59	23	SNP	0.996	T	T	5282783	C	T	5282783	3	4	50	1	0	0	0	0	1	0	0	0	12595	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09		5282783	57742737	125	12071											
ASXL1	171023	genome.wustl.edu	37	chr20	30956919	30956919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgaatcagccttttcaCgctcaaggtaagtgatatga	11	11	10	9	2	3	2	3	2	0	0	3	3	3	2	2	2	1	2	2	2	4	4			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr20:30956919C>T	ENST00000375687.4	+	4	669	c.245C>T	c.(244-246)aCg>aTg	p.T82M	ASXL1_ENST00000306058.5_Missense_Mutation_p.T77M|ASXL1_ENST00000542461.1_Missense_Mutation_p.T81M|ASXL1_ENST00000375689.1_Missense_Mutation_p.T78M|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	82					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCCTTTTCACGCTCAAGGTA	0.453			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													150	130	137					20																	30956919		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.245C>T	20.37:g.30956919C>T	ENSP00000364839:p.Thr82Met		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.T82M	ENST00000375687.4	37	c.245	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363973	0.82353	.	.	ENSG00000171456	ENST00000358956;ENST00000542189;ENST00000375687;ENST00000542461;ENST00000421155;ENST00000412498;ENST00000375689;ENST00000306058	T;T	0.25749	1.8;1.78	5.22	5.22	0.72569	.	0.109069	0.64402	D	0.000007	T	0.47801	0.1465	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.42085	-0.9472	10	0.72032	D	0.01	-3.4035	15.8163	0.78604	0.0:1.0:0.0:0.0	.	77;82	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	M	82;82;82;81;82;72;78;77	ENSP00000364839:T82M;ENSP00000305119:T77M	ENSP00000305119:T77M	T	+	2	0	ASXL1	30420580	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.327000	0.72910	2.706000	0.92434	0.643000	0.83706	ACG	ASXL1	-	NULL	ENSG00000171456		0.453	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	53	0	C	NM_015338		30956919	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	T	T	30956919	C	T	30956919	3	4	50	1	0	0	0	0	1	0	0	0	1067	536	19	1	255	1	ASXL1	20	30956919	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	25674136	30956919	32068601	126	12072											
PROCR	10544	genome.wustl.edu	37	chr20	33764528	33764528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaagccgctcctacacttCgctggtcctgggcgtcctgg	6	9	11	15	3	0	0	0	0	0	0	4	0	3	0	4	3	3	2	4	3	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr20:33764528C>T	ENST00000216968.4	+	4	711	c.629C>T	c.(628-630)tCg>tTg	p.S210L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	210					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TCCTACACTTCGCTGGTCCTG	0.542																																																	0													89	70	76					20																	33764528		2203	4300	6503	SO:0001583	missense	0			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"CD molecules"	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.629C>T	20.37:g.33764528C>T	ENSP00000216968:p.Ser210Leu		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.S210L	ENST00000216968.4	37	c.629	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723607	0.48728	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.05258	3.47	5.75	4.62	0.57501	.	0.465718	0.20052	N	0.100262	T	0.03220	0.0094	N	0.19112	0.55	0.26331	N	0.977513	P	0.44659	0.84	B	0.21708	0.036	T	0.44590	-0.9318	10	0.48119	T	0.1	-5.9852	10.5268	0.44954	0.0:0.8996:0.0:0.1004	.	210	Q9UNN8	EPCR_HUMAN	L	210	ENSP00000216968:S210L	ENSP00000216968:S210L	S	+	2	0	PROCR	33228189	0.028000	0.19301	0.989000	0.46669	0.832000	0.47134	2.529000	0.45632	2.725000	0.93324	0.655000	0.94253	TCG	PROCR	-	NULL	ENSG00000101000		0.542	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3		0	46	0	C			33764528	1			no_errors	ENST00000216968	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.668	T	T	33764528	C	T	33764528	3	4	50	1	0	0	0	0	1	0	0	0	12589	893	31	1	643	1	PROCR	20	33764528	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	2807609	33764528	29260992	127	12073											
C20orf4	25980	genome.wustl.edu	37	chr20	34828331	34828331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcagaatctaccccgcTgtggcattgagtgcaaaagc	10	8	13	10	1	1	2	0	1	1	1	1	2	1	2	2	3	3	4	2	3	4	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr20:34828331T>C	ENST00000373932.3	+	2	887	c.541T>C	c.(541-543)Tgt>Cgt	p.C181R	AAR2_ENST00000397286.3_Missense_Mutation_p.C181R|AAR2_ENST00000320849.4_Missense_Mutation_p.C181R	NM_015511.3	NP_056326.2	Q9Y312	AAR2_HUMAN	AAR2 splicing factor homolog (S. cerevisiae)	181																	TCTACCCCGCTGTGGCATTGA	0.592																																																	0													79	81	80					20																	34828331		2203	4300	6503	SO:0001583	missense	0				CCDS13273.1	20q11.23	2012-07-20	2012-07-20	2012-07-20	ENSG00000131043	ENSG00000131043			15886	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 4"	C20orf4			Standard	NM_015511		Approved	bA234K24.2	uc002xfc.3	Q9Y312	OTTHUMG00000032380	ENST00000373932.3:c.541T>C	20.37:g.34828331T>C	ENSP00000363043:p.Cys181Arg		E1P5S7|Q9H4F9|Q9P1P3|Q9UFK9	Missense_Mutation	SNP	pfam_AAR2	p.C181R	ENST00000373932.3	37	c.541	CCDS13273.1	20	.	.	.	.	.	.	.	.	.	.	T	7.501	0.652625	0.14580	.	.	ENSG00000131043	ENST00000397286;ENST00000320849;ENST00000373932	T;T;T	0.39229	1.66;1.09;1.09	4.91	4.91	0.64330	.	0.196261	0.56097	D	0.000040	T	0.25005	0.0607	N	0.10782	0.045	0.21386	N	0.99971	B;B	0.22604	0.072;0.03	B;B	0.30401	0.115;0.035	T	0.18618	-1.0331	10	0.22706	T	0.39	.	10.2451	0.43336	0.0:0.0805:0.0:0.9195	.	181;181	A2A2Q9;Q9Y312	.;CT004_HUMAN	R	181	ENSP00000380455:C181R;ENSP00000313674:C181R;ENSP00000363043:C181R	ENSP00000313674:C181R	C	+	1	0	C20orf4	34291745	0.961000	0.32948	0.309000	0.25155	0.954000	0.61252	2.891000	0.48617	2.189000	0.69895	0.528000	0.53228	TGT	AAR2	-	pfam_AAR2	ENSG00000131043		0.592	AAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAR2	HGNC	protein_coding	OTTHUMT00000079001.2	-	0	36	0	T	NM_015511		34828331	1	tier1	-	no_errors	ENST00000320849	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.072	C	C	34828331	T	C	34828331	3	2	50	1	0	0	0	0	1	0	0	0	2118	1580	55	4	543	4	C20orf4	20	34828331	Missense_Mutation	SNP	T	TCGA-L5-A43H-01A-11D-A247-09	1063803	34828331	28197189	128	12074											
ZNF831	128611	genome.wustl.edu	37	chr20	57768323	57768323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtaggagccccctggtctCtccaaatgggaggctggaac	9	7	13	12	0	1	0	0	0	1	0	3	3	2	3	3	5	2	2	3	5	3	1			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr20:57768323C>T	ENST00000371030.2	+	1	2249	c.2249C>T	c.(2248-2250)tCt>tTt	p.S750F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	750							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCCTGGTCTCTCCAAATGGG	0.642																																																	0													18	21	20					20																	57768323		1935	4134	6069	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2249C>T	20.37:g.57768323C>T	ENSP00000360069:p.Ser750Phe		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S750F	ENST00000371030.2	37	c.2249	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478493	0.44044	.	.	ENSG00000124203	ENST00000371030	T	0.04917	3.53	4.95	4.0	0.46444	.	0.908741	0.09283	N	0.823498	T	0.06554	0.0168	L	0.27053	0.805	0.31373	N	0.679975	P	0.35982	0.531	B	0.35971	0.215	T	0.17992	-1.0351	10	0.66056	D	0.02	-0.1635	10.3465	0.43909	0.0:0.9089:0.0:0.0911	.	750	Q5JPB2	ZN831_HUMAN	F	750	ENSP00000360069:S750F	ENSP00000360069:S750F	S	+	2	0	ZNF831	57201718	0.147000	0.22687	0.154000	0.22540	0.031000	0.12232	1.418000	0.34782	1.064000	0.40671	0.551000	0.68910	TCT	ZNF831	-	NULL	ENSG00000124203		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	61	0	C	NM_178457		57768323	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	12.82	34	5	SNP	0.979	T	T	57768323	C	T	57768323	3	4	50	1	0	0	0	0	1	0	0	0	18233	913	32	3	2251	3	ZNF831	20	57768323	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	22939992	57768323	5257197	129	12075											
MED15	51586	genome.wustl.edu	37	chr22	20909285	20909285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagccgctggaattggcAtgcctcctcggggcccggga	5	6	17	13	4	0	0	0	0	0	0	2	3	1	3	4	6	2	2	4	6	1	1	rs148919404	byFrequency	TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr22:20909285A>G	ENST00000263205.7	+	5	370	c.301A>G	c.(301-303)Atg>Gtg	p.M101V	MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Missense_Mutation_p.M75V|MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.M101V|MED15_ENST00000541476.1_Missense_Mutation_p.M75V	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	101					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TGGAATTGGCATGCCTCCTCG	0.637																																																	0													45	47	47					22																	20909285		2203	4300	6503	SO:0001583	missense	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.301A>G	22.37:g.20909285A>G	ENSP00000263205:p.Met101Val		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	pfam_Mediator_Med15_met	p.M101V	ENST00000263205.7	37	c.301	CCDS33602.1	22	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687635	0.29962	.	.	ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000541476;ENST00000445189;ENST00000542312;ENST00000451058;ENST00000457322;ENST00000424287	T;D	0.85013	-0.88;-1.93	5.59	2.28	0.28536	Mediator complex, subunit Med15, metazoa (1);	0.338735	0.37095	N	0.002255	T	0.70806	0.3266	N	0.17474	0.49	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.001;0.002	T	0.61108	-0.7129	10	0.48119	T	0.1	.	7.104	0.25353	0.4239:0.493:0.0831:0.0	.	120;75;101;101	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;MED15_HUMAN	V	75;75;101;101;75;75;75;75;75;62;54	ENSP00000263205:M101V;ENSP00000396461:M54V	ENSP00000263205:M101V	M	+	1	0	MED15	19239285	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	2.048000	0.41278	0.401000	0.25424	-0.313000	0.08912	ATG	MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.637	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2		0	82	0	A	NM_015889		20909285	1			no_errors	ENST00000263205	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.995	G	G	20909285	A	G	20909285	3	3	50	1	0	0	0	0	1	0	0	0	9471	217	8	4	319	4	MED15	22	20909285	Missense_Mutation	SNP	A	TCGA-L5-A43H-01A-11D-A247-09		20909285	30395281	130	12076											
IGLL5	100423062	genome.wustl.edu	37	chr22	23235889	23235889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcccagcaggctcctgctCcagcccagcccccagagagc	8	4	10	19	0	0	1	0	0	0	1	2	2	2	1	6	1	6	3	6	1	0	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr22:23235889C>T	ENST00000526893.1	+	2	490	c.216C>T	c.(214-216)ctC>ctT	p.L72L	IGLL5_ENST00000531372.1_Intron|IGLL5_ENST00000532223.2_Silent_p.L73L|IGLC1_ENST00000390321.2_RNA|IGLJ1_ENST00000390320.2_RNA	NM_001178126.1	NP_001171597.1	B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	72						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						GGCTCCTGCTCCAGCCCAGCC	0.657																																																	0													38	43	42					22																	23235889		691	1590	2281	SO:0001819	synonymous_variant	0			M34518, M34515	CCDS54506.1	22q11.22	2013-01-11			ENSG00000254709	ENSG00000254709		"Immunoglobulin superfamily / C1-set domain containing"	38476	protein-coding gene	gene with protein product							Standard	NM_001178126		Approved		uc010gtu.3	B9A064	OTTHUMG00000165670	ENST00000526893.1:c.216C>T	22.37:g.23235889C>T				Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L73	ENST00000526893.1	37	c.219	CCDS54506.1	22																																																																																			IGLL5	-	NULL	ENSG00000254709		0.657	IGLL5-002	KNOWN	basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	IGLL5	HGNC	protein_coding	OTTHUMT00000385699.1	-	0	50	0	C	NM_001178126		23235889	1	tier1	-	no_errors	ENST00000532223	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.000	T	T	23235889	C	T	23235889	2	4	50	1	0	0	0	0	0	0	0	1	7621	842	30	3		3	IGLL5	22	23235889	Silent	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	2326604	23235889	28068677	131	12077											
RHBDD3	25807	genome.wustl.edu	37	chr22	29661510	29661510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggggccaggaccaggcCggggccggcccccaccagcc	5	1	15	20	3	0	0	0	0	0	0	1	1	1	1	9	7	1	0	9	7	0	0			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr22:29661510C>T	ENST00000216085.7	-	3	530	c.106G>A	c.(106-108)Ggc>Agc	p.G36S	EWSR1_ENST00000331029.7_5'Flank|EWSR1_ENST00000333395.6_5'Flank|EWSR1_ENST00000332050.6_5'Flank|EWSR1_ENST00000332035.6_5'Flank|EWSR1_ENST00000406548.1_5'Flank|EWSR1_ENST00000414183.2_5'Flank|EWSR1_ENST00000397938.2_5'Flank	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	36					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						AGGACCAGGCCGGGGCCGGCC	0.697																																																	0													16	19	18					22																	29661510		2200	4297	6497	SO:0001583	missense	0			AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 3"	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.106G>A	22.37:g.29661510C>T	ENSP00000216085:p.Gly36Ser		Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom,superfamily_UBA-like	p.G36S	ENST00000216085.7	37	c.106	CCDS13850.1	22	.	.	.	.	.	.	.	.	.	.	C	0.125	-1.121239	0.01785	.	.	ENSG00000100263	ENST00000216085;ENST00000414672;ENST00000406335	T;T;T	0.27557	1.66;1.66;1.66	4.18	3.14	0.36123	.	0.274297	0.33650	N	0.004693	T	0.08582	0.0213	N	0.01874	-0.695	0.20638	N	0.999878	B	0.02656	0.0	B	0.01281	0.0	T	0.37753	-0.9692	10	0.02654	T	1	-9.2713	5.9356	0.19163	0.0:0.2174:0.0:0.7826	.	36	Q9Y3P4	RHBD3_HUMAN	S	36	ENSP00000216085:G36S;ENSP00000413128:G36S;ENSP00000384113:G36S	ENSP00000216085:G36S	G	-	1	0	RHBDD3	27991510	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	1.993000	0.40747	0.598000	0.29829	-0.340000	0.08031	GGC	RHBDD3	-	NULL	ENSG00000100263		0.697	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD3	HGNC	protein_coding	OTTHUMT00000321085.1	-	0	51	0	C	NM_012265		29661510	-1	tier1	-	no_errors	ENST00000216085	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	T	T	29661510	C	T	29661510	3	4	50	1	0	0	0	0	1	0	0	0	13363	652	23	1	1074	1	RHBDD3	22	29661510	Missense_Mutation	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	6425621	29661510	21643056	132	12078											
PISD	23761	genome.wustl.edu	37	chr22	32019717	32019717	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcggtctgagggcgcCgaagggcaggaggtagtaga	9	5	20	7	3	1	3	0	2	1	1	1	5	1	4	1	5	1	4	1	5	3	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chr22:32019717C>T	ENST00000439502.2	-	4	545				PISD_ENST00000336566.4_Intron|PISD_ENST00000382151.2_Missense_Mutation_p.G58S|PISD_ENST00000397500.1_Missense_Mutation_p.G58S|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.G58S			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	CTGAGGGCGCCGAAGGGCAGG	0.682																																																	0													79	67	71					22																	32019717		2203	4300	6503	SO:0001627	intron_variant	0				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.322-1846G>A	22.37:g.32019717C>T			B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	pfam_PS_Dcarbxylase,tigrfam_PS_decarb	p.G58S	ENST00000439502.2	37	c.172		22	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975261	0.74360	.	.	ENSG00000241878	ENST00000382151;ENST00000266095;ENST00000397500;ENST00000451635;ENST00000422020;ENST00000442379;ENST00000431201;ENST00000429683	.	.	.	5.61	4.59	0.56863	.	.	.	.	.	T	0.52008	0.1708	L	0.29908	0.895	0.40090	D	0.976246	B;B	0.16802	0.019;0.013	B;B	0.11329	0.004;0.006	T	0.48854	-0.8998	8	0.44086	T	0.13	.	15.8748	0.79154	0.0:0.8646:0.1354:0.0	.	58;58	B1AKM6;Q9UG56-2	.;.	S	58	.	ENSP00000266095:G58S	G	-	1	0	PISD	30349717	1.000000	0.71417	0.787000	0.31911	0.989000	0.77384	4.734000	0.62043	1.337000	0.45525	0.591000	0.81541	GGC	PISD	-	NULL	ENSG00000241878		0.682	PISD-001	KNOWN	basic	protein_coding	PISD	HGNC	protein_coding	OTTHUMT00000075106.4		0	75	0	C			32019717	-1			no_errors	ENST00000266095	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	32019717	C	T	32019717	1	4	50	0	1	0	0	0	0	0	0	0	11985	652	23	1		1	PISD	22	32019717	Intron	SNP	C	TCGA-L5-A43H-01A-11D-A247-09	2358207	32019717	19284849	133	12079											
AWAT2	158835	genome.wustl.edu	37	chrX	69262136	69262136	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgtgtaccatgctctGgaaccacttctggaagcggt	9	11	12	9	1	2	1	0	0	2	1	2	3	2	3	2	3	4	3	2	3	4	3			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chrX:69262136G>A	ENST00000276101.3	-	6	753	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	250					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						ACCATGCTCTGGAACCACTTC	0.532																																					NSCLC(80;1334 1436 9350 24214 26427)												0													112	89	97					X																	69262136		2203	4300	6503	SO:0001587	stop_gained	0			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.748C>T	X.37:g.69262136G>A	ENSP00000421172:p.Gln250*		Q6IEE3|Q6P437	Nonsense_Mutation	SNP	pfam_DAGAT	p.Q250*	ENST00000276101.3	37	c.748	CCDS35320.1	X	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990896	0.54041	.	.	ENSG00000147160	ENST00000276101	.	.	.	5.04	4.16	0.48862	.	0.273852	0.31246	N	0.007987	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4212	0.49982	0.0:0.0:0.8185:0.1815	.	.	.	.	X	250	.	ENSP00000421172:Q250X	Q	-	1	0	AWAT2	69178861	1.000000	0.71417	0.631000	0.29282	0.123000	0.20343	6.434000	0.73408	1.087000	0.41251	0.600000	0.82982	CAG	AWAT2	-	pfam_DAGAT	ENSG00000147160		0.532	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	-	0	29	0	G	NM_001002254		69262136	-1	tier1	-	no_errors	ENST00000276101	ensembl	human	known	74_37	nonsense	13.79	24	4	SNP	0.998	A	A	69262136	G	A	69262136	4	1	50	1	0	0	0	0	0	1	0	0	1236	1357	47	3	261	3	AWAT2	23	69262136	Nonsense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09		69262136	86008424	134	12080											
ZNF185	7739	genome.wustl.edu	37	chrX	152101493	152101493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggcttggctgcagtaGacatcggctccgagagagga	10	7	15	9	2	0	3	0	1	0	2	2	6	1	4	1	4	1	5	1	4	2	2			TCGA-L5-A43H-01A-11D-A247-09	TCGA-L5-A43H-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	67ae007e-a5ef-4d44-8c27-2a0991f44b4d	0af35cb6-de6b-423a-80b8-7e2d4c8bac64	g.chrX:152101493G>T	ENST00000370268.4	+	14	1133	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y	ZNF185_ENST00000370270.2_Missense_Mutation_p.D366Y|ZNF185_ENST00000535861.1_Missense_Mutation_p.D366Y|ZNF185_ENST00000449285.2_Missense_Mutation_p.D367Y|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000539731.1_Missense_Mutation_p.D337Y|ZNF185_ENST00000318504.7_Missense_Mutation_p.D307Y|ZNF185_ENST00000318529.8_Missense_Mutation_p.D145Y			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	366						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGCAGTAGACATCGGCTC	0.602																																																	0													42	41	41					X																	152101493		1995	4131	6126	SO:0001583	missense	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1096G>T	X.37:g.152101493G>T	ENSP00000359291:p.Asp366Tyr		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.D366Y	ENST00000370268.4	37	c.1096	CCDS48184.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.724|9.724	1.160453|1.160453	0.21454|0.21454	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000433245;ENST00000370268;ENST00000318529;ENST00000436731|ENST00000426821;ENST00000447088	T;T;T;T;T|.	0.62364|.	0.13;0.5;0.1;0.03;0.1|.	3.19|3.19	3.19|3.19	0.36642|0.36642	.|.	0.368782|.	0.19030|.	U|.	0.124572|.	T|T	0.23886|0.23886	0.0578|0.0578	N|N	0.16478|0.16478	0.41|0.41	0.09310|0.09310	N|N	1|1	B;B;D;B;B;B;B|.	0.69078|.	0.005;0.005;0.997;0.019;0.023;0.005;0.019|.	B;B;P;B;B;B;B|.	0.60345|.	0.01;0.01;0.873;0.027;0.015;0.01;0.007|.	T|T	0.14309|0.14309	-1.0477|-1.0477	10|5	0.62326|.	D|.	0.03|.	-12.3538|-12.3538	9.0748|9.0748	0.36515|0.36515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	367;307;337;337;366;366;145|.	O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;F8W8V7|.	.;.;.;.;.;ZN185_HUMAN;.|.	Y|I	366;337;367;307;201;232;366;145;39|151;183	ENSP00000440847:D366Y;ENSP00000444367:D337Y;ENSP00000395228:D367Y;ENSP00000312782:D307Y;ENSP00000359291:D366Y|.	ENSP00000312782:D307Y|.	D|R	+|+	1|2	0|0	ZNF185|ZNF185	151852149|151852149	0.902000|0.902000	0.30710|0.30710	0.011000|0.011000	0.14972|0.14972	0.045000|0.045000	0.14185|0.14185	1.742000|1.742000	0.38248|0.38248	1.876000|1.876000	0.54355|0.54355	0.483000|0.483000	0.47432|0.47432	GAC|AGA	ZNF185	-	NULL	ENSG00000147394		0.602	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	-	0	35	0	G	NM_007150		152101493	1	tier1	-	no_errors	ENST00000370270	ensembl	human	known	74_37	missense	47.22	19	17	SNP	0.010	T	T	152101493	G	T	152101493	3	4	50	1	0	0	0	0	1	0	0	0	17800	942	33	3	1168	3	ZNF185	23	152101493	Missense_Mutation	SNP	G	TCGA-L5-A43H-01A-11D-A247-09	82839357	152101493	3169067	135	12081											
SLC45A1	50651	genome.wustl.edu	37	chr1	8385415	8385415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggtgtacctcaaggtttgGaaggagacgccctttcattc	8	11	11	11	2	2	1	2	0	0	1	3	3	2	2	3	4	1	2	3	4	3	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:8385415G>T	ENST00000471889.1	+	3	840	c.455G>T	c.(454-456)gGa>gTa	p.G152V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.G186V|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Missense_Mutation_p.G152V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	152					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCAAGGTTTGGAAGGAGACGC	0.502																																																	0													180	160	167					1																	8385415		2203	4300	6503	SO:0001583	missense	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.455G>T	1.37:g.8385415G>T	ENSP00000418096:p.Gly152Val		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G186V	ENST00000471889.1	37	c.557	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663212	0.88251	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.78816	-1.21;-1.21;-1.21	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90878	0.7134	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92562	0.6059	10	0.87932	D	0	-8.1571	18.489	0.90839	0.0:0.0:1.0:0.0	.	152	Q9Y2W3	S45A1_HUMAN	V	152;186;152	ENSP00000418096:G152V;ENSP00000366699:G186V;ENSP00000289877:G152V	ENSP00000289877:G152V	G	+	2	0	SLC45A1	8308002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.826000	0.99387	2.594000	0.87642	0.650000	0.86243	GGA	SLC45A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000162426		0.502	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	-	0	48	0	G			8385415	1	tier1	-	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	T	T	8385415	G	T	8385415	3	4	51	1	0	0	0	0	1	0	0	0	14685	1174	41	3	461	3	SLC45A1	1	8385415	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		8385415	240865206	1	12082											
UBR4	23352	genome.wustl.edu	37	chr1	19486660	19486660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtgtgtagctcactgaggGcttgctgagcacggctgctg	6	10	15	10	1	1	2	1	2	0	0	1	2	1	2	0	2	4	7	0	2	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:19486660G>T	ENST00000375254.3	-	39	5549	c.5522C>A	c.(5521-5523)gCc>gAc	p.A1841D	UBR4_ENST00000375226.2_Missense_Mutation_p.A1841D|UBR4_ENST00000375267.2_Missense_Mutation_p.A1841D|UBR4_ENST00000375217.2_Missense_Mutation_p.A1841D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1841					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCACTGAGGGCTTGCTGAGC	0.542																																																	0													102	92	95					1																	19486660		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5522C>A	1.37:g.19486660G>T	ENSP00000364403:p.Ala1841Asp		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.A1841D	ENST00000375254.3	37	c.5522	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.285243	0.95517	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.32272	1.5;1.5;1.49;1.46	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.52697	-0.8541	10	0.59425	D	0.04	.	19.7262	0.96165	0.0:0.0:1.0:0.0	.	1841	Q5T4S7	UBR4_HUMAN	D	1841;1841;1841;1841;551;1057	ENSP00000364403:A1841D;ENSP00000364416:A1841D;ENSP00000364365:A1841D;ENSP00000364374:A1841D	ENSP00000364365:A1841D	A	-	2	0	UBR4	19359247	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.446000	0.97590	2.671000	0.90904	0.552000	0.68991	GCC	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.542	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	33	0	G	NM_020765		19486660	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	50.00	22	22	SNP	1.000	T	T	19486660	G	T	19486660	3	4	51	1	0	0	0	0	1	0	0	0	16953	1203	42	3	10301	3	UBR4	1	19486660	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	11101245	19486660	229763961	2	12083											
HSPG2	3339	genome.wustl.edu	37	chr1	22186426	22186426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgacctgacaccgcaggGagtgggagccaccttggggc	8	5	15	13	1	0	2	0	2	0	0	0	4	0	4	4	4	1	1	4	4	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:22186426G>A	ENST00000374695.3	-	41	5163	c.5084C>T	c.(5083-5085)tCc>tTc	p.S1695F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1695	Ig-like C2-type 2.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACACCGCAGGGAGTGGGAGCC	0.657																																																	0													21	24	23					1																	22186426		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5084C>T	1.37:g.22186426G>A	ENSP00000363827:p.Ser1695Phe		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.S1695F	ENST00000374695.3	37	c.5084	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475368	0.84640	.	.	ENSG00000142798	ENST00000374695	T	0.12984	2.63	4.91	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36200	N	0.002721	T	0.36908	0.0984	M	0.77406	2.37	0.58432	D	0.99999	D	0.76494	0.999	D	0.74348	0.983	T	0.05338	-1.0891	10	0.28530	T	0.3	.	15.6386	0.76977	0.0:0.0:1.0:0.0	.	1695	P98160	PGBM_HUMAN	F	1695	ENSP00000363827:S1695F	ENSP00000363827:S1695F	S	-	2	0	HSPG2	22059013	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.171000	0.77595	2.541000	0.85698	0.591000	0.81541	TCC	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000142798		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	23	0	G	NM_005529		22186426	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	26.67	44	16	SNP	1.000	A	A	22186426	G	A	22186426	3	1	51	1	0	0	0	0	1	0	0	0	7457	1174	41	3	8319	3	HSPG2	1	22186426	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	2699766	22186426	227064195	3	12084											
LAPTM5	7805	genome.wustl.edu	37	chr1	31211879	31211879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcagaagtccagcagctGcagcgtcatcagggggaact	11	5	14	11	1	2	1	2	0	0	1	3	2	3	2	1	3	5	4	1	3	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:31211879G>T	ENST00000294507.3	-	5	492	c.418C>A	c.(418-420)Cag>Aag	p.Q140K	MIR4420_ENST00000583944.1_RNA|LAPTM5_ENST00000476492.1_5'Flank	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	140					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCAGCTGCAGCGTCATC	0.532																																																	0													59	52	54					1																	31211879		2202	4300	6502	SO:0001583	missense	0			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"lysosomal multispanning membrane protein 5"			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.418C>A	1.37:g.31211879G>T	ENSP00000294507:p.Gln140Lys		Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	p.Q140K	ENST00000294507.3	37	c.418	CCDS337.1	1	.	.	.	.	.	.	.	.	.	.	G	9.898	1.205998	0.22205	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.44083	0.93	5.73	1.58	0.23477	.	0.075108	0.56097	N	0.000029	T	0.33381	0.0861	L	0.37561	1.115	0.33895	D	0.637863	B	0.17465	0.022	B	0.20955	0.032	T	0.38908	-0.9639	10	0.66056	D	0.02	-18.729	12.7419	0.57257	0.0:0.0:0.4238:0.5762	.	140	Q13571	LAPM5_HUMAN	K	140	ENSP00000294507:Q140K	ENSP00000294507:Q140K	Q	-	1	0	LAPTM5	30984466	1.000000	0.71417	0.997000	0.53966	0.111000	0.19643	1.549000	0.36212	0.037000	0.15575	-0.181000	0.13052	CAG	LAPTM5	-	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	ENSG00000162511		0.532	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAPTM5	HGNC	protein_coding	OTTHUMT00000010463.1	-	0	51	0	G	NM_006762		31211879	-1	tier1	-	no_errors	ENST00000294507	ensembl	human	known	74_37	missense	50.00	29	29	SNP	1.000	T	T	31211879	G	T	31211879	3	4	51	1	0	0	0	0	1	0	0	0	8654	1328	46	3	386	3	LAPTM5	1	31211879	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	9025453	31211879	218038742	4	12085											
ZMYM6	9204	genome.wustl.edu	37	chr1	35485185	35485185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcaaaagaaagctgaaagCctgggttcaactgctgggct	13	8	12	8	0	1	2	1	1	0	1	1	2	1	2	1	2	5	5	1	2	5	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:35485185C>T	ENST00000357182.4	-	4	424	c.197G>A	c.(196-198)gGc>gAc	p.G66D	ZMYM6_ENST00000317538.5_Missense_Mutation_p.G66D|ZMYM6_ENST00000487874.1_Missense_Mutation_p.G66D|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Missense_Mutation_p.G66D|ZMYM6_ENST00000373340.2_Missense_Mutation_p.G66D	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	66					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AAGCTGAAAGCCTGGGTTCAA	0.368																																																	0													47	46	46					1																	35485185		2203	4300	6503	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.197G>A	1.37:g.35485185C>T	ENSP00000349708:p.Gly66Asp		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.G66D	ENST00000357182.4	37	c.197	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637528	0.29157	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531;ENST00000317538;ENST00000373333	T;T;T;T;T	0.45668	1.94;3.1;1.51;0.89;0.89	5.15	0.534	0.17127	.	1.155990	0.06213	N	0.685426	T	0.49270	0.1547	L	0.59436	1.845	0.33997	D	0.649826	P;B;B	0.52842	0.956;0.194;0.294	P;B;P	0.51016	0.656;0.197;0.462	T	0.54768	-0.8244	10	0.34782	T	0.22	2.4092	10.1193	0.42609	0.0:0.4654:0.4564:0.0781	.	66;66;66	O95789-4;O95789;O95789-1	.;ZMYM6_HUMAN;.	D	66	ENSP00000362437:G66D;ENSP00000349708:G66D;ENSP00000391337:G66D;ENSP00000326695:G66D;ENSP00000362430:G66D	ENSP00000326695:G66D	G	-	2	0	ZMYM6	35257772	1.000000	0.71417	0.992000	0.48379	0.400000	0.30750	0.864000	0.27926	0.003000	0.14656	-0.291000	0.09656	GGC	ZMYM6	-	NULL	ENSG00000163867		0.368	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0	27	0	C	NM_007167		35485185	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T	T	35485185	C	T	35485185	3	4	51	1	0	0	0	0	1	0	0	0	17752	739	26	3	3832	3	ZMYM6	1	35485185	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	4273306	35485185	213765436	5	12086											
MACF1	23499	genome.wustl.edu	37	chr1	39785373	39785373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaaatcagacaaaacTggatcaatgtcaaaaatttt	19	10	7	5	0	3	3	3	1	0	2	3	5	3	4	0	1	1	0	0	1	6	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:39785373T>C	ENST00000372915.3	+	30	4085	c.3998T>C	c.(3997-3999)cTg>cCg	p.L1333P	MACF1_ENST00000545844.1_Missense_Mutation_p.L1333P|MACF1_ENST00000567887.1_Missense_Mutation_p.L1365P|MACF1_ENST00000564288.1_Missense_Mutation_p.L1328P|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.L1333P|MACF1_ENST00000317713.7_Missense_Mutation_p.L1333P|MACF1_ENST00000361689.2_Missense_Mutation_p.L1333P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1333					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGACAAAACTGGATCAATGT	0.368																																																	0													116	114	115					1																	39785373		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3998T>C	1.37:g.39785373T>C	ENSP00000362006:p.Leu1333Pro		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L1333P	ENST00000372915.3	37	c.3998		1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.453513	0.84209	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.78	5.78	0.91487	.	.	.	.	.	T	0.62270	0.2414	M	0.63428	1.95	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.71656	0.974;0.965;0.947	T	0.65327	-0.6195	9	0.87932	D	0	.	16.1135	0.81278	0.0:0.0:0.0:1.0	.	1333;1333;1298	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	P	1333;1333;1333;1333;1333;1291;1482	ENSP00000439537:L1333P;ENSP00000362006:L1333P;ENSP00000354573:L1333P;ENSP00000313438:L1333P;ENSP00000444364:L1333P;ENSP00000435070:L1291P;ENSP00000437059:L1482P	ENSP00000313438:L1333P	L	+	2	0	MACF1	39557960	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.040000	0.89188	2.212000	0.71576	0.374000	0.22700	CTG	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.368	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	41	0	T	NM_033044		39785373	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	17.24	48	10	SNP	1.000	C	C	39785373	T	C	39785373	3	2	51	1	0	0	0	0	1	0	0	0	9180	1580	55	4	4116	4	MACF1	1	39785373	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	4300188	39785373	209465248	6	12087											
HOOK1	51361	genome.wustl.edu	37	chr1	60325953	60325953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgaggaacttcaggagcaGctagaacagaaacaccgtaa	17	6	10	8	1	1	3	1	1	0	2	1	5	1	5	1	2	5	3	1	2	5	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:60325953G>T	ENST00000371208.3	+	15	1742	c.1485G>T	c.(1483-1485)caG>caT	p.Q495H	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.Q453H	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	495	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCAGGAGCAGCTAGAACAGA	0.408																																																	0													135	142	140					1																	60325953		2203	4300	6503	SO:0001583	missense	0			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"hook homolog 1 (Drosophila)"			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1485G>T	1.37:g.60325953G>T	ENSP00000360252:p.Gln495His		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin	p.Q495H	ENST00000371208.3	37	c.1485	CCDS612.1	1	.	.	.	.	.	.	.	.	.	.	G	6.968	0.548625	0.13312	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.18016	2.24;2.24	5.05	4.12	0.48240	.	0.055730	0.85682	D	0.000000	T	0.14570	0.0352	L	0.39633	1.23	0.53688	D	0.999976	B	0.19583	0.037	B	0.21360	0.034	T	0.04737	-1.0930	10	0.37606	T	0.19	.	10.5601	0.45140	0.1503:0.0:0.8497:0.0	.	495	Q9UJC3	HOOK1_HUMAN	H	495;453	ENSP00000360252:Q495H;ENSP00000378928:Q453H	ENSP00000360252:Q495H	Q	+	3	2	HOOK1	60098541	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	1.964000	0.40462	1.465000	0.48006	0.655000	0.94253	CAG	HOOK1	-	pfam_Hook-related_fam	ENSG00000134709		0.408	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK1	HGNC	protein_coding	OTTHUMT00000024934.1	-	0	49	0	G	NM_015888		60325953	1	tier1	-	no_errors	ENST00000371208	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	60325953	G	T	60325953	3	4	51	1	0	0	0	0	1	0	0	0	7309	962	34	3	1543	3	HOOK1	1	60325953	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	20540580	60325953	188924668	7	12088											
KANK4	163782	genome.wustl.edu	37	chr1	62740569	62740569	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggctgaagtttcggggCagagtgctaaatttggcctg	9	10	16	6	1	0	2	0	1	0	1	1	3	0	3	1	5	1	4	1	5	4	3	rs139247138		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:62740569C>A	ENST00000371153.4	-	3	585	c.207G>T	c.(205-207)ctG>ctT	p.L69L	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	69						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGTTTCGGGGCAGAGTGCTAA	0.557																																																	0													133	140	138					1																	62740569		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.207G>T	1.37:g.62740569C>A			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L69	ENST00000371153.4	37	c.207	CCDS620.1	1																																																																																			KANK4	-	NULL	ENSG00000132854		0.557	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	-	0	31	0	C	NM_181712		62740569	-1	tier1	-	no_errors	ENST00000371153	ensembl	human	known	74_37	silent	40.68	35	24	SNP	1.000	A	A	62740569	C	A	62740569	2	1	51	1	0	0	0	0	0	0	0	1	8006	697	25	3		3	KANK4	1	62740569	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	2414616	62740569	186510052	8	12089											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74715142	74715142	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaacatgtttttttcaGctctgatgaagccttcagta	9	17	7	8	0	4	2	2	2	2	0	4	2	4	2	1	0	3	4	1	0	3	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:74715142G>T	ENST00000370899.3	+	5	489		c.e5-1		FPGT-TNNI3K_ENST00000370895.1_Splice_Site|FPGT-TNNI3K_ENST00000557284.2_Splice_Site|TNNI3K_ENST00000326637.3_Splice_Site|TNNI3K_ENST00000370891.2_Splice_Site|FPGT-TNNI3K_ENST00000533006.1_Splice_Site	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GTTTTTTTCAGCTCTGATGAA	0.318																																																	0													118	118	118					1																	74715142		2203	4300	6503	SO:0001630	splice_region_variant	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.453-1G>T	1.37:g.74715142G>T				Splice_Site	SNP	-	e5-1	ENST00000370899.3	37	c.492-1		1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186402	0.78789	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7289	0.96175	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RP11-653A5.2;AC093158.1	74487730	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.536000	0.73842	2.770000	0.95276	0.655000	0.94253	.	FPGT-TNNI3K	-	-	ENSG00000259030		0.318	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3		0	44	0	G		Intron	74715142	1			no_errors	ENST00000557284	ensembl	human	known	74_37	splice_site	6.25	44	3	SNP	1.000	T	T	74715142	G	T	74715142	5	4	51	1	0	0	0	0	0	0	1	0	16376	985	34	3	514	3	TNNI3K	1	74715142	Splice_Site	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	11974573	74715142	174535479	9	12090											
RBMXL1	494115	genome.wustl.edu	37	chr1	89448841	89448841	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgagaacttgggtaatcTctgcttgaatagctgtcttt	9	15	9	8	1	3	2	1	1	2	1	4	3	3	2	0	1	3	3	0	1	4	5	rs150045246		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:89448841T>C	ENST00000321792.5	-	2	1096	c.669A>G	c.(667-669)agA>agG	p.R223R	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Silent_p.R223R	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	223					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										TTGGGTAATCTCTGCTTGAAT	0.448																																																	0													185	168	174					1																	89448841		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.669A>G	1.37:g.89448841T>C				Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R223	ENST00000321792.5	37	c.669	CCDS716.1	1																																																																																			RBMXL1	-	NULL	ENSG00000213516		0.448	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0	107	0	T	NM_019610		89448841	-1	tier1	rs150045246	no_errors	ENST00000321792	ensembl	human	known	74_37	silent	10.43	103	12	SNP	1.000	C	C	89448841	T	C	89448841	2	2	51	1	0	0	0	0	0	0	0	1	13198	1548	54	4		4	RBMXL1	1	89448841	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	14733699	89448841	159801780	10	12091											
RBMXL1	494115	genome.wustl.edu	37	chr1	89448896	89448896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctcttggggacaaataaAcatctctacgagaggggagc	13	8	11	9	1	2	1	0	0	2	1	4	4	2	3	0	4	3	0	0	4	4	3	rs200284841	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:89448896A>T	ENST00000321792.5	-	2	1041	c.614T>A	c.(613-615)gTt>gAt	p.V205D	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.V205D	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	205					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GGACAAATAAACATCTCTACG	0.483																																																	0													169	164	166					1																	89448896		2203	4300	6503	SO:0001583	missense	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"RNA binding motif (RRM) containing"	25073	protein-coding gene	gene with protein product	"kynurenine aminotransferase III"					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.614T>A	1.37:g.89448896A>T	ENSP00000318415:p.Val205Asp			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.V205D	ENST00000321792.5	37	c.614	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	A	8.453	0.853607	0.17106	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.74421	-0.84;-0.84	1.53	1.53	0.23141	RBM1CTR (1);	0.065194	0.64402	D	0.000010	T	0.24624	0.0597	N	0.11560	0.145	0.43787	D	0.99632	B	0.09022	0.002	B	0.14023	0.01	T	0.35968	-0.9767	10	0.02654	T	1	-6.4505	6.8078	0.23786	1.0:0.0:0.0:0.0	.	205	Q96E39	RBMXL_HUMAN	D	205	ENSP00000318415:V205D;ENSP00000446099:V205D	ENSP00000318415:V205D	V	-	2	0	RBMXL1	89221484	1.000000	0.71417	0.981000	0.43875	0.552000	0.35366	3.264000	0.51553	0.706000	0.31912	0.254000	0.18369	GTT	RBMXL1	-	pfam_RBM1CTR	ENSG00000213516		0.483	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	-	0	81	0	A	NM_019610		89448896	-1	tier1	rs200284841	no_errors	ENST00000321792	ensembl	human	known	74_37	missense	11.34	85	11	SNP	1.000	T	T	89448896	A	T	89448896	3	4	51	1	0	0	0	0	1	0	0	0	13198	43	2	5	562	5	RBMXL1	1	89448896	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	55	89448896	159801725	11	12092											
CYB561D1	284613	genome.wustl.edu	37	chr1	110038448	110038448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgttcttcttctgctcccGaaaagcacggatccggctcc	6	11	8	16	3	3	0	0	0	3	0	6	2	6	1	4	2	2	4	4	2	2	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:110038448G>A	ENST00000420578.2	+	3	297	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	CYB561D1_ENST00000369868.3_Missense_Mutation_p.R108Q|CYB561D1_ENST00000310611.4_Missense_Mutation_p.E121K|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R29Q|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R86Q|CYB561D1_ENST00000533024.1_Missense_Mutation_p.E42K			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	86	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCTGCTCCCGAAAAGCACGG	0.577																																																	0													175	175	175					1																	110038448		2203	4300	6503	SO:0001583	missense	0			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"Cytochrome b genes"	26804	protein-coding gene	gene with protein product			"cytochrome b-561 domain containing 1"			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.257G>A	1.37:g.110038448G>A	ENSP00000413530:p.Arg86Gln		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.R108Q	ENST00000420578.2	37	c.323	CCDS800.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.054946|4.054946	0.75960|0.75960	.|.	.|.	ENSG00000174151|ENSG00000174151	ENST00000533024;ENST00000310611|ENST00000393709;ENST00000420578;ENST00000528785;ENST00000369868	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Cytochrome b561, eukaryote (1);Cytochrome b561/ferric reductase transmembrane (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53334|0.53334	0.1790|0.1790	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|D;D;D;D	0.51791|0.89917	0.948|1.0;1.0;1.0;1.0	B|P;D;D;D	0.39503|0.73380	0.301|0.873;0.98;0.971;0.98	T|T	0.57963|0.57963	-0.7720|-0.7720	7|9	0.87932|0.72032	D|D	0|0.01	-2.8484|-2.8484	9.7187|9.7187	0.40289|0.40289	0.0913:0.0:0.9087:0.0|0.0913:0.0:0.9087:0.0	.|.	121|108;86;29;48	Q8N8Q1-2|Q8N8Q1-3;Q8N8Q1;E9PCM8;Q6ZQS1	.|.;C56D1_HUMAN;.;.	K|Q	42;121|29;86;86;108	.|ENSP00000377312:R29Q;ENSP00000413530:R86Q;ENSP00000434344:R86Q;ENSP00000358884:R108Q	ENSP00000309324:E121K|ENSP00000358884:R108Q	E|R	+|+	1|2	0|0	CYB561D1|CYB561D1	109839971|109839971	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.651000|7.651000	0.83577|0.83577	2.731000|2.731000	0.93534|0.93534	0.555000|0.555000	0.69702|0.69702	GAA|CGA	CYB561D1	-	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000174151		0.577	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYB561D1	HGNC	protein_coding	OTTHUMT00000030384.1	-	0	36	0	G	NM_182580		110038448	1	tier1	-	no_errors	ENST00000369868	ensembl	human	known	74_37	missense	45.65	25	21	SNP	1.000	A	A	110038448	G	A	110038448	3	1	51	1	0	0	0	0	1	0	0	0	4129	1059	37	1	452	1	CYB561D1	1	110038448	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	20589552	110038448	139212173	12	12093											
ITGA10	8515	genome.wustl.edu	37	chr1	145525093	145525095	+	In_Frame_Del	DEL	TTC	TTC	-																															tccccttcgtcactcacctgTtcttgcccctggtgttcctg																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:145525093_145525095delTTC	ENST00000369304.3	+	1	203_205	c.28_30delTTC	c.(28-30)ttcdel	p.F10del	ITGA10_ENST00000538811.1_5'UTR|ITGA10_ENST00000539363.1_In_Frame_Del_p.F10del	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	10					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTCACCTGTTCTTGCCCCTGG	0.468											OREG0013749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001651	inframe_deletion	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.28_30delTTC	1.37:g.145525093_145525095delTTC	ENSP00000358310:p.Phe10del	1695	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	In_Frame_Del	DEL	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.F10in_frame_del	ENST00000369304.3	37	c.28_30	CCDS918.1	1																																																																																			ITGA10	-	NULL	ENSG00000143127		0.468	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2		0	125	0	TTC	NM_003637		145525095	1	tier1		no_errors	ENST00000369304	ensembl	human	known	74_37	in_frame_del	38.93	80	51	DEL	0.724:0.719:0.746	-	-	145525095	TTC	-	145525093	7	5	51	1	0	1	0	1	0	0	0	0	7900	1725	60	0	30	0	ITGA10	1	145525093	In_Frame_Del	DEL	TTC	TCGA-L5-A43I-01A-11D-A247-09	35486645	145525093	103725528	13	12094	45	2									
ITGA10	8515	genome.wustl.edu	37	chr1	145525099	145525099	+	Frame_Shift_Del	DEL	C	C	-																															tcgtcactcacctgttcttgCccctggtgttcctgacaggt																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:145525099delC	ENST00000369304.3	+	1	209	c.34delC	c.(34-36)cccfs	p.P12fs	ITGA10_ENST00000538811.1_5'UTR|ITGA10_ENST00000539363.1_Frame_Shift_Del_p.P12fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	12					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGTTCTTGCCCCTGGTGTT	0.463											OREG0013749	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													237	197	210					1																	145525099		2203	4300	6503	SO:0001589	frameshift_variant	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.34delC	1.37:g.145525099delC	ENSP00000358310:p.Pro12fs	1695	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L13fs	ENST00000369304.3	37	c.34	CCDS918.1	1																																																																																			ITGA10	-	NULL	ENSG00000143127		0.463	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2		0	112	0	C	NM_003637		145525099	1	tier1		no_errors	ENST00000369304	ensembl	human	known	74_37	frame_shift_del	36.88	89	52	DEL	0.998	-	-	145525099	C	-	145525099	7	5	51	1	0	1	0	1	0	0	0	0	7900	739	26	0	36	0	ITGA10	1	145525099	Frame_Shift_Del	DEL	C	TCGA-L5-A43I-01A-11D-A247-09	6	145525099	103725522	14	12095	45	2									
FLG	2312	genome.wustl.edu	37	chr1	152277405	152277405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgaagcttgtccacgCggaatgcctgagtgtctgga	9	9	14	9	2	1	3	0	2	1	1	2	5	2	5	2	2	2	2	2	2	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:152277405C>T	ENST00000368799.1	-	3	9992	c.9957G>A	c.(9955-9957)ccG>ccA	p.P3319P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3319	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGTCCACGCGGAATGCCTG	0.552									Ichthyosis																																								0													409	399	402					1																	152277405		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9957G>A	1.37:g.152277405C>T			Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.P3319	ENST00000368799.1	37	c.9957	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	145	0	C	NM_002016		152277405	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	silent	24.66	168	55	SNP	0.000	T	T	152277405	C	T	152277405	2	4	51	1	0	0	0	0	0	0	0	1	5944	755	27	1		1	FLG	1	152277405	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	6752306	152277405	96973216	15	12096											
SYT11	23208	genome.wustl.edu	37	chr1	155838079	155838079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctctggatcttgtataGaccaattacccatcaaaatg	13	12	6	10	0	3	1	1	0	2	1	3	2	3	2	2	1	2	2	2	1	7	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:155838079G>T	ENST00000368324.4	+	2	611	c.358G>T	c.(358-360)Gac>Tac	p.D120Y	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	120					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATCTTGTATAGACCAATTACC	0.537																																																	0													94	96	95					1																	155838079		2203	4300	6503	SO:0001583	missense	0			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"Synaptotagmins"	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.358G>T	1.37:g.155838079G>T	ENSP00000357307:p.Asp120Tyr		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.D120Y	ENST00000368324.4	37	c.358	CCDS1122.1	1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373480	0.61624	.	.	ENSG00000132718	ENST00000368324	T	0.45276	0.9	5.14	5.14	0.70334	.	0.105228	0.64402	D	0.000004	T	0.27278	0.0669	L	0.40543	1.245	0.80722	D	1	P	0.44877	0.845	P	0.44732	0.459	T	0.09250	-1.0683	10	0.62326	D	0.03	.	11.0141	0.47679	0.0862:0.0:0.9138:0.0	.	120	Q9BT88	SYT11_HUMAN	Y	120	ENSP00000357307:D120Y	ENSP00000357307:D120Y	D	+	1	0	SYT11	154104703	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	4.529000	0.60588	2.671000	0.90904	0.655000	0.94253	GAC	SYT11	-	NULL	ENSG00000132718		0.537	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT11	HGNC	protein_coding	OTTHUMT00000039597.1		0	40	0	G	NM_152280		155838079	1			no_errors	ENST00000368324	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.998	T	T	155838079	G	T	155838079	3	4	51	1	0	0	0	0	1	0	0	0	15514	942	33	3	364	3	SYT11	1	155838079	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3560674	155838079	93412542	16	12097											
CD1E	913	genome.wustl.edu	37	chr1	158325247	158325247	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaacatctgtaaagtGctcaatcgctacctagatat	13	10	7	11	1	2	2	1	0	1	2	3	2	2	2	2	0	3	3	2	0	7	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:158325247G>C	ENST00000368167.3	+	3	752	c.513G>C	c.(511-513)gtG>gtC	p.V171V	CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368161.3_Silent_p.V171V|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000444681.2_Silent_p.V72V|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Silent_p.V171V|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000434258.1_Silent_p.V169V|CD1E_ENST00000368160.3_Silent_p.V171V	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	171					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TCTGTAAAGTGCTCAATCGCT	0.493																																																	0													83	82	82					1																	158325247		1882	4120	6002	SO:0001819	synonymous_variant	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.513G>C	1.37:g.158325247G>C			B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V171	ENST00000368167.3	37	c.513	CCDS41417.1	1																																																																																			CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.493	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	49	0	G	NM_030893		158325247	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.896	C	C	158325247	G	C	158325247	2	2	51	1	0	0	0	0	0	0	0	1	2985	1306	46	5		5	CD1E	1	158325247	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	2487168	158325247	90925374	17	12098											
TAGLN2	8407	genome.wustl.edu	37	chr1	159890152	159890152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccagttctggaagttctCgcgtccaggctggggccggc	5	8	16	12	3	2	0	0	0	2	0	4	2	3	1	3	5	1	3	3	5	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:159890152C>T	ENST00000368097.4	-	2	458	c.148G>A	c.(148-150)Gag>Aag	p.E50K	TAGLN2_ENST00000368096.1_Missense_Mutation_p.E71K|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E50K|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	50	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGAAGTTCTCGCGTCCAGGC	0.587																																																	0													57	59	58					1																	159890152		2203	4300	6503	SO:0001583	missense	0			D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"SM22-alpha homolog"	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.148G>A	1.37:g.159890152C>T	ENSP00000357077:p.Glu50Lys		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin	p.E71K	ENST00000368097.4	37	c.211	CCDS1189.1	1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.297102	0.23650	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.92	3.99	0.46301	Calponin homology domain (5);	0.311416	0.22526	U	0.058908	T	0.47377	0.1442	L	0.38692	1.165	0.38306	D	0.943123	D;B	0.61080	0.989;0.083	P;B	0.55577	0.779;0.054	T	0.45308	-0.9270	9	.	.	.	-28.3437	13.4433	0.61125	0.0:0.8416:0.1584:0.0	.	50;50	B7Z5A2;P37802	.;TAGL2_HUMAN	K	50;71;50;50	ENSP00000357077:E50K;ENSP00000357076:E71K;ENSP00000357075:E50K;ENSP00000412429:E50K	.	E	-	1	0	TAGLN2	158156776	0.000000	0.05858	0.806000	0.32338	0.908000	0.53690	-0.130000	0.10498	1.166000	0.42689	0.561000	0.74099	GAG	TAGLN2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000158710		0.587	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN2	HGNC	protein_coding	OTTHUMT00000059105.1	-	0	31	0	C	NM_003564		159890152	-1	tier1	-	no_errors	ENST00000368096	ensembl	human	known	74_37	missense	33.87	41	21	SNP	0.800	T	T	159890152	C	T	159890152	3	4	51	1	0	0	0	0	1	0	0	0	15586	893	31	1	467	1	TAGLN2	1	159890152	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1564905	159890152	89360469	18	12099											
KCNJ9	3765	genome.wustl.edu	37	chr1	160054576	160054576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatcagccacgagatcgaCgccgccagccccttctggga	8	7	11	15	4	2	1	1	0	1	1	3	4	2	2	5	1	2	1	5	1	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:160054576C>T	ENST00000368088.3	+	2	998	c.756C>T	c.(754-756)gaC>gaT	p.D252D		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	252					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACGAGATCGACGCCGCCAGCC	0.657																																																	0													6	5	5					1																	160054576		2128	4156	6284	SO:0001819	synonymous_variant	0			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.756C>T	1.37:g.160054576C>T			Q5JW75	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.D252	ENST00000368088.3	37	c.756	CCDS1194.1	1																																																																																			KCNJ9	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000162728		0.657	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	-	0	14	0	C	NM_004983		160054576	1	tier1	-	no_errors	ENST00000368088	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.974	T	T	160054576	C	T	160054576	2	4	51	1	0	0	0	0	0	0	0	1	8084	535	19	1		1	KCNJ9	1	160054576	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	164424	160054576	89196045	19	12100											
ADCY10	55811	genome.wustl.edu	37	chr1	167780044	167780044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcaggaagaggccaCatttctgcccatctcccatt	8	12	8	13	0	3	1	1	0	2	1	4	2	3	2	3	2	1	1	3	2	1	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:167780044C>T	ENST00000367851.4	-	32	4773	c.4589G>A	c.(4588-4590)tGt>tAt	p.C1530Y	ADCY10_ENST00000545172.1_Missense_Mutation_p.C1377Y|ADCY10_ENST00000367848.1_Missense_Mutation_p.C1438Y	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1530					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAAGAGGCCACATTTCTGCCC	0.478																																																	0													80	74	76					1																	167780044		2203	4300	6503	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4589G>A	1.37:g.167780044C>T	ENSP00000356825:p.Cys1530Tyr		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.C1530Y	ENST00000367851.4	37	c.4589	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655376	0.29425	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.33654	1.4;1.41;1.41	5.43	4.51	0.55191	.	0.104322	0.43747	D	0.000528	T	0.44498	0.1296	M	0.65975	2.015	0.35031	D	0.758821	D;D	0.76494	0.999;0.998	D;D	0.68943	0.961;0.915	T	0.54118	-0.8341	9	0.72032	D	0.01	-12.667	11.5052	0.50461	0.1795:0.8205:0.0:0.0	.	1438;1530	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	Y	1377;1530;1438	ENSP00000441992:C1377Y;ENSP00000356825:C1530Y;ENSP00000356822:C1438Y	ENSP00000356822:C1438Y	C	-	2	0	ADCY10	166046668	0.985000	0.35326	0.081000	0.20488	0.006000	0.05464	3.701000	0.54793	1.278000	0.44430	0.561000	0.74099	TGT	ADCY10	-	pirsf_Adenylate_cylcase_typ10	ENSG00000143199		0.478	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0	39	0	C	NM_018417		167780044	-1	tier1	-	no_errors	ENST00000367851	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.729	T	T	167780044	C	T	167780044	3	4	51	1	0	0	0	0	1	0	0	0	293	478	17	3	251	3	ADCY10	1	167780044	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	7725468	167780044	81470577	20	12101											
ATP1B1	481	genome.wustl.edu	37	chr1	169100709	169100709	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaaattcgcatagagtgTaaggcgtacggtgagaacat	14	9	12	6	3	0	3	0	2	0	2	1	4	0	3	0	2	2	3	0	2	5	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:169100709T>A	ENST00000367816.1	+	7	1357	c.828T>A	c.(826-828)tgT>tgA	p.C276*	ATP1B1_ENST00000367815.4_Nonsense_Mutation_p.C276*|ATP1B1_ENST00000499679.3_Nonsense_Mutation_p.C220*|ATP1B1_ENST00000367813.3_Nonsense_Mutation_p.C268*			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	276	immunoglobulin-like.				blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GCATAGAGTGTAAGGCGTACG	0.458																																																	0													108	101	103					1																	169100709		2203	4300	6503	SO:0001587	stop_gained	0			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"ATPases / P-type"	804	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit beta-1", "sodium pump subunit beta-1", "sodium-potassium ATPase subunit beta 1 (non-catalytic)"	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.828T>A	1.37:g.169100709T>A	ENSP00000356790:p.Cys276*		Q5TGZ3	Nonsense_Mutation	SNP	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	p.C276*	ENST00000367816.1	37	c.828	CCDS1276.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.140770	0.94560	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	.	.	.	5.46	3.13	0.36017	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3761	7.1261	0.25473	0.0:0.3928:0.0:0.6072	.	.	.	.	X	276;276;220;268	.	ENSP00000356787:C268X	C	+	3	2	ATP1B1	167367333	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	0.379000	0.24794	0.528000	0.53228	TGT	ATP1B1	-	pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta	ENSG00000143153		0.458	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	-	0	79	0	T			169100709	1	tier1	-	no_errors	ENST00000367815	ensembl	human	known	74_37	nonsense	27.16	59	22	SNP	1.000	A	A	169100709	T	A	169100709	4	1	51	1	0	0	0	0	0	1	0	0	1133	1644	57	5	850	5	ATP1B1	1	169100709	Nonsense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	1320665	169100709	80149912	21	12102											
C1orf9	51430	genome.wustl.edu	37	chr1	172547523	172547523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccaggaactatttgatgagGactatggtaagtgacatcaa	14	10	11	6	0	1	3	1	3	0	0	1	5	1	5	1	3	1	1	1	3	5	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:172547523G>A	ENST00000263688.3	+	14	1645	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	SUCO_ENST00000608151.1_Missense_Mutation_p.D628N|SUCO_ENST00000610051.1_Missense_Mutation_p.D439N|SUCO_ENST00000367723.4_Missense_Mutation_p.D627N	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	476					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATTTGATGAGGACTATGGTAA	0.343																																																	0													118	109	112					1																	172547523		2203	4300	6503	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1426G>A	1.37:g.172547523G>A	ENSP00000263688:p.Asp476Asn		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.D628N	ENST00000263688.3	37	c.1882	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.375628	0.95923	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.22	5.22	0.72569	.	0.045924	0.85682	D	0.000000	T	0.51483	0.1677	L	0.27053	0.805	0.80722	D	1	P;B;D;P	0.56287	0.952;0.166;0.975;0.822	B;B;P;P	0.55455	0.439;0.132;0.776;0.511	T	0.58346	-0.7652	9	0.66056	D	0.02	-7.5289	17.341	0.87296	0.0:0.0:1.0:0.0	.	439;476;628;476	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	N	628;476	.	ENSP00000263688:D476N	D	+	1	0	C1orf9	170814146	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.496000	0.97967	2.442000	0.82660	0.563000	0.77884	GAC	SUCO	-	NULL	ENSG00000094975		0.343	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	-	0	44	0	G	NM_016227		172547523	1	tier1	-	no_errors	ENST00000608151	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	A	A	172547523	G	A	172547523	3	1	51	1	0	0	0	0	1	0	0	0	2074	1174	41	3	1480	3	C1orf9	1	172547523	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3446814	172547523	76703098	22	12103											
TMEM206	55248	genome.wustl.edu	37	chr1	212553243	212553243	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaaagcccacctttgcAggaactcctggaaagaagag	14	7	9	11	0	1	2	0	0	1	2	2	4	2	4	3	2	3	1	3	2	5	2	rs532279691	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:212553243A>C	ENST00000261455.4	-	5	769	c.632T>G	c.(631-633)cTg>cGg	p.L211R	TMEM206_ENST00000535273.1_Missense_Mutation_p.L272R	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	211						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CCACCTTTGCAGGAACTCCTG	0.498																																																	1	Unknown(1)	skin(1)											87	91	90					1																	212553243		2203	4300	6503	SO:0001583	missense	0			AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 75"	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.632T>G	1.37:g.212553243A>C	ENSP00000261455:p.Leu211Arg		B7Z4D6|Q6IA87|Q9NV85	Missense_Mutation	SNP	NULL	p.L272R	ENST00000261455.4	37	c.815	CCDS1504.1	1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056271	0.55325	.	.	ENSG00000065600	ENST00000261455;ENST00000535273	.	.	.	5.57	5.57	0.84162	.	0.465881	0.24022	N	0.042268	T	0.53610	0.1807	N	0.24115	0.695	0.37631	D	0.921665	D;P	0.57571	0.98;0.573	P;P	0.54312	0.748;0.468	T	0.63611	-0.6598	9	0.87932	D	0	-4.9101	15.7715	0.78173	1.0:0.0:0.0:0.0	.	272;211	B7Z4D6;Q9H813	.;TM206_HUMAN	R	211;272	.	ENSP00000261455:L211R	L	-	2	0	TMEM206	210619866	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.901000	0.56303	2.129000	0.65627	0.529000	0.55759	CTG	TMEM206	-	NULL	ENSG00000065600		0.498	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM206	HGNC	protein_coding	OTTHUMT00000089306.1		0	34	0	A	NM_018252		212553243	-1			no_errors	ENST00000535273	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	C	C	212553243	A	C	212553243	3	2	51	1	0	0	0	0	1	0	0	0	16178	188	7	4	436	4	TMEM206	1	212553243	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	40005720	212553243	36697378	23	12104											
ITPKB	3707	genome.wustl.edu	37	chr1	226834869	226834869	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagaagcctggctcaccTgattcccatcttgcagtcca	8	10	9	14	1	2	2	1	1	1	1	4	3	4	2	4	1	3	2	4	1	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:226834869T>A	ENST00000272117.3	-	3	2244	c.2245A>T	c.(2245-2247)Agg>Tgg	p.R749W	ITPKB_ENST00000429204.1_Splice_Site_p.R749W			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	749					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGGCTCACCTGATTCCCATC	0.627																																					Colon(84;110 1851 5306 33547)												0													132	95	108					1																	226834869		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2246+1A>T	1.37:g.226834869T>A			Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.R749W	ENST00000272117.3	37	c.2245	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326810	0.81690	.	.	ENSG00000143772	ENST00000272117;ENST00000429204	T;T	0.25912	1.77;1.77	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77707	-0.2487	10	0.87932	D	0	-29.7842	15.4289	0.75077	0.0:0.0:0.0:1.0	.	749	P27987	IP3KB_HUMAN	W	749	ENSP00000272117:R749W;ENSP00000411152:R749W	ENSP00000272117:R749W	R	-	1	2	ITPKB	224901492	1.000000	0.71417	0.999000	0.59377	0.450000	0.32258	6.077000	0.71275	2.054000	0.61138	0.533000	0.62120	AGG	ITPKB	-	pfam_IPK	ENSG00000143772		0.627	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0	43	0	T	NM_002221	Missense_Mutation	226834869	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	missense	20.69	69	18	SNP	1.000	A	A	226834869	T	A	226834869	5	1	51	1	0	0	0	0	0	0	1	0	7945	1594	55	5	615	5	ITPKB	1	226834869	Splice_Site	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	14281626	226834869	22415752	24	12105											
MTR	4548	genome.wustl.edu	37	chr1	236988684	236988684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaacgccttctatgatGgccaagcacctaaaggtcag	13	8	10	10	1	2	2	1	2	1	0	2	3	2	2	3	2	2	1	3	2	5	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:236988684G>C	ENST00000366577.5	+	10	1306	c.912G>C	c.(910-912)atG>atC	p.M304I	MTR_ENST00000535889.1_Missense_Mutation_p.M304I	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	304	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTTCTATGATGGCCAAGCACC	0.383																																																	0													148	149	149					1																	236988684		2203	4300	6503	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.912G>C	1.37:g.236988684G>C	ENSP00000355536:p.Met304Ile		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.M304I	ENST00000366577.5	37	c.912	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281458	0.40394	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	T;T	0.35789	1.29;1.29	5.45	4.48	0.54585	Homocysteine S-methyltransferase (4);	0.098932	0.64402	D	0.000002	T	0.56775	0.2008	H	0.97291	3.975	0.40686	D	0.982354	B;B;B	0.23490	0.086;0.086;0.086	B;B;B	0.31614	0.133;0.133;0.133	T	0.67764	-0.5586	10	0.87932	D	0	-32.3068	11.4483	0.50136	0.0:0.0:0.6585:0.3415	.	304;304;304	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	I	304	ENSP00000355536:M304I;ENSP00000441845:M304I	ENSP00000355536:M304I	M	+	3	0	MTR	235055307	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	1.301000	0.33447	2.837000	0.97791	0.591000	0.81541	ATG	MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH	ENSG00000116984		0.383	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0	47	0	G	NM_000254		236988684	1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	18.99	64	15	SNP	1.000	C	C	236988684	G	C	236988684	3	2	51	1	0	0	0	0	1	0	0	0	9996	1348	47	5	950	5	MTR	1	236988684	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	10153815	236988684	12261937	25	12106											
RYR2	6262	genome.wustl.edu	37	chr1	237947621	237947621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttgaaatgcagctggcGgctcagatctcggagtcgga	9	10	13	9	3	3	2	1	1	2	1	5	4	3	4	0	4	2	3	0	4	1	1	rs372943408	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:237947621G>A	ENST00000366574.2	+	90	12926	c.12609G>A	c.(12607-12609)gcG>gcA	p.A4203A	RYR2_ENST00000542537.1_Silent_p.A4187A|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.A4209A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4203					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGCAGCTGGCGGCTCAGATCT	0.517																																																	0													73	78	77					1																	237947621		2001	4189	6190	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12609G>A	1.37:g.237947621G>A			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A4209	ENST00000366574.2	37	c.12627	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	30	0	G	NM_001035		237947621	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	silent	76.36	13	42	SNP	0.015	A	A	237947621	G	A	237947621	2	1	51	1	0	0	0	0	0	0	0	1	13814	1103	39	1		1	RYR2	1	237947621	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	958937	237947621	11303000	26	12107											
OR2T8	343172	genome.wustl.edu	37	chr1	248084899	248084899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgacacttcagtcttcGaaaacgccatgtacatctgc	10	11	8	12	2	3	1	1	1	2	0	4	2	3	1	1	0	4	2	1	0	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:248084899G>A	ENST00000319968.4	+	1	580	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCAGTCTTCGAAAACGCCAT	0.537																																																	0													5	3	4					1																	248084899		1785	3461	5246	SO:0001583	missense	0				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"GPCR / Class A : Olfactory receptors"	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.580G>A	1.37:g.248084899G>A	ENSP00000326225:p.Glu194Lys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E194K	ENST00000319968.4	37	c.580	CCDS31100.1	1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563920	0.65651	.	.	ENSG00000177462	ENST00000319968	T	0.00207	8.55	3.56	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35407	U	0.003231	T	0.00524	0.0017	M	0.80847	2.515	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.39820	-0.9595	10	0.66056	D	0.02	.	11.7228	0.51691	0.0:0.1794:0.8206:0.0	.	194	A6NH00	OR2T8_HUMAN	K	194	ENSP00000326225:E194K	ENSP00000326225:E194K	E	+	1	0	OR2T8	246151522	0.001000	0.12720	0.013000	0.15412	0.361000	0.29550	1.090000	0.30902	1.816000	0.52996	0.404000	0.27445	GAA	OR2T8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177462		0.537	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	-	0	24	0	G	NM_001005522		248084899	1	tier1	-	no_errors	ENST00000319968	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.003	A	A	248084899	G	A	248084899	3	1	51	1	0	0	0	0	1	0	0	0	11069	1059	37	1	582	1	OR2T8	1	248084899	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	10137278	248084899	1165722	27	12108											
OR2L8	391190	genome.wustl.edu	37	chr1	248112938	248112938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtctacacttatctacGtccaagatccctgcgatctc	8	15	5	13	2	3	1	0	0	3	1	6	2	5	1	2	0	3	0	2	0	4	5	rs572027464		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:248112938G>A	ENST00000357191.3	+	1	779	c.779G>A	c.(778-780)cGt>cAt	p.R260H	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R260P(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTTATCTACGTCCAAGATCC	0.478													G|||	1	0.000199681	8e-04	0	5008	,	,		20431	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)											124	93	104					1																	248112938		2203	4297	6500	SO:0001583	missense	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.779G>A	1.37:g.248112938G>A	ENSP00000349719:p.Arg260His		Q6IF03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R260H	ENST00000357191.3	37	c.779	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	3.913	-0.019694	0.07634	.	.	ENSG00000196936	ENST00000357191	T	0.37752	1.18	1.8	-0.293	0.12835	GPCR, rhodopsin-like superfamily (1);	1.357770	0.05838	N	0.618874	T	0.30823	0.0777	L	0.60455	1.87	0.09310	N	1	B	0.19073	0.033	B	0.15484	0.013	T	0.24693	-1.0153	10	0.23891	T	0.37	.	4.437	0.11555	0.5955:0.0:0.4045:0.0	.	260	Q8NGY9	OR2L8_HUMAN	H	260	ENSP00000349719:R260H	ENSP00000349719:R260H	R	+	2	0	OR2L8	246179561	0.000000	0.05858	0.056000	0.19401	0.385000	0.30292	-1.472000	0.02341	0.109000	0.17891	0.485000	0.47835	CGT	OR2L8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196936		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	-	0	99	0	G			248112938	1	tier1	-	no_errors	ENST00000357191	ensembl	human	known	74_37	missense	24.82	103	34	SNP	0.147	A	A	248112938	G	A	248112938	3	1	51	1	0	0	0	0	1	0	0	0	11048	1145	40	1	781	1	OR2L8	1	248112938	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	28039	248112938	1137683	28	12109											
OR2T33	391195	genome.wustl.edu	37	chr1	248436537	248436537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatgtacatggcgttttCgaagactgaagtgtcagcac	11	10	12	8	2	1	3	1	1	0	2	2	4	1	3	0	1	2	4	0	1	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr1:248436537C>T	ENST00000318021.2	-	1	601	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGCGTTTTCGAAGACTGAA	0.532																																																	0													23	26	25					1																	248436537		2190	4271	6461	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.580G>A	1.37:g.248436537C>T	ENSP00000324687:p.Glu194Lys		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E194K	ENST00000318021.2	37	c.580	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	10.30	1.313415	0.23908	.	.	ENSG00000177212	ENST00000318021	T	0.00207	8.55	2.52	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35407	U	0.003231	T	0.00496	0.0016	M	0.70787	2.145	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45323	-0.9269	10	0.66056	D	0.02	.	13.4017	0.60887	0.0:1.0:0.0:0.0	.	194	Q8NG76	O2T33_HUMAN	K	194	ENSP00000324687:E194K	ENSP00000324687:E194K	E	-	1	0	OR2T33	246503160	0.000000	0.05858	0.011000	0.14972	0.024000	0.10985	0.037000	0.13840	1.338000	0.45544	0.494000	0.49563	GAA	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177212		0.532	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0	48	0	C	NM_001004695		248436537	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.006	T	T	248436537	C	T	248436537	3	4	51	1	0	0	0	0	1	0	0	0	11063	893	31	1	385	1	OR2T33	1	248436537	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	323599	248436537	814084	29	12110											
APOB	338	genome.wustl.edu	37	chr2	21232670	21232670	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctactaatttatccattAaaacctggatttgttggtct	11	17	5	8	0	2	0	0	0	2	0	3	1	3	1	2	2	2	1	2	2	5	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:21232670A>T	ENST00000233242.1	-	26	7197	c.7070T>A	c.(7069-7071)tTa>tAa	p.L2357*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2357					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTATCCATTAAAACCTGGAT	0.368																																																	0													74	72	72					2																	21232670		2203	4300	6503	SO:0001587	stop_gained	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7070T>A	2.37:g.21232670A>T	ENSP00000233242:p.Leu2357*		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L2357*	ENST00000233242.1	37	c.7070	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	48	14.462835	0.99796	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.76	5.76	0.90799	.	0.136721	0.33382	N	0.004973	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0668	0.80887	1.0:0.0:0.0:0.0	.	.	.	.	X	2357	.	ENSP00000233242:L2357X	L	-	2	0	APOB	21086175	1.000000	0.71417	0.963000	0.40424	0.795000	0.44927	9.300000	0.96151	2.192000	0.70111	0.459000	0.35465	TTA	APOB	-	superfamily_ARM-type_fold	ENSG00000084674		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	65	0	A			21232670	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	nonsense	23.23	76	23	SNP	0.978	T	T	21232670	A	T	21232670	4	4	51	1	0	0	0	0	0	1	0	0	785	372	13	5	6637	5	APOB	2	21232670	Nonsense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09		21232670	221966703	30	12111											
RASGRP3	25780	genome.wustl.edu	37	chr2	33749506	33749506	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttattgcagaagctccTtcagctcaaaaattttaaca	14	15	4	8	0	2	1	2	0	0	1	3	1	3	1	1	0	4	3	1	0	5	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:33749506T>G	ENST00000403687.3	+	9	1438	c.698T>G	c.(697-699)cTt>cGt	p.L233R	RASGRP3_ENST00000402538.3_Missense_Mutation_p.L233R|RASGRP3_ENST00000407811.1_Missense_Mutation_p.L233R	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	233	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CAGAAGCTCCTTCAGCTCAAA	0.348																																																	0													49	47	48					2																	33749506		1821	4084	5905	SO:0001583	missense	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.698T>G	2.37:g.33749506T>G	ENSP00000384192:p.Leu233Arg		D6W583|O94931|Q53SD7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.L233R	ENST00000403687.3	37	c.698	CCDS46256.1	2	.	.	.	.	.	.	.	.	.	.	T	7.142	0.581952	0.13749	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.27890	1.64;1.64;1.64	5.34	5.34	0.76211	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.14917	0.0360	N	0.02539	-0.55	0.47862	D	0.999538	B;B	0.21905	0.062;0.062	B;B	0.37451	0.25;0.25	T	0.15492	-1.0435	10	0.02654	T	1	-13.3537	11.9384	0.52886	0.0:0.0:0.145:0.8549	.	233;233	D6W583;Q8IV61	.;GRP3_HUMAN	R	233	ENSP00000385886:L233R;ENSP00000384192:L233R;ENSP00000383917:L233R	ENSP00000385886:L233R	L	+	2	0	RASGRP3	33603010	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.011000	0.49567	2.021000	0.59480	0.533000	0.62120	CTT	RASGRP3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000152689		0.348	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	-	0	52	0	T	NM_015376		33749506	1	tier1	-	no_errors	ENST00000402538	ensembl	human	known	74_37	missense	22.22	49	14	SNP	1.000	G	G	33749506	T	G	33749506	3	3	51	1	0	0	0	0	1	0	0	0	13121	1609	56	4	724	4	RASGRP3	2	33749506	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	12516836	33749506	209449867	31	12112											
TMEM17	200728	genome.wustl.edu	37	chr2	62728353	62728353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaacactggatcagatctcTtctatacatgacctcatcct	12	12	4	13	0	4	2	2	1	2	1	6	3	5	3	2	1	2	0	2	1	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:62728353T>C	ENST00000335390.5	-	4	799	c.588A>G	c.(586-588)gaA>gaG	p.E196E		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	196					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			ATCAGATCTCTTCTATACATG	0.423																																																	0													132	119	123					2																	62728353		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.588A>G	2.37:g.62728353T>C			Q53QP7|Q53R98	Silent	SNP	pfam_Uncharacterised_TM-17	p.E196	ENST00000335390.5	37	c.588	CCDS1871.1	2																																																																																			TMEM17	-	NULL	ENSG00000186889		0.423	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM17	HGNC	protein_coding	OTTHUMT00000251618.3	-	0	63	0	T	NM_198276		62728353	-1	tier1	-	no_errors	ENST00000335390	ensembl	human	known	74_37	silent	16.79	109	22	SNP	1.000	C	C	62728353	T	C	62728353	2	2	51	1	0	0	0	0	0	0	0	1	16132	1606	56	4		4	TMEM17	2	62728353	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	28978847	62728353	180471020	32	12113											
ETAA1	54465	genome.wustl.edu	37	chr2	67630792	67630792	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaggagaaaatcattacTaatgaaactctggtcattga	18	10	8	5	0	3	4	2	2	1	2	3	5	3	4	0	2	2	0	0	2	6	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:67630792T>G	ENST00000272342.5	+	5	1108	c.978T>G	c.(976-978)acT>acG	p.T326T	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	326						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AAATCATTACTAATGAAACTC	0.383																																																	0													52	55	54					2																	67630792		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.978T>G	2.37:g.67630792T>G			Q05BT7|Q53SC4	Silent	SNP	NULL	p.T326	ENST00000272342.5	37	c.978	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.383	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	40	0	T	NM_019002		67630792	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	silent	20.00	36	9	SNP	0.002	G	G	67630792	T	G	67630792	2	3	51	1	0	0	0	0	0	0	0	1	5283	1509	53	4		4	ETAA1	2	67630792	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	4902439	67630792	175568581	33	12114											
CCT7	10574	genome.wustl.edu	37	chr2	73470141	73470141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttccaggtgggtgatGgcaccacctcagtgaccttg	7	11	11	12	0	3	2	2	2	1	0	4	2	4	2	4	3	0	1	4	3	0	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:73470141G>T	ENST00000258091.5	+	4	418	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	CCT7_ENST00000539919.1_Missense_Mutation_p.G49C|CCT7_ENST00000537131.1_Intron|CCT7_ENST00000540468.1_Missense_Mutation_p.G6C|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000473786.1_3'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	93					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GGTGGGTGATGGCACCACCTC	0.478																																																	0													73	71	71					2																	73470141		1944	4145	6089	SO:0001583	missense	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.277G>T	2.37:g.73470141G>T	ENSP00000258091:p.Gly93Cys		A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.G93C	ENST00000258091.5	37	c.277	CCDS46336.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549533	0.86127	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000399032	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	4.7	4.7	0.59300	Chaperonin TCP-1, conserved site (1);	0.102143	0.64402	D	0.000003	T	0.79661	0.4484	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.88389	0.3007	10	0.87932	D	0	-3.5919	15.5125	0.75795	0.0:0.0:1.0:0.0	.	6;93	B7Z4Z7;Q99832	.;TCPH_HUMAN	C	6;49;93;49	ENSP00000442058:G6C;ENSP00000437824:G49C;ENSP00000258091:G93C;ENSP00000412996:G49C	ENSP00000258091:G93C	G	+	1	0	CCT7	73323649	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.503000	0.97984	2.603000	0.88011	0.462000	0.41574	GGC	CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	ENSG00000135624		0.478	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	-	0	65	0	G			73470141	1	tier1	-	no_errors	ENST00000258091	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	73470141	G	T	73470141	3	4	51	1	0	0	0	0	1	0	0	0	2966	1348	47	3	291	3	CCT7	2	73470141	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	5839349	73470141	169729232	34	12115											
TGOLN2	10618	genome.wustl.edu	37	chr2	85553791	85553791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccgaaagtgtcccttcaCggttctcactggaggcagaa	11	9	10	11	2	2	1	2	0	1	1	5	3	4	2	2	3	0	2	2	3	3	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:85553791C>T	ENST00000409232.3	-	2	1125	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	TGOLN2_ENST00000398263.2_Missense_Mutation_p.R297H|TGOLN2_ENST00000282120.2_Missense_Mutation_p.R199H|TGOLN2_ENST00000377386.3_Missense_Mutation_p.R355H|TGOLN2_ENST00000444342.2_Missense_Mutation_p.R355H|TGOLN2_ENST00000409015.1_Missense_Mutation_p.R355H			O43493	TGON2_HUMAN	trans-golgi network protein 2	355						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TGTCCCTTCACGGTTCTCACT	0.532																																																	0													89	87	87					2																	85553791		1887	4123	6010	SO:0001583	missense	0			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1064G>A	2.37:g.85553791C>T	ENSP00000386443:p.Arg355His		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	NULL	p.R355H	ENST00000409232.3	37	c.1064	CCDS56126.1	2	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670303	0.67814	.	.	ENSG00000152291	ENST00000377386;ENST00000282120;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T;T	0.13089	2.85;2.66;2.62;2.86;2.85;2.85	4.06	-6.11	0.02131	.	.	.	.	.	T	0.20981	0.0505	L	0.55481	1.735	0.09310	N	1	D;D;D;P	0.89917	1.0;1.0;0.999;0.559	D;D;D;B	0.67900	0.952;0.952;0.954;0.06	T	0.07927	-1.0747	9	0.56958	D	0.05	-1.6813	3.3761	0.07238	0.1255:0.1773:0.1244:0.5728	.	355;355;297;355	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	H	355;199;297;355;355;355	ENSP00000366603:R355H;ENSP00000282120:R199H;ENSP00000381312:R297H;ENSP00000386443:R355H;ENSP00000387035:R355H;ENSP00000391190:R355H	ENSP00000282120:R199H	R	-	2	0	TGOLN2	85407302	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-2.480000	0.00983	-1.238000	0.02535	-0.140000	0.14226	CGT	TGOLN2	-	NULL	ENSG00000152291		0.532	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	-	0	63	0	C	NM_006464		85553791	-1	tier1	-	no_errors	ENST00000377386	ensembl	human	known	74_37	missense	49.46	47	46	SNP	0.000	T	T	85553791	C	T	85553791	3	4	51	1	0	0	0	0	1	0	0	0	15883	536	19	1	261	1	TGOLN2	2	85553791	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	12083650	85553791	157645582	35	12116											
VWA3B	200403	genome.wustl.edu	37	chr2	98851174	98851174	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctcagcttgcagtgAaaggaaggatggcctctcca	11	7	13	10	0	2	1	1	1	1	0	3	4	2	4	2	4	3	3	2	4	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:98851174A>T	ENST00000477737.1	+	17	2576	c.2372A>T	c.(2371-2373)gAa>gTa	p.E791V		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	791										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCTTGCAGTGAAAGGAAGGAT	0.527																																																	0													75	78	77					2																	98851174		2012	4188	6200	SO:0001583	missense	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2372A>T	2.37:g.98851174A>T	ENSP00000417955:p.Glu791Val		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E791V	ENST00000477737.1	37	c.2372	CCDS42718.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.80|13.80	2.344848|2.344848	0.41498|0.41498	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000477737|ENST00000473149	T|.	0.06608|.	3.28|.	4.47|4.47	-6.89|-6.89	0.01660|0.01660	.|.	0.511994|.	0.17756|.	N|.	0.163058|.	T|.	0.28366|.	0.0701|.	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	P;B;B;B|.	0.38020|.	0.615;0.091;0.358;0.007|.	B;B;B;B|.	0.40256|.	0.324;0.024;0.153;0.012|.	T|.	0.34825|.	-0.9813|.	10|.	0.46703|.	T|.	0.11|.	.|.	2.2965|2.2965	0.04152|0.04152	0.2152:0.275:0.3746:0.1352|0.2152:0.275:0.3746:0.1352	.|.	183;791;791;791|.	Q502W6-5;Q502W6;Q502W6-8;Q502W6-6|.	.;VWA3B_HUMAN;.;.|.	V|C	791|201	ENSP00000417955:E791V|.	ENSP00000417955:E791V|.	E|X	+|+	2|3	0|0	VWA3B|VWA3B	98217606|98217606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.277000|0.277000	0.26821|0.26821	-0.061000|-0.061000	0.11693|0.11693	-1.005000|-1.005000	0.03417|0.03417	0.397000|0.397000	0.26171|0.26171	GAA|TGA	VWA3B	-	NULL	ENSG00000168658		0.527	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	-	0	54	0	A	NM_144992		98851174	1	tier1	-	no_errors	ENST00000477737	ensembl	human	known	74_37	missense	21.62	58	16	SNP	0.000	T	T	98851174	A	T	98851174	3	4	51	1	0	0	0	0	1	0	0	0	17290	246	9	5	2434	5	VWA3B	2	98851174	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	13297383	98851174	144348199	36	12117											
AFF3	3899	genome.wustl.edu	37	chr2	100623364	100623364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgcttggccgccatGgcaggtggcctctcctgggt	2	11	15	13	1	1	0	0	0	1	0	2	0	1	0	4	5	2	3	4	5	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:100623364G>A	ENST00000409236.2	-	5	715	c.603C>T	c.(601-603)gcC>gcT	p.A201A	AFF3_ENST00000409579.1_Silent_p.A226A|AFF3_ENST00000356421.2_Silent_p.A226A|AFF3_ENST00000317233.4_Silent_p.A201A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	201					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGCCGCCATGGCAGGTGGCC	0.587																																																	0													73	75	74					2																	100623364		2203	4300	6503	SO:0001819	synonymous_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.603C>T	2.37:g.100623364G>A			B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	pfam_TF_AF4/FMR2	p.A226	ENST00000409236.2	37	c.678	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.587	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	-	0	14	0	G	NM_002285		100623364	-1	tier1	-	no_errors	ENST00000356421	ensembl	human	known	74_37	silent	25.00	21	7	SNP	0.001	A	A	100623364	G	A	100623364	2	1	51	1	0	0	0	0	0	0	0	1	358	1335	47	3		3	AFF3	2	100623364	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1772190	100623364	142576009	37	12118											
LRP1B	53353	genome.wustl.edu	37	chr2	141643766	141643766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacaacatctgtccaataaAgtaaactttgattgaagtga	16	12	6	7	0	1	3	0	3	1	0	2	3	2	3	1	0	3	1	1	0	8	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:141643766A>C	ENST00000389484.3	-	24	4876	c.3905T>G	c.(3904-3906)cTt>cGt	p.L1302R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1302					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTCCAATAAAGTAAACTTTG	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													74	76	75					2																	141643766		2202	4298	6500	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3905T>G	2.37:g.141643766A>C	ENSP00000374135:p.Leu1302Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L1302R	ENST00000389484.3	37	c.3905	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	26.7	4.758554	0.89843	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.97888	-3.38;-4.59	5.68	5.68	0.88126	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000005	D	0.99001	0.9659	M	0.93062	3.375	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.99616	1.0982	10	0.87932	D	0	.	15.9351	0.79698	1.0:0.0:0.0:0.0	.	485;1302	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	R	1302;1240;447	ENSP00000374135:L1302R;ENSP00000413239:L447R	ENSP00000374135:L1302R	L	-	2	0	LRP1B	141360236	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.124000	0.94394	2.159000	0.67721	0.528000	0.53228	CTT	LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	92	0	A	NM_018557		141643766	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	16.53	100	20	SNP	1.000	C	C	141643766	A	C	141643766	3	2	51	1	0	0	0	0	1	0	0	0	8990	72	3	4	10166	4	LRP1B	2	141643766	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	41020402	141643766	101555607	38	12119											
EPC2	26122	genome.wustl.edu	37	chr2	149519397	149519397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaagatgttgaaactgaGacgagaatttagtagagcca	17	9	11	4	1	0	6	0	3	0	4	0	8	0	6	1	0	2	2	1	0	6	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:149519397G>A	ENST00000258484.6	+	5	747	c.713G>A	c.(712-714)aGa>aAa	p.R238K		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	238					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTGAAACTGAGACGAGAATTT	0.299																																																	0													64	57	59					2																	149519397		1804	4066	5870	SO:0001583	missense	0			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.713G>A	2.37:g.149519397G>A	ENSP00000258484:p.Arg238Lys		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.R238K	ENST00000258484.6	37	c.713	CCDS46422.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.172587	0.97348	.	.	ENSG00000135999	ENST00000258484	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.82797	0.5115	M	0.79343	2.45	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.83243	-0.0057	9	0.87932	D	0	-4.2919	20.5182	0.99214	0.0:0.0:1.0:0.0	.	238	Q52LR7	EPC2_HUMAN	K	238	.	ENSP00000258484:R238K	R	+	2	0	EPC2	149235867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.860000	0.98153	0.655000	0.94253	AGA	EPC2	-	NULL	ENSG00000135999		0.299	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPC2	HGNC	protein_coding	OTTHUMT00000332278.1	-	0	43	0	G	NM_015630		149519397	1	tier1	-	no_errors	ENST00000258484	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	A	A	149519397	G	A	149519397	3	1	51	1	0	0	0	0	1	0	0	0	5177	942	33	3	731	3	EPC2	2	149519397	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	7875631	149519397	93679976	39	12120											
CHRNA1	1134	genome.wustl.edu	37	chr2	175612893	175612893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtcgacctgcaaacaCggctagggttccgatgatgc	11	8	12	10	3	0	2	0	2	0	0	2	4	1	2	2	2	3	3	2	2	3	2	rs372104868		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:175612893C>T	ENST00000261007.5	-	10	1474	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	CHRNA1_ENST00000409542.1_Missense_Mutation_p.V363M|CHRNA1_ENST00000348749.5_Missense_Mutation_p.V445M|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V365M	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	470					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CCTGCAAACACGGCTAGGGTT	0.522													C|||	1	0.000199681	8e-04	0	5008	,	,		19730	0		0	False		,,,				2504	0																0								C	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	98	90	93		1333,1408	5.2	1	2		93	0,8600		0,0,4300	no	missense,missense	CHRNA1	NM_000079.3,NM_001039523.2	21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	445/458,470/483	175612893	1,13005	2203	4300	6503	SO:0001583	missense	0			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1955	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 1 (muscle)"	100690	"cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1408G>A	2.37:g.175612893C>T	ENSP00000261007:p.Val470Met		B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.V470M	ENST00000261007.5	37	c.1408	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368301	0.61513	2.27E-4	0.0	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-1.87	5.24	5.24	0.73138	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	L	0.56199	1.76	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.67382	0.936;0.951	D	0.89969	0.4092	10	0.48119	T	0.1	.	19.1987	0.93701	0.0:1.0:0.0:0.0	.	445;470	Q53SH4;P02708	.;ACHA_HUMAN	M	445;470;363;365	ENSP00000261008:V445M;ENSP00000261007:V470M;ENSP00000387026:V363M;ENSP00000386611:V365M	ENSP00000261007:V470M	V	-	1	0	CHRNA1	175321139	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.737000	0.62066	2.607000	0.88179	0.655000	0.94253	GTG	CHRNA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000138435		0.522	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	-	0	31	0	C			175612893	-1	tier1	-	no_errors	ENST00000261007	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	T	T	175612893	C	T	175612893	3	4	51	1	0	0	0	0	1	0	0	0	3388	536	19	1	44	1	CHRNA1	2	175612893	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	26093496	175612893	67586480	40	12121											
TTN	7273	genome.wustl.edu	37	chr2	179539829	179539829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttcttccaccttcttagGcacctcaggaacttgagaga	9	14	7	11	0	3	2	1	1	2	1	4	4	4	3	3	2	1	1	3	2	2	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:179539829G>C	ENST00000591111.1	-	146	33651	c.33427C>G	c.(33427-33429)Cct>Gct	p.P11143A	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10216A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11517A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	11143	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTCTTAGGCACCTCAGGA	0.353																																																	0													90	86	87					2																	179539829		1837	4081	5918	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33427C>G	2.37:g.179539829G>C	ENSP00000465570:p.Pro11143Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P10216A	ENST00000591111.1	37	c.30646		2	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576059	0.28092	.	.	ENSG00000155657	ENST00000342992	T	0.71103	-0.54	5.6	4.71	0.59529	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.62183	0.2407	L	0.33339	1.005	0.80722	D	1	B	0.16603	0.018	B	0.18871	0.023	T	0.60627	-0.7226	9	0.87932	D	0	.	14.5832	0.68305	0.0722:0.0:0.9278:0.0	.	11143	Q8WZ42	TITIN_HUMAN	A	10216	ENSP00000343764:P10216A	ENSP00000343764:P10216A	P	-	1	0	TTN	179248074	0.471000	0.25862	1.000000	0.80357	0.551000	0.35334	1.411000	0.34702	1.334000	0.45468	0.557000	0.71058	CCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	46	0	G	NM_133378		179539829	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.87	44	17	SNP	0.998	C	C	179539829	G	C	179539829	3	2	51	1	0	0	0	0	1	0	0	0	16784	1203	42	5	70011	5	TTN	2	179539829	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3926936	179539829	63659544	41	12122											
MSTN	2660	genome.wustl.edu	37	chr2	190922215	190922215	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttatatcttttaggagcGataatccaatcccatccaaa	13	12	5	11	1	1	0	0	0	1	0	4	2	4	1	4	1	1	0	4	1	6	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:190922215G>T	ENST00000260950.4	-	3	1029	c.897C>A	c.(895-897)atC>atA	p.I299I	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	299					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTTAGGAGCGATAATCCAAT	0.408																																																	0													94	89	91					2																	190922215		2203	4300	6503	SO:0001819	synonymous_variant	0			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.897C>A	2.37:g.190922215G>T			A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.I299	ENST00000260950.4	37	c.897	CCDS2303.1	2																																																																																			MSTN	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000138379		0.408	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2		0	28	0	G	NM_005259		190922215	-1			no_errors	ENST00000260950	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.992	T	T	190922215	G	T	190922215	2	4	51	1	0	0	0	0	0	0	0	1	9931	1048	37	2		2	MSTN	2	190922215	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	11382386	190922215	52277158	42	12123											
BOLL	66037	genome.wustl.edu	37	chr2	198636637	198636638	+	Missense_Mutation	DNP	TG	TG	CT																															gaaaataagcaacaccattaTggtaagtataaggatatcca																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:198636637_198636638TG>CT	ENST00000392296.4	-	6	730_731	c.421_422CA>AG	c.(421-423)CAt>AGt	p.H141S	BOLL_ENST00000321801.7_Missense_Mutation_p.H153S|BOLL_ENST00000430004.1_Missense_Mutation_p.H141S|BOLL_ENST00000282278.8_Missense_Mutation_p.H32S|AC011997.1_ENST00000409845.1_Splice_Site_p.M73T|BOLL_ENST00000433157.1_Missense_Mutation_p.H141S	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	141					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AACACCATTATGGTAAGTATAA	0.337																																																	0																																										SO:0001583	missense	0				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"RNA binding motif (RRM) containing"	14273	protein-coding gene	gene with protein product		606165	"bol (Drosophila boule homolog)-like", "bol, boule-like (Drosophila)"			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.421_422delinsCT	2.37:g.198636637_198636638delinsCT	ENSP00000376116:p.His141Ser		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.H153R|p.H153N	ENST00000392296.4	37	c.458|c.457	CCDS2325.1	2																																																																																			BOLL	-	NULL	ENSG00000152430		0.337	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	-	0	35	0	T|G	NM_033030		198636637|198636638	-1	tier1	-	no_errors	ENST00000321801	ensembl	human	known	74_37	missense	50.00|51.16	21	21|22	SNP	1.000	C|T	CT	198636638	TG	CT	198636637	3	2	51	1	0	0	0	0	1	0	0	0	1491	1464	51	4	453	4	BOLL	2	198636637	Missense_Mutation	DNP	TG	TCGA-L5-A43I-01A-11D-A247-09	7714422	198636637	44562736	43	12124											
ERBB4	2066	genome.wustl.edu	37	chr2	212587123	212587123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctgttacttacgtggaCatttcttgacacagaatgct	10	16	7	8	1	2	2	0	1	2	1	2	3	2	3	0	1	3	2	0	1	4	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:212587123C>T	ENST00000342788.4	-	7	1188	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.C293Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.C293Y|ERBB4_ENST00000484474.1_5'Flank	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	293	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.C293F(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTTACGTGGACATTTCTTGAC	0.323										TSP Lung(8;0.080)																																							1	Substitution - Missense(1)	kidney(1)											157	143	147					2																	212587123		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.878G>A	2.37:g.212587123C>T	ENSP00000342235:p.Cys293Tyr		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C293Y	ENST00000342788.4	37	c.878	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.519600|4.519600	0.85495|0.85495	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.70399|.	-0.48;-0.48;-0.48|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88463|0.88463	0.6443|0.6443	H|H	0.96111|0.96111	3.77|3.77	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.999;0.993;1.0;1.0|.	D|D	0.91549|0.91549	0.5255|0.5255	10|5	0.87932|.	D|.	0|.	.|.	19.7763|19.7763	0.96395|0.96395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	293;293;152;293;293|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	Y|I	293|293	ENSP00000342235:C293Y;ENSP00000403204:C293Y;ENSP00000385565:C293Y|.	ENSP00000342235:C293Y|.	C|V	-|-	2|1	0|0	ERBB4|ERBB4	212295368|212295368	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.981000|0.981000	0.71138|0.71138	7.756000|7.756000	0.85195|0.85195	2.684000|2.684000	0.91462|0.91462	0.650000|0.650000	0.86243|0.86243	TGT|GTC	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000178568		0.323	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	64	0	C	NM_001042599		212587123	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	43.84	41	32	SNP	1.000	T	T	212587123	C	T	212587123	3	4	51	1	0	0	0	0	1	0	0	0	5225	478	17	3	3136	3	ERBB4	2	212587123	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	13950486	212587123	30612250	44	12125											
ANKZF1	55139	genome.wustl.edu	37	chr2	220099955	220099955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggctccggtggctttactCtcctgcatgcagcagctgca	5	11	12	13	1	1	0	0	0	1	0	3	0	2	0	2	3	6	7	2	3	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr2:220099955C>T	ENST00000323348.5	+	10	1786	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	ANKZF1_ENST00000410034.3_Missense_Mutation_p.L538F|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.L328F	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	538						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCTTTACTCTCCTGCATGC	0.587																																																	0													55	58	57					2																	220099955		1998	4172	6170	SO:0001583	missense	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"Zinc fingers, C2H2-type", "Ankyrin repeat domain containing"	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1612C>T	2.37:g.220099955C>T	ENSP00000321617:p.Leu538Phe		Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L538F	ENST00000323348.5	37	c.1612	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790276	0.70337	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.65549	-0.16;-0.16;-0.16	5.26	5.26	0.73747	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	L	0.33624	1.015	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.69339	-0.5171	10	0.44086	T	0.13	-14.932	16.1854	0.81948	0.0:1.0:0.0:0.0	.	538	Q9H8Y5	ANKZ1_HUMAN	F	538;328;538	ENSP00000321617:L538F;ENSP00000386815:L328F;ENSP00000386337:L538F	ENSP00000321617:L538F	L	+	1	0	ANKZF1	219808199	0.974000	0.33945	0.975000	0.42487	0.996000	0.88848	2.287000	0.43505	2.746000	0.94184	0.655000	0.94253	CTC	ANKZF1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000163516		0.587	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	-	0	32	0	C	NM_018089		220099955	1	tier1	-	no_errors	ENST00000323348	ensembl	human	known	74_37	missense	52.46	29	32	SNP	0.992	T	T	220099955	C	T	220099955	3	4	51	1	0	0	0	0	1	0	0	0	693	913	32	3	1646	3	ANKZF1	2	220099955	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	7512832	220099955	23099418	45	12126											
NUP210	23225	genome.wustl.edu	37	chr3	13415268	13415268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatgtgcctggatcaCactgaacccgatgtcactgc	10	9	8	14	1	3	1	3	1	0	0	3	3	3	2	2	1	3	0	2	1	1	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:13415268C>A	ENST00000254508.5	-	12	1619	c.1537G>T	c.(1537-1539)Gtg>Ttg	p.V513L		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	513					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCTGGATCACACTGAACCCG	0.572																																																	0													165	119	135					3																	13415268		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1537G>T	3.37:g.13415268C>A	ENSP00000254508:p.Val513Leu		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.V513L	ENST00000254508.5	37	c.1537	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049032	0.36181	.	.	ENSG00000132182	ENST00000254508	T	0.44881	0.91	5.62	4.74	0.60224	Invasin/intimin cell-adhesion (1);	0.140250	0.47852	D	0.000215	T	0.43188	0.1236	M	0.76002	2.32	0.49798	D	0.999825	B;B	0.31318	0.319;0.214	B;B	0.34301	0.179;0.087	T	0.32613	-0.9900	10	0.30854	T	0.27	.	9.5414	0.39255	0.0:0.7959:0.0:0.2041	.	513;513	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	L	513	ENSP00000254508:V513L	ENSP00000254508:V513L	V	-	1	0	NUP210	13390268	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	1.605000	0.36815	1.356000	0.45884	0.655000	0.94253	GTG	NUP210	-	superfamily_Invasin/intimin_cell_adhesion	ENSG00000132182		0.572	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	42	0	C	NM_024923		13415268	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	13415268	C	A	13415268	3	1	51	1	0	0	0	0	1	0	0	0	10799	478	17	3	4242	3	NUP210	3	13415268	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09		13415268	184607162	46	12127											
SLC4A7	9497	genome.wustl.edu	37	chr3	27427485	27427485	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgtgaaacacaggtccatGagtttgcgcacaaacactaa	14	9	8	10	2	0	2	0	2	0	0	2	2	1	2	1	1	3	2	1	1	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:27427485G>C	ENST00000295736.5	-	23	3433	c.3363C>G	c.(3361-3363)ctC>ctG	p.L1121L	SLC4A7_ENST00000446700.1_Silent_p.L1113L|SLC4A7_ENST00000437179.1_Silent_p.L1002L|SLC4A7_ENST00000454389.1_Silent_p.L1130L|SLC4A7_ENST00000435667.2_Silent_p.L1006L|SLC4A7_ENST00000428386.1_Silent_p.L997L|SLC4A7_ENST00000388777.4_Silent_p.L671L|SLC4A7_ENST00000455077.1_Silent_p.L1002L|SLC4A7_ENST00000440156.1_Silent_p.L1117L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Silent_p.L1117L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1121					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ACAGGTCCATGAGTTTGCGCA	0.343																																																	0													117	126	123					3																	27427485		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3363C>G	3.37:g.27427485G>C			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.L1130	ENST00000295736.5	37	c.3390	CCDS33721.1	3																																																																																			SLC4A7	-	tigrfam_HCO3_transpt_euk	ENSG00000033867		0.343	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	-	0	68	0	G	NM_003615		27427485	-1	tier1	-	no_errors	ENST00000454389	ensembl	human	known	74_37	silent	18.10	86	19	SNP	0.999	C	C	27427485	G	C	27427485	2	2	51	1	0	0	0	0	0	0	0	1	14703	1277	45	5		5	SLC4A7	3	27427485	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	14012217	27427485	170594945	47	12128											
SCN5A	6331	genome.wustl.edu	37	chr3	38592535	38592535	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctctcctccgtggccacGctgaagttctccaggatgat	6	11	11	13	2	2	2	0	2	2	0	5	3	3	3	4	2	1	3	4	2	1	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:38592535G>A	ENST00000333535.4	-	28	5477	c.5328C>T	c.(5326-5328)agC>agT	p.S1776S	SCN5A_ENST00000450102.2_Silent_p.S1722S|SCN5A_ENST00000425664.1_Silent_p.S1758S|SCN5A_ENST00000443581.1_Silent_p.S1775S|SCN5A_ENST00000414099.2_Silent_p.S1758S|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Silent_p.S1722S|SCN5A_ENST00000449557.2_Silent_p.S1722S|SCN5A_ENST00000413689.1_Silent_p.S1776S|SCN5A_ENST00000455624.2_Silent_p.S1743S|SCN5A_ENST00000423572.2_Silent_p.S1775S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1776					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCGTGGCCACGCTGAAGTTCT	0.527																																																	0													102	102	102					3																	38592535		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5328C>T	3.37:g.38592535G>A			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.S1776	ENST00000333535.4	37	c.5328	CCDS46796.1	3																																																																																			SCN5A	-	pfam_PKD1_2_channel	ENSG00000183873		0.527	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	55	0	G	NM_198056		38592535	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	silent	29.67	64	27	SNP	0.995	A	A	38592535	G	A	38592535	2	1	51	1	0	0	0	0	0	0	0	1	13967	1078	38	1		1	SCN5A	3	38592535	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	11165050	38592535	159429895	48	12129											
SCN5A	6331	genome.wustl.edu	37	chr3	38592950	38592950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcggatccccttggcccctCggatcagtctgaggatgcgg	5	9	14	13	3	2	1	1	1	1	0	4	4	3	4	4	5	2	0	4	5	0	1	rs374557801		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:38592950C>T	ENST00000333535.4	-	28	5062	c.4913G>A	c.(4912-4914)cGa>cAa	p.R1638Q	SCN5A_ENST00000450102.2_Missense_Mutation_p.R1584Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1620Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1637Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1620Q|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1584Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1584Q|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1638Q|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1605Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1637Q			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGGCCCCTCGGATCAGTCT	0.592																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	108	109	109		4910,4913,4859,4814,4751,4913	4.5	1	3		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1637/2016,1638/2017,1620/1999,1605/1984,1584/1963,1638/2017	38592950	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4913G>A	3.37:g.38592950C>T	ENSP00000328968:p.Arg1638Gln		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.R1638Q	ENST00000333535.4	37	c.4913	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020928	0.75275	0.0	1.16E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	4.54	4.54	0.55810	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98792	0.9593	M	0.74467	2.265	0.42234	D	0.991906	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.996	D;D;D;D;D;P	0.81914	0.983;0.994;0.995;0.978;0.991;0.811	D	0.99167	1.0863	10	0.87932	D	0	.	11.0403	0.47827	0.0:0.9149:0.0:0.0851	.	1584;1605;1620;1638;1637;1638	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	Q	1620;1637;1638;1584;1637;1620;1638;1605;1584;1584	ENSP00000398962:R1620Q;ENSP00000398266:R1637Q;ENSP00000410257:R1638Q;ENSP00000388797:R1584Q;ENSP00000397915:R1637Q;ENSP00000416634:R1620Q;ENSP00000328968:R1638Q;ENSP00000399524:R1605Q;ENSP00000403355:R1584Q;ENSP00000413996:R1584Q	ENSP00000328968:R1638Q	R	-	2	0	SCN5A	38567954	0.994000	0.37717	0.996000	0.52242	0.981000	0.71138	3.188000	0.50958	2.353000	0.79882	0.561000	0.74099	CGA	SCN5A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	35	0	C	NM_198056		38592950	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	16.85	74	15	SNP	0.997	T	T	38592950	C	T	38592950	3	4	51	1	0	0	0	0	1	0	0	0	13967	884	31	1	1141	1	SCN5A	3	38592950	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	415	38592950	159429480	49	12130											
CCDC13	152206	genome.wustl.edu	37	chr3	42775004	42775004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatcgcctgctgaggccGgggacttggtcaggcctggg	5	8	17	11	2	1	2	1	2	0	0	2	3	1	3	3	6	1	1	3	6	0	1	rs139169922		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:42775004G>A	ENST00000310232.6	-	11	1552	c.1469C>T	c.(1468-1470)cCg>cTg	p.P490L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	490										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TGCTGAGGCCGGGGACTTGGT	0.547																																																	0								G	LEU/PRO	0,4406		0,0,2203	123	135	131		1469	3.8	0.2	3	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC13	NM_144719.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	490/716	42775004	1,13005	2203	4300	6503	SO:0001583	missense	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1469C>T	3.37:g.42775004G>A	ENSP00000309836:p.Pro490Leu			Missense_Mutation	SNP	superfamily_Prefoldin	p.P490L	ENST00000310232.6	37	c.1469	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	G	6.626	0.483906	0.12581	0.0	1.16E-4	ENSG00000244607	ENST00000310232	T	0.12465	2.68	5.58	3.8	0.43715	.	0.331866	0.25968	N	0.027151	T	0.09730	0.0239	L	0.32530	0.975	0.22911	N	0.998575	B	0.26041	0.14	B	0.20767	0.031	T	0.28332	-1.0047	10	0.27082	T	0.32	.	8.7806	0.34789	0.1736:0.0:0.8264:0.0	.	490	Q8IYE1	CCD13_HUMAN	L	490	ENSP00000309836:P490L	ENSP00000309836:P490L	P	-	2	0	CCDC13	42750008	0.957000	0.32711	0.247000	0.24249	0.276000	0.26787	2.035000	0.41155	0.727000	0.32360	0.655000	0.94253	CCG	CCDC13	-	NULL	ENSG00000244607		0.547	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	-	0	41	0	G	NM_144719		42775004	-1	tier1	rs139169922	no_errors	ENST00000310232	ensembl	human	known	74_37	missense	19.81	85	21	SNP	0.144	A	A	42775004	G	A	42775004	3	1	51	1	0	0	0	0	1	0	0	0	2772	1116	39	1	702	1	CCDC13	3	42775004	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	4182054	42775004	155247426	50	12131											
MAP4	4134	genome.wustl.edu	37	chr3	47896781	47896781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggcccacattatcgaggGatcccaccttggcctgggcc	6	8	13	14	1	0	0	0	0	0	0	2	2	1	1	5	5	0	0	5	5	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:47896781G>T	ENST00000360240.6	-	17	3736	c.3218C>A	c.(3217-3219)tCc>tAc	p.S1073Y	MAP4_ENST00000441748.2_Missense_Mutation_p.S187Y|MAP4_ENST00000383737.4_Missense_Mutation_p.S732Y|MAP4_ENST00000395734.3_Missense_Mutation_p.S1073Y|MAP4_ENST00000420772.2_Missense_Mutation_p.S766Y|MAP4_ENST00000264724.11_Missense_Mutation_p.S808Y|MAP4_ENST00000426837.2_Missense_Mutation_p.S2218Y	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	1073					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	ATTATCGAGGGATCCCACCTT	0.552																																																	0													244	202	217					3																	47896781		2203	4300	6503	SO:0001583	missense	0				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.3218C>A	3.37:g.47896781G>T	ENSP00000353375:p.Ser1073Tyr		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	pfam_MAP_tubulin-bd_rpt	p.S1073Y	ENST00000360240.6	37	c.3218	CCDS33750.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533151	0.85812	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748	D;D;D;D;D;D;D;D	0.99527	-6.09;-6.09;-6.09;-6.09;-6.09;-6.09;-6.09;-6.09	4.9	4.9	0.64082	.	.	.	.	.	D	0.99510	0.9825	M	0.85041	2.73	0.42913	D	0.994264	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.998;1.0;1.0;1.0;0.999;1.0	D	0.98319	1.0527	9	0.87932	D	0	-12.4825	15.3796	0.74645	0.0:0.0:1.0:0.0	.	766;1073;1073;808;732;2218	F8W9U4;P27816-6;P27816;E9PGM5;B9ZVR1;E7EVA0	.;.;MAP4_HUMAN;.;.;.	Y	732;808;1073;2218;1073;766;401;187	ENSP00000373243:S732Y;ENSP00000264724:S808Y;ENSP00000379083:S1073Y;ENSP00000407602:S2218Y;ENSP00000353375:S1073Y;ENSP00000409731:S766Y;ENSP00000334770:S401Y;ENSP00000415130:S187Y	ENSP00000264724:S808Y	S	-	2	0	MAP4	47871785	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.706000	0.91362	2.552000	0.86080	0.561000	0.74099	TCC	MAP4	-	pfam_MAP_tubulin-bd_rpt	ENSG00000047849		0.552	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1		0	43	0	G	NM_002375		47896781	-1			no_errors	ENST00000360240	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	47896781	G	T	47896781	3	4	51	1	0	0	0	0	1	0	0	0	9296	1174	41	3	403	3	MAP4	3	47896781	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	5121777	47896781	150125649	51	12132											
PLXNB1	5364	genome.wustl.edu	37	chr3	48465421	48465421	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcttggctgtctcctcAtaggagaaggcagcttgggg	7	9	15	10	0	2	1	1	0	1	1	3	2	2	1	2	5	2	4	2	5	2	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:48465421A>T	ENST00000358536.4	-	3	869	c.600T>A	c.(598-600)taT>taA	p.Y200*	PLXNB1_ENST00000456774.1_Nonsense_Mutation_p.Y200*|PLXNB1_ENST00000296440.6_Nonsense_Mutation_p.Y200*|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Nonsense_Mutation_p.Y200*	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	200	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCTCCTCATAGGAGAAGG	0.652																																																	0													14	16	15					3																	48465421		2201	4300	6501	SO:0001587	stop_gained	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.600T>A	3.37:g.48465421A>T	ENSP00000351338:p.Tyr200*		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Y200*	ENST00000358536.4	37	c.600	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311221	0.60414	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	.	.	.	4.41	-2.57	0.06248	.	0.354098	0.26923	N	0.021819	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2822	0.49201	0.5298:0.0:0.4702:0.0	.	.	.	.	X	200	.	ENSP00000296440:Y200X	Y	-	3	2	PLXNB1	48440425	0.452000	0.25713	0.991000	0.47740	0.838000	0.47535	-0.237000	0.08990	-0.524000	0.06400	-0.353000	0.07706	TAT	PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.652	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0	23	0	A	NM_002673		48465421	-1			no_errors	ENST00000296440	ensembl	human	known	74_37	nonsense	23.68	29	9	SNP	0.990	T	T	48465421	A	T	48465421	4	4	51	1	0	0	0	0	0	1	0	0	12162	224	8	5	5951	5	PLXNB1	3	48465421	Nonsense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	568640	48465421	149557009	52	12133											
BSN	8927	genome.wustl.edu	37	chr3	49699193	49699193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcgggaagggtggccacctCcggagcatggagagcaatgg	9	4	18	10	3	0	1	0	0	0	1	1	4	1	3	3	6	2	2	3	6	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:49699193C>T	ENST00000296452.4	+	6	10029	c.9915C>T	c.(9913-9915)ctC>ctT	p.L3305L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3305					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTGGCCACCTCCGGAGCATGG	0.597																																																	0													40	38	39					3																	49699193		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9915C>T	3.37:g.49699193C>T			O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.L3305	ENST00000296452.4	37	c.9915	CCDS2800.1	3																																																																																			BSN	-	NULL	ENSG00000164061		0.597	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0	32	0	C	NM_003458		49699193	1	tier1	-	no_errors	ENST00000296452	ensembl	human	known	74_37	silent	33.33	22	11	SNP	1.000	T	T	49699193	C	T	49699193	2	4	51	1	0	0	0	0	0	0	0	1	1534	842	30	3		3	BSN	3	49699193	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1233772	49699193	148323237	53	12134											
DNAH12	201625	genome.wustl.edu	37	chr3	57344830	57344830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttataatgagggtttTcaactatgtacagattataa	17	14	6	4	0	1	2	1	1	0	1	1	2	1	2	0	1	3	2	0	1	9	8			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:57344830T>C	ENST00000351747.2	-	52	8387	c.8207A>G	c.(8206-8208)gAa>gGa	p.E2736G	DNAH12_ENST00000344804.4_Missense_Mutation_p.E323G	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2736	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATGAGGGTTTTCAACTATGTA	0.398																																																	0													105	88	93					3																	57344830		692	1591	2283	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.8207A>G	3.37:g.57344830T>C	ENSP00000295937:p.Glu2736Gly		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E2736G	ENST00000351747.2	37	c.8207		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.43|15.43	2.830266|2.830266	0.50845|0.50845	.|.	.|.	ENSG00000174844|ENSG00000174844	ENST00000351747;ENST00000466540;ENST00000344804|ENST00000462199	T;T;T|.	0.10288|.	2.89;2.89;2.89|.	5.34|5.34	4.11|4.11	0.48088|0.48088	Dynein heavy chain (1);|.	0.282690|.	0.39210|.	N|.	0.001432|.	T|.	0.52224|.	0.1721|.	L|L	0.58302|0.58302	1.8|1.8	0.25828|0.25828	N|N	0.984207|0.984207	B;P|.	0.37423|.	0.003;0.594|.	B;P|.	0.48189|.	0.013;0.57|.	T|.	0.44528|.	-0.9322|.	10|.	0.41790|.	T|.	0.15|.	.|.	11.2517|11.2517	0.49031|0.49031	0.0:0.0:0.1529:0.8471|0.0:0.0:0.1529:0.8471	.|.	323;2736|.	Q6ZR08-2;Q6ZR08|.	.;DYH12_HUMAN|.	G|W	2736;381;323|426	ENSP00000295937:E2736G;ENSP00000420359:E381G;ENSP00000340464:E323G|.	ENSP00000340464:E323G|.	E|X	-|-	2|3	0|0	DNAH12|DNAH12	57319870|57319870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	3.240000|3.240000	0.51368|0.51368	2.012000|2.012000	0.59069|0.59069	0.533000|0.533000	0.62120|0.62120	GAA|TGA	DNAH12	-	pfam_Dynein_heavy_dom	ENSG00000174844		0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		-	0	51	0	T	NM_178504		57344830	-1	tier1	-	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	27.59	42	16	SNP	1.000	C	C	57344830	T	C	57344830	3	2	51	1	0	0	0	0	1	0	0	0	4614	1783	62	4	1103	4	DNAH12	3	57344830	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	7645637	57344830	140677600	54	12135											
PRICKLE2	166336	genome.wustl.edu	37	chr3	64084955	64084955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccaatcatactcggcGaagtagggtccccagcggtc	11	6	11	13	3	1	0	1	0	0	0	4	2	2	0	3	3	3	1	3	3	5	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:64084955G>T	ENST00000295902.6	-	8	2892	c.2307C>A	c.(2305-2307)ttC>ttA	p.F769L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.F825L|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	769					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F769F(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CATACTCGGCGAAGTAGGGTC	0.612																																																	1	Substitution - coding silent(1)	large_intestine(1)											64	67	66					3																	64084955		2203	4300	6503	SO:0001583	missense	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2307C>A	3.37:g.64084955G>T	ENSP00000295902:p.Phe769Leu		Q0VF44	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.F769L	ENST00000295902.6	37	c.2307	CCDS2902.1	3	.	.	.	.	.	.	.	.	.	.	G	2.784	-0.252881	0.05829	.	.	ENSG00000163637	ENST00000295902	D	0.84370	-1.84	5.57	1.15	0.20763	.	0.153155	0.46442	N	0.000300	T	0.73590	0.3606	L	0.36672	1.1	0.28166	N	0.928796	B	0.24258	0.1	B	0.19946	0.027	T	0.64659	-0.6355	10	0.59425	D	0.04	-27.9312	4.5515	0.12114	0.3692:0.1683:0.4625:0.0	.	769	Q7Z3G6	PRIC2_HUMAN	L	769	ENSP00000295902:F769L	ENSP00000295902:F769L	F	-	3	2	PRICKLE2	64059995	1.000000	0.71417	0.028000	0.17463	0.164000	0.22412	0.778000	0.26732	0.386000	0.24997	0.655000	0.94253	TTC	PRICKLE2	-	NULL	ENSG00000163637		0.612	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	HGNC	protein_coding	OTTHUMT00000352219.1		0	27	0	G	NM_198859		64084955	-1			no_errors	ENST00000295902	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.235	T	T	64084955	G	T	64084955	3	4	51	1	0	0	0	0	1	0	0	0	12529	1049	37	2	231	2	PRICKLE2	3	64084955	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	6740125	64084955	133937475	55	12136											
TMF1	7110	genome.wustl.edu	37	chr3	69079117	69079117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttcttctgtagctgcacGttctctctcaactgctgctg	5	15	9	12	1	4	0	1	0	4	0	6	1	4	0	0	0	5	7	0	0	2	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:69079117G>A	ENST00000398559.2	-	11	2659	c.2443C>T	c.(2443-2445)Cgt>Tgt	p.R815C	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.R818C|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	815					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTAGCTGCACGTTCTCTCTCA	0.423																																																	0													108	108	108					3																	69079117		1928	4144	6072	SO:0001583	missense	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2443C>T	3.37:g.69079117G>A	ENSP00000381567:p.Arg815Cys		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.R818C	ENST00000398559.2	37	c.2452	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590676	0.86851	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.24538	1.85;1.85	5.67	5.67	0.87782	.	0.049428	0.85682	D	0.000000	T	0.54743	0.1877	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.55636	-0.8110	10	0.66056	D	0.02	-8.2025	19.7602	0.96311	0.0:0.0:1.0:0.0	.	818;815	P82094-2;P82094	.;TMF1_HUMAN	C	815;818;731	ENSP00000381567:R815C;ENSP00000438706:R818C	ENSP00000348582:R731C	R	-	1	0	TMF1	69161807	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.580000	0.82523	2.661000	0.90470	0.591000	0.81541	CGT	TMF1	-	NULL	ENSG00000144747		0.423	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1		0	21	0	G	NM_007114		69079117	-1			no_errors	ENST00000543976	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	A	A	69079117	G	A	69079117	3	1	51	1	0	0	0	0	1	0	0	0	16275	1145	40	1	866	1	TMF1	3	69079117	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	4994162	69079117	128943313	56	12137											
SLC9A10	285335	genome.wustl.edu	37	chr3	111936291	111936291	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcaaaagcacttacttTgatgggccctctttttcctt	8	16	7	10	0	2	1	1	1	1	0	3	1	3	1	2	2	2	2	2	2	3	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:111936291T>A	ENST00000305815.5	-	15	2040	c.1788A>T	c.(1786-1788)tcA>tcT	p.S596S	SLC9C1_ENST00000487372.1_Silent_p.S548S	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	596					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GCACTTACTTTGATGGGCCCT	0.289																																																	0													103	106	105					3																	111936291		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1788A>T	3.37:g.111936291T>A			Q6ZRP4|Q7RTP2	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.S596	ENST00000305815.5	37	c.1788	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.289	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	-	0	59	0	T	NM_183061		111936291	-1	tier1	-	no_errors	ENST00000305815	ensembl	human	known	74_37	silent	36.84	24	14	SNP	0.999	A	A	111936291	T	A	111936291	2	1	51	1	0	0	0	0	0	0	0	1	14755	1799	63	5		5	SLC9A10	3	111936291	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	42857174	111936291	86086139	57	12138											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133144	119133144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgctcctccccctccaactCctctggaggagtcaactcca	7	9	6	19	0	2	0	1	0	1	0	7	2	7	2	6	2	3	1	6	2	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:119133144C>G	ENST00000264245.4	+	12	2900	c.2368C>G	c.(2368-2370)Cct>Gct	p.P790A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	790	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCCTCCAACTCCTCTGGAGGA	0.527																																					Pancreas(7;176 297 5394 51128 51241)												0													52	54	54					3																	119133144		1905	4110	6015	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2368C>G	3.37:g.119133144C>G	ENSP00000264245:p.Pro790Ala		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P790A	ENST00000264245.4	37	c.2368	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433123	0.25813	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05717	3.4	5.3	2.56	0.30785	.	0.527413	0.17660	N	0.166360	T	0.04724	0.0128	L	0.32530	0.975	0.09310	N	1	B	0.30406	0.278	B	0.24974	0.057	T	0.39502	-0.9611	10	0.34782	T	0.22	.	6.609	0.22741	0.0:0.6165:0.0:0.3835	.	790	Q2M1Z3	RHG31_HUMAN	A	790	ENSP00000264245:P790A	ENSP00000264245:P790A	P	+	1	0	ARHGAP31	120615834	0.000000	0.05858	0.185000	0.23176	0.907000	0.53573	0.271000	0.18626	0.386000	0.24997	0.655000	0.94253	CCT	ARHGAP31	-	NULL	ENSG00000031081		0.527	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2		0	26	0	C			119133144	1			no_errors	ENST00000264245	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.009	G	G	119133144	C	G	119133144	3	3	51	1	0	0	0	0	1	0	0	0	880	855	30	5	2414	5	ARHGAP31	3	119133144	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	7196853	119133144	78889286	58	12139											
ATP2C1	27032	genome.wustl.edu	37	chr3	130672710	130672710	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcttgacaggtgagacaAcgccttgttctaaggtgaca	11	9	11	10	1	1	3	0	3	1	1	1	4	1	3	2	2	2	2	2	2	2	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:130672710A>C	ENST00000510168.1	+	9	1127	c.577A>C	c.(577-579)Acg>Ccg	p.T193P	ATP2C1_ENST00000513801.1_Missense_Mutation_p.T177P|ATP2C1_ENST00000393221.4_Missense_Mutation_p.T227P|ATP2C1_ENST00000533801.2_Missense_Mutation_p.T188P|ATP2C1_ENST00000428331.2_Missense_Mutation_p.T193P|ATP2C1_ENST00000359644.3_Missense_Mutation_p.T193P|ATP2C1_ENST00000504948.1_Missense_Mutation_p.T177P|ATP2C1_ENST00000505330.1_Missense_Mutation_p.T177P|ATP2C1_ENST00000508532.1_Missense_Mutation_p.T193P|ATP2C1_ENST00000507488.2_Missense_Mutation_p.T177P|ATP2C1_ENST00000328560.8_Missense_Mutation_p.T193P|ATP2C1_ENST00000422190.2_Missense_Mutation_p.T193P|ATP2C1_ENST00000504381.1_Missense_Mutation_p.T138P			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	193					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGTGAGACAACGCCTTGTTC	0.443									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													141	134	136					3																	130672710		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.577A>C	3.37:g.130672710A>C	ENSP00000427461:p.Thr193Pro		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.T227P	ENST00000510168.1	37	c.679	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.81|14.81	2.645270|2.645270	0.47258|0.47258	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90676	.|-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.42|5.42	4.21|4.21	0.49690|0.49690	.|ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.214217	.|0.48286	.|D	.|0.000188	D|D	0.88160|0.88160	0.6362|0.6362	M|M	0.65677|0.65677	2.01|2.01	0.40603|0.40603	D|D	0.981604|0.981604	.|B;P;B;B;B;B;B	.|0.35527	.|0.451;0.507;0.162;0.244;0.33;0.137;0.166	.|B;B;B;B;B;B;B	.|0.37480	.|0.113;0.18;0.251;0.113;0.251;0.113;0.18	D|D	0.84604|0.84604	0.0674|0.0674	5|10	.|0.38643	.|T	.|0.18	.|.	7.8812|7.8812	0.29623|0.29623	0.7593:0.0:0.2407:0.0|0.7593:0.0:0.2407:0.0	.|.	.|227;188;227;193;227;193;193	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	H|P	146|177;138;177;227;188;193;193;177;177;193;193;193;193;192	.|ENSP00000423774:T177P;ENSP00000425320:T138P;ENSP00000421326:T177P;ENSP00000376914:T227P;ENSP00000432956:T188P;ENSP00000427461:T193P;ENSP00000424783:T193P;ENSP00000423330:T177P;ENSP00000422872:T177P;ENSP00000329664:T193P;ENSP00000395809:T193P;ENSP00000352665:T193P;ENSP00000402677:T193P	.|ENSP00000329664:T193P	Q|T	+|+	3|1	2|0	ATP2C1|ATP2C1	132155400|132155400	0.942000|0.942000	0.31987|0.31987	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	2.118000|2.118000	0.41949|0.41949	0.849000|0.849000	0.35215|0.35215	0.528000|0.528000	0.53228|0.53228	CAA|ACG	ATP2C1	-	pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000017260		0.443	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0	61	0	A	NM_001001486		130672710	1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	10.13	71	8	SNP	0.974	C	C	130672710	A	C	130672710	3	2	51	1	0	0	0	0	1	0	0	0	1144	43	2	4	607	4	ATP2C1	3	130672710	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	11539566	130672710	67349720	59	12140											
TMEM108	66000	genome.wustl.edu	37	chr3	133099114	133099114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgccctgtcccgcctgcaCctggtggccactccaggagt	5	7	11	18	2	0	0	0	0	0	0	2	1	2	1	6	3	1	1	6	3	0	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:133099114C>A	ENST00000321871.6	+	4	769	c.559C>A	c.(559-561)Cct>Act	p.P187T	TMEM108_ENST00000515826.1_Missense_Mutation_p.P187T|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.P187T	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	187	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCGCCTGCACCTGGTGGCCA	0.627																																																	0													27	29	28					3																	133099114		2203	4300	6503	SO:0001583	missense	0			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.559C>A	3.37:g.133099114C>A	ENSP00000324651:p.Pro187Thr		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	NULL	p.P187T	ENST00000321871.6	37	c.559	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	C	2.179	-0.388011	0.04932	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.42513	0.97;0.97;0.97	4.32	-0.0188	0.13962	.	0.459127	0.18142	N	0.150384	T	0.23965	0.0580	L	0.35414	1.06	0.09310	N	1	B;B	0.32829	0.386;0.026	B;B	0.36666	0.23;0.01	T	0.08576	-1.0715	10	0.17369	T	0.5	-1.7049	1.1928	0.01868	0.1725:0.4455:0.1687:0.2133	.	187;187	E9PB58;Q6UXF1	.;TM108_HUMAN	T	187	ENSP00000324651:P187T;ENSP00000376838:P187T;ENSP00000423338:P187T	ENSP00000324651:P187T	P	+	1	0	TMEM108	134581804	0.000000	0.05858	0.001000	0.08648	0.236000	0.25371	-0.454000	0.06770	0.359000	0.24239	0.561000	0.74099	CCT	TMEM108	-	NULL	ENSG00000144868		0.627	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	HGNC	protein_coding	OTTHUMT00000356907.2	-	0	8	0	C	NM_023943		133099114	1	tier1	-	no_errors	ENST00000321871	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.000	A	A	133099114	C	A	133099114	3	1	51	1	0	0	0	0	1	0	0	0	16071	507	18	3	565	3	TMEM108	3	133099114	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	2426404	133099114	64923316	60	12141											
DHX36	170506	genome.wustl.edu	37	chr3	154018442	154018442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattcagatcaactttatCatcctccatcatttctataa	14	15	1	11	0	5	1	4	0	1	1	7	1	7	1	2	0	1	0	2	0	5	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:154018442C>T	ENST00000496811.1	-	11	1482	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	DHX36_ENST00000329463.5_Missense_Mutation_p.D468N|DHX36_ENST00000544526.1_Missense_Mutation_p.D468N|DHX36_ENST00000308361.6_Missense_Mutation_p.D468N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	468					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCAACTTTATCATCCTCCATC	0.299																																																	0													129	123	125					3																	154018442		2203	4298	6501	SO:0001583	missense	0			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"DEAH-boxes"	14410	protein-coding gene	gene with protein product		612767	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1402G>A	3.37:g.154018442C>T	ENSP00000417078:p.Asp468Asn		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D468N	ENST00000496811.1	37	c.1402	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394609	0.83011	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.02682	4.2;4.2;4.2;4.2;4.2	5.75	5.75	0.90469	.	0.214045	0.56097	D	0.000032	T	0.05868	0.0153	L	0.48986	1.54	0.52501	D	0.999959	B;B;B	0.15930	0.011;0.011;0.015	B;B;B	0.20767	0.031;0.031;0.014	T	0.35968	-0.9767	10	0.54805	T	0.06	.	20.312	0.98644	0.0:1.0:0.0:0.0	.	468;468;468	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	N	468;468;468;468;382	ENSP00000417078:D468N;ENSP00000309296:D468N;ENSP00000444247:D468N;ENSP00000330113:D468N;ENSP00000419862:D382N	ENSP00000309296:D468N	D	-	1	0	DHX36	155501136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.277000	0.78572	2.866000	0.98385	0.650000	0.86243	GAT	DHX36	-	superfamily_P-loop_NTPase	ENSG00000174953		0.299	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	-	0	20	0	C	NM_020865		154018442	-1	tier1	-	no_errors	ENST00000496811	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	154018442	C	T	154018442	3	4	51	1	0	0	0	0	1	0	0	0	4523	826	29	3	1684	3	DHX36	3	154018442	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	20919328	154018442	44003988	61	12142											
SLITRK3	22865	genome.wustl.edu	37	chr3	164907802	164907802	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtcttcctgatttctcGtaggtcctttccatggaagt	5	18	8	10	1	3	1	0	1	3	0	7	2	6	2	3	2	0	1	3	2	2	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:164907802G>A	ENST00000475390.1	-	2	1260	c.817C>T	c.(817-819)Cga>Tga	p.R273*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R273*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	273	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R273*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGATTTCTCGTAGGTCCTTT	0.468										HNSCC(40;0.11)																																							1	Substitution - Nonsense(1)	large_intestine(1)											121	125	124					3																	164907802		2203	4300	6503	SO:0001587	stop_gained	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.817C>T	3.37:g.164907802G>A	ENSP00000420091:p.Arg273*		Q1RMY6	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R273*	ENST00000475390.1	37	c.817	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.837759	0.97877	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.85	3.98	0.46160	.	0.000000	0.30969	N	0.008502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.7448	14.3566	0.66742	0.0:0.0:0.5045:0.4955	.	.	.	.	X	273	.	ENSP00000241274:R273X	R	-	1	2	SLITRK3	166390496	0.994000	0.37717	0.987000	0.45799	0.941000	0.58515	1.654000	0.37334	1.453000	0.47775	0.655000	0.94253	CGA	SLITRK3	-	smart_Cys-rich_flank_reg_C	ENSG00000121871		0.468	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	41	0	G	NM_014926		164907802	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	nonsense	56.45	27	35	SNP	0.998	A	A	164907802	G	A	164907802	4	1	51	1	0	0	0	0	0	1	0	0	14789	1153	40	1	2120	1	SLITRK3	3	164907802	Nonsense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	10889360	164907802	33114628	62	12143											
CHRD	8646	genome.wustl.edu	37	chr3	184105786	184105786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtgcccagcctgtgcGtgtcaaccccaccgactgct	5	8	11	17	2	1	0	1	0	0	0	1	1	1	0	6	1	5	1	6	1	1	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:184105786G>A	ENST00000204604.1	+	20	2765	c.2519G>A	c.(2518-2520)cGt>cAt	p.R840H	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.R382H|CHRD_ENST00000348986.3_Missense_Mutation_p.R800H|CHRD_ENST00000450923.1_Missense_Mutation_p.R840H	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	840	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGCCTGTGCGTGTCAACCCC	0.617																																																	0													46	39	42					3																	184105786		2203	4300	6503	SO:0001583	missense	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2519G>A	3.37:g.184105786G>A	ENSP00000204604:p.Arg840His		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.R840H	ENST00000204604.1	37	c.2519	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880059	0.91740	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	4.73	4.73	0.59995	von Willebrand factor, type C (3);	0.000000	0.85682	D	0.000000	T	0.74604	0.3738	L	0.49455	1.56	0.33929	D	0.64186	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.82534	-0.0409	10	0.66056	D	0.02	-12.1947	16.2662	0.82581	0.0:0.0:1.0:0.0	.	382;800;840;840	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	H	840;840;800;382	ENSP00000204604:R840H;ENSP00000408972:R840H;ENSP00000334036:R800H;ENSP00000442948:R382H	ENSP00000204604:R840H	R	+	2	0	CHRD	185588480	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.086000	0.76885	2.178000	0.69098	0.557000	0.71058	CGT	CHRD	-	pfam_VWF_C,smart_VWF_C,pirsf_Chordin	ENSG00000090539		0.617	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0	32	0	G	NM_003741		184105786	1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	missense	61.11	27	44	SNP	1.000	A	A	184105786	G	A	184105786	3	1	51	1	0	0	0	0	1	0	0	0	3379	1145	40	1	2597	1	CHRD	3	184105786	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	19197984	184105786	13916644	63	12144											
UTS2D	257313	genome.wustl.edu	37	chr3	190995876	190995876	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccagtgttgaaaggtcTttggaaatcaaaatttttat	13	15	7	6	0	3	1	2	1	1	0	3	2	3	2	1	2	0	1	1	2	5	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr3:190995876T>G	ENST00000340524.5	-	6	973	c.187A>C	c.(187-189)Aga>Cga	p.R63R	UTS2B_ENST00000427544.2_Silent_p.R63R	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	63					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											TTGAAAGGTCTTTGGAAATCA	0.264																																																	0													60	61	61					3																	190995876		2203	4293	6496	SO:0001819	synonymous_variant	0			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"Endogenous ligands"	30894	protein-coding gene	gene with protein product	"prepro-URP"		"urotensin 2 domain containing"	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.187A>C	3.37:g.190995876T>G			B3KQY8|D3DNW1|Q2M1Z2	Silent	SNP	NULL	p.R63	ENST00000340524.5	37	c.187	CCDS3300.1	3																																																																																			UTS2B	-	NULL	ENSG00000188958		0.264	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2B	HGNC	protein_coding	OTTHUMT00000343353.1	-	0	82	0	T	NM_198152		190995876	-1	tier1	-	no_errors	ENST00000446788	ensembl	human	known	74_37	silent	20.93	68	18	SNP	0.015	G	G	190995876	T	G	190995876	2	3	51	1	0	0	0	0	0	0	0	1	17154	1617	56	4		4	UTS2D	3	190995876	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	6890090	190995876	7026554	64	12145											
HTT	3064	genome.wustl.edu	37	chr4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgagtccctcaagtccttcCagcagcagcagcagcagcag																								rs71180116|rs374076986	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704																																																	0																																										SO:0001651	inframe_deletion	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_54delCAG	4.37:g.3076613_3076615delCAG	ENSP00000347184:p.Gln38del		Q9UQB7	In_Frame_Del	DEL	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.Q21in_frame_del	ENST00000355072.5	37	c.52_54	CCDS43206.1	4																																																																																			HTT	-	NULL	ENSG00000197386		0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0	10	0	CAG	NM_002111		3076606	1			no_errors	ENST00000355072	ensembl	human	known	74_37	in_frame_del	25.00	15	5	DEL	0.993:0.989:0.986	0	-	3076606	CAG	-	3076604	7	5	51	1	0	1	0	1	0	0	0	0	7484	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAG	TCGA-L5-A43I-01A-11D-A247-09		3076604	188077672	65	12146											
EVC2	132884	genome.wustl.edu	37	chr4	5696102	5696102	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctcttttaaataagttcTtcttaggccaggagggtata	11	15	8	7	0	3	0	0	0	3	0	4	1	3	1	1	3	0	2	1	3	6	8			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:5696102T>G	ENST00000344408.5	-	3	463	c.410A>C	c.(409-411)aAg>aCg	p.K137T	EVC2_ENST00000344938.1_Missense_Mutation_p.K137T|EVC2_ENST00000310917.2_Missense_Mutation_p.K57T	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	137					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AAATAAGTTCTTCTTAGGCCA	0.398																																																	0													120	127	124					4																	5696102		2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.410A>C	4.37:g.5696102T>G	ENSP00000342144:p.Lys137Thr		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.K137T	ENST00000344408.5	37	c.410	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620427	0.28801	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.77620	-1.11;-1.09;-1.1	4.36	0.496	0.16896	.	0.623726	0.14442	N	0.319371	T	0.69735	0.3144	L	0.42245	1.32	0.28475	N	0.915219	P	0.52316	0.952	P	0.46585	0.521	T	0.61845	-0.6979	10	0.41790	T	0.15	-20.5783	6.3713	0.21483	0.0:0.3194:0.0:0.6806	.	137	Q86UK5	LBN_HUMAN	T	137;57;137	ENSP00000339954:K137T;ENSP00000311683:K57T;ENSP00000342144:K137T	ENSP00000311683:K57T	K	-	2	0	EVC2	5747003	1.000000	0.71417	0.534000	0.28014	0.147000	0.21601	1.214000	0.32419	-0.157000	0.11059	-0.385000	0.06624	AAG	EVC2	-	NULL	ENSG00000173040		0.398	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0	71	0	T	NM_147127		5696102	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	34.41	61	32	SNP	0.981	G	G	5696102	T	G	5696102	3	3	51	1	0	0	0	0	1	0	0	0	5302	1609	56	4	3596	4	EVC2	4	5696102	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	2619498	5696102	185458174	66	12147											
FRYL	285527	genome.wustl.edu	37	chr4	48501614	48501614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctgtctggcccagcGtctgatgatggaaatatata	10	12	10	9	1	2	2	0	2	2	0	3	3	3	3	2	2	2	1	2	2	4	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:48501614G>A	ENST00000503238.1	-	61	8866	c.8867C>T	c.(8866-8868)aCg>aTg	p.T2956M	FRYL_ENST00000537810.1_Missense_Mutation_p.T2956M|FRYL_ENST00000264319.7_Missense_Mutation_p.T346M|FRYL_ENST00000507873.2_Missense_Mutation_p.T346M|FRYL_ENST00000358350.4_Missense_Mutation_p.T2956M			O94915	FRYL_HUMAN	FRY-like	2956					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGGCCCAGCGTCTGATGATG	0.423																																																	0													124	117	119					4																	48501614		1883	4113	5996	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8867C>T	4.37:g.48501614G>A	ENSP00000426064:p.Thr2956Met		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T2956M	ENST00000503238.1	37	c.8867	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326981	0.60743	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.27720	1.65;1.65;1.65	5.63	5.63	0.86233	.	0.073334	0.52532	U	0.000070	T	0.53706	0.1813	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.71184	0.931;0.968;0.972	T	0.48340	-0.9044	10	0.48119	T	0.1	.	19.6605	0.95868	0.0:0.0:1.0:0.0	.	2956;2956;346	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	M	2956;2956;2956;346;346	ENSP00000426064:T2956M;ENSP00000351113:T2956M;ENSP00000441114:T2956M	ENSP00000264319:T346M	T	-	2	0	FRYL	48196371	1.000000	0.71417	0.991000	0.47740	0.804000	0.45430	9.864000	0.99589	2.645000	0.89757	0.484000	0.47621	ACG	FRYL	-	NULL	ENSG00000075539		0.423	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	49	0	G			48501614	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	25.42	44	15	SNP	1.000	A	A	48501614	G	A	48501614	3	1	51	1	0	0	0	0	1	0	0	0	6088	1145	40	1	178	1	FRYL	4	48501614	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	42805512	48501614	142652662	67	12148											
TECRL	253017	genome.wustl.edu	37	chr4	65275035	65275035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagtaatgctctcttgCgttccgaagcgagggacttg	9	10	14	8	3	1	0	0	0	1	0	3	4	2	2	1	2	3	3	1	2	3	4	rs376067868		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:65275035C>T	ENST00000381210.3	-	1	145	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TECRL_ENST00000507440.1_Missense_Mutation_p.R12H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	12					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGCTCTCTTGCGTTCCGAAGC	0.423																																																	0								C	HIS/ARG	0,4406		0,0,2203	127	127	127		35	2.5	1	4		127	1,8599	1.2+/-3.3	0,1,4299	no	missense	TECRL	NM_001010874.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/364	65275035	1,13005	2203	4300	6503	SO:0001583	missense	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.35G>A	4.37:g.65275035C>T	ENSP00000370607:p.Arg12His			Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.R12H	ENST00000381210.3	37	c.35	CCDS33990.1	4	.	.	.	.	.	.	.	.	.	.	C	7.416	0.635761	0.14386	0.0	1.16E-4	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.46063	0.88;0.88;0.88	5.16	2.47	0.30058	.	0.878015	0.09776	N	0.757279	T	0.34978	0.0916	L	0.57536	1.79	0.21220	N	0.999753	P;P	0.45715	0.856;0.865	B;B	0.40602	0.334;0.176	T	0.18745	-1.0327	10	0.29301	T	0.29	-4.2972	3.8935	0.09128	0.1676:0.5656:0.0:0.2668	.	12;12	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	H	12	ENSP00000426043:R12H;ENSP00000370607:R12H;ENSP00000422497:R12H	ENSP00000370607:R12H	R	-	2	0	TECRL	64957630	0.918000	0.31147	0.956000	0.39512	0.073000	0.16967	0.359000	0.20233	0.683000	0.31428	-0.157000	0.13467	CGC	TECRL	-	NULL	ENSG00000205678		0.423	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	42	0	C	NM_001010874		65275035	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	missense	29.23	46	19	SNP	0.919	T	T	65275035	C	T	65275035	3	4	51	1	0	0	0	0	1	0	0	0	15793	768	27	1	1104	1	TECRL	4	65275035	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	16773421	65275035	125879241	68	12149											
UGT2B11	10720	genome.wustl.edu	37	chr4	70080140	70080140	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccaaaagctatcttttcGaatgtctgaccatctcttaa	13	14	4	10	1	3	1	0	1	3	0	5	2	3	1	2	0	2	1	2	0	6	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:70080140G>T	ENST00000446444.1	-	1	309	c.301C>A	c.(301-303)Cga>Aga	p.R101R	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	101					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.R101*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CTATCTTTTCGAATGTCTGAC	0.299																																																	1	Substitution - Nonsense(1)	large_intestine(1)											63	79	73					4																	70080140		2189	4291	6480	SO:0001819	synonymous_variant	0			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.301C>A	4.37:g.70080140G>T			Q3KNV9	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R101	ENST00000446444.1	37	c.301	CCDS3527.1	4																																																																																			UGT2B11	-	pfam_UDP_glucos_trans	ENSG00000213759		0.299	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2		0	70	0	G	NM_001073		70080140	-1			no_errors	ENST00000446444	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	T	T	70080140	G	T	70080140	2	4	51	1	0	0	0	0	0	0	0	1	17006	1066	37	2		2	UGT2B11	4	70080140	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	4805105	70080140	121074136	69	12150											
EPGN	255324	genome.wustl.edu	37	chr4	75178002	75178002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgtgcattccaccatgaGctagagaaagccatctgcag	11	9	10	11	0	1	2	0	1	1	1	2	3	2	2	3	0	4	4	3	0	2	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:75178002G>T	ENST00000413830.1	+	3	295	c.234G>T	c.(232-234)gaG>gaT	p.E78D	EPGN_ENST00000509145.1_Missense_Mutation_p.E48D|EPGN_ENST00000502358.1_Missense_Mutation_p.E78D|EPGN_ENST00000514968.1_Missense_Mutation_p.E69D|EPGN_ENST00000505212.1_Missense_Mutation_p.E69D|EPGN_ENST00000503098.1_Missense_Mutation_p.E78D|EPGN_ENST00000332112.4_Missense_Mutation_p.E69D	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	78	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			TCCACCATGAGCTAGAGAAAG	0.423																																																	0													167	152	158					4																	75178002		2203	4300	6503	SO:0001583	missense	0				CCDS59475.1, CCDS59476.1, CCDS59477.1, CCDS59478.1, CCDS59479.1	4q13.3	2012-12-07	2012-12-07						17470	protein-coding gene	gene with protein product			"epithelial mitogen homolog (mouse)"				Standard	NM_001270989		Approved	epigen, EPG, PRO9904, ALGV3072	uc003hic.2	Q6UW88		ENST00000413830.1:c.234G>T	4.37:g.75178002G>T	ENSP00000411898:p.Glu78Asp		A1BMM3|A1BMM4|A1BMM5|A1BMM6|A1BMM7|A1BMM8|A8K090	Missense_Mutation	SNP	pfscan_EG-like_dom	p.E78D	ENST00000413830.1	37	c.234	CCDS59478.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.808611|2.808611	0.50421|0.50421	.|.	.|.	ENSG00000182585|ENSG00000182585	ENST00000446430|ENST00000413830;ENST00000332112;ENST00000514968;ENST00000503098;ENST00000502358;ENST00000509145;ENST00000505212	.|T;T;T;T;T;T;T	.|0.40756	.|2.57;2.57;2.57;2.57;1.02;1.02;1.02	5.63|5.63	2.64|2.64	0.31445|0.31445	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.119767	.|0.53938	.|D	.|0.000043	T|T	0.34106|0.34106	0.0886|0.0886	N|N	0.11255|0.11255	0.115|0.115	0.36394|0.36394	D|D	0.862675|0.862675	.|B;B;P;D;B;D;B	.|0.71674	.|0.106;0.322;0.77;0.998;0.106;0.998;0.287	.|B;B;B;D;B;D;B	.|0.77557	.|0.045;0.255;0.417;0.99;0.097;0.99;0.071	T|T	0.40156|0.40156	-0.9578|-0.9578	5|10	.|0.02654	.|T	.|1	-11.5381|-11.5381	8.0854|8.0854	0.30769|0.30769	0.1423:0.129:0.7287:0.0|0.1423:0.129:0.7287:0.0	.|.	.|48;78;78;69;78;69;69	.|Q6UW88-7;Q6UW88;Q6UW88-3;Q6UW88-5;Q6UW88-4;Q6UW88-6;Q6UW88-2	.|.;EPGN_HUMAN;.;.;.;.;.	S|D	54|78;69;69;78;78;48;69	.|ENSP00000411898:E78D;ENSP00000330375:E69D;ENSP00000426550:E69D;ENSP00000425890:E78D;ENSP00000426678:E78D;ENSP00000426630:E48D;ENSP00000424392:E69D	.|ENSP00000330375:E69D	A|E	+|+	1|3	0|2	EPGN|EPGN	75396866|75396866	0.995000|0.995000	0.38212|0.38212	0.966000|0.966000	0.40874|0.40874	0.699000|0.699000	0.40488|0.40488	0.460000|0.460000	0.21924|0.21924	0.355000|0.355000	0.24131|0.24131	-1.851000|-1.851000	0.00568|0.00568	GCT|GAG	EPGN	-	pfscan_EG-like_dom	ENSG00000182585		0.423	EPGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPGN	HGNC	protein_coding	OTTHUMT00000362738.1	-	0	72	0	G	NM_001013442		75178002	1	tier1	-	no_errors	ENST00000413830	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.983	T	T	75178002	G	T	75178002	3	4	51	1	0	0	0	0	1	0	0	0	5180	962	34	3	217	3	EPGN	4	75178002	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	5097862	75178002	115976274	70	12151											
RRH	10692	genome.wustl.edu	37	chr4	110758747	110758747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactggtcagatcagAtagatgtaacaaaggtaaga	18	7	11	5	0	2	5	2	0	0	5	2	6	2	5	0	2	1	2	0	2	4	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:110758747A>G	ENST00000317735.4	+	5	740	c.706A>G	c.(706-708)Ata>Gta	p.I236V		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	236					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		GTCAGATCAGATAGATGTAAC	0.428																																																	0													74	64	67					4																	110758747		2203	4300	6503	SO:0001583	missense	0			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"GPCR / Class A : Opsin receptors"	10450	protein-coding gene	gene with protein product	"peropsin"	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.706A>G	4.37:g.110758747A>G	ENSP00000314992:p.Ile236Val		A1A4V2|Q7RTS4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	p.I236V	ENST00000317735.4	37	c.706	CCDS3687.1	4	.	.	.	.	.	.	.	.	.	.	A	2.560	-0.302119	0.05495	.	.	ENSG00000180245	ENST00000317735	T	0.71698	-0.59	5.92	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.475392	0.23589	N	0.046578	T	0.45397	0.1340	N	0.11023	0.085	0.21325	N	0.999728	B	0.02656	0.0	B	0.04013	0.001	T	0.23511	-1.0186	10	0.14656	T	0.56	.	6.4855	0.22087	0.1503:0.0:0.6881:0.1616	.	236	O14718	OPSX_HUMAN	V	236	ENSP00000314992:I236V	ENSP00000314992:I236V	I	+	1	0	RRH	110978196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.555000	0.45854	0.776000	0.33473	-0.472000	0.04984	ATA	RRH	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin	ENSG00000180245		0.428	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1	-	0	38	0	A	NM_006583		110758747	1	tier1	-	no_errors	ENST00000317735	ensembl	human	known	74_37	missense	60.00	18	27	SNP	1.000	G	G	110758747	A	G	110758747	3	3	51	1	0	0	0	0	1	0	0	0	13725	333	12	4	724	4	RRH	4	110758747	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	35580745	110758747	80395529	71	12152											
ANK2	287	genome.wustl.edu	37	chr4	114275426	114275426	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacctgtatcaccctcGacaaaaactgaaaggcactc	14	7	5	15	1	2	1	2	1	0	0	4	2	2	1	2	1	1	2	2	1	4	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:114275426G>T	ENST00000357077.4	+	38	5705	c.5652G>T	c.(5650-5652)tcG>tcT	p.S1884S	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.S1851S|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1884	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATCACCCTCGACAAAAACTG	0.468																																																	0													173	157	162					4																	114275426		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5652G>T	4.37:g.114275426G>T			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S1884	ENST00000357077.4	37	c.5652	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	64	0	G	NM_001148		114275426	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	44.00	42	33	SNP	0.003	T	T	114275426	G	T	114275426	2	4	51	1	0	0	0	0	0	0	0	1	621	1045	37	2		2	ANK2	4	114275426	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3516679	114275426	76878850	72	12153											
PCDH10	57575	genome.wustl.edu	37	chr4	134072185	134072185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacatttcgccccgggCgcgggagcttttcggactct	5	9	12	15	5	1	0	0	0	1	0	3	2	1	2	3	3	2	1	3	3	0	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:134072185C>T	ENST00000264360.5	+	1	1716	c.890C>T	c.(889-891)gCg>gTg	p.A297V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCGCCCCGGGCGCGGGAGCTT	0.632																																																	0													41	45	43					4																	134072185		2203	4300	6503	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.890C>T	4.37:g.134072185C>T	ENSP00000264360:p.Ala297Val		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A297V	ENST00000264360.5	37	c.890	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.492356	0.01009	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.37058	1.22	4.33	3.47	0.39725	Cadherin (4);Cadherin-like (1);	0.000000	0.44902	D	0.000402	T	0.11537	0.0281	N	0.02658	-0.545	0.36301	D	0.857014	B;B	0.11235	0.004;0.002	B;B	0.06405	0.002;0.002	T	0.24404	-1.0161	10	0.02654	T	1	.	7.7575	0.28933	0.0:0.7463:0.166:0.0877	.	297;297	Q9P2E7;Q96SF0	PCD10_HUMAN;.	V	297	ENSP00000264360:A297V	ENSP00000264360:A297V	A	+	2	0	PCDH10	134291635	0.980000	0.34600	0.451000	0.26982	0.421000	0.31385	2.230000	0.42999	0.991000	0.38814	-0.416000	0.06073	GCG	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.632	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	16	0	C	NM_032961		134072185	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.996	T	T	134072185	C	T	134072185	3	4	51	1	0	0	0	0	1	0	0	0	11546	768	27	1	892	1	PCDH10	4	134072185	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	19796759	134072185	57082091	73	12154											
PCDH10	57575	genome.wustl.edu	37	chr4	134073196	134073196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctttcgcatggactggcGcaccggggagctgcgcacag	6	7	14	14	4	1	0	0	0	1	0	2	2	1	2	2	4	2	4	2	4	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:134073196G>A	ENST00000264360.5	+	1	2727	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	634	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R634H(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATGGACTGGCGCACCGGGGAG	0.692																																																	1	Substitution - Missense(1)	endometrium(1)											32	36	35					4																	134073196		2183	4282	6465	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1901G>A	4.37:g.134073196G>A	ENSP00000264360:p.Arg634His		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R634H	ENST00000264360.5	37	c.1901	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180302	0.38511	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52526	0.66	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.44483	D	0.000458	T	0.44286	0.1286	N	0.05414	-0.055	0.58432	D	0.99999	D;B	0.89917	1.0;0.022	D;B	0.87578	0.998;0.013	T	0.27400	-1.0075	10	0.05721	T	0.95	.	16.5313	0.84361	0.0:0.0:1.0:0.0	.	634;634	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	634	ENSP00000264360:R634H	ENSP00000264360:R634H	R	+	2	0	PCDH10	134292646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.685000	0.46959	2.207000	0.71202	0.655000	0.94253	CGC	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.692	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	8	0	G	NM_032961		134073196	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	A	A	134073196	G	A	134073196	3	1	51	1	0	0	0	0	1	0	0	0	11546	1087	38	1	1903	1	PCDH10	4	134073196	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1011	134073196	57081080	74	12155											
DCLK2	166614	genome.wustl.edu	37	chr4	151160949	151160949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggagactttgggcttgCgactgtggtagaaggccctt	7	11	15	8	1	0	2	0	0	0	2	0	4	0	2	1	4	1	2	1	4	2	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:151160949C>T	ENST00000296550.7	+	11	2376	c.1622C>T	c.(1621-1623)gCg>gTg	p.A541V	DCLK2_ENST00000506325.1_Missense_Mutation_p.A540V|DCLK2_ENST00000302176.8_Missense_Mutation_p.A558V	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTTGGGCTTGCGACTGTGGTA	0.458																																					GBM(195;186 2215 13375 16801 37459)												0													138	138	138					4																	151160949		2203	4300	6503	SO:0001583	missense	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1622C>T	4.37:g.151160949C>T	ENSP00000296550:p.Ala541Val		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.A558V	ENST00000296550.7	37	c.1673	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.369141	0.95900	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.75821	-0.97;-0.97;-0.97	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.994;0.999	D	0.90246	0.4290	10	0.87932	D	0	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	558;540;541	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	V	541;540;558	ENSP00000296550:A541V;ENSP00000427235:A540V;ENSP00000303887:A558V	ENSP00000296550:A541V	A	+	2	0	DCLK2	151380399	1.000000	0.71417	0.975000	0.42487	0.872000	0.50106	7.456000	0.80751	2.767000	0.95098	0.655000	0.94253	GCG	DCLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000170390		0.458	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	-	0	116	0	C	NM_001040260		151160949	1	tier1	-	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	25.21	89	30	SNP	1.000	T	T	151160949	C	T	151160949	3	4	51	1	0	0	0	0	1	0	0	0	4301	768	27	1	1664	1	DCLK2	4	151160949	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	17087753	151160949	39993327	75	12156											
DCHS2	54798	genome.wustl.edu	37	chr4	155407671	155407671	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaacttgagcagatataAgctgtaaaagaggaaaactt	18	8	10	5	0	0	3	0	1	0	2	0	4	0	4	0	2	4	4	0	2	7	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:155407671A>C	ENST00000456341.2	-	2	2032	c.2033T>G	c.(2032-2034)cTt>cGt	p.L678R	DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000443500.1_Splice_Site_p.L685R			Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCAGATATAAGCTGTAAAAG	0.353																																																	0													166	132	142					4																	155407671		692	1591	2283	SO:0001630	splice_region_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000456341.2:c.2032-1T>G	4.37:g.155407671A>C			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L685R	ENST00000456341.2	37	c.2054		4	.	.	.	.	.	.	.	.	.	.	A	9.342	1.063226	0.19987	.	.	ENSG00000197410	ENST00000456341;ENST00000443500	T;T	0.60424	0.19;0.21	3.2	2.01	0.26516	.	.	.	.	.	T	0.64692	0.2621	M	0.85197	2.74	0.09310	N	1	P	0.40398	0.716	P	0.45946	0.498	T	0.58493	-0.7627	9	0.87932	D	0	.	6.4849	0.22083	0.7207:0.2793:0.0:0.0	.	685	E9PG03	.	R	678;685	ENSP00000408543:L678R;ENSP00000395539:L685R	ENSP00000395539:L685R	L	-	2	0	DCHS2	155627121	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.642000	0.37207	0.600000	0.29862	0.459000	0.35465	CTT	DCHS2	-	superfamily_Cadherin-like	ENSG00000197410		0.353	DCHS2-005	PUTATIVE	basic	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365285.1	-	0	58	0	A	NM_001142552	Missense_Mutation	155407671	-1	tier1	-	no_errors	ENST00000443500	ensembl	human	known	74_37	missense	28.85	37	15	SNP	0.001	C	C	155407671	A	C	155407671	5	2	51	1	0	0	0	0	0	0	1	0	4297	86	3	4	9026	4	DCHS2	4	155407671	Splice_Site	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	4246722	155407671	35746605	76	12157											
RXFP1	59350	genome.wustl.edu	37	chr4	159568033	159568033	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caataagcatgcgcagctgtGgatggagagtactcattgtc	11	10	12	8	1	1	1	1	0	0	1	2	3	1	2	0	2	4	4	0	2	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr4:159568033G>A	ENST00000307765.5	+	16	1687	c.1436G>A	c.(1435-1437)tGg>tAg	p.W479*	RXFP1_ENST00000448688.2_Nonsense_Mutation_p.W374*|RXFP1_ENST00000343542.5_Nonsense_Mutation_p.W431*|RXFP1_ENST00000470033.1_Nonsense_Mutation_p.W446*|RXFP1_ENST00000460056.2_Nonsense_Mutation_p.W398*	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	479					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GCGCAGCTGTGGATGGAGAGT	0.413																																																	0													133	124	127					4																	159568033		1914	4142	6056	SO:0001587	stop_gained	0			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1436G>A	4.37:g.159568033G>A	ENSP00000303248:p.Trp479*		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.W479*	ENST00000307765.5	37	c.1436	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	46	12.447090	0.99668	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9294	0.97114	0.0:0.0:1.0:0.0	.	.	.	.	X	398;479;374;431;446;349	.	ENSP00000303248:W479X	W	+	2	0	RXFP1	159787483	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.777000	0.99008	2.701000	0.92244	0.650000	0.86243	TGG	RXFP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam	ENSG00000171509		0.413	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	-	0	56	0	G	NM_021634		159568033	1	tier1	-	no_errors	ENST00000307765	ensembl	human	known	74_37	nonsense	22.64	41	12	SNP	1.000	A	A	159568033	G	A	159568033	4	1	51	1	0	0	0	0	0	1	0	0	13804	1357	47	3	1498	3	RXFP1	4	159568033	Nonsense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	4160362	159568033	31586243	77	12158											
C7	730	genome.wustl.edu	37	chr5	40945409	40945409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggaagcgctccttttttaGatcttcatcatcttcttcac	7	17	5	12	2	6	1	3	0	3	1	8	2	7	2	1	1	1	1	1	1	2	6	rs201503515		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:40945409G>A	ENST00000313164.9	+	7	1036	c.677G>A	c.(676-678)aGa>aAa	p.R226K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	226	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TCCTTTTTTAGATCTTCATCA	0.313																																																	0													146	137	140					5																	40945409		1861	4102	5963	SO:0001583	missense	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.677G>A	5.37:g.40945409G>A	ENSP00000322061:p.Arg226Lys		Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.R226K	ENST00000313164.9	37	c.677	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	G	1.607	-0.524943	0.04141	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	T	0.61510	0.1	4.51	-3.58	0.04597	Membrane attack complex component/perforin (MACPF) domain (1);	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.19946	0.027	T	0.27938	-1.0059	9	0.02654	T	1	4.3435	1.6478	0.02765	0.166:0.3626:0.2071:0.2644	.	226	P10643	CO7_HUMAN	K	226	ENSP00000322061:R226K	ENSP00000322061:R226K	R	+	2	0	C7	40981166	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.804000	0.04535	-0.758000	0.04690	-0.225000	0.12378	AGA	C7	-	NULL	ENSG00000112936		0.313	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1		0	47	0	G			40945409	1			no_errors	ENST00000313164	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.000	A	A	40945409	G	A	40945409	3	1	51	1	0	0	0	0	1	0	0	0	2382	942	33	3	703	3	C7	5	40945409	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		40945409	139969851	78	12159											
KCNN2	3781	genome.wustl.edu	37	chr5	113740276	113740276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatggacggcccggcttGccttctcctatgccccatcc	5	10	8	18	2	2	0	1	0	1	0	4	1	3	1	6	3	2	1	6	3	1	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:113740276G>T	ENST00000512097.3	+	4	1742	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.A242S			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	242					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GGCCCGGCTTGCCTTCTCCTA	0.428																																																	0													186	184	185					5																	113740276		2202	4300	6502	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.724G>T	5.37:g.113740276G>T	ENSP00000427120:p.Ala242Ser		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.A242S	ENST00000512097.3	37	c.724	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871174	0.72065	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98531	-4.98;-4.98	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.98695	0.9562	M	0.80028	2.48	0.80722	D	1	D	0.55172	0.97	P	0.57960	0.83	D	0.99437	1.0937	10	0.56958	D	0.05	-0.4208	18.8127	0.92064	0.0:0.0:1.0:0.0	.	242	Q9H2S1	KCNN2_HUMAN	S	242	ENSP00000427120:A242S;ENSP00000264773:A242S	ENSP00000264773:A242S	A	+	1	0	KCNN2	113768175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.667000	0.98616	2.536000	0.85505	0.561000	0.74099	GCC	KCNN2	-	NULL	ENSG00000080709		0.428	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	-	0	50	0	G	NM_021614		113740276	1	tier1	-	no_errors	ENST00000264773	ensembl	human	known	74_37	missense	32.35	46	22	SNP	1.000	T	T	113740276	G	T	113740276	3	4	51	1	0	0	0	0	1	0	0	0	8106	1319	46	3	734	3	KCNN2	5	113740276	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	72794867	113740276	67174984	79	12160											
AQPEP	206338	genome.wustl.edu	37	chr5	115335467	115335468	+	Frame_Shift_Ins	INS	-	-	T																															ttcctttatagaatgagatcINStttttttctaacattttaca																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:115335467_115335468insT	ENST00000357872.4	+	7	1507_1508	c.1383_1384insT	c.(1384-1386)tttfs	p.F462fs	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		462						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGAATGAGATCTTTTTTTCTAA	0.361																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000357872.4:c.1390dupT	5.37:g.115335474_115335474dupT	ENSP00000350541:p.Phe462fs		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Frame_Shift_Ins	INS	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S463fs	ENST00000357872.4	37	c.1383_1384	CCDS4124.1	5																																																																																			AQPEP	-	pfam_Peptidase_M1_N	ENSG00000172901		0.361	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1		0	28	0	-			115335468	1	tier1		no_errors	ENST00000357872	ensembl	human	known	74_37	frame_shift_ins	40.00	18	12	INS	0.153:0.933	T	T	115335468	-	T	115335467	7	5	51	1	0	1	1	0	0	0	0	0	834	903	32	0	1409	0	AQPEP	5	115335467	Frame_Shift_Ins	INS	-	TCGA-L5-A43I-01A-11D-A247-09	1595191	115335467	65579793	80	12161											
PCDHA12	56137	genome.wustl.edu	37	chr5	140257113	140257113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgcgggcctcagtgggcGctgtggatcccgaagcggct	4	7	17	13	6	1	0	1	0	0	0	3	2	2	1	2	4	1	2	2	4	1	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:140257113G>A	ENST00000398631.2	+	1	2056	c.2056G>A	c.(2056-2058)Gct>Act	p.A686T	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	686					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTGGGCGCTGTGGATCC	0.652																																					Pancreas(113;759 1672 13322 24104 50104)												0													37	42	40					5																	140257113		2203	4300	6503	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2056G>A	5.37:g.140257113G>A	ENSP00000381628:p.Ala686Thr		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A686T	ENST00000398631.2	37	c.2056	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681578	0.29872	.	.	ENSG00000251664	ENST00000398631	T	0.51574	0.7	4.84	-1.89	0.07689	.	.	.	.	.	T	0.39733	0.1089	M	0.75447	2.3	0.09310	N	1	B;B	0.21688	0.059;0.012	B;B	0.18263	0.021;0.004	T	0.37126	-0.9719	9	0.36615	T	0.2	.	2.3841	0.04361	0.151:0.1172:0.2543:0.4774	.	686;686	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	686	ENSP00000381628:A686T	ENSP00000381628:A686T	A	+	1	0	PCDHA12	140237297	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.495000	0.06443	-0.473000	0.06871	-0.839000	0.03059	GCT	PCDHA12	-	NULL	ENSG00000251664		0.652	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	42	0	G	NM_018903		140257113	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	34.43	40	21	SNP	0.000	A	A	140257113	G	A	140257113	3	1	51	1	0	0	0	0	1	0	0	0	11561	1087	38	1	2058	1	PCDHA12	5	140257113	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	24921646	140257113	40658147	81	12162											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140348306	140348306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagatgggagatgagaGtggtagcactttcaacctga	13	8	14	6	0	1	4	1	2	0	3	1	7	1	5	1	3	2	2	1	3	3	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:140348306G>T	ENST00000289269.5	+	1	2487	c.1955G>T	c.(1954-1956)aGt>aTt	p.S652I	PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGATGAGAGTGGTAGCACT	0.498																																					Melanoma(190;638 2083 3390 11909 52360)												0													79	74	76					5																	140348306		2203	4300	6503	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1955G>T	5.37:g.140348306G>T	ENSP00000289269:p.Ser652Ile		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S652I	ENST00000289269.5	37	c.1955	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793354	0.50102	.	.	ENSG00000243232	ENST00000289269	T	0.54675	0.56	6.02	4.13	0.48395	Cadherin (4);Cadherin-like (1);	0.280612	0.25657	N	0.029175	T	0.54615	0.1869	L	0.42686	1.345	0.80722	D	1	B;D	0.54397	0.241;0.966	B;P	0.49192	0.273;0.602	T	0.62296	-0.6884	10	0.87932	D	0	.	16.3899	0.83531	0.0:0.2483:0.7517:0.0	.	652;652	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	I	652	ENSP00000289269:S652I	ENSP00000289269:S652I	S	+	2	0	PCDHAC2	140328490	0.349000	0.24870	1.000000	0.80357	0.929000	0.56500	2.590000	0.46154	1.547000	0.49401	0.655000	0.94253	AGT	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.498	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	-	0	59	0	G	NM_018899		140348306	1	tier1	-	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	19.57	74	18	SNP	0.890	T	T	140348306	G	T	140348306	3	4	51	1	0	0	0	0	1	0	0	0	11572	1029	36	3	1957	3	PCDHAC2	5	140348306	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	91193	140348306	40566954	82	12163											
PCDHGB1	56104	genome.wustl.edu	37	chr5	140730363	140730363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatacttctctctgtcaaCgaaggaaagtcctgatggaa	13	11	8	9	1	4	1	2	1	2	0	6	4	5	3	1	2	2	0	1	2	6	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:140730363C>T	ENST00000523390.1	+	1	536	c.536C>T	c.(535-537)aCg>aTg	p.T179M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T179K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCTGTCAACGAAGGAAAGT	0.438																																																	1	Substitution - Missense(1)	endometrium(1)											181	177	179					5																	140730363		1882	4112	5994	SO:0001583	missense	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.536C>T	5.37:g.140730363C>T	ENSP00000429273:p.Thr179Met		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T179M	ENST00000523390.1	37	c.536	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	10.61	1.398429	0.25205	.	.	ENSG00000254221	ENST00000523390	T	0.55760	0.5	5.36	0.994	0.19832	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33847	0.0877	N	0.25426	0.745	0.09310	N	1	B;B	0.26363	0.014;0.147	B;B	0.22753	0.016;0.041	T	0.26950	-1.0088	9	0.62326	D	0.03	.	3.5594	0.07877	0.1819:0.3255:0.0:0.4926	.	179;179	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	M	179	ENSP00000429273:T179M	ENSP00000429273:T179M	T	+	2	0	PCDHGB1	140710547	0.000000	0.05858	0.485000	0.27403	0.984000	0.73092	-0.313000	0.08103	0.339000	0.23719	0.563000	0.77884	ACG	PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.438	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	-	0	29	0	C	NM_018922		140730363	1	tier1	-	no_errors	ENST00000523390	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.013	T	T	140730363	C	T	140730363	3	4	51	1	0	0	0	0	1	0	0	0	11601	536	19	1	538	1	PCDHGB1	5	140730363	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	382057	140730363	40184897	83	12164											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744501	140744501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggaacagcccctagacCgcgagaaagagactgttcac	12	7	11	11	2	1	3	1	0	0	3	1	6	1	4	3	1	2	2	3	1	3	3	rs375711929		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:140744501C>T	ENST00000518069.1	+	1	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R202C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCTAGACCGCGAGAAAGA	0.562																																																	1	Substitution - Missense(1)	endometrium(1)						C	,,,,CYS/ARG,,,CYS/ARG	0,4038		0,0,2019	64	65	65		,,,,604,,,604	5.5	1	5		65	1,8347		0,1,4173	no	intron,intron,intron,intron,missense,intron,intron,missense	PCDHGB2,PCDHGB1,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018922.2,NM_018923.2,NM_032054.1	,,,,180,,,180	0,1,6192	TT,TC,CC		0.012,0.0,0.0081	,,,,,,,	,,,,202/932,,,202/814	140744501	1,12385	2019	4174	6193	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.604C>T	5.37:g.140744501C>T	ENSP00000429834:p.Arg202Cys		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R202C	ENST00000518069.1	37	c.604	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	18.39	3.614291	0.66672	0.0	1.2E-4	ENSG00000253485	ENST00000518069	T	0.59772	0.24	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83285	0.5221	H	0.96518	3.835	0.45607	D	0.998544	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87943	0.2718	9	0.87932	D	0	.	15.0931	0.72211	0.1424:0.8576:0.0:0.0	.	202;202	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	C	202	ENSP00000429834:R202C	ENSP00000429834:R202C	R	+	1	0	PCDHGA5	140724685	0.469000	0.25846	1.000000	0.80357	0.991000	0.79684	0.695000	0.25527	2.756000	0.94617	0.563000	0.77884	CGC	PCDHGA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.562	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0	27	0	C	NM_018918		140744501	1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	T	T	140744501	C	T	140744501	3	4	51	1	0	0	0	0	1	0	0	0	11596	652	23	1	606	1	PCDHGA5	5	140744501	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	14138	140744501	40170759	84	12165											
PCDHGA8	9708	genome.wustl.edu	37	chr5	140774174	140774174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtggacagagactcGggccagaacgcctggctgtc	7	6	17	11	3	0	2	0	0	0	2	2	4	0	3	2	5	1	1	2	5	1	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:140774174G>A	ENST00000398604.2	+	1	1794	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACTCGGGCCAGAACG	0.711																																																	0													28	34	32					5																	140774174		2198	4295	6493	SO:0001819	synonymous_variant	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1794G>A	5.37:g.140774174G>A			A7MCZ4|O15039	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S598	ENST00000398604.2	37	c.1794	CCDS47291.1	5																																																																																			PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253767		0.711	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	-	0	73	0	G	NM_032088		140774174	1	tier1	-	no_errors	ENST00000398604	ensembl	human	known	74_37	silent	18.05	108	24	SNP	0.296	A	A	140774174	G	A	140774174	2	1	51	1	0	0	0	0	0	0	0	1	11599	1103	39	1		1	PCDHGA8	5	140774174	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	29673	140774174	40141086	85	12166											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140801607	140801607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatgcaacggatccagaCgagggaatcaacggggaagt	14	6	14	7	3	1	1	1	0	0	1	2	5	2	4	1	4	3	2	1	4	5	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:140801607C>T	ENST00000398587.2	+	1	846	c.813C>T	c.(811-813)gaC>gaT	p.D271D	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Silent_p.D271D|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	271	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCCAGACGAGGGAATCA	0.443																																																	0													140	141	141					5																	140801607		1885	4108	5993	SO:0001819	synonymous_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.813C>T	5.37:g.140801607C>T			B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D271	ENST00000398587.2	37	c.813	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253873		0.443	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	-	0	29	0	C	NM_018914		140801607	1	tier1	-	no_errors	ENST00000398587	ensembl	human	known	74_37	silent	18.52	44	10	SNP	1.000	T	T	140801607	C	T	140801607	2	4	51	1	0	0	0	0	0	0	0	1	11591	535	19	1		1	PCDHGA11	5	140801607	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	27433	140801607	40113653	86	12167											
PCDHGA12	26025	genome.wustl.edu	37	chr5	140811293	140811293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agatggaagtgcaagcaatgGataatgcaggatattctgcg	14	9	13	5	1	1	1	0	0	1	1	1	4	1	4	0	3	4	3	0	3	5	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:140811293G>C	ENST00000252085.3	+	1	1109	c.967G>C	c.(967-969)Gat>Cat	p.D323H	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	323	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCAATGGATAATGCAGG	0.488																																																	0													164	153	157					5																	140811293		2203	4300	6503	SO:0001583	missense	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.967G>C	5.37:g.140811293G>C	ENSP00000252085:p.Asp323His		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D323H	ENST00000252085.3	37	c.967	CCDS4260.1	5	.	.	.	.	.	.	.	.	.	.	g	19.09	3.760019	0.69763	.	.	ENSG00000253159	ENST00000252085	T	0.80824	-1.42	4.85	4.85	0.62838	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.95020	0.8388	H	0.99855	4.85	0.39816	D	0.972774	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98194	1.0464	9	0.87932	D	0	.	17.7569	0.88451	0.0:0.0:1.0:0.0	.	323;323	O60330-2;O60330	.;PCDGC_HUMAN	H	323	ENSP00000252085:D323H	ENSP00000252085:D323H	D	+	1	0	PCDHGA12	140791477	1.000000	0.71417	0.200000	0.23457	0.990000	0.78478	5.810000	0.69179	2.519000	0.84933	0.655000	0.94253	GAT	PCDHGA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253159		0.488	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	-	0	23	0	G	NM_003735		140811293	1	tier1	-	no_errors	ENST00000252085	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.998	C	C	140811293	G	C	140811293	3	2	51	1	0	0	0	0	1	0	0	0	11592	1174	41	5	969	5	PCDHGA12	5	140811293	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	9686	140811293	40103967	87	12168											
STK32A	202374	genome.wustl.edu	37	chr5	146754657	146754657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtcttccttgcagaaagGcaggctgaattgtgatccta	10	12	10	9	0	1	3	0	2	1	1	3	3	3	3	2	2	1	3	2	2	3	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:146754657G>A	ENST00000397936.3	+	11	1241	c.908G>A	c.(907-909)gGc>gAc	p.G303D	STK32A_ENST00000398523.3_Missense_Mutation_p.G303D	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	303							ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCAGAAAGGCAGGCTGAAT	0.393																																																	0													55	51	53					5																	146754657		1568	3582	5150	SO:0001583	missense	0				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.908G>A	5.37:g.146754657G>A	ENSP00000381030:p.Gly303Asp		B3KSY0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G303D	ENST00000397936.3	37	c.908	CCDS47299.1	5	.	.	.	.	.	.	.	.	.	.	G	13.98	2.400365	0.42613	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	T;T	0.24350	1.86;1.86	5.78	5.78	0.91487	Protein kinase-like domain (1);	0.000000	0.48286	D	0.000181	T	0.31231	0.0790	L	0.28740	0.885	0.80722	D	1	B;D;B	0.64830	0.041;0.994;0.069	B;P;B	0.58130	0.05;0.833;0.051	T	0.01448	-1.1352	10	0.02654	T	1	.	18.7737	0.91901	0.0:0.0:1.0:0.0	.	303;303;303	B7Z9H7;Q8WU08;Q8WU08-3	.;ST32A_HUMAN;.	D	303	ENSP00000381030:G303D;ENSP00000381535:G303D	ENSP00000381030:G303D	G	+	2	0	STK32A	146734850	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.896000	0.92521	2.738000	0.93877	0.655000	0.94253	GGC	STK32A	-	superfamily_Kinase-like_dom	ENSG00000169302		0.393	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	HGNC	protein_coding	OTTHUMT00000373306.1	-	0	78	0	G	NM_145001		146754657	1	tier1	-	no_errors	ENST00000397936	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	A	A	146754657	G	A	146754657	3	1	51	1	0	0	0	0	1	0	0	0	15344	1203	42	3	979	3	STK32A	5	146754657	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	5943364	146754657	34160603	88	12169											
NSD1	64324	genome.wustl.edu	37	chr5	176638741	176638741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcatttcgatagcaaggTtaagcaatctgatcctggta	11	13	10	7	1	1	1	0	1	1	0	3	2	2	1	1	2	3	5	1	2	5	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr5:176638741T>A	ENST00000439151.2	+	5	3386	c.3341T>A	c.(3340-3342)gTt>gAt	p.V1114D	NSD1_ENST00000354179.4_Missense_Mutation_p.V845D|NSD1_ENST00000361032.4_Missense_Mutation_p.V1011D|NSD1_ENST00000347982.4_Missense_Mutation_p.V845D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1114					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GATAGCAAGGTTAAGCAATCT	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													97	106	103					5																	176638741		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3341T>A	5.37:g.176638741T>A	ENSP00000395929:p.Val1114Asp		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.V1114D	ENST00000439151.2	37	c.3341	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	T	5.379	0.255079	0.10185	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93659	-3.16;-3.16;-3.16;-3.26	4.2	-1.36	0.09085	.	0.845698	0.09813	N	0.752570	D	0.83238	0.5211	N	0.19112	0.55	0.09310	N	1	P;P;B	0.34757	0.467;0.467;0.337	B;B;B	0.35413	0.202;0.202;0.1	T	0.73398	-0.3995	9	.	.	.	.	0.916	0.01304	0.1542:0.2661:0.1581:0.4217	.	845;1011;1114	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	D	845;1114;845;1011	ENSP00000346111:V845D;ENSP00000395929:V1114D;ENSP00000343209:V845D;ENSP00000354310:V1011D	.	V	+	2	0	NSD1	176571347	0.405000	0.25336	0.009000	0.14445	0.001000	0.01503	0.744000	0.26245	-0.312000	0.08741	-0.371000	0.07208	GTT	NSD1	-	NULL	ENSG00000165671		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	44	0	T	NM_172349		176638741	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.000	A	A	176638741	T	A	176638741	3	1	51	1	0	0	0	0	1	0	0	0	10708	1725	60	5	3355	5	NSD1	5	176638741	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	29884084	176638741	4276519	89	12170											
NUP153	9972	genome.wustl.edu	37	chr6	17649509	17649509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggtagagagattttcGgtaatactggaacttccatt	11	14	10	6	2	0	3	0	1	0	2	3	5	1	4	1	3	2	2	1	3	4	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:17649509G>A	ENST00000262077.2	-	12	1417	c.1418C>T	c.(1417-1419)cCg>cTg	p.P473L	NUP153_ENST00000537253.1_Missense_Mutation_p.P504L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	473					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AGAGATTTTCGGTAATACTGG	0.363																																																	0													178	166	170					6																	17649509		2203	4300	6503	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1418C>T	6.37:g.17649509G>A	ENSP00000262077:p.Pro473Leu		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.P504L	ENST00000262077.2	37	c.1511	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332287	0.81801	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.62232	0.04;0.04	5.28	5.28	0.74379	Nucleoporin, Nup153-like (1);	0.000000	0.43579	D	0.000557	T	0.77322	0.4113	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80216	-0.1474	10	0.87932	D	0	-2.2318	17.046	0.86502	0.0:0.0:1.0:0.0	.	504;495;473	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	L	473;495;504	ENSP00000262077:P473L;ENSP00000444029:P504L	ENSP00000262077:P473L	P	-	2	0	NUP153	17757488	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.035000	0.70940	2.632000	0.89209	0.591000	0.81541	CCG	NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.363	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	75	0	G			17649509	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	17649509	G	A	17649509	3	1	51	1	0	0	0	0	1	0	0	0	10794	1116	39	1	3053	1	NUP153	6	17649509	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		17649509	153465558	90	12171											
HIST1H4E	8367	genome.wustl.edu	37	chr6	26205070	26205070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgtttctggaaaacgtGattcgtgatgctgtgactta	10	14	12	5	2	1	3	0	3	1	0	2	4	1	4	0	2	2	2	0	2	4	3	rs145407769	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:26205070G>A	ENST00000360441.4	+	1	213	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TGGAAAACGTGATTCGTGATG	0.567																																																	1	Substitution - coding silent(1)	ovary(1)											140	125	130					6																	26205070		2203	4300	6503	SO:0001819	synonymous_variant	0			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"Histones / Replication-dependent"	4790	protein-coding gene	gene with protein product		602830	"H4 histone family, member J", "histone 1, H4e"	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.198G>A	6.37:g.26205070G>A			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V66	ENST00000360441.4	37	c.198	CCDS4593.1	6																																																																																			HIST1H4E	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198518		0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	-	0	68	0	G	NM_003545		26205070	1	tier1	-	no_errors	ENST00000360441	ensembl	human	known	74_37	silent	22.55	79	23	SNP	0.875	A	A	26205070	G	A	26205070	2	1	51	1	0	0	0	0	0	0	0	1	7196	1277	45	3		3	HIST1H4E	6	26205070	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	8555561	26205070	144909997	91	12172											
HIST1H3H	8357	genome.wustl.edu	37	chr6	27777905	27777905	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcggcaaggctccgcgCaagcagctggccaccaaggc	9	2	14	16	4	0	0	0	0	0	0	1	0	1	0	4	5	2	5	4	5	3	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:27777905C>T	ENST00000369163.2	+	1	64	c.54C>T	c.(52-54)cgC>cgT	p.R18R	HIST1H2BL_ENST00000377401.2_5'Flank	NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGGCTCCGCGCAAGCAGCTGG	0.632																																																	0													36	43	40					6																	27777905		2202	4299	6501	SO:0001819	synonymous_variant	0			Z83735	CCDS4627.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000203813	ENSG00000278828		"Histones / Replication-dependent"	4775	protein-coding gene	gene with protein product		602818	"H3 histone family, member K", "histone 1, H3h"	H3FK		9439656, 12408966	Standard	NM_003536		Approved	H3/k, H3F1K	uc003njm.3	P68431	OTTHUMG00000014483	ENST00000369163.2:c.54C>T	6.37:g.27777905C>T			A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R18	ENST00000369163.2	37	c.54	CCDS4627.1	6																																																																																			HIST1H3H	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000203813		0.632	HIST1H3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3H	HGNC	protein_coding	OTTHUMT00000040151.1	-	0	54	0	C	NM_003536		27777905	1	tier1	-	no_errors	ENST00000369163	ensembl	human	known	74_37	silent	42.75	75	56	SNP	1.000	T	T	27777905	C	T	27777905	2	4	51	1	0	0	0	0	0	0	0	1	7189	697	25	3		3	HIST1H3H	6	27777905	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1572835	27777905	143337162	92	12173											
NKAPL	222698	genome.wustl.edu	37	chr6	28227211	28227211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctctcggagaaggcgacGcagctcctcggggagcccac	7	4	16	14	4	1	1	0	0	1	1	4	4	2	2	2	5	2	3	2	5	1	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:28227211G>A	ENST00000343684.3	+	1	114	c.62G>A	c.(61-63)cGc>cAc	p.R21H	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	21										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGAAGGCGACGCAGCTCCTCG	0.667																																																	0													34	32	33					6																	28227211		2203	4300	6503	SO:0001583	missense	0			BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 194"	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.62G>A	6.37:g.28227211G>A	ENSP00000345716:p.Arg21His		Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	pfam_DUF926	p.R21H	ENST00000343684.3	37	c.62	CCDS34353.1	6	.	.	.	.	.	.	.	.	.	.	G	13.33	2.205458	0.39003	.	.	ENSG00000189134	ENST00000343684	T	0.15718	2.4	3.61	2.73	0.32206	.	0.460221	0.22043	N	0.065425	T	0.04497	0.0123	L	0.39633	1.23	0.09310	N	0.999998	B	0.21688	0.059	B	0.12156	0.007	T	0.31888	-0.9927	10	0.41790	T	0.15	-0.0864	6.834	0.23925	0.1302:0.0:0.8698:0.0	.	21	Q5M9Q1	NKAPL_HUMAN	H	21	ENSP00000345716:R21H	ENSP00000345716:R21H	R	+	2	0	NKAPL	28335190	0.001000	0.12720	0.026000	0.17262	0.004000	0.04260	0.299000	0.19138	0.879000	0.35944	0.655000	0.94253	CGC	NKAPL	-	NULL	ENSG00000189134		0.667	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAPL	HGNC	protein_coding	OTTHUMT00000040185.1	-	0	44	0	G			28227211	1	tier1	-	no_errors	ENST00000343684	ensembl	human	known	74_37	missense	51.19	41	43	SNP	0.018	A	A	28227211	G	A	28227211	3	1	51	1	0	0	0	0	1	0	0	0	10479	1087	38	1	64	1	NKAPL	6	28227211	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	449306	28227211	142887856	93	12174											
CUL7	9820	genome.wustl.edu	37	chr6	43010843	43010843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggcccgccaacagcgcGtcaggtttctcatgatgctg	7	8	11	15	4	2	1	2	1	1	0	3	1	2	1	3	2	3	2	3	2	1	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:43010843G>A	ENST00000265348.3	-	18	3516	c.3431C>T	c.(3430-3432)aCg>aTg	p.T1144M	CUL7_ENST00000535468.1_Missense_Mutation_p.T1228M|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1144					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCAACAGCGCGTCAGGTTTCT	0.587																																																	0																																										SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3431C>T	6.37:g.43010843G>A	ENSP00000265348:p.Thr1144Met		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.T1228M	ENST00000265348.3	37	c.3683	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136722	0.77662	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.74737	-0.87;-0.87	5.61	4.75	0.60458	.	0.158179	0.56097	D	0.000039	T	0.79021	0.4376	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	0.985;0.994;1.0;1.0	P;P;D;D	0.83275	0.754;0.777;0.996;0.994	T	0.82283	-0.0534	10	0.87932	D	0	-4.2477	11.7164	0.51655	0.1474:0.0:0.8526:0.0	.	1228;1144;1228;1144	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	M	1144;1228	ENSP00000265348:T1144M;ENSP00000438788:T1228M	ENSP00000265348:T1144M	T	-	2	0	CUL7	43118821	1.000000	0.71417	0.990000	0.47175	0.938000	0.57974	4.085000	0.57657	1.370000	0.46153	0.591000	0.81541	ACG	CUL7	-	NULL	ENSG00000044090		0.587	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	-	0	20	0	G	NM_014780		43010843	-1	tier1	-	no_errors	ENST00000535468	ensembl	human	known	74_37	missense	60.00	12	18	SNP	1.000	A	A	43010843	G	A	43010843	3	1	51	1	0	0	0	0	1	0	0	0	4069	1145	40	1	1701	1	CUL7	6	43010843	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	14783632	43010843	128104224	94	12175											
CAPN11	11131	genome.wustl.edu	37	chr6	44148528	44148528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccagaggctgctcaacaGgatggccatcaaatgtgagt	11	8	12	10	0	2	2	2	1	0	1	3	3	3	3	2	3	2	3	2	3	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:44148528G>T	ENST00000398776.1	+	17	1828	c.1790G>T	c.(1789-1791)aGg>aTg	p.R597M	CAPN11_ENST00000542245.1_Missense_Mutation_p.R597M	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	597	Domain IV.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTCAACAGGATGGCCATC	0.592																																																	0													107	123	118					6																	44148528		2079	4199	6278	SO:0001583	missense	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1790G>T	6.37:g.44148528G>T	ENSP00000381758:p.Arg597Met		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R597M	ENST00000398776.1	37	c.1790	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	g	11.08	1.532990	0.27387	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	T;T	0.30981	1.51;1.51	4.91	-1.31	0.09230	EF-hand-like domain (1);	0.693142	0.13119	N	0.412349	T	0.24431	0.0592	L	0.55213	1.73	0.09310	N	0.999998	D;D	0.58268	0.979;0.982	P;B	0.57371	0.819;0.226	T	0.16335	-1.0406	10	0.49607	T	0.09	.	10.664	0.45719	0.6401:0.0:0.3599:0.0	.	251;597	B4DT90;Q9UMQ6	.;CAN11_HUMAN	M	597	ENSP00000381758:R597M;ENSP00000441078:R597M	ENSP00000381758:R597M	R	+	2	0	CAPN11	44256506	0.998000	0.40836	0.109000	0.21407	0.142000	0.21351	0.953000	0.29162	-0.403000	0.07622	-0.478000	0.04885	AGG	CAPN11	-	NULL	ENSG00000137225		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3		0	23	0	G			44148528	1			no_errors	ENST00000398776	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.062	T	T	44148528	G	T	44148528	3	4	51	1	0	0	0	0	1	0	0	0	2631	1000	35	3	1856	3	CAPN11	6	44148528	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1137685	44148528	126966539	95	12176											
RUNX2	860	genome.wustl.edu	37	chr6	45390460	45390460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagcagcaGcagcaacagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:45390460G>A	ENST00000371438.1	+	2	547	c.189G>A	c.(187-189)caG>caA	p.Q63Q	RUNX2_ENST00000371432.3_Silent_p.Q49Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q131Q|RUNX2_ENST00000371436.6_Silent_p.Q63Q|RUNX2_ENST00000465038.2_Silent_p.Q63Q|RUNX2_ENST00000576263.1_Silent_p.Q63Q|RUNX2_ENST00000541979.1_Silent_p.Q131Q|RUNX2_ENST00000359524.5_Silent_p.Q49Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	63	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcagcaacagc	0.736																																																	0													12	17	16					6																	45390460		1448	3124	4572	SO:0001819	synonymous_variant	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.189G>A	6.37:g.45390460G>A			O14614|O14615|O95181	Silent	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.Q131	ENST00000371438.1	37	c.393	CCDS43467.2	6																																																																																			RUNX2	-	NULL	ENSG00000124813		0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2		0	21	0	G	NM_004348		45390460	1			no_errors	ENST00000352853	ensembl	human	known	74_37	silent	12.82	34	5	SNP	1.000	A	A	45390460	G	A	45390460	2	1	51	1	0	0	0	0	0	0	0	1	13793	962	34	3		3	RUNX2	6	45390460	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1241932	45390460	125724607	96	12177											
ZNF292	23036	genome.wustl.edu	37	chr6	87966408	87966408	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaccttaccccacaaaacTtagaaagacaagtgaacaac	18	6	6	11	0	0	4	0	2	0	2	0	4	0	4	3	0	4	0	3	0	8	2	rs146673055	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:87966408T>A	ENST00000369577.3	+	8	3104	c.3061T>A	c.(3061-3063)Tta>Ata	p.L1021I	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1016I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1021						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCCACAAAACTTAGAAAGACA	0.348																																																	0													59	57	58					6																	87966408		1844	4082	5926	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3061T>A	6.37:g.87966408T>A	ENSP00000358590:p.Leu1021Ile		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1021I	ENST00000369577.3	37	c.3061	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986829	0.53934	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.09723	2.95;2.96	5.55	5.55	0.83447	.	0.218305	0.38663	N	0.001604	T	0.06917	0.0176	L	0.50333	1.59	0.32487	N	0.540704	P	0.47350	0.894	B	0.43950	0.437	T	0.06752	-1.0809	10	0.72032	D	0.01	.	10.8312	0.46661	0.0:0.0737:0.0:0.9263	.	1021	O60281	ZN292_HUMAN	I	1021;1016	ENSP00000358590:L1021I;ENSP00000342847:L1016I	ENSP00000342847:L1016I	L	+	1	2	ZNF292	88023127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.573000	0.36472	2.111000	0.64477	0.482000	0.46254	TTA	ZNF292	-	NULL	ENSG00000188994		0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	35	0	T	NM_015021		87966408	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	A	A	87966408	T	A	87966408	3	1	51	1	0	0	0	0	1	0	0	0	17874	1606	56	5	3091	5	ZNF292	6	87966408	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	42575948	87966408	83148659	97	12178											
C6orf165	154313	genome.wustl.edu	37	chr6	88126494	88126494	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccatgattgttactggaAttcgtttatttaacagagac	12	15	7	7	1	1	2	1	1	0	1	2	4	1	3	1	1	2	2	1	1	4	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:88126494A>C	ENST00000507897.1	+	6	663	c.580A>C	c.(580-582)Att>Ctt	p.I194L	C6ORF165_ENST00000369562.4_Missense_Mutation_p.I194L			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	194										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGTTACTGGAATTCGTTTATT	0.358																																																	0													96	92	93					6																	88126494		2203	4300	6503	SO:0001583	missense	0			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.580A>C	6.37:g.88126494A>C	ENSP00000426769:p.Ile194Leu		A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	pfam_DUF3508	p.I194L	ENST00000507897.1	37	c.580	CCDS34498.1	6	.	.	.	.	.	.	.	.	.	.	A	34	5.314796	0.95655	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.60424	0.24;0.19	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.64757	0.2627	M	0.80183	2.485	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.55260	0.772;0.695	T	0.67898	-0.5551	10	0.41790	T	0.15	.	15.6385	0.76977	1.0:0.0:0.0:0.0	.	194;194	Q8IYR0;E1P509	CF165_HUMAN;.	L	194	ENSP00000358575:I194L;ENSP00000422494:I194L	ENSP00000358575:I194L	I	+	1	0	C6orf165	88183213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.847000	0.92166	2.165000	0.68154	0.533000	0.62120	ATT	C6ORF165	-	NULL	ENSG00000272514		0.358	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	Uniprot_gn	protein_coding	OTTHUMT00000470406.1	-	0	58	0	A	NM_178823		88126494	1	tier1	-	no_errors	ENST00000369562	ensembl	human	known	74_37	missense	46.00	27	23	SNP	1.000	C	C	88126494	A	C	88126494	3	2	51	1	0	0	0	0	1	0	0	0	2348	101	4	4	598	4	C6orf165	6	88126494	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	160086	88126494	82988573	98	12179											
ASCC3	10973	genome.wustl.edu	37	chr6	101076966	101076966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgccagcttctgctgaCtccatcccacttctctggcg	5	14	7	15	1	2	1	0	1	2	0	5	1	4	1	3	1	3	2	3	1	0	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:101076966C>A	ENST00000369162.2	-	27	4644	c.4300G>T	c.(4300-4302)Gtc>Ttc	p.V1434F		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1434	Helicase ATP-binding 2. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTCTGCTGACTCCATCCCAC	0.453																																																	0													117	92	100					6																	101076966		2203	4300	6503	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.4300G>T	6.37:g.101076966C>A	ENSP00000358159:p.Val1434Phe		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1434F	ENST00000369162.2	37	c.4300	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223868	0.79576	.	.	ENSG00000112249	ENST00000369162	T	0.35789	1.29	5.78	-0.148	0.13424	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.064420	0.64402	D	0.000009	T	0.36908	0.0984	M	0.73753	2.245	0.80722	D	1	P	0.37955	0.612	P	0.50754	0.649	T	0.45629	-0.9248	10	0.66056	D	0.02	.	12.1104	0.53836	0.0:0.6676:0.0:0.3324	.	1434	Q8N3C0	HELC1_HUMAN	F	1434	ENSP00000358159:V1434F	ENSP00000358159:V1434F	V	-	1	0	ASCC3	101183687	0.398000	0.25279	0.994000	0.49952	0.998000	0.95712	1.010000	0.29898	-0.028000	0.13850	0.591000	0.81541	GTC	ASCC3	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,pfscan_Helicase_ATP-bd	ENSG00000112249		0.453	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	-	0	56	0	C	NM_006828		101076966	-1	tier1	-	no_errors	ENST00000369162	ensembl	human	known	74_37	missense	22.86	54	16	SNP	0.992	A	A	101076966	C	A	101076966	3	1	51	1	0	0	0	0	1	0	0	0	1034	565	20	3	2372	3	ASCC3	6	101076966	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	12950472	101076966	70038101	99	12180											
REV3L	5980	genome.wustl.edu	37	chr6	111685107	111685107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgctgactttgaaaccGtaagtattgtttaaagatgg	12	15	10	4	1	0	3	0	2	0	1	0	3	0	3	1	1	2	5	1	1	6	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:111685107G>A	ENST00000358835.3	-	17	7282	c.6828C>T	c.(6826-6828)taC>taT	p.Y2276Y	REV3L_ENST00000435970.1_Silent_p.Y2198Y|REV3L_ENST00000368802.3_Silent_p.Y2276Y|REV3L_ENST00000368805.1_Silent_p.Y2276Y|REV3L-IT1_ENST00000411895.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2276					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTGAAACCGTAAGTATTGT	0.358								DNA polymerases (catalytic subunits)																																									0													168	151	157					6																	111685107		2203	4300	6503	SO:0001819	synonymous_variant	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6828C>T	6.37:g.111685107G>A			O43214|Q5TC33	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.Y2276	ENST00000358835.3	37	c.6828	CCDS5091.2	6																																																																																			REV3L	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom	ENSG00000009413		0.358	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	90	0	G	NM_002912		111685107	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	silent	23.47	75	23	SNP	0.949	A	A	111685107	G	A	111685107	2	1	51	1	0	0	0	0	0	0	0	1	13285	1140	40	1		1	REV3L	6	111685107	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	10608141	111685107	59429960	100	12181											
TIAM2	26230	genome.wustl.edu	37	chr6	155458470	155458470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacacatgcgattggcagcGatcccctccggcagaacatt	10	7	9	15	3	0	1	0	0	0	1	2	3	2	1	4	2	3	2	4	2	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:155458470G>A	ENST00000461783.3	+	7	2627	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TIAM2_ENST00000529824.2_Missense_Mutation_p.D452N|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.D452N|TIAM2_ENST00000456144.1_Missense_Mutation_p.D452N|TIAM2_ENST00000318981.5_Missense_Mutation_p.D452N			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	452					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GATTGGCAGCGATCCCCTCCG	0.502																																																	0													101	107	105					6																	155458470		2203	4300	6503	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1354G>A	6.37:g.155458470G>A	ENSP00000437188:p.Asp452Asn		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.D452N	ENST00000461783.3	37	c.1354	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442499	0.83993	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.10288	2.97;2.89;2.95;2.97;2.98;2.95	6.08	6.08	0.98989	.	0.104462	0.64402	D	0.000005	T	0.10852	0.0265	M	0.66939	2.045	0.80722	D	1	D	0.53745	0.962	B	0.41299	0.353	T	0.04216	-1.0968	10	0.48119	T	0.1	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	452	Q8IVF5	TIAM2_HUMAN	N	452;698;452;452;452;452;452	ENSP00000437188:D452N;ENSP00000434901:D452N;ENSP00000407746:D452N;ENSP00000327315:D452N;ENSP00000353528:D452N;ENSP00000433348:D452N	ENSP00000327315:D452N	D	+	1	0	TIAM2	155500162	1.000000	0.71417	0.844000	0.33320	0.868000	0.49771	7.303000	0.78871	2.894000	0.99253	0.655000	0.94253	GAT	TIAM2	-	NULL	ENSG00000146426		0.502	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	-	0	40	0	G	NM_012454		155458470	1	tier1	-	no_errors	ENST00000456144	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	A	A	155458470	G	A	155458470	3	1	51	1	0	0	0	0	1	0	0	0	15938	1058	37	1	1360	1	TIAM2	6	155458470	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	43773363	155458470	15656597	101	12182											
NOX3	50508	genome.wustl.edu	37	chr6	155775979	155775979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatgaatgaaataaggtttCgactgacaggtattagaatt	15	14	9	3	1	0	4	0	3	0	1	1	5	0	4	0	2	0	2	0	2	7	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr6:155775979C>T	ENST00000159060.2	-	3	323	c.221G>A	c.(220-222)cGa>cAa	p.R74Q		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	74	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.R74Q(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATAAGGTTTCGACTGACAGG	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											65	64	64					6																	155775979		2203	4299	6502	SO:0001583	missense	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.221G>A	6.37:g.155775979C>T	ENSP00000159060:p.Arg74Gln		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.R74Q	ENST00000159060.2	37	c.221	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364222	0.82463	.	.	ENSG00000074771	ENST00000159060	D	0.98633	-5.04	5.91	5.05	0.67936	Flavoprotein transmembrane component (1);	0.000000	0.51477	D	0.000085	D	0.97879	0.9303	M	0.93550	3.43	0.40176	D	0.977237	P	0.39847	0.691	B	0.34180	0.177	D	0.98321	1.0528	10	0.87932	D	0	-11.3805	15.2862	0.73831	0.0:0.9327:0.0:0.0673	.	74	Q9HBY0	NOX3_HUMAN	Q	74	ENSP00000159060:R74Q	ENSP00000159060:R74Q	R	-	2	0	NOX3	155817671	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.321000	0.72881	1.509000	0.48786	0.650000	0.86243	CGA	NOX3	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000074771		0.368	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	-	0	17	0	C			155775979	-1	tier1	-	no_errors	ENST00000159060	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	T	T	155775979	C	T	155775979	3	4	51	1	0	0	0	0	1	0	0	0	10596	884	31	1	1529	1	NOX3	6	155775979	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	317509	155775979	15339088	102	12183											
FSCN1	6624	genome.wustl.edu	37	chr7	5645038	5645038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcgggcgctacctgaaggGcgaccacgcaggcgtcctga	7	4	17	13	5	0	2	0	2	0	0	1	3	1	2	3	4	1	2	3	4	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:5645038G>T	ENST00000382361.3	+	5	1529	c.1415G>T	c.(1414-1416)gGc>gTc	p.G472V	FSCN1_ENST00000340250.6_Missense_Mutation_p.G451V	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	472					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TACCTGAAGGGCGACCACGCA	0.662																																																	0													47	41	43					7																	5645038		2203	4300	6503	SO:0001583	missense	0			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"Fascins"	11148	protein-coding gene	gene with protein product	"Singed, drosophila, homolog-like", "actin bundling protein"	602689	"singed (Drosophila)-like (sea urchin fascin homolog like)", "fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1415G>T	7.37:g.5645038G>T	ENSP00000371798:p.Gly472Val		A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.G472V	ENST00000382361.3	37	c.1415	CCDS5342.1	7	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872849	0.72180	.	.	ENSG00000075618	ENST00000340250;ENST00000382361;ENST00000535097	T;T	0.41065	1.01;1.01	3.83	3.83	0.44106	Fascin domain (1);Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71889	-0.4456	10	0.87932	D	0	-2.236	15.0633	0.71973	0.0:0.0:1.0:0.0	.	472	Q16658	FSCN1_HUMAN	V	451;472;194	ENSP00000339729:G451V;ENSP00000371798:G472V	ENSP00000339729:G451V	G	+	2	0	FSCN1	5611564	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.350000	0.97070	1.834000	0.53371	0.555000	0.69702	GGC	FSCN1	-	pfam_Fascin-domain,superfamily_Actin_cross-linking	ENSG00000075618		0.662	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN1	HGNC	protein_coding	OTTHUMT00000207153.3		0	25	0	G	NM_003088		5645038	1			no_errors	ENST00000382361	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	5645038	G	T	5645038	3	4	51	1	0	0	0	0	1	0	0	0	6091	1203	42	3	1433	3	FSCN1	7	5645038	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		5645038	153493625	103	12184											
USP42	84132	genome.wustl.edu	37	chr7	6183719	6183719	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgtttgtttcaaggtgTaaaaagatggttccagcttc	9	17	9	6	0	2	1	1	0	1	1	4	1	3	1	1	2	1	5	1	2	4	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:6183719T>C	ENST00000306177.5	+	9	1040	c.882T>C	c.(880-882)tgT>tgC	p.C294C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	294	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTTCAAGGTGTAAAAAGATGG	0.323																																																	0													125	113	116					7																	6183719		1829	4091	5920	SO:0001819	synonymous_variant	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.882T>C	7.37:g.6183719T>C			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.C294	ENST00000306177.5	37	c.882	CCDS47535.1	7																																																																																			USP42	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000106346		0.323	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3	-	0	92	0	T	XM_166526		6183719	1	tier1	-	no_errors	ENST00000306177	ensembl	human	known	74_37	silent	10.47	154	18	SNP	1.000	C	C	6183719	T	C	6183719	2	2	51	1	0	0	0	0	0	0	0	1	17122	1644	57	4		4	USP42	7	6183719	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	538681	6183719	152954944	104	12185											
PHF14	9678	genome.wustl.edu	37	chr7	11030418	11030418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtctgggagataataGtgaggacgctgatgaaataa	13	12	13	3	1	1	4	0	3	1	1	1	6	1	5	0	2	0	2	0	2	4	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:11030418G>A	ENST00000403050.3	+	4	1441	c.989G>A	c.(988-990)aGt>aAt	p.S330N	PHF14_ENST00000445996.2_Missense_Mutation_p.S45N	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	330					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GGAGATAATAGTGAGGACGCT	0.373																																																	0													116	106	109					7																	11030418		1876	4125	6001	SO:0001583	missense	0			AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"Zinc fingers, PHD-type"	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.989G>A	7.37:g.11030418G>A	ENSP00000385795:p.Ser330Asn		A7MCZ3|B4DI82	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S330N	ENST00000403050.3	37	c.989	CCDS47542.1	7	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014917	0.75161	.	.	ENSG00000106443	ENST00000403050;ENST00000445996	D;D	0.87412	-2.25;-2.25	5.08	5.08	0.68730	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.93887	0.8044	M	0.87097	2.86	0.80722	D	1	D;D;D;B	0.62365	0.981;0.985;0.991;0.375	D;D;D;B	0.76575	0.916;0.95;0.988;0.138	D	0.92058	0.5654	10	0.20046	T	0.44	.	18.86	0.92268	0.0:0.0:1.0:0.0	.	45;45;330;330	O94880-2;B4DG57;A8MSQ1;O94880	.;.;.;PHF14_HUMAN	N	330;45	ENSP00000385795:S330N;ENSP00000403907:S45N	ENSP00000385795:S330N	S	+	2	0	PHF14	10996943	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.795000	0.99099	2.529000	0.85273	0.585000	0.79938	AGT	PHF14	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000106443		0.373	PHF14-001	KNOWN	basic|CCDS	protein_coding	PHF14	HGNC	protein_coding	OTTHUMT00000318212.1	-	0	82	0	G	NM_014660		11030418	1	tier1	-	no_errors	ENST00000403050	ensembl	human	known	74_37	missense	12.61	104	15	SNP	1.000	A	A	11030418	G	A	11030418	3	1	51	1	0	0	0	0	1	0	0	0	11864	1029	36	3	1003	3	PHF14	7	11030418	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	4846699	11030418	148108245	105	12186											
ANKMY2	57037	genome.wustl.edu	37	chr7	16640502	16640502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggattggaatccttttGagagatacctacttcagcct	10	14	8	9	0	2	2	2	1	0	1	3	5	3	4	3	2	3	0	3	2	3	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:16640502G>C	ENST00000306999.2	-	10	1453	c.1210C>G	c.(1210-1212)Caa>Gaa	p.Q404E		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	404						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAATCCTTTTGAGAGATACCT	0.423																																																	0													92	88	89					7																	16640502		2203	4300	6503	SO:0001583	missense	0			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1210C>G	7.37:g.16640502G>C	ENSP00000303570:p.Gln404Glu		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.Q404E	ENST00000306999.2	37	c.1210	CCDS5361.1	7	.	.	.	.	.	.	.	.	.	.	G	4.248	0.045062	0.08196	.	.	ENSG00000106524	ENST00000306999	T	0.70045	-0.45	5.4	4.4	0.53042	.	0.848885	0.10690	N	0.645246	T	0.50548	0.1622	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.22277	-1.0221	10	0.19147	T	0.46	-23.654	10.0639	0.42292	0.0:0.0:0.7523:0.2477	.	404	Q8IV38	ANKY2_HUMAN	E	404	ENSP00000303570:Q404E	ENSP00000303570:Q404E	Q	-	1	0	ANKMY2	16607027	0.303000	0.24463	0.006000	0.13384	0.002000	0.02628	2.651000	0.46674	2.685000	0.91497	0.655000	0.94253	CAA	ANKMY2	-	NULL	ENSG00000106524		0.423	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKMY2	HGNC	protein_coding	OTTHUMT00000207600.2	-	0	26	0	G	NM_020319		16640502	-1	tier1	-	no_errors	ENST00000306999	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.003	C	C	16640502	G	C	16640502	3	2	51	1	0	0	0	0	1	0	0	0	635	1299	45	5	119	5	ANKMY2	7	16640502	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	5610084	16640502	142498161	106	12187											
HDAC9	9734	genome.wustl.edu	37	chr7	18788705	18788705	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccctgagcatgctggaCgaatacagagtatctggtca	11	8	10	12	1	2	2	1	1	1	1	2	4	2	3	2	2	3	3	2	2	3	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:18788705C>T	ENST00000432645.2	+	13	1978	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	HDAC9_ENST00000406451.4_Nonsense_Mutation_p.R660*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.R663*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.R619*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	660	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCATGCTGGACGAATACAGAG	0.438																																																	0													83	82	82					7																	18788705		1933	4160	6093	SO:0001587	stop_gained	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1978C>T	7.37:g.18788705C>T	ENSP00000410337:p.Arg660*		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R663*	ENST00000432645.2	37	c.1987	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.221734	0.98146	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.3	3.31	0.37934	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3111	11.7707	0.51956	0.5463:0.4537:0.0:0.0	.	.	.	.	X	660;619;660;663;572	.	ENSP00000339165:R572X	R	+	1	2	HDAC9	18755230	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.122000	0.41987	1.425000	0.47237	0.563000	0.77884	CGA	HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	68	0	C			18788705	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	nonsense	36.25	51	29	SNP	1.000	T	T	18788705	C	T	18788705	4	4	51	1	0	0	0	0	0	1	0	0	7041	528	19	1	2088	1	HDAC9	7	18788705	Nonsense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	2148203	18788705	140349958	107	12188											
ELMO1	9844	genome.wustl.edu	37	chr7	36934566	36934566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgctcttgaactggtccagGgagctaggcttggttgtaag	7	13	14	7	0	1	1	0	1	1	0	2	2	2	2	1	4	3	5	1	4	3	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:36934566G>A	ENST00000310758.4	-	17	2141	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S	ELMO1_ENST00000442504.1_Silent_p.S498S|ELMO1_ENST00000396045.3_Silent_p.S18S|ELMO1_ENST00000341056.3_Silent_p.S200S|ELMO1_ENST00000396040.2_Silent_p.S18S|ELMO1_ENST00000448602.1_Silent_p.S498S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	498					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACTGGTCCAGGGAGCTAGGCT	0.512																																																	0													210	189	196					7																	36934566		2203	4300	6503	SO:0001819	synonymous_variant	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1494C>T	7.37:g.36934566G>A			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.S498	ENST00000310758.4	37	c.1494	CCDS5449.1	7																																																																																			ELMO1	-	NULL	ENSG00000155849		0.512	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	101	0	G	NM_130442		36934566	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	48.41	81	76	SNP	0.989	A	A	36934566	G	A	36934566	2	1	51	1	0	0	0	0	0	0	0	1	5081	1219	43	3		3	ELMO1	7	36934566	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	18145861	36934566	122204097	108	12189											
TXNDC3	51314	genome.wustl.edu	37	chr7	37903985	37903985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctattatcaaaccggatGctgtgattagtaaaaaagtt	14	14	8	5	1	1	1	1	1	0	0	1	2	1	2	1	1	3	4	1	1	7	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:37903985G>T	ENST00000199447.4	+	9	862	c.490G>T	c.(490-492)Gct>Tct	p.A164S	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.A164S	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	164	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CAAACCGGATGCTGTGATTAG	0.284																																																	0													25	27	27					7																	37903985		2190	4288	6478	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.490G>T	7.37:g.37903985G>T	ENSP00000199447:p.Ala164Ser		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.A164S	ENST00000199447.4	37	c.490	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640712	0.67244	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T;T	0.59224	0.28;0.28;0.28	4.65	4.65	0.58169	.	0.127555	0.35970	N	0.002870	T	0.73210	0.3558	M	0.83692	2.655	0.28989	N	0.888164	P	0.45986	0.87	P	0.57057	0.812	T	0.70872	-0.4754	10	0.52906	T	0.07	-13.7046	13.7472	0.62883	0.0:0.0:1.0:0.0	.	164	Q8N427	TXND3_HUMAN	S	164;109;109;164	ENSP00000199447:A164S;ENSP00000390596:A109S;ENSP00000397063:A164S	ENSP00000199447:A164S	A	+	1	0	TXNDC3	37870510	1.000000	0.71417	0.479000	0.27329	0.036000	0.12997	2.363000	0.44178	2.522000	0.85027	0.563000	0.77884	GCT	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase	ENSG00000086288		0.284	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1		0	32	0	G	NM_016616		37903985	1			no_errors	ENST00000199447	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.964	T	T	37903985	G	T	37903985	3	4	51	1	0	0	0	0	1	0	0	0	16847	1319	46	3	516	3	TXNDC3	7	37903985	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	969419	37903985	121234678	109	12190											
CDK13	8621	genome.wustl.edu	37	chr7	40027590	40027590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaactttaaaaaatgAcaaagcaaaaacaaagccac	21	6	7	7	0	0	1	0	1	0	0	0	2	0	2	1	2	4	1	1	2	8	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:40027590A>G	ENST00000181839.4	+	2	2209	c.1604A>G	c.(1603-1605)gAc>gGc	p.D535G	CDK13_ENST00000340829.5_Missense_Mutation_p.D535G|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	535					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTAAAAAATGACAAAGCAAAA	0.383																																																	0													65	57	60					7																	40027590		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.1604A>G	7.37:g.40027590A>G	ENSP00000181839:p.Asp535Gly		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D535G	ENST00000181839.4	37	c.1604	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585051	0.66105	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.69435	-0.4;-0.4	6.03	6.03	0.97812	.	.	.	.	.	T	0.68550	0.3013	L	0.51422	1.61	0.54753	D	0.999987	P;P	0.42692	0.787;0.682	P;B	0.46585	0.521;0.321	T	0.66763	-0.5841	8	.	.	.	-8.5262	16.5582	0.84512	1.0:0.0:0.0:0.0	.	535;535	Q14004-2;Q14004	.;CDK13_HUMAN	G	535	ENSP00000181839:D535G;ENSP00000340557:D535G	.	D	+	2	0	CDK13	39994115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.863000	0.75489	2.308000	0.77769	0.533000	0.62120	GAC	CDK13	-	NULL	ENSG00000065883		0.383	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	-	0	29	0	A	NM_003718		40027590	1	tier1	-	no_errors	ENST00000181839	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	G	G	40027590	A	G	40027590	3	3	51	1	0	0	0	0	1	0	0	0	3136	275	10	4	1610	4	CDK13	7	40027590	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	2123605	40027590	119111073	110	12191											
AEBP1	165	genome.wustl.edu	37	chr7	44153728	44153728	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagacccagttggagccTgagtttgagacccagctgga	9	10	13	9	0	0	3	0	3	0	2	0	7	0	5	3	2	2	3	3	2	0	3	rs571681478	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:44153728T>C	ENST00000223357.3	+	21	3650	c.3345T>C	c.(3343-3345)ccT>ccC	p.P1115P	AEBP1_ENST00000450684.2_Silent_p.P690P	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1115	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGTTGGAGCCTGAGTTTGAGA	0.567													T|||	2	0.000399361	0	0	5008	,	,		15409	0		0	False		,,,				2504	0.002																0													121	113	115					7																	44153728		2203	4300	6503	SO:0001819	synonymous_variant	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3345T>C	7.37:g.44153728T>C			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Silent	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.P1115	ENST00000223357.3	37	c.3345	CCDS5476.1	7																																																																																			AEBP1	-	NULL	ENSG00000106624		0.567	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2		0	17	0	T	NM_001129		44153728	1			no_errors	ENST00000223357	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.092	C	C	44153728	T	C	44153728	2	2	51	1	0	0	0	0	0	0	0	1	349	1567	55	4		4	AEBP1	7	44153728	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	4126138	44153728	114984935	111	12192											
CAMK2B	816	genome.wustl.edu	37	chr7	44279215	44279215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccccatggtggtgcCggaggccgcggtggacattg	6	6	16	13	3	0	0	0	0	0	0	0	2	0	2	5	6	2	0	5	6	0	1	rs560190297	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:44279215C>T	ENST00000395749.2	-	13	1070	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Missense_Mutation_p.G332S|CAMK2B_ENST00000502837.2_Missense_Mutation_p.G203S|CAMK2B_ENST00000440254.2_Missense_Mutation_p.G332S|CAMK2B_ENST00000350811.3_Missense_Mutation_p.G332S|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000395747.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	332					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ATGGTGGTGCCGGAGGCCGCG	0.682													C|||	3	0.000599042	0	0	5008	,	,		11434	0		0	False		,,,				2504	0.0031																0													57	40	45					7																	44279215		1901	3632	5533	SO:0001583	missense	0			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"CaM-kinase II beta chain", "calcium/calmodulin-dependent protein kinase type II beta chain", "CaM kinase II beta subunit", "proline rich calmodulin-dependent protein kinase"	607707	"calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.994G>A	7.37:g.44279215C>T	ENSP00000379098:p.Gly332Ser		A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G332S	ENST00000395749.2	37	c.994	CCDS5483.1	7	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173264	0.57584	.	.	ENSG00000058404	ENST00000350811;ENST00000395749;ENST00000502837;ENST00000440254;ENST00000347193	T;T;T;T;T	0.66280	-0.2;-0.17;0.5;-0.2;-0.17	4.68	4.68	0.58851	Protein kinase-like domain (1);	.	.	.	.	T	0.37972	0.1023	N	0.11201	0.11	0.53688	D	0.999972	B;B;B	0.29212	0.025;0.237;0.001	B;B;B	0.19148	0.008;0.024;0.001	T	0.28138	-1.0053	9	0.26408	T	0.33	.	10.1656	0.42877	0.0:0.9071:0.0:0.0929	.	332;332;332	Q13554-6;Q13554;Q13554-2	.;KCC2B_HUMAN;.	S	332;332;203;332;332	ENSP00000326375:G332S;ENSP00000379098:G332S;ENSP00000422416:G203S;ENSP00000397937:G332S;ENSP00000326544:G332S	ENSP00000326544:G332S	G	-	1	0	CAMK2B	44245740	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.914000	0.39966	2.448000	0.82819	0.557000	0.71058	GGC	CAMK2B	-	superfamily_Kinase-like_dom	ENSG00000058404		0.682	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	CAMK2B	HGNC	protein_coding	OTTHUMT00000251138.2	-	0	79	0	C	NM_172084		44279215	-1	tier1	-	no_errors	ENST00000395749	ensembl	human	known	74_37	missense	15.68	156	29	SNP	1.000	T	T	44279215	C	T	44279215	3	4	51	1	0	0	0	0	1	0	0	0	2607	652	23	1	1053	1	CAMK2B	7	44279215	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	125487	44279215	114859448	112	12193											
IKZF1	10320	genome.wustl.edu	37	chr7	50468024	50468024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccaaccacatcgcccCgcacgcgcgcaacgggctgt	8	4	10	19	6	0	1	0	1	0	0	1	1	0	1	5	1	2	3	5	1	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:50468024C>T	ENST00000331340.3	+	8	1414	c.1259C>T	c.(1258-1260)cCg>cTg	p.P420L	IKZF1_ENST00000346667.4_Missense_Mutation_p.P190L|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000439701.1_Missense_Mutation_p.P378L|IKZF1_ENST00000359197.5_Missense_Mutation_p.P378L|IKZF1_ENST00000357364.4_Missense_Mutation_p.P333L|IKZF1_ENST00000343574.5_Missense_Mutation_p.P333L|IKZF1_ENST00000438033.1_Missense_Mutation_p.P333L|IKZF1_ENST00000349824.4_Missense_Mutation_p.P277L	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	420				PHARNGL -> RRAQRV (in Ref. 2; AAB50683). {ECO:0000305}.	B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACATCGCCCCGCACGCGCGC	0.682			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)											30	37	35					7																	50468024		2168	4257	6425	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1259C>T	7.37:g.50468024C>T	ENSP00000331614:p.Pro420Leu		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P420L	ENST00000331340.3	37	c.1259		7	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312955	0.40895	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.06218	4.68;3.33;3.39;4.4;3.47;3.41;3.33;3.39	5.74	4.83	0.62350	.	0.157303	0.64402	D	0.000019	T	0.06371	0.0164	.	.	.	0.80722	D	1	P;P;B;P;B	0.40066	0.701;0.685;0.434;0.633;0.348	B;B;B;B;B	0.39465	0.3;0.131;0.207;0.207;0.102	T	0.47959	-0.9076	9	0.24483	T	0.36	-19.7179	13.0775	0.59095	0.1269:0.7509:0.1222:0.0	.	333;190;333;378;420	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	L	190;333;378;277;333;420;333;378	ENSP00000340080:P190L;ENSP00000342750:P333L;ENSP00000352123:P378L;ENSP00000342485:P277L;ENSP00000349928:P333L;ENSP00000331614:P420L;ENSP00000396554:P333L;ENSP00000413025:P378L	ENSP00000331614:P420L	P	+	2	0	IKZF1	50435518	0.008000	0.16893	0.036000	0.18154	0.439000	0.31926	2.423000	0.44705	2.706000	0.92434	0.650000	0.86243	CCG	IKZF1	-	NULL	ENSG00000185811		0.682	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	-	0	26	0	C	NM_006060		50468024	1	tier1	-	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	59.38	13	19	SNP	0.235	T	T	50468024	C	T	50468024	3	4	51	1	0	0	0	0	1	0	0	0	7641	652	23	1	1285	1	IKZF1	7	50468024	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	6188809	50468024	108670639	113	12194											
ZNF736	728927	genome.wustl.edu	37	chr7	63808677	63808677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacccatagcaaaacctgtCaatgtaataaatgtggcaga	16	9	7	9	0	1	1	1	0	0	1	1	1	1	1	2	1	3	3	2	1	8	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:63808677C>A	ENST00000423484.2	+	4	558	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	ZNF736_ENST00000355095.4_Missense_Mutation_p.Q146K			B4DX44	ZN736_HUMAN	zinc finger protein 736	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						CAAAACCTGTCAATGTAATAA	0.383																																																	0													153	126	134					7																	63808677		692	1591	2283	SO:0001583	missense	0				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.436C>A	7.37:g.63808677C>A	ENSP00000400852:p.Gln146Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q146K	ENST00000423484.2	37	c.436	CCDS55114.1	7	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.492737	0.01009	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.04360	3.64;3.64	0.593	-1.08	0.09936	.	.	.	.	.	T	0.01592	0.0051	N	0.01410	-0.885	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47787	-0.9090	9	0.25106	T	0.35	.	5.7515	0.18150	0.0:0.3626:0.6374:0.0	.	146	B4DX44	ZN736_HUMAN	K	146	ENSP00000347210:Q146K;ENSP00000400852:Q146K	ENSP00000347210:Q146K	Q	+	1	0	ZNF736	63446112	0.002000	0.14202	0.002000	0.10522	0.012000	0.07955	0.424000	0.21330	-0.435000	0.07264	0.305000	0.20034	CAA	ZNF736	-	NULL	ENSG00000234444		0.383	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	HGNC	protein_coding	OTTHUMT00000344559.2	-	0	33	0	C	NM_001170905		63808677	1	tier1	-	no_errors	ENST00000355095	ensembl	human	known	74_37	missense	50.00	40	40	SNP	0.000	A	A	63808677	C	A	63808677	3	1	51	1	0	0	0	0	1	0	0	0	18173	827	29	3	450	3	ZNF736	7	63808677	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	13340653	63808677	95329986	114	12195											
MAGI2	9863	genome.wustl.edu	37	chr7	77885499	77885499	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaatggttaaggtcataAgttcagcttgggtggcccca	10	11	11	9	0	3	0	3	0	0	0	3	0	3	0	2	4	1	3	2	4	3	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:77885499A>C	ENST00000354212.4	-	10	2061	c.1808T>G	c.(1807-1809)cTt>cGt	p.L603R	MAGI2_ENST00000522391.1_Missense_Mutation_p.L603R|MAGI2_ENST00000535697.1_Missense_Mutation_p.L440R|MAGI2_ENST00000536571.1_Missense_Mutation_p.L435R|MAGI2_ENST00000419488.1_Missense_Mutation_p.L603R	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	603					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TAAGGTCATAAGTTCAGCTTG	0.522																																																	0													80	73	75					7																	77885499		2203	4300	6503	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1808T>G	7.37:g.77885499A>C	ENSP00000346151:p.Leu603Arg		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.L603R	ENST00000354212.4	37	c.1808	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727221	0.69074	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.85	4.7	0.59300	PDZ/DHR/GLGF (1);	0.000000	0.33217	U	0.005151	T	0.63260	0.2496	M	0.78049	2.395	0.58432	D	0.999998	D;P;D;D;D;D	0.89917	0.999;0.856;0.991;0.991;1.0;0.996	D;P;P;P;D;P	0.79108	0.986;0.57;0.786;0.786;0.992;0.823	T	0.66384	-0.5937	10	0.87932	D	0	.	10.9973	0.47585	0.9275:0.0:0.0725:0.0	.	440;435;603;603;603;603	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	R	603;603;603;603;435;440	ENSP00000405766:L603R;ENSP00000346151:L603R;ENSP00000428389:L603R;ENSP00000441584:L435R;ENSP00000441603:L440R	ENSP00000346151:L603R	L	-	2	0	MAGI2	77723435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	1.038000	0.40049	0.459000	0.35465	CTT	MAGI2	-	superfamily_PDZ	ENSG00000187391		0.522	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0	35	0	A	NM_012301		77885499	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	C	C	77885499	A	C	77885499	3	2	51	1	0	0	0	0	1	0	0	0	9229	72	3	4	2611	4	MAGI2	7	77885499	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	14076822	77885499	81253164	115	12196											
SAMD9L	219285	genome.wustl.edu	37	chr7	92760745	92760745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgacttcatttttttTccacacatccccactgtgcc	6	17	4	14	0	2	1	1	1	1	0	4	1	4	1	4	0	1	0	4	0	0	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:92760745T>C	ENST00000318238.4	-	5	5756	c.4540A>G	c.(4540-4542)Aaa>Gaa	p.K1514E	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K1514E|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K1514E	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1514					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.K1514E(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATTTTTTTTCCACACATCC	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											129	127	128					7																	92760745		2203	4300	6503	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4540A>G	7.37:g.92760745T>C	ENSP00000326247:p.Lys1514Glu		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.K1514E	ENST00000318238.4	37	c.4540	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	T	10.79	1.449131	0.26074	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805;ENST00000394472	T;T;T	0.27720	1.65;1.65;1.65	4.55	0.329	0.15924	.	0.290123	0.31721	N	0.007167	T	0.11707	0.0285	N	0.05441	-0.05	0.31332	N	0.684684	P	0.37573	0.6	B	0.35510	0.204	T	0.31916	-0.9926	10	0.13853	T	0.58	-7.8236	8.2306	0.31595	0.0:0.3022:0.0:0.6978	.	1514	Q8IVG5	SAM9L_HUMAN	E	1514;1514;1514;336	ENSP00000326247:K1514E;ENSP00000405760:K1514E;ENSP00000408796:K1514E	ENSP00000326247:K1514E	K	-	1	0	SAMD9L	92598681	1.000000	0.71417	0.997000	0.53966	0.686000	0.39977	2.603000	0.46266	0.185000	0.20105	0.383000	0.25322	AAA	SAMD9L	-	NULL	ENSG00000177409		0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	34	0	T	NM_152703		92760745	-1	tier1	rs150584880	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	C	C	92760745	T	C	92760745	3	2	51	1	0	0	0	0	1	0	0	0	13872	1792	62	4	218	4	SAMD9L	7	92760745	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	14875246	92760745	66377918	116	12197											
CCDC132	55610	genome.wustl.edu	37	chr7	92902025	92902025	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaggttcaacaagcttatCgacttcttggaaaaacacag	15	9	7	10	1	2	0	1	0	1	0	3	2	2	1	1	2	3	2	1	2	6	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:92902025C>T	ENST00000305866.5	+	11	909	c.781C>T	c.(781-783)Cga>Tga	p.R261*	CCDC132_ENST00000541136.1_Nonsense_Mutation_p.R72*|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Nonsense_Mutation_p.R261*|CCDC132_ENST00000544910.1_Nonsense_Mutation_p.R231*	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	261						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ACAAGCTTATCGACTTCTTGG	0.323																																																	0													77	74	75					7																	92902025		2203	4298	6501	SO:0001587	stop_gained	0			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.781C>T	7.37:g.92902025C>T	ENSP00000307666:p.Arg261*		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Nonsense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.R261*	ENST00000305866.5	37	c.781	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414318	0.83449	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136	.	.	.	5.64	2.63	0.31362	.	0.121474	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-24.1895	14.5196	0.67842	0.5412:0.4588:0.0:0.0	.	.	.	.	X	261;261;231;72	.	ENSP00000251739:R261X	R	+	1	2	CCDC132	92739961	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.001000	0.49488	0.826000	0.34661	-0.158000	0.13435	CGA	CCDC132	-	pfam_Vacuolar_sorting-assoc_54	ENSG00000004766		0.323	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	-	0	54	0	C	NM_017667		92902025	1	tier1	-	no_errors	ENST00000305866	ensembl	human	known	74_37	nonsense	9.09	60	6	SNP	1.000	T	T	92902025	C	T	92902025	4	4	51	1	0	0	0	0	0	1	0	0	2774	876	31	1	823	1	CCDC132	7	92902025	Nonsense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	141280	92902025	66236638	117	12198											
PLOD3	8985	genome.wustl.edu	37	chr7	100860513	100860515	+	In_Frame_Del	DEL	GCA	GCA	-																															cgcagggggcagcagcagcgGcagcagcagcaggaaccggg																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:100860513_100860515delGCA	ENST00000223127.3	-	1	439_441	c.41_43delTGC	c.(40-45)ctgccg>ccg	p.L14del	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	14					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	agcagcagcggcagcagcagcag	0.744																																																	0										16,2378		4,8,1185						0.9	0.9			6	23,4829		5,13,2408	no	coding	PLOD3	NM_001084.4		9,21,3593	A1A1,A1R,RR		0.474,0.6683,0.5382				39,7207				SO:0001651	inframe_deletion	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.41_43delTGC	7.37:g.100860522_100860524delGCA	ENSP00000223127:p.Leu14del		B2R6W6|Q540C3	In_Frame_Del	DEL	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L14in_frame_del	ENST00000223127.3	37	c.43_41	CCDS5715.1	7																																																																																			PLOD3	-	NULL	ENSG00000106397		0.744	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1		0	9	0	GCA			100860515	-1	tier1		no_errors	ENST00000223127	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.998:0.985:0.992	-	-	100860515	GCA	-	100860513	7	5	51	1	0	1	0	1	0	0	0	0	12142	1203	42	0	2249	0	PLOD3	7	100860513	In_Frame_Del	DEL	GCA	TCGA-L5-A43I-01A-11D-A247-09	7958488	100860513	58278150	118	12199											
CUX1	1523	genome.wustl.edu	37	chr7	101821910	101821910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcacagcttgagcagcaGctgagcgccaaaaacagcac	14	5	9	13	1	1	2	1	2	1	0	2	2	1	2	1	0	7	5	1	0	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:101821910G>A	ENST00000292535.7	+	11	1028	c.990G>A	c.(988-990)caG>caA	p.Q330Q	CUX1_ENST00000550008.2_Silent_p.Q330Q|CUX1_ENST00000556210.1_Silent_p.Q330Q|CUX1_ENST00000547394.2_Silent_p.Q325Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Silent_p.Q295Q|CUX1_ENST00000546411.2_Silent_p.Q330Q|CUX1_ENST00000292538.4_Silent_p.Q341Q|CUX1_ENST00000393824.3_Silent_p.Q302Q|CUX1_ENST00000437600.4_Silent_p.Q339Q|CUX1_ENST00000360264.3_Silent_p.Q341Q|CUX1_ENST00000549414.2_Silent_p.Q330Q	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	330					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGAGCAGCAGCTGAGCGCCA	0.647																																																	0													23	19	20					7																	101821910		2200	4300	6500	SO:0001819	synonymous_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.990G>A	7.37:g.101821910G>A			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.Q341	ENST00000292535.7	37	c.1023	CCDS5721.1	7																																																																																			CUX1	-	superfamily_LemA-like_dom	ENSG00000257923		0.647	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0	22	0	G	NM_001913		101821910	1	tier1	-	no_errors	ENST00000360264	ensembl	human	known	74_37	silent	22.22	21	6	SNP	1.000	A	A	101821910	G	A	101821910	2	1	51	1	0	0	0	0	0	0	0	1	4073	962	34	3		3	CUX1	7	101821910	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	961397	101821910	57316753	119	12200											
ATXN7L1	222255	genome.wustl.edu	37	chr7	105248338	105248338	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcccgttctgtttgtgttCttctaggaaagaaaagaaaa	12	13	9	7	1	3	2	0	0	3	2	3	3	3	3	1	1	1	3	1	1	6	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:105248338C>T	ENST00000419735.3	-	12	2593		c.e12-1		ATXN7L1_ENST00000477775.1_Silent_p.K726K	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1											endometrium(1)|large_intestine(4)|lung(5)	10						TGTTTGTGTTCTTCTAGGAAA	0.403																																																	0													264	216	231					7																	105248338		692	1591	2283	SO:0001630	splice_region_variant	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.2548-1G>A	7.37:g.105248338C>T			A4D0Q2|B4DTS1|Q8N2T0	Splice_Site	SNP	-	e12-1	ENST00000419735.3	37	c.2548-1	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204331	0.79127	.	.	ENSG00000146776	ENST00000419735	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9995	0.89194	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATXN7L1	105035574	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.445000	0.52921	2.691000	0.91804	0.655000	0.94253	.	ATXN7L1	-	-	ENSG00000146776		0.403	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	-	0	145	0	C		Intron	105248338	-1	tier1	-	no_errors	ENST00000419735	ensembl	human	known	74_37	splice_site	15.32	188	34	SNP	1.000	T	T	105248338	C	T	105248338	5	4	51	1	0	0	0	0	0	0	1	0	1217	927	32	3	42	3	ATXN7L1	7	105248338	Splice_Site	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	3426428	105248338	53890325	120	12201											
CDHR3	222256	genome.wustl.edu	37	chr7	105636743	105636743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtggaggcctcaaagcctCcacagagctccaggtgaaca	12	5	11	13	0	1	2	1	1	0	1	3	3	3	3	4	3	3	1	4	3	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:105636743C>T	ENST00000317716.9	+	6	736	c.656C>T	c.(655-657)tCc>tTc	p.S219F	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000542731.1_Missense_Mutation_p.S219F|CDHR3_ENST00000478080.1_Missense_Mutation_p.S131F	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	219	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTCAAAGCCTCCACAGAGCTC	0.567																																																	0													40	43	42					7																	105636743		1979	4146	6125	SO:0001583	missense	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.656C>T	7.37:g.105636743C>T	ENSP00000325954:p.Ser219Phe		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S219F	ENST00000317716.9	37	c.656	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625390	0.28889	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.55052	0.54;0.54;0.54	5.27	4.35	0.52113	Cadherin (4);Cadherin-like (1);	0.190881	0.41823	D	0.000804	T	0.69223	0.3087	M	0.78637	2.42	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.66979	0.948;0.948	T	0.72323	-0.4328	10	0.87932	D	0	-24.187	11.3488	0.49575	0.1799:0.8201:0.0:0.0	.	206;219	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	F	219;219;131	ENSP00000439766:S219F;ENSP00000325954:S219F;ENSP00000417771:S131F	ENSP00000325954:S219F	S	+	2	0	CDHR3	105423979	0.982000	0.34865	1.000000	0.80357	0.056000	0.15407	2.377000	0.44300	2.758000	0.94735	0.555000	0.69702	TCC	CDHR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000128536		0.567	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0	74	0	C	NM_152750		105636743	1	tier1	-	no_errors	ENST00000317716	ensembl	human	known	74_37	missense	20.00	120	30	SNP	1.000	T	T	105636743	C	T	105636743	3	4	51	1	0	0	0	0	1	0	0	0	3127	855	30	3	678	3	CDHR3	7	105636743	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	388405	105636743	53501920	121	12202											
SPAM1	6677	genome.wustl.edu	37	chr7	123594289	123594289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggttattatctttttcCggattgttacaaccatcact	8	17	8	8	1	2	0	1	0	1	0	3	1	3	1	2	3	2	2	2	3	4	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:123594289C>T	ENST00000439500.1	+	4	1278	c.665C>T	c.(664-666)cCg>cTg	p.P222L	SPAM1_ENST00000460182.1_Missense_Mutation_p.P222L|SPAM1_ENST00000340011.5_Missense_Mutation_p.P222L|SPAM1_ENST00000402183.2_Missense_Mutation_p.P222L|SPAM1_ENST00000223028.7_Missense_Mutation_p.P222L	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	222					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.P222L(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TATCTTTTTCCGGATTGTTAC	0.363																																																	2	Substitution - Missense(2)	kidney(2)											81	86	84					7																	123594289		2203	4300	6503	SO:0001583	missense	0			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.665C>T	7.37:g.123594289C>T	ENSP00000402123:p.Pro222Leu		Q8TC30	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.P222L	ENST00000439500.1	37	c.665	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.424301	0.96111	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87273	0.6136	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90270	0.4307	9	.	.	.	-52.5414	19.8676	0.96824	0.0:1.0:0.0:0.0	.	222;222	Q8TC30;P38567	.;HYALP_HUMAN	L	222	ENSP00000386028:P222L;ENSP00000417934:P222L;ENSP00000345849:P222L;ENSP00000402123:P222L;ENSP00000223028:P222L	.	P	+	2	0	SPAM1	123381525	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCG	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	ENSG00000106304		0.363	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	-	0	28	0	C			123594289	1	tier1	-	no_errors	ENST00000340011	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T	T	123594289	C	T	123594289	3	4	51	1	0	0	0	0	1	0	0	0	15033	652	23	1	667	1	SPAM1	7	123594289	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	17957546	123594289	35544374	122	12203											
PRSS37	136242	genome.wustl.edu	37	chr7	141537729	141537729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgacattggtggtggCgagggtaaggggctggactt	6	10	19	6	1	0	1	0	1	0	0	0	3	0	2	1	8	0	2	1	8	1	3	rs146733171		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr7:141537729C>T	ENST00000350549.3	-	3	732	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	PRSS37_ENST00000438520.1_Missense_Mutation_p.A121T	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				binding of sperm to zona pellucida (GO:0007339)|cell migration (GO:0016477)|protein maturation (GO:0051604)	extracellular region (GO:0005576)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TTGGTGGTGGCGAGGGTAAGG	0.542																																																	0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	188	158	168		361,361	3.6	0	7	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRSS37	NM_001008270.2,NM_001171951.1	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	121/236,121/235	141537729	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS34764.1	7q34	2010-05-07			ENSG00000165076	ENSG00000165076		"Serine peptidases / Serine peptidases"	29211	protein-coding gene	gene with protein product							Standard	NM_001008270		Approved		uc003vws.2	A4D1T9	OTTHUMG00000157174	ENST00000350549.3:c.361G>A	7.37:g.141537729C>T	ENSP00000297767:p.Ala121Thr		B2RPB5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A121T	ENST00000350549.3	37	c.361	CCDS34764.1	7	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246811	0.39697	0.0	1.16E-4	ENSG00000165076	ENST00000350549;ENST00000438520	T;T	0.44881	0.91;0.91	5.45	3.56	0.40772	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.442134	0.21665	N	0.070959	T	0.59569	0.2203	M	0.69358	2.11	0.27504	N	0.951898	D;D	0.58268	0.982;0.982	D;P	0.63597	0.916;0.888	T	0.56372	-0.7990	10	0.72032	D	0.01	.	14.097	0.65029	0.0:0.6973:0.3027:0.0	.	121;121	B7ZMK3;A4D1T9	.;PRS37_HUMAN	T	121	ENSP00000297767:A121T;ENSP00000414461:A121T	ENSP00000297767:A121T	A	-	1	0	PRSS37	141184198	1.000000	0.71417	0.011000	0.14972	0.001000	0.01503	4.589000	0.61006	1.517000	0.48917	-0.176000	0.13171	GCC	PRSS37	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000165076		0.542	PRSS37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS37	HGNC	protein_coding	OTTHUMT00000347763.1	-	0	81	0	C	NM_001008270		141537729	-1	tier1	rs146733171	no_errors	ENST00000350549	ensembl	human	known	74_37	missense	23.66	100	31	SNP	0.850	T	T	141537729	C	T	141537729	3	4	51	1	0	0	0	0	1	0	0	0	12668	768	27	1	358	1	PRSS37	7	141537729	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	17943440	141537729	17600934	123	12204											
DLC1	10395	genome.wustl.edu	37	chr8	12947941	12947941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcttcagctcttgttcGgtataggaattacgacatcg	9	12	12	8	3	2	0	1	0	1	0	4	2	2	1	0	4	2	4	0	4	4	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:12947941G>A	ENST00000276297.4	-	15	4303	c.3894C>T	c.(3892-3894)acC>acT	p.T1298T	DLC1_ENST00000520226.1_Silent_p.T787T|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.T861T|DLC1_ENST00000512044.2_Silent_p.T895T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1298					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTTGTTCGGTATAGGAAT	0.527																																																	0													105	95	98					8																	12947941		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3894C>T	8.37:g.12947941G>A			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.T1298	ENST00000276297.4	37	c.3894	CCDS5989.1	8																																																																																			DLC1	-	NULL	ENSG00000164741		0.527	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	17	0	G	NM_182643, NM_006094		12947941	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	silent	33.33	16	8	SNP	0.001	A	A	12947941	G	A	12947941	2	1	51	1	0	0	0	0	0	0	0	1	4564	1103	39	1		1	DLC1	8	12947941	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		12947941	133416081	124	12205											
ADAM7	8756	genome.wustl.edu	37	chr8	24349447	24349447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtccatatgcagaccggCgaaagatgaatgtgattttc	12	10	12	7	2	0	4	0	2	0	2	2	5	1	4	2	2	1	1	2	2	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:24349447C>T	ENST00000175238.6	+	14	1471	c.1388C>T	c.(1387-1389)gCg>gTg	p.A463V	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.A463V|ADAM7_ENST00000520720.1_Missense_Mutation_p.A235V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	463	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGCAGACCGGCGAAAGATGAA	0.443																																																	0													66	58	61					8																	24349447		2203	4300	6503	SO:0001583	missense	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1388C>T	8.37:g.24349447C>T	ENSP00000175238:p.Ala463Val		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A463V	ENST00000175238.6	37	c.1388	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974333	0.18736	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.12672	2.66;2.66;2.66	5.68	2.81	0.32909	Blood coagulation inhibitor, Disintegrin (5);	0.217993	0.32301	N	0.006283	T	0.30198	0.0757	M	0.70787	2.145	0.43896	D	0.996524	D;B	0.89917	1.0;0.054	D;B	0.91635	0.999;0.058	T	0.01225	-1.1413	10	0.54805	T	0.06	.	5.8245	0.18546	0.1423:0.6442:0.1373:0.0761	.	235;463	E5RK87;Q9H2U9	.;ADAM7_HUMAN	V	463;463;235;278	ENSP00000175238:A463V;ENSP00000370166:A463V;ENSP00000430400:A235V	ENSP00000175238:A463V	A	+	2	0	ADAM7	24405337	0.023000	0.18921	0.449000	0.26957	0.017000	0.09413	0.188000	0.17018	0.304000	0.22809	-0.119000	0.15052	GCG	ADAM7	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000069206		0.443	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	33	0	C	NM_003817		24349447	1	tier1	rs144309204	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.833	T	T	24349447	C	T	24349447	3	4	51	1	0	0	0	0	1	0	0	0	251	768	27	1	1442	1	ADAM7	8	24349447	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	11401506	24349447	122014575	125	12206											
NRG1	3084	genome.wustl.edu	37	chr8	32406297	32406297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagggcaagaagaaggagcGaggctccggcaagaagccgg	14	1	18	8	3	0	3	0	0	0	3	1	6	1	4	2	5	2	3	2	5	6	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:32406297G>A	ENST00000405005.3	+	1	53	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	NRG1_ENST00000356819.4_Missense_Mutation_p.R18Q|NRG1_ENST00000341377.5_Missense_Mutation_p.R18Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R18Q|NRG1_ENST00000287842.3_Missense_Mutation_p.R18Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R18Q|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Missense_Mutation_p.R18Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R18Q|NRG1_ENST00000519301.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1	18					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAGAAGGAGCGAGGCTCCGGC	0.697																																																	0													34	46	42					8																	32406297		2179	4286	6465	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.53G>A	8.37:g.32406297G>A	ENSP00000384620:p.Arg18Gln		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.R18Q	ENST00000405005.3	37	c.53	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656807	0.67586	.	.	ENSG00000157168	ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	T;T;T;T;T;T;T;T;T	0.77620	-0.54;-0.56;-0.56;-0.25;-0.49;-1.11;-0.35;-0.25;-0.48	4.89	4.89	0.63831	.	1.138130	0.06568	N	0.747941	T	0.68723	0.3032	N	0.24115	0.695	0.28918	N	0.892282	P;P;P;D;P;P;P;P;P	0.53619	0.804;0.799;0.804;0.961;0.876;0.804;0.876;0.953;0.953	B;B;B;B;B;B;B;B;B	0.43445	0.042;0.058;0.058;0.304;0.091;0.042;0.091;0.124;0.42	T	0.59705	-0.7404	10	0.40728	T	0.16	-5.5023	9.3455	0.38107	0.0993:0.0:0.9007:0.0	.	18;17;17;18;18;18;18;18;18	E9PHH4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8	.;.;.;.;.;NRG1_HUMAN;.;.;.	Q	18	ENSP00000430120:R18Q;ENSP00000343395:R18Q;ENSP00000349275:R18Q;ENSP00000287840:R18Q;ENSP00000287845:R18Q;ENSP00000340497:R18Q;ENSP00000287842:R18Q;ENSP00000384620:R18Q;ENSP00000428828:R18Q	ENSP00000287840:R18Q	R	+	2	0	NRG1	32525839	0.184000	0.23200	0.928000	0.36995	0.962000	0.63368	2.490000	0.45294	2.252000	0.74401	0.462000	0.41574	CGA	NRG1	-	NULL	ENSG00000157168		0.697	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1		0	14	0	G			32406297	1			no_errors	ENST00000338921	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.288	A	A	32406297	G	A	32406297	3	1	51	1	0	0	0	0	1	0	0	0	10686	1058	37	1	804	1	NRG1	8	32406297	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	8056850	32406297	113957725	126	12207											
UNC5D	137970	genome.wustl.edu	37	chr8	35616888	35616888	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctcctggaagaaccAaaattgctgcatttcaaagg	14	8	10	9	0	1	1	1	0	0	1	2	3	2	3	2	3	4	3	2	3	5	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:35616888A>G	ENST00000404895.2	+	14	2542	c.2214A>G	c.(2212-2214)ccA>ccG	p.P738P	UNC5D_ENST00000453357.2_Silent_p.P733P|UNC5D_ENST00000287272.2_Silent_p.P669P|UNC5D_ENST00000449677.1_Silent_p.P314P|UNC5D_ENST00000416672.1_Silent_p.P743P|UNC5D_ENST00000420357.1_Silent_p.P671P	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	738					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGGAAGAACCAAAATTGCTGC	0.403																																																	0													168	162	164					8																	35616888		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2214A>G	8.37:g.35616888A>G			Q8WYP7	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P738	ENST00000404895.2	37	c.2214	CCDS6093.2	8																																																																																			UNC5D	-	NULL	ENSG00000156687		0.403	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	53	0	A			35616888	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	silent	51.79	27	29	SNP	0.999	G	G	35616888	A	G	35616888	2	3	51	1	0	0	0	0	0	0	0	1	17044	117	5	4		4	UNC5D	8	35616888	Silent	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	3210591	35616888	110747134	127	12208											
UBR5	51366	genome.wustl.edu	37	chr8	103269913	103269913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactattgaccagaaccaacGcttgaactgcagaagcttct	13	10	7	11	1	1	4	0	2	1	2	1	4	1	4	2	0	6	3	2	0	6	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:103269913G>A	ENST00000520539.1	-	58	8740	c.8134C>T	c.(8134-8136)Cgt>Tgt	p.R2712C	UBR5_ENST00000518205.1_Missense_Mutation_p.R440C|KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000521922.1_Missense_Mutation_p.R2705C|UBR5_ENST00000220959.4_Missense_Mutation_p.R2711C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2712	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAACCAACGCTTGAACTGC	0.318																																					Ovarian(131;96 1741 5634 7352 27489)												0													83	78	80					8																	103269913		2203	4300	6503	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8134C>T	8.37:g.103269913G>A	ENSP00000429084:p.Arg2712Cys		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R2712C	ENST00000520539.1	37	c.8134	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.178172	0.94846	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.47	5.47	0.80525	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.82866	-0.0245	10	0.87932	D	0	.	19.3216	0.94243	0.0:0.0:1.0:0.0	.	2705;2712	E7EMW7;O95071	.;UBR5_HUMAN	C	2712;2711;440;2705	ENSP00000429084:R2712C;ENSP00000220959:R2711C;ENSP00000428693:R440C;ENSP00000427819:R2705C	ENSP00000220959:R2711C	R	-	1	0	UBR5	103339089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.578000	0.87016	0.585000	0.79938	CGT	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0	44	0	G	NM_015902		103269913	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	missense	76.92	36	120	SNP	1.000	A	A	103269913	G	A	103269913	3	1	51	1	0	0	0	0	1	0	0	0	16954	1087	38	1	273	1	UBR5	8	103269913	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	67653025	103269913	43094109	128	12209											
TMEM74	157753	genome.wustl.edu	37	chr8	109797149	109797149	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggatgctggagaagaactaAgtttagacccttccatctcg	11	10	11	9	1	1	3	0	0	1	3	3	5	2	4	2	2	2	2	2	2	4	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:109797149A>C	ENST00000297459.3	-	2	357	c.179T>G	c.(178-180)cTt>cGt	p.L60R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	60					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AGAAGAACTAAGTTTAGACCC	0.522																																																	0													117	117	117					8																	109797149		2203	4300	6503	SO:0001583	missense	0			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.179T>G	8.37:g.109797149A>C	ENSP00000297459:p.Leu60Arg			Missense_Mutation	SNP	NULL	p.L60R	ENST00000297459.3	37	c.179	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	A	9.318	1.057414	0.19907	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.9	-2.88	0.05682	.	0.497767	0.21192	N	0.078635	T	0.20941	0.0504	L	0.29908	0.895	0.09310	N	1	P	0.40834	0.73	B	0.42422	0.387	T	0.11991	-1.0565	9	0.41790	T	0.15	0.1406	3.2201	0.06712	0.4199:0.1127:0.3575:0.11	.	60	Q96NL1	TMM74_HUMAN	R	60	.	ENSP00000297459:L60R	L	-	2	0	TMEM74	109866325	0.000000	0.05858	0.001000	0.08648	0.739000	0.42172	0.033000	0.13754	-0.070000	0.12908	0.533000	0.62120	CTT	TMEM74	-	NULL	ENSG00000164841		0.522	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	HGNC	protein_coding	OTTHUMT00000380755.1	-	0	55	0	A	NM_153015		109797149	-1	tier1	-	no_errors	ENST00000297459	ensembl	human	known	74_37	missense	50.88	28	29	SNP	0.000	C	C	109797149	A	C	109797149	3	2	51	1	0	0	0	0	1	0	0	0	16249	72	3	4	742	4	TMEM74	8	109797149	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	6527236	109797149	36566873	129	12210											
TAF2	6873	genome.wustl.edu	37	chr8	120770358	120770358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatattaagtagccatTgcagttcttcataacttctg	12	15	6	8	0	4	0	2	0	2	0	4	1	4	0	1	0	3	3	1	0	5	8			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:120770358T>C	ENST00000378164.2	-	21	3021	c.2723A>G	c.(2722-2724)cAa>cGa	p.Q908R	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	908					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAGTAGCCATTGCAGTTCTTC	0.308																																																	0													152	153	152					8																	120770358		2203	4298	6501	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2723A>G	8.37:g.120770358T>C	ENSP00000367406:p.Gln908Arg		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.Q908R	ENST00000378164.2	37	c.2723	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462172	0.63513	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.33216	1.42;1.42	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	N	0.14661	0.345	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.05500	-1.0881	10	0.24483	T	0.36	-8.9051	15.8975	0.79346	0.0:0.0:0.0:1.0	.	908	Q6P1X5	TAF2_HUMAN	R	908;32	ENSP00000367406:Q908R;ENSP00000436750:Q32R	ENSP00000367406:Q908R	Q	-	2	0	TAF2	120839539	1.000000	0.71417	0.921000	0.36526	0.998000	0.95712	7.571000	0.82399	2.145000	0.66743	0.528000	0.53228	CAA	TAF2	-	superfamily_ARM-type_fold	ENSG00000064313		0.308	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0	61	0	T	NM_003184		120770358	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	12.50	70	10	SNP	1.000	C	C	120770358	T	C	120770358	3	2	51	1	0	0	0	0	1	0	0	0	15571	1812	63	4	900	4	TAF2	8	120770358	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	10973209	120770358	25593664	130	12211											
ADCY8	114	genome.wustl.edu	37	chr8	132051965	132051965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcgggtccatgggggcCgaggccaggctcaagtgtag	7	7	18	9	2	1	1	1	1	0	0	2	2	2	1	3	5	1	2	3	5	2	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:132051965C>T	ENST00000286355.5	-	1	2707	c.615G>A	c.(613-615)tcG>tcA	p.S205S	ADCY8_ENST00000377928.3_Silent_p.S205S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	205					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCATGGGGGCCGAGGCCAGGC	0.592										HNSCC(32;0.087)																																							0													68	73	71					8																	132051965		2203	4300	6503	SO:0001819	synonymous_variant	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.615G>A	8.37:g.132051965C>T				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S205	ENST00000286355.5	37	c.615	CCDS6363.1	8																																																																																			ADCY8	-	NULL	ENSG00000155897		0.592	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	11	0	C			132051965	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	silent	21.88	24	7	SNP	0.947	T	T	132051965	C	T	132051965	2	4	51	1	0	0	0	0	0	0	0	1	300	639	23	1		1	ADCY8	8	132051965	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	11281607	132051965	14312057	131	12212											
OC90	729330	genome.wustl.edu	37	chr8	133067236	133067236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcattactcaccggcatggGggatcatcagcacactggtg	10	9	11	11	1	4	0	4	0	0	0	4	1	4	1	1	4	2	2	1	4	1	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:133067236G>T	ENST00000443356.2	-	2	124	c.38C>A	c.(37-39)cCc>cAc	p.P13H	OC90_ENST00000254627.3_Missense_Mutation_p.P13H|OC90_ENST00000603859.1_Missense_Mutation_p.P13H|OC90_ENST00000262283.5_Missense_Mutation_p.P209H			Q02509	OC90_HUMAN	otoconin 90	13					lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACCGGCATGGGGGATCATCAG	0.498																																																	0													105	105	105					8																	133067236		692	1591	2283	SO:0001583	missense	0			Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.38C>A	8.37:g.133067236G>T	ENSP00000390050:p.Pro13His		B4DNG8	Missense_Mutation	SNP	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.P13H	ENST00000443356.2	37	c.38		8	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253333	0.22965	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.31769	1.48;1.49;1.48	3.53	3.53	0.40419	.	0.598283	0.16005	N	0.234088	T	0.17195	0.0413	N	0.12182	0.205	0.09310	N	1	B	0.27700	0.186	B	0.19666	0.026	T	0.15150	-1.0447	10	0.66056	D	0.02	-6.262	10.8732	0.46896	0.0:0.0:1.0:0.0	.	13	Q02509-2	.	H	13;13;209	ENSP00000254627:P13H;ENSP00000390050:P13H;ENSP00000262283:P209H	ENSP00000254627:P13H	P	-	2	0	RP11-240B13.2;OC90	133136418	0.119000	0.22226	0.017000	0.16124	0.010000	0.07245	2.409000	0.44583	2.274000	0.75844	0.563000	0.77884	CCC	OC90	-	NULL	ENSG00000258417		0.498	OC90-201	KNOWN	basic	protein_coding	OC90	Uniprot_gn	protein_coding		-	0	19	0	G	NM_001080399		133067236	-1	tier1	-	no_errors	ENST00000443356	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.017	T	T	133067236	G	T	133067236	3	4	51	1	0	0	0	0	1	0	0	0	10853	1232	43	3	1447	3	OC90	8	133067236	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1015271	133067236	13296786	132	12213											
ST3GAL1	6482	genome.wustl.edu	37	chr8	134478219	134478219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccacaacggcgcagcGccggcagcccaccgacctct	7	4	11	19	5	1	0	0	0	1	0	1	1	1	0	5	2	4	3	5	2	1	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:134478219G>A	ENST00000319914.5	-	5	1448	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R141C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R141C|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R141C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	141					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			ACGGCGCAGCGCCGGCAGCCC	0.567																																																	0													84	83	83					8																	134478219		2203	4300	6503	SO:0001583	missense	0			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"Sialyltransferases"	10862	protein-coding gene	gene with protein product	"ST3Gal I"	607187	"sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.421C>T	8.37:g.134478219G>A	ENSP00000318445:p.Arg141Cys		O60677|Q9UN51	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R141C	ENST00000319914.5	37	c.421	CCDS6373.1	8	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579993	0.65992	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652;ENST00000523854;ENST00000517668	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	4.7	4.7	0.59300	.	0.090729	0.64402	D	0.000007	T	0.60274	0.2256	M	0.82323	2.585	0.51767	D	0.999938	D	0.76494	0.999	D	0.68765	0.96	T	0.66200	-0.5983	10	0.87932	D	0	-23.446	12.1681	0.54141	0.0:0.0:0.8294:0.1706	.	141	Q11201	SIA4A_HUMAN	C	141;141;141;141;11;11	ENSP00000318445:R141C;ENSP00000414073:R141C;ENSP00000428540:R141C;ENSP00000430515:R141C;ENSP00000429638:R11C;ENSP00000427720:R11C	ENSP00000318445:R141C	R	-	1	0	ST3GAL1	134547401	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	2.605000	0.46283	2.328000	0.79073	0.561000	0.74099	CGC	ST3GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000008513		0.567	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL1	HGNC	protein_coding	OTTHUMT00000379132.1	-	0	29	0	G	NM_003033		134478219	-1	tier1	-	no_errors	ENST00000319914	ensembl	human	known	74_37	missense	20.43	72	19	SNP	1.000	A	A	134478219	G	A	134478219	3	1	51	1	0	0	0	0	1	0	0	0	15261	1087	38	1	621	1	ST3GAL1	8	134478219	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1410983	134478219	11885803	133	12214											
FAM135B	51059	genome.wustl.edu	37	chr8	139149481	139149481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggagaagcaaccagcacGacgtttttaaaatactgcag	14	8	11	8	2	0	1	0	0	0	1	0	3	0	1	1	2	5	4	1	2	5	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:139149481G>A	ENST00000395297.1	-	19	4094	c.3924C>T	c.(3922-3924)gtC>gtT	p.V1308V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1308										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAACCAGCACGACGTTTTTAA	0.423										HNSCC(54;0.14)																																							0													131	127	128					8																	139149481		1861	4108	5969	SO:0001819	synonymous_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3924C>T	8.37:g.139149481G>A			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.V1308	ENST00000395297.1	37	c.3924	CCDS6375.2	8																																																																																			FAM135B	-	pfam_DUF676_lipase-like	ENSG00000147724		0.423	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	19	0	G	NM_015912		139149481	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	17.50	33	7	SNP	0.998	A	A	139149481	G	A	139149481	2	1	51	1	0	0	0	0	0	0	0	1	5468	1045	37	1		1	FAM135B	8	139149481	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	4671262	139149481	7214541	134	12215											
ZNF623	9831	genome.wustl.edu	37	chr8	144732067	144732067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgttgtcttttgtttcaGattctaatgtaggaactggt	7	21	9	4	0	3	1	1	0	2	1	3	2	3	2	0	2	1	3	0	2	3	9			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr8:144732067G>C	ENST00000501748.2	+	1	114	c.25G>C	c.(25-27)Gat>Cat	p.D9H	ZNF623_ENST00000526926.1_Splice_Site|ZNF623_ENST00000458270.2_Splice_Site	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTTTGTTTCAGATTCTAATGT	0.433																																																	0													109	93	98					8																	144732067		2203	4300	6503	SO:0001583	missense	0			AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"Zinc fingers, C2H2-type"	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.25G>C	8.37:g.144732067G>C	ENSP00000445979:p.Asp9His		A4FU80|B4DGP3|E7ENV5	Splice_Site	SNP	-	e1-1	ENST00000501748.2	37	c.1-1	CCDS34957.1	8	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855826	0.51376	.	.	ENSG00000183309	ENST00000532796;ENST00000501748	T	0.08193	3.12	3.5	3.5	0.40072	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.30765	N	0.743709	D	0.59767	0.986	P	0.51453	0.67	T	0.00950	-1.1503	9	0.02654	T	1	.	10.8182	0.46589	0.0:0.0:1.0:0.0	.	9	O75123	ZN623_HUMAN	H	9	ENSP00000445979:D9H	ENSP00000445979:D9H	D	+	1	0	ZNF623	144803210	0.997000	0.39634	0.962000	0.40283	0.911000	0.54048	1.794000	0.38774	2.272000	0.75746	0.655000	0.94253	GAT	ZNF623	-	-	ENSG00000183309		0.433	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF623	HGNC	protein_coding	OTTHUMT00000382522.3	-	0	30	0	G	NM_014789		144732067	1	tier1	-	no_errors	ENST00000458270	ensembl	human	known	74_37	splice_site	19.35	50	12	SNP	0.995	C	C	144732067	G	C	144732067	3	2	51	1	0	0	0	0	1	0	0	0	18095	956	33	5	27	5	ZNF623	8	144732067	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	5582586	144732067	1631955	135	12216											
PSAT1	29968	genome.wustl.edu	37	chr9	80916876	80916876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctttcacagaaatgaGtcacaggtcatcagattttg	11	14	7	9	0	4	3	4	1	0	2	5	3	5	3	1	1	0	0	1	1	1	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr9:80916876G>T	ENST00000376588.3	+	3	196	c.128G>T	c.(127-129)aGt>aTt	p.S43I	PSAT1_ENST00000347159.2_Missense_Mutation_p.S43I	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	43					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						ACAGAAATGAGTCACAGGTCA	0.318																																					Colon(34;187 791 10662 18313 37609)												0													129	126	127					9																	80916876		2203	4300	6503	SO:0001583	missense	0			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.128G>T	9.37:g.80916876G>T	ENSP00000365773:p.Ser43Ile		Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	p.S43I	ENST00000376588.3	37	c.128	CCDS6660.1	9	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562015	0.86335	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.70749	-0.51;-0.51	5.42	5.42	0.78866	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.90017	0.6883	H	0.97051	3.93	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.79108	0.856;0.992	D	0.93176	0.6570	10	0.87932	D	0	-16.8752	19.2521	0.93929	0.0:0.0:1.0:0.0	.	43;43	Q9Y617-2;Q9Y617	.;SERC_HUMAN	I	43	ENSP00000317606:S43I;ENSP00000365773:S43I	ENSP00000317606:S43I	S	+	2	0	PSAT1	80106696	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.668000	0.91158	2.542000	0.85734	0.655000	0.94253	AGT	PSAT1	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	ENSG00000135069		0.318	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSAT1	HGNC	protein_coding	OTTHUMT00000052777.1		0	69	0	G	NM_021154		80916876	1			no_errors	ENST00000376588	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	80916876	G	T	80916876	3	4	51	1	0	0	0	0	1	0	0	0	12686	1029	36	3	138	3	PSAT1	9	80916876	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		80916876	60296555	136	12217											
C9orf64	84267	genome.wustl.edu	37	chr9	86554642	86554642	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcttgcctgtctccAtatgagagcatttctcctgc	6	14	6	15	0	3	1	0	1	3	1	6	2	4	1	5	0	3	1	5	0	1	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr9:86554642A>T	ENST00000376344.3	-	4	1026	c.810T>A	c.(808-810)taT>taA	p.Y270*	C9orf64_ENST00000314700.1_Nonsense_Mutation_p.Y129*	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	270										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCCTGTCTCCATATGAGAGCA	0.413																																																	0													86	92	90					9																	86554642		2203	4300	6503	SO:0001587	stop_gained	0			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.810T>A	9.37:g.86554642A>T	ENSP00000365522:p.Tyr270*		B2RPI6|Q8N2B1|Q9BT18	Nonsense_Mutation	SNP	pfam_DUF2419	p.Y270*	ENST00000376344.3	37	c.810	CCDS6666.2	9	.	.	.	.	.	.	.	.	.	.	A	36	5.876864	0.97055	.	.	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	4.98	3.84	0.44239	.	0.401706	0.27455	N	0.019291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-4.7515	10.7597	0.46258	0.9245:0.0:0.0755:0.0	.	.	.	.	X	270;129	.	ENSP00000318375:Y129X	Y	-	3	2	C9orf64	85744462	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	1.060000	0.30530	0.861000	0.35504	0.446000	0.29264	TAT	C9orf64	-	pfam_DUF2419	ENSG00000165118		0.413	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf64	HGNC	protein_coding	OTTHUMT00000052865.1		0	26	0	A	NM_032307		86554642	-1			no_errors	ENST00000376344	ensembl	human	known	74_37	nonsense	13.33	13	2	SNP	1.000	T	T	86554642	A	T	86554642	4	4	51	1	0	0	0	0	0	1	0	0	2496	224	8	5	219	5	C9orf64	9	86554642	Nonsense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	5637766	86554642	54658789	137	12218											
CYLC2	1539	genome.wustl.edu	37	chr9	105767543	105767543	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagaatctgaaggtgaaaaAggaggtacagagaaagatag	20	5	13	3	0	1	5	0	2	1	3	1	7	1	6	0	3	1	1	0	3	7	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr9:105767543A>G	ENST00000374798.3	+	5	700	c.630A>G	c.(628-630)aaA>aaG	p.K210K	CYLC2_ENST00000487798.1_Silent_p.K210K	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	210	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGGTGAAAAAGGAGGTACAG	0.358																																																	0													81	77	79					9																	105767543		2203	4300	6503	SO:0001819	synonymous_variant	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.630A>G	9.37:g.105767543A>G			B2R8F4|Q5VVJ9	Silent	SNP	NULL	p.K210	ENST00000374798.3	37	c.630	CCDS35085.1	9																																																																																			CYLC2	-	NULL	ENSG00000155833		0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	-	0	12	0	A	NM_001340		105767543	1	tier1	-	no_errors	ENST00000374798	ensembl	human	known	74_37	silent	69.23	4	9	SNP	0.000	G	G	105767543	A	G	105767543	2	3	51	1	0	0	0	0	0	0	0	1	4151	69	3	4		4	CYLC2	9	105767543	Silent	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	19212901	105767543	35445888	138	12219											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123216149	123216149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaccactttcagaaggtctGgcctgtttttccaaaaggga	10	12	10	9	0	2	1	1	0	1	1	3	2	3	2	3	3	1	2	3	3	4	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr9:123216149G>T	ENST00000349780.4	-	21	2557	c.2378C>A	c.(2377-2379)cCa>cAa	p.P793Q	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.P761Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.P793Q|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.P793Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	793					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGAAGGTCTGGCCTGTTTTT	0.488																																																	0													54	51	52					9																	123216149		2179	4253	6432	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2378C>A	9.37:g.123216149G>T	ENSP00000343818:p.Pro793Gln		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.P793Q	ENST00000349780.4	37	c.2378	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192157	0.58017	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.17370	3.95;3.81;4.01;3.9;2.28	5.79	5.79	0.91817	.	0.103370	0.43579	D	0.000541	T	0.25680	0.0625	N	0.24115	0.695	0.41489	D	0.988213	D;D;D;D	0.89917	0.995;1.0;0.991;0.995	P;D;P;P	0.91635	0.87;0.999;0.813;0.87	T	0.02560	-1.1141	10	0.23891	T	0.37	.	12.5266	0.56089	0.0:0.0:0.8338:0.1662	.	562;793;793;187	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	Q	761;793;793;793;187	ENSP00000354065:P761Q;ENSP00000352258:P793Q;ENSP00000343818:P793Q;ENSP00000353317:P793Q;ENSP00000400395:P187Q	ENSP00000343818:P793Q	P	-	2	0	CDK5RAP2	122255970	0.999000	0.42202	0.990000	0.47175	0.849000	0.48306	3.416000	0.52707	2.733000	0.93635	0.655000	0.94253	CCA	CDK5RAP2	-	NULL	ENSG00000136861		0.488	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1		0	29	0	G	NM_018249		123216149	-1			no_errors	ENST00000349780	ensembl	human	known	74_37	missense	8.00	45	4	SNP	0.996	T	T	123216149	G	T	123216149	3	4	51	1	0	0	0	0	1	0	0	0	3153	1348	47	3	3375	3	CDK5RAP2	9	123216149	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	17448606	123216149	17997282	139	12220											
PMPCA	23203	genome.wustl.edu	37	chr9	139310802	139310802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggaggacctgaacctgCggcctgacccagagccactt	9	6	12	14	1	0	3	0	2	0	1	0	5	0	5	5	3	4	1	5	3	1	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr9:139310802C>T	ENST00000371717.3	+	6	601	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R67W|PMPCA_ENST00000371720.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	198					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CCTGAACCTGCGGCCTGACCC	0.562																																																	0													97	90	92					9																	139310802		2203	4300	6503	SO:0001583	missense	0			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"inositol polyphosphate-5-phosphatase, 72 kD"	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.592C>T	9.37:g.139310802C>T	ENSP00000360782:p.Arg198Trp		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.R198W	ENST00000371717.3	37	c.592	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009012	0.75046	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.18174	2.23;2.23	5.34	2.1	0.27182	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.81914	0.953;0.978;0.995;0.995	T	0.52756	-0.8533	10	0.87932	D	0	.	13.7051	0.62633	0.7732:0.2268:0.0:0.0	.	67;198;198;198	B4DKL3;B4DRK5;Q5SXM9;Q10713	.;.;.;MPPA_HUMAN	W	198;67	ENSP00000360782:R198W;ENSP00000416702:R67W	ENSP00000360782:R198W	R	+	1	2	PMPCA	138430623	1.000000	0.71417	0.925000	0.36789	0.864000	0.49448	3.774000	0.55341	0.231000	0.21079	0.655000	0.94253	CGG	PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000165688		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	-	0	26	0	C	NM_015160		139310802	1	tier1	-	no_errors	ENST00000371717	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	T	T	139310802	C	T	139310802	3	4	51	1	0	0	0	0	1	0	0	0	12179	759	27	1	614	1	PMPCA	9	139310802	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	16094653	139310802	1902629	140	12221											
ITIH5	80760	genome.wustl.edu	37	chr10	7621717	7621717	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacgaagacagaccacagaCccgatgagctgcgagcctgc	12	4	11	14	3	0	4	0	1	0	3	0	7	0	4	3	0	5	1	3	0	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:7621717C>A	ENST00000256861.6	-	9	1497		c.e9+1		ITIH5_ENST00000446830.2_Splice_Site|ITIH5_ENST00000397145.2_Splice_Site|ITIH5_ENST00000434980.1_Splice_Site|ITIH5_ENST00000298441.6_Splice_Site|ITIH5_ENST00000397146.2_Splice_Site	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AGACCACAGACCCGATGAGCT	0.617																																																	0													72	71	71					10																	7621717		2203	4300	6503	SO:0001630	splice_region_variant	0					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1418+1G>T	10.37:g.7621717C>A			Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Splice_Site	SNP	-	e9+1	ENST00000256861.6	37	c.1418+1		10	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768670	0.69878	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.709	0.91649	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITIH5	7661723	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	7.233000	0.78125	2.422000	0.82143	0.462000	0.41574	.	ITIH5	-	-	ENSG00000123243		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	-	0	39	0	C	NM_030569	Intron	7621717	-1	tier1	-	no_errors	ENST00000256861	ensembl	human	known	74_37	splice_site	12.39	99	14	SNP	1.000	A	A	7621717	C	A	7621717	5	1	51	1	0	0	0	0	0	0	1	0	7934	521	18	3	1556	3	ITIH5	10	7621717	Splice_Site	SNP	C	TCGA-L5-A43I-01A-11D-A247-09		7621717	127913030	141	12222											
MASTL	84930	genome.wustl.edu	37	chr10	27454026	27454026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatatccttacaacaccatCaatggcaaaacctagacaag	17	7	6	11	0	1	1	1	0	0	1	2	2	2	2	3	2	3	1	3	2	8	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:27454026C>T	ENST00000375940.4	+	5	644	c.587C>T	c.(586-588)tCa>tTa	p.S196L	MASTL_ENST00000375946.4_Missense_Mutation_p.S196L|MASTL_ENST00000342386.6_Missense_Mutation_p.S196L			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	196	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACAACACCATCAATGGCAAAA	0.318																																																	0													98	97	98					10																	27454026		2203	4300	6503	SO:0001583	missense	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.587C>T	10.37:g.27454026C>T	ENSP00000365107:p.Ser196Leu		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S196L	ENST00000375940.4	37	c.587	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.442356	0.96187	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.80480	-1.38;-1.38;-1.38	5.78	5.78	0.91487	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82586	0.5069	N	0.11892	0.195	0.80722	D	1	D;D;D	0.89917	0.988;0.992;1.0	D;D;D	0.87578	0.958;0.975;0.998	D	0.84558	0.0648	10	0.49607	T	0.09	-17.9165	20.0812	0.97776	0.0:1.0:0.0:0.0	.	196;196;196	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	L	196	ENSP00000365113:S196L;ENSP00000343446:S196L;ENSP00000365107:S196L	ENSP00000343446:S196L	S	+	2	0	MASTL	27494032	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	7.805000	0.86005	2.744000	0.94065	0.586000	0.80456	TCA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.318	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	-	0	31	0	C	NM_032844		27454026	1	tier1	-	no_errors	ENST00000375940	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	T	T	27454026	C	T	27454026	3	4	51	1	0	0	0	0	1	0	0	0	9366	838	29	3	605	3	MASTL	10	27454026	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	19832309	27454026	108080721	142	12223											
ERCC6	2074	genome.wustl.edu	37	chr10	50714021	50714021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcctccagcttcagacGtttctctttgtcctgcagtc	5	15	7	14	2	2	1	1	0	1	1	8	1	5	1	3	0	2	3	3	0	0	3	rs61749175		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:50714021G>A	ENST00000355832.5	-	6	1513	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C		NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	479					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGCTTCAGACGTTTCTCTTTG	0.358								Direct reversal of damage;Nucleotide excision repair (NER)					G|||	1	0.000199681	0	0.0014	5008	,	,		18578	0		0	False		,,,				2504	0																0								G	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	152	139	143		1435	-2.6	0	10	dbSNP_129	143	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ERCC6	NM_000124.2	180	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign	479/1494	50714021	5,13001	2203	4300	6503	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1435C>T	10.37:g.50714021G>A	ENSP00000348089:p.Arg479Cys		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R479C	ENST00000355832.5	37	c.1435	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	G	6.350	0.432655	0.12045	9.08E-4	1.16E-4	ENSG00000225830	ENST00000355832	D	0.93366	-3.21	5.89	-2.57	0.06248	.	.	.	.	.	D	0.86372	0.5917	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.72561	-0.4256	9	0.54805	T	0.06	2.7119	7.1946	0.25845	0.1832:0.0:0.61:0.2068	rs61749175	479	Q03468	ERCC6_HUMAN	C	479	ENSP00000348089:R479C	ENSP00000348089:R479C	R	-	1	0	ERCC6	50384027	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.364000	0.20325	-0.837000	0.04223	0.655000	0.94253	CGT	ERCC6	-	superfamily_P-loop_NTPase	ENSG00000225830		0.358	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0	55	0	G	NM_000124		50714021	-1	tier1	rs61749175	no_errors	ENST00000355832	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.000	A	A	50714021	G	A	50714021	3	1	51	1	0	0	0	0	1	0	0	0	5233	1145	40	1	3110	1	ERCC6	10	50714021	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	23259995	50714021	84820726	143	12224											
ADAMTS14	140766	genome.wustl.edu	37	chr10	72511953	72511953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaagcccatccgccggcGctgcaaccagcacccgtgct	7	4	10	20	4	0	0	0	0	0	0	1	0	1	0	6	1	5	4	6	1	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:72511953G>A	ENST00000373207.1	+	18	2699	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R903H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	900	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATCCGCCGGCGCTGCAACCAG	0.657																																																	0													56	51	53					10																	72511953		2203	4300	6503	SO:0001583	missense	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"ADAM metallopeptidases with thrombospondin type 1 motif"	14899	protein-coding gene	gene with protein product		607506	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.2699G>A	10.37:g.72511953G>A	ENSP00000362303:p.Arg900His		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R903H	ENST00000373207.1	37	c.2708	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117807	0.56505	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.61040	0.14;0.14	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.55834	1.745	0.40437	D	0.980005	P;P	0.38677	0.512;0.642	B;B	0.37239	0.166;0.244	T	0.61922	-0.6963	10	0.48119	T	0.1	.	17.0627	0.86551	0.0:0.0:1.0:0.0	.	900;903	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	H	903;900	ENSP00000362304:R903H;ENSP00000362303:R900H	ENSP00000362303:R900H	R	+	2	0	ADAMTS14	72181959	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.715000	0.84713	2.344000	0.79699	0.655000	0.94253	CGC	ADAMTS14	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000138316		0.657	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	-	0	64	0	G	NM_080722		72511953	1	tier1	-	no_errors	ENST00000373208	ensembl	human	known	74_37	missense	20.25	62	16	SNP	1.000	A	A	72511953	G	A	72511953	3	1	51	1	0	0	0	0	1	0	0	0	259	1087	38	1	2778	1	ADAMTS14	10	72511953	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	21797932	72511953	63022794	144	12225											
PLAU	414236	genome.wustl.edu	37	chr10	75673432	75673432	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcggccatctacaggaGgcaccgggggggctctgtca	6	8	16	11	2	3	0	1	0	2	0	3	1	3	1	2	6	2	3	2	6	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:75673432G>A	ENST00000409178.1	-	3	268				PLAU_ENST00000446342.1_Missense_Mutation_p.R182K|PLAU_ENST00000372762.4_Missense_Mutation_p.R163K|PLAU_ENST00000372764.3_Missense_Mutation_p.R199K|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					ATCTACAGGAGGCACCGGGGG	0.577																																																	0													63	75	71					10																	75673432		2203	4300	6503	SO:0001627	intron_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-599C>T	10.37:g.75673432G>A			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R199K	ENST00000409178.1	37	c.596	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	G	8.601	0.886799	0.17540	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88124	-2.34;-2.34;-2.34	5.25	-7.52	0.01341	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.990993	0.08238	N	0.976508	T	0.69378	0.3104	N	0.04724	-0.175	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.001	T	0.60459	-0.7259	10	0.08179	T	0.78	.	16.7018	0.85351	0.8291:0.0:0.1709:0.0	.	182;163;199;199	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	K	182;199;163;163	ENSP00000388474:R182K;ENSP00000361850:R199K;ENSP00000361848:R163K	ENSP00000361847:R163K	R	+	2	0	PLAU	75343438	0.000000	0.05858	0.004000	0.12327	0.816000	0.46133	-1.192000	0.03052	-1.597000	0.01609	-0.143000	0.13931	AGG	PLAU	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000122861		0.577	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1		0	20	0	G	NM_001001791		75673432	1			no_errors	ENST00000372764	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.000	A	A	75673432	G	A	75673432	1	1	51	0	1	0	0	0	0	0	0	0	12061	1000	35	3		3	PLAU	10	75673432	Intron	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3161479	75673432	59861315	145	12226											
FAM190B	54462	genome.wustl.edu	37	chr10	86259679	86259679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggcagggctccttccagGggatcccacggactgttcca	6	9	12	14	1	0	0	0	0	0	0	4	2	4	2	4	5	0	3	4	5	0	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:86259679G>A	ENST00000224756.8	+	10	2559	c.2374G>A	c.(2374-2376)Ggg>Agg	p.G792R	CCSER2_ENST00000543283.1_Missense_Mutation_p.G219R|CCSER2_ENST00000372088.2_Intron|CCSER2_ENST00000494144.1_Intron	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	792					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CTCCTTCCAGGGGATCCCACG	0.537																																																	0													128	114	119					10																	86259679		2203	4300	6503	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2374G>A	10.37:g.86259679G>A	ENSP00000224756:p.Gly792Arg		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.G792R	ENST00000224756.8	37	c.2374	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	G	19.28	3.798211	0.70567	.	.	ENSG00000107771	ENST00000224756;ENST00000543283	T;T	0.36520	1.54;1.25	5.96	5.96	0.96718	.	0.063428	0.64402	D	0.000011	T	0.57577	0.2063	L	0.56769	1.78	0.42510	D	0.992961	D	0.76494	0.999	D	0.69479	0.964	T	0.57039	-0.7879	10	0.72032	D	0.01	.	17.9083	0.88926	0.0:0.0:1.0:0.0	.	792	Q9H7U1	F190B_HUMAN	R	792;219	ENSP00000224756:G792R;ENSP00000439944:G219R	ENSP00000224756:G792R	G	+	1	0	FAM190B	86249659	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.888000	0.69758	2.833000	0.97629	0.555000	0.69702	GGG	CCSER2	-	NULL	ENSG00000107771		0.537	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2	-	0	21	0	G	NM_018999		86259679	1	tier1	-	no_errors	ENST00000224756	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	A	A	86259679	G	A	86259679	3	1	51	1	0	0	0	0	1	0	0	0	5541	1232	43	3	2408	3	FAM190B	10	86259679	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	10586247	86259679	49275068	146	12227											
HECTD2	143279	genome.wustl.edu	37	chr10	93242782	93242783	+	In_Frame_Ins	INS	-	-	AGG																															gctcacttgctacgacagatINSagctaccttagtggaagctg																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:93242782_93242783insAGG	ENST00000298068.5	+	8	864_865	c.770_771insAGG	c.(769-774)atagct>atAGGagct	p.257_258IA>IGA	HECTD2_ENST00000446394.1_In_Frame_Ins_p.257_258IA>IGA|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_5'Flank	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	257					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTACGACAGATAGCTACCTTAG	0.307																																					NSCLC(12;376 469 1699 39910 41417)												0																																										SO:0001652	inframe_insertion	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"HECT domain containing 2"			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	Exception_encountered	10.37:g.93242782_93242783insAGG	ENSP00000298068:p.Ile257_Ala258insGly		Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	In_Frame_Ins	INS	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.258in_frame_insG	ENST00000298068.5	37	c.770_771	CCDS7414.1	10																																																																																			HECTD2	-	NULL	ENSG00000165338		0.307	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1		0	16	0	-			93242783	1	tier1		no_errors	ENST00000446394	ensembl	human	known	74_37	in_frame_ins	20.00	24	6	INS	1.000:1.000	AGG	AGG	93242783	-	AGG	93242782	7	5	51	1	0	1	1	0	0	0	0	0	7067	1406	49	0	824	0	HECTD2	10	93242782	In_Frame_Ins	INS	-	TCGA-L5-A43I-01A-11D-A247-09	6983103	93242782	42291965	147	12228											
IDE	3416	genome.wustl.edu	37	chr10	94234656	94234656	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttcagtcatcagcaagcgGaggtagtacatggcatgctg	11	9	12	9	1	3	0	3	0	0	0	3	1	3	1	0	3	4	5	0	3	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:94234656G>T	ENST00000265986.6	-	17	2114	c.2058C>A	c.(2056-2058)ctC>ctA	p.L686L	IDE_ENST00000371581.5_Silent_p.L131L|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	686					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TCAGCAAGCGGAGGTAGTACA	0.398																																																	0													90	87	88					10																	94234656		2203	4300	6503	SO:0001819	synonymous_variant	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2058C>A	10.37:g.94234656G>T			B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.L686	ENST00000265986.6	37	c.2058	CCDS7421.1	10																																																																																			IDE	-	superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	-	0	49	0	G	NM_004969		94234656	-1	tier1	-	no_errors	ENST00000265986	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T	T	94234656	G	T	94234656	2	4	51	1	0	0	0	0	0	0	0	1	7520	1161	41	3		3	IDE	10	94234656	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	991874	94234656	41300091	148	12229											
BTRC	8945	genome.wustl.edu	37	chr10	103310478	103310478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattccggaagagtttttcGactacagtttgatgaattcc	10	14	9	8	2	0	3	0	2	0	1	3	5	2	4	2	1	1	3	2	1	3	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:103310478G>A	ENST00000370187.3	+	14	1797	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	BTRC_ENST00000393441.4_Missense_Mutation_p.R519Q|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Missense_Mutation_p.R524Q	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	560					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGAGTTTTTCGACTACAGTTT	0.413																																																	0													172	158	163					10																	103310478		2203	4300	6503	SO:0001583	missense	0			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1679G>A	10.37:g.103310478G>A	ENSP00000359206:p.Arg560Gln		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R560Q	ENST00000370187.3	37	c.1679	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.576790	0.96565	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.59638	0.25;0.25;0.25	6.06	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000005	T	0.60090	0.2242	N	0.16307	0.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.66084	0.941;0.804;0.906	T	0.61969	-0.6953	10	0.36615	T	0.2	-6.067	15.57	0.76326	0.066:0.0:0.934:0.0	.	534;524;560	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	Q	560;519;524	ENSP00000359206:R560Q;ENSP00000377088:R519Q;ENSP00000385339:R524Q	ENSP00000359206:R560Q	R	+	2	0	BTRC	103300468	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.855000	0.99526	1.566000	0.49654	0.655000	0.94253	CGA	BTRC	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000166167		0.413	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	-	0	92	0	G	NM_033637		103310478	1	tier1	-	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	32.00	51	24	SNP	1.000	A	A	103310478	G	A	103310478	3	1	51	1	0	0	0	0	1	0	0	0	1573	1058	37	1	1733	1	BTRC	10	103310478	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	9075822	103310478	32224269	149	12230											
TCERG1L	256536	genome.wustl.edu	37	chr10	132944841	132944841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctccgcggtccttcaGgtccatgggcttctcccaga	5	10	12	14	2	3	1	1	0	2	1	7	2	5	1	4	4	0	1	4	4	0	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:132944841G>A	ENST00000368642.4	-	7	1202	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	373										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CGGTCCTTCAGGTCCATGGGC	0.542																																																	0													126	114	118					10																	132944841		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1117C>T	10.37:g.132944841G>A			Q5VWI2|Q86XM8	Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.L373	ENST00000368642.4	37	c.1117	CCDS7662.2	10																																																																																			TCERG1L	-	superfamily_WW_dom	ENSG00000176769		0.542	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	-	0	31	0	G	NM_174937		132944841	-1	tier1	-	no_errors	ENST00000368642	ensembl	human	known	74_37	silent	15.09	45	8	SNP	1.000	A	A	132944841	G	A	132944841	2	1	51	1	0	0	0	0	0	0	0	1	15733	991	35	3		3	TCERG1L	10	132944841	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	29634363	132944841	2589906	150	12231											
TCERG1L	256536	genome.wustl.edu	37	chr10	133106472	133106472	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatgttatttgggcaccaAcctgggatgggctgaggtgc	8	11	14	8	0	1	1	1	1	0	0	1	2	1	2	2	4	2	3	2	4	3	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr10:133106472A>T	ENST00000368642.4	-	3	756		c.e3+1			NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like											cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTGGGCACCAACCTGGGATGG	0.448																																																	0													43	41	42					10																	133106472		2203	4300	6503	SO:0001630	splice_region_variant	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.670+1T>A	10.37:g.133106472A>T			Q5VWI2|Q86XM8	Splice_Site	SNP	-	e3+2	ENST00000368642.4	37	c.670+2	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015790	0.54468	.	.	ENSG00000176769	ENST00000368642	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9704	0.71229	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TCERG1L	132996462	1.000000	0.71417	0.930000	0.37139	0.530000	0.34684	6.598000	0.74122	2.220000	0.72140	0.383000	0.25322	.	TCERG1L	-	-	ENSG00000176769		0.448	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	-	0	30	0	A	NM_174937	Intron	133106472	-1	tier1	-	no_errors	ENST00000368642	ensembl	human	known	74_37	splice_site	14.49	59	10	SNP	0.989	T	T	133106472	A	T	133106472	5	4	51	1	0	0	0	0	0	0	1	0	15733	57	2	5	1128	5	TCERG1L	10	133106472	Splice_Site	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	161631	133106472	2428275	151	12232											
NUP98	4928	genome.wustl.edu	37	chr11	3744432	3744432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttctatttcttctcggtCatcctgaagtgactcatcat	8	18	5	10	1	6	2	3	2	3	0	8	2	7	2	1	1	0	0	1	1	2	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:3744432C>T	ENST00000324932.7	-	16	2521	c.2101G>A	c.(2101-2103)Gac>Aac	p.D701N	NUP98_ENST00000397004.4_Missense_Mutation_p.D701N|NUP98_ENST00000355260.3_Missense_Mutation_p.D701N|NUP98_ENST00000397007.4_Missense_Mutation_p.D718N|NUP98_ENST00000359171.4_Missense_Mutation_p.D701N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	718					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TCTTCTCGGTCATCCTGAAGT	0.423			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													149	137	141					11																	3744432		2201	4298	6499	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2101G>A	11.37:g.3744432C>T	ENSP00000316032:p.Asp701Asn		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.D701N	ENST00000324932.7	37	c.2101	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.251053	0.80135	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.73	4.73	0.59995	.	0.130958	0.56097	D	0.000031	T	0.47581	0.1453	L	0.36672	1.1	0.33826	D	0.629641	P;P;D;P	0.57899	0.763;0.763;0.981;0.95	B;B;P;P	0.53185	0.21;0.288;0.7;0.72	T	0.52689	-0.8542	9	0.14656	T	0.56	.	14.8555	0.70332	0.0:1.0:0.0:0.0	.	718;701;701;701	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	N	701;701;701;701;718	.	ENSP00000316032:D701N	D	-	1	0	NUP98	3701008	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.663000	0.68038	2.185000	0.69588	0.585000	0.79938	GAC	NUP98	-	NULL	ENSG00000110713		0.423	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0	59	0	C	NM_016320		3744432	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	35.71	45	25	SNP	1.000	T	T	3744432	C	T	3744432	3	4	51	1	0	0	0	0	1	0	0	0	10812	826	29	3	3394	3	NUP98	11	3744432	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09		3744432	131262084	152	12233											
DCHS1	8642	genome.wustl.edu	37	chr11	6648373	6648373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcggggcagacgtaggCgcagaggactggtggggaag	8	4	22	7	3	0	2	0	0	0	2	0	4	0	4	0	8	0	3	0	8	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:6648373C>T	ENST00000299441.3	-	14	6308	c.5897G>A	c.(5896-5898)cGc>cAc	p.R1966H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1966	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACGTAGGCGCAGAGGACT	0.612																																																	0													77	71	73					11																	6648373		2200	4295	6495	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5897G>A	11.37:g.6648373C>T	ENSP00000299441:p.Arg1966His		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1966H	ENST00000299441.3	37	c.5897	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287912	0.59976	.	.	ENSG00000166341	ENST00000299441	T	0.61040	0.14	5.18	5.18	0.71444	Cadherin (1);Cadherin-like (1);	0.000000	0.45361	D	0.000380	T	0.30479	0.0766	N	0.08118	0	0.29655	N	0.843678	P	0.38992	0.653	B	0.22386	0.039	T	0.34279	-0.9835	10	0.42905	T	0.14	.	12.0439	0.53469	0.0:0.8124:0.1876:0.0	.	1966	Q96JQ0	PCD16_HUMAN	H	1966	ENSP00000299441:R1966H	ENSP00000299441:R1966H	R	-	2	0	DCHS1	6604949	0.223000	0.23663	0.999000	0.59377	0.892000	0.51952	4.006000	0.57083	2.700000	0.92200	0.462000	0.41574	CGC	DCHS1	-	superfamily_Cadherin-like	ENSG00000166341		0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	-	0	18	0	C	NM_003737		6648373	-1	tier1	-	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.864	T	T	6648373	C	T	6648373	3	4	51	1	0	0	0	0	1	0	0	0	4296	768	27	1	4031	1	DCHS1	11	6648373	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	2903941	6648373	128358143	153	12234											
TSG101	7251	genome.wustl.edu	37	chr11	18502114	18502114	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtagaggtcactgagaccGgcagtctttcttgctttttg	7	14	11	9	1	3	2	1	1	2	2	3	3	3	2	1	2	1	3	1	2	1	5	rs573872668		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:18502114G>T	ENST00000251968.3	-	10	1567	c.1152C>A	c.(1150-1152)gcC>gcA	p.A384A	TSG101_ENST00000357193.3_Silent_p.A279A|TSG101_ENST00000536719.1_Intron	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	384	SB. {ECO:0000255|PROSITE- ProRule:PRU00644}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CACTGAGACCGGCAGTCTTTC	0.448																																					GBM(99;1348 1396 8611 26475 50572)												0													88	83	85					11																	18502114		2199	4293	6492	SO:0001819	synonymous_variant	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"tumor susceptibility gene 10", "tumor susceptibility gene 101"	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.1152C>A	11.37:g.18502114G>T			Q9BUM5	Silent	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.A384	ENST00000251968.3	37	c.1152	CCDS7842.1	11																																																																																			TSG101	-	NULL	ENSG00000074319		0.448	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1		0	44	0	G	NM_006292		18502114	-1			no_errors	ENST00000251968	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.256	T	T	18502114	G	T	18502114	2	4	51	1	0	0	0	0	0	0	0	1	16664	1103	39	2		2	TSG101	11	18502114	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	11853741	18502114	116504402	154	12235											
LUZP2	338645	genome.wustl.edu	37	chr11	25098874	25098874	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttaattgctacttttgtaGgagggcagaccgtgttccat	8	16	10	7	1	0	1	0	0	0	1	1	2	1	2	2	2	2	4	2	2	3	8			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:25098874G>C	ENST00000336930.6	+	11	924		c.e11-1		LUZP2_ENST00000533227.1_Splice_Site			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TACTTTTGTAGGAGGGCAGAC	0.413																																																	0													123	124	124					11																	25098874		2203	4300	6503	SO:0001630	splice_region_variant	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.859-1G>C	11.37:g.25098874G>C			A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Splice_Site	SNP	-	e11-1	ENST00000336930.6	37	c.859-1	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	G	6.828	0.521899	0.13005	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	.	.	.	5.17	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5683	0.33554	0.146:0.0:0.854:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LUZP2	25055450	1.000000	0.71417	0.329000	0.25429	0.031000	0.12232	2.910000	0.48766	0.909000	0.36697	0.551000	0.68910	.	LUZP2	-	-	ENSG00000187398		0.413	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0	53	0	G	NM_001009909	Intron	25098874	1	tier1	-	no_errors	ENST00000336930	ensembl	human	known	74_37	splice_site	20.90	53	14	SNP	0.770	C	C	25098874	G	C	25098874	5	2	51	1	0	0	0	0	0	0	1	0	9122	1014	35	5	900	5	LUZP2	11	25098874	Splice_Site	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	6596760	25098874	109907642	155	12236											
FOLH1	2346	genome.wustl.edu	37	chr11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcctctgcaattccaCgcctataagcatattctgaa	13	10	5	13	1	2	1	0	1	2	0	3	1	3	1	3	0	4	2	3	0	6	5	rs116795343	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																																	1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.R281H	ENST00000256999.2	37	c.842	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT	FOLH1	-	NULL	ENSG00000086205		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	42	0	C	NM_004476		49204779	-1	tier1	rs116795343	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	5.94	95	6	SNP	0.843	T	T	49204779	C	T	49204779	3	4	51	1	0	0	0	0	1	0	0	0	6001	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	24105905	49204779	85801737	156	12237			1	12		2	2	12	N	C_A	9.16724e-05
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	36	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	8.14	79	7	SNP	1.000	G	G	49204790	A	G	49204790	2	3	51	1	0	0	0	0	0	0	0	1	6001	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	11	49204790	85801726	157	12238			1	12		2	2	12	N	C_A	9.16724e-05
OR4A15	81328	genome.wustl.edu	37	chr11	55135565	55135565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacatggtgacgataatggGcaacctgcttatcatagtga	12	11	10	8	1	1	2	1	2	0	0	1	3	1	2	1	2	3	2	1	2	5	4	rs202169193		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:55135565G>T	ENST00000314706.3	+	1	206	c.206G>T	c.(205-207)gGc>gTc	p.G69V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ACGATAATGGGCAACCTGCTT	0.428																																																	0													100	91	94					11																	55135565		2201	4296	6497	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.206G>T	11.37:g.55135565G>T	ENSP00000325065:p.Gly69Val		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G69V	ENST00000314706.3	37	c.206	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	g	13.55	2.271907	0.40194	.	.	ENSG00000181958	ENST00000314706	T	0.04406	3.63	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.31358	0.0794	H	0.96805	3.885	0.20074	N	0.999932	D	0.89917	1.0	D	0.81914	0.995	T	0.38628	-0.9652	10	0.87932	D	0	.	12.5491	0.56216	0.0:0.0:1.0:0.0	.	69	Q8NGL6	O4A15_HUMAN	V	69	ENSP00000325065:G69V	ENSP00000325065:G69V	G	+	2	0	OR4A15	54892141	0.000000	0.05858	0.187000	0.23214	0.119000	0.20118	0.433000	0.21477	1.785000	0.52413	0.492000	0.49549	GGC	OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181958		0.428	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0	65	0	G	NM_001005275		55135565	1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	40.00	42	28	SNP	0.016	T	T	55135565	G	T	55135565	3	4	51	1	0	0	0	0	1	0	0	0	11079	1203	42	3	208	3	OR4A15	11	55135565	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	5930775	55135565	79870951	158	12239											
OR5AS1	219447	genome.wustl.edu	37	chr11	55798490	55798490	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcaaccagcttctgcTctttgctttgtgcagcttca	7	15	7	12	0	5	1	3	0	2	1	5	1	5	1	1	0	6	5	1	0	1	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:55798490T>G	ENST00000313555.1	+	1	596	c.596T>G	c.(595-597)cTc>cGc	p.L199R		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAGCTTCTGCTCTTTGCTTTG	0.418																																																	0													310	308	309					11																	55798490		2201	4296	6497	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.596T>G	11.37:g.55798490T>G	ENSP00000324111:p.Leu199Arg		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L199R	ENST00000313555.1	37	c.596	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478604	0.63849	.	.	ENSG00000181785	ENST00000313555	T	0.00237	8.47	5.23	5.23	0.72850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31697	U	0.007211	T	0.00637	0.0021	M	0.84511	2.7	0.32197	N	0.578348	D	0.76494	0.999	D	0.72338	0.977	T	0.43097	-0.9412	10	0.87932	D	0	.	13.9484	0.64101	0.0:0.0:0.0:1.0	.	199	Q8N127	O5AS1_HUMAN	R	199	ENSP00000324111:L199R	ENSP00000324111:L199R	L	+	2	0	OR5AS1	55555066	0.000000	0.05858	1.000000	0.80357	0.911000	0.54048	-0.334000	0.07883	1.973000	0.57446	0.523000	0.50628	CTC	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181785		0.418	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	-	0	58	0	T	NM_001001921		55798490	1	tier1	-	no_errors	ENST00000313555	ensembl	human	known	74_37	missense	18.75	65	15	SNP	1.000	G	G	55798490	T	G	55798490	3	3	51	1	0	0	0	0	1	0	0	0	11185	1551	54	4	598	4	OR5AS1	11	55798490	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	662925	55798490	79208026	159	12240											
OR8H3	390152	genome.wustl.edu	37	chr11	55890577	55890577	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctctacttgcgtctcTcatctcttgggagtcaccat	5	16	7	13	1	5	0	2	0	3	0	8	1	5	1	1	1	2	1	1	1	1	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:55890577T>A	ENST00000313472.3	+	1	729	c.729T>A	c.(727-729)tcT>tcA	p.S243S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTTGCGTCTCTCATCTCTTGG	0.403																																																	0													121	115	117					11																	55890577		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.729T>A	11.37:g.55890577T>A			Q6IFB7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S243	ENST00000313472.3	37	c.729	CCDS31519.1	11																																																																																			OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181761		0.403	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	75	0	T	NM_001005201		55890577	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	silent	37.00	63	37	SNP	0.565	A	A	55890577	T	A	55890577	2	1	51	1	0	0	0	0	0	0	0	1	11278	1538	54	5		5	OR8H3	11	55890577	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	92087	55890577	79115939	160	12241											
OR5R1	219479	genome.wustl.edu	37	chr11	56184775	56184775	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaatgttaatatctgtaAgttttcacaacctttatcca	15	16	3	7	0	2	0	1	0	1	0	3	0	3	0	2	0	1	3	2	0	8	8	rs570860563		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:56184775A>C	ENST00000312253.1	-	1	933	c.934T>G	c.(934-936)Tta>Gta	p.L312V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATATCTGTAAGTTTTCACAA	0.308													A|||	1	0.000199681	8e-04	0	5008	,	,		19134	0		0	False		,,,				2504	0																0													51	52	52					11																	56184775		2176	4285	6461	SO:0001583	missense	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"GPCR / Class A : Olfactory receptors"	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.934T>G	11.37:g.56184775A>C	ENSP00000308595:p.Leu312Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L312V	ENST00000312253.1	37	c.934	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	A	6.288	0.421235	0.11928	.	.	ENSG00000174942	ENST00000312253	T	0.00044	8.83	5.65	4.5	0.54988	.	.	.	.	.	T	0.00109	0.0003	N	0.14661	0.345	0.09310	N	1	B	0.26258	0.145	B	0.24155	0.051	T	0.09228	-1.0684	9	0.30854	T	0.27	-3.2026	10.1056	0.42530	0.6747:0.3253:0.0:0.0	.	312	Q8NH85	OR5R1_HUMAN	V	312	ENSP00000308595:L312V	ENSP00000308595:L312V	L	-	1	2	OR5R1	55941351	0.000000	0.05858	0.975000	0.42487	0.155000	0.21991	-0.256000	0.08757	0.949000	0.37715	0.523000	0.50628	TTA	OR5R1	-	NULL	ENSG00000174942		0.308	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	-	0	42	0	A	NM_001004744		56184775	-1	tier1	-	no_errors	ENST00000312253	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.032	C	C	56184775	A	C	56184775	3	2	51	1	0	0	0	0	1	0	0	0	11219	69	3	4	42	4	OR5R1	11	56184775	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	294198	56184775	78821741	161	12242											
PPP2R5B	5526	genome.wustl.edu	37	chr11	64695824	64695824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtacctcaagaccatcCtgcaccgggtctatggcaag	10	8	11	12	1	2	2	1	1	1	1	3	2	3	2	4	2	2	3	4	2	4	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:64695824C>T	ENST00000164133.2	+	6	1271	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	217					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAAGACCATCCTGCACCGGGT	0.592																																																	0													95	83	87					11																	64695824		2201	4297	6498	SO:0001819	synonymous_variant	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.649C>T	11.37:g.64695824C>T			Q13853	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.L217	ENST00000164133.2	37	c.649	CCDS8085.1	11																																																																																			PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.592	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	-	0	41	0	C	NM_006244		64695824	1	tier1	-	no_errors	ENST00000164133	ensembl	human	known	74_37	silent	47.30	39	35	SNP	1.000	T	T	64695824	C	T	64695824	2	4	51	1	0	0	0	0	0	0	0	1	12435	680	24	3		3	PPP2R5B	11	64695824	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	8511049	64695824	70310692	162	12243											
PCNXL3	399909	genome.wustl.edu	37	chr11	65391823	65391823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttcttcttctgtgcccGagacgtggccactggtgagg	4	12	12	13	2	3	2	0	1	3	1	4	3	4	2	3	3	1	0	3	3	0	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:65391823G>A	ENST00000355703.3	+	14	3241	c.2702G>A	c.(2701-2703)cGa>cAa	p.R901Q		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	901						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TTCTGTGCCCGAGACGTGGCC	0.662																																																	0													42	47	46					11																	65391823		2095	4200	6295	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2702G>A	11.37:g.65391823G>A	ENSP00000347931:p.Arg901Gln		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.R901Q	ENST00000355703.3	37	c.2702	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.299870	0.95574	.	.	ENSG00000197136	ENST00000355703	T	0.67865	-0.29	4.75	4.75	0.60458	.	.	.	.	.	T	0.77082	0.4078	M	0.62723	1.935	0.43988	D	0.996682	D	0.64830	0.994	P	0.61201	0.885	T	0.79040	-0.1966	9	0.54805	T	0.06	.	15.2199	0.73303	0.0:0.0:1.0:0.0	.	901	Q9H6A9	PCX3_HUMAN	Q	901	ENSP00000347931:R901Q	ENSP00000347931:R901Q	R	+	2	0	PCNXL3	65148399	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.926000	0.92839	2.199000	0.70637	0.462000	0.41574	CGA	PCNXL3	-	NULL	ENSG00000197136		0.662	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	35	0	G	NM_032223		65391823	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	A	A	65391823	G	A	65391823	3	1	51	1	0	0	0	0	1	0	0	0	11632	1058	37	1	2756	1	PCNXL3	11	65391823	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	695999	65391823	69614693	163	12244											
SPTBN2	6712	genome.wustl.edu	37	chr11	66466512	66466512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccggttgtcccgaagaCggcccagaaattgctgcgct	7	8	12	14	4	0	2	0	0	0	2	2	3	2	2	3	2	2	4	3	2	2	2	rs557577438		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:66466512C>T	ENST00000533211.1	-	19	4149	c.3818G>A	c.(3817-3819)cGt>cAt	p.R1273H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1273H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1273H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1273					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTCCCGAAGACGGCCCAGAAA	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		18059	0		0	False		,,,				2504	0																0													83	80	81					11																	66466512		2200	4295	6495	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3818G>A	11.37:g.66466512C>T	ENSP00000432568:p.Arg1273His		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1273H	ENST00000533211.1	37	c.3818	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390187	0.82902	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.36340	1.26;1.26;1.26	4.7	4.7	0.59300	.	0.067294	0.56097	D	0.000021	T	0.59155	0.2173	M	0.74881	2.28	0.45205	D	0.998214	D	0.89917	1.0	D	0.67725	0.953	T	0.61797	-0.6989	10	0.49607	T	0.09	.	16.5926	0.84770	0.0:1.0:0.0:0.0	.	1273	O15020	SPTN2_HUMAN	H	1273	ENSP00000432568:R1273H;ENSP00000311489:R1273H;ENSP00000433593:R1273H	ENSP00000311489:R1273H	R	-	2	0	SPTBN2	66223088	0.658000	0.27402	1.000000	0.80357	0.987000	0.75469	1.910000	0.39927	2.441000	0.82636	0.655000	0.94253	CGT	SPTBN2	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000173898		0.542	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0	31	0	C	NM_006946		66466512	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	T	T	66466512	C	T	66466512	3	4	51	1	0	0	0	0	1	0	0	0	15167	536	19	1	3434	1	SPTBN2	11	66466512	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1074689	66466512	68540004	164	12245											
UNC93B1	81622	genome.wustl.edu	37	chr11	67759316	67759316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgtcaccagcagcaCcgccagcttagcctgggcgt	8	5	11	17	3	1	0	1	0	0	0	1	0	1	0	5	1	5	3	5	1	1	1	rs4014596		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:67759316C>T	ENST00000227471.2	-	12	1571	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	499					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.V498M(1)									ACCAGCAGCACCGCCAGCTTA	0.741																																																	1	Substitution - Missense(1)	skin(1)											2	2	2					11																	67759316		806	1754	2560	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1492G>A	11.37:g.67759316C>T	ENSP00000227471:p.Val498Met		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.V498M	ENST00000227471.2	37	c.1492		11	.	.	.	.	.	.	.	.	.	.	.	19.11	3.764070	0.69878	.	.	ENSG00000110057	ENST00000227471	D	0.82344	-1.6	4.98	2.8	0.32819	.	0.313238	0.30437	N	0.009625	T	0.66147	0.2760	N	0.19112	0.55	0.29268	N	0.870868	P	0.41265	0.744	B	0.39068	0.289	T	0.65010	-0.6272	10	0.66056	D	0.02	-19.153	2.9617	0.05895	0.2401:0.5562:0.0:0.2037	rs4014596	499	Q9H1C4	UN93B_HUMAN	M	498	ENSP00000227471:V498M	ENSP00000227471:V498M	V	-	1	0	UNC93B1	67515892	0.992000	0.36948	1.000000	0.80357	0.856000	0.48823	1.973000	0.40550	2.318000	0.78349	0.491000	0.48974	GTG	UNC93B1	-	NULL	ENSG00000110057		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding			0	23	0	C	NM_030930		67759316	-1			no_errors	ENST00000227471	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.997	T	T	67759316	C	T	67759316	3	4	51	1	0	0	0	0	1	0	0	0	17046	507	18	3	302	3	UNC93B1	11	67759316	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1292804	67759316	67247200	165	12246											
PPME1	51400	genome.wustl.edu	37	chr11	73936250	73936250	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaatattttcattttagGtgaaacaaaggtcaagaatc	17	14	6	4	0	2	2	2	1	0	1	3	2	2	2	0	2	1	0	0	2	8	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:73936250G>T	ENST00000328257.8	+	5	670	c.347G>T	c.(346-348)gGt>gTt	p.G116V	PPME1_ENST00000398427.4_Splice_Site_p.G116V			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	116					negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					ttCATTTTAGGTGAAACAAAG	0.308																																																	0													46	42	43					11																	73936250		1785	4041	5826	SO:0001630	splice_region_variant	0				CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.347-1G>T	11.37:g.73936250G>T			B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	pirsf_PPase_methylesterase_euk	p.G116V	ENST00000328257.8	37	c.347	CCDS44678.1	11	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763661	0.89932	.	.	ENSG00000214517	ENST00000328257;ENST00000398427	D;D	0.83335	-1.71;-1.71	5.93	5.93	0.95920	.	0.090270	0.85682	D	0.000000	D	0.94351	0.8184	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95440	0.8524	9	.	.	.	.	18.8972	0.92429	0.0:0.0:1.0:0.0	.	116	Q9Y570	PPME1_HUMAN	V	116	ENSP00000329867:G116V;ENSP00000381461:G116V	.	G	+	2	0	PPME1	73613898	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.441000	0.97557	2.818000	0.97014	0.591000	0.81541	GGT	PPME1	-	pirsf_PPase_methylesterase_euk	ENSG00000214517		0.308	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PPME1	HGNC	protein_coding	OTTHUMT00000398254.1	-	0	27	0	G	NM_016147	Missense_Mutation	73936250	1	tier1	-	no_errors	ENST00000328257	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	73936250	G	T	73936250	5	4	51	1	0	0	0	0	0	0	1	0	12389	1275	44	3	365	3	PPME1	11	73936250	Splice_Site	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	6176934	73936250	61070266	166	12247											
USP35	57558	genome.wustl.edu	37	chr11	77924720	77924720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggcccggagcagggCggcctacatctctgcactcc	8	5	14	14	2	1	0	0	0	1	0	3	3	2	2	3	5	3	2	3	5	2	1	rs570683097	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:77924720C>T	ENST00000529308.1	+	11	3179	c.2918C>T	c.(2917-2919)gCg>gTg	p.A973V	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Missense_Mutation_p.A559V|USP35_ENST00000526425.1_Missense_Mutation_p.A704V|USP35_ENST00000530267.1_Missense_Mutation_p.A541V	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	973					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGGAGCAGGGCGGCCTACATC	0.577													c|||	2	0.000399361	0	0.0014	5008	,	,		19001	0.001		0	False		,,,				2504	0																0													49	51	51					11																	77924720		1955	4123	6078	SO:0001583	missense	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2918C>T	11.37:g.77924720C>T	ENSP00000431876:p.Ala973Val			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.A973V	ENST00000529308.1	37	c.2918	CCDS41693.1	11	.	.	.	.	.	.	.	.	.	.	c	20.7	4.035406	0.75617	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.17213	2.91;3.04;2.29;2.96	4.7	4.7	0.59300	.	0.440036	0.18692	N	0.133821	T	0.25121	0.0610	N	0.22421	0.69	0.26596	N	0.973104	B;D	0.65815	0.342;0.995	B;P	0.62740	0.054;0.906	T	0.03898	-1.0994	10	0.54805	T	0.06	-15.5715	13.1795	0.59647	0.0:0.7096:0.2904:0.0	.	973;559	Q9P2H5;E7EWV7	UBP35_HUMAN;.	V	541;973;559;704	ENSP00000435468:A541V;ENSP00000431876:A973V;ENSP00000400825:A559V;ENSP00000434942:A704V	ENSP00000400825:A559V	A	+	2	0	USP35	77602368	0.948000	0.32251	0.968000	0.41197	0.910000	0.53928	1.996000	0.40776	2.436000	0.82500	0.558000	0.71614	GCG	USP35	-	NULL	ENSG00000118369		0.577	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	-	0	31	0	C	XM_290527		77924720	1	tier1	-	no_errors	ENST00000529308	ensembl	human	known	74_37	missense	41.18	29	21	SNP	0.761	T	T	77924720	C	T	77924720	3	4	51	1	0	0	0	0	1	0	0	0	17115	768	27	1	2956	1	USP35	11	77924720	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	3988470	77924720	57081796	167	12248											
DLG2	1740	genome.wustl.edu	37	chr11	83674027	83674027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatattctaaagtgccattgTtgccagagagtagatggttt	11	15	10	5	0	1	2	0	0	1	2	1	3	1	2	2	1	2	3	2	1	5	8			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:83674027T>C	ENST00000532653.1	-	9	1228	c.926A>G	c.(925-927)aAc>aGc	p.N309S	DLG2_ENST00000280241.8_Missense_Mutation_p.N348S|DLG2_ENST00000330014.6_Missense_Mutation_p.N248S|DLG2_ENST00000524982.1_Missense_Mutation_p.N309S|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.N414S|DLG2_ENST00000418306.2_Missense_Mutation_p.N258S|DLG2_ENST00000398301.2_Missense_Mutation_p.N348S|DLG2_ENST00000376104.2_Missense_Mutation_p.N414S|DLG2_ENST00000398309.2_Missense_Mutation_p.N309S|DLG2_ENST00000531015.1_Missense_Mutation_p.N276S|DLG2_ENST00000537455.1_Missense_Mutation_p.N63S			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	131	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGTGCCATTGTTGCCAGAGAG	0.453																																																	0													158	151	153					11																	83674027		1882	4098	5980	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.926A>G	11.37:g.83674027T>C	ENSP00000435849:p.Asn309Ser		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.N414S	ENST00000532653.1	37	c.1241		11	.	.	.	.	.	.	.	.	.	.	T	13.49	2.252311	0.39797	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T;T	0.18502	2.74;2.73;2.52;2.73;2.7;2.65;2.51;2.74;2.7;2.54;2.21;2.37	5.79	5.79	0.91817	PDZ-associated domain of NMDA receptors (1);	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.36672	1.1	0.80722	D	1	P;B;B;P;B;P;B;B	0.48294	0.892;0.339;0.022;0.476;0.049;0.908;0.022;0.002	P;B;B;B;B;P;B;B	0.50570	0.644;0.145;0.038;0.145;0.055;0.6;0.101;0.01	T	0.00804	-1.1559	9	.	.	.	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	276;309;309;248;348;414;309;258	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	S	309;414;258;414;348;248;63;309;309;414;276;348;226	ENSP00000381355:N309S;ENSP00000365272:N414S;ENSP00000402275:N258S;ENSP00000441994:N414S;ENSP00000280241:N348S;ENSP00000381353:N248S;ENSP00000443248:N63S;ENSP00000432894:N309S;ENSP00000435849:N309S;ENSP00000433848:N276S;ENSP00000381346:N348S;ENSP00000381344:N226S	.	N	-	2	0	DLG2	83351675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.552000	0.82192	2.209000	0.71365	0.533000	0.62120	AAC	DLG2	-	pfam_PDZ_assoc,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.453	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	67	0	T	NM_001364		83674027	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	C	C	83674027	T	C	83674027	3	2	51	1	0	0	0	0	1	0	0	0	4569	1725	60	4	1796	4	DLG2	11	83674027	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	5749307	83674027	51332489	168	12249											
DSCAML1	57453	genome.wustl.edu	37	chr11	117392001	117392001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgtcaggcagcaccagctCcgtgttgcgataccagcgga	8	7	12	14	4	1	0	1	0	0	0	3	2	2	1	3	2	5	4	3	2	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:117392001C>T	ENST00000321322.6	-	6	1238	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E143K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	353	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACCAGCTCCGTGTTGCGA	0.627																																																	0													100	84	89					11																	117392001		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1237G>A	11.37:g.117392001C>T	ENSP00000315465:p.Glu413Lys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E413K	ENST00000321322.6	37	c.1237	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391322	0.62066	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66638	-0.22;-0.22	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69324	0.3098	L	0.48935	1.535	0.80722	D	1	P;P	0.41710	0.76;0.689	P;P	0.50708	0.547;0.648	T	0.63346	-0.6658	9	0.15066	T	0.55	.	17.7518	0.88436	0.0:1.0:0.0:0.0	.	143;353	G3V1B5;Q8TD84	.;DSCL1_HUMAN	K	143;413;120	ENSP00000434335:E143K;ENSP00000315465:E413K	ENSP00000315465:E413K	E	-	1	0	DSCAML1	116897211	1.000000	0.71417	0.937000	0.37676	0.943000	0.58893	4.739000	0.62080	2.417000	0.82017	0.609000	0.83330	GAG	DSCAML1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.627	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	30	0	C	NM_020693		117392001	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.998	T	T	117392001	C	T	117392001	3	4	51	1	0	0	0	0	1	0	0	0	4783	864	30	3	5216	3	DSCAML1	11	117392001	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	33717974	117392001	17614515	169	12250											
OR8D2	283160	genome.wustl.edu	37	chr11	124189525	124189525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctcattgatgtgggtgctgGagcaagacagagtcaataag	12	10	13	6	0	2	3	2	1	1	2	3	4	2	4	0	2	2	2	0	2	3	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:124189525G>C	ENST00000357438.2	-	1	659	c.569C>G	c.(568-570)tCc>tGc	p.S190C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GTGGGTGCTGGAGCAAGACAG	0.418																																																	0													96	90	92					11																	124189525		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.569C>G	11.37:g.124189525G>C	ENSP00000350022:p.Ser190Cys		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S190C	ENST00000357438.2	37	c.569	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	g	15.20	2.762727	0.49574	.	.	ENSG00000197263	ENST00000357438	T	0.00262	8.4	3.55	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00384	0.0012	M	0.93854	3.465	0.09310	N	1	B	0.24258	0.1	B	0.26202	0.067	T	0.22871	-1.0204	10	0.87932	D	0	.	13.568	0.61830	0.0:0.1584:0.8416:0.0	.	190	Q9GZM6	OR8D2_HUMAN	C	190	ENSP00000350022:S190C	ENSP00000350022:S190C	S	-	2	0	OR8D2	123694735	0.001000	0.12720	0.243000	0.24186	0.955000	0.61496	0.986000	0.29590	1.086000	0.41228	0.530000	0.56133	TCC	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000197263		0.418	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1		0	65	0	G	NM_001002918		124189525	-1			no_errors	ENST00000357438	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.032	C	C	124189525	G	C	124189525	3	2	51	1	0	0	0	0	1	0	0	0	11271	1174	41	5	369	5	OR8D2	11	124189525	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	6797524	124189525	10816991	170	12251											
PRDM10	56980	genome.wustl.edu	37	chr11	129800980	129800980	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaccacgctctcttcAtgctgcggctgcaggtgcag	5	9	14	13	2	2	0	1	0	1	0	3	0	2	0	1	3	4	6	1	3	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:129800980A>G	ENST00000360871.3	-	11	1692	c.1461T>C	c.(1459-1461)caT>caC	p.H487H	PRDM10_ENST00000358825.5_Silent_p.H487H|PRDM10_ENST00000528746.1_Silent_p.H461H|PRDM10_ENST00000423662.2_Silent_p.H401H|PRDM10_ENST00000526082.1_Silent_p.H401H|PRDM10_ENST00000304538.6_Silent_p.H401H	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGCTCTCTTCATGCTGCGGCT	0.607																																																	0													173	159	164					11																	129800980		2201	4297	6498	SO:0001819	synonymous_variant	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1461T>C	11.37:g.129800980A>G			B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H487	ENST00000360871.3	37	c.1461	CCDS8484.1	11																																																																																			PRDM10	-	NULL	ENSG00000170325		0.607	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0	112	0	A	NM_199437		129800980	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	silent	52.38	90	99	SNP	0.055	G	G	129800980	A	G	129800980	2	3	51	1	0	0	0	0	0	0	0	1	12493	214	8	4		4	PRDM10	11	129800980	Silent	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	5611455	129800980	5205536	171	12252											
NCAPD3	23310	genome.wustl.edu	37	chr11	134054596	134054596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggcgtcaacagctgaaCtgatcacctctagagaccac	13	6	9	13	1	3	3	2	2	1	1	3	4	3	3	2	1	3	2	2	1	4	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr11:134054596C>A	ENST00000534548.2	-	19	2451	c.2387G>T	c.(2386-2388)aGt>aTt	p.S796I	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	796					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AACAGCTGAACTGATCACCTC	0.458																																																	0													84	79	81					11																	134054596		2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2387G>T	11.37:g.134054596C>A	ENSP00000433681:p.Ser796Ile		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.S796I	ENST00000534548.2	37	c.2387	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964643	0.74131	.	.	ENSG00000151503	ENST00000534548	T	0.64803	-0.12	5.59	4.67	0.58626	Armadillo-like helical (1);Armadillo-type fold (1);	0.167713	0.64402	D	0.000005	T	0.75606	0.3872	M	0.72118	2.19	0.80722	D	1	D	0.62365	0.991	P	0.60068	0.868	T	0.78979	-0.1990	10	0.62326	D	0.03	-13.2213	16.1568	0.81675	0.0:0.8662:0.1338:0.0	.	796	P42695	CNDD3_HUMAN	I	796	ENSP00000433681:S796I	ENSP00000431612:S796I	S	-	2	0	NCAPD3	133559806	1.000000	0.71417	0.959000	0.39883	0.820000	0.46376	2.382000	0.44345	1.349000	0.45751	0.655000	0.94253	AGT	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.458	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0	30	0	C	NM_015261		134054596	-1	tier1	-	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	40.62	19	13	SNP	0.996	A	A	134054596	C	A	134054596	3	1	51	1	0	0	0	0	1	0	0	0	10245	565	20	3	2177	3	NCAPD3	11	134054596	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	4253616	134054596	951920	172	12253											
PRMT8	56341	genome.wustl.edu	37	chr12	3692262	3692262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagacggaagagctatcGttcacatctgcattctgcct	10	11	10	10	2	3	3	1	1	2	2	4	4	3	4	1	1	3	3	1	1	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:3692262G>A	ENST00000382622.3	+	8	1257	c.867G>A	c.(865-867)tcG>tcA	p.S289S	PRMT8_ENST00000452611.2_Silent_p.S280S|PRMT8_ENST00000261252.4_Intron	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	289	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AAGAGCTATCGTTCACATCTG	0.502																																																	0													137	109	119					12																	3692262		2203	4300	6503	SO:0001819	synonymous_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.867G>A	12.37:g.3692262G>A			B2RDP0|Q8TBJ8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.S289	ENST00000382622.3	37	c.867	CCDS8521.2	12																																																																																			PRMT8	-	pfam_Arg_MeTrfase	ENSG00000111218		0.502	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	-	0	68	0	G	NM_019854		3692262	1	tier1	-	no_errors	ENST00000382622	ensembl	human	known	74_37	silent	63.64	12	21	SNP	0.454	A	A	3692262	G	A	3692262	2	1	51	1	0	0	0	0	0	0	0	1	12584	1132	40	1		1	PRMT8	12	3692262	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		3692262	130159633	173	12254											
SLC2A14	144195	genome.wustl.edu	37	chr12	7981305	7981305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaagatactcactccgcGtagcattctcctcttttttt	8	16	6	11	2	3	2	1	1	2	1	5	2	4	2	2	0	2	2	2	0	3	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:7981305G>A	ENST00000543909.1	-	11	1499	c.740C>T	c.(739-741)aCg>aTg	p.T247M	SLC2A14_ENST00000535295.1_Missense_Mutation_p.T138M|SLC2A14_ENST00000396589.2_Missense_Mutation_p.T247M|SLC2A14_ENST00000340749.5_Missense_Mutation_p.T224M|SLC2A14_ENST00000542546.1_Missense_Mutation_p.T138M|SLC2A14_ENST00000431042.2_Missense_Mutation_p.T224M|SLC2A14_ENST00000539924.1_Missense_Mutation_p.T262M|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	247					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CTCACTCCGCGTAGCATTCTC	0.423																																																	0													117	111	113					12																	7981305		2203	4300	6503	SO:0001583	missense	0			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.740C>T	12.37:g.7981305G>A	ENSP00000440480:p.Thr247Met		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.T247M	ENST00000543909.1	37	c.740	CCDS8585.1	12	.	.	.	.	.	.	.	.	.	.	G	7.688	0.690375	0.15039	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	3.92	-6.55	0.01854	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.415190	0.27609	N	0.018602	T	0.53578	0.1805	L	0.31845	0.965	0.20074	N	0.999935	B;B;B;B	0.24043	0.044;0.013;0.01;0.096	B;B;B;B	0.29862	0.069;0.042;0.015;0.108	T	0.42344	-0.9457	10	0.62326	D	0.03	.	3.5822	0.07958	0.1123:0.0972:0.4278:0.3626	.	262;138;224;247	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	M	224;247;224;247;138;138;262	ENSP00000340450:T224M;ENSP00000440480:T247M;ENSP00000407287:T224M;ENSP00000379834:T247M;ENSP00000440492:T138M;ENSP00000443903:T138M;ENSP00000445929:T262M	ENSP00000340450:T224M	T	-	2	0	SLC2A14	7872572	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.153000	0.10144	-1.097000	0.03042	-2.451000	0.00208	ACG	SLC2A14	-	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000173262		0.423	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	SLC2A14	HGNC	protein_coding	OTTHUMT00000399836.2	-	0	26	0	G	NM_153449		7981305	-1	tier1	-	no_errors	ENST00000396589	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.000	A	A	7981305	G	A	7981305	3	1	51	1	0	0	0	0	1	0	0	0	14588	1145	40	1	846	1	SLC2A14	12	7981305	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	4289043	7981305	125870590	174	12255											
PRB2	653247	genome.wustl.edu	37	chr12	11546493	11546493	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcctggaggagatcgAgaacttcgggacttgttgtc	7	12	14	8	2	0	2	0	0	0	2	4	6	1	4	1	4	1	2	1	4	1	4	rs549365722	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:11546493A>G	ENST00000389362.4	-	3	554	c.519T>C	c.(517-519)tcT>tcC	p.S173S	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	173	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GAGGAGATCGAGAACTTCGGG	0.607													G|||	4	0.000798722	0.0015	0	5008	,	,		20131	0.001		0.001	False		,,,				2504	0																0													273	254	261					12																	11546493		2199	4299	6498	SO:0001819	synonymous_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.519T>C	12.37:g.11546493A>G			O00599|P02811|P04281	Silent	SNP	NULL	p.S173	ENST00000389362.4	37	c.519	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2		0	76	0	A	NM_006248		11546493	-1			no_errors	ENST00000389362	ensembl	human	known	74_37	silent	5.03	151	8	SNP	0.002	G	G	11546493	A	G	11546493	2	3	51	1	0	0	0	0	0	0	0	1	12485	291	11	4		4	PRB2	12	11546493	Silent	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	3565188	11546493	122305402	175	12256											
GUCY2C	2984	genome.wustl.edu	37	chr12	14766154	14766154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttttggcttcttatccctGctgcctgtcttttctgtaaa	4	20	7	10	0	3	0	0	0	3	0	4	0	4	0	2	1	2	4	2	1	3	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:14766154G>C	ENST00000261170.3	-	27	3255	c.3119C>G	c.(3118-3120)gCa>gGa	p.A1040G	RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1040					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TCTTATCCCTGCTGCCTGTCT	0.438																																																	0													213	224	220					12																	14766154		2203	4300	6503	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3119C>G	12.37:g.14766154G>C	ENSP00000261170:p.Ala1040Gly		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.A1040G	ENST00000261170.3	37	c.3119	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	G	0.558	-0.846327	0.02671	.	.	ENSG00000070019	ENST00000261170	T	0.80994	-1.44	5.85	1.51	0.23008	.	1.187560	0.05776	N	0.607828	T	0.57431	0.2053	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47086	-0.9144	10	0.07813	T	0.8	.	6.2245	0.20700	0.139:0.0:0.3846:0.4764	.	1040	P25092	GUC2C_HUMAN	G	1040	ENSP00000261170:A1040G	ENSP00000261170:A1040G	A	-	2	0	GUCY2C	14657421	0.055000	0.20627	0.000000	0.03702	0.068000	0.16541	2.578000	0.46051	0.366000	0.24427	0.655000	0.94253	GCA	GUCY2C	-	NULL	ENSG00000070019		0.438	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	-	0	107	0	G			14766154	-1	tier1	-	no_errors	ENST00000261170	ensembl	human	known	74_37	missense	27.59	84	32	SNP	0.000	C	C	14766154	G	C	14766154	3	2	51	1	0	0	0	0	1	0	0	0	6923	1319	46	5	106	5	GUCY2C	12	14766154	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3219661	14766154	119085741	176	12257											
PYROXD1	79912	genome.wustl.edu	37	chr12	21614035	21614035	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgagtttagaattttgaAgaaaaagtccttcacttttc	13	15	8	5	0	1	4	1	2	0	2	3	5	2	5	1	1	0	1	1	1	5	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:21614035A>C	ENST00000240651.9	+	8	881	c.827A>C	c.(826-828)aAg>aCg	p.K276T	PYROXD1_ENST00000538582.1_Missense_Mutation_p.K205T|PYROXD1_ENST00000545178.1_3'UTR	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	276							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AGAATTTTGAAGAAAAAGTCC	0.289																																																	0													41	47	45					12																	21614035		2203	4282	6485	SO:0001583	missense	0			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.827A>C	12.37:g.21614035A>C	ENSP00000240651:p.Lys276Thr		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.K276T	ENST00000240651.9	37	c.827	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	A	6.514	0.463044	0.12402	.	.	ENSG00000121350	ENST00000240651;ENST00000538582	.	.	.	5.0	3.86	0.44501	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.536026	0.20407	N	0.092937	T	0.31040	0.0784	N	0.08118	0	0.42422	D	0.992641	B	0.22746	0.074	B	0.27380	0.079	T	0.06588	-1.0818	9	0.22109	T	0.4	.	9.7199	0.40297	0.9184:0.0:0.0816:0.0	.	276	Q8WU10	PYRD1_HUMAN	T	276;205	.	ENSP00000240651:K276T	K	+	2	0	PYROXD1	21505302	0.963000	0.33076	0.825000	0.32803	0.381000	0.30169	2.553000	0.45837	0.883000	0.36040	0.528000	0.53228	AAG	PYROXD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000121350		0.289	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	-	0	64	0	A	NM_024854		21614035	1	tier1	-	no_errors	ENST00000240651	ensembl	human	known	74_37	missense	30.77	45	20	SNP	0.452	C	C	21614035	A	C	21614035	3	2	51	1	0	0	0	0	1	0	0	0	12911	72	3	4	857	4	PYROXD1	12	21614035	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	6847881	21614035	112237860	177	12258											
LDHB	3945	genome.wustl.edu	37	chr12	21788572	21788572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagcttctggttgataacGctggttaatccccgggcatt	7	15	10	9	2	1	1	0	1	1	0	2	1	2	1	2	3	2	5	2	3	3	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:21788572G>A	ENST00000396076.1	-	8	1241	c.909C>T	c.(907-909)agC>agT	p.S303S	LDHB_ENST00000350669.1_Silent_p.S303S	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	303					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						GGTTGATAACGCTGGTTAATC	0.468																																																	0													142	120	127					12																	21788572		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.909C>T	12.37:g.21788572G>A				Silent	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.S303	ENST00000396076.1	37	c.909	CCDS8691.1	12																																																																																			LDHB	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000111716		0.468	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHB	HGNC	protein_coding	OTTHUMT00000258220.2	-	0	87	0	G	NM_002300		21788572	-1	tier1	-	no_errors	ENST00000350669	ensembl	human	known	74_37	silent	38.14	60	37	SNP	0.988	A	A	21788572	G	A	21788572	2	1	51	1	0	0	0	0	0	0	0	1	8729	1078	38	1		1	LDHB	12	21788572	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	174537	21788572	112063323	178	12259											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43819398	43819398	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attacgctaggtggcttgttTacaatttcacagttgtgatc	9	16	9	7	1	1	1	1	1	0	0	2	1	1	1	0	2	2	4	0	2	4	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:43819398T>A	ENST00000389420.3	-	28	4202	c.4203A>T	c.(4201-4203)gtA>gtT	p.V1401V	ADAMTS20_ENST00000395541.2_Silent_p.V519V|ADAMTS20_ENST00000553158.1_Silent_p.V1401V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1401	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTGGCTTGTTTACAATTTCAC	0.403																																																	0													201	157	172					12																	43819398		2203	4300	6503	SO:0001819	synonymous_variant	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4203A>T	12.37:g.43819398T>A			A6NNC9|J3QT00	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1401	ENST00000389420.3	37	c.4203	CCDS31778.2	12																																																																																			ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000173157		0.403	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	78	0	T	NM_025003		43819398	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.931	A	A	43819398	T	A	43819398	2	1	51	1	0	0	0	0	0	0	0	1	266	1741	61	5		5	ADAMTS20	12	43819398	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	22030826	43819398	90032497	179	12260											
CELA1	1990	genome.wustl.edu	37	chr12	51723603	51723603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaccaagcaatggaggggGcccccagagtcaccctgcag	10	5	12	14	0	2	1	2	0	0	1	2	2	2	2	4	3	2	2	4	3	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:51723603G>A	ENST00000293636.1	-	7	664	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	208	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						AATGGAGGGGGCCCCCAGAGT	0.552																																																	0													60	61	61					12																	51723603		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"elastase 1, pancreatic"	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.624C>T	12.37:g.51723603G>A			Q5MLF0|Q6DJT0|Q6ISM6	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G208	ENST00000293636.1	37	c.624	CCDS8812.1	12																																																																																			CELA1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000139610		0.552	CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA1	HGNC	protein_coding	OTTHUMT00000394901.1	-	0	19	0	G	NM_001971		51723603	-1	tier1	-	no_errors	ENST00000293636	ensembl	human	known	74_37	silent	50.00	14	14	SNP	0.031	A	A	51723603	G	A	51723603	2	1	51	1	0	0	0	0	0	0	0	1	3217	1190	42	3		3	CELA1	12	51723603	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	7904205	51723603	82128292	180	12261											
KRT6A	3853	genome.wustl.edu	37	chr12	52886494	52886494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttcacgctcctcagccCgcacccgctggatggtggga	5	9	12	15	3	3	0	2	0	1	0	4	2	4	2	3	3	1	4	3	3	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:52886494C>T	ENST00000330722.6	-	1	547	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	160	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.R160Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCTCAGCCCGCACCCGCTG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											167	155	159					12																	52886494		2203	4300	6503	SO:0001583	missense	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.479G>A	12.37:g.52886494C>T	ENSP00000369317:p.Arg160Gln		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R160Q	ENST00000330722.6	37	c.479	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331881	0.81801	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.85556	-2.0	5.31	2.44	0.29823	.	0.089287	0.44902	D	0.000418	D	0.89891	0.6846	M	0.94063	3.49	0.36885	D	0.889576	D	0.65815	0.995	P	0.48552	0.581	D	0.92540	0.6041	10	0.87932	D	0	.	11.5528	0.50731	0.0:0.7919:0.0:0.2081	.	160	P02538	K2C6A_HUMAN	Q	160;116	ENSP00000369317:R160Q	ENSP00000369317:R160Q	R	-	2	0	KRT6A	51172761	1.000000	0.71417	0.954000	0.39281	0.850000	0.48378	1.951000	0.40333	0.735000	0.32537	0.650000	0.86243	CGG	KRT6A	-	NULL	ENSG00000205420		0.587	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0	103	0	C	NM_005554		52886494	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	50.00	83	83	SNP	1.000	T	T	52886494	C	T	52886494	3	4	51	1	0	0	0	0	1	0	0	0	8507	652	23	1	1251	1	KRT6A	12	52886494	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1162891	52886494	80965401	181	12262											
NCKAP1L	3071	genome.wustl.edu	37	chr12	54925986	54925986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccatttcttatgggTcccattgagtgcttgaagga	8	13	10	10	0	1	2	0	2	1	0	2	3	2	3	2	2	2	1	2	2	2	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:54925986T>C	ENST00000293373.6	+	26	2893	c.2814T>C	c.(2812-2814)ggT>ggC	p.G938G	NCKAP1L_ENST00000545638.2_Silent_p.G888G	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	938					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCTTATGGGTCCCATTGAGT	0.413																																																	0													125	108	114					12																	54925986		2203	4300	6503	SO:0001819	synonymous_variant	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2814T>C	12.37:g.54925986T>C			B4DUT5|Q52LW0	Silent	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.G938	ENST00000293373.6	37	c.2814	CCDS31813.1	12																																																																																			NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.413	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	-	0	48	0	T	NM_005337		54925986	1	tier1	-	no_errors	ENST00000293373	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.964	C	C	54925986	T	C	54925986	2	2	51	1	0	0	0	0	0	0	0	1	10261	1654	58	4		4	NCKAP1L	12	54925986	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	2039492	54925986	78925909	182	12263											
PPP1R1A	5502	genome.wustl.edu	37	chr12	54975838	54975838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcgggactcctgggtttCtgtgctctcagcggccccct	2	11	14	14	2	2	0	1	0	2	0	4	1	3	1	3	4	2	2	3	4	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:54975838C>T	ENST00000257905.8	-	5	495	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	109			E -> G (in dbSNP:rs1249958). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8611507, ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TCCTGGGTTTCTGTGCTCTCA	0.597																																																	0													65	68	67					12																	54975838		1917	4124	6041	SO:0001583	missense	0			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.325G>A	12.37:g.54975838C>T	ENSP00000257905:p.Glu109Lys		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.E109K	ENST00000257905.8	37	c.325	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	C	7.464	0.645356	0.14451	.	.	ENSG00000135447	ENST00000257905	T	0.34667	1.35	5.28	4.39	0.52855	.	0.519085	0.18141	N	0.150407	T	0.17365	0.0417	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.21895	-1.0232	10	0.08837	T	0.75	.	10.1776	0.42948	0.0:0.9073:0.0:0.0927	.	109	Q13522	PPR1A_HUMAN	K	109	ENSP00000257905:E109K	ENSP00000257905:E109K	E	-	1	0	PPP1R1A	53262105	0.131000	0.22433	0.978000	0.43139	0.120000	0.20174	1.789000	0.38724	1.365000	0.46057	0.655000	0.94253	GAA	PPP1R1A	-	pfam_PPI_1DARPP-32	ENSG00000135447		0.597	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1		0	24	0	C	NM_006741		54975838	-1			no_errors	ENST00000257905	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.149	T	T	54975838	C	T	54975838	3	4	51	1	0	0	0	0	1	0	0	0	12409	922	32	3	202	3	PPP1R1A	12	54975838	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	49852	54975838	78876057	183	12264											
LRP1	4035	genome.wustl.edu	37	chr12	57577916	57577916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcatcgaggtcgcccGgctcaatggctccttccgct	5	11	11	14	4	2	1	2	1	0	0	6	2	4	1	3	3	0	3	3	3	1	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:57577916G>A	ENST00000243077.3	+	37	6444	c.5978G>A	c.(5977-5979)cGg>cAg	p.R1993Q		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1993					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGGTCGCCCGGCTCAATGGC	0.602																																																	0													77	59	65					12																	57577916		2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.5978G>A	12.37:g.57577916G>A	ENSP00000243077:p.Arg1993Gln		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R1993Q	ENST00000243077.3	37	c.5978	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.928617	0.97116	.	.	ENSG00000123384	ENST00000243077	D	0.88586	-2.4	4.84	4.84	0.62591	Six-bladed beta-propeller, TolB-like (1);	0.074719	0.47093	D	0.000250	D	0.93458	0.7913	M	0.66506	2.035	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.93308	0.6682	10	0.49607	T	0.09	.	16.9352	0.86201	0.0:0.0:1.0:0.0	.	1993	Q07954	LRP1_HUMAN	Q	1993	ENSP00000243077:R1993Q	ENSP00000243077:R1993Q	R	+	2	0	LRP1	55864183	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.657000	0.98554	2.532000	0.85374	0.555000	0.69702	CGG	LRP1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0	22	0	G	NM_002332		57577916	1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	A	A	57577916	G	A	57577916	3	1	51	1	0	0	0	0	1	0	0	0	8986	1116	39	1	6124	1	LRP1	12	57577916	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	2602078	57577916	76273979	184	12265											
PTPRR	5801	genome.wustl.edu	37	chr12	71092074	71092074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcttatagcgatttttaGttccatgacgcggaatatca	10	15	9	7	3	2	1	1	1	1	0	3	3	3	2	1	2	1	1	1	2	5	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:71092074G>T	ENST00000283228.2	-	8	1702	c.1250C>A	c.(1249-1251)aCt>aAt	p.T417N	PTPRR_ENST00000549308.1_Missense_Mutation_p.T172N|PTPRR_ENST00000440835.2_Missense_Mutation_p.T172N|PTPRR_ENST00000378778.1_Missense_Mutation_p.T211N|PTPRR_ENST00000342084.4_Missense_Mutation_p.T305N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	417	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCGATTTTTAGTTCCATGACG	0.358																																																	0													85	86	86					12																	71092074		2202	4300	6502	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1250C>A	12.37:g.71092074G>T	ENSP00000283228:p.Thr417Asn		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T417N	ENST00000283228.2	37	c.1250	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081231	0.76528	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.79	5.79	0.91817	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.115206	0.38436	N	0.001696	T	0.42810	0.1219	N	0.25060	0.705	0.80722	D	1	D;D;D;D	0.76494	0.963;0.999;0.999;0.999	P;D;D;D	0.68353	0.779;0.928;0.934;0.957	T	0.12578	-1.0542	10	0.30078	T	0.28	-19.3454	20.0341	0.97551	0.0:0.0:1.0:0.0	.	266;305;211;417	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	N	172;417;211;305;172;172	ENSP00000391750:T172N;ENSP00000283228:T417N;ENSP00000368054:T211N;ENSP00000339605:T305N;ENSP00000446943:T172N;ENSP00000449616:T172N	ENSP00000283228:T417N	T	-	2	0	PTPRR	69378341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.454000	0.60068	2.753000	0.94483	0.555000	0.69702	ACT	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153233		0.358	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1		0	43	0	G	NM_002849		71092074	-1			no_errors	ENST00000283228	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	71092074	G	T	71092074	3	4	51	1	0	0	0	0	1	0	0	0	12855	1029	36	3	751	3	PTPRR	12	71092074	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	13514158	71092074	62759821	185	12266											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85492714	85492714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ataacagcatttcaactgtgGaagcattttcttcatactgg	12	14	7	8	0	3	0	2	0	1	0	3	1	3	1	0	2	5	2	0	2	4	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:85492714G>A	ENST00000393217.2	+	13	3212	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1051										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTCAACTGTGGAAGCATTTTC	0.303																																																	0													93	95	94					12																	85492714		2202	4290	6492	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3151G>A	12.37:g.85492714G>A	ENSP00000376910:p.Glu1051Lys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.E1051K	ENST00000393217.2	37	c.3151	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235634	0.79800	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.25579	1.79	5.4	5.4	0.78164	.	0.634090	0.15424	N	0.263063	T	0.32763	0.0840	L	0.46670	1.46	0.29422	N	0.860483	D;D	0.59767	0.986;0.961	P;P	0.49637	0.541;0.617	T	0.19095	-1.0316	10	0.62326	D	0.03	.	12.9476	0.58382	0.0847:0.0:0.9153:0.0	.	1051;1026	Q96JM4;C9JI57	LRIQ1_HUMAN;.	K	1051;1026;1051	ENSP00000376910:E1051K	ENSP00000256007:E1051K	E	+	1	0	LRRIQ1	84016845	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.182000	0.42556	2.521000	0.84997	0.585000	0.79938	GAA	LRRIQ1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133640		0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	28	0	G	NM_032165		85492714	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	85492714	G	A	85492714	3	1	51	1	0	0	0	0	1	0	0	0	9064	1175	41	3	3197	3	LRRIQ1	12	85492714	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	14400640	85492714	48359181	186	12267											
MLEC	9761	genome.wustl.edu	37	chr12	121131925	121131925	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgaaactgccaatcctGcgttccaaccctgaggacca	11	7	9	14	1	0	2	0	2	0	0	2	3	2	3	5	2	4	2	5	2	3	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:121131925G>T	ENST00000228506.3	+	2	695	c.267G>T	c.(265-267)ctG>ctT	p.L89L	MLEC_ENST00000412616.2_Silent_p.L89L	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	89					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TGCCAATCCTGCGTTCCAACC	0.498																																																	0													93	78	83					12																	121131925		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	613802	"KIAA0152"	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.267G>T	12.37:g.121131925G>T				Silent	SNP	pfam_Malectin	p.L89	ENST00000228506.3	37	c.267	CCDS9206.1	12																																																																																			MLEC	-	pfam_Malectin	ENSG00000110917		0.498	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLEC	HGNC	protein_coding	OTTHUMT00000402781.2	-	0	59	0	G	NM_014730		121131925	1	tier1	-	no_errors	ENST00000228506	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	121131925	G	T	121131925	2	4	51	1	0	0	0	0	0	0	0	1	9651	1306	46	3		3	MLEC	12	121131925	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	35639211	121131925	12719970	187	12268											
RIMBP2	23504	genome.wustl.edu	37	chr12	130890731	130890731	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttacataataaaatccatCttcatcaatttcaccaaaaa	19	12	0	10	0	4	0	3	0	1	0	5	0	5	0	2	0	1	0	2	0	7	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr12:130890731C>G	ENST00000261655.4	-	17	3146	c.2983G>C	c.(2983-2985)Gat>Cat	p.D995H		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	995	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAAAATCCATCTTCATCAATT	0.289																																																	0													54	57	56					12																	130890731		2203	4298	6501	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2983G>C	12.37:g.130890731C>G	ENSP00000261655:p.Asp995His		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.D995H	ENST00000261655.4	37	c.2983	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436389	0.83885	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.57107	0.42;0.42	5.26	5.26	0.73747	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81671	-0.0827	10	0.87932	D	0	-18.5549	19.2114	0.93757	0.0:1.0:0.0:0.0	.	995	O15034	RIMB2_HUMAN	H	995;132	ENSP00000261655:D995H;ENSP00000439030:D132H	ENSP00000261655:D995H	D	-	1	0	RIMBP2	129456684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.702000	0.84576	2.616000	0.88540	0.563000	0.77884	GAT	RIMBP2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.289	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	37	0	C	NM_015347		130890731	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	G	G	130890731	C	G	130890731	3	3	51	1	0	0	0	0	1	0	0	0	13408	913	32	5	187	5	RIMBP2	12	130890731	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	9758806	130890731	2961164	188	12269											
SACS	26278	genome.wustl.edu	37	chr13	23906779	23906779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagttattgattaccttatCaagaggaggatccaggttaa	13	12	10	6	0	1	2	1	1	0	1	2	4	2	4	2	3	1	3	2	3	5	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr13:23906779C>G	ENST00000382292.3	-	9	11509	c.11236G>C	c.(11236-11238)Gat>Cat	p.D3746H	SACS_ENST00000382298.3_Missense_Mutation_p.D3746H|SACS_ENST00000402364.1_Missense_Mutation_p.D2996H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3746					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATTACCTTATCAAGAGGAGGA	0.353																																																	0													137	114	122					13																	23906779		2203	4299	6502	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11236G>C	13.37:g.23906779C>G	ENSP00000371729:p.Asp3746His		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.D3746H	ENST00000382292.3	37	c.11236	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003189	0.74932	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88741	-2.28;-2.42;-2.28	5.58	5.58	0.84498	.	0.103719	0.64402	D	0.000005	D	0.87330	0.6150	L	0.27053	0.805	0.49130	D	0.999753	P	0.45283	0.855	P	0.46975	0.533	D	0.88882	0.3340	10	0.87932	D	0	.	19.5659	0.95393	0.0:1.0:0.0:0.0	.	3746	Q9NZJ4	SACS_HUMAN	H	3746;2996;3746	ENSP00000371729:D3746H;ENSP00000385844:D2996H;ENSP00000371735:D3746H	ENSP00000371729:D3746H	D	-	1	0	SACS	22804779	1.000000	0.71417	0.998000	0.56505	0.387000	0.30353	7.818000	0.86416	2.619000	0.88677	0.563000	0.77884	GAT	SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	75	0	C	NM_014363		23906779	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	17.07	136	28	SNP	1.000	G	G	23906779	C	G	23906779	3	3	51	1	0	0	0	0	1	0	0	0	13849	826	29	5	2507	5	SACS	13	23906779	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09		23906779	91263099	189	12270											
POSTN	10631	genome.wustl.edu	37	chr13	38159038	38159038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagactcagaacactggagaGtatttaagatgtggtacttc	13	12	10	6	0	1	4	1	0	0	4	2	5	1	4	0	2	2	2	0	2	5	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr13:38159038G>T	ENST00000379747.4	-	8	1040	c.923C>A	c.(922-924)aCt>aAt	p.T308N	POSTN_ENST00000541481.1_Missense_Mutation_p.T308N|POSTN_ENST00000541179.1_Missense_Mutation_p.T308N|POSTN_ENST00000379743.4_Missense_Mutation_p.T308N|POSTN_ENST00000379749.4_Missense_Mutation_p.T308N|POSTN_ENST00000379742.4_Missense_Mutation_p.T308N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	308	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACACTGGAGAGTATTTAAGAT	0.388																																																	0													106	100	102					13																	38159038		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.923C>A	13.37:g.38159038G>T	ENSP00000369071:p.Thr308Asn		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.T308N	ENST00000379747.4	37	c.923	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	G	13.74	2.325857	0.41197	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	5.41	5.41	0.78517	FAS1 domain (5);	0.050337	0.85682	D	0.000000	D	0.84474	0.5480	N	0.03608	-0.345	0.36010	D	0.837994	P;P;P;P;P;B;P	0.47762	0.863;0.734;0.741;0.835;0.9;0.036;0.741	P;P;P;P;P;B;P	0.49799	0.622;0.487;0.507;0.487;0.487;0.01;0.507	D	0.85542	0.1216	10	0.18710	T	0.47	.	19.2193	0.93790	0.0:0.0:1.0:0.0	.	308;308;308;308;308;308;308	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	N	308;308;308;308;308;308;225	ENSP00000437959:T308N;ENSP00000369073:T308N;ENSP00000369071:T308N;ENSP00000369067:T308N;ENSP00000369066:T308N;ENSP00000437953:T308N	ENSP00000369066:T308N	T	-	2	0	POSTN	37057038	1.000000	0.71417	0.623000	0.29173	0.882000	0.50991	4.441000	0.59981	2.524000	0.85096	0.655000	0.94253	ACT	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.388	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	57	0	G	NM_006475		38159038	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.820	T	T	38159038	G	T	38159038	3	4	51	1	0	0	0	0	1	0	0	0	12298	1029	36	3	1651	3	POSTN	13	38159038	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	14252259	38159038	77010840	190	12271											
OXGR1	27199	genome.wustl.edu	37	chr13	97639710	97639710	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttacacatgaaatctcCaaagatccagttttcgccac	15	10	4	12	1	1	2	0	1	1	1	4	2	2	2	3	0	2	1	3	0	4	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr13:97639710C>A	ENST00000298440.1	-	4	547	c.304G>T	c.(304-306)Gga>Tga	p.G102*	OXGR1_ENST00000543457.1_Nonsense_Mutation_p.G102*	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	102					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			ATGAAATCTCCAAAGATCCAG	0.473																																																	0													74	67	70					13																	97639710		2203	4300	6503	SO:0001587	stop_gained	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.304G>T	13.37:g.97639710C>A	ENSP00000298440:p.Gly102*		Q5T5A7|Q86TL1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G102*	ENST00000298440.1	37	c.304	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.565112	0.97667	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.5376	0.95260	0.0:1.0:0.0:0.0	.	.	.	.	X	102	.	ENSP00000298440:G102X	G	-	1	0	OXGR1	96437711	1.000000	0.71417	0.983000	0.44433	0.962000	0.63368	6.048000	0.71046	2.620000	0.88729	0.655000	0.94253	GGA	OXGR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165621		0.473	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	-	0	41	0	C	NM_080818		97639710	-1	tier1	-	no_errors	ENST00000298440	ensembl	human	known	74_37	nonsense	72.55	14	37	SNP	1.000	A	A	97639710	C	A	97639710	4	1	51	1	0	0	0	0	0	1	0	0	11371	603	21	3	713	3	OXGR1	13	97639710	Nonsense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	59480672	97639710	17530168	191	12272											
MGAT2	4247	genome.wustl.edu	37	chr14	50089073	50089073	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcttccaaaattctggAaagtgctggttcctcaaatt	10	15	7	9	0	3	0	1	0	2	0	5	1	5	1	2	2	1	2	2	2	4	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr14:50089073A>C	ENST00000305386.2	+	1	1585	c.1087A>C	c.(1087-1089)Aaa>Caa	p.K363Q	RP11-649E7.5_ENST00000555043.1_RNA|RPL36AL_ENST00000298289.6_5'Flank	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	363					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AAAATTCTGGAAAGTGCTGGT	0.423																																																	0													125	122	123					14																	50089073		2203	4300	6503	SO:0001583	missense	0			U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.1087A>C	14.37:g.50089073A>C	ENSP00000307423:p.Lys363Gln		B3KPC5|B3KQM0	Missense_Mutation	SNP	pfam_GlcNAc_II	p.K363Q	ENST00000305386.2	37	c.1087	CCDS9690.1	14	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568956	0.28003	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	D	0.86497	-2.13	5.61	4.47	0.54385	.	0.049551	0.85682	D	0.000000	D	0.86104	0.5853	M	0.77820	2.39	0.38350	D	0.94432	B	0.16166	0.016	B	0.28638	0.092	T	0.81072	-0.1098	10	0.25751	T	0.34	-5.2631	9.2605	0.37610	0.8555:0.0:0.1445:0.0	.	363	Q10469	MGAT2_HUMAN	Q	363;369	ENSP00000307423:K363Q	ENSP00000307423:K363Q	K	+	1	0	MGAT2	49158823	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.174000	0.77620	0.977000	0.38444	0.454000	0.30748	AAA	MGAT2	-	pfam_GlcNAc_II	ENSG00000168282		0.423	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT2	HGNC	protein_coding	OTTHUMT00000276807.1	-	0	27	0	A	NM_002408		50089073	1	tier1	-	no_errors	ENST00000305386	ensembl	human	known	74_37	missense	37.04	17	10	SNP	1.000	C	C	50089073	A	C	50089073	3	2	51	1	0	0	0	0	1	0	0	0	9581	247	9	4	1089	4	MGAT2	14	50089073	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09		50089073	57260467	192	12273											
ARF6	382	genome.wustl.edu	37	chr14	50360743	50360743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgccgaccgcgaccgcatcGatgaggctcgccaggagctg	7	4	15	15	7	0	1	0	1	0	0	2	5	0	2	4	2	1	3	4	2	0	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr14:50360743G>A	ENST00000298316.5	+	2	836	c.289G>A	c.(289-291)Gat>Aat	p.D97N		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	97					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CGACCGCATCGATGAGGCTCG	0.607																																																	0													47	44	45					14																	50360743		2203	4300	6503	SO:0001583	missense	0				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"ADP-ribosylation factors"	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.289G>A	14.37:g.50360743G>A	ENSP00000298316:p.Asp97Asn		P26438|Q6FGZ2	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D97N	ENST00000298316.5	37	c.289	CCDS9695.1	14	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108728	0.37242	.	.	ENSG00000165527	ENST00000298316	T	0.63580	-0.05	5.16	3.33	0.38152	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	L	0.35249	1.045	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.25502	-1.0130	10	0.07175	T	0.84	-12.2593	11.6215	0.51121	0.1331:0.0:0.8669:0.0	.	97	P62330	ARF6_HUMAN	N	97	ENSP00000298316:D97N	ENSP00000298316:D97N	D	+	1	0	ARF6	49430493	1.000000	0.71417	0.997000	0.53966	0.727000	0.41649	9.835000	0.99442	0.573000	0.29400	0.491000	0.48974	GAT	ARF6	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom	ENSG00000165527		0.607	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF6	HGNC	protein_coding	OTTHUMT00000276883.1		0	17	0	G	NM_001663		50360743	1			no_errors	ENST00000298316	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	A	A	50360743	G	A	50360743	3	1	51	1	0	0	0	0	1	0	0	0	848	1058	37	1	291	1	ARF6	14	50360743	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	271670	50360743	56988797	193	12274											
SYNE2	23224	genome.wustl.edu	37	chr14	64428292	64428292	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcatgacctatgtggcAcagtttctgcagtattccaa	10	13	7	11	0	2	1	1	1	1	0	4	1	4	1	3	1	1	4	3	1	3	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr14:64428292A>G	ENST00000344113.4	+	9	1049	c.837A>G	c.(835-837)gcA>gcG	p.A279A	SYNE2_ENST00000554584.1_Silent_p.A279A|SYNE2_ENST00000358025.3_Silent_p.A279A|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	279	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTATGTGGCACAGTTTCTGC	0.403																																																	0													163	148	152					14																	64428292		1960	4158	6118	SO:0001819	synonymous_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.837A>G	14.37:g.64428292A>G			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A279	ENST00000344113.4	37	c.837	CCDS41963.1	14																																																																																			SYNE2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000054654		0.403	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	87	0	A	NM_182914		64428292	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	silent	27.91	62	24	SNP	0.928	G	G	64428292	A	G	64428292	2	3	51	1	0	0	0	0	0	0	0	1	15493	146	6	4		4	SYNE2	14	64428292	Silent	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	14067549	64428292	42921248	194	12275											
SPTB	6710	genome.wustl.edu	37	chr14	65253572	65253572	+	Frame_Shift_Del	DEL	T	T	-																															tgccacagctcctccaagtgTttttgccgctgaccaatatc																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr14:65253572delT	ENST00000389721.5	-	15	3143	c.3111delA	c.(3109-3111)aaafs	p.K1037fs	SPTB_ENST00000542895.1_Frame_Shift_Del_p.K1037fs|SPTB_ENST00000389720.3_Frame_Shift_Del_p.K1037fs|SPTB_ENST00000556626.1_Frame_Shift_Del_p.K1037fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.K1037fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1037					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCCAAGTGTTTTTGCCGCT	0.632																																																	0													71	75	74					14																	65253572		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3111delA	14.37:g.65253572delT	ENSP00000374371:p.Lys1037fs		Q15510|Q15519	Frame_Shift_Del	DEL	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.K1037fs	ENST00000389721.5	37	c.3111	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.632	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1		0	19	0	T			65253572	-1	tier1		no_errors	ENST00000389722	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.000	-	-	65253572	T	-	65253572	7	5	51	1	0	1	0	1	0	0	0	0	15165	1722	60	0	4028	0	SPTB	14	65253572	Frame_Shift_Del	DEL	T	TCGA-L5-A43I-01A-11D-A247-09	825280	65253572	42095968	195	12276											
C14orf4	64207	genome.wustl.edu	37	chr14	77493050	77493050	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccactcctcggcgcggttGcgcaggctctcgctcagctc	3	8	12	18	5	2	0	1	0	1	0	6	0	3	0	2	3	2	5	2	3	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr14:77493050G>T	ENST00000238647.3	-	1	1984	c.1086C>A	c.(1084-1086)cgC>cgA	p.R362R		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	362					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGGCGCGGTTGCGCAGGCTCT	0.672																																																	0													32	29	30					14																	77493050		2200	4298	6498	SO:0001819	synonymous_variant	0			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1086C>A	14.37:g.77493050G>T			Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.R362	ENST00000238647.3	37	c.1086	CCDS9854.1	14																																																																																			IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000119669		0.672	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1		0	10	0	G	NM_024496		77493050	-1			no_errors	ENST00000238647	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.996	T	T	77493050	G	T	77493050	2	4	51	1	0	0	0	0	0	0	0	1	1778	1306	46	3		3	C14orf4	14	77493050	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	12239478	77493050	29856490	196	12277											
NRXN3	9369	genome.wustl.edu	37	chr14	80164036	80164036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaaaggacaaaggacGcctcttccaaggccaactct	12	7	11	11	1	2	0	0	0	2	0	3	3	3	3	3	5	1	0	3	5	4	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr14:80164036G>T	ENST00000557594.1	+	4	1618	c.665G>T	c.(664-666)cGc>cTc	p.R222L	NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Missense_Mutation_p.R854L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.R252L|NRXN3_ENST00000281127.7_Missense_Mutation_p.R222L|NRXN3_ENST00000335750.5_Missense_Mutation_p.R854L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	222	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.R252H(1)|p.R854H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACAAAGGACGCCTCTTCCAA	0.453																																																	2	Substitution - Missense(2)	large_intestine(2)											81	78	79					14																	80164036		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.665G>T	14.37:g.80164036G>T	ENSP00000451672:p.Arg222Leu		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1246L	ENST00000557594.1	37	c.3737		14	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247385	0.80024	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.76	5.76	0.90799	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	M	0.84846	2.72	0.58432	D	0.999995	D;D;D;B	0.71674	0.998;0.98;0.972;0.282	D;P;P;B	0.79108	0.992;0.893;0.9;0.144	D	0.89657	0.3874	9	.	.	.	.	19.9514	0.97200	0.0:0.0:1.0:0.0	.	252;222;222;854	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	L	1227;1246;854;854;222;222;252	ENSP00000451648:R854L;ENSP00000338349:R854L;ENSP00000451672:R222L;ENSP00000281127:R222L;ENSP00000394426:R252L	.	R	+	2	0	NRXN3	79233789	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.828000	0.75308	2.718000	0.92993	0.557000	0.71058	CGC	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.453	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0	30	0	G	NM_001105250		80164036	1	tier1	-	no_errors	ENST00000554738	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	T	T	80164036	G	T	80164036	3	4	51	1	0	0	0	0	1	0	0	0	10706	1087	38	2	2956	2	NRXN3	14	80164036	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	2670986	80164036	27185504	197	12278											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890248	23890248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgggtggccttgccggagCggcgtggcggctcgacggag	3	6	20	12	7	0	0	0	0	0	0	2	3	1	2	3	7	2	1	3	7	0	1	rs368034669		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:23890248C>T	ENST00000532292.1	-	1	927	c.833G>A	c.(832-834)cGc>cAc	p.R278H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	161					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTTGCCGGAGCGGCGTGGCGG	0.657																																																	0								C	HIS/ARG	0,4376		0,0,2188	39	46	44		2642	2.3	0	15		44	1,8581		0,1,4290	no	missense	MAGEL2	NM_019066.4	29	0,1,6478	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	881/1250	23890248	1,12957	2188	4291	6479	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.833G>A	15.37:g.23890248C>T	ENSP00000433433:p.Arg278His			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R278H	ENST00000532292.1	37	c.833		15	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855836	0.32791	0.0	1.17E-4	ENSG00000254585	ENST00000532292	.	.	.	4.22	2.35	0.29111	.	.	.	.	.	T	0.22742	0.0549	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.20107	-1.0285	5	.	.	.	.	4.4156	0.11454	0.0:0.6117:0.1869:0.2014	.	.	.	.	T	310	.	.	A	-	1	0	MAGEL2	21441341	0.002000	0.14202	0.035000	0.18076	0.342000	0.28953	0.342000	0.19926	0.734000	0.32515	0.655000	0.94253	GCT	MAGEL2	-	NULL	ENSG00000254585		0.657	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	61	0	C	NM_019066		23890248	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	47.37	50	45	SNP	0.011	T	T	23890248	C	T	23890248	3	4	51	1	0	0	0	0	1	0	0	0	9227	768	27	1	1111	1	MAGEL2	15	23890248	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09		23890248	78641144	198	12279											
TYRO3	7301	genome.wustl.edu	37	chr15	41862356	41862356	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaagagacgcggtttgggTaaggggatggggatgtggag	10	7	22	2	2	0	1	0	0	0	1	0	6	0	5	0	8	0	2	0	8	2	2	rs149022093		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:41862356T>C	ENST00000263798.3	+	10	1606		c.e10+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCGGTTTGGGTAAGGGGATGG	0.567																																																	0													76	75	75					15																	41862356		2203	4300	6503	SO:0001630	splice_region_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1382+2T>C	15.37:g.41862356T>C			O14953|Q86VR3	Splice_Site	SNP	-	e10+2	ENST00000263798.3	37	c.1382+2	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181954	0.78677	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3401	0.74290	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39649648	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.789000	0.75110	2.208000	0.71279	0.533000	0.62120	.	TYRO3	-	-	ENSG00000092445		0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2		0	28	0	T		Intron	41862356	1			no_errors	ENST00000263798	ensembl	human	known	74_37	splice_site	10.20	44	5	SNP	1.000	C	C	41862356	T	C	41862356	5	2	51	1	0	0	0	0	0	0	1	0	16863	1652	57	4	1422	4	TYRO3	15	41862356	Splice_Site	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	17972108	41862356	60669036	199	12280											
TYRO3	7301	genome.wustl.edu	37	chr15	41865875	41865875	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacctcgattctgtcccAgtgggcgttcggggtgacca	6	9	12	14	3	1	1	0	1	1	0	4	2	2	1	4	3	1	1	4	3	1	2	rs77680822		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:41865875A>T	ENST00000263798.3	+	18	2369		c.e18-1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ATTCTGTCCCAGTGGGCGTTC	0.582																																																	0													81	75	77					15																	41865875		2203	4300	6503	SO:0001630	splice_region_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2146-1A>T	15.37:g.41865875A>T			O14953|Q86VR3	Splice_Site	SNP	-	e18-2	ENST00000263798.3	37	c.2146-2	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863171	0.71949	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4348	0.75137	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39653167	1.000000	0.71417	0.957000	0.39632	0.794000	0.44872	9.339000	0.96797	2.048000	0.60808	0.533000	0.62120	.	TYRO3	-	-	ENSG00000092445		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2		0	31	0	A		Intron	41865875	1			no_errors	ENST00000263798	ensembl	human	known	74_37	splice_site	14.63	35	6	SNP	1.000	T	T	41865875	A	T	41865875	5	4	51	1	0	0	0	0	0	0	1	0	16863	202	7	5	2214	5	TYRO3	15	41865875	Splice_Site	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	3519	41865875	60665517	200	12281											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42133719	42133719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatgactcaggcccGggagctctcctgcttgcacg	5	11	11	14	2	4	1	2	1	2	0	5	2	4	2	2	2	3	3	2	2	0	2	rs372615666		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:42133719G>A	ENST00000452633.1	+	8	792	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R378Q|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R378Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R378Q|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R147Q			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		ACTCAGGCCCGGGAGCTCTCC	0.612																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG	1,4405		0,1,2202	56	59	58		440,1133,1133	2.8	1	15		58	0,8600		0,0,4300	no	missense,missense,missense	JMJD7-PLA2G4B,PLA2G4B	NM_001114633.1,NM_001198588.1,NM_005090.3	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	147/782,378/894,378/1013	42133719	1,13005	2203	4300	6503	SO:0001583	missense	0			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.440G>A	15.37:g.42133719G>A	ENSP00000396045:p.Arg147Gln		B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.R378Q	ENST00000452633.1	37	c.1133	CCDS45241.1	15	.	.	.	.	.	.	.	.	.	.	.	16.17	3.046705	0.55110	2.27E-4	0.0	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.01705	5.01;4.68;4.93;4.93	4.85	2.78	0.32641	.	0.138758	0.32548	N	0.005950	T	0.02571	0.0078	M	0.78049	2.395	0.29417	N	0.860799	B;B;B	0.31548	0.328;0.028;0.005	B;B;B	0.17433	0.018;0.005;0.002	T	0.14811	-1.0459	10	0.62326	D	0.03	-7.5237	6.5343	0.22344	0.1003:0.1817:0.718:0.0	.	147;378;378	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	Q	378;378;147;147	ENSP00000371886:R378Q;ENSP00000342785:R378Q;ENSP00000416610:R147Q;ENSP00000396045:R147Q	ENSP00000342785:R378Q	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39921011	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.442000	0.44873	1.155000	0.42497	0.591000	0.81541	CGG	JMJD7-PLA2G4B	-	NULL	ENSG00000168970		0.612	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1	-	0	42	0	G	NM_001114633		42133719	1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	42133719	G	A	42133719	3	1	51	1	0	0	0	0	1	0	0	0	7982	1116	39	1	1179	1	JMJD7-PLA2G4B	15	42133719	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	267844	42133719	60397673	201	12282											
WDR72	256764	genome.wustl.edu	37	chr15	53907630	53907630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtatgtcttacctgccaaCtctacatgccaattctaaag	12	12	6	11	0	3	0	0	0	3	0	3	0	3	0	3	1	5	1	3	1	7	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:53907630C>T	ENST00000396328.1	-	15	3012	c.2773G>A	c.(2773-2775)Gtt>Att	p.V925I	WDR72_ENST00000360509.5_Missense_Mutation_p.V925I|WDR72_ENST00000559418.1_Missense_Mutation_p.V935I|WDR72_ENST00000557913.1_Missense_Mutation_p.V922I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	925										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TACCTGCCAACTCTACATGCC	0.294																																																	0													22	24	24					15																	53907630		2172	4279	6451	SO:0001583	missense	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2773G>A	15.37:g.53907630C>T	ENSP00000379619:p.Val925Ile		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V925I	ENST00000396328.1	37	c.2773	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.370159	0.00209	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.32753	1.44;1.44	5.63	-1.58	0.08479	.	1.349760	0.04531	N	0.386348	T	0.10252	0.0251	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.36615	T	0.2	.	1.6537	0.02777	0.1236:0.2322:0.1277:0.5165	.	925	Q3MJ13	WDR72_HUMAN	I	925	ENSP00000379619:V925I;ENSP00000353699:V925I	ENSP00000353699:V925I	V	-	1	0	WDR72	51694922	0.000000	0.05858	0.002000	0.10522	0.091000	0.18340	0.124000	0.15728	-0.195000	0.10382	-0.345000	0.07892	GTT	WDR72	-	NULL	ENSG00000166415		0.294	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	-	0	29	0	C	NM_182758		53907630	-1	tier1	-	no_errors	ENST00000360509	ensembl	human	known	74_37	missense	47.50	21	19	SNP	0.000	T	T	53907630	C	T	53907630	3	4	51	1	0	0	0	0	1	0	0	0	17371	565	20	3	559	3	WDR72	15	53907630	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	11773911	53907630	48623762	202	12283											
BNC1	646	genome.wustl.edu	37	chr15	83932730	83932730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcaggctgttcctgaggtCtttgtcccggttatttctgt	3	18	11	9	1	3	1	1	1	2	0	5	1	5	1	2	3	0	4	2	3	1	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:83932730C>T	ENST00000345382.2	-	4	1358	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.D418N	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	425					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTCCTGAGGTCTTTGTCCCGG	0.567																																																	0													172	163	166					15																	83932730		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1273G>A	15.37:g.83932730C>T	ENSP00000307041:p.Asp425Asn		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D425N	ENST00000345382.2	37	c.1273	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901063	0.92035	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.60424	0.19	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.78201	0.4246	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80207	-0.1478	10	0.72032	D	0.01	-28.6606	19.4213	0.94723	0.0:1.0:0.0:0.0	.	418;425	F5GY04;Q01954	.;BNC1_HUMAN	N	425;418	ENSP00000307041:D425N	ENSP00000307041:D425N	D	-	1	0	BNC1	81723734	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.755000	0.85180	2.589000	0.87451	0.655000	0.94253	GAC	BNC1	-	NULL	ENSG00000169594		0.567	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0	24	0	C	NM_001717		83932730	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	T	T	83932730	C	T	83932730	3	4	51	1	0	0	0	0	1	0	0	0	1476	913	32	3	1719	3	BNC1	15	83932730	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	30025100	83932730	18598662	203	12284											
SH3GL3	6457	genome.wustl.edu	37	chr15	84286908	84286908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaaccaaggagaattaGgatttaaagaaggggacatc	19	6	11	5	0	0	3	0	0	0	3	1	6	0	5	1	4	1	0	1	4	8	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:84286908G>A	ENST00000427482.2	+	9	1219	c.913G>A	c.(913-915)Gga>Aga	p.G305R	SH3GL3_ENST00000434347.1_Missense_Mutation_p.G313R|SH3GL3_ENST00000324537.5_Missense_Mutation_p.G313R|SH3GL3_ENST00000535412.1_3'UTR|AC087738.1_ENST00000411248.1_RNA|SH3GL3_ENST00000564054.1_3'UTR	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	305	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGGAGAATTAGGATTTAAAGA	0.403																																																	0													100	95	97					15																	84286908		2203	4300	6503	SO:0001583	missense	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.913G>A	15.37:g.84286908G>A	ENSP00000391372:p.Gly305Arg		O43553|O43554	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain	p.G313R	ENST00000427482.2	37	c.937	CCDS10325.2	15	.	.	.	.	.	.	.	.	.	.	G	31	5.073801	0.94000	.	.	ENSG00000140600	ENST00000427482;ENST00000324537;ENST00000434347	T;T;T	0.30448	1.53;1.53;1.53	5.6	5.6	0.85130	Src homology-3 domain (5);	0.047375	0.85682	D	0.000000	T	0.48642	0.1511	L	0.39514	1.22	0.80722	D	1	D;P	0.71674	0.998;0.589	D;B	0.73380	0.98;0.226	T	0.39014	-0.9634	10	0.52906	T	0.07	-26.6357	18.6111	0.91285	0.0:0.0:1.0:0.0	.	305;313	Q99963;Q99963-3	SH3G3_HUMAN;.	R	305;313;313	ENSP00000391372:G305R;ENSP00000320092:G313R;ENSP00000397871:G313R	ENSP00000320092:G313R	G	+	1	0	SH3GL3	82077912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.300000	0.96151	2.628000	0.89032	0.655000	0.94253	GGA	SH3GL3	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000140600		0.403	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	HGNC	protein_coding	OTTHUMT00000347797.1	-	0	38	0	G	NM_003027		84286908	1	tier1	-	no_errors	ENST00000324537	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	A	A	84286908	G	A	84286908	3	1	51	1	0	0	0	0	1	0	0	0	14297	1001	35	3	947	3	SH3GL3	15	84286908	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	354178	84286908	18244484	204	12285											
FURIN	5045	genome.wustl.edu	37	chr15	91422672	91422672	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgattctcttcctggcAggtgacgactgacttgcggc	8	12	11	10	2	1	3	0	3	1	0	3	4	2	3	1	3	1	1	1	3	2	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr15:91422672A>C	ENST00000268171.3	+	10	1332		c.e10-1			NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)						cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCTTCCTGGCAGGTGACGACT	0.622																																																	0													49	52	51					15																	91422672		2198	4298	6496	SO:0001630	splice_region_variant	0			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.1054-1A>C	15.37:g.91422672A>C			Q14336|Q6LBS3|Q9UCZ5	Splice_Site	SNP	-	e9-2	ENST00000268171.3	37	c.1054-2	CCDS10364.1	15	.	.	.	.	.	.	.	.	.	.	A	16.37	3.103748	0.56291	.	.	ENSG00000140564	ENST00000268171	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1734	0.48584	0.8467:0.1533:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FURIN	89223676	1.000000	0.71417	0.987000	0.45799	0.928000	0.56348	7.084000	0.76866	1.825000	0.53177	0.454000	0.30748	.	FURIN	-	-	ENSG00000140564		0.622	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	HGNC	protein_coding	OTTHUMT00000313492.1	-	0	22	0	A	NM_002569	Intron	91422672	1	tier1	-	no_errors	ENST00000268171	ensembl	human	known	74_37	splice_site	44.83	16	13	SNP	1.000	C	C	91422672	A	C	91422672	5	2	51	1	0	0	0	0	0	0	1	0	6123	202	7	4	1086	4	FURIN	15	91422672	Splice_Site	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	7135764	91422672	11108720	205	12286											
USP31	57478	genome.wustl.edu	37	chr16	23093862	23093862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagtgtgggcaacgccagGcatcatcgggggcaagctga	10	6	15	10	2	1	1	1	1	0	0	2	1	1	1	1	4	3	4	1	4	3	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr16:23093862G>T	ENST00000219689.7	-	12	1846	c.1847C>A	c.(1846-1848)gCc>gAc	p.A616D		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	267	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCAACGCCAGGCATCATCGGG	0.498																																																	0													82	71	75					16																	23093862		2197	4300	6497	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1847C>A	16.37:g.23093862G>T	ENSP00000219689:p.Ala616Asp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.A616D	ENST00000219689.7	37	c.1847	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452447	0.84209	.	.	ENSG00000103404	ENST00000219689	T	0.03094	4.05	4.9	3.94	0.45596	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00386	-1.1772	10	0.59425	D	0.04	-11.6957	12.3398	0.55087	0.0817:0.0:0.9183:0.0	.	616	Q70CQ4	UBP31_HUMAN	D	616	ENSP00000219689:A616D	ENSP00000219689:A616D	A	-	2	0	USP31	23001363	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.370000	0.97159	1.181000	0.42912	0.650000	0.86243	GCC	USP31	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000103404		0.498	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	-	0	32	0	G	NM_020718		23093862	-1	tier1	-	no_errors	ENST00000219689	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	T	T	23093862	G	T	23093862	3	4	51	1	0	0	0	0	1	0	0	0	17111	1203	42	3	2231	3	USP31	16	23093862	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		23093862	67260891	206	12287											
CHD9	80205	genome.wustl.edu	37	chr16	53341776	53341776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccactcccccaggtgccGgtgttaaagaagaacatgat	12	8	9	12	1	0	3	0	1	0	2	1	3	1	3	4	2	3	1	4	2	5	2	rs201884816		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr16:53341776G>A	ENST00000398510.3	+	32	7051	c.6964G>A	c.(6964-6966)Ggt>Agt	p.G2322S	CHD9_ENST00000447540.1_Missense_Mutation_p.G2323S|CHD9_ENST00000566029.1_Missense_Mutation_p.G2322S|CHD9_ENST00000564845.1_Missense_Mutation_p.G2322S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2322					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCCAGGTGCCGGTGTTAAAGA	0.453																																																	0								G	SER/GLY	0,3918		0,0,1959	41	41	41		6964	4.6	1	16		41	1,8315		0,1,4157	yes	missense	CHD9	NM_025134.4	56	0,1,6116	AA,AG,GG		0.012,0.0,0.0082	possibly-damaging	2322/2882	53341776	1,12233	1959	4158	6117	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6964G>A	16.37:g.53341776G>A	ENSP00000381522:p.Gly2322Ser		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G2322S	ENST00000398510.3	37	c.6964		16	.	.	.	.	.	.	.	.	.	.	G	5.569	0.289852	0.10567	0.0	1.2E-4	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.84800	-1.9;-1.81	5.58	4.6	0.57074	.	0.335070	0.25112	N	0.033047	T	0.64972	0.2647	N	0.05441	-0.05	0.09310	N	1	P;P;B;P;P	0.47191	0.539;0.825;0.011;0.825;0.891	B;B;B;B;B	0.40702	0.04;0.14;0.004;0.182;0.338	T	0.63189	-0.6693	10	0.02654	T	1	-4.1191	8.408	0.32627	0.0816:0.0:0.7668:0.1516	.	388;2322;2323;2322;2322	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	S	2323;2322;388	ENSP00000396345:G2323S;ENSP00000381522:G2322S	ENSP00000381522:G2322S	G	+	1	0	CHD9	51899277	1.000000	0.71417	0.962000	0.40283	0.939000	0.58152	3.350000	0.52224	1.416000	0.47057	0.557000	0.71058	GGT	CHD9	-	NULL	ENSG00000177200		0.453	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	-	0	32	0	G	NM_025134		53341776	1	tier1	rs201884816	no_errors	ENST00000398510	ensembl	human	known	74_37	missense	58.82	21	30	SNP	0.177	A	A	53341776	G	A	53341776	3	1	51	1	0	0	0	0	1	0	0	0	3339	1116	39	1	7090	1	CHD9	16	53341776	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	30247914	53341776	37012977	207	12288											
FUK	197258	genome.wustl.edu	37	chr16	70497528	70497528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcttctgaccctagaaCtggaagtgcggcagaagcgg	9	9	13	10	2	2	3	0	1	2	2	3	4	2	4	1	3	3	1	1	3	4	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr16:70497528C>T	ENST00000288078.6	+	3	317	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	FUK_ENST00000378912.2_Silent_p.L29L|FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.L29L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	29						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GACCCTAGAACTGGAAGTGCG	0.597																																																	0													70	76	74					16																	70497528		2003	4162	6165	SO:0001819	synonymous_variant	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.85C>T	16.37:g.70497528C>T			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.L29	ENST00000288078.6	37	c.85	CCDS10891.2	16																																																																																			FUK	-	NULL	ENSG00000157353		0.597	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	-	0	37	0	C	NM_145059		70497528	1	tier1	-	no_errors	ENST00000378912	ensembl	human	known	74_37	silent	22.73	34	10	SNP	1.000	T	T	70497528	C	T	70497528	2	4	51	1	0	0	0	0	0	0	0	1	6120	564	20	3		3	FUK	16	70497528	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	17155752	70497528	19857225	208	12289											
CHST5	23563	genome.wustl.edu	37	chr16	75563605	75563605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagcgcagcacggcccgCgggtcgcgcaccaggtgcac	6	2	17	16	7	0	0	0	0	0	0	1	1	0	1	2	4	3	4	2	4	0	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr16:75563605C>T	ENST00000336257.3	-	3	2072	c.678G>A	c.(676-678)ccG>ccA	p.P226P	CHST5_ENST00000541075.1_Silent_p.P232P|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	226					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACGGCCCGCGGGTCGCGCA	0.701																																																	0													28	35	32					16																	75563605		2190	4293	6483	SO:0001819	synonymous_variant	0			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.678G>A	16.37:g.75563605C>T			B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.P232	ENST00000336257.3	37	c.696	CCDS10919.1	16																																																																																			CHST5	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000135702		0.701	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	-	0	19	0	C	NM_012126		75563605	-1	tier1	-	no_errors	ENST00000541075	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.955	T	T	75563605	C	T	75563605	2	4	51	1	0	0	0	0	0	0	0	1	3414	755	27	1		1	CHST5	16	75563605	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	5066077	75563605	14791148	209	12290											
ZNF276	92822	genome.wustl.edu	37	chr16	89804219	89804219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actctcccctctcagaggtgCggaactatatctgtgacgaa	10	10	9	12	2	3	2	1	1	3	1	5	4	3	3	2	2	2	0	2	2	4	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr16:89804219C>T	ENST00000443381.2	+	10	1577	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	ZNF276_ENST00000446326.2_Missense_Mutation_p.R280W|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.R419W|ZNF276_ENST00000568064.1_Missense_Mutation_p.R402W	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCAGAGGTGCGGAACTATAT	0.552																																																	0													108	99	102					16																	89804219		2198	4300	6498	SO:0001583	missense	0			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"Zinc fingers, C2H2-type"	23330	protein-coding gene	gene with protein product	"centromere protein Z", "zinc finger, AD-type"	608460	"zinc finger protein 276 homolog (mouse)"	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1480C>T	16.37:g.89804219C>T	ENSP00000415836:p.Arg494Trp		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R494W	ENST00000443381.2	37	c.1480	CCDS45554.1	16	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659441	0.47467	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.78816	-1.21;2.3;2.3	5.62	4.66	0.58398	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.995;0.996	T	0.81132	-0.1072	10	0.87932	D	0	-37.0204	12.8268	0.57725	0.297:0.703:0.0:0.0	.	332;494;280;419	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	W	280;419;494	ENSP00000415999:R280W;ENSP00000289816:R419W;ENSP00000415836:R494W	ENSP00000289816:R419W	R	+	1	2	ZNF276	88331720	1.000000	0.71417	0.977000	0.42913	0.093000	0.18481	3.549000	0.53681	1.357000	0.45904	-0.324000	0.08512	CGG	ZNF276	-	pfscan_Znf_C2H2	ENSG00000158805		0.552	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF276	HGNC	protein_coding	OTTHUMT00000422517.1	-	0	62	0	C	NM_152287		89804219	1	tier1	-	no_errors	ENST00000443381	ensembl	human	known	74_37	missense	23.08	69	21	SNP	1.000	T	T	89804219	C	T	89804219	3	4	51	1	0	0	0	0	1	0	0	0	17859	759	27	1	1518	1	ZNF276	16	89804219	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	14240614	89804219	550534	210	12291											
FANCA	2175	genome.wustl.edu	37	chr16	89813023	89813023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaattaaggggcatttcGtctggcacttggccagtatg	10	12	11	8	1	2	0	1	0	1	0	3	0	2	0	1	4	0	3	1	4	4	4	rs142833057	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr16:89813023G>T	ENST00000389301.3	-	35	3512	c.3482C>A	c.(3481-3483)aCg>aAg	p.T1161K	FANCA_ENST00000568369.1_Missense_Mutation_p.T1161K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T1161M(2)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGGCATTTCGTCTGGCACTT	0.567			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	2	0.000399361	0	0	5008	,	,		19962	0.002		0	False		,,,				2504	0						yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	2	Substitution - Missense(2)	lung(1)|endometrium(1)											89	82	84					16																	89813023		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3482C>A	16.37:g.89813023G>T	ENSP00000373952:p.Thr1161Lys		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.T1161K	ENST00000389301.3	37	c.3482	CCDS32515.1	16	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	12.61	1.988834	0.35131	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.84873	-1.91	5.05	3.07	0.35406	.	0.413038	0.22913	N	0.054102	D	0.88647	0.6493	M	0.76002	2.32	0.48975	D	0.999732	B;D;D	0.64830	0.447;0.994;0.994	B;P;P	0.56216	0.267;0.794;0.794	D	0.87753	0.2593	10	0.87932	D	0	-9.444	10.0442	0.42177	0.0762:0.1373:0.7865:0.0	.	138;1161;1161	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	K	1161;138	ENSP00000373952:T1161K	ENSP00000306281:T138K	T	-	2	0	FANCA	88340524	0.679000	0.27596	0.134000	0.22075	0.002000	0.02628	1.510000	0.35790	0.525000	0.28522	-0.224000	0.12420	ACG	FANCA	-	NULL	ENSG00000187741		0.567	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1		0	35	0	G			89813023	-1			no_errors	ENST00000389301	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.643	T	T	89813023	G	T	89813023	3	4	51	1	0	0	0	0	1	0	0	0	5684	1145	40	2	921	2	FANCA	16	89813023	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	8804	89813023	541730	211	12292											
SPIRE2	84501	genome.wustl.edu	37	chr16	89925754	89925754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtggaggcccggctcccGagaccagggcaagtgctgct	6	7	16	12	2	0	1	0	0	0	1	1	3	1	2	3	4	2	4	3	4	1	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr16:89925754G>A	ENST00000378247.3	+	9	1497	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R485Q	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	485					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCGGCTCCCGAGACCAGGGC	0.697																																																	0													18	21	20					16																	89925754		2195	4295	6490	SO:0001583	missense	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1454G>A	16.37:g.89925754G>A	ENSP00000367494:p.Arg485Gln		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.R485Q	ENST00000378247.3	37	c.1454	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074074	0.36566	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.44881	0.91;0.91	5.19	-1.91	0.07641	.	1.380360	0.04041	N	0.303104	T	0.29556	0.0737	L	0.41710	1.295	0.21675	N	0.999597	B;B;B;B	0.15719	0.0;0.014;0.008;0.005	B;B;B;B	0.08055	0.0;0.001;0.001;0.003	T	0.17018	-1.0383	10	0.34782	T	0.22	-3.0556	1.7889	0.03047	0.2177:0.1755:0.4333:0.1734	.	352;485;437;485	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	Q	485	ENSP00000367494:R485Q;ENSP00000376782:R485Q	ENSP00000367494:R485Q	R	+	2	0	SPIRE2	88453255	0.000000	0.05858	0.191000	0.23289	0.044000	0.14063	-0.033000	0.12246	0.082000	0.17018	-0.474000	0.04947	CGA	SPIRE2	-	NULL	ENSG00000204991		0.697	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	-	0	25	0	G	XM_047462		89925754	1	tier1	-	no_errors	ENST00000378247	ensembl	human	known	74_37	missense	18.31	57	13	SNP	0.326	A	A	89925754	G	A	89925754	3	1	51	1	0	0	0	0	1	0	0	0	15119	1058	37	1	1488	1	SPIRE2	16	89925754	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	112731	89925754	428999	212	12293											
RTN4RL1	146760	genome.wustl.edu	37	chr17	1840387	1840387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaactccagggcccccagCggggccaggcactcaccctg	8	3	13	17	1	1	0	1	0	0	0	2	1	2	1	5	5	2	1	5	5	1	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:1840387C>T	ENST00000331238.6	-	2	1208	c.729G>A	c.(727-729)ccG>ccA	p.P243P		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGGCCCCCAGCGGGGCCAGGC	0.667																																					GBM(68;949 1139 14865 32798 38342)												0													19	23	22					17																	1840387		1949	4142	6091	SO:0001819	synonymous_variant	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.729G>A	17.37:g.1840387C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P243	ENST00000331238.6	37	c.729	CCDS45569.1	17																																																																																			RTN4RL1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185924		0.667	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0	83	0	C	NM_178568		1840387	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	silent	20.73	65	17	SNP	0.879	T	T	1840387	C	T	1840387	2	4	51	1	0	0	0	0	0	0	0	1	13776	755	27	1		1	RTN4RL1	17	1840387	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09		1840387	79354823	213	12294											
ITGAE	3682	genome.wustl.edu	37	chr17	3664793	3664793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggctgtgaggccgccGgaccagcacttgaatgcata	9	7	14	11	2	0	3	0	3	0	0	0	4	0	4	3	3	2	4	3	3	2	2	rs373069448		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:3664793G>A	ENST00000263087.4	-	5	435	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	113					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGAGGCCGCCGGACCAGCACT	0.602																																					NSCLC(182;635 2928 8995 38788)												0								G	TRP/ARG	0,4406		0,0,2203	54	53	53		337	2.7	0	17		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGAE	NM_002208.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	113/1180	3664793	1,13005	2203	4300	6503	SO:0001583	missense	0			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"CD molecules", "Integrins"	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.337C>T	17.37:g.3664793G>A	ENSP00000263087:p.Arg113Trp		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.R113W	ENST00000263087.4	37	c.337	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134597	0.56828	0.0	1.16E-4	ENSG00000083457	ENST00000263087	D	0.94376	-3.41	3.69	2.68	0.31781	.	.	.	.	.	D	0.93324	0.7872	L	0.43923	1.385	0.09310	N	1	D	0.89917	1.0	P	0.60609	0.877	D	0.85301	0.1073	9	0.72032	D	0.01	.	8.1454	0.31108	0.0:0.0:0.7303:0.2697	.	113	P38570	ITAE_HUMAN	W	113	ENSP00000263087:R113W	ENSP00000263087:R113W	R	-	1	2	ITGAE	3611542	0.001000	0.12720	0.017000	0.16124	0.135000	0.20990	0.657000	0.24963	1.061000	0.40601	0.407000	0.27541	CGG	ITGAE	-	NULL	ENSG00000083457		0.602	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	-	0	26	0	G	NM_002208		3664793	-1	tier1	-	no_errors	ENST00000263087	ensembl	human	known	74_37	missense	78.26	5	18	SNP	0.016	A	A	3664793	G	A	3664793	3	1	51	1	0	0	0	0	1	0	0	0	7912	1115	39	1	3310	1	ITGAE	17	3664793	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1824406	3664793	77530417	214	12295											
USP6	9098	genome.wustl.edu	37	chr17	5042962	5042962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggcaggctgaacactgCggagagggtgaggttggctt	7	9	18	7	1	0	3	0	2	0	1	0	4	0	3	0	6	3	5	0	6	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:5042962C>T	ENST00000574788.1	+	22	3721	c.1491C>T	c.(1489-1491)tgC>tgT	p.C497C	USP6_ENST00000332776.4_Silent_p.C497C|USP6_ENST00000250066.6_Silent_p.C497C|USP6_ENST00000304328.5_Silent_p.C180C			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	497					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGAACACTGCGGAGAGGGTG	0.607			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													39	42	41					17																	5042962		2203	4300	6503	SO:0001819	synonymous_variant	0			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.1491C>T	17.37:g.5042962C>T			Q15634|Q86WP6|Q8IWT4	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.C497	ENST00000574788.1	37	c.1491	CCDS11069.2	17																																																																																			USP6	-	NULL	ENSG00000129204		0.607	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	-	0	53	0	C	NM_004505		5042962	1	tier1	-	no_errors	ENST00000250066	ensembl	human	known	74_37	silent	68.85	17	42	SNP	0.001	T	T	5042962	C	T	5042962	2	4	51	1	0	0	0	0	0	0	0	1	17135	776	27	1		1	USP6	17	5042962	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1378169	5042962	76152248	215	12296											
TP53	7157	genome.wustl.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575|rs397516437		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149	112	125	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G245S	ENST00000269305.4	37	c.733	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	65	0	C	NM_000546		7577548	-1	tier1	rs28934575	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	67.86	17	38	SNP	1.000	T	T	7577548	C	T	7577548	3	4	51	1	0	0	0	0	1	0	0	0	16429	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	2534586	7577548	73617662	216	12297											
PMP22	5376	genome.wustl.edu	37	chr17	15162444	15162444	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaaacagtggtggacatTtcctgaggaagaggtgctac	12	9	14	6	0	0	3	0	2	0	2	1	6	1	5	1	4	3	1	1	4	3	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:15162444T>G	ENST00000395938.2	-	3	339	c.145A>C	c.(145-147)Aat>Cat	p.N49H	PMP22_ENST00000494511.1_Intron|PMP22_ENST00000312280.3_Missense_Mutation_p.N49H|PMP22_ENST00000395936.1_Missense_Mutation_p.N49H|PMP22_ENST00000426385.3_Missense_Mutation_p.N49H|RP11-849N15.1_ENST00000579159.1_RNA	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	49					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TGGTGGACATTTCCTGAGGAA	0.507																																																	0													205	157	173					17																	15162444		2203	4300	6503	SO:0001583	missense	0			D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.145A>C	17.37:g.15162444T>G	ENSP00000379269:p.Asn49His		Q8WV01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22,prints_PMP22_EMP_MP20	p.N49H	ENST00000395938.2	37	c.145	CCDS11168.1	17	.	.	.	.	.	.	.	.	.	.	T	9.136	1.012616	0.19277	.	.	ENSG00000109099	ENST00000395938;ENST00000312280;ENST00000426385;ENST00000395936	D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44	4.75	3.67	0.42095	.	1.043520	0.07554	N	0.915899	D	0.85592	0.5732	L	0.48642	1.525	0.09310	N	1	P	0.47191	0.891	B	0.42959	0.403	T	0.73720	-0.3894	10	0.42905	T	0.14	-10.6659	6.5275	0.22309	0.0:0.1108:0.0:0.8892	.	49	Q01453	PMP22_HUMAN	H	49	ENSP00000379269:N49H;ENSP00000308937:N49H;ENSP00000409824:N49H;ENSP00000379268:N49H	ENSP00000308937:N49H	N	-	1	0	PMP22	15103169	0.000000	0.05858	0.006000	0.13384	0.178000	0.23041	0.550000	0.23345	0.959000	0.37980	0.460000	0.39030	AAT	PMP22	-	pfam_PMP22/EMP/MP20/Claudin,prints_PMP22	ENSG00000109099		0.507	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP22	HGNC	protein_coding	OTTHUMT00000130378.1	-	0	52	0	T	NM_000304		15162444	-1	tier1	-	no_errors	ENST00000312280	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.024	G	G	15162444	T	G	15162444	3	3	51	1	0	0	0	0	1	0	0	0	12178	1841	64	4	349	4	PMP22	17	15162444	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	7584896	15162444	66032766	217	12298											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319073	21319073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcttctccatcgagaCgcagaccaccatcggctacg	8	9	7	17	4	2	2	0	0	2	2	6	3	3	2	4	1	1	2	4	1	1	3	rs536297311		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:21319073C>T	ENST00000583088.1	+	3	1314	c.419C>T	c.(418-420)aCg>aTg	p.T140M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T140M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	140					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCCATCGAGACGCAGACCACC	0.667										Prostate(3;0.18)			.|||	1	0.000199681	0	0	5008	,	,		35355	0.001		0	False		,,,				2504	0																0													45	43	44					17																	21319073		2203	4300	6503	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.419C>T	17.37:g.21319073C>T	ENSP00000463778:p.Thr140Met		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.T140M	ENST00000583088.1	37	c.419	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363062	0.82353	.	.	ENSG00000184185	ENST00000331718	D	0.98345	-4.88	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98378	1.0557	10	0.87932	D	0	.	18.7906	0.91973	0.0:1.0:0.0:0.0	.	140	Q14500	IRK12_HUMAN	M	140	ENSP00000328150:T140M	ENSP00000328150:T140M	T	+	2	0	KCNJ12	21259666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.448000	0.82819	0.591000	0.81541	ACG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000184185		0.667	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	79	0	C	NM_021012		21319073	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	10.23	79	9	SNP	1.000	T	T	21319073	C	T	21319073	3	4	51	1	0	0	0	0	1	0	0	0	8073	536	19	1	421	1	KCNJ12	17	21319073	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	6156629	21319073	59876137	218	12299											
CCL7	6354	genome.wustl.edu	37	chr17	32598171	32598171	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtttcattgcagttgggaTtaatacttcaactacctgct	9	17	7	8	0	2	0	2	0	0	0	2	1	2	1	1	1	5	4	1	1	4	8			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:32598171T>G	ENST00000378569.2	+	2	153	c.83T>G	c.(82-84)aTt>aGt	p.I28S	CCL7_ENST00000394630.3_Intron|CCL7_ENST00000200307.4_Missense_Mutation_p.I38S|CCL7_ENST00000394627.1_Missense_Mutation_p.L46V	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	28					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCAGTTGGGATTAATACTTCA	0.438																																																	0													84	81	82					17																	32598171		2203	4300	6503	SO:0001583	missense	0			AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"Chemokine ligands", "Endogenous ligands"	10634	protein-coding gene	gene with protein product	"monocyte chemoattractant protein 3", "monocyte chemotactic protein 3"	158106	"small inducible cytokine A7 (monocyte chemotactic protein 3)"	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.83T>G	17.37:g.32598171T>G	ENSP00000367832:p.Ile28Ser		Q569J6	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.I38S	ENST00000378569.2	37	c.113	CCDS11278.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.014|8.014	0.758082|0.758082	0.15846|0.15846	.|.	.|.	ENSG00000108688|ENSG00000108688	ENST00000378569;ENST00000200307|ENST00000394627	.|T	.|0.25414	.|1.8	4.94|4.94	-3.55|-3.55	0.04639|0.04639	Chemokine interleukin-8-like domain (1);|.	1.522180|.	0.03897|.	N|.	0.279741|.	T|T	0.18882|0.18882	0.0453|0.0453	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.35383|.	0.498|.	B|.	0.40329|.	0.326|.	T|T	0.36311|0.36311	-0.9753|-0.9753	8|6	0.30078|0.87932	T|D	0.28|0	.|.	1.2097|1.2097	0.01902|0.01902	0.1404:0.2877:0.2866:0.2853|0.1404:0.2877:0.2866:0.2853	.|.	28|.	P80098|.	CCL7_HUMAN|.	S|V	38;28|56	.|ENSP00000378124:L56V	ENSP00000200307:I28S|ENSP00000378124:L56V	I|L	+|+	2|1	0|2	CCL7|CCL7	29622284|29622284	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.115000|0.115000	0.15540|0.15540	-0.555000|-0.555000	0.06142|0.06142	0.533000|0.533000	0.62120|0.62120	ATT|TTA	CCL7	-	superfamily_Chemokine_IL8-like_dom	ENSG00000108688		0.438	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CCL7	HGNC	protein_coding	OTTHUMT00000256386.2	-	0	24	0	T	NM_006273		32598171	1	tier1	-	no_errors	ENST00000200307	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.000	G	G	32598171	T	G	32598171	3	3	51	1	0	0	0	0	1	0	0	0	2913	1493	52	4	89	4	CCL7	17	32598171	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	11279098	32598171	48597039	219	12300											
GAS2L2	246176	genome.wustl.edu	37	chr17	34074081	34074081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgtccctgctccccGttccctgcggggtctggggg	0	8	15	18	3	1	0	0	0	1	0	4	0	4	0	6	5	2	2	6	5	0	1	rs369252885		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:34074081G>A	ENST00000254466.6	-	5	1066	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R331W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	347					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGCTCCCCGTTCCCTGCGG	0.612																																																	0								G	TRP/ARG	1,4405		0,1,2202	29	34	32		1039	-4.9	0	17		32	0,8596		0,0,4298	no	missense	GAS2L2	NM_139285.3	101	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	347/881	34074081	1,13001	2203	4298	6501	SO:0001583	missense	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1039C>T	17.37:g.34074081G>A	ENSP00000254466:p.Arg347Trp		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.R347W	ENST00000254466.6	37	c.1039	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	8.846	0.943345	0.18281	2.27E-4	0.0	ENSG00000132139	ENST00000254466	T	0.19394	2.15	4.59	-4.89	0.03103	.	2.211840	0.01653	N	0.024643	T	0.10121	0.0248	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.37606	T	0.19	1.1167	0.8797	0.01231	0.327:0.1142:0.3268:0.2321	.	347	Q8NHY3	GA2L2_HUMAN	W	347	ENSP00000254466:R347W	ENSP00000254466:R347W	R	-	1	2	GAS2L2	31098194	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.326000	0.07965	-0.698000	0.05085	0.561000	0.74099	CGG	GAS2L2	-	NULL	ENSG00000132139		0.612	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0	21	0	G	NM_139285		34074081	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.000	A	A	34074081	G	A	34074081	3	1	51	1	0	0	0	0	1	0	0	0	6272	1144	40	1	1611	1	GAS2L2	17	34074081	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1475910	34074081	47121129	220	12301											
BPTF	2186	genome.wustl.edu	37	chr17	65905706	65905717	+	In_Frame_Del	DEL	AATATGGATGAA	AATATGGATGAA	-																															ggttctttttagccaaaaatAatatggatgaaaatatggat																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	AATATGGATGAA	AATATGGATGAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:65905706_65905717delAATATGGATGAA	ENST00000321892.4	+	12	3260_3271	c.3199_3210delAATATGGATGAA	c.(3199-3210)aatatggatgaadel	p.NMDE1071del	BPTF_ENST00000424123.3_In_Frame_Del_p.NMDE932del|BPTF_ENST00000306378.6_In_Frame_Del_p.NMDE945del|BPTF_ENST00000335221.5_In_Frame_Del_p.NMDE1071del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1071					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGCCAAAAATAATATGGATGAAAATATGGATG	0.292																																																	0																																										SO:0001651	inframe_deletion	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3199_3210delAATATGGATGAA	17.37:g.65905706_65905717delAATATGGATGAA	ENSP00000315454:p.Asn1071_Glu1074del		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.ENMD1070in_frame_del	ENST00000321892.4	37	c.3199_3210		17																																																																																			BPTF	-	NULL	ENSG00000171634		0.292	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0	56	0	AATATGGATGAA	NM_182641, NM_004459		65905717	1			no_errors	ENST00000321892	ensembl	human	known	74_37	in_frame_del	5.19	73	4	DEL	0.655:0.030:0.014:0.037:0.156:0.668:0.995:0.999:1.000:1.000:1.000:1.000	0	-	65905717	AATATGGATGAA	-	65905706	7	5	51	1	0	1	0	1	0	0	0	0	1499	362	13	0	3245	0	BPTF	17	65905706	In_Frame_Del	DEL	AATATGGATGAA	TCGA-L5-A43I-01A-11D-A247-09	31831625	65905706	15289504	221	12302											
KCTD2	23510	genome.wustl.edu	37	chr17	73045404	73045404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgggaaactcatcatcacTaaggagttggcagaagaagg	15	6	12	8	1	3	2	3	0	0	2	3	4	3	4	0	4	1	2	0	4	4	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:73045404T>C	ENST00000322444.6	+	2	435	c.429T>C	c.(427-429)acT>acC	p.T143T	ATP5H_ENST00000301587.4_5'Flank|KCTD2_ENST00000584767.1_3'UTR|KCTD2_ENST00000581589.1_5'UTR|ATP5H_ENST00000344546.4_5'Flank	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	143	BTB.				protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					TCATCATCACTAAGGAGTTGG	0.438																																																	0													96	76	83					17																	73045404		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"potassium channel tetramerisation domain containing 2"			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.429T>C	17.37:g.73045404T>C				Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.T143	ENST00000322444.6	37	c.429	CCDS32728.1	17																																																																																			KCTD2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000180901		0.438	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD2	HGNC	protein_coding	OTTHUMT00000445538.1	-	0	54	0	T			73045404	1	tier1	-	no_errors	ENST00000322444	ensembl	human	known	74_37	silent	19.39	79	19	SNP	0.604	C	C	73045404	T	C	73045404	2	2	51	1	0	0	0	0	0	0	0	1	8134	1509	53	4		4	KCTD2	17	73045404	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	7139698	73045404	8149806	222	12303											
KIAA0195	9772	genome.wustl.edu	37	chr17	73482014	73482014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcttccactggccgggGgcctcactcatgctactggc	4	10	11	16	1	2	0	2	0	0	0	4	0	4	0	4	4	3	2	4	4	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:73482014G>A	ENST00000314256.7	+	4	601	c.207G>A	c.(205-207)ggG>ggA	p.G69G	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000375248.5_Silent_p.G79G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	69						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGCCGGGGGCCTCACTCA	0.667																																																	0													25	24	24					17																	73482014		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.207G>A	17.37:g.73482014G>A			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.G69	ENST00000314256.7	37	c.207	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.667	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	-	0	58	0	G	NM_014738		73482014	1	tier1	-	no_errors	ENST00000314256	ensembl	human	known	74_37	silent	40.74	48	33	SNP	0.817	A	A	73482014	G	A	73482014	2	1	51	1	0	0	0	0	0	0	0	1	8187	1219	43	3		3	KIAA0195	17	73482014	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	436610	73482014	7713196	223	12304											
ASPSCR1	79058	genome.wustl.edu	37	chr17	79970144	79970144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtcctggacgaccacacGcagaccctctttcaggtacc	10	7	8	16	2	2	1	1	0	1	1	3	3	3	2	4	2	1	2	4	2	1	2	rs148162287	byFrequency	TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr17:79970144G>A	ENST00000306739.4	+	12	1435	c.1338G>A	c.(1336-1338)acG>acA	p.T446T	ASPSCR1_ENST00000580534.1_Silent_p.T394T|ASPSCR1_ENST00000306729.7_Silent_p.T446T	NM_024083.3	NP_076988.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	446	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|regulation of glucose import (GO:0046324)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)			ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			ACGACCACACGCAGACCCTCT	0.652			T	TFE3	alveolar soft part sarcoma																																			Dom	yes		17	17q25	79058	"alveolar soft part sarcoma chromosome region, candidate 1"		M	0								G		1,4405	2.1+/-5.4	0,1,2202	138	102	114		1338	0.3	0.4	17	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASPSCR1	NM_024083.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		446/554	79970144	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF324219	CCDS11796.1, CCDS58611.1	17q25	2011-06-28				ENSG00000169696		"UBX domain containing"	13825	protein-coding gene	gene with protein product	"UBX domain protein 9"	606236				11244503, 10506710	Standard	NM_024083		Approved	ASPS, ASPL, UBXD9, UBXN9	uc002kcy.3	Q9BZE9		ENST00000306739.4:c.1338G>A	17.37:g.79970144G>A			A8K3K9|Q7Z6N7|Q8WV59|Q96LS5|Q96M40	Missense_Mutation	SNP	NULL	p.A410T	ENST00000306739.4	37	c.1228	CCDS11796.1	17																																																																																			ASPSCR1	-	NULL	ENSG00000169696		0.652	ASPSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPSCR1	HGNC	protein_coding	OTTHUMT00000441972.1	-	0	13	0	G	NM_024083		79970144	1	tier1	rs148162287	no_errors	ENST00000584454	ensembl	human	known	74_37	missense	55.81	19	24	SNP	0.000	A	A	79970144	G	A	79970144	2	1	51	1	0	0	0	0	0	0	0	1	1060	1074	38	1		1	ASPSCR1	17	79970144	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	6488130	79970144	1225066	224	12305											
CTAGE1	64693	genome.wustl.edu	37	chr18	19995559	19995559	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtgggggctggggggAaaaatgcaggtcttggggga	10	7	21	3	0	1	1	0	0	1	1	1	3	1	3	0	8	1	2	0	8	3	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr18:19995559A>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.F739S			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGCTGGGGGGAAAAATGCAGG	0.502																																																	0													25	28	27					18																	19995559		2093	4247	6340	SO:0001631	upstream_gene_variant	0			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"cutaneous T-cell lymphoma-associated antigen 1", "cutaneous T-cell lymphoma-associated antigen 2", "cancer/testis antigen family 21, member 1", "cancer/testis antigen family 21, member 2"	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19995559A>G	Exception_encountered		B0YIZ3	Missense_Mutation	SNP	NULL	p.F739S	ENST00000525417.1	37	c.2216		18	.	.	.	.	.	.	.	.	.	.	A	0.726	-0.781638	0.02929	.	.	ENSG00000212710	ENST00000391403	T	0.09163	3.01	0.185	-0.371	0.12525	.	.	.	.	.	T	0.10208	0.0250	M	0.72118	2.19	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45527	-0.9255	7	.	.	.	.	.	.	.	.	739	Q96RT6	CTGE2_HUMAN	S	739	ENSP00000375220:F739S	.	F	-	2	0	CTAGE1	18249557	0.849000	0.29639	0.000000	0.03702	0.000000	0.00434	0.374000	0.20501	-2.103000	0.00844	-2.094000	0.00368	TTC	CTAGE1	-	NULL	ENSG00000212710		0.502	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1		0	46	0	A	NM_022663, NM_172241		19995559	-1			no_errors	ENST00000391403	ensembl	human	known	74_37	missense	5.13	81	6	SNP	0.000	G	G	19995559	A	G	19995559	1	3	51	0	1	0	0	0	0	0	0	0	4001	246	9	4		4	CTAGE1	18	19995559	5'Flank	SNP	A	TCGA-L5-A43I-01A-11D-A247-09		19995559	58081689	225	12306											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2422216	2422216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccatttccagacgcccCggaggccaccacacacaccc	10	3	8	20	3	0	1	0	0	0	1	1	3	1	2	7	2	0	0	7	2	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:2422216C>T	ENST00000332578.3	+	13	2417	c.2417C>T	c.(2416-2418)cCg>cTg	p.P806L		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	806					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGACGCCCCGGAGGCCACC	0.632																																																	0													72	81	78					19																	2422216		2203	4300	6503	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2417C>T	19.37:g.2422216C>T	ENSP00000330264:p.Pro806Leu		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.P806L	ENST00000332578.3	37	c.2417	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	C	4.437	0.080939	0.08533	.	.	ENSG00000178297	ENST00000332578	D	0.88586	-2.4	3.6	-0.0249	0.13937	.	0.522309	0.17204	N	0.182993	T	0.79293	0.4421	L	0.29908	0.895	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.62932	-0.6749	10	0.29301	T	0.29	.	8.028	0.30448	0.1299:0.702:0.0:0.168	.	806	Q7Z410	TMPS9_HUMAN	L	806	ENSP00000330264:P806L	ENSP00000330264:P806L	P	+	2	0	TMPRSS9	2373216	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.128000	0.10531	-0.289000	0.09038	-1.579000	0.00862	CCG	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1	ENSG00000178297		0.632	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	-	0	33	0	C	NM_182973		2422216	1	tier1	-	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	58.44	31	45	SNP	0.003	T	T	2422216	C	T	2422216	3	4	51	1	0	0	0	0	1	0	0	0	16300	652	23	1	2467	1	TMPRSS9	19	2422216	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09		2422216	56706767	226	12307											
DPP9	91039	genome.wustl.edu	37	chr19	4714337	4714337	+	5'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctctcagccccctcggaAttcagcgagaagctgcgggg	8	7	12	14	3	2	1	2	0	1	1	5	3	3	2	3	3	4	1	3	3	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:4714337A>G	ENST00000598800.1	-	0	487				DPP9_ENST00000262960.9_Silent_p.N23N|DPP9_ENST00000594671.1_5'Flank|DPP9_ENST00000597849.1_Silent_p.N23N			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCCCCTCGGAATTCAGCGAGA	0.632																																																	0													5	6	6					19																	4714337		1933	4054	5987	SO:0001623	5_prime_UTR_variant	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.-19T>C	19.37:g.4714337A>G			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.N23	ENST00000598800.1	37	c.69		19																																																																																			DPP9	-	NULL	ENSG00000142002		0.632	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	-	0	58	0	A			4714337	-1	tier1	-	no_errors	ENST00000262960	ensembl	human	known	74_37	silent	36.62	44	26	SNP	0.117	G	G	4714337	A	G	4714337	1	3	51	0	1	0	0	0	0	0	0	0	4747	98	4	4		4	DPP9	19	4714337	5'UTR	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	2292121	4714337	54414646	227	12308											
EVI5L	115704	genome.wustl.edu	37	chr19	7928412	7928412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcgctgccgtcgtcggacGaggagctacttggcgtaggc	6	8	15	12	6	0	0	0	0	0	0	3	3	0	2	1	4	3	3	1	4	2	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:7928412G>A	ENST00000270530.4	+	19	2405	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	EVI5L_ENST00000538904.2_Missense_Mutation_p.E748K	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	737					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GTCGTCGGACGAGGAGCTACT	0.706																																																	0													22	16	18					19																	7928412		2188	4280	6468	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2209G>A	19.37:g.7928412G>A	ENSP00000270530:p.Glu737Lys		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E748K	ENST00000270530.4	37	c.2242	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183864	0.57800	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.07800	3.16;3.17	4.37	3.33	0.38152	.	0.154724	0.40144	N	0.001176	T	0.08891	0.0220	N	0.14661	0.345	0.39516	D	0.968434	D;D	0.64830	0.994;0.994	P;P	0.53224	0.721;0.721	T	0.23547	-1.0185	10	0.62326	D	0.03	-30.8634	9.589	0.39534	0.1031:0.0:0.8969:0.0	.	748;737	B9A6I9;Q96CN4	.;EVI5L_HUMAN	K	737;748	ENSP00000270530:E737K;ENSP00000445905:E748K	ENSP00000270530:E737K	E	+	1	0	EVI5L	7834412	1.000000	0.71417	0.915000	0.36163	0.407000	0.30961	5.864000	0.69575	1.060000	0.40578	0.491000	0.48974	GAG	EVI5L	-	NULL	ENSG00000142459		0.706	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	-	0	9	0	G	NM_145245		7928412	1	tier1	-	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	42.11	11	8	SNP	1.000	A	A	7928412	G	A	7928412	3	1	51	1	0	0	0	0	1	0	0	0	5306	1059	37	1	2316	1	EVI5L	19	7928412	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3214075	7928412	51200571	228	12309											
MUC16	94025	genome.wustl.edu	37	chr19	9073728	9073728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcaagagcgtcccccatgCtggaggcaggaaccattgga	12	5	13	11	1	0	1	0	0	0	1	1	4	1	4	3	4	4	3	3	4	3	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:9073728C>A	ENST00000397910.4	-	3	13921	c.13718G>T	c.(13717-13719)aGc>aTc	p.S4573I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4575	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCCCCCATGCTGGAGGCAGG	0.517																																																	0													93	90	91					19																	9073728		2085	4216	6301	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13718G>T	19.37:g.9073728C>A	ENSP00000381008:p.Ser4573Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S4573I	ENST00000397910.4	37	c.13718	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.213476	0.00289	.	.	ENSG00000181143	ENST00000397910	T	0.23950	1.88	1.75	-0.571	0.11749	.	.	.	.	.	T	0.15955	0.0384	L	0.34521	1.04	.	.	.	B	0.15719	0.014	B	0.08055	0.003	T	0.23797	-1.0178	8	0.87932	D	0	.	3.1604	0.06518	0.185:0.2835:0.5315:0.0	.	4573	B5ME49	.	I	4573	ENSP00000381008:S4573I	ENSP00000381008:S4573I	S	-	2	0	MUC16	8934728	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.279000	0.02807	-0.075000	0.12798	-0.689000	0.03729	AGC	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	57	0	C	NM_024690		9073728	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	44.44	45	36	SNP	0.000	A	A	9073728	C	A	9073728	3	1	51	1	0	0	0	0	1	0	0	0	10011	797	28	3	30133	3	MUC16	19	9073728	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1145316	9073728	50055255	229	12310											
ZNF440	126070	genome.wustl.edu	37	chr19	11941178	11941178	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatatttcccagaggaaactCtacagggaagtgatgctgga	13	9	12	7	0	1	2	0	1	1	1	2	6	2	5	1	3	3	1	1	3	4	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:11941178C>T	ENST00000304060.5	+	2	248	c.84C>T	c.(82-84)ctC>ctT	p.L28L		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGAGGAAACTCTACAGGGAAG	0.468																																																	0													132	139	137					19																	11941178		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.84C>T	19.37:g.11941178C>T			Q8N1R9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L28	ENST00000304060.5	37	c.84	CCDS42503.1	19																																																																																			ZNF440	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171295		0.468	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	0	134	0	C	NM_152357		11941178	1	tier1	-	no_errors	ENST00000304060	ensembl	human	known	74_37	silent	28.78	99	40	SNP	0.779	T	T	11941178	C	T	11941178	2	4	51	1	0	0	0	0	0	0	0	1	17961	900	32	3		3	ZNF440	19	11941178	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	2867450	11941178	47187805	230	12311											
PLVAP	83483	genome.wustl.edu	37	chr19	17476700	17476700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagctgttcctccgccaCgcgtttgttcagcagcacgc	7	9	9	16	4	1	0	1	0	0	0	3	0	3	0	4	0	4	6	4	0	1	3	rs151286294		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:17476700C>T	ENST00000252590.4	-	3	635	c.574G>A	c.(574-576)Gtg>Atg	p.V192M		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	192					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTCCGCCACGCGTTTGTTC	0.547																																																	0								C	MET/VAL	0,4406		0,0,2203	73	70	71		574	-4.3	0	19	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PLVAP	NM_031310.1	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	192/443	17476700	1,13005	2203	4300	6503	SO:0001583	missense	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.574G>A	19.37:g.17476700C>T	ENSP00000252590:p.Val192Met		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.V192M	ENST00000252590.4	37	c.574	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	C	8.047	0.765233	0.15914	0.0	1.16E-4	ENSG00000130300	ENST00000252590	.	.	.	4.74	-4.33	0.03677	.	1.830820	0.02399	N	0.080429	T	0.22820	0.0551	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.14699	-1.0463	9	0.29301	T	0.29	-17.0697	6.4545	0.21922	0.0:0.3689:0.4107:0.2203	.	192	Q9BX97	PLVAP_HUMAN	M	192	.	ENSP00000252590:V192M	V	-	1	0	PLVAP	17337700	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-3.762000	0.00373	-0.380000	0.07894	-0.786000	0.03341	GTG	PLVAP	-	pfam_PV-1	ENSG00000130300		0.547	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	-	0	50	0	C	NM_031310		17476700	-1	tier1	rs151286294	no_errors	ENST00000252590	ensembl	human	known	74_37	missense	21.31	48	13	SNP	0.000	T	T	17476700	C	T	17476700	3	4	51	1	0	0	0	0	1	0	0	0	12155	536	19	1	770	1	PLVAP	19	17476700	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	5535522	17476700	41652283	231	12312											
COMP	1311	genome.wustl.edu	37	chr19	18897059	18897059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctccttactggtcttgatCgctgtcacaagcatctccca	7	12	7	15	1	3	1	1	1	2	0	6	1	4	1	3	1	2	2	3	1	2	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:18897059C>T	ENST00000222271.2	-	12	1341	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	COMP_ENST00000542601.2_Missense_Mutation_p.D400N|COMP_ENST00000425807.1_Missense_Mutation_p.D380N	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	433					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGTCTTGATCGCTGTCACAA	0.572																																																	0													71	70	70					19																	18897059		2203	4300	6503	SO:0001583	missense	0			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1297G>A	19.37:g.18897059C>T	ENSP00000222271:p.Asp433Asn		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.D433N	ENST00000222271.2	37	c.1297	CCDS12385.1	19	.	.	.	.	.	.	.	.	.	.	C	7.240	0.601145	0.13939	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98876	-5.2;-5.2;-5.2	4.29	3.25	0.37280	.	0.067536	0.64402	U	0.000015	D	0.92358	0.7575	N	0.10629	0.01	0.46416	D	0.999036	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	D	0.86261	0.1655	10	0.02654	T	1	-25.6768	6.1712	0.20418	0.0:0.6889:0.0:0.3111	.	380;433	B4DKJ3;P49747	.;COMP_HUMAN	N	400;433;380;420	ENSP00000439156:D400N;ENSP00000222271:D433N;ENSP00000403792:D380N	ENSP00000222271:D433N	D	-	1	0	COMP	18758059	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.695000	0.61767	0.785000	0.33685	0.491000	0.48974	GAT	COMP	-	NULL	ENSG00000105664		0.572	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1	-	0	24	0	C	NM_000095		18897059	-1	tier1	-	no_errors	ENST00000222271	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	T	T	18897059	C	T	18897059	3	4	51	1	0	0	0	0	1	0	0	0	3731	884	31	1	1008	1	COMP	19	18897059	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	1420359	18897059	40231924	232	12313											
ZNF681	148213	genome.wustl.edu	37	chr19	23927603	23927603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtttgtagagtttgtctCtagtataaattatcttatgt	10	19	7	5	1	2	1	0	0	2	1	3	1	2	1	0	0	0	4	0	0	7	8			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:23927603C>G	ENST00000402377.3	-	4	890	c.749G>C	c.(748-750)aGa>aCa	p.R250T	ZNF681_ENST00000395385.3_Missense_Mutation_p.R181T	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAGTTTGTCTCTAGTATAAAT	0.348																																																	0													98	97	97					19																	23927603		2203	4300	6503	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.749G>C	19.37:g.23927603C>G	ENSP00000384000:p.Arg250Thr		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R250T	ENST00000402377.3	37	c.749	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	9.862	1.196441	0.22037	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.07688	3.31;3.17	1.6	0.427	0.16489	Zinc finger, C2H2 (1);	.	.	.	.	T	0.06600	0.0169	L	0.34521	1.04	0.20873	N	0.99984	B	0.23377	0.084	B	0.20384	0.029	T	0.35076	-0.9803	9	0.72032	D	0.01	.	5.8991	0.18955	0.0:0.8048:0.0:0.1952	.	250	Q96N22	ZN681_HUMAN	T	250;181	ENSP00000384000:R250T;ENSP00000378783:R181T	ENSP00000378783:R181T	R	-	2	0	ZNF681	23719443	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.110000	0.15437	0.007000	0.14760	-0.384000	0.06662	AGA	ZNF681	-	pfscan_Znf_C2H2	ENSG00000196172		0.348	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	81	0	C	NM_138286		23927603	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	54.12	39	46	SNP	0.820	G	G	23927603	C	G	23927603	3	3	51	1	0	0	0	0	1	0	0	0	18136	913	32	5	1192	5	ZNF681	19	23927603	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	5030544	23927603	35201380	233	12314											
MLL4	9757	genome.wustl.edu	37	chr19	36211320	36211320	+	Frame_Shift_Del	DEL	G	G	-																															agcccttgctggaaaaagcaGgaacagaagctggatgacga																										TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:36211320delG	ENST00000222270.7	+	3	1071	c.1071delG	c.(1069-1071)cagfs	p.Q357fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Frame_Shift_Del_p.Q357fs|KMT2B_ENST00000420124.1_Frame_Shift_Del_p.Q357fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	357					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGAAAAAGCAGGAACAGAAGC	0.478																																																	0													20	22	21					19																	36211320		1955	4141	6096	SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.1071delG	19.37:g.36211320delG	ENSP00000222270:p.Gln357fs		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Del	DEL	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E358fs	ENST00000222270.7	37	c.1071	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.478	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0	41	0	G	NM_014727		36211320	1	tier1		no_errors	ENST00000222270	ensembl	human	known	74_37	frame_shift_del	29.69	45	19	DEL	0.997	-	-	36211320	G	-	36211320	7	5	51	1	0	1	0	1	0	0	0	0	9661	991	35	0	1081	0	MLL4	19	36211320	Frame_Shift_Del	DEL	G	TCGA-L5-A43I-01A-11D-A247-09	12283717	36211320	22917663	234	12315											
ZNF566	84924	genome.wustl.edu	37	chr19	36939893	36939893	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcatcaccagtacaaatTttgatgctgaataagttgtg	12	15	8	6	0	2	2	2	2	0	0	2	2	2	2	1	0	2	4	1	0	4	6			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:36939893T>G	ENST00000434377.2	-	5	1324	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	ZNF566_ENST00000493391.1_Missense_Mutation_p.N311H|ZNF566_ENST00000454319.1_Missense_Mutation_p.N416H|ZNF566_ENST00000392170.2_Missense_Mutation_p.N416H|ZNF566_ENST00000424129.2_Missense_Mutation_p.N415H	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CAGTACAAATTTTGATGCTGA	0.313																																																	0													52	52	52					19																	36939893		2203	4300	6503	SO:0001583	missense	0			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"Zinc fingers, C2H2-type", "-"	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.1243A>C	19.37:g.36939893T>G	ENSP00000415520:p.Asn415His		B7ZL95|Q2M3J1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N416H	ENST00000434377.2	37	c.1246	CCDS12494.1	19	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550335	0.45383	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.04917	3.53;3.53;3.53;3.53	3.37	3.37	0.38596	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45867	D	0.000333	T	0.07143	0.0181	L	0.27053	0.805	0.31047	N	0.71571	P;P	0.38167	0.621;0.621	B;B	0.42882	0.401;0.308	T	0.03651	-1.1016	10	0.87932	D	0	.	11.7702	0.51953	0.0:0.0:0.0:1.0	.	416;415	B7ZL95;Q969W8	.;ZN566_HUMAN	H	416;415;416;415	ENSP00000394207:N416H;ENSP00000415520:N415H;ENSP00000376010:N416H;ENSP00000401259:N415H	ENSP00000376010:N416H	N	-	1	0	ZNF566	41631733	.	.	0.999000	0.59377	0.938000	0.57974	.	.	1.802000	0.52723	0.449000	0.29647	AAT	ZNF566	-	NULL	ENSG00000186017		0.313	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	-	0	45	0	T	NM_032838		36939893	-1	tier1	-	no_errors	ENST00000392170	ensembl	human	known	74_37	missense	24.59	46	15	SNP	1.000	G	G	36939893	T	G	36939893	3	3	51	1	0	0	0	0	1	0	0	0	18045	1841	64	4	17	4	ZNF566	19	36939893	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	728573	36939893	22189090	235	12316											
APOC2	344	genome.wustl.edu	37	chr19	45452446	45452446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaagcacagcagccatGagcacttacacaggcatttt	15	7	8	11	0	0	1	0	1	0	0	0	1	0	1	1	1	6	5	1	1	3	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:45452446G>T	ENST00000590360.1	+	4	368	c.246G>T	c.(244-246)atG>atT	p.M82I	APOC2_ENST00000591597.1_Missense_Mutation_p.M68I|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.M159I|APOC4_ENST00000419266.2_3'UTR|APOC2_ENST00000592257.1_3'UTR|APOC2_ENST00000252490.4_Missense_Mutation_p.M82I|APOC2_ENST00000585786.1_3'UTR			P02655	APOC2_HUMAN	apolipoprotein C-II	82					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|liver(1)|lung(3)	6	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		CAGCAGCCATGAGCACTTACA	0.562																																																	0													94	79	84					19																	45452446		2203	4300	6503	SO:0001583	missense	0			X00568	CCDS12650.1	19q13.2	2013-01-24			ENSG00000234906	ENSG00000234906		"Apolipoproteins"	609	protein-coding gene	gene with protein product		608083					Standard	NM_000483		Approved			P02655	OTTHUMG00000180847	ENST00000590360.1:c.246G>T	19.37:g.45452446G>T	ENSP00000466775:p.Met82Ile		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_Apo-CII	p.M82I	ENST00000590360.1	37	c.246	CCDS12650.1	19	.	.	.	.	.	.	.	.	.	.	G	8.446	0.852073	0.17034	.	.	ENSG00000234906	ENST00000252490	T	0.78707	-1.2	4.39	3.32	0.38043	ApoC-II domain (1);	0.289686	0.23483	N	0.047696	T	0.63379	0.2506	N	0.21448	0.665	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.54906	-0.8223	10	0.44086	T	0.13	-6.6389	10.4658	0.44607	0.0:0.1986:0.8014:0.0	.	82	P02655	APOC2_HUMAN	I	82	ENSP00000252490:M82I	ENSP00000252490:M82I	M	+	3	0	APOC2	50144286	0.915000	0.31059	0.006000	0.13384	0.139000	0.21198	1.828000	0.39111	0.956000	0.37904	0.393000	0.25936	ATG	APOC2	-	pfam_Apo-CII	ENSG00000234906		0.562	APOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC2	HGNC	protein_coding	OTTHUMT00000453261.1	-	0	61	0	G	NM_000483		45452446	1	tier1	-	no_errors	ENST00000252490	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.058	T	T	45452446	G	T	45452446	3	4	51	1	0	0	0	0	1	0	0	0	798	1290	45	3	256	3	APOC2	19	45452446	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	8512553	45452446	13676537	236	12317											
OPA3	80207	genome.wustl.edu	37	chr19	46056804	46056804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggcactgcgtgggaagCggaccggccgggattgcaga	8	4	18	11	5	0	1	0	0	0	1	0	4	0	4	2	5	3	3	2	5	1	1	rs374639297		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:46056804C>T	ENST00000263275.4	-	2	562	c.508G>A	c.(508-510)Gct>Act	p.A170T	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.A117T	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	170					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCGTGGGAAGCGGACCGGCCG	0.642																																																	0									,THR/ALA	0,4360		0,0,2180	48	53	51		,508	-2.6	0	19		51	2,8516		0,2,4257	no	intron,missense	OPA3	NM_001017989.2,NM_025136.3	,58	0,2,6437	TT,TC,CC		0.0235,0.0,0.0155	,	,170/180	46056804	2,12876	2180	4259	6439	SO:0001583	missense	0			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.508G>A	19.37:g.46056804C>T	ENSP00000263275:p.Ala170Thr		Q6P384|Q8N784	Missense_Mutation	SNP	pfam_OPA3-like	p.A170T	ENST00000263275.4	37	c.508	CCDS12668.1	19	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343370	0.41498	0.0	2.35E-4	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.84516	-1.86;-1.86	3.7	-2.56	0.06268	.	.	.	.	.	T	0.69441	0.3111	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.51624	-0.8682	9	0.21014	T	0.42	.	0.5443	0.00651	0.177:0.3111:0.1736:0.3382	.	170	Q9H6K4	OPA3_HUMAN	T	170;117	ENSP00000263275:A170T;ENSP00000442839:A117T	ENSP00000263275:A170T	A	-	1	0	OPA3	50748644	0.000000	0.05858	0.000000	0.03702	0.238000	0.25445	-0.561000	0.05957	-0.345000	0.08325	0.491000	0.48974	GCT	OPA3	-	NULL	ENSG00000125741		0.642	OPA3-002	KNOWN	basic|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459601.1	-	0	25	0	C			46056804	-1	tier1	-	no_errors	ENST00000263275	ensembl	human	known	74_37	missense	16.36	46	9	SNP	0.000	T	T	46056804	C	T	46056804	3	4	51	1	0	0	0	0	1	0	0	0	10911	768	27	1	440	1	OPA3	19	46056804	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	604358	46056804	13072179	237	12318											
OPA3	80207	genome.wustl.edu	37	chr19	46056849	46056849	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgcgcacctcttgcagctCtgtgcgcagttcctccaggg	4	9	13	15	3	2	0	0	0	2	0	4	0	4	0	3	2	3	5	3	2	0	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:46056849C>G	ENST00000263275.4	-	2	517	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.E102Q	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	155					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		TCTTGCAGCTCTGTGCGCAGT	0.692																																																	0													28	34	32					19																	46056849		2189	4273	6462	SO:0001583	missense	0			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.463G>C	19.37:g.46056849C>G	ENSP00000263275:p.Glu155Gln		Q6P384|Q8N784	Missense_Mutation	SNP	pfam_OPA3-like	p.E155Q	ENST00000263275.4	37	c.463	CCDS12668.1	19	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.928441	0.00493	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.82893	-1.61;-1.66	3.89	1.72	0.24424	.	.	.	.	.	T	0.62332	0.2419	N	0.04508	-0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.45175	-0.9279	9	0.14252	T	0.57	.	10.3643	0.44015	0.0:0.5585:0.4415:0.0	.	155	Q9H6K4	OPA3_HUMAN	Q	155;102	ENSP00000263275:E155Q;ENSP00000442839:E102Q	ENSP00000263275:E155Q	E	-	1	0	OPA3	50748689	0.276000	0.24211	0.370000	0.25965	0.026000	0.11368	0.254000	0.18314	0.621000	0.30232	-0.479000	0.04858	GAG	OPA3	-	NULL	ENSG00000125741		0.692	OPA3-002	KNOWN	basic|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459601.1		0	11	0	C			46056849	-1			no_errors	ENST00000263275	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.373	G	G	46056849	C	G	46056849	3	3	51	1	0	0	0	0	1	0	0	0	10911	922	32	5	485	5	OPA3	19	46056849	Missense_Mutation	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	45	46056849	13072134	238	12319											
ZNF28	7576	genome.wustl.edu	37	chr19	53303155	53303155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgatggtatacgagggatGacatctgactgaaggtcttg	11	12	13	5	1	2	4	0	4	2	0	2	6	2	5	0	3	1	1	0	3	4	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:53303155G>A	ENST00000457749.2	-	4	2062	c.1943C>T	c.(1942-1944)tCa>tTa	p.S648L	ZNF28_ENST00000414252.2_Missense_Mutation_p.S595L|ZNF28_ENST00000360272.4_Missense_Mutation_p.S595L|ZNF28_ENST00000438150.2_Missense_Mutation_p.S595L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	648					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TACGAGGGATGACATCTGACT	0.428																																																	0													200	189	193					19																	53303155		2203	4300	6503	SO:0001583	missense	0			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"Zinc fingers, C2H2-type", "-"	13073	protein-coding gene	gene with protein product			"zinc finger protein 28 (KOX 24)"				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1943C>T	19.37:g.53303155G>A	ENSP00000397693:p.Ser648Leu		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S648L	ENST00000457749.2	37	c.1943	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	13.93	2.382897	0.42207	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.01705	4.68;4.68;4.68;4.68	1.81	1.81	0.25067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	M	0.70842	2.15	0.09310	N	1	D	0.54601	0.967	D	0.63597	0.916	T	0.17319	-1.0373	9	0.62326	D	0.03	.	7.3061	0.26449	0.0:0.0:0.7383:0.2617	.	648	P17035	ZNF28_HUMAN	L	595;648;595;595	ENSP00000412143:S595L;ENSP00000397693:S648L;ENSP00000353410:S595L;ENSP00000444965:S595L	ENSP00000353410:S595L	S	-	2	0	ZNF28	57994967	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.487000	0.06505	0.995000	0.38917	0.298000	0.19748	TCA	ZNF28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198538		0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	-	0	87	0	G	NM_006969		53303155	-1	tier1	-	no_errors	ENST00000457749	ensembl	human	known	74_37	missense	15.33	127	23	SNP	0.005	A	A	53303155	G	A	53303155	3	1	51	1	0	0	0	0	1	0	0	0	17861	1294	45	3	217	3	ZNF28	19	53303155	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	7246306	53303155	5825828	239	12320											
VN1R2	317701	genome.wustl.edu	37	chr19	53761767	53761767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcattcggggccactaccGgtctccgcgtcttggtggta	4	11	14	12	4	2	0	0	0	2	0	4	0	2	0	3	6	1	2	3	6	2	4	rs111541974		TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:53761767G>A	ENST00000341702.3	+	1	223	c.139G>A	c.(139-141)Ggt>Agt	p.G47S		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	47					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ggccactaccggtctccgcgt	0.493																																																	0																																										SO:0001583	missense	0			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.139G>A	19.37:g.53761767G>A	ENSP00000351244:p.Gly47Ser		A1L411|Q8TDU4	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.G47S	ENST00000341702.3	37	c.139	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.275758	0.01410	.	.	ENSG00000196131	ENST00000341702	T	0.13089	2.62	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	P	0.41393	0.748	B	0.19391	0.025	T	0.34750	-0.9816	8	0.87932	D	0	.	.	.	.	.	47	Q8NFZ6	VN1R2_HUMAN	S	47	ENSP00000351244:G47S	ENSP00000351244:G47S	G	+	1	0	VN1R2	58453579	0.012000	0.17670	0.020000	0.16555	0.021000	0.10359	-2.813000	0.00753	-1.443000	0.01953	-1.435000	0.01079	GGT	VN1R2	-	NULL	ENSG00000196131		0.493	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	-	0	23	0	G	NM_173856		53761767	1	tier1	rs111541974	no_errors	ENST00000341702	ensembl	human	known	74_37	missense	33.33	36	18	SNP	0.025	A	A	53761767	G	A	53761767	3	1	51	1	0	0	0	0	1	0	0	0	17228	1116	39	1	141	1	VN1R2	19	53761767	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	458612	53761767	5367216	240	12321											
USP29	57663	genome.wustl.edu	37	chr19	57642310	57642310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccacctccaggtgttaGgaagctggatgcccaggaac	10	6	13	12	0	0	0	0	0	0	0	1	3	1	3	4	5	3	3	4	5	3	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:57642310G>A	ENST00000254181.4	+	4	2721	c.2267G>A	c.(2266-2268)aGg>aAg	p.R756K	USP29_ENST00000598197.1_Missense_Mutation_p.R756K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	756	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCAGGTGTTAGGAAGCTGGAT	0.478																																																	0													51	45	47					19																	57642310		2203	4300	6503	SO:0001583	missense	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2267G>A	19.37:g.57642310G>A	ENSP00000254181:p.Arg756Lys			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R756K	ENST00000254181.4	37	c.2267	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.771975	0.00645	.	.	ENSG00000131864	ENST00000254181	T	0.44482	0.92	1.72	0.571	0.17352	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.18257	0.0438	N	0.22421	0.69	0.09310	N	1	P	0.39576	0.679	B	0.32465	0.146	T	0.15752	-1.0426	9	0.02654	T	1	.	5.7828	0.18316	0.0:0.3408:0.6592:0.0	.	756	Q9HBJ7	UBP29_HUMAN	K	756	ENSP00000254181:R756K	ENSP00000254181:R756K	R	+	2	0	USP29	62334122	0.005000	0.15991	0.001000	0.08648	0.000000	0.00434	1.057000	0.30492	0.230000	0.21059	-0.479000	0.04858	AGG	USP29	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000131864		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	-	0	24	0	G			57642310	1	tier1	-	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.001	A	A	57642310	G	A	57642310	3	1	51	1	0	0	0	0	1	0	0	0	17108	1000	35	3	2269	3	USP29	19	57642310	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	3880543	57642310	1486673	241	12322											
ZIM3	114026	genome.wustl.edu	37	chr19	57648269	57648269	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacttcccagcacttcctcTtcctccaaccatggctcctt	6	12	3	20	0	1	0	0	0	1	0	6	0	6	0	7	1	2	2	7	1	1	4			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr19:57648269T>C	ENST00000269834.1	-	4	598	c.213A>G	c.(211-213)gaA>gaG	p.E71E	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCACTTCCTCTTCCTCCAACC	0.522																																																	0													287	193	225					19																	57648269		2203	4300	6503	SO:0001819	synonymous_variant	0			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.213A>G	19.37:g.57648269T>C			Q14CA6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E71	ENST00000269834.1	37	c.213	CCDS33125.1	19																																																																																			ZIM3	-	pfscan_Krueppel-associated_box	ENSG00000141946		0.522	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	HGNC	protein_coding	OTTHUMT00000465078.1	-	0	79	0	T			57648269	-1	tier1	-	no_errors	ENST00000269834	ensembl	human	known	74_37	silent	15.04	113	20	SNP	0.000	C	C	57648269	T	C	57648269	2	2	51	1	0	0	0	0	0	0	0	1	17733	1606	56	4		4	ZIM3	19	57648269	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	5959	57648269	1480714	242	12323											
THBD	7056	genome.wustl.edu	37	chr20	23028817	23028817	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgttttcgcactcgtcgAtgtccgtgcagatgaaaccg	7	10	11	13	7	0	2	0	1	0	1	4	3	1	2	3	0	2	3	3	0	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr20:23028817A>C	ENST00000377103.2	-	1	1561	c.1325T>G	c.(1324-1326)aTc>aGc	p.I442S		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	442	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	GCACTCGTCGATGTCCGTGCA	0.642																																																	0													54	49	51					20																	23028817		2203	4300	6503	SO:0001583	missense	0				CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"CD molecules"	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.1325T>G	20.37:g.23028817A>C	ENSP00000366307:p.Ile442Ser		Q8IV29|Q9UC32	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin	p.I442S	ENST00000377103.2	37	c.1325	CCDS13148.1	20	.	.	.	.	.	.	.	.	.	.	A	15.25	2.779153	0.49891	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	D	0.93604	-3.25	4.82	4.82	0.62117	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.563014	0.15363	U	0.266307	D	0.97151	0.9069	M	0.91249	3.19	0.50313	D	0.999863	D	0.89917	1.0	D	0.71414	0.973	D	0.97277	0.9915	10	0.66056	D	0.02	-17.0391	13.5572	0.61765	1.0:0.0:0.0:0.0	.	442	P07204	TRBM_HUMAN	S	442;424	ENSP00000366307:I442S	ENSP00000366307:I442S	I	-	2	0	THBD	22976817	1.000000	0.71417	0.984000	0.44739	0.110000	0.19582	4.445000	0.60007	1.797000	0.52628	0.459000	0.35465	ATC	THBD	-	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	ENSG00000178726		0.642	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBD	HGNC	protein_coding	OTTHUMT00000078307.2	-	0	52	0	A			23028817	-1	tier1	-	no_errors	ENST00000377103	ensembl	human	known	74_37	missense	23.53	78	24	SNP	0.986	C	C	23028817	A	C	23028817	3	2	51	1	0	0	0	0	1	0	0	0	15899	333	12	4	406	4	THBD	20	23028817	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09		23028817	39996703	243	12324											
DNMT3B	1789	genome.wustl.edu	37	chr20	31376728	31376728	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcctggtggcccgcCatggtggtgtcttggaaggc	3	11	16	11	1	2	0	0	0	2	0	3	1	2	1	3	7	0	1	3	7	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr20:31376728C>T	ENST00000328111.2	+	7	1044	c.723C>T	c.(721-723)gcC>gcT	p.A241A	DNMT3B_ENST00000353855.2_Silent_p.A241A|DNMT3B_ENST00000456297.2_Silent_p.A165A|DNMT3B_ENST00000443239.3_Silent_p.A199A|DNMT3B_ENST00000201963.3_Silent_p.A253A|DNMT3B_ENST00000375623.4_Silent_p.A199A|DNMT3B_ENST00000344505.4_Silent_p.A241A|DNMT3B_ENST00000348286.2_Silent_p.A241A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	241	Interaction with DNMT1 and DNMT3A.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)	p.A241A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGCCCGCCATGGTGGTGT	0.572																																																	1	Substitution - coding silent(1)	ovary(1)											87	83	84					20																	31376728		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.723C>T	20.37:g.31376728C>T			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.A241	ENST00000328111.2	37	c.723	CCDS13205.1	20																																																																																			DNMT3B	-	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	ENSG00000088305		0.572	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	HGNC	protein_coding	OTTHUMT00000078643.2	-	0	86	0	C	NM_006892		31376728	1	tier1	-	no_errors	ENST00000328111	ensembl	human	known	74_37	silent	50.00	95	95	SNP	1.000	T	T	31376728	C	T	31376728	2	4	51	1	0	0	0	0	0	0	0	1	4691	581	21	3		3	DNMT3B	20	31376728	Silent	SNP	C	TCGA-L5-A43I-01A-11D-A247-09	8347911	31376728	31648792	244	12325											
NCOA6	23054	genome.wustl.edu	37	chr20	33337958	33337958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggaaagcatctgcttGggtggggtcatcctttgggg	5	12	17	7	0	2	0	1	0	1	0	3	1	3	1	1	6	3	3	1	6	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr20:33337958G>A	ENST00000374796.2	-	10	4610	c.2040C>T	c.(2038-2040)ccC>ccT	p.P680P	NCOA6_ENST00000359003.2_Silent_p.P680P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	680	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCATCTGCTTGGGTGGGGTCA	0.567																																																	0													61	62	61					20																	33337958		2203	4300	6503	SO:0001819	synonymous_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2040C>T	20.37:g.33337958G>A			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.P680	ENST00000374796.2	37	c.2040	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.567	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	-	0	13	0	G	NM_014071		33337958	-1	tier1	-	no_errors	ENST00000359003	ensembl	human	known	74_37	silent	25.64	29	10	SNP	1.000	A	A	33337958	G	A	33337958	2	1	51	1	0	0	0	0	0	0	0	1	10272	1335	47	3		3	NCOA6	20	33337958	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	1961230	33337958	29687562	245	12326											
MYH7B	57644	genome.wustl.edu	37	chr20	33586548	33586548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgccctggcccacgccgtGcaggctctgcggcacgactg	5	6	14	16	4	1	0	0	0	1	0	1	1	1	0	3	3	3	3	3	3	0	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr20:33586548G>A	ENST00000262873.7	+	33	4238	c.4146G>A	c.(4144-4146)gtG>gtA	p.V1382V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1340						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCCACGCCGTGCAGGCTCTGC	0.672																																																	0													21	24	23					20																	33586548		2194	4291	6485	SO:0001819	synonymous_variant	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.4146G>A	20.37:g.33586548G>A			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1382	ENST00000262873.7	37	c.4146	CCDS42869.1	20																																																																																			MYH7B	-	pfam_Myosin_tail	ENSG00000078814		0.672	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	17	0	G	NM_020884		33586548	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	silent	28.57	20	8	SNP	0.991	A	A	33586548	G	A	33586548	2	1	51	1	0	0	0	0	0	0	0	1	10078	1306	46	3		3	MYH7B	20	33586548	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	248590	33586548	29438972	246	12327											
PTPRT	11122	genome.wustl.edu	37	chr20	40739098	40739098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctggtgaagtggaagagGcggagctcccggatctcatg	9	7	16	9	2	1	2	1	1	1	1	3	5	2	5	1	5	2	2	1	5	2	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr20:40739098G>T	ENST00000373187.1	-	23	3128	c.3129C>A	c.(3127-3129)cgC>cgA	p.R1043R	PTPRT_ENST00000373198.4_Silent_p.R1062R|PTPRT_ENST00000373184.1_Silent_p.R1053R|PTPRT_ENST00000373190.1_Silent_p.R1042R|PTPRT_ENST00000356100.2_Silent_p.R1052R|PTPRT_ENST00000373201.1_Silent_p.R1033R|PTPRT_ENST00000373193.3_Silent_p.R1046R			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1043	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGTGGAAGAGGCGGAGCTCCC	0.622																																																	0													59	70	67					20																	40739098		1976	4142	6118	SO:0001819	synonymous_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3129C>A	20.37:g.40739098G>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R1062	ENST00000373187.1	37	c.3186	CCDS42874.1	20																																																																																			PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000196090		0.622	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	20	0	G			40739098	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.978	T	T	40739098	G	T	40739098	2	4	51	1	0	0	0	0	0	0	0	1	12857	1190	42	3		3	PTPRT	20	40739098	Silent	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	7152550	40739098	22286422	247	12328											
PRIC285	85441	genome.wustl.edu	37	chr20	62193251	62193251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccgcttctccccacGgggggggcctccgggctgca	3	5	14	19	3	1	0	0	0	1	0	3	0	2	0	7	5	2	3	7	5	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr20:62193251G>A	ENST00000467148.1	-	11	6685	c.6616C>T	c.(6616-6618)Cgt>Tgt	p.R2206C	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1637C	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2206	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TTCTCCCCACGGGGGGGGCCT	0.647																																																	0																																										SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6616C>T	20.37:g.62193251G>A	ENSP00000417401:p.Arg2206Cys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R2206C	ENST00000467148.1	37	c.6616	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429697	0.43122	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80214	-1.35;-1.25	3.93	-2.82	0.05787	ATPase, AAA+ type, core (1);	6.592870	0.00357	N	0.000024	T	0.73729	0.3624	L	0.27053	0.805	0.09310	N	1	D;P	0.58970	0.984;0.85	P;B	0.51918	0.684;0.235	T	0.61831	-0.6982	10	0.35671	T	0.21	.	1.8768	0.03219	0.1094:0.228:0.3039:0.3587	.	2206;1637	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	C	1637;2206	ENSP00000393257:R1637C;ENSP00000417401:R2206C	ENSP00000393257:R1637C	R	-	1	0	RP4-697K14.7	61663695	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.420000	0.07062	-1.091000	0.03065	-0.540000	0.04249	CGT	HELZ2	-	superfamily_P-loop_NTPase	ENSG00000130589		0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1		0	10	0	G	NM_001037335		62193251	-1			no_errors	ENST00000467148	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.000	A	A	62193251	G	A	62193251	3	1	51	1	0	0	0	0	1	0	0	0	12527	1116	39	1	1369	1	PRIC285	20	62193251	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	21454153	62193251	832269	248	12329											
TPTE	7179	genome.wustl.edu	37	chr21	10920111	10920111	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtttttactccctgaaaTttttcgctgtgggttttatc	6	19	9	7	1	0	1	0	1	0	0	3	2	1	2	1	2	1	3	1	2	3	7			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr21:10920111T>A	ENST00000361285.4	-	19	1472	c.1143A>T	c.(1141-1143)aaA>aaT	p.K381N	TPTE_ENST00000342420.5_Missense_Mutation_p.K343N|TPTE_ENST00000298232.7_Missense_Mutation_p.K363N|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	381	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTCCCTGAAATTTTTCGCTGT	0.388																																																	0													94	90	91					21																	10920111		2203	4300	6503	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1143A>T	21.37:g.10920111T>A	ENSP00000355208:p.Lys381Asn		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.K381N	ENST00000361285.4	37	c.1143	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	9.389	1.075003	0.20227	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.98567	-5.0;-5.0;-5.0	2.32	1.13	0.20643	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98333	0.9447	M	0.85710	2.77	0.45464	D	0.998431	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.70227	0.964;0.964;0.968	D	0.96490	0.9363	10	0.62326	D	0.03	-19.3882	3.6756	0.08291	0.0:0.2209:0.0:0.7791	.	343;363;381	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	363;381;343	ENSP00000298232:K363N;ENSP00000355208:K381N;ENSP00000344441:K343N	ENSP00000298232:K363N	K	-	3	2	TPTE	9941982	1.000000	0.71417	0.736000	0.30914	0.093000	0.18481	0.263000	0.18478	0.172000	0.19760	0.155000	0.16302	AAA	TPTE	-	pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000166157		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	207	0	T			10920111	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	20.21	154	39	SNP	0.893	A	A	10920111	T	A	10920111	3	1	51	1	0	0	0	0	1	0	0	0	16478	1490	52	5	536	5	TPTE	21	10920111	Missense_Mutation	SNP	T	TCGA-L5-A43I-01A-11D-A247-09		10920111	37209784	249	12330											
NCAM2	4685	genome.wustl.edu	37	chr21	22910257	22910257	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgacatcattcaatcaaaAgaagacgacagcaaagcata	21	5	6	9	2	3	2	3	0	0	2	3	4	3	2	0	0	3	2	0	0	7	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr21:22910257A>C	ENST00000400546.1	+	18	2742	c.2493A>C	c.(2491-2493)aaA>aaC	p.K831N	NCAM2_ENST00000284894.7_Missense_Mutation_p.K689N	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	831					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTCAATCAAAAGAAGACGACA	0.358																																																	0													53	53	53					21																	22910257		1835	4084	5919	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2493A>C	21.37:g.22910257A>C	ENSP00000383392:p.Lys831Asn		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.K831N	ENST00000400546.1	37	c.2493	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481695	0.44147	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.62941	-0.01;0.07	5.86	5.86	0.93980	.	0.176678	0.64402	D	0.000011	T	0.53786	0.1818	N	0.20766	0.605	0.80722	D	1	D;D	0.53619	0.961;0.961	P;P	0.47206	0.541;0.541	T	0.55134	-0.8188	10	0.36615	T	0.2	-31.1757	15.0645	0.71983	1.0:0.0:0.0:0.0	.	689;831	B7Z5K2;O15394	.;NCAM2_HUMAN	N	831;689	ENSP00000383392:K831N;ENSP00000284894:K689N	ENSP00000284894:K689N	K	+	3	2	NCAM2	21832128	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	5.353000	0.66034	2.238000	0.73509	0.477000	0.44152	AAA	NCAM2	-	NULL	ENSG00000154654		0.358	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	16	0	A	NM_004540		22910257	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	C	C	22910257	A	C	22910257	3	2	51	1	0	0	0	0	1	0	0	0	10242	69	3	4	2563	4	NCAM2	21	22910257	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	11990146	22910257	25219638	250	12331											
DSCAM	1826	genome.wustl.edu	37	chr21	41416086	41416086	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtgttggcagcctccAgtctgtggtgagggtgtgtg	3	12	18	8	0	1	1	0	1	1	0	2	1	2	1	3	4	1	2	3	4	0	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr21:41416086A>T	ENST00000400454.1	-	31	5779	c.5302T>A	c.(5302-5304)Tgg>Agg	p.W1768R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1768					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCAGCCTCCAGTCTGTGGTG	0.617																																					Melanoma(134;970 1778 1785 21664 32388)												0													117	128	124					21																	41416086		2170	4281	6451	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5302T>A	21.37:g.41416086A>T	ENSP00000383303:p.Trp1768Arg		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W1768R	ENST00000400454.1	37	c.5302	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	a	25.2	4.614392	0.87359	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.60797	0.16;0.3	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.32530	0.975	0.51767	D	0.999936	D	0.76494	0.999	D	0.83275	0.996	T	0.68977	-0.5267	10	0.52906	T	0.07	.	15.6915	0.77457	1.0:0.0:0.0:0.0	.	1768	O60469	DSCAM_HUMAN	R	1768;1520	ENSP00000383303:W1768R;ENSP00000385342:W1520R	ENSP00000383303:W1768R	W	-	1	0	DSCAM	40337956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.228000	0.95250	2.107000	0.64212	0.533000	0.62120	TGG	DSCAM	-	NULL	ENSG00000171587		0.617	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	93	0	A	NM_001389		41416086	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	18.42	62	14	SNP	1.000	T	T	41416086	A	T	41416086	3	4	51	1	0	0	0	0	1	0	0	0	4782	188	7	5	748	5	DSCAM	21	41416086	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	18505829	41416086	6713809	251	12332											
C22orf25	128989	genome.wustl.edu	37	chr22	20040017	20040017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaaggcaaggaaggaGgcacatggctgggcatcagc	12	4	18	7	0	1	0	1	0	0	0	1	4	1	4	0	8	1	4	0	8	3	0			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr22:20040017G>T	ENST00000327374.4	+	4	353	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	TANGO2_ENST00000398042.2_Missense_Mutation_p.G59C|TANGO2_ENST00000432883.1_Missense_Mutation_p.G59C|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000434570.2_Missense_Mutation_p.G100C|TANGO2_ENST00000456048.1_Missense_Mutation_p.G64C|TANGO2_ENST00000447208.2_Missense_Mutation_p.G59C|TANGO2_ENST00000401833.1_Missense_Mutation_p.G100C|TANGO2_ENST00000420290.2_5'UTR|TANGO2_ENST00000401886.1_Missense_Mutation_p.G59C	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	59																	CAAGGAAGGAGGCACATGGCT	0.627																																																	0													101	69	80					22																	20040017		2199	4300	6499	SO:0001583	missense	0				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.175G>T	22.37:g.20040017G>T	ENSP00000332721:p.Gly59Cys		A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Missense_Mutation	SNP	pfam_DUF833	p.G64C	ENST00000327374.4	37	c.190	CCDS13772.1	22	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706636	0.89018	.	.	ENSG00000183597	ENST00000401886;ENST00000432198;ENST00000447208;ENST00000398042;ENST00000450664;ENST00000327374;ENST00000432883;ENST00000401833;ENST00000434168;ENST00000434570;ENST00000456048	T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	H	0.97896	4.1	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.93585	0.6916	10	0.87932	D	0	-36.4574	16.5095	0.84280	0.0:0.0:1.0:0.0	.	59;100;59;100;59;59;59	B7Z9Q5;B7Z730;B7Z4A5;B7WNV6;Q6AHY1;Q6ICL3;Q6ICL3-2	.;.;.;.;.;CV025_HUMAN;.	C	59;59;59;59;59;59;59;100;59;100;64	ENSP00000385662:G59C;ENSP00000413850:G59C;ENSP00000389797:G59C;ENSP00000381122:G59C;ENSP00000415450:G59C;ENSP00000332721:G59C;ENSP00000402926:G59C;ENSP00000384827:G100C;ENSP00000411602:G59C;ENSP00000391262:G100C;ENSP00000403645:G64C	ENSP00000332721:G59C	G	+	1	0	C22orf25	18420017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.000000	0.88501	2.568000	0.86640	0.650000	0.86243	GGC	TANGO2	-	pfam_DUF833	ENSG00000183597		0.627	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO2	HGNC	protein_coding	OTTHUMT00000318689.2	-	0	53	0	G	NM_152906		20040017	1	tier1	-	no_errors	ENST00000456048	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	20040017	G	T	20040017	3	4	51	1	0	0	0	0	1	0	0	0	2146	1000	35	3	185	3	C22orf25	22	20040017	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09		20040017	31264549	252	12333											
TRMU	55687	genome.wustl.edu	37	chr22	46751484	46751484	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccgccaccagatggcactAggtgactgacgggagggctc	8	7	14	12	2	0	3	0	2	0	1	2	4	1	4	3	4	0	2	3	4	1	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chr22:46751484A>G	ENST00000290846.4	+	9	1357	c.1017A>G	c.(1015-1017)ctA>ctG	p.L339L	TRMU_ENST00000381019.3_Splice_Site_p.L339L	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	339					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		AGATGGCACTAGGTGACTGAC	0.637											OREG0026654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													48	45	46					22																	46751484		2203	4300	6503	SO:0001630	splice_region_variant	0			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.1018+1A>G	22.37:g.46751484A>G		941	A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.L339	ENST00000290846.4	37	c.1017	CCDS14075.1	22																																																																																			TRMU	-	pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase	ENSG00000100416		0.637	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2	-	0	34	0	A	NM_018006	Silent	46751484	1	tier1	-	no_errors	ENST00000290846	ensembl	human	known	74_37	silent	28.81	42	17	SNP	1.000	G	G	46751484	A	G	46751484	5	3	51	1	0	0	0	0	0	0	1	0	16619	434	15	4	1051	4	TRMU	22	46751484	Splice_Site	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	26711467	46751484	4553082	253	12334											
CXorf59	286464	genome.wustl.edu	37	chrX	36103549	36103549	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgctccatttgagtggaAaaatgccacctggaattaat	12	12	9	8	0	0	1	0	1	0	0	1	3	1	3	3	2	3	2	3	2	4	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chrX:36103549A>T	ENST00000313548.4	+	5	721	c.535A>T	c.(535-537)Aaa>Taa	p.K179*		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	179						integral component of membrane (GO:0016021)											TTTGAGTGGAAAAATGCCACC	0.373																																																	0													88	83	84					X																	36103549		2202	4300	6502	SO:0001587	stop_gained	0			AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"chromosome X open reading frame 59"	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.535A>T	X.37:g.36103549A>T	ENSP00000324767:p.Lys179*			Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain	p.K179*	ENST00000313548.4	37	c.535	CCDS14238.1	X	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981621	0.74474	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.7	2.06	0.26882	.	0.712867	0.12424	N	0.470194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5591	6.7607	0.23538	0.3773:0.5218:0.1008:0.0	.	.	.	.	X	179	.	ENSP00000324767:K179X	K	+	1	0	CXorf59	36013470	0.859000	0.29813	0.244000	0.24202	0.099000	0.18886	0.692000	0.25482	0.266000	0.21894	0.486000	0.48141	AAA	CHDC2	-	NULL	ENSG00000176034		0.373	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDC2	HGNC	protein_coding		-	0	31	0	A	NM_173695		36103549	1	tier1	-	no_errors	ENST00000313548	ensembl	human	known	74_37	nonsense	60.00	18	27	SNP	0.512	T	T	36103549	A	T	36103549	4	4	51	1	0	0	0	0	0	1	0	0	4124	15	1	5	549	5	CXorf59	23	36103549	Nonsense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09		36103549	119167011	254	12335											
KIF4A	24137	genome.wustl.edu	37	chrX	69521774	69521774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggactcactgagaagactGttttggttgccttggatact	8	14	12	7	0	1	2	1	1	0	2	1	5	1	4	1	3	2	2	1	3	2	5			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chrX:69521774G>C	ENST00000374403.3	+	6	623	c.541G>C	c.(541-543)Gtt>Ctt	p.V181L	KIF4A_ENST00000374388.3_Missense_Mutation_p.V181L	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	181	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TGAGAAGACTGTTTTGGTTGC	0.443																																																	0													152	128	136					X																	69521774		2203	4299	6502	SO:0001583	missense	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.541G>C	X.37:g.69521774G>C	ENSP00000363524:p.Val181Leu		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V181L	ENST00000374403.3	37	c.541	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249081	0.59103	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.77620	-1.11;-1.11	5.1	5.1	0.69264	Kinesin, motor domain (4);	0.137318	0.32687	N	0.005761	D	0.84933	0.5582	M	0.89353	3.025	0.80722	D	1	B;P	0.40970	0.058;0.734	B;P	0.45428	0.151;0.48	D	0.88104	0.2821	10	0.72032	D	0.01	.	16.5735	0.84631	0.0:0.0:1.0:0.0	.	181;181	O95239;O95239-2	KIF4A_HUMAN;.	L	181	ENSP00000363509:V181L;ENSP00000363524:V181L	ENSP00000363509:V181L	V	+	1	0	KIF4A	69438499	1.000000	0.71417	0.956000	0.39512	0.661000	0.39034	9.316000	0.96319	2.115000	0.64714	0.538000	0.68166	GTT	KIF4A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000090889		0.443	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	-	0	28	0	G	NM_012310		69521774	1	tier1	-	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	C	C	69521774	G	C	69521774	3	2	51	1	0	0	0	0	1	0	0	0	8330	1377	48	5	559	5	KIF4A	23	69521774	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	33418225	69521774	85748786	255	12336											
DACH2	117154	genome.wustl.edu	37	chrX	85906159	85906159	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagagcctgatgatcttaAttctaacacaggtgagtgtc	12	12	9	8	0	3	4	1	3	2	1	4	4	3	4	1	1	2	0	1	1	2	3			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chrX:85906159A>C	ENST00000373125.4	+	4	761	c.761A>C	c.(760-762)aAt>aCt	p.N254T	DACH2_ENST00000510272.1_Missense_Mutation_p.N35T|DACH2_ENST00000373131.1_Missense_Mutation_p.N241T|DACH2_ENST00000508860.1_Missense_Mutation_p.N87T	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	254					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGATCTTAATTCTAACACA	0.463																																																	0													98	78	85					X																	85906159		2203	4300	6503	SO:0001583	missense	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.761A>C	X.37:g.85906159A>C	ENSP00000362217:p.Asn254Thr		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.N254T	ENST00000373125.4	37	c.761	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520075	0.44866	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.84660	-1.88;-1.86	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000003	D	0.83519	0.5272	L	0.42245	1.32	0.49389	D	0.999786	D;B;B	0.55605	0.972;0.383;0.138	P;B;B	0.53360	0.724;0.237;0.119	T	0.79761	-0.1667	10	0.08837	T	0.75	.	13.0694	0.59053	1.0:0.0:0.0:0.0	.	120;241;254	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	T	254;241;254;87;35;87	ENSP00000362223:N241T;ENSP00000362217:N254T	ENSP00000345134:N254T	N	+	2	0	DACH2	85792815	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	4.849000	0.62882	1.452000	0.47756	0.417000	0.27973	AAT	DACH2	-	NULL	ENSG00000126733		0.463	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0	27	0	A	NM_053281		85906159	1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	68.97	9	20	SNP	1.000	C	C	85906159	A	C	85906159	3	2	51	1	0	0	0	0	1	0	0	0	4230	101	4	4	775	4	DACH2	23	85906159	Missense_Mutation	SNP	A	TCGA-L5-A43I-01A-11D-A247-09	16384385	85906159	69364401	256	12337											
CPXCR1	53336	genome.wustl.edu	37	chrX	88009051	88009051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcccctcactgagagaatGacatcaggaaaattttgcaa	14	9	8	10	1	2	3	2	2	0	1	3	5	3	4	2	1	1	1	2	1	4	2			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chrX:88009051G>C	ENST00000276127.4	+	3	895	c.636G>C	c.(634-636)atG>atC	p.M212I	CPXCR1_ENST00000373111.1_Missense_Mutation_p.M212I	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	212							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CTGAGAGAATGACATCAGGAA	0.423																																																	0													74	60	65					X																	88009051		2203	4300	6503	SO:0001583	missense	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.636G>C	X.37:g.88009051G>C	ENSP00000276127:p.Met212Ile		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.M212I	ENST00000276127.4	37	c.636	CCDS14458.1	X	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223823	0.22457	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.20069	2.1;2.1	3.15	-0.873	0.10635	.	0.635593	0.13238	N	0.403095	T	0.10165	0.0249	N	0.24115	0.695	0.09310	N	1	B	0.19817	0.039	B	0.20184	0.028	T	0.32295	-0.9912	9	.	.	.	-0.8853	2.5411	0.04726	0.2596:0.0:0.338:0.4024	.	212	Q8N123	CPXCR_HUMAN	I	212	ENSP00000276127:M212I;ENSP00000362203:M212I	.	M	+	3	0	CPXCR1	87895707	0.001000	0.12720	0.000000	0.03702	0.920000	0.55202	-0.225000	0.09151	-0.356000	0.08187	0.594000	0.82650	ATG	CPXCR1	-	NULL	ENSG00000147183		0.423	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	-	0	39	0	G	NM_033048		88009051	1	tier1	-	no_errors	ENST00000276127	ensembl	human	known	74_37	missense	66.67	10	20	SNP	0.000	C	C	88009051	G	C	88009051	3	2	51	1	0	0	0	0	1	0	0	0	3843	1290	45	5	638	5	CPXCR1	23	88009051	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	2102892	88009051	67261509	257	12338											
ACTRT1	139741	genome.wustl.edu	37	chrX	127185454	127185454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggatgacatgtccatcTggcagtctgtatgctcccag	9	11	11	10	0	2	1	0	1	2	0	4	2	4	2	2	2	1	3	2	2	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chrX:127185454T>C	ENST00000371124.3	-	1	928	c.732A>G	c.(730-732)ccA>ccG	p.P244P		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	244						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CATGTCCATCTGGCAGTCTGT	0.522																																																	0													135	120	125					X																	127185454		2203	4300	6503	SO:0001819	synonymous_variant	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.732A>G	X.37:g.127185454T>C			Q6X7C1|Q96L10	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.P244	ENST00000371124.3	37	c.732	CCDS14611.1	X																																																																																			ACTRT1	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000123165		0.522	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1	-	0	18	0	T	NM_138289		127185454	-1	tier1	-	no_errors	ENST00000371124	ensembl	human	known	74_37	silent	80.00	6	24	SNP	0.996	C	C	127185454	T	C	127185454	2	2	51	1	0	0	0	0	0	0	0	1	218	1567	55	4		4	ACTRT1	23	127185454	Silent	SNP	T	TCGA-L5-A43I-01A-11D-A247-09	39176403	127185454	28085106	258	12339											
GPR112	139378	genome.wustl.edu	37	chrX	135428495	135428495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagacgaatcagcacaaaGggtgacagcttctgtcactg	13	7	11	10	1	3	2	2	1	1	1	3	4	3	2	0	1	2	2	0	1	2	1			TCGA-L5-A43I-01A-11D-A247-09	TCGA-L5-A43I-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	635a8384-40d5-4c35-9158-dae828f2e500	93b3f33a-3f0b-4e16-9f0f-16370129bfe6	g.chrX:135428495G>T	ENST00000394143.1	+	6	2921	c.2630G>T	c.(2629-2631)aGg>aTg	p.R877M	GPR112_ENST00000394141.1_Missense_Mutation_p.R672M|GPR112_ENST00000370652.1_Missense_Mutation_p.R877M|GPR112_ENST00000287534.4_Missense_Mutation_p.R814M|GPR112_ENST00000412101.1_Missense_Mutation_p.R672M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	877					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGCACAAAGGGTGACAGCT	0.413																																																	0													133	125	128					X																	135428495		2203	4300	6503	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2630G>T	X.37:g.135428495G>T	ENSP00000377699:p.Arg877Met		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R877M	ENST00000394143.1	37	c.2630	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.191662	0.00026	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27557	1.7;1.7;1.66;1.81;1.66	2.09	-0.562	0.11781	.	.	.	.	.	T	0.07279	0.0184	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31503	-0.9941	9	0.02654	T	1	.	3.7183	0.08446	0.0:0.1599:0.4706:0.3695	.	814;672;877	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	877;877;672;814;672	ENSP00000377699:R877M;ENSP00000359686:R877M;ENSP00000416526:R672M;ENSP00000287534:R814M;ENSP00000377697:R672M	ENSP00000287534:R814M	R	+	2	0	GPR112	135256161	0.016000	0.18221	0.136000	0.22124	0.200000	0.23975	-0.481000	0.06552	-0.654000	0.05394	-0.932000	0.02703	AGG	GPR112	-	NULL	ENSG00000156920		0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1		0	22	0	G			135428495	1			no_errors	ENST00000370652	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.272	T	T	135428495	G	T	135428495	3	4	51	1	0	0	0	0	1	0	0	0	6655	1000	35	3	2640	3	GPR112	23	135428495	Missense_Mutation	SNP	G	TCGA-L5-A43I-01A-11D-A247-09	8243041	135428495	19842065	259	12340											
NOC2L	26155	genome.wustl.edu	37	chr1	889215	889215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcagggcaccagcaCgctgatgtgccgcagcacgg	10	3	15	13	3	0	1	0	1	0	0	0	2	0	2	2	3	4	6	2	3	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:889215C>T	ENST00000327044.6	-	8	884	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	279					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCACCAGCACGCTGATGTGC	0.652																																																	0													37	40	39					1																	889215		2203	4300	6503	SO:0001583	missense	0			AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12"	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.835G>A	1.37:g.889215C>T	ENSP00000317992:p.Val279Met		Q5SVA3|Q9BTN6	Missense_Mutation	SNP	pfam_Noc2,superfamily_ARM-type_fold	p.V279M	ENST00000327044.6	37	c.835	CCDS3.1	1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593088	0.28357	.	.	ENSG00000188976	ENST00000327044	T	0.67345	-0.26	4.28	0.609	0.17575	Armadillo-type fold (1);	0.744477	0.13381	N	0.392118	T	0.47930	0.1472	L	0.43152	1.355	0.09310	N	1	D;D;P	0.54772	0.968;0.968;0.89	B;B;B	0.38056	0.264;0.264;0.206	T	0.39623	-0.9605	10	0.34782	T	0.22	-5.5455	3.9746	0.09468	0.1717:0.3267:0.0:0.5016	.	279;279;46	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	M	279	ENSP00000317992:V279M	ENSP00000317992:V279M	V	-	1	0	NOC2L	879078	0.001000	0.12720	0.082000	0.20525	0.381000	0.30169	-0.324000	0.07986	0.221000	0.20879	0.305000	0.20034	GTG	NOC2L	-	superfamily_ARM-type_fold	ENSG00000188976		0.652	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC2L	HGNC	protein_coding	OTTHUMT00000097869.1	-	0	24	0	C	NM_015658		889215	-1	tier1	-	no_errors	ENST00000327044	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.008	T	T	889215	C	T	889215	3	4	52	1	0	0	0	0	1	0	0	0	10552	536	19	1	1462	1	NOC2L	1	889215	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		889215	248361406	1	12341											
CPSF3L	54973	genome.wustl.edu	37	chr1	1248015	1248015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccccagcgagatgcctaCggggatgctggggcttgtgg	6	7	17	11	2	0	1	0	0	0	1	0	3	0	2	3	5	5	2	3	5	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:1248015C>T	ENST00000435064.1	-	13	1442	c.1360G>A	c.(1360-1362)Gta>Ata	p.V454I	CPSF3L_ENST00000450926.2_Missense_Mutation_p.V432I|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000421495.2_Missense_Mutation_p.V196I|CPSF3L_ENST00000419704.1_Missense_Mutation_p.V353I|CPSF3L_ENST00000545578.1_Missense_Mutation_p.V425I|CPSF3L_ENST00000540437.1_Missense_Mutation_p.V460I|CPSF3L_ENST00000411962.1_Missense_Mutation_p.V356I	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	454					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GAGATGCCTACGGGGATGCTG	0.711																																																	0													32	35	34					1																	1248015		2200	4293	6493	SO:0001583	missense	0			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"integrator complex subunit 11"	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.1360G>A	1.37:g.1248015C>T	ENSP00000413493:p.Val454Ile		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.V460I	ENST00000435064.1	37	c.1378	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317930	0.23994	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578	T;T;T;T	0.49720	0.81;0.8;0.77;0.81	5.05	5.05	0.67936	.	0.061436	0.64402	D	0.000004	T	0.32285	0.0824	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B	0.31290	0.037;0.022;0.213;0.318;0.037;0.022	B;B;B;B;B;B	0.24541	0.031;0.014;0.011;0.054;0.031;0.014	T	0.11108	-1.0601	10	0.18710	T	0.47	-29.1828	16.1799	0.81890	0.0:1.0:0.0:0.0	.	432;425;356;353;460;454	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	I	454;356;353;460;432;425	ENSP00000413493:V454I;ENSP00000445001:V460I;ENSP00000392848:V432I;ENSP00000444672:V425I	ENSP00000400548:V356I	V	-	1	0	CPSF3L	1237878	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	6.510000	0.73729	2.349000	0.79799	0.462000	0.41574	GTA	CPSF3L	-	NULL	ENSG00000127054		0.711	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	-	0	28	0	C	NM_017871		1248015	-1	tier1	-	no_errors	ENST00000540437	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	T	T	1248015	C	T	1248015	3	4	52	1	0	0	0	0	1	0	0	0	3834	536	19	1	462	1	CPSF3L	1	1248015	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	358800	1248015	248002606	2	12342											
MEGF6	1953	genome.wustl.edu	37	chr1	3519090	3519090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttccacaccggcaccGtgtggcttaaggcctgcacg	6	7	12	16	4	0	0	0	0	0	0	1	0	1	0	5	4	1	3	5	4	1	2	rs373558942		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:3519090G>A	ENST00000356575.4	-	2	432	c.206C>T	c.(205-207)aCg>aTg	p.T69M		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	69	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T69M(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CACCGGCACCGTGTGGCTTAA	0.682																																					Ovarian(73;978 3658)												1	Substitution - Missense(1)	large_intestine(1)						G	MET/THR	0,4256		0,0,2128	22	29	27		206	-8.9	0	1		27	2,8438		0,2,4218	no	missense	MEGF6	NM_001409.3	81	0,2,6346	AA,AG,GG		0.0237,0.0,0.0158	benign	69/1542	3519090	2,12694	2128	4220	6348	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.206C>T	1.37:g.3519090G>A	ENSP00000348982:p.Thr69Met		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.T69M	ENST00000356575.4	37	c.206	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199504	0.06219	0.0	2.37E-4	ENSG00000162591	ENST00000356575	D	0.84730	-1.89	4.44	-8.88	0.00789	EMI domain (1);	0.603848	0.13551	N	0.379512	T	0.67373	0.2886	N	0.12569	0.235	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.40079	-0.9582	10	0.31617	T	0.26	4.4674	15.3134	0.74053	0.8531:0.0:0.1469:0.0	.	69	O75095	MEGF6_HUMAN	M	69	ENSP00000348982:T69M	ENSP00000348982:T69M	T	-	2	0	MEGF6	3508950	0.070000	0.21116	0.000000	0.03702	0.062000	0.15995	1.588000	0.36633	-2.156000	0.00790	-1.907000	0.00523	ACG	MEGF6	-	pfscan_EMI_domain	ENSG00000162591		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0	84	0	G	NM_001409		3519090	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	23.30	79	24	SNP	0.051	A	A	3519090	G	A	3519090	3	1	52	1	0	0	0	0	1	0	0	0	9500	1145	40	1	4563	1	MEGF6	1	3519090	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2271075	3519090	245731531	3	12343											
GPR153	387509	genome.wustl.edu	37	chr1	6311533	6311533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacggagcaccacagcaCgcagagtgccatccagggcg	10	2	14	15	3	0	1	0	0	0	1	1	2	1	2	4	3	3	3	4	3	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:6311533C>T	ENST00000377893.2	-	4	1103	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V282M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CACCACAGCACGCAGAGTGCC	0.692																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											43	41	42					1																	6311533		2203	4299	6502	SO:0001583	missense	0			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.844G>A	1.37:g.6311533C>T	ENSP00000367125:p.Val282Met		Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162	p.V282M	ENST00000377893.2	37	c.844	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623409	0.66901	.	.	ENSG00000158292	ENST00000377893	T	0.72505	-0.66	5.45	4.34	0.51931	.	0.059556	0.64402	D	0.000003	T	0.52613	0.1745	N	0.19112	0.55	0.46167	D	0.998901	P	0.51057	0.941	B	0.40134	0.32	T	0.58284	-0.7663	10	0.54805	T	0.06	-50.4604	9.9183	0.41448	0.0:0.764:0.1466:0.0894	.	282	Q6NV75	GP153_HUMAN	M	282	ENSP00000367125:V282M	ENSP00000367125:V282M	V	-	1	0	GPR153	6234120	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.998000	0.57024	2.561000	0.86390	0.643000	0.83706	GTG	GPR153	-	pfam_GPCR_Rhodpsn,prints_GCR_153/162	ENSG00000158292		0.692	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	-	0	16	0	C			6311533	-1	tier1	-	no_errors	ENST00000377893	ensembl	human	known	74_37	missense	41.94	18	13	SNP	0.930	T	T	6311533	C	T	6311533	3	4	52	1	0	0	0	0	1	0	0	0	6685	536	19	1	997	1	GPR153	1	6311533	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2792443	6311533	242939088	4	12344											
THAP3	55735	genome.wustl.edu	37	chr1	6694120	6694120	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggaaccccagcttcacGtgaagccttgtggttgagtg	10	10	12	9	1	1	2	1	2	0	0	1	3	1	3	3	2	3	2	3	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:6694120G>A	ENST00000377577.5	-	0	3311				DNAJC11_ENST00000465508.1_5'Flank|THAP3_ENST00000377627.3_Missense_Mutation_p.R167H	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCTTCACGTGAAGCCTTG	0.463																																																	0													81	82	82					1																	6694120		2203	4300	6503	SO:0001628	intergenic_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443		1.37:g.6694120G>A			Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.R167H	ENST00000377577.5	37	c.500	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566936	0.28003	.	.	ENSG00000041988	ENST00000377627	D	0.97114	-4.25	2.63	-5.26	0.02772	.	.	.	.	.	D	0.91482	0.7311	.	.	.	0.09310	N	1	B	0.28026	0.198	B	0.26517	0.07	T	0.82920	-0.0218	8	0.66056	D	0.02	.	1.4161	0.02302	0.1235:0.3192:0.2366:0.3207	.	167	Q8WTV1-4	.	H	167	ENSP00000366854:R167H	ENSP00000366854:R167H	R	+	2	0	THAP3	6616707	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.637000	0.05459	-0.824000	0.04295	0.462000	0.41574	CGT	THAP3	-	NULL	ENSG00000041988		0.463	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP3	HGNC	protein_coding	OTTHUMT00000004216.3		0	28	0	G	NM_018198		6694120	1			no_errors	ENST00000377627	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	A	A	6694120	G	A	6694120	1	1	52	0	1	0	0	0	0	0	0	0	15892	1145	40	1		1	THAP3	1	6694120	IGR	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	382587	6694120	242556501	5	12345											
PER3	8863	genome.wustl.edu	37	chr1	7846785	7846785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtgtttcttagcaaaCagtgagtttttccagattct	8	17	7	9	0	2	2	0	1	2	1	4	2	4	2	2	0	2	3	2	0	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:7846785C>T	ENST00000361923.2	+	3	454	c.279C>T	c.(277-279)aaC>aaT	p.N93N	PER3_ENST00000377532.3_Silent_p.N93N|PER3_ENST00000377541.1_Silent_p.N93N	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	93					circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTAGCAAACAGTGAGTTTT	0.428																																																	0													119	109	112					1																	7846785		2203	4300	6503	SO:0001819	synonymous_variant	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.279C>T	1.37:g.7846785C>T			Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.N93	ENST00000361923.2	37	c.279	CCDS89.1	1																																																																																			PER3	-	NULL	ENSG00000049246		0.428	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0	51	0	C	NM_016831		7846785	1	tier1	-	no_errors	ENST00000361923	ensembl	human	known	74_37	silent	22.58	48	14	SNP	1.000	T	T	7846785	C	T	7846785	2	4	52	1	0	0	0	0	0	0	0	1	11770	477	17	3		3	PER3	1	7846785	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1152665	7846785	241403836	6	12346											
ENO1	2023	genome.wustl.edu	37	chr1	8928104	8928104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatcttctcttgttctgTgacgttcagtttctacgagg	6	17	9	9	2	6	1	2	1	4	0	7	2	6	1	0	1	1	3	0	1	2	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:8928104T>C	ENST00000234590.4	-	5	372	c.253A>G	c.(253-255)Aca>Gca	p.T85A		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	85					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTGTTCTGTGACGTTCAGT	0.473																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													378	366	370					1																	8928104		2203	4300	6503	SO:0001583	missense	0			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.253A>G	1.37:g.8928104T>C	ENSP00000234590:p.Thr85Ala		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.T85A	ENST00000234590.4	37	c.253	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	T	6.573	0.473956	0.12521	.	.	ENSG00000074800	ENST00000234590	T	0.30182	1.54	5.93	3.07	0.35406	Enolase, N-terminal (1);	0.550760	0.18997	N	0.125444	T	0.25827	0.0629	L	0.42529	1.33	0.21697	N	0.999585	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19031	-1.0318	10	0.54805	T	0.06	-14.1382	10.1584	0.42836	0.0:0.7852:0.0:0.2148	.	52;85	A4UCS8;P06733	.;ENOA_HUMAN	A	85	ENSP00000234590:T85A	ENSP00000234590:T85A	T	-	1	0	ENO1	8850691	0.030000	0.19436	0.247000	0.24249	0.008000	0.06430	0.352000	0.20113	0.410000	0.25675	-0.912000	0.02778	ACA	ENO1	-	pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase	ENSG00000074800		0.473	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	0	41	0	T	NM_001428		8928104	-1	tier1	-	no_errors	ENST00000234590	ensembl	human	known	74_37	missense	61.22	19	30	SNP	0.442	C	C	8928104	T	C	8928104	3	2	52	1	0	0	0	0	1	0	0	0	5137	1696	59	4	1083	4	ENO1	1	8928104	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1081319	8928104	240322517	7	12347											
CLSTN1	22883	genome.wustl.edu	37	chr1	9795218	9795219	+	Frame_Shift_Ins	INS	-	-	C																															ggggaccgaaatgcaggtggINScctcgttaaaacacctgcca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:9795218_9795219insC	ENST00000377298.4	-	14	2689_2690	c.1897_1898insG	c.(1897-1899)gccfs	p.A633fs	CLSTN1_ENST00000361311.4_Frame_Shift_Ins_p.A623fs|CLSTN1_ENST00000377288.3_Frame_Shift_Ins_p.A614fs|CLSTN1_ENST00000477264.1_5'Flank	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	633					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		AATGCAGGTGGCCTCGTTAAAA	0.579																																																	0																																										SO:0001589	frameshift_variant	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1898dupG	1.37:g.9795220_9795220dupC	ENSP00000366513:p.Ala633fs		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A633fs	ENST00000377298.4	37	c.1898_1897	CCDS30580.1	1																																																																																			CLSTN1	-	NULL	ENSG00000171603		0.579	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1		0	39	0	-			9795219	-1	tier1		no_errors	ENST00000377298	ensembl	human	known	74_37	frame_shift_ins	17.07	34	7	INS	0.989:1.000	C	C	9795219	-	C	9795218	7	5	52	1	0	1	1	0	0	0	0	0	3568	1203	42	0	1071	0	CLSTN1	1	9795218	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	867114	9795218	239455403	8	12348											
CASZ1	54897	genome.wustl.edu	37	chr1	10725151	10725151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccacctgaagcctgcCtggtgctggggccgctgtcc	4	7	14	16	1	0	1	0	1	0	0	1	1	1	1	6	4	3	3	6	4	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:10725151C>A	ENST00000377022.3	-	5	811	c.494G>T	c.(493-495)aGg>aTg	p.R165M	CASZ1_ENST00000478728.2_5'UTR|CASZ1_ENST00000344008.5_Missense_Mutation_p.R165M	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	165					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGAAGCCTGCCTGGTGCTGGG	0.672																																																	0													30	27	28					1																	10725151		2203	4299	6502	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.494G>T	1.37:g.10725151C>A	ENSP00000366221:p.Arg165Met		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R165M	ENST00000377022.3	37	c.494	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	c	10.57	1.387468	0.25031	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	0.558	0.17266	.	1.253650	0.05264	N	0.516323	T	0.31765	0.0807	N	0.14661	0.345	0.21020	N	0.999803	P;P;P	0.52692	0.955;0.564;0.589	P;B;B	0.50440	0.641;0.393;0.24	T	0.33240	-0.9876	9	0.72032	D	0.01	-11.7093	7.9463	0.29989	0.0:0.2667:0.0:0.7333	.	189;165;165	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	M	165	.	ENSP00000339445:R165M	R	-	2	0	CASZ1	10647738	0.914000	0.31030	0.809000	0.32408	0.009000	0.06853	-0.013000	0.12678	-0.099000	0.12263	-1.560000	0.00886	AGG	CASZ1	-	NULL	ENSG00000130940		0.672	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	33	0	C	NM_017766		10725151	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.974	A	A	10725151	C	A	10725151	3	1	52	1	0	0	0	0	1	0	0	0	2692	681	24	3	4857	3	CASZ1	1	10725151	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	929933	10725151	238525470	9	12349											
C1orf127	148345	genome.wustl.edu	37	chr1	11008750	11008750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggctccgaggggagcGtggctggaggtgtggggtgt	5	8	21	7	2	0	0	0	0	0	0	1	3	1	2	1	8	2	2	1	8	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:11008750G>A	ENST00000377008.4	-	11	1387	c.941C>T	c.(940-942)aCg>aTg	p.T314M	C1orf127_ENST00000377004.4_Missense_Mutation_p.T481M			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	314	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CGAGGGGAGCGTGGCTGGAGG	0.662																																																	0													41	47	45					1																	11008750		2203	4300	6503	SO:0001583	missense	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.941C>T	1.37:g.11008750G>A	ENSP00000366207:p.Thr314Met		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.T481M	ENST00000377008.4	37	c.1442		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.168344|2.168344	0.38315|0.38315	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.32515	.|1.45;1.45	4.67|4.67	-0.493|-0.493	0.12038|0.12038	.|.	.|0.891435	.|0.09430	.|N	.|0.803224	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.42961	.|0.795;0.795;0.795	.|B;B;B	.|0.27608	.|0.081;0.081;0.081	T|T	0.14364|0.14364	-1.0475|-1.0475	5|10	.|0.52906	.|T	.|0.07	0.1216|0.1216	6.8546|6.8546	0.24034|0.24034	0.5379:0.0:0.4621:0.0|0.5379:0.0:0.4621:0.0	.|.	.|332;306;314	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	C|M	316;433|481;314	.|ENSP00000366203:T481M;ENSP00000366207:T314M	.|ENSP00000366203:T481M	R|T	-|-	1|2	0|0	C1orf127|C1orf127	10931337|10931337	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.013000|0.013000	0.13310|0.13310	0.082000|0.082000	0.17018|0.17018	-0.339000|-0.339000	0.08088|0.08088	CGC|ACG	C1orf127	-	NULL	ENSG00000175262		0.662	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		-	0	50	0	G	NM_173507		11008750	-1	tier1	-	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	16.22	62	12	SNP	0.000	A	A	11008750	G	A	11008750	3	1	52	1	0	0	0	0	1	0	0	0	2001	1145	40	1	1033	1	C1orf127	1	11008750	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	283599	11008750	238241871	10	12350											
CLCNKB	1188	genome.wustl.edu	37	chr1	16375608	16375608	+	Intron	DEL	C	C	-																															cccacctgagatcagtgtcgCccccaggcgtcctgttcagc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:16375608delC	ENST00000375679.4	+	8	766				CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.P49fs	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATCAGTGTCGCCCCCAGGCGT	0.617																																																	0													84	85	85					1																	16375608		2203	4300	6503	SO:0001627	intron_variant	0			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"Ion channels / Chloride channels : Voltage-sensitive"	2027	protein-coding gene	gene with protein product		602023	"chloride channel Kb"				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.656-7C>-	1.37:g.16375608delC			B3KUY3|Q5T5Q7|Q5T5Q8	Frame_Shift_Del	DEL	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated	p.P49fs	ENST00000375679.4	37	c.142	CCDS168.1	1																																																																																			CLCNKB	-	NULL	ENSG00000184908		0.617	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1		0	60	0	C	NM_000085		16375608	1	tier1		no_errors	ENST00000375667	ensembl	human	known	74_37	frame_shift_del	66.67	24	48	DEL	0.851	-	-	16375608	C	-	16375608	6	5	52	0	1	1	0	1	0	0	0	0	3477	739	26	0		0	CLCNKB	1	16375608	Intron	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	5366858	16375608	232875013	11	12351											
UBR4	23352	genome.wustl.edu	37	chr1	19441999	19441999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtctctgtggaggcCtggtagttttcatagaagtc	7	13	14	7	0	2	1	1	0	1	1	4	2	2	2	1	4	1	3	1	4	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:19441999C>A	ENST00000375254.3	-	74	10983	c.10956G>T	c.(10954-10956)caG>caT	p.Q3652H	UBR4_ENST00000375218.3_Missense_Mutation_p.Q67H|UBR4_ENST00000375267.2_Missense_Mutation_p.Q3652H|UBR4_ENST00000375217.2_Missense_Mutation_p.Q3645H|UBR4_ENST00000375226.2_Missense_Mutation_p.Q3628H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3652					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGTGGAGGCCTGGTAGTTTT	0.547																																																	0													110	111	111					1																	19441999		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10956G>T	1.37:g.19441999C>A	ENSP00000364403:p.Gln3652His		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Q3652H	ENST00000375254.3	37	c.10956	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257936	0.39896	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.26957	1.7;1.7;1.73;1.73	5.69	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.39009	0.1062	L	0.46157	1.445	0.80722	D	1	B;D	0.57571	0.002;0.98	B;D	0.66979	0.006;0.948	T	0.08166	-1.0735	10	0.38643	T	0.18	.	10.797	0.46466	0.0:0.8457:0.0:0.1543	.	67;3652	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	H	3652;3652;3645;3628;67	ENSP00000364403:Q3652H;ENSP00000364416:Q3652H;ENSP00000364365:Q3645H;ENSP00000364374:Q3628H	ENSP00000364365:Q3645H	Q	-	3	2	UBR4	19314586	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.480000	0.45206	1.415000	0.47037	0.655000	0.94253	CAG	UBR4	-	NULL	ENSG00000127481		0.547	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	28	0	C	NM_020765		19441999	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	64.29	15	27	SNP	1.000	A	A	19441999	C	A	19441999	3	1	52	1	0	0	0	0	1	0	0	0	16953	680	24	3	4727	3	UBR4	1	19441999	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3066391	19441999	229808622	12	12352											
PINK1	65018	genome.wustl.edu	37	chr1	20977076	20977076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaacaggctcacagaGaagtgttgtgtggaaacaaa	14	8	12	7	0	1	1	1	0	0	1	1	3	1	2	1	3	2	2	1	3	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:20977076G>T	ENST00000321556.4	+	8	1732	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	546					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCTCACAGAGAAGTGTTGTG	0.512																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0													81	73	76					1																	20977076		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1638G>T	1.37:g.20977076G>T	ENSP00000364204:p.Glu546Asp		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E546D	ENST00000321556.4	37	c.1638	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956084	0.53293	.	.	ENSG00000158828	ENST00000321556	T	0.74421	-0.84	5.79	5.79	0.91817	.	0.403752	0.28515	N	0.015067	T	0.64832	0.2634	L	0.35414	1.06	0.36647	D	0.877188	B;B	0.14012	0.002;0.009	B;B	0.12156	0.006;0.007	T	0.62666	-0.6806	10	0.23302	T	0.38	-16.447	15.5333	0.75980	0.0:0.0:1.0:0.0	.	239;546	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	D	546	ENSP00000364204:E546D	ENSP00000364204:E546D	E	+	3	2	PINK1	20849663	0.998000	0.40836	0.997000	0.53966	0.965000	0.64279	1.046000	0.30354	2.749000	0.94314	0.491000	0.48974	GAG	PINK1	-	NULL	ENSG00000158828		0.512	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0	26	0	G	NM_032409		20977076	1	tier1	-	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	65.62	11	21	SNP	1.000	T	T	20977076	G	T	20977076	3	4	52	1	0	0	0	0	1	0	0	0	11971	933	33	3	1668	3	PINK1	1	20977076	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1535077	20977076	228273545	13	12353											
EPHA8	2046	genome.wustl.edu	37	chr1	22903132	22903133	+	Frame_Shift_Ins	INS	-	-	CT																															taggtgcctgcctggccatcINSctctctctccgcatctacta																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:22903132_22903133insCT	ENST00000166244.3	+	3	654_655	c.582_583insCT	c.(583-585)ctcfs	p.L195fs	EPHA8_ENST00000374644.4_Frame_Shift_Ins_p.L195fs|EPHA8_ENST00000538803.1_Frame_Shift_Ins_p.L195fs	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	195	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTGGCCATCCTCTCTCTCCG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.589_590dupCT	1.37:g.22903139_22903140dupCT	ENSP00000166244:p.Leu195fs		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Frame_Shift_Ins	INS	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R197fs	ENST00000166244.3	37	c.582_583	CCDS225.1	1																																																																																			EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000070886		0.624	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1		0	49	0	-	NM_020526		22903133	1	tier1		no_errors	ENST00000166244	ensembl	human	known	74_37	frame_shift_ins	20.31	51	13	INS	1.000:1.000	CT	CT	22903133	-	CT	22903132	7	5	52	1	0	1	1	0	0	0	0	0	5189	845	30	0	592	0	EPHA8	1	22903132	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	1926056	22903132	226347489	14	12354											
PTPRU	10076	genome.wustl.edu	37	chr1	29641996	29641996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagactctctgctcccggCgtgtcaacatgatccagact	9	10	9	13	2	2	4	1	2	1	2	5	4	4	4	2	1	2	1	2	1	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:29641996C>A	ENST00000345512.3	+	24	3499	c.3370C>A	c.(3370-3372)Cgt>Agt	p.R1124S	PTPRU_ENST00000428026.2_Missense_Mutation_p.R1111S|PTPRU_ENST00000356870.3_Missense_Mutation_p.R1120S|PTPRU_ENST00000460170.2_Missense_Mutation_p.R1120S|PTPRU_ENST00000323874.8_Missense_Mutation_p.R1120S|PTPRU_ENST00000373779.3_Missense_Mutation_p.R1114S	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1124	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGCTCCCGGCGTGTCAACAT	0.557																																																	0													129	120	123					1																	29641996		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3370C>A	1.37:g.29641996C>A	ENSP00000334941:p.Arg1124Ser		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R1124S	ENST00000345512.3	37	c.3370	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782940	0.70222	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	4.66	3.73	0.42828	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.90642	0.7065	H	0.99705	4.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.93235	0.6621	9	.	.	.	.	12.1253	0.53913	0.3275:0.6725:0.0:0.0	.	1111;1120;1114;1120;1124	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	S	1124;1114;1120;1120;1111;1120	ENSP00000334941:R1124S;ENSP00000362884:R1114S;ENSP00000349333:R1120S;ENSP00000314987:R1120S;ENSP00000392332:R1111S;ENSP00000432906:R1120S	.	R	+	1	0	PTPRU	29514583	1.000000	0.71417	0.866000	0.34008	0.910000	0.53928	3.678000	0.54627	1.292000	0.44672	0.561000	0.74099	CGT	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000060656		0.557	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0	48	0	C			29641996	1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	68.97	18	40	SNP	0.998	A	A	29641996	C	A	29641996	3	1	52	1	0	0	0	0	1	0	0	0	12858	768	27	2	3486	2	PTPRU	1	29641996	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6738864	29641996	219608625	15	12355											
ADC	113451	genome.wustl.edu	37	chr1	33562406	33562406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctactacgtgacctcggcCttcactgtggcagtcagcat	7	10	10	14	3	2	1	2	1	0	0	3	1	2	1	2	2	3	3	2	2	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:33562406C>T	ENST00000294517.6	+	9	1439	c.852C>T	c.(850-852)gcC>gcT	p.A284A	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Silent_p.A284A|ADC_ENST00000373441.1_Silent_p.A284A|ADC_ENST00000358680.3_Silent_p.A126A|ADC_ENST00000373440.1_Silent_p.A126A|ADC_ENST00000398167.1_Silent_p.A284A	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		284					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TGACCTCGGCCTTCACTGTGG	0.592																																																	0													156	129	138					1																	33562406		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000294517.6:c.852C>T	1.37:g.33562406C>T			B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.A284	ENST00000294517.6	37	c.852	CCDS375.1	1																																																																																			ADC	-	superfamily_Ala_racemase/Decarboxylase_C,prints_Orn/DAP/Arg_de-COase	ENSG00000142920		0.592	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	-	0	36	0	C			33562406	1	tier1	-	no_errors	ENST00000373441	ensembl	human	known	74_37	silent	37.63	58	35	SNP	0.998	T	T	33562406	C	T	33562406	2	4	52	1	0	0	0	0	0	0	0	1	287	668	24	3		3	ADC	1	33562406	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3920410	33562406	215688215	16	12356											
ZMYM4	9202	genome.wustl.edu	37	chr1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A																															gtttgtcaacatatgaactgINSaaaaaaaaacctattgttac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.P430fs	ENST00000314607.6	37	c.1281_1282	CCDS389.1	1																																																																																			ZMYM4	-	NULL	ENSG00000146463		0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3		0	27	0	-	NM_005095		35846960	1	tier1		no_errors	ENST00000314607	ensembl	human	known	74_37	frame_shift_ins	27.27	32	12	INS	0.987:1.000	A	A	35846960	-	A	35846959	7	5	52	1	0	1	1	0	0	0	0	0	17750	1277	45	0	1311	0	ZMYM4	1	35846959	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	2284553	35846959	213403662	17	12357											
MAP7D1	55700	genome.wustl.edu	37	chr1	36642154	36642154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgggggcagccccgctcCggtgcgccgccggccggagg	2	2	19	18	8	0	0	0	0	0	0	1	1	1	1	7	6	2	2	7	6	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:36642154C>T	ENST00000373151.2	+	7	1421	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.P370L|MAP7D1_ENST00000373148.4_5'Flank|MAP7D1_ENST00000316156.4_Missense_Mutation_p.P365L	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	402					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCCCCGCTCCGGTGCGCCGC	0.781																																																	0																																										SO:0001583	missense	0			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1205C>T	1.37:g.36642154C>T	ENSP00000362244:p.Pro402Leu		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	pfam_MAP7	p.P402L	ENST00000373151.2	37	c.1205	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798982	0.50208	.	.	ENSG00000116871	ENST00000316156;ENST00000373150;ENST00000373151	T;T;T	0.07567	3.67;3.18;3.67	5.51	-6.05	0.02172	.	1.963970	0.02771	N	0.119722	T	0.03871	0.0109	N	0.08118	0	0.09310	N	0.999999	B;B;B;B	0.16166	0.016;0.0;0.006;0.016	B;B;B;B	0.08055	0.001;0.0;0.002;0.003	T	0.38067	-0.9678	10	0.17369	T	0.5	1.5297	7.5355	0.27708	0.2197:0.1596:0.0:0.6207	.	402;365;370;402	D3DPS3;Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;.;MA7D1_HUMAN	L	365;370;402	ENSP00000320228:P365L;ENSP00000362243:P370L;ENSP00000362244:P402L	ENSP00000320228:P365L	P	+	2	0	MAP7D1	36414741	0.000000	0.05858	0.000000	0.03702	0.323000	0.28346	0.020000	0.13466	-1.485000	0.01854	-0.127000	0.14921	CCG	MAP7D1	-	NULL	ENSG00000116871		0.781	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	-	0	22	0	C	NM_018067		36642154	1	tier1	-	no_errors	ENST00000373151	ensembl	human	known	74_37	missense	64.29	10	18	SNP	0.000	T	T	36642154	C	T	36642154	3	4	52	1	0	0	0	0	1	0	0	0	9305	652	23	1	1231	1	MAP7D1	1	36642154	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	795195	36642154	212608467	18	12358											
MACF1	23499	genome.wustl.edu	37	chr1	39789902	39789902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacaagaacatgtggagaAggttaaagaacttttgggct	16	9	12	4	0	0	3	0	0	0	3	0	5	0	3	0	3	3	2	0	3	7	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:39789902A>G	ENST00000372915.3	+	33	4376	c.4289A>G	c.(4288-4290)aAg>aGg	p.K1430R	MACF1_ENST00000361689.2_Missense_Mutation_p.K1430R|MACF1_ENST00000567887.1_Missense_Mutation_p.K1462R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Missense_Mutation_p.K1430R|MACF1_ENST00000317713.7_Missense_Mutation_p.K1430R|MACF1_ENST00000545844.1_Missense_Mutation_p.K1430R|MACF1_ENST00000564288.1_Missense_Mutation_p.K1425R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1430					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATGTGGAGAAGGTTAAAGAA	0.403																																																	0													96	92	93					1																	39789902		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4289A>G	1.37:g.39789902A>G	ENSP00000362006:p.Lys1430Arg		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.K1430R	ENST00000372915.3	37	c.4289		1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.191671	0.78902	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262	T;T;T;T;T;T	0.65364	-0.12;-0.14;-0.12;-0.15;0.02;1.93	6.16	6.16	0.99307	.	.	.	.	.	T	0.71600	0.3359	L	0.41710	1.295	0.80722	D	1	D;P;P	0.76494	0.999;0.499;0.552	D;B;B	0.67725	0.953;0.112;0.36	T	0.71178	-0.4669	9	0.45353	T	0.12	.	16.4675	0.84087	1.0:0.0:0.0:0.0	.	1430;1430;1395	F8W8Q1;Q9UPN3-2;Q9UPN3-3	.;.;.	R	1430;1430;1430;1430;1430;1579	ENSP00000439537:K1430R;ENSP00000362006:K1430R;ENSP00000354573:K1430R;ENSP00000313438:K1430R;ENSP00000444364:K1430R;ENSP00000437059:K1579R	ENSP00000313438:K1430R	K	+	2	0	MACF1	39562489	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.387000	0.73191	2.367000	0.80283	0.528000	0.53228	AAG	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	43	0	A	NM_033044		39789902	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	34.09	29	15	SNP	1.000	G	G	39789902	A	G	39789902	3	3	52	1	0	0	0	0	1	0	0	0	9180	72	3	4	4419	4	MACF1	1	39789902	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3147748	39789902	209460719	19	12359											
KCNQ4	9132	genome.wustl.edu	37	chr1	41282938	41282938	+	Splice_Site	DEL	T	T	-																															cctcatgttgtaattgcagaTttttgctggtcttcagctgc																								rs189892658	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:41282938delT	ENST00000347132.5	+	2	398	c.316delT	c.(316-318)ttt>tt	p.F106fs	KCNQ4_ENST00000509682.2_Splice_Site_p.F106fs	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	106					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	TAATTGCAGATTTTTGCTGGT	0.532																																																	0													101	95	97					1																	41282938		2203	4300	6503	SO:0001630	splice_region_variant	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.315-1T>-	1.37:g.41282938delT			O96025	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L107fs	ENST00000347132.5	37	c.316	CCDS456.1	1																																																																																			KCNQ4	-	NULL	ENSG00000117013		0.532	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1		0	73	0	T	NM_004700	Frame_Shift_Del	41282938	1	tier1		no_errors	ENST00000347132	ensembl	human	known	74_37	frame_shift_del	58.10	44	61	DEL	1.000	-	-	41282938	T	-	41282938	8	5	52	1	0	1	0	1	0	0	1	0	8112	1507	52	0	322	0	KCNQ4	1	41282938	Splice_Site	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	1493036	41282938	207967683	20	12360											
PTPRF	5792	genome.wustl.edu	37	chr1	44054632	44054632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtggccatctcctcgCtgggcatgatcgaggccaca	6	9	12	14	2	1	1	0	1	1	0	4	2	1	1	4	3	0	2	4	3	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:44054632C>T	ENST00000359947.4	+	8	1250	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	PTPRF_ENST00000422171.2_5'Flank|PTPRF_ENST00000438120.1_Silent_p.L304L|PTPRF_ENST00000372413.3_Silent_p.L304L|PTPRF_ENST00000372414.3_Silent_p.L304L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	304	Ig-like C2-type 3.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATCTCCTCGCTGGGCATGAT	0.602																																																	0													96	78	84					1																	44054632		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.910C>T	1.37:g.44054632C>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.L304	ENST00000359947.4	37	c.910	CCDS489.2	1																																																																																			PTPRF	-	pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142949		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0	40	0	C			44054632	1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	25.00	72	24	SNP	0.991	T	T	44054632	C	T	44054632	2	4	52	1	0	0	0	0	0	0	0	1	12846	796	28	3		3	PTPRF	1	44054632	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2771694	44054632	205195989	21	12361											
MAST2	23139	genome.wustl.edu	37	chr1	46499903	46499903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccccgatctcccactcAaggctaccgggtgacccccg	6	7	8	20	3	2	1	1	1	1	0	4	2	3	1	7	2	1	1	7	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:46499903A>G	ENST00000361297.2	+	28	4116	c.3833A>G	c.(3832-3834)cAa>cGa	p.Q1278R	MAST2_ENST00000372009.2_Missense_Mutation_p.Q1185R	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TCTCCCACTCAAGGCTACCGG	0.597																																																	0													62	66	65					1																	46499903		1960	4163	6123	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3833A>G	1.37:g.46499903A>G	ENSP00000354671:p.Gln1278Arg			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.Q1278R	ENST00000361297.2	37	c.3833	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	a	13.57	2.277154	0.40294	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.32988	1.43;1.43	4.43	4.43	0.53597	.	0.268520	0.38111	N	0.001811	T	0.48537	0.1505	M	0.68317	2.08	0.52501	D	0.999958	D;P	0.63880	0.993;0.647	D;B	0.70227	0.968;0.271	T	0.43589	-0.9382	10	0.12103	T	0.63	-5.363	13.8769	0.63657	1.0:0.0:0.0:0.0	.	1185;1278	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	R	1278;1185	ENSP00000354671:Q1278R;ENSP00000361079:Q1185R	ENSP00000354671:Q1278R	Q	+	2	0	MAST2	46272490	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.069000	0.71209	1.859000	0.53934	0.451000	0.29950	CAA	MAST2	-	NULL	ENSG00000086015		0.597	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	24	0	A	NM_015112		46499903	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	G	G	46499903	A	G	46499903	3	3	52	1	0	0	0	0	1	0	0	0	9363	130	5	4	3943	4	MAST2	1	46499903	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2445271	46499903	202750718	22	12362											
MAST2	23139	genome.wustl.edu	37	chr1	46501229	46501229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccaggcactaacagcaCtttctcccagcacttcggga	11	7	7	16	1	1	0	0	0	1	0	3	1	1	1	2	2	3	3	2	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:46501229C>A	ENST00000361297.2	+	29	5171	c.4888C>A	c.(4888-4890)Ctt>Att	p.L1630I	MAST2_ENST00000372009.2_Missense_Mutation_p.L1440I	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACTAACAGCACTTTCTCCCAG	0.597																																																	0													45	50	48					1																	46501229		2052	4199	6251	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4888C>A	1.37:g.46501229C>A	ENSP00000354671:p.Leu1630Ile			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.L1630I	ENST00000361297.2	37	c.4888	CCDS41326.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.51|18.51	3.639742|3.639742	0.67244|0.67244	.|.	.|.	ENSG00000086015|ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000456625|ENST00000432341	T;T|.	0.74947|.	-0.41;-0.89|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	4.227850|.	0.00741|.	N|.	0.001014|.	T|T	0.34483|0.34483	0.0899|0.0899	N|N	0.24115|0.24115	0.695|0.695	0.24512|0.24512	N|N	0.994203|0.994203	D;D|.	0.61697|.	0.99;0.99|.	P;P|.	0.54759|.	0.76;0.76|.	T|T	0.18935|0.18935	-1.0321|-1.0321	10|6	0.34782|0.15952	T|T	0.22|0.53	-13.6814|-13.6814	14.6356|14.6356	0.68686|0.68686	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1440;1630|.	E7ERL6;Q6P0Q8|.	.;MAST2_HUMAN|.	I|N	1630;1440;317|598	ENSP00000354671:L1630I;ENSP00000361079:L1440I|.	ENSP00000354671:L1630I|ENSP00000396690:T598N	L|T	+|+	1|2	0|0	MAST2|MAST2	46273816|46273816	0.990000|0.990000	0.36364|0.36364	1.000000|1.000000	0.80357|0.80357	0.452000|0.452000	0.32318|0.32318	0.722000|0.722000	0.25925|0.25925	2.494000|2.494000	0.84150|0.84150	0.556000|0.556000	0.70494|0.70494	CTT|ACT	MAST2	-	NULL	ENSG00000086015		0.597	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	22	0	C	NM_015112		46501229	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	18.75	25	6	SNP	1.000	A	A	46501229	C	A	46501229	3	1	52	1	0	0	0	0	1	0	0	0	9363	565	20	3	5002	3	MAST2	1	46501229	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1326	46501229	202749392	23	12363											
FAF1	11124	genome.wustl.edu	37	chr1	51210386	51210386	+	Frame_Shift_Del	DEL	T	T	-																															acatctcccgtcttccagccTtttaacagcattttggacac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:51210386delT	ENST00000396153.2	-	5	880	c.429delA	c.(427-429)aaafs	p.K143fs	FAF1_ENST00000371778.4_Frame_Shift_Del_p.K143fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	143					apoptotic process (GO:0006915)|cell death (GO:0008219)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein complex assembly (GO:0031334)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of cell adhesion (GO:0030155)|regulation of protein catabolic process (GO:0042176)|regulation of protein kinase activity (GO:0045859)	CD95 death-inducing signaling complex (GO:0031265)|Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	heat shock protein binding (GO:0031072)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TCTTCCAGCCTTTTAACAGCA	0.299																																																	2	Whole gene deletion(2)	thyroid(1)|haematopoietic_and_lymphoid_tissue(1)											139	135	136					1																	51210386		2203	4299	6502	SO:0001589	frameshift_variant	0			AF132938	CCDS554.1	1p32.3	2012-09-20			ENSG00000185104	ENSG00000185104		"UBX domain containing"	3578	protein-coding gene	gene with protein product	"TNFRSF6-associated factor 1", "UBX domain protein 3A"	604460				10462485	Standard	NM_007051		Approved	CGI-03, hFAF1, HFAF1s, UBXD12, UBXN3A	uc001cse.1	Q9UNN5	OTTHUMG00000007930	ENST00000396153.2:c.429delA	1.37:g.51210386delT	ENSP00000379457:p.Lys143fs		Q549F0|Q9UF34|Q9UNT3|Q9Y2Z3	Frame_Shift_Del	DEL	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX	p.G144fs	ENST00000396153.2	37	c.429	CCDS554.1	1																																																																																			FAF1	-	NULL	ENSG00000185104		0.299	FAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAF1	HGNC	protein_coding	OTTHUMT00000021807.1		0	57	0	T	NM_007051		51210386	-1	tier1		no_errors	ENST00000371778	ensembl	human	known	74_37	frame_shift_del	38.46	32	20	DEL	1.000	-	-	51210386	T	-	51210386	7	5	52	1	0	1	0	1	0	0	0	0	5388	1606	56	0	1583	0	FAF1	1	51210386	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	4709157	51210386	198040235	24	12364											
USP24	23358	genome.wustl.edu	37	chr1	55591178	55591178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tataccatctttggtgaggtCttcatctaataacgtgggca	10	14	9	8	1	4	1	1	1	3	0	4	1	4	1	1	3	2	1	1	3	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:55591178C>T	ENST00000294383.6	-	34	3774	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N	USP24_ENST00000407756.1_Missense_Mutation_p.D1099N	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1259					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTGGTGAGGTCTTCATCTAAT	0.403																																																	0													137	132	133					1																	55591178		1925	4124	6049	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.3775G>A	1.37:g.55591178C>T	ENSP00000294383:p.Asp1259Asn		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.D1099N	ENST00000294383.6	37	c.3295	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340797	0.60963	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.20738	2.05;2.05	5.37	5.37	0.77165	.	0.291050	0.37136	N	0.002226	T	0.11537	0.0281	N	0.08118	0	0.58432	D	0.999995	P	0.37525	0.598	B	0.31751	0.135	T	0.20706	-1.0267	10	0.18276	T	0.48	.	19.0961	0.93251	0.0:1.0:0.0:0.0	.	1099	B7WPF4	.	N	1259;1099	ENSP00000294383:D1259N;ENSP00000385700:D1099N	ENSP00000294383:D1259N	D	-	1	0	USP24	55363766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.515000	0.84797	0.467000	0.42956	GAC	USP24	-	NULL	ENSG00000162402		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	49	0	C			55591178	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	48.21	29	27	SNP	1.000	T	T	55591178	C	T	55591178	3	4	52	1	0	0	0	0	1	0	0	0	17104	913	32	3	4227	3	USP24	1	55591178	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4380792	55591178	193659443	25	12365											
RPE65	6121	genome.wustl.edu	37	chr1	68903930	68903931	+	Frame_Shift_Ins	INS	-	-	T																															gttggggagcctttctggcaINSttttttttcacctcttccca																								rs281865520		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:68903930_68903931insT	ENST00000262340.5	-	10	1120_1121	c.1067_1068insA	c.(1066-1068)aatfs	p.N356fs		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	356					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCTTTCTGGCATTTTTTTTCAC	0.351																																																	0			GRCh37	CD972436	RPE65	D																																				SO:0001589	frameshift_variant	0			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"retinol isomerase", "all-trans-retinyl-palmitate hydrolase", "retinoid isomerohydrolase", "BCO family, member 3"	180069	"retinal pigment epithelium-specific protein (65kD)"	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.1068dupA	1.37:g.68903938_68903938dupT	ENSP00000262340:p.Asn356fs		A8K1L0|Q5T9U3	Frame_Shift_Ins	INS	pfam_Carotenoid_Oase	p.N356fs	ENST00000262340.5	37	c.1068_1067	CCDS643.1	1																																																																																			RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.351	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1		0	48	0	-	NM_000329		68903931	-1	tier1		no_errors	ENST00000262340	ensembl	human	known	74_37	frame_shift_ins	30.30	46	20	INS	0.995:1.000	T	T	68903931	-	T	68903930	7	5	52	1	0	1	1	0	0	0	0	0	13590	214	8	0	553	0	RPE65	1	68903930	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	13312752	68903930	180346691	26	12366											
IFI44	10561	genome.wustl.edu	37	chr1	79129487	79129487	+	Frame_Shift_Del	DEL	A	A	-																															attatcaactgtgcacaaggAaaaaaatagatatgtgaaag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:79129487delA	ENST00000370747.4	+	9	1411	c.1326delA	c.(1324-1326)ggafs	p.G442fs	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	442					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTGCACAAGGAAAAAAATAGA	0.358																																																	0													115	107	110					1																	79129487		2203	4300	6503	SO:0001589	frameshift_variant	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1326delA	1.37:g.79129487delA	ENSP00000359783:p.Gly442fs		B7ZAG3|D3DQ80|Q14496	Frame_Shift_Del	DEL	pfam_TLDc,superfamily_P-loop_NTPase	p.K444fs	ENST00000370747.4	37	c.1326	CCDS688.1	1																																																																																			IFI44	-	NULL	ENSG00000137965		0.358	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1		0	45	0	A	NM_006417		79129487	1	tier1		no_errors	ENST00000370747	ensembl	human	known	74_37	frame_shift_del	31.67	41	19	DEL	0.000	-	-	79129487	A	-	79129487	7	5	52	1	0	1	0	1	0	0	0	0	7544	233	9	0	1356	0	IFI44	1	79129487	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	10225557	79129487	170121134	27	12367											
SPATA1	100505741	genome.wustl.edu	37	chr1	84991635	84991635	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactaataatggtgttaaTgaggctgatggaacaatcca	15	10	10	6	0	0	3	0	2	0	1	1	4	1	4	1	3	1	2	1	3	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:84991635T>C	ENST00000370638.2	+	0	688							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ATGGTGTTAATGAGGCTGATG	0.368																																																	0													49	50	50					1																	84991635		2203	4300	6503			0			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84991635T>C			A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	SNP	-	NULL	ENST00000370638.2	37	NULL		1																																																																																			SPATA1	-	-	ENSG00000122432		0.368	SPATA1-007	KNOWN	basic	processed_transcript	SPATA1	HGNC	pseudogene	OTTHUMT00000314701.1	-	0	38	0	T	NM_022354		84991635	1	tier1	-	no_errors	ENST00000370638	ensembl	human	known	74_37	rna	18.18	54	12	SNP	0.000	C	C	84991635	T	C	84991635	1	2	52	0	1	0	0	0	0	0	0	0	15045	1461	51	4		4	SPATA1	1	84991635	RNA	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	5862148	84991635	164258986	28	12368											
ZNF644	84146	genome.wustl.edu	37	chr1	91403430	91403432	+	In_Frame_Del	DEL	ACG	ACG	-																															acaaatggtctgggaataatAcgacgactgttcaatgcctt																								rs140271599	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ACG	ACG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:91403430_91403432delACG	ENST00000370440.1	-	4	3515_3517	c.3298_3300delCGT	c.(3298-3300)cgtdel	p.R1100del	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_In_Frame_Del_p.R1100del|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGGGAATAATACGACGACTGTTC	0.355																																																	0																																										SO:0001651	inframe_deletion	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3298_3300delCGT	1.37:g.91403433_91403435delACG	ENSP00000359469:p.Arg1100del		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	In_Frame_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1100in_frame_del	ENST00000370440.1	37	c.3300_3298	CCDS731.1	1																																																																																			ZNF644	-	NULL	ENSG00000122482		0.355	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0	48	0	ACG	NM_032186		91403432	-1	tier1		no_errors	ENST00000337393	ensembl	human	known	74_37	in_frame_del	10.91	49	6	DEL	1.000:1.000:1.000	-	-	91403432	ACG	-	91403430	7	5	52	1	0	1	0	1	0	0	0	0	18108	378	14	0	695	0	ZNF644	1	91403430	In_Frame_Del	DEL	ACG	TCGA-L5-A43J-01A-12D-A247-09	6411795	91403430	157847191	29	12369											
CCDC18	343099	genome.wustl.edu	37	chr1	93682272	93682273	+	Frame_Shift_Ins	INS	-	-	A																															gcttattcctctattgctgcINSaaaaaatgcagaactagaac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:93682272_93682273insA	ENST00000343253.7	+	13	2298_2299	c.1796_1797insA	c.(1795-1800)gcaaaafs	p.AK599fs	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Ins_p.AK600fs|CCDC18_ENST00000557479.1_Frame_Shift_Ins_p.AK718fs|CCDC18_ENST00000338949.4_Frame_Shift_Ins_p.AK399fs			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	599										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTATTGCTGCAAAAAATGCAG	0.322																																																	0																																										SO:0001589	frameshift_variant	0					1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1802dupA	1.37:g.93682278_93682278dupA	ENSP00000343377:p.Ala599fs		Q6ZU17	Frame_Shift_Ins	INS	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.N720fs	ENST00000343253.7	37	c.2153_2154		1																																																																																			CCDC18	-	NULL	ENSG00000122483		0.322	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	CCDC18	HGNC	protein_coding	OTTHUMT00000382327.1		0	37	0	-	NM_206886		93682273	1	tier1		no_errors	ENST00000557479	ensembl	human	known	74_37	frame_shift_ins	21.57	40	11	INS	1.000:1.000	A	A	93682273	-	A	93682272	7	5	52	1	0	1	1	0	0	0	0	0	2801	710	25	0	2203	0	CCDC18	1	93682272	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	2278842	93682272	155568349	30	12370											
ABCA4	24	genome.wustl.edu	37	chr1	94506867	94506867	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagagtggggtgcctgaGcagtagagccttccctgggc	8	7	17	9	0	0	3	0	1	0	2	1	4	1	4	3	4	3	2	3	4	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:94506867G>T	ENST00000370225.3	-	23	3506	c.3420C>A	c.(3418-3420)tgC>tgA	p.C1140*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1140	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGCCTGAGCAGTAGAGCC	0.542																																																	0													131	117	122					1																	94506867		2203	4300	6503	SO:0001587	stop_gained	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3420C>A	1.37:g.94506867G>T	ENSP00000359245:p.Cys1140*		O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.C1140*	ENST00000370225.3	37	c.3420	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.192060	0.99355	.	.	ENSG00000198691	ENST00000370225	.	.	.	5.84	3.98	0.46160	.	0.084433	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.7296	0.46089	0.204:0.0:0.796:0.0	.	.	.	.	X	1140	.	ENSP00000359245:C1140X	C	-	3	2	ABCA4	94279455	1.000000	0.71417	0.906000	0.35671	0.939000	0.58152	5.807000	0.69157	0.811000	0.34303	-0.137000	0.14449	TGC	ABCA4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	ENSG00000198691		0.542	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	-	0	72	0	G	NM_000350		94506867	-1	tier1	-	no_errors	ENST00000370225	ensembl	human	known	74_37	nonsense	58.00	42	58	SNP	1.000	T	T	94506867	G	T	94506867	4	4	52	1	0	0	0	0	0	1	0	0	34	963	34	3	3513	3	ABCA4	1	94506867	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	824595	94506867	154743754	31	12371											
HIAT1	64645	genome.wustl.edu	37	chr1	100547662	100547662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataccaatttaagcttaaGgtccagcagttggagaaagc	15	9	9	8	0	0	1	0	0	0	1	1	2	1	1	2	2	4	3	2	2	5	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:100547662G>T	ENST00000370152.3	+	12	1506	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000462159.1_5'Flank	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	457					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTAAGCTTAAGGTCCAGCAGT	0.493																																																	0													99	90	93					1																	100547662		2203	4300	6503	SO:0001583	missense	0			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1370G>T	1.37:g.100547662G>T	ENSP00000359171:p.Arg457Met		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.R457M	ENST00000370152.3	37	c.1370	CCDS763.1	1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791463	0.50102	.	.	ENSG00000156875	ENST00000370152	T	0.35605	1.3	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.27349	0.0671	L	0.50333	1.59	0.58432	D	0.999998	B	0.24533	0.105	B	0.24006	0.05	T	0.05068	-1.0908	10	0.62326	D	0.03	-33.0769	20.1991	0.98252	0.0:0.0:1.0:0.0	.	457	Q96MC6	HIAT1_HUMAN	M	457	ENSP00000359171:R457M	ENSP00000359171:R457M	R	+	2	0	HIAT1	100320250	1.000000	0.71417	0.991000	0.47740	0.854000	0.48673	7.876000	0.87215	2.775000	0.95449	0.650000	0.86243	AGG	HIAT1	-	NULL	ENSG00000156875		0.493	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIAT1	HGNC	protein_coding	OTTHUMT00000029657.1	-	0	27	0	G	NM_033055		100547662	1	tier1	-	no_errors	ENST00000370152	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.987	T	T	100547662	G	T	100547662	3	4	52	1	0	0	0	0	1	0	0	0	7124	1000	35	3	1416	3	HIAT1	1	100547662	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6040795	100547662	148702959	32	12372											
VCAM1	7412	genome.wustl.edu	37	chr1	101194932	101194932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagggaatccaggtggagCtctactgtaagtggttttca	12	11	12	6	0	2	0	1	0	1	0	3	2	3	2	1	4	2	3	1	4	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:101194932C>A	ENST00000294728.2	+	5	1299	c.1198C>A	c.(1198-1200)Ctc>Atc	p.L400I	VCAM1_ENST00000347652.2_Intron|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.L338I	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	400					acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCAGGTGGAGCTCTACTGTAA	0.403																																																	0													93	102	99					1																	101194932		2203	4300	6503	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1198C>A	1.37:g.101194932C>A	ENSP00000294728:p.Leu400Ile		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N	p.L400I	ENST00000294728.2	37	c.1198	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321285	0.23994	.	.	ENSG00000162692	ENST00000370119;ENST00000294728	T;T	0.07908	4.02;3.15	5.53	2.57	0.30868	Immunoglobulin-like fold (1);	0.482604	0.22018	N	0.065777	T	0.01489	0.0048	N	0.11651	0.15	0.28904	N	0.893084	P;P	0.44309	0.693;0.832	B;B	0.41236	0.234;0.351	T	0.45454	-0.9260	10	0.46703	T	0.11	-0.5608	6.0065	0.19549	0.1256:0.4195:0.3825:0.0725	.	338;400	E9PDD1;P19320	.;VCAM1_HUMAN	I	338;400	ENSP00000359137:L338I;ENSP00000294728:L400I	ENSP00000294728:L400I	L	+	1	0	VCAM1	100967520	0.016000	0.18221	0.303000	0.25071	0.839000	0.47603	0.046000	0.14035	0.408000	0.25621	0.655000	0.94253	CTC	VCAM1	-	smart_Ig_sub	ENSG00000162692		0.403	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	-	0	39	0	C	NM_001078		101194932	1	tier1	-	no_errors	ENST00000294728	ensembl	human	known	74_37	missense	46.00	27	23	SNP	0.170	A	A	101194932	C	A	101194932	3	1	52	1	0	0	0	0	1	0	0	0	17186	797	28	3	1216	3	VCAM1	1	101194932	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	647270	101194932	148055689	33	12373											
COL11A1	1301	genome.wustl.edu	37	chr1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-																															ttggccccagatgaaccaggCcccccctatagagaaaaagt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:103474067delC	ENST00000370096.3	-	15	1947	c.1635delG	c.(1633-1635)gggfs	p.G545fs	COL11A1_ENST00000358392.2_Frame_Shift_Del_p.G557fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G429fs|COL11A1_ENST00000461720.1_5'Flank|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G506fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	545	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGAACCAGGCCCCCCCTATA	0.368																																																	0													53	64	60					1																	103474067		2202	4300	6502	SO:0001589	frameshift_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1635delG	1.37:g.103474067delC	ENSP00000359114:p.Gly545fs		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P558fs	ENST00000370096.3	37	c.1671	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	38	0	C	NM_080630		103474067	-1	tier1		no_errors	ENST00000358392	ensembl	human	known	74_37	frame_shift_del	17.31	43	9	DEL	0.000	-	-	103474067	C	-	103474067	7	5	52	1	0	1	0	1	0	0	0	0	3674	726	26	0	3997	0	COL11A1	1	103474067	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	2279135	103474067	145776554	34	12374											
AMY2A	279	genome.wustl.edu	37	chr1	104162312	104162312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgatgcttccaagcacaTgtggcctggagacataaagg	12	9	11	9	0	0	2	0	1	0	1	1	3	1	2	2	3	2	2	2	3	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:104162312T>C	ENST00000414303.2	+	4	714	c.650T>C	c.(649-651)aTg>aCg	p.M217T		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	217					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	TCCAAGCACATGTGGCCTGGA	0.433																																																	0													47	31	36					1																	104162312		2043	4014	6057	SO:0001583	missense	0			BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"amylase, alpha 2A; pancreatic"	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.650T>C	1.37:g.104162312T>C	ENSP00000397582:p.Met217Thr		B9EJG1|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.M217T	ENST00000414303.2	37	c.650	CCDS783.1	1	.	.	.	.	.	.	.	.	.	.	t	15.77	2.932656	0.52866	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	D	0.98419	-4.92	2.96	2.96	0.34315	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99263	0.9743	H	0.98682	4.3	0.80722	D	1	P;D	0.53462	0.728;0.96	D;D	0.78314	0.982;0.991	D	0.98839	1.0754	10	0.87932	D	0	.	11.1638	0.48531	0.0:0.0:0.0:1.0	.	217;217	B9EJG1;P04746	.;AMYP_HUMAN	T	217	ENSP00000397582:M217T	ENSP00000377509:M217T	M	+	2	0	AMY2A	103963835	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.514000	0.81750	1.339000	0.45563	0.254000	0.18369	ATG	AMY2A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000243480		0.433	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2A	HGNC	protein_coding	OTTHUMT00000030315.1	-	0	277	0	T	NM_000699		104162312	1	tier1	-	no_errors	ENST00000414303	ensembl	human	known	74_37	missense	15.71	278	52	SNP	1.000	C	C	104162312	T	C	104162312	3	2	52	1	0	0	0	0	1	0	0	0	594	1464	51	4	664	4	AMY2A	1	104162312	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	688245	104162312	145088309	35	12375											
AMY1A	278	genome.wustl.edu	37	chr1	104297180	104297180	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgcttgtctttgtggataAccatgacaatcaacgaggac	12	10	10	9	2	2	1	1	1	1	0	2	4	2	3	1	2	3	1	1	2	3	3	rs200267405		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:104297180A>T	ENST00000370079.3	+	6	1002	c.938A>T	c.(937-939)aAc>aTc	p.N313I		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	313					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		TTTGTGGATAACCATGACAAT	0.418																																																	0													128	122	124					1																	104297180		2155	4177	6332	SO:0001583	missense	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.938A>T	1.37:g.104297180A>T	ENSP00000359096:p.Asn313Ile		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.N313I	ENST00000370079.3	37	c.938	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759936	0.49468	.	.	ENSG00000187733	ENST00000370079	D	0.99304	-5.72	2.23	2.23	0.28157	.	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	H	0.98866	4.355	0.80722	D	1	.	.	.	.	.	.	D	0.98264	1.0500	8	0.87932	D	0	.	10.2122	0.43147	1.0:0.0:0.0:0.0	.	.	.	.	I	313	ENSP00000359096:N313I	ENSP00000359096:N313I	N	+	2	0	AMY1C	104098703	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	6.974000	0.76122	1.020000	0.39573	0.155000	0.16302	AAC	AMY1C	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000187733		0.418	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0	131	0	A	NM_001008219		104297180	1	tier1	rs200267405	no_errors	ENST00000370079	ensembl	human	known	74_37	missense	11.69	204	27	SNP	1.000	T	T	104297180	A	T	104297180	3	4	52	1	0	0	0	0	1	0	0	0	591	43	2	5	4112	5	AMY1A	1	104297180	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	134868	104297180	144953441	36	12376											
CELSR2	1952	genome.wustl.edu	37	chr1	109811737	109811737	+	Frame_Shift_Del	DEL	C	C	-																															agtgtcccctcccagagacgCcccccgtggtcaggcccgca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:109811737delC	ENST00000271332.3	+	20	6698	c.6637delC	c.(6637-6639)cccfs	p.P2214fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2214					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCAGAGACGCCCCCCGTGGT	0.682																																					NSCLC(158;1285 2011 34800 34852 42084)												0													16	19	18					1																	109811737		2201	4296	6497	SO:0001589	frameshift_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6637delC	1.37:g.109811737delC	ENSP00000271332:p.Pro2214fs		Q5T2Y7|Q92566	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V2215fs	ENST00000271332.3	37	c.6637	CCDS796.1	1																																																																																			CELSR2	-	pfam_DUF3497	ENSG00000143126		0.682	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	19	0	C	NM_001408		109811737	1	tier1		no_errors	ENST00000271332	ensembl	human	known	74_37	frame_shift_del	35.42	31	17	DEL	0.004	-	-	109811737	C	-	109811737	7	5	52	1	0	1	0	1	0	0	0	0	3229	739	26	0	6715	0	CELSR2	1	109811737	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	5514557	109811737	139438884	37	12377											
CTTNBP2NL	55917	genome.wustl.edu	37	chr1	112999148	112999148	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccactcctgcttactcatAtgcaaaaaccaatggccatt	12	11	5	13	0	1	0	1	0	0	0	2	0	2	0	4	1	5	2	4	1	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:112999148A>G	ENST00000271277.6	+	6	1259	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	345					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTTACTCATATGCAAAAACC	0.493																																																	0													144	147	146					1																	112999148		2203	4300	6503	SO:0001583	missense	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1034A>G	1.37:g.112999148A>G	ENSP00000271277:p.Tyr345Cys		B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.Y345C	ENST00000271277.6	37	c.1034	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	A	11.74	1.728796	0.30593	.	.	ENSG00000143079	ENST00000271277	T	0.23348	1.91	5.69	4.5	0.54988	.	0.260319	0.39834	N	0.001260	T	0.10551	0.0258	L	0.47716	1.5	0.44282	D	0.997143	P	0.47106	0.89	B	0.35971	0.215	T	0.04678	-1.0934	10	0.39692	T	0.17	-6.0267	11.414	0.49941	0.8647:0.0:0.0:0.1353	.	345	Q9P2B4	CT2NL_HUMAN	C	345	ENSP00000271277:Y345C	ENSP00000271277:Y345C	Y	+	2	0	CTTNBP2NL	112800671	0.757000	0.28394	0.989000	0.46669	0.525000	0.34531	1.681000	0.37618	2.163000	0.67991	0.460000	0.39030	TAT	CTTNBP2NL	-	NULL	ENSG00000143079		0.493	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	-	0	18	0	A	NM_018704		112999148	1	tier1	-	no_errors	ENST00000271277	ensembl	human	known	74_37	missense	69.57	7	16	SNP	0.981	G	G	112999148	A	G	112999148	3	3	52	1	0	0	0	0	1	0	0	0	4055	449	16	4	1048	4	CTTNBP2NL	1	112999148	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3187411	112999148	136251473	38	12378											
MOV10	4343	genome.wustl.edu	37	chr1	113239426	113239426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacaagaagggccctgatgGctatgacccccagttcataa	12	8	10	11	0	1	3	1	2	0	1	1	3	1	3	3	2	1	3	3	2	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:113239426G>A	ENST00000413052.2	+	14	2546	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	MOV10_ENST00000369644.1_Missense_Mutation_p.G663D|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.G719D|MOV10_ENST00000357443.2_Missense_Mutation_p.G719D	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	719					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GGCCCTGATGGCTATGACCCC	0.562																																																	0													74	52	59					1																	113239426		2203	4299	6502	SO:0001583	missense	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2156G>A	1.37:g.113239426G>A	ENSP00000399797:p.Gly719Asp		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.G719D	ENST00000413052.2	37	c.2156	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292767	0.60086	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92752	-3.1;-3.1;-3.09;-3.1	5.71	4.8	0.61643	.	0.376526	0.32655	N	0.005817	D	0.91026	0.7177	M	0.67625	2.065	0.80722	D	1	P	0.38167	0.621	P	0.48873	0.593	D	0.91653	0.5336	10	0.62326	D	0.03	-15.6986	11.4427	0.50107	0.1461:0.0:0.8539:0.0	.	719	Q9HCE1	MOV10_HUMAN	D	719;719;663;719;657	ENSP00000399797:G719D;ENSP00000358659:G719D;ENSP00000358658:G663D;ENSP00000350028:G719D	ENSP00000350028:G719D	G	+	2	0	MOV10	113040949	1.000000	0.71417	0.993000	0.49108	0.706000	0.40770	3.978000	0.56881	1.426000	0.47256	0.561000	0.74099	GGC	MOV10	-	superfamily_P-loop_NTPase	ENSG00000155363		0.562	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	-	0	35	0	G	NM_020963		113239426	1	tier1	-	no_errors	ENST00000357443	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.992	A	A	113239426	G	A	113239426	3	1	52	1	0	0	0	0	1	0	0	0	9756	1203	42	3	2206	3	MOV10	1	113239426	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	240278	113239426	136011195	39	12379											
TRIM33	51592	genome.wustl.edu	37	chr1	115007001	115007001	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggcatactgggcaccgtAttacaccaactacaacataa	14	7	8	12	2	0	0	0	0	0	0	0	0	0	0	2	3	5	3	2	3	7	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:115007001A>C	ENST00000358465.2	-	2	619	c.536T>G	c.(535-537)aTa>aGa	p.I179R	TRIM33_ENST00000369543.2_Missense_Mutation_p.I179R|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	179					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGCACCGTATTACACCAAC	0.343			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0													93	91	92					1																	115007001		2203	4300	6503	SO:0001583	missense	0			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.536T>G	1.37:g.115007001A>C	ENSP00000351250:p.Ile179Arg		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.I179R	ENST00000358465.2	37	c.536	CCDS872.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470358	0.84533	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	T;T	0.68331	-0.32;-0.32	5.8	5.8	0.92144	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);	0.038767	0.85682	D	0.000000	T	0.69205	0.3085	L	0.35644	1.08	0.80722	D	1	D;D	0.64830	0.981;0.994	P;D	0.72982	0.74;0.979	T	0.74535	-0.3633	10	0.87932	D	0	-14.1923	15.8211	0.78644	1.0:0.0:0.0:0.0	.	179;179	Q9UPN9-2;Q9UPN9	.;TRI33_HUMAN	R	179	ENSP00000351250:I179R;ENSP00000358556:I179R	ENSP00000351250:I179R	I	-	2	0	TRIM33	114808524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.993000	0.76245	2.216000	0.71823	0.533000	0.62120	ATA	TRIM33	-	smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_RING	ENSG00000197323		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	-	0	18	0	A	NM_015906		115007001	-1	tier1	-	no_errors	ENST00000358465	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	C	C	115007001	A	C	115007001	3	2	52	1	0	0	0	0	1	0	0	0	16555	449	16	4	2923	4	TRIM33	1	115007001	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1767575	115007001	134243620	40	12380											
DENND2C	163259	genome.wustl.edu	37	chr1	115168367	115168367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattttcatttatatctagaCccacattttcacggctggtt	9	18	5	9	1	3	1	2	0	1	1	3	1	3	1	1	2	0	2	1	2	4	10			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:115168367C>T	ENST00000393274.1	-	4	864	c.239G>A	c.(238-240)gGt>gAt	p.G80D	DENND2C_ENST00000393277.1_Missense_Mutation_p.G80D|DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_Missense_Mutation_p.G80D	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	80					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATATCTAGACCCACATTTTC	0.343																																																	0													154	160	158					1																	115168367		2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.239G>A	1.37:g.115168367C>T	ENSP00000376955:p.Gly80Asp		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.G80D	ENST00000393274.1	37	c.239	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633904	0.03584	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08193	3.55;3.69;3.12	5.5	0.172	0.15031	.	0.915238	0.09436	N	0.802406	T	0.01695	0.0054	L	0.40543	1.245	0.09310	N	0.999999	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.003	T	0.48525	-0.9028	10	0.27785	T	0.31	.	1.7132	0.02896	0.1319:0.4516:0.1279:0.2886	.	80;80	Q68D51;Q68D51-3	DEN2C_HUMAN;.	D	80	ENSP00000376957:G80D;ENSP00000376955:G80D;ENSP00000376958:G80D	ENSP00000358553:G80D	G	-	2	0	DENND2C	114969890	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.052000	0.14163	-0.227000	0.09884	0.644000	0.83932	GGT	DENND2C	-	NULL	ENSG00000175984		0.343	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0	54	0	C	NM_198459		115168367	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	45.45	36	30	SNP	0.009	T	T	115168367	C	T	115168367	3	4	52	1	0	0	0	0	1	0	0	0	4444	507	18	3	2444	3	DENND2C	1	115168367	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	161366	115168367	134082254	41	12381											
CHD1L	9557	genome.wustl.edu	37	chr1	146757121	146757123	+	In_Frame_Del	DEL	GAG	GAG	-																															ccaagagaaggagactcataGaggagaagaagaggcaaaag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:146757121_146757123delGAG	ENST00000369258.4	+	17	1995_1997	c.1975_1977delGAG	c.(1975-1977)gagdel	p.E660del	CHD1L_ENST00000361293.5_In_Frame_Del_p.E379del|CHD1L_ENST00000369259.3_In_Frame_Del_p.E456del|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_In_Frame_Del_p.E566del	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	660					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GAGACTCATAGAGGAGAAGAAGA	0.473																																																	0																																										SO:0001651	inframe_deletion	0			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.1975_1977delGAG	1.37:g.146757124_146757126delGAG	ENSP00000358262:p.Glu660del		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	In_Frame_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E660in_frame_del	ENST00000369258.4	37	c.1975_1977	CCDS927.1	1																																																																																			CHD1L	-	NULL	ENSG00000131778		0.473	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1L	HGNC	protein_coding	OTTHUMT00000040377.1		0	14	0	GAG	NM_004284		146757123	1	tier1		no_errors	ENST00000369258	ensembl	human	known	74_37	in_frame_del	20.00	16	4	DEL	0.998:1.000:0.999	-	-	146757123	GAG	-	146757121	7	5	52	1	0	1	0	1	0	0	0	0	3331	943	33	0	2041	0	CHD1L	1	146757121	In_Frame_Del	DEL	GAG	TCGA-L5-A43J-01A-12D-A247-09	31588754	146757121	102493500	42	12382											
HIST2H2BF	440689	genome.wustl.edu	37	chr1	149783804	149783806	+	In_Frame_Del	DEL	CTT	CTT	-																															cgcttgcgcttcttgccgtcCttcttctgcactttcgtaac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:149783804_149783806delCTT	ENST00000369167.1	-	1	108_110	c.73_75delAAG	c.(73-75)aagdel	p.K25del	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_In_Frame_Del_p.K25del|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_In_Frame_Del_p.K25del	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	25					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TCTTGCCGTCCTTCTTCTGCACT	0.547																																																	0																																										SO:0001651	inframe_deletion	0			BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"Histones / Replication-dependent"	24700	protein-coding gene	gene with protein product			"histone 2, H2bf"				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.73_75delAAG	1.37:g.149783807_149783809delCTT	ENSP00000358164:p.Lys25del		A8K0U9|B4DLA9	In_Frame_Del	DEL	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.K25in_frame_del	ENST00000369167.1	37	c.75_73	CCDS30846.1	1																																																																																			HIST2H2BF	-	superfamily_Histone-fold	ENSG00000203814		0.547	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BF	HGNC	protein_coding	OTTHUMT00000033453.2		0	93	0	CTT	NM_001024599		149783806	-1	tier1		no_errors	ENST00000427880	ensembl	human	known	74_37	in_frame_del	19.26	109	26	DEL	0.914:1.000:1.000	-	-	149783806	CTT	-	149783804	7	5	52	1	0	1	0	1	0	0	0	0	7207	680	24	0	726	0	HIST2H2BF	1	149783804	In_Frame_Del	DEL	CTT	TCGA-L5-A43J-01A-12D-A247-09	3026683	149783804	99466817	43	12383											
SETDB1	9869	genome.wustl.edu	37	chr1	150917540	150917540	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcacgtggtggaagtccCgagttgaggaggtggatggc	9	7	19	6	2	0	1	0	1	0	0	1	5	1	4	1	7	0	2	1	7	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:150917540C>T	ENST00000271640.5	+	9	1286	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_3'UTR|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.R366*|SETDB1_ENST00000368962.2_Nonsense_Mutation_p.R366*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	366	Tudor 2.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTGGAAGTCCCGAGTTGAGGA	0.542																																																	0													118	103	108					1																	150917540		2203	4300	6503	SO:0001587	stop_gained	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1096C>T	1.37:g.150917540C>T	ENSP00000271640:p.Arg366*		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.R366*	ENST00000271640.5	37	c.1096	CCDS44217.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023168	0.93462	.	.	ENSG00000143379	ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000498193	.	.	.	5.83	5.83	0.93111	.	0.167341	0.47852	D	0.000202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0084	0.64481	0.2515:0.7485:0.0:0.0	.	.	.	.	X	366	.	ENSP00000271640:R366X	R	+	1	2	SETDB1	149184164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.122000	0.50446	2.775000	0.95449	0.650000	0.86243	CGA	SETDB1	-	smart_Tudor	ENSG00000143379		0.542	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0	82	0	C			150917540	1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	nonsense	15.22	117	21	SNP	1.000	T	T	150917540	C	T	150917540	4	4	52	1	0	0	0	0	0	1	0	0	14183	644	23	1	1126	1	SETDB1	1	150917540	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1133736	150917540	98333081	44	12384											
SETDB1	9869	genome.wustl.edu	37	chr1	150931756	150931756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacagctattcaagacacaGaacaagggctggggtatccg	13	7	11	10	1	1	2	1	0	0	2	2	2	2	2	1	3	3	3	1	3	6	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:150931756G>A	ENST00000271640.5	+	15	2623	c.2433G>A	c.(2431-2433)caG>caA	p.Q811Q	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.Q811Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	811	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAAGACACAGAACAAGGGCT	0.438																																																	0													195	193	193					1																	150931756		2203	4300	6503	SO:0001819	synonymous_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2433G>A	1.37:g.150931756G>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.Q811	ENST00000271640.5	37	c.2433	CCDS44217.1	1																																																																																			SETDB1	-	smart_SET_dom,pfscan_SET_dom	ENSG00000143379		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0	91	0	G			150931756	1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	33.33	68	34	SNP	1.000	A	A	150931756	G	A	150931756	2	1	52	1	0	0	0	0	0	0	0	1	14183	933	33	3		3	SETDB1	1	150931756	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	14216	150931756	98318865	45	12385											
MRPL9	65005	genome.wustl.edu	37	chr1	151735572	151735573	+	Frame_Shift_Ins	INS	-	-	C																															ggtgcaggcgcggcttccggINSccctccccggccagcggtac																								rs571400775		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:151735572_151735573insC	ENST00000368830.3	-	2	287_288	c.203_204insG	c.(202-204)ggcfs	p.G68fs	OAZ3_ENST00000321531.5_5'UTR|OAZ3_ENST00000453029.2_5'Flank|OAZ3_ENST00000315067.8_5'UTR|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000479764.1_5'Flank|RP11-98D18.2_ENST00000420382.1_RNA|MRPL9_ENST00000368829.3_Frame_Shift_Ins_p.G68fs	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	68					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGGCTTCCGGCCCTCCCCGGC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"Mitochondrial ribosomal proteins / large subunits"	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.204dupG	1.37:g.151735575_151735575dupC	ENSP00000357823:p.Gly68fs		B2RD99|Q5SZR2|Q9BSW8	Frame_Shift_Ins	INS	pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N	p.R69fs	ENST00000368830.3	37	c.204_203	CCDS1003.1	1																																																																																			MRPL9	-	NULL	ENSG00000143436		0.639	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2		0	17	0	-	NM_031420		151735573	-1	tier1		no_errors	ENST00000368830	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	1.000:1.000	C	C	151735573	-	C	151735572	7	5	52	1	0	1	1	0	0	0	0	0	9858	1190	42	0	623	0	MRPL9	1	151735572	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	803816	151735572	97515049	46	12386											
HRNR	388697	genome.wustl.edu	37	chr1	152187979	152187979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagagccatgctgaccGtggctggaagactgacctga	10	6	14	11	1	0	5	0	3	0	2	0	7	0	6	4	2	3	2	4	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:152187979G>A	ENST00000368801.2	-	3	6201	c.6126C>T	c.(6124-6126)caC>caT	p.H2042H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2042					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCTGACCGTGGCTGGAAG	0.592																																																	0													76	107	96					1																	152187979		1516	3106	4622	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6126C>T	1.37:g.152187979G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H2042	ENST00000368801.2	37	c.6126	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	107	0	G	XM_373868		152187979	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	14.29	102	17	SNP	0.000	A	A	152187979	G	A	152187979	2	1	52	1	0	0	0	0	0	0	0	1	7386	1136	40	1		1	HRNR	1	152187979	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	452407	152187979	97062642	47	12387											
DENND4B	9909	genome.wustl.edu	37	chr1	153914345	153914345	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaggagccatgctcacGcttccaagggtaggcggtgg	8	6	17	10	2	1	1	1	0	0	1	2	2	2	2	2	6	2	4	2	6	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:153914345G>A	ENST00000361217.4	-	6	1473	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	352	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATGCTCACGCTTCCAAGGG	0.637																																																	0													40	45	44					1																	153914345		2102	4209	6311	SO:0001630	splice_region_variant	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1055+1C>T	1.37:g.153914345G>A			Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A352V	ENST00000361217.4	37	c.1055	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183292	0.57800	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.12039	2.72;2.72	4.39	4.39	0.52855	DENN (3);	0.475831	0.20859	N	0.084397	T	0.09335	0.0230	L	0.32530	0.975	0.43745	D	0.99624	D	0.61697	0.99	P	0.52386	0.697	T	0.11446	-1.0587	9	.	.	.	-18.0066	11.1611	0.48516	0.0:0.0:0.8156:0.1844	.	352	O75064	DEN4B_HUMAN	V	352;363	ENSP00000354597:A352V;ENSP00000357635:A363V	.	A	-	2	0	DENND4B	152180969	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.592000	0.46171	2.292000	0.77174	0.462000	0.41574	GCG	DENND4B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000198837		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0	36	0	G	XM_375806	Missense_Mutation	153914345	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	A	A	153914345	G	A	153914345	5	1	52	1	0	0	0	0	0	0	1	0	4448	1101	38	1	3527	1	DENND4B	1	153914345	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1726366	153914345	95336276	48	12388											
DENND4B	9909	genome.wustl.edu	37	chr1	153914758	153914758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgatagtggcccccatggGcaggcagaagacgggcactg	9	5	15	12	2	0	2	0	0	0	2	1	3	0	2	2	4	0	3	2	4	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:153914758G>A	ENST00000361217.4	-	5	1133	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	239	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCCCATGGGCAGGCAGAAG	0.647																																																	0													57	71	66					1																	153914758		2093	4201	6294	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.715C>T	1.37:g.153914758G>A	ENSP00000354597:p.Pro239Ser		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P239S	ENST00000361217.4	37	c.715	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734213	0.89482	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	D;D	0.95756	-3.8;-3.8	4.51	4.51	0.55191	uDENN (3);	.	.	.	.	D	0.98105	0.9375	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	D	0.99177	1.0866	9	0.87932	D	0	-8.2651	16.148	0.81583	0.0:0.0:1.0:0.0	.	239	O75064	DEN4B_HUMAN	S	239;250	ENSP00000354597:P239S;ENSP00000357635:P250S	ENSP00000354597:P239S	P	-	1	0	DENND4B	152181382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.450000	0.97607	2.358000	0.79984	0.563000	0.77884	CCC	DENND4B	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000198837		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0	23	0	G	XM_375806		153914758	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	42.37	34	25	SNP	1.000	A	A	153914758	G	A	153914758	3	1	52	1	0	0	0	0	1	0	0	0	4448	1203	42	3	3871	3	DENND4B	1	153914758	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	413	153914758	95335863	49	12389											
DCST1	149095	genome.wustl.edu	37	chr1	155007018	155007018	+	Frame_Shift_Del	DEL	G	G	-																															tcctgctgggggcaggcgctGgggggctcctggccataggt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155007018delG	ENST00000295542.1	+	3	265	c.169delG	c.(169-171)gggfs	p.G58fs	DCST2_ENST00000368424.3_5'Flank|DCST1_ENST00000368419.2_Frame_Shift_Del_p.G58fs|DCST1_ENST00000392480.1_Frame_Shift_Del_p.G58fs|DCST2_ENST00000295536.5_5'Flank|DCST1_ENST00000423025.2_Frame_Shift_Del_p.G58fs	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	58						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCAGGCGCTGGGGGGCTCCT	0.642																																																	0													67	78	74					1																	155007018		2203	4300	6503	SO:0001589	frameshift_variant	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.169delG	1.37:g.155007018delG	ENSP00000295542:p.Gly58fs		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Frame_Shift_Del	DEL	pfam_DC_STAMP-like,pfscan_Znf_RING	p.L59fs	ENST00000295542.1	37	c.169	CCDS1083.1	1																																																																																			DCST1	-	NULL	ENSG00000163357		0.642	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1		0	51	0	G	NM_152494		155007018	1	tier1		no_errors	ENST00000295542	ensembl	human	known	74_37	frame_shift_del	22.67	58	17	DEL	0.954	-	-	155007018	G	-	155007018	7	5	52	1	0	1	0	1	0	0	0	0	4311	1348	47	0	175	0	DCST1	1	155007018	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	1092260	155007018	94243603	50	12390											
EFNA1	1942	genome.wustl.edu	37	chr1	155100484	155100484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcccctctcttgggtCtgtgctgcagtctggccgct	1	13	13	14	1	4	0	0	0	4	0	5	0	4	0	3	3	2	3	3	3	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155100484C>A	ENST00000368407.3	+	1	549	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	EFNA1_ENST00000368406.2_Missense_Mutation_p.L11M|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	11					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCTCTTGGGTCTGTGCTGCAG	0.652																																																	0													50	52	51					1																	155100484		2202	4300	6502	SO:0001583	missense	0				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"Ephrins"	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.31C>A	1.37:g.155100484C>A	ENSP00000357392:p.Leu11Met		D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L11M	ENST00000368407.3	37	c.31	CCDS1091.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439287	0.63067	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	D;D	0.94417	-3.39;-3.42	3.49	1.53	0.23141	.	0.312777	0.26072	N	0.026514	D	0.89508	0.6735	L	0.53561	1.675	0.24015	N	0.996165	P;P	0.49253	0.903;0.921	P;P	0.53861	0.736;0.653	T	0.81911	-0.0716	10	0.27785	T	0.31	-0.4538	5.3552	0.16057	0.0:0.729:0.0:0.271	.	11;11	P20827-2;P20827	.;EFNA1_HUMAN	M	11	ENSP00000357392:L11M;ENSP00000357391:L11M	ENSP00000357391:L11M	L	+	1	2	EFNA1	153367108	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.559000	0.23485	0.760000	0.33108	0.557000	0.71058	CTG	EFNA1	-	NULL	ENSG00000169242		0.652	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	-	0	51	0	C	NM_004428		155100484	1	tier1	-	no_errors	ENST00000368407	ensembl	human	known	74_37	missense	27.40	53	20	SNP	0.999	A	A	155100484	C	A	155100484	3	1	52	1	0	0	0	0	1	0	0	0	4964	912	32	3	33	3	EFNA1	1	155100484	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	93466	155100484	94150137	51	12391											
GON4L	54856	genome.wustl.edu	37	chr1	155734981	155734981	+	Frame_Shift_Del	DEL	G	G	-																															atgaatcttctggcttccctGgggggctactaagcctcact																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155734981delG	ENST00000368331.1	-	21	4331	c.4283delC	c.(4282-4284)ccafs	p.P1428fs	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Frame_Shift_Del_p.P1428fs|GON4L_ENST00000271883.5_Frame_Shift_Del_p.P1428fs|GON4L_ENST00000361040.5_Frame_Shift_Del_p.P1428fs	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1428					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGCTTCCCTGGGGGGCTACT	0.512																																																	0													96	100	99					1																	155734981		2203	4300	6503	SO:0001589	frameshift_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4283delC	1.37:g.155734981delG	ENSP00000357315:p.Pro1428fs		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Frame_Shift_Del	DEL	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.P1428fs	ENST00000368331.1	37	c.4283		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.512	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0	53	0	G	NM_032292		155734981	-1	tier1		no_errors	ENST00000368331	ensembl	human	known	74_37	frame_shift_del	19.67	49	12	DEL	0.079	-	-	155734981	G	-	155734981	7	5	52	1	0	1	0	1	0	0	0	0	6598	1348	47	0	2604	0	GON4L	1	155734981	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	634497	155734981	93515640	52	12392											
KIAA0907	22889	genome.wustl.edu	37	chr1	155903598	155903598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgctggcgggaggaaGagaagtggggctggagctgg	7	4	24	6	2	0	1	0	0	0	1	0	5	0	4	1	9	1	3	1	9	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:155903598G>T	ENST00000368321.3	-	2	104	c.81C>A	c.(79-81)ctC>ctA	p.L27L	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368320.3_Silent_p.L27L|KIAA0907_ENST00000368319.3_Silent_p.L27L	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	27							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GCGGGAGGAAGAGAAGTGGGG	0.587																																																	0													21	27	25					1																	155903598		2201	4297	6498	SO:0001819	synonymous_variant	0			BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.81C>A	1.37:g.155903598G>T			O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	NULL	p.L27	ENST00000368321.3	37	c.81	CCDS30885.1	1																																																																																			KIAA0907	-	NULL	ENSG00000132680		0.587	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0907	HGNC	protein_coding	OTTHUMT00000039583.1	-	0	24	0	G	NM_014949		155903598	-1	tier1	-	no_errors	ENST00000368321	ensembl	human	known	74_37	silent	44.74	21	17	SNP	1.000	T	T	155903598	G	T	155903598	2	4	52	1	0	0	0	0	0	0	0	1	8226	929	33	3		3	KIAA0907	1	155903598	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	168617	155903598	93347023	53	12393											
GPATCH4	54865	genome.wustl.edu	37	chr1	156565387	156565389	+	In_Frame_Del	DEL	TTC	TTC	-																															ttccttcttgatgtcgccttTtcttcttcttgctttttctg																								rs145851878	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:156565387_156565389delTTC	ENST00000438976.2	-	8	774_776	c.744_746delGAA	c.(742-747)aagaaa>aaa	p.248_249KK>K	GPATCH4_ENST00000368232.4_In_Frame_Del_p.243_244KK>K|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	243							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGTCGCCTTTTCTTCTTCTTGC	0.468																																																	0									,	11,4233		5,1,2116					,	1	0.3			326	16,8190		8,0,4095	no	coding,coding	GPATCH4	NM_182679.2,NM_015590.3	,	13,1,6211	A1A1,A1R,RR		0.195,0.2592,0.2169	,	,		27,12423				SO:0001651	inframe_deletion	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.744_746delGAA	1.37:g.156565393_156565395delTTC	ENSP00000396441:p.Lys249del		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	In_Frame_Del	DEL	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.K249in_frame_del	ENST00000438976.2	37	c.746_744	CCDS44245.1	1																																																																																			GPATCH4	-	NULL	ENSG00000160818		0.468	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1		0	94	0	TTC	NM_017725		156565389	-1	tier1		no_errors	ENST00000438976	ensembl	human	known	74_37	in_frame_del	10.53	102	12	DEL	0.959:0.981:0.986	-	-	156565389	TTC	-	156565387	7	5	52	1	0	1	0	1	0	0	0	0	6619	1841	64	0	385	0	GPATCH4	1	156565387	In_Frame_Del	DEL	TTC	TCGA-L5-A43J-01A-12D-A247-09	661789	156565387	92685234	54	12394											
CD1A	909	genome.wustl.edu	37	chr1	158226752	158226752	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtgctgatgggacatggTatctccgcgcaaccctggag	8	8	13	12	2	1	1	0	1	1	0	2	3	1	3	3	3	2	3	3	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:158226752T>C	ENST00000289429.5	+	4	1314	c.781T>C	c.(781-783)Tat>Cat	p.Y261H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	261	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TGGGACATGGTATCTCCGCGC	0.622																																																	0													104	94	98					1																	158226752		2203	4300	6503	SO:0001583	missense	0			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1634	protein-coding gene	gene with protein product		188370	"CD1A antigen, a polypeptide", "CD1a antigen"	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.781T>C	1.37:g.158226752T>C	ENSP00000289429:p.Tyr261His		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y261H	ENST00000289429.5	37	c.781	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.948654	0.53186	.	.	ENSG00000158477	ENST00000289429	T	0.14144	2.53	3.84	3.84	0.44239	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.198179	0.25347	N	0.031336	T	0.17577	0.0422	M	0.79805	2.47	0.27216	N	0.959786	P	0.48834	0.916	P	0.54590	0.756	T	0.02226	-1.1192	10	0.72032	D	0.01	-6.297	9.2021	0.37265	0.0:0.0:0.0:1.0	.	261	P06126	CD1A_HUMAN	H	261	ENSP00000289429:Y261H	ENSP00000289429:Y261H	Y	+	1	0	CD1A	156493376	0.980000	0.34600	0.997000	0.53966	0.367000	0.29736	0.966000	0.29331	1.737000	0.51674	0.402000	0.26972	TAT	CD1A	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000158477		0.622	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	-	0	52	0	T	NM_001763		158226752	1	tier1	-	no_errors	ENST00000289429	ensembl	human	known	74_37	missense	24.68	58	19	SNP	0.997	C	C	158226752	T	C	158226752	3	2	52	1	0	0	0	0	1	0	0	0	2981	1638	57	4	795	4	CD1A	1	158226752	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1661365	158226752	91023869	55	12395											
NDUFS2	4720	genome.wustl.edu	37	chr1	161179901	161179901	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacttccgtttggcttctagGacctaccccttgggcttatg	5	14	9	13	1	1	0	0	0	1	0	2	1	2	1	4	3	1	3	4	3	3	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:161179901G>T	ENST00000367993.3	+	8	1151	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	NDUFS2_ENST00000476409.2_Splice_Site_p.D137Y|NDUFS2_ENST00000392179.4_Splice_Site_p.D235Y|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	235					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TGGCTTCTAGGACCTACCCCT	0.493											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115	111	112					1																	161179901		2203	4300	6503	SO:0001630	splice_region_variant	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.703-1G>T	1.37:g.161179901G>T		1814	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	p.D235Y	ENST00000367993.3	37	c.703	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376832	0.82682	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409;ENST00000546154	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	NADH-quinone oxidoreductase, subunit D (1);	0.096550	0.64402	D	0.000002	D	0.98298	0.9436	H	0.99842	4.835	0.80722	D	1.000000	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	D	0.99593	1.0976	8	.	.	.	.	17.859	0.88775	0.0:0.0:1.0:0.0	.	184;235;235	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	Y	235;235;137;26	ENSP00000356972:D235Y;ENSP00000376018:D235Y;ENSP00000446447:D137Y	.	D	+	1	0	NDUFS2	159446525	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.868000	0.92320	2.741000	0.93983	0.655000	0.94253	GAC	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	ENSG00000158864		0.493	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	-	0	46	0	G	NM_004550	Missense_Mutation	161179901	1	tier1	-	no_errors	ENST00000367993	ensembl	human	known	74_37	missense	24.07	41	13	SNP	1.000	T	T	161179901	G	T	161179901	5	4	52	1	0	0	0	0	0	0	1	0	10331	1188	41	3	729	3	NDUFS2	1	161179901	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2953149	161179901	88070720	56	12396											
HSPA6	3310	genome.wustl.edu	37	chr1	161496162	161496162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgaagaggacaggcgcaaaAtgcaagacaagtgtcgggaa	16	3	14	8	3	0	2	0	0	0	2	1	5	0	4	1	3	1	2	1	3	6	0	rs452004		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:161496162A>G	ENST00000309758.4	+	1	2127	c.1714A>G	c.(1714-1716)Atg>Gtg	p.M572V	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	572			M -> V (in dbSNP:rs452004).		ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGCGCAAAATGCAAGACAA	0.532													A|||	1	0.000199681	0	0	5008	,	,		21702	0.001		0	False		,,,				2504	0																0													34	32	33					1																	161496162		2203	4300	6503	SO:0001583	missense	0				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"Heat shock proteins / HSP70"	5239	protein-coding gene	gene with protein product		140555	"heat shock 70kD protein 6 (HSP70B')"			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1714A>G	1.37:g.161496162A>G	ENSP00000310219:p.Met572Val		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.M572V	ENST00000309758.4	37	c.1714	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.279385	0.00254	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.10382	2.88	3.28	1.39	0.22231	.	0.376647	0.15137	N	0.278513	T	0.00468	0.0015	N	0.00093	-2.17	0.19945	N	0.999948	B	0.02656	0.0	B	0.01281	0.0	T	0.43507	-0.9387	10	0.13470	T	0.59	.	5.5477	0.17073	0.3746:0.0:0.6254:0.0	rs452004;rs60763008	572	P17066	HSP76_HUMAN	V	572;548	ENSP00000310219:M572V	ENSP00000310219:M572V	M	+	1	0	HSPA6	159762786	0.838000	0.29461	0.046000	0.18839	0.358000	0.29455	1.628000	0.37060	0.121000	0.18284	-0.220000	0.12472	ATG	HSPA6	-	pfam_Hsp_70_fam	ENSG00000173110		0.532	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1		0	44	0	A	NM_002155		161496162	1			no_errors	ENST00000309758	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.562	G	G	161496162	A	G	161496162	3	3	52	1	0	0	0	0	1	0	0	0	7442	101	4	4	1716	4	HSPA6	1	161496162	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	316261	161496162	87754459	57	12397											
POGK	57645	genome.wustl.edu	37	chr1	166818617	166818617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggaccagcgtgtggcCgaatatgtcagatacatgca	10	9	13	9	2	1	1	1	0	0	1	1	3	1	2	2	3	3	1	2	3	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:166818617C>T	ENST00000367875.1	+	5	1161	c.801C>T	c.(799-801)gcC>gcT	p.A267A	POGK_ENST00000536514.1_Silent_p.A182A|POGK_ENST00000367876.4_Silent_p.A267A|POGK_ENST00000537173.1_Silent_p.A149A			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	267	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AGCGTGTGGCCGAATATGTCA	0.582																																					GBM(76;192 1530 30153 48742)												0													38	41	40					1																	166818617		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"-"	18800	protein-coding gene	gene with protein product	"KRAB box domain containing 2"						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.801C>T	1.37:g.166818617C>T			Q5TIJ1|Q8TE07	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.A267	ENST00000367875.1	37	c.801	CCDS1254.1	1																																																																																			POGK	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000143157		0.582	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	-	0	15	0	C	NM_017542		166818617	1	tier1	-	no_errors	ENST00000367875	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.361	T	T	166818617	C	T	166818617	2	4	52	1	0	0	0	0	0	0	0	1	12224	639	23	1		1	POGK	1	166818617	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5322455	166818617	82432004	58	12398											
MPZL1	9019	genome.wustl.edu	37	chr1	167734970	167734970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcttccagccagagggggCcgacactactgtgtcggtaa	9	7	14	11	2	0	1	0	0	0	1	2	3	1	1	3	3	3	2	3	3	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:167734970C>G	ENST00000359523.2	+	2	444	c.242C>G	c.(241-243)gCc>gGc	p.A81G	MPZL1_ENST00000392121.3_Missense_Mutation_p.A81G|MPZL1_ENST00000474859.1_Missense_Mutation_p.A81G	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	81	Ig-like V-type.				cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CCAGAGGGGGCCGACACTACT	0.502																																																	0													46	45	45					1																	167734970		2203	4300	6503	SO:0001583	missense	0			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.242C>G	1.37:g.167734970C>G	ENSP00000352513:p.Ala81Gly		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.A81G	ENST00000359523.2	37	c.242	CCDS1264.1	1	.	.	.	.	.	.	.	.	.	.	C	3.119	-0.181032	0.06380	.	.	ENSG00000197965	ENST00000359523;ENST00000392121;ENST00000474859;ENST00000367853	T;D;T;T	0.94330	-0.15;-3.4;-0.15;-0.15	4.79	4.79	0.61399	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.726220	0.13340	N	0.395259	T	0.78123	0.4234	N	0.11427	0.14	0.31405	N	0.67625	B;B;B	0.23735	0.073;0.021;0.09	B;B;B	0.27715	0.049;0.049;0.082	T	0.69514	-0.5125	9	0.02654	T	1	.	18.7275	0.91720	0.0:1.0:0.0:0.0	.	81;81;81	B2REC0;O95297-3;O95297	.;.;MPZL1_HUMAN	G	81;81;81;55	ENSP00000352513:A81G;ENSP00000375968:A81G;ENSP00000420455:A81G;ENSP00000356827:A55G	ENSP00000352513:A81G	A	+	2	0	MPZL1	166001594	0.004000	0.15560	0.019000	0.16419	0.215000	0.24574	1.933000	0.40153	2.615000	0.88500	0.655000	0.94253	GCC	MPZL1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	ENSG00000197965		0.502	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	-	0	32	0	C	NM_024569		167734970	1	tier1	-	no_errors	ENST00000359523	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.105	G	G	167734970	C	G	167734970	3	3	52	1	0	0	0	0	1	0	0	0	9787	739	26	5	248	5	MPZL1	1	167734970	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	916353	167734970	81515651	59	12399											
SLC9A11	284525	genome.wustl.edu	37	chr1	173526482	173526482	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatgatctttcctaccatTtgtggtacttccacttttcg	7	17	6	11	1	1	1	0	1	1	0	4	2	3	1	3	1	2	1	3	1	2	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:173526482T>C	ENST00000367714.3	-	10	1634	c.1212A>G	c.(1210-1212)caA>caG	p.Q404Q	SLC9C2_ENST00000536496.1_Silent_p.Q302Q|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	404					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTCCTACCATTTGTGGTACTT	0.368																																																	0													94	103	100					1																	173526482		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1212A>G	1.37:g.173526482T>C			Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q404	ENST00000367714.3	37	c.1212	CCDS1308.1	1																																																																																			SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.368	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	-	0	24	0	T	NM_178527		173526482	-1	tier1	-	no_errors	ENST00000367714	ensembl	human	known	74_37	silent	57.89	16	22	SNP	0.052	C	C	173526482	T	C	173526482	2	2	52	1	0	0	0	0	0	0	0	1	14756	1838	64	4		4	SLC9A11	1	173526482	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	5791512	173526482	75724139	60	12400											
SLC9A11	284525	genome.wustl.edu	37	chr1	173567087	173567087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaaattctacatccaaagCaaccataaatataattaaag	22	10	2	7	0	1	0	0	0	1	0	2	0	2	0	2	0	3	1	2	0	11	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:173567087C>A	ENST00000367714.3	-	4	735	c.313G>T	c.(313-315)Gct>Tct	p.A105S	SLC9C2_ENST00000536496.1_Missense_Mutation_p.A3S|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	105					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ACATCCAAAGCAACCATAAAT	0.318																																																	0													88	93	91					1																	173567087		2203	4297	6500	SO:0001583	missense	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"Solute carriers"	28664	protein-coding gene	gene with protein product			"solute carrier family 9, isoform 11", "solute carrier family 9, member 11", "solute carrier family 9, member C2"	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.313G>T	1.37:g.173567087C>A	ENSP00000356687:p.Ala105Ser		Q86UF3	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.A105S	ENST00000367714.3	37	c.313	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263788	0.39995	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.15487	2.42;2.42	5.51	4.58	0.56647	Cation/H+ exchanger (1);	0.000000	0.53938	D	0.000050	T	0.12689	0.0308	L	0.51422	1.61	0.25789	N	0.984639	P	0.51240	0.943	P	0.52909	0.713	T	0.06862	-1.0803	10	0.30854	T	0.27	-25.2812	11.5011	0.50437	0.1796:0.8204:0.0:0.0	.	105	Q5TAH2	S9A11_HUMAN	S	105;3	ENSP00000356687:A105S;ENSP00000445437:A3S	ENSP00000356687:A105S	A	-	1	0	SLC9A11	171833710	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.980000	0.29513	1.306000	0.44926	0.543000	0.68304	GCT	SLC9C2	-	pfam_Cation/H_exchanger	ENSG00000162753		0.318	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1		0	19	0	C	NM_178527		173567087	-1			no_errors	ENST00000367714	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	173567087	C	A	173567087	3	1	52	1	0	0	0	0	1	0	0	0	14756	710	25	3	3161	3	SLC9A11	1	173567087	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	40605	173567087	75683534	61	12401											
KLHL20	27252	genome.wustl.edu	37	chr1	173703092	173703092	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgagtcattttgtcagcCtgtagtccctacttccgagc	7	13	8	13	2	2	0	2	0	0	0	5	2	4	0	3	0	3	1	3	0	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:173703092C>A	ENST00000209884.4	+	3	400	c.264C>A	c.(262-264)gcC>gcA	p.A88A	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TTTTGTCAGCCTGTAGTCCCT	0.483																																					GBM(159;862 2695 6559 23041)												0													135	120	125					1																	173703092		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.264C>A	1.37:g.173703092C>A			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A88	ENST00000209884.4	37	c.264	CCDS1310.1	1																																																																																			KLHL20	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000076321		0.483	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	-	0	91	0	C	NM_014458		173703092	1	tier1	-	no_errors	ENST00000209884	ensembl	human	known	74_37	silent	51.52	48	51	SNP	1.000	A	A	173703092	C	A	173703092	2	1	52	1	0	0	0	0	0	0	0	1	8402	668	24	3		3	KLHL20	1	173703092	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	136005	173703092	75547529	62	12402											
TNN	63923	genome.wustl.edu	37	chr1	175097224	175097224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaggccttgagcaaggCgccacctaccctgtctccct	7	9	9	16	1	1	1	0	1	1	0	2	1	1	1	5	2	3	2	5	2	3	3	rs528565931	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:175097224C>T	ENST00000239462.4	+	14	3215	c.3102C>T	c.(3100-3102)ggC>ggT	p.G1034G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1034	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTGAGCAAGGCGCCACCTACC	0.527													C|||	2	0.000399361	0.0015	0	5008	,	,		20402	0		0	False		,,,				2504	0																0													120	99	106					1																	175097224		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3102C>T	1.37:g.175097224C>T			B9EGP3|Q5R360	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.G1034	ENST00000239462.4	37	c.3102	CCDS30943.1	1																																																																																			TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.527	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	38	0	C	XM_040527		175097224	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	silent	50.72	34	35	SNP	0.000	T	T	175097224	C	T	175097224	2	4	52	1	0	0	0	0	0	0	0	1	16370	755	27	1		1	TNN	1	175097224	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1394132	175097224	74153397	63	12403											
TNR	7143	genome.wustl.edu	37	chr1	175360447	175360447	+	Frame_Shift_Del	DEL	G	G	-																															tggagacgctggccgaggtaGgggggctgcgggcctgttct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:175360447delG	ENST00000367674.2	-	7	2192	c.1484delC	c.(1483-1485)cctfs	p.P495fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.P495fs			Q92752	TENR_HUMAN	tenascin R	495	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCCGAGGTAGGGGGGCTGCG	0.552																																																	0													67	71	70					1																	175360447		2203	4300	6503	SO:0001589	frameshift_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1484delC	1.37:g.175360447delG	ENSP00000356646:p.Pro495fs		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.P495fs	ENST00000367674.2	37	c.1484	CCDS1318.1	1																																																																																			TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4		0	36	0	G	NM_003285		175360447	-1	tier1		no_errors	ENST00000263525	ensembl	human	known	74_37	frame_shift_del	58.82	21	30	DEL	1.000	-	-	175360447	G	-	175360447	7	5	52	1	0	1	0	1	0	0	0	0	16385	1000	35	0	2660	0	TNR	1	175360447	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	263223	175360447	73890174	64	12404											
PAPPA2	60676	genome.wustl.edu	37	chr1	176526097	176526097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgggcagggagactcCggtatctcttcacatttcca	10	10	11	10	1	2	2	1	0	1	2	5	4	4	2	2	3	0	2	2	3	2	3	rs371392086		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:176526097C>T	ENST00000367662.3	+	2	1803	c.639C>T	c.(637-639)tcC>tcT	p.S213S	PAPPA2_ENST00000367661.3_Silent_p.S213S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	213					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGGGAGACTCCGGTATCTCTT	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		14145	0		0	False		,,,				2504	0																0								C	,	1,3983		0,1,1991	91	98	96		639,639	-5.1	0	1		96	0,8302		0,0,4151	no	coding-synonymous,coding-synonymous	PAPPA2	NM_020318.2,NM_021936.2	,	0,1,6142	TT,TC,CC		0.0,0.0251,0.0081	,	213/1792,213/828	176526097	1,12285	1992	4151	6143	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.639C>T	1.37:g.176526097C>T			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.S213	ENST00000367662.3	37	c.639	CCDS41438.1	1																																																																																			PAPPA2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000116183		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	30	0	C			176526097	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	34.38	21	11	SNP	0.000	T	T	176526097	C	T	176526097	2	4	52	1	0	0	0	0	0	0	0	1	11472	639	23	1		1	PAPPA2	1	176526097	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1165650	176526097	72724524	65	12405											
FAM20B	9917	genome.wustl.edu	37	chr1	179041052	179041052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taactttttctcccagcattCgggtgtccacctggaacaga	9	12	8	12	1	1	1	0	0	1	1	4	2	2	2	3	2	3	1	3	2	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:179041052C>T	ENST00000263733.4	+	8	1339	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	335						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TCCCAGCATTCGGGTGTCCAC	0.433																																																	0													105	111	109					1																	179041052		2203	4300	6503	SO:0001583	missense	0			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.1003C>T	1.37:g.179041052C>T	ENSP00000263733:p.Arg335Trp		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	pfam_DUF1193	p.R335W	ENST00000263733.4	37	c.1003	CCDS1328.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901689	0.92035	.	.	ENSG00000116199	ENST00000263733	D	0.82526	-1.62	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.92011	0.7469	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93142	0.6542	10	0.87932	D	0	-21.3996	17.2548	0.87052	0.0:1.0:0.0:0.0	.	335	O75063	XYLK_HUMAN	W	335	ENSP00000263733:R335W	ENSP00000263733:R335W	R	+	1	2	FAM20B	177307675	1.000000	0.71417	0.999000	0.59377	0.891000	0.51852	4.051000	0.57412	2.484000	0.83849	0.655000	0.94253	CGG	FAM20B	-	pfam_DUF1193	ENSG00000116199		0.433	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	-	0	29	0	C	NM_014864		179041052	1	tier1	-	no_errors	ENST00000263733	ensembl	human	known	74_37	missense	37.84	22	14	SNP	1.000	T	T	179041052	C	T	179041052	3	4	52	1	0	0	0	0	1	0	0	0	5557	875	31	1	1029	1	FAM20B	1	179041052	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2514955	179041052	70209569	66	12406											
TDRD5	163589	genome.wustl.edu	37	chr1	179638527	179638527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatgattccgcagaaaagCcctctggttctggtatgttt	8	14	11	8	1	2	2	0	1	2	1	3	3	3	3	2	3	1	4	2	3	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:179638527C>T	ENST00000367614.1	+	16	3045	c.2686C>T	c.(2686-2688)Ccc>Tcc	p.P896S	TDRD5_ENST00000444136.1_Missense_Mutation_p.P950S|TDRD5_ENST00000294848.8_Missense_Mutation_p.P896S	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	896					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CGCAGAAAAGCCCTCTGGTTC	0.458																																																	0													137	116	123					1																	179638527		2203	4300	6503	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2686C>T	1.37:g.179638527C>T	ENSP00000356586:p.Pro896Ser		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.P950S	ENST00000367614.1	37	c.2848	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	C	4.777	0.144563	0.09134	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.28069	2.86;2.86;3.03;1.63	5.38	1.35	0.21983	.	0.710006	0.12530	N	0.460852	T	0.14184	0.0343	N	0.08118	0	0.09310	N	1	B;B	0.23990	0.095;0.057	B;B	0.21917	0.037;0.01	T	0.21314	-1.0249	10	0.54805	T	0.06	-6.941	4.8082	0.13329	0.0:0.5814:0.1562:0.2624	.	950;896	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	S	896;896;950;406	ENSP00000356586:P896S;ENSP00000294848:P896S;ENSP00000406052:P950S;ENSP00000410744:P406S	ENSP00000294848:P896S	P	+	1	0	TDRD5	177905150	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.374000	0.20501	-0.001000	0.14495	-0.142000	0.14014	CCC	TDRD5	-	NULL	ENSG00000162782		0.458	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	-	0	106	0	C	NM_173533		179638527	1	tier1	-	no_errors	ENST00000444136	ensembl	human	known	74_37	missense	38.71	57	36	SNP	0.000	T	T	179638527	C	T	179638527	3	4	52	1	0	0	0	0	1	0	0	0	15780	739	26	3	2744	3	TDRD5	1	179638527	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	597475	179638527	69612094	67	12407											
ARPC5	10092	genome.wustl.edu	37	chr1	183599769	183599769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagacaatgctgcctgcccGgtcctggtgggtcaataaat	10	9	11	11	1	1	1	1	0	0	1	2	1	2	1	3	3	3	1	3	3	5	1	rs369978826		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:183599769G>A	ENST00000359856.6	-	3	286	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ARPC5_ENST00000367534.1_Missense_Mutation_p.R74W|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000294742.6_Missense_Mutation_p.R77W	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	74					actin cytoskeleton organization (GO:0030036)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|large_intestine(1)|lung(2)	4						CTGCCTGCCCGGTCCTGGTGG	0.388																																					Melanoma(136;1596 1789 3041 4830 41075)												0								G	TRP/ARG	0,4396		0,0,2198	60	62	62		220	5.8	1	1		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARPC5	NM_005717.2	101	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	74/152	183599769	1,12995	2198	4300	6498	SO:0001583	missense	0			AF017807	CCDS1357.1, CCDS58050.1	1q	2011-07-06	2002-08-29		ENSG00000162704	ENSG00000162704		"Actin related protein 2/3 complex subunits"	708	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p16"	604227	"actin related protein 2/3 complex, subunit 5 (16 kD)"			9359840, 9230079	Standard	NM_005717		Approved	p16-Arc, ARC16, dJ127C7.3	uc021pgb.2	O15511	OTTHUMG00000035326	ENST00000359856.6:c.220C>T	1.37:g.183599769G>A	ENSP00000352918:p.Arg74Trp		A6NEC4|Q6PG42	Missense_Mutation	SNP	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	p.R77W	ENST00000359856.6	37	c.229	CCDS1357.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.575508	0.96553	0.0	1.16E-4	ENSG00000162704	ENST00000367534;ENST00000359856;ENST00000294742	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.82843	0.5125	M	0.82923	2.615	0.80722	D	1	D	0.67145	0.996	P	0.61874	0.895	D	0.84536	0.0636	9	0.72032	D	0.01	-4.1388	20.008	0.97439	0.0:0.0:1.0:0.0	.	74	O15511	ARPC5_HUMAN	W	74;74;77	.	ENSP00000294742:R77W	R	-	1	2	ARPC5	181866392	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	9.689000	0.98673	2.727000	0.93392	0.650000	0.86243	CGG	ARPC5	-	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	ENSG00000162704		0.388	ARPC5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARPC5	HGNC	protein_coding	OTTHUMT00000085477.1	-	0	24	0	G	NM_005717		183599769	-1	tier1	-	no_errors	ENST00000294742	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A	A	183599769	G	A	183599769	3	1	52	1	0	0	0	0	1	0	0	0	975	1115	39	1	243	1	ARPC5	1	183599769	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3961242	183599769	65650852	68	12408											
C1orf26	54823	genome.wustl.edu	37	chr1	185151134	185151134	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaagtgtggatttaccTggagagttaatgagtatgga	14	11	14	2	0	0	2	0	1	0	1	0	6	0	5	1	4	1	2	1	4	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:185151134T>A	ENST00000367500.4	+	7	1248	c.1083T>A	c.(1081-1083)ccT>ccA	p.P361P	SWT1_ENST00000367501.3_Silent_p.P361P	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	361										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGGATTTACCTGGAGAGTTAA	0.393																																																	0													190	168	176					1																	185151134		2203	4300	6503	SO:0001819	synonymous_variant	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1083T>A	1.37:g.185151134T>A			Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	smart_PIN_dom	p.P361	ENST00000367500.4	37	c.1083	CCDS1367.1	1																																																																																			SWT1	-	NULL	ENSG00000116668		0.393	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	-	0	30	0	T	NM_017673		185151134	1	tier1	-	no_errors	ENST00000367500	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.992	A	A	185151134	T	A	185151134	2	1	52	1	0	0	0	0	0	0	0	1	2042	1567	55	5		5	C1orf26	1	185151134	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1551365	185151134	64099487	69	12409											
KCNT2	343450	genome.wustl.edu	37	chr1	196392230	196392230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgagaataaaacaggcctCagcgtcatccatcctaaata	16	8	6	11	1	2	1	2	1	0	1	4	2	4	1	3	1	2	0	3	1	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:196392230C>T	ENST00000294725.9	-	12	2050	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	KCNT2_ENST00000367431.4_Missense_Mutation_p.E379K|KCNT2_ENST00000367433.5_Missense_Mutation_p.E379K|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.E379K|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	379					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAACAGGCCTCAGCGTCATCC	0.338																																																	0													61	56	58					1																	196392230		2202	4298	6500	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1135G>A	1.37:g.196392230C>T	ENSP00000294725:p.Glu379Lys		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.E379K	ENST00000294725.9	37	c.1135	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514374	0.64522	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.69175	-0.38;-0.38;-0.38	5.38	5.38	0.77491	NAD(P)-binding domain (1);	0.102055	0.43747	D	0.000535	T	0.58452	0.2123	N	0.26162	0.8	0.80722	D	1	B;B;B;B	0.30605	0.287;0.193;0.007;0.287	B;B;B;B	0.33454	0.052;0.164;0.022;0.052	T	0.54827	-0.8235	10	0.32370	T	0.25	-18.9797	19.4967	0.95075	0.0:1.0:0.0:0.0	.	379;379;379;379	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	K	379;379;200;379	ENSP00000356403:E379K;ENSP00000356401:E379K;ENSP00000294725:E379K	ENSP00000294725:E379K	E	-	1	0	KCNT2	194658853	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	7.776000	0.85560	2.678000	0.91216	0.585000	0.79938	GAG	KCNT2	-	NULL	ENSG00000162687		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	42	0	C	NM_198503		196392230	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	56.00	22	28	SNP	1.000	T	T	196392230	C	T	196392230	3	4	52	1	0	0	0	0	1	0	0	0	8119	835	29	3	2340	3	KCNT2	1	196392230	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	11241096	196392230	52858391	70	12410											
C1orf106	55765	genome.wustl.edu	37	chr1	200870139	200870141	+	In_Frame_Del	DEL	GGA	GGA	-																															gcagcccgtcggctgtgcctGgaggagaacctcagcaggca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:200870139_200870141delGGA	ENST00000367342.4	+	5	827_829	c.627_629delGGA	c.(625-630)ctggag>ctg	p.E211del	C1orf106_ENST00000413687.2_In_Frame_Del_p.E126del	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	211										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GGCTGTGCCTGGAGGAGAACCTC	0.68																																																	0																																										SO:0001651	inframe_deletion	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.627_629delGGA	1.37:g.200870142_200870144delGGA	ENSP00000356311:p.Glu211del		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	In_Frame_Del	DEL	pfam_DUF3338	p.E211in_frame_del	ENST00000367342.4	37	c.627_629		1																																																																																			C1orf106	-	pfam_DUF3338	ENSG00000163362		0.68	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2		0	33	0	GGA	NM_018265		200870141	1	tier1		no_errors	ENST00000367342	ensembl	human	known	74_37	in_frame_del	42.86	24	18	DEL	0.398:0.985:1.000	-	-	200870141	GGA	-	200870139	7	5	52	1	0	1	0	1	0	0	0	0	1987	1335	47	0	645	0	C1orf106	1	200870139	In_Frame_Del	DEL	GGA	TCGA-L5-A43J-01A-12D-A247-09	4477909	200870139	48380482	71	12411											
SYT2	127833	genome.wustl.edu	37	chr1	202574790	202574790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatgtcctcctggctctcCccagcacccccactctcagt	7	9	5	20	0	2	0	1	0	2	0	6	0	4	0	6	1	2	2	6	1	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:202574790C>T	ENST00000367267.1	-	2	303	c.111G>A	c.(109-111)ggG>ggA	p.G37G	SYT2_ENST00000367268.4_Silent_p.G37G|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	37					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CCTGGCTCTCCCCAGCACCCC	0.547																																																	0													68	66	67					1																	202574790		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.111G>A	1.37:g.202574790C>T			Q496K5|Q8NBE5	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.G37	ENST00000367267.1	37	c.111	CCDS1427.1	1																																																																																			SYT2	-	NULL	ENSG00000143858		0.547	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	HGNC	protein_coding	OTTHUMT00000099157.1	-	0	105	0	C	NM_177402		202574790	-1	tier1	-	no_errors	ENST00000367267	ensembl	human	known	74_37	silent	46.33	94	82	SNP	0.097	T	T	202574790	C	T	202574790	2	4	52	1	0	0	0	0	0	0	0	1	15521	610	22	3		3	SYT2	1	202574790	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1704651	202574790	46675831	72	12412											
FMOD	2331	genome.wustl.edu	37	chr1	203316470	203316470	+	Frame_Shift_Del	DEL	G	G	-																															tctccaggttggtgttgactGgggggatcttctgcagctgg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:203316470delG	ENST00000354955.4	-	2	1392	c.929delC	c.(928-930)ccafs	p.P310fs	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	310					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.P310R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTGTTGACTGGGGGGATCTT	0.527																																																	1	Substitution - Missense(1)	ovary(1)											145	135	138					1																	203316470		2203	4300	6503	SO:0001589	frameshift_variant	0			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3774	protein-coding gene	gene with protein product	"fibromodulin proteoglycan"	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.929delC	1.37:g.203316470delG	ENSP00000347041:p.Pro310fs		Q15331|Q8IV47	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P310fs	ENST00000354955.4	37	c.929	CCDS30976.1	1																																																																																			FMOD	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000122176		0.527	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMOD	HGNC	protein_coding	OTTHUMT00000087472.1		0	30	0	G	NM_002023		203316470	-1	tier1		no_errors	ENST00000354955	ensembl	human	known	74_37	frame_shift_del	22.58	24	7	DEL	0.400	-	-	203316470	G	-	203316470	7	5	52	1	0	1	0	1	0	0	0	0	5981	1348	47	0	209	0	FMOD	1	203316470	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	741680	203316470	45934151	73	12413											
REN	5972	genome.wustl.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309|rs121917743		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																																	0																																										SO:0001651	inframe_deletion	0			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del		Q6FI38|Q6T5C2	In_Frame_Del	DEL	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L16in_frame_del	ENST00000272190.8	37	c.47_45	CCDS30981.1	1																																																																																			REN	-	superfamily_Peptidase_aspartic_dom	ENSG00000143839		0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1		0	52	0	AGC	NM_000537		204135377	-1	tier1		no_errors	ENST00000272190	ensembl	human	known	74_37	in_frame_del	13.43	58	9	DEL	0.984:0.987:0.989	-	-	204135377	AGC	-	204135375	7	5	52	1	0	1	0	1	0	0	0	0	13269	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-L5-A43J-01A-12D-A247-09	818905	204135375	45115246	74	12414											
HSD11B1	3290	genome.wustl.edu	37	chr1	209880402	209880402	+	Frame_Shift_Del	DEL	T	T	-																															caacttcctcagttacgtggTcctgactgtagctgccttgc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:209880402delT	ENST00000367028.2	+	5	615	c.446delT	c.(445-447)gtcfs	p.V149fs	HSD11B1_ENST00000367027.3_Frame_Shift_Del_p.V149fs|HSD11B1_ENST00000261465.1_Frame_Shift_Del_p.V149fs|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	149					glucocorticoid biosynthetic process (GO:0006704)|lung development (GO:0030324)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	11-beta-hydroxysteroid dehydrogenase (NADP+) activity (GO:0070524)|11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	Prednisone(DB00635)	AGTTACGTGGTCCTGACTGTA	0.473																																																	0													162	139	147					1																	209880402		2203	4300	6503	SO:0001589	frameshift_variant	0			BC012593	CCDS1489.1	1q32-q41	2011-09-20			ENSG00000117594	ENSG00000117594	1.1.1.146	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5208	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 26C, member 1"	600713		HSD11B, HSD11		1885595, 19027726	Standard	NM_005525		Approved	SDR26C1	uc001hhk.3	P28845	OTTHUMG00000036481	ENST00000367028.2:c.446delT	1.37:g.209880402delT	ENSP00000355995:p.Val149fs		B2R9Z1|D3DT89	Frame_Shift_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.V149fs	ENST00000367028.2	37	c.446	CCDS1489.1	1																																																																																			HSD11B1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000117594		0.473	HSD11B1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B1	HGNC	protein_coding	OTTHUMT00000088743.2		0	20	0	T	NM_005525		209880402	1	tier1		no_errors	ENST00000261465	ensembl	human	known	74_37	frame_shift_del	30.00	14	6	DEL	0.998	-	-	209880402	T	-	209880402	7	5	52	1	0	1	0	1	0	0	0	0	7402	1667	58	0	460	0	HSD11B1	1	209880402	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	5745027	209880402	39370219	75	12415											
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220327392	220327392	+	Frame_Shift_Del	DEL	T	T	-																															ttaggtctttgaaaaatgcaTtttttccctaaaaagaaaga																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:220327392delT	ENST00000358951.2	-	32	3679	c.3563delA	c.(3562-3564)aatfs	p.N1188fs		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1188					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GAAAAATGCATTTTTTCCCTA	0.328																																																	0													87	95	92					1																	220327392		2201	4300	6501	SO:0001589	frameshift_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3563delA	1.37:g.220327392delT	ENSP00000351832:p.Asn1188fs		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.N1188fs	ENST00000358951.2	37	c.3563	CCDS31028.1	1																																																																																			RAB3GAP2	-	NULL	ENSG00000118873		0.328	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2		0	35	0	T	NM_012414		220327392	-1	tier1		no_errors	ENST00000358951	ensembl	human	known	74_37	frame_shift_del	26.00	37	13	DEL	1.000	-	-	220327392	T	-	220327392	7	5	52	1	0	1	0	1	0	0	0	0	12981	1493	52	0	634	0	RAB3GAP2	1	220327392	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	10446990	220327392	28923229	76	12416											
LEFTY1	10637	genome.wustl.edu	37	chr1	226075158	226075158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccccaagcccggctggCgccccctgcgaggcaaagcg	6	3	14	18	4	0	0	0	0	0	0	1	1	1	0	5	4	3	3	5	4	2	0	rs145906534		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:226075158C>T	ENST00000272134.5	-	3	757	c.678G>A	c.(676-678)gcG>gcA	p.A226A	LEFTY1_ENST00000492457.1_5'Flank|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.A335T	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	226					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCCCGGCTGGCGCCCCCTGCG	0.672																																																	0													22	27	25					1																	226075158		2201	4294	6495	SO:0001819	synonymous_variant	0			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"left-right determination, factor B"	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.678G>A	1.37:g.226075158C>T			B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	superfamily_6-PGluconate_DH_C-like	p.A335T	ENST00000272134.5	37	c.1003	CCDS1548.1	1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269728	0.23221	.	.	ENSG00000255835	ENST00000432920	T	0.81415	-1.49	3.69	-7.37	0.01412	.	0.527879	0.21087	N	0.080392	T	0.60792	0.2296	.	.	.	0.19300	N	0.999976	B	0.06786	0.001	B	0.01281	0.0	T	0.43327	-0.9398	9	0.87932	D	0	.	2.6792	0.05089	0.4854:0.1126:0.2519:0.1502	.	335	E7EUD8	.	T	335	ENSP00000414068:A335T	ENSP00000414068:A335T	A	-	1	0	RP4-559A3.7	224141781	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.451000	0.06795	-1.644000	0.01517	0.313000	0.20887	GCC	RP4-559A3.7	-	NULL	ENSG00000255835		0.672	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255835	Clone_based_vega_gene	protein_coding	OTTHUMT00000091155.1	-	0	24	0	C	NM_020997		226075158	-1	tier1	-	no_errors	ENST00000432920	ensembl	human	putative	74_37	missense	25.93	20	7	SNP	0.000	T	T	226075158	C	T	226075158	2	4	52	1	0	0	0	0	0	0	0	1	8743	755	27	1		1	LEFTY1	1	226075158	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5747766	226075158	23175463	77	12417											
PYCR2	29920	genome.wustl.edu	37	chr1	226111805	226111805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccccgatgaagcccacGctcatggtccgcggttcacg	6	6	12	17	6	2	1	2	1	0	0	3	2	3	1	5	3	1	2	5	3	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:226111805G>C	ENST00000343818.6	-	1	154	c.6C>G	c.(4-6)agC>agG	p.S2R	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.S2R	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	2					L-proline biosynthetic process (GO:0055129)	cytoplasm (GO:0005737)	pyrroline-5-carboxylate reductase activity (GO:0004735)			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)	TGAAGCCCACGCTCATGGTCC	0.726																																																	0													4	7	6					1																	226111805		2067	4081	6148	SO:0001583	missense	0			AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811			30262	protein-coding gene	gene with protein product						12477932	Standard	NM_013328		Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.6C>G	1.37:g.226111805G>C	ENSP00000342502:p.Ser2Arg		A8K798|Q7Z515|Q9Y5J4	Missense_Mutation	SNP	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.S2R	ENST00000343818.6	37	c.6	CCDS31043.1	1	.	.	.	.	.	.	.	.	.	.	g	22.7	4.320244	0.81469	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	T;T	0.60920	0.15;0.15	4.6	3.68	0.42216	NAD(P)-binding domain (1);	0.040110	0.85682	D	0.000000	T	0.53965	0.1829	N	0.20483	0.58	0.51233	D	0.999914	P;D	0.60575	0.874;0.988	P;D	0.64595	0.849;0.927	T	0.49916	-0.8888	10	0.28530	T	0.3	-18.4794	7.1741	0.25734	0.1994:0.0:0.8005:0.0	.	2;2	E7EUD8;Q96C36	.;P5CR2_HUMAN	R	2	ENSP00000414068:S2R;ENSP00000342502:S2R	ENSP00000321781:S2R	S	-	3	2	PYCR2;RP4-559A3.7	224178428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.893000	0.28336	1.290000	0.44636	0.655000	0.94253	AGC	PYCR2	-	pirsf_Pyrroline-COOH_reductase	ENSG00000143811		0.726	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR2	HGNC	protein_coding	OTTHUMT00000091314.1	-	0	8	0	G	NM_013328		226111805	-1	tier1	-	no_errors	ENST00000343818	ensembl	human	known	74_37	missense	37.50	10	6	SNP	1.000	C	C	226111805	G	C	226111805	3	2	52	1	0	0	0	0	1	0	0	0	12901	1078	38	5	984	5	PYCR2	1	226111805	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	36647	226111805	23138816	78	12418											
OBSCN	84033	genome.wustl.edu	37	chr1	228496835	228496835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagcccctgcaggacGtgcagctcagtgagggccag	7	6	15	13	1	1	1	1	1	0	0	2	3	2	3	4	3	4	3	4	3	0	0	rs560506912		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:228496835G>A	ENST00000422127.1	+	48	12819	c.12775G>A	c.(12775-12777)Gtg>Atg	p.V4259M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V4259M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V5216M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1893M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V1378M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4259	Ig-like 44.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGCAGGACGTGCAGCTCAG	0.657																																																	0													17	19	18					1																	228496835		2018	4194	6212	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12775G>A	1.37:g.228496835G>A	ENSP00000409493:p.Val4259Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V4259M	ENST00000422127.1	37	c.12775	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.213805	0.58452	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.27	-1.47	0.08772	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.496040	0.04184	N	0.327093	T	0.71921	0.3397	L	0.39633	1.23	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.66847	0.947;0.849	T	0.57069	-0.7874	10	0.33940	T	0.23	.	1.2769	0.02032	0.3288:0.1384:0.3908:0.1421	.	4259;4259	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	4259;4259;1893;1378	ENSP00000284548:V4259M;ENSP00000409493:V4259M;ENSP00000355668:V1893M;ENSP00000355670:V1378M	ENSP00000284548:V4259M	V	+	1	0	OBSCN	226563458	0.000000	0.05858	0.001000	0.08648	0.545000	0.35147	-0.133000	0.10451	-0.475000	0.06852	0.561000	0.74099	GTG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000154358		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	23	0	G	NM_052843		228496835	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.002	A	A	228496835	G	A	228496835	3	1	52	1	0	0	0	0	1	0	0	0	10851	1145	40	1	12961	1	OBSCN	1	228496835	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2385030	228496835	20753786	79	12419											
NID1	4811	genome.wustl.edu	37	chr1	236141179	236141179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgtcttcatttctgttcGatacagtcaactcccaaggt	8	16	6	11	1	5	0	2	0	3	0	7	1	6	0	1	1	2	1	1	1	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:236141179G>A	ENST00000264187.6	-	20	3814	c.3732C>T	c.(3730-3732)atC>atT	p.I1244I	NID1_ENST00000366595.3_Silent_p.I1111I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1244	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.I1244I(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	ATTTCTGTTCGATACAGTCAA	0.502																																																	1	Substitution - coding silent(1)	large_intestine(1)											113	109	110					1																	236141179		2203	4300	6503	SO:0001819	synonymous_variant	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.3732C>T	1.37:g.236141179G>A			Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.I1244	ENST00000264187.6	37	c.3732	CCDS1608.1	1																																																																																			NID1	-	smart_EG-like_dom	ENSG00000116962		0.502	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0	24	0	G	NM_002508		236141179	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.039	A	A	236141179	G	A	236141179	2	1	52	1	0	0	0	0	0	0	0	1	10453	1048	37	1		1	NID1	1	236141179	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	7644344	236141179	13109442	80	12420											
ERO1LB	56605	genome.wustl.edu	37	chr1	236399648	236399648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctttatagccagtgtaacGctctgggttcagcaataggt	9	12	10	10	1	2	0	1	0	1	0	2	0	2	0	2	2	3	4	2	2	5	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:236399648G>A	ENST00000354619.5	-	7	757	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	186					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	CCAGTGTAACGCTCTGGGTTC	0.433																																																	0													148	153	151					1																	236399648		2203	4300	6503	SO:0001583	missense	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.556C>T	1.37:g.236399648G>A	ENSP00000346635:p.Arg186Cys		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	pfam_Ero1,pirsf_Ero1	p.R186C	ENST00000354619.5	37	c.556	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108721	0.77096	.	.	ENSG00000086619	ENST00000354619;ENST00000366589	T;T	0.52754	0.65;0.65	5.9	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83344	-0.0006	10	0.87932	D	0	-16.1597	14.17	0.65503	0.0:0.0:0.7314:0.2686	.	186	Q86YB8	ERO1B_HUMAN	C	186;67	ENSP00000346635:R186C;ENSP00000355548:R67C	ENSP00000346635:R186C	R	-	1	0	ERO1LB	234466271	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.520000	0.67080	2.786000	0.95864	0.563000	0.77884	CGT	ERO1LB	-	pfam_Ero1,pirsf_Ero1	ENSG00000086619		0.433	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	-	0	39	0	G	NM_019891		236399648	-1	tier1	-	no_errors	ENST00000354619	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	A	A	236399648	G	A	236399648	3	1	52	1	0	0	0	0	1	0	0	0	5256	1087	38	1	887	1	ERO1LB	1	236399648	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	258469	236399648	12850973	81	12421											
OR13G1	441933	genome.wustl.edu	37	chr1	247836052	247836052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccatgtgaacaagaagaGctgggacatgcagcctgcat	14	6	12	9	0	0	4	0	1	0	3	0	5	0	5	2	1	5	3	2	1	3	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr1:247836052G>C	ENST00000359688.2	-	1	313	c.292C>G	c.(292-294)Ctc>Gtc	p.L98V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AACAAGAAGAGCTGGGACATG	0.473																																																	0													82	67	72					1																	247836052		2203	4300	6503	SO:0001583	missense	0			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"GPCR / Class A : Olfactory receptors"	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.292C>G	1.37:g.247836052G>C	ENSP00000352717:p.Leu98Val		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L98V	ENST00000359688.2	37	c.292	CCDS31094.1	1	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539694	0.27563	.	.	ENSG00000197437	ENST00000359688	T	0.00414	7.52	4.2	-1.74	0.08056	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001348	T	0.00328	0.0010	L	0.47190	1.495	0.09310	N	1	P	0.36125	0.538	P	0.44897	0.463	T	0.49234	-0.8961	10	0.54805	T	0.06	-36.799	1.2693	0.02017	0.1742:0.1398:0.2582:0.4278	.	98	Q8NGZ3	O13G1_HUMAN	V	98	ENSP00000352717:L98V	ENSP00000352717:L98V	L	-	1	0	OR13G1	245902675	0.000000	0.05858	0.023000	0.16930	0.842000	0.47809	-0.360000	0.07622	-0.433000	0.07286	0.563000	0.77884	CTC	OR13G1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197437		0.473	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13G1	HGNC	protein_coding	OTTHUMT00000096869.1	-	0	34	0	G	NM_001005487		247836052	-1	tier1	-	no_errors	ENST00000359688	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.058	C	C	247836052	G	C	247836052	3	2	52	1	0	0	0	0	1	0	0	0	10981	971	34	5	635	5	OR13G1	1	247836052	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	11436404	247836052	1414569	82	12422											
TPO	7173	genome.wustl.edu	37	chr2	1544474	1544474	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctcaccgcagcgggcCgcagctcaggactcggagca	8	3	15	15	4	2	0	2	0	0	0	3	3	2	3	3	4	3	4	3	4	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:1544474C>A	ENST00000345913.4	+	16	2818	c.2727C>A	c.(2725-2727)gcC>gcA	p.A909A	TPO_ENST00000382198.1_Silent_p.A736A|TPO_ENST00000349624.3_Silent_p.A736A|TPO_ENST00000346956.3_Silent_p.A865A|TPO_ENST00000329066.4_Silent_p.A909A|TPO_ENST00000382201.3_Silent_p.A852A|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	909					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGCAGCGGGCCGCAGCTCAGG	0.642																																																	0													59	54	55					2																	1544474		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.2727C>A	2.37:g.1544474C>A			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A909	ENST00000345913.4	37	c.2727	CCDS1643.1	2																																																																																			TPO	-	NULL	ENSG00000115705		0.642	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0	42	0	C	NM_000547		1544474	1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	silent	43.84	41	32	SNP	0.000	A	A	1544474	C	A	1544474	2	1	52	1	0	0	0	0	0	0	0	1	16458	639	23	2		2	TPO	2	1544474	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		1544474	241654899	83	12423											
MYT1L	23040	genome.wustl.edu	37	chr2	1983001	1983001	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccaggggtgggacagcTgcaacaggaaagaatggatt	14	5	15	7	0	0	1	0	0	0	1	0	4	0	4	1	5	4	2	1	5	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:1983001T>G	ENST00000399161.2	-	8	837		c.e8-2		MYT1L_ENST00000428368.2_Splice_Site	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGGGACAGCTGCAACAGGAA	0.542																																																	0													35	38	37					2																	1983001		2192	4298	6490	SO:0001630	splice_region_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.90-2A>C	2.37:g.1983001T>G			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Splice_Site	SNP	-	e3-2	ENST00000399161.2	37	c.90-2		2	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822122	0.71028	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0278	0.71682	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYT1L	1962008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.789000	0.75110	1.948000	0.56530	0.533000	0.62120	.	MYT1L	-	-	ENSG00000186487		0.542	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	21	0	T	NM_015025	Intron	1983001	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	splice_site	16.22	31	6	SNP	1.000	G	G	1983001	T	G	1983001	5	3	52	1	0	0	0	0	0	0	1	0	10145	1594	55	4	3538	4	MYT1L	2	1983001	Splice_Site	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	438527	1983001	241216372	84	12424											
TTC15	51112	genome.wustl.edu	37	chr2	3464042	3464042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttgtagcctctatcCggctgtggaggtcacgtctg	5	13	11	12	2	3	0	1	0	2	0	4	1	4	1	3	3	2	2	3	3	3	4	rs547696140		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:3464042C>T	ENST00000324266.5	+	8	1807	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R538W|TRAPPC12_ENST00000469147.1_3'UTR	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	538					vesicle-mediated transport (GO:0016192)												AGCCTCTATCCGGCTGTGGAG	0.507													C|||	1	0.000199681	0	0	5008	,	,		17113	0		0	False		,,,				2504	0.001																0													86	78	81					2																	3464042		2203	4300	6503	SO:0001583	missense	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1612C>T	2.37:g.3464042C>T	ENSP00000324318:p.Arg538Trp		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R538W	ENST00000324266.5	37	c.1612	CCDS1652.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.789864|2.789864	0.50102|0.50102	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000433382|ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	.|T;T	.|0.45276	.|0.9;0.9	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.250135	.|0.40728	.|N	.|0.001029	T|T	0.45955|0.45955	0.1368|0.1368	L|L	0.38175|0.38175	1.15|1.15	0.27936|0.27936	N|N	0.937692|0.937692	.|D;D	.|0.71674	.|0.998;0.998	.|P;P	.|0.49502	.|0.613;0.613	T|T	0.44667|0.44667	-0.9313|-0.9313	5|10	.|0.72032	.|D	.|0.01	.|.	18.9188|18.9188	0.92516|0.92516	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|527;538	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	L|W	83|538;527;538;36	.|ENSP00000371544:R538W;ENSP00000324318:R538W	.|ENSP00000303612:R527W	P|R	+|+	2|1	0|2	TTC15|TTC15	3443049|3443049	0.998000|0.998000	0.40836|0.40836	0.933000|0.933000	0.37362|0.37362	0.133000|0.133000	0.20885|0.20885	3.543000|3.543000	0.53633|0.53633	2.716000|2.716000	0.92895|0.92895	0.467000|0.467000	0.42956|0.42956	CCG|CGG	TRAPPC12	-	NULL	ENSG00000171853		0.507	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	-	0	61	0	C	NM_016030		3464042	1	tier1	-	no_errors	ENST00000324266	ensembl	human	known	74_37	missense	36.94	99	58	SNP	0.977	T	T	3464042	C	T	3464042	3	4	52	1	0	0	0	0	1	0	0	0	16731	643	23	1	1638	1	TTC15	2	3464042	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1481041	3464042	239735331	85	12425											
ASAP2	8853	genome.wustl.edu	37	chr2	9491025	9491025	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctttgacctcatttcacGtaaggctccctctgagatgc	7	13	9	12	1	3	2	2	2	1	1	4	3	4	2	2	1	2	3	2	1	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:9491025G>A	ENST00000281419.3	+	12	1451		c.e12+1		ASAP2_ENST00000315273.4_Splice_Site	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2						positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTCATTTCACGTAAGGCTCCC	0.507																																																	0													79	62	68					2																	9491025		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1111+1G>A	2.37:g.9491025G>A			D6W4Y8	Splice_Site	SNP	-	e12+1	ENST00000281419.3	37	c.1111+1	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428920	0.83667	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6353	0.91376	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASAP2	9408476	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.648000	0.98483	2.634000	0.89283	0.655000	0.94253	.	ASAP2	-	-	ENSG00000151693		0.507	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	0	36	0	G	NM_003887	Intron	9491025	1	tier1	-	no_errors	ENST00000281419	ensembl	human	known	74_37	splice_site	48.89	23	22	SNP	1.000	A	A	9491025	G	A	9491025	5	1	52	1	0	0	0	0	0	0	1	0	1012	1159	40	1	1158	1	ASAP2	2	9491025	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6026983	9491025	233708348	86	12426											
APOB	338	genome.wustl.edu	37	chr2	21234423	21234425	+	In_Frame_Del	DEL	TGT	TGT	-																															aaacttgtcagagctgtaaaTgttgtcaagttttgaagaga																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:21234423_21234425delTGT	ENST00000233242.1	-	26	5442_5444	c.5315_5317delACA	c.(5314-5319)aacatt>att	p.N1772del		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1772					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTGTAAATGTTGTCAAGTTT	0.369																																																	0																																										SO:0001651	inframe_deletion	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5315_5317delACA	2.37:g.21234426_21234428delTGT	ENSP00000233242:p.Asn1772del		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	In_Frame_Del	DEL	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.N1772in_frame_del	ENST00000233242.1	37	c.5317_5315	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.369	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	45	0	TGT			21234425	-1	tier1		no_errors	ENST00000233242	ensembl	human	known	74_37	in_frame_del	10.94	57	7	DEL	0.007:0.202:0.983	-	-	21234425	TGT	-	21234423	7	5	52	1	0	1	0	1	0	0	0	0	785	1464	51	0	8390	0	APOB	2	21234423	In_Frame_Del	DEL	TGT	TCGA-L5-A43J-01A-12D-A247-09	11743398	21234423	221964950	87	12427											
APOB	338	genome.wustl.edu	37	chr2	21260129	21260129	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttccatacacggtatccTatggaggaagaagatgcaac	14	9	10	8	1	0	2	0	0	0	2	2	4	2	4	2	3	3	3	2	3	6	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:21260129T>C	ENST00000233242.1	-	6	665		c.e6-2		APOB_ENST00000399256.4_Splice_Site	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B						artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACGGTATCCTATGGAGGAAG	0.493																																																	0													85	71	76					2																	21260129		2203	4300	6503	SO:0001630	splice_region_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.538-2A>G	2.37:g.21260129T>C			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Splice_Site	SNP	-	e6-2	ENST00000233242.1	37	c.538-2	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760539	0.69763	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9574	0.79896	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	APOB	21113634	1.000000	0.71417	0.991000	0.47740	0.736000	0.42039	6.707000	0.74654	2.237000	0.73441	0.528000	0.53228	.	APOB	-	-	ENSG00000084674		0.493	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	58	0	T		Intron	21260129	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	splice_site	50.43	58	59	SNP	1.000	C	C	21260129	T	C	21260129	5	2	52	1	0	0	0	0	0	0	1	0	785	1536	53	4	13251	4	APOB	2	21260129	Splice_Site	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	25706	21260129	221939244	88	12428											
GPR113	165082	genome.wustl.edu	37	chr2	26535919	26535919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgaacttgcctctgcCgcctgccctggcagctgtgc	4	9	14	14	1	1	1	0	1	1	0	1	2	1	1	4	2	6	2	4	2	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:26535919C>T	ENST00000311519.1	-	10	1544	c.1545G>A	c.(1543-1545)gcG>gcA	p.A515A	GPR113_ENST00000541401.1_Silent_p.A118A|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Silent_p.A316A|GPR113_ENST00000421160.2_Silent_p.A446A	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	515					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A316A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCCTCTGCCGCCTGCCCTG	0.612																																																	1	Substitution - coding silent(1)	large_intestine(1)											109	93	99					2																	26535919		2203	4300	6503	SO:0001819	synonymous_variant	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.1545G>A	2.37:g.26535919C>T			B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A316	ENST00000311519.1	37	c.948	CCDS46239.1	2																																																																																			GPR113	-	pfam_DUF3497	ENSG00000173567		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	-	0	39	0	C	NM_153835		26535919	-1	tier1	-	no_errors	ENST00000333478	ensembl	human	known	74_37	silent	34.21	50	26	SNP	0.001	T	T	26535919	C	T	26535919	2	4	52	1	0	0	0	0	0	0	0	1	6656	639	23	1		1	GPR113	2	26535919	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5275790	26535919	216663454	89	12429											
OTOF	9381	genome.wustl.edu	37	chr2	26684619	26684619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatctgcagggtgagccgCgcggggatcttgtactcggt	6	9	16	10	4	2	2	0	1	2	1	3	3	2	3	1	4	3	2	1	4	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:26684619C>T	ENST00000272371.2	-	43	5604	c.5478G>A	c.(5476-5478)gcG>gcA	p.A1826A	OTOF_ENST00000339598.3_Silent_p.A1059A|OTOF_ENST00000402415.3_Silent_p.A1136A|OTOF_ENST00000403946.3_Silent_p.A1826A|OTOF_ENST00000338581.6_Silent_p.A1059A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1826					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGAGCCGCGCGGGGATCT	0.602																																					GBM(102;732 1451 20652 24062 31372)												0													117	118	118					2																	26684619		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5478G>A	2.37:g.26684619C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A1826	ENST00000272371.2	37	c.5478	CCDS1725.1	2																																																																																			OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000115155		0.602	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	31	0	C			26684619	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	silent	34.18	52	27	SNP	0.713	T	T	26684619	C	T	26684619	2	4	52	1	0	0	0	0	0	0	0	1	11342	755	27	1		1	OTOF	2	26684619	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	148700	26684619	216514754	90	12430											
GPN1	11321	genome.wustl.edu	37	chr2	27858031	27858031	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatttccaacagttgtcAtctatgtaatggacacatcg	11	13	6	11	1	3	0	2	0	1	0	5	1	4	1	2	1	1	2	2	1	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:27858031A>G	ENST00000610189.1	+	7	461	c.454A>G	c.(454-456)Atc>Gtc	p.I152V	GPN1_ENST00000407583.3_Missense_Mutation_p.I140V|GPN1_ENST00000424214.1_Missense_Mutation_p.I73V|GPN1_ENST00000264718.3_Missense_Mutation_p.I166V|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000503738.1_Missense_Mutation_p.I57V|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.I57V|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000515877.1_Missense_Mutation_p.I73V	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						AACAGTTGTCATCTATGTAAT	0.448																																																	0													221	201	208					2																	27858031		2203	4300	6503	SO:0001583	missense	0			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.454A>G	2.37:g.27858031A>G	ENSP00000476446:p.Ile152Val			Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I166V	ENST00000610189.1	37	c.496		2	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772484	0.49680	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.96	3.62	0.41486	ATPase, AAA+ type, core (1);	0.269833	0.42548	N	0.000688	T	0.03520	0.0101	N	0.01624	-0.795	0.35710	D	0.816315	B;B;B;B	0.09022	0.0;0.002;0.001;0.001	B;B;B;B	0.14023	0.004;0.01;0.006;0.007	T	0.32693	-0.9897	10	0.02654	T	1	-0.0373	6.4451	0.21871	0.7616:0.0:0.2384:0.0	.	152;166;57;140	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	V	73;57;57;73;140;166	ENSP00000424678:I73V;ENSP00000427269:I57V;ENSP00000412170:I57V;ENSP00000398115:I73V;ENSP00000384255:I140V;ENSP00000264718:I166V	ENSP00000264718:I166V	I	+	1	0	GPN1	27711535	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.140000	0.42159	1.075000	0.40932	-0.256000	0.11100	ATC	GPN1	-	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000198522		0.448	GPN1-010	KNOWN	basic|appris_principal	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000473126.1	-	0	110	0	A	NM_007266		27858031	1	tier1	-	no_errors	ENST00000264718	ensembl	human	known	74_37	missense	43.22	113	86	SNP	1.000	G	G	27858031	A	G	27858031	3	3	52	1	0	0	0	0	1	0	0	0	6643	217	8	4	605	4	GPN1	2	27858031	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1173412	27858031	215341342	91	12431											
SLC4A1AP	22950	genome.wustl.edu	37	chr2	27917513	27917513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctaggtcaaagtggagAtggcagaacccatcttaatg	13	10	11	7	0	3	3	1	1	2	2	3	4	3	3	1	3	1	1	1	3	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:27917513A>G	ENST00000326019.6	+	14	2636	c.2354A>G	c.(2353-2355)gAt>gGt	p.D785G		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	785						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CAAAGTGGAGATGGCAGAACC	0.358																																																	0													99	97	97					2																	27917513		2203	4300	6503	SO:0001583	missense	0				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.2354A>G	2.37:g.27917513A>G	ENSP00000323837:p.Asp785Gly		A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D785G	ENST00000326019.6	37	c.2354	CCDS33166.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108762	0.77096	.	.	ENSG00000163798	ENST00000326019	T	0.61980	0.06	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.78298	0.4261	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80710	-0.1261	10	0.72032	D	0.01	-22.9137	13.7224	0.62735	1.0:0.0:0.0:0.0	.	785	Q9BWU0	NADAP_HUMAN	G	785	ENSP00000323837:D785G	ENSP00000323837:D785G	D	+	2	0	SLC4A1AP	27771017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.209000	0.72171	2.285000	0.76669	0.533000	0.62120	GAT	SLC4A1AP	-	NULL	ENSG00000163798		0.358	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	-	0	53	0	A	NM_018158		27917513	1	tier1	-	no_errors	ENST00000326019	ensembl	human	known	74_37	missense	30.30	45	20	SNP	1.000	G	G	27917513	A	G	27917513	3	3	52	1	0	0	0	0	1	0	0	0	14698	333	12	4	2408	4	SLC4A1AP	2	27917513	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	59482	27917513	215281860	92	12432											
EML4	27436	genome.wustl.edu	37	chr2	42490438	42490438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaaaagttaccaaaacTgcagacaagtaagtattgca	19	8	6	8	0	0	1	0	0	0	1	0	1	0	1	2	0	5	5	2	0	9	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42490438T>C	ENST00000318522.5	+	5	895	c.633T>C	c.(631-633)acT>acC	p.T211T	EML4_ENST00000401738.3_Silent_p.T211T|EML4_ENST00000402711.2_Silent_p.T153T	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	211					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTACCAAAACTGCAGACAAGT	0.308			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													79	76	77					2																	42490438		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.633T>C	2.37:g.42490438T>C			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T211	ENST00000318522.5	37	c.633	CCDS1807.1	2																																																																																			EML4	-	NULL	ENSG00000143924		0.308	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	72	0	T	NM_019063		42490438	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	28.04	77	30	SNP	0.072	C	C	42490438	T	C	42490438	2	2	52	1	0	0	0	0	0	0	0	1	5115	1567	55	4		4	EML4	2	42490438	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	14572925	42490438	200708935	93	12433											
EML4	27436	genome.wustl.edu	37	chr2	42557121	42557121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctccttctcagcccttaaAtgagacagctgaagaggaaa	13	8	9	11	0	1	3	1	2	1	2	3	5	2	4	3	1	2	1	3	1	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42557121A>G	ENST00000318522.5	+	23	2982	c.2720A>G	c.(2719-2721)aAt>aGt	p.N907S	EML4_ENST00000401738.3_Missense_Mutation_p.N918S|EML4_ENST00000453191.2_Missense_Mutation_p.N171S|EML4_ENST00000402711.2_Missense_Mutation_p.N849S	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	907					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGCCCTTAAATGAGACAGCT	0.498			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													89	84	86					2																	42557121		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2720A>G	2.37:g.42557121A>G	ENSP00000320663:p.Asn907Ser		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N907S	ENST00000318522.5	37	c.2720	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260966	0.23051	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;D;T	0.97575	1.19;1.25;-4.44;0.95	5.14	-0.208	0.13185	.	1.562160	0.03056	N	0.155223	D	0.92143	0.7509	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	D	0.84686	0.0720	10	0.20046	T	0.44	-0.0436	8.6649	0.34114	0.5308:0.3929:0.0763:0.0	.	849;849;918;907	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	S	907;849;918;171	ENSP00000320663:N907S;ENSP00000385059:N849S;ENSP00000384939:N918S;ENSP00000400590:N171S	ENSP00000320663:N907S	N	+	2	0	EML4	42410625	0.000000	0.05858	0.001000	0.08648	0.958000	0.62258	0.727000	0.25999	0.057000	0.16193	0.533000	0.62120	AAT	EML4	-	NULL	ENSG00000143924		0.498	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	25	0	A	NM_019063		42557121	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	51.61	15	16	SNP	0.006	G	G	42557121	A	G	42557121	3	3	52	1	0	0	0	0	1	0	0	0	5115	101	4	4	2810	4	EML4	2	42557121	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	66683	42557121	200642252	94	12434											
KCNG3	170850	genome.wustl.edu	37	chr2	42671596	42671596	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagagatgtaatacggCgtgattgccagtaaatcaat	16	9	9	7	2	1	2	1	1	0	1	1	3	1	2	1	1	3	2	1	1	6	4	rs367799233		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:42671596C>T	ENST00000306078.1	-	2	1384	c.789G>A	c.(787-789)acG>acA	p.T263T	KCNG3_ENST00000394973.4_Silent_p.T252T	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	263					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGTAATACGGCGTGATTGCCA	0.458																																																	0								C	,	0,4406		0,0,2203	118	105	109		789,756	-10.3	0.3	2		109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNG3	NM_133329.5,NM_172344.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	263/437,252/426	42671596	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.789G>A	2.37:g.42671596C>T			Q53SC1	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.T263	ENST00000306078.1	37	c.789	CCDS1809.1	2																																																																																			KCNG3	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000171126		0.458	KCNG3-001	KNOWN	basic|CCDS	protein_coding	KCNG3	HGNC	protein_coding	OTTHUMT00000250464.2	-	0	16	0	C	NM_172344		42671596	-1	tier1	-	no_errors	ENST00000306078	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.003	T	T	42671596	C	T	42671596	2	4	52	1	0	0	0	0	0	0	0	1	8056	755	27	1		1	KCNG3	2	42671596	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	114475	42671596	200527777	95	12435											
SIX3	6496	genome.wustl.edu	37	chr2	45171872	45171872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccatcctctcggtaacCtccagcgactcggaatgtga	9	9	8	15	3	1	1	0	1	1	0	6	3	4	2	5	2	2	1	5	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:45171872C>T	ENST00000260653.3	+	2	1314	c.972C>T	c.(970-972)acC>acT	p.T324T	SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	324					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCGGTAACCTCCAGCGACT	0.677																																																	0													21	22	21					2																	45171872		2085	4077	6162	SO:0001819	synonymous_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.972C>T	2.37:g.45171872C>T			D6W5A5|Q53T42	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T324	ENST00000260653.3	37	c.972	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.677	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1	-	0	15	0	C	NM_005413		45171872	1	tier1	-	no_errors	ENST00000260653	ensembl	human	known	74_37	silent	44.07	33	26	SNP	1.000	T	T	45171872	C	T	45171872	2	4	52	1	0	0	0	0	0	0	0	1	14393	668	24	3		3	SIX3	2	45171872	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2500276	45171872	198027501	96	12436											
SOCS5	9655	genome.wustl.edu	37	chr2	46986468	46986468	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagataggcttagagagAgaaggcggcttagtattgaa	16	8	14	3	1	0	5	0	1	0	4	0	7	0	5	0	3	0	3	0	3	8	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:46986468A>G	ENST00000306503.5	+	2	971	c.799A>G	c.(799-801)Aga>Gga	p.R267G	SOCS5_ENST00000394861.2_Missense_Mutation_p.R267G	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	267					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCTTAGAGAGAGAAGGCGGCT	0.403																																																	0													52	52	52					2																	46986468		2203	4300	6503	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.799A>G	2.37:g.46986468A>G	ENSP00000305133:p.Arg267Gly		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R267G	ENST00000306503.5	37	c.799	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	A	16.51	3.143234	0.57044	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.36157	1.27;1.27	5.43	5.43	0.79202	.	0.049979	0.85682	D	0.000000	T	0.56702	0.2003	M	0.63843	1.955	0.58432	D	0.999998	D	0.89917	1.0	D	0.69307	0.963	T	0.59311	-0.7478	10	0.66056	D	0.02	-25.7792	15.3001	0.73940	1.0:0.0:0.0:0.0	.	267	O75159	SOCS5_HUMAN	G	267	ENSP00000305133:R267G;ENSP00000378330:R267G	ENSP00000305133:R267G	R	+	1	2	SOCS5	46839972	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.533000	0.53561	2.279000	0.76181	0.533000	0.62120	AGA	SOCS5	-	NULL	ENSG00000171150		0.403	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	-	0	49	0	A			46986468	1	tier1	-	no_errors	ENST00000306503	ensembl	human	known	74_37	missense	50.85	29	30	SNP	1.000	G	G	46986468	A	G	46986468	3	3	52	1	0	0	0	0	1	0	0	0	14962	296	11	4	801	4	SOCS5	2	46986468	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1814596	46986468	196212905	97	12437											
KLRAQ1	129285	genome.wustl.edu	37	chr2	48686995	48686995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaagctgtggttgacGgtctcacccggaagtacatg	10	8	12	11	2	1	1	1	1	1	0	2	2	1	2	2	3	3	4	2	3	3	2	rs142054593		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:48686995G>A	ENST00000294952.8	+	5	635	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	PPP1R21_ENST00000449090.2_Missense_Mutation_p.G160S|PPP1R21_ENST00000281394.4_Missense_Mutation_p.G160S	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	160						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TGTGGTTGACGGTCTCACCCG	0.498																																																	0								G	SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	81	76	78		478,478,478	5.6	1	2	dbSNP_134	78	0,8600		0,0,4300	yes	missense,missense,missense	KLRAQ1	NM_001135629.2,NM_001193475.1,NM_152994.4	56,56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	160/781,160/739,160/770	48686995	1,13005	2203	4300	6503	SO:0001583	missense	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.478G>A	2.37:g.48686995G>A	ENSP00000294952:p.Gly160Ser		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Missense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.G160S	ENST00000294952.8	37	c.478	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994550	0.54041	2.27E-4	0.0	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.56	5.56	0.83823	.	0.199237	0.53938	D	0.000047	T	0.35335	0.0928	N	0.12182	0.205	0.51233	D	0.999911	B;B;B;B;B	0.25007	0.07;0.07;0.116;0.03;0.003	B;B;B;B;B	0.15484	0.003;0.012;0.013;0.008;0.005	T	0.23976	-1.0173	9	0.09338	T	0.73	-13.277	13.6027	0.62029	0.0808:0.0:0.9192:0.0	.	160;160;160;160;160	E1B6W7;Q6ZMI0;Q6ZMI0-2;Q6ZMI0-3;Q6ZMI0-4	.;PPR21_HUMAN;.;.;.	S	160	.	ENSP00000281394:G160S	G	+	1	0	KLRAQ1	48540499	1.000000	0.71417	0.995000	0.50966	0.631000	0.37964	5.628000	0.67791	2.778000	0.95560	0.591000	0.81541	GGT	PPP1R21	-	NULL	ENSG00000162869		0.498	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0	25	0	G	NM_152994		48686995	1	tier1	rs142054593	no_errors	ENST00000294952	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	A	A	48686995	G	A	48686995	3	1	52	1	0	0	0	0	1	0	0	0	8440	1116	39	1	496	1	KLRAQ1	2	48686995	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1700527	48686995	194512378	98	12438											
TSPYL6	388951	genome.wustl.edu	37	chr2	54483060	54483060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatgactgcgacccgCatcgaccaagatgtggaaag	11	6	12	12	3	0	2	0	1	0	1	2	5	1	3	3	2	1	2	3	2	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:54483060C>T	ENST00000317802.7	-	1	349	c.229G>A	c.(229-231)Gcg>Acg	p.A77T	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	77					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTGCGACCCGCATCGACCAAG	0.647																																																	0													47	54	51					2																	54483060		2017	4172	6189	SO:0001583	missense	0			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.229G>A	2.37:g.54483060C>T	ENSP00000417919:p.Ala77Thr		Q6NUJ3	Missense_Mutation	SNP	pfam_NAP_family	p.A77T	ENST00000317802.7	37	c.229	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557403	0.27827	.	.	ENSG00000178021	ENST00000317802	T	0.25749	1.78	0.994	0.994	0.19832	.	.	.	.	.	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.22941	-1.0202	9	0.72032	D	0.01	.	5.3254	0.15903	0.0:1.0:0.0:0.0	.	77	Q8N831	TSYL6_HUMAN	T	77	ENSP00000417919:A77T	ENSP00000417919:A77T	A	-	1	0	TSPYL6	54336564	0.002000	0.14202	0.003000	0.11579	0.002000	0.02628	0.899000	0.28417	0.827000	0.34685	0.467000	0.42956	GCG	TSPYL6	-	NULL	ENSG00000178021		0.647	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	HGNC	protein_coding	OTTHUMT00000324069.3	-	0	13	0	C	XM_371494		54483060	-1	tier1	-	no_errors	ENST00000317802	ensembl	human	known	74_37	missense	18.18	45	10	SNP	0.003	T	T	54483060	C	T	54483060	3	4	52	1	0	0	0	0	1	0	0	0	16711	710	25	3	1007	3	TSPYL6	2	54483060	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5796065	54483060	188716313	99	12439											
RTN4	57142	genome.wustl.edu	37	chr2	55252408	55252408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacctttgatgtagcagAcccatttttagaaaagtcat	13	12	8	8	0	1	3	1	1	0	2	1	4	1	3	2	0	2	3	2	0	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:55252408A>G	ENST00000337526.6	-	3	3070	c.2827T>C	c.(2827-2829)Tct>Cct	p.S943P	RTN4_ENST00000394611.2_Missense_Mutation_p.S737P|RTN4_ENST00000354474.6_Missense_Mutation_p.S711P|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.S737P|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.S737P|RTN4_ENST00000405240.1_Missense_Mutation_p.S737P	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	943					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GATGTAGCAGACCCATTTTTA	0.403																																																	0													115	115	115					2																	55252408		2203	4300	6503	SO:0001583	missense	0			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2827T>C	2.37:g.55252408A>G	ENSP00000337838:p.Ser943Pro		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S943P	ENST00000337526.6	37	c.2827	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	A	5.786	0.329426	0.10956	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.7	-0.592	0.11671	.	4.417470	0.01548	N	0.019578	T	0.11965	0.0291	L	0.27053	0.805	0.21147	N	0.999773	B	0.06786	0.001	B	0.04013	0.001	T	0.22173	-1.0224	10	0.16420	T	0.52	-0.1507	6.0869	0.19973	0.3883:0.1656:0.4461:0.0	.	943	Q9NQC3	RTN4_HUMAN	P	737;737;943;737;737;711	ENSP00000384471:S737P;ENSP00000349944:S737P;ENSP00000337838:S943P;ENSP00000378109:S737P;ENSP00000385650:S737P;ENSP00000346465:S711P	ENSP00000337838:S943P	S	-	1	0	RTN4	55105912	0.517000	0.26226	0.006000	0.13384	0.337000	0.28794	1.311000	0.33562	-0.076000	0.12775	0.533000	0.62120	TCT	RTN4	-	NULL	ENSG00000115310		0.403	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	-	0	41	0	A			55252408	-1	tier1	-	no_errors	ENST00000337526	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.376	G	G	55252408	A	G	55252408	3	3	52	1	0	0	0	0	1	0	0	0	13773	275	10	4	817	4	RTN4	2	55252408	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	769348	55252408	187946965	100	12440											
AAK1	22848	genome.wustl.edu	37	chr2	69741763	69741765	+	In_Frame_Del	DEL	TGC	TGC	-																															gttgctgttgctgttgttgtTgctgctgctgctgctgctgg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:69741763_69741765delTGC	ENST00000409085.4	-	13	1990_1992	c.1614_1616delGCA	c.(1612-1617)cagcaa>caa	p.538_539QQ>Q	AAK1_ENST00000409068.1_In_Frame_Del_p.538_539QQ>Q|AAK1_ENST00000406297.3_In_Frame_Del_p.538_539QQ>Q|RN7SL604P_ENST00000492589.2_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	538	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)	p.Q538Q(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ctgttgttgttgctgctgctgct	0.542																																																	2	Substitution - coding silent(2)	kidney(2)																																								SO:0001651	inframe_deletion	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1614_1616delGCA	2.37:g.69741772_69741774delTGC	ENSP00000386456:p.Gln546del		Q4ZFZ3|Q53RX6|Q9UPV4	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q542in_frame_del	ENST00000409085.4	37	c.1616_1614	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.542	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4		0	77	0	TGC	NM_014911		69741765	-1	tier1		no_errors	ENST00000409085	ensembl	human	known	74_37	in_frame_del	11.97	103	14	DEL	1.000:1.000:0.998	-	-	69741765	TGC	-	69741763	7	5	52	1	0	1	0	1	0	0	0	0	16	1812	63	0	1309	0	AAK1	2	69741763	In_Frame_Del	DEL	TGC	TCGA-L5-A43J-01A-12D-A247-09	14489355	69741763	173457610	101	12441											
C2orf42	54980	genome.wustl.edu	37	chr2	70387883	70387883	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctcataagtcccatctcGgttctggataaagctacggg	10	11	10	10	2	3	0	1	0	2	0	5	1	4	1	1	3	3	3	1	3	5	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:70387883G>A	ENST00000264434.2	-	9	1769	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	C2orf42_ENST00000420306.1_Nonsense_Mutation_p.R464*	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	464										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GTCCCATCTCGGTTCTGGATA	0.428																																																	0													102	100	100					2																	70387883		2203	4300	6503	SO:0001587	stop_gained	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1390C>T	2.37:g.70387883G>A	ENSP00000264434:p.Arg464*		D6W5G3|Q9H629	Nonsense_Mutation	SNP	NULL	p.R464*	ENST00000264434.2	37	c.1390	CCDS1899.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.312986	0.97467	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	.	.	.	5.24	5.24	0.73138	.	0.351400	0.30732	N	0.008997	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.1456	17.5771	0.87953	0.0:0.0:1.0:0.0	.	.	.	.	X	464	.	ENSP00000264434:R464X	R	-	1	2	C2orf42	70241387	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.785000	0.62418	2.726000	0.93360	0.650000	0.86243	CGA	C2orf42	-	NULL	ENSG00000115998		0.428	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1	-	0	60	0	G	NM_017880		70387883	-1	tier1	-	no_errors	ENST00000264434	ensembl	human	known	74_37	nonsense	43.75	45	35	SNP	1.000	A	A	70387883	G	A	70387883	4	1	52	1	0	0	0	0	0	1	0	0	2173	1124	39	1	342	1	C2orf42	2	70387883	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	646120	70387883	172811490	102	12442											
TIA1	7072	genome.wustl.edu	37	chr2	70442603	70442603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacagaaacaattgcatgtGctgcactttcatgggaattg	13	12	9	7	0	1	1	1	0	0	1	1	2	1	2	0	1	5	3	0	1	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:70442603G>A	ENST00000433529.2	-	11	998	c.788C>T	c.(787-789)gCa>gTa	p.A263V	C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000282574.4_Missense_Mutation_p.A263V|TIA1_ENST00000415783.2_Missense_Mutation_p.A252V|TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'UTR	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	263	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						AATTGCATGTGCTGCACTTTC	0.308																																																	0													79	72	74					2																	70442603		2203	4300	6503	SO:0001583	missense	0				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"RNA binding motif (RRM) containing"	11802	protein-coding gene	gene with protein product	"T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40"	603518	"TIA1 cytotoxic granule-associated RNA-binding protein"			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.788C>T	2.37:g.70442603G>A	ENSP00000401371:p.Ala263Val		Q53SS9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.A263V	ENST00000433529.2	37	c.788	CCDS1901.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816912	0.90790	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000454815	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	L	0.58925	1.835	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.963	T	0.06006	-1.0851	10	0.72032	D	0.01	-17.8909	18.9257	0.92544	0.0:0.0:1.0:0.0	.	252;263	P31483-2;P31483	.;TIA1_HUMAN	V	263;252;341;263;34	ENSP00000401371:A263V;ENSP00000404023:A252V;ENSP00000282574:A263V;ENSP00000402263:A34V	ENSP00000282574:A263V	A	-	2	0	TIA1	70296107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	GCA	TIA1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000116001		0.308	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	-	0	46	0	G	NM_022037		70442603	-1	tier1	-	no_errors	ENST00000433529	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	A	A	70442603	G	A	70442603	3	1	52	1	0	0	0	0	1	0	0	0	15934	1319	46	3	384	3	TIA1	2	70442603	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	54720	70442603	172756770	103	12443											
VAX2	25806	genome.wustl.edu	37	chr2	71160174	71160174	+	Frame_Shift_Del	DEL	C	C	-																															gctgtcctcggcctcagcgtCccccccactgccgccccctc																								rs555134830	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:71160174delC	ENST00000234392.2	+	3	745	c.713delC	c.(712-714)tccfs	p.S238fs	snoU13_ENST00000459218.1_RNA|ATP6V1B1_ENST00000234396.4_5'Flank|ATP6V1B1_ENST00000412314.1_5'Flank	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	238					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCCTCAGCGTCCCCCCCACTG	0.687																																																	0													23	26	25					2																	71160174		2203	4299	6502	SO:0001589	frameshift_variant	0			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"Homeoboxes / ANTP class : NKL subclass"	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.713delC	2.37:g.71160174delC	ENSP00000234392:p.Ser238fs		Q53Y33	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P240fs	ENST00000234392.2	37	c.713	CCDS1911.1	2																																																																																			VAX2	-	NULL	ENSG00000116035		0.687	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAX2	HGNC	protein_coding	OTTHUMT00000251923.1		0	26	0	C			71160174	1	tier1		no_errors	ENST00000234392	ensembl	human	known	74_37	frame_shift_del	36.71	50	29	DEL	0.296	-	-	71160174	C	-	71160174	7	5	52	1	0	1	0	1	0	0	0	0	17184	855	30	0	723	0	VAX2	2	71160174	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	717571	71160174	172039199	104	12444											
CCT7	10574	genome.wustl.edu	37	chr2	73477474	73477474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaaggccaagacatgcAccttcattctccgtggcggc	8	7	10	16	2	2	1	1	0	1	1	3	1	2	1	5	3	1	1	5	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:73477474A>G	ENST00000258091.5	+	10	1252	c.1111A>G	c.(1111-1113)Acc>Gcc	p.T371A	CCT7_ENST00000539919.1_Missense_Mutation_p.T327A|CCT7_ENST00000537131.1_Missense_Mutation_p.T271A|CCT7_ENST00000540468.1_Missense_Mutation_p.T284A|CCT7_ENST00000398422.2_Missense_Mutation_p.T167A|CCT7_ENST00000538797.1_Missense_Mutation_p.T243A	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	371					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CAAGACATGCACCTTCATTCT	0.517																																																	0													132	144	140					2																	73477474		2059	4200	6259	SO:0001583	missense	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1111A>G	2.37:g.73477474A>G	ENSP00000258091:p.Thr371Ala		A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.T371A	ENST00000258091.5	37	c.1111	CCDS46336.1	2	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635521	0.87760	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000398422;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.92753	0.7696	H	0.96861	3.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.87578	0.975;0.962;0.961;0.998;0.998;0.998	D	0.94776	0.7949	10	0.87932	D	0	-29.3851	13.5762	0.61875	1.0:0.0:0.0:0.0	.	284;243;271;329;167;371	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;A8MWI8;Q99832	.;.;.;.;.;TCPH_HUMAN	A	284;327;371;167;271;243;329	ENSP00000442058:T284A;ENSP00000437824:T327A;ENSP00000258091:T371A;ENSP00000381456:T167A;ENSP00000444379:T271A;ENSP00000438462:T243A	ENSP00000258091:T371A	T	+	1	0	CCT7	73330982	1.000000	0.71417	0.942000	0.38095	0.923000	0.55619	9.105000	0.94246	2.149000	0.67028	0.482000	0.46254	ACC	CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.517	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	-	0	49	0	A			73477474	1	tier1	-	no_errors	ENST00000258091	ensembl	human	known	74_37	missense	43.40	60	46	SNP	1.000	G	G	73477474	A	G	73477474	3	3	52	1	0	0	0	0	1	0	0	0	2966	159	6	4	1149	4	CCT7	2	73477474	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2317300	73477474	169721899	105	12445											
CCT7	10574	genome.wustl.edu	37	chr2	73478542	73478542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacattctcaacaagctGcgggctcggcatgcccaggt	11	7	10	13	2	1	0	1	0	1	0	3	0	1	0	1	3	5	3	1	3	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:73478542G>A	ENST00000258091.5	+	11	1533	c.1392G>A	c.(1390-1392)ctG>ctA	p.L464L	CCT7_ENST00000539919.1_Silent_p.L420L|CCT7_ENST00000537131.1_Silent_p.L364L|CCT7_ENST00000540468.1_Silent_p.L377L|CCT7_ENST00000398422.2_Silent_p.L260L|CCT7_ENST00000538797.1_Silent_p.L336L	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	464					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TCAACAAGCTGCGGGCTCGGC	0.552																																																	0													63	62	63					2																	73478542		1913	4111	6024	SO:0001819	synonymous_variant	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.1392G>A	2.37:g.73478542G>A			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.L464	ENST00000258091.5	37	c.1392	CCDS46336.1	2																																																																																			CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.552	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	-	0	30	0	G			73478542	1	tier1	-	no_errors	ENST00000258091	ensembl	human	known	74_37	silent	37.50	60	36	SNP	1.000	A	A	73478542	G	A	73478542	2	1	52	1	0	0	0	0	0	0	0	1	2966	1306	46	3		3	CCT7	2	73478542	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1068	73478542	169720831	106	12446											
TET3	200424	genome.wustl.edu	37	chr2	74326650	74326652	+	In_Frame_Del	DEL	AGA	AGA	-																															agccagaaaggcagcagccgAgaagaagaagattcagaagg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74326650_74326652delAGA	ENST00000409262.3	+	8	3110_3112	c.3110_3112delAGA	c.(3109-3114)gagaag>gag	p.K1040del		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1040					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAGCCGAGAAGAAGAAGAT	0.645																																																	0																																										SO:0001651	inframe_deletion	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3110_3112delAGA	2.37:g.74326659_74326661delAGA	ENSP00000386869:p.Lys1040del		A6NEI3|Q86Z24|Q8TBM9	In_Frame_Del	DEL	NULL	p.K1040in_frame_del	ENST00000409262.3	37	c.3110_3112	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.645	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4		0	26	0	AGA			74326652	1	tier1		no_errors	ENST00000409262	ensembl	human	known	74_37	in_frame_del	40.32	37	25	DEL	1.000:1.000:1.000	-	-	74326652	AGA	-	74326650	7	5	52	1	0	1	0	1	0	0	0	0	15818	304	11	0	3140	0	TET3	2	74326650	In_Frame_Del	DEL	AGA	TCGA-L5-A43J-01A-12D-A247-09	848108	74326650	168872723	107	12447											
TET3	200424	genome.wustl.edu	37	chr2	74328621	74328621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggagggcaggattccagCcgcaggggccagccagctgg	9	3	18	11	1	0	1	0	0	0	1	1	3	1	3	4	6	3	3	4	6	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74328621C>T	ENST00000409262.3	+	9	4301	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1434					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGATTCCAGCCGCAGGGGCC	0.617																																																	0													14	16	15					2																	74328621		1897	4122	6019	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4301C>T	2.37:g.74328621C>T	ENSP00000386869:p.Ala1434Val		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.A1434V	ENST00000409262.3	37	c.4301	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542605	0.45280	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.12361	2.69	4.84	4.84	0.62591	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.385322	0.28476	N	0.015218	T	0.09905	0.0243	N	0.08118	0	0.30247	N	0.794475	B	0.15141	0.012	B	0.24701	0.055	T	0.11518	-1.0584	10	0.72032	D	0.01	.	16.8655	0.86028	0.0:1.0:0.0:0.0	.	1434	O43151	TET3_HUMAN	V	1434	ENSP00000386869:A1434V	ENSP00000233310:A1434V	A	+	2	0	TET3	74182129	0.994000	0.37717	0.753000	0.31225	0.872000	0.50106	4.128000	0.57951	2.521000	0.84997	0.591000	0.81541	GCC	TET3	-	NULL	ENSG00000187605		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0	47	0	C			74328621	1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	18.81	82	19	SNP	1.000	T	T	74328621	C	T	74328621	3	4	52	1	0	0	0	0	1	0	0	0	15818	739	26	3	4335	3	TET3	2	74328621	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1971	74328621	168870752	108	12448											
MTHFD2	10797	genome.wustl.edu	37	chr2	74437167	74437167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacagatggggcgcatgaaCgtcccggaggtaaggaaatt	13	6	14	8	3	0	2	0	1	0	1	1	4	1	4	1	5	1	2	1	5	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74437167C>T	ENST00000394053.2	+	5	741	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	MTHFD2_ENST00000264090.4_Missense_Mutation_p.R119C|MTHFD2_ENST00000394050.3_Missense_Mutation_p.R57C|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R180C|MTHFD2_ENST00000409804.1_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	221					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	GGCGCATGAACGTCCCGGAGG	0.468																																																	0													67	69	69					2																	74437167		1903	4131	6034	SO:0001583	missense	0			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.661C>T	2.37:g.74437167C>T	ENSP00000377617:p.Arg221Cys		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.R221C	ENST00000394053.2	37	c.661	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720421	0.48728	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T	0.31769	1.91;1.92;1.48;1.78	5.49	4.6	0.57074	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.098149	0.64402	D	0.000003	T	0.31136	0.0787	L	0.56769	1.78	0.80722	D	1	B;B	0.33964	0.434;0.211	B;B	0.31614	0.133;0.081	T	0.18587	-1.0332	10	0.72032	D	0.01	.	13.4506	0.61169	0.1579:0.8421:0.0:0.0	.	180;221	B8ZZU9;P13995	.;MTDC_HUMAN	C	221;119;57;180	ENSP00000377617:R221C;ENSP00000264090:R119C;ENSP00000377614:R57C;ENSP00000386542:R180C	ENSP00000264090:R119C	R	+	1	0	MTHFD2	74290675	1.000000	0.71417	0.375000	0.26029	0.993000	0.82548	2.800000	0.47900	1.543000	0.49345	0.644000	0.83932	CGT	MTHFD2	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom	ENSG00000065911		0.468	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2	-	0	55	0	C			74437167	1	tier1	-	no_errors	ENST00000394053	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.994	T	T	74437167	C	T	74437167	3	4	52	1	0	0	0	0	1	0	0	0	9967	536	19	1	679	1	MTHFD2	2	74437167	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	108546	74437167	168762206	109	12449											
DOK1	1796	genome.wustl.edu	37	chr2	74782459	74782459	+	Frame_Shift_Del	DEL	C	C	-																															ggcccccgtcaccgtggagaCcccccctgagcccggcgcca																								rs200525020		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:74782459delC	ENST00000233668.5	+	2	908	c.239delC	c.(238-240)accfs	p.T80fs	DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000409986.1_5'Flank|LOXL3_ENST00000409249.1_5'Flank|DOK1_ENST00000340004.6_Frame_Shift_Del_p.T80fs|LOXL3_ENST00000393937.2_5'Flank|M1AP_ENST00000464686.1_5'Flank|LOXL3_ENST00000484369.1_5'Flank|DOK1_ENST00000409429.1_5'UTR|LOXL3_ENST00000409549.1_5'Flank|LOXL3_ENST00000264094.3_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	80	PH.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)	p.E83fs*1(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCGTGGAGACCCCCCCTGAG	0.716																																					Esophageal Squamous(36;520 860 12502 33616 51270)												1	Insertion - Frameshift(1)	large_intestine(1)											49	47	48					2																	74782459		2203	4299	6502	SO:0001589	frameshift_variant	0			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"docking protein 1, 62kD (downstream of tyrosine kinase 1)"			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.239delC	2.37:g.74782459delC	ENSP00000233668:p.Thr80fs		O43204|Q53TY2|Q9UHG6	Frame_Shift_Del	DEL	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P82fs	ENST00000233668.5	37	c.239	CCDS1954.1	2																																																																																			DOK1	-	smart_Pleckstrin_homology	ENSG00000115325		0.716	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3		0	45	0	C	NM_001381		74782459	1	tier1		no_errors	ENST00000233668	ensembl	human	known	74_37	frame_shift_del	33.08	89	44	DEL	1.000	-	-	74782459	C	-	74782459	7	5	52	1	0	1	0	1	0	0	0	0	4710	507	18	0	245	0	DOK1	2	74782459	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	345292	74782459	168416914	110	12450											
LRRTM1	347730	genome.wustl.edu	37	chr2	80530816	80530816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagccgcccctcgcaccgGcacagctgcgggcacccgct	6	3	12	20	5	0	0	0	0	0	0	1	0	0	0	5	2	4	6	5	2	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:80530816G>A	ENST00000295057.3	-	2	785	c.129C>T	c.(127-129)tgC>tgT	p.C43C	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.C43C	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	43	LRRNT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTCGCACCGGCACAGCTGCG	0.697										HNSCC(69;0.2)																																							0													13	17	16					2																	80530816		2106	4163	6269	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.129C>T	2.37:g.80530816G>A			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C43	ENST00000295057.3	37	c.129	CCDS1966.1	2																																																																																			LRRTM1	-	NULL	ENSG00000162951		0.697	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0	11	0	G	NM_178839		80530816	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	silent	20.69	23	6	SNP	1.000	A	A	80530816	G	A	80530816	2	1	52	1	0	0	0	0	0	0	0	1	9074	1195	42	3		3	LRRTM1	2	80530816	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	5748357	80530816	162668557	111	12451											
TSGA10	80705	genome.wustl.edu	37	chr2	99695219	99695219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttagccagatcattgaggGttccaccaagaatgctgatt	11	12	9	9	0	1	4	1	2	0	2	2	4	2	4	3	1	2	2	3	1	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:99695219G>T	ENST00000393483.3	-	12	1629	c.785C>A	c.(784-786)aCc>aAc	p.T262N	TSGA10_ENST00000542655.1_Missense_Mutation_p.T262N|TSGA10_ENST00000539964.1_Missense_Mutation_p.T262N|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000355053.4_Missense_Mutation_p.T262N|TSGA10_ENST00000410001.1_Missense_Mutation_p.T262N	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	262					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCATTGAGGGTTCCACCAAG	0.348																																																	0													111	107	108					2																	99695219		2203	4300	6503	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.785C>A	2.37:g.99695219G>T	ENSP00000377123:p.Thr262Asn		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.T262N	ENST00000393483.3	37	c.785	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883293	0.72410	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.76968	0.77;0.77;0.77;0.77;-1.06;-1.06;0.77	5.15	5.15	0.70609	.	0.093663	0.46758	D	0.000269	D	0.85539	0.5720	M	0.61703	1.905	0.44702	D	0.997699	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85144	0.0982	10	0.48119	T	0.1	-5.2187	13.9861	0.64337	0.0:0.0:1.0:0.0	.	262;262	B7Z925;Q9BZW7	.;TSG10_HUMAN	N	262	ENSP00000377123:T262N;ENSP00000386956:T262N;ENSP00000347161:T262N;ENSP00000444419:T262N;ENSP00000386508:T262N;ENSP00000377122:T262N;ENSP00000445623:T262N	ENSP00000347161:T262N	T	-	2	0	TSGA10	99061651	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	3.939000	0.56591	2.673000	0.90976	0.467000	0.42956	ACC	TSGA10	-	NULL	ENSG00000135951		0.348	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	41	0	G	NM_182911		99695219	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.999	T	T	99695219	G	T	99695219	3	4	52	1	0	0	0	0	1	0	0	0	16665	1261	44	3	1351	3	TSGA10	2	99695219	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	19164403	99695219	143504154	112	12452											
NPAS2	4862	genome.wustl.edu	37	chr2	101598834	101598834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtccaggactccaacGtccaggtgatccccttcccg	6	8	10	17	2	0	1	0	1	0	0	5	2	5	2	7	3	1	0	7	3	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:101598834G>A	ENST00000335681.5	+	16	1909	c.1624G>A	c.(1624-1626)Gtc>Atc	p.V542I	NPAS2_ENST00000542504.1_Missense_Mutation_p.V607I	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	542					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGACTCCAACGTCCAGGTGAT	0.642																																																	0													54	46	49					2																	101598834		2203	4300	6503	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.1624G>A	2.37:g.101598834G>A	ENSP00000338283:p.Val542Ile		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.V607I	ENST00000335681.5	37	c.1819	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.41|12.41	1.930227|1.930227	0.34096|0.34096	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000433408|ENST00000335681;ENST00000542504;ENST00000450763	.|T;T;T	.|0.29397	.|3.58;3.55;1.57	5.56|5.56	-0.207|-0.207	0.13189|0.13189	.|.	.|0.988073	.|0.08257	.|N	.|0.973585	T|T	0.20901|0.20901	0.0503|0.0503	L|L	0.31207|0.31207	0.915|0.915	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.14012	.|0.009;0.0;0.003	.|B;B;B	.|0.09377	.|0.004;0.001;0.001	T|T	0.28933|0.28933	-1.0028|-1.0028	5|10	.|0.48119	.|T	.|0.1	.|.	6.7676|6.7676	0.23576|0.23576	0.4598:0.1286:0.4116:0.0|0.4598:0.1286:0.4116:0.0	.|.	.|607;542;542	.|F5H027;A0PJF9;Q99743	.|.;.;NPAS2_HUMAN	H|I	40|542;607;141	.|ENSP00000338283:V542I;ENSP00000438428:V607I;ENSP00000392125:V141I	.|ENSP00000338283:V542I	R|V	+|+	2|1	0|0	NPAS2|NPAS2	100965266|100965266	0.000000|0.000000	0.05858|0.05858	0.567000|0.567000	0.28434|0.28434	0.953000|0.953000	0.61014|0.61014	-0.490000|-0.490000	0.06482|0.06482	0.200000|0.200000	0.20447|0.20447	0.655000|0.655000	0.94253|0.94253	CGT|GTC	NPAS2	-	NULL	ENSG00000170485		0.642	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	-	0	24	0	G			101598834	1	tier1	-	no_errors	ENST00000542504	ensembl	human	known	74_37	missense	45.95	20	17	SNP	0.062	A	A	101598834	G	A	101598834	3	1	52	1	0	0	0	0	1	0	0	0	10602	1145	40	1	1682	1	NPAS2	2	101598834	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1903615	101598834	141600539	113	12453											
MAP4K4	9448	genome.wustl.edu	37	chr2	102456423	102456423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatccagcttaaggatcatAtagatcgtaccaggaagaag	16	8	10	7	1	1	2	1	0	0	2	3	5	2	4	2	2	2	2	2	2	7	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:102456423A>G	ENST00000347699.4	+	10	916	c.916A>G	c.(916-918)Ata>Gta	p.I306V	MAP4K4_ENST00000413150.2_Missense_Mutation_p.I306V|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.I286V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.I306V|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Missense_Mutation_p.I306V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.I306V	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	306					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TAAGGATCATATAGATCGTAC	0.388																																																	0													80	74	76					2																	102456423		1860	4098	5958	SO:0001583	missense	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.916A>G	2.37:g.102456423A>G	ENSP00000314363:p.Ile306Val		O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I306V	ENST00000347699.4	37	c.916	CCDS56130.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.47|17.47	3.397105|3.397105	0.62177|0.62177	.|.	.|.	ENSG00000071054|ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000413150;ENST00000347699;ENST00000417294;ENST00000350878|ENST00000421882	T;T;T;T;T;T;T|.	0.74632|.	1.04;-0.72;1.01;1.01;-0.72;-0.86;-0.7|.	5.91|5.91	4.71|4.71	0.59529|0.59529	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72003|0.72003	0.3407|0.3407	M|M	0.70275|0.70275	2.135|2.135	0.54753|0.54753	D|D	0.99998|0.99998	B;D;P;P;P;B;B;P;B;B|.	0.54207|.	0.329;0.965;0.847;0.722;0.817;0.013;0.013;0.905;0.022;0.022|.	B;P;P;B;P;B;B;P;B;B|.	0.53912|.	0.192;0.696;0.55;0.445;0.737;0.013;0.013;0.653;0.03;0.03|.	T|T	0.72478|0.72478	-0.4281|-0.4281	10|5	0.87932|.	D|.	0|.	.|.	13.3524|13.3524	0.60609|0.60609	0.869:0.131:0.0:0.0|0.869:0.131:0.0:0.0	.|.	286;306;306;286;306;306;306;306;306;306|.	B7Z388;B7Z3V5;E7ENQ1;E7ESS2;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948|.	.;.;.;.;.;M4K4_HUMAN;.;.;.;.|.	V|C	306;306;306;306;306;268;286|45	ENSP00000392830:I306V;ENSP00000313644:I306V;ENSP00000281111:I306V;ENSP00000389752:I306V;ENSP00000314363:I306V;ENSP00000409720:I268V;ENSP00000343658:I286V|.	ENSP00000313644:I306V|.	I|Y	+|+	1|2	0|0	MAP4K4|MAP4K4	101822855|101822855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.288000|7.288000	0.78691|0.78691	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	ATA|TAT	MAP4K4	-	superfamily_Kinase-like_dom	ENSG00000071054		0.388	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	-	0	42	0	A	NM_004834		102456423	1	tier1	-	no_errors	ENST00000324219	ensembl	human	known	74_37	missense	39.66	35	23	SNP	1.000	G	G	102456423	A	G	102456423	3	3	52	1	0	0	0	0	1	0	0	0	9300	449	16	4	954	4	MAP4K4	2	102456423	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	857589	102456423	140742950	114	12454											
IL1F9	56300	genome.wustl.edu	37	chr2	113742537	113742537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccggactggttcattGcctcctccaagagagaccag	8	9	9	15	1	1	2	1	0	0	2	4	4	4	3	6	2	1	1	6	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:113742537G>T	ENST00000259205.4	+	5	490	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S	IL36G_ENST00000376489.2_Missense_Mutation_p.A106S	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	141					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CTGGTTCATTGCCTCCTCCAA	0.502																																																	0													105	93	97					2																	113742537		2203	4300	6503	SO:0001583	missense	0			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.421G>T	2.37:g.113742537G>T	ENSP00000259205:p.Ala141Ser		Q56B91|Q6UVX7|Q7RTZ9	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.A141S	ENST00000259205.4	37	c.421	CCDS2108.1	2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693614	0.30052	.	.	ENSG00000136688	ENST00000376489;ENST00000259205	T;T	0.21543	2.0;2.0	4.39	3.43	0.39272	.	0.365960	0.23389	N	0.048715	T	0.23886	0.0578	L	0.45422	1.42	0.09310	N	1	D;P	0.69078	0.997;0.927	P;P	0.58520	0.84;0.759	T	0.11275	-1.0594	10	0.02654	T	1	-31.2199	9.0165	0.36173	0.0:0.0:0.78:0.22	.	106;141	Q9NZH8-2;Q9NZH8	.;IL36G_HUMAN	S	106;141	ENSP00000365672:A106S;ENSP00000259205:A141S	ENSP00000259205:A141S	A	+	1	0	IL36G	113459008	0.031000	0.19500	0.107000	0.21349	0.003000	0.03518	1.556000	0.36288	2.427000	0.82271	0.462000	0.41574	GCC	IL36G	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	ENSG00000136688		0.502	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36G	HGNC	protein_coding	OTTHUMT00000330713.2		0	27	0	G	NM_019618		113742537	1			no_errors	ENST00000259205	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.124	T	T	113742537	G	T	113742537	3	4	52	1	0	0	0	0	1	0	0	0	7684	1319	46	3	435	3	IL1F9	2	113742537	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	11286114	113742537	129456836	115	12455											
MARCO	8685	genome.wustl.edu	37	chr2	119739053	119739053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctggagcccaggggagtAaaggtgacttcgggaggcca	9	6	16	10	1	0	1	0	1	0	0	2	4	1	4	3	6	1	1	3	6	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:119739053A>G	ENST00000327097.4	+	9	970	c.835A>G	c.(835-837)Aaa>Gaa	p.K279E	MARCO_ENST00000541757.1_Missense_Mutation_p.K201E	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	279	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCAGGGGAGTAAAGGTGACTT	0.527																																					GBM(8;18 374 7467 11269 32796)												0													32	34	34					2																	119739053		2203	4300	6503	SO:0001583	missense	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"scavenger receptor class A, member 2"	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.835A>G	2.37:g.119739053A>G	ENSP00000318916:p.Lys279Glu		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.K279E	ENST00000327097.4	37	c.835	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	A	11.52	1.662151	0.29515	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	D;D	0.83673	-1.75;-1.75	5.33	4.12	0.48240	.	0.138892	0.46442	D	0.000299	D	0.87196	0.6117	M	0.71296	2.17	0.37328	D	0.909857	D	0.61697	0.99	P	0.60682	0.878	D	0.88432	0.3036	9	.	.	.	.	9.3802	0.38309	0.8214:0.1786:0.0:0.0	.	279	Q9UEW3	MARCO_HUMAN	E	279;279;201	ENSP00000318916:K279E;ENSP00000441769:K201E	.	K	+	1	0	MARCO	119455523	0.914000	0.31030	0.927000	0.36925	0.744000	0.42396	1.768000	0.38511	2.240000	0.73641	0.533000	0.62120	AAA	MARCO	-	NULL	ENSG00000019169		0.527	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0	20	0	A	NM_006770		119739053	1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.851	G	G	119739053	A	G	119739053	3	3	52	1	0	0	0	0	1	0	0	0	9349	363	13	4	869	4	MARCO	2	119739053	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	5996516	119739053	123460320	116	12456											
CLASP1	23332	genome.wustl.edu	37	chr2	122125240	122125240	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtaggtgttgatggcatcTgagtaggggtacgggttgta	7	13	17	4	2	1	2	0	2	1	0	2	2	1	2	0	5	1	7	0	5	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:122125240T>C	ENST00000263710.4	-	35	4199	c.3810A>G	c.(3808-3810)tcA>tcG	p.S1270S	CLASP1_ENST00000541377.1_Silent_p.S1209S|CLASP1_ENST00000455322.2_Silent_p.S1226S|CLASP1_ENST00000545861.1_Silent_p.S977S|CLASP1_ENST00000397587.3_Silent_p.S1210S|CLASP1_ENST00000409078.3_Silent_p.S1203S|CLASP1_ENST00000541859.1_Silent_p.S987S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1270	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGATGGCATCTGAGTAGGGGT	0.582																																																	0													143	146	145					2																	122125240		2062	4190	6252	SO:0001819	synonymous_variant	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3810A>G	2.37:g.122125240T>C			B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Silent	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S1270	ENST00000263710.4	37	c.3810		2																																																																																			CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.582	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0	66	0	T	NM_015282		122125240	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	silent	32.31	88	42	SNP	0.000	C	C	122125240	T	C	122125240	2	2	52	1	0	0	0	0	0	0	0	1	3461	1567	55	4		4	CLASP1	2	122125240	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2386187	122125240	121074133	117	12457											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125547549	125547549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttgaatggacagaaaatGgacctggaagagagggcaaa	17	5	13	6	0	0	3	0	1	0	2	0	7	0	6	1	4	0	1	1	4	5	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:125547549G>A	ENST00000431078.1	+	18	3184	c.2820G>A	c.(2818-2820)atG>atA	p.M940I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	940	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAGAAAATGGACCTGGAAG	0.527																																																	0													65	66	66					2																	125547549		2070	4224	6294	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2820G>A	2.37:g.125547549G>A	ENSP00000399013:p.Met940Ile		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.M940I	ENST00000431078.1	37	c.2820	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305870	0.40795	.	.	ENSG00000155052	ENST00000431078	T	0.46819	0.86	5.24	1.07	0.20283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.588457	0.13880	N	0.356403	T	0.10895	0.0266	N	0.00162	-1.95	0.19300	N	0.999972	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.39692	T	0.17	.	3.1761	0.06569	0.0913:0.1226:0.312:0.474	.	940	Q8WYK1	CNTP5_HUMAN	I	940	ENSP00000399013:M940I	ENSP00000399013:M940I	M	+	3	0	CNTNAP5	125264019	0.997000	0.39634	0.947000	0.38551	0.992000	0.81027	0.354000	0.20146	0.683000	0.31428	0.655000	0.94253	ATG	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000155052		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	46	0	G			125547549	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.972	A	A	125547549	G	A	125547549	3	1	52	1	0	0	0	0	1	0	0	0	3657	1348	47	3	2890	3	CNTNAP5	2	125547549	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3422309	125547549	117651824	118	12458											
BIN1	274	genome.wustl.edu	37	chr2	127825800	127825801	+	Frame_Shift_Ins	INS	-	-	G																															cagtttgccttggcaccactINSggggggcggctttctcaagc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:127825800_127825801insG	ENST00000316724.5	-	7	961_962	c.550_551insC	c.(550-552)cagfs	p.Q184fs	BIN1_ENST00000346226.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000357970.3_Frame_Shift_Ins_p.Q184fs|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000351659.3_Frame_Shift_Ins_p.Q184fs	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	184	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTGGCACCACTGGGGGGCGGCT	0.584											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"amphiphysin II"	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.551dupC	2.37:g.127825806_127825806dupG	ENSP00000316779:p.Gln184fs	1560	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Frame_Shift_Ins	INS	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain	p.Q184fs	ENST00000316724.5	37	c.551_550	CCDS2138.1	2																																																																																			BIN1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000136717		0.584	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN1	HGNC	protein_coding	OTTHUMT00000254298.2		0	20	0	-	NM_139343		127825801	-1	tier1		no_errors	ENST00000316724	ensembl	human	known	74_37	frame_shift_ins	35.94	41	23	INS	1.000:1.000	G	G	127825801	-	G	127825800	7	5	52	1	0	1	1	0	0	0	0	0	1434	1580	55	0	1331	0	BIN1	2	127825800	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	2278251	127825800	115373573	119	12459											
UGGT1	56886	genome.wustl.edu	37	chr2	128900742	128900742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggagaagaaatatccGtatgtagaagtgaatagcat	15	10	11	5	1	0	4	0	1	0	3	2	5	2	4	2	1	1	3	2	1	8	4	rs548464056		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:128900742G>A	ENST00000259253.6	+	17	1841	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	UGGT1_ENST00000375990.3_Silent_p.P574P	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	598					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAATATCCGTATGTAGAAG	0.353																																																	0													183	177	179					2																	128900742		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1794G>A	2.37:g.128900742G>A			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	pfam_UDP-g_GGtrans	p.P598	ENST00000259253.6	37	c.1794	CCDS2154.1	2																																																																																			UGGT1	-	NULL	ENSG00000136731		0.353	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	71	0	G	NM_020120		128900742	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	silent	27.18	75	28	SNP	0.084	A	A	128900742	G	A	128900742	2	1	52	1	0	0	0	0	0	0	0	1	16990	1132	40	1		1	UGGT1	2	128900742	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1074942	128900742	114298631	120	12460											
TUBA3D	113457	genome.wustl.edu	37	chr2	132236889	132236889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcttttgcagatgaagtgCgcacagggacctacaggcag	10	9	12	10	1	1	2	0	1	1	1	2	3	1	3	1	2	3	3	1	2	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:132236889C>T	ENST00000321253.6	+	3	342	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	79					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AGATGAAGTGCGCACAGGGAC	0.512																																					Ovarian(137;2059 2432 35543 39401)												0													127	121	123					2																	132236889		2203	4300	6503	SO:0001583	missense	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.235C>T	2.37:g.132236889C>T	ENSP00000326042:p.Arg79Cys		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.R79C	ENST00000321253.6	37	c.235	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	c	11.50	1.656771	0.29425	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.69685	-0.42	2.13	2.13	0.27403	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.45867	U	0.000332	T	0.82033	0.4949	M	0.91920	3.255	0.58432	D	0.999999	D	0.71674	0.998	D	0.68483	0.958	D	0.84234	0.0468	10	0.72032	D	0.01	.	9.9103	0.41401	0.0:1.0:0.0:0.0	.	79	Q13748	TBA3C_HUMAN	C	79	ENSP00000326042:R79C	ENSP00000326042:R79C	R	+	1	0	TUBA3D	131953359	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	6.468000	0.73551	1.180000	0.42898	0.194000	0.17425	CGC	TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin	ENSG00000075886		0.512	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	-	0	42	0	C	NM_080386		132236889	1	tier1	-	no_errors	ENST00000321253	ensembl	human	known	74_37	missense	14.08	61	10	SNP	1.000	T	T	132236889	C	T	132236889	3	4	52	1	0	0	0	0	1	0	0	0	16796	768	27	1	245	1	TUBA3D	2	132236889	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3336147	132236889	110962484	121	12461											
NCKAP5	344148	genome.wustl.edu	37	chr2	133489420	133489420	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcagggcgctggccgTctgtggaggaaggcacttca	7	9	15	10	2	3	0	1	0	2	0	3	2	3	2	1	5	1	3	1	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:133489420T>G	ENST00000409261.1	-	17	5706	c.5333A>C	c.(5332-5334)gAc>gCc	p.D1778A	NCKAP5_ENST00000409213.1_Missense_Mutation_p.D459A|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1778A|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Missense_Mutation_p.D459A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1778										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCGCTGGCCGTCTGTGGAGGA	0.592																																																	0													93	97	95					2																	133489420		2070	4201	6271	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5333A>C	2.37:g.133489420T>G	ENSP00000387128:p.Asp1778Ala		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.D1778A	ENST00000409261.1	37	c.5333	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	6.394	0.440770	0.12104	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.46063	2.9;0.88;2.9;0.88	5.2	4.04	0.47022	.	0.644862	0.11907	U	0.518030	T	0.30727	0.0774	L	0.27053	0.805	0.09310	N	1	P;B	0.41848	0.763;0.003	B;B	0.37144	0.242;0.006	T	0.08351	-1.0726	10	0.56958	D	0.05	.	11.2981	0.49290	0.0:0.0:0.2889:0.7111	.	459;1778	O14513-2;O14513	.;NCKP5_HUMAN	A	1778;459;1778;459;459	ENSP00000387128:D1778A;ENSP00000386952:D459A;ENSP00000380603:D1778A;ENSP00000385692:D459A	ENSP00000380603:D1778A	D	-	2	0	NCKAP5	133205890	0.998000	0.40836	0.062000	0.19696	0.027000	0.11550	2.905000	0.48727	1.011000	0.39340	-0.258000	0.10820	GAC	NCKAP5	-	NULL	ENSG00000176771		0.592	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	38	0	T	NM_207481		133489420	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.163	G	G	133489420	T	G	133489420	3	3	52	1	0	0	0	0	1	0	0	0	10262	1667	58	4	412	4	NCKAP5	2	133489420	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1252531	133489420	109709953	122	12462											
NCKAP5	344148	genome.wustl.edu	37	chr2	133539753	133539753	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgattttagttgtctgTttccaaaccccaagactttt	8	19	5	9	0	2	2	0	1	2	1	3	2	3	2	3	0	1	2	3	0	3	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:133539753T>A	ENST00000409261.1	-	14	5004	c.4631A>T	c.(4630-4632)aAc>aTc	p.N1544I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.N1544I|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1544										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAGTTGTCTGTTTCCAAACCC	0.388																																																	0													101	101	101					2																	133539753		1832	4084	5916	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4631A>T	2.37:g.133539753T>A	ENSP00000387128:p.Asn1544Ile		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.N1544I	ENST00000409261.1	37	c.4631	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849486	0.32699	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.10099	2.91;2.91	4.96	2.62	0.31277	.	.	.	.	.	T	0.05273	0.0140	N	0.12182	0.205	0.80722	D	1	B	0.24721	0.11	B	0.29598	0.104	T	0.41052	-0.9530	9	0.19590	T	0.45	.	4.2213	0.10559	0.1594:0.1681:0.0:0.6725	.	1544	O14513	NCKP5_HUMAN	I	1544	ENSP00000387128:N1544I;ENSP00000380603:N1544I	ENSP00000380603:N1544I	N	-	2	0	NCKAP5	133256223	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	1.628000	0.37060	0.401000	0.25424	-0.353000	0.07706	AAC	NCKAP5	-	NULL	ENSG00000176771		0.388	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	31	0	T	NM_207481		133539753	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.999	A	A	133539753	T	A	133539753	3	1	52	1	0	0	0	0	1	0	0	0	10262	1725	60	5	1126	5	NCKAP5	2	133539753	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	50333	133539753	109659620	123	12463											
NCKAP5	344148	genome.wustl.edu	37	chr2	133540491	133540491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattggtaatgatctgagtgCggactttgcctgacccttcg	7	14	11	9	2	1	3	0	3	1	0	2	4	1	4	2	2	2	1	2	2	2	5	rs545006757		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:133540491C>T	ENST00000409261.1	-	14	4266	c.3893G>A	c.(3892-3894)cGc>cAc	p.R1298H	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1298H|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1298										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GATCTGAGTGCGGACTTTGCC	0.567													C|||	1	0.000199681	0	0	5008	,	,		17932	0.001		0	False		,,,				2504	0																0													84	85	85					2																	133540491		1958	4160	6118	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3893G>A	2.37:g.133540491C>T	ENSP00000387128:p.Arg1298His		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.R1298H	ENST00000409261.1	37	c.3893	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314365	0.81358	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.29655	1.56;1.56	5.5	5.5	0.81552	.	0.000000	0.33075	U	0.005314	T	0.46908	0.1417	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.38693	-0.9649	10	0.66056	D	0.02	.	17.7704	0.88490	0.0:1.0:0.0:0.0	.	1298	O14513	NCKP5_HUMAN	H	1298	ENSP00000387128:R1298H;ENSP00000380603:R1298H	ENSP00000380603:R1298H	R	-	2	0	NCKAP5	133256961	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	6.542000	0.73869	2.854000	0.98071	0.655000	0.94253	CGC	NCKAP5	-	NULL	ENSG00000176771		0.567	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	72	0	C	NM_207481		133540491	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	22.35	66	19	SNP	1.000	T	T	133540491	C	T	133540491	3	4	52	1	0	0	0	0	1	0	0	0	10262	768	27	1	1864	1	NCKAP5	2	133540491	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	738	133540491	109658882	124	12464											
YSK4	80122	genome.wustl.edu	37	chr2	135763096	135763096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagtcaccatcttggtcGaactcctgcaatatcataaa	12	11	6	12	1	3	0	2	0	1	0	5	1	4	0	2	1	3	2	2	1	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:135763096G>A	ENST00000375845.3	-	3	174	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MAP3K19_ENST00000392918.3_Silent_p.F48F|MAP3K19_ENST00000392915.1_Silent_p.F65F|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Silent_p.F48F|MAP3K19_ENST00000392917.3_Silent_p.F48F|MAP3K19_ENST00000358371.4_Silent_p.F48F	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	48							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CATCTTGGTCGAACTCCTGCA	0.423																																																	0													111	96	101					2																	135763096		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.144C>T	2.37:g.135763096G>A			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F48	ENST00000375845.3	37	c.144	CCDS2176.2	2																																																																																			MAP3K19	-	NULL	ENSG00000176601		0.423	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	-	0	54	0	G	NM_025052		135763096	-1	tier1	-	no_errors	ENST00000375845	ensembl	human	known	74_37	silent	44.44	45	36	SNP	0.993	A	A	135763096	G	A	135763096	2	1	52	1	0	0	0	0	0	0	0	1	17544	1049	37	1		1	YSK4	2	135763096	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2222605	135763096	107436277	125	12465											
LRP1B	53353	genome.wustl.edu	37	chr2	141751679	141751679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctccagctttacatatGtgaggtagtgcttctccagg	9	13	9	10	0	2	1	0	1	2	0	4	1	2	1	2	2	4	3	2	2	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:141751679G>T	ENST00000389484.3	-	16	3500	c.2529C>A	c.(2527-2529)caC>caA	p.H843Q	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	843					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTTACATATGTGAGGTAGTG	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													119	114	116					2																	141751679		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2529C>A	2.37:g.141751679G>T	ENSP00000374135:p.His843Gln		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H843Q	ENST00000389484.3	37	c.2529	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098617	0.20552	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.76	-1.58	0.08479	.	0.317775	0.30101	U	0.010411	T	0.77994	0.4214	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.59984	-0.7351	10	0.11485	T	0.65	.	2.7163	0.05188	0.4007:0.2752:0.2311:0.0929	.	843	Q9NZR2	LRP1B_HUMAN	Q	843;781	ENSP00000374135:H843Q	ENSP00000374135:H843Q	H	-	3	2	LRP1B	141468149	0.023000	0.18921	0.007000	0.13788	0.759000	0.43091	0.203000	0.17315	-0.334000	0.08463	0.563000	0.77884	CAC	LRP1B	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	52	0	G	NM_018557		141751679	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.023	T	T	141751679	G	T	141751679	3	4	52	1	0	0	0	0	1	0	0	0	8990	1368	48	3	11574	3	LRP1B	2	141751679	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	5988583	141751679	101447694	126	12466											
ZEB2	9839	genome.wustl.edu	37	chr2	145156467	145156467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatattggtaaaatgggaagGttttgttagcctgagaggag	13	12	14	2	0	0	1	0	1	0	1	0	4	0	3	1	4	1	3	1	4	6	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:145156467G>A	ENST00000558170.2	-	8	3471	c.2287C>T	c.(2287-2289)Cct>Tct	p.P763S	ZEB2_ENST00000303660.4_Missense_Mutation_p.P763S|ZEB2_ENST00000539609.3_Missense_Mutation_p.P739S|ZEB2_ENST00000409487.3_Missense_Mutation_p.P763S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	763					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AAATGGGAAGGTTTTGTTAGC	0.403																																					Melanoma(33;1235 1264 5755 16332)												0													203	212	209					2																	145156467		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2287C>T	2.37:g.145156467G>A	ENSP00000454157:p.Pro763Ser		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P763S	ENST00000558170.2	37	c.2287	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.551792	0.00918	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.10763	2.84;2.84;2.84	5.16	4.23	0.50019	.	0.202593	0.52532	N	0.000080	T	0.03178	0.0093	N	0.01729	-0.75	0.36861	D	0.888417	B;B;B;B	0.16396	0.017;0.001;0.0;0.0	B;B;B;B	0.10450	0.005;0.002;0.001;0.001	T	0.30679	-0.9970	10	0.06099	T	0.92	-2.4642	7.8667	0.29541	0.2073:0.0:0.7927:0.0	.	739;628;762;763	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	739;763;763	ENSP00000443792:P739S;ENSP00000302501:P763S;ENSP00000386854:P763S	ENSP00000302501:P763S	P	-	1	0	ZEB2	144872937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.484000	0.45242	1.150000	0.42419	0.655000	0.94253	CCT	ZEB2	-	NULL	ENSG00000169554		0.403	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0	44	0	G	NM_014795		145156467	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	A	A	145156467	G	A	145156467	3	1	52	1	0	0	0	0	1	0	0	0	17672	1261	44	3	1369	3	ZEB2	2	145156467	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3404788	145156467	98042906	127	12467											
ACVR2A	92	genome.wustl.edu	37	chr2	148677866	148677866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcattgctgactttgggttgGccttaaaatttgaggctggc	7	14	13	7	0	0	2	0	2	0	0	0	2	0	2	1	4	1	4	1	4	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:148677866G>A	ENST00000241416.7	+	8	1666	c.1030G>A	c.(1030-1032)Gcc>Acc	p.A344T	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A344T|ACVR2A_ENST00000535787.1_Missense_Mutation_p.A236T	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTTGGGTTGGCCTTAAAATT	0.353																																																	0													91	95	94					2																	148677866		2203	4300	6503	SO:0001583	missense	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"activin A receptor, type II"	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1030G>A	2.37:g.148677866G>A	ENSP00000241416:p.Ala344Thr		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.A344T	ENST00000241416.7	37	c.1030	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.708377	0.96821	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	T;T;T	0.75821	-0.97;-0.97;-0.97	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91438	0.5171	10	0.87932	D	0	.	19.586	0.95490	0.0:0.0:1.0:0.0	.	344	P27037	AVR2A_HUMAN	T	344;236;344	ENSP00000241416:A344T;ENSP00000439988:A236T;ENSP00000384338:A344T	ENSP00000241416:A344T	A	+	1	0	ACVR2A	148394336	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.809000	0.99208	2.699000	0.92147	0.655000	0.94253	GCC	ACVR2A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	ENSG00000121989		0.353	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	-	0	18	0	G	NM_001616		148677866	1	tier1	-	no_errors	ENST00000241416	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A	A	148677866	G	A	148677866	3	1	52	1	0	0	0	0	1	0	0	0	223	1203	42	3	1060	3	ACVR2A	2	148677866	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3521399	148677866	94521507	128	12468											
KIF5C	3800	genome.wustl.edu	37	chr2	149854978	149854978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcagctgtccagactccGagacgaaattgaggagaagc	14	5	13	9	2	0	4	0	1	0	3	2	8	2	4	2	1	3	2	2	1	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:149854978G>A	ENST00000435030.1	+	19	2533	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R627Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.R490Q			O60282	KIF5C_HUMAN	kinesin family member 5C	722					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TCCAGACTCCGAGACGAAATT	0.572																																																	0													22	26	25					2																	149854978		2061	4203	6264	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2165G>A	2.37:g.149854978G>A	ENSP00000393379:p.Arg722Gln		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R722Q	ENST00000435030.1	37	c.2165		2	.	.	.	.	.	.	.	.	.	.	G	36	5.831598	0.97003	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.86769	-2.17;-2.17;-2.17	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000001	D	0.93979	0.8072	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93199	0.6590	8	.	.	.	.	20.0278	0.97529	0.0:0.0:1.0:0.0	.	722	O60282	KIF5C_HUMAN	Q	722;627;625;490	ENSP00000393379:R722Q;ENSP00000410115:R627Q;ENSP00000380560:R490Q	.	R	+	2	0	KIF5C	149563224	1.000000	0.71417	0.928000	0.36995	0.850000	0.48378	9.864000	0.99589	2.717000	0.92951	0.650000	0.86243	CGA	KIF5C	-	NULL	ENSG00000168280		0.572	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	-	0	31	0	G	NM_004522		149854978	1	tier1	-	no_errors	ENST00000435030	ensembl	human	known	74_37	missense	42.86	40	30	SNP	1.000	A	A	149854978	G	A	149854978	3	1	52	1	0	0	0	0	1	0	0	0	8334	1058	37	1	2161	1	KIF5C	2	149854978	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1177112	149854978	93344395	129	12469											
NEB	4703	genome.wustl.edu	37	chr2	152410372	152410372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgtgactttcctgacGtgatcattgacttgcaagtc	8	15	9	9	1	2	5	1	5	1	0	4	5	3	5	1	0	1	1	1	0	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:152410372G>A	ENST00000172853.10	-	98	14640	c.14493C>T	c.(14491-14493)caC>caT	p.H4831H	NEB_ENST00000603639.1_Silent_p.H6532H|NEB_ENST00000409198.1_Silent_p.H4831H|NEB_ENST00000604864.1_Silent_p.H6532H|NEB_ENST00000427231.2_Silent_p.H6532H|NEB_ENST00000397345.3_Silent_p.H6532H			P20929	NEBU_HUMAN	nebulin	4831					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTTCCTGACGTGATCATTGA	0.542																																																	0													101	102	102					2																	152410372		2000	4171	6171	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14493C>T	2.37:g.152410372G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H6532	ENST00000172853.10	37	c.19596		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.542	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	27	0	G	NM_004543		152410372	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	27.69	47	18	SNP	0.992	A	A	152410372	G	A	152410372	2	1	52	1	0	0	0	0	0	0	0	1	10341	1136	40	1		1	NEB	2	152410372	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2555394	152410372	90789001	130	12470											
GPD2	2820	genome.wustl.edu	37	chr2	157407142	157407142	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacgtgagagccaaatgTgttatcaatgccacgggacc	11	10	11	9	2	1	2	1	2	0	1	1	4	1	3	3	1	2	1	3	1	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:157407142T>C	ENST00000310454.6	+	8	1227	c.855T>C	c.(853-855)tgT>tgC	p.C285C	GPD2_ENST00000540309.1_Silent_p.C285C|GPD2_ENST00000438166.2_Silent_p.C285C|GPD2_ENST00000409674.1_Silent_p.C285C|GPD2_ENST00000409125.4_Silent_p.C58C	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	285					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GAGCCAAATGTGTTATCAATG	0.453																																																	0													136	116	123					2																	157407142		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.855T>C	2.37:g.157407142T>C			A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.C285	ENST00000310454.6	37	c.855	CCDS2202.1	2																																																																																			GPD2	-	pfam_FAD-dep_OxRdtase	ENSG00000115159		0.453	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	-	0	33	0	T			157407142	1	tier1	-	no_errors	ENST00000310454	ensembl	human	known	74_37	silent	45.00	22	18	SNP	1.000	C	C	157407142	T	C	157407142	2	2	52	1	0	0	0	0	0	0	0	1	6632	1702	59	4		4	GPD2	2	157407142	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	4996770	157407142	85792231	131	12471											
CCDC148	130940	genome.wustl.edu	37	chr2	159035476	159035476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctttttctccatcaaaCgcctttccaataattcttgt	8	18	2	13	1	3	0	1	0	2	0	6	0	5	0	4	0	1	0	4	0	3	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:159035476C>T	ENST00000283233.5	-	12	1716	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.R477H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	468										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCCATCAAACGCCTTTCCAA	0.388																																																	0													92	92	92					2																	159035476		2203	4300	6503	SO:0001583	missense	0				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1403G>A	2.37:g.159035476C>T	ENSP00000283233:p.Arg468His		F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	NULL	p.R468H	ENST00000283233.5	37	c.1403	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377479	0.82682	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	T;T	0.37584	1.19;1.19	5.93	5.05	0.67936	.	.	.	.	.	T	0.24084	0.0583	L	0.29908	0.895	0.80722	D	1	P;P	0.41710	0.63;0.76	B;B	0.29663	0.105;0.105	T	0.07616	-1.0763	9	0.72032	D	0.01	-5.4087	13.7277	0.62767	0.0:0.9258:0.0:0.0742	.	477;468	B8ZZV3;Q8NFR7	.;CC148_HUMAN	H	468;477	ENSP00000283233:R468H;ENSP00000386674:R477H	ENSP00000283233:R468H	R	-	2	0	CCDC148	158743722	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.997000	0.40786	1.517000	0.48917	0.655000	0.94253	CGT	CCDC148	-	NULL	ENSG00000153237		0.388	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	-	0	43	0	C	NM_138803		159035476	-1	tier1	-	no_errors	ENST00000283233	ensembl	human	known	74_37	missense	28.36	48	19	SNP	1.000	T	T	159035476	C	T	159035476	3	4	52	1	0	0	0	0	1	0	0	0	2789	536	19	1	384	1	CCDC148	2	159035476	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1628334	159035476	84163897	132	12472											
TANC1	85461	genome.wustl.edu	37	chr2	160050800	160050800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgattttgggaggggccaaCgtgaactacaggacagaagt	12	8	14	7	1	0	3	0	2	0	1	0	5	0	5	1	4	3	0	1	4	4	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:160050800C>T	ENST00000263635.6	+	17	3012	c.2775C>T	c.(2773-2775)aaC>aaT	p.N925N	TANC1_ENST00000454300.1_Silent_p.N819N	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	925					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GAGGGGCCAACGTGAACTACA	0.502																																																	0													77	77	77					2																	160050800		1970	4154	6124	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2775C>T	2.37:g.160050800C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.N925	ENST00000263635.6	37	c.2775	CCDS42766.1	2																																																																																			TANC1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115183		0.502	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	-	0	34	0	C			160050800	1	tier1	-	no_errors	ENST00000263635	ensembl	human	known	74_37	silent	25.00	54	18	SNP	0.954	T	T	160050800	C	T	160050800	2	4	52	1	0	0	0	0	0	0	0	1	15591	535	19	1		1	TANC1	2	160050800	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1015324	160050800	83148573	133	12473											
FAP	2191	genome.wustl.edu	37	chr2	163055317	163055317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcgctgaaacttgctgtgTaatattggcacctttctttc	8	16	8	9	1	1	1	0	1	1	0	3	1	1	1	1	1	2	4	1	1	3	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:163055317T>C	ENST00000188790.4	-	16	1559	c.1352A>G	c.(1351-1353)tAc>tGc	p.Y451C	FAP_ENST00000443424.1_Missense_Mutation_p.Y426C	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACTTGCTGTGTAATATTGGCA	0.438																																																	0													238	196	211					2																	163055317		2203	4300	6503	SO:0001583	missense	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1352A>G	2.37:g.163055317T>C	ENSP00000188790:p.Tyr451Cys			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.Y451C	ENST00000188790.4	37	c.1352	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125393	0.77436	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.37235	1.21;1.21	6.05	6.05	0.98169	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.056076	0.64402	D	0.000001	T	0.64702	0.2622	M	0.84082	2.675	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.83275	0.984;0.996	T	0.68288	-0.5448	10	0.56958	D	0.05	-5.6581	16.5932	0.84781	0.0:0.0:0.0:1.0	.	426;451	B4DLR2;Q12884	.;SEPR_HUMAN	C	451;426	ENSP00000188790:Y451C;ENSP00000411391:Y426C	ENSP00000188790:Y451C	Y	-	2	0	FAP	162763563	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.908000	0.69916	2.320000	0.78422	0.528000	0.53228	TAC	FAP	-	pfam_Peptidase_S9B	ENSG00000078098		0.438	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	-	0	61	0	T			163055317	-1	tier1	-	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	29.87	54	23	SNP	1.000	C	C	163055317	T	C	163055317	3	2	52	1	0	0	0	0	1	0	0	0	5695	1638	57	4	974	4	FAP	2	163055317	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	3004517	163055317	80144056	134	12474											
TTC21B	79809	genome.wustl.edu	37	chr2	166781085	166781085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatttcacttttgctattAggaagactgtttgcagaaga	13	15	8	5	0	1	3	1	0	0	3	1	4	1	4	0	1	2	3	0	1	6	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:166781085A>T	ENST00000243344.7	-	12	1627	c.1490T>A	c.(1489-1491)cTa>cAa	p.L497Q		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	497					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTTTGCTATTAGGAAGACTGT	0.383																																																	0													43	46	45					2																	166781085		2203	4300	6503	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.1490T>A	2.37:g.166781085A>T	ENSP00000243344:p.Leu497Gln		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L497Q	ENST00000243344.7	37	c.1490	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315449	0.81358	.	.	ENSG00000123607	ENST00000243344	T	0.75477	-0.94	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84843	0.0809	10	0.46703	T	0.11	-9.2055	16.0824	0.81014	1.0:0.0:0.0:0.0	.	497	Q7Z4L5	TT21B_HUMAN	Q	497	ENSP00000243344:L497Q	ENSP00000243344:L497Q	L	-	2	0	TTC21B	166489331	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.771000	0.91751	2.203000	0.70933	0.459000	0.35465	CTA	TTC21B	-	smart_TPR_repeat	ENSG00000123607		0.383	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	-	0	34	0	A	NM_024753		166781085	-1	tier1	-	no_errors	ENST00000243344	ensembl	human	known	74_37	missense	40.91	39	27	SNP	1.000	T	T	166781085	A	T	166781085	3	4	52	1	0	0	0	0	1	0	0	0	16737	420	15	5	2532	5	TTC21B	2	166781085	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3725768	166781085	76418288	135	12475											
XIRP2	129446	genome.wustl.edu	37	chr2	168107566	168107566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgtctcctgcaacacttCgtcgtcaaattaagatagaa	13	12	6	10	2	3	2	2	0	1	2	6	2	3	2	1	0	2	1	1	0	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:168107566C>T	ENST00000409195.1	+	9	9753	c.9664C>T	c.(9664-9666)Cgt>Tgt	p.R3222C	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R3000C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R3222C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3047					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCAACACTTCGTCGTCAAAT	0.448																																																	0													68	67	67					2																	168107566		1912	4132	6044	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9664C>T	2.37:g.168107566C>T	ENSP00000386840:p.Arg3222Cys		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R3222C	ENST00000409195.1	37	c.9664	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871719	0.51695	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02916	4.12;4.12;4.11	5.45	3.54	0.40534	.	0.401019	0.23325	N	0.049416	T	0.13200	0.0320	M	0.72894	2.215	0.37992	D	0.933932	D;D;D	0.89917	1.0;1.0;0.975	D;D;B	0.91635	0.997;0.999;0.288	T	0.02625	-1.1132	10	0.87932	D	0	-7.4907	13.2499	0.60045	0.386:0.614:0.0:0.0	.	3047;3047;3000	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	3222;3222;3000;636	ENSP00000386840:R3222C;ENSP00000295237:R3222C;ENSP00000387255:R3000C	ENSP00000295237:R3222C	R	+	1	0	XIRP2	167815812	0.984000	0.35163	0.917000	0.36280	0.994000	0.84299	2.421000	0.44688	1.432000	0.47375	0.460000	0.39030	CGT	XIRP2	-	NULL	ENSG00000163092		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	12	0	C	NM_152381		168107566	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.422	T	T	168107566	C	T	168107566	3	4	52	1	0	0	0	0	1	0	0	0	17479	884	31	1	9694	1	XIRP2	2	168107566	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1326481	168107566	75091807	136	12476											
MYO3B	140469	genome.wustl.edu	37	chr2	171371459	171371459	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaccaaagcagtgggccAcattcccccgtcgcagcagg	11	5	10	15	2	1	0	1	0	0	0	3	0	2	0	4	2	3	3	4	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:171371459A>G	ENST00000408978.4	+	29	3542	c.3399A>G	c.(3397-3399)ccA>ccG	p.P1133P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Silent_p.P1142P|MYO3B_ENST00000409044.3_Silent_p.P1106P	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1133					peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGTGGGCCACATTCCCCCG	0.493																																																	0													66	67	66					2																	171371459		1927	4132	6059	SO:0001819	synonymous_variant	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3399A>G	2.37:g.171371459A>G			B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.P1142	ENST00000408978.4	37	c.3426	CCDS42773.1	2																																																																																			MYO3B	-	NULL	ENSG00000071909		0.493	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	-	0	27	0	A			171371459	1	tier1	-	no_errors	ENST00000334231	ensembl	human	known	74_37	silent	41.67	28	20	SNP	0.000	G	G	171371459	A	G	171371459	2	3	52	1	0	0	0	0	0	0	0	1	10115	146	6	4		4	MYO3B	2	171371459	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3263893	171371459	71827914	137	12477											
ITGA6	3655	genome.wustl.edu	37	chr2	173335732	173335733	+	Frame_Shift_Ins	INS	-	-	T																															gtagagcaaaagaataacacINStttttttgacatgaacatct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:173335732_173335733insT	ENST00000264106.6	+	5	877_878	c.674_675insT	c.(673-678)acttttfs	p.TF225fs	ITGA6_ENST00000409080.1_Frame_Shift_Ins_p.TF225fs|ITGA6_ENST00000375221.2_Frame_Shift_Ins_p.TF225fs|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000264107.7_Frame_Shift_Ins_p.TF225fs|ITGA6_ENST00000343713.4_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	225					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AAGAATAACACTTTTTTTGACA	0.347																																																	0																																										SO:0001589	frameshift_variant	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.681dupT	2.37:g.173335739_173335739dupT	ENSP00000264106:p.Thr225fs		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D228fs	ENST00000264106.6	37	c.674_675		2																																																																																			ITGA6	-	NULL	ENSG00000091409		0.347	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding			0	37	0	-			173335733	1	tier1		no_errors	ENST00000264106	ensembl	human	known	74_37	frame_shift_ins	21.43	55	15	INS	1.000:1.000	T	T	173335733	-	T	173335732	7	5	52	1	0	1	1	0	0	0	0	0	7907	565	20	0	692	0	ITGA6	2	173335732	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	1964273	173335732	69863641	138	12478											
TTN	7273	genome.wustl.edu	37	chr2	179445156	179445156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttcacagcgcaagaaaGtgtcaaagtcagttgacttt	13	12	8	8	1	3	2	3	1	0	1	3	2	3	2	0	0	1	2	0	0	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:179445156G>A	ENST00000591111.1	-	267	62251	c.62027C>T	c.(62026-62028)aCt>aTt	p.T20676I	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13252I|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13444I|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T19749I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13377I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T22317I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20676					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCGCAAGAAAGTGTCAAAGTC	0.388																																																	0													156	141	146					2																	179445156		1887	4105	5992	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62027C>T	2.37:g.179445156G>A	ENSP00000465570:p.Thr20676Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T19749I	ENST00000591111.1	37	c.59246		2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407583	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.34	5.34	0.76211	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70228	0.3200	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.75587	-0.3266	9	0.87932	D	0	.	19.0305	0.92955	0.0:0.0:1.0:0.0	.	13252;13377;13444;20676	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	19749;13252;13444;13377;13250	ENSP00000343764:T19749I;ENSP00000434586:T13252I;ENSP00000340554:T13444I;ENSP00000352154:T13377I	ENSP00000340554:T13444I	T	-	2	0	TTN	179153402	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.018000	0.88722	2.500000	0.84329	0.563000	0.77884	ACT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	33	0	G	NM_133378		179445156	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	40.68	35	24	SNP	1.000	A	A	179445156	G	A	179445156	3	1	52	1	0	0	0	0	1	0	0	0	16784	1029	36	3	41213	3	TTN	2	179445156	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6109424	179445156	63754217	139	12479											
TTN	7273	genome.wustl.edu	37	chr2	179584079	179584079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccagccaactgaaatcGgggctgagccagagactcgg	13	4	13	11	2	0	3	0	2	0	1	2	5	0	3	3	3	4	1	3	3	3	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:179584079G>A	ENST00000591111.1	-	81	23311	c.23087C>T	c.(23086-23088)cCg>cTg	p.P7696L	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6769L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P8013L			Q8WZ42	TITIN_HUMAN	titin	13239	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTGAAATCGGGGCTGAGCC	0.507																																																	0													103	105	104					2																	179584079		1899	4110	6009	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23087C>T	2.37:g.179584079G>A	ENSP00000465570:p.Pro7696Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P6769L	ENST00000591111.1	37	c.20306		2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449030	0.43531	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81721	0.4882	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81417	-0.0942	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7696	Q8WZ42	TITIN_HUMAN	L	6769	ENSP00000343764:P6769L	ENSP00000343764:P6769L	P	-	2	0	TTN	179292324	1.000000	0.71417	0.924000	0.36721	0.639000	0.38242	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	CCG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	47	0	G	NM_133378		179584079	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	54.55	20	24	SNP	1.000	A	A	179584079	G	A	179584079	3	1	52	1	0	0	0	0	1	0	0	0	16784	1116	39	1	80611	1	TTN	2	179584079	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	138923	179584079	63615294	140	12480											
NUP35	129401	genome.wustl.edu	37	chr2	184023093	184023093	+	Frame_Shift_Del	DEL	T	T	-																															cttaagcaaagatgggaggaTttttggagaatccatcatga																								rs201358343		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:184023093delT	ENST00000295119.4	+	7	795	c.692delT	c.(691-693)attfs	p.I231fs	NUP35_ENST00000541912.1_Frame_Shift_Del_p.I96fs|NUP35_ENST00000409798.1_Frame_Shift_Del_p.I214fs	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	231	RRM Nup35-type. {ECO:0000255|PROSITE- ProRule:PRU00804}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GATGGGAGGATTTTTGGAGAA	0.363																																																	0													96	94	95					2																	184023093		2203	4300	6503	SO:0001589	frameshift_variant	0			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.692delT	2.37:g.184023093delT	ENSP00000295119:p.Ile231fs		B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Frame_Shift_Del	DEL	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	p.F232fs	ENST00000295119.4	37	c.692	CCDS2290.1	2																																																																																			NUP35	-	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	ENSG00000163002		0.363	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP35	HGNC	protein_coding	OTTHUMT00000255865.1		0	32	0	T	NM_138285		184023093	1	tier1		no_errors	ENST00000295119	ensembl	human	known	74_37	frame_shift_del	13.48	77	12	DEL	1.000	-	-	184023093	T	-	184023093	7	5	52	1	0	1	0	1	0	0	0	0	10802	1493	52	0	718	0	NUP35	2	184023093	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	4439014	184023093	59176280	141	12481											
NUP35	129401	genome.wustl.edu	37	chr2	184025805	184025805	+	Frame_Shift_Del	DEL	A	A	-																															atttctgacagacaaacgccAaaaaaagatgaaagtcttgt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:184025805delA	ENST00000295119.4	+	9	1030	c.927delA	c.(925-927)ccafs	p.P309fs	NUP35_ENST00000541912.1_Frame_Shift_Del_p.P174fs|NUP35_ENST00000409798.1_Frame_Shift_Del_p.P292fs	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	309					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						GACAAACGCCAAAAAAAGATG	0.363																																																	0													81	76	77					2																	184025805		2203	4300	6503	SO:0001589	frameshift_variant	0			AF514993	CCDS2290.1, CCDS74614.1	2q32	2008-02-05			ENSG00000163002	ENSG00000163002			29797	protein-coding gene	gene with protein product		608140					Standard	XM_005246284		Approved	MP44	uc002upf.3	Q8NFH5	OTTHUMG00000132621	ENST00000295119.4:c.927delA	2.37:g.184025805delA	ENSP00000295119:p.Pro309fs		B4DP57|B4DYB4|Q4ZFZ9|Q53S95|Q8TDJ1	Frame_Shift_Del	DEL	pfam_RRM_NUP35_dom,pirsf_Nucleoporin_NUP53	p.D312fs	ENST00000295119.4	37	c.927	CCDS2290.1	2																																																																																			NUP35	-	pirsf_Nucleoporin_NUP53	ENSG00000163002		0.363	NUP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP35	HGNC	protein_coding	OTTHUMT00000255865.1		0	19	0	A	NM_138285		184025805	1	tier1		no_errors	ENST00000295119	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	0.996	-	-	184025805	A	-	184025805	7	5	52	1	0	1	0	1	0	0	0	0	10802	117	5	0	961	0	NUP35	2	184025805	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	2712	184025805	59173568	142	12482											
FSIP2	401024	genome.wustl.edu	37	chr2	186671157	186671157	+	Frame_Shift_Del	DEL	C	C	-																															aaactcagttatgaccaaagCcccccaggtgataatgtatt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:186671157delC	ENST00000424728.1	+	17	17124	c.17124delC	c.(17122-17124)agcfs	p.S5708fs	FSIP2_ENST00000343098.5_Frame_Shift_Del_p.S5797fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5708										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATGACCAAAGCCCCCCAGGTG	0.333																																																	0													91	86	88					2																	186671157		1810	4073	5883	SO:0001589	frameshift_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.17124delC	2.37:g.186671157delC	ENSP00000401306:p.Ser5708fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Del	DEL	NULL	p.P5799fs	ENST00000424728.1	37	c.17391		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.333	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0	43	0	C	NM_173651		186671157	1	tier1		no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_del	41.18	30	21	DEL	0.000	-	-	186671157	C	-	186671157	7	5	52	1	0	1	0	1	0	0	0	0	6099	738	26	0	17457	0	FSIP2	2	186671157	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	2645352	186671157	56528216	143	12483											
ITGAV	3685	genome.wustl.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-																															caagaacatgactatttcaaGggggggactgatgcagtgtg																								rs567294324		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)												0													249	235	239					2																	187521085		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G561fs	ENST00000261023.3	37	c.1676	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2		0	20	0	G	NM_002210		187521085	1	tier1		no_errors	ENST00000261023	ensembl	human	known	74_37	frame_shift_del	29.03	22	9	DEL	0.609	-	-	187521085	G	-	187521085	7	5	52	1	0	1	0	1	0	0	0	0	7915	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	849928	187521085	55678288	144	12484											
CCDC150	284992	genome.wustl.edu	37	chr2	197531519	197531519	+	Frame_Shift_Del	DEL	A	A	-																															agaactactggcccaggaacAaaaaaaaaaagaagagttgg																								rs75642251|rs376590781		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:197531519delA	ENST00000389175.4	+	7	974	c.839delA	c.(838-840)caafs	p.Q280fs	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	280										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCCAGGAACAAAAAAAAAAA	0.373																																																	0										178,205,3109		1,0,176,1,203,1365	43	43	43			4.6	0.7	2		34	430,361,7013		2,0,426,2,357,3115	no	codingComplex	CCDC150	NM_001080539.1		3,0,602,3,560,4480	A1A1,A1A2,A1R,A2A2,A2R,RR		10.1358,10.9679,10.3931			197531519	608,566,10122	1807	4072	5879	SO:0001589	frameshift_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.839delA	2.37:g.197531519delA	ENSP00000373827:p.Gln280fs		Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Del	DEL	NULL	p.K283fs	ENST00000389175.4	37	c.839	CCDS46478.1	2																																																																																			CCDC150	-	NULL	ENSG00000144395		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2		0	31	0	A	NM_001080539		197531519	1	tier1		no_errors	ENST00000389175	ensembl	human	known	74_37	frame_shift_del	55.32	21	26	DEL	0.374	-	-	197531519	A	-	197531519	7	5	52	1	0	1	0	1	0	0	0	0	2792	130	5	0	865	0	CCDC150	2	197531519	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	10010434	197531519	45667854	145	12485											
GTF3C3	9330	genome.wustl.edu	37	chr2	197653994	197653994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacaaaaggtttaaaataCgcctataaccatccatggcc	16	8	7	10	1	0	1	0	0	0	1	1	2	1	1	4	2	2	1	4	2	7	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:197653994C>T	ENST00000263956.3	-	6	916	c.827G>A	c.(826-828)cGt>cAt	p.R276H	GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Missense_Mutation_p.R276H	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	276					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTTTAAAATACGCCTATAACC	0.413																																																	0													122	110	114					2																	197653994		2203	4300	6503	SO:0001583	missense	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.827G>A	2.37:g.197653994C>T	ENSP00000263956:p.Arg276His		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R276H	ENST00000263956.3	37	c.827	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606021	0.66445	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.60797	0.16;0.16	4.87	4.87	0.63330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.060552	0.64402	D	0.000013	T	0.65396	0.2687	L	0.38175	1.15	0.53005	D	0.999968	P;D	0.71674	0.656;0.998	B;P	0.59595	0.122;0.86	T	0.68743	-0.5328	10	0.66056	D	0.02	-15.3393	18.1981	0.89829	0.0:1.0:0.0:0.0	.	276;276	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	H	276	ENSP00000263956:R276H;ENSP00000386465:R276H	ENSP00000263956:R276H	R	-	2	0	GTF3C3	197362239	1.000000	0.71417	0.978000	0.43139	0.868000	0.49771	4.668000	0.61568	2.536000	0.85505	0.591000	0.81541	CGT	GTF3C3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000119041		0.413	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	-	0	45	0	C			197653994	-1	tier1	-	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	T	T	197653994	C	T	197653994	3	4	52	1	0	0	0	0	1	0	0	0	6901	536	19	1	1885	1	GTF3C3	2	197653994	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	122475	197653994	45545379	146	12486											
ERBB4	2066	genome.wustl.edu	37	chr2	212248355	212248355	+	Frame_Shift_Del	DEL	C	C	-																															tgagcttacaccacagtattCcggtgtctgtaaggtggagg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:212248355delC	ENST00000342788.4	-	28	4222	c.3912delG	c.(3910-3912)cggfs	p.R1304fs	ERBB4_ENST00000402597.1_Frame_Shift_Del_p.R1294fs|ERBB4_ENST00000436443.1_Frame_Shift_Del_p.R1288fs	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1304					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCACAGTATTCCGGTGTCTGT	0.537										TSP Lung(8;0.080)																																							0													60	64	62					2																	212248355		2203	4300	6503	SO:0001589	frameshift_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3912delG	2.37:g.212248355delC	ENSP00000342235:p.Arg1304fs		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N1305fs	ENST00000342788.4	37	c.3912	CCDS2394.1	2																																																																																			ERBB4	-	NULL	ENSG00000178568		0.537	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0	32	0	C	NM_001042599		212248355	-1	tier1		no_errors	ENST00000342788	ensembl	human	known	74_37	frame_shift_del	19.05	34	8	DEL	0.999	-	-	212248355	C	-	212248355	7	5	52	1	0	1	0	1	0	0	0	0	5225	842	30	0	18	0	ERBB4	2	212248355	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	14594361	212248355	30951018	147	12487											
MARCH4	57574	genome.wustl.edu	37	chr2	217234779	217234779	+	Frame_Shift_Del	DEL	G	G	-																															ggccgccaaaccggggggctGggggtcgccgtgcatgggca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:217234779delG	ENST00000273067.4	-	1	1971	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	69	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701																																																	0													4	5	5					2																	217234779		2099	4083	6182	SO:0001589	frameshift_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.205delC	2.37:g.217234779delG	ENSP00000273067:p.Gln69fs		Q4KMN7|Q86WR8	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.Q69fs	ENST00000273067.4	37	c.205	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.701	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2		0	18	0	G	NM_020814		217234779	-1	tier1		no_errors	ENST00000273067	ensembl	human	known	74_37	frame_shift_del	48.48	17	16	DEL	1.000	-	-	217234779	G	-	217234779	7	5	52	1	0	1	0	1	0	0	0	0	9341	1357	47	0	1043	0	MARCH4	2	217234779	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	4986424	217234779	25964594	148	12488											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217300166	217300168	+	In_Frame_Del	DEL	CTT	CTT	-																															tcaacattgtcagctttgacCttcttagcaagttggaaaaa																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:217300166_217300168delCTT	ENST00000357276.4	+	9	1921_1923	c.1591_1593delCTT	c.(1591-1593)cttdel	p.L532del	SMARCAL1_ENST00000358207.5_In_Frame_Del_p.L532del	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	532	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CAGCTTTGACCTTCTTAGCAAGT	0.448									Schimke Immuno-Osseous Dysplasia																																								0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1591_1593delCTT	2.37:g.217300169_217300171delCTT	ENSP00000349823:p.Leu532del		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	In_Frame_Del	DEL	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L532in_frame_del	ENST00000357276.4	37	c.1591_1593	CCDS2403.1	2																																																																																			SMARCAL1	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000138375		0.448	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2		0	47	0	CTT			217300168	1	tier1		no_errors	ENST00000357276	ensembl	human	known	74_37	in_frame_del	36.36	42	24	DEL	1.000:1.000:0.972	-	-	217300168	CTT	-	217300166	7	5	52	1	0	1	0	1	0	0	0	0	14818	681	24	0	1617	0	SMARCAL1	2	217300166	In_Frame_Del	DEL	CTT	TCGA-L5-A43J-01A-12D-A247-09	65387	217300166	25899207	149	12489											
CXCR2	3579	genome.wustl.edu	37	chr2	219000454	219000454	+	Frame_Shift_Del	DEL	C	C	-																															atccttcacagctgcctcaaCcccctcatctacgccttcat																								rs544347825		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219000454delC	ENST00000318507.2	+	3	1357	c.930delC	c.(928-930)aacfs	p.N310fs		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	310					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCTGCCTCAACCCCCTCATCT	0.557																																																	0													94	91	92					2																	219000454		2203	4300	6503	SO:0001589	frameshift_variant	0			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.930delC	2.37:g.219000454delC	ENSP00000319635:p.Asn310fs		Q8IUZ1|Q9P2T6|Q9P2T7	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.L312fs	ENST00000318507.2	37	c.930	CCDS2408.1	2																																																																																			CXCR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180871		0.557	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2		0	29	0	C	NM_001557		219000454	1	tier1		no_errors	ENST00000318507	ensembl	human	known	74_37	frame_shift_del	41.27	37	26	DEL	1.000	-	-	219000454	C	-	219000454	7	5	52	1	0	1	0	1	0	0	0	0	4100	506	18	0	932	0	CXCR2	2	219000454	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	1700288	219000454	24198919	150	12490											
PNKD	25953	genome.wustl.edu	37	chr2	219135295	219135296	+	Frame_Shift_Ins	INS	-	-	G																															tgctacggcgctgaagggccINSggggggcgagaaatgcccgc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219135295_219135296insG	ENST00000273077.4	+	1	88_89	c.37_38insG	c.(37-39)cggfs	p.R13fs	AAMP_ENST00000444053.1_5'Flank|PNKD_ENST00000248451.3_Frame_Shift_Ins_p.R13fs|AAMP_ENST00000420660.1_5'Flank|AAMP_ENST00000248450.4_5'Flank	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	13					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGAAGGGCCGGGGGGCGAGA	0.653																																																	0																																										SO:0001589	frameshift_variant	0				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"myofibrillogenesis regulator 1"	609023	"paroxysmal nonkinesiogenic dyskinesia"			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.43dupG	2.37:g.219135301_219135301dupG	ENSP00000273077:p.Arg13fs		A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Frame_Shift_Ins	INS	pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase	p.A15fs	ENST00000273077.4	37	c.37_38	CCDS2411.1	2																																																																																			PNKD	-	NULL	ENSG00000127838		0.653	PNKD-001	KNOWN	basic|CCDS	protein_coding	PNKD	HGNC	protein_coding	OTTHUMT00000256775.2		0	10	0	-			219135296	1	tier1		no_errors	ENST00000273077	ensembl	human	known	74_37	frame_shift_ins	25.00	27	9	INS	1.000:1.000	G	G	219135296	-	G	219135295	7	5	52	1	0	1	1	0	0	0	0	0	12185	643	23	0	39	0	PNKD	2	219135295	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	134841	219135295	24064078	151	12491											
C2orf62	375307	genome.wustl.edu	37	chr2	219222406	219222406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactgcctcttcgtgcatGcctctagccgaggcttcttg	5	13	9	14	2	3	0	0	0	3	0	4	1	3	0	3	1	5	2	3	1	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219222406G>A	ENST00000289388.3	+	3	297	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CATIP_HUMAN		90					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCGTGCATGCCTCTAGCCG	0.567																																																	0													76	71	73					2																	219222406		2203	4300	6503	SO:0001583	missense	0																														ENST00000289388.3:c.268G>A	2.37:g.219222406G>A	ENSP00000289388:p.Ala90Thr			Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.A90T	ENST00000289388.3	37	c.268	CCDS2414.1	2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001228	0.54254	.	.	ENSG00000158428	ENST00000289388	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.75264	2.295	0.45403	D	0.99838	D	0.89917	1.0	D	0.87578	0.998	T	0.77146	-0.2695	9	0.44086	T	0.13	-3.0224	13.383	0.60780	0.0:0.0:1.0:0.0	.	90	Q7Z7H3	CB062_HUMAN	T	90	.	ENSP00000289388:A90T	A	+	1	0	C2orf62	218930650	0.991000	0.36638	0.972000	0.41901	0.019000	0.09904	4.790000	0.62453	2.536000	0.85505	0.563000	0.77884	GCC	C2orf62	-	NULL	ENSG00000158428		0.567	C2orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf62	HGNC	protein_coding	OTTHUMT00000256771.1	-	0	55	0	G			219222406	1	tier1	-	no_errors	ENST00000289388	ensembl	human	known	74_37	missense	25.00	42	14	SNP	0.982	A	A	219222406	G	A	219222406	3	1	52	1	0	0	0	0	1	0	0	0	2188	1319	46	3	278	3	C2orf62	2	219222406	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	87111	219222406	23976967	152	12492											
CYP27A1	1593	genome.wustl.edu	37	chr2	219674399	219674399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcttggagcaagtgatgCggcaagagggcaagtaccca	11	6	14	10	2	1	2	0	1	1	1	1	3	1	3	1	3	3	5	1	3	4	2	rs369294392|rs587778793		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:219674399C>T	ENST00000258415.4	+	2	782	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	119					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GCAAGTGATGCGGCAAGAGGG	0.587													C|||	1	0.000199681	0	0	5008	,	,		18140	0		0	False		,,,				2504	0.001																0			GRCh37	CD941659	CYP27A1	D		C	TRP/ARG	0,4406		0,0,2203	144	124	131		355	3.6	1	2		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP27A1	NM_000784.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	119/532	219674399	1,13005	2203	4300	6503	SO:0001583	missense	0			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.355C>T	2.37:g.219674399C>T	ENSP00000258415:p.Arg119Trp		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R119W	ENST00000258415.4	37	c.355	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083515	0.76642	0.0	1.16E-4	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.69175	-0.38;-0.38	5.67	3.62	0.41486	.	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.88181	2.935	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	D	0.87250	0.2272	10	0.87932	D	0	-36.1956	14.2688	0.66138	0.3746:0.6254:0.0:0.0	.	119	Q02318	CP27A_HUMAN	W	119;25	ENSP00000258415:R119W;ENSP00000392671:R25W	ENSP00000258415:R119W	R	+	1	2	CYP27A1	219382643	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.443000	0.21644	1.339000	0.45563	0.655000	0.94253	CGG	CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000135929		0.587	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	-	0	30	0	C			219674399	1	tier1	-	no_errors	ENST00000258415	ensembl	human	known	74_37	missense	36.99	46	27	SNP	1.000	T	T	219674399	C	T	219674399	3	4	52	1	0	0	0	0	1	0	0	0	4167	759	27	1	361	1	CYP27A1	2	219674399	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	451993	219674399	23524974	153	12493											
SPEG	10290	genome.wustl.edu	37	chr2	220333698	220333698	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgcggtcagtgctgttaAcacccatggccaggcccact	8	9	10	14	1	1	0	1	0	0	0	1	0	1	0	3	3	3	2	3	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:220333698A>T	ENST00000312358.7	+	12	3551	c.3419A>T	c.(3418-3420)aAc>aTc	p.N1140I	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1140	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGTGCTGTTAACACCCATGGC	0.642																																																	0													44	55	51					2																	220333698		2079	4201	6280	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3419A>T	2.37:g.220333698A>T	ENSP00000311684:p.Asn1140Ile		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.N1140I	ENST00000312358.7	37	c.3419	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435329	0.25813	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	D	0.81579	-1.51	4.77	3.6	0.41247	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45361	D	0.000361	D	0.91277	0.7250	H	0.98664	4.295	0.80722	D	1	D	0.52996	0.957	P	0.55055	0.767	D	0.92409	0.5936	10	0.87932	D	0	.	10.8573	0.46806	0.8587:0.0:0.0:0.1413	.	1140	Q15772	SPEG_HUMAN	I	1140	ENSP00000311684:N1140I	ENSP00000265327:N1140I	N	+	2	0	SPEG	220041942	1.000000	0.71417	0.312000	0.25196	0.064000	0.16182	7.206000	0.77891	0.845000	0.35118	0.533000	0.62120	AAC	SPEG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000072195		0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0	45	0	A	NM_005876		220333698	1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	missense	38.82	52	33	SNP	0.976	T	T	220333698	A	T	220333698	3	4	52	1	0	0	0	0	1	0	0	0	15083	43	2	5	3477	5	SPEG	2	220333698	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	659299	220333698	22865675	154	12494											
IRS1	3667	genome.wustl.edu	37	chr2	227661663	227661664	+	Frame_Shift_Ins	INS	-	-	C																															gagctgtctgggcggtggtgINSccccccccgacgctccaagg																								rs552502879		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:227661663_227661664insC	ENST00000305123.5	-	1	2811_2812	c.1791_1792insG	c.(1789-1794)gggcacfs	p.H598fs	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	598					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.H598fs*13(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGCGGTGGTGCCCCCCCCGAC	0.683											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.1792dupG	2.37:g.227661671_227661671dupC	ENSP00000304895:p.His598fs	2321		Frame_Shift_Ins	INS	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.H597fs	ENST00000305123.5	37	c.1792_1791	CCDS2463.1	2																																																																																			IRS1	-	NULL	ENSG00000169047		0.683	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3		0	84	0	-	NM_005544		227661664	-1	tier1		no_errors	ENST00000305123	ensembl	human	known	74_37	frame_shift_ins	30.22	97	42	INS	1.000:0.995	C	C	227661664	-	C	227661663	7	5	52	1	0	1	1	0	0	0	0	0	7867	1319	46	0	1940	0	IRS1	2	227661663	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	7327965	227661663	15537710	155	12495											
COL4A3	1285	genome.wustl.edu	37	chr2	228131180	228131180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagatcacggactgccaGgctatctagggtctccagga	9	8	13	11	1	3	1	1	0	2	1	4	4	3	3	2	5	1	1	2	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:228131180G>T	ENST00000396578.3	+	22	1525	c.1363G>T	c.(1363-1365)Ggc>Tgc	p.G455C	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	455	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CGGACTGCCAGGCTATCTAGG	0.398																																																	0													72	70	70					2																	228131180		1850	4094	5944	SO:0001583	missense	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1363G>T	2.37:g.228131180G>T	ENSP00000379823:p.Gly455Cys		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G455C	ENST00000396578.3	37	c.1363	CCDS42829.1	2	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117168	0.56505	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99637	-6.29	5.69	5.69	0.88448	.	0.000000	0.56097	D	0.000025	D	0.99799	0.9914	H	0.98256	4.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97042	0.9758	10	0.87932	D	0	.	15.3121	0.74042	0.0:0.0:1.0:0.0	.	455;455;455;455	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	C	455	ENSP00000379823:G455C	ENSP00000323334:G455C	G	+	1	0	COL4A3	227839424	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	5.383000	0.66219	2.685000	0.91497	0.655000	0.94253	GGC	COL4A3	-	pfam_Collagen	ENSG00000169031		0.398	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0	44	0	G	NM_000091		228131180	1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	missense	42.62	35	26	SNP	1.000	T	T	228131180	G	T	228131180	3	4	52	1	0	0	0	0	1	0	0	0	3698	1000	35	3	1449	3	COL4A3	2	228131180	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	469517	228131180	15068193	156	12496											
SPHKAP	80309	genome.wustl.edu	37	chr2	228884465	228884465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgtcttcatggtctcCtgggtttaggttgcttctct	2	20	10	9	0	5	0	1	0	4	0	7	0	5	0	1	3	1	3	1	3	1	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:228884465C>T	ENST00000392056.3	-	7	1151	c.1105G>A	c.(1105-1107)Gga>Aga	p.G369R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G369R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	369						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATGGTCTCCTGGGTTTAGG	0.458																																																	0													153	134	140					2																	228884465		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1105G>A	2.37:g.228884465C>T	ENSP00000375909:p.Gly369Arg		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.G369R	ENST00000392056.3	37	c.1105	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	0.966	-0.701715	0.03255	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11277	2.79;2.79	5.65	3.01	0.34805	.	0.325774	0.31909	N	0.006873	T	0.11324	0.0276	M	0.63428	1.95	0.09310	N	1	B;B	0.20887	0.049;0.029	B;B	0.21546	0.018;0.035	T	0.24870	-1.0148	10	0.20046	T	0.44	.	9.0865	0.36584	0.0:0.6891:0.0:0.3109	.	369;369	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	R	369	ENSP00000375909:G369R;ENSP00000339886:G369R	ENSP00000339886:G369R	G	-	1	0	SPHKAP	228592709	0.032000	0.19561	0.009000	0.14445	0.019000	0.09904	1.223000	0.32527	1.045000	0.40225	0.561000	0.74099	GGA	SPHKAP	-	NULL	ENSG00000153820		0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	62	0	C	NM_030623		228884465	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	33.96	70	36	SNP	0.001	T	T	228884465	C	T	228884465	3	4	52	1	0	0	0	0	1	0	0	0	15095	690	24	3	4021	3	SPHKAP	2	228884465	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	753285	228884465	14314908	157	12497											
PSMD1	5707	genome.wustl.edu	37	chr2	231931656	231931656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaccaaacaatgtgtggAaaatgcagatttgcctgaag	15	9	9	8	0	0	2	0	1	0	1	0	3	0	3	2	1	4	1	2	1	6	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:231931656A>G	ENST00000308696.6	+	5	503	c.341A>G	c.(340-342)gAa>gGa	p.E114G	PSMD1_ENST00000409643.1_Missense_Mutation_p.E114G|PSMD1_ENST00000373635.4_Missense_Mutation_p.E114G	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CAATGTGTGGAAAATGCAGAT	0.358																																																	0													60	52	55					2																	231931656		2203	4300	6503	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.341A>G	2.37:g.231931656A>G	ENSP00000309474:p.Glu114Gly		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.E114G	ENST00000308696.6	37	c.341	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461880	0.84425	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	T;T;T	0.46451	0.87;0.87;0.87	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.38214	0.1032	L	0.52126	1.63	0.80722	D	1	B;B	0.31485	0.215;0.325	B;B	0.26416	0.065;0.069	T	0.18903	-1.0322	10	0.38643	T	0.18	-17.0996	15.5874	0.76495	1.0:0.0:0.0:0.0	.	114;114	Q99460;Q99460-2	PSMD1_HUMAN;.	G	114;114;120;114	ENSP00000309474:E114G;ENSP00000362738:E114G;ENSP00000386932:E114G	ENSP00000309474:E114G	E	+	2	0	PSMD1	231639900	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.073000	0.62155	0.482000	0.46254	GAA	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.358	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	-	0	24	0	A			231931656	1	tier1	-	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	G	G	231931656	A	G	231931656	3	3	52	1	0	0	0	0	1	0	0	0	12734	246	9	4	359	4	PSMD1	2	231931656	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3047191	231931656	11267717	158	12498											
NCL	4691	genome.wustl.edu	37	chr2	232326393	232326393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgtcctcgtcatcctcCtcatcctcctcactgtcatc	4	14	3	20	2	4	0	4	0	0	0	13	0	10	0	6	0	0	0	6	0	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:232326393C>G	ENST00000322723.4	-	3	711	c.471G>C	c.(469-471)gaG>gaC	p.E157D	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	157	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		cgtcatcctcctcatcctcct	0.537																																																	0													488	294	360					2																	232326393		2203	4300	6503	SO:0001583	missense	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.471G>C	2.37:g.232326393C>G	ENSP00000318195:p.Glu157Asp		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.E157D	ENST00000322723.4	37	c.471	CCDS33397.1	2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.596733	0.00857	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.33216	1.96;3.94;3.94;1.86;1.42	3.89	-7.78	0.01223	.	0.727055	0.14018	N	0.347012	T	0.08044	0.0201	N	0.03154	-0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14309	-1.0477	10	0.06757	T	0.87	-1.1025	6.7074	0.23258	0.1362:0.4359:0.348:0.0799	.	157	P19338	NUCL_HUMAN	D	157;99;157;141;141;141;141	ENSP00000318195:E157D;ENSP00000401620:E141D;ENSP00000392747:E141D;ENSP00000413775:E141D;ENSP00000401322:E141D	ENSP00000318195:E157D	E	-	3	2	NCL	232034637	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.019000	0.00159	-3.214000	0.00213	-1.571000	0.00872	GAG	NCL	-	NULL	ENSG00000115053		0.537	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1		0	173	0	C	NM_005381		232326393	-1			no_errors	ENST00000322723	ensembl	human	known	74_37	missense	11.42	224	29	SNP	0.001	G	G	232326393	C	G	232326393	3	3	52	1	0	0	0	0	1	0	0	0	10265	680	24	5	1709	5	NCL	2	232326393	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	394737	232326393	10872980	159	12499											
ALPP	250	genome.wustl.edu	37	chr2	233245388	233245388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccgagactccacactggaCccctccctgatggagatgac	10	6	9	16	1	0	4	0	2	0	2	2	7	2	5	5	2	0	0	5	2	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:233245388C>T	ENST00000392027.2	+	8	1190	c.921C>T	c.(919-921)gaC>gaT	p.D307D	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	307					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCACACTGGACCCCTCCCTGA	0.637																																																	0													51	62	58					2																	233245388		2203	4296	6499	SO:0001819	synonymous_variant	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.921C>T	2.37:g.233245388C>T			P05188|P06861|Q53S78|Q96DB7	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.D307	ENST00000392027.2	37	c.921	CCDS2490.1	2																																																																																			ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.637	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	-	0	77	0	C	NM_001632		233245388	1	tier1	-	no_errors	ENST00000392027	ensembl	human	known	74_37	silent	19.08	106	25	SNP	0.994	T	T	233245388	C	T	233245388	2	4	52	1	0	0	0	0	0	0	0	1	548	506	18	3		3	ALPP	2	233245388	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	918995	233245388	9953985	160	12500											
CHRND	1144	genome.wustl.edu	37	chr2	233393037	233393037	+	Frame_Shift_Del	DEL	C	C	-																															aacatcagtgtcctgcgcctCcccccggacatggtgtggct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:233393037delC	ENST00000258385.3	+	4	341	c.309delC	c.(307-309)ctcfs	p.L103fs	CHRND_ENST00000536614.1_Frame_Shift_Del_p.L103fs|CHRND_ENST00000457943.2_Frame_Shift_Del_p.S13fs|CHRND_ENST00000543200.1_Frame_Shift_Del_p.L88fs	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	103					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	TCCTGCGCCTCCCCCCGGACA	0.567																																																	0													118	115	116					2																	233393037		2203	4300	6503	SO:0001589	frameshift_variant	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.309delC	2.37:g.233393037delC	ENSP00000258385:p.Leu103fs		A8K661|B4DT92|Q52LH4	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P105fs	ENST00000258385.3	37	c.309	CCDS2494.1	2																																																																																			CHRND	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000135902		0.567	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2		0	20	0	C			233393037	1	tier1		no_errors	ENST00000258385	ensembl	human	known	74_37	frame_shift_del	25.00	39	13	DEL	1.000	-	-	233393037	C	-	233393037	7	5	52	1	0	1	0	1	0	0	0	0	3401	842	30	0	323	0	CHRND	2	233393037	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	147649	233393037	9806336	161	12501											
IQCA1	79781	genome.wustl.edu	37	chr2	237240170	237240170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaagccgtcagtgaccttCgccaggcagctgacattcaa	10	8	11	12	2	2	3	2	3	0	0	3	3	2	3	3	1	2	2	3	1	2	2	rs377472762		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:237240170C>T	ENST00000409907.3	-	18	2479	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	IQCA1_ENST00000431676.2_Silent_p.A694A|IQCA1_ENST00000309507.5_Silent_p.A732A	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	735							ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CAGTGACCTTCGCCAGGCAGC	0.488																																																	0								C		0,4064		0,0,2032	88	87	87		2205	-10.5	0	2		87	1,8349		0,1,4174	no	coding-synonymous	IQCA1	NM_024726.3		0,1,6206	TT,TC,CC		0.012,0.0,0.0081		735/823	237240170	1,12413	2032	4175	6207	SO:0001819	synonymous_variant	0			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"ATPases / AAA-type"	26195	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 11"		"IQ motif containing with AAA domain"	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.2205G>A	2.37:g.237240170C>T			B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Silent	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.A735	ENST00000409907.3	37	c.2205	CCDS46549.1	2																																																																																			IQCA1	-	superfamily_P-loop_NTPase	ENSG00000132321		0.488	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	-	0	33	0	C	NM_024726		237240170	-1	tier1	-	no_errors	ENST00000409907	ensembl	human	known	74_37	silent	32.76	39	19	SNP	0.000	T	T	237240170	C	T	237240170	2	4	52	1	0	0	0	0	0	0	0	1	7829	871	31	1		1	IQCA1	2	237240170	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3847133	237240170	5959203	162	12502											
KLHL30	377007	genome.wustl.edu	37	chr2	239049639	239049639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggacgtggagcccGccgtggtgggacaactggtg	6	6	19	10	4	0	0	0	0	0	0	0	3	0	3	2	5	4	1	2	5	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:239049639G>A	ENST00000409223.1	+	2	351	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A64T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CGTGGAGCCCGCCGTGGTGGG	0.672																																																	0													93	109	103					2																	239049639		2177	4254	6431	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.244G>A	2.37:g.239049639G>A	ENSP00000386389:p.Ala82Thr		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A82T	ENST00000409223.1	37	c.244	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	14.49	2.552453	0.45487	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.66995	-0.24;-0.24	5.75	4.86	0.63082	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.174508	0.50627	D	0.000111	T	0.52948	0.1766	N	0.25332	0.735	0.09310	N	1	P	0.50443	0.935	P	0.44422	0.449	T	0.47355	-0.9124	10	0.09338	T	0.73	.	14.1721	0.65517	0.0749:0.0:0.9251:0.0	.	82	Q0D2K2	KLH30_HUMAN	T	82;64	ENSP00000386389:A82T;ENSP00000302386:A64T	ENSP00000302386:A64T	A	+	1	0	KLHL30	238714378	0.011000	0.17503	0.232000	0.24009	0.206000	0.24218	1.786000	0.38694	2.720000	0.93068	0.655000	0.94253	GCC	KLHL30	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000168427		0.672	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0	39	0	G	NM_198582		239049639	1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	48.21	28	27	SNP	0.076	A	A	239049639	G	A	239049639	3	1	52	1	0	0	0	0	1	0	0	0	8411	1087	38	1	246	1	KLHL30	2	239049639	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1809469	239049639	4149734	163	12503											
HDAC4	9759	genome.wustl.edu	37	chr2	240002800	240002800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggctcacctgaaggccGccaagtactcagcgtctccc	8	6	12	15	2	3	1	2	1	1	0	4	2	3	2	4	3	2	2	4	3	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:240002800G>A	ENST00000345617.3	-	22	3517	c.2726C>T	c.(2725-2727)gCg>gTg	p.A909V	HDAC4_ENST00000543185.1_Missense_Mutation_p.A493V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	909	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTGAAGGCCGCCAAGTACTC	0.597																																																	0													31	37	35					2																	240002800		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2726C>T	2.37:g.240002800G>A	ENSP00000264606:p.Ala909Val		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.A909V	ENST00000345617.3	37	c.2726	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	g	18.49	3.635417	0.67130	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185	T;T	0.71103	-0.54;-0.54	3.78	2.89	0.33648	Histone deacetylase domain (2);	0.117223	0.64402	D	0.000020	D	0.83376	0.5241	M	0.90369	3.11	0.51233	D	0.999917	D;D	0.76494	0.999;0.996	P;P	0.61592	0.891;0.754	D	0.85083	0.0947	10	0.66056	D	0.02	.	11.0832	0.48072	0.0925:0.0:0.9075:0.0	.	877;909	Q53SM2;P56524	.;HDAC4_HUMAN	V	909;797;493	ENSP00000264606:A909V;ENSP00000440481:A493V	ENSP00000264606:A909V	A	-	2	0	HDAC4	239667737	1.000000	0.71417	0.041000	0.18516	0.438000	0.31896	9.313000	0.96297	0.729000	0.32403	0.450000	0.29827	GCG	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.597	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	34	0	G	NM_006037		240002800	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.955	A	A	240002800	G	A	240002800	3	1	52	1	0	0	0	0	1	0	0	0	7036	1087	38	1	552	1	HDAC4	2	240002800	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	953161	240002800	3196573	164	12504											
MTERFD2	130916	genome.wustl.edu	37	chr2	242035595	242035595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagactcctcctcctcccGagccaggagcttcttaaaaa	10	9	6	16	1	2	1	1	0	1	1	6	3	6	2	5	1	2	1	5	1	3	2	rs376613445		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:242035595G>A	ENST00000391980.2	-	4	1022	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.R134W	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		322	Dimerization with NSUN4.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TCCTCCTCCCGAGCCAGGAGC	0.478																																																	0								G	TRP/ARG	0,4406		0,0,2203	146	122	131		964	5.5	1	2		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTERFD2	NM_182501.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	322/382	242035595	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000391980.2:c.964C>T	2.37:g.242035595G>A	ENSP00000375840:p.Arg322Trp		A8K6K0|Q9P0E0	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.R322W	ENST00000391980.2	37	c.964	CCDS2544.1	2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357118	0.82243	0.0	1.16E-4	ENSG00000122085	ENST00000391980;ENST00000406593;ENST00000439144	T;T;T	0.68181	2.26;-0.31;1.22	5.53	5.53	0.82687	.	0.074292	0.52532	D	0.000078	T	0.66066	0.2752	M	0.75777	2.31	0.80722	D	1	P	0.42456	0.78	B	0.31946	0.138	T	0.74272	-0.3719	10	0.87932	D	0	-0.4964	19.081	0.93182	0.0:0.0:1.0:0.0	.	322	Q7Z6M4	MTER2_HUMAN	W	322;134;175	ENSP00000375840:R322W;ENSP00000384998:R134W;ENSP00000414989:R175W	ENSP00000241527:R322W	R	-	1	2	MTERFD2	241684268	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	4.636000	0.61339	2.611000	0.88343	0.460000	0.39030	CGG	MTERFD2	-	NULL	ENSG00000122085		0.478	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323798.4	-	0	79	0	G			242035595	-1	tier1	-	no_errors	ENST00000241527	ensembl	human	known	74_37	missense	40.71	67	46	SNP	0.999	A	A	242035595	G	A	242035595	3	1	52	1	0	0	0	0	1	0	0	0	9958	1057	37	1	185	1	MTERFD2	2	242035595	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2032795	242035595	1163778	165	12505											
C2orf85	285093	genome.wustl.edu	37	chr2	242814375	242814375	+	Frame_Shift_Del	DEL	C	C	-																															gcccatcgctgagggccctgCcccccctgcgggggcctctc																								rs35989328		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr2:242814375delC	ENST00000343216.3	+	2	696	c.668delC	c.(667-669)gccfs	p.A223fs		NM_173821.2	NP_776182.2																					GAGGGCCCTGCCCCCCCTGCG	0.657																																																	0													23	26	25					2																	242814375		1939	4124	6063	SO:0001589	frameshift_variant	0																														ENST00000343216.3:c.668delC	2.37:g.242814375delC	ENSP00000345374:p.Ala223fs			Frame_Shift_Del	DEL	NULL	p.P225fs	ENST00000343216.3	37	c.668	CCDS42843.1	2																																																																																			CXXC11	-	NULL	ENSG00000188011		0.657	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1		0	34	0	C			242814375	1	tier1		no_errors	ENST00000343216	ensembl	human	known	74_37	frame_shift_del	41.79	39	28	DEL	0.000	-	-	242814375	C	-	242814375	7	5	52	1	0	1	0	1	0	0	0	0	2207	739	26	0	674	0	C2orf85	2	242814375	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	778780	242814375	384998	166	12506											
BRPF1	7862	genome.wustl.edu	37	chr3	9785476	9785476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacgtgatggccctgagcgGcatggcccctcgagccgggg	5	5	18	13	4	0	2	0	2	0	0	1	4	0	3	4	6	2	1	4	6	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:9785476G>A	ENST00000457855.1	+	7	2519	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	BRPF1_ENST00000302054.3_Silent_p.R836R|BRPF1_ENST00000424362.1_Silent_p.R835R|BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000433861.2_Silent_p.R836R|BRPF1_ENST00000383829.2_Silent_p.R842R			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	836	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCCCTGAGCGGCATGGCCCCT	0.637																																																	0													38	34	35					3																	9785476		2202	4300	6502	SO:0001819	synonymous_variant	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2508G>A	3.37:g.9785476G>A			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.R842	ENST00000457855.1	37	c.2526	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.637	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	-	0	38	0	G	NM_001003694		9785476	1	tier1	-	no_errors	ENST00000383829	ensembl	human	known	74_37	silent	25.40	47	16	SNP	1.000	A	A	9785476	G	A	9785476	2	1	52	1	0	0	0	0	0	0	0	1	1524	1190	42	3		3	BRPF1	3	9785476	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		9785476	188236954	167	12507											
FBLN2	2199	genome.wustl.edu	37	chr3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcttccgcattggccccGcgccagccttcacgggggac	6	8	11	16	4	2	0	1	0	1	0	3	1	3	1	5	3	1	1	5	3	1	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:13679189G>A	ENST00000295760.7	+	17	3394	c.3325G>A	c.(3325-3327)Gcg>Acg	p.A1109T	FBLN2_ENST00000492059.1_Missense_Mutation_p.A1156T|FBLN2_ENST00000535798.1_Missense_Mutation_p.A1135T|FBLN2_ENST00000404922.3_Missense_Mutation_p.A1156T	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1109	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622																																																	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)											43	48	46					3																	13679189		2154	4245	6399	SO:0001583	missense	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3325G>A	3.37:g.13679189G>A	ENSP00000295760:p.Ala1109Thr		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.A1156T	ENST00000295760.7	37	c.3466	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	G	12.47	1.946543	0.34377	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79554	-1.28;-1.24;-1.19;-1.24	4.6	2.63	0.31362	.	0.194173	0.46442	D	0.000286	T	0.44871	0.1314	N	0.01729	-0.75	0.35567	D	0.805155	B;P;P	0.48998	0.313;0.918;0.72	B;B;B	0.34138	0.058;0.176;0.131	T	0.54221	-0.8326	10	0.14656	T	0.56	.	5.867	0.18781	0.1026:0.0:0.5213:0.376	.	1109;1156;1135	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	T	1135;1156;1109;1156	ENSP00000445705:A1135T;ENSP00000384169:A1156T;ENSP00000295760:A1109T;ENSP00000420042:A1156T	ENSP00000295760:A1109T	A	+	1	0	FBLN2	13654190	0.993000	0.37304	0.747000	0.31113	0.616000	0.37450	3.099000	0.50267	1.157000	0.42530	0.462000	0.41574	GCG	FBLN2	-	NULL	ENSG00000163520		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	-	0	18	0	G	NM_001004019		13679189	1	tier1	-	no_errors	ENST00000404922	ensembl	human	known	74_37	missense	72.73	9	24	SNP	0.984	A	A	13679189	G	A	13679189	3	1	52	1	0	0	0	0	1	0	0	0	5721	1087	38	1	2222	1	FBLN2	3	13679189	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3893713	13679189	184343241	168	12508											
ANKRD28	23243	genome.wustl.edu	37	chr3	15765962	15765962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctgcatgaagaggtgtaTaagactttttatccttgcat	10	15	9	7	0	0	3	0	1	0	2	1	3	1	3	1	1	3	4	1	1	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:15765962T>C	ENST00000399451.2	-	7	987	c.620A>G	c.(619-621)tAt>tGt	p.Y207C	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.Y240C	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	207						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAGAGGTGTATAAGACTTTTT	0.363																																																	0													55	53	53					3																	15765962		1945	4146	6091	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	29024	protein-coding gene	gene with protein product	"phosphatase interactor targeting K protein", "protein phosphatase 6 ankyrin repeat subunit A", "protein phosphatase 1, regulatory subunit 65"	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.620A>G	3.37:g.15765962T>C	ENSP00000382379:p.Tyr207Cys		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y240C	ENST00000399451.2	37	c.719	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211257	0.79240	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15952	2.38;2.38;2.38	5.68	5.68	0.88126	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34077	0.0885	L	0.39245	1.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.996	T	0.02398	-1.1165	10	0.48119	T	0.1	.	15.9399	0.79745	0.0:0.0:0.0:1.0	.	240;237;207	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	C	207;240;207	ENSP00000382379:Y207C;ENSP00000373287:Y240C;ENSP00000397341:Y207C	ENSP00000373287:Y240C	Y	-	2	0	ANKRD28	15740966	1.000000	0.71417	0.341000	0.25589	0.706000	0.40770	7.997000	0.88414	2.164000	0.68074	0.528000	0.53228	TAT	ANKRD28	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.363	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	-	0	31	0	T	NM_015199		15765962	-1	tier1	-	no_errors	ENST00000383777	ensembl	human	known	74_37	missense	70.00	9	21	SNP	1.000	C	C	15765962	T	C	15765962	3	2	52	1	0	0	0	0	1	0	0	0	656	1406	49	4	2629	4	ANKRD28	3	15765962	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2086773	15765962	182256468	169	12509											
UBE2E1	7324	genome.wustl.edu	37	chr3	23848848	23848850	+	In_Frame_Del	DEL	AAG	AAG	-																															agaaagaaacaaacacccccAagaagaaggagagtaaagtc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:23848848_23848850delAAG	ENST00000306627.3	+	2	307_309	c.88_90delAAG	c.(88-90)aagdel	p.K32del	UBE2E1_ENST00000346855.3_In_Frame_Del_p.K32del|UBE2E1-AS1_ENST00000426702.1_RNA	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						AAACACCCCCAAGAAGAAGGAGA	0.498																																																	0									,	0,4266		0,0,2133					,	3.6	1			129	1,8253		0,1,4126	no	coding,coding	UBE2E1	NM_182666.2,NM_003341.4	,	0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12519				SO:0001651	inframe_deletion	0			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"Ubiquitin-conjugating enzymes E2"	12477	protein-coding gene	gene with protein product		602916	"ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.88_90delAAG	3.37:g.23848854_23848856delAAG	ENSP00000303709:p.Lys32del		B2RBX4|C9J8K2|K4DI90	In_Frame_Del	DEL	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K32in_frame_del	ENST00000306627.3	37	c.88_90	CCDS2638.1	3																																																																																			UBE2E1	-	NULL	ENSG00000170142		0.498	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2		0	50	0	AAG	NM_003341		23848850	1	tier1		no_errors	ENST00000306627	ensembl	human	known	74_37	in_frame_del	46.34	22	19	DEL	1.000:1.000:1.000	-	-	23848850	AAG	-	23848848	7	5	52	1	0	1	0	1	0	0	0	0	16901	131	5	0	90	0	UBE2E1	3	23848848	In_Frame_Del	DEL	AAG	TCGA-L5-A43J-01A-12D-A247-09	8082886	23848848	174173582	170	12510	46	2									
UBE2E1	7324	genome.wustl.edu	37	chr3	23848850	23848850	+	Missense_Mutation	SNP	G	G	C																															aaagaaacaaacacccccaaGaagaaggagagtaaagtcag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:23848850G>C	ENST00000306627.3	+	2	309	c.90G>C	c.(88-90)aaG>aaC	p.K30N	UBE2E1_ENST00000346855.3_Missense_Mutation_p.K30N|UBE2E1-AS1_ENST00000426702.1_RNA	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	30					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						ACACCCCCAAGAAGAAGGAGA	0.498																																																	0													130	134	133					3																	23848850		2203	4300	6503	SO:0001583	missense	0			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"Ubiquitin-conjugating enzymes E2"	12477	protein-coding gene	gene with protein product		602916	"ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.90G>C	3.37:g.23848850G>C	ENSP00000303709:p.Lys30Asn		B2RBX4|C9J8K2|K4DI90	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.K30N	ENST00000306627.3	37	c.90	CCDS2638.1	3	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813299	0.32053	.	.	ENSG00000170142	ENST00000306627;ENST00000346855;ENST00000442670	T;T;T	0.55760	0.5;1.39;0.5	4.49	3.61	0.41365	Ubiquitin-conjugating enzyme/RWD-like (1);	4.811140	0.00610	N	0.000416	T	0.45935	0.1367	N	0.19112	0.55	0.80722	D	1	B;B	0.25904	0.137;0.137	B;B	0.23716	0.016;0.048	T	0.08472	-1.0720	10	0.66056	D	0.02	.	13.1686	0.59585	0.0797:0.0:0.9203:0.0	.	30;30	C9J2P0;P51965	.;UB2E1_HUMAN	N	30	ENSP00000303709:K30N;ENSP00000329113:K30N;ENSP00000410652:K30N	ENSP00000303709:K30N	K	+	3	2	UBE2E1	23823854	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	5.616000	0.67709	1.190000	0.43042	0.561000	0.74099	AAG	UBE2E1	-	NULL	ENSG00000170142		0.498	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2		0	50	0	G	NM_003341		23848850	1			no_errors	ENST00000306627	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	C	C	23848850	G	C	23848850	3	2	52	1	0	0	0	0	1	0	0	0	16901	933	33	5	92	5	UBE2E1	3	23848850	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2	23848850	174173580	171	12511	46	2									
TGFBR2	7048	genome.wustl.edu	37	chr3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-																															tccaaagtgcattatgaaggAaaaaaaaaagcctggtgaga																								rs79375991		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)											89	92	91					3																	30691872		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0	38	0	A			30691872	1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	58.54	17	24	DEL	1.000	-	-	30691872	A	-	30691872	7	5	52	1	0	1	0	1	0	0	0	0	15869	246	9	0	463	0	TGFBR2	3	30691872	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	6843022	30691872	167330558	172	12512											
TRIM71	131405	genome.wustl.edu	37	chr3	32932582	32932582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgaccgcagcaacaaccGcatccaggtgttcaagccct	10	5	9	17	4	1	0	1	0	0	0	2	1	2	0	5	1	4	4	5	1	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:32932582G>C	ENST00000383763.5	+	4	1949	c.1886G>C	c.(1885-1887)cGc>cCc	p.R629P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	629					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAACAACCGCATCCAGGTG	0.642																																																	0													26	30	29					3																	32932582		2122	4233	6355	SO:0001583	missense	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1886G>C	3.37:g.32932582G>C	ENSP00000373272:p.Arg629Pro			Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R629P	ENST00000383763.5	37	c.1886	CCDS43060.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086450	0.76642	.	.	ENSG00000206557	ENST00000383763	T	0.79554	-1.28	5.83	5.83	0.93111	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94670	0.8281	H	0.99143	4.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96481	0.9356	10	0.72032	D	0.01	-35.7322	18.6812	0.91547	0.0:0.0:1.0:0.0	.	629	Q2Q1W2	LIN41_HUMAN	P	629	ENSP00000373272:R629P	ENSP00000373272:R629P	R	+	2	0	TRIM71	32907586	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.767000	0.95098	0.650000	0.86243	CGC	TRIM71	-	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	ENSG00000206557		0.642	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	-	0	8	0	G	NM_001039111		32932582	1	tier1	-	no_errors	ENST00000383763	ensembl	human	known	74_37	missense	63.16	7	12	SNP	1.000	C	C	32932582	G	C	32932582	3	2	52	1	0	0	0	0	1	0	0	0	16592	1087	38	5	1900	5	TRIM71	3	32932582	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2240710	32932582	165089848	173	12513											
CCR3	1232	genome.wustl.edu	37	chr3	46307343	46307343	+	Frame_Shift_Del	DEL	A	A	-																															cgctgctgaggtgccccagtAaaaaaaagtacaaggccatc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:46307343delA	ENST00000357422.2	+	4	1237	c.694delA	c.(694-696)aaafs	p.K234fs	CCR3_ENST00000541018.1_Frame_Shift_Del_p.K234fs|CCR3_ENST00000395942.2_Frame_Shift_Del_p.K234fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.K255fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.K234fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	234					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTGCCCCAGTAAAAAAAAGTA	0.468																																																	0													71	70	71					3																	46307343		2203	4300	6503	SO:0001589	frameshift_variant	0			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.694delA	3.37:g.46307343delA	ENSP00000350003:p.Lys234fs		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.K255fs	ENST00000357422.2	37	c.757	CCDS2738.1	3																																																																																			CCR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR3,prints_Chemokine_CCR1	ENSG00000183625		0.468	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2		0	25	0	A			46307343	1	tier1		no_errors	ENST00000545097	ensembl	human	known	74_37	frame_shift_del	66.67	6	12	DEL	0.000	-	-	46307343	A	-	46307343	7	5	52	1	0	1	0	1	0	0	0	0	2949	363	13	0	763	0	CCR3	3	46307343	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	13374761	46307343	151715087	174	12514											
PLXNB1	5364	genome.wustl.edu	37	chr3	48465484	48465485	+	Frame_Shift_Ins	INS	-	-	C																															ttgtgatgggtggaatgccaINSccccccacacccctgctggt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:48465484_48465485insC	ENST00000358536.4	-	3	805_806	c.536_537insG	c.(535-537)ggtfs	p.G179fs	PLXNB1_ENST00000296440.6_Frame_Shift_Ins_p.G179fs|PLXNB1_ENST00000456774.1_Frame_Shift_Ins_p.G179fs|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Frame_Shift_Ins_p.G179fs	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	179	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGAATGCCACCCCCCACACC	0.673																																																	0																																										SO:0001589	frameshift_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.537dupG	3.37:g.48465490_48465490dupC	ENSP00000351338:p.Gly179fs		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Frame_Shift_Ins	INS	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G180fs	ENST00000358536.4	37	c.537_536	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.673	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0	11	0	0	NM_002673		48465485	-1			no_errors	ENST00000296440	ensembl	human	known	74_37	frame_shift_ins	33.33	8	4	INS	0.987:1.000	C	C	48465485	-	C	48465484	7	5	52	1	0	1	1	0	0	0	0	0	12162	146	6	0	6014	0	PLXNB1	3	48465484	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	2158141	48465484	149556946	175	12515											
KLHDC8B	200942	genome.wustl.edu	37	chr3	49210244	49210244	+	Frame_Shift_Del	DEL	C	C	-																															gcctttgcttggcaagtgttCccccccatgcccacttgccg																								rs201475255	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:49210244delC	ENST00000332780.2	+	2	251	c.42delC	c.(40-42)ttcfs	p.F14fs	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	14						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGTGTTCCCCCCCATGC	0.637																																																	0													54	52	53					3																	49210244		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.42delC	3.37:g.49210244delC	ENSP00000327468:p.Phe14fs			Frame_Shift_Del	DEL	pfam_Kelch_1,smart_Kelch_1	p.M17fs	ENST00000332780.2	37	c.42	CCDS2791.1	3																																																																																			KLHDC8B	-	NULL	ENSG00000185909		0.637	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC8B	HGNC	protein_coding	OTTHUMT00000345974.1		0	39	0	C	NM_173546		49210244	1	tier1		no_errors	ENST00000332780	ensembl	human	known	74_37	frame_shift_del	28.57	45	18	DEL	1.000	-	-	49210244	C	-	49210244	7	5	52	1	0	1	0	1	0	0	0	0	8390	854	30	0	44	0	KLHDC8B	3	49210244	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	744760	49210244	148812186	176	12516											
MST1	327	genome.wustl.edu	37	chr3	49721799	49721799	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcacatctcactctccCgcacacgtcctcggtgcttg	6	10	8	17	3	2	0	1	0	2	0	6	0	3	0	2	1	2	3	2	1	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:49721799C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.R655Q	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTCACTCTCCCGCACACGTCC	0.602																																																	0													55	57	57					3																	49721799		2203	4300	6503	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"acylaminoacyl-peptidase"	102645	"N-acylaminoacyl-peptide hydrolase"	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721799C>T			Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R655Q	ENST00000296456.5	37	c.1964	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939061	0.34189	.	.	ENSG00000173531	ENST00000449682	D	0.88509	-2.39	5.59	-1.21	0.09524	.	1.156200	0.06730	N	0.776513	T	0.76737	0.4029	N	0.14661	0.345	0.09310	N	0.999997	B	0.13594	0.008	B	0.06405	0.002	T	0.59637	-0.7417	10	0.18710	T	0.47	.	7.2896	0.26358	0.138:0.1518:0.0:0.7101	.	655	G3XAK1	.	Q	655	ENSP00000414287:R655Q	ENSP00000414287:R655Q	R	-	2	0	MST1	49696803	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-0.034000	0.12225	-0.123000	0.11745	0.655000	0.94253	CGG	MST1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000173531		0.602	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	-	0	25	0	C			49721799	-1	tier1	-	no_errors	ENST00000449682	ensembl	human	known	74_37	missense	83.33	4	20	SNP	0.000	T	T	49721799	C	T	49721799	1	4	52	0	1	0	0	0	0	0	0	0	9928	652	23	1		1	MST1	3	49721799	IGR	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	511555	49721799	148300631	177	12517											
SEMA3F	6405	genome.wustl.edu	37	chr3	50222192	50222192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgccttaccactattgcCgtggaccaggtggatgcagc	8	9	11	13	2	0	0	0	0	0	0	0	2	0	2	5	3	5	1	5	3	3	4	rs139236502		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:50222192C>T	ENST00000002829.3	+	13	1885	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	SEMA3F_ENST00000434342.1_Silent_p.A436A|SEMA3F_ENST00000413852.1_Silent_p.A368A	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	467	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CCACTATTGCCGTGGACCAGG	0.667																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	66	56	59		1401	-7	0.3	3	dbSNP_134	59	0,8598		0,0,4299	no	coding-synonymous	SEMA3F	NM_004186.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		467/786	50222192	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1401C>T	3.37:g.50222192C>T			C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A467	ENST00000002829.3	37	c.1401	CCDS2811.1	3																																																																																			SEMA3F	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000001617		0.667	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	-	0	69	0	C	NM_004186		50222192	1	tier1	rs139236502	no_errors	ENST00000002829	ensembl	human	known	74_37	silent	55.93	26	33	SNP	0.135	T	T	50222192	C	T	50222192	2	4	52	1	0	0	0	0	0	0	0	1	14074	639	23	1		1	SEMA3F	3	50222192	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	500393	50222192	147800238	178	12518											
HYAL3	8372	genome.wustl.edu	37	chr3	50332292	50332292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggtggcagcctgggtgGgaggtagatgctggggaaga	8	6	22	5	0	0	2	0	0	0	2	0	4	0	4	1	8	2	4	1	8	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:50332292G>A	ENST00000336307.1	-	2	1014	c.742C>T	c.(742-744)Cca>Tca	p.P248S	HYAL3_ENST00000450982.1_Missense_Mutation_p.P248S|IFRD2_ENST00000417626.2_5'Flank|HYAL3_ENST00000359051.3_Missense_Mutation_p.P248S|IFRD2_ENST00000429673.2_5'Flank|HYAL3_ENST00000513170.1_Intron|IFRD2_ENST00000484043.1_5'Flank|HYAL3_ENST00000415204.1_Intron|IFRD2_ENST00000336089.4_5'Flank|IFRD2_ENST00000436390.1_5'Flank	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	248					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGCCTGGGTGGGAGGTAGATG	0.652																																																	0													62	62	62					3																	50332292		2203	4300	6503	SO:0001583	missense	0			AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.742C>T	3.37:g.50332292G>A	ENSP00000337425:p.Pro248Ser		O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.P248S	ENST00000336307.1	37	c.742	CCDS2815.1	3	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892255	0.52014	.	.	ENSG00000186792	ENST00000359051;ENST00000336307;ENST00000450982	T;T;T	0.21191	2.02;2.02;2.02	5.26	4.39	0.52855	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.461259	0.22002	U	0.065988	T	0.33294	0.0858	L	0.49126	1.545	0.28577	N	0.910343	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.11941	-1.0567	10	0.16896	T	0.51	-7.3315	7.4411	0.27183	0.0902:0.1686:0.7412:0.0	.	248;248	O43820;O43820-2	HYAL3_HUMAN;.	S	248	ENSP00000351946:P248S;ENSP00000337425:P248S;ENSP00000391922:P248S	ENSP00000337425:P248S	P	-	1	0	HYAL3	50307296	0.291000	0.24352	0.997000	0.53966	0.806000	0.45545	1.445000	0.35079	1.224000	0.43551	0.563000	0.77884	CCA	HYAL3	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000186792		0.652	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	HYAL3	HGNC	protein_coding	OTTHUMT00000346664.1	-	0	52	0	G	NM_003549		50332292	-1	tier1	-	no_errors	ENST00000336307	ensembl	human	known	74_37	missense	36.36	56	32	SNP	0.944	A	A	50332292	G	A	50332292	3	1	52	1	0	0	0	0	1	0	0	0	7492	1232	43	3	523	3	HYAL3	3	50332292	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	110100	50332292	147690138	179	12519											
PARP3	10039	genome.wustl.edu	37	chr3	51980259	51980259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacatggccgtggtggcCgccatcctcactagtgggct	7	8	12	14	2	1	0	1	0	0	0	2	0	2	0	5	4	1	1	5	4	2	1	rs370560805		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:51980259C>T	ENST00000417220.2	+	10	1664	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	PARP3_ENST00000431474.1_Silent_p.A392A|PARP3_ENST00000398755.3_Silent_p.A399A			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	392	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTGGTGGCCGCCATCCTCA	0.557																																																	0								C	,	1,4171		0,1,2085	81	84	83		1197,1176	-3	1	3		83	4,8392		0,4,4194	no	coding-synonymous,coding-synonymous	PARP3	NM_001003931.2,NM_005485.4	,	0,5,6279	TT,TC,CC		0.0476,0.024,0.0398	,	399/541,392/534	51980259	5,12563	2086	4198	6284	SO:0001819	synonymous_variant	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1176C>T	3.37:g.51980259C>T			Q8NER9|Q96CG2|Q9UG81	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A399	ENST00000417220.2	37	c.1197	CCDS43097.1	3																																																																																			PARP3	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000041880		0.557	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2	-	0	16	0	C	NM_005485.4		51980259	1	tier1	-	no_errors	ENST00000398755	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.894	T	T	51980259	C	T	51980259	2	4	52	1	0	0	0	0	0	0	0	1	11501	639	23	1		1	PARP3	3	51980259	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1647967	51980259	146042171	180	12520											
DNAH1	25981	genome.wustl.edu	37	chr3	52397145	52397145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcaagctgtcttctgaGcagctcagctcccaggtgtg	7	11	10	13	0	4	1	2	1	2	0	5	1	5	1	2	1	4	4	2	1	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:52397145G>T	ENST00000420323.2	+	32	5490	c.5229G>T	c.(5227-5229)gaG>gaT	p.E1743D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1743	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTCTTCTGAGCAGCTCAGCT	0.552																																																	0													105	103	104					3																	52397145		2018	4188	6206	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5229G>T	3.37:g.52397145G>T	ENSP00000401514:p.Glu1743Asp		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.E1743D	ENST00000420323.2	37	c.5229	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714117	0.68730	.	.	ENSG00000114841	ENST00000420323	T	0.13538	2.58	4.93	4.93	0.64822	.	0.000000	0.53938	D	0.000050	T	0.38878	0.1057	M	0.87180	2.865	0.48341	D	0.999635	D	0.89917	1.0	D	0.91635	0.999	T	0.30238	-0.9985	10	0.87932	D	0	.	8.3643	0.32378	0.2138:0.0:0.7862:0.0	.	1743	C9JXH6	.	D	1743	ENSP00000401514:E1743D	ENSP00000401514:E1743D	E	+	3	2	DNAH1	52372185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.439000	0.35013	2.574000	0.86865	0.655000	0.94253	GAG	DNAH1	-	superfamily_P-loop_NTPase	ENSG00000114841		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	43	0	G	NM_015512		52397145	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	44.44	25	20	SNP	1.000	T	T	52397145	G	T	52397145	3	4	52	1	0	0	0	0	1	0	0	0	4611	962	34	3	5351	3	DNAH1	3	52397145	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	416886	52397145	145625285	181	12521											
SELK	58515	genome.wustl.edu	37	chr3	53920927	53920927	+	Frame_Shift_Del	DEL	T	T	-																															tgagtttccatagcttcttcTttttttcacatcttgctgaa																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:53920927delT	ENST00000495461.1	-	3	344	c.145delA	c.(145-147)agafs	p.R50fs	SELK_ENST00000485414.1_5'Flank|SELK_ENST00000541726.1_Frame_Shift_Del_p.R50fs			Q9Y6D0	SELK_HUMAN		50			R -> S (in dbSNP:rs11562).		calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAGCTTCTTCTTTTTTTCACA	0.323																																																	0													47	43	44					3																	53920927		1816	4070	5886	SO:0001589	frameshift_variant	0																														ENST00000495461.1:c.145delA	3.37:g.53920927delT	ENSP00000418813:p.Arg50fs		Q8IZQ3|Q9P085	Frame_Shift_Del	DEL	pfam_Se_SelK/SelG	p.R49fs	ENST00000495461.1	37	c.145	CCDS54597.1	3																																																																																			SELK	-	pfam_Se_SelK/SelG	ENSG00000113811		0.323	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	Uniprot_gn	protein_coding	OTTHUMT00000351659.1		0	31	0	T			53920927	-1	tier1		no_errors	ENST00000541726	ensembl	human	known	74_37	frame_shift_del	56.52	10	13	DEL	0.878	-	-	53920927	T	-	53920927	7	5	52	1	0	1	0	1	0	0	0	0	14060	1617	56	0	151	0	SELK	3	53920927	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	1523782	53920927	144101503	182	12522											
APPL1	26060	genome.wustl.edu	37	chr3	57293965	57293965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtttatgaaactatgCgccaaatcttagctgcccgg	10	13	9	9	2	1	1	0	1	1	0	1	1	1	1	2	1	4	3	2	1	5	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:57293965C>T	ENST00000288266.3	+	17	1723	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	526	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TGAAACTATGCGCCAAATCTT	0.378																																																	0													90	86	87					3																	57293965		2203	4300	6503	SO:0001583	missense	0			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1576C>T	3.37:g.57293965C>T	ENSP00000288266:p.Arg526Cys		Q9P2B9	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.R526C	ENST00000288266.3	37	c.1576	CCDS2882.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595556	0.86953	.	.	ENSG00000157500	ENST00000288266	T	0.20463	2.07	5.59	5.59	0.84812	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49934	-0.8886	10	0.87932	D	0	-24.7006	19.956	0.97218	0.0:1.0:0.0:0.0	.	509;526	B4DQX8;Q9UKG1	.;DP13A_HUMAN	C	526	ENSP00000288266:R526C	ENSP00000288266:R526C	R	+	1	0	APPL1	57269005	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.241000	0.51376	2.788000	0.95919	0.557000	0.71058	CGC	APPL1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000157500		0.378	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL1	HGNC	protein_coding	OTTHUMT00000258196.2	-	0	46	0	C	NM_012096		57293965	1	tier1	-	no_errors	ENST00000288266	ensembl	human	known	74_37	missense	65.79	13	25	SNP	1.000	T	T	57293965	C	T	57293965	3	4	52	1	0	0	0	0	1	0	0	0	817	768	27	1	1642	1	APPL1	3	57293965	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3373038	57293965	140728465	183	12523											
TMF1	7110	genome.wustl.edu	37	chr3	69072373	69072373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatctatttgagttttgtaCatattttttacatcttcgag	9	21	5	6	1	3	1	1	1	2	0	4	2	3	1	0	0	2	2	0	0	4	10			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:69072373C>T	ENST00000398559.2	-	17	3453	c.3237G>A	c.(3235-3237)atG>atA	p.M1079I	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000489370.1_5'Flank|TMF1_ENST00000543976.1_Missense_Mutation_p.M1082I|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1079					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GAGTTTTGTACATATTTTTTA	0.318																																																	0													128	112	117					3																	69072373		1812	4062	5874	SO:0001583	missense	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3237G>A	3.37:g.69072373C>T	ENSP00000381567:p.Met1079Ile		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.M1082I	ENST00000398559.2	37	c.3246	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778249	0.49786	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.82619	-1.63;-1.63	5.56	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.88573	0.6473	L	0.50993	1.605	0.58432	D	0.999999	D;D	0.67145	0.996;0.99	D;P	0.75484	0.986;0.867	D	0.88752	0.3251	10	0.48119	T	0.1	-14.894	16.869	0.86036	0.0:0.8716:0.1284:0.0	.	1082;1079	P82094-2;P82094	.;TMF1_HUMAN	I	1079;1082;995	ENSP00000381567:M1079I;ENSP00000438706:M1082I	ENSP00000348582:M995I	M	-	3	0	TMF1	69155063	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	7.776000	0.85560	1.479000	0.48272	-0.172000	0.13284	ATG	TMF1	-	pfam_TMF_TATA-bd	ENSG00000144747		0.318	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	-	0	53	0	C	NM_007114		69072373	-1	tier1	-	no_errors	ENST00000543976	ensembl	human	known	74_37	missense	50.00	15	15	SNP	1.000	T	T	69072373	C	T	69072373	3	4	52	1	0	0	0	0	1	0	0	0	16275	478	17	3	48	3	TMF1	3	69072373	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	11778408	69072373	128950057	184	12524											
CCDC80	151887	genome.wustl.edu	37	chr3	112358576	112358576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggatctctcaattccGcgagacctcccagtgtgcct	8	10	10	13	2	2	2	1	0	1	2	5	4	4	3	4	1	1	0	4	1	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:112358576G>A	ENST00000206423.3	-	2	1130	c.177C>T	c.(175-177)cgC>cgT	p.R59R	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Silent_p.R59R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	59					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTCAATTCCGCGAGACCTCC	0.577																																																	0													76	68	71					3																	112358576		2203	4300	6503	SO:0001819	synonymous_variant	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.177C>T	3.37:g.112358576G>A			D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Silent	SNP	NULL	p.R59	ENST00000206423.3	37	c.177	CCDS2968.1	3																																																																																			CCDC80	-	NULL	ENSG00000091986		0.577	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	-	0	48	0	G	NM_199511		112358576	-1	tier1	-	no_errors	ENST00000206423	ensembl	human	known	74_37	silent	35.05	63	34	SNP	0.020	A	A	112358576	G	A	112358576	2	1	52	1	0	0	0	0	0	0	0	1	2861	1074	38	1		1	CCDC80	3	112358576	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	43286203	112358576	85663854	185	12525											
CD200R1	131450	genome.wustl.edu	37	chr3	112693701	112693701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagttctccaagggcagaGcatttctgttttctcttttt	7	17	8	9	0	3	1	0	0	3	1	5	1	3	1	1	1	2	5	1	1	1	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:112693701G>T	ENST00000471858.1	-	1	236	c.4C>A	c.(4-6)Ctc>Atc	p.L2I	CD200R1_ENST00000308611.3_Missense_Mutation_p.L2I|CD200R1_ENST00000440122.2_Missense_Mutation_p.L2I|CD200R1_ENST00000490004.1_Missense_Mutation_p.L2I|CD200R1_ENST00000295863.4_Missense_Mutation_p.L2I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	2					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CAAGGGCAGAGCATTTCTGTT	0.458																																																	0													205	177	186					3																	112693701		2203	4300	6503	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"Immunoglobulin superfamily / C2-set domain containing"	24235	protein-coding gene	gene with protein product		607546	"MOX2 receptor"	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.4C>A	3.37:g.112693701G>T	ENSP00000418928:p.Leu2Ile		B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.L2I	ENST00000471858.1	37	c.4	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396354	0.62177	.	.	ENSG00000163606	ENST00000471858;ENST00000308611;ENST00000295863;ENST00000440122;ENST00000490004	T;T;T;T;T	0.29397	2.16;2.17;1.63;1.57;1.76	5.66	1.01	0.19927	.	2.258330	0.02188	N	0.061070	T	0.30759	0.0775	L	0.43152	1.355	0.09310	N	0.999998	B;P;P;P;P	0.47962	0.267;0.822;0.903;0.728;0.822	B;B;P;B;B	0.46275	0.035;0.248;0.51;0.126;0.248	T	0.12041	-1.0563	10	0.33141	T	0.24	.	3.5124	0.07713	0.0864:0.2838:0.4421:0.1877	.	2;2;2;2;2	B4E2U2;Q8TD46-3;Q8TD46-2;Q8TD46;Q8TD46-4	.;.;.;MO2R1_HUMAN;.	I	2	ENSP00000418928:L2I;ENSP00000311035:L2I;ENSP00000295863:L2I;ENSP00000405733:L2I;ENSP00000418801:L2I	ENSP00000295863:L2I	L	-	1	0	CD200R1	114176391	0.586000	0.26782	0.674000	0.29902	0.996000	0.88848	0.591000	0.23969	0.375000	0.24679	0.655000	0.94253	CTC	CD200R1	-	NULL	ENSG00000163606		0.458	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	-	0	18	0	G	NM_138806		112693701	-1	tier1	-	no_errors	ENST00000308611	ensembl	human	known	74_37	missense	29.79	33	14	SNP	0.266	T	T	112693701	G	T	112693701	3	4	52	1	0	0	0	0	1	0	0	0	2988	971	34	3	1121	3	CD200R1	3	112693701	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	335125	112693701	85328729	186	12526											
KIAA2018	205717	genome.wustl.edu	37	chr3	113376116	113376116	+	Silent	SNP	C	C	T																															tgttgttgttgctgttgctgCtgctgctgctgctgctgctg																								rs112313093|rs59601191		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000316407.4_Silent_p.Q1471Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgttgctgctgctgctgct	0.498																																																	0													63	72	69					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4413G>A	3.37:g.113376116C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1471	ENST00000478658.1	37	c.4413	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	29	0	C	NM_001009899		113376116	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	silent	21.88	25	7	SNP	1.000	T	T	113376116	C	T	113376116	2	4	52	1	0	0	0	0	0	0	0	1	8295	796	28	3		3	KIAA2018	3	113376116	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	682415	113376116	84646314	187	12527	47	2									
KIAA2018	205717	genome.wustl.edu	37	chr3	113376122	113376122	+	Silent	SNP	C	C	T																															tgttgctgttgctgctgctgCtgctgctgctgctgctgctg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:113376122C>T	ENST00000478658.1	-	5	4424	c.4407G>A	c.(4405-4407)caG>caA	p.Q1469Q	KIAA2018_ENST00000316407.4_Silent_p.Q1469Q|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1469	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgctgctgctgctgctgct	0.498																																																	0													55	66	62					3																	113376122		2188	4278	6466	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4407G>A	3.37:g.113376122C>T			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.Q1469	ENST00000478658.1	37	c.4407	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	38	0	C	NM_001009899		113376122	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	silent	11.36	39	5	SNP	1.000	T	T	113376122	C	T	113376122	2	4	52	1	0	0	0	0	0	0	0	1	8295	796	28	3		3	KIAA2018	3	113376122	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6	113376122	84646308	188	12528	47	2									
KIAA2018	205717	genome.wustl.edu	37	chr3	113377481	113377482	+	Frame_Shift_Ins	INS	-	-	T																															aaagagatgatttctgagggINStttttttttttagcaagatc																								rs78597857		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:113377481_113377482insT	ENST00000478658.1	-	5	3064_3065	c.3047_3048insA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.N1016fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTTCTGAGGGTTTTTTTTTTT	0.366																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)																																								SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3048dupA	3.37:g.113377492_113377492dupT	ENSP00000420721:p.Asn1016fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3048_3047	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.366	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	25	0	-	NM_001009899		113377482	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_ins	15.62	27	5	INS	0.174:0.827	T	T	113377482	-	T	113377481	7	5	52	1	0	1	1	0	0	0	0	0	8295	1252	44	0	3693	0	KIAA2018	3	113377481	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	1359	113377481	84644949	189	12529											
KALRN	8997	genome.wustl.edu	37	chr3	124438073	124438073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccatgaatacttctgtgGtgtgagcaatgctgccagag	9	10	11	11	0	1	3	0	2	1	1	1	3	1	3	3	1	4	2	3	1	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:124438073G>C	ENST00000291478.5	+	27	3789	c.3626G>C	c.(3625-3627)gGt>gCt	p.G1209A	KALRN_ENST00000428018.2_Missense_Mutation_p.G1177A|KALRN_ENST00000360013.3_Missense_Mutation_p.G2906A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2905					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TACTTCTGTGGTGTGAGCAAT	0.512																																																	0													78	75	76					3																	124438073		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3626G>C	3.37:g.124438073G>C	ENSP00000291478:p.Gly1209Ala		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.G2906A	ENST00000291478.5	37	c.8717	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627738|2.627738	0.46944|0.46944	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.63744|.	-0.06;-0.06;-0.06|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.209104|.	0.40640|.	N|.	0.001046|.	T|T	0.33440|0.33440	0.0863|0.0863	N|N	0.21097|0.21097	0.63|0.63	0.25982|0.25982	N|N	0.982358|0.982358	P;B|.	0.35714|.	0.517;0.037|.	B;B|.	0.36504|.	0.226;0.057|.	T|T	0.17258|0.17258	-1.0375|-1.0375	10|5	0.13470|.	T|.	0.59|.	.|.	10.3621|10.3621	0.44001|0.44001	0.1144:0.0:0.8856:0.0|0.1144:0.0:0.8856:0.0	.|.	1209;2905|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	A|L	2906;1209;1177|2875	ENSP00000353109:G2906A;ENSP00000291478:G1209A;ENSP00000402419:G1177A|.	ENSP00000291478:G1209A|.	G|V	+|+	2|1	0|0	KALRN|KALRN	125920763|125920763	0.972000|0.972000	0.33761|0.33761	0.909000|0.909000	0.35828|0.35828	0.990000|0.990000	0.78478|0.78478	2.280000|2.280000	0.43443|0.43443	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGT|GTG	KALRN	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160145		0.512	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	-	0	25	0	G	NM_003947		124438073	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.752	C	C	124438073	G	C	124438073	3	2	52	1	0	0	0	0	1	0	0	0	8002	1261	44	5	9111	5	KALRN	3	124438073	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	11060592	124438073	73584357	190	12530											
KLF15	28999	genome.wustl.edu	37	chr3	126071107	126071107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgggctggatctgcagcAacactgggatggggccatca	9	6	15	11	1	2	0	1	0	1	0	2	2	2	2	1	5	3	4	1	5	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:126071107A>G	ENST00000296233.3	-	2	889	c.659T>C	c.(658-660)tTg>tCg	p.L220S	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	220					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GATCTGCAGCAACACTGGGAT	0.677																																																	0													26	24	24					3																	126071107		2201	4300	6501	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.659T>C	3.37:g.126071107A>G	ENSP00000296233:p.Leu220Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L220S	ENST00000296233.3	37	c.659	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870358	0.51588	.	.	ENSG00000163884	ENST00000296233	T	0.08546	3.08	4.44	4.44	0.53790	.	0.343079	0.30483	N	0.009532	T	0.06735	0.0172	L	0.28274	0.84	0.40187	D	0.977364	P	0.42827	0.791	B	0.37650	0.255	T	0.37244	-0.9714	10	0.45353	T	0.12	.	12.2775	0.54744	1.0:0.0:0.0:0.0	.	220	Q9UIH9	KLF15_HUMAN	S	220	ENSP00000296233:L220S	ENSP00000296233:L220S	L	-	2	0	KLF15	127553797	1.000000	0.71417	0.994000	0.49952	0.759000	0.43091	9.215000	0.95146	1.950000	0.56595	0.402000	0.26972	TTG	KLF15	-	NULL	ENSG00000163884		0.677	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	-	0	19	0	A	NM_014079		126071107	-1	tier1	-	no_errors	ENST00000296233	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.995	G	G	126071107	A	G	126071107	3	3	52	1	0	0	0	0	1	0	0	0	8370	131	5	4	599	4	KLF15	3	126071107	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1633034	126071107	71951323	191	12531											
COL6A5	256076	genome.wustl.edu	37	chr3	130107894	130107894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagagatcagtggggataGcagcctagtttttcatgttg	11	12	13	5	0	2	2	2	0	0	2	2	4	2	3	1	2	2	3	1	2	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:130107894G>C	ENST00000432398.2	+	6	2827	c.2333G>C	c.(2332-2334)aGc>aCc	p.S778T	COL6A5_ENST00000265379.6_Missense_Mutation_p.S778T	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	778	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGTGGGGATAGCAGCCTAGTT	0.428																																																	0													192	162	171					3																	130107894		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2333G>C	3.37:g.130107894G>C	ENSP00000390895:p.Ser778Thr		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S778T	ENST00000432398.2	37	c.2333		3	.	.	.	.	.	.	.	.	.	.	G	1.211	-0.629584	0.03610	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.76839	-1.05;-1.05	5.48	2.62	0.31277	.	.	.	.	.	T	0.64068	0.2565	N	0.25031	0.7	0.09310	N	1	B	0.14438	0.01	B	0.26614	0.071	T	0.56733	-0.7930	9	0.66056	D	0.02	.	5.3238	0.15895	0.27:0.2226:0.5074:0.0	.	778	A8TX70-2	.	T	778	ENSP00000390895:S778T;ENSP00000265379:S778T	ENSP00000265379:S778T	S	+	2	0	COL6A5	131590584	0.000000	0.05858	0.014000	0.15608	0.167000	0.22549	0.209000	0.17435	0.674000	0.31244	0.650000	0.86243	AGC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.428	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0	20	0	G	NM_153264		130107894	1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	C	C	130107894	G	C	130107894	3	2	52	1	0	0	0	0	1	0	0	0	3709	971	34	5	2351	5	COL6A5	3	130107894	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4036787	130107894	67914536	192	12532											
DZIP1L	199221	genome.wustl.edu	37	chr3	137811298	137811299	+	Frame_Shift_Ins	INS	-	-	C																															tttttttagtttatctatttINSccccataaagtttggtccac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:137811298_137811299insC	ENST00000327532.2	-	5	1158_1159	c.796_797insG	c.(796-798)gaafs	p.E266fs	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Frame_Shift_Ins_p.E266fs	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	266					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTATCTATTTCCCCATAAAGT	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.797dupG	3.37:g.137811302_137811302dupC	ENSP00000332148:p.Glu266fs		C9JUG5|Q96M38	Frame_Shift_Ins	INS	pfscan_Znf_C2H2	p.E266fs	ENST00000327532.2	37	c.797_796	CCDS3096.1	3																																																																																			DZIP1L	-	NULL	ENSG00000158163		0.342	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1		0	34	0	-	NM_173543		137811299	-1	tier1		no_errors	ENST00000327532	ensembl	human	known	74_37	frame_shift_ins	31.82	30	14	INS	1.000:0.998	C	C	137811299	-	C	137811298	7	5	52	1	0	1	1	0	0	0	0	0	4878	1783	62	0	1563	0	DZIP1L	3	137811298	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	7703404	137811298	60211132	193	12533											
PLSCR1	5359	genome.wustl.edu	37	chr3	146239638	146239640	+	In_Frame_Del	DEL	ACA	ACA	-																															acctcctgaaggcagcagggAcaacaacagctgctacatct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:146239638_146239640delACA	ENST00000342435.4	-	6	966_968	c.556_558delTGT	c.(556-558)tgtdel	p.C186del	PLSCR1_ENST00000487389.1_In_Frame_Del_p.C179del|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_In_Frame_Del_p.C105del	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	186	Cys-rich.				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GGCAGCAGGGACAACAACAGCTG	0.433																																																	0																																										SO:0001651	inframe_deletion	0			AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.556_558delTGT	3.37:g.146239644_146239646delACA	ENSP00000345494:p.Cys186del		B2R8H8|B4DTE8	In_Frame_Del	DEL	pfam_Scramblase,superfamily_Tubby_C-like	p.C186in_frame_del	ENST00000342435.4	37	c.558_556	CCDS3135.1	3																																																																																			PLSCR1	-	pfam_Scramblase	ENSG00000188313		0.433	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLSCR1	HGNC	protein_coding	OTTHUMT00000355257.2		0	35	0	ACA	NM_021105		146239640	-1	tier1		no_errors	ENST00000342435	ensembl	human	known	74_37	in_frame_del	13.10	73	11	DEL	0.786:0.008:0.108	-	-	146239640	ACA	-	146239638	7	5	52	1	0	1	0	1	0	0	0	0	12148	273	10	0	414	0	PLSCR1	3	146239638	In_Frame_Del	DEL	ACA	TCGA-L5-A43J-01A-12D-A247-09	8428340	146239638	51782792	194	12534											
PRKCI	5584	genome.wustl.edu	37	chr3	169988209	169988209	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaattactcttttcagCgtgctcactgtgccatctgc	6	16	8	11	1	4	1	2	1	2	0	4	1	4	1	1	0	5	2	1	0	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:169988209C>T	ENST00000295797.4	+	6	756	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	151	Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	CTCTTTTCAGCGTGCTCACTG	0.413																																																	0													89	84	86					3																	169988209		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.451-1C>T	3.37:g.169988209C>T			D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R151C	ENST00000295797.4	37	c.451	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558461	0.65538	.	.	ENSG00000163558	ENST00000295797	D	0.92699	-3.09	5.41	5.41	0.78517	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.65874	0.939	D	0.95564	0.8632	9	.	.	.	.	14.9583	0.71135	0.21:0.7899:0.0:0.0	.	151	P41743	KPCI_HUMAN	C	151	ENSP00000295797:R151C	.	R	+	1	0	PRKCI	171470903	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	3.205000	0.51090	2.695000	0.91970	0.591000	0.81541	CGT	PRKCI	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd	ENSG00000163558		0.413	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	-	0	21	0	C	NM_002740	Missense_Mutation	169988209	1	tier1	-	no_errors	ENST00000295797	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T	T	169988209	C	T	169988209	5	4	52	1	0	0	0	0	0	0	1	0	12556	782	27	1	473	1	PRKCI	3	169988209	Splice_Site	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	23748571	169988209	28034221	195	12535											
FNDC3B	64778	genome.wustl.edu	37	chr3	172096210	172096210	+	Frame_Shift_Del	DEL	C	C	-																															ttcagcacaaccaaaagtgtCccccccaccatcaaaggtgt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:172096210delC	ENST00000336824.4	+	24	3258	c.3159delC	c.(3157-3159)gtcfs	p.V1053fs	FNDC3B_ENST00000415807.2_Frame_Shift_Del_p.V1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Del_p.V1053fs	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1053					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCAAAAGTGTCCCCCCCACCA	0.468																																																	0													69	70	69					3																	172096210		2203	4300	6503	SO:0001589	frameshift_variant	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3159delC	3.37:g.172096210delC	ENSP00000338523:p.Val1053fs		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T1056fs	ENST00000336824.4	37	c.3159	CCDS3217.1	3																																																																																			FNDC3B	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.468	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2		0	44	0	C	NM_022763		172096210	1	tier1		no_errors	ENST00000336824	ensembl	human	known	74_37	frame_shift_del	30.59	59	26	DEL	0.958	-	-	172096210	C	-	172096210	7	5	52	1	0	1	0	1	0	0	0	0	5992	842	30	0	3249	0	FNDC3B	3	172096210	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	2108001	172096210	25926220	196	12536											
FNDC3B	64778	genome.wustl.edu	37	chr3	172098807	172098807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaaattttatgggagaCggtaccatcaatgaaaggtg	14	11	12	4	1	1	3	1	2	0	1	1	4	1	3	1	3	1	1	1	3	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:172098807C>T	ENST00000336824.4	+	25	3326	c.3227C>T	c.(3226-3228)aCg>aTg	p.T1076M	FNDC3B_ENST00000415807.2_Missense_Mutation_p.T1076M|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T1076M	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	1076	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)	p.T1076R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTATGGGAGACGGTACCATCA	0.398																																																	1	Substitution - Missense(1)	lung(1)											175	165	168					3																	172098807		2203	4300	6503	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.3227C>T	3.37:g.172098807C>T	ENSP00000338523:p.Thr1076Met		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T1076M	ENST00000336824.4	37	c.3227	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481069	0.44147	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57752	0.38;0.38;0.38	6.07	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.234215	0.50627	D	0.000111	T	0.42743	0.1216	L	0.35854	1.095	0.80722	D	1	B	0.27140	0.169	B	0.29663	0.105	T	0.23261	-1.0193	10	0.31617	T	0.26	-15.365	11.9477	0.52938	0.0:0.8719:0.0:0.1281	.	1076	Q53EP0	FND3B_HUMAN	M	1076	ENSP00000411242:T1076M;ENSP00000338523:T1076M;ENSP00000389094:T1076M	ENSP00000338523:T1076M	T	+	2	0	FNDC3B	173581501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.503000	0.53340	2.885000	0.99019	0.655000	0.94253	ACG	FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.398	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	0	36	0	C	NM_022763		172098807	1	tier1	-	no_errors	ENST00000336824	ensembl	human	known	74_37	missense	9.18	89	9	SNP	1.000	T	T	172098807	C	T	172098807	3	4	52	1	0	0	0	0	1	0	0	0	5992	536	19	1	3321	1	FNDC3B	3	172098807	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2597	172098807	25923623	197	12537											
PIK3CA	5290	genome.wustl.edu	37	chr3	178921458	178921458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccagacgcatttccacaGctacaccatatatgaatgga	14	10	6	11	1	0	2	0	1	0	1	2	3	2	3	3	1	2	2	3	1	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:178921458G>T	ENST00000263967.3	+	5	1097	c.940G>T	c.(940-942)Gct>Tct	p.A314S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	314					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATTTCCACAGCTACACCATA	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0													116	111	113					3																	178921458		1860	4098	5958	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.940G>T	3.37:g.178921458G>T	ENSP00000263967:p.Ala314Ser		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.A314S	ENST00000263967.3	37	c.940	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476208	0.63737	.	.	ENSG00000121879	ENST00000263967	T	0.72167	-0.63	5.25	5.25	0.73442	.	0.109182	0.64402	D	0.000007	T	0.56455	0.1986	N	0.24115	0.695	0.80722	D	1	B	0.21905	0.062	B	0.18871	0.023	T	0.54490	-0.8286	10	0.07030	T	0.85	-19.1991	19.2153	0.93774	0.0:0.0:1.0:0.0	.	314	P42336	PK3CA_HUMAN	S	314	ENSP00000263967:A314S	ENSP00000263967:A314S	A	+	1	0	PIK3CA	180404152	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.397000	0.79903	2.624000	0.88883	0.467000	0.42956	GCT	PIK3CA	-	NULL	ENSG00000121879		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0	48	0	G			178921458	1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	T	T	178921458	G	T	178921458	3	4	52	1	0	0	0	0	1	0	0	0	11952	971	34	3	954	3	PIK3CA	3	178921458	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6822651	178921458	19100972	198	12538											
DNAJC19	131118	genome.wustl.edu	37	chr3	180705810	180705810	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagaattaacaaagtcttaCagattttggtaggctttgaa	16	13	8	4	0	1	3	0	1	1	2	1	3	1	3	0	2	2	2	0	2	7	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:180705810C>T	ENST00000382564.2	-	3	300		c.e3+1		DNAJC19_ENST00000491873.1_Splice_Site|DNAJC19_ENST00000486355.1_Splice_Site|DNAJC19_ENST00000479269.1_Splice_Site	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19						cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			CAAAGTCTTACAGATTTTGGT	0.368																																																	0													80	82	81					3																	180705810		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"Heat shock proteins / DNAJ (HSP40)"	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.129+1G>A	3.37:g.180705810C>T			B2R4B1|C9JBV1	Splice_Site	SNP	-	e3+1	ENST00000382564.2	37	c.129+1	CCDS33895.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228352	0.79576	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8766	0.86053	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC19	182188504	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.085000	0.71343	2.716000	0.92895	0.655000	0.94253	.	DNAJC19	-	-	ENSG00000205981		0.368	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC19	HGNC	protein_coding	OTTHUMT00000350336.1	-	0	21	0	C	NM_145261	Intron	180705810	-1	tier1	-	no_errors	ENST00000382564	ensembl	human	known	74_37	splice_site	22.22	42	12	SNP	1.000	T	T	180705810	C	T	180705810	5	4	52	1	0	0	0	0	0	0	1	0	4652	492	17	3	236	3	DNAJC19	3	180705810	Splice_Site	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1784352	180705810	17316620	199	12539											
ATP11B	23200	genome.wustl.edu	37	chr3	182635844	182635844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggatcctttctataccaaCgacaggagcatcttgactct	10	12	7	12	2	3	1	0	1	3	0	5	4	4	3	2	2	3	1	2	2	3	4	rs372790774		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:182635844C>T	ENST00000323116.5	+	30	3746	c.3486C>T	c.(3484-3486)aaC>aaT	p.N1162N		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1162					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.N1162N(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TCTATACCAACGACAGGAGCA	0.403																																																	1	Substitution - coding silent(1)	prostate(1)						C		1,4405	2.1+/-5.4	0,1,2202	163	148	153		3486	4	1	3		153	0,8600		0,0,4300	no	coding-synonymous	ATP11B	NM_014616.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1162/1178	182635844	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.3486C>T	3.37:g.182635844C>T			Q96FN1|Q9UKK7	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.N1162	ENST00000323116.5	37	c.3486	CCDS33896.1	3																																																																																			ATP11B	-	NULL	ENSG00000058063		0.403	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	HGNC	protein_coding	OTTHUMT00000350598.1	-	0	64	0	C	NM_014616		182635844	1	tier1	-	no_errors	ENST00000323116	ensembl	human	known	74_37	silent	9.40	106	11	SNP	1.000	T	T	182635844	C	T	182635844	2	4	52	1	0	0	0	0	0	0	0	1	1121	535	19	1		1	ATP11B	3	182635844	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1930034	182635844	15386586	200	12540											
TFRC	7037	genome.wustl.edu	37	chr3	195778941	195778941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaccgttattttgtttacGcagtttcaagttctccagta	9	16	7	9	2	2	0	1	0	1	0	3	0	2	0	2	0	2	7	2	0	4	8			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr3:195778941G>A	ENST00000360110.4	-	19	2324	c.2155C>T	c.(2155-2157)Cgt>Tgt	p.R719C	TFRC_ENST00000535031.1_Missense_Mutation_p.R437C|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.R719C|TFRC_ENST00000420415.1_Missense_Mutation_p.R638C	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	719	Ligand-binding.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	TTTTGTTTACGCAGTTTCAAG	0.488			T	BCL6	NHL																																			Dom	yes		3	3q29	7037	"transferrin receptor (p90, CD71)"		L	0													82	79	80					3																	195778941		2203	4300	6503	SO:0001583	missense	0			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"CD molecules"	11763	protein-coding gene	gene with protein product		190010	"transferrin receptor (p90, CD71)"				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.2155C>T	3.37:g.195778941G>A	ENSP00000353224:p.Arg719Cys		D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.R719C	ENST00000360110.4	37	c.2155	CCDS3312.1	3	.	.	.	.	.	.	.	.	.	.	G	9.220	1.033132	0.19590	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396;ENST00000535031	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.91	4.86	0.63082	Transferrin receptor-like, dimerisation domain (3);	0.333400	0.33040	N	0.005360	T	0.67924	0.2945	M	0.68317	2.08	0.20196	N	0.999929	D	0.89917	1.0	D	0.70935	0.971	T	0.59402	-0.7461	10	0.39692	T	0.17	-11.8004	13.7995	0.63190	0.1231:0.0:0.8769:0.0	.	719	P02786	TFR1_HUMAN	C	719;638;719;437	ENSP00000353224:R719C;ENSP00000390133:R638C;ENSP00000376197:R719C;ENSP00000437753:R437C	ENSP00000353224:R719C	R	-	1	0	TFRC	197263338	0.968000	0.33430	0.928000	0.36995	0.027000	0.11550	2.839000	0.48207	2.802000	0.96397	0.655000	0.94253	CGT	TFRC	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000072274		0.488	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	HGNC	protein_coding	OTTHUMT00000341346.1	-	0	34	0	G			195778941	-1	tier1	-	no_errors	ENST00000360110	ensembl	human	known	74_37	missense	13.41	71	11	SNP	0.007	A	A	195778941	G	A	195778941	3	1	52	1	0	0	0	0	1	0	0	0	15859	1087	38	1	131	1	TFRC	3	195778941	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	13143097	195778941	2243489	201	12541											
ZNF721	170960	genome.wustl.edu	37	chr4	435768	435768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtttctctccagtatgaaTtctcctatgtttagtaaggg	8	16	10	7	0	2	1	0	1	2	0	5	1	3	1	2	2	0	4	2	2	5	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:435768T>C	ENST00000338977.5	-	2	2500	c.2452A>G	c.(2452-2454)Att>Gtt	p.I818V	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.I830V			Q8TF20	ZN721_HUMAN	zinc finger protein 721	818					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCAGTATGAATTCTCCTATGT	0.378																																																	0													68	76	73					4																	435768		2119	4245	6364	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2452A>G	4.37:g.435768T>C	ENSP00000340524:p.Ile818Val		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I830V	ENST00000338977.5	37	c.2488		4	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822616	0.32237	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.16324	3.22;2.35	0.499	0.499	0.16914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	L	0.31926	0.97	0.22701	N	0.998833	B;B;B	0.34181	0.126;0.44;0.386	B;P;P	0.55087	0.391;0.768;0.658	T	0.44360	-0.9333	9	0.38643	T	0.18	.	5.2826	0.15684	0.0:1.0E-4:0.0:0.9999	.	818;830;830	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	818;830	ENSP00000340524:I818V;ENSP00000428878:I830V	ENSP00000340524:I818V	I	-	1	0	ZNF721	425768	0.000000	0.05858	0.625000	0.29200	0.498000	0.33706	0.199000	0.17237	0.435000	0.26365	0.163000	0.16589	ATT	ZNF721	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.378	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0	38	0	T	NM_133474		435768	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	51.43	34	36	SNP	0.998	C	C	435768	T	C	435768	3	2	52	1	0	0	0	0	1	0	0	0	18170	1493	52	4	287	4	ZNF721	4	435768	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09		435768	190718508	202	12542											
MAEA	10296	genome.wustl.edu	37	chr4	1332301	1332301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgcagcccctgcccatgGcccactgtgccaactcccgc	5	6	10	20	2	0	0	0	0	0	0	1	0	1	0	6	2	4	1	6	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:1332301G>A	ENST00000303400.4	+	8	1054	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	MAEA_ENST00000505177.2_Missense_Mutation_p.A369T|MAEA_ENST00000452175.2_Missense_Mutation_p.A252T|MAEA_ENST00000510794.1_Missense_Mutation_p.A330T|MAEA_ENST00000505839.1_Missense_Mutation_p.A283T|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_Missense_Mutation_p.A263T|MAEA_ENST00000264750.6_Missense_Mutation_p.A290T	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	331					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cytoskeleton organization (GO:0007010)|enucleate erythrocyte development (GO:0048822)|erythrocyte maturation (GO:0043249)|negative regulation of myeloid cell apoptotic process (GO:0033033)|regulation of mitotic cell cycle (GO:0007346)	actomyosin contractile ring (GO:0005826)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)		WF10(DB05389)	CCTGCCCATGGCCCACTGTGC	0.612																																																	0													54	49	51					4																	1332301		2203	4300	6503	SO:0001583	missense	0			AF084928	CCDS33936.1, CCDS33937.1, CCDS75090.1	4p16.3	2012-07-20			ENSG00000090316	ENSG00000090316			13731	protein-coding gene	gene with protein product	"GID complex subunit 9, FYV10 homolog (S. cerevisiae)"	606801				9763581	Standard	XM_005272243		Approved	EMP, GID9	uc003gda.3	Q7L5Y9	OTTHUMG00000160169	ENST00000303400.4:c.991G>A	4.37:g.1332301G>A	ENSP00000302830:p.Ala331Thr		O95285|Q5JB54|Q6ZRD6|Q9BQ11|Q9H9V6|Q9H9Z4|Q9NW84	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.A331T	ENST00000303400.4	37	c.991	CCDS33936.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.201075	0.94997	.	.	ENSG00000090316	ENST00000303400;ENST00000505177;ENST00000264750;ENST00000382947;ENST00000539495;ENST00000452175;ENST00000514708;ENST00000510794;ENST00000505839	T;T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78;2.78	5.41	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.79123	2.44	0.80722	D	1	D;D;D;P;D;D	0.89917	0.999;0.995;0.999;0.955;0.999;1.0	D;D;D;P;D;D	0.80764	0.989;0.968;0.96;0.698;0.967;0.994	T	0.09885	-1.0654	10	0.42905	T	0.14	-17.2851	15.5775	0.76404	0.0:0.0:0.8611:0.1389	.	330;369;117;263;290;331	B4DVN3;E7ESC7;B3KRN7;D6RIB6;Q7L5Y9-3;Q7L5Y9	.;.;.;.;.;MAEA_HUMAN	T	331;369;290;263;310;252;263;330;283	ENSP00000302830:A331T;ENSP00000422215:A369T;ENSP00000264750:A290T;ENSP00000411415:A252T;ENSP00000427512:A263T;ENSP00000426807:A330T;ENSP00000424436:A283T	ENSP00000264750:A290T	A	+	1	0	MAEA	1322301	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.493000	0.97960	1.265000	0.44215	0.655000	0.94253	GCC	MAEA	-	NULL	ENSG00000090316		0.612	MAEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEA	HGNC	protein_coding	OTTHUMT00000359511.1	-	0	50	0	G	NM_005882		1332301	1	tier1	-	no_errors	ENST00000303400	ensembl	human	known	74_37	missense	45.76	64	54	SNP	1.000	A	A	1332301	G	A	1332301	3	1	52	1	0	0	0	0	1	0	0	0	9189	1203	42	3	1021	3	MAEA	4	1332301	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	896533	1332301	189821975	203	12543											
CRIPAK	285464	genome.wustl.edu	37	chr4	1388569	1388569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctgctcacatgtgcCgatgtggagtgccacctgct	6	9	11	15	1	1	0	1	0	0	0	1	2	1	1	5	1	4	2	5	1	0	0	rs550621315|rs544489321	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:1388569C>T	ENST00000324803.4	+	1	3230	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	90					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TCACATGTGCCGATGTGGAGT	0.647																																																	0													250	218	229					4																	1388569		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"cysteine-rich PAK1inhibitor"			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.270C>T	4.37:g.1388569C>T			Q8NB03	Silent	SNP	smart_Post-SET_dom	p.A90	ENST00000324803.4	37	c.270	CCDS3349.1	4																																																																																			CRIPAK	-	NULL	ENSG00000179979		0.647	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIPAK	HGNC	protein_coding	OTTHUMT00000241607.2	-	0	170	0	C	NM_175918		1388569	1	tier1	-	no_errors	ENST00000324803	ensembl	human	known	74_37	silent	16.70	379	76	SNP	0.000	T	T	1388569	C	T	1388569	2	4	52	1	0	0	0	0	0	0	0	1	3884	639	23	1		1	CRIPAK	4	1388569	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	56268	1388569	189765707	204	12544											
RNF4	6047	genome.wustl.edu	37	chr4	2514166	2514168	+	Splice_Site	DEL	AAG	AAG	-																															atgtgacctcttaccttagaAagaagaagaccaaggaggaa																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:2514166_2514168delAAG	ENST00000511600.1	+	6	1731_1733	c.216_218delAAG	c.(214-219)gaaaga>gaa	p.R75del	RNF4_ENST00000511843.1_3'UTR|RNF4_ENST00000506706.1_Splice_Site_p.R75del|RNF4_ENST00000314289.8_Splice_Site_p.R75del|RNF4_ENST00000541204.1_Splice_Site_p.R75del|RNF4_ENST00000511859.1_Intron			P78317	RNF4_HUMAN	ring finger protein 4	75					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				TTACCTTAGAAAGAAGAAGACCA	0.532																																																	0																																										SO:0001630	splice_region_variant	0			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"RING-type (C3HC4) zinc fingers"	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.215-1AAG>-	4.37:g.2514172_2514174delAAG			B2R6D6|D6RF58|Q49AR8	In_Frame_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R75in_frame_del	ENST00000511600.1	37	c.216_218	CCDS47001.1	4																																																																																			RNF4	-	NULL	ENSG00000063978		0.532	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RNF4	HGNC	protein_coding	OTTHUMT00000360920.1		0	32	0	AAG	NM_002938	In_Frame_Del	2514168	1			no_errors	ENST00000314289	ensembl	human	known	74_37	in_frame_del	10.39	69	8	DEL	0.165:0.148:0.116	0	-	2514168	AAG	-	2514166	8	5	52	1	0	1	0	1	0	0	1	0	13537	28	1	0	234	0	RNF4	4	2514166	Splice_Site	DEL	AAG	TCGA-L5-A43J-01A-12D-A247-09	1125597	2514166	188640110	205	12545											
OTOP1	133060	genome.wustl.edu	37	chr4	4198967	4198967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttgccctgtaagaaacGgggaaggcggactgggcttg	8	7	18	8	3	0	1	0	0	0	1	0	3	0	3	1	6	2	3	1	6	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:4198967G>A	ENST00000296358.4	-	5	1618	c.1594C>T	c.(1594-1596)Cgt>Tgt	p.R532C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	532					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTAAGAAACGGGGAAGGCGG	0.502																																																	0													55	60	58					4																	4198967		2203	4300	6503	SO:0001583	missense	0			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1594C>T	4.37:g.4198967G>A	ENSP00000296358:p.Arg532Cys		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.R532C	ENST00000296358.4	37	c.1594	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041664	0.19748	.	.	ENSG00000163982	ENST00000296358	T	0.08720	3.06	4.7	-0.711	0.11230	.	2.205680	0.01648	N	0.024402	T	0.03827	0.0108	N	0.03608	-0.345	0.09310	N	1	B	0.20052	0.041	B	0.12837	0.008	T	0.33497	-0.9866	10	0.37606	T	0.19	-2.3047	2.5008	0.04633	0.1639:0.4193:0.2169:0.1999	.	532	Q7RTM1	OTOP1_HUMAN	C	532	ENSP00000296358:R532C	ENSP00000296358:R532C	R	-	1	0	OTOP1	4249868	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.428000	0.06991	-0.090000	0.12462	0.508000	0.49915	CGT	OTOP1	-	NULL	ENSG00000163982		0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	-	0	34	0	G	NM_177998		4198967	-1	tier1	rs137867656	no_errors	ENST00000296358	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A	A	4198967	G	A	4198967	3	1	52	1	0	0	0	0	1	0	0	0	11344	1116	39	1	252	1	OTOP1	4	4198967	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1684801	4198967	186955309	206	12546											
CRMP1	1400	genome.wustl.edu	37	chr4	5857915	5857915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctcccgaacgccatcgtAccagcttgtgatgtccacgt	7	10	8	16	4	0	1	0	1	0	0	4	2	3	1	5	0	3	2	5	0	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:5857915A>G	ENST00000397890.2	-	4	647	c.433T>C	c.(433-435)Tac>Cac	p.Y145H	CRMP1_ENST00000324989.7_Missense_Mutation_p.Y259H|CRMP1_ENST00000512574.1_Missense_Mutation_p.Y143H|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	145					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACGCCATCGTACCAGCTTGTG	0.547																																																	0													115	98	104					4																	5857915		2203	4300	6503	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.433T>C	4.37:g.5857915A>G	ENSP00000380987:p.Tyr145His		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.Y259H	ENST00000397890.2	37	c.775	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	a	7.485	0.649545	0.14516	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.89415	-2.51;-2.51;-2.51	3.09	0.474	0.16768	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.410728	0.24669	N	0.036578	T	0.61022	0.2314	N	0.00621	-1.32	0.35606	D	0.808234	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.14023	0.01;0.001;0.005;0.005	T	0.47315	-0.9127	10	0.21014	T	0.42	-6.7544	3.0175	0.06064	0.6074:0.0:0.2131:0.1795	.	259;143;145;82	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	H	259;145;145;143	ENSP00000321606:Y259H;ENSP00000380987:Y145H;ENSP00000425742:Y143H	ENSP00000321606:Y259H	Y	-	1	0	CRMP1	5908816	0.997000	0.39634	0.979000	0.43373	0.978000	0.69477	0.832000	0.27490	-0.065000	0.13021	-0.484000	0.04775	TAC	CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.547	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	-	0	62	0	A	NM_001313		5857915	-1	tier1	-	no_errors	ENST00000324989	ensembl	human	known	74_37	missense	70.00	24	56	SNP	1.000	G	G	5857915	A	G	5857915	3	3	52	1	0	0	0	0	1	0	0	0	3897	391	14	4	1329	4	CRMP1	4	5857915	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1658948	5857915	185296361	207	12547											
ACOX3	8310	genome.wustl.edu	37	chr4	8398737	8398737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgccgagtggctgagaagCgaagagcgatggccacggcc	10	3	17	11	5	0	2	0	1	0	2	0	7	0	2	3	3	2	1	3	3	2	0	rs528832606		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:8398737C>T	ENST00000356406.5	-	9	1060	c.983G>A	c.(982-984)cGc>cAc	p.R328H	ACOX3_ENST00000503233.1_Missense_Mutation_p.R328H|ACOX3_ENST00000413009.2_Missense_Mutation_p.R328H	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	328					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.R328H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GGCTGAGAAGCGAAGAGCGAT	0.577																																																	1	Substitution - Missense(1)	endometrium(1)											90	87	88					4																	8398737		2203	4300	6503	SO:0001583	missense	0			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"acyl-Coenzyme A oxidase 3, pristanoyl"			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.983G>A	4.37:g.8398737C>T	ENSP00000348775:p.Arg328His		Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.R328H	ENST00000356406.5	37	c.983	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931744	0.92389	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.73258	-0.73;-0.73;-0.73	5.0	5.0	0.66597	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.88134	0.6355	M	0.93939	3.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.972;0.988;0.993	D	0.91453	0.5183	10	0.87932	D	0	-29.8753	17.064	0.86555	0.0:1.0:0.0:0.0	.	328;328;328	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	H	328	ENSP00000413994:R328H;ENSP00000348775:R328H;ENSP00000421625:R328H	ENSP00000348775:R328H	R	-	2	0	ACOX3	8449637	1.000000	0.71417	0.076000	0.20297	0.919000	0.55068	6.713000	0.74686	2.308000	0.77769	0.609000	0.83330	CGC	ACOX3	-	pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000087008		0.577	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	-	0	54	0	C			8398737	-1	tier1	-	no_errors	ENST00000356406	ensembl	human	known	74_37	missense	60.47	34	52	SNP	0.997	T	T	8398737	C	T	8398737	3	4	52	1	0	0	0	0	1	0	0	0	160	768	27	1	1159	1	ACOX3	4	8398737	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2540822	8398737	182755539	208	12548											
BOD1L	259282	genome.wustl.edu	37	chr4	13606084	13606084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattctcatctgtttttaTaatatattcagaaactggct	13	17	4	7	0	3	1	2	0	2	1	4	1	3	1	0	1	2	2	0	1	6	8			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:13606084T>C	ENST00000040738.5	-	10	2575	c.2440A>G	c.(2440-2442)Ata>Gta	p.I814V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	814	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTGTTTTTATAATATATTCA	0.338																																																	0													64	56	59					4																	13606084		2203	4299	6502	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2440A>G	4.37:g.13606084T>C	ENSP00000040738:p.Ile814Val		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.I814V	ENST00000040738.5	37	c.2440	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023972	0.35701	.	.	ENSG00000038219	ENST00000040738	T	0.08008	3.14	5.42	4.17	0.49024	.	0.136830	0.33691	N	0.004642	T	0.08403	0.0209	L	0.59436	1.845	0.22903	N	0.998587	P	0.44090	0.826	B	0.39152	0.292	T	0.26087	-1.0113	10	0.29301	T	0.29	-10.4882	7.0072	0.24844	0.1774:0.0:0.1245:0.6981	.	814	Q8NFC6	BOD1L_HUMAN	V	814	ENSP00000040738:I814V	ENSP00000040738:I814V	I	-	1	0	BOD1L	13215182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.868000	0.39509	2.056000	0.61249	0.460000	0.39030	ATA	BOD1L1	-	NULL	ENSG00000038219		0.338	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	46	0	T	NM_148894		13606084	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	68.89	14	31	SNP	1.000	C	C	13606084	T	C	13606084	3	2	52	1	0	0	0	0	1	0	0	0	1485	1406	49	4	6783	4	BOD1L	4	13606084	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	5207347	13606084	177548192	209	12549											
CPEB2	132864	genome.wustl.edu	37	chr4	15060881	15060881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcagcctttggatccccGaaaaacaatttttgttggag	10	14	8	9	1	1	0	1	0	1	0	3	3	2	2	3	2	2	1	3	2	3	5	rs374594133		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:15060881G>A	ENST00000507071.1	+	9	1403	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q	CPEB2_ENST00000442003.2_Missense_Mutation_p.R857Q|CPEB2_ENST00000259997.5_Missense_Mutation_p.R447Q|CPEB2_ENST00000541112.1_Missense_Mutation_p.R876Q|CPEB2_ENST00000382395.3_Missense_Mutation_p.R417Q|CPEB2_ENST00000345451.3_Missense_Mutation_p.R409Q|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000538197.1_Missense_Mutation_p.R884Q|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.R412Q			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	439					cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTGGATCCCCGAAAAACAATT	0.343																																																	0								G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	111	115	114		2570,2651,2561,2546,2627,2537	5.7	1	4		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	CPEB2	NM_001177381.1,NM_001177382.1,NM_001177383.1,NM_001177384.1,NM_182485.2,NM_182646.2	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	857/1008,884/1035,854/1005,849/1000,876/1027,846/997	15060881	1,13005	2203	4300	6503	SO:0001583	missense	0			AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"RNA binding motif (RRM) containing"	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1316G>A	4.37:g.15060881G>A	ENSP00000424084:p.Arg439Gln		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R884Q	ENST00000507071.1	37	c.2651		4	.	.	.	.	.	.	.	.	.	.	G	36	5.604348	0.96626	0.0	1.16E-4	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.67	5.67	0.87782	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.45558	0.1348	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.87578	0.975;0.992;0.993;0.995;0.998;0.974	T	0.31392	-0.9945	10	0.87932	D	0	-7.9725	19.7607	0.96316	0.0:0.0:1.0:0.0	.	412;417;857;884;409;439	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	Q	884;876;857;439;409;417;412;447;426;92	ENSP00000443985:R884Q;ENSP00000437884:R876Q;ENSP00000414270:R857Q;ENSP00000424084:R439Q;ENSP00000334058:R409Q;ENSP00000371832:R417Q;ENSP00000371838:R412Q;ENSP00000259997:R447Q;ENSP00000423890:R92Q	ENSP00000259997:R447Q	R	+	2	0	CPEB2	14669979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.662000	0.90505	0.591000	0.81541	CGA	CPEB2	-	NULL	ENSG00000137449		0.343	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	CPEB2	HGNC	protein_coding	OTTHUMT00000207349.2	-	0	51	0	G	XM_059607		15060881	1	tier1	-	no_errors	ENST00000538197	ensembl	human	known	74_37	missense	20.69	69	18	SNP	1.000	A	A	15060881	G	A	15060881	3	1	52	1	0	0	0	0	1	0	0	0	3808	1058	37	1	2698	1	CPEB2	4	15060881	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1454797	15060881	176093395	210	12550											
GPR125	166647	genome.wustl.edu	37	chr4	22414846	22414846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggagtagcactgaatcgTagtgatattttcatctgaat	13	13	10	5	1	2	3	1	3	1	0	3	4	2	4	0	1	1	3	0	1	6	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:22414846T>C	ENST00000334304.5	-	14	2460	c.2191A>G	c.(2191-2193)Acg>Gcg	p.T731A	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	731	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTGAATCGTAGTGATATTT	0.398																																																	0													209	207	208					4																	22414846		2203	4300	6503	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2191A>G	4.37:g.22414846T>C	ENSP00000334952:p.Thr731Ala		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.T731A	ENST00000334304.5	37	c.2191	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	T	13.50	2.254835	0.39896	.	.	ENSG00000152990	ENST00000334304	T	0.69561	-0.41	5.6	4.43	0.53597	GPS domain (3);	0.098333	0.64402	N	0.000002	T	0.70219	0.3199	M	0.65320	2	0.80722	D	1	P;B	0.48503	0.911;0.02	P;B	0.50617	0.646;0.04	T	0.69450	-0.5142	10	0.44086	T	0.13	-20.4966	11.223	0.48866	0.0:0.0713:0.0:0.9287	.	588;731	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	A	731	ENSP00000334952:T731A	ENSP00000334952:T731A	T	-	1	0	GPR125	22023944	1.000000	0.71417	0.061000	0.19648	0.115000	0.19883	3.754000	0.55189	0.961000	0.38030	0.528000	0.53228	ACG	GPR125	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000152990		0.398	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	-	0	63	0	T			22414846	-1	tier1	-	no_errors	ENST00000334304	ensembl	human	known	74_37	missense	15.48	71	13	SNP	0.940	C	C	22414846	T	C	22414846	3	2	52	1	0	0	0	0	1	0	0	0	6665	1638	57	4	1798	4	GPR125	4	22414846	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	7353965	22414846	168739430	211	12551											
WDR19	57728	genome.wustl.edu	37	chr4	39230210	39230212	+	In_Frame_Del	DEL	AAC	AAC	-																															aaacacagagtggaaaagtaAacaacatctaccttagcacc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAC	AAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:39230210_39230212delAAC	ENST00000399820.3	+	17	2036_2038	c.1882_1884delAAC	c.(1882-1884)aacdel	p.N629del	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_In_Frame_Del_p.N469del	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	629					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						TGGAAAAGTAAACAACATCTACC	0.433																																																	0																																										SO:0001651	inframe_deletion	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1882_1884delAAC	4.37:g.39230213_39230215delAAC	ENSP00000382717:p.Asn629del		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	In_Frame_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.N629in_frame_del	ENST00000399820.3	37	c.1882_1884	CCDS47042.1	4																																																																																			WDR19	-	NULL	ENSG00000157796		0.433	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1		0	41	0	AAC			39230212	1	tier1		no_errors	ENST00000399820	ensembl	human	known	74_37	in_frame_del	8.43	76	7	DEL	1.000:1.000:1.000	-	-	39230212	AAC	-	39230210	7	5	52	1	0	1	0	1	0	0	0	0	17328	14	1	0	1948	0	WDR19	4	39230210	In_Frame_Del	DEL	AAC	TCGA-L5-A43J-01A-12D-A247-09	16815364	39230210	151924066	212	12552											
GUF1	60558	genome.wustl.edu	37	chr4	44690095	44690095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgcaaataggagatacatTatgtttacataagcaaccag	17	9	8	7	1	0	1	0	0	0	1	0	2	0	1	1	1	5	3	1	1	7	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:44690095T>C	ENST00000281543.5	+	9	1204	c.1010T>C	c.(1009-1011)tTa>tCa	p.L337S	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GGAGATACATTATGTTTACAT	0.398																																																	0													177	176	176					4																	44690095		2203	4300	6503	SO:0001583	missense	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1010T>C	4.37:g.44690095T>C	ENSP00000281543:p.Leu337Ser			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.L337S	ENST00000281543.5	37	c.1010	CCDS3468.1	4	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518670	0.85495	.	.	ENSG00000151806	ENST00000281543	T	0.47869	0.83	5.58	5.58	0.84498	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.64402	D	0.000001	T	0.72471	0.3464	M	0.90252	3.1	0.58432	D	0.999999	D	0.67145	0.996	D	0.63957	0.92	T	0.79468	-0.1791	10	0.87932	D	0	-8.3568	14.9256	0.70875	0.0:0.0:0.0:1.0	.	337	Q8N442	GUF1_HUMAN	S	337	ENSP00000281543:L337S	ENSP00000281543:L337S	L	+	2	0	GUF1	44384852	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.687000	0.84139	2.108000	0.64289	0.528000	0.53228	TTA	GUF1	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_EF-4	ENSG00000151806		0.398	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3	-	0	59	0	T	NM_021927		44690095	1	tier1	-	no_errors	ENST00000281543	ensembl	human	known	74_37	missense	15.12	73	13	SNP	1.000	C	C	44690095	T	C	44690095	3	2	52	1	0	0	0	0	1	0	0	0	6926	1764	61	4	1044	4	GUF1	4	44690095	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	5459885	44690095	146464181	213	12553											
SRP72	6731	genome.wustl.edu	37	chr4	57333820	57333820	+	Frame_Shift_Del	DEL	G	G	-																															agatggcgagcggcggcagcGggggggtgtcagtacctgcg																								rs17524437	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:57333820delG	ENST00000342756.5	+	1	740	c.19delG	c.(19-21)gggfs	p.G8fs	SRP72_ENST00000504757.1_Frame_Shift_Del_p.G8fs|SRP72_ENST00000510663.1_Frame_Shift_Del_p.G8fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	8					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CGGCGGCAGCGGGGGGGTGTC	0.642																																																	0													14	16	15					4																	57333820		2193	4293	6486	SO:0001589	frameshift_variant	0			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"Tetratricopeptide (TTC) repeat domain containing"	11303	protein-coding gene	gene with protein product		602122	"signal recognition particle 72kD"			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.19delG	4.37:g.57333820delG	ENSP00000342181:p.Gly8fs		G5E9Z8|Q7Z3C0	Frame_Shift_Del	DEL	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V9fs	ENST00000342756.5	37	c.19	CCDS3506.1	4																																																																																			SRP72	-	NULL	ENSG00000174780		0.642	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7		0	15	0	G			57333820	1	tier1		no_errors	ENST00000342756	ensembl	human	known	74_37	frame_shift_del	52.94	16	18	DEL	0.920	-	-	57333820	G	-	57333820	7	5	52	1	0	1	0	1	0	0	0	0	15204	1116	39	0	21	0	SRP72	4	57333820	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	12643725	57333820	133820456	214	12554											
UBA6	55236	genome.wustl.edu	37	chr4	68499110	68499110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttgctaattctacacActgggaccaatttctaggtc	11	14	6	10	0	3	0	0	0	3	0	4	1	3	1	1	2	2	1	1	2	5	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:68499110A>G	ENST00000322244.5	-	23	2154	c.2095T>C	c.(2095-2097)Tgt>Cgt	p.C699R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	699					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AATTCTACACACTGGGACCAA	0.333																																																	0													96	102	100					4																	68499110		2203	4300	6503	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.2095T>C	4.37:g.68499110A>G	ENSP00000313454:p.Cys699Arg		A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.C699R	ENST00000322244.5	37	c.2095	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168420	0.78339	.	.	ENSG00000033178	ENST00000322244	T	0.69175	-0.38	5.3	5.3	0.74995	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88269	0.2928	10	0.87932	D	0	-1.8855	15.2479	0.73521	1.0:0.0:0.0:0.0	.	699	A0AVT1	UBA6_HUMAN	R	699	ENSP00000313454:C699R	ENSP00000313454:C699R	C	-	1	0	UBA6	68181705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.460000	0.90369	2.010000	0.58986	0.377000	0.23210	TGT	UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.333	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	-	0	32	0	A	NM_018227		68499110	-1	tier1	-	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	G	G	68499110	A	G	68499110	3	3	52	1	0	0	0	0	1	0	0	0	16881	159	6	4	1107	4	UBA6	4	68499110	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	11165290	68499110	122655166	215	12555											
WDFY3	23001	genome.wustl.edu	37	chr4	85658516	85658516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttttatgagaagctgaCgccctagtaaacaaacaaac	16	8	7	10	1	0	2	0	2	0	1	0	3	0	2	1	0	5	3	1	0	7	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:85658516C>T	ENST00000295888.4	-	41	6985	c.6578G>A	c.(6577-6579)cGt>cAt	p.R2193H	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2193H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2193					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAGAAGCTGACGCCCTAGTaa	0.323																																																	0													61	60	60					4																	85658516		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6578G>A	4.37:g.85658516C>T	ENSP00000295888:p.Arg2193His		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2193H	ENST00000295888.4	37	c.6578	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592526	0.66219	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64085	-0.08;-0.08	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	L	0.27053	0.805	0.80722	D	1	B	0.31256	0.316	B	0.16722	0.016	T	0.43734	-0.9373	10	0.12430	T	0.62	.	18.5904	0.91210	0.0:1.0:0.0:0.0	.	2193	Q8IZQ1	WDFY3_HUMAN	H	2193	ENSP00000318466:R2193H;ENSP00000295888:R2193H	ENSP00000295888:R2193H	R	-	2	0	WDFY3	85877540	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.463000	0.80869	2.392000	0.81423	0.563000	0.77884	CGT	WDFY3	-	NULL	ENSG00000163625		0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	23	0	C	NM_014991		85658516	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	60.00	4	6	SNP	1.000	T	T	85658516	C	T	85658516	3	4	52	1	0	0	0	0	1	0	0	0	17319	536	19	1	4114	1	WDFY3	4	85658516	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	17159406	85658516	105495760	216	12556											
GPRIN3	285513	genome.wustl.edu	37	chr4	90169281	90169281	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctttttcttatctcCtggagtgagtcctacctgag	7	15	9	10	0	2	2	0	2	2	0	4	3	3	3	3	1	3	2	3	1	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:90169281C>A	ENST00000609438.1	-	2	2499	c.1981G>T	c.(1981-1983)Gga>Tga	p.G661*	GPRIN3_ENST00000333209.4_Nonsense_Mutation_p.G661*	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	661										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTTATCTCCTGGAGTGAGT	0.567																																																	0													62	62	62					4																	90169281		2203	4300	6503	SO:0001587	stop_gained	0			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1981G>T	4.37:g.90169281C>A	ENSP00000476603:p.Gly661*		Q8IVE4	Nonsense_Mutation	SNP	NULL	p.G661*	ENST00000609438.1	37	c.1981	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.984007	0.98594	.	.	ENSG00000185477	ENST00000333209	.	.	.	5.55	5.55	0.83447	.	0.000000	0.32190	N	0.006441	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.9671	17.675	0.88228	0.0:1.0:0.0:0.0	.	.	.	.	X	661	.	ENSP00000328672:G661X	G	-	1	0	GPRIN3	90388304	0.037000	0.19845	0.844000	0.33320	0.003000	0.03518	1.827000	0.39102	2.597000	0.87782	0.655000	0.94253	GGA	GPRIN3	-	NULL	ENSG00000185477		0.567	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	-	0	53	0	C	NM_198281		90169281	-1	tier1	-	no_errors	ENST00000333209	ensembl	human	known	74_37	nonsense	47.73	23	21	SNP	0.981	A	A	90169281	C	A	90169281	4	1	52	1	0	0	0	0	0	1	0	0	6758	690	24	3	353	3	GPRIN3	4	90169281	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4510765	90169281	100984995	217	12557											
FAM190A	401145	genome.wustl.edu	37	chr4	91701607	91701607	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttacagaccacataccctagGgaattctgaaaacctgacta	15	9	6	11	0	1	3	0	2	1	1	1	4	1	4	3	1	3	0	3	1	7	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:91701607G>T	ENST00000509176.1	+	8	2298				CCSER1_ENST00000432775.2_Missense_Mutation_p.R675S|CCSER1_ENST00000333691.8_Intron|CCSER1_ENST00000504150.1_3'UTR	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1																		CATACCCTAGGGAATTCTGAA	0.348																																																	0													57	54	55					4																	91701607		1819	4074	5893	SO:0001627	intron_variant	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2011-35306G>T	4.37:g.91701607G>T			Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.R675S	ENST00000509176.1	37	c.2025	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	7.224	0.597904	0.13939	.	.	ENSG00000184305	ENST00000432775	T	0.43688	0.94	2.64	1.78	0.24846	.	.	.	.	.	T	0.29882	0.0747	.	.	.	0.18873	N	0.999987	B	0.18166	0.026	B	0.19391	0.025	T	0.27905	-1.0060	8	0.66056	D	0.02	.	5.6531	0.17627	0.1581:0.0:0.8419:0.0	.	675	Q9C0I3-2	.	S	675	ENSP00000389283:R675S	ENSP00000389283:R675S	R	+	3	2	FAM190A	91920630	0.005000	0.15991	0.197000	0.23402	0.183000	0.23260	0.093000	0.15086	0.668000	0.31126	0.585000	0.79938	AGG	CCSER1	-	NULL	ENSG00000184305		0.348	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0	37	0	G	NM_001145065		91701607	1	tier1	-	no_errors	ENST00000432775	ensembl	human	known	74_37	missense	50.00	7	7	SNP	0.264	T	T	91701607	G	T	91701607	1	4	52	0	1	0	0	0	0	0	0	0	5540	1223	43	3		3	FAM190A	4	91701607	Intron	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1532326	91701607	99452669	218	12558											
ADH7	131	genome.wustl.edu	37	chr4	100340170	100340170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacatcccttccatgtgcGtccagtgaagagcaacatcg	11	8	9	13	2	0	2	0	1	0	1	4	3	3	2	3	0	3	1	3	0	2	1	rs367907552		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:100340170G>A	ENST00000209665.4	-	7	1210	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	ADH7_ENST00000437033.2_Missense_Mutation_p.R312C|ADH7_ENST00000476959.1_Missense_Mutation_p.R332C|ADH7_ENST00000482593.1_Missense_Mutation_p.R255C	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	324					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TTCCATGTGCGTCCAGTGAAG	0.542																																																	0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	146	119	128		970,994	3.7	0	4		128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ADH7	NM_000673.4,NM_001166504.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	324/387,332/395	100340170	1,13005	2203	4300	6503	SO:0001583	missense	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.970C>T	4.37:g.100340170G>A	ENSP00000209665:p.Arg324Cys		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.R324C	ENST00000209665.4	37	c.970	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375677	0.61735	0.0	1.16E-4	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	4.53	3.69	0.42338	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.323066	0.33235	N	0.005122	T	0.54191	0.1843	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68603	-0.5365	10	0.87932	D	0	-25.7449	12.0455	0.53477	0.0847:0.0:0.9153:0.0	.	324	P40394	ADH7_HUMAN	C	312;324;255;332	ENSP00000414254:R312C;ENSP00000209665:R324C;ENSP00000420613:R255C;ENSP00000420269:R332C	ENSP00000209665:R324C	R	-	1	0	ADH7	100559193	0.971000	0.33674	0.003000	0.11579	0.451000	0.32288	3.703000	0.54808	1.123000	0.41961	0.655000	0.94253	CGC	ADH7	-	pfam_ADH_C	ENSG00000196344		0.542	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		-	0	52	0	G	NM_000673		100340170	-1	tier1	-	no_errors	ENST00000209665	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.996	A	A	100340170	G	A	100340170	3	1	52	1	0	0	0	0	1	0	0	0	313	1145	40	1	202	1	ADH7	4	100340170	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	8638563	100340170	90814106	219	12559											
CENPE	1062	genome.wustl.edu	37	chr4	104115550	104115550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcctaaagatggtatgaGaacgactgcttctttgattc	11	13	8	9	1	1	3	0	2	1	2	3	5	2	3	2	1	2	2	2	1	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:104115550G>A	ENST00000265148.3	-	7	697	c.608C>T	c.(607-609)tCt>tTt	p.S203F	CENPE_ENST00000380026.3_Missense_Mutation_p.S203F	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATGGTATGAGAACGACTGCT	0.323																																																	0													103	106	105					4																	104115550		2203	4299	6502	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.608C>T	4.37:g.104115550G>A	ENSP00000265148:p.Ser203Phe		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S203F	ENST00000265148.3	37	c.608	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134355	0.77662	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705;ENST00000514974	D;D;D;T	0.88124	-2.34;-2.34;-2.34;1.58	5.24	4.38	0.52667	Kinesin, motor domain (5);	.	.	.	.	D	0.96756	0.8941	H	0.99668	4.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98799	1.0739	9	0.87932	D	0	.	16.1281	0.81408	0.0:0.1339:0.8661:0.0	.	203;203	Q02224-3;Q02224	.;CENPE_HUMAN	F	203;203;203;203;163	ENSP00000265148:S203F;ENSP00000369365:S203F;ENSP00000423981:S203F;ENSP00000426023:S163F	ENSP00000265148:S203F	S	-	2	0	CENPE	104334999	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.834000	0.92094	1.312000	0.45043	0.591000	0.81541	TCT	CENPE	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000138778		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0	38	0	G			104115550	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	72.22	5	13	SNP	1.000	A	A	104115550	G	A	104115550	3	1	52	1	0	0	0	0	1	0	0	0	3237	942	33	3	7669	3	CENPE	4	104115550	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3775380	104115550	87038726	220	12560											
CFI	3426	genome.wustl.edu	37	chr4	110670692	110670692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccacaattcgtttccttCgaatgtgcattctgttttta	7	18	5	11	2	1	0	0	0	1	0	5	1	3	0	2	0	1	3	2	0	3	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:110670692C>T	ENST00000394634.2	-	9	1214	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	CFI_ENST00000394635.3_Missense_Mutation_p.R344Q|CFI_ENST00000512148.1_Missense_Mutation_p.R329Q	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	336					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCGTTTCCTTCGAATGTGCAT	0.388																																																	0													143	133	136					4																	110670692		2203	4300	6503	SO:0001583	missense	0			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"Complement system"	5394	protein-coding gene	gene with protein product	"Konglutinogen-activating factor", "C3b-inactivator"	217030	"I factor (complement)"	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1007G>A	4.37:g.110670692C>T	ENSP00000378130:p.Arg336Gln		O60442	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.R336Q	ENST00000394634.2	37	c.1007	CCDS34049.1	4	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493512	0.64186	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104;ENST00000512148;ENST00000536228	D;D;D	0.92911	-3.13;-3.13;-3.13	5.59	5.59	0.84812	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	L	0.55213	1.73	0.51233	D	0.999914	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.966;0.999	D	0.95178	0.8296	10	0.66056	D	0.02	-21.4629	17.8252	0.88662	0.0:1.0:0.0:0.0	.	344;329;336	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	Q	344;336;336;329;318	ENSP00000378131:R344Q;ENSP00000378130:R336Q;ENSP00000427438:R329Q	ENSP00000378130:R336Q	R	-	2	0	CFI	110890141	1.000000	0.71417	0.768000	0.31515	0.010000	0.07245	5.063000	0.64332	2.633000	0.89246	0.558000	0.71614	CGA	CFI	-	superfamily_Trypsin-like_Pept_dom	ENSG00000205403		0.388	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	CFI	HGNC	protein_coding		-	0	24	0	C	NM_000204		110670692	-1	tier1	-	no_errors	ENST00000394634	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.999	T	T	110670692	C	T	110670692	3	4	52	1	0	0	0	0	1	0	0	0	3296	884	31	1	764	1	CFI	4	110670692	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6555142	110670692	80483584	221	12561											
C4orf21	55345	genome.wustl.edu	37	chr4	113539992	113539992	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgaaggaatttctaatttTacttcctgattccaggatgg	12	15	8	6	0	1	2	0	2	1	0	3	4	3	4	2	3	1	0	2	3	5	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:113539992T>A	ENST00000505019.1	-	6	1331	c.1206A>T	c.(1204-1206)gtA>gtT	p.V402V	C4orf21_ENST00000309071.5_Silent_p.V402V|C4orf21_ENST00000445203.2_Silent_p.V371V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		402						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTCTAATTTTACTTCCTGAT	0.343																																																	0													91	92	91					4																	113539992		2203	4299	6502	SO:0001819	synonymous_variant	0																														ENST00000505019.1:c.1206A>T	4.37:g.113539992T>A			B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.V402	ENST00000505019.1	37	c.1206		4																																																																																			C4orf21	-	NULL	ENSG00000138658		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0	39	0	T			113539992	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.000	A	A	113539992	T	A	113539992	2	1	52	1	0	0	0	0	0	0	0	1	2261	1741	61	5		5	C4orf21	4	113539992	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2869300	113539992	77614284	222	12562											
PDE5A	8654	genome.wustl.edu	37	chr4	120484001	120484001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacggagcaatcttcaTccactatgaaaatggtgcat	13	11	7	10	1	3	1	2	1	1	0	4	2	4	2	1	2	3	2	1	2	5	3	rs148453628		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:120484001T>C	ENST00000354960.3	-	6	1437	c.1118A>G	c.(1117-1119)gAt>gGt	p.D373G	PDE5A_ENST00000264805.5_Missense_Mutation_p.D331G|PDE5A_ENST00000394439.1_Missense_Mutation_p.D321G	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	373	GAF 2.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GCAATCTTCATCCACTATGAA	0.308																																																	0													79	86	84					4																	120484001		2203	4300	6503	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1118A>G	4.37:g.120484001T>C	ENSP00000347046:p.Asp373Gly		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.D373G	ENST00000354960.3	37	c.1118	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423200	0.83559	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.75367	-0.93;-0.93;-0.93	5.3	5.3	0.74995	GAF (2);	0.205916	0.47852	D	0.000207	D	0.85869	0.5797	M	0.85630	2.765	0.80722	D	1	D;P	0.53745	0.962;0.852	P;P	0.60068	0.868;0.686	D	0.88428	0.3033	10	0.87932	D	0	.	15.2108	0.73222	0.0:0.0:0.0:1.0	.	373;331	O76074;O76074-2	PDE5A_HUMAN;.	G	373;321;331	ENSP00000347046:D373G;ENSP00000377957:D321G;ENSP00000264805:D331G	ENSP00000264805:D331G	D	-	2	0	PDE5A	120703449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.364000	0.79526	2.130000	0.65690	0.528000	0.53228	GAT	PDE5A	-	pfam_GAF,smart_GAF	ENSG00000138735		0.308	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	-	0	56	0	T	NM_001083		120484001	-1	tier1	-	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	C	C	120484001	T	C	120484001	3	2	52	1	0	0	0	0	1	0	0	0	11683	1435	50	4	1573	4	PDE5A	4	120484001	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	6944009	120484001	70670275	223	12563											
KIAA1109	84162	genome.wustl.edu	37	chr4	123131023	123131023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcatgcttacaattgAttatacatggcatccaattt	13	15	6	7	0	1	1	1	1	0	0	2	1	2	1	1	1	3	2	1	1	6	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:123131023A>T	ENST00000264501.4	+	19	2355	c.1982A>T	c.(1981-1983)gAt>gTt	p.D661V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.D661V|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.D661V			Q2LD37	K1109_HUMAN	KIAA1109	661					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTACAATTGATTATACATGG	0.348																																																	0													116	109	111					4																	123131023		1879	4122	6001	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1982A>T	4.37:g.123131023A>T	ENSP00000264501:p.Asp661Val		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.D661V	ENST00000264501.4	37	c.1982	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.190714|4.190714	0.78789|0.78789	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.24350|.	2.45;2.45;1.86|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.118777|.	0.30277|.	U|.	0.009990|.	T|.	0.60983|.	0.2311|.	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;P|.	0.76494|.	0.999;0.954|.	D;P|.	0.68192|.	0.956;0.617|.	T|.	0.57027|.	-0.7881|.	10|.	0.51188|.	T|.	0.08|.	.|.	16.2578|16.2578	0.82526|0.82526	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	661;661|.	Q2LD37-5;Q2LD37|.	.;K1109_HUMAN|.	V|C	661|493	ENSP00000264501:D661V;ENSP00000373390:D661V;ENSP00000389925:D661V|.	ENSP00000264501:D661V|.	D|X	+|+	2|3	0|0	KIAA1109|KIAA1109	123350473|123350473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.206000|9.206000	0.95056|0.95056	2.245000|2.245000	0.73994|0.73994	0.482000|0.482000	0.46254|0.46254	GAT|TGA	KIAA1109	-	NULL	ENSG00000138688		0.348	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	60	0	A	NM_020797		123131023	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	T	T	123131023	A	T	123131023	3	4	52	1	0	0	0	0	1	0	0	0	8235	333	12	5	2048	5	KIAA1109	4	123131023	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2647022	123131023	68023253	224	12564											
ADAD1	132612	genome.wustl.edu	37	chr4	123342535	123342535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaagctggtacatatcAtgcagctaaggtaagtcctt	12	12	9	8	0	1	1	1	1	0	0	2	1	2	1	1	2	4	5	1	2	5	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:123342535A>G	ENST00000296513.2	+	12	1792	c.1607A>G	c.(1606-1608)cAt>cGt	p.H536R	ADAD1_ENST00000388724.2_Missense_Mutation_p.H525R|ADAD1_ENST00000388725.2_Missense_Mutation_p.H518R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	536	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGTACATATCATGCAGCTAAG	0.338																																																	0													66	64	65					4																	123342535		2203	4300	6503	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1607A>G	4.37:g.123342535A>G	ENSP00000296513:p.His536Arg		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.H536R	ENST00000296513.2	37	c.1607	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	A	8.883	0.952058	0.18431	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93076	-3.16;-3.16;-3.16	4.93	3.66	0.41972	Adenosine deaminase/editase (3);	0.178290	0.48767	D	0.000164	D	0.83248	0.5213	N	0.13140	0.3	0.36159	D	0.848002	B;B	0.21688	0.004;0.059	B;B	0.17098	0.012;0.017	T	0.78583	-0.2148	10	0.21540	T	0.41	-20.6261	6.0051	0.19541	0.7697:0.0:0.0826:0.1477	.	525;536	Q96M93-2;Q96M93	.;ADAD1_HUMAN	R	536;525;518	ENSP00000296513:H536R;ENSP00000373376:H525R;ENSP00000373377:H518R	ENSP00000296513:H536R	H	+	2	0	ADAD1	123561985	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.261000	0.51530	1.848000	0.53677	0.528000	0.53228	CAT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.338	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0	35	0	A	NM_139243		123342535	1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	G	G	123342535	A	G	123342535	3	3	52	1	0	0	0	0	1	0	0	0	231	217	8	4	1645	4	ADAD1	4	123342535	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	211512	123342535	67811741	225	12565											
SPATA5	166378	genome.wustl.edu	37	chr4	123855285	123855285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaccaggcaactttctgtAttgtacattctatggacgac	10	15	7	9	1	2	0	0	0	2	0	2	2	2	1	1	2	3	3	1	2	5	8			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:123855285A>G	ENST00000274008.4	+	5	608	c.539A>G	c.(538-540)tAt>tGt	p.Y180C	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	180					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AACTTTCTGTATTGTACATTC	0.378																																																	0													69	71	71					4																	123855285		2203	4300	6503	SO:0001583	missense	0			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"ATPases / AAA-type"	18119	protein-coding gene	gene with protein product	"ATPase family gene 2 homolog (S. cerevisiae)"	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.539A>G	4.37:g.123855285A>G	ENSP00000274008:p.Tyr180Cys		C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.Y180C	ENST00000274008.4	37	c.539	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	A	14.62	2.589494	0.46214	.	.	ENSG00000145375	ENST00000274008	D	0.94280	-3.39	5.62	4.4	0.53042	.	0.410133	0.26708	N	0.022905	D	0.92280	0.7551	L	0.44542	1.39	0.20975	N	0.999816	D;D	0.69078	0.968;0.997	P;P	0.57324	0.473;0.818	D	0.84965	0.0879	10	0.45353	T	0.12	-22.4104	5.3898	0.16237	0.534:0.3242:0.1418:0.0	.	180;180	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	C	180	ENSP00000274008:Y180C	ENSP00000274008:Y180C	Y	+	2	0	SPATA5	124074735	0.778000	0.28640	0.983000	0.44433	0.995000	0.86356	1.624000	0.37018	1.023000	0.39654	0.533000	0.62120	TAT	SPATA5	-	NULL	ENSG00000145375		0.378	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	-	0	43	0	A	NM_145207		123855285	1	tier1	-	no_errors	ENST00000274008	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.268	G	G	123855285	A	G	123855285	3	3	52	1	0	0	0	0	1	0	0	0	15058	449	16	4	557	4	SPATA5	4	123855285	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	512750	123855285	67298991	226	12566											
INTU	27152	genome.wustl.edu	37	chr4	128605591	128605591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcgtctaaggaacatGatagaaaatgtcatccaaac	15	10	6	10	1	2	2	1	1	1	1	5	3	4	3	2	1	2	0	2	1	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:128605591G>T	ENST00000335251.6	+	7	1312	c.1209G>T	c.(1207-1209)atG>atT	p.M403I		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	403					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAAGGAACATGATAGAAAATG	0.279																																																	0													109	107	108					4																	128605591		2201	4300	6501	SO:0001583	missense	0			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1209G>T	4.37:g.128605591G>T	ENSP00000334003:p.Met403Ile		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M403I	ENST00000335251.6	37	c.1209	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	G	8.340	0.828504	0.16749	.	.	ENSG00000164066	ENST00000335251	T	0.32753	1.44	4.48	4.48	0.54585	.	0.146878	0.64402	D	0.000010	T	0.24547	0.0595	N	0.25144	0.715	0.80722	D	1	B	0.23185	0.081	B	0.26614	0.071	T	0.04796	-1.0926	10	0.33141	T	0.24	-1.747	17.3652	0.87362	0.0:0.0:1.0:0.0	.	403	Q9ULD6	PDZD6_HUMAN	I	403	ENSP00000334003:M403I	ENSP00000334003:M403I	M	+	3	0	INTU	128825041	1.000000	0.71417	0.816000	0.32577	0.304000	0.27724	6.994000	0.76251	2.304000	0.77564	0.591000	0.81541	ATG	INTU	-	NULL	ENSG00000164066		0.279	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2		0	45	0	G	XM_371707		128605591	1			no_errors	ENST00000335251	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	128605591	G	T	128605591	3	4	52	1	0	0	0	0	1	0	0	0	7813	1290	45	3	1235	3	INTU	4	128605591	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4750306	128605591	62548685	227	12567											
C4orf29	80167	genome.wustl.edu	37	chr4	128949844	128949844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatacctctaagatgaagcGcttcaatcaaacactttcaa	16	10	5	10	1	4	3	3	1	1	2	4	3	4	3	1	0	3	1	1	0	6	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:128949844G>A	ENST00000444616.1	+	10	1161	c.914G>A	c.(913-915)cGc>cAc	p.R305H	C4orf29_ENST00000398965.1_Missense_Mutation_p.R305H|C4orf29_ENST00000388795.5_Missense_Mutation_p.R257H			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	305						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AAGATGAAGCGCTTCAATCAA	0.413																																																	0													87	86	87					4																	128949844		1909	4123	6032	SO:0001583	missense	0			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.914G>A	4.37:g.128949844G>A	ENSP00000397229:p.Arg305His		A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	pfam_DUF2048	p.R305H	ENST00000444616.1	37	c.914		4	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253828	0.22965	.	.	ENSG00000164074	ENST00000454347;ENST00000398961;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758;ENST00000437077	.	.	.	4.87	2.03	0.26663	.	1.208480	0.05354	N	0.532391	T	0.29190	0.0726	N	0.14661	0.345	0.09310	N	0.999998	P;P	0.46912	0.886;0.637	P;B	0.48030	0.564;0.333	T	0.22836	-1.0205	9	0.44086	T	0.13	-4.1555	6.2946	0.21079	0.0748:0.2525:0.5553:0.1174	.	257;305	B7WP89;Q0P651	.;CD029_HUMAN	H	305;136;305;305;257;223;212	.	ENSP00000373447:R257H	R	+	2	0	C4orf29	129169294	0.989000	0.36119	0.112000	0.21494	0.174000	0.22865	0.991000	0.29654	0.629000	0.30376	-0.145000	0.13849	CGC	C4orf29	-	pfam_DUF2048	ENSG00000164074		0.413	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	-	0	20	0	G	NM_001039717		128949844	1	tier1	-	no_errors	ENST00000398965	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.053	A	A	128949844	G	A	128949844	3	1	52	1	0	0	0	0	1	0	0	0	2266	1087	38	1	948	1	C4orf29	4	128949844	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	344253	128949844	62204432	228	12568											
SCOC	60592	genome.wustl.edu	37	chr4	141302186	141302186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaaccaagttcttggAcaatatatagaaaatctcat	18	11	5	7	0	3	2	2	0	2	2	4	3	3	3	1	1	1	1	1	1	9	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:141302186A>G	ENST00000608372.1	+	4	435	c.408A>G	c.(406-408)ggA>ggG	p.G136G	SCOC_ENST00000394201.4_Silent_p.G59G|SCOC_ENST00000510586.1_Silent_p.G59G|SCOC_ENST00000338517.4_Silent_p.G99G|SCOC_ENST00000506597.1_Silent_p.G108G|SCOC_ENST00000512749.1_Silent_p.G59G|SCOC_ENST00000394203.3_Silent_p.G99G|SCOC_ENST00000506322.1_Silent_p.G59G|SCOC_ENST00000502535.1_Silent_p.G59G|SCOC_ENST00000394205.3_Silent_p.G99G			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	136					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAGTTCTTGGACAATATATAG	0.323																																																	0													49	54	53					4																	141302186		2203	4298	6501	SO:0001819	synonymous_variant	0			AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"short coiled coil protein"			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.408A>G	4.37:g.141302186A>G			B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Silent	SNP	pfam_DUF2205_coiled-coil	p.G136	ENST00000608372.1	37	c.408	CCDS54806.1	4																																																																																			SCOC	-	pfam_DUF2205_coiled-coil	ENSG00000153130		0.323	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCOC	HGNC	protein_coding	OTTHUMT00000257274.2	-	0	31	0	A			141302186	1	tier1	-	no_errors	ENST00000608372	ensembl	human	known	74_37	silent	24.32	28	9	SNP	0.999	G	G	141302186	A	G	141302186	2	3	52	1	0	0	0	0	0	0	0	1	13978	262	10	4		4	SCOC	4	141302186	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	12352342	141302186	49852090	229	12569											
HHIP	64399	genome.wustl.edu	37	chr4	145580090	145580090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgacaaagtggaagaGatcagcaggttcataaagat	18	8	11	4	0	2	3	2	1	0	2	2	6	2	4	0	2	1	2	0	2	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:145580090G>T	ENST00000296575.3	+	3	1276	c.621G>T	c.(619-621)gaG>gaT	p.E207D	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.E207D	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	207					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAGTGGAAGAGATCAGCAGGT	0.378																																																	0													86	89	88					4																	145580090		2203	4300	6503	SO:0001583	missense	0			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.621G>T	4.37:g.145580090G>T	ENSP00000296575:p.Glu207Asp		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.E207D	ENST00000296575.3	37	c.621	CCDS3762.1	4	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429329	0.25726	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.46819	3.35;0.86	5.91	5.07	0.68467	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Folate receptor-like (1);	0.266540	0.42964	D	0.000623	T	0.37073	0.0990	L	0.41236	1.265	0.31865	N	0.620459	B;B	0.12630	0.002;0.006	B;B	0.14023	0.005;0.01	T	0.39522	-0.9610	10	0.13470	T	0.59	-14.0709	12.7179	0.57125	0.0:0.1259:0.743:0.131	.	207;207	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	D	207	ENSP00000296575:E207D;ENSP00000408587:E207D	ENSP00000296575:E207D	E	+	3	2	HHIP	145799540	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.115000	0.31209	1.502000	0.48669	-0.189000	0.12847	GAG	HHIP	-	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH	ENSG00000164161		0.378	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	HGNC	protein_coding	OTTHUMT00000364887.2	-	0	39	0	G			145580090	1	tier1	-	no_errors	ENST00000296575	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	T	T	145580090	G	T	145580090	3	4	52	1	0	0	0	0	1	0	0	0	7119	933	33	3	631	3	HHIP	4	145580090	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4277904	145580090	45574186	230	12570											
DCHS2	54798	genome.wustl.edu	37	chr4	155253834	155253834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagacacgaacaatgactgTagtgctcacattttgcaaga	14	9	8	10	1	1	3	1	1	0	2	1	4	1	3	1	0	3	3	1	0	4	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:155253834T>C	ENST00000357232.4	-	9	2028	c.2029A>G	c.(2029-2031)Aca>Gca	p.T677A	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Missense_Mutation_p.T1176A	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	677	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAATGACTGTAGTGCTCACA	0.448																																																	0													123	126	125					4																	155253834		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2029A>G	4.37:g.155253834T>C	ENSP00000349768:p.Thr677Ala		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T677A	ENST00000357232.4	37	c.2029	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	3.148	-0.174847	0.06421	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.64260	-0.09;-0.09	4.89	-1.15	0.09709	Cadherin (3);Cadherin-like (1);	0.869354	0.09687	N	0.768953	T	0.53867	0.1823	M	0.64630	1.985	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.47275	-0.9130	10	0.39692	T	0.17	.	6.9249	0.24410	0.5219:0.24:0.0:0.2381	.	1176;677	E9PC11;Q6V1P9	.;PCD23_HUMAN	A	677;1176;1176	ENSP00000349768:T677A;ENSP00000345062:T1176A	ENSP00000345062:T1176A	T	-	1	0	DCHS2	155473284	0.005000	0.15991	0.017000	0.16124	0.196000	0.23810	1.103000	0.31062	-0.007000	0.14345	-1.629000	0.00783	ACA	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	51	0	T	NM_001142552		155253834	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	C	C	155253834	T	C	155253834	3	2	52	1	0	0	0	0	1	0	0	0	4297	1638	57	4	6885	4	DCHS2	4	155253834	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	9673744	155253834	35900442	231	12571											
MAP9	79884	genome.wustl.edu	37	chr4	156281335	156281335	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacctttgaagatgctgtTgcactggtagatattaagat	13	14	9	5	0	0	4	0	1	0	3	0	4	0	4	1	1	3	4	1	1	6	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:156281335T>G	ENST00000311277.4	-	7	1298	c.1035A>C	c.(1033-1035)gcA>gcC	p.A345A	AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000598252.1_RNA|MAP9_ENST00000515654.1_Silent_p.A321A|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000600928.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	345					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AAGATGCTGTTGCACTGGTAG	0.308																																																	0													103	102	102					4																	156281335		2202	4300	6502	SO:0001819	synonymous_variant	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1035A>C	4.37:g.156281335T>G			Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	NULL	p.A345	ENST00000311277.4	37	c.1035	CCDS35493.1	4																																																																																			MAP9	-	NULL	ENSG00000164114		0.308	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	-	0	62	0	T	NM_001039580		156281335	-1	tier1	-	no_errors	ENST00000311277	ensembl	human	known	74_37	silent	29.79	33	14	SNP	0.082	G	G	156281335	T	G	156281335	2	3	52	1	0	0	0	0	0	0	0	1	9308	1799	63	4		4	MAP9	4	156281335	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1027501	156281335	34872941	232	12572											
RXFP1	59350	genome.wustl.edu	37	chr4	159554592	159554592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagattgaaaatcttccacCgcttatattcaaggacctga	14	12	6	9	1	2	3	1	2	1	1	3	4	3	4	3	1	0	1	3	1	6	6	rs200427299		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:159554592C>T	ENST00000307765.5	+	12	1186	c.935C>T	c.(934-936)cCg>cTg	p.P312L	RXFP1_ENST00000470033.1_Missense_Mutation_p.P279L|RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000448688.2_Missense_Mutation_p.P207L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P231L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATCTTCCACCGCTTATATTC	0.289																																																	0								C	LEU/PRO	0,3606		0,0,1803	76	75	75		935	3.9	0.5	4		75	2,8154		0,2,4076	yes	missense	RXFP1	NM_021634.2	98	0,2,5879	TT,TC,CC		0.0245,0.0,0.017	benign	312/758	159554592	2,11760	1803	4078	5881	SO:0001583	missense	0			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.935C>T	4.37:g.159554592C>T	ENSP00000303248:p.Pro312Leu		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.P312L	ENST00000307765.5	37	c.935	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074080	0.55646	0.0	2.45E-4	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000470033;ENST00000440678	T;T;T;T	0.60424	0.27;3.41;0.19;3.41	4.74	3.88	0.44766	.	0.172571	0.51477	D	0.000082	T	0.58177	0.2104	M	0.70903	2.155	0.46336	D	0.998998	B;P;B;P;B;P;P;P	0.46327	0.439;0.813;0.16;0.814;0.083;0.846;0.876;0.819	B;B;B;B;B;B;B;B	0.43658	0.072;0.426;0.072;0.3;0.044;0.426;0.412;0.158	T	0.58940	-0.7547	10	0.38643	T	0.18	.	12.0137	0.53301	0.1734:0.8266:0.0:0.0	.	323;339;207;279;231;182;249;312	B3KV27;B4DGP2;B4DHD1;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	231;312;207;279;182	ENSP00000423306:P231L;ENSP00000303248:P312L;ENSP00000414885:P207L;ENSP00000420712:P279L	ENSP00000303248:P312L	P	+	2	0	RXFP1	159774042	0.429000	0.25530	0.519000	0.27824	0.888000	0.51559	0.781000	0.26774	0.947000	0.37659	0.491000	0.48974	CCG	RXFP1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171509		0.289	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	-	0	72	0	C	NM_021634		159554592	1	tier1	rs200427299	no_errors	ENST00000307765	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.892	T	T	159554592	C	T	159554592	3	4	52	1	0	0	0	0	1	0	0	0	13804	652	23	1	981	1	RXFP1	4	159554592	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3273257	159554592	31599684	233	12573											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160260486	160260486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttccaaacttgcagaCagaatacaactgagtggaag	15	8	9	9	0	0	3	0	1	0	2	1	4	1	4	1	1	5	2	1	1	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:160260486C>T	ENST00000264431.4	+	13	2450	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	677	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AACTTGCAGACAGAATACAAC	0.418																																																	0													104	98	100					4																	160260486		1869	4094	5963	SO:0001819	synonymous_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2031C>T	4.37:g.160260486C>T			D3DP27	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D677	ENST00000264431.4	37	c.2031	CCDS43277.1	4																																																																																			RAPGEF2	-	pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000109756		0.418	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0	34	0	C	NM_014247		160260486	1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	silent	25.00	21	7	SNP	0.969	T	T	160260486	C	T	160260486	2	4	52	1	0	0	0	0	0	0	0	1	13089	477	17	3		3	RAPGEF2	4	160260486	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	705894	160260486	30893790	234	12574											
C4orf39	152756	genome.wustl.edu	37	chr4	165878447	165878447	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgtgccctgtcagccgCtcatggtgcccagagaggaa	7	7	13	14	3	2	1	2	0	0	1	3	3	3	2	4	2	3	1	4	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:165878447C>A	ENST00000513876.2	+	1	348	c.273C>A	c.(271-273)cgC>cgA	p.R91R	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	91																	CTGTCAGCCGCTCATGGTGCC	0.567																																																	0													49	43	45					4																	165878447		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 39"	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.273C>A	4.37:g.165878447C>A				Silent	SNP	NULL	p.R91	ENST00000513876.2	37	c.273	CCDS3807.1	4																																																																																			FAM218A	-	NULL	ENSG00000250486		0.567	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM218A	HGNC	protein_coding	OTTHUMT00000364308.1	-	0	25	0	C	NM_153027		165878447	1	tier1	-	no_errors	ENST00000513876	ensembl	human	known	74_37	silent	51.43	17	18	SNP	0.000	A	A	165878447	C	A	165878447	2	1	52	1	0	0	0	0	0	0	0	1	2275	784	28	3		3	C4orf39	4	165878447	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5617961	165878447	25275829	235	12575											
GALNTL6	442117	genome.wustl.edu	37	chr4	173150833	173150833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgggcctgggagatggGcaattctattcatggacaga	10	9	13	9	0	2	2	1	0	1	2	2	4	2	3	2	4	0	1	2	4	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:173150833G>A	ENST00000506823.1	+	3	822	c.165G>A	c.(163-165)ggG>ggA	p.G55G	GALNTL6_ENST00000508122.1_Silent_p.G38G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	55					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TGGGAGATGGGCAATTCTATT	0.448																																																	0													117	102	107					4																	173150833		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.165G>A	4.37:g.173150833G>A			Q2L4S6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G55	ENST00000506823.1	37	c.165	CCDS34104.1	4																																																																																			GALNTL6	-	NULL	ENSG00000174473		0.448	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	-	0	69	0	G	NM_001034845		173150833	1	tier1	-	no_errors	ENST00000506823	ensembl	human	known	74_37	silent	35.80	52	29	SNP	1.000	A	A	173150833	G	A	173150833	2	1	52	1	0	0	0	0	0	0	0	1	6250	1190	42	3		3	GALNTL6	4	173150833	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	7272386	173150833	18003443	236	12576											
VEGFC	7424	genome.wustl.edu	37	chr4	177632776	177632777	+	Frame_Shift_Ins	INS	-	-	GA																															tgttactggtttggggccttINSgagagagaggcactgtaatt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:177632776_177632777insGA	ENST00000280193.2	-	4	995_996	c.580_581insTC	c.(580-582)caafs	p.Q194fs	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	194					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTTGGGGCCTTGAGAGAGAGGC	0.361																																																	0																																										SO:0001589	frameshift_variant	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"vascular endothelial growth factor-related protein"	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.579_580dupTC	4.37:g.177632783_177632784dupGA	ENSP00000280193:p.Gln194fs		B2R9Q8	Frame_Shift_Ins	INS	pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.Q194fs	ENST00000280193.2	37	c.581_580	CCDS43285.1	4																																																																																			VEGFC	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000150630		0.361	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1		0	45	0	-	NM_005429		177632777	-1	tier1		no_errors	ENST00000280193	ensembl	human	known	74_37	frame_shift_ins	25.93	40	14	INS	1.000:1.000	GA	GA	177632777	-	GA	177632776	7	5	52	1	0	1	1	0	0	0	0	0	17201	1812	63	0	697	0	VEGFC	4	177632776	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	4481943	177632776	13521500	237	12577											
SNX25	83891	genome.wustl.edu	37	chr4	186244914	186244914	+	Frame_Shift_Del	DEL	A	A	-																															attgttgataaaagaggaagAaaaacatgcctcacagatga																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:186244914delA	ENST00000504273.1	+	9	1511	c.1217delA	c.(1216-1218)gaafs	p.E406fs	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Frame_Shift_Del_p.E406fs			Q9H3E2	SNX25_HUMAN	sorting nexin 25	406					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAAGAGGAAGAAAAACATGCC	0.338																																																	0													56	53	54					4																	186244914		2203	4298	6501	SO:0001589	frameshift_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1217delA	4.37:g.186244914delA	ENSP00000426255:p.Glu406fs		Q3ZT30|Q8N6K3	Frame_Shift_Del	DEL	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.K407fs	ENST00000504273.1	37	c.1217	CCDS34116.1	4																																																																																			SNX25	-	NULL	ENSG00000109762		0.338	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1		0	54	0	A	NM_031953		186244914	1	tier1		no_errors	ENST00000264694	ensembl	human	known	74_37	frame_shift_del	25.53	35	12	DEL	0.952	-	-	186244914	A	-	186244914	7	5	52	1	0	1	0	1	0	0	0	0	14941	246	9	0	1247	0	SNX25	4	186244914	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	8612138	186244914	4909362	238	12578											
CCDC110	256309	genome.wustl.edu	37	chr4	186380035	186380035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcattgcttccatttctAtactcattcgattattttca	8	22	2	9	1	4	0	3	0	1	0	6	1	5	0	1	0	2	1	1	0	3	11			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:186380035A>G	ENST00000307588.3	-	6	1781	c.1706T>C	c.(1705-1707)aTa>aCa	p.I569T	CCDC110_ENST00000393540.3_Missense_Mutation_p.I532T|CCDC110_ENST00000510617.1_Missense_Mutation_p.I569T|CCDC110_ENST00000507501.1_5'Flank	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	569						nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCCATTTCTATACTCATTCG	0.299																																																	0													101	97	99					4																	186380035		2201	4292	6493	SO:0001583	missense	0			AB080722	CCDS3843.1, CCDS47170.1	4q35.1	2010-12-24			ENSG00000168491	ENSG00000168491			28504	protein-coding gene	gene with protein product	"cancer/testis antigen 52"	609488				18160854	Standard	NM_152775		Approved	KM-HN-1, MGC33607, CT52	uc003ixu.4	Q8TBZ0	OTTHUMG00000160415	ENST00000307588.3:c.1706T>C	4.37:g.186380035A>G	ENSP00000306776:p.Ile569Thr		Q86YI9|Q8N7W0	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.I569T	ENST00000307588.3	37	c.1706	CCDS3843.1	4	.	.	.	.	.	.	.	.	.	.	A	6.794	0.515508	0.12944	.	.	ENSG00000168491	ENST00000393540;ENST00000307588;ENST00000510617	T;T;T	0.28895	1.59;1.59;1.59	5.85	1.78	0.24846	.	0.222840	0.32386	N	0.006169	T	0.36853	0.0982	M	0.65975	2.015	0.09310	N	1	D;D;D	0.60575	0.988;0.988;0.988	P;P;P	0.56343	0.796;0.796;0.796	T	0.20974	-1.0259	10	0.14656	T	0.56	-8.2397	5.4932	0.16787	0.6614:0.0:0.0727:0.2659	.	569;532;569	B4DZA2;Q8TBZ0-2;Q8TBZ0	.;.;CC110_HUMAN	T	532;569;569	ENSP00000377172:I532T;ENSP00000306776:I569T;ENSP00000427246:I569T	ENSP00000306776:I569T	I	-	2	0	CCDC110	186617029	0.000000	0.05858	0.559000	0.28332	0.687000	0.40016	0.423000	0.21313	0.442000	0.26555	0.533000	0.62120	ATA	CCDC110	-	NULL	ENSG00000168491		0.299	CCDC110-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC110	HGNC	protein_coding	OTTHUMT00000360519.2	-	0	83	0	A	NM_152775		186380035	-1	tier1	-	no_errors	ENST00000307588	ensembl	human	known	74_37	missense	36.36	42	24	SNP	0.158	G	G	186380035	A	G	186380035	3	3	52	1	0	0	0	0	1	0	0	0	2754	449	16	4	803	4	CCDC110	4	186380035	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	135121	186380035	4774241	239	12579											
SORBS2	8470	genome.wustl.edu	37	chr4	186541266	186541266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgcacttctccccatgTcagtcaaagtggatgagtaa	10	12	10	9	0	3	1	2	1	1	0	4	2	3	2	2	2	1	2	2	2	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr4:186541266T>C	ENST00000284776.7	-	14	3052	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	SORBS2_ENST00000437304.2_Missense_Mutation_p.D572G|SORBS2_ENST00000449407.2_Missense_Mutation_p.D392G|SORBS2_ENST00000448662.2_Missense_Mutation_p.D409G|SORBS2_ENST00000393528.3_Missense_Mutation_p.D414G|SORBS2_ENST00000319471.9_Missense_Mutation_p.D479G|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.D752G|SORBS2_ENST00000355634.5_Missense_Mutation_p.D948G|SORBS2_ENST00000431808.1_Missense_Mutation_p.D848G	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	848					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCTCCCCATGTCAGTCAAAGT	0.438																																					Esophageal Squamous(153;41 2433 9491 36028)												0													241	240	240					4																	186541266		2203	4300	6503	SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2543A>G	4.37:g.186541266T>C	ENSP00000284776:p.Asp848Gly		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D848G	ENST00000284776.7	37	c.2543	CCDS3845.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.76|16.76	3.211020|3.211020	0.58343|0.58343	.|.	.|.	ENSG00000154556|ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974|ENST00000438278	T;T;T;T;T;T;T;T;T;T;T|.	0.36157|.	1.37;1.6;1.37;1.27;1.39;1.4;1.58;1.36;1.69;1.56;2.65|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.097141|.	0.64402|.	D|.	0.000002|.	T|.	0.70343|.	0.3213|.	L|L	0.58101|0.58101	1.795|1.795	0.58432|0.58432	D|D	0.999991|0.999991	D;D;D;D;D;D;D;D;P;P;B;D;D;D|.	0.76494|.	0.991;0.99;0.994;0.962;0.99;0.999;0.999;0.994;0.874;0.952;0.063;0.99;0.997;0.991|.	P;P;P;P;P;D;D;P;B;P;B;D;P;P|.	0.81914|.	0.73;0.869;0.577;0.633;0.718;0.96;0.995;0.577;0.374;0.612;0.032;0.92;0.888;0.73|.	T|.	0.68454|.	-0.5404|.	10|.	0.66056|.	D|.	0.02|.	-30.3104|-30.3104	15.0521|15.0521	0.71881|0.71881	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	414;409;752;240;297;439;948;848;392;572;409;439;393;414|.	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2|.	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.|.	G|W	848;409;848;752;572;479;392;948;414;439;197|264	ENSP00000284776:D848G;ENSP00000409158:D409G;ENSP00000411764:D848G;ENSP00000397482:D752G;ENSP00000396008:D572G;ENSP00000322182:D479G;ENSP00000397262:D392G;ENSP00000347852:D948G;ENSP00000377162:D414G;ENSP00000321983:D439G;ENSP00000401818:D197G|.	ENSP00000284776:D848G|.	D|X	-|-	2|3	0|0	SORBS2|SORBS2	186778260|186778260	1.000000|1.000000	0.71417|0.71417	0.891000|0.891000	0.34965|0.34965	0.099000|0.099000	0.18886|0.18886	4.169000|4.169000	0.58223|0.58223	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	GAC|TGA	SORBS2	-	NULL	ENSG00000154556		0.438	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	-	0	64	0	T	NM_003603		186541266	-1	tier1	-	no_errors	ENST00000284776	ensembl	human	known	74_37	missense	17.57	61	13	SNP	0.992	C	C	186541266	T	C	186541266	3	2	52	1	0	0	0	0	1	0	0	0	14973	1667	58	4	791	4	SORBS2	4	186541266	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	161231	186541266	4613010	240	12580											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	156905	156905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggacaccctggaggccgCcacaagcctgtacgaccgag	10	3	13	15	3	0	0	0	0	0	0	0	4	0	2	5	3	2	1	5	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:156905C>T	ENST00000283426.6	+	9	1348	c.1298C>T	c.(1297-1299)gCc>gTc	p.A433V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	433							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGGAGGCCGCCACAAGCCTG	0.602																																																	0													22	18	19					5																	156905		2188	4282	6470	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1298C>T	5.37:g.156905C>T	ENSP00000283426:p.Ala433Val			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A433V	ENST00000283426.6	37	c.1298	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	6.843	0.524718	0.13066	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.27402	1.67;3.1	3.87	2.81	0.32909	.	.	.	.	.	T	0.17746	0.0426	L	0.40543	1.245	0.09310	N	1	B	0.30824	0.296	B	0.26310	0.068	T	0.19877	-1.0292	9	0.08381	T	0.77	.	3.9606	0.09409	0.0:0.7445:0.0:0.2555	.	433	Q96PX9	PKH4B_HUMAN	V	433;347	ENSP00000283426:A433V;ENSP00000422493:A347V	ENSP00000283426:A433V	A	+	2	0	PLEKHG4B	209905	0.013000	0.17824	0.004000	0.12327	0.008000	0.06430	1.876000	0.39588	1.712000	0.51347	0.467000	0.42956	GCC	PLEKHG4B	-	NULL	ENSG00000153404		0.602	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	-	0	19	0	C	NM_052909		156905	1	tier1	-	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	18.26	93	21	SNP	0.023	T	T	156905	C	T	156905	3	4	52	1	0	0	0	0	1	0	0	0	12111	739	26	3	1332	3	PLEKHG4B	5	156905	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		156905	180758355	241	12581											
PLEKHG4B	153478	genome.wustl.edu	37	chr5	171525	171525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcgtcacggcaatgAcctgctggccatggacgcca	8	6	12	15	3	1	1	1	1	0	0	1	2	1	2	4	3	3	3	4	3	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:171525A>G	ENST00000283426.6	+	14	2998	c.2948A>G	c.(2947-2949)gAc>gGc	p.D983G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	983	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACGGCAATGACCTGCTGGCC	0.657																																																	0													24	26	26					5																	171525		2202	4298	6500	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"Pleckstrin homology (PH) domain containing"	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2948A>G	5.37:g.171525A>G	ENSP00000283426:p.Asp983Gly			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D983G	ENST00000283426.6	37	c.2948	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674085	0.67928	.	.	ENSG00000153404	ENST00000283426	T	0.32515	1.45	2.79	2.79	0.32731	Dbl homology (DH) domain (4);	.	.	.	.	T	0.65281	0.2676	H	0.97240	3.965	0.41902	D	0.990429	D	0.89917	1.0	D	0.80764	0.994	T	0.71764	-0.4494	9	0.72032	D	0.01	.	8.6981	0.34310	1.0:0.0:0.0:0.0	.	983	Q96PX9	PKH4B_HUMAN	G	983	ENSP00000283426:D983G	ENSP00000283426:D983G	D	+	2	0	PLEKHG4B	224525	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.538000	0.82048	0.890000	0.36211	0.260000	0.18958	GAC	PLEKHG4B	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000153404		0.657	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	-	0	12	0	A	NM_052909		171525	1	tier1	-	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	23.81	63	20	SNP	1.000	G	G	171525	A	G	171525	3	3	52	1	0	0	0	0	1	0	0	0	12111	275	10	4	3002	4	PLEKHG4B	5	171525	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	14620	171525	180743735	242	12582											
BRD9	65980	genome.wustl.edu	37	chr5	876321	876321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatccttcacaaactcCtgcaggctagaggggccgcg	9	6	11	15	2	1	1	1	0	0	1	3	1	3	1	4	3	3	3	4	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:876321C>A	ENST00000467963.1	-	12	1444	c.1278G>T	c.(1276-1278)caG>caT	p.Q426H	BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000483173.1_Missense_Mutation_p.Q373H|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.Q310H|BRD9_ENST00000323510.4_Missense_Mutation_p.Q330H	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	426					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCACAAACTCCTGCAGGCTAG	0.622																																																	0													84	69	74					5																	876321		2203	4300	6503	SO:0001583	missense	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1278G>T	5.37:g.876321C>A	ENSP00000419765:p.Gln426His		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q426H	ENST00000467963.1	37	c.1278	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	c	9.683	1.149890	0.21371	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.59010	-0.7534	10	0.26408	T	0.33	.	12.4509	0.55677	0.0:0.916:0.0:0.084	.	373;426;104;330;310	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	H	330;310;104;373;426	ENSP00000323557:Q330H;ENSP00000373542:Q310H;ENSP00000419845:Q373H;ENSP00000419765:Q426H	ENSP00000323557:Q330H	Q	-	3	2	BRD9	929321	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	4.553000	0.60753	2.235000	0.73313	0.591000	0.81541	CAG	BRD9	-	pfam_DUF3512	ENSG00000028310		0.622	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1		0	20	0	C	NM_023924		876321	-1			no_errors	ENST00000467963	ensembl	human	known	74_37	missense	11.25	71	9	SNP	1.000	A	A	876321	C	A	876321	3	1	52	1	0	0	0	0	1	0	0	0	1511	680	24	3	535	3	BRD9	5	876321	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	704796	876321	180038939	243	12583											
BRD9	65980	genome.wustl.edu	37	chr5	878486	878486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctcagcgcacactgcaCgcctgtctcatctccgtagg	6	10	9	16	3	3	0	2	0	2	0	5	0	3	0	3	1	3	3	3	1	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:878486C>T	ENST00000467963.1	-	11	1421	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	BRD9_ENST00000494422.1_5'UTR|BRD9_ENST00000483173.1_Missense_Mutation_p.V366M|BRD9_ENST00000435709.2_3'UTR|BRD9_ENST00000388890.4_Missense_Mutation_p.V303M|BRD9_ENST00000323510.4_Missense_Mutation_p.V323M	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	419					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GCACACTGCACGCCTGTCTCA	0.587																																																	0													125	103	110					5																	878486		2203	4300	6503	SO:0001583	missense	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1255G>A	5.37:g.878486C>T	ENSP00000419765:p.Val419Met		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V419M	ENST00000467963.1	37	c.1255	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	c	14.86	2.662978	0.47572	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000323547;ENST00000483173;ENST00000467963	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.42	4.43	0.53597	.	0.107288	0.64402	D	0.000006	T	0.57621	0.2066	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.997;0.995	D;D;D;P;P	0.68353	0.957;0.957;0.936;0.896;0.863	T	0.61811	-0.6986	10	0.72032	D	0.01	.	3.7653	0.08620	0.0:0.6537:0.0:0.3463	.	366;419;97;323;303	B4DMQ2;Q9H8M2;Q8NDF4;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.;.	M	323;303;97;366;419	ENSP00000323557:V323M;ENSP00000373542:V303M;ENSP00000419845:V366M;ENSP00000419765:V419M	ENSP00000323557:V323M	V	-	1	0	BRD9	931486	0.996000	0.38824	0.953000	0.39169	0.110000	0.19582	3.285000	0.51716	2.538000	0.85594	0.655000	0.94253	GTG	BRD9	-	pfam_DUF3512	ENSG00000028310		0.587	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1		0	32	0	C	NM_023924		878486	-1			no_errors	ENST00000467963	ensembl	human	known	74_37	missense	6.72	124	9	SNP	0.983	T	T	878486	C	T	878486	3	4	52	1	0	0	0	0	1	0	0	0	1511	536	19	1	562	1	BRD9	5	878486	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2165	878486	180036774	244	12584											
SLC12A7	10723	genome.wustl.edu	37	chr5	1085510	1085510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcacgtgccgtacacacGcatgttgtgcagcatggcgg	7	8	14	12	5	0	0	0	0	0	0	0	0	0	0	1	2	5	6	1	2	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:1085510G>A	ENST00000264930.5	-	7	797	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	252					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCGTACACACGCATGTTGTGC	0.652																																																	0													74	53	60					5																	1085510		2192	4299	6491	SO:0001583	missense	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.754C>T	5.37:g.1085510G>A	ENSP00000264930:p.Arg252Cys		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R252C	ENST00000264930.5	37	c.754	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	g	17.73	3.461073	0.63513	.	.	ENSG00000113504	ENST00000264930	D	0.87334	-2.24	3.58	2.6	0.31112	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94990	0.8133	10	0.87932	D	0	.	9.9247	0.41485	0.0:0.0:0.7054:0.2946	.	252	Q9Y666	S12A7_HUMAN	C	252	ENSP00000264930:R252C	ENSP00000264930:R252C	R	-	1	0	SLC12A7	1138510	1.000000	0.71417	0.987000	0.45799	0.840000	0.47671	4.658000	0.61497	1.730000	0.51580	0.550000	0.68814	CGT	SLC12A7	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.652	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2		0	26	0	G	NM_006598		1085510	-1			no_errors	ENST00000264930	ensembl	human	known	74_37	missense	7.32	114	9	SNP	1.000	A	A	1085510	G	A	1085510	3	1	52	1	0	0	0	0	1	0	0	0	14433	1087	38	1	2569	1	SLC12A7	5	1085510	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	207024	1085510	179829750	245	12585											
PAPD7	11044	genome.wustl.edu	37	chr5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctggaggaggaaaaaaCacacacacacacgggacagt	16	2	12	11	2	0	0	0	0	0	0	0	4	0	4	1	5	1	1	1	5	3	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:6755014C>A	ENST00000230859.6	+	13	1714	c.1585C>A	c.(1585-1587)Cac>Aac	p.H529N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGAAAAAACACACACACAC	0.657																																					NSCLC(7;212 333 5667 23379 46547)												0													29	31	30					5																	6755014		2202	4300	6502	SO:0001583	missense	0			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1585C>A	5.37:g.6755014C>A	ENSP00000230859:p.His529Asn		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.H529N	ENST00000230859.6	37	c.1585	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940508	0.52972	.	.	ENSG00000112941	ENST00000230859	T	0.33216	1.42	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000017	T	0.16727	0.0402	N	0.19112	0.55	0.31730	N	0.637111	P;P	0.43826	0.818;0.818	B;B	0.32090	0.14;0.14	T	0.20806	-1.0264	10	0.72032	D	0.01	-12.2819	10.9635	0.47399	0.0:0.912:0.0:0.088	.	528;529	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	529	ENSP00000230859:H529N	ENSP00000230859:H529N	H	+	1	0	PAPD7	6808014	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.917000	0.48821	2.458000	0.83093	0.655000	0.94253	CAC	PAPD7	-	NULL	ENSG00000112941		0.657	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1		0	18	0	C	NM_006999		6755014	1			no_errors	ENST00000230859	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	A	A	6755014	C	A	6755014	3	1	52	1	0	0	0	0	1	0	0	0	11465	478	17	3	1631	3	PAPD7	5	6755014	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5669504	6755014	174160246	246	12586											
DNAH5	1767	genome.wustl.edu	37	chr5	13839629	13839629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatgggactcttgatatgCatatgacactgaaattcaaa	14	12	7	8	0	2	3	1	3	1	0	3	4	3	4	1	1	1	1	1	1	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:13839629C>T	ENST00000265104.4	-	35	5822	c.5718G>A	c.(5716-5718)atG>atA	p.M1906I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1906	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTGATATGCATATGACACT	0.353									Kartagener syndrome																																								0													71	68	69					5																	13839629		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5718G>A	5.37:g.13839629C>T	ENSP00000265104:p.Met1906Ile		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M1906I	ENST00000265104.4	37	c.5718	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481256	0.44147	.	.	ENSG00000039139	ENST00000265104	T	0.22743	1.94	4.93	4.93	0.64822	.	0.104213	0.64402	D	0.000006	T	0.26412	0.0645	M	0.64676	1.99	0.53688	D	0.999972	B	0.12013	0.005	B	0.19946	0.027	T	0.03761	-1.1006	10	0.35671	T	0.21	.	17.1545	0.86787	0.0:1.0:0.0:0.0	.	1906	Q8TE73	DYH5_HUMAN	I	1906	ENSP00000265104:M1906I	ENSP00000265104:M1906I	M	-	3	0	DNAH5	13892629	1.000000	0.71417	0.997000	0.53966	0.869000	0.49853	4.037000	0.57311	2.300000	0.77407	0.650000	0.86243	ATG	DNAH5	-	NULL	ENSG00000039139		0.353	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	18	0	C	NM_001369		13839629	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	T	T	13839629	C	T	13839629	3	4	52	1	0	0	0	0	1	0	0	0	4618	710	25	3	8336	3	DNAH5	5	13839629	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	7084615	13839629	167075631	247	12587											
ANKH	56172	genome.wustl.edu	37	chr5	14758594	14758594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttctctactcaccattgCgtccatgaaaggaaaggcgg	11	10	9	11	2	3	1	1	1	2	0	5	2	4	2	2	3	2	0	2	3	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:14758594C>T	ENST00000284268.6	-	3	757	c.427G>A	c.(427-429)Gca>Aca	p.A143T	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	143					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCACCATTGCGTCCATGAAA	0.413																																																	0													107	97	100					5																	14758594		2203	4300	6503	SO:0001583	missense	0			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"ankylosis, progressive (mouse) homolog", "craniometaphyseal dysplasia, Jackson type (dominant)", "ankylosis, progressive homolog (mouse)"	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.427G>A	5.37:g.14758594C>T	ENSP00000284268:p.Ala143Thr		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	pfam_ANKH	p.A143T	ENST00000284268.6	37	c.427	CCDS3885.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.790157	0.96945	.	.	ENSG00000154122	ENST00000284268	D	0.95885	-3.84	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97052	0.9037	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97553	1.0093	10	0.72032	D	0.01	-32.5525	18.4049	0.90532	0.0:1.0:0.0:0.0	.	143	Q9HCJ1	ANKH_HUMAN	T	143	ENSP00000284268:A143T	ENSP00000284268:A143T	A	-	1	0	ANKH	14811594	1.000000	0.71417	0.986000	0.45419	0.949000	0.60115	7.757000	0.85209	2.588000	0.87417	0.563000	0.77884	GCA	ANKH	-	pfam_ANKH	ENSG00000154122		0.413	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	-	0	24	0	C	NM_054027		14758594	-1	tier1	-	no_errors	ENST00000284268	ensembl	human	known	74_37	missense	15.62	108	20	SNP	1.000	T	T	14758594	C	T	14758594	3	4	52	1	0	0	0	0	1	0	0	0	627	768	27	1	1091	1	ANKH	5	14758594	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	918965	14758594	166156666	248	12588											
FBXL7	23194	genome.wustl.edu	37	chr5	15928463	15928463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactgtcagtggctgcaggCggctcacagaccgagggctg	8	7	15	11	2	2	1	2	0	0	1	2	2	2	1	1	4	2	4	1	4	1	1	rs369795247		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:15928463C>T	ENST00000504595.1	+	3	1073	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	FBXL7_ENST00000510662.1_Missense_Mutation_p.R151W|FBXL7_ENST00000329673.7_Missense_Mutation_p.R186W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	198					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGCTGCAGGCGGCTCACAGA	0.607																																																	0								C	TRP/ARG	0,4204		0,0,2102	34	40	38		592	4.5	1	5		38	2,8428		0,2,4213	no	missense	FBXL7	NM_012304.3	101	0,2,6315	TT,TC,CC		0.0237,0.0,0.0158	probably-damaging	198/492	15928463	2,12632	2102	4215	6317	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.592C>T	5.37:g.15928463C>T	ENSP00000423630:p.Arg198Trp		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R198W	ENST00000504595.1	37	c.592	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669576	0.67814	0.0	2.37E-4	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.29655	1.56;1.56;1.56	5.36	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.88181	2.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.67548	0.952	T	0.70044	-0.4980	10	0.72032	D	0.01	.	15.1343	0.72552	0.1425:0.8575:0.0:0.0	.	198	Q9UJT9	FBXL7_HUMAN	W	198;151;186	ENSP00000423630:R198W;ENSP00000425184:R151W;ENSP00000329632:R186W	ENSP00000329632:R186W	R	+	1	2	FBXL7	15981463	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.463000	0.35277	1.203000	0.43233	0.561000	0.74099	CGG	FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000183580		0.607	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	-	0	50	0	C	NM_012304		15928463	1	tier1	-	no_errors	ENST00000504595	ensembl	human	known	74_37	missense	12.58	132	19	SNP	1.000	T	T	15928463	C	T	15928463	3	4	52	1	0	0	0	0	1	0	0	0	5746	759	27	1	602	1	FBXL7	5	15928463	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1169869	15928463	164986797	249	12589											
RNASEN	29102	genome.wustl.edu	37	chr5	31431690	31431690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagagaaattacctattaaCgcttcaaaacaattggccat	17	10	6	8	1	1	2	1	0	0	2	1	3	1	2	2	1	3	1	2	1	7	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:31431690C>T	ENST00000511367.2	-	25	3382	c.3138G>A	c.(3136-3138)gcG>gcA	p.A1046A	DROSHA_ENST00000344624.3_Silent_p.A1046A|DROSHA_ENST00000442743.1_Silent_p.A1009A|DROSHA_ENST00000513349.1_Silent_p.A1009A	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1046	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TACCTATTAACGCTTCAAAAC	0.403																																																	0													110	102	105					5																	31431690		1877	4105	5982	SO:0001819	synonymous_variant	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3138G>A	5.37:g.31431690C>T			E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.A1046	ENST00000511367.2	37	c.3138	CCDS47195.1	5																																																																																			DROSHA	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom	ENSG00000113360		0.403	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0	28	0	C	NM_013235		31431690	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	silent	9.09	70	7	SNP	0.247	T	T	31431690	C	T	31431690	2	4	52	1	0	0	0	0	0	0	0	1	13462	523	19	1		1	RNASEN	5	31431690	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	15503227	31431690	149483570	250	12590											
PDZD2	23037	genome.wustl.edu	37	chr5	32087827	32087827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtagagagagccctgtgAcggacattgacagcttcatc	11	8	13	9	1	1	4	1	2	0	2	2	7	1	6	1	2	2	2	1	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:32087827A>G	ENST00000438447.1	+	20	4661	c.4273A>G	c.(4273-4275)Acg>Gcg	p.T1425A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1425A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1425			T -> M (in dbSNP:rs36097367).		cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGCCCTGTGACGGACATTGA	0.607																																																	0													40	41	40					5																	32087827		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4273A>G	5.37:g.32087827A>G	ENSP00000402033:p.Thr1425Ala		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T1425A	ENST00000438447.1	37	c.4273	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	A	18.87	3.714542	0.68730	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08984	3.03;3.03	5.55	4.32	0.51571	.	0.000000	0.45867	D	0.000323	T	0.14787	0.0357	L	0.59436	1.845	0.35161	D	0.770647	D	0.58620	0.983	P	0.51016	0.656	T	0.10245	-1.0638	10	0.72032	D	0.01	.	9.6777	0.40050	0.8444:0.0:0.0:0.1556	.	1425	O15018	PDZD2_HUMAN	A	1425;1226;1425	ENSP00000402033:T1425A;ENSP00000282493:T1425A	ENSP00000282493:T1425A	T	+	1	0	PDZD2	32123584	0.997000	0.39634	0.840000	0.33206	0.677000	0.39632	2.808000	0.47963	2.117000	0.64856	0.533000	0.62120	ACG	PDZD2	-	NULL	ENSG00000133401		0.607	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	30	0	A			32087827	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	16.82	89	18	SNP	0.993	G	G	32087827	A	G	32087827	3	3	52	1	0	0	0	0	1	0	0	0	11740	275	10	4	4347	4	PDZD2	5	32087827	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	656137	32087827	148827433	251	12591											
GOLPH3	64083	genome.wustl.edu	37	chr5	32143921	32143922	+	Frame_Shift_Ins	INS	-	-	A																															gtaaccttcctctcaatgctINSaattcaattaacatacagcc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:32143921_32143922insA	ENST00000265070.6	-	2	605_606	c.290_291insT	c.(289-291)ttafs	p.L97fs	GOLPH3_ENST00000512668.1_Intron	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	97					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CTCTCAATGCTAATTCAATTAA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"golgi peripheral membrane protein 1, 34 kDa", "golgi protein", "coat-protein", "golgi-associated protein"	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.291dupT	5.37:g.32143923_32143923dupA	ENSP00000265070:p.Leu97fs		Q9UIW5	Frame_Shift_Ins	INS	pfam_GPP34	p.L97fs	ENST00000265070.6	37	c.291_290	CCDS3896.1	5																																																																																			GOLPH3	-	pfam_GPP34	ENSG00000113384		0.332	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3	HGNC	protein_coding	OTTHUMT00000207363.2		0	53	0	-	NM_022130		32143922	-1	tier1		no_errors	ENST00000265070	ensembl	human	known	74_37	frame_shift_ins	18.10	95	21	INS	1.000:1.000	A	A	32143922	-	A	32143921	7	5	52	1	0	1	1	0	0	0	0	0	6594	1519	53	0	617	0	GOLPH3	5	32143921	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	56094	32143921	148771339	252	12592											
C5orf42	65250	genome.wustl.edu	37	chr5	37198930	37198931	+	Frame_Shift_Ins	INS	-	-	T																															cagataccttctggcgattaINStttttttcagcttttaaaag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:37198930_37198931insT	ENST00000508244.1	-	19	3638_3639	c.3545_3546insA	c.(3544-3546)aatfs	p.N1182fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.N1182fs|C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.N63fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1182						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TCTGGCGATTATTTTTTTCAGC	0.376																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3546dupA	5.37:g.37198937_37198937dupT	ENSP00000421690:p.Asn1182fs		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	superfamily_Quino_amine_DH_bsu	p.N1182fs	ENST00000508244.1	37	c.3546_3545	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.376	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1		0	23	0	0	NM_023073		37198931	-1			no_errors	ENST00000425232	ensembl	human	known	74_37	frame_shift_ins	9.86	64	7	INS	0.003:0.889	T	T	37198931	-	T	37198930	7	5	52	1	0	1	1	0	0	0	0	0	2308	446	16	0	6179	0	C5orf42	5	37198930	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	5055009	37198930	143716330	253	12593											
PDE4D	5144	genome.wustl.edu	37	chr5	58271490	58271490	+	Frame_Shift_Del	DEL	T	T	-																															acttcatgcattacctgtgaTttttccacggaagcattgtg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:58271490delT	ENST00000340635.6	-	14	2182	c.2007delA	c.(2005-2007)aaafs	p.K669fs	PDE4D_ENST00000317118.8_Frame_Shift_Del_p.K378fs|PDE4D_ENST00000360047.5_Frame_Shift_Del_p.K533fs|PDE4D_ENST00000358923.6_Frame_Shift_Del_p.K367fs|PDE4D_ENST00000503258.1_Frame_Shift_Del_p.K539fs|PDE4D_ENST00000507116.1_Frame_Shift_Del_p.K605fs|PDE4D_ENST00000405755.2_Frame_Shift_Del_p.K547fs|PDE4D_ENST00000546160.1_Frame_Shift_Del_p.K608fs|PDE4D_ENST00000502484.2_Frame_Shift_Del_p.K608fs	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	669					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TTACCTGTGATTTTTCCACGG	0.438																																																	0													81	85	84					5																	58271490		2147	4290	6437	SO:0001589	frameshift_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2007delA	5.37:g.58271490delT	ENSP00000345502:p.Lys669fs		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Frame_Shift_Del	DEL	pfam_PDEase_catalytic_dom,prints_PDEase	p.K669fs	ENST00000340635.6	37	c.2007	CCDS47213.1	5																																																																																			PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.438	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3		0	49	0	T			58271490	-1	tier1		no_errors	ENST00000340635	ensembl	human	known	74_37	frame_shift_del	62.00	19	31	DEL	1.000	-	-	58271490	T	-	58271490	7	5	52	1	0	1	0	1	0	0	0	0	11681	1490	52	0	430	0	PDE4D	5	58271490	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	21072560	58271490	122643770	254	12594											
SFRS12IP1	285672	genome.wustl.edu	37	chr5	64023941	64023941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcaaaaaataccttttccTtttttttttcaatttgattt	10	23	2	6	0	2	1	2	1	0	0	3	1	3	1	2	0	1	1	2	0	5	11			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:64023941T>C	ENST00000513458.4	-	4	438	c.271A>G	c.(271-273)Agg>Ggg	p.R91G		NM_173829.3	NP_776190.1	Q8N9Q2	SR1IP_HUMAN	SREK1-interacting protein 1	91	Lys-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)		nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						TACCttttccttttttttttc	0.264																																																	0													16	20	19					5																	64023941		2130	4171	6301	SO:0001583	missense	0			AK094073	CCDS34171.1	5q12.3	2010-09-20	2010-09-20	2010-09-20	ENSG00000153006	ENSG00000153006			26716	protein-coding gene	gene with protein product	"p18 splicing regulatory protein"		"SFRS12-interacting protein 1"	SFRS12IP1		15456940	Standard	NM_173829		Approved	FLJ36754, P18SRP	uc003jtk.3	Q8N9Q2	OTTHUMG00000162291	ENST00000513458.4:c.271A>G	5.37:g.64023941T>C	ENSP00000427401:p.Arg91Gly		Q32NC8	Missense_Mutation	SNP	superfamily_Znf_CCHC,pfscan_Znf_CCHC	p.R91G	ENST00000513458.4	37	c.271	CCDS34171.1	5	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670092	0.47677	.	.	ENSG00000153006	ENST00000513458	.	.	.	4.04	4.04	0.47022	.	0.151610	0.64402	D	0.000014	T	0.59662	0.2210	M	0.71036	2.16	0.43777	D	0.996307	B	0.20887	0.049	B	0.22386	0.039	T	0.63346	-0.6658	9	0.72032	D	0.01	-13.8338	9.5674	0.39407	0.0:0.0:0.0:1.0	.	91	Q8N9Q2	SR1IP_HUMAN	G	91	.	ENSP00000427401:R91G	R	-	1	2	SREK1IP1	64059697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.024000	0.49674	1.822000	0.53115	0.460000	0.39030	AGG	SREK1IP1	-	NULL	ENSG00000153006		0.264	SREK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREK1IP1	HGNC	protein_coding	OTTHUMT00000368457.4		0	36	0	T	NM_173829		64023941	-1			no_errors	ENST00000513458	ensembl	human	known	74_37	missense	8.33	21	4	SNP	1.000	C	C	64023941	T	C	64023941	3	2	52	1	0	0	0	0	1	0	0	0	14213	1608	56	4	204	4	SFRS12IP1	5	64023941	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	5752451	64023941	116891319	255	12595											
ENC1	8507	genome.wustl.edu	37	chr5	73931058	73931058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttgttgattgtggggTcataatgttctacctgcttt	6	19	9	7	0	2	1	1	1	1	0	3	1	3	1	2	2	2	3	2	2	2	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:73931058T>C	ENST00000302351.4	-	2	2383	c.1253A>G	c.(1252-1254)gAc>gGc	p.D418G	ENC1_ENST00000537006.1_Missense_Mutation_p.D418G|ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.D345G	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	418					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GATTGTGGGGTCATAATGTTC	0.552																																																	0													58	64	62					5																	73931058		2203	4300	6503	SO:0001583	missense	0			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1253A>G	5.37:g.73931058T>C	ENSP00000306356:p.Asp418Gly		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D418G	ENST00000302351.4	37	c.1253	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111365	0.77210	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.88664	-2.41;-2.41;-2.41	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	M	0.89840	3.065	0.80722	D	1	P	0.42649	0.786	P	0.49799	0.622	D	0.94659	0.7846	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	418	O14682	ENC1_HUMAN	G	418;345;418	ENSP00000306356:D418G;ENSP00000423804:D345G;ENSP00000446289:D418G	ENSP00000306356:D418G	D	-	2	0	ENC1	73966814	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.035000	0.88872	2.254000	0.74563	0.459000	0.35465	GAC	ENC1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000171617		0.552	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	-	0	19	0	T	NM_003633		73931058	-1	tier1	-	no_errors	ENST00000302351	ensembl	human	known	74_37	missense	53.85	6	7	SNP	1.000	C	C	73931058	T	C	73931058	3	2	52	1	0	0	0	0	1	0	0	0	5129	1667	58	4	520	4	ENC1	5	73931058	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	9907117	73931058	106984202	256	12596											
EDIL3	10085	genome.wustl.edu	37	chr5	83239319	83239319	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggaaggattcttatgtgTcgtgcatagatgggagggtc	10	11	15	5	1	1	1	0	0	1	1	3	4	1	4	0	4	1	1	0	4	4	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:83239319T>C	ENST00000296591.5	-	11	1780	c.1362A>G	c.(1360-1362)cgA>cgG	p.R454R	EDIL3_ENST00000380138.3_Silent_p.R444R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	454	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTCTTATGTGTCGTGCATAGA	0.468																																																	0													166	152	156					5																	83239319		2203	4300	6503	SO:0001819	synonymous_variant	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1362A>G	5.37:g.83239319T>C			B2R763|O43855|Q5D094|Q8N610	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R454	ENST00000296591.5	37	c.1362	CCDS4062.1	5																																																																																			EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.468	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0	72	0	T	NM_005711		83239319	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.983	C	C	83239319	T	C	83239319	2	2	52	1	0	0	0	0	0	0	0	1	4929	1654	58	4		4	EDIL3	5	83239319	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	9308261	83239319	97675941	257	12597											
POU5F2	134187	genome.wustl.edu	37	chr5	93076993	93076993	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccttcggaggggcgtcGcaaccagtcccctgcctcac	5	6	13	17	4	1	0	1	0	0	0	4	1	2	1	5	4	2	1	5	4	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:93076993G>A	ENST00000510627.4	-	1	350	c.277C>T	c.(277-279)Cga>Tga	p.R93*	POU5F2_ENST00000606183.1_5'Flank|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GAGGGGCGTCGCAACCAGTCC	0.652																																																	0													22	24	24					5																	93076993		1882	4108	5990	SO:0001587	stop_gained	0				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"Homeoboxes / POU class"	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.277C>T	5.37:g.93076993G>A	ENSP00000464890:p.Arg93*		Q15169|Q6MZL7|Q8N748	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.R93*	ENST00000510627.4	37	c.277	CCDS59489.1	5																																																																																			POU5F2	-	NULL	ENSG00000248483		0.652	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	-	0	22	0	G	NM_153216		93076993	-1	tier1	-	no_errors	ENST00000510627	ensembl	human	known	74_37	nonsense	75.00	7	21	SNP	0.002	A	A	93076993	G	A	93076993	4	1	52	1	0	0	0	0	0	1	0	0	12322	1095	38	1	713	1	POU5F2	5	93076993	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	9837674	93076993	87838267	258	12598											
SLCO6A1	133482	genome.wustl.edu	37	chr5	101834246	101834246	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagcgaatgttattgcaAcactcacagcaggtgctgac	13	8	10	10	1	1	1	1	1	0	0	1	2	1	1	0	1	6	5	0	1	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:101834246A>T	ENST00000506729.1	-	1	474	c.303T>A	c.(301-303)tgT>tgA	p.C101*	SLCO6A1_ENST00000514551.1_5'UTR|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Nonsense_Mutation_p.C101*|SLCO6A1_ENST00000389019.3_Nonsense_Mutation_p.C101*|SLCO6A1_ENST00000379807.3_Nonsense_Mutation_p.C101*|SLCO6A1_ENST00000379810.1_Nonsense_Mutation_p.C101*			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	101	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTTATTGCAACACTCACAGC	0.522																																																	0													96	96	96					5																	101834246		2203	4300	6503	SO:0001587	stop_gained	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.303T>A	5.37:g.101834246A>T	ENSP00000421339:p.Cys101*		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.C101*	ENST00000506729.1	37	c.303	CCDS34206.1	5	.	.	.	.	.	.	.	.	.	.	A	25.7	4.661351	0.88154	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	.	.	.	3.52	1.1	0.20463	.	0.328214	0.25222	N	0.032240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	3.7389	0.08521	0.6573:0.2236:0.1191:0.0	.	.	.	.	X	101	.	ENSP00000369135:C101X	C	-	3	2	SLCO6A1	101862145	0.523000	0.26274	0.703000	0.30354	0.001000	0.01503	0.061000	0.14366	0.230000	0.21059	-1.460000	0.01027	TGT	SLCO6A1	-	tigrfam_OA_transporter	ENSG00000205359		0.522	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	HGNC	protein_coding	OTTHUMT00000370335.1	-	0	27	0	A	NM_173488		101834246	-1	tier1	-	no_errors	ENST00000379807	ensembl	human	known	74_37	nonsense	67.65	11	23	SNP	0.779	T	T	101834246	A	T	101834246	4	4	52	1	0	0	0	0	0	1	0	0	14777	41	2	5	1908	5	SLCO6A1	5	101834246	Nonsense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	8757253	101834246	79081014	259	12599											
TRIM36	55521	genome.wustl.edu	37	chr5	114499432	114499432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaaatgagctccctttcGatattcttaatggtaacctt	10	14	8	9	1	1	1	0	1	1	0	3	2	2	1	2	2	2	3	2	2	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:114499432G>A	ENST00000282369.3	-	2	202	c.81C>T	c.(79-81)atC>atT	p.I27I	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000513154.1_Silent_p.I15I|TRIM36_ENST00000514154.1_Intron	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	27					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCTCCCTTTCGATATTCTTAA	0.383																																																	0													80	75	76					5																	114499432		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.81C>T	5.37:g.114499432G>A			A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I27	ENST00000282369.3	37	c.81	CCDS4115.1	5																																																																																			TRIM36	-	NULL	ENSG00000152503		0.383	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	-	0	27	0	G	NM_018700		114499432	-1	tier1	-	no_errors	ENST00000282369	ensembl	human	known	74_37	silent	78.57	3	11	SNP	1.000	A	A	114499432	G	A	114499432	2	1	52	1	0	0	0	0	0	0	0	1	16558	1048	37	1		1	TRIM36	5	114499432	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	12665186	114499432	66415828	260	12600											
ZNF608	57507	genome.wustl.edu	37	chr5	124036909	124036909	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtagaatctgaggcgtGagactgctggaaatcggcgg	10	7	18	6	3	1	3	0	2	1	2	2	6	1	4	0	5	1	2	0	5	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:124036909G>T	ENST00000306315.5	-	2	1395	c.960C>A	c.(958-960)ctC>ctA	p.L320L	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	320							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCTGAGGCGTGAGACTGCTGG	0.512																																																	0													143	138	140					5																	124036909		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.960C>A	5.37:g.124036909G>T			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	NULL	p.L320	ENST00000306315.5	37	c.960	CCDS34219.1	5																																																																																			ZNF608	-	NULL	ENSG00000168916		0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1		0	49	0	G	XM_114432		124036909	-1			no_errors	ENST00000306315	ensembl	human	known	74_37	silent	5.08	56	3	SNP	1.000	T	T	124036909	G	T	124036909	2	4	52	1	0	0	0	0	0	0	0	1	18082	1277	45	3		3	ZNF608	5	124036909	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	9537477	124036909	56878351	261	12601											
ANKRD43	134548	genome.wustl.edu	37	chr5	132150631	132150631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgcgccgccttcttggcGatccaggcctgcgaggcacc	4	7	13	17	5	1	0	0	0	1	0	2	2	2	0	5	3	2	2	5	3	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:132150631G>A	ENST00000378693.2	+	1	1599	c.1318G>A	c.(1318-1320)Gat>Aat	p.D440N	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	440																	CCTTCTTGGCGATCCAGGCCT	0.701																																																	0													12	12	12					5																	132150631		2174	4270	6444	SO:0001583	missense	0			AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"Ankyrin repeat domain containing"	27033	protein-coding gene	gene with protein product			"ankyrin repeat domain 43"	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1318G>A	5.37:g.132150631G>A	ENSP00000367965:p.Asp440Asn		Q8NAE7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D440N	ENST00000378693.2	37	c.1318	CCDS43361.1	5	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781907	0.49891	.	.	ENSG00000198944	ENST00000378693	T	0.20738	2.05	5.52	4.66	0.58398	Ankyrin repeat-containing domain (1);	0.410012	0.21123	N	0.079786	T	0.26412	0.0645	M	0.66939	2.045	0.33264	D	0.560113	D	0.54047	0.964	P	0.44447	0.45	T	0.40421	-0.9564	10	0.18710	T	0.47	-33.0171	14.5134	0.67804	0.0709:0.0:0.9291:0.0	.	440	Q2M3V2	ANR43_HUMAN	N	440	ENSP00000367965:D440N	ENSP00000367965:D440N	D	+	1	0	ANKRD43	132178530	1.000000	0.71417	0.891000	0.34965	0.042000	0.13812	4.684000	0.61686	1.461000	0.47929	0.591000	0.81541	GAT	SOWAHA	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000198944		0.701	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHA	HGNC	protein_coding	OTTHUMT00000133062.1	-	0	11	0	G	NM_175873		132150631	1	tier1	-	no_errors	ENST00000378693	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.986	A	A	132150631	G	A	132150631	3	1	52	1	0	0	0	0	1	0	0	0	671	1058	37	1	1320	1	ANKRD43	5	132150631	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	8113722	132150631	48764629	262	12602											
SEC24A	10802	genome.wustl.edu	37	chr5	133997018	133997018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaccttcgcttcatagtGgtcctgctccccgaatgcca	7	11	8	15	2	1	1	1	1	0	0	4	2	3	1	5	1	2	2	5	1	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:133997018G>T	ENST00000398844.2	+	2	595	c.307G>T	c.(307-309)Ggt>Tgt	p.G103C	SEC24A_ENST00000322887.4_Missense_Mutation_p.G103C	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	103	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTTCATAGTGGTCCTGCTCC	0.507																																																	0													142	143	142					5																	133997018		1990	4178	6168	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.307G>T	5.37:g.133997018G>T	ENSP00000381823:p.Gly103Cys		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.G103C	ENST00000398844.2	37	c.307	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291000	0.40494	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97232	-4.3;-4.3	5.15	4.26	0.50523	.	0.305164	0.34178	N	0.004200	D	0.94175	0.8131	L	0.40543	1.245	0.54753	D	0.999987	P	0.38167	0.621	B	0.36186	0.219	D	0.94252	0.7494	10	0.54805	T	0.06	-0.9787	14.2339	0.65911	0.0735:0.0:0.9265:0.0	.	103	O95486	SC24A_HUMAN	C	103	ENSP00000381823:G103C;ENSP00000321749:G103C	ENSP00000321749:G103C	G	+	1	0	SEC24A	134024917	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	3.146000	0.50631	2.674000	0.91012	0.655000	0.94253	GGT	SEC24A	-	NULL	ENSG00000113615		0.507	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	-	0	73	0	G			133997018	1	tier1	-	no_errors	ENST00000398844	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.975	T	T	133997018	G	T	133997018	3	4	52	1	0	0	0	0	1	0	0	0	14039	1348	47	3	313	3	SEC24A	5	133997018	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1846387	133997018	46918242	263	12603											
TMEM173	340061	genome.wustl.edu	37	chr5	138858042	138858042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctggctcactgcacccCgtagcaggttgttgtaatgc	6	10	12	13	2	1	0	1	0	0	0	1	0	1	0	3	2	3	8	3	2	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:138858042C>T	ENST00000330794.4	-	6	905	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	TMEM173_ENST00000511850.1_5'Flank	NM_198282.2	NP_938023.1	Q86WV6	STING_HUMAN	transmembrane protein 173	191	c-di-GMP-binding domain (CBD).				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	cyclic-di-GMP binding (GO:0035438)|cyclic-GMP-AMP binding (GO:0061507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)	p.R191L(1)		endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CACTGCACCCCGTAGCAGGTT	0.527																																																	1	Substitution - Missense(1)	lung(1)											164	161	162					5																	138858042		2203	4300	6503	SO:0001583	missense	0				CCDS4215.1	5q31.2	2009-11-06			ENSG00000184584	ENSG00000184584			27962	protein-coding gene	gene with protein product		612374				12477932	Standard	XM_005268445		Approved	FLJ38577, NET23	uc003lep.3	Q86WV6	OTTHUMG00000129239	ENST00000330794.4:c.572G>A	5.37:g.138858042C>T	ENSP00000331288:p.Arg191Gln		A8K3P6|B6EB35|D6RBX0|D6RE01|D6RID9	Missense_Mutation	SNP	NULL	p.R191Q	ENST00000330794.4	37	c.572	CCDS4215.1	5	.	.	.	.	.	.	.	.	.	.	C	9.450	1.090316	0.20471	.	.	ENSG00000184584	ENST00000330794;ENST00000510817	T;T	0.21543	2.0;2.0	5.49	-7.32	0.01436	.	2.255270	0.01781	N	0.031728	T	0.09024	0.0223	N	0.08118	0	0.09310	N	1	B	0.21753	0.06	B	0.08055	0.003	T	0.19128	-1.0315	10	0.15066	T	0.55	5.0564	8.5251	0.33300	0.0:0.2363:0.2111:0.5526	.	191	Q86WV6	TM173_HUMAN	Q	191	ENSP00000331288:R191Q;ENSP00000427455:R191Q	ENSP00000331288:R191Q	R	-	2	0	TMEM173	138838226	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.353000	0.01090	-1.803000	0.01242	-0.258000	0.10820	CGG	TMEM173	-	NULL	ENSG00000184584		0.527	TMEM173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM173	HGNC	protein_coding	OTTHUMT00000251338.1	-	0	49	0	C	NM_198282		138858042	-1	tier1	-	no_errors	ENST00000330794	ensembl	human	known	74_37	missense	43.42	43	33	SNP	0.000	T	T	138858042	C	T	138858042	3	4	52	1	0	0	0	0	1	0	0	0	16136	652	23	1	579	1	TMEM173	5	138858042	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4861024	138858042	42057218	264	12604											
PCDHA2	56146	genome.wustl.edu	37	chr5	140176199	140176199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgggcagcaacgtgacGctgcaggtgttcgtgctgga	6	9	15	11	3	1	1	0	1	1	0	2	2	1	2	1	3	4	6	1	3	1	1	rs544759315		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140176199G>A	ENST00000526136.1	+	1	1650	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.T550T|PCDHA2_ENST00000378132.1_Silent_p.T550T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	550	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.682													.|||	1	0.000199681	0	0.0014	5008	,	,		18005	0		0	False		,,,				2504	0																0													71	73	72					5																	140176199		2203	4295	6498	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1650G>A	5.37:g.140176199G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T550	ENST00000526136.1	37	c.1650	CCDS54914.1	5																																																																																			PCDHA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204969		0.682	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0	98	0	G	NM_018905		140176199	1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	31.19	139	63	SNP	0.518	A	A	140176199	G	A	140176199	2	1	52	1	0	0	0	0	0	0	0	1	11563	1074	38	1		1	PCDHA2	5	140176199	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1318157	140176199	40739061	265	12605											
PCDHA13	56136	genome.wustl.edu	37	chr5	140262129	140262129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattctcggatcgaccgCgaggagctgtgtgggcggag	7	8	18	8	5	1	1	0	1	1	0	3	6	1	4	1	4	1	1	1	4	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140262129C>T	ENST00000289272.2	+	1	276	c.276C>T	c.(274-276)cgC>cgT	p.R92R	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.R92R|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCGACCGCGAGGAGCTGT	0.587																																					Melanoma(147;1739 1852 5500 27947 37288)												0													121	133	129					5																	140262129		2203	4297	6500	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.276C>T	5.37:g.140262129C>T			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R92	ENST00000289272.2	37	c.276	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.587	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	58	0	C	NM_018904		140262129	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	silent	48.80	63	61	SNP	0.551	T	T	140262129	C	T	140262129	2	4	52	1	0	0	0	0	0	0	0	1	11562	755	27	1		1	PCDHA13	5	140262129	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	85930	140262129	40653131	266	12606											
PCDHB3	56132	genome.wustl.edu	37	chr5	140480982	140480982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccgctctatgaggttgCagttctagagaatacccccg	10	9	10	12	2	2	2	0	1	2	1	2	3	2	2	3	1	3	4	3	1	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140480982C>T	ENST00000231130.2	+	1	749	c.749C>T	c.(748-750)gCa>gTa	p.A250V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATGAGGTTGCAGTTCTAGAG	0.463																																																	0													68	74	72					5																	140480982		2203	4300	6503	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.749C>T	5.37:g.140480982C>T	ENSP00000231130:p.Ala250Val		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A250V	ENST00000231130.2	37	c.749	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207822	0.06180	.	.	ENSG00000113205	ENST00000231130	T	0.52295	0.67	4.93	3.78	0.43462	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.26666	0.0652	N	0.10782	0.045	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.17289	-1.0374	9	0.72032	D	0.01	.	4.8561	0.13561	0.5:0.3439:0.156:0.0	.	250	Q9Y5E6	PCDB3_HUMAN	V	250	ENSP00000231130:A250V	ENSP00000231130:A250V	A	+	2	0	PCDHB3	140461166	0.000000	0.05858	0.025000	0.17156	0.013000	0.08279	-0.330000	0.07925	0.840000	0.34995	-0.262000	0.10625	GCA	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113205		0.463	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	22	0	C	NM_018937		140480982	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	78.26	5	18	SNP	0.000	T	T	140480982	C	T	140480982	3	4	52	1	0	0	0	0	1	0	0	0	11582	710	25	3	751	3	PCDHB3	5	140480982	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	218853	140480982	40434278	267	12607											
PCDHB16	57717	genome.wustl.edu	37	chr5	140563150	140563150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctgcaggtggtggAcgtgaatgacaatcccccac	8	10	10	13	1	2	2	0	2	2	0	4	3	3	3	3	3	1	1	3	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140563150A>G	ENST00000361016.2	+	1	2171	c.1016A>G	c.(1015-1017)gAc>gGc	p.D339G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	339	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGTGGTGGACGTGAATGAC	0.502																																																	0													94	101	98					5																	140563150		2203	4300	6503	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1016A>G	5.37:g.140563150A>G	ENSP00000354293:p.Asp339Gly		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D339G	ENST00000361016.2	37	c.1016	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881071	0.51801	.	.	ENSG00000196963	ENST00000361016	T	0.03553	3.89	4.47	4.47	0.54385	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.35525	N	0.003141	T	0.30885	0.0779	H	0.98178	4.165	0.48632	D	0.999687	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.54323	-0.8311	10	0.87932	D	0	.	13.7715	0.63029	1.0:0.0:0.0:0.0	.	29;339	O15199;Q9NRJ7	.;PCDBG_HUMAN	G	339	ENSP00000354293:D339G	ENSP00000354293:D339G	D	+	2	0	PCDHB16	140543334	1.000000	0.71417	0.171000	0.22900	0.053000	0.15095	7.432000	0.80349	1.648000	0.50643	0.482000	0.46254	GAC	PCDHB16	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000196963		0.502	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0	28	0	A	NM_020957		140563150	1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.999	G	G	140563150	A	G	140563150	3	3	52	1	0	0	0	0	1	0	0	0	11580	275	10	4	1018	4	PCDHB16	5	140563150	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	82168	140563150	40352110	268	12608											
PCDHB16	57717	genome.wustl.edu	37	chr5	140563850	140563850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaacggctccgcgccctgCactgagctggtgccccgggc	5	5	14	17	4	0	2	0	1	0	1	1	2	1	2	4	3	4	3	4	3	1	0	rs568748617		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140563850C>T	ENST00000361016.2	+	1	2871	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	572	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGCCCTGCACTGAGCTGG	0.701													C|||	1	0.000199681	0	0	5008	,	,		12789	0		0	False		,,,				2504	0.001																0													16	19	18					5																	140563850		1985	3943	5928	SO:0001819	synonymous_variant	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1716C>T	5.37:g.140563850C>T			B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C572	ENST00000361016.2	37	c.1716	CCDS4251.1	5																																																																																			PCDHB16	-	superfamily_Cadherin-like	ENSG00000196963		0.701	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0	43	0	C	NM_020957		140563850	1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	silent	23.76	138	43	SNP	0.966	T	T	140563850	C	T	140563850	2	4	52	1	0	0	0	0	0	0	0	1	11580	718	25	3		3	PCDHB16	5	140563850	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	700	140563850	40351410	269	12609											
PCDHB15	56121	genome.wustl.edu	37	chr5	140626827	140626827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgacaactcgcccttcGtgctgtacccgctgcagaac	9	7	8	17	4	0	1	0	0	0	1	2	2	0	1	3	0	6	4	3	0	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140626827G>A	ENST00000231173.3	+	1	1681	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V561M(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.726																																																	1	Substitution - Missense(1)	endometrium(1)											17	21	19					5																	140626827		2193	4285	6478	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1681G>A	5.37:g.140626827G>A	ENSP00000231173:p.Val561Met		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V561M	ENST00000231173.3	37	c.1681	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042784	0.55003	.	.	ENSG00000113248	ENST00000231173	T	0.02050	4.48	4.17	2.98	0.34508	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.06142	0.0159	L	0.48174	1.505	0.28046	N	0.933543	D	0.71674	0.998	P	0.62885	0.908	T	0.21621	-1.0240	9	0.87932	D	0	.	5.9992	0.19511	0.3338:0.0:0.6662:0.0	.	561	Q9Y5E8	PCDBF_HUMAN	M	561	ENSP00000231173:V561M	ENSP00000231173:V561M	V	+	1	0	PCDHB15	140607011	0.110000	0.22057	1.000000	0.80357	0.997000	0.91878	0.603000	0.24149	2.066000	0.61787	0.479000	0.44913	GTG	PCDHB15	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113248		0.726	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	-	0	91	0	G	NM_018935		140626827	1	tier1	-	no_errors	ENST00000231173	ensembl	human	known	74_37	missense	69.32	53	122	SNP	0.655	A	A	140626827	G	A	140626827	3	1	52	1	0	0	0	0	1	0	0	0	11579	1145	40	1	1683	1	PCDHB15	5	140626827	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	62977	140626827	40288433	270	12610											
PCDHGB2	56103	genome.wustl.edu	37	chr5	140741195	140741195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcgagcgacctgaagcCgcgggagattttatcctacg	9	8	13	11	6	0	2	0	1	0	1	1	5	1	2	3	1	4	1	3	1	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140741195C>T	ENST00000522605.1	+	1	1493	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_5'Flank	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGAAGCCGCGGGAGATT	0.612																																																	0													37	39	39					5																	140741195		1933	4128	6061	SO:0001583	missense	0			AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"Cadherins / Protocadherins : Clustered"	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1493C>T	5.37:g.140741195C>T	ENSP00000429018:p.Pro498Leu		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P498L	ENST00000522605.1	37	c.1493	CCDS54924.1	5	.	.	.	.	.	.	.	.	.	.	.	6.523	0.464803	0.12402	.	.	ENSG00000253910	ENST00000522605	T	0.61510	0.1	5.18	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67382	0.2887	L	0.52126	1.63	0.09310	N	1	P;D	0.89917	0.746;1.0	B;D	0.76575	0.262;0.988	T	0.55685	-0.8102	9	0.56958	D	0.05	.	8.1573	0.31176	0.2627:0.6581:0.0:0.0792	.	498;498	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	L	498	ENSP00000429018:P498L	ENSP00000429018:P498L	P	+	2	0	PCDHGB2	140721379	0.797000	0.28877	0.897000	0.35233	0.036000	0.12997	2.200000	0.42724	2.564000	0.86499	0.467000	0.42956	CCG	PCDHGB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253910		0.612	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB2	HGNC	protein_coding	OTTHUMT00000374741.1	-	0	43	0	C	NM_018923		140741195	1	tier1	-	no_errors	ENST00000522605	ensembl	human	known	74_37	missense	77.78	12	42	SNP	0.078	T	T	140741195	C	T	140741195	3	4	52	1	0	0	0	0	1	0	0	0	11602	652	23	1	1495	1	PCDHGB2	5	140741195	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	114368	140741195	40174065	271	12611											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140768214	140768214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagcctttcagaaaacGtgtacccggggaccacggtg	9	7	15	10	3	1	2	1	1	0	1	1	3	1	3	3	4	3	1	3	4	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:140768214G>A	ENST00000519479.1	+	1	763	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAAACGTGTACCCGGG	0.507																																																	0													164	167	166					5																	140768214		2050	4197	6247	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.763G>A	5.37:g.140768214G>A	ENSP00000428288:p.Val255Met		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V255M	ENST00000519479.1	37	c.763	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	7.748	0.702630	0.15172	.	.	ENSG00000253953	ENST00000519479	T	0.52754	0.65	4.99	0.846	0.18955	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31451	0.0797	L	0.43923	1.385	0.09310	N	1	P;P	0.46656	0.857;0.882	B;B	0.39379	0.197;0.298	T	0.29761	-1.0001	9	0.51188	T	0.08	.	0.3643	0.00369	0.2568:0.245:0.2831:0.215	.	255;255	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	M	255	ENSP00000428288:V255M	ENSP00000428288:V255M	V	+	1	0	PCDHGB4	140748398	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.367000	0.07553	0.589000	0.29677	0.655000	0.94253	GTG	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000253953		0.507	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	-	0	21	0	G	NM_003736		140768214	1	tier1	-	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	28.57	40	16	SNP	0.000	A	A	140768214	G	A	140768214	3	1	52	1	0	0	0	0	1	0	0	0	11604	1145	40	1	765	1	PCDHGB4	5	140768214	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	27019	140768214	40147046	272	12612											
ARSI	340075	genome.wustl.edu	37	chr5	149677873	149677873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcatagtggagtactggCcgctgagcccccaggccaca	11	5	12	13	1	0	1	0	1	0	0	0	2	0	2	4	3	3	3	4	3	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:149677873C>T	ENST00000328668.7	-	2	1193	c.614G>A	c.(613-615)gGc>gAc	p.G205D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	205					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACTGGCCGCTGAGCCC	0.602																																																	0													59	57	58					5																	149677873		2202	4300	6502	SO:0001583	missense	0			AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"Arylsulfatase family"	32521	protein-coding gene	gene with protein product		610009	"arylsulfatase I"			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.614G>A	5.37:g.149677873C>T	ENSP00000333395:p.Gly205Asp		A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G205D	ENST00000328668.7	37	c.614	CCDS34275.1	5	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174047	0.78452	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.98822	-5.16;-5.16;-5.16	4.31	4.31	0.51392	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.51188	T	0.08	.	17.3349	0.87277	0.0:1.0:0.0:0.0	.	205	Q5FYB1	ARSI_HUMAN	D	205;62;62	ENSP00000333395:G205D;ENSP00000426879:G62D;ENSP00000420955:G62D	ENSP00000333395:G205D	G	-	2	0	ARSI	149658066	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.601000	0.82783	2.396000	0.81511	0.555000	0.69702	GGC	ARSI	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000183876		0.602	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSI	HGNC	protein_coding	OTTHUMT00000373681.1	-	0	17	0	C	NM_001012301		149677873	-1	tier1	-	no_errors	ENST00000328668	ensembl	human	known	74_37	missense	72.92	13	35	SNP	1.000	T	T	149677873	C	T	149677873	3	4	52	1	0	0	0	0	1	0	0	0	995	739	26	3	1099	3	ARSI	5	149677873	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	8909659	149677873	31237387	273	12613											
ZNF300	91975	genome.wustl.edu	37	chr5	150275828	150275828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacattcagaacaatcatAaggtttctccccagtatgag	13	11	6	11	0	3	2	2	1	1	1	5	2	4	2	3	1	1	2	3	1	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:150275828A>G	ENST00000274599.5	-	6	1393	c.973T>C	c.(973-975)Tat>Cat	p.Y325H	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.Y341H|ZNF300_ENST00000418587.2_Missense_Mutation_p.Y289H|ZNF300_ENST00000394226.2_Missense_Mutation_p.Y325H	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAACAATCATAAGGTTTCTCC	0.403																																																	0													82	88	86					5																	150275828		2202	4299	6501	SO:0001583	missense	0			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"Zinc fingers, C2H2-type", "-"	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.973T>C	5.37:g.150275828A>G	ENSP00000274599:p.Tyr325His		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y341H	ENST00000274599.5	37	c.1021	CCDS4311.2	5	.	.	.	.	.	.	.	.	.	.	A	17.22	3.334760	0.60853	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	3.59	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35941	0.0949	L	0.45051	1.395	0.26140	N	0.980295	D	0.71674	0.998	D	0.72338	0.977	T	0.06445	-1.0826	9	0.87932	D	0	.	10.4444	0.44486	1.0:0.0:0.0:0.0	.	325	Q96RE9	ZN300_HUMAN	H	341;325;289;325	ENSP00000397178:Y341H;ENSP00000274599:Y325H;ENSP00000392593:Y289H;ENSP00000377773:Y325H	ENSP00000274599:Y325H	Y	-	1	0	ZNF300	150256021	0.911000	0.30947	0.996000	0.52242	0.993000	0.82548	8.122000	0.89584	1.633000	0.50488	0.460000	0.39030	TAT	ZNF300	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000145908		0.403	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		-	0	46	0	A	NM_052860		150275828	-1	tier1	-	no_errors	ENST00000446148	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.888	G	G	150275828	A	G	150275828	3	3	52	1	0	0	0	0	1	0	0	0	17879	362	13	4	845	4	ZNF300	5	150275828	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	597955	150275828	30639432	274	12614											
FAT2	2196	genome.wustl.edu	37	chr5	150922881	150922882	+	Frame_Shift_Del	DEL	GA	GA	-																															ggccaacacctggataaccgGagagtctttactgacattgg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:150922881_150922882delGA	ENST00000261800.5	-	9	7818_7819	c.7806_7807delTC	c.(7804-7809)tctccgfs	p.P2603fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2603	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATAACCGGAGAGTCTTTAC	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7806_7807delTC	5.37:g.150922883_150922884delGA	ENSP00000261800:p.Pro2603fs		O75091|Q9NSR7	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P2603fs	ENST00000261800.5	37	c.7807_7806	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.45	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0	111	0	GA	NM_001447		150922882	-1	tier1		no_errors	ENST00000261800	ensembl	human	known	74_37	frame_shift_del	59.66	48	71	DEL	1.000:1.000	-	-	150922882	GA	-	150922881	7	5	52	1	0	1	0	1	0	0	0	0	5712	1174	41	0	5302	0	FAT2	5	150922881	Frame_Shift_Del	DEL	GA	TCGA-L5-A43J-01A-12D-A247-09	647053	150922881	29992379	275	12615											
ADAM19	8728	genome.wustl.edu	37	chr5	156946869	156946869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggtcgcttcttggtcTgttgtgtaaactgaagagcc	7	13	13	8	2	2	2	0	1	2	1	3	3	2	2	1	2	3	3	1	2	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:156946869T>C	ENST00000517905.1	-	6	622	c.578A>G	c.(577-579)cAg>cGg	p.Q193R	ADAM19_ENST00000257527.4_Missense_Mutation_p.Q193R|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.Q195R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	193					heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTTGGTCTGTTGTGTAAA	0.532																																																	0													96	102	100					5																	156946869		2203	4300	6503	SO:0001583	missense	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.578A>G	5.37:g.156946869T>C	ENSP00000428654:p.Gln193Arg		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q195R	ENST00000517905.1	37	c.584		5	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375395	0.24857	.	.	ENSG00000135074	ENST00000257527;ENST00000394020;ENST00000517905	T;T;T	0.01495	4.85;4.86;4.83	5.67	4.49	0.54785	.	0.301012	0.29046	N	0.013301	T	0.02156	0.0067	L	0.60455	1.87	0.28717	N	0.903234	B	0.16166	0.016	B	0.11329	0.006	T	0.39440	-0.9614	10	0.17832	T	0.49	.	5.1757	0.15133	0.1593:0.0829:0.0:0.7578	.	193	Q9H013-2	.	R	193;195;193	ENSP00000257527:Q193R;ENSP00000377588:Q195R;ENSP00000428654:Q193R	ENSP00000257527:Q193R	Q	-	2	0	ADAM19	156879447	0.746000	0.28272	0.992000	0.48379	0.976000	0.68499	0.247000	0.18179	0.955000	0.37878	0.533000	0.62120	CAG	ADAM19	-	NULL	ENSG00000135074		0.532	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	HGNC	protein_coding	OTTHUMT00000373918.1	-	0	49	0	T	NM_033274		156946869	-1	tier1	-	no_errors	ENST00000394020	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.995	C	C	156946869	T	C	156946869	3	2	52	1	0	0	0	0	1	0	0	0	240	1580	55	4	2250	4	ADAM19	5	156946869	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	6023988	156946869	23968391	276	12616											
ODZ2	57451	genome.wustl.edu	37	chr5	167674984	167674984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcggagattacctcactgtActacgacctccagggccacc	9	8	8	16	2	1	1	1	0	0	1	3	3	2	1	5	2	3	1	5	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:167674984A>G	ENST00000518659.1	+	27	7079	c.7040A>G	c.(7039-7041)tAc>tGc	p.Y2347C	TENM2_ENST00000403607.2_Missense_Mutation_p.Y2171C|TENM2_ENST00000545108.1_Missense_Mutation_p.Y2346C|TENM2_ENST00000520394.1_Missense_Mutation_p.Y2108C|TENM2_ENST00000519204.1_Missense_Mutation_p.Y2226C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2347					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										ACCTCACTGTACTACGACCTC	0.552																																																	0													110	114	113					5																	167674984		2067	4224	6291	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7040A>G	5.37:g.167674984A>G	ENSP00000429430:p.Tyr2347Cys		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Y2347C	ENST00000518659.1	37	c.7040		5	.	.	.	.	.	.	.	.	.	.	a	17.70	3.454049	0.63290	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90197	-2.15;-2.14;-2.26;-2.61;-2.63	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95620	0.8576	M	0.85710	2.77	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.96211	0.9153	10	0.72032	D	0.01	.	15.4838	0.75548	1.0:0.0:0.0:0.0	.	2346;2347;2108	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	2347;2346;2226;2108;2171	ENSP00000429430:Y2347C;ENSP00000438635:Y2346C;ENSP00000428964:Y2226C;ENSP00000427874:Y2108C;ENSP00000384905:Y2171C	ENSP00000384905:Y2171C	Y	+	2	0	ODZ2	167607562	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.336000	0.96533	2.064000	0.61679	0.454000	0.30748	TAC	TENM2	-	NULL	ENSG00000145934		0.552	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0	34	0	A	NM_001122679		167674984	1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	83.33	5	25	SNP	1.000	G	G	167674984	A	G	167674984	3	3	52	1	0	0	0	0	1	0	0	0	10874	391	14	4	7119	4	ODZ2	5	167674984	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	10728115	167674984	13240276	277	12617											
SH3PXD2B	285590	genome.wustl.edu	37	chr5	171809111	171809111	+	Frame_Shift_Del	DEL	G	G	-																															tcatcacactgagagatgtaGgggggcagctggatgagggc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:171809111delG	ENST00000311601.5	-	5	500	c.330delC	c.(328-330)cccfs	p.P110fs	SH3PXD2B_ENST00000519643.1_Frame_Shift_Del_p.P110fs	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGAGATGTAGGGGGGCAGCT	0.557																																																	0													29	31	30					5																	171809111		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"KIAA1295"	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.330delC	5.37:g.171809111delG	ENSP00000309714:p.Pro110fs		B6F0V2|Q9P2Q1	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.Y111fs	ENST00000311601.5	37	c.330	CCDS34291.1	5																																																																																			SH3PXD2B	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000174705		0.557	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	HGNC	protein_coding	OTTHUMT00000372449.1		0	17	0	G	NM_017963		171809111	-1	tier1		no_errors	ENST00000311601	ensembl	human	known	74_37	frame_shift_del	81.40	8	35	DEL	1.000	-	-	171809111	G	-	171809111	7	5	52	1	0	1	0	1	0	0	0	0	14302	987	35	0	2441	0	SH3PXD2B	5	171809111	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	4134127	171809111	9106149	278	12618											
FAM153B	202134	genome.wustl.edu	37	chr5	175516516	175516516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgaagatgtcctgggcGttcatatggtaagttcttct	8	15	10	8	1	4	2	1	1	3	1	5	2	5	2	1	2	0	3	1	2	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:175516516G>A	ENST00000253490.4	+	3	283	c.226G>A	c.(226-228)Gtt>Att	p.V76I	FAM153B_ENST00000512862.1_5'UTR|FAM153B_ENST00000515817.1_5'UTR|FAM153B_ENST00000510151.1_5'UTR			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	76										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGTCCTGGGCGTTCATATGGT	0.378																																																	0													2	2	2					5																	175516516		812	2147	2959	SO:0001583	missense	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.226G>A	5.37:g.175516516G>A	ENSP00000253490:p.Val76Ile		A8MTI1	Missense_Mutation	SNP	prints_FAM153	p.V76I	ENST00000253490.4	37	c.226		5	.	.	.	.	.	.	.	.	.	.	G	6.448	0.450742	0.12223	.	.	ENSG00000182230	ENST00000253490	.	.	.	0.778	-0.876	0.10624	.	.	.	.	.	T	0.17450	0.0419	N	0.19112	0.55	0.29292	N	0.869313	P	0.35226	0.491	B	0.29440	0.102	T	0.16808	-1.0390	8	0.87932	D	0	.	2.9203	0.05766	0.6283:0.0:0.3717:0.0	.	76	P0C7A2	F153B_HUMAN	I	76	.	ENSP00000253490:V76I	V	+	1	0	FAM153B	175449122	0.346000	0.24844	0.000000	0.03702	0.000000	0.00434	-0.341000	0.07811	-0.239000	0.09710	-0.474000	0.04947	GTT	FAM153B	-	NULL	ENSG00000182230		0.378	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		-	0	13	0	G	NM_001079529		175516516	1	tier1	-	no_errors	ENST00000253490	ensembl	human	known	74_37	missense	64.71	6	11	SNP	0.000	A	A	175516516	G	A	175516516	3	1	52	1	0	0	0	0	1	0	0	0	5480	1145	40	1	236	1	FAM153B	5	175516516	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3707405	175516516	5398744	279	12619											
PDLIM7	9260	genome.wustl.edu	37	chr5	176910724	176910724	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccttccaggttgatcTgacatatctaaggacagcaa	11	13	7	10	0	3	2	0	2	3	0	5	3	5	3	2	2	1	2	2	2	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:176910724T>G	ENST00000355841.2	-	13	1361	c.1295A>C	c.(1294-1296)cAg>cCg	p.Q432P	PDLIM7_ENST00000359895.2_Missense_Mutation_p.Q398P|PDLIM7_ENST00000356618.4_3'UTR|PDLIM7_ENST00000505746.1_5'Flank	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	432	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTTGATCTGACATATCTA	0.557																																																	0													67	62	63					5																	176910724		2203	4300	6503	SO:0001583	missense	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1295A>C	5.37:g.176910724T>G	ENSP00000348099:p.Gln432Pro		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.Q432P	ENST00000355841.2	37	c.1295	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	T	17.17	3.321917	0.60634	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	D;D	0.88509	-2.39;-2.39	5.55	5.55	0.83447	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000008	D	0.94411	0.8202	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.981;0.997	D	0.93878	0.7168	10	0.36615	T	0.2	.	15.4086	0.74900	0.0:0.0:0.0:1.0	.	432;398	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	P	398;432	ENSP00000352964:Q398P;ENSP00000348099:Q432P	ENSP00000348099:Q432P	Q	-	2	0	PDLIM7	176843330	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.112000	0.57845	2.132000	0.65825	0.454000	0.30748	CAG	PDLIM7	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000196923		0.557	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	-	0	30	0	T	NM_005451		176910724	-1	tier1	-	no_errors	ENST00000355841	ensembl	human	known	74_37	missense	83.64	9	46	SNP	1.000	G	G	176910724	T	G	176910724	3	3	52	1	0	0	0	0	1	0	0	0	11723	1580	55	4	82	4	PDLIM7	5	176910724	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1394208	176910724	4004536	280	12620											
TBC1D9B	23061	genome.wustl.edu	37	chr5	179306764	179306764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggctggcgggctgctccGacccctcctgaggagctggg	3	7	17	14	2	0	1	0	1	0	0	2	3	2	2	4	5	2	4	4	5	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr5:179306764G>A	ENST00000356834.3	-	8	1317	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S427L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	427						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTGCTCCGACCCCTCCTG	0.637																																																	0													21	27	25					5																	179306764		2201	4298	6499	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"EF-hand domain containing"	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1280C>T	5.37:g.179306764G>A	ENSP00000349291:p.Ser427Leu		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.S427L	ENST00000356834.3	37	c.1280	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400959	0.25291	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.09911	2.93;3.01	4.67	1.39	0.22231	.	1.647340	0.03295	N	0.188122	T	0.13670	0.0331	M	0.71581	2.175	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.003	B;B;B	0.10450	0.002;0.005;0.002	T	0.33574	-0.9863	10	0.35671	T	0.21	2.8138	1.5725	0.02618	0.2076:0.3538:0.2966:0.142	.	427;427;427	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	L	427	ENSP00000349291:S427L;ENSP00000347375:S427L	ENSP00000347375:S427L	S	-	2	0	TBC1D9B	179239370	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.562000	0.23531	0.058000	0.16222	0.550000	0.68814	TCG	TBC1D9B	-	NULL	ENSG00000197226		0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	-	0	21	0	G	NM_015043		179306764	-1	tier1	-	no_errors	ENST00000356834	ensembl	human	known	74_37	missense	73.81	11	31	SNP	0.000	A	A	179306764	G	A	179306764	3	1	52	1	0	0	0	0	1	0	0	0	15675	1059	37	1	2532	1	TBC1D9B	5	179306764	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2396040	179306764	1608496	281	12621											
RIOK1	83732	genome.wustl.edu	37	chr6	7404247	7404247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtcatgagtttcatcGgtaaagatgacatgtaagta	12	15	9	5	1	3	3	2	2	1	1	4	3	3	3	0	1	0	4	0	1	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:7404247G>T	ENST00000379834.2	+	9	1348	c.841G>T	c.(841-843)Ggt>Tgt	p.G281C		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	281	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GAGTTTCATCGGTAAAGATGA	0.338																																																	0													197	193	195					6																	7404247		2203	4299	6502	SO:0001583	missense	0			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.841G>T	6.37:g.7404247G>T	ENSP00000369162:p.Gly281Cys		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.G281C	ENST00000379834.2	37	c.841	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527033	0.85706	.	.	ENSG00000124784	ENST00000379834	T	0.08896	3.04	5.56	5.56	0.83823	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.094060	0.64402	D	0.000001	T	0.37293	0.0998	H	0.96518	3.835	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.56896	-0.7903	10	0.87932	D	0	-16.3219	18.5914	0.91214	0.0:0.0:1.0:0.0	.	281	Q9BRS2	RIOK1_HUMAN	C	281	ENSP00000369162:G281C	ENSP00000369162:G281C	G	+	1	0	RIOK1	7349246	1.000000	0.71417	0.954000	0.39281	0.771000	0.43674	9.400000	0.97290	2.623000	0.88846	0.650000	0.86243	GGT	RIOK1	-	pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	ENSG00000124784		0.338	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	-	0	65	0	G	NM_031480		7404247	1	tier1	-	no_errors	ENST00000379834	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	T	T	7404247	G	T	7404247	3	4	52	1	0	0	0	0	1	0	0	0	13422	1116	39	2	875	2	RIOK1	6	7404247	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		7404247	163710820	282	12622											
TFAP2A	7020	genome.wustl.edu	37	chr6	10407037	10407038	+	Frame_Shift_Del	DEL	AC	AC	-																															atggcttacctttcttaattAcagtttgatctgggatgtta																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:10407037_10407038delAC	ENST00000482890.1	-	4	872_873	c.520_521delGT	c.(520-522)gtafs	p.V174fs	TFAP2A_ENST00000319516.4_Frame_Shift_Del_p.V170fs|TFAP2A_ENST00000379613.3_Frame_Shift_Del_p.V176fs|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379608.3_Frame_Shift_Del_p.V168fs|TFAP2A_ENST00000379604.2_Frame_Shift_Del_p.V174fs|TFAP2A_ENST00000497266.1_5'UTR			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	174					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTTCTTAATTACAGTTTGATCT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.520_521delGT	6.37:g.10407037_10407038delAC	ENSP00000418541:p.Val174fs		Q13777|Q5TAV5|Q8N1C6	Frame_Shift_Del	DEL	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.V174fs	ENST00000482890.1	37	c.521_520	CCDS4510.1	6																																																																																			TFAP2A	-	NULL	ENSG00000137203		0.361	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2		0	45	0	AC	NM_003220		10407038	-1	tier1		no_errors	ENST00000379604	ensembl	human	known	74_37	frame_shift_del	27.27	32	12	DEL	1.000:1.000	-	-	10407038	AC	-	10407037	7	5	52	1	0	1	0	1	0	0	0	0	15834	391	14	0	812	0	TFAP2A	6	10407037	Frame_Shift_Del	DEL	AC	TCGA-L5-A43J-01A-12D-A247-09	3002790	10407037	160708030	283	12623											
CAP2	10486	genome.wustl.edu	37	chr6	17507510	17507510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcatctttcggccgtcagCgaaagcatccctgcccttgg	8	10	9	14	3	3	0	2	0	1	0	5	1	4	0	3	2	3	1	3	2	2	2	rs556554484		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:17507510C>T	ENST00000229922.2	+	5	943	c.411C>T	c.(409-411)agC>agT	p.S137S	CAP2_ENST00000378990.2_Silent_p.S111S|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Silent_p.S137S|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	137					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CGGCCGTCAGCGAAAGCATCC	0.473													C|||	1	0.000199681	0	0	5008	,	,		19777	0		0	False		,,,				2504	0.001																0													131	103	113					6																	17507510		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.411C>T	6.37:g.17507510C>T			B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.S137	ENST00000229922.2	37	c.411	CCDS4539.1	6																																																																																			CAP2	-	pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N	ENSG00000112186		0.473	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAP2	HGNC	protein_coding	OTTHUMT00000039952.2	-	0	70	0	C			17507510	1	tier1	-	no_errors	ENST00000229922	ensembl	human	known	74_37	silent	29.63	38	16	SNP	0.991	T	T	17507510	C	T	17507510	2	4	52	1	0	0	0	0	0	0	0	1	2627	767	27	1		1	CAP2	6	17507510	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	7100473	17507510	153607557	284	12624											
LRRC16A	55604	genome.wustl.edu	37	chr6	25435803	25435803	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacataggcacctgcctGaggaagatatttcctggcct	9	10	10	12	0	1	2	1	1	0	1	2	3	2	3	4	3	1	2	4	3	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:25435803G>T	ENST00000329474.6	+	5	710	c.342G>T	c.(340-342)ctG>ctT	p.L114L	snoU13_ENST00000458807.1_RNA|LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	114					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCACCTGCCTGAGGAAGATAT	0.512																																																	0													57	61	60					6																	25435803		2036	4168	6204	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.342G>T	6.37:g.25435803G>T			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L114	ENST00000329474.6	37	c.342	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.512	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0	24	0	G	NM_017640		25435803	1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	17.65	14	3	SNP	0.968	T	T	25435803	G	T	25435803	2	4	52	1	0	0	0	0	0	0	0	1	9006	1277	45	3		3	LRRC16A	6	25435803	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	7928293	25435803	145679264	285	12625											
LRRC16A	55604	genome.wustl.edu	37	chr6	25495432	25495432	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcacaaaactgtctccTgagcccttaaagtgagtggt	11	10	10	10	0	2	2	1	2	1	0	3	2	2	2	2	2	2	1	2	2	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:25495432T>C	ENST00000329474.6	+	16	1682	c.1314T>C	c.(1312-1314)ccT>ccC	p.P438P		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	438					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AACTGTCTCCTGAGCCCTTAA	0.373																																																	0													101	93	96					6																	25495432		1835	4080	5915	SO:0001819	synonymous_variant	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1314T>C	6.37:g.25495432T>C			B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P438	ENST00000329474.6	37	c.1314	CCDS54973.1	6																																																																																			LRRC16A	-	NULL	ENSG00000079691		0.373	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0	35	0	T	NM_017640		25495432	1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	silent	23.08	20	6	SNP	0.486	C	C	25495432	T	C	25495432	2	2	52	1	0	0	0	0	0	0	0	1	9006	1567	55	4		4	LRRC16A	6	25495432	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	59629	25495432	145619635	286	12626											
HIST1H3I	8354	genome.wustl.edu	37	chr6	27839733	27839733	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctggatgtctttaggcaTaatagtgacgcgtttggcgt	9	13	13	6	3	1	1	0	1	1	0	1	2	1	2	0	3	1	3	0	3	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:27839733T>A	ENST00000328488.2	-	1	366	c.361A>T	c.(361-363)Atg>Ttg	p.M121L		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	121					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCTTTAGGCATAATAGTGACG	0.557																																																	0													133	145	141					6																	27839733		2203	4300	6503	SO:0001583	missense	0			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"Histones / Replication-dependent"	4771	protein-coding gene	gene with protein product		602814	"H3 histone family, member F", "histone 1, H3i"	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.361A>T	6.37:g.27839733T>A	ENSP00000329554:p.Met121Leu		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.M121L	ENST00000328488.2	37	c.361	CCDS4636.1	6	.	.	.	.	.	.	.	.	.	.	T	13.28	2.188962	0.38707	.	.	ENSG00000182572	ENST00000328488	T	0.70045	-0.45	4.12	4.12	0.48240	.	.	.	.	.	T	0.67135	0.2861	.	.	.	0.33232	D	0.55609	.	.	.	.	.	.	T	0.71699	-0.4514	6	0.87932	D	0	.	13.3331	0.60500	0.0:0.0:0.0:1.0	.	.	.	.	L	121	ENSP00000329554:M121L	ENSP00000329554:M121L	M	-	1	0	HIST1H3I	27947712	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.579000	0.82511	2.086000	0.62901	0.528000	0.53228	ATG	HIST1H3I	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000182572		0.557	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3I	HGNC	protein_coding	OTTHUMT00000043452.1	-	0	43	0	T	NM_003533		27839733	-1	tier1	-	no_errors	ENST00000328488	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A	A	27839733	T	A	27839733	3	1	52	1	0	0	0	0	1	0	0	0	7190	1406	49	5	53	5	HIST1H3I	6	27839733	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2344301	27839733	143275334	287	12627											
HLA-G	3135	genome.wustl.edu	37	chr6	29797635	29797635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccatcatgggtatcgttgCtggcctggttgtccttgcag	4	13	12	12	1	1	0	1	0	0	0	3	0	2	0	4	3	2	5	4	3	1	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:29797635C>T	ENST00000360323.6	+	5	962	c.938C>T	c.(937-939)gCt>gTt	p.A313V	HLA-G_ENST00000376818.3_Missense_Mutation_p.A221V|HLA-G_ENST00000428701.1_Missense_Mutation_p.A313V|HLA-G_ENST00000376815.3_Missense_Mutation_p.A129V|HLA-G_ENST00000376828.2_Missense_Mutation_p.A318V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	313					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GGTATCGTTGCTGGCCTGGTT	0.597																																																	0													108	89	95					6																	29797635		2203	4300	6503	SO:0001583	missense	0				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.938C>T	6.37:g.29797635C>T	ENSP00000353472:p.Ala313Val			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.A318V	ENST00000360323.6	37	c.953	CCDS4668.1	6	.	.	.	.	.	.	.	.	.	.	.	13.48	2.248758	0.39797	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	T;T;T;T;T	0.00753	6.04;6.03;6.03;5.74;6.0	2.23	-1.17	0.09648	.	0.401307	0.17554	U	0.170072	T	0.00754	0.0025	L	0.48218	1.51	0.09310	N	1	B;B;B;D	0.71674	0.005;0.185;0.005;0.998	B;B;B;D	0.81914	0.002;0.053;0.002;0.995	T	0.53070	-0.8490	10	0.59425	D	0.04	.	5.1146	0.14827	0.0:0.4519:0.0:0.5481	.	129;318;221;313	Q29897;Q5RJ85;Q31611;P17693	.;.;.;HLAG_HUMAN	V	318;313;313;221;129	ENSP00000366024:A318V;ENSP00000412927:A313V;ENSP00000353472:A313V;ENSP00000366014:A221V;ENSP00000366011:A129V	ENSP00000353472:A313V	A	+	2	0	HLA-G	29905614	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.508000	0.02266	-0.337000	0.08426	0.291000	0.19559	GCT	HLA-G	-	NULL	ENSG00000204632		0.597	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-G	HGNC	protein_coding	OTTHUMT00000076286.2	-	0	97	0	C	NM_002127		29797635	1	tier1	-	no_errors	ENST00000376828	ensembl	human	known	74_37	missense	31.50	87	40	SNP	0.002	T	T	29797635	C	T	29797635	3	4	52	1	0	0	0	0	1	0	0	0	7239	797	28	3	956	3	HLA-G	6	29797635	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1957902	29797635	141317432	288	12628											
TNXB	7148	genome.wustl.edu	37	chr6	32032631	32032631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagacacggggcccacgcGctggccaccgtggaagccgt	8	3	15	15	5	0	1	0	0	0	1	0	2	0	2	4	4	2	2	4	4	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:32032631G>A	ENST00000375244.3	-	19	7009	c.6808C>T	c.(6808-6810)Cgc>Tgc	p.R2270C	TNXB_ENST00000375247.2_Missense_Mutation_p.R2270C			P22105	TENX_HUMAN	tenascin XB	2342	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGCCCACGCGCTGGCCACCG	0.597																																																	0													49	57	54					6																	32032631		1249	2546	3795	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6808C>T	6.37:g.32032631G>A	ENSP00000364393:p.Arg2270Cys		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R2270C	ENST00000375244.3	37	c.6808		6	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870844	0.91587	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.05025	3.51;3.51	4.82	4.82	0.62117	.	0.000000	0.41823	D	0.000809	T	0.27594	0.0678	H	0.94264	3.515	0.43745	D	0.996249	D	0.89917	1.0	D	0.91635	0.999	T	0.30592	-0.9973	10	0.62326	D	0.03	.	14.9075	0.70730	0.0:0.0:1.0:0.0	.	2270	P22105-3	.	C	2270	ENSP00000364393:R2270C;ENSP00000364396:R2270C	ENSP00000364393:R2270C	R	-	1	0	TNXB	32140609	0.997000	0.39634	0.988000	0.46212	0.429000	0.31625	3.851000	0.55926	2.484000	0.83849	0.591000	0.81541	CGC	TNXB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0	27	0	G	NM_019105		32032631	-1			no_errors	ENST00000375247	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	A	A	32032631	G	A	32032631	3	1	52	1	0	0	0	0	1	0	0	0	16393	1087	38	1	8009	1	TNXB	6	32032631	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2234996	32032631	139082436	289	12629											
AGPAT1	10554	genome.wustl.edu	37	chr6	32138784	32138784	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggagggaagtggtgagcCcctcgcacctccactcggat	8	6	15	12	2	0	1	0	1	0	0	3	5	1	4	4	4	1	1	4	4	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:32138784C>A	ENST00000395499.1	-	3	843	c.264G>T	c.(262-264)ggG>ggT	p.G88G	AGPAT1_ENST00000336984.6_Silent_p.G88G|AGPAT1_ENST00000395496.1_Silent_p.G88G|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Silent_p.G88G|AGPAT1_ENST00000375107.3_Silent_p.G88G|AGPAT1_ENST00000412465.2_Intron|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Silent_p.G88G			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	88					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGTGGTGAGCCCCTCGCACCT	0.592																																																	0													100	94	96					6																	32138784		1509	2707	4216	SO:0001819	synonymous_variant	0			U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"1-acylglycerol-3-phosphate O-acyltransferases"	324	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, alpha"	603099	"1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.264G>T	6.37:g.32138784C>A			A2BFI5|Q5BL03	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.G88	ENST00000395499.1	37	c.264	CCDS4744.1	6																																																																																			AGPAT1	-	pfam_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	ENSG00000204310		0.592	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT1	HGNC	protein_coding	OTTHUMT00000268941.1	-	0	29	0	C	NM_006411		32138784	-1	tier1	-	no_errors	ENST00000336984	ensembl	human	known	74_37	silent	33.33	20	10	SNP	1.000	A	A	32138784	C	A	32138784	2	1	52	1	0	0	0	0	0	0	0	1	386	610	22	3		3	AGPAT1	6	32138784	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	106153	32138784	138976283	290	12630											
PHF1	5252	genome.wustl.edu	37	chr6	33382566	33382566	+	Frame_Shift_Del	DEL	C	C	-																															gtctccatgctcggatgcctCcccctgtggagccccctact																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:33382566delC	ENST00000374516.3	+	11	1280	c.1009delC	c.(1009-1011)cccfs	p.P338fs	PHF1_ENST00000374512.3_Frame_Shift_Del_p.P338fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	338					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCGGATGCCTCCCCCTGTGGA	0.522											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85	81	83					6																	33382566		2202	4299	6501	SO:0001589	frameshift_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1009delC	6.37:g.33382566delC	ENSP00000363640:p.Pro338fs	839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P338fs	ENST00000374516.3	37	c.1009	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.522	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3		0	24	0	C			33382566	1	tier1		no_errors	ENST00000374516	ensembl	human	known	74_37	frame_shift_del	23.08	20	6	DEL	1.000	-	-	33382566	C	-	33382566	7	5	52	1	0	1	0	1	0	0	0	0	11859	855	30	0	1047	0	PHF1	6	33382566	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	1243782	33382566	137732501	291	12631											
SRPK1	6732	genome.wustl.edu	37	chr6	35838144	35838145	+	Frame_Shift_Ins	INS	-	-	T																															ttcttcttgcttgtttggtcINSttttttgcccagggcccgac																								rs12212199		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:35838144_35838145insT	ENST00000373825.2	-	10	1189_1190	c.904_905insA	c.(904-906)agafs	p.R302fs	SRPK1_ENST00000423325.2_Frame_Shift_Ins_p.R286fs|SRPK1_ENST00000373822.1_Frame_Shift_Ins_p.R195fs					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTTGTTTGGTCTTTTTTGCCCA	0.416																																					NSCLC(31;67 978 16289 24856 26454)												0																																										SO:0001589	frameshift_variant	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.905dupA	6.37:g.35838150_35838150dupT	ENSP00000362931:p.Arg302fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R302fs	ENST00000373825.2	37	c.905_904	CCDS47415.1	6																																																																																			SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000096063		0.416	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3		0	52	0	-	NM_003137		35838145	-1	tier1		no_errors	ENST00000373825	ensembl	human	known	74_37	frame_shift_ins	18.00	41	9	INS	1.000:1.000	T	T	35838145	-	T	35838144	7	5	52	1	0	1	1	0	0	0	0	0	15206	913	32	0	1090	0	SRPK1	6	35838144	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	2455578	35838144	135276923	292	12632											
SLC26A8	116369	genome.wustl.edu	37	chr6	35944996	35944996	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctggttggaattgacActgtaattgtgaagactggc	10	12	11	8	0	1	3	1	2	0	1	1	4	1	4	1	3	0	2	1	3	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:35944996A>G	ENST00000490799.1	-	9	1511	c.1158T>C	c.(1156-1158)agT>agC	p.S386S	SLC26A8_ENST00000394602.2_Silent_p.S281S|SLC26A8_ENST00000355574.2_Silent_p.S386S	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGAATTGACACTGTAATTGT	0.408																																																	0													114	106	109					6																	35944996		2203	4300	6503	SO:0001819	synonymous_variant	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1158T>C	6.37:g.35944996A>G				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S386	ENST00000490799.1	37	c.1158	CCDS4813.1	6																																																																																			SLC26A8	-	pfam_Sulph_transpt	ENSG00000112053		0.408	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0	35	0	A			35944996	-1	tier1	-	no_errors	ENST00000355574	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.000	G	G	35944996	A	G	35944996	2	3	52	1	0	0	0	0	0	0	0	1	14568	156	6	4		4	SLC26A8	6	35944996	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	106852	35944996	135170071	293	12633											
MDGA1	266727	genome.wustl.edu	37	chr6	37619877	37619877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaggtgccatagtcacTgaagtgcaggtcaatgagct	11	9	13	8	0	2	2	2	2	0	0	2	2	2	2	1	3	3	3	1	3	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:37619877T>C	ENST00000434837.3	-	7	2400	c.1222A>G	c.(1222-1224)Agt>Ggt	p.S408G	MDGA1_ENST00000297153.7_Missense_Mutation_p.S408G|MDGA1_ENST00000505425.1_Missense_Mutation_p.S408G	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	408	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCATAGTCACTGAAGTGCAGG	0.612																																																	0													45	47	47					6																	37619877		2044	4201	6245	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1222A>G	6.37:g.37619877T>C	ENSP00000402584:p.Ser408Gly		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.S408G	ENST00000434837.3	37	c.1222	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	T	18.02	3.531032	0.64972	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.16196	2.36;2.36;2.36	5.36	5.36	0.76844	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	T	0.08268	0.0206	L	0.35414	1.06	0.39556	D	0.969041	B	0.33777	0.425	B	0.34418	0.182	T	0.07195	-1.0785	10	0.62326	D	0.03	.	14.5453	0.68027	0.0:0.0:0.0:1.0	.	408	Q8NFP4	MDGA1_HUMAN	G	408	ENSP00000402584:S408G;ENSP00000297153:S408G;ENSP00000422042:S408G	ENSP00000297153:S408G	S	-	1	0	MDGA1	37727855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.102000	0.57776	2.042000	0.60477	0.533000	0.62120	AGT	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3		0	38	0	T			37619877	-1			no_errors	ENST00000297153	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	C	C	37619877	T	C	37619877	3	2	52	1	0	0	0	0	1	0	0	0	9444	1580	55	4	1689	4	MDGA1	6	37619877	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1674881	37619877	133495190	294	12634											
NFYA	4800	genome.wustl.edu	37	chr6	41059278	41059279	+	Frame_Shift_Ins	INS	-	-	T																															tcttaaagttacagtccctgINStttcaggcatgatcactatc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:41059278_41059279insT	ENST00000341376.6	+	7	760_761	c.559_560insT	c.(559-561)gttfs	p.V187fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.V158fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	187					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TACAGTCCCTGTTTCAGGCATG	0.436																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.562dupT	6.37:g.41059281_41059281dupT	ENSP00000345702:p.Val187fs		Q8IXU0	Frame_Shift_Ins	INS	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB	p.S188fs	ENST00000341376.6	37	c.559_560	CCDS4849.1	6																																																																																			NFYA	-	NULL	ENSG00000001167		0.436	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYA	HGNC	protein_coding	OTTHUMT00000040496.1		0	26	0	-			41059279	1	tier1		no_errors	ENST00000341376	ensembl	human	known	74_37	frame_shift_ins	40.91	13	9	INS	1.000:1.000	T	T	41059279	-	T	41059278	7	5	52	1	0	1	1	0	0	0	0	0	10428	1377	48	0	581	0	NFYA	6	41059278	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	3439401	41059278	130055789	295	12635											
POLR1C	9533	genome.wustl.edu	37	chr6	43488100	43488102	+	In_Frame_Del	DEL	TCC	TCC	-																															ccgaccagtgcatgatgataTcctcatcgctcagctgcggc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:43488100_43488102delTCC	ENST00000372389.3	+	6	678_680	c.590_592delTCC	c.(589-594)atcctc>atc	p.L198del	POLR1C_ENST00000372344.2_In_Frame_Del_p.L198del|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000304004.3_In_Frame_Del_p.L198del	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	198					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CATGATGATATCCTCATCGCTCA	0.542																																																	0																																										SO:0001651	inframe_deletion	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.590_592delTCC	6.37:g.43488100_43488102delTCC	ENSP00000361465:p.Leu198del		O75395|Q5JTE3	In_Frame_Del	DEL	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.L198in_frame_del	ENST00000372389.3	37	c.590_592	CCDS4901.1	6																																																																																			POLR1C	-	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.542	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3		0	36	0	TCC	NM_004875		43488102	1	tier1		no_errors	ENST00000372389	ensembl	human	known	74_37	in_frame_del	20.00	28	7	DEL	1.000:1.000:1.000	-	-	43488102	TCC	-	43488100	7	5	52	1	0	1	0	1	0	0	0	0	12250	1435	50	0	612	0	POLR1C	6	43488100	In_Frame_Del	DEL	TCC	TCGA-L5-A43J-01A-12D-A247-09	2428822	43488100	127626967	296	12636											
GTPBP2	54676	genome.wustl.edu	37	chr6	43596716	43596717	+	Frame_Shift_Ins	INS	-	-	G																															acttctcaggtgctcacctcINSggggggcaaatacggggggt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:43596716_43596717insG	ENST00000307126.5	-	1	182_183	c.183_184insC	c.(181-186)cccgagfs	p.E62fs	MAD2L1BP_ENST00000451025.2_5'Flank|GTPBP2_ENST00000476510.1_5'Flank|GTPBP2_ENST00000307114.7_5'Flank	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTGCTCACCTCGGGGGGCAAAT	0.629																																					GBM(116;405 1620 28302 32150 44768)												0																																										SO:0001589	frameshift_variant	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.184dupC	6.37:g.43596722_43596722dupG	ENSP00000303997:p.Glu62fs			Frame_Shift_Ins	INS	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.E61fs	ENST00000307126.5	37	c.184_183	CCDS4903.1	6																																																																																			GTPBP2	-	NULL	ENSG00000172432		0.629	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1		0	50	0	-			43596717	-1	tier1		no_errors	ENST00000307126	ensembl	human	known	74_37	frame_shift_ins	24.29	53	17	INS	1.000:0.961	G	G	43596717	-	G	43596716	7	5	52	1	0	1	1	0	0	0	0	0	6907	893	31	0	1672	0	GTPBP2	6	43596716	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	108616	43596716	127518351	297	12637											
SLC29A1	2030	genome.wustl.edu	37	chr6	44201262	44201262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttccgggcaattgtGtgacaaaggatggacagaag	11	10	13	7	1	0	2	0	1	0	1	2	4	2	4	2	3	0	2	2	3	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:44201262G>A	ENST00000393841.1	+	14	1859	c.1368G>A	c.(1366-1368)gtG>gtA	p.V456V	SLC29A1_ENST00000371755.3_Silent_p.V456V|SLC29A1_ENST00000313248.7_Silent_p.V535V|SLC29A1_ENST00000371731.1_Silent_p.V456V|SLC29A1_ENST00000427851.2_Silent_p.V456V|SLC29A1_ENST00000371708.1_Silent_p.V456V|SLC29A1_ENST00000371740.5_Silent_p.V456V|SLC29A1_ENST00000393844.1_Silent_p.V456V|SLC29A1_ENST00000371713.1_Silent_p.V456V|SLC29A1_ENST00000371724.1_Silent_p.V456V	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	456					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GGGCAATTGTGTGACAAAGGA	0.592																																																	0													145	123	130					6																	44201262		2203	4300	6503	SO:0001819	synonymous_variant	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1368G>A	6.37:g.44201262G>A			B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.V535	ENST00000393841.1	37	c.1605	CCDS4908.1	6																																																																																			SLC29A1	-	tigrfam_Eqnu_transpt	ENSG00000112759		0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	-	0	32	0	G			44201262	1	tier1	-	no_errors	ENST00000313248	ensembl	human	known	74_37	silent	29.79	33	14	SNP	1.000	A	A	44201262	G	A	44201262	2	1	52	1	0	0	0	0	0	0	0	1	14579	1364	48	3		3	SLC29A1	6	44201262	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	604546	44201262	126913805	298	12638											
AARS2	57505	genome.wustl.edu	37	chr6	44269193	44269193	+	Frame_Shift_Del	DEL	C	C	-																															tccagcagctcctgagttttCtttgcagcctatggggcagg																								rs498512	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:44269193delC	ENST00000244571.4	-	20	2609	c.2607delG	c.(2605-2607)aagfs	p.K870fs	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCTGAGTTTTCTTTGCAGCCT	0.572																																																	0													65	71	69					6																	44269193		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2607delG	6.37:g.44269193delC	ENSP00000244571:p.Lys870fs			Frame_Shift_Del	DEL	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.T871fs	ENST00000244571.4	37	c.2607	CCDS34464.1	6																																																																																			AARS2	-	tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.572	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2		0	54	0	C	NM_020745		44269193	-1	tier1		no_errors	ENST00000244571	ensembl	human	known	74_37	frame_shift_del	30.51	41	18	DEL	0.008	-	-	44269193	C	-	44269193	7	5	52	1	0	1	0	1	0	0	0	0	20	912	32	0	362	0	AARS2	6	44269193	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	67931	44269193	126845874	299	12639											
CLIC5	53405	genome.wustl.edu	37	chr6	45870934	45870934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggcgttcttgaggtacCgccacaggcctgtcatctca	8	10	10	13	2	3	1	2	1	2	0	4	1	3	1	3	3	1	2	3	3	2	4	rs372300556		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:45870934C>T	ENST00000185206.6	-	6	1276	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	CLIC5_ENST00000339561.6_Missense_Mutation_p.R216Q	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	375	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTTGAGGTACCGCCACAGGCC	0.537																																																	0								C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	129	99	109		1124,647	5.6	1	6		109	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CLIC5	NM_001114086.1,NM_016929.3	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	375/411,216/252	45870934	1,13005	2203	4300	6503	SO:0001583	missense	0			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"Ion channels / Chloride channels : Intracellular"	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1124G>A	6.37:g.45870934C>T	ENSP00000185206:p.Arg375Gln		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.R375Q	ENST00000185206.6	37	c.1124	CCDS47438.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.220362	0.95139	0.0	1.16E-4	ENSG00000112782	ENST00000185206;ENST00000339561	D;D	0.95001	-3.58;-3.32	5.59	5.59	0.84812	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.81179	2.53	0.80722	D	1	P;P	0.51933	0.949;0.867	B;B	0.36666	0.23;0.197	D	0.93723	0.7034	10	0.62326	D	0.03	.	19.9643	0.97261	0.0:1.0:0.0:0.0	.	375;216	Q9NZA1;Q53G01	CLIC5_HUMAN;.	Q	375;216	ENSP00000185206:R375Q;ENSP00000344165:R216Q	ENSP00000185206:R375Q	R	-	2	0	CLIC5	45978912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.090000	0.57693	2.790000	0.95986	0.637000	0.83480	CGG	CLIC5	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel	ENSG00000112782		0.537	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	-	0	35	0	C			45870934	-1	tier1	-	no_errors	ENST00000185206	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	T	T	45870934	C	T	45870934	3	4	52	1	0	0	0	0	1	0	0	0	3536	652	23	1	112	1	CLIC5	6	45870934	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1601741	45870934	125244133	300	12640											
TDRD6	221400	genome.wustl.edu	37	chr6	46656650	46656650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cataacccaagtgtgccatcCccaccgcattcactgccagc	10	7	6	18	1	1	0	1	0	0	0	2	0	2	0	6	0	4	1	6	0	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:46656650C>A	ENST00000316081.6	+	1	785	c.785C>A	c.(784-786)cCc>cAc	p.P262H	RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.P262H	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	262					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTGTGCCATCCCCACCGCATT	0.627																																																	0													31	26	27					6																	46656650		2203	4299	6502	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.785C>A	6.37:g.46656650C>A	ENSP00000346065:p.Pro262His		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.P262H	ENST00000316081.6	37	c.785	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272207	0.80469	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.12672	2.66;2.66	6.07	6.07	0.98685	Maternal tudor protein (1);	0.101773	0.64402	D	0.000002	T	0.31071	0.0785	M	0.64567	1.98	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00797	-1.1562	10	0.66056	D	0.02	-12.7243	20.2543	0.98414	0.0:1.0:0.0:0.0	.	262;262	F5H5M3;O60522	.;TDRD6_HUMAN	H	262	ENSP00000443299:P262H;ENSP00000346065:P262H	ENSP00000346065:P262H	P	+	2	0	TDRD6	46764609	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.304000	0.78882	2.884000	0.98904	0.655000	0.94253	CCC	TDRD6	-	pfam_Tudor	ENSG00000180113		0.627	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0	67	0	C	XM_166443		46656650	1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	A	A	46656650	C	A	46656650	3	1	52	1	0	0	0	0	1	0	0	0	15781	623	22	3	787	3	TDRD6	6	46656650	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	785716	46656650	124458417	301	12641											
DST	667	genome.wustl.edu	37	chr6	56335022	56335022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtcaatatatccatcGccatctctgtcaaagatgtc	12	13	6	10	1	3	1	2	0	1	1	7	1	4	1	2	0	0	1	2	0	6	4	rs545772116		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:56335022G>A	ENST00000361203.3	-	91	21427	c.21420C>T	c.(21418-21420)ggC>ggT	p.G7140G	DST_ENST00000244364.6_Silent_p.G4837G|DST_ENST00000370788.2_Silent_p.G5054G|DST_ENST00000370754.5_Silent_p.G7429G|DST_ENST00000446842.2_Silent_p.G6925G|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.G7251G|DST_ENST00000421834.2_Silent_p.G5136G			Q03001	DYST_HUMAN	dystonin	7249					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATATCCATCGCCATCTCTGT	0.398																																																	0													86	79	82					6																	56335022		1900	4126	6026	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21420C>T	6.37:g.56335022G>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G7429	ENST00000361203.3	37	c.22287		6																																																																																			DST	-	superfamily_ABC1_TM_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000151914		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	37	0	G	NM_001723		56335022	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.916	A	A	56335022	G	A	56335022	2	1	52	1	0	0	0	0	0	0	0	1	4797	1074	38	1		1	DST	6	56335022	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	9678372	56335022	114780045	302	12642											
BAI3	577	genome.wustl.edu	37	chr6	70048831	70048831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgagtgagcctcatagcgGtttgacgctcaaatgtgcca	10	10	12	9	2	2	3	2	3	0	0	2	4	2	3	2	1	3	2	2	1	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:70048831G>T	ENST00000370598.1	+	25	4033	c.3212G>T	c.(3211-3213)gGt>gTt	p.G1071V	BAI3_ENST00000546190.1_Missense_Mutation_p.G35V|BAI3_ENST00000238918.8_Missense_Mutation_p.G277V	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1071					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCTCATAGCGGTTTGACGCTC	0.418																																																	0													228	224	225					6																	70048831		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3212G>T	6.37:g.70048831G>T	ENSP00000359630:p.Gly1071Val		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1071V	ENST00000370598.1	37	c.3212	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722441	0.89298	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.44482	1.95;2.57;0.92	6.16	6.16	0.99307	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	N	0.21194	0.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.50625	-0.8806	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	277;1071;1071	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	V	1071;277;35	ENSP00000359630:G1071V;ENSP00000238918:G277V;ENSP00000441821:G35V	ENSP00000238918:G277V	G	+	2	0	BAI3	70105552	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.516000	0.73755	2.937000	0.99478	0.650000	0.86243	GGT	BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000135298		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	35	0	G			70048831	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	T	T	70048831	G	T	70048831	3	4	52	1	0	0	0	0	1	0	0	0	1301	1261	44	3	3302	3	BAI3	6	70048831	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	13713809	70048831	101066236	303	12643											
C6orf221	154288	genome.wustl.edu	37	chr6	74073483	74073483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagcagtctctccaggCtgccaacaagtcggggaccc	9	5	11	16	1	1	0	0	0	1	0	4	2	2	1	4	3	3	2	4	3	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:74073483C>T	ENST00000370367.3	+	3	607	c.554C>T	c.(553-555)gCt>gTt	p.A185V		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	185							RNA binding (GO:0003723)										TCTCTCCAGGCTGCCAACAAG	0.657																																																	0													32	34	33					6																	74073483		2203	4300	6503	SO:0001583	missense	0			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"ES cell associated transcript 1"	611687	"chromosome 6 open reading frame 221"	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.554C>T	6.37:g.74073483C>T	ENSP00000359392:p.Ala185Val		B2RNW7	Missense_Mutation	SNP	NULL	p.A185V	ENST00000370367.3	37	c.554	CCDS34484.1	6	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551360	0.45383	.	.	ENSG00000203908	ENST00000370367	T	0.54866	0.55	2.57	-1.77	0.07982	.	.	.	.	.	T	0.32763	0.0840	L	0.48642	1.525	0.09310	N	1	D	0.62365	0.991	P	0.53593	0.73	T	0.13019	-1.0525	9	0.59425	D	0.04	.	4.0632	0.09847	0.5332:0.3341:0.0:0.1327	.	185	Q587J8	ECAT1_HUMAN	V	185	ENSP00000359392:A185V	ENSP00000359392:A185V	A	+	2	0	C6orf221	74130204	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.516000	0.35856	-0.439000	0.07222	-0.467000	0.05162	GCT	KHDC3L	-	NULL	ENSG00000203908		0.657	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC3L	HGNC	protein_coding	OTTHUMT00000041202.3	-	0	58	0	C	NM_001017361		74073483	1	tier1	-	no_errors	ENST00000370367	ensembl	human	known	74_37	missense	52.48	48	53	SNP	0.000	T	T	74073483	C	T	74073483	3	4	52	1	0	0	0	0	1	0	0	0	2362	797	28	3	564	3	C6orf221	6	74073483	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4024652	74073483	97041584	304	12644											
COL12A1	1303	genome.wustl.edu	37	chr6	75836149	75836149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatcttgtataccattcGtcagagatgtgtatgttctg	9	16	9	7	1	3	2	1	1	2	1	4	3	3	2	1	0	1	3	1	0	4	6	rs371734128		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:75836149G>A	ENST00000322507.8	-	39	6687	c.6378C>T	c.(6376-6378)gaC>gaT	p.D2126D	COL12A1_ENST00000345356.6_Silent_p.D962D|COL12A1_ENST00000416123.2_Silent_p.D2126D|COL12A1_ENST00000483888.2_Silent_p.D2126D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2126	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATACCATTCGTCAGAGATGT	0.428																																																	0								G	,	0,3776		0,0,1888	118	109	111		6378,2886	-1	1	6		111	2,8244		0,2,4121	no	coding-synonymous,coding-synonymous	COL12A1	NM_004370.5,NM_080645.2	,	0,2,6009	AA,AG,GG		0.0243,0.0,0.0166	,	2126/3064,962/1900	75836149	2,12020	1888	4123	6011	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6378C>T	6.37:g.75836149G>A			O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.D2126	ENST00000322507.8	37	c.6378	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.428	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	28	0	G	NM_004370		75836149	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	silent	56.25	14	18	SNP	0.981	A	A	75836149	G	A	75836149	2	1	52	1	0	0	0	0	0	0	0	1	3676	1136	40	1		1	COL12A1	6	75836149	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1762666	75836149	95278918	305	12645											
HTR1B	3351	genome.wustl.edu	37	chr6	78172236	78172236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttccagcagggcgtcGgagactcgcactttgacttg	6	13	11	11	3	1	2	0	1	1	1	4	3	2	2	1	2	1	2	1	2	0	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:78172236G>A	ENST00000369947.2	-	1	1254	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	295					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCAGGGCGTCGGAGACTCGCA	0.552																																																	0													157	168	164					6																	78172236		2203	4300	6503	SO:0001819	synonymous_variant	0			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5287	protein-coding gene	gene with protein product		182131	"5-hydroxytryptamine (serotonin) receptor 1B"			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.885C>T	6.37:g.78172236G>A			Q4VAY7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam	p.S295	ENST00000369947.2	37	c.885	CCDS4986.1	6																																																																																			HTR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1B_rcpt	ENSG00000135312		0.552	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	-	0	23	0	G	NM_000863		78172236	-1	tier1	-	no_errors	ENST00000369947	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.938	A	A	78172236	G	A	78172236	2	1	52	1	0	0	0	0	0	0	0	1	7464	1103	39	1		1	HTR1B	6	78172236	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2336087	78172236	92942831	306	12646											
DOPEY1	23033	genome.wustl.edu	37	chr6	83819909	83819909	+	Frame_Shift_Del	DEL	G	G	-																															agcattctacagtgccctgtGgggtagtcttctcaccagtc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:83819909delG	ENST00000349129.2	+	6	817	c.557delG	c.(556-558)tggfs	p.W186fs	DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.W186fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.W186fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.W186fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	186					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGTGCCCTGTGGGGTAGTCTT	0.423																																																	0													165	147	153					6																	83819909		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.557delG	6.37:g.83819909delG	ENSP00000195654:p.Trp186fs		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Frame_Shift_Del	DEL	pfam_Dopey_N,superfamily_ARM-type_fold	p.G187fs	ENST00000349129.2	37	c.557	CCDS4996.1	6																																																																																			DOPEY1	-	pfam_Dopey_N,superfamily_ARM-type_fold	ENSG00000083097		0.423	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0	52	0	G	NM_015018		83819909	1	tier1		no_errors	ENST00000349129	ensembl	human	known	74_37	frame_shift_del	45.71	38	32	DEL	1.000	-	-	83819909	G	-	83819909	7	5	52	1	0	1	0	1	0	0	0	0	4721	1357	47	0	571	0	DOPEY1	6	83819909	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	5647673	83819909	87295158	307	12647											
HTR1E	3354	genome.wustl.edu	37	chr6	87726135	87726135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaaaaagctcattagatgCcgagagcatacttagactgt	14	12	8	7	1	1	3	1	0	0	3	1	4	1	3	1	0	4	2	1	0	6	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:87726135C>T	ENST00000305344.5	+	2	1786	c.1083C>T	c.(1081-1083)tgC>tgT	p.C361C		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	361					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCATTAGATGCCGAGAGCATA	0.413																																																	0													49	52	51					6																	87726135		2171	4294	6465	SO:0001819	synonymous_variant	0				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5291	protein-coding gene	gene with protein product		182132	"5-hydroxytryptamine (serotonin) receptor 1E"			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1083C>T	6.37:g.87726135C>T			E1P503|Q9P1Y1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.C361	ENST00000305344.5	37	c.1083	CCDS5006.1	6																																																																																			HTR1E	-	NULL	ENSG00000168830		0.413	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1E	HGNC	protein_coding	OTTHUMT00000472488.2	-	0	64	0	C	NM_000865		87726135	1	tier1	-	no_errors	ENST00000305344	ensembl	human	known	74_37	silent	40.62	38	26	SNP	1.000	T	T	87726135	C	T	87726135	2	4	52	1	0	0	0	0	0	0	0	1	7466	747	26	3		3	HTR1E	6	87726135	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3906226	87726135	83388932	308	12648											
POU3F2	5454	genome.wustl.edu	37	chr6	99283509	99283509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcctggccacccaggcGcgcaccacgacccgcactcg	6	3	11	21	6	0	0	0	0	0	0	2	1	1	0	6	2	0	2	6	2	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:99283509G>A	ENST00000328345.5	+	1	930	c.760G>A	c.(760-762)Gcg>Acg	p.A254T		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	254					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CCACCCAGGCGCGCACCACGA	0.711																																																	0													34	39	37					6																	99283509		2203	4297	6500	SO:0001583	missense	0			Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"Homeoboxes / POU class"	9215	protein-coding gene	gene with protein product		600494	"POU domain class 3, transcription factor 2"	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.760G>A	6.37:g.99283509G>A	ENSP00000329170:p.Ala254Thr		Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A254T	ENST00000328345.5	37	c.760	CCDS5040.1	6	.	.	.	.	.	.	.	.	.	.	G	8.051	0.766101	0.15983	.	.	ENSG00000184486	ENST00000328345;ENST00000425116	D	0.85411	-1.98	3.82	2.9	0.33743	.	0.563063	0.16057	U	0.231646	T	0.48642	0.1511	N	0.14661	0.345	0.28921	N	0.892105	P	0.39665	0.682	B	0.23275	0.045	T	0.43048	-0.9415	10	0.13470	T	0.59	.	13.3158	0.60407	0.0:0.1758:0.8242:0.0	.	254	P20265	PO3F2_HUMAN	T	254;187	ENSP00000329170:A254T	ENSP00000329170:A254T	A	+	1	0	POU3F2	99390230	0.995000	0.38212	1.000000	0.80357	0.944000	0.59088	0.000000	0.12993	1.958000	0.56883	0.305000	0.20034	GCG	POU3F2	-	pirsf_Transcription_factor_POU	ENSG00000184486		0.711	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F2	HGNC	protein_coding	OTTHUMT00000041586.2		0	21	0	G			99283509	1			no_errors	ENST00000328345	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.963	A	A	99283509	G	A	99283509	3	1	52	1	0	0	0	0	1	0	0	0	12314	1087	38	1	762	1	POU3F2	6	99283509	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	11557374	99283509	71831558	309	12649											
HACE1	57531	genome.wustl.edu	37	chr6	105192413	105192413	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactggatcttctctttcatAgccacttgtgtattctgtat	8	18	6	9	0	4	0	1	0	3	0	5	1	4	1	1	1	2	2	1	1	4	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:105192413A>G	ENST00000262903.4	-	21	2692	c.2416T>C	c.(2416-2418)Tat>Cat	p.Y806H	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.Y591H	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	806	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TCTCTTTCATAGCCACTTGTG	0.348																																																	0													96	95	95					6																	105192413		2203	4297	6500	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2416T>C	6.37:g.105192413A>G	ENSP00000262903:p.Tyr806His		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.Y806H	ENST00000262903.4	37	c.2416	CCDS5050.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.5|22.5	4.299689|4.299689	0.81136|0.81136	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503;ENST00000518402|ENST00000262903;ENST00000369125	.|T;T	.|0.64438	.|-0.1;-0.1	5.93|5.93	5.93|5.93	0.95920|0.95920	.|HECT (4);	.|0.054523	.|0.85682	.|D	.|0.000000	D|D	0.82806|0.82806	0.5117|0.5117	H|H	0.96518|0.96518	3.835|3.835	0.30424|0.30424	N|N	0.777792|0.777792	.|D;D;D;D	.|0.89917	.|1.0;0.975;0.991;0.997	.|D;P;P;D	.|0.91635	.|0.999;0.89;0.9;0.925	D|D	0.84946|0.84946	0.0868|0.0868	5|10	.|0.87932	.|D	.|0	.|.	16.3766|16.3766	0.83401|0.83401	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|591;295;806;459	.|E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.|.;.;HACE1_HUMAN;.	P|H	244;196|806;591	.|ENSP00000262903:Y806H;ENSP00000358121:Y591H	.|ENSP00000262903:Y806H	L|Y	-|-	2|1	0|0	HACE1|HACE1	105299106|105299106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.734000|8.734000	0.91543|0.91543	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	CTA|TAT	HACE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000085382		0.348	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	-	0	37	0	A	XM_045095		105192413	-1	tier1	-	no_errors	ENST00000262903	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	G	G	105192413	A	G	105192413	3	3	52	1	0	0	0	0	1	0	0	0	6967	420	15	4	329	4	HACE1	6	105192413	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	5908904	105192413	65922654	310	12650											
PRDM1	639	genome.wustl.edu	37	chr6	106553730	106553730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaagacccttccctacccGctgaagaagcagaacggcaa	14	5	8	14	2	0	4	0	1	0	3	1	4	1	4	3	1	4	3	3	1	7	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:106553730G>A	ENST00000369096.4	+	5	1929	c.1695G>A	c.(1693-1695)ccG>ccA	p.P565P	PRDM1_ENST00000369089.3_Silent_p.P431P|PRDM1_ENST00000369091.2_Silent_p.P529P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	565	Interaction with PIAS1.				cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TTCCCTACCCGCTGAAGAAGC	0.517			"D, N, Mis, F, S"		DLBCL																																			Rec	yes		6	6q21	639	"PR domain containing 1, with ZNF domain"		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											61	58	59					6																	106553730		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"Zinc fingers, C2H2-type"	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1695G>A	6.37:g.106553730G>A			B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.P565	ENST00000369096.4	37	c.1695	CCDS5054.2	6																																																																																			PRDM1	-	pirsf_Znf_PRDM1	ENSG00000057657		0.517	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	-	0	15	0	G			106553730	1	tier1	-	no_errors	ENST00000369096	ensembl	human	known	74_37	silent	33.33	17	9	SNP	0.157	A	A	106553730	G	A	106553730	2	1	52	1	0	0	0	0	0	0	0	1	12492	1074	38	1		1	PRDM1	6	106553730	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1361317	106553730	64561337	311	12651											
SMPD2	6610	genome.wustl.edu	37	chr6	109764847	109764847	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attggcctggggctgcttctCctggcactgctgtgtgtcct	2	14	13	12	0	1	0	0	0	1	0	3	0	2	0	3	4	2	4	3	4	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:109764847C>G	ENST00000258052.3	+	10	1370	c.1011C>G	c.(1009-1011)ctC>ctG	p.L337L	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	337					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGCTGCTTCTCCTGGCACTGC	0.652																																																	0													50	53	52					6																	109764847		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.1011C>G	6.37:g.109764847C>G			Q5TED1|Q9BWR3	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L337	ENST00000258052.3	37	c.1011	CCDS5075.1	6																																																																																			SMPD2	-	NULL	ENSG00000135587		0.652	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	-	0	45	0	C			109764847	1	tier1	-	no_errors	ENST00000258052	ensembl	human	known	74_37	silent	45.45	29	25	SNP	0.238	G	G	109764847	C	G	109764847	2	3	52	1	0	0	0	0	0	0	0	1	14850	842	30	5		5	SMPD2	6	109764847	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3211117	109764847	61350220	312	12652											
CDC40	51362	genome.wustl.edu	37	chr6	110530394	110530394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccatgggcaaaatatGtggatgaaaaagatgtagcc	15	8	13	5	0	0	2	0	1	0	1	0	4	0	4	2	3	1	2	2	3	6	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:110530394G>T	ENST00000368932.1	+	6	699	c.598G>T	c.(598-600)Gtg>Ttg	p.V200L	CDC40_ENST00000368930.1_Missense_Mutation_p.V200L|CDC40_ENST00000307731.1_Missense_Mutation_p.V200L			O60508	PRP17_HUMAN	cell division cycle 40	200					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GGCAAAATATGTGGATGAAAA	0.328																																																	0													109	108	108					6																	110530394		2203	4299	6502	SO:0001583	missense	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.598G>T	6.37:g.110530394G>T	ENSP00000357928:p.Val200Leu		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V200L	ENST00000368932.1	37	c.598	CCDS5081.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.179442|2.179442	0.38511|0.38511	.|.	.|.	ENSG00000168438|ENSG00000168438	ENST00000431461|ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731	.|T;T;T;T	.|0.60920	.|0.29;0.15;0.15;0.29	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.312422	.|0.34700	.|N	.|0.003751	T|T	0.34978|0.34978	0.0916|0.0916	L|L	0.39898|0.39898	1.24|1.24	0.44515|0.44515	D|D	0.997467|0.997467	.|B	.|0.15930	.|0.015	.|B	.|0.18263	.|0.021	T|T	0.18085|0.18085	-1.0348|-1.0348	5|10	.|0.38643	.|T	.|0.18	-12.343|-12.343	13.0532|13.0532	0.58966|0.58966	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	.|200	.|O60508	.|PRP17_HUMAN	F|L	92|200	.|ENSP00000357928:V200L;ENSP00000357929:V200L;ENSP00000357926:V200L;ENSP00000304370:V200L	.|ENSP00000304370:V200L	C|V	+|+	2|1	0|0	CDC40|CDC40	110637087|110637087	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.111000|5.111000	0.64628|0.64628	2.687000|2.687000	0.91594|0.91594	0.557000|0.557000	0.71058|0.71058	TGT|GTG	CDC40	-	NULL	ENSG00000168438		0.328	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	-	0	45	0	G	NM_015891		110530394	1	tier1	-	no_errors	ENST00000307731	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	T	T	110530394	G	T	110530394	3	4	52	1	0	0	0	0	1	0	0	0	3077	1377	48	3	616	3	CDC40	6	110530394	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	765547	110530394	60584673	313	12653											
CDK19	23097	genome.wustl.edu	37	chr6	110953273	110953273	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaccaagcaaaagttcTggagcccgataccaaaatgt	14	8	8	11	1	1	0	0	0	1	0	1	2	1	1	3	1	4	3	3	1	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:110953273T>C	ENST00000368911.3	-	6	785	c.606A>G	c.(604-606)ccA>ccG	p.P202P	CDK19_ENST00000323817.3_Silent_p.P142P|CDK19_ENST00000413605.2_Silent_p.P78P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCAAAAGTTCTGGAGCCCGAT	0.368																																																	0													95	92	93					6																	110953273		2203	4300	6503	SO:0001819	synonymous_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.606A>G	6.37:g.110953273T>C			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P202	ENST00000368911.3	37	c.606	CCDS5085.1	6																																																																																			CDK19	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155111		0.368	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	-	0	40	0	T	NM_015076		110953273	-1	tier1	-	no_errors	ENST00000368911	ensembl	human	known	74_37	silent	34.04	31	16	SNP	1.000	C	C	110953273	T	C	110953273	2	2	52	1	0	0	0	0	0	0	0	1	3142	1567	55	4		4	CDK19	6	110953273	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	422879	110953273	60161794	314	12654											
CDK19	23097	genome.wustl.edu	37	chr6	110988756	110988756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttatttgcttttgatgCacggtgaaacttaataatat	11	19	6	5	1	0	2	0	2	0	0	0	2	0	2	0	1	3	2	0	1	5	9			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:110988756C>T	ENST00000368911.3	-	4	516	c.337G>A	c.(337-339)Gca>Aca	p.A113T	CDK19_ENST00000323817.3_Missense_Mutation_p.A53T	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GCTTTTGATGCACGGTGAAAC	0.303																																																	0													72	71	71					6																	110988756		2203	4300	6503	SO:0001583	missense	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.337G>A	6.37:g.110988756C>T	ENSP00000357907:p.Ala113Thr		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A113T	ENST00000368911.3	37	c.337	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874605	0.51695	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000457688	T;T;T	0.64085	0.04;-0.07;-0.08	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.162241	0.53938	D	0.000043	T	0.33847	0.0877	N	0.20401	0.57	0.80722	D	1	B	0.20368	0.044	B	0.21360	0.034	T	0.20371	-1.0277	10	0.18276	T	0.48	-19.7349	18.9567	0.92661	0.0:1.0:0.0:0.0	.	113	Q9BWU1	CDK19_HUMAN	T	113;53;52;53	ENSP00000357907:A113T;ENSP00000317665:A53T;ENSP00000415621:A53T	ENSP00000317665:A53T	A	-	1	0	CDK19	111095449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.487000	0.83934	0.551000	0.68910	GCA	CDK19	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155111		0.303	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	-	0	17	0	C	NM_015076		110988756	-1	tier1	-	no_errors	ENST00000368911	ensembl	human	known	74_37	missense	50.00	11	11	SNP	1.000	T	T	110988756	C	T	110988756	3	4	52	1	0	0	0	0	1	0	0	0	3142	710	25	3	1211	3	CDK19	6	110988756	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	35483	110988756	60126311	315	12655											
REV3L	5980	genome.wustl.edu	37	chr6	111694984	111694984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttttagaactgccagtccaGactgtccttcaccaaatgct	10	12	6	13	0	1	2	1	0	0	2	3	2	3	2	4	0	3	1	4	0	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:111694984G>C	ENST00000358835.3	-	14	5028	c.4574C>G	c.(4573-4575)tCt>tGt	p.S1525C	REV3L_ENST00000435970.1_Missense_Mutation_p.S1447C|REV3L_ENST00000368802.3_Missense_Mutation_p.S1525C|REV3L_ENST00000368805.1_Missense_Mutation_p.S1525C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1525					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCCAGTCCAGACTGTCCTTC	0.373								DNA polymerases (catalytic subunits)																																									0													173	175	175					6																	111694984		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4574C>G	6.37:g.111694984G>C	ENSP00000351697:p.Ser1525Cys		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S1525C	ENST00000358835.3	37	c.4574	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430697	0.62844	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.02763	4.26;4.26;4.26;4.17	6.04	6.04	0.98038	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000001	T	0.10465	0.0256	M	0.61703	1.905	0.50813	D	0.999895	D	0.89917	1.0	D	0.85130	0.997	T	0.01520	-1.1334	10	0.87932	D	0	-6.2341	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1525	O60673	DPOLZ_HUMAN	C	1525;1525;1525;1447	ENSP00000357792:S1525C;ENSP00000357795:S1525C;ENSP00000351697:S1525C;ENSP00000402003:S1447C	ENSP00000351697:S1525C	S	-	2	0	REV3L	111801677	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.412000	0.90232	2.873000	0.98535	0.563000	0.77884	TCT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	64	0	G	NM_002912		111694984	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	27.16	59	22	SNP	1.000	C	C	111694984	G	C	111694984	3	2	52	1	0	0	0	0	1	0	0	0	13285	942	33	5	4898	5	REV3L	6	111694984	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	706228	111694984	59420083	316	12656											
FAM26F	441168	genome.wustl.edu	37	chr6	116783245	116783245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctggaacctgccctaCggcctggtcttcttgctggt	3	11	12	15	2	2	0	0	0	2	0	2	1	2	1	5	4	4	1	5	4	2	3	rs541870005		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:116783245C>T	ENST00000368605.1	+	2	248	c.153C>T	c.(151-153)taC>taT	p.Y51Y	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Intron	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	51					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		ACCTGCCCTACGGCCTGGTCT	0.706																																																	0													13	12	12					6																	116783245		2121	4132	6253	SO:0001819	synonymous_variant	0			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 187"	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.153C>T	6.37:g.116783245C>T			B9EJB0|Q5R3K4	Silent	SNP	NULL	p.Y51	ENST00000368605.1	37	c.153	CCDS34519.1	6																																																																																			FAM26F	-	NULL	ENSG00000188820		0.706	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26F	HGNC	protein_coding	OTTHUMT00000041946.1	-	0	20	0	C	NM_001010919		116783245	1	tier1	-	no_errors	ENST00000368605	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.807	T	T	116783245	C	T	116783245	2	4	52	1	0	0	0	0	0	0	0	1	5573	547	19	1		1	FAM26F	6	116783245	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5088261	116783245	54331822	317	12657											
C6orf204	387119	genome.wustl.edu	37	chr6	118887391	118887391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttggaaattgaagcgctGgaattagacggcatcacatg	13	10	12	6	2	1	2	1	1	0	1	1	4	1	4	0	3	1	3	0	3	4	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:118887391G>A	ENST00000368491.3	-	3	942	c.321C>T	c.(319-321)tcC>tcT	p.S107S	CEP85L_ENST00000392500.3_Silent_p.S110S|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Silent_p.S110S|CEP85L_ENST00000419517.2_Silent_p.S107S|CEP85L_ENST00000360290.3_Silent_p.S5S	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	107						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TTGAAGCGCTGGAATTAGACG	0.428																																																	0													63	62	62					6																	118887391		2203	4300	6503	SO:0001819	synonymous_variant	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.321C>T	6.37:g.118887391G>A			A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	NULL	p.S110	ENST00000368491.3	37	c.330	CCDS43498.1	6																																																																																			CEP85L	-	NULL	ENSG00000111860		0.428	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0	39	0	G	NM_001042475		118887391	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	silent	38.10	26	16	SNP	1.000	A	A	118887391	G	A	118887391	2	1	52	1	0	0	0	0	0	0	0	1	2360	1335	47	3		3	C6orf204	6	118887391	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2104146	118887391	52227676	318	12658											
TRDN	10345	genome.wustl.edu	37	chr6	123759208	123759209	+	Splice_Site	INS	-	-	T																															aacaaagaaagtgcaataccINSttttttttccacatcaatgg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:123759208_123759209insT	ENST00000398178.3	-	12	1071_1072	c.1050_1051insA	c.(1048-1053)aaagag>aaaAgag	p.E351fs	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA|TRDN_ENST00000334268.4_Splice_Site_p.E351fs|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	351					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337																																																	0																																										SO:0001630	splice_region_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1051+1->A	6.37:g.123759216_123759216dupT			A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Ins	INS	pfam_Asp-B-hydro/Triadin_dom	p.E350fs	ENST00000398178.3	37	c.1051_1050	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.337	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding			0	26	0	-		Frame_Shift_Ins	123759209	-1	tier1		no_errors	ENST00000398178	ensembl	human	known	74_37	frame_shift_ins	30.77	18	8	INS	1.000:1.000	T	T	123759209	-	T	123759208	8	5	52	1	0	1	1	0	0	0	1	0	16516	695	24	0	1258	0	TRDN	6	123759208	Splice_Site	INS	-	TCGA-L5-A43J-01A-12D-A247-09	4871817	123759208	47355859	319	12659											
TRDN	10345	genome.wustl.edu	37	chr6	123786066	123786066	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccttcaagggcaggtgAtgccggagtgggtctggaag	7	9	17	8	1	2	1	1	1	1	0	2	3	2	3	2	5	2	1	2	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:123786066A>C	ENST00000398178.3	-	10	937	c.916T>G	c.(916-918)Tca>Gca	p.S306A	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA|TRDN_ENST00000334268.4_Missense_Mutation_p.S306A|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000546248.1_Missense_Mutation_p.S286A	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	306					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGGGCAGGTGATGCCGGAGTG	0.398																																																	0													91	94	93					6																	123786066		1971	4139	6110	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.916T>G	6.37:g.123786066A>C	ENSP00000381240:p.Ser306Ala		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.S306A	ENST00000398178.3	37	c.916	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	A	7.776	0.708581	0.15239	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268;ENST00000542014;ENST00000543022;ENST00000546248	T;T;T	0.64085	-0.08;-0.08;0.51	5.7	-0.982	0.10266	.	0.478306	0.18053	N	0.153211	T	0.13243	0.0321	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23316	0.033;0.048;0.048;0.083	B;B;B;B	0.21917	0.037;0.024;0.024;0.024	T	0.27571	-1.0070	10	0.08837	T	0.75	0.1705	3.7392	0.08523	0.3244:0.0:0.1917:0.4838	.	286;306;306;306	F5H2W7;Q5SWK9;Q8IVK2;Q13061	.;.;.;TRDN_HUMAN	A	306;306;306;306;306;286	ENSP00000381240:S306A;ENSP00000333984:S306A;ENSP00000439281:S286A	ENSP00000333984:S306A	S	-	1	0	TRDN	123827765	0.014000	0.17966	0.048000	0.18961	0.371000	0.29859	-0.066000	0.11598	0.420000	0.25954	0.482000	0.46254	TCA	TRDN	-	NULL	ENSG00000186439		0.398	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		-	0	20	0	A			123786066	-1	tier1	-	no_errors	ENST00000398178	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.015	C	C	123786066	A	C	123786066	3	2	52	1	0	0	0	0	1	0	0	0	16516	333	12	4	1401	4	TRDN	6	123786066	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	26858	123786066	47329001	320	12660											
HEY2	23493	genome.wustl.edu	37	chr6	126080617	126080617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggctctgctctcctcaCggccacgtttgcccatgcgg	4	9	10	18	4	3	0	1	0	2	0	4	0	3	0	4	3	3	3	4	3	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:126080617C>T	ENST00000368364.3	+	5	880	c.683C>T	c.(682-684)aCg>aTg	p.T228M	HEY2_ENST00000368365.1_Missense_Mutation_p.T182M	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	228					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCTCTCCTCACGGCCACGTTT	0.642																																																	0													167	156	160					6																	126080617		2202	4299	6501	SO:0001583	missense	0			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.683C>T	6.37:g.126080617C>T	ENSP00000357348:p.Thr228Met			Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1	p.T228M	ENST00000368364.3	37	c.683	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.047154	0.75846	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59772	0.25;0.24	5.06	5.06	0.68205	.	0.448895	0.18040	N	0.153660	T	0.43853	0.1266	L	0.34521	1.04	0.46678	D	0.999154	D	0.54047	0.964	P	0.44477	0.451	T	0.52946	-0.8507	10	0.72032	D	0.01	-19.2793	18.6224	0.91326	0.0:1.0:0.0:0.0	.	228	Q9UBP5	HEY2_HUMAN	M	182;228	ENSP00000357349:T182M;ENSP00000357348:T228M	ENSP00000357348:T228M	T	+	2	0	HEY2	126122310	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	5.435000	0.66532	2.625000	0.88918	0.561000	0.74099	ACG	HEY2	-	NULL	ENSG00000135547		0.642	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	-	0	17	0	C			126080617	1	tier1	-	no_errors	ENST00000368364	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	T	T	126080617	C	T	126080617	3	4	52	1	0	0	0	0	1	0	0	0	7106	536	19	1	701	1	HEY2	6	126080617	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2294551	126080617	45034450	321	12661											
LPA	4018	genome.wustl.edu	37	chr6	160958928	160958928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgtaacattcagtcctgGcggtgaccatgtagtctggg	8	12	13	8	1	2	2	1	2	1	0	3	2	3	2	2	3	1	2	2	3	2	3	rs553481085		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:160958928G>T	ENST00000316300.5	-	37	5845	c.5801C>A	c.(5800-5802)gCc>gAc	p.A1934D	LPA_ENST00000447678.1_Missense_Mutation_p.A1934D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4442	Kringle 17. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTCAGTCCTGGCGGTGACCAT	0.468																																																	0													94	96	96					6																	160958928		2203	4300	6503	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5801C>A	6.37:g.160958928G>T	ENSP00000321334:p.Ala1934Asp		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.A1934D	ENST00000316300.5	37	c.5801	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.528121	0.00147	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.89270	-2.49;-2.49	2.62	-2.16	0.07080	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.56863	0.2014	N	0.12887	0.27	0.09310	N	1	B	0.25390	0.125	B	0.34590	0.186	T	0.56402	-0.7985	9	0.12766	T	0.61	.	4.52	0.11954	0.0:0.1623:0.4093:0.4284	.	4442	P08519	APOA_HUMAN	D	1934	ENSP00000321334:A1934D;ENSP00000395608:A1934D	ENSP00000321334:A1934D	A	-	2	0	LPA	160878918	0.168000	0.22989	0.001000	0.08648	0.001000	0.01503	1.056000	0.30480	-0.572000	0.06006	-1.098000	0.02139	GCC	LPA	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000198670		0.468	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	91	0	G	NM_005577		160958928	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	38.46	40	25	SNP	0.009	T	T	160958928	G	T	160958928	3	4	52	1	0	0	0	0	1	0	0	0	8938	1203	42	3	333	3	LPA	6	160958928	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	34878311	160958928	10156139	322	12662											
MAP3K4	4216	genome.wustl.edu	37	chr6	161455391	161455391	+	Frame_Shift_Del	DEL	C	C	-																															agaatctttatggtacctctCcccccagcacacctcgacag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:161455391delC	ENST00000392142.4	+	2	401	c.253delC	c.(253-255)cccfs	p.P86fs	MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.P86fs|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.P86fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.P86fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	86					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGGTACCTCTCCCCCCAGCAC	0.473																																																	0													90	87	88					6																	161455391		2203	4300	6503	SO:0001589	frameshift_variant	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.253delC	6.37:g.161455391delC	ENSP00000375986:p.Pro86fs		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S87fs	ENST00000392142.4	37	c.253	CCDS34565.1	6																																																																																			MAP3K4	-	NULL	ENSG00000085511		0.473	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3		0	44	0	C			161455391	1	tier1		no_errors	ENST00000392142	ensembl	human	known	74_37	frame_shift_del	30.36	39	17	DEL	1.000	-	-	161455391	C	-	161455391	7	5	52	1	0	1	0	1	0	0	0	0	9290	855	30	0	259	0	MAP3K4	6	161455391	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	496463	161455391	9659676	323	12663											
C6orf118	168090	genome.wustl.edu	37	chr6	165715153	165715153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacttccttctggaaacGcaggaacatcctgtacctgt	10	10	9	12	1	1	0	0	0	1	0	3	3	3	2	3	2	4	3	3	2	3	3	rs140500230		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr6:165715153G>A	ENST00000230301.8	-	2	678	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	C6orf118_ENST00000543069.1_Missense_Mutation_p.R116C	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	220										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTGGAAACGCAGGAACATC	0.617																																																	0								G	CYS/ARG	0,4406		0,0,2203	73	71	72		658	-9.9	0.1	6	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf118	NM_144980.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	220/470	165715153	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.658C>T	6.37:g.165715153G>A	ENSP00000230301:p.Arg220Cys		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.R220C	ENST00000230301.8	37	c.658	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	G	9.618	1.132985	0.21041	0.0	1.16E-4	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14022	2.54;2.54	4.92	-9.85	0.00476	.	1.154050	0.06243	N	0.690742	T	0.01489	0.0048	N	0.05441	-0.05	0.28368	N	0.920129	B	0.18610	0.029	B	0.06405	0.002	T	0.41142	-0.9525	10	0.45353	T	0.12	.	8.7614	0.34676	0.131:0.0:0.5933:0.2757	.	220	Q5T5N4	CF118_HUMAN	C	220;116	ENSP00000230301:R220C;ENSP00000439288:R116C	ENSP00000230301:R220C	R	-	1	0	C6orf118	165635143	0.000000	0.05858	0.053000	0.19242	0.362000	0.29581	-0.357000	0.07651	-2.664000	0.00417	-0.362000	0.07510	CGT	C6orf118	-	superfamily_Ribonuclease/ribotoxin	ENSG00000112539		0.617	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	22	0	G	NM_144980		165715153	-1	tier1	rs140500230	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	51.61	15	16	SNP	0.535	A	A	165715153	G	A	165715153	3	1	52	1	0	0	0	0	1	0	0	0	2330	1087	38	1	783	1	C6orf118	6	165715153	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4259762	165715153	5399914	324	12664											
GPER	2852	genome.wustl.edu	37	chr7	1131884	1131884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccgcaccaagcaccacGcccggctgagctgtggcctc	6	7	11	17	3	0	1	0	1	0	0	2	1	1	1	5	2	2	5	5	2	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:1131884G>A	ENST00000297469.3	+	2	1211	c.520G>A	c.(520-522)Gcc>Acc	p.A174T	GPER1_ENST00000401670.1_Missense_Mutation_p.A174T|GPER1_ENST00000397092.1_Missense_Mutation_p.A174T|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.A174T|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	174					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CAAGCACCACGCCCGGCTGAG	0.647																																																	0													75	60	65					7																	1131884		2203	4300	6503	SO:0001583	missense	0			U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"G protein-coupled receptor 30"	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.520G>A	7.37:g.1131884G>A	ENSP00000297469:p.Ala174Thr		A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A174T	ENST00000297469.3	37	c.520	CCDS5322.1	7	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831825	0.71258	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.055330	0.64402	D	0.000001	T	0.68439	0.3001	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73251	-0.4042	10	0.66056	D	0.02	-26.829	17.8628	0.88786	0.0:0.0:1.0:0.0	.	174	Q99527	GPER_HUMAN	T	174	ENSP00000385151:A174T;ENSP00000380281:A174T;ENSP00000297469:A174T;ENSP00000380277:A174T	ENSP00000297469:A174T	A	+	1	0	GPER	1098410	1.000000	0.71417	0.216000	0.23742	0.295000	0.27426	7.204000	0.77872	2.466000	0.83321	0.643000	0.83706	GCC	GPER1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000164850		0.647	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	GPER1	HGNC	protein_coding	OTTHUMT00000060001.1	-	0	34	0	G	NM_001039966		1131884	1	tier1	-	no_errors	ENST00000297469	ensembl	human	known	74_37	missense	30.43	46	21	SNP	1.000	A	A	1131884	G	A	1131884	3	1	52	1	0	0	0	0	1	0	0	0	6633	1087	38	1	522	1	GPER	7	1131884	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		1131884	158006779	325	12665											
AIMP2	7965	genome.wustl.edu	37	chr7	6062967	6062967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaattcagcatccagaCgatgtgccccatcgaaggcg	12	7	11	11	3	1	2	1	1	0	1	3	5	2	2	3	1	2	1	3	1	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:6062967C>T	ENST00000223029.3	+	4	727	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AIMP2_ENST00000395236.2_Missense_Mutation_p.T134M|EIF2AK1_ENST00000199389.6_3'UTR|AIMP2_ENST00000400479.2_Missense_Mutation_p.T125M	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	203	Interaction with TP53.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of protein ubiquitination (GO:0031398)|tRNA aminoacylation for protein translation (GO:0006418)|Type II pneumocyte differentiation (GO:0060510)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGCATCCAGACGATGTGCCCC	0.507																																																	0													103	97	99					7																	6062967		2203	4300	6503	SO:0001583	missense	0			U24169	CCDS5344.1	7p22.1	2009-05-29			ENSG00000106305	ENSG00000106305			20609	protein-coding gene	gene with protein product		600859				8666379, 18695251	Standard	NM_006303		Approved	p38, PRO0992, JTV-1, JTV1	uc003spo.3	Q13155	OTTHUMG00000122077	ENST00000223029.3:c.608C>T	7.37:g.6062967C>T	ENSP00000223029:p.Thr203Met		Q75MR1|Q96CZ5|Q9P1L2	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like	p.T203M	ENST00000223029.3	37	c.608	CCDS5344.1	7	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855728	0.71834	.	.	ENSG00000106305	ENST00000223029;ENST00000400479;ENST00000395236	T;T;T	0.31510	1.52;1.49;1.51	5.27	1.19	0.21007	.	0.219424	0.47455	D	0.000238	T	0.37785	0.1016	L	0.57536	1.79	0.80722	D	1	D	0.59357	0.985	P	0.56916	0.809	T	0.13229	-1.0517	10	0.72032	D	0.01	-12.0898	4.4496	0.11614	0.2491:0.4078:0.2733:0.0698	.	203	Q13155	AIMP2_HUMAN	M	203;125;134	ENSP00000223029:T203M;ENSP00000383327:T125M;ENSP00000378658:T134M	ENSP00000223029:T203M	T	+	2	0	AIMP2	6029493	0.965000	0.33210	0.932000	0.37286	0.978000	0.69477	2.276000	0.43408	-0.071000	0.12886	0.555000	0.69702	ACG	AIMP2	-	NULL	ENSG00000106305		0.507	AIMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIMP2	HGNC	protein_coding	OTTHUMT00000242834.2	-	0	65	0	C	NM_006303		6062967	1	tier1	-	no_errors	ENST00000223029	ensembl	human	known	74_37	missense	39.22	62	40	SNP	0.972	T	T	6062967	C	T	6062967	3	4	52	1	0	0	0	0	1	0	0	0	434	536	19	1	622	1	AIMP2	7	6062967	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4931083	6062967	153075696	326	12666											
MEOX2	4223	genome.wustl.edu	37	chr7	15652021	15652021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtttatatcataagtgCgcatgctctgagctgtggtc	7	15	10	9	1	3	1	1	1	2	0	4	1	3	1	0	1	3	4	0	1	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												2	Substitution - coding silent(2)	large_intestine(1)|lung(1)											120	103	109					7																	15652021		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.906G>A	7.37:g.15652021C>T			B2R8I7|O75263|Q9UPL6	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A302	ENST00000262041.5	37	c.906	CCDS34605.1	7																																																																																			MEOX2	-	NULL	ENSG00000106511		0.478	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	-	0	63	0	C	NM_005924		15652021	-1	tier1	-	no_errors	ENST00000262041	ensembl	human	known	74_37	silent	7.55	96	8	SNP	0.311	T	T	15652021	C	T	15652021	2	4	52	1	0	0	0	0	0	0	0	1	9512	755	27	1		1	MEOX2	7	15652021	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	9589054	15652021	143486642	327	12667											
HDAC9	9734	genome.wustl.edu	37	chr7	18674336	18674336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttactgaaaatgagactTcggttttgccccctacccct	8	13	8	12	1	0	2	0	2	0	1	1	3	0	2	4	1	3	2	4	1	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:18674336T>C	ENST00000432645.2	+	7	874	c.874T>C	c.(874-876)Tcg>Ccg	p.S292P	HDAC9_ENST00000401921.1_Missense_Mutation_p.S251P|HDAC9_ENST00000405010.3_Missense_Mutation_p.S292P|HDAC9_ENST00000456174.2_Missense_Mutation_p.S264P|HDAC9_ENST00000406451.4_Missense_Mutation_p.S292P|HDAC9_ENST00000524023.1_Missense_Mutation_p.S215P|HDAC9_ENST00000417496.2_Missense_Mutation_p.S290P|HDAC9_ENST00000428307.2_Missense_Mutation_p.S248P|HDAC9_ENST00000441542.2_Missense_Mutation_p.S295P|HDAC9_ENST00000406072.1_Missense_Mutation_p.S279P	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	292	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAATGAGACTTCGGTTTTGCC	0.403																																																	0													86	84	84					7																	18674336		1864	4098	5962	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.874T>C	7.37:g.18674336T>C	ENSP00000410337:p.Ser292Pro		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.S295P	ENST00000432645.2	37	c.883	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	T	13.64	2.297260	0.40694	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.59502	0.82;0.87;0.3;0.83;0.83;0.26;0.3;0.3;0.88;0.83	5.71	4.56	0.56223	.	0.140255	0.32952	N	0.005451	T	0.38799	0.1054	N	0.20685	0.6	0.48288	D	0.999626	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.003;0.001;0.004;0.0;0.004;0.001;0.001;0.0;0.001;0.001;0.003	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.13407	0.001;0.0;0.003;0.004;0.001;0.009;0.0;0.006;0.0;0.002;0.0;0.0;0.0;0.005	T	0.13791	-1.0496	10	0.22109	T	0.4	-10.0753	8.882	0.35380	0.0:0.1433:0.0:0.8567	.	215;264;292;279;290;292;295;251;295;292;264;292;292;270	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	P	290;293;292;292;248;279;251;292;295;264;215;292	ENSP00000401669:S290P;ENSP00000384382:S292P;ENSP00000384657:S292P;ENSP00000395655:S248P;ENSP00000384017:S279P;ENSP00000383912:S251P;ENSP00000410337:S292P;ENSP00000408617:S295P;ENSP00000388568:S264P;ENSP00000430036:S215P	ENSP00000262069:S293P	S	+	1	0	HDAC9	18640861	0.555000	0.26530	0.973000	0.42090	0.827000	0.46813	0.576000	0.23744	1.006000	0.39211	0.528000	0.53228	TCG	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.403	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	82	0	T			18674336	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	17.04	112	23	SNP	1.000	C	C	18674336	T	C	18674336	3	2	52	1	0	0	0	0	1	0	0	0	7041	1783	62	4	909	4	HDAC9	7	18674336	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	3022315	18674336	140464327	328	12668											
KBTBD2	25948	genome.wustl.edu	37	chr7	32914666	32914666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcattcattgccaagttacCcgtgtatgcataagttatta	11	15	7	8	1	2	0	2	0	0	0	2	0	2	0	2	0	3	4	2	0	6	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:32914666C>T	ENST00000304056.4	-	3	973	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	KBTBD2_ENST00000485611.1_5'UTR|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GCCAAGTTACCCGTGTATGCA	0.393																																																	0													237	203	214					7																	32914666		2203	4300	6503	SO:0001583	missense	0			AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"BTB/POZ domain containing"	21751	protein-coding gene	gene with protein product			"BTB and kelch domain containing 1"	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.274G>A	7.37:g.32914666C>T	ENSP00000302586:p.Gly92Ser		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G92S	ENST00000304056.4	37	c.274	CCDS34614.1	7	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507838	0.44558	.	.	ENSG00000170852	ENST00000304056	T	0.74315	-0.83	5.61	4.73	0.59995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.044361	0.85682	N	0.000000	T	0.73737	0.3625	N	0.17248	0.465	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68815	-0.5309	10	0.11794	T	0.64	.	14.4008	0.67044	0.0:0.929:0.0:0.071	.	92	Q8IY47	KBTB2_HUMAN	S	92	ENSP00000302586:G92S	ENSP00000302586:G92S	G	-	1	0	KBTBD2	32881191	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.740000	0.84986	1.373000	0.46208	-0.225000	0.12378	GGT	KBTBD2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000170852		0.393	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD2	HGNC	protein_coding	OTTHUMT00000328890.1	-	0	88	0	C	XM_291224		32914666	-1	tier1	-	no_errors	ENST00000304056	ensembl	human	known	74_37	missense	39.68	76	50	SNP	1.000	T	T	32914666	C	T	32914666	3	4	52	1	0	0	0	0	1	0	0	0	8020	623	22	3	1605	3	KBTBD2	7	32914666	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	14240330	32914666	126223997	329	12669											
EEPD1	80820	genome.wustl.edu	37	chr7	36194797	36194797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaggtggtgtgcatgacActcctggaaaacaggtgagg	11	7	16	7	1	0	3	0	2	0	1	1	5	1	4	1	5	2	1	1	5	2	0	rs369820285		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:36194797A>G	ENST00000242108.4	+	2	1582	c.864A>G	c.(862-864)acA>acG	p.T288T	EEPD1_ENST00000534978.1_Silent_p.T288T	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	288					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGTGCATGACACTCCTGGAAA	0.562																																																	0								A		2,4404	2.1+/-5.4	0,2,2201	54	50	52		864	-10	0.9	7		52	0,8600		0,0,4300	no	coding-synonymous	EEPD1	NM_030636.2		0,2,6501	GG,GA,AA		0.0,0.0454,0.0154		288/570	36194797	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.864A>G	7.37:g.36194797A>G			Q96K64|Q9C0F7	Silent	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.T288	ENST00000242108.4	37	c.864	CCDS34619.1	7																																																																																			EEPD1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000122547		0.562	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	-	0	21	0	A	NM_030636		36194797	1	tier1	-	no_errors	ENST00000242108	ensembl	human	known	74_37	silent	15.38	32	6	SNP	0.360	G	G	36194797	A	G	36194797	2	3	52	1	0	0	0	0	0	0	0	1	4946	146	6	4		4	EEPD1	7	36194797	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3280131	36194797	122943866	330	12670											
GPR141	353345	genome.wustl.edu	37	chr7	37780310	37780310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtacctcacgttcctattCtatgtggtgatcctggtcac	7	15	8	11	1	3	1	2	1	1	0	5	1	5	1	3	2	1	2	3	2	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:37780310C>G	ENST00000447769.1	+	4	604	c.315C>G	c.(313-315)ttC>ttG	p.F105L	GPR141_ENST00000334425.1_Missense_Mutation_p.F105L|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGTTCCTATTCTATGTGGTGA	0.478																																																	0													120	106	111					7																	37780310		2203	4300	6503	SO:0001583	missense	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.315C>G	7.37:g.37780310C>G	ENSP00000390410:p.Phe105Leu		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F105L	ENST00000447769.1	37	c.315	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284928	0.80803	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.32272	1.46;1.46	5.06	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.116344	0.64402	D	0.000014	T	0.43033	0.1229	L	0.58969	1.84	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.26395	-1.0104	10	0.18710	T	0.47	-34.0154	8.0101	0.30349	0.0:0.7449:0.0:0.2551	.	105	Q7Z602	GP141_HUMAN	L	105	ENSP00000390410:F105L;ENSP00000334540:F105L	ENSP00000334540:F105L	F	+	3	2	GPR141	37746835	1.000000	0.71417	0.992000	0.48379	0.973000	0.67179	1.579000	0.36536	0.647000	0.30713	0.650000	0.86243	TTC	GPR141	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187037		0.478	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	-	0	37	0	C	NM_181791		37780310	1	tier1	-	no_errors	ENST00000334425	ensembl	human	known	74_37	missense	38.24	42	26	SNP	1.000	G	G	37780310	C	G	37780310	3	3	52	1	0	0	0	0	1	0	0	0	6675	912	32	5	317	5	GPR141	7	37780310	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1585513	37780310	121358353	331	12671											
GLI3	2737	genome.wustl.edu	37	chr7	42085011	42085011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatgaagatattccatgtgGatggcccccgtgccggcggt	7	9	14	11	3	0	2	0	1	0	1	1	3	1	3	4	4	1	1	4	4	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:42085011G>A	ENST00000395925.3	-	6	882	c.798C>T	c.(796-798)atC>atT	p.I266I	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	266					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTCCATGTGGATGGCCCCCG	0.512									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													114	125	121					7																	42085011		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.798C>T	7.37:g.42085011G>A			A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I266	ENST00000395925.3	37	c.798	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.512	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	53	0	G	NM_000168		42085011	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	silent	35.24	67	37	SNP	1.000	A	A	42085011	G	A	42085011	2	1	52	1	0	0	0	0	0	0	0	1	6465	1164	41	3		3	GLI3	7	42085011	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4304701	42085011	117053652	332	12672											
STK17A	9263	genome.wustl.edu	37	chr7	43647973	43647973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgttcactttttacacactCgtgatgtagttcatcttgat	8	18	7	8	1	3	2	2	2	1	0	4	2	3	2	0	0	1	3	0	0	2	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:43647973C>T	ENST00000319357.5	+	3	717	c.538C>T	c.(538-540)Cgt>Tgt	p.R180C	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein phosphorylation (GO:0006468)|regulation of reactive oxygen species metabolic process (GO:2000377)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTTACACACTCGTGATGTAGT	0.318																																																	0													115	114	114					7																	43647973		2203	4300	6503	SO:0001583	missense	0			AB011420	CCDS5470.1	7p13	2008-05-15	2007-02-12		ENSG00000164543	ENSG00000164543			11395	protein-coding gene	gene with protein product	"death-associated protein kinase-related 1"	604726	"serine/threonine kinase 17a (apoptosis-inducing)"			9786912	Standard	NM_004760		Approved	DRAK1	uc003tih.3	Q9UEE5	OTTHUMG00000022825	ENST00000319357.5:c.538C>T	7.37:g.43647973C>T	ENSP00000319192:p.Arg180Cys		A4D1V6|Q8IVC8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R180C	ENST00000319357.5	37	c.538	CCDS5470.1	7	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884004	0.33255	.	.	ENSG00000164543	ENST00000319357	T	0.66815	-0.23	4.57	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.321554	0.21459	U	0.074194	T	0.52709	0.1751	N	0.21448	0.665	0.29155	N	0.878107	B	0.06786	0.001	B	0.01281	0.0	T	0.54241	-0.8323	10	0.59425	D	0.04	.	12.7945	0.57553	0.2068:0.7932:0.0:0.0	.	180	Q9UEE5	ST17A_HUMAN	C	180	ENSP00000319192:R180C	ENSP00000319192:R180C	R	+	1	0	STK17A	43614498	0.986000	0.35501	0.939000	0.37840	0.954000	0.61252	2.651000	0.46674	2.245000	0.73994	0.650000	0.86243	CGT	STK17A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000164543		0.318	STK17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17A	HGNC	protein_coding	OTTHUMT00000250902.1	-	0	43	0	C	NM_004760		43647973	1	tier1	-	no_errors	ENST00000319357	ensembl	human	known	74_37	missense	35.82	43	24	SNP	0.983	T	T	43647973	C	T	43647973	3	4	52	1	0	0	0	0	1	0	0	0	15337	884	31	1	548	1	STK17A	7	43647973	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1562962	43647973	115490690	333	12673											
BLVRA	644	genome.wustl.edu	37	chr7	43846645	43846645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttaagcttccatttcaaGtctgggtccttggagaatgt	9	16	9	7	0	2	1	1	0	1	1	4	2	4	1	2	2	1	1	2	2	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:43846645G>T	ENST00000402924.1	+	9	865	c.702G>T	c.(700-702)aaG>aaT	p.K234N	BLVRA_ENST00000265523.4_Missense_Mutation_p.K234N	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	234					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						TCCATTTCAAGTCTGGGTCCT	0.373																																																	0													65	64	64					7																	43846645		2203	4300	6503	SO:0001583	missense	0			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.702G>T	7.37:g.43846645G>T	ENSP00000385757:p.Lys234Asn		A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.K234N	ENST00000402924.1	37	c.702	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	G	9.325	1.059089	0.19987	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.23754	1.89;1.89	4.25	1.66	0.24008	Biliverdin reductase, catalytic (2);	0.459170	0.26193	N	0.025796	T	0.13030	0.0316	N	0.22421	0.69	0.30928	N	0.727234	P	0.34780	0.468	B	0.33196	0.159	T	0.22243	-1.0222	10	0.18710	T	0.47	.	6.4497	0.21896	0.6276:0.0:0.3724:0.0	.	234	P53004	BIEA_HUMAN	N	234	ENSP00000265523:K234N;ENSP00000385757:K234N	ENSP00000265523:K234N	K	+	3	2	BLVRA	43813170	0.971000	0.33674	0.998000	0.56505	0.990000	0.78478	0.007000	0.13174	0.102000	0.17638	0.462000	0.41574	AAG	BLVRA	-	pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A	ENSG00000106605		0.373	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	-	0	39	0	G	NM_000712		43846645	1	tier1	-	no_errors	ENST00000265523	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.993	T	T	43846645	G	T	43846645	3	4	52	1	0	0	0	0	1	0	0	0	1453	1020	36	3	728	3	BLVRA	7	43846645	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	198672	43846645	115292018	334	12674											
NUDCD3	23386	genome.wustl.edu	37	chr7	44432048	44432048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctccctccaggatggCgttccaccaatactcgccca	7	10	6	18	2	2	0	0	0	2	0	6	1	4	1	5	2	1	1	5	2	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:44432048C>T	ENST00000355451.7	-	5	1102	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	275	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TCCAGGATGGCGTTCCACCAA	0.587																																																	0													218	188	198					7																	44432048		2203	4300	6503	SO:0001583	missense	0			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.823G>A	7.37:g.44432048C>T	ENSP00000347626:p.Ala275Thr		Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.A275T	ENST00000355451.7	37	c.823	CCDS5490.2	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493204	0.84962	.	.	ENSG00000015676	ENST00000355451;ENST00000338427	T	0.42900	0.96	4.91	4.91	0.64330	CS-like domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.48642	1.525	0.80722	D	1	B	0.32939	0.391	B	0.33196	0.159	T	0.17048	-1.0382	10	0.28530	T	0.3	-12.5738	18.233	0.89939	0.0:1.0:0.0:0.0	.	275	Q8IVD9	NUDC3_HUMAN	T	275;31	ENSP00000347626:A275T	ENSP00000345922:A31T	A	-	1	0	NUDCD3	44398573	1.000000	0.71417	0.986000	0.45419	0.920000	0.55202	7.358000	0.79466	2.706000	0.92434	0.655000	0.94253	GCC	NUDCD3	-	superfamily_HSP20-like_chaperone,pfscan_CS_dom	ENSG00000015676		0.587	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD3	HGNC	protein_coding	OTTHUMT00000251248.3	-	0	56	0	C	NM_015332		44432048	-1	tier1	-	no_errors	ENST00000355451	ensembl	human	known	74_37	missense	26.55	83	30	SNP	1.000	T	T	44432048	C	T	44432048	3	4	52	1	0	0	0	0	1	0	0	0	10763	768	27	1	270	1	NUDCD3	7	44432048	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	585403	44432048	114706615	335	12675											
PKD1L1	168507	genome.wustl.edu	37	chr7	47925456	47925456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagactccagtcatgggCtctgtgggggttccccttgg	5	11	14	11	0	2	1	1	0	1	1	4	1	4	1	3	4	0	3	3	4	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:47925456C>A	ENST00000289672.2	-	18	3083	c.3033G>T	c.(3031-3033)gaG>gaT	p.E1011D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1011	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGTCATGGGCTCTGTGGGGG	0.602																																																	0													84	88	87					7																	47925456		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3033G>T	7.37:g.47925456C>A	ENSP00000289672:p.Glu1011Asp		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.E1011D	ENST00000289672.2	37	c.3033	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	8.404	0.842717	0.16963	.	.	ENSG00000158683	ENST00000289672	T	0.21191	2.02	4.88	0.358	0.16084	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	2571.270000	0.00166	N	0.000000	T	0.19005	0.0456	L	0.44542	1.39	0.09310	N	1	D	0.53312	0.959	B	0.44315	0.446	T	0.21621	-1.0240	10	0.13108	T	0.6	-2.1129	4.1268	0.10131	0.0:0.4733:0.1874:0.3393	.	1011	Q8TDX9	PK1L1_HUMAN	D	1011	ENSP00000289672:E1011D	ENSP00000289672:E1011D	E	-	3	2	PKD1L1	47891981	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.192000	0.09587	0.177000	0.19895	0.579000	0.79373	GAG	PKD1L1	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000158683		0.602	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0	19	0	C	NM_138295		47925456	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.000	A	A	47925456	C	A	47925456	3	1	52	1	0	0	0	0	1	0	0	0	12003	796	28	3	5676	3	PKD1L1	7	47925456	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3493408	47925456	111213207	336	12676											
GRB10	2887	genome.wustl.edu	37	chr7	50737427	50737427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcacactcacctgctttgCggcggcctggctcggaggta	5	8	15	13	3	1	0	1	0	0	0	2	1	1	1	2	6	2	4	2	6	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:50737427C>T	ENST00000401949.1	-	7	965	c.496G>A	c.(496-498)Gca>Aca	p.A166T	GRB10_ENST00000439599.1_Missense_Mutation_p.A160T|GRB10_ENST00000398812.2_Missense_Mutation_p.A166T|GRB10_ENST00000402578.1_Missense_Mutation_p.A108T|GRB10_ENST00000407526.1_Missense_Mutation_p.A108T|GRB10_ENST00000406641.1_Missense_Mutation_p.A108T|GRB10_ENST00000335866.3_Missense_Mutation_p.A108T|GRB10_ENST00000402497.1_Missense_Mutation_p.A108T|GRB10_ENST00000357271.5_Missense_Mutation_p.A166T|GRB10_ENST00000398810.2_Missense_Mutation_p.A108T|GRB10_ENST00000403097.1_Missense_Mutation_p.A160T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	166	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACCTGCTTTGCGGCGGCCTGG	0.587									Russell-Silver syndrome																																								0													20	23	22					7																	50737427		1873	4092	5965	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.496G>A	7.37:g.50737427C>T	ENSP00000385770:p.Ala166Thr		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.A166T	ENST00000401949.1	37	c.496	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	.	14.00	2.406032	0.42715	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.71	-3.46	0.04767	Ras-association (2);	0.903088	0.09819	N	0.751759	T	0.48926	0.1527	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.004	B;B;B	0.10450	0.005;0.003;0.005	T	0.33214	-0.9877	10	0.13108	T	0.6	-2.1626	6.1857	0.20495	0.0:0.2538:0.3477:0.3985	.	160;166;166	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	T	166;160;108;108;108;160;108;166;108;166;108	ENSP00000381793:A166T;ENSP00000406716:A160T;ENSP00000338543:A108T;ENSP00000381790:A108T;ENSP00000385189:A108T;ENSP00000385544:A160T;ENSP00000385366:A108T;ENSP00000349818:A166T;ENSP00000385046:A108T;ENSP00000385770:A166T;ENSP00000385748:A108T	ENSP00000338543:A108T	A	-	1	0	GRB10	50704921	0.000000	0.05858	0.000000	0.03702	0.734000	0.41952	0.177000	0.16801	-0.500000	0.06614	0.655000	0.94253	GCA	GRB10	-	smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000106070		0.587	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	HGNC	protein_coding	OTTHUMT00000319157.1	-	0	48	0	C			50737427	-1	tier1	-	no_errors	ENST00000398812	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.000	T	T	50737427	C	T	50737427	3	4	52	1	0	0	0	0	1	0	0	0	6783	768	27	1	1340	1	GRB10	7	50737427	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2811971	50737427	108401236	337	12677											
EGFR	1956	genome.wustl.edu	37	chr7	55231514	55231514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatcacctgcacaggaCgggtaagagccccttgctgc	10	7	11	13	1	1	2	1	1	0	1	1	3	1	3	3	2	5	3	3	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:55231514C>T	ENST00000275493.2	+	14	1897	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	EGFR_ENST00000342916.3_Missense_Mutation_p.R574W|EGFR_ENST00000454757.2_Missense_Mutation_p.R521W|EGFR_ENST00000344576.2_Missense_Mutation_p.R574W|EGFR_ENST00000455089.1_Missense_Mutation_p.R529W|EGFR_ENST00000442591.1_Missense_Mutation_p.R574W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	574					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTGCACAGGACGGGTAAGAGC	0.572		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													125	117	120					7																	55231514		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1720C>T	7.37:g.55231514C>T	ENSP00000275493:p.Arg574Trp		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R574W	ENST00000275493.2	37	c.1720	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393532	0.62066	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	5.65	3.8	0.43715	Growth factor, receptor (1);	0.272209	0.42172	D	0.000746	T	0.47021	0.1423	M	0.68952	2.095	0.39276	D	0.964478	D;D;D;D	0.71674	0.996;0.98;0.998;0.985	P;P;P;P	0.56514	0.8;0.645;0.755;0.559	T	0.54397	-0.8300	10	0.87932	D	0	.	13.8424	0.63446	0.2753:0.7247:0.0:0.0	.	529;574;574;574	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	W	529;574;444;574;574;574;521;368	ENSP00000415559:R529W;ENSP00000342376:R574W;ENSP00000345973:R574W;ENSP00000275493:R574W;ENSP00000410031:R574W;ENSP00000395243:R521W	ENSP00000275493:R574W	R	+	1	2	EGFR	55199008	0.998000	0.40836	0.939000	0.37840	0.211000	0.24417	2.796000	0.47869	0.700000	0.31782	0.655000	0.94253	CGG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000146648		0.572	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0	11	0	C	NM_005228		55231514	1	tier1	-	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.987	T	T	55231514	C	T	55231514	3	4	52	1	0	0	0	0	1	0	0	0	4981	527	19	1	1785	1	EGFR	7	55231514	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4494087	55231514	103907149	338	12678											
LAT2	7462	genome.wustl.edu	37	chr7	73639016	73639018	+	In_Frame_Del	DEL	GAG	GAG	-																															gcccggtgggaagcccagacGaggaggacggggaaccggat																								rs35725154	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:73639016_73639018delGAG	ENST00000460943.1	+	13	1565_1567	c.676_678delGAG	c.(676-678)gagdel	p.E227del	LAT2_ENST00000344995.5_In_Frame_Del_p.E227del|LAT2_ENST00000275635.7_In_Frame_Del_p.E227del|LAT2_ENST00000398475.1_In_Frame_Del_p.E227del	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAGCCCAGACGAGGAGGACGGGG	0.616																																																	0																																										SO:0001651	inframe_deletion	0			AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"linker for activation of B cells", "non-T cell activation linker", "linker for activation of T cells, transmembrane adaptor 2"	605719	"Williams-Beuren syndrome chromosome region 5"	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.676_678delGAG	7.37:g.73639019_73639021delGAG	ENSP00000420494:p.Glu227del		B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	In_Frame_Del	DEL	NULL	p.E227in_frame_del	ENST00000460943.1	37	c.676_678	CCDS5566.2	7																																																																																			LAT2	-	NULL	ENSG00000086730		0.616	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LAT2	HGNC	protein_coding	OTTHUMT00000277062.1		0	67	0	GAG			73639018	1	tier1		no_errors	ENST00000275635	ensembl	human	known	74_37	in_frame_del	45.00	44	36	DEL	0.855:0.885:0.890	-	-	73639018	GAG	-	73639016	7	5	52	1	0	1	0	1	0	0	0	0	8673	1059	37	0	718	0	LAT2	7	73639016	In_Frame_Del	DEL	GAG	TCGA-L5-A43J-01A-12D-A247-09	18407502	73639016	85499647	339	12679											
CLIP2	7461	genome.wustl.edu	37	chr7	73770923	73770923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctctgtggcctcctcCgtggggggtcggcccagccg	2	8	16	15	3	2	0	1	0	1	0	5	0	4	0	5	5	2	1	5	5	0	0	rs199730295		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:73770923C>T	ENST00000395060.1	+	4	987	c.987C>T	c.(985-987)tcC>tcT	p.S329S	CLIP2_ENST00000223398.6_Silent_p.S329S|CLIP2_ENST00000361545.5_Silent_p.S329S			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	329	Ser-rich.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCCTCCTCCGTGGGGGGTC	0.627																																																	0													35	31	32					7																	73770923		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.987C>T	7.37:g.73770923C>T			O14527|O43611	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.S329	ENST00000395060.1	37	c.987	CCDS5569.1	7																																																																																			CLIP2	-	superfamily_CAP-Gly_domain	ENSG00000106665		0.627	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	-	0	35	0	C	NM_003388		73770923	1	tier1	rs199730295	no_errors	ENST00000223398	ensembl	human	known	74_37	silent	33.33	42	21	SNP	0.192	T	T	73770923	C	T	73770923	2	4	52	1	0	0	0	0	0	0	0	1	3540	639	23	1		1	CLIP2	7	73770923	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	131907	73770923	85367740	340	12680											
DTX2	113878	genome.wustl.edu	37	chr7	76131626	76131626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctccaggactgcatcatCtgcatggagaagctgtccac	9	9	9	14	0	2	1	1	0	1	1	5	3	5	2	3	2	3	3	3	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:76131626C>T	ENST00000324432.5	+	9	1752	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	DTX2_ENST00000446820.2_Silent_p.I367I|DTX2_ENST00000446600.1_Silent_p.I323I|DTX2_ENST00000430490.2_Silent_p.I414I|DTX2_ENST00000307569.8_Silent_p.I367I|DTX2_ENST00000413936.2_Silent_p.I414I	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	414					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						ACTGCATCATCTGCATGGAGA	0.567																																																	0													72	58	63					7																	76131626		2201	4285	6486	SO:0001819	synonymous_variant	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.1242C>T	7.37:g.76131626C>T			Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Silent	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.I414	ENST00000324432.5	37	c.1242	CCDS5587.1	7																																																																																			DTX2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000091073		0.567	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2	-	0	52	0	C			76131626	1	tier1	-	no_errors	ENST00000324432	ensembl	human	known	74_37	silent	36.54	66	38	SNP	1.000	T	T	76131626	C	T	76131626	2	4	52	1	0	0	0	0	0	0	0	1	4808	903	32	3		3	DTX2	7	76131626	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2360703	76131626	83007037	341	12681											
PHTF2	57157	genome.wustl.edu	37	chr7	77569845	77569845	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcttaatcttttttagCgattactttttgcaaaactc	10	19	3	9	1	3	0	1	0	2	0	4	1	3	0	0	0	4	1	0	0	5	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:77569845C>T	ENST00000248550.7	+	14	1817	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	PHTF2_ENST00000275575.7_Splice_Site_p.R543*|PHTF2_ENST00000416283.2_Splice_Site_p.R547*|PHTF2_ENST00000307305.8_Splice_Site_p.R543*|PHTF2_ENST00000422959.2_Splice_Site_p.R547*			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCTTTTTTAGCGATTACTTTT	0.303																																																	0													51	48	49					7																	77569845		1794	4057	5851	SO:0001630	splice_region_variant	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1741-1C>T	7.37:g.77569845C>T			A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Nonsense_Mutation	SNP	pfam_TF_homeodomain_male	p.R581*	ENST00000248550.7	37	c.1741		7	.	.	.	.	.	.	.	.	.	.	C	37	6.351818	0.97498	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.57	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.863	11.1134	0.48246	0.4079:0.5921:0.0:0.0	.	.	.	.	X	547;547;543;543;547;581	.	.	R	+	1	2	PHTF2	77407781	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.388000	0.59633	2.627000	0.88993	0.467000	0.42956	CGA	PHTF2	-	NULL	ENSG00000006576		0.303	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	-	0	41	0	C	NM_020432	Nonsense_Mutation	77569845	1	tier1	-	no_errors	ENST00000248550	ensembl	human	known	74_37	nonsense	20.37	43	11	SNP	1.000	T	T	77569845	C	T	77569845	5	4	52	1	0	0	0	0	0	0	1	0	11902	782	27	1	1743	1	PHTF2	7	77569845	Splice_Site	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1438219	77569845	81568818	342	12682											
ABCB4	5244	genome.wustl.edu	37	chr7	87074282	87074282	+	Frame_Shift_Del	DEL	A	A	-																															gaaagctccaattaggattgAaaaaaaaacctgagcaaaat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:87074282delA	ENST00000265723.4	-	10	1126	c.1015delT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATTAGGATTGAAAAAAAAACC	0.348																																																	1	Deletion - Frameshift(1)	lung(1)	GRCh37	CD034702	ABCB4	D							56	53	54					7																	87074282		2203	4300	6503	SO:0001589	frameshift_variant	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1015delT	7.37:g.87074282delA	ENSP00000265723:p.Ser339fs		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S339fs	ENST00000265723.4	37	c.1015	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000005471		0.348	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1		0	25	0	A	NM_000443		87074282	-1	tier1		no_errors	ENST00000265723	ensembl	human	known	74_37	frame_shift_del	30.00	35	15	DEL	1.000	-	-	87074282	A	-	87074282	7	5	52	1	0	1	0	1	0	0	0	0	43	246	9	0	2921	0	ABCB4	7	87074282	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	9504437	87074282	72064381	343	12683											
ABCB1	5243	genome.wustl.edu	37	chr7	87214954	87214954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgatggcagccaaagttcCcaccaccatatacaacttgt	13	9	7	12	0	0	1	0	1	0	0	1	2	1	1	4	1	3	2	4	1	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:87214954C>T	ENST00000265724.3	-	5	577	c.160G>A	c.(160-162)Gga>Aga	p.G54R	ABCB1_ENST00000543898.1_Missense_Mutation_p.G54R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	54	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GCCAAAGTTCCCACCACCATA	0.388																																																	0													78	81	80					7																	87214954		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.160G>A	7.37:g.87214954C>T	ENSP00000265724:p.Gly54Arg		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G54R	ENST00000265724.3	37	c.160	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063580	0.55432	.	.	ENSG00000085563	ENST00000265724;ENST00000543898	D;D	0.91577	-2.7;-2.87	5.72	5.72	0.89469	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96990	0.9017	H	0.96633	3.855	0.44366	D	0.99726	D;D	0.89917	1.0;1.0	D;D	0.97110	0.983;1.0	D	0.97924	1.0316	10	0.87932	D	0	-18.6143	15.3886	0.74723	0.0:1.0:0.0:0.0	.	54;54	B5AK60;P08183	.;MDR1_HUMAN	R	54	ENSP00000265724:G54R;ENSP00000444095:G54R	ENSP00000265724:G54R	G	-	1	0	ABCB1	87052890	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.949000	0.56668	2.700000	0.92200	0.563000	0.77884	GGA	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	-	0	35	0	C	NM_000927		87214954	-1	tier1	-	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	T	T	87214954	C	T	87214954	3	4	52	1	0	0	0	0	1	0	0	0	40	632	22	3	3782	3	ABCB1	7	87214954	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	140672	87214954	71923709	344	12684											
ZNF804B	219578	genome.wustl.edu	37	chr7	88956723	88956724	+	Frame_Shift_Ins	INS	-	-	A																															ctaagtcatggaaagatgagINSaaaaaacaagaaaaagcact																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:88956723_88956724insA	ENST00000333190.4	+	3	924_925	c.315_316insA	c.(316-318)aaafs	p.K106fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	106							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGAAAGATGAGAAAAAACAAGA	0.361										HNSCC(36;0.09)																																							0																																										SO:0001589	frameshift_variant	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.321dupA	7.37:g.88956729_88956729dupA	ENSP00000329638:p.Lys106fs		B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	pfam_Znf_C2H2_jaz	p.Q107fs	ENST00000333190.4	37	c.315_316	CCDS5613.1	7																																																																																			ZNF804B	-	NULL	ENSG00000182348		0.361	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2		0	36	0	-	NM_181646		88956724	1	tier1		no_errors	ENST00000333190	ensembl	human	known	74_37	frame_shift_ins	26.32	28	10	INS	0.992:1.000	A	A	88956724	-	A	88956723	7	5	52	1	0	1	1	0	0	0	0	0	18219	933	33	0	325	0	ZNF804B	7	88956723	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	1741769	88956723	70181940	345	12685											
TECPR1	25851	genome.wustl.edu	37	chr7	97860399	97860399	+	Frame_Shift_Del	DEL	C	C	-																															ggcggccctgcaccttccggCtctcgcagcaagacaggctg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:97860399delC	ENST00000447648.2	-	15	2455	c.2156delG	c.(2155-2157)agcfs	p.S719fs	TECPR1_ENST00000542604.1_Frame_Shift_Del_p.S649fs|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.S720fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	719					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCTTCCGGCTCTCGCAGCA	0.682																																																	0													19	26	23					7																	97860399		2124	4206	6330	SO:0001589	frameshift_variant	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2156delG	7.37:g.97860399delC	ENSP00000404923:p.Ser719fs		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.S720fs	ENST00000447648.2	37	c.2159	CCDS47648.1	7																																																																																			TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.682	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1		0	50	0	C	NM_015395		97860399	-1	tier1		no_errors	ENST00000379795	ensembl	human	known	74_37	frame_shift_del	44.30	44	35	DEL	1.000	-	-	97860399	C	-	97860399	7	5	52	1	0	1	0	1	0	0	0	0	15790	797	28	0	1389	0	TECPR1	7	97860399	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	8903676	97860399	61278264	346	12686											
GPC2	221914	genome.wustl.edu	37	chr7	99767927	99767927	+	Frame_Shift_Del	DEL	C	C	-																															ggtgtgaaaaccaatagatgCccccccactcctgctccggc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:99767927delC	ENST00000292377.2	-	10	1833	c.1666delG	c.(1666-1668)gcafs	p.A556fs	GAL3ST4_ENST00000482469.1_5'Flank|GAL3ST4_ENST00000423751.1_5'Flank|GAL3ST4_ENST00000360039.4_5'Flank|GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	556					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuron differentiation (GO:0030182)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	anchored component of membrane (GO:0031225)|endoplasmic reticulum (GO:0005783)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAATAGATGCCCCCCCACTC	0.617																																																	0													63	50	54					7																	99767927		2203	4300	6503	SO:0001589	frameshift_variant	0			BX375153	CCDS5689.1	7q22.1	2007-02-16	2007-02-15		ENSG00000213420	ENSG00000213420		"Proteoglycans / Cell Surface : Glypicans"	4450	protein-coding gene	gene with protein product	"glypican proteoglycan 2, cerebroglycan proteoglycan"		"glypican 2 (cerebroglycan)"			8294498	Standard	NM_152742		Approved	cerebroglycan, FLJ38962, DKFZp547M109	uc003utv.3	Q8N158	OTTHUMG00000154894	ENST00000292377.2:c.1666delG	7.37:g.99767927delC	ENSP00000292377:p.Ala556fs		A4D2A7	Frame_Shift_Del	DEL	pfam_Glypican	p.A556fs	ENST00000292377.2	37	c.1666	CCDS5689.1	7																																																																																			GPC2	-	NULL	ENSG00000213420		0.617	GPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC2	HGNC	protein_coding	OTTHUMT00000337556.1		0	80	0	C	NM_152742		99767927	-1	tier1		no_errors	ENST00000292377	ensembl	human	known	74_37	frame_shift_del	22.32	87	25	DEL	0.006	-	-	99767927	C	-	99767927	7	5	52	1	0	1	0	1	0	0	0	0	6624	739	26	0	77	0	GPC2	7	99767927	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	1907528	99767927	59370736	347	12687											
PILRB	29990	genome.wustl.edu	37	chr7	99956488	99956490	+	In_Frame_Del	DEL	CTT	CTT	-																															ggccacttccacgggcagtcCttctacagcacaaggccgcc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:99956488_99956490delCTT	ENST00000452089.1	+	7	1299_1301	c.240_242delCTT	c.(238-243)tccttc>tcc	p.F81del	PILRB_ENST00000444073.1_In_Frame_Del_p.F81del|PILRB_ENST00000609309.1_In_Frame_Del_p.F81del|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Intron|PILRB_ENST00000610247.1_In_Frame_Del_p.F81del			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	81	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGGGCAGTCCTTCTACAGCACA	0.537																																																	0																																										SO:0001651	inframe_deletion	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.240_242delCTT	7.37:g.99956488_99956490delCTT	ENSP00000391748:p.Phe81del		Q69YF9|Q9HBS0	In_Frame_Del	DEL	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.F81in_frame_del	ENST00000452089.1	37	c.240_242	CCDS43622.1	7																																																																																			PILRB	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000121716		0.537	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2		0	57	0	CTT	NM_178238		99956490	1	tier1		no_errors	ENST00000444073	ensembl	human	known	74_37	in_frame_del	19.10	72	17	DEL	0.108:0.107:0.153	-	-	99956490	CTT	-	99956488	7	5	52	1	0	1	0	1	0	0	0	0	11965	668	24	0	246	0	PILRB	7	99956488	In_Frame_Del	DEL	CTT	TCGA-L5-A43J-01A-12D-A247-09	188561	99956488	59182175	348	12688											
MUC17	140453	genome.wustl.edu	37	chr7	100677782	100677782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctcccactgctgaaGgtaccagcatgccaacctca	10	7	6	18	0	1	1	1	1	0	0	3	1	3	1	6	1	5	3	6	1	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:100677782G>A	ENST00000306151.4	+	3	3149	c.3085G>A	c.(3085-3087)Ggt>Agt	p.G1029S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1029	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTGCTGAAGGTACCAGCAT	0.512																																																	0													485	389	421					7																	100677782		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3085G>A	7.37:g.100677782G>A	ENSP00000302716:p.Gly1029Ser		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.G1029S	ENST00000306151.4	37	c.3085	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	3.471	-0.107866	0.06924	.	.	ENSG00000169876	ENST00000306151	T	0.03468	3.92	0.74	-0.568	0.11760	.	.	.	.	.	T	0.01730	0.0055	N	0.11560	0.145	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.48917	-0.8992	9	0.18276	T	0.48	.	2.305	0.04172	0.2643:0.34:0.3957:0.0	.	1029	Q685J3	MUC17_HUMAN	S	1029	ENSP00000302716:G1029S	ENSP00000302716:G1029S	G	+	1	0	MUC17	100464502	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.113000	0.03296	-0.162000	0.10964	0.134000	0.15878	GGT	MUC17	-	NULL	ENSG00000169876		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	81	0	G	NM_001040105		100677782	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	38.03	88	54	SNP	0.000	A	A	100677782	G	A	100677782	3	1	52	1	0	0	0	0	1	0	0	0	10012	1000	35	3	3095	3	MUC17	7	100677782	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	721294	100677782	58460881	349	12689											
CUX1	1523	genome.wustl.edu	37	chr7	101845168	101845168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaggtggcagccagcctcGggccgagcgcagtcagctcc	6	4	16	15	4	1	0	1	0	0	0	3	2	2	1	4	4	4	3	4	4	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:101845168G>T	ENST00000292535.7	+	18	2629	c.2591G>T	c.(2590-2592)cGg>cTg	p.R864L	CUX1_ENST00000550008.2_Missense_Mutation_p.R808L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.R762L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R706L|CUX1_ENST00000360264.3_Missense_Mutation_p.R875L|CUX1_ENST00000549414.2_Missense_Mutation_p.R842L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	864					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCCAGCCTCGGGCCGAGCGC	0.657																																																	0													41	43	42					7																	101845168		2203	4300	6503	SO:0001583	missense	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2591G>T	7.37:g.101845168G>T	ENSP00000292535:p.Arg864Leu		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R875L	ENST00000292535.7	37	c.2624	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.185419	0.94885	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.64438	-0.07;-0.04;-0.1;-0.1;-0.1;-0.09	5.29	5.29	0.74685	.	0.254652	0.31221	N	0.008028	T	0.72423	0.3458	L	0.60455	1.87	0.80722	D	1	P;D	0.56035	0.956;0.974	P;P	0.55545	0.605;0.778	T	0.75476	-0.3304	10	0.72032	D	0.01	-32.4629	17.9256	0.88982	0.0:0.0:1.0:0.0	.	864;875	P39880;P39880-3	CUX1_HUMAN;.	L	875;864;842;808;762;706	ENSP00000353401:R875L;ENSP00000292535:R864L;ENSP00000446630:R842L;ENSP00000447373:R808L;ENSP00000450125:R762L;ENSP00000451558:R706L	ENSP00000292535:R864L	R	+	2	0	CUX1	101631888	1.000000	0.71417	0.019000	0.16419	0.712000	0.41017	4.247000	0.58750	2.483000	0.83821	0.655000	0.94253	CGG	CUX1	-	NULL	ENSG00000257923		0.657	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0	43	0	G	NM_001913		101845168	1	tier1	-	no_errors	ENST00000360264	ensembl	human	known	74_37	missense	39.60	61	40	SNP	0.187	T	T	101845168	G	T	101845168	3	4	52	1	0	0	0	0	1	0	0	0	4073	1116	39	2	2728	2	CUX1	7	101845168	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1167386	101845168	57293495	350	12690											
DLD	1738	genome.wustl.edu	37	chr7	107557313	107557313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtttgcattggccgacgacCctttactaagaatttgggac	9	12	11	9	2	0	1	0	0	0	1	0	4	0	2	2	3	2	2	2	3	3	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:107557313C>A	ENST00000205402.5	+	10	1231	c.950C>A	c.(949-951)cCc>cAc	p.P317H	DLD_ENST00000437604.2_Missense_Mutation_p.P269H|DLD_ENST00000440410.1_Missense_Mutation_p.P294H|DLD_ENST00000537148.1_Missense_Mutation_p.P218H	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	317					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	GGCCGACGACCCTTTACTAAG	0.383																																																	0													149	145	146					7																	107557313		2203	4300	6503	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.950C>A	7.37:g.107557313C>A	ENSP00000205402:p.Pro317His		B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH	p.P317H	ENST00000205402.5	37	c.950	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459853	0.84317	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;D;T;D	0.82526	-0.35;-0.35;-1.51;-0.35;-1.62	5.7	4.81	0.61882	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.97352	0.9964	10	0.87932	D	0	-0.1693	16.01	0.80396	0.1356:0.8644:0.0:0.0	.	294;269;317	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	H	317;317;218;294;269;267	ENSP00000205402:P317H;ENSP00000390667:P317H;ENSP00000442399:P218H;ENSP00000417016:P294H;ENSP00000387542:P269H	ENSP00000205402:P317H	P	+	2	0	DLD	107344549	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.378000	0.79679	1.392000	0.46585	0.460000	0.39030	CCC	DLD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Lipoamide_DH	ENSG00000091140		0.383	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	HGNC	protein_coding	OTTHUMT00000337194.3	-	0	55	0	C	NM_000108		107557313	1	tier1	-	no_errors	ENST00000205402	ensembl	human	known	74_37	missense	21.79	122	34	SNP	1.000	A	A	107557313	C	A	107557313	3	1	52	1	0	0	0	0	1	0	0	0	4565	623	22	3	988	3	DLD	7	107557313	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5712145	107557313	51581350	351	12691											
MET	4233	genome.wustl.edu	37	chr7	116340117	116340117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtatgtcagcaagcctgggGcccagcttgctagacaaata	11	8	11	11	1	1	1	1	0	0	1	1	1	1	1	2	2	4	4	2	2	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:116340117G>A	ENST00000318493.6	+	2	1166	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	MET_ENST00000397752.3_Missense_Mutation_p.A327T|MET_ENST00000436117.2_Missense_Mutation_p.A327T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAGCCTGGGGCCCAGCTTGC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													51	50	51					7																	116340117		1897	4107	6004	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.979G>A	7.37:g.116340117G>A	ENSP00000317272:p.Ala327Thr		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.A327T	ENST00000318493.6	37	c.979	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546185	0.27652	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.11712	2.75;2.75;2.75	6.04	4.23	0.50019	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.414677	0.28493	N	0.015149	T	0.13884	0.0336	M	0.61703	1.905	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.23854	0.004;0.003;0.013;0.003;0.003;0.006;0.003;0.003;0.012;0.002;0.006;0.092;0.092	B;B;B;B;B;B;B;B;B;B;B;B;B	0.24974	0.011;0.016;0.052;0.026;0.026;0.016;0.026;0.016;0.022;0.009;0.016;0.057;0.057	T	0.02179	-1.1200	10	0.41790	T	0.15	.	11.8575	0.52446	0.0635:0.0:0.8134:0.1231	.	327;327;327;327;327;327;327;327;327;327;327;327;327	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	T	327	ENSP00000380860:A327T;ENSP00000317272:A327T;ENSP00000410980:A327T	ENSP00000317272:A327T	A	+	1	0	MET	116127353	1.000000	0.71417	0.998000	0.56505	0.831000	0.47069	2.472000	0.45136	0.875000	0.35847	0.563000	0.77884	GCC	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000105976		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0	41	0	G			116340117	1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	37.10	38	23	SNP	1.000	A	A	116340117	G	A	116340117	3	1	52	1	0	0	0	0	1	0	0	0	9523	1203	42	3	981	3	MET	7	116340117	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	8782804	116340117	42798546	352	12692											
GPR37	2861	genome.wustl.edu	37	chr7	124386623	124386623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtggacatttcacggcGtatggtactgaaaggcgaga	14	8	13	6	3	1	2	1	1	0	1	1	4	1	3	0	4	1	2	0	4	5	3	rs200937236		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:124386623G>A	ENST00000303921.2	-	2	2448	c.1798C>T	c.(1798-1800)Cgc>Tgc	p.R600C		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	600					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATTTCACGGCGTATGGTACTG	0.448																																																	0													181	161	167					7																	124386623		2203	4300	6503	SO:0001583	missense	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1798C>T	7.37:g.124386623G>A	ENSP00000306449:p.Arg600Cys		A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.R600C	ENST00000303921.2	37	c.1798	CCDS5792.1	7	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532958	0.64972	.	.	ENSG00000170775	ENST00000303921	T	0.75938	-0.98	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000027	T	0.80571	0.4648	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.80783	-0.1228	10	0.48119	T	0.1	-22.7768	18.0541	0.89358	0.0:0.0:1.0:0.0	.	600	O15354	GPR37_HUMAN	C	600	ENSP00000306449:R600C	ENSP00000306449:R600C	R	-	1	0	GPR37	124173859	1.000000	0.71417	0.751000	0.31187	0.857000	0.48899	7.208000	0.77907	2.489000	0.83994	0.655000	0.94253	CGC	GPR37	-	NULL	ENSG00000170775		0.448	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	-	0	29	0	G	NM_005302		124386623	-1	tier1	rs200937236	no_errors	ENST00000303921	ensembl	human	known	74_37	missense	45.95	19	17	SNP	0.989	A	A	124386623	G	A	124386623	3	1	52	1	0	0	0	0	1	0	0	0	6717	1145	40	1	47	1	GPR37	7	124386623	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	8046506	124386623	34752040	353	12693											
FLNC	2318	genome.wustl.edu	37	chr7	128498203	128498203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcaaggtggtgactcGgggccctgggctgtcccagg	5	7	17	12	1	0	1	0	1	0	0	2	1	1	1	3	6	2	2	3	6	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:128498203G>A	ENST00000325888.8	+	47	8183	c.7922G>A	c.(7921-7923)cGg>cAg	p.R2641Q	FLNC_ENST00000346177.6_Missense_Mutation_p.R2608Q|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2641	Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGGTGACTCGGGGCCCTGGG	0.647																																																	0													21	23	22					7																	128498203		2025	4129	6154	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7922G>A	7.37:g.128498203G>A	ENSP00000327145:p.Arg2641Gln		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2641Q	ENST00000325888.8	37	c.7922	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454405	0.84209	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84516	-1.86;-1.86	5.07	5.07	0.68467	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.056530	0.64402	D	0.000010	D	0.85856	0.5794	L	0.32530	0.975	0.43317	D	0.995339	P;D	0.69078	0.933;0.997	P;P	0.55667	0.564;0.781	D	0.84885	0.0833	10	0.33141	T	0.24	.	18.4516	0.90705	0.0:0.0:1.0:0.0	.	2608;2641	Q14315-2;Q14315	.;FLNC_HUMAN	Q	2641;2608	ENSP00000327145:R2641Q;ENSP00000344002:R2608Q	ENSP00000327145:R2641Q	R	+	2	0	FLNC	128285439	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	5.747000	0.68689	2.349000	0.79799	0.557000	0.71058	CGG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.647	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	51	0	G			128498203	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	35.83	76	43	SNP	1.000	A	A	128498203	G	A	128498203	3	1	52	1	0	0	0	0	1	0	0	0	5957	1116	39	1	8108	1	FLNC	7	128498203	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4111580	128498203	30640460	354	12694											
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138749694	138749695	+	Frame_Shift_Del	DEL	AG	AG	-																															tcccctcggacaggattgatAgagagactccaggtatgaag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:138749694_138749695delAG	ENST00000242351.5	-	8	2239_2240	c.1923_1924delCT	c.(1921-1926)ctctatfs	p.Y642fs	ZC3HAV1_ENST00000464606.1_Frame_Shift_Del_p.Y764fs|ZC3HAV1_ENST00000471652.1_Frame_Shift_Del_p.Y642fs	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	642	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGGATTGATAGAGAGACTCCA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1923_1924delCT	7.37:g.138749698_138749699delAG	ENSP00000242351:p.Tyr642fs		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Y642fs	ENST00000242351.5	37	c.1924_1923	CCDS5851.1	7																																																																																			ZC3HAV1	-	pfscan_WWE-dom	ENSG00000105939		0.436	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1		0	32	0	AG	NM_020119		138749695	-1	tier1		no_errors	ENST00000242351	ensembl	human	known	74_37	frame_shift_del	14.89	40	7	DEL	0.035:0.001	-	-	138749695	AG	-	138749694	7	5	52	1	0	1	0	1	0	0	0	0	17623	420	15	0	812	0	ZC3HAV1	7	138749694	Frame_Shift_Del	DEL	AG	TCGA-L5-A43J-01A-12D-A247-09	10251491	138749694	20388969	355	12695											
OR2F1	26211	genome.wustl.edu	37	chr7	143657236	143657236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacagccgactccacactcCcatgtatttctttctcacca	9	11	5	16	1	2	0	1	0	2	0	5	2	4	1	4	1	1	1	4	1	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:143657236C>T	ENST00000392899.1	+	1	210	c.173C>T	c.(172-174)cCc>cTc	p.P58L	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	58					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTCCACACTCCCATGTATTTC	0.502																																																	0													280	265	270					7																	143657236		2203	4297	6500	SO:0001583	missense	0			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"GPCR / Class A : Olfactory receptors"	8246	protein-coding gene	gene with protein product		608497	"olfactory receptor, family 2, subfamily F, member 1"	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.173C>T	7.37:g.143657236C>T	ENSP00000376633:p.Pro58Leu		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P58L	ENST00000392899.1	37	c.173	CCDS5887.1	7	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003878	0.93287	.	.	ENSG00000213215	ENST00000392899	T	0.02032	4.49	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.22360	0.0539	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08027	-1.0742	10	0.87932	D	0	-45.0756	17.2626	0.87075	0.0:1.0:0.0:0.0	.	58	Q13607	OR2F1_HUMAN	L	58	ENSP00000376633:P58L	ENSP00000376633:P58L	P	+	2	0	OR2F1	143288169	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.519000	0.81809	2.941000	0.99782	0.655000	0.94253	CCC	OR2F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000213215		0.502	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F1	HGNC	protein_coding	OTTHUMT00000349581.1	-	0	103	0	C			143657236	1	tier1	-	no_errors	ENST00000392899	ensembl	human	known	74_37	missense	38.69	122	77	SNP	1.000	T	T	143657236	C	T	143657236	3	4	52	1	0	0	0	0	1	0	0	0	11035	623	22	3	175	3	OR2F1	7	143657236	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4907542	143657236	15481427	356	12696											
ZNF746	155061	genome.wustl.edu	37	chr7	149172342	149172342	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcaggactgagctcAcccatgtccctctcaggccg	8	6	10	17	1	2	1	2	1	1	0	4	2	3	2	4	2	2	2	4	2	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:149172342A>G	ENST00000340622.3	-	7	1348	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	ZNF746_ENST00000458143.2_Silent_p.G357G			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	356					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GACTGAGCTCACCCATGTCCC	0.682																																																	0													18	21	20					7																	149172342		2203	4299	6502	SO:0001819	synonymous_variant	0			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1068T>C	7.37:g.149172342A>G			A8K6Z9|Q6ZRF9	Silent	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G357	ENST00000340622.3	37	c.1071	CCDS5897.1	7																																																																																			ZNF746	-	NULL	ENSG00000181220		0.682	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	-	0	39	0	A	NM_152557		149172342	-1	tier1	-	no_errors	ENST00000458143	ensembl	human	known	74_37	silent	34.07	60	31	SNP	0.000	G	G	149172342	A	G	149172342	2	3	52	1	0	0	0	0	0	0	0	1	18177	146	6	4		4	ZNF746	7	149172342	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	5515106	149172342	9966321	357	12697											
KRBA1	84626	genome.wustl.edu	37	chr7	149421922	149421922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggtcccccaacccagcTggggccctgaggctcaaggt	7	5	15	14	0	1	1	1	1	0	0	2	2	2	1	4	6	2	2	4	6	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:149421922T>C	ENST00000485033.2	+	8	1108	c.1108T>C	c.(1108-1110)Tgg>Cgg	p.W370R	KRBA1_ENST00000255992.10_Missense_Mutation_p.W370R|KRBA1_ENST00000319551.8_Missense_Mutation_p.W370R|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	370										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAACCCAGCTGGGGCCCTGA	0.652																																																	0													15	19	18					7																	149421922		1896	4097	5993	SO:0001583	missense	0			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1108T>C	7.37:g.149421922T>C	ENSP00000420112:p.Trp370Arg		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.W370R	ENST00000485033.2	37	c.1108		7	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081761	0.36758	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.63580	0.04;-0.05;-0.05	3.82	3.82	0.43975	.	0.000000	0.37261	N	0.002165	T	0.61464	0.2349	L	0.29908	0.895	0.32049	N	0.597198	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.58989	-0.7538	10	0.08599	T	0.76	-6.9154	9.5771	0.39465	0.0:0.0:0.0:1.0	.	370;370	E7ENE9;A5PL33	.;KRBA1_HUMAN	R	370	ENSP00000255992:W370R;ENSP00000317165:W370R;ENSP00000420112:W370R	ENSP00000255992:W370R	W	+	1	0	KRBA1	149052855	1.000000	0.71417	0.944000	0.38274	0.075000	0.17131	1.869000	0.39519	1.702000	0.51228	0.533000	0.62120	TGG	KRBA1	-	NULL	ENSG00000133619		0.652	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	-	0	56	0	T	NM_032534		149421922	1	tier1	-	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	30.00	56	24	SNP	0.957	C	C	149421922	T	C	149421922	3	2	52	1	0	0	0	0	1	0	0	0	8466	1580	55	4	1138	4	KRBA1	7	149421922	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	249580	149421922	9716741	358	12698											
NOS3	4846	genome.wustl.edu	37	chr7	150707781	150707783	+	In_Frame_Del	DEL	CTC	CTC	-																															tggcgctgcctgccccactgCtcctcacccagctgcctctg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:150707781_150707783delCTC	ENST00000297494.3	+	22	3139_3141	c.2782_2784delCTC	c.(2782-2784)ctcdel	p.L929del	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'Flank|NOS3_ENST00000461406.1_In_Frame_Del_p.L723del	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCCCACTGCTCCTCACCCAGC	0.66																																																	0																																										SO:0001651	inframe_deletion	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2782_2784delCTC	7.37:g.150707784_150707786delCTC	ENSP00000297494:p.Leu929del		Q495E5	In_Frame_Del	DEL	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L929in_frame_del	ENST00000297494.3	37	c.2782_2784	CCDS5912.1	7																																																																																			NOS3	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk	ENSG00000164867		0.66	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2		0	26	0	CTC	NM_000603		150707783	1	tier1		no_errors	ENST00000297494	ensembl	human	known	74_37	in_frame_del	19.77	69	17	DEL	1.000:1.000:1.000	-	-	150707783	CTC	-	150707781	7	5	52	1	0	1	0	1	0	0	0	0	10583	797	28	0	3146	0	NOS3	7	150707781	In_Frame_Del	DEL	CTC	TCGA-L5-A43J-01A-12D-A247-09	1285859	150707781	8430882	359	12699											
RNF32	140545	genome.wustl.edu	37	chr7	156437370	156437370	+	Frame_Shift_Del	DEL	A	A	-																															caataatagatactggacttAaaaaaactacacagtgcccc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr7:156437370delA	ENST00000405335.1	+	4	602	c.193delA	c.(193-195)aaafs	p.K66fs	RNF32_ENST00000392741.2_Frame_Shift_Del_p.K66fs|RNF32_ENST00000317955.5_Frame_Shift_Del_p.K66fs|RNF32_ENST00000392740.1_Frame_Shift_Del_p.K66fs|RNF32_ENST00000311822.8_Frame_Shift_Del_p.K66fs|RNF32_ENST00000343665.4_Frame_Shift_Del_p.K66fs|RNF32_ENST00000392743.2_Frame_Shift_Del_p.K66fs|RNF32_ENST00000432459.2_Frame_Shift_Del_p.K66fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	66						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACTGGACTTAAAAAAACTAC	0.373																																																	0													68	71	70					7																	156437370		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"RING-type (C3HC4) zinc fingers"	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.193delA	7.37:g.156437370delA	ENSP00000385285:p.Lys66fs		Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING	p.T67fs	ENST00000405335.1	37	c.193	CCDS5944.1	7																																																																																			RNF32	-	NULL	ENSG00000105982		0.373	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF32	HGNC	protein_coding	OTTHUMT00000322660.2		0	16	0	A	NM_030936		156437370	1	tier1		no_errors	ENST00000317955	ensembl	human	known	74_37	frame_shift_del	41.67	7	5	DEL	0.451	-	-	156437370	A	-	156437370	7	5	52	1	0	1	0	1	0	0	0	0	13533	363	13	0	199	0	RNF32	7	156437370	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	5729589	156437370	2701293	360	12700											
DLC1	10395	genome.wustl.edu	37	chr8	12957055	12957055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggctgagtccgaatctcCctcatcagaaaacttctccg	10	9	8	14	2	4	2	2	1	2	1	7	3	5	2	3	1	1	1	3	1	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:12957055C>T	ENST00000276297.4	-	9	3200	c.2791G>A	c.(2791-2793)Gga>Aga	p.G931R	DLC1_ENST00000520226.1_Missense_Mutation_p.G420R|DLC1_ENST00000512044.2_Missense_Mutation_p.G528R|DLC1_ENST00000358919.2_Missense_Mutation_p.G494R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	931					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TCCGAATCTCCCTCATCAGAA	0.567																																																	0													105	95	99					8																	12957055		2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2791G>A	8.37:g.12957055C>T	ENSP00000276297:p.Gly931Arg		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.G931R	ENST00000276297.4	37	c.2791	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074916	0.76415	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.06768	3.51;3.28;3.27;3.26	5.43	5.43	0.79202	.	0.160225	0.56097	D	0.000037	T	0.28366	0.0701	M	0.62723	1.935	0.80722	D	1	D;P;D	0.89917	1.0;0.781;1.0	D;B;D	0.97110	0.994;0.334;1.0	T	0.00144	-1.1994	10	0.38643	T	0.18	.	19.6216	0.95658	0.0:1.0:0.0:0.0	.	931;528;494	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	R	931;494;528;420	ENSP00000276297:G931R;ENSP00000351797:G494R;ENSP00000422595:G528R;ENSP00000428028:G420R	ENSP00000276297:G931R	G	-	1	0	DLC1	13001426	1.000000	0.71417	0.977000	0.42913	0.883000	0.51084	7.815000	0.86186	2.717000	0.92951	0.655000	0.94253	GGA	DLC1	-	NULL	ENSG00000164741		0.567	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	49	0	C	NM_182643, NM_006094		12957055	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	66.67	21	42	SNP	1.000	T	T	12957055	C	T	12957055	3	4	52	1	0	0	0	0	1	0	0	0	4564	632	22	3	1835	3	DLC1	8	12957055	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		12957055	133406967	361	12701											
MTMR7	9108	genome.wustl.edu	37	chr8	17161980	17161980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggattcaggtagtcggcCcgattcttccacaggtgagc	9	9	13	10	2	2	2	1	1	1	1	4	4	3	3	2	4	1	1	2	4	1	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:17161980C>T	ENST00000180173.5	-	12	1435	c.1401G>A	c.(1399-1401)cgG>cgA	p.R467R	MTMR7_ENST00000398099.3_Silent_p.R58R|MTMR7_ENST00000521857.1_Silent_p.R467R	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	467	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GGTAGTCGGCCCGATTCTTCC	0.408																																																	0													166	145	152					8																	17161980		2203	4300	6503	SO:0001819	synonymous_variant	0			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1401G>A	8.37:g.17161980C>T			A1L4K9|B4DG87|Q68DX4	Silent	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.R467	ENST00000180173.5	37	c.1401	CCDS34851.1	8																																																																																			MTMR7	-	NULL	ENSG00000003987		0.408	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR7	HGNC	protein_coding	OTTHUMT00000375311.1	-	0	77	0	C	NM_004686		17161980	-1	tier1	-	no_errors	ENST00000180173	ensembl	human	known	74_37	silent	69.49	18	41	SNP	0.982	T	T	17161980	C	T	17161980	2	4	52	1	0	0	0	0	0	0	0	1	9986	610	22	3		3	MTMR7	8	17161980	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4204925	17161980	129202042	362	12702											
EPB49	2039	genome.wustl.edu	37	chr8	21926552	21926552	+	Frame_Shift_Del	DEL	C	C	-																															gctgtcacccaaatccacatCccccccaccatccccagagg																								rs377647942		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:21926552delC	ENST00000523266.1	+	5	737	c.275delC	c.(274-276)tccfs	p.S92fs	DMTN_ENST00000517600.1_Intron|DMTN_ENST00000358242.3_Frame_Shift_Del_p.S92fs|DMTN_ENST00000523782.2_Frame_Shift_Del_p.S67fs|DMTN_ENST00000381470.3_Frame_Shift_Del_p.S92fs|DMTN_ENST00000265800.5_Frame_Shift_Del_p.S92fs|DMTN_ENST00000443491.2_Frame_Shift_Del_p.S67fs|DMTN_ENST00000415253.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000432128.1_Frame_Shift_Del_p.S92fs|DMTN_ENST00000519907.1_Frame_Shift_Del_p.S92fs	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	92					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										AAATCCACATCCCCCCCACCA	0.602																																																	0													137	117	124					8																	21926552		2203	4300	6503	SO:0001589	frameshift_variant	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.275delC	8.37:g.21926552delC	ENSP00000427866:p.Ser92fs		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Frame_Shift_Del	DEL	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.P94fs	ENST00000523266.1	37	c.275	CCDS6020.1	8																																																																																			DMTN	-	NULL	ENSG00000158856		0.602	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1		0	27	0	C	NM_001978		21926552	1	tier1		no_errors	ENST00000265800	ensembl	human	known	74_37	frame_shift_del	50.00	13	13	DEL	1.000	-	-	21926552	C	-	21926552	7	5	52	1	0	1	0	1	0	0	0	0	5175	855	30	0	289	0	EPB49	8	21926552	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	4764572	21926552	124437470	363	12703											
PIWIL2	55124	genome.wustl.edu	37	chr8	22211817	22211817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcttgcccatcatgtacgGcagggctgtggcattcctac	6	12	10	13	1	2	0	1	0	1	0	3	0	3	0	2	3	3	4	2	3	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:22211817G>A	ENST00000454009.2	+	22	3200	c.2691G>A	c.(2689-2691)cgG>cgA	p.R897R	PIWIL2_ENST00000356766.6_Silent_p.R897R|PIWIL2_ENST00000521356.1_Intron	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	897	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATCATGTACGGCAGGGCTGTG	0.483																																																	0													199	161	174					8																	22211817		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2691G>A	8.37:g.22211817G>A			A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R897	ENST00000454009.2	37	c.2691	CCDS6029.1	8																																																																																			PIWIL2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000197181		0.483	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	-	0	64	0	G			22211817	1	tier1	-	no_errors	ENST00000356766	ensembl	human	known	74_37	silent	68.63	16	35	SNP	0.937	A	A	22211817	G	A	22211817	2	1	52	1	0	0	0	0	0	0	0	1	11997	1190	42	3		3	PIWIL2	8	22211817	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	285265	22211817	124152205	364	12704											
GSR	2936	genome.wustl.edu	37	chr8	30546820	30546820	+	Frame_Shift_Del	DEL	T	T	-																															cttccaagcccgacaaagtcTttttaacctccttgacctat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:30546820delT	ENST00000221130.5	-	9	989	c.899delA	c.(898-900)aagfs	p.K300fs	GSR_ENST00000546342.1_Frame_Shift_Del_p.K271fs|GSR_ENST00000541648.1_Intron|GSR_ENST00000414019.1_Frame_Shift_Del_p.K257fs|GSR_ENST00000537535.1_Intron	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	300					cell redox homeostasis (GO:0045454)|glutathione metabolic process (GO:0006749)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|glutathione-disulfide reductase activity (GO:0004362)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Flavin adenine dinucleotide(DB03147)|Glutathione(DB00143)	CGACAAAGTCTTTTTAACCTC	0.478																																																	0													93	88	90					8																	30546820		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34877.1, CCDS56530.1, CCDS56531.1, CCDS56532.1	8p21.1	2012-10-02			ENSG00000104687	ENSG00000104687	1.8.1.7		4623	protein-coding gene	gene with protein product		138300					Standard	NM_000637		Approved		uc003xih.2	P00390	OTTHUMG00000163946	ENST00000221130.5:c.899delA	8.37:g.30546820delT	ENSP00000221130:p.Lys300fs		C8KIL8|C8KIL9|C8KIM0|D3DSV3|Q7Z5C9|Q9NP63	Frame_Shift_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac	p.K300fs	ENST00000221130.5	37	c.899	CCDS34877.1	8																																																																																			GSR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Glutathione_Rdtase_euk/bac	ENSG00000104687		0.478	GSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSR	HGNC	protein_coding	OTTHUMT00000376519.1		0	31	0	T			30546820	-1	tier1		no_errors	ENST00000221130	ensembl	human	known	74_37	frame_shift_del	66.67	8	16	DEL	1.000	-	-	30546820	T	-	30546820	7	5	52	1	0	1	0	1	0	0	0	0	6855	1609	56	0	689	0	GSR	8	30546820	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	8335003	30546820	115817202	365	12705											
WRN	7486	genome.wustl.edu	37	chr8	30921934	30921934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgttacttgttccaCgtttcttccatgtcaggttg	8	16	8	9	1	2	0	1	0	1	0	4	0	4	0	2	1	2	5	2	1	2	6	rs374898432		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:30921934C>T	ENST00000298139.5	+	4	588	c.339C>T	c.(337-339)caC>caT	p.H113H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	113	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACTTGTTCCACGTTTCTTCCA	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0								C		0,4406		0,0,2203	224	201	209		339	1.6	1	8		209	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WRN	NM_000553.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		113/1433	30921934	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.339C>T	8.37:g.30921934C>T			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.H113	ENST00000298139.5	37	c.339	CCDS6082.1	8																																																																																			WRN	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000165392		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	89	0	C			30921934	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	25.53	70	24	SNP	0.998	T	T	30921934	C	T	30921934	2	4	52	1	0	0	0	0	0	0	0	1	17451	535	19	1		1	WRN	8	30921934	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	375114	30921934	115442088	366	12706											
DUSP26	78986	genome.wustl.edu	37	chr8	33449611	33449611	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggttggggatgatgcctcGgtggtctttgactttcttga	4	15	14	8	2	2	3	0	3	2	0	3	4	2	4	2	5	1	1	2	5	0	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:33449611G>A	ENST00000256261.4	-	4	1073	c.556C>T	c.(556-558)Cga>Tga	p.R186*	DUSP26_ENST00000523956.1_Nonsense_Mutation_p.R186*	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	186	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		ATGATGCCTCGGTGGTCTTTG	0.637																																																	0													102	91	95					8																	33449611		2203	4300	6503	SO:0001587	stop_gained	0			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.556C>T	8.37:g.33449611G>A	ENSP00000256261:p.Arg186*		D3DSV8|Q9BTW0	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.R186*	ENST00000256261.4	37	c.556	CCDS6092.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.510039	0.98843	.	.	ENSG00000133878	ENST00000256261;ENST00000523956	.	.	.	4.8	3.91	0.45181	.	0.190357	0.46145	D	0.000303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2403	12.3135	0.54942	0.0:0.0:0.6939:0.3061	.	.	.	.	X	186	.	ENSP00000256261:R186X	R	-	1	2	DUSP26	33569153	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.128000	0.50492	1.127000	0.42034	0.549000	0.68633	CGA	DUSP26	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000133878		0.637	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	HGNC	protein_coding	OTTHUMT00000376564.1	-	0	43	0	G	NM_024025		33449611	-1	tier1	-	no_errors	ENST00000256261	ensembl	human	known	74_37	nonsense	60.00	22	33	SNP	1.000	A	A	33449611	G	A	33449611	4	1	52	1	0	0	0	0	0	1	0	0	4837	1124	39	1	83	1	DUSP26	8	33449611	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2527677	33449611	112914411	367	12707											
PRKDC	5591	genome.wustl.edu	37	chr8	48805866	48805866	+	Frame_Shift_Del	DEL	C	C	-																															ccgagggctggccacagccaCccccctcaaaggtgttgatg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:48805866delC	ENST00000314191.2	-	31	3736	c.3680delG	c.(3679-3681)ggtfs	p.G1228fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.G1228fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1228					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCCACAGCCACCCCCCTCAAA	0.542								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													31	32	32					8																	48805866		1872	4095	5967	SO:0001589	frameshift_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3680delG	8.37:g.48805866delC	ENSP00000313420:p.Gly1228fs		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G1227fs	ENST00000314191.2	37	c.3680		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.542	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding			0	51	0	C	NM_001081640		48805866	-1	tier1		no_errors	ENST00000314191	ensembl	human	known	74_37	frame_shift_del	19.48	186	45	DEL	0.938	-	-	48805866	C	-	48805866	7	5	52	1	0	1	0	1	0	0	0	0	12563	507	18	0	8929	0	PRKDC	8	48805866	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	15356255	48805866	97558156	368	12708											
ST18	9705	genome.wustl.edu	37	chr8	53055599	53055599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attttctagagagctcactgGgtctttctggaaaacaaaca	13	12	8	8	0	4	1	1	0	3	1	4	3	4	2	0	2	3	1	0	2	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:53055599G>T	ENST00000276480.7	-	17	2742	c.2059C>A	c.(2059-2061)Cca>Aca	p.P687T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	687					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GAGCTCACTGGGTCTTTCTGG	0.393																																																	0													63	63	63					8																	53055599		2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2059C>A	8.37:g.53055599G>T	ENSP00000276480:p.Pro687Thr		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.P687T	ENST00000276480.7	37	c.2059	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473670	0.26423	.	.	ENSG00000147488	ENST00000276480	T	0.64260	-0.09	5.33	2.3	0.28687	Myelin transcription factor 1 (1);	0.777465	0.12601	N	0.454682	T	0.52386	0.1731	L	0.57536	1.79	0.31823	N	0.625746	B	0.06786	0.001	B	0.09377	0.004	T	0.50915	-0.8771	10	0.19147	T	0.46	-1.6151	6.822	0.23862	0.0703:0.127:0.6712:0.1315	.	687	O60284	ST18_HUMAN	T	687	ENSP00000276480:P687T	ENSP00000276480:P687T	P	-	1	0	ST18	53218152	0.588000	0.26799	0.988000	0.46212	0.958000	0.62258	0.226000	0.17776	0.594000	0.29761	0.650000	0.86243	CCA	ST18	-	pfam_Myelin_TF	ENSG00000147488		0.393	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	38	0	G			53055599	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	28.79	94	38	SNP	0.925	T	T	53055599	G	T	53055599	3	4	52	1	0	0	0	0	1	0	0	0	15259	1232	43	3	1124	3	ST18	8	53055599	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4249733	53055599	93308423	369	12709											
EYA1	2138	genome.wustl.edu	37	chr8	72128937	72128938	+	Frame_Shift_Ins	INS	-	-	T																															atcacttgcctccaacattaINStttttgtaggtgttgtagat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:72128937_72128938insT	ENST00000340726.3	-	14	1988_1989	c.1349_1350insA	c.(1348-1350)aatfs	p.N450fs	EYA1_ENST00000303824.7_Frame_Shift_Ins_p.N444fs|EYA1_ENST00000388743.2_Frame_Shift_Ins_p.N449fs|EYA1_ENST00000419131.1_Frame_Shift_Ins_p.N415fs|EYA1_ENST00000388741.2_Frame_Shift_Ins_p.N416fs|EYA1_ENST00000388740.3_Frame_Shift_Ins_p.N417fs|EYA1_ENST00000388742.4_Frame_Shift_Ins_p.N450fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	450					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTCCAACATTATTTTTGTAGGT	0.441																																																	0			GRCh37	CX972739	EYA1	X																																				SO:0001589	frameshift_variant	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1350dupA	8.37:g.72128942_72128942dupT	ENSP00000342626:p.Asn450fs		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Frame_Shift_Ins	INS	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.N450fs	ENST00000340726.3	37	c.1350_1349	CCDS34906.1	8																																																																																			EYA1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000104313		0.441	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2		0	102	0	0	NM_000503, NM_172060		72128938	-1			no_errors	ENST00000340726	ensembl	human	known	74_37	frame_shift_ins	8.64	201	19	INS	0.960:1.000	T	T	72128938	-	T	72128937	7	5	52	1	0	1	1	0	0	0	0	0	5344	446	16	0	448	0	EYA1	8	72128937	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	19073338	72128937	74235085	370	12710											
HNF4G	3174	genome.wustl.edu	37	chr8	76459907	76459907	+	Frame_Shift_Del	DEL	A	A	-																															agtgttttagagcgggaatgAaaaaagaaggtaataataat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:76459907delA	ENST00000354370.1	+	4	502	c.232delA	c.(232-234)aaafs	p.K79fs	HNF4G_ENST00000396423.2_Frame_Shift_Del_p.K116fs			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	79					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGCGGGAATGAAAAAAGAAGG	0.294																																																	0													100	104	102					8																	76459907		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"Nuclear hormone receptors"	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.232delA	8.37:g.76459907delA	ENSP00000346339:p.Lys79fs		Q7Z2V9|Q9UH81|Q9UIS6	Frame_Shift_Del	DEL	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.E117fs	ENST00000354370.1	37	c.343		8																																																																																			HNF4G	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	ENSG00000164749		0.294	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	HNF4G	HGNC	protein_coding	OTTHUMT00000313914.2		0	60	0	A	NM_004133		76459907	1	tier1		no_errors	ENST00000396423	ensembl	human	known	74_37	frame_shift_del	32.22	61	29	DEL	1.000	-	-	76459907	A	-	76459907	7	5	52	1	0	1	0	1	0	0	0	0	7281	247	9	0	353	0	HNF4G	8	76459907	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	4330970	76459907	69904115	371	12711											
RALYL	138046	genome.wustl.edu	37	chr8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgcctccacctccccGtgcagtaattccgctgaagc	6	9	10	16	3	0	1	0	1	0	0	3	1	3	1	6	0	3	3	6	0	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:85774569G>A	ENST00000521268.1	+	6	1557	c.452G>A	c.(451-453)cGt>cAt	p.R151H	RALYL_ENST00000521376.1_Missense_Mutation_p.R62H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000522455.1_Missense_Mutation_p.R151H|RALYL_ENST00000517638.1_Missense_Mutation_p.R164H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498																																																	0													56	56	56					8																	85774569		1903	4127	6030	SO:0001583	missense	0				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.452G>A	8.37:g.85774569G>A	ENSP00000430367:p.Arg151His		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.R151H	ENST00000521268.1	37	c.452	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000863	0.74818	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.23348	2.63;2.63;2.63;2.56;2.62;2.15;1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.75264	2.295	0.43250	D	0.99517	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.899;0.994;0.998;0.993;0.994	T	0.53718	-0.8399	10	0.51188	T	0.08	-3.6618	19.1979	0.93696	0.0:0.0:1.0:0.0	.	140;151;78;164;151	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	151;151;151;140;164;78;62	ENSP00000430394:R151H;ENSP00000428667:R151H;ENSP00000430367:R151H;ENSP00000430065:R140H;ENSP00000430128:R164H;ENSP00000428807:R78H;ENSP00000428310:R62H	ENSP00000430128:R164H	R	+	2	0	RALYL	85937124	1.000000	0.71417	0.646000	0.29493	0.433000	0.31745	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT	RALYL	-	pirsf_hnRNP_C_Raly	ENSG00000184672		0.498	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	-	0	34	0	G			85774569	1	tier1	-	no_errors	ENST00000521268	ensembl	human	known	74_37	missense	34.57	53	28	SNP	0.995	A	A	85774569	G	A	85774569	3	1	52	1	0	0	0	0	1	0	0	0	13065	1145	40	1	513	1	RALYL	8	85774569	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	9314662	85774569	60589453	372	12712											
RUNX1T1	862	genome.wustl.edu	37	chr8	92988144	92988144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcttaccagctttcttcCagatctcctctggcacgtat	8	15	5	13	1	4	1	0	0	4	1	6	1	5	1	3	1	2	3	3	1	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:92988144C>A	ENST00000523629.1	-	10	1791	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.W446L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.W419L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.W409L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.W409L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.W419L|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.W409L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.W457L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	446					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGCTTTCTTCCAGATCTCCTC	0.478																																																	0													131	128	129					8																	92988144		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1337G>T	8.37:g.92988144C>A	ENSP00000428543:p.Trp446Leu		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.W457L	ENST00000523629.1	37	c.1370	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049815	0.75846	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.82517	2.595	0.80722	D	1	P;B;D;B	0.76494	0.672;0.128;0.999;0.167	B;B;D;B	0.87578	0.41;0.091;0.998;0.079	T	0.62296	-0.6884	10	0.02654	T	1	-10.3999	20.4388	0.99107	0.0:1.0:0.0:0.0	.	457;409;446;419	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	L	446;419;446;409;409;409;457;419	ENSP00000428543:W446L;ENSP00000379520:W419L;ENSP00000265814:W446L;ENSP00000353504:W409L;ENSP00000390137:W409L;ENSP00000428742:W409L;ENSP00000402257:W457L;ENSP00000430728:W419L	ENSP00000265814:W446L	W	-	2	0	RUNX1T1	93057320	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.720000	0.84759	2.836000	0.97738	0.655000	0.94253	TGG	RUNX1T1	-	NULL	ENSG00000079102		0.478	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0	27	0	C	NM_004349, NM_175635		92988144	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	72.46	19	50	SNP	1.000	A	A	92988144	C	A	92988144	3	1	52	1	0	0	0	0	1	0	0	0	13792	595	21	3	489	3	RUNX1T1	8	92988144	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	7213575	92988144	53375878	373	12713											
RBM12B	389677	genome.wustl.edu	37	chr8	94746149	94746149	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catctaaaatcttcctcctgGgggctcctgaagtcctcatc	8	12	7	14	0	3	1	1	1	2	0	8	1	7	1	4	2	0	1	4	2	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:94746149G>T	ENST00000399300.2	-	3	2703	c.2490C>A	c.(2488-2490)ccC>ccA	p.P830P	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Silent_p.P710P|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	830							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTTCCTCCTGGGGGCTCCTGA	0.557																																																	0													50	51	51					8																	94746149		1835	4083	5918	SO:0001819	synonymous_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2490C>A	8.37:g.94746149G>T			A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P830	ENST00000399300.2	37	c.2490	CCDS43755.1	8																																																																																			RBM12B	-	NULL	ENSG00000183808		0.557	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	-	0	38	0	G	NM_203390		94746149	-1	tier1	-	no_errors	ENST00000399300	ensembl	human	known	74_37	silent	43.68	49	38	SNP	0.971	T	T	94746149	G	T	94746149	2	4	52	1	0	0	0	0	0	0	0	1	13159	1219	43	3		3	RBM12B	8	94746149	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1758005	94746149	51617873	374	12714											
KCNS2	3788	genome.wustl.edu	37	chr8	99441109	99441109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctgaggctgatgcGgatcttccgcatcttaaagc	8	10	11	12	2	2	2	0	2	2	0	4	3	4	3	3	3	2	2	3	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:99441109G>A	ENST00000287042.4	+	2	1252	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	KCNS2_ENST00000521839.1_Missense_Mutation_p.R301Q	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	301					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGCTGATGCGGATCTTCCGC	0.567																																					Pancreas(138;844 2489 9202 24627)												0													117	108	111					8																	99441109		2203	4300	6503	SO:0001583	missense	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.902G>A	8.37:g.99441109G>A	ENSP00000287042:p.Arg301Gln		A8KAN1	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.R301Q	ENST00000287042.4	37	c.902	CCDS6279.1	8	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728150	0.89390	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.99607	-6.27;-6.27	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	M	0.92691	3.335	0.52099	D	0.999946	D	0.89917	1.0	D	0.81914	0.995	D	0.97702	1.0185	10	0.87932	D	0	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	301	Q9ULS6	KCNS2_HUMAN	Q	301	ENSP00000287042:R301Q;ENSP00000430712:R301Q	ENSP00000287042:R301Q	R	+	2	0	KCNS2	99510285	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	CGG	KCNS2	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000156486		0.567	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1	-	0	28	0	G	NM_020697		99441109	1	tier1	-	no_errors	ENST00000287042	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	A	A	99441109	G	A	99441109	3	1	52	1	0	0	0	0	1	0	0	0	8116	1116	39	1	904	1	KCNS2	8	99441109	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4694960	99441109	46922913	375	12715											
RNF19A	25897	genome.wustl.edu	37	chr8	101277003	101277003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacatccttgccttcatagCgattgtgaatcttgaattaa	13	14	6	8	1	2	2	1	2	1	0	3	3	3	2	2	0	3	0	2	0	5	6	rs138968684	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:101277003C>T	ENST00000519449.1	-	7	1518	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	RNF19A_ENST00000341084.2_Missense_Mutation_p.R401H|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	401					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCTTCATAGCGATTGTGAAT	0.373																																																	0								C	HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	178	160	166		1202,1202	5.2	1	8	dbSNP_134	166	12,8588	8.4+/-32.0	0,12,4288	yes	missense,missense	RNF19A	NM_015435.3,NM_183419.1	29,29	0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076	probably-damaging,probably-damaging	401/839,401/839	101277003	14,12992	2203	4300	6503	SO:0001583	missense	0			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"RING-type (C3HC4) zinc fingers"	13432	protein-coding gene	gene with protein product		607119	"ring finger protein 19", "ring finger protein 19A", "ring finger protein 19A, E3 ubiquitin protein ligase"	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1202G>A	8.37:g.101277003C>T	ENSP00000428968:p.Arg401His		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.R401H	ENST00000519449.1	37	c.1202	CCDS6286.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.090733	0.94149	4.54E-4	0.001395	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84944	-1.92;-1.92	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.87826	0.6275	L	0.51914	1.62	0.80722	D	1	D	0.67145	0.996	P	0.53689	0.732	D	0.88492	0.3076	10	0.56958	D	0.05	.	18.7035	0.91629	0.0:1.0:0.0:0.0	.	401	Q9NV58	RN19A_HUMAN	H	401	ENSP00000428968:R401H;ENSP00000342667:R401H	ENSP00000342667:R401H	R	-	2	0	RNF19A	101346179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.445000	0.80570	2.583000	0.87209	0.650000	0.86243	CGC	RNF19A	-	NULL	ENSG00000034677		0.373	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF19A	HGNC	protein_coding	OTTHUMT00000380004.1	-	0	27	0	C	NM_015435		101277003	-1	tier1	rs138968684	no_errors	ENST00000341084	ensembl	human	known	74_37	missense	26.25	59	21	SNP	1.000	T	T	101277003	C	T	101277003	3	4	52	1	0	0	0	0	1	0	0	0	13515	768	27	1	1334	1	RNF19A	8	101277003	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1835894	101277003	45087019	376	12716											
FZD6	8323	genome.wustl.edu	37	chr8	104343649	104343649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagttcttcagaaccaaGcagcctcaaaggttccacat	12	8	6	15	0	3	1	2	0	1	1	4	1	4	1	5	1	3	3	5	1	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:104343649G>A	ENST00000358755.4	+	7	2350	c.2033G>A	c.(2032-2034)aGc>aAc	p.S678N	FZD6_ENST00000540287.1_Missense_Mutation_p.S373N|FZD6_ENST00000522566.1_Missense_Mutation_p.S678N|FZD6_ENST00000523739.1_Missense_Mutation_p.S646N	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	678					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCAGAACCAAGCAGCCTCAAA	0.438																																																	0													150	145	147					8																	104343649		2203	4300	6503	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.2033G>A	8.37:g.104343649G>A	ENSP00000351605:p.Ser678Asn		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S678N	ENST00000358755.4	37	c.2033	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435411	0.25813	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000540287;ENST00000539487	T;T;T;T	0.76448	-0.99;-0.99;-1.02;-0.94	5.81	0.88	0.19161	.	3.384570	0.00496	N	0.000145	T	0.58509	0.2127	N	0.14661	0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.52749	-0.8534	10	0.02654	T	1	.	5.8935	0.18927	0.2647:0.2291:0.5062:0.0	.	623;373;678	B4E236;F5H831;O60353	.;.;FZD6_HUMAN	N	678;678;646;373;623	ENSP00000429055:S678N;ENSP00000351605:S678N;ENSP00000429528:S646N;ENSP00000443757:S373N	ENSP00000351605:S678N	S	+	2	0	FZD6	104412825	0.752000	0.28338	0.213000	0.23690	0.994000	0.84299	0.896000	0.28377	0.092000	0.17331	-0.145000	0.13849	AGC	FZD6	-	NULL	ENSG00000164930		0.438	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	-	0	65	0	G	NM_003506		104343649	1	tier1	-	no_errors	ENST00000358755	ensembl	human	known	74_37	missense	10.07	134	15	SNP	0.047	A	A	104343649	G	A	104343649	3	1	52	1	0	0	0	0	1	0	0	0	6158	971	34	3	2055	3	FZD6	8	104343649	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3066646	104343649	42020373	377	12717											
CSMD3	114788	genome.wustl.edu	37	chr8	113301669	113301669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggcctaaaagggaacGctttcctgtgcaggaatagt	11	10	12	8	1	0	1	0	1	0	0	1	3	1	3	2	3	2	2	2	3	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:113301669G>A	ENST00000297405.5	-	57	9317	c.9073C>T	c.(9073-9075)Cgt>Tgt	p.R3025C	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2985C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2856C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2955C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3025	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAAGGGAACGCTTTCCTGTG	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													118	106	110					8																	113301669		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9073C>T	8.37:g.113301669G>A	ENSP00000297405:p.Arg3025Cys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R3025C	ENST00000297405.5	37	c.9073	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208066	0.79240	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	6.17	5.3	0.74995	Complement control module (2);Sushi/SCR/CCP (3);	0.080038	0.49916	D	0.000122	T	0.78916	0.4359	M	0.75447	2.3	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.962	T	0.81335	-0.0979	10	0.62326	D	0.03	.	15.4602	0.75349	0.066:0.0:0.934:0.0	.	2856;3025;2985	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2985;3025;2295;2856;2955	ENSP00000345799:R2985C;ENSP00000297405:R3025C;ENSP00000341558:R2295C;ENSP00000412263:R2856C;ENSP00000343124:R2955C	ENSP00000297405:R3025C	R	-	1	0	CSMD3	113370845	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	4.199000	0.58426	1.616000	0.50265	0.655000	0.94253	CGT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.468	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	32	0	G	NM_052900		113301669	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	A	A	113301669	G	A	113301669	3	1	52	1	0	0	0	0	1	0	0	0	3955	1087	38	1	2110	1	CSMD3	8	113301669	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	8958020	113301669	33062353	378	12718											
CSMD3	114788	genome.wustl.edu	37	chr8	113308228	113308228	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagttctggaattccacaAtgacccgctgaaatacgtta	13	11	7	10	2	2	2	1	2	1	0	3	3	3	3	2	1	1	3	2	1	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:113308228A>T	ENST00000297405.5	-	54	8692	c.8448T>A	c.(8446-8448)caT>caA	p.H2816Q	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2776Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2647Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2746Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2816	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATTCCACAATGACCCGCTG	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													70	67	68					8																	113308228		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8448T>A	8.37:g.113308228A>T	ENSP00000297405:p.His2816Gln		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H2816Q	ENST00000297405.5	37	c.8448	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543484	0.45280	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.31	-0.656	0.11436	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.35414	1.06	0.41100	D	0.985663	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.76575	0.988;0.98;0.921	T	0.04115	-1.0976	10	0.16420	T	0.52	.	11.2253	0.48880	0.3623:0.0:0.6377:0.0	.	2647;2816;2776	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	2776;2816;2086;2647;2746	ENSP00000345799:H2776Q;ENSP00000297405:H2816Q;ENSP00000341558:H2086Q;ENSP00000412263:H2647Q;ENSP00000343124:H2746Q	ENSP00000297405:H2816Q	H	-	3	2	CSMD3	113377404	1.000000	0.71417	0.998000	0.56505	0.280000	0.26924	2.896000	0.48656	-0.054000	0.13266	-0.899000	0.02877	CAT	CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	53	0	A	NM_052900		113308228	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	45.79	58	49	SNP	1.000	T	T	113308228	A	T	113308228	3	4	52	1	0	0	0	0	1	0	0	0	3955	98	4	5	2747	5	CSMD3	8	113308228	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	6559	113308228	33055794	379	12719											
CSMD3	114788	genome.wustl.edu	37	chr8	113529438	113529438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccctgggtcacgacaCgcagtggcaacagaacctat	11	5	12	13	2	1	1	1	0	0	1	1	3	1	2	3	3	2	2	3	3	3	1	rs563110439		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:113529438C>T	ENST00000297405.5	-	28	4825	c.4581G>A	c.(4579-4581)gcG>gcA	p.A1527A	CSMD3_ENST00000343508.3_Silent_p.A1487A|CSMD3_ENST00000455883.2_Silent_p.A1423A|CSMD3_ENST00000352409.3_Silent_p.A1527A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1527	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTCACGACACGCAGTGGCAA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													51	46	48					8																	113529438		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4581G>A	8.37:g.113529438C>T			Q96PZ3	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A1527	ENST00000297405.5	37	c.4581	CCDS6315.1	8																																																																																			CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	44	0	C	NM_052900		113529438	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	11.90	111	15	SNP	0.080	T	T	113529438	C	T	113529438	2	4	52	1	0	0	0	0	0	0	0	1	3955	523	19	1		1	CSMD3	8	113529438	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	221210	113529438	32834584	380	12720											
SQLE	6713	genome.wustl.edu	37	chr8	126017779	126017779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttgcagatacagtggaagGtcttgatgcccaggttgtaa	10	12	12	7	0	1	2	0	1	1	1	1	3	1	3	1	3	3	3	1	3	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:126017779G>T	ENST00000265896.5	+	3	1455	c.557G>T	c.(556-558)gGt>gTt	p.G186V	SQLE_ENST00000523430.1_Missense_Mutation_p.G91V	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	186					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	ACAGTGGAAGGTCTTGATGCC	0.398																																																	0													178	182	180					8																	126017779		1916	4131	6047	SO:0001583	missense	0			D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"squalene monooxygenase"	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.557G>T	8.37:g.126017779G>T	ENSP00000265896:p.Gly186Val		Q9UEK6	Missense_Mutation	SNP	pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like	p.G186V	ENST00000265896.5	37	c.557	CCDS47918.1	8	.	.	.	.	.	.	.	.	.	.	G	19.41	3.822225	0.71028	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000521232	T;T;T	0.44482	0.92;0.92;0.92	5.63	2.9	0.33743	.	0.137464	0.64402	D	0.000003	T	0.66499	0.2795	M	0.92367	3.3	0.80722	D	1	D	0.69078	0.997	P	0.61477	0.889	T	0.71013	-0.4715	10	0.66056	D	0.02	-3.0497	10.865	0.46849	0.2031:0.0:0.7969:0.0	.	186	Q14534	ERG1_HUMAN	V	91;186;128	ENSP00000430331:G91V;ENSP00000265896:G186V;ENSP00000428239:G128V	ENSP00000265896:G186V	G	+	2	0	SQLE	126086960	1.000000	0.71417	0.974000	0.42286	0.964000	0.63967	4.022000	0.57203	0.333000	0.23563	0.561000	0.74099	GGT	SQLE	-	pfam_mOase_FAD-bd	ENSG00000104549		0.398	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SQLE	HGNC	protein_coding	OTTHUMT00000381362.1	-	0	39	0	G	NM_003129		126017779	1	tier1	-	no_errors	ENST00000265896	ensembl	human	known	74_37	missense	17.02	117	24	SNP	1.000	T	T	126017779	G	T	126017779	3	4	52	1	0	0	0	0	1	0	0	0	15175	1261	44	3	567	3	SQLE	8	126017779	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	12488341	126017779	20346243	381	12721											
FAM84B	157638	genome.wustl.edu	37	chr8	127569172	127569172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctggctggcgtcagtcaGgaagctgttaatcacctcca	8	9	11	13	1	3	0	3	0	0	0	4	1	4	1	3	3	1	3	3	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:127569172G>T	ENST00000304916.3	-	2	918	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA|FAM84B_ENST00000517458.1_5'Flank|RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	155						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCGTCAGTCAGGAAGCTGTTA	0.642																																																	0													22	21	22					8																	127569172		2198	4293	6491	SO:0001583	missense	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"breast cancer membrane-associated protein 101", "neurological/sensory 2"	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.463C>A	8.37:g.127569172G>T	ENSP00000302578:p.Leu155Met			Missense_Mutation	SNP	pfam_LRAT-like_dom	p.L155M	ENST00000304916.3	37	c.463	CCDS6358.1	8	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936901	0.34189	.	.	ENSG00000168672	ENST00000304916	T	0.08008	3.14	4.59	3.7	0.42460	NC (1);	0.077370	0.53938	D	0.000055	T	0.12305	0.0299	L	0.53249	1.67	0.41652	D	0.989131	P	0.48230	0.907	P	0.48840	0.592	T	0.00923	-1.1513	10	0.62326	D	0.03	-19.5051	7.3965	0.26939	0.088:0.0:0.7497:0.1623	.	155	Q96KN1	FA84B_HUMAN	M	155	ENSP00000302578:L155M	ENSP00000302578:L155M	L	-	1	2	FAM84B	127638354	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	3.973000	0.56845	2.072000	0.62099	0.460000	0.39030	CTG	FAM84B	-	pfam_LRAT-like_dom	ENSG00000168672		0.642	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1		0	15	0	G	NM_174911		127569172	-1			no_errors	ENST00000304916	ensembl	human	known	74_37	missense	12.82	102	15	SNP	1.000	T	T	127569172	G	T	127569172	3	4	52	1	0	0	0	0	1	0	0	0	5664	991	35	3	473	3	FAM84B	8	127569172	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1551393	127569172	18794850	382	12722											
TRAPPC9	83696	genome.wustl.edu	37	chr8	141294067	141294067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccactggtttttattcccgGcaggttatccagcaaacagt	9	12	9	11	1	0	0	0	0	0	0	2	0	2	0	3	3	2	4	3	3	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:141294067G>A	ENST00000438773.2	-	14	2168	c.2035C>T	c.(2035-2037)Ccg>Tcg	p.P679S	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P670S|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.P777S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	679					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTATTCCCGGCAGGTTATCC	0.522																																																	0													128	118	121					8																	141294067		2203	4300	6503	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2035C>T	8.37:g.141294067G>A	ENSP00000405060:p.Pro679Ser		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.P777S	ENST00000438773.2	37	c.2329	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.334|8.334	0.827190|0.827190	0.16749|0.16749	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.371406	.|0.30649	.|N	.|0.009180	T|T	0.23965|0.23965	0.0580|0.0580	N|N	0.08118|0.08118	0|0	0.27117|0.27117	N|N	0.962223|0.962223	.|P;B;B;B	.|0.39352	.|0.669;0.229;0.015;0.383	.|B;B;B;B	.|0.41374	.|0.355;0.111;0.046;0.178	T|T	0.11966|0.11966	-1.0566|-1.0566	5|9	.|0.10111	.|T	.|0.7	.|.	19.5027|19.5027	0.95103|0.95103	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|777;679;670;777	.|A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.|.;TPPC9_HUMAN;.;.	V|S	522|777;670;679	.|.	.|ENSP00000373978:P670S	A|P	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141363249|141363249	0.984000|0.984000	0.35163|0.35163	0.662000|0.662000	0.29724|0.29724	0.061000|0.061000	0.15899|0.15899	1.845000|1.845000	0.39279|0.39279	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	GCC|CCG	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.522	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0	31	0	G	NM_031466		141294067	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	missense	10.98	73	9	SNP	0.787	A	A	141294067	G	A	141294067	3	1	52	1	0	0	0	0	1	0	0	0	16513	1203	42	3	1451	3	TRAPPC9	8	141294067	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	13724895	141294067	5069955	383	12723											
ARC	23237	genome.wustl.edu	37	chr8	143694918	143694918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattctggatctgggacaGccagtactcctcagagccgc	8	9	12	12	1	3	2	1	1	2	1	4	4	4	4	3	2	3	1	3	2	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:143694918G>T	ENST00000356613.2	-	1	1915	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ATCTGGGACAGCCAGTACTCC	0.597																																																	0													32	33	33					8																	143694918		2195	4299	6494	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.715C>A	8.37:g.143694918G>T	ENSP00000349022:p.Leu239Met		B4DFL0|O60937	Missense_Mutation	SNP	prints_Activity-reg_cytoskelet-assoc	p.L239M	ENST00000356613.2	37	c.715	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387076	0.61956	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.77	3.89	0.44902	.	0.000000	0.43579	U	0.000543	T	0.57021	0.2025	N	0.24115	0.695	0.34240	D	0.677473	D	0.71674	0.998	D	0.80764	0.994	T	0.68565	-0.5375	9	0.59425	D	0.04	.	11.8699	0.52515	0.086:0.0:0.914:0.0	.	239	Q7LC44	ARC_HUMAN	M	239	.	ENSP00000349022:L239M	L	-	1	2	ARC	143691920	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.770000	0.62309	0.990000	0.38787	0.462000	0.41574	CTG	ARC	-	NULL	ENSG00000198576		0.597	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	-	0	71	0	G			143694918	-1	tier1	-	no_errors	ENST00000356613	ensembl	human	known	74_37	missense	14.78	196	34	SNP	1.000	T	T	143694918	G	T	143694918	3	4	52	1	0	0	0	0	1	0	0	0	841	962	34	3	479	3	ARC	8	143694918	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2400851	143694918	2669104	384	12724											
ZC3H3	23144	genome.wustl.edu	37	chr8	144621036	144621037	+	Frame_Shift_Ins	INS	-	-	G																															agggctgcagctgtccccgaINSgggggctcaccttcaccttc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:144621036_144621037insG	ENST00000262577.5	-	2	531_532	c.500_501insC	c.(499-501)cctfs	p.P167fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	167					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCTGTCCCCGAGGGGGCTCACC	0.634																																																	0																																										SO:0001589	frameshift_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.501dupC	8.37:g.144621041_144621041dupG	ENSP00000262577:p.Pro167fs		Q14163|Q8N4E2|Q9BUS4	Frame_Shift_Ins	INS	pfam_Znf_CCCH,smart_Znf_CCCH	p.R168fs	ENST00000262577.5	37	c.501_500	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.634	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2		0	41	0	0	NM_015117		144621037	-1			no_errors	ENST00000262577	ensembl	human	known	74_37	frame_shift_ins	11.11	160	20	INS	0.011:0.048	G	G	144621037	-	G	144621036	7	5	52	1	0	1	1	0	0	0	0	0	17617	291	11	0	2389	0	ZC3H3	8	144621036	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	926118	144621036	1742986	385	12725											
EPPK1	83481	genome.wustl.edu	37	chr8	144942928	144942928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgctgaccacctgccgCagggccgcagccctcccaga	7	4	11	19	3	0	2	0	1	0	1	1	2	1	2	6	1	3	3	6	1	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:144942928C>T	ENST00000525985.1	-	2	4565	c.4494G>A	c.(4492-4494)ctG>ctA	p.L1498L				P58107	EPIPL_HUMAN	epiplakin 1	1498						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACCTGCCGCAGGGCCGCAG	0.677																																																	0													17	20	19					8																	144942928		2143	4251	6394	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4494G>A	8.37:g.144942928C>T			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1498	ENST00000525985.1	37	c.4494		8																																																																																			EPPK1	-	NULL	ENSG00000227184		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1		0	12	0	C	NM_031308		144942928	-1			no_errors	ENST00000525985	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.942	T	T	144942928	C	T	144942928	2	4	52	1	0	0	0	0	0	0	0	1	5206	697	25	3		3	EPPK1	8	144942928	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	321892	144942928	1421094	386	12726											
EPPK1	83481	genome.wustl.edu	37	chr8	144947011	144947011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtccacaacctccttcccGatggcctgaaagagggccag	9	7	10	15	1	0	2	0	1	0	1	3	3	3	2	6	2	1	0	6	2	2	1	rs549982161		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:144947011G>A	ENST00000525985.1	-	2	482	c.411C>T	c.(409-411)atC>atT	p.I137I				P58107	EPIPL_HUMAN	epiplakin 1	137						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCTTCCCGATGGCCTGAA	0.682													G|||	1	0.000199681	8e-04	0	5008	,	,		18502	0		0	False		,,,				2504	0																0													22	26	25					8																	144947011		1986	4134	6120	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.411C>T	8.37:g.144947011G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.I137	ENST00000525985.1	37	c.411		8																																																																																			EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.682	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	34	0	G	NM_031308		144947011	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	silent	28.57	118	48	SNP	0.316	A	A	144947011	G	A	144947011	2	1	52	1	0	0	0	0	0	0	0	1	5206	1048	37	1		1	EPPK1	8	144947011	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4083	144947011	1417011	387	12727											
PLEC	5339	genome.wustl.edu	37	chr8	145008493	145008493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccccacccacctctcaaActcgctgcggagctgcttct	6	8	9	18	2	2	0	1	0	2	0	4	1	2	1	4	2	4	3	4	2	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145008493A>G	ENST00000322810.4	-	11	1742	c.1573T>C	c.(1573-1575)Ttt>Ctt	p.F525L	PLEC_ENST00000345136.3_Missense_Mutation_p.F388L|PLEC_ENST00000398774.2_Missense_Mutation_p.F356L|PLEC_ENST00000527096.1_Missense_Mutation_p.F411L|PLEC_ENST00000356346.3_Missense_Mutation_p.F374L|PLEC_ENST00000354589.3_Missense_Mutation_p.F388L|PLEC_ENST00000354958.2_Missense_Mutation_p.F366L|PLEC_ENST00000357649.2_Missense_Mutation_p.F392L|PLEC_ENST00000436759.2_Missense_Mutation_p.F415L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	525	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCTCTCAAACTCGCTGCGG	0.701																																																	0													34	39	37					8																	145008493		2015	4160	6175	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.1573T>C	8.37:g.145008493A>G	ENSP00000323856:p.Phe525Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.F525L	ENST00000322810.4	37	c.1573	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	A	16.02	3.005211	0.54254	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025	T;T;T;T;T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03;0.03	5.41	5.41	0.78517	.	0.000000	0.64402	U	0.000006	T	0.46964	0.1420	L	0.28740	0.885	0.49483	D	0.999794	B;B;B;B;B;B;B;B	0.19583	0.037;0.037;0.037;0.022;0.037;0.037;0.037;0.037	B;B;B;B;B;B;B;B	0.12156	0.007;0.007;0.007;0.003;0.007;0.007;0.007;0.007	T	0.41070	-0.9529	10	0.30078	T	0.28	.	9.0403	0.36314	0.9158:0.0:0.0842:0.0	.	415;374;366;525;356;388;392;388	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	388;392;388;356;525;366;374;415;411;432	ENSP00000344848:F388L;ENSP00000350277:F392L;ENSP00000346602:F388L;ENSP00000381756:F356L;ENSP00000323856:F525L;ENSP00000347044:F366L;ENSP00000348702:F374L;ENSP00000388180:F415L;ENSP00000434583:F411L;ENSP00000437303:F432L	ENSP00000323856:F525L	F	-	1	0	PLEC	145080481	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.175000	0.42491	2.058000	0.61347	0.528000	0.53228	TTT	PLEC	-	NULL	ENSG00000178209		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	40	0	A	NM_000445		145008493	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	31.10	113	51	SNP	1.000	G	G	145008493	A	G	145008493	3	3	52	1	0	0	0	0	1	0	0	0	12091	43	2	4	12569	4	PLEC	8	145008493	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	61482	145008493	1355529	388	12728											
GPAA1	8733	genome.wustl.edu	37	chr8	145138709	145138710	+	Frame_Shift_Del	DEL	CT	CT	-																															accgtgccctgtggctctgaCtctaccaacagccaggctgt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145138709_145138710delCT	ENST00000355091.4	+	4	580_581	c.459_460delCT	c.(457-462)gactctfs	p.S154fs	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Frame_Shift_Del_p.S94fs	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	154					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGGCTCTGACTCTACCAACAG	0.668																																																	0																																										SO:0001589	frameshift_variant	0			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"GPI transamidase subunit"	603048	"anchor attachment protein 1 (Gaa1p, yeast) homolog", "GPAA1P anchor attachment protein 1 homolog (yeast)", "glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.459_460delCT	8.37:g.145138711_145138712delCT	ENSP00000347206:p.Ser154fs		Q9NSS0|Q9UQ31	Frame_Shift_Del	DEL	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	p.S154fs	ENST00000355091.4	37	c.459_460	CCDS43776.1	8																																																																																			GPAA1	-	pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1	ENSG00000197858		0.668	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAA1	HGNC	protein_coding	OTTHUMT00000384070.1		0	29	0	CT	NM_003801		145138710	1	tier1		no_errors	ENST00000355091	ensembl	human	known	74_37	frame_shift_del	26.67	99	36	DEL	0.052:0.022	-	-	145138710	CT	-	145138709	7	5	52	1	0	1	0	1	0	0	0	0	6613	564	20	0	473	0	GPAA1	8	145138709	Frame_Shift_Del	DEL	CT	TCGA-L5-A43J-01A-12D-A247-09	130216	145138709	1225313	389	12729											
HEATR7A	727957	genome.wustl.edu	37	chr8	145267982	145267982	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgcacgtgctgctccGcagcctgctgatctaacggc	5	9	11	16	3	1	1	0	1	1	0	2	1	2	1	3	1	7	5	3	1	1	1	rs373393781		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145267982G>A	ENST00000528919.1	+	12	1262				MROH1_ENST00000527071.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000423230.2_Silent_p.P409P|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000326134.5_Intron	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		GTGCTGCTCCGCAGCCTGCTG	0.557																																																	0								A	,,	0,4284		0,0,2142	91	103	99		1227,1227,	-1.6	0	8		99	2,8480		0,2,4239	no	coding-synonymous,coding-synonymous,intron	HEATR7A	NM_001099280.1,NM_001099281.1,NM_032450.2	,,	0,2,6381	AA,AG,GG		0.0236,0.0,0.0157	,,	409/423,409/423,	145267982	2,12764	2142	4241	6383	SO:0001627	intron_variant	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1142-7521G>A	8.37:g.145267982G>A			C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Silent	SNP	superfamily_ARM-type_fold	p.P409	ENST00000528919.1	37	c.1227	CCDS47938.1	8																																																																																			MROH1	-	NULL	ENSG00000179832		0.557	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MROH1	HGNC	protein_coding	OTTHUMT00000386183.1	-	0	35	0	G	NM_032450		145267982	1	tier1	-	no_errors	ENST00000423230	ensembl	human	known	74_37	silent	9.80	92	10	SNP	0.000	A	A	145267982	G	A	145267982	1	1	52	0	1	0	0	0	0	0	0	0	7061	1074	38	1		1	HEATR7A	8	145267982	Intron	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	129273	145267982	1096040	390	12730											
CPSF1	29894	genome.wustl.edu	37	chr8	145625613	145625613	+	Frame_Shift_Del	DEL	G	G	-																															tgttgagagccacgccatacGgggggacgctctggttcagg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145625613delG	ENST00000349769.3	-	9	978	c.884delC	c.(883-885)ccgfs	p.P295fs	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	295					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACGCCATACGGGGGGACGCT	0.672																																					NSCLC(133;1088 1848 27708 34777 35269)												0													54	41	45					8																	145625613		2202	4300	6502	SO:0001589	frameshift_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.884delC	8.37:g.145625613delG	ENSP00000339353:p.Pro295fs		Q96AF0	Frame_Shift_Del	DEL	pfam_Cleavage/polyA-sp_fac_asu_C	p.P295fs	ENST00000349769.3	37	c.884	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.672	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2		0	23	0	G	NM_013291		145625613	-1	tier1		no_errors	ENST00000349769	ensembl	human	known	74_37	frame_shift_del	10.00	81	9	DEL	1.000	-	-	145625613	G	-	145625613	7	5	52	1	0	1	0	1	0	0	0	0	3831	1116	39	0	3567	0	CPSF1	8	145625613	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	357631	145625613	738409	391	12731											
GPT	2875	genome.wustl.edu	37	chr8	145732306	145732306	+	Frame_Shift_Del	DEL	C	C	-																															ctttcaggatgaccattctgCcccccttggagaaactgcgg																								rs369193887		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145732306delC	ENST00000528431.1	+	12	1571	c.1414delC	c.(1414-1416)cccfs	p.P473fs	GPT_ENST00000394955.2_Frame_Shift_Del_p.P473fs|MFSD3_ENST00000301327.4_5'Flank			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	473					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	GACCATTCTGCCCCCCTTGGA	0.622																																																	0													77	71	73					8																	145732306		2202	4300	6502	SO:0001589	frameshift_variant	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.1414delC	8.37:g.145732306delC	ENSP00000433586:p.Pro473fs		B0YJ18|D3DWM7|P78398|Q93076	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.L474fs	ENST00000528431.1	37	c.1414	CCDS6430.1	8																																																																																			GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.622	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1		0	35	0	C			145732306	1	tier1		no_errors	ENST00000394955	ensembl	human	known	74_37	frame_shift_del	21.14	97	26	DEL	1.000	-	-	145732306	C	-	145732306	7	5	52	1	0	1	0	1	0	0	0	0	6764	739	26	0	1456	0	GPT	8	145732306	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	106693	145732306	631716	392	12732											
ARHGAP39	80728	genome.wustl.edu	37	chr8	145773078	145773078	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctgggcctgtggcagCggcgtgggcggctggctgtg	1	9	19	12	3	0	0	0	0	0	0	2	0	2	0	3	6	1	3	3	6	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr8:145773078C>T	ENST00000276826.5	-	4	1593	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	ARHGAP39_ENST00000540274.1_Silent_p.P464P|ARHGAP39_ENST00000377307.2_Silent_p.P464P|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	464					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CCTGTGGCAGCGGCGTGGGCG	0.687																																																	0													16	18	17					8																	145773078		2188	4286	6474	SO:0001819	synonymous_variant	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1392G>A	8.37:g.145773078C>T			B4E1I1	Silent	SNP	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.P464	ENST00000276826.5	37	c.1392		8																																																																																			ARHGAP39	-	NULL	ENSG00000147799		0.687	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1	-	0	46	0	C			145773078	-1	tier1	-	no_errors	ENST00000377307	ensembl	human	known	74_37	silent	11.54	184	24	SNP	0.055	T	T	145773078	C	T	145773078	2	4	52	1	0	0	0	0	0	0	0	1	884	755	27	1		1	ARHGAP39	8	145773078	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	40772	145773078	590944	393	12733											
JAK2	3717	genome.wustl.edu	37	chr9	5044449	5044449	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcaacagagcctatCggcatggaatatctcgaggt	11	8	13	9	2	1	1	0	0	1	1	3	3	1	2	1	4	3	3	1	4	4	2	rs371826393		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:5044449C>A	ENST00000381652.3	+	5	891	c.397C>A	c.(397-399)Cgg>Agg	p.R133R	JAK2_ENST00000539801.1_Silent_p.R133R|JAK2_ENST00000544510.1_5'UTR	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	133	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	CAGAGCCTATCGGCATGGAAT	0.383		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0													141	131	134					9																	5044449		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"SH2 domain containing"	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.397C>A	9.37:g.5044449C>A			O14636|O75297	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R133	ENST00000381652.3	37	c.397	CCDS6457.1	9																																																																																			JAK2	-	smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,prints_Tyr_kinase_non-rcpt_Jak2	ENSG00000096968		0.383	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	-	0	41	0	C			5044449	1	tier1	-	no_errors	ENST00000381652	ensembl	human	known	74_37	silent	28.57	35	14	SNP	1.000	A	A	5044449	C	A	5044449	2	1	52	1	0	0	0	0	0	0	0	1	7965	875	31	2		2	JAK2	9	5044449	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		5044449	136168982	394	12734											
ELAVL2	1993	genome.wustl.edu	37	chr9	23704941	23704941	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtcgacaagaatacgAgaagtaataatgcgtccata	16	8	9	8	3	0	2	0	0	0	2	2	4	1	2	2	1	2	1	2	1	7	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:23704941A>G	ENST00000397312.2	-	4	736	c.462T>C	c.(460-462)tcT>tcC	p.S154S	ELAVL2_ENST00000544538.1_Silent_p.S154S|ELAVL2_ENST00000380117.1_Silent_p.S154S|ELAVL2_ENST00000223951.6_Silent_p.S154S|ELAVL2_ENST00000380110.4_Silent_p.S183S	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGAATACGAGAAGTAATAA	0.423																																																	0													163	149	154					9																	23704941		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.462T>C	9.37:g.23704941A>G			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S154	ENST00000397312.2	37	c.462	CCDS6515.1	9																																																																																			ELAVL2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	ENSG00000107105		0.423	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0	17	0	A	NM_004432		23704941	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	silent	40.00	14	10	SNP	0.993	G	G	23704941	A	G	23704941	2	3	52	1	0	0	0	0	0	0	0	1	5066	291	11	4		4	ELAVL2	9	23704941	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	18660492	23704941	117508490	395	12735											
UBAP1	51271	genome.wustl.edu	37	chr9	34241819	34241819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaagcaatatcaaatccCtgtctttccccaaacttgac	13	11	4	13	0	2	1	1	1	1	0	4	1	4	1	3	0	2	2	3	0	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:34241819C>A	ENST00000297661.4	+	4	1031	c.796C>A	c.(796-798)Ctg>Atg	p.L266M	UBAP1_ENST00000379186.4_Missense_Mutation_p.L266M|UBAP1_ENST00000540348.1_Missense_Mutation_p.L266M|UBAP1_ENST00000543944.1_Missense_Mutation_p.L302M|UBAP1_ENST00000359544.2_Missense_Mutation_p.L266M|UBAP1_ENST00000545103.1_Missense_Mutation_p.L330M|UBAP1_ENST00000536252.1_Missense_Mutation_p.L266M	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	266					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TATCAAATCCCTGTCTTTCCC	0.488																																					NSCLC(109;1074 1634 14978 20375 39620)												0													93	81	85					9																	34241819		2203	4300	6503	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.796C>A	9.37:g.34241819C>A	ENSP00000297661:p.Leu266Met		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.L330M	ENST00000297661.4	37	c.988	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766262	0.69878	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.69040	-0.32;-0.37;-0.25;-0.25;-0.25;0.25;-0.25	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79254	-0.1879	10	0.41790	T	0.15	-22.846	15.6259	0.76855	0.0:0.9347:0.0:0.0653	.	330;302;330;266	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	M	330;302;266;266;266;266;266	ENSP00000441024:L330M;ENSP00000439806:L302M;ENSP00000440456:L266M;ENSP00000439976:L266M;ENSP00000297661:L266M;ENSP00000368484:L266M;ENSP00000352541:L266M	ENSP00000297661:L266M	L	+	1	2	UBAP1	34231819	0.980000	0.34600	0.999000	0.59377	0.996000	0.88848	2.481000	0.45215	1.634000	0.50500	0.655000	0.94253	CTG	UBAP1	-	NULL	ENSG00000165006		0.488	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1	-	0	41	0	C			34241819	1	tier1	-	no_errors	ENST00000545103	ensembl	human	known	74_37	missense	50.91	27	28	SNP	1.000	A	A	34241819	C	A	34241819	3	1	52	1	0	0	0	0	1	0	0	0	16885	680	24	3	1043	3	UBAP1	9	34241819	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	10536878	34241819	106971612	396	12736											
C9orf131	138724	genome.wustl.edu	37	chr9	35044004	35044005	+	Frame_Shift_Ins	INS	-	-	A																															gaagggcatgcaaagtagagINSaaaatatttgggtccctgca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:35044004_35044005insA	ENST00000312292.5	+	2	1425_1426	c.1378_1379insA	c.(1378-1380)gaafs	p.E460fs	C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.E387fs|C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.E412fs|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	460										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GCAAAGTAGAGAAAATATTTGG	0.55																																																	0																																										SO:0001589	frameshift_variant	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1382dupA	9.37:g.35044008_35044008dupA	ENSP00000308279:p.Glu460fs		A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	NULL	p.N461fs	ENST00000312292.5	37	c.1378_1379	CCDS6572.2	9																																																																																			C9orf131	-	NULL	ENSG00000174038		0.55	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5		0	11	0	-	NM_203299		35044005	1	tier1		no_errors	ENST00000312292	ensembl	human	known	74_37	frame_shift_ins	41.67	14	10	INS	0.083:0.084	A	A	35044005	-	A	35044004	7	5	52	1	0	1	1	0	0	0	0	0	2464	943	33	0	1400	0	C9orf131	9	35044004	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	802185	35044004	106169427	397	12737											
FAM166B	730112	genome.wustl.edu	37	chr9	35562401	35562401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgtagcccccatagttagGtaaaagacccaggttctgag	12	8	10	11	1	1	2	0	1	1	1	1	2	1	2	3	2	1	4	3	2	5	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:35562401G>T	ENST00000399742.2	-	5	785	c.715C>A	c.(715-717)Cct>Act	p.P239T	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	239										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CCATAGTTAGGTAAAAGACCC	0.562																																																	0													26	27	27					9																	35562401		1879	4108	5987	SO:0001583	missense	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.715C>A	9.37:g.35562401G>T	ENSP00000382646:p.Pro239Thr		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.T216N	ENST00000399742.2	37	c.647	CCDS56572.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.782|9.782	1.175654|1.175654	0.21704|0.21704	.|.	.|.	ENSG00000215187|ENSG00000215187	ENST00000399742|ENST00000537504	D|.	0.92249|.	-3.0|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	2586.160000|.	0.00567|.	U|.	0.000298|.	T|.	0.71134|.	0.3304|.	.|.	.|.	.|.	0.47441|0.47441	D|D	0.99942|0.99942	D;B|.	0.89917|.	1.0;0.275|.	D;B|.	0.87578|.	0.998;0.206|.	T|.	0.69105|.	-0.5233|.	9|.	0.52906|.	T|.	0.07|.	-1.2467|-1.2467	15.0012|15.0012	0.71473|0.71473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227;239|.	B7ZW26;A8MTA8|.	.;F166B_HUMAN|.	T|X	239|223	ENSP00000382646:P239T|.	ENSP00000382646:P239T|.	P|Y	-|-	1|3	0|2	FAM166B|FAM166B	35552401|35552401	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.386000|0.386000	0.30323|0.30323	5.026000|5.026000	0.64103|0.64103	2.675000|2.675000	0.91044|0.91044	0.655000|0.655000	0.94253|0.94253	CCT|TAC	FAM166B	-	NULL	ENSG00000215187		0.562	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1		0	61	0	G	NM_001099951		35562401	-1			no_errors	ENST00000447837	ensembl	human	known	74_37	missense	8.39	142	13	SNP	0.976	T	T	35562401	G	T	35562401	3	4	52	1	0	0	0	0	1	0	0	0	5501	1261	44	3	7	3	FAM166B	9	35562401	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	518397	35562401	105651030	398	12738											
CREB3	7094	genome.wustl.edu	37	chr9	35733097	35733097	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgccttgtccaccatgaCcacacctactccctcccacg	7	8	4	22	1	0	1	0	1	0	0	3	1	3	1	8	0	2	0	8	0	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:35733097C>T	ENST00000314888.9	-	0	0				TLN1_ENST00000540444.1_5'Flank|CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.D78D	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCACCATGACCACACCTACT	0.547																																																	0													130	125	127					9																	35733097		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733097C>T	Exception_encountered		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.D78	ENST00000314888.9	37	c.234	CCDS35009.1	9																																																																																			CREB3	-	NULL	ENSG00000107175		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	43	0	C	NM_006289		35733097	1	tier1	-	no_errors	ENST00000353704	ensembl	human	known	74_37	silent	20.00	40	10	SNP	0.980	T	T	35733097	C	T	35733097	1	4	52	0	1	0	0	0	0	0	0	0	3862	506	18	3		3	CREB3	9	35733097	5'Flank	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	170696	35733097	105480334	399	12739											
FBXO10	26267	genome.wustl.edu	37	chr9	37537267	37537267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagttggccagtgccatgGcctccttatccttctgcagc	5	11	11	14	1	1	0	0	0	1	0	3	1	3	1	5	3	3	2	5	3	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:37537267G>A	ENST00000432825.2	-	3	1307	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	420					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CAGTGCCATGGCCTCCTTATC	0.622																																																	0													31	34	33					9																	37537267		2014	4185	6199	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1259C>T	9.37:g.37537267G>A	ENSP00000403802:p.Ala420Val		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.A420V	ENST00000432825.2	37	c.1259	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777458	0.70107	.	.	ENSG00000147912	ENST00000432825	T	0.52295	0.67	5.6	5.6	0.85130	Carbohydrate-binding/sugar hydrolysis domain (1);	0.114215	0.64402	D	0.000015	T	0.46171	0.1379	L	0.44542	1.39	0.80722	D	1	P	0.41420	0.749	P	0.45753	0.492	T	0.34104	-0.9842	10	0.37606	T	0.19	-30.7821	11.8198	0.52232	0.0813:0.0:0.9187:0.0	.	420	Q9UK96	FBX10_HUMAN	V	420	ENSP00000403802:A420V	ENSP00000276960:A420V	A	-	2	0	FBXO10	37527267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.612000	0.82975	2.631000	0.89168	0.655000	0.94253	GCC	FBXO10	-	smart_Carb-bd_sugar_hydrolysis-dom	ENSG00000147912		0.622	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0	8	0	G			37537267	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	A	A	37537267	G	A	37537267	3	1	52	1	0	0	0	0	1	0	0	0	5748	1203	42	3	1647	3	FBXO10	9	37537267	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1804170	37537267	103676164	400	12740											
PGM5	5239	genome.wustl.edu	37	chr9	71094403	71094403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctccattattgctgcccGgaagcagagtgtggaggaaa	10	9	13	9	1	1	1	0	0	1	1	2	4	1	4	2	3	3	3	2	3	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:71094403G>A	ENST00000396396.1	+	8	1458	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	410					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.R410Q(2)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATTGCTGCCCGGAAGCAGAGT	0.532																																																	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)											114	116	115					9																	71094403		2203	4300	6503	SO:0001583	missense	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1229G>A	9.37:g.71094403G>A	ENSP00000379678:p.Arg410Gln		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.R410Q	ENST00000396396.1	37	c.1229	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470453	0.84533	.	.	ENSG00000154330	ENST00000396396	T	0.41400	1.0	5.49	5.49	0.81192	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.057554	0.64402	D	0.000002	T	0.63462	0.2513	M	0.85099	2.735	0.80722	D	1	D	0.71674	0.998	P	0.54815	0.761	T	0.68044	-0.5513	10	0.52906	T	0.07	.	18.4944	0.90860	0.0:0.0:1.0:0.0	.	410	Q15124	PGM5_HUMAN	Q	410	ENSP00000379678:R410Q	ENSP00000379678:R410Q	R	+	2	0	PGM5	70284223	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.539000	0.73856	2.739000	0.93911	0.563000	0.77884	CGG	PGM5	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000154330		0.532	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	-	0	44	0	G	NM_021965		71094403	1	tier1	-	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	78.33	13	47	SNP	1.000	A	A	71094403	G	A	71094403	3	1	52	1	0	0	0	0	1	0	0	0	11840	1116	39	1	1259	1	PGM5	9	71094403	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	33557136	71094403	70119028	401	12741											
FOXB2	442425	genome.wustl.edu	37	chr9	79634851	79634851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcgctgcaccccgactgcgGggacatgttcgagaacggca	8	5	15	13	5	0	1	0	0	0	1	1	4	0	2	2	4	3	4	2	4	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:79634851G>T	ENST00000376708.1	+	1	281	c.281G>T	c.(280-282)gGg>gTg	p.G94V		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	94					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCCGACTGCGGGGACATGTTC	0.642																																																	0													39	43	42					9																	79634851		2203	4300	6503	SO:0001583	missense	0				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.281G>T	9.37:g.79634851G>T	ENSP00000365898:p.Gly94Val			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1	p.G94V	ENST00000376708.1	37	c.281	CCDS35045.1	9	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403179	0.62288	.	.	ENSG00000204612	ENST00000376708	D	0.95377	-3.69	4.47	4.47	0.54385	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96858	0.9630	10	0.54805	T	0.06	.	17.1266	0.86716	0.0:0.0:1.0:0.0	.	94	Q5VYV0	FOXB2_HUMAN	V	94	ENSP00000365898:G94V	ENSP00000365898:G94V	G	+	2	0	FOXB2	78824671	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	5.557000	0.67313	2.034000	0.60081	0.462000	0.41574	GGG	FOXB2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000204612		0.642	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXB2	HGNC	protein_coding	OTTHUMT00000052745.1	-	0	20	0	G	NM_001013735		79634851	1	tier1	-	no_errors	ENST00000376708	ensembl	human	known	74_37	missense	64.10	14	25	SNP	1.000	T	T	79634851	G	T	79634851	3	4	52	1	0	0	0	0	1	0	0	0	6015	1232	43	3	283	3	FOXB2	9	79634851	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	8540448	79634851	61578580	402	12742											
HNRNPK	3190	genome.wustl.edu	37	chr9	86586596	86586596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcttaccatgccgtcGtaacggtctccaggtctccc	8	11	8	14	3	3	0	0	0	3	0	6	0	3	0	4	2	3	2	4	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:86586596G>A	ENST00000376264.2	-	12	1257	c.999C>T	c.(997-999)taC>taT	p.Y333Y	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376263.3_Silent_p.Y333Y|HNRNPK_ENST00000376281.4_Silent_p.Y333Y|HNRNPK_ENST00000351839.3_Silent_p.Y333Y|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000360384.5_Silent_p.Y333Y	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	333	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1. {ECO:0000250}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCATGCCGTCGTAACGGTCTC	0.418																																																	0													206	186	193					9																	86586596		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.999C>T	9.37:g.86586596G>A			Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Silent	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.Y333	ENST00000376264.2	37	c.999	CCDS6667.1	9																																																																																			HNRNPK	-	NULL	ENSG00000165119		0.418	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	-	0	59	0	G			86586596	-1	tier1	-	no_errors	ENST00000376263	ensembl	human	known	74_37	silent	51.79	26	29	SNP	0.647	A	A	86586596	G	A	86586596	2	1	52	1	0	0	0	0	0	0	0	1	7296	1140	40	1		1	HNRNPK	9	86586596	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6951745	86586596	54626835	403	12743											
PTCH1	5727	genome.wustl.edu	37	chr9	98211549	98211549	+	Frame_Shift_Del	DEL	G	G	-																															atggcgaagcggaccacgctGgggggtggctcaggggaggg																								rs138240178	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:98211549delG	ENST00000331920.6	-	22	3905	c.3606delC	c.(3604-3606)cccfs	p.P1202fs	PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P1201fs|PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P1136fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P1136fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1202					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGACCACGCTGGGGGGTGGCT	0.597																																																	3	Deletion - Frameshift(3)	large_intestine(3)											23	28	26					9																	98211549		2188	4275	6463	SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3606delC	9.37:g.98211549delG	ENSP00000332353:p.Pro1202fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.S1203fs	ENST00000331920.6	37	c.3606	CCDS6714.1	9																																																																																			PTCH1	-	tigrfam_TM_rcpt_patched	ENSG00000185920		0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0	44	0	G	NM_000264		98211549	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_del	18.87	43	10	DEL	0.012	-	-	98211549	G	-	98211549	7	5	52	1	0	1	0	1	0	0	0	0	12772	1335	47	0	745	0	PTCH1	9	98211549	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	11624953	98211549	43001882	404	12744											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100085126	100085126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatggagacacctaccacGtggactgcatgatgcggatc	10	7	11	13	2	0	2	0	1	0	1	1	5	0	4	3	3	3	1	3	3	1	1	rs142121305		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:100085126G>A	ENST00000357054.1	+	26	2655	c.1720G>A	c.(1720-1722)Gtg>Atg	p.V574M	CCDC180_ENST00000529487.1_Missense_Mutation_p.V435M|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.V435M|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.V534M|CCDC180_ENST00000411667.2_Missense_Mutation_p.V432M			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	574						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CACCTACCACGTGGACTGCAT	0.517																																																	0								G	MET/VAL	0,4406		0,0,2203	114	92	99		1303	-7.2	0.1	9	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf174	NM_020893.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	435/1702	100085126	1,13005	2203	4300	6503	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1720G>A	9.37:g.100085126G>A	ENSP00000349562:p.Val574Met		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.V435M	ENST00000357054.1	37	c.1303		9	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742355	0.03088	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.08	-7.17	0.01511	.	0.663946	0.15021	N	0.284976	T	0.06508	0.0167	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.28971	0.229;0.015;0.034;0.015	B;B;B;B	0.18263	0.021;0.006;0.006;0.006	T	0.21245	-1.0251	10	0.42905	T	0.14	-0.5828	11.0891	0.48104	0.2285:0.1289:0.6426:0.0	.	432;574;435;574	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	M	574;534;435;432;458;435	ENSP00000349562:V574M;ENSP00000378646:V534M;ENSP00000364348:V435M;ENSP00000414000:V432M;ENSP00000434727:V435M	ENSP00000349562:V574M	V	+	1	0	C9orf174	99124947	0.072000	0.21174	0.104000	0.21259	0.012000	0.07955	-0.999000	0.03697	-1.256000	0.02478	-1.373000	0.01185	GTG	CCDC180	-	NULL	ENSG00000197816		0.517	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0	77	0	G	NM_020893		100085126	1	tier1	rs142121305	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	26.96	84	31	SNP	0.012	A	A	100085126	G	A	100085126	3	1	52	1	0	0	0	0	1	0	0	0	8267	1145	40	1	1778	1	KIAA1529	9	100085126	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1873577	100085126	41128305	405	12745											
ALDOB	229	genome.wustl.edu	37	chr9	104189797	104189797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgtagcgagccagggcGttggcgttttcctggatagc	5	10	16	10	4	0	0	0	0	0	0	1	2	1	1	2	4	3	3	2	4	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:104189797G>A	ENST00000374855.4	-	5	631	c.507C>T	c.(505-507)aaC>aaT	p.N169N	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	169					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GAGCCAGGGCGTTGGCGTTTT	0.527																																																	0													99	77	85					9																	104189797		2203	4300	6503	SO:0001819	synonymous_variant	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.507C>T	9.37:g.104189797G>A			Q13741|Q13742|Q5T7D6	Silent	SNP	pfam_Aldolase_I	p.N169	ENST00000374855.4	37	c.507	CCDS6756.1	9																																																																																			ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.527	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	-	0	25	0	G			104189797	-1	tier1	-	no_errors	ENST00000374855	ensembl	human	known	74_37	silent	26.09	51	18	SNP	0.521	A	A	104189797	G	A	104189797	2	1	52	1	0	0	0	0	0	0	0	1	508	1136	40	1		1	ALDOB	9	104189797	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4104671	104189797	37023634	406	12746											
C9orf6	54942	genome.wustl.edu	37	chr9	111698645	111698645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaagtggaaaaacaatTaaaagcatttcctatcagat	18	11	5	7	0	2	1	2	0	0	1	3	2	3	2	1	1	2	1	1	1	7	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:111698645T>C	ENST00000322940.6	+	3	495	c.189T>C	c.(187-189)atT>atC	p.I63I	IKBKAP_ENST00000537196.1_5'Flank|FAM206A_ENST00000374624.3_Silent_p.I63I|IKBKAP_ENST00000374647.5_5'Flank	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	63						nucleus (GO:0005634)											GAAAAACAATTAAAAGCATTT	0.373																																																	0													120	118	119					9																	111698645		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 6"	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.189T>C	9.37:g.111698645T>C			Q5JTR0|Q5JTR1	Silent	SNP	pfam_GCV_H,superfamily_Single_hybrid_motif	p.I63	ENST00000322940.6	37	c.189	CCDS6774.1	9																																																																																			FAM206A	-	superfamily_Single_hybrid_motif	ENSG00000119328		0.373	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	HGNC	protein_coding	OTTHUMT00000053582.1	-	0	28	0	T	NM_017832		111698645	1	tier1	-	no_errors	ENST00000322940	ensembl	human	known	74_37	silent	24.32	28	9	SNP	1.000	C	C	111698645	T	C	111698645	2	2	52	1	0	0	0	0	0	0	0	1	2495	1742	61	4		4	C9orf6	9	111698645	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	7508848	111698645	29514786	407	12747											
C9orf5	23731	genome.wustl.edu	37	chr9	111849505	111849505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgacaatgggccaaggcGcgagagctccctgccgctcc	7	4	13	17	4	0	1	0	0	0	1	2	3	2	1	5	2	2	2	5	2	2	0	rs565558586		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:111849505G>A	ENST00000374586.3	-	6	1299	c.1268C>T	c.(1267-1269)gCg>gTg	p.A423V		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	423						integral component of membrane (GO:0016021)											GGGCCAAGGCGCGAGAGCTCC	0.438													G|||	1	0.000199681	0	0	5008	,	,		13665	0		0	False		,,,				2504	0.001																0													88	87	87					9																	111849505		1834	4090	5924	SO:0001583	missense	0			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 5"	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1268C>T	9.37:g.111849505G>A	ENSP00000363714:p.Ala423Val		B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	pfam_UPF0118	p.A423V	ENST00000374586.3	37	c.1268	CCDS43858.1	9	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811837	0.32053	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.21932	1.98	5.83	5.83	0.93111	.	0.118144	0.64402	D	0.000012	T	0.32585	0.0834	N	0.24115	0.695	0.45272	D	0.998277	D;P	0.89917	1.0;0.822	D;B	0.80764	0.994;0.084	T	0.03433	-1.1037	10	0.12103	T	0.63	-12.8827	20.1271	0.97986	0.0:0.0:1.0:0.0	.	423;423	Q9H330-2;Q9H330	.;CI005_HUMAN	V	423	ENSP00000363714:A423V	ENSP00000223608:A423V	A	-	2	0	C9orf5	110889326	1.000000	0.71417	0.600000	0.28864	0.772000	0.43724	5.671000	0.68095	2.758000	0.94735	0.563000	0.77884	GCG	TMEM245	-	NULL	ENSG00000106771		0.438	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM245	HGNC	protein_coding	OTTHUMT00000053587.2	-	0	32	0	G	NM_032012		111849505	-1	tier1	-	no_errors	ENST00000374586	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A	A	111849505	G	A	111849505	3	1	52	1	0	0	0	0	1	0	0	0	2493	1087	38	1	1423	1	C9orf5	9	111849505	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	150860	111849505	29363926	408	12748											
SVEP1	79987	genome.wustl.edu	37	chr9	113208246	113208246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagagcatggagagatgggAgcatgccatctagcatgaca	13	8	13	7	0	1	3	0	1	1	2	1	6	1	5	1	2	4	3	1	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:113208246A>G	ENST00000401783.2	-	26	4670	c.4334T>C	c.(4333-4335)cTc>cCc	p.L1445P	SVEP1_ENST00000302728.8_Missense_Mutation_p.L1445P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.L1422P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1445	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGAGATGGGAGCATGCCATC	0.443																																																	0													123	118	120					9																	113208246		1951	4155	6106	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4334T>C	9.37:g.113208246A>G	ENSP00000384917:p.Leu1445Pro		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.L1445P	ENST00000401783.2	37	c.4334	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	14.95	2.688183	0.48097	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.76448	3.2;3.2;-1.02	5.5	4.35	0.52113	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.101413	0.64402	N	0.000005	D	0.88355	0.6414	M	0.88640	2.97	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.972	D	0.88369	0.2993	10	0.46703	T	0.11	.	11.6687	0.51389	0.93:0.0:0.07:0.0	.	1445;1445	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	P	1445;1422;1445	ENSP00000384917:L1445P;ENSP00000363593:L1422P;ENSP00000304118:L1445P	ENSP00000304118:L1445P	L	-	2	0	SVEP1	112248067	1.000000	0.71417	0.090000	0.20809	0.211000	0.24417	8.908000	0.92640	1.020000	0.39573	0.533000	0.62120	CTC	SVEP1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000165124		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0	23	0	A			113208246	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.969	G	G	113208246	A	G	113208246	3	3	52	1	0	0	0	0	1	0	0	0	15467	304	11	4	6473	4	SVEP1	9	113208246	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1358741	113208246	28005185	409	12749											
MUSK	4593	genome.wustl.edu	37	chr9	113457777	113457777	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtaatcccaaaccatcAgtgtcttggataaagggaga	14	9	11	7	0	2	1	1	0	1	1	3	3	3	2	2	3	1	1	2	3	4	3	rs373961420		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:113457777A>G	ENST00000374448.4	+	4	587	c.453A>G	c.(451-453)tcA>tcG	p.S151S	MUSK_ENST00000374439.1_Silent_p.S33S|MUSK_ENST00000189978.5_Silent_p.S151S|MUSK_ENST00000416899.2_Silent_p.S151S|MUSK_ENST00000374440.3_Silent_p.S33S	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	151	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAAACCATCAGTGTCTTGGA	0.338																																																	0								A	,,	0,3646		0,0,1823	50	47	48		453,453,453	-9.3	0.2	9		48	1,8119		0,1,4059	no	coding-synonymous,coding-synonymous,coding-synonymous	MUSK	NM_001166280.1,NM_001166281.1,NM_005592.3	,,	0,1,5882	GG,GA,AA		0.0123,0.0,0.0085	,,	151/784,151/774,151/870	113457777	1,11765	1823	4060	5883	SO:0001819	synonymous_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.453A>G	9.37:g.113457777A>G			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S151	ENST00000374448.4	37	c.453	CCDS48005.1	9																																																																																			MUSK	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000030304		0.338	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		-	0	40	0	A			113457777	1	tier1	-	no_errors	ENST00000374448	ensembl	human	known	74_37	silent	27.27	24	9	SNP	0.476	G	G	113457777	A	G	113457777	2	3	52	1	0	0	0	0	0	0	0	1	10027	175	7	4		4	MUSK	9	113457777	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	249531	113457777	27755654	410	12750											
GOLGA2	2801	genome.wustl.edu	37	chr9	131020798	131020798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggtactgccaccgccTcctcctcctcctcctcctca	4	10	6	21	1	1	1	1	1	0	0	7	1	7	1	9	1	2	2	9	1	1	1	rs201018639|rs112603354	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:131020798T>G	ENST00000421699.2	-	21	2156	c.2144A>C	c.(2143-2145)gAg>gCg	p.E715A	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Missense_Mutation_p.E703A	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	715	Poly-Glu.				mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCCACCGcctcctcctcctc	0.632																																																	0													38	43	41					9																	131020798		2201	4300	6501	SO:0001583	missense	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2144A>C	9.37:g.131020798T>G	ENSP00000416097:p.Glu715Ala		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.E715A	ENST00000421699.2	37	c.2144	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	t	9.585	1.124518	0.20959	.	.	ENSG00000167110	ENST00000421699	D	0.90069	-2.61	3.63	1.17	0.20885	.	1.766590	0.03436	N	0.208507	D	0.87485	0.6189	M	0.86268	2.805	0.09310	N	1	B	0.17268	0.021	B	0.13407	0.009	T	0.58387	-0.7645	10	0.10636	T	0.68	.	2.2501	0.04041	0.1473:0.093:0.1731:0.5865	.	715	Q08379	GOGA2_HUMAN	A	715	ENSP00000416097:E715A	ENSP00000416097:E715A	E	-	2	0	GOLGA2	130060619	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	-1.069000	0.03444	-0.001000	0.14495	-0.339000	0.08088	GAG	GOLGA2	-	NULL	ENSG00000167110		0.632	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2		0	11	0	T	NM_004486		131020798	-1			no_errors	ENST00000421699	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.004	G	G	131020798	T	G	131020798	3	3	52	1	0	0	0	0	1	0	0	0	6578	1551	54	4	888	4	GOLGA2	9	131020798	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	17563021	131020798	10192633	411	12751											
PKN3	29941	genome.wustl.edu	37	chr9	131482844	131482844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccaacaggccgccttcCgggacttcgactttgtgtca	6	9	10	16	4	1	0	1	0	0	0	3	2	2	1	5	2	1	0	5	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:131482844C>T	ENST00000291906.4	+	22	3022	c.2629C>T	c.(2629-2631)Cgg>Tgg	p.R877W	ZDHHC12_ENST00000467312.1_5'Flank	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	877	AGC-kinase C-terminal.				epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGCCGCCTTCCGGGACTTCGA	0.637																																																	0													39	40	40					9																	131482844		2203	4300	6503	SO:0001583	missense	0			AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.2629C>T	9.37:g.131482844C>T	ENSP00000291906:p.Arg877Trp		Q9UM03	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.R877W	ENST00000291906.4	37	c.2629	CCDS6908.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978046	0.74360	.	.	ENSG00000160447	ENST00000291906	T	0.62232	0.04	4.9	4.0	0.46444	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	.	.	.	.	T	0.71787	0.3381	M	0.84511	2.7	0.35254	D	0.778924	D	0.65815	0.995	P	0.54210	0.745	T	0.79361	-0.1835	9	0.87932	D	0	.	6.2472	0.20825	0.1828:0.7213:0.0:0.0959	.	877	Q6P5Z2	PKN3_HUMAN	W	877	ENSP00000291906:R877W	ENSP00000291906:R877W	R	+	1	2	PKN3	130522665	0.988000	0.35896	0.998000	0.56505	0.943000	0.58893	1.931000	0.40134	1.061000	0.40601	0.462000	0.41574	CGG	PKN3	-	pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000160447		0.637	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN3	HGNC	protein_coding	OTTHUMT00000054487.1	-	0	24	0	C	NM_013355		131482844	1	tier1	-	no_errors	ENST00000291906	ensembl	human	known	74_37	missense	69.84	19	44	SNP	0.997	T	T	131482844	C	T	131482844	3	4	52	1	0	0	0	0	1	0	0	0	12020	643	23	1	2715	1	PKN3	9	131482844	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	462046	131482844	9730587	412	12752											
CRAT	1384	genome.wustl.edu	37	chr9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-																															tggttcatgcacagtggcttCccccccaggtactccacggg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)gggfs	p.G165fs	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607																																																	0													196	189	191					9																	131864814		2203	4300	6503	SO:0001589	frameshift_variant	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.495delG	9.37:g.131864814delC	ENSP00000315013:p.Gly165fs		Q5T952|Q9BW16	Frame_Shift_Del	DEL	pfam_Carn_acyl_trans	p.K166fs	ENST00000318080.2	37	c.495	CCDS6919.1	9																																																																																			CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1		0	49	0	C			131864814	-1	tier1		no_errors	ENST00000318080	ensembl	human	known	74_37	frame_shift_del	34.78	60	32	DEL	0.127	-	-	131864814	C	-	131864814	7	5	52	1	0	1	0	1	0	0	0	0	3854	842	30	0	1425	0	CRAT	9	131864814	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	381970	131864814	9348617	413	12753											
BAT2L1	84726	genome.wustl.edu	37	chr9	134350640	134350640	+	Frame_Shift_Del	DEL	C	C	-																															cacgagagtccagcgatgttCcccccatgaagagaaataac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:134350640delC	ENST00000357304.4	+	15	3179	c.3124delC	c.(3124-3126)cccfs	p.P1043fs	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1043							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGCGATGTTCCCCCCATGAA	0.572																																																	0													31	35	34					9																	134350640		1898	4119	6017	SO:0001589	frameshift_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3124delC	9.37:g.134350640delC	ENSP00000349856:p.Pro1043fs		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Del	DEL	pfam_BAT2_N	p.M1044fs	ENST00000357304.4	37	c.3124	CCDS48044.1	9																																																																																			PRRC2B	-	NULL	ENSG00000130723		0.572	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding			0	14	0	C			134350640	1	tier1		no_errors	ENST00000357304	ensembl	human	known	74_37	frame_shift_del	62.50	6	10	DEL	0.992	-	-	134350640	C	-	134350640	7	5	52	1	0	1	0	1	0	0	0	0	1321	855	30	0	3182	0	BAT2L1	9	134350640	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	2485826	134350640	6862791	414	12754											
BAT2L1	84726	genome.wustl.edu	37	chr9	134351550	134351551	+	Frame_Shift_Del	DEL	TG	TG	-																															gtggccaggcaggcccaaacTgtgttctggggacaagagtg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:134351550_134351551delTG	ENST00000357304.4	+	15	4089_4090	c.4034_4035delTG	c.(4033-4035)ctgfs	p.L1345fs	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1345							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGGCCCAAACTGTGTTCTGGGG	0.673											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.4034_4035delTG	9.37:g.134351552_134351553delTG	ENSP00000349856:p.Leu1345fs	1610	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Frame_Shift_Del	DEL	pfam_BAT2_N	p.C1346fs	ENST00000357304.4	37	c.4034_4035	CCDS48044.1	9																																																																																			PRRC2B	-	NULL	ENSG00000130723		0.673	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding			0	19	0	TG			134351551	1	tier1		no_errors	ENST00000357304	ensembl	human	known	74_37	frame_shift_del	12.82	34	5	DEL	0.295:0.237	-	-	134351551	TG	-	134351550	7	5	52	1	0	1	0	1	0	0	0	0	1321	1580	55	0	4092	0	BAT2L1	9	134351550	Frame_Shift_Del	DEL	TG	TCGA-L5-A43J-01A-12D-A247-09	910	134351550	6861881	415	12755											
TTF1	7270	genome.wustl.edu	37	chr9	135277540	135277541	+	Frame_Shift_Ins	INS	-	-	T																															cccggttactggactttttcINSttttttttcttagacttgtt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:135277540_135277541insT	ENST00000334270.2	-	2	707_708	c.668_669insA	c.(667-669)aagfs	p.K223fs		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	223	N-terminal region (NRD). {ECO:0000250}.|Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TGGACTTTTTCTTTTTTTTCTT	0.495																																																	0																																										SO:0001589	frameshift_variant	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.669dupA	9.37:g.135277548_135277548dupT	ENSP00000333920:p.Lys223fs		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Frame_Shift_Ins	INS	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K224fs	ENST00000334270.2	37	c.669_668	CCDS6948.1	9																																																																																			TTF1	-	NULL	ENSG00000125482		0.495	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2		0	23	0	-	NM_007344		135277541	-1	tier1		no_errors	ENST00000334270	ensembl	human	known	74_37	frame_shift_ins	22.03	46	13	INS	0.189:0.184	T	T	135277541	-	T	135277540	7	5	52	1	0	1	1	0	0	0	0	0	16767	912	32	0	2088	0	TTF1	9	135277540	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	925990	135277540	5935891	416	12756	48	2									
TTF1	7270	genome.wustl.edu	37	chr9	135277549	135277549	+	Silent	SNP	C	C	T																															ctggactttttcttttttttCttagacttgtttttatgagc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:135277549C>T	ENST00000334270.2	-	2	699	c.660G>A	c.(658-660)aaG>aaA	p.K220K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	220	N-terminal region (NRD). {ECO:0000250}.|Poly-Lys.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCTTTTTTTTCTTAGACTTGT	0.498																																																	0													41	44	43					9																	135277549		2203	4300	6503	SO:0001819	synonymous_variant	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.660G>A	9.37:g.135277549C>T			A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.K220	ENST00000334270.2	37	c.660	CCDS6948.1	9																																																																																			TTF1	-	NULL	ENSG00000125482		0.498	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2		0	25	0	C	NM_007344		135277549	-1			no_errors	ENST00000334270	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.320	T	T	135277549	C	T	135277549	2	4	52	1	0	0	0	0	0	0	0	1	16767	912	32	3		3	TTF1	9	135277549	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	9	135277549	5935882	417	12757	48	2									
SURF1	6834	genome.wustl.edu	37	chr9	136218825	136218826	+	Frame_Shift_Del	DEL	AG	AG	-																															cacaggtaggatgtagctgcAgagagtccatacctaggggt																								rs377667235		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:136218825_136218826delAG	ENST00000371974.3	-	9	876_877	c.845_846delCT	c.(844-846)tctfs	p.S282fs	SNORD36B_ENST00000363961.1_RNA|SNORD24_ENST00000383884.1_RNA|SURF1_ENST00000495952.1_5'UTR|SNORD36C_ENST00000516733.1_RNA|SNORD36A_ENST00000362874.1_RNA	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	282					aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		ATGTAGCTGCAGAGAGTCCATA	0.54											OREG0019585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CD982969	SURF1	D				14,4250		7,0,2125						5.4	1			71	43,8211		21,1,4105	no	frameshift	SURF1	NM_003172.2		28,1,6230	A1A1,A1R,RR		0.521,0.3283,0.4553				57,12461				SO:0001589	frameshift_variant	0				CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"Mitochondrial respiratory chain complex assembly factors"	11474	protein-coding gene	gene with protein product	"surfeit locus protein 1"	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.845_846delCT	9.37:g.136218829_136218830delAG	ENSP00000361042:p.Ser282fs	1624	Q5T8T3|Q5T8T4	Frame_Shift_Del	DEL	pfam_Surf1/Shy1,pfscan_Surf1/Shy1	p.S282fs	ENST00000371974.3	37	c.846_845	CCDS6966.1	9																																																																																			SURF1	-	pfam_Surf1/Shy1,pfscan_Surf1/Shy1	ENSG00000148290		0.54	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF1	HGNC	protein_coding	OTTHUMT00000054879.1		0	37	0	AG	NM_003172		136218826	-1	tier1		no_errors	ENST00000371974	ensembl	human	known	74_37	frame_shift_del	28.07	41	16	DEL	1.000:1.000	-	-	136218826	AG	-	136218825	7	5	52	1	0	1	0	1	0	0	0	0	15450	175	7	0	60	0	SURF1	9	136218825	Frame_Shift_Del	DEL	AG	TCGA-L5-A43J-01A-12D-A247-09	941276	136218825	4994606	418	12758											
SLC2A6	11182	genome.wustl.edu	37	chr9	136339152	136339152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaggtccatggtgagggcgGcgatcagcacggacaggagc	9	4	18	10	4	1	1	1	1	0	0	2	5	2	3	1	6	2	1	1	6	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:136339152G>A	ENST00000371899.4	-	7	1063	c.986C>T	c.(985-987)gCc>gTc	p.A329V	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Missense_Mutation_p.A329V	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	329					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGTGAGGGCGGCGATCAGCAC	0.687																																																	0													36	31	33					9																	136339152		2197	4299	6496	SO:0001583	missense	0			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"Solute carriers"	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.986C>T	9.37:g.136339152G>A	ENSP00000360966:p.Ala329Val		A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.A329V	ENST00000371899.4	37	c.986	CCDS6975.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.468748	0.96274	.	.	ENSG00000160326	ENST00000371897;ENST00000371899	T;T	0.78481	-1.18;-1.18	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.052327	0.85682	D	0.000000	D	0.88779	0.6529	M	0.83953	2.67	0.58432	D	0.999992	D;D	0.76494	0.998;0.999	D;D	0.71184	0.958;0.972	D	0.89487	0.3754	10	0.54805	T	0.06	.	18.0848	0.89454	0.0:0.0:1.0:0.0	.	329;329	Q9UGQ3-2;Q9UGQ3	.;GTR6_HUMAN	V	329	ENSP00000360964:A329V;ENSP00000360966:A329V	ENSP00000360964:A329V	A	-	2	0	SLC2A6	135328973	1.000000	0.71417	0.774000	0.31636	0.844000	0.47949	9.050000	0.93843	2.532000	0.85374	0.561000	0.74099	GCC	SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000160326		0.687	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	-	0	64	0	G	NM_017585		136339152	-1	tier1	-	no_errors	ENST00000371899	ensembl	human	known	74_37	missense	31.62	93	43	SNP	0.997	A	A	136339152	G	A	136339152	3	1	52	1	0	0	0	0	1	0	0	0	14594	1203	42	3	553	3	SLC2A6	9	136339152	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	120327	136339152	4874279	419	12759											
VAV2	7410	genome.wustl.edu	37	chr9	136726534	136726534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgatgctgtgcagggagagCctcgacaccgcggagatgac	9	5	16	11	4	0	3	0	1	0	2	1	7	0	3	2	2	3	2	2	2	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:136726534C>T	ENST00000371850.3	-	3	373	c.342G>A	c.(340-342)agG>agA	p.R114R	VAV2_ENST00000371851.1_Silent_p.R114R|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000406606.3_Silent_p.R114R	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	114	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GCAGGGAGAGCCTCGACACCG	0.582																																																	0													83	76	78					9																	136726534		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.342G>A	9.37:g.136726534C>T			A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.R114	ENST00000371850.3	37	c.342	CCDS48053.1	9																																																																																			VAV2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000160293		0.582	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	-	0	23	0	C			136726534	-1	tier1	-	no_errors	ENST00000371850	ensembl	human	known	74_37	silent	35.71	18	10	SNP	0.233	T	T	136726534	C	T	136726534	2	4	52	1	0	0	0	0	0	0	0	1	17181	738	26	3		3	VAV2	9	136726534	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	387382	136726534	4486897	420	12760											
COL5A1	1289	genome.wustl.edu	37	chr9	137645711	137645711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagggtccccctgggagcGgaggtttgaagggcgagccg	6	6	18	11	3	0	1	0	1	0	0	1	4	1	3	4	5	2	1	4	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:137645711G>A	ENST00000371817.3	+	15	2149	c.1735G>A	c.(1735-1737)Gga>Aga	p.G579R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	579	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTGGGAGCGGAGGTTTGAA	0.662																																																	0													125	123	124					9																	137645711		2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1735G>A	9.37:g.137645711G>A	ENSP00000360882:p.Gly579Arg		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G579R	ENST00000371817.3	37	c.1735	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347763	0.41599	.	.	ENSG00000130635	ENST00000371817	D	0.92752	-3.1	5.1	5.1	0.69264	.	0.326644	0.29431	U	0.012175	T	0.79793	0.4507	N	0.00760	-1.21	0.36411	D	0.863737	D	0.60575	0.988	P	0.50136	0.632	T	0.82610	-0.0372	10	0.40728	T	0.16	.	6.7514	0.23489	0.0899:0.0:0.7323:0.1778	.	579	P20908	CO5A1_HUMAN	R	579	ENSP00000360882:G579R	ENSP00000360882:G579R	G	+	1	0	COL5A1	136785532	0.320000	0.24616	0.995000	0.50966	0.858000	0.48976	0.653000	0.24902	2.356000	0.79943	0.563000	0.77884	GGA	COL5A1	-	pfam_Collagen	ENSG00000130635		0.662	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	50	0	G	NM_000093		137645711	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.965	A	A	137645711	G	A	137645711	3	1	52	1	0	0	0	0	1	0	0	0	3703	1117	39	1	1793	1	COL5A1	9	137645711	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	919177	137645711	3567720	421	12761											
NOTCH1	4851	genome.wustl.edu	37	chr9	139399786	139399789	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															actggccttccgcacgctggCagtcaaagccgtcgaagagg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CAGT	CAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:139399786_139399789delCAGT	ENST00000277541.6	-	25	4634_4637	c.4559_4562delACTG	c.(4558-4563)gactgcfs	p.DC1520fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1520					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCACGCTGGCAGTCAAAGCCGTC	0.623			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0																																										SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4559_4562delACTG	9.37:g.139399786_139399789delCAGT	ENSP00000277541:p.Asp1520fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.D1520fs	ENST00000277541.6	37	c.4562_4559	CCDS43905.1	9																																																																																			NOTCH1	-	superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom,prints_Notch_dom	ENSG00000148400		0.623	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	18	0	CAGT	NM_017617		139399789	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	44.74	21	17	DEL	1.000:1.000:1.000:1.000	-	-	139399789	CAGT	-	139399786	7	5	52	1	0	1	0	1	0	0	0	0	10586	710	25	0	3145	0	NOTCH1	9	139399786	Frame_Shift_Del	DEL	CAGT	TCGA-L5-A43J-01A-12D-A247-09	1754075	139399786	1813645	422	12762											
NOTCH1	4851	genome.wustl.edu	37	chr9	139401189	139401189	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgaccagcacggcactCgcagtggaagtcattgacgc	9	7	14	11	3	1	2	1	2	0	0	2	3	1	3	1	3	1	3	1	3	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:139401189C>A	ENST00000277541.6	-	23	3955	c.3880G>T	c.(3880-3882)Gag>Tag	p.E1294*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1294	EGF-like 33. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACGGCACTCGCAGTGGAAG	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													23	30	27					9																	139401189		2112	4219	6331	SO:0001587	stop_gained	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3880G>T	9.37:g.139401189C>A	ENSP00000277541:p.Glu1294*		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E1294*	ENST00000277541.6	37	c.3880	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	44	11.198514	0.99529	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.14	5.14	0.70334	.	0.053999	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.6036	0.88032	0.0:1.0:0.0:0.0	.	.	.	.	X	1294	.	ENSP00000277541:E1294X	E	-	1	0	NOTCH1	138521010	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.608000	0.67654	2.397000	0.81536	0.655000	0.94253	GAG	NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.682	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	37	0	C	NM_017617		139401189	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	nonsense	84.71	13	72	SNP	1.000	A	A	139401189	C	A	139401189	4	1	52	1	0	0	0	0	0	1	0	0	10586	893	31	2	3835	2	NOTCH1	9	139401189	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1403	139401189	1812242	423	12763											
PTGDS	5730	genome.wustl.edu	37	chr9	139873716	139873716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgctgctgcagcccgCggggtccctcggctcctaca	6	7	11	17	3	0	0	0	0	0	0	3	0	2	0	4	3	6	4	4	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:139873716C>T	ENST00000371625.3	+	3	370	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RP11-229P13.19_ENST00000413913.2_RNA|PTGDS_ENST00000224167.2_Missense_Mutation_p.A99V|PTGDS_ENST00000460340.1_3'UTR	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	99					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)	p.A99E(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTGCAGCCCGCGGGGTCCCTC	0.687																																																	1	Substitution - Missense(1)	lung(1)											63	71	68					9																	139873716		2203	4299	6502	SO:0001583	missense	0			AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"Lipocalins"	9592	protein-coding gene	gene with protein product	"lipocalin-type prostaglandin D synthase"	176803	"prostaglandin D2 synthase (21kD, brain)"			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.296C>T	9.37:g.139873716C>T	ENSP00000360687:p.Ala99Val		B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth	p.A99V	ENST00000371625.3	37	c.296	CCDS7019.1	9	.	.	.	.	.	.	.	.	.	.	c	14.66	2.602367	0.46423	.	.	ENSG00000107317	ENST00000224167;ENST00000457950;ENST00000371625;ENST00000371623	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	4.81	-2.14	0.07123	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.960401	0.08544	N	0.930045	T	0.06872	0.0175	M	0.65320	2	0.09310	N	1	P	0.37636	0.603	B	0.27608	0.081	T	0.20773	-1.0265	10	0.72032	D	0.01	-9.6379	1.9671	0.03398	0.2482:0.3666:0.2414:0.1438	.	99	P41222	PTGDS_HUMAN	V	99	ENSP00000224167:A99V;ENSP00000392633:A99V;ENSP00000360687:A99V;ENSP00000360685:A99V	ENSP00000224167:A99V	A	+	2	0	PTGDS	138993537	0.000000	0.05858	0.000000	0.03702	0.115000	0.19883	-0.019000	0.12546	-0.866000	0.04068	-1.579000	0.00862	GCG	PTGDS	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000107317		0.687	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDS	HGNC	protein_coding	OTTHUMT00000055188.1	-	0	44	0	C	NM_000954		139873716	1	tier1	-	no_errors	ENST00000224167	ensembl	human	known	74_37	missense	38.95	58	37	SNP	0.000	T	T	139873716	C	T	139873716	3	4	52	1	0	0	0	0	1	0	0	0	12784	768	27	1	306	1	PTGDS	9	139873716	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	472527	139873716	1339715	424	12764											
ZMYND19	116225	genome.wustl.edu	37	chr9	140481423	140481423	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagaagacccacctctGcttgctggaggtctcttcag	7	10	10	14	0	3	2	1	1	2	2	4	4	3	3	3	2	2	2	3	2	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:140481423G>A	ENST00000298585.2	-	4	581	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	ZMYND19_ENST00000471957.1_5'Flank	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	119						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		ACCCACCTCTGCTTGCTGGAG	0.627																																																	0													46	43	44					9																	140481423		2203	4300	6503	SO:0001587	stop_gained	0			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"Zinc fingers, MYND-type"	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.355C>T	9.37:g.140481423G>A	ENSP00000298585:p.Gln119*		Q5T366	Nonsense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.Q119*	ENST00000298585.2	37	c.355	CCDS7048.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.664233	0.96745	.	.	ENSG00000165724	ENST00000298585	.	.	.	4.82	3.92	0.45320	.	0.122017	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	11.506	0.50466	0.0878:0.0:0.9122:0.0	.	.	.	.	X	119	.	ENSP00000298585:Q119X	Q	-	1	0	ZMYND19	139601244	1.000000	0.71417	0.957000	0.39632	0.850000	0.48378	9.444000	0.97578	1.240000	0.43803	0.655000	0.94253	CAG	ZMYND19	-	NULL	ENSG00000165724		0.627	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1	-	0	28	0	G	NM_138462		140481423	-1	tier1	-	no_errors	ENST00000298585	ensembl	human	known	74_37	nonsense	44.23	29	23	SNP	1.000	A	A	140481423	G	A	140481423	4	1	52	1	0	0	0	0	0	1	0	0	17758	1328	46	3	340	3	ZMYND19	9	140481423	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	607707	140481423	732008	425	12765											
CACNA1B	774	genome.wustl.edu	37	chr9	140941361	140941361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttccctcacaggctccGccgcttctgccactacatcg	5	10	7	19	3	2	0	1	0	1	0	5	0	4	0	5	1	3	2	5	1	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr9:140941361G>A	ENST00000371372.1	+	22	3564	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1140H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1141H|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1140H|CACNA1B_ENST00000545473.1_Missense_Mutation_p.R166H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1141H|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R332H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1140					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CACAGGCTCCGCCGCTTCTGC	0.657																																																	0													52	55	54					9																	140941361		2120	4218	6338	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3419G>A	9.37:g.140941361G>A	ENSP00000360423:p.Arg1140His		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R1141H	ENST00000371372.1	37	c.3422	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681340	0.88542	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000545473	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68897	0.3051	M	0.93854	3.465	0.80722	D	1	D;D;D	0.63046	0.992;0.987;0.987	P;P;P	0.55508	0.653;0.777;0.777	T	0.79417	-0.1812	10	0.87932	D	0	.	17.4399	0.87562	0.0:0.0:1.0:0.0	.	1140;1141;1140	B1AQK4;B1AQK7;B1AQK6	.;.;.	H	1140;1140;332;1140;1141;1141;166	ENSP00000360423:R1140H;ENSP00000277551:R1140H;ENSP00000277549:R332H;ENSP00000360414:R1140H;ENSP00000360408:R1141H;ENSP00000360406:R1141H;ENSP00000441232:R166H	ENSP00000277549:R332H	R	+	2	0	CACNA1B	140061182	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	9.632000	0.98428	2.416000	0.81992	0.561000	0.74099	CGC	CACNA1B	-	NULL	ENSG00000148408		0.657	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	-	0	45	0	G	NM_000718		140941361	1	tier1	-	no_errors	ENST00000371355	ensembl	human	known	74_37	missense	20.45	70	18	SNP	1.000	A	A	140941361	G	A	140941361	3	1	52	1	0	0	0	0	1	0	0	0	2546	1087	38	1	3505	1	CACNA1B	9	140941361	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	459938	140941361	272070	426	12766											
USP6NL	9712	genome.wustl.edu	37	chr10	11504795	11504795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtgaccctgaattgcccGaatatcccccagcaccagtg	9	9	9	14	1	0	2	0	2	0	0	1	3	1	2	5	1	2	1	5	1	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:11504795G>A	ENST00000609104.1	-	15	2526	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L	USP6NL_ENST00000379237.2_Missense_Mutation_p.S734L|USP6NL_ENST00000277575.5_Missense_Mutation_p.S728L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	711					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGAATTGCCCGAATATCCCCC	0.473																																																	0													52	52	52					10																	11504795		1880	4115	5995	SO:0001583	missense	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2132C>T	10.37:g.11504795G>A	ENSP00000476462:p.Ser711Leu		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S734L	ENST00000609104.1	37	c.2201	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	6.090	0.384968	0.11524	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04360	3.64;3.65	5.11	3.26	0.37387	.	0.599202	0.14917	N	0.290886	T	0.03263	0.0095	L	0.31664	0.95	0.09310	N	1	B;P	0.44260	0.041;0.83	B;B	0.31495	0.003;0.131	T	0.44513	-0.9323	10	0.39692	T	0.17	.	8.7453	0.34583	0.2315:0.0:0.7685:0.0	.	711;728	Q92738;Q92738-2	US6NL_HUMAN;.	L	711;728;711	ENSP00000277575:S728L;ENSP00000368539:S711L	ENSP00000277575:S728L	S	-	2	0	USP6NL	11544801	0.074000	0.21230	0.060000	0.19600	0.113000	0.19764	1.845000	0.39279	0.574000	0.29417	0.561000	0.74099	TCG	USP6NL	-	NULL	ENSG00000148429		0.473	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	-	0	30	0	G	NM_014688		11504795	-1	tier1	-	no_errors	ENST00000379237	ensembl	human	known	74_37	missense	62.50	9	15	SNP	0.020	A	A	11504795	G	A	11504795	3	1	52	1	0	0	0	0	1	0	0	0	17136	1059	37	1	358	1	USP6NL	10	11504795	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		11504795	124029952	427	12767											
UPF2	26019	genome.wustl.edu	37	chr10	12070974	12070974	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaactaatcactacagaGacatgagtgtgggactcccg	14	7	10	10	1	1	3	1	1	0	2	2	5	2	4	1	1	2	0	1	1	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:12070974G>C	ENST00000356352.2	-	2	1388	c.915C>G	c.(913-915)gtC>gtG	p.V305V	UPF2_ENST00000397053.2_Silent_p.V305V|UPF2_ENST00000357604.5_Silent_p.V305V			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	305	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCACTACAGAGACATGAGTGT	0.378																																																	0													88	85	86					10																	12070974		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.915C>G	10.37:g.12070974G>C			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.V305	ENST00000356352.2	37	c.915	CCDS7086.1	10																																																																																			UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000151461		0.378	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	-	0	20	0	G			12070974	-1	tier1	-	no_errors	ENST00000356352	ensembl	human	known	74_37	silent	57.69	11	15	SNP	0.998	C	C	12070974	G	C	12070974	2	2	52	1	0	0	0	0	0	0	0	1	17053	929	33	5		5	UPF2	10	12070974	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	566179	12070974	123463773	428	12768											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24886394	24886394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctttactgagaagtttccTttccgactcttccttcggag	7	15	7	12	2	1	1	0	1	1	1	5	4	4	2	4	1	1	1	4	1	2	6	rs199641044		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:24886394T>C	ENST00000396432.2	-	16	3802	c.3316A>G	c.(3316-3318)Agg>Ggg	p.R1106G	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R893G	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1105					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGAAGTTTCCTTTCCGACTCT	0.393																																																	0																																										SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3316A>G	10.37:g.24886394T>C	ENSP00000379709:p.Arg1106Gly		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R1106G	ENST00000396432.2	37	c.3316	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860024	0.71834	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003	T;T;T;T	0.54479	2.7;2.83;0.76;0.57	6.17	3.78	0.43462	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.58101	1.795	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.974	T	0.65179	-0.6231	10	0.45353	T	0.12	.	13.3146	0.60399	0.0:0.0:0.2485:0.7515	.	1096;1105	F8W9U9;Q5T5U3	.;RHG21_HUMAN	G	1106;893;1096;1106	ENSP00000379709:R1106G;ENSP00000365604:R893G;ENSP00000365592:R1096G;ENSP00000405018:R1106G	ENSP00000365604:R893G	R	-	1	2	ARHGAP21	24926400	1.000000	0.71417	0.971000	0.41717	0.994000	0.84299	2.905000	0.48727	0.518000	0.28383	0.533000	0.62120	AGG	ARHGAP21	-	NULL	ENSG00000107863		0.393	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	39	0	T	NM_020824		24886394	-1	tier1	rs199641044	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.998	C	C	24886394	T	C	24886394	3	2	52	1	0	0	0	0	1	0	0	0	871	1608	56	4	2604	4	ARHGAP21	10	24886394	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	12815420	24886394	110648353	429	12769											
ANKRD26	22852	genome.wustl.edu	37	chr10	27332391	27332391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttgttcaatgagcaacaTaaaattcttgtaactagagt	16	13	7	5	0	2	2	1	1	1	1	2	2	2	2	0	0	3	4	0	0	7	7	rs370486658		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:27332391T>C	ENST00000376087.4	-	20	2290	c.2125A>G	c.(2125-2127)Atg>Gtg	p.M709V	ANKRD26_ENST00000376070.3_Missense_Mutation_p.M266V|ANKRD26_ENST00000436985.2_Missense_Mutation_p.M725V	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	708					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGAGCAACATAAAATTCTTG	0.358																																																	0													104	98	100					10																	27332391		1851	4090	5941	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.2125A>G	10.37:g.27332391T>C	ENSP00000365255:p.Met709Val		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M725V	ENST00000376087.4	37	c.2173	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	T	8.221	0.802444	0.16397	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.18960	2.18;2.18;2.18	4.07	-5.93	0.02254	.	0.857574	0.09945	N	0.735413	T	0.10208	0.0250	L	0.41824	1.3	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.40776	-0.9545	10	0.15066	T	0.55	.	0.4281	0.00467	0.1911:0.1931:0.2682:0.3476	.	709;708;725	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	V	266;709;725	ENSP00000365238:M266V;ENSP00000365255:M709V;ENSP00000405112:M725V	ENSP00000365238:M266V	M	-	1	0	ANKRD26	27372397	0.000000	0.05858	0.000000	0.03702	0.822000	0.46500	-0.615000	0.05597	-1.352000	0.02194	0.254000	0.18369	ATG	ANKRD26	-	NULL	ENSG00000107890		0.358	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0	32	0	T			27332391	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	75.86	7	22	SNP	0.000	C	C	27332391	T	C	27332391	3	2	52	1	0	0	0	0	1	0	0	0	654	1406	49	4	3067	4	ANKRD26	10	27332391	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2445997	27332391	108202356	430	12770											
SVIL	6840	genome.wustl.edu	37	chr10	29762850	29762852	+	In_Frame_Del	DEL	AGA	AGA	-																															ggtggagtgccggccttgccAgaagaagtagacgcacttct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:29762850_29762852delAGA	ENST00000355867.4	-	30	6196_6198	c.5444_5446delTCT	c.(5443-5448)ttctgg>tgg	p.F1815del	SVIL_ENST00000375400.3_In_Frame_Del_p.F1389del|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_In_Frame_Del_p.F729del|SVIL_ENST00000375398.2_In_Frame_Del_p.F1815del|PTCHD3P1_ENST00000423223.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1815					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGGCCTTGCCAGAAGAAGTAGAC	0.626																																																	0																																										SO:0001651	inframe_deletion	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5444_5446delTCT	10.37:g.29762853_29762855delAGA	ENSP00000348128:p.Phe1815del		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	In_Frame_Del	DEL	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.F1815in_frame_del	ENST00000355867.4	37	c.5446_5444	CCDS7164.1	10																																																																																			SVIL	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000197321		0.626	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1		0	20	0	AGA			29762852	-1	tier1		no_errors	ENST00000355867	ensembl	human	known	74_37	in_frame_del	13.64	19	3	DEL	1.000:1.000:1.000	-	-	29762852	AGA	-	29762850	7	5	52	1	0	1	0	1	0	0	0	0	15468	188	7	0	1234	0	SVIL	10	29762850	In_Frame_Del	DEL	AGA	TCGA-L5-A43J-01A-12D-A247-09	2430459	29762850	105771897	431	12771											
ZEB1	6935	genome.wustl.edu	37	chr10	31810288	31810288	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccccaggacagcacagtAaatctacaaagtcctttgaa	16	7	7	11	0	1	1	0	1	1	0	2	3	2	2	3	1	3	2	3	1	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:31810288A>G	ENST00000320985.10	+	7	2135	c.2025A>G	c.(2023-2025)gtA>gtG	p.V675V	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Silent_p.V659V|ZEB1_ENST00000560721.2_Silent_p.V655V|ZEB1_ENST00000361642.5_Silent_p.V676V|ZEB1_ENST00000542815.3_Silent_p.V608V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	675					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACAGCACAGTAAATCTACAAA	0.448																																					Ovarian(40;423 959 14296 36701 49589)												0													75	67	70					10																	31810288		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2025A>G	10.37:g.31810288A>G			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.V676	ENST00000320985.10	37	c.2028	CCDS7169.1	10																																																																																			ZEB1	-	NULL	ENSG00000148516		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0	18	0	A	NM_030751		31810288	1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	silent	46.67	8	7	SNP	0.000	G	G	31810288	A	G	31810288	2	3	52	1	0	0	0	0	0	0	0	1	17671	349	13	4		4	ZEB1	10	31810288	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2047438	31810288	103724459	432	12772											
CCDC7	79741	genome.wustl.edu	37	chr10	32761449	32761449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtgaaaagttgtgaaGctctggcacagaaaattgaa	17	8	11	5	0	1	4	0	3	1	1	1	4	1	4	0	1	2	4	0	1	7	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:32761449G>T	ENST00000362006.5	+	8	1261	c.718G>T	c.(718-720)Gct>Tct	p.A240S	CCDC7_ENST00000535327.1_3'UTR|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000545067.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.A240S|CCDC7_ENST00000537047.1_Intron	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	240										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAGTTGTGAAGCTCTGGCACA	0.239																																																	0													16	19	18					10																	32761449		2190	4284	6474	SO:0001583	missense	0			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 68"	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.718G>T	10.37:g.32761449G>T	ENSP00000355078:p.Ala240Ser		Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	NULL	p.A240S	ENST00000362006.5	37	c.718	CCDS7173.1	10	.	.	.	.	.	.	.	.	.	.	G	0.206	-1.040698	0.02013	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006	T;T	0.30448	1.53;1.53	3.55	-4.44	0.03557	.	.	.	.	.	T	0.12347	0.0300	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38023	-0.9680	9	0.08179	T	0.78	-11.7997	6.5456	0.22404	0.2403:0.0:0.5884:0.1712	.	240	Q96M83	CCDC7_HUMAN	S	245;240;240	ENSP00000277657:A240S;ENSP00000355078:A240S	ENSP00000277657:A240S	A	+	1	0	CCDC7	32801455	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.686000	0.05161	-0.850000	0.04152	-0.484000	0.04775	GCT	CCDC7	-	NULL	ENSG00000216937		0.239	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	-	0	23	0	G	NM_145023		32761449	1	tier1	-	no_errors	ENST00000277657	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	T	T	32761449	G	T	32761449	3	4	52	1	0	0	0	0	1	0	0	0	2849	971	34	3	744	3	CCDC7	10	32761449	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	951161	32761449	102773298	433	12773											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37433982	37433982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaatattcttgtgattctCgggtattgtgtattattgat	10	19	9	3	1	2	3	0	2	2	1	3	3	2	3	0	1	0	2	0	1	6	9	rs200974283		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:37433982C>T	ENST00000602533.1	+	8	1384	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R429W|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.R429W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	485					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTGTGATTCTCGGGTATTGTG	0.313													.|||	1	0.000199681	0	0	5008	,	,		13529	0.001		0	False		,,,				2504	0																0								C	TRP/ARG	0,3570		0,0,1785	105	102	103		1285	0.1	0.1	10		103	2,8134		0,2,4066	no	missense	ANKRD30A	NM_052997.2	101	0,2,5851	TT,TC,CC		0.0246,0.0,0.0171	probably-damaging	429/1342	37433982	2,11704	1785	4068	5853	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1285C>T	10.37:g.37433982C>T	ENSP00000473551:p.Arg429Trp		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R429W	ENST00000602533.1	37	c.1285		10	.	.	.	.	.	.	.	.	.	.	.	11.76	1.735888	0.30774	0.0	2.46E-4	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.34667	1.42;1.35	1.13	0.096	0.14488	.	.	.	.	.	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	P	0.47134	0.539	T	0.11842	-1.0571	9	0.66056	D	0.02	.	4.977	0.14146	0.0:0.3925:0.6075:0.0	.	485	Q9BXX3	AN30A_HUMAN	W	429	ENSP00000354432:R429W;ENSP00000363792:R429W	ENSP00000354432:R429W	R	+	1	2	ANKRD30A	37473988	1.000000	0.71417	0.055000	0.19348	0.335000	0.28730	0.748000	0.26305	0.050000	0.15949	0.089000	0.15464	CGG	ANKRD30A	-	NULL	ENSG00000148513		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0	37	0	C	NM_052997		37433982	1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.075	T	T	37433982	C	T	37433982	3	4	52	1	0	0	0	0	1	0	0	0	658	875	31	1	1315	1	ANKRD30A	10	37433982	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4672533	37433982	98100765	434	12774											
RBP3	5949	genome.wustl.edu	37	chr10	48390416	48390416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgagattcccccacacGtgggccaccaggaactcccc	9	5	8	19	1	0	1	0	1	0	1	2	3	2	2	7	2	1	0	7	2	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:48390416G>A	ENST00000224600.4	-	1	575	c.462C>T	c.(460-462)caC>caT	p.H154H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	154	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCCCCACACGTGGGCCACCA	0.627																																																	0													66	71	69					10																	48390416		2203	4300	6503	SO:0001819	synonymous_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.462C>T	10.37:g.48390416G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.H154	ENST00000224600.4	37	c.462	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0	21	0	G	NM_002900		48390416	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.000	A	A	48390416	G	A	48390416	2	1	52	1	0	0	0	0	0	0	0	1	13202	1136	40	1		1	RBP3	10	48390416	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	10956434	48390416	87144331	435	12775											
ERCC6	2074	genome.wustl.edu	37	chr10	50740752	50740752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcaagggcctgggCgctaggctctactgcctgga	6	8	14	13	1	2	0	1	0	1	0	2	1	2	1	2	4	4	4	2	4	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:50740752C>T	ENST00000355832.5	-	2	337	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PGBD3_ENST00000603152.1_Missense_Mutation_p.A87T|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.A87T|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.A87T	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	87					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGGCCTGGGCGCTAGGCTCT	0.622								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													123	108	113					10																	50740752		2203	4300	6503	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.259G>A	10.37:g.50740752C>T	ENSP00000348089:p.Ala87Thr		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A87T	ENST00000355832.5	37	c.259	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953639	0.73902	.	.	ENSG00000225830;ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000462247;ENST00000515869;ENST00000447839	D;T;T;T	0.83335	-1.71;0.78;3.25;3.25	5.8	5.8	0.92144	.	.	.	.	.	D	0.83825	0.5338	M	0.65975	2.015	0.80722	D	1	D;P	0.63046	0.992;0.858	P;B	0.48063	0.565;0.181	T	0.81286	-0.1001	9	0.22109	T	0.4	-17.9234	15.5384	0.76021	0.0:0.8627:0.1373:0.0	.	87;87	E7EV46;Q03468	.;ERCC6_HUMAN	T	87	ENSP00000348089:A87T;ENSP00000422827:A87T;ENSP00000423550:A87T;ENSP00000387966:A87T	ENSP00000348089:A87T	A	-	1	0	ERCC6;RP11-123B3.6	50410758	0.997000	0.39634	0.210000	0.23637	0.491000	0.33493	3.593000	0.54001	2.758000	0.94735	0.563000	0.77884	GCC	ERCC6	-	NULL	ENSG00000225830		0.622	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0	54	0	C	NM_000124		50740752	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	missense	39.29	51	33	SNP	0.913	T	T	50740752	C	T	50740752	3	4	52	1	0	0	0	0	1	0	0	0	5233	768	27	1	4302	1	ERCC6	10	50740752	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2350336	50740752	84793995	436	12776											
CSTF2T	23283	genome.wustl.edu	37	chr10	53459077	53459077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccactgaactcccgcccaTtgaggttccgcatggcacta	8	9	8	16	2	0	2	0	2	0	0	3	2	3	2	4	2	1	3	4	2	2	3	rs376475408		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:53459077T>C	ENST00000331173.4	-	1	278	c.233A>G	c.(232-234)aAt>aGt	p.N78S	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	78	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CTCCCGCCCATTGAGGTTCCG	0.547																																																	0								T	,,SER/ASN	0,4406		0,0,2203	111	123	119		,,233	4.8	1	10		119	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,missense	PRKG1,CSTF2T	NM_001098512.2,NM_006258.3,NM_015235.2	,,46	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	,,benign	,,78/617	53459077	2,13004	2203	4300	6503	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.233A>G	10.37:g.53459077T>C	ENSP00000332444:p.Asn78Ser		B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N78S	ENST00000331173.4	37	c.233	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	T	15.76	2.928685	0.52759	0.0	2.33E-4	ENSG00000177613	ENST00000331173	T	0.79653	-1.29	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.78387	0.4275	L	0.45352	1.415	0.80722	D	1	B	0.25272	0.122	B	0.37198	0.243	T	0.78478	-0.2188	10	0.87932	D	0	-8.7855	12.5663	0.56312	0.0:0.0:0.0:1.0	.	78	Q9H0L4	CSTFT_HUMAN	S	78	ENSP00000332444:N78S	ENSP00000332444:N78S	N	-	2	0	CSTF2T	53129083	1.000000	0.71417	0.958000	0.39756	0.973000	0.67179	7.330000	0.79181	2.141000	0.66446	0.402000	0.26972	AAT	CSTF2T	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000177613		0.547	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	HGNC	protein_coding	OTTHUMT00000048097.1	-	0	34	0	T	NM_015235		53459077	-1	tier1	-	no_errors	ENST00000331173	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.999	C	C	53459077	T	C	53459077	3	2	52	1	0	0	0	0	1	0	0	0	3994	1493	52	4	1621	4	CSTF2T	10	53459077	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2718325	53459077	82075670	437	12777											
RHOBTB1	9886	genome.wustl.edu	37	chr10	62647970	62647970	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccccgcggcccactcacCcgagaacgttcccttgctga	6	7	9	19	4	1	2	1	1	0	1	2	3	2	2	5	1	3	2	5	1	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:62647970C>A	ENST00000337910.5	-	6	1793	c.1456G>T	c.(1456-1458)Gac>Tac	p.D486Y	RHOBTB1_ENST00000357917.4_Splice_Site_p.D486Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	486	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCCCACTCACCCGAGAACGTT	0.463																																																	0													66	65	65					10																	62647970		2203	4300	6503	SO:0001630	splice_region_variant	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1456+1G>T	10.37:g.62647970C>A				Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.D486Y	ENST00000337910.5	37	c.1456	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947334	0.73672	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	D;D	0.91464	-2.85;-2.85	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.131761	0.51477	D	0.000083	D	0.96685	0.8918	M	0.94021	3.485	0.80722	D	1	D	0.63046	0.992	D	0.67900	0.954	D	0.97136	0.9821	9	.	.	.	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	486	O94844	RHBT1_HUMAN	Y	486	ENSP00000350595:D486Y;ENSP00000338671:D486Y	.	D	-	1	0	RHOBTB1	62317976	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.767000	0.85331	2.719000	0.93026	0.655000	0.94253	GAC	RHOBTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000072422		0.463	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	-	0	39	0	C		Missense_Mutation	62647970	-1	tier1	-	no_errors	ENST00000337910	ensembl	human	known	74_37	missense	51.16	21	22	SNP	1.000	A	A	62647970	C	A	62647970	5	1	52	1	0	0	0	0	0	0	1	0	13378	637	22	3	658	3	RHOBTB1	10	62647970	Splice_Site	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	9188893	62647970	72886777	438	12778											
RTKN2	219790	genome.wustl.edu	37	chr10	63958149	63958149	+	Frame_Shift_Del	DEL	T	T	-																															ctgcccatttgtctcttcaaTttttttttgtattatatccg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:63958149delT	ENST00000373789.3	-	12	1444	c.1348delA	c.(1348-1350)attfs	p.I450fs	RTKN2_ENST00000395265.1_Frame_Shift_Del_p.I471fs|RTKN2_ENST00000315289.2_Frame_Shift_Del_p.I252fs	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	450					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.I450fs*67(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTCTCTTCAATTTTTTTTTGT	0.333																																																	1	Deletion - Frameshift(1)	lung(1)											60	64	63					10																	63958149		2202	4299	6501	SO:0001589	frameshift_variant	0			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1348delA	10.37:g.63958149delT	ENSP00000362894:p.Ile450fs		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I450fs	ENST00000373789.3	37	c.1348	CCDS7263.1	10																																																																																			RTKN2	-	NULL	ENSG00000182010		0.333	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1		0	43	0	T	NM_145307		63958149	-1	tier1		no_errors	ENST00000373789	ensembl	human	known	74_37	frame_shift_del	41.46	24	17	DEL	1.000	-	-	63958149	T	-	63958149	7	5	52	1	0	1	0	1	0	0	0	0	13768	1493	52	0	485	0	RTKN2	10	63958149	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	1310179	63958149	71576598	439	12779											
USP54	159195	genome.wustl.edu	37	chr10	75277223	75277225	+	In_Frame_Del	DEL	ATG	ATG	-																															gcatccaatggctcccaactAtgatgagaattcttctcagt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:75277223_75277225delATG	ENST00000339859.4	-	19	3059_3061	c.2959_2961delCAT	c.(2959-2961)catdel	p.H987del	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_In_Frame_Del_p.H837del|USP54_ENST00000408019.1_In_Frame_Del_p.H987del|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_In_Frame_Del_p.H169del|USP54_ENST00000394811.2_In_Frame_Del_p.H75del			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	987					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCTCCCAACTATGATGAGAATTC	0.502																																					Colon(195;880 2046 8854 25025 38456)												0																																										SO:0001651	inframe_deletion	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2959_2961delCAT	10.37:g.75277226_75277228delATG	ENSP00000345216:p.His987del		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	In_Frame_Del	DEL	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.H987in_frame_del	ENST00000339859.4	37	c.2961_2959	CCDS7329.2	10																																																																																			USP54	-	NULL	ENSG00000166348		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2		0	48	0	ATG	NM_152586		75277225	-1	tier1		no_errors	ENST00000339859	ensembl	human	known	74_37	in_frame_del	16.46	66	13	DEL	0.001:0.002:0.000	-	-	75277225	ATG	-	75277223	7	5	52	1	0	1	0	1	0	0	0	0	17134	446	16	0	2113	0	USP54	10	75277223	In_Frame_Del	DEL	ATG	TCGA-L5-A43J-01A-12D-A247-09	11319074	75277223	60257524	440	12780											
MYST4	23522	genome.wustl.edu	37	chr10	76780447	76780447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagagcgtcatcttggagTatctctaccaccaccatgag	11	9	10	11	1	3	2	1	1	2	1	4	4	3	4	3	2	2	1	3	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:76780447T>C	ENST00000287239.4	+	14	3226	c.2737T>C	c.(2737-2739)Tat>Cat	p.Y913H	KAT6B_ENST00000372711.1_Missense_Mutation_p.Y730H|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y621H|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y621H|RP11-77G23.5_ENST00000436608.1_RNA|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.Y621H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	913	Catalytic.|Interaction with BRPF1.|MYST-type HAT.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CATCTTGGAGTATCTCTACCA	0.542																																																	0													112	94	100					10																	76780447		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2737T>C	10.37:g.76780447T>C	ENSP00000287239:p.Tyr913His		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Y913H	ENST00000287239.4	37	c.2737	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	T	14.14	2.447709	0.43429	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79033	-1.21;-1.21;-1.23;-1.21;-1.21	5.88	5.88	0.94601	.	0.000000	0.41294	D	0.000918	D	0.87759	0.6258	M	0.78049	2.395	0.58432	D	0.999993	P;P;D	0.76494	0.909;0.552;0.999	P;B;D	0.83275	0.554;0.189;0.996	D	0.86604	0.1868	10	0.33141	T	0.24	-9.8421	16.2815	0.82692	0.0:0.0:0.0:1.0	.	730;621;913	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	H	621;621;913;621;730	ENSP00000361810:Y621H;ENSP00000361809:Y621H;ENSP00000287239:Y913H;ENSP00000361799:Y621H;ENSP00000361796:Y730H	ENSP00000287239:Y913H	Y	+	1	0	KAT6B	76450453	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.613000	0.61176	2.246000	0.74042	0.533000	0.62120	TAT	KAT6B	-	pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase	ENSG00000156650		0.542	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	-	0	11	0	T	NM_012330		76780447	1	tier1	-	no_errors	ENST00000287239	ensembl	human	known	74_37	missense	68.29	13	28	SNP	1.000	C	C	76780447	T	C	76780447	3	2	52	1	0	0	0	0	1	0	0	0	10143	1638	57	4	2783	4	MYST4	10	76780447	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1503224	76780447	58754300	441	12781											
DUPD1	338599	genome.wustl.edu	37	chr10	76803696	76803696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcgggcccagtgtccaCgttccagcggccgtgggccg	4	7	16	14	5	0	0	0	0	0	0	3	0	2	0	5	3	1	2	5	3	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:76803696C>T	ENST00000338487.5	-	2	279	c.280G>A	c.(280-282)Gtg>Atg	p.V94M		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	94	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCAGTGTCCACGTTCCAGCGG	0.657																																																	0													76	72	73					10																	76803696		2203	4300	6503	SO:0001583	missense	0				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.280G>A	10.37:g.76803696C>T	ENSP00000340609:p.Val94Met		B2RP93	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP	p.V94M	ENST00000338487.5	37	c.280	CCDS31223.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688846	0.88639	.	.	ENSG00000188716	ENST00000338487	T	0.61392	0.11	4.83	4.83	0.62350	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.77136	0.4086	M	0.79614	2.46	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	T	0.81187	-0.1047	10	0.87932	D	0	-29.5424	17.9113	0.88934	0.0:1.0:0.0:0.0	.	94	Q68J44	DUPD1_HUMAN	M	94	ENSP00000340609:V94M	ENSP00000340609:V94M	V	-	1	0	DUPD1	76473702	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.706000	0.68362	2.204000	0.70986	0.650000	0.86243	GTG	DUPD1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000188716		0.657	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUPD1	HGNC	protein_coding	OTTHUMT00000048777.2	-	0	28	0	C	XM_291741		76803696	-1	tier1	-	no_errors	ENST00000338487	ensembl	human	known	74_37	missense	19.44	58	14	SNP	1.000	T	T	76803696	C	T	76803696	3	4	52	1	0	0	0	0	1	0	0	0	4818	536	19	1	390	1	DUPD1	10	76803696	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	23249	76803696	58731051	442	12782											
KCNMA1	3778	genome.wustl.edu	37	chr10	78870005	78870005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaacatccccataaccaaCggtggacattgtgaccatga	15	8	7	11	1	0	2	0	2	0	0	1	3	1	3	4	2	3	0	4	2	4	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:78870005C>T	ENST00000286628.8	-	8	1056	c.1057G>A	c.(1057-1059)Gtt>Att	p.V353I	KCNMA1_ENST00000354353.5_Missense_Mutation_p.V353I|KCNMA1_ENST00000286627.5_Missense_Mutation_p.V353I|KCNMA1_ENST00000404857.1_Missense_Mutation_p.V353I|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V353I|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V353I|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V353I|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V353I	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	353					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.V353F(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CCATAACCAACGGTGGACATT	0.438																																																	2	Substitution - Missense(2)	endometrium(2)											226	222	223					10																	78870005		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1057G>A	10.37:g.78870005C>T	ENSP00000286628:p.Val353Ile		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.V353I	ENST00000286628.8	37	c.1057		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.024791|5.024791	0.93518|0.93518	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.97575	.|-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97626|0.97626	0.9222|0.9222	L|L	0.39692|0.39692	1.235|1.235	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.996;1.0;0.996;0.999;1.0;1.0;0.995	D|D	0.98863|0.98863	1.0763|1.0763	5|10	.|0.87932	.|D	.|0	-11.3747|-11.3747	19.3186|19.3186	0.94226|0.94226	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|353;353;353;353;353;135;353	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	H|I	341;31|353;290;288;327;290;353;353;327;353;353;353;135	.|ENSP00000361517:V353I;ENSP00000361485:V290I;ENSP00000361514:V288I;ENSP00000396608:V327I;ENSP00000361520:V353I;ENSP00000286627:V353I;ENSP00000385552:V353I;ENSP00000346321:V353I;ENSP00000385806:V353I	.|ENSP00000286627:V353I	R|V	-|-	2|1	0|0	KCNMA1|KCNMA1	78540011|78540011	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.875000|0.875000	0.50365|0.50365	7.811000|7.811000	0.86092|0.86092	2.567000|2.567000	0.86603|0.86603	0.643000|0.643000	0.83706|0.83706	CGT|GTT	KCNMA1	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000156113		0.438	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	60	0	C	NM_002247		78870005	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	25.40	47	16	SNP	1.000	T	T	78870005	C	T	78870005	3	4	52	1	0	0	0	0	1	0	0	0	8100	536	19	1	2909	1	KCNMA1	10	78870005	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2066309	78870005	56664742	443	12783											
DLG5	9231	genome.wustl.edu	37	chr10	79579660	79579660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgactcacccacagaCggcctgctagggtatagcgg	8	7	13	13	2	1	2	1	1	0	1	1	2	1	2	2	4	2	3	2	4	3	3	rs374398523		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:79579660C>T	ENST00000372391.2	-	16	3524	c.3519G>A	c.(3517-3519)ccG>ccA	p.P1173P	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.P833P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1173					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CACCCACAGACGGCCTGCTAG	0.647																																																	0								C		3,4403		0,3,2200	70	79	76		3519	-11.5	0.1	10		76	0,8596		0,0,4298	no	coding-synonymous	DLG5	NM_004747.3		0,3,6498	TT,TC,CC		0.0,0.0681,0.0231		1173/1920	79579660	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"discs, large (Drosophila) homolog 5"			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.3519G>A	10.37:g.79579660C>T			A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P1173	ENST00000372391.2	37	c.3519	CCDS7353.2	10																																																																																			DLG5	-	NULL	ENSG00000151208		0.647	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	-	0	37	0	C			79579660	-1	tier1	-	no_errors	ENST00000372391	ensembl	human	known	74_37	silent	14.63	35	6	SNP	0.069	T	T	79579660	C	T	79579660	2	4	52	1	0	0	0	0	0	0	0	1	4572	523	19	1		1	DLG5	10	79579660	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	709655	79579660	55955087	444	12784											
IFIT5	24138	genome.wustl.edu	37	chr10	91177806	91177806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgacaccaacttcttctTtcctgcatcaccagatggga	10	11	8	12	0	3	2	1	1	2	1	4	3	4	3	3	2	2	1	3	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:91177806T>C	ENST00000371795.4	+	2	1063	c.850T>C	c.(850-852)Ttc>Ctc	p.F284L	IFIT5_ENST00000416601.1_Missense_Mutation_p.F236L	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	284					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AACTTCTTCTTTCCTGCATCA	0.428																																																	0													81	85	84					10																	91177806		2202	4300	6502	SO:0001583	missense	0			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.850T>C	10.37:g.91177806T>C	ENSP00000360860:p.Phe284Leu		B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F284L	ENST00000371795.4	37	c.850	CCDS7403.1	10	.	.	.	.	.	.	.	.	.	.	T	17.88	3.497201	0.64186	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.52526	0.66;0.66	5.79	5.79	0.91817	Tetratricopeptide-like helical (1);	0.157727	0.56097	D	0.000023	T	0.49150	0.1540	L	0.54965	1.715	0.35318	D	0.784482	D;D	0.58620	0.983;0.983	P;P	0.51016	0.656;0.656	T	0.54662	-0.8260	10	0.09843	T	0.71	-10.8313	12.4685	0.55773	0.0:0.0:0.1392:0.8608	.	284;236	Q13325;B4DDV1	IFIT5_HUMAN;.	L	284;236	ENSP00000360860:F284L;ENSP00000414042:F236L	ENSP00000360860:F284L	F	+	1	0	IFIT5	91167786	0.932000	0.31603	1.000000	0.80357	0.994000	0.84299	1.726000	0.38085	2.218000	0.71995	0.533000	0.62120	TTC	IFIT5	-	NULL	ENSG00000152778		0.428	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	HGNC	protein_coding	OTTHUMT00000049303.1	-	0	21	0	T	NM_012420		91177806	1	tier1	-	no_errors	ENST00000371795	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	C	C	91177806	T	C	91177806	3	2	52	1	0	0	0	0	1	0	0	0	7552	1841	64	4	856	4	IFIT5	10	91177806	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	11598146	91177806	44356941	445	12785											
KIF20B	9585	genome.wustl.edu	37	chr10	91518600	91518600	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagaaagataatgaaatTgaacaactaaaaaggatcat	22	8	7	4	0	1	4	1	2	0	2	1	5	1	5	0	1	3	1	0	1	9	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:91518600T>G	ENST00000371728.3	+	27	4706	c.4641T>G	c.(4639-4641)atT>atG	p.I1547M	KIF20B_ENST00000394289.2_Missense_Mutation_p.I1547M|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000416354.1_Missense_Mutation_p.I1577M|KIF20B_ENST00000260753.4_Missense_Mutation_p.I1507M	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1547					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATAATGAAATTGAACAACTAA	0.323																																																	0													61	60	61					10																	91518600		2202	4299	6501	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.4641T>G	10.37:g.91518600T>G	ENSP00000360793:p.Ile1547Met		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1577M	ENST00000371728.3	37	c.4731		10	.	.	.	.	.	.	.	.	.	.	T	16.45	3.125470	0.56721	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.91	-0.246	0.13022	.	0.259107	0.27340	N	0.019802	T	0.66247	0.2770	M	0.68952	2.095	0.33796	D	0.626075	D;D	0.89917	1.0;1.0	D;D	0.72338	0.95;0.977	T	0.69661	-0.5085	10	0.72032	D	0.01	-7.8242	5.686	0.17803	0.1542:0.3721:0.0:0.4738	.	1547;1507	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	M	1507;1577;1547;1547	ENSP00000260753:I1507M;ENSP00000411545:I1577M;ENSP00000377830:I1547M;ENSP00000360793:I1547M	ENSP00000260753:I1507M	I	+	3	3	KIF20B	91508580	0.997000	0.39634	0.098000	0.21074	0.956000	0.61745	0.315000	0.19451	-0.058000	0.13177	0.533000	0.62120	ATT	KIF20B	-	NULL	ENSG00000138182		0.323	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	28	0	T	NM_016195		91518600	1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.320	G	G	91518600	T	G	91518600	3	3	52	1	0	0	0	0	1	0	0	0	8314	1800	63	4	4623	4	KIF20B	10	91518600	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	340794	91518600	44016147	446	12786											
SORBS1	10580	genome.wustl.edu	37	chr10	97096993	97096993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatctcgggggacagggctCggcgggagtggggcagagat	7	5	21	8	3	1	1	0	0	1	1	3	4	1	3	0	7	0	3	0	7	0	0	rs376968108		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:97096993C>T	ENST00000361941.3	-	28	2950	c.2924G>A	c.(2923-2925)cGa>cAa	p.R975Q	SORBS1_ENST00000371247.2_Missense_Mutation_p.R975Q|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.R929Q|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGACAGGGCTCGGCGGGAGTG	0.567																																																	0								C	GLN/ARG,,,,,,	0,4390		0,0,2195	15	18	17		2924,,,,,,	3.5	1	10		17	2,8588		0,2,4293	no	missense,intron,intron,intron,intron,intron,intron	SORBS1	NM_001034954.1,NM_001034955.1,NM_001034956.1,NM_001034957.1,NM_006434.2,NM_015385.2,NM_024991.1	43,,,,,,	0,2,6488	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,,,,,,	975/1293,,,,,,	97096993	2,12978	2195	4295	6490	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2924G>A	10.37:g.97096993C>T	ENSP00000355136:p.Arg975Gln			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R975Q	ENST00000361941.3	37	c.2924	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812104	0.32053	0.0	2.33E-4	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000361941	T;T;T	0.08546	3.14;3.08;3.14	5.58	3.47	0.39725	.	0.000000	0.34156	N	0.004220	T	0.02083	0.0065	N	0.00621	-1.32	0.80722	D	1	B;B	0.22346	0.068;0.041	B;B	0.14023	0.01;0.004	T	0.45308	-0.9270	10	0.12766	T	0.61	-2.9134	8.0912	0.30801	0.0:0.6816:0.1352:0.1832	.	929;975	Q9BX66-11;Q9BX66	.;SRBS1_HUMAN	Q	975;929;975	ENSP00000360293:R975Q;ENSP00000360271:R929Q;ENSP00000355136:R975Q	ENSP00000355136:R975Q	R	-	2	0	SORBS1	97086983	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.203000	0.32284	1.355000	0.45865	0.561000	0.74099	CGA	SORBS1	-	NULL	ENSG00000095637		0.567	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0	29	0	C			97096993	-1	tier1	-	no_errors	ENST00000361941	ensembl	human	known	74_37	missense	26.83	30	11	SNP	0.996	T	T	97096993	C	T	97096993	3	4	52	1	0	0	0	0	1	0	0	0	14972	884	31	1	1034	1	SORBS1	10	97096993	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5578393	97096993	38437754	447	12787											
ZDHHC16	84287	genome.wustl.edu	37	chr10	99215505	99215507	+	In_Frame_Del	DEL	AAG	AAG	-																															gcatcgaaaggcacatcaacAagaaggagagacgtcggcta																								rs146287872	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:99215505_99215507delAAG	ENST00000370854.3	+	9	1102_1104	c.913_915delAAG	c.(913-915)aagdel	p.K306del	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_In_Frame_Del_p.K225del|ZDHHC16_ENST00000370842.2_In_Frame_Del_p.K290del|ZDHHC16_ENST00000370846.4_In_Frame_Del_p.K236del|ZDHHC16_ENST00000393760.1_In_Frame_Del_p.K306del|ZDHHC16_ENST00000353979.3_In_Frame_Del_p.K267del|ZDHHC16_ENST00000352634.4_In_Frame_Del_p.K290del	NM_032327.2	NP_115703.2	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	306					apoptotic process (GO:0006915)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GCACATCAACAAGAAGGAGAGAC	0.532																																																	0									,,,,	1,4261		0,1,2130					,,,,	6.1	1			147	0,8254		0,0,4127	no	coding,coding,coding,coding,coding	ZDHHC16	NM_198046.1,NM_198045.1,NM_198044.1,NM_198043.1,NM_032327.2	,,,,	0,1,6257	A1A1,A1R,RR		0.0,0.0235,0.0080	,,,,	,,,,		1,12515				SO:0001651	inframe_deletion	0			AF258563	CCDS7460.1, CCDS7461.1, CCDS7462.1, CCDS7463.1, CCDS73176.1	10q24.1	2008-05-02			ENSG00000171307	ENSG00000171307		"Zinc fingers, DHHC-type"	20714	protein-coding gene	gene with protein product						12021275	Standard	NM_198043		Approved	APH2	uc001knk.3	Q969W1	OTTHUMG00000018847	ENST00000370854.3:c.913_915delAAG	10.37:g.99215508_99215510delAAG	ENSP00000359891:p.Lys306del		D3DR52|D3DR53|D3DR54|Q5JTG7|Q5JTH0|Q8N4Z6|Q8WY84|Q9BSV3	In_Frame_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K306in_frame_del	ENST00000370854.3	37	c.913_915	CCDS7460.1	10																																																																																			ZDHHC16	-	NULL	ENSG00000171307		0.532	ZDHHC16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZDHHC16	HGNC	protein_coding	OTTHUMT00000049658.2		0	47	0	AAG	NM_032327		99215507	1	tier1		no_errors	ENST00000370854	ensembl	human	known	74_37	in_frame_del	20.00	48	12	DEL	1.000:0.988:0.995	-	-	99215507	AAG	-	99215505	7	5	52	1	0	1	0	1	0	0	0	0	17654	131	5	0	943	0	ZDHHC16	10	99215505	In_Frame_Del	DEL	AAG	TCGA-L5-A43J-01A-12D-A247-09	2118512	99215505	36319242	448	12788											
BTRC	8945	genome.wustl.edu	37	chr10	103285773	103285773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccccctactgaaagctcGgggattggatcatattgctg	8	11	10	12	1	1	1	1	1	0	0	3	3	2	3	3	3	3	2	3	3	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:103285773G>A	ENST00000370187.3	+	6	678	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	BTRC_ENST00000393441.4_Missense_Mutation_p.R146Q|BTRC_ENST00000408038.2_Missense_Mutation_p.R151Q	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	187					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGAAAGCTCGGGGATTGGAT	0.438																																																	0													94	75	82					10																	103285773		2203	4300	6503	SO:0001583	missense	0			Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"F-boxes / WD-40 domains", "WD repeat domain containing"	1144	protein-coding gene	gene with protein product		603482	"beta-transducin repeat containing"			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.560G>A	10.37:g.103285773G>A	ENSP00000359206:p.Arg187Gln		B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R187Q	ENST00000370187.3	37	c.560	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193198	0.22037	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000370183	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.53	5.53	0.82687	F-box domain, Skp2-like (1);	0.000000	0.64402	D	0.000002	T	0.19644	0.0472	L	0.46885	1.475	0.58432	D	0.999996	B;B;B	0.20368	0.026;0.044;0.014	B;B;B	0.06405	0.002;0.002;0.001	T	0.02844	-1.1103	10	0.25106	T	0.35	-11.1644	13.7265	0.62761	0.0737:0.0:0.9263:0.0	.	161;151;187	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	Q	187;146;151;169	ENSP00000359206:R187Q;ENSP00000377088:R146Q;ENSP00000385339:R151Q;ENSP00000359202:R169Q	ENSP00000359202:R169Q	R	+	2	0	BTRC	103275763	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.612000	0.82975	2.611000	0.88343	0.650000	0.86243	CGG	BTRC	-	superfamily_F-box_dom	ENSG00000166167		0.438	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	HGNC	protein_coding	OTTHUMT00000049936.1	-	0	60	0	G	NM_033637		103285773	1	tier1	-	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	A	A	103285773	G	A	103285773	3	1	52	1	0	0	0	0	1	0	0	0	1573	1116	39	1	582	1	BTRC	10	103285773	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4070268	103285773	32248974	449	12789											
SORCS1	114815	genome.wustl.edu	37	chr10	108923947	108923947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgccttctcctgatccGctccgctccgtctcctccgg	1	13	8	19	4	3	1	0	1	3	0	9	1	7	1	7	1	1	3	7	1	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:108923947G>A	ENST00000263054.6	-	1	345	c.338C>T	c.(337-339)gCg>gTg	p.A113V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A113V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	113					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTCCTGATCCGCTCCGCTCCG	0.721																																																	0													30	29	29					10																	108923947		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.338C>T	10.37:g.108923947G>A	ENSP00000263054:p.Ala113Val		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.A113V	ENST00000263054.6	37	c.338	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	G	4.169	0.029855	0.08101	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.12672	2.66;2.67	4.45	-5.19	0.02832	.	2.152390	0.02225	N	0.064323	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26258	-1.0108	9	.	.	.	-0.0492	1.6294	0.02729	0.1644:0.2115:0.1577:0.4664	.	113;113;113;113;113	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	V	113	ENSP00000263054:A113V;ENSP00000345964:A113V	.	A	-	2	0	SORCS1	108913937	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.586000	0.05787	-0.876000	0.04017	-1.088000	0.02184	GCG	SORCS1	-	NULL	ENSG00000108018		0.721	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	19	0	G	NM_052918		108923947	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.000	A	A	108923947	G	A	108923947	3	1	52	1	0	0	0	0	1	0	0	0	14975	1087	38	1	3506	1	SORCS1	10	108923947	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	5638174	108923947	26610800	450	12790											
VTI1A	143187	genome.wustl.edu	37	chr10	114220329	114220329	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggagaaacagcttgaagaAgcgaaagaactggtatgtac	16	7	13	5	1	0	4	0	1	0	3	0	6	0	4	0	2	5	3	0	2	7	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:114220329A>C	ENST00000393077.2	+	2	257	c.141A>C	c.(139-141)gaA>gaC	p.E47D	VTI1A_ENST00000432306.1_Missense_Mutation_p.E47D	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	47					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		AGCTTGAAGAAGCGAAAGAAC	0.333			T	TCF7L2	colorectal																																			Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													94	92	92					10																	114220329		2203	4300	6503	SO:0001583	missense	0			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.141A>C	10.37:g.114220329A>C	ENSP00000376792:p.Glu47Asp		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.E47D	ENST00000393077.2	37	c.141	CCDS7575.2	10	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726359	0.69074	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	.	.	.	5.11	2.76	0.32466	t-SNARE (1);Vesicle transport v-SNARE, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.56124	1.755	0.43242	D	0.995156	D;D	0.60160	0.97;0.987	P;D	0.63381	0.831;0.914	T	0.61840	-0.6980	9	0.49607	T	0.09	-57.9528	7.1633	0.25677	0.7766:0.0:0.2234:0.0	.	47;47	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	D	47	.	ENSP00000376792:E47D	E	+	3	2	VTI1A	114210319	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.601000	0.61090	0.781000	0.33589	0.533000	0.62120	GAA	VTI1A	-	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE	ENSG00000151532		0.333	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2	-	0	19	0	A			114220329	1	tier1	-	no_errors	ENST00000393077	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	C	C	114220329	A	C	114220329	3	2	52	1	0	0	0	0	1	0	0	0	17284	69	3	4	147	4	VTI1A	10	114220329	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	5296382	114220329	21314418	451	12791											
TDRD1	56165	genome.wustl.edu	37	chr10	115986880	115986880	+	Frame_Shift_Del	DEL	A	A	-																															caattaataataatgctattAaaaaatttcatgttgaatca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:115986880delA	ENST00000251864.2	+	23	3378	c.3225delA	c.(3223-3225)ttafs	p.L1075fs	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369281.2_Frame_Shift_Del_p.L961fs|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1075					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)	p.L1075F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TAATGCTATTAAAAAATTTCA	0.299																																																	1	Substitution - Missense(1)	large_intestine(1)											31	32	32					10																	115986880		2203	4299	6502	SO:0001589	frameshift_variant	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3225delA	10.37:g.115986880delA	ENSP00000251864:p.Leu1075fs		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Frame_Shift_Del	DEL	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.N1077fs	ENST00000251864.2	37	c.3225	CCDS7588.1	10																																																																																			TDRD1	-	NULL	ENSG00000095627		0.299	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD1	HGNC	protein_coding			0	48	0	A			115986880	1	tier1		no_errors	ENST00000251864	ensembl	human	known	74_37	frame_shift_del	31.25	44	20	DEL	0.327	-	-	115986880	A	-	115986880	7	5	52	1	0	1	0	1	0	0	0	0	15777	359	13	0	3311	0	TDRD1	10	115986880	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	1766551	115986880	19547867	452	12792											
ABLIM1	3983	genome.wustl.edu	37	chr10	116203872	116203872	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctcttctttcaagatcaActgtcccaggcctgagttaa	10	13	6	12	0	4	2	2	1	2	1	6	2	5	2	2	1	1	1	2	1	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:116203872A>G	ENST00000277895.5	-	17	1946	c.1849T>C	c.(1849-1851)Ttg>Ctg	p.L617L	ABLIM1_ENST00000369266.3_Silent_p.L294L|ABLIM1_ENST00000369253.2_Silent_p.L240L|ABLIM1_ENST00000533213.2_Silent_p.L557L|ABLIM1_ENST00000369252.4_Silent_p.L557L|ABLIM1_ENST00000392952.3_Silent_p.L294L	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	617					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTCAAGATCAACTGTCCCAGG	0.423																																																	0													120	118	119					10																	116203872		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1849T>C	10.37:g.116203872A>G			A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Silent	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.L617	ENST00000277895.5	37	c.1849	CCDS7590.1	10																																																																																			ABLIM1	-	NULL	ENSG00000099204		0.423	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	-	0	41	0	A			116203872	-1	tier1	-	no_errors	ENST00000277895	ensembl	human	known	74_37	silent	31.25	33	15	SNP	1.000	G	G	116203872	A	G	116203872	2	3	52	1	0	0	0	0	0	0	0	1	94	40	2	4		4	ABLIM1	10	116203872	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	216992	116203872	19330875	453	12793											
ATRNL1	26033	genome.wustl.edu	37	chr10	117061383	117061383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttagtccaaatcaaaatgCgaggccgtgcaaaaagccat	16	7	9	9	2	1	0	1	0	0	0	2	1	2	0	3	1	3	2	3	1	6	1	rs140372621		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:117061383C>T	ENST00000355044.3	+	17	2774	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	ATRNL1_ENST00000303745.7_5'Flank|ATRNL1_ENST00000423111.2_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	883					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCAAAATGCGAGGCCGTGC	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		17189	0		0	False		,,,				2504	0																0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	133	100	111		2648	4.5	1	10	dbSNP_134	111	0,8600		0,0,4300	no	missense	ATRNL1	NM_207303.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	883/1380	117061383	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2648C>T	10.37:g.117061383C>T	ENSP00000347152:p.Ala883Val		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A883V	ENST00000355044.3	37	c.2648	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528344	0.44969	2.27E-4	0.0	ENSG00000107518	ENST00000355044	T	0.14144	2.53	5.41	4.51	0.55191	.	0.209770	0.50627	D	0.000116	T	0.09949	0.0244	N	0.24115	0.695	0.80722	D	1	B	0.25312	0.123	B	0.12837	0.008	T	0.13335	-1.0513	10	0.30078	T	0.28	-2.6064	14.1003	0.65051	0.0:0.9282:0.0:0.0718	.	883	Q5VV63	ATRN1_HUMAN	V	883	ENSP00000347152:A883V	ENSP00000347152:A883V	A	+	2	0	ATRNL1	117051373	1.000000	0.71417	0.997000	0.53966	0.805000	0.45488	5.999000	0.70665	1.295000	0.44724	-0.136000	0.14681	GCG	ATRNL1	-	NULL	ENSG00000107518		0.378	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	36	0	C	XM_049349		117061383	1	tier1	rs140372621	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	28.07	40	16	SNP	1.000	T	T	117061383	C	T	117061383	3	4	52	1	0	0	0	0	1	0	0	0	1208	768	27	1	2714	1	ATRNL1	10	117061383	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	857511	117061383	18473364	454	12794											
HSPA12A	259217	genome.wustl.edu	37	chr10	118464786	118464786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagacgttggagtcagtgtCgttctgcagatatacagtga	10	12	13	6	2	2	3	1	2	1	2	3	5	2	4	0	1	2	3	0	1	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:118464786C>T	ENST00000369209.3	-	3	234	c.130G>A	c.(130-132)Gac>Aac	p.D44N		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	44						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GAGTCAGTGTCGTTCTGCAGA	0.577																																																	0													165	176	172					10																	118464786		2143	4269	6412	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.130G>A	10.37:g.118464786C>T	ENSP00000358211:p.Asp44Asn			Missense_Mutation	SNP	NULL	p.D44N	ENST00000369209.3	37	c.130	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133369	0.77662	.	.	ENSG00000165868	ENST00000369209	T	0.43294	0.95	5.93	5.93	0.95920	.	0.132495	0.64402	D	0.000003	T	0.38904	0.1058	L	0.44542	1.39	0.80722	D	1	B	0.21381	0.055	B	0.17979	0.02	T	0.15896	-1.0421	10	0.17369	T	0.5	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	44	O43301	HS12A_HUMAN	N	44	ENSP00000358211:D44N	ENSP00000358211:D44N	D	-	1	0	HSPA12A	118454776	1.000000	0.71417	0.502000	0.27614	0.598000	0.36846	5.847000	0.69451	2.808000	0.96608	0.655000	0.94253	GAC	HSPA12A	-	NULL	ENSG00000165868		0.577	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0	39	0	C	NM_025015		118464786	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	34.04	62	32	SNP	1.000	T	T	118464786	C	T	118464786	3	4	52	1	0	0	0	0	1	0	0	0	7431	884	31	1	1937	1	HSPA12A	10	118464786	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1403403	118464786	17069961	455	12795											
INPP5F	22876	genome.wustl.edu	37	chr10	121551401	121551401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttaaggaaagtaaagagaaGgagaagttggagaggagatt	18	7	16	0	0	0	4	0	0	0	4	0	9	0	5	0	4	0	3	0	4	6	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:121551401G>T	ENST00000361976.2	+	5	631	c.465G>T	c.(463-465)aaG>aaT	p.K155N	INPP5F_ENST00000369081.1_Missense_Mutation_p.K59N|INPP5F_ENST00000369083.3_Missense_Mutation_p.K155N	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GTAAAGAGAAGGAGAAGTTGG	0.353																																																	0													116	119	118					10																	121551401		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.465G>T	10.37:g.121551401G>T	ENSP00000354519:p.Lys155Asn		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.K155N	ENST00000361976.2	37	c.465	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208386	0.58343	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T;T	0.58358	0.34;0.34;0.34	5.68	2.85	0.33270	Synaptojanin, N-terminal (1);	0.215815	0.48767	D	0.000162	T	0.67458	0.2895	M	0.72118	2.19	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	T	0.66834	-0.5823	10	0.51188	T	0.08	-26.1989	10.0171	0.42020	0.3207:0.0:0.6793:0.0	.	155;155	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	N	155;155;59	ENSP00000354519:K155N;ENSP00000358079:K155N;ENSP00000358077:K59N	ENSP00000354519:K155N	K	+	3	2	INPP5F	121541391	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.130000	0.31393	0.749000	0.32854	-0.157000	0.13467	AAG	INPP5F	-	pfam_Syja_N	ENSG00000198825		0.353	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1		0	19	0	G	NM_014937		121551401	1			no_errors	ENST00000361976	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	121551401	G	T	121551401	3	4	52	1	0	0	0	0	1	0	0	0	7785	991	35	3	483	3	INPP5F	10	121551401	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3086615	121551401	13983346	456	12796											
DOCK1	1793	genome.wustl.edu	37	chr10	128841421	128841421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactttagtgcaacgttaGcctacacgtaagttcctact	12	12	6	11	2	0	0	0	0	0	0	1	0	1	0	2	0	6	4	2	0	7	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr10:128841421G>A	ENST00000280333.6	+	21	2240	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	711					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCAACGTTAGCCTACACGTA	0.308																																																	0													72	67	68					10																	128841421		1834	4071	5905	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2131G>A	10.37:g.128841421G>A	ENSP00000280333:p.Ala711Thr		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.A711T	ENST00000280333.6	37	c.2131		10	.	.	.	.	.	.	.	.	.	.	G	32	5.156479	0.94686	.	.	ENSG00000150760	ENST00000280333	T	0.67698	-0.28	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.83954	0.5366	M	0.92122	3.275	0.80722	D	1	P;P	0.49862	0.862;0.929	P;P	0.57620	0.824;0.645	D	0.88448	0.3047	10	0.87932	D	0	.	17.9189	0.88960	0.0:0.0:1.0:0.0	.	711;711	B2RUU3;Q14185	.;DOCK1_HUMAN	T	711	ENSP00000280333:A711T	ENSP00000280333:A711T	A	+	1	0	DOCK1	128731411	1.000000	0.71417	0.988000	0.46212	0.934000	0.57294	7.679000	0.84048	2.537000	0.85549	0.655000	0.94253	GCC	DOCK1	-	superfamily_ARM-type_fold	ENSG00000150760		0.308	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0	34	0	G	NM_001380		128841421	1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	A	A	128841421	G	A	128841421	3	1	52	1	0	0	0	0	1	0	0	0	4698	971	34	3	2213	3	DOCK1	10	128841421	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	7290020	128841421	6693326	457	12797											
MUC5B	727897	genome.wustl.edu	37	chr11	1252187	1252187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgggtccaagcggacGgcggcgtgttcctcaactcc	6	7	12	16	5	1	0	1	0	0	0	5	1	5	1	5	4	2	1	5	4	2	1	rs368620070		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:1252187G>A	ENST00000529681.1	+	13	1550	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S	MUC5B_ENST00000447027.1_Missense_Mutation_p.G501S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	498	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAAGCGGACGGCGGCGTGTT	0.687													g|||	1	0.000199681	0	0	5008	,	,		12105	0		0.001	False		,,,				2504	0																0																																										SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.1492G>A	11.37:g.1252187G>A	ENSP00000436812:p.Gly498Ser		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G501S	ENST00000529681.1	37	c.1501	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	g	12.42	1.933124	0.34096	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.59083	0.29;0.29	3.93	3.93	0.45458	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.80773	0.4687	M	0.92691	3.335	0.23192	N	0.998148	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.991;0.998;0.998	T	0.72567	-0.4254	9	0.87932	D	0	.	13.1051	0.59244	0.0:0.0:1.0:0.0	.	498;1157;501	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	S	498;501;499;534	ENSP00000436812:G498S;ENSP00000415793:G501S	ENSP00000343037:G499S	G	+	1	0	MUC5B	1208763	1.000000	0.71417	0.011000	0.14972	0.013000	0.08279	7.589000	0.82641	1.726000	0.51525	0.457000	0.33378	GGC	MUC5B	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000117983		0.687	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	23	0	G	XM_001126093		1252187	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.325	A	A	1252187	G	A	1252187	3	1	52	1	0	0	0	0	1	0	0	0	10017	1116	39	1	1551	1	MUC5B	11	1252187	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		1252187	133754329	458	12798											
MUC5B	727897	genome.wustl.edu	37	chr11	1282626	1282626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgtccacaggtactcaGcagaggcccaggccatgcag	9	5	12	15	1	1	1	1	0	0	1	2	1	2	1	4	3	4	3	4	3	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:1282626G>A	ENST00000529681.1	+	49	17135	c.17077G>A	c.(17077-17079)Gca>Aca	p.A5693T	MUC5B_ENST00000447027.1_Missense_Mutation_p.A5696T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5693	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGGTACTCAGCAGAGGCCCA	0.662																																																	0													34	41	38					11																	1282626		2138	4149	6287	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.17077G>A	11.37:g.1282626G>A	ENSP00000436812:p.Ala5693Thr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A5696T	ENST00000529681.1	37	c.17086	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	7.941	0.742761	0.15642	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.17691	2.26;2.45	4.31	-8.62	0.00881	.	.	.	.	.	T	0.15652	0.0377	M	0.66297	2.02	0.09310	N	1	P;P	0.47409	0.895;0.895	B;B	0.41236	0.351;0.351	T	0.06285	-1.0835	9	0.87932	D	0	.	8.5331	0.33346	0.1352:0.5077:0.3571:0.0	.	6030;5696	A7Y9J9;E9PBJ0	.;.	T	5693;5696;5637;592;5405	ENSP00000436812:A5693T;ENSP00000415793:A5696T	ENSP00000343037:A5637T	A	+	1	0	MUC5B	1239202	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.046000	0.03525	-1.995000	0.00971	0.561000	0.74099	GCA	MUC5B	-	smart_Cys_knot_C,pfscan_Cys_knot_C	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	71	0	G	XM_001126093		1282626	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	34.29	68	36	SNP	0.000	A	A	1282626	G	A	1282626	3	1	52	1	0	0	0	0	1	0	0	0	10017	971	34	3	17280	3	MUC5B	11	1282626	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	30439	1282626	133723890	459	12799											
CARS	833	genome.wustl.edu	37	chr11	3062148	3062148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgccccatgtgagatgCgtcatagacggttggcccac	7	8	14	12	3	1	2	1	1	0	2	1	3	1	2	3	3	2	1	3	3	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:3062148C>T	ENST00000397111.5	-	3	429	c.184G>A	c.(184-186)Gca>Aca	p.A62T	CARS_ENST00000278224.9_Missense_Mutation_p.A62T|CARS_ENST00000380525.4_Missense_Mutation_p.A145T|CARS_ENST00000397114.3_Missense_Mutation_p.A52T|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000401769.3_Missense_Mutation_p.A75T			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	62					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATGTGAGATGCGTCATAGACG	0.537			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													238	174	196					11																	3062148		2202	4298	6500	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.184G>A	11.37:g.3062148C>T	ENSP00000380300:p.Ala62Thr		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.A145T	ENST00000397111.5	37	c.433	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.185021	0.94885	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.45668	3.15;3.15;3.15;0.89;3.15	4.29	4.29	0.51040	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.119294	0.56097	D	0.000026	T	0.55955	0.1953	M	0.64997	1.995	0.80722	D	1	P;P;D;D;P;D	0.69078	0.901;0.911;0.997;0.984;0.903;0.989	P;B;P;P;B;P	0.59825	0.458;0.427;0.864;0.611;0.427;0.786	T	0.52668	-0.8545	10	0.21540	T	0.41	-22.4503	16.9537	0.86252	0.0:1.0:0.0:0.0	.	75;145;62;62;145;52	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	T	145;62;62;52;75	ENSP00000369897:A145T;ENSP00000380300:A62T;ENSP00000278224:A62T;ENSP00000380303:A52T;ENSP00000384069:A75T	ENSP00000278224:A62T	A	-	1	0	CARS	3018724	1.000000	0.71417	0.911000	0.35937	0.992000	0.81027	6.963000	0.76055	2.218000	0.71995	0.650000	0.86243	GCA	CARS	-	pfam_Cys-tRNA/MSH_ligase,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	ENSG00000110619		0.537	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	-	0	26	0	C	NM_001751		3062148	-1	tier1	-	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T	T	3062148	C	T	3062148	3	4	52	1	0	0	0	0	1	0	0	0	2664	768	27	1	2150	1	CARS	11	3062148	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1779522	3062148	131944368	460	12800											
C11orf40	143501	genome.wustl.edu	37	chr11	4592711	4592711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagaacacgatccatacagTttttccctgcaaagacctgg	12	10	8	11	1	0	2	0	0	0	2	2	3	2	2	3	1	3	3	3	1	4	4	rs78543312		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:4592711T>A	ENST00000307616.1	-	4	595	c.596A>T	c.(595-597)aAc>aTc	p.N199I		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	199										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		atccatacagtttttccCTGC	0.443																																																	0													84	74	77					11																	4592711		2137	4195	6332	SO:0001583	missense	0				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.596A>T	11.37:g.4592711T>A	ENSP00000302918:p.Asn199Ile			Missense_Mutation	SNP	NULL	p.N199I	ENST00000307616.1	37	c.596	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	T	0.390	-0.923749	0.02377	.	.	ENSG00000171987	ENST00000307616	T	0.53857	0.6	0.56	0.56	0.17279	.	.	.	.	.	T	0.47135	0.1429	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	D	0.68039	0.955	T	0.37731	-0.9693	8	0.87932	D	0	.	.	.	.	.	199	Q8WZ69	CK040_HUMAN	I	199	ENSP00000302918:N199I	ENSP00000302918:N199I	N	-	2	0	C11orf40	4549287	0.002000	0.14202	0.004000	0.12327	0.020000	0.10135	0.670000	0.25157	0.473000	0.27368	0.155000	0.16302	AAC	C11orf40	-	NULL	ENSG00000171987		0.443	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1		0	74	0	T	NM_144663		4592711	-1			no_errors	ENST00000307616	ensembl	human	known	74_37	missense	7.69	84	7	SNP	0.006	A	A	4592711	T	A	4592711	3	1	52	1	0	0	0	0	1	0	0	0	1644	1725	60	5	60	5	C11orf40	11	4592711	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1530563	4592711	130413805	461	12801											
HPX	3263	genome.wustl.edu	37	chr11	6461701	6461701	+	Frame_Shift_Del	DEL	A	A	-																															cctcagtccctcctacctttAaaaaacagcatggttccatt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:6461701delA	ENST00000265983.3	-	3	310	c.210delT	c.(208-210)tttfs	p.F70fs	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	70					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TCCTACCTTTAAAAAACAGCA	0.488																																																	0													117	113	115					11																	6461701		2201	4296	6497	SO:0001589	frameshift_variant	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.210delT	11.37:g.6461701delA	ENSP00000265983:p.Phe70fs		B2R957	Frame_Shift_Del	DEL	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.F70fs	ENST00000265983.3	37	c.210	CCDS7763.1	11																																																																																			HPX	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.488	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1		0	26	0	A	NM_000613		6461701	-1	tier1		no_errors	ENST00000265983	ensembl	human	known	74_37	frame_shift_del	52.94	16	18	DEL	0.998	-	-	6461701	A	-	6461701	7	5	52	1	0	1	0	1	0	0	0	0	7373	359	13	0	1210	0	HPX	11	6461701	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	1868990	6461701	128544815	462	12802											
DCHS1	8642	genome.wustl.edu	37	chr11	6655411	6655411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcacggtccagggtccGggttgtgcacacatcaccgc	6	8	13	14	3	2	0	2	0	0	0	4	0	4	0	3	4	1	2	3	4	0	1	rs374740842		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:6655411G>A	ENST00000299441.3	-	3	2335	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCAGGGTCCGGGTTGTGCAC	0.592																																																	0								G	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	96	90	92		1924	3.8	0.9	11		92	0,8592		0,0,4296	no	missense	DCHS1	NM_003737.2	101	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	642/3299	6655411	1,12993	2201	4296	6497	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1924C>T	11.37:g.6655411G>A	ENSP00000299441:p.Arg642Trp		O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R642W	ENST00000299441.3	37	c.1924	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937691	0.52972	2.27E-4	0.0	ENSG00000166341	ENST00000299441	T	0.54279	0.58	4.75	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.176831	0.27455	N	0.019300	T	0.64853	0.2636	L	0.50847	1.595	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56727	-0.7931	10	0.72032	D	0.01	.	11.5319	0.50616	0.0:0.0:0.8208:0.1792	.	642	Q96JQ0	PCD16_HUMAN	W	642	ENSP00000299441:R642W	ENSP00000299441:R642W	R	-	1	2	DCHS1	6611987	0.981000	0.34729	0.929000	0.37066	0.958000	0.62258	1.752000	0.38349	1.172000	0.42781	0.561000	0.74099	CGG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	-	0	28	0	G	NM_003737		6655411	-1	tier1	-	no_errors	ENST00000299441	ensembl	human	known	74_37	missense	58.57	29	41	SNP	0.002	A	A	6655411	G	A	6655411	3	1	52	1	0	0	0	0	1	0	0	0	4296	1115	39	1	8048	1	DCHS1	11	6655411	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	193710	6655411	128351105	463	12803											
OR10A2	341276	genome.wustl.edu	37	chr11	6891852	6891852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgaagaatgccctcagCaggacggtctctaaggccct	10	7	13	11	1	2	2	1	1	1	1	3	4	2	3	2	4	2	1	2	4	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:6891852C>G	ENST00000307322.4	+	1	929	c.867C>G	c.(865-867)agC>agG	p.S289R		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGCCCTCAGCAGGACGGTCT	0.458																																																	0													92	89	90					11																	6891852		2201	4296	6497	SO:0001583	missense	0			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"GPCR / Class A : Olfactory receptors"	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.867C>G	11.37:g.6891852C>G	ENSP00000303862:p.Ser289Arg		B2RNL9|Q6IFG9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S289R	ENST00000307322.4	37	c.867	CCDS31415.1	11	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.651027	0.00785	.	.	ENSG00000170790	ENST00000307322	T	0.33654	1.4	4.18	1.27	0.21489	.	1.182530	0.05828	N	0.616972	T	0.10252	0.0251	N	0.01076	-1.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34800	-0.9814	10	0.02654	T	1	.	3.7404	0.08527	0.0:0.5019:0.1855:0.3126	.	289	Q9H208	O10A2_HUMAN	R	289	ENSP00000303862:S289R	ENSP00000303862:S289R	S	+	3	2	OR10A2	6848428	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.531000	0.06171	0.545000	0.28902	-0.141000	0.14075	AGC	OR10A2	-	NULL	ENSG00000170790		0.458	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1	-	0	42	0	C	NM_001004460		6891852	1	tier1	-	no_errors	ENST00000307322	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.000	G	G	6891852	C	G	6891852	3	3	52	1	0	0	0	0	1	0	0	0	10929	709	25	5	869	5	OR10A2	11	6891852	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	236441	6891852	128114664	464	12804											
OR5P2	120065	genome.wustl.edu	37	chr11	7818170	7818171	+	Missense_Mutation	DNP	TC	TC	AA																															tggcagccagaaggacgcatTcgactgttgcaaagaaagcc																								rs569926953|rs147652902	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:7818170_7818171TC>AA	ENST00000329434.2	-	1	349_350	c.319_320GA>TT	c.(319-321)GAa>TTa	p.E107L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGGACGCATTCGACTGTTGCA	0.49																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001583	missense	0			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"GPCR / Class A : Olfactory receptors"	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.319_320delinsAA	11.37:g.7818170_7818171delinsAA	ENSP00000331823:p.Glu107Leu		Q3MIS8	Missense_Mutation|Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E107V|p.E107*	ENST00000329434.2	37	c.320|c.319	CCDS7782.1	11																																																																																			OR5P2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183303		0.49	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	HGNC	protein_coding	OTTHUMT00000385696.1	-	0	40|38	0	T|C	NM_153444		7818170|7818171	-1	tier1	-	no_errors	ENST00000329434	ensembl	human	known	74_37	missense|nonsense	38.18|37.50	34|35	21	SNP	0.999|0.921	A	AA	7818171	TC	AA	7818170	3	1	52	1	0	0	0	0	1	0	0	0	11217	1783	62	5	652	5	OR5P2	11	7818170	Missense_Mutation	DNP	TC	TCGA-L5-A43J-01A-12D-A247-09	926318	7818170	127188346	465	12805											
RIC3	79608	genome.wustl.edu	37	chr11	8132633	8132633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagattgtttcttgcctaCgcttgatacagtctgaaagg	10	13	9	9	1	2	3	0	2	2	1	2	3	2	3	2	1	3	2	2	1	4	6	rs575742410		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:8132633C>T	ENST00000309737.6	-	6	721	c.722G>A	c.(721-723)cGt>cAt	p.R241H	RIC3_ENST00000343202.4_Missense_Mutation_p.R240H|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Missense_Mutation_p.R59H|RIC3_ENST00000539720.1_Missense_Mutation_p.R192H|RIC3_ENST00000396677.2_Missense_Mutation_p.R79H|RIC3_ENST00000425599.2_Missense_Mutation_p.R160H			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	241					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TTCTTGCCTACGCTTGATACA	0.383																																																	0													84	84	84					11																	8132633		2201	4296	6497	SO:0001583	missense	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.722G>A	11.37:g.8132633C>T	ENSP00000308820:p.Arg241His		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	NULL	p.R241H	ENST00000309737.6	37	c.722	CCDS55742.1	11	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473346	0.26423	.	.	ENSG00000166405	ENST00000396677;ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450	T;T;T;T;T	0.40756	1.11;1.11;1.12;1.02;1.12	6.06	-6.42	0.01932	.	0.493453	0.21803	N	0.068883	T	0.44993	0.1320	L	0.46885	1.475	0.37888	D	0.930619	B;D;B;B;B;B	0.76494	0.038;0.999;0.025;0.035;0.035;0.014	B;P;B;B;B;B	0.57204	0.012;0.815;0.018;0.012;0.012;0.007	T	0.57619	-0.7780	10	0.38643	T	0.18	.	16.2204	0.82255	0.0:0.387:0.0:0.613	.	269;160;59;241;240;79	B7Z1U4;B0B1U0;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5;D3DQU6	.;.;.;RIC3_HUMAN;.;.	H	79;59;240;241;269;192;160;269	ENSP00000344904:R240H;ENSP00000308820:R241H;ENSP00000443871:R192H;ENSP00000395320:R160H;ENSP00000431658:R269H	ENSP00000308820:R241H	R	-	2	0	RIC3	8089209	0.000000	0.05858	0.341000	0.25589	0.888000	0.51559	-2.434000	0.01021	-1.836000	0.01190	-1.099000	0.02127	CGT	RIC3	-	NULL	ENSG00000166405		0.383	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1	-	0	33	0	C	NM_024557		8132633	-1	tier1	-	no_errors	ENST00000309737	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.219	T	T	8132633	C	T	8132633	3	4	52	1	0	0	0	0	1	0	0	0	13399	536	19	1	391	1	RIC3	11	8132633	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	314463	8132633	126873883	466	12806											
SCUBE2	57758	genome.wustl.edu	37	chr11	9090982	9090982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacaggcgacgctgcccCttggggcctccttgcagatg	6	8	12	15	2	1	1	1	0	0	1	2	2	2	1	4	3	2	2	4	3	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:9090982C>A	ENST00000309263.3	-	5	650	c.578G>T	c.(577-579)aGg>aTg	p.R193M	SCUBE2_ENST00000520467.1_Missense_Mutation_p.R193M|SCUBE2_ENST00000450649.2_Missense_Mutation_p.R193M|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R193M			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	193	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GACGCTGCCCCTTGGGGCCTC	0.567																																																	0													117	102	107					11																	9090982		2201	4296	6497	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.578G>T	11.37:g.9090982C>A	ENSP00000310658:p.Arg193Met		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R193M	ENST00000309263.3	37	c.578		11	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254450	0.59212	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	4.79	-1.16	0.09678	Epidermal growth factor-like (1);	0.285984	0.42548	D	0.000681	D	0.83175	0.5197	N	0.17872	0.535	0.38445	D	0.946814	D;P;P	0.53462	0.96;0.937;0.885	P;P;P	0.58721	0.844;0.819;0.664	T	0.81097	-0.1087	10	0.62326	D	0.03	.	9.0897	0.36603	0.0:0.4027:0.0:0.5973	.	193;193;193	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	M	193	ENSP00000390481:R193M;ENSP00000310658:R193M;ENSP00000415187:R193M;ENSP00000429969:R193M	ENSP00000310658:R193M	R	-	2	0	SCUBE2	9047558	1.000000	0.71417	0.277000	0.24703	0.951000	0.60555	1.371000	0.34250	-0.038000	0.13624	0.655000	0.94253	AGG	SCUBE2	-	smart_EG-like_dom	ENSG00000175356		0.567	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	-	0	21	0	C	NM_020974		9090982	-1	tier1	-	no_errors	ENST00000457346	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.931	A	A	9090982	C	A	9090982	3	1	52	1	0	0	0	0	1	0	0	0	13990	681	24	3	2584	3	SCUBE2	11	9090982	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	958349	9090982	125915534	467	12807											
DENND5A	23258	genome.wustl.edu	37	chr11	9164987	9164987	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagtgcttcacaatgccaTtgactgcctccccgatggac	9	9	10	13	1	1	1	1	1	0	0	2	4	2	3	4	2	3	1	4	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:9164987T>C	ENST00000328194.3	-	20	3670	c.3350A>G	c.(3349-3351)aAt>aGt	p.N1117S	DENND5A_ENST00000527700.1_Missense_Mutation_p.N460S|DENND5A_ENST00000530044.1_Missense_Mutation_p.N1117S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1117					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACAATGCCATTGACTGCCTC	0.458																																																	0													235	214	221					11																	9164987		2201	4296	6497	SO:0001583	missense	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3350A>G	11.37:g.9164987T>C	ENSP00000328524:p.Asn1117Ser		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.N1117S	ENST00000328194.3	37	c.3350	CCDS31423.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.5|28.5	4.926806|4.926806	0.92319|0.92319	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000533737|ENST00000328194;ENST00000530044;ENST00000527700	.|T;T;T	.|0.11277	.|2.79;2.79;2.79	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36608|0.36608	0.0973|0.0973	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.99	.|D;P	.|0.72338	.|0.977;0.886	T|T	0.16689|0.16689	-1.0394|-1.0394	5|10	.|0.87932	.|D	.|0	.|.	16.3756|16.3756	0.83387|0.83387	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1117;1117	.|E9PS91;Q6IQ26	.|.;DEN5A_HUMAN	V|S	5|1117;1117;460	.|ENSP00000328524:N1117S;ENSP00000435866:N1117S;ENSP00000432549:N460S	.|ENSP00000328524:N1117S	M|N	-|-	1|2	0|0	DENND5A|DENND5A	9121563|9121563	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.008000|8.008000	0.88588|0.88588	2.270000|2.270000	0.75569|0.75569	0.460000|0.460000	0.39030|0.39030	ATG|AAT	DENND5A	-	NULL	ENSG00000184014		0.458	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2	-	0	26	0	T	NM_015213		9164987	-1	tier1	-	no_errors	ENST00000328194	ensembl	human	known	74_37	missense	58.82	14	20	SNP	1.000	C	C	9164987	T	C	9164987	3	2	52	1	0	0	0	0	1	0	0	0	4450	1493	52	4	529	4	DENND5A	11	9164987	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	74005	9164987	125841529	468	12808											
ARNTL	406	genome.wustl.edu	37	chr11	13399889	13399889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attcctttgttgtaggtggcCcaaagaggacccaccccact	9	10	9	13	0	0	1	0	0	0	1	1	2	1	2	5	3	0	2	5	3	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:13399889C>A	ENST00000403290.1	+	17	1775	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T	ARNTL_ENST00000389708.3_Silent_p.A505A|ARNTL_ENST00000401424.1_Missense_Mutation_p.P431T|ARNTL_ENST00000389707.4_Missense_Mutation_p.P473T|ARNTL_ENST00000361003.4_Missense_Mutation_p.P356T|ARNTL_ENST00000396441.3_Missense_Mutation_p.P473T|ARNTL_ENST00000403510.3_Missense_Mutation_p.P430T|ARNTL_ENST00000403482.3_Missense_Mutation_p.P472T			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	474					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGTAGGTGGCCCAAAGAGGAC	0.458																																																	0													30	32	32					11																	13399889		2199	4294	6493	SO:0001583	missense	0			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.1420C>A	11.37:g.13399889C>A	ENSP00000384517:p.Pro474Thr		A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Missense_Mutation	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.P474T	ENST00000403290.1	37	c.1420		11	.	.	.	.	.	.	.	.	.	.	C	8.347	0.830011	0.16749	.	.	ENSG00000133794	ENST00000396441;ENST00000389707;ENST00000401424;ENST00000403290;ENST00000361003;ENST00000403510;ENST00000339640;ENST00000403482	T;T;T;T;T;T;T	0.11277	3.14;3.14;3.14;3.14;2.79;3.14;3.12	5.56	5.56	0.83823	.	0.509310	0.21540	N	0.072909	T	0.04815	0.0130	N	0.02011	-0.69	0.80722	D	1	B;B;B;B;B	0.11235	0.004;0.0;0.0;0.001;0.0	B;B;B;B;B	0.12837	0.008;0.001;0.001;0.003;0.001	T	0.49173	-0.8967	10	0.21540	T	0.41	.	14.0208	0.64553	0.1513:0.8487:0.0:0.0	.	472;431;474;473;430	O00327-7;O00327-1;O00327;O00327-8;A2I2N6	.;.;BMAL1_HUMAN;.;.	T	473;473;431;474;356;430;430;472	ENSP00000379718:P473T;ENSP00000374357:P473T;ENSP00000385915:P431T;ENSP00000384517:P474T;ENSP00000354278:P356T;ENSP00000385581:P430T;ENSP00000385897:P472T	ENSP00000340289:P430T	P	+	1	0	ARNTL	13356465	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	2.608000	0.88229	0.655000	0.94253	CCA	ARNTL	-	NULL	ENSG00000133794		0.458	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	-	0	29	0	C	NM_001178		13399889	1	tier1	-	no_errors	ENST00000403290	ensembl	human	known	74_37	missense	77.14	8	27	SNP	1.000	A	A	13399889	C	A	13399889	3	1	52	1	0	0	0	0	1	0	0	0	968	623	22	3	1482	3	ARNTL	11	13399889	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4234902	13399889	121606627	469	12809											
SAAL1	113174	genome.wustl.edu	37	chr11	18103046	18103046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttactccctgagccaccGtctcctaaaacaacaacaag	13	8	4	16	1	1	1	0	1	1	0	3	1	2	1	5	0	5	0	5	0	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:18103046G>A	ENST00000524803.1	-	11	1293	c.1244C>T	c.(1243-1245)aCg>aTg	p.T415M	SAAL1_ENST00000300013.4_Missense_Mutation_p.T414M|SAAL1_ENST00000529318.1_Missense_Mutation_p.T417M			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	415										breast(2)|large_intestine(5)|lung(8)	15						CTGAGCCACCGTCTCCTAAAA	0.388																																																	0													96	92	93					11																	18103046		2200	4293	6493	SO:0001583	missense	0			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1244C>T	11.37:g.18103046G>A	ENSP00000432487:p.Thr415Met		A6NH05	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T415M	ENST00000524803.1	37	c.1244	CCDS31439.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.39|11.39	1.624090|1.624090	0.28889|0.28889	.|.	.|.	ENSG00000166788|ENSG00000166788	ENST00000532452|ENST00000524803;ENST00000300013;ENST00000529318	.|T;T;T	.|0.31769	.|1.48;1.48;1.48	6.03|6.03	1.69|1.69	0.24217|0.24217	.|.	.|0.525534	.|0.23038	.|N	.|0.052656	T|T	0.13841|0.13841	0.0335|0.0335	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|D;P;P	.|0.54397	.|0.966;0.938;0.938	.|B;B;B	.|0.39185	.|0.293;0.293;0.293	T|T	0.13845|0.13845	-1.0494|-1.0494	5|9	.|.	.|.	.|.	-0.2204|-0.2204	2.0626|2.0626	0.03596|0.03596	0.1594:0.1015:0.3469:0.3921|0.1594:0.1015:0.3469:0.3921	.|.	.|417;415;415	.|E9PRZ1;G1UCX3;Q96ER3	.|.;.;SAAL1_HUMAN	W|M	74|415;414;417	.|ENSP00000432487:T415M;ENSP00000300013:T414M;ENSP00000432216:T417M	.|.	R|T	-|-	1|2	2|0	SAAL1|SAAL1	18059622|18059622	0.388000|0.388000	0.25197|0.25197	0.212000|0.212000	0.23672|0.23672	0.620000|0.620000	0.37586|0.37586	0.748000|0.748000	0.26305|0.26305	0.423000|0.423000	0.26033|0.26033	0.551000|0.551000	0.68910|0.68910	CGG|ACG	SAAL1	-	NULL	ENSG00000166788		0.388	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAAL1	HGNC	protein_coding	OTTHUMT00000389728.1		0	13	0	G	NM_138421		18103046	-1			no_errors	ENST00000524803	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.011	A	A	18103046	G	A	18103046	3	1	52	1	0	0	0	0	1	0	0	0	13846	1145	40	1	188	1	SAAL1	11	18103046	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4703157	18103046	116903470	470	12810											
C11orf41	25758	genome.wustl.edu	37	chr11	33677558	33677558	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgcttgtctctttcacagGcttacaggttttcccagctt	6	17	7	11	0	2	0	1	0	1	0	4	0	3	0	1	2	3	4	1	2	1	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:33677558G>T	ENST00000321505.4	+	17	5050	c.4870G>T	c.(4870-4872)Gct>Tct	p.A1624S	KIAA1549L_ENST00000389726.3_Splice_Site_p.A1630S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1624						integral component of membrane (GO:0016021)											TCTTTCACAGGCTTACAGGTT	0.552																																																	0													65	67	67					11																	33677558		1984	4162	6146	SO:0001630	splice_region_variant	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.4870-1G>T	11.37:g.33677558G>T			B0QYU0	Missense_Mutation	SNP	NULL	p.A1630S	ENST00000321505.4	37	c.4888	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259932	0.39995	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000010	T	0.61337	0.2339	L	0.27053	0.805	0.44539	D	0.997497	D	0.71674	0.998	D	0.66847	0.947	T	0.57585	-0.7786	8	.	.	.	-18.5825	13.0533	0.58966	0.0736:0.0:0.9264:0.0	.	1630	E9PAT2	.	S	1624;1630;1463	.	.	A	+	1	0	C11orf41	33634134	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	4.623000	0.61247	2.746000	0.94184	0.655000	0.94253	GCT	KIAA1549L	-	NULL	ENSG00000110427		0.552	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0	45	0	G	NM_012194	Missense_Mutation	33677558	1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	31.71	56	26	SNP	1.000	T	T	33677558	G	T	33677558	5	4	52	1	0	0	0	0	0	0	1	0	1645	1217	42	3	4954	3	C11orf41	11	33677558	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	15574512	33677558	101328958	471	12811											
TRAF6	7189	genome.wustl.edu	37	chr11	36522834	36522834	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtttgcactgcttctcGtaatgccatcaagcagatgg	8	12	11	10	2	2	1	1	0	1	1	3	1	2	1	1	2	4	5	1	2	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:36522834G>A	ENST00000526995.1	-	2	478	c.232C>T	c.(232-234)Cga>Tga	p.R78*	TRAF6_ENST00000348124.5_Nonsense_Mutation_p.R78*	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	78	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ACTGCTTCTCGTAATGCCATC	0.458																																																	0													69	54	59					11																	36522834		2202	4298	6500	SO:0001587	stop_gained	0				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"RING-type (C3HC4) zinc fingers"	12036	protein-coding gene	gene with protein product		602355	"TNF receptor-associated factor 6"			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.232C>T	11.37:g.36522834G>A	ENSP00000433623:p.Arg78*		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Nonsense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R78*	ENST00000526995.1	37	c.232	CCDS7901.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.875538	0.97055	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	.	.	.	5.62	5.62	0.85841	.	0.437141	0.27659	N	0.018397	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.134	19.6539	0.95828	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	ENSP00000337853:R78X	R	-	1	2	TRAF6	36479410	1.000000	0.71417	0.932000	0.37286	0.288000	0.27193	4.233000	0.58651	2.653000	0.90120	0.467000	0.42956	CGA	TRAF6	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_RING	ENSG00000175104		0.458	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	HGNC	protein_coding	OTTHUMT00000389530.1	-	0	39	0	G	NM_145803		36522834	-1	tier1	-	no_errors	ENST00000348124	ensembl	human	known	74_37	nonsense	40.00	36	24	SNP	0.994	A	A	36522834	G	A	36522834	4	1	52	1	0	0	0	0	0	1	0	0	16493	1153	40	1	1360	1	TRAF6	11	36522834	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2845276	36522834	98483682	472	12812											
OR4A47	403253	genome.wustl.edu	37	chr11	48510904	48510904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttattgaaactggtctGcactgacacccatgctattg	9	13	7	12	0	1	2	0	2	1	0	2	2	2	2	2	1	3	2	2	1	3	4	rs572867266		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:48510904G>A	ENST00000446524.1	+	1	636	c.560G>A	c.(559-561)tGc>tAc	p.C187Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AAACTGGTCTGCACTGACACC	0.433																																																	0													161	154	157					11																	48510904		2201	4298	6499	SO:0001583	missense	0			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.560G>A	11.37:g.48510904G>A	ENSP00000412752:p.Cys187Tyr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C187Y	ENST00000446524.1	37	c.560	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	11.83	1.756844	0.31137	.	.	ENSG00000237388	ENST00000446524	T	0.00462	7.26	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.03053	0.0090	H	0.98218	4.175	0.42929	D	0.994315	D	0.89917	1.0	D	0.97110	1.0	T	0.03086	-1.1074	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	187	Q6IF82	O4A47_HUMAN	Y	187	ENSP00000412752:C187Y	ENSP00000412752:C187Y	C	+	2	0	OR4A47	48467480	1.000000	0.71417	0.442000	0.26870	0.093000	0.18481	6.051000	0.71072	2.082000	0.62665	0.205000	0.17691	TGC	OR4A47	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000237388		0.433	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	-	0	56	0	G	NM_001005512		48510904	1	tier1	-	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	15.71	59	11	SNP	0.853	A	A	48510904	G	A	48510904	3	1	52	1	0	0	0	0	1	0	0	0	11081	1319	46	3	562	3	OR4A47	11	48510904	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	11988070	48510904	86495612	473	12813											
OR4C46	119749	genome.wustl.edu	37	chr11	51515970	51515970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggactcatagcttggaggCaaggcacaaagccctctcca	13	6	10	12	0	2	0	1	0	1	0	3	2	2	2	2	4	2	3	2	4	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:51515970C>T	ENST00000328188.1	+	1	689	c.689C>T	c.(688-690)gCa>gTa	p.A230V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGCTTGGAGGCAAGGCACAAA	0.483																																																	0													123	103	110					11																	51515970		2201	4296	6497	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.689C>T	11.37:g.51515970C>T	ENSP00000329056:p.Ala230Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A230V	ENST00000328188.1	37	c.689	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	3.509	-0.100227	0.06967	.	.	ENSG00000185926	ENST00000328188	T	0.00145	8.67	2.47	-3.38	0.04883	GPCR, rhodopsin-like superfamily (1);	0.342138	0.21433	N	0.074615	T	0.00109	0.0003	L	0.28014	0.82	0.09310	N	1	B	0.12630	0.006	B	0.23852	0.049	T	0.41520	-0.9504	10	0.87932	D	0	.	12.436	0.55600	0.0:0.5652:0.4348:0.0	.	230	A6NHA9	O4C46_HUMAN	V	230	ENSP00000329056:A230V	ENSP00000329056:A230V	A	+	2	0	OR4C46	51372546	0.236000	0.23804	0.000000	0.03702	0.029000	0.11900	0.708000	0.25719	-0.426000	0.07360	0.121000	0.15741	GCA	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185926		0.483	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	-	0	128	0	C	NM_001004703		51515970	1	tier1	-	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	11.69	136	18	SNP	0.000	T	T	51515970	C	T	51515970	3	4	52	1	0	0	0	0	1	0	0	0	11090	710	25	3	691	3	OR4C46	11	51515970	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3005066	51515970	83490546	474	12814											
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57087989	57087989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcaggccttggtgcaaaggGaagggggcgcttgctgccac	7	6	17	11	2	0	0	0	0	0	0	0	1	0	1	2	5	3	4	2	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:57087989G>A	ENST00000532437.1	-	2	603	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P98S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	98	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGTGCAAAGGGAAGGGGGCGC	0.642																																																	0													28	33	31					11																	57087989		2200	4296	6496	SO:0001583	missense	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.292C>T	11.37:g.57087989G>A	ENSP00000437271:p.Pro98Ser		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	NULL	p.P98S	ENST00000532437.1	37	c.292	CCDS7951.1	11	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787836	0.31593	.	.	ENSG00000149115	ENST00000358252;ENST00000532437;ENST00000527207	T;T	0.30182	1.54;1.54	4.68	2.72	0.32119	.	0.000000	0.35407	N	0.003239	T	0.14270	0.0345	N	0.19112	0.55	0.25161	N	0.990358	P	0.41041	0.736	B	0.38803	0.282	T	0.07829	-1.0752	10	0.30854	T	0.27	-14.7575	1.8575	0.03182	0.134:0.1954:0.469:0.2016	.	98	Q9C0C2	TB182_HUMAN	S	98	ENSP00000350990:P98S;ENSP00000437271:P98S	ENSP00000350990:P98S	P	-	1	0	TNKS1BP1	56844565	1.000000	0.71417	0.997000	0.53966	0.680000	0.39746	2.942000	0.49018	2.404000	0.81709	0.563000	0.77884	CCC	TNKS1BP1	-	NULL	ENSG00000149115		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	-	0	40	0	G	NM_033396		57087989	-1	tier1	-	no_errors	ENST00000358252	ensembl	human	known	74_37	missense	61.73	31	50	SNP	0.876	A	A	57087989	G	A	57087989	3	1	52	1	0	0	0	0	1	0	0	0	16367	1174	41	3	4933	3	TNKS1BP1	11	57087989	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	5572019	57087989	77918527	475	12815											
PRG2	5553	genome.wustl.edu	37	chr11	57155247	57155247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggtacacagggccacgCagtgaccaccgcgggaccag	9	3	14	15	4	0	1	0	1	0	0	1	2	0	2	4	3	1	2	4	3	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:57155247C>T	ENST00000311862.5	-	5	663	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	PRG2_ENST00000525955.1_Missense_Mutation_p.C197Y|PRG2_ENST00000533605.1_Missense_Mutation_p.C186Y	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	197	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CAGGGCCACGCAGTGACCACC	0.612																																																	0													20	21	21					11																	57155247		2199	4293	6492	SO:0001583	missense	0			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.590G>A	11.37:g.57155247C>T	ENSP00000312134:p.Cys197Tyr		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	p.C197Y	ENST00000311862.5	37	c.590	CCDS7955.1	11	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795303	0.70452	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.61980	0.06;0.06;0.06	4.98	4.98	0.66077	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.51477	D	0.000090	D	0.87055	0.6082	H	0.98738	4.315	0.45477	D	0.998444	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.91663	0.5344	10	0.72032	D	0.01	.	13.746	0.62876	0.0:1.0:0.0:0.0	.	186;197	A6XMW0;P13727	.;PRG2_HUMAN	Y	197;186;197	ENSP00000312134:C197Y;ENSP00000433231:C186Y;ENSP00000433016:C197Y	ENSP00000312134:C197Y	C	-	2	0	PRG2	56911823	0.753000	0.28349	0.824000	0.32777	0.015000	0.08874	3.537000	0.53590	2.287000	0.76781	0.650000	0.86243	TGC	PRG2	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	ENSG00000186652		0.612	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG2	HGNC	protein_coding	OTTHUMT00000392468.1		0	57	0	C	NM_002728		57155247	-1			no_errors	ENST00000311862	ensembl	human	known	74_37	missense	7.89	70	6	SNP	0.955	T	T	57155247	C	T	57155247	3	4	52	1	0	0	0	0	1	0	0	0	12521	710	25	3	86	3	PRG2	11	57155247	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	67258	57155247	77851269	476	12816											
PATL1	219988	genome.wustl.edu	37	chr11	59425146	59425146	+	Frame_Shift_Del	DEL	G	G	-																															ccgatcatcttctggaccctGggggggcctctgaggcaaag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:59425146delG	ENST00000300146.9	-	5	562	c.478delC	c.(478-480)cagfs	p.Q160fs		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	160	Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.			Q -> H (in Ref. 2; BAG54601). {ECO:0000305}.	cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCTGGACCCTGGGGGGGCCTC	0.453																																																	0													66	64	65					11																	59425146		1819	4079	5898	SO:0001589	frameshift_variant	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.478delC	11.37:g.59425146delG	ENSP00000300146:p.Gln160fs		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Frame_Shift_Del	DEL	pfam_Topo_II-assoc_PAT1	p.Q160fs	ENST00000300146.9	37	c.478	CCDS44613.1	11																																																																																			PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.453	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1		0	30	0	G	NM_152716		59425146	-1	tier1		no_errors	ENST00000300146	ensembl	human	known	74_37	frame_shift_del	31.71	28	13	DEL	0.999	-	-	59425146	G	-	59425146	7	5	52	1	0	1	0	1	0	0	0	0	11514	1357	47	0	1894	0	PATL1	11	59425146	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	2269899	59425146	75581370	477	12817											
MS4A6A	64231	genome.wustl.edu	37	chr11	59947419	59947419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagctcaataccatcatgCcacacaagatctggatagtc	14	8	6	13	0	3	1	2	0	1	1	4	2	3	2	3	1	3	1	3	1	5	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:59947419C>G	ENST00000530839.1	-	4	659	c.167G>C	c.(166-168)gGc>gCc	p.G56A	MS4A6A_ENST00000532169.1_Missense_Mutation_p.G56A|MS4A6A_ENST00000528851.1_Missense_Mutation_p.G56A|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G56A|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G84A|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G56A|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G84A|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529906.1_5'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	56						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TACCATCATGCCACACAAGAT	0.448																																																	0													98	90	92					11																	59947419		2201	4295	6496	SO:0001583	missense	0			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.167G>C	11.37:g.59947419C>G	ENSP00000436979:p.Gly56Ala		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.G56A	ENST00000530839.1	37	c.167	CCDS7981.1	11	.	.	.	.	.	.	.	.	.	.	C	0.354	-0.943075	0.02322	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000412309;ENST00000532169;ENST00000534596	T;T;T;T;T;T;T;T	0.16743	3.52;3.52;3.52;3.52;3.52;3.52;3.52;2.32	4.32	2.33	0.28932	.	0.332030	0.30227	N	0.010106	T	0.21022	0.0506	L	0.37561	1.115	0.09310	N	0.999999	D;D;D;D	0.55385	0.964;0.971;0.971;0.964	P;P;P;P	0.57548	0.728;0.823;0.823;0.593	T	0.04115	-1.0976	9	.	.	.	.	6.8925	0.24236	0.1936:0.6022:0.2042:0.0	.	84;84;56;56	F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;M4A6A_HUMAN;.	A	56;56;56;56;84;84;56;84	ENSP00000315878:G56A;ENSP00000431901:G56A;ENSP00000392921:G56A;ENSP00000436979:G56A;ENSP00000435844:G84A;ENSP00000403212:G84A;ENSP00000431266:G56A;ENSP00000433436:G84A	.	G	-	2	0	MS4A6A	59703995	0.003000	0.15002	0.003000	0.11579	0.102000	0.19082	1.092000	0.30927	0.500000	0.27991	0.655000	0.94253	GGC	MS4A6A	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000110077		0.448	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	-	0	45	0	C			59947419	-1	tier1	-	no_errors	ENST00000323961	ensembl	human	known	74_37	missense	41.51	31	22	SNP	0.002	G	G	59947419	C	G	59947419	3	3	52	1	0	0	0	0	1	0	0	0	9902	739	26	5	626	5	MS4A6A	11	59947419	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	522273	59947419	75059097	478	12818											
MS4A6A	64231	genome.wustl.edu	37	chr11	59947431	59947431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatgccacacaagatcTggatagtctgtgggaagaga	13	8	11	9	0	3	2	1	0	2	2	3	5	3	4	2	2	1	0	2	2	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:59947431T>C	ENST00000530839.1	-	4	647	c.155A>G	c.(154-156)cAg>cGg	p.Q52R	MS4A6A_ENST00000532169.1_Missense_Mutation_p.Q52R|MS4A6A_ENST00000528851.1_Missense_Mutation_p.Q52R|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000420732.2_Missense_Mutation_p.Q52R|MS4A6A_ENST00000412309.2_Missense_Mutation_p.Q80R|MS4A6A_ENST00000323961.3_Missense_Mutation_p.Q52R|MS4A6A_ENST00000529054.1_Missense_Mutation_p.Q80R|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529906.1_5'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	52						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACACAAGATCTGGATAGTCTG	0.448																																																	0													92	85	87					11																	59947431		2201	4295	6496	SO:0001583	missense	0			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.155A>G	11.37:g.59947431T>C	ENSP00000436979:p.Gln52Arg		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.Q52R	ENST00000530839.1	37	c.155	CCDS7981.1	11	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849763	0.51270	.	.	ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000412309;ENST00000532169;ENST00000534596	T;T;T;T;T;T;T;T	0.25579	3.16;3.16;3.16;3.16;3.16;3.16;3.16;1.79	4.32	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.52789	0.1756	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.58589	-0.7610	9	.	.	.	.	10.0548	0.42239	0.0:0.0:0.0:1.0	.	80;80;52;52	F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3	.;.;M4A6A_HUMAN;.	R	52;52;52;52;80;80;52;80	ENSP00000315878:Q52R;ENSP00000431901:Q52R;ENSP00000392921:Q52R;ENSP00000436979:Q52R;ENSP00000435844:Q80R;ENSP00000403212:Q80R;ENSP00000431266:Q52R;ENSP00000433436:Q80R	.	Q	-	2	0	MS4A6A	59704007	1.000000	0.71417	0.997000	0.53966	0.389000	0.30415	3.221000	0.51215	1.929000	0.55896	0.533000	0.62120	CAG	MS4A6A	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000110077		0.448	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	-	0	46	0	T			59947431	-1	tier1	-	no_errors	ENST00000323961	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	C	C	59947431	T	C	59947431	3	2	52	1	0	0	0	0	1	0	0	0	9902	1580	55	4	638	4	MS4A6A	11	59947431	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	12	59947431	75059085	479	12819											
CYBASC3	220002	genome.wustl.edu	37	chr11	61124145	61124145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcacatagagcccagggacCccagcagcaggcaggacaag	13	2	13	13	0	0	1	0	0	0	1	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:61124145C>T	ENST00000294072.4	-	3	718	c.41G>A	c.(40-42)gGg>gAg	p.G14E	CYB561A3_ENST00000544118.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000540317.1_Intron|CYB561A3_ENST00000546151.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000426130.2_Missense_Mutation_p.G31E|CYB561A3_ENST00000536915.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000539890.1_Missense_Mutation_p.G14E|CYB561A3_ENST00000447532.2_Missense_Mutation_p.G14E	NM_001161452.1|NM_153611.4	NP_001154924.1|NP_705839.3	Q8NBI2	CYAC3_HUMAN	cytochrome b561 family, member A3	14	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)										GCCCAGGGACCCCAGCAGCAG	0.532																																																	0													149	140	143					11																	61124145		2203	4299	6502	SO:0001583	missense	0			AK024953	CCDS8004.1, CCDS53639.1, CCDS73296.1	11q12.2	2013-03-14	2013-03-14	2013-03-14		ENSG00000162144		"Cytochrome b genes"	23014	protein-coding gene	gene with protein product			"cytochrome b, ascorbate dependent 3"	CYBASC3		23249217	Standard	NM_153611		Approved		uc001nrf.4	Q8NBI2		ENST00000294072.4:c.41G>A	11.37:g.61124145C>T	ENSP00000294072:p.Gly14Glu		B3KPU2|B4DLN9|J3KQH4|Q6PK96	Missense_Mutation	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.G31E	ENST00000294072.4	37	c.92	CCDS8004.1	11	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264656	0.40095	.	.	ENSG00000162144	ENST00000426130;ENST00000294072;ENST00000447532;ENST00000546151;ENST00000544118;ENST00000536915;ENST00000539890;ENST00000542361;ENST00000537364;ENST00000539128;ENST00000545361;ENST00000537680	T;T;T;T;T;T	0.62364	0.03;0.05;0.04;0.05;1.06;1.07	5.38	3.47	0.39725	Cytochrome b561/ferric reductase transmembrane (1);	0.521085	0.21402	N	0.075135	T	0.64951	0.2645	L	0.57536	1.79	0.24359	N	0.994883	P;D;D;P	0.53462	0.933;0.96;0.96;0.933	B;P;P;B	0.48795	0.386;0.504;0.59;0.231	T	0.58498	-0.7626	10	0.29301	T	0.29	-2.1037	15.7705	0.78164	0.0:0.7428:0.2572:0.0	.	31;14;14;14	B4DLN9;F5H0P5;F5H1Q2;Q8NBI2	.;.;.;CYAC3_HUMAN	E	31;14;14;14;14;14;14;14;14;14;14;14	ENSP00000398979:G31E;ENSP00000294072:G14E;ENSP00000389745:G14E;ENSP00000437390:G14E;ENSP00000443321:G14E;ENSP00000438725:G14E	ENSP00000294072:G14E	G	-	2	0	CYBASC3	60880721	0.967000	0.33354	0.058000	0.19502	0.975000	0.68041	2.306000	0.43673	0.604000	0.29930	0.561000	0.74099	GGG	CYB561A3	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000162144		0.532	CYB561A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB561A3	HGNC	protein_coding	OTTHUMT00000398714.2	-	0	32	0	C	NM_153611		61124145	-1	tier1	-	no_errors	ENST00000426130	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.555	T	T	61124145	C	T	61124145	3	4	52	1	0	0	0	0	1	0	0	0	4141	623	22	3	707	3	CYBASC3	11	61124145	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1176714	61124145	73882371	480	12820											
SF1	7536	genome.wustl.edu	37	chr11	64536544	64536545	+	Frame_Shift_Del	DEL	AC	AC	-																															ccagcccctccacacttggtAcacactgtggtgttggtaat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:64536544_64536545delAC	ENST00000377390.3	-	8	1173_1174	c.836_837delGT	c.(835-837)tgtfs	p.C279fs	SF1_ENST00000377387.1_Frame_Shift_Del_p.C404fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.C279fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.C164fs|SF1_ENST00000433274.2_Frame_Shift_Del_p.C253fs|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Frame_Shift_Del_p.C279fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.C279fs	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	279					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CACACTTGGTACACACTGTGGT	0.51																																																	0																																										SO:0001589	frameshift_variant	0			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"Zinc fingers, CCHC domain containing"	12950	protein-coding gene	gene with protein product		601516	"zinc finger protein 162"	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.836_837delGT	11.37:g.64536548_64536549delAC	ENSP00000366607:p.Cys279fs		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.C279fs	ENST00000377390.3	37	c.837_836	CCDS31599.1	11																																																																																			SF1	-	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	ENSG00000168066		0.51	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1		0	38	0	AC	NM_004630		64536545	-1	tier1		no_errors	ENST00000377390	ensembl	human	known	74_37	frame_shift_del	30.95	58	26	DEL	0.968:1.000	-	-	64536545	AC	-	64536544	7	5	52	1	0	1	0	1	0	0	0	0	14190	389	14	0	1244	0	SF1	11	64536544	Frame_Shift_Del	DEL	AC	TCGA-L5-A43J-01A-12D-A247-09	3412399	64536544	70469972	481	12821											
MAP3K11	4296	genome.wustl.edu	37	chr11	65374944	65374944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgtgaccgctgctcgCgcgccgctcgcgtcagctcc	2	7	12	20	8	1	1	1	1	0	0	4	1	2	1	5	0	2	4	5	0	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:65374944C>T	ENST00000530153.1	-	5	1036	c.515G>A	c.(514-516)cGc>cAc	p.R172H	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R429H|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CCGCTGCTCGCGCGCCGCTCG	0.711																																																	0													8	9	9					11																	65374944		2046	4093	6139	SO:0001583	missense	0				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.515G>A	11.37:g.65374944C>T	ENSP00000433886:p.Arg172His			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.R429H	ENST00000530153.1	37	c.1286		11	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832407	0.50845	.	.	ENSG00000173327	ENST00000309100;ENST00000530153	T;T	0.75477	-0.81;-0.94	4.61	4.61	0.57282	.	0.337351	0.28865	N	0.013888	T	0.71400	0.3335	L	0.29908	0.895	0.37201	D	0.904392	D	0.63046	0.992	P	0.55222	0.771	T	0.73701	-0.3900	10	0.39692	T	0.17	.	10.362	0.44001	0.1958:0.8042:0.0:0.0	.	429	Q16584	M3K11_HUMAN	H	429;172	ENSP00000309597:R429H;ENSP00000433886:R172H	ENSP00000309597:R429H	R	-	2	0	MAP3K11	65131520	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	4.138000	0.58017	2.550000	0.86006	0.491000	0.48974	CGC	MAP3K11	-	pirsf_MAPKKK9/10/11	ENSG00000173327		0.711	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390233.2		0	10	0	C			65374944	-1			no_errors	ENST00000309100	ensembl	human	known	74_37	missense	10.00	54	6	SNP	0.998	T	T	65374944	C	T	65374944	3	4	52	1	0	0	0	0	1	0	0	0	9283	768	27	1	1281	1	MAP3K11	11	65374944	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	838400	65374944	69631572	482	12822											
SF3B2	10992	genome.wustl.edu	37	chr11	65827296	65827296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgcacgatgtgacagCgcaggaccctaagctcttgg	10	7	14	10	2	1	2	0	1	1	1	1	5	1	3	1	3	3	3	1	3	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:65827296C>T	ENST00000322535.6	+	13	1494	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	SF3B2_ENST00000528302.1_Missense_Mutation_p.A465V	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	482					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GATGTGACAGCGCAGGACCCT	0.562																																																	0													103	84	90					11																	65827296		2201	4295	6496	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1445C>T	11.37:g.65827296C>T	ENSP00000318861:p.Ala482Val		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.A482V	ENST00000322535.6	37	c.1445	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.570422	0.96540	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.96	0.96718	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	D	0.85279	0.5660	H	0.94423	3.535	0.80722	D	1	D	0.62365	0.991	P	0.58721	0.844	D	0.88685	0.3205	9	0.72032	D	0.01	-21.0026	17.913	0.88940	0.0:1.0:0.0:0.0	.	482	Q13435	SF3B2_HUMAN	V	465;482;386	.	ENSP00000318861:A482V	A	+	2	0	SF3B2	65583872	1.000000	0.71417	0.343000	0.25615	0.956000	0.61745	7.353000	0.79414	2.831000	0.97527	0.650000	0.86243	GCG	SF3B2	-	pfam_DUF382	ENSG00000087365		0.562	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	-	0	34	0	C			65827296	1	tier1	-	no_errors	ENST00000322535	ensembl	human	known	74_37	missense	11.61	99	13	SNP	0.999	T	T	65827296	C	T	65827296	3	4	52	1	0	0	0	0	1	0	0	0	14196	768	27	1	1495	1	SF3B2	11	65827296	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	452352	65827296	69179220	483	12823											
TBX10	347853	genome.wustl.edu	37	chr11	67399149	67399149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccagctgggagaggcAggcctccttgatccctatca	8	7	11	15	0	1	2	1	1	0	1	3	3	3	2	5	3	2	2	5	3	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:67399149A>G	ENST00000335385.3	-	8	1172	c.1085T>C	c.(1084-1086)cTg>cCg	p.L362P	NUDT8_ENST00000376693.2_5'Flank|NUDT8_ENST00000301490.4_5'Flank	NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	362					anatomical structure morphogenesis (GO:0009653)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|lung(4)|ovary(1)	7						TGGGAGAGGCAGGCCTCCTTG	0.672																																																	0													18	16	17					11																	67399149		2193	4287	6480	SO:0001583	missense	0			AH006177	CCDS31621.1	11q13.2	2005-10-11	2004-10-05		ENSG00000167800	ENSG00000167800		"T-boxes"	11593	protein-coding gene	gene with protein product		604648	"T-box 7"	TBX7		9545502	Standard	NM_005995		Approved	TBX13	uc001omp.3	O75333	OTTHUMG00000167291	ENST00000335385.3:c.1085T>C	11.37:g.67399149A>G	ENSP00000335191:p.Leu362Pro		Q14D64|Q86XS3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L362P	ENST00000335385.3	37	c.1085	CCDS31621.1	11	.	.	.	.	.	.	.	.	.	.	A	8.320	0.824012	0.16678	.	.	ENSG00000167800	ENST00000335385	D	0.87256	-2.23	4.1	0.207	0.15214	.	.	.	.	.	T	0.71904	0.3395	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.59947	-0.7358	9	0.51188	T	0.08	.	2.3445	0.04268	0.5242:0.0:0.2599:0.2159	.	362	O75333	TBX10_HUMAN	P	362	ENSP00000335191:L362P	ENSP00000335191:L362P	L	-	2	0	TBX10	67155725	0.013000	0.17824	0.145000	0.22337	0.617000	0.37484	0.594000	0.24014	0.471000	0.27319	0.454000	0.30748	CTG	TBX10	-	NULL	ENSG00000167800		0.672	TBX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX10	HGNC	protein_coding	OTTHUMT00000394034.1	-	0	40	0	A	NM_005995		67399149	-1	tier1	-	no_errors	ENST00000335385	ensembl	human	known	74_37	missense	11.33	180	23	SNP	0.006	G	G	67399149	A	G	67399149	3	3	52	1	0	0	0	0	1	0	0	0	15698	188	7	4	76	4	TBX10	11	67399149	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1571853	67399149	67607367	484	12824											
UNC93B1	81622	genome.wustl.edu	37	chr11	67766770	67766770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactcatggtacttctgcGccatcctggaccacaaagga	11	9	9	12	1	2	0	1	0	1	0	3	2	3	2	3	3	3	2	3	3	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:67766770G>A	ENST00000227471.2	-	5	639	c.560C>T	c.(559-561)gCg>gTg	p.A187V	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	187					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											GTACTTCTGCGCCATCCTGGA	0.637																																																	0													33	38	36					11																	67766770		2046	4181	6227	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.560C>T	11.37:g.67766770G>A	ENSP00000227471:p.Ala187Val		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A187V	ENST00000227471.2	37	c.560		11	.	.	.	.	.	.	.	.	.	.	.	18.72	3.684507	0.68157	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T;T	0.39787	1.06;1.06	4.89	4.89	0.63831	.	0.303789	0.35291	N	0.003312	T	0.54287	0.1849	.	.	.	0.45648	D	0.998574	D	0.54397	0.966	P	0.51355	0.667	T	0.60831	-0.7185	9	0.72032	D	0.01	-9.7883	16.9872	0.86342	0.0:0.0:1.0:0.0	.	187	Q9H1C4	UN93B_HUMAN	V	187;116	ENSP00000227471:A187V;ENSP00000437195:A116V	ENSP00000227471:A187V	A	-	2	0	UNC93B1	67523346	1.000000	0.71417	0.904000	0.35570	0.361000	0.29550	8.699000	0.91316	2.413000	0.81919	0.561000	0.74099	GCG	UNC93B1	-	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	ENSG00000110057		0.637	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		-	0	37	0	G	NM_030930		67766770	-1	tier1	-	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	27.40	53	20	SNP	1.000	A	A	67766770	G	A	67766770	3	1	52	1	0	0	0	0	1	0	0	0	17046	1087	38	1	1260	1	UNC93B1	11	67766770	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	367621	67766770	67239746	485	12825											
MTL5	9633	genome.wustl.edu	37	chr11	68517736	68517736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaccgccgggctgcggtgCgcgggtagcagcgaggacag	8	3	18	12	6	0	0	0	0	0	0	0	2	0	1	2	4	5	3	2	4	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:68517736C>T	ENST00000255087.5	-	2	576	c.393G>A	c.(391-393)gcG>gcA	p.A131A	MTL5_ENST00000443940.2_Silent_p.A131A|MTL5_ENST00000540869.1_5'Flank|MTL5_ENST00000544963.1_Silent_p.A131A	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	131					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GGCTGCGGTGCGCGGGTAGCA	0.721																																																	0													8	10	9					11																	68517736		2165	4232	6397	SO:0001819	synonymous_variant	0			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"CXC domain containing 2"	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.393G>A	11.37:g.68517736C>T			A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	pfam_CRC,superfamily_Thionin	p.A131	ENST00000255087.5	37	c.393	CCDS8184.1	11																																																																																			MTL5	-	NULL	ENSG00000132749		0.721	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	-	0	28	0	C	NM_004923		68517736	-1	tier1	-	no_errors	ENST00000255087	ensembl	human	known	74_37	silent	18.75	65	15	SNP	0.015	T	T	68517736	C	T	68517736	2	4	52	1	0	0	0	0	0	0	0	1	9974	755	27	1		1	MTL5	11	68517736	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	750966	68517736	66488780	486	12826											
C11orf51	25906	genome.wustl.edu	37	chr11	71822269	71822269	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacagggtcgatccagattAaaccacagagtctcagtcac	14	7	8	12	1	2	2	2	0	1	2	5	3	3	2	2	1	1	0	2	1	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:71822269A>G	ENST00000227618.4	-	3	279	c.54T>C	c.(52-54)ttT>ttC	p.F18F	ANAPC15_ENST00000538919.1_Silent_p.F18F|ANAPC15_ENST00000535503.1_Silent_p.F18F|ANAPC15_ENST00000502597.2_Intron|ANAPC15_ENST00000543050.1_Silent_p.F18F|ANAPC15_ENST00000542531.1_Silent_p.F18F|ANAPC15_ENST00000543015.1_5'Flank|ANAPC15_ENST00000538393.1_Silent_p.F18F|ANAPC15_ENST00000545680.1_Silent_p.F18F|ANAPC15_ENST00000545944.1_Silent_p.F18F|ANAPC15_ENST00000535234.1_Silent_p.F18F|ANAPC15_ENST00000543587.1_Silent_p.F18F	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15	18					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											GATCCAGATTAAACCACAGAG	0.527																																																	0													133	113	120					11																	71822269		2200	4293	6493	SO:0001819	synonymous_variant	0			AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"Anaphase promoting complex subunits"	24531	protein-coding gene	gene with protein product		614717	"chromosome 11 open reading frame 51"	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865	ENST00000227618.4:c.54T>C	11.37:g.71822269A>G			G3V1Q3|Q9CXK2|Q9Y269	Silent	SNP	NULL	p.F18	ENST00000227618.4	37	c.54	CCDS8210.1	11																																																																																			ANAPC15	-	NULL	ENSG00000110200		0.527	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC15	HGNC	protein_coding	OTTHUMT00000396695.1	-	0	57	0	A	NM_014042		71822269	-1	tier1	-	no_errors	ENST00000227618	ensembl	human	known	74_37	silent	32.99	65	32	SNP	1.000	G	G	71822269	A	G	71822269	2	3	52	1	0	0	0	0	0	0	0	1	1651	359	13	4		4	C11orf51	11	71822269	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3304533	71822269	63184247	487	12827											
FOLR1	2348	genome.wustl.edu	37	chr11	71906681	71906681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagagctggcgcaaagagcGggtactgaacgtgcccctgt	9	7	14	11	3	1	3	1	1	0	2	1	3	1	3	2	2	5	3	2	2	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:71906681G>T	ENST00000393679.1	+	4	819	c.383G>T	c.(382-384)cGg>cTg	p.R128L	RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.R128L|FOLR1_ENST00000393681.2_Missense_Mutation_p.R128L|FOLR1_ENST00000312293.4_Missense_Mutation_p.R128L			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	128	Folate binding.				cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CGCAAAGAGCGGGTACTGAAC	0.537																																																	0													72	64	67					11																	71906681		2200	4293	6493	SO:0001583	missense	0			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.383G>T	11.37:g.71906681G>T	ENSP00000377284:p.Arg128Leu		Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.R128L	ENST00000393679.1	37	c.383	CCDS8211.1	11	.	.	.	.	.	.	.	.	.	.	g	19.68	3.873450	0.72180	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.45	5.45	0.79879	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	M	0.93328	3.405	0.58432	D	0.999998	D	0.76494	0.999	D	0.76575	0.988	D	0.92785	0.6243	10	0.62326	D	0.03	-21.4184	18.2226	0.89906	0.0:0.0:1.0:0.0	.	128	P15328	FOLR1_HUMAN	L	128	ENSP00000308137:R128L;ENSP00000377286:R128L;ENSP00000377284:R128L;ENSP00000377281:R128L	ENSP00000308137:R128L	R	+	2	0	FOLR1	71584329	1.000000	0.71417	0.948000	0.38648	0.204000	0.24138	8.983000	0.93477	2.700000	0.92200	0.563000	0.77884	CGG	FOLR1	-	pfam_Folate_rcpt-like	ENSG00000110195		0.537	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	-	0	80	0	G	NM_016725		71906681	1	tier1	-	no_errors	ENST00000312293	ensembl	human	known	74_37	missense	42.98	69	52	SNP	1.000	T	T	71906681	G	T	71906681	3	4	52	1	0	0	0	0	1	0	0	0	6003	1116	39	2	393	2	FOLR1	11	71906681	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	84412	71906681	63099835	488	12828											
CHRDL2	25884	genome.wustl.edu	37	chr11	74415621	74415621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatgaagctcagaggggCgctgaggccagtgggggctg	8	5	21	7	1	1	3	1	2	0	1	1	4	1	4	1	6	1	3	1	6	1	0	rs200667288		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:74415621C>T	ENST00000376332.3	-	7	1157	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	CHRDL2_ENST00000263671.5_Missense_Mutation_p.A221T|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	221					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCAGAGGGGCGCTGAGGCCA	0.577													C|||	1	0.000199681	0	0	5008	,	,		14246	0		0	False		,,,				2504	0.001																0													54	53	53					11																	74415621		2200	4293	6493	SO:0001583	missense	0			AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.661G>A	11.37:g.74415621C>T	ENSP00000365510:p.Ala221Thr		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.A221T	ENST00000376332.3	37	c.661		11	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596523	0.46318	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.63096	0.91;0.91;-0.02	5.39	-1.16	0.09678	.	0.391849	0.29021	N	0.013399	T	0.42494	0.1205	L	0.46157	1.445	0.26284	N	0.97823	B;B;P	0.36438	0.043;0.287;0.553	B;B;B	0.30401	0.012;0.054;0.115	T	0.34601	-0.9822	10	0.17832	T	0.49	-6.1376	6.6995	0.23217	0.357:0.4718:0.1712:0.0	.	221;221;221	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	T	221;221;107;105;221	ENSP00000263671:A221T;ENSP00000365510:A221T;ENSP00000431380:A221T	ENSP00000263671:A221T	A	-	1	0	CHRDL2	74093269	0.955000	0.32602	0.994000	0.49952	0.911000	0.54048	0.164000	0.16542	-0.222000	0.09958	0.462000	0.41574	GCC	CHRDL2	-	NULL	ENSG00000054938		0.577	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	HGNC	protein_coding	OTTHUMT00000385391.1	-	0	26	0	C			74415621	-1	tier1	rs200667288	no_errors	ENST00000263671	ensembl	human	known	74_37	missense	35.82	43	24	SNP	0.997	T	T	74415621	C	T	74415621	3	4	52	1	0	0	0	0	1	0	0	0	3381	768	27	1	718	1	CHRDL2	11	74415621	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2508940	74415621	60590895	489	12829											
C11orf30	56946	genome.wustl.edu	37	chr11	76256924	76256924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcccacagttacaaagatAactggtggcagttctgtgcc	10	10	9	12	0	1	1	0	0	1	1	2	1	2	1	3	2	3	3	3	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:76256924A>G	ENST00000529032.1	+	19	3357	c.3357A>G	c.(3355-3357)atA>atG	p.I1119M	C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000533248.1_Missense_Mutation_p.I1028M|C11orf30_ENST00000525038.1_Missense_Mutation_p.I1120M|C11orf30_ENST00000524767.1_Missense_Mutation_p.I1134M|C11orf30_ENST00000525919.1_Missense_Mutation_p.I1120M|C11orf30_ENST00000524490.1_Missense_Mutation_p.I1021M|C11orf30_ENST00000334736.3_Missense_Mutation_p.I1119M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1119					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TTACAAAGATAACTGGTGGCA	0.453																																																	0													80	78	79					11																	76256924		2200	4292	6492	SO:0001583	missense	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3357A>G	11.37:g.76256924A>G	ENSP00000432327:p.Ile1119Met		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.I1119M	ENST00000529032.1	37	c.3357	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983136	0.34942	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.5	5.5	0.81552	.	0.435243	0.28268	N	0.015970	T	0.35566	0.0936	N	0.08118	0	0.80722	D	1	D;B;B;B;B;B	0.56521	0.976;0.255;0.255;0.255;0.255;0.255	P;B;B;B;B;B	0.50570	0.644;0.048;0.048;0.044;0.03;0.044	T	0.23511	-1.0186	9	0.40728	T	0.16	-9.0043	10.8759	0.46911	0.9274:0.0:0.0726:0.0	.	1028;1120;1134;1120;1021;1119	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	M	1021;1119;801;1134;1028;1120;1120;1119	.	ENSP00000334130:I1119M	I	+	3	3	C11orf30	75934572	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.726000	0.47302	2.299000	0.77371	0.528000	0.53228	ATA	C11orf30	-	NULL	ENSG00000158636		0.453	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	-	0	32	0	A	NM_020193		76256924	1	tier1	-	no_errors	ENST00000334736	ensembl	human	known	74_37	missense	41.67	21	15	SNP	1.000	G	G	76256924	A	G	76256924	3	3	52	1	0	0	0	0	1	0	0	0	1641	352	13	4	3431	4	C11orf30	11	76256924	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1841303	76256924	58749592	490	12830											
LRRC32	2615	genome.wustl.edu	37	chr11	76371703	76371703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagagctgggaaagggggcGgccgctggcattcccgctgg	7	5	18	11	3	0	1	0	0	0	1	1	2	1	2	2	6	1	4	2	6	2	1	rs143082901		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:76371703G>A	ENST00000407242.2	-	3	1176	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R312C|LRRC32_ENST00000260061.5_Missense_Mutation_p.R312C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	312					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAAAGGGGGCGGCCGCTGGCA	0.622													G|||	1	0.000199681	0	0	5008	,	,		17253	0		0	False		,,,				2504	0.001																0								G	CYS/ARG,CYS/ARG	0,4400		0,0,2200	19	23	22		934,934	-0.1	0	11	dbSNP_134	22	4,8580		0,4,4288	yes	missense,missense	LRRC32	NM_001128922.1,NM_005512.2	180,180	0,4,6488	AA,AG,GG		0.0466,0.0,0.0308	benign,benign	312/663,312/663	76371703	4,12980	2200	4292	6492	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.934C>T	11.37:g.76371703G>A	ENSP00000384126:p.Arg312Cys		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.R312C	ENST00000407242.2	37	c.934	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	G	0.816	-0.750423	0.03041	0.0	4.66E-4	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.04551	3.6;3.6;3.6	4.55	-0.0695	0.13751	.	1.521110	0.03962	N	0.290140	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.30439	0.279	B	0.12156	0.007	T	0.39921	-0.9590	10	0.35671	T	0.21	.	4.2556	0.10715	0.0763:0.2249:0.4468:0.252	.	312	Q14392	LRC32_HUMAN	C	312	ENSP00000260061:R312C;ENSP00000384126:R312C;ENSP00000385766:R312C	ENSP00000260061:R312C	R	-	1	0	LRRC32	76049351	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-0.254000	0.08781	0.152000	0.19188	0.555000	0.69702	CGC	LRRC32	-	NULL	ENSG00000137507		0.622	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	33	0	G	NM_005512		76371703	-1	tier1	rs143082901	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	43.84	41	32	SNP	0.000	A	A	76371703	G	A	76371703	3	1	52	1	0	0	0	0	1	0	0	0	9022	1116	39	1	1058	1	LRRC32	11	76371703	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	114779	76371703	58634813	491	12831											
MYO7A	4647	genome.wustl.edu	37	chr11	76901898	76901898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgggttctccctctacAttgccctgtttgacaaggta	6	14	10	11	1	2	1	0	1	2	0	4	1	2	1	2	3	2	4	2	3	3	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:76901898A>G	ENST00000409709.3	+	30	4179	c.3907A>G	c.(3907-3909)Att>Gtt	p.I1303V	MYO7A_ENST00000409619.2_Missense_Mutation_p.I1292V|MYO7A_ENST00000458637.2_Missense_Mutation_p.I1303V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1303	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCCTCTACATTGCCCTGTT	0.642																																																	0													46	55	52					11																	76901898		2046	4178	6224	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3907A>G	11.37:g.76901898A>G	ENSP00000386331:p.Ile1303Val		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.I1303V	ENST00000409709.3	37	c.3907	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876456	0.51801	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	4.97	4.97	0.65823	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	L	0.52011	1.625	0.80722	D	1	P;P;P	0.47191	0.891;0.638;0.891	P;B;P	0.61874	0.836;0.421;0.895	T	0.78986	-0.1987	10	0.32370	T	0.25	.	14.6351	0.68682	1.0:0.0:0.0:0.0	.	1292;1303;1303	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	V	1303;1303;1292;514;1302;1272;1179;484	ENSP00000386331:I1303V;ENSP00000392185:I1303V;ENSP00000386635:I1292V;ENSP00000417017:I484V	ENSP00000345075:I1179V	I	+	1	0	MYO7A	76579546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.172000	0.77604	1.856000	0.53863	0.472000	0.43445	ATT	MYO7A	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000137474		0.642	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	23	0	A	NM_000260		76901898	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	37.29	37	22	SNP	1.000	G	G	76901898	A	G	76901898	3	3	52	1	0	0	0	0	1	0	0	0	10120	217	8	4	4055	4	MYO7A	11	76901898	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	530195	76901898	58104618	492	12832											
USP35	57558	genome.wustl.edu	37	chr11	77911710	77911710	+	Frame_Shift_Del	DEL	C	C	-																															ccacagctcctccctcacatCccccccatggtggcctctct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:77911710delC	ENST00000529308.1	+	6	1314	c.1053delC	c.(1051-1053)atcfs	p.I351fs	USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Frame_Shift_Del_p.I82fs	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	351					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCCTCACATCCCCCCCATGG	0.657																																																	0										2,3896		1,0,1948	43	49	47			4.8	1	11		48	28,7934		13,2,3966	no	frameshift	USP35	NM_020798.2		14,2,5914	A1A1,A1R,RR		0.3517,0.0513,0.253			77911710	30,11830	2066	4174	6240	SO:0001589	frameshift_variant	0			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"Ubiquitin-specific peptidases"	20061	protein-coding gene	gene with protein product			"ubiquitin specific protease 35"			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1053delC	11.37:g.77911710delC	ENSP00000431876:p.Ile351fs			Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.M354fs	ENST00000529308.1	37	c.1053	CCDS41693.1	11																																																																																			USP35	-	superfamily_ARM-type_fold	ENSG00000118369		0.657	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1		0	34	0	C	XM_290527		77911710	1	tier1		no_errors	ENST00000529308	ensembl	human	known	74_37	frame_shift_del	48.05	40	37	DEL	0.969	-	-	77911710	C	-	77911710	7	5	52	1	0	1	0	1	0	0	0	0	17115	845	30	0	1071	0	USP35	11	77911710	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	1009812	77911710	57094806	493	12833											
ANKRD42	338699	genome.wustl.edu	37	chr11	82935967	82935967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagaatgagcagtgcgacGcaagttttaaaagctttcaa	15	10	10	6	2	1	2	1	1	0	1	1	3	1	2	0	0	3	5	0	0	6	4	rs145591736		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:82935967G>A	ENST00000393392.2	+	6	735	c.573G>A	c.(571-573)acG>acA	p.T191T	ANKRD42_ENST00000531895.1_Silent_p.T219T|ANKRD42_ENST00000533342.1_Silent_p.T219T|ANKRD42_ENST00000260047.6_Silent_p.T218T	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	191					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.T191T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCAGTGCGACGCAAGTTTTAA	0.393													G|||	1	0.000199681	8e-04	0	5008	,	,		14204	0		0	False		,,,				2504	0																2	Substitution - coding silent(2)	large_intestine(1)|lung(1)						G		1,4405	2.1+/-5.4	0,1,2202	94	96	96		573	0.5	0.6	11	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	ANKRD42	NM_182603.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		191/390	82935967	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.573G>A	11.37:g.82935967G>A			Q49A49	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T191	ENST00000393392.2	37	c.573	CCDS8265.1	11																																																																																			ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.393	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	-	0	29	0	G	NM_182603		82935967	1	tier1	rs145591736	no_errors	ENST00000393392	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.074	A	A	82935967	G	A	82935967	2	1	52	1	0	0	0	0	0	0	0	1	670	1074	38	1		1	ANKRD42	11	82935967	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	5024257	82935967	52070549	494	12834											
DLG2	1740	genome.wustl.edu	37	chr11	84996271	84996271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtagtatacctctgaaGatttttgaagtctgtcatgg	10	16	9	6	0	4	3	2	2	2	1	4	3	4	3	1	1	1	2	1	1	5	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:84996271G>A	ENST00000376104.2	-	4	490	c.179C>T	c.(178-180)tCt>tTt	p.S60F	DLG2_ENST00000543673.1_Missense_Mutation_p.S60F	NM_001142699.1	NP_001136171.1	Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACCTCTGAAGATTTTTGAAG	0.368																																																	0													194	174	180					11																	84996271		1568	3581	5149	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376104.2:c.179C>T	11.37:g.84996271G>A	ENSP00000365272:p.Ser60Phe		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S60F	ENST00000376104.2	37	c.179	CCDS44690.1	11	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674250	0.29693	.	.	ENSG00000150672	ENST00000376104;ENST00000543673;ENST00000546021	T;T	0.16196	2.36;2.36	5.89	0.562	0.17290	.	1.365360	0.04917	N	0.454271	T	0.14313	0.0346	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31971	-0.9924	9	.	.	.	.	2.6056	0.04878	0.2063:0.2257:0.4522:0.1158	.	60	Q15700-2	.	F	60	ENSP00000365272:S60F;ENSP00000441994:S60F	.	S	-	2	0	DLG2	84673919	0.073000	0.21202	0.000000	0.03702	0.185000	0.23345	0.551000	0.23361	0.057000	0.16193	-0.165000	0.13383	TCT	DLG2	-	pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.368	DLG2-003	KNOWN	basic|CCDS	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259245.3	-	0	57	0	G	NM_001364		84996271	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	41.11	53	37	SNP	0.001	A	A	84996271	G	A	84996271	3	1	52	1	0	0	0	0	1	0	0	0	4569	942	33	3	3053	3	DLG2	11	84996271	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2060304	84996271	50010245	495	12835											
MED17	9440	genome.wustl.edu	37	chr11	93521196	93521196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttcagccttccctttggCcttgggactcagtgaggaac	8	12	10	11	0	2	1	2	1	0	0	3	3	3	3	3	3	2	0	3	3	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:93521196C>T	ENST00000251871.3	+	2	567	c.280C>T	c.(280-282)Cct>Tct	p.P94S	MED17_ENST00000530819.1_Missense_Mutation_p.P94S	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	94					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCCCTTTGGCCTTGGGACTC	0.383																																																	0													134	135	134					11																	93521196		2201	4298	6499	SO:0001583	missense	0			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)", "cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.280C>T	11.37:g.93521196C>T	ENSP00000251871:p.Pro94Ser		B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	pfam_Mediator_Med17	p.P94S	ENST00000251871.3	37	c.280	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.210669	0.95069	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359	T;T;T	0.69435	-0.4;0.17;0.26	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	M	0.73217	2.22	0.80722	D	1	P;D	0.63046	0.924;0.992	P;P	0.57468	0.821;0.813	T	0.80216	-0.1474	10	0.59425	D	0.04	-17.7139	19.7167	0.96124	0.0:1.0:0.0:0.0	.	94;94	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	S	94;94;64;94	ENSP00000251871:P94S;ENSP00000434459:P94S;ENSP00000431524:P94S	ENSP00000251871:P94S	P	+	1	0	MED17	93160844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.706000	0.84615	2.673000	0.90976	0.650000	0.86243	CCT	MED17	-	pfam_Mediator_Med17	ENSG00000042429		0.383	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	-	0	57	0	C	NM_004268		93521196	1	tier1	-	no_errors	ENST00000251871	ensembl	human	known	74_37	missense	40.00	30	20	SNP	1.000	T	T	93521196	C	T	93521196	3	4	52	1	0	0	0	0	1	0	0	0	9473	739	26	3	286	3	MED17	11	93521196	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	8524925	93521196	41485320	496	12836											
HEPHL1	341208	genome.wustl.edu	37	chr11	93796775	93796775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccggtgagagaagaatatGcacctactccagccgatgcc	11	6	12	12	2	0	3	0	1	0	2	1	5	1	3	5	2	4	1	5	2	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:93796775G>A	ENST00000315765.9	+	3	525	c.517G>A	c.(517-519)Gca>Aca	p.A173T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	173	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGAAGAATATGCACCTACTCC	0.532																																																	0													71	74	73					11																	93796775		1961	4160	6121	SO:0001583	missense	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.517G>A	11.37:g.93796775G>A	ENSP00000313699:p.Ala173Thr		Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.A173T	ENST00000315765.9	37	c.517	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325991	0.81580	.	.	ENSG00000181333	ENST00000315765	D	0.98747	-5.11	5.42	4.51	0.55191	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.051039	0.85682	D	0.000000	D	0.98560	0.9519	M	0.70595	2.14	0.42896	D	0.994218	D	0.56746	0.977	P	0.62560	0.904	D	0.98742	1.0717	10	0.54805	T	0.06	.	9.9538	0.41655	0.0738:0.0:0.7804:0.1457	.	173	Q6MZM0	HPHL1_HUMAN	T	173	ENSP00000313699:A173T	ENSP00000313699:A173T	A	+	1	0	HEPHL1	93436423	1.000000	0.71417	0.197000	0.23402	0.594000	0.36715	6.279000	0.72620	1.301000	0.44836	0.655000	0.94253	GCA	HEPHL1	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000181333		0.532	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	-	0	38	0	G	XM_291947		93796775	1	tier1	-	no_errors	ENST00000315765	ensembl	human	known	74_37	missense	31.76	57	27	SNP	0.999	A	A	93796775	G	A	93796775	3	1	52	1	0	0	0	0	1	0	0	0	7082	1319	46	3	527	3	HEPHL1	11	93796775	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	275579	93796775	41209741	497	12837											
CCDC82	79780	genome.wustl.edu	37	chr11	96117597	96117597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttcatatgttgaaccGttgccagagttaatgagaca	11	14	8	8	1	3	3	1	2	2	2	3	4	3	3	2	0	2	3	2	0	3	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:96117597G>A	ENST00000278520.5	-	3	743	c.315C>T	c.(313-315)aaC>aaT	p.N105N	CCDC82_ENST00000542662.1_Silent_p.N105N|CCDC82_ENST00000423339.2_Silent_p.N105N|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	105								p.N105N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATGTTGAACCGTTGCCAGAGT	0.338																																																	1	Substitution - coding silent(1)	endometrium(1)											194	185	188					11																	96117597		2201	4297	6498	SO:0001819	synonymous_variant	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.315C>T	11.37:g.96117597G>A			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	NULL	p.N105	ENST00000278520.5	37	c.315	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.338	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	-	0	88	0	G	NM_024725		96117597	-1	tier1	-	no_errors	ENST00000278520	ensembl	human	known	74_37	silent	41.72	88	63	SNP	0.000	A	A	96117597	G	A	96117597	2	1	52	1	0	0	0	0	0	0	0	1	2863	1136	40	1		1	CCDC82	11	96117597	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2320822	96117597	38888919	498	12838											
ACAT1	38	genome.wustl.edu	37	chr11	108004588	108004588	+	Frame_Shift_Del	DEL	T	T	-																															acaagaacacccattggatcTtttttaggcagcctttcctt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:108004588delT	ENST00000265838.4	+	3	253	c.162delT	c.(160-162)tctfs	p.S54fs	ACAT1_ENST00000299355.6_Frame_Shift_Del_p.S54fs	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	54					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	CCATTGGATCTTTTTTAGGCA	0.408																																																	0													117	107	111					11																	108004588		2201	4298	6499	SO:0001589	frameshift_variant	0			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.162delT	11.37:g.108004588delT	ENSP00000265838:p.Ser54fs		B2R6H1|G3XAB4|Q96FG8	Frame_Shift_Del	DEL	pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.L56fs	ENST00000265838.4	37	c.162	CCDS8339.1	11																																																																																			ACAT1	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000075239		0.408	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	HGNC	protein_coding	OTTHUMT00000389474.1		0	69	0	T	NM_000019		108004588	1	tier1		no_errors	ENST00000265838	ensembl	human	known	74_37	frame_shift_del	19.59	78	19	DEL	1.000	-	-	108004588	T	-	108004588	7	5	52	1	0	1	0	1	0	0	0	0	121	1596	56	0	172	0	ACAT1	11	108004588	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	11886991	108004588	27001928	499	12839											
ARHGAP20	57569	genome.wustl.edu	37	chr11	110451806	110451806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctggtcaagatcatagtCactgagggttaagacagagt	12	9	14	6	0	3	4	3	1	0	3	3	4	3	4	0	3	0	2	0	3	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:110451806C>T	ENST00000260283.4	-	16	2148	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D596N|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D596N|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D165N|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D586N|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D599N|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D586N	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	622					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGATCATAGTCACTGAGGGTT	0.468																																																	0													104	97	99					11																	110451806		2201	4298	6499	SO:0001583	missense	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1864G>A	11.37:g.110451806C>T	ENSP00000260283:p.Asp622Asn		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.D622N	ENST00000260283.4	37	c.1864	CCDS31673.1	11	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428853	0.62844	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.16597	2.38;2.39;2.33;2.38;2.39;2.39;2.39	5.63	5.63	0.86233	.	0.062767	0.64402	D	0.000010	T	0.43700	0.1259	M	0.69823	2.125	0.41195	D	0.986337	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68943	0.961;0.915;0.961	T	0.29852	-0.9998	10	0.66056	D	0.02	.	19.6775	0.95941	0.0:1.0:0.0:0.0	.	596;622;599	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	N	622;596;165;599;586;596;586	ENSP00000260283:D622N;ENSP00000349660:D596N;ENSP00000437905:D165N;ENSP00000432076:D599N;ENSP00000436319:D586N;ENSP00000436522:D596N;ENSP00000431399:D586N	ENSP00000260283:D622N	D	-	1	0	ARHGAP20	109957016	1.000000	0.71417	0.964000	0.40570	0.009000	0.06853	5.207000	0.65197	2.666000	0.90696	0.655000	0.94253	GAC	ARHGAP20	-	NULL	ENSG00000137727		0.468	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1	-	0	33	0	C	NM_020809		110451806	-1	tier1	-	no_errors	ENST00000260283	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	T	T	110451806	C	T	110451806	3	4	52	1	0	0	0	0	1	0	0	0	870	826	29	3	1715	3	ARHGAP20	11	110451806	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2447218	110451806	24554710	500	12840											
TMPRSS5	80975	genome.wustl.edu	37	chr11	113560988	113560988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccgtccaggtagccagCgcaaagcatgcggggggtga	8	6	15	12	3	0	1	0	1	0	0	2	1	2	1	4	4	4	3	4	4	2	2	rs201422387		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:113560988C>T	ENST00000299882.5	-	11	1319	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	TMPRSS5_ENST00000544634.1_Missense_Mutation_p.A322T|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.A347T|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.A278T|TMPRSS5_ENST00000545265.1_5'UTR|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.A382T|TMPRSS5_ENST00000540540.1_Missense_Mutation_p.A132T|TMPRSS5_ENST00000536856.1_Missense_Mutation_p.A132T	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	391	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AGGTAGCCAGCGCAAAGCATG	0.657																																																	0													19	23	21					11																	113560988		2061	4201	6262	SO:0001583	missense	0			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.1171G>A	11.37:g.113560988C>T	ENSP00000299882:p.Ala391Thr			Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A391T	ENST00000299882.5	37	c.1171	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310060	0.60414	.	.	ENSG00000166682	ENST00000536856;ENST00000540540;ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	4.21	4.21	0.49690	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000002	D	0.94938	0.8363	M	0.78916	2.43	0.40636	D	0.981903	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.95931	0.8938	10	0.87932	D	0	.	15.5165	0.75828	0.0:1.0:0.0:0.0	.	322;132;382;391	F5GYA3;G5EA47;F5GX83;Q9H3S3	.;.;.;TMPS5_HUMAN	T	132;132;391;382;347;322;278	ENSP00000437937:A132T;ENSP00000437761:A132T;ENSP00000299882:A391T;ENSP00000441104:A382T;ENSP00000445528:A347T;ENSP00000440783:A322T;ENSP00000445930:A278T	ENSP00000299882:A391T	A	-	1	0	TMPRSS5	113066198	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	5.659000	0.68010	2.189000	0.69895	0.305000	0.20034	GCT	TMPRSS5	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000166682		0.657	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	HGNC	protein_coding	OTTHUMT00000398652.1	-	0	14	0	C	NM_030770		113560988	-1	tier1	-	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	66.67	7	14	SNP	1.000	T	T	113560988	C	T	113560988	3	4	52	1	0	0	0	0	1	0	0	0	16297	768	27	1	214	1	TMPRSS5	11	113560988	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3109182	113560988	21445528	501	12841											
ZW10	9183	genome.wustl.edu	37	chr11	113639628	113639628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtaatcaggccctgcGcgctctgcatgctaggcagg	6	8	14	13	2	2	0	1	0	1	0	2	0	2	0	2	4	3	5	2	4	2	2	rs201149106		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:113639628G>A	ENST00000200135.3	-	2	311	c.167C>T	c.(166-168)gCg>gTg	p.A56V	RP11-667M19.2_ENST00000543486.1_RNA	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	56	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGGCCCTGCGCGCTCTGCAT	0.403																																																	0													157	148	151					11																	113639628		2201	4296	6497	SO:0001583	missense	0			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"ZW10 (Drosophila) homolog, centromere/kinetochore protein", "ZW10, kinetochore associated, homolog (Drosophila)"			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.167C>T	11.37:g.113639628G>A	ENSP00000200135:p.Ala56Val		A1A528	Missense_Mutation	SNP	pfam_RZZ-complex_Zw10	p.A56V	ENST00000200135.3	37	c.167	CCDS8363.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365020	0.82463	.	.	ENSG00000086827	ENST00000200135	T	0.47869	0.83	4.98	4.98	0.66077	.	0.060897	0.64402	D	0.000005	T	0.49795	0.1578	L	0.60455	1.87	0.80722	D	1	D	0.57899	0.981	P	0.45639	0.488	T	0.47471	-0.9115	10	0.29301	T	0.29	-13.2997	17.4244	0.87522	0.0:0.0:1.0:0.0	.	56	O43264	ZW10_HUMAN	V	56	ENSP00000200135:A56V	ENSP00000200135:A56V	A	-	2	0	ZW10	113144838	1.000000	0.71417	0.996000	0.52242	0.547000	0.35210	8.858000	0.92256	2.605000	0.88082	0.563000	0.77884	GCG	ZW10	-	pfam_RZZ-complex_Zw10	ENSG00000086827		0.403	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	-	0	29	0	G	NM_004724		113639628	-1	tier1	rs201149106	no_errors	ENST00000200135	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A	A	113639628	G	A	113639628	3	1	52	1	0	0	0	0	1	0	0	0	18295	1087	38	1	2232	1	ZW10	11	113639628	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	78640	113639628	21366888	502	12842											
MLL	4297	genome.wustl.edu	37	chr11	118343390	118343390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctgaggagcggagcgatAcccctgaagttcatcctcca	9	9	10	13	2	1	2	1	2	0	0	4	5	4	4	5	2	3	1	5	2	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118343390A>G	ENST00000389506.5	+	3	1516	c.1516A>G	c.(1516-1518)Acc>Gcc	p.T506A	KMT2A_ENST00000534358.1_Missense_Mutation_p.T506A|KMT2A_ENST00000354520.4_Missense_Mutation_p.T506A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	506					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCGGAGCGATACCCCTGAAGT	0.502																																																	0													109	115	113					11																	118343390		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1516A>G	11.37:g.118343390A>G	ENSP00000374157:p.Thr506Ala		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.T506A	ENST00000389506.5	37	c.1516	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	A	5.746	0.322137	0.10900	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.82344	-1.59;3.51;-1.6;-1.57	5.08	3.95	0.45737	.	0.260820	0.39475	N	0.001346	T	0.69788	0.3150	N	0.19112	0.55	0.38057	D	0.935962	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.001	T	0.66069	-0.6015	10	0.59425	D	0.04	.	8.29	0.31952	0.8459:0.0:0.1541:0.0	.	506;506;539	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	A	506;539;506;506	ENSP00000436786:T506A;ENSP00000432391:T539A;ENSP00000374157:T506A;ENSP00000346516:T506A	ENSP00000346516:T506A	T	+	1	0	MLL	117848600	0.998000	0.40836	0.789000	0.31954	0.989000	0.77384	3.666000	0.54540	0.895000	0.36342	0.402000	0.26972	ACC	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	12	0	A	NM_005933		118343390	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.903	G	G	118343390	A	G	118343390	3	3	52	1	0	0	0	0	1	0	0	0	9658	391	14	4	1526	4	MLL	11	118343390	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	4703762	118343390	16663126	503	12843											
PHLDB1	23187	genome.wustl.edu	37	chr11	118499019	118499019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagtcctcggccccggCgctgggcagcccatggggct	5	5	16	15	3	0	1	0	0	0	1	2	2	1	1	4	5	1	3	4	5	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118499019C>T	ENST00000361417.2	+	7	1891	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R494C	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	494										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCGGCCCCGGCGCTGGGCAGC	0.672																																																	0													25	32	29					11																	118499019		2200	4293	6493	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1480C>T	11.37:g.118499019C>T	ENSP00000354498:p.Arg494Cys		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R494C	ENST00000361417.2	37	c.1480	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674263	0.67928	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.44881	0.96;0.91	5.42	5.42	0.78866	.	0.105732	0.64402	D	0.000006	T	0.56673	0.2001	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.67725	0.953;0.911;0.948	T	0.58923	-0.7550	10	0.87932	D	0	-21.8619	18.1964	0.89823	0.0:1.0:0.0:0.0	.	494;494;494	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	C	494;253;494	ENSP00000354498:R494C;ENSP00000348359:R494C	ENSP00000348359:R494C	R	+	1	0	PHLDB1	118004229	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.417000	0.52714	2.543000	0.85770	0.561000	0.74099	CGC	PHLDB1	-	NULL	ENSG00000019144		0.672	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	-	0	21	0	C	NM_015157		118499019	1	tier1	-	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	50.00	21	21	SNP	1.000	T	T	118499019	C	T	118499019	3	4	52	1	0	0	0	0	1	0	0	0	11890	768	27	1	1498	1	PHLDB1	11	118499019	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	155629	118499019	16507497	504	12844											
BCL9L	283149	genome.wustl.edu	37	chr11	118769840	118769840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgggcaggtcctcgggagGcagggccatgcctgacgggt	5	7	19	10	2	0	1	0	1	0	0	2	2	1	2	3	6	1	3	3	6	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118769840G>C	ENST00000334801.3	-	8	4748	c.3784C>G	c.(3784-3786)Cct>Gct	p.P1262A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1262	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCCTCGGGAGGCAGGGCCATG	0.731																																																	0													8	8	8					11																	118769840		2169	4251	6420	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3784C>G	11.37:g.118769840G>C	ENSP00000335320:p.Pro1262Ala		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P1262A	ENST00000334801.3	37	c.3784	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596543	0.66332	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849	T	0.66280	-0.2	3.71	3.71	0.42584	.	0.358373	0.19706	N	0.107934	T	0.43875	0.1267	N	0.14661	0.345	0.30460	N	0.774381	P;P	0.41450	0.75;0.634	B;B	0.33690	0.168;0.081	T	0.56649	-0.7944	10	0.72032	D	0.01	-10.405	16.3541	0.83228	0.0:0.0:1.0:0.0	.	1257;1262	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	A	1262;1225;1262	ENSP00000335320:P1262A	ENSP00000335320:P1262A	P	-	1	0	BCL9L	118275050	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.268000	0.65536	2.003000	0.58678	0.455000	0.32223	CCT	BCL9L	-	NULL	ENSG00000186174		0.731	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1		0	8	0	G	NM_182557		118769840	-1			no_errors	ENST00000334801	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	C	C	118769840	G	C	118769840	3	2	52	1	0	0	0	0	1	0	0	0	1383	1203	42	5	719	5	BCL9L	11	118769840	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	270821	118769840	16236676	505	12845											
BCL9L	283149	genome.wustl.edu	37	chr11	118772427	118772427	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccgcagcagctcctcAcggacccggggagtcatgaa	8	6	14	13	3	2	1	2	1	0	0	3	3	3	3	3	4	3	3	3	4	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118772427A>G	ENST00000334801.3	-	6	2989	c.2025T>C	c.(2023-2025)cgT>cgC	p.R675R	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	675					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCAGCTCCTCACGGACCCGGG	0.652																																																	0													35	35	35					11																	118772427		2200	4295	6495	SO:0001819	synonymous_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2025T>C	11.37:g.118772427A>G			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.R675	ENST00000334801.3	37	c.2025	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.652	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0	26	0	A	NM_182557		118772427	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	44.00	28	22	SNP	0.044	G	G	118772427	A	G	118772427	2	3	52	1	0	0	0	0	0	0	0	1	1383	146	6	4		4	BCL9L	11	118772427	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2587	118772427	16234089	506	12846											
BCL9L	283149	genome.wustl.edu	37	chr11	118779083	118779083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttgagcgagctgaaaGggggcacccctgcctggggg	6	6	17	12	1	0	2	0	2	0	0	0	3	0	2	4	4	4	2	4	4	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:118779083G>T	ENST00000334801.3	-	2	1272	c.308C>A	c.(307-309)cCt>cAt	p.P103H	BCL9L_ENST00000526143.1_5'UTR|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	103					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGAGCTGAAAGGGGGCACCCC	0.642																																																	0													74	71	72					11																	118779083		2200	4295	6495	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.308C>A	11.37:g.118779083G>T	ENSP00000335320:p.Pro103His		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P103H	ENST00000334801.3	37	c.308	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903176	0.52333	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085;ENST00000532899	T;T	0.66460	-0.21;-0.21	5.62	3.73	0.42828	.	0.425465	0.20047	N	0.100397	T	0.49525	0.1562	N	0.22421	0.69	0.21553	N	0.999649	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.39099	-0.9630	10	0.42905	T	0.14	0.1834	8.5048	0.33181	0.074:0.0:0.6395:0.2865	.	98;103	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	H	103;66;103;103;103	ENSP00000335320:P103H;ENSP00000432804:P103H	ENSP00000335320:P103H	P	-	2	0	BCL9L	118284293	.	.	1.000000	0.80357	0.996000	0.88848	.	.	0.717000	0.32145	0.561000	0.74099	CCT	BCL9L	-	NULL	ENSG00000186174		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0	27	0	G	NM_182557		118779083	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	missense	42.00	29	21	SNP	0.786	T	T	118779083	G	T	118779083	3	4	52	1	0	0	0	0	1	0	0	0	1383	1000	35	3	4219	3	BCL9L	11	118779083	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6656	118779083	16227433	507	12847											
OR4D5	219875	genome.wustl.edu	37	chr11	123810341	123810341	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatgaatccagcaaatcaTtcccaggtggcaggatttgt	12	10	10	9	0	1	2	1	1	0	1	3	3	3	3	2	3	1	2	2	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:123810341T>C	ENST00000307033.2	+	1	92	c.18T>C	c.(16-18)caT>caC	p.H6H		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGCAAATCATTCCCAGGTGG	0.408																																																	0													86	86	86					11																	123810341		2202	4299	6501	SO:0001819	synonymous_variant	0			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.18T>C	11.37:g.123810341T>C			B9EGZ4|Q6IFE6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H6	ENST00000307033.2	37	c.18	CCDS31699.1	11																																																																																			OR4D5	-	NULL	ENSG00000171014		0.408	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	-	0	66	0	T	NM_001001965		123810341	1	tier1	-	no_errors	ENST00000307033	ensembl	human	known	74_37	silent	53.85	42	49	SNP	0.193	C	C	123810341	T	C	123810341	2	2	52	1	0	0	0	0	0	0	0	1	11096	1490	52	4		4	OR4D5	11	123810341	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	5031258	123810341	11196175	508	12848											
OR8G1	26494	genome.wustl.edu	37	chr11	124120778	124120778	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgttggctgcaatggCgtatgaccgttacatggcca	9	11	11	10	2	1	1	1	1	0	0	1	1	1	1	2	3	2	5	2	3	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:124120778C>T	ENST00000534473.2	+	0	356				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GCTGCAATGGCGTATGACCGT	0.448																																																	0													223	212	216					11																	124120778		2180	4288	6468			0			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"GPCR / Class A : Olfactory receptors"	8484	protein-coding gene	gene with protein product			"olfactory receptor, family 8, subfamily G, member 1 pseudogene"	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124120778C>T			Q8NG88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A119V	ENST00000534473.2	37	c.356		11																																																																																			OR8G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197849		0.448	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	OR8G1	HGNC	polymorphic_pseudogene	OTTHUMT00000387282.2	-	0	144	0	C	NM_001002905		124120778	1	tier1	-	no_errors	ENST00000341493	ensembl	human	known	74_37	missense	23.03	136	41	SNP	1.000	T	T	124120778	C	T	124120778	1	4	52	0	1	0	0	0	0	0	0	0	11273	768	27	1		1	OR8G1	11	124120778	RNA	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	310437	124120778	10885738	509	12849											
FEZ1	9638	genome.wustl.edu	37	chr11	125330507	125330509	+	In_Frame_Del	DEL	TCT	TCT	-																															cctcttcttccagaacctccTcttcttcctcagggtctggg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:125330507_125330509delTCT	ENST00000278919.3	-	5	786_788	c.552_554delAGA	c.(550-555)gaagag>gag	p.184_185EE>E	FEZ1_ENST00000527350.1_Intron	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	184	Poly-Glu.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CAGAACCTCCTCTTCTTCCTCAG	0.507																																					Melanoma(180;509 2033 10762 15939 24711)												0																																										SO:0001651	inframe_deletion	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.552_554delAGA	11.37:g.125330510_125330512delTCT	ENSP00000278919:p.Glu186del		O00679|O00728|Q6IBI7	In_Frame_Del	DEL	pfam_FEZ	p.E186in_frame_del	ENST00000278919.3	37	c.554_552	CCDS31716.1	11																																																																																			FEZ1	-	pfam_FEZ	ENSG00000149557		0.507	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZ1	HGNC	protein_coding	OTTHUMT00000386875.1		0	50	0	TCT	NM_005103		125330509	-1	tier1		no_errors	ENST00000278919	ensembl	human	known	74_37	in_frame_del	53.06	23	26	DEL	1.000:1.000:0.991	-	-	125330509	TCT	-	125330507	7	5	52	1	0	1	0	1	0	0	0	0	5845	1551	54	0	648	0	FEZ1	11	125330507	In_Frame_Del	DEL	TCT	TCGA-L5-A43J-01A-12D-A247-09	1209729	125330507	9676009	510	12850											
NFRKB	4798	genome.wustl.edu	37	chr11	129762692	129762692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgcgtgccatggccatctCcacacggaccaagttccaga	9	7	10	15	3	1	1	0	0	1	1	3	2	2	2	5	2	2	1	5	2	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:129762692C>A	ENST00000446488.3	-	2	156	c.53G>T	c.(52-54)gGa>gTa	p.G18V	NFRKB_ENST00000526940.1_Missense_Mutation_p.G18V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G18V|NFRKB_ENST00000304521.5_Missense_Mutation_p.G18V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G31V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	18					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ATGGCCATCTCCACACGGACC	0.517																																																	0													199	163	175					11																	129762692		2201	4297	6498	SO:0001583	missense	0				CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"INO80 complex subunits"	7802	protein-coding gene	gene with protein product	"nuclear factor related to kappa B binding protein", "DNA-binding protein R kappa B", "INO80 complex subunit G"	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.53G>T	11.37:g.129762692C>A	ENSP00000400476:p.Gly18Val		Q12869|Q15312|Q9H048	Missense_Mutation	SNP	NULL	p.G31V	ENST00000446488.3	37	c.92	CCDS44770.1	11	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800122	0.31869	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755;ENST00000532225;ENST00000529319;ENST00000526940;ENST00000526884;ENST00000531318	.	.	.	5.24	5.24	0.73138	.	0.334633	0.31872	N	0.006925	T	0.41351	0.1155	N	0.16478	0.41	0.51482	D	0.999923	B;B;B;B	0.20550	0.027;0.027;0.046;0.046	B;B;B;B	0.17722	0.008;0.008;0.019;0.019	T	0.25984	-1.0116	9	0.32370	T	0.25	-8.0676	13.4471	0.61146	0.1569:0.8431:0.0:0.0	.	18;18;18;31	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	V	18;18;31;18;18;18;18;18;18;18	.	ENSP00000303800:G18V	G	-	2	0	NFRKB	129267902	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.054000	0.49908	2.458000	0.83093	0.585000	0.79938	GGA	NFRKB	-	NULL	ENSG00000170322		0.517	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFRKB	HGNC	protein_coding	OTTHUMT00000386063.2	-	0	19	0	C	NM_006165		129762692	-1	tier1	-	no_errors	ENST00000524794	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	A	A	129762692	C	A	129762692	3	1	52	1	0	0	0	0	1	0	0	0	10423	855	30	3	3982	3	NFRKB	11	129762692	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4432185	129762692	5243824	511	12851											
PRDM10	56980	genome.wustl.edu	37	chr11	129812346	129812346	+	Frame_Shift_Del	DEL	T	T	-																															gttcctgcttgggctccacaTtttttatggttgtataatac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:129812346delT	ENST00000360871.3	-	7	1172	c.941delA	c.(940-942)aatfs	p.N314fs	PRDM10_ENST00000528746.1_Frame_Shift_Del_p.N288fs|PRDM10_ENST00000304538.6_Frame_Shift_Del_p.N228fs|PRDM10_ENST00000423662.2_Frame_Shift_Del_p.N228fs|PRDM10_ENST00000526082.1_Frame_Shift_Del_p.N228fs|PRDM10_ENST00000358825.5_Frame_Shift_Del_p.N314fs	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	314	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.N314T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGCTCCACATTTTTTATGGT	0.458																																																	1	Substitution - Missense(1)	breast(1)											76	78	77					11																	129812346		2201	4297	6498	SO:0001589	frameshift_variant	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.941delA	11.37:g.129812346delT	ENSP00000354118:p.Asn314fs		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N314fs	ENST00000360871.3	37	c.941	CCDS8484.1	11																																																																																			PRDM10	-	NULL	ENSG00000170325		0.458	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1		0	61	0	T	NM_199437		129812346	-1	tier1		no_errors	ENST00000358825	ensembl	human	known	74_37	frame_shift_del	40.00	48	32	DEL	0.999	-	-	129812346	T	-	129812346	7	5	52	1	0	1	0	1	0	0	0	0	12493	1493	52	0	2605	0	PRDM10	11	129812346	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	49654	129812346	5194170	512	12852											
ADAMTS15	170689	genome.wustl.edu	37	chr11	130343039	130343039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggggatgacaactacCtggctctgaagaacagccaa	13	7	11	10	1	1	4	0	3	1	1	2	5	1	5	2	3	4	1	2	3	5	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:130343039C>A	ENST00000299164.2	+	8	2176	c.2176C>A	c.(2176-2178)Ctg>Atg	p.L726M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	726	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L726L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TGACAACTACCTGGCTCTGAA	0.607																																																	1	Substitution - coding silent(1)	lung(1)											67	67	67					11																	130343039		2201	4297	6498	SO:0001583	missense	0			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"ADAM metallopeptidases with thrombospondin type 1 motif"	16305	protein-coding gene	gene with protein product		607509	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2176C>A	11.37:g.130343039C>A	ENSP00000299164:p.Leu726Met		Q32MI6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8	p.L726M	ENST00000299164.2	37	c.2176	CCDS8488.1	11	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534490	0.64972	.	.	ENSG00000166106	ENST00000299164	T	0.70631	-0.5	5.67	1.2	0.21068	ADAM-TS Spacer 1 (1);	.	.	.	.	D	0.85703	0.5758	M	0.92784	3.345	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86817	0.2002	9	0.87932	D	0	.	11.6608	0.51345	0.0:0.7174:0.0:0.2826	.	726	Q8TE58	ATS15_HUMAN	M	726	ENSP00000299164:L726M	ENSP00000299164:L726M	L	+	1	2	ADAMTS15	129848249	0.610000	0.26983	0.999000	0.59377	0.978000	0.69477	0.219000	0.17641	0.355000	0.24131	-0.258000	0.10820	CTG	ADAMTS15	-	pfam_ADAM_spacer1	ENSG00000166106		0.607	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS15	HGNC	protein_coding	OTTHUMT00000385638.1	-	0	26	0	C	NM_139055		130343039	1	tier1	-	no_errors	ENST00000299164	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	A	A	130343039	C	A	130343039	3	1	52	1	0	0	0	0	1	0	0	0	260	680	24	3	2206	3	ADAMTS15	11	130343039	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	530693	130343039	4663477	513	12853											
SNX19	399979	genome.wustl.edu	37	chr11	130775936	130775936	+	Frame_Shift_Del	DEL	T	T	-																															ttgggaggttgttcaggatcTttttctggggcttttgttgg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr11:130775936delT	ENST00000265909.4	-	7	2924	c.2355delA	c.(2353-2355)aaafs	p.K785fs	SNX19_ENST00000528555.1_Frame_Shift_Del_p.K165fs|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Frame_Shift_Del_p.K165fs|SNX19_ENST00000534726.1_Frame_Shift_Del_p.K25fs|SNX19_ENST00000545537.1_Frame_Shift_Del_p.K25fs|SNX19_ENST00000533214.1_Frame_Shift_Del_p.K768fs|SNX19_ENST00000539184.1_Frame_Shift_Del_p.K228fs	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	785					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GTTCAGGATCTTTTTCTGGGG	0.493																																																	0													144	127	132					11																	130775936		2201	4297	6498	SO:0001589	frameshift_variant	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2355delA	11.37:g.130775936delT	ENSP00000265909:p.Lys785fs		E9PKB9|Q8IV55	Frame_Shift_Del	DEL	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.D786fs	ENST00000265909.4	37	c.2355	CCDS31721.1	11																																																																																			SNX19	-	NULL	ENSG00000120451		0.493	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1		0	44	0	T	NM_014758		130775936	-1			no_errors	ENST00000265909	ensembl	human	known	74_37	frame_shift_del	15.22	39	7	DEL	0.005	0	-	130775936	T	-	130775936	7	5	52	1	0	1	0	1	0	0	0	0	14935	1606	56	0	643	0	SNX19	11	130775936	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	432897	130775936	4230580	514	12854											
SLC6A13	6540	genome.wustl.edu	37	chr12	369121	369121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttgttgttccagtgcCcccgctccagggtgccatct	4	12	9	16	1	2	0	0	0	2	0	4	0	4	0	6	1	2	3	6	1	0	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:369121C>T	ENST00000343164.4	-	2	150	c.98G>A	c.(97-99)gGg>gAg	p.G33E	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G33E|RP11-283I3.4_ENST00000540868.1_RNA|SLC6A13_ENST00000436453.1_Missense_Mutation_p.G33E	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	33				Missing (in Ref. 1; AAF64247). {ECO:0000305}.	neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTTCCAGTGCCCCCGCTCCAG	0.517																																																	0													266	237	247					12																	369121		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.98G>A	12.37:g.369121C>T	ENSP00000339260:p.Gly33Glu		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.G33E	ENST00000343164.4	37	c.98	CCDS8502.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.93|13.93	2.383588|2.383588	0.42207|0.42207	.|.	.|.	ENSG00000010379|ENSG00000010379	ENST00000445055;ENST00000343164;ENST00000546319;ENST00000436453|ENST00000313154	T;T;T;T|.	0.73897|.	-0.79;-0.79;-0.79;-0.79|.	5.94|5.94	1.02|1.02	0.19986|0.19986	.|.	0.157331|0.157331	0.56097|0.56097	N|D	0.000023|0.000023	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.11724|0.11724	0.165|0.165	0.28705|0.28705	N|N	0.903864|0.903864	B;P;B|.	0.41420|.	0.035;0.749;0.01|.	B;P;B|.	0.48654|.	0.04;0.585;0.029|.	T|T	0.23762|0.23762	-1.0179|-1.0179	10|7	0.02654|0.72032	T|D	1|0.01	.|.	9.6359|9.6359	0.39806|0.39806	0.0:0.6568:0.0:0.3432|0.0:0.6568:0.0:0.3432	.|.	33;33;33|.	B4DJL1;Q8WW56;Q9NSD5|.	.;.;S6A13_HUMAN|.	E|S	33|23	ENSP00000407104:G33E;ENSP00000339260:G33E;ENSP00000444606:G33E;ENSP00000389316:G33E|.	ENSP00000339260:G33E|ENSP00000318097:G23S	G|G	-|-	2|1	0|0	SLC6A13|SLC6A13	239382|239382	0.951000|0.951000	0.32395|0.32395	0.319000|0.319000	0.25293|0.25293	0.949000|0.949000	0.60115|0.60115	2.159000|2.159000	0.42339|0.42339	0.120000|0.120000	0.18254|0.18254	0.563000|0.563000	0.77884|0.77884	GGG|GGC	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.517	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	-	0	61	0	C	NM_016615		369121	-1	tier1	-	no_errors	ENST00000343164	ensembl	human	known	74_37	missense	42.64	74	55	SNP	0.913	T	T	369121	C	T	369121	3	4	52	1	0	0	0	0	1	0	0	0	14721	623	22	3	1766	3	SLC6A13	12	369121	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		369121	133482774	515	12855											
CACNA1C	775	genome.wustl.edu	37	chr12	2693755	2693757	+	In_Frame_Del	DEL	GAG	GAG	-																															ctgcccaaaaggaggaggaaGaggagaaggagagaaagaag																								rs377519371		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2693755_2693757delGAG	ENST00000347598.4	+	16	2311_2313	c.2311_2313delGAG	c.(2311-2313)gagdel	p.E772del	CACNA1C_ENST00000402845.3_In_Frame_Del_p.E772del|CACNA1C_ENST00000406454.3_In_Frame_Del_p.E772del|CACNA1C_ENST00000480911.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399595.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000327702.7_In_Frame_Del_p.E772del|CACNA1C_ENST00000399629.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399655.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000344100.3_In_Frame_Del_p.E772del|CACNA1C_ENST00000399621.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000335762.5_In_Frame_Del_p.E797del|CACNA1C_ENST00000399603.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399606.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399617.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399601.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399641.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399638.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399644.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399637.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399634.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399597.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399591.1_In_Frame_Del_p.E772del|CACNA1C_ENST00000399649.1_In_Frame_Del_p.E772del	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	772	Poly-Glu.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E771D(3)|p.E306D(1)|p.E801D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ggaggaggaagaggagaaggaga	0.542																																																	5	Substitution - Missense(5)	lung(5)																																								SO:0001651	inframe_deletion	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2311_2313delGAG	12.37:g.2693758_2693760delGAG	ENSP00000266376:p.Glu772del		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E772in_frame_del	ENST00000347598.4	37	c.2311_2313	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.542	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	21	0	GAG	NM_000719		2693757	1	tier1		no_errors	ENST00000399634	ensembl	human	known	74_37	in_frame_del	35.00	39	21	DEL	1.000:1.000:1.000	-	-	2693757	GAG	-	2693755	7	5	52	1	0	1	0	1	0	0	0	0	2547	943	33	0	2481	0	CACNA1C	12	2693755	In_Frame_Del	DEL	GAG	TCGA-L5-A43J-01A-12D-A247-09	2324634	2693755	131158140	516	12856	49	2									
CACNA1C	775	genome.wustl.edu	37	chr12	2693757	2693757	+	Silent	SNP	G	G	A																															gcccaaaaggaggaggaagaGgagaaggagagaaagaagct																								rs377519371		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2693757G>A	ENST00000347598.4	+	16	2313	c.2313G>A	c.(2311-2313)gaG>gaA	p.E771E	CACNA1C_ENST00000402845.3_Silent_p.E771E|CACNA1C_ENST00000406454.3_Silent_p.E771E|CACNA1C_ENST00000480911.1_Silent_p.E771E|CACNA1C_ENST00000399595.1_Silent_p.E771E|CACNA1C_ENST00000327702.7_Silent_p.E771E|CACNA1C_ENST00000399629.1_Silent_p.E771E|CACNA1C_ENST00000399655.1_Silent_p.E771E|CACNA1C_ENST00000344100.3_Silent_p.E771E|CACNA1C_ENST00000399621.1_Silent_p.E771E|CACNA1C_ENST00000335762.5_Silent_p.E796E|CACNA1C_ENST00000399603.1_Silent_p.E771E|CACNA1C_ENST00000399606.1_Silent_p.E771E|CACNA1C_ENST00000399617.1_Silent_p.E771E|CACNA1C_ENST00000399601.1_Silent_p.E771E|CACNA1C_ENST00000399641.1_Silent_p.E771E|CACNA1C_ENST00000399638.1_Silent_p.E771E|CACNA1C_ENST00000399644.1_Silent_p.E771E|CACNA1C_ENST00000399637.1_Silent_p.E771E|CACNA1C_ENST00000399634.1_Silent_p.E771E|CACNA1C_ENST00000399597.1_Silent_p.E771E|CACNA1C_ENST00000399591.1_Silent_p.E771E|CACNA1C_ENST00000399649.1_Silent_p.E771E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	771	Poly-Glu.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E771D(3)|p.E306D(1)|p.E801D(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aggaggaagaggagaaggaga	0.547																																																	5	Substitution - Missense(5)	lung(5)											68	74	72					12																	2693757		1969	4179	6148	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2313G>A	12.37:g.2693757G>A			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E771	ENST00000347598.4	37	c.2313	CCDS44788.1	12																																																																																			CACNA1C	-	NULL	ENSG00000151067		0.547	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	21	0	G	NM_000719		2693757	1			no_errors	ENST00000399634	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A	A	2693757	G	A	2693757	2	1	52	1	0	0	0	0	0	0	0	1	2547	991	35	3		3	CACNA1C	12	2693757	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2	2693757	131158138	517	12857	49	2									
NRIP2	83714	genome.wustl.edu	37	chr12	2943918	2943918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgctgctggctcaggtGggctcggtctcgaagctgtg	3	9	17	12	4	2	0	1	0	1	0	4	1	2	0	1	5	2	5	1	5	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2943918G>T	ENST00000337508.4	-	1	272	c.232C>A	c.(232-234)Cac>Aac	p.H78N		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	78					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TGGCTCAGGTGGGCTCGGTCT	0.667																																																	0													112	112	112					12																	2943918		2203	4300	6503	SO:0001583	missense	0			AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.232C>A	12.37:g.2943918G>T	ENSP00000337501:p.His78Asn		A2RRE3|B4DV61	Missense_Mutation	SNP	pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom	p.H78N	ENST00000337508.4	37	c.232	CCDS8514.1	12	.	.	.	.	.	.	.	.	.	.	G	8.404	0.842647	0.16963	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990;ENST00000542386	.	.	.	4.06	3.12	0.35913	.	1.196890	0.05839	N	0.618919	T	0.30198	0.0757	L	0.29908	0.895	0.25992	N	0.982233	B	0.27068	0.167	B	0.23275	0.045	T	0.12091	-1.0561	9	0.13853	T	0.58	-0.5596	9.2186	0.37362	0.0:0.0:0.6392:0.3608	.	78	Q9BQI9	NRIP2_HUMAN	N	78;78;28;28	.	ENSP00000337501:H78N	H	-	1	0	NRIP2	2814179	0.743000	0.28239	0.999000	0.59377	0.976000	0.68499	0.760000	0.26475	2.115000	0.64714	0.484000	0.47621	CAC	NRIP2	-	NULL	ENSG00000053702		0.667	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP2	HGNC	protein_coding	OTTHUMT00000253090.4	-	0	49	0	G	NM_031474		2943918	-1	tier1	-	no_errors	ENST00000337508	ensembl	human	known	74_37	missense	36.75	74	43	SNP	0.994	T	T	2943918	G	T	2943918	3	4	52	1	0	0	0	0	1	0	0	0	10692	1348	47	3	637	3	NRIP2	12	2943918	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	250161	2943918	130907977	518	12858											
FOXM1	2305	genome.wustl.edu	37	chr12	2968282	2968282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggaggagatgggcagcGtttccttaatgggtgtctta	7	12	17	5	1	1	1	0	0	1	1	2	3	2	2	1	5	1	2	1	5	2	3	rs199632659		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:2968282G>A	ENST00000359843.3	-	9	1882	c.1814C>T	c.(1813-1815)aCg>aTg	p.T605M	AC005841.1_ENST00000382678.3_5'Flank|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000342628.2_Missense_Mutation_p.T643M|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Missense_Mutation_p.T590M	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	605					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GATGGGCAGCGTTTCCTTAAT	0.602													G|||	1	0.000199681	0	0	5008	,	,		17338	0		0	False		,,,				2504	0.001																0								G	MET/THR,MET/THR,MET/THR	6,4390		0,6,2192	60	70	67		1814,1928,1769	0.5	0	12		67	0,8598		0,0,4299	yes	missense,missense,missense	FOXM1	NM_021953.3,NM_202002.2,NM_202003.2	81,81,81	0,6,6491	AA,AG,GG		0.0,0.1365,0.0462	benign,benign,benign	605/764,643/802,590/749	2968282	6,12988	2198	4299	6497	SO:0001583	missense	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1814C>T	12.37:g.2968282G>A	ENSP00000352901:p.Thr605Met		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T643M	ENST00000359843.3	37	c.1928	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	1.313	-0.601736	0.03744	0.001365	0.0	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.92348	-2.95;-3.02;-2.94	4.6	0.531	0.17108	.	0.566665	0.19391	N	0.115401	T	0.80523	0.4639	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.31274	0.222;0.176;0.171;0.176;0.317	B;B;B;B;B	0.17979	0.013;0.006;0.02;0.006;0.02	T	0.65146	-0.6239	10	0.20046	T	0.44	.	0.5367	0.00638	0.3643:0.1742:0.2835:0.1781	.	589;605;590;605;643	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	M	643;590;605	ENSP00000342307:T643M;ENSP00000354492:T590M;ENSP00000352901:T605M	ENSP00000342307:T643M	T	-	2	0	FOXM1	2838543	0.000000	0.05858	0.002000	0.10522	0.297000	0.27493	-0.070000	0.11523	0.232000	0.21100	0.561000	0.74099	ACG	FOXM1	-	NULL	ENSG00000111206		0.602	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	-	0	32	0	G	NM_021953		2968282	-1	tier1	rs199632659	no_errors	ENST00000342628	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.002	A	A	2968282	G	A	2968282	3	1	52	1	0	0	0	0	1	0	0	0	6042	1145	40	1	481	1	FOXM1	12	2968282	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	24364	2968282	130883613	519	12859											
FGF23	8074	genome.wustl.edu	37	chr12	4479741	4479741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgctccgggtgtgccgcCgtggtatgggggtgttgaag	3	9	20	9	5	0	1	0	1	0	0	1	1	1	1	3	5	1	3	3	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:4479741C>T	ENST00000237837.1	-	3	669	c.524G>A	c.(523-525)cGg>cAg	p.R175Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	175					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GGTGTGCCGCCGTGGTATGGG	0.667																																																	0													34	39	37					12																	4479741		2202	4299	6501	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.524G>A	12.37:g.4479741C>T	ENSP00000237837:p.Arg175Gln		Q4V758	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R175Q	ENST00000237837.1	37	c.524	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694406	0.30052	.	.	ENSG00000118972	ENST00000237837	D	0.88818	-2.43	4.94	4.03	0.46877	.	0.268897	0.30159	N	0.010267	T	0.75332	0.3835	L	0.29908	0.895	0.26351	N	0.977204	P	0.44006	0.824	B	0.33121	0.158	T	0.66139	-0.5998	10	0.18710	T	0.47	-19.1788	5.9479	0.19229	0.0:0.7085:0.0:0.2915	rs28937881	175	Q9GZV9	FGF23_HUMAN	Q	175	ENSP00000237837:R175Q	ENSP00000237837:R175Q	R	-	2	0	FGF23	4350002	1.000000	0.71417	0.924000	0.36721	0.008000	0.06430	1.760000	0.38430	2.562000	0.86427	0.549000	0.68633	CGG	FGF23	-	NULL	ENSG00000118972		0.667	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	-	0	20	0	C			4479741	-1	tier1	rs28937881	no_errors	ENST00000237837	ensembl	human	known	74_37	missense	35.21	46	25	SNP	0.898	T	T	4479741	C	T	4479741	3	4	52	1	0	0	0	0	1	0	0	0	5874	652	23	1	235	1	FGF23	12	4479741	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1511459	4479741	129372154	520	12860											
KCNA6	3742	genome.wustl.edu	37	chr12	4919431	4919431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccctggccggcgagtccGcttcttcgaccccctgagga	6	7	12	16	4	1	2	0	1	1	1	3	5	2	3	5	3	0	1	5	3	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:4919431G>A	ENST00000280684.3	+	1	1090	c.224G>A	c.(223-225)cGc>cAc	p.R75H	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R75H			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	75					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CGGCGAGTCCGCTTCTTCGAC	0.632										HNSCC(72;0.22)																																							0													48	50	49					12																	4919431		2203	4300	6503	SO:0001583	missense	0			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.224G>A	12.37:g.4919431G>A	ENSP00000280684:p.Arg75His			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R75H	ENST00000280684.3	37	c.224	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835563	0.50951	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76839	-1.05;-1.05	4.57	4.57	0.56435	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.111377	0.64402	D	0.000007	T	0.70413	0.3221	L	0.45581	1.43	0.48452	D	0.999655	B	0.26081	0.141	B	0.23574	0.047	T	0.69363	-0.5165	10	0.45353	T	0.12	.	12.0894	0.53717	0.0865:0.0:0.9135:0.0	.	75	P17658	KCNA6_HUMAN	H	75	ENSP00000408321:R75H;ENSP00000280684:R75H	ENSP00000280684:R75H	R	+	2	0	KCNA6	4789692	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.655000	0.83696	2.363000	0.80096	0.462000	0.41574	CGC	KCNA6	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.632	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0	85	0	G	NM_002235		4919431	1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	missense	48.00	91	84	SNP	1.000	A	A	4919431	G	A	4919431	3	1	52	1	0	0	0	0	1	0	0	0	8034	1087	38	1	226	1	KCNA6	12	4919431	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	439690	4919431	128932464	521	12861											
ING4	51147	genome.wustl.edu	37	chr12	6762111	6762111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcctcactctttttgcCtttgctggaagagctgtcat	5	15	7	14	0	3	1	2	0	1	1	4	2	4	2	4	1	3	2	4	1	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:6762111C>A	ENST00000396807.4	-	4	420	c.382G>T	c.(382-384)Ggc>Tgc	p.G128C	ING4_ENST00000486287.1_5'UTR|ING4_ENST00000444704.2_Missense_Mutation_p.G104C|ING4_ENST00000412586.2_Splice_Site_p.E128*|ING4_ENST00000341550.4_Missense_Mutation_p.G128C|ING4_ENST00000423703.2_Missense_Mutation_p.G128C|ING4_ENST00000446105.2_Splice_Site_p.G128C	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	128					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CTCTTTTTGCCTTTGCTGGAA	0.542																																																	0													63	66	65					12																	6762111		2203	4300	6503	SO:0001583	missense	0			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"Zinc fingers, PHD-type"	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.382G>T	12.37:g.6762111C>A	ENSP00000380024:p.Gly128Cys		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E128*	ENST00000396807.4	37	c.382	CCDS44813.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.573016|4.573016	0.86542|0.86542	.|.	.|.	ENSG00000111653|ENSG00000111653	ENST00000412586|ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000423703	.|T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88	4.96|4.96	4.08|4.08	0.47627|0.47627	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.64148	.|0.2572	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D;D;P;D;D	.|0.89917	.|0.996;1.0;0.525;0.983;1.0	.|D;D;B;P;D	.|0.97110	.|0.917;0.922;0.303;0.827;1.0	.|T	.|0.74405	.|-0.3676	.|8	0.05620|0.59425	T|D	0.96|0.04	-8.9717|-8.9717	13.4124|13.4124	0.60950|0.60950	0.0:0.9244:0.0:0.0756|0.0:0.9244:0.0:0.0756	.|.	.|104;128;128;128;128	.|Q9UNL4-3;A4KYM6;Q9UNL4-4;Q9UNL4;Q4VBQ6	.|.;.;.;ING4_HUMAN;.	X|C	128|128;128;128;104;128	.|ENSP00000343396:G128C;ENSP00000380024:G128C;ENSP00000415903:G128C;ENSP00000397343:G104C	ENSP00000412705:E128X|ENSP00000343396:G128C	E|G	-|-	1|1	0|0	ING4|ING4	6632372|6632372	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.294000|7.294000	0.78760|0.78760	1.317000|1.317000	0.45149|0.45149	0.650000|0.650000	0.86243|0.86243	GAA|GGC	ING4	-	NULL	ENSG00000111653		0.542	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ING4	HGNC	protein_coding	OTTHUMT00000280467.2		0	16	0	C	NM_198287		6762111	-1			no_errors	ENST00000412586	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	A	A	6762111	C	A	6762111	3	1	52	1	0	0	0	0	1	0	0	0	7765	695	24	3	387	3	ING4	12	6762111	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1842680	6762111	127089784	522	12862											
LEPREL2	10536	genome.wustl.edu	37	chr12	6939693	6939693	+	RNA	DEL	G	G	-																															gaggatggggctgcgagccaGgggggcctctatgaggccat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:6939693delG	ENST00000538102.1	+	0	46				LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGCGAGCCAGGGGGGCCTCT	0.637																																																	0													11	12	12					12																	6939693		1948	4120	6068			0			U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 3"	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6939693delG			Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	Frame_Shift_Del	DEL	smart_Pro_4_hyd_alph	p.G277fs	ENST00000538102.1	37	c.825		12																																																																																			LEPREL2	-	NULL	ENSG00000110811		0.637	LEPREL2-006	KNOWN	basic	processed_transcript	LEPREL2	HGNC	polymorphic_pseudogene	OTTHUMT00000399998.1		0	26	0	G	NM_014262		6939693	1	tier1		no_errors	ENST00000396725	ensembl	human	known	74_37	frame_shift_del	27.06	62	23	DEL	0.003	-	-	6939693	G	-	6939693	6	5	52	0	1	1	0	1	0	0	0	0	8759	991	35	0		0	LEPREL2	12	6939693	RNA	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	177582	6939693	126912202	523	12863											
ATN1	1822	genome.wustl.edu	37	chr12	7045897	7045897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcaacagcaacagcaGcagcagcagcagcagcagca	16	0	10	15	0	0	0	0	0	0	0	0	0	0	0	1	0	12	10	1	0	2	0	rs377147612|rs60216939		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:7045897G>A	ENST00000356654.4	+	5	1704	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	ATN1_ENST00000396684.2_Silent_p.Q489Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	489	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcaacagcagcagcagcagc	0.637																																																	0													55	68	63					12																	7045897		2202	4299	6501	SO:0001819	synonymous_variant	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1467G>A	12.37:g.7045897G>A			Q99495|Q99621|Q9UEK7	Silent	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.Q489	ENST00000356654.4	37	c.1467	CCDS31734.1	12																																																																																			ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2		0	32	0	G	NM_001940		7045897	1			no_errors	ENST00000356654	ensembl	human	known	74_37	silent	20.63	49	13	SNP	0.700	A	A	7045897	G	A	7045897	2	1	52	1	0	0	0	0	0	0	0	1	1112	962	34	3		3	ATN1	12	7045897	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	106204	7045897	126805998	524	12864											
ATN1	1822	genome.wustl.edu	37	chr12	7045933	7045933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcatcacggaaactctgg	13	3	12	13	1	2	0	1	0	1	0	2	1	2	1	0	2	9	8	0	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:7045933G>T	ENST00000356654.4	+	5	1740	c.1503G>T	c.(1501-1503)caG>caT	p.Q501H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q501H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	501	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcaTCACG	0.632																																																	0													50	59	56					12																	7045933		2203	4300	6503	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"dentatorubral-pallidoluysian atrophy (atrophin-1)"	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1503G>T	12.37:g.7045933G>T	ENSP00000349076:p.Gln501His		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.Q501H	ENST00000356654.4	37	c.1503	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	g	4.415	0.076769	0.08485	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.56776	0.44;0.44;0.44	2.87	-4.98	0.03019	.	.	.	.	.	T	0.29158	0.0725	N	0.22421	0.69	0.09310	N	1	P	0.44521	0.837	B	0.36418	0.224	T	0.25537	-1.0129	9	0.12430	T	0.62	.	12.1608	0.54103	0.1812:0.0:0.8188:0.0	.	501	P54259	ATN1_HUMAN	H	501;501;501;86	ENSP00000349076:Q501H;ENSP00000379915:Q501H;ENSP00000441744:Q501H	ENSP00000229279:Q86H	Q	+	3	2	ATN1	6916194	0.370000	0.25047	0.054000	0.19295	0.338000	0.28826	0.810000	0.27183	-1.248000	0.02503	0.177000	0.17058	CAG	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.632	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2		0	30	0	G	NM_001940		7045933	1			no_errors	ENST00000356654	ensembl	human	known	74_37	missense	7.14	63	5	SNP	0.002	T	T	7045933	G	T	7045933	3	4	52	1	0	0	0	0	1	0	0	0	1112	962	34	3	1517	3	ATN1	12	7045933	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	36	7045933	126805962	525	12865											
CD163	9332	genome.wustl.edu	37	chr12	7635292	7635292	+	Frame_Shift_Del	DEL	A	A	-																															tcaagaagaataatgcgacgAaaatggccaacagaacaacc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:7635292delA	ENST00000359156.4	-	14	3396	c.3194delT	c.(3193-3195)ttcfs	p.F1065fs	CD163_ENST00000541972.1_Frame_Shift_Del_p.F1053fs|CD163_ENST00000432237.2_Frame_Shift_Del_p.F1065fs|CD163_ENST00000396620.3_Frame_Shift_Del_p.F1098fs|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TAATGCGACGAAAATGGCCAA	0.423																																																	0													130	137	135					12																	7635292		2203	4300	6503	SO:0001589	frameshift_variant	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3194delT	12.37:g.7635292delA	ENSP00000352071:p.Phe1065fs		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Frame_Shift_Del	DEL	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.F1065fs	ENST00000359156.4	37	c.3194	CCDS8578.1	12																																																																																			CD163	-	NULL	ENSG00000177575		0.423	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2		0	31	0	A	NM_004244, NM_203416		7635292	-1	tier1		no_errors	ENST00000359156	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	0.030	-	-	7635292	A	-	7635292	7	5	52	1	0	1	0	1	0	0	0	0	2974	246	9	0	288	0	CD163	12	7635292	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	589359	7635292	126216603	526	12866											
A2M	2	genome.wustl.edu	37	chr12	9252079	9252079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgagcgacaggagcaatGtctgacttcacagggattga	13	7	12	9	2	2	2	1	2	1	0	2	6	2	4	1	2	3	1	1	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:9252079G>A	ENST00000318602.7	-	14	1906	c.1599C>T	c.(1597-1599)gaC>gaT	p.D533D		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	533					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CAGGAGCAATGTCTGACTTCA	0.448																																																	0													67	63	64					12																	9252079		1919	4148	6067	SO:0001819	synonymous_variant	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1599C>T	12.37:g.9252079G>A			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.D533	ENST00000318602.7	37	c.1599	CCDS44827.1	12																																																																																			A2M	-	pfam_A2M_N_2	ENSG00000175899		0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	-	0	29	0	G	NM_000014		9252079	-1	tier1	-	no_errors	ENST00000318602	ensembl	human	known	74_37	silent	28.57	30	12	SNP	0.998	A	A	9252079	G	A	9252079	2	1	52	1	0	0	0	0	0	0	0	1	4	1368	48	3		3	A2M	12	9252079	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1616787	9252079	124599816	527	12867											
CLECL1	160365	genome.wustl.edu	37	chr12	9875256	9875256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatagcagtaatgtctTgaatcaccatgagatatgaa	15	11	7	8	0	3	3	2	3	1	1	3	4	3	3	2	0	1	2	2	0	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:9875256T>C	ENST00000327839.3	-	2	504	c.470A>G	c.(469-471)cAa>cGa	p.Q157R		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	157	C-type lectin; atypical.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						AGTAATGTCTTGAATCACCAT	0.378																																																	0													167	156	160					12																	9875256		2203	4300	6503	SO:0001583	missense	0			AF518873	CCDS8603.1, CCDS73441.1	12p13.31	2007-06-21				ENSG00000184293			24462	protein-coding gene	gene with protein product	"dendritic cell associated lectin 1"	607467				12421943	Standard	NM_172004		Approved	DCAL1	uc001qwi.3	Q8IZS7		ENST00000327839.3:c.470A>G	12.37:g.9875256T>C	ENSP00000331766:p.Gln157Arg			Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.Q157R	ENST00000327839.3	37	c.470	CCDS8603.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.54|10.54	1.377725|1.377725	0.24944|0.24944	.|.	.|.	ENSG00000184293|ENSG00000184293	ENST00000542530|ENST00000540988;ENST00000327839	.|T	.|0.16897	.|2.31	3.15|3.15	-1.16|-1.16	0.09678|0.09678	.|C-type lectin fold (1);C-type lectin-like (1);	.|.	.|.	.|.	.|.	T|T	0.09468|0.09468	0.0233|0.0233	N|N	0.21373|0.21373	0.66|0.66	0.09310|0.09310	N|N	1|1	.|B	.|0.14012	.|0.009	.|B	.|0.16289	.|0.015	T|T	0.39375|0.39375	-0.9617|-0.9617	5|8	.|.	.|.	.|.	.|.	6.4191|6.4191	0.21734|0.21734	0.0:0.4304:0.0:0.5696|0.0:0.4304:0.0:0.5696	.|.	.|157	.|Q8IZS7	.|CLCL1_HUMAN	E|R	109|1;157	.|ENSP00000331766:Q157R	.|.	K|Q	-|-	1|2	0|0	CLECL1|CLECL1	9766523|9766523	0.207000|0.207000	0.23482|0.23482	0.016000|0.016000	0.15963|0.15963	0.708000|0.708000	0.40852|0.40852	-0.587000|-0.587000	0.05780|0.05780	-0.347000|-0.347000	0.08299|0.08299	0.486000|0.486000	0.48141|0.48141	AAG|CAA	CLECL1	-	superfamily_C-type_lectin_fold	ENSG00000184293		0.378	CLECL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLECL1	HGNC	protein_coding	OTTHUMT00000399815.1	-	0	50	0	T	NM_172004		9875256	-1	tier1	-	no_errors	ENST00000327839	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.072	C	C	9875256	T	C	9875256	3	2	52	1	0	0	0	0	1	0	0	0	3530	1812	63	4	37	4	CLECL1	12	9875256	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	623177	9875256	123976639	528	12868											
KIAA1467	57613	genome.wustl.edu	37	chr12	13232776	13232776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgttaccaggacaacagggCcaagctccgaaggccatcca	13	5	10	13	1	0	0	0	0	0	0	2	2	2	1	5	3	3	2	5	3	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:13232776C>T	ENST00000197268.8	+	12	1816	c.1696C>T	c.(1696-1698)Cca>Tca	p.P566S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	566						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GACAACAGGGCCAAGCTCCGA	0.527																																																	0													93	82	86					12																	13232776		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1696C>T	12.37:g.13232776C>T	ENSP00000197268:p.Pro566Ser		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.P566S	ENST00000197268.8	37	c.1696	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726498	0.30593	.	.	ENSG00000084444	ENST00000197268	T	0.42131	0.98	5.51	4.6	0.57074	.	0.338850	0.35291	N	0.003311	T	0.37210	0.0995	L	0.50333	1.59	0.09310	N	1	B	0.27971	0.196	B	0.30495	0.116	T	0.37934	-0.9684	10	0.62326	D	0.03	-13.6852	8.5127	0.33226	0.2951:0.5515:0.1534:0.0	.	566	A2RU67	K1467_HUMAN	S	566	ENSP00000197268:P566S	ENSP00000197268:P566S	P	+	1	0	KIAA1467	13124043	0.635000	0.27199	0.096000	0.21009	0.892000	0.51952	1.241000	0.32743	1.258000	0.44101	0.603000	0.83216	CCA	KIAA1467	-	NULL	ENSG00000084444		0.527	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0	55	0	C	NM_020853		13232776	1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	missense	44.79	53	43	SNP	0.006	T	T	13232776	C	T	13232776	3	4	52	1	0	0	0	0	1	0	0	0	8262	739	26	3	1742	3	KIAA1467	12	13232776	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3357520	13232776	120619119	529	12869											
LMO3	55885	genome.wustl.edu	37	chr12	16713448	16713448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagcttactacaggcagcGcagtttcccgttacaccaaa	12	9	8	12	2	0	1	0	1	0	0	1	1	1	1	2	1	5	5	2	1	4	4	rs149014326		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:16713448G>A	ENST00000320122.6	-	3	753	c.231C>T	c.(229-231)tgC>tgT	p.C77C	LMO3_ENST00000534946.1_Silent_p.C77C|LMO3_ENST00000447609.1_Silent_p.C77C|LMO3_ENST00000261169.6_Silent_p.C88C|LMO3_ENST00000540848.1_Silent_p.C77C|LMO3_ENST00000354662.1_Silent_p.C77C|LMO3_ENST00000541846.1_Silent_p.C77C|LMO3_ENST00000540445.1_Silent_p.C99C|LMO3_ENST00000541295.1_Silent_p.C95C|LMO3_ENST00000535535.1_Silent_p.C77C|LMO3_ENST00000441439.2_Silent_p.C77C|LMO3_ENST00000537304.1_Silent_p.C77C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	77	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				TACAGGCAGCGCAGTTTCCCG	0.413																																																	0								G	,	0,4406		0,0,2203	118	94	102		231,231	-0.5	1	12	dbSNP_134	102	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	LMO3	NM_001001395.2,NM_018640.4	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	77/146,77/146	16713448	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.231C>T	12.37:g.16713448G>A			B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R58C	ENST00000320122.6	37	c.172	CCDS8678.1	12																																																																																			LMO3	-	pfam_Znf_LIM,pfscan_Znf_LIM	ENSG00000048540		0.413	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LMO3	HGNC	protein_coding	OTTHUMT00000401279.1	-	0	14	0	G	NM_018640		16713448	-1	tier1	rs149014326	no_errors	ENST00000453727	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	A	A	16713448	G	A	16713448	2	1	52	1	0	0	0	0	0	0	0	1	8883	1079	38	1		1	LMO3	12	16713448	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3480672	16713448	117138447	530	12870											
RECQL	5965	genome.wustl.edu	37	chr12	21623237	21623237	+	Frame_Shift_Del	DEL	T	T	-																															ctgaatttttttcctccatcTttttatcaccttgttcagaa																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:21623237delT	ENST00000444129.2	-	15	2309	c.1841delA	c.(1840-1842)aagfs	p.K614fs	RECQL_ENST00000421138.2_Frame_Shift_Del_p.K614fs|PYROXD1_ENST00000538582.1_3'UTR|PYROXD1_ENST00000240651.9_3'UTR	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	614					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTCCTCCATCTTTTTATCACC	0.358								Other identified genes with known or suspected DNA repair function																																									0													32	30	31					12																	21623237		2196	4284	6480	SO:0001589	frameshift_variant	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1841delA	12.37:g.21623237delT	ENSP00000416739:p.Lys614fs		A8K6G2	Frame_Shift_Del	DEL	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.K614fs	ENST00000444129.2	37	c.1841	CCDS31756.1	12																																																																																			RECQL	-	NULL	ENSG00000004700		0.358	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1		0	55	0	T	NM_002907		21623237	-1			no_errors	ENST00000421138	ensembl	human	known	74_37	frame_shift_del	25.93	40	14	DEL	0.018	0	-	21623237	T	-	21623237	7	5	52	1	0	1	0	1	0	0	0	0	13246	1609	56	0	112	0	RECQL	12	21623237	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	4909789	21623237	112228658	531	12871											
GYS2	2998	genome.wustl.edu	37	chr12	21715887	21715887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcctggataaggattctaGgaagatgtcagctcctttgt	10	13	11	7	0	2	1	1	0	1	1	3	4	3	4	2	3	2	1	2	3	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:21715887G>C	ENST00000261195.2	-	7	1281	c.1027C>G	c.(1027-1029)Cta>Gta	p.L343V		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	343					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGGATTCTAGGAAGATGTCA	0.393																																					Colon(149;9 1820 3690 10544 50424)												0													140	140	140					12																	21715887		2203	4300	6503	SO:0001583	missense	0				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1027C>G	12.37:g.21715887G>C	ENSP00000261195:p.Leu343Val		A0AVD8	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.L343V	ENST00000261195.2	37	c.1027	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064691	0.36470	.	.	ENSG00000111713	ENST00000261195	T	0.64618	-0.11	5.11	2.11	0.27256	.	0.077530	0.52532	D	0.000077	T	0.69324	0.3098	M	0.75264	2.295	0.42859	D	0.994109	B	0.31655	0.334	P	0.46452	0.517	T	0.70651	-0.4813	10	0.62326	D	0.03	-11.7908	9.1779	0.37123	0.3161:0.0:0.6839:0.0	.	343	P54840	GYS2_HUMAN	V	343	ENSP00000261195:L343V	ENSP00000261195:L343V	L	-	1	2	GYS2	21607154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.109000	0.31135	0.749000	0.32854	0.655000	0.94253	CTA	GYS2	-	pfam_Glycogen_synth	ENSG00000111713		0.393	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	-	0	70	0	G	NM_021957		21715887	-1	tier1	-	no_errors	ENST00000261195	ensembl	human	known	74_37	missense	47.25	48	43	SNP	0.999	C	C	21715887	G	C	21715887	3	2	52	1	0	0	0	0	1	0	0	0	6940	991	35	5	1124	5	GYS2	12	21715887	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	92650	21715887	112136008	532	12872											
DDX11	1663	genome.wustl.edu	37	chr12	31256314	31256314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctgtgcatgaaggccGtcaaccagtccataggtgag	12	7	12	10	1	1	3	1	2	0	1	2	3	2	3	4	2	3	1	4	2	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:31256314G>A	ENST00000407793.2	+	25	2767	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.R839H|DDX11_ENST00000542838.1_Missense_Mutation_p.V841I|DDX11_ENST00000350437.4_Missense_Mutation_p.V791I|DDX11_ENST00000228264.6_Missense_Mutation_p.V815I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	839					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CATGAAGGCCGTCAACCAGTC	0.632										Multiple Myeloma(12;0.14)																																							0													8	10	9					12																	31256314		2184	4232	6416	SO:0001583	missense	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2516G>A	12.37:g.31256314G>A	ENSP00000384703:p.Arg839His		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R839H	ENST00000407793.2	37	c.2516	CCDS44856.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.90|12.90	2.076103|2.076103	0.36662|0.36662	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000407793;ENST00000545668|ENST00000542838;ENST00000228264;ENST00000350437	T;T|D;D;D	0.73047|0.94000	-0.71;-0.71|-3.33;-3.33;-3.33	3.23|3.23	2.31|2.31	0.28768|0.28768	Helicase, ATP-dependent, c2 type (1);|.	.|0.821914	.|0.10750	.|N	.|0.638476	D|D	0.90587|0.90587	0.7049|0.7049	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	P|P;P;P	0.43412|0.38582	0.806|0.638;0.638;0.638	B|B;B;B	0.34722|0.35510	0.188|0.204;0.189;0.204	D|D	0.85980|0.85980	0.1482|0.1482	9|10	0.66056|0.54805	D|T	0.02|0.06	.|.	7.2792|7.2792	0.26302|0.26302	0.1428:0.0:0.8572:0.0|0.1428:0.0:0.8572:0.0	.|.	839|815;791;841	Q96FC9|Q96FC9-3;Q96FC9-4;Q96FC9-2	DDX11_HUMAN|.;.;.	H|I	839|841;815;791	ENSP00000384703:R839H;ENSP00000440402:R839H|ENSP00000443426:V841I;ENSP00000228264:V815I;ENSP00000309965:V791I	ENSP00000384703:R839H|ENSP00000228264:V815I	R|V	+|+	2|1	0|0	DDX11|DDX11	31147581|31147581	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.665000|0.665000	0.39181|0.39181	6.739000|6.739000	0.74827|0.74827	0.522000|0.522000	0.28464|0.28464	0.505000|0.505000	0.49811|0.49811	CGT|GTC	DDX11	-	smart_ATP-dep_Helicase_C	ENSG00000013573		0.632	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	-	0	64	0	G	NM_030653		31256314	1	tier1	-	no_errors	ENST00000407793	ensembl	human	known	74_37	missense	32.26	84	40	SNP	1.000	A	A	31256314	G	A	31256314	3	1	52	1	0	0	0	0	1	0	0	0	4352	1145	40	1	2615	1	DDX11	12	31256314	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	9540427	31256314	102595581	533	12873											
ABCD2	225	genome.wustl.edu	37	chr12	39947725	39947725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaacaaattaagatgtctCatcttcatttttaattgttt	14	18	3	6	0	3	1	2	0	2	1	4	1	3	1	0	0	1	1	0	0	5	7	rs572444310		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:39947725C>T	ENST00000308666.3	-	10	2347	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	738					fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAAGATGTCTCATCTTCATTT	0.318																																																	0													49	46	47					12																	39947725		2201	4298	6499	SO:0001583	missense	0			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.2212G>A	12.37:g.39947725C>T	ENSP00000310688:p.Glu738Lys		B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E738K	ENST00000308666.3	37	c.2212	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910408	0.17833	.	.	ENSG00000173208	ENST00000308666	D	0.94280	-3.39	4.44	1.51	0.23008	.	1.245250	0.05397	N	0.539993	D	0.83677	0.5306	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.71255	-0.4647	9	.	.	.	-27.193	5.0879	0.14693	0.4313:0.3978:0.0:0.1709	.	738	Q9UBJ2	ABCD2_HUMAN	K	738	ENSP00000310688:E738K	.	E	-	1	0	ABCD2	38233992	0.514000	0.26202	0.083000	0.20561	0.725000	0.41563	1.251000	0.32862	0.198000	0.20407	0.563000	0.77884	GAG	ABCD2	-	NULL	ENSG00000173208		0.318	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	-	0	46	0	C	NM_005164		39947725	-1	tier1	-	no_errors	ENST00000308666	ensembl	human	known	74_37	missense	58.33	15	21	SNP	0.407	T	T	39947725	C	T	39947725	3	4	52	1	0	0	0	0	1	0	0	0	61	835	29	3	14	3	ABCD2	12	39947725	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	8691411	39947725	93904170	534	12874											
LRRK2	120892	genome.wustl.edu	37	chr12	40699629	40699629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgaaaatctgacatctctgGatgtcagttacaacttggaa	13	13	8	7	0	3	2	1	2	2	0	4	4	3	4	0	2	2	1	0	2	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:40699629G>A	ENST00000298910.7	+	28	3878	c.3820G>A	c.(3820-3822)Gat>Aat	p.D1274N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1274					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GACATCTCTGGATGTCAGTTA	0.403																																																	0													91	89	90					12																	40699629		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3820G>A	12.37:g.40699629G>A	ENSP00000298910:p.Asp1274Asn		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.D1274N	ENST00000298910.7	37	c.3820	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884756	0.91814	.	.	ENSG00000188906	ENST00000298910	T	0.08546	3.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	N	0.25426	0.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.991	T	0.04203	-1.0969	10	0.26408	T	0.33	.	20.0897	0.97814	0.0:0.0:1.0:0.0	.	1274;1274	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1274	ENSP00000298910:D1274N	ENSP00000298910:D1274N	D	+	1	0	LRRK2	38985896	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	9.347000	0.97059	2.744000	0.94065	0.655000	0.94253	GAT	LRRK2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188906		0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	46	0	G	XM_058513		40699629	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	A	A	40699629	G	A	40699629	3	1	52	1	0	0	0	0	1	0	0	0	9068	1174	41	3	3930	3	LRRK2	12	40699629	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	751904	40699629	93152266	535	12875											
CCNT1	904	genome.wustl.edu	37	chr12	49087795	49087795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcctcttctgggcaGccaattcttctgcatgcttc	5	14	8	14	0	4	0	0	0	4	0	5	0	4	0	3	1	4	4	3	1	1	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:49087795G>A	ENST00000261900.3	-	9	1424	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	401					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTTCTGGGCAGCCAATTCTTC	0.443																																																	0													202	210	208					12																	49087795		2203	4300	6503	SO:0001583	missense	0			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1202C>T	12.37:g.49087795G>A	ENSP00000261900:p.Ala401Val		A9XU13|E7EX76|O60581	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A401V	ENST00000261900.3	37	c.1202	CCDS8766.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043513	0.75732	.	.	ENSG00000129315	ENST00000261900	T	0.23552	1.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.06373	-1.0830	10	0.28530	T	0.3	-14.249	18.0305	0.89282	0.0:0.0:1.0:0.0	.	401	O60563	CCNT1_HUMAN	V	401	ENSP00000261900:A401V	ENSP00000261900:A401V	A	-	2	0	CCNT1	47374062	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.607000	0.98328	2.634000	0.89283	0.561000	0.74099	GCT	CCNT1	-	NULL	ENSG00000129315		0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	-	0	62	0	G	NM_001240		49087795	-1	tier1	-	no_errors	ENST00000261900	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	A	A	49087795	G	A	49087795	3	1	52	1	0	0	0	0	1	0	0	0	2941	971	34	3	982	3	CCNT1	12	49087795	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	8388166	49087795	84764100	536	12876											
DDX23	9416	genome.wustl.edu	37	chr12	49226301	49226301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagcaggtcgccgaagaTagctcctggccagacgctcc	9	5	11	16	3	0	2	0	0	0	2	3	3	2	2	5	2	2	3	5	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:49226301T>C	ENST00000308025.3	-	14	1938	c.1859A>G	c.(1858-1860)tAt>tGt	p.Y620C		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	620	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCGCCGAAGATAGCTCCTGGC	0.572																																																	0													61	52	55					12																	49226301		2203	4300	6503	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1859A>G	12.37:g.49226301T>C	ENSP00000310723:p.Tyr620Cys		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y620C	ENST00000308025.3	37	c.1859	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	T	28.3	4.908818	0.92107	.	.	ENSG00000174243	ENST00000308025	T	0.05081	3.5	5.65	5.65	0.86999	DEAD-like helicase (2);	0.122411	0.56097	D	0.000022	T	0.26557	0.0649	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00666	-1.1619	10	0.87932	D	0	-11.379	14.9931	0.71406	0.0:0.0:0.0:1.0	.	620	Q9BUQ8	DDX23_HUMAN	C	620	ENSP00000310723:Y620C	ENSP00000310723:Y620C	Y	-	2	0	DDX23	47512568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.490000	0.81461	2.371000	0.80710	0.533000	0.62120	TAT	DDX23	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000174243		0.572	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2		0	15	0	T	NM_004818		49226301	-1			no_errors	ENST00000308025	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	C	C	49226301	T	C	49226301	3	2	52	1	0	0	0	0	1	0	0	0	4359	1406	49	4	619	4	DDX23	12	49226301	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	138506	49226301	84625594	537	12877											
MLL2	8085	genome.wustl.edu	37	chr12	49420213	49420213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacaaggccccccacaCggaacatgtgcagccgttct	11	5	10	15	2	1	0	0	0	1	0	1	2	1	2	4	3	4	2	4	3	3	1	rs267607237		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:49420213C>T	ENST00000301067.7	-	48	15535	c.15536G>A	c.(15535-15537)cGt>cAt	p.R5179H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5179	FYR N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00875}.		R -> H (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R4909L(1)|p.R5179L(1)									GCCCCCCACACGGAACATGTG	0.592																																																	2	Substitution - Missense(2)	lung(2)											40	42	41					12																	49420213		2121	4224	6345	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15536G>A	12.37:g.49420213C>T	ENSP00000301067:p.Arg5179His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R5179H	ENST00000301067.7	37	c.15536	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446574	0.43429	.	.	ENSG00000167548	ENST00000301067	D	0.82255	-1.59	5.12	4.23	0.50019	.	0.000000	0.35349	N	0.003273	T	0.82079	0.4959	M	0.88450	2.955	0.58432	D	0.999994	P	0.44659	0.84	B	0.30495	0.116	D	0.85064	0.0936	10	0.87932	D	0	.	12.7397	0.57243	0.0:0.9182:0.0:0.0818	.	5179	O14686	MLL2_HUMAN	H	5179	ENSP00000301067:R5179H	ENSP00000301067:R5179H	R	-	2	0	MLL2	47706480	1.000000	0.71417	0.860000	0.33809	0.990000	0.78478	7.818000	0.86416	1.295000	0.44724	0.655000	0.94253	CGT	KMT2D	-	NULL	ENSG00000167548		0.592	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	18	0	C			49420213	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.998	T	T	49420213	C	T	49420213	3	4	52	1	0	0	0	0	1	0	0	0	9659	536	19	1	1105	1	MLL2	12	49420213	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	193912	49420213	84431682	538	12878											
CALCOCO1	57658	genome.wustl.edu	37	chr12	54105819	54105819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactctcagcaggaaagCgctccttacagataggacac	12	8	9	12	1	2	1	2	0	1	1	4	3	3	3	1	2	3	2	1	2	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:54105819C>T	ENST00000550804.1	-	15	2045	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R661H|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R577H|CALCOCO1_ENST00000548263.1_3'UTR			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	662	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCAGGAAAGCGCTCCTTACA	0.542																																																	0													168	145	153					12																	54105819		2203	4300	6503	SO:0001583	missense	0			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1985G>A	12.37:g.54105819C>T	ENSP00000449960:p.Arg662His		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.R662H	ENST00000550804.1	37	c.1985	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	c	14.41	2.526850	0.44969	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000550804	T;T;T	0.35421	1.31;2.84;2.77	4.26	3.36	0.38483	.	0.224065	0.23169	N	0.051151	T	0.20861	0.0502	N	0.14661	0.345	0.35451	D	0.79567	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.001;0.002	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.001;0.001	T	0.16276	-1.0408	10	0.49607	T	0.09	-8.0488	9.7227	0.40313	0.0:0.8964:0.0:0.1036	.	577;661;577;662;363	E9PAU0;Q9P1Z2-3;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;CACO1_HUMAN;.	H	363;577;661;600;662	ENSP00000397189:R577H;ENSP00000262059:R661H;ENSP00000449960:R662H	ENSP00000262059:R661H	R	-	2	0	CALCOCO1	52392086	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.188000	0.32102	2.386000	0.81285	0.457000	0.33378	CGC	CALCOCO1	-	NULL	ENSG00000012822		0.542	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	-	0	63	0	C	NM_020898		54105819	-1	tier1	-	no_errors	ENST00000550804	ensembl	human	known	74_37	missense	47.89	37	34	SNP	1.000	T	T	54105819	C	T	54105819	3	4	52	1	0	0	0	0	1	0	0	0	2584	768	27	1	94	1	CALCOCO1	12	54105819	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4685606	54105819	79746076	539	12879											
RPS26	6231	genome.wustl.edu	37	chr12	56436335	56436336	+	Frame_Shift_Del	DEL	AT	AT	-																															agaaattcgtcattcgaaacAtagtggaggccgcagcagtc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:56436335_56436336delAT	ENST00000356464.5	+	2	444_445	c.130_131delAT	c.(130-132)atafs	p.I44fs	RP11-603J24.4_ENST00000551846.1_RNA|RPS26_ENST00000552361.1_Frame_Shift_Del_p.I44fs			P62854	RS26_HUMAN	ribosomal protein S26	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CATTCGAAACATAGTGGAGGCC	0.55																																																	0																																										SO:0001589	frameshift_variant	0			AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"S ribosomal proteins"	10414	protein-coding gene	gene with protein product	"40S ribosomal protein S26"	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.130_131delAT	12.37:g.56436335_56436336delAT	ENSP00000348849:p.Ile44fs		P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Frame_Shift_Del	DEL	pfam_Ribosomal_S26e	p.I44fs	ENST00000356464.5	37	c.130_131	CCDS31832.1	12																																																																																			RPS26	-	pfam_Ribosomal_S26e	ENSG00000197728		0.55	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS26	HGNC	protein_coding	OTTHUMT00000407616.1		0	50	0	AT	NM_001029		56436336	1	tier1		no_errors	ENST00000356464	ensembl	human	known	74_37	frame_shift_del	33.00	67	33	DEL	1.000:0.998	-	-	56436336	AT	-	56436335	7	5	52	1	0	1	0	1	0	0	0	0	13682	217	8	0	136	0	RPS26	12	56436335	Frame_Shift_Del	DEL	AT	TCGA-L5-A43J-01A-12D-A247-09	2330516	56436335	77415560	540	12880											
LRP1	4035	genome.wustl.edu	37	chr12	57579515	57579515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgagcgcaacctcaatgCgcccgtgcagcccttcgagg	8	6	13	14	4	1	1	1	1	0	0	2	3	1	2	3	2	5	2	3	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:57579515C>T	ENST00000243077.3	+	41	7131	c.6665C>T	c.(6664-6666)gCg>gTg	p.A2222V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2222					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AACCTCAATGCGCCCGTGCAG	0.612																																																	0													106	85	92					12																	57579515		2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6665C>T	12.37:g.57579515C>T	ENSP00000243077:p.Ala2222Val		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A2222V	ENST00000243077.3	37	c.6665	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399226	0.83120	.	.	ENSG00000123384	ENST00000243077	D	0.91237	-2.81	4.87	4.87	0.63330	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	T	0.80270	0.4592	N	0.17379	0.485	0.80722	D	1	P	0.38711	0.643	B	0.24155	0.051	T	0.80555	-0.1330	10	0.24483	T	0.36	.	16.7727	0.85543	0.0:1.0:0.0:0.0	.	2222	Q07954	LRP1_HUMAN	V	2222	ENSP00000243077:A2222V	ENSP00000243077:A2222V	A	+	2	0	LRP1	55865782	1.000000	0.71417	0.536000	0.28039	0.900000	0.52787	7.818000	0.86416	2.244000	0.73946	0.491000	0.48974	GCG	LRP1	-	NULL	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0	36	0	C	NM_002332		57579515	1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	T	T	57579515	C	T	57579515	3	4	52	1	0	0	0	0	1	0	0	0	8986	768	27	1	6827	1	LRP1	12	57579515	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1143180	57579515	76272380	541	12881											
ARHGAP9	64333	genome.wustl.edu	37	chr12	57871263	57871263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgctgcgactgcggcgCgggggcttccaggacttgca	4	8	16	13	5	1	0	0	0	1	0	3	2	2	1	1	4	3	3	1	4	0	2	rs548695816		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:57871263C>T	ENST00000356411.2	-	4	873	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ARHGAP9_ENST00000550288.1_Silent_p.P324P|ARHGAP9_ENST00000393797.2_Silent_p.P316P|ARHGAP9_ENST00000424809.2_Silent_p.P245P|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393791.3_Silent_p.P245P|ARHGAP9_ENST00000430041.2_Silent_p.P61P			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	245	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GACTGCGGCGCGGGGGCTTCC	0.582													C|||	1	0.000199681	0	0	5008	,	,		16187	0		0	False		,,,				2504	0.001																0													55	61	59					12																	57871263		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.735G>A	12.37:g.57871263C>T			B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.P245	ENST00000356411.2	37	c.735		12																																																																																			ARHGAP9	-	superfamily_WW_dom,pfscan_WW_dom	ENSG00000123329		0.582	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding		-	0	29	0	C	NM_032496		57871263	-1	tier1	-	no_errors	ENST00000356411	ensembl	human	known	74_37	silent	40.00	33	22	SNP	0.491	T	T	57871263	C	T	57871263	2	4	52	1	0	0	0	0	0	0	0	1	889	755	27	1		1	ARHGAP9	12	57871263	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	291748	57871263	75980632	542	12882											
OS9	10956	genome.wustl.edu	37	chr12	58112063	58112063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgaggatgaggatgaGgatgaagatgaggatgaacg	15	6	19	1	1	0	7	0	6	0	1	0	13	0	12	0	5	1	0	0	5	2	0	rs547241583		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:58112063G>A	ENST00000315970.7	+	11	1310	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	OS9_ENST00000413095.2_Silent_p.E217E|OS9_ENST00000439210.2_Silent_p.E364E|OS9_ENST00000257966.8_Silent_p.E424E|OS9_ENST00000435406.2_Silent_p.E371E|OS9_ENST00000389142.5_Silent_p.E423E|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Silent_p.E423E|OS9_ENST00000552285.1_Silent_p.E423E|OS9_ENST00000551035.1_Silent_p.E391E	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	423	Asp/Glu-rich (acidic).				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			atgaggatgaggatgaagatg	0.532																																																	0													244	205	218					12																	58112063		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1269G>A	12.37:g.58112063G>A			A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E423	ENST00000315970.7	37	c.1269	CCDS31843.1	12																																																																																			OS9	-	NULL	ENSG00000135506		0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	-	0	20	0	G	NM_006812		58112063	1	tier1	-	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	56.14	25	32	SNP	0.976	A	A	58112063	G	A	58112063	2	1	52	1	0	0	0	0	0	0	0	1	11311	991	35	3		3	OS9	12	58112063	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	240800	58112063	75739832	543	12883											
LRIG3	121227	genome.wustl.edu	37	chr12	59270334	59270334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctgcctgtcagctaacGttccctgagatgacaaataa	12	10	7	12	1	1	2	1	2	0	1	3	3	3	2	3	0	3	2	3	0	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:59270334G>A	ENST00000320743.3	-	16	2874	c.2588C>T	c.(2587-2589)aCg>aTg	p.T863M	LRIG3_ENST00000379141.4_Missense_Mutation_p.T803M	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	863					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GTCAGCTAACGTTCCCTGAGA	0.423			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													150	128	135					12																	59270334		2203	4300	6503	SO:0001583	missense	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2588C>T	12.37:g.59270334G>A	ENSP00000326759:p.Thr863Met		Q6UXL7|Q8NC72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T863M	ENST00000320743.3	37	c.2588	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713544	0.89112	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.66460	-0.15;-0.21	5.75	5.75	0.90469	.	0.000000	0.38164	N	0.001799	D	0.82595	0.5071	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.71656	0.957;0.974	T	0.81929	-0.0708	9	.	.	.	.	19.9376	0.97146	0.0:0.0:1.0:0.0	.	803;863	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	M	803;863	ENSP00000368436:T803M;ENSP00000326759:T863M	.	T	-	2	0	LRIG3	57556601	1.000000	0.71417	0.124000	0.21820	0.990000	0.78478	9.799000	0.99117	2.711000	0.92665	0.655000	0.94253	ACG	LRIG3	-	NULL	ENSG00000139263		0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	-	0	35	0	G	NM_153377		59270334	-1	tier1	-	no_errors	ENST00000320743	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.999	A	A	59270334	G	A	59270334	3	1	52	1	0	0	0	0	1	0	0	0	8981	1145	40	1	787	1	LRIG3	12	59270334	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1158271	59270334	74581561	544	12884											
GRIP1	23426	genome.wustl.edu	37	chr12	66990679	66990679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatcaggcggctttgtctgGctggcggatttagtgtaggg	5	12	16	8	2	2	0	1	0	1	0	2	1	2	1	1	6	0	3	1	6	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:66990679G>A	ENST00000398016.3	-	2	152	c.84C>T	c.(82-84)agC>agT	p.S28S	GRIP1_ENST00000286445.7_Silent_p.S28S|GRIP1_ENST00000359742.4_Silent_p.S28S	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCTTTGTCTGGCTGGCGGATT	0.448																																																	0													106	110	109					12																	66990679		1899	4124	6023	SO:0001819	synonymous_variant	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.84C>T	12.37:g.66990679G>A			B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S28	ENST00000398016.3	37	c.84	CCDS41807.1	12																																																																																			GRIP1	-	superfamily_PDZ	ENSG00000155974		0.448	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0	35	0	G			66990679	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	silent	40.00	21	14	SNP	1.000	A	A	66990679	G	A	66990679	2	1	52	1	0	0	0	0	0	0	0	1	6814	1194	42	3		3	GRIP1	12	66990679	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	7720345	66990679	66861216	545	12885											
MDM2	4193	genome.wustl.edu	37	chr12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-																															cttcatgcaatgaaatgaatCccccccttccatcacattgc																								rs577942747		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:69233090delC	ENST00000350057.5	+	9	862	c.862delC	c.(862-864)cccfs	p.P289fs	MDM2_ENST00000462284.1_Frame_Shift_Del_p.P320fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	314	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"sarcoma, glioma, colorectal, other"																																			Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	0													114	100	105					12																	69233090		1877	4119	5996	SO:0001589	frameshift_variant	0				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.862delC	12.37:g.69233090delC	ENSP00000266624:p.Pro289fs		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Frame_Shift_Del	DEL	pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.L321fs	ENST00000350057.5	37	c.955		12																																																																																			MDM2	-	pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2	ENSG00000135679		0.428	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	HGNC	protein_coding	OTTHUMT00000402665.1		0	23	0	C	NM_006880		69233090	1	tier1		no_errors	ENST00000462284	ensembl	human	known	74_37	frame_shift_del	20.00	28	7	DEL	1.000	-	-	69233090	C	-	69233090	7	5	52	1	0	1	0	1	0	0	0	0	9451	855	30	0	997	0	MDM2	12	69233090	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	2242411	69233090	64618805	546	12886											
KCNMB4	27345	genome.wustl.edu	37	chr12	70824403	70824403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagcttggcggtcaaggcGgaagccatgaagaagcgcaa	14	4	15	8	3	1	3	1	1	0	2	1	4	1	4	1	4	3	2	1	4	6	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:70824403G>A	ENST00000258111.4	+	3	1062	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	201					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	CGGTCAAGGCGGAAGCCATGA	0.547																																																	0													77	69	72					12																	70824403		2203	4300	6503	SO:0001819	synonymous_variant	0			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"Potassium channels"	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.603G>A	12.37:g.70824403G>A			Q8IVR3|Q9NPA4|Q9P0G5	Silent	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.A201	ENST00000258111.4	37	c.603	CCDS8997.1	12																																																																																			KCNMB4	-	pfam_K_chnl_Ca-activ_BK_bsu	ENSG00000135643		0.547	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB4	HGNC	protein_coding	OTTHUMT00000395208.1	-	0	26	0	G	NM_014505		70824403	1	tier1	-	no_errors	ENST00000258111	ensembl	human	known	74_37	silent	26.42	39	14	SNP	0.964	A	A	70824403	G	A	70824403	2	1	52	1	0	0	0	0	0	0	0	1	8104	1103	39	1		1	KCNMB4	12	70824403	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1591313	70824403	63027492	547	12887											
KCNC2	3747	genome.wustl.edu	37	chr12	75601161	75601161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggccagatttgccgtcGgggcccccgagccccgccgc	4	4	14	19	6	0	1	0	0	0	1	1	2	0	1	7	3	3	0	7	3	0	1	rs200758140		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:75601161G>A	ENST00000549446.1	-	2	1283	c.603C>T	c.(601-603)ccC>ccT	p.P201P	KCNC2_ENST00000548513.1_Silent_p.P201P|KCNC2_ENST00000341669.3_Silent_p.P201P|KCNC2_ENST00000350228.2_Silent_p.P201P|KCNC2_ENST00000393288.2_Silent_p.P201P|KCNC2_ENST00000298972.1_Silent_p.P201P|KCNC2_ENST00000550433.1_Silent_p.P201P|KCNC2_ENST00000540018.1_Silent_p.P201P	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	201					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ATTTGCCGTCGGGGCCCCCGA	0.701																																																	0													10	9	9					12																	75601161		2156	4182	6338	SO:0001819	synonymous_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.603C>T	12.37:g.75601161G>A			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.P201	ENST00000549446.1	37	c.603	CCDS9007.1	12																																																																																			KCNC2	-	NULL	ENSG00000166006		0.701	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNC2	HGNC	protein_coding	OTTHUMT00000405581.2	-	0	53	0	G	NM_153748		75601161	-1	tier1	-	no_errors	ENST00000549446	ensembl	human	known	74_37	silent	57.46	57	77	SNP	0.346	A	A	75601161	G	A	75601161	2	1	52	1	0	0	0	0	0	0	0	1	8042	1103	39	1		1	KCNC2	12	75601161	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4776758	75601161	58250734	548	12888											
PPFIA2	8499	genome.wustl.edu	37	chr12	81671195	81671195	+	Splice_Site	DEL	T	T	-																															tccatattgtaaacttgttcTtttttttttattaaaaaaaa																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:81671195delT	ENST00000549396.1	-	28	3373		c.e28-2		PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000333447.7_Frame_Shift_Del_p.R1059fs|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|PPFIA2_ENST00000541017.1_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2						cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACTTGTTCtttttttttta	0.333																																																	0									,,,,,,,,	31,81,3200		1,0,29,4,73,1549	43	38	40		,,,,,,,,	5.7	1	12		43	81,103,7316		0,0,81,6,91,3572	no	splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3,splice-3	PPFIA2	NM_003625.3,NM_001220480.1,NM_001220479.1,NM_001220478.1,NM_001220477.1,NM_001220476.1,NM_001220475.1,NM_001220474.1,NM_001220473.1	,,,,,,,,	1,0,110,10,164,5121	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4533,3.3816,2.7377	,,,,,,,,	,,,,,,,,	81671195	112,184,10516	1760	4021	5781	SO:0001630	splice_region_variant	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3213-2A>-	12.37:g.81671195delT			B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_tRNA-bd_arm,smart_SAM,pfscan_SAM	p.R1059fs	ENST00000549396.1	37	c.3175	CCDS55857.1	12																																																																																			PPFIA2	-	superfamily_SAM/pointed,smart_SAM	ENSG00000139220		0.333	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1		0	27	0	T		Intron	81671195	-1	tier1		no_errors	ENST00000333447	ensembl	human	known	74_37	frame_shift_del	20.83	19	5	DEL	1.000	-	-	81671195	T	-	81671195	8	5	52	1	0	1	0	1	0	0	1	0	12349	1623	56	0	582	0	PPFIA2	12	81671195	Splice_Site	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	6070034	81671195	52180700	549	12889											
C12orf12	196477	genome.wustl.edu	37	chr12	91348469	91348469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacagccgccgccgccAccgccgcccaggttcagagg	7	2	12	20	5	1	1	1	0	0	1	1	1	1	1	8	2	2	1	8	2	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:91348469A>G	ENST00000358859.2	-	1	484	c.51T>C	c.(49-51)ggT>ggC	p.G17G	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	17	Poly-Gly.																cgccgccgccaccgccgccCA	0.647																																																	0													8	6	7					12																	91348469		2014	4058	6072	SO:0001819	synonymous_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.51T>C	12.37:g.91348469A>G			Q8TC47	Silent	SNP	NULL	p.G17	ENST00000358859.2	37	c.51	CCDS9036.1	12																																																																																			CCER1	-	NULL	ENSG00000197651		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	-	0	25	0	A	NM_152638		91348469	-1	tier1	-	no_errors	ENST00000358859	ensembl	human	known	74_37	silent	21.57	40	11	SNP	0.537	G	G	91348469	A	G	91348469	2	3	52	1	0	0	0	0	0	0	0	1	1681	146	6	4		4	C12orf12	12	91348469	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	9677274	91348469	42503426	550	12890											
CCDC38	120935	genome.wustl.edu	37	chr12	96271999	96271999	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatttacctgagcatctGaattaaattctccaaagcta	14	13	6	8	0	2	3	0	3	2	0	3	3	2	3	2	0	3	2	2	0	6	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:96271999G>T	ENST00000344280.3	-	13	1825	c.1268C>A	c.(1267-1269)tCa>tAa	p.S423*	SNRPF_ENST00000553192.1_Intron|SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	423										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGAGCATCTGAATTAAATTC	0.353																																																	0													90	89	89					12																	96271999		2203	4300	6503	SO:0001587	stop_gained	0			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.1268C>A	12.37:g.96271999G>T	ENSP00000345470:p.Ser423*		Q8N835	Nonsense_Mutation	SNP	NULL	p.S423*	ENST00000344280.3	37	c.1268	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520924	0.85495	.	.	ENSG00000165972	ENST00000344280	.	.	.	5.82	4.92	0.64577	.	0.376195	0.27622	N	0.018553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.0067	11.4628	0.50221	0.0835:0.0:0.9165:0.0	.	.	.	.	X	423	.	ENSP00000345470:S423X	S	-	2	0	CCDC38	94796130	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.968000	0.56809	2.756000	0.94617	0.561000	0.74099	TCA	CCDC38	-	NULL	ENSG00000165972		0.353	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1		0	25	0	G	NM_182496		96271999	-1			no_errors	ENST00000344280	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	1.000	T	T	96271999	G	T	96271999	4	4	52	1	0	0	0	0	0	1	0	0	2817	1294	45	3	439	3	CCDC38	12	96271999	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4923530	96271999	37579896	551	12891											
NT5DC3	51559	genome.wustl.edu	37	chr12	104187260	104187260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttggccaacactgcgCgggtctgctcagcatagcag	8	8	12	13	2	2	0	1	0	1	0	2	0	2	0	2	2	5	4	2	2	2	2	rs200566738		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:104187260C>T	ENST00000392876.3	-	8	885	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	282						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAACACTGCGCGGGTCTGCTC	0.423																																																	0								C	HIS/ARG	0,4406		0,0,2203	90	82	85		845	6	0.9	12		85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NT5DC3	NM_001031701.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	282/549	104187260	1,13005	2203	4300	6503	SO:0001583	missense	0			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.845G>A	12.37:g.104187260C>T	ENSP00000376615:p.Arg282His		Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.R282H	ENST00000392876.3	37	c.845	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871216	0.33069	0.0	1.16E-4	ENSG00000111696	ENST00000392876	T	0.23147	1.92	5.99	5.99	0.97316	HAD-like domain (2);	0.095252	0.85682	D	0.000000	T	0.10852	0.0265	N	0.02357	-0.585	0.48901	D	0.999721	B	0.18610	0.029	B	0.15484	0.013	T	0.30736	-0.9968	10	0.14656	T	0.56	-15.4371	13.6422	0.62257	0.0:0.9298:0.0:0.0702	.	282	Q86UY8	NT5D3_HUMAN	H	282	ENSP00000376615:R282H	ENSP00000376615:R282H	R	-	2	0	NT5DC3	102711390	1.000000	0.71417	0.920000	0.36463	0.779000	0.44077	4.914000	0.63348	2.840000	0.97914	0.655000	0.94253	CGC	NT5DC3	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	ENSG00000111696		0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	-	0	29	0	C	NM_016575		104187260	-1	tier1	rs200566738	no_errors	ENST00000392876	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.997	T	T	104187260	C	T	104187260	3	4	52	1	0	0	0	0	1	0	0	0	10731	768	27	1	829	1	NT5DC3	12	104187260	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	7915261	104187260	29664635	552	12892											
HSP90B1	7184	genome.wustl.edu	37	chr12	104341424	104341424	+	Frame_Shift_Del	DEL	A	A	-																															tttacaggaatctacagctgAaaaagatgaattgtaaatta																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:104341424delA	ENST00000299767.5	+	18	2578	c.2396delA	c.(2395-2397)gaafs	p.E799fs	C12orf73_ENST00000543740.2_5'Flank	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	799					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCTACAGCTGAAAAAGATGAA	0.323																																																	0													62	64	63					12																	104341424		2203	4300	6503	SO:0001589	frameshift_variant	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.2396delA	12.37:g.104341424delA	ENSP00000299767:p.Glu799fs		Q96A97	Frame_Shift_Del	DEL	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.D801fs	ENST00000299767.5	37	c.2396	CCDS9094.1	12																																																																																			HSP90B1	-	NULL	ENSG00000166598		0.323	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1		0	50	0	A	NM_003299		104341424	1	tier1		no_errors	ENST00000299767	ensembl	human	known	74_37	frame_shift_del	52.54	28	31	DEL	0.998	-	-	104341424	A	-	104341424	7	5	52	1	0	1	0	1	0	0	0	0	7430	246	9	0	2466	0	HSP90B1	12	104341424	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	154164	104341424	29510471	553	12893											
TCHP	84260	genome.wustl.edu	37	chr12	110350842	110350842	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagaggcagagtgggccCgagagcgcagcgcacgggac	11	1	19	10	4	0	4	0	0	0	4	0	7	0	5	1	3	2	3	1	3	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:110350842C>T	ENST00000312777.5	+	10	1313	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	TCHP_ENST00000405876.4_Nonsense_Mutation_p.R367*	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AGAGTGGGCCCGAGAGCGCAG	0.627																																																	0													87	71	76					12																	110350842		2203	4300	6503	SO:0001587	stop_gained	0			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1099C>T	12.37:g.110350842C>T	ENSP00000324404:p.Arg367*			Nonsense_Mutation	SNP	NULL	p.R367*	ENST00000312777.5	37	c.1099	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886039	0.91814	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	.	.	.	5.09	4.14	0.48551	.	0.307711	0.30752	N	0.008959	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0513	11.4262	0.50012	0.2743:0.7257:0.0:0.0	.	.	.	.	X	367;367;11	.	ENSP00000324404:R367X	R	+	1	2	TCHP	108835225	0.998000	0.40836	1.000000	0.80357	0.873000	0.50193	3.354000	0.52254	2.503000	0.84419	0.650000	0.86243	CGA	TCHP	-	NULL	ENSG00000139437		0.627	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	-	0	28	0	C	NM_032300		110350842	1	tier1	-	no_errors	ENST00000312777	ensembl	human	known	74_37	nonsense	25.93	40	14	SNP	1.000	T	T	110350842	C	T	110350842	4	4	52	1	0	0	0	0	0	1	0	0	15749	644	23	1	1133	1	TCHP	12	110350842	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6009418	110350842	23501053	554	12894											
TCHP	84260	genome.wustl.edu	37	chr12	110353217	110353217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcactcaggttgcagagCgccggctgcaggcatgggaa	8	7	16	10	2	1	1	1	0	0	1	1	2	1	2	1	5	3	6	1	5	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:110353217C>T	ENST00000312777.5	+	12	1544	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	TCHP_ENST00000405876.4_Missense_Mutation_p.R444C	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GGTTGCAGAGCGCCGGCTGCA	0.652																																																	0													53	55	54					12																	110353217		2203	4300	6503	SO:0001583	missense	0			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"mitostatin"	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.1330C>T	12.37:g.110353217C>T	ENSP00000324404:p.Arg444Cys			Missense_Mutation	SNP	NULL	p.R444C	ENST00000312777.5	37	c.1330	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710018	0.68730	.	.	ENSG00000139437	ENST00000405876;ENST00000312777;ENST00000551627	T;T	0.11712	2.75;2.75	5.84	5.84	0.93424	.	0.423540	0.24424	N	0.038645	T	0.34221	0.0890	M	0.76002	2.32	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	T	0.01424	-1.1358	10	0.72032	D	0.01	-9.9071	15.6382	0.76973	0.0:1.0:0.0:0.0	.	444	Q9BT92	TCHP_HUMAN	C	444;444;88	ENSP00000384520:R444C;ENSP00000324404:R444C	ENSP00000324404:R444C	R	+	1	0	TCHP	108837600	0.999000	0.42202	1.000000	0.80357	0.345000	0.29048	2.543000	0.45752	2.763000	0.94921	0.650000	0.86243	CGC	TCHP	-	NULL	ENSG00000139437		0.652	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	-	0	34	0	C	NM_032300		110353217	1	tier1	-	no_errors	ENST00000312777	ensembl	human	known	74_37	missense	52.17	22	24	SNP	1.000	T	T	110353217	C	T	110353217	3	4	52	1	0	0	0	0	1	0	0	0	15749	768	27	1	1372	1	TCHP	12	110353217	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2375	110353217	23498678	555	12895											
ATP2A2	488	genome.wustl.edu	37	chr12	110777173	110777173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttactgtacaccaaataaaCcaagcaggacatcaatgagc	17	8	6	10	0	1	1	1	1	0	0	1	2	1	2	2	1	5	2	2	1	7	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:110777173C>T	ENST00000539276.2	+	12	1616	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	ATP2A2_ENST00000308664.6_Missense_Mutation_p.P503S|ATP2A2_ENST00000395494.2_Missense_Mutation_p.P476S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	503					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ACCAAATAAACCAAGCAGGAC	0.403																																																	0													116	105	109					12																	110777173		2203	4300	6503	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1507C>T	12.37:g.110777173C>T	ENSP00000440045:p.Pro503Ser		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.P503S	ENST00000539276.2	37	c.1507	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.613788|1.613788	0.28712|0.28712	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.82081|.	-1.57;-1.57;-1.57|.	5.85|5.85	4.96|4.96	0.65561|0.65561	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.069164|.	0.64402|.	N|.	0.000010|.	T|T	0.38268|0.38268	0.1034|0.1034	N|N	0.05510|0.05510	-0.035|-0.035	0.46298|0.46298	D|D	0.998977|0.998977	B;B;B|.	0.09022|.	0.002;0.001;0.002|.	B;B;B|.	0.15870|.	0.008;0.004;0.014|.	T|T	0.26467|0.26467	-1.0102|-1.0102	10|5	0.05833|.	T|.	0.94|.	.|.	15.0094|15.0094	0.71539|0.71539	0.0:0.9317:0.0:0.0683|0.0:0.9317:0.0:0.0683	.|.	476;503;503|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	S|I	503;476;503|393	ENSP00000311186:P503S;ENSP00000378872:P476S;ENSP00000440045:P503S|.	ENSP00000311186:P503S|.	P|T	+|+	1|2	0|0	ATP2A2|ATP2A2	109261556|109261556	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	2.481000|2.481000	0.45215|0.45215	1.488000|1.488000	0.48433|0.48433	0.563000|0.563000	0.77884|0.77884	CCA|ACC	ATP2A2	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000174437		0.403	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	-	0	25	0	C	NM_001681		110777173	1	tier1	-	no_errors	ENST00000539276	ensembl	human	known	74_37	missense	66.67	11	22	SNP	1.000	T	T	110777173	C	T	110777173	3	4	52	1	0	0	0	0	1	0	0	0	1138	507	18	3	1553	3	ATP2A2	12	110777173	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	423956	110777173	23074722	556	12896											
CUX2	23316	genome.wustl.edu	37	chr12	111748477	111748477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcaggaccatccaagtgCggcagcgaggtgagtgccca	9	5	14	13	3	1	1	1	1	0	0	2	3	2	2	3	3	3	2	3	3	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:111748477C>T	ENST00000261726.6	+	15	2045	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	631					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CATCCAAGTGCGGCAGCGAGG	0.637																																																	0													26	29	28					12																	111748477		2061	4190	6251	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1891C>T	12.37:g.111748477C>T	ENSP00000261726:p.Arg631Trp		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R631W	ENST00000261726.6	37	c.1891	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	C	16.24	3.068530	0.55539	.	.	ENSG00000111249	ENST00000261726	T	0.57436	0.4	4.75	3.83	0.44106	Homeodomain protein CUT (1);Lambda repressor-like, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.65553	-0.6140	10	0.87932	D	0	-30.141	13.7788	0.63071	0.1599:0.8401:0.0:0.0	.	631	O14529	CUX2_HUMAN	W	631	ENSP00000261726:R631W	ENSP00000261726:R631W	R	+	1	2	CUX2	110232860	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	3.867000	0.56047	0.930000	0.37217	0.305000	0.20034	CGG	CUX2	-	superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000111249		0.637	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	13	0	C	NM_015267		111748477	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	111748477	C	T	111748477	3	4	52	1	0	0	0	0	1	0	0	0	4074	759	27	1	1949	1	CUX2	12	111748477	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	971304	111748477	22103418	557	12897											
C12orf51	283450	genome.wustl.edu	37	chr12	112630932	112630932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccccggggaaattcaCgtccatgttgactttggatt	8	12	11	10	2	1	1	1	1	0	0	2	3	2	3	3	3	2	2	3	3	1	4	rs374889610		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:112630932C>T	ENST00000430131.2	-	57	8898	c.7753G>A	c.(7753-7755)Gtg>Atg	p.V2585M	HECTD4_ENST00000377560.5_Missense_Mutation_p.V2835M|HECTD4_ENST00000550722.1_Missense_Mutation_p.V2861M			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2585					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGGAAATTCACGTCCATGTTG	0.473																																																	0								C	MET/VAL	0,3696		0,0,1848	54	53	54		8503	5.4	1	12		54	1,8209		0,1,4104	no	missense	C12orf51	NM_001109662.2	21	0,1,5952	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	2835/4247	112630932	1,11905	1848	4105	5953	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7753G>A	12.37:g.112630932C>T	ENSP00000404379:p.Val2585Met		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.V2835M	ENST00000430131.2	37	c.8503		12	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937516	0.92458	0.0	1.22E-4	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56444	0.46;0.47;0.46	5.44	5.44	0.79542	.	.	.	.	.	T	0.63034	0.2477	L	0.27053	0.805	0.58432	D	0.999997	D	0.71674	0.998	D	0.73708	0.981	T	0.67074	-0.5762	9	0.87932	D	0	.	19.2698	0.94004	0.0:1.0:0.0:0.0	.	2585	Q9Y4D8	K0614_HUMAN	M	2835;2585;2861	ENSP00000366783:V2835M;ENSP00000404379:V2585M;ENSP00000449784:V2861M	ENSP00000366783:V2835M	V	-	1	0	C12orf51	111115315	1.000000	0.71417	0.987000	0.45799	0.793000	0.44817	5.675000	0.68123	2.556000	0.86216	0.591000	0.81541	GTG	HECTD4	-	NULL	ENSG00000173064		0.473	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	49	0	C	NM_173813		112630932	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	T	T	112630932	C	T	112630932	3	4	52	1	0	0	0	0	1	0	0	0	1701	536	19	1	4313	1	C12orf51	12	112630932	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	882455	112630932	21220963	558	12898											
SDS	10993	genome.wustl.edu	37	chr12	113831717	113831717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacgaacttctcaatggcgGccacagcctcctggtccgag	8	7	10	16	3	1	0	1	0	1	0	4	2	3	0	5	3	2	0	5	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:113831717G>A	ENST00000257549.4	-	7	880	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	253					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	CTCAATGGCGGCCACAGCCTC	0.587																																																	0													90	82	85					12																	113831717		2203	4300	6503	SO:0001583	missense	0			J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"L-serine ammonia-lyase"	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.758C>T	12.37:g.113831717G>A	ENSP00000257549:p.Ala253Val		A8K9P5	Missense_Mutation	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.A253V	ENST00000257549.4	37	c.758	CCDS9169.1	12	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234141	0.39498	.	.	ENSG00000135094	ENST00000257549	D	0.97114	-4.25	5.67	1.68	0.24146	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.836392	0.10833	N	0.629119	D	0.93874	0.8040	L	0.57536	1.79	0.09310	N	0.999999	B	0.21606	0.058	B	0.21546	0.035	D	0.87349	0.2336	10	0.72032	D	0.01	-9.006	0.5939	0.00733	0.2942:0.1719:0.3574:0.1765	.	253	P20132	SDHL_HUMAN	V	253	ENSP00000257549:A253V	ENSP00000257549:A253V	A	-	2	0	SDS	112316100	0.000000	0.05858	0.967000	0.41034	0.938000	0.57974	0.199000	0.17237	1.411000	0.46957	0.561000	0.74099	GCC	SDS	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	ENSG00000135094		0.587	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDS	HGNC	protein_coding	OTTHUMT00000404790.1	-	0	13	0	G	NM_006843		113831717	-1	tier1	-	no_errors	ENST00000257549	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.294	A	A	113831717	G	A	113831717	3	1	52	1	0	0	0	0	1	0	0	0	14020	1203	42	3	236	3	SDS	12	113831717	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1200785	113831717	20020178	559	12899											
MED13L	23389	genome.wustl.edu	37	chr12	116418612	116418612	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccaaatcccgtgagggaTttaatgtggatctgtgtagg	9	11	14	7	1	1	1	0	1	1	0	2	3	2	3	2	4	0	1	2	4	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:116418612T>C	ENST00000281928.3	-	23	5513	c.5307A>G	c.(5305-5307)aaA>aaG	p.K1769K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1769						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCGTGAGGGATTTAATGTGGA	0.448																																																	0													98	98	98					12																	116418612		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5307A>G	12.37:g.116418612T>C			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.K1769	ENST00000281928.3	37	c.5307	CCDS9177.1	12																																																																																			MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.448	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	35	0	T			116418612	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	silent	53.49	20	23	SNP	1.000	C	C	116418612	T	C	116418612	2	2	52	1	0	0	0	0	0	0	0	1	9469	1490	52	4		4	MED13L	12	116418612	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2586895	116418612	17433283	560	12900											
RNF10	9921	genome.wustl.edu	37	chr12	120984267	120984267	+	Frame_Shift_Del	DEL	A	A	-																															aacgtgaactttcctaccccAaaaatgaaagttttaacaac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:120984267delA	ENST00000325954.4	+	2	678	c.217delA	c.(217-219)aaafs	p.K73fs	RNF10_ENST00000413266.2_Frame_Shift_Del_p.K73fs	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	73	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCCTACCCCAAAAATGAAAG	0.443																																																	0													110	111	111					12																	120984267		2203	4300	6503	SO:0001589	frameshift_variant	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.217delA	12.37:g.120984267delA	ENSP00000322242:p.Lys73fs		Q92550|Q9NPP8|Q9ULW4	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.N74fs	ENST00000325954.4	37	c.217	CCDS9201.1	12																																																																																			RNF10	-	NULL	ENSG00000022840		0.443	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4		0	26	0	A			120984267	1	tier1		no_errors	ENST00000413266	ensembl	human	known	74_37	frame_shift_del	34.62	17	9	DEL	1.000	-	-	120984267	A	-	120984267	7	5	52	1	0	1	0	1	0	0	0	0	13467	131	5	0	223	0	RNF10	12	120984267	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	4565655	120984267	12867628	561	12901											
B3GNT4	79369	genome.wustl.edu	37	chr12	122691380	122691380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacttcttcaacctgacGctcaaggagctgcacctgca	10	8	10	13	1	3	1	2	1	1	0	3	4	3	3	2	2	4	4	2	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:122691380G>A	ENST00000324189.4	+	3	938	c.582G>A	c.(580-582)acG>acA	p.T194T	B3GNT4_ENST00000535274.1_Silent_p.T169T|B3GNT4_ENST00000546192.1_Silent_p.T169T|B3GNT4_ENST00000545141.1_Intron	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	194					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		TCAACCTGACGCTCAAGGAGC	0.592																																																	0													43	46	45					12																	122691380		2203	4300	6503	SO:0001819	synonymous_variant	0			AB049586	CCDS9227.1	12q24	2013-02-19						"Beta 3-glycosyltransferases"	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.582G>A	12.37:g.122691380G>A			Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.T194	ENST00000324189.4	37	c.582	CCDS9227.1	12																																																																																			B3GNT4	-	pfam_Glyco_trans_31	ENSG00000176383		0.592	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	B3GNT4	HGNC	protein_coding	OTTHUMT00000401595.1	-	0	34	0	G	NM_030765		122691380	1	tier1	-	no_errors	ENST00000324189	ensembl	human	known	74_37	silent	52.00	24	26	SNP	0.018	A	A	122691380	G	A	122691380	2	1	52	1	0	0	0	0	0	0	0	1	1260	1074	38	1		1	B3GNT4	12	122691380	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1707113	122691380	11160515	562	12902											
KNTC1	9735	genome.wustl.edu	37	chr12	123036051	123036051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagtactcagatgtcttacgGaagctttaccagaaaacagg	14	10	9	8	1	2	2	1	0	1	2	2	3	2	3	1	2	5	2	1	2	7	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:123036051G>A	ENST00000333479.7	+	15	1354	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	KNTC1_ENST00000450485.2_Missense_Mutation_p.E356K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	393					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATGTCTTACGGAAGCTTTACC	0.284																																																	0													67	65	66					12																	123036051		1802	4056	5858	SO:0001583	missense	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1177G>A	12.37:g.123036051G>A	ENSP00000328236:p.Glu393Lys		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.E393K	ENST00000333479.7	37	c.1177	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841194	0.71488	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.33216	1.42;1.9	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.994;0.996	T	0.56709	-0.7934	10	0.72032	D	0.01	-25.1538	19.4917	0.95052	0.0:0.0:1.0:0.0	.	356;393	E7ES84;P50748	.;KNTC1_HUMAN	K	356;393	ENSP00000397992:E356K;ENSP00000328236:E393K	ENSP00000328236:E393K	E	+	1	0	KNTC1	121602004	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.995000	0.93534	2.608000	0.88229	0.478000	0.44815	GAA	KNTC1	-	NULL	ENSG00000184445		0.284	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0	41	0	G			123036051	1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	A	A	123036051	G	A	123036051	3	1	52	1	0	0	0	0	1	0	0	0	8455	1175	41	3	1231	3	KNTC1	12	123036051	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	344671	123036051	10815844	563	12903											
DNAH10	196385	genome.wustl.edu	37	chr12	124417966	124417966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcaggccacctgccGgaagaacggctggccactgg	7	5	16	13	2	0	1	0	0	0	1	0	2	0	2	4	6	3	3	4	6	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:124417966G>A	ENST00000409039.3	+	76	13056	c.13031G>A	c.(13030-13032)cGg>cAg	p.R4344Q	DNAH10OS_ENST00000514254.2_Intron|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10_ENST00000538983.1_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4344					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCACCTGCCGGAAGAACGGC	0.617																																																	0													33	35	35					12																	124417966		1976	4146	6122	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13031G>A	12.37:g.124417966G>A	ENSP00000386770:p.Arg4344Gln		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R4344Q	ENST00000409039.3	37	c.13031	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	36	5.867378	0.97043	.	.	ENSG00000197653	ENST00000409039	T	0.12361	2.69	5.18	5.18	0.71444	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66866	-0.5815	10	0.87932	D	0	.	18.3051	0.90177	0.0:0.0:1.0:0.0	.	4344	Q8IVF4	DYH10_HUMAN	Q	4344	ENSP00000386770:R4344Q	ENSP00000386770:R4344Q	R	+	2	0	DNAH10	122983919	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.623000	0.98386	2.413000	0.81919	0.561000	0.74099	CGG	DNAH10	-	pfam_Dynein_heavy_dom	ENSG00000197653		0.617	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	44	0	G			124417966	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	59.26	33	48	SNP	1.000	A	A	124417966	G	A	124417966	3	1	52	1	0	0	0	0	1	0	0	0	4612	1116	39	1	13333	1	DNAH10	12	124417966	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1381915	124417966	9433929	564	12904											
NCOR2	9612	genome.wustl.edu	37	chr12	124862853	124862853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctcctcatcctccacCacgggcgggaatgcagcctc	7	8	8	18	2	2	0	1	0	1	0	7	1	5	1	6	2	2	1	6	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:124862853C>T	ENST00000405201.1	-	18	2097	c.2097G>A	c.(2095-2097)gtG>gtA	p.V699V	NCOR2_ENST00000397355.1_Silent_p.V699V|NCOR2_ENST00000404621.1_Silent_p.V698V|NCOR2_ENST00000429285.2_Silent_p.V698V|NCOR2_ENST00000356219.3_Silent_p.V699V|NCOR2_ENST00000404121.2_Silent_p.V269V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	699					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CATCCTCCACCACGGGCGGGA	0.662																																																	0													65	78	74					12																	124862853		2087	4204	6291	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2097G>A	12.37:g.124862853C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.V699	ENST00000405201.1	37	c.2097	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	44	0	C	NM_006312		124862853	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	14.29	72	12	SNP	0.615	T	T	124862853	C	T	124862853	2	4	52	1	0	0	0	0	0	0	0	1	10275	581	21	3		3	NCOR2	12	124862853	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	444887	124862853	8989042	565	12905											
SCARB1	949	genome.wustl.edu	37	chr12	125292390	125292390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgggtagatggacccgttgGcaaacagggttttgggagcc	8	9	17	7	1	0	1	0	0	0	1	0	3	0	3	2	5	2	4	2	5	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:125292390G>T	ENST00000415380.2	-	7	1051	c.926C>A	c.(925-927)gCc>gAc	p.A309D	SCARB1_ENST00000261693.6_Missense_Mutation_p.A309D|SCARB1_ENST00000540495.1_Missense_Mutation_p.A272D|SCARB1_ENST00000376788.1_Missense_Mutation_p.A209D|SCARB1_ENST00000546215.1_Missense_Mutation_p.A309D|SCARB1_ENST00000541205.1_Missense_Mutation_p.A268D|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Missense_Mutation_p.A255D|SCARB1_ENST00000339570.5_Missense_Mutation_p.A309D			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	309					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GGACCCGTTGGCAAACAGGGT	0.567																																																	0													119	99	106					12																	125292390		2203	4300	6503	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.926C>A	12.37:g.125292390G>T	ENSP00000414979:p.Ala309Asp		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.A309D	ENST00000415380.2	37	c.926		12	.	.	.	.	.	.	.	.	.	.	G	31	5.069082	0.93950	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.57	5.57	0.84162	.	0.102508	0.64402	D	0.000003	T	0.80949	0.4722	M	0.62154	1.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;0.997;1.0	D;D;D;D;D;D	0.97110	1.0;0.978;1.0;1.0;0.955;1.0	T	0.80236	-0.1466	10	0.49607	T	0.09	-55.8852	19.5555	0.95345	0.0:0.0:1.0:0.0	.	268;309;309;309;309;309	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	D	309;309;309;209;309;268;255;272	ENSP00000343795:A309D;ENSP00000414979:A309D;ENSP00000261693:A309D;ENSP00000365984:A209D;ENSP00000442862:A309D;ENSP00000446107:A268D;ENSP00000444851:A255D;ENSP00000443286:A272D	ENSP00000261693:A309D	A	-	2	0	SCARB1	123858343	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.940000	0.92958	2.619000	0.88677	0.491000	0.48974	GCC	SCARB1	-	pfam_CD36	ENSG00000073060		0.567	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1		0	34	0	G	NM_005505		125292390	-1			no_errors	ENST00000415380	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	125292390	G	T	125292390	3	4	52	1	0	0	0	0	1	0	0	0	13926	1203	42	3	751	3	SCARB1	12	125292390	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	429537	125292390	8559505	566	12906											
TMEM132B	114795	genome.wustl.edu	37	chr12	126138243	126138243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctgtccaggcaaaccttGagtccaaatggccaattgtg	10	11	10	10	0	1	1	0	1	1	0	3	1	3	1	4	2	1	1	4	2	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:126138243G>A	ENST00000299308.3	+	9	2232	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E254K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	742						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCAAACCTTGAGTCCAAATG	0.428																																																	0													140	136	137					12																	126138243		1934	4136	6070	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2224G>A	12.37:g.126138243G>A	ENSP00000299308:p.Glu742Lys		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.E742K	ENST00000299308.3	37	c.2224	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	3.907	-0.020922	0.07634	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.14391	2.51;2.51	5.81	4.92	0.64577	.	0.186025	0.38381	N	0.001708	T	0.06280	0.0162	N	0.02539	-0.55	0.29759	N	0.835674	B	0.19200	0.034	B	0.21708	0.036	T	0.18999	-1.0319	10	0.12430	T	0.62	.	15.5855	0.76479	0.0:0.6763:0.3237:0.0	.	742	Q14DG7	T132B_HUMAN	K	742;254	ENSP00000299308:E742K;ENSP00000440436:E254K	ENSP00000299308:E742K	E	+	1	0	TMEM132B	124704196	0.984000	0.35163	0.996000	0.52242	0.848000	0.48234	2.245000	0.43133	1.428000	0.47296	0.655000	0.94253	GAG	TMEM132B	-	NULL	ENSG00000139364		0.428	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0	69	0	G	NM_052907		126138243	1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	30.30	46	20	SNP	0.992	A	A	126138243	G	A	126138243	3	1	52	1	0	0	0	0	1	0	0	0	16093	1291	45	3	2258	3	TMEM132B	12	126138243	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	845853	126138243	7713652	567	12907											
RIMBP2	23504	genome.wustl.edu	37	chr12	130898732	130898732	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgggtttggggacaTggtgagcgggtcgtagtcaa	8	10	17	6	2	2	1	1	1	1	0	3	2	2	2	0	5	2	3	0	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr12:130898732T>C	ENST00000261655.4	-	14	2753	c.2590A>G	c.(2590-2592)Atg>Gtg	p.M864V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	864	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TTTGGGGACATGGTGAGCGGG	0.577																																																	0													88	91	90					12																	130898732		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2590A>G	12.37:g.130898732T>C	ENSP00000261655:p.Met864Val		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.M864V	ENST00000261655.4	37	c.2590	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453997	0.63290	.	.	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.59906	3.24;0.23	4.37	4.37	0.52481	Src homology-3 domain (3);Variant SH3 (1);	0.101189	0.64402	D	0.000003	T	0.59972	0.2233	M	0.81802	2.56	0.80722	D	1	B	0.26902	0.163	B	0.30943	0.122	T	0.58792	-0.7574	10	0.22109	T	0.4	-28.4319	13.8741	0.63643	0.0:0.0:0.0:1.0	.	864	O15034	RIMB2_HUMAN	V	864;1	ENSP00000261655:M864V;ENSP00000439030:M1V	ENSP00000261655:M864V	M	-	1	0	RIMBP2	129464685	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.916000	0.87491	1.720000	0.51447	0.528000	0.53228	ATG	RIMBP2	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.577	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	37	0	T	NM_015347		130898732	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	C	C	130898732	T	C	130898732	3	2	52	1	0	0	0	0	1	0	0	0	13408	1464	51	4	592	4	RIMBP2	12	130898732	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	4760489	130898732	2953163	568	12908											
SPATA13	221178	genome.wustl.edu	37	chr13	24798196	24798196	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacagcaggcggggcGgggcggtcatgcatgggacc	8	3	20	10	3	1	0	1	0	0	0	1	2	1	2	1	8	3	3	1	8	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:24798196G>A	ENST00000382095.4	+	2	185				RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.G377R|SPATA13_ENST00000382108.3_Missense_Mutation_p.G377R|SPATA13_ENST00000424834.2_Missense_Mutation_p.G377R	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CAGGCGGGGCGGGGCGGTCAT	0.667																																																	0													18	21	20					13																	24798196		692	1591	2283	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25419G>A	13.37:g.24798196G>A			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G377R	ENST00000382095.4	37	c.1129	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.30|12.30	1.896107|1.896107	0.33442|0.33442	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	T|.	0.73152|.	-0.72|.	4.3|4.3	-0.173|-0.173	0.13322|0.13322	.|.	1.357460|.	0.06319|.	U|.	0.704060|.	T|T	0.20170|0.20170	0.0485|0.0485	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.26326|0.26326	-1.0106|-1.0106	8|5	0.28530|.	T|.	0.3|.	.|.	4.4656|4.4656	0.11687|0.11687	0.3902:0.1716:0.4381:0.0|0.3902:0.1716:0.4381:0.0	.|.	.|.	.|.	.|.	R|Q	377|414	ENSP00000371542:G377R|.	ENSP00000371542:G377R|.	G|R	+|+	1|2	0|0	SPATA13|SPATA13	23696196|23696196	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.168000|0.168000	0.16622|0.16622	0.298000|0.298000	0.22638|0.22638	-0.361000|-0.361000	0.07541|0.07541	GGG|CGG	SPATA13	-	NULL	ENSG00000182957		0.667	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0	31	0	G	NM_153023		24798196	1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.000	A	A	24798196	G	A	24798196	1	1	52	0	1	0	0	0	0	0	0	0	15047	1116	39	1		1	SPATA13	13	24798196	Intron	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		24798196	90371682	569	12909											
CDK8	1024	genome.wustl.edu	37	chr13	26978124	26978124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctgcctatcccaaccCtggaccaagcacatcacagc	12	6	6	17	0	1	0	1	0	0	0	2	1	2	1	4	1	5	2	4	1	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:26978124C>A	ENST00000381527.3	+	13	1804	c.1301C>A	c.(1300-1302)cCt>cAt	p.P434H	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	434					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TATCCCAACCCTGGACCAAGC	0.527																																																	0													294	246	263					13																	26978124		2203	4300	6503	SO:0001583	missense	0			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"Cyclin-dependent kinases"	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1301C>A	13.37:g.26978124C>A	ENSP00000370938:p.Pro434His		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P434H	ENST00000381527.3	37	c.1301	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882408	0.72294	.	.	ENSG00000132964	ENST00000381527	T	0.68331	-0.32	5.54	5.54	0.83059	.	0.045969	0.85682	D	0.000000	T	0.55273	0.1910	N	0.08118	0	0.80722	D	1	P;P	0.52316	0.925;0.952	P;P	0.45610	0.487;0.472	T	0.64931	-0.6291	10	0.62326	D	0.03	-4.3342	19.4585	0.94906	0.0:1.0:0.0:0.0	.	433;434	P49336-2;P49336	.;CDK8_HUMAN	H	434	ENSP00000370938:P434H	ENSP00000370938:P434H	P	+	2	0	CDK8	25876124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.172000	0.77604	2.605000	0.88082	0.591000	0.81541	CCT	CDK8	-	NULL	ENSG00000132964		0.527	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	-	0	27	0	C			26978124	1	tier1	-	no_errors	ENST00000381527	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	A	A	26978124	C	A	26978124	3	1	52	1	0	0	0	0	1	0	0	0	3157	681	24	3	1351	3	CDK8	13	26978124	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2179928	26978124	88191754	570	12910											
WASF3	10810	genome.wustl.edu	37	chr13	27256953	27256953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagccccgccaccccCgggcccaccacctcccccgc	5	2	8	26	3	1	0	1	0	0	0	2	0	2	0	10	2	1	0	10	2	0	0	rs373519573	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:27256953C>T	ENST00000335327.5	+	9	1371	c.1193C>T	c.(1192-1194)cCg>cTg	p.P398L	WASF3_ENST00000361042.4_Missense_Mutation_p.P395L	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	398	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCGCCACCCCCGGGCCCACCA	0.701													C|||	3	0.000599042	0	0.0014	5008	,	,		8518	0.001		0	False		,,,				2504	0.001																0								C	LEU/PRO	0,4406		0,0,2203	22	29	26		1193	4.8	0.3	13		26	1,8593		0,1,4296	no	missense	WASF3	NM_006646.5	98	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	398/503	27256953	1,12999	2203	4297	6500	SO:0001583	missense	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1193C>T	13.37:g.27256953C>T	ENSP00000335055:p.Pro398Leu		O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.P398L	ENST00000335327.5	37	c.1193	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	C	15.22	2.770086	0.49680	0.0	1.16E-4	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.62364	0.03;0.03	5.7	4.84	0.62591	.	0.199989	0.53938	D	0.000045	T	0.78898	0.4356	M	0.76002	2.32	0.80722	D	1	D;B	0.89917	1.0;0.269	D;B	0.87578	0.998;0.066	T	0.81274	-0.1007	10	0.59425	D	0.04	-15.9896	15.9152	0.79508	0.1365:0.8635:0.0:0.0	.	395;398	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	L	395;398	ENSP00000354325:P395L;ENSP00000335055:P398L	ENSP00000335055:P398L	P	+	2	0	WASF3	26154953	1.000000	0.71417	0.263000	0.24496	0.010000	0.07245	7.048000	0.76606	1.363000	0.46019	0.561000	0.74099	CCG	WASF3	-	NULL	ENSG00000132970		0.701	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0	12	0	C			27256953	1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.991	T	T	27256953	C	T	27256953	3	4	52	1	0	0	0	0	1	0	0	0	17303	652	23	1	1219	1	WASF3	13	27256953	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	278829	27256953	87912925	571	12911											
PDX1	3651	genome.wustl.edu	37	chr13	28498619	28498619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacaagaagcgcggcggCgggacagctgtcgggggtgg	8	3	22	8	5	0	1	0	0	0	1	1	4	0	3	0	7	2	1	0	7	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:28498619C>T	ENST00000381033.4	+	2	752	c.633C>T	c.(631-633)ggC>ggT	p.G211G		NM_000209.3	NP_000200.1	O00330	ODPX_HUMAN	pancreatic and duodenal homeobox 1	81	Interaction with DLD.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		AGCGCGGCGGCGGGACAGCTG	0.662																																																	0													26	28	27					13																	28498619		2202	4300	6502	SO:0001819	synonymous_variant	0			AF035260	CCDS9327.1	13q12.1	2012-03-09	2006-12-01	2006-12-01	ENSG00000139515	ENSG00000139515		"Homeoboxes / ANTP class : HOXL subclass"	6107	protein-coding gene	gene with protein product	"somatostatin transcription factor 1"	600733	"insulin promoter factor 1, homeodomain transcription factor"	IPF1		7590740	Standard	NM_000209		Approved	IDX-1, STF-1, PDX-1, MODY4	uc001urt.2	P52945	OTTHUMG00000016638	ENST00000381033.4:c.633C>T	13.37:g.28498619C>T			B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.G211	ENST00000381033.4	37	c.633	CCDS9327.1	13																																																																																			PDX1	-	NULL	ENSG00000139515		0.662	PDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDX1	HGNC	protein_coding	OTTHUMT00000044310.2		0	12	0	C	NM_000209		28498619	1			no_errors	ENST00000381033	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.994	T	T	28498619	C	T	28498619	2	4	52	1	0	0	0	0	0	0	0	1	11734	755	27	1		1	PDX1	13	28498619	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1241666	28498619	86671259	572	12912											
FLT3	2322	genome.wustl.edu	37	chr13	28636205	28636205	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttccggggattctgatAcctacgttgcagatagaaca	10	11	11	9	2	2	3	0	1	2	2	3	4	3	4	2	3	4	2	2	3	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:28636205A>G	ENST00000241453.7	-	3	248	c.167T>C	c.(166-168)gTa>gCa	p.V56A	FLT3_ENST00000380982.4_Splice_Site_p.V56A|FLT3_ENST00000537084.1_Splice_Site_p.V56A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	56					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGATTCTGATACCTACGTTGC	0.488			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													68	72	71					13																	28636205		2203	4300	6503	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.166-1T>C	13.37:g.28636205A>G			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V56A	ENST00000241453.7	37	c.167	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	A	10.10	1.257649	0.22965	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78364	-1.1;-1.17;-0.91	5.78	-0.962	0.10333	.	0.658635	0.14535	N	0.313607	T	0.54515	0.1863	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.32771	-0.9894	10	0.27785	T	0.31	.	3.935	0.09302	0.514:0.0:0.2184:0.2676	.	56;56	P36888-2;P36888	.;FLT3_HUMAN	A	56	ENSP00000241453:V56A;ENSP00000370369:V56A;ENSP00000438139:V56A	ENSP00000241453:V56A	V	-	2	0	FLT3	27534205	0.294000	0.24380	0.018000	0.16275	0.005000	0.04900	0.701000	0.25616	-0.056000	0.13221	-0.503000	0.04515	GTA	FLT3	-	NULL	ENSG00000122025		0.488	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2		0	13	0	A		Missense_Mutation	28636205	-1			no_errors	ENST00000380982	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.014	G	G	28636205	A	G	28636205	5	3	52	1	0	0	0	0	0	0	1	0	5964	405	14	4	2902	4	FLT3	13	28636205	Splice_Site	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	137586	28636205	86533673	573	12913											
POMP	51371	genome.wustl.edu	37	chr13	29238658	29238658	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagtttttcttgtgtGaaaaatgaacttttgcctag	9	18	7	7	0	2	2	1	2	1	0	2	2	2	2	2	0	2	1	2	0	4	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:29238658G>T	ENST00000380842.4	+	3	195	c.114G>T	c.(112-114)gtG>gtT	p.V38V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	38					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TTTCTTGTGTGAAAAATGAAC	0.274																																																	0													30	34	32					13																	29238658		2195	4291	6486	SO:0001819	synonymous_variant	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"proteassemblin"	613386	"chromosome 13 open reading frame 12"	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.114G>T	13.37:g.29238658G>T			A5HKJ2|D6MXU3|Q9HB69	Silent	SNP	pfam_UMP1	p.V38	ENST00000380842.4	37	c.114	CCDS9331.1	13																																																																																			POMP	-	pfam_UMP1	ENSG00000132963		0.274	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1	-	0	31	0	G	NM_015932		29238658	1	tier1	-	no_errors	ENST00000380842	ensembl	human	known	74_37	silent	42.22	26	19	SNP	1.000	T	T	29238658	G	T	29238658	2	4	52	1	0	0	0	0	0	0	0	1	12283	1277	45	3		3	POMP	13	29238658	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	602453	29238658	85931220	574	12914											
KATNAL1	84056	genome.wustl.edu	37	chr13	30829644	30829644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagaaggcttttcactCtttgatataggatgtgctcg	8	16	10	7	1	2	2	1	1	1	1	3	3	2	3	0	2	1	3	0	2	4	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:30829644C>A	ENST00000380615.3	-	4	599	c.432G>T	c.(430-432)aaG>aaT	p.K144N	KATNAL1_ENST00000380617.3_Missense_Mutation_p.K144N	NM_032116.4	NP_115492.1			katanin p60 subunit A-like 1											autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCTTTTCACTCTTTGATATAG	0.493																																																	0													333	327	329					13																	30829644		2203	4300	6503	SO:0001583	missense	0			AK097423	CCDS31956.1	13q12.3	2010-04-21			ENSG00000102781	ENSG00000102781		"ATPases / AAA-type"	28361	protein-coding gene	gene with protein product		614764				12477932	Standard	NM_001014380		Approved	MGC2599	uc001uss.4	Q9BW62	OTTHUMG00000016665	ENST00000380615.3:c.432G>T	13.37:g.30829644C>A	ENSP00000369989:p.Lys144Asn			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K144N	ENST00000380615.3	37	c.432	CCDS31956.1	13	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786243	0.49997	.	.	ENSG00000102781	ENST00000380615;ENST00000380617;ENST00000414289;ENST00000441394	D;D	0.94280	-3.39;-3.39	5.8	5.8	0.92144	.	0.510335	0.24499	N	0.037989	D	0.86636	0.5980	N	0.24115	0.695	0.44825	D	0.997839	B	0.02656	0.0	B	0.04013	0.001	T	0.80313	-0.1435	10	0.22109	T	0.4	0.0052	10.4491	0.44511	0.0:0.8559:0.0:0.1441	.	144	Q9BW62	KATL1_HUMAN	N	144	ENSP00000369989:K144N;ENSP00000369991:K144N	ENSP00000369989:K144N	K	-	3	2	KATNAL1	29727644	1.000000	0.71417	0.914000	0.36105	0.924000	0.55760	1.391000	0.34475	2.741000	0.93983	0.650000	0.86243	AAG	KATNAL1	-	NULL	ENSG00000102781		0.493	KATNAL1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KATNAL1	HGNC	protein_coding	OTTHUMT00000044346.2	-	0	65	0	C	NM_032116		30829644	-1	tier1	-	no_errors	ENST00000380615	ensembl	human	known	74_37	missense	47.44	41	37	SNP	0.998	A	A	30829644	C	A	30829644	3	1	52	1	0	0	0	0	1	0	0	0	8012	912	32	3	1072	3	KATNAL1	13	30829644	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1590986	30829644	84340234	575	12915											
FRY	10129	genome.wustl.edu	37	chr13	32709319	32709319	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgaaagaagcattcctTggttagtaactatgagaaaa	15	12	8	6	1	1	2	0	1	1	2	3	4	2	2	1	1	2	3	1	1	7	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:32709319T>C	ENST00000380250.3	+	10	1572	c.1076T>C	c.(1075-1077)tTg>tCg	p.L359S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	359						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGCATTCCTTGGTTAGTAAC	0.393																																																	0													51	45	47					13																	32709319		1826	4082	5908	SO:0001630	splice_region_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1077+1T>C	13.37:g.32709319T>C			Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L359S	ENST00000380250.3	37	c.1076	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	T	27.2	4.808262	0.90707	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.24538	1.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.75085	2.285	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.55780	-0.8087	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	359	Q5TBA9	FRY_HUMAN	S	359;287	ENSP00000369600:L359S	ENSP00000267067:L287S	L	+	2	0	FRY	31607319	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.920000	0.87521	2.371000	0.80710	0.533000	0.62120	TTG	FRY	-	NULL	ENSG00000073910		0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0	37	0	T	NM_023037	Missense_Mutation	32709319	1	tier1	-	no_errors	ENST00000380250	ensembl	human	known	74_37	missense	52.94	16	18	SNP	1.000	C	C	32709319	T	C	32709319	5	2	52	1	0	0	0	0	0	0	1	0	6087	1826	63	4	1114	4	FRY	13	32709319	Splice_Site	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1879675	32709319	82460559	576	12916											
BRCA2	675	genome.wustl.edu	37	chr13	32913836	32913837	+	Frame_Shift_Ins	INS	-	-	A																															attgaagaatgttgaagatcINSaaaaaaacactagtttttcc																								rs80358757|rs80359508|rs80359509|rs80359507|rs80359506		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:32913836_32913837insA	ENST00000380152.3	+	11	5577_5578	c.5344_5345insA	c.(5344-5346)caafs	p.Q1782fs	BRCA2_ENST00000544455.1_Frame_Shift_Ins_p.Q1782fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1782					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N1784fs*7(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGAAGATCAAAAAAACACT	0.322			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CM067354	BRCA2	M	rs80358757																																			SO:0001589	frameshift_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.5351dupA	13.37:g.32913843_32913843dupA	ENSP00000369497:p.Gln1782fs		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Ins	INS	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.N1784fs	ENST00000380152.3	37	c.5344_5345	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.322	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2		0	33	0	-	NM_000059		32913837	1	tier1		no_errors	ENST00000380152	ensembl	human	known	74_37	frame_shift_ins	21.62	29	8	INS	0.000:0.000	A	A	32913837	-	A	32913836	7	5	52	1	0	1	1	0	0	0	0	0	1503	827	29	0	5382	0	BRCA2	13	32913836	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	204517	32913836	82256042	577	12917											
CCNA1	8900	genome.wustl.edu	37	chr13	37014167	37014167	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagtttgtctatatcacCgatgatacatacacaaaacg	15	10	7	9	3	2	1	1	1	1	0	2	4	2	1	1	0	3	1	1	0	6	5	rs150999500	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:37014167C>A	ENST00000255465.4	+	6	1209	c.945C>A	c.(943-945)acC>acA	p.T315T	CCNA1_ENST00000440264.1_Silent_p.T271T|CCNA1_ENST00000449823.1_Silent_p.T271T|CCNA1_ENST00000418263.1_Silent_p.T314T			P78396	CCNA1_HUMAN	cyclin A1	315					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.T315T(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTATATCACCGATGATACAT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											107	103	105					13																	37014167		2203	4300	6503	SO:0001819	synonymous_variant	0			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.945C>A	13.37:g.37014167C>A			B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.T315	ENST00000255465.4	37	c.945	CCDS9357.1	13																																																																																			CCNA1	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000133101		0.383	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	HGNC	protein_coding	OTTHUMT00000044514.2		0	41	0	C	NM_003914		37014167	1			no_errors	ENST00000255465	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.000	A	A	37014167	C	A	37014167	2	1	52	1	0	0	0	0	0	0	0	1	2916	639	23	2		2	CCNA1	13	37014167	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4100331	37014167	78155711	578	12918											
EXOSC8	11340	genome.wustl.edu	37	chr13	37580070	37580070	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagttcctaatgtggaTctaccacccctgtgttcatc	7	15	6	13	0	3	0	2	0	1	0	5	1	4	1	4	1	1	2	4	1	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:37580070T>A	ENST00000389704.3	+	6	517	c.252T>A	c.(250-252)gaT>gaA	p.D84E	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	84					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTAATGTGGATCTACCACCCC	0.438																																																	0													115	107	110					13																	37580070		2203	4300	6503	SO:0001583	missense	0			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"CBP-interacting protein 3", "Opa interacting protein 2"	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.252T>A	13.37:g.37580070T>A	ENSP00000374354:p.Asp84Glu		O43480|Q5TBA5	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.D84E	ENST00000389704.3	37	c.252	CCDS31958.1	13	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988609	0.35131	.	.	ENSG00000120699	ENST00000389704	T	0.60920	0.15	5.93	3.39	0.38822	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.081669	0.85682	D	0.000000	T	0.25044	0.0608	N	0.04508	-0.205	0.52099	D	0.999946	B	0.20261	0.043	B	0.21917	0.037	T	0.19582	-1.0301	10	0.02654	T	1	-13.8773	3.5142	0.07719	0.1089:0.1266:0.1131:0.6514	.	84	Q96B26	EXOS8_HUMAN	E	84	ENSP00000374354:D84E	ENSP00000374354:D84E	D	+	3	2	EXOSC8	36478070	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.658000	0.24979	0.453000	0.26858	0.533000	0.62120	GAT	EXOSC8	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000120699		0.438	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC8	HGNC	protein_coding	OTTHUMT00000044535.2	-	0	47	0	T	NM_181503		37580070	1	tier1	-	no_errors	ENST00000389704	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	A	A	37580070	T	A	37580070	3	1	52	1	0	0	0	0	1	0	0	0	5336	1432	50	5	274	5	EXOSC8	13	37580070	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	565903	37580070	77589808	579	12919											
NUFIP1	26747	genome.wustl.edu	37	chr13	45556208	45556208	+	Splice_Site	DEL	T	T	-																															aagaacatctttcaaataccTtttttttctgttttctactg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:45556208delT	ENST00000379161.4	-	2	540	c.494delA	c.(493-495)aag>ag	p.K166fs	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	166					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TTCAAATACCTTTTTTTTCTG	0.328																																																	0										19,4241		8,3,2119	94	93	93			5.1	1	13		94	29,8223		12,5,4109	no	frameshift-near-splice	NUFIP1	NM_012345.2		20,8,6228	A1A1,A1R,RR		0.3514,0.446,0.3836			45556208	48,12464	2201	4299	6500	SO:0001630	splice_region_variant	0			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.495+1A>-	13.37:g.45556208delT			Q8WVM5|Q96SG1	Frame_Shift_Del	DEL	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K165fs	ENST00000379161.4	37	c.494	CCDS9393.1	13																																																																																			NUFIP1	-	NULL	ENSG00000083635		0.328	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2		0	42	0	T	NM_012345	Frame_Shift_Del	45556208	-1	tier1		no_errors	ENST00000379161	ensembl	human	known	74_37	frame_shift_del	20.34	47	12	DEL	1.000	-	-	45556208	T	-	45556208	8	5	52	1	0	1	0	1	0	0	1	0	10787	1623	56	0	1029	0	NUFIP1	13	45556208	Splice_Site	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	7976138	45556208	69613670	580	12920											
UTP14C	9724	genome.wustl.edu	37	chr13	52604834	52604834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacactacctggctggggcGagtggggtggtgtgggccta	5	9	19	8	1	0	1	0	1	0	0	0	2	0	1	2	7	1	1	2	7	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:52604834G>A	ENST00000521776.2	+	2	2627	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	632					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGGCTGGGGCGAGTGGGGTGG	0.517																																																	0													71	83	79					13																	52604834		2203	4298	6501	SO:0001583	missense	0			D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"KIAA0266"	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.1894G>A	13.37:g.52604834G>A	ENSP00000428619:p.Glu632Lys		Q5FWG3|Q92555	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.E632K	ENST00000521776.2	37	c.1894	CCDS31978.1	13	.	.	.	.	.	.	.	.	.	.	G	12.69	2.014675	0.35511	.	.	ENSG00000253797	ENST00000521776	T	0.18016	2.24	2.9	1.06	0.20224	.	0.245363	0.46145	D	0.000301	T	0.18841	0.0452	M	0.80982	2.52	0.49915	D	0.999838	B	0.24533	0.105	B	0.24269	0.052	T	0.03231	-1.1058	9	.	.	.	-16.0497	6.7654	0.23564	0.2688:0.0:0.7312:0.0	.	632	Q5TAP6	UT14C_HUMAN	K	632	ENSP00000428619:E632K	.	E	+	1	0	UTP14C	51502835	0.998000	0.40836	0.989000	0.46669	0.606000	0.37113	3.127000	0.50484	0.549000	0.28973	0.455000	0.32223	GAG	UTP14C	-	pfam_SSU_processome_Utp14	ENSG00000253797		0.517	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP14C	HGNC	protein_coding	OTTHUMT00000045049.2	-	0	40	0	G	NM_021645		52604834	1	tier1	-	no_errors	ENST00000521776	ensembl	human	known	74_37	missense	40.00	36	24	SNP	0.982	A	A	52604834	G	A	52604834	3	1	52	1	0	0	0	0	1	0	0	0	17145	1059	37	1	1896	1	UTP14C	13	52604834	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	7048626	52604834	62565044	581	12921											
PCDH17	27253	genome.wustl.edu	37	chr13	58206843	58206843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcctgcagagcgcggcGgcggagggcgcagcaagtcg	6	4	18	13	7	0	1	0	0	0	1	2	2	1	2	2	4	3	3	2	4	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:58206843G>A	ENST00000377918.3	+	1	189	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAGCGCGGCGGCGGAGGGCG	0.682																																					Melanoma(72;952 1291 1619 12849 33676)												0													21	23	23					13																	58206843		2203	4299	6502	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.163G>A	13.37:g.58206843G>A	ENSP00000367151:p.Gly55Ser		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G55S	ENST00000377918.3	37	c.163	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	8.501	0.864358	0.17250	.	.	ENSG00000118946	ENST00000377918	T	0.48522	0.81	5.49	3.38	0.38709	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.879913	0.10367	N	0.683283	T	0.29914	0.0748	N	0.22421	0.69	0.25289	N	0.989378	B;P	0.42871	0.041;0.792	B;B	0.34418	0.041;0.182	T	0.04203	-1.0969	9	.	.	.	.	9.4252	0.38574	0.2022:0.0:0.7978:0.0	.	55;55	O14917-2;O14917	.;PCD17_HUMAN	S	55	ENSP00000367151:G55S	.	G	+	1	0	PCDH17	57104844	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	4.359000	0.59449	0.627000	0.30340	0.655000	0.94253	GGC	PCDH17	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	14	0	G	NM_001040429		58206843	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	75.00	2	6	SNP	0.986	A	A	58206843	G	A	58206843	3	1	52	1	0	0	0	0	1	0	0	0	11551	1116	39	1	165	1	PCDH17	13	58206843	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	5602009	58206843	56963035	582	12922											
TDRD3	81550	genome.wustl.edu	37	chr13	61109341	61109341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaggtgctactgagcaatAtcaagcccattcaaacagag	16	7	9	9	0	2	3	2	1	0	2	2	3	2	3	1	1	5	2	1	1	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:61109341A>G	ENST00000196169.3	+	12	2601	c.1813A>G	c.(1813-1815)Atc>Gtc	p.I605V	TDRD3_ENST00000377894.2_Missense_Mutation_p.I605V|TDRD3_ENST00000377881.2_Missense_Mutation_p.I605V|TDRD3_ENST00000535286.1_Missense_Mutation_p.I698V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	605	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTGAGCAATATCAAGCCCAT	0.388																																					Colon(36;164 906 35820 50723)												0													106	97	100					13																	61109341		2203	4300	6503	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1813A>G	13.37:g.61109341A>G	ENSP00000196169:p.Ile605Val		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.I698V	ENST00000196169.3	37	c.2092	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	A	19.76	3.888377	0.72524	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	6.07	6.07	0.98685	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.093921	0.64402	D	0.000001	T	0.18215	0.0437	L	0.43923	1.385	0.58432	D	0.999993	P;P;P	0.43231	0.798;0.587;0.801	B;B;P	0.48770	0.439;0.151;0.589	T	0.00204	-1.1923	10	0.62326	D	0.03	-9.4882	15.2061	0.73180	1.0:0.0:0.0:0.0	.	698;604;605	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	V	605;605;605;698	ENSP00000196169:I605V;ENSP00000367113:I605V;ENSP00000367126:I605V;ENSP00000440190:I698V	ENSP00000196169:I605V	I	+	1	0	TDRD3	60007342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.104000	0.64584	2.330000	0.79161	0.477000	0.44152	ATC	TDRD3	-	pfam_Tudor,pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	ENSG00000083544		0.388	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	-	0	41	0	A	NM_030794		61109341	1	tier1	-	no_errors	ENST00000535286	ensembl	human	known	74_37	missense	47.54	32	29	SNP	1.000	G	G	61109341	A	G	61109341	3	3	52	1	0	0	0	0	1	0	0	0	15779	449	16	4	2138	4	TDRD3	13	61109341	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2902498	61109341	54060537	583	12923											
PCDH20	64881	genome.wustl.edu	37	chr13	61986976	61986976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagggggtctgaaaataActttaataatggacacaaga	16	11	9	5	0	2	2	1	1	1	1	2	3	2	3	0	3	1	0	0	3	6	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:61986976A>G	ENST00000409186.1	-	5	3361	c.1256T>C	c.(1255-1257)gTt>gCt	p.V419A	PCDH20_ENST00000409204.4_Missense_Mutation_p.V419A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	419	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTGAAAATAACTTTAATAAT	0.458																																																	0													100	103	102					13																	61986976		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1256T>C	13.37:g.61986976A>G	ENSP00000386653:p.Val419Ala		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V419A	ENST00000409186.1	37	c.1256	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	A	6.543	0.468522	0.12461	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.57752	0.38;0.38	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000029	T	0.58250	0.2109	M	0.84326	2.69	0.44611	D	0.997587	B	0.29716	0.255	B	0.27262	0.078	T	0.59627	-0.7419	10	0.44086	T	0.13	.	16.2937	0.82761	1.0:0.0:0.0:0.0	.	419	A8K1K9	.	A	419;419;165	ENSP00000387250:V419A;ENSP00000386653:V419A	ENSP00000351500:V165A	V	-	2	0	PCDH20	60884977	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	7.289000	0.78701	2.258000	0.74832	0.519000	0.50382	GTT	PCDH20	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.458	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0	25	0	A	NM_022843		61986976	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.996	G	G	61986976	A	G	61986976	3	3	52	1	0	0	0	0	1	0	0	0	11554	43	2	4	1603	4	PCDH20	13	61986976	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	877635	61986976	53182902	584	12924											
PIBF1	10464	genome.wustl.edu	37	chr13	73505320	73505320	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagtgttcacttggcaagaaGagtgcttcaattagaaaaac	15	11	9	6	0	2	3	2	0	0	3	2	3	2	3	0	1	2	3	0	1	7	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:73505320G>C	ENST00000326291.6	+	14	2086	c.1748G>C	c.(1747-1749)aGa>aCa	p.R583T		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	583						centrosome (GO:0005813)				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTGGCAAGAAGAGTGCTTCAA	0.318																																																	0													47	47	47					13																	73505320		2203	4299	6502	SO:0001583	missense	0			AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"progesterone-induced blocking factor 1"	607532	"chromosome 13 open reading frame 24"	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.1748G>C	13.37:g.73505320G>C	ENSP00000317144:p.Arg583Thr		O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	superfamily_t-SNARE	p.R583T	ENST00000326291.6	37	c.1748	CCDS31991.1	13	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908464	0.72868	.	.	ENSG00000083535	ENST00000326291;ENST00000326314	T	0.44083	0.93	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.67145	0.996;0.996	D;D	0.77557	0.99;0.99	T	0.64626	-0.6363	10	0.54805	T	0.06	-12.9086	18.2762	0.90084	0.0:0.0:1.0:0.0	.	583;583	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	T	583;42	ENSP00000317144:R583T	ENSP00000317144:R583T	R	+	2	0	PIBF1	72403321	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.312000	0.72840	2.833000	0.97629	0.655000	0.94253	AGA	PIBF1	-	NULL	ENSG00000083535		0.318	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIBF1	HGNC	protein_coding	OTTHUMT00000045255.1	-	0	18	0	G	NM_006346		73505320	1	tier1	-	no_errors	ENST00000326291	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	C	C	73505320	G	C	73505320	3	2	52	1	0	0	0	0	1	0	0	0	11918	942	33	5	1798	5	PIBF1	13	73505320	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	11518344	73505320	41664558	585	12925											
LMO7	4008	genome.wustl.edu	37	chr13	76374862	76374862	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagaagtggcagggacAgtggctacggtgacatctgg	12	7	16	6	1	1	3	0	2	1	1	1	4	1	4	0	5	1	2	0	5	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:76374862A>C	ENST00000341547.4	+	8	1921	c.661A>C	c.(661-663)Agt>Cgt	p.S221R	LMO7_ENST00000526202.1_Missense_Mutation_p.S130R|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.S221R|LMO7_ENST00000357063.3_Missense_Mutation_p.S221R|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	221					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGCAGGGACAGTGGCTACGG	0.413																																																	0													71	72	72					13																	76374862		2203	4300	6503	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.661A>C	13.37:g.76374862A>C	ENSP00000342112:p.Ser221Arg		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S221R	ENST00000341547.4	37	c.661	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558737	0.86231	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.57595	0.97;0.99;1.0;0.46;0.39	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	L	0.51914	1.62	0.52099	D	0.999942	P;P;D	0.89917	0.85;0.918;1.0	P;P;D	0.87578	0.85;0.712;0.998	T	0.70865	-0.4756	10	0.87932	D	0	-19.9954	16.1726	0.81828	1.0:0.0:0.0:0.0	.	130;221;169	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	R	221;221;221;169;130	ENSP00000342112:S221R;ENSP00000349571:S221R;ENSP00000366757:S221R;ENSP00000366719:S169R;ENSP00000431129:S130R	ENSP00000342112:S221R	S	+	1	0	LMO7	75272863	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.468000	0.73551	2.232000	0.73038	0.482000	0.46254	AGT	LMO7	-	NULL	ENSG00000136153		0.413	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	-	0	62	0	A	NM_005358		76374862	1	tier1	-	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	C	C	76374862	A	C	76374862	3	2	52	1	0	0	0	0	1	0	0	0	8885	188	7	4	691	4	LMO7	13	76374862	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2869542	76374862	38795016	586	12926											
IPO5	3843	genome.wustl.edu	37	chr13	98655251	98655251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatacttggataatttggTgaaacatctgcattccatta	12	15	6	8	0	1	1	0	1	1	0	3	2	3	2	2	2	3	1	2	2	4	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:98655251T>C	ENST00000490680.1	+	13	1522	c.1457T>C	c.(1456-1458)gTg>gCg	p.V486A	IPO5_ENST00000261574.5_Missense_Mutation_p.V504A|IPO5_ENST00000539640.1_Missense_Mutation_p.V361A			O00410	IPO5_HUMAN	importin 5	486					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATAATTTGGTGAAACATCTG	0.408																																																	0													163	158	160					13																	98655251		2203	4300	6503	SO:0001583	missense	0			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1457T>C	13.37:g.98655251T>C	ENSP00000418393:p.Val486Ala		B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.V504A	ENST00000490680.1	37	c.1511		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.02|17.02	3.281049|3.281049	0.59758|0.59758	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.72051|.	-0.62;-0.62;-0.62;-0.62|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.057004|.	0.64402|.	D|.	0.000001|.	T|.	0.62877|.	0.2464|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;B|.	0.06786|.	0.001;0.0;0.001|.	B;B;B|.	0.10450|.	0.003;0.002;0.005|.	T|.	0.59994|.	-0.7349|.	10|.	0.49607|.	T|.	0.09|.	-12.7159|-12.7159	15.7846|15.7846	0.78291|0.78291	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	361;486;504|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	A|R	504;486;486;361|488	ENSP00000261574:V504A;ENSP00000350219:V486A;ENSP00000418393:V486A;ENSP00000445126:V361A|.	ENSP00000261574:V504A|.	V|X	+|+	2|1	0|0	IPO5|IPO5	97453252|97453252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.972000|7.972000	0.88022|0.88022	2.123000|2.123000	0.65237|0.65237	0.460000|0.460000	0.39030|0.39030	GTG|TGA	IPO5	-	superfamily_ARM-type_fold	ENSG00000065150		0.408	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	-	0	22	0	T	NM_002271		98655251	1	tier1	-	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	C	C	98655251	T	C	98655251	3	2	52	1	0	0	0	0	1	0	0	0	7823	1696	59	4	1565	4	IPO5	13	98655251	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	22280389	98655251	16514627	587	12927											
KDELC1	79070	genome.wustl.edu	37	chr13	103443722	103443722	+	Frame_Shift_Del	DEL	T	T	-																															ggatgtttgaattggatttcTttttttccaaaggccagtct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr13:103443722delT	ENST00000376004.4	-	5	1067	c.731delA	c.(730-732)aagfs	p.K245fs	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	245						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418																																																	0													203	218	213					13																	103443722		2203	4300	6503	SO:0001589	frameshift_variant	0			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.731delA	13.37:g.103443722delT	ENSP00000365172:p.Lys245fs		Q53HL3|Q9BVD2	Frame_Shift_Del	DEL	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.K244fs	ENST00000376004.4	37	c.731	CCDS9504.1	13																																																																																			KDELC1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000134901		0.418	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1		0	65	0	T			103443722	-1	tier1		no_errors	ENST00000376004	ensembl	human	known	74_37	frame_shift_del	53.03	31	35	DEL	1.000	-	-	103443722	T	-	103443722	7	5	52	1	0	1	0	1	0	0	0	0	8144	1609	56	0	801	0	KDELC1	13	103443722	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	4788471	103443722	11726156	588	12928											
POTEM	641455	genome.wustl.edu	37	chr14	20002279	20002279	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactcttcctctgatgtCagctttaagtcttgttctgt	5	19	8	9	0	5	2	1	2	4	0	6	2	6	2	1	0	1	2	1	0	1	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:20002279C>A	ENST00000551509.1	-	7	1194	c.1143G>T	c.(1141-1143)ctG>ctT	p.L381L		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	381										endometrium(4)|kidney(1)|lung(4)	9						CCTCTGATGTCAGCTTTAAGT	0.313																																																	0																																										SO:0001819	synonymous_variant	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	37096	protein-coding gene	gene with protein product	"prostate-specific P704P"					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.1143G>T	14.37:g.20002279C>A				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L381	ENST00000551509.1	37	c.1143	CCDS45076.1	14																																																																																			POTEM	-	NULL	ENSG00000187537		0.313	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	-	0	80	0	C	NM_001145442		20002279	-1	tier1	-	no_errors	ENST00000547848	ensembl	human	known	74_37	silent	21.28	148	40	SNP	0.041	A	A	20002279	C	A	20002279	2	1	52	1	0	0	0	0	0	0	0	1	12307	813	29	3		3	POTEM	14	20002279	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		20002279	87347261	589	12929											
TEP1	7011	genome.wustl.edu	37	chr14	20845785	20845785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agattttgtagatcctaatgCcatccgctcgatatccaaca	12	12	6	11	2	0	2	0	0	0	2	4	3	3	2	4	0	2	2	4	0	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:20845785C>A	ENST00000262715.5	-	40	5889	c.5849G>T	c.(5848-5850)gGc>gTc	p.G1950V	TEP1_ENST00000556935.1_Missense_Mutation_p.G1842V|TEP1_ENST00000545983.1_Missense_Mutation_p.G288V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1950					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G1950D(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GATCCTAATGCCATCCGCTCG	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											128	137	134					14																	20845785		2203	4300	6503	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5849G>T	14.37:g.20845785C>A	ENSP00000262715:p.Gly1950Val		A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1950V	ENST00000262715.5	37	c.5849	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756272	0.49362	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.80393	0.79;-0.41;-1.37	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);	0.119040	0.56097	D	0.000024	T	0.81413	0.4817	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;1.0;1.0	P;D;D;D	0.97110	0.779;0.995;1.0;0.988	T	0.77099	-0.2713	10	0.21540	T	0.41	-19.5671	10.0999	0.42497	0.0:0.9086:0.0:0.0914	.	288;1842;1293;1950	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	V	1950;1950;1842;288	ENSP00000262715:G1950V;ENSP00000452574:G1842V;ENSP00000438849:G288V	ENSP00000262715:G1950V	G	-	2	0	TEP1	19915625	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.569000	0.45973	2.502000	0.84385	0.563000	0.77884	GGC	TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000129566		0.567	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0	24	0	C	NM_007110		20845785	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	A	A	20845785	C	A	20845785	3	1	52	1	0	0	0	0	1	0	0	0	15806	739	26	3	2098	3	TEP1	14	20845785	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	843506	20845785	86503755	590	12930											
TMEM55B	90809	genome.wustl.edu	37	chr14	20926824	20926824	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgcccaggctgcatagAtgcctccatatcgccgtgca	10	8	9	14	2	0	1	0	0	0	1	2	1	1	1	4	1	4	3	4	1	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:20926824A>C	ENST00000250489.4	-	7	1014	c.728T>G	c.(727-729)aTc>aGc	p.I243S	TMEM55B_ENST00000398020.4_Missense_Mutation_p.I250S|TMEM55B_ENST00000554028.1_Missense_Mutation_p.I76S			Q86T03	TM55B_HUMAN	transmembrane protein 55B	243						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		GGCTGCATAGATGCCTCCATA	0.512																																																	0													92	78	83					14																	20926824		2203	4300	6503	SO:0001583	missense	0			BC002867	CCDS9551.1, CCDS41911.1	14q11.1	2002-11-27	2005-07-18	2005-07-18	ENSG00000165782	ENSG00000165782			19299	protein-coding gene	gene with protein product		609865	"chromosome 14 open reading frame 9"	C14orf9			Standard	NM_144568		Approved	MGC26684	uc001vxk.2	Q86T03	OTTHUMG00000029545	ENST00000250489.4:c.728T>G	14.37:g.20926824A>C	ENSP00000250489:p.Ile243Ser		B2RA35|Q86U09|Q8WUC0|Q9BU67|Q9NSU8	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.I250S	ENST00000250489.4	37	c.749	CCDS9551.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.121326|4.121326	0.77436|0.77436	.|.	.|.	ENSG00000165782|ENSG00000165782	ENST00000553460|ENST00000250489;ENST00000398020;ENST00000554028	.|T	.|0.68903	.|-0.36	5.0|5.0	3.85|3.85	0.44370|0.44370	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70011|0.70011	0.3175|0.3175	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P	.|0.52170	.|0.951;0.939	.|P;P	.|0.49502	.|0.613;0.479	T|T	0.72394|0.72394	-0.4307|-0.4307	5|10	.|0.87932	.|D	.|0	-8.173|-8.173	9.7182|9.7182	0.40286|0.40286	0.9165:0.0:0.0835:0.0|0.9165:0.0:0.0835:0.0	.|.	.|243;250	.|Q86T03;Q86T03-2	.|TM55B_HUMAN;.	Q|S	82|243;250;76	.|ENSP00000451350:I76S	.|ENSP00000250489:I243S	H|I	-|-	3|2	2|0	TMEM55B|TMEM55B	19996664|19996664	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	5.045000|5.045000	0.64220|0.64220	0.929000|0.929000	0.37192|0.37192	0.460000|0.460000	0.39030|0.39030	CAT|ATC	TMEM55B	-	pfam_Transmembrane_protein_55A/B	ENSG00000165782		0.512	TMEM55B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM55B	HGNC	protein_coding	OTTHUMT00000073643.3	-	0	26	0	A	NM_144568		20926824	-1	tier1	-	no_errors	ENST00000398020	ensembl	human	known	74_37	missense	34.15	54	28	SNP	1.000	C	C	20926824	A	C	20926824	3	2	52	1	0	0	0	0	1	0	0	0	16229	333	12	4	109	4	TMEM55B	14	20926824	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	81039	20926824	86422716	591	12931											
RAB2B	84932	genome.wustl.edu	37	chr14	21936607	21936607	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggttgaaggtttcacGcctacagcagaaaaatttag	13	10	11	7	1	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	5	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:21936607G>A	ENST00000397762.1	-	5	371	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	91					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		AAGGTTTCACGCCTACAGCAG	0.443																																					Melanoma(131;1007 1750 28652 34486 42672)												0													61	60	60					14																	21936607		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"RAB, member RAS oncogene"	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.270-1C>T	14.37:g.21936607G>A			B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R91C	ENST00000397762.1	37	c.271	CCDS9570.1	14	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821896	0.71028	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.78816	-1.21	5.06	4.15	0.48705	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000013	D	0.90899	0.7140	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92524	0.6027	10	0.72032	D	0.01	.	11.6197	0.51111	0.0:0.0:0.677:0.323	.	91;26	Q8WUD1;Q6NZ33	RAB2B_HUMAN;.	C	91	ENSP00000380869:R91C	ENSP00000302005:R91C	R	-	1	0	RAB2B	21006447	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	1.854000	0.39368	1.315000	0.45114	0.655000	0.94253	CGT	RAB2B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000129472		0.443	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2B	HGNC	protein_coding	OTTHUMT00000074053.4	-	0	25	0	G		Missense_Mutation	21936607	-1	tier1	-	no_errors	ENST00000397762	ensembl	human	known	74_37	missense	47.06	27	24	SNP	1.000	A	A	21936607	G	A	21936607	5	1	52	1	0	0	0	0	0	0	1	0	12963	1101	38	1	395	1	RAB2B	14	21936607	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1009783	21936607	85412933	592	12932											
METTL3	56339	genome.wustl.edu	37	chr14	21969886	21969886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctgaagtgcagcttgcGacagggtcgatcagcatcac	11	7	12	11	2	2	2	2	1	0	1	3	4	2	2	1	1	4	3	1	1	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:21969886G>A	ENST00000298717.4	-	4	1034	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	295					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TGCAGCTTGCGACAGGGTCGA	0.502																																																	0													122	98	106					14																	21969886		2203	4300	6503	SO:0001583	missense	0			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.883C>T	14.37:g.21969886G>A	ENSP00000298717:p.Arg295Cys		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.R295C	ENST00000298717.4	37	c.883	CCDS32044.1	14	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651548	0.47362	.	.	ENSG00000165819	ENST00000298717	.	.	.	5.03	4.14	0.48551	.	0.067077	0.64402	D	0.000007	T	0.38665	0.1049	N	0.22421	0.69	0.80722	D	1	B;D	0.56968	0.001;0.978	B;P	0.49361	0.001;0.608	T	0.26292	-1.0107	9	0.56958	D	0.05	-9.0794	7.7022	0.28630	0.0842:0.0:0.7541:0.1617	.	295;295	B4E2F6;Q86U44	.;MTA70_HUMAN	C	295	.	ENSP00000298717:R295C	R	-	1	0	METTL3	21039726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.257000	0.58816	1.353000	0.45828	0.655000	0.94253	CGC	METTL3	-	NULL	ENSG00000165819		0.502	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	HGNC	protein_coding	OTTHUMT00000401227.1	-	0	64	0	G	NM_019852		21969886	-1	tier1	-	no_errors	ENST00000298717	ensembl	human	known	74_37	missense	19.69	102	25	SNP	1.000	A	A	21969886	G	A	21969886	3	1	52	1	0	0	0	0	1	0	0	0	9539	1058	37	1	891	1	METTL3	14	21969886	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	33279	21969886	85379654	593	12933											
MYH6	4624	genome.wustl.edu	37	chr14	23859332	23859334	+	In_Frame_Del	DEL	CTC	CTC	-																															tccagcttgaactcgctcttCtccttctccagcttctgctt																								rs557990788		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:23859332_23859334delCTC	ENST00000356287.3	-	25	3693_3695	c.3664_3666delGAG	c.(3664-3666)gagdel	p.E1222del	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_In_Frame_Del_p.E1222del			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1222					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACTCGCTCTTCTCCTTCTCCAGC	0.645																																																	0																																										SO:0001651	inframe_deletion	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3664_3666delGAG	14.37:g.23859332_23859334delCTC	ENSP00000348634:p.Glu1222del		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	In_Frame_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1222in_frame_del	ENST00000356287.3	37	c.3666_3664	CCDS9600.1	14																																																																																			MYH6	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000197616		0.645	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3		0	53	0	CTC			23859334	-1			no_errors	ENST00000356287	ensembl	human	known	74_37	in_frame_del	15.96	79	15	DEL	1.000:1.000:1.000	0	-	23859334	CTC	-	23859332	7	5	52	1	0	1	0	1	0	0	0	0	10076	912	32	0	2209	0	MYH6	14	23859332	In_Frame_Del	DEL	CTC	TCGA-L5-A43J-01A-12D-A247-09	1889446	23859332	83490208	594	12934											
PSME2	5721	genome.wustl.edu	37	chr14	24615778	24615778	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctcaggcgcaccccacAcggcttggccatgctgcttc	5	7	10	19	3	1	0	1	0	0	0	2	0	1	0	4	3	2	5	4	3	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24615778A>G	ENST00000216802.5	-	1	652	c.13T>C	c.(13-15)Tgt>Cgt	p.C5R	PSME2_ENST00000471700.2_5'UTR|RNF31_ENST00000559275.1_5'Flank|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000560410.1_Missense_Mutation_p.C5R|RNF31_ENST00000382687.3_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CGCACCCCACACGGCTTGGCC	0.647																																																	0													58	58	58					14																	24615778		2203	4300	6503	SO:0001583	missense	0				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.13T>C	14.37:g.24615778A>G	ENSP00000216802:p.Cys5Arg		Q15129	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.C5R	ENST00000216802.5	37	c.13	CCDS9614.1	14	.	.	.	.	.	.	.	.	.	.	A	13.37	2.215729	0.39102	.	.	ENSG00000100911	ENST00000216802	T	0.21932	1.98	5.22	2.73	0.32206	.	0.755200	0.13435	N	0.388104	T	0.13670	0.0331	L	0.29908	0.895	0.48040	D	0.999579	P	0.37101	0.582	B	0.30251	0.113	T	0.04961	-1.0915	10	0.56958	D	0.05	-0.1677	9.1931	0.37211	0.6419:0.3581:0.0:0.0	.	5	Q9UL46	PSME2_HUMAN	R	5	ENSP00000216802:C5R	ENSP00000216802:C5R	C	-	1	0	PSME2	23685618	0.988000	0.35896	0.995000	0.50966	0.897000	0.52465	0.464000	0.21988	0.383000	0.24910	0.459000	0.35465	TGT	PSME2	-	NULL	ENSG00000100911		0.647	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME2	HGNC	protein_coding	OTTHUMT00000071918.3		0	26	0	A	NM_002818		24615778	-1			no_errors	ENST00000216802	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.991	G	G	24615778	A	G	24615778	3	3	52	1	0	0	0	0	1	0	0	0	12749	159	6	4	750	4	PSME2	14	24615778	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	756446	24615778	82733762	595	12935											
RNF31	55072	genome.wustl.edu	37	chr14	24621199	24621199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccctgccccacaacCgggtaagtccctccccacga	7	5	10	19	2	0	0	0	0	0	0	2	1	2	0	7	2	2	2	7	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24621199C>T	ENST00000324103.6	+	11	2448	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	RNF31_ENST00000559275.1_Missense_Mutation_p.R559W|RP11-468E2.4_ENST00000558468.1_Missense_Mutation_p.R185W|RNF31_ENST00000382687.3_Missense_Mutation_p.R559W	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	710					CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCCCCACAACCGGGTAAGTCC	0.592																																																	0													32	42	39					14																	24621199		1961	4149	6110	SO:0001583	missense	0			AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"RING-type (C3HC4) zinc fingers"	16031	protein-coding gene	gene with protein product	"HOIL-1-interacting protein"	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.2128C>T	14.37:g.24621199C>T	ENSP00000315112:p.Arg710Trp		A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	pfam_PUB_domain,pfam_Znf_C6HC,superfamily_UBA-like,superfamily_DEATH-like_dom,superfamily_Znf_FYVE_PHD,smart_Znf_RanBP2,smart_Znf_C6HC,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RanBP2	p.R710W	ENST00000324103.6	37	c.2128	CCDS41931.1	14	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647269	0.67358	.	.	ENSG00000092098	ENST00000382682;ENST00000324103;ENST00000382687	T;T	0.46451	0.87;0.88	5.83	2.79	0.32731	Zinc finger, RING-type (1);	0.075828	0.53938	D	0.000059	T	0.54029	0.1833	L	0.43152	1.355	0.42751	D	0.993776	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.965;0.965;0.984	T	0.57636	-0.7777	10	0.87932	D	0	-13.1088	13.163	0.59554	0.6141:0.3859:0.0:0.0	.	469;710;559	B3KV71;Q96EP0;Q96EP0-3	.;RNF31_HUMAN;.	W	152;710;559	ENSP00000315112:R710W;ENSP00000372134:R559W	ENSP00000315112:R710W	R	+	1	2	RNF31	23691039	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.005000	0.29834	0.764000	0.33197	0.655000	0.94253	CGG	RNF31	-	NULL	ENSG00000092098		0.592	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF31	HGNC	protein_coding	OTTHUMT00000071921.3	-	0	35	0	C	NM_017999		24621199	1	tier1	-	no_errors	ENST00000324103	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	T	T	24621199	C	T	24621199	3	4	52	1	0	0	0	0	1	0	0	0	13532	643	23	1	2170	1	RNF31	14	24621199	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5421	24621199	82728341	596	12936											
IRF9	10379	genome.wustl.edu	37	chr14	24632612	24632612	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggactcagaaagtaccAtcaaagcgacagcacagttc	15	5	9	12	1	2	1	2	0	0	1	3	3	2	2	2	1	3	3	2	1	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24632612A>G	ENST00000396864.3	+	4	677	c.390A>G	c.(388-390)ccA>ccG	p.P130P	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Silent_p.P28P	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	130					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGAAAGTACCATCAAAGCGAC	0.547																																																	0													219	215	216					14																	24632612		2203	4300	6503	SO:0001819	synonymous_variant	0			M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"interferon-stimulated transcription factor 3, gamma (48kD)", "interferon-stimulated transcription factor 3, gamma 48kDa"	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.390A>G	14.37:g.24632612A>G			D3DS61	Silent	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.P130	ENST00000396864.3	37	c.390	CCDS9615.1	14																																																																																			IRF9	-	NULL	ENSG00000213928		0.547	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	HGNC	protein_coding	OTTHUMT00000071927.2	-	0	75	0	A			24632612	1	tier1	-	no_errors	ENST00000396864	ensembl	human	known	74_37	silent	45.71	56	48	SNP	0.004	G	G	24632612	A	G	24632612	2	3	52	1	0	0	0	0	0	0	0	1	7864	204	8	4		4	IRF9	14	24632612	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	11413	24632612	82716928	597	12937											
KHNYN	23351	genome.wustl.edu	37	chr14	24902031	24902031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttgtgcctcagtggCgcttcagtaaggatgccaaa	8	12	11	10	1	3	0	2	0	1	0	3	1	3	1	2	2	2	2	2	2	2	3	rs200900567		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:24902031C>T	ENST00000251343.5	+	4	1592	c.1453C>T	c.(1453-1455)Cgc>Tgc	p.R485C	KHNYN_ENST00000556842.1_Missense_Mutation_p.R485C|KHNYN_ENST00000554268.1_5'UTR|CBLN3_ENST00000555436.1_5'Flank|KHNYN_ENST00000553935.1_Missense_Mutation_p.R485C			O15037	KHNYN_HUMAN	KH and NYN domain containing	485							RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCCTCAGTGGCGCTTCAGTAA	0.532											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													178	152	160					14																	24902031		2203	4300	6503	SO:0001583	missense	0			AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"KIAA0323"	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.1453C>T	14.37:g.24902031C>T	ENSP00000251343:p.Arg485Cys	774	Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R485C	ENST00000251343.5	37	c.1453	CCDS32058.1	14	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237851	0.58886	.	.	ENSG00000100441	ENST00000251343;ENST00000556842;ENST00000553935	T;T;T	0.50813	0.73;0.73;0.73	4.98	4.98	0.66077	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.73649	-0.3916	10	0.87932	D	0	.	15.7821	0.78269	0.0:1.0:0.0:0.0	.	526;485	D3DS77;O15037	.;KHNYN_HUMAN	C	485	ENSP00000251343:R485C;ENSP00000451106:R485C;ENSP00000450799:R485C	ENSP00000251343:R485C	R	+	1	0	KHNYN	23971871	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.460000	0.21924	2.585000	0.87301	0.462000	0.41574	CGC	KHNYN	-	pfam_RNase_Zc3h12	ENSG00000100441		0.532	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KHNYN	HGNC	protein_coding	OTTHUMT00000412928.1	-	0	32	0	C			24902031	1	tier1	rs200900567	no_errors	ENST00000251343	ensembl	human	known	74_37	missense	52.75	43	48	SNP	1.000	T	T	24902031	C	T	24902031	3	4	52	1	0	0	0	0	1	0	0	0	8177	768	27	1	1463	1	KHNYN	14	24902031	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	269419	24902031	82447509	598	12938											
G2E3	55632	genome.wustl.edu	37	chr14	31074770	31074770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagagttaggattccaaaTtaaaaaaaaaactaaaagat	24	9	5	3	0	0	2	0	0	0	2	1	3	1	3	1	1	1	1	1	1	11	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:31074770T>A	ENST00000206595.6	+	11	1224	c.1070T>A	c.(1069-1071)aTt>aAt	p.I357N	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Missense_Mutation_p.I387N|G2E3_ENST00000438909.2_Missense_Mutation_p.I311N	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	357					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GGATTCCAAATTAAAAAAAAA	0.269																																																	0													25	28	27					14																	31074770		2193	4291	6484	SO:0001583	missense	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1070T>A	14.37:g.31074770T>A	ENSP00000206595:p.Ile357Asn		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.I357N	ENST00000206595.6	37	c.1070	CCDS9638.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.585263|4.585263	0.86748|0.86748	.|.	.|.	ENSG00000092140|ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504|ENST00000552515	T;T;T|.	0.44083|.	0.93;0.93;0.93|.	5.66|5.66	5.66|5.66	0.87406|0.87406	HECT (1);|.	0.305417|.	0.34700|.	N|.	0.003741|.	T|T	0.56746|0.56746	0.2006|0.2006	L|L	0.34521|0.34521	1.04|1.04	0.47511|0.47511	D|D	0.999441|0.999441	D|.	0.53885|.	0.963|.	P|.	0.50490|.	0.642|.	T|T	0.53315|0.53315	-0.8456|-0.8456	10|5	0.87932|.	D|.	0|.	-12.7477|-12.7477	14.7694|14.7694	0.69665|0.69665	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	357|.	Q7L622|.	G2E3_HUMAN|.	N|K	357;311;387|122	ENSP00000206595:I357N;ENSP00000391068:I311N;ENSP00000451653:I387N|.	ENSP00000206595:I357N|.	I|N	+|+	2|3	0|2	G2E3|G2E3	30144521|30144521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.172000|5.172000	0.65003|0.65003	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	ATT|AAT	G2E3	-	superfamily_HECT	ENSG00000092140		0.269	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0	17	0	T	NM_017769		31074770	1			no_errors	ENST00000206595	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	A	A	31074770	T	A	31074770	3	1	52	1	0	0	0	0	1	0	0	0	6164	1493	52	5	1108	5	G2E3	14	31074770	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	6172739	31074770	76274770	599	12939											
LRFN5	145581	genome.wustl.edu	37	chr14	42356300	42356300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctggatctgtcctataatAatctagaaaccattccttgg	12	13	7	9	0	2	1	0	0	2	1	4	2	4	2	3	2	2	1	3	2	5	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:42356300A>G	ENST00000298119.4	+	3	1661	c.472A>G	c.(472-474)Aat>Gat	p.N158D	LRFN5_ENST00000554120.1_Missense_Mutation_p.N158D|LRFN5_ENST00000554171.1_Missense_Mutation_p.N158D	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	158						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCCTATAATAATCTAGAAAC	0.398										HNSCC(30;0.082)																																							0													83	72	76					14																	42356300		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.472A>G	14.37:g.42356300A>G	ENSP00000298119:p.Asn158Asp		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N158D	ENST00000298119.4	37	c.472	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676127	0.67928	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.92048	-2.96;-2.96;-2.96	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	D	0.93334	0.7875	L	0.33710	1.025	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.94132	0.7389	10	0.87932	D	0	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	158;158	G3V364;Q96NI6	.;LRFN5_HUMAN	D	158	ENSP00000298119:N158D;ENSP00000451897:N158D;ENSP00000451067:N158D	ENSP00000298119:N158D	N	+	1	0	LRFN5	41426050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	AAT	LRFN5	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000165379		0.398	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	32	0	A	NM_152447		42356300	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	26.76	52	19	SNP	1.000	G	G	42356300	A	G	42356300	3	3	52	1	0	0	0	0	1	0	0	0	8976	362	13	4	474	4	LRFN5	14	42356300	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	11281530	42356300	64993240	600	12940											
JKAMP	51528	genome.wustl.edu	37	chr14	59965486	59965486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacgcattctgcttggtatTaatgatgctgctccgacctc	7	15	8	11	2	1	1	0	1	1	0	3	2	2	1	2	1	4	5	2	1	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:59965486T>C	ENST00000261247.9	+	5	647	c.500T>C	c.(499-501)tTa>tCa	p.L167S	JKAMP_ENST00000356057.5_Missense_Mutation_p.L175S|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Missense_Mutation_p.L181S|JKAMP_ENST00000425728.2_Missense_Mutation_p.L161S	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	182					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCTTGGTATTAATGATGCTG	0.308																																																	0													94	84	87					14																	59965486		1827	4085	5912	SO:0001583	missense	0			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"Jun N-terminal kinase 1-associated membrane protein"	611176	"chromosome 14 open reading frame 100"	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.500T>C	14.37:g.59965486T>C	ENSP00000261247:p.Leu167Ser		B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	pfam_DUF766	p.L175S	ENST00000261247.9	37	c.524	CCDS45116.1	14	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328283	0.60743	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.39	5.39	0.77823	.	0.366777	0.29515	N	0.011940	T	0.56485	0.1988	L	0.41236	1.265	0.50813	D	0.999898	P;P;B;P;P	0.44429	0.78;0.527;0.235;0.527;0.835	P;B;B;B;P	0.45577	0.486;0.354;0.246;0.354;0.474	T	0.60510	-0.7249	9	0.59425	D	0.04	-39.9199	15.7009	0.77541	0.0:0.0:0.0:1.0	.	182;181;161;175;167	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	S	167;161;181;175;175	.	ENSP00000261247:L167S	L	+	2	0	JKAMP	59035239	0.997000	0.39634	0.992000	0.48379	0.995000	0.86356	7.860000	0.86993	2.169000	0.68431	0.533000	0.62120	TTA	JKAMP	-	pfam_DUF766	ENSG00000050130		0.308	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	JKAMP	HGNC	protein_coding	OTTHUMT00000411430.1	-	0	22	0	T	NM_001098625		59965486	1	tier1	-	no_errors	ENST00000356057	ensembl	human	known	74_37	missense	50.94	26	27	SNP	0.997	C	C	59965486	T	C	59965486	3	2	52	1	0	0	0	0	1	0	0	0	7976	1764	61	4	518	4	JKAMP	14	59965486	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	17609186	59965486	47384054	601	12941											
SYNE2	23224	genome.wustl.edu	37	chr14	64655376	64655376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagatggaaaacaaagttCtacagacagcggacattagt	16	8	10	7	1	1	2	0	0	1	2	1	4	1	4	0	2	4	2	0	2	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:64655376C>G	ENST00000344113.4	+	98	18033	c.17821C>G	c.(17821-17823)Cta>Gta	p.L5941V	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.L2326V|SYNE2_ENST00000394768.2_Missense_Mutation_p.L2326V|SYNE2_ENST00000554584.1_Missense_Mutation_p.L5754V|SYNE2_ENST00000555002.1_Missense_Mutation_p.L2575V|SYNE2_ENST00000358025.3_Missense_Mutation_p.L5941V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5941					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACAAAGTTCTACAGACAGC	0.398																																																	0													93	90	91					14																	64655376		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.17821C>G	14.37:g.64655376C>G	ENSP00000341781:p.Leu5941Val		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L5941V	ENST00000344113.4	37	c.17821	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428272	0.43122	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.58	3.75	0.43078	.	0.000000	0.36740	N	0.002424	T	0.76673	0.4020	L	0.51422	1.61	0.58432	D	0.999998	P;P;P;P;P	0.48998	0.544;0.771;0.782;0.757;0.918	B;B;B;B;P	0.52881	0.437;0.348;0.223;0.403;0.712	T	0.72197	-0.4363	10	0.23891	T	0.37	.	8.8049	0.34932	0.0:0.7119:0.0:0.2881	.	2326;329;5754;5941;5941	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	V	5941;2326;5941;5754;5760;2575;2326	ENSP00000350719:L5941V;ENSP00000349969:L2326V;ENSP00000341781:L5941V;ENSP00000452570:L5754V;ENSP00000450831:L2575V;ENSP00000378249:L2326V	ENSP00000261678:L5760V	L	+	1	2	SYNE2	63725129	0.758000	0.28405	0.972000	0.41901	0.896000	0.52359	0.162000	0.16501	1.354000	0.45846	0.650000	0.86243	CTA	SYNE2	-	smart_Spectrin/alpha-actinin	ENSG00000054654		0.398	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0	13	0	C	NM_182914		64655376	1			no_errors	ENST00000358025	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.779	G	G	64655376	C	G	64655376	3	3	52	1	0	0	0	0	1	0	0	0	15493	912	32	5	18207	5	SYNE2	14	64655376	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4689890	64655376	42694164	602	12942											
NRXN3	9369	genome.wustl.edu	37	chr14	79270068	79270068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccgcttcatgtcccagcGagcttatgggctgctggtgg	4	12	13	12	2	1	0	1	0	0	0	3	1	3	0	2	3	3	4	2	3	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:79270068G>A	ENST00000554719.1	+	6	1522	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	NRXN3_ENST00000335750.5_Missense_Mutation_p.R344Q	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	121					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATGTCCCAGCGAGCTTATGGG	0.552																																																	0													180	132	148					14																	79270068		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1031G>A	14.37:g.79270068G>A	ENSP00000451648:p.Arg344Gln		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.R715Q	ENST00000554719.1	37	c.2144	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.683423	0.96774	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.77750	-1.12;-1.12	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89076	0.6612	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.87318	0.2316	8	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	717;344	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	Q	717;715;344;344	ENSP00000451648:R344Q;ENSP00000338349:R344Q	.	R	+	2	0	NRXN3	78339821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGA	NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.552	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	-	0	44	0	G	NM_001105250		79270068	1	tier1	-	no_errors	ENST00000554738	ensembl	human	known	74_37	missense	79.12	19	72	SNP	1.000	A	A	79270068	G	A	79270068	3	1	52	1	0	0	0	0	1	0	0	0	10706	1058	37	1	1045	1	NRXN3	14	79270068	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	14614692	79270068	28079472	603	12943											
RPS6KA5	9252	genome.wustl.edu	37	chr14	91366489	91366489	+	Frame_Shift_Del	DEL	T	T	-																															gactgcaaaagcttggttacTttttttatgcacacactttc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:91366489delT	ENST00000261991.3	-	11	1515	c.1342delA	c.(1342-1344)agtfs	p.S448fs	RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs|RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	448	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCTTGGTTACTTTTTTTATGC	0.323																																																	0													91	92	92					14																	91366489		2203	4300	6503	SO:0001589	frameshift_variant	0			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.1342delA	14.37:g.91366489delT	ENSP00000261991:p.Ser448fs		O95316|Q96AF7	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.S448fs	ENST00000261991.3	37	c.1342	CCDS9893.1	14																																																																																			RPS6KA5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000100784		0.323	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2		0	30	0	T	NM_004755		91366489	-1	tier1		no_errors	ENST00000261991	ensembl	human	known	74_37	frame_shift_del	58.25	43	60	DEL	1.000	-	-	91366489	T	-	91366489	7	5	52	1	0	1	0	1	0	0	0	0	13699	1609	56	0	1100	0	RPS6KA5	14	91366489	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	12096421	91366489	15983051	604	12944											
CCDC88C	440193	genome.wustl.edu	37	chr14	91739502	91739503	+	Frame_Shift_Ins	INS	-	-	G																															cgggccaggctatgggagctINSggggggtgcggggctttgca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:91739502_91739503insG	ENST00000389857.6	-	30	5639_5640	c.5553_5554insC	c.(5551-5556)cccagcfs	p.S1852fs	CCDC88C_ENST00000331194.7_Frame_Shift_Ins_p.S376fs	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1852					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTATGGGAGCTGGGGGGTGCGG	0.698																																																	0																																										SO:0001589	frameshift_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5554dupC	14.37:g.91739508_91739508dupG	ENSP00000374507:p.Ser1852fs		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Frame_Shift_Ins	INS	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.S1851fs	ENST00000389857.6	37	c.5554_5553	CCDS45151.1	14																																																																																			CCDC88C	-	NULL	ENSG00000015133		0.698	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0	8	0	0	XM_029353		91739503	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	frame_shift_ins	30.77	9	4	INS	0.035:0.000	G	G	91739503	-	G	91739502	7	5	52	1	0	1	1	0	0	0	0	0	2872	1580	55	0	536	0	CCDC88C	14	91739502	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	373013	91739502	15610038	605	12945											
BEGAIN	57596	genome.wustl.edu	37	chr14	101004530	101004530	+	Frame_Shift_Del	DEL	C	C	-																															caccccgagcctgtccccgtCccccccctcgctgggtgcat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:101004530delC	ENST00000355173.2	-	7	1629	c.1558delG	c.(1558-1560)gacfs	p.D520fs	CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000556751.1_Frame_Shift_Del_p.D456fs|BEGAIN_ENST00000443071.2_Frame_Shift_Del_p.D520fs	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	520						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CTGTCCCCGTCCCCCCCCTCG	0.731																																					NSCLC(159;1889 2010 9965 27479 40101)												0									,	40,26,3774		5,0,30,1,24,1860	5	6	5		,	-1.4	0	14		5	71,89,7364		3,0,65,6,77,3611	no	codingComplex,codingComplex	BEGAIN	NM_020836.3,NM_001159531.1	,	8,0,95,7,101,5471	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1265,1.7188,1.9887	,	,	101004530	111,115,11138	2064	4061	6125	SO:0001589	frameshift_variant	0			BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"brain-enriched guanylate kinase-associated homolog (rat)"			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1558delG	14.37:g.101004530delC	ENSP00000347301:p.Asp520fs		Q9NPU3|Q9P282	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.D520fs	ENST00000355173.2	37	c.1558	CCDS9962.1	14																																																																																			BEGAIN	-	NULL	ENSG00000183092		0.731	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BEGAIN	HGNC	protein_coding	OTTHUMT00000414329.1		0	8	0	C	NM_020836		101004530	-1	tier1		no_errors	ENST00000355173	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	0.003	-	-	101004530	C	-	101004530	7	5	52	1	0	1	0	1	0	0	0	0	1398	855	30	0	227	0	BEGAIN	14	101004530	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	9265028	101004530	6345010	606	12946											
INF2	64423	genome.wustl.edu	37	chr14	105180705	105180705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttggaggagggtggtcCacggcccctggagaggcgtt	6	7	19	9	2	0	1	0	0	0	1	1	4	1	3	3	7	0	3	3	7	0	2	rs376139171		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105180705C>T	ENST00000392634.4	+	21	3318	c.3206C>T	c.(3205-3207)cCa>cTa	p.P1069L	INF2_ENST00000330634.7_Missense_Mutation_p.P1069L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1069					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAGGGTGGTCCACGGCCCCTG	0.667																																																	0								C	LEU/PRO,LEU/PRO	0,3862		0,0,1931	32	40	37		3206,3206	2.9	0	14		37	4,8202		0,4,4099	no	missense,missense	INF2	NM_022489.3,NM_001031714.3	98,98	0,4,6030	TT,TC,CC		0.0487,0.0,0.0331	benign,benign	1069/1250,1069/1241	105180705	4,12064	1931	4103	6034	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3206C>T	14.37:g.105180705C>T	ENSP00000376410:p.Pro1069Leu		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.P1069L	ENST00000392634.4	37	c.3206	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865930	0.32977	0.0	4.87E-4	ENSG00000203485	ENST00000330634;ENST00000392634	D;D	0.83075	-1.66;-1.68	3.79	2.89	0.33648	.	1.901300	0.03206	N	0.175424	T	0.76212	0.3956	L	0.32530	0.975	0.23795	N	0.996826	B;B	0.13594	0.008;0.005	B;B	0.14023	0.01;0.004	T	0.57791	-0.7750	10	0.26408	T	0.33	.	7.9582	0.30055	0.0:0.8783:0.0:0.1217	.	1069;1069	Q27J81-2;Q27J81	.;INF2_HUMAN	L	1069	ENSP00000376406:P1069L;ENSP00000376410:P1069L	ENSP00000252527:P537L	P	+	2	0	INF2	104251750	0.003000	0.15002	0.003000	0.11579	0.033000	0.12548	1.076000	0.30729	0.888000	0.36160	0.491000	0.48974	CCA	INF2	-	NULL	ENSG00000203485		0.667	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	-	0	34	0	C	NM_022489		105180705	1	tier1	-	no_errors	ENST00000392634	ensembl	human	known	74_37	missense	84.62	13	77	SNP	0.011	T	T	105180705	C	T	105180705	3	4	52	1	0	0	0	0	1	0	0	0	7761	594	21	3	3288	3	INF2	14	105180705	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4176175	105180705	2168835	607	12947											
AKT1	207	genome.wustl.edu	37	chr14	105246502	105246502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgtagccaatgaaggtgCcatcattcttgaggaggaag	11	10	12	8	0	2	2	1	2	1	0	2	4	2	4	3	3	2	1	3	3	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105246502C>T	ENST00000554581.1	-	2	1578	c.98G>A	c.(97-99)gGc>gAc	p.G33D	AKT1_ENST00000402615.2_Missense_Mutation_p.G33D|AKT1_ENST00000349310.3_Missense_Mutation_p.G33D|AKT1_ENST00000544168.1_5'Flank|AKT1_ENST00000554848.1_Missense_Mutation_p.G33D|AKT1_ENST00000407796.2_Missense_Mutation_p.G33D|AKT1_ENST00000555528.1_Missense_Mutation_p.G33D			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	33	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AATGAAGGTGCCATCATTCTT	0.592		1	Mis		"breast, colorectal, ovarian, NSCLC"																																			Dom	yes		14	14q32.32	207	v-akt murine thymoma viral oncogene homolog 1		E	0													133	99	110					14																	105246502		2202	4300	6502	SO:0001583	missense	0			M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"Pleckstrin homology (PH) domain containing"	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.98G>A	14.37:g.105246502C>T	ENSP00000451828:p.Gly33Asp		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.G33D	ENST00000554581.1	37	c.98	CCDS9994.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312645	0.81358	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000554848;ENST00000555926	T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81854	-0.0741	10	0.87932	D	0	.	17.5048	0.87742	0.0:1.0:0.0:0.0	.	33	P31749	AKT1_HUMAN	D	33	ENSP00000451828:G33D;ENSP00000384293:G33D;ENSP00000270202:G33D;ENSP00000385326:G33D;ENSP00000450688:G33D;ENSP00000451166:G33D;ENSP00000451824:G33D	ENSP00000270202:G33D	G	-	2	0	AKT1	104317547	1.000000	0.71417	0.856000	0.33681	0.295000	0.27426	7.536000	0.82023	2.478000	0.83669	0.462000	0.41574	GGC	AKT1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000142208		0.592	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1	HGNC	protein_coding	OTTHUMT00000410418.1	-	0	41	0	C	NM_005163		105246502	-1	tier1	-	no_errors	ENST00000349310	ensembl	human	known	74_37	missense	10.43	103	12	SNP	1.000	T	T	105246502	C	T	105246502	3	4	52	1	0	0	0	0	1	0	0	0	478	739	26	3	1392	3	AKT1	14	105246502	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	65797	105246502	2103038	608	12948											
KIAA0284	283638	genome.wustl.edu	37	chr14	105353130	105353130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagctacggcctggaCggtccccagaacccgacggc	8	5	11	17	4	1	1	1	0	0	1	3	3	3	2	5	4	3	1	5	4	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105353130C>T	ENST00000414716.3	+	12	2782	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W	CEP170B_ENST00000418279.1_Missense_Mutation_p.R782W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R782W|CEP170B_ENST00000453495.1_Missense_Mutation_p.R853W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	852						cytoplasm (GO:0005737)|microtubule (GO:0005874)											ACGGCCTGGACGGTCCCCAGA	0.677																																																	0													30	39	36					14																	105353130		2019	4152	6171	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2554C>T	14.37:g.105353130C>T	ENSP00000404151:p.Arg852Trp		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R853W	ENST00000414716.3	37	c.2557	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608331	0.28623	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.63	1.74	0.24563	.	1.482120	0.04313	N	0.349313	T	0.43523	0.1251	L	0.44542	1.39	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.997	P;P;P	0.50708	0.635;0.549;0.648	T	0.17776	-1.0358	10	0.72032	D	0.01	-5.4196	2.8546	0.05568	0.1463:0.5513:0.1419:0.1605	.	852;852;782	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	782;852;853;782	ENSP00000451249:R782W;ENSP00000404151:R852W;ENSP00000407238:R853W;ENSP00000415006:R782W	ENSP00000404151:R852W	R	+	1	2	KIAA0284	104424175	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.031000	0.13710	0.056000	0.16144	0.462000	0.41574	CGG	CEP170B	-	NULL	ENSG00000099814		0.677	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0	24	0	C	NM_001112726		105353130	1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	missense	23.73	44	14	SNP	0.001	T	T	105353130	C	T	105353130	3	4	52	1	0	0	0	0	1	0	0	0	8193	527	19	1	2596	1	KIAA0284	14	105353130	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	106628	105353130	1996410	609	12949											
AHNAK2	113146	genome.wustl.edu	37	chr14	105411968	105411968	+	Missense_Mutation	SNP	T	T	C																															ggcctcgacgtccacctccaTgctgggctgagacacctcca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105411968T>C	ENST00000333244.5	-	7	9939	c.9820A>G	c.(9820-9822)Atg>Gtg	p.M3274V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3274						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCTCCATGCTGGGCTGA	0.632																																																	0													105	75	84					14																	105411968		1897	4013	5910	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9820A>G	14.37:g.105411968T>C	ENSP00000353114:p.Met3274Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.M3274V	ENST00000333244.5	37	c.9820	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.133628	0.00030	.	.	ENSG00000185567	ENST00000333244	T	0.00666	5.91	3.87	1.01	0.19927	.	.	.	.	.	T	0.00384	0.0012	N	0.01219	-0.95	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43310	-0.9399	9	0.27785	T	0.31	.	5.3527	0.16043	0.0:0.4976:0.2519:0.2506	.	3274	Q8IVF2	AHNK2_HUMAN	V	3274	ENSP00000353114:M3274V	ENSP00000353114:M3274V	M	-	1	0	AHNAK2	104483013	0.000000	0.05858	0.041000	0.18516	0.001000	0.01503	-2.128000	0.01314	-0.097000	0.12307	-1.929000	0.00512	ATG	AHNAK2	-	NULL	ENSG00000185567		0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0	81	0	T	NM_138420		105411968	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	missense	6.34	192	13	SNP	0.001	C	C	105411968	T	C	105411968	3	2	52	1	0	0	0	0	1	0	0	0	415	1464	51	4	7571	4	AHNAK2	14	105411968	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	58838	105411968	1937572	610	12950	50	2									
AHNAK2	113146	genome.wustl.edu	37	chr14	105411976	105411976	+	Missense_Mutation	SNP	T	T	A																															cgtccacctccatgctgggcTgagacacctccacgtcgggg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105411976T>A	ENST00000333244.5	-	7	9931	c.9812A>T	c.(9811-9813)cAg>cTg	p.Q3271L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3271						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATGCTGGGCTGAGACACCTC	0.622																																																	0													100	74	83					14																	105411976		1867	3744	5611	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9812A>T	14.37:g.105411976T>A	ENSP00000353114:p.Gln3271Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q3271L	ENST00000333244.5	37	c.9812	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	t	2.650	-0.282264	0.05642	.	.	ENSG00000185567	ENST00000333244	T	0.00724	5.78	3.87	-2.71	0.05986	.	.	.	.	.	T	0.00210	0.0006	N	0.00072	-2.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46456	-0.9190	9	0.26408	T	0.33	.	0.4475	0.00496	0.264:0.1379:0.1956:0.4026	.	3271	Q8IVF2	AHNK2_HUMAN	L	3271	ENSP00000353114:Q3271L	ENSP00000353114:Q3271L	Q	-	2	0	AHNAK2	104483021	0.000000	0.05858	0.086000	0.20670	0.017000	0.09413	-0.197000	0.09518	0.015000	0.14971	-0.546000	0.04227	CAG	AHNAK2	-	NULL	ENSG00000185567		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0	73	0	T	NM_138420		105411976	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	missense	5.53	188	11	SNP	0.000	A	A	105411976	T	A	105411976	3	1	52	1	0	0	0	0	1	0	0	0	415	1580	55	5	7579	5	AHNAK2	14	105411976	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	8	105411976	1937564	611	12951	50	2									
AHNAK2	113146	genome.wustl.edu	37	chr14	105412925	105412925	+	Silent	SNP	G	G	A																															ctccagccgtgcaccatccaGctttgctctcggggcctcga																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105412925G>A	ENST00000333244.5	-	7	8982	c.8863C>T	c.(8863-8865)Ctg>Ttg	p.L2955L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2955						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCACCATCCAGCTTTGCTCTC	0.617																																																	0													183	197	193					14																	105412925		2022	4187	6209	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8863C>T	14.37:g.105412925G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L2955	ENST00000333244.5	37	c.8863	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0	66	0	G	NM_138420		105412925	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	silent	11.90	148	20	SNP	0.048	A	A	105412925	G	A	105412925	2	1	52	1	0	0	0	0	0	0	0	1	415	962	34	3		3	AHNAK2	14	105412925	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	949	105412925	1936615	612	12952	51	3									
AHNAK2	113146	genome.wustl.edu	37	chr14	105412929	105412929	+	Silent	SNP	T	T	G																															agccgtgcaccatccagcttTgctctcggggcctcgacgtc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105412929T>G	ENST00000333244.5	-	7	8978	c.8859A>C	c.(8857-8859)gcA>gcC	p.A2953A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2953						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCCAGCTTTGCTCTCGGGG	0.627																																																	0													178	192	188					14																	105412929		2020	4187	6207	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8859A>C	14.37:g.105412929T>G			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A2953	ENST00000333244.5	37	c.8859	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0	70	0	T	NM_138420		105412929	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	silent	13.77	144	23	SNP	0.000	G	G	105412929	T	G	105412929	2	3	52	1	0	0	0	0	0	0	0	1	415	1799	63	4		4	AHNAK2	14	105412929	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	4	105412929	1936611	613	12953	51	3									
AHNAK2	113146	genome.wustl.edu	37	chr14	105412934	105412935	+	Missense_Mutation	DNP	TC	TC	CT																															tgcaccatccagctttgctcTcggggcctcgacgtccacct																								rs548525077	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr14:105412934_105412935TC>CT	ENST00000333244.5	-	7	8972_8973	c.8853_8854GA>AG	c.(8851-8856)ccGAga>ccAGga	p.R2952G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2952						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCTTTGCTCTCGGGGCCTCGA	0.619																																																	0																																										SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.8853_8854delinsCT	14.37:g.105412934_105412935delinsCT	ENSP00000353114:p.Arg2952Gly		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation|Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R2952G|p.P2951	ENST00000333244.5	37	c.8854|c.8853	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.619	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0	65|66	0	T|C	NM_138420		105412934|105412935	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	missense|silent	13.38|11.88	136|140	21|19	SNP	0.000	C|T	CT	105412935	TC	CT	105412934	3	2	52	1	0	0	0	0	1	0	0	0	415	1559	54	4	8537	4	AHNAK2	14	105412934	Missense_Mutation	DNP	TC	TCGA-L5-A43J-01A-12D-A247-09	5	105412934	1936606	614	12954	51	3									
SRP14	6727	genome.wustl.edu	37	chr15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-																															gctgttgctgctgcggcaggTgctgctgctgctgctgctgc																								rs371085676|rs377432895	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																																	0																																										SO:0001651	inframe_deletion	0				CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"signal recognition particle 14kD (homologous Alu RNA-binding protein)"			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14,prints_Antifreeze_1	p.A116in_frame_del	ENST00000267884.6	37	c.348_346	CCDS42017.1	15																																																																																			SRP14	-	prints_Antifreeze_1	ENSG00000140319		0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP14	HGNC	protein_coding	OTTHUMT00000418262.2		0	57	0	TGC	NM_003134		40328599	-1	tier1		no_errors	ENST00000267884	ensembl	human	known	74_37	in_frame_del	10.58	93	11	DEL	0.058:0.058:0.057	-	-	40328599	TGC	-	40328597	7	5	52	1	0	1	0	1	0	0	0	0	15200	1683	59	0	66	0	SRP14	15	40328597	In_Frame_Del	DEL	TGC	TCGA-L5-A43J-01A-12D-A247-09		40328597	62202795	615	12955											
SPTBN5	51332	genome.wustl.edu	37	chr15	42160632	42160632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagcaagaagtgcctgCtgccccagctgggtggcctg	6	7	14	14	0	0	1	0	0	0	1	0	1	0	1	5	2	6	4	5	2	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:42160632C>T	ENST00000320955.6	-	33	6248	c.6021G>A	c.(6019-6021)caG>caA	p.Q2007Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2007					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAAGTGCCTGCTGCCCCAGCT	0.692																																																	0													15	19	18					15																	42160632		1984	4150	6134	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6021G>A	15.37:g.42160632C>T				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q2007	ENST00000320955.6	37	c.6021		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.692	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	46	0	C	NM_016642		42160632	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	silent	73.85	17	48	SNP	0.992	T	T	42160632	C	T	42160632	2	4	52	1	0	0	0	0	0	0	0	1	15169	796	28	3		3	SPTBN5	15	42160632	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1832035	42160632	60370760	616	12956											
MAP1A	4130	genome.wustl.edu	37	chr15	43817459	43817459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccccatgcagccacagCgtcacctcccacagatggga	11	4	10	16	1	1	2	1	0	0	2	2	3	2	3	5	1	4	1	5	1	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:43817459C>T	ENST00000300231.5	+	4	4238	c.3788C>T	c.(3787-3789)gCg>gTg	p.A1263V	MAP1A_ENST00000382031.1_Missense_Mutation_p.A1501V|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1263V			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1263					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAGCCACAGCGTCACCTCCC	0.542																																																	0													77	91	87					15																	43817459		2154	4260	6414	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3788C>T	15.37:g.43817459C>T	ENSP00000300231:p.Ala1263Val		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.A1263V	ENST00000300231.5	37	c.3788	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.252263	0.01469	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01246	5.11;5.11;5.11	4.98	-0.276	0.12902	.	.	.	.	.	T	0.00356	0.0011	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46569	-0.9182	9	0.09843	T	0.71	-0.3214	1.1408	0.01765	0.1408:0.1806:0.3209:0.3577	.	1263	P78559	MAP1A_HUMAN	V	1501;1263;1263	ENSP00000371462:A1501V;ENSP00000382380:A1263V;ENSP00000300231:A1263V	ENSP00000300231:A1263V	A	+	2	0	MAP1A	41604751	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.219000	0.09228	0.071000	0.16664	-0.339000	0.08088	GCG	MAP1A	-	NULL	ENSG00000166963		0.542	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	-	0	17	0	C	NM_002373		43817459	1	tier1	-	no_errors	ENST00000399453	ensembl	human	known	74_37	missense	75.76	8	25	SNP	0.000	T	T	43817459	C	T	43817459	3	4	52	1	0	0	0	0	1	0	0	0	9265	768	27	1	3790	1	MAP1A	15	43817459	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1656827	43817459	58713933	617	12957											
PRTG	283659	genome.wustl.edu	37	chr15	55965576	55965576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaaattcacctttcacGcttgtagctttgggcgtcct	7	15	8	11	2	3	1	3	0	0	1	4	1	4	1	2	1	1	3	2	1	2	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:55965576G>A	ENST00000389286.4	-	10	1892	c.1845C>T	c.(1843-1845)agC>agT	p.S615S		NM_173814.4	NP_776175.2			protogenin									p.S615S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACCTTTCACGCTTGTAGCTT	0.378																																																	1	Substitution - coding silent(1)	large_intestine(1)											54	53	53					15																	55965576		1855	4099	5954	SO:0001819	synonymous_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1845C>T	15.37:g.55965576G>A				Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S615	ENST00000389286.4	37	c.1845	CCDS42040.1	15																																																																																			PRTG	-	pfscan_Fibronectin_type3	ENSG00000166450		0.378	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	-	0	24	0	G	NM_173814		55965576	-1	tier1	-	no_errors	ENST00000389286	ensembl	human	known	74_37	silent	48.65	19	18	SNP	0.935	A	A	55965576	G	A	55965576	2	1	52	1	0	0	0	0	0	0	0	1	12680	1078	38	1		1	PRTG	15	55965576	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	12148117	55965576	46565816	618	12958											
VPS13C	54832	genome.wustl.edu	37	chr15	62202414	62202414	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtgccattatcctgtcGgttataaaagaatggtttgg	12	14	10	5	1	0	1	0	0	0	1	2	1	1	1	2	3	1	2	2	3	7	5	rs148074630		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:62202414G>A	ENST00000261517.5	-	64	8879	c.8806C>T	c.(8806-8808)Cga>Tga	p.R2936*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.R2936*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.R2893*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.R2893*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTATCCTGTCGGTTATAAAAG	0.299																																																	0								G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	47	47	47		8806,8677,8677,8806	2.7	0.4	15	dbSNP_134	47	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained	VPS13C	NM_001018088.2,NM_017684.4,NM_018080.3,NM_020821.2	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	2936/3629,2893/3711,2893/3586,2936/3754	62202414	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8806C>T	15.37:g.62202414G>A	ENSP00000261517:p.Arg2936*			Nonsense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.R2936*	ENST00000261517.5	37	c.8806	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	50	16.144693	0.99855	0.0	1.16E-4	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.85	2.69	0.31865	.	0.583473	0.18001	N	0.154914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	14.054	0.64756	0.0:0.0:0.4878:0.5122	.	.	.	.	X	2893;2936;2936;2936	.	ENSP00000249837:R2893X	R	-	1	2	VPS13C	59989706	0.127000	0.22367	0.374000	0.26016	0.988000	0.76386	0.791000	0.26915	0.735000	0.32537	0.655000	0.94253	CGA	VPS13C	-	pfam_VPSAP_dom	ENSG00000129003		0.299	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	19	0	G	NM_017684		62202414	-1	tier1	rs148074630	no_errors	ENST00000261517	ensembl	human	known	74_37	nonsense	94.12	1	16	SNP	0.038	A	A	62202414	G	A	62202414	4	1	52	1	0	0	0	0	0	1	0	0	17240	1124	39	1	2571	1	VPS13C	15	62202414	Nonsense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6236838	62202414	40328978	619	12959											
IGDCC3	9543	genome.wustl.edu	37	chr15	65628266	65628266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcacccacggtggcCtggggatgcacgtggaagtc	6	7	13	15	2	1	0	1	0	0	0	3	2	2	2	4	5	1	1	4	5	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:65628266C>A	ENST00000327987.4	-	3	689	c.438G>T	c.(436-438)caG>caT	p.Q146H	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	146	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACGGTGGCCTGGGGATGCA	0.592																																																	0													91	80	84					15																	65628266		2201	4299	6500	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.438G>T	15.37:g.65628266C>A	ENSP00000332773:p.Gln146His		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q146H	ENST00000327987.4	37	c.438	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608870	0.66558	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.68181	-0.31	5.06	2.85	0.33270	Immunoglobulin I-set (1);	0.148138	0.46758	D	0.000261	T	0.71459	0.3342	L	0.48642	1.525	0.44061	D	0.996809	D	0.65815	0.995	D	0.68483	0.958	T	0.69320	-0.5176	10	0.62326	D	0.03	-20.7366	7.1768	0.25749	0.0:0.5727:0.0:0.4273	.	146	Q8IVU1	IGDC3_HUMAN	H	146;9	ENSP00000332773:Q146H	ENSP00000332773:Q146H	Q	-	3	2	IGDCC3	63415319	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	1.426000	0.34870	0.455000	0.26910	0.655000	0.94253	CAG	IGDCC3	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000174498		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0	40	0	C	NM_004884		65628266	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	68.92	23	51	SNP	0.999	A	A	65628266	C	A	65628266	3	1	52	1	0	0	0	0	1	0	0	0	7595	680	24	3	2054	3	IGDCC3	15	65628266	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3425852	65628266	36903126	620	12960											
IGDCC4	57722	genome.wustl.edu	37	chr15	65702608	65702608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcaaagcgagctgtcccGttctcctccaccgtctgaga	8	9	8	16	3	3	1	1	1	2	1	6	3	5	1	4	0	2	2	4	0	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:65702608G>A	ENST00000352385.2	-	3	680	c.471C>T	c.(469-471)aaC>aaT	p.N157N		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	157	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAGCTGTCCCGTTCTCCTCCA	0.577																																																	0													82	71	75					15																	65702608		2201	4299	6500	SO:0001819	synonymous_variant	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.471C>T	15.37:g.65702608G>A			Q9HCE4	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N157	ENST00000352385.2	37	c.471	CCDS10206.1	15																																																																																			IGDCC4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000103742		0.577	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0	30	0	G	NM_020962		65702608	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	silent	78.38	8	29	SNP	0.011	A	A	65702608	G	A	65702608	2	1	52	1	0	0	0	0	0	0	0	1	7596	1136	40	1		1	IGDCC4	15	65702608	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	74342	65702608	36828784	621	12961											
MAP2K1	5604	genome.wustl.edu	37	chr15	66777404	66777404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtctctggtagagatggCggttgggaggtatcccatcc	7	11	14	9	1	1	1	0	0	1	1	4	3	3	2	2	5	0	3	2	5	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:66777404C>T	ENST00000307102.5	+	7	1301	c.770C>T	c.(769-771)gCg>gTg	p.A257V	MAP2K1_ENST00000566326.1_Missense_Mutation_p.A81V	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	GTAGAGATGGCGGTTGGGAGG	0.572																																																	0													120	109	113					15																	66777404		2201	4299	6500	SO:0001583	missense	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.770C>T	15.37:g.66777404C>T	ENSP00000302486:p.Ala257Val			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A257V	ENST00000307102.5	37	c.770	CCDS10216.1	15	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245248	0.80024	.	.	ENSG00000169032	ENST00000307102	T	0.64991	-0.13	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	L	0.39566	1.225	0.80722	D	1	P;P	0.49307	0.922;0.697	B;B	0.38458	0.274;0.274	T	0.62388	-0.6865	10	0.62326	D	0.03	-22.2226	18.2547	0.90015	0.0:1.0:0.0:0.0	.	235;257	B4DFY5;Q02750	.;MP2K1_HUMAN	V	257	ENSP00000302486:A257V	ENSP00000302486:A257V	A	+	2	0	MAP2K1	64564458	1.000000	0.71417	0.962000	0.40283	0.886000	0.51366	7.726000	0.84824	2.545000	0.85829	0.467000	0.42956	GCG	MAP2K1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000169032		0.572	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	-	0	43	0	C			66777404	1	tier1	-	no_errors	ENST00000307102	ensembl	human	known	74_37	missense	81.25	12	52	SNP	1.000	T	T	66777404	C	T	66777404	3	4	52	1	0	0	0	0	1	0	0	0	9274	768	27	1	796	1	MAP2K1	15	66777404	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1074796	66777404	35753988	622	12962											
PML	5371	genome.wustl.edu	37	chr15	74335396	74335396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaaggccccagcaccCtcagggtcctggacgagaac	10	4	13	14	1	1	1	1	0	0	1	2	4	2	3	4	4	3	2	4	4	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:74335396C>A	ENST00000268058.3	+	8	1873	c.1777C>A	c.(1777-1779)Ctc>Atc	p.L593I	PML_ENST00000569965.1_3'UTR|PML_ENST00000565898.1_Missense_Mutation_p.L545I|PML_ENST00000564428.1_Missense_Mutation_p.L545I|PML_ENST00000359928.4_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.L593I	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	593					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCCAGCACCCTCAGGGTCCT	0.552			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													101	99	100					15																	74335396		2198	4297	6495	SO:0001583	missense	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1777C>A	15.37:g.74335396C>A	ENSP00000268058:p.Leu593Ile		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.L593I	ENST00000268058.3	37	c.1777	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627521	0.28978	.	.	ENSG00000140464	ENST00000395135;ENST00000268058;ENST00000417341;ENST00000418568	T	0.66280	-0.2	4.76	1.79	0.24919	.	0.786907	0.10463	N	0.671766	T	0.60830	0.2299	L	0.29908	0.895	0.09310	N	0.999999	D;D;D;D	0.59767	0.976;0.986;0.986;0.986	P;P;P;P	0.60286	0.686;0.782;0.872;0.872	T	0.48422	-0.9037	10	0.62326	D	0.03	-17.7675	4.0611	0.09839	0.1847:0.6192:0.0:0.196	.	593;545;545;593	P29590;P29590-11;P29590-12;P29590-5	PML_HUMAN;.;.;.	I	593;593;154;593	ENSP00000268058:L593I	ENSP00000268058:L593I	L	+	1	0	PML	72122449	0.000000	0.05858	0.010000	0.14722	0.047000	0.14425	0.042000	0.13949	0.221000	0.20879	0.491000	0.48974	CTC	PML	-	NULL	ENSG00000140464		0.552	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	-	0	19	0	C	NM_002675		74335396	1	tier1	-	no_errors	ENST00000268058	ensembl	human	known	74_37	missense	53.85	18	21	SNP	0.014	A	A	74335396	C	A	74335396	3	1	52	1	0	0	0	0	1	0	0	0	12174	681	24	3	2783	3	PML	15	74335396	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	7557992	74335396	28195996	623	12963											
CCDC33	80125	genome.wustl.edu	37	chr15	74623335	74623337	+	In_Frame_Del	DEL	AGA	AGA	-																															ctcacagaagaatgatcgagAgaaggagctgctccttctgt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:74623335_74623337delAGA	ENST00000398814.3	+	14	1990_1992	c.1559_1561delAGA	c.(1558-1563)gagaag>gag	p.K521del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K724del|CCDC33_ENST00000558821.1_In_Frame_Del_p.K114del|CCDC33_ENST00000268082.4_In_Frame_Del_p.K114del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	724										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AATGATCGAGAGAAGGAGCTGCT	0.606																																																	0																																										SO:0001651	inframe_deletion	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1559_1561delAGA	15.37:g.74623335_74623337delAGA	ENSP00000381795:p.Lys521del		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	In_Frame_Del	DEL	pfam_C2_dom,superfamily_C2_dom	p.K724in_frame_del	ENST00000398814.3	37	c.2168_2170	CCDS42058.1	15																																																																																			CCDC33	-	NULL	ENSG00000140481		0.606	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2		0	32	0	AGA	NM_182791		74623337	1	tier1		no_errors	ENST00000321288	ensembl	human	known	74_37	in_frame_del	62.50	12	20	DEL	1.000:1.000:1.000	-	-	74623337	AGA	-	74623335	7	5	52	1	0	1	0	1	0	0	0	0	2813	304	11	0	1686	0	CCDC33	15	74623335	In_Frame_Del	DEL	AGA	TCGA-L5-A43J-01A-12D-A247-09	287939	74623335	27908057	624	12964	52	2									
CCDC33	80125	genome.wustl.edu	37	chr15	74623337	74623337	+	Missense_Mutation	SNP	A	A	G																															cacagaagaatgatcgagagAaggagctgctccttctgtat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:74623337A>G	ENST00000398814.3	+	14	1992	c.1561A>G	c.(1561-1563)Aag>Gag	p.K521E	CCDC33_ENST00000321288.5_Missense_Mutation_p.K724E|CCDC33_ENST00000558821.1_Missense_Mutation_p.K114E|CCDC33_ENST00000268082.4_Missense_Mutation_p.K114E	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	724										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGATCGAGAGAAGGAGCTGCT	0.607																																																	0													19	23	21					15																	74623337		1997	4171	6168	SO:0001583	missense	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1561A>G	15.37:g.74623337A>G	ENSP00000381795:p.Lys521Glu		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.K724E	ENST00000398814.3	37	c.2170	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023246	0.75275	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.34859	1.34;1.96;1.54;1.51	4.95	3.75	0.43078	.	0.059114	0.64402	N	0.000005	T	0.58864	0.2152	M	0.81239	2.535	0.43480	D	0.995707	D;D;D;D	0.89917	1.0;1.0;0.997;0.998	D;D;D;D	0.87578	0.997;0.998;0.985;0.994	T	0.63853	-0.6543	10	0.72032	D	0.01	.	10.5096	0.44853	0.8375:0.1625:0.0:0.0	.	114;114;724;521	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	E	724;521;114;114	ENSP00000325012:K724E;ENSP00000381795:K521E;ENSP00000325661:K114E;ENSP00000268082:K114E	ENSP00000268082:K114E	K	+	1	0	CCDC33	72410390	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.840000	0.62817	1.859000	0.53934	0.450000	0.29827	AAG	CCDC33	-	NULL	ENSG00000140481		0.607	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2		0	33	0	A	NM_182791		74623337	1			no_errors	ENST00000321288	ensembl	human	known	74_37	missense	61.54	3	8	SNP	1.000	G	G	74623337	A	G	74623337	3	3	52	1	0	0	0	0	1	0	0	0	2813	247	9	4	1688	4	CCDC33	15	74623337	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2	74623337	27908055	625	12965	52	2									
CSPG4	1464	genome.wustl.edu	37	chr15	75983102	75983103	+	Frame_Shift_Del	DEL	TC	TC	-																															gatggagtcactcagcagcgTctctgctggagtctgcagcc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:75983102_75983103delTC	ENST00000308508.5	-	3	395_396	c.303_304delGA	c.(301-306)gagacgfs	p.ET101fs		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	101	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTCAGCAGCGTCTCTGCTGGAG	0.579																																																	0																																										SO:0001589	frameshift_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.303_304delGA	15.37:g.75983104_75983105delTC	ENSP00000312506:p.Glu101fs		D3DW77|Q92675	Frame_Shift_Del	DEL	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E101fs	ENST00000308508.5	37	c.304_303	CCDS10284.1	15																																																																																			CSPG4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000173546		0.579	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1		0	95	0	TC	NM_001897		75983103	-1	tier1		no_errors	ENST00000308508	ensembl	human	known	74_37	frame_shift_del	21.80	104	29	DEL	0.000:0.000	-	-	75983103	TC	-	75983102	7	5	52	1	0	1	0	1	0	0	0	0	3969	1667	58	0	6696	0	CSPG4	15	75983102	Frame_Shift_Del	DEL	TC	TCGA-L5-A43J-01A-12D-A247-09	1359765	75983102	26548290	626	12966											
C15orf27	123591	genome.wustl.edu	37	chr15	76496546	76496546	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaggagggcttcactgtcTttcagatcaggcctgtcatc	8	11	10	12	0	5	1	4	0	1	1	6	2	5	2	2	3	0	1	2	3	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:76496546T>A	ENST00000388942.3	+	11	1762	c.1486T>A	c.(1486-1488)Ttt>Att	p.F496I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	496					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CTTCACTGTCTTTCAGATCAG	0.587																																																	0													85	90	89					15																	76496546		2197	4294	6491	SO:0001583	missense	0			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.1486T>A	15.37:g.76496546T>A	ENSP00000373594:p.Phe496Ile		Q8N993|Q96LL5	Missense_Mutation	SNP	NULL	p.F496I	ENST00000388942.3	37	c.1486	CCDS10289.2	15	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672571	0.67928	.	.	ENSG00000169758	ENST00000388942	T	0.34275	1.37	4.75	1.09	0.20402	.	0.347066	0.31051	N	0.008352	T	0.30230	0.0758	M	0.64997	1.995	0.34011	D	0.651493	B	0.14438	0.01	B	0.18561	0.022	T	0.20874	-1.0262	10	0.87932	D	0	-21.3182	4.04	0.09746	0.0:0.1922:0.1797:0.6281	.	496	Q2M3C6	CO027_HUMAN	I	496	ENSP00000373594:F496I	ENSP00000373594:F496I	F	+	1	0	C15orf27	74283601	0.968000	0.33430	0.002000	0.10522	0.993000	0.82548	1.760000	0.38430	-0.068000	0.12953	0.455000	0.32223	TTT	C15orf27	-	NULL	ENSG00000169758		0.587	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C15orf27	HGNC	protein_coding	OTTHUMT00000286637.2	-	0	27	0	T	NM_152335		76496546	1	tier1	-	no_errors	ENST00000388942	ensembl	human	known	74_37	missense	70.27	11	26	SNP	0.780	A	A	76496546	T	A	76496546	3	1	52	1	0	0	0	0	1	0	0	0	1793	1609	56	5	1524	5	C15orf27	15	76496546	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	513444	76496546	26034846	627	12967											
KLHL25	64410	genome.wustl.edu	37	chr15	86312008	86312008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggagcccctgccccccGtcacatagaccttgcagccg	6	7	9	19	3	2	1	1	0	1	1	3	2	2	2	7	1	4	1	7	1	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:86312008G>A	ENST00000337975.5	-	2	1308	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.T345M	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	345					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCTGCCCCCCGTCACATAGAC	0.642																																																	0													34	31	32					15																	86312008		2202	4299	6501	SO:0001583	missense	0				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"Kelch-like", "BTB/POZ domain containing"	25732	protein-coding gene	gene with protein product	"ectodermal-neural cortex 2"		"kelch-like 25 (Drosophila)"				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1034C>T	15.37:g.86312008G>A	ENSP00000336800:p.Thr345Met		B2RDH2|B3KRT7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T345M	ENST00000337975.5	37	c.1034	CCDS10339.1	15	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060282	0.55432	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.77620	-1.11;-1.11	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.109380	0.64402	D	0.000010	T	0.81781	0.4895	N	0.25201	0.72	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84484	0.0607	10	0.87932	D	0	.	18.1417	0.89642	0.0:0.0:1.0:0.0	.	345	Q9H0H3	ENC2_HUMAN	M	345;314;345	ENSP00000336800:T345M;ENSP00000444739:T345M	ENSP00000336800:T345M	T	-	2	0	KLHL25	84113012	1.000000	0.71417	0.939000	0.37840	0.387000	0.30353	9.869000	0.99810	2.537000	0.85549	0.462000	0.41574	ACG	KLHL25	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000183655		0.642	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL25	HGNC	protein_coding	OTTHUMT00000309023.1	-	0	50	0	G	NM_022480		86312008	-1	tier1	-	no_errors	ENST00000337975	ensembl	human	known	74_37	missense	78.26	15	54	SNP	1.000	A	A	86312008	G	A	86312008	3	1	52	1	0	0	0	0	1	0	0	0	8407	1145	40	1	739	1	KLHL25	15	86312008	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	9815462	86312008	16219384	628	12968											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92459375	92459375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccgcgcctgatcggctgCggcggcatcgtcatggcgct	3	7	16	15	8	1	1	1	1	0	0	3	1	1	1	2	5	1	3	2	5	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:92459375C>T	ENST00000318445.6	+	2	547	c.333C>T	c.(331-333)tgC>tgT	p.C111C	SLCO3A1_ENST00000424469.2_Silent_p.C111C	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	111					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TGATCGGCTGCGGCGGCATCG	0.692																																																	0													18	16	16					15																	92459375		2118	4124	6242	SO:0001819	synonymous_variant	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.333C>T	15.37:g.92459375C>T			A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.C111	ENST00000318445.6	37	c.333	CCDS10371.1	15																																																																																			SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.692	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0	17	0	C	NM_013272		92459375	1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	silent	29.63	19	8	SNP	0.997	T	T	92459375	C	T	92459375	2	4	52	1	0	0	0	0	0	0	0	1	14773	776	27	1		1	SLCO3A1	15	92459375	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6147367	92459375	10072017	629	12969											
MCTP2	55784	genome.wustl.edu	37	chr15	94858854	94858854	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccggaacctggttgtcCgagatcgctgtggtaagacc	9	8	14	10	3	0	2	0	0	0	2	2	4	1	3	4	4	1	3	4	4	3	2	rs200389318		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:94858854C>T	ENST00000357742.4	+	3	625	c.625C>T	c.(625-627)Cga>Tga	p.R209*	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Nonsense_Mutation_p.R209*|MCTP2_ENST00000451018.3_Nonsense_Mutation_p.R209*	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	209	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCTGGTTGTCCGAGATCGCTG	0.527													C|||	1	0.000199681	0	0	5008	,	,		18109	0		0	False		,,,				2504	0.001																0													167	140	149					15																	94858854		2197	4298	6495	SO:0001587	stop_gained	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.625C>T	15.37:g.94858854C>T	ENSP00000350377:p.Arg209*		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Nonsense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R209*	ENST00000357742.4	37	c.625	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753486	0.89753	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	.	.	.	6.07	4.02	0.46733	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1985	0.48728	0.4629:0.537:0.0:0.0	.	.	.	.	X	209	.	ENSP00000350377:R209X	R	+	1	2	MCTP2	92659858	1.000000	0.71417	0.998000	0.56505	0.343000	0.28985	2.178000	0.42519	1.535000	0.49220	0.655000	0.94253	CGA	MCTP2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000140563		0.527	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	-	0	90	0	C	NM_018349		94858854	1	tier1	rs200389318	no_errors	ENST00000357742	ensembl	human	known	74_37	nonsense	68.48	52	113	SNP	1.000	T	T	94858854	C	T	94858854	4	4	52	1	0	0	0	0	0	1	0	0	9439	644	23	1	635	1	MCTP2	15	94858854	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2399479	94858854	7672538	630	12970											
LRRK1	79705	genome.wustl.edu	37	chr15	101549153	101549153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgccaactgcctggcgAccctcccctcggttatcccc	4	11	7	19	2	1	0	0	0	1	0	4	1	3	0	7	2	3	1	7	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr15:101549153A>G	ENST00000388948.3	+	7	1233	c.874A>G	c.(874-876)Acc>Gcc	p.T292A	LRRK1_ENST00000284395.5_Missense_Mutation_p.T289A	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCCTGGCGACCCTCCCCTC	0.602											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86	89	88					15																	101549153		2037	4181	6218	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.874A>G	15.37:g.101549153A>G	ENSP00000373600:p.Thr292Ala	1359		Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.T292A	ENST00000388948.3	37	c.874	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	A	6.623	0.483380	0.12581	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.24908	1.83;1.83	5.43	4.3	0.51218	.	0.141564	0.48767	D	0.000177	T	0.12008	0.0292	N	0.03608	-0.345	0.27012	N	0.964673	B	0.02656	0.0	B	0.01281	0.0	T	0.15263	-1.0443	10	0.48119	T	0.1	.	10.7849	0.46398	0.1476:0.0:0.0:0.8524	.	292	Q38SD2	LRRK1_HUMAN	A	292;289	ENSP00000373600:T292A;ENSP00000284395:T289A	ENSP00000284395:T289A	T	+	1	0	LRRK1	99366676	0.934000	0.31675	0.317000	0.25265	0.044000	0.14063	1.401000	0.34589	0.878000	0.35920	-0.527000	0.04329	ACC	LRRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000154237		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	24	0	A	NM_024652		101549153	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	74.14	15	43	SNP	0.739	G	G	101549153	A	G	101549153	3	3	52	1	0	0	0	0	1	0	0	0	9067	275	10	4	896	4	LRRK1	15	101549153	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	6690299	101549153	982239	631	12971											
RHBDL1	9028	genome.wustl.edu	37	chr16	727386	727386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggcaggcgtgctggCaggtgaggcaggcgcgcacc	6	5	17	13	3	0	1	0	1	0	0	0	1	0	1	2	6	2	5	2	6	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:727386C>T	ENST00000219551.2	+	4	908	c.881C>T	c.(880-882)gCa>gTa	p.A294V	STUB1_ENST00000219548.4_5'Flank|RHBDL1_ENST00000352681.3_Missense_Mutation_p.A229V|LA16c-313D11.9_ENST00000571933.1_RNA|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000565677.1_5'Flank			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	294					signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GGCGTGCTGGCAGGTGAGGCA	0.692																																																	0													13	11	12					16																	727386		2162	4252	6414	SO:0001583	missense	0			Y17108	CCDS61779.1	16p13.3	2008-02-05	2001-11-28	2003-04-11	ENSG00000103269	ENSG00000103269			10007	protein-coding gene	gene with protein product		603264	"rhomboid (veinlet, Drosophila)-like"	RHBDL		9662444	Standard	NM_001278720		Approved	RRP	uc002cis.1	O75783	OTTHUMG00000121141	ENST00000219551.2:c.881C>T	16.37:g.727386C>T	ENSP00000219551:p.Ala294Val		A2IDC0|A2IDC1|Q0VAX4|Q9NQ85	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	p.A294V	ENST00000219551.2	37	c.881	CCDS10418.1	16	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042707	0.75732	.	.	ENSG00000103269	ENST00000352681;ENST00000450775;ENST00000219551	T;T	0.14766	2.48;2.48	4.03	4.03	0.46877	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	L	0.59967	1.855	0.80722	D	1	D;P;B	0.76494	0.999;0.768;0.207	D;P;B	0.87578	0.998;0.717;0.348	T	0.11817	-1.0572	10	0.87932	D	0	-4.7833	14.7611	0.69607	0.0:1.0:0.0:0.0	.	229;294;229	B4DFK3;O75783;O75783-2	.;RHBL1_HUMAN;.	V	229;229;294	ENSP00000344206:A229V;ENSP00000219551:A294V	ENSP00000219551:A294V	A	+	2	0	RHBDL1	667387	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.130000	0.77235	1.805000	0.52779	0.561000	0.74099	GCA	RHBDL1	-	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	ENSG00000103269		0.692	RHBDL1-001	KNOWN	basic|CCDS	protein_coding	RHBDL1	HGNC	protein_coding	OTTHUMT00000241619.1	-	0	42	0	C	NM_003961		727386	1	tier1	-	no_errors	ENST00000219551	ensembl	human	known	74_37	missense	50.88	26	29	SNP	1.000	T	T	727386	C	T	727386	3	4	52	1	0	0	0	0	1	0	0	0	13366	710	25	3	895	3	RHBDL1	16	727386	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		727386	89627367	632	12972											
JMJD8	339123	genome.wustl.edu	37	chr16	732799	732799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagctgttttggctagcCgaggaaggtggagatgaaga	10	9	16	6	1	0	3	0	1	0	2	0	6	0	4	2	4	3	3	2	4	3	3	rs201419838		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:732799C>T	ENST00000293882.4	-	9	999	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	STUB1_ENST00000219548.4_3'UTR|JMJD8_ENST00000562824.1_Missense_Mutation_p.G234S|JMJD8_ENST00000562111.1_Missense_Mutation_p.G219S|JMJD8_ENST00000412368.2_Missense_Mutation_p.G285S|JMJD8_ENST00000609261.1_Missense_Mutation_p.G264S|JMJD8_ENST00000454700.1_Missense_Mutation_p.G304S			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	334	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.					extracellular vesicular exosome (GO:0070062)				breast(1)	1						TTTGGCTAGCCGAGGAAGGTG	0.592																																																	0								C	SER/GLY	3,4287		0,3,2142	35	42	40		853	0.5	0	16		40	13,8503		0,13,4245	yes	missense	JMJD8	NM_001005920.2	56	0,16,6387	TT,TC,CC		0.1527,0.0699,0.1249	benign	285/286	732799	16,12790	2145	4258	6403	SO:0001583	missense	0				CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 20"	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16		ENST00000293882.4:c.1000G>A	16.37:g.732799C>T	ENSP00000293882:p.Gly334Ser		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Missense_Mutation	SNP	pfam_JmjC_dom,pfscan_JmjC_dom	p.G334S	ENST00000293882.4	37	c.1000		16	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574713	0.65878	6.99E-4	0.001527	ENSG00000161999	ENST00000412368;ENST00000293882;ENST00000454700	.	.	.	4.78	0.455	0.16649	.	0.234850	0.42420	N	0.000708	T	0.38799	0.1054	N	0.19112	0.55	0.47276	D	0.999371	B	0.28880	0.226	B	0.24394	0.053	T	0.13150	-1.0520	9	0.38643	T	0.18	-15.266	13.5042	0.61476	0.0:0.8443:0.0:0.1557	.	304	Q96S16-2	.	S	285;334;304	.	ENSP00000293882:G334S	G	-	1	0	JMJD8	672800	0.862000	0.29867	0.004000	0.12327	0.280000	0.26924	1.849000	0.39318	-0.064000	0.13043	0.655000	0.94253	GGC	JMJD8	-	pfscan_JmjC_dom	ENSG00000161999		0.592	JMJD8-201	KNOWN	basic	protein_coding	JMJD8	HGNC	protein_coding		-	0	45	0	C	NM_001005920		732799	-1	tier1	rs201419838	no_errors	ENST00000293882	ensembl	human	known	74_37	missense	60.78	19	31	SNP	0.869	T	T	732799	C	T	732799	3	4	52	1	0	0	0	0	1	0	0	0	7983	652	23	1	8	1	JMJD8	16	732799	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5413	732799	89621954	633	12973											
CLCN7	1186	genome.wustl.edu	37	chr16	1497455	1497455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccatggtgcactcccgctCgtcctgggacacgtggatgg	5	9	14	13	3	0	0	0	0	0	0	4	2	3	2	3	4	1	2	3	4	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:1497455C>T	ENST00000382745.4	-	23	2793	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	CLCN7_ENST00000262318.8_Missense_Mutation_p.E706K|CCDC154_ENST00000409671.1_5'Flank|CCDC154_ENST00000389176.3_5'Flank|LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000448525.1_Missense_Mutation_p.E706K	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	730					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CACTCCCGCTCGTCCTGGGAC	0.667																																																	0													56	36	43					16																	1497455		2147	4237	6384	SO:0001583	missense	0			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ion channels / Chloride channels : Voltage-sensitive"	2025	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 63"	602727	"chloride channel 7"			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.2188G>A	16.37:g.1497455C>T	ENSP00000372193:p.Glu730Lys		A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7	p.E730K	ENST00000382745.4	37	c.2188	CCDS32361.1	16	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761764	0.89932	.	.	ENSG00000103249	ENST00000448525;ENST00000262318;ENST00000382745;ENST00000428756	D;D	0.88277	-2.36;-2.36	4.91	3.96	0.45880	.	0.045985	0.85682	N	0.000000	D	0.90123	0.6914	L	0.34521	1.04	0.80722	D	1	P;P;D;D	0.89917	0.812;0.807;1.0;1.0	B;B;D;D	0.80764	0.153;0.18;0.994;0.984	D	0.88914	0.3361	10	0.41790	T	0.15	-44.0774	12.1128	0.53848	0.0:0.9147:0.0:0.0853	.	706;706;730;179	A8K7X1;E9PDB9;P51798;B3KUD9	.;.;CLCN7_HUMAN;.	K	706;683;730;672	ENSP00000410907:E706K;ENSP00000372193:E730K	ENSP00000262318:E683K	E	-	1	0	CLCN7	1437456	1.000000	0.71417	0.980000	0.43619	0.820000	0.46376	7.732000	0.84908	1.052000	0.40392	-0.291000	0.09656	GAG	CLCN7	-	NULL	ENSG00000103249		0.667	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN7	HGNC	protein_coding	OTTHUMT00000103598.2	-	0	35	0	C	NM_001287		1497455	-1	tier1	-	no_errors	ENST00000382745	ensembl	human	known	74_37	missense	27.27	56	21	SNP	1.000	T	T	1497455	C	T	1497455	3	4	52	1	0	0	0	0	1	0	0	0	3475	893	31	1	241	1	CLCN7	16	1497455	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	764656	1497455	88857298	634	12974											
TELO2	9894	genome.wustl.edu	37	chr16	1550422	1550422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgccgcagcagcgccaCgtcagcaaggctgtcctcat	7	6	10	18	3	2	0	2	0	0	0	3	0	3	0	5	1	4	4	5	1	1	0	rs375335497		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:1550422C>T	ENST00000262319.6	+	8	1356	c.1077C>T	c.(1075-1077)caC>caT	p.H359H		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	359					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCAGCGCCACGTCAGCAAGG	0.687																																																	0										1,4373		0,1,2186	18	19	19		1077	-2.4	0	16		19	0,8580		0,0,4290	no	coding-synonymous	TELO2	NM_016111.3		0,1,6476	TT,TC,CC		0.0,0.0229,0.0077		359/838	1550422	1,12953	2187	4290	6477	SO:0001819	synonymous_variant	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1077C>T	16.37:g.1550422C>T			D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.H359	ENST00000262319.6	37	c.1077	CCDS32363.1	16																																																																																			TELO2	-	NULL	ENSG00000100726		0.687	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	-	0	22	0	C	NM_016111		1550422	1	tier1	-	no_errors	ENST00000262319	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.042	T	T	1550422	C	T	1550422	2	4	52	1	0	0	0	0	0	0	0	1	15804	535	19	1		1	TELO2	16	1550422	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	52967	1550422	88804331	635	12975											
IFT140	9742	genome.wustl.edu	37	chr16	1634250	1634250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactccactgatgtgcatgtCggtgcgcaggctgtgtgcga	6	10	14	11	3	0	1	0	1	0	0	2	2	1	1	1	2	3	3	1	2	0	0	rs538562131		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:1634250C>T	ENST00000426508.2	-	11	1690	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	443					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATGTGCATGTCGGTGCGCAGG	0.617																																																	0													46	38	41					16																	1634250		2199	4300	6499	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1327G>A	16.37:g.1634250C>T	ENSP00000406012:p.Asp443Asn		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D443N	ENST00000426508.2	37	c.1327	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843969	0.32606	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.61158	0.13	5.51	4.56	0.56223	.	0.099620	0.64402	N	0.000002	T	0.72787	0.3504	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61800	0.747;0.894	T	0.76780	-0.2833	10	0.62326	D	0.03	.	13.5045	0.61477	0.0:0.9248:0.0:0.0752	.	443;168	Q96RY7;B4DR58	IF140_HUMAN;.	N	443	ENSP00000406012:D443N	ENSP00000380562:D443N	D	-	1	0	IFT140	1574251	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	4.559000	0.60796	1.462000	0.47948	0.655000	0.94253	GAC	IFT140	-	NULL	ENSG00000187535		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2		0	18	0	C	NM_014714		1634250	-1			no_errors	ENST00000426508	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.999	T	T	1634250	C	T	1634250	3	4	52	1	0	0	0	0	1	0	0	0	7583	884	31	1	3145	1	IFT140	16	1634250	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	83828	1634250	88720503	636	12976											
TSC2	7249	genome.wustl.edu	37	chr16	2131769	2131769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggcagccagcacggccAaaccccctcctctgcctcgc	6	5	9	21	3	1	0	0	0	1	0	3	0	2	0	7	2	5	2	7	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:2131769A>G	ENST00000219476.3	+	31	4414	c.3784A>G	c.(3784-3786)Aaa>Gaa	p.K1262E	TSC2_ENST00000401874.2_Missense_Mutation_p.K1218E|TSC2_ENST00000382538.6_Missense_Mutation_p.K1170E|TSC2_ENST00000439673.2_Missense_Mutation_p.K1182E|TSC2_ENST00000568454.1_Missense_Mutation_p.K1229E|TSC2_ENST00000353929.4_Missense_Mutation_p.K1219E|TSC2_ENST00000350773.4_Missense_Mutation_p.K1262E	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1262					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGCACGGCCAAACCCCCTCC	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													56	50	52					16																	2131769		2198	4298	6496	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3784A>G	16.37:g.2131769A>G	ENSP00000219476:p.Lys1262Glu		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.K1262E	ENST00000219476.3	37	c.3784	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	A	20.5	4.009396	0.75046	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.89746	-2.45;-2.47;-2.56;-2.53;-2.48	4.49	3.39	0.38822	.	0.493453	0.22524	N	0.058939	D	0.87865	0.6285	N	0.19112	0.55	0.33464	D	0.585305	P;D;D;P;D;D	0.58268	0.949;0.97;0.97;0.767;0.981;0.982	P;P;P;P;P;D	0.67548	0.554;0.74;0.74;0.491;0.845;0.952	D	0.87865	0.2667	10	0.38643	T	0.18	-17.111	9.799	0.40753	0.9178:0.0:0.0822:0.0	.	1170;1182;1262;1218;1218;1262	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	E	1262;1219;1219;1182;1170;1262	ENSP00000219476:K1262E;ENSP00000248099:K1219E;ENSP00000399232:K1182E;ENSP00000371978:K1170E;ENSP00000344383:K1262E	ENSP00000219476:K1262E	K	+	1	0	TSC2	2071770	1.000000	0.71417	0.803000	0.32268	0.050000	0.14768	6.781000	0.75068	0.595000	0.29777	0.459000	0.35465	AAA	TSC2	-	NULL	ENSG00000103197		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	72	0	A	NM_000548		2131769	1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	18.26	94	21	SNP	1.000	G	G	2131769	A	G	2131769	3	3	52	1	0	0	0	0	1	0	0	0	16654	131	5	4	3902	4	TSC2	16	2131769	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	497519	2131769	88222984	637	12977											
SRRM2	23524	genome.wustl.edu	37	chr16	2812095	2812095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaggtctgcacagaggtgGggaagatctagaagccccca	11	6	13	11	0	2	3	0	0	2	3	3	4	3	4	3	4	2	1	3	4	3	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:2812095G>T	ENST00000301740.8	+	11	2115	c.1566G>T	c.(1564-1566)tgG>tgT	p.W522C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	522	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACAGAGGTGGGGAAGATCTA	0.597																																																	0													73	64	67					16																	2812095		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1566G>T	16.37:g.2812095G>T	ENSP00000301740:p.Trp522Cys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.W522C	ENST00000301740.8	37	c.1566	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	8.482	0.859928	0.17178	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.23754	1.89	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000024	T	0.37679	0.1012	N	0.24115	0.695	0.52501	D	0.999952	D	0.76494	0.999	D	0.80764	0.994	T	0.08166	-1.0735	10	0.49607	T	0.09	-12.0999	15.779	0.78246	0.0:0.0:1.0:0.0	.	522	Q9UQ35	SRRM2_HUMAN	C	522;522;487	ENSP00000301740:W522C	ENSP00000301740:W522C	W	+	3	0	SRRM2	2752096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.182000	0.50910	2.801000	0.96364	0.655000	0.94253	TGG	SRRM2	-	NULL	ENSG00000167978		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1		0	25	0	G			2812095	1			no_errors	ENST00000301740	ensembl	human	known	74_37	missense	12.50	27	4	SNP	1.000	T	T	2812095	G	T	2812095	3	4	52	1	0	0	0	0	1	0	0	0	15216	1241	43	3	1604	3	SRRM2	16	2812095	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	680326	2812095	87542658	638	12978											
SEC14L5	9717	genome.wustl.edu	37	chr16	5061151	5061152	+	Frame_Shift_Ins	INS	-	-	C																															ctccagtggcaaatgcacagINScccccccagcagcgtggcct																								rs546621651	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:5061151_5061152insC	ENST00000251170.7	+	15	2036_2037	c.1856_1857insC	c.(1855-1860)agccccfs	p.SP619fs	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	619	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAATGCACAGCCCCCCCAGCA	0.663																																																	0										17,3811		0,17,1897						-0.2	0			25	8,7966		0,8,3979	no	frameshift	SEC14L5	NM_014692.1		0,25,5876	A1A1,A1R,RR		0.1003,0.4441,0.2118				25,11777				SO:0001589	frameshift_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1863dupC	16.37:g.5061158_5061158dupC	ENSP00000251170:p.Ser619fs			Frame_Shift_Ins	INS	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.S622fs	ENST00000251170.7	37	c.1856_1857	CCDS45403.1	16																																																																																			SEC14L5	-	superfamily_GOLD,pfscan_GOLD	ENSG00000103184		0.663	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1		0	48	0	-			5061152	1	tier1		no_errors	ENST00000251170	ensembl	human	known	74_37	frame_shift_ins	25.00	78	26	INS	0.002:0.000	C	C	5061152	-	C	5061151	7	5	52	1	0	1	1	0	0	0	0	0	14030	971	34	0	1910	0	SEC14L5	16	5061151	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	2249056	5061151	85293602	639	12979											
USP7	7874	genome.wustl.edu	37	chr16	8997206	8997206	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtgtatttcactttttcTtcatcgtacatgtcattccc	8	18	4	11	1	4	0	3	0	1	0	6	0	5	0	1	0	1	2	1	0	2	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:8997206T>A	ENST00000344836.4	-	16	1956	c.1758A>T	c.(1756-1758)gaA>gaT	p.E586D	USP7_ENST00000535863.1_Missense_Mutation_p.E487D|USP7_ENST00000381886.4_Missense_Mutation_p.E570D	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	586					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCACTTTTTCTTCATCGTACA	0.443																																																	0													149	123	132					16																	8997206		2197	4300	6497	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1758A>T	16.37:g.8997206T>A	ENSP00000343535:p.Glu586Asp		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.E586D	ENST00000344836.4	37	c.1758	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756059	0.31137	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.06849	3.25;3.25	5.35	0.63	0.17693	.	0.000000	0.85682	D	0.000000	T	0.03695	0.0105	N	0.08118	0	0.58432	D	0.999991	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.48906	-0.8993	10	0.26408	T	0.33	.	7.9375	0.29939	0.0:0.3265:0.0:0.6735	.	586;570	Q93009;B7Z815	UBP7_HUMAN;.	D	586;594;487;487	ENSP00000343535:E586D;ENSP00000443646:E487D	ENSP00000343535:E586D	E	-	3	2	USP7	8904707	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	0.863000	0.27913	-0.155000	0.11098	0.374000	0.22700	GAA	USP7	-	NULL	ENSG00000187555		0.443	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	-	0	23	0	T			8997206	-1	tier1	-	no_errors	ENST00000344836	ensembl	human	known	74_37	missense	33.33	22	11	SNP	1.000	A	A	8997206	T	A	8997206	3	1	52	1	0	0	0	0	1	0	0	0	17137	1606	56	5	1614	5	USP7	16	8997206	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	3936055	8997206	81357547	640	12980											
CLEC16A	23274	genome.wustl.edu	37	chr16	11272324	11272324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtggagacagccagcctgtCccccagcctcgtccctgccc	5	6	10	20	2	0	1	0	0	0	1	3	2	2	1	7	1	4	0	7	1	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:11272324C>T	ENST00000409790.1	+	24	3169	c.2939C>T	c.(2938-2940)tCc>tTc	p.S980F	CLEC16A_ENST00000381822.2_Missense_Mutation_p.S67F	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCAGCCTGTCCCCCAGCCTC	0.627																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											63	78	73					16																	11272324		2159	4247	6406	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2939C>T	16.37:g.11272324C>T	ENSP00000387122:p.Ser980Phe			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.S980F	ENST00000409790.1	37	c.2939	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001978	0.54254	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.52295	0.67	4.49	3.53	0.40419	.	0.131039	0.52532	D	0.000074	T	0.48960	0.1529	N	0.14661	0.345	0.33876	D	0.635509	D;B	0.76494	0.999;0.38	D;B	0.68943	0.961;0.229	T	0.64483	-0.6397	10	0.87932	D	0	-15.1249	12.3965	0.55389	0.0:0.8311:0.1689:0.0	.	67;980	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	F	980;980;67	ENSP00000387122:S980F	ENSP00000371244:S67F	S	+	2	0	CLEC16A	11179825	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.904000	0.56325	1.006000	0.39211	0.655000	0.94253	TCC	CLEC16A	-	NULL	ENSG00000038532		0.627	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0	19	0	C	NM_015226		11272324	1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	20.69	46	12	SNP	1.000	T	T	11272324	C	T	11272324	3	4	52	1	0	0	0	0	1	0	0	0	3507	855	30	3	3029	3	CLEC16A	16	11272324	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2275118	11272324	79082429	641	12981											
MKL2	57496	genome.wustl.edu	37	chr16	14351991	14351991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcagcagatggatgacCtctttgatatcctcattaag	12	12	8	9	0	3	3	2	2	1	1	4	4	4	4	2	1	1	1	2	1	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:14351991C>G	ENST00000341243.5	+	14	2704	c.2704C>G	c.(2704-2706)Ctc>Gtc	p.L902V	MKL2_ENST00000571589.1_Missense_Mutation_p.L913V|MKL2_ENST00000574045.1_Missense_Mutation_p.L863V|MKL2_ENST00000318282.5_Missense_Mutation_p.L863V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	902					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGGATGACCTCTTTGATAT	0.383																																																	0													109	93	98					16																	14351991		2197	4300	6497	SO:0001583	missense	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2704C>G	16.37:g.14351991C>G	ENSP00000345841:p.Leu902Val		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L902V	ENST00000341243.5	37	c.2704		16	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884835	0.72410	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.82770	0.5109	M	0.80616	2.505	0.46298	D	0.998975	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.99	T	0.82731	-0.0312	9	0.44086	T	0.13	-21.3438	18.3838	0.90459	0.0:1.0:0.0:0.0	.	913;863	B4DGT8;Q9ULH7-4	.;.	V	863;902	.	ENSP00000339086:L863V	L	+	1	0	MKL2	14259492	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.488000	0.53229	2.596000	0.87737	0.563000	0.77884	CTC	MKL2	-	NULL	ENSG00000186260		0.383	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		-	0	37	0	C	NM_014048		14351991	1	tier1	-	no_errors	ENST00000341243	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	G	G	14351991	C	G	14351991	3	3	52	1	0	0	0	0	1	0	0	0	9640	681	24	5	2641	5	MKL2	16	14351991	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3079667	14351991	76002762	642	12982											
NTAN1	123803	genome.wustl.edu	37	chr16	15132457	15132457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttgcttgtcatcttggtGcaaccagaaatccacatgtg	10	14	8	9	0	2	1	1	0	1	1	3	1	3	1	2	1	3	2	2	1	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:15132457G>A	ENST00000287706.3	-	9	819	c.727C>T	c.(727-729)Cac>Tac	p.H243Y	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	243					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)			endometrium(1)|large_intestine(4)|lung(3)	8						TCATCTTGGTGCAACCAGAAA	0.418																																																	0													142	129	133					16																	15132457		2197	4300	6497	SO:0001583	missense	0			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.727C>T	16.37:g.15132457G>A	ENSP00000287706:p.His243Tyr		Q7Z4Z0	Missense_Mutation	SNP	NULL	p.H243Y	ENST00000287706.3	37	c.727	CCDS10558.1	16	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857018	0.51376	.	.	ENSG00000157045	ENST00000287706	T	0.29397	1.57	6.17	6.17	0.99709	.	0.390573	0.29579	N	0.011741	T	0.19005	0.0456	N	0.08118	0	0.20873	N	0.999831	B	0.02656	0.0	B	0.04013	0.001	T	0.19289	-1.0310	10	0.59425	D	0.04	-20.5954	14.5801	0.68282	0.0:0.2384:0.7616:0.0	.	243	Q96AB6	NTAN1_HUMAN	Y	243	ENSP00000287706:H243Y	ENSP00000287706:H243Y	H	-	1	0	NTAN1	15039958	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.554000	0.36266	2.941000	0.99782	0.655000	0.94253	CAC	NTAN1	-	NULL	ENSG00000157045		0.418	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTAN1	HGNC	protein_coding	OTTHUMT00000252089.1	-	0	56	0	G	NM_173474		15132457	-1	tier1	-	no_errors	ENST00000287706	ensembl	human	known	74_37	missense	27.27	56	21	SNP	1.000	A	A	15132457	G	A	15132457	3	1	52	1	0	0	0	0	1	0	0	0	10734	1319	46	3	213	3	NTAN1	16	15132457	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	780466	15132457	75222296	643	12983											
UMOD	7369	genome.wustl.edu	37	chr16	20352508	20352508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaaatcgggacaggtcGcccccatccaacatggtgcc	10	6	11	14	2	0	0	0	0	0	0	3	1	1	1	4	3	3	1	4	3	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:20352508G>A	ENST00000570689.1	-	7	1628	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	UMOD_ENST00000396142.2_Silent_p.G494G|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Silent_p.G494G|UMOD_ENST00000424589.1_Silent_p.G527G|UMOD_ENST00000396134.2_Silent_p.G527G|UMOD_ENST00000396138.4_Silent_p.G543G			P07911	UROM_HUMAN	uromodulin	494	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGACAGGTCGCCCCCATCCA	0.572																																																	0													109	85	93					16																	20352508		2203	4300	6503	SO:0001819	synonymous_variant	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1482C>T	16.37:g.20352508G>A			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.G527	ENST00000570689.1	37	c.1581	CCDS10583.1	16																																																																																			UMOD	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000169344		0.572	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0	34	0	G			20352508	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	silent	48.61	37	35	SNP	0.002	A	A	20352508	G	A	20352508	2	1	52	1	0	0	0	0	0	0	0	1	17028	1074	38	1		1	UMOD	16	20352508	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	5220051	20352508	70002245	644	12984											
ACSM2A	123876	genome.wustl.edu	37	chr16	20491948	20491948	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacttttggctccttggAgaccggggaatcaaagatga	11	9	14	7	1	1	4	1	1	0	3	2	7	2	5	2	5	0	1	2	5	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:20491948A>C	ENST00000573854.1	+	11	1449	c.1335A>C	c.(1333-1335)ggA>ggC	p.G445G	ACSM2A_ENST00000396104.2_Silent_p.G445G|ACSM2A_ENST00000417235.2_Silent_p.G366G|ACSM2A_ENST00000219054.6_Silent_p.G445G|ACSM2A_ENST00000575690.1_Silent_p.G445G|ACSM2A_ENST00000536134.1_Silent_p.G217G|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	445					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTCCTTGGAGACCGGGGAA	0.488																																																	0													76	66	70					16																	20491948		2202	4295	6497	SO:0001819	synonymous_variant	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1335A>C	16.37:g.20491948A>C			B3KTT9|O75202	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.G445	ENST00000573854.1	37	c.1335	CCDS32401.1	16																																																																																			ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.488	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	-	0	57	0	A	NM_001010845		20491948	1	tier1	-	no_errors	ENST00000219054	ensembl	human	known	74_37	silent	62.92	33	56	SNP	0.999	C	C	20491948	A	C	20491948	2	2	52	1	0	0	0	0	0	0	0	1	183	291	11	4		4	ACSM2A	16	20491948	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	139440	20491948	69862805	645	12985											
ERN2	10595	genome.wustl.edu	37	chr16	23718096	23718096	+	Frame_Shift_Del	DEL	G	G	-																															tgttcggccaatgtagaggcGgggggtggagggaccctctg																								rs143761786		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:23718096delG	ENST00000457008.2	-	6	504	c.466delC	c.(466-468)cgcfs	p.R156fs	ERN2_ENST00000256797.4_Frame_Shift_Del_p.R204fs					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		ATGTAGAGGCGGGGGGTGGAG	0.607																																																	0													54	55	55					16																	23718096		2195	4300	6495	SO:0001589	frameshift_variant	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.466delC	16.37:g.23718096delG	ENSP00000413812:p.Arg156fs			Frame_Shift_Del	DEL	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.R204fs	ENST00000457008.2	37	c.610		16																																																																																			ERN2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat	ENSG00000134398		0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1		0	24	0	G			23718096	-1	tier1		no_errors	ENST00000256797	ensembl	human	known	74_37	frame_shift_del	20.90	53	14	DEL	0.894	-	-	23718096	G	-	23718096	7	5	52	1	0	1	0	1	0	0	0	0	5254	1116	39	0	2382	0	ERN2	16	23718096	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	3226148	23718096	66636657	646	12986											
CACNG3	10368	genome.wustl.edu	37	chr16	24372735	24372735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccggagaccccgggcagCgtgactccaaaaaaagttac	13	4	11	13	4	0	2	0	1	0	1	1	3	1	2	4	2	2	2	4	2	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:24372735C>T	ENST00000005284.3	+	4	1701	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	167					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCCGGGCAGCGTGACTCCAA	0.443																																																	0													118	130	126					16																	24372735		2197	4300	6497	SO:0001583	missense	0			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"Calcium channel subunits"	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.499C>T	16.37:g.24372735C>T	ENSP00000005284:p.Arg167Cys			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	p.R167C	ENST00000005284.3	37	c.499	CCDS10620.1	16	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404663	0.42613	.	.	ENSG00000006116	ENST00000005284	D	0.89343	-2.5	4.96	2.77	0.32553	.	0.044035	0.85682	D	0.000000	D	0.90431	0.7004	M	0.83953	2.67	0.46678	D	0.99915	P	0.46912	0.886	P	0.48030	0.564	D	0.90129	0.4205	10	0.59425	D	0.04	-7.0825	10.5357	0.45002	0.6161:0.3838:0.0:0.0	.	167	O60359	CCG3_HUMAN	C	167	ENSP00000005284:R167C	ENSP00000005284:R167C	R	+	1	0	CACNG3	24280236	1.000000	0.71417	0.533000	0.28001	0.378000	0.30076	5.414000	0.66405	1.003000	0.39130	0.655000	0.94253	CGT	CACNG3	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000006116		0.443	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	HGNC	protein_coding	OTTHUMT00000254548.1	-	0	37	0	C	NM_006539		24372735	1	tier1	-	no_errors	ENST00000005284	ensembl	human	known	74_37	missense	65.38	18	34	SNP	0.996	T	T	24372735	C	T	24372735	3	4	52	1	0	0	0	0	1	0	0	0	2565	768	27	1	513	1	CACNG3	16	24372735	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	654639	24372735	65982018	647	12987											
GTF3C1	2975	genome.wustl.edu	37	chr16	27475971	27475972	+	Frame_Shift_Ins	INS	-	-	G																															gaaggaggtgcctgcccctcINSgggggggctgtcctcactgg																								rs200275527	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:27475971_27475972insG	ENST00000356183.4	-	34	5556_5557	c.5541_5542insC	c.(5539-5544)cccgagfs	p.E1848fs	GTF3C1_ENST00000561623.1_Frame_Shift_Ins_p.E1848fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1848					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGCCCCTCGGGGGGGCTGT	0.673																																																	0																																										SO:0001589	frameshift_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5542dupC	16.37:g.27475978_27475978dupG	ENSP00000348510:p.Glu1848fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Ins	INS	pfam_TFIIIC_Bblock-bd	p.E1847fs	ENST00000356183.4	37	c.5542_5541	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.673	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1		0	33	0	-	NM_001520		27475972	-1	tier1		no_errors	ENST00000356183	ensembl	human	known	74_37	frame_shift_ins	22.06	53	15	INS	0.012:0.000	G	G	27475972	-	G	27475971	7	5	52	1	0	1	1	0	0	0	0	0	6899	893	31	0	803	0	GTF3C1	16	27475971	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	3103236	27475971	62878782	648	12988											
GTF3C1	2975	genome.wustl.edu	37	chr16	27506096	27506096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaataccttgtagctgacTtgcacaatctggatgaagat	13	11	8	9	0	1	3	0	2	1	1	1	4	1	4	2	1	3	3	2	1	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:27506096T>A	ENST00000356183.4	-	16	2781	c.2766A>T	c.(2764-2766)caA>caT	p.Q922H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Q922H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	922					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTAGCTGACTTGCACAATCT	0.567																																																	0													78	65	70					16																	27506096		2197	4300	6497	SO:0001583	missense	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2766A>T	16.37:g.27506096T>A	ENSP00000348510:p.Gln922His		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.Q922H	ENST00000356183.4	37	c.2766	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879777	0.72294	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.25250	1.81	5.78	4.69	0.59074	.	0.339399	0.31821	N	0.007003	T	0.49201	0.1543	M	0.76574	2.34	0.40074	D	0.976057	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51371	-0.8714	10	0.56958	D	0.05	-20.3314	11.2322	0.48918	0.0:0.0717:0.0:0.9283	.	922;922	Q12789;Q12789-3	TF3C1_HUMAN;.	H	922;920	ENSP00000348510:Q922H	ENSP00000348510:Q922H	Q	-	3	2	GTF3C1	27413597	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.338000	0.43957	1.025000	0.39708	0.460000	0.39030	CAA	GTF3C1	-	NULL	ENSG00000077235		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	-	0	26	0	T	NM_001520		27506096	-1	tier1	-	no_errors	ENST00000356183	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	A	A	27506096	T	A	27506096	3	1	52	1	0	0	0	0	1	0	0	0	6899	1606	56	5	3651	5	GTF3C1	16	27506096	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	30125	27506096	62848657	649	12989											
APOB48R	55911	genome.wustl.edu	37	chr16	28507452	28507452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaggggaggaggccGggacagcctcaggaggggac	9	2	20	10	1	2	0	2	0	0	0	2	6	2	6	3	9	1	0	3	9	0	0	rs370148393		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:28507452G>A	ENST00000431282.1	+	3	1073	c.1063G>A	c.(1063-1065)Ggg>Agg	p.G355R	APOBR_ENST00000564831.1_Missense_Mutation_p.G364R|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G355R|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	355	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGAGGAGGCCGGGACAGCCTC	0.672																																																	0								G	ARG/GLY	0,3888		0,0,1944	14	17	16		1063	-2.5	0	16		16	1,8193		0,1,4096	no	missense	APOBR	NM_018690.3	125	0,1,6040	AA,AG,GG		0.0122,0.0,0.0083	benign	355/1089	28507452	1,12081	1944	4097	6041	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1063G>A	16.37:g.28507452G>A	ENSP00000416094:p.Gly355Arg		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.G364R	ENST00000431282.1	37	c.1090		16	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080787	0.36758	0.0	1.22E-4	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.59772	0.24;0.24	3.86	-2.49	0.06403	.	.	.	.	.	T	0.33702	0.0872	N	0.19112	0.55	0.09310	N	1	B	0.23891	0.093	B	0.10450	0.005	T	0.10941	-1.0608	9	0.38643	T	0.18	.	3.7884	0.08710	0.5999:0.0:0.2159:0.1841	.	355	Q9NS13	.	R	355	ENSP00000327669:G355R;ENSP00000416094:G355R	ENSP00000327669:G355R	G	+	1	0	APOBR	28414953	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.825000	0.04433	-0.783000	0.04534	-0.487000	0.04747	GGG	APOBR	-	NULL	ENSG00000184730		0.672	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		-	0	33	0	G	NM_182804		28507452	1	tier1	-	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	14.29	38	7	SNP	0.000	A	A	28507452	G	A	28507452	3	1	52	1	0	0	0	0	1	0	0	0	786	1116	39	1	1073	1	APOB48R	16	28507452	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1001356	28507452	61847301	650	12990											
NFATC2IP	84901	genome.wustl.edu	37	chr16	28967541	28967541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctcagggtcaagagcaAcagggccaagaggatgaagt	14	4	13	10	0	2	3	2	1	0	2	2	4	2	4	3	3	2	1	3	3	4	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:28967541A>T	ENST00000320805.4	+	5	804	c.729A>T	c.(727-729)caA>caT	p.Q243H	RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000568148.1_5'Flank|MIR4517_ENST00000578855.1_RNA|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	243					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GTCAAGAGCAACAGGGCCAAG	0.602																																																	0													65	57	60					16																	28967541		2197	4300	6497	SO:0001583	missense	0			AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.729A>T	16.37:g.28967541A>T	ENSP00000324792:p.Gln243His		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.Q243H	ENST00000320805.4	37	c.729	CCDS10645.1	16	.	.	.	.	.	.	.	.	.	.	A	0.144	-1.098674	0.01843	.	.	ENSG00000176953	ENST00000320805	T	0.17054	2.3	5.07	-5.83	0.02325	.	1.053130	0.07529	N	0.911840	T	0.03520	0.0101	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39502	-0.9611	10	0.13108	T	0.6	1.2638	1.7254	0.02921	0.1309:0.1807:0.2399:0.4485	.	243	Q8NCF5	NF2IP_HUMAN	H	243	ENSP00000324792:Q243H	ENSP00000324792:Q243H	Q	+	3	2	NFATC2IP	28875042	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.530000	0.02221	-0.663000	0.05331	-2.373000	0.00235	CAA	NFATC2IP	-	NULL	ENSG00000176953		0.602	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC2IP	HGNC	protein_coding	OTTHUMT00000214999.2	-	0	30	0	A	NM_032815		28967541	1	tier1	-	no_errors	ENST00000320805	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.000	T	T	28967541	A	T	28967541	3	4	52	1	0	0	0	0	1	0	0	0	10402	40	2	5	747	5	NFATC2IP	16	28967541	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	460089	28967541	61387212	651	12991											
KCTD13	253980	genome.wustl.edu	37	chr16	29918228	29918228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttgttggccatgaggacGctcgtcgtgggtgatatggc	7	12	15	7	3	0	2	0	2	0	0	2	3	0	3	1	4	0	2	1	4	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:29918228G>A	ENST00000568000.1	-	6	1956	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	319					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CCATGAGGACGCTCGTCGTGG	0.617																																																	0													110	100	103					16																	29918228		2197	4300	6497	SO:0001583	missense	0			AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"polymerase delta-interacting protein 1", "TNFAIP1-like"	608947	"potassium channel tetramerisation domain containing 13"			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.955C>T	16.37:g.29918228G>A	ENSP00000455785:p.Arg319Cys		A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R319C	ENST00000568000.1	37	c.955	CCDS10661.1	16	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893866	0.72639	.	.	ENSG00000174943	ENST00000308768	T	0.61040	0.14	5.2	4.23	0.50019	.	0.129717	0.35739	N	0.003013	T	0.71290	0.3322	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74520	-0.3638	10	0.87932	D	0	-12.0901	14.6298	0.68647	0.0:0.1471:0.8529:0.0	.	319	Q8WZ19	BACD1_HUMAN	C	319	ENSP00000311202:R319C	ENSP00000311202:R319C	R	-	1	0	KCTD13	29825729	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	5.328000	0.65887	1.157000	0.42530	0.467000	0.42956	CGT	KCTD13	-	NULL	ENSG00000174943		0.617	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	KCTD13	HGNC	protein_coding	OTTHUMT00000255162.2	-	0	25	0	G	NM_178863		29918228	-1	tier1	-	no_errors	ENST00000308768	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	A	A	29918228	G	A	29918228	3	1	52	1	0	0	0	0	1	0	0	0	8127	1087	38	1	38	1	KCTD13	16	29918228	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	950687	29918228	60436525	652	12992											
CORO1A	11151	genome.wustl.edu	37	chr16	30198370	30198370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcaggttgtgacaaCgtgatcatggtgtgggacgt	9	10	16	6	3	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30198370C>T	ENST00000219150.5	+	5	767	c.462C>T	c.(460-462)aaC>aaT	p.N154N	RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000565497.1_Silent_p.N154N|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000570045.1_Silent_p.N154N	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	154					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GTTGTGACAACGTGATCATGG	0.637																																																	0													117	92	101					16																	30198370		2197	4300	6497	SO:0001819	synonymous_variant	0			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"Coronins", "WD repeat domain containing"	2252	protein-coding gene	gene with protein product	"Clabp TACO"	605000	"coronin, actin-binding protein, 1A"			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.462C>T	16.37:g.30198370C>T			B2RBL1|Q2YD73	Silent	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N154	ENST00000219150.5	37	c.462	CCDS10673.1	16																																																																																			CORO1A	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000102879		0.637	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1A	HGNC	protein_coding	OTTHUMT00000255195.2	-	0	59	0	C	NM_007074		30198370	1	tier1	-	no_errors	ENST00000219150	ensembl	human	known	74_37	silent	47.67	45	41	SNP	0.980	T	T	30198370	C	T	30198370	2	4	52	1	0	0	0	0	0	0	0	1	3760	535	19	1		1	CORO1A	16	30198370	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	280142	30198370	60156383	653	12993											
FBRS	64319	genome.wustl.edu	37	chr16	30680549	30680549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgctgctgccgccgcCgctgccgccgccgcagcagc	2	4	14	21	7	0	0	0	0	0	0	0	0	0	0	7	0	6	6	7	0	0	0	rs563758362	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30680549C>T	ENST00000287468.5	+	12	1229	c.966C>T	c.(964-966)gcC>gcT	p.A322A	FBRS_ENST00000395073.2_Silent_p.A234A|FBRS_ENST00000356166.6_Silent_p.A842A|FBRS_ENST00000568722.1_Silent_p.A234A	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	322	Ala-rich.									ovary(1)	1			Colorectal(24;0.103)			ctgccgccgccgctgccgccg	0.716													C|||	2	0.000399361	0	0	5008	,	,		7726	0		0.002	False		,,,				2504	0																0																																										SO:0001819	synonymous_variant	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.966C>T	16.37:g.30680549C>T			B4DP86|Q96CI9|Q9H9X4	Silent	SNP	prints_AUTS2	p.A842	ENST00000287468.5	37	c.2526		16																																																																																			FBRS	-	NULL	ENSG00000156860		0.716	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		-	0	8	0	C	NM_022452		30680549	1	tier1	-	no_errors	ENST00000356166	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.000	T	T	30680549	C	T	30680549	2	4	52	1	0	0	0	0	0	0	0	1	5729	639	23	1		1	FBRS	16	30680549	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	482179	30680549	59674204	654	12994											
ZNF629	23361	genome.wustl.edu	37	chr16	30794962	30794962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtagggcttctctccCgtgtgcgtgcgctggtgctg	2	13	14	12	3	1	0	0	0	1	0	3	0	2	0	1	2	3	4	1	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30794962C>T	ENST00000262525.4	-	3	894	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GCTTCTCTCCCGTGTGCGTGC	0.627																																																	0													70	74	73					16																	30794962		2197	4300	6497	SO:0001819	synonymous_variant	0			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"Zinc fingers, C2H2-type"	29008	protein-coding gene	gene with protein product			"zinc finger protein 65"	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.687G>A	16.37:g.30794962C>T			Q15938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T229	ENST00000262525.4	37	c.687	CCDS45463.1	16																																																																																			ZNF629	-	pfscan_Znf_C2H2	ENSG00000102870		0.627	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	-	0	56	0	C	NM_015309		30794962	-1	tier1	-	no_errors	ENST00000262525	ensembl	human	known	74_37	silent	32.35	69	33	SNP	0.999	T	T	30794962	C	T	30794962	2	4	52	1	0	0	0	0	0	0	0	1	18101	639	23	1		1	ZNF629	16	30794962	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	114413	30794962	59559791	655	12995											
SETD1A	9739	genome.wustl.edu	37	chr16	30990868	30990868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacagaggtggacctggCggtcctggccgacctggccc	6	5	17	13	2	0	1	0	0	0	1	1	4	1	3	5	7	0	0	5	7	0	0	rs368108050		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:30990868C>T	ENST00000262519.8	+	14	4447	c.3761C>T	c.(3760-3762)gCg>gTg	p.A1254V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1254					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GTGGACCTGGCGGTCCTGGCC	0.721																																																	0								C	VAL/ALA	0,4342		0,0,2171	11	16	15		3761	5	0.9	16		15	2,8492		0,2,4245	no	missense	SETD1A	NM_014712.1	64	0,2,6416	TT,TC,CC		0.0235,0.0,0.0156	benign	1254/1708	30990868	2,12834	2171	4247	6418	SO:0001583	missense	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3761C>T	16.37:g.30990868C>T	ENSP00000262519:p.Ala1254Val		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.A1254V	ENST00000262519.8	37	c.3761	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136690	0.37728	0.0	2.35E-4	ENSG00000099381	ENST00000262519	D	0.94897	-3.55	4.96	4.96	0.65561	.	0.278989	0.32819	N	0.005610	D	0.88691	0.6505	N	0.24115	0.695	0.30520	N	0.768475	B	0.32781	0.384	B	0.22152	0.038	D	0.85194	0.1011	10	0.29301	T	0.29	.	16.9682	0.86291	0.0:1.0:0.0:0.0	.	1254	O15047	SET1A_HUMAN	V	1254	ENSP00000262519:A1254V	ENSP00000262519:A1254V	A	+	2	0	SETD1A	30898369	0.970000	0.33590	0.933000	0.37362	0.941000	0.58515	2.084000	0.41625	2.292000	0.77174	0.563000	0.77884	GCG	SETD1A	-	NULL	ENSG00000099381		0.721	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	-	0	9	0	C	NM_014712		30990868	1	tier1	-	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	75.00	2	6	SNP	0.926	T	T	30990868	C	T	30990868	3	4	52	1	0	0	0	0	1	0	0	0	14175	768	27	1	3811	1	SETD1A	16	30990868	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	195906	30990868	59363885	656	12996											
PRSS36	146547	genome.wustl.edu	37	chr16	31150582	31150582	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgtggggagccactGgggggcaggaagttggcctc	6	6	20	9	0	0	0	0	0	0	0	1	2	0	2	3	8	1	2	3	8	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:31150582G>T	ENST00000268281.4	-	15	2503	c.2445C>A	c.(2443-2445)ccC>ccA	p.P815P	PRSS36_ENST00000569305.1_Silent_p.P810P|PRSS36_ENST00000418068.2_Silent_p.P712P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	815						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGAGCCACTGGGGGGCAGGA	0.637																																																	0													34	36	35					16																	31150582		2197	4300	6497	SO:0001819	synonymous_variant	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2445C>A	16.37:g.31150582G>T			A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.P815	ENST00000268281.4	37	c.2445	CCDS32436.1	16																																																																																			PRSS36	-	pirsf_Pept_S1A_polyserase-2	ENSG00000178226		0.637	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	-	0	20	0	G	NM_173502		31150582	-1	tier1	-	no_errors	ENST00000268281	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.000	T	T	31150582	G	T	31150582	2	4	52	1	0	0	0	0	0	0	0	1	12667	1335	47	3		3	PRSS36	16	31150582	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	159714	31150582	59204171	657	12997											
PRSS36	146547	genome.wustl.edu	37	chr16	31151942	31151942	+	Frame_Shift_Del	DEL	G	G	-																															gctcagctccaggagggccaGggggggcctgagtcccaggt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:31151942delG	ENST00000268281.4	-	13	2096	c.2038delC	c.(2038-2040)ctgfs	p.L680fs	PRSS36_ENST00000569305.1_Frame_Shift_Del_p.L675fs|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	680	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						AGGAGGGCCAGGGGGGGCCTG	0.726																																																	0													15	20	19					16																	31151942		2194	4288	6482	SO:0001589	frameshift_variant	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2038delC	16.37:g.31151942delG	ENSP00000268281:p.Leu680fs		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Frame_Shift_Del	DEL	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.L680fs	ENST00000268281.4	37	c.2038	CCDS32436.1	16																																																																																			PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.726	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1		0	16	0	G	NM_173502		31151942	-1	tier1		no_errors	ENST00000268281	ensembl	human	known	74_37	frame_shift_del	20.83	19	5	DEL	0.448	-	-	31151942	G	-	31151942	7	5	52	1	0	1	0	1	0	0	0	0	12667	991	35	0	541	0	PRSS36	16	31151942	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	1360	31151942	59202811	658	12998											
ITGAM	3684	genome.wustl.edu	37	chr16	31336608	31336608	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactgcctcgtggtgggtggGccccgggagttcaacgtgac	5	8	17	11	3	1	1	1	1	0	0	2	3	1	2	3	4	2	1	3	4	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:31336608G>T	ENST00000287497.8	+	20	2463	c.2388G>T	c.(2386-2388)ggG>ggT	p.G796G	ITGAM_ENST00000544665.3_Silent_p.G797G			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	796					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGTGGGTGGGCCCCGGGAGT	0.607																																																	0													56	59	58					16																	31336608		2052	4204	6256	SO:0001819	synonymous_variant	0			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2388G>T	16.37:g.31336608G>T			Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G797	ENST00000287497.8	37	c.2391	CCDS45470.1	16																																																																																			ITGAM	-	pfam_Integrin_alpha-2	ENSG00000169896		0.607	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1		0	45	0	G	NM_000632		31336608	1			no_errors	ENST00000544665	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.000	T	T	31336608	G	T	31336608	2	4	52	1	0	0	0	0	0	0	0	1	7914	1190	42	3		3	ITGAM	16	31336608	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	184666	31336608	59018145	659	12999											
ABCC11	85320	genome.wustl.edu	37	chr16	48218359	48218359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccccctcacctgcagcaCgatgttgacagccatgactt	9	9	7	16	1	2	2	2	2	0	0	2	3	2	2	4	0	3	3	4	0	0	2	rs553813897	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:48218359C>T	ENST00000394747.1	-	22	3599	c.3250G>A	c.(3250-3252)Gtg>Atg	p.V1084M	ABCC11_ENST00000394748.1_Missense_Mutation_p.V1084M|ABCC11_ENST00000356608.2_Missense_Mutation_p.V1084M|ABCC11_ENST00000353782.5_Missense_Mutation_p.V1084M|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1084	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	ACCTGCAGCACGATGTTGACA	0.562													C|||	2	0.000399361	0	0	5008	,	,		19334	0.002		0	False		,,,				2504	0																0													86	83	84					16																	48218359		2201	4300	6501	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3250G>A	16.37:g.48218359C>T	ENSP00000378230:p.Val1084Met		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V1084M	ENST00000394747.1	37	c.3250	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948878	0.18356	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.07	2.94	0.34122	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, transmembrane domain (1);	0.587434	0.17043	N	0.189251	D	0.85111	0.5622	L	0.59436	1.845	0.24767	N	0.992899	D;P	0.54397	0.966;0.651	B;B	0.41813	0.367;0.227	T	0.77099	-0.2713	10	0.72032	D	0.01	-11.0941	7.8373	0.29378	0.0:0.8424:0.0:0.1576	.	1084;1084	Q96J66-2;Q96J66	.;ABCCB_HUMAN	M	1084	ENSP00000311326:V1084M;ENSP00000349017:V1084M;ENSP00000378231:V1084M;ENSP00000378230:V1084M	ENSP00000311326:V1084M	V	-	1	0	ABCC11	46775860	0.001000	0.12720	0.012000	0.15200	0.018000	0.09664	0.243000	0.18106	0.405000	0.25532	0.563000	0.77884	GTG	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom	ENSG00000121270		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0	35	0	C	NM_032583		48218359	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	21.82	43	12	SNP	0.074	T	T	48218359	C	T	48218359	3	4	52	1	0	0	0	0	1	0	0	0	51	536	19	1	930	1	ABCC11	16	48218359	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	16881751	48218359	42136394	660	13000											
LONP2	83752	genome.wustl.edu	37	chr16	48295365	48295365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgccctattaggagaattAcacatatctcaggtacttta	13	13	6	9	1	1	1	1	0	1	1	2	2	1	1	1	2	3	1	1	2	8	8			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:48295365A>G	ENST00000285737.4	+	5	847	c.754A>G	c.(754-756)Aca>Gca	p.T252A	LONP2_ENST00000535754.1_Missense_Mutation_p.T208A	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TAGGAGAATTACACATATCTC	0.348																																																	0													148	148	148					16																	48295365		2200	4299	6499	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.754A>G	16.37:g.48295365A>G	ENSP00000285737:p.Thr252Ala			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.T252A	ENST00000285737.4	37	c.754	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	A	6.033	0.374540	0.11409	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T	0.28666	1.6;1.6	5.88	-0.465	0.12157	.	0.743961	0.13586	N	0.376996	T	0.17789	0.0427	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17048	-1.0382	10	0.66056	D	0.02	-2.2568	6.0933	0.20007	0.4399:0.2388:0.3213:0.0	.	208;252	B7ZKL7;Q86WA8	.;LONP2_HUMAN	A	252;208;208	ENSP00000285737:T252A;ENSP00000445426:T208A	ENSP00000285737:T252A	T	+	1	0	LONP2	46852866	0.081000	0.21417	0.029000	0.17559	0.856000	0.48823	1.073000	0.30691	-0.377000	0.07930	0.482000	0.46254	ACA	LONP2	-	tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.348	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0	38	0	A	NM_031490		48295365	1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	43.75	36	28	SNP	0.003	G	G	48295365	A	G	48295365	3	3	52	1	0	0	0	0	1	0	0	0	8928	391	14	4	772	4	LONP2	16	48295365	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	77006	48295365	42059388	661	13001											
SNX20	124460	genome.wustl.edu	37	chr16	50707525	50707525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggccctctctccggccGcgaaggcctcggcggggcgg	3	4	18	16	6	1	0	0	0	1	0	4	1	2	0	4	7	0	1	4	7	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:50707525G>A	ENST00000330943.4	-	4	914	c.743C>T	c.(742-744)gCg>gTg	p.A248V	RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	248					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTCTCCGGCCGCGAAGGCCTC	0.756																																																	0													7	8	8					16																	50707525		1994	3929	5923	SO:0001583	missense	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.743C>T	16.37:g.50707525G>A	ENSP00000332062:p.Ala248Val		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.A248V	ENST00000330943.4	37	c.743	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663764	0.47572	.	.	ENSG00000167208	ENST00000330943	T	0.65732	-0.17	5.78	4.74	0.60224	.	0.310539	0.34067	N	0.004299	T	0.55847	0.1946	M	0.64997	1.995	0.35085	D	0.763779	D	0.56035	0.974	B	0.38194	0.267	T	0.71020	-0.4713	10	0.45353	T	0.12	-27.2913	13.2905	0.60269	0.0:0.0:0.7804:0.2196	.	248	Q7Z614	SNX20_HUMAN	V	248	ENSP00000332062:A248V	ENSP00000332062:A248V	A	-	2	0	SNX20	49265026	0.996000	0.38824	0.618000	0.29105	0.008000	0.06430	2.485000	0.45250	2.733000	0.93635	0.561000	0.74099	GCG	SNX20	-	NULL	ENSG00000167208		0.756	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	-	0	18	0	G	NM_153337		50707525	-1	tier1	-	no_errors	ENST00000330943	ensembl	human	known	74_37	missense	46.94	26	23	SNP	0.493	A	A	50707525	G	A	50707525	3	1	52	1	0	0	0	0	1	0	0	0	14937	1087	38	1	354	1	SNX20	16	50707525	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2412160	50707525	39647228	662	13002											
NOD2	64127	genome.wustl.edu	37	chr16	50745137	50745137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcctcaggaagtacatcCgcaccgagttcaacctcaag	11	8	8	14	3	3	0	3	0	0	0	5	2	5	1	4	1	2	4	4	1	4	3	rs375201229		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:50745137C>T	ENST00000300589.2	+	4	1420	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAGTACATCCGCACCGAGTT	0.622																																																	0								C	CYS/ARG	0,4396		0,0,2198	54	58	56		1315	3.2	0	16		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOD2	NM_022162.1	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	439/1041	50745137	1,12995	2198	4300	6498	SO:0001583	missense	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1315C>T	16.37:g.50745137C>T	ENSP00000300589:p.Arg439Cys		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.R439C	ENST00000300589.2	37	c.1315	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644800	0.14451	0.0	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79033	-1.23	5.26	3.25	0.37280	.	0.304254	0.28871	N	0.013868	T	0.72867	0.3514	M	0.65975	2.015	0.39682	D	0.97091	B;B;B	0.21606	0.05;0.058;0.046	B;B;B	0.21151	0.02;0.033;0.027	T	0.68880	-0.5292	10	0.54805	T	0.06	.	8.3773	0.32451	0.0:0.792:0.0:0.208	.	223;412;439	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	C	412;439	ENSP00000300589:R439C	ENSP00000300589:R439C	R	+	1	0	NOD2	49302638	0.028000	0.19301	0.001000	0.08648	0.212000	0.24457	0.734000	0.26101	0.562000	0.29204	0.561000	0.74099	CGC	NOD2	-	superfamily_P-loop_NTPase	ENSG00000167207		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	0	17	0	C	NM_022162		50745137	1	tier1	-	no_errors	ENST00000300589	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.493	T	T	50745137	C	T	50745137	3	4	52	1	0	0	0	0	1	0	0	0	10556	652	23	1	1329	1	NOD2	16	50745137	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	37612	50745137	39609616	663	13003											
NLRC5	84166	genome.wustl.edu	37	chr16	57113482	57113482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttcctgtaagattgacaaCcagactgccaagctcctcac	11	10	7	13	0	1	3	1	1	0	2	3	3	3	3	4	0	3	3	4	0	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:57113482C>T	ENST00000262510.6	+	46	5487	c.5262C>T	c.(5260-5262)aaC>aaT	p.N1754N	NLRC5_ENST00000539144.1_Silent_p.N1725N|NLRC5_ENST00000308149.7_Silent_p.N1725N|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1754					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGATTGACAACCAGACTGCCA	0.562																																																	0													134	115	122					16																	57113482		2198	4300	6498	SO:0001819	synonymous_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5262C>T	16.37:g.57113482C>T			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.N1754	ENST00000262510.6	37	c.5262	CCDS10773.1	16																																																																																			NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000140853		0.562	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0	23	0	C	NM_032206		57113482	1			no_errors	ENST00000262510	ensembl	human	known	74_37	silent	10.45	60	7	SNP	0.997	T	T	57113482	C	T	57113482	2	4	52	1	0	0	0	0	0	0	0	1	10509	506	18	3		3	NLRC5	16	57113482	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6368345	57113482	33241271	664	13004											
CNGB1	1258	genome.wustl.edu	37	chr16	57918169	57918169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcctcaccgagtgctcttCgggctcggccggcccctcct	3	9	11	18	4	2	0	1	0	1	0	6	2	4	0	6	3	1	2	6	3	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:57918169C>T	ENST00000251102.8	-	33	3715	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	CNGB1_ENST00000564448.1_Missense_Mutation_p.E1213K	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1219					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAGTGCTCTTCGGGCTCGGCC	0.716																																					Colon(156;1293 1853 16336 28962 38659)												0													24	28	27					16																	57918169		1878	4062	5940	SO:0001583	missense	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3655G>A	16.37:g.57918169C>T	ENSP00000251102:p.Glu1219Lys		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E1219K	ENST00000251102.8	37	c.3655	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881804	0.51908	.	.	ENSG00000070729	ENST00000251102	D	0.96459	-4.02	4.83	-2.3	0.06785	.	1.353330	0.05018	N	0.472216	D	0.88614	0.6484	N	0.16478	0.41	0.09310	N	0.999999	B;B	0.19935	0.04;0.024	B;B	0.12837	0.008;0.006	T	0.80694	-0.1268	10	0.10377	T	0.69	.	2.5888	0.04837	0.2646:0.3598:0.2773:0.0982	.	591;1219	Q14028-2;Q14028	.;CNGB1_HUMAN	K	1219	ENSP00000251102:E1219K	ENSP00000251102:E1219K	E	-	1	0	CNGB1	56475670	0.000000	0.05858	0.036000	0.18154	0.288000	0.27193	-1.077000	0.03416	-0.214000	0.10078	0.655000	0.94253	GAA	CNGB1	-	NULL	ENSG00000070729		0.716	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	-	0	17	0	C	NM_001297		57918169	-1	tier1	-	no_errors	ENST00000251102	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.001	T	T	57918169	C	T	57918169	3	4	52	1	0	0	0	0	1	0	0	0	3607	893	31	1	104	1	CNGB1	16	57918169	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	804687	57918169	32436584	665	13005											
CNOT1	23019	genome.wustl.edu	37	chr16	58577327	58577327	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atataacagaaaaaaaaaaaAacacacagacatgatgcttt	24	7	4	6	0	0	3	0	1	0	2	0	3	0	3	0	0	3	1	0	0	8	3	rs556592424		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:58577327A>C	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1540V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aaaaaaaaaaaacacacagac	0.299													A|||	1	0.000199681	0	0	5008	,	,		18548	0		0.001	False		,,,				2504	0																0													20	20	20					16																	58577327		1013	2122	3135	SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+183T>G	16.37:g.58577327A>C			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F1540V	ENST00000317147.5	37	c.4618	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	4.645	0.119968	0.08881	.	.	ENSG00000125107	ENST00000441024	T	0.44482	0.92	1.6	-3.2	0.05156	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	8	0.87932	D	0	.	5.872	0.18809	0.2548:0.5872:0.158:0.0	.	1540	A5YKK6-4	.	V	1540	ENSP00000413113:F1540V	ENSP00000413113:F1540V	F	-	1	0	CNOT1	57134828	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.507000	0.22675	-2.105000	0.00842	-1.344000	0.01245	TTT	CNOT1	-	NULL	ENSG00000125107		0.299	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	31	0	A	NM_016284		58577327	-1	tier1	-	no_errors	ENST00000441024	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.000	C	C	58577327	A	C	58577327	1	2	52	0	1	0	0	0	0	0	0	0	3624	14	1	4		4	CNOT1	16	58577327	Intron	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	659158	58577327	31777426	666	13006											
CDH11	1009	genome.wustl.edu	37	chr16	64984778	64984778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcagtgccccgttcacgtCgcacccgcagactttgatgg	7	8	12	14	4	1	2	1	1	0	1	2	3	1	2	3	1	2	4	3	1	0	2	rs374274441		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:64984778C>T	ENST00000268603.4	-	12	2401	c.1786G>A	c.(1786-1788)Gac>Aac	p.D596N	CDH11_ENST00000394156.3_Missense_Mutation_p.D596N|CDH11_ENST00000566827.1_Missense_Mutation_p.D470N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	596	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCGTTCACGTCGCACCCGCAG	0.607			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													114	88	97					16																	64984778		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1786G>A	16.37:g.64984778C>T	ENSP00000268603:p.Asp596Asn		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D596N	ENST00000268603.4	37	c.1786	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375782	0.82682	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.57595	0.39;0.5	5.81	5.81	0.92471	Cadherin (2);	0.128642	0.64402	D	0.000001	T	0.32763	0.0840	N	0.16903	0.455	0.58432	D	0.999999	P;B	0.37061	0.58;0.004	B;B	0.26094	0.066;0.002	T	0.26326	-1.0106	10	0.51188	T	0.08	.	12.3875	0.55340	0.0:0.9239:0.0:0.0761	.	596;596	P55287-2;P55287	.;CAD11_HUMAN	N	596;596;579	ENSP00000268603:D596N;ENSP00000377711:D596N	ENSP00000268603:D596N	D	-	1	0	CDH11	63542279	1.000000	0.71417	0.959000	0.39883	0.995000	0.86356	4.931000	0.63469	2.746000	0.94184	0.655000	0.94253	GAC	CDH11	-	smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.607	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	25	0	C	NM_033664		64984778	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	27.52	79	30	SNP	1.000	T	T	64984778	C	T	64984778	3	4	52	1	0	0	0	0	1	0	0	0	3104	884	31	1	612	1	CDH11	16	64984778	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6407451	64984778	25369975	667	13007											
CDH11	1009	genome.wustl.edu	37	chr16	64984913	64984913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccgggcgtacacgcctgCtgtgttatctgcagaaagag	9	8	13	11	4	1	2	0	0	1	2	1	2	1	2	2	1	3	4	2	1	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:64984913C>T	ENST00000268603.4	-	12	2266	c.1651G>A	c.(1651-1653)Gca>Aca	p.A551T	CDH11_ENST00000394156.3_Missense_Mutation_p.A551T|CDH11_ENST00000566827.1_Missense_Mutation_p.A425T	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	551	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TACACGCCTGCTGTGTTATCT	0.587			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													43	43	43					16																	64984913		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1651G>A	16.37:g.64984913C>T	ENSP00000268603:p.Ala551Thr		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A551T	ENST00000268603.4	37	c.1651	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344466	0.82022	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.55760	2.44;0.5	5.55	5.55	0.83447	Cadherin (3);Cadherin-like (1);	0.099517	0.64402	D	0.000001	T	0.81202	0.4773	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;0.975	D;P	0.87578	0.998;0.77	D	0.86348	0.1709	10	0.87932	D	0	.	18.497	0.90869	0.0:1.0:0.0:0.0	.	551;551	P55287-2;P55287	.;CAD11_HUMAN	T	551;551;534	ENSP00000268603:A551T;ENSP00000377711:A551T	ENSP00000268603:A551T	A	-	1	0	CDH11	63542414	1.000000	0.71417	0.140000	0.22221	0.011000	0.07611	7.727000	0.84838	2.594000	0.87642	0.655000	0.94253	GCA	CDH11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.587	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	27	0	C	NM_033664		64984913	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	14.67	64	11	SNP	1.000	T	T	64984913	C	T	64984913	3	4	52	1	0	0	0	0	1	0	0	0	3104	797	28	3	747	3	CDH11	16	64984913	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	135	64984913	25369840	668	13008											
PLEKHG4	25894	genome.wustl.edu	37	chr16	67320198	67320198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcagtttgggatgtacGcgctctacagcaagaataag	11	9	14	7	2	1	1	0	0	1	1	1	2	1	2	0	2	4	5	0	2	5	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:67320198G>A	ENST00000360461.5	+	14	4999	c.2464G>A	c.(2464-2466)Gcg>Acg	p.A822T	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A822T|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A822T|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A741T	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	822	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGATGTACGCGCTCTACAG	0.557																																																	0													158	119	132					16																	67320198		2198	4300	6498	SO:0001583	missense	0			AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24501	protein-coding gene	gene with protein product	"puratrophin-1"	609526	"spinocerebellar ataxia 4"	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2464G>A	16.37:g.67320198G>A	ENSP00000353646:p.Ala822Thr		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A822T	ENST00000360461.5	37	c.2464	CCDS32466.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.224595	0.95139	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.44	5.44	0.79542	Dbl homology (DH) domain (5);	0.000000	0.33199	N	0.005163	T	0.75376	0.3841	L	0.57130	1.785	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.75548	-0.3279	10	0.51188	T	0.08	.	14.6269	0.68626	0.0:0.1568:0.8432:0.0	.	741;822	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	T	822;822;822;741	ENSP00000353646:A822T;ENSP00000401118:A822T;ENSP00000368649:A822T;ENSP00000398030:A741T	ENSP00000353646:A822T	A	+	1	0	PLEKHG4	65877699	1.000000	0.71417	0.756000	0.31282	0.953000	0.61014	6.746000	0.74866	2.576000	0.86940	0.561000	0.74099	GCG	PLEKHG4	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000196155		0.557	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4	HGNC	protein_coding	OTTHUMT00000421395.2	-	0	70	0	G	NM_015432		67320198	1	tier1	-	no_errors	ENST00000360461	ensembl	human	known	74_37	missense	57.23	74	99	SNP	0.997	A	A	67320198	G	A	67320198	3	1	52	1	0	0	0	0	1	0	0	0	12110	1087	38	1	2518	1	PLEKHG4	16	67320198	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2335285	67320198	23034555	669	13009											
EDC4	23644	genome.wustl.edu	37	chr16	67916729	67916729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtggccggcagtgttcGtgctgaggtgcagcaccagc	6	7	15	13	3	0	1	0	1	0	0	1	1	0	1	3	3	4	5	3	3	0	1	rs543342658		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:67916729G>A	ENST00000358933.5	+	26	3829	c.3590G>A	c.(3589-3591)cGt>cAt	p.R1197H	CTC-479C5.10_ENST00000572067.1_lincRNA|NRN1L_ENST00000339176.3_5'Flank|NRN1L_ENST00000576147.1_5'Flank	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	1197					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCAGTGTTCGTGCTGAGGTG	0.652											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55	52	53					16																	67916729		2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.3590G>A	16.37:g.67916729G>A	ENSP00000351811:p.Arg1197His	1103	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1197H	ENST00000358933.5	37	c.3590	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144427	0.57044	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.74	5.74	0.90152	.	0.105601	0.64402	D	0.000003	T	0.44993	0.1320	L	0.31926	0.97	0.40470	D	0.980332	B	0.19073	0.033	B	0.08055	0.003	T	0.35051	-0.9804	9	0.33141	T	0.24	-29.4967	11.2818	0.49199	0.1146:0.0:0.8854:0.0	.	1197	Q6P2E9	EDC4_HUMAN	H	1197	.	ENSP00000351811:R1197H	R	+	2	0	EDC4	66474230	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.480000	0.81109	2.722000	0.93159	0.591000	0.81541	CGT	EDC4	-	NULL	ENSG00000038358		0.652	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	-	0	43	0	G	NM_014329		67916729	1	tier1	-	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	9.72	130	14	SNP	1.000	A	A	67916729	G	A	67916729	3	1	52	1	0	0	0	0	1	0	0	0	4922	1145	40	1	3692	1	EDC4	16	67916729	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	596531	67916729	22438024	670	13010											
DDX28	55794	genome.wustl.edu	37	chr16	68056444	68056444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaagggttgggccacaGcccgcacctgttgggccaat	7	6	14	14	1	0	0	0	0	0	0	0	0	0	0	5	4	1	3	5	4	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:68056444G>T	ENST00000332395.5	-	1	1326	c.662C>A	c.(661-663)gCt>gAt	p.A221D	DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	221	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTGGGCCACAGCCCGCACCTG	0.672																																																	0													26	32	30					16																	68056444		2198	4297	6495	SO:0001583	missense	0			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.662C>A	16.37:g.68056444G>T	ENSP00000332340:p.Ala221Asp			Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A221D	ENST00000332395.5	37	c.662	CCDS10858.1	16	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155162	0.21371	.	.	ENSG00000182810	ENST00000332395	T	0.14640	2.49	5.52	3.52	0.40303	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.342931	0.30428	N	0.009649	T	0.06508	0.0167	N	0.04669	-0.19	0.09310	N	1	B	0.29766	0.256	B	0.34301	0.179	T	0.29088	-1.0023	10	0.42905	T	0.14	-1.1569	6.2304	0.20732	0.0735:0.1339:0.6539:0.1387	.	221	Q9NUL7	DDX28_HUMAN	D	221	ENSP00000332340:A221D	ENSP00000332340:A221D	A	-	2	0	DDX28	66613945	0.176000	0.23096	0.005000	0.12908	0.174000	0.22865	2.612000	0.46343	0.671000	0.31185	0.561000	0.74099	GCT	DDX28	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000182810		0.672	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	-	0	41	0	G	NM_018380		68056444	-1	tier1	-	no_errors	ENST00000332395	ensembl	human	known	74_37	missense	60.75	41	65	SNP	0.022	T	T	68056444	G	T	68056444	3	4	52	1	0	0	0	0	1	0	0	0	4364	971	34	3	964	3	DDX28	16	68056444	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	139715	68056444	22298309	671	13011											
DUS2L	54920	genome.wustl.edu	37	chr16	68088489	68088489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcccaggggacttcagacGcagagcgagcccttgctgtg	7	8	14	12	2	1	2	1	0	0	2	2	4	2	3	2	2	3	3	2	2	0	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:68088489G>A	ENST00000565263.1	+	6	771	c.277G>A	c.(277-279)Gca>Aca	p.A93T	DUS2_ENST00000432752.1_Intron|AC130462.1_ENST00000408862.1_RNA|DUS2_ENST00000358896.6_Missense_Mutation_p.A93T	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	93					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										GACTTCAGACGCAGAGCGAGC	0.527																																																	0													243	194	211					16																	68088489		2198	4300	6498	SO:0001583	missense	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.277G>A	16.37:g.68088489G>A	ENSP00000455229:p.Ala93Thr		A8K3G3|Q4H4D9	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	p.A93T	ENST00000565263.1	37	c.277	CCDS10859.1	16	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547420	0.45383	.	.	ENSG00000167264	ENST00000358896	T	0.31247	1.5	5.72	4.76	0.60689	Aldolase-type TIM barrel (1);	0.067164	0.64402	D	0.000013	T	0.46014	0.1371	M	0.66439	2.03	0.80722	D	1	P	0.52463	0.953	P	0.53649	0.731	T	0.49293	-0.8955	10	0.66056	D	0.02	-37.4225	14.0972	0.65029	0.0:0.1506:0.8494:0.0	.	93	Q9NX74	DUS2L_HUMAN	T	93	ENSP00000351769:A93T	ENSP00000351769:A93T	A	+	1	0	DUS2L	66645990	1.000000	0.71417	0.986000	0.45419	0.949000	0.60115	5.508000	0.67006	1.409000	0.46915	0.650000	0.86243	GCA	DUS2	-	pfam_tRNA_hU_synthase	ENSG00000167264		0.527	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2	HGNC	protein_coding	OTTHUMT00000268869.2	-	0	95	0	G	NM_017803		68088489	1	tier1	-	no_errors	ENST00000358896	ensembl	human	known	74_37	missense	12.50	217	31	SNP	0.999	A	A	68088489	G	A	68088489	3	1	52	1	0	0	0	0	1	0	0	0	4820	1087	38	1	291	1	DUS2L	16	68088489	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	32045	68088489	22266264	672	13012											
ESRP2	80004	genome.wustl.edu	37	chr16	68264764	68264764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtagtaggctgtgtaGttcaggtagagttgagtggc	7	13	17	4	0	1	2	1	1	0	1	1	2	1	2	0	4	0	7	0	4	4	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:68264764G>T	ENST00000565858.1	-	13	1994	c.1908C>A	c.(1906-1908)aaC>aaA	p.N636K	RP11-96D1.11_ENST00000571197.1_RNA|ESRP2_ENST00000473183.2_Missense_Mutation_p.N626K	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	636					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						AGGCTGTGTAGTTCAGGTAGA	0.572																																																	0													199	203	202					16																	68264764		2198	4300	6498	SO:0001583	missense	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1908C>A	16.37:g.68264764G>T	ENSP00000454554:p.Asn636Lys		Q8N6H8|Q8WZ15|Q9H6I4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.N636K	ENST00000565858.1	37	c.1908		16	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338419	0.81911	.	.	ENSG00000103067	ENST00000473183	T	0.10573	2.86	5.94	5.94	0.96194	.	0.138096	0.64402	D	0.000003	T	0.28764	0.0713	M	0.63843	1.955	0.80722	D	1	D;D	0.69078	0.997;0.969	P;P	0.62649	0.905;0.845	T	0.01018	-1.1479	10	0.15952	T	0.53	-24.1516	20.3594	0.98849	0.0:0.0:1.0:0.0	.	636;626	Q9H6T0;Q9H6T0-2	ESRP2_HUMAN;.	K	626	ENSP00000418748:N626K	ENSP00000418748:N626K	N	-	3	2	ESRP2	66822265	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.143000	0.50608	2.816000	0.96949	0.563000	0.77884	AAC	ESRP2	-	NULL	ENSG00000103067		0.572	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1	-	0	91	0	G	NM_024939		68264764	-1	tier1	-	no_errors	ENST00000565858	ensembl	human	known	74_37	missense	7.22	167	13	SNP	1.000	T	T	68264764	G	T	68264764	3	4	52	1	0	0	0	0	1	0	0	0	5275	1020	36	3	287	3	ESRP2	16	68264764	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	176275	68264764	22089989	673	13013											
WWP2	11060	genome.wustl.edu	37	chr16	69820935	69820935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatctgccagctctagcCgggcaggagtggccctgcct	5	8	14	14	1	2	0	0	0	2	0	2	1	2	1	4	4	4	3	4	4	1	1	rs142617495		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:69820935C>T	ENST00000359154.2	+	2	123	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	WWP2_ENST00000569174.1_Missense_Mutation_p.R8W|SNORA62_ENST00000516634.1_RNA|WWP2_ENST00000448661.1_Missense_Mutation_p.R8W|WWP2_ENST00000356003.2_Missense_Mutation_p.R8W	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	8					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCTCTAGCCGGGCAGGAGT	0.463																																																	0								C	TRP/ARG,TRP/ARG	0,4396		0,0,2198	117	102	107		22,22	4.2	1	16	dbSNP_134	107	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	WWP2	NM_007014.3,NM_199423.1	101,101	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	8/871,8/336	69820935	3,12993	2198	4300	6498	SO:0001583	missense	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.22C>T	16.37:g.69820935C>T	ENSP00000352069:p.Arg8Trp		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.R8W	ENST00000359154.2	37	c.22	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977251	0.74360	0.0	3.49E-4	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003	T;T;T	0.36520	1.25;1.25;1.25	5.29	4.25	0.50352	.	0.284721	0.33457	N	0.004890	T	0.31231	0.0790	L	0.51422	1.61	0.80722	D	1	D	0.60575	0.988	B	0.41299	0.353	T	0.08046	-1.0741	9	.	.	.	.	12.0388	0.53442	0.2179:0.7821:0.0:0.0	.	8	O00308	WWP2_HUMAN	W	8	ENSP00000352069:R8W;ENSP00000396871:R8W;ENSP00000348283:R8W	.	R	+	1	2	WWP2	68378436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.042000	0.41222	2.477000	0.83638	0.563000	0.77884	CGG	WWP2	-	NULL	ENSG00000198373		0.463	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	-	0	25	0	C	NM_007014		69820935	1	tier1	rs142617495	no_errors	ENST00000356003	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	T	T	69820935	C	T	69820935	3	4	52	1	0	0	0	0	1	0	0	0	17465	643	23	1	24	1	WWP2	16	69820935	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1556171	69820935	20533818	674	13014											
DDX19B	11269	genome.wustl.edu	37	chr16	70351424	70351425	+	Frame_Shift_Del	DEL	TA	TA	-																															cacagcttctccaaggagtcTatgccatgggtttcaatcgt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:70351424_70351425delTA	ENST00000288071.6	+	5	567_568	c.322_323delTA	c.(322-324)tatfs	p.Y108fs	DDX19B_ENST00000451014.3_Intron|DDX19B_ENST00000355992.3_Intron|DDX19B_ENST00000393657.2_5'UTR|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_5'UTR|DDX19B_ENST00000563392.1_5'UTR|DDX19B_ENST00000563206.1_Frame_Shift_Del_p.Y113fs|RP11-529K1.3_ENST00000567706.1_Frame_Shift_Del_p.Y108fs|DDX19B_ENST00000570055.1_3'UTR	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	108	N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				CCAAGGAGTCTATGCCATGGGT	0.416																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0																																										SO:0001589	frameshift_variant	0			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"DEAD-boxes"	2742	protein-coding gene	gene with protein product		605812	"DEAD (Asp-Glu-Ala-As) box polypeptide 19", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.322_323delTA	16.37:g.70351424_70351425delTA	ENSP00000288071:p.Tyr108fs		B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y108fs	ENST00000288071.6	37	c.322_323	CCDS10888.1	16																																																																																			DDX19B	-	pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000157349		0.416	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3		0	45	0	TA	NM_007242		70351425	1	tier1		no_errors	ENST00000288071	ensembl	human	known	74_37	frame_shift_del	35.71	63	35	DEL	1.000:1.000	-	-	70351425	TA	-	70351424	7	5	52	1	0	1	0	1	0	0	0	0	4356	1522	53	0	340	0	DDX19B	16	70351424	Frame_Shift_Del	DEL	TA	TCGA-L5-A43J-01A-12D-A247-09	530489	70351424	20003329	675	13015											
SF3B3	23450	genome.wustl.edu	37	chr16	70590170	70590170	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtaccccctggagagcAgcggtctcgcttcctggctg	6	9	12	14	2	1	1	0	0	1	1	3	2	2	1	3	3	3	4	3	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:70590170A>T	ENST00000302516.5	+	14	2010	c.1799A>T	c.(1798-1800)cAg>cTg	p.Q600L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	600					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCTGGAGAGCAGCGGTCTCGC	0.537																																																	0													239	195	210					16																	70590170		2198	4300	6498	SO:0001583	missense	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1799A>T	16.37:g.70590170A>T	ENSP00000305790:p.Gln600Leu		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.Q600L	ENST00000302516.5	37	c.1799	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	A	12.27	1.887927	0.33348	.	.	ENSG00000189091	ENST00000302516	T	0.30981	1.51	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.23492	0.0568	L	0.28014	0.82	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03818	-1.1001	10	0.25106	T	0.35	.	15.5219	0.75871	1.0:0.0:0.0:0.0	.	600	Q15393	SF3B3_HUMAN	L	600	ENSP00000305790:Q600L	ENSP00000305790:Q600L	Q	+	2	0	SF3B3	69147671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.082000	0.62665	0.533000	0.62120	CAG	SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	-	0	51	0	A	NM_012426		70590170	1	tier1	-	no_errors	ENST00000302516	ensembl	human	known	74_37	missense	46.46	53	46	SNP	1.000	T	T	70590170	A	T	70590170	3	4	52	1	0	0	0	0	1	0	0	0	14197	188	7	5	1849	5	SF3B3	16	70590170	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	238746	70590170	19764583	676	13016											
IL34	146433	genome.wustl.edu	37	chr16	70690943	70690943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgagtcggtgcaggaCgtgctgctcgagggccaccc	6	6	15	14	3	0	1	0	1	0	0	2	3	0	2	3	3	3	3	3	3	0	0	rs368553371	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:70690943C>T	ENST00000288098.2	+	4	704	c.321C>T	c.(319-321)gaC>gaT	p.D107D	IL34_ENST00000566361.1_Silent_p.D82D|IL34_ENST00000429149.2_Silent_p.D107D	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	107					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CGGTGCAGGACGTGCTGCTCG	0.627													C|||	2	0.000399361	0	0	5008	,	,		20315	0		0	False		,,,				2504	0.002																0								C	,,	1,4395	2.1+/-5.4	0,1,2197	124	104	111		318,321,321	-10.4	0.2	16		111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,	106/242,107/243,107/243	70690943	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"Interleukins and interleukin receptors"	28529	protein-coding gene	gene with protein product		612081	"chromosome 16 open reading frame 77"	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.321C>T	16.37:g.70690943C>T			B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Silent	SNP	prints_IL-34	p.D107	ENST00000288098.2	37	c.321	CCDS10895.1	16																																																																																			IL34	-	prints_IL-34	ENSG00000157368		0.627	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL34	HGNC	protein_coding	OTTHUMT00000268971.3	-	0	34	0	C	NM_152456		70690943	1	tier1	-	no_errors	ENST00000288098	ensembl	human	known	74_37	silent	33.33	44	22	SNP	0.103	T	T	70690943	C	T	70690943	2	4	52	1	0	0	0	0	0	0	0	1	7721	535	19	1		1	IL34	16	70690943	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	100773	70690943	19663810	677	13017											
ZFHX3	463	genome.wustl.edu	37	chr16	72845811	72845811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcctcacctgctccGgtttgatctcctcagctgtt	4	14	7	16	1	3	1	2	1	1	0	6	1	5	1	5	1	3	4	5	1	0	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:72845811G>A	ENST00000268489.5	-	6	4328	c.3656C>T	c.(3655-3657)cCg>cTg	p.P1219L	RP5-991G20.2_ENST00000558618.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.P305L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1219					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CACCTGCTCCGGTTTGATCTC	0.552																																																	0													188	198	194					16																	72845811		2198	4300	6498	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3656C>T	16.37:g.72845811G>A	ENSP00000268489:p.Pro1219Leu		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P1219L	ENST00000268489.5	37	c.3656	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436829	0.25900	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.60797	0.16;0.16	5.86	5.86	0.93980	.	0.144228	0.31989	N	0.006755	T	0.47414	0.1444	L	0.35854	1.095	0.20196	N	0.999925	B	0.14012	0.009	B	0.08055	0.003	T	0.23726	-1.0180	10	0.25751	T	0.34	.	14.3687	0.66823	0.0714:0.0:0.9286:0.0	.	1219	Q15911	ZFHX3_HUMAN	L	1219;305	ENSP00000268489:P1219L;ENSP00000438926:P305L	ENSP00000268489:P1219L	P	-	2	0	ZFHX3	71403312	0.944000	0.32072	0.035000	0.18076	0.830000	0.47004	5.220000	0.65267	2.937000	0.99478	0.650000	0.86243	CCG	ZFHX3	-	NULL	ENSG00000140836		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	31	0	G	NM_006885		72845811	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	45.00	22	18	SNP	0.048	A	A	72845811	G	A	72845811	3	1	52	1	0	0	0	0	1	0	0	0	17682	1116	39	1	7475	1	ZFHX3	16	72845811	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2154868	72845811	17508942	678	13018											
GLG1	2734	genome.wustl.edu	37	chr16	74526855	74526855	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaatatgaatgctacCtctgtgtacagctgactcca	16	10	6	9	0	1	2	0	2	1	0	2	2	2	2	2	0	4	3	2	0	8	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:74526855C>G	ENST00000422840.2	-	7	1233	c.1234G>C	c.(1234-1236)Ggg>Cgg	p.G412R	GLG1_ENST00000205061.5_Splice_Site_p.G412R|GLG1_ENST00000447066.2_Splice_Site_p.G401R	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	412					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGAATGCTACCTCTGTGTACA	0.388																																																	0													58	52	54					16																	74526855		2198	4300	6498	SO:0001630	splice_region_variant	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1234+1G>C	16.37:g.74526855C>G			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.G412R	ENST00000422840.2	37	c.1234	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	C	30	5.053171	0.93793	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.73962	2.25	0.80722	D	1	P;P;D	0.89917	0.93;0.61;1.0	P;B;D	0.87578	0.585;0.323;0.998	T	0.78583	-0.2148	8	.	.	.	-4.4433	20.0442	0.97604	0.0:1.0:0.0:0.0	.	412;412;401	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	R	412;401;412	.	.	G	-	1	0	GLG1	73084356	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.610000	0.82949	2.814000	0.96858	0.655000	0.94253	GGG	GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.388	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0	30	0	C	NM_012201	Missense_Mutation	74526855	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	G	G	74526855	C	G	74526855	5	3	52	1	0	0	0	0	0	0	1	0	6462	695	24	5	2465	5	GLG1	16	74526855	Splice_Site	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1681044	74526855	15827898	679	13019											
LDHD	84937	genome.wustl.edu	37	chr16	75147877	75147877	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcaccaatgcgggctacGggcactgcagcctggaggat	9	6	14	12	2	1	0	1	0	0	0	1	2	1	2	2	4	5	4	2	4	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:75147877G>A	ENST00000335325.4	+	0	4620				LDHD_ENST00000450168.2_Silent_p.P272P|LDHD_ENST00000300051.4_Silent_p.P295P	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TGCGGGCTACGGGCACTGCAG	0.672																																																	0													32	35	34					16																	75147877		2196	4300	6496	SO:0001628	intergenic_variant	0			AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"RING-type (C3HC4) zinc fingers"	18452	protein-coding gene	gene with protein product		612060	"zinc and ring finger 1"				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606		16.37:g.75147877G>A			D3DUJ9|Q9H083	Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.P295	ENST00000335325.4	37	c.885	CCDS10912.1	16																																																																																			LDHD	-	pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C	ENSG00000166816		0.672	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000269020.2	-	0	23	0	G			75147877	-1	tier1	-	no_errors	ENST00000300051	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.198	A	A	75147877	G	A	75147877	1	1	52	0	1	0	0	0	0	0	0	0	8731	1103	39	1		1	LDHD	16	75147877	IGR	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	621022	75147877	15206876	680	13020											
ZFP1	162239	genome.wustl.edu	37	chr16	75203737	75203737	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacctttcgagtgtccGgaatgtggaaaagctttcac	12	10	11	8	2	1	1	1	0	0	1	3	5	2	3	2	2	2	1	2	2	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:75203737G>A	ENST00000393430.2	+	4	853	c.729G>A	c.(727-729)ccG>ccA	p.P243P	ZFP1_ENST00000568079.1_3'UTR|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000332307.4_Silent_p.P210P|ZFP1_ENST00000570010.1_Silent_p.P243P			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						TCGAGTGTCCGGAATGTGGAA	0.443																																					NSCLC(187;1429 2122 10143 20357 42217)												0													55	56	55					16																	75203737		2197	4299	6496	SO:0001819	synonymous_variant	0			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"Zinc fingers, C2H2-type", "-"	23328	protein-coding gene	gene with protein product			"zinc finger protein 1 homolog (mouse)", "zinc finger protein 1"			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.729G>A	16.37:g.75203737G>A			A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P243	ENST00000393430.2	37	c.729	CCDS10914.2	16																																																																																			ZFP1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184517		0.443	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP1	HGNC	protein_coding	OTTHUMT00000269013.2	-	0	36	0	G	NM_153688		75203737	1	tier1	-	no_errors	ENST00000393430	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.022	A	A	75203737	G	A	75203737	2	1	52	1	0	0	0	0	0	0	0	1	17684	1103	39	1		1	ZFP1	16	75203737	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	55860	75203737	15151016	681	13021											
BCMO1	53630	genome.wustl.edu	37	chr16	81304016	81304016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgccgtgcccctccacgtgGacaaggtaatggcttccaag	8	9	11	13	2	0	0	0	0	0	0	2	1	2	1	5	3	2	2	5	3	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:81304016G>A	ENST00000258168.2	+	7	1557	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	BCMO1_ENST00000425577.2_Missense_Mutation_p.D297N	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						CCTCCACGTGGACAAGGTAAT	0.532																																																	0													72	71	71					16																	81304016		2202	4300	6502	SO:0001583	missense	0																														ENST00000258168.2:c.1096G>A	16.37:g.81304016G>A	ENSP00000258168:p.Asp366Asn			Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.D366N	ENST00000258168.2	37	c.1096	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461551	0.43736	.	.	ENSG00000135697	ENST00000258168;ENST00000425577	D;D	0.95035	-3.59;-3.59	5.28	4.31	0.51392	.	0.197708	0.52532	D	0.000073	D	0.92283	0.7552	L	0.57130	1.785	0.42692	D	0.993587	B;B	0.33807	0.426;0.183	B;B	0.32677	0.15;0.055	D	0.90255	0.4296	10	0.27785	T	0.31	-24.071	15.9274	0.79628	0.0:0.1355:0.8645:0.0	.	297;366	E7EM88;Q9HAY6	.;BCDO1_HUMAN	N	366;297	ENSP00000258168:D366N;ENSP00000400586:D297N	ENSP00000258168:D366N	D	+	1	0	BCMO1	79861517	1.000000	0.71417	0.855000	0.33649	0.469000	0.32828	3.537000	0.53590	1.199000	0.43173	0.650000	0.86243	GAC	BCMO1	-	pfam_Carotenoid_Oase	ENSG00000135697		0.532	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	HGNC	protein_coding	OTTHUMT00000269056.1	-	0	17	0	G			81304016	1	tier1	-	no_errors	ENST00000258168	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.994	A	A	81304016	G	A	81304016	3	1	52	1	0	0	0	0	1	0	0	0	1385	1174	41	3	1122	3	BCMO1	16	81304016	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6100279	81304016	9050737	682	13022											
GAN	8139	genome.wustl.edu	37	chr16	81410849	81410849	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctatcttaacgaccagaatTtatgcatccccgccagttcc	10	12	5	14	2	2	1	0	0	2	1	4	2	4	1	5	0	2	2	5	0	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:81410849T>C	ENST00000568107.2	+	10	1690	c.1528T>C	c.(1528-1530)Tta>Cta	p.L510L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	510					cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CGACCAGAATTTATGCATCCC	0.398																																					GBM(106;1239 1507 7582 9741 33976)												0													216	210	212					16																	81410849		2201	4300	6501	SO:0001819	synonymous_variant	0			AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"Kelch-like", "BTB/POZ domain containing"	4137	protein-coding gene	gene with protein product	"kelch-like family member 16"	605379	"giant axonal neuropathy (gigaxonin)"			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.1528T>C	16.37:g.81410849T>C				Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L510	ENST00000568107.2	37	c.1528	CCDS10935.1	16																																																																																			GAN	-	pirsf_Kelch-like_gigaxonin	ENSG00000261609		0.398	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAN	HGNC	protein_coding	OTTHUMT00000269050.3	-	0	124	0	T			81410849	1	tier1	-	no_errors	ENST00000568107	ensembl	human	known	74_37	silent	40.55	129	88	SNP	0.233	C	C	81410849	T	C	81410849	2	2	52	1	0	0	0	0	0	0	0	1	6257	1838	64	4		4	GAN	16	81410849	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	106833	81410849	8943904	683	13023											
KLHL36	79786	genome.wustl.edu	37	chr16	84695293	84695293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctatgctacgaccacCggacagacgtgtgggaggag	10	6	14	11	3	0	1	0	0	0	1	0	5	0	4	3	3	3	2	3	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:84695293C>T	ENST00000564996.1	+	5	1546	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	KLHL36_ENST00000258157.5_Missense_Mutation_p.R406W	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	469					protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTACGACCACCGGACAGACGT	0.642																																																	0													78	74	75					16																	84695293		2199	4300	6499	SO:0001583	missense	0			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"Kelch-like", "BTB/POZ domain containing"	17844	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 44", "kelch-like 36 (Drosophila)"	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.1405C>T	16.37:g.84695293C>T	ENSP00000456743:p.Arg469Trp		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R469W	ENST00000564996.1	37	c.1405	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976575	0.74360	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67698	-0.28	5.66	4.72	0.59763	Kelch-type beta propeller (1);	0.187395	0.48767	N	0.000178	T	0.78629	0.4313	M	0.71036	2.16	0.24255	N	0.995303	D;D	0.89917	1.0;0.999	D;P	0.63703	0.917;0.818	T	0.72316	-0.4330	10	0.72032	D	0.01	.	13.616	0.62108	0.0:0.926:0.0:0.074	.	406;469	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	W	469;406	ENSP00000258157:R406W	ENSP00000258157:R406W	R	+	1	2	KLHL36	83252794	0.964000	0.33143	0.985000	0.45067	0.985000	0.73830	2.011000	0.40922	1.398000	0.46701	0.655000	0.94253	CGG	KLHL36	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000135686		0.642	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	-	0	28	0	C			84695293	1	tier1	-	no_errors	ENST00000564996	ensembl	human	known	74_37	missense	49.02	26	25	SNP	0.977	T	T	84695293	C	T	84695293	3	4	52	1	0	0	0	0	1	0	0	0	8416	643	23	1	1419	1	KLHL36	16	84695293	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3284444	84695293	5659460	684	13024											
MTHFSD	64779	genome.wustl.edu	37	chr16	86585831	86585831	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggggggcatcaggatttActttaatggtcctggccgtt	6	14	13	8	1	2	0	1	0	1	0	3	1	3	1	2	6	1	2	2	6	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:86585831A>G	ENST00000360900.6	-	3	149				MTHFSD_ENST00000546093.1_5'UTR|MTHFSD_ENST00000322911.6_Intron|MTHFSD_ENST00000381214.5_Missense_Mutation_p.V64A|MTHFSD_ENST00000543303.2_Missense_Mutation_p.V63A|MTHFSD_ENST00000568037.1_5'UTR	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ATCAGGATTTACTTTAATGGT	0.502																																																	0													100	92	94					16																	86585831		692	1591	2283	SO:0001627	intron_variant	0			AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"RNA binding motif (RRM) containing"	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.124-79T>C	16.37:g.86585831A>G			A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Missense_Mutation	SNP	pfam_FTHF_cligase,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V64A	ENST00000360900.6	37	c.191	CCDS54047.1	16	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478551	0.63849	.	.	ENSG00000103248	ENST00000381214	T	0.49720	0.77	5.93	5.93	0.95920	.	.	.	.	.	T	0.60222	0.2252	L	0.50919	1.6	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.65010	0.931;0.931	T	0.60182	-0.7313	9	0.48119	T	0.1	.	12.6865	0.56949	0.8629:0.1371:0.0:0.0	.	64;63	E9PAM1;B7ZLC0	.;.	A	64	ENSP00000370612:V64A	ENSP00000370612:V64A	V	-	2	0	MTHFSD	85143332	1.000000	0.71417	0.986000	0.45419	0.334000	0.28698	6.594000	0.74104	2.267000	0.75376	0.533000	0.62120	GTA	MTHFSD	-	pfam_FTHF_cligase	ENSG00000103248		0.502	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTHFSD	HGNC	protein_coding	OTTHUMT00000432182.1	-	0	20	0	A	NM_022764		86585831	-1	tier1	-	no_errors	ENST00000381214	ensembl	human	known	74_37	missense	32.61	31	15	SNP	0.996	G	G	86585831	A	G	86585831	1	3	52	0	1	0	0	0	0	0	0	0	9971	391	14	4		4	MTHFSD	16	86585831	Intron	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1890538	86585831	3768922	685	13025											
JPH3	57338	genome.wustl.edu	37	chr16	87677966	87677966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgctcacccctgaggaCgtccatcaactccctgcgca	8	7	7	19	3	2	1	2	1	0	0	5	2	5	2	5	1	2	2	5	1	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:87677966C>T	ENST00000284262.2	+	2	727	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	162					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCCCTGAGGACGTCCATCAAC	0.731																																																	0													52	54	53					16																	87677966		2198	4297	6495	SO:0001583	missense	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.485C>T	16.37:g.87677966C>T	ENSP00000284262:p.Thr162Met		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.T162M	ENST00000284262.2	37	c.485	CCDS10962.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673502	0.88445	.	.	ENSG00000154118	ENST00000537256;ENST00000284262	T	0.55930	0.49	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72637	0.3485	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.76561	-0.2914	10	0.72032	D	0.01	.	17.3468	0.87311	0.0:1.0:0.0:0.0	.	162	Q8WXH2	JPH3_HUMAN	M	25;162	ENSP00000284262:T162M	ENSP00000284262:T162M	T	+	2	0	JPH3	86235467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.514000	0.81750	2.334000	0.79466	0.462000	0.41574	ACG	JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.731	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	-	0	61	0	C			87677966	1	tier1	-	no_errors	ENST00000284262	ensembl	human	known	74_37	missense	34.62	85	45	SNP	1.000	T	T	87677966	C	T	87677966	3	4	52	1	0	0	0	0	1	0	0	0	7989	536	19	1	491	1	JPH3	16	87677966	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1092135	87677966	2676787	686	13026											
JPH3	57338	genome.wustl.edu	37	chr16	87678537	87678537	+	Frame_Shift_Del	DEL	C	C	-																															ggcaagcgcaagaacctcatCcccctgcgggccagcaagat																								rs563154923		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:87678537delC	ENST00000284262.2	+	2	1298	c.1056delC	c.(1054-1056)atcfs	p.I352fs		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	352					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGAACCTCATCCCCCTGCGGG	0.662																																																	0													38	46	43					16																	87678537		2198	4300	6498	SO:0001589	frameshift_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.1056delC	16.37:g.87678537delC	ENSP00000284262:p.Ile352fs		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Frame_Shift_Del	DEL	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.L354fs	ENST00000284262.2	37	c.1056	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.662	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2		0	30	0	C			87678537	1	tier1		no_errors	ENST00000284262	ensembl	human	known	74_37	frame_shift_del	37.31	42	25	DEL	1.000	-	-	87678537	C	-	87678537	7	5	52	1	0	1	0	1	0	0	0	0	7989	845	30	0	1062	0	JPH3	16	87678537	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	571	87678537	2676216	687	13027											
RPL13	6137	genome.wustl.edu	37	chr16	89629407	89629407	+	Frame_Shift_Del	DEL	G	G	-																															cttcggcatacgggcaaaaaGagccaaggaagccgcagaac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89629407delG	ENST00000393099.3	+	5	842	c.593delG	c.(592-594)agafs	p.R198fs	RPL13_ENST00000311528.5_Frame_Shift_Del_p.R198fs|RPL13_ENST00000452368.3_Frame_Shift_Del_p.R151fs|RPL13_ENST00000567815.1_Frame_Shift_Del_p.R198fs|SNORD68_ENST00000363214.1_RNA	NM_033251.2	NP_150254.1	P26373	RL13_HUMAN	ribosomal protein L13	198					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|cytosolic ribosome (GO:0022626)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			lung(3)|skin(1)|upper_aerodigestive_tract(2)	6		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)		CGGGCAAAAAGAGCCAAGGAA	0.527																																																	0													22	26	25					16																	89629407		2189	4283	6472	SO:0001589	frameshift_variant	0			AB007172	CCDS10979.1, CCDS58492.1	16q24.3	2011-04-06			ENSG00000167526	ENSG00000167526		"L ribosomal proteins"	10303	protein-coding gene	gene with protein product		113703				9582194	Standard	NM_000977		Approved	D16S444E, BBC1, L13	uc002fnm.2	P26373	OTTHUMG00000133770	ENST00000393099.3:c.593delG	16.37:g.89629407delG	ENSP00000376811:p.Arg198fs		B4DLX3|F5H1S2|Q3KQT8|Q567Q8|Q9BPX0	Frame_Shift_Del	DEL	pfam_Ribosomal_L13e	p.R198fs	ENST00000393099.3	37	c.593	CCDS10979.1	16																																																																																			RPL13	-	NULL	ENSG00000167526		0.527	RPL13-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL13	HGNC	protein_coding	OTTHUMT00000258294.2		0	23	0	G	NM_000977		89629407	1	tier1		no_errors	ENST00000311528	ensembl	human	known	74_37	frame_shift_del	23.08	30	9	DEL	1.000	-	-	89629407	G	-	89629407	7	5	52	1	0	1	0	1	0	0	0	0	13604	942	33	0	611	0	RPL13	16	89629407	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	1950870	89629407	725346	688	13028											
SPATA2L	124044	genome.wustl.edu	37	chr16	89764373	89764374	+	Frame_Shift_Ins	INS	-	-	G																															gtaagcagcaggggagcctcINSgggggggcaggggtggcggc																								rs368444058		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89764373_89764374insG	ENST00000289805.5	-	3	711_712	c.643_644insC	c.(643-645)cgafs	p.R215fs	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	215										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGGGAGCCTCGGGGGGGCAGG	0.703																																																	0										12,3628		0,12,1808						1	0.1			12	11,7225		0,11,3607	no	frameshift	SPATA2L	NM_152339.3		0,23,5415	A1A1,A1R,RR		0.152,0.3297,0.2115				23,10853				SO:0001589	frameshift_variant	0			AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 76"	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.644dupC	16.37:g.89764380_89764380dupG	ENSP00000289805:p.Arg215fs		D3DX85|Q8NHV3	Frame_Shift_Ins	INS	NULL	p.R215fs	ENST00000289805.5	37	c.644_643	CCDS10985.1	16																																																																																			SPATA2L	-	NULL	ENSG00000158792		0.703	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2L	HGNC	protein_coding	OTTHUMT00000269923.1		0	45	0	-	NM_152339		89764374	-1	tier1		no_errors	ENST00000289805	ensembl	human	known	74_37	frame_shift_ins	21.90	82	23	INS	0.007:0.010	G	G	89764374	-	G	89764373	7	5	52	1	0	1	1	0	0	0	0	0	15056	884	31	0	634	0	SPATA2L	16	89764373	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	134966	89764373	590380	689	13029											
C16orf7	9605	genome.wustl.edu	37	chr16	89777228	89777228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggggccgcggggctgCgctgggctcgggcggggaca	2	5	22	12	5	0	0	0	0	0	0	2	1	1	1	2	8	1	3	2	8	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89777228C>T	ENST00000389386.3	-	10	1148	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.A272T|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	342					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										CGCGGGGCTGCGCTGGGCTCG	0.751																																																	0													2	2	2					16																	89777228		1373	3167	4540	SO:0001583	missense	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1024G>A	16.37:g.89777228C>T	ENSP00000374037:p.Ala342Thr			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.A342T	ENST00000389386.3	37	c.1024	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	C	4.465	0.086119	0.08583	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	.	.	.	3.82	-2.33	0.06724	.	1.360170	0.04842	N	0.440655	T	0.28499	0.0705	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18871	-1.0323	9	0.33940	T	0.23	.	5.7398	0.18087	0.0:0.2849:0.308:0.4071	.	342	Q9Y2B5	CP007_HUMAN	T	342;373	.	ENSP00000261625:A373T	A	-	1	0	C16orf7	88304729	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.203000	0.03019	-0.490000	0.06707	-0.459000	0.05422	GCA	VPS9D1	-	NULL	ENSG00000075399		0.751	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0	15	0	C	NM_004913		89777228	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	45.16	16	14	SNP	0.005	T	T	89777228	C	T	89777228	3	4	52	1	0	0	0	0	1	0	0	0	1833	768	27	1	895	1	C16orf7	16	89777228	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	12855	89777228	577525	690	13030											
TCF25	22980	genome.wustl.edu	37	chr16	89972642	89972642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacccaggaatatccacCgccatgtgatcctctctgag	9	9	9	14	1	1	2	0	2	1	0	4	3	3	3	5	1	1	1	5	1	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr16:89972642C>T	ENST00000263346.8	+	15	1725	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.R322C	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	557					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GAATATCCACCGCCATGTGAT	0.567																																																	0													66	57	60					16																	89972642		2197	4300	6497	SO:0001583	missense	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1669C>T	16.37:g.89972642C>T	ENSP00000263346:p.Arg557Cys		Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.R557C	ENST00000263346.8	37	c.1669	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292056	0.80914	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	.	.	.	5.28	5.28	0.74379	.	0.047549	0.85682	D	0.000000	D	0.85902	0.5805	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89154	0.3525	9	0.87932	D	0	.	14.7916	0.69846	0.1445:0.8555:0.0:0.0	.	322;557	Q9H384;Q9BQ70	.;TCF25_HUMAN	C	557;322	.	ENSP00000263346:R557C	R	+	1	0	TCF25	88500143	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.893000	0.56243	2.626000	0.88956	0.655000	0.94253	CGC	TCF25	-	pfam_TCF25	ENSG00000141002		0.567	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	-	0	41	0	C	NM_014972		89972642	1	tier1	-	no_errors	ENST00000263346	ensembl	human	known	74_37	missense	21.95	64	18	SNP	1.000	T	T	89972642	C	T	89972642	3	4	52	1	0	0	0	0	1	0	0	0	15740	652	23	1	1727	1	TCF25	16	89972642	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	195414	89972642	382111	691	13031											
ABR	29	genome.wustl.edu	37	chr17	910416	910416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtacctgcgccatgaCgtcatgggaccagatgtccg	8	7	13	13	3	1	2	1	1	0	1	2	3	2	3	5	2	2	1	5	2	1	1	rs111816976		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:910416C>T	ENST00000302538.5	-	22	2625	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	ABR_ENST00000291107.2_Missense_Mutation_p.V790I|ABR_ENST00000544583.2_Missense_Mutation_p.V781I|ABR_ENST00000543210.2_Missense_Mutation_p.V278I|ABR_ENST00000536794.2_Missense_Mutation_p.V609I|ABR_ENST00000574437.1_Missense_Mutation_p.V781I|ABR_ENST00000572441.1_Intron	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	827	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGCCATGACGTCATGGGAC	0.662																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													135	106	116					17																	910416		2203	4300	6503	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2479G>A	17.37:g.910416C>T	ENSP00000303909:p.Val827Ile		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.V827I	ENST00000302538.5	37	c.2479	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.299934	0.95574	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	T;T;T;T;T	0.24723	1.85;1.88;1.84;3.1;2.95	6.17	6.17	0.99709	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.47488	0.1448	L	0.50333	1.59	0.50632	D	0.999888	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.999;0.995	D;D;D;P;P	0.73708	0.929;0.981;0.981;0.899;0.76	T	0.17776	-1.0358	10	0.56958	D	0.05	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	609;278;790;737;827	B7Z683;F5H3S2;Q12979-2;B7Z2X0;Q12979	.;.;.;.;ABR_HUMAN	I	827;781;790;609;278	ENSP00000303909:V827I;ENSP00000442048:V781I;ENSP00000291107:V790I;ENSP00000437429:V609I;ENSP00000445198:V278I	ENSP00000291107:V790I	V	-	1	0	ABR	857166	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.811000	0.86092	2.941000	0.99782	0.655000	0.94253	GTC	ABR	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000159842		0.662	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	-	0	26	0	C			910416	-1	tier1	rs111816976	no_errors	ENST00000302538	ensembl	human	known	74_37	missense	47.17	28	25	SNP	1.000	T	T	910416	C	T	910416	3	4	52	1	0	0	0	0	1	0	0	0	99	536	19	1	108	1	ABR	17	910416	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		910416	80284794	692	13032											
WDR81	124997	genome.wustl.edu	37	chr17	1628919	1628919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagtcttttacgggctgaGgccttgctggagtcgccgga	5	11	14	11	3	1	1	0	1	1	0	2	3	1	3	3	4	2	2	3	4	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:1628919G>T	ENST00000409644.1	+	1	666	c.666G>T	c.(664-666)gaG>gaT	p.E222D	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	222					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TACGGGCTGAGGCCTTGCTGG	0.587																																																	0													33	30	31					17																	1628919		692	1590	2282	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.666G>T	17.37:g.1628919G>T	ENSP00000386609:p.Glu222Asp		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E222D	ENST00000409644.1	37	c.666	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641175	0.47153	.	.	ENSG00000167716	ENST00000409644	T	0.19806	2.12	5.65	2.37	0.29283	.	.	.	.	.	T	0.26340	0.0643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02144	-1.1206	6	0.34782	T	0.22	.	9.3348	0.38043	0.394:0.0:0.606:0.0	.	.	.	.	D	222	ENSP00000386609:E222D	ENSP00000386609:E222D	E	+	3	2	WDR81	1575669	0.982000	0.34865	1.000000	0.80357	0.260000	0.26232	0.286000	0.18902	0.866000	0.35629	0.655000	0.94253	GAG	WDR81	-	superfamily_Kinase-like_dom	ENSG00000167716		0.587	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	-	0	23	0	G	NM_152348		1628919	1	tier1	-	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.998	T	T	1628919	G	T	1628919	3	4	52	1	0	0	0	0	1	0	0	0	17379	991	35	3	730	3	WDR81	17	1628919	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	718503	1628919	79566291	693	13033											
PLD2	5338	genome.wustl.edu	37	chr17	4711646	4711646	+	Frame_Shift_Del	DEL	T	T	-																															accaagaagaaataccgtcaTtttcaggagctgcatcggga																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:4711646delT	ENST00000263088.6	+	4	449	c.318delT	c.(316-318)catfs	p.H106fs	RP11-81A22.5_ENST00000571067.1_lincRNA|PLD2_ENST00000572940.1_Frame_Shift_Del_p.H106fs	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	106	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AATACCGTCATTTTCAGGAGC	0.542																																																	0													192	188	190					17																	4711646		2203	4300	6503	SO:0001589	frameshift_variant	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.318delT	17.37:g.4711646delT	ENSP00000263088:p.His106fs		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Frame_Shift_Del	DEL	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.Q108fs	ENST00000263088.6	37	c.318	CCDS11057.1	17																																																																																			PLD2	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox	ENSG00000129219		0.542	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3		0	22	0	T	NM_002663		4711646	1	tier1		no_errors	ENST00000263088	ensembl	human	known	74_37	frame_shift_del	26.56	47	17	DEL	1.000	-	-	4711646	T	-	4711646	7	5	52	1	0	1	0	1	0	0	0	0	12085	1490	52	0	328	0	PLD2	17	4711646	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	3082727	4711646	76483564	694	13034											
ZBTB4	57659	genome.wustl.edu	37	chr17	7369187	7369187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaacgctcgcaggccgCgcacacatacagcacgtggc	10	4	13	14	5	0	0	0	0	0	0	1	1	0	1	1	3	3	5	1	3	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7369187C>T	ENST00000311403.4	-	3	1273	c.934G>A	c.(934-936)Gcg>Acg	p.A312T	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A312T	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	312					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TCGCAGGCCGCGCACACATAC	0.637																																																	0													71	59	63					17																	7369187		2203	4300	6503	SO:0001583	missense	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.934G>A	17.37:g.7369187C>T	ENSP00000307858:p.Ala312Thr		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A312T	ENST00000311403.4	37	c.934	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279951	0.40294	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.27402	1.67;1.67	5.63	5.63	0.86233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.173296	0.38005	N	0.001845	T	0.11623	0.0283	N	0.05280	-0.08	0.30712	N	0.749134	P	0.45986	0.87	B	0.36378	0.223	T	0.05835	-1.0861	10	0.13108	T	0.6	-15.459	8.7308	0.34498	0.0:0.8386:0.0:0.1614	.	312	Q9P1Z0	ZBTB4_HUMAN	T	312	ENSP00000307858:A312T;ENSP00000369973:A312T	ENSP00000307858:A312T	A	-	1	0	ZBTB4	7309911	0.990000	0.36364	0.961000	0.40146	0.023000	0.10783	1.607000	0.36836	2.651000	0.90000	0.650000	0.86243	GCG	ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174282		0.637	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	-	0	45	0	C	NM_020899		7369187	-1	tier1	-	no_errors	ENST00000311403	ensembl	human	known	74_37	missense	20.16	99	25	SNP	0.998	T	T	7369187	C	T	7369187	3	4	52	1	0	0	0	0	1	0	0	0	17589	768	27	1	2115	1	ZBTB4	17	7369187	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2657541	7369187	73826023	695	13035											
TP53	7157	genome.wustl.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R282W	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	38	0	G	NM_000546		7577094	-1	tier1	rs28934574	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.997	A	A	7577094	G	A	7577094	3	1	52	1	0	0	0	0	1	0	0	0	16429	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	207907	7577094	73618116	696	13036											
TP53	7157	genome.wustl.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	27	0	T	NM_000546		7578190	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	44.58	46	37	SNP	0.998	C	C	7578190	T	C	7578190	3	2	52	1	0	0	0	0	1	0	0	0	16429	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1096	7578190	73617020	697	13037											
CHD3	1107	genome.wustl.edu	37	chr17	7798765	7798765	+	Frame_Shift_Del	DEL	C	C	-																															atggaaatccagatgtcccaCccccccgtcctcttcaaggc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7798765delC	ENST00000330494.7	+	10	1762	c.1612delC	c.(1612-1614)cccfs	p.P539fs	CHD3_ENST00000358181.4_Frame_Shift_Del_p.P539fs|CHD3_ENST00000380358.4_Frame_Shift_Del_p.P598fs	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	539	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGTCCCACCCCCCCGTCC	0.577																																																	0													130	103	112					17																	7798765		2203	4300	6503	SO:0001589	frameshift_variant	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1612delC	17.37:g.7798765delC	ENSP00000332628:p.Pro539fs		D3DTQ9|E9PG89|Q9Y4I0	Frame_Shift_Del	DEL	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R540fs	ENST00000330494.7	37	c.1612	CCDS32554.1	17																																																																																			CHD3	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000170004		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1		0	33	0	C	NM_001005273		7798765	1			no_errors	ENST00000330494	ensembl	human	known	74_37	frame_shift_del	9.46	67	7	DEL	0.007	0	-	7798765	C	-	7798765	7	5	52	1	0	1	0	1	0	0	0	0	3333	507	18	0	1931	0	CHD3	17	7798765	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	220575	7798765	73396445	698	13038											
ALOX12B	242	genome.wustl.edu	37	chr17	7979514	7979514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtgcattccacaccGccaagctgtcatcgcggtag	8	9	9	15	3	2	0	1	0	1	0	5	0	3	0	4	1	2	3	4	1	2	2	rs141010860		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:7979514G>A	ENST00000319144.4	-	11	1771	c.1511C>T	c.(1510-1512)gCg>gTg	p.A504V	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	504	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ATTCCACACCGCCAAGCTGTC	0.572										Multiple Myeloma(8;0.094)																																							0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	135	111	119		1511	2.8	0.2	17	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	no	missense	ALOX12B	NM_001139.2	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	504/702	7979514	2,13004	2203	4300	6503	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1511C>T	17.37:g.7979514G>A	ENSP00000315167:p.Ala504Val			Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.A504V	ENST00000319144.4	37	c.1511	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264359	0.39995	2.27E-4	1.16E-4	ENSG00000179477	ENST00000319144	T	0.76709	-1.04	4.98	2.81	0.32909	Lipoxygenase, C-terminal (3);	0.308672	0.34046	N	0.004319	T	0.70701	0.3254	L	0.41710	1.295	0.09310	N	1	P	0.44734	0.842	P	0.45998	0.5	T	0.62835	-0.6770	10	0.54805	T	0.06	-15.1141	7.8713	0.29567	0.0:0.2787:0.5577:0.1636	.	504	O75342	LX12B_HUMAN	V	504	ENSP00000315167:A504V	ENSP00000315167:A504V	A	-	2	0	ALOX12B	7920239	0.375000	0.25089	0.223000	0.23860	0.104000	0.19210	0.789000	0.26886	1.077000	0.40990	0.455000	0.32223	GCG	ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179477		0.572	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	-	0	28	0	G			7979514	-1	tier1	rs141010860	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	52.00	24	26	SNP	0.210	A	A	7979514	G	A	7979514	3	1	52	1	0	0	0	0	1	0	0	0	537	1087	38	1	614	1	ALOX12B	17	7979514	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	180749	7979514	73215696	699	13039											
PER1	5187	genome.wustl.edu	37	chr17	8053368	8053368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgccccggcgctctggCggcagtcgaagcttgagctc	4	8	13	16	4	1	1	0	1	1	0	3	2	1	1	3	3	3	4	3	3	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:8053368C>T	ENST00000317276.4	-	4	687	c.450G>A	c.(448-450)ccG>ccA	p.P150P	PER1_ENST00000581082.1_Silent_p.P150P|PER1_ENST00000354903.5_Silent_p.P134P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	150	Interaction with BTRC. {ECO:0000269|PubMed:15917222}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCGCTCTGGCGGCAGTCGAA	0.627			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													100	113	109					17																	8053368		2202	4300	6502	SO:0001819	synonymous_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.450G>A	17.37:g.8053368C>T			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P150	ENST00000317276.4	37	c.450	CCDS11131.1	17																																																																																			PER1	-	NULL	ENSG00000179094		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2		0	19	0	C			8053368	-1			no_errors	ENST00000317276	ensembl	human	known	74_37	silent	10.81	31	4	SNP	0.898	T	T	8053368	C	T	8053368	2	4	52	1	0	0	0	0	0	0	0	1	11768	755	27	1		1	PER1	17	8053368	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	73854	8053368	73141842	700	13040											
CCDC42	146849	genome.wustl.edu	37	chr17	8638830	8638830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccagccgggccttggcgcGctcaatcttctcctggcctt	3	10	11	17	4	3	0	1	0	2	0	4	0	3	0	5	3	1	1	5	3	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:8638830G>A	ENST00000293845.3	-	5	818	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	198										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GCCTTGGCGCGCTCAATCTTC	0.582																																																	0													61	55	57					17																	8638830		2203	4300	6503	SO:0001583	missense	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.592C>T	17.37:g.8638830G>A	ENSP00000293845:p.Arg198Cys		Q8N6Q0	Missense_Mutation	SNP	NULL	p.R198C	ENST00000293845.3	37	c.592	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355571	0.41700	.	.	ENSG00000161973	ENST00000293845	T	0.25250	1.81	5.51	4.5	0.54988	.	0.458483	0.20791	N	0.085602	T	0.25457	0.0619	L	0.48642	1.525	0.50632	D	0.999881	D	0.61697	0.99	B	0.43623	0.425	T	0.01613	-1.1312	10	0.52906	T	0.07	-3.1205	12.8844	0.58034	0.0:0.0:0.7254:0.2746	.	198	Q96M95	CCD42_HUMAN	C	198	ENSP00000293845:R198C	ENSP00000293845:R198C	R	-	1	0	CCDC42	8579555	0.930000	0.31532	0.951000	0.38953	0.430000	0.31655	2.109000	0.41863	2.868000	0.98415	0.557000	0.71058	CGC	CCDC42	-	NULL	ENSG00000161973		0.582	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	-	0	23	0	G	NM_144681		8638830	-1	tier1	-	no_errors	ENST00000293845	ensembl	human	known	74_37	missense	46.55	31	27	SNP	0.670	A	A	8638830	G	A	8638830	3	1	52	1	0	0	0	0	1	0	0	0	2821	1087	38	1	370	1	CCDC42	17	8638830	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	585462	8638830	72556380	701	13041											
USP43	124739	genome.wustl.edu	37	chr17	9578294	9578294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctatccccttgcgccAgacgaggtacgtgagtgtcg	7	9	11	14	4	0	2	0	1	0	1	2	3	1	2	5	1	3	1	5	1	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:9578294A>G	ENST00000285199.7	+	4	923	c.827A>G	c.(826-828)cAg>cGg	p.Q276R	USP43_ENST00000570475.1_Missense_Mutation_p.Q276R|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	276	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCCTTGCGCCAGACGAGGTAC	0.537																																																	0													260	252	255					17																	9578294		2066	4200	6266	SO:0001583	missense	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"Ubiquitin-specific peptidases"	20072	protein-coding gene	gene with protein product			"ubiquitin specific protease 43"			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.827A>G	17.37:g.9578294A>G	ENSP00000285199:p.Gln276Arg		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.Q276R	ENST00000285199.7	37	c.827	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016161	0.75161	.	.	ENSG00000154914	ENST00000285199	T	0.02737	4.18	4.46	4.46	0.54185	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.083433	0.50627	U	0.000109	T	0.08891	0.0220	L	0.43598	1.365	0.51012	D	0.999907	D;P	0.89917	1.0;0.599	D;P	0.87578	0.998;0.57	T	0.37174	-0.9717	10	0.30078	T	0.28	-15.582	11.7089	0.51614	1.0:0.0:0.0:0.0	.	276;276	B7ZVX5;Q70EL4	.;UBP43_HUMAN	R	276	ENSP00000285199:Q276R	ENSP00000285199:Q276R	Q	+	2	0	USP43	9519019	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.420000	0.90256	1.668000	0.50843	0.460000	0.39030	CAG	USP43	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000154914		0.537	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	-	0	64	0	A	NM_153210		9578294	1	tier1	-	no_errors	ENST00000285199	ensembl	human	known	74_37	missense	42.86	68	51	SNP	1.000	G	G	9578294	A	G	9578294	3	3	52	1	0	0	0	0	1	0	0	0	17123	188	7	4	841	4	USP43	17	9578294	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	939464	9578294	71616916	702	13042											
COX10	1352	genome.wustl.edu	37	chr17	14095522	14095522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggctggacagcggccacGggcagcctcgatgctggtaa	8	6	16	11	3	0	0	0	0	0	0	1	2	0	1	2	5	3	4	2	5	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:14095522G>A	ENST00000261643.3	+	6	989	c.912G>A	c.(910-912)acG>acA	p.T304T	COX10_ENST00000537334.1_Silent_p.T87T|COX10_ENST00000536205.1_Silent_p.T112T	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	304					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CAGCGGCCACGGGCAGCCTCG	0.587																																																	0													72	73	73					17																	14095522		2203	4300	6503	SO:0001819	synonymous_variant	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.912G>A	17.37:g.14095522G>A			B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.T304	ENST00000261643.3	37	c.912	CCDS11166.1	17																																																																																			COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	ENSG00000006695		0.587	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1		0	70	0	G	NM_001303		14095522	1			no_errors	ENST00000261643	ensembl	human	known	74_37	silent	10.43	103	12	SNP	0.010	A	A	14095522	G	A	14095522	2	1	52	1	0	0	0	0	0	0	0	1	3769	1103	39	1		1	COX10	17	14095522	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4517228	14095522	67099688	703	13043											
FAM18B	51030	genome.wustl.edu	37	chr17	18694321	18694323	+	In_Frame_Del	DEL	TTG	TTG	-																															cctgtatggtgacaattatcTtgttgttgtcgtgtgacttt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:18694321_18694323delTTG	ENST00000307767.8	+	3	507_509	c.208_210delTTG	c.(208-210)ttgdel	p.L72del	TVP23B_ENST00000476139.1_In_Frame_Del_p.L8del|TVP23B_ENST00000581733.1_In_Frame_Del_p.L8del|TVP23B_ENST00000574226.1_In_Frame_Del_p.L72del	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	72						integral component of membrane (GO:0016021)											GACAATTATCTTGTTGTTGTCGT	0.325																																																	0																																										SO:0001651	inframe_deletion	0			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.208_210delTTG	17.37:g.18694327_18694329delTTG	ENSP00000305654:p.Leu72del		A8K448|Q96HK5|Q9Y3E6	In_Frame_Del	DEL	pfam_DUF846_euk	p.L72in_frame_del	ENST00000307767.8	37	c.208_210	CCDS42274.1	17																																																																																			TVP23B	-	pfam_DUF846_euk	ENSG00000171928		0.325	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TVP23B	HGNC	protein_coding	OTTHUMT00000130667.2		0	82	0	TTG	NM_016078		18694323	1	tier1		no_errors	ENST00000307767	ensembl	human	known	74_37	in_frame_del	25.00	84	28	DEL	1.000:1.000:0.999	-	-	18694323	TTG	-	18694321	7	5	52	1	0	1	0	1	0	0	0	0	5538	1606	56	0	218	0	FAM18B	17	18694321	In_Frame_Del	DEL	TTG	TCGA-L5-A43J-01A-12D-A247-09	4598799	18694321	62500889	704	13044											
SLC5A10	125206	genome.wustl.edu	37	chr17	18916758	18916758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgccgtccgagtgcctgCgggcctgcggggccgaggtc	2	7	19	13	5	0	0	0	0	0	0	2	2	1	0	5	5	4	0	5	5	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:18916758C>T	ENST00000395645.3	+	10	1036	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	SLC5A10_ENST00000395643.2_Missense_Mutation_p.R313W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R356W|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R273W|SLC5A10_ENST00000317977.6_Missense_Mutation_p.R273W	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	340					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CGAGTGCCTGCGGGCCTGCGG	0.627																																																	0													62	54	57					17																	18916758		2203	4300	6503	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"Solute carriers"	23155	protein-coding gene	gene with protein product			"solute carrier family 5 (sodium/glucose cotransporter), member 10"				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1018C>T	17.37:g.18916758C>T	ENSP00000379007:p.Arg340Trp		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R356W	ENST00000395645.3	37	c.1066	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095605	0.56075	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000395645;ENST00000395643	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.04	2.99	0.34606	.	0.284419	0.34002	N	0.004360	D	0.93291	0.7862	M	0.84846	2.72	0.45307	D	0.998307	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	P;P;P;D	0.66716	0.761;0.846;0.888;0.946	D	0.93250	0.6634	10	0.87932	D	0	.	9.1701	0.37076	0.1604:0.6835:0.1561:0.0	.	313;340;356;273	A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;SC5AA_HUMAN;.;.	W	273;356;273;340;313	ENSP00000324346:R273W;ENSP00000379008:R356W;ENSP00000379004:R273W;ENSP00000379007:R340W;ENSP00000379005:R313W	ENSP00000324346:R273W	R	+	1	2	SLC5A10	18857483	0.002000	0.14202	1.000000	0.80357	0.423000	0.31445	0.370000	0.20433	1.978000	0.57642	0.313000	0.20887	CGG	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.627	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0	35	0	C	NM_152351		18916758	1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	43.52	61	47	SNP	1.000	T	T	18916758	C	T	18916758	3	4	52	1	0	0	0	0	1	0	0	0	14707	759	27	1	1104	1	SLC5A10	17	18916758	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	222437	18916758	62278452	705	13045											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319498	21319498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaggccagcccgctcttcGgcatcagccggcaggacctg	7	5	13	16	4	2	0	1	0	1	0	3	2	2	1	4	4	2	3	4	4	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:21319498G>A	ENST00000583088.1	+	3	1739	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G282S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	282					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCCGCTCTTCGGCATCAGCCG	0.612										Prostate(3;0.18)																																							0																																										SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.844G>A	17.37:g.21319498G>A	ENSP00000463778:p.Gly282Ser		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.G282S	ENST00000583088.1	37	c.844	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588792	0.66105	.	.	ENSG00000184185	ENST00000331718	D	0.92348	-3.02	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.90728	0.7090	L	0.58925	1.835	0.80722	D	1	B	0.25486	0.127	B	0.25884	0.064	D	0.87324	0.2320	10	0.30078	T	0.28	.	19.2593	0.93961	0.0:0.0:1.0:0.0	.	282	Q14500	IRK12_HUMAN	S	282	ENSP00000328150:G282S	ENSP00000328150:G282S	G	+	1	0	KCNJ12	21260091	1.000000	0.71417	0.988000	0.46212	0.918000	0.54935	9.690000	0.98676	2.543000	0.85770	0.655000	0.94253	GGC	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	91	0	G	NM_021012		21319498	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	19.25	130	31	SNP	1.000	A	A	21319498	G	A	21319498	3	1	52	1	0	0	0	0	1	0	0	0	8073	1116	39	1	846	1	KCNJ12	17	21319498	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2402740	21319498	59875712	706	13046											
LGALS9	3965	genome.wustl.edu	37	chr17	25969367	25969367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagctgtcctacatcaGcttccaggtcagactgtcca	8	11	9	13	0	2	1	2	0	0	1	5	1	5	1	3	1	4	3	3	1	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:25969367G>A	ENST00000395473.2	+	4	1905	c.437G>A	c.(436-438)aGc>aAc	p.S146N	LGALS9_ENST00000413914.2_Missense_Mutation_p.S89N|LGALS9_ENST00000310394.5_Missense_Mutation_p.S146N|LGALS9_ENST00000302228.5_Missense_Mutation_p.S146N|LGALS9_ENST00000313648.6_Missense_Mutation_p.S146N	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	146	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TCCTACATCAGCTTCCAGGTC	0.617																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)												0													45	39	41					17																	25969367		2202	4292	6494	SO:0001583	missense	0			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"Lectins, galactoside-binding"	6570	protein-coding gene	gene with protein product	"galectin 9"	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.437G>A	17.37:g.25969367G>A	ENSP00000378856:p.Ser146Asn		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.S146N	ENST00000395473.2	37	c.437	CCDS11222.1	17	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072771	0.36566	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394;ENST00000313648;ENST00000413914	T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44	3.94	-3.12	0.05282	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.352700	0.04388	N	0.361986	T	0.04497	0.0123	L	0.31664	0.95	0.18873	N	0.999981	B;B;B;B;B	0.32324	0.364;0.002;0.004;0.002;0.004	B;B;B;B;B	0.31751	0.135;0.03;0.02;0.034;0.034	T	0.39860	-0.9593	10	0.17369	T	0.5	.	4.3107	0.10969	0.3362:0.3135:0.3504:0.0	.	89;146;89;146;146	B4DWP7;F8W9W4;B4DJD7;Q3B8N1;O00182	.;.;.;.;LEG9_HUMAN	N	146;146;146;146;89	ENSP00000378856:S146N;ENSP00000306228:S146N;ENSP00000312259:S146N;ENSP00000318214:S146N;ENSP00000393695:S89N	ENSP00000306228:S146N	S	+	2	0	LGALS9	22993494	0.000000	0.05858	0.595000	0.28798	0.970000	0.65996	-1.300000	0.02751	-0.614000	0.05687	0.485000	0.47835	AGC	LGALS9	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	ENSG00000168961		0.617	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	-	0	78	0	G	NM_009587		25969367	1	tier1	-	no_errors	ENST00000395473	ensembl	human	known	74_37	missense	15.74	90	17	SNP	0.646	A	A	25969367	G	A	25969367	3	1	52	1	0	0	0	0	1	0	0	0	8777	971	34	3	451	3	LGALS9	17	25969367	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	4649869	25969367	55225843	707	13047											
FLOT2	2319	genome.wustl.edu	37	chr17	27211323	27211323	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcaacgtcataatctCtagggaaatcctgccaagaa	13	8	10	10	1	2	1	1	0	1	1	4	2	3	2	2	2	3	2	2	2	6	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:27211323C>A	ENST00000394908.4	-	3	246	c.142G>T	c.(142-144)Gag>Tag	p.E48*	FLOT2_ENST00000394906.2_Nonsense_Mutation_p.E103*|FLOT2_ENST00000585169.1_Intron|FLOT2_ENST00000577789.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	48					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GTCATAATCTCTAGGGAAATC	0.602																																																	0													50	54	53					17																	27211323		2064	4184	6248	SO:0001587	stop_gained	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.142G>T	17.37:g.27211323C>A	ENSP00000378368:p.Glu48*			Nonsense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E48*	ENST00000394908.4	37	c.142	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	36	5.736076	0.96865	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	.	.	.	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-23.1753	17.4593	0.87616	0.0:1.0:0.0:0.0	.	.	.	.	X	103;48	.	ENSP00000378366:E103X	E	-	1	0	FLOT2	24235449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.353000	0.79882	0.563000	0.77884	GAG	FLOT2	-	pfam_Band_7	ENSG00000132589		0.602	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3		0	14	0	C	NM_004475		27211323	-1			no_errors	ENST00000394908	ensembl	human	known	74_37	nonsense	7.89	35	3	SNP	1.000	A	A	27211323	C	A	27211323	4	1	52	1	0	0	0	0	0	1	0	0	5959	922	32	3	1180	3	FLOT2	17	27211323	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1241956	27211323	53983887	708	13048											
PHF12	57649	genome.wustl.edu	37	chr17	27234682	27234682	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtaaggcacacatccaTgtcagctcctgcaaggtggc	9	10	11	11	0	1	0	1	0	0	0	3	0	3	0	2	3	2	5	2	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:27234682T>A	ENST00000332830.4	-	13	3277	c.2467A>T	c.(2467-2469)Atg>Ttg	p.M823L	PHF12_ENST00000582655.1_5'Flank|PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACACATCCATGTCAGCTCCT	0.522																																																	0													106	84	91					17																	27234682		2203	4300	6503	SO:0001583	missense	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2467A>T	17.37:g.27234682T>A	ENSP00000329933:p.Met823Leu			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.M823L	ENST00000332830.4	37	c.2467	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142542	0.77888	.	.	ENSG00000109118	ENST00000332830	T	0.40476	1.03	4.44	3.37	0.38596	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	L	0.61218	1.895	0.80722	D	1	B;B	0.15930	0.008;0.015	B;B	0.12156	0.007;0.003	T	0.13710	-1.0499	10	0.28530	T	0.3	-10.8455	8.89	0.35427	0.0:0.0901:0.0:0.9099	.	805;823	B4DFE2;Q96QT6	.;PHF12_HUMAN	L	823	ENSP00000329933:M823L	ENSP00000329933:M823L	M	-	1	0	PHF12	24258808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.525000	0.81892	0.735000	0.32537	0.383000	0.25322	ATG	PHF12	-	superfamily_SMAD_FHA_domain,pfscan_FHA_dom	ENSG00000109118		0.522	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	-	0	36	0	T	NM_020889		27234682	-1	tier1	-	no_errors	ENST00000332830	ensembl	human	known	74_37	missense	42.50	46	34	SNP	1.000	A	A	27234682	T	A	27234682	3	1	52	1	0	0	0	0	1	0	0	0	11862	1464	51	5	559	5	PHF12	17	27234682	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	23359	27234682	53960528	709	13049											
MYO18A	399687	genome.wustl.edu	37	chr17	27424355	27424355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcccgctcatacttcagCcgccactcgccacctgtggg	7	7	9	18	3	2	0	2	0	0	0	3	0	2	0	5	1	3	1	5	1	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:27424355C>T	ENST00000527372.1	-	27	4296	c.4116G>A	c.(4114-4116)cgG>cgA	p.R1372R	MYO18A_ENST00000531253.1_Silent_p.R1372R|MYO18A_ENST00000533112.1_Silent_p.R1372R|MYO18A_ENST00000354329.4_Silent_p.R1372R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1372					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATACTTCAGCCGCCACTCGC	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													36	42	40					17																	27424355		2073	4195	6268	SO:0001819	synonymous_variant	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4116G>A	17.37:g.27424355C>T			Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.R1372	ENST00000527372.1	37	c.4116	CCDS45642.1	17																																																																																			MYO18A	-	pfam_Myosin_tail	ENSG00000196535		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	-	0	49	0	C	NM_078471		27424355	-1	tier1	-	no_errors	ENST00000354329	ensembl	human	known	74_37	silent	20.99	63	17	SNP	1.000	T	T	27424355	C	T	27424355	2	4	52	1	0	0	0	0	0	0	0	1	10103	726	26	3		3	MYO18A	17	27424355	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	189673	27424355	53770855	710	13050											
ADAP2	55803	genome.wustl.edu	37	chr17	29261308	29261308	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcctgaagtacttcacaaAggaacaggtaagatgccaga	15	7	9	10	0	1	3	1	1	0	2	2	4	2	4	3	2	3	2	3	2	5	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:29261308A>C	ENST00000330889.3	+	5	838	c.503A>C	c.(502-504)aAg>aCg	p.K168T	ADAP2_ENST00000580525.1_Missense_Mutation_p.K174T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	168	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TACTTCACAAAGGAACAGGTA	0.488																																																	1	Unknown(1)	central_nervous_system(1)											67	57	60					17																	29261308		2203	4300	6503	SO:0001583	missense	0			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.503A>C	17.37:g.29261308A>C	ENSP00000329468:p.Lys168Thr		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP	p.K168T	ENST00000330889.3	37	c.503	CCDS11261.1	17	.	.	.	.	.	.	.	.	.	.	A	3.270	-0.149262	0.06585	.	.	ENSG00000184060	ENST00000330889	T	0.25749	1.78	5.72	4.64	0.57946	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.344469	0.22403	U	0.060514	T	0.50240	0.1604	M	0.84082	2.675	0.45648	D	0.99857	D;D;D	0.89917	1.0;0.989;0.972	D;D;P	0.75484	0.986;0.948;0.824	T	0.49762	-0.8905	10	0.51188	T	0.08	.	8.6115	0.33806	0.9127:0.0:0.0873:0.0	.	174;168;168	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	T	168	ENSP00000329468:K168T	ENSP00000329468:K168T	K	+	2	0	ADAP2	26285434	1.000000	0.71417	0.412000	0.26496	0.000000	0.00434	6.697000	0.74603	0.991000	0.38814	-0.290000	0.09829	AAG	ADAP2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184060		0.488	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	-	0	37	0	A	NM_018404		29261308	1	tier1	-	no_errors	ENST00000330889	ensembl	human	known	74_37	missense	60.71	22	34	SNP	0.935	C	C	29261308	A	C	29261308	3	2	52	1	0	0	0	0	1	0	0	0	280	72	3	4	521	4	ADAP2	17	29261308	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1836953	29261308	51933902	711	13051											
MYO1D	4642	genome.wustl.edu	37	chr17	30986155	30986155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgaaaatcgtctgcagggCctcctcaaaacggcgaagaa	14	7	10	10	3	2	2	1	1	1	1	4	3	3	2	2	2	2	1	2	2	6	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:30986155C>A	ENST00000318217.5	-	17	2627	c.2323G>T	c.(2323-2325)Gcc>Tcc	p.A775S	MYO1D_ENST00000579584.1_Missense_Mutation_p.A775S|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Missense_Mutation_p.A687S	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	775					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GTCTGCAGGGCCTCCTCAAAA	0.522											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113	96	102					17																	30986155		2203	4300	6503	SO:0001583	missense	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2323G>T	17.37:g.30986155C>A	ENSP00000324527:p.Ala775Ser	821	A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A775S	ENST00000318217.5	37	c.2323	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	C	1.945	-0.442545	0.04604	.	.	ENSG00000176658	ENST00000318217	D	0.87412	-2.25	6.07	2.9	0.33743	.	0.628506	0.12769	U	0.440688	T	0.81781	0.4895	L	0.48642	1.525	0.80722	D	1	B;B	0.16396	0.017;0.017	B;B	0.18263	0.021;0.021	T	0.68530	-0.5384	10	0.08837	T	0.75	.	13.5897	0.61953	0.4314:0.5686:0.0:0.0	.	686;775	Q7Z3N6;O94832	.;MYO1D_HUMAN	S	775	ENSP00000324527:A775S	ENSP00000324527:A775S	A	-	1	0	MYO1D	28010268	1.000000	0.71417	0.969000	0.41365	0.018000	0.09664	2.339000	0.43965	0.380000	0.24823	-0.182000	0.12963	GCC	MYO1D	-	NULL	ENSG00000176658		0.522	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	-	0	66	0	C			30986155	-1	tier1	-	no_errors	ENST00000318217	ensembl	human	known	74_37	missense	20.00	68	17	SNP	1.000	A	A	30986155	C	A	30986155	3	1	52	1	0	0	0	0	1	0	0	0	10109	739	26	3	721	3	MYO1D	17	30986155	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1724847	30986155	50209055	712	13052											
LIG3	3980	genome.wustl.edu	37	chr17	33323122	33323122	+	Frame_Shift_Del	DEL	G	G	-																															acattccccaggcttttcctGggggccacagcatgatcttg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:33323122delG	ENST00000378526.4	+	10	1784	c.1651delG	c.(1651-1653)gggfs	p.G552fs	LIG3_ENST00000262327.5_Frame_Shift_Del_p.G552fs	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	552					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GGCTTTTCCTGGGGGCCACAG	0.527								Other BER factors																																									0													77	77	77					17																	33323122		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1651delG	17.37:g.33323122delG	ENSP00000367787:p.Gly552fs		Q16714|Q6NVK3	Frame_Shift_Del	DEL	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.G552fs	ENST00000378526.4	37	c.1651	CCDS11284.2	17																																																																																			LIG3	-	pfam_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.527	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3		0	25	0	G	NM_013975		33323122	1	tier1		no_errors	ENST00000378526	ensembl	human	known	74_37	frame_shift_del	41.03	23	16	DEL	1.000	-	-	33323122	G	-	33323122	7	5	52	1	0	1	0	1	0	0	0	0	8811	1348	47	0	1685	0	LIG3	17	33323122	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	2336967	33323122	47872088	713	13053											
FNDC8	54752	genome.wustl.edu	37	chr17	33457310	33457310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacttcagtttgcaaccCtggccactgacttcagcagc	8	12	7	14	0	3	1	3	1	0	0	3	1	3	1	2	1	4	3	2	1	1	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:33457310C>A	ENST00000158009.5	+	4	947	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	278	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GTTTGCAACCCTGGCCACTGA	0.527																																																	0													66	64	65					17																	33457310		2203	4300	6503	SO:0001583	missense	0			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"Fibronectin type III domain containing"	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.832C>A	17.37:g.33457310C>A	ENSP00000158009:p.Leu278Met		B2R9G6|Q9UFC2	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L278M	ENST00000158009.5	37	c.832	CCDS11290.1	17	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890764	0.33348	.	.	ENSG00000073598	ENST00000158009	T	0.43688	0.94	4.92	2.89	0.33648	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.312620	0.23343	N	0.049204	T	0.21267	0.0512	N	0.08118	0	0.80722	D	1	P	0.44578	0.838	B	0.39465	0.3	T	0.04961	-1.0915	10	0.66056	D	0.02	-13.0662	8.104	0.30874	0.0:0.1825:0.6455:0.1719	.	278	Q8TC99	FNDC8_HUMAN	M	278	ENSP00000158009:L278M	ENSP00000158009:L278M	L	+	1	2	FNDC8	30481423	0.449000	0.25689	0.990000	0.47175	0.985000	0.73830	0.434000	0.21494	0.765000	0.33221	-1.080000	0.02220	CTG	FNDC8	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000073598		0.527	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC8	HGNC	protein_coding	OTTHUMT00000256459.2	-	0	40	0	C	NM_017559		33457310	1	tier1	-	no_errors	ENST00000158009	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.994	A	A	33457310	C	A	33457310	3	1	52	1	0	0	0	0	1	0	0	0	5996	680	24	3	846	3	FNDC8	17	33457310	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	134188	33457310	47737900	714	13054											
CCL14	6358	genome.wustl.edu	37	chr17	34311431	34311431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatccataatccgctgaCgcgggatcttgtaggtagtg	10	11	12	8	3	1	1	0	1	1	0	3	2	3	2	2	2	0	4	2	2	4	5	rs144903710		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:34311431C>T	ENST00000394509.4	-	2	245	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CCL14_ENST00000586216.1_Missense_Mutation_p.R46H|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL16_ENST00000293275.3_5'Flank|CCL14_ENST00000536149.1_Missense_Mutation_p.R62H|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000435911.2_Missense_Mutation_p.R62H|CCL14_ENST00000480944.2_Missense_Mutation_p.R68H			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	46					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AATCCGCTGACGCGGGATCTT	0.557																																																	0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110	96	101		185,137	-5.3	0	17	dbSNP_134	101	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	CCL14	NM_032962.4,NM_032963.3	29,29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	62/110,46/94	34311431	3,13003	2203	4300	6503	SO:0001583	missense	0			Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"Chemokine ligands", "Endogenous ligands"	10612	protein-coding gene	gene with protein product		601392	"small inducible cytokine subfamily A (Cys-Cys), member 14"	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.137G>A	17.37:g.34311431C>T	ENSP00000378017:p.Arg46His		E1P649|E1P650|Q13954	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.R62H	ENST00000394509.4	37	c.185	CCDS32624.1	17	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638542	0.29157	2.27E-4	2.33E-4	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.05258	3.47;3.47;3.47	5.14	-5.26	0.02772	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.848521	0.09515	U	0.791691	T	0.02193	0.0068	.	.	.	0.09310	N	1	B;B	0.26708	0.157;0.13	B;B	0.21546	0.035;0.021	T	0.46898	-0.9158	9	0.15499	T	0.54	.	0.5549	0.00669	0.3991:0.1816:0.1251:0.2941	.	46;62	Q16627;Q16627-2	CCL14_HUMAN;.	H	46;62;62	ENSP00000378017:R46H;ENSP00000441771:R62H;ENSP00000409197:R62H	ENSP00000378017:R46H	R	-	2	0	CCL14	31335544	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.707000	0.01893	-0.659000	0.05359	0.563000	0.77884	CGT	CCL14	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000213494		0.557	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL14	HGNC	protein_coding	OTTHUMT00000272892.2	-	0	49	0	C	NM_032962		34311431	-1	tier1	rs144903710	no_errors	ENST00000435911	ensembl	human	known	74_37	missense	53.95	35	41	SNP	0.000	T	T	34311431	C	T	34311431	3	4	52	1	0	0	0	0	1	0	0	0	2892	536	19	1	152	1	CCL14	17	34311431	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	854121	34311431	46883779	715	13055											
FBXO47	494188	genome.wustl.edu	37	chr17	37093481	37093483	+	In_Frame_Del	DEL	TAG	TAG	-																															caggacctccttatggaagtTagcctgagcatgtacaagat																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TAG	TAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:37093481_37093483delTAG	ENST00000378079.2	-	11	1503_1505	c.1304_1306delCTA	c.(1303-1308)gctaac>gac	p.435_436AN>D		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	435										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TTATGGAAGTTAGCCTGAGCATG	0.404																																																	0																																										SO:0001651	inframe_deletion	0				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.1304_1306delCTA	17.37:g.37093481_37093483delTAG	ENSP00000367319:p.Ala435_Asn436delinsAsp		B2RTZ4	In_Frame_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.AN435in_frame_delD	ENST00000378079.2	37	c.1306_1304	CCDS32639.1	17																																																																																			FBXO47	-	NULL	ENSG00000204952		0.404	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1		0	22	0	TAG	NM_001008777		37093483	-1	tier1		no_errors	ENST00000378079	ensembl	human	known	74_37	in_frame_del	30.95	29	13	DEL	1.000:0.998:1.000	-	-	37093483	TAG	-	37093481	7	5	52	1	0	1	0	1	0	0	0	0	5778	1754	61	0	56	0	FBXO47	17	37093481	In_Frame_Del	DEL	TAG	TCGA-L5-A43J-01A-12D-A247-09	2782050	37093481	44101729	716	13056											
CDK12	51755	genome.wustl.edu	37	chr17	37667792	37667795	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															tatatttcagtcgcccttacAcaaacaaagtcattactttg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	ACAA	ACAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:37667792_37667795delACAA	ENST00000447079.4	+	8	2710_2713	c.2677_2680delACAA	c.(2677-2682)acaaacfs	p.TN893fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.TN893fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	893	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCGCCCTTACACAAACAAAGTCAT	0.397			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0																																										SO:0001589	frameshift_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2677_2680delACAA	17.37:g.37667796_37667799delACAA	ENSP00000398880:p.Thr893fs		A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N894fs	ENST00000447079.4	37	c.2677_2680	CCDS11337.1	17																																																																																			CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.397	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4		0	32	0	ACAA	NM_016507		37667795	1	tier1		no_errors	ENST00000447079	ensembl	human	known	74_37	frame_shift_del	35.48	20	11	DEL	1.000:1.000:1.000:1.000	-	-	37667795	ACAA	-	37667792	7	5	52	1	0	1	0	1	0	0	0	0	3135	159	6	0	2707	0	CDK12	17	37667792	Frame_Shift_Del	DEL	ACAA	TCGA-L5-A43J-01A-12D-A247-09	574311	37667792	43527418	717	13057											
CSF3	1440	genome.wustl.edu	37	chr17	38171995	38171995	+	Frame_Shift_Del	DEL	C	C	-																															ctggacagtgcaggaagccaCccccctgggccctgccagct																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:38171995delC	ENST00000225474.2	+	2	123	c.92delC	c.(91-93)accfs	p.T31fs	RP11-387H17.6_ENST00000583462.1_lincRNA|CSF3_ENST00000394148.3_Frame_Shift_Del_p.T31fs|CSF3_ENST00000394149.3_Frame_Shift_Del_p.T31fs|CSF3_ENST00000331769.2_Frame_Shift_Del_p.T27fs|CSF3_ENST00000577675.1_Frame_Shift_Del_p.T27fs			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	31					cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|granulocyte differentiation (GO:0030851)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of neuron death (GO:1901215)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|enzyme binding (GO:0019899)|granulocyte colony-stimulating factor receptor binding (GO:0005130)			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)				CAGGAAGCCACCCCCCTGGGC	0.642																																																	0													25	25	25					17																	38171995		2201	4297	6498	SO:0001589	frameshift_variant	0				CCDS11357.1, CCDS11358.1, CCDS42314.1, CCDS11358.2	17q11.2-q12	2014-01-30			ENSG00000108342	ENSG00000108342		"Endogenous ligands"	2438	protein-coding gene	gene with protein product	"granulocyte colony stimulating factor", "pluripoietin", "filgrastim", "lenograstim"	138970	"chromosome 17 open reading frame 33"	GCSF, G-CSF, C17orf33		3499671, 3501046	Standard	NM_000759		Approved	MGC45931	uc002htp.3	P09919	OTTHUMG00000133247	ENST00000225474.2:c.92delC	17.37:g.38171995delC	ENSP00000225474:p.Thr31fs		A8MXR7	Frame_Shift_Del	DEL	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,pirsf_IL-6/IL-23/GCSF/MGF,prints_IL-6/IL-23/GCSF/MGF	p.L33fs	ENST00000225474.2	37	c.92	CCDS11357.1	17																																																																																			CSF3	-	pirsf_IL-6/IL-23/GCSF/MGF	ENSG00000108342		0.642	CSF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSF3	HGNC	protein_coding	OTTHUMT00000256988.2		0	27	0	C	NM_172220		38171995	1	tier1		no_errors	ENST00000225474	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	0.000	-	-	38171995	C	-	38171995	7	5	52	1	0	1	0	1	0	0	0	0	3945	507	18	0	98	0	CSF3	17	38171995	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	504203	38171995	43023215	718	13058											
KRT25	147183	genome.wustl.edu	37	chr17	38911154	38911154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtcatgatcaagaccacGgcaagagccaggcccaaatt	15	6	9	11	1	2	3	2	1	0	2	2	3	2	3	3	2	1	1	3	2	4	2	rs370147296		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:38911154G>A	ENST00000312150.4	-	1	430	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCAAGACCACGGCAAGAGCCA	0.448																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	118	113	115		370	3.7	1	17		115	0,8600		0,0,4300	no	missense	KRT25	NM_181534.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	124/451	38911154	1,13005	2203	4300	6503	SO:0001583	missense	0			AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"-", "Intermediate filaments type I, keratins (acidic)"	30839	protein-coding gene	gene with protein product			"keratin 25A"	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.370C>T	17.37:g.38911154G>A	ENSP00000310573:p.Arg124Cys			Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R124C	ENST00000312150.4	37	c.370	CCDS11373.1	17	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576275	0.65878	2.27E-4	0.0	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.89617	-2.54	5.76	3.71	0.42584	Filament (1);	0.000000	0.64402	D	0.000008	D	0.88771	0.6527	M	0.82323	2.585	0.44719	D	0.997717	B	0.24920	0.114	B	0.24269	0.052	D	0.85520	0.1203	10	0.54805	T	0.06	.	11.4763	0.50300	0.0:0.0:0.6805:0.3195	.	124	Q7Z3Z0	K1C25_HUMAN	C	124	ENSP00000310573:R124C	ENSP00000310573:R124C	R	-	1	0	KRT25	36164680	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.188000	0.17018	0.733000	0.32492	0.655000	0.94253	CGT	KRT25	-	pfam_IF	ENSG00000204897		0.448	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT25	HGNC	protein_coding	OTTHUMT00000257218.1	-	0	43	0	G	NM_181534		38911154	-1	tier1	-	no_errors	ENST00000312150	ensembl	human	known	74_37	missense	46.77	33	29	SNP	1.000	A	A	38911154	G	A	38911154	3	1	52	1	0	0	0	0	1	0	0	0	8489	1116	39	1	1014	1	KRT25	17	38911154	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	739159	38911154	42284056	719	13059											
KRT35	3886	genome.wustl.edu	37	chr17	39633867	39633867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtactcctggttctgccGctccaggtcagcccggatct	4	11	11	15	2	3	0	1	0	2	0	5	1	5	1	4	4	3	3	4	4	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:39633867G>A	ENST00000393989.1	-	6	1165	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	KRT35_ENST00000246639.2_Missense_Mutation_p.R345W	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	375	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R375W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				TGGTTCTGCCGCTCCAGGTCA	0.652																																																	1	Substitution - Missense(1)	lung(1)											66	65	65					17																	39633867		2203	4300	6503	SO:0001583	missense	0			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"-", "Intermediate filaments type I, keratins (acidic)"	6453	protein-coding gene	gene with protein product	"hard keratin type I 5"	602764	"keratin, hair, acidic, 5"	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1123C>T	17.37:g.39633867G>A	ENSP00000377558:p.Arg375Trp		O76012|Q92651	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R375W	ENST00000393989.1	37	c.1123	CCDS11394.2	17	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598254	0.66332	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.90444	-2.67;-2.67	4.95	2.92	0.33932	Filament (1);	0.000000	0.56097	D	0.000034	D	0.95765	0.8622	H	0.96048	3.76	0.39007	D	0.959469	D	0.89917	1.0	D	0.97110	1.0	D	0.93823	0.7120	10	0.87932	D	0	.	4.6448	0.12566	0.1626:0.0:0.4112:0.4262	.	375	Q92764	KRT35_HUMAN	W	345;375	ENSP00000246639:R345W;ENSP00000377558:R375W	ENSP00000246639:R345W	R	-	1	2	KRT35	36887393	0.150000	0.22732	1.000000	0.80357	0.825000	0.46686	0.469000	0.22067	0.648000	0.30732	0.563000	0.77884	CGG	KRT35	-	pfam_IF	ENSG00000197079		0.652	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		-	0	53	0	G	NM_002280		39633867	-1	tier1	-	no_errors	ENST00000393989	ensembl	human	known	74_37	missense	24.36	58	19	SNP	1.000	A	A	39633867	G	A	39633867	3	1	52	1	0	0	0	0	1	0	0	0	8499	1086	38	1	252	1	KRT35	17	39633867	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	722713	39633867	41561343	720	13060											
KAT2A	2648	genome.wustl.edu	37	chr17	40270397	40270399	+	In_Frame_Del	DEL	CTC	CTC	-																															ggagagtttgccccatagatCtcctcctccagcatggacag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:40270397_40270399delCTC	ENST00000225916.5	-	7	1149_1151	c.1096_1098delGAG	c.(1096-1098)gagdel	p.E366del		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	366					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCCATAGATCTCCTCCTCCAGC	0.601																																																	0																																										SO:0001651	inframe_deletion	0			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1096_1098delGAG	17.37:g.40270403_40270405delCTC	ENSP00000225916:p.Glu366del		Q8N1A2|Q9UCW1	In_Frame_Del	DEL	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.E366in_frame_del	ENST00000225916.5	37	c.1098_1096	CCDS11417.1	17																																																																																			KAT2A	-	pirsf_Hist_acetylase_PCAF	ENSG00000108773		0.601	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1		0	29	0	CTC	NM_021078		40270399	-1	tier1		no_errors	ENST00000225916	ensembl	human	known	74_37	in_frame_del	20.00	32	8	DEL	1.000:1.000:1.000	-	-	40270399	CTC	-	40270397	7	5	52	1	0	1	0	1	0	0	0	0	8008	912	32	0	1463	0	KAT2A	17	40270397	In_Frame_Del	DEL	CTC	TCGA-L5-A43J-01A-12D-A247-09	636530	40270397	40924813	721	13061											
KCNH4	23415	genome.wustl.edu	37	chr17	40315711	40315711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagagcacctgggggggCcgtgaggggaggcactgtgg	7	4	21	9	1	0	2	0	1	0	1	0	3	0	3	2	7	2	3	2	7	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:40315711C>G	ENST00000264661.3	-	13	2722	c.2390G>C	c.(2389-2391)gGc>gCc	p.G797A	KCNH4_ENST00000607371.1_Missense_Mutation_p.G797A	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	797			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTGGGGGGGCCGTGAGGGGA	0.667																																					NSCLC(117;707 1703 2300 21308 31858)												0													12	15	14					17																	40315711		2163	4187	6350	SO:0001583	missense	0			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2390G>C	17.37:g.40315711C>G	ENSP00000264661:p.Gly797Ala			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G797A	ENST00000264661.3	37	c.2390	CCDS11420.1	17	.	.	.	.	.	.	.	.	.	.	C	0.100	-1.153254	0.01700	.	.	ENSG00000089558	ENST00000264661	D	0.98633	-5.04	4.32	0.942	0.19525	.	1.392810	0.05456	U	0.550307	D	0.92773	0.7702	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.89008	0.3426	10	0.02654	T	1	.	2.7176	0.05192	0.1404:0.5205:0.1546:0.1845	.	797	Q9UQ05	KCNH4_HUMAN	A	797	ENSP00000264661:G797A	ENSP00000264661:G797A	G	-	2	0	KCNH4	37569237	0.000000	0.05858	0.020000	0.16555	0.146000	0.21551	-0.048000	0.11944	0.453000	0.26858	0.484000	0.47621	GGC	KCNH4	-	NULL	ENSG00000089558		0.667	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	KCNH4	HGNC	protein_coding	OTTHUMT00000449791.2	-	0	22	0	C	NM_012285		40315711	-1	tier1	-	no_errors	ENST00000264661	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.000	G	G	40315711	C	G	40315711	3	3	52	1	0	0	0	0	1	0	0	0	8061	739	26	5	679	5	KCNH4	17	40315711	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	45314	40315711	40879499	722	13062											
MPP2	4355	genome.wustl.edu	37	chr17	41958085	41958085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgccatagcgatctGgatcccacatgatgagcttg	8	10	12	11	2	1	2	0	2	1	0	2	4	2	3	3	2	3	1	3	2	1	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:41958085G>A	ENST00000461854.1	-	11	1281	c.1196C>T	c.(1195-1197)cCa>cTa	p.P399L	MPP2_ENST00000520305.1_Missense_Mutation_p.P236L|MPP2_ENST00000523501.1_Missense_Mutation_p.P364L|MPP2_ENST00000377184.3_Missense_Mutation_p.P392L|MPP2_ENST00000536246.1_Missense_Mutation_p.P364L|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.P420L|MPP2_ENST00000269095.4_Missense_Mutation_p.P375L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	399	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ATAGCGATCTGGATCCCACAT	0.672											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													102	92	96					17																	41958085		2203	4300	6503	SO:0001583	missense	0				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"MAGUK p55 subfamily member 2", "discs large, homolog 2"	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1196C>T	17.37:g.41958085G>A	ENSP00000428286:p.Pro399Leu	905	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P399L	ENST00000461854.1	37	c.1196		17	.	.	.	.	.	.	.	.	.	.	g	21.7	4.194639	0.78902	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.02	3.93	0.45458	.	.	.	.	.	T	0.49745	0.1575	M	0.91920	3.255	0.58432	D	0.999999	D;D	0.54397	0.959;0.966	P;P	0.62184	0.864;0.899	T	0.59600	-0.7424	9	0.87932	D	0	.	11.9462	0.52930	0.0:0.0:0.788:0.212	.	420;392	E7EV80;Q14168-3	.;.	L	392;375;399;236;364;364;420	ENSP00000366389:P392L;ENSP00000269095:P375L;ENSP00000428286:P399L;ENSP00000428136:P236L;ENSP00000430540:P364L;ENSP00000438012:P364L;ENSP00000428182:P420L	ENSP00000269095:P375L	P	-	2	0	MPP2	39313611	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	3.500000	0.53318	2.511000	0.84671	0.485000	0.47835	CCA	MPP2	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000108852		0.672	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	-	0	28	0	G	NM_005374		41958085	-1	tier1	-	no_errors	ENST00000461854	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.984	A	A	41958085	G	A	41958085	3	1	52	1	0	0	0	0	1	0	0	0	9772	1348	47	3	550	3	MPP2	17	41958085	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1642374	41958085	39237125	723	13063											
ASB16	92591	genome.wustl.edu	37	chr17	42249535	42249535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgagctggatgcccgtgtCgggggtcgcgctgccttgca	3	9	17	12	4	0	1	0	1	0	0	2	2	0	2	2	3	4	4	2	3	0	1	rs373603799		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:42249535C>T	ENST00000293414.1	+	2	507	c.423C>T	c.(421-423)gtC>gtT	p.V141V		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	141					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATGCCCGTGTCGGGGGTCGCG	0.642																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	72	66	68		423	-10.9	0	17		68	0,8600		0,0,4300	no	coding-synonymous	ASB16	NM_080863.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		141/454	42249535	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"Ankyrin repeat domain containing"	19768	protein-coding gene	gene with protein product		615056	"ankyrin repeat and SOCS box-containing 16"			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.423C>T	17.37:g.42249535C>T			B2RBC0|Q8WXK0	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.V141	ENST00000293414.1	37	c.423	CCDS11478.1	17																																																																																			ASB16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000161664		0.642	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	HGNC	protein_coding	OTTHUMT00000457703.1	-	0	28	0	C			42249535	1	tier1	-	no_errors	ENST00000293414	ensembl	human	known	74_37	silent	28.30	38	15	SNP	0.000	T	T	42249535	C	T	42249535	2	4	52	1	0	0	0	0	0	0	0	1	1021	871	31	1		1	ASB16	17	42249535	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	291450	42249535	38945675	724	13064											
MRPL10	124995	genome.wustl.edu	37	chr17	45906019	45906019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccatagcggacagtctGgagggtaggcagccggcctg	8	5	18	10	2	1	0	0	0	1	0	1	3	1	3	3	6	3	2	3	6	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:45906019G>T	ENST00000351111.2	-	2	75	c.70C>A	c.(70-72)Cag>Aag	p.Q24K	LRRC46_ENST00000269025.4_5'Flank|MRPL10_ENST00000414011.1_Missense_Mutation_p.Q34K|MRPL10_ENST00000290208.7_Missense_Mutation_p.Q34K	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	24					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						CGGACAGTCTGGAGGGTAGGC	0.552																																																	0													44	38	40					17																	45906019		2203	4300	6503	SO:0001583	missense	0			AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"Mitochondrial ribosomal proteins / large subunits"	14055	protein-coding gene	gene with protein product	"39S ribosomal protein L10, mitochondrial"	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.70C>A	17.37:g.45906019G>T	ENSP00000324100:p.Gln24Lys		A6NGJ4|Q96B80|Q96Q55	Missense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0	p.Q24K	ENST00000351111.2	37	c.70	CCDS11516.1	17	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813536	0.70912	.	.	ENSG00000159111	ENST00000351111;ENST00000290208;ENST00000414011	T;T;T	0.51071	0.72;2.31;2.31	5.32	5.32	0.75619	.	0.124032	0.56097	D	0.000023	T	0.49474	0.1559	M	0.70595	2.14	0.80722	D	1	B;B	0.31227	0.136;0.314	B;B	0.24848	0.056;0.041	T	0.53549	-0.8423	10	0.56958	D	0.05	-5.155	17.7669	0.88481	0.0:0.0:1.0:0.0	.	24;34	Q7Z7H8;A6NGJ4	RM10_HUMAN;.	K	24;34;34	ENSP00000324100:Q24K;ENSP00000290208:Q34K;ENSP00000395870:Q34K	ENSP00000290208:Q34K	Q	-	1	0	MRPL10	43261018	1.000000	0.71417	0.990000	0.47175	0.881000	0.50899	8.905000	0.92613	2.502000	0.84385	0.561000	0.74099	CAG	MRPL10	-	NULL	ENSG00000159111		0.552	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL10	HGNC	protein_coding	OTTHUMT00000343764.1	-	0	31	0	G	NM_145255		45906019	-1	tier1	-	no_errors	ENST00000351111	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	45906019	G	T	45906019	3	4	52	1	0	0	0	0	1	0	0	0	9813	1357	47	3	731	3	MRPL10	17	45906019	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3656484	45906019	35289191	725	13065											
SP2	6668	genome.wustl.edu	37	chr17	46000463	46000463	+	Frame_Shift_Del	DEL	A	A	-																															cccatctgagtgggaccagcAaaaagcactcagctgcaatt																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:46000463delA	ENST00000376741.4	+	4	1332	c.1195delA	c.(1195-1197)aaafs	p.K400fs	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	400					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGGGACCAGCAAAAAGCACTC	0.602																																																	0													89	78	82					17																	46000463		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1195delA	17.37:g.46000463delA	ENSP00000365931:p.Lys400fs		A6NK74	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K400fs	ENST00000376741.4	37	c.1195	CCDS11521.2	17																																																																																			SP2	-	NULL	ENSG00000167182		0.602	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP2	HGNC	protein_coding	OTTHUMT00000316777.1		0	27	0	A	NM_003110		46000463	1	tier1		no_errors	ENST00000376741	ensembl	human	known	74_37	frame_shift_del	32.50	27	13	DEL	1.000	-	-	46000463	A	-	46000463	7	5	52	1	0	1	0	1	0	0	0	0	15009	131	5	0	1209	0	SP2	17	46000463	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	94444	46000463	35194747	726	13066											
HOXB3	3213	genome.wustl.edu	37	chr17	46628044	46628044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtacttctgcggggcGccgcagcctttgagaggggg	5	7	20	9	3	1	1	0	1	1	1	1	3	1	2	2	6	3	2	2	6	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:46628044G>A	ENST00000470495.1	-	2	2395	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_ENST00000311626.4_Silent_p.G316G|HOXB3_ENST00000498678.1_Silent_p.G316G|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_Silent_p.G184G|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.G243G|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Silent_p.G182G|HOXB3_ENST00000476342.1_Silent_p.G316G|HOXB3_ENST00000460160.1_Silent_p.G184G|HOXB3_ENST00000489475.1_Silent_p.G243G			P14651	HXB3_HUMAN	homeobox B3	316					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCGGGGCGCCGCAGCCTT	0.697											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37	47	44					17																	46628044		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"Homeoboxes / ANTP class : HOXL subclass"	5114	protein-coding gene	gene with protein product		142966	"homeo box B3"	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.948C>T	17.37:g.46628044G>A		940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G316	ENST00000470495.1	37	c.948	CCDS11528.1	17																																																																																			HOXB3	-	NULL	ENSG00000120093		0.697	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	-	0	37	0	G			46628044	-1	tier1	-	no_errors	ENST00000311626	ensembl	human	known	74_37	silent	26.87	49	18	SNP	0.998	A	A	46628044	G	A	46628044	2	1	52	1	0	0	0	0	0	0	0	1	7329	1074	38	1		1	HOXB3	17	46628044	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	627581	46628044	34567166	727	13067											
CACNA1G	8913	genome.wustl.edu	37	chr17	48701760	48701760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagccagcagataccaGctacatcctgcagcttccca	10	7	6	18	0	0	1	0	0	0	1	3	1	3	1	5	0	7	4	5	0	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:48701760G>T	ENST00000359106.5	+	37	6269	c.6269G>T	c.(6268-6270)aGc>aTc	p.S2090I	CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1972I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2056I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1974I|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2045I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S1963I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2034I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2027I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1940I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2004I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2079I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1963I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2000I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1952I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1997I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1986I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2011I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1945I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1956I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1963I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1986I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1979I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1997I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1990I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2019I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2090					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCAGATACCAGCTACATCCTG	0.647																																																	0													32	32	32					17																	48701760		2004	4172	6176	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6269G>T	17.37:g.48701760G>T	ENSP00000352011:p.Ser2090Ile		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.S2090I	ENST00000359106.5	37	c.6269	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	18.52	3.642424	0.67244	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97303	-4.21;-4.2;-4.15;-4.21;-4.23;-4.23;-4.33;-4.29;-4.3;-4.32;-4.2;-4.17;-4.28;-4.2;-4.17;-4.24;-4.2;-4.2;-4.24;-4.16;-4.18;-4.23;-4.19;-4.19;-4.18	5.53	5.53	0.82687	.	22.621500	0.00166	N	0.000000	D	0.97776	0.9270	L	0.48642	1.525	0.37694	D	0.923947	D;B;D;D;P;P;D;D;D;B;D;B;B;P;D;B;D;P;P;P;D;P;D;P;P	0.71674	0.998;0.399;0.998;0.998;0.92;0.949;0.996;0.988;0.996;0.399;0.978;0.438;0.399;0.731;0.983;0.263;0.992;0.713;0.865;0.955;0.998;0.836;0.978;0.731;0.877	D;B;D;D;P;P;D;P;D;B;P;B;B;P;D;B;P;P;P;P;D;B;P;P;B	0.85130	0.988;0.194;0.997;0.991;0.623;0.778;0.991;0.905;0.991;0.194;0.828;0.36;0.194;0.451;0.914;0.15;0.84;0.513;0.52;0.638;0.988;0.418;0.828;0.451;0.276	D	0.91002	0.4843	10	0.22706	T	0.39	.	10.0042	0.41946	0.1496:0.0:0.8504:0.0	.	1940;1952;1945;2027;2000;1972;2004;1963;1990;1986;1997;2019;1986;2079;1979;2034;1997;2067;2045;1963;1956;2011;1974;2090;1963	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	I	1974;1963;2056;1956;2019;1986;1952;1940;1945;1963;2045;2079;2000;1990;2011;1997;1972;2034;2004;1963;2090;1979;2027;1997;1986	ENSP00000353990:S1974I;ENSP00000339302:S1963I;ENSP00000347078:S2056I;ENSP00000409759:S1956I;ENSP00000425522:S2019I;ENSP00000426261:S1986I;ENSP00000425451:S1952I;ENSP00000422407:S1940I;ENSP00000426814:S1945I;ENSP00000427238:S1963I;ENSP00000423112:S2045I;ENSP00000420918:S2079I;ENSP00000426172:S2000I;ENSP00000423045:S1990I;ENSP00000427173:S2011I;ENSP00000426098:S1997I;ENSP00000425698:S1972I;ENSP00000426232:S2034I;ENSP00000423317:S2004I;ENSP00000350979:S1963I;ENSP00000352011:S2090I;ENSP00000414388:S1979I;ENSP00000423155:S2027I;ENSP00000422268:S1997I;ENSP00000421518:S1986I	ENSP00000339302:S1963I	S	+	2	0	CACNA1G	46056759	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.018000	0.40991	2.596000	0.87737	0.561000	0.74099	AGC	CACNA1G	-	NULL	ENSG00000006283		0.647	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1		0	25	0	G	NM_018896		48701760	1			no_errors	ENST00000359106	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	48701760	G	T	48701760	3	4	52	1	0	0	0	0	1	0	0	0	2551	971	34	3	6682	3	CACNA1G	17	48701760	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2073716	48701760	32493450	728	13068											
SCPEP1	59342	genome.wustl.edu	37	chr17	55058513	55058513	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacggtccgcaaggatgcCtacatgttctggtggctcta	7	11	13	10	2	2	1	0	1	2	0	3	2	3	2	2	4	2	3	2	4	3	3	rs376140010		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:55058513C>A	ENST00000262288.3	+	2	202	c.147C>A	c.(145-147)gcC>gcA	p.A49A	SCPEP1_ENST00000571898.1_3'UTR|RP5-1107A17.4_ENST00000572877.1_RNA	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	49					negative regulation of blood pressure (GO:0045776)|positive regulation of vasodilation (GO:0045909)|retinoic acid metabolic process (GO:0042573)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.A49A(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GCAAGGATGCCTACATGTTCT	0.512																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	145	117	126		147	-5.2	1	17		126	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCPEP1	NM_021626.2		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		49/453	55058513	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF282618	CCDS11593.1	17q22	2012-09-20			ENSG00000121064	ENSG00000121064			29507	protein-coding gene	gene with protein product	"retinoid inducible serine carboxypeptidase"					11447226, 12975309	Standard	NM_021626		Approved	RISC	uc002iuv.4	Q9HB40	OTTHUMG00000178129	ENST00000262288.3:c.147C>A	17.37:g.55058513C>A			Q96A94|Q9H3F0	Missense_Mutation	SNP	NULL	p.L38I	ENST00000262288.3	37	c.112	CCDS11593.1	17																																																																																			SCPEP1	-	NULL	ENSG00000121064		0.512	SCPEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCPEP1	HGNC	protein_coding	OTTHUMT00000440622.1	-	0	50	0	C	NM_021626		55058513	1	tier1	-	no_errors	ENST00000575423	ensembl	human	known	74_37	missense	42.50	46	34	SNP	0.011	A	A	55058513	C	A	55058513	2	1	52	1	0	0	0	0	0	0	0	1	13980	668	24	3		3	SCPEP1	17	55058513	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	6356753	55058513	26136697	729	13069											
RNF43	54894	genome.wustl.edu	37	chr17	56440667	56440667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcagctcaatcctcAcatgggccttttggttcttg	5	15	8	13	0	4	0	3	0	1	0	6	0	6	0	3	2	1	3	3	2	1	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:56440667A>G	ENST00000584437.1	-	4	2506	c.551T>C	c.(550-552)gTg>gCg	p.V184A	RNF43_ENST00000577625.1_Missense_Mutation_p.V57A|RNF43_ENST00000577716.1_Missense_Mutation_p.V184A|RNF43_ENST00000583753.1_Missense_Mutation_p.V143A|RNF43_ENST00000581868.1_Missense_Mutation_p.V57A|RNF43_ENST00000500597.2_Missense_Mutation_p.V143A|RNF43_ENST00000407977.2_Missense_Mutation_p.V184A|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	184					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAATCCTCACATGGGCCTT	0.572																																																	0													120	119	120					17																	56440667		2203	4300	6503	SO:0001583	missense	0				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.551T>C	17.37:g.56440667A>G	ENSP00000463069:p.Val184Ala		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.V184A	ENST00000584437.1	37	c.551	CCDS11607.1	17	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114950	0.77210	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.09630	3.11;2.96	5.68	5.68	0.88126	.	0.137942	0.48286	D	0.000181	T	0.10680	0.0261	N	0.04508	-0.205	0.51482	D	0.999926	P;P;P	0.40000	0.698;0.623;0.642	P;P;B	0.52881	0.712;0.573;0.297	T	0.49969	-0.8882	10	0.14656	T	0.56	-4.671	15.0991	0.72258	1.0:0.0:0.0:0.0	.	143;184;184	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	A	184;143	ENSP00000385328:V184A;ENSP00000441969:V143A	ENSP00000385328:V184A	V	-	2	0	RNF43	53795666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.454000	0.90352	2.167000	0.68274	0.482000	0.46254	GTG	RNF43	-	NULL	ENSG00000108375		0.572	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0	34	0	A	NM_017763		56440667	-1	tier1	-	no_errors	ENST00000407977	ensembl	human	known	74_37	missense	25.81	45	16	SNP	1.000	G	G	56440667	A	G	56440667	3	3	52	1	0	0	0	0	1	0	0	0	13540	159	6	4	1824	4	RNF43	17	56440667	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	1382154	56440667	24754543	730	13070											
SMARCD2	6603	genome.wustl.edu	37	chr17	61911556	61911556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaacggttgcagttgatgtActcccgctcgtgcccatcct	6	12	10	13	3	0	1	0	1	0	0	3	1	2	1	3	1	4	6	3	1	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:61911556A>G	ENST00000448276.2	-	8	1319	c.1054T>C	c.(1054-1056)Tac>Cac	p.Y352H	SMARCD2_ENST00000225742.9_Missense_Mutation_p.Y277H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.Y304H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	352	SWIB.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CAGTTGATGTACTCCCGCTCG	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													37	37	37					17																	61911556		2101	4220	6321	SO:0001583	missense	0			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1054T>C	17.37:g.61911556A>G	ENSP00000392617:p.Tyr352His	1057	A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.Y352H	ENST00000448276.2	37	c.1054	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	6.982	0.551220	0.13374	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.45668	0.89;0.91	5.44	5.44	0.79542	SWIB/MDM2 domain (2);	0.109676	0.64402	D	0.000004	T	0.35158	0.0922	L	0.42245	1.32	0.58432	D	0.999997	B;B;B	0.14805	0.004;0.011;0.011	B;B;B	0.23852	0.003;0.037;0.049	T	0.25710	-1.0124	10	0.59425	D	0.04	-11.8023	7.9667	0.30102	0.9115:0.0:0.0885:0.0	.	304;315;352	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	H	352;294;315;304	ENSP00000392617:Y352H;ENSP00000318451:Y304H	ENSP00000225742:Y294H	Y	-	1	0	SMARCD2	59265288	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	7.383000	0.79741	2.288000	0.76882	0.533000	0.62120	TAC	SMARCD2	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	ENSG00000108604		0.602	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	-	0	12	0	A	NM_001098426		61911556	-1	tier1	-	no_errors	ENST00000448276	ensembl	human	known	74_37	missense	38.10	12	8	SNP	1.000	G	G	61911556	A	G	61911556	3	3	52	1	0	0	0	0	1	0	0	0	14823	391	14	4	565	4	SMARCD2	17	61911556	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	5470889	61911556	19283654	731	13071											
APOH	350	genome.wustl.edu	37	chr17	64224221	64224221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgggacacatagcccGgcttgcaggaatacgtaatc	10	8	10	13	3	0	0	0	0	0	0	3	2	1	2	2	3	3	3	2	3	4	4	rs371962881		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:64224221G>A	ENST00000205948.6	-	2	195	c.158C>T	c.(157-159)cCg>cTg	p.P53L		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	53	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CACATAGCCCGGCTTGCAGGA	0.478																																					Melanoma(155;624 1882 16869 48804 51309)												0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	207	188	195		158	4.7	1	17		195	0,8600		0,0,4300	no	missense	APOH	NM_000042.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	53/346	64224221	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.158C>T	17.37:g.64224221G>A	ENSP00000205948:p.Pro53Leu		B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P53L	ENST00000205948.6	37	c.158	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690350	0.48097	2.27E-4	0.0	ENSG00000091583	ENST00000205948	T	0.66099	-0.19	5.67	4.7	0.59300	Complement control module (2);Sushi/SCR/CCP (3);	0.175537	0.51477	D	0.000081	T	0.75613	0.3873	M	0.79805	2.47	0.51233	D	0.999919	D	0.76494	0.999	P	0.57502	0.822	T	0.79541	-0.1761	10	0.62326	D	0.03	.	13.9559	0.64147	0.0:0.1521:0.8479:0.0	.	53	P02749	APOH_HUMAN	L	53	ENSP00000205948:P53L	ENSP00000205948:P53L	P	-	2	0	APOH	61654683	0.997000	0.39634	0.956000	0.39512	0.139000	0.21198	3.766000	0.55280	1.388000	0.46506	0.650000	0.86243	CCG	APOH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000091583		0.478	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	-	0	64	0	G	NM_000042		64224221	-1	tier1	-	no_errors	ENST00000205948	ensembl	human	known	74_37	missense	54.29	32	38	SNP	0.985	A	A	64224221	G	A	64224221	3	1	52	1	0	0	0	0	1	0	0	0	804	1116	39	1	907	1	APOH	17	64224221	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2312665	64224221	16970989	732	13072											
PSMD12	5718	genome.wustl.edu	37	chr17	65337163	65337163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttgagagaaaggcttcGgactcctgcaagagagaaag	15	7	13	6	1	0	5	0	1	0	4	2	8	1	6	1	2	1	2	1	2	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:65337163G>A	ENST00000356126.3	-	11	1274	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	PSMD12_ENST00000357146.4_Silent_p.S369S	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	389	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAAGGCTTCGGACTCCTGCA	0.358																																																	0													53	54	54					17																	65337163		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1167C>T	17.37:g.65337163G>A			A6NP15|Q53HA2|Q6P053	Silent	SNP	pfam_PCI_dom,smart_PCI_dom	p.S389	ENST00000356126.3	37	c.1167	CCDS11669.1	17																																																																																			PSMD12	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000197170		0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD12	HGNC	protein_coding	OTTHUMT00000277103.1	-	0	31	0	G	NM_002816, NM_174871		65337163	-1	tier1	-	no_errors	ENST00000356126	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.976	A	A	65337163	G	A	65337163	2	1	52	1	0	0	0	0	0	0	0	1	12737	1103	39	1		1	PSMD12	17	65337163	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1112942	65337163	15858047	733	13073											
TTYH2	94015	genome.wustl.edu	37	chr17	72248476	72248476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgccttctccaccatgaTctgtgcagggccaagggcct	6	9	10	16	1	2	1	0	1	2	0	4	1	2	1	6	2	1	1	6	2	1	1	rs367606811		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:72248476T>C	ENST00000269346.4	+	11	1294	c.1220T>C	c.(1219-1221)aTc>aCc	p.I407T	TTYH2_ENST00000441391.2_Missense_Mutation_p.I86T|TTYH2_ENST00000529107.1_Missense_Mutation_p.I386T	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	407						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TCCACCATGATCTGTGCAGGG	0.622																																																	0													75	62	66					17																	72248476		2203	4300	6503	SO:0001583	missense	0				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"tweety (Drosophila) homolog 2", "tweety homolog 2 (Drosophila)"			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1220T>C	17.37:g.72248476T>C	ENSP00000269346:p.Ile407Thr		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	pfam_Tweety	p.I407T	ENST00000269346.4	37	c.1220	CCDS32717.1	17	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209383	0.39003	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.13089	2.62;2.62;2.62	5.79	4.72	0.59763	.	0.326391	0.34802	N	0.003670	T	0.12860	0.0312	L	0.43701	1.375	0.35704	D	0.815837	B;B	0.19200	0.034;0.005	B;B	0.22152	0.038;0.033	T	0.10706	-1.0618	10	0.33141	T	0.24	-27.5609	10.1657	0.42879	0.0:0.0802:0.0:0.9198	.	386;407	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	T	407;386;86	ENSP00000269346:I407T;ENSP00000433089:I386T;ENSP00000394576:I86T	ENSP00000269346:I407T	I	+	2	0	TTYH2	69760071	1.000000	0.71417	0.937000	0.37676	0.487000	0.33371	4.629000	0.61290	1.026000	0.39733	0.533000	0.62120	ATC	TTYH2	-	pfam_Tweety	ENSG00000141540		0.622	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TTYH2	HGNC	protein_coding	OTTHUMT00000387459.1	-	0	48	0	T			72248476	1	tier1	-	no_errors	ENST00000269346	ensembl	human	known	74_37	missense	45.90	33	28	SNP	1.000	C	C	72248476	T	C	72248476	3	2	52	1	0	0	0	0	1	0	0	0	16789	1435	50	4	1262	4	TTYH2	17	72248476	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	6911313	72248476	8946734	734	13074											
GPR142	350383	genome.wustl.edu	37	chr17	72363813	72363813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccattccaggtggctgAggtctccacaggtcacaggg	8	8	13	12	0	3	1	2	1	1	0	5	1	4	1	3	5	1	1	3	5	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:72363813A>G	ENST00000335666.4	+	1	217	c.169A>G	c.(169-171)Agg>Ggg	p.R57G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	57						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAGGTGGCTGAGGTCTCCACA	0.542																																																	0													80	69	73					17																	72363813		2203	4300	6503	SO:0001583	missense	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.169A>G	17.37:g.72363813A>G	ENSP00000335158:p.Arg57Gly		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R57G	ENST00000335666.4	37	c.169	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063680	0.36373	.	.	ENSG00000257008	ENST00000335666	T	0.72167	-0.63	2.25	-0.171	0.13331	.	.	.	.	.	T	0.46132	0.1377	N	0.08118	0	0.29372	N	0.863915	B	0.06786	0.001	B	0.06405	0.002	T	0.37103	-0.9720	9	0.87932	D	0	.	5.2726	0.15632	0.6904:0.0:0.3096:0.0	.	57	Q7Z601	GP142_HUMAN	G	57	ENSP00000335158:R57G	ENSP00000335158:R57G	R	+	1	2	GPR142	69875408	1.000000	0.71417	0.002000	0.10522	0.246000	0.25737	3.123000	0.50453	-0.205000	0.10219	0.491000	0.48974	AGG	GPR142	-	NULL	ENSG00000257008		0.542	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	-	0	33	0	A	NM_181790		72363813	1	tier1	-	no_errors	ENST00000335666	ensembl	human	known	74_37	missense	60.78	20	31	SNP	1.000	G	G	72363813	A	G	72363813	3	3	52	1	0	0	0	0	1	0	0	0	6676	295	11	4	171	4	GPR142	17	72363813	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	115337	72363813	8831397	735	13075											
GGA3	23163	genome.wustl.edu	37	chr17	73234468	73234470	+	Splice_Site	DEL	CTC	CTC	-																															ttataccgaagccgcaccttCtcctgtgacagagggcagca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:73234468_73234470delCTC	ENST00000245541.6	-	17	2278_2280	c.2062_2064delGAG	c.(2062-2064)gagdel	p.E688del	GGA3_ENST00000538886.1_Splice_Site_p.E566del|GGA3_ENST00000351904.7_Splice_Site_p.E655del|GGA3_ENST00000582486.1_Intron|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Splice_Site_p.E616del	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	688	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GCCGCACCTTCTCCTGTGACAGA	0.611											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001630	splice_region_variant	0			AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.2062-1GAG>-	17.37:g.73234468_73234470delCTC		1143	B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	In_Frame_Del	DEL	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.E688in_frame_del	ENST00000245541.6	37	c.2064_2062	CCDS11717.1	17																																																																																			GGA3	-	pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app	ENSG00000125447		0.611	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA3	HGNC	protein_coding	OTTHUMT00000446645.1		0	25	0	CTC	NM_138619	In_Frame_Del	73234470	-1	tier1		no_errors	ENST00000245541	ensembl	human	known	74_37	in_frame_del	41.86	25	18	DEL	1.000:1.000:1.000	-	-	73234470	CTC	-	73234468	8	5	52	1	0	1	0	1	0	0	1	0	6380	912	32	0	199	0	GGA3	17	73234468	Splice_Site	DEL	CTC	TCGA-L5-A43J-01A-12D-A247-09	870655	73234468	7960742	736	13076											
KIAA0195	9772	genome.wustl.edu	37	chr17	73487189	73487189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggggggacatcgccaacGctgagccacagttccagcct	8	6	12	15	3	0	1	0	1	0	0	3	2	1	2	4	3	3	2	4	3	1	1	rs142602580		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:73487189G>A	ENST00000314256.7	+	12	1582	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	KIAA0195_ENST00000579208.1_Silent_p.T47T|KIAA0195_ENST00000375248.5_Silent_p.T406T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	396						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCGCCAACGCTGAGCCACA	0.637																																																	0													48	46	47					17																	73487189		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.1188G>A	17.37:g.73487189G>A			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.T396	ENST00000314256.7	37	c.1188	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.637	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	-	0	58	0	G	NM_014738		73487189	1	tier1	-	no_errors	ENST00000314256	ensembl	human	known	74_37	silent	31.25	55	25	SNP	0.005	A	A	73487189	G	A	73487189	2	1	52	1	0	0	0	0	0	0	0	1	8187	1074	38	1		1	KIAA0195	17	73487189	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	252721	73487189	7708021	737	13077											
RECQL5	9400	genome.wustl.edu	37	chr17	73623721	73623723	+	In_Frame_Del	DEL	TCT	TCT	-																															accgctccttccaggagaggTcttctgagtcagcaagtgtg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:73623721_73623723delTCT	ENST00000317905.5	-	19	3014_3016	c.2855_2857delAGA	c.(2854-2859)aagacc>acc	p.K952del	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_In_Frame_Del_p.K925del	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	952					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAGGAGAGGTCTTCTGAGTCAG	0.606								Other identified genes with known or suspected DNA repair function																																									0																																										SO:0001651	inframe_deletion	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2855_2857delAGA	17.37:g.73623724_73623726delTCT	ENSP00000317636:p.Lys952del		Q9H0B1|Q9P1W7|Q9UNC8	In_Frame_Del	DEL	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.K952in_frame_del	ENST00000317905.5	37	c.2857_2855	CCDS42380.1	17																																																																																			RECQL5	-	NULL	ENSG00000108469		0.606	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1		0	11	0	TCT	NM_004259		73623723	-1	tier1		no_errors	ENST00000317905	ensembl	human	known	74_37	in_frame_del	29.41	24	10	DEL	0.000:0.005:0.052	-	-	73623723	TCT	-	73623721	7	5	52	1	0	1	0	1	0	0	0	0	13248	1667	58	0	126	0	RECQL5	17	73623721	In_Frame_Del	DEL	TCT	TCGA-L5-A43J-01A-12D-A247-09	136532	73623721	7571489	738	13078											
SEC14L1	6397	genome.wustl.edu	37	chr17	75208083	75208083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacttgggatttcgacGtgtgcaaaggggacattgtg	9	12	13	7	2	2	0	2	0	0	0	3	3	2	2	0	3	1	1	0	3	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:75208083G>A	ENST00000413679.2	+	15	1966	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	SEC14L1_ENST00000591437.1_Missense_Mutation_p.V521M|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V555M|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V555M|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V555M|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V521M|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V555M|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V555M	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	555	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGATTTCGACGTGTGCAAAGG	0.537																																																	0													222	225	224					17																	75208083		2203	4300	6503	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"SEC14 (S. cerevisiae)-like 1"	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1663G>A	17.37:g.75208083G>A	ENSP00000394716:p.Val555Met		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.V555M	ENST00000413679.2	37	c.1663	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815732	0.90790	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.19	5.19	0.71726	GOLD (2);	0.137769	0.56097	D	0.000025	T	0.61035	0.2315	M	0.70595	2.14	0.80722	D	1	D;P	0.60575	0.988;0.942	P;P	0.52217	0.693;0.497	T	0.66818	-0.5827	10	0.87932	D	0	-41.9133	18.055	0.89362	0.0:0.0:1.0:0.0	.	555;555	Q92503-2;Q92503	.;S14L1_HUMAN	M	555;555;555;555;555;521	ENSP00000376268:V555M;ENSP00000406030:V555M;ENSP00000390392:V555M;ENSP00000408169:V555M;ENSP00000394716:V555M;ENSP00000389838:V521M	ENSP00000376268:V555M	V	+	1	0	SEC14L1	72719678	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.465000	0.80898	2.570000	0.86706	0.655000	0.94253	GTG	SEC14L1	-	superfamily_GOLD,pfscan_GOLD	ENSG00000129657		0.537	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	-	0	27	0	G	NM_003003		75208083	1	tier1	-	no_errors	ENST00000392476	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	A	A	75208083	G	A	75208083	3	1	52	1	0	0	0	0	1	0	0	0	14026	1145	40	1	1713	1	SEC14L1	17	75208083	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1584362	75208083	5987127	739	13079											
TMC8	147138	genome.wustl.edu	37	chr17	76127679	76127679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccgccgagatgctgctgCcgcggtcggtgtcatcggag	4	8	16	13	6	1	1	1	0	0	1	3	3	1	2	3	3	4	2	3	3	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:76127679C>T	ENST00000318430.5	+	2	384	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	TMC6_ENST00000322914.3_Intron|TMC6_ENST00000322933.4_5'Flank|TMC8_ENST00000589691.1_Intron|TMC6_ENST00000589553.1_5'Flank|TMC6_ENST00000590602.1_5'Flank|TMC6_ENST00000306591.7_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	4					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GATGCTGCTGCCGCGGTCGGT	0.721																																																	0													4	5	5					17																	76127679		1912	3796	5708	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.10C>T	17.37:g.76127679C>T	ENSP00000325561:p.Pro4Ser		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.P4S	ENST00000318430.5	37	c.10	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739170	0.49045	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.74209	-0.82	2.57	2.57	0.30868	.	.	.	.	.	T	0.48768	0.1518	N	0.08118	0	0.45330	D	0.998321	B;B	0.26195	0.144;0.006	B;B	0.18263	0.021;0.005	T	0.41233	-0.9520	9	0.18276	T	0.48	-8.0361	8.7522	0.34622	0.0:1.0:0.0:0.0	.	4;4	B4E0S0;Q8IU68	.;TMC8_HUMAN	S	4	ENSP00000325561:P4S	ENSP00000301627:P4S	P	+	1	0	TMC8	73639274	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	0.983000	0.29552	1.743000	0.51761	0.462000	0.41574	CCG	TMC8	-	NULL	ENSG00000167895		0.721	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	-	0	11	0	C			76127679	1	tier1	-	no_errors	ENST00000318430	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.007	T	T	76127679	C	T	76127679	3	4	52	1	0	0	0	0	1	0	0	0	16038	739	26	3	12	3	TMC8	17	76127679	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	919596	76127679	5067531	740	13080											
ENPP7	339221	genome.wustl.edu	37	chr17	77710926	77710926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttccgcgctgtgggcccTagcttcagggcgggcctgga	4	9	15	13	3	2	0	1	0	1	0	3	1	3	1	3	4	1	2	3	4	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:77710926T>C	ENST00000328313.5	+	4	1334	c.1113T>C	c.(1111-1113)ccT>ccC	p.P371P		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGTGGGCCCTAGCTTCAGGG	0.617																																																	0													91	79	83					17																	77710926		2203	4300	6503	SO:0001819	synonymous_variant	0			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1113T>C	17.37:g.77710926T>C				Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.P371	ENST00000328313.5	37	c.1113	CCDS11763.1	17																																																																																			ENPP7	-	superfamily_Alkaline_phosphatase_core	ENSG00000182156		0.617	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	-	0	28	0	T	NM_178543		77710926	1	tier1	-	no_errors	ENST00000328313	ensembl	human	known	74_37	silent	34.48	38	20	SNP	0.967	C	C	77710926	T	C	77710926	2	2	52	1	0	0	0	0	0	0	0	1	5151	1509	53	4		4	ENPP7	17	77710926	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1583247	77710926	3484284	741	13081											
CCDC40	55036	genome.wustl.edu	37	chr17	78032417	78032417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaagaaggccgagacggaGaggatccgggcagaaatcga	15	3	16	7	4	0	4	0	0	0	4	2	8	1	5	2	4	0	2	2	4	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:78032417G>C	ENST00000397545.4	+	8	1311	c.1284G>C	c.(1282-1284)gaG>gaC	p.E428D	CCDC40_ENST00000269318.5_Missense_Mutation_p.E428D|CCDC40_ENST00000374877.3_Missense_Mutation_p.E428D|CCDC40_ENST00000374876.4_Missense_Mutation_p.E428D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	428					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCGAGACGGAGAGGATCCGGG	0.502																																																	0													63	68	67					17																	78032417		2072	4197	6269	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1284G>C	17.37:g.78032417G>C	ENSP00000380679:p.Glu428Asp		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E428D	ENST00000397545.4	37	c.1284	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	5.677	0.309520	0.10733	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.53640	0.75;1.93;0.61;0.76	4.97	1.52	0.23074	.	.	.	.	.	T	0.43875	0.1267	L	0.48362	1.52	0.25449	N	0.988021	B;B;B	0.30146	0.27;0.251;0.238	B;B;B	0.36464	0.225;0.071;0.122	T	0.43814	-0.9368	9	0.54805	T	0.06	-21.206	9.8941	0.41306	0.0745:0.3987:0.5269:0.0	.	428;428;211	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	D	428	ENSP00000364011:E428D;ENSP00000269318:E428D;ENSP00000364010:E428D;ENSP00000380679:E428D	ENSP00000269318:E428D	E	+	3	2	CCDC40	75647012	0.937000	0.31787	0.019000	0.16419	0.030000	0.12068	0.532000	0.23067	0.441000	0.26529	-0.300000	0.09419	GAG	CCDC40	-	NULL	ENSG00000141519		0.502	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0	24	0	G	XM_371082		78032417	1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	missense	50.00	32	32	SNP	0.502	C	C	78032417	G	C	78032417	3	2	52	1	0	0	0	0	1	0	0	0	2819	933	33	5	1314	5	CCDC40	17	78032417	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	321491	78032417	3162793	742	13082											
GAA	2548	genome.wustl.edu	37	chr17	78085835	78085835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgcctccagccaccagTttctctccacacactacaac	9	10	4	18	0	2	0	0	0	2	0	5	0	4	0	5	0	4	1	5	0	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:78085835T>C	ENST00000302262.3	+	12	1909	c.1690T>C	c.(1690-1692)Ttt>Ctt	p.F564L	GAA_ENST00000390015.3_Missense_Mutation_p.F564L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	564					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CAGCCACCAGTTTCTCTCCAC	0.672																																																	0													130	105	114					17																	78085835		2203	4300	6503	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1690T>C	17.37:g.78085835T>C	ENSP00000305692:p.Phe564Leu		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.F564L	ENST00000302262.3	37	c.1690	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166796	0.38217	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.92752	-3.1;-3.1	4.65	2.39	0.29439	Glycoside hydrolase, superfamily (1);	0.327111	0.33092	N	0.005285	D	0.83552	0.5279	L	0.28115	0.83	0.28938	N	0.891143	B	0.06786	0.001	B	0.12837	0.008	T	0.69778	-0.5053	10	0.23302	T	0.38	.	7.4787	0.27391	0.0:0.2542:0.0:0.7458	.	564	P10253	LYAG_HUMAN	L	564	ENSP00000305692:F564L;ENSP00000374665:F564L	ENSP00000305692:F564L	F	+	1	0	GAA	75700430	0.985000	0.35326	0.866000	0.34008	0.888000	0.51559	0.171000	0.16685	0.157000	0.19338	0.533000	0.62120	TTT	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.672	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0	26	0	T			78085835	1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	C	C	78085835	T	C	78085835	3	2	52	1	0	0	0	0	1	0	0	0	6171	1725	60	4	1732	4	GAA	17	78085835	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	53418	78085835	3109375	743	13083											
RNF213	57674	genome.wustl.edu	37	chr17	78360569	78360569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctgactccactgattCtctccaactgccagtaccag	9	9	8	15	0	1	2	0	2	1	0	4	3	3	3	5	1	3	1	5	1	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:78360569C>A	ENST00000582970.1	+	63	14943	c.14800C>A	c.(14800-14802)Ctc>Atc	p.L4934I	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.L3007I|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L4983I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4934					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCACTGATTCTCTCCAACTG	0.577																																																	0													75	67	69					17																	78360569		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14800C>A	17.37:g.78360569C>A	ENSP00000464087:p.Leu4934Ile		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L4934I	ENST00000582970.1	37	c.14800	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391815	0.83011	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.28666	1.6	5.04	4.06	0.47325	.	0.000000	0.64402	D	0.000006	T	0.55768	0.1941	M	0.85542	2.76	0.30636	N	0.756955	D	0.89917	1.0	D	0.83275	0.996	T	0.60546	-0.7242	10	0.42905	T	0.14	.	10.0391	0.42146	0.1375:0.7886:0.0:0.0739	.	3007	Q63HN8	RN213_HUMAN	I	4934;4983;3007;284	ENSP00000338218:L3007I	ENSP00000338218:L3007I	L	+	1	0	RNF213	75975164	0.883000	0.30277	0.933000	0.37362	0.981000	0.71138	1.742000	0.38248	1.103000	0.41568	0.561000	0.74099	CTC	RNF213	-	NULL	ENSG00000173821		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	22	0	C	NM_020914		78360569	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.998	A	A	78360569	C	A	78360569	3	1	52	1	0	0	0	0	1	0	0	0	13522	913	32	3	15365	3	RNF213	17	78360569	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	274734	78360569	2834641	744	13084											
SIRT7	51547	genome.wustl.edu	37	chr17	79872373	79872373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacatcgaacacccgcaCgtactccctgttgggaacgc	9	7	9	16	5	1	0	1	0	0	0	3	2	2	1	2	1	3	3	2	1	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:79872373C>T	ENST00000328666.6	-	7	675	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	205	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AACACCCGCACGTACTCCCTG	0.637																																																	0													87	78	81					17																	79872373		2203	4299	6502	SO:0001583	missense	0			AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7", "sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.613G>A	17.37:g.79872373C>T	ENSP00000329466:p.Val205Met		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.V205M	ENST00000328666.6	37	c.613	CCDS11792.1	17	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021570	0.07634	.	.	ENSG00000187531	ENST00000328666;ENST00000536038	T	0.42131	0.98	4.37	2.07	0.26955	.	0.237201	0.35525	N	0.003152	T	0.33235	0.0856	L	0.48877	1.53	0.51482	D	0.999928	B;B	0.31318	0.182;0.319	B;B	0.29942	0.075;0.109	T	0.16808	-1.0390	10	0.44086	T	0.13	-20.941	10.2375	0.43292	0.1437:0.7752:0.0:0.0811	.	205;205	A8K2K0;Q9NRC8	.;SIRT7_HUMAN	M	205;188	ENSP00000329466:V205M	ENSP00000329466:V205M	V	-	1	0	SIRT7	77465665	0.996000	0.38824	0.071000	0.20095	0.009000	0.06853	3.375000	0.52410	0.825000	0.34637	-0.272000	0.10252	GTG	SIRT7	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000187531		0.637	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT7	HGNC	protein_coding	OTTHUMT00000439961.1	-	0	26	0	C	NM_016538		79872373	-1	tier1	-	no_errors	ENST00000328666	ensembl	human	known	74_37	missense	50.00	32	32	SNP	0.944	T	T	79872373	C	T	79872373	3	4	52	1	0	0	0	0	1	0	0	0	14388	536	19	1	605	1	SIRT7	17	79872373	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1511804	79872373	1322837	745	13085											
FASN	2194	genome.wustl.edu	37	chr17	80046083	80046083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccagggcgcgggccagCgtcttccacactatgctcag	7	6	13	15	3	2	0	1	0	1	0	3	0	3	0	3	3	2	1	3	3	1	2	rs373471307	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:80046083C>T	ENST00000306749.2	-	17	2912	c.2694G>A	c.(2692-2694)acG>acA	p.T898T		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	898					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CGCGGGCCAGCGTCTTCCACA	0.652													.|||	2	0.000399361	0.0015	0	5008	,	,		15202	0		0	False		,,,				2504	0				Colon(59;314 1043 11189 28578 32273)												0								C		1,4395	2.1+/-5.4	0,1,2197	44	55	51		2694	-8.2	0	17		51	0,8596		0,0,4298	no	coding-synonymous	FASN	NM_004104.4		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		898/2512	80046083	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2694G>A	17.37:g.80046083C>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.T898	ENST00000306749.2	37	c.2694	CCDS11801.1	17																																																																																			FASN	-	smart_PKS_dehydratase	ENSG00000169710		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	39	0	C	NM_004104		80046083	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	22.22	56	16	SNP	0.018	T	T	80046083	C	T	80046083	2	4	52	1	0	0	0	0	0	0	0	1	5705	755	27	1		1	FASN	17	80046083	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	173710	80046083	1149127	746	13086											
HEXDC	284004	genome.wustl.edu	37	chr17	80397532	80397532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accactactctgtgctgtgcGagctgctgcccgcaggagtc	6	9	12	14	2	1	0	0	0	1	0	2	2	1	1	2	1	6	4	2	1	1	1	rs375964079		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:80397532G>A	ENST00000327949.9	+	8	936	c.925G>A	c.(925-927)Gag>Aag	p.E309K	HEXDC_ENST00000337014.6_Missense_Mutation_p.E309K|HEXDC_ENST00000577944.1_Missense_Mutation_p.E309K			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	309					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGTGCTGTGCGAGCTGCTGCC	0.697																																																	0								G	LYS/GLU	0,4120		0,0,2060	80	97	92		925	5.1	1	17		92	1,8409		0,1,4204	no	missense	HEXDC	NM_173620.2	56	0,1,6264	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	309/586	80397532	1,12529	2060	4205	6265	SO:0001583	missense	0			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.925G>A	17.37:g.80397532G>A	ENSP00000332634:p.Glu309Lys		B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.E309K	ENST00000327949.9	37	c.925		17	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496037	0.44352	0.0	1.19E-4	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.90504	-2.68;-2.68	5.08	5.08	0.68730	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96178	0.8754	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.96340	0.9250	10	0.51188	T	0.08	-39.3136	16.3389	0.83075	0.0:0.0:1.0:0.0	.	132;309;309	B7Z2X3;Q8WVB3;Q8WVB3-2	.;HEXDC_HUMAN;.	K	309	ENSP00000337854:E309K;ENSP00000332634:E309K	ENSP00000332634:E309K	E	+	1	0	HEXDC	77990821	1.000000	0.71417	0.998000	0.56505	0.357000	0.29423	8.889000	0.92470	2.543000	0.85770	0.462000	0.41574	GAG	HEXDC	-	superfamily_Glycoside_hydrolase_SF	ENSG00000169660		0.697	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1	-	0	98	0	G	NM_173620		80397532	1	tier1	-	no_errors	ENST00000337014	ensembl	human	known	74_37	missense	50.26	95	96	SNP	1.000	A	A	80397532	G	A	80397532	3	1	52	1	0	0	0	0	1	0	0	0	7102	1059	37	1	955	1	HEXDC	17	80397532	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	351449	80397532	797678	747	13087											
HEXDC	284004	genome.wustl.edu	37	chr17	80400297	80400298	+	3'UTR	INS	-	-	G																															gggggctcctgctggaggctINSgggggggctctgcactgcca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr17:80400297_80400298insG	ENST00000327949.9	+	0	1509_1510				HEXDC_ENST00000337014.6_Frame_Shift_Ins_p.G530fs|HEXDC_ENST00000577944.1_Frame_Shift_Ins_p.LG502fs			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing						carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TGCTGGAGGCTGGGGGGGCTCT	0.693																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.*38->G	17.37:g.80400304_80400304dupG			B7UUP6|Q8IYN4|Q8TE81	Frame_Shift_Ins	INS	pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF	p.A531fs	ENST00000327949.9	37	c.1587_1588		17																																																																																			HEXDC	-	NULL	ENSG00000169660		0.693	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	HEXDC	HGNC	protein_coding	OTTHUMT00000443513.1		0	18	0	-	NM_173620		80400298	1	tier1		no_errors	ENST00000337014	ensembl	human	known	74_37	frame_shift_ins	48.89	23	22	INS	0.001:0.000	G	G	80400298	-	G	80400297	6	5	52	0	1	1	1	0	0	0	0	0	7102	1567	55	0		0	HEXDC	17	80400297	3'UTR	INS	-	TCGA-L5-A43J-01A-12D-A247-09	2765	80400297	794913	748	13088											
DLGAP1	9229	genome.wustl.edu	37	chr18	3534565	3534565	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatggaagtccaggtcGgcctgtactgctgtcgtcac	7	12	11	11	2	2	0	2	0	0	0	5	1	3	1	2	3	2	2	2	3	3	2	rs373443663		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:3534565G>A	ENST00000315677.3	-	10	2701	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A	DLGAP1_ENST00000584874.1_Silent_p.A702A|DLGAP1_ENST00000515196.2_Silent_p.A702A|DLGAP1_ENST00000581527.1_Silent_p.A702A|DLGAP1_ENST00000539435.1_Silent_p.A410A|DLGAP1_ENST00000581699.1_Silent_p.A408A|DLGAP1_ENST00000400150.3_Silent_p.A418A|DLGAP1_ENST00000400147.2_Silent_p.A400A|DLGAP1_ENST00000400149.3_Silent_p.A392A|DLGAP1_ENST00000534970.1_Silent_p.A386A|DLGAP1_ENST00000400155.1_Silent_p.A408A|DLGAP1_ENST00000400145.2_Silent_p.A400A	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	702					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGTCCAGGTCGGCCTGTACTG	0.468																																																	0								G	,,,,,,,	0,4406		0,0,2203	49	48	49		1200,2106,1158,1272,1224,1200,1230,2106	-9.1	1	18		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DLGAP1	NM_001003809.2,NM_001242761.1,NM_001242762.1,NM_001242763.1,NM_001242764.1,NM_001242765.1,NM_001242766.1,NM_004746.3	,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,	400/676,702/930,386/662,424/700,408/684,400/628,410/686,702/978	3534565	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"discs, large (Drosophila) homolog-associated protein 1"			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2106C>T	18.37:g.3534565G>A			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	pfam_GKAP	p.A702	ENST00000315677.3	37	c.2106	CCDS11836.1	18																																																																																			DLGAP1	-	pfam_GKAP	ENSG00000170579		0.468	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	-	0	11	0	G			3534565	-1	tier1	-	no_errors	ENST00000315677	ensembl	human	known	74_37	silent	51.85	13	14	SNP	0.415	A	A	3534565	G	A	3534565	2	1	52	1	0	0	0	0	0	0	0	1	4573	1103	39	1		1	DLGAP1	18	3534565	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		3534565	74542683	749	13089											
LAMA1	284217	genome.wustl.edu	37	chr18	6975948	6975948	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacttacagcggtgctgctAccgaggtagaagagaagatt	13	9	12	7	2	0	3	0	0	0	3	0	5	0	3	1	2	6	3	1	2	6	5	rs35831966		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:6975948A>G	ENST00000389658.3	-	45	6570	c.6477T>C	c.(6475-6477)ggT>ggC	p.G2159G	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2159	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGGTGCTGCTACCGAGGTAGA	0.403																																																	0													148	148	148					18																	6975948		2203	4300	6503	SO:0001819	synonymous_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6477T>C	18.37:g.6975948A>G				Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G2159	ENST00000389658.3	37	c.6477	CCDS32787.1	18																																																																																			LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.403	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	14	0	A	NM_005559		6975948	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	silent	42.31	15	11	SNP	0.001	G	G	6975948	A	G	6975948	2	3	52	1	0	0	0	0	0	0	0	1	8633	378	14	4		4	LAMA1	18	6975948	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	3441383	6975948	71101300	750	13090											
RAB12	201475	genome.wustl.edu	37	chr18	8636357	8636358	+	Splice_Site	INS	-	-	A																															gatgacattctgaaaaaggtINSaaaaaaaagaatctacatta																								rs113358113		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:8636357_8636358insA	ENST00000329286.6	+	5	904		c.e5+2		RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						CTGAAAAAGGTAAAAAAAAGAA	0.327																																																	0																																										SO:0001630	splice_region_variant	0				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"RAB, member RAS oncogene"	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.621+2->A	18.37:g.8636365_8636365dupA			A6NEF5|Q4KMQ3	Splice_Site	INS	-	e5+2	ENST00000329286.6	37	c.621+2_621+1	CCDS42410.1	18																																																																																			RAB12	-	-	ENSG00000206418		0.327	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RAB12	HGNC	protein_coding	OTTHUMT00000444080.1		0	19	0	-	XM_113967	Intron	8636358	1	tier1		no_errors	ENST00000329286	ensembl	human	known	74_37	splice_site_ins	44.44	15	12	INS	1.000:0.962	A	A	8636358	-	A	8636357	8	5	52	1	0	1	1	0	0	0	1	0	12943	1652	57	0	641	0	RAB12	18	8636357	Splice_Site	INS	-	TCGA-L5-A43J-01A-12D-A247-09	1660409	8636357	69440891	751	13091											
FAM38B	63895	genome.wustl.edu	37	chr18	10699097	10699097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccctcctgccatgacCgagggagagctcatcatctg	8	8	12	13	1	3	2	2	1	1	1	5	5	5	3	4	2	2	1	4	2	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:10699097C>T	ENST00000503781.3	-	40	6180	c.6181G>A	c.(6181-6183)Ggt>Agt	p.G2061S	PIEZO2_ENST00000538948.1_Missense_Mutation_p.G18S|PIEZO2_ENST00000285141.4_5'UTR|PIEZO2_ENST00000302079.6_Missense_Mutation_p.G2061S|PIEZO2_ENST00000580640.1_Missense_Mutation_p.G2086S	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2061					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CTGCCATGACCGAGGGAGAGC	0.562																																																	0													55	54	54					18																	10699097		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.6181G>A	18.37:g.10699097C>T	ENSP00000421377:p.Gly2061Ser		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_Piezo	p.G18S	ENST00000503781.3	37	c.52		18	.	.	.	.	.	.	.	.	.	.	C	2.636	-0.285313	0.05605	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948	T;T	0.71103	-0.54;-0.54	5.68	-1.7	0.08159	.	.	.	.	.	T	0.31482	0.0798	N	0.00926	-1.1	0.09310	N	0.999998	.	.	.	.	.	.	T	0.24835	-1.0149	7	0.09590	T	0.72	.	4.3433	0.11120	0.0932:0.3345:0.094:0.4783	.	.	.	.	S	18;2061;18	ENSP00000303316:G2061S;ENSP00000443129:G18S	ENSP00000303316:G2061S	G	-	1	0	FAM38B	10689097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.111000	0.10807	-0.587000	0.05890	-1.036000	0.02392	GGT	PIEZO2	-	NULL	ENSG00000154864		0.562	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	28	0	C	NM_022068		10699097	-1	tier1	-	no_errors	ENST00000538948	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.000	T	T	10699097	C	T	10699097	3	4	52	1	0	0	0	0	1	0	0	0	5577	652	23	1	2129	1	FAM38B	18	10699097	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2062740	10699097	67378151	752	13092											
CIDEA	1149	genome.wustl.edu	37	chr18	12277160	12277160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctactccgcccaggtgaCgggacagtttctcatctatc	7	11	9	14	2	2	1	1	1	2	0	6	2	4	2	3	2	1	1	3	2	2	3	rs374773954		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:12277160C>T	ENST00000320477.9	+	5	616	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	184					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GCCCAGGTGACGGGACAGTTT	0.582																																																	0								C	MET/THR	0,4406		0,0,2203	104	89	94		551	4.9	0.6	18		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	CIDEA	NM_001279.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	184/220	12277160	1,13005	2203	4300	6503	SO:0001583	missense	0			AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.551C>T	18.37:g.12277160C>T	ENSP00000320209:p.Thr184Met		B0YIY7|Q6UPR7	Missense_Mutation	SNP	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.T184M	ENST00000320477.9	37	c.551	CCDS11856.1	18	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123889	0.37533	0.0	1.16E-4	ENSG00000176194	ENST00000320477	T	0.80909	-1.43	4.87	4.87	0.63330	.	0.061993	0.64402	D	0.000007	D	0.89114	0.6623	M	0.83223	2.63	0.45366	D	0.998353	D;D	0.89917	1.0;1.0	D;P	0.67725	0.953;0.886	D	0.90480	0.4459	10	0.66056	D	0.02	-14.9227	13.5318	0.61625	0.0:1.0:0.0:0.0	.	218;184	Q8N5P9;O60543	.;CIDEA_HUMAN	M	184	ENSP00000320209:T184M	ENSP00000320209:T184M	T	+	2	0	CIDEA	12267160	0.973000	0.33851	0.647000	0.29507	0.015000	0.08874	4.195000	0.58400	2.234000	0.73211	0.462000	0.41574	ACG	CIDEA	-	NULL	ENSG00000176194		0.582	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CIDEA	HGNC	protein_coding	OTTHUMT00000254599.2	-	0	43	0	C	NM_001279		12277160	1	tier1	-	no_errors	ENST00000320477	ensembl	human	known	74_37	missense	41.75	60	43	SNP	0.798	T	T	12277160	C	T	12277160	3	4	52	1	0	0	0	0	1	0	0	0	3432	536	19	1	713	1	CIDEA	18	12277160	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1578063	12277160	65800088	753	13093											
ESCO1	114799	genome.wustl.edu	37	chr18	19153489	19153489	+	Frame_Shift_Del	DEL	A	A	-																															tatcatgtagctttgtccctAaaaacgtactttgagtcact																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:19153489delA	ENST00000269214.5	-	4	2253	c.1316delT	c.(1315-1317)ttafs	p.L439fs		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	439					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTTTGTCCCTAAAAACGTACT	0.333																																																	0													65	67	66					18																	19153489		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.1316delT	18.37:g.19153489delA	ENSP00000269214:p.Leu439fs		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Frame_Shift_Del	DEL	NULL	p.L439fs	ENST00000269214.5	37	c.1316	CCDS32800.1	18																																																																																			ESCO1	-	NULL	ENSG00000141446		0.333	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO1	HGNC	protein_coding	OTTHUMT00000443942.1		0	28	0	A	NM_052911		19153489	-1	tier1		no_errors	ENST00000269214	ensembl	human	known	74_37	frame_shift_del	16.33	41	8	DEL	0.592	-	-	19153489	A	-	19153489	7	5	52	1	0	1	0	1	0	0	0	0	5264	372	13	0	1242	0	ESCO1	18	19153489	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	6876329	19153489	58923759	754	13094											
SLC14A2	8170	genome.wustl.edu	37	chr18	43248420	43248420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtggctgttgctacccGtcatcatcatgtccatgtct	6	14	9	12	1	4	0	3	0	1	0	5	0	5	0	2	2	2	3	2	2	1	2	rs145938404	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:43248420G>A	ENST00000255226.6	+	15	2830	c.2014G>A	c.(2014-2016)Gtc>Atc	p.V672I	SLC14A2_ENST00000586448.1_Missense_Mutation_p.V672I|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.V149I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	672					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCTACCCGTCATCATCAT	0.512																																																	0								G	ILE/VAL,ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	228	182	197		2014,2014	3	0.3	18	dbSNP_134	197	0,8600		0,0,4300	no	missense,missense	SLC14A2	NM_001242692.1,NM_007163.3	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	672/921,672/921	43248420	2,13004	2203	4300	6503	SO:0001583	missense	0			X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"Solute carriers"	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2014G>A	18.37:g.43248420G>A	ENSP00000255226:p.Val672Ile		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	pfam_Urea_transporter	p.V672I	ENST00000255226.6	37	c.2014	CCDS11924.1	18	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585979	0.28268	4.54E-4	0.0	ENSG00000132874	ENST00000255226	T	0.52754	0.65	4.83	3.04	0.35103	.	0.133306	0.33253	N	0.005105	T	0.47322	0.1439	M	0.78344	2.41	0.80722	D	1	B	0.12630	0.006	B	0.18561	0.022	T	0.40701	-0.9549	10	0.30854	T	0.27	-32.171	11.1738	0.48588	0.1494:0.0:0.8506:0.0	.	672	Q15849	UT2_HUMAN	I	672	ENSP00000255226:V672I	ENSP00000255226:V672I	V	+	1	0	SLC14A2	41502418	0.983000	0.35010	0.298000	0.25002	0.548000	0.35241	2.157000	0.42320	0.635000	0.30488	0.563000	0.77884	GTC	SLC14A2	-	pfam_Urea_transporter	ENSG00000132874		0.512	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC14A2	HGNC	protein_coding	OTTHUMT00000255858.1	-	0	88	0	G			43248420	1	tier1	rs145938404	no_errors	ENST00000255226	ensembl	human	known	74_37	missense	20.41	78	20	SNP	0.856	A	A	43248420	G	A	43248420	3	1	52	1	0	0	0	0	1	0	0	0	14442	1145	40	1	2068	1	SLC14A2	18	43248420	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	24094931	43248420	34828828	755	13095											
KIAA1632	57724	genome.wustl.edu	37	chr18	43459143	43459143	+	Frame_Shift_Del	DEL	A	A	-																															cttggataaccgaagcttatAaaaaaagtctgaaagccact																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:43459143delA	ENST00000282041.5	-	33	5738	c.5704delT	c.(5704-5706)tatfs	p.Y1902fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1902					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGAAGCTTATAAAAAAAGTCT	0.343																																																	0													67	65	66					18																	43459143		1802	4070	5872	SO:0001589	frameshift_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5704delT	18.37:g.43459143delA	ENSP00000282041:p.Tyr1902fs		A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	NULL	p.Y1902fs	ENST00000282041.5	37	c.5704	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.343	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1		0	28	0	A	NM_020964		43459143	-1	tier1		no_errors	ENST00000282041	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	1.000	-	-	43459143	A	-	43459143	7	5	52	1	0	1	0	1	0	0	0	0	8276	362	13	0	2083	0	KIAA1632	18	43459143	Frame_Shift_Del	DEL	A	TCGA-L5-A43J-01A-12D-A247-09	210723	43459143	34618105	756	13096											
MBD1	4152	genome.wustl.edu	37	chr18	47802303	47802304	+	Frame_Shift_Del	DEL	CA	CA	-																															gaggcaggtggagcaggcccCacagtcttctgttacctggc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:47802303_47802304delCA	ENST00000591416.1	-	7	995_996	c.564_565delTG	c.(562-567)tgtgggfs	p.CG188fs	MBD1_ENST00000590208.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000398488.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.CG214fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269468.5_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.CG188fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.CG188fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	188					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GAGCAGGCCCCACAGTCTTCTG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.564_565delTG	18.37:g.47802305_47802306delCA	ENSP00000467017:p.Cys188fs		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.C214fs	ENST00000591416.1	37	c.643_642	CCDS11943.1	18																																																																																			MBD1	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000141644		0.624	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3		0	21	0	CA	NM_015846		47802304	-1	tier1		no_errors	ENST00000424334	ensembl	human	known	74_37	frame_shift_del	14.58	41	7	DEL	1.000:0.747	-	-	47802304	CA	-	47802303	7	5	52	1	0	1	0	1	0	0	0	0	9380	594	21	0	1486	0	MBD1	18	47802303	Frame_Shift_Del	DEL	CA	TCGA-L5-A43J-01A-12D-A247-09	4343160	47802303	30274945	757	13097											
DCC	1630	genome.wustl.edu	37	chr18	50592505	50592505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggctggaaatgcccaGaccagtgcacagctcattgt	12	8	11	10	0	1	2	1	1	0	1	1	3	1	3	2	2	3	3	2	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:50592505G>T	ENST00000442544.2	+	7	1846	c.1230G>T	c.(1228-1230)caG>caT	p.Q410H	DCC_ENST00000412726.1_Missense_Mutation_p.Q258H|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.Q65H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	410	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAATGCCCAGACCAGTGCAC	0.448																																																	0													151	137	142					18																	50592505		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1230G>T	18.37:g.50592505G>T	ENSP00000389140:p.Gln410His			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q410H	ENST00000442544.2	37	c.1230	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647003	0.29246	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.67865	-0.29;-0.29	5.31	4.32	0.51571	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.74619	0.3740	L	0.54965	1.715	0.41798	D	0.989901	D;D;D	0.89917	0.994;0.999;1.0	D;D;D	0.83275	0.953;0.985;0.996	T	0.74548	-0.3629	10	0.56958	D	0.05	.	7.567	0.27885	0.2258:0.0:0.7742:0.0	.	258;258;410	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	410;343;258	ENSP00000389140:Q410H;ENSP00000397322:Q258H	ENSP00000304146:Q343H	Q	+	3	2	DCC	48846503	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	3.596000	0.54024	1.046000	0.40249	0.650000	0.86243	CAG	DCC	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000187323		0.448	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	80	0	G	NM_005215		50592505	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	21.67	47	13	SNP	1.000	T	T	50592505	G	T	50592505	3	4	52	1	0	0	0	0	1	0	0	0	4291	933	33	3	1256	3	DCC	18	50592505	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2790202	50592505	27484743	758	13098											
WDR7	23335	genome.wustl.edu	37	chr18	54348614	54348614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagcttgcacacatactGgcatacaggttagtttctat	12	14	7	8	0	1	0	0	0	1	0	1	0	1	0	0	2	4	5	0	2	6	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:54348614G>A	ENST00000254442.3	+	4	548	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	WDR7_ENST00000357574.3_Missense_Mutation_p.G113S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	113					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CACACATACTGGCATACAGGT	0.299																																																	0													167	158	161					18																	54348614		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.337G>A	18.37:g.54348614G>A	ENSP00000254442:p.Gly113Ser		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G113S	ENST00000254442.3	37	c.337	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775546	0.49786	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.64085	-0.08;-0.08	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.59348	0.2187	L	0.51422	1.61	0.80722	D	1	B;P	0.48503	0.175;0.911	B;B	0.42282	0.025;0.382	T	0.56032	-0.8046	10	0.19147	T	0.46	.	19.3159	0.94213	0.0:0.0:1.0:0.0	.	113;113	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	113	ENSP00000254442:G113S;ENSP00000350187:G113S	ENSP00000254442:G113S	G	+	1	0	WDR7	52499612	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.736000	0.98828	2.669000	0.90835	0.484000	0.47621	GGC	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000091157		0.299	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0	36	0	G			54348614	1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	A	A	54348614	G	A	54348614	3	1	52	1	0	0	0	0	1	0	0	0	17369	1348	47	3	347	3	WDR7	18	54348614	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3756109	54348614	23728634	759	13099											
KIAA1468	57614	genome.wustl.edu	37	chr18	59922664	59922664	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaaatacccagaaagaCgactgcttgtggcagaatcc	15	7	8	11	1	1	3	1	0	0	3	2	4	2	3	2	1	2	2	2	1	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:59922664C>T	ENST00000398130.2	+	13	2081	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.R617*	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	617										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCCAGAAAGACGACTGCTTGT	0.343																																																	0													102	111	108					18																	59922664		2203	4300	6503	SO:0001587	stop_gained	0			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.1849C>T	18.37:g.59922664C>T	ENSP00000381198:p.Arg617*			Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation	p.R617*	ENST00000398130.2	37	c.1849	CCDS11979.2	18	.	.	.	.	.	.	.	.	.	.	C	40	8.063510	0.98635	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	6.06	3.26	0.37387	.	0.051729	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3521	14.1336	0.65270	0.4171:0.5829:0.0:0.0	.	.	.	.	X	617	.	.	R	+	1	2	KIAA1468	58073644	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.495000	0.35627	0.413000	0.25759	-0.182000	0.12963	CGA	KIAA1468	-	superfamily_ARM-type_fold	ENSG00000134444		0.343	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1468	HGNC	protein_coding	OTTHUMT00000256187.1	-	0	15	0	C	NM_020854		59922664	1	tier1	-	no_errors	ENST00000256858	ensembl	human	known	74_37	nonsense	52.38	10	11	SNP	1.000	T	T	59922664	C	T	59922664	4	4	52	1	0	0	0	0	0	1	0	0	8263	528	19	1	1899	1	KIAA1468	18	59922664	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5574050	59922664	18154584	760	13100											
FBXO15	201456	genome.wustl.edu	37	chr18	71749238	71749238	+	Frame_Shift_Del	DEL	T	T	-																															gaggtaggtgttctctgttaTtttttaaatgtataacaatg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:71749238delT	ENST00000419743.2	-	9	1266	c.1187delA	c.(1186-1188)aatfs	p.N397fs	FBXO15_ENST00000269500.5_Frame_Shift_Del_p.N321fs|FBXO15_ENST00000580806.1_5'UTR	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	397						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTCTCTGTTATTTTTTAAATG	0.328																																																	0													103	97	99					18																	71749238		2203	4300	6503	SO:0001589	frameshift_variant	0			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"F-boxes /  "other""	13617	protein-coding gene	gene with protein product		609093	"F-box only protein 15"			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1187delA	18.37:g.71749238delT	ENSP00000393154:p.Asn397fs		B3KST3	Frame_Shift_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.N396fs	ENST00000419743.2	37	c.1187	CCDS45884.1	18																																																																																			FBXO15	-	NULL	ENSG00000141665		0.328	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1		0	48	0	T	NM_152676		71749238	-1	tier1		no_errors	ENST00000419743	ensembl	human	known	74_37	frame_shift_del	51.02	24	25	DEL	0.379	-	-	71749238	T	-	71749238	7	5	52	1	0	1	0	1	0	0	0	0	5750	1493	52	0	353	0	FBXO15	18	71749238	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	11826574	71749238	6328010	761	13101											
ZNF407	55628	genome.wustl.edu	37	chr18	72343072	72343072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcccataatgaagacGgtgggcctgtatctgatgtg	9	13	11	8	1	2	3	1	2	1	1	3	3	3	3	2	2	0	1	2	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:72343072G>A	ENST00000299687.5	+	1	97	c.97G>A	c.(97-99)Ggt>Agt	p.G33S	ZNF407_ENST00000309902.6_Missense_Mutation_p.G33S|ZNF407_ENST00000582337.1_Missense_Mutation_p.G33S|ZNF407_ENST00000577538.1_Missense_Mutation_p.G33S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TAATGAAGACGGTGGGCCTGT	0.378																																																	0													75	73	73					18																	72343072		1877	4105	5982	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.97G>A	18.37:g.72343072G>A	ENSP00000299687:p.Gly33Ser		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.G33S	ENST00000299687.5	37	c.97	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	5.696	0.312997	0.10789	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.08634	3.07;3.52	5.06	-7.24	0.01475	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.48768	-0.9006	9	0.05525	T	0.97	.	1.6417	0.02753	0.1788:0.1932:0.3634:0.2646	.	33;33;33	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	S	33	ENSP00000299687:G33S;ENSP00000310359:G33S	ENSP00000299687:G33S	G	+	1	0	ZNF407	70472060	0.000000	0.05858	0.033000	0.17914	0.003000	0.03518	-2.060000	0.01392	0.250000	0.21479	-0.794000	0.03295	GGT	ZNF407	-	NULL	ENSG00000215421		0.378	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0	47	0	G	NM_017757		72343072	1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.060	A	A	72343072	G	A	72343072	3	1	52	1	0	0	0	0	1	0	0	0	17935	1116	39	1	99	1	ZNF407	18	72343072	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	593834	72343072	5734176	762	13102											
CTDP1	9150	genome.wustl.edu	37	chr18	77474867	77474867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccgagggcacgaagtcCtcctcctccgcctctgatgg	6	8	12	15	3	1	1	0	1	1	0	6	4	6	1	6	2	0	1	6	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr18:77474867C>T	ENST00000299543.7	+	8	1554	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	CTDP1_ENST00000075430.7_Silent_p.S469S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	469	Ser-rich.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCACGAAGTCCTCCTCCTCCG	0.672																																																	0																																										SO:0001819	synonymous_variant	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1407C>T	18.37:g.77474867C>T			A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Silent	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.S469	ENST00000299543.7	37	c.1407	CCDS12017.1	18																																																																																			CTDP1	-	NULL	ENSG00000060069		0.672	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0	9	0	C	NM_004715		77474867	1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.000	T	T	77474867	C	T	77474867	2	4	52	1	0	0	0	0	0	0	0	1	4011	668	24	3		3	CTDP1	18	77474867	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5131795	77474867	602381	763	13103											
MADCAM1	8174	genome.wustl.edu	37	chr19	504772	504772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgcgggtgaccagctgcCcgcggctctgtggaccagca	6	6	14	15	3	1	1	0	1	1	0	1	2	1	2	4	3	4	3	4	3	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:504772C>T	ENST00000215637.3	+	5	1002	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TPGS1_ENST00000359315.5_5'Flank|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000346144.4_Missense_Mutation_p.P232L|MADCAM1_ENST00000382683.4_Missense_Mutation_p.P137L|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P100L	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	319					aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCAGCTGCCCGCGGCTCTG	0.677																																																	0													49	55	53					19																	504772		2203	4299	6502	SO:0001583	missense	0			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.956C>T	19.37:g.504772C>T	ENSP00000215637:p.Pro319Leu		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom	p.P319L	ENST00000215637.3	37	c.956	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919427	0.33908	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	T;T	0.14893	2.93;2.47	3.9	3.9	0.45041	.	1.821150	0.02751	N	0.117496	T	0.13030	0.0316	N	0.08118	0	0.09310	N	1	B;P;P	0.44877	0.319;0.608;0.845	B;B;B	0.40329	0.104;0.146;0.326	T	0.36163	-0.9759	10	0.72032	D	0.01	.	11.582	0.50898	0.0:1.0:0.0:0.0	.	137;232;319	Q5UGI7;B2RPL9;Q13477	.;.;MADCA_HUMAN	L	343;335;327;319;232;137	ENSP00000215637:P319L;ENSP00000304247:P232L	ENSP00000215637:P319L	P	+	2	0	MADCAM1	455772	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	1.853000	0.39358	2.185000	0.69588	0.555000	0.69702	CCC	MADCAM1	-	NULL	ENSG00000099866		0.677	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	-	0	31	0	C	NM_130760		504772	1	tier1	-	no_errors	ENST00000215637	ensembl	human	known	74_37	missense	52.78	34	38	SNP	0.004	T	T	504772	C	T	504772	3	4	52	1	0	0	0	0	1	0	0	0	9187	623	22	3	974	3	MADCAM1	19	504772	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		504772	58624211	764	13104											
POLRMT	5442	genome.wustl.edu	37	chr19	621120	621120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccgcaaaggccaggcGcttccgcagcggctcccgct	5	6	11	19	5	0	0	0	0	0	0	4	0	4	0	5	3	1	5	5	3	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:621120G>A	ENST00000588649.2	-	10	2662	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	860	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGCCAGGCGCTTCCGCAGC	0.692																																																	0													28	33	31					19																	621120		2203	4299	6502	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2578C>T	19.37:g.621120G>A	ENSP00000465759:p.Arg860Cys		O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.R860C	ENST00000588649.2	37	c.2578	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	13.47	2.247739	0.39697	.	.	ENSG00000099821	ENST00000215591	T	0.61274	0.12	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.78489	0.4291	M	0.91406	3.205	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.82918	-0.0219	10	0.87932	D	0	-39.4919	11.4198	0.49974	0.0:0.0:0.8195:0.1805	.	860	O00411	RPOM_HUMAN	C	860	ENSP00000215591:R860C	ENSP00000215591:R860C	R	-	1	0	POLRMT	572120	1.000000	0.71417	0.400000	0.26346	0.003000	0.03518	3.477000	0.53151	2.283000	0.76528	0.455000	0.32223	CGC	POLRMT	-	pfam_DNA-dir_Rpol_phage-type	ENSG00000099821		0.692	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	-	0	36	0	G	NM_005035		621120	-1	tier1	-	no_errors	ENST00000588649	ensembl	human	known	74_37	missense	41.41	57	41	SNP	0.981	A	A	621120	G	A	621120	3	1	52	1	0	0	0	0	1	0	0	0	12277	1087	38	1	1162	1	POLRMT	19	621120	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	116348	621120	58507863	765	13105											
MED16	10025	genome.wustl.edu	37	chr19	875405	875405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgggtcaccgtgcagggcGacagcttgcagagcgaggcc	7	4	17	13	5	1	1	1	0	0	1	1	3	1	1	2	3	4	3	2	3	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:875405G>A	ENST00000589119.1	-	9	1609	c.1610C>T	c.(1609-1611)tCg>tTg	p.S537L	MED16_ENST00000312090.6_Missense_Mutation_p.S537L|MED16_ENST00000395808.3_Missense_Mutation_p.S537L|MED16_ENST00000325464.1_Missense_Mutation_p.S537L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.S537L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	537					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCAGGGCGACAGCTTGCA	0.662																																																	0													57	50	52					19																	875405		2201	4298	6499	SO:0001583	missense	0			AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"WD repeat domain containing"	17556	protein-coding gene	gene with protein product		604062	"thyroid hormone receptor associated protein 5"	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1610C>T	19.37:g.875405G>A	ENSP00000464810:p.Ser537Leu		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S537L	ENST00000589119.1	37	c.1610	CCDS12047.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.597963	0.87055	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T	0.47869	1.4;0.83;0.83	4.2	4.2	0.49525	.	0.147213	0.47455	D	0.000223	T	0.60117	0.2244	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.997;0.998;0.998;0.998	D;D;D;D;D	0.79108	0.986;0.968;0.986;0.986;0.992	T	0.59825	-0.7381	10	0.39692	T	0.17	-24.8427	15.8813	0.79207	0.0:0.0:1.0:0.0	.	537;537;537;537;537	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	L	537;537;537;537;468;393;298;296;255;537	ENSP00000325612:S537L;ENSP00000308528:S537L;ENSP00000379153:S537L	ENSP00000269814:S537L	S	-	2	0	MED16	826405	1.000000	0.71417	0.892000	0.35008	0.775000	0.43874	8.990000	0.93510	2.047000	0.60756	0.561000	0.74099	TCG	MED16	-	pfam_Mediator_Med16	ENSG00000175221		0.662	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED16	HGNC	protein_coding	OTTHUMT00000457902.3		0	31	0	G	NM_005481		875405	-1			no_errors	ENST00000325464	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.998	A	A	875405	G	A	875405	3	1	52	1	0	0	0	0	1	0	0	0	9472	1059	37	1	1051	1	MED16	19	875405	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	254285	875405	58253578	766	13106											
SBNO2	22904	genome.wustl.edu	37	chr19	1122525	1122525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcccgcaggtcgcgctccGcatcgtacttgaggtcgttg	4	11	13	13	6	0	1	0	1	0	0	5	1	2	1	2	2	1	5	2	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1122525G>A	ENST00000361757.3	-	10	1184	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SBNO2_ENST00000587024.1_Missense_Mutation_p.A316V|SBNO2_ENST00000438103.2_Missense_Mutation_p.A259V	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	316					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGCGCTCCGCATCGTACTT	0.716																																																	0													10	10	10					19																	1122525		1915	4092	6007	SO:0001583	missense	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.947C>T	19.37:g.1122525G>A	ENSP00000354733:p.Ala316Val		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.A316V	ENST00000361757.3	37	c.947	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668976	0.67814	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	D;D	0.93366	-3.21;-3.21	4.03	2.99	0.34606	.	0.057630	0.64402	N	0.000002	D	0.95843	0.8647	M	0.79343	2.45	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.995;1.0;1.0	D;P;D;D	0.91635	0.999;0.903;0.993;0.988	D	0.95047	0.8183	10	0.59425	D	0.04	-13.6818	10.7363	0.46126	0.0953:0.0:0.9047:0.0	.	259;316;316;259	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	V	316;259;322	ENSP00000354733:A316V;ENSP00000400762:A259V	ENSP00000250872:A322V	A	-	2	0	SBNO2	1073525	1.000000	0.71417	0.451000	0.26982	0.288000	0.27193	9.621000	0.98376	0.793000	0.33875	0.561000	0.74099	GCG	SBNO2	-	superfamily_P-loop_NTPase	ENSG00000064932		0.716	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	-	0	13	0	G	NM_014963		1122525	-1	tier1	-	no_errors	ENST00000361757	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	A	A	1122525	G	A	1122525	3	1	52	1	0	0	0	0	1	0	0	0	13908	1087	38	1	3245	1	SBNO2	19	1122525	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	247120	1122525	58006458	767	13107											
STK11	6794	genome.wustl.edu	37	chr19	1220393	1220393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttctgtcagctgattgaCggcctggagtacctgcatag	8	12	11	10	1	2	2	1	2	1	0	2	3	2	3	2	2	4	3	2	2	3	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1220393C>T	ENST00000326873.7	+	4	1659	c.486C>T	c.(484-486)gaC>gaT	p.D162D		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		DGL -> NDM (in PJS).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGATTGACGGCCTGGAGT	0.642		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	28	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)	cervix(15)|lung(9)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)											40	46	44					19																	1220393		2093	4232	6325	SO:0001819	synonymous_variant	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.486C>T	19.37:g.1220393C>T			B2RBX7|E7EW76	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D162	ENST00000326873.7	37	c.486	CCDS45896.1	19																																																																																			STK11	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000118046		0.642	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	-	0	33	0	C	NM_000455		1220393	1	tier1	-	no_errors	ENST00000326873	ensembl	human	known	74_37	silent	31.65	54	25	SNP	0.955	T	T	1220393	C	T	1220393	2	4	52	1	0	0	0	0	0	0	0	1	15334	535	19	1		1	STK11	19	1220393	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	97868	1220393	57908590	768	13108											
DAZAP1	26528	genome.wustl.edu	37	chr19	1434830	1434830	+	Frame_Shift_Del	DEL	G	G	-																															ggtccctccgtgccagggtcGgggggcccccccgccggcgg																								rs368917206		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1434830delG	ENST00000233078.4	+	12	1304	c.1143delG	c.(1141-1143)tcgfs	p.S381fs	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	381	Pro-rich.		S -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCAGGGTcggggggccccc	0.711																																																	0													12	16	15					19																	1434830		2200	4293	6493	SO:0001589	frameshift_variant	0				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"RNA binding motif (RRM) containing"	2683	protein-coding gene	gene with protein product	"deleted in azoospermia associated protein 1"	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.1143delG	19.37:g.1434830delG	ENSP00000233078:p.Ser381fs		Q96MJ3|Q9NRR9	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G383fs	ENST00000233078.4	37	c.1143	CCDS12065.1	19																																																																																			DAZAP1	-	NULL	ENSG00000071626		0.711	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP1	HGNC	protein_coding	OTTHUMT00000449522.3		0	42	0	G	NM_170711		1434830	1	tier1		no_errors	ENST00000233078	ensembl	human	known	74_37	frame_shift_del	24.17	91	29	DEL	0.048	-	-	1434830	G	-	1434830	7	5	52	1	0	1	0	1	0	0	0	0	4253	1103	39	0	1282	0	DAZAP1	19	1434830	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	214437	1434830	57694153	769	13109											
ATP8B3	148229	genome.wustl.edu	37	chr19	1796768	1796768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcagatggccagcaggcgCcagaactcccgcacggcctc	8	4	13	16	3	0	2	0	0	0	2	2	2	1	2	4	4	2	3	4	4	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:1796768C>A	ENST00000310127.6	-	16	1933	c.1695G>T	c.(1693-1695)tgG>tgT	p.W565C	ATP8B3_ENST00000539485.1_Missense_Mutation_p.W565C|ATP8B3_ENST00000525591.1_Missense_Mutation_p.W518C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	565					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGGCGCCAGAACTCCC	0.692																																																	0													29	35	33					19																	1796768		2097	4186	6283	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1695G>T	19.37:g.1796768C>A	ENSP00000311336:p.Trp565Cys		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.W565C	ENST00000310127.6	37	c.1695	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345500	0.61073	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.62788	0.0;0.0;0.0	3.63	3.63	0.41609	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.309482	0.30528	N	0.009433	T	0.72020	0.3409	L	0.56124	1.755	0.52099	D	0.999941	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.979	T	0.74569	-0.3622	10	0.87932	D	0	.	10.6363	0.45567	0.0:0.8043:0.1957:0.0	.	565;518	O60423;Q7Z485	AT8B3_HUMAN;.	C	565;565;518	ENSP00000311336:W565C;ENSP00000443574:W565C;ENSP00000437115:W518C	ENSP00000311336:W565C	W	-	3	0	ATP8B3	1747768	0.848000	0.29623	0.999000	0.59377	0.734000	0.41952	1.274000	0.33132	1.878000	0.54408	0.561000	0.74099	TGG	ATP8B3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0	18	0	C	NM_138813		1796768	-1	tier1	-	no_errors	ENST00000539485	ensembl	human	known	74_37	missense	37.78	28	17	SNP	0.996	A	A	1796768	C	A	1796768	3	1	52	1	0	0	0	0	1	0	0	0	1197	740	26	3	2293	3	ATP8B3	19	1796768	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	361938	1796768	57332215	770	13110											
LMNB2	84823	genome.wustl.edu	37	chr19	2432415	2432415	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccccaccacctaccGtgaccatctggccggcgcgc	5	6	9	21	4	1	1	0	1	1	0	2	1	2	1	8	2	2	0	8	2	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:2432415G>A	ENST00000582871.1	-	9	1615	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Splice_Site_p.T530M	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	510	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTACCGTGACCATCTG	0.652																																																	0													173	137	149					19																	2432415		2203	4300	6503	SO:0001630	splice_region_variant	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1530+1C>T	19.37:g.2432415G>A			O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.T530M	ENST00000582871.1	37	c.1589		19	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856660	0.71834	.	.	ENSG00000176619	ENST00000325327	.	.	.	3.93	3.93	0.45458	Intermediate filament, C-terminal (1);	0.111526	0.64402	D	0.000010	T	0.79240	0.4412	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81618	-0.0851	9	0.62326	D	0.03	.	10.0406	0.42155	0.0:0.0:0.7983:0.2016	.	510	Q03252	LMNB2_HUMAN	M	510	.	ENSP00000327054:T510M	T	-	2	0	LMNB2	2383415	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.123000	0.71614	1.751000	0.51876	0.555000	0.69702	ACG	LMNB2	-	pfam_Lamin_tail_dom	ENSG00000176619		0.652	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		-	0	66	0	G	NM_032737	Missense_Mutation	2432415	-1	tier1	-	no_errors	ENST00000325327	ensembl	human	known	74_37	missense	74.70	21	62	SNP	1.000	A	A	2432415	G	A	2432415	5	1	52	1	0	0	0	0	0	0	1	0	8880	1159	40	1	289	1	LMNB2	19	2432415	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	635647	2432415	56696568	771	13111											
EEF2	1938	genome.wustl.edu	37	chr19	3984216	3984216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcccgggccgaggcgaTgatgcccgccttgcacacca	6	4	13	18	5	0	1	0	1	0	0	0	3	0	1	6	3	2	1	6	3	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:3984216T>C	ENST00000309311.6	-	2	224	c.136A>G	c.(136-138)Atc>Gtc	p.I46V	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	46	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGAGGCGATGATGCCCGCC	0.612																																					Colon(165;1804 1908 4071 6587 18799)												0													148	135	139					19																	3984216		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.136A>G	19.37:g.3984216T>C	ENSP00000307940:p.Ile46Val		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.I46V	ENST00000309311.6	37	c.136	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946827	0.53186	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.78246	-1.16	5.34	5.34	0.76211	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	L	0.48986	1.54	0.80722	D	1	P	0.47604	0.898	D	0.68192	0.956	D	0.85547	0.1219	10	0.59425	D	0.04	-37.7705	14.489	0.67637	0.0:0.0:0.0:1.0	.	46	P13639	EF2_HUMAN	V	46	ENSP00000307940:I46V	ENSP00000307940:I46V	I	-	1	0	EEF2	3935216	1.000000	0.71417	0.998000	0.56505	0.333000	0.28666	7.815000	0.86186	2.014000	0.59158	0.533000	0.62120	ATC	EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom	ENSG00000167658		0.612	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0	84	0	T	NM_001961		3984216	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	58.93	46	66	SNP	1.000	C	C	3984216	T	C	3984216	3	2	52	1	0	0	0	0	1	0	0	0	4943	1464	51	4	2496	4	EEF2	19	3984216	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1551801	3984216	55144767	772	13112											
LRG1	116844	genome.wustl.edu	37	chr19	4537971	4537971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgggacttggccactGccaggagcgtctggcccttc	5	9	12	15	1	2	0	1	0	1	0	3	2	2	2	3	4	2	0	3	4	0	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:4537971G>T	ENST00000306390.6	-	2	1485	c.1025C>A	c.(1024-1026)gCa>gAa	p.A342E	PLIN5_ENST00000586133.1_5'Flank|CTB-50L17.14_ENST00000586020.1_Intron|PLIN5_ENST00000381848.3_5'Flank|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	342	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGCCACTGCCAGGAGCGT	0.577																																																	0													28	29	29					19																	4537971		2203	4299	6502	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.1025C>A	19.37:g.4537971G>T	ENSP00000302621:p.Ala342Glu		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A342E	ENST00000306390.6	37	c.1025	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	1.268	-0.613922	0.03690	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02216	4.39	5.15	-10.3	0.00346	Cysteine-rich flanking region, C-terminal (1);	1.115740	0.07067	N	0.834777	T	0.00815	0.0027	N	0.03050	-0.425	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.47923	-0.9079	10	0.02654	T	1	-2.0E-4	10.7225	0.46048	0.1368:0.0:0.1522:0.7109	.	342	P02750	A2GL_HUMAN	E	342;325	ENSP00000302621:A342E	ENSP00000302621:A342E	A	-	2	0	LRG1	4488971	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.496000	0.06436	-2.164000	0.00782	-0.282000	0.10007	GCA	LRG1	-	smart_Cys-rich_flank_reg_C	ENSG00000171236		0.577	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2		0	20	0	G	NM_052972		4537971	-1			no_errors	ENST00000306390	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	T	T	4537971	G	T	4537971	3	4	52	1	0	0	0	0	1	0	0	0	8977	1319	46	3	22	3	LRG1	19	4537971	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	553755	4537971	54591012	773	13113											
SAFB	6294	genome.wustl.edu	37	chr19	5653399	5653399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaaaagagacagtgaCgggaaaaaggagaagtcgag	18	4	14	5	2	1	4	0	2	1	2	2	8	1	5	0	2	0	0	0	2	5	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:5653399C>T	ENST00000292123.5	+	11	1601	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	SAFB_ENST00000454510.1_Silent_p.D429D|SAFB_ENST00000592224.1_Silent_p.D498D|SAFB_ENST00000588852.1_Silent_p.D498D|SAFB_ENST00000538656.1_Silent_p.D341D|SAFB_ENST00000433404.1_Silent_p.D328D	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	498					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAGACAGTGACGGGAAAAAGG	0.423																																					Colon(88;338 1345 6184 8214 20897)												0													57	54	55					19																	5653399		2203	4300	6503	SO:0001819	synonymous_variant	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1494C>T	19.37:g.5653399C>T			A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.D498	ENST00000292123.5	37	c.1494	CCDS12142.1	19																																																																																			SAFB	-	NULL	ENSG00000160633		0.423	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0	15	0	C			5653399	1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.048	T	T	5653399	C	T	5653399	2	4	52	1	0	0	0	0	0	0	0	1	13851	535	19	1		1	SAFB	19	5653399	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1115428	5653399	53475584	774	13114											
SLC25A41	284427	genome.wustl.edu	37	chr19	6430130	6430131	+	Frame_Shift_Ins	INS	-	-	C																															tcctggaccatgctctgtagINScccccccagcaggttggtga																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:6430130_6430131insC	ENST00000321510.6	-	3	473_474	c.405_406insG	c.(403-408)gggctafs	p.L136fs		NM_173637.3	NP_775908.2			solute carrier family 25, member 41											large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATGCTCTGTAGCCCCCCCAGCA	0.629																																																	0																																										SO:0001589	frameshift_variant	0			AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"Solute carriers"	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.406dupG	19.37:g.6430137_6430137dupC	ENSP00000322649:p.Leu136fs			Frame_Shift_Ins	INS	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L135fs	ENST00000321510.6	37	c.406_405	CCDS45937.1	19																																																																																			SLC25A41	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000181240		0.629	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000462222.1		0	30	0	-	NM_173637		6430131	-1	tier1		no_errors	ENST00000321510	ensembl	human	known	74_37	frame_shift_ins	17.11	63	13	INS	0.009:0.003	C	C	6430131	-	C	6430130	7	5	52	1	0	1	1	0	0	0	0	0	14551	962	34	0	726	0	SLC25A41	19	6430130	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	776731	6430130	52698853	775	13115											
DENND1C	79958	genome.wustl.edu	37	chr19	6475732	6475732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctcggcgagactggcGtgcactccaatgaggtaggg	8	7	14	12	3	1	2	1	1	0	1	3	3	2	2	2	4	1	2	2	4	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:6475732G>A	ENST00000381480.2	-	12	922	c.810C>T	c.(808-810)caC>caT	p.H270H	DENND1C_ENST00000591030.1_5'Flank|DENND1C_ENST00000543576.1_Silent_p.H226H	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	270	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CGAGACTGGCGTGCACTCCAA	0.687																																																	0													17	18	18					19																	6475732		2111	4204	6315	SO:0001819	synonymous_variant	0			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"DENN/MADD domain containing"	26225	protein-coding gene	gene with protein product		613634	"family with sequence similarity 31, member C"	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.810C>T	19.37:g.6475732G>A			B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.H270	ENST00000381480.2	37	c.810	CCDS45938.1	19																																																																																			DENND1C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000205744		0.687	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2	-	0	17	0	G	NM_024898		6475732	-1	tier1	-	no_errors	ENST00000381480	ensembl	human	known	74_37	silent	43.86	32	25	SNP	0.998	A	A	6475732	G	A	6475732	2	1	52	1	0	0	0	0	0	0	0	1	4442	1136	40	1		1	DENND1C	19	6475732	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	45602	6475732	52653251	776	13116											
PRAM1	84106	genome.wustl.edu	37	chr19	8563644	8563644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcggggtggcccccggcGctccggctgcagcagcttcc	2	7	15	17	4	0	0	0	0	0	0	2	0	2	0	4	5	4	5	4	5	0	2	rs369144041		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:8563644G>A	ENST00000423345.4	-	2	1568	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PRAM1_ENST00000255612.3_Missense_Mutation_p.R350C			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	398	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGCCCCCGGCGCTCCGGCTGC	0.672																																																	0													5	7	6					19																	8563644		2008	4123	6131	SO:0001583	missense	0			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1048C>T	19.37:g.8563644G>A	ENSP00000408342:p.Arg350Cys		Q8N6W7	Missense_Mutation	SNP	superfamily_SH3_domain	p.R350C	ENST00000423345.4	37	c.1048	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234131	0.22626	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.14022	2.54;2.54	4.51	-9.01	0.00744	.	1.072590	0.07279	N	0.870480	T	0.02767	0.0083	N	0.00237	-1.79	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.04013	0.001;0.001	T	0.54397	-0.8300	10	0.66056	D	0.02	.	10.1395	0.42728	0.1731:0.3942:0.4327:0.0	.	350;398	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	C	350	ENSP00000255612:R350C;ENSP00000408342:R350C	ENSP00000255612:R350C	R	-	1	0	PRAM1	8469644	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.637000	0.00407	-1.786000	0.01269	-1.202000	0.01658	CGC	PRAM1	-	NULL	ENSG00000133246		0.672	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	HGNC	protein_coding	OTTHUMT00000397040.3	-	0	46	0	G	NM_032152		8563644	-1	tier1	-	no_errors	ENST00000423345	ensembl	human	known	74_37	missense	33.80	47	24	SNP	0.000	A	A	8563644	G	A	8563644	3	1	52	1	0	0	0	0	1	0	0	0	12465	1087	38	1	997	1	PRAM1	19	8563644	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	2087912	8563644	50565339	777	13117											
MUC16	94025	genome.wustl.edu	37	chr19	8971684	8971684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttgtacctgtcacaTggatgtccaccaactggtag	9	10	8	14	0	1	0	1	0	0	0	2	1	2	1	5	2	2	2	5	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:8971684T>C	ENST00000397910.4	-	78	43111	c.42908A>G	c.(42907-42909)cAt>cGt	p.H14303R	MUC16_ENST00000380951.5_Missense_Mutation_p.H944R|MUC16_ENST00000596956.1_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14398	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCTGTCACATGGATGTCCAC	0.532																																																	0													76	76	76					19																	8971684		1919	4127	6046	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42908A>G	19.37:g.8971684T>C	ENSP00000381008:p.His14303Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.H14303R	ENST00000397910.4	37	c.42908	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.802|9.802	1.180834|1.180834	0.21787|0.21787	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.31510|.	1.49;1.49|.	3.99|3.99	0.738|0.738	0.18319|0.18319	.|.	0.415682|.	0.17855|.	N|.	0.159727|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.14661|0.14661	0.345|0.345	.|.	.|.	.|.	B;P|.	0.43662|.	0.259;0.814|.	B;P|.	0.58391|.	0.039;0.838|.	T|T	0.32508|0.32508	-0.9904|-0.9904	9|4	0.62326|.	D|.	0.03|.	.|.	6.049|6.049	0.19775|0.19775	0.0:0.326:0.0:0.674|0.0:0.326:0.0:0.674	.|.	21948;14303|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|V	14303;944|1126	ENSP00000381008:H14303R;ENSP00000370338:H944R|.	ENSP00000370338:H944R|.	H|M	-|-	2|1	0|0	MUC16|MUC16	8832684|8832684	0.027000|0.027000	0.19231|0.19231	0.267000|0.267000	0.24556|0.24556	0.150000|0.150000	0.21749|0.21749	0.663000|0.663000	0.25053|0.25053	-0.035000|-0.035000	0.13691|0.13691	-0.353000|-0.353000	0.07706|0.07706	CAT|ATG	MUC16	-	NULL	ENSG00000181143		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	57	0	T	NM_024690		8971684	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.573	C	C	8971684	T	C	8971684	3	2	52	1	0	0	0	0	1	0	0	0	10011	1464	51	4	643	4	MUC16	19	8971684	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	408040	8971684	50157299	778	13118											
ZNF317	57693	genome.wustl.edu	37	chr19	9271738	9271738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacacacgcaagagagaCgctacgaatgcgccgcctgc	13	4	11	13	5	0	3	0	0	0	3	0	5	0	3	2	0	4	2	2	0	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:9271738C>T	ENST00000247956.6	+	7	1722	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	ZNF317_ENST00000360385.3_Missense_Mutation_p.R441C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GCAAGAGAGACGCTACGAATG	0.537																																																	0													54	50	51					19																	9271738		2203	4300	6503	SO:0001583	missense	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1417C>T	19.37:g.9271738C>T	ENSP00000247956:p.Arg473Cys		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R473C	ENST00000247956.6	37	c.1417	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602777	0.46423	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.18960	2.18;2.18	2.85	2.85	0.33270	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.211058	0.25511	N	0.030180	T	0.27454	0.0674	L	0.28694	0.88	0.43803	D	0.996357	D;D	0.76494	0.999;0.995	P;P	0.62089	0.898;0.751	T	0.03121	-1.1070	10	0.87932	D	0	-34.3736	9.3723	0.38261	0.0:1.0:0.0:0.0	.	441;473	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	C	473;441	ENSP00000247956:R473C;ENSP00000353554:R441C	ENSP00000247956:R473C	R	+	1	0	ZNF317	9132738	0.002000	0.14202	0.100000	0.21137	0.115000	0.19883	1.137000	0.31479	1.926000	0.55796	0.491000	0.48974	CGC	ZNF317	-	pfscan_Znf_C2H2	ENSG00000130803		0.537	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1		0	21	0	C	NM_020933		9271738	1			no_errors	ENST00000247956	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.892	T	T	9271738	C	T	9271738	3	4	52	1	0	0	0	0	1	0	0	0	17883	536	19	1	1439	1	ZNF317	19	9271738	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	300054	9271738	49857245	779	13119											
OR7D2	162998	genome.wustl.edu	37	chr19	9296772	9296773	+	Frame_Shift_Ins	INS	-	-	T																															cacaggtctatttctccatgINSttttttcctattctggacac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:9296772_9296773insT	ENST00000344248.2	+	1	494_495	c.315_316insT	c.(316-318)tttfs	p.F106fs		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	106					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ATTTCTCCATGTTTTTTCCTAT	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.321dupT	19.37:g.9296778_9296778dupT	ENSP00000345563:p.Phe106fs		Q6IFJ7|Q8N133	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P107fs	ENST00000344248.2	37	c.315_316	CCDS32900.1	19																																																																																			OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188000		0.505	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1		0	84	0	-			9296773	1	tier1		no_errors	ENST00000344248	ensembl	human	known	74_37	frame_shift_ins	36.84	60	35	INS	0.000:0.000	T	T	9296773	-	T	9296772	7	5	52	1	0	1	1	0	0	0	0	0	11258	1377	48	0	317	0	OR7D2	19	9296772	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	25034	9296772	49832211	780	13120											
ICAM5	7087	genome.wustl.edu	37	chr19	10403406	10403406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagggagttccagccgcGgtcccggggcagcccgccca	5	4	16	16	4	0	0	0	0	0	0	2	2	2	2	5	5	2	2	5	5	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:10403406G>A	ENST00000221980.4	+	5	1143	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	360	Ig-like C2-type 4.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTCCAGCCGCGGTCCCGGGGC	0.657																																																	0													40	41	41					19																	10403406		2203	4300	6503	SO:0001819	synonymous_variant	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1080G>A	19.37:g.10403406G>A			Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.A360	ENST00000221980.4	37	c.1080	CCDS12233.1	19																																																																																			ICAM5	-	smart_Ig_sub	ENSG00000105376		0.657	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0	17	0	G	NM_003259		10403406	1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	41.51	31	22	SNP	0.000	A	A	10403406	G	A	10403406	2	1	52	1	0	0	0	0	0	0	0	1	7510	1103	39	1		1	ICAM5	19	10403406	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1106634	10403406	48725577	781	13121											
KEAP1	9817	genome.wustl.edu	37	chr19	10602788	10602788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcagcagcgcctggaCgtagaaccgtcgctgttcgc	6	6	14	15	6	0	1	0	0	0	1	2	2	0	2	3	2	3	5	3	2	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:10602788C>T	ENST00000171111.5	-	3	1337	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	KEAP1_ENST00000393623.2_Missense_Mutation_p.V264I|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	264	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGCGCCTGGACGTAGAACCGT	0.637																																																	0													63	61	61					19																	10602788		2203	4300	6503	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.790G>A	19.37:g.10602788C>T	ENSP00000171111:p.Val264Ile		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V264I	ENST00000171111.5	37	c.790	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748797	0.30955	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69040	-0.37;-0.37	5.36	4.31	0.51392	BTB/Kelch-associated (2);	0.187315	0.47093	N	0.000252	T	0.43567	0.1253	N	0.08118	0	0.41628	D	0.989001	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	10	0.49607	T	0.09	.	8.78	0.34785	0.0:0.8275:0.0:0.1725	.	264	Q14145	KEAP1_HUMAN	I	264	ENSP00000171111:V264I;ENSP00000377245:V264I	ENSP00000171111:V264I	V	-	1	0	KEAP1	10463788	0.989000	0.36119	0.994000	0.49952	0.451000	0.32288	0.678000	0.25277	2.523000	0.85059	0.313000	0.20887	GTC	KEAP1	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.637	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0	37	0	C	NM_012289		10602788	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	missense	36.08	62	35	SNP	0.998	T	T	10602788	C	T	10602788	3	4	52	1	0	0	0	0	1	0	0	0	8168	536	19	1	1100	1	KEAP1	19	10602788	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	199382	10602788	48526195	782	13122											
ZNF878	729747	genome.wustl.edu	37	chr19	12157236	12157236	+	Frame_Shift_Del	DEL	T	T	-																															tcaatgtactggttgttccaTttttttcctaaaatgcggac																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:12157236delT	ENST00000547628.1	-	3	275	c.138delA	c.(136-138)aaafs	p.K46fs	ZNF878_ENST00000602107.1_Frame_Shift_Del_p.K93fs|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Frame_Shift_Del_p.K46fs	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GGTTGTTCCATTTTTTTCCTA	0.338																																																	0													126	103	110					19																	12157236		1814	4081	5895	SO:0001589	frameshift_variant	0				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"Zinc fingers, C2H2-type", "-"	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.138delA	19.37:g.12157236delT	ENSP00000447931:p.Lys46fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K93fs	ENST00000547628.1	37	c.279	CCDS45984.2	19																																																																																			ZNF878	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000257446		0.338	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF878	HGNC	protein_coding	OTTHUMT00000403723.1		0	60	0	T	NM_001080404		12157236	-1	tier1		no_errors	ENST00000602107	ensembl	human	known	74_37	frame_shift_del	18.67	61	14	DEL	0.000	-	-	12157236	T	-	12157236	7	5	52	1	0	1	0	1	0	0	0	0	18244	1490	52	0	1465	0	ZNF878	19	12157236	Frame_Shift_Del	DEL	T	TCGA-L5-A43J-01A-12D-A247-09	1554448	12157236	46971747	783	13123											
GADD45GIP1	90480	genome.wustl.edu	37	chr19	13065136	13065138	+	In_Frame_Del	DEL	CTT	CTT	-																															tccttgaggcgcttgcgctcCttcttctctaggtcctggag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:13065136_13065138delCTT	ENST00000316939.1	-	2	576_578	c.553_555delAAG	c.(553-555)aagdel	p.K185del		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	185					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						GCTTGCGCTCCTTCTTCTCTAGG	0.635																																																	0																																										SO:0001651	inframe_deletion	0			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"papillomavirus L2 interacting nuclear protein 1", "CKII beta binding protein 2", "CR6 interacting factor 1", "p53-responsive gene 6"	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.553_555delAAG	19.37:g.13065139_13065141delCTT	ENSP00000323065:p.Lys185del		Q8IVM3|Q8TE51|Q969P9|Q9BSM6	In_Frame_Del	DEL	pfam_Damage-induce-interacting_prot	p.K185in_frame_del	ENST00000316939.1	37	c.555_553	CCDS12290.1	19																																																																																			GADD45GIP1	-	pfam_Damage-induce-interacting_prot	ENSG00000179271		0.635	GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GADD45GIP1	HGNC	protein_coding	OTTHUMT00000452759.2		0	55	0	CTT	NM_052850		13065138	-1	tier1		no_errors	ENST00000316939	ensembl	human	known	74_37	in_frame_del	33.33	78	39	DEL	1.000:1.000:1.000	-	-	13065138	CTT	-	13065136	7	5	52	1	0	1	0	1	0	0	0	0	6208	680	24	0	117	0	GADD45GIP1	19	13065136	In_Frame_Del	DEL	CTT	TCGA-L5-A43J-01A-12D-A247-09	907900	13065136	46063847	784	13124											
CCDC130	81576	genome.wustl.edu	37	chr19	13873201	13873201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccgctggtgcccgagaCggaagatgaccgcaagctgg	9	5	14	13	4	0	3	0	1	0	2	1	5	1	4	3	3	2	3	3	3	2	0	rs377239448		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:13873201C>T	ENST00000586600.1	+	10	1165	c.662C>T	c.(661-663)aCg>aTg	p.T221M	CCDC130_ENST00000221554.8_Missense_Mutation_p.T221M|MRI1_ENST00000040663.6_5'Flank|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130	221					response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GTGCCCGAGACGGAAGATGAC	0.612																																																	0								C	MET/THR	0,4406		0,0,2203	59	64	62		662	4.7	0.8	19		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC130	NM_030818.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	221/397	13873201	1,13005	2203	4300	6503	SO:0001583	missense	0			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.662C>T	19.37:g.13873201C>T	ENSP00000465776:p.Thr221Met		Q9BQ72	Missense_Mutation	SNP	pfam_CWC16	p.T221M	ENST00000586600.1	37	c.662	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309883	0.60414	0.0	1.16E-4	ENSG00000104957	ENST00000221554	T	0.31769	1.48	4.73	4.73	0.59995	.	0.318910	0.32655	N	0.005810	T	0.51686	0.1689	M	0.83118	2.625	0.80722	D	1	P;P	0.51933	0.949;0.949	P;P	0.58970	0.849;0.788	T	0.55970	-0.8056	10	0.54805	T	0.06	-16.0819	10.5273	0.44957	0.1934:0.8066:0.0:0.0	.	221;221	B3KUZ1;P13994	.;CC130_HUMAN	M	221	ENSP00000221554:T221M	ENSP00000221554:T221M	T	+	2	0	CCDC130	13734201	0.529000	0.26322	0.780000	0.31762	0.719000	0.41307	1.988000	0.40697	2.208000	0.71279	0.555000	0.69702	ACG	CCDC130	-	pfam_CWC16	ENSG00000104957		0.612	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	HGNC	protein_coding	OTTHUMT00000453216.2	-	0	26	0	C	NM_030818		13873201	1	tier1	-	no_errors	ENST00000221554	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.872	T	T	13873201	C	T	13873201	3	4	52	1	0	0	0	0	1	0	0	0	2773	536	19	1	692	1	CCDC130	19	13873201	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	808065	13873201	45255782	785	13125											
PRKACA	5566	genome.wustl.edu	37	chr19	14208488	14208488	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaccgaagtctgtcaccTgtgggcacaagaacaggcag	13	5	12	11	2	2	1	1	0	1	1	2	3	2	1	2	2	2	2	2	2	4	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:14208488T>C	ENST00000308677.4	-	7	743		c.e7-2		PRKACA_ENST00000589994.1_Splice_Site|PRKACA_ENST00000350356.3_Splice_Site|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GTCTGTCACCTGTGGGCACAA	0.637																																																	0													54	58	57					19																	14208488		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.547-2A>G	19.37:g.14208488T>C			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Splice_Site	SNP	-	e7-2	ENST00000308677.4	37	c.547-2	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812781	0.70912	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0515	0.53509	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKACA	14069488	0.998000	0.40836	0.991000	0.47740	0.849000	0.48306	3.344000	0.52174	1.734000	0.51633	0.472000	0.43445	.	PRKACA	-	-	ENSG00000072062		0.637	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	-	0	32	0	T	NM_002730	Intron	14208488	-1	tier1	-	no_errors	ENST00000308677	ensembl	human	known	74_37	splice_site	40.62	38	26	SNP	1.000	C	C	14208488	T	C	14208488	5	2	52	1	0	0	0	0	0	0	1	0	12539	1594	55	4	526	4	PRKACA	19	14208488	Splice_Site	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	335287	14208488	44920495	786	13126											
NDUFB7	4713	genome.wustl.edu	37	chr19	14677646	14677646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttggggaagctgtcaCgcttgcacttgagcagccgg	8	8	16	9	2	1	1	1	1	0	0	1	3	1	3	1	4	4	5	1	4	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:14677646C>T	ENST00000215565.2	-	2	273	c.212G>A	c.(211-213)cGt>cAt	p.R71H		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	71					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GAAGCTGTCACGCTTGCACTT	0.652																																																	0													57	47	50					19																	14677646		2187	4276	6463	SO:0001583	missense	0				CCDS12314.1	19p13.12	2011-07-04	2002-08-29		ENSG00000099795	ENSG00000099795		"Mitochondrial respiratory chain complex / Complex I"	7702	protein-coding gene	gene with protein product	"NADH-ubiquinone oxidoreductase B18 subunit", "complex I B18 subunit"	603842	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7 (18kD, B18)"			9763677, 10830904	Standard	NM_004146		Approved	B18, CI-B18, MGC2480	uc002mzg.3	P17568		ENST00000215565.2:c.212G>A	19.37:g.14677646C>T	ENSP00000215565:p.Arg71His		Q6ICN9|Q9UI16	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B18_su	p.R71H	ENST00000215565.2	37	c.212	CCDS12314.1	19	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568208	0.86439	.	.	ENSG00000099795	ENST00000215565	T	0.50001	0.76	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.73430	2.235	0.80722	D	1	P	0.50943	0.94	P	0.47044	0.535	T	0.61806	-0.6987	10	0.51188	T	0.08	-25.8465	15.1531	0.72717	0.0:1.0:0.0:0.0	.	71	P17568	NDUB7_HUMAN	H	71	ENSP00000215565:R71H	ENSP00000215565:R71H	R	-	2	0	NDUFB7	14538646	1.000000	0.71417	0.944000	0.38274	0.576000	0.36127	6.981000	0.76166	2.441000	0.82636	0.585000	0.79938	CGT	NDUFB7	-	pfam_NADH_UbQ_OxRdtase_B18_su	ENSG00000099795		0.652	NDUFB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB7	HGNC	protein_coding	OTTHUMT00000466025.1	-	0	36	0	C	NM_004146		14677646	-1	tier1	-	no_errors	ENST00000215565	ensembl	human	known	74_37	missense	18.03	50	11	SNP	0.998	T	T	14677646	C	T	14677646	3	4	52	1	0	0	0	0	1	0	0	0	10325	536	19	1	209	1	NDUFB7	19	14677646	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	469158	14677646	44451337	787	13127											
SYDE1	85360	genome.wustl.edu	37	chr19	15222161	15222161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtggctcagcggcagTgaagaaagagcttcgggatg	9	10	15	7	2	2	3	1	1	1	2	3	4	2	4	0	3	2	3	0	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:15222161T>C	ENST00000342784.2	+	5	1359	c.1328T>C	c.(1327-1329)gTg>gCg	p.V443A	SYDE1_ENST00000600440.1_Missense_Mutation_p.V376A|SYDE1_ENST00000600252.1_Missense_Mutation_p.V100A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	443	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						TCAGCGGCAGTGAAGAAAGAG	0.567																																																	0													150	119	129					19																	15222161		2203	4300	6503	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1328T>C	19.37:g.15222161T>C	ENSP00000341489:p.Val443Ala		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V443A	ENST00000342784.2	37	c.1328	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618155	0.66787	.	.	ENSG00000105137	ENST00000342784	T	0.18338	2.22	5.3	5.3	0.74995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.079753	0.49305	D	0.000146	T	0.30008	0.0751	L	0.46885	1.475	0.52501	D	0.999951	P;D;P	0.69078	0.872;0.997;0.872	P;D;P	0.64042	0.679;0.921;0.679	T	0.02220	-1.1193	10	0.21540	T	0.41	.	13.1938	0.59726	0.0:0.0:0.0:1.0	.	376;376;443	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	A	443	ENSP00000341489:V443A	ENSP00000341489:V443A	V	+	2	0	SYDE1	15083161	1.000000	0.71417	0.895000	0.35142	0.683000	0.39861	5.811000	0.69187	2.013000	0.59113	0.459000	0.35465	GTG	SYDE1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000105137		0.567	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	-	0	74	0	T	NM_033025		15222161	1	tier1	-	no_errors	ENST00000342784	ensembl	human	known	74_37	missense	27.18	74	28	SNP	1.000	C	C	15222161	T	C	15222161	3	2	52	1	0	0	0	0	1	0	0	0	15482	1696	59	4	1346	4	SYDE1	19	15222161	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	544515	15222161	43906822	788	13128											
CYP4F3	4051	genome.wustl.edu	37	chr19	15769134	15769134	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagagcctgaggctgcaTcccccagtccctgccgtctc	7	7	11	16	1	1	2	0	1	1	1	4	3	3	2	5	2	3	2	5	2	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:15769134T>C	ENST00000221307.8	+	10	1223	c.1176T>C	c.(1174-1176)caT>caC	p.H392H	CYP4F3_ENST00000586182.2_Silent_p.H392H|CYP4F3_ENST00000585846.1_Silent_p.H392H|CYP4F3_ENST00000591058.1_Silent_p.H392H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	392					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGAGGCTGCATCCCCCAGTCC	0.622																																																	0													71	72	72					19																	15769134		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"Cytochrome P450s"	2646	protein-coding gene	gene with protein product		601270	"cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1176T>C	19.37:g.15769134T>C			B7Z8Z3|O60634|Q5U740	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.H392	ENST00000221307.8	37	c.1176	CCDS12332.1	19																																																																																			CYP4F3	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000186529		0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP4F3	HGNC	protein_coding	OTTHUMT00000460819.3	-	0	53	0	T	NM_000896		15769134	1	tier1	-	no_errors	ENST00000221307	ensembl	human	known	74_37	silent	40.45	53	36	SNP	0.894	C	C	15769134	T	C	15769134	2	2	52	1	0	0	0	0	0	0	0	1	4199	1432	50	4		4	CYP4F3	19	15769134	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	546973	15769134	43359849	789	13129											
AP1M1	8907	genome.wustl.edu	37	chr19	16345014	16345014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacctgtgccccaggtgcGctacctgaagatcattgaga	9	9	11	12	1	1	3	1	2	0	2	1	4	1	3	4	1	4	2	4	1	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:16345014G>A	ENST00000291439.3	+	11	1627	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	AP1M1_ENST00000541844.1_Missense_Mutation_p.R321H|AP1M1_ENST00000444449.2_Missense_Mutation_p.R405H|AP1M1_ENST00000590756.1_Missense_Mutation_p.R321H|AP1M1_ENST00000429941.2_Missense_Mutation_p.R340H	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	393	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCCAGGTGCGCTACCTGAAG	0.647																																																	0													63	56	58					19																	16345014		2203	4300	6503	SO:0001583	missense	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.1178G>A	19.37:g.16345014G>A	ENSP00000291439:p.Arg393His		Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.R405H	ENST00000291439.3	37	c.1214	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657095	0.88154	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	3.58	3.58	0.41010	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.93978	3.48	0.80722	D	1	D;P;P	0.57899	0.981;0.864;0.864	P;P;P	0.54312	0.748;0.458;0.458	T	0.66771	-0.5839	10	0.72032	D	0.01	-29.6875	14.7335	0.69399	0.0:0.0:1.0:0.0	.	340;405;393	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	H	405;393;321;340	ENSP00000388996:R405H;ENSP00000291439:R393H;ENSP00000445682:R321H;ENSP00000411498:R340H	ENSP00000291439:R393H	R	+	2	0	AP1M1	16206014	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.354000	0.97083	2.017000	0.59298	0.561000	0.74099	CGC	AP1M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C	ENSG00000072958		0.647	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	-	0	57	0	G	NM_032493		16345014	1	tier1	-	no_errors	ENST00000444449	ensembl	human	known	74_37	missense	39.32	71	46	SNP	1.000	A	A	16345014	G	A	16345014	3	1	52	1	0	0	0	0	1	0	0	0	734	1087	38	1	1260	1	AP1M1	19	16345014	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	575880	16345014	42783969	790	13130											
RPL18A	6142	genome.wustl.edu	37	chr19	17972276	17972276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggagattgtctactgtGggcaggtatggagaggccgg	8	8	19	6	1	1	2	0	0	1	2	1	4	1	2	1	7	1	2	1	7	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:17972276G>T	ENST00000222247.5	+	2	274	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	RPL18A_ENST00000600147.1_Missense_Mutation_p.G65W|RPL18A_ENST00000599898.1_Missense_Mutation_p.G26W|SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Missense_Mutation_p.G36W	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	65					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TGTCTACTGTGGGCAGGTATG	0.507																																																	0													31	33	32					19																	17972276		2203	4300	6503	SO:0001583	missense	0			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"L ribosomal proteins"	10311	protein-coding gene	gene with protein product	"60S ribosomal protein L18a", "ribosomal protein L18a-like protein"	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.193G>T	19.37:g.17972276G>T	ENSP00000222247:p.Gly65Trp			Missense_Mutation	SNP	pfam_Ribosomal_L18a/LX	p.G65W	ENST00000222247.5	37	c.193	CCDS12367.1	19	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311497	0.40895	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.11	3.07	0.35406	Ribosomal protein L18a/LX (1);	0.000000	0.85682	U	0.000000	T	0.64789	0.2630	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.65845	-0.6069	9	0.87932	D	0	.	9.8573	0.41092	0.1034:0.0:0.8966:0.0	.	65	Q02543	RL18A_HUMAN	W	65	.	ENSP00000222247:G65W	G	+	1	0	RPL18A	17833276	1.000000	0.71417	0.419000	0.26584	0.043000	0.13939	9.415000	0.97375	0.866000	0.35629	-0.251000	0.11542	GGG	RPL18A	-	pfam_Ribosomal_L18a/LX	ENSG00000105640		0.507	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL18A	HGNC	protein_coding	OTTHUMT00000466679.1	-	0	12	0	G	NM_000980		17972276	1	tier1	-	no_errors	ENST00000222247	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.999	T	T	17972276	G	T	17972276	3	4	52	1	0	0	0	0	1	0	0	0	13610	1348	47	3	199	3	RPL18A	19	17972276	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1627262	17972276	41156707	791	13131											
KCNN1	3780	genome.wustl.edu	37	chr19	18100628	18100628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggttcggaaacaccagcGtaagttcctccaagccatcc	10	7	9	15	3	0	0	0	0	0	0	4	1	3	1	6	2	3	3	6	2	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:18100628G>A	ENST00000222249.9	+	8	1593	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	425	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	AAACACCAGCGTAAGTTCCTC	0.567																																																	0													90	97	95					19																	18100628		2140	4275	6415	SO:0001583	missense	0			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1274G>A	19.37:g.18100628G>A	ENSP00000476519:p.Arg425His		Q5KR10|Q6DJU4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.R425H	ENST00000222249.9	37	c.1274		19	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031533	0.93575	.	.	ENSG00000105642	ENST00000222249	.	.	.	4.72	4.72	0.59763	Calmodulin-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.83427	0.5252	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.86915	0.2063	9	0.87932	D	0	-8.3402	15.1946	0.73078	0.0:0.0:1.0:0.0	.	425	Q92952	KCNN1_HUMAN	H	442	.	ENSP00000222249:R442H	R	+	2	0	KCNN1	17961628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.217000	0.95160	2.173000	0.68751	0.561000	0.74099	CGT	KCNN1	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom	ENSG00000105642		0.567	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	HGNC	protein_coding	OTTHUMT00000471896.2	-	0	46	0	G	NM_002248		18100628	1	tier1	-	no_errors	ENST00000222249	ensembl	human	known	74_37	missense	35.94	41	23	SNP	1.000	A	A	18100628	G	A	18100628	3	1	52	1	0	0	0	0	1	0	0	0	8105	1145	40	1	1296	1	KCNN1	19	18100628	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	128352	18100628	41028355	792	13132											
UPF1	5976	genome.wustl.edu	37	chr19	18967000	18967000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtgcttccagcatgcCtgagctgcagaagctgcagc	8	9	12	12	0	0	2	0	1	0	1	1	2	1	2	2	0	9	7	2	0	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:18967000C>A	ENST00000599848.1	+	13	1957	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H	UPF1_ENST00000262803.5_Missense_Mutation_p.P572H			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	583					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCCAGCATGCCTGAGCTGCAG	0.602																																																	0													50	48	49					19																	18967000		2203	4300	6503	SO:0001583	missense	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1748C>A	19.37:g.18967000C>A	ENSP00000470142:p.Pro583His		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.P583H	ENST00000599848.1	37	c.1748		19	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946321	0.53079	.	.	ENSG00000005007	ENST00000262803	D	0.81996	-1.56	4.29	4.29	0.51040	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	L	0.43757	1.38	0.80722	D	1	B;B	0.18741	0.03;0.012	B;B	0.17098	0.017;0.017	T	0.75602	-0.3261	10	0.44086	T	0.13	-22.1753	16.0865	0.81056	0.0:1.0:0.0:0.0	.	583;572	Q92900;Q92900-2	RENT1_HUMAN;.	H	572	ENSP00000262803:P572H	ENSP00000262803:P572H	P	+	2	0	UPF1	18828000	1.000000	0.71417	0.956000	0.39512	0.929000	0.56500	7.245000	0.78237	2.102000	0.63906	0.655000	0.94253	CCT	UPF1	-	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	ENSG00000005007		0.602	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1	-	0	53	0	C	NM_002911		18967000	1	tier1	-	no_errors	ENST00000599848	ensembl	human	known	74_37	missense	61.82	21	34	SNP	1.000	A	A	18967000	C	A	18967000	3	1	52	1	0	0	0	0	1	0	0	0	17052	681	24	3	1765	3	UPF1	19	18967000	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	866372	18967000	40161983	793	13133											
CD22	933	genome.wustl.edu	37	chr19	35828664	35828664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcctccagacacccCgaagttggagatcaaggtca	10	8	9	14	1	3	2	2	0	1	2	5	4	5	2	4	2	1	2	4	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:35828664C>T	ENST00000085219.5	+	5	791	c.725C>T	c.(724-726)cCg>cTg	p.P242L	CD22_ENST00000536635.2_Missense_Mutation_p.P242L|CD22_ENST00000341773.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.P70L|CD22_ENST00000594250.1_Intron|CD22_ENST00000544992.2_Missense_Mutation_p.P242L|CD22_ENST00000270311.6_Missense_Mutation_p.P122L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	242	Ig-like C2-type 2.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCAGACACCCCGAAGTTGGAG	0.597																																					Ovarian(42;1009 1133 23674 26041)												0													42	38	40					19																	35828664		2203	4300	6503	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.725C>T	19.37:g.35828664C>T	ENSP00000085219:p.Pro242Leu		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P242L	ENST00000085219.5	37	c.725	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456216	0.63401	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44	4.87	4.87	0.63330	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	D	0.000110	D	0.98065	0.9362	M	0.76002	2.32	0.41111	D	0.985742	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.99032	1.0821	10	0.87932	D	0	.	13.5142	0.61530	0.0:1.0:0.0:0.0	.	70;242;242;242	Q32M46;F5GYU4;F5H7U3;P20273	.;.;.;CD22_HUMAN	L	242;242;242;122;70	ENSP00000085219:P242L;ENSP00000442279:P242L;ENSP00000441237:P242L;ENSP00000270311:P122L;ENSP00000403822:P70L	ENSP00000085219:P242L	P	+	2	0	CD22	40520504	0.889000	0.30405	0.158000	0.22627	0.010000	0.07245	3.735000	0.55044	2.258000	0.74832	0.467000	0.42956	CCG	CD22	-	pfscan_Ig-like_dom	ENSG00000012124		0.597	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	-	0	17	0	C	NM_001771		35828664	1	tier1	-	no_errors	ENST00000085219	ensembl	human	known	74_37	missense	63.64	4	7	SNP	0.520	T	T	35828664	C	T	35828664	3	4	52	1	0	0	0	0	1	0	0	0	2992	652	23	1	739	1	CD22	19	35828664	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	16861664	35828664	23300319	794	13134											
RYR1	6261	genome.wustl.edu	37	chr19	38937180	38937180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagtgtctgaccatttccCctgctgacagtgatgaccag	9	11	10	11	0	1	5	0	5	1	0	2	5	2	5	4	0	1	1	4	0	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:38937180C>A	ENST00000359596.3	+	8	700	c.700C>A	c.(700-702)Cct>Act	p.P234T	RYR1_ENST00000355481.4_Missense_Mutation_p.P234T|RYR1_ENST00000360985.3_Missense_Mutation_p.P234T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	234	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACCATTTCCCCTGCTGACAG	0.592																																																	0													99	82	88					19																	38937180		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.700C>A	19.37:g.38937180C>A	ENSP00000352608:p.Pro234Thr		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P234T	ENST00000359596.3	37	c.700	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	9.530	1.110584	0.20714	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.85773	-2.03;-2.03;-2.03	5.03	-2.78	0.05859	MIR motif (2);MIR (2);	0.514536	0.17182	U	0.183833	T	0.54382	0.1855	N	0.01705	-0.755	0.09310	N	1	B;B	0.25169	0.119;0.05	B;B	0.28385	0.041;0.089	T	0.53975	-0.8362	10	0.15952	T	0.53	.	1.3014	0.02080	0.1248:0.2929:0.2736:0.3086	.	234;234	P21817-2;P21817	.;RYR1_HUMAN	T	234	ENSP00000352608:P234T;ENSP00000347667:P234T;ENSP00000354254:P234T	ENSP00000347667:P234T	P	+	1	0	RYR1	43629020	0.000000	0.05858	0.223000	0.23860	0.976000	0.68499	-0.165000	0.09968	-0.193000	0.10415	0.563000	0.77884	CCT	RYR1	-	pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif	ENSG00000196218		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	40	0	C			38937180	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.063	A	A	38937180	C	A	38937180	3	1	52	1	0	0	0	0	1	0	0	0	13813	623	22	3	730	3	RYR1	19	38937180	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3108516	38937180	20191803	795	13135											
FCGBP	8857	genome.wustl.edu	37	chr19	40392611	40392611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgggcaggtgggcggCggcaggcagggagagtcggg	5	2	24	10	5	0	1	0	0	0	1	1	2	0	1	1	9	0	3	1	9	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:40392611C>T	ENST00000221347.6	-	16	7900	c.7893G>A	c.(7891-7893)ccG>ccA	p.P2631P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2631	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTGGGCGGCGGCAGGCAGG	0.647																																																	0													25	30	29					19																	40392611		2185	4296	6481	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7893G>A	19.37:g.40392611C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P2631	ENST00000221347.6	37	c.7893	CCDS12546.1	19																																																																																			FCGBP	-	NULL	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	98	0	C	NM_003890		40392611	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	29.17	68	28	SNP	0.004	T	T	40392611	C	T	40392611	2	4	52	1	0	0	0	0	0	0	0	1	5800	755	27	1		1	FCGBP	19	40392611	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1455431	40392611	18736372	796	13136											
ITPKC	80271	genome.wustl.edu	37	chr19	41223790	41223791	+	Frame_Shift_Ins	INS	-	-	A																															catatactgatggctcccagINSaaaaaacaggatactgaagc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:41223790_41223791insA	ENST00000263370.2	+	1	783_784	c.750_751insA	c.(751-753)aaafs	p.K251fs	ADCK4_ENST00000450541.1_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	251					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGGCTCCCAGAAAAAACAGGA	0.495																																																	0																																										SO:0001589	frameshift_variant	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.756dupA	19.37:g.41223796_41223796dupA	ENSP00000263370:p.Lys251fs		Q9UE25|Q9Y475	Frame_Shift_Ins	INS	pfam_IPK	p.Q252fs	ENST00000263370.2	37	c.750_751	CCDS12563.1	19																																																																																			ITPKC	-	NULL	ENSG00000086544		0.495	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1		0	23	0	-	NM_025194		41223791	1	tier1		no_errors	ENST00000263370	ensembl	human	known	74_37	frame_shift_ins	40.00	15	10	INS	0.002:0.001	A	A	41223791	-	A	41223790	7	5	52	1	0	1	1	0	0	0	0	0	7946	933	33	0	752	0	ITPKC	19	41223790	Frame_Shift_Ins	INS	-	TCGA-L5-A43J-01A-12D-A247-09	831179	41223790	17905193	797	13137											
RTN2	6253	genome.wustl.edu	37	chr19	45996513	45996513	+	Frame_Shift_Del	DEL	G	G	-																															gaacccggaggacaggagtaGggggggtggggcccctttgg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:45996513delG	ENST00000245923.4	-	5	1173	c.938delC	c.(937-939)cctfs	p.P313fs	RTN2_ENST00000590526.1_Frame_Shift_Del_p.P39fs|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	313					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GACAGGAGTAGGGGGGGTGGG	0.567																																																	0													58	68	65					19																	45996513		2203	4300	6503	SO:0001589	frameshift_variant	0			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.938delC	19.37:g.45996513delG	ENSP00000245923:p.Pro313fs		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Frame_Shift_Del	DEL	pfam_Reticulon,pfscan_Reticulon	p.P313fs	ENST00000245923.4	37	c.938	CCDS12665.1	19																																																																																			RTN2	-	NULL	ENSG00000125744		0.567	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1		0	34	0	G	NM_005619		45996513	-1	tier1		no_errors	ENST00000245923	ensembl	human	known	74_37	frame_shift_del	44.00	14	11	DEL	0.005	-	-	45996513	G	-	45996513	7	5	52	1	0	1	0	1	0	0	0	0	13771	1000	35	0	727	0	RTN2	19	45996513	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	4772723	45996513	13132470	798	13138											
SYMPK	8189	genome.wustl.edu	37	chr19	46328449	46328449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgctcaatgaccctcaGcaccgtccgcttgatgtcgg	6	9	11	15	4	2	2	2	2	0	0	4	2	3	2	3	2	2	4	3	2	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:46328449G>A	ENST00000245934.7	-	18	2714	c.2470C>T	c.(2470-2472)Ctg>Ttg	p.L824L	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	824					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGACCCTCAGCACCGTCCGC	0.642																																																	0													124	92	103					19																	46328449		2203	4300	6503	SO:0001819	synonymous_variant	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2470C>T	19.37:g.46328449G>A			O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.L824	ENST00000245934.7	37	c.2470	CCDS12676.2	19																																																																																			SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.642	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	-	0	53	0	G	NM_004819		46328449	-1	tier1	-	no_errors	ENST00000245934	ensembl	human	known	74_37	silent	62.73	41	69	SNP	1.000	A	A	46328449	G	A	46328449	2	1	52	1	0	0	0	0	0	0	0	1	15486	962	34	3		3	SYMPK	19	46328449	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	331936	46328449	12800534	799	13139											
CCDC8	83987	genome.wustl.edu	37	chr19	46914706	46914706	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcagctgagacttcAgcttcctggatacctggggc	6	10	13	12	0	1	1	1	1	0	1	2	3	2	2	3	4	3	3	3	4	1	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:46914706A>G	ENST00000307522.3	-	1	2135	c.1362T>C	c.(1360-1362)gcT>gcC	p.A454A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	454					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGAGACTTCAGCTTCCTGGA	0.617																																																	0													57	55	56					19																	46914706		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1362T>C	19.37:g.46914706A>G			Q8TB26	Silent	SNP	NULL	p.A454	ENST00000307522.3	37	c.1362	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082831	0.36758	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.7	-7.39	0.01402	.	.	.	.	.	T	0.31040	0.0784	.	.	.	0.25941	N	0.982879	.	.	.	.	.	.	T	0.34403	-0.9830	5	0.30078	T	0.28	-2.4865	10.007	0.41964	0.1669:0.1022:0.0:0.731	.	.	.	.	P	301	.	ENSP00000441180:L301P	L	-	2	0	CCDC8	51606546	0.000000	0.05858	0.001000	0.08648	0.787000	0.44495	-2.189000	0.01248	-2.139000	0.00807	0.459000	0.35465	CTG	CCDC8	-	NULL	ENSG00000169515		0.617	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	-	0	21	0	A	NM_032040		46914706	-1	tier1	-	no_errors	ENST00000307522	ensembl	human	known	74_37	silent	17.86	46	10	SNP	0.004	G	G	46914706	A	G	46914706	2	3	52	1	0	0	0	0	0	0	0	1	2860	175	7	4		4	CCDC8	19	46914706	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	586257	46914706	12214277	800	13140											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47423886	47423886	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctgtgaactctttcCagacgccaacatttcagccc	8	11	7	15	1	2	2	1	1	1	1	4	2	4	2	4	1	3	1	4	1	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:47423886C>T	ENST00000404338.3	+	1	1954	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	652					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GAACTCTTTCCAGACGCCAAC	0.438																																																	0													67	67	67					19																	47423886		1888	4129	6017	SO:0001587	stop_gained	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1954C>T	19.37:g.47423886C>T	ENSP00000385720:p.Gln652*		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q652*	ENST00000404338.3	37	c.1954	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.039260	0.97226	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.89	5.89	0.94794	.	0.152400	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.979	19.0194	0.92906	0.0:1.0:0.0:0.0	.	.	.	.	X	652	.	ENSP00000324820:Q652X	Q	+	1	0	ARHGAP35	52115726	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.276000	0.51646	2.790000	0.95986	0.655000	0.94253	CAG	ARHGAP35	-	NULL	ENSG00000160007		0.438	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	-	0	21	0	C	NM_004491		47423886	1	tier1	-	no_errors	ENST00000404338	ensembl	human	known	74_37	nonsense	72.73	6	16	SNP	1.000	T	T	47423886	C	T	47423886	4	4	52	1	0	0	0	0	0	1	0	0	6822	595	21	3	1956	3	ARHGAP35	19	47423886	Nonsense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	509180	47423886	11705097	801	13141											
KCNC3	3748	genome.wustl.edu	37	chr19	50824036	50824036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccggatccccattggggcGaggatctgcatcccaagggg	7	7	15	12	2	1	0	0	0	1	0	3	3	3	2	4	6	2	1	4	6	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:50824036G>A	ENST00000477616.1	-	3	2278	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	KCNC3_ENST00000474951.1_5'UTR|KCNC3_ENST00000391818.2_5'UTR|KCNC3_ENST00000376959.2_Missense_Mutation_p.R662C	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	662					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCATTGGGGCGAGGATCTGCA	0.632																																					Melanoma(91;1496 2324 50908)												0													29	29	29					19																	50824036		2203	4300	6503	SO:0001583	missense	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1984C>T	19.37:g.50824036G>A	ENSP00000434241:p.Arg662Cys			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.R662C	ENST00000477616.1	37	c.1984	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168515	0.57584	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98135	-4.74;-4.74	2.72	2.72	0.32119	.	8.724180	0.01204	U	0.007671	D	0.94810	0.8324	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.981	P;B	0.48677	0.586;0.136	D	0.89675	0.3886	10	0.87932	D	0	.	6.9932	0.24767	0.0:0.0:0.7282:0.2718	.	662;662	Q14003;E7ETH1	KCNC3_HUMAN;.	C	662;662;476	ENSP00000366158:R662C;ENSP00000434241:R662C	ENSP00000366158:R662C	R	-	1	0	KCNC3	55515848	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	5.215000	0.65241	1.540000	0.49301	0.460000	0.39030	CGC	KCNC3	-	NULL	ENSG00000131398		0.632	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	-	0	75	0	G	NM_004977		50824036	-1	tier1	-	no_errors	ENST00000477616	ensembl	human	known	74_37	missense	78.01	31	110	SNP	1.000	A	A	50824036	G	A	50824036	3	1	52	1	0	0	0	0	1	0	0	0	8043	1058	37	1	297	1	KCNC3	19	50824036	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3400150	50824036	8304947	802	13142											
GPR32	2854	genome.wustl.edu	37	chr19	51274615	51274615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggtccatgccaaccGgcccaagaggctgctgctgg	6	6	16	13	1	0	1	0	0	0	1	1	1	1	1	4	5	4	4	4	5	2	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:51274615G>A	ENST00000270590.4	+	1	895	c.758G>A	c.(757-759)cGg>cAg	p.R253Q		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	253					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATGCCAACCGGCCCAAGAGG	0.617																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													52	57	55					19																	51274615		2203	4300	6503	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.758G>A	19.37:g.51274615G>A	ENSP00000270590:p.Arg253Gln		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.R253Q	ENST00000270590.4	37	c.758	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282736	0.40394	.	.	ENSG00000142511	ENST00000270590	T	0.40225	1.04	2.56	0.194	0.15143	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.52741	0.1753	L	0.60957	1.885	0.22500	N	0.999043	D	0.71674	0.998	D	0.68483	0.958	T	0.38866	-0.9641	9	0.72032	D	0.01	.	5.6593	0.17660	0.4314:0.0:0.5686:0.0	.	253	O75388	GPR32_HUMAN	Q	253	ENSP00000270590:R253Q	ENSP00000270590:R253Q	R	+	2	0	GPR32	55966427	0.004000	0.15560	0.002000	0.10522	0.448000	0.32197	0.606000	0.24194	-0.023000	0.13963	-0.698000	0.03680	CGG	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt	ENSG00000142511		0.617	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0	65	0	G			51274615	1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	66.22	25	49	SNP	0.887	A	A	51274615	G	A	51274615	3	1	52	1	0	0	0	0	1	0	0	0	6714	1116	39	1	760	1	GPR32	19	51274615	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	450579	51274615	7854368	803	13143											
ZNF845	91664	genome.wustl.edu	37	chr19	53854383	53854383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcatctgcctgaactccAcatgtttcagaccgaaggga	10	10	9	12	2	2	2	1	1	1	1	4	4	3	3	3	1	2	2	3	1	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:53854383A>G	ENST00000595091.1	+	5	674	c.455A>G	c.(454-456)cAc>cGc	p.H152R	ZNF845_ENST00000458035.1_Missense_Mutation_p.H152R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CCTGAACTCCACATGTTTCAG	0.418																																																	0													68	48	54					19																	53854383		692	1591	2283	SO:0001583	missense	0			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"Zinc fingers, C2H2-type", "-"	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.455A>G	19.37:g.53854383A>G	ENSP00000470005:p.His152Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H152R	ENST00000595091.1	37	c.455	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	A	2.674	-0.276996	0.05679	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.06449	3.3	1.2	0.0443	0.14225	.	.	.	.	.	T	0.04907	0.0132	L	0.28458	0.855	0.09310	N	1	B	0.19200	0.034	B	0.27608	0.081	T	0.44574	-0.9319	9	0.33141	T	0.24	.	4.1954	0.10441	0.419:0.0:0.0:0.581	.	152	Q96IR2	ZN845_HUMAN	R	152	ENSP00000388311:H152R	ENSP00000412086:H152R	H	+	2	0	ZNF845	58546195	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.205000	0.17356	-0.051000	0.13334	0.338000	0.21704	CAC	ZNF845	-	NULL	ENSG00000213799		0.418	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	-	0	61	0	A	XM_039908		53854383	1	tier1	-	no_errors	ENST00000458035	ensembl	human	known	74_37	missense	25.76	49	17	SNP	0.000	G	G	53854383	A	G	53854383	3	3	52	1	0	0	0	0	1	0	0	0	18239	159	6	4	465	4	ZNF845	19	53854383	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	2579768	53854383	5274600	804	13144											
NLRP12	91662	genome.wustl.edu	37	chr19	54313232	54313232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagtccaaacaggaagcGgctggtgagtgccaggaagc	12	4	16	9	1	0	1	0	1	0	0	1	4	1	4	2	5	4	1	2	5	3	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:54313232G>A	ENST00000324134.6	-	3	1849	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	NLRP12_ENST00000391775.3_Missense_Mutation_p.R561C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R561C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R561C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R561C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R561C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R561C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R561C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	561					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACAGGAAGCGGCTGGTGAGT	0.612																																																	0													86	81	83					19																	54313232		2203	4300	6503	SO:0001583	missense	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1681C>T	19.37:g.54313232G>A	ENSP00000319377:p.Arg561Cys		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R561C	ENST00000324134.6	37	c.1681	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	9.456	1.091841	0.20471	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	4.05	4.05	0.47172	.	0.421101	0.17587	N	0.168891	D	0.91908	0.7438	M	0.66506	2.035	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	P;P;P;D	0.63488	0.826;0.826;0.826;0.915	D	0.89619	0.3847	10	0.26408	T	0.33	.	12.1618	0.54107	0.0:0.0:1.0:0.0	.	561;561;561;561	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	C	561	ENSP00000319377:R561C;ENSP00000438030:R561C;ENSP00000340473:R561C;ENSP00000346231:R561C;ENSP00000375655:R561C;ENSP00000375653:R561C;ENSP00000375652:R561C	ENSP00000319377:R561C	R	-	1	0	NLRP12	59005044	0.103000	0.21917	0.438000	0.26821	0.158000	0.22134	2.535000	0.45685	1.991000	0.58162	0.485000	0.47835	CGC	NLRP12	-	NULL	ENSG00000142405		0.612	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0	20	0	G	NM_144687		54313232	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	50.00	12	12	SNP	1.000	A	A	54313232	G	A	54313232	3	1	52	1	0	0	0	0	1	0	0	0	10513	1116	39	1	1632	1	NLRP12	19	54313232	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	458849	54313232	4815751	805	13145											
CNOT3	4849	genome.wustl.edu	37	chr19	54656009	54656009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccatggcggaacgggcagCcatcagctctggcattgagg	8	7	15	11	2	2	1	1	1	1	0	3	2	3	2	2	5	3	3	2	5	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:54656009C>T	ENST00000406403.1	+	13	3255	c.1652C>T	c.(1651-1653)gCc>gTc	p.A551V	CNOT3_ENST00000358389.3_Missense_Mutation_p.A370V|CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.A551V			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	551	Pro-rich.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAACGGGCAGCCATCAGCTCT	0.647																																																	0													61	58	59					19																	54656009		2203	4300	6503	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.1652C>T	19.37:g.54656009C>T	ENSP00000383954:p.Ala551Val		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.A551V	ENST00000406403.1	37	c.1652	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	19.26	3.792834	0.70452	.	.	ENSG00000088038	ENST00000221232;ENST00000358389;ENST00000406403	T;T	0.48201	0.82;0.82	4.59	4.59	0.56863	.	0.060646	0.64402	D	0.000004	T	0.59676	0.2211	L	0.46157	1.445	0.54753	D	0.999981	D;B;D;D	0.76494	0.993;0.003;0.993;0.999	D;B;D;D	0.78314	0.978;0.007;0.978;0.991	T	0.53027	-0.8496	10	0.16420	T	0.52	-28.0233	16.5577	0.84490	0.0:1.0:0.0:0.0	.	551;370;551;475	B7Z6J7;O75175-3;O75175;Q6ZMJ6	.;.;CNOT3_HUMAN;.	V	551;370;551	ENSP00000221232:A551V;ENSP00000383954:A551V	ENSP00000221232:A551V	A	+	2	0	CNOT3	59347821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.003000	0.76310	2.258000	0.74832	0.655000	0.94253	GCC	CNOT3	-	pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.647	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	-	0	43	0	C	NM_014516		54656009	1	tier1	-	no_errors	ENST00000221232	ensembl	human	known	74_37	missense	68.00	16	34	SNP	1.000	T	T	54656009	C	T	54656009	3	4	52	1	0	0	0	0	1	0	0	0	3627	739	26	3	1702	3	CNOT3	19	54656009	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	342777	54656009	4472974	806	13146											
KIR2DL3	3804	genome.wustl.edu	37	chr19	55263121	55263121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaccccagacacctgcatGttctgattgggacctcagtg	9	10	10	12	0	2	2	1	1	1	1	2	3	2	3	4	1	2	3	4	1	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:55263121G>A	ENST00000342376.3	+	6	767	c.736G>A	c.(736-738)Gtt>Att	p.V246I	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	246					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACACCTGCATGTTCTGATTGG	0.443																																																	0													172	148	157					19																	55263121		1421	2577	3998	SO:0001583	missense	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.736G>A	19.37:g.55263121G>A	ENSP00000342215:p.Val246Ile		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.V246I	ENST00000342376.3	37	c.736	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	g	0.025	-1.379275	0.01204	.	.	ENSG00000243772	ENST00000342376	T	0.00472	7.19	0.635	-1.27	0.09347	.	.	.	.	.	T	0.00552	0.0018	L	0.28694	0.88	0.09310	N	1	B;P;B;B	0.41597	0.0;0.756;0.002;0.002	B;P;B;B	0.61722	0.002;0.893;0.004;0.004	T	0.50092	-0.8868	8	0.41790	T	0.15	.	.	.	.	.	246;148;246;246	E3NZD7;P43628-2;P43628;E3NZD8	.;.;KI2L3_HUMAN;.	I	246	ENSP00000342215:V246I	ENSP00000342215:V246I	V	+	1	0	KIR2DL3	59954933	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	-0.317000	0.08060	-0.898000	0.03906	-0.706000	0.03657	GTT	KIR2DL3	-	NULL	ENSG00000243772		0.443	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1		0	182	0	G			55263121	1			no_errors	ENST00000342376	ensembl	human	known	74_37	missense	14.29	137	23	SNP	0.005	A	A	55263121	G	A	55263121	3	1	52	1	0	0	0	0	1	0	0	0	8344	1377	48	3	758	3	KIR2DL3	19	55263121	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	607112	55263121	3865862	807	13147											
KIR2DL3	3804	genome.wustl.edu	37	chr19	55263158	55263160	+	In_Frame_Del	DEL	TCC	TCC	-																															agtggtcatcatcctcttcaTcctcctcctcttctttctcc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:55263158_55263160delTCC	ENST00000342376.3	+	6	804_806	c.773_775delTCC	c.(772-777)atcctc>atc	p.L261del	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	261					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		atcctcttcatcctcctcctctt	0.498																																																	0										14,3944		6,2,1971						-1.3	0			142	21,7701		2,17,3842	no	coding	KIR2DL3	NM_015868.2		8,19,5813	A1A1,A1R,RR		0.272,0.3537,0.2997				35,11645				SO:0001651	inframe_deletion	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.773_775delTCC	19.37:g.55263164_55263166delTCC	ENSP00000342215:p.Leu261del		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	In_Frame_Del	DEL	pfam_Immunoglobulin,smart_Ig_sub	p.L261in_frame_del	ENST00000342376.3	37	c.773_775	CCDS33107.1	19																																																																																			KIR2DL3	-	NULL	ENSG00000243772		0.498	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1		0	193	0	TCC			55263160	1			no_errors	ENST00000342376	ensembl	human	known	74_37	in_frame_del	7.27	153	12	DEL	0.000:0.001:0.002	0	-	55263160	TCC	-	55263158	7	5	52	1	0	1	0	1	0	0	0	0	8344	1435	50	0	795	0	KIR2DL3	19	55263158	In_Frame_Del	DEL	TCC	TCGA-L5-A43J-01A-12D-A247-09	37	55263158	3865825	808	13148											
KIR3DL2	3812	genome.wustl.edu	37	chr19	55361941	55361941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcaccatgtcgctcaCggtcgtcagcatggcgtgcg	6	7	14	14	6	2	0	2	0	0	0	4	0	2	0	1	3	3	4	1	3	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr19:55361941C>T	ENST00000326321.3	+	1	44	c.11C>T	c.(10-12)aCg>aTg	p.T4M	KIR3DL1_ENST00000402254.2_Intron|KIR2DS4_ENST00000339924.8_RNA|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.T4M	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	4					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ATGTCGCTCACGGTCGTCAGC	0.602																																																	0													42	57	53					19																	55361941		729	1866	2595	SO:0001583	missense	0			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.11C>T	19.37:g.55361941C>T	ENSP00000325525:p.Thr4Met		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.T4M	ENST00000326321.3	37	c.11	CCDS12906.1	19	.	.	.	.	.	.	.	.	.	.	N	0	-2.611732	0.00120	.	.	ENSG00000240403	ENST00000326321;ENST00000270442	T;T	0.00481	7.11;7.13	0.868	-0.429	0.12303	.	.	.	.	.	T	0.00144	0.0004	N	0.01464	-0.85	0.09310	N	1	B;B	0.12013	0.002;0.005	B;B	0.08055	0.003;0.002	T	0.33599	-0.9862	9	0.02654	T	1	.	4.5217	0.11962	0.0:0.5104:0.0:0.4896	.	4;4	Q95366;P43630	.;KI3L2_HUMAN	M	4	ENSP00000325525:T4M;ENSP00000270442:T4M	ENSP00000270442:T4M	T	+	2	0	KIR3DL2	60053753	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-3.827000	0.00356	-1.050000	0.03230	-1.461000	0.01025	ACG	KIR3DL2	-	NULL	ENSG00000240403		0.602	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	HGNC	protein_coding	OTTHUMT00000141241.1	-	0	38	0	C			55361941	1	tier1	-	no_errors	ENST00000326321	ensembl	human	known	74_37	missense	75.28	22	67	SNP	0.001	T	T	55361941	C	T	55361941	3	4	52	1	0	0	0	0	1	0	0	0	8348	536	19	1	13	1	KIR3DL2	19	55361941	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	98783	55361941	3767042	809	13149											
CSNK2A1	1457	genome.wustl.edu	37	chr20	485835	485835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacttcactgtatttacctCggcctaattttcgaaccagc	10	14	5	12	2	1	0	1	0	0	0	3	1	1	0	3	1	4	1	3	1	5	8			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:485835C>T	ENST00000217244.3	-	4	515	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R47Q|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R47Q	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GTATTTACCTCGGCCTAATTT	0.338																																																	0													86	73	77					20																	485835		2203	4299	6502	SO:0001583	missense	0			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.140G>A	20.37:g.485835C>T	ENSP00000217244:p.Arg47Gln		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R47Q	ENST00000217244.3	37	c.140	CCDS13003.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.518586	0.96416	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.65178	-0.14;-0.14;-0.14	4.56	4.56	0.56223	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	N	0.17312	0.475	0.80722	D	1	D	0.69078	0.997	P	0.56788	0.806	T	0.68089	-0.5501	10	0.66056	D	0.02	-6.3143	16.8636	0.86024	0.0:1.0:0.0:0.0	.	47	P68400	CSK21_HUMAN	Q	47	ENSP00000383086:R47Q;ENSP00000339247:R47Q;ENSP00000217244:R47Q	ENSP00000217244:R47Q	R	-	2	0	CSNK2A1	433835	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.609000	0.82925	2.535000	0.85469	0.555000	0.69702	CGA	CSNK2A1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101266		0.338	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSNK2A1	HGNC	protein_coding	OTTHUMT00000077466.1	-	0	70	0	C	NM_001895		485835	-1	tier1	-	no_errors	ENST00000217244	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	T	T	485835	C	T	485835	3	4	52	1	0	0	0	0	1	0	0	0	3966	884	31	1	1079	1	CSNK2A1	20	485835	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		485835	62539685	810	13150											
SDCBP2	27111	genome.wustl.edu	37	chr20	1293248	1293248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctgtcccgaaccaccacGacaatcttatcgcctgatgc	10	8	6	17	3	1	1	0	1	1	0	3	3	2	1	5	0	2	0	5	0	3	1	rs151023134		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:1293248G>A	ENST00000360779.3	-	6	716	c.543C>T	c.(541-543)gtC>gtT	p.V181V	SDCBP2_ENST00000467129.1_5'Flank|SDCBP2_ENST00000381812.1_Silent_p.V181V|SDCBP2_ENST00000381808.3_Silent_p.V96V|SDCBP2_ENST00000339987.3_Silent_p.V181V	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	181	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						GAACCACCACGACAATCTTAT	0.627																																																	0								G	,,	1,4405	2.1+/-5.4	0,1,2202	104	88	94		543,288,543	3.6	1	20	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SDCBP2	NM_001199784.1,NM_015685.5,NM_080489.4	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	181/293,96/208,181/293	1293248	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.543C>T	20.37:g.1293248G>A			O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V181	ENST00000360779.3	37	c.543	CCDS42848.1	20																																																																																			SDCBP2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000125775		0.627	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	HGNC	protein_coding	OTTHUMT00000077513.2	-	0	46	0	G	NM_080489		1293248	-1	tier1	rs151023134	no_errors	ENST00000339987	ensembl	human	known	74_37	silent	54.74	62	75	SNP	1.000	A	A	1293248	G	A	1293248	2	1	52	1	0	0	0	0	0	0	0	1	14001	1045	37	1		1	SDCBP2	20	1293248	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	807413	1293248	61732272	811	13151											
MAVS	57506	genome.wustl.edu	37	chr20	3845276	3845276	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactagctcaaagcccccTggtgcagtgccttctaatgc	9	9	8	15	0	2	0	1	0	1	0	2	0	2	0	4	1	6	2	4	1	4	3	rs374618610		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:3845276T>C	ENST00000428216.2	+	6	1127	c.999T>C	c.(997-999)ccT>ccC	p.P333P	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.P192P	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	333					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CAAAGCCCCCTGGTGCAGTGC	0.557																																																	0								T	,	1,4405	2.1+/-5.4	0,1,2202	129	115	119		576,999	-0.8	0.1	20		119	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MAVS	NM_001206491.1,NM_020746.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	192/400,333/541	3845276	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"virus-induced signaling adaptor", "IFN-B promoter stimulator 1", "CARD adaptor inducing IFN-beta"	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.999T>C	20.37:g.3845276T>C			A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Silent	SNP	NULL	p.P333	ENST00000428216.2	37	c.999	CCDS33437.1	20																																																																																			MAVS	-	NULL	ENSG00000088888		0.557	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAVS	HGNC	protein_coding	OTTHUMT00000077784.3	-	0	29	0	T	NM_020746		3845276	1	tier1	-	no_errors	ENST00000428216	ensembl	human	known	74_37	silent	32.86	46	23	SNP	0.203	C	C	3845276	T	C	3845276	2	2	52	1	0	0	0	0	0	0	0	1	9376	1567	55	4		4	MAVS	20	3845276	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	2552028	3845276	59180244	812	13152											
PANK2	80025	genome.wustl.edu	37	chr20	3888689	3888689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaagtcttaaaagcattCggaagtacctgacctccaat	14	10	8	9	1	1	1	0	1	1	0	3	3	2	3	3	2	2	2	3	2	6	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:3888689C>T	ENST00000316562.4	+	2	751	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	PANK2_ENST00000610179.1_Missense_Mutation_p.R126W|PANK2_ENST00000497424.1_5'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	249			R -> P (in NBIA1). {ECO:0000269|PubMed:12510040}.		aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAAAGCATTCGGAAGTACCT	0.483																																																	0													114	100	105					20																	3888689		2203	4300	6503	SO:0001583	missense	0			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.745C>T	20.37:g.3888689C>T	ENSP00000313377:p.Arg249Trp		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.R249W	ENST00000316562.4	37	c.745	CCDS13071.2	20	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080870	0.76528	.	.	ENSG00000125779	ENST00000316562;ENST00000399552	D	0.99571	-6.19	5.65	3.56	0.40772	.	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	M	0.87180	2.865	0.54753	D	0.999984	D	0.89917	1.0	D	0.77004	0.989	D	0.98027	1.0374	10	0.72032	D	0.01	.	12.7487	0.57296	0.3078:0.6922:0.0:0.0	.	249	Q9BZ23	PANK2_HUMAN	W	249;65	ENSP00000313377:R249W	ENSP00000313377:R249W	R	+	1	2	PANK2	3836689	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.046000	0.49846	1.584000	0.49913	0.655000	0.94253	CGG	PANK2	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000125779		0.483	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2	-	0	27	0	C	NM_024960		3888689	1	tier1	-	no_errors	ENST00000316562	ensembl	human	known	74_37	missense	30.23	29	13	SNP	1.000	T	T	3888689	C	T	3888689	3	4	52	1	0	0	0	0	1	0	0	0	11456	875	31	1	751	1	PANK2	20	3888689	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	43413	3888689	59136831	813	13153											
PRNP	5621	genome.wustl.edu	37	chr20	4679939	4679939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgggcctctgcaagaagCgcccgaagcctggaggatgg	9	5	15	12	2	1	1	0	0	1	1	1	4	1	3	4	4	3	1	4	4	3	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:4679939C>T	ENST00000379440.4	+	2	360	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	PRNP_ENST00000430350.2_Missense_Mutation_p.R25C	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0	Trp-rich.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CTGCAAGAAGCGCCCGAAGCC	0.627																																																	0													40	50	47					20																	4679939		2201	4300	6501	SO:0001583	missense	0			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.73C>T	20.37:g.4679939C>T	ENSP00000368752:p.Arg25Cys			Missense_Mutation	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.R25C	ENST00000379440.4	37	c.73	CCDS13080.1	20	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029230	0.75504	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000457586	D;D;D;D	0.95853	-2.76;-2.76;-2.99;-3.83	5.02	5.02	0.67125	.	0.329036	0.25037	N	0.033632	D	0.96728	0.8932	L	0.54323	1.7	0.46586	D	0.999118	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.999;0.982;0.761	D	0.96972	0.9709	10	0.87932	D	0	-1.4596	14.1892	0.65628	0.0:1.0:0.0:0.0	.	25;25;25	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	C	25	ENSP00000368752:R25C;ENSP00000399376:R25C;ENSP00000411599:R25C;ENSP00000415284:R25C	ENSP00000368752:R25C	R	+	1	0	PRNP	4627939	0.999000	0.42202	0.997000	0.53966	0.962000	0.63368	2.192000	0.42649	2.496000	0.84212	0.655000	0.94253	CGC	PRNP	-	pfam_Prion_N_dom,smart_Prion	ENSG00000171867		0.627	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	-	0	19	0	C	NM_000311		4679939	1	tier1	-	no_errors	ENST00000379440	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.998	T	T	4679939	C	T	4679939	3	4	52	1	0	0	0	0	1	0	0	0	12586	768	27	1	75	1	PRNP	20	4679939	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	791250	4679939	58345581	814	13154											
GZF1	64412	genome.wustl.edu	37	chr20	23350283	23350283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctcaacgccctccagCgccaccgccgcatccacaca	9	3	6	23	4	1	0	1	0	0	0	3	0	3	0	7	0	3	2	7	0	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:23350283C>T	ENST00000338121.5	+	5	1767	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	GZF1_ENST00000542987.1_Missense_Mutation_p.R73C|GZF1_ENST00000544236.1_Missense_Mutation_p.R88C|GZF1_ENST00000377051.2_Missense_Mutation_p.R564C			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	564					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CGCCCTCCAGCGCCACCGCCG	0.627																																																	0													85	79	81					20																	23350283		2203	4300	6503	SO:0001583	missense	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1690C>T	20.37:g.23350283C>T	ENSP00000338290:p.Arg564Cys		A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R564C	ENST00000338121.5	37	c.1690	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899676	0.91962	.	.	ENSG00000125812	ENST00000544236;ENST00000338121;ENST00000542987;ENST00000377051	T;T;T;T	0.26660	3.16;1.72;3.16;1.72	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.206166	0.32836	N	0.005590	T	0.55194	0.1905	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51466	-0.8702	10	0.48119	T	0.1	.	19.3594	0.94431	0.0:1.0:0.0:0.0	.	564	Q9H116	GZF1_HUMAN	C	88;564;73;564	ENSP00000445458:R88C;ENSP00000338290:R564C;ENSP00000445118:R73C;ENSP00000366250:R564C	ENSP00000338290:R564C	R	+	1	0	GZF1	23298283	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.201000	0.72124	2.822000	0.97130	0.655000	0.94253	CGC	GZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125812		0.627	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0	16	0	C	NM_022482		23350283	1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T	T	23350283	C	T	23350283	3	4	52	1	0	0	0	0	1	0	0	0	6941	768	27	1	1704	1	GZF1	20	23350283	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	18670344	23350283	39675237	815	13155											
CST4	1472	genome.wustl.edu	37	chr20	23667826	23667826	+	Frame_Shift_Del	DEL	C	C	-																															tacgtcgaagaagtaattcaCccccccaaaggtctgcacac																								rs140501583		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:23667826delC	ENST00000217423.3	-	2	311	c.241delG	c.(241-243)gtgfs	p.V81fs		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AAGTAATTCACCCCCCCAAAG	0.552																																																	0													208	191	197					20																	23667826		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.241delG	20.37:g.23667826delC	ENSP00000217423:p.Val81fs		Q9UBI5|Q9UCS9	Frame_Shift_Del	DEL	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.V81fs	ENST00000217423.3	37	c.241	CCDS13159.1	20																																																																																			CST4	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000101441		0.552	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST4	HGNC	protein_coding	OTTHUMT00000078349.2		0	65	0	C	NM_001899		23667826	-1	tier1		no_errors	ENST00000217423	ensembl	human	known	74_37	frame_shift_del	17.81	180	39	DEL	0.000	-	-	23667826	C	-	23667826	7	5	52	1	0	1	0	1	0	0	0	0	3983	507	18	0	192	0	CST4	20	23667826	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	317543	23667826	39357694	816	13156											
XKR7	343702	genome.wustl.edu	37	chr20	30584487	30584487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgcgctcttcgccagcGtctacaagctctattttggc	5	13	8	15	4	3	0	0	0	3	0	5	0	3	0	2	1	3	2	2	1	3	6			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:30584487G>A	ENST00000562532.2	+	3	1141	c.967G>A	c.(967-969)Gtc>Atc	p.V323I		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	323						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTCGCCAGCGTCTACAAGCT	0.617																																																	0													81	76	78					20																	30584487		2203	4300	6503	SO:0001583	missense	0			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.967G>A	20.37:g.30584487G>A	ENSP00000477059:p.Val323Ile		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.V323I	ENST00000562532.2	37	c.967	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	g	18.70	3.679623	0.68042	.	.	ENSG00000101321	ENST00000217299	T	0.67345	-0.26	5.19	5.19	0.71726	.	0.122204	0.53938	D	0.000041	T	0.73110	0.3545	L	0.56769	1.78	0.80722	D	1	D	0.63046	0.992	P	0.55112	0.769	T	0.68727	-0.5332	10	0.18276	T	0.48	.	17.7051	0.88306	0.0:0.0:1.0:0.0	.	323	Q5GH72	XKR7_HUMAN	I	323	ENSP00000217299:V323I	ENSP00000217299:V323I	V	+	1	0	XKR7	30048148	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.872000	0.69636	2.427000	0.82271	0.556000	0.70494	GTC	XKR7	-	pfam_Transport_prot_XK	ENSG00000260903		0.617	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	-	0	45	0	G	NM_001011718		30584487	1	tier1	-	no_errors	ENST00000562532	ensembl	human	known	74_37	missense	59.74	31	46	SNP	1.000	A	A	30584487	G	A	30584487	3	1	52	1	0	0	0	0	1	0	0	0	17485	1145	40	1	977	1	XKR7	20	30584487	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	6916661	30584487	32441033	817	13157											
ASXL1	171023	genome.wustl.edu	37	chr20	30954215	30954215	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactactcggatgctccaaTgacaccaaaacagattctgc	15	8	6	12	1	1	2	0	1	1	1	3	3	2	3	2	1	5	1	2	1	5	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:30954215T>C	ENST00000375687.4	+	2	510	c.86T>C	c.(85-87)aTg>aCg	p.M29T	ASXL1_ENST00000375689.1_Missense_Mutation_p.M25T|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.M29T|ASXL1_ENST00000306058.5_Missense_Mutation_p.M25T	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	29					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GATGCTCCAATGACACCAAAA	0.378			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													223	202	209					20																	30954215		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.86T>C	20.37:g.30954215T>C	ENSP00000364839:p.Met29Thr		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.M29T	ENST00000375687.4	37	c.86	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539901	0.65085	.	.	ENSG00000171456	ENST00000358956;ENST00000542189;ENST00000375687;ENST00000542461;ENST00000421155;ENST00000412498;ENST00000375689;ENST00000306058	T;T	0.42900	1.55;0.96	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.61035	0.2315	M	0.69823	2.125	0.58432	D	0.999995	D	0.61697	0.99	D	0.68353	0.957	T	0.65249	-0.6214	10	0.87932	D	0	-14.8125	12.2823	0.54771	0.0:0.0:0.0:1.0	.	29	Q8IXJ9	ASXL1_HUMAN	T	29;29;29;29;29;19;25;25	ENSP00000364839:M29T;ENSP00000305119:M25T	ENSP00000305119:M25T	M	+	2	0	ASXL1	30417876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.484000	0.73621	2.164000	0.68074	0.523000	0.50628	ATG	ASXL1	-	NULL	ENSG00000171456		0.378	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	59	0	T	NM_015338		30954215	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	45.08	67	55	SNP	1.000	C	C	30954215	T	C	30954215	3	2	52	1	0	0	0	0	1	0	0	0	1067	1464	51	4	92	4	ASXL1	20	30954215	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	369728	30954215	32071305	818	13158											
C20orf114	92747	genome.wustl.edu	37	chr20	31876669	31876669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcctggtgaacaccGtcctgaagcacatcatctgg	9	8	12	12	1	2	2	1	2	1	0	3	2	3	2	3	3	3	2	3	3	2	0	rs374640604		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:31876669G>A	ENST00000253354.1	+	3	399	c.238G>A	c.(238-240)Gtc>Atc	p.V80I		NM_033197.2	NP_149974.2	Q8TDL5	BPIB1_HUMAN	BPI fold containing family B, member 1	80					innate immune response in mucosa (GO:0002227)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.V80I(1)									GGTGAACACCGTCCTGAAGCA	0.627													G|||	1	0.000199681	0	0.0014	5008	,	,		19301	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						G	ILE/VAL	0,4406		0,0,2203	67	50	56		238	-7.5	0	20		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	BPIFB1	NM_033197.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	80/485	31876669	1,13005	2203	4300	6503	SO:0001583	missense	0			BC008429	CCDS13218.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000125999	ENSG00000125999		"BPI fold containing"	16108	protein-coding gene	gene with protein product	"von Ebner minor salivary gland protein"		"chromosome 20 open reading frame 114"	C20orf114		11971875, 21787333	Standard	NM_033197		Approved	dJ1187J4.1, MGC14597, bA49G10.6, LPLUNC1, VEMSGP	uc002wyw.1	Q8TDL5	OTTHUMG00000032252	ENST00000253354.1:c.238G>A	20.37:g.31876669G>A	ENSP00000253354:p.Val80Ile		A8K2H8|Q5QP43|Q6UWY1|Q6ZRU7|Q96HK6|Q9BQP8|Q9BWZ6|Q9H4V6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	p.V80I	ENST00000253354.1	37	c.238	CCDS13218.1	20	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.941976	0.02322	0.0	1.16E-4	ENSG00000125999	ENST00000423645;ENST00000253354	T;T	0.06933	3.24;3.24	5.34	-7.51	0.01346	.	0.808315	0.11241	N	0.584655	T	0.01222	0.0040	N	0.00621	-1.32	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.35943	-0.9768	10	0.02654	T	1	-14.9604	1.6018	0.02675	0.4447:0.1029:0.2463:0.2061	.	80;80	B2R7Z6;Q8TDL5	.;BPIB1_HUMAN	I	80	ENSP00000390471:V80I;ENSP00000253354:V80I	ENSP00000253354:V80I	V	+	1	0	BPIFB1	31340330	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.627000	0.00410	-1.112000	0.02984	-1.731000	0.00696	GTC	BPIFB1	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_PLUNC_long_form	ENSG00000125999		0.627	BPIFB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB1	HGNC	protein_coding	OTTHUMT00000106499.2	-	0	35	0	G	NM_033197		31876669	1	tier1	-	no_errors	ENST00000253354	ensembl	human	known	74_37	missense	45.16	33	28	SNP	0.000	A	A	31876669	G	A	31876669	3	1	52	1	0	0	0	0	1	0	0	0	2089	1145	40	1	244	1	C20orf114	20	31876669	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	922454	31876669	31148851	819	13159											
RALY	22913	genome.wustl.edu	37	chr20	32660107	32660107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagctgtgctgggagagaAtgggcgggtgctggccgggc	5	6	22	8	2	0	1	0	0	0	1	0	3	0	2	1	6	3	4	1	6	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:32660107A>G	ENST00000246194.3	+	3	729	c.227A>G	c.(226-228)aAt>aGt	p.N76S	RALY_ENST00000493399.1_Intron|RALY_ENST00000375114.3_Missense_Mutation_p.N76S	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	76	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGGGAGAGAATGGGCGGGTG	0.547																																																	0													48	51	50					20																	32660107		2203	4300	6503	SO:0001583	missense	0			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.227A>G	20.37:g.32660107A>G	ENSP00000246194:p.Asn76Ser		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.N76S	ENST00000246194.3	37	c.227	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872356	0.91587	.	.	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000413297;ENST00000442805	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.45	5.45	0.79879	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	L	0.58669	1.825	0.53005	D	0.999967	D;D	0.76494	0.999;0.999	D;D	0.91635	0.998;0.999	T	0.67925	-0.5544	10	0.66056	D	0.02	-27.7786	15.6711	0.77274	1.0:0.0:0.0:0.0	.	76;76	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	S	76	ENSP00000364255:N76S;ENSP00000413638:N76S;ENSP00000246194:N76S;ENSP00000403744:N76S;ENSP00000415973:N76S	ENSP00000246194:N76S	N	+	2	0	RALY	32123768	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.037000	0.93765	2.285000	0.76669	0.477000	0.44152	AAT	RALY	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	ENSG00000125970		0.547	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	-	0	16	0	A			32660107	1	tier1	-	no_errors	ENST00000246194	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	G	G	32660107	A	G	32660107	3	3	52	1	0	0	0	0	1	0	0	0	13064	101	4	4	229	4	RALY	20	32660107	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	783438	32660107	30365413	820	13160											
NCOA6	23054	genome.wustl.edu	37	chr20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-																															aagatgacacatttccacccGggggtatcataacagtggca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33346694delG	ENST00000374796.2	-	7	3127	c.557delC	c.(556-558)ccgfs	p.P186fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.P186fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATTTCCACCCGGGGGTATCAT	0.453																																																	0													89	90	89					20																	33346694		2203	4300	6503	SO:0001589	frameshift_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.557delC	20.37:g.33346694delG	ENSP00000363929:p.Pro186fs		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	NULL	p.P186fs	ENST00000374796.2	37	c.557	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2		0	20	0	G	NM_014071		33346694	-1	tier1		no_errors	ENST00000359003	ensembl	human	known	74_37	frame_shift_del	25.58	32	11	DEL	0.996	-	-	33346694	G	-	33346694	7	5	52	1	0	1	0	1	0	0	0	0	10272	1116	39	0	5674	0	NCOA6	20	33346694	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	686587	33346694	29678826	821	13161											
GGT7	2686	genome.wustl.edu	37	chr20	33451230	33451230	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggcaggagcactcggcCgctgcggcggagaacgggtc	6	4	19	12	6	0	1	0	0	0	1	2	3	0	2	1	7	3	3	1	7	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33451230C>T	ENST00000336431.5	-	2	335	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	97					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGCACTCGGCCGCTGCGGCGG	0.672																																																	0													36	30	32					20																	33451230		2202	4299	6501	SO:0001819	synonymous_variant	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.291G>A	20.37:g.33451230C>T			Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.A97	ENST00000336431.5	37	c.291	CCDS13242.2	20																																																																																			GGT7	-	NULL	ENSG00000131067		0.672	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0	30	0	C	NM_178026		33451230	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	silent	55.84	33	43	SNP	0.000	T	T	33451230	C	T	33451230	2	4	52	1	0	0	0	0	0	0	0	1	6390	639	23	1		1	GGT7	20	33451230	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	104536	33451230	29574290	822	13162											
MYH7B	57644	genome.wustl.edu	37	chr20	33565839	33565839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgaacttggggagtctGcccgctacctccgccagggc	6	8	14	13	2	1	2	0	2	1	0	2	3	2	3	4	3	3	1	4	3	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33565839G>A	ENST00000262873.7	+	3	249	c.157G>A	c.(157-159)Gcc>Acc	p.A53T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	11						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGGGAGTCTGCCCGCTACCT	0.607																																																	0													83	90	87					20																	33565839		2186	4280	6466	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.157G>A	20.37:g.33565839G>A	ENSP00000262873:p.Ala53Thr		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A53T	ENST00000262873.7	37	c.157	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687970	0.88639	.	.	ENSG00000078814	ENST00000262873	D	0.86562	-2.14	4.98	4.98	0.66077	.	0.000000	0.34386	N	0.004001	T	0.80132	0.4567	N	0.08118	0	0.47862	D	0.999535	P	0.44690	0.841	P	0.45099	0.469	T	0.82446	-0.0453	10	0.41790	T	0.15	.	18.4469	0.90688	0.0:0.0:1.0:0.0	.	11	A7E2Y1	MYH7B_HUMAN	T	53	ENSP00000262873:A53T	ENSP00000262873:A53T	A	+	1	0	MYH7B	33029500	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.511000	0.73733	2.595000	0.87683	0.655000	0.94253	GCC	MYH7B	-	NULL	ENSG00000078814		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	39	0	G	NM_020884		33565839	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	27.37	69	26	SNP	1.000	A	A	33565839	G	A	33565839	3	1	52	1	0	0	0	0	1	0	0	0	10078	1319	46	3	167	3	MYH7B	20	33565839	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	114609	33565839	29459681	823	13163											
MYH7B	57644	genome.wustl.edu	37	chr20	33577720	33577720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtccactacgcaggcGtggtaggtgcttgctggaac	7	9	16	9	2	0	0	0	0	0	0	1	1	1	1	1	6	4	4	1	6	3	3	rs571377722		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:33577720G>A	ENST00000262873.7	+	18	1983	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	589	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTACGCAGGCGTGGTAGGTGC	0.647																																																	0													40	44	43					20																	33577720		2098	4232	6330	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.1891G>A	20.37:g.33577720G>A	ENSP00000262873:p.Val631Met		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V631M	ENST00000262873.7	37	c.1891	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140622	0.56936	.	.	ENSG00000078814	ENST00000262873	D	0.87256	-2.23	4.17	4.17	0.49024	Myosin head, motor domain (2);	0.000000	0.34338	N	0.004043	D	0.92331	0.7567	M	0.72118	2.19	0.41505	D	0.988305	D	0.76494	0.999	D	0.67103	0.949	D	0.93354	0.6721	10	0.62326	D	0.03	.	17.0319	0.86463	0.0:0.0:1.0:0.0	.	589	A7E2Y1	MYH7B_HUMAN	M	631	ENSP00000262873:V631M	ENSP00000262873:V631M	V	+	1	0	MYH7B	33041381	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	4.573000	0.60893	2.319000	0.78375	0.561000	0.74099	GTG	MYH7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000078814		0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	40	0	G	NM_020884		33577720	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	16.22	62	12	SNP	1.000	A	A	33577720	G	A	33577720	3	1	52	1	0	0	0	0	1	0	0	0	10078	1145	40	1	1961	1	MYH7B	20	33577720	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	11881	33577720	29447800	824	13164											
C20orf152	140894	genome.wustl.edu	37	chr20	34568534	34568534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctggccaaagtcatgCgctttgaacggtcagtgagg	8	10	13	10	2	2	2	2	2	0	0	3	2	3	2	2	3	3	2	2	3	2	1	rs146293825	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:34568534C>T	ENST00000373973.3	+	4	570	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	CNBD2_ENST00000538900.1_Missense_Mutation_p.R133C|CNBD2_ENST00000349339.1_Missense_Mutation_p.R133C			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	133																	CAAAGTCATGCGCTTTGAACG	0.587													C|||	4	0.000798722	0.003	0	5008	,	,		20744	0		0	False		,,,				2504	0																0								C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	63	54	57		397,397	5.3	1	20	dbSNP_134	57	0,8600		0,0,4300	yes	missense,missense	C20orf152	NM_001207076.1,NM_080834.2	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	133/424,133/573	34568534	2,13004	2203	4300	6503	SO:0001583	missense	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.397C>T	20.37:g.34568534C>T	ENSP00000363084:p.Arg133Cys		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R133C	ENST00000373973.3	37	c.397		20	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925216	0.52759	4.54E-4	0.0	ENSG00000149646	ENST00000373973;ENST00000349339;ENST00000538900	D;D;D	0.84944	-1.92;-1.92;-1.92	5.35	5.35	0.76521	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.163363	0.44097	D	0.000496	D	0.85146	0.5630	M	0.66939	2.045	0.51233	D	0.999912	D;D	0.58970	0.979;0.984	B;P	0.47941	0.288;0.562	D	0.85435	0.1151	10	0.49607	T	0.09	-17.2267	10.0763	0.42362	0.0:0.9094:0.0:0.0906	.	133;133	Q96M20;Q96M20-2	CT152_HUMAN;.	C	133	ENSP00000363084:R133C;ENSP00000340954:R133C;ENSP00000442729:R133C	ENSP00000340954:R133C	R	+	1	0	C20orf152	34031948	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	2.291000	0.43540	2.503000	0.84419	0.655000	0.94253	CGC	CNBD2	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000149646		0.587	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2	-	0	20	0	C	NM_080834		34568534	1	tier1	rs146293825	no_errors	ENST00000373973	ensembl	human	known	74_37	missense	45.65	25	21	SNP	1.000	T	T	34568534	C	T	34568534	3	4	52	1	0	0	0	0	1	0	0	0	2099	768	27	1	411	1	C20orf152	20	34568534	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	990814	34568534	28456986	825	13165											
RBPJL	11317	genome.wustl.edu	37	chr20	43945485	43945485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctacaccccggaatacagCgtgcggccgggtcaccccgg	8	4	12	17	5	1	0	1	0	0	0	1	1	1	1	6	4	4	0	6	4	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:43945485C>A	ENST00000343694.3	+	12	1512	c.1440C>A	c.(1438-1440)agC>agA	p.S480R	RBPJL_ENST00000372743.1_Missense_Mutation_p.S479R|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	480	IPT/TIG.				positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CGGAATACAGCGTGCGGCCGG	0.672																																																	0													42	51	48					20																	43945485		2203	4300	6503	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1440C>A	20.37:g.43945485C>A	ENSP00000341243:p.Ser480Arg		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.S480R	ENST00000343694.3	37	c.1440	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212741	0.58452	.	.	ENSG00000124232	ENST00000372743;ENST00000343694	T;T	0.38560	1.13;1.13	5.06	2.75	0.32379	.	0.302114	0.32328	N	0.006247	T	0.47544	0.1451	L	0.51422	1.61	0.37034	D	0.896815	D	0.63880	0.993	P	0.55345	0.774	T	0.56805	-0.7918	10	0.66056	D	0.02	-16.915	9.8399	0.40993	0.0:0.8073:0.0:0.1927	.	480	Q9UBG7	RBPJL_HUMAN	R	479;480	ENSP00000361828:S479R;ENSP00000341243:S480R	ENSP00000341243:S480R	S	+	3	2	RBPJL	43378899	0.378000	0.25114	0.588000	0.28705	0.444000	0.32077	0.638000	0.24674	1.136000	0.42199	0.449000	0.29647	AGC	RBPJL	-	NULL	ENSG00000124232		0.672	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	-	0	53	0	C	NM_014276		43945485	1	tier1	-	no_errors	ENST00000343694	ensembl	human	known	74_37	missense	44.53	76	61	SNP	0.665	A	A	43945485	C	A	43945485	3	1	52	1	0	0	0	0	1	0	0	0	13207	767	27	2	1486	2	RBPJL	20	43945485	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	9376951	43945485	19080035	826	13166											
MMP9	4318	genome.wustl.edu	37	chr20	44639804	44639804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccaactcggtttggaaaCgcagatggcgcggcctgcca	8	8	13	12	4	0	1	0	0	0	1	2	2	1	2	3	4	3	3	3	4	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:44639804C>T	ENST00000372330.3	+	5	691	c.672C>T	c.(670-672)aaC>aaT	p.N224N	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	224					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GGTTTGGAAACGCAGATGGCG	0.642																																																	0													101	115	110					20																	44639804		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.672C>T	20.37:g.44639804C>T			B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.N224	ENST00000372330.3	37	c.672	CCDS13390.1	20																																																																																			MMP9	-	pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd	ENSG00000100985		0.642	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	-	0	38	0	C			44639804	1	tier1	-	no_errors	ENST00000372330	ensembl	human	known	74_37	silent	37.78	56	34	SNP	1.000	T	T	44639804	C	T	44639804	2	4	52	1	0	0	0	0	0	0	0	1	9707	535	19	1		1	MMP9	20	44639804	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	694319	44639804	18385716	827	13167											
ELMO2	63916	genome.wustl.edu	37	chr20	45000560	45000560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactgatccaaagagttggGtttggagggcaaagctcgag	12	8	15	6	1	0	2	0	1	0	1	2	5	1	3	1	3	2	4	1	3	3	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:45000560G>T	ENST00000290246.6	-	17	1659	c.1465C>A	c.(1465-1467)Ccc>Acc	p.P489T	ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000445496.2_Missense_Mutation_p.P306T|ELMO2_ENST00000396391.1_Missense_Mutation_p.P489T|ELMO2_ENST00000454865.2_Missense_Mutation_p.P221T|ELMO2_ENST00000372176.1_Missense_Mutation_p.P401T|ELMO2_ENST00000439931.2_Missense_Mutation_p.P501T|ELMO2_ENST00000352077.2_Missense_Mutation_p.P487T	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	489					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AAAGAGTTGGGTTTGGAGGGC	0.488																																																	0													84	83	83					20																	45000560		2203	4300	6503	SO:0001583	missense	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1465C>A	20.37:g.45000560G>T	ENSP00000290246:p.Pro489Thr		E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.P501T	ENST00000290246.6	37	c.1501	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550017	0.86127	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000452857;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077	T;T;T;T;T;T;T;T	0.47528	2.37;2.11;0.84;2.37;2.35;1.78;1.82;2.36	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	M	0.82823	2.61	0.80722	D	1	P;D;P;D	0.89917	0.943;1.0;0.938;0.999	P;D;P;D	0.79108	0.74;0.992;0.596;0.973	T	0.76780	-0.2833	10	0.87932	D	0	-22.027	16.9137	0.86146	0.0:0.0:1.0:0.0	.	501;221;306;489	B4DRL5;B4DZ20;B7Z1S8;Q96JJ3	.;.;.;ELMO2_HUMAN	T	489;401;56;489;501;306;221;487	ENSP00000290246:P489T;ENSP00000361249:P401T;ENSP00000414329:P56T;ENSP00000379673:P489T;ENSP00000396519:P501T;ENSP00000409920:P306T;ENSP00000415641:P221T;ENSP00000326172:P487T	ENSP00000290246:P489T	P	-	1	0	ELMO2	44433967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.523000	0.85059	0.655000	0.94253	CCC	ELMO2	-	NULL	ENSG00000062598		0.488	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	-	0	30	0	G	NM_022086		45000560	-1	tier1	-	no_errors	ENST00000439931	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	T	T	45000560	G	T	45000560	3	4	52	1	0	0	0	0	1	0	0	0	5082	1261	44	3	721	3	ELMO2	20	45000560	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	360756	45000560	18024960	828	13168											
NFATC2	4773	genome.wustl.edu	37	chr20	50140068	50140068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaggccggacggggcaCgggcgagtggcggcccaggc	5	1	23	12	6	0	0	0	0	0	0	0	3	0	2	2	9	0	1	2	9	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:50140068C>T	ENST00000396009.3	-	2	931	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	NFATC2_ENST00000610033.1_Missense_Mutation_p.V19M|NFATC2_ENST00000414705.1_Missense_Mutation_p.V218M|NFATC2_ENST00000371564.3_Missense_Mutation_p.V238M|NFATC2_ENST00000609943.1_Missense_Mutation_p.V218M|NFATC2_ENST00000609507.1_Missense_Mutation_p.V19M	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	238	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V238L(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGACGGGGCACGGGCGAGTGG	0.667																																																	1	Substitution - Missense(1)	lung(1)											37	45	42					20																	50140068		2174	4261	6435	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.712G>A	20.37:g.50140068C>T	ENSP00000379330:p.Val238Met		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.V238M	ENST00000396009.3	37	c.712	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596821	0.66332	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.80393	-1.37;-1.37;-1.37	5.58	4.58	0.56647	.	0.334456	0.32244	N	0.006366	T	0.69797	0.3151	L	0.29908	0.895	0.29337	N	0.86632	P;P;P;P	0.50819	0.939;0.919;0.919;0.834	B;B;B;B	0.41646	0.34;0.34;0.362;0.362	T	0.70733	-0.4791	10	0.54805	T	0.06	-10.5257	11.1298	0.48341	0.407:0.593:0.0:0.0	.	218;218;238;238	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	M	238;238;19;218	ENSP00000360619:V238M;ENSP00000379330:V238M;ENSP00000396471:V218M	ENSP00000360619:V238M	V	-	1	0	NFATC2	49573475	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.977000	0.63792	2.626000	0.88956	0.313000	0.20887	GTG	NFATC2	-	NULL	ENSG00000101096		0.667	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0	28	0	C	NM_012340		50140068	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	50.88	56	58	SNP	1.000	T	T	50140068	C	T	50140068	3	4	52	1	0	0	0	0	1	0	0	0	10401	536	19	1	2149	1	NFATC2	20	50140068	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	5139508	50140068	12885452	829	13169											
SS18L1	26039	genome.wustl.edu	37	chr20	60737811	60737811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccccatgccagggcCgagccacgtgtccatgcagc	6	6	11	18	2	0	0	0	0	0	0	2	1	2	0	7	1	5	2	7	1	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:60737811C>T	ENST00000331758.3	+	5	406	c.380C>T	c.(379-381)cCg>cTg	p.P127L	SS18L1_ENST00000370848.4_Missense_Mutation_p.P130L|SS18L1_ENST00000421564.1_Missense_Mutation_p.P127L|SS18L1_ENST00000491916.1_3'UTR	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	127	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1. {ECO:0000250}.				chromatin modification (GO:0016568)|dendrite development (GO:0016358)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of dendrite development (GO:0050773)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|kinetochore (GO:0000776)|nuclear body (GO:0016604)|nucleus (GO:0005634)			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			ATGCCAGGGCCGAGCCACGTG	0.642			T	SSX1	synovial sarcoma																																			Dom	yes		20	20q13.3	26039	synovial sarcoma translocation gene on chromosome 18-like 1		M	0													29	26	27					20																	60737811		2198	4295	6493	SO:0001583	missense	0			AB014593	CCDS13491.1	20q13.3	2008-07-28			ENSG00000184402	ENSG00000184402			15592	protein-coding gene	gene with protein product		606472					Standard	XM_005260389		Approved	KIAA0693	uc002ycb.3	O75177	OTTHUMG00000032902	ENST00000331758.3:c.380C>T	20.37:g.60737811C>T	ENSP00000333012:p.Pro127Leu		A6NNE3|A8K620|B3KWR8|E1P5H7|Q5JXJ3|Q6MZV9|Q6NTH3|Q6XYD9|Q8NE69|Q9BR55|Q9H4K6	Missense_Mutation	SNP	pfam_SS18_fam	p.P130L	ENST00000331758.3	37	c.389	CCDS13491.1	20	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887820	0.72410	.	.	ENSG00000184402	ENST00000421564;ENST00000331758;ENST00000370848	T;T;T	0.41758	1.36;1.36;0.99	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.70275	2.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.915;0.998	T	0.69599	-0.5102	10	0.87932	D	0	-24.3918	18.7907	0.91973	0.0:1.0:0.0:0.0	.	127;127	B4DSR7;O75177	.;CREST_HUMAN	L	127;127;130	ENSP00000393999:P127L;ENSP00000333012:P127L;ENSP00000359885:P130L	ENSP00000333012:P127L	P	+	2	0	SS18L1	60171206	1.000000	0.71417	0.927000	0.36925	0.168000	0.22595	7.386000	0.79775	2.438000	0.82558	0.563000	0.77884	CCG	SS18L1	-	NULL	ENSG00000184402		0.642	SS18L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SS18L1	HGNC	protein_coding	OTTHUMT00000080004.2	-	0	29	0	C			60737811	1	tier1	-	no_errors	ENST00000370848	ensembl	human	known	74_37	missense	50.00	53	53	SNP	0.998	T	T	60737811	C	T	60737811	3	4	52	1	0	0	0	0	1	0	0	0	15223	652	23	1	398	1	SS18L1	20	60737811	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	10597743	60737811	2287709	830	13170											
TCFL5	10732	genome.wustl.edu	37	chr20	61488860	61488860	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggactccgaggactgccaAgcgccttgtgtggcggtggc	6	7	17	11	3	0	0	0	0	0	0	1	4	1	2	3	5	2	0	3	5	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:61488860A>G	ENST00000335351.3	-	4	1217	c.1125T>C	c.(1123-1125)gcT>gcC	p.A375A	TCFL5_ENST00000217162.5_Silent_p.A327A	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	375					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					AGGACTGCCAAGCGCCTTGTG	0.587																																																	0													126	119	121					20																	61488860		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"Basic helix-loop-helix proteins"	11646	protein-coding gene	gene with protein product	"HPV-16 E2 binding protein 1"	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1125T>C	20.37:g.61488860A>G			O94771|Q9BYW0	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A375	ENST00000335351.3	37	c.1125	CCDS13506.1	20																																																																																			TCFL5	-	NULL	ENSG00000101190		0.587	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCFL5	HGNC	protein_coding	OTTHUMT00000080079.2	-	0	39	0	A	NM_006602		61488860	-1	tier1	-	no_errors	ENST00000335351	ensembl	human	known	74_37	silent	51.72	42	45	SNP	0.003	G	G	61488860	A	G	61488860	2	3	52	1	0	0	0	0	0	0	0	1	15746	59	3	4		4	TCFL5	20	61488860	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	751049	61488860	1536660	831	13171											
DIDO1	11083	genome.wustl.edu	37	chr20	61524253	61524253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaatcctttccaaatggTgctgagtcgagacaaaaaga	17	9	8	7	1	0	3	0	1	0	2	3	4	2	3	2	1	1	1	2	1	6	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:61524253T>C	ENST00000266070.4	-	13	3488	c.3163A>G	c.(3163-3165)Acc>Gcc	p.T1055A	DIDO1_ENST00000395343.1_Missense_Mutation_p.T1055A|DIDO1_ENST00000395335.2_Missense_Mutation_p.T1055A|DIDO1_ENST00000395340.1_Missense_Mutation_p.T1055A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1055					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCCAAATGGTGCTGAGTCGA	0.423																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													128	113	118					20																	61524253		2203	4300	6503	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3163A>G	20.37:g.61524253T>C	ENSP00000266070:p.Thr1055Ala		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.T1055A	ENST00000266070.4	37	c.3163	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171560	0.38315	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12039	3.08;3.08;2.72;2.72	5.88	3.64	0.41730	.	0.000000	0.42964	U	0.000629	T	0.12987	0.0315	M	0.64997	1.995	0.80722	D	1	B;B	0.14438	0.01;0.003	B;B	0.12156	0.006;0.007	T	0.10200	-1.0640	10	0.21540	T	0.41	-30.0915	6.1928	0.20534	0.0:0.1374:0.1352:0.7273	.	1055;1055	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	A	1055	ENSP00000266070:T1055A;ENSP00000378752:T1055A;ENSP00000378749:T1055A;ENSP00000378744:T1055A	ENSP00000266070:T1055A	T	-	1	0	DIDO1	60994698	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.964000	0.56780	0.493000	0.27837	0.482000	0.46254	ACC	DIDO1	-	NULL	ENSG00000101191		0.423	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	54	0	T	NM_080796		61524253	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	39.13	42	27	SNP	1.000	C	C	61524253	T	C	61524253	3	2	52	1	0	0	0	0	1	0	0	0	4536	1696	59	4	3604	4	DIDO1	20	61524253	Missense_Mutation	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	35393	61524253	1501267	832	13172											
KCNQ2	3785	genome.wustl.edu	37	chr20	62055548	62055548	+	Frame_Shift_Del	DEL	G	G	-																															accttggagacggctccggcGgggggtccttccttcaaaca																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:62055548delG	ENST00000359125.2	-	11	1403	c.1229delC	c.(1228-1230)ccgfs	p.P411fs	KCNQ2_ENST00000354587.3_Frame_Shift_Del_p.P401fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.P401fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.P401fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.P411fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.P411fs|KCNQ2_ENST00000344462.4_Frame_Shift_Del_p.P411fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	411					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CGGCTCCGGCGGGGGGTCCTT	0.647																																																	0													27	27	27					20																	62055548		2134	4202	6336	SO:0001589	frameshift_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1229delC	20.37:g.62055548delG	ENSP00000352035:p.Pro411fs		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P400fs	ENST00000359125.2	37	c.1199	CCDS13520.1	20																																																																																			KCNQ2	-	NULL	ENSG00000075043		0.647	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1		0	12	0	G	NM_172109		62055548	-1	tier1		no_errors	ENST00000354587	ensembl	human	known	74_37	frame_shift_del	26.00	37	13	DEL	1.000	-	-	62055548	G	-	62055548	7	5	52	1	0	1	0	1	0	0	0	0	8110	1116	39	0	1417	0	KCNQ2	20	62055548	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	531295	62055548	969972	833	13173											
PRIC285	85441	genome.wustl.edu	37	chr20	62195615	62195615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaccatgatgtgggcCgcgcggaagcccagggtgcc	6	7	14	14	3	1	1	1	1	0	0	2	2	2	2	5	3	2	0	5	3	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:62195615C>T	ENST00000467148.1	-	8	4629	c.4560G>A	c.(4558-4560)gcG>gcA	p.A1520A	HELZ2_ENST00000427522.2_Silent_p.A951A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1520					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGATGTGGGCCGCGCGGAAGC	0.647																																																	0													33	22	26					20																	62195615		2186	4298	6484	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4560G>A	20.37:g.62195615C>T			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.A1520	ENST00000467148.1	37	c.4560	CCDS33508.1	20																																																																																			HELZ2	-	NULL	ENSG00000130589		0.647	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	22	0	C	NM_001037335		62195615	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	36.84	48	28	SNP	0.005	T	T	62195615	C	T	62195615	2	4	52	1	0	0	0	0	0	0	0	1	12527	639	23	1		1	PRIC285	20	62195615	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	140067	62195615	829905	834	13174											
C20orf135	140701	genome.wustl.edu	37	chr20	62494101	62494101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgcgctcctaccgtgCacgctgcgaagaggagctgg	6	7	15	13	4	0	1	0	0	0	1	1	3	1	2	2	2	6	6	2	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr20:62494101C>T	ENST00000369916.3	+	1	1536	c.1208C>T	c.(1207-1209)gCa>gTa	p.A403V	TPD52L2_ENST00000348257.5_5'Flank|TPD52L2_ENST00000351424.4_5'Flank|TPD52L2_ENST00000217121.5_5'Flank|TPD52L2_ENST00000369927.4_5'Flank|TPD52L2_ENST00000352482.4_5'Flank|TPD52L2_ENST00000358548.4_5'Flank|C20ORF135_ENST00000601296.1_5'Flank|TPD52L2_ENST00000346249.4_5'Flank	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	403							hydrolase activity (GO:0016787)			endometrium(2)|kidney(1)|lung(3)	6						TCCTACCGTGCACGCTGCGAA	0.736																																																	0													11	10	10					20																	62494101		1969	3791	5760	SO:0001583	missense	0				CCDS13539.1	20q13.33	2013-01-17	2010-12-09	2010-12-09	ENSG00000183260	ENSG00000183260		"Abhydrolase domain containing"	16128	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 135"	C20orf135			Standard	NM_080622		Approved	dJ591C20.1	uc002ygx.1	Q9H3Z7	OTTHUMG00000033010	ENST00000369916.3:c.1208C>T	20.37:g.62494101C>T	ENSP00000358932:p.Ala403Val			Missense_Mutation	SNP	pfam_AB_hydrolase_1	p.A403V	ENST00000369916.3	37	c.1208	CCDS13539.1	20	.	.	.	.	.	.	.	.	.	.	C	5.629	0.300723	0.10678	.	.	ENSG00000183260	ENST00000369916	T	0.46451	0.87	4.65	0.0225	0.14133	.	1.158010	0.06226	N	0.687775	T	0.28466	0.0704	L	0.34521	1.04	0.09310	N	1	B	0.24092	0.097	B	0.22601	0.04	T	0.30650	-0.9971	10	0.51188	T	0.08	-8.4404	1.421	0.02312	0.3622:0.343:0.1308:0.164	.	403	Q9H3Z7	ABHGB_HUMAN	V	403	ENSP00000358932:A403V	ENSP00000358932:A403V	A	+	2	0	ABHD16B	61964545	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.452000	0.21795	0.064000	0.16427	-0.189000	0.12847	GCA	ABHD16B	-	NULL	ENSG00000183260		0.736	ABHD16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD16B	HGNC	protein_coding	OTTHUMT00000080254.1		0	28	0	C			62494101	1			no_errors	ENST00000369916	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.002	T	T	62494101	C	T	62494101	3	4	52	1	0	0	0	0	1	0	0	0	2095	710	25	3	1210	3	C20orf135	20	62494101	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	298486	62494101	531419	835	13175											
KRTAP24-1	643803	genome.wustl.edu	37	chr21	31655068	31655068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttcaccgtaggattcttgGcagtaatccaggagccagag	10	9	12	10	1	2	1	1	0	1	1	3	3	3	3	3	3	1	4	3	3	2	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:31655068G>A	ENST00000340345.4	-	1	208	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	61						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGATTCTTGGCAGTAATCCA	0.512																																																	0													89	90	89					21																	31655068		1977	4172	6149	SO:0001819	synonymous_variant	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.183C>T	21.37:g.31655068G>A			Q1XDX0	Silent	SNP	pfam_KRTAP_PMG	p.C61	ENST00000340345.4	37	c.183	CCDS42915.1	21																																																																																			KRTAP24-1	-	pfam_KRTAP_PMG	ENSG00000188694		0.512	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	HGNC	protein_coding	OTTHUMT00000246806.2	-	0	38	0	G	NM_001085455		31655068	-1	tier1	-	no_errors	ENST00000340345	ensembl	human	known	74_37	silent	70.37	15	38	SNP	1.000	A	A	31655068	G	A	31655068	2	1	52	1	0	0	0	0	0	0	0	1	8570	1195	42	3		3	KRTAP24-1	21	31655068	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09		31655068	16474827	836	13176											
RUNX1	861	genome.wustl.edu	37	chr21	36206863	36206863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaaaaggacaagctccCgggcttggtctgatcatcta	10	9	11	11	2	3	1	1	1	2	0	5	3	4	3	1	4	1	2	1	4	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:36206863C>T	ENST00000344691.4	-	4	2145	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000325074.5_Missense_Mutation_p.G205R|RUNX1_ENST00000358356.5_Missense_Mutation_p.G190R|RUNX1_ENST00000300305.3_Missense_Mutation_p.G217R|RUNX1_ENST00000437180.1_Missense_Mutation_p.G217R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	190	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GACAAGCTCCCGGGCTTGGTC	0.627			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													66	72	70					21																	36206863		2203	4300	6503	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"aml1 oncogene"	151385	"acute myeloid leukemia 1"	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.568G>A	21.37:g.36206863C>T	ENSP00000340690:p.Gly190Arg		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt	p.G217R	ENST00000344691.4	37	c.649	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310302	0.81358	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399245;ENST00000358356;ENST00000399237	D;D;D;D;D;D	0.99277	-4.15;-4.16;-4.16;-4.15;-5.67;-5.62	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	D	0.99230	0.9732	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;0.998;1.0;0.999	D	0.99705	1.1005	10	0.48119	T	0.1	-16.7975	18.0084	0.89216	0.0:1.0:0.0:0.0	.	217;190;217;190	Q2TAM6;Q01196-3;Q01196-8;Q01196	.;.;.;RUNX1_HUMAN	R	190;217;217;205;193;190;205	ENSP00000340690:G190R;ENSP00000300305:G217R;ENSP00000409227:G217R;ENSP00000319459:G205R;ENSP00000351123:G190R;ENSP00000382182:G205R	ENSP00000300305:G217R	G	-	1	0	RUNX1	35128733	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	5.850000	0.69473	2.254000	0.74563	0.407000	0.27541	GGG	RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.627	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	-	0	49	0	C			36206863	-1	tier1	-	no_errors	ENST00000300305	ensembl	human	known	74_37	missense	32.88	49	24	SNP	1.000	T	T	36206863	C	T	36206863	3	4	52	1	0	0	0	0	1	0	0	0	13791	652	23	1	838	1	RUNX1	21	36206863	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	4551795	36206863	11923032	837	13177											
SIK1	150094	genome.wustl.edu	37	chr21	44839827	44839827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccgatactccttgagcCgctcaaggaggaggtaataa	12	9	10	10	2	1	1	1	1	0	0	3	4	3	3	3	3	2	2	3	3	4	5			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:44839827C>T	ENST00000270162.6	-	9	1163	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	344					cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	CTCCTTGAGCCGCTCAAGGAG	0.617																																																	0													47	45	45					21																	44839827		2200	4297	6497	SO:0001583	missense	0			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1031G>A	21.37:g.44839827C>T	ENSP00000270162:p.Arg344Gln		A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R344Q	ENST00000270162.6	37	c.1031	CCDS33575.1	21	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757680	0.89843	.	.	ENSG00000142178	ENST00000270162	T	0.74737	-0.87	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88055	0.6334	M	0.85197	2.74	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.89845	0.4005	10	0.72032	D	0.01	.	18.649	0.91423	0.0:1.0:0.0:0.0	.	344	P57059	SIK1_HUMAN	Q	344	ENSP00000270162:R344Q	ENSP00000270162:R344Q	R	-	2	0	SIK1	43664255	1.000000	0.71417	0.982000	0.44146	0.187000	0.23431	5.289000	0.65656	2.400000	0.81607	0.561000	0.74099	CGG	SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000142178		0.617	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	-	0	30	0	C	NM_173354		44839827	-1	tier1	-	no_errors	ENST00000270162	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	T	T	44839827	C	T	44839827	3	4	52	1	0	0	0	0	1	0	0	0	14362	652	23	1	1344	1	SIK1	21	44839827	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	8632964	44839827	3290068	838	13178											
C21orf29	54084	genome.wustl.edu	37	chr21	45947292	45947292	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggctttgcgattggcTgtggccacaaagagccccac	8	9	13	11	1	0	1	0	0	0	1	0	3	0	1	3	3	2	2	3	3	1	2	rs140251163		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:45947292T>G	ENST00000323084.4	-	7	1097	c.1032A>C	c.(1030-1032)acA>acC	p.T344T	TSPEAR_ENST00000397916.1_Silent_p.T276T	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	344					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGCGATTGGCTGTGGCCACAA	0.562																																																	0													255	224	234					21																	45947292		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1032A>C	21.37:g.45947292T>G				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.T344	ENST00000323084.4	37	c.1032	CCDS13712.1	21																																																																																			TSPEAR	-	pfscan_EAR	ENSG00000175894		0.562	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0	34	0	T	NM_144991		45947292	-1	tier1	-	no_errors	ENST00000323084	ensembl	human	known	74_37	silent	78.79	7	26	SNP	0.000	G	G	45947292	T	G	45947292	2	3	52	1	0	0	0	0	0	0	0	1	2131	1567	55	4		4	C21orf29	21	45947292	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	1107465	45947292	2182603	839	13179											
PCNT	5116	genome.wustl.edu	37	chr21	47858171	47858173	+	In_Frame_Del	DEL	AGA	AGA	-																															gctcagcacggtgacccaggAgaagctggagctgagcagag																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr21:47858171_47858173delAGA	ENST00000359568.5	+	41	9301_9303	c.9194_9196delAGA	c.(9193-9198)gagaag>gag	p.K3066del	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3066	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGACCCAGGAGAAGCTGGAGCT	0.522																																																	0																																										SO:0001651	inframe_deletion	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9194_9196delAGA	21.37:g.47858171_47858173delAGA	ENSP00000352572:p.Lys3066del		O43152|Q7Z7C9	In_Frame_Del	DEL	pfam_PACT_domain	p.K3066in_frame_del	ENST00000359568.5	37	c.9194_9196	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.522	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0	29	0	AGA	NM_006031		47858173	1	tier1		no_errors	ENST00000359568	ensembl	human	known	74_37	in_frame_del	59.09	18	26	DEL	1.000:1.000:1.000	-	-	47858173	AGA	-	47858171	7	5	52	1	0	1	0	1	0	0	0	0	11629	304	11	0	9356	0	PCNT	21	47858171	In_Frame_Del	DEL	AGA	TCGA-L5-A43J-01A-12D-A247-09	1910879	47858171	271724	840	13180											
MICAL3	57553	genome.wustl.edu	37	chr22	18376579	18376579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccagaactcaccattgCgagtcaatttgggggtggtt	10	10	11	10	1	2	1	2	0	0	1	2	2	2	1	3	3	2	1	3	3	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:18376579C>T	ENST00000441493.2	-	11	1893	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	MICAL3_ENST00000383094.3_Missense_Mutation_p.R514H|MICAL3_ENST00000444520.1_Missense_Mutation_p.R514H|MICAL3_ENST00000585038.1_Missense_Mutation_p.R514H|MICAL3_ENST00000414725.2_Missense_Mutation_p.R514H|MICAL3_ENST00000429452.1_Missense_Mutation_p.R514H|MICAL3_ENST00000400561.2_Missense_Mutation_p.R514H|MICAL3_ENST00000207726.7_Missense_Mutation_p.R514H	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	514					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTCACCATTGCGAGTCAATTT	0.502																																																	0													22	24	23					22																	18376579		1567	3575	5142	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1541G>A	22.37:g.18376579C>T	ENSP00000416015:p.Arg514His		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R514H	ENST00000441493.2	37	c.1541	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924552	0.73213	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.59772	0.24;2.73;2.73;2.73;2.73;2.73;2.73	5.32	5.32	0.75619	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.78723	0.4328	M	0.84585	2.705	0.50813	D	0.999893	D;D;P;P;D	0.89917	0.999;0.993;0.874;0.727;1.0	D;D;B;B;P	0.76071	0.987;0.921;0.363;0.14;0.902	T	0.80910	-0.1171	10	0.51188	T	0.08	.	17.2126	0.86935	0.0:1.0:0.0:0.0	.	514;514;514;514;514	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	H	514	ENSP00000416015:R514H;ENSP00000414846:R514H;ENSP00000383406:R514H;ENSP00000410315:R514H;ENSP00000391827:R514H;ENSP00000372574:R514H;ENSP00000207726:R514H	ENSP00000207726:R514H	R	-	2	0	XXbac-B461K10.4;MICAL3	16756579	1.000000	0.71417	0.998000	0.56505	0.731000	0.41821	6.469000	0.73555	2.485000	0.83878	0.655000	0.94253	CGC	MICAL3	-	superfamily_CH-domain	ENSG00000243156		0.502	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0	18	0	C			18376579	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.992	T	T	18376579	C	T	18376579	3	4	52	1	0	0	0	0	1	0	0	0	9609	768	27	1	5292	1	MICAL3	22	18376579	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09		18376579	32927987	841	13181											
ARVCF	421	genome.wustl.edu	37	chr22	19961708	19961708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaagttccggctctccGtgaggagggagaggtagaga	9	9	17	6	2	1	4	0	2	1	2	3	7	2	5	2	4	0	4	2	4	2	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:19961708G>A	ENST00000263207.3	-	12	2306	c.2015C>T	c.(2014-2016)aCg>aTg	p.T672M	ARVCF_ENST00000406522.1_Missense_Mutation_p.T603M|ARVCF_ENST00000344269.3_Missense_Mutation_p.T609M|ARVCF_ENST00000401994.1_Missense_Mutation_p.T609M|ARVCF_ENST00000406259.1_Missense_Mutation_p.T666M	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	672					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CCGGCTCTCCGTGAGGAGGGA	0.647																																																	0													56	54	55					22																	19961708		2203	4300	6503	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2015C>T	22.37:g.19961708G>A	ENSP00000263207:p.Thr672Met		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T672M	ENST00000263207.3	37	c.2015	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920709	0.92249	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.68	4.68	0.58851	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.971;0.997	T	0.75451	-0.3313	9	.	.	.	-16.2574	16.8906	0.86086	0.0:0.0:1.0:0.0	.	672;188	O00192;E7EV58	ARVC_HUMAN;.	M	672;609;609;603;666	ENSP00000263207:T672M;ENSP00000342042:T609M;ENSP00000384341:T609M;ENSP00000384732:T603M;ENSP00000385444:T666M	.	T	-	2	0	ARVCF	18341708	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	3.018000	0.49625	2.596000	0.87737	0.561000	0.74099	ACG	ARVCF	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000099889		0.647	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0	39	0	G	NM_001670		19961708	-1	tier1	-	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	47.37	30	27	SNP	1.000	A	A	19961708	G	A	19961708	3	1	52	1	0	0	0	0	1	0	0	0	1004	1145	40	1	905	1	ARVCF	22	19961708	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1585129	19961708	31342858	842	13182											
DGCR8	54487	genome.wustl.edu	37	chr22	20077689	20077689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgacccggggccccCggacgagaaagacccactag	9	3	15	14	3	0	3	0	1	0	2	0	5	0	4	4	4	1	1	4	4	2	1	rs560910865		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:20077689C>T	ENST00000351989.3	+	5	1643	c.1214C>T	c.(1213-1215)cCg>cTg	p.P405L	DGCR8_ENST00000383024.2_Missense_Mutation_p.P405L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P405L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	405	Necessary for heme-binding and pri-miRNA processing.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					CCGGGGCCCCCGGACGAGAAA	0.627													C|||	1	0.000199681	0	0	5008	,	,		15603	0.001		0	False		,,,				2504	0																0													51	60	57					22																	20077689		2203	4300	6503	SO:0001583	missense	0			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1214C>T	22.37:g.20077689C>T	ENSP00000263209:p.Pro405Leu		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.P405L	ENST00000351989.3	37	c.1214	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	C	4.741	0.137751	0.09032	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.28454	1.61;1.61;1.61	5.14	-0.923	0.10465	.	1.182020	0.05757	N	0.604246	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25572	-1.0128	10	0.25106	T	0.35	1.2984	4.5223	0.11964	0.1507:0.4035:0.0:0.4459	.	405;405	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	L	405	ENSP00000263209:P405L;ENSP00000372488:P405L;ENSP00000384726:P405L	ENSP00000263209:P405L	P	+	2	0	DGCR8	18457689	0.000000	0.05858	0.004000	0.12327	0.295000	0.27426	-0.210000	0.09345	0.038000	0.15604	0.467000	0.42956	CCG	DGCR8	-	NULL	ENSG00000128191		0.627	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	-	0	13	0	C			20077689	1	tier1	-	no_errors	ENST00000351989	ensembl	human	known	74_37	missense	53.12	15	17	SNP	0.000	T	T	20077689	C	T	20077689	3	4	52	1	0	0	0	0	1	0	0	0	4478	652	23	1	1228	1	DGCR8	22	20077689	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	115981	20077689	31226877	843	13183											
DGCR6L	85359	genome.wustl.edu	37	chr22	20303643	20303643	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcgcccccagtaccTctagttctcgctgctgagcc	4	10	9	18	2	2	1	0	1	2	0	3	1	2	1	5	0	5	4	5	0	2	3	rs575784275		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:20303643T>A	ENST00000248879.3	-	3	462	c.371A>T	c.(370-372)gAg>gTg	p.E124V	DGCR6L_ENST00000405465.3_Intron|XXbac-B444P24.13_ENST00000608275.1_RNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	124						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					CCCCAGTACCTCTAGTTCTCG	0.692																																																	0													23	25	24					22																	20303643		2201	4297	6498	SO:0001630	splice_region_variant	0			AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.372+1A>T	22.37:g.20303643T>A			A8K1N7|B3KMC0|D3DX29|Q9BW33	Missense_Mutation	SNP	pfam_DGCR6	p.E124V	ENST00000248879.3	37	c.371	CCDS13778.1	22	.	.	.	.	.	.	.	.	.	.	T	11.68	1.711556	0.30322	.	.	ENSG00000128185	ENST00000248879	T	0.34275	1.37	1.98	1.98	0.26296	.	0.000000	0.85682	D	0.000000	T	0.52629	0.1746	M	0.75447	2.3	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.76071	0.939;0.987	T	0.50363	-0.8837	10	0.36615	T	0.2	-20.2461	7.9455	0.29985	0.0:0.0:0.0:1.0	.	124;124	B3KMC0;Q9BY27	.;DGC6L_HUMAN	V	124	ENSP00000248879:E124V	ENSP00000248879:E124V	E	-	2	0	DGCR6L	18683643	1.000000	0.71417	0.949000	0.38748	0.496000	0.33645	3.339000	0.52135	1.185000	0.42971	0.254000	0.18369	GAG	DGCR6L	-	pfam_DGCR6	ENSG00000128185		0.692	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6L	HGNC	protein_coding	OTTHUMT00000318970.3	-	0	78	0	T	NM_033257	Missense_Mutation	20303643	-1	tier1	-	no_errors	ENST00000248879	ensembl	human	known	74_37	missense	33.59	84	43	SNP	1.000	A	A	20303643	T	A	20303643	5	1	52	1	0	0	0	0	0	0	1	0	4477	1565	54	5	303	5	DGCR6L	22	20303643	Splice_Site	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	225954	20303643	31000923	844	13184											
PI4KA	5297	genome.wustl.edu	37	chr22	21147531	21147531	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttccctgcactgctagaagCctagaaaagaacagaattat	15	9	8	9	0	0	4	0	0	0	4	1	4	1	4	2	0	4	3	2	0	8	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:21147531C>T	ENST00000572273.1	-	19	2334	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	PI4KA_ENST00000255882.6_Splice_Site_p.A760T|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	702					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGCTAGAAGCCTAGAAAAGA	0.333																																					GBM(136;1332 1831 3115 23601 50806)												0													130	119	123					22																	21147531		2203	4300	6503	SO:0001630	splice_region_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2104-1G>A	22.37:g.21147531C>T			Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.A760T	ENST00000572273.1	37	c.2278		22	.	.	.	.	.	.	.	.	.	.	C	33	5.205083	0.95033	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.69823	2.125	0.80722	D	1	P	0.52316	0.952	P	0.51945	0.685	T	0.72606	-0.4242	9	0.40728	T	0.16	-16.815	18.6746	0.91524	0.0:1.0:0.0:0.0	.	702	P42356	PI4KA_HUMAN	T	702	.	ENSP00000255882:A702T	A	-	1	0	PI4KA	19477531	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.518000	0.81795	2.653000	0.90120	0.655000	0.94253	GCT	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.333	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	22	0	C	NM_058004	Missense_Mutation	21147531	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	T	T	21147531	C	T	21147531	5	4	52	1	0	0	0	0	0	0	1	0	11912	753	26	3	4178	3	PI4KA	22	21147531	Splice_Site	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	843888	21147531	30157035	845	13185											
LZTR1	8216	genome.wustl.edu	37	chr22	21347194	21347194	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagatgtacaggttccagGtgtggggcctgtgggcctgt	5	10	19	7	0	0	1	0	0	0	1	1	2	1	1	3	6	1	2	3	6	1	2	rs143868364	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:21347194G>A	ENST00000215739.8	+	11	1619		c.e11+1		LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGGTTCCAGGTGTGGGGCCT	0.632																																																	0													42	43	43					22																	21347194		2197	4300	6497	SO:0001630	splice_region_variant	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1260+1G>A	22.37:g.21347194G>A			Q14776|Q20WK0	Splice_Site	SNP	-	e11+1	ENST00000215739.8	37	c.1260+1	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904191	0.72754	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	.	.	.	5.18	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9807	0.35964	0.0995:0.0:0.9005:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LZTR1	19677194	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	9.470000	0.97683	2.582000	0.87167	0.655000	0.94253	.	LZTR1	-	-	ENSG00000099949		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	25	0	G	NM_006767	Intron	21347194	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	splice_site	42.86	36	27	SNP	1.000	A	A	21347194	G	A	21347194	5	1	52	1	0	0	0	0	0	0	1	0	9173	1275	44	3	1303	3	LZTR1	22	21347194	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	199663	21347194	29957372	846	13186											
PPM1F	9647	genome.wustl.edu	37	chr22	22287853	22287853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtgggcagctctggctgGcgggcagcgttggtgtgcac	3	10	18	10	2	2	0	0	0	2	0	2	0	2	0	0	5	3	6	0	5	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:22287853G>A	ENST00000263212.5	-	5	762	c.657C>T	c.(655-657)cgC>cgT	p.R219R	PPM1F_ENST00000407142.1_Silent_p.R51R|PPM1F_ENST00000538191.1_Silent_p.R115R|PPM1F_ENST00000397495.4_Silent_p.R219R	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	219					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCTCTGGCTGGCGGGCAGCGT	0.627																																																	0													62	55	57					22																	22287853		2203	4300	6503	SO:0001819	synonymous_variant	0			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	19388	protein-coding gene	gene with protein product	"partner of PIX 2", "Ca(2+)/calmodulin-dependent protein kinase phosphatase"		"protein phosphatase 1F (PP2C domain containing)"			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.657C>T	22.37:g.22287853G>A			A8K6G3|B7Z2C3|Q96PM2	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R219	ENST00000263212.5	37	c.657	CCDS13796.1	22																																																																																			PPM1F	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000100034		0.627	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	HGNC	protein_coding	OTTHUMT00000320267.2	-	0	21	0	G	NM_014634		22287853	-1	tier1	-	no_errors	ENST00000263212	ensembl	human	known	74_37	silent	47.92	25	23	SNP	0.093	A	A	22287853	G	A	22287853	2	1	52	1	0	0	0	0	0	0	0	1	12381	1190	42	3		3	PPM1F	22	22287853	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	940659	22287853	29016713	847	13187											
C22orf36	2678	genome.wustl.edu	37	chr22	24984229	24984229	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggacccttgctgctgcttCgagtgaggggtgaggtggta	5	11	17	8	1	0	2	0	2	0	0	1	4	0	3	1	5	3	4	1	5	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:24984229C>T	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Silent_p.S125S	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCTGCTGCTTCGAGTGAGGGG	0.597																																																	0													107	119	115					22																	24984229		2120	4234	6354	SO:0001627	intron_variant	0			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"CD molecules", "Gamma-glutamyltransferases"	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+4453C>T	22.37:g.24984229C>T			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	NULL	p.S125	ENST00000248923.4	37	c.375	CCDS42992.1	22																																																																																			FAM211B	-	NULL	ENSG00000178026		0.597	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM211B	HGNC	protein_coding	OTTHUMT00000319110.1	-	0	62	0	C	NM_013430		24984229	-1	tier1	-	no_errors	ENST00000318753	ensembl	human	known	74_37	silent	43.55	70	54	SNP	1.000	T	T	24984229	C	T	24984229	1	4	52	0	1	0	0	0	0	0	0	0	2153	871	31	1		1	C22orf36	22	24984229	Intron	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2696376	24984229	26320337	848	13188											
MYO18B	84700	genome.wustl.edu	37	chr22	26224901	26224901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgctgttctaccagcGgacctttgtctccacgctac	6	11	9	15	2	2	0	0	0	2	0	3	1	2	1	3	1	5	5	3	1	2	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:26224901G>A	ENST00000407587.2	+	15	3114	c.2945G>A	c.(2944-2946)cGg>cAg	p.R982Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R982Q|MYO18B_ENST00000335473.7_Missense_Mutation_p.R982Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	982	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTCTACCAGCGGACCTTTGTC	0.607																																																	0													60	66	64					22																	26224901		2054	4202	6256	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2945G>A	22.37:g.26224901G>A	ENSP00000386096:p.Arg982Gln		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R982Q	ENST00000407587.2	37	c.2945		22	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204389	0.79127	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72167	-0.63;-0.63;-0.63	4.69	1.34	0.21922	Myosin head, motor domain (2);	0.148358	0.43747	D	0.000537	T	0.69833	0.3155	L	0.43923	1.385	0.28399	N	0.918709	D;D;D;D	0.67145	0.981;0.996;0.992;0.995	P;P;P;P	0.58577	0.613;0.841;0.727;0.754	T	0.62258	-0.6892	10	0.56958	D	0.05	.	6.6915	0.23174	0.1612:0.0:0.6963:0.1426	.	495;982;982;982	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Q	982	ENSP00000441229:R982Q;ENSP00000334563:R982Q;ENSP00000386096:R982Q	ENSP00000334563:R982Q	R	+	2	0	MYO18B	24554901	0.141000	0.22595	0.979000	0.43373	0.853000	0.48598	0.415000	0.21181	0.582000	0.29556	0.563000	0.77884	CGG	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	38	0	G	NM_032608		26224901	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	45.21	39	33	SNP	0.987	A	A	26224901	G	A	26224901	3	1	52	1	0	0	0	0	1	0	0	0	10104	1116	39	1	2999	1	MYO18B	22	26224901	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1240672	26224901	25079665	849	13189											
SRRD	402055	genome.wustl.edu	37	chr22	26884176	26884176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttgaagtgtgtgtgttaCggcattgggaactttgccac	8	14	12	7	1	0	1	0	1	0	0	0	2	0	2	1	2	3	2	1	2	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:26884176C>T	ENST00000215917.7	+	3	446	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	144					rhythmic process (GO:0048511)					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTGTGTGTTACGGCATTGGGA	0.453																																																	0													176	172	173					22																	26884176		2018	4191	6209	SO:0001819	synonymous_variant	0			BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"hepatocellular carcinoma complicating hemochromatosis"	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.432C>T	22.37:g.26884176C>T			Q6NXP8	Silent	SNP	pfam_SRR1-like	p.Y144	ENST00000215917.7	37	c.432	CCDS42995.1	22																																																																																			SRRD	-	pfam_SRR1-like	ENSG00000100104		0.453	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRD	HGNC	protein_coding	OTTHUMT00000320423.2	-	0	19	0	C	NM_001013694		26884176	1	tier1	-	no_errors	ENST00000215917	ensembl	human	known	74_37	silent	40.62	19	13	SNP	0.950	T	T	26884176	C	T	26884176	2	4	52	1	0	0	0	0	0	0	0	1	15214	547	19	1		1	SRRD	22	26884176	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	659275	26884176	24420390	850	13190											
EWSR1	2130	genome.wustl.edu	37	chr22	29693886	29693886	+	Frame_Shift_Del	DEL	G	G	-																															gcctccaatgaacagtatgcGgggtggtctgccaccccgtg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:29693886delG	ENST00000397938.2	+	13	1683	c.1364delG	c.(1363-1365)cggfs	p.R455fs	EWSR1_ENST00000406548.1_Frame_Shift_Del_p.R454fs|EWSR1_ENST00000332035.6_Frame_Shift_Del_p.R399fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.R460fs|EWSR1_ENST00000331029.7_Frame_Shift_Del_p.R417fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.R382fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	455	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AACAGTATGCGGGGTGGTCTG	0.488			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0													79	81	80					22																	29693886		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1364delG	22.37:g.29693886delG	ENSP00000381031:p.Arg455fs		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Frame_Shift_Del	DEL	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G461fs	ENST00000397938.2	37	c.1379	CCDS13851.1	22																																																																																			EWSR1	-	NULL	ENSG00000182944		0.488	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1		0	26	0	G	NM_005243		29693886	1	tier1		no_errors	ENST00000414183	ensembl	human	known	74_37	frame_shift_del	18.00	41	9	DEL	0.999	-	-	29693886	G	-	29693886	7	5	52	1	0	1	0	1	0	0	0	0	5312	1116	39	0	1531	0	EWSR1	22	29693886	Frame_Shift_Del	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	2809710	29693886	21610680	851	13191											
TCN2	6948	genome.wustl.edu	37	chr22	31011717	31011717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatttcccagctgctgcccGttctgaaccacaagacctac	9	10	7	15	1	1	3	0	2	1	1	2	3	2	3	4	0	5	3	4	0	3	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:31011717G>A	ENST00000215838.3	+	6	1377	c.883G>A	c.(883-885)Gtt>Att	p.V295I	TCN2_ENST00000407817.3_Missense_Mutation_p.V268I|TCN2_ENST00000405742.3_Missense_Mutation_p.V291I			P20062	TCO2_HUMAN	transcobalamin II	295					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCTGCTGCCCGTTCTGAACCA	0.522																																																	0													173	144	154					22																	31011717		2203	4300	6503	SO:0001583	missense	0				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.883G>A	22.37:g.31011717G>A	ENSP00000215838:p.Val295Ile		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.V295I	ENST00000215838.3	37	c.883	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330459	0.24167	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.36157	1.27;1.27;1.27	6.06	2.79	0.32731	.	0.331913	0.35585	N	0.003103	T	0.30324	0.0761	L	0.50333	1.59	0.09310	N	0.999997	B;B;B	0.28470	0.213;0.027;0.027	B;B;B	0.26693	0.072;0.051;0.051	T	0.16778	-1.0391	10	0.44086	T	0.13	-12.0008	9.8176	0.40862	0.2205:0.0:0.7795:0.0	.	268;291;295	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	I	295;291;268	ENSP00000215838:V295I;ENSP00000385914:V291I;ENSP00000384914:V268I	ENSP00000215838:V295I	V	+	1	0	TCN2	29341717	0.005000	0.15991	0.004000	0.12327	0.422000	0.31414	0.872000	0.28037	0.433000	0.26313	0.655000	0.94253	GTT	TCN2	-	pfam_Cbl-bd_transpt_euk	ENSG00000185339		0.522	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	-	0	28	0	G	NM_000355		31011717	1	tier1	-	no_errors	ENST00000215838	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.042	A	A	31011717	G	A	31011717	3	1	52	1	0	0	0	0	1	0	0	0	15754	1145	40	1	905	1	TCN2	22	31011717	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1317831	31011717	20292849	852	13192											
SLC16A8	23539	genome.wustl.edu	37	chr22	38474461	38474461	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgggctcgccccgggcGctgagcacctccagggcctc	3	7	14	17	3	1	1	0	1	1	0	4	1	2	1	5	3	1	3	5	3	0	0	rs140740838|rs377373294	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:38474461G>A	ENST00000320521.5	-	5	1557	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	SLC16A8_ENST00000469516.1_5'UTR	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	483					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CGCCCCGGGCGCTGAGCACCT	0.647																																																	0													47	51	50					22																	38474461		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"Solute carriers"	16270	protein-coding gene	gene with protein product	"monocarboxylate transporter 3"	610409	"solute carrier 16 (monocarboxylic acid transporters), member 8"			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.1449C>T	22.37:g.38474461G>A			Q9UBE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S483	ENST00000320521.5	37	c.1449	CCDS13966.1	22																																																																																			SLC16A8	-	NULL	ENSG00000100156		0.647	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A8	HGNC	protein_coding	OTTHUMT00000321724.1	-	0	19	0	G	NM_013356		38474461	-1	tier1	-	no_errors	ENST00000320521	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.990	A	A	38474461	G	A	38474461	2	1	52	1	0	0	0	0	0	0	0	1	14459	1078	38	1		1	SLC16A8	22	38474461	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	7462744	38474461	12830105	853	13193											
TOMM22	56993	genome.wustl.edu	37	chr22	39078977	39078977	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagttgcaaatggagcaAcagcagcaactgcagcagcg	15	4	13	9	1	0	1	0	0	0	1	0	3	0	2	0	1	9	7	0	1	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:39078977A>G	ENST00000216034.4	+	3	361	c.330A>G	c.(328-330)caA>caG	p.Q110Q	RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000412067.1_RNA|RP3-508I15.9_ENST00000444381.1_RNA	NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	110	Poly-Gln.				cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					AAATGGAGCAACAGCAGCAAC	0.517																																																	0													104	97	99					22																	39078977		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040119	CCDS13975.1	22q12-q13	2010-07-29			ENSG00000100216	ENSG00000100216			18002	protein-coding gene	gene with protein product		607046				10982837, 10900208	Standard	NM_020243		Approved	TOM22	uc003awe.3	Q9NS69	OTTHUMG00000150991	ENST00000216034.4:c.330A>G	22.37:g.39078977A>G				Silent	SNP	pfam_Tom22	p.Q110	ENST00000216034.4	37	c.330	CCDS13975.1	22																																																																																			TOMM22	-	pfam_Tom22	ENSG00000100216		0.517	TOMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM22	HGNC	protein_coding	OTTHUMT00000320842.1	-	0	56	0	A			39078977	1	tier1	-	no_errors	ENST00000216034	ensembl	human	known	74_37	silent	21.05	90	24	SNP	0.994	G	G	39078977	A	G	39078977	2	3	52	1	0	0	0	0	0	0	0	1	16403	40	2	4		4	TOMM22	22	39078977	Silent	SNP	A	TCGA-L5-A43J-01A-12D-A247-09	604516	39078977	12225589	854	13194											
TCF20	6942	genome.wustl.edu	37	chr22	42608248	42608248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctgggcctctgctccGcccaggagacattttcaatt	6	11	8	16	1	2	1	1	0	1	1	4	2	4	1	5	2	1	1	5	2	1	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:42608248G>A	ENST00000359486.3	-	1	3200	c.3064C>T	c.(3064-3066)Cgg>Tgg	p.R1022W	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.R1022W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1022					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTCTGCTCCGCCCAGGAGAC	0.547																																																	0													46	49	48					22																	42608248		2203	4300	6503	SO:0001583	missense	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3064C>T	22.37:g.42608248G>A	ENSP00000352463:p.Arg1022Trp		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.R1022W	ENST00000359486.3	37	c.3064	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386232	0.61956	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.70164	-0.46;-0.46	5.92	2.48	0.30137	.	0.000000	0.64402	D	0.000001	T	0.70491	0.3230	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.73519	-0.3957	10	0.72032	D	0.01	-22.7994	15.0343	0.71731	0.0:0.0:0.4266:0.5734	.	1022;1022	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	W	1022	ENSP00000352463:R1022W;ENSP00000335561:R1022W	ENSP00000335561:R1022W	R	-	1	2	TCF20	40938192	0.919000	0.31177	0.998000	0.56505	0.980000	0.70556	0.804000	0.27098	0.496000	0.27904	-0.262000	0.10625	CGG	TCF20	-	NULL	ENSG00000100207		0.547	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	-	0	39	0	G	NM_181492		42608248	-1	tier1	-	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.895	A	A	42608248	G	A	42608248	3	1	52	1	0	0	0	0	1	0	0	0	15737	1086	38	1	2856	1	TCF20	22	42608248	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	3529271	42608248	8696318	855	13195											
RRP7A	27341	genome.wustl.edu	37	chr22	42910203	42910203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctctccagcacccgcaaGctggctgcctcagtccgggg	5	7	11	18	2	2	0	1	0	1	0	5	0	4	0	5	3	3	4	5	3	1	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:42910203G>A	ENST00000323013.6	-	6	681	c.666C>T	c.(664-666)agC>agT	p.S222S	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	222							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GCACCCGCAAGCTGGCTGCCT	0.662																																																	0													29	24	26					22																	42910203		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.666C>T	22.37:g.42910203G>A			A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	NULL	p.S222	ENST00000323013.6	37	c.666	CCDS14036.1	22																																																																																			RRP7A	-	NULL	ENSG00000189306		0.662	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP7A	HGNC	protein_coding	OTTHUMT00000320451.1	-	0	41	0	G	NM_015703		42910203	-1	tier1	-	no_errors	ENST00000323013	ensembl	human	known	74_37	silent	30.68	61	27	SNP	1.000	A	A	42910203	G	A	42910203	2	1	52	1	0	0	0	0	0	0	0	1	13734	962	34	3		3	RRP7A	22	42910203	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	301955	42910203	8394363	856	13196											
TTLL12	23170	genome.wustl.edu	37	chr22	43570300	43570300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggcagccagggtgggccctCggggccacctgcccggcgcg	3	3	19	16	4	0	0	0	0	0	0	1	0	0	0	5	6	2	1	5	6	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:43570300C>G	ENST00000216129.6	-	8	1207	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	382	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGTGGGCCCTCGGGGCCACCT	0.657																																																	0													51	58	56					22																	43570300		2202	4298	6500	SO:0001583	missense	0			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1144G>C	22.37:g.43570300C>G	ENSP00000216129:p.Glu382Gln		Q20WK5|Q9UGU3	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.E382Q	ENST00000216129.6	37	c.1144	CCDS14047.1	22	.	.	.	.	.	.	.	.	.	.	C	10.40	1.341032	0.24339	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.05649	3.41	4.78	4.78	0.61160	.	0.351157	0.29684	N	0.011461	T	0.10252	0.0251	L	0.57536	1.79	0.31133	N	0.707559	B;B	0.25719	0.132;0.04	B;B	0.29785	0.107;0.069	T	0.05402	-1.0887	10	0.19147	T	0.46	-11.7952	17.832	0.88685	0.0:1.0:0.0:0.0	.	382;382	B1AH89;Q14166	.;TTL12_HUMAN	Q	382	ENSP00000216129:E382Q	ENSP00000216129:E382Q	E	-	1	0	TTLL12	41900244	0.941000	0.31946	0.983000	0.44433	0.450000	0.32258	2.044000	0.41241	2.179000	0.69175	0.655000	0.94253	GAG	TTLL12	-	pfam_TTL/TTLL_fam	ENSG00000100304		0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	-	0	16	0	C	NM_015140		43570300	-1	tier1	-	no_errors	ENST00000216129	ensembl	human	known	74_37	missense	40.38	31	21	SNP	0.888	G	G	43570300	C	G	43570300	3	3	52	1	0	0	0	0	1	0	0	0	16774	893	31	5	818	5	TTLL12	22	43570300	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	660097	43570300	7734266	857	13197											
PHF21B	112885	genome.wustl.edu	37	chr22	45312251	45312251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccatggcggcggcattgCtgggggaggtggagatgatg	6	7	22	6	2	0	2	0	1	0	1	0	4	0	3	1	8	1	2	1	8	0	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:45312251C>T	ENST00000313237.5	-	4	623	c.473G>A	c.(472-474)aGc>aAc	p.S158N	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.S146N|PHF21B_ENST00000396103.3_Missense_Mutation_p.S158N|PHF21B_ENST00000404079.2_Missense_Mutation_p.S146N	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	158							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GGCGGCATTGCTGGGGGAGGT	0.697																																																	0													20	26	24					22																	45312251		2201	4297	6498	SO:0001583	missense	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.473G>A	22.37:g.45312251C>T	ENSP00000324403:p.Ser158Asn		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S158N	ENST00000313237.5	37	c.473	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014101	0.75161	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	D;D;D;T;T	0.85088	-1.94;-1.58;-1.57;1.43;0.53	5.09	5.09	0.68999	.	0.149694	0.46145	N	0.000316	D	0.88577	0.6474	L	0.38175	1.15	0.39481	D	0.967894	D;D;D;D	0.67145	0.996;0.99;0.983;0.968	D;P;P;P	0.75484	0.986;0.904;0.804;0.587	D	0.86857	0.2027	10	0.25751	T	0.34	-15.9168	18.516	0.90936	0.0:1.0:0.0:0.0	.	146;158;146;158	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	N	158;158;146;146;146	ENSP00000324403:S158N;ENSP00000379410:S158N;ENSP00000385105:S146N;ENSP00000388619:S146N;ENSP00000401294:S146N	ENSP00000324403:S158N	S	-	2	0	PHF21B	43690915	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	1.521000	0.35910	2.368000	0.80403	0.655000	0.94253	AGC	PHF21B	-	NULL	ENSG00000056487		0.697	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0	25	0	C	NM_138415		45312251	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	T	T	45312251	C	T	45312251	3	4	52	1	0	0	0	0	1	0	0	0	11873	797	28	3	1162	3	PHF21B	22	45312251	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1741951	45312251	5992315	858	13198											
PKDREJ	10343	genome.wustl.edu	37	chr22	46655330	46655330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttgttgtgccacacaCggatggaatggatgtccccc	7	10	11	13	2	0	0	0	0	0	0	2	3	1	3	4	3	1	2	4	3	1	2	rs558518913		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:46655330C>T	ENST00000253255.5	-	1	3889	c.3890G>A	c.(3889-3891)cGt>cAt	p.R1297H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1297	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTGCCACACACGGATGGAATG	0.453													C|||	1	0.000199681	8e-04	0	5008	,	,		21260	0		0	False		,,,				2504	0																0													125	116	119					22																	46655330		2203	4300	6503	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3890G>A	22.37:g.46655330C>T	ENSP00000253255:p.Arg1297His		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.R1297H	ENST00000253255.5	37	c.3890	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286833	0.40494	.	.	ENSG00000130943	ENST00000253255	T	0.67523	-0.27	5.36	2.07	0.26955	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.213541	0.31415	N	0.007682	T	0.51924	0.1703	L	0.45285	1.41	0.09310	N	1	P	0.35411	0.5	B	0.30572	0.117	T	0.41910	-0.9482	10	0.45353	T	0.12	-12.4166	8.4737	0.33001	0.0:0.6969:0.0:0.3031	.	1297	Q9NTG1	PKDRE_HUMAN	H	1297	ENSP00000253255:R1297H	ENSP00000253255:R1297H	R	-	2	0	PKDREJ	45033994	0.191000	0.23288	0.013000	0.15412	0.901000	0.52897	0.543000	0.23237	0.323000	0.23307	0.511000	0.50034	CGT	PKDREJ	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	ENSG00000130943		0.453	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	-	0	57	0	C	NM_006071		46655330	-1	tier1	-	no_errors	ENST00000253255	ensembl	human	known	74_37	missense	40.00	33	22	SNP	0.031	T	T	46655330	C	T	46655330	3	4	52	1	0	0	0	0	1	0	0	0	12009	536	19	1	2875	1	PKDREJ	22	46655330	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1343079	46655330	4649236	859	13199											
CELSR1	9620	genome.wustl.edu	37	chr22	46931227	46931227	+	Frame_Shift_Del	DEL	C	C	-																															tcttaggcccagcgctgccgCcccccagaaaggtggaggcc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:46931227delC	ENST00000262738.3	-	1	1840	c.1841delG	c.(1840-1842)ggcfs	p.G615fs	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Frame_Shift_Del_p.G615fs	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	615	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCGCTGCCGCCCCCCAGAAA	0.657																																																	0													24	26	25					22																	46931227		2203	4296	6499	SO:0001589	frameshift_variant	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.1841delG	22.37:g.46931227delC	ENSP00000262738:p.Gly615fs		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G614fs	ENST00000262738.3	37	c.1841	CCDS14076.1	22																																																																																			CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000075275		0.657	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0	26	0	C	NM_014246		46931227	-1	tier1		no_errors	ENST00000262738	ensembl	human	known	74_37	frame_shift_del	39.76	50	33	DEL	0.000	-	-	46931227	C	-	46931227	7	5	52	1	0	1	0	1	0	0	0	0	3228	739	26	0	7343	0	CELSR1	22	46931227	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	275897	46931227	4373339	860	13200											
GRAMD4	23151	genome.wustl.edu	37	chr22	47062721	47062721	+	Splice_Site	DEL	G	G	-																															tgtgtgttttctgttcgccaGggggtggcggatacagtgga																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:47062721delG	ENST00000406902.1	+	10	1022		c.e10-1		GRAMD4_ENST00000361034.3_Splice_Site			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4						apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CTGTTCGCCAGGGGGTGGCGG	0.627																																																	0													227	198	208					22																	47062721		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.810-1G>-	22.37:g.47062721delG			A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Splice_Site	DEL	-	e9-1	ENST00000406902.1	37	c.810-1	CCDS33672.1	22																																																																																			GRAMD4	-	-	ENSG00000075240		0.627	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1		0	32	0	G	NM_015124	Intron	47062721	1	tier1		no_errors	ENST00000361034	ensembl	human	known	74_37	splice_site_del	23.44	49	15	DEL	1.000	-	-	47062721	G	-	47062721	8	5	52	1	0	1	0	1	0	0	1	0	6779	1014	35	0	843	0	GRAMD4	22	47062721	Splice_Site	DEL	G	TCGA-L5-A43J-01A-12D-A247-09	131494	47062721	4241845	861	13201											
ZBED4	9889	genome.wustl.edu	37	chr22	50278015	50278017	+	In_Frame_Del	DEL	CTC	CTC	-																															gtagtttcttctgaagaaatCtcctctgacatgtccgtttc																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:50278015_50278017delCTC	ENST00000216268.5	+	2	1182_1184	c.705_707delCTC	c.(703-708)atctcc>atc	p.S237del		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	237						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGAAGAAATCTCCTCTGACATG	0.527																																																	0																																										SO:0001651	inframe_deletion	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.705_707delCTC	22.37:g.50278018_50278020delCTC	ENSP00000216268:p.Ser237del		B2RZH1|Q1ECU0|Q9UGG8	In_Frame_Del	DEL	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S237in_frame_del	ENST00000216268.5	37	c.705_707	CCDS33677.1	22																																																																																			ZBED4	-	NULL	ENSG00000100426		0.527	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0	18	0	CTC	NM_014838		50278017	1	tier1		no_errors	ENST00000216268	ensembl	human	known	74_37	in_frame_del	10.77	58	7	DEL	0.000:0.167:0.230	-	-	50278017	CTC	-	50278015	7	5	52	1	0	1	0	1	0	0	0	0	17568	903	32	0	707	0	ZBED4	22	50278015	In_Frame_Del	DEL	CTC	TCGA-L5-A43J-01A-12D-A247-09	3215294	50278015	1026551	862	13202											
TUBGCP6	85378	genome.wustl.edu	37	chr22	50656444	50656444	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgcgggcccccagggggCccccaggcctgggagatgag	5	2	17	17	2	0	2	0	1	0	1	0	3	0	2	7	5	0	0	7	5	0	0			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chr22:50656444C>G	ENST00000248846.5	-	24	5375	c.5271G>C	c.(5269-5271)ggG>ggC	p.G1757G	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1757					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCCCAGGGGGCCCCCAGGCCT	0.612																																																	0													27	38	34					22																	50656444		2164	4220	6384	SO:0001819	synonymous_variant	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5271G>C	22.37:g.50656444C>G			Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	pfam_TUBGCP	p.G1757	ENST00000248846.5	37	c.5271	CCDS14087.1	22																																																																																			TUBGCP6	-	NULL	ENSG00000128159		0.612	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3		0	37	0	C	NM_020461		50656444	-1			no_errors	ENST00000248846	ensembl	human	known	74_37	silent	7.41	33	4	SNP	0.000	G	G	50656444	C	G	50656444	2	3	52	1	0	0	0	0	0	0	0	1	16819	726	26	5		5	TUBGCP6	22	50656444	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	378429	50656444	648122	863	13203											
HCCS	3052	genome.wustl.edu	37	chrX	11135400	11135400	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttagatgccaccaccaaAtcaaacaccagctccagatc	15	8	4	14	0	1	2	1	0	0	2	3	2	2	2	5	0	3	1	5	0	4	3			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:11135400A>T	ENST00000321143.4	+	4	468	c.266A>T	c.(265-267)aAt>aTt	p.N89I	HCCS_ENST00000380763.3_Missense_Mutation_p.N89I|HCCS_ENST00000380762.4_Missense_Mutation_p.N89I|Y_RNA_ENST00000384422.1_RNA	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	89					organ morphogenesis (GO:0009887)|oxidation-reduction process (GO:0055114)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	holocytochrome-c synthase activity (GO:0004408)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)	7						CCACCACCAAATCAAACACCA	0.378																																					Ovarian(86;1338 1347 1462 10340 37882)												0													130	123	126					X																	11135400		2203	4300	6503	SO:0001583	missense	0				CCDS14139.1	Xp22	2014-01-31	2010-05-11		ENSG00000004961	ENSG00000004961	4.4.1.17		4837	protein-coding gene	gene with protein product	"cytochrome c heme-lyase"	300056	"holocytochrome c synthase (cytochrome c heme-lyase)", "microphthalamia with linear skin defects"	MLS		8364577, 12444108	Standard	NM_001122608		Approved	CCHL	uc004cuj.3	P53701	OTTHUMG00000021128	ENST00000321143.4:c.266A>T	X.37:g.11135400A>T	ENSP00000326579:p.Asn89Ile		B3KUS1|Q502X8	Missense_Mutation	SNP	pfam_Cyt_C/C1_haem_lyase	p.N89I	ENST00000321143.4	37	c.266	CCDS14139.1	X	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218306	0.79464	.	.	ENSG00000004961	ENST00000321143;ENST00000380763;ENST00000380762	D;D;D	0.83163	-1.69;-1.69;-1.69	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92146	0.7510	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93285	0.6663	10	0.66056	D	0.02	-30.3699	12.7073	0.57067	1.0:0.0:0.0:0.0	.	89	P53701	CCHL_HUMAN	I	89	ENSP00000326579:N89I;ENSP00000370140:N89I;ENSP00000370139:N89I	ENSP00000326579:N89I	N	+	2	0	HCCS	11045321	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	8.739000	0.91574	1.908000	0.55244	0.486000	0.48141	AAT	HCCS	-	pfam_Cyt_C/C1_haem_lyase	ENSG00000004961		0.378	HCCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCCS	HGNC	protein_coding	OTTHUMT00000055742.1	-	0	25	0	A			11135400	1	tier1	-	no_errors	ENST00000321143	ensembl	human	known	74_37	missense	70.83	7	17	SNP	1.000	T	T	11135400	A	T	11135400	3	4	52	1	0	0	0	0	1	0	0	0	7017	101	4	5	276	5	HCCS	23	11135400	Missense_Mutation	SNP	A	TCGA-L5-A43J-01A-12D-A247-09		11135400	144135160	864	13204											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27765039	27765039	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaagaaggcagcacagaCggcttaccagacttagggac	14	4	11	12	1	0	3	0	0	0	3	0	4	0	4	2	3	2	3	2	3	4	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:27765039C>T	ENST00000451261.2	+	5	426	c.27C>T	c.(25-27)gaC>gaT	p.D9D		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	9										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GCAGCACAGACGGCTTACCAG	0.547																																																	0													54	40	44					X																	27765039		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.27C>T	X.37:g.27765039C>T			B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D9	ENST00000451261.2	37	c.27	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL	ENSG00000189186		0.547	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	-	0	10	0	C	XM_293354		27765039	1	tier1	-	no_errors	ENST00000451261	ensembl	human	known	74_37	silent	88.89	2	16	SNP	0.000	T	T	27765039	C	T	27765039	2	4	52	1	0	0	0	0	0	0	0	1	4287	535	19	1		1	DCAF8L2	23	27765039	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	16629639	27765039	127505521	865	13205											
MAOB	4129	genome.wustl.edu	37	chrX	43741511	43741511	+	Frame_Shift_Del	DEL	C	C	-																															gcgactaacctgagatgccgCcccccaccacgaccacgtcg																										TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:43741511delC	ENST00000378069.4	-	1	182	c.35delG	c.(34-36)ggcfs	p.G13fs	MAOB_ENST00000536181.1_5'UTR|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	13					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TGAGATGCCGCCCCCCACCAC	0.701																																																	0													62	45	51					X																	43741511		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.35delG	X.37:g.43741511delC	ENSP00000367309:p.Gly13fs		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Frame_Shift_Del	DEL	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.G12fs	ENST00000378069.4	37	c.35	CCDS14261.1	X																																																																																			MAOB	-	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	ENSG00000069535		0.701	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1		0	25	0	C	NM_000898		43741511	-1	tier1		no_errors	ENST00000378069	ensembl	human	known	74_37	frame_shift_del	72.41	8	21	DEL	1.000	-	-	43741511	C	-	43741511	7	5	52	1	0	1	0	1	0	0	0	0	9264	739	26	0	1587	0	MAOB	23	43741511	Frame_Shift_Del	DEL	C	TCGA-L5-A43J-01A-12D-A247-09	15976472	43741511	111529049	866	13206											
CXorf36	79742	genome.wustl.edu	37	chrX	45051221	45051221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggataagaaagcaaggaatcGggaggcagtccaaggtggga	15	4	17	5	1	0	1	0	0	0	1	2	5	1	5	1	6	1	2	1	6	5	1	rs141296501	byFrequency	TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:45051221G>A	ENST00000398000.2	-	2	347	c.273C>T	c.(271-273)ccC>ccT	p.P91P	CXorf36_ENST00000377934.4_Silent_p.P91P|CXorf36_ENST00000477281.1_5'Flank|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	91						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GCAAGGAATCGGGAGGCAGTC	0.498																																																	0								G	,	0,3835		0,0,0,1632,571	62	61	62		273,273	-9.3	0	X	dbSNP_134	62	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous	CXorf36	NM_024689.2,NM_176819.3	,	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	,	91/183,91/434	45051221	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.273C>T	X.37:g.45051221G>A			A8MUU5|B2RPN7|Q6UWJ5	Silent	SNP	NULL	p.P91	ENST00000398000.2	37	c.273	CCDS48096.1	X																																																																																			CXorf36	-	NULL	ENSG00000147113		0.498	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	-	0	29	0	G	NM_024689		45051221	-1	tier1	rs141296501	no_errors	ENST00000398000	ensembl	human	known	74_37	silent	71.43	10	25	SNP	0.001	A	A	45051221	G	A	45051221	2	1	52	1	0	0	0	0	0	0	0	1	4115	1103	39	1		1	CXorf36	23	45051221	Silent	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1309710	45051221	110219339	867	13207											
ZNF41	7592	genome.wustl.edu	37	chrX	47307383	47307383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggattctctgatgcaCgcttagtgttgatttctgga	7	17	11	6	1	2	2	0	2	2	0	3	4	2	4	0	2	1	4	0	2	2	5	rs555581955		TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:47307383C>T	ENST00000377065.4	-	5	2425	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	ZNF41_ENST00000465311.1_5'Flank|ZNF41_ENST00000397050.2_Missense_Mutation_p.V606M|ZNF41_ENST00000313116.7_Missense_Mutation_p.V596M	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	638					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V596M(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CTCTGATGCACGCTTAGTGTT	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											92	71	78					X																	47307383		2203	4300	6503	SO:0001583	missense	0			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"Zinc fingers, C2H2-type", "-"	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.1786G>A	X.37:g.47307383C>T	ENSP00000366265:p.Val596Met		A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V606M	ENST00000377065.4	37	c.1816	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	C	6.154	0.396537	0.11638	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050	T;T;T	0.18338	2.22;2.22;2.22	3.98	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32147	N	0.006510	T	0.08626	0.0214	N	0.25201	0.72	0.09310	N	1	P;P;B;P;P	0.47910	0.741;0.741;0.223;0.88;0.902	B;B;B;B;B	0.37239	0.112;0.112;0.014;0.157;0.244	T	0.24154	-1.0168	10	0.66056	D	0.02	.	4.3239	0.11031	0.2226:0.6575:0.0:0.1199	.	596;598;606;630;638	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	M	596;596;606	ENSP00000315173:V596M;ENSP00000366265:V596M;ENSP00000380243:V606M	ENSP00000315173:V596M	V	-	1	0	ZNF41	47192327	0.000000	0.05858	0.206000	0.23566	0.958000	0.62258	-0.956000	0.03865	1.042000	0.40150	0.600000	0.82982	GTG	ZNF41	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147124		0.453	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	-	0	19	0	C	NM_153380		47307383	-1	tier1	-	no_errors	ENST00000397050	ensembl	human	known	74_37	missense	66.67	7	14	SNP	0.000	T	T	47307383	C	T	47307383	3	4	52	1	0	0	0	0	1	0	0	0	17937	536	19	1	557	1	ZNF41	23	47307383	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2256162	47307383	107963177	868	13208											
FOXP3	50943	genome.wustl.edu	37	chrX	49108166	49108166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagaaggcaaacatgcGtgtgaaccagtggtagatct	13	9	12	7	1	2	4	0	2	2	2	2	4	2	4	1	2	3	2	1	2	5	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:49108166G>A	ENST00000376207.4	-	11	1292	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FOXP3_ENST00000376197.1_Missense_Mutation_p.R319C|FOXP3_ENST00000455775.2_Missense_Mutation_p.R342C|FOXP3_ENST00000557224.1_Missense_Mutation_p.R334C|FOXP3_ENST00000518685.1_Missense_Mutation_p.R334C|FOXP3_ENST00000376199.2_Missense_Mutation_p.R334C	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	369					B cell homeostasis (GO:0001782)|CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|chromatin remodeling (GO:0006338)|cytokine production (GO:0001816)|myeloid cell homeostasis (GO:0002262)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chronic inflammatory response (GO:0002677)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of immune response (GO:0050777)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of histone acetylation (GO:0035066)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of peripheral T cell tolerance induction (GO:0002851)|positive regulation of T cell anergy (GO:0002669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell activation (GO:0042110)|T cell homeostasis (GO:0043029)|T cell mediated immunity (GO:0002456)|T cell receptor signaling pathway (GO:0050852)|tolerance induction to self antigen (GO:0002513)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|NFAT protein binding (GO:0051525)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					GCAAACATGCGTGTGAACCAG	0.572																																					GBM(182;1432 2112 16160 23073 31774)												0													111	74	87					X																	49108166		2202	4300	6502	SO:0001583	missense	0				CCDS14323.1, CCDS48109.1	Xp11.23	2014-09-17		2002-09-20	ENSG00000049768	ENSG00000049768		"Forkhead boxes"	6106	protein-coding gene	gene with protein product		300292	"immune dysregulation, polyendocrinopathy, enteropathy, X-linked"	IPEX		10677306, 11138001	Standard	NM_014009		Approved	JM2, XPID, AIID, PIDX, DIETER, SCURFIN	uc004dnf.4	Q9BZS1	OTTHUMG00000024135	ENST00000376207.4:c.1105C>T	X.37:g.49108166G>A	ENSP00000365380:p.Arg369Cys		A5HJT1|B7ZLG0|B9UN80|O60827|Q14DD8|Q4ZH51	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R369C	ENST00000376207.4	37	c.1105	CCDS14323.1	X	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255367	0.59321	.	.	ENSG00000049768	ENST00000376207;ENST00000376199;ENST00000557224;ENST00000518685;ENST00000376197;ENST00000455775	D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.36	3.42	0.39159	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.745924	0.11617	N	0.546148	D	0.97433	0.9160	M	0.85373	2.75	0.51482	D	0.999921	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.987;0.992;0.985;0.987;0.978	D	0.96308	0.9226	10	0.87932	D	0	.	8.7929	0.34861	0.0:0.0:0.5449:0.455	.	342;392;334;369;334	B9UN80;B7ZLG1;Q9BZS1-3;Q9BZS1;Q9BZS1-2	.;.;.;FOXP3_HUMAN;.	C	369;334;334;334;319;342	ENSP00000365380:R369C;ENSP00000365372:R334C;ENSP00000451208:R334C;ENSP00000428952:R334C;ENSP00000365369:R319C;ENSP00000396415:R342C	ENSP00000365369:R319C	R	-	1	0	FOXP3	48995110	0.359000	0.24955	1.000000	0.80357	0.925000	0.55904	1.446000	0.35090	1.756000	0.51951	0.287000	0.19450	CGC	FOXP3	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000049768		0.572	FOXP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXP3	HGNC	protein_coding	OTTHUMT00000060814.1	-	0	22	0	G	NM_014009		49108166	-1	tier1	-	no_errors	ENST00000376207	ensembl	human	known	74_37	missense	79.41	7	27	SNP	0.890	A	A	49108166	G	A	49108166	3	1	52	1	0	0	0	0	1	0	0	0	6052	1145	40	1	198	1	FOXP3	23	49108166	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	1800783	49108166	106162394	869	13209											
MAGED1	9500	genome.wustl.edu	37	chrX	51639754	51639754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaccagcctggcagaacCcagtcgcttggcagaaccca	10	4	9	18	1	0	2	0	0	0	2	1	2	0	2	6	2	3	3	6	2	2	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:51639754C>T	ENST00000375722.1	+	4	1255	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	MAGED1_ENST00000375772.3_Missense_Mutation_p.P335S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.P391S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P335S			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	335	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGGCAGAACCCAGTCGCTTG	0.607										Multiple Myeloma(10;0.10)																																							0													63	59	61					X																	51639754		2203	4300	6503	SO:0001583	missense	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1003C>T	X.37:g.51639754C>T	ENSP00000364874:p.Pro335Ser		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P391S	ENST00000375722.1	37	c.1171	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528819	0.27387	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	3.67	3.67	0.42095	.	0.241909	0.21672	N	0.070850	T	0.34395	0.0896	L	0.38175	1.15	0.27805	N	0.94236	P;P	0.37731	0.607;0.473	B;B	0.38712	0.28;0.145	T	0.19224	-1.0312	10	0.06099	T	0.92	.	12.7603	0.57361	0.0:1.0:0.0:0.0	.	391;335	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	335;335;335;391	ENSP00000364927:P335S;ENSP00000364874:P335S;ENSP00000325333:P335S;ENSP00000364847:P391S	ENSP00000325333:P335S	P	+	1	0	MAGED1	51656494	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	2.502000	0.45398	1.779000	0.52309	0.284000	0.19432	CCA	MAGED1	-	NULL	ENSG00000179222		0.607	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	-	0	35	0	C	NM_001005332		51639754	1	tier1	-	no_errors	ENST00000375695	ensembl	human	known	74_37	missense	73.21	15	41	SNP	0.934	T	T	51639754	C	T	51639754	3	4	52	1	0	0	0	0	1	0	0	0	9221	623	22	3	1185	3	MAGED1	23	51639754	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2531588	51639754	103630806	870	13210											
HUWE1	10075	genome.wustl.edu	37	chrX	53576405	53576405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagagacaagaaagggcttCgtggtccagaaggagccgtc	13	5	14	9	2	0	3	0	0	0	3	3	5	1	4	2	3	1	1	2	3	4	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:53576405C>T	ENST00000342160.3	-	66	10007	c.9550G>A	c.(9550-9552)Gaa>Aaa	p.E3184K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E3184K|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3184					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAAGGGCTTCGTGGTCCAGA	0.502																																																	0													46	47	47					X																	53576405		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9550G>A	X.37:g.53576405C>T	ENSP00000340648:p.Glu3184Lys		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E3184K	ENST00000342160.3	37	c.9550	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.59|18.59	3.656566|3.656566	0.67586|0.67586	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.48522|.	0.81;0.81|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.193573|.	0.42682|.	D|.	0.000671|.	T|T	0.73938|0.73938	0.3651|0.3651	M|M	0.68317|0.68317	2.08|2.08	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.65815|.	0.992;0.995|.	P;D|.	0.68192|.	0.905;0.956|.	T|T	0.73040|0.73040	-0.4108|-0.4108	10|5	0.54805|.	T|.	0.06|.	.|.	17.3491|17.3491	0.87318|0.87318	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3184;3168|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|Q	3184|2217;21	ENSP00000340648:E3184K;ENSP00000262854:E3184K|.	ENSP00000262854:E3184K|.	E|R	-|-	1|2	0|0	HUWE1|HUWE1	53593130|53593130	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.961000|0.961000	0.63080|0.63080	6.816000|6.816000	0.75247|0.75247	2.363000|2.363000	0.80096|0.80096	0.600000|0.600000	0.82982|0.82982	GAA|CGA	HUWE1	-	NULL	ENSG00000086758		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	19	0	C	XM_497119		53576405	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	T	T	53576405	C	T	53576405	3	4	52	1	0	0	0	0	1	0	0	0	7488	893	31	1	3646	1	HUWE1	23	53576405	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	1936651	53576405	101694155	871	13211											
FAAH2	158584	genome.wustl.edu	37	chrX	57318978	57318978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatcaacagaatcaaggaCgtgaacccaatgatcaatgg	17	8	8	8	1	3	3	3	2	0	1	3	4	3	4	1	2	2	0	1	2	8	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:57318978C>T	ENST00000374900.4	+	2	360	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	80						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.D80D(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GAATCAAGGACGTGAACCCAA	0.373										HNSCC(52;0.14)																																							1	Substitution - coding silent(1)	lung(1)											177	158	164					X																	57318978		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.240C>T	X.37:g.57318978C>T			Q86VT2|Q96N98	Silent	SNP	pfam_Amidase,superfamily_Amidase_dom	p.D80	ENST00000374900.4	37	c.240	CCDS14375.1	X																																																																																			FAAH2	-	pfam_Amidase,superfamily_Amidase_dom	ENSG00000165591		0.373	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	-	0	14	0	C	NM_174912		57318978	1	tier1	-	no_errors	ENST00000374900	ensembl	human	known	74_37	silent	77.27	5	17	SNP	0.972	T	T	57318978	C	T	57318978	2	4	52	1	0	0	0	0	0	0	0	1	5373	535	19	1		1	FAAH2	23	57318978	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	3742573	57318978	97951582	872	13212											
IL2RG	3561	genome.wustl.edu	37	chrX	70330527	70330527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggactttatcattatccGagttcttgtacctagaggag	9	15	9	8	1	3	1	1	0	2	1	4	4	4	3	2	2	1	2	2	2	4	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:70330527G>A	ENST00000374202.2	-	3	372	c.281C>T	c.(280-282)tCg>tTg	p.S94L	IL2RG_ENST00000456850.2_Intron|IL2RG_ENST00000374188.3_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	94					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	ATCATTATCCGAGTTCTTGTA	0.468									Severe Combined Immunodeficiency, X-linked																																								0													65	57	60					X																	70330527		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6010	protein-coding gene	gene with protein product		308380	"severe combined immunodeficiency", "combined immunodeficiency, X-linked"	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.281C>T	X.37:g.70330527G>A	ENSP00000363318:p.Ser94Leu		Q5FC12	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S94L	ENST00000374202.2	37	c.281	CCDS14406.1	X	.	.	.	.	.	.	.	.	.	.	G	0.830	-0.745513	0.03065	.	.	ENSG00000147168	ENST00000374202;ENST00000374191;ENST00000464642;ENST00000487883;ENST00000473378	D;D;D;D	0.95980	-3.87;-3.87;-1.53;-1.53	4.86	0.403	0.16350	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.651720	0.03233	N	0.179213	D	0.89795	0.6818	L	0.45581	1.43	0.09310	N	1	D	0.54047	0.964	B	0.32724	0.151	T	0.81867	-0.0735	10	0.16896	T	0.51	-14.136	4.4057	0.11407	0.3314:0.1603:0.5083:0.0	.	94	P31785	IL2RG_HUMAN	L	94;94;50;82;73	ENSP00000363318:S94L;ENSP00000425233:S50L;ENSP00000423966:S82L;ENSP00000423601:S73L	ENSP00000363306:S94L	S	-	2	0	IL2RG	70247252	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.795000	0.26972	0.022000	0.15160	-0.380000	0.06706	TCG	IL2RG	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000147168		0.468	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	HGNC	protein_coding	OTTHUMT00000057102.2	-	0	22	0	G			70330527	-1	tier1	-	no_errors	ENST00000374202	ensembl	human	known	74_37	missense	68.00	8	17	SNP	0.000	A	A	70330527	G	A	70330527	3	1	52	1	0	0	0	0	1	0	0	0	7715	1059	37	1	852	1	IL2RG	23	70330527	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	13011549	70330527	84940033	873	13213											
BRWD3	254065	genome.wustl.edu	37	chrX	79932174	79932174	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttacgcactctgcctgaTctggatgtaccaagattcag	10	13	8	10	1	3	2	1	1	2	1	3	3	3	3	2	1	3	2	2	1	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:79932174T>C	ENST00000373275.4	-	41	5559	c.5343A>G	c.(5341-5343)agA>agG	p.R1781R	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1781					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCTGCCTGATCTGGATGTAC	0.353																																																	0													67	57	61					X																	79932174		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.5343A>G	X.37:g.79932174T>C			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1781	ENST00000373275.4	37	c.5343	CCDS14447.1	X																																																																																			BRWD3	-	NULL	ENSG00000165288		0.353	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0	12	0	T	NM_153252		79932174	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	silent	70.00	9	21	SNP	1.000	C	C	79932174	T	C	79932174	2	2	52	1	0	0	0	0	0	0	0	1	1530	1432	50	4		4	BRWD3	23	79932174	Silent	SNP	T	TCGA-L5-A43J-01A-12D-A247-09	9601647	79932174	75338386	874	13214											
POU3F4	5456	genome.wustl.edu	37	chrX	82763400	82763400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagtccatgcggactctgCgggcatgcagcaggggagtc	7	7	15	12	2	1	0	0	0	1	0	3	2	2	2	2	4	4	3	2	4	1	1			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:82763400C>T	ENST00000373200.2	+	1	132	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGGACTCTGCGGGCATGCAG	0.557																																																	0													60	44	49					X																	82763400		2203	4300	6503	SO:0001583	missense	0			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"Homeoboxes / POU class"	9217	protein-coding gene	gene with protein product	"brain-4"	300039	"POU domain class 3, transcription factor 4"	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.68C>T	X.37:g.82763400C>T	ENSP00000362296:p.Ala23Val		B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A23V	ENST00000373200.2	37	c.68	CCDS14450.1	X	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507926	0.27036	.	.	ENSG00000196767	ENST00000373200	D	0.85339	-1.97	4.46	2.68	0.31781	.	0.780519	0.12106	N	0.499023	T	0.77512	0.4141	L	0.43152	1.355	0.30531	N	0.767442	B	0.30439	0.279	B	0.17979	0.02	T	0.71434	-0.4594	10	0.56958	D	0.05	.	8.8464	0.35172	0.0:0.8059:0.0:0.1941	.	23	P49335	PO3F4_HUMAN	V	23	ENSP00000362296:A23V	ENSP00000362296:A23V	A	+	2	0	POU3F4	82650056	1.000000	0.71417	0.784000	0.31847	0.815000	0.46073	2.100000	0.41777	0.441000	0.26529	-0.196000	0.12772	GCG	POU3F4	-	pirsf_Transcription_factor_POU	ENSG00000196767		0.557	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F4	HGNC	protein_coding	OTTHUMT00000057368.2	-	0	22	0	C	NM_000307		82763400	1	tier1	-	no_errors	ENST00000373200	ensembl	human	known	74_37	missense	51.06	23	24	SNP	0.998	T	T	82763400	C	T	82763400	3	4	52	1	0	0	0	0	1	0	0	0	12316	768	27	1	70	1	POU3F4	23	82763400	Missense_Mutation	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	2831226	82763400	72507160	875	13215											
PCDH11X	27328	genome.wustl.edu	37	chrX	91091004	91091004	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggctgttgatcctgaCgtaggaataaacggagttca	11	9	12	9	3	1	2	1	2	0	0	2	4	2	4	2	3	2	4	2	3	4	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:91091004C>T	ENST00000373094.1	+	1	1346	c.501C>T	c.(499-501)gaC>gaT	p.D167D	PCDH11X_ENST00000504220.2_Silent_p.D167D|PCDH11X_ENST00000373097.1_Silent_p.D167D|PCDH11X_ENST00000361655.2_Silent_p.D167D|PCDH11X_ENST00000395337.2_Silent_p.D167D|PCDH11X_ENST00000373088.1_Silent_p.D167D|PCDH11X_ENST00000361724.1_Silent_p.D167D|PCDH11X_ENST00000406881.1_Silent_p.D167D|PCDH11X_ENST00000298274.8_Silent_p.D167D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	167	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGATCCTGACGTAGGAATAA	0.338																																					NSCLC(38;925 1092 2571 38200 45895)												0													44	45	44					X																	91091004		2201	4298	6499	SO:0001819	synonymous_variant	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.501C>T	X.37:g.91091004C>T			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D167	ENST00000373094.1	37	c.501	CCDS14461.1	X																																																																																			PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000102290		0.338	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	38	0	C	NM_032969		91091004	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	silent	80.00	9	36	SNP	0.250	T	T	91091004	C	T	91091004	2	4	52	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDH11X	23	91091004	Silent	SNP	C	TCGA-L5-A43J-01A-12D-A247-09	8327604	91091004	64179556	876	13216											
ENOX2	10495	genome.wustl.edu	37	chrX	129804065	129804065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctctctggctagcatacGctgtttacactcccactcat	7	13	5	16	1	2	0	1	0	1	0	5	0	4	0	2	1	3	4	2	1	3	4			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:129804065G>A	ENST00000370927.1	-	5	676	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	ENOX2_ENST00000370935.1_Missense_Mutation_p.R190C|ENOX2_ENST00000394363.1_Missense_Mutation_p.R190C|ENOX2_ENST00000338144.3_Missense_Mutation_p.R219C			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	219					cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCTAGCATACGCTGTTTACAC	0.512																																					Ovarian(101;828 1506 2951 9500 35258)												0													187	139	155					X																	129804065		2203	4300	6503	SO:0001583	missense	0			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.655C>T	X.37:g.129804065G>A	ENSP00000359965:p.Arg219Cys		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R219C	ENST00000370927.1	37	c.655	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267189	0.80469	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.75910	0.3914	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.76924	-0.2779	8	.	.	.	-10.4316	10.0382	0.42142	0.0:0.0:0.7997:0.2003	.	219;247	Q16206;A4QPE1	ENOX2_HUMAN;.	C	190;190;219;190;247;219;190	.	.	R	-	1	0	ENOX2	129631746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.993000	0.56987	2.407000	0.81776	0.600000	0.82982	CGT	ENOX2	-	NULL	ENSG00000165675		0.512	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	-	0	30	0	G	NM_182314		129804065	-1	tier1	-	no_errors	ENST00000338144	ensembl	human	known	74_37	missense	76.60	21	72	SNP	1.000	A	A	129804065	G	A	129804065	3	1	52	1	0	0	0	0	1	0	0	0	5143	1087	38	1	1213	1	ENOX2	23	129804065	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	38713061	129804065	25466495	877	13217											
SLITRK4	139065	genome.wustl.edu	37	chrX	142717789	142717789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgacgtgcagcttcttcGcatttaaaggtttcggtatc	8	15	9	9	3	1	1	0	1	1	0	4	1	1	1	0	2	2	5	0	2	3	7			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:142717789G>A	ENST00000381779.4	-	2	1361	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	SLITRK4_ENST00000356928.1_Missense_Mutation_p.A379V|SLITRK4_ENST00000338017.4_Missense_Mutation_p.A379V	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	379						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTTCTTCGCATTTAAAGG	0.418																																																	0													212	171	185					X																	142717789		2203	4300	6503	SO:0001583	missense	0			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1136C>T	X.37:g.142717789G>A	ENSP00000371198:p.Ala379Val		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A379V	ENST00000381779.4	37	c.1136	CCDS14679.1	X	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692867	0.68271	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.49720	0.77;0.77;0.77	5.38	5.38	0.77491	Leucine-rich repeat-containing N-terminal (1);	0.057127	0.64402	D	0.000002	T	0.34077	0.0885	L	0.27975	0.815	0.80722	D	1	P	0.42941	0.794	B	0.40741	0.339	T	0.19679	-1.0298	10	0.02654	T	1	-8.2212	16.8528	0.85998	0.0:0.0:1.0:0.0	.	379	Q8IW52	SLIK4_HUMAN	V	379	ENSP00000371198:A379V;ENSP00000349400:A379V;ENSP00000336627:A379V	ENSP00000336627:A379V	A	-	2	0	SLITRK4	142545455	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.384000	0.81235	0.594000	0.82650	GCG	SLITRK4	-	NULL	ENSG00000179542		0.418	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK4	HGNC	protein_coding	OTTHUMT00000058617.1	-	0	31	0	G	NM_173078		142717789	-1	tier1	-	no_errors	ENST00000338017	ensembl	human	known	74_37	missense	80.65	6	25	SNP	1.000	A	A	142717789	G	A	142717789	3	1	52	1	0	0	0	0	1	0	0	0	14790	1087	38	1	1381	1	SLITRK4	23	142717789	Missense_Mutation	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	12913724	142717789	12552771	878	13218											
PLXNB3	5365	genome.wustl.edu	37	chrX	153044130	153044130	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacaggtactatgatcagGtgaggcccagggcactccgg	9	7	13	12	1	1	2	1	2	0	0	3	2	3	2	3	5	1	2	3	5	2	2			TCGA-L5-A43J-01A-12D-A247-09	TCGA-L5-A43J-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	339fc9a4-1aa8-43cc-9228-0f3b9062fa21	f88aa7fe-2469-421c-8fc0-fc46a9b21611	g.chrX:153044130G>A	ENST00000361971.5	+	35	5739		c.e35+1		SRPK3_ENST00000489426.1_Splice_Site|PLXNB3_ENST00000538966.1_Splice_Site|SRPK3_ENST00000370108.3_5'Flank|SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000370100.1_5'Flank|SRPK3_ENST00000370104.1_5'Flank|PLXNB3_ENST00000538776.1_Splice_Site|SRPK3_ENST00000393786.3_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATGATCAGGTGAGGCCCAG	0.672																																																	0													55	45	48					X																	153044130		2198	4295	6493	SO:0001630	splice_region_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5625+1G>A	X.37:g.153044130G>A			B7Z3E6|F5H773|Q9HDA4	Splice_Site	SNP	-	e34+1	ENST00000361971.5	37	c.5694+1	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440429	0.43326	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776	.	.	.	4.09	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5712	0.68213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNB3	152697324	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	9.422000	0.97458	2.024000	0.59613	0.517000	0.50305	.	PLXNB3	-	-	ENSG00000198753		0.672	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-	0	18	0	G		Intron	153044130	1	tier1	-	no_errors	ENST00000538966	ensembl	human	known	74_37	splice_site	82.14	5	23	SNP	1.000	A	A	153044130	G	A	153044130	5	1	52	1	0	0	0	0	0	0	1	0	12164	1275	44	3	5878	3	PLXNB3	23	153044130	Splice_Site	SNP	G	TCGA-L5-A43J-01A-12D-A247-09	10326341	153044130	2226430	879	13219											
SPATA6	54558	genome.wustl.edu	37	chr1	48850999	48850999	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accttataatccttgggtcgGcagcagccaagatgagaatg	12	9	11	9	1	0	2	0	1	0	2	2	3	1	2	3	2	2	2	3	2	4	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:48850999G>T	ENST00000371847.3	-	9	1055	c.891C>A	c.(889-891)tgC>tgA	p.C297*	SPATA6_ENST00000371843.3_Nonsense_Mutation_p.C297*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.C225*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	297					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCTTGGGTCGGCAGCAGCCAA	0.303																																																	0													76	75	75					1																	48850999		2203	4296	6499	SO:0001587	stop_gained	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.891C>A	1.37:g.48850999G>T	ENSP00000360913:p.Cys297*		Q5T3N7|Q8WUE6	Nonsense_Mutation	SNP	NULL	p.C297*	ENST00000371847.3	37	c.891	CCDS551.1	1	.	.	.	.	.	.	.	.	.	.	G	38	7.055990	0.98032	.	.	ENSG00000132122	ENST00000371847;ENST00000371843;ENST00000396199;ENST00000371841	.	.	.	5.09	2.21	0.28008	.	0.738703	0.13498	N	0.383479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	6.9389	0.24483	0.2821:0.0:0.7179:0.0	.	.	.	.	X	297;297;225;138	.	ENSP00000360907:C138X	C	-	3	2	SPATA6	48623586	0.427000	0.25514	0.240000	0.24138	0.910000	0.53928	1.801000	0.38843	0.418000	0.25898	0.555000	0.69702	TGC	SPATA6	-	NULL	ENSG00000132122		0.303	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1	-	0	75	0	G	NM_019073		48850999	-1	tier1	-	no_errors	ENST00000371847	ensembl	human	known	74_37	nonsense	7.27	50	4	SNP	0.701	T	T	48850999	G	T	48850999	4	4	53	1	0	0	0	0	0	1	0	0	15060	1195	42	3	595	3	SPATA6	1	48850999	Nonsense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		48850999	200399622	1	13220											
MSH4	4438	genome.wustl.edu	37	chr1	76280729	76280729	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaatttcactactatccaAaggaaatacttcaatgaaac	17	12	4	8	0	2	1	2	1	0	0	3	2	3	2	1	1	3	1	1	1	8	6			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:76280729A>G	ENST00000263187.3	+	5	827	c.723A>G	c.(721-723)caA>caG	p.Q241Q		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	241					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTACTATCCAAAGGAAATACT	0.343								Mismatch excision repair (MMR)																																									0													72	75	74					1																	76280729		2203	4296	6499	SO:0001819	synonymous_variant	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.723A>G	1.37:g.76280729A>G			Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.Q241	ENST00000263187.3	37	c.723	CCDS670.1	1																																																																																			MSH4	-	pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom	ENSG00000057468		0.343	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	-	0	62	0	A	NM_002440		76280729	1	tier1	-	no_errors	ENST00000263187	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	G	G	76280729	A	G	76280729	2	3	53	1	0	0	0	0	0	0	0	1	9910	11	1	4		4	MSH4	1	76280729	Silent	SNP	A	TCGA-L5-A43M-01A-11D-A247-09	27429730	76280729	172969892	2	13221											
ADAM30	11085	genome.wustl.edu	37	chr1	120437095	120437095	+	Frame_Shift_Del	DEL	T	T	-																															ggactgagctattgacgcaaTtttttttaaaacatacccgg																										TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:120437095delT	ENST00000369400.1	-	1	2023	c.1865delA	c.(1864-1866)aatfs	p.N622fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	622	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATTGACGCAATTTTTTTTAAA	0.448																																																	0										10,4256		3,4,2126	59	61	61			-3	0	1		61	10,8244		5,0,4122	no	frameshift	ADAM30	NM_021794.3		8,4,6248	A1A1,A1R,RR		0.1212,0.2344,0.1597			120437095	20,12500	2203	4300	6503	SO:0001589	frameshift_variant	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1865delA	1.37:g.120437095delT	ENSP00000358407:p.Asn622fs		A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.N622fs	ENST00000369400.1	37	c.1865	CCDS907.1	1																																																																																			ADAM30	-	smart_ADAM_Cys-rich	ENSG00000134249		0.448	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1		0	51	0	T	NM_021794		120437095	-1	tier1		no_errors	ENST00000369400	ensembl	human	known	74_37	frame_shift_del	12.00	22	3	DEL	0.000	-	-	120437095	T	-	120437095	7	5	53	1	0	1	0	1	0	0	0	0	248	1493	52	0	511	0	ADAM30	1	120437095	Frame_Shift_Del	DEL	T	TCGA-L5-A43M-01A-11D-A247-09	44156366	120437095	128813526	3	13222											
PYHIN1	149628	genome.wustl.edu	37	chr1	158912089	158912089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaaacgtttgaggttcCaaaggacatcatcagaagag	15	8	10	8	1	2	4	2	2	0	2	3	5	3	5	2	2	1	2	2	2	3	2	rs143141886		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:158912089C>A	ENST00000368140.1	+	5	1147	c.902C>A	c.(901-903)cCa>cAa	p.P301Q	PYHIN1_ENST00000392252.3_Missense_Mutation_p.P292Q|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P292Q|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P301Q	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	301	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TTTGAGGTTCCAAAGGACATC	0.353																																																	0													51	52	51					1																	158912089		2203	4300	6503	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.902C>A	1.37:g.158912089C>A	ENSP00000357122:p.Pro301Gln		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.P301Q	ENST00000368140.1	37	c.902	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244955	0.39697	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	2.85	2.85	0.33270	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.55369	0.1916	M	0.78049	2.395	0.23496	N	0.997557	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.997	T	0.38887	-0.9640	9	0.87932	D	0	.	9.2705	0.37668	0.0:1.0:0.0:0.0	.	292;301;292;301	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	Q	301;292;301;292	ENSP00000357122:P301Q;ENSP00000357120:P292Q;ENSP00000376083:P301Q;ENSP00000376082:P292Q	ENSP00000357120:P292Q	P	+	2	0	PYHIN1	157178713	0.002000	0.14202	0.002000	0.10522	0.045000	0.14185	1.620000	0.36976	1.577000	0.49804	0.655000	0.94253	CCA	PYHIN1	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163564		0.353	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1		0	32	0	C	NM_152501		158912089	1			no_errors	ENST00000368140	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.004	A	A	158912089	C	A	158912089	3	1	53	1	0	0	0	0	1	0	0	0	12910	594	21	3	916	3	PYHIN1	1	158912089	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	38474994	158912089	90338532	4	13223											
MGST3	4259	genome.wustl.edu	37	chr1	165619133	165619133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttctaactggtgctGccagctttataatggtggcc	6	15	11	9	0	1	0	0	0	1	0	1	0	1	0	2	3	5	3	2	3	3	6			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:165619133G>T	ENST00000367889.3	+	2	489	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	MGST3_ENST00000367884.2_Missense_Mutation_p.A17S|MGST3_ENST00000367886.2_Missense_Mutation_p.A31S|MGST3_ENST00000367883.1_Missense_Mutation_p.A31S|MGST3_ENST00000367885.1_Missense_Mutation_p.A31S|MGST3_ENST00000367888.4_Missense_Mutation_p.A17S	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	17					glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601)			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	AACTGGTGCTGCCAGCTTTAT	0.517																																																	0													159	142	148					1																	165619133		2203	4300	6503	SO:0001583	missense	0			AF026977	CCDS1249.1	1q23	2012-06-21			ENSG00000143198	ENSG00000143198	2.5.1.18	"Glutathione S-transferases / Microsomal"	7064	protein-coding gene	gene with protein product	"microsomal glutathione S-transferase III", "microsomal GST-3", "microsomal GST-III"	604564				9278457	Standard	NM_004528		Approved	GST-III	uc001gdf.3	O14880	OTTHUMG00000034627	ENST00000367889.3:c.49G>T	1.37:g.165619133G>T	ENSP00000356864:p.Ala17Ser		B2R592|Q6ICN4	Missense_Mutation	SNP	pfam_Membr-assoc_MAPEG	p.A31S	ENST00000367889.3	37	c.91	CCDS1249.1	1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.519852	0.64634	.	.	ENSG00000143198	ENST00000367889;ENST00000367888;ENST00000367885;ENST00000404549;ENST00000367884;ENST00000367883;ENST00000367886	T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.67	5.67	0.87782	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.52823	1.66	0.80722	D	1	P;B	0.38250	0.624;0.201	B;B	0.39465	0.3;0.199	T	0.34800	-0.9814	10	0.16896	T	0.51	-15.7393	17.2648	0.87083	0.0:0.0:1.0:0.0	.	31;17	Q5VV89;O14880	.;MGST3_HUMAN	S	17;17;31;31;17;31;31	ENSP00000356864:A17S;ENSP00000356863:A17S;ENSP00000356860:A31S;ENSP00000384372:A31S;ENSP00000356859:A17S;ENSP00000356858:A31S;ENSP00000356861:A31S	ENSP00000356858:A31S	A	+	1	0	MGST3	163885757	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	8.622000	0.90953	2.676000	0.91093	0.650000	0.86243	GCC	MGST3	-	pfam_Membr-assoc_MAPEG	ENSG00000143198		0.517	MGST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGST3	HGNC	protein_coding	OTTHUMT00000083797.3	-	0	61	0	G	NM_004528		165619133	1	tier1	-	no_errors	ENST00000367886	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	165619133	G	T	165619133	3	4	53	1	0	0	0	0	1	0	0	0	9600	1319	46	3	51	3	MGST3	1	165619133	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	6707044	165619133	83631488	5	13224											
SOAT1	6646	genome.wustl.edu	37	chr1	179308616	179308616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaacaatatatcacatgTttattgccctcctcattctc	11	15	3	12	0	4	1	3	0	1	1	6	1	5	1	2	0	2	1	2	0	5	6			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:179308616T>C	ENST00000367619.3	+	6	576	c.433T>C	c.(433-435)Ttt>Ctt	p.F145L	SOAT1_ENST00000540564.1_Missense_Mutation_p.F87L|SOAT1_ENST00000539888.1_Missense_Mutation_p.F80L|SOAT1_ENST00000535686.1_5'UTR	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	145					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATATCACATGTTTATTGCCCT	0.343																																																	0													193	183	187					1																	179308616		2203	4300	6503	SO:0001583	missense	0			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"acyl-Coenzyme A: cholesterol acyltransferase"	102642	"sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.433T>C	1.37:g.179308616T>C	ENSP00000356591:p.Phe145Leu		A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	pfam_MBOAT_fam	p.F145L	ENST00000367619.3	37	c.433	CCDS1330.1	1	.	.	.	.	.	.	.	.	.	.	T	33	5.206804	0.95033	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.67	5.67	0.87782	.	0.097141	0.64402	D	0.000001	T	0.42585	0.1209	M	0.75777	2.31	0.80722	D	1	D;D	0.67145	0.97;0.996	P;P	0.53401	0.601;0.725	T	0.39583	-0.9607	10	0.51188	T	0.08	-16.4372	13.8621	0.63566	0.0:0.0:0.0:1.0	.	87;145	A8K3P4;P35610	.;SOAT1_HUMAN	L	80;87;145;145	ENSP00000441356:F80L;ENSP00000445315:F87L;ENSP00000356591:F145L;ENSP00000411309:F145L	ENSP00000356591:F145L	F	+	1	0	SOAT1	177575239	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.857000	0.86963	2.141000	0.66446	0.533000	0.62120	TTT	SOAT1	-	NULL	ENSG00000057252		0.343	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT1	HGNC	protein_coding	OTTHUMT00000085286.2	-	0	61	0	T	NM_003101		179308616	1	tier1	-	no_errors	ENST00000367619	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	C	C	179308616	T	C	179308616	3	2	53	1	0	0	0	0	1	0	0	0	14955	1725	60	4	451	4	SOAT1	1	179308616	Missense_Mutation	SNP	T	TCGA-L5-A43M-01A-11D-A247-09	13689483	179308616	69942005	6	13225											
HMCN1	83872	genome.wustl.edu	37	chr1	185950197	185950197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagacaacagtaacagtgaCcggacttggtaagatcaatt	16	8	10	7	1	1	3	1	1	0	2	1	5	1	4	1	2	2	2	1	2	4	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:185950197C>A	ENST00000271588.4	+	17	2883	c.2654C>A	c.(2653-2655)aCc>aAc	p.T885N	HMCN1_ENST00000367492.2_Missense_Mutation_p.T885N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	885					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAACAGTGACCGGACTTGGT	0.378																																																	0													131	133	132					1																	185950197		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2654C>A	1.37:g.185950197C>A	ENSP00000271588:p.Thr885Asn		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.T885N	ENST00000271588.4	37	c.2654	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974231	0.74246	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.30182	1.54;1.54	5.72	5.72	0.89469	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50000	0.1590	L	0.49778	1.585	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.73380	0.921;0.98	T	0.17319	-1.0373	10	0.18710	T	0.47	.	19.869	0.96843	0.0:1.0:0.0:0.0	.	269;885	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	N	885	ENSP00000271588:T885N;ENSP00000356462:T885N	ENSP00000271588:T885N	T	+	2	0	HMCN1	184216820	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	7.294000	0.78760	2.709000	0.92574	0.591000	0.81541	ACC	HMCN1	-	smart_Ig_sub	ENSG00000143341		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	33	0	C	NM_031935		185950197	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	A	A	185950197	C	A	185950197	3	1	53	1	0	0	0	0	1	0	0	0	7247	507	18	3	2720	3	HMCN1	1	185950197	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	6641581	185950197	63300424	7	13226											
FMN2	56776	genome.wustl.edu	37	chr1	240255442	240255442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggaagctgaagaggagCgcaggtgatgctttgcacga	11	7	17	6	2	0	3	0	2	0	1	0	7	0	5	0	3	4	4	0	3	2	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr1:240255442C>A	ENST00000319653.9	+	1	263	c.33C>A	c.(31-33)agC>agA	p.S11R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	11					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.S154R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGAAGAGGAGCGCAGGTGATG	0.701																																																	1	Substitution - Missense(1)	kidney(1)											6	7	7					1																	240255442		2063	4058	6121	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.33C>A	1.37:g.240255442C>A	ENSP00000318884:p.Ser11Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.S11R	ENST00000319653.9	37	c.33	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313517	0.23908	.	.	ENSG00000155816	ENST00000319653	T	0.27402	1.67	3.88	2.95	0.34219	.	0.253757	0.33591	N	0.004741	T	0.19765	0.0475	L	0.51422	1.61	0.80722	D	1	P	0.35844	0.524	B	0.27608	0.081	T	0.08554	-1.0716	10	0.51188	T	0.08	.	2.6227	0.04921	0.2491:0.514:0.0:0.2369	.	11	Q9NZ56	FMN2_HUMAN	R	11	ENSP00000318884:S11R	ENSP00000318884:S11R	S	+	3	2	FMN2	238322065	0.882000	0.30256	1.000000	0.80357	0.910000	0.53928	0.587000	0.23909	0.944000	0.37579	0.313000	0.20887	AGC	FMN2	-	NULL	ENSG00000155816		0.701	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	53	0	C	XM_371352		240255442	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.999	A	A	240255442	C	A	240255442	3	1	53	1	0	0	0	0	1	0	0	0	5972	767	27	2	35	2	FMN2	1	240255442	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	54305245	240255442	8995179	8	13227											
APOB	338	genome.wustl.edu	37	chr2	21231540	21231540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctggtatgtgaaggtcagGaacttgaaaatcattaaggt	13	13	11	4	0	3	2	2	2	1	0	3	3	3	3	0	4	1	1	0	4	6	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:21231540G>T	ENST00000233242.1	-	26	8327	c.8200C>A	c.(8200-8202)Cct>Act	p.P2734T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2734				Missing (in Ref. 15; AAA51758). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.P2734S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGGTCAGGAACTTGAAAA	0.418																																																	1	Substitution - Missense(1)	skin(1)											187	188	188					2																	21231540		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8200C>A	2.37:g.21231540G>T	ENSP00000233242:p.Pro2734Thr		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P2734T	ENST00000233242.1	37	c.8200	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759959	0.31137	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00824	5.65	5.22	2.33	0.28932	.	0.231537	0.30260	N	0.010037	T	0.01029	0.0034	L	0.43152	1.355	0.80722	D	1	B	0.25772	0.134	B	0.23852	0.049	T	0.62671	-0.6805	10	0.36615	T	0.2	.	6.4474	0.21883	0.1529:0.2765:0.5706:0.0	.	2734	P04114	APOB_HUMAN	T	2734	ENSP00000233242:P2734T	ENSP00000233242:P2734T	P	-	1	0	APOB	21085045	1.000000	0.71417	0.838000	0.33150	0.635000	0.38103	0.980000	0.29513	0.173000	0.19788	0.561000	0.74099	CCT	APOB	-	NULL	ENSG00000084674		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	37	0	G			21231540	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.994	T	T	21231540	G	T	21231540	3	4	53	1	0	0	0	0	1	0	0	0	785	1174	41	3	5507	3	APOB	2	21231540	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		21231540	221967833	9	13228											
PDE11A	50940	genome.wustl.edu	37	chr2	178762828	178762828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaacagaacagcgttcaCatttcagcagagtttgggcc	13	9	10	9	1	2	2	2	0	0	2	2	2	2	2	1	1	4	4	1	1	3	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:178762828C>T	ENST00000286063.6	-	4	1576	c.1259G>A	c.(1258-1260)tGt>tAt	p.C420Y	PDE11A_ENST00000449286.2_Missense_Mutation_p.C62Y|PDE11A_ENST00000358450.4_Missense_Mutation_p.C170Y|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Missense_Mutation_p.C62Y	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	420	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ACAGCGTTCACATTTCAGCAG	0.388									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													141	133	136					2																	178762828		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.1259G>A	2.37:g.178762828C>T	ENSP00000286063:p.Cys420Tyr		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.C420Y	ENST00000286063.6	37	c.1259	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.070490|5.070490	0.93950|0.93950	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000286063;ENST00000358450;ENST00000409504;ENST00000431253;ENST00000449286|ENST00000433879	T;T;T;T|.	0.69685|.	-0.42;-0.42;-0.42;-0.42|.	5.89|5.89	5.89|5.89	0.94794|0.94794	GAF (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83681|0.83681	0.5307|0.5307	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.98;0.998|.	D|D	0.83983|0.83983	0.0333|0.0333	10|5	0.87932|.	D|.	0|.	.|.	20.2576|20.2576	0.98430|0.98430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	170;420|.	Q9HCR9-2;Q9HCR9|.	.;PDE11_HUMAN|.	Y|M	420;170;62;95;62|59	ENSP00000286063:C420Y;ENSP00000351232:C170Y;ENSP00000386539:C62Y;ENSP00000390599:C62Y|.	ENSP00000286063:C420Y|.	C|V	-|-	2|1	0|0	PDE11A|PDE11A	178471074|178471074	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.792000|7.792000	0.85828|0.85828	2.783000|2.783000	0.95769|0.95769	0.655000|0.655000	0.94253|0.94253	TGT|GTG	PDE11A	-	pfam_GAF,smart_GAF	ENSG00000128655		0.388	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2	-	0	85	0	C			178762828	-1	tier1	-	no_errors	ENST00000286063	ensembl	human	known	74_37	missense	30.00	49	21	SNP	1.000	T	T	178762828	C	T	178762828	3	4	53	1	0	0	0	0	1	0	0	0	11670	478	17	3	1610	3	PDE11A	2	178762828	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	157531288	178762828	64436545	10	13229											
TTN	7273	genome.wustl.edu	37	chr2	179600781	179600781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggacttaggtctggagaGaaaggttggtggatatgcct	11	10	16	4	0	1	1	0	0	1	1	1	5	1	4	1	6	1	1	1	6	4	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:179600781G>A	ENST00000591111.1	-	48	13665	c.13441C>T	c.(13441-13443)Ctc>Ttc	p.L4481F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L4798F|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L3554F|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12236	Ig-like 25.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCTGGAGAGAAAGGTTGGT	0.423																																																	0													56	54	55					2																	179600781		1895	4122	6017	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13441C>T	2.37:g.179600781G>A	ENSP00000465570:p.Leu4481Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L3554F	ENST00000591111.1	37	c.10660		2	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387588	0.25031	.	.	ENSG00000155657	ENST00000342992	T	0.46819	0.86	5.93	-2.59	0.06209	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49338	0.1551	M	0.79693	2.465	0.80722	D	1	B	0.02656	0.0	B	0.09377	0.004	T	0.53143	-0.8480	9	0.87932	D	0	.	15.3424	0.74309	0.0763:0.1871:0.7366:0.0	.	4481	Q8WZ42	TITIN_HUMAN	F	3554	ENSP00000343764:L3554F	ENSP00000343764:L3554F	L	-	1	0	TTN	179309026	1.000000	0.71417	0.389000	0.26208	0.904000	0.53231	1.105000	0.31086	-0.610000	0.05716	0.655000	0.94253	CTC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	46	0	G	NM_133378		179600781	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.989	A	A	179600781	G	A	179600781	3	1	53	1	0	0	0	0	1	0	0	0	16784	942	33	3	90389	3	TTN	2	179600781	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	837953	179600781	63598592	11	13230											
FAM124B	79843	genome.wustl.edu	37	chr2	225265849	225265849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagaggcactaactggcCgatctcttgaaccttaaact	12	10	8	11	1	1	2	0	1	1	1	2	3	1	2	2	2	4	2	2	2	5	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:225265849C>A	ENST00000409685.3	-	1	902	c.637G>T	c.(637-639)Ggc>Tgc	p.G213C	FAM124B_ENST00000389874.3_Missense_Mutation_p.G213C|FAM124B_ENST00000243806.2_Missense_Mutation_p.G213C	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	213										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ACTAACTGGCCGATCTCTTGA	0.537																																																	0													73	65	68					2																	225265849		2203	4300	6503	SO:0001583	missense	0			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.637G>T	2.37:g.225265849C>A	ENSP00000386895:p.Gly213Cys		A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.G213C	ENST00000409685.3	37	c.637	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934441	0.92458	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.59364	0.27;0.27;0.27	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81953	-0.0697	10	0.87932	D	0	-28.3372	19.7174	0.96129	0.0:1.0:0.0:0.0	.	213;213	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	C	213	ENSP00000374524:G213C;ENSP00000386895:G213C;ENSP00000243806:G213C	ENSP00000243806:G213C	G	-	1	0	FAM124B	224974093	1.000000	0.71417	0.990000	0.47175	0.877000	0.50540	7.487000	0.81328	2.653000	0.90120	0.655000	0.94253	GGC	FAM124B	-	NULL	ENSG00000124019		0.537	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	-	0	45	0	C	NM_024785		225265849	-1	tier1	-	no_errors	ENST00000409685	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	A	A	225265849	C	A	225265849	3	1	53	1	0	0	0	0	1	0	0	0	5445	652	23	2	829	2	FAM124B	2	225265849	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	45665068	225265849	17933524	12	13231											
COPS7B	64708	genome.wustl.edu	37	chr2	232659056	232659056	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtgagcttggcatcaagaAtgaaggtacggtactgagcc	11	9	13	8	2	1	4	1	3	0	1	2	4	1	4	1	3	4	4	1	3	5	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr2:232659056A>T	ENST00000350033.3	+	4	463	c.322A>T	c.(322-324)Atg>Ttg	p.M108L	COPS7B_ENST00000410024.1_Missense_Mutation_p.M108L|COPS7B_ENST00000409091.1_Start_Codon_SNP_p.M1L|COPS7B_ENST00000410017.1_Missense_Mutation_p.M108L|COPS7B_ENST00000409295.1_Missense_Mutation_p.M74L|COPS7B_ENST00000373608.3_Missense_Mutation_p.M108L	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	108	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGCATCAAGAATGAAGGTACG	0.512																																																	0													160	124	136					2																	232659056		2203	4300	6503	SO:0001583	missense	0			AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B", "COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.322A>T	2.37:g.232659056A>T	ENSP00000272995:p.Met108Leu		Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.M108L	ENST00000350033.3	37	c.322	CCDS2488.1	2	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613976	0.46631	.	.	ENSG00000144524	ENST00000410024;ENST00000409295;ENST00000409091;ENST00000350033;ENST00000410017;ENST00000373608;ENST00000537799	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.17	6.17	0.99709	Proteasome component (PCI) domain (2);	0.042949	0.85682	D	0.000000	T	0.24160	0.0585	N	0.21373	0.66	0.50313	D	0.99986	B;B;B	0.13594	0.001;0.004;0.008	B;B;B	0.17433	0.003;0.018;0.012	T	0.04650	-1.0936	10	0.25106	T	0.35	-0.2698	16.8222	0.85835	1.0:0.0:0.0:0.0	.	108;108;108	Q53GQ2;Q9H9Q2-3;Q9H9Q2	.;.;CSN7B_HUMAN	L	108;74;1;108;108;108;1	ENSP00000386567:M108L;ENSP00000386438:M74L;ENSP00000272995:M108L;ENSP00000386880:M108L;ENSP00000362710:M108L	ENSP00000272995:M108L	M	+	1	0	COPS7B	232367300	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.711000	0.74675	2.371000	0.80710	0.533000	0.62120	ATG	COPS7B	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000144524		0.512	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS7B	HGNC	protein_coding	OTTHUMT00000256964.2	-	0	79	0	A	NM_022730		232659056	1	tier1	-	no_errors	ENST00000350033	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	T	T	232659056	A	T	232659056	3	4	53	1	0	0	0	0	1	0	0	0	3746	101	4	5	332	5	COPS7B	2	232659056	Missense_Mutation	SNP	A	TCGA-L5-A43M-01A-11D-A247-09	7393207	232659056	10540317	13	13232											
PLCH1	23007	genome.wustl.edu	37	chr3	155212209	155212209	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggggtaaatcctcgtGagttgcttttgattataaat	11	14	11	5	1	0	3	0	2	0	1	2	3	1	3	1	2	1	4	1	2	5	6			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr3:155212209G>T	ENST00000340059.7	-	15	1955	c.1956C>A	c.(1954-1956)ctC>ctA	p.L652L	PLCH1_ENST00000460012.1_Silent_p.L634L|PLCH1_ENST00000414191.1_Silent_p.L634L|PLCH1_ENST00000447496.2_Silent_p.L652L|PLCH1_ENST00000334686.6_Silent_p.L634L|PLCH1_ENST00000494598.1_Silent_p.L652L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	652	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.L634L(1)|p.L652L(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAATCCTCGTGAGTTGCTTTT	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											169	158	162					3																	155212209		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1956C>A	3.37:g.155212209G>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L652	ENST00000340059.7	37	c.1956	CCDS46939.1	3																																																																																			PLCH1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	ENSG00000114805		0.453	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1		0	58	0	G	NM_014996		155212209	-1			no_errors	ENST00000340059	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.984	T	T	155212209	G	T	155212209	2	4	53	1	0	0	0	0	0	0	0	1	12076	1277	45	3		3	PLCH1	3	155212209	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		155212209	42810221	14	13233											
TADA2B	93624	genome.wustl.edu	37	chr4	7056555	7056555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgccattgagaaccttcCaggcttcgagctcctgtcag	7	9	10	15	3	1	1	1	1	0	1	4	3	3	1	5	1	2	2	5	1	1	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr4:7056555C>T	ENST00000310074.7	+	2	1226	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	TADA2B_ENST00000515646.1_Missense_Mutation_p.P254L|TADA2B_ENST00000512388.1_Missense_Mutation_p.P271L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	346					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGAACCTTCCAGGCTTCGAG	0.512																																																	0													66	73	70					4																	7056555		1961	4148	6109	SO:0001583	missense	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.1037C>T	4.37:g.7056555C>T	ENSP00000308022:p.Pro346Leu		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.P346L	ENST00000310074.7	37	c.1037	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976314	0.34848	.	.	ENSG00000173011	ENST00000310074;ENST00000512388;ENST00000515646	T;T;T	0.60424	0.19;0.19;0.19	4.72	4.72	0.59763	Homeodomain-like (1);	.	.	.	.	T	0.56891	0.2016	L	0.58583	1.82	0.51233	D	0.999916	B;B	0.18741	0.03;0.018	B;B	0.16722	0.015;0.016	T	0.56914	-0.7900	9	0.48119	T	0.1	-18.2771	17.7216	0.88353	0.0:1.0:0.0:0.0	.	271;346	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	L	346;271;254	ENSP00000308022:P346L;ENSP00000423947:P271L;ENSP00000423181:P254L	ENSP00000308022:P346L	P	+	2	0	TADA2B	7107456	0.992000	0.36948	0.207000	0.23584	0.246000	0.25737	5.541000	0.67212	2.189000	0.69895	0.561000	0.74099	CCA	TADA2B	-	superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.512	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0	27	0	C	NM_152293		7056555	1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.793	T	T	7056555	C	T	7056555	3	4	53	1	0	0	0	0	1	0	0	0	15558	594	21	3	1043	3	TADA2B	4	7056555	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09		7056555	184097721	15	13234											
DHX15	1665	genome.wustl.edu	37	chr4	24531252	24531252	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgatatctgtacatgtccGgatgtaattctttgttgtta	8	19	8	6	1	2	1	0	1	2	0	3	2	3	2	1	1	1	4	1	1	4	8			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr4:24531252G>T	ENST00000336812.4	-	13	2398	c.2242C>A	c.(2242-2244)Cgg>Agg	p.R748R	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	748					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GTACATGTCCGGATGTAATTC	0.388																																																	0													156	140	145					4																	24531252		2203	4300	6503	SO:0001819	synonymous_variant	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"DEAH-boxes"	2738	protein-coding gene	gene with protein product		603403	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15", "DEAH (Asp-Glu-Ala-His) box polypeptide 15"	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.2242C>A	4.37:g.24531252G>T			Q9NQT7	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R748	ENST00000336812.4	37	c.2242	CCDS33966.1	4																																																																																			DHX15	-	pfam_DUF1605	ENSG00000109606		0.388	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	-	0	68	0	G	NM_001358		24531252	-1	tier1	-	no_errors	ENST00000336812	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	24531252	G	T	24531252	2	4	53	1	0	0	0	0	0	0	0	1	4515	1115	39	2		2	DHX15	4	24531252	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	17474697	24531252	166623024	16	13235											
TRPC3	7222	genome.wustl.edu	37	chr4	122854046	122854046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccactgggatgttgcCgtactcggcggcgtcgagga	6	7	16	12	6	0	0	0	0	0	0	2	3	0	2	2	4	2	3	2	4	1	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr4:122854046C>T	ENST00000379645.3	-	2	440	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	TRPC3_ENST00000264811.5_Missense_Mutation_p.G50S|TRPC3_ENST00000513531.1_Missense_Mutation_p.G50S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	38					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGATGTTGCCGTACTCGGCG	0.667																																																	0													55	53	54					4																	122854046		2203	4300	6503	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.367G>A	4.37:g.122854046C>T	ENSP00000368966:p.Gly123Ser		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.G123S	ENST00000379645.3	37	c.367	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.833684	0.97003	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.72835	-0.69;-0.69;-0.69;0.87	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88754	0.3252	10	0.87932	D	0	-37.2766	20.3932	0.98965	0.0:1.0:0.0:0.0	.	50;123	E9PCJ9;Q5G1L5	.;.	S	50;123;50;50	ENSP00000264811:G50S;ENSP00000368966:G123S;ENSP00000426899:G50S;ENSP00000422214:G50S	ENSP00000264811:G50S	G	-	1	0	TRPC3	123073496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.824000	0.97209	0.655000	0.94253	GGC	TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000138741		0.667	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0	77	0	C	NM_003305		122854046	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	T	T	122854046	C	T	122854046	3	4	53	1	0	0	0	0	1	0	0	0	16627	652	23	1	2442	1	TRPC3	4	122854046	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	98322794	122854046	68300230	17	13236											
PRDM9	56979	genome.wustl.edu	37	chr5	23527050	23527050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgggcggggctttaGccggcagtcagtcctcctca	5	9	16	11	2	2	0	2	0	0	0	4	1	4	1	3	5	1	2	3	5	1	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr5:23527050G>T	ENST00000296682.3	+	11	2035	c.1853G>T	c.(1852-1854)aGc>aTc	p.S618I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	618					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CGGGGCTTTAGCCGGCAGTCA	0.622										HNSCC(3;0.000094)																																							0													25	26	26					5																	23527050		1603	3435	5038	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1853G>T	5.37:g.23527050G>T	ENSP00000296682:p.Ser618Ile		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S618I	ENST00000296682.3	37	c.1853	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	3.369	-0.128834	0.06753	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.37058	1.22	1.89	0.98	0.19750	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.908086	0.09085	N	0.850775	T	0.36303	0.0962	N	0.26130	0.795	0.09310	N	1	P	0.43519	0.809	P	0.51701	0.677	T	0.32929	-0.9888	10	0.62326	D	0.03	-0.2426	8.0933	0.30813	0.0:0.6433:0.3567:0.0	.	618	Q9NQV7	PRDM9_HUMAN	I	618;384	ENSP00000296682:S618I	ENSP00000253473:S384I	S	+	2	0	PRDM9	23562807	0.000000	0.05858	0.240000	0.24138	0.071000	0.16799	-4.747000	0.00191	0.315000	0.23110	0.455000	0.32223	AGC	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.622	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	72	0	G	NM_020227		23527050	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.042	T	T	23527050	G	T	23527050	3	4	53	1	0	0	0	0	1	0	0	0	12505	971	34	3	1891	3	PRDM9	5	23527050	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		23527050	157388210	18	13237											
CAPSL	133690	genome.wustl.edu	37	chr5	35921208	35921208	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctctcggtcatggcgCgctgtccctgccatctgagg	4	10	12	15	3	3	1	1	1	2	0	6	1	4	1	3	3	1	1	3	3	0	0	rs370687666		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr5:35921208C>T	ENST00000397367.2	-	2	141	c.15G>A	c.(13-15)gcG>gcA	p.A5A	CAPSL_ENST00000514524.1_Silent_p.A5A|CAPSL_ENST00000397366.1_Silent_p.A5A	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	5						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GGTCATGGCGCGCTGTCCCTG	0.612																																																	0								C	,	0,4406		0,0,2203	76	67	70		15,15	-9.6	0.5	5		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CAPSL	NM_001042625.1,NM_144647.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	5/209,5/209	35921208	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"EF-hand domain containing"	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.15G>A	5.37:g.35921208C>T				Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom	p.A5	ENST00000397367.2	37	c.15	CCDS3912.2	5																																																																																			CAPSL	-	NULL	ENSG00000152611		0.612	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPSL	HGNC	protein_coding	OTTHUMT00000253772.2	-	0	82	0	C	NM_144647		35921208	-1	tier1	-	no_errors	ENST00000397366	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.097	T	T	35921208	C	T	35921208	2	4	53	1	0	0	0	0	0	0	0	1	2646	755	27	1		1	CAPSL	5	35921208	Silent	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	12394158	35921208	144994052	19	13238											
HSPA1L	3305	genome.wustl.edu	37	chr6	31778675	31778675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctcttgttgagatcacGtccattgaagtagtcctgaa	10	13	10	8	1	2	3	1	3	1	1	4	5	4	3	2	0	1	3	2	0	3	4	rs529670905		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:31778675G>A	ENST00000375654.4	-	2	1264	c.1075C>T	c.(1075-1077)Cgt>Tgt	p.R359C	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R359C	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	359					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGAGATCACGTCCATTGAAG	0.527																																																	0													65	61	62					6																	31778675		2203	4300	6503	SO:0001583	missense	0			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"Heat shock proteins / HSP70"	5234	protein-coding gene	gene with protein product		140559	"heat shock 70kD protein-like 1"			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1075C>T	6.37:g.31778675G>A	ENSP00000364805:p.Arg359Cys		A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R359C	ENST00000375654.4	37	c.1075	CCDS34413.1	6	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822052	0.50739	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01165	5.24;5.24	5.4	3.49	0.39957	.	0.231889	0.22372	N	0.060940	T	0.03263	0.0095	M	0.90759	3.145	0.48696	D	0.999698	D	0.76494	0.999	D	0.66351	0.943	T	0.06197	-1.0840	10	0.87932	D	0	-7.3322	6.1005	0.20045	0.0927:0.0:0.6415:0.2658	.	359	P34931	HS71L_HUMAN	C	359;359;304	ENSP00000364805:R359C;ENSP00000387691:R359C	ENSP00000364804:R304C	R	-	1	0	HSPA1L	31886654	0.941000	0.31946	0.674000	0.29902	0.959000	0.62525	4.433000	0.59929	1.522000	0.49001	-0.237000	0.12165	CGT	HSPA1L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000204390		0.527	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	-	0	104	0	G			31778675	-1	tier1	-	no_errors	ENST00000375654	ensembl	human	known	74_37	missense	21.67	47	13	SNP	0.998	A	A	31778675	G	A	31778675	3	1	53	1	0	0	0	0	1	0	0	0	7437	1145	40	1	854	1	HSPA1L	6	31778675	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		31778675	139336392	20	13239											
MDGA1	266727	genome.wustl.edu	37	chr6	37623625	37623625	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggtagaagttgcctcGcacatcgctcaccgtctggt	6	11	10	14	3	2	1	1	0	1	1	5	1	3	1	3	2	1	4	3	2	2	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:37623625G>A	ENST00000434837.3	-	4	1608	c.430C>T	c.(430-432)Cga>Tga	p.R144*	MDGA1_ENST00000297153.7_Nonsense_Mutation_p.R144*|MDGA1_ENST00000505425.1_Nonsense_Mutation_p.R144*	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	144	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.R144*(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AAGTTGCCTCGCACATCGCTC	0.607																																																	1	Substitution - Nonsense(1)	large_intestine(1)											46	48	47					6																	37623625		2125	4222	6347	SO:0001587	stop_gained	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.430C>T	6.37:g.37623625G>A	ENSP00000402584:p.Arg144*		A6NHG0|Q8NBE3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R144*	ENST00000434837.3	37	c.430	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	46	12.517085	0.99674	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437	.	.	.	5.8	4.92	0.64577	.	0.000000	0.42821	D	0.000658	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.3632	0.74499	0.0:0.0:0.8595:0.1405	.	.	.	.	X	144;144;144;88	.	ENSP00000297153:R144X	R	-	1	2	MDGA1	37731603	0.964000	0.33143	0.708000	0.30435	0.691000	0.40173	2.602000	0.46257	1.443000	0.47586	0.655000	0.94253	CGA	MDGA1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000112139		0.607	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	41	0	G			37623625	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	nonsense	14.71	29	5	SNP	0.953	A	A	37623625	G	A	37623625	4	1	53	1	0	0	0	0	0	1	0	0	9444	1095	38	1	2493	1	MDGA1	6	37623625	Nonsense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	5844950	37623625	133491442	21	13240											
RFX6	222546	genome.wustl.edu	37	chr6	117243304	117243304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatactgtggtagaacagaGagttattaaggtacttttta	13	14	11	3	0	0	2	0	0	0	2	0	4	0	3	0	3	3	3	0	3	7	8			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:117243304G>T	ENST00000332958.2	+	13	1443	c.1427G>T	c.(1426-1428)aGa>aTa	p.R476I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	476					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAGAACAGAGAGTTATTAAG	0.383																																																	0													103	104	104					6																	117243304		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1427G>T	6.37:g.117243304G>T	ENSP00000332208:p.Arg476Ile		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.R476I	ENST00000332958.2	37	c.1427	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363063	0.41902	.	.	ENSG00000185002	ENST00000332958	T	0.55413	0.52	5.53	4.65	0.58169	.	0.135299	0.64402	D	0.000002	T	0.26340	0.0643	L	0.27053	0.805	0.58432	D	0.999999	P	0.44006	0.824	B	0.40375	0.327	T	0.14952	-1.0454	10	0.52906	T	0.07	-13.0267	10.0525	0.42225	0.1495:0.0:0.8505:0.0	.	476	Q8HWS3	RFX6_HUMAN	I	476	ENSP00000332208:R476I	ENSP00000332208:R476I	R	+	2	0	RFX6	117349997	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.040000	0.64191	2.618000	0.88619	0.585000	0.79938	AGA	RFX6	-	NULL	ENSG00000185002		0.383	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2		0	46	0	G	NM_173560		117243304	1			no_errors	ENST00000332958	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	117243304	G	T	117243304	3	4	53	1	0	0	0	0	1	0	0	0	13312	942	33	3	1477	3	RFX6	6	117243304	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	79619679	117243304	53871763	22	13241											
SLC22A2	6582	genome.wustl.edu	37	chr6	160679544	160679544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcttggggaggcttcGcccgcaggtcctgggcccgg	3	8	16	14	3	1	0	0	0	1	0	3	1	2	1	3	6	0	2	3	6	0	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr6:160679544G>A	ENST00000366953.3	-	1	504	c.246C>T	c.(244-246)ggC>ggT	p.G82G	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.G61G	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	82					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GGGAGGCTTCGCCCGCAGGTC	0.677																																																	0													53	58	57					6																	160679544		2203	4300	6503	SO:0001819	synonymous_variant	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.246C>T	6.37:g.160679544G>A			Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G82	ENST00000366953.3	37	c.246	CCDS5276.1	6																																																																																			SLC22A2	-	pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.677	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	-	0	139	0	G	NM_003058		160679544	-1	tier1	-	no_errors	ENST00000366953	ensembl	human	known	74_37	silent	32.14	38	18	SNP	0.055	A	A	160679544	G	A	160679544	2	1	53	1	0	0	0	0	0	0	0	1	14495	1074	38	1		1	SLC22A2	6	160679544	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	43436240	160679544	10435523	23	13242											
PDGFA	5154	genome.wustl.edu	37	chr7	550549	550549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgggggccagatcaggAagttggcggacgtggggtcg	7	5	20	9	5	1	1	1	0	0	1	2	3	1	3	1	7	0	2	1	7	1	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:550549A>G	ENST00000354513.5	-	4	742	c.350T>C	c.(349-351)tTc>tCc	p.F117S	PDGFA_ENST00000402802.3_Missense_Mutation_p.F117S|PDGFA_ENST00000426681.2_5'Flank	NM_002607.5	NP_002598.4	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	117					actin cytoskeleton organization (GO:0030036)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell projection assembly (GO:0030031)|cell-cell signaling (GO:0007267)|embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|negative chemotaxis (GO:0050919)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling (GO:0060683)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of smooth muscle cell migration (GO:0014910)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|microvillus (GO:0005902)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|growth factor activity (GO:0008083)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CCAGATCAGGAAGTTGGCGGA	0.652																																																	0													69	52	58					7																	550549		2203	4300	6503	SO:0001583	missense	0				CCDS34578.1, CCDS47524.1	7p22	2008-07-18			ENSG00000197461	ENSG00000197461			8799	protein-coding gene	gene with protein product	"PDGF A-chain", "platelet-derived growth factor alpha chain"	173430				1505216, 2536956	Standard	NM_002607		Approved	PDGF1, PDGF-A	uc003sir.3	P04085	OTTHUMG00000151412	ENST00000354513.5:c.350T>C	7.37:g.550549A>G	ENSP00000346508:p.Phe117Ser		B5BU73	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.F117S	ENST00000354513.5	37	c.350	CCDS34578.1	7	.	.	.	.	.	.	.	.	.	.	a	18.88	3.718348	0.68844	.	.	ENSG00000197461	ENST00000402802;ENST00000354513	T;T	0.50548	0.75;0.74	4.69	4.69	0.59074	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.86502	2.82	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.999	T	0.77882	-0.2422	10	0.66056	D	0.02	-23.4479	14.1852	0.65601	1.0:0.0:0.0:0.0	.	131;117;117	Q32M96;P04085-2;P04085	.;.;PDGFA_HUMAN	S	117	ENSP00000383889:F117S;ENSP00000346508:F117S	ENSP00000346508:F117S	F	-	2	0	PDGFA	517075	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	8.267000	0.89874	1.750000	0.51863	0.456000	0.33151	TTC	PDGFA	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000197461		0.652	PDGFA-002	KNOWN	basic|CCDS	protein_coding	PDGFA	HGNC	protein_coding	OTTHUMT00000322534.1	-	0	68	0	A			550549	-1	tier1	-	no_errors	ENST00000354513	ensembl	human	known	74_37	missense	17.82	83	18	SNP	1.000	G	G	550549	A	G	550549	3	3	53	1	0	0	0	0	1	0	0	0	11696	246	9	4	312	4	PDGFA	7	550549	Missense_Mutation	SNP	A	TCGA-L5-A43M-01A-11D-A247-09		550549	158588114	24	13243											
SRPK2	6733	genome.wustl.edu	37	chr7	104787088	104787088	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcacttactgtgtaagtaAtctaacccttgaaggacctg	11	13	8	9	0	1	1	0	1	1	0	1	2	1	2	2	1	3	3	2	1	5	6			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:104787088A>C	ENST00000393651.3	-	8	726	c.639T>G	c.(637-639)gaT>gaG	p.D213E	SRPK2_ENST00000357311.3_Missense_Mutation_p.D202E|SRPK2_ENST00000489828.1_Missense_Mutation_p.D202E	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TGTGTAAGTAATCTAACCCTT	0.328																																																	0													118	105	109					7																	104787088		2203	4300	6503	SO:0001583	missense	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"SR protein kinase 2", "serine/arginine-rich splicing factor kinase 2"	602980	"SFRS protein kinase 2"			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.639T>G	7.37:g.104787088A>C	ENSP00000377262:p.Asp213Glu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D213E	ENST00000393651.3	37	c.639	CCDS34724.1	7	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655162	0.67472	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.20332	2.08;2.08;2.08	5.2	1.4	0.22301	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.12831	0.26	0.58432	D	0.999998	D;D	0.61697	0.99;0.98	D;D	0.72982	0.975;0.979	T	0.02075	-1.1218	10	0.48119	T	0.1	-25.2478	9.2406	0.37493	0.789:0.0:0.211:0.0	.	213;202	P78362-2;P78362	.;SRPK2_HUMAN	E	213;202;202	ENSP00000377262:D213E;ENSP00000349863:D202E;ENSP00000419791:D202E	ENSP00000349863:D202E	D	-	3	2	SRPK2	104574324	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	3.068000	0.50018	0.061000	0.16311	0.459000	0.35465	GAT	SRPK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135250		0.328	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	-	0	45	0	A	NM_182691		104787088	-1	tier1	-	no_errors	ENST00000393651	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	C	C	104787088	A	C	104787088	3	2	53	1	0	0	0	0	1	0	0	0	15207	98	4	4	1496	4	SRPK2	7	104787088	Missense_Mutation	SNP	A	TCGA-L5-A43M-01A-11D-A247-09	104236539	104787088	54351575	25	13244											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121652125	121652125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgaatttcttttacctGacacagatgggctgacagcc	11	12	9	9	0	1	4	0	3	1	1	1	4	1	4	2	1	2	1	2	1	3	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:121652125G>T	ENST00000393386.2	+	12	3436	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1009					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TCTTTTACCTGACACAGATGG	0.433																																																	0													119	118	118					7																	121652125		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3025G>T	7.37:g.121652125G>T	ENSP00000377047:p.Asp1009Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.D1009Y	ENST00000393386.2	37	c.3025	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737880	0.49045	.	.	ENSG00000106278	ENST00000393386	T	0.56611	0.45	5.47	3.66	0.41972	.	0.235349	0.37530	N	0.002051	T	0.68403	0.2997	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69822	-0.5041	10	0.87932	D	0	.	11.6645	0.51366	0.1436:0.0:0.8564:0.0	.	1009	P23471	PTPRZ_HUMAN	Y	1009	ENSP00000377047:D1009Y	ENSP00000377047:D1009Y	D	+	1	0	PTPRZ1	121439361	1.000000	0.71417	0.927000	0.36925	0.998000	0.95712	3.709000	0.54853	0.676000	0.31285	0.650000	0.86243	GAC	PTPRZ1	-	NULL	ENSG00000106278		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1		0	36	0	G	NM_002851		121652125	1			no_errors	ENST00000393386	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	T	T	121652125	G	T	121652125	3	4	53	1	0	0	0	0	1	0	0	0	12859	1290	45	3	3071	3	PTPRZ1	7	121652125	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	16865037	121652125	37486538	26	13245											
KRBA1	84626	genome.wustl.edu	37	chr7	149420836	149420836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccttagtgaagaccgagGcggtttcaggggattgtccc	7	12	13	9	2	1	2	1	1	0	1	3	4	3	3	3	4	0	1	3	4	2	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr7:149420836G>A	ENST00000485033.2	+	7	784	c.784G>A	c.(784-786)Gcg>Acg	p.A262T	KRBA1_ENST00000319551.8_Missense_Mutation_p.A262T|KRBA1_ENST00000255992.10_Missense_Mutation_p.A262T|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	262										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAAGACCGAGGCGGTTTCAGG	0.557																																																	0													49	54	52					7																	149420836		1951	4134	6085	SO:0001583	missense	0			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"-"	22228	protein-coding gene	gene with protein product			"KRAB A domain containing 1"				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.784G>A	7.37:g.149420836G>A	ENSP00000420112:p.Ala262Thr		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	NULL	p.A262T	ENST00000485033.2	37	c.784		7	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836286	0.71373	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.41758	1.02;0.99;0.99	5.26	-0.553	0.11815	.	0.560412	0.15045	N	0.283636	T	0.25680	0.0625	L	0.34521	1.04	0.09310	N	1	B	0.19331	0.035	B	0.16289	0.015	T	0.13282	-1.0515	10	0.39692	T	0.17	-2.7739	4.9248	0.13887	0.3636:0.0:0.4933:0.1431	.	262	A5PL33	KRBA1_HUMAN	T	262	ENSP00000255992:A262T;ENSP00000317165:A262T;ENSP00000420112:A262T	ENSP00000255992:A262T	A	+	1	0	KRBA1	149051769	0.054000	0.20591	0.096000	0.21009	0.525000	0.34531	-0.031000	0.12287	-0.029000	0.13827	0.655000	0.94253	GCG	KRBA1	-	NULL	ENSG00000133619		0.557	KRBA1-004	PUTATIVE	basic	protein_coding	KRBA1	HGNC	protein_coding	OTTHUMT00000349841.3	-	0	230	0	G	NM_032534		149420836	1	tier1	-	no_errors	ENST00000255992	ensembl	human	known	74_37	missense	24.86	136	45	SNP	0.013	A	A	149420836	G	A	149420836	3	1	53	1	0	0	0	0	1	0	0	0	8466	1203	42	3	810	3	KRBA1	7	149420836	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	27768711	149420836	9717827	27	13246											
TG	7038	genome.wustl.edu	37	chr8	133899255	133899255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggtactatgaataaGccaactgtgggcagctttgg	12	10	13	6	0	0	1	0	1	0	0	0	2	0	2	1	4	4	3	1	4	6	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr8:133899255G>T	ENST00000220616.4	+	9	1678	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	TG_ENST00000377869.1_Missense_Mutation_p.K546N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	546					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.K546K(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTATGAATAAGCCAACTGTGG	0.448																																																	1	Substitution - coding silent(1)	large_intestine(1)											69	68	69					8																	133899255		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1638G>T	8.37:g.133899255G>T	ENSP00000220616:p.Lys546Asn		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.K546N	ENST00000220616.4	37	c.1638	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	5.014	0.188241	0.09547	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66460	-0.21;-0.2	5.29	2.43	0.29744	.	0.547506	0.17662	N	0.166300	T	0.55721	0.1938	L	0.57536	1.79	0.09310	N	1	P	0.34462	0.454	B	0.26770	0.073	T	0.53272	-0.8462	10	0.72032	D	0.01	.	7.3538	0.26706	0.4128:0.0:0.5872:0.0	.	546	P01266	THYG_HUMAN	N	546	ENSP00000367100:K546N;ENSP00000220616:K546N	ENSP00000220616:K546N	K	+	3	2	TG	133968437	0.247000	0.23920	0.012000	0.15200	0.068000	0.16541	1.080000	0.30779	0.774000	0.33427	0.557000	0.71058	AAG	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1		0	48	0	G	NM_003235		133899255	1			no_errors	ENST00000220616	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.010	T	T	133899255	G	T	133899255	3	4	53	1	0	0	0	0	1	0	0	0	15860	962	34	3	1672	3	TG	8	133899255	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		133899255	12464767	28	13247											
SIGMAR1	10280	genome.wustl.edu	37	chr9	34637400	34637400	+	Frame_Shift_Del	DEL	C	C	-																															cacgatcagacgagagaaggCcagctcgtggtccagccctg																										TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr9:34637400delC	ENST00000277010.4	-	2	242	c.169delG	c.(169-171)gccfs	p.A57fs	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Frame_Shift_Del_p.A57fs	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	57					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	CGAGAGAAGGCCAGCTCGTGG	0.697																																																	0													15	20	18					9																	34637400		2200	4298	6498	SO:0001589	frameshift_variant	0			BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"opioid receptor, sigma 1"	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.169delG	9.37:g.34637400delC	ENSP00000277010:p.Ala57fs		D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Frame_Shift_Del	DEL	pfam_ERG2_sigma1_rcpt-like	p.A57fs	ENST00000277010.4	37	c.169	CCDS6562.1	9																																																																																			SIGMAR1	-	pfam_ERG2_sigma1_rcpt-like	ENSG00000147955		0.697	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGMAR1	HGNC	protein_coding	OTTHUMT00000052204.1		0	19	0	C	NM_005866		34637400	-1	tier1		no_errors	ENST00000277010	ensembl	human	known	74_37	frame_shift_del	40.00	3	2	DEL	1.000	-	-	34637400	C	-	34637400	7	5	53	1	0	1	0	1	0	0	0	0	14361	739	26	0	514	0	SIGMAR1	9	34637400	Frame_Shift_Del	DEL	C	TCGA-L5-A43M-01A-11D-A247-09		34637400	106576031	29	13248											
C9orf125	84302	genome.wustl.edu	37	chr9	104238319	104238319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccttgtggcagtacacttgGgacaggtaggtgagggtccg	7	9	16	9	1	0	1	0	1	0	0	1	2	1	2	2	5	1	3	2	5	2	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr9:104238319G>T	ENST00000374851.1	-	4	2203	c.1056C>A	c.(1054-1056)tcC>tcA	p.S352S	RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Silent_p.S352S|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Silent_p.S352S			Q9BRR3	TM246_HUMAN	transmembrane protein 246	352						integral component of membrane (GO:0016021)											AGTACACTTGGGACAGGTAGG	0.607																																																	0													64	60	61					9																	104238319		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1056C>A	9.37:g.104238319G>T			Q49AQ4	Silent	SNP	NULL	p.S352	ENST00000374851.1	37	c.1056	CCDS6757.1	9																																																																																			TMEM246	-	NULL	ENSG00000165152		0.607	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1		0	75	0	G	NM_032342		104238319	-1			no_errors	ENST00000374847	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.962	T	T	104238319	G	T	104238319	2	4	53	1	0	0	0	0	0	0	0	1	2461	1219	43	3		3	C9orf125	9	104238319	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	69600919	104238319	36975112	30	13249											
BARHL1	56751	genome.wustl.edu	37	chr9	135458334	135458334	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagcgactgctcttcGccagcctctccaggaaggga	9	6	12	14	2	2	0	0	0	2	0	4	3	2	2	3	2	5	3	3	2	1	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr9:135458334G>T	ENST00000263610.2	+	1	763	c.150G>T	c.(148-150)tcG>tcT	p.S50S	BARHL1_ENST00000542090.1_Silent_p.S50S	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	50					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		ACTGCTCTTCGCCAGCCTCTC	0.701																																																	0													38	45	43					9																	135458334		2201	4297	6498	SO:0001819	synonymous_variant	0			AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"Homeoboxes / ANTP class : NKL subclass"	953	protein-coding gene	gene with protein product		605211	"BarH (Drosophila)-like 1"				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.150G>T	9.37:g.135458334G>T			Q5T6V2|Q9NY88	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.S50	ENST00000263610.2	37	c.150	CCDS6950.1	9																																																																																			BARHL1	-	NULL	ENSG00000125492		0.701	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL1	HGNC	protein_coding	OTTHUMT00000054789.2	-	0	64	0	G			135458334	1	tier1	-	no_errors	ENST00000263610	ensembl	human	known	74_37	silent	15.79	31	6	SNP	0.932	T	T	135458334	G	T	135458334	2	4	53	1	0	0	0	0	0	0	0	1	1314	1074	38	2		2	BARHL1	9	135458334	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	31220015	135458334	5755097	31	13250											
NRG3	10718	genome.wustl.edu	37	chr10	84745037	84745037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaacctgcctgcaaatGccagggatttctgaagtcaa	13	8	11	9	0	2	1	1	1	1	0	2	4	2	3	3	2	4	1	3	2	4	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr10:84745037G>T	ENST00000404547.1	+	10	1839	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	NRG3_ENST00000556918.1_Missense_Mutation_p.M419I|NRG3_ENST00000372142.2_Missense_Mutation_p.M392I|NRG3_ENST00000372141.2_Missense_Mutation_p.M589I|NRG3_ENST00000537893.1_Missense_Mutation_p.M239I|NRG3_ENST00000545131.1_Missense_Mutation_p.M239I|NRG3_ENST00000404576.2_Missense_Mutation_p.M393I			P56975	NRG3_HUMAN	neuregulin 3	613					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCCTGCAAATGCCAGGGATTT	0.468																																																	0													98	99	99					10																	84745037		2203	4300	6503	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1839G>T	10.37:g.84745037G>T	ENSP00000384796:p.Met613Ile		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.M613I	ENST00000404547.1	37	c.1839	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123268	0.37436	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.46063	1.49;1.42;1.43;0.88;1.45;0.94;0.94	5.95	5.95	0.96441	.	0.127823	0.56097	D	0.000032	T	0.34250	0.0891	L	0.43152	1.355	0.37903	D	0.931094	P;P;B;P	0.38370	0.458;0.628;0.052;0.628	B;B;B;B	0.34489	0.125;0.184;0.052;0.184	T	0.39375	-0.9617	10	0.66056	D	0.02	-37.1506	11.1947	0.48707	0.0824:0.0:0.9176:0.0	.	588;613;392;589	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	I	589;613;588;392;393;419;239;239	ENSP00000361214:M589I;ENSP00000384796:M613I;ENSP00000361215:M392I;ENSP00000385804:M393I;ENSP00000451376:M419I;ENSP00000441201:M239I;ENSP00000440377:M239I	ENSP00000361214:M589I	M	+	3	0	NRG3	84735017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.988000	0.56951	2.827000	0.97445	0.650000	0.86243	ATG	NRG3	-	NULL	ENSG00000185737		0.468	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0	51	0	G	XM_166086		84745037	1	tier1	-	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	84745037	G	T	84745037	3	4	53	1	0	0	0	0	1	0	0	0	10688	1319	46	3	2045	3	NRG3	10	84745037	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		84745037	50789710	32	13251											
LRIT1	26103	genome.wustl.edu	37	chr10	85992508	85992508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactgtgttctgtggaagtCggtggctcagtgacaatcaa	9	11	12	9	1	3	1	2	1	1	0	4	2	3	2	1	3	0	2	1	3	3	1	rs560573358		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr10:85992508C>T	ENST00000372105.3	-	4	1068	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	349						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CTGTGGAAGTCGGTGGCTCAG	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		21732	0		0	False		,,,				2504	0																0													57	48	51					10																	85992508		2203	4300	6503	SO:0001819	synonymous_variant	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1047G>A	10.37:g.85992508C>T			Q0QD41|Q9Y4N7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P349	ENST00000372105.3	37	c.1047	CCDS7373.1	10																																																																																			LRIT1	-	NULL	ENSG00000148602		0.562	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0	32	0	C	NM_015613		85992508	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.000	T	T	85992508	C	T	85992508	2	4	53	1	0	0	0	0	0	0	0	1	8982	871	31	1		1	LRIT1	10	85992508	Silent	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	1247471	85992508	49542239	33	13252											
NELL1	4745	genome.wustl.edu	37	chr11	20968944	20968944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgctcagaaaaggatcaCattcttcctgagaatcagtg	14	10	8	9	0	4	2	3	1	1	2	5	4	5	3	1	1	2	1	1	1	4	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:20968944C>T	ENST00000357134.5	+	11	1286	c.1134C>T	c.(1132-1134)caC>caT	p.H378H	NELL1_ENST00000532434.1_Silent_p.H378H|NELL1_ENST00000298925.5_Silent_p.H406H|NELL1_ENST00000325319.5_Silent_p.H321H	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	378					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAAAGGATCACATTCTTCCTG	0.483																																																	0													137	130	132					11																	20968944		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1134C>T	11.37:g.20968944C>T			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.H378	ENST00000357134.5	37	c.1134	CCDS7855.1	11																																																																																			NELL1	-	smart_VWF_C	ENSG00000165973		0.483	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0	43	0	C	NM_006157		20968944	1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.953	T	T	20968944	C	T	20968944	2	4	53	1	0	0	0	0	0	0	0	1	10372	477	17	3		3	NELL1	11	20968944	Silent	SNP	C	TCGA-L5-A43M-01A-11D-A247-09		20968944	114037572	34	13253											
TP53I11	9537	genome.wustl.edu	37	chr11	44956472	44956472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcggccgacttggtaatagTagtaaatgctgatgacgaca	12	11	11	7	3	0	2	0	2	0	0	1	4	0	2	1	2	1	4	1	2	5	6			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:44956472T>C	ENST00000533940.1	-	10	1137	c.533A>G	c.(532-534)tAc>tGc	p.Y178C	TP53I11_ENST00000395648.3_Missense_Mutation_p.Y178C|TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000308212.5_Missense_Mutation_p.Y178C|TP53I11_ENST00000525680.1_Missense_Mutation_p.Y178C	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	178	Poly-Tyr.				negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						TTGGTAATAGTAGTAAATGCT	0.627																																																	0													94	93	93					11																	44956472		2203	4299	6502	SO:0001583	missense	0			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.533A>G	11.37:g.44956472T>C	ENSP00000436152:p.Tyr178Cys		Q3ZCS0	Missense_Mutation	SNP	NULL	p.Y178C	ENST00000533940.1	37	c.533	CCDS7911.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041158	0.75732	.	.	ENSG00000175274	ENST00000395648;ENST00000308212;ENST00000308220;ENST00000533940;ENST00000525680	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	T	0.69097	0.3073	M	0.65975	2.015	0.53688	D	0.999977	D;D	0.89917	1.0;0.997	D;P	0.63192	0.912;0.873	T	0.72520	-0.4268	8	0.87932	D	0	.	9.2351	0.37461	0.1615:0.0:0.0:0.8385	.	125;178	Q8N8U5;O14683	.;P5I11_HUMAN	C	178;178;125;178;178	.	ENSP00000309532:Y178C	Y	-	2	0	TP53I11	44913048	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.970000	0.63742	1.932000	0.55993	0.454000	0.30748	TAC	TP53I11	-	NULL	ENSG00000175274		0.627	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TP53I11	HGNC	protein_coding	OTTHUMT00000389909.1	-	0	61	0	T	NM_006034		44956472	-1	tier1	-	no_errors	ENST00000308212	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	C	C	44956472	T	C	44956472	3	2	53	1	0	0	0	0	1	0	0	0	16433	1638	57	4	40	4	TP53I11	11	44956472	Missense_Mutation	SNP	T	TCGA-L5-A43M-01A-11D-A247-09	23987528	44956472	90050044	35	13254											
CKAP5	9793	genome.wustl.edu	37	chr11	46776437	46776437	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attctgcagaggtgcccttaCcgaaatcatgttgccaatga	11	11	9	10	1	2	2	1	1	1	1	2	3	2	2	3	1	4	2	3	1	3	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:46776437C>A	ENST00000529230.1	-	36	4916		c.e36+1		MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000312055.5_Intron|CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000415402.1_Splice_Site			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTGCCCTTACCGAAATCATG	0.458																																					Ovarian(4;85 273 2202 4844 13323)												0													217	195	202					11																	46776437		2201	4299	6500	SO:0001630	splice_region_variant	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4869+1G>T	11.37:g.46776437C>A			Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Splice_Site	SNP	-	e35+1	ENST00000529230.1	37	c.4869+1	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979526	0.92982	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000527333;ENST00000526876	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5633	0.95382	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CKAP5	46733013	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.606000	0.82863	2.612000	0.88384	0.563000	0.77884	.	CKAP5	-	-	ENSG00000175216		0.458	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	-	0	91	0	C	NM_014756	Intron	46776437	-1	tier1	-	no_errors	ENST00000415402	ensembl	human	known	74_37	splice_site	14.12	73	12	SNP	1.000	A	A	46776437	C	A	46776437	5	1	53	1	0	0	0	0	0	0	1	0	3452	521	18	3	1264	3	CKAP5	11	46776437	Splice_Site	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	1819965	46776437	88230079	36	13255											
MS4A15	219995	genome.wustl.edu	37	chr11	60543107	60543107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgccaaacgccttcagCgcagacttcaacatccccag	10	8	6	17	2	2	1	2	0	0	1	4	1	4	1	5	0	4	1	5	0	2	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:60543107C>T	ENST00000405633.3	+	7	721	c.642C>T	c.(640-642)agC>agT	p.S214S	MS4A15_ENST00000528170.1_Silent_p.S173S|MS4A15_ENST00000337911.4_Silent_p.S121S	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	214						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						ACGCCTTCAGCGCAGACTTCA	0.582											OREG0020991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													143	146	145					11																	60543107		2203	4300	6503	SO:0001819	synonymous_variant	0			AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.642C>T	11.37:g.60543107C>T		1046	A9UJY6|A9UJY7|F2Z2J5	Silent	SNP	pfam_CD20-like	p.S214	ENST00000405633.3	37	c.642	CCDS44617.1	11																																																																																			MS4A15	-	NULL	ENSG00000166961		0.582	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MS4A15	HGNC	protein_coding	OTTHUMT00000395618.1	-	0	64	0	C			60543107	1	tier1	-	no_errors	ENST00000405633	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.996	T	T	60543107	C	T	60543107	2	4	53	1	0	0	0	0	0	0	0	1	9897	767	27	1		1	MS4A15	11	60543107	Silent	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	13766670	60543107	74463409	37	13256											
TYR	7299	genome.wustl.edu	37	chr11	88911367	88911367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgggagtcgtggccttcCgtcttttataataggacctg	7	12	12	10	3	1	0	0	0	1	0	3	3	2	2	4	3	0	0	4	3	3	5	rs139926589		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:88911367C>T	ENST00000263321.5	+	1	748	c.246C>T	c.(244-246)tcC>tcT	p.S82S	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	82					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CGTGGCCTTCCGTCTTTTATA	0.507																																																	0								C		0,4402		0,0,2201	46	43	44		246	-12.1	0	11	dbSNP_134	44	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	TYR	NM_000372.4		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		82/530	88911367	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"oculocutaneous albinism IA"	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.246C>T	11.37:g.88911367C>T			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.S82	ENST00000263321.5	37	c.246	CCDS8284.1	11																																																																																			TYR	-	superfamily_Unchr_di-copper_centre	ENSG00000077498		0.507	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYR	HGNC	protein_coding	OTTHUMT00000394045.2	-	0	28	0	C	NM_000372		88911367	1	tier1	rs139926589	no_errors	ENST00000263321	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.004	T	T	88911367	C	T	88911367	2	4	53	1	0	0	0	0	0	0	0	1	16862	639	23	1		1	TYR	11	88911367	Silent	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	28368260	88911367	46095149	38	13257											
ALKBH8	91801	genome.wustl.edu	37	chr11	107375398	107375398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataatcaggccttttgaaGaatcacacaccagtttcctt	14	12	5	10	0	2	2	2	1	0	1	3	2	3	2	3	1	0	1	3	1	4	5			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr11:107375398G>A	ENST00000428149.2	-	12	2132	c.1981C>T	c.(1981-1983)Ctt>Ttt	p.L661F	ALKBH8_ENST00000389568.3_Missense_Mutation_p.L661F|ALKBH8_ENST00000429370.1_Intron|ALKBH8_ENST00000417449.2_Missense_Mutation_p.L664F	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	661	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GCCTTTTGAAGAATCACACAC	0.373																																																	0													38	33	34					11																	107375398		692	1591	2283	SO:0001583	missense	0			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"Alkylation repair homologs", "RNA binding motif (RRM) containing"	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1981C>T	11.37:g.107375398G>A	ENSP00000415885:p.Leu661Phe		B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.L664F	ENST00000428149.2	37	c.1990	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	7.925	0.739506	0.15642	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	T;T;T	0.53857	0.61;0.61;0.6	5.09	4.06	0.47325	.	0.206543	0.42053	D	0.000771	T	0.41926	0.1180	L	0.39020	1.185	0.49915	D	0.999837	B;B	0.29232	0.043;0.238	B;B	0.30855	0.03;0.121	T	0.38090	-0.9677	10	0.41790	T	0.15	-22.4434	11.0021	0.47611	0.1265:0.0:0.8735:0.0	.	661;664	Q96BT7;Q96BT7-4	ALKB8_HUMAN;.	F	661;661;664	ENSP00000415885:L661F;ENSP00000374219:L661F;ENSP00000397673:L664F	ENSP00000374219:L661F	L	-	1	0	ALKBH8	106880608	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.202000	0.42743	2.368000	0.80403	0.650000	0.86243	CTT	ALKBH8	-	NULL	ENSG00000137760		0.373	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2		0	46	0	G	NM_138775		107375398	-1			no_errors	ENST00000417449	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.998	A	A	107375398	G	A	107375398	3	1	53	1	0	0	0	0	1	0	0	0	533	942	33	3	17	3	ALKBH8	11	107375398	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	18464031	107375398	27631118	39	13258											
IQSEC3	440073	genome.wustl.edu	37	chr12	247762	247762	+	Frame_Shift_Del	DEL	G	G	-																															caggtgcaatccctggccaaGtccatcgacgacgcgctcag																										TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:247762delG	ENST00000538872.1	+	4	1351	c.1233delG	c.(1231-1233)aagfs	p.K411fs	IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.K411fs|IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.K108fs|RP11-598F7.4_ENST00000505893.2_RNA|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	411					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCCTGGCCAAGTCCATCGACG	0.697																																																	0													26	22	23					12																	247762		2198	4300	6498	SO:0001589	frameshift_variant	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1233delG	12.37:g.247762delG	ENSP00000437554:p.Lys411fs		A6NIF2|A6NKV9|Q8TB43	Frame_Shift_Del	DEL	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.K411fs	ENST00000538872.1	37	c.1233	CCDS53728.1	12																																																																																			IQSEC3	-	NULL	ENSG00000120645		0.697	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3		0	37	0	G	XM_495902		247762	1	tier1		no_errors	ENST00000326261	ensembl	human	known	74_37	frame_shift_del	18.18	9	2	DEL	1.000	-	-	247762	G	-	247762	7	5	53	1	0	1	0	1	0	0	0	0	7846	1020	36	0	1247	0	IQSEC3	12	247762	Frame_Shift_Del	DEL	G	TCGA-L5-A43M-01A-11D-A247-09		247762	133604133	40	13259											
SYT10	341359	genome.wustl.edu	37	chr12	33529826	33529826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactatcaaaactggtcgccCggccaggtaactgaaagaca	14	6	10	11	2	1	2	1	1	0	1	2	3	1	2	2	3	2	1	2	3	5	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:33529826C>T	ENST00000228567.3	-	7	1807	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R323Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	504					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ACTGGTCGCCCGGCCAGGTAA	0.393																																																	0													107	105	105					12																	33529826		2203	4300	6503	SO:0001583	missense	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1511G>A	12.37:g.33529826C>T	ENSP00000228567:p.Arg504Gln		Q495U2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.R504Q	ENST00000228567.3	37	c.1511	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345663	0.61073	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.50001	0.82;0.76	4.83	4.83	0.62350	.	0.000000	0.37178	U	0.002207	T	0.37945	0.1022	L	0.51422	1.61	0.53005	D	0.999967	B	0.31100	0.308	B	0.20384	0.029	T	0.20405	-1.0276	10	0.33141	T	0.24	.	11.3394	0.49525	0.0:0.9153:0.0:0.0847	.	504	Q6XYQ8	SYT10_HUMAN	Q	504;323	ENSP00000228567:R504Q;ENSP00000438691:R323Q	ENSP00000228567:R504Q	R	-	2	0	SYT10	33421093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.776000	0.47709	2.596000	0.87737	0.655000	0.94253	CGG	SYT10	-	NULL	ENSG00000110975		0.393	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	-	0	35	0	C	NM_198992		33529826	-1	tier1	-	no_errors	ENST00000228567	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	T	T	33529826	C	T	33529826	3	4	53	1	0	0	0	0	1	0	0	0	15513	652	23	1	64	1	SYT10	12	33529826	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	33282064	33529826	100322069	41	13260											
LEMD3	23592	genome.wustl.edu	37	chr12	65634751	65634751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgctaatgagtctagagTtcgcacggaaacacgaagaa	14	8	11	8	3	1	3	0	1	1	2	2	5	1	4	0	1	3	4	0	1	5	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:65634751T>C	ENST00000308330.2	+	9	2215	c.2189T>C	c.(2188-2190)gTt>gCt	p.V730A		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	730	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GAGTCTAGAGTTCGCACGGAA	0.398																																																	0													146	133	137					12																	65634751		2203	4300	6503	SO:0001583	missense	0			AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.2189T>C	12.37:g.65634751T>C	ENSP00000308369:p.Val730Ala		Q9NT47|Q9NYA5	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.V730A	ENST00000308330.2	37	c.2189	CCDS8972.1	12	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435458	0.83885	.	.	ENSG00000174106	ENST00000308330	T	0.60299	0.2	5.3	5.3	0.74995	Inner nuclear membrane protein MAN1 (1);	0.057540	0.64402	D	0.000002	T	0.74306	0.3699	M	0.71036	2.16	0.80722	D	1	D	0.57257	0.979	D	0.72075	0.976	T	0.75187	-0.3406	9	.	.	.	-11.7869	15.5485	0.76129	0.0:0.0:0.0:1.0	.	730	Q9Y2U8	MAN1_HUMAN	A	730	ENSP00000308369:V730A	.	V	+	2	0	LEMD3	63921018	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	7.841000	0.86834	2.130000	0.65690	0.477000	0.44152	GTT	LEMD3	-	pfam_Inner-Nucl-membr_MAN1	ENSG00000174106		0.398	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD3	HGNC	protein_coding	OTTHUMT00000401312.2		0	72	0	T			65634751	1			no_errors	ENST00000308330	ensembl	human	known	74_37	missense	7.69	228	19	SNP	1.000	C	C	65634751	T	C	65634751	3	2	53	1	0	0	0	0	1	0	0	0	8749	1725	60	4	2223	4	LEMD3	12	65634751	Missense_Mutation	SNP	T	TCGA-L5-A43M-01A-11D-A247-09	32104925	65634751	68217144	42	13261											
DNAH10	196385	genome.wustl.edu	37	chr12	124352662	124352662	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaaccctggggaactGccaggtgggaaccgagtgtc	8	6	16	11	1	0	0	0	0	0	0	1	3	0	2	4	5	4	0	4	5	3	0			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr12:124352662G>T	ENST00000409039.3	+	42	7186	c.7161G>T	c.(7159-7161)ctG>ctT	p.L2387L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2387					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGGGAACTGCCAGGTGGGA	0.458																																																	0													37	38	38					12																	124352662		1872	4111	5983	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7161G>T	12.37:g.124352662G>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.L2387	ENST00000409039.3	37	c.7161	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0	68	0	G			124352662	1			no_errors	ENST00000409039	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.984	T	T	124352662	G	T	124352662	2	4	53	1	0	0	0	0	0	0	0	1	4612	1306	46	3		3	DNAH10	12	124352662	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	58717911	124352662	9499233	43	13262											
CPB2	1361	genome.wustl.edu	37	chr13	46652979	46652979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatgaggatccaatgtGgatttttgtaagcatatcag	13	13	9	6	0	2	1	2	1	0	0	3	3	3	3	1	2	1	2	1	2	4	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr13:46652979G>C	ENST00000181383.4	-	5	458	c.442C>G	c.(442-444)Cac>Gac	p.H148D	CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.H148D|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	148					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GATCCAATGTGGATTTTTGTA	0.393																																																	0													134	137	136					13																	46652979		2203	4300	6503	SO:0001583	missense	0			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"thrombin-activatable fibrinolysis inhibitor", "carboxypeptidase U", "plasma carboxypeptidase B", "carboxypeptidase R"	603101	"carboxypeptidase B2 (plasma, carboxypeptidase U)"			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.442C>G	13.37:g.46652979G>C	ENSP00000181383:p.His148Asp		A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.H148D	ENST00000181383.4	37	c.442	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	G	1.706	-0.500407	0.04291	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.10005	2.92;2.92	5.17	3.4	0.38934	Peptidase M14, carboxypeptidase A (2);	0.215951	0.48286	D	0.000189	T	0.07413	0.0187	N	0.15975	0.35	0.33836	D	0.63086	P;B	0.39665	0.682;0.278	B;B	0.44133	0.281;0.442	T	0.34129	-0.9841	10	0.13108	T	0.6	.	9.1691	0.37069	0.1837:0.0:0.8163:0.0	.	148;148	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	D	148	ENSP00000181383:H148D;ENSP00000400714:H148D	ENSP00000181383:H148D	H	-	1	0	CPB2	45550980	1.000000	0.71417	0.999000	0.59377	0.224000	0.24922	3.193000	0.50997	0.657000	0.30906	0.462000	0.41574	CAC	CPB2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000080618		0.393	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	-	0	36	0	G	NM_001872		46652979	-1	tier1	-	no_errors	ENST00000181383	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	C	C	46652979	G	C	46652979	3	2	53	1	0	0	0	0	1	0	0	0	3804	1348	47	5	857	5	CPB2	13	46652979	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		46652979	68516899	44	13263											
SSTR1	6751	genome.wustl.edu	37	chr14	38678867	38678867	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctatgccaagatgaagacGgccaccaacatctacatcct	13	7	7	14	2	1	3	0	1	1	2	2	3	2	3	4	1	3	1	4	1	5	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:38678867G>T	ENST00000267377.2	+	3	890	c.273G>T	c.(271-273)acG>acT	p.T91T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	91					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	AGATGAAGACGGCCACCAACA	0.547																																																	0													184	167	173					14																	38678867		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.273G>T	14.37:g.38678867G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.T91	ENST00000267377.2	37	c.273	CCDS9666.1	14																																																																																			SSTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Opioid_rcpt,prints_NPY_rcpt	ENSG00000139874		0.547	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	HGNC	protein_coding	OTTHUMT00000409930.2		0	72	0	G			38678867	1			no_errors	ENST00000267377	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.998	T	T	38678867	G	T	38678867	2	4	53	1	0	0	0	0	0	0	0	1	15244	1103	39	2		2	SSTR1	14	38678867	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		38678867	68670673	45	13264											
C14orf135	64430	genome.wustl.edu	37	chr14	60591065	60591065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactttggaaatgtcttgAcaccctgtactgttttgcct	9	15	7	10	0	1	1	0	1	1	0	1	2	1	2	2	1	3	2	2	1	3	5			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:60591065A>T	ENST00000406854.1	+	9	2730	c.2176A>T	c.(2176-2178)Aca>Tca	p.T726S	PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.T492S|PCNXL4_ENST00000404681.2_Missense_Mutation_p.T726S|PCNXL4_ENST00000317623.4_Missense_Mutation_p.T492S			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	726						integral component of membrane (GO:0016021)											AAATGTCTTGACACCCTGTAC	0.363																																																	0													74	67	70					14																	60591065		2203	4300	6503	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2176A>T	14.37:g.60591065A>T	ENSP00000384801:p.Thr726Ser		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.T726S	ENST00000406854.1	37	c.2176		14	.	.	.	.	.	.	.	.	.	.	A	20.5	3.997995	0.74818	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.25749	1.79;1.83;1.78;1.83	5.71	5.71	0.89125	.	0.092281	0.85682	D	0.000000	T	0.50633	0.1627	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.78314	0.815;0.991	T	0.45205	-0.9277	10	0.28530	T	0.3	.	15.9876	0.80174	1.0:0.0:0.0:0.0	.	726;492	Q63HM2;B5MC47	CN135_HUMAN;.	S	492;726;492;726	ENSP00000317396:T492S;ENSP00000384801:T726S;ENSP00000385201:T492S;ENSP00000385713:T726S	ENSP00000317396:T492S	T	+	1	0	C14orf135	59660818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.730000	0.91510	2.180000	0.69256	0.528000	0.53228	ACA	PCNXL4	-	NULL	ENSG00000126773		0.363	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	-	0	71	0	A	NM_022495		60591065	1	tier1	-	no_errors	ENST00000404681	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	T	T	60591065	A	T	60591065	3	4	53	1	0	0	0	0	1	0	0	0	1750	275	10	5	1500	5	C14orf135	14	60591065	Missense_Mutation	SNP	A	TCGA-L5-A43M-01A-11D-A247-09	21912198	60591065	46758475	46	13265											
DPF3	8110	genome.wustl.edu	37	chr14	73181155	73181155	+	Frame_Shift_Del	DEL	G	G	-																															acagacgtaaggtttgtcgtGgtcttcctgagaggcggcgt																										TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:73181155delG	ENST00000556509.1	-	6	579	c.580delC	c.(580-582)cacfs	p.H194fs	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Frame_Shift_Del_p.H204fs|DPF3_ENST00000541685.1_Frame_Shift_Del_p.H194fs	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	194					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGTTTGTCGTGGTCTTCCTGA	0.622																																																	0													91	105	101					14																	73181155		2099	4206	6305	SO:0001589	frameshift_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.580delC	14.37:g.73181155delG	ENSP00000450518:p.His194fs		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H249fs	ENST00000556509.1	37	c.745		14																																																																																			DPF3	-	NULL	ENSG00000205683		0.622	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2		0	51	0	G			73181155	-1	tier1		no_errors	ENST00000366353	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	0.998	-	-	73181155	G	-	73181155	7	5	53	1	0	1	0	1	0	0	0	0	4732	1348	47	0	509	0	DPF3	14	73181155	Frame_Shift_Del	DEL	G	TCGA-L5-A43M-01A-11D-A247-09	12590090	73181155	34168385	47	13266											
ACOT4	122970	genome.wustl.edu	37	chr14	74058892	74058892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagcttcgcgggactcgagCccatggggctgctctgggcc	4	7	16	14	3	1	0	0	0	1	0	3	2	1	1	2	4	3	4	2	4	0	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr14:74058892C>G	ENST00000326303.4	+	1	483	c.229C>G	c.(229-231)Ccc>Gcc	p.P77A		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	77					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GGGACTCGAGCCCATGGGGCT	0.692																																																	0													14	15	15					14																	74058892		2145	4169	6314	SO:0001583	missense	0			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"Acyl CoA thioesterases"	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.229C>G	14.37:g.74058892C>G	ENSP00000323071:p.Pro77Ala		Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.P77A	ENST00000326303.4	37	c.229	CCDS9817.1	14	.	.	.	.	.	.	.	.	.	.	C	31	5.080086	0.94050	.	.	ENSG00000177465	ENST00000326303	T	0.70282	-0.47	4.93	4.93	0.64822	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.81802	2.56	0.80722	D	1	P	0.49635	0.926	P	0.50049	0.629	D	0.83564	0.0108	10	0.62326	D	0.03	-14.7993	18.4959	0.90865	0.0:1.0:0.0:0.0	.	77	Q8N9L9	ACOT4_HUMAN	A	77	ENSP00000323071:P77A	ENSP00000323071:P77A	P	+	1	0	ACOT4	73128645	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.348000	0.66004	2.438000	0.82558	0.462000	0.41574	CCC	ACOT4	-	pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000177465		0.692	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT4	HGNC	protein_coding	OTTHUMT00000404298.2	-	0	39	0	C	NM_152331		74058892	1	tier1	-	no_errors	ENST00000326303	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	G	G	74058892	C	G	74058892	3	3	53	1	0	0	0	0	1	0	0	0	153	739	26	5	231	5	ACOT4	14	74058892	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	877737	74058892	33290648	48	13267											
RFX7	64864	genome.wustl.edu	37	chr15	56390553	56390553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggtataaaagcagaaGgctgggtaattcctttcatt	12	13	10	6	0	1	1	1	0	0	1	2	1	2	1	1	3	1	5	1	3	6	7			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:56390553G>A	ENST00000559447.2	-	8	813	c.542C>T	c.(541-543)cCt>cTt	p.P181L	RFX7_ENST00000422057.1_Missense_Mutation_p.P181L|RFX7_ENST00000423270.1_Missense_Mutation_p.P278L|RFX7_ENST00000317318.6_Missense_Mutation_p.P278L			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	181					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAAAGCAGAAGGCTGGGTAAT	0.383																																																	0													34	32	33					15																	56390553		1821	4067	5888	SO:0001583	missense	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.542C>T	15.37:g.56390553G>A	ENSP00000453281:p.Pro181Leu		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.P278L	ENST00000559447.2	37	c.833		15	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958463	0.53400	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.52526	0.66;0.67;0.67	5.64	4.72	0.59763	.	0.160288	0.43919	D	0.000502	T	0.33789	0.0875	N	0.14661	0.345	0.45239	D	0.998246	B;B	0.15141	0.012;0.003	B;B	0.14023	0.01;0.006	T	0.12218	-1.0556	10	0.66056	D	0.02	-8.9693	15.161	0.72785	0.0:0.0:0.8581:0.1419	.	181;181	Q2KHR2;C9JU50	RFX7_HUMAN;.	L	181;278;278	ENSP00000387504:P181L;ENSP00000313299:P278L;ENSP00000397644:P278L	ENSP00000313299:P278L	P	-	2	0	RFX7	54177845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.337000	0.59310	1.364000	0.46038	0.655000	0.94253	CCT	RFX7	-	NULL	ENSG00000181827		0.383	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	-	0	40	0	G	NM_022841		56390553	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	A	A	56390553	G	A	56390553	3	1	53	1	0	0	0	0	1	0	0	0	13313	1000	35	3	3557	3	RFX7	15	56390553	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		56390553	46140839	49	13268											
MPI	4351	genome.wustl.edu	37	chr15	75190056	75190056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgctgatattccgtgcCtgctgtctgctgtaaaggct	6	13	11	11	1	1	1	0	1	1	0	2	2	2	1	3	1	4	5	3	1	3	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:75190056C>T	ENST00000352410.4	+	8	1324	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	MPI_ENST00000323744.6_Silent_p.A358A|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000563786.1_Silent_p.A399A|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000535694.1_Silent_p.A369A			P34949	MPI_HUMAN	mannose phosphate isomerase	419					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TATTCCGTGCCTGCTGTCTGC	0.587																																																	0													138	122	128					15																	75190056		2197	4295	6492	SO:0001819	synonymous_variant	0				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.1257C>T	15.37:g.75190056C>T			A8K8K9|Q96AB0	Silent	SNP	pfam_Man6P_Isoase-1,superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase,prints_Mannose-6-P_Isomerase,tigrfam_Man6P_Isoase-1	p.A419	ENST00000352410.4	37	c.1257	CCDS10272.1	15																																																																																			MPI	-	superfamily_RmlC_Cupin,pirsf_Mannose-6-P_Isomerase	ENSG00000178802		0.587	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPI	HGNC	protein_coding	OTTHUMT00000286418.4	-	0	83	0	C			75190056	1	tier1	-	no_errors	ENST00000352410	ensembl	human	known	74_37	silent	14.29	36	6	SNP	1.000	T	T	75190056	C	T	75190056	2	4	53	1	0	0	0	0	0	0	0	1	9767	668	24	3		3	MPI	15	75190056	Silent	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	18799503	75190056	27341336	50	13269											
CSPG4	1464	genome.wustl.edu	37	chr15	75970175	75970175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtatcatgggcctccCaaaagggctcggggggcatc	8	7	15	11	1	1	0	1	0	0	0	4	0	2	0	2	6	0	3	2	6	4	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr15:75970175C>A	ENST00000308508.5	-	9	5095	c.5003G>T	c.(5002-5004)tGg>tTg	p.W1668L	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1668	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGCCTCCCAAAAGGGCTC	0.622																																																	0													48	50	49					15																	75970175		2196	4294	6490	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5003G>T	15.37:g.75970175C>A	ENSP00000312506:p.Trp1668Leu		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.W1668L	ENST00000308508.5	37	c.5003	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600777	0.87055	.	.	ENSG00000173546	ENST00000308508	T	0.20881	2.04	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000018	T	0.49830	0.1580	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55560	-0.8122	10	0.62326	D	0.03	.	16.6339	0.85041	0.0:1.0:0.0:0.0	.	1668	Q6UVK1	CSPG4_HUMAN	L	1668	ENSP00000312506:W1668L	ENSP00000312506:W1668L	W	-	2	0	CSPG4	73757230	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.087000	0.76893	2.267000	0.75376	0.485000	0.47835	TGG	CSPG4	-	NULL	ENSG00000173546		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	66	0	C	NM_001897		75970175	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	A	A	75970175	C	A	75970175	3	1	53	1	0	0	0	0	1	0	0	0	3969	595	21	3	1973	3	CSPG4	15	75970175	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	780119	75970175	26561217	51	13270											
LMF1	64788	genome.wustl.edu	37	chr16	920852	920852	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagcaggacgcccagcGagacgttggctgcacgccgc	8	3	15	15	5	0	1	0	0	0	1	0	3	0	2	3	3	3	4	3	3	0	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:920852G>T	ENST00000262301.11	-	8	1127	c.1109C>A	c.(1108-1110)tCg>tAg	p.S370*	LMF1_ENST00000399843.2_Nonsense_Mutation_p.S370*|LMF1_ENST00000543238.1_Nonsense_Mutation_p.S133*|LMF1_ENST00000568897.1_Nonsense_Mutation_p.S153*|LMF1_ENST00000568268.1_5'UTR	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	370					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GACGCCCAGCGAGACGTTGGC	0.657																																																	0													50	57	55					16																	920852		2132	4254	6386	SO:0001587	stop_gained	0			AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1109C>A	16.37:g.920852G>T	ENSP00000262301:p.Ser370*		Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Nonsense_Mutation	SNP	pfam_LMF	p.S370*	ENST00000262301.11	37	c.1109	CCDS45373.1	16	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989928	0.93106	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	.	.	.	5.48	3.5	0.40072	.	0.321137	0.34879	N	0.003614	.	.	.	.	.	.	0.38497	D	0.948118	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1858	11.1025	0.48184	0.155:0.0:0.845:0.0	.	.	.	.	X	370;370;153;124;133	.	ENSP00000262301:S370X	S	-	2	0	LMF1	860853	0.921000	0.31238	0.002000	0.10522	0.046000	0.14306	3.842000	0.55858	1.329000	0.45376	0.561000	0.74099	TCG	LMF1	-	pfam_LMF	ENSG00000103227		0.657	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LMF1	HGNC	protein_coding	OTTHUMT00000109071.3		0	62	0	G	NM_022773		920852	-1			no_errors	ENST00000262301	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.015	T	T	920852	G	T	920852	4	4	53	1	0	0	0	0	0	1	0	0	8875	1059	37	2	610	2	LMF1	16	920852	Nonsense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		920852	89433901	52	13271											
CORO7	79585	genome.wustl.edu	37	chr16	4414633	4414633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccaccagctatgggggtCggtggcaggcacacagccgg	8	4	16	13	2	0	0	0	0	0	0	1	0	0	0	3	6	3	3	3	6	1	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:4414633C>T	ENST00000251166.4	-	13	1247	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	CORO7_ENST00000423908.2_Missense_Mutation_p.D200N|CORO7_ENST00000539968.1_Missense_Mutation_p.D148N|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.D368N|CORO7_ENST00000574025.1_Missense_Mutation_p.D283N|CORO7_ENST00000537233.2_Missense_Mutation_p.D350N	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	368					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CTATGGGGGTCGGTGGCAGGC	0.687																																																	0													12	11	12					16																	4414633		2174	4266	6440	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.1102G>A	16.37:g.4414633C>T	ENSP00000251166:p.Asp368Asn		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D368N	ENST00000251166.4	37	c.1102	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	5.595	0.294597	0.10567	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	T;T;T	0.29655	1.56;1.56;1.56	5.31	3.14	0.36123	Domain of unknown function DUF1900 (1);	0.969624	0.08501	N	0.936360	T	0.25531	0.0621	L	0.46614	1.455	0.09310	N	1	B;B;B;B;B;B	0.19331	0.035;0.009;0.011;0.009;0.009;0.011	B;B;B;B;B;B	0.13407	0.009;0.003;0.006;0.008;0.005;0.007	T	0.24333	-1.0163	10	0.48119	T	0.1	-15.5008	3.9969	0.09563	0.176:0.5275:0.0:0.2964	.	283;350;148;148;368;349	P57737-2;B4DFD6;B3KSY4;B3KUH7;P57737;B4DKU9	.;.;.;.;CORO7_HUMAN;.	N	368;283;148;200	ENSP00000251166:D368N;ENSP00000446221:D148N;ENSP00000391530:D200N	ENSP00000251166:D368N	D	-	1	0	CORO7	4354634	0.000000	0.05858	0.072000	0.20136	0.276000	0.26787	0.774000	0.26675	1.239000	0.43787	0.455000	0.32223	GAC	CORO7-PAM16	-	pfam_DUF1900	ENSG00000103426		0.687	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0	44	0	C	NM_024535		4414633	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.003	T	T	4414633	C	T	4414633	3	4	53	1	0	0	0	0	1	0	0	0	3766	884	31	1	1739	1	CORO7	16	4414633	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	3493781	4414633	85940120	53	13272											
ERN2	10595	genome.wustl.edu	37	chr16	23707240	23707240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgaaagtcccgcctgcccCgcggcccagcacgtccttgg	7	5	11	18	5	0	0	0	0	0	0	2	1	2	0	6	2	3	1	6	2	2	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:23707240C>T	ENST00000457008.2	-	13	1467	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R	ERN2_ENST00000256797.4_Missense_Mutation_p.G577R					endoplasmic reticulum to nucleus signaling 2									p.G577W(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCGCCTGCCCCGCGGCCCAGC	0.632																																																	1	Substitution - Missense(1)	lung(1)											39	38	39					16																	23707240		2197	4300	6497	SO:0001583	missense	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1429G>A	16.37:g.23707240C>T	ENSP00000413812:p.Gly477Arg			Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.G577R	ENST00000457008.2	37	c.1729		16	.	.	.	.	.	.	.	.	.	.	C	33	5.216532	0.95104	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	D;D	0.96365	-3.99;-3.99	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99100	1.0843	10	0.87932	D	0	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	477;529	E7ETG2;A5YM65	.;.	R	577;477	ENSP00000256797:G577R;ENSP00000413812:G477R	ENSP00000256797:G577R	G	-	1	0	ERN2	23614741	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	6.986000	0.76200	2.825000	0.97269	0.655000	0.94253	GGG	ERN2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134398		0.632	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1	-	0	87	0	C			23707240	-1	tier1	-	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.999	T	T	23707240	C	T	23707240	3	4	53	1	0	0	0	0	1	0	0	0	5254	652	23	1	1231	1	ERN2	16	23707240	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	19292607	23707240	66647513	54	13273											
DNAJA2	10294	genome.wustl.edu	37	chr16	46992949	46992949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatccagttgttttcaGgaaactgcacatcaaacttt	11	14	8	8	0	2	1	2	1	0	0	3	2	3	2	1	2	3	4	1	2	2	5			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:46992949G>T	ENST00000317089.5	-	8	1228	c.1013C>A	c.(1012-1014)cCt>cAt	p.P338H		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	338					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GTTGTTTTCAGGAAACTGCAC	0.383																																																	0													90	86	87					16																	46992949		2203	4300	6503	SO:0001583	missense	0			AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"Heat shock proteins / DNAJ (HSP40)"	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.1013C>A	16.37:g.46992949G>T	ENSP00000314030:p.Pro338His		B2R7L7|O14711	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.P338H	ENST00000317089.5	37	c.1013	CCDS10726.1	16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956822	0.73902	.	.	ENSG00000069345	ENST00000317089	T	0.70045	-0.45	5.73	5.73	0.89815	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.105435	0.64402	D	0.000002	D	0.90397	0.6994	H	0.99600	4.65	0.80722	D	1	D	0.69078	0.997	D	0.69142	0.962	D	0.94213	0.7460	10	0.87932	D	0	-24.9779	19.9704	0.97284	0.0:0.0:1.0:0.0	.	338	O60884	DNJA2_HUMAN	H	338	ENSP00000314030:P338H	ENSP00000314030:P338H	P	-	2	0	DNAJA2	45550450	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	9.865000	0.99609	2.722000	0.93159	0.650000	0.86243	CCT	DNAJA2	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000069345		0.383	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA2	HGNC	protein_coding	OTTHUMT00000256769.2		0	37	0	G			46992949	-1			no_errors	ENST00000317089	ensembl	human	known	74_37	missense	15.38	11	2	SNP	1.000	T	T	46992949	G	T	46992949	3	4	53	1	0	0	0	0	1	0	0	0	4626	1000	35	3	233	3	DNAJA2	16	46992949	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	23285709	46992949	43361804	55	13274											
DOK4	55715	genome.wustl.edu	37	chr16	57507333	57507333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgctgtccccctggctggGctttggctttagcaggatga	5	12	13	11	0	0	1	0	1	0	0	1	2	1	2	2	4	2	5	2	4	1	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr16:57507333G>T	ENST00000340099.4	-	9	1308	c.937C>A	c.(937-939)Ccc>Acc	p.P313T	DOK4_ENST00000566936.1_Missense_Mutation_p.P352T|DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000569548.1_Missense_Mutation_p.P313T	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	313					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CCCTGGCTGGGCTTTGGCTTT	0.632																																																	0													117	93	101					16																	57507333		2198	4300	6498	SO:0001583	missense	0			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"Pleckstrin homology (PH) domain containing"	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.937C>A	16.37:g.57507333G>T	ENSP00000344277:p.Pro313Thr		O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.P313T	ENST00000340099.4	37	c.937	CCDS10783.1	16	.	.	.	.	.	.	.	.	.	.	G	9.028	0.986683	0.18889	.	.	ENSG00000125170	ENST00000340099	D	0.91686	-2.89	5.4	-6.13	0.02118	.	0.724125	0.12306	N	0.480700	T	0.82001	0.4942	N	0.25647	0.755	0.21147	N	0.999775	B	0.13594	0.008	B	0.08055	0.003	T	0.66248	-0.5971	10	0.35671	T	0.21	-2.6358	8.3639	0.32374	0.4938:0.195:0.3112:0.0	.	313	Q8TEW6	DOK4_HUMAN	T	313	ENSP00000344277:P313T	ENSP00000344277:P313T	P	-	1	0	DOK4	56064834	0.984000	0.35163	0.876000	0.34364	0.993000	0.82548	0.027000	0.13621	-0.891000	0.03940	-0.136000	0.14681	CCC	DOK4	-	NULL	ENSG00000125170		0.632	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK4	HGNC	protein_coding	OTTHUMT00000257335.3		0	91	0	G			57507333	-1			no_errors	ENST00000340099	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.009	T	T	57507333	G	T	57507333	3	4	53	1	0	0	0	0	1	0	0	0	4713	1203	42	3	47	3	DOK4	16	57507333	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	10514384	57507333	32847420	56	13275											
KIAA0664	23277	genome.wustl.edu	37	chr17	2607801	2607801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggctcggccgccgccGcctccttcttcaggctctct	1	11	12	17	4	3	0	1	0	2	0	6	0	4	0	5	4	0	2	5	4	0	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:2607801G>A	ENST00000570628.2	-	2	149	c.44C>T	c.(43-45)gCg>gTg	p.A15V	CLUH_ENST00000435359.1_Missense_Mutation_p.A15V|CLUH_ENST00000538975.1_Missense_Mutation_p.A15V			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	15					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGCCGCCGCCGCCTCCTTCTT	0.622																																																	0													15	19	18					17																	2607801		1943	4119	6062	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.44C>T	17.37:g.2607801G>A	ENSP00000458986:p.Ala15Val		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP_dom	p.A15V	ENST00000570628.2	37	c.44	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	N	11.19	1.567085	0.28003	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80304	-1.36;-1.36	4.96	3.84	0.44239	.	0.488084	0.19306	N	0.117511	T	0.68952	0.3057	L	0.29908	0.895	0.29001	N	0.887459	B	0.23249	0.082	B	0.16289	0.015	T	0.56649	-0.7944	10	0.32370	T	0.25	.	11.0885	0.48102	0.0:0.0:0.2963:0.7037	.	15	O75153	K0664_HUMAN	V	15	ENSP00000388872:A15V;ENSP00000439628:A15V	ENSP00000320468:A15V	A	-	2	0	KIAA0664	2554551	0.065000	0.20965	0.221000	0.23827	0.032000	0.12392	1.551000	0.36233	0.220000	0.20860	-0.456000	0.05471	GCG	CLUH	-	NULL	ENSG00000132361		0.622	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	HGNC	protein_coding	OTTHUMT00000437807.2		0	71	0	G	NM_015229		2607801	-1			no_errors	ENST00000435359	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.915	A	A	2607801	G	A	2607801	3	1	53	1	0	0	0	0	1	0	0	0	8216	1087	38	1	3985	1	KIAA0664	17	2607801	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		2607801	78587409	57	13276											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8222388	8222388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggcccagcaggttccGgatccatctggaccccctac	7	7	10	17	1	1	0	0	0	1	0	4	2	4	2	6	4	2	2	6	4	1	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:8222388G>A	ENST00000361926.3	+	13	2207	c.2097G>A	c.(2095-2097)ccG>ccA	p.P699P	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Silent_p.P699P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	699					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGCAGGTTCCGGATCCATCTG	0.622																																																	0													79	84	82					17																	8222388		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2097G>A	17.37:g.8222388G>A			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P699	ENST00000361926.3	37	c.2097	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.622	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0	18	0	G	NM_173728		8222388	1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	silent	29.17	17	7	SNP	0.418	A	A	8222388	G	A	8222388	2	1	53	1	0	0	0	0	0	0	0	1	898	1103	39	1		1	ARHGEF15	17	8222388	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	5614587	8222388	72972822	58	13277											
ACLY	47	genome.wustl.edu	37	chr17	40027984	40027984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgatcagcttcccttcCttcttcatcttgttcacaaa	8	15	3	15	0	5	1	3	1	2	0	7	1	7	1	3	0	1	2	3	0	1	6	rs387907388		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:40027984C>A	ENST00000352035.2	-	25	3025	c.2895G>T	c.(2893-2895)aaG>aaT	p.K965N	ACLY_ENST00000588779.1_5'Flank|ACLY_ENST00000353196.1_Missense_Mutation_p.K955N|ACLY_ENST00000393896.2_Missense_Mutation_p.K955N|ACLY_ENST00000590151.1_Missense_Mutation_p.K965N|ACLY_ENST00000537919.1_Missense_Mutation_p.K694N	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	965					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCTTCCCTTCCTTCTTCATCT	0.527																																					Colon(64;807 1396 15971 30971)												0													163	139	147					17																	40027984		2203	4300	6503	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2895G>T	17.37:g.40027984C>A	ENSP00000253792:p.Lys965Asn		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.K965N	ENST00000352035.2	37	c.2895	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	c	15.08	2.728178	0.48833	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	D;D;D;D	0.89485	-1.54;-1.54;-2.52;-1.54	5.95	-0.621	0.11564	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.139591	0.64402	D	0.000005	D	0.89322	0.6682	L	0.57536	1.79	0.58432	D	0.999995	D;D;D;B;D	0.61080	0.989;0.989;0.989;0.02;0.966	P;P;P;B;P	0.57679	0.761;0.69;0.825;0.044;0.761	D	0.86718	0.1940	10	0.56958	D	0.05	.	9.0729	0.36504	0.0:0.4555:0.0:0.5445	.	694;1009;1019;955;965	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	N	965;1019;955;694;955	ENSP00000253792:K965N;ENSP00000345398:K955N;ENSP00000445349:K694N;ENSP00000377474:K955N	ENSP00000253792:K965N	K	-	3	2	ACLY	37281510	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.081000	0.30791	0.144000	0.18951	-0.215000	0.12644	AAG	ACLY	-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase	ENSG00000131473		0.527	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	-	0	95	0	C	NM_001096		40027984	-1	tier1	-	no_errors	ENST00000352035	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.998	A	A	40027984	C	A	40027984	3	1	53	1	0	0	0	0	1	0	0	0	143	680	24	3	430	3	ACLY	17	40027984	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	31805596	40027984	41167226	59	13278											
CACNA1G	8913	genome.wustl.edu	37	chr17	48696187	48696187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaggaggaggccgagCtagaggctgagctggagctg	10	4	19	8	1	0	2	0	1	0	1	0	6	0	5	2	6	3	4	2	6	2	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr17:48696187C>A	ENST00000359106.5	+	33	5599	c.5599C>A	c.(5599-5601)Cta>Ata	p.L1867I	CACNA1G_ENST00000514079.1_Missense_Mutation_p.L1874I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L1860I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L1822I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L1815I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L1833I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L1844I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L1826I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L1822I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L1849I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L1867I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L1810I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L1833I|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L1842I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L1844I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L1849I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L1833I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L1867I|CACNA1G_ENST00000352832.5_Missense_Mutation_p.L1833I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L1856I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L1867I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L1833I	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1867					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGGCCGAGCTAGAGGCTGA	0.652																																																	0													42	49	47					17																	48696187		2143	4239	6382	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5599C>A	17.37:g.48696187C>A	ENSP00000352011:p.Leu1867Ile		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L1867I	ENST00000359106.5	37	c.5599	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	16.23	3.065865	0.55539	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;T;D;D;D;D;D;D;D;T;T;T;D;T;D;D;T;D;D;T;D;T;D;D	0.97016	-4.07;-4.07;0.52;-4.06;-4.09;-4.09;-4.21;-4.16;-4.19;-4.19;0.52;0.52;0.52;-4.02;0.52;-4.09;-4.01;0.52;-4.07;-4.06;0.52;-4.09;0.52;-4.09;-4.09	4.9	3.9	0.45041	.	18.723700	0.00639	U	0.000516	D	0.97492	0.9179	L	0.46157	1.445	0.29330	N	0.866777	B;B;B;D;D;B;B;B;B;B;B;P;B;D;B;D;B;D;D;B;B;P;B;P;P	0.57257	0.133;0.095;0.046;0.979;0.978;0.293;0.163;0.053;0.293;0.053;0.397;0.538;0.095;0.978;0.163;0.978;0.1;0.969;0.978;0.053;0.209;0.901;0.093;0.822;0.51	B;B;B;D;P;B;B;B;B;B;B;B;B;P;B;P;B;P;P;B;B;P;B;P;B	0.74348	0.039;0.119;0.046;0.983;0.656;0.115;0.085;0.144;0.115;0.119;0.113;0.366;0.119;0.591;0.085;0.744;0.126;0.671;0.744;0.144;0.057;0.49;0.113;0.564;0.142	D	0.89522	0.3779	10	0.25751	T	0.34	.	13.6448	0.62275	0.0:0.9236:0.0:0.0764	.	1810;1822;1815;1849;1822;1842;1874;1833;1860;1856;1867;1844;1856;1856;1849;1856;1867;1844;1867;1833;1826;1833;1844;1867;1833	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	I	1844;1833;1833;1826;1844;1856;1822;1810;1815;1833;1867;1856;1822;1860;1833;1867;1842;1856;1874;1833;1867;1849;1849;1867;1856	ENSP00000353990:L1844I;ENSP00000339302:L1833I;ENSP00000347078:L1833I;ENSP00000409759:L1826I;ENSP00000425522:L1844I;ENSP00000426261:L1856I;ENSP00000425451:L1822I;ENSP00000422407:L1810I;ENSP00000426814:L1815I;ENSP00000427238:L1833I;ENSP00000423112:L1867I;ENSP00000420918:L1856I;ENSP00000426172:L1822I;ENSP00000423045:L1860I;ENSP00000427173:L1833I;ENSP00000426098:L1867I;ENSP00000425698:L1842I;ENSP00000426232:L1856I;ENSP00000423317:L1874I;ENSP00000350979:L1833I;ENSP00000352011:L1867I;ENSP00000414388:L1849I;ENSP00000423155:L1849I;ENSP00000422268:L1867I;ENSP00000421518:L1856I	ENSP00000339302:L1833I	L	+	1	2	CACNA1G	46051186	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.743000	0.38258	1.044000	0.40200	0.552000	0.68991	CTA	CACNA1G	-	NULL	ENSG00000006283		0.652	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0	77	0	C	NM_018896		48696187	1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	A	A	48696187	C	A	48696187	3	1	53	1	0	0	0	0	1	0	0	0	2551	796	28	3	5996	3	CACNA1G	17	48696187	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	8668203	48696187	32499023	60	13279											
TTC39C	125488	genome.wustl.edu	37	chr18	21708871	21708871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgccatgaagtggatgactCatctgttgttggattaaagt	10	15	11	5	0	2	2	1	2	1	0	2	4	2	4	1	2	1	2	1	2	3	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr18:21708871C>T	ENST00000317571.3	+	11	1678	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	TTC39C_ENST00000540918.2_Missense_Mutation_p.S174L|TTC39C_ENST00000304621.6_Missense_Mutation_p.S420L	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	481										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GTGGATGACTCATCTGTTGTT	0.393																																																	0													214	193	200					18																	21708871		2203	4300	6503	SO:0001583	missense	0			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"Tetratricopeptide (TTC) repeat domain containing"	26595	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 17"	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1442C>T	18.37:g.21708871C>T	ENSP00000323645:p.Ser481Leu		B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor	p.S481L	ENST00000317571.3	37	c.1442	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363567	0.61513	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.45276	0.9;0.9;0.9	5.81	5.81	0.92471	.	0.669582	0.15664	N	0.250729	T	0.41789	0.1174	L	0.43152	1.355	0.41453	D	0.987995	B	0.26602	0.154	B	0.31101	0.124	T	0.16364	-1.0405	10	0.27785	T	0.31	-0.2055	18.2644	0.90048	0.0:1.0:0.0:0.0	.	481	Q8N584	TT39C_HUMAN	L	420;481;174	ENSP00000306598:S420L;ENSP00000323645:S481L;ENSP00000443016:S174L	ENSP00000306598:S420L	S	+	2	0	TTC39C	19962869	0.226000	0.23696	0.944000	0.38274	0.934000	0.57294	4.357000	0.59436	2.741000	0.93983	0.655000	0.94253	TCA	TTC39C	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000168234		0.393	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	HGNC	protein_coding	OTTHUMT00000446107.1	-	0	110	0	C	NM_153211		21708871	1	tier1	-	no_errors	ENST00000317571	ensembl	human	known	74_37	missense	27.08	70	26	SNP	0.999	T	T	21708871	C	T	21708871	3	4	53	1	0	0	0	0	1	0	0	0	16758	838	29	3	1484	3	TTC39C	18	21708871	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09		21708871	56368377	61	13280											
FHOD3	80206	genome.wustl.edu	37	chr18	34092450	34092450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggctgaaggtctgacatGtttgatcaaggtgggagctg	9	11	16	5	0	2	3	1	3	1	0	2	4	2	4	0	4	1	3	0	4	2	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr18:34092450G>T	ENST00000359247.4	+	5	455	c.455G>T	c.(454-456)tGt>tTt	p.C152F	FHOD3_ENST00000445677.1_Missense_Mutation_p.C152F|FHOD3_ENST00000257209.4_Missense_Mutation_p.C152F|FHOD3_ENST00000590592.1_Missense_Mutation_p.C152F	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	152	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGTCTGACATGTTTGATCAAG	0.478																																																	0													143	124	130					18																	34092450		2203	4300	6503	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.455G>T	18.37:g.34092450G>T	ENSP00000352186:p.Cys152Phe		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.C152F	ENST00000359247.4	37	c.455		18	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518215	0.85495	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.24908	1.83;1.83;1.83	6.17	6.17	0.99709	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.80616	2.505	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.99;0.999;0.989	T	0.56944	-0.7895	10	0.87932	D	0	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	152;152;152	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	F	152	ENSP00000257209:C152F;ENSP00000352186:C152F;ENSP00000411430:C152F	ENSP00000257209:C152F	C	+	2	0	FHOD3	32346448	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	9.405000	0.97313	2.941000	0.99782	0.655000	0.94253	TGT	FHOD3	-	superfamily_ARM-type_fold	ENSG00000134775		0.478	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	-	0	87	0	G	XM_371114		34092450	1	tier1	-	no_errors	ENST00000257209	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	34092450	G	T	34092450	3	4	53	1	0	0	0	0	1	0	0	0	5905	1377	48	3	473	3	FHOD3	18	34092450	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	12383579	34092450	43984798	62	13281											
VAV1	7409	genome.wustl.edu	37	chr19	6826687	6826687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaacacctggaccgtgtgGccgcagcccgggaggacgtg	8	4	16	13	4	0	0	0	0	0	0	0	3	0	3	4	4	2	2	4	4	1	0			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr19:6826687G>T	ENST00000602142.1	+	9	974	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	VAV1_ENST00000596764.1_Missense_Mutation_p.A266S|VAV1_ENST00000599806.1_Missense_Mutation_p.A243S|VAV1_ENST00000539284.1_Missense_Mutation_p.A201S|VAV1_ENST00000304076.2_Missense_Mutation_p.A298S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	298	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGACCGTGTGGCCGCAGCCCG	0.672																																																	0													55	43	47					19																	6826687		2174	4259	6433	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.892G>T	19.37:g.6826687G>T	ENSP00000472929:p.Ala298Ser		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.A298S	ENST00000602142.1	37	c.892	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883307	0.17467	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.61158	0.13;0.13	5.26	5.26	0.73747	Dbl homology (DH) domain (5);	0.061993	0.64402	D	0.000004	T	0.32406	0.0828	N	0.04018	-0.295	0.43183	D	0.995009	B;B;B;B	0.15930	0.01;0.015;0.0;0.002	B;B;B;B	0.24541	0.023;0.054;0.009;0.013	T	0.22730	-1.0208	10	0.09338	T	0.73	.	11.4556	0.50181	0.0:0.0:0.82:0.18	.	201;298;243;298	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	S	298;201	ENSP00000302269:A298S;ENSP00000443242:A201S	ENSP00000302269:A298S	A	+	1	0	VAV1	6777687	0.811000	0.29063	0.810000	0.32431	0.329000	0.28539	1.904000	0.39868	2.465000	0.83290	0.561000	0.74099	GCC	VAV1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000141968		0.672	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	-	0	59	0	G			6826687	1	tier1	-	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.991	T	T	6826687	G	T	6826687	3	4	53	1	0	0	0	0	1	0	0	0	17180	1203	42	3	926	3	VAV1	19	6826687	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		6826687	52302296	63	13282											
DLL3	10683	genome.wustl.edu	37	chr19	39994766	39994766	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtgaacagcccggtgaAtgccgatgcctagagggctg	8	9	14	10	2	1	3	0	2	1	1	1	4	1	3	3	2	4	1	3	2	3	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr19:39994766A>G	ENST00000205143.4	+	5	715	c.708A>G	c.(706-708)gaA>gaG	p.E236E	DLL3_ENST00000356433.5_Silent_p.E236E	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	236	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCCCGGTGAATGCCGATGCC	0.642																																																	0													74	71	72					19																	39994766		2203	4300	6503	SO:0001819	synonymous_variant	0			AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"delta (Drosophila)-like 3"			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.708A>G	19.37:g.39994766A>G			E9PFG2|Q8NBS4	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E236	ENST00000205143.4	37	c.708	CCDS12538.1	19																																																																																			DLL3	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000090932		0.642	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	HGNC	protein_coding	OTTHUMT00000464958.1	-	0	53	0	A			39994766	1	tier1	-	no_errors	ENST00000205143	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.934	G	G	39994766	A	G	39994766	2	3	53	1	0	0	0	0	0	0	0	1	4581	98	4	4		4	DLL3	19	39994766	Silent	SNP	A	TCGA-L5-A43M-01A-11D-A247-09	33168079	39994766	19134217	64	13283											
ZNF544	27300	genome.wustl.edu	37	chr19	58772365	58772365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaagatcagagcaaccaGttaagggaacaccaggagaa	17	4	12	8	0	1	3	1	0	0	3	1	5	1	4	2	2	4	3	2	2	5	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr19:58772365G>T	ENST00000596652.1	+	6	627	c.393G>T	c.(391-393)caG>caT	p.Q131H	ZNF544_ENST00000599953.1_5'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q131H|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q103H|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q103H|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q103H			Q6NX49	ZN544_HUMAN	zinc finger protein 544	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAGCAACCAGTTAAGGGAAC	0.502																																																	0													97	90	92					19																	58772365		2203	4300	6503	SO:0001583	missense	0			AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"Zinc fingers, C2H2-type", "-"	16759	protein-coding gene	gene with protein product	"zinc finger protein AF020591"						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.393G>T	19.37:g.58772365G>T	ENSP00000469635:p.Gln131His		A8K6J1|Q9UEX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q131H	ENST00000596652.1	37	c.393	CCDS12973.1	19	.	.	.	.	.	.	.	.	.	.	G	4.351	0.064558	0.08388	.	.	ENSG00000198131	ENST00000269829;ENST00000415203	T;T	0.08546	3.12;3.08	3.12	-5.19	0.02832	.	.	.	.	.	T	0.03608	0.0103	N	0.19112	0.55	0.09310	N	1	B;B;B	0.13145	0.006;0.006;0.007	B;B;B	0.10450	0.005;0.005;0.0	T	0.44390	-0.9331	9	0.23302	T	0.38	.	0.8238	0.01116	0.3461:0.1506:0.3306:0.1726	.	103;103;131	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	131;103	ENSP00000269829:Q131H;ENSP00000394341:Q103H	ENSP00000269829:Q131H	Q	+	3	2	ZNF544	63464177	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.109000	0.02996	-1.047000	0.02352	CAG	ZNF544	-	NULL	ENSG00000198131		0.502	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF544	HGNC	protein_coding	OTTHUMT00000466754.1	-	0	47	0	G	NM_014480		58772365	1	tier1	-	no_errors	ENST00000269829	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.000	T	T	58772365	G	T	58772365	3	4	53	1	0	0	0	0	1	0	0	0	18025	1020	36	3	407	3	ZNF544	19	58772365	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	18777599	58772365	356618	65	13284											
RTEL1	51750	genome.wustl.edu	37	chr20	62321468	62321468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgacgcaagagcccaaCtgccctcctgggtgcgtccc	6	7	11	17	3	0	1	0	0	0	1	2	2	2	1	5	1	5	1	5	1	2	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr20:62321468C>T	ENST00000360203.5	+	25	2495	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	RTEL1_ENST00000318100.4_Silent_p.L724L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L724L|RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000370018.3_Silent_p.L724L|RTEL1_ENST00000508582.2_Silent_p.L748L					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AAGAGCCCAACTGCCCTCCTG	0.617																																																	0													92	82	85					20																	62321468		2202	4300	6502	SO:0001819	synonymous_variant	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2170C>T	20.37:g.62321468C>T				Silent	SNP	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.L724	ENST00000360203.5	37	c.2170		20																																																																																			RTEL1	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000258366		0.617	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1		0	37	0	C	NM_032957		62321468	1			no_errors	ENST00000318100	ensembl	human	known	74_37	silent	10.53	17	2	SNP	1.000	T	T	62321468	C	T	62321468	2	4	53	1	0	0	0	0	0	0	0	1	13765	564	20	3		3	RTEL1	20	62321468	Silent	SNP	C	TCGA-L5-A43M-01A-11D-A247-09		62321468	704052	66	13285											
CDC45	8318	genome.wustl.edu	37	chr22	19496146	19496146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttgccaccatgtctttGatggagagccccgagaagga	9	10	12	10	1	2	3	0	1	2	2	2	6	2	4	4	2	2	0	4	2	1	2			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr22:19496146G>A	ENST00000407835.1	+	14	1405	c.1149G>A	c.(1147-1149)ttG>ttA	p.L383L	CDC45_ENST00000263201.1_Silent_p.L383L|CDC45_ENST00000437685.2_Silent_p.L415L|CDC45_ENST00000404724.3_Silent_p.L337L			O75419	CDC45_HUMAN	cell division cycle 45	383					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CCATGTCTTTGATGGAGAGCC	0.547																																																	0													131	108	116					22																	19496146		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1149G>A	22.37:g.19496146G>A			B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	pfam_CDC45	p.L415	ENST00000407835.1	37	c.1245	CCDS13762.1	22																																																																																			CDC45	-	pfam_CDC45	ENSG00000093009		0.547	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	-	0	68	0	G	NM_003504		19496146	1	tier1	-	no_errors	ENST00000437685	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.999	A	A	19496146	G	A	19496146	2	1	53	1	0	0	0	0	0	0	0	1	3088	1281	45	3		3	CDC45	22	19496146	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		19496146	31808420	67	13286											
GGT5	2687	genome.wustl.edu	37	chr22	24622685	24622685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacaaggtggtggtacaCgttcaccctcccttcaggcc	7	10	9	15	1	3	0	2	0	1	0	4	0	4	0	3	4	2	2	3	4	3	4			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr22:24622685C>T	ENST00000327365.4	-	7	1368	c.952G>A	c.(952-954)Gtg>Atg	p.V318M	GGT5_ENST00000398292.3_Missense_Mutation_p.V318M|GGT5_ENST00000263112.7_Missense_Mutation_p.V286M|GGT5_ENST00000418439.2_Missense_Mutation_p.V241M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	318					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTGGTACACGTTCACCCTC	0.587																																																	0													142	124	130					22																	24622685		2203	4300	6503	SO:0001583	missense	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.952G>A	22.37:g.24622685C>T	ENSP00000330080:p.Val318Met		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.V318M	ENST00000327365.4	37	c.952	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	C	2.513	-0.312507	0.05422	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	3.19	-4.33	0.03677	.	0.418027	0.25411	N	0.030877	T	0.01835	0.0058	N	0.03608	-0.345	0.20307	N	0.999918	B;B;B;B;B	0.29886	0.26;0.001;0.001;0.007;0.001	B;B;B;B;B	0.22152	0.038;0.004;0.013;0.028;0.013	T	0.39078	-0.9631	10	0.32370	T	0.25	-11.4797	5.0089	0.14302	0.1594:0.3931:0.0:0.4476	.	241;286;318;318;318	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	M	318;286;233;318;241	ENSP00000330080:V318M;ENSP00000263112:V286M;ENSP00000381340:V318M;ENSP00000392146:V241M	ENSP00000263112:V286M	V	-	1	0	GGT5	22952685	0.013000	0.17824	0.463000	0.27130	0.321000	0.28281	-0.071000	0.11505	-1.198000	0.02669	-1.462000	0.01023	GTG	GGT5	-	pfam_GGT_peptidase	ENSG00000099998		0.587	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	-	0	79	0	C	NM_004121		24622685	-1	tier1	-	no_errors	ENST00000398292	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.766	T	T	24622685	C	T	24622685	3	4	53	1	0	0	0	0	1	0	0	0	6388	536	19	1	835	1	GGT5	22	24622685	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	5126539	24622685	26681881	68	13287											
CERK	64781	genome.wustl.edu	37	chr22	47103869	47103869	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgaacataccatctcCgccgacacagacgatgctgc	10	7	8	16	4	1	2	0	1	1	1	3	4	1	2	3	0	4	2	3	0	2	1	rs553735922		TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chr22:47103869C>A	ENST00000216264.8	-	6	698	c.586G>T	c.(586-588)Gga>Tga	p.G196*	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	196	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Substrate binding. {ECO:0000250}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATACCATCTCCGCCGACACAG	0.667																																																	0													35	32	33					22																	47103869		2203	4300	6503	SO:0001587	stop_gained	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.586G>T	22.37:g.47103869C>A	ENSP00000216264:p.Gly196*		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.G196*	ENST00000216264.8	37	c.586	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962364	0.92791	.	.	ENSG00000100422	ENST00000216264	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.5194	15.7995	0.78443	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	ENSP00000216264:G196X	G	-	1	0	CERK	45482533	1.000000	0.71417	0.396000	0.26296	0.042000	0.13812	6.762000	0.74950	2.330000	0.79161	0.655000	0.94253	GGA	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	ENSG00000100422		0.667	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2		0	86	0	C	NM_022766		47103869	-1			no_errors	ENST00000216264	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	A	A	47103869	C	A	47103869	4	1	53	1	0	0	0	0	0	1	0	0	3274	661	23	2	1059	2	CERK	22	47103869	Nonsense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	22481184	47103869	4200697	69	13288											
ASMT	438	genome.wustl.edu	37	chrX	1748766	1748766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggaggtctggagcGtcaacgggagaagcgtgctg	8	7	17	9	3	3	1	1	0	2	1	3	4	3	3	0	4	5	2	0	4	2	0			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:1748766G>A	ENST00000381229.4	+	5	532	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	ASMT_ENST00000509780.1_Intron|ASMT_ENST00000381233.3_Missense_Mutation_p.V166I|ASMT_ENST00000381241.3_Missense_Mutation_p.V166I			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	166			V -> I. {ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGTCTGGAGCGTCAACGGGAG	0.567													g|||	1	0.000199681	0	0	5008	,	,		19558	0		0	False		,,,				2504	0.001																0									ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	441	353	383		496,496,496	-0.5	0.5	X		383	2,8590		0,2,4294	no	missense,missense,missense	ASMT	NM_001171038.1,NM_001171039.1,NM_004043.2	29,29,29	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	166/374,166/299,166/374	1748766	2,12996	2203	4296	6499	SO:0001583	missense	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.496G>A	X.37:g.1748766G>A	ENSP00000370627:p.Val166Ile		B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.V166I	ENST00000381229.4	37	c.496		X	.	.	.	.	.	.	.	.	.	.	g	0.168	-1.074301	0.01903	0.0	2.33E-4	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.21734	1.99;1.99;2.22	1.45	-0.488	0.12056	.	0.126684	0.49305	U	0.000150	T	0.04815	0.0130	N	0.01761	-0.735	0.09310	N	1	B;B	0.17667	0.007;0.023	B;B	0.10450	0.005;0.005	T	0.39683	-0.9602	10	0.06757	T	0.87	.	4.1909	0.10421	0.7359:0.0:0.2641:0.0	.	166;166	P46597-2;P46597-3	.;.	I	166	ENSP00000370639:V166I;ENSP00000370627:V166I;ENSP00000370631:V166I	ENSP00000370627:V166I	V	+	1	0	ASMT	1708766	0.960000	0.32886	0.541000	0.28102	0.244000	0.25665	0.523000	0.22925	0.439000	0.26476	0.100000	0.15512	GTC	ASMT	-	pfam_O_MeTrfase_2,pirsf_COMT	ENSG00000196433		0.567	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0	203	0	G	NM_004043		1748766	1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	missense	14.94	131	23	SNP	0.999	A	A	1748766	G	A	1748766	3	1	53	1	0	0	0	0	1	0	0	0	1046	1145	40	1	514	1	ASMT	23	1748766	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09		1748766	153521794	70	13289											
ARSF	416	genome.wustl.edu	37	chrX	3030501	3030501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcagaactgaatcagggcagGacgtggctgaagccttgctg	10	8	14	9	1	2	3	2	2	0	1	2	4	2	4	1	3	3	3	1	3	3	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:3030501G>C	ENST00000381127.1	+	11	1898	c.1677G>C	c.(1675-1677)agG>agC	p.R559S	ARSF_ENST00000537104.1_Missense_Mutation_p.R559S|ARSF_ENST00000359361.2_Missense_Mutation_p.R559S	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	559					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCAGGGCAGGACGTGGCTGA	0.502																																																	0													87	66	73					X																	3030501		2203	4300	6503	SO:0001583	missense	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1677G>C	X.37:g.3030501G>C	ENSP00000370519:p.Arg559Ser		Q8TCC5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R559S	ENST00000381127.1	37	c.1677	CCDS14123.1	X	.	.	.	.	.	.	.	.	.	.	G	7.677	0.688161	0.14973	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.89810	-2.57;-2.57;-2.57	2.52	-5.04	0.02964	Alkaline-phosphatase-like, core domain (1);	1.994460	0.02816	N	0.124931	T	0.79305	0.4423	L	0.32530	0.975	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.61700	-0.7009	10	0.30854	T	0.27	.	0.9881	0.01451	0.2455:0.338:0.2104:0.2061	.	559	P54793	ARSF_HUMAN	S	559	ENSP00000370519:R559S;ENSP00000445594:R559S;ENSP00000352319:R559S	ENSP00000352319:R559S	R	+	3	2	ARSF	3040501	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.573000	0.05874	-1.819000	0.01216	0.411000	0.27672	AGG	ARSF	-	superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.502	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0	57	0	G			3030501	1	tier1	-	no_errors	ENST00000359361	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.000	C	C	3030501	G	C	3030501	3	2	53	1	0	0	0	0	1	0	0	0	992	1165	41	5	1715	5	ARSF	23	3030501	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	1281735	3030501	152240059	71	13290											
PRPS2	5634	genome.wustl.edu	37	chrX	12837707	12837707	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggcgaatgaagtggaccgGatggtcctggtgggcgacgt	9	7	18	7	4	0	1	0	1	0	0	1	5	1	3	2	6	0	0	2	6	3	0			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:12837707G>T	ENST00000380668.5	+	5	740	c.612G>T	c.(610-612)cgG>cgT	p.R204R	PRPS2_ENST00000398491.2_Silent_p.R207R	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	204					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						AAGTGGACCGGATGGTCCTGG	0.532																																																	0													259	227	238					X																	12837707		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"PRS II", "ribose-phosphate diphosphokinase 2"	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.612G>T	X.37:g.12837707G>T			Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.R207	ENST00000380668.5	37	c.621	CCDS14150.1	X																																																																																			PRPS2	-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	ENSG00000101911		0.532	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	-	0	76	0	G	NM_002765		12837707	1	tier1	-	no_errors	ENST00000398491	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	T	T	12837707	G	T	12837707	2	4	53	1	0	0	0	0	0	0	0	1	12622	1161	41	3		3	PRPS2	23	12837707	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	9807206	12837707	142432853	72	13291											
ZNF157	7712	genome.wustl.edu	37	chrX	47269756	47269756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgctcagaggaccatgCacaaggatgtgatgctggag	11	7	13	10	0	1	2	1	1	0	1	1	5	1	5	2	3	3	3	2	3	1	0			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:47269756C>A	ENST00000377073.3	+	2	240	c.154C>A	c.(154-156)Cac>Aac	p.H52N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGGACCATGCACAAGGATGT	0.527																																																	0													180	122	142					X																	47269756		2203	4300	6503	SO:0001583	missense	0			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"Zinc fingers, C2H2-type", "-"	12942	protein-coding gene	gene with protein product		300024	"zinc finger protein 157 (HZF22)"			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.154C>A	X.37:g.47269756C>A	ENSP00000366273:p.His52Asn		Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H52N	ENST00000377073.3	37	c.154	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962723	0.53507	.	.	ENSG00000147117	ENST00000377073	T	0.01725	4.67	2.76	1.89	0.25635	Krueppel-associated box (4);	.	.	.	.	T	0.03520	0.0101	L	0.45352	1.415	0.23376	N	0.997808	D	0.58268	0.982	P	0.54856	0.762	T	0.44922	-0.9296	9	0.87932	D	0	.	4.4173	0.11463	0.0:0.675:0.0:0.3249	.	52	P51786	ZN157_HUMAN	N	52	ENSP00000366273:H52N	ENSP00000366273:H52N	H	+	1	0	ZNF157	47154700	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	2.200000	0.42724	0.597000	0.29811	0.423000	0.28283	CAC	ZNF157	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000147117		0.527	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	-	0	198	0	C	NM_003446		47269756	1	tier1	-	no_errors	ENST00000377073	ensembl	human	known	74_37	missense	8.24	245	22	SNP	1.000	A	A	47269756	C	A	47269756	3	1	53	1	0	0	0	0	1	0	0	0	17785	710	25	3	160	3	ZNF157	23	47269756	Missense_Mutation	SNP	C	TCGA-L5-A43M-01A-11D-A247-09	34432049	47269756	108000804	73	13292											
ZNF81	347344	genome.wustl.edu	37	chrX	47775628	47775628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaaagtcttatatatGtgctgaatgtgggaaggcct	12	12	13	4	0	1	2	0	1	1	1	1	4	1	3	1	3	1	1	1	3	7	3			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:47775628G>T	ENST00000376954.1	+	6	1951	c.1583G>T	c.(1582-1584)tGt>tTt	p.C528F	ZNF81_ENST00000338637.7_Missense_Mutation_p.C528F			P51508	ZNF81_HUMAN	zinc finger protein 81	528					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCTTATATATGTGCTGAATGT	0.433																																																	0													58	57	57					X																	47775628		2146	4264	6410	SO:0001583	missense	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1583G>T	X.37:g.47775628G>T	ENSP00000366153:p.Cys528Phe		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C528F	ENST00000376954.1	37	c.1583	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271097	0.59540	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	D;D	0.85088	-1.94;-1.94	4.32	4.32	0.51571	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000494	D	0.95027	0.8390	H	0.98111	4.15	0.41567	D	0.988662	D	0.89917	1.0	D	0.97110	1.0	D	0.96486	0.9360	10	0.87932	D	0	.	13.723	0.62740	0.0:0.0:1.0:0.0	.	528	P51508	ZNF81_HUMAN	F	528	ENSP00000366153:C528F;ENSP00000341151:C528F	ENSP00000341151:C528F	C	+	2	0	ZNF81	47660572	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.894000	0.92506	2.408000	0.81797	0.544000	0.68410	TGT	ZNF81	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197779		0.433	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	-	0	71	0	G	NM_007137		47775628	1	tier1	-	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	26.83	60	22	SNP	1.000	T	T	47775628	G	T	47775628	3	4	53	1	0	0	0	0	1	0	0	0	18222	1377	48	3	1597	3	ZNF81	23	47775628	Missense_Mutation	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	505872	47775628	107494932	74	13293											
USP51	158880	genome.wustl.edu	37	chrX	55515360	55515360	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcaaagaagtttctcGaacctgggccatcagatcac	12	7	12	10	1	3	2	2	0	1	2	4	4	3	3	2	3	1	2	2	3	3	1			TCGA-L5-A43M-01A-11D-A247-09	TCGA-L5-A43M-11A-11D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5c13439-c890-4471-a0c8-f2045cad7ca1	8fe2df9d-573d-4432-b47e-a608df7c0f4f	g.chrX:55515360G>T	ENST00000500968.3	-	2	95	c.13C>A	c.(13-15)Cga>Aga	p.R5R	USP51_ENST00000586165.1_5'Flank	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	5					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GAAGTTTCTCGAACCTGGGCC	0.577																																																	0													11	8	9					X																	55515360		2132	4187	6319	SO:0001819	synonymous_variant	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.13C>A	X.37:g.55515360G>T			Q8IWJ8	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R5	ENST00000500968.3	37	c.13	CCDS14370.1	X																																																																																			USP51	-	NULL	ENSG00000247746		0.577	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2		0	45	0	G	NM_201286		55515360	-1			no_errors	ENST00000500968	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.909	T	T	55515360	G	T	55515360	2	4	53	1	0	0	0	0	0	0	0	1	17132	1066	37	2		2	USP51	23	55515360	Silent	SNP	G	TCGA-L5-A43M-01A-11D-A247-09	7739732	55515360	99755200	75	13294											
KLHL17	339451	genome.wustl.edu	37	chr1	897819	897819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagctgggtgaaacacGacgtggacgcccgcaggcag	9	5	15	12	4	0	2	0	2	0	0	1	4	1	3	2	3	2	3	2	3	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:897819G>T	ENST00000338591.3	+	5	903	c.796G>T	c.(796-798)Gac>Tac	p.D266Y		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	266	BACK.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGAAACACGACGTGGACGC	0.677																																																	0													49	49	49					1																	897819		2201	4298	6499	SO:0001583	missense	0			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.796G>T	1.37:g.897819G>T	ENSP00000343930:p.Asp266Tyr		Q5SV94	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D266Y	ENST00000338591.3	37	c.796	CCDS30550.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618937	0.66787	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	T	0.72394	-0.65	5.52	5.52	0.82312	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90390	0.6992	H	0.97682	4.055	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93510	0.6852	10	0.87932	D	0	.	19.0337	0.92969	0.0:0.0:1.0:0.0	.	266	Q6TDP4	KLH17_HUMAN	Y	266;142	ENSP00000343930:D266Y	ENSP00000343930:D266Y	D	+	1	0	KLHL17	887682	1.000000	0.71417	0.153000	0.22517	0.097000	0.18754	4.721000	0.61951	2.601000	0.87937	0.462000	0.41574	GAC	KLHL17	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000187961		0.677	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3	-	0	49	0	G	NM_198317		897819	1	tier1	-	no_errors	ENST00000338591	ensembl	human	known	74_37	missense	35.71	18	10	SNP	0.997	T	T	897819	G	T	897819	3	4	54	1	0	0	0	0	1	0	0	0	8399	1058	37	2	814	2	KLHL17	1	897819	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		897819	248352802	1	13295											
NPHP4	261734	genome.wustl.edu	37	chr1	5935119	5935119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggtaggcggcgatgacCtgtaggtcccgcaagtgctg	6	8	15	12	4	0	1	0	1	0	0	2	2	2	1	3	4	1	4	3	4	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:5935119C>A	ENST00000378156.4	-	21	3124	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	953					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGATGACCTGTAGGTCCC	0.672																																																	0													50	59	56					1																	5935119		2190	4285	6475	SO:0001583	missense	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2859G>T	1.37:g.5935119C>A	ENSP00000367398:p.Gln953His		Q8IWC0	Missense_Mutation	SNP	NULL	p.Q953H	ENST00000378156.4	37	c.2859	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	c	14.53	2.564220	0.45694	.	.	ENSG00000131697	ENST00000378156	D	0.87966	-2.32	4.88	3.95	0.45737	.	0.250550	0.33127	N	0.005249	D	0.83487	0.5265	L	0.43152	1.355	0.32498	N	0.539217	P	0.42337	0.776	B	0.42798	0.398	D	0.85336	0.1093	10	0.40728	T	0.16	.	12.6168	0.56582	0.0:0.9189:0.0:0.0811	.	953	O75161	NPHP4_HUMAN	H	953	ENSP00000367398:Q953H	ENSP00000367398:Q953H	Q	-	3	2	NPHP4	5857706	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.414000	0.44627	1.048000	0.40298	0.550000	0.68814	CAG	NPHP4	-	NULL	ENSG00000131697		0.672	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	-	0	41	0	C			5935119	-1	tier1	-	no_errors	ENST00000378156	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	A	A	5935119	C	A	5935119	3	1	54	1	0	0	0	0	1	0	0	0	10620	680	24	3	1461	3	NPHP4	1	5935119	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	5037300	5935119	243315502	2	13296											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12920049	12920049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagattcacctctgtgttCctcaggctggaacacctcca	9	10	7	15	0	3	1	2	0	1	1	5	2	5	2	5	2	1	2	5	2	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:12920049C>A	ENST00000240189.2	+	3	876	c.789C>A	c.(787-789)ttC>ttA	p.F263L		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	263					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTGTGTTCCTCAGGCTGG	0.453																																																	0																																										SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.789C>A	1.37:g.12920049C>A	ENSP00000240189:p.Phe263Leu			Missense_Mutation	SNP	NULL	p.F263L	ENST00000240189.2	37	c.789	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	8.667	0.901811	0.17760	.	.	ENSG00000120952	ENST00000240189	T	0.00724	5.78	0.842	0.842	0.18927	.	0.511690	0.19863	N	0.104382	T	0.00906	0.0030	L	0.50993	1.605	0.09310	N	1	B	0.31413	0.322	B	0.35312	0.2	T	0.46707	-0.9172	10	0.25106	T	0.35	.	5.0452	0.14480	0.0:1.0:0.0:0.0	.	263	O60811	PRAM2_HUMAN	L	263	ENSP00000240189:F263L	ENSP00000240189:F263L	F	+	3	2	PRAMEF2	12842636	0.012000	0.17670	0.030000	0.17652	0.034000	0.12701	-0.020000	0.12525	0.759000	0.33084	0.194000	0.17425	TTC	PRAMEF2	-	NULL	ENSG00000120952		0.453	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	-	0	65	0	C	NM_023014		12920049	1	tier1	-	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.037	A	A	12920049	C	A	12920049	3	1	54	1	0	0	0	0	1	0	0	0	12477	854	30	3	795	3	PRAMEF2	1	12920049	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6984930	12920049	236330572	3	13297											
KAZ	23254	genome.wustl.edu	37	chr1	15287347	15287347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaggagcaggagctaGccagagccaaagaagccttg	14	3	13	11	0	0	3	0	0	0	3	0	5	0	5	4	2	5	2	4	2	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:15287347G>T	ENST00000376030.2	+	2	688	c.394G>T	c.(394-396)Gcc>Tcc	p.A132S	KAZN_ENST00000400798.2_Missense_Mutation_p.A38S|KAZN_ENST00000400797.3_Missense_Mutation_p.A38S|KAZN_ENST00000422387.2_Missense_Mutation_p.A132S|KAZN_ENST00000503743.1_Missense_Mutation_p.A132S|KAZN_ENST00000361144.5_Missense_Mutation_p.A126S	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	132					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCAGGAGCTAGCCAGAGCCAA	0.647																																																	0													27	28	28					1																	15287347		2202	4300	6502	SO:0001583	missense	0			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"Sterile alpha motif (SAM) domain containing"	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.394G>T	1.37:g.15287347G>T	ENSP00000365198:p.Ala132Ser		B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A132S	ENST00000376030.2	37	c.394	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555840	0.27827	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000376028;ENST00000400798;ENST00000400797	T;T;T;T;T;T;T	0.77229	0.94;0.94;0.94;0.94;-1.08;-1.08;-1.08	5.72	4.8	0.61643	.	0.320649	0.33075	N	0.005319	T	0.58466	0.2124	N	0.12182	0.205	0.33261	D	0.559808	B;B;B;P	0.35328	0.119;0.037;0.372;0.495	B;B;B;B	0.30855	0.022;0.021;0.121;0.078	T	0.63355	-0.6656	10	0.10377	T	0.69	-22.6767	15.939	0.79739	0.0:0.1351:0.8649:0.0	.	132;38;126;132	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	S	132;132;132;126;38;38;38	ENSP00000365198:A132S;ENSP00000426015:A132S;ENSP00000391728:A132S;ENSP00000354727:A126S;ENSP00000365196:A38S;ENSP00000383602:A38S;ENSP00000383601:A38S	ENSP00000354727:A126S	A	+	1	0	KAZN	15159934	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.238000	0.95380	1.417000	0.47077	-0.304000	0.09214	GCC	KAZN	-	NULL	ENSG00000189337		0.647	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	-	0	23	0	G	NM_001017999		15287347	1	tier1	-	no_errors	ENST00000376030	ensembl	human	known	74_37	missense	42.86	12	9	SNP	1.000	T	T	15287347	G	T	15287347	3	4	54	1	0	0	0	0	1	0	0	0	8015	971	34	3	612	3	KAZ	1	15287347	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2367298	15287347	233963274	4	13298											
UBR4	23352	genome.wustl.edu	37	chr1	19500928	19500928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgacaagcttggagaaaAggacgtcacatgcctgacat	14	8	10	9	1	1	3	1	2	0	1	1	5	1	4	1	2	2	1	1	2	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:19500928A>G	ENST00000375254.3	-	22	2894	c.2867T>C	c.(2866-2868)cTt>cCt	p.L956P	UBR4_ENST00000375226.2_Missense_Mutation_p.L956P|UBR4_ENST00000375267.2_Missense_Mutation_p.L956P|UBR4_ENST00000375217.2_Missense_Mutation_p.L956P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	956					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTGGAGAAAAGGACGTCACA	0.413																																																	0													105	91	96					1																	19500928		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2867T>C	1.37:g.19500928A>G	ENSP00000364403:p.Leu956Pro		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L956P	ENST00000375254.3	37	c.2867	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430066	0.83776	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.32272	1.49;1.49;1.47;1.46	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.40543	1.245	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.46816	-0.9164	10	0.87932	D	0	.	15.7251	0.77751	1.0:0.0:0.0:0.0	.	956	Q5T4S7	UBR4_HUMAN	P	956;956;956;956;172	ENSP00000364403:L956P;ENSP00000364416:L956P;ENSP00000364365:L956P;ENSP00000364374:L956P	ENSP00000364365:L956P	L	-	2	0	UBR4	19373515	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.377000	0.79668	2.197000	0.70478	0.533000	0.62120	CTT	UBR4	-	NULL	ENSG00000127481		0.413	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1		0	55	0	A	NM_020765		19500928	-1			no_errors	ENST00000375267	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G	G	19500928	A	G	19500928	3	3	54	1	0	0	0	0	1	0	0	0	16953	72	3	4	13024	4	UBR4	1	19500928	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	4213581	19500928	229749693	5	13299											
SRRM1	10250	genome.wustl.edu	37	chr1	24996716	24996716	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcacctccatccccCgtccagtctcagtcaccgtc	6	7	5	23	2	2	0	2	0	1	0	7	0	5	0	8	0	1	1	8	0	0	0	rs369669439		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:24996716C>A	ENST00000323848.9	+	15	2625	c.2310C>A	c.(2308-2310)ccC>ccA	p.P770P	SRRM1_ENST00000447431.2_Silent_p.P782P|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.P779P	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	770	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTCCATCCCCCGTCCAGTCTC	0.572																																					Ovarian(68;897 1494 3282 17478)												0													116	113	114					1																	24996716		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2310C>A	1.37:g.24996716C>A			O60585|Q5VVN4	Silent	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.P782	ENST00000323848.9	37	c.2346	CCDS255.1	1																																																																																			SRRM1	-	NULL	ENSG00000133226		0.572	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	HGNC	protein_coding	OTTHUMT00000009292.2	-	0	84	0	C	NM_005839		24996716	1	tier1	-	no_errors	ENST00000447431	ensembl	human	known	74_37	silent	37.88	41	25	SNP	0.875	A	A	24996716	C	A	24996716	2	1	54	1	0	0	0	0	0	0	0	1	15215	639	23	2		2	SRRM1	1	24996716	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	5495788	24996716	224253905	6	13300											
ARID1A	8289	genome.wustl.edu	37	chr1	27057934	27057934	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagcacccccagagcCagcccccctactcacagcca	11	2	6	22	0	1	1	1	0	0	1	1	1	1	1	7	0	6	2	7	0	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:27057934C>T	ENST00000324856.7	+	3	2013	c.1642C>T	c.(1642-1644)Cag>Tag	p.Q548*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q165*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q548*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	548					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q548*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCCAGAGCCAGCCCCCCTA	0.642			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	ovary(1)											173	182	179					1																	27057934		2203	4300	6503	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1642C>T	1.37:g.27057934C>T	ENSP00000320485:p.Gln548*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q548*	ENST00000324856.7	37	c.1642	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767717	0.69878	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.44	5.44	0.79542	.	0.145657	0.47093	D	0.000260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-6.7819	14.9862	0.71351	0.0:0.858:0.142:0.0	.	.	.	.	X	548;548;165	.	ENSP00000320485:Q548X	Q	+	1	0	ARID1A	26930521	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	5.518000	0.67068	2.824000	0.97209	0.655000	0.94253	CAG	ARID1A	-	NULL	ENSG00000117713		0.642	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	65	0	C	NM_139135		27057934	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	61.54	15	24	SNP	1.000	T	T	27057934	C	T	27057934	4	4	54	1	0	0	0	0	0	1	0	0	913	595	21	3	1652	3	ARID1A	1	27057934	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2061218	27057934	222192687	7	13301											
SLC9A1	6548	genome.wustl.edu	37	chr1	27427705	27427705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttacctgagccgatgCgggcccgagacatggtgggt	6	7	16	12	3	0	2	0	1	0	1	0	4	0	2	4	4	3	0	4	4	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:27427705C>T	ENST00000263980.3	-	11	2674	c.2099G>A	c.(2098-2100)cGc>cAc	p.R700H	SLC9A1_ENST00000545949.1_Missense_Mutation_p.R361H|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	700					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TGAGCCGATGCGGGCCCGAGA	0.637																																																	0													50	51	51					1																	27427705		2203	4300	6503	SO:0001583	missense	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2099G>A	1.37:g.27427705C>T	ENSP00000263980:p.Arg700His		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R700H	ENST00000263980.3	37	c.2099	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870096	0.91587	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.53640	0.61;1.22	5.28	4.37	0.52481	.	0.169780	0.52532	N	0.000064	T	0.60157	0.2247	M	0.72894	2.215	0.54753	D	0.999986	D	0.67145	0.996	P	0.56514	0.8	T	0.61168	-0.7117	10	0.34782	T	0.22	.	13.8743	0.63643	0.0:0.9274:0.0:0.0726	.	700	P19634	SL9A1_HUMAN	H	700;204;361;121	ENSP00000263980:R700H;ENSP00000445520:R361H	ENSP00000263980:R700H	R	-	2	0	SLC9A1	27300292	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.805000	0.75191	1.480000	0.48289	0.650000	0.86243	CGC	SLC9A1	-	prints_Na/H_exchanger_1	ENSG00000090020		0.637	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	-	0	75	0	C	NM_003047		27427705	-1	tier1	-	no_errors	ENST00000263980	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	27427705	C	T	27427705	3	4	54	1	0	0	0	0	1	0	0	0	14754	768	27	1	356	1	SLC9A1	1	27427705	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	369771	27427705	221822916	8	13302											
TEKT2	27285	genome.wustl.edu	37	chr1	36551586	36551586	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaagaggtggaggtcatCgaggccaccaagaaggcctt	13	6	13	9	1	1	2	1	0	0	2	2	4	1	3	3	5	0	0	3	5	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:36551586C>A	ENST00000207457.3	+	4	559	c.432C>A	c.(430-432)atC>atA	p.I144I	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	144					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGAGGTCATCGAGGCCACCA	0.592																																																	0													87	61	70					1																	36551586		2201	4300	6501	SO:0001819	synonymous_variant	0			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.432C>A	1.37:g.36551586C>A			A6NIS6|O60638	Silent	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.I144	ENST00000207457.3	37	c.432	CCDS401.1	1																																																																																			TEKT2	-	pfam_Tektin	ENSG00000092850		0.592	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	-	0	37	0	C	NM_014466		36551586	1	tier1	-	no_errors	ENST00000207457	ensembl	human	known	74_37	silent	30.23	30	13	SNP	0.975	A	A	36551586	C	A	36551586	2	1	54	1	0	0	0	0	0	0	0	1	15800	874	31	2		2	TEKT2	1	36551586	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	9123881	36551586	212699035	9	13303											
SNIP1	79753	genome.wustl.edu	37	chr1	38003422	38003422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatttcagaagtgtccgacGactcatggagcaagacgtat	12	10	10	9	3	2	2	2	0	0	2	3	5	3	3	1	1	1	2	1	1	4	3	rs61755314		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:38003422G>A	ENST00000296215.6	-	4	1190	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L	SNIP1_ENST00000468040.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	373					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				AGTGTCCGACGACTCATGGAG	0.413																																																	0								G	LEU/SER	0,4406		0,0,2203	242	218	226		1118	6.2	1	1	dbSNP_129	226	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SNIP1	NM_024700.2	145	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	373/397	38003422	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.1118C>T	1.37:g.38003422G>A	ENSP00000296215:p.Ser373Leu		Q96SP9|Q9H9T7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S373L	ENST00000296215.6	37	c.1118	CCDS419.1	1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663225	0.47572	0.0	2.33E-4	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.46451	0.87	6.17	6.17	0.99709	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.057424	0.64402	D	0.000001	T	0.30008	0.0751	N	0.14661	0.345	0.47341	D	0.999398	B	0.31548	0.328	B	0.24155	0.051	T	0.04825	-1.0924	10	0.36615	T	0.2	-14.2013	20.8794	0.99867	0.0:0.0:1.0:0.0	rs61755314	373	Q8TAD8	SNIP1_HUMAN	L	373;357	ENSP00000296215:S373L	ENSP00000296215:S373L	S	-	2	0	SNIP1	37776009	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.110000	0.77069	2.941000	0.99782	0.655000	0.94253	TCG	SNIP1	-	superfamily_SMAD_FHA_domain	ENSG00000163877		0.413	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNIP1	HGNC	protein_coding	OTTHUMT00000012169.2	-	0	119	0	G	NM_024700		38003422	-1	tier1	rs61755314	no_errors	ENST00000296215	ensembl	human	known	74_37	missense	61.04	30	47	SNP	1.000	A	A	38003422	G	A	38003422	3	1	54	1	0	0	0	0	1	0	0	0	14893	1059	37	1	76	1	SNIP1	1	38003422	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1451836	38003422	211247199	10	13304											
ERI3	79033	genome.wustl.edu	37	chr1	44820595	44820595	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaactcgggcccatcCaagtccaggggagagtaagg	10	4	13	14	1	0	1	0	0	0	1	3	2	2	1	5	4	1	1	5	4	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:44820595C>A	ENST00000372257.2	-	1	285	c.104G>T	c.(103-105)tGg>tTg	p.W35L	ERI3_ENST00000537474.1_5'Flank|ERI3_ENST00000495828.1_5'UTR	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	35							exonuclease activity (GO:0004527)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGGCCCATCCAAGTCCAGGG	0.711																																																	0													11	15	14					1																	44820595		2163	4240	6403	SO:0001583	missense	0			AF007157	CCDS30696.1	1p34.1	2009-10-07	2009-10-07	2008-12-16	ENSG00000117419	ENSG00000117419		"Enhanced RNAi three prime mRNA exonucleases"	17276	protein-coding gene	gene with protein product	"enhanced RNAi three prime mRNA exonuclease homolog 3 (C.elegans)", "exoribonuclease 3"	609917	"prion protein interacting protein"	PRNPIP			Standard	XM_005271184		Approved	FLJ22943, PINT1	uc001clt.3	O43414	OTTHUMG00000007637	ENST00000372257.2:c.104G>T	1.37:g.44820595C>A	ENSP00000361331:p.Trp35Leu		B1AK98|Q5T2T7|Q5T2T9|Q5TG35|Q9BQA0|Q9UEB4	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.W35L	ENST00000372257.2	37	c.104	CCDS30696.1	1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040693	0.55003	.	.	ENSG00000117419	ENST00000372257;ENST00000433471;ENST00000452396;ENST00000457571	.	.	.	5.11	5.11	0.69529	.	0.113257	0.40640	N	0.001046	T	0.25717	0.0626	N	0.08118	0	0.80722	D	1	P;B	0.42518	0.782;0.043	B;B	0.37144	0.242;0.005	T	0.09400	-1.0676	9	0.15952	T	0.53	.	14.3845	0.66934	0.0:1.0:0.0:0.0	.	35;35	F6UGJ8;O43414	.;ERI3_HUMAN	L	35	.	ENSP00000361331:W35L	W	-	2	0	ERI3	44593182	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.433000	0.52834	2.538000	0.85594	0.462000	0.41574	TGG	ERI3	-	NULL	ENSG00000117419		0.711	ERI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI3	HGNC	protein_coding	OTTHUMT00000020243.1	-	0	31	0	C	NM_024066		44820595	-1	tier1	-	no_errors	ENST00000372257	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	A	A	44820595	C	A	44820595	3	1	54	1	0	0	0	0	1	0	0	0	5245	595	21	3	945	3	ERI3	1	44820595	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6817173	44820595	204430026	11	13305											
EPS15	2060	genome.wustl.edu	37	chr1	51913746	51913746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttagatggtggcaccaagGctggaggcaaggacattggc	10	8	15	8	0	1	1	0	0	1	1	1	3	1	3	1	7	0	3	1	7	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:51913746G>A	ENST00000371733.3	-	9	719	c.623C>T	c.(622-624)gCc>gTc	p.A208V	EPS15_ENST00000371730.2_Missense_Mutation_p.A208V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	208	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGGCACCAAGGCTGGAGGCAA	0.453			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											191	181	185					1																	51913746		2203	4300	6503	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.623C>T	1.37:g.51913746G>A	ENSP00000360798:p.Ala208Val		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.A208V	ENST00000371733.3	37	c.623	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330579	0.81690	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.30182	1.54;1.54	5.75	5.75	0.90469	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.000000	0.32204	N	0.006421	T	0.30854	0.0778	N	0.20357	0.565	0.80722	D	1	D;B	0.53619	0.961;0.348	P;B	0.48270	0.572;0.144	T	0.01951	-1.1241	10	0.38643	T	0.18	.	19.9525	0.97208	0.0:0.0:1.0:0.0	.	208;208	B1AUU8;P42566	.;EPS15_HUMAN	V	208	ENSP00000360795:A208V;ENSP00000360798:A208V	ENSP00000360795:A208V	A	-	2	0	EPS15	51686334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.646000	0.67916	2.719000	0.93026	0.655000	0.94253	GCC	EPS15	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000085832		0.453	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	-	0	100	0	G	NM_001981		51913746	-1	tier1	-	no_errors	ENST00000371733	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	51913746	G	A	51913746	3	1	54	1	0	0	0	0	1	0	0	0	5208	1203	42	3	2233	3	EPS15	1	51913746	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7093151	51913746	197336875	12	13306											
PODN	127435	genome.wustl.edu	37	chr1	53544109	53544109	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagctgggctgccgcgCagcctggtgctgctgcactt	3	9	14	15	2	0	0	0	0	0	0	1	0	1	0	3	2	6	6	3	2	0	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:53544109C>A	ENST00000312553.5	+	8	1078	c.1071C>A	c.(1069-1071)cgC>cgA	p.R357R	PODN_ENST00000371500.3_Silent_p.R338R|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.R215R	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	309					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCTGCCGCGCAGCCTGGTGC	0.632																																																	0													61	65	64					1																	53544109		2203	4300	6503	SO:0001819	synonymous_variant	0			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	23174	protein-coding gene	gene with protein product	"podocan proteoglycan"	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1071C>A	1.37:g.53544109C>A			B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.R357	ENST00000312553.5	37	c.1071	CCDS573.1	1																																																																																			PODN	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	ENSG00000174348		0.632	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PODN	HGNC	protein_coding	OTTHUMT00000024735.1	-	0	68	0	C	NM_153703		53544109	1	tier1	-	no_errors	ENST00000312553	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.987	A	A	53544109	C	A	53544109	2	1	54	1	0	0	0	0	0	0	0	1	12217	697	25	3		3	PODN	1	53544109	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1630363	53544109	195706512	13	13307											
C1orf177	163747	genome.wustl.edu	37	chr1	55273285	55273285	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggacacaggctgggcCaaggcccaggaagccacgcg	10	2	17	12	2	0	0	0	0	0	0	0	3	0	2	3	6	1	1	3	6	2	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:55273285C>A	ENST00000371273.3	+	3	294	c.279C>A	c.(277-279)gcC>gcA	p.A93A	C1orf177_ENST00000358193.3_Silent_p.A93A	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	93										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CAGGCTGGGCCAAGGCCCAGG	0.592																																																	0													29	31	30					1																	55273285		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.279C>A	1.37:g.55273285C>A			B7WPL2|Q8N7Y9	Silent	SNP	NULL	p.A93	ENST00000371273.3	37	c.279	CCDS44153.1	1																																																																																			C1orf177	-	NULL	ENSG00000162398		0.592	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf177	HGNC	protein_coding	OTTHUMT00000027674.1	-	0	59	0	C	NM_152607		55273285	1	tier1	-	no_errors	ENST00000371273	ensembl	human	known	74_37	silent	25.00	30	10	SNP	1.000	A	A	55273285	C	A	55273285	2	1	54	1	0	0	0	0	0	0	0	1	2024	581	21	3		3	C1orf177	1	55273285	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1729176	55273285	193977336	14	13308											
USP24	23358	genome.wustl.edu	37	chr1	55612610	55612610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcttacctctctatCtaattcacaaacatcctggc	10	13	2	16	0	4	0	1	0	3	0	6	0	5	0	4	1	2	0	4	1	4	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:55612610C>A	ENST00000294383.6	-	19	2241	c.2242G>T	c.(2242-2244)Gat>Tat	p.D748Y	USP24_ENST00000407756.1_Missense_Mutation_p.D588Y	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	748					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACCTCTCTATCTAATTCACAA	0.393																																																	0													117	110	112					1																	55612610		1859	4104	5963	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2242G>T	1.37:g.55612610C>A	ENSP00000294383:p.Asp748Tyr		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.D588Y	ENST00000294383.6	37	c.1762	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592577	0.86953	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.06294	3.32;3.35	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.62723	1.935	0.58432	D	0.999998	D	0.89917	1.0	D	0.68765	0.96	T	0.00060	-1.2162	10	0.87932	D	0	.	19.8535	0.96748	0.0:1.0:0.0:0.0	.	588	B7WPF4	.	Y	748;588	ENSP00000294383:D748Y;ENSP00000385700:D588Y	ENSP00000294383:D748Y	D	-	1	0	USP24	55385198	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.686000	0.91538	0.585000	0.79938	GAT	USP24	-	NULL	ENSG00000162402		0.393	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	40	0	C			55612610	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	A	A	55612610	C	A	55612610	3	1	54	1	0	0	0	0	1	0	0	0	17104	913	32	3	5820	3	USP24	1	55612610	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	339325	55612610	193638011	15	13309											
SLC44A5	204962	genome.wustl.edu	37	chr1	75684273	75684273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaatgcaccagcaagggcGcactgacctaatgcaatgac	13	5	11	12	2	0	2	0	2	0	0	0	3	0	2	2	1	3	4	2	1	4	1	rs148196192		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:75684273G>A	ENST00000370855.5	-	17	1544	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC44A5_ENST00000370859.3_Silent_p.C477C|SLC44A5_ENST00000535611.1_Silent_p.C347C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	477					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCAAGGGCGCACTGACCTA	0.438																																																	0								G	,	0,4406		0,0,2203	143	133	137		1431,1431	2	0.9	1	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC44A5	NM_001130058.1,NM_152697.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	477/718,477/720	75684273	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"Solute carriers"	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1431C>T	1.37:g.75684273G>A			B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	pfam_Choline_transptr-like	p.C477	ENST00000370855.5	37	c.1431	CCDS667.1	1																																																																																			SLC44A5	-	pfam_Choline_transptr-like	ENSG00000137968		0.438	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1		0	67	0	G	NM_152697		75684273	-1			no_errors	ENST00000370855	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	A	A	75684273	G	A	75684273	2	1	54	1	0	0	0	0	0	0	0	1	14684	1079	38	1		1	SLC44A5	1	75684273	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	20071663	75684273	173566348	16	13310											
LPHN2	23266	genome.wustl.edu	37	chr1	82409360	82409360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagtatattgctgcagtgGattacaatccaagagataac	15	11	8	7	0	1	1	1	0	0	1	2	3	2	2	1	1	4	3	1	1	6	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:82409360G>T	ENST00000370728.1	+	8	1750	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	LPHN2_ENST00000370721.1_Missense_Mutation_p.D373Y|LPHN2_ENST00000370715.1_Missense_Mutation_p.D369Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.D369Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.D369Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.D369Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.D369Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.D369Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.D369Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.D369Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.D369Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.D369Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.D369Y|LPHN2_ENST00000335786.5_Missense_Mutation_p.D369Y			O95490	LPHN2_HUMAN	latrophilin 2	369	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCTGCAGTGGATTACAATCC	0.403																																																	0													139	134	135					1																	82409360		2203	4299	6502	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1105G>T	1.37:g.82409360G>T	ENSP00000359763:p.Asp369Tyr		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.D369Y	ENST00000370728.1	37	c.1105		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.023981|3.023981	0.54683|0.54683	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.90261|.	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.055044|.	0.64402|.	D|.	0.000001|.	D|D	0.84620|0.84620	0.5512|0.5512	M|M	0.91818|0.91818	3.245|3.245	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.75484|.	0.986;0.971;0.986|.	D|D	0.87421|0.87421	0.2382|0.2382	10|5	0.87932|.	D|.	0|.	.|.	19.4846|19.4846	0.95024|0.95024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	369;369;369|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Y|C	373;369;369;369;369;369;369;369;369;369;369;369;369;369|236	ENSP00000359756:D373Y;ENSP00000359763:D369Y;ENSP00000359765:D369Y;ENSP00000359762:D369Y;ENSP00000359760:D369Y;ENSP00000359758:D369Y;ENSP00000353006:D369Y;ENSP00000359750:D369Y;ENSP00000359748:D369Y;ENSP00000322270:D369Y;ENSP00000359752:D369Y;ENSP00000378344:D369Y;ENSP00000271029:D369Y;ENSP00000337306:D369Y|.	ENSP00000271029:D369Y|.	D|W	+|+	1|3	0|0	LPHN2|LPHN2	82181948|82181948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.392000|9.392000	0.97252|0.97252	2.589000|2.589000	0.87451|0.87451	0.557000|0.557000	0.71058|0.71058	GAT|TGG	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000117114		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	54	0	G	NM_012302		82409360	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	T	T	82409360	G	T	82409360	3	4	54	1	0	0	0	0	1	0	0	0	8951	1174	41	3	1119	3	LPHN2	1	82409360	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6725087	82409360	166841261	17	13311											
FAM69A	388650	genome.wustl.edu	37	chr1	93316498	93316498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatcaataactccagtCttgtacttgtcacactaaaa	13	11	5	12	0	3	0	2	0	1	0	4	0	4	0	2	1	2	1	2	1	5	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:93316498C>A	ENST00000370310.4	-	3	274	c.204G>T	c.(202-204)aaG>aaT	p.K68N		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	68						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		TAACTCCAGTCTTGTACTTGT	0.343																																																	0													69	61	63					1																	93316498		1832	4083	5915	SO:0001583	missense	0			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.204G>T	1.37:g.93316498C>A	ENSP00000359333:p.Lys68Asn		Q6IRV2	Missense_Mutation	SNP	pfam_FAM69_kinase_dom	p.K68N	ENST00000370310.4	37	c.204	CCDS44173.1	1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331798	0.41297	.	.	ENSG00000154511	ENST00000370310;ENST00000401027	T	0.46819	0.86	5.81	2.84	0.33178	.	0.215281	0.48767	N	0.000169	T	0.19644	0.0472	L	0.50333	1.59	0.41869	D	0.990261	B;P;P	0.38922	0.421;0.651;0.589	B;B;B	0.33454	0.08;0.115;0.164	T	0.02705	-1.1121	10	0.38643	T	0.18	-11.6087	7.7157	0.28702	0.0:0.7101:0.1336:0.1562	.	61;68;68	B4E174;Q5T7M9;Q5T7M9-2	.;FA69A_HUMAN;.	N	68	ENSP00000359333:K68N	ENSP00000359333:K68N	K	-	3	2	FAM69A	93089086	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.527000	0.45615	0.313000	0.23062	-0.223000	0.12442	AAG	FAM69A	-	NULL	ENSG00000154511		0.343	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69A	HGNC	protein_coding	OTTHUMT00000030046.2	-	0	55	0	C	NM_001006605		93316498	-1	tier1	-	no_errors	ENST00000370310	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A	A	93316498	C	A	93316498	3	1	54	1	0	0	0	0	1	0	0	0	5624	912	32	3	1094	3	FAM69A	1	93316498	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	10907138	93316498	155934123	18	13312											
DR1	1810	genome.wustl.edu	37	chr1	93812309	93812309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtggccaacgatgctcGagagctggtggtgaactgct	7	8	16	10	3	0	2	0	1	0	1	1	4	0	2	2	4	5	3	2	4	2	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:93812309G>T	ENST00000370272.4	+	1	865	c.107G>T	c.(106-108)cGa>cTa	p.R36L	DR1_ENST00000370267.1_Missense_Mutation_p.R36L|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000451302.2_RNA	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)	36					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		AACGATGCTCGAGAGCTGGTG	0.453																																																	0													101	94	96					1																	93812309		2203	4300	6503	SO:0001583	missense	0			M97388	CCDS744.1	1p22.1	2008-02-05			ENSG00000117505	ENSG00000117505			3017	protein-coding gene	gene with protein product		601482				1339312, 9040789	Standard	NM_001938		Approved	NC2, NC2-BETA	uc001dpu.3	Q01658	OTTHUMG00000010862	ENST00000370272.4:c.107G>T	1.37:g.93812309G>T	ENSP00000359295:p.Arg36Leu			Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.R36L	ENST00000370272.4	37	c.107	CCDS744.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.073973	0.94000	.	.	ENSG00000117505	ENST00000370272;ENST00000370267	T;T	0.44083	0.93;0.93	5.76	4.85	0.62838	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.59799	-0.7386	10	0.87932	D	0	-9.8841	14.7736	0.69699	0.069:0.0:0.931:0.0	.	36	Q01658	NC2B_HUMAN	L	36	ENSP00000359295:R36L;ENSP00000359290:R36L	ENSP00000359290:R36L	R	+	2	0	DR1	93584897	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	9.564000	0.98151	1.437000	0.47472	0.655000	0.94253	CGA	DR1	-	pfam_CBFA_NFYB_domain,superfamily_Histone-fold	ENSG00000117505		0.453	DR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DR1	HGNC	protein_coding	OTTHUMT00000029976.2	-	0	44	0	G	NM_001938		93812309	1	tier1	-	no_errors	ENST00000370267	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	T	T	93812309	G	T	93812309	3	4	54	1	0	0	0	0	1	0	0	0	4766	1058	37	2	109	2	DR1	1	93812309	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	495811	93812309	155438312	19	13313											
MAGI3	260425	genome.wustl.edu	37	chr1	114226111	114226111	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcaaatgctgaggccaaAttattagagggtaagagtcg	14	9	11	7	1	1	3	1	1	0	2	2	3	1	3	2	2	1	2	2	2	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:114226111A>G	ENST00000307546.9	+	21	3996	c.3921A>G	c.(3919-3921)aaA>aaG	p.K1307K	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1332					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAGGCCAAATTATTAGAGG	0.463																																																	0													115	106	109					1																	114226111		1568	3582	5150	SO:0001819	synonymous_variant	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3921A>G	1.37:g.114226111A>G			Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.K1307	ENST00000307546.9	37	c.3921	CCDS44196.1	1																																																																																			MAGI3	-	NULL	ENSG00000081026		0.463	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1		0	30	0	A	NM_152900		114226111	1			no_errors	ENST00000307546	ensembl	human	novel	74_37	silent	15.38	11	2	SNP	0.000	G	G	114226111	A	G	114226111	2	3	54	1	0	0	0	0	0	0	0	1	9230	98	4	4		4	MAGI3	1	114226111	Silent	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	20413802	114226111	135024510	20	13314											
C1orf161	126868	genome.wustl.edu	37	chr1	116675848	116675848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgaggaaactgcacaaGtgcgtgagccagcacttcct	10	8	12	11	1	0	2	0	2	0	0	1	3	1	3	2	2	5	2	2	2	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:116675848G>T	ENST00000369500.3	+	7	1216	c.951G>T	c.(949-951)aaG>aaT	p.K317N		NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	317										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AACTGCACAAGTGCGTGAGCC	0.517																																																	0													97	82	87					1																	116675848		2203	4300	6503	SO:0001583	missense	0			AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 161"	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.951G>T	1.37:g.116675848G>T	ENSP00000358512:p.Lys317Asn		Q5TDL7	Missense_Mutation	SNP	pfam_Mab-21_dom	p.K317N	ENST00000369500.3	37	c.951	CCDS886.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111097	0.77210	.	.	ENSG00000173212	ENST00000369500	T	0.09817	2.94	5.57	4.64	0.57946	.	0.159662	0.44285	D	0.000466	T	0.17534	0.0421	M	0.76838	2.35	0.44660	D	0.997644	D	0.63880	0.993	D	0.65874	0.939	T	0.05037	-1.0910	10	0.23302	T	0.38	-33.3048	11.2421	0.48974	0.1428:0.0:0.8572:0.0	.	317	Q8N8X9	MB213_HUMAN	N	317	ENSP00000358512:K317N	ENSP00000358512:K317N	K	+	3	2	MAB21L3	116477371	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.579000	0.53900	1.460000	0.47911	0.655000	0.94253	AAG	MAB21L3	-	pfam_Mab-21_dom	ENSG00000173212		0.517	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L3	HGNC	protein_coding	OTTHUMT00000033486.1	-	0	39	0	G	NM_152367		116675848	1	tier1	-	no_errors	ENST00000369500	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	T	T	116675848	G	T	116675848	3	4	54	1	0	0	0	0	1	0	0	0	2016	1020	36	3	973	3	C1orf161	1	116675848	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2449737	116675848	132574773	21	13315											
IGSF3	3321	genome.wustl.edu	37	chr1	117156778	117156778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggggcatggcagtggtCtgcagggagtctgggatcac	6	9	18	8	0	4	0	1	0	3	0	4	2	4	2	0	6	1	3	0	6	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:117156778C>A	ENST00000369486.3	-	4	1206	c.441G>T	c.(439-441)caG>caT	p.Q147H	IGSF3_ENST00000369483.1_Missense_Mutation_p.Q147H|IGSF3_ENST00000318837.6_Missense_Mutation_p.Q147H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	147	Ig-like C2-type 2.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGGCAGTGGTCTGCAGGGAGT	0.577																																																	0													30	31	31					1																	117156778		2200	4293	6493	SO:0001583	missense	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.441G>T	1.37:g.117156778C>A	ENSP00000358498:p.Gln147His		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q147H	ENST00000369486.3	37	c.441	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243905	0.58995	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03330	3.98;3.97;3.97	5.02	4.08	0.47627	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.315661	0.34338	N	0.004051	T	0.05502	0.0145	L	0.54323	1.7	0.33775	D	0.623583	P;P	0.49358	0.916;0.923	P;P	0.56343	0.796;0.722	T	0.03157	-1.1066	10	0.56958	D	0.05	-41.8169	11.5392	0.50657	0.0:0.9107:0.0:0.0893	.	147;147	O75054;A6NJZ6	IGSF3_HUMAN;.	H	147	ENSP00000358498:Q147H;ENSP00000358495:Q147H;ENSP00000321184:Q147H	ENSP00000321184:Q147H	Q	-	3	2	IGSF3	116958301	0.203000	0.23435	0.976000	0.42696	0.985000	0.73830	-0.411000	0.07142	2.599000	0.87857	0.650000	0.86243	CAG	IGSF3	-	pfscan_Ig-like_dom	ENSG00000143061		0.577	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0	40	0	C	NM_001542		117156778	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.988	A	A	117156778	C	A	117156778	3	1	54	1	0	0	0	0	1	0	0	0	7628	912	32	3	3239	3	IGSF3	1	117156778	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	480930	117156778	132093843	22	13316											
TBX15	6913	genome.wustl.edu	37	chr1	119467305	119467305	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcattgttggtaagcttGagtttgtcaaaactgaccac	12	13	8	8	0	2	2	2	2	0	0	2	2	2	2	1	1	3	4	1	1	4	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:119467305G>T	ENST00000369429.3	-	4	666	c.657C>A	c.(655-657)ctC>ctA	p.L219L	TBX15_ENST00000207157.3_Silent_p.L113L			Q96SF7	TBX15_HUMAN	T-box 15	219					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGGTAAGCTTGAGTTTGTCAA	0.453																																																	0													160	153	156					1																	119467305		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.657C>A	1.37:g.119467305G>T			Q08E76|Q5JT54|Q5T9S7	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L113	ENST00000369429.3	37	c.339		1																																																																																			TBX15	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000092607		0.453	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	-	0	40	0	G	NM_152380		119467305	-1	tier1	-	no_errors	ENST00000207157	ensembl	human	known	74_37	silent	57.14	6	8	SNP	1.000	T	T	119467305	G	T	119467305	2	4	54	1	0	0	0	0	0	0	0	1	15699	1277	45	3		3	TBX15	1	119467305	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2310527	119467305	129783316	23	13317											
MTMR11	10903	genome.wustl.edu	37	chr1	149907008	149907008	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacggaggagctggactcgGgacaagccgctcactgaagt	10	5	16	10	3	1	1	1	1	0	0	2	6	1	6	1	5	2	2	1	5	2	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:149907008G>T	ENST00000439741.2	-	5	589	c.339C>A	c.(337-339)tcC>tcA	p.S113S	MTMR11_ENST00000369140.3_Silent_p.S41S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.S85S|MTMR11_ENST00000361405.6_Silent_p.S113S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	113							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGACTCGGGACAAGCCGC	0.547																																																	0													58	64	62					1																	149907008		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.339C>A	1.37:g.149907008G>T			B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.S113	ENST00000439741.2	37	c.339	CCDS53360.1	1																																																																																			MTMR11	-	NULL	ENSG00000014914		0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding			0	48	0	G	NM_181873		149907008	-1			no_errors	ENST00000439741	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.371	T	T	149907008	G	T	149907008	2	4	54	1	0	0	0	0	0	0	0	1	9978	1219	43	3		3	MTMR11	1	149907008	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	30439703	149907008	99343613	24	13318											
SCNM1	79005	genome.wustl.edu	37	chr1	151139496	151139496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgcaggcaagaaacatctgtCcagtaagttagggggaagac	14	7	13	7	0	1	2	0	0	1	2	2	3	2	3	1	3	2	4	1	3	5	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:151139496C>T	ENST00000368905.4	+	3	320	c.209C>T	c.(208-210)tCc>tTc	p.S70F	LYSMD1_ENST00000368908.5_5'Flank|SCNM1_ENST00000461862.1_3'UTR|LYSMD1_ENST00000440902.2_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	70					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAACATCTGTCCAGTAAGTTA	0.537																																																	0													71	65	67					1																	151139496		2203	4300	6503	SO:0001583	missense	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.209C>T	1.37:g.151139496C>T	ENSP00000357901:p.Ser70Phe		B4DWR1|Q5JR74	Missense_Mutation	SNP	NULL	p.S70F	ENST00000368905.4	37	c.209	CCDS987.1	1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676124	0.47886	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.79	4.88	0.63580	.	0.171847	0.49916	N	0.000128	T	0.11537	0.0281	N	0.14661	0.345	0.28694	N	0.90442	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.01	T	0.12553	-1.0543	9	0.27785	T	0.31	-12.1145	12.6305	0.56655	0.0:0.9199:0.0:0.0801	.	70;70	B4DWR1;Q9BWG6	.;SCNM1_HUMAN	F	70;35	.	ENSP00000357898:S35F	S	+	2	0	SCNM1	149406120	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	3.067000	0.50010	1.458000	0.47871	0.448000	0.29417	TCC	SCNM1	-	NULL	ENSG00000163156		0.537	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2	-	0	63	0	C	NM_024041		151139496	1	tier1	-	no_errors	ENST00000368905	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	T	T	151139496	C	T	151139496	3	4	54	1	0	0	0	0	1	0	0	0	13971	855	30	3	219	3	SCNM1	1	151139496	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1232488	151139496	98111125	25	13319											
FLG	2312	genome.wustl.edu	37	chr1	152284954	152284954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccatgggaggactcaGactgtttatgagtgctcacc	9	11	10	11	0	2	2	2	1	0	1	4	4	4	4	3	2	1	2	3	2	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:152284954G>T	ENST00000368799.1	-	3	2443	c.2408C>A	c.(2407-2409)tCt>tAt	p.S803Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	803	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGACTCAGACTGTTTATG	0.567									Ichthyosis																																								0													255	248	250					1																	152284954		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2408C>A	1.37:g.152284954G>T	ENSP00000357789:p.Ser803Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S803Y	ENST00000368799.1	37	c.2408	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	5.200	0.222458	0.09863	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	3.46	1.5	0.22942	.	.	.	.	.	T	0.07324	0.0185	M	0.80028	2.48	0.09310	N	1	D	0.59357	0.985	P	0.62813	0.907	T	0.15206	-1.0445	9	0.66056	D	0.02	.	4.5977	0.12338	0.1299:0.2279:0.6422:0.0	.	803	P20930	FILA_HUMAN	Y	803	ENSP00000357789:S803Y	ENSP00000357789:S803Y	S	-	2	0	FLG	150551578	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.096000	0.11059	0.176000	0.19873	0.479000	0.44913	TCT	FLG	-	prints_Filaggrin	ENSG00000143631		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	190	0	G	NM_002016		152284954	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	32.09	90	43	SNP	0.000	T	T	152284954	G	T	152284954	3	4	54	1	0	0	0	0	1	0	0	0	5944	942	33	3	9781	3	FLG	1	152284954	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1145458	152284954	96965667	26	13320											
S100A12	6283	genome.wustl.edu	37	chr1	153346380	153346380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattcttgaaagtcgacctGttcatcttgattagcatcca	11	14	7	9	1	3	2	1	2	2	0	5	4	4	2	2	0	1	2	2	0	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:153346380G>T	ENST00000368737.3	-	3	319	c.202C>A	c.(202-204)Cag>Aag	p.Q68K		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	AAGTCGACCTGTTCATCTTGA	0.423																																																	0													151	144	146					1																	153346380		2203	4300	6503	SO:0001583	missense	0			BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"S100 calcium binding proteins", "EF-hand domain containing"	10489	protein-coding gene	gene with protein product		603112	"S100 calcium-binding protein A12 (calgranulin C)", "S100 calcium binding protein A12 (calgranulin C)"			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.202C>A	1.37:g.153346380G>T	ENSP00000357726:p.Gln68Lys		P83219|Q5SY66|Q7M4R1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q68K	ENST00000368737.3	37	c.202	CCDS1037.1	1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.647867	0.29336	.	.	ENSG00000163221	ENST00000368737;ENST00000368736	T	0.05447	3.44	3.95	0.837	0.18896	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.673446	0.14247	N	0.331680	T	0.02119	0.0066	.	.	.	0.09310	N	1	P	0.41313	0.745	B	0.39379	0.298	T	0.43327	-0.9398	9	0.39692	T	0.17	.	11.6037	0.51020	0.0:0.546:0.454:0.0	.	68	P80511	S10AC_HUMAN	K	68;72	ENSP00000357726:Q68K	ENSP00000357725:Q72K	Q	-	1	0	S100A12	151613004	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.193000	0.09573	0.193000	0.20303	0.655000	0.94253	CAG	S100A12	-	pfscan_EF_hand_dom	ENSG00000163221		0.423	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A12	HGNC	protein_coding	OTTHUMT00000036795.1	-	0	95	0	G	NM_005621		153346380	-1	tier1	-	no_errors	ENST00000368737	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.000	T	T	153346380	G	T	153346380	3	4	54	1	0	0	0	0	1	0	0	0	13819	1386	48	3	80	3	S100A12	1	153346380	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1061426	153346380	95904241	27	13321											
DENND4B	9909	genome.wustl.edu	37	chr1	153905496	153905496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacggcacagggagcagctgGacagcagaatctgtgggcag	11	4	16	10	1	1	1	0	0	1	1	1	3	1	3	0	4	3	5	0	4	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:153905496G>T	ENST00000361217.4	-	22	3882	c.3464C>A	c.(3463-3465)tCc>tAc	p.S1155Y	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1155	Ser-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGCAGCTGGACAGCAGAAT	0.617																																																	0													60	62	61					1																	153905496		2130	4236	6366	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"DENN/MADD domain containing"	29044	protein-coding gene	gene with protein product			"KIAA0476"	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3464C>A	1.37:g.153905496G>T	ENSP00000354597:p.Ser1155Tyr		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S1155Y	ENST00000361217.4	37	c.3464	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413228	0.83449	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.15017	2.47;2.46	5.07	5.07	0.68467	.	0.053609	0.85682	D	0.000000	T	0.31918	0.0812	M	0.66297	2.02	0.58432	D	0.999991	D	0.69078	0.997	D	0.65573	0.936	T	0.04103	-1.0977	10	0.87932	D	0	-22.816	17.3786	0.87399	0.0:0.0:1.0:0.0	.	1155	O75064	DEN4B_HUMAN	Y	1155;1166	ENSP00000354597:S1155Y;ENSP00000357635:S1166Y	ENSP00000354597:S1155Y	S	-	2	0	DENND4B	152172120	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.268000	0.95675	2.639000	0.89480	0.455000	0.32223	TCC	DENND4B	-	NULL	ENSG00000198837		0.617	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	-	0	38	0	G	XM_375806		153905496	-1	tier1	-	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	T	T	153905496	G	T	153905496	3	4	54	1	0	0	0	0	1	0	0	0	4448	1174	41	3	1054	3	DENND4B	1	153905496	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	559116	153905496	95345125	28	13322											
KCNN3	3782	genome.wustl.edu	37	chr1	154794592	154794592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtgtgtggtaggcgatGatcaagcccaaaaggatgat	12	9	13	7	2	2	2	2	2	0	0	2	4	2	3	1	3	1	1	1	3	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:154794592G>T	ENST00000271915.4	-	2	1317	c.1002C>A	c.(1000-1002)atC>atA	p.I334I	KCNN3_ENST00000361147.4_Silent_p.I29I|KCNN3_ENST00000358505.2_Silent_p.I21I	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	339					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGTAGGCGATGATCAAGCCCA	0.547																																																	0													152	122	132					1																	154794592		2203	4300	6503	SO:0001819	synonymous_variant	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1002C>A	1.37:g.154794592G>T			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.I334	ENST00000271915.4	37	c.1002	CCDS30880.1	1																																																																																			KCNN3	-	pfam_K_chnl_Ca-activ_SK	ENSG00000143603		0.547	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	-	0	61	0	G	NM_002249		154794592	-1	tier1	-	no_errors	ENST00000271915	ensembl	human	novel	74_37	silent	18.18	36	8	SNP	1.000	T	T	154794592	G	T	154794592	2	4	54	1	0	0	0	0	0	0	0	1	8107	1280	45	3		3	KCNN3	1	154794592	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	889096	154794592	94456029	29	13323											
YY1AP1	55249	genome.wustl.edu	37	chr1	155629732	155629732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcctggggctctaatttggGttctaggccctgaaaggcat	7	13	12	9	0	2	1	0	1	2	0	3	1	3	1	2	5	0	3	2	5	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:155629732G>A	ENST00000295566.4	-	11	2130	c.2107C>T	c.(2107-2109)Ccc>Tcc	p.P703S	YY1AP1_ENST00000361831.5_Missense_Mutation_p.P646S|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P626S|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P657S|YY1AP1_ENST00000368340.5_Missense_Mutation_p.P775S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P626S|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P657S|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P795S|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P657S|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P637S|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P503S|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P646S	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	703					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCTAATTTGGGTTCTAGGCCC	0.502																																																	0													84	84	84					1																	155629732		2203	4297	6500	SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2107C>T	1.37:g.155629732G>A	ENSP00000295566:p.Pro703Ser		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.P795S	ENST00000295566.4	37	c.2383	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	g	12.78	2.040121	0.35989	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.29397	1.67;1.67;1.68;1.67;1.67;1.6;1.65;1.67;1.68;1.7;1.57;1.68	2.57	1.59	0.23543	.	0.095014	0.47093	N	0.000250	T	0.29684	0.0741	L	0.48362	1.52	0.80722	D	1	B;D;D;D;D	0.89917	0.122;1.0;0.981;1.0;1.0	B;D;D;D;D	0.91635	0.072;0.999;0.954;0.999;0.998	T	0.05500	-1.0881	10	0.48119	T	0.1	.	7.8822	0.29629	0.1298:0.0:0.8702:0.0	.	795;637;703;657;775	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	S	646;657;626;657;646;775;703;657;626;637;795;503	ENSP00000352134:P646S;ENSP00000347686:P657S;ENSP00000311138:P626S;ENSP00000316079:P657S;ENSP00000355298:P646S;ENSP00000357324:P775S;ENSP00000295566:P703S;ENSP00000357314:P657S;ENSP00000385791:P626S;ENSP00000385390:P637S;ENSP00000357323:P795S;ENSP00000437926:P503S	ENSP00000295566:P703S	P	-	1	0	YY1AP1	153896356	1.000000	0.71417	0.937000	0.37676	0.826000	0.46750	2.324000	0.43831	0.360000	0.24265	0.313000	0.20887	CCC	YY1AP1	-	NULL	ENSG00000163374		0.502	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	-	0	69	0	G	NM_139118		155629732	-1	tier1	-	no_errors	ENST00000368339	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.882	A	A	155629732	G	A	155629732	3	1	54	1	0	0	0	0	1	0	0	0	17557	1261	44	3	287	3	YY1AP1	1	155629732	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	835140	155629732	93620889	30	13324											
OR6K6	128371	genome.wustl.edu	37	chr1	158724756	158724756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccgcatgcgcacagaGgtggcctcttattctttatt	6	15	9	11	2	2	1	0	0	2	1	3	1	3	1	2	2	1	3	2	2	2	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:158724756G>T	ENST00000368144.2	+	1	247	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGCGCACAGAGGTGGCCTCTT	0.468																																																	0													208	193	198					1																	158724756		2203	4300	6503	SO:0001583	missense	0			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.151G>T	1.37:g.158724756G>T	ENSP00000357126:p.Gly51Cys		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G51C	ENST00000368144.2	37	c.151	CCDS30904.1	1	.	.	.	.	.	.	.	.	.	.	G	7.696	0.692146	0.15039	.	.	ENSG00000180433	ENST00000368144	T	0.01335	5.0	5.11	3.21	0.36854	.	0.152990	0.30565	N	0.009354	T	0.02047	0.0064	M	0.71581	2.175	0.21325	N	0.999722	D	0.63046	0.992	P	0.60345	0.873	T	0.42498	-0.9448	10	0.48119	T	0.1	-4.8215	8.9501	0.35783	0.079:0.0:0.7725:0.1485	.	51	Q8NGW6	OR6K6_HUMAN	C	51	ENSP00000357126:G51C	ENSP00000357126:G51C	G	+	1	0	OR6K6	156991380	0.000000	0.05858	0.733000	0.30861	0.022000	0.10575	0.281000	0.18810	0.705000	0.31890	0.655000	0.94253	GGT	OR6K6	-	NULL	ENSG00000180433		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	-	0	69	0	G	NM_001005184		158724756	1	tier1	-	no_errors	ENST00000368144	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.388	T	T	158724756	G	T	158724756	3	4	54	1	0	0	0	0	1	0	0	0	11243	1000	35	3	153	3	OR6K6	1	158724756	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3095024	158724756	90525865	31	13325											
CCDC19	25790	genome.wustl.edu	37	chr1	159862985	159862985	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccttgatatctccaaaGaggctctcatccacctcaga	12	11	5	13	0	3	3	2	1	2	2	6	3	4	3	4	1	1	1	4	1	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:159862985G>T	ENST00000368099.4	-	2	178	c.114C>A	c.(112-114)ctC>ctA	p.L38L	CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TATCTCCAAAGAGGCTCTCAT	0.522																																																	0													124	121	122					1																	159862985		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000368099.4:c.114C>A	1.37:g.159862985G>T				Silent	SNP	NULL	p.L38	ENST00000368099.4	37	c.114	CCDS30914.1	1																																																																																			CCDC19	-	NULL	ENSG00000213085		0.522	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	-	0	59	0	G			159862985	-1	tier1	-	no_errors	ENST00000368099	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	T	T	159862985	G	T	159862985	2	4	54	1	0	0	0	0	0	0	0	1	2802	929	33	3		3	CCDC19	1	159862985	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1138229	159862985	89387636	32	13326											
OLFML2B	25903	genome.wustl.edu	37	chr1	161953836	161953836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtagatgagccataggcCattctcgtccacagcaaagt	11	8	11	11	2	1	2	0	1	1	1	3	2	2	2	3	2	2	2	3	2	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:161953836C>A	ENST00000294794.3	-	8	2305	c.1882G>T	c.(1882-1884)Ggc>Tgc	p.G628C	OLFML2B_ENST00000367938.1_Missense_Mutation_p.G111C|OLFML2B_ENST00000367940.2_Missense_Mutation_p.G629C	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	628	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AGCCATAGGCCATTCTCGTCC	0.627																																																	0													71	62	65					1																	161953836		2203	4300	6503	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1882G>T	1.37:g.161953836C>A	ENSP00000294794:p.Gly628Cys		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.G628C	ENST00000294794.3	37	c.1882	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316293	0.81469	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.96396	-4.0;-4.0;-4.0	5.21	5.21	0.72293	Olfactomedin-like (3);	.	.	.	.	D	0.98735	0.9575	H	0.95917	3.74	0.49389	D	0.999781	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99771	1.1024	8	0.87932	D	0	.	16.2308	0.82341	0.0:1.0:0.0:0.0	.	629;628	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	C	628;629;111	ENSP00000294794:G628C;ENSP00000356917:G629C;ENSP00000356915:G111C	ENSP00000294794:G628C	G	-	1	0	OLFML2B	160220460	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.707000	0.84623	2.414000	0.81942	0.561000	0.74099	GGC	OLFML2B	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.627	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	-	0	41	0	C	NM_015441		161953836	-1	tier1	-	no_errors	ENST00000294794	ensembl	human	known	74_37	missense	46.88	17	15	SNP	1.000	A	A	161953836	C	A	161953836	3	1	54	1	0	0	0	0	1	0	0	0	10897	594	21	3	374	3	OLFML2B	1	161953836	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2090851	161953836	87296785	33	13327											
GPR161	23432	genome.wustl.edu	37	chr1	168066341	168066341	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactcgtcaaactccacGgatgaccaaccaaacagggg	14	6	9	12	2	1	2	1	2	0	0	3	3	2	3	3	3	4	0	3	3	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:168066341G>A	ENST00000367838.1	-	5	817	c.504C>T	c.(502-504)tcC>tcT	p.S168S	GPR161_ENST00000361697.2_Silent_p.S168S|GPR161_ENST00000367835.1_Silent_p.S168S|GPR161_ENST00000271357.5_Silent_p.S168S|GPR161_ENST00000367836.1_Silent_p.S36S|GPR161_ENST00000539777.1_Silent_p.S90S|GPR161_ENST00000537209.1_Silent_p.S188S|GPR161_ENST00000546300.1_Silent_p.S54S	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	168					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CAAACTCCACGGATGACCAAC	0.577																																																	0													73	58	63					1																	168066341		2203	4300	6503	SO:0001819	synonymous_variant	0			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"GPCR / Class A : Orphans"	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.504C>T	1.37:g.168066341G>A			B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S188	ENST00000367838.1	37	c.564	CCDS1268.1	1																																																																																			GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000143147		0.577	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	-	0	30	0	G	NM_007369		168066341	-1	tier1	-	no_errors	ENST00000537209	ensembl	human	known	74_37	silent	18.52	22	5	SNP	0.001	A	A	168066341	G	A	168066341	2	1	54	1	0	0	0	0	0	0	0	1	6691	1103	39	1		1	GPR161	1	168066341	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6112505	168066341	81184280	34	13328											
SMG7	9887	genome.wustl.edu	37	chr1	183519019	183519019	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgtattccctttttGaagggactccgtggtctcca	6	15	8	12	1	2	1	0	1	2	0	6	2	4	2	3	2	0	1	3	2	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:183519019G>T	ENST00000347615.2	+	19	3063	c.2944G>T	c.(2944-2946)Gaa>Taa	p.E982*	SMG7_ENST00000515829.2_Nonsense_Mutation_p.E936*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.E990*|SMG7_ENST00000367537.3_Nonsense_Mutation_p.E1015*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.E894*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.E986*	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	982	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTCCCTTTTTGAAGGGACTCC	0.433																																																	0													105	99	101					1																	183519019		2203	4300	6503	SO:0001587	stop_gained	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2944G>T	1.37:g.183519019G>T	ENSP00000340766:p.Glu982*		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Nonsense_Mutation	SNP	pfam_EST1	p.E986*	ENST00000347615.2	37	c.2956	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.048057	0.99325	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.66	5.66	0.87406	.	0.102420	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-14.9178	19.7559	0.96291	0.0:0.0:1.0:0.0	.	.	.	.	X	894;1015;990;982;986;936	.	ENSP00000340766:E982X	E	+	1	0	SMG7	181785642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.656000	0.90262	0.655000	0.94253	GAA	SMG7	-	NULL	ENSG00000116698		0.433	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	0	41	0	G	NM_014837		183519019	1	tier1	-	no_errors	ENST00000507469	ensembl	human	known	74_37	nonsense	21.74	18	5	SNP	1.000	T	T	183519019	G	T	183519019	4	4	54	1	0	0	0	0	0	1	0	0	14843	1291	45	3	3172	3	SMG7	1	183519019	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	15452678	183519019	65731602	35	13329											
HMCN1	83872	genome.wustl.edu	37	chr1	186099753	186099753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccatccagtggaacaGaaagggagtggatattgaaa	16	6	11	8	0	0	2	0	1	0	1	1	5	1	5	3	3	2	0	3	3	5	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:186099753G>T	ENST00000271588.4	+	85	13383	c.13154G>T	c.(13153-13155)aGa>aTa	p.R4385I	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4385I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4385	Ig-like C2-type 43.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTGGAACAGAAAGGGAGTG	0.478																																																	0													107	105	105					1																	186099753		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13154G>T	1.37:g.186099753G>T	ENSP00000271588:p.Arg4385Ile		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R4385I	ENST00000271588.4	37	c.13154	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559485	0.65538	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.73469	1.46;-0.75	5.48	4.57	0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.042700	0.85682	D	0.000000	T	0.82125	0.4969	M	0.64676	1.99	0.49051	D	0.999747	D	0.76494	0.999	D	0.83275	0.996	T	0.82444	-0.0454	10	0.59425	D	0.04	.	9.013	0.36153	0.2725:0.0:0.7275:0.0	.	4385	Q96RW7	HMCN1_HUMAN	I	4385	ENSP00000271588:R4385I;ENSP00000356462:R4385I	ENSP00000271588:R4385I	R	+	2	0	HMCN1	184366376	1.000000	0.71417	0.860000	0.33809	0.624000	0.37722	5.203000	0.65174	1.452000	0.47756	0.591000	0.81541	AGA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	39	0	G	NM_031935		186099753	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	T	T	186099753	G	T	186099753	3	4	54	1	0	0	0	0	1	0	0	0	7247	942	33	3	13492	3	HMCN1	1	186099753	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2580734	186099753	63150868	36	13330											
ZBTB41	360023	genome.wustl.edu	37	chr1	197128851	197128851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggcttccgactgataaaCtttgggctggtccatatatt	8	15	9	9	1	0	1	0	1	0	0	2	2	2	1	2	3	1	2	2	3	4	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:197128851C>A	ENST00000367405.4	-	10	2436	c.2368G>T	c.(2368-2370)Gtt>Ttt	p.V790F	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	790					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GACTGATAAACTTTGGGCTGG	0.413																																																	0													187	173	178					1																	197128851		2203	4300	6503	SO:0001583	missense	0				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2368G>T	1.37:g.197128851C>A	ENSP00000356375:p.Val790Phe		A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V790F	ENST00000367405.4	37	c.2368	CCDS30960.1	1	.	.	.	.	.	.	.	.	.	.	C	7.705	0.693971	0.15039	.	.	ENSG00000177888	ENST00000367405	T	0.05319	3.46	5.45	2.51	0.30379	.	0.842064	0.09836	N	0.749517	T	0.04363	0.0120	N	0.14661	0.345	0.21445	N	0.99968	B	0.21309	0.054	B	0.19946	0.027	T	0.42032	-0.9475	10	0.62326	D	0.03	.	5.8672	0.18781	0.0:0.4916:0.2405:0.268	.	790	Q5SVQ8	ZBT41_HUMAN	F	790	ENSP00000356375:V790F	ENSP00000356375:V790F	V	-	1	0	ZBTB41	195395474	0.042000	0.20092	0.985000	0.45067	0.359000	0.29487	0.023000	0.13533	0.468000	0.27243	-0.136000	0.14681	GTT	ZBTB41	-	NULL	ENSG00000177888		0.413	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB41	HGNC	protein_coding	OTTHUMT00000088249.2	-	0	172	0	C	NM_194314		197128851	-1	tier1	-	no_errors	ENST00000367405	ensembl	human	known	74_37	missense	31.93	81	38	SNP	0.106	A	A	197128851	C	A	197128851	3	1	54	1	0	0	0	0	1	0	0	0	17591	565	20	3	365	3	ZBTB41	1	197128851	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	11029098	197128851	52121770	37	13331											
PRELP	5549	genome.wustl.edu	37	chr1	203452624	203452624	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtcatcccgccccgcatCcattacctctatctccagaa	8	10	4	19	2	3	1	1	0	2	1	6	1	5	1	7	0	1	1	7	0	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:203452624C>A	ENST00000343110.2	+	2	439	c.312C>A	c.(310-312)atC>atA	p.I104I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	104					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCCCCGCATCCATTACCTCT	0.562																																																	0													88	87	87					1																	203452624		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.312C>A	1.37:g.203452624C>A			Q6FG38	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.I104	ENST00000343110.2	37	c.312	CCDS1438.1	1																																																																																			PRELP	-	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	ENSG00000188783		0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	-	0	86	0	C	NM_002725		203452624	1	tier1	-	no_errors	ENST00000343110	ensembl	human	known	74_37	silent	38.60	35	22	SNP	1.000	A	A	203452624	C	A	203452624	2	1	54	1	0	0	0	0	0	0	0	1	12515	845	30	3		3	PRELP	1	203452624	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6323773	203452624	45797997	38	13332											
KCNH1	3756	genome.wustl.edu	37	chr1	211276912	211276912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgcactttttcaatcGtgtctttatcagtcagctcc	6	17	6	12	2	4	0	3	0	1	0	6	0	5	0	2	0	2	2	2	0	2	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:211276912G>A	ENST00000271751.4	-	3	263	c.236C>T	c.(235-237)aCg>aTg	p.T79M	KCNH1_ENST00000367007.4_Missense_Mutation_p.T79M			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	79	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTTTCAATCGTGTCTTTATC	0.338																																																	0													156	145	149					1																	211276912		2201	4298	6499	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.236C>T	1.37:g.211276912G>A	ENSP00000271751:p.Thr79Met		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.T79M	ENST00000271751.4	37	c.236	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119245	0.56505	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99660	-6.32;-6.32	5.46	5.46	0.80206	PAS (3);PAS fold (1);	0.046640	0.85682	D	0.000000	D	0.98855	0.9613	M	0.64997	1.995	0.80722	D	1	P;P	0.43231	0.801;0.801	B;B	0.39617	0.305;0.305	D	0.99928	1.1303	10	0.56958	D	0.05	.	18.6768	0.91531	0.0:0.0:1.0:0.0	.	79;79	Q14CL3;O95259	.;KCNH1_HUMAN	M	79	ENSP00000271751:T79M;ENSP00000355974:T79M	ENSP00000271751:T79M	T	-	2	0	KCNH1	209343535	1.000000	0.71417	0.993000	0.49108	0.822000	0.46500	4.476000	0.60216	2.706000	0.92434	0.655000	0.94253	ACG	KCNH1	-	pfam_PAS_fold,superfamily_PAS,pfscan_PAS,tigrfam_PAS	ENSG00000143473		0.338	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1		0	65	0	G	NM_002238		211276912	-1			no_errors	ENST00000271751	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	211276912	G	A	211276912	3	1	54	1	0	0	0	0	1	0	0	0	8058	1145	40	1	2769	1	KCNH1	1	211276912	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7824288	211276912	37973709	39	13333											
ZNF678	339500	genome.wustl.edu	37	chr1	227834356	227834356	+	5'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgttcgagaactacagaAacctggtctccctgggtgag	10	10	12	9	1	1	4	0	2	1	2	3	5	1	4	2	2	3	1	2	2	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:227834356A>C	ENST00000343776.5	+	0	294				ZNF678_ENST00000608949.1_5'UTR|ZNF678_ENST00000397097.3_Missense_Mutation_p.N79H|AL592310.1_ENST00000580546.1_RNA|ZNF678_ENST00000465266.1_3'UTR	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GAACTACAGAAACCTGGTCTC	0.428																																																	0													55	52	53					1																	227834356		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.-52A>C	1.37:g.227834356A>C			Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N79H	ENST00000343776.5	37	c.235		1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.845869	0.51164	.	.	ENSG00000181450	ENST00000397097;ENST00000440339	T;T	0.02421	4.3;4.3	1.3	-0.0385	0.13880	.	.	.	.	.	T	0.00906	0.0030	N	0.00771	-1.2	0.22280	N	0.999237	.	.	.	.	.	.	T	0.45338	-0.9268	7	0.49607	T	0.09	.	2.1927	0.03903	0.4173:0.2929:0.0:0.2898	.	.	.	.	H	79	ENSP00000440403:N79H;ENSP00000394651:N79H	ENSP00000440403:N79H	N	+	1	0	ZNF678	225900979	0.000000	0.05858	0.834000	0.33040	0.803000	0.45373	0.403000	0.20982	-0.032000	0.13758	0.334000	0.21626	AAC	ZNF678	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000181450		0.428	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	-	0	100	0	A	NM_178549		227834356	1	tier1	-	no_errors	ENST00000397097	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.938	C	C	227834356	A	C	227834356	1	2	54	0	1	0	0	0	0	0	0	0	18133	14	1	4		4	ZNF678	1	227834356	5'UTR	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	16557444	227834356	21416265	40	13334											
OBSCN	84033	genome.wustl.edu	37	chr1	228467014	228467014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagacggtgttgcaggctgGggggaacgtgggcctggagc	7	6	21	7	2	0	1	0	0	0	1	0	4	0	3	1	7	3	3	1	7	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:228467014G>T	ENST00000422127.1	+	27	7309	c.7265G>T	c.(7264-7266)gGg>gTg	p.G2422V	OBSCN_ENST00000359599.6_Missense_Mutation_p.G1269V|OBSCN_ENST00000284548.11_Missense_Mutation_p.G2422V|OBSCN_ENST00000570156.2_Missense_Mutation_p.G2851V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2422					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTGCAGGCTGGGGGGAACGTG	0.662																																																	0													63	73	70					1																	228467014		2101	4216	6317	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7265G>T	1.37:g.228467014G>T	ENSP00000409493:p.Gly2422Val		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.G2422V	ENST00000422127.1	37	c.7265	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112280	0.37242	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.48522	0.81;0.81;0.81	4.4	4.4	0.53042	Immunoglobulin-like fold (1);	0.081627	0.51477	D	0.000085	T	0.68522	0.3010	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.991	D;D;P	0.76071	0.987;0.976;0.785	T	0.71676	-0.4521	10	0.48119	T	0.1	.	17.3234	0.87241	0.0:0.0:1.0:0.0	.	2422;2422;2422	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	V	2422;2422;1269;121	ENSP00000284548:G2422V;ENSP00000409493:G2422V;ENSP00000352613:G1269V	ENSP00000284548:G2422V	G	+	2	0	OBSCN	226533637	1.000000	0.71417	0.121000	0.21740	0.008000	0.06430	5.267000	0.65530	2.176000	0.68965	0.555000	0.69702	GGG	OBSCN	-	NULL	ENSG00000154358		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	108	0	G	NM_052843		228467014	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	17.86	69	15	SNP	0.735	T	T	228467014	G	T	228467014	3	4	54	1	0	0	0	0	1	0	0	0	10851	1232	43	3	7367	3	OBSCN	1	228467014	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	632658	228467014	20783607	41	13335											
OBSCN	84033	genome.wustl.edu	37	chr1	228474500	228474500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagcgtcttctcccgggagCtcacagatgccaccatcaca	10	7	8	16	2	4	1	2	0	2	1	5	2	4	2	3	1	3	1	3	1	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:228474500C>T	ENST00000422127.1	+	35	9348	c.9304C>T	c.(9304-9306)Ctc>Ttc	p.L3102F	OBSCN_ENST00000359599.6_Missense_Mutation_p.L1949F|OBSCN_ENST00000284548.11_Missense_Mutation_p.L3102F|OBSCN_ENST00000570156.2_Missense_Mutation_p.L3531F|OBSCN_ENST00000366709.4_Missense_Mutation_p.L221F|OBSCN_ENST00000366707.4_Missense_Mutation_p.L221F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3102	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCCGGGAGCTCACAGATGC	0.607																																																	0													62	72	68					1																	228474500		2098	4229	6327	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9304C>T	1.37:g.228474500C>T	ENSP00000409493:p.Leu3102Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.L3102F	ENST00000422127.1	37	c.9304	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115540	0.77323	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.87083	0.6089	M	0.92970	3.365	0.48135	D	0.999594	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.991	D	0.87244	0.2268	10	0.29301	T	0.29	.	17.0189	0.86428	0.0:1.0:0.0:0.0	.	3102;3102	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	F	3102;3102;221;221;1949	ENSP00000284548:L3102F;ENSP00000409493:L3102F;ENSP00000355668:L221F;ENSP00000355670:L221F;ENSP00000352613:L1949F	ENSP00000284548:L3102F	L	+	1	0	OBSCN	226541123	1.000000	0.71417	0.919000	0.36401	0.344000	0.29017	3.567000	0.53813	2.480000	0.83734	0.484000	0.47621	CTC	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000154358		0.607	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	26	0	C	NM_052843		228474500	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.993	T	T	228474500	C	T	228474500	3	4	54	1	0	0	0	0	1	0	0	0	10851	797	28	3	9438	3	OBSCN	1	228474500	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7486	228474500	20776121	42	13336											
NID1	4811	genome.wustl.edu	37	chr1	236154248	236154248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttccctccaggggcaggcGctcaatcttcccagtctggg	6	10	11	14	1	3	0	1	0	2	0	6	0	6	0	3	4	0	2	3	4	1	2	rs369274245		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:236154248G>A	ENST00000264187.6	-	14	2948	c.2866C>T	c.(2866-2868)Cgc>Tgc	p.R956C	NID1_ENST00000366595.3_Missense_Mutation_p.R823C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	956					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AGGGGCAGGCGCTCAATCTTC	0.582																																																	0								G	CYS/ARG	0,4406		0,0,2203	102	95	98		2866	4.2	0.4	1		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	NID1	NM_002508.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	956/1248	236154248	1,13005	2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2866C>T	1.37:g.236154248G>A	ENSP00000264187:p.Arg956Cys		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R956C	ENST00000264187.6	37	c.2866	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924461	0.73213	0.0	1.16E-4	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.32272	1.46;1.46	5.1	4.17	0.49024	Six-bladed beta-propeller, TolB-like (1);	0.342797	0.33854	N	0.004481	T	0.39835	0.1093	L	0.54323	1.7	0.40273	D	0.978311	D;D	0.65815	0.995;0.995	P;P	0.50314	0.585;0.637	T	0.40059	-0.9583	10	0.52906	T	0.07	.	15.3464	0.74340	0.0:0.0:0.8595:0.1405	.	823;956	P14543-2;P14543	.;NID1_HUMAN	C	956;823	ENSP00000264187:R956C;ENSP00000355554:R823C	ENSP00000264187:R956C	R	-	1	0	NID1	234220871	1.000000	0.71417	0.375000	0.26029	0.956000	0.61745	4.178000	0.58284	1.265000	0.44215	0.491000	0.48974	CGC	NID1	-	NULL	ENSG00000116962		0.582	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2		0	65	0	G	NM_002508		236154248	-1			no_errors	ENST00000264187	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.988	A	A	236154248	G	A	236154248	3	1	54	1	0	0	0	0	1	0	0	0	10453	1087	38	1	905	1	NID1	1	236154248	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7679748	236154248	13096373	43	13337											
RYR2	6262	genome.wustl.edu	37	chr1	237666611	237666611	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgctttctgcttggagggCgacatggagaattcaaattt	10	13	11	7	2	2	1	1	0	1	1	2	4	2	2	0	3	2	2	0	3	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:237666611C>T	ENST00000366574.2	+	22	2736	c.2419C>T	c.(2419-2421)Cga>Tga	p.R807*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R805*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R791*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	807	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTGGAGGGCGACATGGAGA	0.403																																																	0													67	63	64					1																	237666611		1905	4115	6020	SO:0001587	stop_gained	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2419C>T	1.37:g.237666611C>T	ENSP00000355533:p.Arg807*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R805*	ENST00000366574.2	37	c.2413	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.491584	0.98834	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.73	0.569	0.17340	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6868	0.85310	0.3242:0.6758:0.0:0.0	.	.	.	.	X	807;805;791	.	ENSP00000353174:R805X	R	+	1	2	RYR2	235733234	0.997000	0.39634	0.997000	0.53966	0.978000	0.69477	3.518000	0.53451	0.242000	0.21303	0.655000	0.94253	CGA	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY	ENSG00000198626		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	45	0	C	NM_001035		237666611	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	nonsense	27.27	24	9	SNP	0.998	T	T	237666611	C	T	237666611	4	4	54	1	0	0	0	0	0	1	0	0	13814	760	27	1	2505	1	RYR2	1	237666611	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1512363	237666611	11584010	44	13338											
OR2G2	81470	genome.wustl.edu	37	chr1	247752501	247752501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtttgtttctctcttCtacactgtggtaacccgcat	7	15	8	11	1	3	0	0	0	3	0	4	0	3	0	1	2	2	5	1	2	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:247752501C>A	ENST00000320065.1	+	1	840	c.840C>A	c.(838-840)ttC>ttA	p.F280L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTCTCTCTTCTACACTGTGG	0.463																																																	0													139	137	138					1																	247752501		2203	4300	6503	SO:0001583	missense	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"GPCR / Class A : Olfactory receptors"	15007	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily G, member 2", "olfactory receptor, family 2, subfamily G, member 2 pseudogene"				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.840C>A	1.37:g.247752501C>A	ENSP00000326349:p.Phe280Leu		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F280L	ENST00000320065.1	37	c.840	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492660	0.44352	.	.	ENSG00000177489	ENST00000320065	T	0.00032	8.88	4.29	1.3	0.21679	GPCR, rhodopsin-like superfamily (1);	0.186497	0.25427	U	0.030760	T	0.00144	0.0004	L	0.42008	1.315	0.26315	N	0.977766	B	0.28350	0.208	B	0.33690	0.168	T	0.27365	-1.0076	10	0.66056	D	0.02	.	3.6645	0.08250	0.1719:0.5346:0.0:0.2934	.	280	Q8NGZ5	OR2G2_HUMAN	L	280	ENSP00000326349:F280L	ENSP00000326349:F280L	F	+	3	2	OR2G2	245819124	0.000000	0.05858	0.999000	0.59377	0.954000	0.61252	-1.963000	0.01513	0.447000	0.26695	0.591000	0.81541	TTC	OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177489		0.463	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	-	0	147	0	C			247752501	1	tier1	-	no_errors	ENST00000320065	ensembl	human	known	74_37	missense	40.51	47	32	SNP	0.863	A	A	247752501	C	A	247752501	3	1	54	1	0	0	0	0	1	0	0	0	11037	912	32	3	842	3	OR2G2	1	247752501	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	10085890	247752501	1498120	45	13339											
OR11L1	391189	genome.wustl.edu	37	chr1	248005050	248005050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagtcgcaggccctggCtcaccacggtgatgatgaca	9	7	13	12	2	1	3	1	3	0	0	2	3	1	3	2	3	1	3	2	3	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:248005050C>A	ENST00000355784.2	-	1	204	c.149G>T	c.(148-150)aGc>aTc	p.S50I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	50						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGGCCCTGGCTCACCACGGT	0.532																																																	0													73	64	67					1																	248005050		2203	4300	6503	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.149G>T	1.37:g.248005050C>A	ENSP00000348033:p.Ser50Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S50I	ENST00000355784.2	37	c.149	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.264337	0.01433	.	.	ENSG00000197591	ENST00000355784	T	0.01076	5.37	4.2	1.29	0.21616	GPCR, rhodopsin-like superfamily (1);	0.162929	0.28482	U	0.015200	T	0.00754	0.0025	N	0.21240	0.645	0.09310	N	1	B	0.22211	0.066	B	0.17098	0.017	T	0.48570	-0.9024	10	0.20519	T	0.43	.	1.9808	0.03426	0.1389:0.4685:0.1359:0.2567	.	50	Q8NGX0	O11L1_HUMAN	I	50	ENSP00000348033:S50I	ENSP00000348033:S50I	S	-	2	0	OR11L1	246071673	0.000000	0.05858	0.374000	0.26016	0.067000	0.16453	-1.188000	0.03064	0.529000	0.28599	0.543000	0.68304	AGC	OR11L1	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197591		0.532	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	-	0	53	0	C	NM_001001959		248005050	-1	tier1	-	no_errors	ENST00000355784	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.000	A	A	248005050	C	A	248005050	3	1	54	1	0	0	0	0	1	0	0	0	10969	797	28	3	823	3	OR11L1	1	248005050	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	252549	248005050	1245571	46	13340											
OR2M2	391194	genome.wustl.edu	37	chr1	248344020	248344020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgacctgttcctctcacCtcatggtggtgggaatgtac	7	12	10	12	1	3	0	3	0	1	0	5	2	4	1	3	3	1	2	3	3	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr1:248344020C>A	ENST00000359682.2	+	1	733	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCCTCTCACCTCATGGTGGT	0.483																																																	0													222	199	207					1																	248344020		2203	4300	6503	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.733C>A	1.37:g.248344020C>A	ENSP00000352710:p.Leu245Ile		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L245I	ENST00000359682.2	37	c.733	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	c	12.72	2.021934	0.35701	.	.	ENSG00000198601	ENST00000359682	T	0.43294	0.95	2.03	1.02	0.19986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.24160	U	0.040984	T	0.41696	0.1170	L	0.56199	1.76	0.21499	N	0.999667	P	0.44195	0.828	P	0.50934	0.654	T	0.20672	-1.0268	10	0.45353	T	0.12	.	4.1007	0.10012	0.232:0.6338:0.0:0.1342	.	245	Q96R28	OR2M2_HUMAN	I	245	ENSP00000352710:L245I	ENSP00000352710:L245I	L	+	1	0	OR2M2	246410643	0.003000	0.15002	0.003000	0.11579	0.004000	0.04260	-0.077000	0.11394	0.171000	0.19730	0.454000	0.30748	CTC	OR2M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000198601		0.483	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0	171	0	C	NM_001004688		248344020	1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	19.29	113	27	SNP	0.935	A	A	248344020	C	A	248344020	3	1	54	1	0	0	0	0	1	0	0	0	11049	681	24	3	735	3	OR2M2	1	248344020	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	338970	248344020	906601	47	13341											
KCNS3	3790	genome.wustl.edu	37	chr2	18112842	18112842	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctaagcttatcgctatCtcctccttgagcgtggtgct	5	14	9	13	3	1	1	0	1	1	0	5	1	3	1	3	1	3	4	3	1	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:18112842C>A	ENST00000403915.1	+	3	1018	c.567C>A	c.(565-567)atC>atA	p.I189I	KCNS3_ENST00000304101.4_Silent_p.I189I|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	189					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCGCTATCTCCTCCTTGA	0.527																																																	0													71	70	71					2																	18112842		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.567C>A	2.37:g.18112842C>A			D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.I189	ENST00000403915.1	37	c.567	CCDS1692.1	2																																																																																			KCNS3	-	prints_K_chnl	ENSG00000170745		0.527	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1	-	0	40	0	C	NM_002252		18112842	1	tier1	-	no_errors	ENST00000304101	ensembl	human	known	74_37	silent	26.92	38	14	SNP	1.000	A	A	18112842	C	A	18112842	2	1	54	1	0	0	0	0	0	0	0	1	8117	903	32	3		3	KCNS3	2	18112842	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		18112842	225086531	48	13342											
RASGRP3	25780	genome.wustl.edu	37	chr2	33740275	33740275	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgcattgagatgtttggTacgagccttttctcctttca	7	17	8	9	1	2	1	1	1	1	1	3	3	2	1	2	1	3	3	2	1	1	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:33740275T>A	ENST00000403687.3	+	3	810		c.e3+2		RASGRP3_ENST00000402538.3_Splice_Site|RASGRP3_ENST00000407811.1_Splice_Site	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)						MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGATGTTTGGTACGAGCCTTT	0.433																																																	0													261	241	247					2																	33740275		1963	4146	6109	SO:0001630	splice_region_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.70+2T>A	2.37:g.33740275T>A			D6W583|O94931|Q53SD7	Splice_Site	SNP	-	e1+2	ENST00000403687.3	37	c.70+2	CCDS46256.1	2	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012616	0.54468	.	.	ENSG00000152689	ENST00000402538;ENST00000437184;ENST00000403687;ENST00000442390;ENST00000425210;ENST00000444784;ENST00000423159;ENST00000407811	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8249	0.78690	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASGRP3	33593779	1.000000	0.71417	0.995000	0.50966	0.508000	0.34012	7.139000	0.77314	2.194000	0.70268	0.533000	0.62120	.	RASGRP3	-	-	ENSG00000152689		0.433	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	-	0	80	0	T	NM_015376	Intron	33740275	1	tier1	-	no_errors	ENST00000402538	ensembl	human	known	74_37	splice_site	33.82	44	23	SNP	1.000	A	A	33740275	T	A	33740275	5	1	54	1	0	0	0	0	0	0	1	0	13121	1652	57	5	74	5	RASGRP3	2	33740275	Splice_Site	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	15627433	33740275	209459098	49	13343											
RASGRP3	25780	genome.wustl.edu	37	chr2	33745725	33745725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactaggatatgaaaaacaCgtcagcctcatcgacatatc	16	8	6	11	2	2	1	2	1	0	0	4	3	2	2	1	1	3	0	1	1	6	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:33745725C>T	ENST00000403687.3	+	6	1082	c.342C>T	c.(340-342)caC>caT	p.H114H	RASGRP3_ENST00000402538.3_Silent_p.H114H|RASGRP3_ENST00000407811.1_Silent_p.H114H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	114	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)	p.H114H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGAAAAACACGTCAGCCTCA	0.448																																																	1	Substitution - coding silent(1)	prostate(1)											211	204	206					2																	33745725		1986	4157	6143	SO:0001819	synonymous_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.342C>T	2.37:g.33745725C>T			D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.H114	ENST00000403687.3	37	c.342	CCDS46256.1	2																																																																																			RASGRP3	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000152689		0.448	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2		0	55	0	C	NM_015376		33745725	1			no_errors	ENST00000402538	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.327	T	T	33745725	C	T	33745725	2	4	54	1	0	0	0	0	0	0	0	1	13121	535	19	1		1	RASGRP3	2	33745725	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	5450	33745725	209453648	50	13344											
MAP4K3	8491	genome.wustl.edu	37	chr2	39477812	39477812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaattgctatttgctgtggGgttatcagttggcctacttt	7	17	10	7	0	1	0	1	0	0	0	1	0	1	0	1	3	3	4	1	3	4	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:39477812G>A	ENST00000263881.3	-	34	2956	c.2632C>T	c.(2632-2634)Ccc>Tcc	p.P878S	MAP4K3_ENST00000536018.1_Missense_Mutation_p.P431S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P794S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P857S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	878					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTTGCTGTGGGGTTATCAGTT	0.363																																																	0													141	120	127					2																	39477812		2203	4300	6503	SO:0001583	missense	0			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2632C>T	2.37:g.39477812G>A	ENSP00000263881:p.Pro878Ser		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.P878S	ENST00000263881.3	37	c.2632	CCDS1803.1	2	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680217	0.68042	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.72835	-0.69;-0.53;-0.68;2.24	5.4	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.77519	0.4142	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.78314	0.991;0.96	T	0.77859	-0.2431	10	0.45353	T	0.12	.	14.4503	0.67379	0.0706:0.0:0.9294:0.0	.	857;878	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	878;794;857;431	ENSP00000263881:P878S;ENSP00000416958:P794S;ENSP00000345434:P857S;ENSP00000440580:P431S	ENSP00000263881:P878S	P	-	1	0	MAP4K3	39331316	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.062000	0.93920	1.521000	0.48983	0.591000	0.81541	CCC	MAP4K3	-	NULL	ENSG00000011566		0.363	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K3	HGNC	protein_coding	OTTHUMT00000219966.2	-	0	52	0	G	NM_003618		39477812	-1	tier1	-	no_errors	ENST00000263881	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	A	A	39477812	G	A	39477812	3	1	54	1	0	0	0	0	1	0	0	0	9299	1232	43	3	56	3	MAP4K3	2	39477812	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	5732087	39477812	203721561	51	13345											
LHCGR	3973	genome.wustl.edu	37	chr2	48915873	48915873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcatagcccataatatCttcacagggattaaaagcat	16	10	7	8	0	3	0	2	0	1	0	3	2	3	1	1	1	2	1	1	1	6	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:48915873C>A	ENST00000294954.7	-	11	1084	c.1063G>T	c.(1063-1065)Gat>Tat	p.D355Y	LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.D293Y|LHCGR_ENST00000405626.1_Missense_Mutation_p.D328Y|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	355					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCCATAATATCTTCACAGGGA	0.443																																																	0													134	135	135					2																	48915873		2203	4300	6503	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1063G>T	2.37:g.48915873C>A	ENSP00000294954:p.Asp355Tyr		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.D355Y	ENST00000294954.7	37	c.1063	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127468	0.77549	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	D;D;D	0.85773	-2.03;-2.03;-2.03	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92670	0.6149	9	.	.	.	.	19.2939	0.94114	0.0:1.0:0.0:0.0	.	355	P22888	LSHR_HUMAN	Y	293;355;328	ENSP00000344301:D293Y;ENSP00000294954:D355Y;ENSP00000386033:D328Y	.	D	-	1	0	LHCGR	48769377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.925000	0.63425	2.791000	0.96007	0.655000	0.94253	GAT	LHCGR	-	prints_Gphrmn_rcpt_fam	ENSG00000138039		0.443	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0	37	0	C	NM_000233.3		48915873	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A	A	48915873	C	A	48915873	3	1	54	1	0	0	0	0	1	0	0	0	8791	913	32	3	1040	3	LHCGR	2	48915873	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	9438061	48915873	194283500	52	13346											
CCDC85A	114800	genome.wustl.edu	37	chr2	56570088	56570088	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaatcgcatgctgcccCaggtgggtgacttccagaag	12	7	12	10	1	0	3	0	1	0	2	2	3	1	3	3	2	2	2	3	2	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:56570088C>T	ENST00000407595.2	+	3	1817	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	439										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATGCTGCCCCAGGTGGGTGA	0.393																																																	0													53	56	55					2																	56570088		1891	4109	6000	SO:0001587	stop_gained	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1315C>T	2.37:g.56570088C>T	ENSP00000384040:p.Gln439*			Nonsense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.Q439*	ENST00000407595.2	37	c.1315	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	C	40	7.968282	0.98588	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.75	5.75	0.90469	.	0.269483	0.27327	N	0.019862	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-34.9482	17.7003	0.88292	0.0:1.0:0.0:0.0	.	.	.	.	X	439;28	.	ENSP00000384040:Q439X	Q	+	1	0	CCDC85A	56423592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.964000	0.63701	2.718000	0.92993	0.591000	0.81541	CAG	CCDC85A	-	NULL	ENSG00000055813		0.393	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1	-	0	46	0	C			56570088	1	tier1	-	no_errors	ENST00000407595	ensembl	human	known	74_37	nonsense	37.93	18	11	SNP	1.000	T	T	56570088	C	T	56570088	4	4	54	1	0	0	0	0	0	1	0	0	2866	595	21	3	1325	3	CCDC85A	2	56570088	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7654215	56570088	186629285	53	13347											
CCT7	10574	genome.wustl.edu	37	chr2	73476151	73476151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgttgatgctgagtggaaCattctctatgacaagttaga	12	14	10	5	0	1	4	0	3	1	1	2	5	1	5	0	1	2	3	0	1	4	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:73476151C>T	ENST00000258091.5	+	8	957	c.816C>T	c.(814-816)aaC>aaT	p.N272N	CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Silent_p.N172N|CCT7_ENST00000540468.1_Silent_p.N185N|CCT7_ENST00000538797.1_Silent_p.N144N|CCT7_ENST00000398422.2_Silent_p.N68N|CCT7_ENST00000539919.1_Silent_p.N228N	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	272					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CTGAGTGGAACATTCTCTATG	0.448																																																	0													103	95	98					2																	73476151		1924	4130	6054	SO:0001819	synonymous_variant	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.816C>T	2.37:g.73476151C>T			A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.N272	ENST00000258091.5	37	c.816	CCDS46336.1	2																																																																																			CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_eta	ENSG00000135624		0.448	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	-	0	28	0	C			73476151	1	tier1	-	no_errors	ENST00000258091	ensembl	human	known	74_37	silent	36.67	19	11	SNP	1.000	T	T	73476151	C	T	73476151	2	4	54	1	0	0	0	0	0	0	0	1	2966	477	17	3		3	CCT7	2	73476151	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	16906063	73476151	169723222	54	13348											
GPR17	2840	genome.wustl.edu	37	chr2	128408921	128408921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtggccttcaccttcccGttcatcaccacggtcacctg	6	10	8	17	2	4	0	4	0	0	0	5	0	5	0	5	2	0	2	5	2	0	3	rs367931492		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:128408921G>A	ENST00000272644.3	+	3	770	c.696G>A	c.(694-696)ccG>ccA	p.P232P	LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000393018.3_Silent_p.P232P|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409254.1_5'Flank|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000544369.1_Silent_p.P232P	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	232					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCACCTTCCCGTTCATCACCA	0.637																																																	0								G	,,,,,,,	0,4406		0,0,2203	140	122	128		,,,696,612,612,696,	-9.3	0.1	2		128	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,	,,,232/368,204/340,204/340,232/368,	128408921	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"GPCR / Class A : Orphans"	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.696G>A	2.37:g.128408921G>A			A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.P232	ENST00000272644.3	37	c.696	CCDS2148.1	2																																																																																			GPR17	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000144230		0.637	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR17	HGNC	protein_coding	OTTHUMT00000254390.1	-	0	56	0	G			128408921	1	tier1	-	no_errors	ENST00000272644	ensembl	human	known	74_37	silent	20.97	49	13	SNP	0.005	A	A	128408921	G	A	128408921	2	1	54	1	0	0	0	0	0	0	0	1	6693	1132	40	1		1	GPR17	2	128408921	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	54932770	128408921	114790452	55	13349											
TUBA3D	113457	genome.wustl.edu	37	chr2	132238133	132238133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcagctgtctgtggcCgagatcaccaatgcctgctt	8	9	11	13	2	2	1	1	0	1	1	2	3	2	1	3	1	4	3	3	1	1	1	rs554719635	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:132238133C>T	ENST00000321253.6	+	4	974	c.867C>T	c.(865-867)gcC>gcT	p.A289A		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	289					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGTCTGTGGCCGAGATCACCA	0.597													.|||	22	0.00439297	0.0068	0.0029	5008	,	,		17648	0.006		0.004	False		,,,				2504	0.001				Ovarian(137;2059 2432 35543 39401)												0													82	116	105					2																	132238133		2200	4298	6498	SO:0001819	synonymous_variant	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.867C>T	2.37:g.132238133C>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.A289	ENST00000321253.6	37	c.867	CCDS33290.1	2																																																																																			TUBA3D	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000075886		0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	-	0	130	0	C	NM_080386		132238133	1	tier1	rs140955382	no_errors	ENST00000321253	ensembl	human	known	74_37	silent	38.38	61	38	SNP	1.000	T	T	132238133	C	T	132238133	2	4	54	1	0	0	0	0	0	0	0	1	16796	639	23	1		1	TUBA3D	2	132238133	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3829212	132238133	110961240	56	13350											
NEB	4703	genome.wustl.edu	37	chr2	152409288	152409288	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgtgagctttatacttGatctgccgagaggaagaaaa	15	10	10	6	1	1	4	0	2	1	2	1	6	1	5	1	1	4	1	1	1	6	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:152409288G>T	ENST00000172853.10	-	100	14778	c.14631C>A	c.(14629-14631)atC>atA	p.I4877I	NEB_ENST00000603639.1_Silent_p.I6578I|NEB_ENST00000427231.2_Silent_p.I6578I|NEB_ENST00000409198.1_Silent_p.I4877I|NEB_ENST00000397345.3_Silent_p.I6578I|NEB_ENST00000604864.1_Silent_p.I6578I			P20929	NEBU_HUMAN	nebulin	4877					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTTATACTTGATCTGCCGAG	0.428																																																	0													146	127	133					2																	152409288		1905	4122	6027	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14631C>A	2.37:g.152409288G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I6578	ENST00000172853.10	37	c.19734		2																																																																																			NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	75	0	G	NM_004543		152409288	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	35.00	26	14	SNP	0.998	T	T	152409288	G	T	152409288	2	4	54	1	0	0	0	0	0	0	0	1	10341	1280	45	3		3	NEB	2	152409288	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	20171155	152409288	90790085	57	13351											
XIRP2	129446	genome.wustl.edu	37	chr2	167760159	167760159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagtatcagcacctcaatCtttggatcccacaagtctgc	10	11	8	12	0	4	0	2	0	2	0	5	1	5	1	2	2	2	3	2	2	4	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:167760159C>T	ENST00000409728.1	+	2	256	c.167C>T	c.(166-168)tCt>tTt	p.S56F	XIRP2_ENST00000409756.2_Missense_Mutation_p.S56F|XIRP2_ENST00000409195.1_Missense_Mutation_p.S56F|XIRP2_ENST00000420519.1_Missense_Mutation_p.S56F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S56F|XIRP2_ENST00000409043.1_Missense_Mutation_p.S56F	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S56Y(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCACCTCAATCTTTGGATCCC	0.493																																																	2	Substitution - Missense(2)	large_intestine(2)											75	74	75					2																	167760159		1952	4133	6085	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.167C>T	2.37:g.167760159C>T	ENSP00000386619:p.Ser56Phe		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.S56F	ENST00000409728.1	37	c.167	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620352	0.28801	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77750	-1.11;-1.12;4.23;-1.11;-1.12;4.23	5.36	1.36	0.22044	.	.	.	.	.	T	0.66819	0.2828	.	.	.	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.19946	0.027;0.027	T	0.57441	-0.7811	8	0.56958	D	0.05	-1.1174	7.2739	0.26273	0.0:0.5988:0.0:0.4012	.	56;56	A4UGR9-4;A4UGR9-6	.;.	F	56	ENSP00000386454:S56F;ENSP00000386619:S56F;ENSP00000386840:S56F;ENSP00000386724:S56F;ENSP00000415541:S56F;ENSP00000295237:S56F	ENSP00000295237:S56F	S	+	2	0	XIRP2	167468405	0.000000	0.05858	0.001000	0.08648	0.091000	0.18340	0.294000	0.19047	0.210000	0.20664	0.655000	0.94253	TCT	XIRP2	-	NULL	ENSG00000163092		0.493	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	62	0	C	NM_152381		167760159	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.007	T	T	167760159	C	T	167760159	3	4	54	1	0	0	0	0	1	0	0	0	17479	913	32	3	169	3	XIRP2	2	167760159	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	15350871	167760159	75439214	58	13352											
GAD1	2571	genome.wustl.edu	37	chr2	171702547	171702547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taattccagctgattttgagGcaaaaattcttgaagccaaa	15	12	7	7	0	1	3	0	3	1	0	2	3	2	3	2	1	2	2	2	1	5	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:171702547G>T	ENST00000358196.3	+	10	1526	c.976G>T	c.(976-978)Gca>Tca	p.A326S		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	326					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TGATTTTGAGGCAAAAATTCT	0.358																																																	0													62	66	65					2																	171702547		2203	4300	6503	SO:0001583	missense	0				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.976G>T	2.37:g.171702547G>T	ENSP00000350928:p.Ala326Ser		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.A326S	ENST00000358196.3	37	c.976	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099742	0.37048	.	.	ENSG00000128683	ENST00000358196	T	0.39787	1.06	5.91	3.19	0.36642	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.203184	0.51477	D	0.000085	T	0.30355	0.0762	L	0.31845	0.965	0.80722	D	1	B	0.06786	0.001	B	0.12156	0.007	T	0.05037	-1.0910	10	0.25751	T	0.34	-3.2305	11.1413	0.48404	0.1972:0.0:0.8028:0.0	.	326	Q99259	DCE1_HUMAN	S	326	ENSP00000350928:A326S	ENSP00000350928:A326S	A	+	1	0	GAD1	171410793	1.000000	0.71417	0.990000	0.47175	0.848000	0.48234	5.385000	0.66231	0.419000	0.25927	0.655000	0.94253	GCA	GAD1	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	ENSG00000128683		0.358	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	-	0	47	0	G			171702547	1	tier1	-	no_errors	ENST00000358196	ensembl	human	known	74_37	missense	33.96	35	18	SNP	1.000	T	T	171702547	G	T	171702547	3	4	54	1	0	0	0	0	1	0	0	0	6203	1203	42	3	1051	3	GAD1	2	171702547	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3942388	171702547	71496826	59	13353											
TTN	7273	genome.wustl.edu	37	chr2	179431596	179431596	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtctcttttctctacaatGtaaccaataatctcacttcc	10	16	2	13	0	3	0	1	0	3	0	7	0	4	0	2	0	2	1	2	0	5	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:179431596G>T	ENST00000591111.1	-	276	74564	c.74340C>A	c.(74338-74340)taC>taA	p.Y24780*	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y17481*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y17356*|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y26421*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y17548*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y23853*|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24780	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCTACAATGTAACCAATAA	0.413																																																	0													64	62	62					2																	179431596		1876	4108	5984	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74340C>A	2.37:g.179431596G>T	ENSP00000465570:p.Tyr24780*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y23853*	ENST00000591111.1	37	c.71559		2	.	.	.	.	.	.	.	.	.	.	G	63	79.388558	0.99993	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.75	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.5366	0.45007	0.2899:0.0:0.7101:0.0	.	.	.	.	X	23853;17356;17548;17481;17354	.	ENSP00000340554:Y17548X	Y	-	3	2	TTN	179139842	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.411000	0.44600	0.776000	0.33473	0.561000	0.74099	TAC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	47	0	G	NM_133378		179431596	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T	T	179431596	G	T	179431596	4	4	54	1	0	0	0	0	0	1	0	0	16784	1372	48	3	28864	3	TTN	2	179431596	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7729049	179431596	63767777	60	13354											
TTN	7273	genome.wustl.edu	37	chr2	179620975	179620975	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacacttagtactgctgacGttgtcctctctccacagtca	8	13	6	14	1	2	1	1	1	1	0	5	1	4	1	2	0	3	3	2	0	3	4	rs368071705		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:179620975G>A	ENST00000591111.1	-	44	10528				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.T3743M|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T3572M|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTGCTGACGTTGTCCTCTC	0.388																																																	0								G	,,,,MET/THR	0,3900		0,0,1950	176	175	175		,,,,10715	1.5	0	2		175	1,8309		0,1,4154	no	intron,intron,intron,intron,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,81	0,1,6104	AA,AG,GG		0.012,0.0,0.0082	,,,,	,,,,3572/27119	179620975	1,12209	1950	4155	6105	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2735C>T	2.37:g.179620975G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T3572M	ENST00000591111.1	37	c.10715		2	.	.	.	.	.	.	.	.	.	.	G	8.954	0.968835	0.18659	0.0	1.2E-4	ENSG00000155657	ENST00000342175	T	0.68331	-0.32	5.33	1.47	0.22746	.	.	.	.	.	T	0.53658	0.1810	.	.	.	0.23204	N	0.998129	B	0.14438	0.01	B	0.15052	0.012	T	0.48127	-0.9062	8	0.87932	D	0	.	7.0478	0.25055	0.2079:0.1246:0.6674:0.0	.	3572	E7ET18	.	M	3572	ENSP00000340554:T3572M	ENSP00000340554:T3572M	T	-	2	0	TTN	179329220	0.448000	0.25681	0.000000	0.03702	0.641000	0.38312	3.077000	0.50089	-0.008000	0.14320	0.650000	0.86243	ACG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	65	0	G	NM_133378		179620975	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.010	A	A	179620975	G	A	179620975	1	1	54	0	1	0	0	0	0	0	0	0	16784	1145	40	1		1	TTN	2	179620975	Intron	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	189379	179620975	63578398	61	13355											
STAT1	6772	genome.wustl.edu	37	chr2	191873763	191873763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaagcgactatattGatcatccagctgtgacagga	16	8	9	8	1	1	3	1	2	0	1	2	5	2	4	1	1	2	1	1	1	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:191873763G>T	ENST00000361099.3	-	4	586	c.199C>A	c.(199-201)Caa>Aaa	p.Q67K	STAT1_ENST00000540176.1_Missense_Mutation_p.Q67K|STAT1_ENST00000409465.1_Missense_Mutation_p.Q67K|STAT1_ENST00000392323.2_Missense_Mutation_p.Q69K|STAT1_ENST00000392322.3_Missense_Mutation_p.Q67K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	67					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.Q67*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CGACTATATTGATCATCCAGC	0.388																																																	1	Substitution - Nonsense(1)	lung(1)											107	101	103					2																	191873763		2203	4300	6503	SO:0001583	missense	0				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.199C>A	2.37:g.191873763G>T	ENSP00000354394:p.Gln67Lys		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.Q67K	ENST00000361099.3	37	c.199	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.568499	0.96540	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414;ENST00000432058	T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.67	5.67	0.87782	STAT transcription factor, protein interaction (4);	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	M	0.71581	2.175	0.80722	D	1	P;P	0.48911	0.917;0.741	B;P	0.47102	0.443;0.537	T	0.50874	-0.8776	10	0.16420	T	0.52	-28.5849	18.7673	0.91878	0.0:0.0:1.0:0.0	.	67;67	P42224-2;P42224	.;STAT1_HUMAN	K	67;67;67;67;69;67;67;67	ENSP00000354394:Q67K;ENSP00000386244:Q67K;ENSP00000438703:Q67K;ENSP00000376136:Q67K;ENSP00000376137:Q69K;ENSP00000402548:Q67K;ENSP00000411398:Q67K;ENSP00000416019:Q67K	ENSP00000354394:Q67K	Q	-	1	0	STAT1	191582008	1.000000	0.71417	0.927000	0.36925	0.956000	0.61745	9.869000	0.99810	2.683000	0.91414	0.557000	0.71058	CAA	STAT1	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000115415		0.388	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	-	0	38	0	G	NM_007315		191873763	-1	tier1	-	no_errors	ENST00000361099	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	191873763	G	T	191873763	3	4	54	1	0	0	0	0	1	0	0	0	15311	1299	45	3	2145	3	STAT1	2	191873763	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	12252788	191873763	51325610	62	13356											
DNAH7	56171	genome.wustl.edu	37	chr2	196722321	196722321	+	Frame_Shift_Del	DEL	T	T	-																															tgggccccagaaatcctcaaTttttttccctgaacctgttg																										TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:196722321delT	ENST00000312428.6	-	44	8294	c.8194delA	c.(8194-8196)attfs	p.I2732fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2732	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.I2732fs*15(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATCCTCAATTTTTTTCCCT	0.433																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8194delA	2.37:g.196722321delT	ENSP00000311273:p.Ile2732fs		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.I2732fs	ENST00000312428.6	37	c.8194	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0	57	0	T	NM_018897		196722321	-1	tier1		no_errors	ENST00000312428	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	1.000	-	-	196722321	T	-	196722321	7	5	54	1	0	1	0	1	0	0	0	0	4620	1493	52	0	3968	0	DNAH7	2	196722321	Frame_Shift_Del	DEL	T	TCGA-L5-A4OE-01A-11D-A27G-09	4848558	196722321	46477052	63	13357											
SGOL2	151246	genome.wustl.edu	37	chr2	201436243	201436243	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaataaaaaaacaaatGaacatggaatgaaaactttc	24	8	5	4	0	0	2	0	2	0	0	1	3	0	3	0	1	3	1	0	1	11	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:201436243G>T	ENST00000357799.4	+	7	1272	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	392					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E392Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAAACAAATGAACATGGAAT	0.318																																																	1	Substitution - Missense(1)	urinary_tract(1)											37	37	37					2																	201436243		1807	4063	5870	SO:0001587	stop_gained	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1174G>T	2.37:g.201436243G>T	ENSP00000350447:p.Glu392*		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Nonsense_Mutation	SNP	NULL	p.E392*	ENST00000357799.4	37	c.1174	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024810	0.35701	.	.	ENSG00000163535	ENST00000357799	.	.	.	5.0	1.2	0.21068	.	0.789609	0.11632	N	0.544722	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-0.7642	9.0655	0.36460	0.302:0.0:0.698:0.0	.	.	.	.	X	392	.	ENSP00000350447:E392X	E	+	1	0	SGOL2	201144488	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.183000	0.16919	0.379000	0.24794	0.585000	0.79938	GAA	SGOL2	-	NULL	ENSG00000163535		0.318	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1		0	17	0	G	NM_152524		201436243	1			no_errors	ENST00000357799	ensembl	human	known	74_37	nonsense	15.38	11	2	SNP	0.000	T	T	201436243	G	T	201436243	4	4	54	1	0	0	0	0	0	1	0	0	14262	1291	45	3	1196	3	SGOL2	2	201436243	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4713922	201436243	41763130	64	13358											
RPE	6120	genome.wustl.edu	37	chr2	210867476	210867476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccggatgctagactctgggGccgattatctgcacctggac	7	10	12	12	2	2	1	0	0	2	1	3	4	3	3	3	4	2	2	3	4	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:210867476G>T	ENST00000359429.6	+	1	188	c.91G>T	c.(91-93)Gcc>Tcc	p.A31S	RPE_ENST00000445268.1_5'UTR|RPE_ENST00000540255.1_Missense_Mutation_p.A31S|RPE_ENST00000429921.1_5'UTR|RPE_ENST00000354506.6_Missense_Mutation_p.A31S|RPE_ENST00000436630.2_5'UTR|RPE_ENST00000452025.1_Missense_Mutation_p.A31S|RPE_ENST00000438204.2_5'UTR|RPE_ENST00000435437.2_Missense_Mutation_p.A31S|RPE_ENST00000411934.2_5'UTR|RPE_ENST00000429907.1_5'UTR|RPE_ENST00000454822.1_5'UTR	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	31					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGACTCTGGGGCCGATTATCT	0.632																																																	0													82	85	84					2																	210867476		2203	4300	6503	SO:0001583	missense	0				CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.91G>T	2.37:g.210867476G>T	ENSP00000352401:p.Ala31Ser		A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like	p.A31S	ENST00000359429.6	37	c.91	CCDS2388.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.582699	0.96578	.	.	ENSG00000197713	ENST00000359429;ENST00000540255;ENST00000452025;ENST00000435437;ENST00000354506	.	.	.	5.1	5.1	0.69264	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.70275	2.135	0.80722	D	1	D;D;P	0.59767	0.986;0.966;0.754	P;D;D	0.66716	0.897;0.946;0.945	T	0.78643	-0.2124	9	0.54805	T	0.06	.	19.0748	0.93156	0.0:0.0:1.0:0.0	.	31;31;31	B4E016;Q96AT9;C9J9T0	.;RPE_HUMAN;.	S	31	.	ENSP00000346501:A31S	A	+	1	0	RPE	210575721	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.546000	0.90661	2.817000	0.96982	0.561000	0.74099	GCC	RPE	-	pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like	ENSG00000197713		0.632	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE	HGNC	protein_coding	OTTHUMT00000336574.2	-	0	36	0	G	NM_006916		210867476	1	tier1	-	no_errors	ENST00000359429	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	T	T	210867476	G	T	210867476	3	4	54	1	0	0	0	0	1	0	0	0	13589	1203	42	3	93	3	RPE	2	210867476	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	9431233	210867476	32331897	65	13359											
ERBB4	2066	genome.wustl.edu	37	chr2	212488710	212488710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagctcagtttctttCaaaatacgaagttgagcttg	10	15	7	9	1	5	1	3	1	2	0	5	2	5	1	0	0	3	4	0	0	4	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:212488710C>A	ENST00000342788.4	-	18	2449	c.2139G>T	c.(2137-2139)ttG>ttT	p.L713F	ERBB4_ENST00000402597.1_Missense_Mutation_p.L703F|ERBB4_ENST00000436443.1_Missense_Mutation_p.L713F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	713					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAGTTTCTTTCAAAATACGAA	0.403										TSP Lung(8;0.080)																																							0													100	97	98					2																	212488710		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2139G>T	2.37:g.212488710C>A	ENSP00000342235:p.Leu713Phe		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L713F	ENST00000342788.4	37	c.2139	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.06|18.06	3.539344|3.539344	0.65085|0.65085	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.76968|.	-1.06;-1.06;-1.04|.	5.74|5.74	4.68|4.68	0.58851|0.58851	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.59797|.	0.2220|.	L|L	0.49126|0.49126	1.545|1.545	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D;D|.	0.89917|.	1.0;0.983;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.996;0.926;0.999;0.999|.	T|.	0.55405|.	-0.8146|.	10|.	0.35671|.	T|.	0.21|.	.|.	10.3596|10.3596	0.43984|0.43984	0.0:0.7995:0.0:0.2005|0.0:0.7995:0.0:0.2005	.|.	703;703;713;713|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	F|L	713;713;703|703	ENSP00000342235:L713F;ENSP00000403204:L713F;ENSP00000385565:L703F|.	ENSP00000342235:L713F|.	L|X	-|-	3|2	2|2	ERBB4|ERBB4	212196955|212196955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.941000|0.941000	0.29005|0.29005	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	TTG|TGA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom	ENSG00000178568		0.403	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	85	0	C	NM_001042599		212488710	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	25.00	45	15	SNP	1.000	A	A	212488710	C	A	212488710	3	1	54	1	0	0	0	0	1	0	0	0	5225	825	29	3	1831	3	ERBB4	2	212488710	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1621234	212488710	30710663	66	13360											
ABCA12	26154	genome.wustl.edu	37	chr2	215890486	215890486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaaatcgtattgtggactGcaggagtcttagattttctg	9	17	10	5	1	2	1	0	0	2	1	3	3	2	3	0	2	1	2	0	2	4	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:215890486G>T	ENST00000272895.7	-	11	1417	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K	AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000419251.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Q82K|AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	400					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTGTGGACTGCAGGAGTCTT	0.373																																					Ovarian(66;664 1488 5121 34295)												0													72	74	73					2																	215890486		2203	4299	6502	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1198C>A	2.37:g.215890486G>T	ENSP00000272895:p.Gln400Lys		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Q400K	ENST00000272895.7	37	c.1198	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760277	0.31137	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.54866	0.55;0.55	5.96	5.09	0.68999	.	0.320832	0.26470	N	0.024182	T	0.34366	0.0895	N	0.24115	0.695	0.80722	D	1	B;B	0.17465	0.013;0.022	B;B	0.17722	0.009;0.019	T	0.16541	-1.0399	10	0.02654	T	1	.	12.776	0.57448	0.0:0.0:0.8361:0.1639	.	400;82	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	K	400;82	ENSP00000272895:Q400K;ENSP00000374312:Q82K	ENSP00000272895:Q400K	Q	-	1	0	ABCA12	215598731	0.999000	0.42202	0.997000	0.53966	0.911000	0.54048	3.234000	0.51320	1.530000	0.49136	-0.127000	0.14921	CAG	ABCA12	-	NULL	ENSG00000144452		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	71	0	G	NM_173076		215890486	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.995	T	T	215890486	G	T	215890486	3	4	54	1	0	0	0	0	1	0	0	0	30	1328	46	3	6761	3	ABCA12	2	215890486	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3401776	215890486	27308887	67	13361											
CXCR2	3579	genome.wustl.edu	37	chr2	218999903	218999903	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggtctcactcctgaagGaagtcaacttctatagtggc	10	11	11	9	0	3	1	2	1	2	0	5	2	4	2	1	4	1	0	1	4	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:218999903G>T	ENST00000318507.2	+	3	806	c.379G>T	c.(379-381)Gaa>Taa	p.E127*		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	127					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTCCTGAAGGAAGTCAACTT	0.552																																																	0													125	112	117					2																	218999903		2203	4300	6503	SO:0001587	stop_gained	0			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6027	protein-coding gene	gene with protein product		146928	"interleukin 8 receptor, beta"	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.379G>T	2.37:g.218999903G>T	ENSP00000319635:p.Glu127*		Q8IUZ1|Q9P2T6|Q9P2T7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.E127*	ENST00000318507.2	37	c.379	CCDS2408.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.322515	0.97471	.	.	ENSG00000180871	ENST00000453237;ENST00000415392;ENST00000318507;ENST00000454148;ENST00000428565	.	.	.	4.91	4.91	0.64330	.	0.055157	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	10.9231	0.47176	0.089:0.0:0.911:0.0	.	.	.	.	X	127	.	ENSP00000319635:E127X	E	+	1	0	CXCR2	218708148	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.207000	0.72159	2.448000	0.82819	0.456000	0.33151	GAA	CXCR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	ENSG00000180871		0.552	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR2	HGNC	protein_coding	OTTHUMT00000256772.2	-	0	94	0	G	NM_001557		218999903	1	tier1	-	no_errors	ENST00000318507	ensembl	human	known	74_37	nonsense	35.29	44	24	SNP	0.998	T	T	218999903	G	T	218999903	4	4	54	1	0	0	0	0	0	1	0	0	4100	1175	41	3	381	3	CXCR2	2	218999903	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3109417	218999903	24199470	68	13362											
PLCD4	84812	genome.wustl.edu	37	chr2	219500634	219500634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacacagcacggcaggagaCcaactatgtggagaacaatg	16	4	12	9	1	0	3	0	0	0	3	0	5	0	3	1	3	3	2	1	3	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:219500634C>T	ENST00000450993.2	+	14	2351	c.2012C>T	c.(2011-2013)aCc>aTc	p.T671I	PLCD4_ENST00000417849.1_Missense_Mutation_p.T671I|PLCD4_ENST00000432688.1_Missense_Mutation_p.T703I|RP11-548H3.1_ENST00000607946.1_RNA	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	671	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGCAGGAGACCAACTATGTG	0.498																																																	0													74	76	75					2																	219500634		1983	4146	6129	SO:0001583	missense	0			AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"EF-hand domain containing"	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.2012C>T	2.37:g.219500634C>T	ENSP00000388631:p.Thr671Ile		Q53FS8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.T671I	ENST00000450993.2	37	c.2012	CCDS46516.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589750	0.86851	.	.	ENSG00000115556	ENST00000450993;ENST00000417849;ENST00000432688	T;T;T	0.48836	0.8;0.8;0.8	5.55	5.55	0.83447	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	H	0.98866	4.355	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.88281	0.2936	10	0.87932	D	0	.	16.0061	0.80363	0.0:0.8657:0.1343:0.0	.	671	Q9BRC7	PLCD4_HUMAN	I	671;671;703	ENSP00000388631:T671I;ENSP00000396942:T671I;ENSP00000396185:T703I	ENSP00000396942:T671I	T	+	2	0	PLCD4	219208878	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.762000	0.68809	2.894000	0.99253	0.655000	0.94253	ACC	PLCD4	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000115556		0.498	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	PLCD4	HGNC	protein_coding	OTTHUMT00000336876.1	-	0	36	0	C			219500634	1	tier1	-	no_errors	ENST00000417849	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	T	T	219500634	C	T	219500634	3	4	54	1	0	0	0	0	1	0	0	0	12072	507	18	3	2062	3	PLCD4	2	219500634	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	500731	219500634	23698739	69	13363											
ACCN4	55515	genome.wustl.edu	37	chr2	220396515	220396515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagtgttacaccttcaaCgcggacccgcggagctcgct	8	7	13	13	5	1	0	1	0	0	0	2	3	1	3	2	3	3	3	2	3	3	2	rs148269786		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:220396515C>T	ENST00000347842.3	+	2	1013	c.999C>T	c.(997-999)aaC>aaT	p.N333N	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000358078.4_Silent_p.N333N	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	333					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										ACACCTTCAACGCGGACCCGC	0.617																																																	0								C	,	2,4404	4.2+/-10.8	0,2,2201	62	67	65		999,999	-0.4	1	2	dbSNP_134	65	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACCN4	NM_018674.4,NM_182847.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	333/667,333/648	220396515	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.999C>T	2.37:g.220396515C>T			Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.N333	ENST00000347842.3	37	c.999	CCDS2442.1	2																																																																																			ASIC4	-	pfam_Na+channel_ASC	ENSG00000072182		0.617	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	HGNC	protein_coding	OTTHUMT00000130263.1	-	0	29	0	C	NM_018674		220396515	1	tier1	rs148269786	no_errors	ENST00000347842	ensembl	human	known	74_37	silent	50.00	17	17	SNP	0.998	T	T	220396515	C	T	220396515	2	4	54	1	0	0	0	0	0	0	0	1	131	535	19	1		1	ACCN4	2	220396515	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	895881	220396515	22802858	70	13364											
SPHKAP	80309	genome.wustl.edu	37	chr2	228882999	228882999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggggacctttgtccttcGgaagaggctctgcattcatt	6	14	12	9	1	2	1	1	0	1	1	4	3	3	3	2	4	1	3	2	4	1	5	rs533054194	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:228882999G>A	ENST00000392056.3	-	7	2617	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	SPHKAP_ENST00000344657.5_Silent_p.S857S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	857						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S857S(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTGTCCTTCGGAAGAGGCTC	0.488													G|||	2	0.000399361	0	0	5008	,	,		20744	0		0	False		,,,				2504	0.002																2	Substitution - coding silent(2)	endometrium(2)											684	648	660					2																	228882999		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2571C>T	2.37:g.228882999G>A			Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	pfam_AKAP_110_C	p.S857	ENST00000392056.3	37	c.2571	CCDS46537.1	2																																																																																			SPHKAP	-	NULL	ENSG00000153820		0.488	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	98	0	G	NM_030623		228882999	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	silent	43.75	36	28	SNP	0.000	A	A	228882999	G	A	228882999	2	1	54	1	0	0	0	0	0	0	0	1	15095	1103	39	1		1	SPHKAP	2	228882999	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	8486484	228882999	14316374	71	13365											
DNER	92737	genome.wustl.edu	37	chr2	230223312	230223312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcatcaggactgtaatCttcataggcgatggggctca	9	13	11	8	1	5	0	4	0	1	0	5	2	5	1	0	4	0	2	0	4	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:230223312C>A	ENST00000341772.4	-	13	2292	c.2158G>T	c.(2158-2160)Gat>Tat	p.D720Y		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	720					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGACTGTAATCTTCATAGGCG	0.368																																																	0													90	91	91					2																	230223312		2203	4300	6503	SO:0001583	missense	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2158G>T	2.37:g.230223312C>A	ENSP00000345229:p.Asp720Tyr		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.D720Y	ENST00000341772.4	37	c.2158	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014344	0.75161	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86956	-2.19	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90636	0.4571	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:1.0:0.0:0.0	.	720	Q8NFT8	DNER_HUMAN	Y	720;438	ENSP00000345229:D720Y	ENSP00000345229:D720Y	D	-	1	0	DNER	229931556	1.000000	0.71417	0.989000	0.46669	0.777000	0.43975	7.027000	0.76463	2.878000	0.98634	0.650000	0.86243	GAT	DNER	-	NULL	ENSG00000187957		0.368	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	-	0	49	0	C	NM_139072		230223312	-1	tier1	-	no_errors	ENST00000341772	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	A	A	230223312	C	A	230223312	3	1	54	1	0	0	0	0	1	0	0	0	4681	913	32	3	59	3	DNER	2	230223312	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1340313	230223312	12976061	72	13366											
TRIP12	9320	genome.wustl.edu	37	chr2	230660024	230660024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacccactggttccactcttCcaatgggctcttctccagga	7	12	7	15	0	3	0	0	0	3	0	6	1	5	1	4	3	1	2	4	3	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr2:230660024C>T	ENST00000283943.5	-	25	3792	c.3614G>A	c.(3613-3615)gGa>gAa	p.G1205E	TRIP12_ENST00000389045.3_Missense_Mutation_p.G935E|TRIP12_ENST00000389044.4_Missense_Mutation_p.G1253E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1205					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTCCACTCTTCCAATGGGCTC	0.383																																																	0													82	74	77					2																	230660024		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3614G>A	2.37:g.230660024C>T	ENSP00000283943:p.Gly1205Glu		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.G1205E	ENST00000283943.5	37	c.3614	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130400	0.56721	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.44482	0.92;1.29;0.92	5.74	4.87	0.63330	.	0.094559	0.64402	N	0.000001	T	0.33904	0.0879	L	0.54323	1.7	0.80722	D	1	B;B;B	0.27559	0.155;0.181;0.155	B;B;B	0.30572	0.117;0.075;0.117	T	0.11518	-1.0584	10	0.02654	T	1	.	10.3486	0.43920	0.0:0.7951:0.1344:0.0705	.	935;1253;1205	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	1205;935;1253	ENSP00000283943:G1205E;ENSP00000373697:G935E;ENSP00000373696:G1253E	ENSP00000283943:G1205E	G	-	2	0	TRIP12	230368268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.421000	0.59848	1.438000	0.47492	0.650000	0.86243	GGA	TRIP12	-	NULL	ENSG00000153827		0.383	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0	41	0	C	NM_004238		230660024	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	missense	23.33	22	7	SNP	1.000	T	T	230660024	C	T	230660024	3	4	54	1	0	0	0	0	1	0	0	0	16604	855	30	3	2432	3	TRIP12	2	230660024	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	436712	230660024	12539349	73	13367											
SRGAP3	9901	genome.wustl.edu	37	chr3	9036154	9036154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaaggatagctcacGcggggaccgccccatgtagt	8	9	12	12	3	2	1	1	1	1	0	2	3	2	3	3	3	1	2	3	3	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:9036154G>T	ENST00000383836.3	-	19	2708	c.2281C>A	c.(2281-2283)Cgt>Agt	p.R761S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.R737S	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	761	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATAGCTCACGCGGGGACCGC	0.597			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													71	69	70					3																	9036154		2203	4300	6503	SO:0001583	missense	0			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2281C>A	3.37:g.9036154G>T	ENSP00000373347:p.Arg761Ser		Q8IX13|Q8IZV8	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.R761S	ENST00000383836.3	37	c.2281	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402271	0.83230	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.42513	0.97;0.97	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	M	0.78285	2.405	0.58432	D	0.999999	D;B	0.63046	0.992;0.287	D;B	0.70487	0.969;0.336	T	0.63998	-0.6510	10	0.32370	T	0.25	.	18.1343	0.89612	0.0:0.0:1.0:0.0	.	737;761	O43295-2;O43295	.;SRGP2_HUMAN	S	761;737	ENSP00000373347:R761S;ENSP00000353587:R737S	ENSP00000353587:R737S	R	-	1	0	SRGAP3	9011154	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	6.194000	0.72082	2.433000	0.82419	0.650000	0.86243	CGT	SRGAP3	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000196220		0.597	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	-	0	28	0	G			9036154	-1	tier1	-	no_errors	ENST00000383836	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.997	T	T	9036154	G	T	9036154	3	4	54	1	0	0	0	0	1	0	0	0	15194	1087	38	2	1034	2	SRGAP3	3	9036154	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		9036154	188986276	74	13368											
ARPC4	10093	genome.wustl.edu	37	chr3	9843356	9843356	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccccaggctgatgagatCgagaagattttgtgccacaa	12	9	10	10	1	0	4	0	2	0	3	2	6	1	4	3	1	1	1	3	1	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:9843356C>A	ENST00000397261.3	+	4	810	c.246C>A	c.(244-246)atC>atA	p.I82I	ARPC4_ENST00000287613.7_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.I82I|ARPC4_ENST00000498623.2_5'UTR|ARPC4_ENST00000433034.1_Silent_p.I101I	NM_005718.4	NP_005709.1	P59998	ARPC4_HUMAN	actin related protein 2/3 complex, subunit 4, 20kDa	82					actin filament polymerization (GO:0030041)|actin nucleation (GO:0045010)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					CTGATGAGATCGAGAAGATTT	0.478																																																	0													73	69	70					3																	9843356		1961	4165	6126	SO:0001819	synonymous_variant	0			AF019888	CCDS43047.1, CCDS46743.1, CCDS56238.1	3p25	2011-07-06	2002-08-29		ENSG00000241553	ENSG00000241553		"Actin related protein 2/3 complex subunits"	707	protein-coding gene	gene with protein product	"Arp2/3 protein complex subunit p20", "actin related protein 2/3 complex, subunit 4 (20 kD)"	604226	"actin related protein 2/3 complex, subunit 4 (20 kD)"			9230079, 9359840	Standard	NM_005718		Approved	p20-Arc, ARC20		P59998	OTTHUMG00000133768	ENST00000397261.3:c.246C>A	3.37:g.9843356C>A			C9JWM7|E7ETI0|F6TTL5|O15509|Q6P0W5|Q96QJ3	Silent	SNP	pfam_TTL/TTLL_fam,pfam_ARPC4	p.I82	ENST00000397261.3	37	c.246	CCDS43047.1	3																																																																																			ARPC4-TTLL3	-	pfam_ARPC4	ENSG00000250151		0.478	ARPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC4-TTLL3	HGNC	protein_coding	OTTHUMT00000258275.2	-	0	93	0	C	NM_001024959		9843356	1	tier1	-	no_errors	ENST00000397256	ensembl	human	known	74_37	silent	36.92	41	24	SNP	0.520	A	A	9843356	C	A	9843356	2	1	54	1	0	0	0	0	0	0	0	1	974	874	31	2		2	ARPC4	3	9843356	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	807202	9843356	188179074	75	13369											
IQSEC1	9922	genome.wustl.edu	37	chr3	12978085	12978085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctctgacatggagctgCgcaagcgctcgaagttcttg	7	11	13	10	3	2	1	0	1	2	0	4	3	2	2	0	2	3	5	0	2	2	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:12978085C>T	ENST00000273221.4	-	3	689	c.473G>A	c.(472-474)cGc>cAc	p.R158H	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	158	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATGGAGCTGCGCAAGCGCTC	0.582																																																	0													45	36	39					3																	12978085		2203	4300	6503	SO:0001583	missense	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.473G>A	3.37:g.12978085C>T	ENSP00000273221:p.Arg158His		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.R158H	ENST00000273221.4	37	c.473	CCDS33703.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902538	0.92035	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.63096	-0.02;-0.02	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.80497	0.4634	.	.	.	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.83975	0.0329	9	0.87932	D	0	.	17.558	0.87898	0.0:1.0:0.0:0.0	.	144;144;158	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	H	158;144;144	ENSP00000273221:R158H;ENSP00000402299:R144H	ENSP00000273221:R158H	R	-	2	0	IQSEC1	12953085	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.645000	0.83430	2.366000	0.80165	0.462000	0.41574	CGC	IQSEC1	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000144711		0.582	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	-	0	46	0	C	NM_014869		12978085	-1	tier1	-	no_errors	ENST00000273221	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	T	T	12978085	C	T	12978085	3	4	54	1	0	0	0	0	1	0	0	0	7844	768	27	1	3011	1	IQSEC1	3	12978085	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3134729	12978085	185044345	76	13370											
TOP2B	7155	genome.wustl.edu	37	chr3	25670414	25670414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattcaggaatactgtaGaaggaaagttcctgcttatt	14	13	8	6	0	2	1	2	0	0	1	3	3	3	3	1	2	2	3	1	2	7	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:25670414G>T	ENST00000264331.4	-	15	1829	c.1830C>A	c.(1828-1830)ttC>ttA	p.F610L	TOP2B_ENST00000435706.2_Missense_Mutation_p.F605L	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	610					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GAATACTGTAGAAGGAAAGTT	0.254																																																	0													54	51	52					3																	25670414		1787	4055	5842	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1830C>A	3.37:g.25670414G>T	ENSP00000264331:p.Phe610Leu		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.F610L	ENST00000264331.4	37	c.1830		3	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568841	0.86439	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.49720	0.77;0.77	5.37	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.78521	0.4296	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85912	0.1441	10	0.87932	D	0	-6.5001	14.0684	0.64847	0.073:0.0:0.927:0.0	.	605	Q02880-2	.	L	605;610;605	ENSP00000396704:F605L;ENSP00000264331:F610L	ENSP00000264331:F610L	F	-	3	2	TOP2B	25645418	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.792000	0.62467	1.394000	0.46624	0.650000	0.86243	TTC	TOP2B	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000077097		0.254	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		-	0	61	0	G			25670414	-1	tier1	-	no_errors	ENST00000264331	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	25670414	G	T	25670414	3	4	54	1	0	0	0	0	1	0	0	0	16414	933	33	3	3138	3	TOP2B	3	25670414	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	12692329	25670414	172352016	77	13371											
SUSD5	26032	genome.wustl.edu	37	chr3	33195262	33195262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagtgcttctggagcaGccgtgatcctggtgaatctg	9	10	13	9	1	2	2	0	2	2	0	3	4	3	3	2	2	4	2	2	2	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:33195262G>T	ENST00000309558.3	-	5	1279	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	288					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTCTGGAGCAGCCGTGATCCT	0.537																																																	0													46	46	46					3																	33195262		1928	4139	6067	SO:0001583	missense	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.862C>A	3.37:g.33195262G>T	ENSP00000308727:p.Leu288Met			Missense_Mutation	SNP	pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.L288M	ENST00000309558.3	37	c.862	CCDS46787.1	3	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382332	0.24944	.	.	ENSG00000173705	ENST00000309558	T	0.16324	2.35	6.02	3.2	0.36748	.	0.331755	0.27284	N	0.020061	T	0.30166	0.0756	M	0.66939	2.045	0.09310	N	1	D	0.57899	0.981	P	0.57371	0.819	T	0.05566	-1.0877	10	0.66056	D	0.02	-0.0485	8.1247	0.30992	0.1276:0.2454:0.627:0.0	.	288	O60279	SUSD5_HUMAN	M	288	ENSP00000308727:L288M	ENSP00000308727:L288M	L	-	1	2	SUSD5	33170266	0.041000	0.20044	0.001000	0.08648	0.002000	0.02628	0.690000	0.25451	0.858000	0.35431	0.655000	0.94253	CTG	SUSD5	-	NULL	ENSG00000173705		0.537	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	-	0	43	0	G	XM_171054		33195262	-1	tier1	-	no_errors	ENST00000309558	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.001	T	T	33195262	G	T	33195262	3	4	54	1	0	0	0	0	1	0	0	0	15458	962	34	3	1031	3	SUSD5	3	33195262	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7524848	33195262	164827168	78	13372											
PDCD6IP	10015	genome.wustl.edu	37	chr3	33868054	33868054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttcaaacagtgtcaataCaaagatactctccccaaggt	14	10	6	11	0	3	1	2	0	1	1	4	1	3	1	2	1	3	1	2	1	6	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:33868054C>T	ENST00000307296.3	+	6	1076	c.699C>T	c.(697-699)taC>taT	p.Y233Y	PDCD6IP_ENST00000457054.2_Silent_p.Y233Y			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	233	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AGTGTCAATACAAAGATACTC	0.328																																																	0													116	110	112					3																	33868054		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.699C>T	3.37:g.33868054C>T			C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.Y233	ENST00000307296.3	37	c.699	CCDS2660.1	3																																																																																			PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000170248		0.328	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	-	0	53	0	C			33868054	1	tier1	-	no_errors	ENST00000457054	ensembl	human	known	74_37	silent	36.54	33	19	SNP	1.000	T	T	33868054	C	T	33868054	2	4	54	1	0	0	0	0	0	0	0	1	11663	489	17	3		3	PDCD6IP	3	33868054	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	672792	33868054	164154376	79	13373											
ZBTB47	92999	genome.wustl.edu	37	chr3	42700678	42700678	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcagagacactcggaCgaggaggaggaggacgacga	12	2	19	8	4	0	1	0	0	0	1	1	10	0	6	0	6	1	2	0	6	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:42700678C>T	ENST00000232974.6	+	2	1112	c.831C>T	c.(829-831)gaC>gaT	p.D277D	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	277	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GACACTCggacgaggaggagg	0.672																																																	0													18	26	23					3																	42700678		692	1590	2282	SO:0001819	synonymous_variant	0			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26955	protein-coding gene	gene with protein product			"zinc finger protein 651"	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.831C>T	3.37:g.42700678C>T			H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D277	ENST00000232974.6	37	c.831	CCDS46805.2	3																																																																																			ZBTB47	-	NULL	ENSG00000114853		0.672	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3		0	21	0	C	NM_145166		42700678	1			no_errors	ENST00000232974	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.993	T	T	42700678	C	T	42700678	2	4	54	1	0	0	0	0	0	0	0	1	17596	535	19	1		1	ZBTB47	3	42700678	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	8832624	42700678	155321752	80	13374											
COL7A1	1294	genome.wustl.edu	37	chr3	48607184	48607184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttagtcctgcactccCaacatcaccctattgggcaa	10	10	5	16	0	1	0	1	0	0	0	3	0	3	0	4	1	2	2	4	1	4	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:48607184C>A	ENST00000328333.8	-	100	7638	c.7531G>T	c.(7531-7533)Ggg>Tgg	p.G2511W	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2479W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2511	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGCACTCCCAACATCACCC	0.597																																																	0													69	68	68					3																	48607184		2203	4300	6503	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7531G>T	3.37:g.48607184C>A	ENSP00000332371:p.Gly2511Trp		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G2511W	ENST00000328333.8	37	c.7531	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852231	0.32699	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99637	-6.29;-6.29	5.36	5.36	0.76844	.	0.000000	0.45361	D	0.000367	D	0.99846	0.9929	H	0.99573	4.635	0.41127	D	0.985859	D	0.89917	1.0	D	0.97110	1.0	D	0.96485	0.9359	10	0.87932	D	0	.	16.8772	0.86055	0.0:1.0:0.0:0.0	.	2511	Q02388	CO7A1_HUMAN	W	2511;2479	ENSP00000332371:G2511W;ENSP00000412569:G2479W	ENSP00000332371:G2511W	G	-	1	0	COL7A1	48582188	0.970000	0.33590	0.391000	0.26233	0.012000	0.07955	4.953000	0.63624	2.515000	0.84797	0.591000	0.81541	GGG	COL7A1	-	pfam_Collagen	ENSG00000114270		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0	29	0	C	NM_000094		48607184	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.750	A	A	48607184	C	A	48607184	3	1	54	1	0	0	0	0	1	0	0	0	3711	594	21	3	1379	3	COL7A1	3	48607184	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	5906506	48607184	149415246	81	13375											
DOCK3	1795	genome.wustl.edu	37	chr3	51418911	51418911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctcgaggcctgcaccGcaaggctccattgcctcctg	6	7	12	16	2	0	0	0	0	0	0	3	2	2	0	6	3	2	3	6	3	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:51418911G>A	ENST00000266037.9	+	53	6037	c.6014G>A	c.(6013-6015)cGc>cAc	p.R2005H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	2005					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCCTGCACCGCAAGGCTCCA	0.711																																																	0													9	12	11					3																	51418911		2040	4177	6217	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.6014G>A	3.37:g.51418911G>A	ENSP00000266037:p.Arg2005His		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R2005H	ENST00000266037.9	37	c.6014	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319170	0.81469	.	.	ENSG00000088538	ENST00000266037	T	0.17370	2.28	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.16514	0.0397	L	0.27053	0.805	0.58432	D	0.999998	B	0.15473	0.013	B	0.08055	0.003	T	0.04386	-1.0955	10	0.38643	T	0.18	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2005	Q8IZD9	DOCK3_HUMAN	H	2005	ENSP00000266037:R2005H	ENSP00000266037:R2005H	R	+	2	0	DOCK3	51393951	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.179000	0.94861	2.941000	0.99782	0.655000	0.94253	CGC	DOCK3	-	NULL	ENSG00000088538		0.711	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	21	0	G	NM_004947		51418911	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	62.50	3	5	SNP	1.000	A	A	51418911	G	A	51418911	3	1	54	1	0	0	0	0	1	0	0	0	4702	1087	38	1	6224	1	DOCK3	3	51418911	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2811727	51418911	146603519	82	13376											
EPHA6	285220	genome.wustl.edu	37	chr3	97202843	97202843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacccatccctagcagtcCatgaatttgcaaaggagatt	14	9	8	10	0	0	3	0	1	0	2	2	4	2	3	3	1	2	2	3	1	4	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:97202843C>A	ENST00000514100.1	+	7	558	c.316C>A	c.(316-318)Cat>Aat	p.H106N	EPHA6_ENST00000389672.5_Missense_Mutation_p.H714N|EPHA6_ENST00000502694.1_Missense_Mutation_p.H106N|EPHA6_ENST00000442602.2_Missense_Mutation_p.H80N	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	620	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCTAGCAGTCCATGAATTTGC	0.378																																																	0													101	104	103					3																	97202843		1881	4108	5989	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.316C>A	3.37:g.97202843C>A	ENSP00000421711:p.His106Asn		D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H714N	ENST00000514100.1	37	c.2140		3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475270	0.84640	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.11169	2.8;2.8;2.8;2.8	5.47	5.47	0.80525	Protein kinase-like domain (1);	.	.	.	.	T	0.39358	0.1075	M	0.82517	2.595	0.80722	D	1	D;P;D;D	0.67145	0.968;0.704;0.996;0.984	P;B;D;P	0.75484	0.504;0.291;0.986;0.724	T	0.30119	-0.9989	9	0.72032	D	0.01	.	19.3959	0.94607	0.0:1.0:0.0:0.0	.	80;619;106;106	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	N	714;106;106;80	ENSP00000374323:H714N;ENSP00000421711:H106N;ENSP00000423950:H106N;ENSP00000403100:H80N	ENSP00000374323:H714N	H	+	1	0	EPHA6	98685533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.622000	0.61240	2.585000	0.87301	0.556000	0.70494	CAT	EPHA6	-	superfamily_Kinase-like_dom	ENSG00000080224		0.378	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	-	0	71	0	C	NM_001080448		97202843	1	tier1	-	no_errors	ENST00000389672	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	97202843	C	A	97202843	3	1	54	1	0	0	0	0	1	0	0	0	5187	594	21	3	2246	3	EPHA6	3	97202843	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	45783932	97202843	100819587	83	13377											
DCBLD2	131566	genome.wustl.edu	37	chr3	98568374	98568374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggattccactcatgaacaGcaatgtgatttcattgcctt	11	14	7	9	0	2	2	2	2	0	0	3	3	3	3	2	1	3	1	2	1	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:98568374G>T	ENST00000326840.6	-	3	864	c.502C>A	c.(502-504)Ctg>Atg	p.L168M	DCBLD2_ENST00000326857.9_Missense_Mutation_p.L168M|DCBLD2_ENST00000469648.1_5'UTR	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	168	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTCATGAACAGCAATGTGATT	0.383																																																	0													124	117	119					3																	98568374		1882	4104	5986	SO:0001583	missense	0				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.502C>A	3.37:g.98568374G>T	ENSP00000321573:p.Leu168Met		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.L168M	ENST00000326840.6	37	c.502	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.355319	0.82243	.	.	ENSG00000057019	ENST00000326840;ENST00000404023;ENST00000326857;ENST00000449482	T;T;T	0.35973	1.28;1.28;1.28	5.62	5.62	0.85841	CUB (5);	0.200441	0.44285	D	0.000464	T	0.51584	0.1683	L	0.50919	1.6	0.32644	N	0.520353	D;D	0.67145	0.996;0.986	P;P	0.59424	0.8;0.857	T	0.60875	-0.7176	10	0.59425	D	0.04	-11.913	17.1542	0.86785	0.0:0.0:1.0:0.0	.	168;168	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	M	168;122;168;62	ENSP00000321573:L168M;ENSP00000321646:L168M;ENSP00000396803:L62M	ENSP00000321573:L168M	L	-	1	2	DCBLD2	100051064	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.570000	0.73996	2.648000	0.89879	0.655000	0.94253	CTG	DCBLD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000057019		0.383	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	-	0	52	0	G	NM_080927		98568374	-1	tier1	-	no_errors	ENST00000326857	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	T	T	98568374	G	T	98568374	3	4	54	1	0	0	0	0	1	0	0	0	4290	962	34	3	1881	3	DCBLD2	3	98568374	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1365531	98568374	99454056	84	13378											
COL8A1	1295	genome.wustl.edu	37	chr3	99514427	99514427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcctggccttccaggacCcccaggccctccaggacctc	6	5	9	21	0	0	0	0	0	0	0	3	2	2	2	9	4	1	0	9	4	0	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:99514427C>A	ENST00000261037.3	+	5	2062	c.1682C>A	c.(1681-1683)cCc>cAc	p.P561H	COL8A1_ENST00000273342.4_Missense_Mutation_p.P561H	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	561	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CTTccaggacccccaggccct	0.647																																																	0													24	28	26					3																	99514427		2203	4299	6502	SO:0001583	missense	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"Collagens"	2215	protein-coding gene	gene with protein product		120251	"chromosome 3 open reading frame 7"	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1682C>A	3.37:g.99514427C>A	ENSP00000261037:p.Pro561His		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.P561H	ENST00000261037.3	37	c.1682	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	C	10.49	1.366123	0.24684	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.95001	-3.58;-3.58	5.68	4.81	0.61882	.	0.168587	0.53938	D	0.000053	D	0.97213	0.9089	M	0.91818	3.245	0.58432	D	0.999994	D;D	0.67145	0.996;0.996	D;D	0.65323	0.934;0.934	D	0.96824	0.9606	10	0.38643	T	0.18	.	12.2022	0.54333	0.0:0.9174:0.0:0.0826	.	562;561	E7EPK9;P27658	.;CO8A1_HUMAN	H	561	ENSP00000261037:P561H;ENSP00000273342:P561H	ENSP00000261037:P561H	P	+	2	0	COL8A1	100997117	0.800000	0.28916	1.000000	0.80357	0.986000	0.74619	1.953000	0.40352	1.412000	0.46977	0.563000	0.77884	CCC	COL8A1	-	pfam_Collagen	ENSG00000144810		0.647	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	-	0	43	0	C	NM_001850		99514427	1	tier1	-	no_errors	ENST00000261037	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	A	A	99514427	C	A	99514427	3	1	54	1	0	0	0	0	1	0	0	0	3712	623	22	3	1688	3	COL8A1	3	99514427	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	946053	99514427	98508003	85	13379											
FILIP1L	11259	genome.wustl.edu	37	chr3	99568551	99568551	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccttcgttctagagtctCatattcatcttctgttttca	8	19	4	10	1	6	1	3	0	4	1	8	1	6	1	1	0	1	2	1	0	3	9			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:99568551C>A	ENST00000354552.3	-	5	2439	c.1969G>T	c.(1969-1971)Gag>Tag	p.E657*	FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.E417*|FILIP1L_ENST00000331335.5_Nonsense_Mutation_p.E657*|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.E417*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.E233*|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	657						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TCTAGAGTCTCATATTCATCT	0.368																																																	0													182	162	168					3																	99568551		1875	4105	5980	SO:0001587	stop_gained	0				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"downregulated in ovarian cancer 1", "GPBP-interacting protein of 130 kDa"	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1969G>T	3.37:g.99568551C>A	ENSP00000346560:p.Glu657*		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Nonsense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.E657*	ENST00000354552.3	37	c.1969	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.186024	0.94885	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	.	.	.	5.89	5.89	0.94794	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-15.9146	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	X	657;233;417;657;417;403;417	.	ENSP00000327880:E657X	E	-	1	0	FILIP1L	101051241	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.071000	0.71229	2.793000	0.96121	0.655000	0.94253	GAG	FILIP1L	-	NULL	ENSG00000168386		0.368	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	-	0	86	0	C	NM_014890		99568551	-1	tier1	-	no_errors	ENST00000354552	ensembl	human	known	74_37	nonsense	34.85	43	23	SNP	1.000	A	A	99568551	C	A	99568551	4	1	54	1	0	0	0	0	0	1	0	0	5917	835	29	3	1467	3	FILIP1L	3	99568551	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	54124	99568551	98453879	86	13380											
CCDC80	151887	genome.wustl.edu	37	chr3	112358493	112358493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcggctctgttgggCgagctagtctcaacacgggc	5	8	17	11	3	2	0	1	0	2	0	3	1	2	0	0	5	2	4	0	5	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:112358493C>T	ENST00000206423.3	-	2	1213	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CCDC80_ENST00000439685.2_Missense_Mutation_p.R87H|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	87					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGTTGGGCGAGCTAGTCT	0.602																																																	0													72	68	70					3																	112358493		2203	4300	6503	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.260G>A	3.37:g.112358493C>T	ENSP00000206423:p.Arg87His		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.R87H	ENST00000206423.3	37	c.260	CCDS2968.1	3	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755273	0.15846	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.44881	0.91;0.91	5.35	-5.15	0.02866	.	1.257190	0.05262	N	0.515973	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12016	-1.0564	10	0.15499	T	0.54	-0.0491	1.9051	0.03275	0.1164:0.2021:0.2475:0.434	.	98;87;87	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	H	87	ENSP00000206423:R87H;ENSP00000411814:R87H	ENSP00000206423:R87H	R	-	2	0	CCDC80	113841183	0.000000	0.05858	0.000000	0.03702	0.603000	0.37013	-1.306000	0.02735	-1.383000	0.02106	0.650000	0.86243	CGC	CCDC80	-	NULL	ENSG00000091986		0.602	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	-	0	71	0	C	NM_199511		112358493	-1	tier1	-	no_errors	ENST00000206423	ensembl	human	known	74_37	missense	20.69	46	12	SNP	0.000	T	T	112358493	C	T	112358493	3	4	54	1	0	0	0	0	1	0	0	0	2861	768	27	1	2620	1	CCDC80	3	112358493	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	12789942	112358493	85663937	87	13381											
WDR52	55779	genome.wustl.edu	37	chr3	113015691	113015691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagatttaccacacggcCaaacttgctgatcatgagct	11	12	7	11	1	2	3	1	2	1	1	2	3	2	3	2	1	4	2	2	1	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:113015691C>A	ENST00000393845.2	-	33	5185	c.5119G>T	c.(5119-5121)Ggc>Tgc	p.G1707C	WDR52_ENST00000308346.6_Missense_Mutation_p.G310C	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACCACACGGCCAAACTTGCTG	0.423																																																	0													161	133	141					3																	113015691		692	1591	2283	SO:0001583	missense	0																														ENST00000393845.2:c.5119G>T	3.37:g.113015691C>A	ENSP00000377428:p.Gly1707Cys			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1707C	ENST00000393845.2	37	c.5119	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.27|18.27	3.586938|3.586938	0.66105|0.66105	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000308346|ENST00000465636	T;T|.	0.45276|.	0.9;0.9|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78672|0.78672	0.4320|0.4320	M|M	0.79258|0.79258	2.445|2.445	0.49299|0.49299	D|D	0.999779|0.999779	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.78396|0.78396	-0.2220|-0.2220	10|5	0.72032|.	D|.	0.01|.	-12.9409|-12.9409	19.5409|19.5409	0.95273|0.95273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1707|.	Q96MT7-2|.	.|.	C|L	1707;310|843	ENSP00000377428:G1707C;ENSP00000311497:G310C|.	ENSP00000311497:G310C|.	G|W	-|-	1|2	0|0	WDR52|WDR52	114498381|114498381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.398000|0.398000	0.30690|0.30690	5.677000|5.677000	0.68142|0.68142	2.614000|2.614000	0.88457|0.88457	0.561000|0.561000	0.74099|0.74099	GGC|TGG	WDR52	-	NULL	ENSG00000206530		0.423	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		-	0	53	0	C			113015691	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	A	A	113015691	C	A	113015691	3	1	54	1	0	0	0	0	1	0	0	0	17353	594	21	3	457	3	WDR52	3	113015691	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	657198	113015691	85006739	88	13382											
C3orf30	152405	genome.wustl.edu	37	chr3	118865907	118865907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaacttctgagcagactGacctcagattgtatggcctc	10	10	10	11	0	2	4	1	2	1	2	3	5	2	5	2	2	2	2	2	2	2	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:118865907G>T	ENST00000295622.1	+	1	911	c.871G>T	c.(871-873)Gac>Tac	p.D291Y	IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	291										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TGAGCAGACTGACCTCAGATT	0.493																																																	0													82	79	80					3																	118865907		2203	4300	6503	SO:0001583	missense	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.871G>T	3.37:g.118865907G>T	ENSP00000295622:p.Asp291Tyr		A1L4B7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.D291Y	ENST00000295622.1	37	c.871	CCDS2984.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.88|13.88	2.368928|2.368928	0.42003|0.42003	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150;ENST00000473121;ENST00000492792	T|.	0.32988|.	1.43|.	4.35|4.35	2.48|2.48	0.30137|0.30137	.|.	0.561275|.	0.16204|.	N|.	0.224781|.	T|.	0.41926|.	0.1180|.	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	P;D|.	0.89917|.	0.932;1.0|.	P;D|.	0.73380|.	0.52;0.98|.	T|.	0.25745|.	-1.0123|.	10|.	0.37606|.	T|.	0.19|.	-1.09|-1.09	9.1216|9.1216	0.36791|0.36791	0.0:0.1604:0.6736:0.166|0.0:0.1604:0.6736:0.166	.|.	291;291|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	Y|L	291|254;83;25	ENSP00000295622:D291Y|.	ENSP00000295622:D291Y|.	D|X	+|+	1|2	0|2	C3orf30|C3orf30	120348597|120348597	0.310000|0.310000	0.24527|0.24527	0.002000|0.002000	0.10522|0.10522	0.006000|0.006000	0.05464|0.05464	2.606000|2.606000	0.46291|0.46291	0.717000|0.717000	0.32145|0.32145	0.591000|0.591000	0.81541|0.81541	GAC|TGA	C3orf30	-	NULL	ENSG00000163424		0.493	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	-	0	40	0	G	NM_152539		118865907	1	tier1	-	no_errors	ENST00000295622	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.008	T	T	118865907	G	T	118865907	3	4	54	1	0	0	0	0	1	0	0	0	2227	1290	45	3	873	3	C3orf30	3	118865907	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	5850216	118865907	79156523	89	13383											
H1FOO	132243	genome.wustl.edu	37	chr3	129268029	129268029	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgcagaagcctcctccCaagccaggcgcagccacaga	12	3	11	15	1	0	2	0	0	0	2	2	2	2	2	5	2	4	2	5	2	3	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:129268029C>A	ENST00000324382.2	+	3	569	c.564C>A	c.(562-564)ccC>ccA	p.P188P	H1FOO_ENST00000503977.1_Silent_p.P49P	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	188					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						AGCCTCCTCCCAAGCCAGGCG	0.642																																																	0													33	25	27					3																	129268029		2175	4272	6447	SO:0001819	synonymous_variant	0			AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"Histones / Replication-independent"	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.564C>A	3.37:g.129268029C>A			Q86WT7	Silent	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.P188	ENST00000324382.2	37	c.564	CCDS3064.1	3																																																																																			H1FOO	-	NULL	ENSG00000178804		0.642	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FOO	HGNC	protein_coding	OTTHUMT00000356100.3	-	0	51	0	C	NM_153833		129268029	1	tier1	-	no_errors	ENST00000324382	ensembl	human	known	74_37	silent	25.00	30	10	SNP	0.010	A	A	129268029	C	A	129268029	2	1	54	1	0	0	0	0	0	0	0	1	6949	581	21	3		3	H1FOO	3	129268029	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	10402122	129268029	68754401	90	13384											
MRPL3	11222	genome.wustl.edu	37	chr3	131188618	131188618	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagactctgccaatatcCtaaatgagaaaactaaagtt	16	9	7	9	0	1	2	0	1	1	2	2	3	2	2	3	1	2	1	3	1	8	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:131188618C>A	ENST00000264995.3	-	8	886		c.e8-1		MRPL3_ENST00000425847.2_Splice_Site	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3						translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TGCCAATATCCTAAATGAGAA	0.308																																																	0													88	80	82					3																	131188618		2203	4300	6503	SO:0001630	splice_region_variant	0			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"Mitochondrial ribosomal proteins / large subunits"	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.739-1G>T	3.37:g.131188618C>A			Q6IBT2	Splice_Site	SNP	-	e8-1	ENST00000264995.3	37	c.739-1	CCDS3071.1	3	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686069	0.68157	.	.	ENSG00000114686	ENST00000264995;ENST00000511168;ENST00000425847;ENST00000507669	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5725	0.87939	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MRPL3	132671308	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.585000	0.74062	2.435000	0.82474	0.650000	0.86243	.	MRPL3	-	-	ENSG00000114686		0.308	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3	-	0	68	0	C	NM_007208	Intron	131188618	-1	tier1	-	no_errors	ENST00000264995	ensembl	human	known	74_37	splice_site	10.53	51	6	SNP	1.000	A	A	131188618	C	A	131188618	5	1	54	1	0	0	0	0	0	0	1	0	9831	695	24	3	320	3	MRPL3	3	131188618	Splice_Site	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1920589	131188618	66833812	91	13385											
DNAJC13	23317	genome.wustl.edu	37	chr3	132211267	132211267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgattgtaggcgcctgatGatagagaagattgctgccca	11	11	12	7	1	0	5	0	3	0	2	0	6	0	5	2	1	2	2	2	1	4	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:132211267G>T	ENST00000260818.6	+	33	3881	c.3633G>T	c.(3631-3633)atG>atT	p.M1211I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1211					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GGCGCCTGATGATAGAGAAGA	0.378																																																	0													183	198	193					3																	132211267		2203	4300	6503	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3633G>T	3.37:g.132211267G>T	ENSP00000260818:p.Met1211Ile		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.M1211I	ENST00000260818.6	37	c.3633	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099830	0.76983	.	.	ENSG00000138246	ENST00000260818	T	0.20463	2.07	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	M	0.72894	2.215	0.80722	D	1	P	0.41159	0.74	P	0.48425	0.577	T	0.11616	-1.0580	10	0.72032	D	0.01	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	1211	O75165	DJC13_HUMAN	I	1211	ENSP00000260818:M1211I	ENSP00000260818:M1211I	M	+	3	0	DNAJC13	133693957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.861000	0.98227	0.655000	0.94253	ATG	DNAJC13	-	superfamily_ARM-type_fold	ENSG00000138246		0.378	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0	38	0	G	NM_015268		132211267	1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	25.00	36	12	SNP	1.000	T	T	132211267	G	T	132211267	3	4	54	1	0	0	0	0	1	0	0	0	4646	1290	45	3	3759	3	DNAJC13	3	132211267	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1022649	132211267	65811163	92	13386											
C3orf33	285315	genome.wustl.edu	37	chr3	155493558	155493558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaaaccattctcagttattCggcgtaatcgtccacgtagt	10	13	7	11	4	1	0	1	0	1	0	5	0	2	0	2	1	1	3	2	1	5	6	rs547864770		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:155493558C>T	ENST00000340171.2	-	3	352	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	C3orf33_ENST00000534941.1_Missense_Mutation_p.R42Q			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	85					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)	p.R36Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTCAGTTATTCGGCGTAATCG	0.308													C|||	1	0.000199681	8e-04	0	5008	,	,		14682	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											103	103	103					3																	155493558		1811	4066	5877	SO:0001583	missense	0			AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.254G>A	3.37:g.155493558C>T	ENSP00000342512:p.Arg85Gln		A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	superfamily_Staphylococal_nuclease_OB-fold	p.R85Q	ENST00000340171.2	37	c.254		3	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322119	0.23994	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.46819	0.86;0.86	5.45	1.63	0.23807	.	0.528800	0.19690	N	0.108289	T	0.29355	0.0731	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.16630	-1.0396	10	0.22706	T	0.39	-2.4076	9.1843	0.37160	0.0:0.6476:0.0:0.3524	.	85	Q6P1S2	CC033_HUMAN	Q	42;85;85	ENSP00000445446:R42Q;ENSP00000342512:R85Q	ENSP00000342512:R85Q	R	-	2	0	C3orf33	156976252	0.585000	0.26774	0.805000	0.32314	0.982000	0.71751	0.247000	0.18179	0.671000	0.31185	-0.137000	0.14449	CGA	C3orf33	-	superfamily_Staphylococal_nuclease_OB-fold	ENSG00000174928		0.308	C3orf33-001	KNOWN	basic	protein_coding	C3orf33	HGNC	protein_coding	OTTHUMT00000351167.1	-	0	109	0	C	NM_173657		155493558	-1	tier1	-	no_errors	ENST00000340171	ensembl	human	known	74_37	missense	21.62	87	24	SNP	0.142	T	T	155493558	C	T	155493558	3	4	54	1	0	0	0	0	1	0	0	0	2230	884	31	1	642	1	C3orf33	3	155493558	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	23282291	155493558	42528872	93	13387											
GMPS	8833	genome.wustl.edu	37	chr3	155611407	155611407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacgggaaagtcatagaccGaagagtgagggaactgttcg	13	7	15	6	3	1	3	1	1	0	2	2	6	1	5	1	2	2	2	1	2	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:155611407G>A	ENST00000496455.2	+	2	463	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	43	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GTCATAGACCGAAGAGTGAGG	0.473			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													93	90	91					3																	155611407		1963	4152	6115	SO:0001583	missense	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.128G>A	3.37:g.155611407G>A	ENSP00000419851:p.Arg43Gln		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.R43Q	ENST00000496455.2	37	c.128	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.026711	0.97216	.	.	ENSG00000163655	ENST00000496455;ENST00000541628	D	0.89939	-2.59	5.93	5.93	0.95920	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.96959	0.9007	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97631	1.0142	10	0.87932	D	0	-8.4054	20.334	0.98729	0.0:0.0:1.0:0.0	.	43	P49915	GUAA_HUMAN	Q	43	ENSP00000419851:R43Q	ENSP00000419851:R43Q	R	+	2	0	GMPS	157094101	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.597000	0.98273	2.808000	0.96608	0.551000	0.68910	CGA	GMPS	-	pfam_GATASE,tigrfam_GMP_synth_N	ENSG00000163655		0.473	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	-	0	58	0	G			155611407	1	tier1	-	no_errors	ENST00000496455	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	A	A	155611407	G	A	155611407	3	1	54	1	0	0	0	0	1	0	0	0	6524	1058	37	1	134	1	GMPS	3	155611407	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	117849	155611407	42411023	94	13388											
MLF1	4291	genome.wustl.edu	37	chr3	158289110	158289110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttcaggatgctgaacagCagttttgaggatgacccctt	10	12	11	8	0	1	3	1	3	0	0	1	5	1	5	2	2	3	4	2	2	1	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:158289110C>T	ENST00000355893.5	+	1	159	c.21C>T	c.(19-21)agC>agT	p.S7S	MLF1_ENST00000484955.1_5'UTR|RP11-538P18.2_ENST00000475981.1_RNA|MLF1_ENST00000392822.3_5'UTR|RP11-538P18.2_ENST00000479233.1_RNA|MLF1_ENST00000482628.1_5'UTR|MLF1_ENST00000469452.1_5'UTR|MLF1_ENST00000471745.1_5'UTR|MLF1_ENST00000359117.5_5'UTR|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000478894.2_5'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	7					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TGCTGAACAGCAGTTTTGAGG	0.552			T	NPM1	AML																																			Dom	yes		3	3q25.1	4291	myeloid leukemia factor 1		L	0													60	60	60					3																	158289110		2202	4300	6502	SO:0001819	synonymous_variant	0			L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"myeloid leukemia factor 1 variant 1", "myeloid leukemia factor 1 variant 2", "myeloid leukemia factor 1 variant 3"	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.21C>T	3.37:g.158289110C>T			E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Silent	SNP	pfam_Myeloid_leukemia_factor	p.S7	ENST00000355893.5	37	c.21	CCDS3182.1	3																																																																																			MLF1	-	NULL	ENSG00000178053		0.552	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLF1	HGNC	protein_coding	OTTHUMT00000352164.3	-	0	55	0	C	NM_022443		158289110	1	tier1	-	no_errors	ENST00000355893	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.998	T	T	158289110	C	T	158289110	2	4	54	1	0	0	0	0	0	0	0	1	9652	709	25	3		3	MLF1	3	158289110	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2677703	158289110	39733320	95	13389											
MCF2L2	23101	genome.wustl.edu	37	chr3	183097171	183097171	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactctgggaacgtgatGatgggggcgccatcctcccc	9	7	13	12	2	1	2	0	2	1	0	3	4	3	3	4	3	2	0	4	3	3	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:183097171G>T	ENST00000328913.3	-	3	486	c.189C>A	c.(187-189)atC>atA	p.I63I	MCF2L2_ENST00000447025.2_Silent_p.I63I|MCF2L2_ENST00000414362.2_Silent_p.I63I|MCF2L2_ENST00000473233.1_Silent_p.I63I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	63	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGAACGTGATGATGGGGGCGC	0.527																																																	0													112	95	101					3																	183097171		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"Rho guanine nucleotide exchange factors"	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.189C>A	3.37:g.183097171G>T			O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I63	ENST00000328913.3	37	c.189	CCDS3243.1	3																																																																																			MCF2L2	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000053524		0.527	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	-	0	55	0	G	NM_015078		183097171	-1	tier1	-	no_errors	ENST00000328913	ensembl	human	known	74_37	silent	20.83	38	10	SNP	1.000	T	T	183097171	G	T	183097171	2	4	54	1	0	0	0	0	0	0	0	1	9418	1280	45	3		3	MCF2L2	3	183097171	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	24808061	183097171	14925259	96	13390											
MASP1	5648	genome.wustl.edu	37	chr3	186943175	186943175	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcattcagcactgggctctCcaacagctccaccagagcca	10	6	9	16	0	2	1	1	0	1	1	4	1	3	1	4	2	4	4	4	2	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:186943175C>A	ENST00000337774.5	-	13	2067	c.1678G>T	c.(1678-1680)Gag>Tag	p.E560*		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	560	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTGGGCTCTCCAACAGCTCC	0.562																																																	0													197	174	182					3																	186943175		2203	4300	6503	SO:0001587	stop_gained	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1678G>T	3.37:g.186943175C>A	ENSP00000336792:p.Glu560*		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Nonsense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E560*	ENST00000337774.5	37	c.1678	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	C	38	7.230244	0.98150	.	.	ENSG00000127241	ENST00000337774	.	.	.	5.9	-1.66	0.08265	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	6.1742	0.20434	0.0:0.4943:0.2226:0.2831	.	.	.	.	X	560	.	ENSP00000336792:E560X	E	-	1	0	MASP1	188425869	0.000000	0.05858	0.000000	0.03702	0.696000	0.40369	-0.085000	0.11250	-0.209000	0.10156	0.563000	0.77884	GAG	MASP1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000127241		0.562	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0	76	0	C	NM_001879		186943175	-1	tier1	-	no_errors	ENST00000337774	ensembl	human	known	74_37	nonsense	44.55	56	45	SNP	0.000	A	A	186943175	C	A	186943175	4	1	54	1	0	0	0	0	0	1	0	0	9360	864	30	3	437	3	MASP1	3	186943175	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3846004	186943175	11079255	97	13391											
LEPREL1	55214	genome.wustl.edu	37	chr3	189688652	189688652	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgaattctcctccttCaaagtcatcattcatatata	14	15	3	9	0	5	1	4	1	1	0	7	2	6	1	2	0	0	0	2	0	7	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:189688652C>A	ENST00000319332.5	-	13	2043	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	LEPREL1_ENST00000427335.2_Nonsense_Mutation_p.E435*	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	616	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCTCCTTCAAAGTCATCA	0.323																																																	0													105	104	104					3																	189688652		2203	4296	6499	SO:0001587	stop_gained	0				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 2"	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1846G>T	3.37:g.189688652C>A	ENSP00000316881:p.Glu616*		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Nonsense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E616*	ENST00000319332.5	37	c.1846	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	41	9.028731	0.99040	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	.	.	.	5.9	5.9	0.94986	.	0.234676	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.1822	19.2555	0.93944	0.0:1.0:0.0:0.0	.	.	.	.	X	616;435	.	.	E	-	1	0	LEPREL1	191171346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.463000	0.80869	2.786000	0.95864	0.643000	0.83706	GAA	LEPREL1	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000090530		0.323	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	-	0	28	0	C	NM_018192		189688652	-1	tier1	-	no_errors	ENST00000319332	ensembl	human	known	74_37	nonsense	40.91	13	9	SNP	1.000	A	A	189688652	C	A	189688652	4	1	54	1	0	0	0	0	0	1	0	0	8758	835	29	3	292	3	LEPREL1	3	189688652	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2745477	189688652	8333778	98	13392											
MFI2	4241	genome.wustl.edu	37	chr3	196748333	196748333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgtcccctgccccttcCgccaggcacctgcggaggag	5	5	12	19	3	0	0	0	0	0	0	2	2	2	2	8	3	2	1	8	3	0	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr3:196748333C>T	ENST00000296350.5	-	6	767	c.654G>A	c.(652-654)gcG>gcA	p.A218A	MFI2_ENST00000296351.4_Silent_p.A218A	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	218	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CTGCCCCTTCCGCCAGGCACC	0.662																																																	0													70	62	64					3																	196748333		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.654G>A	3.37:g.196748333C>T			Q9BQE2	Silent	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.A218	ENST00000296350.5	37	c.654	CCDS3325.1	3																																																																																			MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	ENSG00000163975		0.662	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	-	0	52	0	C			196748333	-1	tier1	-	no_errors	ENST00000296350	ensembl	human	known	74_37	silent	30.43	32	14	SNP	0.198	T	T	196748333	C	T	196748333	2	4	54	1	0	0	0	0	0	0	0	1	9560	639	23	1		1	MFI2	3	196748333	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7059681	196748333	1274097	99	13393											
KIAA1530	57654	genome.wustl.edu	37	chr4	1374728	1374728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccgctcgacccggaaGacagggctcgtgagcagcgg	8	3	17	13	6	0	2	0	1	0	1	2	5	0	3	2	4	2	3	2	4	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:1374728G>T	ENST00000389851.4	+	12	2260	c.1813G>T	c.(1813-1815)Gac>Tac	p.D605Y	UVSSA_ENST00000507531.1_Missense_Mutation_p.D605Y|UVSSA_ENST00000512728.1_Missense_Mutation_p.D156Y|UVSSA_ENST00000511563.1_Missense_Mutation_p.D156Y|UVSSA_ENST00000511216.1_Missense_Mutation_p.D605Y	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	605					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										CGACCCGGAAGACAGGGCTCG	0.677																																																	0													48	51	50					4																	1374728		2202	4300	6502	SO:0001583	missense	0			BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"KIAA1530"	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.1813G>T	4.37:g.1374728G>T	ENSP00000374501:p.Asp605Tyr		A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Missense_Mutation	SNP	pfam_DUF2043,superfamily_ENTH_VHS	p.D605Y	ENST00000389851.4	37	c.1813	CCDS33938.1	4	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480460	0.44044	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531;ENST00000511563;ENST00000512728	T;T;T;T;T	0.51574	1.23;1.23;1.23;0.7;0.7	4.56	3.69	0.42338	.	0.135309	0.64402	D	0.000003	T	0.69415	0.3108	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.75079	-0.3444	10	0.87932	D	0	.	14.3403	0.66622	0.0:0.1495:0.8505:0.0	.	605	Q2YD98	K1530_HUMAN	Y	605;605;605;156;156	ENSP00000425130:D605Y;ENSP00000374501:D605Y;ENSP00000421741:D605Y;ENSP00000423340:D156Y;ENSP00000427701:D156Y	ENSP00000374501:D605Y	D	+	1	0	KIAA1530	1364728	1.000000	0.71417	0.496000	0.27539	0.004000	0.04260	8.514000	0.90545	0.876000	0.35872	0.561000	0.74099	GAC	UVSSA	-	pfam_DUF2043	ENSG00000163945		0.677	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVSSA	HGNC	protein_coding	OTTHUMT00000359480.1	-	0	49	0	G	NM_020894		1374728	1	tier1	-	no_errors	ENST00000389851	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	T	T	1374728	G	T	1374728	3	4	54	1	0	0	0	0	1	0	0	0	8268	942	33	3	1855	3	KIAA1530	4	1374728	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		1374728	189779548	100	13394											
MFSD10	10227	genome.wustl.edu	37	chr4	2933310	2933310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcaacttccccgccaGggtggatccgccgggcatag	7	5	14	15	4	0	0	0	0	0	0	2	1	2	1	5	4	2	3	5	4	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:2933310G>T	ENST00000329687.4	-	8	1529	c.995C>A	c.(994-996)cCt>cAt	p.P332H	MFSD10_ENST00000514800.1_Missense_Mutation_p.P332H|MFSD10_ENST00000507555.1_Intron|MFSD10_ENST00000355443.4_Missense_Mutation_p.P332H|MFSD10_ENST00000508221.1_Missense_Mutation_p.P332H	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	332					apoptotic process (GO:0006915)|tetracycline transport (GO:0015904)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)	tetracycline transporter activity (GO:0008493)			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTCCCCGCCAGGGTGGATCCG	0.652																																																	0													27	30	29					4																	2933310		2201	4300	6501	SO:0001583	missense	0			L11669	CCDS3365.1	4p16.3	2008-03-03			ENSG00000109736	ENSG00000109736			16894	protein-coding gene	gene with protein product	"tetracycline transporter like protein"	610977				8353488, 17362938	Standard	NM_001120		Approved	TETRAN, IT10C3	uc003gfz.3	Q14728	OTTHUMG00000122081	ENST00000329687.4:c.995C>A	4.37:g.2933310G>T	ENSP00000332646:p.Pro332His		Q07706	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P332H	ENST00000329687.4	37	c.995	CCDS3365.1	4	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301095	0.40694	.	.	ENSG00000109736	ENST00000514800;ENST00000355443;ENST00000329687;ENST00000508221	T;T;T;T	0.80393	-1.37;-1.37;-1.37;0.27	4.19	3.34	0.38264	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059788	0.64402	D	0.000002	D	0.88665	0.6498	M	0.80422	2.495	0.80722	D	1	D;P;P	0.89917	1.0;0.909;0.647	D;P;P	0.85130	0.997;0.497;0.566	D	0.88462	0.3056	10	0.59425	D	0.04	-8.5615	11.7509	0.51847	0.0872:0.0:0.9128:0.0	.	332;332;332	D6RIZ4;D6RE79;Q14728	.;.;MFS10_HUMAN	H	332	ENSP00000426907:P332H;ENSP00000347619:P332H;ENSP00000332646:P332H;ENSP00000425757:P332H	ENSP00000332646:P332H	P	-	2	0	MFSD10	2903108	1.000000	0.71417	0.103000	0.21229	0.089000	0.18198	6.400000	0.73252	0.738000	0.32606	0.561000	0.74099	CCT	MFSD10	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000109736		0.652	MFSD10-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD10	HGNC	protein_coding	OTTHUMT00000358072.2	-	0	67	0	G	NM_001120		2933310	-1	tier1	-	no_errors	ENST00000329687	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.987	T	T	2933310	G	T	2933310	3	4	54	1	0	0	0	0	1	0	0	0	9566	1000	35	3	392	3	MFSD10	4	2933310	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1558582	2933310	188220966	101	13395											
ZNF518B	85460	genome.wustl.edu	37	chr4	10445662	10445662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggcgtggcaacatgaGccttcctggccactctgctt	7	10	10	14	1	1	1	0	1	1	0	2	1	2	1	3	3	3	2	3	3	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:10445662G>T	ENST00000326756.3	-	3	2729	c.2291C>A	c.(2290-2292)gCt>gAt	p.A764D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	764					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GGCAACATGAGCCTTCCTGGC	0.458																																																	0													94	95	95					4																	10445662		2203	4300	6503	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2291C>A	4.37:g.10445662G>T	ENSP00000317614:p.Ala764Asp		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A764D	ENST00000326756.3	37	c.2291	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966563	0.34659	.	.	ENSG00000178163	ENST00000326756	T	0.01613	4.73	6.02	4.09	0.47781	.	1.169980	0.06296	N	0.700071	T	0.01905	0.0060	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.46925	-0.9156	10	0.36615	T	0.2	-0.1037	12.1596	0.54098	0.0:0.1216:0.7377:0.1407	.	764	Q9C0D4	Z518B_HUMAN	D	764	ENSP00000317614:A764D	ENSP00000317614:A764D	A	-	2	0	ZNF518B	10054760	0.000000	0.05858	0.650000	0.29550	0.589000	0.36550	0.844000	0.27654	1.513000	0.48852	0.655000	0.94253	GCT	ZNF518B	-	NULL	ENSG00000178163		0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	-	0	36	0	G	NM_053042		10445662	-1	tier1	-	no_errors	ENST00000326756	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.048	T	T	10445662	G	T	10445662	3	4	54	1	0	0	0	0	1	0	0	0	18011	971	34	3	937	3	ZNF518B	4	10445662	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7512352	10445662	180708614	102	13396											
KLF3	51274	genome.wustl.edu	37	chr4	38690448	38690448	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgagcatgccttcttcCagcccaccgataaaaaaata	13	9	8	11	1	1	1	0	1	1	0	2	2	2	1	4	1	3	2	4	1	5	5	rs145278110		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:38690448C>A	ENST00000261438.5	+	3	605	c.300C>A	c.(298-300)tcC>tcA	p.S100S	KLF3_ENST00000514033.1_Silent_p.S100S	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	100	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGCCTTCTTCCAGCCCACCGA	0.622																																																	0													74	73	73					4																	38690448		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.300C>A	4.37:g.38690448C>A			Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S100	ENST00000261438.5	37	c.300	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.622	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2		0	46	0	C			38690448	1			no_errors	ENST00000261438	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.854	A	A	38690448	C	A	38690448	2	1	54	1	0	0	0	0	0	0	0	1	8374	581	21	3		3	KLF3	4	38690448	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	28244786	38690448	152463828	103	13397											
CCDC158	339965	genome.wustl.edu	37	chr4	77288833	77288833	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggctgtcaactcttCtactactttgcgcagcatct	6	17	6	12	1	5	0	1	0	4	0	5	0	5	0	0	1	5	3	0	1	3	6	rs17001824	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:77288833C>A	ENST00000388914.3	-	11	1596	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	482										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTCAACTCTTCTACTACTTTG	0.453																																																	0													72	70	70					4																	77288833		1904	4120	6024	SO:0001587	stop_gained	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1444G>T	4.37:g.77288833C>A	ENSP00000373566:p.Glu482*		Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E482*	ENST00000388914.3	37	c.1444	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	41	9.136071	0.99077	.	.	ENSG00000163749	ENST00000388914	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6416	0.88138	0.0:1.0:0.0:0.0	.	.	.	.	X	482	.	.	E	-	1	0	CCDC158	77507857	0.999000	0.42202	0.963000	0.40424	0.995000	0.86356	5.178000	0.65037	2.711000	0.92665	0.563000	0.77884	GAA	CCDC158	-	NULL	ENSG00000163749		0.453	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	-	0	75	0	C	NM_001042784		77288833	-1	tier1	-	no_errors	ENST00000388914	ensembl	human	known	74_37	nonsense	11.32	47	6	SNP	0.993	A	A	77288833	C	A	77288833	4	1	54	1	0	0	0	0	0	1	0	0	2797	922	32	3	1953	3	CCDC158	4	77288833	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	38598385	77288833	113865443	104	13398											
DKK2	27123	genome.wustl.edu	37	chr4	107847018	107847018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgcttcttttttctcCgacacaccatgcaggccgat	7	11	9	14	3	2	0	0	0	2	0	3	2	2	0	3	2	2	3	3	2	0	4	rs541386879		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:107847018C>A	ENST00000285311.3	-	2	1016	c.311G>T	c.(310-312)cGg>cTg	p.R104L	DKK2_ENST00000513208.1_Missense_Mutation_p.R4L|DKK2_ENST00000510463.1_Missense_Mutation_p.R58L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	104	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTTTTTTCTCCGACACACCAT	0.507																																																	0													174	155	162					4																	107847018		2203	4300	6503	SO:0001583	missense	0			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.311G>T	4.37:g.107847018C>A	ENSP00000285311:p.Arg104Leu		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.R104L	ENST00000285311.3	37	c.311	CCDS3675.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.511088	0.96386	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.60040	0.22;0.26;0.33	5.42	5.42	0.78866	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.77909	0.4201	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.993	T	0.78152	-0.2315	10	0.51188	T	0.08	-15.3426	19.5778	0.95452	0.0:1.0:0.0:0.0	.	104;104	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	L	104;4;58	ENSP00000285311:R104L;ENSP00000421255:R4L;ENSP00000423797:R58L	ENSP00000285311:R104L	R	-	2	0	DKK2	108066467	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	7.410000	0.80065	2.704000	0.92352	0.467000	0.42956	CGG	DKK2	-	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	ENSG00000155011		0.507	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	HGNC	protein_coding	OTTHUMT00000253959.4	-	0	62	0	C			107847018	-1	tier1	-	no_errors	ENST00000285311	ensembl	human	novel	74_37	missense	29.63	19	8	SNP	1.000	A	A	107847018	C	A	107847018	3	1	54	1	0	0	0	0	1	0	0	0	4559	652	23	2	480	2	DKK2	4	107847018	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	30558185	107847018	83307258	105	13399											
ANK2	287	genome.wustl.edu	37	chr4	114276416	114276416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggggtagccggctctccGtgtggcagcctgatggaggg	5	7	20	9	2	1	1	0	1	1	0	2	3	1	2	3	6	2	3	3	6	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:114276416G>A	ENST00000357077.4	+	38	6695	c.6642G>A	c.(6640-6642)ccG>ccA	p.P2214P	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.P2181P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2214					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCGGCTCTCCGTGTGGCAGCC	0.507																																																	0													69	73	72					4																	114276416		2203	4299	6502	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6642G>A	4.37:g.114276416G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P2214	ENST00000357077.4	37	c.6642	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	18	0	G	NM_001148		114276416	1			no_errors	ENST00000357077	ensembl	human	known	74_37	silent	33.33	10	5	SNP	0.041	A	A	114276416	G	A	114276416	2	1	54	1	0	0	0	0	0	0	0	1	621	1132	40	1		1	ANK2	4	114276416	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6429398	114276416	76877860	106	13400											
PRSS12	8492	genome.wustl.edu	37	chr4	119219952	119219952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactcctgcatcttcactGtggcggcagttgtgtcttcc	6	14	9	12	1	3	0	1	0	2	0	5	0	5	0	2	2	2	3	2	2	1	4	rs34131974	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:119219952G>T	ENST00000296498.3	-	9	2055	c.1773C>A	c.(1771-1773)caC>caA	p.H591Q	PRSS12_ENST00000510903.1_5'Flank	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	591	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CATCTTCACTGTGGCGGCAGT	0.443																																																	0													152	138	143					4																	119219952		2203	4300	6503	SO:0001583	missense	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1773C>A	4.37:g.119219952G>T	ENSP00000296498:p.His591Gln		Q9UP16	Missense_Mutation	SNP	pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A	p.H591Q	ENST00000296498.3	37	c.1773	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	G	17.80	3.477669	0.63849	.	.	ENSG00000164099	ENST00000296498	T	0.33654	1.4	5.46	3.4	0.38934	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.043726	0.85682	D	0.000000	T	0.73916	0.3648	H	0.98802	4.335	0.42906	D	0.994248	D	0.89917	1.0	D	0.97110	1.0	D	0.84493	0.0612	10	0.87932	D	0	.	12.974	0.58527	0.1548:0.0:0.8452:0.0	.	591	P56730	NETR_HUMAN	Q	591	ENSP00000296498:H591Q	ENSP00000296498:H591Q	H	-	3	2	PRSS12	119439400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.623000	0.46435	1.311000	0.45024	0.591000	0.81541	CAC	PRSS12	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000164099		0.443	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	-	0	99	0	G			119219952	-1	tier1	-	no_errors	ENST00000296498	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	119219952	G	T	119219952	3	4	54	1	0	0	0	0	1	0	0	0	12657	1368	48	3	874	3	PRSS12	4	119219952	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4943536	119219952	71934324	107	13401											
BBS7	55212	genome.wustl.edu	37	chr4	122789146	122789146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatacagtaccttttgtgtaGctctgtgtcttgaggcagga	8	15	11	7	0	2	1	0	1	2	0	2	2	2	2	1	2	3	4	1	2	4	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:122789146G>T	ENST00000264499.4	-	2	275	c.92C>A	c.(91-93)gCt>gAt	p.A31D	RP11-63B13.1_ENST00000567769.1_lincRNA|BBS7_ENST00000506636.1_Missense_Mutation_p.A31D	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	31					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTTGTGTAGCTCTGTGTCT	0.373									Bardet-Biedl syndrome																																								0													159	150	153					4																	122789146		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.92C>A	4.37:g.122789146G>T	ENSP00000264499:p.Ala31Asp		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.A31D	ENST00000264499.4	37	c.92	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040473	0.35989	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.93307	-3.2;-3.2	5.56	4.69	0.59074	.	0.112601	0.64402	D	0.000011	D	0.91267	0.7247	L	0.57536	1.79	0.58432	D	0.999999	B	0.28400	0.21	B	0.29942	0.109	D	0.88052	0.2788	10	0.18710	T	0.47	-9.7604	16.0604	0.80836	0.0:0.1345:0.8655:0.0	.	31	Q8IWZ6	BBS7_HUMAN	D	31	ENSP00000264499:A31D;ENSP00000423626:A31D	ENSP00000264499:A31D	A	-	2	0	BBS7	123008596	1.000000	0.71417	0.769000	0.31535	0.921000	0.55340	5.828000	0.69307	1.279000	0.44446	0.655000	0.94253	GCT	BBS7	-	pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.373	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	-	0	93	0	G			122789146	-1	tier1	-	no_errors	ENST00000264499	ensembl	human	known	74_37	missense	13.56	51	8	SNP	1.000	T	T	122789146	G	T	122789146	3	4	54	1	0	0	0	0	1	0	0	0	1342	971	34	3	2132	3	BBS7	4	122789146	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3569194	122789146	68365130	108	13402											
PCDH10	57575	genome.wustl.edu	37	chr4	134072237	134072237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagactggaggtaagcggCgagttggactatgaagagag	12	6	18	5	2	0	3	0	1	0	2	0	7	0	5	0	5	1	3	0	5	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:134072237C>T	ENST00000264360.5	+	1	1768	c.942C>T	c.(940-942)ggC>ggT	p.G314G	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGGTAAGCGGCGAGTTGGACT	0.622																																																	0													65	60	62					4																	134072237		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.942C>T	4.37:g.134072237C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G314	ENST00000264360.5	37	c.942	CCDS34063.1	4																																																																																			PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	28	0	C	NM_032961		134072237	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.184	T	T	134072237	C	T	134072237	2	4	54	1	0	0	0	0	0	0	0	1	11546	755	27	1		1	PCDH10	4	134072237	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	11283091	134072237	57082039	109	13403											
SLC7A11	23657	genome.wustl.edu	37	chr4	139101836	139101836	+	Frame_Shift_Del	DEL	A	A	-																															tgggcatttgtatcgaagatAaatcagcccagcaactgcca																										TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr4:139101836delA	ENST00000280612.5	-	10	1504	c.1225delT	c.(1225-1227)tatfs	p.Y409fs	SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	409					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	TATCGAAGATAAATCAGCCCA	0.438																																																	0													66	66	66					4																	139101836		2203	4300	6503	SO:0001589	frameshift_variant	0			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1225delT	4.37:g.139101836delA	ENSP00000280612:p.Tyr409fs		A8K2U4	Frame_Shift_Del	DEL	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.Y409fs	ENST00000280612.5	37	c.1225	CCDS3742.1	4																																																																																			SLC7A11	-	pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000151012		0.438	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2		0	54	0	A			139101836	-1	tier1		no_errors	ENST00000280612	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	1.000	-	-	139101836	A	-	139101836	7	5	54	1	0	1	0	1	0	0	0	0	14739	362	13	0	292	0	SLC7A11	4	139101836	Frame_Shift_Del	DEL	A	TCGA-L5-A4OE-01A-11D-A27G-09	5029599	139101836	52052440	110	13404											
DNAH5	1767	genome.wustl.edu	37	chr5	13817729	13817729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtcatttgtggcaacgtCcagccgaccaaacatctgtg	10	9	9	13	2	2	0	1	0	1	0	3	1	3	0	4	1	3	1	4	1	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:13817729C>A	ENST00000265104.4	-	42	7020	c.6916G>T	c.(6916-6918)Gac>Tac	p.D2306Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2306	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGGCAACGTCCAGCCGACCA	0.393									Kartagener syndrome																																								0													148	136	140					5																	13817729		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6916G>T	5.37:g.13817729C>A	ENSP00000265104:p.Asp2306Tyr		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D2306Y	ENST00000265104.4	37	c.6916	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927044	0.92389	.	.	ENSG00000039139	ENST00000265104	D	0.90385	-2.66	5.74	5.74	0.90152	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98810	1.0743	10	0.87932	D	0	.	19.9222	0.97091	0.0:1.0:0.0:0.0	.	2306	Q8TE73	DYH5_HUMAN	Y	2306	ENSP00000265104:D2306Y	ENSP00000265104:D2306Y	D	-	1	0	DNAH5	13870729	1.000000	0.71417	0.952000	0.39060	0.924000	0.55760	7.789000	0.85783	2.716000	0.92895	0.650000	0.86243	GAC	DNAH5	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000039139		0.393	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	81	0	C	NM_001369		13817729	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	A	A	13817729	C	A	13817729	3	1	54	1	0	0	0	0	1	0	0	0	4618	855	30	3	7110	3	DNAH5	5	13817729	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		13817729	167097531	111	13405											
MYO10	4651	genome.wustl.edu	37	chr5	16704730	16704730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgaatcaccatggccGcgtggctcacttcctcttcc	5	9	10	17	3	3	0	2	0	1	0	5	1	5	0	5	3	0	1	5	3	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:16704730G>T	ENST00000513610.1	-	22	2688	c.2234C>A	c.(2233-2235)gCg>gAg	p.A745E	MYO10_ENST00000515803.1_Missense_Mutation_p.A84E|MYO10_ENST00000427430.2_Missense_Mutation_p.A102E|MYO10_ENST00000274203.9_Missense_Mutation_p.A102E|MYO10_ENST00000505695.1_Missense_Mutation_p.A84E|MYO10_ENST00000512061.1_5'UTR	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	745	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACCATGGCCGCGTGGCTCAC	0.552																																																	0													68	74	72					5																	16704730		2021	4178	6199	SO:0001583	missense	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2234C>A	5.37:g.16704730G>T	ENSP00000421280:p.Ala745Glu		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.A745E	ENST00000513610.1	37	c.2234	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098548	0.56183	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	T;D;D;D;D;T	0.96200	-0.96;-3.94;-3.94;-3.94;-3.94;-0.96	5.37	5.37	0.77165	.	.	.	.	.	D	0.98504	0.9501	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.977;0.994	D	0.99041	1.0824	9	0.54805	T	0.06	.	19.1172	0.93346	0.0:0.0:1.0:0.0	.	386;745	Q69YP8;Q9HD67	.;MYO10_HUMAN	E	745;84;102;84;102;756	ENSP00000421280:A745E;ENSP00000425051:A84E;ENSP00000274203:A102E;ENSP00000421170:A84E;ENSP00000391106:A102E;ENSP00000421309:A756E	ENSP00000274203:A102E	A	-	2	0	MYO10	16757730	1.000000	0.71417	0.330000	0.25442	0.088000	0.18126	9.798000	0.99111	2.509000	0.84616	0.563000	0.77884	GCG	MYO10	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000145555		0.552	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1		0	50	0	G	NM_012334		16704730	-1			no_errors	ENST00000513610	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.999	T	T	16704730	G	T	16704730	3	4	54	1	0	0	0	0	1	0	0	0	10100	1087	38	2	4022	2	MYO10	5	16704730	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2887001	16704730	164210530	112	13406											
CDH9	1007	genome.wustl.edu	37	chr5	26988397	26988397	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcaactgtatggaacAtataggtccagatgaataat	14	12	10	5	0	1	2	1	1	0	1	2	3	2	3	1	3	2	1	1	3	7	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:26988397A>T	ENST00000231021.4	-	2	216	c.44T>A	c.(43-45)aTg>aAg	p.M15K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	15					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTATGGAACATATAGGTCCA	0.343																																					Melanoma(8;187 585 15745 40864 52829)												0													141	145	143					5																	26988397		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.44T>A	5.37:g.26988397A>T	ENSP00000231021:p.Met15Lys		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.M15K	ENST00000231021.4	37	c.44	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	6.297	0.422883	0.11928	.	.	ENSG00000113100	ENST00000231021;ENST00000513289;ENST00000511822	T;T;T	0.56275	0.58;0.47;2.01	5.64	4.48	0.54585	.	0.357740	0.32952	N	0.005446	T	0.36358	0.0964	N	0.22421	0.69	0.09310	N	1	B;B	0.18013	0.025;0.001	B;B	0.20184	0.028;0.007	T	0.18429	-1.0337	9	.	.	.	.	10.4753	0.44661	0.9229:0.0:0.0771:0.0	.	15;15	E7EPN0;Q9ULB4	.;CADH9_HUMAN	K	15	ENSP00000231021:M15K;ENSP00000426239:M15K;ENSP00000422538:M15K	.	M	-	2	0	CDH9	27024154	0.216000	0.23585	0.003000	0.11579	0.070000	0.16714	4.458000	0.60095	0.969000	0.38237	0.482000	0.46254	ATG	CDH9	-	NULL	ENSG00000113100		0.343	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	56	0	A	NM_016279		26988397	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	43.40	30	23	SNP	0.019	T	T	26988397	A	T	26988397	3	4	54	1	0	0	0	0	1	0	0	0	3124	217	8	5	2369	5	CDH9	5	26988397	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	10283667	26988397	153926863	113	13407											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33549398	33549398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgccggccaggaactGgcagtgaaatggcctcaggt	11	6	15	9	1	1	1	1	1	0	0	1	3	1	3	3	6	2	1	3	6	3	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:33549398G>T	ENST00000504830.1	-	21	4551	c.4216C>A	c.(4216-4218)Cag>Aag	p.Q1406K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1321K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1406	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCAGGAACTGGCAGTGAAAT	0.612										HNSCC(64;0.19)																																							0													78	82	81					5																	33549398		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4216C>A	5.37:g.33549398G>T	ENSP00000422554:p.Gln1406Lys		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q1406K	ENST00000504830.1	37	c.4216	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626948	0.66901	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60672	0.17;0.17	5.16	5.16	0.70880	.	0.116434	0.64402	D	0.000014	T	0.60689	0.2288	M	0.81497	2.545	0.80722	D	1	B;B	0.22683	0.073;0.043	B;B	0.26770	0.073;0.033	T	0.58411	-0.7641	10	0.20519	T	0.43	.	15.5546	0.76184	0.0:0.0:1.0:0.0	.	1321;1406	P58397-3;P58397	.;ATS12_HUMAN	K	1406;1321	ENSP00000422554:Q1406K;ENSP00000344847:Q1321K	ENSP00000344847:Q1321K	Q	-	1	0	ADAMTS12	33585155	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.964000	0.76061	2.398000	0.81561	0.650000	0.86243	CAG	ADAMTS12	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000151388		0.612	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	53	0	G	NM_030955		33549398	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	T	T	33549398	G	T	33549398	3	4	54	1	0	0	0	0	1	0	0	0	257	1357	47	3	584	3	ADAMTS12	5	33549398	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6561001	33549398	147365862	114	13408											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33751528	33751528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttaatccacaggttggCtccttggtttctggaacttt	6	16	8	11	0	1	0	0	0	1	0	3	1	3	1	3	4	1	3	3	4	2	6	rs372926192		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:33751528C>A	ENST00000504830.1	-	3	950	c.615G>T	c.(613-615)gaG>gaT	p.E205D	ADAMTS12_ENST00000515401.1_Missense_Mutation_p.E205D|ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E205D	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	205					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGGTTGGCTCCTTGGTTT	0.438										HNSCC(64;0.19)																																							0													139	138	138					5																	33751528		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.615G>T	5.37:g.33751528C>A	ENSP00000422554:p.Glu205Asp		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E205D	ENST00000504830.1	37	c.615	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496810	0.26861	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.59083	0.29;0.29;2.01	5.8	0.345	0.16011	.	0.371485	0.28736	N	0.014314	T	0.37293	0.0998	L	0.44542	1.39	0.23271	N	0.998009	B;B;B	0.15473	0.004;0.013;0.001	B;B;B	0.14578	0.011;0.008;0.001	T	0.06250	-1.0837	10	0.19590	T	0.45	.	0.8745	0.01221	0.1657:0.3967:0.1605:0.277	.	205;205;205	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	D	205	ENSP00000422554:E205D;ENSP00000344847:E205D;ENSP00000421638:E205D	ENSP00000344847:E205D	E	-	3	2	ADAMTS12	33787285	0.049000	0.20398	0.748000	0.31131	0.516000	0.34256	-0.150000	0.10189	0.372000	0.24591	0.563000	0.77884	GAG	ADAMTS12	-	NULL	ENSG00000151388		0.438	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	100	0	C	NM_030955		33751528	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	38.10	39	24	SNP	0.590	A	A	33751528	C	A	33751528	3	1	54	1	0	0	0	0	1	0	0	0	257	796	28	3	4257	3	ADAMTS12	5	33751528	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	202130	33751528	147163732	115	13409											
SLC45A2	51151	genome.wustl.edu	37	chr5	33947439	33947439	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcccgtgaagtaaagAccctttaatccaatgtagga	16	10	7	8	1	0	2	0	1	0	1	2	3	2	3	3	1	0	2	3	1	8	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:33947439A>T	ENST00000296589.4	-	6	1343	c.1197T>A	c.(1195-1197)ggT>ggA	p.G399G	SLC45A2_ENST00000342059.3_Silent_p.G340G|SLC45A2_ENST00000382102.3_Silent_p.G399G	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	399					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TGAAGTAAAGACCCTTTAATC	0.453																																					Ovarian(31;380 859 8490 22203 49048)												0													111	113	113					5																	33947439		2203	4300	6503	SO:0001819	synonymous_variant	0			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1197T>A	5.37:g.33947439A>T			Q6P2P0|Q9BTM3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G399	ENST00000296589.4	37	c.1197	CCDS3901.1	5																																																																																			SLC45A2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000164175		0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	HGNC	protein_coding	OTTHUMT00000207443.2	-	0	48	0	A	NM_016180		33947439	-1	tier1	-	no_errors	ENST00000296589	ensembl	human	known	74_37	silent	41.67	21	15	SNP	0.665	T	T	33947439	A	T	33947439	2	4	54	1	0	0	0	0	0	0	0	1	14686	262	10	5		5	SLC45A2	5	33947439	Silent	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	195911	33947439	146967821	116	13410											
CMYA5	202333	genome.wustl.edu	37	chr5	79024983	79024983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagtgaaaaaggttcGgaaaaggactcataagtcaa	18	7	12	4	1	2	2	2	2	0	0	3	5	2	5	0	4	0	1	0	4	7	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:79024983G>A	ENST00000446378.2	+	2	426	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGGTTCGGAAAAGGACT	0.408																																																	0													133	130	131					5																	79024983		1857	4097	5954	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.395G>A	5.37:g.79024983G>A	ENSP00000394770:p.Arg132Gln		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.R132Q	ENST00000446378.2	37	c.395	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705355	0.48412	.	.	ENSG00000164309	ENST00000446378	T	0.57107	0.42	5.37	3.57	0.40892	.	0.470309	0.18113	N	0.151298	T	0.34687	0.0906	L	0.36672	1.1	0.23107	N	0.998284	P	0.52577	0.954	B	0.35899	0.213	T	0.32981	-0.9886	10	0.87932	D	0	.	5.7546	0.18166	0.222:0.143:0.6351:0.0	.	132	Q8N3K9	CMYA5_HUMAN	Q	132	ENSP00000394770:R132Q	ENSP00000394770:R132Q	R	+	2	0	CMYA5	79060739	0.991000	0.36638	0.690000	0.30148	0.895000	0.52256	2.194000	0.42668	0.620000	0.30215	-0.176000	0.13171	CGG	CMYA5	-	NULL	ENSG00000164309		0.408	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	32	0	G	NM_153610		79024983	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.994	A	A	79024983	G	A	79024983	3	1	54	1	0	0	0	0	1	0	0	0	3597	1116	39	1	401	1	CMYA5	5	79024983	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	45077544	79024983	101890277	117	13411											
RASGRF2	5924	genome.wustl.edu	37	chr5	80502710	80502710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatccacctaaaattagagGatataattcaaatggtaagt	18	11	6	6	0	1	1	1	0	0	1	2	2	2	2	2	2	0	1	2	2	7	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:80502710G>T	ENST00000265080.4	+	20	3020	c.2953G>T	c.(2953-2955)Gat>Tat	p.D985Y	CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	985					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAATTAGAGGATATAATTCA	0.378																																																	0													116	112	113					5																	80502710		2203	4300	6503	SO:0001583	missense	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2953G>T	5.37:g.80502710G>T	ENSP00000265080:p.Asp985Tyr		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D985Y	ENST00000265080.4	37	c.2953	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301751	0.81136	.	.	ENSG00000113319	ENST00000265080	T	0.30714	1.52	5.48	5.48	0.80851	Ras guanine nucleotide exchange factor, domain (1);	0.200898	0.51477	D	0.000092	T	0.49830	0.1580	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.42565	-0.9444	10	0.51188	T	0.08	.	18.9431	0.92611	0.0:0.0:1.0:0.0	.	985	O14827	RGRF2_HUMAN	Y	985	ENSP00000265080:D985Y	ENSP00000265080:D985Y	D	+	1	0	RASGRF2	80538466	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.586000	0.82596	2.563000	0.86464	0.555000	0.69702	GAT	RASGRF2	-	superfamily_Ras_GEF_dom	ENSG00000113319		0.378	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	-	0	32	0	G	NM_006909		80502710	1	tier1	-	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	80502710	G	T	80502710	3	4	54	1	0	0	0	0	1	0	0	0	13118	1174	41	3	3031	3	RASGRF2	5	80502710	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1477727	80502710	100412550	118	13412											
EPB41L4A	64097	genome.wustl.edu	37	chr5	111598196	111598196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatgttactcacatagaCgggatggaggtcaacgccat	13	10	10	8	2	2	1	2	0	0	1	2	3	2	3	1	3	2	1	1	3	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:111598196C>T	ENST00000261486.5	-	7	913	c.637G>A	c.(637-639)Gtc>Atc	p.V213I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	213	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTCACATAGACGGGATGGAGG	0.423																																																	0													119	117	118					5																	111598196		1882	4110	5992	SO:0001583	missense	0			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.637G>A	5.37:g.111598196C>T	ENSP00000261486:p.Val213Ile		A4FUI6	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V213I	ENST00000261486.5	37	c.637	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007499	0.93287	.	.	ENSG00000129595	ENST00000261486	D	0.83914	-1.78	5.54	5.54	0.83059	FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.89832	0.6829	L	0.58510	1.815	0.58432	D	0.999998	D	0.89917	1.0	D	0.76575	0.988	D	0.90111	0.4192	10	0.72032	D	0.01	.	18.6127	0.91291	0.0:1.0:0.0:0.0	.	213	Q9HCS5	E41LA_HUMAN	I	213	ENSP00000261486:V213I	ENSP00000261486:V213I	V	-	1	0	EPB41L4A	111626095	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.966000	0.70395	2.764000	0.94973	0.655000	0.94253	GTC	EPB41L4A	-	pfscan_FERM_domain	ENSG00000129595		0.423	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1	-	0	39	0	C			111598196	-1	tier1	-	no_errors	ENST00000261486	ensembl	human	known	74_37	missense	22.58	24	7	SNP	1.000	T	T	111598196	C	T	111598196	3	4	54	1	0	0	0	0	1	0	0	0	5171	536	19	1	1491	1	EPB41L4A	5	111598196	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	31095486	111598196	69317064	119	13413											
AQPEP	206338	genome.wustl.edu	37	chr5	115298609	115298609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgggaccagctacgcctgCcgccctggctcgtgccgctg	3	7	13	18	4	0	0	0	0	0	0	1	1	0	1	6	2	4	3	6	2	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:115298609C>A	ENST00000357872.4	+	1	419	c.295C>A	c.(295-297)Ccg>Acg	p.P99T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		99						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GCTACGCCTGCCGCCCTGGCT	0.706																																																	0													27	32	30					5																	115298609		2182	4273	6455	SO:0001583	missense	0																														ENST00000357872.4:c.295C>A	5.37:g.115298609C>A	ENSP00000350541:p.Pro99Thr		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P99T	ENST00000357872.4	37	c.295	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194732	0.58017	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05447	3.44	4.18	4.18	0.49190	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.56097	D	0.000034	T	0.39279	0.1072	H	0.98577	4.27	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59096	-0.7518	10	0.87932	D	0	.	11.891	0.52628	0.0:1.0:0.0:0.0	.	99	Q6Q4G3	AMPQ_HUMAN	T	99	ENSP00000350541:P99T	ENSP00000350541:P99T	P	+	1	0	AC010282.1	115326508	1.000000	0.71417	0.998000	0.56505	0.479000	0.33129	4.334000	0.59291	2.169000	0.68431	0.650000	0.86243	CCG	AQPEP	-	pfam_Peptidase_M1_N	ENSG00000172901		0.706	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1	-	0	19	0	C			115298609	1	tier1	-	no_errors	ENST00000357872	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.998	A	A	115298609	C	A	115298609	3	1	54	1	0	0	0	0	1	0	0	0	834	739	26	3	297	3	AQPEP	5	115298609	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3700413	115298609	65616651	120	13414											
SLC27A6	28965	genome.wustl.edu	37	chr5	128365297	128365297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagcaggaatggcttCtattattttaaaaccaaata	17	11	8	5	0	1	1	0	0	1	1	1	3	1	3	1	3	2	2	1	3	8	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:128365297C>A	ENST00000262462.4	+	9	2590	c.1580C>A	c.(1579-1581)tCt>tAt	p.S527Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.S527Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.S527Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	527					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GGAATGGCTTCTATTATTTTA	0.279																																																	0													50	52	51					5																	128365297		2200	4289	6489	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1580C>A	5.37:g.128365297C>A	ENSP00000262462:p.Ser527Tyr		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.S527Y	ENST00000262462.4	37	c.1580	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389310	0.82902	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.52754	0.65;0.65;0.65	4.67	4.67	0.58626	.	0.157041	0.64402	D	0.000020	T	0.71134	0.3304	M	0.84082	2.675	0.52501	D	0.999952	D	0.64830	0.994	D	0.68765	0.96	T	0.73436	-0.3983	9	.	.	.	-4.5134	18.8825	0.92362	0.0:1.0:0.0:0.0	.	527	Q9Y2P4	S27A6_HUMAN	Y	527	ENSP00000262462:S527Y;ENSP00000378684:S527Y;ENSP00000421024:S527Y	.	S	+	2	0	SLC27A6	128393196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.866000	0.98385	0.650000	0.86243	TCT	SLC27A6	-	NULL	ENSG00000113396		0.279	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1	-	0	46	0	C	NM_014031		128365297	1	tier1	-	no_errors	ENST00000262462	ensembl	human	known	74_37	missense	22.73	34	10	SNP	1.000	A	A	128365297	C	A	128365297	3	1	54	1	0	0	0	0	1	0	0	0	14575	913	32	3	1614	3	SLC27A6	5	128365297	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	13066688	128365297	52549963	121	13415											
ADAMTS19	171019	genome.wustl.edu	37	chr5	128994320	128994320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttacagaaagttggctGtgatggtttattagggtctc	8	16	12	5	0	1	2	0	1	1	1	2	2	1	2	0	3	1	4	0	3	4	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:128994320G>A	ENST00000274487.4	+	15	2442	c.2297G>A	c.(2296-2298)tGt>tAt	p.C766Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	766	Cys-rich.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAAGTTGGCTGTGATGGTTTA	0.368																																																	0													174	170	171					5																	128994320		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2297G>A	5.37:g.128994320G>A	ENSP00000274487:p.Cys766Tyr			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C766Y	ENST00000274487.4	37	c.2297	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763491	0.69763	.	.	ENSG00000145808	ENST00000274487	T	0.72725	-0.68	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.89001	0.6591	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92798	0.6254	9	.	.	.	.	17.1595	0.86800	0.0:0.0:1.0:0.0	.	766	Q8TE59	ATS19_HUMAN	Y	766	ENSP00000274487:C766Y	.	C	+	2	0	ADAMTS19	129022219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.453000	0.90349	2.456000	0.83038	0.650000	0.86243	TGT	ADAMTS19	-	prints_Peptidase_M12B_ADAM-TS	ENSG00000145808		0.368	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	103	0	G	NM_133638		128994320	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	A	A	128994320	G	A	128994320	3	1	54	1	0	0	0	0	1	0	0	0	264	1377	48	3	2355	3	ADAMTS19	5	128994320	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	629023	128994320	51920940	122	13416											
KIF20A	10112	genome.wustl.edu	37	chr5	137522065	137522065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcttgttgccacagcactgGggcaggaaaacttcgtcaag	11	8	12	10	1	1	0	1	0	0	0	2	1	1	1	1	3	4	4	1	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:137522065G>T	ENST00000394894.3	+	18	2526	c.2300G>T	c.(2299-2301)gGg>gTg	p.G767V	KIF20A_ENST00000508792.1_Missense_Mutation_p.G749V	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	767	Globular. {ECO:0000255}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CACAGCACTGGGGCAGGAAAA	0.478																																																	0													92	87	89					5																	137522065		2203	4300	6503	SO:0001583	missense	0			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2300G>T	5.37:g.137522065G>T	ENSP00000378356:p.Gly767Val		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G767V	ENST00000394894.3	37	c.2300	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484018	0.84854	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.71341	-0.47;-0.56	5.98	5.98	0.97165	.	0.000000	0.44285	D	0.000467	T	0.81702	0.4878	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.973;0.999	T	0.74216	-0.3737	10	0.15066	T	0.55	-16.1669	20.4352	0.99089	0.0:0.0:1.0:0.0	.	749;767	B4DL79;O95235	.;KI20A_HUMAN	V	767;749	ENSP00000378356:G767V;ENSP00000420880:G749V	ENSP00000378356:G767V	G	+	2	0	KIF20A	137549964	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.783000	0.75078	2.836000	0.97738	0.655000	0.94253	GGG	KIF20A	-	NULL	ENSG00000112984		0.478	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	-	0	41	0	G	NM_005733		137522065	1	tier1	-	no_errors	ENST00000394894	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	T	T	137522065	G	T	137522065	3	4	54	1	0	0	0	0	1	0	0	0	8313	1232	43	3	2366	3	KIF20A	5	137522065	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	8527745	137522065	43393195	123	13417											
PCDHB2	56133	genome.wustl.edu	37	chr5	140474968	140474968	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaccacagctggtgctGaacagagccctggatcgcga	11	8	11	11	2	0	2	0	1	0	1	1	4	0	3	2	2	5	2	2	2	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:140474968G>T	ENST00000194155.4	+	1	742	c.594G>T	c.(592-594)ctG>ctT	p.L198L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGGTGCTGAACAGAGCCC	0.517																																																	0													38	38	38					5																	140474968		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.594G>T	5.37:g.140474968G>T			Q4KMU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L198	ENST00000194155.4	37	c.594	CCDS4244.1	5																																																																																			PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000112852		0.517	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	-	0	54	0	G	NM_018936		140474968	1	tier1	-	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	13.33	26	4	SNP	1.000	T	T	140474968	G	T	140474968	2	4	54	1	0	0	0	0	0	0	0	1	11581	1277	45	3		3	PCDHB2	5	140474968	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2952903	140474968	40440292	124	13418											
FAM71B	153745	genome.wustl.edu	37	chr5	156590082	156590082	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctttgcaaggtggagatGaggggtcccactgctggtcc	6	10	15	10	1	0	2	0	1	0	1	3	3	2	2	2	5	2	3	2	5	1	1	rs548135799		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:156590082G>T	ENST00000302938.4	-	2	1289	c.1194C>A	c.(1192-1194)ctC>ctA	p.L398L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	398						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTGGAGATGAGGGGTCCCA	0.517																																																	0													68	72	70					5																	156590082		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1194C>A	5.37:g.156590082G>T			Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	pfam_DUF3699	p.L398	ENST00000302938.4	37	c.1194	CCDS4335.1	5																																																																																			FAM71B	-	NULL	ENSG00000170613		0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	-	0	50	0	G	NM_130899		156590082	-1	tier1	-	no_errors	ENST00000302938	ensembl	human	known	74_37	silent	32.43	25	12	SNP	0.076	T	T	156590082	G	T	156590082	2	4	54	1	0	0	0	0	0	0	0	1	5630	1277	45	3		3	FAM71B	5	156590082	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	16115114	156590082	24325178	125	13419											
ODZ2	57451	genome.wustl.edu	37	chr5	167489242	167489242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttggtgtttacataaGaagaggacttccaccatctc	10	14	7	10	0	2	2	0	0	2	2	5	3	3	3	2	2	1	1	2	2	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:167489242G>T	ENST00000518659.1	+	7	1526	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I	TENM2_ENST00000519204.1_Missense_Mutation_p.R375I|TENM2_ENST00000403607.2_Missense_Mutation_p.R329I|TENM2_ENST00000520394.1_Missense_Mutation_p.R264I|TENM2_ENST00000545108.1_Missense_Mutation_p.R496I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	496					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GTTTACATAAGAAGAGGACTT	0.413																																																	0													112	108	109					5																	167489242		1907	4124	6031	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1487G>T	5.37:g.167489242G>T	ENSP00000429430:p.Arg496Ile		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R496I	ENST00000518659.1	37	c.1487		5	.	.	.	.	.	.	.	.	.	.	G	34	5.331292	0.95733	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.999;0.988;1.0	T	0.70691	-0.4802	10	0.87932	D	0	.	19.3422	0.94347	0.0:0.0:1.0:0.0	.	496;264;375	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	I	496;496;375;264;329	ENSP00000429430:R496I;ENSP00000438635:R496I;ENSP00000428964:R375I;ENSP00000427874:R264I;ENSP00000384905:R329I	ENSP00000384905:R329I	R	+	2	0	ODZ2	167421820	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.804000	0.99143	2.567000	0.86603	0.655000	0.94253	AGA	TENM2	-	NULL	ENSG00000145934		0.413	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0	64	0	G	NM_001122679		167489242	1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	T	T	167489242	G	T	167489242	3	4	54	1	0	0	0	0	1	0	0	0	10874	942	33	3	1513	3	ODZ2	5	167489242	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	10899160	167489242	13426018	126	13420											
ZNF354C	30832	genome.wustl.edu	37	chr5	178506424	178506424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagaaactctataaatgcGgcgaatgtgagaaggccttc	14	8	12	7	2	1	2	0	1	1	2	2	6	1	2	1	2	2	0	1	2	6	3	rs149169026		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:178506424G>A	ENST00000315475.6	+	5	1297	c.991G>A	c.(991-993)Ggc>Agc	p.G331S		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CTATAAATGCGGCGAATGTGA	0.438																																																	0								G	SER/GLY	0,4406		0,0,2203	171	181	178		991	0.2	0.1	5	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF354C	NM_014594.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	331/555	178506424	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.991G>A	5.37:g.178506424G>A	ENSP00000324064:p.Gly331Ser		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G331S	ENST00000315475.6	37	c.991	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	7.956	0.745988	0.15710	0.0	1.16E-4	ENSG00000177932	ENST00000315475	T	0.07216	3.21	4.04	0.254	0.15557	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.05230	-0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47623	-0.9103	9	0.13853	T	0.58	-1.1818	3.379	0.07247	0.4094:0.0:0.4105:0.1801	.	331	Q86Y25	Z354C_HUMAN	S	331	ENSP00000324064:G331S	ENSP00000324064:G331S	G	+	1	0	ZNF354C	178439030	0.000000	0.05858	0.060000	0.19600	0.898000	0.52572	-0.659000	0.05323	0.126000	0.18424	-0.948000	0.02665	GGC	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177932		0.438	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	-	0	28	0	G			178506424	1	tier1	rs149169026	no_errors	ENST00000315475	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.115	A	A	178506424	G	A	178506424	3	1	54	1	0	0	0	0	1	0	0	0	17914	1116	39	1	1005	1	ZNF354C	5	178506424	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	11017182	178506424	2408836	127	13421											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178771118	178771118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggcgtcagtgcgcaCgggcaccgccaggatgcgct	5	5	16	15	5	1	0	1	0	0	0	1	1	1	1	3	3	2	3	3	3	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr5:178771118C>T	ENST00000251582.7	-	2	285	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.V62M	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	62					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCAGTGCGCACGGGCACCGCC	0.736																																																	0													10	11	11					5																	178771118		2117	4168	6285	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.184G>A	5.37:g.178771118C>T	ENSP00000251582:p.Val62Met			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.V62M	ENST00000251582.7	37	c.184	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878066	0.72294	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.06768	3.26;3.26	5.19	4.19	0.49359	Peptidase M12B, propeptide (1);	0.376195	0.19440	N	0.114205	T	0.17746	0.0426	M	0.78916	2.43	0.34897	D	0.74616	D;D	0.64830	0.992;0.994	P;P	0.55667	0.674;0.781	T	0.23655	-1.0182	10	0.72032	D	0.01	.	2.6314	0.04946	0.2947:0.5248:0.0:0.1805	.	62;62	O95450-2;O95450	.;ATS2_HUMAN	M	62	ENSP00000251582:V62M;ENSP00000274609:V62M	ENSP00000251582:V62M	V	-	1	0	ADAMTS2	178703724	0.960000	0.32886	0.998000	0.56505	0.906000	0.53458	1.623000	0.37008	2.425000	0.82216	0.462000	0.41574	GTG	ADAMTS2	-	pfam_Peptidase_M12B_N	ENSG00000087116		0.736	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	11	0	C	NM_014244		178771118	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	40.00	6	4	SNP	0.905	T	T	178771118	C	T	178771118	3	4	54	1	0	0	0	0	1	0	0	0	265	536	19	1	3610	1	ADAMTS2	5	178771118	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	264694	178771118	2144142	128	13422											
MRS2	57380	genome.wustl.edu	37	chr6	24412553	24412553	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actcccttcacagttgtctgGagagggtcaactcgttacat	9	12	9	11	1	3	1	2	0	1	1	5	2	4	1	1	2	2	2	1	2	2	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:24412553G>C	ENST00000378386.3	+	5	611	c.518G>C	c.(517-519)gGa>gCa	p.G173A	MRS2_ENST00000378353.1_Missense_Mutation_p.G173A|MRS2_ENST00000443868.2_Missense_Mutation_p.G176A|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.G123A|MRS2_ENST00000274747.7_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	173						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CAGTTGTCTGGAGAGGGTCAA	0.398																																																	0													132	125	128					6																	24412553		2203	4300	6503	SO:0001583	missense	0			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.518G>C	6.37:g.24412553G>C	ENSP00000367637:p.Gly173Ala		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	NULL	p.G176A	ENST00000378386.3	37	c.527	CCDS4552.1	6	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613474	0.46631	.	.	ENSG00000124532	ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	T;T;T;T	0.46063	1.55;1.45;0.88;1.49	5.31	1.19	0.21007	.	0.441905	0.23805	N	0.044382	T	0.25717	0.0626	L	0.42245	1.32	0.80722	D	1	B;D;B;P	0.57257	0.155;0.979;0.158;0.499	B;P;B;B	0.54100	0.123;0.742;0.047;0.234	T	0.04242	-1.0966	10	0.26408	T	0.33	-13.388	6.3625	0.21437	0.2141:0.0:0.6578:0.1281	.	123;176;173;173	F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.;.;MRS2_HUMAN;.	A	123;173;173;176	ENSP00000441839:G123A;ENSP00000367637:G173A;ENSP00000367604:G173A;ENSP00000399585:G176A	ENSP00000367604:G173A	G	+	2	0	MRS2	24520532	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	2.756000	0.47549	0.624000	0.30286	0.462000	0.41574	GGA	MRS2	-	NULL	ENSG00000124532		0.398	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MRS2	HGNC	protein_coding	OTTHUMT00000040002.1	-	0	63	0	G			24412553	1	tier1	-	no_errors	ENST00000443868	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	C	C	24412553	G	C	24412553	3	2	54	1	0	0	0	0	1	0	0	0	9889	1174	41	5	536	5	MRS2	6	24412553	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		24412553	146702514	129	13423											
BAT2	7916	genome.wustl.edu	37	chr6	31600164	31600164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcatggaagatggggaGcgaccccgaaggaggcgaca	11	3	19	8	3	0	1	0	0	0	1	0	7	0	4	2	6	1	1	2	6	2	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:31600164G>T	ENST00000376033.2	+	16	3948	c.3714G>T	c.(3712-3714)gaG>gaT	p.E1238D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E1238D	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1238	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGATGGGGAGCGACCCCGAA	0.612																																																	0													64	65	64					6																	31600164		1511	2709	4220	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.3714G>T	6.37:g.31600164G>T	ENSP00000365201:p.Glu1238Asp		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E1238D	ENST00000376033.2	37	c.3714	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399016	0.25291	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02552	4.25;4.25	5.26	0.3	0.15776	.	0.000000	0.56097	D	0.000023	T	0.01061	0.0035	L	0.43152	1.355	0.34353	D	0.690118	P	0.43788	0.817	B	0.36244	0.22	T	0.57997	-0.7714	10	0.87932	D	0	-18.5967	9.1361	0.36875	0.3983:0.0:0.6017:0.0	.	1238	P48634	PRC2A_HUMAN	D	1232;1221;1238;1238;463	ENSP00000365175:E1238D;ENSP00000365201:E1238D	ENSP00000365175:E1238D	E	+	3	2	PRRC2A	31708143	0.504000	0.26123	0.993000	0.49108	0.965000	0.64279	0.071000	0.14594	-0.138000	0.11434	0.655000	0.94253	GAG	PRRC2A	-	NULL	ENSG00000204469		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	-	0	33	0	G	NM_080686		31600164	1	tier1	-	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.997	T	T	31600164	G	T	31600164	3	4	54	1	0	0	0	0	1	0	0	0	1320	962	34	3	3772	3	BAT2	6	31600164	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7187611	31600164	139514903	130	13424											
TNXB	7148	genome.wustl.edu	37	chr6	32036692	32036692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcggattccaggccagAgagggtgatgtcattccggt	7	10	16	8	2	1	2	1	1	0	1	4	4	3	3	3	5	0	0	3	5	0	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:32036692A>T	ENST00000375244.3	-	16	6010	c.5809T>A	c.(5809-5811)Tct>Act	p.S1937T	TNXB_ENST00000375247.2_Missense_Mutation_p.S1937T			P22105	TENX_HUMAN	tenascin XB	2019	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCAGGCCAGAGAGGGTGATG	0.527																																																	0													109	125	119					6																	32036692		1362	2604	3966	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5809T>A	6.37:g.32036692A>T	ENSP00000364393:p.Ser1937Thr		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.S1937T	ENST00000375244.3	37	c.5809		6	.	.	.	.	.	.	.	.	.	.	A	8.284	0.816260	0.16607	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04454	3.62;3.62	5.16	-1.83	0.07833	.	0.703789	0.12230	N	0.487552	T	0.00815	0.0027	L	0.36672	1.1	0.09310	N	1	B	0.25441	0.126	B	0.25140	0.058	T	0.47328	-0.9126	10	0.06625	T	0.88	.	3.7579	0.08592	0.2917:0.0:0.237:0.4712	.	1937	P22105-3	.	T	1937	ENSP00000364393:S1937T;ENSP00000364396:S1937T	ENSP00000364393:S1937T	S	-	1	0	TNXB	32144670	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.570000	0.05895	-0.211000	0.10124	0.533000	0.62120	TCT	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.527	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	54	0	A	NM_019105		32036692	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.000	T	T	32036692	A	T	32036692	3	4	54	1	0	0	0	0	1	0	0	0	16393	304	11	5	9020	5	TNXB	6	32036692	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	436528	32036692	139078375	131	13425											
PKHD1	5314	genome.wustl.edu	37	chr6	51777375	51777375	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacttctggtagtgaacCtaaagcagcccgaggaaaag	15	8	10	8	1	1	1	0	1	1	0	1	3	1	2	2	2	4	2	2	2	8	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:51777375C>A	ENST00000371117.3	-	38	6397		c.e38-1		PKHD1_ENST00000340994.4_Splice_Site	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)						cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTAGTGAACCTAAAGCAGCC	0.398																																																	0													76	70	72					6																	51777375		2203	4300	6503	SO:0001630	splice_region_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6122-1G>T	6.37:g.51777375C>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Splice_Site	SNP	-	e37-1	ENST00000371117.3	37	c.6122-1	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764193	0.69878	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7685	0.78146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKHD1	51885334	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	3.854000	0.55949	2.800000	0.96347	0.591000	0.81541	.	PKHD1	-	-	ENSG00000170927		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1		0	49	0	C	NM_138694	Intron	51777375	-1			no_errors	ENST00000371117	ensembl	human	known	74_37	splice_site	31.03	20	9	SNP	1.000	A	A	51777375	C	A	51777375	5	1	54	1	0	0	0	0	0	0	1	0	12010	695	24	3	6262	3	PKHD1	6	51777375	Splice_Site	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	19740683	51777375	119337692	132	13426											
BAI3	577	genome.wustl.edu	37	chr6	69653794	69653794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgaggccaaagaacaaGaacaaggtcatgcacacctc	15	5	10	11	1	1	2	1	0	0	2	3	3	1	2	2	3	3	1	2	3	5	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:69653794G>T	ENST00000370598.1	+	6	1924	c.1103G>T	c.(1102-1104)aGa>aTa	p.R368I		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	368	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAGAACAAGAACAAGGTCA	0.453																																																	0													242	191	208					6																	69653794		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1103G>T	6.37:g.69653794G>T	ENSP00000359630:p.Arg368Ile		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R368I	ENST00000370598.1	37	c.1103	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.315458	0.95655	.	.	ENSG00000135298	ENST00000370598	T	0.80909	-1.43	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	H	0.97707	4.06	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.95093	0.8223	10	0.87932	D	0	.	18.8518	0.92235	0.0:0.0:1.0:0.0	.	368	O60242	BAI3_HUMAN	I	368	ENSP00000359630:R368I	ENSP00000359630:R368I	R	+	2	0	BAI3	69710515	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.657000	0.98554	2.678000	0.91216	0.655000	0.94253	AGA	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000135298		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	151	0	G			69653794	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	29.36	77	32	SNP	1.000	T	T	69653794	G	T	69653794	3	4	54	1	0	0	0	0	1	0	0	0	1301	942	33	3	1117	3	BAI3	6	69653794	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	17876419	69653794	101461273	133	13427											
RIMS1	22999	genome.wustl.edu	37	chr6	72957772	72957772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccatttctgttatttCtccaacaagtcctggagctc	7	15	6	13	0	2	0	0	0	2	0	6	1	4	1	4	1	2	2	4	1	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:72957772C>A	ENST00000521978.1	+	12	2183	c.2183C>A	c.(2182-2184)tCt>tAt	p.S728Y	RIMS1_ENST00000517827.1_Missense_Mutation_p.S187Y|RIMS1_ENST00000401910.3_Missense_Mutation_p.S202Y|RIMS1_ENST00000523963.1_Missense_Mutation_p.S202Y|RIMS1_ENST00000522291.1_Missense_Mutation_p.S728Y|RIMS1_ENST00000520567.1_Missense_Mutation_p.S728Y|RIMS1_ENST00000425662.2_Missense_Mutation_p.S121Y|RIMS1_ENST00000491071.2_Missense_Mutation_p.S728Y|RIMS1_ENST00000264839.7_Missense_Mutation_p.S728Y|RIMS1_ENST00000348717.5_Missense_Mutation_p.S728Y|RIMS1_ENST00000517960.1_Missense_Mutation_p.S728Y|RIMS1_ENST00000518273.1_Missense_Mutation_p.S728Y	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	728					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCTGTTATTTCTCCAACAAGT	0.363																																																	0													128	121	123					6																	72957772		1820	4079	5899	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2183C>A	6.37:g.72957772C>A	ENSP00000428417:p.Ser728Tyr		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S728Y	ENST00000521978.1	37	c.2183	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.897350|4.897350	0.91962|0.91962	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.20069	.|2.1;2.24;2.16;2.24;2.23;2.22;2.24;2.14;2.25;2.23;2.27;2.17;2.25	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.30665|0.30665	0.0772|0.0772	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D;D;D	.|0.76494	.|0.879;0.995;0.999;0.999;0.999;0.999;0.997	.|P;D;D;D;D;D;D	.|0.80764	.|0.54;0.986;0.994;0.959;0.984;0.994;0.926	T|T	0.05920|0.05920	-1.0856|-1.0856	5|10	.|0.87932	.|D	.|0	-13.2445|-13.2445	19.8769|19.8769	0.96880|0.96880	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|187;202;728;187;202;728;728	.|B7Z3S3;E9PHF5;E9PHR1;B7Z9Z3;E9PF48;C9JNW6;Q86UR5	.|.;.;.;.;.;.;RIMS1_HUMAN	L|Y	301|728;728;728;728;728;728;728;728;728;728;728;728;202;202;121;121;187	.|ENSP00000430101:S728Y;ENSP00000275037:S728Y;ENSP00000264839:S728Y;ENSP00000429959:S728Y;ENSP00000430408:S728Y;ENSP00000430502:S728Y;ENSP00000430932:S728Y;ENSP00000428417:S728Y;ENSP00000385649:S202Y;ENSP00000428328:S202Y;ENSP00000411235:S121Y;ENSP00000389503:S121Y;ENSP00000428367:S187Y	.|ENSP00000264839:S728Y	F|S	+|+	3|2	2|0	RIMS1|RIMS1	73014493|73014493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.696000|7.696000	0.84270|0.84270	2.767000|2.767000	0.95098|0.95098	0.557000|0.557000	0.71058|0.71058	TTC|TCT	RIMS1	-	NULL	ENSG00000079841		0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	51	0	C			72957772	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	A	A	72957772	C	A	72957772	3	1	54	1	0	0	0	0	1	0	0	0	13412	913	32	3	2392	3	RIMS1	6	72957772	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3303978	72957772	98157295	134	13428											
MDN1	23195	genome.wustl.edu	37	chr6	90362717	90362717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagttttactacctggaaGatcgtgtccatgaggaattg	10	13	12	6	1	0	3	0	2	0	1	2	5	1	5	2	2	2	1	2	2	4	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:90362717G>A	ENST00000369393.3	-	94	15934	c.15819C>T	c.(15817-15819)atC>atT	p.I5273I	MDN1_ENST00000428876.1_Silent_p.I5273I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5273					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTACCTGGAAGATCGTGTCCA	0.333																																																	0													232	211	218					6																	90362717		2203	4300	6503	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15819C>T	6.37:g.90362717G>A			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.I5273	ENST00000369393.3	37	c.15819	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.333	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	160	0	G			90362717	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	33.01	69	34	SNP	0.320	A	A	90362717	G	A	90362717	2	1	54	1	0	0	0	0	0	0	0	1	9453	932	33	3		3	MDN1	6	90362717	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	17404945	90362717	80752350	135	13429											
C6orf167	253714	genome.wustl.edu	37	chr6	97711246	97711246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacttctgtggtctagaaGatgaataagtagaacccata	14	13	8	6	0	2	4	0	1	2	3	2	4	2	4	1	1	2	1	1	1	8	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:97711246G>T	ENST00000275053.4	-	9	1172	c.907C>A	c.(907-909)Ctt>Att	p.L303I	MMS22L_ENST00000369251.2_Missense_Mutation_p.L303I|MMS22L_ENST00000506256.1_5'UTR	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	303					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGGTCTAGAAGATGAATAAGT	0.318																																																	0													137	141	140					6																	97711246		2203	4295	6498	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.907C>A	6.37:g.97711246G>T	ENSP00000275053:p.Leu303Ile		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L303I	ENST00000275053.4	37	c.907	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325104	0.41197	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.53423	0.62;0.62	5.66	4.78	0.61160	.	0.074255	0.56097	N	0.000035	T	0.32133	0.0819	M	0.72894	2.215	0.52501	D	0.99995	B;B	0.22414	0.069;0.031	B;B	0.27887	0.084;0.035	T	0.22730	-1.0208	10	0.36615	T	0.2	-1.6791	10.9028	0.47062	0.0687:0.0:0.8007:0.1306	.	303;303	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	I	303	ENSP00000275053:L303I;ENSP00000358254:L303I	ENSP00000275053:L303I	L	-	1	0	MMS22L	97817967	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	4.258000	0.58822	1.350000	0.45770	0.491000	0.48974	CTT	MMS22L	-	NULL	ENSG00000146263		0.318	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	27	0	G	NM_198468		97711246	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.997	T	T	97711246	G	T	97711246	3	4	54	1	0	0	0	0	1	0	0	0	2349	942	33	3	2892	3	C6orf167	6	97711246	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7348529	97711246	73403821	136	13430											
MICAL1	64780	genome.wustl.edu	37	chr6	109765475	109765475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagggcatctctctggttGaccaaatccaccagcttcct	9	11	8	13	0	2	2	0	2	2	0	5	2	4	2	4	2	1	3	4	2	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:109765475G>A	ENST00000358807.3	-	25	3434	c.3123C>T	c.(3121-3123)gtC>gtT	p.V1041V	MICAL1_ENST00000368952.4_Silent_p.V1060V|MICAL1_ENST00000358577.3_Silent_p.V955V	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1041					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTCTCTGGTTGACCAAATCCA	0.597																																																	0													38	40	39					6																	109765475		2203	4300	6503	SO:0001819	synonymous_variant	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.3123C>T	6.37:g.109765475G>A			B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.V1060	ENST00000358807.3	37	c.3180	CCDS5076.1	6																																																																																			MICAL1	-	pfam_DUF3585	ENSG00000135596		0.597	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	-	0	55	0	G	NM_022765		109765475	-1	tier1	-	no_errors	ENST00000368952	ensembl	human	known	74_37	silent	23.40	36	11	SNP	1.000	A	A	109765475	G	A	109765475	2	1	54	1	0	0	0	0	0	0	0	1	9607	1277	45	3		3	MICAL1	6	109765475	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	12054229	109765475	61349592	137	13431											
AKD1	221264	genome.wustl.edu	37	chr6	109814603	109814603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggtctatatttctgagaGagagaaaggtctttaactta	12	15	10	4	0	3	3	0	1	3	2	3	5	3	3	0	2	1	0	0	2	5	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:109814603G>C	ENST00000424296.2	-	41	5781	c.5705C>G	c.(5704-5706)tCt>tGt	p.S1902C	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1902					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ATTTCTGAGAGAGAGAAAGGT	0.388																																																	0													180	182	181					6																	109814603		2203	4300	6503	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5705C>G	6.37:g.109814603G>C	ENSP00000410186:p.Ser1902Cys		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1902C	ENST00000424296.2	37	c.5705	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.591322|4.591322	0.86851|0.86851	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000470564|ENST00000424296	.|T	.|0.66815	.|-0.23	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.162598	.|0.56097	.|D	.|0.000034	T|T	0.73401|0.73401	0.3582|0.3582	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.963;0.998	.|P;P	.|0.58013	.|0.694;0.831	T|T	0.72204|0.72204	-0.4361|-0.4361	5|9	.|.	.|.	.|.	.|.	19.5676|19.5676	0.95401|0.95401	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|287;1902	.|B7ZL24;Q5TCS8	.|.;AKD1_HUMAN	V|C	740|1902	.|ENSP00000410186:S1902C	.|.	L|S	-|-	1|2	0|0	AKD1|AKD1	109921296|109921296	0.992000|0.992000	0.36948|0.36948	0.857000|0.857000	0.33713|0.33713	0.893000|0.893000	0.52053|0.52053	5.506000|5.506000	0.66993|0.66993	2.623000|2.623000	0.88846|0.88846	0.591000|0.591000	0.81541|0.81541	CTC|TCT	AK9	-	NULL	ENSG00000155085		0.388	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0	79	0	G	NM_001145128		109814603	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.969	C	C	109814603	G	C	109814603	3	2	54	1	0	0	0	0	1	0	0	0	460	942	33	5	34	5	AKD1	6	109814603	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	49128	109814603	61300464	138	13432											
RFX6	222546	genome.wustl.edu	37	chr6	117250059	117250059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacttaacattttagatGacagtggtagaaaacagacc	16	10	7	8	0	0	4	0	1	0	3	1	4	1	4	2	1	2	1	2	1	5	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:117250059G>T	ENST00000332958.2	+	18	2552	c.2536G>T	c.(2536-2538)Gac>Tac	p.D846Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	846					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTTTAGATGACAGTGGTAG	0.448																																																	0													155	133	141					6																	117250059		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2536G>T	6.37:g.117250059G>T	ENSP00000332208:p.Asp846Tyr		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.D846Y	ENST00000332958.2	37	c.2536	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803608	0.90623	.	.	ENSG00000185002	ENST00000332958	T	0.60299	0.2	5.63	5.63	0.86233	.	0.319683	0.33813	N	0.004535	T	0.62780	0.2456	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.65590	-0.6131	10	0.87932	D	0	-24.4001	20.0442	0.97604	0.0:0.0:1.0:0.0	.	846	Q8HWS3	RFX6_HUMAN	Y	846	ENSP00000332208:D846Y	ENSP00000332208:D846Y	D	+	1	0	RFX6	117356752	1.000000	0.71417	0.990000	0.47175	0.961000	0.63080	9.358000	0.97109	2.814000	0.96858	0.655000	0.94253	GAC	RFX6	-	NULL	ENSG00000185002		0.448	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0	60	0	G	NM_173560		117250059	1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	27.66	34	13	SNP	1.000	T	T	117250059	G	T	117250059	3	4	54	1	0	0	0	0	1	0	0	0	13312	1290	45	3	2606	3	RFX6	6	117250059	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7435456	117250059	53865008	139	13433											
TNFAIP3	7128	genome.wustl.edu	37	chr6	138196069	138196069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaggaaggcgctgttcaGcacgctcaaggaaacagaca	14	5	12	10	2	2	2	2	1	0	1	2	4	2	4	0	3	2	4	0	3	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:138196069G>T	ENST00000237289.4	+	3	449	c.383G>T	c.(382-384)aGc>aTc	p.S128I		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	128	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.W113_F140del(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GCGCTGTTCAGCACGCTCAAG	0.493			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	26	Whole gene deletion(25)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(26)											122	111	115					6																	138196069		2203	4300	6503	SO:0001583	missense	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.383G>T	6.37:g.138196069G>T	ENSP00000237289:p.Ser128Ile		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S128I	ENST00000237289.4	37	c.383	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299720	0.81136	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.32988	1.43;1.43	5.97	5.97	0.96955	Ovarian tumour, otubain (2);	0.177879	0.64402	D	0.000008	T	0.23171	0.0560	L	0.36672	1.1	0.47245	D	0.99936	P	0.45672	0.864	P	0.49192	0.602	T	0.00981	-1.1492	10	0.48119	T	0.1	-5.6135	12.8542	0.57876	0.0746:0.0:0.9254:0.0	.	128	P21580	TNAP3_HUMAN	I	128	ENSP00000401562:S128I;ENSP00000237289:S128I	ENSP00000237289:S128I	S	+	2	0	TNFAIP3	138237762	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.772000	0.55325	2.819000	0.97034	0.655000	0.94253	AGC	TNFAIP3	-	pfam_OTU,pfscan_OTU	ENSG00000118503		0.493	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	-	0	50	0	G			138196069	1	tier1	-	no_errors	ENST00000237289	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	138196069	G	T	138196069	3	4	54	1	0	0	0	0	1	0	0	0	16321	971	34	3	389	3	TNFAIP3	6	138196069	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	20946010	138196069	32918998	140	13434											
SYNE1	23345	genome.wustl.edu	37	chr6	152776714	152776714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccaatctccagttttCtttaccatactcttgatgtg	7	19	4	11	0	4	1	0	1	4	0	6	1	5	1	3	0	2	1	3	0	3	8			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr6:152776714C>A	ENST00000367255.5	-	24	3340	c.2739G>T	c.(2737-2739)aaG>aaT	p.K913N	SYNE1_ENST00000423061.1_Missense_Mutation_p.K920N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K920N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K913N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K480N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K913N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K979N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K903N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K913N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	913					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCAGTTTTCTTTACCATAC	0.388										HNSCC(10;0.0054)																																							0													98	98	98					6																	152776714		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2739G>T	6.37:g.152776714C>A	ENSP00000356224:p.Lys913Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K913N	ENST00000367255.5	37	c.2739	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957841	0.73902	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.26	5.26	0.73747	.	0.099315	0.43919	D	0.000505	T	0.45935	0.1367	M	0.61703	1.905	0.80722	D	1	D;P;P;D;D;P;D	0.69078	0.995;0.565;0.956;0.985;0.997;0.565;0.985	P;B;P;P;D;B;P	0.64687	0.711;0.201;0.72;0.888;0.928;0.201;0.888	T	0.19418	-1.0306	10	0.21014	T	0.42	.	18.8594	0.92266	0.0:1.0:0.0:0.0	.	896;913;480;903;913;913;920	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	913;920;913;920;979;913;903;913;480	ENSP00000356224:K913N;ENSP00000396024:K920N;ENSP00000265368:K913N;ENSP00000390975:K920N;ENSP00000341887:K979N;ENSP00000356222:K913N;ENSP00000356217:K903N;ENSP00000414510:K913N;ENSP00000438508:K480N	ENSP00000265368:K913N	K	-	3	2	SYNE1	152818407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.539000	0.53604	2.441000	0.82636	0.655000	0.94253	AAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	16	0	C	NM_182961		152776714	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A	A	152776714	C	A	152776714	3	1	54	1	0	0	0	0	1	0	0	0	15492	912	32	3	24219	3	SYNE1	6	152776714	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	14580645	152776714	18338353	141	13435											
INTS1	26173	genome.wustl.edu	37	chr7	1517247	1517247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgaccacctcggggTccagcatttccagccagtcc	7	8	10	16	1	0	1	0	1	0	0	4	1	3	1	6	2	4	3	6	2	0	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:1517247T>C	ENST00000404767.3	-	35	4962	c.4877A>G	c.(4876-4878)gAc>gGc	p.D1626G	INTS1_ENST00000389470.4_Missense_Mutation_p.D1825G	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1626					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACCTCGGGGTCCAGCATTTC	0.687																																																	0													9	12	11					7																	1517247		1938	4119	6057	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4877A>G	7.37:g.1517247T>C	ENSP00000385722:p.Asp1626Gly		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.D1825G	ENST00000404767.3	37	c.5474	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422512	0.62622	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.58797	0.42;0.31	4.46	4.46	0.54185	.	0.044863	0.85682	D	0.000000	T	0.63827	0.2544	L	0.32530	0.975	0.53005	D	0.999965	D	0.61697	0.99	D	0.63957	0.92	T	0.67848	-0.5564	10	0.72032	D	0.01	.	13.7465	0.62879	0.0:0.0:0.0:1.0	.	1626	Q8N201	INT1_HUMAN	G	1626;1825	ENSP00000385722:D1626G;ENSP00000374121:D1825G	ENSP00000374121:D1825G	D	-	2	0	INTS1	1483773	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.840000	0.86819	1.661000	0.50771	0.459000	0.35465	GAC	INTS1	-	NULL	ENSG00000164880		0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0	18	0	T			1517247	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	C	C	1517247	T	C	1517247	3	2	54	1	0	0	0	0	1	0	0	0	7802	1667	58	4	1751	4	INTS1	7	1517247	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09		1517247	157621416	142	13436											
THSD7A	221981	genome.wustl.edu	37	chr7	11633043	11633043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtttttgagcaggggCtccactctgaccactcggaa	8	10	12	11	1	1	2	0	2	1	0	3	3	2	3	2	4	1	4	2	4	1	2	rs374534063		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:11633043C>A	ENST00000423059.4	-	3	1360	c.1109G>T	c.(1108-1110)aGc>aTc	p.S370I		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	370	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGAGCAGGGGCTCCACTCTGA	0.512										HNSCC(18;0.044)																																							0								C	ILE/SER	1,3883		0,1,1941	105	103	104		1109	4.5	1	7		104	0,8314		0,0,4157	no	missense	THSD7A	NM_015204.2	142	0,1,6098	AA,AC,CC		0.0,0.0257,0.0082	possibly-damaging	370/1658	11633043	1,12197	1942	4157	6099	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1109G>T	7.37:g.11633043C>A	ENSP00000406482:p.Ser370Ile			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S370I	ENST00000423059.4	37	c.1109	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652540	0.67472	2.57E-4	0.0	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.64260	-0.09	5.39	4.5	0.54988	.	0.228496	0.52532	D	0.000069	D	0.84835	0.5560	H	0.97829	4.085	0.39611	D	0.969889	D	0.55605	0.972	P	0.59171	0.853	D	0.91271	0.5044	10	0.87932	D	0	.	15.3687	0.74545	0.0:0.6952:0.3047:0.0	.	370	Q9UPZ6	THS7A_HUMAN	I	370	ENSP00000406482:S370I	ENSP00000262042:S370I	S	-	2	0	THSD7A	11599568	0.956000	0.32656	0.989000	0.46669	0.886000	0.51366	1.459000	0.35234	1.242000	0.43836	0.655000	0.94253	AGC	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.512	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4		0	46	0	C	XM_928187.2		11633043	-1			no_errors	ENST00000423059	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	11633043	C	A	11633043	3	1	54	1	0	0	0	0	1	0	0	0	15926	797	28	3	3964	3	THSD7A	7	11633043	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	10115796	11633043	147505620	143	13437											
DFNA5	1687	genome.wustl.edu	37	chr7	24749999	24749999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttgcttccctcggagaaGgcagaactctgtagtgcagg	9	9	12	11	1	1	2	0	0	1	2	3	3	2	2	2	3	3	4	2	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:24749999G>T	ENST00000342947.3	-	6	1131	c.706C>A	c.(706-708)Ctt>Att	p.L236I	DFNA5_ENST00000419307.1_Missense_Mutation_p.L72I|DFNA5_ENST00000409970.1_Missense_Mutation_p.L72I|DFNA5_ENST00000545231.1_Missense_Mutation_p.L72I|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.L236I	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	236					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCTCGGAGAAGGCAGAACTCT	0.502																																					GBM(78;184 1250 20134 20900 23600)												0													81	80	80					7																	24749999		2203	4300	6503	SO:0001583	missense	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.706C>A	7.37:g.24749999G>T	ENSP00000339587:p.Leu236Ile		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	pfam_Gasdermin	p.L236I	ENST00000342947.3	37	c.706	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210826	0.58343	.	.	ENSG00000105928	ENST00000342947;ENST00000419307;ENST00000545231;ENST00000409970;ENST00000409775	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.37	4.29	0.51040	.	0.146710	0.47093	D	0.000255	T	0.39200	0.1069	M	0.75447	2.3	0.45822	D	0.998696	P	0.52692	0.955	P	0.52424	0.698	T	0.13335	-1.0513	10	0.34782	T	0.22	-17.1473	11.9215	0.52795	0.0987:0.0:0.9013:0.0	.	236	O60443	DFNA5_HUMAN	I	236;72;72;72;236	ENSP00000339587:L236I;ENSP00000401332:L72I;ENSP00000442661:L72I;ENSP00000387119:L72I;ENSP00000386670:L236I	ENSP00000339587:L236I	L	-	1	0	DFNA5	24716524	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	1.961000	0.40432	2.489000	0.83994	0.563000	0.77884	CTT	DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.502	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2	-	0	75	0	G	NM_004403		24749999	-1	tier1	-	no_errors	ENST00000342947	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	T	T	24749999	G	T	24749999	3	4	54	1	0	0	0	0	1	0	0	0	4468	1000	35	3	804	3	DFNA5	7	24749999	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	13116956	24749999	134388664	144	13438											
NUDCD3	23386	genome.wustl.edu	37	chr7	44530130	44530130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacgcgcaggaaatcctGgacgttgcccacgtgctgca	10	6	13	12	4	0	1	0	0	0	1	1	4	1	3	2	2	4	4	2	2	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:44530130G>T	ENST00000355451.7	-	1	349	c.70C>A	c.(70-72)Cag>Aag	p.Q24K		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	24										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						AGGAAATCCTGGACGTTGCCC	0.632																																																	0													27	35	33					7																	44530130		2088	4227	6315	SO:0001583	missense	0			BC003691	CCDS5490.2	7p13-p12	2005-03-18			ENSG00000015676	ENSG00000015676			22208	protein-coding gene	gene with protein product		610296					Standard	NM_015332		Approved	KIAA1068	uc003tkz.3	Q8IVD9	OTTHUMG00000129174	ENST00000355451.7:c.70C>A	7.37:g.44530130G>T	ENSP00000347626:p.Gln24Lys		Q9BTI3|Q9H7W9|Q9UPT4	Missense_Mutation	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.Q24K	ENST00000355451.7	37	c.70	CCDS5490.2	7	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303845	0.60305	.	.	ENSG00000015676	ENST00000355451	T	0.55234	0.53	4.54	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	L	0.58583	1.82	0.45005	D	0.998021	P	0.47034	0.889	P	0.49451	0.611	T	0.50725	-0.8794	10	0.40728	T	0.16	-2.3322	6.789	0.23689	0.0977:0.1779:0.7244:0.0	.	24	Q8IVD9	NUDC3_HUMAN	K	24	ENSP00000347626:Q24K	ENSP00000347626:Q24K	Q	-	1	0	NUDCD3	44496655	1.000000	0.71417	0.997000	0.53966	0.344000	0.29017	4.236000	0.58675	1.215000	0.43411	0.563000	0.77884	CAG	NUDCD3	-	NULL	ENSG00000015676		0.632	NUDCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD3	HGNC	protein_coding	OTTHUMT00000251248.3	-	0	54	0	G	NM_015332		44530130	-1	tier1	-	no_errors	ENST00000355451	ensembl	human	known	74_37	missense	18.39	71	16	SNP	1.000	T	T	44530130	G	T	44530130	3	4	54	1	0	0	0	0	1	0	0	0	10763	1357	47	3	1039	3	NUDCD3	7	44530130	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	19780131	44530130	114608533	145	13439											
WBSCR27	155368	genome.wustl.edu	37	chr7	73254452	73254453	+	Splice_Site	DEL	TG	TG	-																															agcaccgcgtcgaaggtcccTgtgtgtgtgtgggggggggt																								rs375025208		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:73254452_73254453delTG	ENST00000297873.4	-	5	438		c.e5-2			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CGAAGGTCCCTGTGTGTGTGTG	0.604																																																	0																																										SO:0001630	splice_region_variant	0			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.389-2CA>-	7.37:g.73254462_73254463delTG				Splice_Site	DEL	-	e4-2	ENST00000297873.4	37	c.389-3_389-2	CCDS5561.1	7																																																																																			WBSCR27	-	-	ENSG00000165171		0.604	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR27	HGNC	protein_coding	OTTHUMT00000252312.1		0	26	0	TG	NM_152559	Intron	73254453	-1	tier1		no_errors	ENST00000297873	ensembl	human	known	74_37	splice_site_del	42.86	28	21	DEL	0.468:0.402	-	-	73254453	TG	-	73254452	8	5	54	1	0	1	0	1	0	0	1	0	17315	1594	55	0	358	0	WBSCR27	7	73254452	Splice_Site	DEL	TG	TCGA-L5-A4OE-01A-11D-A27G-09	28724322	73254452	85884211	146	13440											
FGL2	10875	genome.wustl.edu	37	chr7	76826238	76826238	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaggtgtaactctgtaGgtctcactgcttcttttgcc	6	15	10	10	0	4	0	2	0	3	0	5	1	4	1	1	3	3	3	1	3	2	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:76826238G>T	ENST00000248598.5	-	2	710	c.678C>A	c.(676-678)acC>acA	p.T226T	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	226	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TAACTCTGTAGGTCTCACTGC	0.443																																																	0													90	85	87					7																	76826238		2203	4299	6502	SO:0001819	synonymous_variant	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.678C>A	7.37:g.76826238G>T				Silent	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.T226	ENST00000248598.5	37	c.678	CCDS5591.1	7																																																																																			FGL2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000127951		0.443	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	HGNC	protein_coding	OTTHUMT00000253176.1		0	27	0	G	NM_006682		76826238	-1			no_errors	ENST00000248598	ensembl	human	known	74_37	silent	44.44	15	12	SNP	0.994	T	T	76826238	G	T	76826238	2	4	54	1	0	0	0	0	0	0	0	1	5895	987	35	3		3	FGL2	7	76826238	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3571786	76826238	82312425	147	13441											
CACNA2D1	781	genome.wustl.edu	37	chr7	81978910	81978910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgattgactccacttgCtgtttttgccagtgtgacaa	9	14	9	9	0	0	3	0	3	0	0	1	3	1	3	2	0	3	3	2	0	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:81978910C>G	ENST00000356253.5	-	2	406	c.151G>C	c.(151-153)Gca>Cca	p.A51P	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A51P|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.A51P			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	51					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ACTCCACTTGCTGTTTTTGCC	0.368																																																	0													210	194	199					7																	81978910		2203	4300	6503	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.151G>C	7.37:g.81978910C>G	ENSP00000348589:p.Ala51Pro		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A51P	ENST00000356253.5	37	c.151		7	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733893	0.89482	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24908	3.17;3.16;1.83	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000001	T	0.46678	0.1405	L	0.59436	1.845	0.80722	D	1	D	0.62365	0.991	P	0.59889	0.865	T	0.22487	-1.0215	10	0.62326	D	0.03	-19.6819	19.3727	0.94495	0.0:1.0:0.0:0.0	.	51	P54289-2	.	P	51	ENSP00000349320:A51P;ENSP00000348589:A51P;ENSP00000405395:A51P	ENSP00000284088:A51P	A	-	1	0	CACNA2D1	81816846	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.322000	0.65852	2.878000	0.98634	0.650000	0.86243	GCA	CACNA2D1	-	NULL	ENSG00000153956		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	43	0	C			81978910	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	G	G	81978910	C	G	81978910	3	3	54	1	0	0	0	0	1	0	0	0	2555	797	28	5	3276	5	CACNA2D1	7	81978910	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	5152672	81978910	77159753	148	13442											
SEMA3A	10371	genome.wustl.edu	37	chr7	83590866	83590866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccattgtgttgagattggGgtggttgatgagctgcatga	8	14	15	4	0	0	4	0	4	0	1	1	5	1	4	1	3	2	4	1	3	0	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:83590866G>A	ENST00000265362.4	-	17	2451	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P713S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	713					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TTGAGATTGGGGTGGTTGATG	0.468																																																	0													192	167	175					7																	83590866		2203	4300	6503	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2137C>T	7.37:g.83590866G>A	ENSP00000265362:p.Pro713Ser			Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.P713S	ENST00000265362.4	37	c.2137	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023266	0.54683	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.27402	1.67;1.67	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.37561	1.115	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.05599	-1.0875	10	0.12430	T	0.62	.	20.3668	0.98882	0.0:0.0:1.0:0.0	.	713	Q14563	SEM3A_HUMAN	S	713	ENSP00000265362:P713S;ENSP00000415260:P713S	ENSP00000265362:P713S	P	-	1	0	SEMA3A	83428802	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.751000	0.98889	2.894000	0.99253	0.655000	0.94253	CCC	SEMA3A	-	NULL	ENSG00000075213		0.468	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	77	0	G	NM_006080		83590866	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	52.10	57	62	SNP	1.000	A	A	83590866	G	A	83590866	3	1	54	1	0	0	0	0	1	0	0	0	14069	1232	43	3	182	3	SEMA3A	7	83590866	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1611956	83590866	75547797	149	13443											
PON3	5446	genome.wustl.edu	37	chr7	95024002	95024002	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggttctactggctccacTtctcgagaggcattcaccct	7	12	8	14	1	4	1	2	0	2	1	6	2	5	1	2	3	1	3	2	3	1	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:95024002T>G	ENST00000265627.5	-	2	109	c.99A>C	c.(97-99)gaA>gaC	p.E33D	PON3_ENST00000475439.1_5'UTR|PON1_ENST00000542556.1_Missense_Mutation_p.E33D|PON3_ENST00000451904.1_Missense_Mutation_p.E33D|PON3_ENST00000427422.1_Missense_Mutation_p.E33D	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	33					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	CTGGCTCCACTTCTCGAGAGG	0.448																																																	0													156	125	136					7																	95024002		2203	4300	6503	SO:0001583	missense	0			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.99A>C	7.37:g.95024002T>G	ENSP00000265627:p.Glu33Asp		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1	p.E33D	ENST00000265627.5	37	c.99	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983600	0.35036	.	.	ENSG00000005421;ENSG00000105852;ENSG00000105852	ENST00000542556;ENST00000265627;ENST00000427422	T;T;T	0.42513	0.97;0.97;0.97	4.75	2.28	0.28536	Six-bladed beta-propeller, TolB-like (1);	0.416142	0.27473	N	0.019213	T	0.42268	0.1195	M	0.83953	2.67	0.09310	N	0.999999	B;B;B	0.16166	0.016;0.01;0.002	B;B;B	0.17098	0.005;0.017;0.008	T	0.46707	-0.9172	10	0.72032	D	0.01	-10.283	5.4517	0.16568	0.1749:0.0:0.1828:0.6423	.	33;33;33	B4E2I0;F5H4W9;Q15166	.;.;PON3_HUMAN	D	33	ENSP00000444854:E33D;ENSP00000265627:E33D;ENSP00000413276:E33D	ENSP00000444854:E33D	E	-	3	2	PON1;PON3	94861938	0.003000	0.15002	0.523000	0.27875	0.008000	0.06430	0.015000	0.13355	0.380000	0.24823	-0.344000	0.07964	GAA	PON1	-	NULL	ENSG00000005421		0.448	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON1	HGNC	protein_coding	OTTHUMT00000333007.1	-	0	80	0	T	NM_000940		95024002	-1	tier1	-	no_errors	ENST00000542556	ensembl	human	known	74_37	missense	40.00	39	26	SNP	0.154	G	G	95024002	T	G	95024002	3	3	54	1	0	0	0	0	1	0	0	0	12289	1606	56	4	997	4	PON3	7	95024002	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	11433136	95024002	64114661	150	13444											
GAL3ST4	79690	genome.wustl.edu	37	chr7	99757845	99757845	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcggccacagctgtctgCagccggccctggccgtattt	5	9	12	15	3	1	0	0	0	1	0	2	0	1	0	4	3	4	4	4	3	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:99757845C>A	ENST00000360039.4	-	4	1559	c.1167G>T	c.(1165-1167)ctG>ctT	p.L389L	GAL3ST4_ENST00000413800.1_Silent_p.L389L|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000426974.2_Silent_p.L327L	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	389					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCTGTCTGCAGCCGGCCCT	0.617																																																	0													46	52	50					7																	99757845		2203	4300	6503	SO:0001819	synonymous_variant	0			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1167G>T	7.37:g.99757845C>A			A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Silent	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.L389	ENST00000360039.4	37	c.1167	CCDS5688.1	7																																																																																			GAL3ST4	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000197093		0.617	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST4	HGNC	protein_coding	OTTHUMT00000337495.2	-	0	41	0	C	NM_024637		99757845	-1	tier1	-	no_errors	ENST00000360039	ensembl	human	known	74_37	silent	27.87	44	17	SNP	0.997	A	A	99757845	C	A	99757845	2	1	54	1	0	0	0	0	0	0	0	1	6225	697	25	3		3	GAL3ST4	7	99757845	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	4733843	99757845	59380818	151	13445											
CDHR3	222256	genome.wustl.edu	37	chr7	105621432	105621432	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggttgtcaccactgggatgGaacaactagattttgaaaca	14	10	10	7	0	1	2	1	1	0	1	1	4	1	4	1	3	3	1	1	3	4	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:105621432G>T	ENST00000317716.9	+	3	348	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Nonsense_Mutation_p.E2*|CDHR3_ENST00000542731.1_Nonsense_Mutation_p.E90*|CDHR3_ENST00000541203.1_Nonsense_Mutation_p.E90*	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	90	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACTGGGATGGAACAACTAGA	0.398																																																	0													70	64	66					7																	105621432		1907	4138	6045	SO:0001587	stop_gained	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.268G>T	7.37:g.105621432G>T	ENSP00000325954:p.Glu90*		Q8TCI7	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E90*	ENST00000317716.9	37	c.268	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.155803	0.94686	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080;ENST00000541203	.	.	.	5.02	3.04	0.35103	.	0.245131	0.34484	N	0.003922	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-14.9559	13.1166	0.59303	0.0:0.4998:0.5002:0.0	.	.	.	.	X	90;90;2;90	.	ENSP00000325954:E90X	E	+	1	0	CDHR3	105408668	0.998000	0.40836	0.990000	0.47175	0.698000	0.40448	3.134000	0.50538	1.443000	0.47586	0.561000	0.74099	GAA	CDHR3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000128536		0.398	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0	58	0	G	NM_152750		105621432	1	tier1	-	no_errors	ENST00000317716	ensembl	human	known	74_37	nonsense	9.26	49	5	SNP	0.662	T	T	105621432	G	T	105621432	4	4	54	1	0	0	0	0	0	1	0	0	3127	1175	41	3	278	3	CDHR3	7	105621432	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	5863587	105621432	53517231	152	13446											
SLC26A4	5172	genome.wustl.edu	37	chr7	107340538	107340538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgccagattgaagaacCtcaaggagtgaagattctta	15	11	9	6	0	2	5	1	2	1	3	2	6	2	6	2	1	2	0	2	1	6	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:107340538C>A	ENST00000265715.3	+	15	1849	c.1625C>A	c.(1624-1626)cCt>cAt	p.P542H	SLC26A4_ENST00000541474.1_Missense_Mutation_p.P103H|SLC26A4_ENST00000544569.1_Missense_Mutation_p.P129H|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Missense_Mutation_p.P111H	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	542	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATTGAAGAACCTCAAGGAGTG	0.333									Pendred syndrome																																								0													101	105	104					7																	107340538		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1625C>A	7.37:g.107340538C>A	ENSP00000265715:p.Pro542His		B7Z266|O43170	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.P542H	ENST00000265715.3	37	c.1625	CCDS5746.1	7	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763594	0.49574	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	5.55	0.761	0.18448	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.441733	0.24664	N	0.036612	D	0.91099	0.7198	M	0.69463	2.115	0.35870	D	0.82814	D;D;D	0.60160	0.975;0.98;0.987	P;P;D	0.67900	0.771;0.865;0.954	D	0.88535	0.3105	10	0.23302	T	0.38	.	9.8748	0.41197	0.0:0.6726:0.0:0.3274	.	103;129;542	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	H	542;103;129;111	ENSP00000265715:P542H;ENSP00000439743:P103H;ENSP00000437427:P129H;ENSP00000441209:P111H	ENSP00000265715:P542H	P	+	2	0	SLC26A4	107127774	0.978000	0.34361	0.987000	0.45799	0.988000	0.76386	0.479000	0.22228	-0.130000	0.11599	0.563000	0.77884	CCT	SLC26A4	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	ENSG00000091137		0.333	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	-	0	32	0	C	NM_000441		107340538	1	tier1	-	no_errors	ENST00000265715	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.995	A	A	107340538	C	A	107340538	3	1	54	1	0	0	0	0	1	0	0	0	14564	681	24	3	1679	3	SLC26A4	7	107340538	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1719106	107340538	51798125	153	13447											
SLC26A3	1811	genome.wustl.edu	37	chr7	107423283	107423283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccaatggctagaacgaCaatcagcacgatgatggcac	16	6	9	10	2	1	2	1	1	0	1	2	4	2	2	1	2	2	3	1	2	5	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:107423283C>G	ENST00000340010.5	-	11	1454	c.1270G>C	c.(1270-1272)Gtc>Ctc	p.V424L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V389L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	424					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCTAGAACGACAATCAGCACG	0.428																																																	0													85	82	83					7																	107423283		2203	4300	6503	SO:0001583	missense	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1270G>C	7.37:g.107423283C>G	ENSP00000345873:p.Val424Leu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V424L	ENST00000340010.5	37	c.1270	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102511	0.56183	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.93247	-3.19;-3.19	6.07	4.24	0.50183	Sulphate transporter (1);	0.227351	0.44483	D	0.000458	D	0.96147	0.8744	M	0.89095	3.005	0.48762	D	0.999708	D;P	0.54964	0.969;0.873	P;P	0.55087	0.768;0.731	D	0.95618	0.8678	10	0.48119	T	0.1	.	15.6775	0.77338	0.2506:0.7494:0.0:0.0	.	389;424	G5E9U3;P40879	.;S26A3_HUMAN	L	389;424	ENSP00000415817:V389L;ENSP00000345873:V424L	ENSP00000345873:V424L	V	-	1	0	SLC26A3	107210519	1.000000	0.71417	0.266000	0.24541	0.036000	0.12997	2.842000	0.48230	0.861000	0.35504	0.655000	0.94253	GTC	SLC26A3	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091138		0.428	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	-	0	65	0	C	NM_000111		107423283	-1	tier1	-	no_errors	ENST00000340010	ensembl	human	known	74_37	missense	55.17	26	32	SNP	0.943	G	G	107423283	C	G	107423283	3	3	54	1	0	0	0	0	1	0	0	0	14563	478	17	5	1068	5	SLC26A3	7	107423283	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	82745	107423283	51715380	154	13448											
MET	4233	genome.wustl.edu	37	chr7	116339373	116339373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaatgaggaagaccttCagaaggttgctgagtacaag	14	11	11	5	0	1	4	1	2	0	2	1	5	1	5	1	2	2	3	1	2	6	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:116339373C>A	ENST00000318493.6	+	2	422	c.235C>A	c.(235-237)Cag>Aag	p.Q79K	MET_ENST00000436117.2_Missense_Mutation_p.Q79K|MET_ENST00000397752.3_Missense_Mutation_p.Q79K			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGAAGACCTTCAGAAGGTTGC	0.458			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													90	86	87					7																	116339373		1915	4132	6047	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.235C>A	7.37:g.116339373C>A	ENSP00000317272:p.Gln79Lys		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.Q79K	ENST00000318493.6	37	c.235	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	8.359	0.832721	0.16820	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.04603	3.59;3.59;3.59;3.59	5.9	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.241003	0.41712	D	0.000821	T	0.06234	0.0161	L	0.48642	1.525	0.80722	D	1	B;B;B;B;B;B;B;B;B;B;B;B;B	0.22080	0.021;0.018;0.018;0.018;0.018;0.018;0.018;0.018;0.004;0.001;0.018;0.064;0.064	B;B;B;B;B;B;B;B;B;B;B;B;B	0.26416	0.023;0.026;0.042;0.042;0.042;0.026;0.042;0.026;0.011;0.009;0.026;0.069;0.069	T	0.33394	-0.9870	10	0.22109	T	0.4	-4.4631	12.0145	0.53307	0.1368:0.7318:0.1314:0.0	.	79;79;79;79;79;79;79;79;79;79;79;79;79	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	K	98;98;79;79;79	ENSP00000413857:Q98K;ENSP00000380860:Q79K;ENSP00000317272:Q79K;ENSP00000410980:Q79K	ENSP00000317272:Q79K	Q	+	1	0	MET	116126609	0.989000	0.36119	0.996000	0.52242	0.675000	0.39556	2.767000	0.47637	1.498000	0.48600	0.655000	0.94253	CAG	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000105976		0.458	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0	31	0	C			116339373	1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	44.62	36	29	SNP	0.990	A	A	116339373	C	A	116339373	3	1	54	1	0	0	0	0	1	0	0	0	9523	827	29	3	237	3	MET	7	116339373	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	8916090	116339373	42799290	155	13449											
KCND2	3751	genome.wustl.edu	37	chr7	119915538	119915538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgacagacaatgaggaCgtcagcggagcctttgtcac	11	8	13	9	2	2	4	2	3	0	1	2	6	2	6	1	2	2	0	1	2	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:119915538C>T	ENST00000331113.4	+	1	1817	c.852C>T	c.(850-852)gaC>gaT	p.D284D		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	284					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.D284D(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACAATGAGGACGTCAGCGGAG	0.532																																																	1	Substitution - coding silent(1)	endometrium(1)											161	131	141					7																	119915538		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.852C>T	7.37:g.119915538C>T			O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.D284	ENST00000331113.4	37	c.852	CCDS5776.1	7																																																																																			KCND2	-	pfam_Ion_trans_dom	ENSG00000184408		0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	-	0	75	0	C	NM_012281		119915538	1	tier1	-	no_errors	ENST00000331113	ensembl	human	known	74_37	silent	23.73	45	14	SNP	0.991	T	T	119915538	C	T	119915538	2	4	54	1	0	0	0	0	0	0	0	1	8046	535	19	1		1	KCND2	7	119915538	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3576165	119915538	39223125	156	13450											
AASS	10157	genome.wustl.edu	37	chr7	121773700	121773700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatcctccctccggacGgccaacacagctttgtggtg	7	10	9	15	2	1	0	1	0	0	0	4	1	4	1	4	3	2	1	4	3	1	2	rs138449792		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:121773700G>A	ENST00000393376.1	-	1	176	c.81C>T	c.(79-81)gcC>gcT	p.A27A	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.A27A			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	27					cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCCTCCGGACGGCCAACACAG	0.567																																																	0								G		0,4406		0,0,2203	113	109	110		81	-5.7	0.1	7	dbSNP_134	110	2,8598		0,2,4298	no	coding-synonymous	AASS	NM_005763.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		27/927	121773700	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.81C>T	7.37:g.121773700G>A			O95462	Silent	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.A27	ENST00000393376.1	37	c.81	CCDS5783.1	7																																																																																			AASS	-	NULL	ENSG00000008311		0.567	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	-	0	76	0	G	NM_005763		121773700	-1	tier1	rs138449792	no_errors	ENST00000393376	ensembl	human	known	74_37	silent	58.49	22	31	SNP	0.030	A	A	121773700	G	A	121773700	2	1	54	1	0	0	0	0	0	0	0	1	24	1103	39	1		1	AASS	7	121773700	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1858162	121773700	37364963	157	13451											
CPA5	93979	genome.wustl.edu	37	chr7	129989932	129989932	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggacttgcttacagcatCatgataaaggacatccaggt	13	10	9	9	0	1	1	1	1	0	0	2	3	2	3	1	3	3	2	1	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:129989932C>A	ENST00000485477.1	+	4	1444	c.315C>A	c.(313-315)atC>atA	p.I105I	CPA5_ENST00000393213.3_Silent_p.I105I|CPA5_ENST00000474905.1_Silent_p.I105I|CPA5_ENST00000431780.2_Silent_p.I105I|CPA5_ENST00000355388.3_Silent_p.I105I|CPA5_ENST00000466363.2_Silent_p.I105I|CPA5_ENST00000461828.1_Silent_p.I105I			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	105						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CTTACAGCATCATGATAAAGG	0.552																																																	0													106	103	104					7																	129989932		2203	4300	6503	SO:0001819	synonymous_variant	0			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.315C>A	7.37:g.129989932C>A			G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.I105	ENST00000485477.1	37	c.315	CCDS5819.1	7																																																																																			CPA5	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000158525		0.552	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA5	HGNC	protein_coding	OTTHUMT00000349712.1		0	40	0	C	NM_001127441		129989932	1			no_errors	ENST00000355388	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.981	A	A	129989932	C	A	129989932	2	1	54	1	0	0	0	0	0	0	0	1	3800	816	29	3		3	CPA5	7	129989932	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	8216232	129989932	29148731	158	13452											
TRIM24	8805	genome.wustl.edu	37	chr7	138268703	138268703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgaagattttgtagctGattttagattgatctttcaa	12	17	7	5	0	2	5	1	3	1	2	2	5	2	5	1	0	2	2	1	0	5	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:138268703G>T	ENST00000343526.4	+	18	3117	c.2902G>T	c.(2902-2904)Gat>Tat	p.D968Y	TRIM24_ENST00000415680.2_Missense_Mutation_p.D934Y			O15164	TIF1A_HUMAN	tripartite motif containing 24	968	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTTGTAGCTGATTTTAGATT	0.348																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													75	84	81					7																	138268703		2203	4300	6503	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2902G>T	7.37:g.138268703G>T	ENSP00000340507:p.Asp968Tyr		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.D968Y	ENST00000343526.4	37	c.2902	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941622	0.92526	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680	T;T	0.44881	0.91;0.91	5.95	5.95	0.96441	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.80232	0.4585	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87215	0.2250	10	0.87932	D	0	-24.2854	19.9698	0.97280	0.0:0.0:1.0:0.0	.	968;934	O15164;O15164-2	TIF1A_HUMAN;.	Y	968;360;879;934	ENSP00000340507:D968Y;ENSP00000390829:D934Y	ENSP00000340507:D968Y	D	+	1	0	TRIM24	137919243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.687000	0.84139	2.817000	0.96982	0.563000	0.77884	GAT	TRIM24	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000122779		0.348	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	-	0	41	0	G	NM_015905		138268703	1	tier1	-	no_errors	ENST00000343526	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	138268703	G	T	138268703	3	4	54	1	0	0	0	0	1	0	0	0	16546	1290	45	3	2972	3	TRIM24	7	138268703	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	8278771	138268703	20869960	159	13453											
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138764691	138764691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctcttgactgccgttCtctaaaaacctctggcttgt	7	14	8	12	1	3	1	0	1	3	0	5	1	4	1	3	2	2	2	3	2	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:138764691C>A	ENST00000242351.5	-	4	1312	c.996G>T	c.(994-996)gaG>gaT	p.E332D	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.E332D|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.E332D	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	332					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GACTGCCGTTCTCTAAAAACC	0.552																																																	0													71	70	70					7																	138764691		2203	4300	6503	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.996G>T	7.37:g.138764691C>A	ENSP00000242351:p.Glu332Asp		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E332D	ENST00000242351.5	37	c.996	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276365	0.59649	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.29655	1.56;1.56;1.56	4.19	4.19	0.49359	.	0.274302	0.26265	N	0.025361	T	0.45657	0.1353	L	0.52573	1.65	0.20638	N	0.999872	D;D	0.71674	0.998;0.989	D;P	0.66084	0.941;0.828	T	0.22487	-1.0215	10	0.56958	D	0.05	.	12.2301	0.54482	0.0:1.0:0.0:0.0	.	332;332	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	D	332;332;332;92	ENSP00000242351:E332D;ENSP00000418385:E332D;ENSP00000419855:E332D	ENSP00000242351:E332D	E	-	3	2	ZC3HAV1	138415231	0.800000	0.28916	0.517000	0.27799	0.021000	0.10359	1.761000	0.38440	2.302000	0.77476	0.650000	0.86243	GAG	ZC3HAV1	-	NULL	ENSG00000105939		0.552	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	-	0	52	0	C	NM_020119		138764691	-1	tier1	-	no_errors	ENST00000242351	ensembl	human	known	74_37	missense	13.79	50	8	SNP	0.400	A	A	138764691	C	A	138764691	3	1	54	1	0	0	0	0	1	0	0	0	17623	912	32	3	1756	3	ZC3HAV1	7	138764691	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	495988	138764691	20373972	160	13454											
GIMAP7	168537	genome.wustl.edu	37	chr7	150217465	150217465	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttgttcactcgcaaaGaagagttggagggccagagc	11	9	12	9	1	3	3	2	0	1	3	4	4	3	4	1	2	1	3	1	2	2	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:150217465G>T	ENST00000313543.4	+	2	560	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	135	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCGCAAAGAAGAGTTGGA	0.527																																																	0													76	70	72					7																	150217465		2203	4300	6503	SO:0001587	stop_gained	0			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"GTPases, IMAP"	22404	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 7"					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.403G>T	7.37:g.150217465G>T	ENSP00000315474:p.Glu135*			Nonsense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.E135*	ENST00000313543.4	37	c.403	CCDS5903.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.660254	0.96734	.	.	ENSG00000179144	ENST00000313543	.	.	.	5.09	5.09	0.68999	.	0.188486	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8816	0.63686	0.0:0.0:1.0:0.0	.	.	.	.	X	135	.	ENSP00000315474:E135X	E	+	1	0	GIMAP7	149848398	1.000000	0.71417	0.993000	0.49108	0.681000	0.39784	6.951000	0.75983	2.672000	0.90937	0.655000	0.94253	GAA	GIMAP7	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000179144		0.527	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP7	HGNC	protein_coding	OTTHUMT00000349277.1	-	0	40	0	G	NM_153236		150217465	1	tier1	-	no_errors	ENST00000313543	ensembl	human	known	74_37	nonsense	26.53	36	13	SNP	0.972	T	T	150217465	G	T	150217465	4	4	54	1	0	0	0	0	0	1	0	0	6410	943	33	3	405	3	GIMAP7	7	150217465	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	11452774	150217465	8921198	161	13455											
PTPRN2	5799	genome.wustl.edu	37	chr7	157926523	157926523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggagctccccaaacgcagCggccccgggctccgaatgcg	7	5	13	16	5	0	0	0	0	0	0	2	2	2	1	5	3	4	3	5	3	2	1	rs151334443		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr7:157926523C>T	ENST00000389418.4	-	9	1411	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	PTPRN2_ENST00000409483.1_Missense_Mutation_p.A430T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A491T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A451T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A468T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	468					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A468P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCAAACGCAGCGGCCCCGGGC	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		16373	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)							THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	43	49	47		1402,1351,1402	-1.6	0	7	dbSNP_134	47	0,8600		0,0,4300	no	missense,missense,missense	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	468/1016,451/999,468/987	157926523	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1402G>A	7.37:g.157926523C>T	ENSP00000374069:p.Ala468Thr		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A491T	ENST00000389418.4	37	c.1471	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	9.602	1.128916	0.21041	2.27E-4	0.0	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02837	4.14;4.14;4.15;4.14;4.14	3.87	-1.56	0.08532	.	2.359550	0.02623	U	0.103452	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.23316	0.043;0.05;0.083;0.05;0.05	B;B;B;B;B	0.14578	0.007;0.005;0.011;0.005;0.005	T	0.44034	-0.9354	10	0.23891	T	0.37	.	4.508	0.11898	0.1543:0.3688:0.0:0.4768	.	491;430;468;451;468	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	430;468;451;468;491	ENSP00000387114:A430T;ENSP00000374064:A468T;ENSP00000374067:A451T;ENSP00000374069:A468T;ENSP00000385464:A491T	ENSP00000374064:A468T	A	-	1	0	PTPRN2	157619284	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.779000	0.04659	-0.337000	0.08426	0.585000	0.79938	GCT	PTPRN2	-	NULL	ENSG00000155093		0.627	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1		0	42	0	C			157926523	-1			no_errors	ENST00000404321	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T	T	157926523	C	T	157926523	3	4	54	1	0	0	0	0	1	0	0	0	12853	768	27	1	1705	1	PTPRN2	7	157926523	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7709058	157926523	1212140	162	13456											
ADAM7	8756	genome.wustl.edu	37	chr8	24356795	24356795	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaaaaggtctatatctCaaccaattgcccctctcagt	12	11	6	12	0	3	0	2	0	3	0	5	1	3	1	3	2	2	0	3	2	6	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr8:24356795C>A	ENST00000175238.6	+	17	1972	c.1889C>A	c.(1888-1890)tCa>tAa	p.S630*	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.S402*|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.S630*|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	630	Cys-rich.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTCTATATCTCAACCAATTGC	0.343																																																	0													148	135	139					8																	24356795		2203	4300	6503	SO:0001587	stop_gained	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.1889C>A	8.37:g.24356795C>A	ENSP00000175238:p.Ser630*		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.S630*	ENST00000175238.6	37	c.1889	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274171	0.80580	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	4.92	4.04	0.47022	.	0.749130	0.11548	N	0.553098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0778	0.48043	0.0:0.9102:0.0:0.0898	.	.	.	.	X	630;630;402;445	.	ENSP00000175238:S630X	S	+	2	0	ADAM7	24412685	0.043000	0.20138	0.127000	0.21898	0.079000	0.17450	2.294000	0.43567	1.435000	0.47434	0.655000	0.94253	TCA	ADAM7	-	NULL	ENSG00000069206		0.343	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	86	0	C	NM_003817		24356795	1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	nonsense	34.69	31	17	SNP	0.179	A	A	24356795	C	A	24356795	4	1	54	1	0	0	0	0	0	1	0	0	251	838	29	3	1955	3	ADAM7	8	24356795	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		24356795	122007227	163	13457											
PTK2B	2185	genome.wustl.edu	37	chr8	27308400	27308400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagtggctcaggcaggaGgagaagtccctggtgagcac	10	6	15	10	0	1	2	1	1	0	1	2	4	2	3	2	5	2	3	2	5	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr8:27308400G>T	ENST00000397501.1	+	30	3283	c.2475G>T	c.(2473-2475)gaG>gaT	p.E825D	PTK2B_ENST00000346049.5_Missense_Mutation_p.E825D|PTK2B_ENST00000338238.4_Missense_Mutation_p.E783D|PTK2B_ENST00000420218.2_Missense_Mutation_p.E783D|PTK2B_ENST00000517339.1_Missense_Mutation_p.E783D|PTK2B_ENST00000397497.4_Missense_Mutation_p.E529D|PTK2B_ENST00000544172.1_Missense_Mutation_p.E825D	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	825	Interaction with TGFB1I1. {ECO:0000250}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCAGGCAGGAGGAGAAGTCCC	0.607																																																	0													96	85	89					8																	27308400		2203	4300	6503	SO:0001583	missense	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2475G>T	8.37:g.27308400G>T	ENSP00000380638:p.Glu825Asp		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E825D	ENST00000397501.1	37	c.2475	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.097487	0.94197	.	.	ENSG00000120899	ENST00000397501;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	T;T;T;T;T;T;T	0.80123	-1.34;-1.19;-1.34;-1.34;-1.19;-1.19;-1.11	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.89791	0.6817	M	0.77103	2.36	0.80722	D	1	D;P	0.89917	1.0;0.861	D;P	0.91635	0.999;0.533	D	0.90488	0.4465	10	0.66056	D	0.02	.	17.0295	0.86457	0.0:0.0:1.0:0.0	.	783;825	Q14289-2;Q14289	.;FAK2_HUMAN	D	825;783;825;825;783;783;529	ENSP00000380638:E825D;ENSP00000342242:E783D;ENSP00000440926:E825D;ENSP00000332816:E825D;ENSP00000391995:E783D;ENSP00000427931:E783D;ENSP00000380634:E529D	ENSP00000342242:E783D	E	+	3	2	PTK2B	27364317	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.033000	0.49743	2.609000	0.88269	0.655000	0.94253	GAG	PTK2B	-	NULL	ENSG00000120899		0.607	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	-	0	50	0	G	NM_004103		27308400	1	tier1	-	no_errors	ENST00000346049	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	T	T	27308400	G	T	27308400	3	4	54	1	0	0	0	0	1	0	0	0	12806	991	35	3	2569	3	PTK2B	8	27308400	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2951605	27308400	119055622	164	13458											
EFCAB1	79645	genome.wustl.edu	37	chr8	49647687	49647687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggttaaggtgtccgtcagCttctgcagtttcttgcggtt	4	17	12	8	2	3	0	1	0	2	0	4	0	4	0	1	3	3	5	1	3	1	6	rs372708156		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr8:49647687C>T	ENST00000262103.3	-	1	104	c.24G>A	c.(22-24)aaG>aaA	p.K8K	EFCAB1_ENST00000433756.1_Silent_p.K8K|EFCAB1_ENST00000521002.1_5'UTR|EFCAB1_ENST00000523092.1_Silent_p.K8K	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	8							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TGTCCGTCAGCTTCTGCAGTT	0.627																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	187	170	176		24,24	4.2	1	8		176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EFCAB1	NM_001142857.1,NM_024593.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	8/160,8/212	49647687	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.24G>A	8.37:g.49647687C>T			B4DSB4|E7EVN7	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.K8	ENST00000262103.3	37	c.24	CCDS6145.1	8																																																																																			EFCAB1	-	NULL	ENSG00000034239		0.627	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	-	0	80	0	C	NM_024593		49647687	-1	tier1	-	no_errors	ENST00000262103	ensembl	human	known	74_37	silent	32.20	40	19	SNP	0.998	T	T	49647687	C	T	49647687	2	4	54	1	0	0	0	0	0	0	0	1	4947	796	28	3		3	EFCAB1	8	49647687	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	22339287	49647687	96716335	165	13459											
ST18	9705	genome.wustl.edu	37	chr8	53074007	53074007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccgaaaacttgggcatCaaaactggcataatcaaatg	16	10	7	8	1	2	0	2	0	0	0	2	1	2	0	1	2	3	2	1	2	7	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr8:53074007C>A	ENST00000276480.7	-	14	2205	c.1522G>T	c.(1522-1524)Gat>Tat	p.D508Y		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	508					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ACTTGGGCATCAAAACTGGCA	0.433																																																	0													213	205	208					8																	53074007		2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1522G>T	8.37:g.53074007C>A	ENSP00000276480:p.Asp508Tyr		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D508Y	ENST00000276480.7	37	c.1522	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690814	0.88735	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.61742	0.08;0.08	5.46	5.46	0.80206	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.83603	2.65	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71870	0.975;0.971	T	0.81265	-0.1011	10	0.72032	D	0.01	-17.2818	19.7302	0.96179	0.0:1.0:0.0:0.0	.	508;508	E5RHS3;O60284	.;ST18_HUMAN	Y	508	ENSP00000276480:D508Y;ENSP00000428521:D508Y	ENSP00000276480:D508Y	D	-	1	0	ST18	53236560	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.252000	0.78309	2.724000	0.93272	0.558000	0.71614	GAT	ST18	-	pfam_Myelin_TF	ENSG00000147488		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	109	0	C			53074007	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	30.93	67	30	SNP	1.000	A	A	53074007	C	A	53074007	3	1	54	1	0	0	0	0	1	0	0	0	15259	826	29	3	1673	3	ST18	8	53074007	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3426320	53074007	93290015	166	13460											
NECAB1	64168	genome.wustl.edu	37	chr8	91937792	91937792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaagccagaagtcctgtCgattcaatggcctggaaaac	13	7	10	11	1	1	1	1	0	0	1	3	3	2	2	4	2	3	0	4	2	5	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr8:91937792C>T	ENST00000417640.2	+	7	861	c.524C>T	c.(523-525)tCg>tTg	p.S175L		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	175						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAGTCCTGTCGATTCAATGG	0.483																																																	0													61	67	65					8																	91937792		1977	4156	6133	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.524C>T	8.37:g.91937792C>T	ENSP00000387380:p.Ser175Leu		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.S175L	ENST00000417640.2	37	c.524	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913901	0.52439	.	.	ENSG00000123119	ENST00000417640	T	0.19532	2.14	5.44	4.54	0.55810	.	0.170268	0.53938	N	0.000047	T	0.13329	0.0323	L	0.46157	1.445	0.80722	D	1	P	0.48640	0.913	B	0.28385	0.089	T	0.06570	-1.0819	10	0.38643	T	0.18	-17.1936	9.1644	0.37043	0.1438:0.7771:0.0:0.079	.	175	Q8N987	NECA1_HUMAN	L	175	ENSP00000387380:S175L	ENSP00000387380:S175L	S	+	2	0	NECAB1	92006968	0.997000	0.39634	0.874000	0.34290	0.972000	0.66771	3.669000	0.54561	1.229000	0.43630	0.655000	0.94253	TCG	NECAB1	-	NULL	ENSG00000123119		0.483	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	-	0	75	0	C	NM_022351		91937792	1	tier1	-	no_errors	ENST00000417640	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.975	T	T	91937792	C	T	91937792	3	4	54	1	0	0	0	0	1	0	0	0	10343	893	31	1	550	1	NECAB1	8	91937792	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	38863785	91937792	54426230	167	13461											
OXR1	55074	genome.wustl.edu	37	chr8	107718695	107718695	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatagactcaagaatcCgagatgcaggtaatgatagt	17	8	11	5	1	1	4	1	1	0	3	2	6	2	5	1	2	1	2	1	2	6	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr8:107718695C>A	ENST00000442977.2	+	8	1048	c.949C>A	c.(949-951)Cga>Aga	p.R317R	OXR1_ENST00000497705.1_Silent_p.R249R|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.R316R|OXR1_ENST00000312046.6_Silent_p.R309R|OXR1_ENST00000517566.2_Silent_p.R316R|OXR1_ENST00000445937.1_Silent_p.R316R	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	317					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTCAAGAATCCGAGATGCAGG	0.423																																																	0													91	92	92					8																	107718695		2203	4300	6503	SO:0001819	synonymous_variant	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.949C>A	8.37:g.107718695C>A			A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.R317	ENST00000442977.2	37	c.949	CCDS56548.1	8																																																																																			OXR1	-	NULL	ENSG00000164830		0.423	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding			0	42	0	C	NM_181354		107718695	1			no_errors	ENST00000442977	ensembl	human	known	74_37	silent	14.29	36	6	SNP	0.972	A	A	107718695	C	A	107718695	2	1	54	1	0	0	0	0	0	0	0	1	11373	644	23	2		2	OXR1	8	107718695	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	15780903	107718695	38645327	168	13462											
ZC3H3	23144	genome.wustl.edu	37	chr8	144550431	144550431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcccatccgttttcttgCaggtgccccggacaaacctg	7	10	10	14	2	1	0	0	0	1	0	3	1	3	1	5	3	3	2	5	3	1	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr8:144550431C>A	ENST00000262577.5	-	8	2154	c.2123G>T	c.(2122-2124)tGc>tTc	p.C708F		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	708					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGTTTTCTTGCAGGTGCCCCG	0.657																																																	0													60	56	58					8																	144550431		2202	4300	6502	SO:0001583	missense	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2123G>T	8.37:g.144550431C>A	ENSP00000262577:p.Cys708Phe		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.C708F	ENST00000262577.5	37	c.2123	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973968	0.74246	.	.	ENSG00000014164	ENST00000262577	D	0.85629	-2.01	5.4	4.5	0.54988	Zinc finger, CCCH-type (2);	0.054211	0.64402	N	0.000001	D	0.95313	0.8479	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96942	0.9688	10	0.87932	D	0	-22.467	15.3121	0.74042	0.141:0.859:0.0:0.0	.	708	Q8IXZ2	ZC3H3_HUMAN	F	708	ENSP00000262577:C708F	ENSP00000262577:C708F	C	-	2	0	ZC3H3	144621574	1.000000	0.71417	0.973000	0.42090	0.948000	0.59901	7.137000	0.77295	1.239000	0.43787	0.655000	0.94253	TGC	ZC3H3	-	smart_Znf_CCCH	ENSG00000014164		0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	-	0	62	0	C	NM_015117		144550431	-1	tier1	-	no_errors	ENST00000262577	ensembl	human	known	74_37	missense	30.00	56	24	SNP	1.000	A	A	144550431	C	A	144550431	3	1	54	1	0	0	0	0	1	0	0	0	17617	710	25	3	743	3	ZC3H3	8	144550431	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	36831736	144550431	1813591	169	13463											
DOCK8	81704	genome.wustl.edu	37	chr9	325713	325713	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttgccagcattgccctCtacgatgttaaagaaaggaa	12	11	9	9	1	1	1	0	0	1	1	1	3	1	2	2	1	4	3	2	1	5	4	rs201244929		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:325713C>A	ENST00000453981.1	+	8	982	c.870C>A	c.(868-870)ctC>ctA	p.L290L	DOCK8_ENST00000469391.1_Silent_p.L222L|DOCK8_ENST00000432829.2_Silent_p.L222L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	290					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCATTGCCCTCTACGATGTTA	0.343																																																	0													145	145	145					9																	325713		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.870C>A	9.37:g.325713C>A			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L290	ENST00000453981.1	37	c.870	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.343	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0	67	0	C	XM_036307		325713	1	tier1	-	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.994	A	A	325713	C	A	325713	2	1	54	1	0	0	0	0	0	0	0	1	4707	900	32	3		3	DOCK8	9	325713	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		325713	140887718	170	13464											
RLN1	6013	genome.wustl.edu	37	chr9	5335515	5335515	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagatagggctgccttCagctccggtggcaaattagc	8	10	11	12	1	2	1	2	0	1	1	4	1	3	1	2	3	3	3	2	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:5335515C>A	ENST00000223862.1	-	2	420	c.294G>T	c.(292-294)ctG>ctT	p.L98L	RLN1_ENST00000223858.4_3'UTR|RLN1_ENST00000487557.2_5'UTR	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	98					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GGGCTGCCTTCAGCTCCGGTG	0.363																																																	0													93	90	91					9																	5335515		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"Endogenous ligands"	10026	protein-coding gene	gene with protein product	"prorelaxin H1"	179730	"relaxin 1 (H1)"				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.294G>T	9.37:g.5335515C>A			Q99936|Q9UQJ1	Silent	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.L98	ENST00000223862.1	37	c.294	CCDS6462.1	9																																																																																			RLN1	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin	ENSG00000107018		0.363	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	HGNC	protein_coding	OTTHUMT00000051617.1	-	0	98	0	C			5335515	-1	tier1	-	no_errors	ENST00000223862	ensembl	human	known	74_37	silent	22.39	52	15	SNP	0.000	A	A	5335515	C	A	5335515	2	1	54	1	0	0	0	0	0	0	0	1	13436	813	29	3		3	RLN1	9	5335515	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	5009802	5335515	135877916	171	13465											
DIRAS2	54769	genome.wustl.edu	37	chr9	93376008	93376008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgtcgggatgtagctCtcccggaatgtgcctttcac	6	11	10	14	3	2	0	1	0	1	0	5	2	3	2	4	2	2	2	4	2	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:93376008C>A	ENST00000375765.3	-	2	490	c.102G>T	c.(100-102)gaG>gaT	p.E34D		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	34					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						GGATGTAGCTCTCCCGGAATG	0.572																																																	0													179	156	164					9																	93376008		2203	4300	6503	SO:0001583	missense	0			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.102G>T	9.37:g.93376008C>A	ENSP00000364919:p.Glu34Asp		B3KVM2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E34D	ENST00000375765.3	37	c.102	CCDS6687.1	9	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997604	0.35226	.	.	ENSG00000165023	ENST00000375765	T	0.78364	-1.17	5.06	4.16	0.48862	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	L	0.37800	1.135	0.58432	D	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.57665	-0.7772	10	0.18276	T	0.48	.	9.5208	0.39133	0.0:0.84:0.0:0.16	.	34	Q96HU8	DIRA2_HUMAN	D	34	ENSP00000364919:E34D	ENSP00000364919:E34D	E	-	3	2	DIRAS2	92415828	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.029000	0.41098	1.514000	0.48869	-0.150000	0.13652	GAG	DIRAS2	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000165023		0.572	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS2	HGNC	protein_coding	OTTHUMT00000053012.1	-	0	49	0	C			93376008	-1	tier1	-	no_errors	ENST00000375765	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A	A	93376008	C	A	93376008	3	1	54	1	0	0	0	0	1	0	0	0	4545	912	32	3	501	3	DIRAS2	9	93376008	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	88040493	93376008	47837423	172	13466											
NINJ1	4814	genome.wustl.edu	37	chr9	95888728	95888728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccccacgccgatctgcaGcacaagggagatggagatga	12	4	12	13	2	1	3	0	1	1	2	1	6	1	3	3	2	2	2	3	2	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:95888728G>T	ENST00000375446.4	-	2	338	c.268C>A	c.(268-270)Ctg>Atg	p.L90M	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	90					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CCGATCTGCAGCACAAGGGAG	0.647																																																	0													99	86	90					9																	95888728		2203	4300	6503	SO:0001583	missense	0			U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"nerve injury-induced protein-1"	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.268C>A	9.37:g.95888728G>T	ENSP00000364595:p.Leu90Met		Q6GU89|Q8WUV5|Q9BT07	Missense_Mutation	SNP	pfam_Ninjurin	p.L90M	ENST00000375446.4	37	c.268	CCDS6703.1	9	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358818	0.41801	.	.	ENSG00000131669	ENST00000375446	T	0.58358	0.34	4.49	4.49	0.54785	.	0.068417	0.64402	D	0.000014	T	0.55577	0.1929	L	0.45698	1.435	0.45378	D	0.998361	D	0.63880	0.993	P	0.54856	0.762	T	0.55509	-0.8130	10	0.49607	T	0.09	-24.0325	9.9873	0.41849	0.0945:0.0:0.9055:0.0	.	90	Q92982	NINJ1_HUMAN	M	90	ENSP00000364595:L90M	ENSP00000364595:L90M	L	-	1	2	NINJ1	94928549	1.000000	0.71417	0.946000	0.38457	0.345000	0.29048	3.101000	0.50283	2.502000	0.84385	0.462000	0.41574	CTG	NINJ1	-	pfam_Ninjurin	ENSG00000131669		0.647	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ1	HGNC	protein_coding	OTTHUMT00000053123.2		0	49	0	G	NM_004148		95888728	-1			no_errors	ENST00000375446	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.969	T	T	95888728	G	T	95888728	3	4	54	1	0	0	0	0	1	0	0	0	10457	962	34	3	198	3	NINJ1	9	95888728	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2512720	95888728	45324703	173	13467											
TAL2	6887	genome.wustl.edu	37	chr9	108424837	108424837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagcagaatgtcaacagCgcctttgccaagctgaggaa	13	6	12	10	1	1	2	1	1	0	1	1	3	1	3	2	2	5	3	2	2	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:108424837C>A	ENST00000334077.3	+	1	100	c.60C>A	c.(58-60)agC>agA	p.S20R		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	20	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)		DNA binding (GO:0003677)										ATGTCAACAGCGCCTTTGCCA	0.507			T	TRB@	T-ALL																																			Dom	yes		9	9q31	6887	T-cell acute lymphocytic leukemia 2		L	0													87	81	83					9																	108424837		2203	4300	6503	SO:0001583	missense	0				CCDS6767.1	9q32	2013-05-21			ENSG00000186051	ENSG00000186051		"Basic helix-loop-helix proteins"	11557	protein-coding gene	gene with protein product		186855				1763056	Standard	NM_005421		Approved	bHLHa19	uc004bct.3	Q16559	OTTHUMG00000020424	ENST00000334077.3:c.60C>A	9.37:g.108424837C>A	ENSP00000334547:p.Ser20Arg		A0AVI7	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S20R	ENST00000334077.3	37	c.60	CCDS6767.1	9	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457417	0.26161	.	.	ENSG00000186051	ENST00000334077	D	0.98207	-4.79	5.52	-9.38	0.00623	Helix-loop-helix DNA-binding (5);	0.221867	0.52532	N	0.000069	D	0.93341	0.7877	N	0.13352	0.335	0.24132	N	0.995761	P	0.39759	0.687	B	0.39805	0.31	D	0.83686	0.0174	10	0.51188	T	0.08	-2.8939	18.1553	0.89689	0.0:0.5422:0.0:0.4578	.	20	Q16559	TAL2_HUMAN	R	20	ENSP00000334547:S20R	ENSP00000334547:S20R	S	+	3	2	TAL2	107464658	0.000000	0.05858	0.643000	0.29450	0.758000	0.43043	-5.379000	0.00127	-1.717000	0.01385	-1.876000	0.00548	AGC	TAL2	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000186051		0.507	TAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAL2	HGNC	protein_coding	OTTHUMT00000053504.1	-	0	25	0	C	NM_005421		108424837	1	tier1	-	no_errors	ENST00000334077	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.113	A	A	108424837	C	A	108424837	3	1	54	1	0	0	0	0	1	0	0	0	15589	767	27	2	62	2	TAL2	9	108424837	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	12536109	108424837	32788594	174	13468											
PTPN3	5774	genome.wustl.edu	37	chr9	112172566	112172566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccctttggtcaccctgtgGaagtcatctaagagctgctg	7	11	10	13	0	3	1	2	0	1	1	3	2	3	2	3	2	2	2	3	2	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:112172566G>T	ENST00000374541.2	-	15	1547	c.1443C>A	c.(1441-1443)ttC>ttA	p.F481L	PTPN3_ENST00000412145.1_Missense_Mutation_p.F350L|PTPN3_ENST00000262539.3_Missense_Mutation_p.F327L|PTPN3_ENST00000394827.3_5'UTR|PTPN3_ENST00000446349.1_Missense_Mutation_p.F305L	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	481					negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCACCCTGTGGAAGTCATCTA	0.587																																																	0													90	95	93					9																	112172566		2203	4300	6503	SO:0001583	missense	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1443C>A	9.37:g.112172566G>T	ENSP00000363667:p.Phe481Leu		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.F481L	ENST00000374541.2	37	c.1443	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955908	0.34471	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000262539	T;T;T;T	0.69435	-0.27;-0.28;-0.4;-0.22	5.67	3.48	0.39840	.	0.670897	0.15576	N	0.255176	T	0.38506	0.1043	N	0.08118	0	0.80722	D	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.12837	0.008;0.001;0.007	T	0.17048	-1.0382	10	0.11485	T	0.65	.	4.6915	0.12783	0.208:0.2159:0.5761:0.0	.	327;436;481	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	L	481;350;305;481;327	ENSP00000416654:F350L;ENSP00000395384:F305L;ENSP00000363667:F481L;ENSP00000262539:F327L	ENSP00000262539:F327L	F	-	3	2	PTPN3	111212387	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	1.053000	0.30442	1.381000	0.46364	0.563000	0.77884	TTC	PTPN3	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4	ENSG00000070159		0.587	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4	-	0	58	0	G			112172566	-1	tier1	-	no_errors	ENST00000374541	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.997	T	T	112172566	G	T	112172566	3	4	54	1	0	0	0	0	1	0	0	0	12834	1165	41	3	1346	3	PTPN3	9	112172566	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3747729	112172566	29040865	175	13469											
LRSAM1	90678	genome.wustl.edu	37	chr9	130230083	130230083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgtggtgccggcactgCggccatcttgcagttcctct	3	12	14	12	2	2	0	0	0	2	0	3	0	3	0	3	4	3	3	3	4	0	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:130230083C>T	ENST00000323301.4	+	9	1197	c.593C>T	c.(592-594)gCg>gTg	p.A198V	LRSAM1_ENST00000300417.6_Missense_Mutation_p.A198V|LRSAM1_ENST00000373322.1_Missense_Mutation_p.A198V|LRSAM1_ENST00000373324.4_Missense_Mutation_p.A198V	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	198					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCCGGCACTGCGGCCATCTTG	0.627																																																	0													66	50	56					9																	130230083		2203	4300	6503	SO:0001583	missense	0			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"Sterile alpha motif (SAM) domain containing"	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.593C>T	9.37:g.130230083C>T	ENSP00000322937:p.Ala198Val		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.A198V	ENST00000323301.4	37	c.593	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	C	8.841	0.942252	0.18281	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.33654	1.43;1.4;1.43;1.43	5.46	2.09	0.27110	Insulin-like (1);	0.266951	0.41712	D	0.000823	T	0.22205	0.0535	N	0.22421	0.69	0.09310	N	1	B;B	0.29766	0.209;0.256	B;B	0.25987	0.065;0.029	T	0.12192	-1.0557	10	0.22706	T	0.39	-0.044	12.4897	0.55893	0.2919:0.7081:0.0:0.0	.	198;198	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	V	198	ENSP00000300417:A198V;ENSP00000362421:A198V;ENSP00000322937:A198V;ENSP00000362419:A198V	ENSP00000300417:A198V	A	+	2	0	LRSAM1	129269904	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.197000	0.17197	0.154000	0.19237	0.561000	0.74099	GCG	LRSAM1	-	NULL	ENSG00000148356		0.627	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	-	0	31	0	C	NM_138361		130230083	1	tier1	-	no_errors	ENST00000300417	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.000	T	T	130230083	C	T	130230083	3	4	54	1	0	0	0	0	1	0	0	0	9078	768	27	1	623	1	LRSAM1	9	130230083	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	18057517	130230083	10983348	176	13470											
NAIF1	203245	genome.wustl.edu	37	chr9	130829111	130829111	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcgcctcaccaccctcCacggcggcccggacctgggc	4	3	12	22	5	1	0	1	0	0	0	2	1	2	1	7	5	0	0	7	5	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:130829111C>A	ENST00000373078.4	-	1	489	c.270G>T	c.(268-270)gtG>gtT	p.V90V	SLC25A25_ENST00000373069.5_5'Flank|SLC25A25_ENST00000373068.2_5'Flank|NAIF1_ENST00000488519.1_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	90					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACCACCCTCCACGGCGGCCC	0.706																																																	0													36	38	38					9																	130829111		2200	4300	6500	SO:0001819	synonymous_variant	0			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.270G>T	9.37:g.130829111C>A			B3KV81|Q8WU12	Silent	SNP	NULL	p.V90	ENST00000373078.4	37	c.270	CCDS6889.1	9																																																																																			NAIF1	-	NULL	ENSG00000171169		0.706	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	-	0	55	0	C	NM_197956		130829111	-1	tier1	-	no_errors	ENST00000373078	ensembl	human	known	74_37	silent	28.26	33	13	SNP	1.000	A	A	130829111	C	A	130829111	2	1	54	1	0	0	0	0	0	0	0	1	10184	581	21	3		3	NAIF1	9	130829111	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	599028	130829111	10384320	177	13471											
KIAA0649	9858	genome.wustl.edu	37	chr9	138377387	138377387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaggagcgccagcgctgCaaggaggggaaagcgagtca	14	2	16	9	3	1	0	1	0	0	0	1	4	1	3	1	4	4	2	1	4	4	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:138377387C>T	ENST00000356818.2	+	4	1580	c.1031C>T	c.(1030-1032)gCa>gTa	p.A344V	PPP1R26_ENST00000605660.1_Missense_Mutation_p.A344V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A344V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A344V|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A344V|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	344					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCCAGCGCTGCAAGGAGGGGA	0.627																																																	0													54	62	59					9																	138377387		2203	4300	6503	SO:0001583	missense	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1031C>T	9.37:g.138377387C>T	ENSP00000349274:p.Ala344Val		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.A344V	ENST00000356818.2	37	c.1031	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552821	0.27739	.	.	ENSG00000196422	ENST00000356818	T	0.10477	2.87	5.36	-0.543	0.11851	.	1.338270	0.04977	N	0.464915	T	0.07098	0.0180	N	0.22421	0.69	0.09310	N	1	B	0.21147	0.052	B	0.18561	0.022	T	0.40664	-0.9551	10	0.19590	T	0.45	-4.0138	5.4801	0.16719	0.0874:0.417:0.3794:0.1163	.	344	Q5T8A7	PPR26_HUMAN	V	344	ENSP00000349274:A344V	ENSP00000349274:A344V	A	+	2	0	KIAA0649	137517208	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.808000	0.27154	0.222000	0.20900	0.655000	0.94253	GCA	PPP1R26	-	NULL	ENSG00000196422		0.627	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0	73	0	C	NM_014811		138377387	1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	missense	27.63	55	21	SNP	0.000	T	T	138377387	C	T	138377387	3	4	54	1	0	0	0	0	1	0	0	0	8214	710	25	3	1033	3	KIAA0649	9	138377387	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7548276	138377387	2836044	178	13472											
KIAA0649	9858	genome.wustl.edu	37	chr9	138378132	138378132	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagacccactgctgggctgCaaaaggaagcgtagaggtgg	11	5	15	10	1	0	2	0	0	0	2	0	3	0	3	2	4	3	4	2	4	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:138378132C>A	ENST00000356818.2	+	4	2325	c.1776C>A	c.(1774-1776)tgC>tgA	p.C592*	PPP1R26_ENST00000605660.1_Nonsense_Mutation_p.C592*|PPP1R26_ENST00000605286.1_Nonsense_Mutation_p.C592*|PPP1R26_ENST00000604351.1_Nonsense_Mutation_p.C592*|PPP1R26_ENST00000401470.3_Nonsense_Mutation_p.C592*|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	592					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGCTGGGCTGCAAAAGGAAGC	0.617																																																	0													49	54	53					9																	138378132		2203	4299	6502	SO:0001587	stop_gained	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1776C>A	9.37:g.138378132C>A	ENSP00000349274:p.Cys592*		Q86WU0|Q8WVV0|Q9Y4D3	Nonsense_Mutation	SNP	NULL	p.C592*	ENST00000356818.2	37	c.1776	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.220482	0.98712	.	.	ENSG00000196422	ENST00000356818	.	.	.	5.55	3.72	0.42706	.	0.520882	0.21834	N	0.068424	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-13.0469	5.0014	0.14266	0.0:0.5531:0.1441:0.3027	.	.	.	.	X	592	.	ENSP00000349274:C592X	C	+	3	2	KIAA0649	137517953	0.969000	0.33509	0.467000	0.27180	0.021000	0.10359	0.299000	0.19138	0.706000	0.31912	-0.258000	0.10820	TGC	PPP1R26	-	NULL	ENSG00000196422		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0	37	0	C	NM_014811		138378132	1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	nonsense	21.88	25	7	SNP	0.780	A	A	138378132	C	A	138378132	4	1	54	1	0	0	0	0	0	1	0	0	8214	718	25	3	1778	3	KIAA0649	9	138378132	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	745	138378132	2835299	179	13473											
EXD3	54932	genome.wustl.edu	37	chr9	140201422	140201422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagaagggactgctggccgGgctgggggctgggctcggct	4	7	20	10	2	1	1	1	0	0	1	2	2	1	2	1	7	1	5	1	7	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr9:140201422G>T	ENST00000340951.4	-	22	2806	c.2611C>A	c.(2611-2613)Ccg>Acg	p.P871T	EXD3_ENST00000342129.4_Missense_Mutation_p.P509T	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CTGCTGGCCGGGCTGGGGGCT	0.652																																																	0													17	21	19					9																	140201422		1914	4092	6006	SO:0001583	missense	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2611C>A	9.37:g.140201422G>T	ENSP00000340474:p.Pro871Thr		Q6P1M1|Q8IXT8	Missense_Mutation	SNP	pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.P871T	ENST00000340951.4	37	c.2611	CCDS48066.1	9	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662684	0.29515	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.70045	-0.45;0.14	3.07	-1.47	0.08772	.	.	.	.	.	T	0.46927	0.1418	L	0.29908	0.895	0.09310	N	1	B;B	0.21606	0.058;0.035	B;B	0.14023	0.01;0.007	T	0.39563	-0.9608	9	0.87932	D	0	.	2.4157	0.04436	0.2686:0.0:0.3185:0.4129	.	509;871	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	T	509;871	ENSP00000343705:P509T;ENSP00000340474:P871T	ENSP00000340474:P871T	P	-	1	0	EXD3	139321243	0.002000	0.14202	0.000000	0.03702	0.050000	0.14768	1.029000	0.30140	-0.177000	0.10690	0.561000	0.74099	CCG	EXD3	-	NULL	ENSG00000187609		0.652	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	-	0	65	0	G	NM_017820		140201422	-1	tier1	-	no_errors	ENST00000340951	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.000	T	T	140201422	G	T	140201422	3	4	54	1	0	0	0	0	1	0	0	0	5315	1232	43	3	23	3	EXD3	9	140201422	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1823290	140201422	1012009	180	13474											
FAM171A1	221061	genome.wustl.edu	37	chr10	15256581	15256581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttttctgtggtgctgacGaggtttcaagcacttcctcc	6	14	10	11	1	2	1	1	1	1	0	4	2	4	1	2	2	2	4	2	2	1	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:15256581G>A	ENST00000378116.4	-	8	1012	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	336						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGGTGCTGACGAGGTTTCAAG	0.458																																																	0													55	53	54					10																	15256581		2203	4300	6503	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1006C>T	10.37:g.15256581G>A	ENSP00000367356:p.Arg336Cys		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.R336C	ENST00000378116.4	37	c.1006	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529961	0.45073	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.36157	1.27	4.96	4.96	0.65561	.	0.056917	0.64402	D	0.000001	T	0.62085	0.2399	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.66512	-0.5905	10	0.87932	D	0	-19.3892	18.4116	0.90554	0.0:0.0:1.0:0.0	.	336	Q5VUB5	F1711_HUMAN	C	336;337	ENSP00000367356:R336C	ENSP00000367356:R336C	R	-	1	0	FAM171A1	15296587	1.000000	0.71417	0.975000	0.42487	0.540000	0.34992	7.726000	0.84824	2.564000	0.86499	0.563000	0.77884	CGT	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.458	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	-	0	46	0	G	XM_167709		15256581	-1	tier1	-	no_errors	ENST00000378116	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.997	A	A	15256581	G	A	15256581	3	1	54	1	0	0	0	0	1	0	0	0	5509	1058	37	1	1670	1	FAM171A1	10	15256581	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		15256581	120278166	181	13475											
MYO3A	53904	genome.wustl.edu	37	chr10	26315325	26315325	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttgactaaagattatGaaaagcgtccaacagtgtca	14	10	10	7	1	1	3	1	2	0	1	2	3	2	3	1	1	3	1	1	1	6	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:26315325G>T	ENST00000265944.5	+	10	983	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	MYO3A_ENST00000543632.1_Nonsense_Mutation_p.E273*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	273	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAAAGATTATGAAAAGCGTCC	0.318																																																	0													78	76	77					10																	26315325		2203	4300	6503	SO:0001587	stop_gained	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.817G>T	10.37:g.26315325G>T	ENSP00000265944:p.Glu273*		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.E273*	ENST00000265944.5	37	c.817	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	40	8.016973	0.98613	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	.	.	.	5.76	5.76	0.90799	.	0.089006	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5043	0.90892	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	ENSP00000265944:E273X	E	+	1	0	MYO3A	26355331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.919000	0.92770	2.882000	0.98803	0.655000	0.94253	GAA	MYO3A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000095777		0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0	56	0	G	NM_017433		26315325	1	tier1	-	no_errors	ENST00000265944	ensembl	human	known	74_37	nonsense	27.03	27	10	SNP	1.000	T	T	26315325	G	T	26315325	4	4	54	1	0	0	0	0	0	1	0	0	10114	1291	45	3	847	3	MYO3A	10	26315325	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	11058744	26315325	109219422	182	13476											
YME1L1	10730	genome.wustl.edu	37	chr10	27408224	27408224	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaaggaaacctaccCattagaattttgtctttgga	17	11	7	6	0	1	2	0	0	1	2	1	4	1	4	2	2	2	0	2	2	7	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:27408224C>A	ENST00000326799.3	-	15	1885	c.1737G>T	c.(1735-1737)atG>atT	p.M579I	YME1L1_ENST00000376016.3_Splice_Site_p.M522I|YME1L1_ENST00000375972.3_Splice_Site_p.M489I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	579					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAAACCTACCCATTAGAATTT	0.363																																																	0													105	113	110					10																	27408224		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"ATPases / AAA-type"	12843	protein-coding gene	gene with protein product		607472	"YME1 (S.cerevisiae)-like 1", "YME1-like 1 (S. cerevisiae)"			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1738+1G>T	10.37:g.27408224C>A			B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.M579I	ENST00000326799.3	37	c.1737	CCDS7152.1	10	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921463	0.92249	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	D;D;D	0.83163	-1.69;-1.69;-1.69	5.34	5.34	0.76211	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.035410	0.85682	D	0.000000	D	0.90584	0.7048	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	0.969;1.0;0.988	D;D;D	0.80764	0.968;0.994;0.934	D	0.91143	0.4947	10	0.87932	D	0	-10.6842	19.419	0.94713	0.0:1.0:0.0:0.0	.	489;522;579	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	I	522;579;579;489;325	ENSP00000365184:M522I;ENSP00000318480:M579I;ENSP00000365139:M489I	ENSP00000318480:M579I	M	-	3	0	YME1L1	27448230	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.734000	0.84928	2.658000	0.90341	0.655000	0.94253	ATG	YME1L1	-	pfam_Peptidase_M41,tigrfam_FtsH	ENSG00000136758		0.363	YME1L1-005	KNOWN	basic|CCDS	protein_coding	YME1L1	HGNC	protein_coding	OTTHUMT00000047306.1	-	0	37	0	C	NM_139312	Missense_Mutation	27408224	-1	tier1	-	no_errors	ENST00000326799	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	A	A	27408224	C	A	27408224	5	1	54	1	0	0	0	0	0	0	1	0	17536	608	21	3	608	3	YME1L1	10	27408224	Splice_Site	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1092899	27408224	108126523	183	13477											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37419184	37419184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctgatagattctggtGccgatataaatctcgtagat	12	15	8	6	2	3	3	0	1	3	2	4	4	3	3	1	1	1	1	1	1	6	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:37419184G>A	ENST00000602533.1	+	3	319	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A74T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A74T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	130					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGATTCTGGTGCCGATATAAA	0.388																																																	0													86	76	79					10																	37419184		1861	4109	5970	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.220G>A	10.37:g.37419184G>A	ENSP00000473551:p.Ala74Thr		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A74T	ENST00000602533.1	37	c.220		10	.	.	.	.	.	.	.	.	.	.	.	16.69	3.192967	0.58017	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.71341	-0.56;-0.56	2.0	2.0	0.26442	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.82226	0.4991	M	0.86178	2.8	0.34373	D	0.692268	D	0.69078	0.997	D	0.77004	0.989	D	0.84799	0.0783	9	0.62326	D	0.03	.	7.4605	0.27291	0.0:0.0:1.0:0.0	.	130	Q9BXX3	AN30A_HUMAN	T	74	ENSP00000354432:A74T;ENSP00000363792:A74T	ENSP00000354432:A74T	A	+	1	0	ANKRD30A	37459190	1.000000	0.71417	0.097000	0.21041	0.019000	0.09904	6.070000	0.71220	1.110000	0.41699	0.281000	0.19383	GCC	ANKRD30A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148513		0.388	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	94	0	G	NM_052997		37419184	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	34.88	27	15	SNP	0.977	A	A	37419184	G	A	37419184	3	1	54	1	0	0	0	0	1	0	0	0	658	1319	46	3	230	3	ANKRD30A	10	37419184	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	10010960	37419184	98115563	184	13478											
NRG3	10718	genome.wustl.edu	37	chr10	84733598	84733598	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagaaaatgatggagtcaAgttttgtcggcccccagtca	11	10	12	8	1	2	2	2	1	0	1	3	4	2	3	2	3	0	1	2	3	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:84733598A>C	ENST00000404547.1	+	7	1339	c.1339A>C	c.(1339-1341)Agt>Cgt	p.S447R	NRG3_ENST00000372142.2_Missense_Mutation_p.S226R|NRG3_ENST00000556918.1_Missense_Mutation_p.S277R|NRG3_ENST00000545131.1_Missense_Mutation_p.S97R|NRG3_ENST00000372141.2_Missense_Mutation_p.S447R|NRG3_ENST00000537893.1_Missense_Mutation_p.S97R|NRG3_ENST00000404576.2_Missense_Mutation_p.S251R			P56975	NRG3_HUMAN	neuregulin 3	447					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GATGGAGTCAAGTTTTGTCGG	0.483																																																	0													134	113	120					10																	84733598		2203	4300	6503	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1339A>C	10.37:g.84733598A>C	ENSP00000384796:p.Ser447Arg		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.S447R	ENST00000404547.1	37	c.1339	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472103	0.84533	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.61742	0.8;1.09;0.08;0.08;0.08;0.08;0.08	6.06	6.06	0.98353	.	0.256570	0.33670	N	0.004677	T	0.73560	0.3602	M	0.62723	1.935	0.45580	D	0.998525	D;D;D;D	0.89917	0.996;1.0;0.992;0.996	D;D;P;D	0.85130	0.918;0.997;0.866;0.918	T	0.76027	-0.3109	10	0.87932	D	0	-39.1954	14.5765	0.68252	1.0:0.0:0.0:0.0	.	446;447;226;447	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	R	447;447;446;226;251;277;97;97	ENSP00000361214:S447R;ENSP00000384796:S447R;ENSP00000361215:S226R;ENSP00000385804:S251R;ENSP00000451376:S277R;ENSP00000441201:S97R;ENSP00000440377:S97R	ENSP00000361214:S447R	S	+	1	0	NRG3	84723578	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.021000	0.70832	2.323000	0.78572	0.528000	0.53228	AGT	NRG3	-	NULL	ENSG00000185737		0.483	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	-	0	48	0	A	XM_166086		84733598	1	tier1	-	no_errors	ENST00000404547	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	C	C	84733598	A	C	84733598	3	2	54	1	0	0	0	0	1	0	0	0	10688	72	3	4	1533	4	NRG3	10	84733598	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	47314414	84733598	50801149	185	13479											
GRID1	2894	genome.wustl.edu	37	chr10	87484364	87484364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgaatagtccatgtaccGcttgctgaagtccacaacgc	11	9	8	13	2	0	2	0	2	0	0	2	2	2	2	3	0	3	3	3	0	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:87484364G>A	ENST00000327946.7	-	11	1688	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	GRID1_ENST00000536331.1_Missense_Mutation_p.R106W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	535					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R535W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCCATGTACCGCTTGCTGAAG	0.507										Multiple Myeloma(13;0.14)																																							1	Substitution - Missense(1)	large_intestine(1)											78	74	76					10																	87484364		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1603C>T	10.37:g.87484364G>A	ENSP00000330148:p.Arg535Trp		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R535W	ENST00000327946.7	37	c.1603	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.147142	0.94603	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.27557	1.66;1.66	5.83	5.83	0.93111	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	L	0.61387	1.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54951	-0.8216	10	0.72032	D	0.01	.	19.0851	0.93200	0.0:0.0:1.0:0.0	.	535	Q9ULK0	GRID1_HUMAN	W	535;106	ENSP00000330148:R535W;ENSP00000444455:R106W	ENSP00000330148:R535W	R	-	1	2	GRID1	87474344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.741000	0.93983	0.650000	0.86243	CGG	GRID1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.507	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3		0	16	0	G	XM_043613		87484364	-1			no_errors	ENST00000327946	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A	A	87484364	G	A	87484364	3	1	54	1	0	0	0	0	1	0	0	0	6798	1086	38	1	1450	1	GRID1	10	87484364	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2750766	87484364	48050383	186	13480											
SORBS1	10580	genome.wustl.edu	37	chr10	97101351	97101351	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcgtgggaagattcccacCcggccgtggtgttctccttc	4	11	13	13	3	1	1	0	0	1	1	4	2	2	2	4	3	1	1	4	3	1	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:97101351C>A	ENST00000361941.3	-	25	2540	c.2514G>T	c.(2512-2514)cgG>cgT	p.R838R	SORBS1_ENST00000277982.5_Silent_p.R860R|SORBS1_ENST00000371239.1_Silent_p.R615R|SORBS1_ENST00000371241.1_Silent_p.R488R|SORBS1_ENST00000347291.4_Silent_p.R650R|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Silent_p.R620R|SORBS1_ENST00000371246.2_Silent_p.R860R|SORBS1_ENST00000371247.2_Silent_p.R838R|SORBS1_ENST00000371245.3_Silent_p.R689R|SORBS1_ENST00000371227.4_Silent_p.R792R|SORBS1_ENST00000393949.1_Silent_p.R808R|SORBS1_ENST00000354106.3_Silent_p.R808R|SORBS1_ENST00000306402.6_Silent_p.R585R|SORBS1_ENST00000353505.5_Silent_p.R689R|SORBS1_ENST00000607232.1_Silent_p.R1098R	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGATTCCCACCCGGCCGTGGT	0.468																																																	0													98	98	98					10																	97101351		2203	4300	6503	SO:0001819	synonymous_variant	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2514G>T	10.37:g.97101351C>A				Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.R1098	ENST00000361941.3	37	c.3294	CCDS31255.1	10																																																																																			SORBS1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000095637		0.468	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0	45	0	C			97101351	-1	tier1	-	no_errors	ENST00000607232	ensembl	human	known	74_37	silent	36.00	16	9	SNP	0.997	A	A	97101351	C	A	97101351	2	1	54	1	0	0	0	0	0	0	0	1	14972	610	22	3		3	SORBS1	10	97101351	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	9616987	97101351	38433396	187	13481											
C10orf28	27291	genome.wustl.edu	37	chr10	99968528	99968528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttggagatactatatgaGtttcctagagtttttagttc	9	19	9	4	0	0	3	0	1	0	2	2	4	1	3	1	1	1	4	1	1	5	11			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:99968528G>T	ENST00000298999.3	+	5	960	c.657G>T	c.(655-657)gaG>gaT	p.E219D	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.E219D|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	219							nucleotide binding (GO:0000166)	p.E219E(1)									TACTATATGAGTTTCCTAGAG	0.363																																																	1	Substitution - coding silent(1)	large_intestine(1)											57	60	59					10																	99968528		2203	4300	6503	SO:0001583	missense	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.657G>T	10.37:g.99968528G>T	ENSP00000298999:p.Glu219Asp		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.E219D	ENST00000298999.3	37	c.657	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130440	0.01756	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.06608	3.28;3.28	5.42	1.42	0.22433	.	0.840638	0.10317	N	0.689171	T	0.04952	0.0133	L	0.29908	0.895	0.41717	D	0.989483	B;B	0.28258	0.205;0.205	B;B	0.23419	0.046;0.046	T	0.41645	-0.9497	9	.	.	.	-0.2234	8.1715	0.31258	0.3344:0.0:0.6656:0.0	.	219;219	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	D	219	ENSP00000359616:E219D;ENSP00000298999:E219D	.	E	+	3	2	C10orf28	99958518	0.987000	0.35691	0.227000	0.23927	0.072000	0.16883	0.906000	0.28517	0.002000	0.14630	0.655000	0.94253	GAG	R3HCC1L	-	NULL	ENSG00000166024		0.363	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1		0	91	0	G	NM_014472		99968528	1			no_errors	ENST00000370584	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.641	T	T	99968528	G	T	99968528	3	4	54	1	0	0	0	0	1	0	0	0	1606	1020	36	3	659	3	C10orf28	10	99968528	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2867177	99968528	35566219	188	13482											
CASP7	840	genome.wustl.edu	37	chr10	115457341	115457341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctaagccagaccggtcctCgtttgtaccgtccctcttca	6	12	8	15	3	2	1	1	0	1	1	5	1	4	1	5	1	3	3	5	1	2	4	rs555949483		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:115457341C>T	ENST00000345633.4	+	3	473	c.89C>T	c.(88-90)tCg>tTg	p.S30L	CASP7_ENST00000369321.2_Missense_Mutation_p.S63L|CASP7_ENST00000369315.1_Missense_Mutation_p.S30L|CASP7_ENST00000369318.3_Missense_Mutation_p.S30L|CASP7_ENST00000369331.4_Missense_Mutation_p.S30L	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	30					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GACCGGTCCTCGTTTGTACCG	0.552													C|||	1	0.000199681	8e-04	0	5008	,	,		19602	0		0	False		,,,				2504	0																0													196	160	172					10																	115457341		2203	4300	6503	SO:0001583	missense	0			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"Caspases"	1508	protein-coding gene	gene with protein product		601761	"caspase 7, apoptosis-related cysteine protease"			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.89C>T	10.37:g.115457341C>T	ENSP00000298701:p.Ser30Leu		B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.S63L	ENST00000345633.4	37	c.188	CCDS7581.1	10	.	.	.	.	.	.	.	.	.	.	C	9.884	1.202292	0.22121	.	.	ENSG00000165806	ENST00000429617;ENST00000369331;ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369319;ENST00000369316;ENST00000369315	T;T;T;T;T;T	0.07444	3.85;3.19;4.44;4.47;4.47;4.47	4.49	4.49	0.54785	.	1.201650	0.05524	N	0.562667	T	0.10121	0.0248	L	0.57536	1.79	0.80722	D	1	P;B;P	0.48162	0.625;0.226;0.906	B;B;B	0.33454	0.034;0.028;0.164	T	0.47018	-0.9149	10	0.24483	T	0.36	.	12.8756	0.57988	0.0:1.0:0.0:0.0	.	63;30;30	P55210-3;P55210;P55210-2	.;CASP7_HUMAN;.	L	30;30;63;30;30;30;30;30;30	ENSP00000400094:S30L;ENSP00000358337:S30L;ENSP00000358327:S63L;ENSP00000298701:S30L;ENSP00000358324:S30L;ENSP00000358321:S30L	ENSP00000298701:S30L	S	+	2	0	CASP7	115447331	0.004000	0.15560	0.810000	0.32431	0.127000	0.20565	1.030000	0.30153	2.486000	0.83907	0.650000	0.86243	TCG	CASP7	-	NULL	ENSG00000165806		0.552	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP7	HGNC	protein_coding	OTTHUMT00000050439.1	-	0	124	0	C	NM_033338		115457341	1	tier1	-	no_errors	ENST00000369321	ensembl	human	known	74_37	missense	30.23	60	26	SNP	0.830	T	T	115457341	C	T	115457341	3	4	54	1	0	0	0	0	1	0	0	0	2683	893	31	1	194	1	CASP7	10	115457341	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	15488813	115457341	20077406	189	13483											
PSTK	118672	genome.wustl.edu	37	chr10	124742964	124742964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcctcacaattccgagtCcagcatgtgcttcggaggcc	9	8	10	14	2	1	0	1	0	0	0	4	2	3	1	4	2	3	2	4	2	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:124742964C>A	ENST00000368887.3	+	3	1125	c.685C>A	c.(685-687)Cca>Aca	p.P229T	PSTK_ENST00000405485.1_Missense_Mutation_p.P229T|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	229					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AATTCCGAGTCCAGCATGTGC	0.517																																																	0													71	74	73					10																	124742964		2203	4300	6503	SO:0001583	missense	0			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"chromosome 10 open reading frame 89"	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.685C>A	10.37:g.124742964C>A	ENSP00000357882:p.Pro229Thr		Q6ZSS9	Missense_Mutation	SNP	pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,tigrfam_L-seryl-tRNA_Sec_kinase_euk	p.P229T	ENST00000368887.3	37	c.685	CCDS7633.1	10	.	.	.	.	.	.	.	.	.	.	C	1.384	-0.582680	0.03827	.	.	ENSG00000179988	ENST00000368887;ENST00000405485	T;T	0.42900	1.09;0.96	6.04	-1.39	0.08997	.	0.956526	0.08732	N	0.901914	T	0.17959	0.0431	N	0.13043	0.29	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.25398	-1.0133	10	0.12103	T	0.63	-8.9023	1.0642	0.01607	0.4407:0.2074:0.1115:0.2405	.	229	Q8IV42	PSTK_HUMAN	T	229	ENSP00000357882:P229T;ENSP00000384764:P229T	ENSP00000357882:P229T	P	+	1	0	PSTK	124732954	0.000000	0.05858	0.051000	0.19133	0.155000	0.21991	-1.519000	0.02243	0.049000	0.15920	0.563000	0.77884	CCA	PSTK	-	pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk	ENSG00000179988		0.517	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTK	HGNC	protein_coding	OTTHUMT00000050811.1	-	0	45	0	C	NM_153336		124742964	1	tier1	-	no_errors	ENST00000368887	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.018	A	A	124742964	C	A	124742964	3	1	54	1	0	0	0	0	1	0	0	0	12762	855	30	3	695	3	PSTK	10	124742964	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	9285623	124742964	10791783	190	13484											
METTL10	399818	genome.wustl.edu	37	chr10	126454174	126454174	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagattcaaaaagtcttCtacctatattaaaagtcaat	17	12	6	6	0	4	1	2	0	2	1	4	3	4	2	1	1	1	0	1	1	8	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:126454174C>A	ENST00000368836.2	-	5	439	c.403G>T	c.(403-405)Gaa>Taa	p.E135*	RP11-12J10.3_ENST00000494792.1_Nonstop_Mutation_p.*99Y|Y_RNA_ENST00000362596.1_RNA	NM_212554.2	NP_997719.2	Q5JPI9	MET10_HUMAN	methyltransferase like 10	135							methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_lung(145;0.0186)|Lung NSC(174;0.0295)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.101)|COAD - Colon adenocarcinoma(40;0.111)		AAAAAGTCTTCTACCTATATT	0.333																																																	0													42	42	42					10																	126454174		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31307.1	10q26.13	2010-01-15			ENSG00000203791	ENSG00000203791			33787	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 138"	C10orf138			Standard	NM_212554		Approved	Em:AC068896.3	uc001lhy.1	Q5JPI9	OTTHUMG00000019217	ENST00000368836.2:c.403G>T	10.37:g.126454174C>A	ENSP00000357829:p.Glu135*		A8MPY7	Nonsense_Mutation	SNP	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase	p.E135*	ENST00000368836.2	37	c.403	CCDS31307.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.475480	0.96291	.	.	ENSG00000203791	ENST00000368836;ENST00000358960	.	.	.	5.69	5.69	0.88448	.	0.120124	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-16.7725	13.0634	0.59020	0.0:0.9267:0.0:0.0733	.	.	.	.	X	135	.	ENSP00000351845:E135X	E	-	1	0	METTL10	126444164	0.772000	0.28567	0.996000	0.52242	0.969000	0.65631	1.145000	0.31577	2.688000	0.91661	0.460000	0.39030	GAA	METTL10	-	pfam_Methyltransf_11,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_(Gua-N-7)_MeTrfase	ENSG00000203791		0.333	METTL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL10	HGNC	protein_coding	OTTHUMT00000050884.1	-	0	38	0	C	NM_212554		126454174	-1	tier1	-	no_errors	ENST00000368836	ensembl	human	known	74_37	nonsense	37.04	17	10	SNP	0.996	A	A	126454174	C	A	126454174	4	1	54	1	0	0	0	0	0	1	0	0	9532	922	32	3	484	3	METTL10	10	126454174	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1711210	126454174	9080573	191	13485											
KNDC1	85442	genome.wustl.edu	37	chr10	135025060	135025060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggaagctagaggactTcatctcctccaaggtgacag	10	8	13	10	0	2	2	1	1	1	1	4	4	3	4	2	4	1	2	2	4	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr10:135025060T>A	ENST00000304613.3	+	22	4064	c.4043T>A	c.(4042-4044)tTc>tAc	p.F1348Y	KNDC1_ENST00000368572.2_Missense_Mutation_p.F1350Y			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1348	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTAGAGGACTTCATCTCCTCC	0.672																																																	0													87	90	89					10																	135025060		2203	4300	6503	SO:0001583	missense	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4043T>A	10.37:g.135025060T>A	ENSP00000304437:p.Phe1348Tyr		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F1350Y	ENST00000304613.3	37	c.4049	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	T	8.418	0.845765	0.16963	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.59224	0.28;0.28	3.96	2.79	0.32731	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.255488	0.38897	U	0.001538	T	0.46619	0.1402	L	0.53249	1.67	0.24527	N	0.994134	B	0.18461	0.028	B	0.21917	0.037	T	0.43294	-0.9400	10	0.49607	T	0.09	-10.0047	3.3495	0.07147	0.2156:0.1134:0.0:0.6709	.	1348	Q76NI1	VKIND_HUMAN	Y	1348;1350	ENSP00000304437:F1348Y;ENSP00000357561:F1350Y	ENSP00000304437:F1348Y	F	+	2	0	KNDC1	134875050	1.000000	0.71417	0.235000	0.24058	0.338000	0.28826	3.259000	0.51515	0.492000	0.27815	0.247000	0.18012	TTC	KNDC1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000171798		0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0	39	0	T	NM_152643		135025060	1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.324	A	A	135025060	T	A	135025060	3	1	54	1	0	0	0	0	1	0	0	0	8453	1783	62	5	4129	5	KNDC1	10	135025060	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	8570886	135025060	509687	192	13486											
OR51G1	79324	genome.wustl.edu	37	chr11	4944765	4944765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacaacgcggggcagatGttcaccaaagcgatgcacaa	13	6	12	10	3	1	1	1	0	0	1	1	2	1	1	1	2	4	4	1	2	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:4944765G>T	ENST00000321961.2	-	1	872	c.805C>A	c.(805-807)Cat>Aat	p.H269N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGGGCAGATGTTCACCAAAG	0.502																																																	0													202	162	175					11																	4944765		2201	4298	6499	SO:0001583	missense	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.805C>A	11.37:g.4944765G>T	ENSP00000322546:p.His269Asn		B9EGW8|Q6IFH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H269N	ENST00000321961.2	37	c.805	CCDS31366.1	11	.	.	.	.	.	.	.	.	.	.	G	8.361	0.833173	0.16820	.	.	ENSG00000176879	ENST00000321961	T	0.00099	8.73	4.53	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.191615	0.25538	U	0.029982	T	0.00144	0.0004	N	0.25485	0.75	0.09310	N	1	B	0.31611	0.331	B	0.41723	0.365	T	0.25328	-1.0135	10	0.54805	T	0.06	.	10.3648	0.44017	0.0:0.0:0.5285:0.4715	.	269	Q8NGK1	O51G1_HUMAN	N	269	ENSP00000322546:H269N	ENSP00000322546:H269N	H	-	1	0	OR51G1	4901341	0.000000	0.05858	0.995000	0.50966	0.168000	0.22595	-1.088000	0.03379	1.082000	0.41137	0.557000	0.71058	CAT	OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176879		0.502	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0	69	0	G	NM_001005237		4944765	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.013	T	T	4944765	G	T	4944765	3	4	54	1	0	0	0	0	1	0	0	0	11137	1377	48	3	162	3	OR51G1	11	4944765	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		4944765	130061751	193	13487											
OR52D1	390066	genome.wustl.edu	37	chr11	5510671	5510671	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctctgagtacctgtggCtcccacattggcatcatcct	9	11	8	13	0	2	1	1	1	1	0	4	1	4	1	3	2	2	4	3	2	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:5510671C>A	ENST00000322641.5	+	1	757	c.735C>A	c.(733-735)ggC>ggA	p.G245G	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTACCTGTGGCTCCCACATTG	0.498																																																	0													200	177	184					11																	5510671		2201	4297	6498	SO:0001819	synonymous_variant	0			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.735C>A	11.37:g.5510671C>A			B9EGY9|Q6IFI6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G245	ENST00000322641.5	37	c.735	CCDS31384.1	11																																																																																			OR52D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181609		0.498	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52D1	HGNC	protein_coding	OTTHUMT00000143372.1	-	0	80	0	C	NM_001005163		5510671	1	tier1	-	no_errors	ENST00000322641	ensembl	human	known	74_37	silent	32.31	44	21	SNP	0.715	A	A	5510671	C	A	5510671	2	1	54	1	0	0	0	0	0	0	0	1	11153	784	28	3		3	OR52D1	11	5510671	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	565906	5510671	129495845	194	13488											
OVCH2	341277	genome.wustl.edu	37	chr11	7718030	7718030	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaatgggtctgtcttctaAagaatacattgacaggtaac	14	11	8	8	0	3	2	0	1	3	1	3	2	3	2	1	2	2	1	1	2	6	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:7718030A>G	ENST00000533663.1	-	0	0				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CTGTCTTCTAAAGAATACATT	0.453																																																	0													88	85	86					11																	7718030		1925	4120	6045			0			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7718030A>G				Silent	SNP	pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L375	ENST00000533663.1	37	c.1123		11																																																																																			OVCH2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183378		0.453	OVCH2-002	KNOWN	basic	processed_transcript	OVCH2	HGNC	polymorphic_pseudogene	OTTHUMT00000383928.1	-	0	34	0	A	NM_198185		7718030	-1	tier1	-	no_errors	ENST00000454689	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.995	G	G	7718030	A	G	7718030	1	3	54	0	1	0	0	0	0	0	0	0	11363	11	1	4		4	OVCH2	11	7718030	RNA	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	2207359	7718030	127288486	195	13489											
DENND5A	23258	genome.wustl.edu	37	chr11	9202321	9202321	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacatcttaccttttccAggctcaccccagttctcttg	8	14	4	15	0	3	0	1	0	2	0	5	0	4	0	4	1	2	2	4	1	2	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:9202321A>G	ENST00000328194.3	-	6	1768	c.1448T>C	c.(1447-1449)cTg>cCg	p.L483P	DENND5A_ENST00000530044.1_Missense_Mutation_p.L483P|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	483					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACCTTTTCCAGGCTCACCCC	0.498																																																	0													123	129	127					11																	9202321		2201	4296	6497	SO:0001583	missense	0			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"DENN/MADD domain containing"	19344	protein-coding gene	gene with protein product			"RAB6 interacting protein 1"	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1448T>C	11.37:g.9202321A>G	ENSP00000328524:p.Leu483Pro		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.L483P	ENST00000328194.3	37	c.1448	CCDS31423.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943858	0.73672	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.53423	0.62;0.62	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.55337	0.1914	L	0.51422	1.61	0.80722	D	1	P;P	0.50819	0.828;0.939	B;P	0.52598	0.37;0.703	T	0.59322	-0.7476	10	0.66056	D	0.02	-8.7017	15.3602	0.74469	1.0:0.0:0.0:0.0	.	483;483	E9PS91;Q6IQ26	.;DEN5A_HUMAN	P	483	ENSP00000328524:L483P;ENSP00000435866:L483P	ENSP00000328524:L483P	L	-	2	0	DENND5A	9158897	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.910000	0.92685	2.083000	0.62718	0.455000	0.32223	CTG	DENND5A	-	NULL	ENSG00000184014		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5A	HGNC	protein_coding	OTTHUMT00000385910.2		0	51	0	A	NM_015213		9202321	-1			no_errors	ENST00000328194	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	G	G	9202321	A	G	9202321	3	3	54	1	0	0	0	0	1	0	0	0	4450	188	7	4	2487	4	DENND5A	11	9202321	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	1484291	9202321	125804195	196	13490											
MICAL2	9645	genome.wustl.edu	37	chr11	12261023	12261024	+	Frame_Shift_Ins	INS	-	-	TT																															agcttgggctccaatcaagaINSgtgtgggagcagtaaggaag																										TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:12261023_12261024insTT	ENST00000256194.4	+	17	2393_2394	c.2105_2106insTT	c.(2104-2109)gagtgtfs	p.E702fs	MICAL2_ENST00000379612.3_Frame_Shift_Ins_p.E702fs|MICAL2_ENST00000342902.5_Frame_Shift_Ins_p.E702fs|MICAL2_ENST00000537344.1_Frame_Shift_Ins_p.E702fs|MICAL2_ENST00000527546.1_Frame_Shift_Ins_p.E702fs	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	702					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCCAATCAAGAGTGTGGGAGCA	0.5																																																	0																																										SO:0001589	frameshift_variant	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	Exception_encountered	11.37:g.12261023_12261024insTT	ENSP00000256194:p.Glu702fs		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Frame_Shift_Ins	INS	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E702fs	ENST00000256194.4	37	c.2105_2106	CCDS7809.1	11																																																																																			MICAL2	-	NULL	ENSG00000133816		0.5	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0	71	0	-	NM_014632		12261024	1	tier1		no_errors	ENST00000256194	ensembl	human	known	74_37	frame_shift_ins	23.81	32	10	INS	0.609:0.116	TT	TT	12261024	-	TT	12261023	7	5	54	1	0	1	1	0	0	0	0	0	9608	304	11	0	2163	0	MICAL2	11	12261023	Frame_Shift_Ins	INS	-	TCGA-L5-A4OE-01A-11D-A27G-09	3058702	12261023	122745493	197	13491											
NAV2	89797	genome.wustl.edu	37	chr11	19954795	19954795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttccttggagagcggcagCagctccacccctactaattg	8	9	10	14	1	0	1	0	0	0	1	2	2	2	1	4	2	4	4	4	2	2	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:19954795C>A	ENST00000396087.3	+	8	1173	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	NAV2_ENST00000527559.2_Missense_Mutation_p.S287R|NAV2_ENST00000360655.4_Missense_Mutation_p.S271R|NAV2_ENST00000540292.1_Missense_Mutation_p.S289R|NAV2_ENST00000396085.1_Missense_Mutation_p.S335R|NAV2_ENST00000349880.4_Missense_Mutation_p.S335R	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	358					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGAGCGGCAGCAGCTCCACCC	0.607																																																	0													140	142	142					11																	19954795		2199	4293	6492	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1074C>A	11.37:g.19954795C>A	ENSP00000379396:p.Ser358Arg		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S358R	ENST00000396087.3	37	c.1074	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	7.218	0.596789	0.13875	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.30448	1.53;1.64;1.64;1.64;1.53;1.54	5.36	3.49	0.39957	.	0.423880	0.24635	N	0.036855	T	0.30448	0.0765	L	0.46157	1.445	0.28343	N	0.92127	B;B	0.28400	0.122;0.21	B;B	0.37422	0.043;0.249	T	0.21075	-1.0256	9	.	.	.	.	10.6721	0.45764	0.0:0.8428:0.0:0.1572	.	335;271	Q8IVL1-3;Q8IVL1-4	.;.	R	271;335;335;358;287;289	ENSP00000353871:S271R;ENSP00000379394:S335R;ENSP00000309577:S335R;ENSP00000379396:S358R;ENSP00000435395:S287R;ENSP00000443489:S289R	.	S	+	3	2	NAV2	19911371	0.955000	0.32602	0.003000	0.11579	0.063000	0.16089	2.166000	0.42406	0.643000	0.30638	0.650000	0.86243	AGC	NAV2	-	NULL	ENSG00000166833		0.607	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	66	0	C	NM_145117		19954795	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.176	A	A	19954795	C	A	19954795	3	1	54	1	0	0	0	0	1	0	0	0	10222	709	25	3	1110	3	NAV2	11	19954795	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7693772	19954795	115051721	198	13492											
NAV2	89797	genome.wustl.edu	37	chr11	20072880	20072880	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcctaagaaaggactcagGtatctgtgtttcctccttgc	8	14	9	10	0	2	1	1	0	1	1	4	2	4	2	3	2	2	2	3	2	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:20072880G>T	ENST00000396087.3	+	18	4649		c.e18+1		NAV2_ENST00000533917.1_Splice_Site|NAV2_ENST00000311043.8_Splice_Site|NAV2_ENST00000527559.2_Splice_Site|NAV2_ENST00000360655.4_Splice_Site|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Splice_Site|NAV2_ENST00000396085.1_Splice_Site|NAV2_ENST00000349880.4_Splice_Site	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGGACTCAGGTATCTGTGTT	0.498																																																	0													241	189	206					11																	20072880		2203	4300	6503	SO:0001630	splice_region_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4550+1G>T	11.37:g.20072880G>T			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Splice_Site	SNP	-	e18+1	ENST00000396087.3	37	c.4550+1	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541963	0.85917	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV2	20029456	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.143000	0.94623	2.789000	0.95967	0.591000	0.81541	.	NAV2	-	-	ENSG00000166833		0.498	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1		0	95	0	G	NM_145117	Intron	20072880	1			no_errors	ENST00000396087	ensembl	human	known	74_37	splice_site	5.06	75	4	SNP	1.000	T	T	20072880	G	T	20072880	5	4	54	1	0	0	0	0	0	0	1	0	10222	1275	44	3	4657	3	NAV2	11	20072880	Splice_Site	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	118085	20072880	114933636	199	13493											
CAPRIN1	4076	genome.wustl.edu	37	chr11	34119305	34119305	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaccacggggagccccaCgaggtaatattttgtggtgg	8	9	16	8	2	0	0	0	0	0	0	0	3	0	2	3	6	1	1	3	6	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:34119305C>T	ENST00000341394.4	+	18	2251	c.2062C>T	c.(2062-2064)Cga>Tga	p.R688*	CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.R688*|CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.R607*|CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.R688*|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.R688*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	688					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGGAGCCCCACGAGGTAATAT	0.443																																																	0													94	95	94					11																	34119305		2202	4298	6500	SO:0001587	stop_gained	0			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"cytoplasmic activation/proliferation-associated protein-1"	601178	"membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1"	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.2062C>T	11.37:g.34119305C>T	ENSP00000340329:p.Arg688*		A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Nonsense_Mutation	SNP	pfam_Caprin-1_C	p.R688*	ENST00000341394.4	37	c.2062	CCDS31453.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.667559	0.98422	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	.	.	.	5.36	4.36	0.52297	.	0.566231	0.18527	N	0.138597	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.3788	0.83431	0.2082:0.7918:0.0:0.0	.	.	.	.	X	688;688;688;688;607	.	ENSP00000340329:R688X	R	+	1	2	CAPRIN1	34075881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.338000	0.43957	2.486000	0.83907	0.563000	0.77884	CGA	CAPRIN1	-	NULL	ENSG00000135387		0.443	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	-	0	49	0	C	NM_005898		34119305	1	tier1	-	no_errors	ENST00000341394	ensembl	human	known	74_37	nonsense	18.92	30	7	SNP	1.000	T	T	34119305	C	T	34119305	4	4	54	1	0	0	0	0	0	1	0	0	2642	528	19	1	2128	1	CAPRIN1	11	34119305	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	14046425	34119305	100887211	200	13494											
CHST1	8534	genome.wustl.edu	37	chr11	45671280	45671280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctccaccaggctgacCgaggggttcttcagctcctc	5	9	10	17	2	2	1	1	1	1	0	6	2	5	1	5	3	1	4	5	3	0	2	rs549323787	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:45671280C>T	ENST00000308064.2	-	4	1864	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	398					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCAGGCTGACCGAGGGGTTCT	0.662													C|||	8	0.00159744	0	0	5008	,	,		14335	0		0	False		,,,				2504	0.0082																0													41	46	44					11																	45671280		2203	4295	6498	SO:0001819	synonymous_variant	0			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1194G>A	11.37:g.45671280C>T			D3DQP2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.S398	ENST00000308064.2	37	c.1194	CCDS7913.1	11																																																																																			CHST1	-	pirsf_Carbohydrate_sulfotransferase	ENSG00000175264		0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	-	0	82	0	C	NM_003654		45671280	-1	tier1	-	no_errors	ENST00000308064	ensembl	human	known	74_37	silent	29.11	56	23	SNP	0.316	T	T	45671280	C	T	45671280	2	4	54	1	0	0	0	0	0	0	0	1	3404	639	23	1		1	CHST1	11	45671280	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	11551975	45671280	89335236	201	13495											
MAPK8IP1	9479	genome.wustl.edu	37	chr11	45924519	45924519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctgcggccgtgcttcGgagactacagtgacgagagt	8	8	15	10	4	0	4	0	2	0	2	1	6	0	4	2	2	4	1	2	2	1	2	rs368904071		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:45924519G>A	ENST00000241014.2	+	5	1371	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R	RP11-618K13.2_ENST00000533218.1_RNA|MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.G391R	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	401	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.G401*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCGTGCTTCGGAGACTACAG	0.592																																																	1	Substitution - Nonsense(1)	lung(1)						G	ARG/GLY	0,4406		0,0,2203	49	39	42		1201	3.7	1	11		42	1,8595	1.2+/-3.3	0,1,4297	no	missense	MAPK8IP1	NM_005456.3	125	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	401/712	45924519	1,13001	2203	4298	6501	SO:0001583	missense	0				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1201G>A	11.37:g.45924519G>A	ENSP00000241014:p.Gly401Arg		D3DQP4|O43407	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain	p.G401R	ENST00000241014.2	37	c.1201	CCDS7916.1	11	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621883	0.28889	0.0	1.16E-4	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.22134	1.97;1.97	4.69	3.73	0.42828	Src homology-3 domain (1);	0.416377	0.27151	N	0.020691	T	0.11580	0.0282	N	0.08118	0	0.09310	N	0.999998	B	0.22746	0.074	B	0.10450	0.005	T	0.24621	-1.0155	10	0.62326	D	0.03	-8.3699	13.3664	0.60687	0.0:0.0:0.7527:0.2473	.	401	Q9UQF2	JIP1_HUMAN	R	401;391	ENSP00000241014:G401R;ENSP00000378991:G391R	ENSP00000241014:G401R	G	+	1	0	MAPK8IP1	45881095	0.926000	0.31397	0.997000	0.53966	0.952000	0.60782	0.801000	0.27055	2.448000	0.82819	0.561000	0.74099	GGA	MAPK8IP1	-	superfamily_SH3_domain	ENSG00000121653		0.592	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP1	HGNC	protein_coding	OTTHUMT00000259405.1	-	0	46	0	G	NM_005456		45924519	1	tier1	-	no_errors	ENST00000241014	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.131	A	A	45924519	G	A	45924519	3	1	54	1	0	0	0	0	1	0	0	0	9322	1117	39	1	1219	1	MAPK8IP1	11	45924519	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	253239	45924519	89081997	202	13496											
AMBRA1	55626	genome.wustl.edu	37	chr11	46563773	46563773	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggggacctgccaagaGgaactagcctcgccagagga	11	4	15	11	1	0	2	0	0	0	2	1	6	0	5	4	4	4	1	4	4	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:46563773G>C	ENST00000458649.2	-	7	2212	c.1794C>G	c.(1792-1794)tcC>tcG	p.S598S	AMBRA1_ENST00000314845.3_Silent_p.S508S|AMBRA1_ENST00000533727.1_Silent_p.S508S|AMBRA1_ENST00000528950.1_Silent_p.S598S|AMBRA1_ENST00000298834.3_Silent_p.S598S|AMBRA1_ENST00000426438.1_Silent_p.S598S|AMBRA1_ENST00000534300.1_Silent_p.S598S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	598	Ser-rich.				autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCTGCCAAGAGGAACTAGCCT	0.582																																																	0													56	47	50					11																	46563773		2201	4299	6500	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1794C>G	11.37:g.46563773G>C			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S598	ENST00000458649.2	37	c.1794		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.582	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	46	0	G	NM_017749		46563773	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.981	C	C	46563773	G	C	46563773	2	2	54	1	0	0	0	0	0	0	0	1	565	987	35	5		5	AMBRA1	11	46563773	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	639254	46563773	88442743	203	13497											
OR4B1	119765	genome.wustl.edu	37	chr11	48239263	48239263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccataagaagattgtggaGcaaaaaggagaatccaggga	17	5	13	6	1	0	3	0	0	0	3	1	6	1	5	2	3	1	1	2	3	5	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:48239263G>T	ENST00000309562.2	+	1	920	c.902G>T	c.(901-903)aGc>aTc	p.S301I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGATTGTGGAGCAAAAAGGAG	0.418																																																	0													53	54	54					11																	48239263		2201	4298	6499	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.902G>T	11.37:g.48239263G>T	ENSP00000311605:p.Ser301Ile		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S301I	ENST00000309562.2	37	c.902	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029638	0.19512	.	.	ENSG00000175619	ENST00000309562	T	0.38077	1.16	5.29	2.35	0.29111	.	1.495230	0.04457	N	0.373689	T	0.32556	0.0833	L	0.60067	1.865	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20773	-1.0265	10	0.17369	T	0.5	.	3.9965	0.09561	0.2715:0.1805:0.548:0.0	.	301	Q8NGF8	OR4B1_HUMAN	I	301	ENSP00000311605:S301I	ENSP00000311605:S301I	S	+	2	0	OR4B1	48195839	.	.	0.001000	0.08648	0.279000	0.26890	.	.	0.574000	0.29417	0.494000	0.49563	AGC	OR4B1	-	NULL	ENSG00000175619		0.418	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	-	0	47	0	G	NM_001005470		48239263	1	tier1	-	no_errors	ENST00000309562	ensembl	human	known	74_37	missense	11.11	48	6	SNP	0.000	T	T	48239263	G	T	48239263	3	4	54	1	0	0	0	0	1	0	0	0	11083	971	34	3	904	3	OR4B1	11	48239263	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1675490	48239263	86767253	204	13498											
SPRYD5	84767	genome.wustl.edu	37	chr11	55653117	55653117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacactgacatttgtttgaaGaacatggctttcattgccag	12	13	8	8	0	1	3	1	2	0	1	1	3	1	3	1	1	3	2	1	1	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:55653117G>A	ENST00000449290.2	+	2	305	c.213G>A	c.(211-213)aaG>aaA	p.K71K	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	71						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TTTGTTTGAAGAACATGGCTT	0.473																																																	0													30	26	27					11																	55653117		692	1591	2283	SO:0001819	synonymous_variant	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19023	protein-coding gene	gene with protein product			"SPRY domain containing 5"	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.213G>A	11.37:g.55653117G>A			A6NMG2	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K71	ENST00000449290.2	37	c.213		11																																																																																			TRIM51	-	NULL	ENSG00000124900		0.473	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	-	0	179	0	G	NM_032681		55653117	1	tier1	-	no_errors	ENST00000449290	ensembl	human	known	74_37	silent	30.56	100	44	SNP	0.002	A	A	55653117	G	A	55653117	2	1	54	1	0	0	0	0	0	0	0	1	15158	933	33	3		3	SPRYD5	11	55653117	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7413854	55653117	79353399	205	13499											
OR5J2	282775	genome.wustl.edu	37	chr11	55944157	55944157	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggattgacagatcatgctGaactaaaagctgtgcttttt	11	14	10	6	0	1	3	1	2	0	1	1	4	1	4	0	1	4	3	0	1	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:55944157G>T	ENST00000312298.1	+	1	64	c.64G>T	c.(64-66)Gaa>Taa	p.E22*		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					AGATCATGCTGAACTAAAAGC	0.368																																																	0													157	152	154					11																	55944157		2201	4296	6497	SO:0001587	stop_gained	0			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"GPCR / Class A : Olfactory receptors"	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.64G>T	11.37:g.55944157G>T	ENSP00000310788:p.Glu22*		Q6IEU5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.E22*	ENST00000312298.1	37	c.64	CCDS31522.1	11	.	.	.	.	.	.	.	.	.	.	G	9.250	1.040564	0.19669	.	.	ENSG00000174957	ENST00000312298	.	.	.	4.32	3.39	0.38822	.	0.106600	0.40728	N	0.001038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	12.5087	0.55995	0.0:0.169:0.831:0.0	.	.	.	.	X	22	.	ENSP00000310788:E22X	E	+	1	0	OR5J2	55700733	0.004000	0.15560	0.003000	0.11579	0.048000	0.14542	0.934000	0.28910	0.946000	0.37632	0.577000	0.79330	GAA	OR5J2	-	NULL	ENSG00000174957		0.368	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5J2	HGNC	protein_coding	OTTHUMT00000391544.1	-	0	97	0	G	NM_001005492		55944157	1	tier1	-	no_errors	ENST00000312298	ensembl	human	known	74_37	nonsense	22.37	59	17	SNP	0.054	T	T	55944157	G	T	55944157	4	4	54	1	0	0	0	0	0	1	0	0	11204	1291	45	3	66	3	OR5J2	11	55944157	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	291040	55944157	79062359	206	13500											
OR5AR1	219493	genome.wustl.edu	37	chr11	56431989	56431989	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagacaagtgggcctctgtGttctacacggttatcatccc	9	11	9	12	1	3	1	1	0	2	1	4	1	4	1	2	2	1	2	2	2	4	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:56431989G>T	ENST00000302969.2	+	1	852	c.828G>T	c.(826-828)gtG>gtT	p.V276V		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGGCCTCTGTGTTCTACACGG	0.453																																																	0													89	82	85					11																	56431989		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.828G>T	11.37:g.56431989G>T			Q6IF61	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V276	ENST00000302969.2	37	c.828	CCDS31535.1	11																																																																																			OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172459		0.453	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	-	0	47	0	G	NM_001004730		56431989	1	tier1	-	no_errors	ENST00000302969	ensembl	human	known	74_37	silent	32.43	25	12	SNP	1.000	T	T	56431989	G	T	56431989	2	4	54	1	0	0	0	0	0	0	0	1	11184	1364	48	3		3	OR5AR1	11	56431989	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	487832	56431989	78574527	207	13501											
PATL1	219988	genome.wustl.edu	37	chr11	59423058	59423058	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggtggtgtagcggaGggtggagcactaaagaaggc	10	7	20	4	1	0	1	0	0	0	1	0	4	0	4	0	7	2	2	0	7	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:59423058G>T	ENST00000300146.9	-	8	1053	c.969C>A	c.(967-969)ccC>ccA	p.P323P		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	323	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.P323P(1)		central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GTGTAGCGGAGGGTGGAGCAC	0.552																																																	1	Substitution - coding silent(1)	ovary(1)											61	64	63					11																	59423058		1980	4147	6127	SO:0001819	synonymous_variant	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.969C>A	11.37:g.59423058G>T			B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Silent	SNP	pfam_Topo_II-assoc_PAT1	p.P323	ENST00000300146.9	37	c.969	CCDS44613.1	11																																																																																			PATL1	-	pfam_Topo_II-assoc_PAT1	ENSG00000166889		0.552	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	-	0	81	0	G	NM_152716		59423058	-1	tier1	-	no_errors	ENST00000300146	ensembl	human	known	74_37	silent	21.35	70	19	SNP	0.966	T	T	59423058	G	T	59423058	2	4	54	1	0	0	0	0	0	0	0	1	11514	987	35	3		3	PATL1	11	59423058	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2991069	59423058	75583458	208	13502											
MARK2	2011	genome.wustl.edu	37	chr11	63672373	63672373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagccgaagcaccttcCatgctgggcagctccgacag	8	7	11	15	2	0	0	0	0	0	0	3	2	3	0	5	1	4	4	5	1	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:63672373C>A	ENST00000509502.2	+	16	2153	c.1690C>A	c.(1690-1692)Cat>Aat	p.H564N	MARK2_ENST00000315032.8_Missense_Mutation_p.H598N|MARK2_ENST00000350490.7_Missense_Mutation_p.H543N|MARK2_ENST00000502399.3_Missense_Mutation_p.H597N|MARK2_ENST00000413835.2_Missense_Mutation_p.H544N|MARK2_ENST00000408948.3_Missense_Mutation_p.H510N|MARK2_ENST00000361128.5_Missense_Mutation_p.H544N|MARK2_ENST00000425897.2_Missense_Mutation_p.H518N|MARK2_ENST00000377810.3_Missense_Mutation_p.H510N|MARK2_ENST00000508192.1_Missense_Mutation_p.H543N|MARK2_ENST00000377809.4_Missense_Mutation_p.H598N|MARK2_ENST00000402010.2_Missense_Mutation_p.H598N|MARK2_ENST00000513765.2_Missense_Mutation_p.H565N	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGCACCTTCCATGCTGGGCA	0.667																																																	0													64	59	61					11																	63672373		2201	4297	6498	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1690C>A	11.37:g.63672373C>A	ENSP00000423974:p.His564Asn			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H598N	ENST00000509502.2	37	c.1792	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	c	12.55	1.970250	0.34754	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	4.51	2.63	0.31362	.	0.061560	0.64402	D	0.000005	T	0.63212	0.2492	M	0.71581	2.175	0.44417	D	0.997331	B;D;B;P;D;D	0.71674	0.058;0.998;0.318;0.557;0.993;0.989	B;D;B;B;P;D	0.74674	0.029;0.984;0.343;0.215;0.889;0.948	T	0.63769	-0.6562	10	0.62326	D	0.03	.	10.0802	0.42384	0.0:0.8309:0.0:0.1691	.	518;564;543;544;598;543	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	N	598;598;598;544;510;543;544;543;599;564;565;510;518	ENSP00000385751:H598N;ENSP00000326632:H598N;ENSP00000367040:H598N;ENSP00000389184:H544N;ENSP00000367041:H510N;ENSP00000425765:H543N;ENSP00000355091:H544N;ENSP00000294247:H543N;ENSP00000423974:H564N;ENSP00000421075:H565N;ENSP00000386128:H510N;ENSP00000415494:H518N	ENSP00000326632:H598N	H	+	1	0	MARK2	63428949	1.000000	0.71417	0.972000	0.41901	0.003000	0.03518	7.624000	0.83124	0.647000	0.30713	-0.267000	0.10333	CAT	MARK2	-	NULL	ENSG00000072518		0.667	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	-	0	51	0	C	NM_017490		63672373	1	tier1	-	no_errors	ENST00000402010	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	A	A	63672373	C	A	63672373	3	1	54	1	0	0	0	0	1	0	0	0	9351	594	21	3	1854	3	MARK2	11	63672373	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	4249315	63672373	71334143	209	13503											
SYVN1	84447	genome.wustl.edu	37	chr11	64896048	64896048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctacctggaggcctttcCatttcaggggctggtgggga	6	10	14	11	0	1	0	1	0	0	0	2	2	2	2	4	7	1	1	4	7	1	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:64896048C>A	ENST00000377190.3	-	15	1828	c.1734G>T	c.(1732-1734)atG>atT	p.M578I	SYVN1_ENST00000307289.6_Missense_Mutation_p.M526I|SYVN1_ENST00000294256.8_Missense_Mutation_p.M577I|SYVN1_ENST00000526060.1_Missense_Mutation_p.M577I|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	578					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GAGGCCTTTCCATTTCAGGGG	0.607																																																	0													48	57	54					11																	64896048		2201	4297	6498	SO:0001583	missense	0			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1734G>T	11.37:g.64896048C>A	ENSP00000366395:p.Met578Ile		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.M578I	ENST00000377190.3	37	c.1734	CCDS31605.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.800|2.800	-0.249380|-0.249380	0.05867|0.05867	.|.	.|.	ENSG00000162298|ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000307289;ENST00000526060|ENST00000434219	T;T;T;T|.	0.08720|.	3.06;3.06;3.23;3.06|.	4.73|4.73	-9.46|-9.46	0.00597|0.00597	.|.	0.917957|.	0.09309|.	N|.	0.819793|.	T|T	0.11707|0.11707	0.0285|0.0285	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.09377|.	0.004;0.004;0.002|.	T|T	0.18085|0.18085	-1.0348|-1.0348	10|6	0.34782|0.35671	T|T	0.22|0.21	-0.1072|-0.1072	0.3962|0.3962	0.00418|0.00418	0.1907:0.2275:0.2402:0.3416|0.1907:0.2275:0.2402:0.3416	.|.	526;577;578|.	Q86TM6-2;Q86TM6-3;Q86TM6|.	.;.;SYVN1_HUMAN|.	I|L	578;577;526;577|578	ENSP00000366395:M578I;ENSP00000294256:M577I;ENSP00000302035:M526I;ENSP00000436984:M577I|.	ENSP00000294256:M577I|ENSP00000412962:W578L	M|W	-|-	3|2	0|0	SYVN1|SYVN1	64652624|64652624	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.043000|0.043000	0.13939|0.13939	-0.706000|-0.706000	0.05047|0.05047	-1.638000|-1.638000	0.01529|0.01529	-1.127000|-1.127000	0.01993|0.01993	ATG|TGG	SYVN1	-	NULL	ENSG00000162298		0.607	SYVN1-001	KNOWN	basic|CCDS	protein_coding	SYVN1	HGNC	protein_coding	OTTHUMT00000385274.1	-	0	101	0	C	NM_032431		64896048	-1	tier1	-	no_errors	ENST00000377190	ensembl	human	known	74_37	missense	6.25	75	5	SNP	0.000	A	A	64896048	C	A	64896048	3	1	54	1	0	0	0	0	1	0	0	0	15534	594	21	3	127	3	SYVN1	11	64896048	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1223675	64896048	70110468	210	13504											
PCNXL3	399909	genome.wustl.edu	37	chr11	65404426	65404426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagagcccggcagcccagCccctgctggaacaccagtac	9	4	12	16	1	0	1	0	1	0	1	0	3	0	2	5	2	6	3	5	2	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:65404426C>A	ENST00000355703.3	+	35	6621	c.6082C>A	c.(6082-6084)Ccc>Acc	p.P2028T	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000527525.1_5'Flank|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	2028						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGCAGCCCAGCCCCTGCTGGA	0.632																																																	0													14	17	16					11																	65404426		1971	4132	6103	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.6082C>A	11.37:g.65404426C>A	ENSP00000347931:p.Pro2028Thr		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.P2028T	ENST00000355703.3	37	c.6082	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673538	0.47781	.	.	ENSG00000197136	ENST00000355703	T	0.08720	3.06	5.17	5.17	0.71159	.	0.000000	0.40385	N	0.001107	T	0.13841	0.0335	L	0.27053	0.805	0.35510	D	0.80051	D;P	0.55172	0.97;0.948	P;B	0.56127	0.792;0.431	T	0.07177	-1.0786	10	0.87932	D	0	.	14.1497	0.65375	0.0:1.0:0.0:0.0	.	915;2028	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	T	2028	ENSP00000347931:P2028T	ENSP00000347931:P2028T	P	+	1	0	PCNXL3	65161002	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	3.116000	0.50399	2.416000	0.81992	0.462000	0.41574	CCC	PCNXL3	-	NULL	ENSG00000197136		0.632	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	31	0	C	NM_032223		65404426	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	50.00	11	11	SNP	1.000	A	A	65404426	C	A	65404426	3	1	54	1	0	0	0	0	1	0	0	0	11632	739	26	3	6220	3	PCNXL3	11	65404426	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	508378	65404426	69602090	211	13505											
EFEMP2	30008	genome.wustl.edu	37	chr11	65638797	65638797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcacttcatttccccCttgcaggcctcagggatggt	6	13	10	12	0	2	1	2	1	0	0	3	2	3	2	3	3	2	2	3	3	0	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:65638797C>T	ENST00000307998.6	-	4	428	c.198G>A	c.(196-198)aaG>aaA	p.K66K	EFEMP2_ENST00000528176.1_Silent_p.K66K	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	66	EGF-like 1; atypical. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TCATTTCCCCCTTGCAGGCCT	0.657																																																	0													113	123	120					11																	65638797		2201	4296	6497	SO:0001819	synonymous_variant	0			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.198G>A	11.37:g.65638797C>T			A8K7R4|B3KM31|B3KQT1|O75967	Silent	SNP	pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.K66	ENST00000307998.6	37	c.198	CCDS8116.1	11																																																																																			EFEMP2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	ENSG00000172638		0.657	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4	-	0	76	0	C	NM_016938		65638797	-1	tier1	-	no_errors	ENST00000307998	ensembl	human	known	74_37	silent	12.64	76	11	SNP	1.000	T	T	65638797	C	T	65638797	2	4	54	1	0	0	0	0	0	0	0	1	4956	680	24	3		3	EFEMP2	11	65638797	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	234371	65638797	69367719	212	13506											
DHCR7	1717	genome.wustl.edu	37	chr11	71146570	71146570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagaagtagggcagcaGgtggccgccgccacaggcca	10	4	16	11	2	0	1	0	0	0	1	0	2	0	1	4	4	1	4	4	4	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:71146570G>T	ENST00000355527.3	-	9	1555	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M	DHCR7_ENST00000407721.2_Missense_Mutation_p.L427M	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	427					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						TAGGGCAGCAGGTGGCCGCCG	0.677									Smith-Lemli-Opitz syndrome																																								0													24	27	26					11																	71146570		2200	4291	6491	SO:0001583	missense	0	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1279C>A	11.37:g.71146570G>T	ENSP00000347717:p.Leu427Met		B2R6Z2|O60492|O60717	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24	p.L427M	ENST00000355527.3	37	c.1279	CCDS8200.1	11	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511499	0.44660	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000533800	D;D;D	0.98075	-4.7;-4.7;-4.7	5.12	3.11	0.35812	.	0.296620	0.31167	N	0.008123	D	0.96027	0.8706	M	0.84082	2.675	0.43559	D	0.995872	P	0.44946	0.846	B	0.38616	0.277	D	0.93685	0.7002	10	0.39692	T	0.17	-28.126	7.2864	0.26342	0.0915:0.0:0.74:0.1685	.	427	Q9UBM7	DHCR7_HUMAN	M	427;427;177	ENSP00000384739:L427M;ENSP00000347717:L427M;ENSP00000435011:L177M	ENSP00000347717:L427M	L	-	1	2	DHCR7	70824218	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.831000	0.27476	1.155000	0.42497	0.561000	0.74099	CTG	DHCR7	-	pfam_Ergosterol_biosynth_ERG4_ERG24	ENSG00000172893		0.677	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	HGNC	protein_coding	OTTHUMT00000394243.1	-	0	78	0	G	NM_001360		71146570	-1	tier1	-	no_errors	ENST00000355527	ensembl	human	known	74_37	missense	27.84	70	27	SNP	0.996	T	T	71146570	G	T	71146570	3	4	54	1	0	0	0	0	1	0	0	0	4491	991	35	3	152	3	DHCR7	11	71146570	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	5507773	71146570	63859946	213	13507											
LRRC32	2615	genome.wustl.edu	37	chr11	76372027	76372027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggaattcctggagaGgttgagatgggtcaggcggg	8	8	21	4	1	1	3	1	2	0	2	2	6	2	4	1	7	0	1	1	7	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:76372027G>A	ENST00000407242.2	-	3	852	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F	LRRC32_ENST00000260061.5_Missense_Mutation_p.L204F|LRRC32_ENST00000404995.1_Missense_Mutation_p.L204F|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	204					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TTCCTGGAGAGGTTGAGATGG	0.612																																																	0													73	68	70					11																	76372027		2200	4292	6492	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.610C>T	11.37:g.76372027G>A	ENSP00000384126:p.Leu204Phe		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.L204F	ENST00000407242.2	37	c.610	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139870	0.56936	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.74842	-0.88;-0.88;-0.88	4.43	4.43	0.53597	.	0.145674	0.46442	D	0.000291	D	0.86723	0.6001	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89056	0.3459	10	0.87932	D	0	.	17.238	0.87005	0.0:0.0:1.0:0.0	.	204	Q14392	LRC32_HUMAN	F	204	ENSP00000260061:L204F;ENSP00000384126:L204F;ENSP00000385766:L204F	ENSP00000260061:L204F	L	-	1	0	LRRC32	76049675	0.998000	0.40836	0.998000	0.56505	0.604000	0.37047	2.503000	0.45407	2.306000	0.77630	0.462000	0.41574	CTC	LRRC32	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000137507		0.612	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	35	0	G	NM_005512		76372027	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	A	A	76372027	G	A	76372027	3	1	54	1	0	0	0	0	1	0	0	0	9022	1000	35	3	1382	3	LRRC32	11	76372027	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	5225457	76372027	58634489	214	13508											
PRCP	5547	genome.wustl.edu	37	chr11	82611355	82611355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggcaagtgtaggctGccgagggcccttaaggccgg	6	9	17	9	2	0	0	0	0	0	0	0	1	0	0	3	6	1	4	3	6	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:82611355G>T	ENST00000313010.3	-	1	284	c.90C>A	c.(88-90)ggC>ggA	p.G30G	PRCP_ENST00000393399.2_Silent_p.G30G|C11orf82_ENST00000533655.1_5'Flank|PRCP_ENST00000535099.1_Intron|C11orf82_ENST00000525388.1_5'Flank|C11orf82_ENST00000524921.1_5'Flank|C11orf82_ENST00000528759.1_5'Flank|C11orf82_ENST00000430323.2_5'Flank|C11orf82_ENST00000525361.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	30					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTGTAGGCTGCCGAGGGCCC	0.637																																																	0													66	74	71					11																	82611355		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.90C>A	11.37:g.82611355G>T			A8MU24|B2R7B7|B3KRK5|B5BU34	Silent	SNP	pfam_Peptidase_S28	p.G30	ENST00000313010.3	37	c.90	CCDS8262.1	11																																																																																			PRCP	-	NULL	ENSG00000137509		0.637	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	-	0	69	0	G	NM_005040		82611355	-1	tier1	-	no_errors	ENST00000393399	ensembl	human	known	74_37	silent	40.30	40	27	SNP	0.027	T	T	82611355	G	T	82611355	2	4	54	1	0	0	0	0	0	0	0	1	12491	1306	46	3		3	PRCP	11	82611355	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6239328	82611355	52395161	215	13509											
NOX4	50507	genome.wustl.edu	37	chr11	89177378	89177378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagttgagggcattcacCagatgggcagccacatgcac	12	6	13	10	0	1	3	1	1	0	2	1	4	1	3	2	2	2	4	2	2	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:89177378C>T	ENST00000263317.4	-	5	610	c.372G>A	c.(370-372)ctG>ctA	p.L124L	NOX4_ENST00000532825.1_Silent_p.L100L|NOX4_ENST00000424319.1_Silent_p.L100L|NOX4_ENST00000528341.1_Silent_p.L99L|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000534731.1_Silent_p.L124L|NOX4_ENST00000542487.1_Silent_p.L100L|NOX4_ENST00000413594.2_Silent_p.L145L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Silent_p.L100L|NOX4_ENST00000535633.1_Silent_p.L100L|NOX4_ENST00000343727.5_Silent_p.L100L|NOX4_ENST00000525196.1_Silent_p.L124L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	124	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGGCATTCACCAGATGGGCAG	0.468																																																	0													123	104	110					11																	89177378		2201	4299	6500	SO:0001819	synonymous_variant	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.372G>A	11.37:g.89177378C>T			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.L145	ENST00000263317.4	37	c.435	CCDS8285.1	11																																																																																			NOX4	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain	ENSG00000086991		0.468	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	-	0	31	0	C	NM_016931		89177378	-1	tier1	-	no_errors	ENST00000413594	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	T	T	89177378	C	T	89177378	2	4	54	1	0	0	0	0	0	0	0	1	10597	581	21	3		3	NOX4	11	89177378	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6566023	89177378	45829138	216	13510											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103040912	103040912	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcactcaagccatgaagatgGgacttggaggaaatccttat	13	10	10	8	0	2	2	2	1	0	1	3	5	3	5	2	3	1	0	2	3	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:103040912G>T	ENST00000375735.2	+	33	5188	c.5044G>T	c.(5044-5046)Gga>Tga	p.G1682*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.G1682*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1682	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CATGAAGATGGGACTTGGAGG	0.418																																																	0													85	82	83					11																	103040912		1877	4108	5985	SO:0001587	stop_gained	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5044G>T	11.37:g.103040912G>T	ENSP00000364887:p.Gly1682*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G1682*	ENST00000375735.2	37	c.5044	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	45	12.055749	0.99631	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	19.4742	0.94979	0.0:0.0:1.0:0.0	.	.	.	.	X	1682	.	ENSP00000364887:G1682X	G	+	1	0	DYNC2H1	102546122	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.944000	0.87722	2.602000	0.87976	0.585000	0.79938	GGA	DYNC2H1	-	superfamily_P-loop_NTPase	ENSG00000187240		0.418	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	70	0	G	XM_370652		103040912	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	nonsense	26.83	30	11	SNP	1.000	T	T	103040912	G	T	103040912	4	4	54	1	0	0	0	0	0	1	0	0	4860	1233	43	3	5174	3	DYNC2H1	11	103040912	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	13863534	103040912	31965604	217	13511											
POU2AF1	5450	genome.wustl.edu	37	chr11	111229619	111229619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggtatggccgggccgggGctggggcttgctccggagct	2	8	19	12	3	0	0	0	0	0	0	1	1	1	1	4	8	2	5	4	8	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:111229619G>T	ENST00000393067.3	-	2	555	c.41C>A	c.(40-42)gCc>gAc	p.A14D		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	14					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CCGGGCCGGGGCTGGGGCTTG	0.637			T	BCL6	NHL																																			Dom	yes		11	11q23.1	5450	"POU domain, class 2, associating factor 1 (OBF1)"		L	0													48	48	48					11																	111229619		2201	4297	6498	SO:0001583	missense	0				CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"POU domain class 2, associating factor 1"			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.41C>A	11.37:g.111229619G>T	ENSP00000376786:p.Ala14Asp		B2R8Z9|Q14983	Missense_Mutation	SNP	pfam_PD-C2-AF1	p.A14D	ENST00000393067.3	37	c.41	CCDS31675.1	11	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398734	0.62177	.	.	ENSG00000110777	ENST00000393067;ENST00000531398	T;T	0.29655	1.56;1.56	4.47	2.51	0.30379	.	0.232106	0.33553	N	0.004790	T	0.36635	0.0974	L	0.50333	1.59	0.34697	D	0.726323	D	0.59767	0.986	P	0.54815	0.761	T	0.50759	-0.8790	10	0.54805	T	0.06	-2.0841	8.1114	0.30917	0.0883:0.1577:0.7539:0.0	.	14	Q16633	OBF1_HUMAN	D	14;16	ENSP00000376786:A14D;ENSP00000433527:A16D	ENSP00000376786:A14D	A	-	2	0	POU2AF1	110734829	1.000000	0.71417	0.950000	0.38849	0.671000	0.39405	4.057000	0.57455	1.086000	0.41228	0.305000	0.20034	GCC	POU2AF1	-	pfam_PD-C2-AF1	ENSG00000110777		0.637	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU2AF1	HGNC	protein_coding	OTTHUMT00000391002.1	-	0	26	0	G	NM_006235		111229619	-1	tier1	-	no_errors	ENST00000393067	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.994	T	T	111229619	G	T	111229619	3	4	54	1	0	0	0	0	1	0	0	0	12309	1203	42	3	745	3	POU2AF1	11	111229619	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	8188707	111229619	23776897	218	13512											
C11orf63	79864	genome.wustl.edu	37	chr11	122756568	122756568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttcaagatgagtaaacGtaaactaattcccaagctct	15	13	5	8	1	2	2	1	1	1	1	3	2	3	2	1	0	3	3	1	0	7	6	rs200713502	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:122756568G>T	ENST00000531316.1	+	1	103	c.11G>T	c.(10-12)cGt>cTt	p.R4L	C11orf63_ENST00000307257.6_Missense_Mutation_p.R4L|C11orf63_ENST00000227349.2_Missense_Mutation_p.R4L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	4					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ATGAGTAAACGTAAACTAATT	0.398																																																	0													68	71	70					11																	122756568		2202	4299	6501	SO:0001583	missense	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.11G>T	11.37:g.122756568G>T	ENSP00000431669:p.Arg4Leu		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.R4L	ENST00000531316.1	37	c.11	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	4.777	0.144420	0.09134	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.41065	1.01;1.01	5.8	-1.46	0.08800	.	0.701774	0.13617	N	0.374669	T	0.15305	0.0369	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.006;0.022	B;B	0.16289	0.015;0.015	T	0.16958	-1.0385	10	0.18710	T	0.47	0.1311	1.3035	0.02084	0.3528:0.1333:0.3639:0.15	.	4;4	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	L	4	ENSP00000227349:R4L;ENSP00000431669:R4L	ENSP00000227349:R4L	R	+	2	0	C11orf63	122261778	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	-0.198000	0.09505	0.011000	0.14865	0.655000	0.94253	CGT	C11orf63	-	NULL	ENSG00000109944		0.398	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	-	0	47	0	G	NM_024806		122756568	1	tier1	-	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.001	T	T	122756568	G	T	122756568	3	4	54	1	0	0	0	0	1	0	0	0	1659	1145	40	2	13	2	C11orf63	11	122756568	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	11526949	122756568	12249948	219	13513											
KCNJ5	3762	genome.wustl.edu	37	chr11	128781331	128781331	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccacgccagcgctacatgGagaagagtggcaagtgcaac	13	4	13	11	2	0	2	0	0	0	2	0	3	0	2	2	2	5	3	2	2	4	1	rs72544301		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:128781331G>T	ENST00000338350.4	+	3	515	c.163G>T	c.(163-165)Gag>Tag	p.E55*	KCNJ5_ENST00000529694.1_Nonsense_Mutation_p.E55*|KCNJ5_ENST00000533599.1_Nonsense_Mutation_p.E55*			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	55					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GCGCTACATGGAGAAGAGTGG	0.602																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0													112	94	100					11																	128781331		2201	4297	6498	SO:0001587	stop_gained	0			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.163G>T	11.37:g.128781331G>T	ENSP00000339960:p.Glu55*		B2R744|Q6DK13|Q6DK14|Q92807	Nonsense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.E55*	ENST00000338350.4	37	c.163	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815427	0.90790	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	.	.	.	5.34	5.34	0.76211	.	0.094910	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0605	0.93091	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000339960:E55X	E	+	1	0	KCNJ5	128286541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.720000	0.68470	2.505000	0.84491	0.650000	0.86243	GAG	KCNJ5	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000120457		0.602	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	-	0	73	0	G	NM_000890		128781331	1	tier1	-	no_errors	ENST00000529694	ensembl	human	known	74_37	nonsense	16.47	71	14	SNP	1.000	T	T	128781331	G	T	128781331	4	4	54	1	0	0	0	0	0	1	0	0	8081	1175	41	3	165	3	KCNJ5	11	128781331	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6024763	128781331	6225185	220	13514											
OPCML	4978	genome.wustl.edu	37	chr11	132812977	132812977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggaacaggtacccaCagacccccattctcgacagc	12	4	10	15	1	1	1	0	0	1	1	2	3	1	2	3	3	3	2	3	3	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr11:132812977C>T	ENST00000331898.7	-	1	589	c.11G>A	c.(10-12)tGt>tAt	p.C4Y	OPCML_ENST00000524381.1_Intron|OPCML_ENST00000374778.4_Intron|OPCML_ENST00000529038.1_Intron|OPCML_ENST00000541867.1_Missense_Mutation_p.C4Y	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	4					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGGTACCCACAGACCCCCAT	0.677																																																	0													95	87	90					11																	132812977		2201	4297	6498	SO:0001583	missense	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.11G>A	11.37:g.132812977C>T	ENSP00000330862:p.Cys4Tyr		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.C4Y	ENST00000331898.7	37	c.11	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697431	0.48202	.	.	ENSG00000183715	ENST00000331898;ENST00000541867	T;T	0.61859	0.45;0.07	5.47	5.47	0.80525	.	0.335795	0.25981	N	0.027068	T	0.43853	0.1266	N	0.22421	0.69	0.37896	D	0.930866	P;B;B	0.48162	0.906;0.128;0.128	B;B;B	0.34722	0.188;0.048;0.048	T	0.57400	-0.7818	10	0.66056	D	0.02	-4.5335	19.32	0.94234	0.0:1.0:0.0:0.0	.	4;4;4	B7ZLQ1;B7ZLQ0;Q14982	.;.;OPCM_HUMAN	Y	4	ENSP00000330862:C4Y;ENSP00000445496:C4Y	ENSP00000330862:C4Y	C	-	2	0	OPCML	132318187	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.206000	0.58473	2.580000	0.87095	0.561000	0.74099	TGT	OPCML	-	NULL	ENSG00000183715		0.677	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	-	0	141	0	C	NM_001012393		132812977	-1	tier1	-	no_errors	ENST00000541867	ensembl	human	known	74_37	missense	33.10	95	47	SNP	1.000	T	T	132812977	C	T	132812977	3	4	54	1	0	0	0	0	1	0	0	0	10913	478	17	3	1054	3	OPCML	11	132812977	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	4031646	132812977	2193539	221	13515											
FOXM1	2305	genome.wustl.edu	37	chr12	2967850	2967850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagttgatgttgtcagggCccagtgggtcctcgtccagg	6	10	14	11	1	1	1	1	1	0	0	4	1	3	1	4	3	0	2	4	3	0	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:2967850C>A	ENST00000359843.3	-	9	2314	c.2246G>T	c.(2245-2247)gGc>gTc	p.G749V	AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.G787V|ITFG2_ENST00000545509.1_Intron|Y_RNA_ENST00000410561.1_RNA|FOXM1_ENST00000361953.3_Missense_Mutation_p.G734V	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	749					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTTGTCAGGGCCCAGTGGGTC	0.577																																																	0													61	55	57					12																	2967850		2203	4300	6503	SO:0001583	missense	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.2246G>T	12.37:g.2967850C>A	ENSP00000352901:p.Gly749Val		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G787V	ENST00000359843.3	37	c.2360	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582510	0.46006	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.94828	-3.53;-3.5;-3.42	4.72	4.72	0.59763	.	0.342564	0.29522	N	0.011919	D	0.96147	0.8744	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.998;0.999;0.998;0.999	P;D;D;D;D	0.68621	0.856;0.911;0.959;0.911;0.959	D	0.95861	0.8883	10	0.72032	D	0.01	.	10.4457	0.44493	0.0:0.912:0.0:0.0879	.	733;749;734;749;787	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	V	787;734;749	ENSP00000342307:G787V;ENSP00000354492:G734V;ENSP00000352901:G749V	ENSP00000342307:G787V	G	-	2	0	FOXM1	2838111	1.000000	0.71417	0.995000	0.50966	0.453000	0.32348	2.953000	0.49105	2.445000	0.82738	0.561000	0.74099	GGC	FOXM1	-	NULL	ENSG00000111206		0.577	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	-	0	69	0	C	NM_021953		2967850	-1	tier1	-	no_errors	ENST00000342628	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	A	A	2967850	C	A	2967850	3	1	54	1	0	0	0	0	1	0	0	0	6042	739	26	3	49	3	FOXM1	12	2967850	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		2967850	130884045	222	13516											
CD163	9332	genome.wustl.edu	37	chr12	7655084	7655084	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtactcaccaagagaactGgtgacaaaacaggcactgag	17	5	10	9	0	1	3	1	2	0	1	1	4	1	3	1	2	3	2	1	2	6	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:7655084G>T	ENST00000359156.4	-	2	325	c.123C>A	c.(121-123)acC>acA	p.T41T	CD163_ENST00000432237.2_Silent_p.T41T|CD163_ENST00000541972.1_Silent_p.T29T|CD163_ENST00000396620.3_Silent_p.T41T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	41					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAAGAGAactggtgacaaaac	0.403																																																	0													79	71	74					12																	7655084		2202	4300	6502	SO:0001819	synonymous_variant	0			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"CD molecules"	1631	protein-coding gene	gene with protein product		605545	"CD163 antigen"			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.123C>A	12.37:g.7655084G>T			C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	p.T41	ENST00000359156.4	37	c.123	CCDS8578.1	12																																																																																			CD163	-	NULL	ENSG00000177575		0.403	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	-	0	26	0	G	NM_004244, NM_203416		7655084	-1	tier1	-	no_errors	ENST00000359156	ensembl	human	known	74_37	silent	19.23	20	5	SNP	0.001	T	T	7655084	G	T	7655084	2	4	54	1	0	0	0	0	0	0	0	1	2974	1335	47	3		3	CD163	12	7655084	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4687234	7655084	126196811	223	13517											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20854304	20854304	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccaaagcattggcagaagGctatctgaagagcaccatca	14	7	10	10	0	2	3	1	1	1	2	2	3	2	3	2	2	3	4	2	2	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:20854304G>C	ENST00000266509.2	+	3	550	c.182G>C	c.(181-183)gGc>gCc	p.G61A	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G61A|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G61A|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G61A	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	61					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TTGGCAGAAGGCTATCTGAAG	0.423																																																	0													272	207	229					12																	20854304		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.182G>C	12.37:g.20854304G>C	ENSP00000266509:p.Gly61Ala		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G61A	ENST00000266509.2	37	c.182	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	6.431	0.447587	0.12223	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.09	4.18	0.49190	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.046510	0.85682	D	0.000000	T	0.39784	0.1091	N	0.13098	0.295	0.39316	D	0.965152	B;B;B	0.15141	0.009;0.012;0.003	B;B;B	0.20184	0.017;0.007;0.028	T	0.21999	-1.0229	10	0.15066	T	0.55	.	14.9148	0.70789	0.0:0.0:0.8558:0.1442	.	61;61;61	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	A	61	ENSP00000444149:G61A;ENSP00000438665:G61A;ENSP00000266509:G61A;ENSP00000370964:G61A	ENSP00000266509:G61A	G	+	2	0	SLCO1C1	20745571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.305000	0.78891	1.336000	0.45506	0.655000	0.94253	GGC	SLCO1C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.423	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	140	0	G	NM_017435		20854304	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	26.09	85	30	SNP	1.000	C	C	20854304	G	C	20854304	3	2	54	1	0	0	0	0	1	0	0	0	14770	1203	42	5	188	5	SLCO1C1	12	20854304	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	13199220	20854304	112997591	224	13518											
KCNJ8	3764	genome.wustl.edu	37	chr12	21919175	21919175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgttattgctctcgattgGgttatcaacaggaatgtcca	11	14	9	7	1	2	0	1	0	1	0	4	2	3	1	1	2	2	3	1	2	5	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:21919175G>T	ENST00000240662.2	-	3	1102	c.757C>A	c.(757-759)Cca>Aca	p.P253T	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	253					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	CTCTCGATTGGGTTATCAACA	0.493																																																	0													95	89	91					12																	21919175		2203	4300	6503	SO:0001583	missense	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.757C>A	12.37:g.21919175G>T	ENSP00000240662:p.Pro253Thr		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.P253T	ENST00000240662.2	37	c.757	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841133	0.51057	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.93604	-3.25	5.35	5.35	0.76521	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.047528	0.85682	D	0.000000	D	0.92404	0.7589	L	0.50333	1.59	0.50467	D	0.999873	P	0.39044	0.656	B	0.40982	0.345	D	0.92491	0.6000	10	0.56958	D	0.05	.	19.2644	0.93980	0.0:0.0:1.0:0.0	.	253	Q15842	IRK8_HUMAN	T	253	ENSP00000240662:P253T	ENSP00000240662:P253T	P	-	1	0	KCNJ8	21810442	1.000000	0.71417	0.967000	0.41034	0.945000	0.59286	5.936000	0.70153	2.782000	0.95742	0.563000	0.77884	CCA	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000121361		0.493	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	-	0	75	0	G	NM_004982		21919175	-1	tier1	-	no_errors	ENST00000240662	ensembl	human	known	74_37	missense	36.92	41	24	SNP	1.000	T	T	21919175	G	T	21919175	3	4	54	1	0	0	0	0	1	0	0	0	8083	1232	43	3	521	3	KCNJ8	12	21919175	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1064871	21919175	111932720	225	13519											
ABCC9	10060	genome.wustl.edu	37	chr12	21967598	21967598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaatatatcaaccattCtgaagaaagccagagataac	19	8	5	9	0	3	3	2	1	1	2	3	4	3	3	2	0	3	0	2	0	7	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:21967598C>A	ENST00000261201.4	-	33	4081	c.4082G>T	c.(4081-4083)aGa>aTa	p.R1361I	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1325I|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1361I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1361	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ATCAACCATTCTGAAGAAAGC	0.398																																																	0													117	108	111					12																	21967598		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4082G>T	12.37:g.21967598C>A	ENSP00000261201:p.Arg1361Ile		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.R1361I	ENST00000261201.4	37	c.4082	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978958	0.74360	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.74	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.109676	0.64402	D	0.000007	D	0.97720	0.9252	H	0.98155	4.16	0.58432	D	0.999994	D;D	0.76494	0.999;0.995	D;D	0.76071	0.987;0.938	D	0.99457	1.0942	10	0.87932	D	0	-15.7193	17.9259	0.88983	0.0:1.0:0.0:0.0	.	1361;1361	O60706;O60706-2	ABCC9_HUMAN;.	I	1361;988;1361;1325	ENSP00000261200:R1361I;ENSP00000440521:R988I;ENSP00000261201:R1361I;ENSP00000261202:R1325I	ENSP00000261200:R1361I	R	-	2	0	ABCC9	21858865	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.429000	0.59901	2.441000	0.82636	0.650000	0.86243	AGA	ABCC9	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.398	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	30	0	C	NM_005691		21967598	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	A	A	21967598	C	A	21967598	3	1	54	1	0	0	0	0	1	0	0	0	59	913	32	3	733	3	ABCC9	12	21967598	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	48423	21967598	111884297	226	13520											
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	-	0	37	0	C	NM_033360		25398284	-1	tier1	rs121913529	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	T	T	25398284	C	T	25398284	3	4	54	1	0	0	0	0	1	0	0	0	8465	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3430686	25398284	108453611	227	13521											
CPNE8	144402	genome.wustl.edu	37	chr12	39155952	39155952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataatgctctgactgagatCttgaatgcttgccatactgg	10	13	9	9	0	2	3	0	3	2	1	2	4	2	3	1	1	4	2	1	1	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:39155952C>T	ENST00000331366.5	-	9	738	c.642G>A	c.(640-642)aaG>aaA	p.K214K	CPNE8_ENST00000360449.3_Silent_p.K202K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	214	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.K214N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TGACTGAGATCTTGAATGCTT	0.308																																																	1	Substitution - Missense(1)	large_intestine(1)											114	107	109					12																	39155952		2203	4299	6502	SO:0001819	synonymous_variant	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.642G>A	12.37:g.39155952C>T			Q2TB41|Q86VY2	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.K214	ENST00000331366.5	37	c.642	CCDS8733.1	12																																																																																			CPNE8	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000139117		0.308	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1		0	59	0	C	NM_153634		39155952	-1			no_errors	ENST00000331366	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	39155952	C	T	39155952	2	4	54	1	0	0	0	0	0	0	0	1	3825	912	32	3		3	CPNE8	12	39155952	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	13757668	39155952	94695943	228	13522											
LRRK2	120892	genome.wustl.edu	37	chr12	40714949	40714949	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttggtcaagattaatcaAtcgattacttgagatttcac	13	16	6	6	1	3	2	3	1	0	2	4	4	3	2	0	1	1	0	0	1	4	6	rs139014427		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:40714949A>C	ENST00000298910.7	+	35	5187	c.5129A>C	c.(5128-5130)aAt>aCt	p.N1710T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1710					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGATTAATCAATCGATTACTT	0.333																																																	0													130	126	128					12																	40714949		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5129A>C	12.37:g.40714949A>C	ENSP00000298910:p.Asn1710Thr		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.N1710T	ENST00000298910.7	37	c.5129	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	1.663	-0.511066	0.04231	.	.	ENSG00000188906	ENST00000298910	T	0.70399	-0.48	5.92	-0.486	0.12064	.	0.348947	0.35936	N	0.002895	T	0.37265	0.0997	N	0.01874	-0.695	0.35969	D	0.835157	B;B	0.11235	0.002;0.004	B;B	0.12837	0.006;0.008	T	0.20571	-1.0271	10	0.12766	T	0.61	.	10.3502	0.43931	0.6818:0.0:0.3182:0.0	.	1710;1710	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1710	ENSP00000298910:N1710T	ENSP00000298910:N1710T	N	+	2	0	LRRK2	39001216	1.000000	0.71417	0.989000	0.46669	0.917000	0.54804	1.231000	0.32624	-0.057000	0.13199	-0.899000	0.02877	AAT	LRRK2	-	NULL	ENSG00000188906		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	81	0	A	XM_058513		40714949	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	39.22	31	20	SNP	0.997	C	C	40714949	A	C	40714949	3	2	54	1	0	0	0	0	1	0	0	0	9068	101	4	4	5267	4	LRRK2	12	40714949	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	1558997	40714949	93136946	229	13523											
PDZRN4	29951	genome.wustl.edu	37	chr12	41831755	41831755	+	Intron	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcttagaatgggctgCaatttgtgcacttttcagaa	9	15	9	8	0	2	2	1	0	1	2	2	2	2	2	0	1	3	4	0	1	4	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:41831755C>A	ENST00000402685.2	+	4	851				PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.C3*|RP11-413B19.2_ENST00000547168.1_RNA|PDZRN4_ENST00000298919.7_5'UTR	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4								ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAATGGGCTGCAATTTGTGCA	0.453																																																	0													193	196	195					12																	41831755		2203	4300	6503	SO:0001627	intron_variant	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.844-68503C>A	12.37:g.41831755C>A			Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.C3*	ENST00000402685.2	37	c.9	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.876681	0.97904	.	.	ENSG00000165966	ENST00000539469	.	.	.	4.96	4.96	0.65561	.	0.574377	0.15138	N	0.278443	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0953	0.93248	0.0:1.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000439990:C3X	C	+	3	2	PDZRN4	40118022	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.228000	0.78079	2.674000	0.91012	0.655000	0.94253	TGC	PDZRN4	-	NULL	ENSG00000165966		0.453	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	-	0	80	0	C	NM_013377		41831755	1	tier1	-	no_errors	ENST00000539469	ensembl	human	known	74_37	nonsense	27.08	35	13	SNP	1.000	A	A	41831755	C	A	41831755	1	1	54	0	1	0	0	0	0	0	0	0	11749	718	25	3		3	PDZRN4	12	41831755	Intron	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1116806	41831755	92020140	230	13524											
RND1	27289	genome.wustl.edu	37	chr12	49254792	49254792	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacacctgctcataggaGatgggcgcctgcttctggtg	7	9	13	12	1	2	1	1	0	1	1	2	2	2	1	2	3	2	3	2	3	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:49254792G>T	ENST00000309739.5	-	4	571	c.441C>A	c.(439-441)atC>atA	p.I147I		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	147					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCTCATAGGAGATGGGCGCCT	0.552																																																	0													103	95	98					12																	49254792		2203	4300	6503	SO:0001819	synonymous_variant	0			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"ras homolog gene family, member S"	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.441C>A	12.37:g.49254792G>T			A8K9P7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I147	ENST00000309739.5	37	c.441	CCDS8771.1	12																																																																																			RND1	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000172602		0.552	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RND1	HGNC	protein_coding	OTTHUMT00000408915.1	-	0	34	0	G	NM_014470		49254792	-1	tier1	-	no_errors	ENST00000309739	ensembl	human	known	74_37	silent	41.38	17	12	SNP	1.000	T	T	49254792	G	T	49254792	2	4	54	1	0	0	0	0	0	0	0	1	13464	932	33	3		3	RND1	12	49254792	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7423037	49254792	84597103	231	13525											
STAT6	6778	genome.wustl.edu	37	chr12	57492845	57492845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacataacccctgccatcCttacccatctgttcagctgt	8	11	7	15	0	2	0	1	0	1	0	3	1	3	1	5	1	4	2	5	1	2	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:57492845C>A	ENST00000300134.3	-	17	2233	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	STAT6_ENST00000454075.3_Missense_Mutation_p.K636N|STAT6_ENST00000556155.1_Missense_Mutation_p.K636N|STAT6_ENST00000538913.2_Missense_Mutation_p.K526N|STAT6_ENST00000537215.2_Missense_Mutation_p.K526N|STAT6_ENST00000543873.2_Missense_Mutation_p.K636N	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	636					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCTGCCATCCTTACCCATCT	0.537																																																	0													242	200	214					12																	57492845		2203	4300	6503	SO:0001583	missense	0			BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"SH2 domain containing"	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.1908G>T	12.37:g.57492845C>A	ENSP00000300134:p.Lys636Asn		A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.K636N	ENST00000300134.3	37	c.1908	CCDS8931.1	12	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127740	0.77549	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000555318;ENST00000542516	D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.77	4.88	0.63580	SH2 motif (1);	0.151107	0.46145	D	0.000310	D	0.95912	0.8669	L	0.27053	0.805	0.44073	D	0.99682	D;D	0.71674	0.998;0.994	D;P	0.76071	0.987;0.778	D	0.95927	0.8935	10	0.72032	D	0.01	-29.6309	10.7067	0.45958	0.0:0.9123:0.0:0.0877	.	636;636	A8K4S9;P42226	.;STAT6_HUMAN	N	636;526;526;636;636;526;636;526;64;636	ENSP00000300134:K636N;ENSP00000445409:K526N;ENSP00000438451:K636N;ENSP00000451742:K636N;ENSP00000444530:K526N;ENSP00000401486:K636N;ENSP00000450428:K64N	ENSP00000300134:K636N	K	-	3	2	STAT6	55779112	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.593000	0.36686	1.451000	0.47736	0.561000	0.74099	AAG	STAT6	-	NULL	ENSG00000166888		0.537	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT6	HGNC	protein_coding	OTTHUMT00000412248.3	-	0	78	0	C	NM_003153		57492845	-1	tier1	-	no_errors	ENST00000300134	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	A	A	57492845	C	A	57492845	3	1	54	1	0	0	0	0	1	0	0	0	15317	680	24	3	659	3	STAT6	12	57492845	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	8238053	57492845	76359050	232	13526											
SHMT2	6472	genome.wustl.edu	37	chr12	57627884	57627884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattggcttagaggtgaagAgcaagactggtgagtgagca	13	8	15	5	0	0	6	0	3	0	3	0	6	0	6	0	3	2	3	0	3	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:57627884A>G	ENST00000328923.3	+	11	1830	c.1378A>G	c.(1378-1380)Agc>Ggc	p.S460G	SHMT2_ENST00000557487.1_Missense_Mutation_p.S450G|SHMT2_ENST00000553474.1_Missense_Mutation_p.S439G|SHMT2_ENST00000393827.4_Missense_Mutation_p.S364G|SHMT2_ENST00000414700.3_Missense_Mutation_p.S439G|SHMT2_ENST00000449049.3_Missense_Mutation_p.S439G	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	460					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	AGAGGTGAAGAGCAAGACTGG	0.562																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													81	86	84					12																	57627884		2203	4300	6503	SO:0001583	missense	0			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1378A>G	12.37:g.57627884A>G	ENSP00000333667:p.Ser460Gly		B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	p.S460G	ENST00000328923.3	37	c.1378	CCDS8934.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.668|8.668	0.902092|0.902092	0.17760|0.17760	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000557529|ENST00000328923;ENST00000557487;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827	.|T;T;T;T;T;T	.|0.32988	.|1.55;1.47;1.55;1.55;1.55;1.43	4.98|4.98	2.58|2.58	0.30949|0.30949	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.574499	.|0.19988	.|N	.|0.101626	T|T	0.17238|0.17238	0.0414|0.0414	N|N	0.17838|0.17838	0.53|0.53	0.27008|0.27008	N|N	0.964757|0.964757	.|B;B;B;B;B	.|0.06786	.|0.0;0.0;0.001;0.0;0.001	.|B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.0;0.001	T|T	0.12344|0.12344	-1.0551|-1.0551	5|10	.|0.48119	.|T	.|0.1	-12.2616|-12.2616	6.0057|6.0057	0.19544|0.19544	0.5787:0.3344:0.0869:0.0|0.5787:0.3344:0.0869:0.0	.|.	.|469;450;364;391;460	.|B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897	.|.;.;.;.;GLYM_HUMAN	G|G	259|460;450;439;439;439;364	.|ENSP00000333667:S460G;ENSP00000452315:S450G;ENSP00000406881:S439G;ENSP00000452419:S439G;ENSP00000413770:S439G;ENSP00000377413:S364G	.|ENSP00000333667:S460G	E|S	+|+	2|1	0|0	SHMT2|SHMT2	55914151|55914151	1.000000|1.000000	0.71417|0.71417	0.886000|0.886000	0.34754|0.34754	0.205000|0.205000	0.24178|0.24178	2.793000|2.793000	0.47845|0.47845	0.840000|0.840000	0.34995|0.34995	0.533000|0.533000	0.62120|0.62120	GAG|AGC	SHMT2	-	superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase	ENSG00000182199		0.562	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT2	HGNC	protein_coding	OTTHUMT00000412525.2	-	0	41	0	A	NM_005412		57627884	1	tier1	-	no_errors	ENST00000328923	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.982	G	G	57627884	A	G	57627884	3	3	54	1	0	0	0	0	1	0	0	0	14331	304	11	4	1420	4	SHMT2	12	57627884	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	135039	57627884	76224011	233	13527											
KIF5A	3798	genome.wustl.edu	37	chr12	57963919	57963919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacgaggaggagatccgcCgtctctataagcagcttgac	12	8	11	10	3	1	2	0	1	1	1	3	5	2	3	2	2	3	2	2	2	4	4	rs140917012		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:57963919C>T	ENST00000455537.2	+	12	1541	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	KIF5A_ENST00000286452.5_Missense_Mutation_p.R334C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	423					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGAGATCCGCCGTCTCTATAA	0.587																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	44	36	39		1267	4.8	1	12	dbSNP_134	39	0,8600		0,0,4300	no	missense	KIF5A	NM_004984.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	423/1033	57963919	1,13005	2203	4300	6503	SO:0001583	missense	0			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1267C>T	12.37:g.57963919C>T	ENSP00000408979:p.Arg423Cys		A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R423C	ENST00000455537.2	37	c.1267	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985545	0.53934	2.27E-4	0.0	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.77877	-1.13;-1.13	4.79	4.79	0.61399	.	0.069272	0.56097	D	0.000024	T	0.66218	0.2767	L	0.28400	0.85	0.58432	D	0.999991	B;B	0.14438	0.01;0.002	B;B	0.08055	0.003;0.003	T	0.64922	-0.6293	10	0.72032	D	0.01	.	10.7372	0.46133	0.2943:0.7057:0.0:0.0	.	334;423	B7Z2M7;Q12840	.;KIF5A_HUMAN	C	423;334	ENSP00000408979:R423C;ENSP00000286452:R334C	ENSP00000286452:R334C	R	+	1	0	KIF5A	56250186	0.919000	0.31177	1.000000	0.80357	0.856000	0.48823	2.188000	0.42612	2.667000	0.90743	0.655000	0.94253	CGT	KIF5A	-	superfamily_P-loop_NTPase	ENSG00000155980		0.587	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	-	0	32	0	C	NM_004984		57963919	1	tier1	rs140917012	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T	T	57963919	C	T	57963919	3	4	54	1	0	0	0	0	1	0	0	0	8332	652	23	1	1313	1	KIF5A	12	57963919	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	336035	57963919	75887976	234	13528											
KIF5A	3798	genome.wustl.edu	37	chr12	57976385	57976385	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcaatgatgatctcttcagGaaatgccacagatatcaatg	14	11	7	9	0	4	3	3	2	1	1	5	4	4	4	1	1	1	0	1	1	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:57976385G>C	ENST00000455537.2	+	27	3267	c.2993G>C	c.(2992-2994)gGa>gCa	p.G998A	KIF5A_ENST00000286452.5_Splice_Site_p.G909A	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	998	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ATCTCTTCAGGAAATGCCACA	0.438																																																	0													212	209	210					12																	57976385		2203	4300	6503	SO:0001630	splice_region_variant	0			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"Kinesins"	6323	protein-coding gene	gene with protein product		602821	"spastic paraplegia 10 (autosomal dominant)"	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2993-1G>C	12.37:g.57976385G>C			A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G998A	ENST00000455537.2	37	c.2993	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835093	0.71373	.	.	ENSG00000155980	ENST00000455537;ENST00000286452;ENST00000547989	T;T	0.74209	-0.81;-0.82	5.47	5.47	0.80525	.	0.128235	0.52532	D	0.000080	T	0.80232	0.4585	L	0.34521	1.04	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.73708	0.981;0.981	T	0.77629	-0.2516	9	.	.	.	.	18.4974	0.90870	0.0:0.0:1.0:0.0	.	909;998	B7Z2M7;Q12840	.;KIF5A_HUMAN	A	998;909;92	ENSP00000408979:G998A;ENSP00000286452:G909A	.	G	+	2	0	KIF5A	56262652	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.883000	0.87264	2.737000	0.93849	0.655000	0.94253	GGA	KIF5A	-	NULL	ENSG00000155980		0.438	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	-	0	65	0	G	NM_004984	Missense_Mutation	57976385	1	tier1	-	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	21.28	36	10	SNP	1.000	C	C	57976385	G	C	57976385	5	2	54	1	0	0	0	0	0	0	1	0	8332	1188	41	5	3099	5	KIF5A	12	57976385	Splice_Site	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	12466	57976385	75875510	235	13529											
LGR5	8549	genome.wustl.edu	37	chr12	71978313	71978313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaagcaaacctacgtctgGacaagatcaaaacacccaag	19	4	7	11	1	2	2	1	0	1	2	2	3	2	3	2	1	4	1	2	1	7	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:71978313G>T	ENST00000266674.5	+	18	2834	c.2523G>T	c.(2521-2523)tgG>tgT	p.W841C	LGR5_ENST00000536515.1_Missense_Mutation_p.W769C|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.W817C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	841					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTACGTCTGGACAAGATCAA	0.448																																																	0													132	126	128					12																	71978313		2203	4300	6503	SO:0001583	missense	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2523G>T	12.37:g.71978313G>T	ENSP00000266674:p.Trp841Cys		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.W841C	ENST00000266674.5	37	c.2523	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507592	0.27036	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.36520	1.25;1.25;1.25	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000007	T	0.45196	0.1330	M	0.73598	2.24	0.80722	D	1	B;B	0.17852	0.024;0.007	B;B	0.18871	0.023;0.005	T	0.35226	-0.9797	10	0.59425	D	0.04	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	817;841	O75473-2;O75473	.;LGR5_HUMAN	C	841;769;817	ENSP00000266674:W841C;ENSP00000443033:W769C;ENSP00000441035:W817C	ENSP00000266674:W841C	W	+	3	0	LGR5	70264580	1.000000	0.71417	0.931000	0.37212	0.554000	0.35429	5.417000	0.66423	2.812000	0.96745	0.557000	0.71058	TGG	LGR5	-	NULL	ENSG00000139292		0.448	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	-	0	68	0	G	NM_003667		71978313	1	tier1	-	no_errors	ENST00000266674	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	T	T	71978313	G	T	71978313	3	4	54	1	0	0	0	0	1	0	0	0	8786	1183	41	3	2593	3	LGR5	12	71978313	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	14001928	71978313	61873582	236	13530											
UTP20	27340	genome.wustl.edu	37	chr12	101732688	101732688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcagaaaaggtgaaaaaGaaaaagaatagagcacaagt	23	3	11	4	1	0	5	0	1	0	4	0	5	0	5	0	1	2	2	0	1	9	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:101732688G>T	ENST00000261637.4	+	31	4140	c.3966G>T	c.(3964-3966)aaG>aaT	p.K1322N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1322	Poly-Lys.				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGGTGAAAAAGAAAAAGAATA	0.348																																																	0													74	76	75					12																	101732688		2203	4298	6501	SO:0001583	missense	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3966G>T	12.37:g.101732688G>T	ENSP00000261637:p.Lys1322Asn		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.K1322N	ENST00000261637.4	37	c.3966	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979262	0.74360	.	.	ENSG00000120800	ENST00000261637	T	0.19105	2.17	5.63	4.74	0.60224	Armadillo-type fold (1);	0.093522	0.64402	D	0.000001	T	0.34048	0.0884	L	0.53249	1.67	0.47341	D	0.999398	D	0.69078	0.997	P	0.61477	0.889	T	0.04333	-1.0959	10	0.25751	T	0.34	-18.9331	10.6924	0.45879	0.1459:0.0:0.8541:0.0	.	1322	O75691	UTP20_HUMAN	N	1322	ENSP00000261637:K1322N	ENSP00000261637:K1322N	K	+	3	2	UTP20	100256819	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.140000	0.77322	1.379000	0.46325	0.491000	0.48974	AAG	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.348	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1		0	25	0	G	NM_014503		101732688	1			no_errors	ENST00000261637	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	101732688	G	T	101732688	3	4	54	1	0	0	0	0	1	0	0	0	17148	933	33	3	4088	3	UTP20	12	101732688	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	29754375	101732688	32119207	237	13531											
WDR66	144406	genome.wustl.edu	37	chr12	122359385	122359385	+	Frame_Shift_Del	DEL	C	C	-																															gaggaggagaggaaaacgggCgaggaggaaggggaggagga																								rs370060195		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:122359385delC	ENST00000288912.4	+	2	1028	c.174delC	c.(172-174)ggcfs	p.G58fs	WDR66_ENST00000397454.2_Frame_Shift_Del_p.G58fs	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463																																					Esophageal Squamous(85;849 1794 49757 52143)												0													44	45	45					12																	122359385		1915	4116	6031	SO:0001589	frameshift_variant	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.174delC	12.37:g.122359385delC	ENSP00000288912:p.Gly58fs		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E59fs	ENST00000288912.4	37	c.174	CCDS41853.1	12																																																																																			WDR66	-	NULL	ENSG00000158023		0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1		0	14	0	C	NM_144668		122359385	1	tier1		no_errors	ENST00000288912	ensembl	human	known	74_37	frame_shift_del	33.33	8	4	DEL	0.000	-	-	122359385	C	-	122359385	7	5	54	1	0	1	0	1	0	0	0	0	17366	755	27	0	176	0	WDR66	12	122359385	Frame_Shift_Del	DEL	C	TCGA-L5-A4OE-01A-11D-A27G-09	20626697	122359385	11492510	238	13532											
HIP1R	9026	genome.wustl.edu	37	chr12	123341034	123341034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagccaggaggaggtggCgcgggtgaaggagcagctgg	10	3	21	7	2	0	1	0	1	0	0	0	4	0	4	1	7	3	3	1	7	2	0	rs372462877		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:123341034C>T	ENST00000253083.4	+	16	1582	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	486					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GAGGAGGTGGCGCGGGTGAAG	0.657																																																	0								C	VAL/ALA	0,4390		0,0,2195	78	70	72		1457	3.8	1	12		72	1,8589		0,1,4294	no	missense	HIP1R	NM_003959.1	64	0,1,6489	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	486/1069	123341034	1,12979	2195	4295	6490	SO:0001583	missense	0			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.1457C>T	12.37:g.123341034C>T	ENSP00000253083:p.Ala486Val		A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.A486V	ENST00000253083.4	37	c.1457	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551697	0.65311	0.0	1.16E-4	ENSG00000130787	ENST00000253083	T	0.15017	2.46	4.69	3.8	0.43715	.	0.155240	0.56097	D	0.000026	T	0.19127	0.0459	M	0.68317	2.08	0.40252	D	0.97808	P;P;D	0.60575	0.454;0.955;0.988	B;B;B	0.40329	0.048;0.326;0.194	T	0.07404	-1.0774	10	0.38643	T	0.18	-17.602	12.7554	0.57333	0.0:0.9196:0.0:0.0804	.	486;486;474	O75146;Q6NXG8;B3KQW8	HIP1R_HUMAN;.;.	V	486	ENSP00000253083:A486V	ENSP00000253083:A486V	A	+	2	0	HIP1R	121906987	1.000000	0.71417	0.985000	0.45067	0.966000	0.64601	4.962000	0.63687	0.971000	0.38288	0.561000	0.74099	GCG	HIP1R	-	NULL	ENSG00000130787		0.657	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1	-	0	51	0	C	NM_003959		123341034	1	tier1	-	no_errors	ENST00000253083	ensembl	human	known	74_37	missense	48.89	23	22	SNP	0.989	T	T	123341034	C	T	123341034	3	4	54	1	0	0	0	0	1	0	0	0	7142	768	27	1	1519	1	HIP1R	12	123341034	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	981649	123341034	10510861	239	13533											
TCTN2	79867	genome.wustl.edu	37	chr12	124171412	124171412	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaatttaacaacgctgttCagacggtcctgcttcaccgg	10	11	8	12	3	3	1	3	0	0	1	4	1	4	1	2	2	3	3	2	2	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:124171412C>T	ENST00000303372.5	+	6	722	c.594C>T	c.(592-594)ttC>ttT	p.F198F	TCTN2_ENST00000426174.2_Silent_p.F197F	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	198					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAACGCTGTTCAGACGGTCCT	0.527																																																	0													187	147	160					12																	124171412		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.594C>T	12.37:g.124171412C>T			A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.F198	ENST00000303372.5	37	c.594	CCDS9253.1	12																																																																																			TCTN2	-	pfam_DUF1619	ENSG00000168778		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	-	0	83	0	C	NM_024809		124171412	1	tier1	-	no_errors	ENST00000303372	ensembl	human	known	74_37	silent	8.51	86	8	SNP	0.874	T	T	124171412	C	T	124171412	2	4	54	1	0	0	0	0	0	0	0	1	15770	825	29	3		3	TCTN2	12	124171412	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	830378	124171412	9680483	240	13534											
NCOR2	9612	genome.wustl.edu	37	chr12	124835202	124835202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcaggctgtcctcccGgccgcggtccaagcgactcg	4	7	14	16	5	0	0	0	0	0	0	4	1	3	0	4	4	1	2	4	4	1	1	rs373295499		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:124835202G>A	ENST00000405201.1	-	28	3775	c.3775C>T	c.(3775-3777)Cgg>Tgg	p.R1259W	NCOR2_ENST00000404621.1_Missense_Mutation_p.R1249W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1250W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1249W|NCOR2_ENST00000356219.3_Missense_Mutation_p.R1266W|NCOR2_ENST00000404121.2_Missense_Mutation_p.R820W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1267					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGTCCTCCCGGCCGCGGTCC	0.652																																																	0								G	TRP/ARG,TRP/ARG,TRP/ARG	2,4338		0,2,2168	77	84	82		3745,3745,3775	2.9	0.9	12		82	0,8538		0,0,4269	no	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	101,101,101	0,2,6437	AA,AG,GG		0.0,0.0461,0.0155	probably-damaging,probably-damaging,probably-damaging	1249/2459,1249/2505,1259/2515	124835202	2,12876	2170	4269	6439	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3775C>T	12.37:g.124835202G>A	ENSP00000384018:p.Arg1259Trp		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1266W	ENST00000405201.1	37	c.3796	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538467	0.45176	4.61E-4	0.0	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.58506	1.24;1.5;1.24;1.5;1.29;1.5;0.33	4.99	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.64404	1.975	0.43793	D	0.996339	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.974;0.993;0.984	T	0.75534	-0.3284	10	0.87932	D	0	-25.7219	13.8341	0.63400	0.0:0.0:0.7585:0.2415	.	1249;1250;1259	C9J0Q5;C9J239;C9JFD3	.;.;.	W	1259;1249;1266;1250;1258;820;1249;1267	ENSP00000384018:R1259W;ENSP00000384202:R1249W;ENSP00000348551:R1266W;ENSP00000380513:R1250W;ENSP00000385618:R820W;ENSP00000400281:R1249W;ENSP00000402808:R1267W	ENSP00000348551:R1266W	R	-	1	2	NCOR2	123401155	0.995000	0.38212	0.937000	0.37676	0.670000	0.39368	2.309000	0.43699	2.315000	0.78130	0.478000	0.44815	CGG	NCOR2	-	NULL	ENSG00000196498		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	86	0	G	NM_006312		124835202	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	16.44	61	12	SNP	0.882	A	A	124835202	G	A	124835202	3	1	54	1	0	0	0	0	1	0	0	0	10275	1115	39	1	3849	1	NCOR2	12	124835202	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	663790	124835202	9016693	241	13535											
TMEM132D	121256	genome.wustl.edu	37	chr12	129558777	129558777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgctcatcttgcgaggaGgcaaagttgatgtgattctc	9	14	11	7	1	3	2	1	2	2	0	4	4	3	3	0	2	2	3	0	2	1	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:129558777G>A	ENST00000422113.2	-	9	3269	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A	TMEM132D_ENST00000389441.4_Silent_p.A519A	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	981					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTGCGAGGAGGCAAAGTTGA	0.488																																																	0													120	106	111					12																	129558777		2203	4300	6503	SO:0001819	synonymous_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2943C>T	12.37:g.129558777G>A			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	NULL	p.A981	ENST00000422113.2	37	c.2943	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0	54	0	G	NM_133448		129558777	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	silent	39.62	32	21	SNP	0.000	A	A	129558777	G	A	129558777	2	1	54	1	0	0	0	0	0	0	0	1	16094	987	35	3		3	TMEM132D	12	129558777	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4723575	129558777	4293118	242	13536											
POLE	5426	genome.wustl.edu	37	chr12	133219196	133219196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggaccccatagttgatCttgtcagccacacagatagg	11	9	9	12	0	2	2	1	1	1	1	3	3	3	3	4	2	1	1	4	2	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr12:133219196C>T	ENST00000320574.5	-	37	4891	c.4848G>A	c.(4846-4848)aaG>aaA	p.K1616K	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Silent_p.K1589K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1616					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CATAGTTGATCTTGTCAGCCA	0.577								DNA polymerases (catalytic subunits)																																									0													57	59	58					12																	133219196		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4848G>A	12.37:g.133219196C>T			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.K1616	ENST00000320574.5	37	c.4848	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA_pol_e_suA_C	ENSG00000177084		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	30	0	C	NM_006231		133219196	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	silent	48.39	16	15	SNP	0.929	T	T	133219196	C	T	133219196	2	4	54	1	0	0	0	0	0	0	0	1	12235	912	32	3		3	POLE	12	133219196	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3660419	133219196	632699	243	13537											
MAB21L1	4081	genome.wustl.edu	37	chr13	36049408	36049408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggcaagactcgtcccagtCcgactctcggggatgctttt	7	10	11	13	3	1	1	0	0	1	1	5	3	3	2	2	3	1	2	2	3	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr13:36049408C>T	ENST00000379919.4	-	1	1424	c.868G>A	c.(868-870)Gac>Aac	p.D290N	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	290					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TCGTCCCAGTCCGACTCTCGG	0.542																																																	0													98	84	89					13																	36049408		2203	4300	6503	SO:0001583	missense	0			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.868G>A	13.37:g.36049408C>T	ENSP00000369251:p.Asp290Asn		Q6I9T5	Missense_Mutation	SNP	pfam_Mab-21_dom	p.D290N	ENST00000379919.4	37	c.868	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382673	0.82792	.	.	ENSG00000180660	ENST00000379919	T	0.09255	3.0	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.23210	0.0561	L	0.43152	1.355	0.80722	D	1	P	0.38863	0.65	P	0.51701	0.677	T	0.00132	-1.2011	10	0.40728	T	0.16	-24.7997	19.9576	0.97228	0.0:1.0:0.0:0.0	.	290	Q13394	MB211_HUMAN	N	290	ENSP00000369251:D290N	ENSP00000369251:D290N	D	-	1	0	MAB21L1	34947408	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GAC	MAB21L1	-	pfam_Mab-21_dom	ENSG00000180660		0.542	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	-	0	66	0	C	NM_005584		36049408	-1	tier1	-	no_errors	ENST00000379919	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	T	T	36049408	C	T	36049408	3	4	54	1	0	0	0	0	1	0	0	0	9177	855	30	3	215	3	MAB21L1	13	36049408	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		36049408	79120470	244	13538											
CSNK1A1L	122011	genome.wustl.edu	37	chr13	37679185	37679185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatgtgggggatgccaaccCcaccttgaagaatcgtgtag	10	8	13	10	1	0	2	0	1	0	1	1	3	0	3	4	2	2	2	4	2	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr13:37679185C>A	ENST00000379800.3	-	1	618	c.209G>T	c.(208-210)gGg>gTg	p.G70V		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	70	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GATGCCAACCCCACCTTGAAG	0.512																																																	0													141	122	129					13																	37679185		2203	4300	6503	SO:0001583	missense	0			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.209G>T	13.37:g.37679185C>A	ENSP00000369126:p.Gly70Val		Q5T2N2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G70V	ENST00000379800.3	37	c.209	CCDS9363.1	13	.	.	.	.	.	.	.	.	.	.	C	10.47	1.357911	0.24598	.	.	ENSG00000180138	ENST00000379800	T	0.19250	2.16	0.778	0.778	0.18543	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.37663	-0.9696	10	0.87932	D	0	.	7.3576	0.26727	0.0:1.0:0.0:0.0	.	70	Q8N752	KC1AL_HUMAN	V	70	ENSP00000369126:G70V	ENSP00000369126:G70V	G	-	2	0	CSNK1A1L	36577185	1.000000	0.71417	0.342000	0.25602	0.093000	0.18481	5.293000	0.65680	0.686000	0.31488	0.561000	0.74099	GGG	CSNK1A1L	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000180138		0.512	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1A1L	HGNC	protein_coding	OTTHUMT00000044563.1	-	0	96	0	C	NM_145203		37679185	-1	tier1	-	no_errors	ENST00000379800	ensembl	human	known	74_37	missense	36.67	57	33	SNP	1.000	A	A	37679185	C	A	37679185	3	1	54	1	0	0	0	0	1	0	0	0	3960	623	22	3	808	3	CSNK1A1L	13	37679185	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1629777	37679185	77490693	245	13539											
DGKH	160851	genome.wustl.edu	37	chr13	42773722	42773722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggatattcagaaaaatGtgtcatgaacaattactttg	16	13	8	4	0	2	3	2	1	0	2	2	4	2	4	0	1	2	0	0	1	6	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr13:42773722G>T	ENST00000337343.4	+	19	2327	c.2306G>T	c.(2305-2307)tGt>tTt	p.C769F	DGKH_ENST00000379274.2_Missense_Mutation_p.C633F|DGKH_ENST00000261491.5_Missense_Mutation_p.C769F|DGKH_ENST00000536612.1_Missense_Mutation_p.C633F|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.C524F|DGKH_ENST00000540693.1_Missense_Mutation_p.C769F	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	769					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCAGAAAAATGTGTCATGAAC	0.294																																																	0													35	37	37					13																	42773722		2198	4284	6482	SO:0001583	missense	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2306G>T	13.37:g.42773722G>T	ENSP00000337572:p.Cys769Phe		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.C769F	ENST00000337343.4	37	c.2306	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351014	0.82132	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.995;0.996	D;D;D;D	0.79784	0.993;0.981;0.964;0.968	T	0.67879	-0.5556	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	524;633;769;769	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	F	769;769;769;633;633;524	ENSP00000440823:C769F;ENSP00000337572:C769F;ENSP00000261491:C769F;ENSP00000368576:C633F;ENSP00000445114:C633F;ENSP00000441308:C524F	ENSP00000261491:C769F	C	+	2	0	DGKH	41671722	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.714000	0.98744	2.727000	0.93392	0.591000	0.81541	TGT	DGKH	-	NULL	ENSG00000102780		0.294	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	-	0	68	0	G	NM_178009		42773722	1	tier1	-	no_errors	ENST00000337343	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	T	T	42773722	G	T	42773722	3	4	54	1	0	0	0	0	1	0	0	0	4484	1377	48	3	2380	3	DGKH	13	42773722	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	5094537	42773722	72396156	246	13540											
ATP11A	23250	genome.wustl.edu	37	chr13	113487324	113487324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgacgaggtggcgctggtcGaaggtgtccagaggtacgtc	7	7	17	10	5	0	1	0	0	0	1	3	4	1	1	2	5	1	2	2	5	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr13:113487324G>A	ENST00000487903.1	+	14	1634	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	ATP11A_ENST00000283558.8_Missense_Mutation_p.E516K|ATP11A_ENST00000375630.2_Missense_Mutation_p.E516K|ATP11A_ENST00000375645.3_Missense_Mutation_p.E516K			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	516					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGCGCTGGTCGAAGGTGTCCA	0.627																																																	0													107	116	113					13																	113487324		2203	4300	6503	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1546G>A	13.37:g.113487324G>A	ENSP00000420387:p.Glu516Lys		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E516K	ENST00000487903.1	37	c.1546	CCDS32011.1	13	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793584	0.70452	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.71	5.71	0.89125	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	N	0.17631	0.505	0.80722	D	1	B;P;B	0.37708	0.206;0.606;0.103	B;B;B	0.38458	0.042;0.274;0.142	T	0.44452	-0.9327	10	0.07990	T	0.79	.	19.8575	0.96767	0.0:0.0:1.0:0.0	.	516;516;516	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	K	516	ENSP00000420387:E516K;ENSP00000364781:E516K;ENSP00000364796:E516K;ENSP00000283558:E516K	ENSP00000283558:E516K	E	+	1	0	ATP11A	112535325	1.000000	0.71417	0.609000	0.28983	0.729000	0.41735	7.598000	0.82745	2.698000	0.92095	0.561000	0.74099	GAA	ATP11A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000068650		0.627	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3	-	0	56	0	G	NM_015205		113487324	1	tier1	-	no_errors	ENST00000375630	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	113487324	G	A	113487324	3	1	54	1	0	0	0	0	1	0	0	0	1120	1059	37	1	1600	1	ATP11A	13	113487324	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	70713602	113487324	1682554	247	13541											
POTEG	404785	genome.wustl.edu	37	chr14	19563418	19563418	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttagaactgctctcatacTtgctgtatgttgtggatcgg	7	17	10	7	1	1	1	1	0	1	1	3	2	1	2	0	2	4	4	0	2	4	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:19563418T>G	ENST00000409832.3	+	5	984	c.932T>G	c.(931-933)cTt>cGt	p.L311R	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	311										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTCTCATACTTGCTGTATGT	0.368																																																	0													1	1	1					14																	19563418		323	625	948	SO:0001583	missense	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.932T>G	14.37:g.19563418T>G	ENSP00000386971:p.Leu311Arg		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L311R	ENST00000409832.3	37	c.932	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	t	12.43	1.935540	0.34189	.	.	ENSG00000222036	ENST00000409832	T	0.67698	-0.28	1.09	1.09	0.20402	Ankyrin repeat-containing domain (4);	0.704021	0.10714	U	0.642572	T	0.74030	0.3663	L	0.59967	1.855	0.24954	N	0.99178	D	0.89917	1.0	D	0.91635	0.999	T	0.59010	-0.7534	10	0.66056	D	0.02	.	4.4331	0.11538	0.0:0.0:0.0:1.0	.	311	Q6S5H5	POTEG_HUMAN	R	311	ENSP00000386971:L311R	ENSP00000386971:L311R	L	+	2	0	POTEG	18633418	0.999000	0.42202	0.833000	0.33012	0.096000	0.18686	0.510000	0.22723	0.758000	0.33059	0.155000	0.16302	CTT	POTEG	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000222036		0.368	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	-	0	166	0	T	NM_001005356		19563418	1	tier1	-	no_errors	ENST00000409832	ensembl	human	known	74_37	missense	16.88	128	26	SNP	0.881	G	G	19563418	T	G	19563418	3	3	54	1	0	0	0	0	1	0	0	0	12305	1609	56	4	950	4	POTEG	14	19563418	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09		19563418	87786122	248	13542											
OR4Q3	441669	genome.wustl.edu	37	chr14	20216180	20216180	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacctatgtggtagaggtGctggtgatagccaacagtgg	10	9	15	7	0	0	2	0	1	0	1	0	3	0	2	2	4	3	2	2	4	4	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:20216180G>T	ENST00000331723.1	+	1	594	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V198V(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGTAGAGGTGCTGGTGATAG	0.498																																																	1	Substitution - coding silent(1)	lung(1)											208	163	178					14																	20216180		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.594G>T	14.37:g.20216180G>T			Q6IEX4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V198	ENST00000331723.1	37	c.594	CCDS32020.1	14																																																																																			OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182652		0.498	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0	252	0	G			20216180	1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	silent	16.28	144	28	SNP	0.002	T	T	20216180	G	T	20216180	2	4	54	1	0	0	0	0	0	0	0	1	11120	1306	46	3		3	OR4Q3	14	20216180	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	652762	20216180	87133360	249	13543											
OR11G2	390439	genome.wustl.edu	37	chr14	20666414	20666414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accatctaagaatgaagctgGaaagcagaagactgtgactc	16	7	10	8	0	1	5	0	2	1	3	2	6	1	6	1	1	2	2	1	1	5	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:20666414G>T	ENST00000357366.3	+	1	920	c.920G>T	c.(919-921)gGa>gTa	p.G307V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		aatgaagctggaaagcagaag	0.453																																																	0													132	127	129					14																	20666414		2203	4300	6503	SO:0001583	missense	0				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"GPCR / Class A : Olfactory receptors"	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.920G>T	14.37:g.20666414G>T	ENSP00000349930:p.Gly307Val		Q6IF09|Q96R33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G307V	ENST00000357366.3	37	c.920	CCDS32032.1	14	.	.	.	.	.	.	.	.	.	.	g	8.843	0.942820	0.18281	.	.	ENSG00000196832	ENST00000357366	T	0.00099	8.73	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000247	T	0.00144	0.0004	L	0.31294	0.92	0.27261	N	0.958626	B	0.28258	0.205	B	0.32090	0.14	T	0.48317	-0.9046	10	0.32370	T	0.25	.	12.9063	0.58154	0.0:0.1638:0.8361:0.0	.	307	Q8NGC1	O11G2_HUMAN	V	307	ENSP00000349930:G307V	ENSP00000349930:G307V	G	+	2	0	OR11G2	19736254	0.108000	0.22018	0.973000	0.42090	0.455000	0.32408	0.761000	0.26489	2.569000	0.86673	0.655000	0.94253	GGA	OR11G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196832		0.453	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR11G2	HGNC	protein_coding	OTTHUMT00000395722.1		0	50	0	G			20666414	1			no_errors	ENST00000357366	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.321	T	T	20666414	G	T	20666414	3	4	54	1	0	0	0	0	1	0	0	0	10964	1174	41	3	922	3	OR11G2	14	20666414	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	450234	20666414	86683126	250	13544											
CPNE6	9362	genome.wustl.edu	37	chr14	24542190	24542190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctgagcccccaaccatGacgctgggggcctctcgggt	5	7	14	15	2	1	2	0	2	1	0	2	2	1	2	5	3	3	1	5	3	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:24542190G>A	ENST00000397016.2	+	3	356	c.45G>A	c.(43-45)atG>atA	p.M15I	CPNE6_ENST00000537691.1_Missense_Mutation_p.M70I|CPNE6_ENST00000216775.2_Missense_Mutation_p.M15I|CPNE6_ENST00000560092.1_Intron	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	15					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCCAACCATGACGCTGGGGG	0.652																																																	0													35	31	32					14																	24542190		2203	4300	6503	SO:0001583	missense	0			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.45G>A	14.37:g.24542190G>A	ENSP00000380211:p.Met15Ile		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.M70I	ENST00000397016.2	37	c.210	CCDS9607.1	14	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898865	0.33535	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.06371	3.31;3.33;3.33	4.58	4.58	0.56647	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.56097	D	0.000033	T	0.03390	0.0098	N	0.02539	-0.55	0.36890	D	0.889848	B;B	0.31859	0.343;0.066	B;B	0.34452	0.183;0.006	T	0.53322	-0.8455	10	0.45353	T	0.12	-7.4304	13.0802	0.59109	0.0:0.0:1.0:0.0	.	70;15	F5GXN1;O95741	.;CPNE6_HUMAN	I	70;15;15	ENSP00000440077:M70I;ENSP00000380211:M15I;ENSP00000216775:M15I	ENSP00000216775:M15I	M	+	3	0	CPNE6	23612030	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.404000	0.44539	2.543000	0.85770	0.563000	0.77884	ATG	CPNE6	-	superfamily_C2_dom	ENSG00000100884		0.652	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	HGNC	protein_coding	OTTHUMT00000071869.5	-	0	66	0	G			24542190	1	tier1	-	no_errors	ENST00000537691	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	A	A	24542190	G	A	24542190	3	1	54	1	0	0	0	0	1	0	0	0	3823	1290	45	3	47	3	CPNE6	14	24542190	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3875776	24542190	82807350	251	13545											
GNG2	54331	genome.wustl.edu	37	chr14	52417395	52417395	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatctatccagcactcCgatggccagcaacaacaccg	14	5	8	14	2	1	1	0	0	1	1	3	3	3	1	4	1	4	2	4	1	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:52417395C>T	ENST00000335281.4	+	0	405				GNG2_ENST00000555472.1_5'UTR|GNG2_ENST00000556752.1_5'UTR|GNG2_ENST00000556766.1_5'UTR|GNG2_ENST00000554875.1_Missense_Mutation_p.P29L|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000557376.1_Missense_Mutation_p.P39L|GNG2_ENST00000554736.1_5'UTR|GNG2_ENST00000553432.1_Missense_Mutation_p.P31L	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	TCCAGCACTCCGATGGCCAGC	0.448																																																	0													89	77	81					14																	52417395		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.-2C>T	14.37:g.52417395C>T			Q5JPE2|Q6P9A9	Missense_Mutation	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.P39L	ENST00000335281.4	37	c.116	CCDS32082.1	14	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415016	0.42817	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000554875	T;T;T	0.27890	1.64;1.64;1.64	5.21	-0.243	0.13035	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.29679	N	0.841875	.	.	.	.	.	.	T	0.29549	-1.0008	5	.	.	.	.	3.5724	0.07922	0.4378:0.3138:0.0:0.2484	.	.	.	.	L	31;39;29	ENSP00000451279:P31L;ENSP00000450758:P39L;ENSP00000451536:P29L	.	P	+	2	0	GNG2	51487145	0.653000	0.27358	0.746000	0.31095	0.203000	0.24098	0.551000	0.23361	0.107000	0.17824	-0.857000	0.03018	CCG	GNG2	-	superfamily_G-protein_gamma-like_dom	ENSG00000186469		0.448	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GNG2	HGNC	protein_coding	OTTHUMT00000411585.1	-	0	45	0	C			52417395	1	tier1	-	no_errors	ENST00000557376	ensembl	human	putative	74_37	missense	18.18	18	4	SNP	0.843	T	T	52417395	C	T	52417395	1	4	54	0	1	0	0	0	0	0	0	0	6553	667	23	1		1	GNG2	14	52417395	5'UTR	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	27875205	52417395	54932145	252	13546											
TXNDC16	57544	genome.wustl.edu	37	chr14	52937324	52937324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctttatgataggaaattCagtaacattttgcttagtac	13	16	6	6	0	2	1	1	1	1	0	2	2	2	2	0	1	3	3	0	1	6	9			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:52937324C>T	ENST00000281741.4	-	15	1758	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	463	Thioredoxin.				cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ATAGGAAATTCAGTAACATTT	0.353																																																	0													115	109	111					14																	52937324		2203	4300	6503	SO:0001583	missense	0			AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"KIAA1344"	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.1387G>A	14.37:g.52937324C>T	ENSP00000281741:p.Glu463Lys		A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E463K	ENST00000281741.4	37	c.1387	CCDS32083.1	14	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623270	0.46840	.	.	ENSG00000087301	ENST00000281741	T	0.38401	1.14	5.16	5.16	0.70880	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.456220	0.25047	N	0.033559	T	0.27454	0.0674	L	0.36672	1.1	0.25064	N	0.991044	B;B	0.32573	0.32;0.376	B;B	0.37387	0.248;0.173	T	0.18903	-1.0322	10	0.08179	T	0.78	-43.0808	10.0324	0.42109	0.0:0.9077:0.0:0.0923	.	458;463	B7ZME4;Q9P2K2	.;TXD16_HUMAN	K	463	ENSP00000281741:E463K	ENSP00000281741:E463K	E	-	1	0	TXNDC16	52007074	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	1.754000	0.38369	2.539000	0.85634	0.655000	0.94253	GAA	TXNDC16	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000087301		0.353	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC16	HGNC	protein_coding	OTTHUMT00000411681.1	-	0	47	0	C	XM_051699		52937324	-1	tier1	-	no_errors	ENST00000281741	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T	T	52937324	C	T	52937324	3	4	54	1	0	0	0	0	1	0	0	0	16844	835	29	3	1118	3	TXNDC16	14	52937324	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	519929	52937324	54412216	253	13547											
SOCS4	122809	genome.wustl.edu	37	chr14	55510760	55510760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcgttctcttcatgctaGaattgaacagtggaatcaca	12	13	8	8	1	3	2	2	1	1	1	5	3	3	3	0	1	2	2	0	1	5	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:55510760G>T	ENST00000395472.2	+	2	1333	c.1001G>T	c.(1000-1002)aGa>aTa	p.R334I	SOCS4_ENST00000555846.1_Missense_Mutation_p.R334I|SOCS4_ENST00000339298.2_Missense_Mutation_p.R334I	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	334	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CTTCATGCTAGAATTGAACAG	0.418																																																	0													110	106	107					14																	55510760		2203	4300	6503	SO:0001583	missense	0			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"Suppressors of cytokine signaling", "SH2 domain containing"	19392	protein-coding gene	gene with protein product			"suppressor of cytokine signaling 7"	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1001G>T	14.37:g.55510760G>T	ENSP00000378855:p.Arg334Ile			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R334I	ENST00000395472.2	37	c.1001	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200075	0.79015	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	D;D;D	0.89485	-2.52;-2.52;-2.52	5.82	4.93	0.64822	SH2 motif (4);	0.064498	0.64402	D	0.000013	D	0.93390	0.7892	M	0.81614	2.55	0.80722	D	1	D	0.62365	0.991	P	0.58820	0.846	D	0.94162	0.7415	10	0.87932	D	0	-21.6739	15.0055	0.71510	0.0684:0.0:0.9316:0.0	.	334	Q8WXH5	SOCS4_HUMAN	I	334	ENSP00000378855:R334I;ENSP00000452522:R334I;ENSP00000341327:R334I	ENSP00000341327:R334I	R	+	2	0	SOCS4	54580513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	1.452000	0.47756	0.655000	0.94253	AGA	SOCS4	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000180008		0.418	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	-	0	87	0	G			55510760	1	tier1	-	no_errors	ENST00000339298	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	T	T	55510760	G	T	55510760	3	4	54	1	0	0	0	0	1	0	0	0	14961	942	33	3	1003	3	SOCS4	14	55510760	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2573436	55510760	51838780	254	13548											
TBPL2	387332	genome.wustl.edu	37	chr14	55895654	55895654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaagcttctgcaccacaCgagcatattttcttgctgca	10	11	6	14	1	2	0	0	0	2	0	2	1	2	0	2	0	5	5	2	0	2	5	rs535815795		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:55895654C>T	ENST00000247219.5	-	5	897	c.827G>A	c.(826-828)cGt>cAt	p.R276H		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTGCACCACACGAGCATATTT	0.458													C|||	1	0.000199681	0	0	5008	,	,		18773	0		0	False		,,,				2504	0.001																0													100	100	100					14																	55895654		2203	4300	6503	SO:0001583	missense	0			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.827G>A	14.37:g.55895654C>T	ENSP00000247219:p.Arg276His			Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.R276H	ENST00000247219.5	37	c.827	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.377142	0.95945	.	.	ENSG00000182521	ENST00000247219	T	0.56275	0.47	4.91	4.91	0.64330	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	P	0.62560	0.904	D	0.84714	0.0736	10	0.87932	D	0	-13.9983	17.2626	0.87075	0.0:1.0:0.0:0.0	.	276	Q6SJ96	TBPL2_HUMAN	H	276	ENSP00000247219:R276H	ENSP00000247219:R276H	R	-	2	0	TBPL2	54965407	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.399000	0.79935	2.542000	0.85734	0.563000	0.77884	CGT	TBPL2	-	pfam_TBP	ENSG00000182521		0.458	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1		0	44	0	C	NM_199047		55895654	-1			no_errors	ENST00000247219	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T	T	55895654	C	T	55895654	3	4	54	1	0	0	0	0	1	0	0	0	15693	536	19	1	312	1	TBPL2	14	55895654	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	384894	55895654	51453886	255	13549											
TOMM20L	387990	genome.wustl.edu	37	chr14	58874106	58874106	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtgtgcgagcaaccacggGaacttctgaaagttttcaaa	13	10	10	8	2	2	1	1	1	1	0	2	3	2	2	1	1	4	2	1	1	5	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:58874106G>T	ENST00000360945.2	+	4	367	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	RP11-517O13.1_ENST00000556734.1_RNA|TIMM9_ENST00000216463.4_5'Flank	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	109					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						GCAACCACGGGAACTTCTGAA	0.423																																																	0													102	96	98					14																	58874106		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type I"					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.325G>T	14.37:g.58874106G>T	ENSP00000354204:p.Glu109*		B2RPR0	Nonsense_Mutation	SNP	pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related	p.E109*	ENST00000360945.2	37	c.325	CCDS9734.1	14	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787521	0.49997	.	.	ENSG00000196860	ENST00000360945	.	.	.	4.97	1.94	0.25998	.	0.129986	0.35235	N	0.003355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-8.3114	3.7964	0.08741	0.2998:0.1863:0.5139:0.0	.	.	.	.	X	109	.	ENSP00000354204:E109X	E	+	1	0	TOMM20L	57943859	0.959000	0.32827	0.734000	0.30879	0.718000	0.41266	1.712000	0.37940	0.692000	0.31613	0.655000	0.94253	GAA	TOMM20L	-	superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related	ENSG00000196860		0.423	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM20L	HGNC	protein_coding	OTTHUMT00000276937.1	-	0	33	0	G	NM_207377		58874106	1	tier1	-	no_errors	ENST00000360945	ensembl	human	known	74_37	nonsense	42.86	16	12	SNP	0.623	T	T	58874106	G	T	58874106	4	4	54	1	0	0	0	0	0	1	0	0	16402	1175	41	3	339	3	TOMM20L	14	58874106	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2978452	58874106	48475434	256	13550											
RPS6KA5	9252	genome.wustl.edu	37	chr14	91340005	91340005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttcacacaggtatgcaCggcagctccggaagatccta	10	9	10	12	2	1	1	1	0	0	1	3	2	3	2	2	3	3	5	2	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:91340005C>T	ENST00000261991.3	-	16	2304	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V632M	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	711					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CAGGTATGCACGGCAGCTCCG	0.473																																																	0													140	126	131					14																	91340005		2203	4300	6503	SO:0001583	missense	0			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"ribosomal protein S6 kinase, 90kD, polypeptide 5"			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2131G>A	14.37:g.91340005C>T	ENSP00000261991:p.Val711Met		O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.V711M	ENST00000261991.3	37	c.2131	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607289	0.87157	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.68624	-0.34;-0.34	5.79	5.79	0.91817	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	L	0.54323	1.7	0.80722	D	1	P	0.36282	0.546	B	0.19666	0.026	T	0.65651	-0.6116	10	0.62326	D	0.03	.	20.0435	0.97601	0.0:1.0:0.0:0.0	.	711	O75582	KS6A5_HUMAN	M	711;632	ENSP00000261991:V711M;ENSP00000442803:V632M	ENSP00000261991:V711M	V	-	1	0	RPS6KA5	90409758	1.000000	0.71417	0.988000	0.46212	0.624000	0.37722	7.794000	0.85869	2.731000	0.93534	0.650000	0.86243	GTG	RPS6KA5	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II	ENSG00000100784		0.473	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	-	0	38	0	C	NM_004755		91340005	-1	tier1	-	no_errors	ENST00000261991	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	T	T	91340005	C	T	91340005	3	4	54	1	0	0	0	0	1	0	0	0	13699	536	19	1	285	1	RPS6KA5	14	91340005	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	32465899	91340005	16009535	257	13551											
TRIP11	9321	genome.wustl.edu	37	chr14	92472507	92472507	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccttaagttctaaattctCcttctggatgcttacattac	9	17	4	11	0	3	0	0	0	3	0	5	1	4	1	2	1	3	2	2	1	5	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:92472507C>A	ENST00000267622.4	-	11	2186	c.1813G>T	c.(1813-1815)Gag>Tag	p.E605*		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	605					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTAAATTCTCCTTCTGGATG	0.313			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													96	96	96					14																	92472507		2203	4296	6499	SO:0001587	stop_gained	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1813G>T	14.37:g.92472507C>A	ENSP00000267622:p.Glu605*		B2RUT2|O14689|O15154|O95949	Nonsense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E605*	ENST00000267622.4	37	c.1813	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.19|17.19	3.325998|3.325998	0.60743|0.60743	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	.|.	.|.	.|.	6.16|6.16	3.4|3.4	0.38934|0.38934	.|.	0.048060|.	0.85682|.	D|.	0.000000|.	.|T	.|0.55657	.|0.1934	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.62886	.|-0.6759	.|3	0.45353|.	T|.	0.12|.	.|.	11.6091|11.6091	0.51049|0.51049	0.0:0.8118:0.0:0.1882|0.0:0.8118:0.0:0.1882	.|.	.|.	.|.	.|.	X|V	605;341|320	.|.	ENSP00000267622:E605X|.	E|G	-|-	1|2	0|0	TRIP11|TRIP11	91542260|91542260	1.000000|1.000000	0.71417|0.71417	0.870000|0.870000	0.34147|0.34147	0.008000|0.008000	0.06430|0.06430	5.549000|5.549000	0.67261|0.67261	0.492000|0.492000	0.27815|0.27815	-0.806000|-0.806000	0.03193|0.03193	GAG|GGA	TRIP11	-	NULL	ENSG00000100815		0.313	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	-	0	110	0	C			92472507	-1	tier1	-	no_errors	ENST00000267622	ensembl	human	known	74_37	nonsense	34.38	42	22	SNP	0.997	A	A	92472507	C	A	92472507	4	1	54	1	0	0	0	0	0	1	0	0	16603	864	30	3	4170	3	TRIP11	14	92472507	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1132502	92472507	14877033	258	13552											
KIAA1409	57578	genome.wustl.edu	37	chr14	94088106	94088106	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatatagggaatgcagactcGcttttgtttacattagacga	12	13	10	6	2	0	2	0	0	0	2	1	5	0	3	0	1	2	3	0	1	5	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:94088106G>T	ENST00000393151.2	+	30	4527	c.4527G>T	c.(4525-4527)tcG>tcT	p.S1509S	UNC79_ENST00000555664.1_Silent_p.S1509S|UNC79_ENST00000256339.4_Silent_p.S1332S|UNC79_ENST00000553484.1_Silent_p.S1531S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1509					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATGCAGACTCGCTTTTGTTTA	0.433																																																	0													97	93	94					14																	94088106		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4527G>T	14.37:g.94088106G>T			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.S1531	ENST00000393151.2	37	c.4593		14																																																																																			UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.433	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0	30	0	G	XM_028395		94088106	1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	silent	23.08	29	9	SNP	1.000	T	T	94088106	G	T	94088106	2	4	54	1	0	0	0	0	0	0	0	1	8257	1074	38	2		2	KIAA1409	14	94088106	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1615599	94088106	13261434	259	13553											
DEGS2	123099	genome.wustl.edu	37	chr14	100615693	100615693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccagccctccagacgcGtgggcacgtccacgtccagc	9	4	11	17	4	0	2	0	0	0	2	3	2	3	2	5	1	3	1	5	1	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:100615693G>A	ENST00000305631.5	-	2	1012	c.437C>T	c.(436-438)aCg>aTg	p.T146M	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2											breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTCCAGACGCGTGGGCACGTC	0.672																																																	0													30	30	30					14																	100615693		2202	4297	6499	SO:0001583	missense	0				CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"Fatty acid desaturases"	20113	protein-coding gene	gene with protein product	"sphingolipid delta(4)-desaturase 2", "dihydroceramide desaturase 2"	610862	"chromosome 14 open reading frame 66", "degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.437C>T	14.37:g.100615693G>A	ENSP00000307126:p.Thr146Met			Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.T146M	ENST00000305631.5	37	c.437	CCDS9956.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191458	0.78902	.	.	ENSG00000168350	ENST00000305631	T	0.17854	2.25	4.4	4.4	0.53042	Fatty acid desaturase, type 1 (1);	0.049683	0.85682	N	0.000000	T	0.49541	0.1563	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61744	-0.7000	10	0.66056	D	0.02	-31.8525	17.3127	0.87214	0.0:0.0:1.0:0.0	.	146	Q6QHC5	DEGS2_HUMAN	M	146	ENSP00000307126:T146M	ENSP00000307126:T146M	T	-	2	0	DEGS2	99685446	1.000000	0.71417	0.960000	0.40013	0.776000	0.43924	9.748000	0.98867	2.154000	0.67381	0.561000	0.74099	ACG	DEGS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase	ENSG00000168350		0.672	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS2	HGNC	protein_coding	OTTHUMT00000414003.1	-	0	62	0	G	NM_206918		100615693	-1	tier1	-	no_errors	ENST00000305631	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	A	A	100615693	G	A	100615693	3	1	54	1	0	0	0	0	1	0	0	0	4437	1145	40	1	542	1	DEGS2	14	100615693	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6527587	100615693	6733847	260	13554											
TECPR2	9895	genome.wustl.edu	37	chr14	102900832	102900832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcaatgcctgattctCtggctgaggaagatgacatt	11	11	11	8	0	2	4	1	3	1	1	3	6	2	6	1	3	1	1	1	3	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:102900832C>A	ENST00000359520.7	+	9	1904	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M	TECPR2_ENST00000558678.1_Missense_Mutation_p.L560M	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	560					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCTGATTCTCTGGCTGAGGA	0.512																																																	0													84	81	82					14																	102900832		2203	4300	6503	SO:0001583	missense	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.1678C>A	14.37:g.102900832C>A	ENSP00000352510:p.Leu560Met		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.L560M	ENST00000359520.7	37	c.1678	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314431	0.23908	.	.	ENSG00000196663	ENST00000359520;ENST00000380088	T	0.15718	2.4	5.24	-0.672	0.11377	.	2.306130	0.01612	N	0.022570	T	0.13243	0.0321	L	0.40543	1.245	0.09310	N	1	P;B	0.46395	0.877;0.177	B;B	0.39185	0.293;0.072	T	0.20107	-1.0285	10	0.40728	T	0.16	.	2.4524	0.04521	0.1265:0.319:0.3498:0.2047	.	560;560	A5PKY3;O15040	.;TCPR2_HUMAN	M	560	ENSP00000352510:L560M	ENSP00000352510:L560M	L	+	1	2	TECPR2	101970585	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.421000	0.07053	0.195000	0.20347	-0.315000	0.08773	CTG	TECPR2	-	NULL	ENSG00000196663		0.512	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2		0	57	0	C	NM_014844		102900832	1			no_errors	ENST00000359520	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	A	A	102900832	C	A	102900832	3	1	54	1	0	0	0	0	1	0	0	0	15791	912	32	3	1708	3	TECPR2	14	102900832	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2285139	102900832	4448708	261	13555											
AHNAK2	113146	genome.wustl.edu	37	chr14	105418203	105418203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaggggagactcacgtcGgcctccactttgggtgcaga	8	8	15	10	2	1	2	1	0	0	2	3	4	2	3	2	5	1	1	2	5	0	1	rs374514016	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr14:105418203G>A	ENST00000333244.5	-	7	3704	c.3585C>T	c.(3583-3585)gcC>gcT	p.A1195A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1195						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACTCACGTCGGCCTCCACTT	0.622													.|||	22	0.00439297	0.0144	0	5008	,	,		17512	0.001		0.001	False		,,,				2504	0.001																0								G		4,3904		0,4,1950	138	131	133		3585	-8.5	0	14		133	7,8217		1,5,4106	no	coding-synonymous	AHNAK2	NM_138420.2		1,9,6056	AA,AG,GG		0.0851,0.1024,0.0907		1195/5796	105418203	11,12121	1954	4112	6066	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3585C>T	14.37:g.105418203G>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A1195	ENST00000333244.5	37	c.3585	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	107	0	G	NM_138420		105418203	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	22.78	61	18	SNP	0.000	A	A	105418203	G	A	105418203	2	1	54	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105418203	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2517371	105418203	1931337	262	13556											
MAGEL2	54551	genome.wustl.edu	37	chr15	23889871	23889871	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccttggaattatcctGggtggcactggatcccggag	7	10	12	12	1	0	0	0	0	0	0	3	3	3	3	4	5	0	1	4	5	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:23889871G>A	ENST00000532292.1	-	1	1304	c.1210C>T	c.(1210-1212)Cag>Tag	p.Q404*		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	287	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GAATTATCCTGGGTGGCACTG	0.587																																																	0													43	44	43					15																	23889871		2007	4177	6184	SO:0001587	stop_gained	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1210C>T	15.37:g.23889871G>A	ENSP00000433433:p.Gln404*			Nonsense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.Q404*	ENST00000532292.1	37	c.1210		15																																																																																			MAGEL2	-	NULL	ENSG00000254585		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	41	0	G	NM_019066		23889871	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	nonsense	44.44	10	8	SNP	0.117	A	A	23889871	G	A	23889871	4	1	54	1	0	0	0	0	0	1	0	0	9227	1357	47	3	734	3	MAGEL2	15	23889871	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		23889871	78641521	263	13557											
C15orf2	23742	genome.wustl.edu	37	chr15	24923939	24923939	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgctttccccaatggCacagcaaagacttctggatt	11	10	9	11	0	1	1	0	0	1	1	2	2	2	2	2	2	2	4	2	2	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:24923939C>A	ENST00000329468.2	+	1	3399	c.2925C>A	c.(2923-2925)ggC>ggA	p.G975G		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	975					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCCCAATGGCACAGCAAAGA	0.478																																																	0													68	70	69					15																	24923939		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2925C>A	15.37:g.24923939C>A				Silent	SNP	NULL	p.G975	ENST00000329468.2	37	c.2925	CCDS10015.1	15																																																																																			NPAP1	-	NULL	ENSG00000185823		0.478	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0	65	0	C	NM_018958		24923939	1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	silent	30.61	34	15	SNP	0.000	A	A	24923939	C	A	24923939	2	1	54	1	0	0	0	0	0	0	0	1	1789	697	25	3		3	C15orf2	15	24923939	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1034068	24923939	77607453	264	13558											
MTMR10	54893	genome.wustl.edu	37	chr15	31253222	31253222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccaccaccagctccattaCctcctcctcctcctcctcct	5	11	2	23	0	0	0	0	0	0	0	7	0	7	0	11	0	3	1	11	0	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:31253222C>T	ENST00000435680.1	-	7	717	c.620G>A	c.(619-621)gGt>gAt	p.G207D	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.G125D|MTMR10_ENST00000425768.1_Missense_Mutation_p.V177I	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	207	Poly-Gly.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AGCTCCATTAcctcctcctcc	0.463																																																	0													51	50	51					15																	31253222		1946	4122	6068	SO:0001583	missense	0			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.620G>A	15.37:g.31253222C>T	ENSP00000402537:p.Gly207Asp		Q6P4Q6	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.G207D	ENST00000435680.1	37	c.620	CCDS45204.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.25|10.25	1.299121|1.299121	0.23650|0.23650	.|.	.|.	ENSG00000166912|ENSG00000166912	ENST00000435680;ENST00000340566|ENST00000425768	D|T	0.81821|0.51325	-1.54|0.71	5.05|5.05	0.826|0.826	0.18829|0.18829	.|.	1.823740|.	0.02668|.	N|.	0.108235|.	T|T	0.36026|0.36026	0.0952|0.0952	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.27502|0.27502	-1.0072|-1.0072	10|7	0.32370|0.35671	T|T	0.25|0.21	.|.	4.226|4.226	0.10580|0.10580	0.3288:0.4916:0.0:0.1796|0.3288:0.4916:0.0:0.1796	.|.	125;207|.	Q9NXD2-2;Q9NXD2|.	.;MTMRA_HUMAN|.	D|I	207;125|177	ENSP00000402537:G207D|ENSP00000412314:V177I	ENSP00000340637:G125D|ENSP00000412314:V177I	G|V	-|-	2|1	0|0	MTMR10|MTMR10	29040514|29040514	0.006000|0.006000	0.16342|0.16342	0.001000|0.001000	0.08648|0.08648	0.114000|0.114000	0.19823|0.19823	0.188000|0.188000	0.17018|0.17018	0.136000|0.136000	0.18733|0.18733	-0.253000|-0.253000	0.11424|0.11424	GGT|GTA	MTMR10	-	NULL	ENSG00000166912		0.463	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	HGNC	protein_coding	OTTHUMT00000430747.1	-	0	57	0	C	NM_017762		31253222	-1	tier1	-	no_errors	ENST00000435680	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.005	T	T	31253222	C	T	31253222	3	4	54	1	0	0	0	0	1	0	0	0	9977	507	18	3	1753	3	MTMR10	15	31253222	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6329283	31253222	71278170	265	13559											
RASGRP1	10125	genome.wustl.edu	37	chr15	38852095	38852095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcccagagacaccatCattcggaactgggtgatgtg	12	9	11	9	1	1	2	1	1	0	1	3	4	2	3	2	2	1	0	2	2	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:38852095C>A	ENST00000310803.5	-	2	324	c.147G>T	c.(145-147)atG>atT	p.M49I	RASGRP1_ENST00000559830.1_Missense_Mutation_p.M49I|RASGRP1_ENST00000561180.1_Missense_Mutation_p.M100I|RASGRP1_ENST00000558164.1_Missense_Mutation_p.M49I|RASGRP1_ENST00000450598.2_Missense_Mutation_p.M49I|RASGRP1_ENST00000539159.1_Start_Codon_SNP_p.M1I	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	49					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GAGACACCATCATTCGGAACT	0.537																																																	0													76	80	78					15																	38852095		1955	4161	6116	SO:0001583	missense	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.147G>T	15.37:g.38852095C>A	ENSP00000310244:p.Met49Ile		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.M49I	ENST00000310803.5	37	c.147	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641392	0.29157	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000415523;ENST00000431814;ENST00000539159;ENST00000414708;ENST00000541438	T;T;T;T	0.77877	1.62;1.62;-1.13;1.62	4.97	4.97	0.65823	Ras guanine nucleotide exchange factor, domain (1);	0.308830	0.41396	D	0.000891	T	0.67078	0.2855	N	0.24115	0.695	0.45183	D	0.998194	B;B	0.10296	0.002;0.003	B;B	0.14023	0.004;0.01	T	0.62291	-0.6885	10	0.41790	T	0.15	-30.9455	16.1185	0.81325	0.0:1.0:0.0:0.0	.	49;49	O95267;O95267-2	GRP1_HUMAN;.	I	49;49;49;49;1;49;49	ENSP00000310244:M49I;ENSP00000388540:M49I;ENSP00000444762:M1I;ENSP00000413105:M49I	ENSP00000310244:M49I	M	-	3	0	RASGRP1	36639387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.697000	0.25556	2.741000	0.93983	0.655000	0.94253	ATG	RASGRP1	-	superfamily_Ras_GEF_dom	ENSG00000172575		0.537	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	-	0	65	0	C	NM_005739		38852095	-1	tier1	-	no_errors	ENST00000310803	ensembl	human	known	74_37	missense	35.29	32	18	SNP	1.000	A	A	38852095	C	A	38852095	3	1	54	1	0	0	0	0	1	0	0	0	13119	826	29	3	2310	3	RASGRP1	15	38852095	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7598873	38852095	63679297	266	13560											
SPTBN5	51332	genome.wustl.edu	37	chr15	42153663	42153663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccttgctgcaaagccaaCgttccatcttctccactgag	8	12	6	15	1	2	1	0	1	2	0	5	1	4	1	4	0	4	3	4	0	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:42153663C>T	ENST00000320955.6	-	46	7996	c.7769G>A	c.(7768-7770)cGt>cAt	p.R2590H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2590					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCAAAGCCAACGTTCCATCTT	0.547																																																	0													73	76	75					15																	42153663		2018	4176	6194	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7769G>A	15.37:g.42153663C>T	ENSP00000317790:p.Arg2590His			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R2590H	ENST00000320955.6	37	c.7769		15	.	.	.	.	.	.	.	.	.	.	.	7.327	0.618080	0.14129	.	.	ENSG00000137877	ENST00000320955	T	0.50277	0.75	5.01	0.835	0.18886	.	0.521930	0.17433	N	0.174413	T	0.28532	0.0706	N	0.16478	0.41	0.22811	N	0.99871	B	0.02656	0.0	B	0.06405	0.002	T	0.13818	-1.0495	10	0.35671	T	0.21	.	9.6308	0.39778	0.0:0.7002:0.1056:0.1943	.	2590	Q9NRC6	SPTN5_HUMAN	H	2590	ENSP00000317790:R2590H	ENSP00000317790:R2590H	R	-	2	0	SPTBN5	39940955	0.763000	0.28462	0.111000	0.21465	0.018000	0.09664	0.377000	0.20552	-0.345000	0.08325	-1.094000	0.02160	CGT	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.547	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	54	0	C	NM_016642		42153663	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.996	T	T	42153663	C	T	42153663	3	4	54	1	0	0	0	0	1	0	0	0	15169	536	19	1	3347	1	SPTBN5	15	42153663	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3301568	42153663	60377729	267	13561											
CAPN3	825	genome.wustl.edu	37	chr15	42702844	42702844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaacagctacgagatgcGaaatgcagtcaacgacgcag	15	5	10	11	4	2	1	2	0	0	1	2	4	2	1	0	0	6	3	0	0	4	1	rs587780290		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:42702844G>A	ENST00000397163.3	+	21	2462	c.2243G>A	c.(2242-2244)cGa>cAa	p.R748Q	CAPN3_ENST00000337571.4_Missense_Mutation_p.R83Q|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000569136.1_Missense_Mutation_p.R83Q|CAPN3_ENST00000397204.4_Missense_Mutation_p.R83Q|CAPN3_ENST00000349748.3_Missense_Mutation_p.R656Q|CAPN3_ENST00000561817.1_Missense_Mutation_p.R83Q|CAPN3_ENST00000397200.4_Missense_Mutation_p.R236Q|CAPN3_ENST00000318023.7_Missense_Mutation_p.R742Q|CAPN3_ENST00000357568.3_Missense_Mutation_p.R742Q|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R655Q	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	748	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in LGMD2A). {ECO:0000269|PubMed:9266733, ECO:0000269|PubMed:9762961}.		apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R742Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TACGAGATGCGAAATGCAGTC	0.527																																																	1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM970224	CAPN3	M							59	52	55					15																	42702844		2203	4299	6502	SO:0001583	missense	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2243G>A	15.37:g.42702844G>A	ENSP00000380349:p.Arg748Gln		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R748Q	ENST00000397163.3	37	c.2243	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.670031	0.96754	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.1;-0.1	4.54	4.54	0.55810	EF-hand-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80154	0.4571	M	0.64630	1.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;1.0;1.0	T	0.82798	-0.0279	10	0.87932	D	0	.	17.5035	0.87738	0.0:0.0:1.0:0.0	.	613;661;83;656;742;748;655	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	Q	655;236;748;742;656;742;236;83;83	ENSP00000348667:R655Q;ENSP00000380349:R748Q;ENSP00000350181:R742Q;ENSP00000183936:R656Q;ENSP00000326281:R742Q;ENSP00000380384:R236Q;ENSP00000336840:R83Q;ENSP00000380387:R83Q	ENSP00000326281:R742Q	R	+	2	0	CAPN3	40490136	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.657000	0.98554	2.356000	0.79943	0.563000	0.77884	CGA	CAPN3	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000092529		0.527	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1		0	40	0	G			42702844	1			no_errors	ENST00000397163	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	42702844	G	A	42702844	3	1	54	1	0	0	0	0	1	0	0	0	2635	1058	37	1	2377	1	CAPN3	15	42702844	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	549181	42702844	59828548	268	13562											
FBN1	2200	genome.wustl.edu	37	chr15	48717990	48717990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttttacaaatgcaatGatatgatcctctgtcattga	12	14	6	9	0	2	3	1	3	1	0	3	3	3	3	2	0	2	2	2	0	4	4	rs372369490		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:48717990G>T	ENST00000316623.5	-	59	7731	c.7276C>A	c.(7276-7278)Cat>Aat	p.H2426N		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2426	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAAATGCAATGATATGATCCT	0.353																																																	0													136	116	123					15																	48717990		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7276C>A	15.37:g.48717990G>T	ENSP00000325527:p.His2426Asn		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.H2426N	ENST00000316623.5	37	c.7276	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617561	0.66787	.	.	ENSG00000166147	ENST00000316623	D	0.91521	-2.86	6.17	6.17	0.99709	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.299915	0.38111	N	0.001818	D	0.83986	0.5373	N	0.11698	0.16	0.80722	D	1	B	0.27791	0.189	B	0.22386	0.039	T	0.79398	-0.1820	10	0.46703	T	0.11	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	2426	P35555	FBN1_HUMAN	N	2426	ENSP00000325527:H2426N	ENSP00000325527:H2426N	H	-	1	0	FBN1	46505282	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	5.801000	0.69115	2.941000	0.99782	0.655000	0.94253	CAT	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.353	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1		0	76	0	G			48717990	-1			no_errors	ENST00000316623	ensembl	human	known	74_37	missense	6.06	30	2	SNP	1.000	T	T	48717990	G	T	48717990	3	4	54	1	0	0	0	0	1	0	0	0	5724	1290	45	3	1371	3	FBN1	15	48717990	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6015146	48717990	53813402	269	13563											
AP4E1	23431	genome.wustl.edu	37	chr15	51289591	51289591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaagaagctaaaagtggCgaaacaaccagtactcataa	19	6	8	8	1	2	1	2	0	0	1	2	2	2	1	1	1	4	2	1	1	8	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:51289591C>T	ENST00000261842.5	+	18	2521	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G	AP4E1_ENST00000560508.1_Silent_p.G730G	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	805					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTAAAAGTGGCGAAACAACCA	0.333																																																	0													105	102	103					15																	51289591		2196	4294	6490	SO:0001819	synonymous_variant	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2415C>T	15.37:g.51289591C>T			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.G805	ENST00000261842.5	37	c.2415	CCDS32240.1	15																																																																																			AP4E1	-	pirsf_AP4_complex_esu	ENSG00000081014		0.333	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	-	0	43	0	C			51289591	1	tier1	-	no_errors	ENST00000261842	ensembl	human	known	74_37	silent	39.47	23	15	SNP	0.000	T	T	51289591	C	T	51289591	2	4	54	1	0	0	0	0	0	0	0	1	752	755	27	1		1	AP4E1	15	51289591	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2571601	51289591	51241801	270	13564											
UNC13C	440279	genome.wustl.edu	37	chr15	54306906	54306906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgtatgacagtcccaaGgaccagcatttgaatggagg	12	8	11	10	0	0	2	0	2	0	0	1	4	1	4	3	3	1	2	3	3	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:54306906G>A	ENST00000260323.11	+	1	1806	c.1806G>A	c.(1804-1806)aaG>aaA	p.K602K	UNC13C_ENST00000537900.1_Silent_p.K602K|UNC13C_ENST00000545554.1_Silent_p.K602K	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	602					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACAGTCCCAAGGACCAGCATT	0.483																																																	0													127	122	124					15																	54306906		1981	4147	6128	SO:0001819	synonymous_variant	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1806G>A	15.37:g.54306906G>A			Q0P613|Q8ND48|Q96NP3	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K602	ENST00000260323.11	37	c.1806	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.483	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	53	0	G	NM_173166		54306906	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	silent	17.14	29	6	SNP	1.000	A	A	54306906	G	A	54306906	2	1	54	1	0	0	0	0	0	0	0	1	17035	991	35	3		3	UNC13C	15	54306906	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3017315	54306906	48224486	271	13565											
PRTG	283659	genome.wustl.edu	37	chr15	56032809	56032809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcctggcaatctaaaacGactgggtcctttcttgtgac	9	12	10	10	1	2	2	0	2	2	0	3	3	3	2	2	2	2	1	2	2	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:56032809G>A	ENST00000561292.1	-	2	326	c.168C>T	c.(166-168)gtC>gtT	p.V56V	PRTG_ENST00000389286.4_Silent_p.V56V					protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATCTAAAACGACTGGGTCCT	0.408																																																	0													103	99	100					15																	56032809		1840	4087	5927	SO:0001819	synonymous_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26373	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 5"	613261	"protogenin homolog (Gallus gallus)"				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000561292.1:c.168C>T	15.37:g.56032809G>A				Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V56	ENST00000561292.1	37	c.168		15																																																																																			PRTG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000166450		0.408	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419360.1	-	0	72	0	G	NM_173814		56032809	-1	tier1	-	no_errors	ENST00000389286	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.470	A	A	56032809	G	A	56032809	2	1	54	1	0	0	0	0	0	0	0	1	12680	1045	37	1		1	PRTG	15	56032809	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1725903	56032809	46498583	272	13566											
TLN2	83660	genome.wustl.edu	37	chr15	63092687	63092687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccagctcaagggggctGccaaggtagagtggggctcc	8	7	16	10	0	1	1	1	0	0	1	2	1	2	1	3	5	3	5	3	5	4	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:63092687G>T	ENST00000561311.1	+	48	6585	c.6355G>T	c.(6355-6357)Gcc>Tcc	p.A2119S	TLN2_ENST00000306829.6_Missense_Mutation_p.A2119S			Q9Y4G6	TLN2_HUMAN	talin 2	2119					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGGGGGCTGCCAAGGTAGA	0.557																																																	0													65	61	62					15																	63092687		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6355G>T	15.37:g.63092687G>T	ENSP00000453508:p.Ala2119Ser		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.A2119S	ENST00000561311.1	37	c.6355	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.102287	0.94245	.	.	ENSG00000171914	ENST00000306829	T	0.27104	1.69	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.62088	1.915	0.80722	D	1	D	0.63880	0.993	D	0.66497	0.944	T	0.17349	-1.0372	10	0.33940	T	0.23	-19.2809	20.0706	0.97721	0.0:0.0:1.0:0.0	.	2119	Q9Y4G6	TLN2_HUMAN	S	2119	ENSP00000303476:A2119S	ENSP00000303476:A2119S	A	+	1	0	TLN2	60879740	1.000000	0.71417	0.980000	0.43619	0.772000	0.43724	9.813000	0.99286	2.744000	0.94065	0.655000	0.94253	GCC	TLN2	-	superfamily_Vinculin/catenin	ENSG00000171914		0.557	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	49	0	G			63092687	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	T	T	63092687	G	T	63092687	3	4	54	1	0	0	0	0	1	0	0	0	15995	1319	46	3	6537	3	TLN2	15	63092687	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7059878	63092687	39438705	273	13567											
NMB	4828	genome.wustl.edu	37	chr15	85200480	85200480	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggattccgagcagatcaTgactcagctgcagtcgctgg	9	8	14	10	2	2	2	2	1	0	1	4	5	3	4	1	3	3	4	1	3	0	1	rs375215046		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:85200480T>A	ENST00000360476.3	-	2	652	c.257A>T	c.(256-258)cAt>cTt	p.H86L	NMB_ENST00000394588.3_Missense_Mutation_p.H86L|WDR73_ENST00000434634.2_5'Flank|WDR73_ENST00000398528.3_5'Flank			P08949	NMB_HUMAN	neuromedin B	86					arachidonic acid secretion (GO:0050482)|cell-cell signaling (GO:0007267)|glucose homeostasis (GO:0042593)|negative regulation of hormone secretion (GO:0046888)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hormone secretion (GO:0046887)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|neuron projection (GO:0043005)	hormone activity (GO:0005179)			endometrium(1)	1				all cancers(203;3.5e-06)		GAGCAGATCATGACTCAGCTG	0.622																																																	0													33	29	30					15																	85200480		2203	4299	6502	SO:0001583	missense	0				CCDS10332.1, CCDS42076.1	15q25.2-q25.3	2013-09-19			ENSG00000197696	ENSG00000197696			7842	protein-coding gene	gene with protein product		162340				2458345	Standard	NM_021077		Approved	MGC2277, MGC3936, MGC17211	uc002bla.3	P08949	OTTHUMG00000148666	ENST00000360476.3:c.257A>T	15.37:g.85200480T>A	ENSP00000353664:p.His86Leu		Q96A06|Q96HH5	Missense_Mutation	SNP	pfam_Bombesin	p.H86L	ENST00000360476.3	37	c.257	CCDS10332.1	15	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586993	0.66105	.	.	ENSG00000197696	ENST00000360476;ENST00000394588	T;T	0.46451	0.89;0.87	5.31	4.17	0.49024	.	0.220560	0.39687	N	0.001282	T	0.31827	0.0809	L	0.34521	1.04	0.28886	N	0.894147	B;B	0.30281	0.275;0.18	B;B	0.33454	0.164;0.044	T	0.26744	-1.0094	10	0.51188	T	0.08	-2.2437	8.2795	0.31892	0.1759:0.0:0.0:0.8241	.	86;86	P08949-2;P08949	.;NMB_HUMAN	L	86	ENSP00000353664:H86L;ENSP00000378089:H86L	ENSP00000353664:H86L	H	-	2	0	NMB	83001484	0.999000	0.42202	0.948000	0.38648	0.690000	0.40134	1.911000	0.39937	0.995000	0.38917	0.533000	0.62120	CAT	NMB	-	NULL	ENSG00000197696		0.622	NMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMB	HGNC	protein_coding	OTTHUMT00000308995.1	-	0	50	0	T	NM_021077		85200480	-1	tier1	-	no_errors	ENST00000394588	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.982	A	A	85200480	T	A	85200480	3	1	54	1	0	0	0	0	1	0	0	0	10525	1464	51	5	220	5	NMB	15	85200480	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	22107793	85200480	17330912	274	13568											
C15orf42	90381	genome.wustl.edu	37	chr15	90125942	90125942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaatccccagaccaccttgGatactggactgtttgtgaac	10	10	10	11	0	0	2	0	1	0	1	1	5	1	5	4	3	2	1	4	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:90125942G>T	ENST00000268138.7	+	2	785	c.680G>T	c.(679-681)gGa>gTa	p.G227V	RP11-429B14.3_ENST00000560477.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.G227V|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	227					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GACCACCTTGGATACTGGACT	0.438																																																	0													120	115	117					15																	90125942		1887	4124	6011	SO:0001583	missense	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.680G>T	15.37:g.90125942G>T	ENSP00000268138:p.Gly227Val		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.G227V	ENST00000268138.7	37	c.680	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433592	0.83776	.	.	ENSG00000140534	ENST00000268138	T	0.23754	1.89	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52866	-0.8518	10	0.87932	D	0	-22.3123	19.6178	0.95640	0.0:0.0:1.0:0.0	.	227	Q7Z2Z1	TICRR_HUMAN	V	227	ENSP00000268138:G227V	ENSP00000268138:G227V	G	+	2	0	C15orf42	87926946	1.000000	0.71417	0.967000	0.41034	0.978000	0.69477	6.459000	0.73513	2.716000	0.92895	0.491000	0.48974	GGA	TICRR	-	NULL	ENSG00000140534		0.438	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1		0	70	0	G	NM_152259		90125942	1			no_errors	ENST00000268138	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.988	T	T	90125942	G	T	90125942	3	4	54	1	0	0	0	0	1	0	0	0	1801	1174	41	3	686	3	C15orf42	15	90125942	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4925462	90125942	12405450	275	13569											
IGF1R	3480	genome.wustl.edu	37	chr15	99250814	99250814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggccaggcatcgacatcCgcaacgactatcagcagctg	10	5	12	14	4	1	0	1	0	0	0	3	2	2	0	2	2	3	4	2	2	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr15:99250814C>T	ENST00000268035.6	+	2	729	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	IGF1R_ENST00000558762.1_Missense_Mutation_p.R40C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	40					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CATCGACATCCGCAACGACTA	0.498																																																	0													54	45	48					15																	99250814		2197	4297	6494	SO:0001583	missense	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.118C>T	15.37:g.99250814C>T	ENSP00000268035:p.Arg40Cys		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.R40C	ENST00000268035.6	37	c.118	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513830	0.64522	.	.	ENSG00000140443	ENST00000268035	D	0.83673	-1.75	5.49	4.56	0.56223	.	0.000000	0.53938	D	0.000042	D	0.90421	0.7001	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.915;0.998	D	0.91659	0.5341	10	0.87932	D	0	.	15.0639	0.71977	0.143:0.8569:0.0:0.0	.	40;40	C9J5X1;P08069	.;IGF1R_HUMAN	C	40	ENSP00000268035:R40C	ENSP00000268035:R40C	R	+	1	0	IGF1R	97068337	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.980000	0.63812	1.423000	0.47198	-0.182000	0.12963	CGC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000140443		0.498	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	-	0	52	0	C	NM_000875		99250814	1	tier1	-	no_errors	ENST00000268035	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	T	T	99250814	C	T	99250814	3	4	54	1	0	0	0	0	1	0	0	0	7598	652	23	1	124	1	IGF1R	15	99250814	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	9124872	99250814	3280578	276	13570											
RNPS1	10921	genome.wustl.edu	37	chr16	2314307	2314307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttctcatctgagcggtCtttgcgtttggtaggtgaag	6	14	14	7	2	3	2	1	2	3	0	4	3	3	3	0	4	2	2	0	4	2	4	rs139166674		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:2314307C>A	ENST00000565678.1	-	3	642	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000301730.8_Missense_Mutation_p.D33Y|RNPS1_ENST00000320225.5_Missense_Mutation_p.D33Y|RNPS1_ENST00000397086.2_Missense_Mutation_p.D33Y|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000566458.1_Missense_Mutation_p.D10Y|RNPS1_ENST00000568631.1_Missense_Mutation_p.D33Y|RNPS1_ENST00000569598.2_Intron|RNPS1_ENST00000567147.1_Missense_Mutation_p.D10Y			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	33	Lys-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TCTGAGCGGTCTTTGCGTTTG	0.547																																																	0													123	121	122					16																	2314307		2198	4300	6498	SO:0001583	missense	0			AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"RNA binding motif (RRM) containing"	10080	protein-coding gene	gene with protein product		606447	"RNA-binding protein S1, serine-rich domain"			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.97G>T	16.37:g.2314307C>A	ENSP00000457723:p.Asp33Tyr		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D33Y	ENST00000565678.1	37	c.97	CCDS10465.1	16	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409238	0.83340	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.07114	3.22;3.22;3.22	5.69	5.69	0.88448	.	0.097461	0.64402	D	0.000001	T	0.12475	0.0303	L	0.38175	1.15	0.58432	D	0.999998	P;P	0.41214	0.736;0.742	P;B	0.44359	0.447;0.367	T	0.00800	-1.1561	10	0.72032	D	0.01	-22.4349	17.3031	0.87187	0.0:1.0:0.0:0.0	.	10;33	Q15287-2;Q15287	.;RNPS1_HUMAN	Y	33	ENSP00000315859:D33Y;ENSP00000380275:D33Y;ENSP00000301730:D33Y	ENSP00000301730:D33Y	D	-	1	0	RNPS1	2254308	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.194000	0.77789	2.688000	0.91661	0.551000	0.68910	GAC	RNPS1	-	NULL	ENSG00000205937		0.547	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNPS1	HGNC	protein_coding	OTTHUMT00000435415.1	-	0	69	0	C	NM_080594		2314307	-1	tier1	-	no_errors	ENST00000301730	ensembl	human	known	74_37	missense	58.97	16	23	SNP	1.000	A	A	2314307	C	A	2314307	3	1	54	1	0	0	0	0	1	0	0	0	13556	913	32	3	844	3	RNPS1	16	2314307	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		2314307	88040446	277	13571											
BTBD12	84464	genome.wustl.edu	37	chr16	3633275	3633275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcccttggtcttagcaGgtcccttgggcctatgggcc	3	10	16	12	0	1	0	0	0	1	0	2	0	2	0	4	6	1	1	4	6	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:3633275G>T	ENST00000294008.3	-	14	5616	c.4976C>A	c.(4975-4977)cCt>cAt	p.P1659H	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1659	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGTCTTAGCAGGTCCCTTGGG	0.622								Direct reversal of damage																																									0													96	93	94					16																	3633275		2197	4300	6497	SO:0001583	missense	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"Fanconi anemia, complementation groups", "BTB/POZ domain containing"	23845	protein-coding gene	gene with protein product	"Fanconi anemia, complementation group P"	613278	"BTB (POZ) domain containing 12", "SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4976C>A	16.37:g.3633275G>T	ENSP00000294008:p.Pro1659His		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.P1659H	ENST00000294008.3	37	c.4976	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566430	0.65651	.	.	ENSG00000188827	ENST00000294008	T	0.01152	5.26	5.06	2.66	0.31614	.	0.558093	0.13612	N	0.375027	T	0.00998	0.0033	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.18263	0.021	T	0.47623	-0.9103	10	0.54805	T	0.06	.	6.177	0.20449	0.0996:0.0:0.5535:0.3469	.	1659	Q8IY92	SLX4_HUMAN	H	1659	ENSP00000294008:P1659H	ENSP00000294008:P1659H	P	-	2	0	SLX4	3573276	0.000000	0.05858	0.002000	0.10522	0.635000	0.38103	0.085000	0.14912	1.095000	0.41419	0.655000	0.94253	CCT	SLX4	-	NULL	ENSG00000188827		0.622	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	-	0	108	0	G	NM_032444		3633275	-1	tier1	-	no_errors	ENST00000294008	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.000	T	T	3633275	G	T	3633275	3	4	54	1	0	0	0	0	1	0	0	0	1544	1000	35	3	536	3	BTBD12	16	3633275	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1318968	3633275	86721478	278	13572											
PPL	5493	genome.wustl.edu	37	chr16	4934233	4934233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagctccccctccaggaGctgccgccggtgctgctctt	3	9	11	18	3	1	0	0	0	1	0	4	2	3	1	5	2	5	4	5	2	0	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:4934233G>T	ENST00000345988.2	-	22	4512	c.4423C>A	c.(4423-4425)Ctc>Atc	p.L1475I	PPL_ENST00000590782.2_Missense_Mutation_p.L1473I	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1475					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCTCCAGGAGCTGCCGCCGG	0.647																																																	0													39	38	38					16																	4934233		2186	4258	6444	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4423C>A	16.37:g.4934233G>T	ENSP00000340510:p.Leu1475Ile		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L1475I	ENST00000345988.2	37	c.4423	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	3.618	-0.078070	0.07184	.	.	ENSG00000118898	ENST00000345988	T	0.41758	0.99	5.74	3.46	0.39613	.	0.481273	0.20174	N	0.097673	T	0.27629	0.0679	N	0.21448	0.665	0.35251	D	0.778688	B	0.09022	0.002	B	0.06405	0.002	T	0.26121	-1.0112	10	0.36615	T	0.2	.	10.125	0.42643	0.0:0.519:0.3853:0.0956	.	1475	O60437	PEPL_HUMAN	I	1475	ENSP00000340510:L1475I	ENSP00000340510:L1475I	L	-	1	0	PPL	4874234	0.996000	0.38824	1.000000	0.80357	0.550000	0.35303	1.558000	0.36309	1.450000	0.47717	0.591000	0.81541	CTC	PPL	-	NULL	ENSG00000118898		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0	44	0	G	NM_002705		4934233	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.978	T	T	4934233	G	T	4934233	3	4	54	1	0	0	0	0	1	0	0	0	12376	971	34	3	851	3	PPL	16	4934233	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1300958	4934233	85420520	279	13573											
DNAH3	55567	genome.wustl.edu	37	chr16	20975682	20975682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaatgtggattcctcaaaCgggttgtgatgtataactta	11	14	11	5	1	1	1	1	1	0	0	2	2	2	2	1	3	2	3	1	3	5	6	rs199787492	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:20975682C>T	ENST00000261383.3	-	53	9523	c.9524G>A	c.(9523-9525)cGt>cAt	p.R3175H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3175	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTCCTCAAACGGGTTGTGAT	0.453													C|||	46	0.0091853	0	0	5008	,	,		20813	0		0	False		,,,				2504	0.047																0													109	110	110					16																	20975682		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9524G>A	16.37:g.20975682C>T	ENSP00000261383:p.Arg3175His		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.R3175H	ENST00000261383.3	37	c.9524	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787960	0.31593	.	.	ENSG00000158486	ENST00000261383	T	0.23552	1.9	6.17	3.17	0.36434	.	0.209202	0.40908	N	0.000991	T	0.38957	0.1060	M	0.92412	3.305	0.18873	N	0.999987	B	0.15473	0.013	B	0.14023	0.01	T	0.45160	-0.9280	10	0.72032	D	0.01	.	11.8767	0.52552	0.0:0.7584:0.0:0.2416	.	3175	Q8TD57	DYH3_HUMAN	H	3175	ENSP00000261383:R3175H	ENSP00000261383:R3175H	R	-	2	0	DNAH3	20883183	0.423000	0.25482	0.484000	0.27391	0.992000	0.81027	1.678000	0.37586	0.945000	0.37605	0.655000	0.94253	CGT	DNAH3	-	NULL	ENSG00000158486		0.453	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	97	0	C	NM_017539		20975682	-1	tier1	rs199787492	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.006	T	T	20975682	C	T	20975682	3	4	54	1	0	0	0	0	1	0	0	0	4617	536	19	1	2865	1	DNAH3	16	20975682	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	16041449	20975682	69379071	280	13574											
SCNN1G	6340	genome.wustl.edu	37	chr16	23226660	23226660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctacccactttcaactCtgctttgcacctgcctccag	7	12	5	17	0	2	1	1	1	1	0	3	1	3	1	5	0	5	2	5	0	2	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:23226660C>A	ENST00000300061.2	+	13	1963	c.1820C>A	c.(1819-1821)tCt>tAt	p.S607Y	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	607					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACTTTCAACTCTGCTTTGCAC	0.592																																																	0													102	98	99					16																	23226660		2197	4300	6497	SO:0001583	missense	0			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1820C>A	16.37:g.23226660C>A	ENSP00000300061:p.Ser607Tyr		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.S607Y	ENST00000300061.2	37	c.1820	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256781	0.80246	.	.	ENSG00000166828	ENST00000300061	T	0.71817	-0.6	5.41	5.41	0.78517	.	0.239144	0.36555	N	0.002529	T	0.60753	0.2293	N	0.08118	0	0.42485	D	0.992875	D	0.56521	0.976	P	0.48030	0.564	T	0.70597	-0.4828	10	0.72032	D	0.01	-18.5858	18.1719	0.89747	0.0:1.0:0.0:0.0	.	607	P51170	SCNNG_HUMAN	Y	607	ENSP00000300061:S607Y	ENSP00000300061:S607Y	S	+	2	0	SCNN1G	23134161	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.626000	0.67777	2.514000	0.84764	0.561000	0.74099	TCT	SCNN1G	-	tigrfam_EnaC	ENSG00000166828		0.592	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	-	0	28	0	C	NM_001039		23226660	1	tier1	-	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A	A	23226660	C	A	23226660	3	1	54	1	0	0	0	0	1	0	0	0	13975	913	32	3	1866	3	SCNN1G	16	23226660	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2250978	23226660	67128093	281	13575											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29888628	29888628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagccctggcccaggcctgGatttgggggcccgggcggtg	4	6	19	12	2	0	0	0	0	0	0	0	2	0	1	4	7	1	0	4	7	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:29888628G>T	ENST00000308713.5	-	11	2400	c.1873C>A	c.(1873-1875)Cca>Aca	p.P625T	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P511T|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P581T|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P555T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	625	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCAGGCCTGGATTTGGGGGC	0.677																																																	0													16	19	18					16																	29888628		2197	4297	6494	SO:0001583	missense	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1873C>A	16.37:g.29888628G>T	ENSP00000312550:p.Pro625Thr		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P625T	ENST00000308713.5	37	c.1873	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006493	0.54361	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.33654	1.62;1.4;1.57;1.59	5.57	5.57	0.84162	CUB (4);	0.000000	0.56097	D	0.000038	T	0.25269	0.0614	N	0.03608	-0.345	0.36015	D	0.838315	P;D;D;D;D;D	0.61080	0.762;0.989;0.986;0.983;0.986;0.986	B;P;P;P;P;P	0.55508	0.429;0.777;0.715;0.592;0.715;0.577	T	0.22277	-1.0221	10	0.22109	T	0.4	.	8.6272	0.33897	0.1632:0.0:0.8368:0.0	.	581;625;511;555;625;555	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	T	555;625;511;581	ENSP00000310206:P555T;ENSP00000312550:P625T;ENSP00000319215:P511T;ENSP00000439412:P581T	ENSP00000312550:P625T	P	-	1	0	SEZ6L2	29796129	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.769000	0.62300	2.618000	0.88619	0.655000	0.94253	CCA	SEZ6L2	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000174938		0.677	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	-	0	68	0	G	NM_012410		29888628	-1	tier1	-	no_errors	ENST00000308713	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.972	T	T	29888628	G	T	29888628	3	4	54	1	0	0	0	0	1	0	0	0	14189	1174	41	3	930	3	SEZ6L2	16	29888628	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6661968	29888628	60466125	282	13576											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29899100	29899100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctctggggacacgatgcGgcccagggtggcattgtgga	7	7	18	9	2	1	0	0	0	1	0	1	3	1	2	1	7	1	2	1	7	0	1	rs201034422		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:29899100G>A	ENST00000308713.5	-	7	1605	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R246C|SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R316C|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R290C	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	360	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACACGATGCGGCCCAGGGTG	0.647																																																	0													34	33	34					16																	29899100		2197	4300	6497	SO:0001583	missense	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1078C>T	16.37:g.29899100G>A	ENSP00000312550:p.Arg360Cys		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R360C	ENST00000308713.5	37	c.1078	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393052	0.83011	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.46	4.44	0.53790	CUB (4);	0.000000	0.53938	D	0.000060	T	0.65080	0.2657	M	0.71206	2.165	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.99;0.999;1.0;1.0;0.999	D;P;P;D;D;P	0.74023	0.968;0.53;0.732;0.982;0.925;0.855	T	0.67845	-0.5565	10	0.72032	D	0.01	.	12.1183	0.53878	0.0:0.0:0.713:0.287	.	316;360;246;290;360;290	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	C	290;360;246;316	ENSP00000310206:R290C;ENSP00000312550:R360C;ENSP00000319215:R246C;ENSP00000439412:R316C	ENSP00000312550:R360C	R	-	1	0	SEZ6L2	29806601	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.798000	0.47884	2.579000	0.87056	0.555000	0.69702	CGC	SEZ6L2	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000174938		0.647	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	-	0	87	0	G	NM_012410		29899100	-1	tier1	rs201034422	no_errors	ENST00000308713	ensembl	human	known	74_37	missense	43.48	39	30	SNP	1.000	A	A	29899100	G	A	29899100	3	1	54	1	0	0	0	0	1	0	0	0	14189	1116	39	1	1741	1	SEZ6L2	16	29899100	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	10472	29899100	60455653	283	13577											
ZNF768	79724	genome.wustl.edu	37	chr16	30536019	30536019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcacctgtagggccgctcgCccgtgtgggagcgctggtgc	3	7	17	14	5	0	0	0	0	0	0	1	1	0	1	3	3	2	4	3	3	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:30536019C>A	ENST00000380412.5	-	2	1617	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V	ZNF768_ENST00000562803.1_Missense_Mutation_p.G450V	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	481					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGGCCGCTCGCCCGTGTGGGA	0.682																																																	0													35	31	32					16																	30536019		2197	4299	6496	SO:0001583	missense	0			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"Zinc fingers, C2H2-type"	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1442G>T	16.37:g.30536019C>A	ENSP00000369777:p.Gly481Val		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G481V	ENST00000380412.5	37	c.1442	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192113	0.58017	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.01599	4.74	4.6	4.6	0.57074	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.173783	0.27932	N	0.017277	T	0.13415	0.0325	M	0.88640	2.97	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.00643	-1.1630	10	0.87932	D	0	-8.0082	16.3261	0.82979	0.0:1.0:0.0:0.0	.	481	Q9H5H4	ZN768_HUMAN	V	481;394	ENSP00000369777:G481V	ENSP00000369777:G481V	G	-	2	0	ZNF768	30443520	0.870000	0.30015	0.998000	0.56505	0.730000	0.41778	1.979000	0.40608	2.405000	0.81733	0.436000	0.28706	GGC	ZNF768	-	pfscan_Znf_C2H2	ENSG00000169957		0.682	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	-	0	150	0	C	NM_024671		30536019	-1	tier1	-	no_errors	ENST00000380412	ensembl	human	known	74_37	missense	38.58	78	49	SNP	0.999	A	A	30536019	C	A	30536019	3	1	54	1	0	0	0	0	1	0	0	0	18189	739	26	3	184	3	ZNF768	16	30536019	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	636919	30536019	59818734	284	13578											
SRCAP	10847	genome.wustl.edu	37	chr16	30718900	30718900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcattcccacaggtggtgcGcatggtgatccggcaccacg	7	9	12	13	3	1	1	1	1	0	0	3	1	3	1	3	4	1	2	3	4	0	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:30718900G>T	ENST00000262518.4	+	6	885	c.500G>T	c.(499-501)cGc>cTc	p.R167L	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.R167L|SRCAP_ENST00000395059.2_Missense_Mutation_p.R167L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	167	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGTGGTGCGCATGGTGATC	0.557																																																	0													45	37	40					16																	30718900		2197	4300	6497	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.500G>T	16.37:g.30718900G>T	ENSP00000262518:p.Arg167Leu		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R167L	ENST00000262518.4	37	c.500	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424480	0.62733	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.82;-2.8;-2.82	5.29	5.29	0.74685	Helicase/SANT-associated, DNA binding (1);HSA (1);	0.130684	0.35525	N	0.003159	D	0.93579	0.7950	L	0.52905	1.665	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.922	D	0.93679	0.6997	10	0.62326	D	0.03	-6.8499	17.8681	0.88801	0.0:0.0:1.0:0.0	.	167;167	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	167	ENSP00000262518:R167L;ENSP00000378499:R167L;ENSP00000343042:R167L	ENSP00000262518:R167L	R	+	2	0	SRCAP	30626401	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	9.394000	0.97261	2.756000	0.94617	0.561000	0.74099	CGC	SRCAP	-	pfam_Helicase/SANT-assoc_DNA-bd,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd	ENSG00000080603		0.557	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0	79	0	G	NM_006662		30718900	1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	36.73	30	18	SNP	1.000	T	T	30718900	G	T	30718900	3	4	54	1	0	0	0	0	1	0	0	0	15182	1087	38	2	514	2	SRCAP	16	30718900	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	182881	30718900	59635853	285	13579											
BRD7	29117	genome.wustl.edu	37	chr16	50402113	50402113	+	Frame_Shift_Del	DEL	A	A	-																															catgatcgtttttgtcttcgAagaggctggagtcgtgcccc																										TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:50402113delA	ENST00000394688.3	-	2	305	c.146delT	c.(145-147)ttcfs	p.F49fs	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Frame_Shift_Del_p.F49fs|RP11-21B23.1_ENST00000568427.1_RNA			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	49	Lys-rich.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTTGTCTTCGAAGAGGCTGGA	0.498																																																	0													140	148	145					16																	50402113		2198	4300	6498	SO:0001589	frameshift_variant	0			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.146delT	16.37:g.50402113delA	ENSP00000378180:p.Phe49fs		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Del	DEL	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.F49fs	ENST00000394688.3	37	c.146	CCDS10742.1	16																																																																																			BRD7	-	NULL	ENSG00000166164		0.498	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3		0	63	0	A	NM_013263		50402113	-1	tier1		no_errors	ENST00000394689	ensembl	human	known	74_37	frame_shift_del	23.08	20	6	DEL	1.000	-	-	50402113	A	-	50402113	7	5	54	1	0	1	0	1	0	0	0	0	1509	246	9	0	1876	0	BRD7	16	50402113	Frame_Shift_Del	DEL	A	TCGA-L5-A4OE-01A-11D-A27G-09	19683213	50402113	39952640	286	13580											
MMP2	4313	genome.wustl.edu	37	chr16	55513424	55513424	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcccggggcgcgctcacGggtcccctgagggcgctctg	3	6	17	15	5	2	1	1	1	1	0	3	1	3	1	3	5	0	2	3	5	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:55513424G>A	ENST00000219070.4	+	1	542	c.33G>A	c.(31-33)acG>acA	p.T11T	MMP2_ENST00000437642.2_5'Flank|MMP2_ENST00000543485.1_5'Flank|MMP2_ENST00000570308.1_Intron	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	11					angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GCGCGCTCACGGGTCCCCTGA	0.751																																																	0													7	8	8					16																	55513424		2161	4242	6403	SO:0001819	synonymous_variant	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.33G>A	16.37:g.55513424G>A			B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.T11	ENST00000219070.4	37	c.33	CCDS10752.1	16																																																																																			MMP2	-	NULL	ENSG00000087245		0.751	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	-	0	12	0	G			55513424	1	tier1	-	no_errors	ENST00000219070	ensembl	human	known	74_37	silent	66.67	3	6	SNP	0.000	A	A	55513424	G	A	55513424	2	1	54	1	0	0	0	0	0	0	0	1	9696	1103	39	1		1	MMP2	16	55513424	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	5111311	55513424	34841329	287	13581											
GPR56	9289	genome.wustl.edu	37	chr16	57691325	57691325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtgcacaagcactaccTgagcctcctctcctacgtgg	7	8	9	17	3	1	1	0	1	1	0	3	1	2	1	5	1	5	2	5	1	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:57691325T>C	ENST00000388812.4	+	10	1648	c.1208T>C	c.(1207-1209)cTg>cCg	p.L403P	GPR56_ENST00000379694.4_Missense_Mutation_p.L233P|GPR56_ENST00000568908.1_Missense_Mutation_p.L403P|GPR56_ENST00000538815.1_Missense_Mutation_p.L403P|GPR56_ENST00000562631.1_Missense_Mutation_p.L403P|GPR56_ENST00000567835.1_Missense_Mutation_p.L403P|GPR56_ENST00000379696.3_Missense_Mutation_p.L403P|GPR56_ENST00000562558.1_Missense_Mutation_p.L403P|GPR56_ENST00000568909.1_Missense_Mutation_p.L403P|GPR56_ENST00000456916.1_Missense_Mutation_p.L403P|GPR56_ENST00000540164.2_Missense_Mutation_p.L403P|GPR56_ENST00000388813.5_Missense_Mutation_p.L403P|GPR56_ENST00000544297.1_Missense_Mutation_p.L228P			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	403					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AAGCACTACCTGAGCCTCCTC	0.642																																																	0													176	148	158					16																	57691325		2198	4300	6498	SO:0001583	missense	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1208T>C	16.37:g.57691325T>C	ENSP00000373464:p.Leu403Pro		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.L403P	ENST00000388812.4	37	c.1208	CCDS32460.1	16	.	.	.	.	.	.	.	.	.	.	T	16.50	3.141568	0.57044	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.54279	0.79;0.58;0.79;0.58;0.79;0.58;0.58;0.58	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.47455	D	0.000232	T	0.76905	0.4053	M	0.91612	3.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.997	T	0.82232	-0.0559	10	0.87932	D	0	.	12.3048	0.54895	0.0:0.0:0.0:1.0	.	228;408;403;403;233	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	P	403;403;403;403;403;228;233;403	ENSP00000373465:L403P;ENSP00000373464:L403P;ENSP00000444415:L403P;ENSP00000398034:L403P;ENSP00000444911:L403P;ENSP00000438006:L228P;ENSP00000369016:L233P;ENSP00000369018:L403P	ENSP00000369016:L233P	L	+	2	0	GPR56	56248826	1.000000	0.71417	0.999000	0.59377	0.244000	0.25665	5.944000	0.70219	1.925000	0.55765	0.402000	0.26972	CTG	GPR56	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000205336		0.642	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	-	0	71	0	T			57691325	1	tier1	-	no_errors	ENST00000379696	ensembl	human	known	74_37	missense	27.87	44	17	SNP	1.000	C	C	57691325	T	C	57691325	3	2	54	1	0	0	0	0	1	0	0	0	6726	1580	55	4	1257	4	GPR56	16	57691325	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	2177901	57691325	32663428	288	13582											
DDX28	55794	genome.wustl.edu	37	chr16	68055808	68055808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agattcctaccctcatcaagGctggcatttgcccctgcaac	9	10	7	15	0	2	1	2	0	0	1	3	1	3	1	4	2	4	3	4	2	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:68055808G>T	ENST00000332395.5	-	1	1962	c.1298C>A	c.(1297-1299)gCc>gAc	p.A433D	DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'Flank|DUS2_ENST00000432752.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	433	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CCTCATCAAGGCTGGCATTTG	0.517																																																	0													101	94	96					16																	68055808		2198	4300	6498	SO:0001583	missense	0			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1298C>A	16.37:g.68055808G>T	ENSP00000332340:p.Ala433Asp			Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A433D	ENST00000332395.5	37	c.1298	CCDS10858.1	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215337	0.79352	.	.	ENSG00000182810	ENST00000332395	T	0.76186	-1.0	5.66	5.66	0.87406	Helicase, C-terminal (3);	0.054874	0.64402	D	0.000001	T	0.78710	0.4326	N	0.25201	0.72	0.58432	D	0.999999	D	0.63046	0.992	D	0.65140	0.932	T	0.80736	-0.1249	10	0.62326	D	0.03	-15.6995	19.3607	0.94436	0.0:0.0:1.0:0.0	.	433	Q9NUL7	DDX28_HUMAN	D	433	ENSP00000332340:A433D	ENSP00000332340:A433D	A	-	2	0	DDX28	66613309	1.000000	0.71417	0.997000	0.53966	0.620000	0.37586	7.438000	0.80431	2.675000	0.91044	0.557000	0.71058	GCC	DDX28	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000182810		0.517	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1		0	46	0	G	NM_018380		68055808	-1			no_errors	ENST00000332395	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	68055808	G	T	68055808	3	4	54	1	0	0	0	0	1	0	0	0	4364	1203	42	3	328	3	DDX28	16	68055808	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	10364483	68055808	22298945	289	13583											
CDH3	1001	genome.wustl.edu	37	chr16	68712425	68712425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagtctaataaagatagaGacaccaagattttctacagc	17	10	6	8	0	3	3	1	0	2	3	3	4	3	3	1	0	2	0	1	0	7	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:68712425G>C	ENST00000264012.4	+	5	956	c.412G>C	c.(412-414)Gac>Cac	p.D138H	CDH3_ENST00000581171.1_Missense_Mutation_p.D83H|CDH3_ENST00000429102.2_Missense_Mutation_p.D138H	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	138	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TAAAGATAGAGACACCAAGAT	0.488																																																	2	Unknown(2)	breast(2)											70	80	76					16																	68712425		2197	4299	6496	SO:0001583	missense	0			X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"Cadherins / Major cadherins"	1762	protein-coding gene	gene with protein product		114021	"cadherin 3, P-cadherin (placental)"			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.412G>C	16.37:g.68712425G>C	ENSP00000264012:p.Asp138His		B2R6F4|Q05DI6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D138H	ENST00000264012.4	37	c.412	CCDS10868.1	16	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884245	0.72410	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.49432	0.78;0.78	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.371565	0.19761	N	0.106673	T	0.49525	0.1562	N	0.25992	0.78	0.26403	N	0.976383	P	0.48911	0.917	P	0.52627	0.704	T	0.44283	-0.9338	10	0.46703	T	0.11	.	17.243	0.87019	0.0:0.0:1.0:0.0	.	138	P22223	CADH3_HUMAN	H	138;138;83	ENSP00000398485:D138H;ENSP00000264012:D138H	ENSP00000264012:D138H	D	+	1	0	CDH3	67269926	0.550000	0.26489	1.000000	0.80357	0.883000	0.51084	3.371000	0.52379	2.937000	0.99478	0.650000	0.86243	GAC	CDH3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000062038		0.488	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH3	HGNC	protein_coding	OTTHUMT00000268896.2	-	0	61	0	G	NM_001793		68712425	1	tier1	-	no_errors	ENST00000264012	ensembl	human	known	74_37	missense	54.84	14	17	SNP	1.000	C	C	68712425	G	C	68712425	3	2	54	1	0	0	0	0	1	0	0	0	3118	942	33	5	430	5	CDH3	16	68712425	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	656617	68712425	21642328	290	13584											
TAT	6898	genome.wustl.edu	37	chr16	71603806	71603806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggccggagtccagggatgGcagccaacgccccataacag	10	4	13	14	2	0	0	0	0	0	0	1	2	1	2	5	4	3	1	5	4	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr16:71603806G>T	ENST00000355962.4	-	10	1209	c.1076C>A	c.(1075-1077)gCc>gAc	p.A359D	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	359					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCCAGGGATGGCAGCCAACGC	0.483																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0													53	45	48					16																	71603806		2198	4300	6498	SO:0001583	missense	0				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.1076C>A	16.37:g.71603806G>T	ENSP00000348234:p.Ala359Asp		B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.A359D	ENST00000355962.4	37	c.1076	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030901	0.35797	.	.	ENSG00000198650	ENST00000355962	D	0.88201	-2.35	5.69	5.69	0.88448	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.264398	0.44285	D	0.000479	T	0.72787	0.3504	N	0.01091	-1.02	0.52099	D	0.999943	B	0.27068	0.167	B	0.27076	0.076	T	0.72475	-0.4282	10	0.10377	T	0.69	-13.902	19.8146	0.96562	0.0:0.0:1.0:0.0	.	359	P17735	ATTY_HUMAN	D	359	ENSP00000348234:A359D	ENSP00000348234:A359D	A	-	2	0	TAT	70161307	1.000000	0.71417	0.998000	0.56505	0.802000	0.45316	7.732000	0.84908	2.682000	0.91365	0.655000	0.94253	GCC	TAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	ENSG00000198650		0.483	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	-	0	29	0	G			71603806	-1	tier1	-	no_errors	ENST00000355962	ensembl	human	known	74_37	missense	44.44	5	4	SNP	1.000	T	T	71603806	G	T	71603806	3	4	54	1	0	0	0	0	1	0	0	0	15637	1203	42	3	300	3	TAT	16	71603806	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2891381	71603806	18750947	291	13585											
OR1G1	8390	genome.wustl.edu	37	chr17	3030174	3030174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgggatcttcaggatGgtcgagaaaacgttcgtgta	10	11	14	6	3	2	2	1	1	1	1	4	5	2	4	0	3	1	3	0	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:3030174G>T	ENST00000328890.2	-	1	701	c.672C>A	c.(670-672)acC>acA	p.T224T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	224					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TCTTCAGGATGGTCGAGAAAA	0.498																																					Colon(127;1481 1654 8243 19426 50557)												0													92	87	89					17																	3030174		2203	4300	6503	SO:0001819	synonymous_variant	0			U04689	CCDS11020.1	17p13.3	2012-08-09			ENSG00000183024	ENSG00000183024		"GPCR / Class A : Olfactory receptors"	8204	protein-coding gene	gene with protein product				OR1G2		8004088, 9500546	Standard	NM_003555		Approved	OR17-209	uc002fvc.1	P47890	OTTHUMG00000090618	ENST00000328890.2:c.672C>A	17.37:g.3030174G>T			Q4VBM1|Q6IFL9|Q9UM76	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T224	ENST00000328890.2	37	c.672	CCDS11020.1	17																																																																																			OR1G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183024		0.498	OR1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1G1	HGNC	protein_coding	OTTHUMT00000207206.2	-	0	48	0	G			3030174	-1	tier1	-	no_errors	ENST00000328890	ensembl	human	known	74_37	silent	33.33	14	7	SNP	0.000	T	T	3030174	G	T	3030174	2	4	54	1	0	0	0	0	0	0	0	1	10996	1335	47	3		3	OR1G1	17	3030174	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		3030174	78165036	292	13586											
KIF1C	10749	genome.wustl.edu	37	chr17	4926854	4926854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcagcccccagtgaccGcatgccgtcagcccggcccc	6	3	13	19	3	1	1	1	1	0	0	1	2	1	2	7	3	3	2	7	3	0	0	rs199975737		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:4926854G>A	ENST00000320785.5	+	23	3077	c.2720G>A	c.(2719-2721)cGc>cAc	p.R907H		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	907					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCCAGTGACCGCATGCCGTCA	0.662																																					Melanoma(96;1023 1447 10250 19259 33730)												0													32	32	32					17																	4926854		2203	4300	6503	SO:0001583	missense	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2720G>A	17.37:g.4926854G>A	ENSP00000320821:p.Arg907His		D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R907H	ENST00000320785.5	37	c.2720	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	g	3.019	-0.202246	0.06219	.	.	ENSG00000129250	ENST00000320785	T	0.73897	-0.79	4.89	-8.76	0.00830	.	.	.	.	.	T	0.41903	0.1179	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	9	0.12103	T	0.63	.	4.5549	0.12131	0.5351:0.0949:0.267:0.103	.	907	O43896	KIF1C_HUMAN	H	907	ENSP00000320821:R907H	ENSP00000320821:R907H	R	+	2	0	KIF1C	4867578	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.737000	0.04877	-1.357000	0.02180	-1.966000	0.00469	CGC	KIF1C	-	NULL	ENSG00000129250		0.662	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	HGNC	protein_coding	OTTHUMT00000216916.1	-	0	45	0	G			4926854	1	tier1	-	no_errors	ENST00000320785	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.000	A	A	4926854	G	A	4926854	3	1	54	1	0	0	0	0	1	0	0	0	8312	1087	38	1	2802	1	KIF1C	17	4926854	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1896680	4926854	76268356	293	13587											
TP53	7157	genome.wustl.edu	37	chr17	7578401	7578401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagcagcgctcatggtgggGgcagcgcctcacaacctccg	7	6	14	14	3	2	1	2	1	0	0	3	1	3	1	3	3	4	3	3	3	1	0	rs147002414		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:7578401G>A	ENST00000269305.4	-	5	718	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	TP53_ENST00000359597.4_Missense_Mutation_p.P177S|TP53_ENST00000413465.2_Missense_Mutation_p.P177S|TP53_ENST00000420246.2_Missense_Mutation_p.P177S|TP53_ENST00000455263.2_Missense_Mutation_p.P177S|TP53_ENST00000445888.2_Missense_Mutation_p.P177S|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P177_C182delPHHERC(8)|p.0?(8)|p.P177S(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.H178fs*69(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.P177fs*4(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCATGGTGGGGGCAGCGCCTC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	65	Deletion - Frameshift(23)|Deletion - In frame(20)|Substitution - Missense(10)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	large_intestine(11)|upper_aerodigestive_tract(10)|breast(10)|oesophagus(6)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|ovary(3)|lung(2)|liver(2)|prostate(2)|thyroid(1)|stomach(1)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|pancreas(1)											48	48	48					17																	7578401		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.529C>T	17.37:g.7578401G>A	ENSP00000269305:p.Pro177Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P177S	ENST00000269305.4	37	c.529	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.327329	0.95708	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052869	0.85682	D	0.000000	D	0.99902	0.9953	M	0.90082	3.085	0.80722	D	1	D;D;P;D;D;D;D	0.89917	0.998;0.993;0.747;1.0;0.995;0.995;0.993	D;D;P;D;D;D;D	0.81914	0.964;0.958;0.497;0.995;0.964;0.975;0.941	D	0.96424	0.9314	10	0.87932	D	0	-24.4396	17.4784	0.87667	0.0:0.0:1.0:0.0	.	138;177;177;84;177;177;177	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	177;177;177;177;177;177;166;84;45;84;45	ENSP00000410739:P177S;ENSP00000352610:P177S;ENSP00000269305:P177S;ENSP00000398846:P177S;ENSP00000391127:P177S;ENSP00000391478:P177S;ENSP00000425104:P45S;ENSP00000423862:P84S	ENSP00000269305:P177S	P	-	1	0	TP53	7519126	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CCC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	397	0	G	NM_000546		7578401	-1	tier1	rs147002414	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	46.38	148	128	SNP	1.000	A	A	7578401	G	A	7578401	3	1	54	1	0	0	0	0	1	0	0	0	16429	1232	43	3	769	3	TP53	17	7578401	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2651547	7578401	73616809	294	13588											
ALOX12B	242	genome.wustl.edu	37	chr17	7976605	7976605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggattccgcatggacgctGggaagttgggcatccaggcg	7	8	17	9	3	0	0	0	0	0	0	2	3	2	3	2	5	0	4	2	5	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:7976605G>T	ENST00000319144.4	-	14	2047	c.1787C>A	c.(1786-1788)cCa>cAa	p.P596Q	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	596	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CATGGACGCTGGGAAGTTGGG	0.587										Multiple Myeloma(8;0.094)																																							0													176	169	171					17																	7976605		2203	4300	6503	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1787C>A	17.37:g.7976605G>T	ENSP00000315167:p.Pro596Gln			Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.P596Q	ENST00000319144.4	37	c.1787	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876619	0.91664	.	.	ENSG00000179477	ENST00000319144	D	0.97731	-4.51	5.09	5.09	0.68999	Lipoxygenase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.99293	1.0899	10	0.87932	D	0	-20.554	17.2725	0.87106	0.0:0.0:1.0:0.0	.	596	O75342	LX12B_HUMAN	Q	596	ENSP00000315167:P596Q	ENSP00000315167:P596Q	P	-	2	0	ALOX12B	7917330	1.000000	0.71417	0.930000	0.37139	0.929000	0.56500	8.830000	0.92063	2.380000	0.81148	0.557000	0.71058	CCA	ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179477		0.587	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	-	0	57	0	G			7976605	-1	tier1	-	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	48.65	19	18	SNP	1.000	T	T	7976605	G	T	7976605	3	4	54	1	0	0	0	0	1	0	0	0	537	1348	47	3	326	3	ALOX12B	17	7976605	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	398204	7976605	73218605	295	13589											
RPL26	6154	genome.wustl.edu	37	chr17	8280943	8280943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcctttcctacttggCgagatttggctttccgttcg	3	18	8	12	3	0	1	0	0	0	1	4	2	3	1	4	2	1	2	4	2	1	8			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:8280943C>T	ENST00000584164.1	-	4	768	c.377G>A	c.(376-378)cGc>cAc	p.R126H	RPL26_ENST00000293842.5_Missense_Mutation_p.R126H|RPL26_ENST00000582556.1_Missense_Mutation_p.R126H|RP11-849F2.5_ENST00000585181.1_RNA|RP11-849F2.5_ENST00000579904.1_RNA|RP11-849F2.7_ENST00000582471.1_Intron|RPL26_ENST00000585176.1_5'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RPL26_ENST00000583011.1_Missense_Mutation_p.R126H|KRBA2_ENST00000396267.1_5'Flank			P61254	RL26_HUMAN	ribosomal protein L26	126					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			skin(1)|urinary_tract(1)	2						TCCTACTTGGCGAGATTTGGC	0.378																																																	0													90	95	94					17																	8280943		2203	4299	6502	SO:0001583	missense	0				CCDS11142.1	17p13	2011-04-06			ENSG00000161970	ENSG00000161970		"L ribosomal proteins"	10327	protein-coding gene	gene with protein product		603704				8479925	Standard	XM_005256749		Approved	L26	uc002glh.1	P61254	OTTHUMG00000108191	ENST00000584164.1:c.377G>A	17.37:g.8280943C>T	ENSP00000463784:p.Arg126His		B2R4F0|D3DTR8|Q02877|Q6IPY2	Missense_Mutation	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.R126H	ENST00000584164.1	37	c.377	CCDS11142.1	17	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525514	0.64860	.	.	ENSG00000161970	ENST00000293842	.	.	.	4.41	4.41	0.53225	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.178982	0.48286	N	0.000199	T	0.57227	0.2039	L	0.50919	1.6	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.58679	-0.7594	9	0.56958	D	0.05	.	14.8643	0.70404	0.0:1.0:0.0:0.0	.	126	P61254	RL26_HUMAN	H	126	.	ENSP00000293842:R126H	R	-	2	0	RPL26	8221668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.972000	0.70448	2.152000	0.67230	0.585000	0.79938	CGC	RPL26	-	superfamily_Translation_prot_SH3-like	ENSG00000161970		0.378	RPL26-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26	HGNC	protein_coding	OTTHUMT00000442322.1		0	59	0	C	NM_000987		8280943	-1			no_errors	ENST00000293842	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	8280943	C	T	8280943	3	4	54	1	0	0	0	0	1	0	0	0	13618	768	27	1	64	1	RPL26	17	8280943	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	304338	8280943	72914267	296	13590											
MYH1	4619	genome.wustl.edu	37	chr17	10402365	10402365	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgcccctcgagagctGtgaaactagtgtgtcctttt	6	16	10	9	1	0	2	0	1	0	1	2	3	1	2	3	0	3	2	3	0	2	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:10402365G>A	ENST00000226207.5	-	29	4004	c.3910C>T	c.(3910-3912)Cag>Tag	p.Q1304*	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1304					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCGAGAGCTGTGAAACTAGT	0.403																																																	0													186	173	178					17																	10402365		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3910C>T	17.37:g.10402365G>A	ENSP00000226207:p.Gln1304*		Q14CA4|Q9Y622	Nonsense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1304*	ENST00000226207.5	37	c.3910	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.632261	0.98399	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.36	5.36	0.76844	.	0.000000	0.41194	U	0.000936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4571	0.94897	0.0:0.0:1.0:0.0	.	.	.	.	X	1304	.	ENSP00000226207:Q1304X	Q	-	1	0	MYH1	10343090	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	9.779000	0.99018	2.690000	0.91761	0.655000	0.94253	CAG	MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.403	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	69	0	G	NM_005963		10402365	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	A	A	10402365	G	A	10402365	4	1	54	1	0	0	0	0	0	1	0	0	10067	1386	48	3	1957	3	MYH1	17	10402365	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2121422	10402365	70792845	297	13591											
ADAP2	55803	genome.wustl.edu	37	chr17	29283354	29283354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatccgaggaaatcgctgGaaagccggactcaccattgt	11	7	12	11	3	1	0	1	0	0	0	3	4	2	3	3	4	1	2	3	4	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:29283354G>T	ENST00000330889.3	+	10	1313	c.978G>T	c.(976-978)tgG>tgT	p.W326C	AC091177.1_ENST00000442757.1_RNA|ADAP2_ENST00000580525.1_Missense_Mutation_p.W332C	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	326	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAAATCGCTGGAAAGCCGGAC	0.557																																																	1	Unknown(1)	central_nervous_system(1)											86	74	78					17																	29283354		2203	4300	6503	SO:0001583	missense	0			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.978G>T	17.37:g.29283354G>T	ENSP00000329468:p.Trp326Cys		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP	p.W326C	ENST00000330889.3	37	c.978	CCDS11261.1	17	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700929	0.48307	.	.	ENSG00000184060	ENST00000330889	T	0.24723	1.84	4.94	4.94	0.65067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.053790	0.85682	D	0.000000	T	0.52853	0.1760	M	0.82323	2.585	0.80722	D	1	D;D;D	0.69078	0.997;0.994;0.995	D;D;D	0.67900	0.94;0.938;0.954	T	0.56926	-0.7898	10	0.52906	T	0.07	.	15.7019	0.77549	0.0:0.0:1.0:0.0	.	332;325;326	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	C	326	ENSP00000329468:W326C	ENSP00000329468:W326C	W	+	3	0	ADAP2	26307480	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.595000	0.74109	2.568000	0.86640	0.462000	0.41574	TGG	ADAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000184060		0.557	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	-	0	45	0	G	NM_018404		29283354	1	tier1	-	no_errors	ENST00000330889	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	T	T	29283354	G	T	29283354	3	4	54	1	0	0	0	0	1	0	0	0	280	1183	41	3	1016	3	ADAP2	17	29283354	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	18880989	29283354	51911856	298	13592											
OMG	4974	genome.wustl.edu	37	chr17	29622474	29622474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggttgagttaccacactCagagagttaatggtgtccac	10	12	11	8	0	1	2	1	1	0	1	2	3	2	2	2	2	1	3	2	2	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:29622474C>T	ENST00000247271.4	-	2	1137	c.876G>A	c.(874-876)ctG>ctA	p.L292L	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	292					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTACCACACTCAGAGAGTTAA	0.413																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											222	192	202					17																	29622474		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.876G>A	17.37:g.29622474C>T			E1P659	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L292	ENST00000247271.4	37	c.876	CCDS11265.1	17																																																																																			OMG	-	NULL	ENSG00000126861		0.413	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	HGNC	protein_coding	OTTHUMT00000256350.2	-	0	84	0	C	NM_002544		29622474	-1	tier1	-	no_errors	ENST00000247271	ensembl	human	known	74_37	silent	31.58	52	24	SNP	1.000	T	T	29622474	C	T	29622474	2	4	54	1	0	0	0	0	0	0	0	1	10905	813	29	3		3	OMG	17	29622474	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	339120	29622474	51572736	299	13593											
ACCN1	40	genome.wustl.edu	37	chr17	31415904	31415904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctcctgtgtggccacaaAggtctggaaccctggagcca	8	8	12	13	0	1	0	0	0	1	0	2	2	2	2	4	4	3	1	4	4	2	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:31415904A>G	ENST00000359872.6	-	3	1572	c.811T>C	c.(811-813)Ttt>Ctt	p.F271L	ASIC2_ENST00000225823.2_Missense_Mutation_p.F322L|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	271					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GTGGCCACAAAGGTCTGGAAC	0.567																																																	0													55	54	54					17																	31415904		2203	4300	6503	SO:0001583	missense	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.811T>C	17.37:g.31415904A>G	ENSP00000352934:p.Phe271Leu		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.F322L	ENST00000359872.6	37	c.964	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691349	0.68271	.	.	ENSG00000108684	ENST00000225823;ENST00000359872;ENST00000448983	T;T	0.64991	-0.13;-0.13	5.48	5.48	0.80851	.	0.056156	0.64402	D	0.000001	T	0.67316	0.2880	L	0.60012	1.86	0.58432	D	0.999999	P;P	0.51791	0.948;0.548	P;P	0.52481	0.618;0.7	T	0.61486	-0.7053	10	0.22706	T	0.39	-5.2457	13.501	0.61454	1.0:0.0:0.0:0.0	.	271;322	Q16515;E9PBX2	ACCN1_HUMAN;.	L	322;271;77	ENSP00000225823:F322L;ENSP00000352934:F271L	ENSP00000225823:F322L	F	-	1	0	ACCN1	28440017	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	9.277000	0.95755	0.569000	0.29329	-0.339000	0.08088	TTT	ASIC2	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000108684		0.567	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	-	0	39	0	A	NM_183377, NM_001094		31415904	-1	tier1	-	no_errors	ENST00000225823	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	G	G	31415904	A	G	31415904	3	3	54	1	0	0	0	0	1	0	0	0	128	72	3	4	759	4	ACCN1	17	31415904	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	1793430	31415904	49779306	300	13594											
GAS2L2	246176	genome.wustl.edu	37	chr17	34072962	34072962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttgtagcaccaggaaaGctccttcctggtgttggggg	7	10	13	11	0	0	0	0	0	0	0	2	1	2	1	4	4	2	4	4	4	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:34072962G>T	ENST00000254466.6	-	6	1581	c.1554C>A	c.(1552-1554)agC>agA	p.S518R	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S502R	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	518					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCAGGAAAGCTCCTTCCTG	0.622																																																	0													39	44	42					17																	34072962		2203	4300	6503	SO:0001583	missense	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1554C>A	17.37:g.34072962G>T	ENSP00000254466:p.Ser518Arg		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S518R	ENST00000254466.6	37	c.1554	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433175	0.25813	.	.	ENSG00000132139	ENST00000254466	T	0.23950	1.88	4.5	-1.95	0.07548	.	1.241570	0.05432	N	0.546207	T	0.16557	0.0398	L	0.27053	0.805	0.09310	N	1	B	0.34015	0.435	B	0.28305	0.088	T	0.28235	-1.0050	10	0.35671	T	0.21	-2.9991	9.5328	0.39205	0.5202:0.0:0.4798:0.0	.	518	Q8NHY3	GA2L2_HUMAN	R	518	ENSP00000254466:S518R	ENSP00000254466:S518R	S	-	3	2	GAS2L2	31097075	0.000000	0.05858	0.003000	0.11579	0.075000	0.17131	0.042000	0.13949	-0.298000	0.08921	0.655000	0.94253	AGC	GAS2L2	-	NULL	ENSG00000132139		0.622	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0	67	0	G	NM_139285		34072962	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.000	T	T	34072962	G	T	34072962	3	4	54	1	0	0	0	0	1	0	0	0	6272	962	34	3	1092	3	GAS2L2	17	34072962	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2657058	34072962	47122248	301	13595											
SRCIN1	80725	genome.wustl.edu	37	chr17	36704897	36704897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctcagacacagcccggcGcagcttcacctggggcttct	7	7	10	17	2	3	1	2	0	1	1	3	1	3	1	3	3	2	3	3	3	0	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:36704897G>A	ENST00000264659.7	-	17	3390	c.3166C>T	c.(3166-3168)Cgc>Tgc	p.R1056C	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R1090C|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	928					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACAGCCCGGCGCAGCTTCACC	0.652																																																	0													44	51	48					17																	36704897		2120	4224	6344	SO:0001583	missense	0				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3166C>T	17.37:g.36704897G>A	ENSP00000264659:p.Arg1056Cys		Q75T46|Q8N4W8	Missense_Mutation	SNP	pfam_AIP3_C	p.R1056C	ENST00000264659.7	37	c.3166	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256393	0.80246	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.42513	0.97	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	L	0.55481	1.735	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63386	-0.6649	10	0.62326	D	0.03	-20.7892	17.195	0.86891	0.0:0.0:1.0:0.0	.	928;928;1056	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	C	1056;837;910	ENSP00000264659:R1056C	ENSP00000264659:R1056C	R	-	1	0	SRCIN1	33958423	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.009000	0.49552	2.351000	0.79841	0.462000	0.41574	CGC	SRCIN1	-	NULL	ENSG00000017373		0.652	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	-	0	37	0	G	NM_025248		36704897	-1	tier1	-	no_errors	ENST00000264659	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	A	A	36704897	G	A	36704897	3	1	54	1	0	0	0	0	1	0	0	0	15183	1087	38	1	397	1	SRCIN1	17	36704897	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2631935	36704897	44490313	302	13596											
PLXDC1	57125	genome.wustl.edu	37	chr17	37243872	37243872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcactcggcaatggggTgaactccacggccgacatgc	9	7	11	14	3	1	1	1	1	0	0	3	2	2	1	2	4	3	1	2	4	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:37243872T>C	ENST00000315392.4	-	8	1106	c.895A>G	c.(895-897)Acc>Gcc	p.T299A	PLXDC1_ENST00000444911.2_Missense_Mutation_p.T259A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.T226A|PLXDC1_ENST00000394316.2_Missense_Mutation_p.T299A	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	299					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCAATGGGGTGAACTCCACG	0.557																																																	0													97	73	81					17																	37243872		2203	4300	6503	SO:0001583	missense	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.895A>G	17.37:g.37243872T>C	ENSP00000323927:p.Thr299Ala		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.T299A	ENST00000315392.4	37	c.895	CCDS11333.1	17	.	.	.	.	.	.	.	.	.	.	T	13.29	2.194353	0.38806	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	6.04	6.04	0.98038	.	0.171992	0.49916	D	0.000125	T	0.73442	0.3587	L	0.53729	1.69	0.39609	D	0.969852	B;B	0.14438	0.01;0.001	B;B	0.12156	0.007;0.001	T	0.70142	-0.4953	10	0.42905	T	0.14	-36.9684	12.9681	0.58497	0.0:0.0:0.0:1.0	.	259;299	B4E173;Q8IUK5	.;PXDC1_HUMAN	A	299;226;226;259;299	ENSP00000323927:T299A;ENSP00000441881:T226A;ENSP00000409687:T259A;ENSP00000377851:T299A	ENSP00000323927:T299A	T	-	1	0	PLXDC1	34497398	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	1.536000	0.36072	2.317000	0.78254	0.459000	0.35465	ACC	PLXDC1	-	superfamily_Plexin-like_fold	ENSG00000161381		0.557	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	-	0	42	0	T	NM_020405		37243872	-1	tier1	-	no_errors	ENST00000315392	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	C	C	37243872	T	C	37243872	3	2	54	1	0	0	0	0	1	0	0	0	12156	1696	59	4	635	4	PLXDC1	17	37243872	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	538975	37243872	43951338	303	13597											
KRT39	390792	genome.wustl.edu	37	chr17	39115025	39115025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggggatgaggatgtgcaaGctggggccgtgctttctatg	7	10	18	6	1	1	1	0	1	1	0	1	3	1	3	1	5	3	3	1	5	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:39115025G>T	ENST00000355612.2	-	7	1339	c.1304C>A	c.(1303-1305)gCt>gAt	p.A435D	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	435	Tail.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGATGTGCAAGCTGGGGCCGT	0.532																																																	0													93	88	90					17																	39115025		2203	4296	6499	SO:0001583	missense	0			AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"-", "Intermediate filaments type I, keratins (acidic)"	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1304C>A	17.37:g.39115025G>T	ENSP00000347823:p.Ala435Asp		B2RXK6|Q6IFU6	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.A435D	ENST00000355612.2	37	c.1304	CCDS11382.1	17	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535781	0.27475	.	.	ENSG00000196859	ENST00000355612	D	0.82711	-1.64	5.43	0.834	0.18880	.	0.446120	0.16613	N	0.206815	T	0.65923	0.2738	L	0.29908	0.895	0.09310	N	1	B	0.31519	0.327	B	0.16722	0.016	T	0.50355	-0.8838	10	0.21014	T	0.42	.	7.1613	0.25664	0.6164:0.0:0.3836:0.0	.	435	Q6A163	K1C39_HUMAN	D	435	ENSP00000347823:A435D	ENSP00000347823:A435D	A	-	2	0	KRT39	36368551	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	-0.598000	0.05706	0.377000	0.24735	-0.302000	0.09304	GCT	KRT39	-	NULL	ENSG00000196859		0.532	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT39	HGNC	protein_coding	OTTHUMT00000257287.1	-	0	75	0	G	NM_213656		39115025	-1	tier1	-	no_errors	ENST00000355612	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.003	T	T	39115025	G	T	39115025	3	4	54	1	0	0	0	0	1	0	0	0	8503	971	34	3	175	3	KRT39	17	39115025	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1871153	39115025	42080185	304	13598											
KRTAP1-3	81850	genome.wustl.edu	37	chr17	39190928	39190928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcccactagttgagaagCtaggaaatccgcagaagctg	13	7	12	9	1	0	2	0	1	0	2	2	4	2	3	2	2	2	4	2	2	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:39190928C>A	ENST00000344363.5	-	1	179	c.146G>T	c.(145-147)aGc>aTc	p.S49I		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	59			Missing (in allele KAP1.1). {ECO:0000269|PubMed:11279113, ECO:0000269|PubMed:12228244, ECO:0000269|PubMed:15489334}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGTTGAGAAGCTAGGAAATCC	0.622																																																	0													54	59	57					17																	39190928		1957	4165	6122	SO:0001583	missense	0			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"Keratin associated proteins"	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.146G>T	17.37:g.39190928C>A	ENSP00000344420:p.Ser49Ile		Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	pfam_Keratin-assoc	p.S49I	ENST00000344363.5	37	c.146	CCDS42323.1	17	.	.	.	.	.	.	.	.	.	.	C	8.436	0.849775	0.17034	.	.	ENSG00000221880	ENST00000344363	T	0.32515	1.45	1.48	1.48	0.22813	.	.	.	.	.	T	0.31888	0.0811	.	.	.	0.29102	N	0.881394	D	0.59357	0.985	P	0.48815	0.591	T	0.19549	-1.0302	8	0.56958	D	0.05	.	6.8157	0.23829	0.0:1.0:0.0:0.0	.	59	Q8IUG1	KRA13_HUMAN	I	49	ENSP00000344420:S49I	ENSP00000344420:S49I	S	-	2	0	KRTAP1-3	36444454	0.591000	0.26824	0.036000	0.18154	0.249000	0.25844	1.202000	0.32271	0.713000	0.32060	0.467000	0.42956	AGC	KRTAP1-3	-	pfam_Keratin-assoc	ENSG00000221880		0.622	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-3	HGNC	protein_coding	OTTHUMT00000257687.1	-	0	167	0	C			39190928	-1	tier1	-	no_errors	ENST00000344363	ensembl	human	known	74_37	missense	22.06	105	30	SNP	0.758	A	A	39190928	C	A	39190928	3	1	54	1	0	0	0	0	1	0	0	0	8530	797	28	3	361	3	KRTAP1-3	17	39190928	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	75903	39190928	42004282	305	13599											
STAT3	6774	genome.wustl.edu	37	chr17	40485740	40485740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgacgaggggccggtCaggatgcatgggcatgcagg	8	7	18	8	2	1	2	1	2	0	0	1	4	1	3	1	6	2	3	1	6	0	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:40485740C>A	ENST00000264657.5	-	10	1312	c.1000G>T	c.(1000-1002)Gac>Tac	p.D334Y	STAT3_ENST00000404395.3_Missense_Mutation_p.D334Y|STAT3_ENST00000389272.3_Missense_Mutation_p.D236Y|STAT3_ENST00000588969.1_Missense_Mutation_p.D334Y|STAT3_ENST00000585517.1_Missense_Mutation_p.D334Y	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	334					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGGGGCCGGTCAGGATGCATG	0.577									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													75	68	70					17																	40485740		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1000G>T	17.37:g.40485740C>A	ENSP00000264657:p.Asp334Tyr		A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.D334Y	ENST00000264657.5	37	c.1000	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122512	0.77436	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88354	-2.37;-2.37;-2.37	5.41	5.41	0.78517	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91061	0.7187	N	0.22421	0.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.92438	0.5959	10	0.72032	D	0.01	-29.4723	19.1988	0.93701	0.0:1.0:0.0:0.0	.	334;334;334	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	Y	334;236;334	ENSP00000264657:D334Y;ENSP00000373923:D236Y;ENSP00000384943:D334Y	ENSP00000264657:D334Y	D	-	1	0	STAT3	37739266	0.999000	0.42202	0.961000	0.40146	0.863000	0.49368	3.974000	0.56852	2.531000	0.85337	0.655000	0.94253	GAC	STAT3	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000168610		0.577	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	-	0	46	0	C	NM_139276, NM_003150		40485740	-1	tier1	-	no_errors	ENST00000264657	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.995	A	A	40485740	C	A	40485740	3	1	54	1	0	0	0	0	1	0	0	0	15313	826	29	3	1372	3	STAT3	17	40485740	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1294812	40485740	40709470	306	13600											
HSD17B1	3292	genome.wustl.edu	37	chr17	40706597	40706597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccctgaggaggtggcGgaggtgagcgccgggctgga	8	4	20	9	3	0	3	0	2	0	1	0	6	0	6	2	7	2	1	2	7	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:40706597G>A	ENST00000585807.1	+	5	4434	c.714G>A	c.(712-714)gcG>gcA	p.A238A	HSD17B1_ENST00000225929.5_Silent_p.A239A|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	238			A -> V. {ECO:0000269|PubMed:8389226}.		bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	AGGAGGTGGCGGAGGTGAGCG	0.687																																																	0													38	31	33					17																	40706597		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.714G>A	17.37:g.40706597G>A			B3KXS1|Q2M2L8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.A238	ENST00000585807.1	37	c.714	CCDS11428.1	17																																																																																			HSD17B1	-	pirsf_17beta_DH	ENSG00000108786		0.687	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	HGNC	protein_coding	OTTHUMT00000450392.1	-	0	39	0	G	NM_000413		40706597	1	tier1	-	no_errors	ENST00000585807	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.000	A	A	40706597	G	A	40706597	2	1	54	1	0	0	0	0	0	0	0	1	7405	1103	39	1		1	HSD17B1	17	40706597	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	220857	40706597	40488613	307	13601											
MYCBPAP	84073	genome.wustl.edu	37	chr17	48598572	48598572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagaatcatggaagagctgGatttcagccagcaggttggt	12	9	14	6	0	2	2	2	0	0	2	2	5	2	4	1	4	3	3	1	4	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:48598572G>T	ENST00000323776.5	+	8	1309	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.D346Y	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGAAGAGCTGGATTTCAGCCA	0.547																																																	0													78	67	71					17																	48598572		2203	4300	6503	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1147G>T	17.37:g.48598572G>T	ENSP00000323184:p.Asp383Tyr			Missense_Mutation	SNP	NULL	p.D383Y	ENST00000323776.5	37	c.1147	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509366	0.44660	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.43688	0.94;0.94	5.43	2.34	0.29019	.	0.353770	0.27572	N	0.018768	T	0.56247	0.1972	M	0.74258	2.255	0.38415	D	0.946026	D;D	0.76494	0.999;0.999	D;D	0.65874	0.939;0.939	T	0.56306	-0.8001	10	0.54805	T	0.06	-3.5989	6.4159	0.21715	0.2109:0.1313:0.6578:0.0	.	346;383	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	Y	383;346	ENSP00000323184:D383Y;ENSP00000397209:D346Y	ENSP00000323184:D383Y	D	+	1	0	MYCBPAP	45953571	0.968000	0.33430	0.370000	0.25965	0.524000	0.34500	2.152000	0.42272	0.273000	0.22049	0.549000	0.68633	GAT	MYCBPAP	-	NULL	ENSG00000136449		0.547	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	-	0	50	0	G	NM_032133		48598572	1	tier1	-	no_errors	ENST00000323776	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.802	T	T	48598572	G	T	48598572	3	4	54	1	0	0	0	0	1	0	0	0	10057	1174	41	3	1177	3	MYCBPAP	17	48598572	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7891975	48598572	32596638	308	13602											
BRIP1	83990	genome.wustl.edu	37	chr17	59934422	59934422	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaaaatataaattaccttGacaagttgatgaagtgccat	16	11	8	6	0	0	3	0	3	0	0	0	3	0	3	2	1	2	2	2	1	8	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:59934422G>A	ENST00000259008.2	-	4	643	c.376C>T	c.(376-378)Caa>Taa	p.Q126*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.Q126*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	126	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AAATTACCTTGACAAGTTGAT	0.333			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													224	205	211					17																	59934422		2203	4300	6503	SO:0001587	stop_gained	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.376C>T	17.37:g.59934422G>A	ENSP00000259008:p.Gln126*		Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.Q126*	ENST00000259008.2	37	c.376	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400831	0.62177	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.24	4.26	0.50523	.	0.894273	0.09811	N	0.752798	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5852	0.50914	0.0:0.0:0.8215:0.1785	.	.	.	.	X	126	.	.	Q	-	1	0	BRIP1	57289204	1.000000	0.71417	0.988000	0.46212	0.136000	0.21042	3.227000	0.51262	1.324000	0.45282	-0.175000	0.13238	CAA	BRIP1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3	ENSG00000136492		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	-	0	108	0	G	NM_032043		59934422	-1	tier1	-	no_errors	ENST00000259008	ensembl	human	known	74_37	nonsense	36.36	42	24	SNP	0.986	A	A	59934422	G	A	59934422	4	1	54	1	0	0	0	0	0	1	0	0	1518	1299	45	3	3441	3	BRIP1	17	59934422	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	11335850	59934422	21260788	309	13603											
INTS2	57508	genome.wustl.edu	37	chr17	59958388	59958388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggagttgtttgggaGaatgatttttagcattatta	9	19	10	3	0	1	2	0	1	1	1	1	4	1	3	0	2	1	3	0	2	4	9			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:59958388G>T	ENST00000444766.3	-	17	2333	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y	INTS2_ENST00000251334.6_Missense_Mutation_p.S745Y	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	753					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTGTTTGGGAGAATGATTTTT	0.368																																																	0													103	98	99					17																	59958388		1864	4090	5954	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"KIAA1287"	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2258C>A	17.37:g.59958388G>T	ENSP00000414237:p.Ser753Tyr		Q9ULD3	Missense_Mutation	SNP	NULL	p.S753Y	ENST00000444766.3	37	c.2258	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196359	0.78902	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.49720	0.77	5.63	5.63	0.86233	.	0.101717	0.64402	D	0.000002	T	0.60353	0.2262	L	0.55990	1.75	0.58432	D	0.999999	D	0.54207	0.965	P	0.56700	0.804	T	0.55995	-0.8052	9	.	.	.	-15.624	18.6515	0.91431	0.0:0.0:1.0:0.0	.	753	Q9H0H0	INT2_HUMAN	Y	753;752	ENSP00000414237:S753Y	.	S	-	2	0	INTS2	57313170	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.875000	0.75551	2.636000	0.89361	0.557000	0.71058	TCT	INTS2	-	NULL	ENSG00000108506		0.368	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	-	0	46	0	G	NM_020748		59958388	-1	tier1	-	no_errors	ENST00000444766	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	T	T	59958388	G	T	59958388	3	4	54	1	0	0	0	0	1	0	0	0	7805	942	33	3	1392	3	INTS2	17	59958388	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	23966	59958388	21236822	310	13604											
ERN1	2081	genome.wustl.edu	37	chr17	62131646	62131646	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacagctcgatggcaatGtactggaattgccggtcctt	9	10	11	11	2	0	0	0	0	0	0	2	2	1	1	2	3	3	4	2	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:62131646G>T	ENST00000433197.3	-	15	2012	c.1917C>A	c.(1915-1917)taC>taA	p.Y639*		NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGATGGCAATGTACTGGAATT	0.483																																																	0													61	59	59					17																	62131646		2018	4200	6218	SO:0001587	stop_gained	0			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"inositol-requiring enzyme 1"	604033	"ER to nucleus signalling 1"			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.1917C>A	17.37:g.62131646G>T	ENSP00000401445:p.Tyr639*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.Y639*	ENST00000433197.3	37	c.1917	CCDS45762.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.624098	0.97714	.	.	ENSG00000178607	ENST00000433197	.	.	.	5.49	3.49	0.39957	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.834	9.701	0.40187	0.2147:0.0:0.7853:0.0	.	.	.	.	X	639	.	ENSP00000401445:Y639X	Y	-	3	2	ERN1	59485378	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.100000	0.50275	1.324000	0.45282	0.655000	0.94253	TAC	ERN1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178607		0.483	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	HGNC	protein_coding	OTTHUMT00000443734.2		0	36	0	G	NM_001433		62131646	-1			no_errors	ENST00000433197	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	1.000	T	T	62131646	G	T	62131646	4	4	54	1	0	0	0	0	0	1	0	0	5253	1372	48	3	1048	3	ERN1	17	62131646	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2173258	62131646	19063564	311	13605											
PSMD12	5718	genome.wustl.edu	37	chr17	65337107	65337107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgataattcctgctaatCtgtctactttagcaaagatg	12	15	7	7	0	2	2	0	1	2	1	3	2	3	2	1	0	3	3	1	0	5	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:65337107C>A	ENST00000356126.3	-	11	1330	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	PSMD12_ENST00000357146.4_Missense_Mutation_p.R388I	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	408	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCCTGCTAATCTGTCTACTTT	0.358																																																	0													85	86	86					17																	65337107		2203	4299	6502	SO:0001583	missense	0			AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"Proteasome (prosome, macropain) subunits"	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1223G>T	17.37:g.65337107C>A	ENSP00000348442:p.Arg408Ile		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.R408I	ENST00000356126.3	37	c.1223	CCDS11669.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882098	0.91740	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.32753	1.44;1.44	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79405	-0.1817	10	0.87932	D	0	-16.2217	17.8938	0.88880	0.0:1.0:0.0:0.0	.	388;408	A6NP15;O00232	.;PSD12_HUMAN	I	408;388	ENSP00000348442:R408I;ENSP00000349667:R388I	ENSP00000348442:R408I	R	-	2	0	PSMD12	62767569	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.720000	0.68470	2.226000	0.72624	0.484000	0.47621	AGA	PSMD12	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000197170		0.358	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD12	HGNC	protein_coding	OTTHUMT00000277103.1	-	0	79	0	C	NM_002816, NM_174871		65337107	-1	tier1	-	no_errors	ENST00000356126	ensembl	human	known	74_37	missense	8.62	52	5	SNP	1.000	A	A	65337107	C	A	65337107	3	1	54	1	0	0	0	0	1	0	0	0	12737	913	32	3	151	3	PSMD12	17	65337107	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3205461	65337107	15858103	312	13606											
ATP5H	10476	genome.wustl.edu	37	chr17	73036203	73036203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacatcttctttttcttcgGcatccacctgggcagtatat	7	17	6	11	1	3	0	0	0	3	0	5	0	4	0	2	2	1	3	2	2	3	7			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:73036203G>A	ENST00000301587.4	-	4	322	c.275C>T	c.(274-276)gCc>gTc	p.A92V	ATP5H_ENST00000344546.4_Intron|KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron|RN7SL573P_ENST00000485340.2_RNA	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	92					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					TTTTTCTTCGGCATCCACCTG	0.413																																																	0													213	220	217					17																	73036203		2203	4300	6503	SO:0001583	missense	0			AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	845	protein-coding gene	gene with protein product			"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.275C>T	17.37:g.73036203G>A	ENSP00000301587:p.Ala92Val		B2R5L6|Q9H3J4	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt	p.A92V	ENST00000301587.4	37	c.275	CCDS11712.1	17	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909342	0.52439	.	.	ENSG00000167863	ENST00000538432;ENST00000301587	.	.	.	5.52	4.54	0.55810	.	0.221026	0.45606	D	0.000344	T	0.60261	0.2255	M	0.63843	1.955	0.80722	D	1	B	0.25272	0.122	B	0.17722	0.019	T	0.60505	-0.7250	9	0.54805	T	0.06	.	15.5832	0.76462	0.0:0.0:0.8614:0.1386	.	92	O75947	ATP5H_HUMAN	V	92	.	ENSP00000301587:A92V	A	-	2	0	ATP5H	70547798	1.000000	0.71417	0.996000	0.52242	0.720000	0.41350	2.161000	0.42358	1.304000	0.44892	0.563000	0.77884	GCC	ATP5H	-	pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt	ENSG00000167863		0.413	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5H	HGNC	protein_coding	OTTHUMT00000445318.1	-	0	41	0	G	NM_006356		73036203	-1	tier1	-	no_errors	ENST00000301587	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	73036203	G	A	73036203	3	1	54	1	0	0	0	0	1	0	0	0	1157	1203	42	3	222	3	ATP5H	17	73036203	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	7699096	73036203	8159007	313	13607											
UNC13D	201294	genome.wustl.edu	37	chr17	73830787	73830787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtacaccagggccaggCgacaggtgtcctagggtggg	8	6	17	10	1	0	0	0	0	0	0	1	1	1	0	3	5	2	2	3	5	2	2	rs143939013	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:73830787C>T	ENST00000207549.4	-	22	2382	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	UNC13D_ENST00000412096.2_Missense_Mutation_p.R668H	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	668	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGCCAGGCGACAGGTGTC	0.622									Familial Hemophagocytic Lymphohistiocytosis				C|||	2	0.000399361	8e-04	0.0014	5008	,	,		14179	0		0	False		,,,				2504	0																0								C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	26	30	29		2003	3.8	1	17	dbSNP_134	29	0,8598		0,0,4299	no	missense	UNC13D	NM_199242.2	29	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	668/1091	73830787	1,12999	2201	4299	6500	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2003G>A	17.37:g.73830787C>T	ENSP00000207549:p.Arg668His		B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R668H	ENST00000207549.4	37	c.2003	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.271393	0.80469	2.27E-4	0.0	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.80480	-1.38;-1.38	4.87	3.83	0.44106	Munc13 homology 1 (1);	0.073555	0.52532	D	0.000065	D	0.82999	0.5159	M	0.62723	1.935	0.43485	D	0.995712	D;D	0.71674	0.998;0.996	P;P	0.60609	0.877;0.563	T	0.83105	-0.0126	10	0.72032	D	0.01	5.5829	4.7052	0.12846	0.0:0.7811:0.0:0.2189	.	668;668	Q70J99-3;Q70J99	.;UN13D_HUMAN	H	668	ENSP00000207549:R668H;ENSP00000388093:R668H	ENSP00000207549:R668H	R	-	2	0	UNC13D	71342382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.834000	0.48167	2.518000	0.84900	0.563000	0.77884	CGC	UNC13D	-	NULL	ENSG00000092929		0.622	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	-	0	31	0	C	XM_113950		73830787	-1	tier1	rs143939013	no_errors	ENST00000412096	ensembl	human	known	74_37	missense	36.84	11	7	SNP	1.000	T	T	73830787	C	T	73830787	3	4	54	1	0	0	0	0	1	0	0	0	17036	768	27	1	1313	1	UNC13D	17	73830787	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	794584	73830787	7364423	314	13608											
MFSD11	79157	genome.wustl.edu	37	chr17	74772611	74772611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcatttgccatcttCaagtttgttcaggtaacctc	8	13	7	13	0	3	0	2	0	1	0	4	0	3	0	4	1	3	4	4	1	2	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:74772611C>A	ENST00000588460.1	+	12	3215	c.1173C>A	c.(1171-1173)ttC>ttA	p.F391L	MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Missense_Mutation_p.F339L|MFSD11_ENST00000355954.3_Missense_Mutation_p.F339L|MFSD11_ENST00000586622.1_Missense_Mutation_p.F391L|MFSD11_ENST00000336509.4_Missense_Mutation_p.F391L|MFSD11_ENST00000590514.1_Missense_Mutation_p.F391L	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	391						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTGCCATCTTCAAGTTTGTTC	0.438																																																	0													167	160	163					17																	74772611		2203	4300	6503	SO:0001583	missense	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1173C>A	17.37:g.74772611C>A	ENSP00000464932:p.Phe391Leu		O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.F391L	ENST00000588460.1	37	c.1173	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959190	0.74016	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	T;T	0.80393	-1.37;-1.37	5.43	0.371	0.16168	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.86045	0.5839	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.72075	0.947;0.976	D	0.83611	0.0134	10	0.72032	D	0.01	-22.0173	9.6884	0.40114	0.0:0.4927:0.0:0.5073	.	339;391	O43934-2;O43934	.;MFS11_HUMAN	L	391;339	ENSP00000337240:F391L;ENSP00000348225:F339L	ENSP00000337240:F391L	F	+	3	2	MFSD11	72284206	0.992000	0.36948	0.992000	0.48379	0.735000	0.41995	0.287000	0.18920	-0.258000	0.09446	0.563000	0.77884	TTC	MFSD11	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.438	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	-	0	90	0	C	NM_024311		74772611	1	tier1	-	no_errors	ENST00000336509	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	A	A	74772611	C	A	74772611	3	1	54	1	0	0	0	0	1	0	0	0	9567	825	29	3	1219	3	MFSD11	17	74772611	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	941824	74772611	6422599	315	13609											
CCDC40	55036	genome.wustl.edu	37	chr17	78058694	78058694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcaccaacagccagagCgagatctcccggcgcacgat	11	5	9	16	4	3	2	2	0	1	2	4	4	3	2	3	1	3	1	3	1	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:78058694C>A	ENST00000397545.4	+	13	2169	c.2142C>A	c.(2140-2142)agC>agA	p.S714R	CCDC40_ENST00000374877.3_Missense_Mutation_p.S714R	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	714					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACAGCCAGAGCGAGATCTCCC	0.592																																																	0													62	64	64					17																	78058694		2116	4232	6348	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2142C>A	17.37:g.78058694C>A	ENSP00000380679:p.Ser714Arg		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.S714R	ENST00000397545.4	37	c.2142	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021185	0.35701	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.46451	0.87;0.9	5.06	2.64	0.31445	.	.	.	.	.	T	0.30727	0.0774	L	0.43152	1.355	0.32858	D	0.507578	P;P	0.43973	0.729;0.823	B;B	0.40659	0.181;0.336	T	0.34104	-0.9842	9	0.22706	T	0.39	-31.1401	6.0124	0.19584	0.0:0.5599:0.0:0.4401	.	714;497	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	R	714	ENSP00000364011:S714R;ENSP00000380679:S714R	ENSP00000364011:S714R	S	+	3	2	CCDC40	75673289	0.001000	0.12720	0.909000	0.35828	0.941000	0.58515	-0.233000	0.09041	1.077000	0.40990	0.655000	0.94253	AGC	CCDC40	-	NULL	ENSG00000141519		0.592	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0	23	0	C	XM_371082		78058694	1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.553	A	A	78058694	C	A	78058694	3	1	54	1	0	0	0	0	1	0	0	0	2819	767	27	2	2192	2	CCDC40	17	78058694	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3286083	78058694	3136516	316	13610											
GAA	2548	genome.wustl.edu	37	chr17	78090818	78090818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccaccagctcctgtggggGgaggccctgctcatcacccc	6	6	12	17	0	2	0	2	0	0	0	3	2	3	1	6	4	2	2	6	4	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr17:78090818G>T	ENST00000302262.3	+	16	2460	c.2241G>T	c.(2239-2241)ggG>ggT	p.G747G	GAA_ENST00000390015.3_Silent_p.G747G	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	747					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	TCCTGTGGGGGGAGGCCCTGC	0.632																																																	0													69	66	67					17																	78090818		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2241G>T	17.37:g.78090818G>T			Q09GN4|Q14351|Q16302|Q8IWE7	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G747	ENST00000302262.3	37	c.2241	CCDS32760.1	17																																																																																			GAA	-	pfam_Glyco_hydro_31	ENSG00000171298		0.632	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0	50	0	G			78090818	1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.007	T	T	78090818	G	T	78090818	2	4	54	1	0	0	0	0	0	0	0	1	6171	1219	43	3		3	GAA	17	78090818	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	32124	78090818	3104392	317	13611											
LAMA1	284217	genome.wustl.edu	37	chr18	6965422	6965422	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaaacagctcgatggataAaaagtctttctgtaaaaaag	18	9	8	6	2	2	0	0	0	2	0	3	3	2	1	0	1	2	2	0	1	7	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr18:6965422A>G	ENST00000389658.3	-	50	7153	c.7060T>C	c.(7060-7062)Tta>Cta	p.L2354L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2354	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCGATGGATAAAAAGTCTTTC	0.443																																																	0													73	74	74					18																	6965422		2203	4300	6503	SO:0001819	synonymous_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7060T>C	18.37:g.6965422A>G				Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2354	ENST00000389658.3	37	c.7060	CCDS32787.1	18																																																																																			LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	49	0	A	NM_005559		6965422	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.977	G	G	6965422	A	G	6965422	2	3	54	1	0	0	0	0	0	0	0	1	8633	11	1	4		4	LAMA1	18	6965422	Silent	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09		6965422	71111826	318	13612											
KIAA0802	23255	genome.wustl.edu	37	chr18	8784602	8784602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggcctggcctccagggcGaagaggagcagggtgagggg	7	3	22	9	2	0	2	0	1	0	1	1	4	1	3	3	8	1	1	3	8	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr18:8784602G>A	ENST00000306329.11	+	5	2572	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	SOGA2_ENST00000400050.3_Missense_Mutation_p.E498K|SOGA2_ENST00000359865.3_Missense_Mutation_p.E498K|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.E498K																							CCTCCAGGGCGAAGAGGAGCA	0.657																																																	0													40	46	44					18																	8784602		2203	4300	6503	SO:0001583	missense	0																														ENST00000306329.11:c.2572G>A	18.37:g.8784602G>A	ENSP00000305027:p.Glu858Lys			Missense_Mutation	SNP	pfam_SOGA	p.E498K	ENST00000306329.11	37	c.1492		18	.	.	.	.	.	.	.	.	.	.	G	0.914	-0.718175	0.03182	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.40225	1.04;1.04;1.04	4.53	2.58	0.30949	.	3.021260	0.01575	N	0.020798	T	0.22085	0.0532	N	0.24115	0.695	0.19575	N	0.999968	P;B	0.40398	0.716;0.335	B;B	0.25614	0.058;0.062	T	0.25745	-1.0123	10	0.10636	T	0.68	.	4.4009	0.11386	0.0854:0.154:0.6018:0.1588	.	519;498	A8MQ54;Q9Y4B5-3	.;.	K	519;498;498;498	ENSP00000429556:E498K;ENSP00000352927:E498K;ENSP00000382924:E498K	ENSP00000305027:E519K	E	+	1	0	CCDC165	8774602	0.024000	0.19004	0.001000	0.08648	0.021000	0.10359	2.089000	0.41672	0.881000	0.35993	0.655000	0.94253	GAA	SOGA2	-	NULL	ENSG00000168502		0.657	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0	27	0	G			8784602	1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	43.48	13	10	SNP	0.001	A	A	8784602	G	A	8784602	3	1	54	1	0	0	0	0	1	0	0	0	8221	1059	37	1	1506	1	KIAA0802	18	8784602	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1819180	8784602	69292646	319	13613											
C18orf1	753	genome.wustl.edu	37	chr18	13438311	13438311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgtaaccaacagaacGactgtggggacaacagtgac	13	7	12	9	1	1	2	0	1	1	1	1	4	1	3	1	3	4	1	1	3	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr18:13438311G>T	ENST00000359446.5	+	3	577	c.109G>T	c.(109-111)Gac>Tac	p.D37Y	LDLRAD4_ENST00000361205.4_Missense_Mutation_p.D37Y|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.D37Y	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	37	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CCAACAGAACGACTGTGGGGA	0.507																																																	0													130	121	124					18																	13438311		2203	4300	6503	SO:0001583	missense	0			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"clone 22"	606571	"chromosome 18 open reading frame 1"	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.109G>T	18.37:g.13438311G>T	ENSP00000352420:p.Asp37Tyr		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	p.D37Y	ENST00000359446.5	37	c.109	CCDS32793.1	18	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374016	0.82573	.	.	ENSG00000168675	ENST00000361205;ENST00000399848	D;D	0.99042	-5.36;-5.36	5.22	5.22	0.72569	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000018	D	0.99429	0.9798	M	0.91459	3.21	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.70716	0.95;0.97	D	0.98662	1.0684	10	0.87932	D	0	-6.7555	18.7934	0.91983	0.0:0.0:1.0:0.0	.	37;37	O15165-2;O15165	.;CR001_HUMAN	Y	37	ENSP00000354753:D37Y;ENSP00000382741:D37Y	ENSP00000354753:D37Y	D	+	1	0	C18orf1	13428311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.309000	0.65774	2.447000	0.82792	0.655000	0.94253	GAC	LDLRAD4	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168675		0.507	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1		0	31	0	G	NM_181481		13438311	1			no_errors	ENST00000359446	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	13438311	G	T	13438311	3	4	54	1	0	0	0	0	1	0	0	0	1901	1058	37	2	115	2	C18orf1	18	13438311	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4653709	13438311	64638937	320	13614											
C18orf25	147339	genome.wustl.edu	37	chr18	43796527	43796527	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgatgaagaggtttcAgggagcagcaagacaatcac	15	7	13	6	0	2	5	2	3	0	2	2	7	2	6	0	2	2	3	0	2	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr18:43796527A>G	ENST00000282059.6	+	2	1055	c.681A>G	c.(679-681)tcA>tcG	p.S227S	C18orf25_ENST00000321319.6_Silent_p.S227S	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	227										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						AAGAGGTTTCAGGGAGCAGCA	0.438																																																	0													41	39	40					18																	43796527		1974	4177	6151	SO:0001819	synonymous_variant	0			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.681A>G	18.37:g.43796527A>G			A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	NULL	p.S227	ENST00000282059.6	37	c.681	CCDS42430.1	18																																																																																			C18orf25	-	NULL	ENSG00000152242		0.438	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf25	HGNC	protein_coding	OTTHUMT00000445242.1	-	0	57	0	A	NM_145055		43796527	1	tier1	-	no_errors	ENST00000282059	ensembl	human	known	74_37	silent	10.71	25	3	SNP	1.000	G	G	43796527	A	G	43796527	2	3	54	1	0	0	0	0	0	0	0	1	1906	175	7	4		4	C18orf25	18	43796527	Silent	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	30358216	43796527	34280721	321	13615											
SMAD4	4089	genome.wustl.edu	37	chr18	48604749	48604749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagaaacaccttgctGgattgaaattcacttacacc	15	10	5	11	0	2	2	2	1	0	1	2	3	2	3	2	1	3	1	2	1	4	4	rs377767375		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr18:48604749G>T	ENST00000342988.3	+	12	2109	c.1571G>T	c.(1570-1572)tGg>tTg	p.W524L	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.W524L|SMAD4_ENST00000588745.1_Missense_Mutation_p.W428L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	524	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ACACCTTGCTGGATTGAAATT	0.488																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CM057959	SMAD4	M							92	90	91					18																	48604749		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1571G>T	18.37:g.48604749G>T	ENSP00000341551:p.Trp524Leu		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.W524L	ENST00000342988.3	37	c.1571	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243596	0.79912	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.99812	-6.88;-6.88	6.08	6.08	0.98989	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.108387	0.64402	D	0.000002	D	0.99729	0.9894	M	0.92833	3.35	0.80722	D	1	P	0.44380	0.834	P	0.49637	0.617	D	0.97755	1.0217	10	0.87932	D	0	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	524	Q13485	SMAD4_HUMAN	L	524	ENSP00000341551:W524L;ENSP00000381452:W524L	ENSP00000341551:W524L	W	+	2	0	SMAD4	46858747	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.586000	0.98226	2.890000	0.99128	0.655000	0.94253	TGG	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	63	0	G	NM_005359		48604749	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	T	T	48604749	G	T	48604749	3	4	54	1	0	0	0	0	1	0	0	0	14805	1357	47	3	1613	3	SMAD4	18	48604749	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4808222	48604749	29472499	322	13616											
RTTN	25914	genome.wustl.edu	37	chr18	67742586	67742586	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacaaagatatcgtacttAccatttaaatcattgctttc	15	15	3	8	1	1	1	1	0	0	1	3	1	1	1	1	0	4	2	1	0	8	8			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr18:67742586A>T	ENST00000255674.6	-	33	4851		c.e33+1		RTTN_ENST00000437017.1_Splice_Site|RTTN_ENST00000454359.1_Splice_Site	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin						determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TATCGTACTTACCATTTAAAT	0.234																																																	1	Unknown(1)	endometrium(1)											54	52	52					18																	67742586		1791	4062	5853	SO:0001630	splice_region_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4564+1T>A	18.37:g.67742586A>T			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Splice_Site	SNP	-	e33+2	ENST00000255674.6	37	c.4564+2	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149508	0.37923	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2222	0.65836	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTTN	65893566	1.000000	0.71417	0.987000	0.45799	0.233000	0.25261	4.625000	0.61262	2.090000	0.63153	0.454000	0.30748	.	RTTN	-	-	ENSG00000176225		0.234	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1		0	22	0	A	NM_173630	Intron	67742586	-1			no_errors	ENST00000255674	ensembl	human	known	74_37	splice_site	10.00	18	2	SNP	1.000	T	T	67742586	A	T	67742586	5	4	54	1	0	0	0	0	0	0	1	0	13782	405	14	5	2182	5	RTTN	18	67742586	Splice_Site	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	19137837	67742586	10334662	323	13617											
VAV1	7409	genome.wustl.edu	37	chr19	6821807	6821807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgaccccccaggccctTccccaccgaggaggagagtg	7	5	11	18	1	0	2	0	1	0	1	2	5	2	3	8	3	0	0	8	3	0	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:6821807T>C	ENST00000602142.1	+	4	468	c.386T>C	c.(385-387)tTc>tCc	p.F129S	VAV1_ENST00000304076.2_Missense_Mutation_p.F129S|VAV1_ENST00000599806.1_Missense_Mutation_p.F74S|VAV1_ENST00000539284.1_Missense_Mutation_p.F64S|VAV1_ENST00000596764.1_Missense_Mutation_p.F129S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	129					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCCAGGCCCTTCCCCACCGAG	0.647																																																	0													55	53	53					19																	6821807		2203	4298	6501	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.386T>C	19.37:g.6821807T>C	ENSP00000472929:p.Phe129Ser		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.F129S	ENST00000602142.1	37	c.386	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211122	0.58343	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.34072	1.38;1.38	4.34	3.32	0.38043	Calponin homology domain (2);	0.065100	0.64402	N	0.000009	T	0.55289	0.1911	M	0.76838	2.35	0.53005	D	0.999961	D;D;D;D	0.89917	1.0;1.0;0.978;0.999	D;D;P;D	0.87578	0.997;0.998;0.742;0.99	T	0.52571	-0.8558	10	0.42905	T	0.14	.	7.5346	0.27702	0.0:0.1037:0.0:0.8963	.	64;129;74;129	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	S	129;64	ENSP00000302269:F129S;ENSP00000443242:F64S	ENSP00000302269:F129S	F	+	2	0	VAV1	6772807	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	6.871000	0.75531	0.732000	0.32470	0.379000	0.24179	TTC	VAV1	-	superfamily_CH-domain	ENSG00000141968		0.647	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	-	0	49	0	T			6821807	1	tier1	-	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C	C	6821807	T	C	6821807	3	2	54	1	0	0	0	0	1	0	0	0	17180	1783	62	4	400	4	VAV1	19	6821807	Missense_Mutation	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09		6821807	52307176	324	13618											
LASS4	79603	genome.wustl.edu	37	chr19	8316045	8316045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacagagctagaagaccggGatggccgtgtctacccccac	10	5	13	13	2	1	3	0	0	1	3	1	5	1	5	4	3	2	1	4	3	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:8316045G>T	ENST00000251363.5	+	3	385	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	CERS4_ENST00000559450.1_Missense_Mutation_p.D29Y|CERS4_ENST00000595722.1_Intron|CERS4_ENST00000559336.1_Missense_Mutation_p.D29Y|CERS4_ENST00000558331.1_5'UTR	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	29					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AGAAGACCGGGATGGCCGTGT	0.592																																																	0													215	216	216					19																	8316045		2203	4300	6503	SO:0001583	missense	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"Homeoboxes / CERS class"	23747	protein-coding gene	gene with protein product		615334	"LAG1 longevity assurance homolog 4 (S. cerevisiae)", "LAG1 homolog, ceramide synthase 4"	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.85G>T	19.37:g.8316045G>T	ENSP00000251363:p.Asp29Tyr		D6W665	Missense_Mutation	SNP	pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom	p.D29Y	ENST00000251363.5	37	c.85	CCDS12197.1	19	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519062	0.44866	.	.	ENSG00000090661	ENST00000251363	T	0.69561	-0.41	4.22	3.18	0.36537	.	0.577339	0.17511	N	0.171637	T	0.79522	0.4460	M	0.87097	2.86	0.45284	D	0.99828	D;D	0.71674	0.972;0.998	P;P	0.61201	0.784;0.885	T	0.79184	-0.1908	10	0.72032	D	0.01	-12.131	7.9794	0.30175	0.118:0.0:0.882:0.0	.	29;29	Q53HF9;Q9HA82	.;CERS4_HUMAN	Y	29	ENSP00000251363:D29Y	ENSP00000251363:D29Y	D	+	1	0	CERS4	8222045	1.000000	0.71417	0.504000	0.27639	0.120000	0.20174	3.852000	0.55934	0.780000	0.33566	0.460000	0.39030	GAT	CERS4	-	pirsf_Longevity_assurance_LAG1_LAC1	ENSG00000090661		0.592	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS4	HGNC	protein_coding	OTTHUMT00000419200.1	-	0	47	0	G	NM_024552		8316045	1	tier1	-	no_errors	ENST00000251363	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.982	T	T	8316045	G	T	8316045	3	4	54	1	0	0	0	0	1	0	0	0	8669	1174	41	3	87	3	LASS4	19	8316045	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1494238	8316045	50812938	325	13619											
ZNF317	57693	genome.wustl.edu	37	chr19	9271573	9271573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatcgtcaagaaacccGtggaatgtcggcagtgcggg	10	8	13	10	4	2	1	2	0	0	1	4	2	2	2	1	3	2	1	1	3	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:9271573G>A	ENST00000247956.6	+	7	1557	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	ZNF317_ENST00000360385.3_Missense_Mutation_p.V386M	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAAGAAACCCGTGGAATGTCG	0.507																																																	0													77	78	77					19																	9271573		2203	4300	6503	SO:0001583	missense	0			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"Zinc fingers, C2H2-type", "-"	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1252G>A	19.37:g.9271573G>A	ENSP00000247956:p.Val418Met		Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V418M	ENST00000247956.6	37	c.1252	CCDS12210.1	19	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316695	0.23908	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.19394	2.15;2.15	2.92	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.630962	0.13121	N	0.412234	T	0.09905	0.0243	N	0.13098	0.295	0.09310	N	1	P;P	0.42649	0.567;0.786	B;B	0.40256	0.052;0.324	T	0.17653	-1.0362	10	0.87932	D	0	-8.6007	3.6369	0.08153	0.5196:0.0:0.2934:0.187	.	386;418	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	M	418;386	ENSP00000247956:V418M;ENSP00000353554:V386M	ENSP00000247956:V418M	V	+	1	0	ZNF317	9132573	0.005000	0.15991	0.000000	0.03702	0.664000	0.39144	1.593000	0.36686	-0.309000	0.08779	0.491000	0.48974	GTG	ZNF317	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000130803		0.507	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF317	HGNC	protein_coding	OTTHUMT00000448995.1	-	0	39	0	G	NM_020933		9271573	1	tier1	-	no_errors	ENST00000247956	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.000	A	A	9271573	G	A	9271573	3	1	54	1	0	0	0	0	1	0	0	0	17883	1145	40	1	1274	1	ZNF317	19	9271573	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	955528	9271573	49857410	326	13620											
ILF3	3609	genome.wustl.edu	37	chr19	10794640	10794640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaactcggcgacagcaGgctacagtaagtgtgcgttt	10	8	14	9	3	0	0	0	0	0	0	1	2	0	0	0	3	4	5	0	3	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:10794640G>C	ENST00000590261.1	+	16	2053	c.2053G>C	c.(2053-2055)Ggc>Cgc	p.G685R	ILF3_ENST00000588657.1_Missense_Mutation_p.G689R|ILF3_ENST00000592763.1_Missense_Mutation_p.G689R|ILF3_ENST00000250241.8_Missense_Mutation_p.G685R|ILF3_ENST00000420083.1_Missense_Mutation_p.G685R|ILF3_ENST00000449870.1_Missense_Mutation_p.G689R|ILF3_ENST00000318511.3_Missense_Mutation_p.G685R|ILF3_ENST00000589998.1_Missense_Mutation_p.G685R|ILF3_ENST00000407004.3_Missense_Mutation_p.G689R			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	685	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGCGACAGCAGGCTACAGTAA	0.602																																																	0													187	149	162					19																	10794640		2203	4300	6503	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2053G>C	19.37:g.10794640G>C	ENSP00000468156:p.Gly685Arg		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.G689R	ENST00000590261.1	37	c.2065	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030235	0.54790	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.24350	1.86;1.86;2.42;2.42;2.42	5.5	5.5	0.81552	.	0.123452	0.52532	D	0.000069	T	0.41766	0.1173	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.87578	0.991;0.998;0.996;0.998;0.998;0.998	T	0.27054	-1.0085	10	0.87932	D	0	.	16.3252	0.82977	0.0:0.0:1.0:0.0	.	689;689;685;689;685;685	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	R	685;689;685;685;689;685	ENSP00000404121:G689R;ENSP00000315205:G685R;ENSP00000405436:G685R;ENSP00000384660:G689R;ENSP00000250241:G685R	ENSP00000250241:G685R	G	+	1	0	ILF3	10655640	1.000000	0.71417	0.986000	0.45419	0.943000	0.58893	8.092000	0.89530	2.593000	0.87608	0.655000	0.94253	GGC	ILF3	-	NULL	ENSG00000129351		0.602	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	-	0	61	0	G			10794640	1	tier1	-	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	C	C	10794640	G	C	10794640	3	2	54	1	0	0	0	0	1	0	0	0	7739	1000	35	5	2127	5	ILF3	19	10794640	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1523067	10794640	48334343	327	13621											
ILVBL	10994	genome.wustl.edu	37	chr19	15226966	15226966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgggggcccttccttaccagGatcgagccagcgcagggggc	6	5	16	14	3	0	0	0	0	0	0	2	2	1	1	4	5	3	1	4	5	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:15226966G>A	ENST00000263383.3	-	12	1607	c.1468C>T	c.(1468-1470)Cct>Tct	p.P490S	ILVBL_ENST00000534378.1_Missense_Mutation_p.P383S	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	490	Thiamine pyrophosphate binding. {ECO:0000250}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TCCTTACCAGGATCGAGCCAG	0.642																																																	0													39	40	39					19																	15226966		2203	4300	6503	SO:0001583	missense	0			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"acetolactate synthase homolog"	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1468C>T	19.37:g.15226966G>A	ENSP00000263383:p.Pro490Ser		O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom	p.P490S	ENST00000263383.3	37	c.1468	CCDS12325.1	19	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522879	0.64747	.	.	ENSG00000105135	ENST00000263383	T	0.36520	1.25	5.22	4.19	0.49359	Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	0.053624	0.85682	N	0.000000	T	0.45994	0.1370	L	0.56340	1.77	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.52049	-0.8627	10	0.02654	T	1	.	9.5328	0.39205	0.0972:0.0:0.9028:0.0	.	490	A1L0T0	ILVBL_HUMAN	S	490	ENSP00000263383:P490S	ENSP00000263383:P490S	P	-	1	0	ILVBL	15087966	1.000000	0.71417	0.913000	0.36048	0.436000	0.31835	8.945000	0.92985	1.206000	0.43276	0.561000	0.74099	CCT	ILVBL	-	pfam_TPP_enzyme-bd_C	ENSG00000105135		0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILVBL	HGNC	protein_coding	OTTHUMT00000385439.1	-	0	37	0	G	NM_006844		15226966	-1	tier1	-	no_errors	ENST00000263383	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	A	A	15226966	G	A	15226966	3	1	54	1	0	0	0	0	1	0	0	0	7742	1174	41	3	450	3	ILVBL	19	15226966	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4432326	15226966	43902017	328	13622											
TBCB	1155	genome.wustl.edu	37	chr19	36612449	36612449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggtccgctctttcctgAagcgcagcaagctcggccgg	7	7	12	15	5	1	1	0	1	1	0	4	1	3	1	3	3	3	4	3	3	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:36612449A>G	ENST00000221855.3	+	4	951	c.376A>G	c.(376-378)Aag>Gag	p.K126E	TBCB_ENST00000586868.1_Intron|TBCB_ENST00000589996.1_Missense_Mutation_p.K126E|TBCB_ENST00000585746.1_Missense_Mutation_p.K75E|TBCB_ENST00000392178.4_3'UTR	NM_001281.2	NP_001272.2	Q99426	TBCB_HUMAN	tubulin folding cofactor B	126					'de novo' posttranslational protein folding (GO:0051084)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTTTCCTGAAGCGCAGCAA	0.701																																																	0													11	7	9					19																	36612449		2158	4217	6375	SO:0001583	missense	0			AF013488	CCDS12488.1, CCDS74344.1	19q13.11-q13.12	2008-02-05	2006-11-22	2006-11-22	ENSG00000105254	ENSG00000105254			1989	protein-coding gene	gene with protein product		601303	"cytoskeleton-associated protein 1", "cytoskeleton associated protein 1"	CKAP1		8978778	Standard	NM_001281		Approved	CG22, CKAPI	uc002odg.1	Q99426	OTTHUMG00000048143	ENST00000221855.3:c.376A>G	19.37:g.36612449A>G	ENSP00000221855:p.Lys126Glu		O00111|O00674|O14728|Q6FGY5	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K126E	ENST00000221855.3	37	c.376	CCDS12488.1	19	.	.	.	.	.	.	.	.	.	.	A	29.1	4.974677	0.92919	.	.	ENSG00000105254	ENST00000221855;ENST00000392178	D	0.92348	-3.02	5.21	5.21	0.72293	Cytoskeleton-associated protein, Gly-rich domain (1);	0.090168	0.85682	N	0.000000	D	0.89234	0.6657	L	0.52011	1.625	0.80722	D	1	P;B	0.40909	0.732;0.35	B;B	0.40199	0.322;0.188	D	0.87777	0.2609	10	0.30854	T	0.27	-32.2065	13.0725	0.59070	1.0:0.0:0.0:0.0	.	75;126	Q6FGY5;Q99426	.;TBCB_HUMAN	E	126	ENSP00000221855:K126E	ENSP00000221855:K126E	K	+	1	0	TBCB	41304289	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.550000	0.90675	1.993000	0.58246	0.444000	0.29173	AAG	TBCB	-	superfamily_CAP-Gly_domain	ENSG00000105254		0.701	TBCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCB	HGNC	protein_coding	OTTHUMT00000156291.2	-	0	10	0	A	NM_001281		36612449	1	tier1	-	no_errors	ENST00000221855	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	G	G	36612449	A	G	36612449	3	3	54	1	0	0	0	0	1	0	0	0	15677	247	9	4	390	4	TBCB	19	36612449	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	21385483	36612449	22516534	329	13623											
FCGBP	8857	genome.wustl.edu	37	chr19	40398361	40398361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagagagagcccgcgtaCgccgccggcacgcgcaggcg	8	1	15	17	8	0	2	0	0	0	2	0	3	0	2	4	2	2	3	4	2	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:40398361C>T	ENST00000221347.6	-	14	6613	c.6606G>A	c.(6604-6606)gcG>gcA	p.A2202A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2202	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCCCGCGTACGCCGCCGGCA	0.697																																																	0													31	39	36					19																	40398361		2019	3807	5826	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6606G>A	19.37:g.40398361C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A2202	ENST00000221347.6	37	c.6606	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.697	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	138	0	C	NM_003890		40398361	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	8.09	159	14	SNP	0.427	T	T	40398361	C	T	40398361	2	4	54	1	0	0	0	0	0	0	0	1	5800	523	19	1		1	FCGBP	19	40398361	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3785912	40398361	18730622	330	13624											
HNRNPUL1	11100	genome.wustl.edu	37	chr19	41812357	41812357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtttctttccccagtatGcccagcagtggaaccagtac	8	12	9	12	0	1	0	0	0	1	0	2	1	2	1	4	2	4	4	4	2	3	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:41812357G>T	ENST00000392006.3	+	15	2631	c.2458G>T	c.(2458-2460)Gcc>Tcc	p.A820S	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A720S|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A720S|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A731S|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A730S|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A768S|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A716S	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	820	Gln-rich.|Necessary for interaction with TP53.|Tyr-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCCCAGTATGCCCAGCAGTG	0.577																																																	0													135	110	118					19																	41812357		2203	4300	6503	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2458G>T	19.37:g.41812357G>T	ENSP00000375863:p.Ala820Ser		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.A820S	ENST00000392006.3	37	c.2458	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173547	0.57584	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T	0.36878	1.69;1.23;1.26	5.37	5.37	0.77165	.	0.201572	0.42294	D	0.000721	T	0.37128	0.0992	N	0.24115	0.695	0.34204	D	0.673531	P;P;P;D;P;P;P;P	0.65815	0.58;0.58;0.705;0.995;0.956;0.705;0.798;0.705	B;B;B;P;B;B;B;B	0.59643	0.096;0.096;0.269;0.861;0.409;0.269;0.138;0.196	T	0.36866	-0.9730	10	0.25106	T	0.35	-10.6986	9.9891	0.41860	0.0886:0.0:0.9114:0.0	.	731;720;768;354;820;716;820;720	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;A8K5K0;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;.;HNRL1_HUMAN;.	S	720;820;716;731	ENSP00000375863:A820S;ENSP00000367460:A716S;ENSP00000263367:A731S	ENSP00000263367:A731S	A	+	1	0	HNRNPUL1	46504197	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.426000	0.73374	2.822000	0.97130	0.650000	0.86243	GCC	HNRNPUL1	-	NULL	ENSG00000105323		0.577	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	-	0	31	0	G	NM_144732, NM_007040		41812357	1	tier1	-	no_errors	ENST00000392006	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	41812357	G	T	41812357	3	4	54	1	0	0	0	0	1	0	0	0	7301	1319	46	3	2516	3	HNRNPUL1	19	41812357	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1413996	41812357	17316626	331	13625											
BCKDHA	593	genome.wustl.edu	37	chr19	41928277	41928277	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcgcggcgatggcattggTatgggctctgctggctgctc	4	12	15	10	3	1	0	0	0	1	0	3	1	1	0	0	5	2	6	0	5	2	3	rs558254502		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:41928277T>C	ENST00000269980.2	+	6	1221		c.e6+2		CTC-435M10.6_ENST00000598887.1_RNA|CTC-435M10.3_ENST00000540732.1_Splice_Site|BCKDHA_ENST00000595085.1_Splice_Site|BCKDHA_ENST00000457836.2_Splice_Site|BCKDHA_ENST00000535632.1_Splice_Site	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ATGGCATTGGTATGGGCTCTG	0.612													T|||	1	0.000199681	0	0.0014	5008	,	,		18776	0		0	False		,,,				2504	0																0													70	59	63					19																	41928277		2203	4300	6503	SO:0001630	splice_region_variant	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"maple syrup urine disease"	608348	"branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)"	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.853+2T>C	19.37:g.41928277T>C			B4DP47|E7EW46|Q16034|Q16472	Splice_Site	SNP	-	e6+2	ENST00000269980.2	37	c.955+2	CCDS12581.1	19	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929628	0.34096	.	.	ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000540732;ENST00000269980;ENST00000542943;ENST00000457836;ENST00000378196	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6592	0.62357	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCKDHA;CTC-435M10.3	46620117	1.000000	0.71417	0.884000	0.34674	0.126000	0.20510	6.863000	0.75489	2.078000	0.62432	0.460000	0.39030	.	BCKDHA	-	-	ENSG00000248098		0.612	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	-	0	49	0	T	NM_000709	Intron	41928277	1	tier1	-	no_errors	ENST00000595085	ensembl	human	known	74_37	splice_site	51.35	18	19	SNP	1.000	C	C	41928277	T	C	41928277	5	2	54	1	0	0	0	0	0	0	1	0	1360	1652	57	4	877	4	BCKDHA	19	41928277	Splice_Site	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	115920	41928277	17200706	332	13626											
ETHE1	23474	genome.wustl.edu	37	chr19	44015664	44015664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgctgtggtcattcaGgacgaaggtgacacagcctg	9	8	14	10	1	2	1	2	1	0	0	2	3	2	2	2	4	2	1	2	4	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:44015664G>T	ENST00000292147.2	-	4	496	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	ETHE1_ENST00000600651.1_Missense_Mutation_p.L144M	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	144					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGGTCATTCAGGACGAAGGTG	0.592																																																	0													89	68	75					19																	44015664		2203	4300	6503	SO:0001583	missense	0				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.430C>A	19.37:g.44015664G>T	ENSP00000292147:p.Leu144Met		Q96HR0|Q9H001	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.L144M	ENST00000292147.2	37	c.430	CCDS12622.1	19	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054224	0.55218	.	.	ENSG00000105755	ENST00000292147	D	0.96200	-3.94	4.95	2.81	0.32909	Beta-lactamase-like (2);	0.565893	0.16775	N	0.200034	D	0.95351	0.8491	L	0.46670	1.46	0.32713	N	0.511372	B;D	0.58620	0.42;0.983	B;D	0.68353	0.155;0.957	D	0.93273	0.6653	10	0.36615	T	0.2	-10.392	6.576	0.22567	0.2998:0.0:0.7002:0.0	.	117;144	B2RCZ7;O95571	.;ETHE1_HUMAN	M	144	ENSP00000292147:L144M	ENSP00000292147:L144M	L	-	1	2	ETHE1	48707504	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	1.476000	0.35420	0.780000	0.33566	0.555000	0.69702	CTG	ETHE1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000105755		0.592	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	-	0	60	0	G	NM_014297		44015664	-1	tier1	-	no_errors	ENST00000292147	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.979	T	T	44015664	G	T	44015664	3	4	54	1	0	0	0	0	1	0	0	0	5288	991	35	3	350	3	ETHE1	19	44015664	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2087387	44015664	15113319	333	13627											
CCDC8	83987	genome.wustl.edu	37	chr19	46914593	46914593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccagaaggctctccggCgcttgcaaaaccacgaaaag	12	6	11	12	3	1	1	0	0	1	1	2	2	1	1	3	2	3	3	3	2	5	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:46914593C>T	ENST00000307522.3	-	1	2248	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	492					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGCTCTCCGGCGCTTGCAAAA	0.647																																																	0													55	58	57					19																	46914593		2203	4300	6503	SO:0001583	missense	0			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1475G>A	19.37:g.46914593C>T	ENSP00000303158:p.Arg492His		Q8TB26	Missense_Mutation	SNP	NULL	p.R492H	ENST00000307522.3	37	c.1475	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	C	5.995	0.367498	0.11352	.	.	ENSG00000169515	ENST00000307522	T	0.22134	1.97	4.05	-2.69	0.06022	.	0.426970	0.17404	N	0.175446	T	0.17238	0.0414	M	0.61703	1.905	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.20107	-1.0285	10	0.51188	T	0.08	0.2069	5.964	0.19315	0.1151:0.5534:0.2481:0.0833	.	492	Q9H0W5	CCDC8_HUMAN	H	492	ENSP00000303158:R492H	ENSP00000303158:R492H	R	-	2	0	CCDC8	51606433	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.084000	0.11268	-0.266000	0.09339	-2.650000	0.00149	CGC	CCDC8	-	NULL	ENSG00000169515		0.647	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	-	0	33	0	C	NM_032040		46914593	-1	tier1	-	no_errors	ENST00000307522	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.001	T	T	46914593	C	T	46914593	3	4	54	1	0	0	0	0	1	0	0	0	2860	768	27	1	145	1	CCDC8	19	46914593	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2898929	46914593	12214390	334	13628											
TULP2	7288	genome.wustl.edu	37	chr19	49387034	49387034	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtggctggacattgattcGctggttctggctgttggttc	4	16	14	7	1	1	1	0	1	1	0	3	2	1	2	0	5	0	6	0	5	1	6	rs376067742		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:49387034G>T	ENST00000221399.3	-	11	1396	c.1252C>A	c.(1252-1254)Cga>Aga	p.R418R		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	418					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACATTGATTCGCTGGTTCTGG	0.547																																																	0													109	101	104					19																	49387034		2203	4300	6503	SO:0001819	synonymous_variant	0			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1252C>A	19.37:g.49387034G>T			Q8TC50	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.R418	ENST00000221399.3	37	c.1252	CCDS12739.1	19																																																																																			TULP2	-	pfam_Tubby_C,superfamily_Tubby_C-like	ENSG00000104804		0.547	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	-	0	108	0	G	NM_003323		49387034	-1	tier1	-	no_errors	ENST00000221399	ensembl	human	known	74_37	silent	30.51	41	18	SNP	1.000	T	T	49387034	G	T	49387034	2	4	54	1	0	0	0	0	0	0	0	1	16823	1095	38	2		2	TULP2	19	49387034	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	2472441	49387034	9741949	335	13629											
TSKS	60385	genome.wustl.edu	37	chr19	50243122	50243122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacccctcaagtggcaGgttgctgagatgatcgtgga	8	9	15	9	2	1	2	1	2	0	1	2	5	1	4	2	4	1	3	2	4	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:50243122G>T	ENST00000246801.3	-	11	1772	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	TSKS_ENST00000358830.3_Missense_Mutation_p.L364M	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	564					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TCAAGTGGCAGGTTGCTGAGA	0.587																																																	0													106	101	103					19																	50243122		2203	4300	6503	SO:0001583	missense	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1690C>A	19.37:g.50243122G>T	ENSP00000246801:p.Leu564Met		Q8WXJ0	Missense_Mutation	SNP	NULL	p.L564M	ENST00000246801.3	37	c.1690	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120688	0.37436	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.38240	1.15;1.15	5.44	4.39	0.52855	.	0.000000	0.37761	N	0.001959	T	0.43411	0.1246	N	0.24115	0.695	0.29884	N	0.825798	D	0.76494	0.999	D	0.85130	0.997	T	0.39522	-0.9610	10	0.59425	D	0.04	-16.8191	10.4585	0.44565	0.0914:0.0:0.9086:0.0	.	564	Q9UJT2	TSKS_HUMAN	M	564;364	ENSP00000246801:L564M;ENSP00000351691:L364M	ENSP00000246801:L564M	L	-	1	2	TSKS	54934934	1.000000	0.71417	1.000000	0.80357	0.177000	0.22998	1.943000	0.40253	1.267000	0.44247	0.609000	0.83330	CTG	TSKS	-	NULL	ENSG00000126467		0.587	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	-	0	55	0	G	NM_021733		50243122	-1	tier1	-	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	T	T	50243122	G	T	50243122	3	4	54	1	0	0	0	0	1	0	0	0	16674	991	35	3	92	3	TSKS	19	50243122	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	856088	50243122	8885861	336	13630											
LRRC4B	94030	genome.wustl.edu	37	chr19	51022489	51022489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttccgcagccagagctcccGcagcttggacaggtactcga	8	7	12	14	3	0	1	0	0	0	1	3	3	2	2	3	2	4	6	3	2	1	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:51022489G>A	ENST00000599957.1	-	3	678	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R161W			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	161					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGAGCTCCCGCAGCTTGGAC	0.667																																																	0													57	62	60					19																	51022489		2202	4300	6502	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.481C>T	19.37:g.51022489G>A	ENSP00000471502:p.Arg161Trp		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R161W	ENST00000599957.1	37	c.481	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711267	0.68730	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.91577	-2.87	3.96	3.96	0.45880	.	0.000000	0.56097	U	0.000035	D	0.94656	0.8277	M	0.85299	2.745	0.49213	D	0.999766	D	0.89917	1.0	D	0.80764	0.994	D	0.94546	0.7749	10	0.87932	D	0	.	9.1887	0.37187	0.0:0.0:0.7833:0.2167	.	161	Q9NT99	LRC4B_HUMAN	W	161	ENSP00000373853:R161W	ENSP00000373853:R161W	R	-	1	2	LRRC4B	55714301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	2.235000	0.73313	0.491000	0.48974	CGG	LRRC4B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000131409		0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0	74	0	G	NM_001080457		51022489	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	21.05	89	24	SNP	1.000	A	A	51022489	G	A	51022489	3	1	54	1	0	0	0	0	1	0	0	0	9042	1086	38	1	1664	1	LRRC4B	19	51022489	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	779367	51022489	8106494	337	13631											
KLK1	3816	genome.wustl.edu	37	chr19	51322531	51322531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaggcttattgggggtGccacaagggacgtagcccca	11	6	14	10	1	0	1	0	0	0	1	0	2	0	2	3	4	2	2	3	4	4	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:51322531G>A	ENST00000301420.2	-	5	743	c.708C>T	c.(706-708)ggC>ggT	p.G236G	KLK1_ENST00000448701.2_Silent_p.G134G|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	TATTGGGGGTGCCACAAGGGA	0.592																																																	0													118	101	107					19																	51322531		2203	4300	6503	SO:0001819	synonymous_variant	0			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"Kallikreins"	6357	protein-coding gene	gene with protein product		147910	"kallikrein 1, renal/pancreas/salivary"			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.708C>T	19.37:g.51322531G>A			Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G236	ENST00000301420.2	37	c.708	CCDS12804.1	19																																																																																			KLK1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167748		0.592	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK1	HGNC	protein_coding	OTTHUMT00000464135.2	-	0	59	0	G	NM_002257		51322531	-1	tier1	-	no_errors	ENST00000301420	ensembl	human	known	74_37	silent	38.60	35	22	SNP	0.010	A	A	51322531	G	A	51322531	2	1	54	1	0	0	0	0	0	0	0	1	8424	1306	46	3		3	KLK1	19	51322531	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	300042	51322531	7806452	338	13632											
ZNF613	79898	genome.wustl.edu	37	chr19	52448658	52448658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatcggagaactcatacaGgggagagaccgtatggatgc	13	6	14	8	2	1	2	1	0	0	2	2	7	1	4	1	4	3	1	1	4	3	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:52448658G>T	ENST00000293471.6	+	6	2201	c.1522G>T	c.(1522-1524)Ggg>Tgg	p.G508W	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.G472W	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AACTCATACAGGGGAGAGACC	0.448																																																	0													90	71	78					19																	52448658		2203	4300	6503	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1522G>T	19.37:g.52448658G>T	ENSP00000293471:p.Gly508Trp		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G508W	ENST00000293471.6	37	c.1522	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952586	0.53293	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.26810	1.71;1.71	2.8	1.77	0.24775	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36972	N	0.002319	T	0.57095	0.2030	H	0.94462	3.54	0.27905	N	0.938842	D	0.89917	1.0	D	0.97110	1.0	T	0.54622	-0.8266	10	0.87932	D	0	.	9.4097	0.38485	0.1134:0.0:0.8866:0.0	.	508	Q6PF04	ZN613_HUMAN	W	508;472;182	ENSP00000293471:G508W;ENSP00000375671:G472W	ENSP00000293471:G508W	G	+	1	0	ZNF613	57140470	0.434000	0.25570	1.000000	0.80357	0.989000	0.77384	2.799000	0.47892	0.764000	0.33197	0.655000	0.94253	GGG	ZNF613	-	pfscan_Znf_C2H2	ENSG00000176024		0.448	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	-	0	56	0	G	NM_024840		52448658	1	tier1	-	no_errors	ENST00000293471	ensembl	human	known	74_37	missense	63.16	21	36	SNP	1.000	T	T	52448658	G	T	52448658	3	4	54	1	0	0	0	0	1	0	0	0	18086	1000	35	3	1536	3	ZNF613	19	52448658	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1126127	52448658	6680325	339	13633											
PPP1R12C	54776	genome.wustl.edu	37	chr19	55606101	55606101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttcgctggggattcaGgctccggaatcctggaggga	6	10	16	9	2	1	0	1	0	0	0	4	4	3	4	2	7	0	3	2	7	1	3	rs34972456		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:55606101G>A	ENST00000263433.3	-	12	1535	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P433L|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P507L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TGGGGATTCAGGCTCCGGAAT	0.617																																																	0													59	55	56					19																	55606101		2201	4298	6499	SO:0001583	missense	0			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1520C>T	19.37:g.55606101G>A	ENSP00000263433:p.Pro507Leu			Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P507L	ENST00000263433.3	37	c.1520	CCDS12916.1	19	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638585	0.47153	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.68624	-0.17;-0.2;-0.34	4.98	4.98	0.66077	.	1.637460	0.03846	N	0.271494	T	0.67468	0.2896	L	0.47716	1.5	0.20307	N	0.999914	B;P;B	0.39250	0.0;0.665;0.0	B;B;B	0.41088	0.002;0.347;0.001	T	0.56655	-0.7943	10	0.25751	T	0.34	.	14.108	0.65104	0.0:0.0:1.0:0.0	rs34972456	433;506;507	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	L	507;507;433	ENSP00000263433:P507L;ENSP00000365573:P507L;ENSP00000387833:P433L	ENSP00000263433:P507L	P	-	2	0	PPP1R12C	60297913	0.924000	0.31332	0.022000	0.16811	0.027000	0.11550	2.012000	0.40932	2.486000	0.83907	0.561000	0.74099	CCT	PPP1R12C	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000125503		0.617	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12C	HGNC	protein_coding	OTTHUMT00000451814.2	-	0	47	0	G	NM_017607		55606101	-1	tier1	rs34972456	no_errors	ENST00000263433	ensembl	human	known	74_37	missense	27.87	44	17	SNP	0.277	A	A	55606101	G	A	55606101	3	1	54	1	0	0	0	0	1	0	0	0	12398	1000	35	3	872	3	PPP1R12C	19	55606101	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	3157443	55606101	3522882	340	13634											
ZNF524	147807	genome.wustl.edu	37	chr19	56114037	56114037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggcgggcgagctggcgCaccaccaccgcgtgcactcg	6	3	16	16	7	0	0	0	0	0	0	1	2	0	0	3	3	2	3	3	3	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:56114037C>T	ENST00000591046.1	+	1	793	c.559C>T	c.(559-561)Cac>Tac	p.H187Y	ZNF865_ENST00000568956.1_5'Flank|ZNF524_ENST00000301073.3_Missense_Mutation_p.H187Y			Q96C55	ZN524_HUMAN	zinc finger protein 524	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGAGCTGGCGCACCACCACCG	0.731																																																	0													7	10	9					19																	56114037		2149	4175	6324	SO:0001583	missense	0			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"Zinc fingers, C2H2-type"	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.559C>T	19.37:g.56114037C>T	ENSP00000466907:p.His187Tyr		Q6NW31|Q96IL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H187Y	ENST00000591046.1	37	c.559	CCDS12929.1	19	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850091	0.51270	.	.	ENSG00000171443	ENST00000301073	T	0.07567	3.18	3.38	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07999	0.0200	N	0.05031	-0.125	0.09310	N	1	D	0.59357	0.985	P	0.57620	0.824	T	0.28138	-1.0053	9	0.59425	D	0.04	.	5.8397	0.18627	0.1905:0.7023:0.0:0.1071	.	187	Q96C55	ZN524_HUMAN	Y	187	ENSP00000301073:H187Y	ENSP00000301073:H187Y	H	+	1	0	ZNF524	60805849	0.000000	0.05858	0.969000	0.41365	0.814000	0.46013	0.282000	0.18829	0.998000	0.38996	0.561000	0.74099	CAC	ZNF524	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171443		0.731	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF524	HGNC	protein_coding	OTTHUMT00000457938.1		0	13	0	C	NM_153219		56114037	1			no_errors	ENST00000301073	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.091	T	T	56114037	C	T	56114037	3	4	54	1	0	0	0	0	1	0	0	0	18014	710	25	3	561	3	ZNF524	19	56114037	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	507936	56114037	3014946	341	13635											
ZNF552	79818	genome.wustl.edu	37	chr19	58320386	58320386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgggagacacacctgcCataggagtcctgacctgagt	9	10	11	11	0	1	3	0	2	1	1	2	5	2	4	4	2	1	0	4	2	1	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:58320386C>T	ENST00000391701.1	-	3	415	c.246G>A	c.(244-246)atG>atA	p.M82I	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	82	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACACACCTGCCATAGGAGTCC	0.498																																																	0													6	7	6					19																	58320386		1438	3147	4585	SO:0001583	missense	0			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.246G>A	19.37:g.58320386C>T	ENSP00000375582:p.Met82Ile		B3KUE9|Q6P5A6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M82I	ENST00000391701.1	37	c.246	CCDS12963.1	19	.	.	.	.	.	.	.	.	.	.	C	5.969	0.362750	0.11296	.	.	ENSG00000178935	ENST00000391701	T	0.04862	3.54	0.982	-0.314	0.12750	Krueppel-associated box (1);	.	.	.	.	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B;B	0.18968	0.017;0.032	B;B	0.11329	0.006;0.003	T	0.42531	-0.9446	9	0.54805	T	0.06	.	3.6959	0.08364	0.0:0.7148:0.0:0.2852	.	78;82	B7Z1H1;Q9H707	.;ZN552_HUMAN	I	82	ENSP00000375582:M82I	ENSP00000375582:M82I	M	-	3	0	ZNF552	63012198	0.003000	0.15002	0.001000	0.08648	0.082000	0.17680	0.199000	0.17237	-0.048000	0.13401	0.205000	0.17691	ATG	ZNF552	-	pfscan_Krueppel-associated_box	ENSG00000178935		0.498	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF552	HGNC	protein_coding	OTTHUMT00000466829.1	-	0	26	0	C	NM_024762		58320386	-1	tier1	-	no_errors	ENST00000391701	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.002	T	T	58320386	C	T	58320386	3	4	54	1	0	0	0	0	1	0	0	0	18032	594	21	3	981	3	ZNF552	19	58320386	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	2206349	58320386	808597	342	13636											
ZNF135	7694	genome.wustl.edu	37	chr19	58574827	58574827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcaggacattggttaccGaagccgaatgtcatctccct	10	10	10	11	2	2	1	1	1	1	0	3	4	2	2	3	2	3	2	3	2	3	2	rs375491279		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr19:58574827G>A	ENST00000313434.5	+	4	275	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ZNF135_ENST00000506786.1_Silent_p.P16P|ZNF135_ENST00000401053.4_Silent_p.P70P|ZNF135_ENST00000511556.1_Silent_p.P58P|ZNF135_ENST00000359978.6_Silent_p.P70P|ZNF135_ENST00000439855.2_Silent_p.P58P	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	58	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATTGGTTACCGAAGCCGAATG	0.572																																																	0								G	,,,,	0,4406		0,0,2203	100	87	91		210,210,210,174,210	-5	0	19		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ZNF135	NM_001164527.1,NM_001164529.1,NM_001164530.1,NM_003436.3,NM_007134.1	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	70/124,70/116,70/391,58/671,70/683	58574827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"Zinc fingers, C2H2-type", "-"	12919	protein-coding gene	gene with protein product		604077	"zinc finger protein 61", "zinc finger protein 135 (clone pHZ-17)"	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.174G>A	19.37:g.58574827G>A			B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P70	ENST00000313434.5	37	c.210		19	.	.	.	.	.	.	.	.	.	.	G	1.694	-0.503292	0.04261	0.0	1.16E-4	ENSG00000176293	ENST00000391699	.	.	.	2.51	-5.02	0.02982	.	.	.	.	.	T	0.27241	0.0668	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.09818	-1.0657	4	.	.	.	.	6.6644	0.23032	0.3707:0.3186:0.3108:0.0	.	.	.	.	Q	64	.	.	R	+	2	0	ZNF135	63266639	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.058000	0.00624	-4.108000	0.00073	-1.008000	0.02478	CGA	ZNF135	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000176293		0.572	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	ZNF135	HGNC	protein_coding	OTTHUMT00000361899.2	-	0	57	0	G	NM_003436		58574827	1	tier1	-	no_errors	ENST00000401053	ensembl	human	known	74_37	silent	47.50	21	19	SNP	0.000	A	A	58574827	G	A	58574827	2	1	54	1	0	0	0	0	0	0	0	1	17773	1045	37	1		1	ZNF135	19	58574827	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	254441	58574827	554156	343	13637											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3673201	3673201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggacgggagctgcGggtgccctgggcatcctggg	5	5	20	11	2	0	0	0	0	0	0	1	2	1	2	2	6	4	4	2	6	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr20:3673201G>A	ENST00000344754.4	-	15	3996	c.3997C>T	c.(3997-3999)Cgc>Tgc	p.R1333C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1333C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1333	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGGAGCTGCGGGTGCCCTGG	0.677																																																	0													16	18	17					20																	3673201		2200	4297	6497	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3997C>T	20.37:g.3673201G>A	ENSP00000341141:p.Arg1333Cys		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1333C	ENST00000344754.4	37	c.3997	CCDS13060.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.089292|4.089292	0.76756|0.76756	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.12465	.|2.68;2.68	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.34725	.|N	.|0.003725	T|T	0.40015|0.40015	0.1100|0.1100	M|M	0.85859|0.85859	2.78|2.78	0.47441|0.47441	D|D	0.999425|0.999425	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.995	T|T	0.28106|0.28106	-1.0054|-1.0054	5|10	.|0.66056	.|D	.|0.02	.|.	10.911|10.911	0.47108|0.47108	0.0848:0.0:0.9152:0.0|0.0848:0.0:0.9152:0.0	.|.	.|1333;1333	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	L|C	146|1333	.|ENSP00000341141:R1333C;ENSP00000202578:R1333C	.|ENSP00000202578:R1333C	P|R	-|-	2|1	0|0	SIGLEC1|SIGLEC1	3621201|3621201	0.011000|0.011000	0.17503|0.17503	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	0.850000|0.850000	0.27737|0.27737	2.755000|2.755000	0.94549|0.94549	0.655000|0.655000	0.94253|0.94253	CCG|CGC	SIGLEC1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000088827		0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0	62	0	G	NM_023068		3673201	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	37.74	33	20	SNP	0.993	A	A	3673201	G	A	3673201	3	1	54	1	0	0	0	0	1	0	0	0	14350	1116	39	1	1160	1	SIGLEC1	20	3673201	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		3673201	59352319	344	13638											
PANK2	80025	genome.wustl.edu	37	chr20	3893116	3893116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taatcatagtcttggaggagGaactttttttggtctctgct	8	17	10	6	0	3	0	1	0	2	0	4	3	3	3	0	4	2	1	0	4	3	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr20:3893116G>A	ENST00000316562.4	+	4	1253	c.1247G>A	c.(1246-1248)gGa>gAa	p.G416E	PANK2_ENST00000497424.1_Missense_Mutation_p.G125E|PANK2_ENST00000610179.1_Missense_Mutation_p.G293E|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	416					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTGGAGGAGGAACTTTTTTT	0.338																																																	0													140	150	147					20																	3893116		2203	4300	6503	SO:0001583	missense	0			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"Hallervorden-Spatz syndrome"	606157	"neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1247G>A	20.37:g.3893116G>A	ENSP00000313377:p.Gly416Glu		B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.G416E	ENST00000316562.4	37	c.1247	CCDS13071.2	20	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485811	0.63962	.	.	ENSG00000125779	ENST00000497424;ENST00000316562;ENST00000399552	D;D	0.99911	-7.92;-7.92	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.95574	3.69	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95993	0.8987	10	0.87932	D	0	.	15.7055	0.77577	0.0:0.0:1.0:0.0	.	416	Q9BZ23	PANK2_HUMAN	E	125;416;232	ENSP00000417609:G125E;ENSP00000313377:G416E	ENSP00000313377:G416E	G	+	2	0	PANK2	3841116	1.000000	0.71417	1.000000	0.80357	0.318000	0.28184	9.563000	0.98148	2.589000	0.87451	0.591000	0.81541	GGA	PANK2	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000125779		0.338	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PANK2	HGNC	protein_coding	OTTHUMT00000077793.2		0	51	0	G	NM_024960		3893116	1			no_errors	ENST00000316562	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	3893116	G	A	3893116	3	1	54	1	0	0	0	0	1	0	0	0	11456	1174	41	3	1261	3	PANK2	20	3893116	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	219915	3893116	59132404	345	13639											
PAX1	5075	genome.wustl.edu	37	chr20	21689255	21689255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggaagactgggccggcGtgaaccgcacggccttcccc	8	5	14	14	4	0	3	0	1	0	2	1	4	1	4	5	4	1	1	5	4	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr20:21689255G>A	ENST00000398485.2	+	3	1030	c.976G>A	c.(976-978)Gtg>Atg	p.V326M	PAX1_ENST00000444366.2_Missense_Mutation_p.V302M|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	326					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTGGGCCGGCGTGAACCGCAC	0.597																																																	0													47	55	52					20																	21689255		2203	4300	6503	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.976G>A	20.37:g.21689255G>A	ENSP00000381499:p.Val326Met		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.V326M	ENST00000398485.2	37	c.976	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251396	0.39797	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98400	-4.44;-4.91	5.41	4.47	0.54385	.	0.291939	0.31963	N	0.006792	D	0.95503	0.8539	L	0.59912	1.85	0.44129	D	0.996917	B;B;P	0.40360	0.212;0.048;0.714	B;B;B	0.25759	0.063;0.016;0.063	D	0.94192	0.7442	10	0.26408	T	0.33	.	14.0349	0.64638	0.0739:0.0:0.9261:0.0	.	302;232;326	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	M	326;302	ENSP00000381499:V326M;ENSP00000410355:V302M	ENSP00000381499:V326M	V	+	1	0	PAX1	21637255	1.000000	0.71417	0.900000	0.35374	0.113000	0.19764	5.192000	0.65115	1.285000	0.44548	-0.463000	0.05309	GTG	PAX1	-	NULL	ENSG00000125813		0.597	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	40	0	G			21689255	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	40.00	20	14	SNP	1.000	A	A	21689255	G	A	21689255	3	1	54	1	0	0	0	0	1	0	0	0	11517	1145	40	1	986	1	PAX1	20	21689255	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	17796139	21689255	41336265	346	13640											
KIAA1755	85449	genome.wustl.edu	37	chr20	36841560	36841560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacctggctctgcctgggggGctgctgccggaagaaggtgg	5	7	19	10	1	1	1	0	0	1	1	1	3	1	2	3	7	3	3	3	7	2	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr20:36841560G>T	ENST00000279024.4	-	14	3758	c.3487C>A	c.(3487-3489)Ccc>Acc	p.P1163T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1163										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGCCTGGGGGGCTGCTGCCGG	0.642																																																	0													40	42	41					20																	36841560		2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.3487C>A	20.37:g.36841560G>T	ENSP00000279024:p.Pro1163Thr		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.P1163T	ENST00000279024.4	37	c.3487	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512917	0.27123	.	.	ENSG00000149633	ENST00000279024	T	0.06218	3.33	4.93	3.99	0.46301	.	0.321330	0.22534	N	0.058814	T	0.04363	0.0120	L	0.36672	1.1	0.09310	N	1	B	0.28470	0.213	B	0.23852	0.049	T	0.38802	-0.9644	10	0.02654	T	1	.	8.8314	0.35087	0.1009:0.0:0.8991:0.0	.	1163	Q5JYT7	K1755_HUMAN	T	1163	ENSP00000279024:P1163T	ENSP00000279024:P1163T	P	-	1	0	KIAA1755	36274974	0.217000	0.23597	0.027000	0.17364	0.142000	0.21351	1.616000	0.36933	1.310000	0.45006	0.561000	0.74099	CCC	KIAA1755	-	NULL	ENSG00000149633		0.642	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0	88	0	G	NM_001029864		36841560	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	33.80	46	24	SNP	0.090	T	T	36841560	G	T	36841560	3	4	54	1	0	0	0	0	1	0	0	0	8284	1203	42	3	119	3	KIAA1755	20	36841560	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	15152305	36841560	26183960	347	13641											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47538456	47538456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaccaagagcatgttCgtgtcccgggccctggagaa	10	6	13	12	2	0	3	0	0	0	3	2	4	1	3	4	2	2	2	4	2	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr20:47538456C>A	ENST00000371917.4	+	1	30	c.30C>A	c.(28-30)ttC>ttA	p.F10L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	10	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGAGCATGTTCGTGTCCCGGG	0.726																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													33	37	35					20																	47538456		2111	4169	6280	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.30C>A	20.37:g.47538456C>A	ENSP00000360985:p.Phe10Leu		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.F10L	ENST00000371917.4	37	c.30	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	15.69	2.906855	0.52333	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.26373	1.74	4.64	3.7	0.42460	.	0.063724	0.64402	D	0.000006	T	0.37679	0.1012	L	0.61387	1.9	0.58432	D	0.999996	D	0.53462	0.96	P	0.52758	0.708	T	0.19877	-1.0292	10	0.48119	T	0.1	.	12.8467	0.57833	0.0:0.9208:0.0:0.0792	.	10	Q9Y6D5	BIG2_HUMAN	L	10	ENSP00000360985:F10L	ENSP00000360985:F10L	F	+	3	2	ARFGEF2	46971863	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.951000	0.29135	1.169000	0.42739	0.591000	0.81541	TTC	ARFGEF2	-	NULL	ENSG00000124198		0.726	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1		0	33	0	C	NM_006420		47538456	1			no_errors	ENST00000371917	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A	A	47538456	C	A	47538456	3	1	54	1	0	0	0	0	1	0	0	0	853	883	31	2	32	2	ARFGEF2	20	47538456	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	10696896	47538456	15487064	348	13642											
LSM14B	149986	genome.wustl.edu	37	chr20	60708434	60708434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttcgtggccgcagttctCggggcggattccgaggaggc	4	10	16	11	5	2	0	0	0	2	0	5	3	3	2	2	6	0	2	2	6	0	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr20:60708434C>T	ENST00000279068.6	+	8	1235	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	LSM14B_ENST00000253001.4_Missense_Mutation_p.R359W	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	359					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CCGCAGTTCTCGGGGCGGATT	0.637																																																	0													84	100	95					20																	60708434		1991	4144	6135	SO:0001583	missense	0			AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 40", "family with sequence similarity 61, member B", "LSM14 homolog B (SCD6, S. cerevisiae)"	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.1075C>T	20.37:g.60708434C>T	ENSP00000279068:p.Arg359Trp		Q6PFW8|Q96LH8	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.R359W	ENST00000279068.6	37	c.1075	CCDS46626.1	20	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833525	0.71258	.	.	ENSG00000149657	ENST00000279068;ENST00000253001	T;T	0.58940	0.33;0.3	4.7	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	N	0.24115	0.695	0.44337	D	0.997225	D;D;D	0.76494	0.996;0.999;0.999	P;P;P	0.59703	0.53;0.732;0.862	T	0.63301	-0.6668	10	0.87932	D	0	.	12.8522	0.57864	0.3237:0.6763:0.0:0.0	.	279;359;359	E9PG81;Q9BX40;Q9BX40-2	.;LS14B_HUMAN;.	W	359	ENSP00000279068:R359W;ENSP00000253001:R359W	ENSP00000253001:R359W	R	+	1	2	LSM14B	60141829	1.000000	0.71417	0.463000	0.27130	0.945000	0.59286	1.298000	0.33412	1.157000	0.42530	0.655000	0.94253	CGG	LSM14B	-	NULL	ENSG00000149657		0.637	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM14B	HGNC	protein_coding	OTTHUMT00000079996.4	-	0	51	0	C	NM_144703		60708434	1	tier1	-	no_errors	ENST00000253001	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.949	T	T	60708434	C	T	60708434	3	4	54	1	0	0	0	0	1	0	0	0	9090	875	31	1	1105	1	LSM14B	20	60708434	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	13169978	60708434	2317086	349	13643											
DIDO1	11083	genome.wustl.edu	37	chr20	61522367	61522367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtcctgggcgctcagcggGatcaggtagaggtccttgac	6	8	17	10	2	2	2	2	1	0	1	4	3	4	3	2	5	1	2	2	5	1	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr20:61522367G>T	ENST00000266070.4	-	15	3811	c.3486C>A	c.(3484-3486)atC>atA	p.I1162I	DIDO1_ENST00000395335.2_Silent_p.I1162I|DIDO1_ENST00000395343.1_Silent_p.I1162I|DIDO1_ENST00000395340.1_Silent_p.I1162I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1162					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGCTCAGCGGGATCAGGTAGA	0.572																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													104	101	102					20																	61522367		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3486C>A	20.37:g.61522367G>T			A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.I1162	ENST00000266070.4	37	c.3486	CCDS33506.1	20																																																																																			DIDO1	-	pfam_SPOC_C	ENSG00000101191		0.572	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	72	0	G	NM_080796		61522367	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	silent	30.19	37	16	SNP	0.896	T	T	61522367	G	T	61522367	2	4	54	1	0	0	0	0	0	0	0	1	4536	1164	41	3		3	DIDO1	20	61522367	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	813933	61522367	1503153	350	13644											
ADAMTS5	11096	genome.wustl.edu	37	chr21	28296469	28296469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccatcctggcactgcaccGttctggtgtgccaacctgtg	5	12	10	14	1	1	0	0	0	1	0	3	0	3	0	5	2	3	3	5	2	1	2	rs368781824		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr21:28296469G>A	ENST00000284987.5	-	8	2817	c.2696C>T	c.(2695-2697)aCg>aTg	p.T899M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	899	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T899M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCACTGCACCGTTCTGGTGTG	0.542																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												1	Substitution - Missense(1)	pancreas(1)						G	MET/THR	0,4406		0,0,2203	92	79	83		2696	5.2	1	21		83	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADAMTS5	NM_007038.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	899/931	28296469	2,13004	2203	4300	6503	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"ADAM metallopeptidases with thrombospondin type 1 motif"	221	protein-coding gene	gene with protein product	"aggrecanase-2"	605007	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.2696C>T	21.37:g.28296469G>A	ENSP00000284987:p.Thr899Met		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.T899M	ENST00000284987.5	37	c.2696	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483244	0.63962	0.0	2.33E-4	ENSG00000154736	ENST00000284987	T	0.54279	0.58	6.07	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.53334	0.1790	L	0.58428	1.81	0.58432	D	0.999998	P	0.44521	0.837	B	0.42593	0.392	T	0.56498	-0.7969	10	0.46703	T	0.11	.	15.649	0.77076	0.0654:0.0:0.9346:0.0	.	899	Q9UNA0	ATS5_HUMAN	M	899	ENSP00000284987:T899M	ENSP00000284987:T899M	T	-	2	0	ADAMTS5	27218340	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.398000	0.79919	1.595000	0.50050	-0.119000	0.15052	ACG	ADAMTS5	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000154736		0.542	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	-	0	47	0	G			28296469	-1	tier1	-	no_errors	ENST00000284987	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	A	A	28296469	G	A	28296469	3	1	54	1	0	0	0	0	1	0	0	0	269	1145	40	1	100	1	ADAMTS5	21	28296469	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09		28296469	19833426	351	13645											
KCNJ6	3763	genome.wustl.edu	37	chr21	39086633	39086633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcatggctaatgatcagcGgtgacaccagaaacagacgg	13	8	11	9	2	2	4	2	2	0	2	2	4	2	4	1	3	2	1	1	3	2	2			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr21:39086633G>A	ENST00000609713.1	-	3	1416	c.827C>T	c.(826-828)cCg>cTg	p.P276L	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.P276L	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	276					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AATGATCAGCGGTGACACCAG	0.493																																					Pancreas(48;379 1118 2936 19024 28214)												0													127	132	130					21																	39086633		1947	4156	6103	SO:0001583	missense	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.827C>T	21.37:g.39086633G>A	ENSP00000477437:p.Pro276Leu		Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.P276L	ENST00000609713.1	37	c.827	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772486	0.90108	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.97731	-4.51;-4.51	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98574	1.0647	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	276	P48051	IRK6_HUMAN	L	276	ENSP00000383330:P276L;ENSP00000288309:P276L	ENSP00000288309:P276L	P	-	2	0	KCNJ6	38008503	1.000000	0.71417	0.893000	0.35052	0.984000	0.73092	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	CCG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000157542		0.493	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	-	0	84	0	G	NM_002240		39086633	-1	tier1	-	no_errors	ENST00000288309	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	A	A	39086633	G	A	39086633	3	1	54	1	0	0	0	0	1	0	0	0	8082	1116	39	1	452	1	KCNJ6	21	39086633	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	10790164	39086633	9043262	352	13646											
PWP2	5822	genome.wustl.edu	37	chr21	45528948	45528948	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttatcagtcccgtgggCaatagagtcactgtatttga	10	13	10	8	1	3	2	3	1	0	1	4	2	4	2	1	1	0	3	1	1	4	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr21:45528948C>A	ENST00000291576.7	+	2	229	c.102C>A	c.(100-102)ggC>ggA	p.G34G		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	34					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GTCCCGTGGGCAATAGAGTCA	0.353																																																	0													111	93	99					21																	45528948		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"WD repeat domain containing"	9711	protein-coding gene	gene with protein product		601475	"PWP2 (periodic tryptophan protein, yeast) homolog"	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.102C>A	21.37:g.45528948C>A			B2RAG8|Q96A77	Silent	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G34	ENST00000291576.7	37	c.102	CCDS33579.1	21																																																																																			PWP2	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000241945		0.353	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	-	0	45	0	C	NM_005049		45528948	1	tier1	-	no_errors	ENST00000291576	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.970	A	A	45528948	C	A	45528948	2	1	54	1	0	0	0	0	0	0	0	1	12889	697	25	3		3	PWP2	21	45528948	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6442315	45528948	2600947	353	13647											
KRTAP10-10	353333	genome.wustl.edu	37	chr21	46057784	46057784	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctgctgtgtgcctgtCtgctctaagtccgtctgcta	4	13	11	13	1	3	0	0	0	3	0	4	0	4	0	3	1	4	3	3	1	2	2	rs587722247	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr21:46057784C>A	ENST00000380095.1	+	1	512	c.450C>A	c.(448-450)gtC>gtA	p.V150V	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	150	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GTGTGCCTGTCTGCTCTAAGT	0.612																																																	0													305	274	285					21																	46057784		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"Keratin associated proteins"	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.450C>A	21.37:g.46057784C>A				Silent	SNP	NULL	p.V150	ENST00000380095.1	37	c.450	CCDS33585.1	21																																																																																			KRTAP10-10	-	NULL	ENSG00000221859		0.612	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-10	HGNC	protein_coding	OTTHUMT00000128034.1	-	0	119	0	C	NM_181688		46057784	1	tier1	-	no_errors	ENST00000380095	ensembl	human	known	74_37	silent	18.89	72	17	SNP	0.838	A	A	46057784	C	A	46057784	2	1	54	1	0	0	0	0	0	0	0	1	8533	900	32	3		3	KRTAP10-10	21	46057784	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	528836	46057784	2072111	354	13648											
PCBP3	54039	genome.wustl.edu	37	chr21	47316264	47316264	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcaccatccgcctgctGatgcatggaaaggtaagagg	11	7	11	12	1	1	2	1	1	0	1	2	3	2	3	4	3	2	3	4	3	2	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr21:47316264G>T	ENST00000400314.1	+	4	491	c.153G>T	c.(151-153)ctG>ctT	p.L51L	PCBP3_ENST00000400310.1_Silent_p.L51L|PCBP3_ENST00000400309.1_Silent_p.L51L|PCBP3_ENST00000400304.1_Silent_p.L19L|PCBP3_ENST00000400308.1_Silent_p.L51L|PCBP3_ENST00000449640.1_Silent_p.L51L			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	51	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCCGCCTGCTGATGCATGGAA	0.577																																																	0													33	39	37					21																	47316264		1856	3865	5721	SO:0001819	synonymous_variant	0			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.153G>T	21.37:g.47316264G>T			A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.L51	ENST00000400314.1	37	c.153	CCDS42974.2	21																																																																																			PCBP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000183570		0.577	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	-	0	72	0	G			47316264	1	tier1	-	no_errors	ENST00000400314	ensembl	human	known	74_37	silent	25.00	36	12	SNP	0.995	T	T	47316264	G	T	47316264	2	4	54	1	0	0	0	0	0	0	0	1	11541	1277	45	3		3	PCBP3	21	47316264	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	1258480	47316264	813631	355	13649											
PCNT	5116	genome.wustl.edu	37	chr21	47850518	47850518	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcagagccagctggagGaggagcagctgcggcacctg	8	4	16	13	1	0	1	0	0	0	1	0	4	0	4	3	4	6	5	3	4	0	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr21:47850518G>T	ENST00000359568.5	+	37	8118	c.8011G>T	c.(8011-8013)Gag>Tag	p.E2671*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2671					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCAGCTGGAGGAGGAGCAGCT	0.647																																																	0													32	27	29					21																	47850518		2187	4291	6478	SO:0001587	stop_gained	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8011G>T	21.37:g.47850518G>T	ENSP00000352572:p.Glu2671*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.E2671*	ENST00000359568.5	37	c.8011	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	48	14.194214	0.99784	.	.	ENSG00000160299	ENST00000359568	.	.	.	4.87	1.8	0.24995	.	0.263331	0.20231	N	0.096462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	7.9597	0.30064	0.0861:0.3405:0.5734:0.0	.	.	.	.	X	2671	.	ENSP00000352572:E2671X	E	+	1	0	PCNT	46674946	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	2.288000	0.43514	0.558000	0.29135	0.563000	0.77884	GAG	PCNT	-	NULL	ENSG00000160299		0.647	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	52	0	G	NM_006031		47850518	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T	T	47850518	G	T	47850518	4	4	54	1	0	0	0	0	0	1	0	0	11629	1175	41	3	8157	3	PCNT	21	47850518	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	534254	47850518	279377	356	13650											
CABIN1	23523	genome.wustl.edu	37	chr22	24451336	24451336	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggccctctccctttagCtggaagtgcctcggagagag	6	11	13	11	1	1	1	0	0	1	1	3	4	1	3	3	3	2	1	3	3	2	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:24451336C>T	ENST00000398319.2	+	9	1192	c.807C>T	c.(805-807)acC>acT	p.T269T	CABIN1_ENST00000405822.2_Splice_Site_p.C219C|CABIN1_ENST00000263119.5_Splice_Site_p.T269T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	269					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTCCCTTTAGCTGGAAGTGCC	0.557																																																	0													117	104	109					22																	24451336		2203	4300	6503	SO:0001630	splice_region_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.807-1C>T	22.37:g.24451336C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T269	ENST00000398319.2	37	c.807	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.557	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0	38	0	C	NM_012295	Silent	24451336	1	tier1	-	no_errors	ENST00000263119	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.987	T	T	24451336	C	T	24451336	5	4	54	1	0	0	0	0	0	0	1	0	2535	811	28	3	837	3	CABIN1	22	24451336	Splice_Site	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		24451336	26853230	357	13651											
SUSD2	56241	genome.wustl.edu	37	chr22	24583631	24583631	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcacgaccccaccttcGagcccctcttccccagtgag	8	6	7	20	2	1	1	0	1	1	0	3	3	2	1	8	0	2	1	8	0	1	2	rs372525863		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:24583631G>T	ENST00000358321.3	+	12	2245	c.1984G>T	c.(1984-1986)Gag>Tag	p.E662*		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	662	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCCCACCTTCGAGCCCCTCTT	0.577																																																	0													141	124	130					22																	24583631		2203	4300	6503	SO:0001587	stop_gained	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.1984G>T	22.37:g.24583631G>T	ENSP00000351075:p.Glu662*		Q9H5Y6	Nonsense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.E662*	ENST00000358321.3	37	c.1984	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	g	38	6.716179	0.97784	.	.	ENSG00000099994	ENST00000358321	.	.	.	4.52	-5.93	0.02254	.	1.129380	0.06453	N	0.728071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-3.1022	7.5143	0.27592	0.4208:0.355:0.2242:0.0	.	.	.	.	X	662	.	ENSP00000351075:E662X	E	+	1	0	SUSD2	22913631	0.003000	0.15002	0.003000	0.11579	0.842000	0.47809	0.019000	0.13444	-1.218000	0.02601	-0.292000	0.09595	GAG	SUSD2	-	NULL	ENSG00000099994		0.577	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	-	0	45	0	G	NM_019601		24583631	1	tier1	-	no_errors	ENST00000358321	ensembl	human	known	74_37	nonsense	12.12	29	4	SNP	0.305	T	T	24583631	G	T	24583631	4	4	54	1	0	0	0	0	0	1	0	0	15455	1059	37	2	2030	2	SUSD2	22	24583631	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	132295	24583631	26720935	358	13652											
ADORA2A	135	genome.wustl.edu	37	chr22	24829476	24829476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccgtgtggctcaacaGcaacctgcagaacgtcacca	10	6	11	14	2	2	1	2	0	0	1	2	1	2	1	3	2	5	3	3	2	3	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:24829476G>T	ENST00000337539.7	+	2	563	c.104G>T	c.(103-105)aGc>aTc	p.S35I	ADORA2A-AS1_ENST00000326341.4_RNA|ADORA2A_ENST00000496497.1_Intron|ADORA2A-AS1_ENST00000543438.1_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	35					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cAMP biosynthetic process (GO:0006171)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|central nervous system development (GO:0007417)|inflammatory response (GO:0006954)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phagocytosis (GO:0006909)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|sensory perception (GO:0007600)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|G-protein coupled adenosine receptor activity (GO:0001609)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Adenosine(DB00640)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Mefloquine(DB00358)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Regadenoson(DB06213)|Theobromine(DB01412)|Theophylline(DB00277)	TGGCTCAACAGCAACCTGCAG	0.612																																																	0													163	101	122					22																	24829476		2203	4300	6503	SO:0001583	missense	0			X68486	CCDS13826.1	22q11.23	2012-08-08			ENSG00000128271	ENSG00000128271		"GPCR / Class A : Adenosine receptors"	263	protein-coding gene	gene with protein product		102776		ADORA2		1662665, 2541503	Standard	NM_001278497		Approved	RDC8	uc002zzy.4	P29274	OTTHUMG00000150761	ENST00000337539.7:c.104G>T	22.37:g.24829476G>T	ENSP00000336630:p.Ser35Ile		B2R7E0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt,prints_GPCR_Rhodpsn,prints_Adenosn_rcpt	p.S35I	ENST00000337539.7	37	c.104	CCDS13826.1	22	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430732	0.62844	.	.	ENSG00000128271	ENST00000424232;ENST00000444262;ENST00000541988;ENST00000337539;ENST00000417596;ENST00000436735;ENST00000439591	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	4.53	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.038910	0.85682	D	0.000000	T	0.65112	0.2660	M	0.87180	2.865	0.50813	D	0.99989	D	0.57571	0.98	P	0.61275	0.886	T	0.73455	-0.3977	10	0.62326	D	0.03	-40.5979	14.9985	0.71451	0.0:0.1559:0.844:0.0	.	35	P29274	AA2AR_HUMAN	I	35	ENSP00000404497:S35I;ENSP00000414802:S35I;ENSP00000336630:S35I;ENSP00000397071:S35I;ENSP00000400190:S35I	ENSP00000336630:S35I	S	+	2	0	ADORA2A	23159476	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.462000	0.80851	2.350000	0.79820	0.561000	0.74099	AGC	ADORA2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A2A_rcpt	ENSG00000128271		0.612	ADORA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA2A	HGNC	protein_coding	OTTHUMT00000319971.2	-	0	35	0	G	NM_000675		24829476	1	tier1	-	no_errors	ENST00000337539	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	T	T	24829476	G	T	24829476	3	4	54	1	0	0	0	0	1	0	0	0	327	971	34	3	106	3	ADORA2A	22	24829476	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	245845	24829476	26475090	359	13653											
C22orf30	253143	genome.wustl.edu	37	chr22	32110194	32110194	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattccaaaggtactttCtttgccaaactcagagtttg	12	13	8	8	0	2	1	1	0	1	1	3	2	3	2	2	2	3	2	2	2	4	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:32110194C>A	ENST00000327423.6	-	4	3820	c.3631G>T	c.(3631-3633)Gaa>Taa	p.E1211*	PRR14L_ENST00000397493.2_Nonsense_Mutation_p.E1211*|PRR14L_ENST00000434485.1_Nonsense_Mutation_p.E1211*|PRR14L_ENST00000461722.1_5'Flank	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1211										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						AAGGTACTTTCTTTGCCAAAC	0.393											OREG0003535	type=REGULATORY REGION|Gene=AK130944|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													231	174	191					22																	32110194		692	1591	2283	SO:0001587	stop_gained	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.3631G>T	22.37:g.32110194C>A	ENSP00000331845:p.Glu1211*	829	Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Nonsense_Mutation	SNP	NULL	p.E1211*	ENST00000327423.6	37	c.3631	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	40	8.162149	0.98683	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	.	.	.	5.63	2.41	0.29592	.	0.237224	0.29152	N	0.012983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7408	8.402	0.32592	0.0:0.7621:0.0:0.2379	.	.	.	.	X	1211	.	.	E	-	1	0	PRR14L	30440194	0.000000	0.05858	0.069000	0.20011	0.099000	0.18886	0.245000	0.18142	0.320000	0.23234	0.650000	0.86243	GAA	PRR14L	-	NULL	ENSG00000183530		0.393	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	-	0	44	0	C	NM_173566		32110194	-1	tier1	-	no_errors	ENST00000397493	ensembl	human	known	74_37	nonsense	20.93	34	9	SNP	0.095	A	A	32110194	C	A	32110194	4	1	54	1	0	0	0	0	0	1	0	0	2149	922	32	3	2848	3	C22orf30	22	32110194	Nonsense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7280718	32110194	19194372	360	13654											
MYH9	4627	genome.wustl.edu	37	chr22	36700136	36700136	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgggccagcacaccGgcacggaagaagactttgct	10	6	13	12	2	0	2	0	0	0	2	1	3	1	3	3	4	2	3	3	4	2	1	rs150133983	byFrequency	TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:36700136G>T	ENST00000216181.5	-	19	2525	c.2295C>A	c.(2293-2295)gcC>gcA	p.A765A		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	765	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCAGCACACCGGCACGGAAGA	0.602			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													73	66	68					22																	36700136		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2295C>A	22.37:g.36700136G>T			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A765	ENST00000216181.5	37	c.2295	CCDS13927.1	22																																																																																			MYH9	-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000100345		0.602	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	0	46	0	G	NM_002473		36700136	-1	tier1	-	no_errors	ENST00000216181	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.004	T	T	36700136	G	T	36700136	2	4	54	1	0	0	0	0	0	0	0	1	10080	1103	39	2		2	MYH9	22	36700136	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4589942	36700136	14604430	361	13655											
TTLL1	25809	genome.wustl.edu	37	chr22	43464566	43464566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaacaggttgtagtcaGcgggcagcatataggtgact	12	9	12	8	1	1	1	1	1	0	0	1	1	1	1	0	3	4	4	0	3	5	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:43464566G>T	ENST00000266254.7	-	5	593	c.353C>A	c.(352-354)gCt>gAt	p.A118D	TTLL1_ENST00000331018.7_Missense_Mutation_p.A118D	NM_012263.4	NP_036395.1	O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	118	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|epithelial cilium movement (GO:0003351)|protein polyglutamylation (GO:0018095)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	tubulin-glutamic acid ligase activity (GO:0070740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GTTGTAGTCAGCGGGCAGCAT	0.537																																																	0													146	149	148					22																	43464566		2203	4300	6503	SO:0001583	missense	0			AL096886	CCDS14043.1	22q13.1	2013-02-14			ENSG00000100271	ENSG00000100271		"Tubulin tyrosine ligase-like family"	1312	protein-coding gene	gene with protein product		608955	"tubulin tyrosine ligase-like 1"	C22orf7		10591208, 11054573	Standard	NM_012263		Approved		uc003bdi.3	O95922	OTTHUMG00000150699	ENST00000266254.7:c.353C>A	22.37:g.43464566G>T	ENSP00000266254:p.Ala118Asp		B2RDS7|Q9BR27|Q9NRS9|Q9UMU0	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.A118D	ENST00000266254.7	37	c.353	CCDS14043.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.578522|4.578522	0.86645|0.86645	.|.	.|.	ENSG00000100271|ENSG00000100271	ENST00000331018;ENST00000266254|ENST00000495814	T;T|.	0.07327|.	3.2;3.2|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.047520|.	0.85682|.	D|.	0.000000|.	T|T	0.75280|0.75280	0.3828|0.3828	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	P;P|.	0.49253|.	0.921;0.851|.	P;P|.	0.51550|.	0.543;0.673|.	T|T	0.73081|0.73081	-0.4095|-0.4095	10|5	0.66056|.	D|.	0.02|.	.|.	19.4814|19.4814	0.95011|0.95011	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	118;118|.	O95922-4;O95922|.	.;TTLL1_HUMAN|.	D|M	118|44	ENSP00000333734:A118D;ENSP00000266254:A118D|.	ENSP00000266254:A118D|.	A|L	-|-	2|1	0|2	TTLL1|TTLL1	41794510|41794510	1.000000|1.000000	0.71417|0.71417	0.144000|0.144000	0.22314|0.22314	0.841000|0.841000	0.47740|0.47740	9.369000|9.369000	0.97156|0.97156	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	GCT|CTG	TTLL1	-	pfam_TTL/TTLL_fam	ENSG00000100271		0.537	TTLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL1	HGNC	protein_coding	OTTHUMT00000319659.1		0	35	0	G	NM_012263		43464566	-1			no_errors	ENST00000266254	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.996	T	T	43464566	G	T	43464566	3	4	54	1	0	0	0	0	1	0	0	0	16771	971	34	3	946	3	TTLL1	22	43464566	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6764430	43464566	7840000	362	13656											
EFCAB6	64800	genome.wustl.edu	37	chr22	44168882	44168882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgaccagtatccagcaGctgaaaggctttttgcaact	10	12	9	10	0	1	2	0	2	1	0	2	2	2	2	2	1	4	6	2	1	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:44168882G>T	ENST00000262726.7	-	4	494	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	EFCAB6_ENST00000356087.4_Intron|EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	81	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTATCCAGCAGCTGAAAGGCT	0.433																																																	0													143	127	132					22																	44168882		2203	4300	6503	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.241C>A	22.37:g.44168882G>T	ENSP00000262726:p.Leu81Met		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.L81M	ENST00000262726.7	37	c.241	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109901	0.37242	.	.	ENSG00000186976	ENST00000262726	T	0.46819	0.86	4.57	2.22	0.28083	EF-hand-like domain (1);	0.619515	0.13570	N	0.378162	T	0.59169	0.2174	M	0.65975	2.015	0.80722	D	1	D;D	0.61697	0.985;0.99	P;P	0.60682	0.878;0.692	T	0.58295	-0.7661	10	0.45353	T	0.12	-9.9723	8.9586	0.35834	0.0:0.0:0.5956:0.4044	.	81;81	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	M	81	ENSP00000262726:L81M	ENSP00000262726:L81M	L	-	1	2	EFCAB6	42500215	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	1.369000	0.34227	1.217000	0.43442	0.563000	0.77884	CTG	EFCAB6	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000186976		0.433	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0	53	0	G	NM_022785		44168882	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.984	T	T	44168882	G	T	44168882	3	4	54	1	0	0	0	0	1	0	0	0	4953	962	34	3	4380	3	EFCAB6	22	44168882	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	704316	44168882	7135684	363	13657											
ALG12	79087	genome.wustl.edu	37	chr22	50297536	50297536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagctttgtctgcaggtGgacgttgaaggggggcagtt	7	10	16	8	1	1	1	0	1	1	0	1	2	1	2	1	5	2	5	1	5	1	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chr22:50297536G>T	ENST00000330817.6	-	10	1690	c.1417C>A	c.(1417-1419)Cac>Aac	p.H473N	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	473					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GTCTGCAGGTGGACGTTGAAG	0.652																																																	0													66	73	70					22																	50297536		2203	4300	6503	SO:0001583	missense	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.1417C>A	22.37:g.50297536G>T	ENSP00000333813:p.His473Asn		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.H473N	ENST00000330817.6	37	c.1417	CCDS14081.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.101|0.101	-1.151800|-1.151800	0.01700|0.01700	.|.	.|.	ENSG00000182858|ENSG00000182858	ENST00000330817|ENST00000332276	T|.	0.79352|.	-1.26|.	5.41|5.41	-4.69|-4.69	0.03299|0.03299	.|.	0.499875|.	0.23021|.	N|.	0.052854|.	T|T	0.12347|0.12347	0.0300|0.0300	N|N	0.01668|0.01668	-0.77|-0.77	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.31752|0.31752	-0.9932|-0.9932	10|6	0.14252|0.87932	T|D	0.57|0	-20.2851|-20.2851	6.95|6.95	0.24540|0.24540	0.0:0.2316:0.3064:0.462|0.0:0.2316:0.3064:0.462	.|.	473|.	Q9BV10|.	ALG12_HUMAN|.	N|Q	473|118	ENSP00000333813:H473N|.	ENSP00000333813:H473N|ENSP00000329560:P118Q	H|P	-|-	1|2	0|0	ALG12|ALG12	48683540|48683540	0.982000|0.982000	0.34865|0.34865	0.008000|0.008000	0.14137|0.14137	0.088000|0.088000	0.18126|0.18126	1.047000|1.047000	0.30367|0.30367	-0.978000|-0.978000	0.03533|0.03533	-0.867000|-0.867000	0.03001|0.03001	CAC|CCA	ALG12	-	NULL	ENSG00000182858		0.652	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2	-	0	79	0	G	NM_024105		50297536	-1	tier1	-	no_errors	ENST00000330817	ensembl	human	known	74_37	missense	60.00	14	21	SNP	0.016	T	T	50297536	G	T	50297536	3	4	54	1	0	0	0	0	1	0	0	0	514	1348	47	3	53	3	ALG12	22	50297536	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6128654	50297536	1007030	364	13658											
MXRA5	25878	genome.wustl.edu	37	chrX	3228851	3228851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgccttcagctttgcagtCaatcagtttccgactgcccc	7	12	8	14	1	3	0	3	0	0	0	4	2	4	0	4	0	4	3	4	0	1	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:3228851C>T	ENST00000217939.6	-	7	7547	c.7393G>A	c.(7393-7395)Gac>Aac	p.D2465N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2465	Ig-like C2-type 9.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTTTGCAGTCAATCAGTTTC	0.572																																																	0													43	29	34					X																	3228851		2203	4298	6501	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7393G>A	X.37:g.3228851C>T	ENSP00000217939:p.Asp2465Asn		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D2465N	ENST00000217939.6	37	c.7393	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620404	0.28801	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65916	-0.18	3.54	2.65	0.31530	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40064	U	0.001185	T	0.72495	0.3467	L	0.58354	1.805	0.39269	D	0.964351	D	0.76494	0.999	D	0.71870	0.975	T	0.72381	-0.4311	10	0.45353	T	0.12	.	12.4185	0.55508	0.0:0.8334:0.1666:0.0	.	2465	Q9NR99	MXRA5_HUMAN	N	2465	ENSP00000217939:D2465N	ENSP00000217939:D2465N	D	-	1	0	MXRA5	3238851	0.973000	0.33851	0.008000	0.14137	0.001000	0.01503	1.755000	0.38379	0.373000	0.24621	-0.234000	0.12200	GAC	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101825		0.572	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	32	0	C	NM_015419		3228851	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	62.96	10	17	SNP	0.995	T	T	3228851	C	T	3228851	3	4	54	1	0	0	0	0	1	0	0	0	10041	826	29	3	1097	3	MXRA5	23	3228851	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09		3228851	152041709	365	13659											
PCYT1B	9468	genome.wustl.edu	37	chrX	24597492	24597492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggaggttacgtcgggCataaacatcatagtcacgaa	12	10	10	9	3	3	0	2	0	1	0	5	2	3	1	0	3	2	2	0	3	5	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:24597492C>A	ENST00000379144.2	-	6	779	c.649G>T	c.(649-651)Gcc>Tcc	p.A217S	PCYT1B_ENST00000356768.4_Missense_Mutation_p.A217S|PCYT1B_ENST00000379145.1_Missense_Mutation_p.A199S	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	217					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTACGTCGGGCATAAACATCA	0.453																																																	0													284	203	230					X																	24597492		2203	4300	6503	SO:0001583	missense	0			AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"phosphate cytidylyltransferase 1, choline, beta isoform"			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.649G>T	X.37:g.24597492C>A	ENSP00000368439:p.Ala217Ser		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.A217S	ENST00000379144.2	37	c.649	CCDS14213.1	X	.	.	.	.	.	.	.	.	.	.	c	19.58	3.854774	0.71719	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	L	0.29908	0.895	0.80722	D	1	B;B;B	0.33198	0.168;0.401;0.401	B;B;B	0.25506	0.061;0.048;0.048	T	0.52997	-0.8500	9	0.87932	D	0	-18.9325	17.745	0.88418	0.0:1.0:0.0:0.0	.	217;199;217	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	S	199;217;217	.	ENSP00000349211:A217S	A	-	1	0	PCYT1B	24507413	1.000000	0.71417	0.994000	0.49952	0.938000	0.57974	7.313000	0.78978	2.378000	0.81104	0.525000	0.51046	GCC	PCYT1B	-	NULL	ENSG00000102230		0.453	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1B	HGNC	protein_coding	OTTHUMT00000056103.1	-	0	51	0	C	NM_004845		24597492	-1	tier1	-	no_errors	ENST00000379144	ensembl	human	known	74_37	missense	59.38	26	38	SNP	1.000	A	A	24597492	C	A	24597492	3	1	54	1	0	0	0	0	1	0	0	0	11650	710	25	3	509	3	PCYT1B	23	24597492	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	21368641	24597492	130673068	366	13660											
FAM47C	442444	genome.wustl.edu	37	chrX	37027002	37027002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggagaagacaactgaCgaacccacggagcctggtaa	14	3	13	11	2	0	3	0	1	0	2	0	6	0	4	3	4	3	1	3	4	4	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:37027002C>T	ENST00000358047.3	+	1	571	c.519C>T	c.(517-519)gaC>gaT	p.D173D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	173										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACAACTGACGAACCCACGG	0.607																																																	0													42	39	40					X																	37027002		2202	4300	6502	SO:0001819	synonymous_variant	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.519C>T	X.37:g.37027002C>T			Q6ZU46	Silent	SNP	NULL	p.D173	ENST00000358047.3	37	c.519	CCDS35227.1	X																																																																																			FAM47C	-	NULL	ENSG00000198173		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0	58	0	C	NM_001013736		37027002	1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	silent	40.00	24	16	SNP	0.000	T	T	37027002	C	T	37027002	2	4	54	1	0	0	0	0	0	0	0	1	5593	535	19	1		1	FAM47C	23	37027002	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	12429510	37027002	118243558	367	13661											
FAM47C	442444	genome.wustl.edu	37	chrX	37028719	37028719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagagcctcccaagcctCgggtttccagtctccgccca	6	7	9	19	2	1	1	0	0	1	1	5	1	3	1	7	1	2	1	7	1	1	1	rs199727942		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:37028719C>T	ENST00000358047.3	+	1	2288	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	746										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGCCTCGGGTTTCCAG	0.632																																																	0								C	TRP/ARG	0,3833		0,0,1631,571	46	45	46		2236	-1.9	0	X		46	2,6726		0,2,2426,1872	no	missense	FAM47C	NM_001013736.2	101	0,2,4057,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging	746/1036	37028719	2,10559	2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2236C>T	X.37:g.37028719C>T	ENSP00000367913:p.Arg746Trp		Q6ZU46	Missense_Mutation	SNP	NULL	p.R746W	ENST00000358047.3	37	c.2236	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	-	6.353	0.433266	0.12045	0.0	2.97E-4	ENSG00000198173	ENST00000358047	T	0.16597	2.33	0.929	-1.86	0.07760	.	.	.	.	.	T	0.09818	0.0241	L	0.46157	1.445	0.09310	N	1	P	0.38711	0.643	B	0.14578	0.011	T	0.24404	-1.0161	9	0.66056	D	0.02	.	5.426	0.16425	1.0E-4:0.3759:0.624:0.0	.	746	Q5HY64	FA47C_HUMAN	W	746	ENSP00000367913:R746W	ENSP00000367913:R746W	R	+	1	2	FAM47C	36938640	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.358000	0.07641	0.253000	0.21552	0.257000	0.18616	CGG	FAM47C	-	NULL	ENSG00000198173		0.632	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0	113	0	C	NM_001013736		37028719	1	tier1	rs199727942	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	7.07	92	7	SNP	0.005	T	T	37028719	C	T	37028719	3	4	54	1	0	0	0	0	1	0	0	0	5593	875	31	1	2238	1	FAM47C	23	37028719	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	1717	37028719	118241841	368	13662											
KDM6A	7403	genome.wustl.edu	37	chrX	44949973	44949973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttcctagcctgcCagtataaattggcagtggaa	9	17	8	7	0	0	0	0	0	0	0	1	1	1	1	3	2	2	2	3	2	5	9			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:44949973C>A	ENST00000377967.4	+	26	3783	c.3742C>A	c.(3742-3744)Cag>Aag	p.Q1248K	KDM6A_ENST00000536777.1_Missense_Mutation_p.Q1203K|KDM6A_ENST00000543216.1_Missense_Mutation_p.Q1169K|KDM6A_ENST00000382899.4_Missense_Mutation_p.Q1255K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1248	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTAGCCTGCCAGTATAAATT	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											107	91	97					X																	44949973		2203	4300	6503	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3742C>A	X.37:g.44949973C>A	ENSP00000367203:p.Gln1248Lys		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q1255K	ENST00000377967.4	37	c.3763	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.337589|4.337589	0.81911|0.81911	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.70749	.|-0.51;-0.51;-0.51;-0.51	5.57|5.57	5.57|5.57	0.84162|0.84162	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88183|0.88183	0.6368|0.6368	M|M	0.92738|0.92738	3.34|3.34	0.80722|0.80722	D|D	1|1	.|P;P;D;D;D	.|0.71674	.|0.924;0.811;0.992;0.998;0.991	.|P;P;P;D;D	.|0.74348	.|0.9;0.879;0.886;0.952;0.983	D|D	0.90959|0.90959	0.4811|0.4811	5|10	.|0.87932	.|D	.|0	-8.11|-8.11	18.6811|18.6811	0.91546|0.91546	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|887;1255;1203;1300;1248	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	Q|K	845;890|945;1248;1203;1255;1169	.|ENSP00000367203:Q1248K;ENSP00000437405:Q1203K;ENSP00000372355:Q1255K;ENSP00000443078:Q1169K	.|ENSP00000334340:Q945K	P|Q	+|+	2|1	0|0	KDM6A|KDM6A	44834917|44834917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.356000|2.356000	0.79943|0.79943	0.523000|0.523000	0.50628|0.50628	CCA|CAG	KDM6A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000147050		0.373	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0	40	0	C	NM_021140		44949973	1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	44949973	C	A	44949973	3	1	54	1	0	0	0	0	1	0	0	0	8164	595	21	3	3844	3	KDM6A	23	44949973	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	7921254	44949973	110320587	369	13663											
TFE3	7030	genome.wustl.edu	37	chrX	48889017	48889017	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttgcggatataatcCacagaggccttcaggatggt	10	10	12	9	1	1	1	1	0	0	1	2	3	2	3	2	4	3	2	2	4	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:48889017C>A	ENST00000315869.7	-	9	1438	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	393	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGATATAATCCACAGAGGCCT	0.607			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													31	28	29					X																	48889017		2201	4296	6497	SO:0001819	synonymous_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"Basic helix-loop-helix proteins"	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1179G>T	X.37:g.48889017C>A			A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Silent	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V393	ENST00000315869.7	37	c.1179	CCDS14315.3	X																																																																																			TFE3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000068323		0.607	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	-	0	33	0	C	NM_006521		48889017	-1	tier1	-	no_errors	ENST00000315869	ensembl	human	known	74_37	silent	25.81	23	8	SNP	1.000	A	A	48889017	C	A	48889017	2	1	54	1	0	0	0	0	0	0	0	1	15847	581	21	3		3	TFE3	23	48889017	Silent	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	3939044	48889017	106381543	370	13664											
SYP	6855	genome.wustl.edu	37	chrX	49054188	49054188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacctgaaggggtactcGaactcgacctcgatgctgag	10	7	12	12	3	0	2	0	2	0	0	3	5	0	2	2	2	3	3	2	2	3	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:49054188G>T	ENST00000263233.4	-	3	285	c.213C>A	c.(211-213)ttC>ttA	p.F71L	SYP-AS1_ENST00000433499.1_RNA|SYP_ENST00000479808.1_Missense_Mutation_p.F71L|SYP_ENST00000538567.1_Intron	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	71	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				AGGGGTACTCGAACTCGACCT	0.607																																																	0													70	41	51					X																	49054188		2203	4300	6503	SO:0001583	missense	0			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.213C>A	X.37:g.49054188G>T	ENSP00000263233:p.Phe71Leu		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	pfam_Marvel,prints_Synaptophysin/porin	p.F71L	ENST00000263233.4	37	c.213	CCDS14321.1	X	.	.	.	.	.	.	.	.	.	.	g	14.94	2.684691	0.47991	.	.	ENSG00000102003	ENST00000263233;ENST00000479808	T;T	0.79554	-1.28;-1.28	4.55	-0.519	0.11939	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89203	0.6648	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87540	0.2458	10	0.87932	D	0	-0.7943	10.0396	0.42151	0.5829:0.0:0.4171:0.0	.	71	P08247	SYPH_HUMAN	L	71	ENSP00000263233:F71L;ENSP00000418169:F71L	ENSP00000263233:F71L	F	-	3	2	SYP	48941132	0.998000	0.40836	0.993000	0.49108	0.276000	0.26787	0.547000	0.23299	-0.299000	0.08909	-0.303000	0.09236	TTC	SYP	-	pfam_Marvel,prints_Synaptophysin/porin	ENSG00000102003		0.607	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYP	HGNC	protein_coding	OTTHUMT00000083625.2	-	0	44	0	G	NM_003179		49054188	-1	tier1	-	no_errors	ENST00000263233	ensembl	human	known	74_37	missense	57.14	12	16	SNP	0.992	T	T	49054188	G	T	49054188	3	4	54	1	0	0	0	0	1	0	0	0	15508	1049	37	2	744	2	SYP	23	49054188	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	165171	49054188	106216372	371	13665											
MSN	4478	genome.wustl.edu	37	chrX	64949488	64949488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgctgtgctgctggcctcGtatgctgtccagtctaagta	6	12	11	12	2	1	0	0	0	1	0	3	0	2	0	3	1	3	6	3	1	3	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:64949488G>A	ENST00000360270.5	+	4	553	c.381G>A	c.(379-381)tcG>tcA	p.S127S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	127	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						TGCTGGCCTCGTATGCTGTCC	0.527			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													83	60	68					X																	64949488		2203	4300	6503	SO:0001819	synonymous_variant	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.381G>A	X.37:g.64949488G>A				Silent	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.S127	ENST00000360270.5	37	c.381	CCDS14382.1	X																																																																																			MSN	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	ENSG00000147065		0.527	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	-	0	26	0	G	NM_002444		64949488	1	tier1	-	no_errors	ENST00000360270	ensembl	human	known	74_37	silent	78.95	4	15	SNP	0.824	A	A	64949488	G	A	64949488	2	1	54	1	0	0	0	0	0	0	0	1	9923	1132	40	1		1	MSN	23	64949488	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	15895300	64949488	90321072	372	13666											
HEPH	9843	genome.wustl.edu	37	chrX	65420509	65420510	+	Frame_Shift_Del	DEL	TG	TG	-																															gtcatgttccagggcaacacTgtgcagcttcagggcatgag																										TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:65420509_65420510delTG	ENST00000343002.2	+	11	2656_2657	c.1992_1993delTG	c.(1990-1995)actgtgfs	p.V665fs	HEPH_ENST00000374727.3_Frame_Shift_Del_p.V668fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.V668fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.V398fs|HEPH_ENST00000519389.1_Frame_Shift_Del_p.V719fs|HEPH_ENST00000419594.1_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	665	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGGCAACACTGTGCAGCTTCA	0.564																																																	0																																										SO:0001589	frameshift_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1992_1993delTG	X.37:g.65420511_65420512delTG	ENSP00000343939:p.Val665fs		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Del	DEL	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.V719fs	ENST00000343002.2	37	c.2154_2155		X																																																																																			HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.564	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1		0	66	0	TG	NM_138737		65420510	1	tier1		no_errors	ENST00000519389	ensembl	human	known	74_37	frame_shift_del	53.66	19	22	DEL	0.146:0.142	-	-	65420510	TG	-	65420509	7	5	54	1	0	1	0	1	0	0	0	0	7081	1567	55	0	2200	0	HEPH	23	65420509	Frame_Shift_Del	DEL	TG	TCGA-L5-A4OE-01A-11D-A27G-09	471021	65420509	89850051	373	13667											
MED12	9968	genome.wustl.edu	37	chrX	70346289	70346289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttcatcttcgacctcatGgaatattcactcagcatcag	11	12	6	12	1	6	0	5	0	1	0	7	2	6	1	1	1	1	2	1	1	2	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:70346289G>T	ENST00000374080.3	+	19	2672	c.2640G>T	c.(2638-2640)atG>atT	p.M880I	MED12_ENST00000374102.1_Missense_Mutation_p.M880I|MED12_ENST00000462984.1_3'UTR|MED12_ENST00000333646.6_Missense_Mutation_p.M880I			Q93074	MED12_HUMAN	mediator complex subunit 12	880					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCGACCTCATGGAATATTCAC	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													165	153	157					X																	70346289		2126	4208	6334	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2640G>T	X.37:g.70346289G>T	ENSP00000363193:p.Met880Ile		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.M880I	ENST00000374080.3	37	c.2640	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	18.17	3.565146	0.65651	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	M	0.69823	2.125	0.80722	D	1	D;P;P;D	0.61697	0.99;0.949;0.864;0.983	D;P;P;D	0.68483	0.958;0.504;0.547;0.909	D	0.88648	0.3180	10	0.72032	D	0.01	-16.4165	17.1036	0.86656	0.0:0.0:1.0:0.0	.	880;727;880;880	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	I	880;880;880;880;848	ENSP00000333125:M880I;ENSP00000363215:M880I;ENSP00000363193:M880I;ENSP00000414203:M848I	ENSP00000333125:M880I	M	+	3	0	MED12	70263014	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.986000	0.93492	2.217000	0.71921	0.529000	0.55759	ATG	MED12	-	NULL	ENSG00000184634		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	-	0	38	0	G	NM_005120		70346289	1	tier1	-	no_errors	ENST00000333646	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	70346289	G	T	70346289	3	4	54	1	0	0	0	0	1	0	0	0	9466	1348	47	3	2714	3	MED12	23	70346289	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	4925780	70346289	84924271	374	13668											
GPR174	84636	genome.wustl.edu	37	chrX	78426729	78426729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctttccttgccactgagGatcttctactacttgaatca	8	16	6	11	0	4	2	1	2	3	0	5	3	5	3	2	1	3	1	2	1	3	7	rs376602978		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:78426729G>T	ENST00000276077.1	+	1	261	c.225G>T	c.(223-225)agG>agT	p.R75S		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGCCACTGAGGATCTTCTACT	0.393										HNSCC(63;0.18)																																							0													127	96	106					X																	78426729		2203	4300	6503	SO:0001583	missense	0			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.225G>T	X.37:g.78426729G>T	ENSP00000276077:p.Arg75Ser		Q2M3F7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R75S	ENST00000276077.1	37	c.225	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	g	15.61	2.884059	0.51908	.	.	ENSG00000147138	ENST00000276077	T	0.71579	-0.58	5.18	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	M	0.63428	1.95	0.46061	D	0.998845	D	0.89917	1.0	D	0.97110	1.0	T	0.76982	-0.2757	10	0.46703	T	0.11	.	8.7284	0.34483	0.0873:0.1476:0.7651:0.0	.	75	Q9BXC1	GP174_HUMAN	S	75	ENSP00000276077:R75S	ENSP00000276077:R75S	R	+	3	2	GPR174	78313385	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.755000	0.26405	0.951000	0.37770	0.534000	0.68092	AGG	GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000147138		0.393	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	-	0	20	0	G	NM_032553		78426729	1	tier1	-	no_errors	ENST00000276077	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	T	T	78426729	G	T	78426729	3	4	54	1	0	0	0	0	1	0	0	0	6698	1165	41	3	227	3	GPR174	23	78426729	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	8080440	78426729	76843831	375	13669											
CHM	1121	genome.wustl.edu	37	chrX	85218945	85218945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catagtgcttaatgactcatCctccgtaggcaggaaggcag	11	9	11	10	1	1	1	1	1	0	0	3	2	3	2	2	3	1	4	2	3	4	3			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:85218945C>A	ENST00000357749.2	-	5	456	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	143					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AATGACTCATCCTCCGTAGGC	0.473																																																	0													105	89	94					X																	85218945		2203	4300	6503	SO:0001583	missense	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.427G>T	X.37:g.85218945C>A	ENSP00000350386:p.Asp143Tyr		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.D143Y	ENST00000357749.2	37	c.427	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	C	7.455	0.643477	0.14451	.	.	ENSG00000188419	ENST00000357749	T	0.58652	0.32	4.72	3.86	0.44501	.	0.746362	0.12484	N	0.464829	T	0.48642	0.1511	L	0.44542	1.39	0.20074	N	0.999935	P	0.38148	0.62	B	0.37508	0.252	T	0.42666	-0.9438	10	0.66056	D	0.02	-2.1346	7.574	0.27924	0.162:0.7488:0.0:0.0892	.	143	P24386	RAE1_HUMAN	Y	143	ENSP00000350386:D143Y	ENSP00000350386:D143Y	D	-	1	0	CHM	85105601	0.003000	0.15002	0.006000	0.13384	0.287000	0.27160	0.616000	0.24344	0.914000	0.36822	0.284000	0.19432	GAT	CHM	-	pirsf_Rab_geranylTrfase_A_euk	ENSG00000188419		0.473	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	-	0	30	0	C	NM_000390		85218945	-1	tier1	-	no_errors	ENST00000357749	ensembl	human	known	74_37	missense	56.67	13	17	SNP	0.004	A	A	85218945	C	A	85218945	3	1	54	1	0	0	0	0	1	0	0	0	3357	855	30	3	1578	3	CHM	23	85218945	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6792216	85218945	70051615	376	13670											
PCDH11X	27328	genome.wustl.edu	37	chrX	91873445	91873445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcacaggcctctactcagCaccacagcccacgagtgaca	11	6	8	16	1	3	1	2	1	1	0	3	2	3	1	3	1	3	1	3	1	1	1			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:91873445C>A	ENST00000373094.1	+	7	4395	c.3550C>A	c.(3550-3552)Cac>Aac	p.H1184N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1166N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1176N|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1147N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1174N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1147N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1184					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTACTCAGCACCACAGCCC	0.592																																					NSCLC(38;925 1092 2571 38200 45895)												0													213	164	181					X																	91873445		2203	4300	6503	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3550C>A	X.37:g.91873445C>A	ENSP00000362186:p.His1184Asn		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H1184N	ENST00000373094.1	37	c.3550	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	4.749	0.139336	0.09083	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.49720	0.77;0.79;0.78;0.77;0.79;0.78	3.82	-0.106	0.13596	.	.	.	.	.	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.13594	0.008;0.008;0.008;0.008;0.005	B;B;B;B;B	0.13407	0.009;0.009;0.009;0.009;0.004	T	0.24476	-1.0159	9	0.12103	T	0.63	.	3.9341	0.09298	0.0:0.3052:0.3506:0.3441	.	1147;1166;1176;1174;1184	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	N	1184;1174;1147;1166;1176;1184;1147	ENSP00000362186:H1184N;ENSP00000362189:H1174N;ENSP00000362180:H1147N;ENSP00000355105:H1166N;ENSP00000384758:H1176N;ENSP00000298274:H1147N	ENSP00000298274:H1147N	H	+	1	0	PCDH11X	91760101	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.363000	0.20301	-0.032000	0.13758	0.370000	0.22315	CAC	PCDH11X	-	NULL	ENSG00000102290		0.592	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	65	0	C	NM_032969		91873445	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	76.83	19	63	SNP	0.000	A	A	91873445	C	A	91873445	3	1	54	1	0	0	0	0	1	0	0	0	11547	710	25	3	3698	3	PCDH11X	23	91873445	Missense_Mutation	SNP	C	TCGA-L5-A4OE-01A-11D-A27G-09	6654500	91873445	63397115	377	13671											
RBM41	55285	genome.wustl.edu	37	chrX	106310814	106310814	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgatatgagagaagtcgcTtggagatttgaccgttgctt	10	13	12	6	2	0	5	0	3	0	2	1	7	0	5	1	1	1	3	1	1	2	5			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:106310814T>C	ENST00000372479.3	-	7	1215	c.1185A>G	c.(1183-1185)caA>caG	p.Q395Q	RBM41_ENST00000372487.1_Silent_p.Q395Q	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	395							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						GAGAAGTCGCTTGGAGATTTG	0.378																																																	0													220	207	211					X																	106310814		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1185A>G	X.37:g.106310814T>C			Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q395	ENST00000372479.3	37	c.1185	CCDS14526.1	X																																																																																			RBM41	-	NULL	ENSG00000089682		0.378	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM41	HGNC	protein_coding	OTTHUMT00000057819.1	-	0	30	0	T	NM_018301		106310814	-1	tier1	-	no_errors	ENST00000372479	ensembl	human	known	74_37	silent	62.50	12	20	SNP	0.015	C	C	106310814	T	C	106310814	2	2	54	1	0	0	0	0	0	0	0	1	13180	1606	56	4		4	RBM41	23	106310814	Silent	SNP	T	TCGA-L5-A4OE-01A-11D-A27G-09	14437369	106310814	48959746	378	13672											
ODZ1	10178	genome.wustl.edu	37	chrX	123838998	123838998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggtgcttcgaggaagagGcctgggagggggcgagtaca	11	5	19	6	2	0	1	0	0	0	1	1	5	0	3	1	6	2	2	1	6	3	2	rs138121113		TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:123838998G>T	ENST00000371130.3	-	5	943	c.880C>A	c.(880-882)Cct>Act	p.P294T	TENM1_ENST00000422452.2_Missense_Mutation_p.P294T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	294	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGAGGAAGAGGCCTGGGAGGG	0.522																																																	0													144	133	136					X																	123838998		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.880C>A	X.37:g.123838998G>T	ENSP00000360171:p.Pro294Thr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.P294T	ENST00000371130.3	37	c.880	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378137	0.82682	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.33438	1.41;1.41	5.39	5.39	0.77823	Teneurin intracellular, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.984;0.989	T	0.54774	-0.8243	10	0.46703	T	0.11	.	18.4435	0.90676	0.0:0.0:1.0:0.0	.	294;294;294	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	T	294	ENSP00000360171:P294T;ENSP00000403954:P294T	ENSP00000360171:P294T	P	-	1	0	ODZ1	123666679	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.767000	0.98960	2.384000	0.81235	0.523000	0.50628	CCT	TENM1	-	pfam_Ten_N	ENSG00000009694		0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	29	0	G	NM_014253		123838998	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	75.86	7	22	SNP	1.000	T	T	123838998	G	T	123838998	3	4	54	1	0	0	0	0	1	0	0	0	10873	1203	42	3	7430	3	ODZ1	23	123838998	Missense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	17528184	123838998	31431562	379	13673											
IGSF1	3547	genome.wustl.edu	37	chrX	130416537	130416537	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattgttgaggaagaatGatgtgttgtcatcgatgctg	10	15	12	4	1	1	3	1	2	0	1	2	5	1	4	0	1	2	3	0	1	3	4			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:130416537G>T	ENST00000361420.3	-	7	1206	c.1127C>A	c.(1126-1128)tCa>tAa	p.S376*	IGSF1_ENST00000370910.1_Nonsense_Mutation_p.S367*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.S376*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.S367*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	376	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGGAAGAATGATGTGTTGTC	0.453																																																	0													210	166	181					X																	130416537		2203	4300	6503	SO:0001587	stop_gained	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1127C>A	X.37:g.130416537G>T	ENSP00000355010:p.Ser376*		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S376*	ENST00000361420.3	37	c.1127	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749275	0.69533	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	4.78	3.92	0.45320	.	0.836195	0.10105	N	0.715505	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	8.06	0.30627	0.1123:0.0:0.8877:0.0	.	.	.	.	X	367;376;367;376	.	ENSP00000355010:S376X	S	-	2	0	IGSF1	130244218	0.998000	0.40836	0.917000	0.36280	0.023000	0.10783	2.392000	0.44433	1.153000	0.42468	0.594000	0.82650	TCA	IGSF1	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000147255		0.453	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	-	0	38	0	G			130416537	-1	tier1	-	no_errors	ENST00000370903	ensembl	human	known	74_37	nonsense	67.31	17	35	SNP	0.871	T	T	130416537	G	T	130416537	4	4	54	1	0	0	0	0	0	1	0	0	7623	1294	45	3	2954	3	IGSF1	23	130416537	Nonsense_Mutation	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	6577539	130416537	24854023	380	13674											
USP26	83844	genome.wustl.edu	37	chrX	132161455	132161455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccttgttgtaacagaaatAccaaaaccattttctcagtg	14	12	5	10	0	1	1	1	0	1	1	2	1	1	1	3	0	3	2	3	0	5	6			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:132161455A>G	ENST00000511190.1	-	6	1263	c.794T>C	c.(793-795)gTa>gCa	p.V265A	USP26_ENST00000406273.1_Missense_Mutation_p.V265A|USP26_ENST00000370832.1_Missense_Mutation_p.V265A	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	265					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TAACAGAAATACCAAAACCAT	0.383																																					NSCLC(104;342 1621 36940 47097 52632)												0													90	77	81					X																	132161455		2203	4300	6503	SO:0001583	missense	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.794T>C	X.37:g.132161455A>G	ENSP00000423390:p.Val265Ala		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.V265A	ENST00000511190.1	37	c.794	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.568259	0.00895	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.52057	0.68;0.68;0.68	4.01	1.18	0.20946	.	1.208140	0.06459	N	0.729142	T	0.15782	0.0380	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26430	-1.0103	10	0.02654	T	1	-0.0012	2.8839	0.05656	0.3489:0.0:0.4506:0.2005	.	265	Q9BXU7	UBP26_HUMAN	A	265	ENSP00000359869:V265A;ENSP00000423390:V265A;ENSP00000384360:V265A	ENSP00000359869:V265A	V	-	2	0	USP26	131989121	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.152000	0.10159	-0.105000	0.12132	-0.272000	0.10252	GTA	USP26	-	NULL	ENSG00000134588		0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	-	0	27	0	A	NM_031907		132161455	-1	tier1	-	no_errors	ENST00000370832	ensembl	human	known	74_37	missense	58.62	12	17	SNP	0.000	G	G	132161455	A	G	132161455	3	3	54	1	0	0	0	0	1	0	0	0	17106	391	14	4	1950	4	USP26	23	132161455	Missense_Mutation	SNP	A	TCGA-L5-A4OE-01A-11D-A27G-09	1744918	132161455	23109105	381	13675											
ZNF185	7739	genome.wustl.edu	37	chrX	152097182	152097182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggactccgcctggtGgccccagacgtggaaggcat	8	5	16	12	2	0	1	0	0	0	1	1	3	1	3	4	6	0	2	4	6	1	0			TCGA-L5-A4OE-01A-11D-A27G-09	TCGA-L5-A4OE-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5e93d5d-1a31-4968-ba2f-9a5aea90c8f5	f5a7b9b7-93ee-4402-bdbb-f582ed0568b5	g.chrX:152097182G>T	ENST00000370268.4	+	12	928	c.891G>T	c.(889-891)gtG>gtT	p.V297V	ZNF185_ENST00000370270.2_Silent_p.V297V|ZNF185_ENST00000449285.2_Silent_p.V298V|ZNF185_ENST00000535861.1_Silent_p.V297V|ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000324823.6_Silent_p.V133V|ZNF185_ENST00000539731.1_Intron			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	297						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCCTGGTGGCCCCAGACG	0.612																																																	0													44	50	48					X																	152097182		1990	4150	6140	SO:0001819	synonymous_variant	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.891G>T	X.37:g.152097182G>T			A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Silent	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.V297	ENST00000370268.4	37	c.891	CCDS48184.1	X	.	.	.	.	.	.	.	.	.	.	G	9.112	1.006815	0.19199	.	.	ENSG00000147394	ENST00000447088	.	.	.	3.09	1.26	0.21427	.	.	.	.	.	T	0.45617	0.1351	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24440	-1.0160	4	.	.	.	-0.311	3.7371	0.08515	0.1511:0.2534:0.5955:0.0	.	.	.	.	C	115	.	.	G	+	1	0	ZNF185	151847838	0.994000	0.37717	0.992000	0.48379	0.943000	0.58893	0.161000	0.16481	0.209000	0.20645	0.600000	0.82982	GGC	ZNF185	-	NULL	ENSG00000147394		0.612	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	-	0	53	0	G	NM_007150		152097182	1	tier1	-	no_errors	ENST00000370270	ensembl	human	known	74_37	silent	73.44	17	47	SNP	0.986	T	T	152097182	G	T	152097182	2	4	54	1	0	0	0	0	0	0	0	1	17800	1335	47	3		3	ZNF185	23	152097182	Silent	SNP	G	TCGA-L5-A4OE-01A-11D-A27G-09	19935727	152097182	3173378	382	13676											
RPL11	6135	genome.wustl.edu	37	chr1	24021225	24021225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggatccaggaacacatcGatctgggtatcaaatatgac	13	10	10	8	1	2	1	1	1	1	0	4	4	3	3	1	3	1	1	1	3	4	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:24021225G>T	ENST00000374550.3	+	4	385	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	114					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGAACACATCGATCTGGGTAT	0.428																																																	0													153	147	149					1																	24021225		2203	4300	6503	SO:0001583	missense	0			L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"L ribosomal proteins"	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.340G>T	1.37:g.24021225G>T	ENSP00000363676:p.Asp114Tyr		P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	p.D114Y	ENST00000374550.3	37	c.340	CCDS238.1	1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695098	0.68386	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	T;T;T	0.77229	-1.08;-1.08;-1.08	5.71	5.71	0.89125	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	H	0.98276	4.19	0.80722	D	1	P;P	0.45474	0.637;0.859	P;P	0.57548	0.624;0.823	D	0.94234	0.7479	10	0.59425	D	0.04	-12.9457	19.8621	0.96787	0.0:0.0:1.0:0.0	.	113;114	P62913-2;P62913	.;RL11_HUMAN	Y	114;112;112	ENSP00000363676:D114Y;ENSP00000390839:D112Y;ENSP00000398888:D112Y	ENSP00000363676:D114Y	D	+	1	0	RPL11	23893812	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	9.660000	0.98599	2.705000	0.92388	0.556000	0.70494	GAT	RPL11	-	pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5	ENSG00000142676		0.428	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL11	HGNC	protein_coding	OTTHUMT00000008168.1	-	0	54	0	G	NM_000975		24021225	1	tier1	-	no_errors	ENST00000374550	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	24021225	G	T	24021225	3	4	55	1	0	0	0	0	1	0	0	0	13602	1058	37	2	354	2	RPL11	1	24021225	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		24021225	225229396	1	13677											
ZMYM1	79830	genome.wustl.edu	37	chr1	35578791	35578791	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagttaaaggtaaatcaCgaagtattaaaaaatcttgt	21	11	6	3	1	2	0	1	0	1	0	2	1	2	0	0	1	0	3	0	1	11	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:35578791C>T	ENST00000373330.1	+	11	1534	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.R454*|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	454			R -> Q (in dbSNP:rs7552714).			nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGTAAATCACGAAGTATTAA	0.303																																																	0													51	49	50					1																	35578791		1819	4065	5884	SO:0001587	stop_gained	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1360C>T	1.37:g.35578791C>T	ENSP00000362427:p.Arg454*		D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.R454*	ENST00000373330.1	37	c.1360	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904676	0.52333	.	.	ENSG00000197056	ENST00000417119;ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	4.79	0.707	0.18139	.	1.078430	0.07280	N	0.870576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6517	11.3907	0.49813	0.3388:0.5519:0.1092:0.0	.	.	.	.	X	454;454;379;454	.	ENSP00000352920:R454X	R	+	1	2	ZMYM1	35351378	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.377000	0.20552	-0.048000	0.13401	-2.726000	0.00130	CGA	ZMYM1	-	NULL	ENSG00000197056		0.303	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1		0	26	0	C	NM_024772		35578791	1			no_errors	ENST00000359858	ensembl	human	novel	74_37	nonsense	8.82	31	3	SNP	0.001	T	T	35578791	C	T	35578791	4	4	55	1	0	0	0	0	0	1	0	0	17747	528	19	1	1394	1	ZMYM1	1	35578791	Nonsense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	11557566	35578791	213671830	2	13678											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52991245	52991245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacttacttaaatcgtcCgatacgtcttcaattcctga	12	14	5	10	3	2	2	1	2	1	0	5	3	4	2	2	0	2	0	2	0	6	5	rs561083592		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:52991245C>T	ENST00000371544.3	-	2	970	c.708G>A	c.(706-708)tcG>tcA	p.S236S	ZCCHC11_ENST00000257177.4_Silent_p.S236S|ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Silent_p.S236S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	236					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTAAATCGTCCGATACGTCTT	0.343													C|||	1	0.000199681	8e-04	0	5008	,	,		18629	0		0	False		,,,				2504	0																0													88	85	86					1																	52991245		2203	4300	6503	SO:0001819	synonymous_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.708G>A	1.37:g.52991245C>T			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S236	ENST00000371544.3	37	c.708	CCDS30716.1	1																																																																																			ZCCHC11	-	NULL	ENSG00000134744		0.343	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0	46	0	C	XM_038288		52991245	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.000	T	T	52991245	C	T	52991245	2	4	55	1	0	0	0	0	0	0	0	1	17628	639	23	1		1	ZCCHC11	1	52991245	Silent	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	17412454	52991245	196259376	3	13679											
RRP15	51018	genome.wustl.edu	37	chr1	218475671	218475671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaccacttttattctGatgatgacgcaatagaagct	15	11	8	7	1	1	4	0	3	1	1	1	5	1	5	1	1	1	2	1	1	6	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:218475671G>T	ENST00000366932.3	+	2	205	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	59						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTTTTATTCTGATGATGACGC	0.438																																																	0													135	138	137					1																	218475671		2203	4300	6503	SO:0001583	missense	0				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.175G>T	1.37:g.218475671G>T	ENSP00000355899:p.Asp59Tyr			Missense_Mutation	SNP	pfam_DUF1665	p.D59Y	ENST00000366932.3	37	c.175	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326939	0.81690	.	.	ENSG00000067533	ENST00000366932	T	0.29142	1.58	5.27	3.23	0.37069	.	0.698537	0.14490	N	0.316389	T	0.29389	0.0732	L	0.27053	0.805	0.27991	N	0.935664	D	0.54397	0.966	P	0.49708	0.62	T	0.09015	-1.0694	10	0.26408	T	0.33	-12.4923	13.9091	0.63855	0.0:0.0:0.7174:0.2826	.	59	Q9Y3B9	RRP15_HUMAN	Y	59	ENSP00000355899:D59Y	ENSP00000355899:D59Y	D	+	1	0	RRP15	216542294	0.998000	0.40836	0.784000	0.31847	0.520000	0.34377	3.124000	0.50461	1.437000	0.47472	0.650000	0.86243	GAT	RRP15	-	NULL	ENSG00000067533		0.438	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1		0	22	0	G	NM_016052		218475671	1			no_errors	ENST00000366932	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.967	T	T	218475671	G	T	218475671	3	4	55	1	0	0	0	0	1	0	0	0	13732	1290	45	3	181	3	RRP15	1	218475671	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	165484426	218475671	30774950	4	13680											
MIXL1	83881	genome.wustl.edu	37	chr1	226413489	226413489	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcatgggaggaacacatCttttctgcctttggtaactt	9	14	9	9	0	3	0	1	0	2	0	3	3	3	2	1	3	3	1	1	3	2	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:226413489C>A	ENST00000366810.5	+	2	739	c.675C>A	c.(673-675)atC>atA	p.I225I	MIXL1_ENST00000557734.1_3'UTR|MIXL1_ENST00000542034.1_Silent_p.I233I			Q9H2W2	MIXL1_HUMAN	Mix paired-like homeobox	225					cell migration involved in gastrulation (GO:0042074)|digestive tract development (GO:0048565)|endoderm development (GO:0007492)|endodermal cell differentiation (GO:0035987)|gastrulation (GO:0007369)|heart development (GO:0007507)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)|positive regulation of mesoderm development (GO:2000382)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		AGGAACACATCTTTTCTGCCT	0.488																																					Pancreas(72;1302 1881 20981 22800)												0													143	139	141					1																	226413489		2203	4300	6503	SO:0001819	synonymous_variant	0			AF211891	CCDS1552.1, CCDS60432.1	1q42.12	2011-06-20	2011-06-01		ENSG00000185155	ENSG00000185155		"Homeoboxes / PRD class"	13363	protein-coding gene	gene with protein product		609852	"Mix1 homeobox (Xenopus laevis)-like 1", "Mix1 homeobox-like 1 (Xenopus laevis)"			12095687, 12070013	Standard	NM_031944		Approved	MILD1, MIXL	uc010pvm.2	Q9H2W2	OTTHUMG00000037558	ENST00000366810.5:c.675C>A	1.37:g.226413489C>A			B7ZLF9	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.I225	ENST00000366810.5	37	c.675	CCDS1552.1	1																																																																																			MIXL1	-	NULL	ENSG00000185155		0.488	MIXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIXL1	HGNC	protein_coding	OTTHUMT00000091526.3	-	0	46	0	C			226413489	1	tier1	-	no_errors	ENST00000366810	ensembl	human	known	74_37	silent	16.67	55	11	SNP	1.000	A	A	226413489	C	A	226413489	2	1	55	1	0	0	0	0	0	0	0	1	9635	903	32	3		3	MIXL1	1	226413489	Silent	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	7937818	226413489	22837132	5	13681											
ZNF678	339500	genome.wustl.edu	37	chr1	227843162	227843162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattcatactggagtgaaacCctacaaatgtgaagaatgtg	16	10	9	6	0	1	3	1	2	0	1	1	4	1	4	1	1	3	0	1	1	7	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:227843162C>T	ENST00000343776.5	+	4	1556	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	ZNF678_ENST00000397097.3_Missense_Mutation_p.P459L|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGAGTGAAACCCTACAAATGT	0.383																																																	0													34	37	36					1																	227843162		2202	4298	6500	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1211C>T	1.37:g.227843162C>T	ENSP00000344828:p.Pro404Leu		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P459L	ENST00000343776.5	37	c.1376		1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120451	0.56613	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.17054	2.3;2.3	1.63	1.63	0.23807	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35970	0.0950	M	0.72479	2.2	0.52501	D	0.99995	D	0.64830	0.994	D	0.77004	0.989	T	0.12293	-1.0553	9	0.66056	D	0.02	.	9.1842	0.37160	0.0:1.0:0.0:0.0	.	404	Q5SXM1	ZN678_HUMAN	L	404;459	ENSP00000344828:P404L;ENSP00000440403:P459L	ENSP00000344828:P404L	P	+	2	0	ZNF678	225909785	0.048000	0.20356	0.052000	0.19188	0.141000	0.21300	1.655000	0.37345	0.792000	0.33850	0.609000	0.83330	CCC	ZNF678	-	pfscan_Znf_C2H2	ENSG00000181450		0.383	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2		0	21	0	C	NM_178549		227843162	1			no_errors	ENST00000397097	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.998	T	T	227843162	C	T	227843162	3	4	55	1	0	0	0	0	1	0	0	0	18133	623	22	3	1390	3	ZNF678	1	227843162	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	1429673	227843162	21407459	6	13682											
OR2T11	127077	genome.wustl.edu	37	chr1	248790424	248790424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtcagaggatgatgtgttCgtcattgatatggcccacga	11	11	12	7	2	2	3	2	2	0	1	3	5	2	4	1	2	0	1	1	2	2	3	rs200548184	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr1:248790424C>T	ENST00000330803.2	-	1	67	c.6G>A	c.(4-6)acG>acA	p.T2T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGATGTGTTCGTCATTGATA	0.547																																																	0													32	38	36					1																	248790424		2019	4230	6249	SO:0001819	synonymous_variant	0			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"GPCR / Class A : Olfactory receptors"	19574	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 11"				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.6G>A	1.37:g.248790424C>T			Q6IEY6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T2	ENST00000330803.2	37	c.6	CCDS31122.1	1																																																																																			OR2T11	-	NULL	ENSG00000183130		0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T11	HGNC	protein_coding	OTTHUMT00000097134.1	-	0	54	0	C	NM_001001964		248790424	-1	tier1	-	no_errors	ENST00000330803	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.253	T	T	248790424	C	T	248790424	2	4	55	1	0	0	0	0	0	0	0	1	11057	871	31	1		1	OR2T11	1	248790424	Silent	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	20947262	248790424	460197	7	13683											
CCDC88A	55704	genome.wustl.edu	37	chr2	55523495	55523495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgatgtcgactctccaGtgtttcagatattttgtgct	6	18	9	8	1	2	2	1	1	1	1	4	3	2	2	1	0	1	2	1	0	1	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:55523495G>C	ENST00000436346.1	-	30	5831	c.4990C>G	c.(4990-4992)Ctg>Gtg	p.L1664V	CCDC88A_ENST00000422883.2_Missense_Mutation_p.L165V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L1663V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L1663V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L1636V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1664					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CGACTCTCCAGTGTTTCAGAT	0.448																																																	0													161	134	143					2																	55523495		2203	4300	6503	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4990C>G	2.37:g.55523495G>C	ENSP00000410608:p.Leu1664Val		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.L1664V	ENST00000436346.1	37	c.4990		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	0.356|0.356|0.356	-0.942124|-0.942124|-0.942124	0.02322|0.02322|0.02322	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000444458|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000456975	.|T;T;T;T;T;T|.	.|0.44881|.	.|2.58;2.69;2.8;0.91;2.54;1.53|.	5.15|5.15|5.15	-2.79|-2.79|-2.79	0.05841|0.05841|0.05841	.|.|.	.|0.630083|.	.|0.12966|.	.|N|.	.|0.424555|.	T|T|T	0.18882|0.18882|0.18882	0.0453|0.0453|0.0453	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B;B;B;B|.	.|0.16603|.	.|0.0;0.0;0.0;0.018;0.0;0.0;0.0|.	.|B;B;B;B;B;B;B|.	.|0.14578|.	.|0.001;0.001;0.0;0.011;0.0;0.001;0.001|.	T|T|T	0.36065|0.36065|0.36065	-0.9763|-0.9763|-0.9763	5|10|6	.|0.17832|0.06236	.|T|T	.|0.49|0.91	2.6188|2.6188|2.6188	2.4158|2.4158|2.4158	0.04436|0.04436|0.04436	0.2492:0.3082:0.3373:0.1053|0.2492:0.3082:0.3373:0.1053|0.2492:0.3082:0.3373:0.1053	.|.|.	.|1663;1636;1581;165;1664;1663;1635|.	.|B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.	.|.;.;.;.;GRDN_HUMAN;.;.|.	Q|V|S	166|1663;1636;1664;165;681;1663;839|616	.|ENSP00000338728:L1663V;ENSP00000263630:L1636V;ENSP00000410608:L1664V;ENSP00000390012:L681V;ENSP00000404431:L1663V;ENSP00000405080:L839V|.	.|ENSP00000263630:L1636V|ENSP00000415267:T616S	H|L|T	-|-|-	3|1|2	2|2|0	CCDC88A|CCDC88A|CCDC88A	55376999|55376999|55376999	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.120000|0.120000|0.120000	0.21714|0.21714|0.21714	0.487000|0.487000|0.487000	0.33371|0.33371|0.33371	-0.485000|-0.485000|-0.485000	0.06520|0.06520|0.06520	-1.092000|-1.092000|-1.092000	0.03062|0.03062|0.03062	-0.218000|-0.218000|-0.218000	0.12543|0.12543|0.12543	CAC|CTG|ACT	CCDC88A	-	NULL	ENSG00000115355		0.448	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0	45	0	G	NM_017571		55523495	-1	tier1	-	no_errors	ENST00000436346	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.000	C	C	55523495	G	C	55523495	3	2	55	1	0	0	0	0	1	0	0	0	2870	1020	36	5	637	5	CCDC88A	2	55523495	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		55523495	187675878	8	13684											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746305	77746305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtaagtaaattgagcggagGttgaagagacgtggaaaatg	15	9	15	2	2	0	3	0	2	0	1	0	6	0	5	0	3	1	3	0	3	6	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:77746305G>A	ENST00000409093.1	-	3	1026	c.690C>T	c.(688-690)aaC>aaT	p.N230N	LRRTM4_ENST00000409282.1_Silent_p.N231N|LRRTM4_ENST00000409088.3_Silent_p.N230N|LRRTM4_ENST00000409884.1_Silent_p.N230N|LRRTM4_ENST00000409911.1_Silent_p.N231N			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	230					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTGAGCGGAGGTTGAAGAGAC	0.448																																																	0													62	60	61					2																	77746305		1883	4103	5986	SO:0001819	synonymous_variant	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.690C>T	2.37:g.77746305G>A			Q4FZ98|Q6UXJ7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N231	ENST00000409093.1	37	c.693	CCDS46346.1	2																																																																																			LRRTM4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.448	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	54	0	G	NM_024993		77746305	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	silent	20.00	52	13	SNP	1.000	A	A	77746305	G	A	77746305	2	1	55	1	0	0	0	0	0	0	0	1	9077	1252	44	3		3	LRRTM4	2	77746305	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	22222810	77746305	165453068	9	13685											
AFF3	3899	genome.wustl.edu	37	chr2	100210027	100210027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcattcccggaggaggcaGaggcagccacggtctgtgct	8	7	15	11	2	2	1	1	0	1	1	3	4	3	3	2	5	2	3	2	5	0	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:100210027G>T	ENST00000409236.2	-	13	2208	c.2096C>A	c.(2095-2097)tCt>tAt	p.S699Y	AFF3_ENST00000356421.2_Missense_Mutation_p.S724Y|AFF3_ENST00000317233.4_Missense_Mutation_p.S699Y|AFF3_ENST00000409579.1_Missense_Mutation_p.S724Y			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	699					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.S724F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGAGGCAGAGGCAGCCAC	0.617																																																	1	Substitution - Missense(1)	lung(1)											53	59	57					2																	100210027		2202	4297	6499	SO:0001583	missense	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2096C>A	2.37:g.100210027G>T	ENSP00000387207:p.Ser699Tyr		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S724Y	ENST00000409236.2	37	c.2171	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	G	10.84	1.463704	0.26335	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	4.9	4.9	0.64082	.	2.485370	0.01594	N	0.021720	T	0.73760	0.3628	L	0.34521	1.04	0.09310	N	0.999999	P;P;P	0.51791	0.948;0.642;0.763	P;B;B	0.52386	0.697;0.144;0.354	T	0.68074	-0.5505	10	0.59425	D	0.04	.	16.8503	0.85992	0.0:0.0:1.0:0.0	.	852;699;724	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	Y	699;724;724;699;699;852;724	ENSP00000317421:S699Y;ENSP00000348793:S724Y;ENSP00000386834:S724Y;ENSP00000387207:S699Y	ENSP00000317421:S699Y	S	-	2	0	AFF3	99576459	0.001000	0.12720	0.753000	0.31225	0.177000	0.22998	0.725000	0.25970	2.275000	0.75901	0.561000	0.74099	TCT	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.617	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0	41	0	G	NM_002285		100210027	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.981	T	T	100210027	G	T	100210027	3	4	55	1	0	0	0	0	1	0	0	0	358	942	33	3	1628	3	AFF3	2	100210027	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	22463722	100210027	142989346	10	13686											
C2orf40	84417	genome.wustl.edu	37	chr2	106690370	106690370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactaagactaaagtggcCgttgatgagaataaagccaa	17	7	9	8	1	0	3	0	2	0	2	0	4	0	3	3	1	2	1	3	1	8	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:106690370C>T	ENST00000238044.3	+	3	265	c.156C>T	c.(154-156)gcC>gcT	p.A52A	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Silent_p.A16A	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527																																																	0													127	140	136					2																	106690370		2203	4300	6503	SO:0001819	synonymous_variant	0			BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"esophageal cancer related gene 4 protein"	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.156C>T	2.37:g.106690370C>T			D3DVK2	Silent	SNP	NULL	p.A52	ENST00000238044.3	37	c.156	CCDS2072.1	2																																																																																			C2orf40	-	NULL	ENSG00000119147		0.527	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf40	HGNC	protein_coding	OTTHUMT00000253515.2	-	0	85	0	C	NM_032411		106690370	1	tier1	-	no_errors	ENST00000238044	ensembl	human	known	74_37	silent	23.38	59	18	SNP	0.018	T	T	106690370	C	T	106690370	2	4	55	1	0	0	0	0	0	0	0	1	2172	639	23	1		1	C2orf40	2	106690370	Silent	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	6480343	106690370	136509003	11	13687											
UGGT1	56886	genome.wustl.edu	37	chr2	128936114	128936114	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatattttctccgttgcAtctggtcatctctacgaaag	10	16	6	9	2	4	0	1	0	3	0	6	1	4	0	1	1	2	2	1	1	4	6			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:128936114A>G	ENST00000259253.6	+	34	3833	c.3786A>G	c.(3784-3786)gcA>gcG	p.A1262A	UGGT1_ENST00000375990.3_Silent_p.A1238A	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1262	Glucosyltransferase. {ECO:0000250}.				'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCTCCGTTGCATCTGGTCATC	0.348																																																	0													123	128	126					2																	128936114		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3786A>G	2.37:g.128936114A>G			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	pfam_UDP-g_GGtrans	p.A1262	ENST00000259253.6	37	c.3786	CCDS2154.1	2																																																																																			UGGT1	-	NULL	ENSG00000136731		0.348	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	30	0	A	NM_020120		128936114	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	silent	29.17	34	14	SNP	0.965	G	G	128936114	A	G	128936114	2	3	55	1	0	0	0	0	0	0	0	1	16990	204	8	4		4	UGGT1	2	128936114	Silent	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09	22245744	128936114	114263259	12	13688											
LYPD1	116372	genome.wustl.edu	37	chr2	133426048	133426048	+	Frame_Shift_Del	DEL	A	A	-																															attcacaatgaactcgggggAggagcagtcgttgttcagct																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:133426048delA	ENST00000397463.2	-	2	387	c.115delT	c.(115-117)tccfs	p.S39fs	AC010974.3_ENST00000450509.1_RNA|LYPD1_ENST00000345008.6_5'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	39	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						AACTCGGGGGAGGAGCAGTCG	0.557																																																	0													80	87	85					2																	133426048		1987	4168	6155	SO:0001589	frameshift_variant	0			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.115delT	2.37:g.133426048delA	ENSP00000380605:p.Ser39fs		H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Frame_Shift_Del	DEL	NULL	p.S39fs	ENST00000397463.2	37	c.115	CCDS42759.1	2																																																																																			LYPD1	-	NULL	ENSG00000150551		0.557	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD1	HGNC	protein_coding	OTTHUMT00000331821.1		0	43	0	A	NM_144586		133426048	-1	tier1		no_errors	ENST00000397463	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	133426048	A	-	133426048	7	5	55	1	0	1	0	1	0	0	0	0	9145	304	11	0	318	0	LYPD1	2	133426048	Frame_Shift_Del	DEL	A	TCGA-L5-A4OF-01A-11D-A27G-09	4489934	133426048	109773325	13	13689											
NEB	4703	genome.wustl.edu	37	chr2	152348986	152348986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccttgtatttgtttcCggaaactatcagaataaaga	12	15	7	7	1	1	2	1	0	0	2	2	3	2	3	2	1	2	2	2	1	6	7			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr2:152348986C>T	ENST00000172853.10	-	144	19367	c.19220G>A	c.(19219-19221)cGg>cAg	p.R6407Q	NEB_ENST00000427231.2_Missense_Mutation_p.R8263Q|NEB_ENST00000604864.1_Missense_Mutation_p.R8263Q|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397345.3_Missense_Mutation_p.R8263Q|NEB_ENST00000397336.2_Missense_Mutation_p.R238Q|NEB_ENST00000603639.1_Missense_Mutation_p.R8263Q|RIF1_ENST00000457745.1_Intron|NEB_ENST00000409198.1_Missense_Mutation_p.R6407Q|NEB_ENST00000509223.2_Missense_Mutation_p.R176Q			P20929	NEBU_HUMAN	nebulin	6407					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATTTGTTTCCGGAAACTATC	0.483																																																	0													84	87	86					2																	152348986		1878	4113	5991	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19220G>A	2.37:g.152348986C>T	ENSP00000172853:p.Arg6407Gln		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R8263Q	ENST00000172853.10	37	c.24788		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423854|5.423854	0.96111|0.96111	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.46063	.|0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.176577	.|0.50627	.|D	.|0.000120	T|T	0.59418|0.59418	0.2192|0.2192	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|D;D;P;D;P;D	.|0.76494	.|0.999;0.996;0.9;0.999;0.95;0.995	.|D;D;B;D;B;D	.|0.80764	.|0.994;0.939;0.362;0.948;0.316;0.935	T|T	0.52931|0.52931	-0.8509|-0.8509	5|10	.|0.35671	.|T	.|0.21	.|.	19.2633|19.2633	0.93977|0.93977	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|176;238;176;6407;2745;8263	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	R|Q	397;504|6407;8263;8263;2363;2745;6407;238;176	.|ENSP00000386259:R6407Q;ENSP00000380505:R8263Q;ENSP00000416578:R8263Q;ENSP00000410961:R2745Q;ENSP00000172853:R6407Q;ENSP00000380497:R238Q;ENSP00000427083:R176Q	.|ENSP00000172853:R6407Q	G|R	-|-	1|2	0|0	NEB|NEB	152057232|152057232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.651000|7.651000	0.83577|0.83577	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	GGA|CGG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	49	0	C	NM_004543		152348986	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	T	T	152348986	C	T	152348986	3	4	55	1	0	0	0	0	1	0	0	0	10341	652	23	1	813	1	NEB	2	152348986	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	18922938	152348986	90850387	14	13690											
QARS	5859	genome.wustl.edu	37	chr3	49135444	49135444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttccctgatggctgtctGgatccacggagaaatatcca	9	11	9	12	1	1	2	0	1	1	1	4	4	4	3	4	3	0	1	4	3	2	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:49135444G>T	ENST00000306125.6	-	23	2595	c.2258C>A	c.(2257-2259)cCa>cAa	p.P753Q	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.P742Q			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	753					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)	p.P753L(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ATGGCTGTCTGGATCCACGGA	0.522																																																	1	Substitution - Missense(1)	prostate(1)											141	138	139					3																	49135444		2203	4300	6503	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.2258C>A	3.37:g.49135444G>T	ENSP00000307567:p.Pro753Gln		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth	p.P753Q	ENST00000306125.6	37	c.2258	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543261	0.86022	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	T;T	0.21932	1.98;1.98	5.73	5.73	0.89815	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);	0.052941	0.85682	D	0.000000	T	0.35682	0.0940	L	0.41906	1.305	0.80722	D	1	D;D	0.56287	0.975;0.975	P;P	0.58454	0.839;0.839	T	0.00690	-1.1608	10	0.39692	T	0.17	-11.0261	19.5237	0.95195	0.0:0.0:1.0:0.0	.	742;753	B4DWJ2;P47897	.;SYQ_HUMAN	Q	753;742	ENSP00000307567:P753Q;ENSP00000390015:P742Q	ENSP00000307567:P753Q	P	-	2	0	QARS	49110448	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.297000	0.96120	2.721000	0.93114	0.655000	0.94253	CCA	QARS	-	superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth	ENSG00000172053		0.522	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2		0	44	0	G	NM_005051		49135444	-1			no_errors	ENST00000306125	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	49135444	G	T	49135444	3	4	55	1	0	0	0	0	1	0	0	0	12916	1348	47	3	77	3	QARS	3	49135444	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		49135444	148886986	15	13691											
FHIT	2272	genome.wustl.edu	37	chr3	59999860	59999860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgctccactggccgcAgcgggcacacaaggacatct	10	4	13	14	3	1	0	0	0	1	0	2	2	2	2	2	4	2	3	2	4	2	0			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:59999860A>G	ENST00000468189.1	-	6	492	c.122T>C	c.(121-123)cTg>cCg	p.L41P	FHIT_ENST00000476844.1_Missense_Mutation_p.L41P|FHIT_ENST00000341848.4_Missense_Mutation_p.L41P|FHIT_ENST00000492590.1_Missense_Mutation_p.L41P|FHIT_ENST00000466788.1_Intron			P49789	FHIT_HUMAN	fragile histidine triad	41	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CACTGGCCGCAGCGGGCACAC	0.527			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																															Dom	yes		3	3p14.2	2272	fragile histidine triad gene		E	0													74	74	74					3																	59999860		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"fragile histidine triad gene"			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.122T>C	3.37:g.59999860A>G	ENSP00000417480:p.Leu41Pro		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	p.L41P	ENST00000468189.1	37	c.122	CCDS2894.1	3	.	.	.	.	.	.	.	.	.	.	A	15.57	2.872090	0.51695	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.146158	0.47093	D	0.000259	D	0.94364	0.8188	M	0.76170	2.325	0.80722	D	1	D	0.63046	0.992	D	0.63793	0.918	D	0.94149	0.7404	9	.	.	.	-11.3071	15.0195	0.71617	1.0:0.0:0.0:0.0	.	41	P49789	FHIT_HUMAN	P	41	ENSP00000418582:L41P;ENSP00000417557:L41P;ENSP00000417480:L41P;ENSP00000342087:L41P;ENSP00000418596:L41P	.	L	-	2	0	FHIT	59974900	1.000000	0.71417	0.985000	0.45067	0.025000	0.11179	7.730000	0.84881	2.285000	0.76669	0.533000	0.62120	CTG	FHIT	-	pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like	ENSG00000189283		0.527	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FHIT	HGNC	protein_coding	OTTHUMT00000351648.1	-	0	17	0	A	NM_002012		59999860	-1	tier1	-	no_errors	ENST00000341848	ensembl	human	known	74_37	missense	62.50	6	10	SNP	0.998	G	G	59999860	A	G	59999860	3	3	55	1	0	0	0	0	1	0	0	0	5899	188	7	4	337	4	FHIT	3	59999860	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09	10864416	59999860	138022570	16	13692											
SENP7	57337	genome.wustl.edu	37	chr3	101056352	101056352	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacattagaggattaacttaCgaaagatttggattatcttc	14	15	7	5	1	1	2	0	0	1	2	2	5	1	4	0	2	3	0	0	2	6	7			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:101056352C>T	ENST00000394095.2	-	17	2534		c.e17+1		SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000314261.7_Splice_Site	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7							intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATTAACTTACGAAAGATTTG	0.303																																																	0													43	45	44					3																	101056352		2202	4294	6496	SO:0001630	splice_region_variant	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2480+1G>A	3.37:g.101056352C>T			A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Splice_Site	SNP	-	e17+1	ENST00000394095.2	37	c.2480+1	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330495	0.81690	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5732	0.87941	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SENP7	102539042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.603000	0.74145	2.674000	0.91012	0.655000	0.94253	.	SENP7	-	-	ENSG00000138468		0.303	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2	-	0	50	0	C	NM_020654	Intron	101056352	-1	tier1	-	no_errors	ENST00000394095	ensembl	human	known	74_37	splice_site	40.91	26	18	SNP	1.000	T	T	101056352	C	T	101056352	5	4	55	1	0	0	0	0	0	0	1	0	14096	550	19	1	703	1	SENP7	3	101056352	Splice_Site	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	41056492	101056352	96966078	17	13693											
ATP2C1	27032	genome.wustl.edu	37	chr3	130683834	130683834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataaaactggaacactgaCgaagaatgaaatgactgtta	19	8	9	5	1	0	5	0	3	0	2	0	7	0	6	0	1	2	1	0	1	7	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:130683834C>A	ENST00000510168.1	+	14	1617	c.1067C>A	c.(1066-1068)aCg>aAg	p.T356K	ATP2C1_ENST00000504381.1_Missense_Mutation_p.T301K|ATP2C1_ENST00000428331.2_Missense_Mutation_p.T356K|ATP2C1_ENST00000505330.1_Missense_Mutation_p.T340K|ATP2C1_ENST00000508532.1_Missense_Mutation_p.T356K|ATP2C1_ENST00000328560.8_Missense_Mutation_p.T356K|ATP2C1_ENST00000533801.2_Missense_Mutation_p.T351K|ATP2C1_ENST00000359644.3_Missense_Mutation_p.T356K|ATP2C1_ENST00000507488.2_Missense_Mutation_p.T340K|ATP2C1_ENST00000504948.1_Missense_Mutation_p.T340K|ATP2C1_ENST00000422190.2_Missense_Mutation_p.T356K|ATP2C1_ENST00000513801.1_Missense_Mutation_p.T340K|ATP2C1_ENST00000393221.4_Missense_Mutation_p.T390K			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	356					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGAACACTGACGAAGAATGAA	0.333									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													154	141	145					3																	130683834		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1067C>A	3.37:g.130683834C>A	ENSP00000427461:p.Thr356Lys		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.T390K	ENST00000510168.1	37	c.1169	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.131049	0.94473	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421;ENST00000515854	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99282	-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-4.53;-5.68	5.53	5.53	0.82687	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	H	0.99197	4.465	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97010	0.9735	10	0.87932	D	0	.	19.8113	0.96547	0.0:1.0:0.0:0.0	.	390;351;390;356;390;356;356	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	K	340;301;340;390;351;356;356;340;340;356;356;356;356;355;95	ENSP00000423774:T340K;ENSP00000425320:T301K;ENSP00000421326:T340K;ENSP00000376914:T390K;ENSP00000432956:T351K;ENSP00000427461:T356K;ENSP00000424783:T356K;ENSP00000423330:T340K;ENSP00000422872:T340K;ENSP00000329664:T356K;ENSP00000395809:T356K;ENSP00000352665:T356K;ENSP00000402677:T356K;ENSP00000422890:T95K	ENSP00000329664:T356K	T	+	2	0	ATP2C1	132166524	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.442000	0.80503	2.746000	0.94184	0.561000	0.74099	ACG	ATP2C1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000017260		0.333	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2		0	65	0	C	NM_001001486		130683834	1			no_errors	ENST00000393221	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	130683834	C	A	130683834	3	1	55	1	0	0	0	0	1	0	0	0	1144	536	19	2	1117	2	ATP2C1	3	130683834	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	29627482	130683834	67338596	18	13694											
IL20RB	53833	genome.wustl.edu	37	chr3	136699396	136699396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagcccagtgatcgcGcctggagaaacagtgtacta	11	8	13	9	2	0	2	0	1	0	1	1	4	0	3	2	2	3	1	2	2	3	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:136699396G>A	ENST00000329582.4	+	2	426	c.177G>A	c.(175-177)gcG>gcA	p.A59A	IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000309741.5_Silent_p.A12A|IL20RB_ENST00000484501.1_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	59	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CAGTGATCGCGCCTGGAGAAA	0.473																																																	0													205	196	199					3																	136699396		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	6004	protein-coding gene	gene with protein product		605621	"fibronectin type III domain containing 6"	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.177G>A	3.37:g.136699396G>A			B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.A59	ENST00000329582.4	37	c.177	CCDS3093.1	3																																																																																			IL20RB	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000174564		0.473	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RB	HGNC	protein_coding	OTTHUMT00000357277.2	-	0	81	0	G	NM_144717		136699396	1	tier1	-	no_errors	ENST00000329582	ensembl	human	known	74_37	silent	31.11	62	28	SNP	0.000	A	A	136699396	G	A	136699396	2	1	55	1	0	0	0	0	0	0	0	1	7696	1074	38	1		1	IL20RB	3	136699396	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	6015562	136699396	61323034	19	13695											
PSMD2	5708	genome.wustl.edu	37	chr3	184019404	184019404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcaagtatcggctagtggGctcccaggaggaattggcat	9	9	13	10	1	1	0	1	0	0	0	3	2	2	2	2	5	0	4	2	5	4	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr3:184019404G>T	ENST00000310118.4	+	4	995	c.437G>T	c.(436-438)gGc>gTc	p.G146V	PSMD2_ENST00000435761.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.G16V|PSMD2_ENST00000459910.1_3'UTR	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CGGCTAGTGGGCTCCCAGGAG	0.488																																					Colon(24;313 636 6917 9932 15554)												0													107	105	105					3																	184019404		2203	4300	6503	SO:0001583	missense	0			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"Proteasome (prosome, macropain) subunits"	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.437G>T	3.37:g.184019404G>T	ENSP00000310129:p.Gly146Val		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	p.G146V	ENST00000310118.4	37	c.437	CCDS3258.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470944	0.84533	.	.	ENSG00000175166	ENST00000310118;ENST00000417952;ENST00000538096;ENST00000439383	T;T;T	0.42900	1.95;1.95;0.96	4.48	4.48	0.54585	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77968	-0.2388	10	0.72032	D	0.01	-13.4426	17.3567	0.87338	0.0:0.0:1.0:0.0	.	146	Q13200	PSMD2_HUMAN	V	146;146;138;16	ENSP00000310129:G146V;ENSP00000414061:G146V;ENSP00000416028:G16V	ENSP00000310129:G146V	G	+	2	0	PSMD2	185502098	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.563000	0.98148	2.317000	0.78254	0.557000	0.71058	GGC	PSMD2	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1	ENSG00000175166		0.488	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD2	HGNC	protein_coding	OTTHUMT00000345843.1		0	61	0	G	NM_002808		184019404	1			no_errors	ENST00000310118	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	184019404	G	T	184019404	3	4	55	1	0	0	0	0	1	0	0	0	12740	1203	42	3	451	3	PSMD2	3	184019404	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	47320008	184019404	14003026	20	13696											
DCAF4L1	285429	genome.wustl.edu	37	chr4	41984592	41984592	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtagaaatcgaggcaagggGtggagggccactcgcctgtt	9	8	16	8	2	0	1	0	0	0	1	2	3	0	2	2	5	0	3	2	5	3	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:41984592G>C	ENST00000333141.5	+	1	880	c.783G>C	c.(781-783)ggG>ggC	p.G261G		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	261										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAGGCAAGGGGTGGAGGGCCA	0.527																																																	0													121	115	117					4																	41984592		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"WD repeat domain containing"	27723	protein-coding gene	gene with protein product			"WD repeat domain 21B"	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.783G>C	4.37:g.41984592G>C			B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G261	ENST00000333141.5	37	c.783	CCDS33978.1	4																																																																																			DCAF4L1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000182308		0.527	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L1	HGNC	protein_coding	OTTHUMT00000360958.1	-	0	43	0	G	NM_001029955		41984592	1	tier1	-	no_errors	ENST00000333141	ensembl	human	known	74_37	silent	26.00	37	13	SNP	0.996	C	C	41984592	G	C	41984592	2	2	55	1	0	0	0	0	0	0	0	1	4280	1248	44	5		5	DCAF4L1	4	41984592	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		41984592	149169684	21	13697											
GK2	2712	genome.wustl.edu	37	chr4	80327977	80327977	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcccctgctgccatggCagctcctagtgcagttgttt	5	12	11	13	0	0	0	0	0	0	0	1	0	1	0	4	1	6	7	4	1	1	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:80327977C>A	ENST00000358842.3	-	1	1395	c.1378G>T	c.(1378-1380)Gcc>Tcc	p.A460S		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GCTGCCATGGCAGCTCCTAGT	0.473																																																	0													89	92	91					4																	80327977		2203	4300	6503	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1378G>T	4.37:g.80327977C>A	ENSP00000351706:p.Ala460Ser		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.A460S	ENST00000358842.3	37	c.1378	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277616	0.59758	.	.	ENSG00000196475	ENST00000358842	D	0.95853	-3.83	4.11	4.11	0.48088	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	U	0.000000	D	0.98419	0.9474	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98643	1.0676	10	0.62326	D	0.03	-22.7702	14.652	0.68805	0.0:1.0:0.0:0.0	.	460	Q14410	GLPK2_HUMAN	S	460	ENSP00000351706:A460S	ENSP00000351706:A460S	A	-	1	0	GK2	80547001	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	6.927000	0.75840	2.584000	0.87258	0.585000	0.79938	GCC	GK2	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	ENSG00000196475		0.473	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	-	0	72	0	C	NM_033214		80327977	-1	tier1	-	no_errors	ENST00000358842	ensembl	human	known	74_37	missense	18.06	59	13	SNP	1.000	A	A	80327977	C	A	80327977	3	1	55	1	0	0	0	0	1	0	0	0	6447	710	25	3	287	3	GK2	4	80327977	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	38343385	80327977	110826299	22	13698											
ADH1C	126	genome.wustl.edu	37	chr4	100266378	100266378	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgggtttttacaaattCtgcattttccacactgagga	9	17	7	8	0	2	1	0	1	2	0	3	2	3	2	1	2	2	2	1	2	2	7			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:100266378C>T	ENST00000510055.1	-	0	479				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTACAAATTCTGCATTTTCC	0.363																																																	0													103	101	102					4																	100266378		2202	4300	6502			0			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"Alcohol dehydrogenases"	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100266378C>T			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Splice_Site	SNP	-	NULL	ENST00000510055.1	37	c.NULL		4																																																																																			ADH1C	-	-	ENSG00000248144		0.363	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	ADH1C	HGNC	polymorphic_pseudogene	OTTHUMT00000365189.2	-	0	59	0	C	NM_000669		100266378	-1	tier1	-	no_errors	ENST00000505942	ensembl	human	known	74_37	splice_site	13.33	65	10	SNP	0.000	T	T	100266378	C	T	100266378	1	4	55	0	1	0	0	0	0	0	0	0	309	913	32	3		3	ADH1C	4	100266378	RNA	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	19938401	100266378	90887898	23	13699											
BBS7	55212	genome.wustl.edu	37	chr4	122780222	122780222	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttccactggaaggcaGatcacatcattgattttatc	12	14	6	9	0	3	2	2	1	1	1	5	3	4	3	1	2	0	1	1	2	3	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:122780222G>T	ENST00000264499.4	-	5	636	c.453C>A	c.(451-453)atC>atA	p.I151I	BBS7_ENST00000506636.1_Silent_p.I151I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	151					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTGGAAGGCAGATCACATCAT	0.398									Bardet-Biedl syndrome																																								0													145	151	149					4																	122780222		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.453C>A	4.37:g.122780222G>T			Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.I151	ENST00000264499.4	37	c.453	CCDS3724.1	4																																																																																			BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.398	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1	-	0	49	0	G			122780222	-1	tier1	-	no_errors	ENST00000264499	ensembl	human	known	74_37	silent	34.15	27	14	SNP	1.000	T	T	122780222	G	T	122780222	2	4	55	1	0	0	0	0	0	0	0	1	1342	932	33	3		3	BBS7	4	122780222	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	22513844	122780222	68374054	24	13700											
MAML3	55534	genome.wustl.edu	37	chr4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-																															ctggagctgtggaggtggcgGctgctgctgctgctgctgct																								rs372496848		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)cagccg>ccg	p.Q650del	MAML3_ENST00000327122.5_In_Frame_Del_p.Q494del|MAML3_ENST00000398940.1_In_Frame_Del_p.Q178del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586																																																	0																																										SO:0001651	inframe_deletion	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1949_1951delAGC	4.37:g.140810648_140810650delGCT	ENSP00000421180:p.Gln650del			In_Frame_Del	DEL	pfam_Neuroggenic_mastermind-like_N	p.Q650in_frame_del	ENST00000509479.2	37	c.1951_1949	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.586	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2		0	88	0	GCT			140810641	-1	tier1		no_errors	ENST00000509479	ensembl	human	known	74_37	in_frame_del	16.24	98	19	DEL	0.196:0.001:0.000	-	-	140810641	GCT	-	140810639	7	5	55	1	0	1	0	1	0	0	0	0	9245	1203	42	0	1481	0	MAML3	4	140810639	In_Frame_Del	DEL	GCT	TCGA-L5-A4OF-01A-11D-A27G-09	18030417	140810639	50343637	25	13701											
FAT1	2195	genome.wustl.edu	37	chr4	187628345	187628345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcgatccagagggcgtgcGatgttaacaacacccgtcac	10	8	10	13	4	2	1	1	0	1	1	4	3	3	1	2	1	3	1	2	1	2	1	rs572738553		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr4:187628345G>A	ENST00000441802.2	-	2	2846	c.2637C>T	c.(2635-2637)atC>atT	p.I879I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	879	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGGGCGTGCGATGTTAACAA	0.522										HNSCC(5;0.00058)			g|||	1	0.000199681	0	0	5008	,	,		20610	0.001		0	False		,,,				2504	0				Colon(197;1040 2055 4143 4984 49344)												0													118	114	115					4																	187628345		2047	4196	6243	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2637C>T	4.37:g.187628345G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.I879	ENST00000441802.2	37	c.2637	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0	13	0	G	NM_005245		187628345	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	silent	52.94	8	9	SNP	0.000	A	A	187628345	G	A	187628345	2	1	55	1	0	0	0	0	0	0	0	1	5711	1048	37	1		1	FAT1	4	187628345	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	46817706	187628345	3525931	26	13702											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140711390	140711390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggactcaggagacaatgGctacaccacatgtttcattc	12	9	8	12	0	2	1	2	0	0	1	3	3	2	2	2	3	1	2	2	3	2	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr5:140711390G>T	ENST00000517417.1	+	1	1139	c.1139G>T	c.(1138-1140)gGc>gTc	p.G380V	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G380V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	380	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACAATGGCTACACCACA	0.418																																																	0													52	50	51					5																	140711390		2203	4300	6503	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1139G>T	5.37:g.140711390G>T	ENSP00000431083:p.Gly380Val		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G380V	ENST00000517417.1	37	c.1139	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799204	0.50208	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.01745	4.66;4.66	3.85	3.85	0.44370	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	U	0.000485	T	0.18257	0.0438	H	0.97291	3.975	0.80722	D	1	D;D	0.64830	0.992;0.994	D;D	0.70227	0.968;0.939	T	0.38394	-0.9663	10	0.87932	D	0	.	15.9401	0.79747	0.0:0.0:1.0:0.0	.	380;380	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	380	ENSP00000431083:G380V;ENSP00000367345:G380V	ENSP00000367345:G380V	G	+	2	0	PCDHGA1	140691574	1.000000	0.71417	0.869000	0.34112	0.485000	0.33311	7.750000	0.85110	2.155000	0.67459	0.650000	0.86243	GGC	PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204956		0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	-	0	26	0	G	NM_018912		140711390	1	tier1	-	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	140711390	G	T	140711390	3	4	55	1	0	0	0	0	1	0	0	0	11589	1203	42	3	1141	3	PCDHGA1	5	140711390	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		140711390	40203870	27	13703											
NOTCH4	4855	genome.wustl.edu	37	chr6	32168713	32168713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcggagtagaagcccagggtCccagggacagcgggatgccg	9	3	18	11	3	0	1	0	0	0	1	1	4	1	4	3	4	3	1	3	4	2	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:32168713C>T	ENST00000375023.3	-	23	4348	c.4210G>A	c.(4210-4212)Gac>Aac	p.D1404N		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1404					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGCCCAGGGTCCCAGGGACAG	0.642																																																	0													60	44	50					6																	32168713		1511	2709	4220	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4210G>A	6.37:g.32168713C>T	ENSP00000364163:p.Asp1404Asn		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.D1404N	ENST00000375023.3	37	c.4210	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027821	0.54790	.	.	ENSG00000204301	ENST00000375023	T	0.30182	1.54	4.74	4.74	0.60224	Notch, NODP domain (1);	0.360105	0.19955	N	0.102334	T	0.12050	0.0293	N	0.24115	0.695	0.80722	D	1	B;B	0.29936	0.019;0.262	B;B	0.38921	0.102;0.285	T	0.05321	-1.0892	10	0.10636	T	0.68	.	13.1443	0.59452	0.0:1.0:0.0:0.0	.	1404;1403	Q99466;B0S882	NOTC4_HUMAN;.	N	1404	ENSP00000364163:D1404N	ENSP00000364163:D1404N	D	-	1	0	NOTCH4	32276691	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.030000	0.41108	2.497000	0.84241	0.456000	0.33151	GAC	NOTCH4	-	pirsf_Notch,pfam_Notch_NODP_dom,prints_Notch_4	ENSG00000204301		0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0	36	0	C			32168713	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	T	T	32168713	C	T	32168713	3	4	55	1	0	0	0	0	1	0	0	0	10590	855	30	3	1833	3	NOTCH4	6	32168713	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09		32168713	138946354	28	13704											
MICAL1	64780	genome.wustl.edu	37	chr6	109766171	109766171	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagcagctgtcctaccCatagtttcttttgctgttct	5	17	8	11	0	2	0	0	0	2	0	3	0	3	0	2	0	4	7	2	0	3	7			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:109766171C>T	ENST00000358807.3	-	23	3220	c.2909G>A	c.(2908-2910)tGg>tAg	p.W970*	MICAL1_ENST00000368952.4_Nonsense_Mutation_p.W989*|MICAL1_ENST00000358577.3_Nonsense_Mutation_p.W884*	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	970					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGTCCTACCCATAGTTTCTT	0.547																																																	0													126	126	126					6																	109766171		2203	4300	6503	SO:0001587	stop_gained	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2909G>A	6.37:g.109766171C>T	ENSP00000351664:p.Trp970*		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.W989*	ENST00000358807.3	37	c.2966	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.229883	0.99108	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	.	.	.	5.85	4.97	0.65823	.	0.293054	0.33732	N	0.004606	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	12.9951	0.58642	0.0:0.8381:0.1619:0.0	.	.	.	.	X	970;989;884;494;226	.	ENSP00000335372:W226X	W	-	2	0	MICAL1	109872864	0.993000	0.37304	0.451000	0.26982	0.895000	0.52256	1.542000	0.36137	1.458000	0.47871	-0.176000	0.13171	TGG	MICAL1	-	pfam_DUF3585	ENSG00000135596		0.547	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	-	0	26	0	C	NM_022765		109766171	-1	tier1	-	no_errors	ENST00000368952	ensembl	human	known	74_37	nonsense	47.62	11	10	SNP	0.987	T	T	109766171	C	T	109766171	4	4	55	1	0	0	0	0	0	1	0	0	9607	595	21	3	306	3	MICAL1	6	109766171	Nonsense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	77597458	109766171	61348896	29	13705											
ALDH8A1	64577	genome.wustl.edu	37	chr6	135265095	135265095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggcggccttgaccgCggcttcgatctttgaggagc	4	12	13	12	4	2	2	0	2	2	0	4	4	2	3	2	4	1	1	2	4	0	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:135265095C>T	ENST00000265605.2	-	2	216	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.A50T|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.A50T|RP11-349J5.2_ENST00000416448.2_RNA	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	50					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.A50T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GCCTTGACCGCGGCTTCGATC	0.582																																																	1	Substitution - Missense(1)	prostate(1)											33	36	35					6																	135265095		2203	4300	6503	SO:0001583	missense	0			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.148G>A	6.37:g.135265095C>T	ENSP00000265605:p.Ala50Thr		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A50T	ENST00000265605.2	37	c.148	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.493115	0.96339	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	D;D;T	0.83419	-1.72;-1.72;1.02	6.08	6.08	0.98989	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	H	0.94264	3.515	0.80722	D	1	D;D;D	0.56521	0.976;0.97;0.976	P;P;P	0.54924	0.764;0.652;0.764	D	0.93047	0.6462	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	50;50;50	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	T	50	ENSP00000265605:A50T;ENSP00000356819:A50T;ENSP00000356821:A50T	ENSP00000265605:A50T	A	-	1	0	ALDH8A1	135306788	1.000000	0.71417	0.225000	0.23894	0.071000	0.16799	7.723000	0.84788	2.894000	0.99253	0.591000	0.81541	GCG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000118514		0.582	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	-	0	26	0	C			135265095	-1	tier1	rs146771623	no_errors	ENST00000265605	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T	T	135265095	C	T	135265095	3	4	55	1	0	0	0	0	1	0	0	0	505	768	27	1	1339	1	ALDH8A1	6	135265095	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	25498924	135265095	35849972	30	13706											
MYB	4602	genome.wustl.edu	37	chr6	135511293	135511293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtacagaaatacggtcCgaaacgttggtctgttattg	10	13	11	7	3	1	1	0	0	1	1	2	2	2	1	1	2	3	4	1	2	5	6			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:135511293C>T	ENST00000367814.4	+	5	521	c.335C>T	c.(334-336)cCg>cTg	p.P112L	MYB_ENST00000534121.1_Missense_Mutation_p.P112L|MYB_ENST00000341911.5_Missense_Mutation_p.P112L|MYB_ENST00000528774.1_Missense_Mutation_p.P112L|MYB_ENST00000534044.1_Missense_Mutation_p.P112L|MYB_ENST00000525369.1_Missense_Mutation_p.P112L|MYB_ENST00000533624.1_Missense_Mutation_p.P112L|MYB_ENST00000442647.2_Missense_Mutation_p.P112L|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000420123.2_Missense_Mutation_p.P88L|MYB_ENST00000527615.1_Missense_Mutation_p.P112L|MYB_ENST00000316528.8_Missense_Mutation_p.P112L	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	112	HTH myb-type 2. {ECO:0000255|PROSITE- ProRule:PRU00625}.|Interaction with HIPK2 and NLK. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AAATACGGTCCGAAACGTTGG	0.373			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													116	113	114					6																	135511293		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.335C>T	6.37:g.135511293C>T	ENSP00000356788:p.Pro112Leu		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P112L	ENST00000367814.4	37	c.335	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.121157	0.94385	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.34275	2.58;2.12;2.11;2.13;1.37;1.82;2.57;2.57;1.79;2.15	5.85	5.85	0.93711	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.047795	0.85682	D	0.000000	T	0.45736	0.1357	L	0.33753	1.03	0.80722	D	1	D;P;P;P;D;P;P;D;D	0.89917	1.0;0.793;0.754;0.847;0.999;0.92;0.754;1.0;1.0	D;B;B;B;P;P;B;D;D	0.97110	1.0;0.289;0.106;0.394;0.87;0.564;0.25;0.985;1.0	T	0.45056	-0.9287	10	0.87932	D	0	-9.7828	20.1653	0.98150	0.0:1.0:0.0:0.0	.	112;112;112;112;112;112;112;112;112	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	L	112;112;112;112;112;112;88;112;112;112;112;112;66	ENSP00000339992:P112L;ENSP00000410825:P112L;ENSP00000326328:P112L;ENSP00000356788:P112L;ENSP00000433227:P112L;ENSP00000435938:P112L;ENSP00000434723:P112L;ENSP00000432851:P112L;ENSP00000435055:P112L;ENSP00000436605:P112L	ENSP00000237302:P112L	P	+	2	0	MYB	135552986	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.768000	0.95171	0.655000	0.94253	CCG	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.373	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0	19	0	C			135511293	1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T	T	135511293	C	T	135511293	3	4	55	1	0	0	0	0	1	0	0	0	10045	652	23	1	353	1	MYB	6	135511293	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	246198	135511293	35603774	31	13707											
SYNE1	23345	genome.wustl.edu	37	chr6	152652741	152652741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggttgttgctcttctGcccactccattagctcctga	4	16	9	12	0	2	1	0	1	2	0	4	1	4	1	3	1	3	5	3	1	1	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:152652741G>T	ENST00000367255.5	-	78	13680	c.13079C>A	c.(13078-13080)gCa>gAa	p.A4360E	SYNE1_ENST00000265368.4_Missense_Mutation_p.A4360E|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4225E|SYNE1_ENST00000423061.1_Missense_Mutation_p.A4289E|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4289E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4360					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGCTCTTCTGCCCACTCCAT	0.502										HNSCC(10;0.0054)																																							0													148	143	145					6																	152652741		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13079C>A	6.37:g.152652741G>T	ENSP00000356224:p.Ala4360Glu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A4360E	ENST00000367255.5	37	c.13079	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216206	0.39201	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.84	4.98	0.66077	.	0.000000	0.64402	D	0.000014	T	0.48259	0.1490	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.76575	0.959;0.976;0.976;0.988	T	0.54503	-0.8284	10	0.66056	D	0.02	.	15.2154	0.73261	0.0671:0.0:0.9329:0.0	.	4360;4360;4360;4289	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	4360;4289;4360;4289;4225	ENSP00000356224:A4360E;ENSP00000396024:A4289E;ENSP00000265368:A4360E;ENSP00000390975:A4289E;ENSP00000341887:A4225E	ENSP00000265368:A4360E	A	-	2	0	SYNE1	152694434	1.000000	0.71417	0.923000	0.36655	0.891000	0.51852	5.838000	0.69388	1.489000	0.48450	-0.119000	0.15052	GCA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	64	0	G	NM_182961		152652741	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	9.72	65	7	SNP	0.992	T	T	152652741	G	T	152652741	3	4	55	1	0	0	0	0	1	0	0	0	15492	1319	46	3	13663	3	SYNE1	6	152652741	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	17141448	152652741	18462326	32	13708											
C6orf118	168090	genome.wustl.edu	37	chr6	165715750	165715750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattacacagggtcttcaCgcctggcgtctcgcagtgct	7	10	11	13	3	3	1	1	0	2	1	4	1	3	1	1	2	2	2	1	2	1	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr6:165715750C>T	ENST00000230301.8	-	2	81	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	C6orf118_ENST00000543069.1_De_novo_Start_InFrame	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	21										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGGGTCTTCACGCCTGGCGTC	0.517																																																	0													55	59	57					6																	165715750		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.61G>A	6.37:g.165715750C>T	ENSP00000230301:p.Val21Met		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.V21M	ENST00000230301.8	37	c.61	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	-	10.40	1.338865	0.24253	.	.	ENSG00000112539	ENST00000230301	T	0.15487	2.42	3.46	-2.24	0.06909	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	0.999999	P	0.41624	0.757	B	0.27076	0.076	T	0.41752	-0.9491	9	0.46703	T	0.11	.	4.4331	0.11538	0.0:0.3138:0.1769:0.5093	.	21	Q5T5N4	CF118_HUMAN	M	21	ENSP00000230301:V21M	ENSP00000230301:V21M	V	-	1	0	C6orf118	165635740	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.430000	0.06973	-0.511000	0.06514	-0.271000	0.10264	GTG	C6orf118	-	NULL	ENSG00000112539		0.517	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	14	0	C	NM_144980		165715750	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	T	T	165715750	C	T	165715750	3	4	55	1	0	0	0	0	1	0	0	0	2330	536	19	1	1380	1	C6orf118	6	165715750	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	13063009	165715750	5399317	33	13709											
BAZ1B	9031	genome.wustl.edu	37	chr7	72856562	72856562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcccctggactgtccaacGgcctctggctcactgtcccc	4	9	9	19	2	2	0	1	0	1	0	5	1	5	1	6	3	1	1	6	3	1	0			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:72856562G>A	ENST00000339594.4	-	19	4754	c.4416C>T	c.(4414-4416)gcC>gcT	p.A1472A	BAZ1B_ENST00000404251.1_Silent_p.A1472A	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1472					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTGTCCAACGGCCTCTGGCT	0.587																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													166	167	166					7																	72856562		2203	4300	6503	SO:0001819	synonymous_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4416C>T	7.37:g.72856562G>A			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A1472	ENST00000339594.4	37	c.4416	CCDS5549.1	7																																																																																			BAZ1B	-	NULL	ENSG00000009954		0.587	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	-	0	27	0	G	NM_032408		72856562	-1	tier1	-	no_errors	ENST00000339594	ensembl	human	known	74_37	silent	26.32	28	10	SNP	0.001	A	A	72856562	G	A	72856562	2	1	55	1	0	0	0	0	0	0	0	1	1331	1103	39	1		1	BAZ1B	7	72856562	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		72856562	86282101	34	13710											
HGF	3082	genome.wustl.edu	37	chr7	81331929	81331929	+	Frame_Shift_Del	DEL	T	T	-																															taccttatatgttaaaataaTtttgtgtatccattttgcat																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:81331929delT	ENST00000222390.5	-	18	2381	c.2155delA	c.(2155-2157)attfs	p.I720fs	HGF_ENST00000457544.2_Frame_Shift_Del_p.I715fs	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	720	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GTTAAAATAATTTTGTGTATC	0.383																																																	0													128	124	126					7																	81331929		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"hepatopoietin A", "fibroblast-derived tumor cytotoxic factor", "scatter factor", "lung fibroblast-derived mitogen"	142409	"deafness, autosomal recessive 39"	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.2155delA	7.37:g.81331929delT	ENSP00000222390:p.Ile720fs		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Frame_Shift_Del	DEL	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I719fs	ENST00000222390.5	37	c.2155	CCDS5597.1	7																																																																																			HGF	-	superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1	ENSG00000019991		0.383	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2		0	43	0	T	NM_000601		81331929	-1	tier1		no_errors	ENST00000222390	ensembl	human	known	74_37	frame_shift_del	37.74	33	20	DEL	1.000	-	-	81331929	T	-	81331929	7	5	55	1	0	1	0	1	0	0	0	0	7112	1493	52	0	35	0	HGF	7	81331929	Frame_Shift_Del	DEL	T	TCGA-L5-A4OF-01A-11D-A27G-09	8475367	81331929	77806734	35	13711											
PCOLCE	5118	genome.wustl.edu	37	chr7	100201742	100201742	+	Frame_Shift_Del	DEL	C	C	-																															ccggcctgcgcccctagtcgCccccggcaaccaggtgaccc																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr7:100201742delC	ENST00000223061.5	+	3	645	c.365delC	c.(364-366)gccfs	p.A122fs	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE-AS1_ENST00000442166.2_RNA|PCOLCE_ENST00000496269.1_3'UTR	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	122	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCTAGTCGCCCCCGGCAAC	0.682																																																	0													63	72	69					7																	100201742		2203	4300	6503	SO:0001589	frameshift_variant	0			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.365delC	7.37:g.100201742delC	ENSP00000223061:p.Ala122fs		B2R9E1|O14550	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.G124fs	ENST00000223061.5	37	c.365	CCDS5700.1	7																																																																																			PCOLCE	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000106333		0.682	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1		0	28	0	C	NM_002593		100201742	1	tier1		no_errors	ENST00000223061	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000	-	-	100201742	C	-	100201742	7	5	55	1	0	1	0	1	0	0	0	0	11633	739	26	0	375	0	PCOLCE	7	100201742	Frame_Shift_Del	DEL	C	TCGA-L5-A4OF-01A-11D-A27G-09	18869813	100201742	58936921	36	13712											
PCM1	5108	genome.wustl.edu	37	chr8	17817616	17817616	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccaagcaaaattcaaatAacactagaggaaatgccaat	21	6	5	9	0	1	1	1	0	0	1	1	2	1	2	2	1	3	1	2	1	8	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr8:17817616A>C	ENST00000519253.1	+	14	2385	c.2134A>C	c.(2134-2136)Aac>Cac	p.N712H	PCM1_ENST00000325083.8_Missense_Mutation_p.N712H|PCM1_ENST00000524226.1_Missense_Mutation_p.N713H			Q15154	PCM1_HUMAN	pericentriolar material 1	712					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAATTCAAATAACACTAGAGG	0.353			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													68	64	65					8																	17817616		1857	4089	5946	SO:0001583	missense	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2134A>C	8.37:g.17817616A>C	ENSP00000431099:p.Asn712His		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.N712H	ENST00000519253.1	37	c.2134		8	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507139	0.85282	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.30714	3.44;1.52;1.52	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	M	0.64997	1.995	0.80722	D	1	P;D;P	0.89917	0.853;1.0;0.853	P;D;P	0.91635	0.628;0.999;0.628	T	0.55451	-0.8139	10	0.62326	D	0.03	-17.2805	15.7642	0.78114	1.0:0.0:0.0:0.0	.	712;713;712	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	H	712;712;713	ENSP00000327077:N712H;ENSP00000431099:N712H;ENSP00000430521:N713H	ENSP00000327077:N712H	N	+	1	0	PCM1	17861896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.113000	0.77095	2.260000	0.74910	0.528000	0.53228	AAC	PCM1	-	NULL	ENSG00000078674		0.353	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	-	0	55	0	A	NM_006197		17817616	1	tier1	-	no_errors	ENST00000325083	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	C	C	17817616	A	C	17817616	3	2	55	1	0	0	0	0	1	0	0	0	11623	362	13	4	2180	4	PCM1	8	17817616	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09		17817616	128546406	37	13713											
KIAA1797	54914	genome.wustl.edu	37	chr9	20982419	20982419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatgacagatgatgatGccaatcggatcgcccaggtt	13	9	11	8	2	0	5	0	3	0	2	2	6	0	6	2	2	1	1	2	2	3	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:20982419G>T	ENST00000380249.1	+	41	5066	c.4702G>T	c.(4702-4704)Gcc>Tcc	p.A1568S	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1568S|FOCAD_ENST00000605086.1_Missense_Mutation_p.A1004S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1568						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGATGATGATGCCAATCGGAT	0.343																																																	0													131	136	134					9																	20982419		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4702G>T	9.37:g.20982419G>T	ENSP00000369599:p.Ala1568Ser		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.A1568S	ENST00000380249.1	37	c.4702	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373859	0.42105	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.19806	2.12;2.12	5.83	3.75	0.43078	.	0.458832	0.24407	N	0.038781	T	0.16896	0.0406	L	0.36672	1.1	0.09310	N	1	B	0.31459	0.324	B	0.36418	0.224	T	0.16660	-1.0395	10	0.66056	D	0.02	-34.3225	5.2446	0.15490	0.1394:0.0:0.6511:0.2096	.	1568	Q5VW36	K1797_HUMAN	S	1568	ENSP00000369599:A1568S;ENSP00000344307:A1568S	ENSP00000344307:A1568S	A	+	1	0	KIAA1797	20972419	0.727000	0.28069	0.037000	0.18230	0.737000	0.42083	1.954000	0.40362	1.457000	0.47850	0.561000	0.74099	GCC	FOCAD	-	pfam_DUF3028	ENSG00000188352		0.343	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1		0	39	0	G	NM_017794		20982419	1			no_errors	ENST00000338382	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.166	T	T	20982419	G	T	20982419	3	4	55	1	0	0	0	0	1	0	0	0	8285	1319	46	3	4852	3	KIAA1797	9	20982419	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		20982419	120231012	38	13714											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974717	21974718	+	Frame_Shift_Ins	INS	-	-	C																															actattcggtgcgttgggcaINSgcgcccccgcctccagcagc																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:21974717_21974718insC	ENST00000304494.5	-	1	379_380	c.109_110insG	c.(109-111)ctgfs	p.L37fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.L37fs|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.L37fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.L37fs|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	37					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.L37L(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.P38fs*7(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCGTTGGGCAGCGCCCCCGCC	0.713		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1349	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(6)|Substitution - coding silent(2)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(171)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(54)|pleura(52)|upper_aerodigestive_tract(49)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|NS(13)|biliary_tract(13)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)																																								SO:0001589	frameshift_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.109_110insG	9.37:g.21974717_21974718insC	ENSP00000307101:p.Leu37fs		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.L37fs	ENST00000304494.5	37	c.110_109	CCDS6510.1	9																																																																																			CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.713	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	20	0	0	NM_000077		21974718	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	frame_shift_ins	25.00	6	2	INS	0.000:0.000	C	C	21974718	-	C	21974717	7	5	55	1	0	1	1	0	0	0	0	0	3168	188	7	0	573	0	CDKN2A	9	21974717	Frame_Shift_Ins	INS	-	TCGA-L5-A4OF-01A-11D-A27G-09	992298	21974717	119238714	39	13715											
TMEM2	23670	genome.wustl.edu	37	chr9	74300725	74300725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtgtgaaatgtttaactGctttatttctcctcttgtgc	8	19	7	7	0	2	1	0	1	2	0	3	1	2	1	1	0	3	2	1	0	4	7			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:74300725G>T	ENST00000377044.4	-	23	4428	c.3889C>A	c.(3889-3891)Cag>Aag	p.Q1297K	TMEM2_ENST00000396272.3_Missense_Mutation_p.Q290K|TMEM2_ENST00000377066.5_Missense_Mutation_p.Q1234K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1297					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATGTTTAACTGCTTTATTTCT	0.353																																																	0													144	132	136					9																	74300725		2203	4300	6503	SO:0001583	missense	0				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3889C>A	9.37:g.74300725G>T	ENSP00000366243:p.Gln1297Lys		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.Q1297K	ENST00000377044.4	37	c.3889	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	0.325	-0.959323	0.02267	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.72051	-0.62;-0.55;2.62	5.66	3.62	0.41486	.	0.798902	0.11840	N	0.524367	T	0.51517	0.1679	L	0.29908	0.895	0.21984	N	0.999439	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.32268	-0.9913	10	0.15952	T	0.53	.	3.1084	0.06350	0.093:0.14:0.5188:0.2482	.	1297;1234	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	1297;1234;290	ENSP00000366243:Q1297K;ENSP00000366266:Q1234K;ENSP00000379569:Q290K	ENSP00000366243:Q1297K	Q	-	1	0	TMEM2	73490545	0.014000	0.17966	0.999000	0.59377	0.952000	0.60782	0.814000	0.27239	1.339000	0.45563	0.563000	0.77884	CAG	TMEM2	-	NULL	ENSG00000135048		0.353	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2	-	0	79	0	G	NM_013390		74300725	-1	tier1	-	no_errors	ENST00000377044	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.755	T	T	74300725	G	T	74300725	3	4	55	1	0	0	0	0	1	0	0	0	16168	1328	46	3	270	3	TMEM2	9	74300725	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	52326008	74300725	66912706	40	13716											
OR1J2	26740	genome.wustl.edu	37	chr9	125273718	125273718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaccctgccattcatgtGtatcctggtatcatatggct	8	15	7	11	0	2	0	2	0	0	0	3	0	3	0	3	2	2	3	3	2	4	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr9:125273718G>C	ENST00000335302.5	+	1	638	c.638G>C	c.(637-639)tGt>tCt	p.C213S		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCATTCATGTGTATCCTGGTA	0.517																																																	0													141	113	122					9																	125273718		2203	4300	6503	SO:0001583	missense	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.638G>C	9.37:g.125273718G>C	ENSP00000335575:p.Cys213Ser		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C213S	ENST00000335302.5	37	c.638	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	G	11.81	1.749415	0.30955	.	.	ENSG00000197233	ENST00000335302	T	0.36878	1.23	4.9	-1.0	0.10196	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	U	0.000558	T	0.35219	0.0924	L	0.31752	0.955	0.09310	N	1	D	0.53151	0.958	P	0.58130	0.833	T	0.25710	-1.0124	10	0.39692	T	0.17	.	9.237	0.37473	0.0:0.2187:0.2399:0.5414	.	213	Q8NGS2	OR1J2_HUMAN	S	213	ENSP00000335575:C213S	ENSP00000335575:C213S	C	+	2	0	OR1J2	124313539	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.061000	0.30542	-0.031000	0.13781	-0.196000	0.12772	TGT	OR1J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197233		0.517	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	-	0	136	0	G			125273718	1	tier1	-	no_errors	ENST00000335302	ensembl	human	known	74_37	missense	15.00	85	15	SNP	0.000	C	C	125273718	G	C	125273718	3	2	55	1	0	0	0	0	1	0	0	0	10999	1377	48	5	640	5	OR1J2	9	125273718	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	50972993	125273718	15939713	41	13717											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14950682	14950682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcttttcaaatcagagtAagtatcctttgggcaaatta	12	15	7	7	0	3	1	2	0	1	1	4	1	4	1	1	1	1	4	1	1	5	6			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:14950682A>G	ENST00000378278.2	-	14	1841	c.1804T>C	c.(1804-1806)Tac>Cac	p.Y602H	DCLRE1C_ENST00000492201.1_5'Flank|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.Y255H|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y487H|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y487H|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y487H|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y482H|DCLRE1C_ENST00000378289.4_Intron			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	602					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						AAATCAGAGTAAGTATCCTTT	0.388								Non-homologous end-joining																																									0													149	146	147					10																	14950682		2203	4300	6503	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1804T>C	10.37:g.14950682A>G	ENSP00000367527:p.Tyr602His		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.Y602H	ENST00000378278.2	37	c.1804	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.618885	0.00828	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T	0.75260	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.92;-0.37	5.46	-0.105	0.13601	.	1.686920	0.02625	N	0.103605	T	0.57373	0.2049	L	0.28274	0.84	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25641	-1.0126	10	0.15499	T	0.54	.	2.1852	0.03885	0.2474:0.3581:0.2753:0.1192	.	487;602	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	H	482;487;487;487;482;482;482;602;482;255	ENSP00000400529:Y482H;ENSP00000367492:Y487H;ENSP00000350349:Y487H;ENSP00000367496:Y487H;ENSP00000380030:Y482H;ENSP00000367503:Y482H;ENSP00000367502:Y482H;ENSP00000367527:Y602H;ENSP00000367506:Y482H	ENSP00000350349:Y487H	Y	-	1	0	DCLRE1C	14990688	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.149000	0.10204	0.027000	0.15297	-1.123000	0.02005	TAC	DCLRE1C	-	NULL	ENSG00000152457		0.388	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	59	0	A	NM_022487		14950682	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	16.67	54	11	SNP	0.000	G	G	14950682	A	G	14950682	3	3	55	1	0	0	0	0	1	0	0	0	4305	362	13	4	278	4	DCLRE1C	10	14950682	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09		14950682	120584065	42	13718											
PARD3	56288	genome.wustl.edu	37	chr10	34666952	34666952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaatggccgccccccggggGagaatgtttttcacatagat	9	10	12	10	2	1	3	1	1	0	2	1	4	1	3	4	3	0	1	4	3	3	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:34666952G>A	ENST00000374789.3	-	10	1807	c.1482C>T	c.(1480-1482)ctC>ctT	p.L494L	PARD3_ENST00000374794.3_Silent_p.L450L|PARD3_ENST00000340077.5_Silent_p.L494L|PARD3_ENST00000544292.1_Silent_p.L224L|PARD3_ENST00000545693.1_Silent_p.L494L|PARD3_ENST00000374773.1_Silent_p.L494L|PARD3_ENST00000346874.4_Silent_p.L494L|PARD3_ENST00000545260.1_Silent_p.L450L|PARD3_ENST00000374790.3_Silent_p.L450L|PARD3_ENST00000350537.4_Silent_p.L494L|PARD3_ENST00000374788.3_Silent_p.L494L|PARD3_ENST00000374776.1_Silent_p.L494L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	494	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CCCCCCGGGGGAGAATGTTTT	0.488																																																	0													97	105	103					10																	34666952		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1482C>T	10.37:g.34666952G>A			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L494	ENST00000374789.3	37	c.1482	CCDS7178.1	10																																																																																			PARD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000148498		0.488	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0	12	0	G	NM_019619		34666952	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	silent	30.30	22	10	SNP	0.632	A	A	34666952	G	A	34666952	2	1	55	1	0	0	0	0	0	0	0	1	11482	1161	41	3		3	PARD3	10	34666952	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	19716270	34666952	100867795	43	13719											
NUDT13	11319	genome.wustl.edu	37	chr10	74890583	74890583	+	IGR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactttcccattctggctGccccctaagttagccatctc	6	12	8	15	0	2	0	0	0	2	0	4	1	3	1	4	2	2	2	4	2	2	4	rs11381190|rs76518920|rs573267087	byFrequency	TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:74890583G>A	ENST00000372979.4	-	0	3069				NUDT13_ENST00000537969.1_Silent_p.L130L|NUDT13_ENST00000357321.4_Silent_p.L327L|NUDT13_ENST00000544879.1_Silent_p.L201L|NUDT13_ENST00000372997.3_3'UTR|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Silent_p.L238L	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)						cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CATTCTGGCTGCCCCCTAAGT	0.517																																																	0													73	68	69					10																	74890583		2203	4300	6503	SO:0001628	intergenic_variant	0			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905			10.37:g.74890583G>A			C9JX46|E9PAW8	Silent	SNP	pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like	p.L327	ENST00000372979.4	37	c.981	CCDS7321.1	10																																																																																			NUDT13	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000166321		0.517	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT13	HGNC	protein_coding	OTTHUMT00000048606.1	-	0	48	0	G	NM_007265		74890583	1	tier1	-	no_errors	ENST00000357321	ensembl	human	known	74_37	silent	9.86	63	7	SNP	0.984	A	A	74890583	G	A	74890583	1	1	55	0	1	0	0	0	0	0	0	0	10768	1306	46	3		3	NUDT13	10	74890583	IGR	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	40223631	74890583	60644164	44	13720											
NFKB2	4791	genome.wustl.edu	37	chr10	104157287	104157287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtacctactgcccagaggCcgagcagcgggagctggagc	9	5	15	12	2	0	1	0	0	0	1	0	4	0	3	3	3	7	3	3	3	2	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:104157287C>T	ENST00000369966.3	+	8	756	c.506C>T	c.(505-507)gCc>gTc	p.A169V	NFKB2_ENST00000189444.6_Missense_Mutation_p.A169V|NFKB2_ENST00000428099.1_Missense_Mutation_p.A169V	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	169	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	TGCCCAGAGGCCGAGCAGCGG	0.597			T	IGH@	B-NHL																																			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													111	136	128					10																	104157287		2089	4217	6306	SO:0001583	missense	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.506C>T	10.37:g.104157287C>T	ENSP00000358983:p.Ala169Val		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.A169V	ENST00000369966.3	37	c.506	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527996	0.27299	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	T;T;T	0.43688	0.94;0.94;0.94	4.95	4.95	0.65309	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.233966	0.42548	D	0.000683	T	0.39682	0.1087	L	0.56124	1.755	0.49389	D	0.999781	B;B;B	0.13145	0.007;0.004;0.001	B;B;B	0.12156	0.006;0.007;0.004	T	0.24584	-1.0156	10	0.44086	T	0.13	.	13.5547	0.61754	0.0:0.9226:0.0:0.0774	.	169;169;169	D3DR86;Q00653;A8K9D9	.;NFKB2_HUMAN;.	V	169	ENSP00000410256:A169V;ENSP00000358983:A169V;ENSP00000189444:A169V	ENSP00000189444:A169V	A	+	2	0	NFKB2	104147277	0.949000	0.32298	0.976000	0.42696	0.304000	0.27724	2.064000	0.41432	2.291000	0.77112	0.561000	0.74099	GCC	NFKB2	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000077150		0.597	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	-	0	27	0	C			104157287	1	tier1	-	no_errors	ENST00000369966	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.995	T	T	104157287	C	T	104157287	3	4	55	1	0	0	0	0	1	0	0	0	10415	739	26	3	532	3	NFKB2	10	104157287	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	29266704	104157287	31377460	45	13721											
ITPRIP	85450	genome.wustl.edu	37	chr10	106075576	106075576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgcgtgtctcgttctgCtgcctgccctcctccgccac	2	10	9	20	4	2	0	0	0	2	0	5	0	4	0	6	0	3	2	6	0	0	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr10:106075576C>A	ENST00000337478.1	-	2	405	c.234G>T	c.(232-234)caG>caT	p.Q78H	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q78H|ITPRIP_ENST00000278071.2_Missense_Mutation_p.Q78H	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	78						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCTCGTTCTGCTGCCTGCCCT	0.662																																																	0													83	77	79					10																	106075576		2203	4300	6503	SO:0001583	missense	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.234G>T	10.37:g.106075576C>A	ENSP00000337178:p.Gln78His		D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	NULL	p.Q78H	ENST00000337478.1	37	c.234	CCDS7557.1	10	.	.	.	.	.	.	.	.	.	.	C	5.430	0.264539	0.10294	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187;ENST00000458723	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.56	4.62	0.57501	.	0.582493	0.16275	N	0.221615	T	0.04861	0.0131	N	0.08118	0	0.09310	N	0.999993	B	0.06786	0.001	B	0.08055	0.003	T	0.21793	-1.0235	10	0.45353	T	0.12	-0.705	2.9593	0.05887	0.2906:0.4604:0.142:0.107	.	78	Q8IWB1	IPRI_HUMAN	H	78	ENSP00000337178:Q78H;ENSP00000278071:Q78H;ENSP00000350915:Q78H;ENSP00000414141:Q78H	ENSP00000278071:Q78H	Q	-	3	2	ITPRIP	106065566	0.144000	0.22641	0.991000	0.47740	0.369000	0.29798	0.091000	0.15046	2.611000	0.88343	0.563000	0.77884	CAG	ITPRIP	-	NULL	ENSG00000148841		0.662	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0	55	0	C	NM_033397		106075576	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	missense	9.78	83	9	SNP	0.383	A	A	106075576	C	A	106075576	3	1	55	1	0	0	0	0	1	0	0	0	7950	796	28	3	1413	3	ITPRIP	10	106075576	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	1918289	106075576	29459171	46	13722											
OLFML1	283298	genome.wustl.edu	37	chr11	7507133	7507133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccttcgaggagcttcTgcattgctggttctgttcct	3	15	12	11	1	2	0	0	0	2	0	4	2	3	1	2	3	3	5	2	3	0	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:7507133T>C	ENST00000329293.3	+	1	421	c.27T>C	c.(25-27)tcT>tcC	p.S9S	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_Silent_p.S9S|OLFML1_ENST00000530135.1_Silent_p.S9S	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	9						extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GAGGAGCTTCTGCATTGCTGG	0.562																																																	0													173	144	154					11																	7507133		2201	4296	6497	SO:0001819	synonymous_variant	0			AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.27T>C	11.37:g.7507133T>C			B4DP03|Q569G4	Silent	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.S9	ENST00000329293.3	37	c.27	CCDS7779.1	11																																																																																			OLFML1	-	NULL	ENSG00000183801		0.562	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML1	HGNC	protein_coding	OTTHUMT00000384656.1	-	0	68	0	T	NM_198474		7507133	1	tier1	-	no_errors	ENST00000329293	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.046	C	C	7507133	T	C	7507133	2	2	55	1	0	0	0	0	0	0	0	1	10895	1567	55	4		4	OLFML1	11	7507133	Silent	SNP	T	TCGA-L5-A4OF-01A-11D-A27G-09		7507133	127499383	47	13723											
SLC17A6	57084	genome.wustl.edu	37	chr11	22391642	22391642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccagtctatgcaataattGttgcaaacttctgcagaagc	12	12	8	9	0	2	1	0	0	2	1	2	1	2	1	1	0	6	4	1	0	5	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:22391642G>T	ENST00000263160.3	+	8	1386	c.949G>T	c.(949-951)Gtt>Ttt	p.V317F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	317					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCAATAATTGTTGCAAACTT	0.328																																																	0													73	72	72					11																	22391642		2202	4295	6497	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"Solute carriers"	16703	protein-coding gene	gene with protein product	"vesicular glutamate transporter 2", "differentiation-associated Na-dependent inorganic phosphate cotransporter"	607563	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.949G>T	11.37:g.22391642G>T	ENSP00000263160:p.Val317Phe		A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V317F	ENST00000263160.3	37	c.949	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002539	0.93227	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.59364	0.27	5.42	5.42	0.78866	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.055975	0.64402	D	0.000001	T	0.77471	0.4135	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78856	-0.2039	10	0.66056	D	0.02	.	19.5581	0.95361	0.0:0.0:1.0:0.0	.	317	Q9P2U8	VGLU2_HUMAN	F	317;205	ENSP00000263160:V317F	ENSP00000263160:V317F	V	+	1	0	SLC17A6	22348218	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.813000	0.99286	2.702000	0.92279	0.591000	0.81541	GTT	SLC17A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000091664		0.328	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	-	0	37	0	G	NM_020346		22391642	1	tier1	-	no_errors	ENST00000263160	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T	T	22391642	G	T	22391642	3	4	55	1	0	0	0	0	1	0	0	0	14466	1377	48	3	979	3	SLC17A6	11	22391642	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	14884509	22391642	112614874	48	13724											
PATL1	219988	genome.wustl.edu	37	chr11	59406601	59406601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaggtttgtaggtatagaGattggcttggccagggctgc	8	12	15	6	0	0	1	0	0	0	1	0	2	0	1	1	5	1	5	1	5	4	7			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:59406601G>C	ENST00000300146.9	-	18	2295	c.2211C>G	c.(2209-2211)atC>atG	p.I737M	AP000442.1_ENST00000531108.1_RNA|AP000442.1_ENST00000531311.1_RNA	NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	737	Involved in nuclear spleckles localization.|Region C.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TAGGTATAGAGATTGGCTTGG	0.483																																																	0													87	86	86					11																	59406601		1920	4125	6045	SO:0001583	missense	0			AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.2211C>G	11.37:g.59406601G>C	ENSP00000300146:p.Ile737Met		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.I737M	ENST00000300146.9	37	c.2211	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836618	0.50951	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.47528	0.84	6.06	5.14	0.70334	.	0.339581	0.35495	N	0.003164	T	0.28466	0.0704	N	0.08118	0	0.28422	N	0.917684	B	0.18166	0.026	B	0.21360	0.034	T	0.16217	-1.0410	10	0.52906	T	0.07	-1.771	11.4027	0.49878	0.0713:0.1593:0.7694:0.0	.	737	Q86TB9	PATL1_HUMAN	M	737;670	ENSP00000300146:I737M	ENSP00000300146:I737M	I	-	3	3	PATL1	59163177	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	1.198000	0.32223	2.882000	0.98803	0.655000	0.94253	ATC	PATL1	-	NULL	ENSG00000166889		0.483	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	-	0	59	0	G	NM_152716		59406601	-1	tier1	-	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	C	C	59406601	G	C	59406601	3	2	55	1	0	0	0	0	1	0	0	0	11514	932	33	5	109	5	PATL1	11	59406601	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	37014959	59406601	75599915	49	13725											
TMEM132A	54972	genome.wustl.edu	37	chr11	60694732	60694732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggcagccctggagctcCtagacgcccctgaacacttc	7	7	10	17	2	0	2	0	1	0	1	2	3	1	3	5	2	4	2	5	2	2	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:60694732C>G	ENST00000453848.2	+	2	315	c.157C>G	c.(157-159)Cta>Gta	p.L53V	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_Missense_Mutation_p.L53V			Q24JP5	T132A_HUMAN	transmembrane protein 132A	53						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGGAGCTCCTAGACGCCCC	0.612																																																	0													59	66	64					11																	60694732		2203	4299	6502	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.157C>G	11.37:g.60694732C>G	ENSP00000405823:p.Leu53Val		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.L53V	ENST00000453848.2	37	c.157	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341098	0.41498	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.06449	3.3;3.3	4.69	2.76	0.32466	.	0.479723	0.18869	N	0.128894	T	0.19046	0.0457	M	0.64404	1.975	0.32844	D	0.505761	D;D;D	0.76494	0.999;0.996;0.996	D;D;D	0.80764	0.994;0.986;0.986	T	0.12016	-1.0564	10	0.87932	D	0	.	9.9003	0.41344	0.0:0.8251:0.0:0.1749	.	42;53;53	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	V	53	ENSP00000405823:L53V;ENSP00000005286:L53V	ENSP00000005286:L53V	L	+	1	2	TMEM132A	60451308	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.637000	0.37155	1.103000	0.41568	0.462000	0.41574	CTA	TMEM132A	-	NULL	ENSG00000006118		0.612	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1		0	17	0	C	NM_017870		60694732	1			no_errors	ENST00000005286	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	G	G	60694732	C	G	60694732	3	3	55	1	0	0	0	0	1	0	0	0	16092	680	24	5	163	5	TMEM132A	11	60694732	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	1288131	60694732	74311784	50	13726											
B3GNT1	11041	genome.wustl.edu	37	chr11	66114142	66114142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgcctggcagggggtgCacaacccataatagaagggc	10	6	16	9	0	0	1	0	0	0	1	0	1	0	1	2	5	3	2	2	5	4	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:66114142C>A	ENST00000311181.4	-	1	1021	c.875G>T	c.(874-876)tGc>tTc	p.C292F	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	292					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCAGGGGGTGCACAACCCATA	0.622																																																	0													44	49	47					11																	66114142		2200	4295	6495	SO:0001583	missense	0			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.875G>T	11.37:g.66114142C>A	ENSP00000309096:p.Cys292Phe		Q4TTN0	Missense_Mutation	SNP	NULL	p.C292F	ENST00000311181.4	37	c.875	CCDS8136.1	11	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715071	0.68844	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.24350	1.86	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.38161	0.1030	L	0.39020	1.185	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03662	-1.1015	10	0.07325	T	0.83	-38.3102	17.0808	0.86598	0.0:1.0:0.0:0.0	.	292	O43505	B3GN1_HUMAN	F	292;63	ENSP00000309096:C292F	ENSP00000309096:C292F	C	-	2	0	B3GNT1	65870718	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.360000	0.79487	2.646000	0.89796	0.563000	0.77884	TGC	B3GNT1	-	NULL	ENSG00000174684		0.622	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT1	HGNC	protein_coding	OTTHUMT00000392959.1		0	23	0	C	NM_006876		66114142	-1			no_errors	ENST00000311181	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	66114142	C	A	66114142	3	1	55	1	0	0	0	0	1	0	0	0	1257	710	25	3	380	3	B3GNT1	11	66114142	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	5419410	66114142	68892374	51	13727											
ATG16L2	89849	genome.wustl.edu	37	chr11	72538335	72538335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatccggttctgggacaGcaggtgacaggcgcaggctg	9	6	17	9	2	1	2	0	1	1	1	2	4	2	3	1	5	1	4	1	5	1	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:72538335G>T	ENST00000321297.5	+	14	1607	c.1469G>T	c.(1468-1470)aGc>aTc	p.S490I	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	490					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTCTGGGACAGCAGGTGACAG	0.562																																																	0													81	72	75					11																	72538335		2200	4293	6493	SO:0001583	missense	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1469G>T	11.37:g.72538335G>T	ENSP00000326340:p.Ser490Ile		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S490I	ENST00000321297.5	37	c.1469	CCDS31634.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.842675|2.842675	0.51057|0.51057	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000540222|ENST00000321297;ENST00000538973;ENST00000541367	.|T;T;T	.|0.79940	.|-1.32;-1.32;-1.32	5.93|5.93	5.93|5.93	0.95920|0.95920	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.79776|0.79776	0.4504|0.4504	N|N	0.16567|0.16567	0.415|0.415	0.80722|0.80722	D|D	1|1	.|D;B	.|0.76494	.|0.999;0.057	.|D;B	.|0.72075	.|0.976;0.023	T|T	0.72250|0.72250	-0.4348|-0.4348	5|10	.|0.02654	.|T	.|1	.|.	17.8376|17.8376	0.88704|0.88704	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|384;490	.|Q8NAA4-2;Q8NAA4	.|.;A16L2_HUMAN	H|I	267|490;321;321	.|ENSP00000326340:S490I;ENSP00000441989:S321I;ENSP00000437412:S321I	.|ENSP00000326340:S490I	Q|S	+|+	3|2	2|0	ATG16L2|ATG16L2	72215983|72215983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	2.579000|2.579000	0.46059|0.46059	2.815000|2.815000	0.96918|0.96918	0.561000|0.561000	0.74099|0.74099	CAG|AGC	ATG16L2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000168010		0.562	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	-	0	41	0	G	NM_033388		72538335	1	tier1	-	no_errors	ENST00000321297	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	72538335	G	T	72538335	3	4	55	1	0	0	0	0	1	0	0	0	1093	971	34	3	1523	3	ATG16L2	11	72538335	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	6424193	72538335	62468181	52	13728											
ODZ4	26011	genome.wustl.edu	37	chr11	78387198	78387198	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaggcctcgctcaccCgcagccggcgcccaaagaca	9	3	10	19	4	1	2	1	0	0	2	3	2	2	2	5	2	1	2	5	2	1	0			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:78387198C>T	ENST00000278550.7	-	30	5957	c.5495G>A	c.(5494-5496)cGg>cAg	p.R1832Q		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1832					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CTCGCTCACCCGCAGCCGGCG	0.637																																																	0													6	8	8					11																	78387198		1921	4027	5948	SO:0001630	splice_region_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5496+1G>A	11.37:g.78387198C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1832Q	ENST00000278550.7	37	c.5495	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.701290	0.96812	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90444	-2.67;0.7	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.95185	0.8439	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.95183	0.8301	9	.	.	.	.	17.6814	0.88245	0.0:1.0:0.0:0.0	.	1832	Q6N022	TEN4_HUMAN	Q	1832;296	ENSP00000278550:R1832Q;ENSP00000431711:R296Q	.	R	-	2	0	ODZ4	78064846	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.630000	0.83225	2.468000	0.83385	0.650000	0.86243	CGG	TENM4	-	NULL	ENSG00000149256		0.637	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	43	0	C		Missense_Mutation	78387198	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	32.73	37	18	SNP	1.000	T	T	78387198	C	T	78387198	5	4	55	1	0	0	0	0	0	0	1	0	10876	666	23	1	2834	1	ODZ4	11	78387198	Splice_Site	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	5848863	78387198	56619318	53	13729											
CUL5	8065	genome.wustl.edu	37	chr11	107966314	107966314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtaaccacgtttcagctcGctgtattgtttgcatggaac	9	13	10	9	2	1	0	1	0	0	0	2	1	1	1	1	2	4	7	1	2	3	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:107966314G>A	ENST00000393094.2	+	16	2417	c.1801G>A	c.(1801-1803)Gct>Act	p.A601T		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	601					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GTTTCAGCTCGCTGTATTGTT	0.353																																																	0													96	97	97					11																	107966314		2201	4298	6499	SO:0001583	missense	0			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1801G>A	11.37:g.107966314G>A	ENSP00000376808:p.Ala601Thr		A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.A601T	ENST00000393094.2	37	c.1801	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408398	0.83340	.	.	ENSG00000166266	ENST00000393094	T	0.74947	-0.89	5.42	5.42	0.78866	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	M	0.86178	2.8	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	D	0.86621	0.1879	10	0.44086	T	0.13	-11.4654	19.5901	0.95506	0.0:0.0:1.0:0.0	.	601	Q93034	CUL5_HUMAN	T	601	ENSP00000376808:A601T	ENSP00000376808:A601T	A	+	1	0	CUL5	107471524	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	9.374000	0.97172	2.709000	0.92574	0.655000	0.94253	GCT	CUL5	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology	ENSG00000166266		0.353	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	-	0	52	0	G			107966314	1	tier1	-	no_errors	ENST00000393094	ensembl	human	known	74_37	missense	11.76	44	6	SNP	1.000	A	A	107966314	G	A	107966314	3	1	55	1	0	0	0	0	1	0	0	0	4068	1087	38	1	1863	1	CUL5	11	107966314	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	29579116	107966314	27040202	54	13730											
ATM	472	genome.wustl.edu	37	chr11	108168036	108168036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccgcaagatgggattatGgtgaaactagttgtcaattt	13	13	10	5	1	1	2	1	1	0	1	2	3	2	3	1	2	1	2	1	2	6	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:108168036G>T	ENST00000452508.2	+	34	5121	c.4932G>T	c.(4930-4932)atG>atT	p.M1644I	ATM_ENST00000278616.4_Missense_Mutation_p.M1644I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1644					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGGGATTATGGTGAAACTAG	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													93	89	90					11																	108168036		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4932G>T	11.37:g.108168036G>T	ENSP00000388058:p.Met1644Ile		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M1644I	ENST00000452508.2	37	c.4932	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582922	0.28268	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70516	-0.49;-0.49	4.97	4.06	0.47325	Armadillo-type fold (1);	0.235233	0.51477	D	0.000097	T	0.52869	0.1761	L	0.27053	0.805	0.24589	N	0.993836	B	0.02656	0.0	B	0.04013	0.001	T	0.33675	-0.9859	10	0.20519	T	0.43	.	8.5333	0.33349	0.2431:0.0:0.7569:0.0	.	1644	Q13315	ATM_HUMAN	I	1644	ENSP00000278616:M1644I;ENSP00000388058:M1644I	ENSP00000278616:M1644I	M	+	3	0	ATM	107673246	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	2.419000	0.44671	1.224000	0.43551	0.655000	0.94253	ATG	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0	22	0	G	NM_000051		108168036	1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	108168036	G	T	108168036	3	4	55	1	0	0	0	0	1	0	0	0	1110	1348	47	3	5058	3	ATM	11	108168036	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	201722	108168036	26838480	55	13731											
SCN3B	55800	genome.wustl.edu	37	chr11	123524453	123524453	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcgaggtgctggtacttAccccagtagataagcacgag	11	8	13	9	2	0	1	0	0	0	1	0	3	0	1	2	3	4	4	2	3	4	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr11:123524453A>G	ENST00000392770.2	-	1	858		c.e1+1		SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTGGTACTTACCCCAGTAGA	0.502																																																	0													205	206	205					11																	123524453		2202	4299	6501	SO:0001630	splice_region_variant	0			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.55+1T>C	11.37:g.123524453A>G			A5H1I5|Q17RL3|Q9ULR2	Splice_Site	SNP	-	e1+2	ENST00000392770.2	37	c.55+2	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430373	0.62844	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	.	.	.	4.97	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.93	0.35663	0.812:0.188:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN3B	123029663	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.185000	0.58330	0.802000	0.34089	0.482000	0.46254	.	SCN3B	-	-	ENSG00000166257		0.502	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	-	0	36	0	A	NM_018400	Intron	123524453	-1	tier1	-	no_errors	ENST00000299333	ensembl	human	known	74_37	splice_site	8.16	45	4	SNP	1.000	G	G	123524453	A	G	123524453	5	3	55	1	0	0	0	0	0	0	1	0	13964	405	14	4	610	4	SCN3B	11	123524453	Splice_Site	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09	15356417	123524453	11482063	56	13732											
WNK1	65125	genome.wustl.edu	37	chr12	994904	994904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattctgatacacaacccaAagctcctggaattgatgaca	15	9	7	10	0	1	4	0	3	1	1	2	5	2	5	2	1	3	1	2	1	4	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:994904A>G	ENST00000315939.6	+	19	5577	c.4934A>G	c.(4933-4935)aAa>aGa	p.K1645R	WNK1_ENST00000537687.1_Missense_Mutation_p.K1905R|WNK1_ENST00000530271.2_Missense_Mutation_p.K2143R|WNK1_ENST00000340908.4_Missense_Mutation_p.K1238R|WNK1_ENST00000535572.1_Missense_Mutation_p.K1398R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1645					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACACAACCCAAAGCTCCTGGA	0.473																																					Colon(19;451 567 6672 12618 28860)												0													78	77	78					12																	994904		2203	4300	6503	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4934A>G	12.37:g.994904A>G	ENSP00000313059:p.Lys1645Arg		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K2143R	ENST00000315939.6	37	c.6428	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691579	0.68271	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.72282	-0.64;-0.59;-0.59;-0.63;0.49	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.77791	0.4183	L	0.34521	1.04	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.997;0.994	T	0.78006	-0.2373	10	0.46703	T	0.11	-8.1727	16.5764	0.84681	1.0:0.0:0.0:0.0	.	1398;1398;1645	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	R	1398;1645;1905;818;2143;1238	ENSP00000441972:K1398R;ENSP00000313059:K1645R;ENSP00000444465:K1905R;ENSP00000433548:K2143R;ENSP00000341292:K1238R	ENSP00000252477:K818R	K	+	2	0	WNK1	865165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.742000	0.74843	2.371000	0.80710	0.533000	0.62120	AAA	WNK1	-	NULL	ENSG00000060237		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0	38	0	A	NM_018979		994904	1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	G	G	994904	A	G	994904	3	3	55	1	0	0	0	0	1	0	0	0	17426	14	1	4	6510	4	WNK1	12	994904	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09		994904	132856991	57	13733											
FAR2	55711	genome.wustl.edu	37	chr12	29450109	29450110	+	Frame_Shift_Ins	INS	-	-	A																															tatccgtgccctgtggagccINSaaaaaaaatcattgattccc																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:29450109_29450110insA	ENST00000536681.3	+	4	767_768	c.521_522insA	c.(520-525)ccaaaafs	p.PK174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Frame_Shift_Ins_p.PK174fs|FAR2_ENST00000547116.1_Frame_Shift_Ins_p.PK77fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CCTGTGGAGCCAAAAAAAATCA	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.529dupA	12.37:g.29450117_29450117dupA	ENSP00000443291:p.Pro174fs		F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Ins	INS	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.I177fs	ENST00000536681.3	37	c.521_522	CCDS8717.1	12																																																																																			FAR2	-	pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase	ENSG00000064763		0.391	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2		0	12	0	-	NM_018099		29450110	1	tier1		no_errors	ENST00000182377	ensembl	human	known	74_37	frame_shift_ins	9.09	20	2	INS	1.000:0.992	A	A	29450110	-	A	29450109	7	5	55	1	0	1	1	0	0	0	0	0	5697	594	21	0	531	0	FAR2	12	29450109	Frame_Shift_Ins	INS	-	TCGA-L5-A4OF-01A-11D-A27G-09	28455205	29450109	104401786	58	13734											
ALG10	84920	genome.wustl.edu	37	chr12	34179462	34179462	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattcacttatgctcataAatacttgctagcagacaata	16	12	5	8	0	2	1	2	0	0	1	2	2	2	1	0	0	4	3	0	0	8	7			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:34179462A>T	ENST00000266483.2	+	3	1353	c.1034A>T	c.(1033-1035)aAa>aTa	p.K345I	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	345					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TATGCTCATAAATACTTGCTA	0.299																																																	0													75	84	81					12																	34179462		2200	4293	6493	SO:0001583	missense	0			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"derepression of ITR1 expression 2 homolog (S. cerevisiae)", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"	603313	"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)", "asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1034A>T	12.37:g.34179462A>T	ENSP00000266483:p.Lys345Ile		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	pfam_Alg10,pirsf_Alg10	p.K345I	ENST00000266483.2	37	c.1034	CCDS41769.1	12	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535550	0.45176	.	.	ENSG00000139133	ENST00000266483	T	0.55930	0.49	3.37	3.37	0.38596	.	0.136475	0.64402	D	0.000005	T	0.52273	0.1724	M	0.72118	2.19	0.80722	D	1	P	0.37612	0.602	B	0.39617	0.305	T	0.58989	-0.7538	10	0.87932	D	0	.	10.0836	0.42404	1.0:0.0:0.0:0.0	.	345	Q5BKT4	AG10A_HUMAN	I	345	ENSP00000266483:K345I	ENSP00000266483:K345I	K	+	2	0	ALG10	34070729	1.000000	0.71417	0.504000	0.27639	0.852000	0.48524	4.803000	0.62546	1.322000	0.45245	0.155000	0.16302	AAA	ALG10	-	pfam_Alg10,pirsf_Alg10	ENSG00000139133		0.299	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10	HGNC	protein_coding	OTTHUMT00000403309.1	-	0	93	0	A	NM_032834		34179462	1	tier1	-	no_errors	ENST00000266483	ensembl	human	known	74_37	missense	34.21	75	39	SNP	0.989	T	T	34179462	A	T	34179462	3	4	55	1	0	0	0	0	1	0	0	0	511	14	1	5	1044	5	ALG10	12	34179462	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09	4729353	34179462	99672433	59	13735											
NELL2	4753	genome.wustl.edu	37	chr12	45168614	45168614	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggcagattagagtttCacactggatggttccattct	9	15	10	7	0	2	2	1	0	1	2	3	3	3	3	1	3	0	3	1	3	1	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:45168614C>A	ENST00000429094.2	-	9	1414	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	NELL2_ENST00000395487.2_Nonsense_Mutation_p.E303*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.E304*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.E327*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.E303*|NELL2_ENST00000437801.2_Nonsense_Mutation_p.E354*|NELL2_ENST00000551601.1_Nonsense_Mutation_p.E303*	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	304	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATTAGAGTTTCACACTGGATG	0.353											OREG0021741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													133	125	128					12																	45168614		2203	4300	6503	SO:0001587	stop_gained	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.910G>T	12.37:g.45168614C>A	ENSP00000390680:p.Glu304*	929	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.E354*	ENST00000429094.2	37	c.1060	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.649881	0.96714	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-20.0506	18.7882	0.91963	0.0:1.0:0.0:0.0	.	.	.	.	X	303;304;303;304;303;327;354;303;77;304	.	ENSP00000327988:E327X	E	-	1	0	NELL2	43454881	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	6.999000	0.76283	2.518000	0.84900	0.650000	0.86243	GAA	NELL2	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000184613		0.353	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	38	0	C	NM_006159		45168614	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	nonsense	16.67	45	9	SNP	1.000	A	A	45168614	C	A	45168614	4	1	55	1	0	0	0	0	0	1	0	0	10373	835	29	3	1588	3	NELL2	12	45168614	Nonsense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	10989152	45168614	88683281	60	13736											
TIMELESS	8914	genome.wustl.edu	37	chr12	56827182	56827183	+	Frame_Shift_Del	DEL	AC	AC	-																															caccagctgcagcagctcatAcaaggtttcactgaggactc																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:56827182_56827183delAC	ENST00000553532.1	-	5	561_562	c.411_412delGT	c.(409-414)ttgtatfs	p.Y138fs	TIMELESS_ENST00000554616.1_Frame_Shift_Del_p.Y138fs|TIMELESS_ENST00000229201.4_Frame_Shift_Del_p.Y138fs					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGCAGCTCATACAAGGTTTCAC	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.411_412delGT	12.37:g.56827182_56827183delAC	ENSP00000450607:p.Tyr138fs			Frame_Shift_Del	DEL	pfam_TIMELESS_C,pfam_Timeless	p.Y138fs	ENST00000553532.1	37	c.412_411	CCDS8918.1	12																																																																																			TIMELESS	-	pfam_Timeless	ENSG00000111602		0.505	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1		0	35	0	AC	NM_003920		56827183	-1	tier1		no_errors	ENST00000553532	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000:0.990	-	-	56827183	AC	-	56827182	7	5	55	1	0	1	0	1	0	0	0	0	15951	391	14	0	3314	0	TIMELESS	12	56827182	Frame_Shift_Del	DEL	AC	TCGA-L5-A4OF-01A-11D-A27G-09	11658568	56827182	77024713	61	13737											
ACACB	32	genome.wustl.edu	37	chr12	109604754	109604754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttaccgtggcttctcccGctgagtttgtcacacgcttt	5	15	8	13	3	2	1	1	1	1	0	3	1	2	1	2	1	1	4	2	1	1	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:109604754G>A	ENST00000338432.7	+	3	861	c.742G>A	c.(742-744)Gct>Act	p.A248T	ACACB_ENST00000377854.5_Missense_Mutation_p.A248T|ACACB_ENST00000377848.3_Missense_Mutation_p.A248T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	248					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCTTCTCCCGCTGAGTTTGT	0.607																																																	0													83	76	79					12																	109604754		2203	4300	6503	SO:0001583	missense	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.742G>A	12.37:g.109604754G>A	ENSP00000341044:p.Ala248Thr		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.A248T	ENST00000338432.7	37	c.742	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	15.70	2.909921	0.52439	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.16897	2.31;2.31;2.31	5.41	5.41	0.78517	PreATP-grasp-like fold (1);	0.156492	0.56097	D	0.000026	T	0.13756	0.0333	L	0.37697	1.125	0.80722	D	1	P	0.39282	0.666	B	0.35182	0.197	T	0.08513	-1.0718	10	0.22109	T	0.4	.	14.4319	0.67257	0.0:0.1475:0.8525:0.0	.	248	O00763	ACACB_HUMAN	T	248	ENSP00000341044:A248T;ENSP00000367079:A248T;ENSP00000367085:A248T	ENSP00000341044:A248T	A	+	1	0	ACACB	108089137	1.000000	0.71417	0.671000	0.29857	0.634000	0.38068	7.786000	0.85741	2.526000	0.85167	0.491000	0.48974	GCT	ACACB	-	superfamily_PreATP-grasp_dom	ENSG00000076555		0.607	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	37	0	G	NM_001093		109604754	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.992	A	A	109604754	G	A	109604754	3	1	55	1	0	0	0	0	1	0	0	0	107	1087	38	1	748	1	ACACB	12	109604754	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	52777572	109604754	24247141	62	13738											
DNAH10	196385	genome.wustl.edu	37	chr12	124419182	124419182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctaggatgctttgtctcaGgactgtacctggaaggtgct	7	12	12	10	0	1	0	1	0	1	0	2	3	1	3	2	4	3	3	2	4	3	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr12:124419182G>A	ENST00000409039.3	+	77	13163	c.13138G>A	c.(13138-13140)Gga>Aga	p.G4380R	CCDC92_ENST00000544798.1_Intron|RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4380					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTTGTCTCAGGACTGTACCT	0.522																																																	0													72	76	75					12																	124419182		2085	4224	6309	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.13138G>A	12.37:g.124419182G>A	ENSP00000386770:p.Gly4380Arg		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.G4380R	ENST00000409039.3	37	c.13138	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358419	0.82243	.	.	ENSG00000197653	ENST00000409039	T	0.51071	0.72	4.97	4.97	0.65823	Dynein heavy chain (1);	0.129412	0.51477	D	0.000084	D	0.83133	0.5188	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91092	0.4907	10	0.87932	D	0	.	18.1808	0.89777	0.0:0.0:1.0:0.0	.	4380	Q8IVF4	DYH10_HUMAN	R	4380	ENSP00000386770:G4380R	ENSP00000386770:G4380R	G	+	1	0	DNAH10	122985135	1.000000	0.71417	0.960000	0.40013	0.630000	0.37929	9.781000	0.99029	2.448000	0.82819	0.561000	0.74099	GGA	DNAH10	-	pfam_Dynein_heavy_dom	ENSG00000197653		0.522	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0	40	0	G			124419182	1			no_errors	ENST00000409039	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	A	A	124419182	G	A	124419182	3	1	55	1	0	0	0	0	1	0	0	0	4612	1001	35	3	13444	3	DNAH10	12	124419182	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	14814428	124419182	9432713	63	13739											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454447	84454447	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccaacagaatgaggttcTtgtaatccacaaagtgcgat	14	10	9	8	1	1	2	0	1	1	1	3	4	3	2	2	1	2	2	2	1	4	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr13:84454447T>G	ENST00000377084.2	-	1	2081	c.1196A>C	c.(1195-1197)aAg>aCg	p.K399T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	399					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AATGAGGTTCTTGTAATCCAC	0.448																																																	0													213	208	210					13																	84454447		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1196A>C	13.37:g.84454447T>G	ENSP00000366288:p.Lys399Thr		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K399T	ENST00000377084.2	37	c.1196	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	0.986	-0.695494	0.03279	.	.	ENSG00000178235	ENST00000377084	T	0.50813	0.73	5.23	4.1	0.47936	.	0.436137	0.24592	N	0.037220	T	0.16171	0.0389	N	0.02202	-0.64	0.30338	N	0.785997	B	0.02656	0.0	B	0.01281	0.0	T	0.12268	-1.0554	10	0.13470	T	0.59	-14.2948	1.9179	0.03301	0.2652:0.1748:0.0:0.56	.	399	Q96PX8	SLIK1_HUMAN	T	399	ENSP00000366288:K399T	ENSP00000366288:K399T	K	-	2	0	SLITRK1	83352448	0.985000	0.35326	1.000000	0.80357	0.998000	0.95712	1.289000	0.33307	1.985000	0.57927	0.459000	0.35465	AAG	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.448	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0	15	0	T	NM_052910		84454447	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	61.90	8	13	SNP	1.000	G	G	84454447	T	G	84454447	3	3	55	1	0	0	0	0	1	0	0	0	14787	1609	56	4	898	4	SLITRK1	13	84454447	Missense_Mutation	SNP	T	TCGA-L5-A4OF-01A-11D-A27G-09		84454447	30715431	64	13740											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454489	84454489	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcggatgctgtggatcttgTtatctcgtaggaaaagctcc	8	14	11	8	2	2	0	0	0	2	0	5	3	3	3	1	3	2	4	1	3	4	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr13:84454489T>G	ENST00000377084.2	-	1	2039	c.1154A>C	c.(1153-1155)aAc>aCc	p.N385T		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	385					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGGATCTTGTTATCTCGTAG	0.458																																																	0													138	133	135					13																	84454489		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1154A>C	13.37:g.84454489T>G	ENSP00000366288:p.Asn385Thr		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N385T	ENST00000377084.2	37	c.1154	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	16.80	3.221830	0.58560	.	.	ENSG00000178235	ENST00000377084	T	0.69175	-0.38	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	L	0.54323	1.7	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.80377	-0.1408	10	0.87932	D	0	-14.4125	14.206	0.65734	0.0:0.0:0.0:1.0	.	385	Q96PX8	SLIK1_HUMAN	T	385	ENSP00000366288:N385T	ENSP00000366288:N385T	N	-	2	0	SLITRK1	83352490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.042000	0.60477	0.454000	0.30748	AAC	SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000178235		0.458	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0	12	0	T	NM_052910		84454489	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	50.00	6	6	SNP	1.000	G	G	84454489	T	G	84454489	3	3	55	1	0	0	0	0	1	0	0	0	14787	1725	60	4	940	4	SLITRK1	13	84454489	Missense_Mutation	SNP	T	TCGA-L5-A4OF-01A-11D-A27G-09	42	84454489	30715389	65	13741											
OR4L1	122742	genome.wustl.edu	37	chr14	20528886	20528886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggtcagtgtaccaaaaaAatcatcacatgggctctcca	13	9	7	12	0	4	0	3	0	1	0	5	0	4	0	3	2	1	2	3	2	4	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:20528886A>T	ENST00000315683.1	+	1	683	c.683A>T	c.(682-684)aAa>aTa	p.K228I		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTACCAAAAAAATCATCACAT	0.443																																																	0													192	178	183					14																	20528886		2203	4300	6503	SO:0001583	missense	0				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.683A>T	14.37:g.20528886A>T	ENSP00000319217:p.Lys228Ile		Q6IEZ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.K228I	ENST00000315683.1	37	c.683	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251788	0.22880	.	.	ENSG00000176246	ENST00000315683	T	0.00015	9.17	4.13	-5.65	0.02459	GPCR, rhodopsin-like superfamily (1);	1.484720	0.04115	N	0.315297	T	0.00144	0.0004	L	0.61387	1.9	0.09310	N	1	P	0.40660	0.726	P	0.46389	0.515	T	0.14615	-1.0466	10	0.87932	D	0	.	6.0592	0.19828	0.609:0.0:0.205:0.186	.	228	Q8NH43	OR4L1_HUMAN	I	228	ENSP00000319217:K228I	ENSP00000319217:K228I	K	+	2	0	OR4L1	19598726	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.276000	0.01161	-0.869000	0.04052	0.528000	0.53228	AAA	OR4L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176246		0.443	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	-	0	93	0	A			20528886	1	tier1	-	no_errors	ENST00000315683	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.000	T	T	20528886	A	T	20528886	3	4	55	1	0	0	0	0	1	0	0	0	11113	14	1	5	685	5	OR4L1	14	20528886	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09		20528886	86820654	66	13742											
DHRS4	10901	genome.wustl.edu	37	chr14	24435043	24435043	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaatggagaaacgagggTacagagagtgagagagagcc	17	3	16	5	1	0	5	0	1	0	5	0	10	0	5	1	2	3	1	1	2	3	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:24435043T>C	ENST00000313250.5	+	4	682		c.e4+2		DHRS4_ENST00000421831.1_Splice_Site|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000397073.2_Splice_Site|DHRS4_ENST00000558581.1_Splice_Site|DHRS4_ENST00000559632.1_Splice_Site|DHRS4_ENST00000382761.3_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4						alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GAAACGAGGGTACAGAGAGTG	0.542																																																	0													121	110	114					14																	24435043		2191	4295	6486	SO:0001630	splice_region_variant	0			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16985	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 25C, member 2"	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.479+2T>C	14.37:g.24435043T>C			B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	-	e4+2	ENST00000313250.5	37	c.479+2	CCDS9605.1	14	.	.	.	.	.	.	.	.	.	.	t	16.89	3.247457	0.59103	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4395	0.38659	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHRS4	23504883	1.000000	0.71417	0.982000	0.44146	0.978000	0.69477	5.995000	0.70631	1.379000	0.46325	0.473000	0.43528	.	DHRS4	-	-	ENSG00000157326		0.542	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4	HGNC	protein_coding	OTTHUMT00000071857.3	-	0	90	0	T		Intron	24435043	1	tier1	-	no_errors	ENST00000313250	ensembl	human	known	74_37	splice_site	29.87	54	23	SNP	1.000	C	C	24435043	T	C	24435043	5	2	55	1	0	0	0	0	0	0	1	0	4506	1652	57	4	495	4	DHRS4	14	24435043	Splice_Site	SNP	T	TCGA-L5-A4OF-01A-11D-A27G-09	3906157	24435043	82914497	67	13743											
ARHGAP5	394	genome.wustl.edu	37	chr14	32559966	32559966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagacaaaggtaactgtGgagttggaaagtcttgtttg	15	11	12	3	0	1	1	0	0	1	1	1	3	1	3	0	3	1	3	0	3	5	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:32559966G>A	ENST00000345122.3	+	2	406	c.91G>A	c.(91-93)Gga>Aga	p.G31R	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G31R|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G31R|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G31R	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	31					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGGTAACTGTGGAGTTGGAAA	0.418																																					NSCLC(9;77 350 3443 29227 41353)												0													115	108	110					14																	32559966		2203	4299	6502	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.91G>A	14.37:g.32559966G>A	ENSP00000371897:p.Gly31Arg		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.G31R	ENST00000345122.3	37	c.91	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.181402	0.94885	.	.	ENSG00000100852	ENST00000555814;ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	D;D;D;D;D;T	0.84589	-1.87;-1.72;-1.72;-1.72;-1.72;0.56	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.93003	0.7773	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93493	0.6837	10	0.87932	D	0	.	19.5028	0.95103	0.0:0.0:1.0:0.0	.	31;31	Q13017-2;Q13017	.;RHG05_HUMAN	R	31	ENSP00000452372:G31R;ENSP00000452222:G31R;ENSP00000441692:G31R;ENSP00000371897:G31R;ENSP00000393307:G31R;ENSP00000451579:G31R	ENSP00000371897:G31R	G	+	1	0	ARHGAP5	31629717	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	GGA	ARHGAP5	-	superfamily_P-loop_NTPase,prints_Small_GTPase	ENSG00000100852		0.418	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	55	0	G	NM_001030055		32559966	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	35.21	46	25	SNP	1.000	A	A	32559966	G	A	32559966	3	1	55	1	0	0	0	0	1	0	0	0	886	1349	47	3	93	3	ARHGAP5	14	32559966	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	8124923	32559966	74789574	68	13744											
VSX2	338917	genome.wustl.edu	37	chr14	74726375	74726375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggagcagtgtcatggCggagtatgggctctacgggg	6	7	20	8	3	2	0	1	0	1	0	2	2	2	2	1	7	2	3	1	7	2	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:74726375C>T	ENST00000261980.2	+	4	740	c.650C>T	c.(649-651)gCg>gTg	p.A217V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	217	CVC. {ECO:0000255|PROSITE- ProRule:PRU00829}.				cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		AGTGTCATGGCGGAGTATGGG	0.627																																																	0													135	111	119					14																	74726375		2203	4300	6503	SO:0001583	missense	0			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.650C>T	14.37:g.74726375C>T	ENSP00000261980:p.Ala217Val		A1A4X6	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.A217V	ENST00000261980.2	37	c.650	CCDS9827.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.450754	0.96205	.	.	ENSG00000119614	ENST00000261980	D	0.92647	-3.08	5.28	5.28	0.74379	CVC domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95667	0.8591	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95600	0.8662	10	0.66056	D	0.02	.	19.1174	0.93346	0.0:1.0:0.0:0.0	.	217	P58304	VSX2_HUMAN	V	217	ENSP00000261980:A217V	ENSP00000261980:A217V	A	+	2	0	VSX2	73796128	1.000000	0.71417	0.968000	0.41197	0.851000	0.48451	7.590000	0.82653	2.746000	0.94184	0.655000	0.94253	GCG	VSX2	-	superfamily_Homeodomain-like	ENSG00000119614		0.627	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX2	HGNC	protein_coding	OTTHUMT00000412323.1	-	0	75	0	C	NM_182894		74726375	1	tier1	-	no_errors	ENST00000261980	ensembl	human	known	74_37	missense	23.19	53	16	SNP	1.000	T	T	74726375	C	T	74726375	3	4	55	1	0	0	0	0	1	0	0	0	17281	768	27	1	664	1	VSX2	14	74726375	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	42166409	74726375	32623165	69	13745											
EML5	161436	genome.wustl.edu	37	chr14	89082165	89082165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatctcagcatctctcaGtgaggtgtatgtacacattt	10	14	8	9	0	4	1	3	1	2	0	6	1	4	1	0	1	2	3	0	1	2	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:89082165G>T	ENST00000380664.5	-	42	5906	c.5907C>A	c.(5905-5907)caC>caA	p.H1969Q	EML5_ENST00000352093.5_Missense_Mutation_p.H1931Q|EML5_ENST00000554922.1_Missense_Mutation_p.H1977Q			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1969						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCATCTCTCAGTGAGGTGTAT	0.363																																																	0													106	93	97					14																	89082165		1854	4098	5952	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5907C>A	14.37:g.89082165G>T	ENSP00000370039:p.His1969Gln		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1977Q	ENST00000380664.5	37	c.5931	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303038	0.60195	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.50277	1.04;0.75;1.07	5.92	2.08	0.27032	.	0.000000	0.52532	D	0.000078	T	0.50854	0.1640	N	0.25647	0.755	0.39741	D	0.971744	P	0.50156	0.932	D	0.63703	0.917	T	0.50750	-0.8791	10	0.59425	D	0.04	.	11.4099	0.49919	0.3003:0.0:0.6997:0.0	.	1969	Q05BV3	EMAL5_HUMAN	Q	1977;1931;1969	ENSP00000451998:H1977Q;ENSP00000298315:H1931Q;ENSP00000370039:H1969Q	ENSP00000298315:H1931Q	H	-	3	2	EML5	88151918	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	1.736000	0.38187	0.126000	0.18424	0.650000	0.86243	CAC	EML5	-	NULL	ENSG00000165521		0.363	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	-	0	52	0	G			89082165	-1	tier1	-	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	T	T	89082165	G	T	89082165	3	4	55	1	0	0	0	0	1	0	0	0	5116	1020	36	3	6	3	EML5	14	89082165	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	14355790	89082165	18267375	70	13746											
KIF26A	26153	genome.wustl.edu	37	chr14	104642925	104642925	+	Frame_Shift_Del	DEL	C	C	-																															ccccagccccacacttggctCcccccggctgcctgaggccc																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr14:104642925delC	ENST00000423312.2	+	12	3800	c.3800delC	c.(3799-3801)tccfs	p.S1267fs	KIF26A_ENST00000315264.7_Frame_Shift_Del_p.S1128fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1267					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACACTTGGCTCCCCCCGGCTG	0.697																																																	0													21	27	25					14																	104642925		1952	4101	6053	SO:0001589	frameshift_variant	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3800delC	14.37:g.104642925delC	ENSP00000388241:p.Ser1267fs		Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R1269fs	ENST00000423312.2	37	c.3800	CCDS45171.1	14																																																																																			KIF26A	-	NULL	ENSG00000066735		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1		0	9	0	C			104642925	1			no_errors	ENST00000423312	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.000	0	-	104642925	C	-	104642925	7	5	55	1	0	1	0	1	0	0	0	0	8321	855	30	0	3846	0	KIF26A	14	104642925	Frame_Shift_Del	DEL	C	TCGA-L5-A4OF-01A-11D-A27G-09	15560760	104642925	2706615	71	13747											
SCG5	6447	genome.wustl.edu	37	chr15	32983947	32983947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgagaagatgaagggaggaGagagacgaaagcggagggta	17	2	19	3	3	0	5	0	1	0	4	0	11	0	7	0	4	1	1	0	4	4	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:32983947G>A	ENST00000300175.4	+	5	636	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SCG5_ENST00000494364.1_Intron|SCG5_ENST00000497208.1_Intron|SCG5_ENST00000413748.2_Missense_Mutation_p.E175K|SCG5_ENST00000498069.1_3'UTR	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	176					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		GAAGGGAGGAGAGAGACGAAA	0.468																																																	0													112	122	119					15																	32983947		1968	4146	6114	SO:0001583	missense	0			Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"prohormone convertase chaperone"	173120	"secretory granule, neuroendocrine protein 1 (7B2 protein)"	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.526G>A	15.37:g.32983947G>A	ENSP00000300175:p.Glu176Lys		P01164|Q6FHD0|Q9BS38	Missense_Mutation	SNP	pfam_Secretogranin_V	p.E176K	ENST00000300175.4	37	c.526	CCDS45207.1	15	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689391	0.29962	.	.	ENSG00000166922	ENST00000300175;ENST00000413748;ENST00000471027	.	.	.	5.08	3.16	0.36331	.	0.394418	0.30630	N	0.009215	T	0.35422	0.0931	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.15870	0.014;0.014	T	0.20672	-1.0268	9	0.06236	T	0.91	.	15.2102	0.73219	0.0:0.7208:0.2792:0.0	.	176;175	P05408;Q6FHD0	7B2_HUMAN;.	K	176;175;166	.	ENSP00000300175:E176K	E	+	1	0	SCG5	30771239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.550000	0.53691	0.808000	0.34231	-0.165000	0.13383	GAG	SCG5	-	pfam_Secretogranin_V	ENSG00000166922		0.468	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCG5	HGNC	protein_coding	OTTHUMT00000355438.1	-	0	139	0	G	NM_003020		32983947	1	tier1	-	no_errors	ENST00000300175	ensembl	human	known	74_37	missense	29.90	68	29	SNP	1.000	A	A	32983947	G	A	32983947	3	1	55	1	0	0	0	0	1	0	0	0	13938	943	33	3	540	3	SCG5	15	32983947	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		32983947	69547445	72	13748											
RYR3	6263	genome.wustl.edu	37	chr15	33955773	33955773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctatctctgcgactgtgaGctgcagcaccgagtggaggc	8	8	14	11	2	1	1	0	1	1	0	2	4	1	2	1	2	5	4	1	2	1	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:33955773G>C	ENST00000389232.4	+	36	5524	c.5454G>C	c.(5452-5454)gaG>gaC	p.E1818D	RYR3_ENST00000415757.3_Missense_Mutation_p.E1818D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1818	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCGACTGTGAGCTGCAGCACC	0.483																																																	0													58	57	57					15																	33955773		2038	4201	6239	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5454G>C	15.37:g.33955773G>C	ENSP00000373884:p.Glu1818Asp		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E1818D	ENST00000389232.4	37	c.5454	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539614	0.45176	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74106	-0.81;-0.81	5.27	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.76463	0.3991	L	0.56769	1.78	0.41927	D	0.990542	P;D	0.54964	0.48;0.969	B;P	0.54706	0.256;0.759	T	0.76394	-0.2975	10	0.59425	D	0.04	.	9.2014	0.37260	0.3891:0.0:0.6109:0.0	.	1818;1818	Q15413-2;Q15413	.;RYR3_HUMAN	D	1818	ENSP00000373884:E1818D;ENSP00000399610:E1818D	ENSP00000354735:E1818D	E	+	3	2	RYR3	31743065	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.773000	0.47686	0.774000	0.33427	0.561000	0.74099	GAG	RYR3	-	NULL	ENSG00000198838		0.483	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	42	0	G			33955773	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C	C	33955773	G	C	33955773	3	2	55	1	0	0	0	0	1	0	0	0	13815	962	34	5	5596	5	RYR3	15	33955773	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	971826	33955773	68575619	73	13749											
SEMA6D	80031	genome.wustl.edu	37	chr15	48055281	48055281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttcgagaaatcgctgtcGaacataataatttaggcaag	14	12	8	7	3	1	1	0	0	1	1	4	3	1	1	0	1	1	2	0	1	6	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:48055281G>A	ENST00000316364.5	+	9	1166	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	SEMA6D_ENST00000537942.1_Missense_Mutation_p.E243K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E243K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E243K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E243K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E243K|SEMA6D_ENST00000355997.3_Missense_Mutation_p.E243K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E243K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E243K|SEMA6D_ENST00000389425.3_Missense_Mutation_p.E243K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E243K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E243K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	243	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AATCGCTGTCGAACATAATAA	0.363																																																	0													81	77	79					15																	48055281		2197	4295	6492	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.727G>A	15.37:g.48055281G>A	ENSP00000324857:p.Glu243Lys		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.E243K	ENST00000316364.5	37	c.727	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.441614	0.96187	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65;1.65	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.71022	0.3291	H	0.96547	3.84	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.995;0.996;0.997;0.998;0.993	T	0.80294	-0.1443	10	0.87932	D	0	.	20.0706	0.97721	0.0:0.0:1.0:0.0	.	243;243;243;243;243	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	K	243	ENSP00000442040:E243K;ENSP00000446152:E243K;ENSP00000324857:E243K;ENSP00000374084:E243K;ENSP00000374083:E243K;ENSP00000346786:E243K;ENSP00000350770:E243K;ENSP00000374079:E243K;ENSP00000348276:E243K;ENSP00000374076:E243K	ENSP00000324857:E243K	E	+	1	0	SEMA6D	45842573	1.000000	0.71417	0.986000	0.45419	0.650000	0.38633	9.476000	0.97823	2.744000	0.94065	0.655000	0.94253	GAA	SEMA6D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000137872		0.363	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	24	0	G	NM_024966		48055281	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	A	A	48055281	G	A	48055281	3	1	55	1	0	0	0	0	1	0	0	0	14087	1059	37	1	757	1	SEMA6D	15	48055281	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	14099508	48055281	54476111	74	13750											
VPS13C	54832	genome.wustl.edu	37	chr15	62244056	62244056	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcactgcatactaattttttTtagataagctttagcagtca	12	16	6	7	0	1	1	1	0	0	1	1	1	1	1	0	0	4	4	0	0	5	9			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:62244056T>G	ENST00000261517.5	-	39	4496	c.4423A>C	c.(4423-4425)Aaa>Caa	p.K1475Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.K1432Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1432Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.K1475Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTAATTTTTTTTAGATAAGCT	0.338																																																	0													124	127	126					15																	62244056		2202	4300	6502	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4423A>C	15.37:g.62244056T>G	ENSP00000261517:p.Lys1475Gln			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.K1475Q	ENST00000261517.5	37	c.4423	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077718	0.36662	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.23552	1.9;1.9;1.9	5.19	2.75	0.32379	.	0.494480	0.20500	N	0.091120	T	0.24967	0.0606	L	0.43923	1.385	0.40432	D	0.979955	P;P;P;P	0.49253	0.507;0.507;0.537;0.921	P;B;B;B	0.44732	0.459;0.361;0.361;0.33	T	0.01661	-1.1301	10	0.41790	T	0.15	.	11.6049	0.51026	0.0:0.0:0.2832:0.7168	.	1432;1475;1432;1475	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Q	1432;1475;1475;1475	ENSP00000249837:K1432Q;ENSP00000261517:K1475Q;ENSP00000379233:K1475Q	ENSP00000249837:K1432Q	K	-	1	0	VPS13C	60031348	0.595000	0.26857	0.002000	0.10522	0.394000	0.30568	2.248000	0.43160	0.262000	0.21774	0.533000	0.62120	AAA	VPS13C	-	NULL	ENSG00000129003		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0	30	0	T	NM_017684		62244056	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.794	G	G	62244056	T	G	62244056	3	3	55	1	0	0	0	0	1	0	0	0	17240	1850	64	4	7054	4	VPS13C	15	62244056	Missense_Mutation	SNP	T	TCGA-L5-A4OF-01A-11D-A27G-09	14188775	62244056	40287336	75	13751											
FAH	2184	genome.wustl.edu	37	chr15	80473446	80473446	+	Frame_Shift_Del	DEL	G	G	-																															ggaacgaagcccatagacctGgggaatggtcagaccaggaa																								rs573995081		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:80473446delG	ENST00000407106.1	+	14	1280	c.1125delG	c.(1123-1125)ctgfs	p.L375fs	FAH_ENST00000539156.1_Frame_Shift_Del_p.L305fs|FAH_ENST00000261755.5_Frame_Shift_Del_p.L375fs|FAH_ENST00000561421.1_Frame_Shift_Del_p.L375fs			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	375					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATAGACCTGGGGAATGGTC	0.522									Tyrosinemia, type 1																																								0													158	142	148					15																	80473446		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.1125delG	15.37:g.80473446delG	ENSP00000385080:p.Leu375fs		B2R9X1|D3DW95|Q53XA7	Frame_Shift_Del	DEL	pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase	p.N377fs	ENST00000407106.1	37	c.1125	CCDS10314.1	15																																																																																			FAH	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel,tigrfam_Fumarylacetoacetase	ENSG00000103876		0.522	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAH	HGNC	protein_coding	OTTHUMT00000291392.2		0	40	0	G			80473446	1	tier1		no_errors	ENST00000261755	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-	-	80473446	G	-	80473446	7	5	55	1	0	1	0	1	0	0	0	0	5390	1335	47	0	1175	0	FAH	15	80473446	Frame_Shift_Del	DEL	G	TCGA-L5-A4OF-01A-11D-A27G-09	18229390	80473446	22057946	76	13752											
AP3B2	8120	genome.wustl.edu	37	chr15	83349865	83349865	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcccctatacacgcaccGtggtcttgtcagccagaagc	9	7	10	15	3	2	1	1	0	1	1	2	1	2	1	4	1	4	1	4	1	3	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr15:83349865G>A	ENST00000261722.3	-	6	794	c.587C>T	c.(586-588)aCg>aTg	p.T196M	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site_p.T164M|AP3B2_ENST00000535359.1_Splice_Site_p.T196M	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	196					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TACACGCACCGTGGTCTTGTC	0.577																																																	0													36	37	37					15																	83349865		1995	4158	6153	SO:0001630	splice_region_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.588+1C>T	15.37:g.83349865G>A			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.T196M	ENST00000261722.3	37	c.587	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.064394	0.93898	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359;ENST00000541693	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.52	5.52	0.82312	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.053547	0.85682	D	0.000000	T	0.49184	0.1542	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.99	T	0.59690	-0.7407	10	0.72032	D	0.01	-22.5565	19.4371	0.94799	0.0:0.0:1.0:0.0	.	164;196;196	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	M	196;164;196;152	ENSP00000261722:T196M;ENSP00000438721:T164M;ENSP00000440984:T196M;ENSP00000441961:T152M	ENSP00000261722:T196M	T	-	2	0	AP3B2	81146919	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.838000	0.99474	2.595000	0.87683	0.563000	0.77884	ACG	AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000103723		0.577	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	-	0	22	0	G		Missense_Mutation	83349865	-1	tier1	-	no_errors	ENST00000261722	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A	A	83349865	G	A	83349865	5	1	55	1	0	0	0	0	0	0	1	0	745	1159	40	1	2669	1	AP3B2	15	83349865	Splice_Site	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	2876419	83349865	19181527	77	13753											
KIAA0430	9665	genome.wustl.edu	37	chr16	15716946	15716946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaatgttgaaagcaagcgGggatgctctgtttaaaaggt	12	11	13	5	1	1	1	0	1	1	0	1	2	1	2	0	3	4	5	0	3	5	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr16:15716946G>T	ENST00000396368.3	-	11	2511	c.2305C>A	c.(2305-2307)Ccg>Acg	p.P769T	KIAA0430_ENST00000602337.1_Missense_Mutation_p.P766T|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P769T|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P766T|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P438T	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	769					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P769S(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AAAGCAAGCGGGGATGCTCTG	0.383																																																	1	Substitution - Missense(1)	lung(1)											87	84	85					16																	15716946		1859	4104	5963	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2305C>A	16.37:g.15716946G>T	ENSP00000379654:p.Pro769Thr		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.P769T	ENST00000396368.3	37	c.2305	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666392	0.88251	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78804	-0.2060	9	0.62326	D	0.03	.	19.838	0.96666	0.0:0.0:1.0:0.0	.	768;766;765	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	T	769;768;438;766;769;616	.	ENSP00000315718:P768T	P	-	1	0	KIAA0430	15624447	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	8.652000	0.91083	2.692000	0.91855	0.650000	0.86243	CCG	KIAA0430	-	NULL	ENSG00000166783		0.383	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2		0	25	0	G	NM_014647		15716946	-1			no_errors	ENST00000396368	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	15716946	G	T	15716946	3	4	55	1	0	0	0	0	1	0	0	0	8204	1232	43	3	2991	3	KIAA0430	16	15716946	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		15716946	74637807	78	13754											
BRD7	29117	genome.wustl.edu	37	chr16	50357595	50357595	+	Frame_Shift_Del	DEL	A	A	-																															gataatcttggcacgtggccAaaaactcatggatgctgcaa																										TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr16:50357595delA	ENST00000394688.3	-	12	1505	c.1346delT	c.(1345-1347)ttgfs	p.L449fs	BRD7_ENST00000394689.2_Frame_Shift_Del_p.L449fs			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	449					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GCACGTGGCCAAAAACTCATG	0.448																																																	0													87	74	79					16																	50357595		2198	4300	6498	SO:0001589	frameshift_variant	0			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1346delT	16.37:g.50357595delA	ENSP00000378180:p.Leu449fs		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Del	DEL	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L449fs	ENST00000394688.3	37	c.1346	CCDS10742.1	16																																																																																			BRD7	-	pfam_DUF3512	ENSG00000166164		0.448	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3		0	49	0	A	NM_013263		50357595	-1	tier1		no_errors	ENST00000394689	ensembl	human	known	74_37	frame_shift_del	51.92	25	27	DEL	1.000	-	-	50357595	A	-	50357595	7	5	55	1	0	1	0	1	0	0	0	0	1509	131	5	0	636	0	BRD7	16	50357595	Frame_Shift_Del	DEL	A	TCGA-L5-A4OF-01A-11D-A27G-09	34640649	50357595	39997158	79	13755											
ZNF778	197320	genome.wustl.edu	37	chr16	89294491	89294491	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgtgggaaaacattcActgtttcttcgagcctaacc	11	11	9	10	1	2	0	1	0	1	0	3	3	2	2	2	2	3	1	2	2	3	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr16:89294491A>T	ENST00000433976.2	+	6	2043	c.1711A>T	c.(1711-1713)Act>Tct	p.T571S	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.T529S	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	571					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GAAAACATTCACTGTTTCTTC	0.428																																																	0													104	108	107					16																	89294491		2185	4295	6480	SO:0001583	missense	0			AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"Zinc fingers, C2H2-type", "-"	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1711A>T	16.37:g.89294491A>T	ENSP00000405289:p.Thr571Ser		Q08AG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T571S	ENST00000433976.2	37	c.1711	CCDS45550.1	16	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.713716	0.00706	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07567	3.18;3.18	0.844	0.844	0.18943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	N	0.01649	-0.78	0.09310	N	1	P;P	0.41569	0.711;0.755	B;B	0.36134	0.106;0.218	T	0.23833	-1.0177	9	0.02654	T	1	.	5.9223	0.19088	1.0:0.0:0.0:0.0	.	529;571	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	S	571;529	ENSP00000405289:T571S;ENSP00000305203:T529S	ENSP00000305203:T529S	T	+	1	0	ZNF778	87821992	0.000000	0.05858	0.303000	0.25071	0.237000	0.25408	-1.916000	0.01576	0.625000	0.30304	0.445000	0.29226	ACT	ZNF778	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170100		0.428	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF778	HGNC	protein_coding	OTTHUMT00000430383.1	-	0	41	0	A	NM_182531		89294491	1	tier1	-	no_errors	ENST00000433976	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.230	T	T	89294491	A	T	89294491	3	4	55	1	0	0	0	0	1	0	0	0	18199	159	6	5	1729	5	ZNF778	16	89294491	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09	38936896	89294491	1060262	80	13756											
ATP2A3	489	genome.wustl.edu	37	chr17	3839574	3839574	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactcacctccgatagccagGtatcggaagaagagccagcc	12	5	10	14	2	1	2	1	0	0	2	3	4	2	3	5	2	3	1	5	2	4	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:3839574G>T	ENST00000352011.3	-	16	2565	c.2511C>A	c.(2509-2511)taC>taA	p.Y837*	ATP2A3_ENST00000397043.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000309890.7_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000397035.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000359983.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000397041.3_Nonsense_Mutation_p.Y837*|ATP2A3_ENST00000397039.1_Nonsense_Mutation_p.Y21*			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	837					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CGATAGCCAGGTATCGGAAGA	0.597																																					GBM(32;29 774 15719 37967)												0													48	52	51					17																	3839574		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"ATPases / P-type"	813	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 3", "calcium pump 3"	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.2511C>A	17.37:g.3839574G>T	ENSP00000301387:p.Tyr837*		A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.Y837*	ENST00000352011.3	37	c.2511	CCDS11041.1	17	.	.	.	.	.	.	.	.	.	.	G	40	7.981601	0.98594	.	.	ENSG00000074370	ENST00000397043;ENST00000397039;ENST00000352011;ENST00000359983;ENST00000397041;ENST00000397045;ENST00000309890;ENST00000397035	.	.	.	4.43	-1.46	0.08800	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.005	0.53255	0.339:0.0:0.661:0.0	.	.	.	.	X	837;21;837;837;837;837;837;837	.	ENSP00000312577:Y837X	Y	-	3	2	ATP2A3	3786323	1.000000	0.71417	0.975000	0.42487	0.883000	0.51084	0.736000	0.26130	-0.308000	0.08792	-0.258000	0.10820	TAC	ATP2A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000074370		0.597	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	HGNC	protein_coding	OTTHUMT00000438401.1	-	0	70	0	G	NM_174953		3839574	-1	tier1	-	no_errors	ENST00000359983	ensembl	human	known	74_37	nonsense	13.56	51	8	SNP	0.987	T	T	3839574	G	T	3839574	4	4	55	1	0	0	0	0	0	1	0	0	1139	1256	44	3	723	3	ATP2A3	17	3839574	Nonsense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		3839574	77355636	81	13757											
C17orf49	124944	genome.wustl.edu	37	chr17	6919106	6919106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgacagtgcgaagtggacgGagacggaaatagagatgctg	13	6	16	6	3	0	3	0	1	0	2	0	8	0	5	0	3	2	1	0	3	3	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:6919106G>A	ENST00000439424.2	+	3	206	c.130G>A	c.(130-132)Gag>Aag	p.E44K	AC040977.1_ENST00000593646.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000572453.1_RNA|C17orf49_ENST00000546495.1_Missense_Mutation_p.E44K|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000443997.1_RNA|MIR497HG_ENST00000385056.1_RNA|C17orf49_ENST00000546760.1_Missense_Mutation_p.E44K|C17orf49_ENST00000552775.1_Missense_Mutation_p.E18K|RNASEK-C17orf49_ENST00000547302.2_Silent_p.R84R|C17orf49_ENST00000552402.1_Intron	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49	44	SANT.				chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						GAAGTGGACGGAGACGGAAAT	0.572																																																	0													83	72	75					17																	6919106		2203	4300	6503	SO:0001583	missense	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"BPTF associated protein of 18 kDa", "human embryo lung cellular protein interacting with SARS-CoV nsp-10"						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147	ENST00000439424.2:c.130G>A	17.37:g.6919106G>A	ENSP00000411851:p.Glu44Lys		B4DIV3|C9J4G0|E9PB29	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E44K	ENST00000439424.2	37	c.130	CCDS32542.1	17	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758146	0.89843	.	.	ENSG00000161939;ENSG00000258315;ENSG00000258315;ENSG00000258315;ENSG00000258315	ENST00000293804;ENST00000546495;ENST00000546760;ENST00000439424;ENST00000552775	.	.	.	4.84	4.84	0.62591	SANT domain, DNA binding (1);Homeodomain-like (1);	0.184484	0.45606	D	0.000350	T	0.53642	0.1809	L	0.59436	1.845	0.30895	N	0.729931	B;B;B	0.34290	0.081;0.275;0.447	B;B;B	0.29942	0.046;0.109;0.109	T	0.69198	-0.5208	8	0.72032	D	0.01	-6.7344	15.466	0.75400	0.0:0.0:1.0:0.0	.	44;44;18	C9J4G0;Q8IXM2;F8W1H0	.;BAP18_HUMAN;.	K	44;44;44;44;18	.	ENSP00000411851:E44K	E	+	1	0	AC040977.1;C17orf49	6859830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	2.496000	0.84212	0.563000	0.77884	GAG	C17orf49	-	superfamily_Homeodomain-like	ENSG00000258315		0.572	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf49	HGNC	protein_coding	OTTHUMT00000407666.1		0	56	0	G	NM_174893		6919106	1			no_errors	ENST00000546495	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A	A	6919106	G	A	6919106	3	1	55	1	0	0	0	0	1	0	0	0	1866	1175	41	3	140	3	C17orf49	17	6919106	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	3079532	6919106	74276104	82	13758											
TP53	7157	genome.wustl.edu	37	chr17	7577515	7577517	+	In_Frame_Del	DEL	TGA	TGA	-																															tgacctggagtcttccagtgTgatgatggtgaggatgggcc																								rs587781433		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:7577515_7577517delTGA	ENST00000269305.4	-	7	953_955	c.764_766delTCA	c.(763-768)atcaca>aca	p.I255del	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.I255del|TP53_ENST00000445888.2_In_Frame_Del_p.I255del|TP53_ENST00000455263.2_In_Frame_Del_p.I255del|TP53_ENST00000420246.2_In_Frame_Del_p.I255del|TP53_ENST00000413465.2_In_Frame_Del_p.I255del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255S(10)|p.0?(8)|p.I255N(7)|p.I255del(7)|p.I255T(7)|p.T256A(3)|p.T256fs*89(3)|p.T256fs*8(2)|p.T256S(2)|p.I255I(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I255M(1)|p.T256fs*90(1)|p.T256P(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.T256fs*17(1)|p.I254_T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTTCCAGTGTGATGATGGTGAG	0.586		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	62	Substitution - Missense(31)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Substitution - coding silent(2)|Unknown(1)	breast(15)|ovary(7)|pancreas(6)|central_nervous_system(5)|bone(5)|upper_aerodigestive_tract(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|oesophagus(3)|lung(3)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)																																								SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.764_766delTCA	17.37:g.7577518_7577520delTGA	ENSP00000269305:p.Ile255del		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I255in_frame_del	ENST00000269305.4	37	c.766_764	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.586	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	216	0	TGA	NM_000546		7577517	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_del	41.67	119	85	DEL	1.000:1.000:1.000	-	-	7577517	TGA	-	7577515	7	5	55	1	0	1	0	1	0	0	0	0	16429	1696	59	0	524	0	TP53	17	7577515	In_Frame_Del	DEL	TGA	TCGA-L5-A4OF-01A-11D-A27G-09	658409	7577515	73617695	83	13759											
PIGW	284098	genome.wustl.edu	37	chr17	34893067	34893067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgtgcagagggttcctGatcattttctcacagtactt	8	15	8	10	0	2	2	2	1	1	1	5	2	4	2	2	1	2	3	2	1	1	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:34893067G>A	ENST00000592983.1	+	2	697	c.117G>A	c.(115-117)ctG>ctA	p.L39L	MYO19_ENST00000544606.1_5'Flank|MYO19_ENST00000590081.1_Intron|MYO19_ENST00000586007.1_5'Flank|MYO19_ENST00000268852.9_5'Flank|MYO19_ENST00000431794.3_5'Flank|PIGW_ENST00000328396.2_Silent_p.L39L			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	39					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGGGTTCCTGATCATTTTCT	0.443																																																	0													236	210	219					17																	34893067		2203	4300	6503	SO:0001819	synonymous_variant	0			AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"Phosphatidylinositol glycan anchor biosynthesis"	23213	protein-coding gene	gene with protein product		610275	"phosphatidylinositol glycan, class W"			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.117G>A	17.37:g.34893067G>A			Q8N9G3	Silent	SNP	pfam_GWT1,pirsf_GWT1	p.L39	ENST00000592983.1	37	c.117	CCDS11313.1	17																																																																																			PIGW	-	pirsf_GWT1	ENSG00000184886		0.443	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGW	HGNC	protein_coding	OTTHUMT00000451318.1	-	0	62	0	G	NM_178517		34893067	1	tier1	-	no_errors	ENST00000328396	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.084	A	A	34893067	G	A	34893067	2	1	55	1	0	0	0	0	0	0	0	1	11941	1277	45	3		3	PIGW	17	34893067	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	27315552	34893067	46302143	84	13760											
ACE	1636	genome.wustl.edu	37	chr17	61559062	61559062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggaagtggtgtgccacGcctcggcttgggacttctac	5	9	16	11	3	1	0	0	0	1	0	2	2	1	2	2	5	2	1	2	5	2	3	rs546455400		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:61559062G>A	ENST00000290866.4	+	7	1105	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Missense_Mutation_p.A361T|ACE_ENST00000428043.1_Missense_Mutation_p.A361T	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	361	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGTGTGCCACGCCTCGGCTTG	0.632													G|||	1	0.000199681	0	0	5008	,	,		17079	0.001		0	False		,,,				2504	0																0													53	60	58					17																	61559062		2203	4300	6503	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"CD molecules"	2707	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	106180	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1081G>A	17.37:g.61559062G>A	ENSP00000290866:p.Ala361Thr		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.A361T	ENST00000290866.4	37	c.1081	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938912	0.92526	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.38077	1.16;1.16;1.16	4.19	4.19	0.49359	.	0.114855	0.64402	D	0.000017	T	0.68742	0.3034	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.992	T	0.78570	-0.2153	10	0.62326	D	0.03	-13.035	16.7198	0.85407	0.0:0.0:1.0:0.0	.	361;361;361	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	T	361	ENSP00000439591:A361T;ENSP00000290866:A361T;ENSP00000397593:A361T	ENSP00000290866:A361T	A	+	1	0	ACE	58912794	1.000000	0.71417	0.879000	0.34478	0.731000	0.41821	9.657000	0.98554	2.153000	0.67306	0.561000	0.74099	GCC	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	-	0	87	0	G			61559062	1	tier1	-	no_errors	ENST00000290866	ensembl	human	known	74_37	missense	17.81	59	13	SNP	1.000	A	A	61559062	G	A	61559062	3	1	55	1	0	0	0	0	1	0	0	0	136	1087	38	1	1107	1	ACE	17	61559062	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	26665995	61559062	19636148	85	13761											
ABCA5	23461	genome.wustl.edu	37	chr17	67257342	67257342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcataatgaagaatagttGcaattgtgtatcccataaag	16	11	9	5	0	0	2	0	1	0	1	1	2	1	2	1	1	1	4	1	1	8	6			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr17:67257342G>T	ENST00000392676.3	-	26	3552	c.3488C>A	c.(3487-3489)gCa>gAa	p.A1163E	ABCA5_ENST00000588877.1_Missense_Mutation_p.A1163E|ABCA5_ENST00000392677.2_Missense_Mutation_p.A1164E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1163					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAGAATAGTTGCAATTGTGTA	0.299																																																	0													48	48	48					17																	67257342		2199	4293	6492	SO:0001583	missense	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3488C>A	17.37:g.67257342G>T	ENSP00000376443:p.Ala1163Glu		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1164E	ENST00000392676.3	37	c.3491	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	9.113	1.007005	0.19199	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.87029	-2.2;-2.2	5.33	5.33	0.75918	.	0.186208	0.37761	N	0.001942	D	0.82356	0.5019	L	0.27053	0.805	0.09310	N	0.999999	B	0.19445	0.036	B	0.30029	0.11	T	0.66081	-0.6012	9	.	.	.	.	18.9961	0.92813	0.0:0.0:1.0:0.0	.	1163	Q8WWZ7	ABCA5_HUMAN	E	1164;1163	ENSP00000376444:A1164E;ENSP00000376443:A1163E	.	A	-	2	0	ABCA5	64768937	0.397000	0.25270	0.038000	0.18304	0.460000	0.32559	3.826000	0.55738	2.649000	0.89929	0.650000	0.86243	GCA	ABCA5	-	NULL	ENSG00000154265		0.299	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	-	0	28	0	G	NM_018672		67257342	-1	tier1	-	no_errors	ENST00000392677	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.051	T	T	67257342	G	T	67257342	3	4	55	1	0	0	0	0	1	0	0	0	35	1319	46	3	1496	3	ABCA5	17	67257342	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	5698280	67257342	13937868	86	13762											
ASXL3	80816	genome.wustl.edu	37	chr18	31323377	31323377	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagcagtctcttaacccaAgtaaacttccagaaactgcc	14	9	5	13	0	1	1	0	0	1	1	3	1	2	1	3	0	6	2	3	0	6	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr18:31323377A>G	ENST00000269197.5	+	12	3565	c.3565A>G	c.(3565-3567)Agt>Ggt	p.S1189G		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTTAACCCAAGTAAACTTCC	0.428																																																	0													50	48	48					18																	31323377		1900	4124	6024	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3565A>G	18.37:g.31323377A>G	ENSP00000269197:p.Ser1189Gly		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S1189G	ENST00000269197.5	37	c.3565	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	5.863	0.343340	0.11069	.	.	ENSG00000141431	ENST00000269197	T	0.46063	0.88	5.91	-6.4	0.01944	.	1.072570	0.07148	N	0.848496	T	0.20659	0.0497	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.31833	-0.9929	10	0.59425	D	0.04	.	4.9399	0.13960	0.2244:0.2202:0.4633:0.0921	.	1189	Q9C0F0	ASXL3_HUMAN	G	1189	ENSP00000269197:S1189G	ENSP00000269197:S1189G	S	+	1	0	ASXL3	29577375	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	0.196000	0.17176	-0.675000	0.05246	-0.256000	0.11100	AGT	ASXL3	-	NULL	ENSG00000141431		0.428	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	24	0	A			31323377	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.000	G	G	31323377	A	G	31323377	3	3	55	1	0	0	0	0	1	0	0	0	1069	72	3	4	3611	4	ASXL3	18	31323377	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09		31323377	46753871	87	13763											
NETO1	81832	genome.wustl.edu	37	chr18	70417507	70417507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttgtgctgaggttactgCggctgcctttagtgctggac	4	14	13	10	1	1	1	0	1	1	0	1	2	1	2	1	3	5	4	1	3	2	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr18:70417507C>T	ENST00000327305.6	-	9	1988	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	NETO1_ENST00000583169.1_Missense_Mutation_p.R444H|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000299430.2_Missense_Mutation_p.R443H	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	444					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGGTTACTGCGGCTGCCTTT	0.473																																																	0													151	138	142					18																	70417507		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1331G>A	18.37:g.70417507C>T	ENSP00000313088:p.Arg444His		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.R444H	ENST00000327305.6	37	c.1331	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824131	0.90873	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.43294	0.95;0.95	5.66	4.78	0.61160	.	0.000000	0.64402	D	0.000008	T	0.61961	0.2389	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.955;0.985	T	0.64968	-0.6282	10	0.87932	D	0	-21.957	15.012	0.71557	0.0:0.9303:0.0:0.0697	.	443;444	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	H	444;443	ENSP00000313088:R444H;ENSP00000299430:R443H	ENSP00000299430:R443H	R	-	2	0	NETO1	68568487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	2.668000	0.90789	0.460000	0.39030	CGC	NETO1	-	NULL	ENSG00000166342		0.473	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0	101	0	C	NM_138999		70417507	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	27.03	54	20	SNP	1.000	T	T	70417507	C	T	70417507	3	4	55	1	0	0	0	0	1	0	0	0	10378	768	27	1	278	1	NETO1	18	70417507	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	39094130	70417507	7659741	88	13764											
FUT6	2528	genome.wustl.edu	37	chr19	5831951	5831951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgggcctgcaggctctGgtagtagcgcaccctggcgg	6	7	17	11	2	1	1	0	0	1	1	1	2	1	1	2	5	2	5	2	5	2	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:5831951G>C	ENST00000318336.4	-	3	1822	c.628C>G	c.(628-630)Cag>Gag	p.Q210E	FUT6_ENST00000524754.1_Missense_Mutation_p.Q210E|FUT6_ENST00000527106.1_Missense_Mutation_p.Q210E|FUT6_ENST00000286955.5_Missense_Mutation_p.Q210E|FUT6_ENST00000592563.1_Missense_Mutation_p.Q210E	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	210					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGCAGGCTCTGGTAGTAGCGC	0.647																																																	0													93	87	89					19																	5831951		2203	4300	6503	SO:0001583	missense	0				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"Fucosyltransferases"	4017	protein-coding gene	gene with protein product	"alpha-(1,3)-fucosyltransferase", "galactoside 3-L-fucosyltransferase"	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.628C>G	19.37:g.5831951G>C	ENSP00000313398:p.Gln210Glu		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.Q210E	ENST00000318336.4	37	c.628	CCDS12152.1	19	.	.	.	.	.	.	.	.	.	.	G	2.698	-0.271624	0.05716	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	2.99	-3.7	0.04437	.	1.096330	0.07121	N	0.843960	T	0.07773	0.0195	N	0.10837	0.055	0.09310	N	0.999999	B;B	0.12013	0.002;0.005	B;B	0.22152	0.017;0.038	T	0.38478	-0.9659	10	0.07482	T	0.82	.	2.9289	0.05793	0.1232:0.4685:0.246:0.1623	.	210;210	C9J8A2;P51993	.;FUT6_HUMAN	E	210	ENSP00000431708:Q210E;ENSP00000432954:Q210E;ENSP00000313398:Q210E;ENSP00000286955:Q210E	ENSP00000286955:Q210E	Q	-	1	0	FUT6	5782951	0.000000	0.05858	0.002000	0.10522	0.171000	0.22731	-1.308000	0.02730	-0.258000	0.09446	0.430000	0.28490	CAG	FUT6	-	pfam_Glyco_trans_10	ENSG00000156413		0.647	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT6	HGNC	protein_coding	OTTHUMT00000394218.2	-	0	75	0	G	NM_000150		5831951	-1	tier1	-	no_errors	ENST00000592563	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.374	C	C	5831951	G	C	5831951	3	2	55	1	0	0	0	0	1	0	0	0	6132	1357	47	5	455	5	FUT6	19	5831951	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		5831951	53297032	89	13765											
PNPLA6	10908	genome.wustl.edu	37	chr19	7606252	7606252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagatcatcatggtgCggctgcagcgagtcaccttc	7	9	11	14	2	3	1	3	0	0	1	4	2	3	1	2	2	4	3	2	2	0	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:7606252C>T	ENST00000221249.6	+	11	1251	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	PNPLA6_ENST00000414982.3_Missense_Mutation_p.R322W|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R313W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R274W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R274W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	313					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CATCATGGTGCGGCTGCAGCG	0.647																																																	0													46	40	42					19																	7606252		2203	4300	6503	SO:0001583	missense	0			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.820C>T	19.37:g.7606252C>T	ENSP00000221249:p.Arg274Trp		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R322W	ENST00000221249.6	37	c.964	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044277	0.75732	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.99	1.35	0.21983	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.65883	0.2734	M	0.79693	2.465	0.58432	D	0.999999	B;D;B;D	0.59767	0.034;0.967;0.057;0.986	B;P;B;P	0.55112	0.032;0.616;0.069;0.769	T	0.72354	-0.4319	10	0.87932	D	0	.	13.9486	0.64101	0.2406:0.7594:0.0:0.0	.	313;274;313;274	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	W	274;274;322;211;274	ENSP00000221249:R274W;ENSP00000443323:R274W;ENSP00000407509:R322W;ENSP00000394348:R274W	ENSP00000221249:R274W	R	+	1	2	PNPLA6	7512252	1.000000	0.71417	0.907000	0.35723	0.815000	0.46073	1.740000	0.38228	0.221000	0.20879	0.462000	0.41574	CGG	PNPLA6	-	superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000032444		0.647	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	-	0	43	0	C	NM_006702		7606252	1	tier1	-	no_errors	ENST00000414982	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.997	T	T	7606252	C	T	7606252	3	4	55	1	0	0	0	0	1	0	0	0	12208	759	27	1	998	1	PNPLA6	19	7606252	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	1774301	7606252	51522731	90	13766											
LPHN1	22859	genome.wustl.edu	37	chr19	14274196	14274196	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctccagcaccttctgCagggtccctgggcacacgaa	7	7	13	14	1	1	0	0	0	1	0	3	1	3	0	3	3	2	4	3	3	1	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:14274196C>A	ENST00000340736.6	-	6	729	c.432G>T	c.(430-432)ctG>ctT	p.L144L	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'UTR|LPHN1_ENST00000361434.3_Silent_p.L139L|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	144	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCACCTTCTGCAGGGTCCCTG	0.647																																																	0													16	14	14					19																	14274196		2198	4294	6492	SO:0001819	synonymous_variant	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.432G>T	19.37:g.14274196C>A			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.L144	ENST00000340736.6	37	c.432	CCDS32928.1	19																																																																																			LPHN1	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000072071		0.647	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1		0	37	0	C	NM_014921		14274196	-1			no_errors	ENST00000340736	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.999	A	A	14274196	C	A	14274196	2	1	55	1	0	0	0	0	0	0	0	1	8950	697	25	3		3	LPHN1	19	14274196	Silent	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	6667944	14274196	44854787	91	13767											
SYDE1	85360	genome.wustl.edu	37	chr19	15221361	15221361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacagctggccgtgcgcCtggagcctcaggggctgctg	5	6	15	15	2	1	0	1	0	0	0	1	1	1	1	4	4	5	3	4	4	1	0			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:15221361C>A	ENST00000342784.2	+	4	1136	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M	SYDE1_ENST00000600252.1_Missense_Mutation_p.L26M|SYDE1_ENST00000600440.1_Missense_Mutation_p.L302M	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	369					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGCCGTGCGCCTGGAGCCTCA	0.677																																																	0													9	9	9					19																	15221361		2155	4227	6382	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1105C>A	19.37:g.15221361C>A	ENSP00000341489:p.Leu369Met		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L369M	ENST00000342784.2	37	c.1105	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	c	17.55	3.418619	0.62622	.	.	ENSG00000105137	ENST00000342784	T	0.18810	2.19	4.82	4.82	0.62117	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000053	T	0.38401	0.1039	L	0.58510	1.815	0.51767	D	0.99993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.07770	-1.0755	10	0.41790	T	0.15	.	9.1022	0.36676	0.0:0.899:0.0:0.101	.	302;302;369	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	M	369	ENSP00000341489:L369M	ENSP00000341489:L369M	L	+	1	2	SYDE1	15082361	0.901000	0.30685	0.998000	0.56505	0.781000	0.44180	1.783000	0.38664	2.231000	0.72958	0.486000	0.48141	CTG	SYDE1	-	superfamily_C2_dom	ENSG00000105137		0.677	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1		0	12	0	C	NM_033025		15221361	1			no_errors	ENST00000342784	ensembl	human	known	74_37	missense	33.33	6	3	SNP	1.000	A	A	15221361	C	A	15221361	3	1	55	1	0	0	0	0	1	0	0	0	15482	680	24	3	1119	3	SYDE1	19	15221361	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	947165	15221361	43907622	92	13768											
RASAL3	64926	genome.wustl.edu	37	chr19	15563476	15563476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggctcacccagcacGgagcctggagtccagatcct	7	6	14	14	1	1	1	1	0	0	1	3	3	3	3	4	4	2	3	4	4	0	0	rs371247954		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:15563476G>C	ENST00000343625.7	-	16	2906	c.2821C>G	c.(2821-2823)Cgt>Ggt	p.R941G	WIZ_ENST00000263381.7_5'Flank|WIZ_ENST00000389282.4_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	941					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CACCCAGCACGGAGCCTGGAG	0.682																																																	0									GLY/ARG	2,3928		0,2,1963	10	13	12		2821	-5.4	0	19		12	2,8108		0,2,4053	no	missense	RASAL3	NM_022904.1	125	0,4,6016	CC,CG,GG		0.0247,0.0509,0.0332	benign	941/1012	15563476	4,12036	1965	4055	6020	SO:0001583	missense	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.2821C>G	19.37:g.15563476G>C	ENSP00000341905:p.Arg941Gly		Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP	p.R941G	ENST00000343625.7	37	c.2821	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	g	7.125	0.578770	0.13686	5.09E-4	2.47E-4	ENSG00000105122	ENST00000343625	D	0.82803	-1.65	3.54	-5.41	0.02648	.	0.794205	0.10550	N	0.661568	T	0.60248	0.2254	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45702	-0.9243	10	0.22706	T	0.39	.	2.312	0.04188	0.105:0.2855:0.3526:0.2569	.	941	Q86YV0	RASL3_HUMAN	G	941	ENSP00000341905:R941G	ENSP00000341905:R941G	R	-	1	0	RASAL3	15424476	0.000000	0.05858	0.004000	0.12327	0.014000	0.08584	-1.968000	0.01507	-1.061000	0.03185	-2.977000	0.00080	CGT	RASAL3	-	NULL	ENSG00000105122		0.682	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	-	0	36	0	G	NM_022904		15563476	-1	tier1	-	no_errors	ENST00000343625	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.002	C	C	15563476	G	C	15563476	3	2	55	1	0	0	0	0	1	0	0	0	13110	1116	39	5	226	5	RASAL3	19	15563476	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	342115	15563476	43565507	93	13769											
LRP3	4037	genome.wustl.edu	37	chr19	33697172	33697172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccccgcaaggtcatcaCggcggcgctcattggcagcc	6	6	13	16	5	3	0	3	0	0	0	3	0	3	0	3	4	2	3	3	4	1	1	rs149990905		TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:33697172C>T	ENST00000253193.7	+	5	1698	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	499					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AAGGTCATCACGGCGGCGCTC	0.657																																																	0								C	MET/THR	0,4400		0,0,2200	23	23	23		1496	5.2	0.9	19	dbSNP_134	23	1,8585		0,1,4292	no	missense	LRP3	NM_002333.3	81	0,1,6492	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	499/771	33697172	1,12985	2200	4293	6493	SO:0001583	missense	0			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1496C>T	19.37:g.33697172C>T	ENSP00000253193:p.Thr499Met		B3KQD6|B4DKF2	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.T499M	ENST00000253193.7	37	c.1496	CCDS12430.1	19	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928590	0.73327	0.0	1.16E-4	ENSG00000130881	ENST00000253193	D	0.88975	-2.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.92675	0.7672	L	0.52011	1.625	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	P;D	0.71656	0.877;0.974	D	0.93343	0.6711	10	0.72032	D	0.01	-39.0053	17.7181	0.88343	0.0:1.0:0.0:0.0	.	499;417	O75074;B7ZAJ9	LRP3_HUMAN;.	M	499	ENSP00000253193:T499M	ENSP00000253193:T499M	T	+	2	0	LRP3	38389012	1.000000	0.71417	0.944000	0.38274	0.396000	0.30629	6.044000	0.71012	2.437000	0.82529	0.491000	0.48974	ACG	LRP3	-	NULL	ENSG00000130881		0.657	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP3	HGNC	protein_coding	OTTHUMT00000450842.4	-	0	66	0	C			33697172	1	tier1	rs149990905	no_errors	ENST00000253193	ensembl	human	known	74_37	missense	27.27	48	18	SNP	1.000	T	T	33697172	C	T	33697172	3	4	55	1	0	0	0	0	1	0	0	0	8993	536	19	1	1514	1	LRP3	19	33697172	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	18133696	33697172	25431811	94	13770											
RYR1	6261	genome.wustl.edu	37	chr19	38957020	38957020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctacggctacaacatcgagCctcctgaccaggagcccagt	10	6	10	15	2	0	1	0	1	0	0	2	3	1	2	4	2	5	2	4	2	3	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:38957020C>T	ENST00000359596.3	+	24	3160	c.3160C>T	c.(3160-3162)Cct>Tct	p.P1054S	RYR1_ENST00000355481.4_Missense_Mutation_p.P1054S|RYR1_ENST00000360985.3_Missense_Mutation_p.P1054S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1054	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.P1054S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAACATCGAGCCTCCTGACCA	0.662																																																	1	Substitution - Missense(1)	large_intestine(1)											19	18	19					19																	38957020		2166	4250	6416	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3160C>T	19.37:g.38957020C>T	ENSP00000352608:p.Pro1054Ser		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.P1054S	ENST00000359596.3	37	c.3160	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	c	7.865	0.726928	0.15439	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.91068	-2.78;-2.78;-2.78	2.94	2.94	0.34122	B30.2/SPRY domain (1);Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.93468	0.7916	M	0.66378	2.025	0.46654	D	0.999144	D;D	0.76494	0.999;0.973	D;D	0.68943	0.961;0.932	D	0.92378	0.5911	10	0.33141	T	0.24	.	14.7726	0.69691	0.0:1.0:0.0:0.0	.	1054;1054	P21817-2;P21817	.;RYR1_HUMAN	S	1054	ENSP00000352608:P1054S;ENSP00000347667:P1054S;ENSP00000354254:P1054S	ENSP00000347667:P1054S	P	+	1	0	RYR1	43648860	1.000000	0.71417	0.981000	0.43875	0.504000	0.33889	2.448000	0.44926	1.988000	0.58038	0.444000	0.29173	CCT	RYR1	-	pfam_Ryanodine_rcpt,pfscan_B30.2/SPRY	ENSG00000196218		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1		0	13	0	C			38957020	1			no_errors	ENST00000359596	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	38957020	C	T	38957020	3	4	55	1	0	0	0	0	1	0	0	0	13813	739	26	3	3254	3	RYR1	19	38957020	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	5259848	38957020	20171963	95	13771											
MEGF8	1954	genome.wustl.edu	37	chr19	42841022	42841022	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatgtgtggacgacgctGaaggggcgggatgggcttca	7	7	19	8	4	1	1	1	1	0	0	1	4	1	3	0	6	0	3	0	6	1	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:42841022G>T	ENST00000251268.6	+	7	1308	c.1308G>T	c.(1306-1308)ctG>ctT	p.L436L	MEGF8_ENST00000334370.4_Silent_p.L436L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	436					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGACGACGCTGAAGGGGCGGG	0.602																																																	0													94	82	86					19																	42841022		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1308G>T	19.37:g.42841022G>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.L436	ENST00000251268.6	37	c.1308		19																																																																																			MEGF8	-	NULL	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0	92	0	G	NM_001410		42841022	1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	silent	13.46	90	14	SNP	0.935	T	T	42841022	G	T	42841022	2	4	55	1	0	0	0	0	0	0	0	1	9501	1277	45	3		3	MEGF8	19	42841022	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	3884002	42841022	16287961	96	13772											
OPA3	80207	genome.wustl.edu	37	chr19	46056917	46056917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctgcagcgcttccagcGccagcgccaggtggcccacc	5	4	13	19	4	0	0	0	0	0	0	1	0	1	0	6	2	4	2	6	2	0	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:46056917G>A	ENST00000263275.4	-	2	449	c.395C>T	c.(394-396)gCg>gTg	p.A132V	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.A79V	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	132					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGCTTCCAGCGCCAGCGCCAG	0.716																																																	0													11	14	13					19																	46056917		2160	4202	6362	SO:0001583	missense	0			AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.395C>T	19.37:g.46056917G>A	ENSP00000263275:p.Ala132Val		Q6P384|Q8N784	Missense_Mutation	SNP	pfam_OPA3-like	p.A132V	ENST00000263275.4	37	c.395	CCDS12668.1	19	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727566	0.30593	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.83506	-1.73;-1.73	4.77	4.77	0.60923	.	.	.	.	.	T	0.69486	0.3116	N	0.16743	0.435	0.26034	N	0.981707	B	0.17268	0.021	B	0.12837	0.008	T	0.55315	-0.8160	9	0.30078	T	0.28	.	9.1046	0.36689	0.0978:0.0:0.9022:0.0	.	132	Q9H6K4	OPA3_HUMAN	V	132;79	ENSP00000263275:A132V;ENSP00000442839:A79V	ENSP00000263275:A132V	A	-	2	0	OPA3	50748757	0.002000	0.14202	0.838000	0.33150	0.620000	0.37586	1.039000	0.30266	2.653000	0.90120	0.561000	0.74099	GCG	OPA3	-	pfam_OPA3-like	ENSG00000125741		0.716	OPA3-002	KNOWN	basic|CCDS	protein_coding	OPA3	HGNC	protein_coding	OTTHUMT00000459601.1	-	0	14	0	G			46056917	-1	tier1	-	no_errors	ENST00000263275	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.821	A	A	46056917	G	A	46056917	3	1	55	1	0	0	0	0	1	0	0	0	10911	1087	38	1	553	1	OPA3	19	46056917	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	3215895	46056917	13072066	97	13773											
ZNF418	147686	genome.wustl.edu	37	chr19	58437844	58437844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatttcccacattctcTgcactcataaggtctttctg	10	14	6	11	0	4	1	1	0	3	1	6	2	5	1	1	1	1	1	1	1	3	4			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr19:58437844T>C	ENST00000396147.1	-	4	1996	c.1705A>G	c.(1705-1707)Aga>Gga	p.R569G	ZNF418_ENST00000599852.1_Missense_Mutation_p.R484G|ZNF418_ENST00000595830.1_Missense_Mutation_p.R569G|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.R590G|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CCACATTCTCTGCACTCATAA	0.438																																																	0													75	78	77					19																	58437844		2197	4297	6494	SO:0001583	missense	0			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"Zinc fingers, C2H2-type", "-"	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1705A>G	19.37:g.58437844T>C	ENSP00000379451:p.Arg569Gly		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R569G	ENST00000396147.1	37	c.1705	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	6.242	0.412725	0.11812	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.14516	2.5;2.5	2.41	-4.82	0.03171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	N	0.11870	0.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	9	0.44086	T	0.13	.	7.2846	0.26330	0.0:0.5098:0.2715:0.2186	.	569	Q8TF45	ZN418_HUMAN	G	569;590;535	ENSP00000379451:R569G;ENSP00000407039:R590G	ENSP00000379451:R569G	R	-	1	2	ZNF418	63129656	0.000000	0.05858	0.003000	0.11579	0.083000	0.17756	-4.967000	0.00165	-1.197000	0.02673	-0.736000	0.03550	AGA	ZNF418	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196724		0.438	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1		0	55	0	T	NM_133460		58437844	-1			no_errors	ENST00000396147	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	C	C	58437844	T	C	58437844	3	2	55	1	0	0	0	0	1	0	0	0	17943	1588	55	4	329	4	ZNF418	19	58437844	Missense_Mutation	SNP	T	TCGA-L5-A4OF-01A-11D-A27G-09	12380927	58437844	691139	98	13774											
DDRGK1	65992	genome.wustl.edu	37	chr20	3175910	3175910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctctcctacgccttcCtcctccaccacaaaggcctc	7	10	5	19	1	1	0	0	0	1	0	7	0	5	0	7	2	1	0	7	2	2	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:3175910C>G	ENST00000354488.3	-	5	657	c.600G>C	c.(598-600)gaG>gaC	p.E200D	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E200D	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	200						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CTACGCCTTCCTCCTCCACCA	0.627																																																	0													171	145	154					20																	3175910		2203	4300	6503	SO:0001583	missense	0			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"Dashurin"		"chromosome 20 open reading frame 116"	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.600G>C	20.37:g.3175910C>G	ENSP00000346483:p.Glu200Asp		A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	pfam_DDRGK_dom-contain	p.E200D	ENST00000354488.3	37	c.600	CCDS13050.1	20	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210463	0.39003	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.54279	0.58	4.66	1.53	0.23141	.	0.158497	0.53938	D	0.000046	T	0.50786	0.1636	M	0.64676	1.99	0.48452	D	0.999658	B;B	0.32653	0.379;0.213	B;B	0.40477	0.33;0.135	T	0.48456	-0.9034	10	0.46703	T	0.11	-5.2537	8.2345	0.31618	0.0:0.7127:0.0:0.2873	.	200;200	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	D	200	ENSP00000346483:E200D	ENSP00000346483:E200D	E	-	3	2	DDRGK1	3123910	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.746000	0.26275	0.544000	0.28883	0.563000	0.77884	GAG	DDRGK1	-	pfam_DDRGK_dom-contain	ENSG00000198171		0.627	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	-	0	47	0	C	NM_023935		3175910	-1	tier1	-	no_errors	ENST00000354488	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.999	G	G	3175910	C	G	3175910	3	3	55	1	0	0	0	0	1	0	0	0	4347	680	24	5	364	5	DDRGK1	20	3175910	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09		3175910	59849610	99	13775											
SEC23B	10483	genome.wustl.edu	37	chr20	18541329	18541329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctaactgatgatgttaGcctgcaggtgttcatggacc	9	12	10	10	0	1	2	1	2	0	0	2	3	2	3	3	2	3	3	3	2	2	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:18541329G>T	ENST00000336714.3	+	20	2681	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I	SEC23B_ENST00000377465.1_Missense_Mutation_p.S750I|SEC23B_ENST00000262544.2_Missense_Mutation_p.S750I|SEC23B_ENST00000377475.3_Missense_Mutation_p.S750I	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	750					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GATGATGTTAGCCTGCAGGTG	0.433																																																	0													160	142	148					20																	18541329		2203	4300	6503	SO:0001583	missense	0			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.2249G>T	20.37:g.18541329G>T	ENSP00000338844:p.Ser750Ile		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.S750I	ENST00000336714.3	37	c.2249	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903052	0.92035	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465;ENST00000422877	D;D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77;-3.77	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.98	D	0.99264	1.0891	10	0.87932	D	0	-11.9342	17.7497	0.88430	0.0:0.0:1.0:0.0	.	732;750	B4DJW8;Q15437	.;SC23B_HUMAN	I	750;750;750;750;229	ENSP00000338844:S750I;ENSP00000262544:S750I;ENSP00000366695:S750I;ENSP00000366685:S750I;ENSP00000409882:S229I	ENSP00000262544:S750I	S	+	2	0	SEC23B	18489329	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.569000	0.98170	2.733000	0.93635	0.655000	0.94253	AGC	SEC23B	-	NULL	ENSG00000101310		0.433	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	-	0	70	0	G			18541329	1	tier1	-	no_errors	ENST00000262544	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	18541329	G	T	18541329	3	4	55	1	0	0	0	0	1	0	0	0	14037	971	34	3	2323	3	SEC23B	20	18541329	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	15365419	18541329	44484191	100	13776											
C20orf160	140706	genome.wustl.edu	37	chr20	30602783	30602783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaggagcagcgtgagccGccggcccctgcactcgatgc	6	6	14	15	4	0	1	0	1	0	0	1	3	0	2	4	2	5	3	4	2	1	1			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:30602783G>A	ENST00000300415.8	+	2	120	c.107G>A	c.(106-108)cGc>cAc	p.R36H	CCM2L_ENST00000262659.8_Missense_Mutation_p.R36H			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	36																	AGCGTGAGCCGCCGGCCCCTG	0.632																																																	0													73	73	73					20																	30602783		2203	4300	6503	SO:0001583	missense	0			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.107G>A	20.37:g.30602783G>A	ENSP00000300415:p.Arg36His		Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	NULL	p.R36H	ENST00000300415.8	37	c.107		20	.	.	.	.	.	.	.	.	.	.	G	34	5.307386	0.95629	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.59906	0.23;0.23	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	M	0.80422	2.495	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81328	-0.0982	10	0.87932	D	0	-39.7528	16.7122	0.85388	0.0:0.0:1.0:0.0	.	36	Q9NUG4-2	.	H	36	ENSP00000300415:R36H;ENSP00000262659:R36H	ENSP00000262659:R36H	R	+	2	0	C20orf160	30066444	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.977000	0.93446	2.418000	0.82041	0.655000	0.94253	CGC	CCM2L	-	NULL	ENSG00000101331		0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCM2L	HGNC	protein_coding		-	0	34	0	G	NM_080625		30602783	1	tier1	-	no_errors	ENST00000300415	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	A	A	30602783	G	A	30602783	3	1	55	1	0	0	0	0	1	0	0	0	2100	1087	38	1	113	1	C20orf160	20	30602783	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	12061454	30602783	32422737	101	13777											
CDH22	64405	genome.wustl.edu	37	chr20	44803571	44803571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcgtagaggctccgcagCgccgacatgtcgtaggcttc	8	8	13	12	5	0	1	0	0	0	1	4	2	1	1	2	2	1	5	2	2	3	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:44803571C>T	ENST00000372262.3	-	11	2461	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	CDH22_ENST00000537909.1_Silent_p.A687A	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	687					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCTCCGCAGCGCCGACATGT	0.711																																																	0													19	20	20					20																	44803571		2082	4211	6293	SO:0001819	synonymous_variant	0			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.2061G>A	20.37:g.44803571C>T			B9EGK7|O43205	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A687	ENST00000372262.3	37	c.2061	CCDS13395.1	20																																																																																			CDH22	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000149654		0.711	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	-	0	28	0	C	NM_021248		44803571	-1	tier1	-	no_errors	ENST00000372262	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	44803571	C	T	44803571	2	4	55	1	0	0	0	0	0	0	0	1	3114	755	27	1		1	CDH22	20	44803571	Silent	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	14200788	44803571	18221949	102	13778											
NCOA3	8202	genome.wustl.edu	37	chr20	46279842	46279842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcaacagcaGcagcagcagcagcagcagca	15	0	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:46279842G>A	ENST00000371998.3	+	20	3959	c.3768G>A	c.(3766-3768)caG>caA	p.Q1256Q	NCOA3_ENST00000372004.3_Silent_p.Q1252Q|NCOA3_ENST00000371997.3_Silent_p.Q1247Q|NCOA3_ENST00000341724.6_Silent_p.Q1182Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1256	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcaacagcagcagcagcagc	0.567																																																	0													43	50	48					20																	46279842		2201	4299	6500	SO:0001819	synonymous_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3768G>A	20.37:g.46279842G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1256	ENST00000371998.3	37	c.3768	CCDS13407.1	20																																																																																			NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0	56	0	G	NM_006534		46279842	1			no_errors	ENST00000371998	ensembl	human	known	74_37	silent	5.13	72	4	SNP	0.555	A	A	46279842	G	A	46279842	2	1	55	1	0	0	0	0	0	0	0	1	10269	962	34	3		3	NCOA3	20	46279842	Silent	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09	1476271	46279842	16745678	103	13779											
ZFP64	55734	genome.wustl.edu	37	chr20	50769375	50769375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacgtccgagttcttactCtcactgtactcactgtgctg	6	14	8	13	2	4	0	3	0	2	0	6	1	5	0	1	0	3	3	1	0	2	3			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:50769375C>G	ENST00000216923.4	-	6	1705	c.1356G>C	c.(1354-1356)gaG>gaC	p.E452D	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.E450D|ZFP64_ENST00000346617.4_Missense_Mutation_p.E398D|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTCTTACTCTCACTGTACT	0.587																																																	0													73	53	60					20																	50769375		2203	4300	6503	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1356G>C	20.37:g.50769375C>G	ENSP00000216923:p.Glu452Asp		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E452D	ENST00000216923.4	37	c.1356	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093754	0.01858	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07114	3.23;3.26;3.22	5.09	0.28	0.15682	Zinc finger, C2H2 (1);	0.226724	0.29932	N	0.010830	T	0.03178	0.0093	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.15141	0.012;0.0;0.0	B;B;B	0.15484	0.013;0.0;0.0	T	0.38001	-0.9681	10	0.59425	D	0.04	-21.2558	5.7514	0.18148	0.0923:0.4012:0.369:0.1376	.	398;450;452	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	D	452;398;450;294;605	ENSP00000216923:E452D;ENSP00000344615:E398D;ENSP00000360570:E450D	ENSP00000216923:E452D	E	-	3	2	ZFP64	50202782	0.000000	0.05858	0.027000	0.17364	0.116000	0.19942	-0.448000	0.06820	0.157000	0.19338	0.585000	0.79938	GAG	ZFP64	-	pfscan_Znf_C2H2	ENSG00000020256		0.587	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	-	0	15	0	C	NM_018197		50769375	-1	tier1	-	no_errors	ENST00000216923	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.000	G	G	50769375	C	G	50769375	3	3	55	1	0	0	0	0	1	0	0	0	17700	912	32	5	1884	5	ZFP64	20	50769375	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	4489533	50769375	12256145	104	13780											
ZFP64	55734	genome.wustl.edu	37	chr20	50769717	50769717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctcaggatgctccgaCtggtgcacgcggctgtgctt	5	11	12	13	3	1	0	1	0	1	0	3	2	2	1	1	3	3	4	1	3	0	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:50769717C>A	ENST00000216923.4	-	6	1363	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.Q336H|ZFP64_ENST00000346617.4_Missense_Mutation_p.Q284H|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GATGCTCCGACTGGTGCACGC	0.592																																																	0													117	108	111					20																	50769717		2203	4300	6503	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1014G>T	20.37:g.50769717C>A	ENSP00000216923:p.Gln338His		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q338H	ENST00000216923.4	37	c.1014	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695165	0.68386	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.15017	2.46;2.46;2.46	5.79	5.79	0.91817	Zinc finger, C2H2 (1);	0.000000	0.56097	D	0.000026	T	0.28532	0.0706	N	0.17674	0.51	0.41537	D	0.988491	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.85130	0.997;0.972;0.974	T	0.04333	-1.0959	10	0.87932	D	0	-23.8645	15.5119	0.75789	0.0:0.8624:0.1376:0.0	.	284;336;338	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	H	338;284;336;180;491	ENSP00000216923:Q338H;ENSP00000344615:Q284H;ENSP00000360570:Q336H	ENSP00000216923:Q338H	Q	-	3	2	ZFP64	50203124	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	1.617000	0.36943	2.740000	0.93945	0.609000	0.83330	CAG	ZFP64	-	pfscan_Znf_C2H2	ENSG00000020256		0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	-	0	50	0	C	NM_018197		50769717	-1	tier1	-	no_errors	ENST00000216923	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	A	A	50769717	C	A	50769717	3	1	55	1	0	0	0	0	1	0	0	0	17700	564	20	3	2226	3	ZFP64	20	50769717	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	342	50769717	12255803	105	13781											
SLC17A9	63910	genome.wustl.edu	37	chr20	61591862	61591862	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacttgttgcaggggtttActtccctgccctgaccagcc	5	12	9	15	0	0	1	0	1	0	0	2	1	2	1	5	2	4	3	5	2	1	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr20:61591862A>C	ENST00000370351.4	+	4	535	c.404A>C	c.(403-405)tAc>tCc	p.Y135S	SLC17A9_ENST00000370349.3_Missense_Mutation_p.Y129S|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	135					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCAGGGGTTTACTTCCCTGCC	0.617																																																	0													43	54	50					20																	61591862		2025	4180	6205	SO:0001583	missense	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.404A>C	20.37:g.61591862A>C	ENSP00000359376:p.Tyr135Ser		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y135S	ENST00000370351.4	37	c.404	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733914	0.48939	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.56275	0.47;0.47	4.13	2.99	0.34606	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.061220	0.64402	D	0.000003	T	0.49575	0.1565	N	0.26042	0.785	0.45914	D	0.998756	P;P;P	0.47677	0.899;0.814;0.551	P;P;P	0.57960	0.83;0.735;0.617	T	0.30031	-0.9992	10	0.15499	T	0.54	.	9.8701	0.41168	0.8467:0.0:0.0:0.1533	.	155;135;129	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	S	135;129	ENSP00000359376:Y135S;ENSP00000359374:Y129S	ENSP00000359374:Y129S	Y	+	2	0	SLC17A9	61062307	1.000000	0.71417	0.919000	0.36401	0.456000	0.32438	5.039000	0.64185	0.532000	0.28657	0.402000	0.26972	TAC	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.617	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	-	0	31	0	A	NM_022082		61591862	1	tier1	-	no_errors	ENST00000370351	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.999	C	C	61591862	A	C	61591862	3	2	55	1	0	0	0	0	1	0	0	0	14469	391	14	4	418	4	SLC17A9	20	61591862	Missense_Mutation	SNP	A	TCGA-L5-A4OF-01A-11D-A27G-09	10822145	61591862	1433658	106	13782											
KREMEN1	83999	genome.wustl.edu	37	chr22	29533461	29533461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggggcctcccacatcCacttcagcttccccctattt	5	12	6	18	1	1	0	1	0	0	0	5	0	5	0	6	2	1	1	6	2	1	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chr22:29533461C>T	ENST00000407188.1	+	6	757	c.757C>T	c.(757-759)Cac>Tac	p.H253Y	KREMEN1_ENST00000327813.5_Missense_Mutation_p.H255Y|KREMEN1_ENST00000400338.2_Missense_Mutation_p.H255Y|KREMEN1_ENST00000400335.4_Missense_Mutation_p.H255Y			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	253	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCCCACATCCACTTCAGCTT	0.612																																																	0													70	71	71					22																	29533461		1936	4113	6049	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.757C>T	22.37:g.29533461C>T	ENSP00000385431:p.His253Tyr		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.H255Y	ENST00000407188.1	37	c.763	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686158	0.68157	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.99	4.99	0.66335	CUB (5);	0.402290	0.23112	N	0.051789	T	0.16171	0.0389	L	0.60455	1.87	0.39741	D	0.971745	P;P;B	0.41265	0.662;0.744;0.255	B;B;B	0.35859	0.212;0.093;0.06	T	0.06789	-1.0807	10	0.07175	T	0.84	.	16.1434	0.81544	0.0:1.0:0.0:0.0	.	253;255;255	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	Y	255;255;255;253	ENSP00000383189:H255Y;ENSP00000383192:H255Y;ENSP00000331242:H255Y;ENSP00000385431:H253Y	ENSP00000331242:H255Y	H	+	1	0	KREMEN1	27863461	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.561000	0.60809	2.510000	0.84645	0.591000	0.81541	CAC	KREMEN1	-	pirsf_Kremen,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183762		0.612	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0	30	0	C			29533461	1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	T	T	29533461	C	T	29533461	3	4	55	1	0	0	0	0	1	0	0	0	8469	594	21	3	785	3	KREMEN1	22	29533461	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09		29533461	21771105	107	13783											
GRPR	2925	genome.wustl.edu	37	chrX	16170440	16170440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggcctgttcgccttctGctggctccccaatcatgtca	4	13	10	14	1	3	0	2	0	1	0	5	0	4	0	4	2	1	3	4	2	1	2			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrX:16170440G>T	ENST00000380289.2	+	3	1225	c.827G>T	c.(826-828)tGc>tTc	p.C276F	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA|RP11-431J24.2_ENST00000422438.1_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	276					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TTCGCCTTCTGCTGGCTCCCC	0.542																																																	0													147	124	132					X																	16170440		2203	4300	6503	SO:0001583	missense	0				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"GPCR / Class A : Bombesin receptors"	4609	protein-coding gene	gene with protein product	"bombesin receptor 2"	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.827G>T	X.37:g.16170440G>T	ENSP00000369643:p.Cys276Phe		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.C276F	ENST00000380289.2	37	c.827	CCDS14174.1	X	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311332	0.81358	.	.	ENSG00000126010	ENST00000380289;ENST00000535371	T	0.52295	0.67	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84930	0.0859	10	0.87932	D	0	-23.4744	17.2579	0.87062	0.0:0.0:1.0:0.0	.	276	P30550	GRPR_HUMAN	F	276;65	ENSP00000369643:C276F	ENSP00000369643:C276F	C	+	2	0	GRPR	16080361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.287000	0.76781	0.600000	0.82982	TGC	GRPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000126010		0.542	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	-	0	30	0	G	NM_005314		16170440	1	tier1	-	no_errors	ENST00000380289	ensembl	human	known	74_37	missense	82.76	5	24	SNP	1.000	T	T	16170440	G	T	16170440	3	4	55	1	0	0	0	0	1	0	0	0	6835	1319	46	3	837	3	GRPR	23	16170440	Missense_Mutation	SNP	G	TCGA-L5-A4OF-01A-11D-A27G-09		16170440	139100120	108	13784											
F8	2157	genome.wustl.edu	37	chrX	154158692	154158692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcctttgtatccaccttgCtgattctggcaagaatagca	10	13	8	10	0	1	2	0	1	1	1	3	2	3	2	3	1	2	4	3	1	4	5			TCGA-L5-A4OF-01A-11D-A27G-09	TCGA-L5-A4OF-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f932dd2c-eac3-40b3-9c43-387b8965d65d	5c706022-8e43-463a-b161-f6687b4ba88a	g.chrX:154158692C>G	ENST00000360256.4	-	14	3573	c.3373G>C	c.(3373-3375)Gca>Cca	p.A1125P		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1125	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCACCTTGCTGATTCTGGC	0.438																																																	0													64	63	64					X																	154158692		2203	4299	6502	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3373G>C	X.37:g.154158692C>G	ENSP00000353393:p.Ala1125Pro		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.A1125P	ENST00000360256.4	37	c.3373	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	c	1.341	-0.594119	0.03771	.	.	ENSG00000185010	ENST00000360256	D	0.99194	-5.54	5.37	2.42	0.29668	.	0.920401	0.09151	N	0.841579	D	0.95987	0.8693	L	0.31294	0.92	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	D	0.90557	0.4513	10	0.35671	T	0.21	-0.4631	3.0077	0.06034	0.1809:0.544:0.1717:0.1034	.	1125	P00451	FA8_HUMAN	P	1125	ENSP00000353393:A1125P	ENSP00000353393:A1125P	A	-	1	0	F8	153811886	0.001000	0.12720	0.045000	0.18777	0.048000	0.14542	-0.236000	0.09003	0.073000	0.16731	0.597000	0.82753	GCA	F8	-	NULL	ENSG00000185010		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-	0	24	0	C			154158692	-1	tier1	-	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	65.22	8	15	SNP	0.003	G	G	154158692	C	G	154158692	3	3	55	1	0	0	0	0	1	0	0	0	5366	797	28	5	3762	5	F8	23	154158692	Missense_Mutation	SNP	C	TCGA-L5-A4OF-01A-11D-A27G-09	137988252	154158692	1111868	109	13785											
CTNNBIP1	56998	genome.wustl.edu	37	chr1	9910786	9910786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgcagctactgcctcCggtcttccgtctccgacctg	3	12	10	16	3	2	0	0	0	2	0	5	1	4	0	5	2	4	3	5	2	1	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:9910786C>T	ENST00000377263.1	-	6	547	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	RP11-84A14.5_ENST00000454104.1_RNA|CTNNBIP1_ENST00000537447.1_Missense_Mutation_p.R79Q|CTNNBIP1_ENST00000377256.1_Missense_Mutation_p.R79Q|CTNNBIP1_ENST00000400904.3_Missense_Mutation_p.R79Q|CTNNBIP1_ENST00000377258.1_Missense_Mutation_p.R79Q	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	79					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTACTGCCTCCGGTCTTCCGT	0.612																																																	0													139	126	130					1																	9910786		2203	4300	6503	SO:0001583	missense	0			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4"	607758	"catenin, beta-interacting protein 1"			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.236G>A	1.37:g.9910786C>T	ENSP00000366474:p.Arg79Gln		Q5T4V2	Missense_Mutation	SNP	pfam_ICAT,superfamily_ICAT	p.R79Q	ENST00000377263.1	37	c.236	CCDS106.1	1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.519785	0.64634	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.51	4.6	0.57074	.	0.000000	0.85682	U	0.000000	T	0.43919	0.1269	.	.	.	0.46798	D	0.999204	B	0.09022	0.002	B	0.01281	0.0	T	0.27806	-1.0063	7	.	.	.	-16.5617	13.07	0.59055	0.0:0.925:0.0:0.075	.	79	Q9NSA3	CNBP1_HUMAN	Q	79	.	.	R	-	2	0	CTNNBIP1	9833373	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	4.035000	0.57297	1.463000	0.47967	0.650000	0.86243	CGG	CTNNBIP1	-	pfam_ICAT	ENSG00000178585		0.612	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	-	0	49	0	C	NM_020248		9910786	-1	tier1	-	no_errors	ENST00000377256	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	9910786	C	T	9910786	3	4	56	1	0	0	0	0	1	0	0	0	4026	652	23	1	13	1	CTNNBIP1	1	9910786	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		9910786	239339835	1	13786											
PRAMEF14	729528	genome.wustl.edu	37	chr1	13668960	13668960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgagccacaggaagggCagggggtgggaccaatgaag	12	4	19	6	0	0	3	0	3	0	0	0	5	0	5	2	5	1	1	2	5	3	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:13668960C>A	ENST00000344998.3	-	4	1408	c.1226G>T	c.(1225-1227)tGc>tTc	p.C409F	PRAMEF14_ENST00000602491.1_5'UTR|PRAMEF14_ENST00000334600.6_Missense_Mutation_p.C457F			Q5SWL7	PRA14_HUMAN	PRAME family member 14	409					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGGAAGGGCAGGGGGTGGG	0.562																																																	0													4	5	5					1																	13668960		1601	3626	5227	SO:0001583	missense	0					1p36.21	2014-04-01			ENSG00000204481	ENSG00000204481		"-"	13576	other	unknown							Standard	NM_001024661		Approved	OTTHUMG00000007916		Q5SWL7	OTTHUMG00000007916	ENST00000344998.3:c.1226G>T	1.37:g.13668960C>A	ENSP00000341333:p.Cys409Phe			Missense_Mutation	SNP	NULL	p.C409F	ENST00000344998.3	37	c.1226		1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474682	0.26511	.	.	ENSG00000204481	ENST00000344998;ENST00000334600	T;T	0.46819	0.86;0.86	1.6	1.6	0.23607	.	0.414698	0.24325	N	0.039507	T	0.65575	0.2704	M	0.86097	2.795	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51841	-0.8654	10	0.66056	D	0.02	.	6.6871	0.23152	0.0:1.0:0.0:0.0	.	409	Q5SWL7	PRA14_HUMAN	F	409;457	ENSP00000341333:C409F;ENSP00000334410:C457F	ENSP00000334410:C457F	C	-	2	0	PRAMEF14	13541547	0.159000	0.22864	0.051000	0.19133	0.128000	0.20619	1.595000	0.36708	1.195000	0.43115	0.162000	0.16502	TGC	PRAMEF14	-	NULL	ENSG00000204481		0.562	PRAMEF14-201	KNOWN	basic|appris_candidate	protein_coding	PRAMEF14	HGNC	protein_coding		-	0	32	0	C	NM_001099854		13668960	-1	tier1	-	no_errors	ENST00000344998	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.062	A	A	13668960	C	A	13668960	3	1	56	1	0	0	0	0	1	0	0	0	12472	710	25	3	1351	3	PRAMEF14	1	13668960	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	3758174	13668960	235581661	2	13787											
FBLIM1	54751	genome.wustl.edu	37	chr1	16101256	16101256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagagctttgccctgggcagCcagaacgaggtgtactgcct	8	8	14	11	1	0	2	0	0	0	2	0	4	0	2	3	2	6	3	3	2	2	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:16101256C>T	ENST00000375766.3	+	7	1495	c.855C>T	c.(853-855)agC>agT	p.S285S	FBLIM1_ENST00000400773.1_Silent_p.S188S|FBLIM1_ENST00000441801.2_Silent_p.S285S|FBLIM1_ENST00000375771.1_Silent_p.S285S|FBLIM1_ENST00000332305.5_Silent_p.S188S	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	285	FERMT2-binding.|LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCCTGGGCAGCCAGAACGAGG	0.627																																																	0													125	117	120					1																	16101256		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.855C>T	1.37:g.16101256C>T			B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S285	ENST00000375766.3	37	c.855	CCDS163.1	1																																																																																			FBLIM1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000162458		0.627	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FBLIM1	HGNC	protein_coding	OTTHUMT00000008511.3	-	0	83	0	C	NM_001024215		16101256	1	tier1	-	no_errors	ENST00000441801	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.876	T	T	16101256	C	T	16101256	2	4	56	1	0	0	0	0	0	0	0	1	5719	738	26	3		3	FBLIM1	1	16101256	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	2432296	16101256	233149365	3	13788											
C1orf38	9473	genome.wustl.edu	37	chr1	28208692	28208692	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggctccttgcaaaaagGccagaggctttgcgtctatg	8	10	14	9	1	1	1	0	0	1	1	2	1	2	1	2	4	2	3	2	4	3	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:28208692G>C	ENST00000373921.3	+	4	861	c.857G>C	c.(856-858)gGc>gCc	p.G286A	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373925.1_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	286	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TTGCAAAAAGGCCAGAGGCTT	0.657																																																	0													30	32	31					1																	28208692		1942	4135	6077	SO:0001583	missense	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.857G>C	1.37:g.28208692G>C	ENSP00000363031:p.Gly286Ala		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	NULL	p.G286A	ENST00000373921.3	37	c.857	CCDS41290.1	1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788379	0.49997	.	.	ENSG00000130775	ENST00000442118;ENST00000373921	T;T	0.18338	2.22;2.22	5.18	5.18	0.71444	.	0.150537	0.64402	D	0.000016	T	0.46698	0.1406	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.49762	-0.8905	10	0.72032	D	0.01	-30.9927	18.6748	0.91525	0.0:0.0:1.0:0.0	.	286	Q5TEJ8	THMS2_HUMAN	A	149;286	ENSP00000413725:G149A;ENSP00000363031:G286A	ENSP00000363031:G286A	G	+	2	0	C1orf38	28081279	1.000000	0.71417	1.000000	0.80357	0.257000	0.26127	4.620000	0.61226	2.586000	0.87340	0.491000	0.48974	GGC	THEMIS2	-	NULL	ENSG00000130775		0.657	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	-	0	64	0	G	NM_004848		28208692	1	tier1	-	no_errors	ENST00000373921	ensembl	human	known	74_37	missense	27.27	32	12	SNP	1.000	C	C	28208692	G	C	28208692	3	2	56	1	0	0	0	0	1	0	0	0	2046	1203	42	5	871	5	C1orf38	1	28208692	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	12107436	28208692	221041929	4	13789											
XKR8	55113	genome.wustl.edu	37	chr1	28290117	28290117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatcagcatgctgcggCtcttcgagaccttcttggag	7	11	12	11	2	3	1	1	0	2	1	4	4	3	3	1	3	3	3	1	3	0	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:28290117C>T	ENST00000373884.5	+	2	1011	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	135					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CATGCTGCGGCTCTTCGAGAC	0.632																																																	0													35	31	32					1																	28290117		2203	4300	6503	SO:0001583	missense	0			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.403C>T	1.37:g.28290117C>T	ENSP00000362991:p.Leu135Phe			Missense_Mutation	SNP	pfam_Transport_prot_XK	p.L135F	ENST00000373884.5	37	c.403	CCDS315.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037361	0.93630	.	.	ENSG00000158156	ENST00000373884	T	0.71461	-0.57	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	D	0.85026	0.5603	M	0.91406	3.205	0.80722	D	1	D	0.56521	0.976	P	0.55055	0.767	D	0.87185	0.2230	10	0.48119	T	0.1	.	19.2521	0.93929	0.0:1.0:0.0:0.0	.	135	Q9H6D3	XKR8_HUMAN	F	135	ENSP00000362991:L135F	ENSP00000362991:L135F	L	+	1	0	XKR8	28162704	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.049000	0.71053	2.557000	0.86248	0.655000	0.94253	CTC	XKR8	-	pfam_Transport_prot_XK	ENSG00000158156		0.632	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	-	0	41	0	C	NM_018053		28290117	1	tier1	-	no_errors	ENST00000373884	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	T	T	28290117	C	T	28290117	3	4	56	1	0	0	0	0	1	0	0	0	17486	797	28	3	409	3	XKR8	1	28290117	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	81425	28290117	220960504	5	13790											
LRP8	7804	genome.wustl.edu	37	chr1	53792603	53792604	+	Frame_Shift_Del	DEL	AG	AG	-																															tcctcgtcgcatctccacacAgaggggatgcagcgctcgtt																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:53792603_53792604delAG	ENST00000306052.6	-	2	286_287	c.185_186delCT	c.(184-186)tctfs	p.S62fs	LRP8_ENST00000354412.3_Frame_Shift_Del_p.S62fs|LRP8_ENST00000347547.2_Frame_Shift_Del_p.S62fs|LRP8_ENST00000465675.1_5'UTR|RP4-784A16.5_ENST00000445039.2_lincRNA|LRP8_ENST00000371454.2_Frame_Shift_Del_p.S62fs	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	62	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ATCTCCACACAGAGGGGATGCA	0.639																																																	0																																										SO:0001589	frameshift_variant	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"Low density lipoprotein receptors"	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.185_186delCT	1.37:g.53792605_53792606delAG	ENSP00000303634:p.Ser62fs		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.S62fs	ENST00000306052.6	37	c.186_185	CCDS578.1	1																																																																																			LRP8	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000157193		0.639	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1		0	50	0	AG	NM_004631		53792604	-1	tier1		no_errors	ENST00000306052	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	0.013:0.038	-	-	53792604	AG	-	53792603	7	5	56	1	0	1	0	1	0	0	0	0	8998	175	7	0	2777	0	LRP8	1	53792603	Frame_Shift_Del	DEL	AG	TCGA-L5-A4OG-01A-11D-A27G-09	25502486	53792603	195458018	6	13791											
IFI16	3428	genome.wustl.edu	37	chr1	158986435	158986435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtccacagccatgggccGttccccatctcccaagacct	8	8	7	18	1	1	1	0	0	1	1	4	1	3	1	7	1	1	1	7	1	1	1	rs138795047		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:158986435G>A	ENST00000295809.7	+	4	749	c.494G>A	c.(493-495)cGt>cAt	p.R165H	IFI16_ENST00000359709.3_Intron|IFI16_ENST00000368132.3_Missense_Mutation_p.R165H|IFI16_ENST00000430894.2_Intron|IFI16_ENST00000448393.2_Missense_Mutation_p.R165H|IFI16_ENST00000340979.6_Missense_Mutation_p.R165H|IFI16_ENST00000368131.4_Missense_Mutation_p.R165H			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	165					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GCCATGGGCCGTTCCCCATCT	0.527																																																	0								G	,HIS/ARG	0,4406		0,0,2203	127	112	117		,494	-2.7	0	1	dbSNP_134	117	1,8599		0,1,4299	no	intron,missense	IFI16	NM_001206567.1,NM_005531.2	,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,165/730	158986435	1,13005	2203	4300	6503	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.494G>A	1.37:g.158986435G>A	ENSP00000295809:p.Arg165His		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.R165H	ENST00000295809.7	37	c.494		1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.891840	0.00060	0.0	1.16E-4	ENSG00000163565	ENST00000359709;ENST00000447473;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132	T;T;T;T;T	0.17528	2.27;3.62;3.63;3.63;3.63	1.34	-2.67	0.06059	.	.	.	.	.	T	0.00784	0.0026	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25187	-1.0139	9	0.10636	T	0.68	.	3.2039	0.06658	0.2174:0.0:0.3112:0.4714	.	165;165	Q16666-2;Q16666	.;IF16_HUMAN	H	165	ENSP00000407052:R165H;ENSP00000295809:R165H;ENSP00000342741:R165H;ENSP00000357113:R165H;ENSP00000357114:R165H	ENSP00000295809:R165H	R	+	2	0	IFI16	157253059	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-8.449000	0.00020	-3.533000	0.00145	-2.239000	0.00288	CGT	IFI16	-	NULL	ENSG00000163565		0.527	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0	58	0	G	NM_005531		158986435	1	tier1	rs138795047	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	22.99	67	20	SNP	0.000	A	A	158986435	G	A	158986435	3	1	56	1	0	0	0	0	1	0	0	0	7538	1145	40	1	504	1	IFI16	1	158986435	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	105193832	158986435	90264186	7	13792											
FAM5C	339479	genome.wustl.edu	37	chr1	190067650	190067650	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcaggggtaggtccaacTtagtccgctcccagtctgga	8	9	12	12	1	1	0	0	0	1	0	4	1	4	1	3	4	2	3	3	4	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:190067650T>G	ENST00000367462.3	-	8	2030	c.1799A>C	c.(1798-1800)aAg>aCg	p.K600T	BRINP3_ENST00000534846.1_Missense_Mutation_p.K498T	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	600					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TAGGTCCAACTTAGTCCGCTC	0.473																																																	0													206	213	211					1																	190067650		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1799A>C	1.37:g.190067650T>G	ENSP00000356432:p.Lys600Thr		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.K600T	ENST00000367462.3	37	c.1799	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	7.503	0.653099	0.14580	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18657	2.46;2.2	5.61	1.91	0.25777	.	0.157466	0.56097	D	0.000035	T	0.14184	0.0343	L	0.48642	1.525	0.48696	D	0.999692	B;P	0.34522	0.081;0.455	B;B	0.29440	0.065;0.102	T	0.12477	-1.0546	10	0.20046	T	0.44	.	7.7758	0.29037	0.0:0.2751:0.0:0.7249	.	498;600	B7Z260;Q76B58	.;FAM5C_HUMAN	T	600;498	ENSP00000356432:K600T;ENSP00000438022:K498T	ENSP00000356432:K600T	K	-	2	0	FAM5C	188334273	0.998000	0.40836	0.900000	0.35374	0.995000	0.86356	2.788000	0.47806	0.072000	0.16694	0.477000	0.44152	AAG	BRINP3	-	NULL	ENSG00000162670		0.473	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0	46	0	T	NM_199051		190067650	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	35.29	33	18	SNP	1.000	G	G	190067650	T	G	190067650	3	3	56	1	0	0	0	0	1	0	0	0	5616	1609	56	4	505	4	FAM5C	1	190067650	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	31081215	190067650	59182971	8	13793											
ASPM	259266	genome.wustl.edu	37	chr1	197060162	197060162	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttcttgtaatcttgctcGaaaccatctctgtttaaaac	10	17	4	10	1	3	0	0	0	3	0	5	1	3	0	1	0	3	3	1	0	4	7	rs587783292		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:197060162G>A	ENST00000367409.4	-	23	9710	c.9454C>T	c.(9454-9456)Cga>Tga	p.R3152*	ASPM_ENST00000367408.1_Nonsense_Mutation_p.R817*|ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1567*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3152					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCTTGCTCGAAACCATCTC	0.289																																																	0													68	69	69					1																	197060162		2202	4299	6501	SO:0001587	stop_gained	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9454C>T	1.37:g.197060162G>A	ENSP00000356379:p.Arg3152*		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R3152*	ENST00000367409.4	37	c.9454	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	51	17.640436	0.99890	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	.	.	.	4.88	3.94	0.45596	.	0.168402	0.36740	N	0.002439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6061	0.28103	0.0766:0.0:0.6288:0.2946	.	.	.	.	X	3152;1567;817;1138	.	ENSP00000294732:R1567X	R	-	1	2	ASPM	195326785	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.552000	0.36244	1.141000	0.42275	0.313000	0.20887	CGA	ASPM	-	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS	ENSG00000066279		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1		0	40	0	G	NM_018136		197060162	-1			no_errors	ENST00000367409	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	A	A	197060162	G	A	197060162	4	1	56	1	0	0	0	0	0	1	0	0	1057	1066	37	1	1003	1	ASPM	1	197060162	Nonsense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	6992512	197060162	52190459	9	13794											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204429718	204429718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaccttctgctccatcAgctgtagccgaatgtcaatg	10	10	8	13	1	3	0	2	0	1	0	4	1	4	0	3	0	4	4	3	0	4	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:204429718A>G	ENST00000367187.3	-	7	1938	c.1382T>C	c.(1381-1383)cTg>cCg	p.L461P	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L461P	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	461	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGCTCCATCAGCTGTAGCCG	0.552																																																	0													163	129	141					1																	204429718		2203	4300	6503	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1382T>C	1.37:g.204429718A>G	ENSP00000356155:p.Leu461Pro		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L461P	ENST00000367187.3	37	c.1382	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640487	0.87859	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.73681	-0.65;-0.77	5.81	5.81	0.92471	Phosphoinositide 3-kinase, ras-binding (2);	0.233836	0.35970	N	0.002872	D	0.83972	0.5370	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.996;0.999	D	0.85559	0.1226	10	0.87932	D	0	.	13.6844	0.62506	1.0:0.0:0.0:0.0	.	461;461	F5GWN5;O00750	.;P3C2B_HUMAN	P	461	ENSP00000356155:L461P;ENSP00000400561:L461P	ENSP00000356155:L461P	L	-	2	0	PIK3C2B	202696341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.042000	0.89430	2.216000	0.71823	0.533000	0.62120	CTG	PIK3C2B	-	pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom	ENSG00000133056		0.552	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0	46	0	A	NM_002646		204429718	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	G	G	204429718	A	G	204429718	3	3	56	1	0	0	0	0	1	0	0	0	11949	188	7	4	3634	4	PIK3C2B	1	204429718	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	7369556	204429718	44820903	10	13795											
CR2	1380	genome.wustl.edu	37	chr1	207639910	207639910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctatcctaaatggccGgattagttattattctaccc	9	14	6	12	2	1	0	0	0	1	0	3	1	3	1	5	2	1	1	5	2	7	7	rs368072577		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:207639910G>A	ENST00000367058.3	+	2	287	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	CR2_ENST00000458541.2_Missense_Mutation_p.R33Q|CR2_ENST00000367057.3_Missense_Mutation_p.R33Q|CR2_ENST00000367059.3_Missense_Mutation_p.R33Q	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	33	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAAATGGCCGGATTAGTTAT	0.413																																																	0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	124	129	128		98,98	2.2	0	1		128	0,8600		0,0,4300	no	missense,missense	CR2	NM_001006658.2,NM_001877.4	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	33/1093,33/1034	207639910	1,13005	2203	4300	6503	SO:0001583	missense	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.98G>A	1.37:g.207639910G>A	ENSP00000356025:p.Arg33Gln		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R33Q	ENST00000367058.3	37	c.98	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947560	0.53186	2.27E-4	0.0	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.09	2.21	0.28008	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68081	0.2962	L	0.53671	1.685	0.09310	N	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.65443	0.906;0.928;0.935	T	0.54629	-0.8265	9	0.52906	T	0.07	.	4.3542	0.11170	0.1849:0.0:0.6356:0.1795	.	33;33;33	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	Q	33	ENSP00000356025:R33Q;ENSP00000356024:R33Q;ENSP00000356026:R33Q;ENSP00000404222:R33Q	ENSP00000356024:R33Q	R	+	2	0	CR2	205706533	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	1.222000	0.32515	0.329000	0.23460	-0.169000	0.13324	CGG	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.413	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	-	0	88	0	G	NM_001877		207639910	1	tier1	-	no_errors	ENST00000367057	ensembl	human	known	74_37	missense	14.49	59	10	SNP	0.000	A	A	207639910	G	A	207639910	3	1	56	1	0	0	0	0	1	0	0	0	3849	1116	39	1	104	1	CR2	1	207639910	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	3210192	207639910	41610711	11	13796											
USH2A	7399	genome.wustl.edu	37	chr1	216497030	216497030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gacattgccacgggaatatgGagtaaaactgttaatgaaag	16	9	11	5	1	0	1	0	1	0	0	0	4	0	3	1	2	2	2	1	2	6	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:216497030G>C	ENST00000307340.3	-	8	1722	c.1336C>G	c.(1336-1338)Cca>Gca	p.P446A	USH2A_ENST00000366943.2_Missense_Mutation_p.P446A|USH2A_ENST00000366942.3_Missense_Mutation_p.P446A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	446	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGGGAATATGGAGTAAAACTG	0.343										HNSCC(13;0.011)																																							0													96	97	96					1																	216497030		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1336C>G	1.37:g.216497030G>C	ENSP00000305941:p.Pro446Ala		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P446A	ENST00000307340.3	37	c.1336	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290848	0.80914	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.26518	2.03;2.02;1.73	5.4	5.4	0.78164	Laminin, N-terminal (3);	0.000000	0.44688	D	0.000423	T	0.62282	0.2415	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.97110	0.904;1.0	T	0.71705	-0.4512	10	0.87932	D	0	.	19.1691	0.93570	0.0:0.0:1.0:0.0	.	446;446	O75445-2;O75445	.;USH2A_HUMAN	A	446	ENSP00000305941:P446A;ENSP00000355910:P446A;ENSP00000355909:P446A	ENSP00000305941:P446A	P	-	1	0	USH2A	214563653	1.000000	0.71417	0.899000	0.35326	0.924000	0.55760	7.129000	0.77225	2.508000	0.84585	0.655000	0.94253	CCA	USH2A	-	smart_Laminin_N,pfscan_Laminin_N	ENSG00000042781		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	12	0	G	NM_007123		216497030	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	C	C	216497030	G	C	216497030	3	2	56	1	0	0	0	0	1	0	0	0	17085	1174	41	5	14546	5	USH2A	1	216497030	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	8857120	216497030	32753591	12	13797											
CABC1	56997	genome.wustl.edu	37	chr1	227173017	227173017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaatccatagagatgaaGttcctcaccggctacgaggt	12	8	11	10	3	1	2	1	1	0	1	3	5	3	2	3	2	1	2	3	2	4	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:227173017G>C	ENST00000366779.1	+	19	4406	c.1635G>C	c.(1633-1635)aaG>aaC	p.K545N	ADCK3_ENST00000458507.2_Missense_Mutation_p.K266N|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Missense_Mutation_p.K219N|ADCK3_ENST00000366778.1_Missense_Mutation_p.K493N|ADCK3_ENST00000366777.3_Missense_Mutation_p.K545N			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	545					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TAGAGATGAAGTTCCTCACCG	0.622																																																	0													117	110	112					1																	227173017		2203	4300	6503	SO:0001583	missense	0			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"coenzyme Q8 homolog (yeast)"	606980	"chaperone-ABC1 (activity of bc1 complex, S.pombe)-like", "chaperone, ABC1 activity of bc1 complex like (S. pombe)", "chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1635G>C	1.37:g.227173017G>C	ENSP00000355741:p.Lys545Asn		Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.K545N	ENST00000366779.1	37	c.1635	CCDS1557.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047243	0.75846	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.6	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	L	0.61218	1.895	0.58432	D	0.999995	B;P	0.42375	0.251;0.778	B;B	0.40864	0.097;0.342	T	0.52975	-0.8503	10	0.62326	D	0.03	-42.8978	5.3449	0.16004	0.2752:0.0:0.7247:0.0	.	219;545	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	N	545;493;545;470;266;390;496;219	ENSP00000355741:K545N;ENSP00000355740:K493N;ENSP00000355739:K545N;ENSP00000355738:K470N;ENSP00000403704:K266N;ENSP00000355737:K390N;ENSP00000404550:K219N	ENSP00000355737:K390N	K	+	3	2	ADCK3	225239640	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.420000	0.52735	2.625000	0.88918	0.561000	0.74099	AAG	ADCK3	-	NULL	ENSG00000163050		0.622	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	-	0	36	0	G	NM_020247		227173017	1	tier1	-	no_errors	ENST00000366777	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	C	C	227173017	G	C	227173017	3	2	56	1	0	0	0	0	1	0	0	0	2534	1020	36	5	1685	5	CABC1	1	227173017	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	10675987	227173017	22077604	13	13798											
URB2	9816	genome.wustl.edu	37	chr1	229773808	229773808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacaggacgctgctctccCatgttgccctctaccagggt	6	9	11	15	2	2	0	0	0	2	0	3	2	2	1	3	2	3	3	3	2	1	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:229773808C>T	ENST00000258243.2	+	4	3584	c.3448C>T	c.(3448-3450)Cat>Tat	p.H1150Y		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1150						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCTGCTCTCCCATGTTGCCCT	0.562																																																	0													110	112	111					1																	229773808		2203	4300	6503	SO:0001583	missense	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3448C>T	1.37:g.229773808C>T	ENSP00000258243:p.His1150Tyr		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.H1150Y	ENST00000258243.2	37	c.3448	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276548	0.40294	.	.	ENSG00000135763	ENST00000258243	T	0.34072	1.38	5.57	3.68	0.42216	.	0.382752	0.30762	N	0.008932	T	0.23330	0.0564	L	0.27053	0.805	0.09310	N	1	P	0.52842	0.956	B	0.41619	0.361	T	0.06991	-1.0796	9	.	.	.	-0.2674	8.6957	0.34293	0.2699:0.6612:0.0:0.0689	.	1150	Q14146	URB2_HUMAN	Y	1150	ENSP00000258243:H1150Y	.	H	+	1	0	URB2	227840431	0.005000	0.15991	0.001000	0.08648	0.016000	0.09150	1.065000	0.30592	0.828000	0.34709	0.585000	0.79938	CAT	URB2	-	NULL	ENSG00000135763		0.562	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	-	0	38	0	C	NM_014777		229773808	1	tier1	-	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.015	T	T	229773808	C	T	229773808	3	4	56	1	0	0	0	0	1	0	0	0	17074	594	21	3	3458	3	URB2	1	229773808	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	2600791	229773808	19476813	14	13799											
RYR2	6262	genome.wustl.edu	37	chr1	237890425	237890425	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaaaaaggctgtatggcaTaaactactgtccaagcagag	15	9	9	8	0	1	1	0	0	1	1	2	1	2	1	1	2	3	4	1	2	8	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr1:237890425T>G	ENST00000366574.2	+	76	11081	c.10764T>G	c.(10762-10764)caT>caG	p.H3588Q	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.H3572Q|RYR2_ENST00000360064.6_Missense_Mutation_p.H3586Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3588	Interaction with CALM.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTATGGCATAAACTACTGT	0.388																																																	0													85	83	84					1																	237890425		1845	4083	5928	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10764T>G	1.37:g.237890425T>G	ENSP00000355533:p.His3588Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.H3586Q	ENST00000366574.2	37	c.10758	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.514027	0.27123	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96491	-4.03;-4.0;-4.03	4.98	0.757	0.18427	.	0.000000	0.64402	U	0.000013	D	0.93481	0.7920	M	0.62154	1.92	0.80722	D	1	B	0.33103	0.397	B	0.34180	0.177	D	0.88567	0.3127	10	0.49607	T	0.09	-16.6703	7.6571	0.28381	0.0:0.4033:0.0:0.5967	.	3588	Q92736	RYR2_HUMAN	Q	3588;3586;3572;543	ENSP00000355533:H3588Q;ENSP00000353174:H3586Q;ENSP00000443798:H3572Q	ENSP00000353174:H3586Q	H	+	3	2	RYR2	235957048	0.062000	0.20869	0.975000	0.42487	0.501000	0.33797	-0.591000	0.05753	0.177000	0.19895	-0.263000	0.10527	CAT	RYR2	-	NULL	ENSG00000198626		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	52	0	T	NM_001035		237890425	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.995	G	G	237890425	T	G	237890425	3	3	56	1	0	0	0	0	1	0	0	0	13814	1403	49	4	11066	4	RYR2	1	237890425	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	8116617	237890425	11360196	15	13800											
WDR43	23160	genome.wustl.edu	37	chr2	29140791	29140791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacaaagaaaagagtgCagtgatgtcatttacagtta	19	9	9	4	0	1	4	1	1	0	3	1	4	1	4	0	0	3	2	0	0	7	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:29140791C>T	ENST00000407426.3	+	6	835	c.779C>T	c.(778-780)gCa>gTa	p.A260V		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	260						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GAAAAGAGTGCAGTGATGTCA	0.353																																																	0													68	64	66					2																	29140791		1845	4111	5956	SO:0001583	missense	0			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.779C>T	2.37:g.29140791C>T	ENSP00000384302:p.Ala260Val		Q15395|Q92577	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A260V	ENST00000407426.3	37	c.779	CCDS46251.1	2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954117	0.92726	.	.	ENSG00000163811	ENST00000407426;ENST00000296126	T;T	0.69561	-0.06;-0.41	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.055204	0.85682	D	0.000000	T	0.74809	0.3765	L	0.56769	1.78	0.52501	D	0.999956	D	0.65815	0.995	P	0.56398	0.797	T	0.68884	-0.5291	10	0.17832	T	0.49	-20.8462	19.586	0.95490	0.0:1.0:0.0:0.0	.	260	Q15061	WDR43_HUMAN	V	260;79	ENSP00000384302:A260V;ENSP00000296126:A79V	ENSP00000296126:A79V	A	+	2	0	WDR43	28994295	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	6.823000	0.75282	2.621000	0.88768	0.650000	0.86243	GCA	WDR43	-	superfamily_WD40_repeat_dom	ENSG00000163811		0.353	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	-	0	104	0	C	XM_087089		29140791	1	tier1	-	no_errors	ENST00000407426	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	29140791	C	T	29140791	3	4	56	1	0	0	0	0	1	0	0	0	17344	710	25	3	801	3	WDR43	2	29140791	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		29140791	214058582	16	13801											
FAM179A	165186	genome.wustl.edu	37	chr2	29240131	29240131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagggcaggagctcactTcccagtgcctgggctcccag	7	6	14	14	0	1	0	1	0	0	0	3	2	3	2	3	4	2	3	3	4	0	1	rs386644311|rs201148338	byFrequency	TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:29240131T>C	ENST00000379558.4	+	9	1507	c.1156T>C	c.(1156-1158)Tcc>Ccc	p.S386P	FAM179A_ENST00000403861.2_Missense_Mutation_p.S386P|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	386										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGCTCACTTCCCAGTGCCT	0.597													C|||	47	0.00938498	0.0348	0.0014	5008	,	,		13919	0		0	False		,,,				2504	0																0													52	56	55					2																	29240131		1955	4148	6103	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1156T>C	2.37:g.29240131T>C	ENSP00000368876:p.Ser386Pro		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.S386P	ENST00000379558.4	37	c.1156	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	9.595	1.127105	0.20959	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.10763	3.01;2.84	4.84	-2.12	0.07165	.	.	.	.	.	T	0.05273	0.0140	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.40590	-0.9555	9	0.28530	T	0.3	.	2.6591	0.05021	0.1068:0.2149:0.118:0.5603	.	386;386	F8W8E4;Q6ZUX3	.;F179A_HUMAN	P	386	ENSP00000368876:S386P;ENSP00000384699:S386P	ENSP00000368876:S386P	S	+	1	0	FAM179A	29093635	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.876000	0.04201	-0.897000	0.03910	-0.119000	0.15052	TCC	FAM179A	-	NULL	ENSG00000189350		0.597	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0	43	0	T	NM_199280		29240131	1	tier1	rs201148338	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.001	C	C	29240131	T	C	29240131	3	2	56	1	0	0	0	0	1	0	0	0	5524	1783	62	4	1186	4	FAM179A	2	29240131	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	99340	29240131	213959242	17	13802											
HEATR5B	54497	genome.wustl.edu	37	chr2	37276984	37276984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttttgttttcagctaaGccctacattaaaaaaaaaaa	17	13	4	7	0	1	0	1	0	0	0	1	0	1	0	1	0	4	3	1	0	9	8			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:37276984G>A	ENST00000233099.5	-	18	2603	c.2508C>T	c.(2506-2508)ggC>ggT	p.G836G	HEATR5B_ENST00000354531.2_Silent_p.G836G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	836						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTCAGCTAAGCCCTACATTa	0.378																																																	0													49	41	44					2																	37276984		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2508C>T	2.37:g.37276984G>A			B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	superfamily_ARM-type_fold	p.G836	ENST00000233099.5	37	c.2508	CCDS33181.1	2																																																																																			HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.378	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0	25	0	G	NM_019024		37276984	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.993	A	A	37276984	G	A	37276984	2	1	56	1	0	0	0	0	0	0	0	1	7059	958	34	3		3	HEATR5B	2	37276984	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	8036853	37276984	205922389	18	13803											
ZNF638	27332	genome.wustl.edu	37	chr2	71576566	71576566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacttagtcgctatcCtgatgaacaactaactcctg	14	10	7	10	1	0	4	0	2	0	2	3	4	2	4	2	0	4	1	2	0	7	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:71576566C>A	ENST00000409544.1	+	2	1112	c.482C>A	c.(481-483)cCt>cAt	p.P161H	ZNF638_ENST00000355812.3_Missense_Mutation_p.P161H|ZNF638_ENST00000377802.2_Missense_Mutation_p.P161H|ZNF638_ENST00000264447.4_Missense_Mutation_p.P161H|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	161					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGTCGCTATCCTGATGAACAA	0.393																																																	0													65	65	65					2																	71576566		2203	4300	6503	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.482C>A	2.37:g.71576566C>A	ENSP00000386433:p.Pro161His		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.P161H	ENST00000409544.1	37	c.482	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569187	0.65765	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544;ENST00000437658	D;D;D;D;T;T;T	0.93859	-2.71;-3.3;-2.3;-2.8;-1.28;-1.28;-1.12	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.999;0.998;0.998	D	0.95186	0.8304	10	0.87932	D	0	-12.7388	17.365	0.87360	0.0:1.0:0.0:0.0	.	267;161;161;161;161	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	H	161;267;161;161;161;161;161	ENSP00000386669:P161H;ENSP00000438189:P267H;ENSP00000348066:P161H;ENSP00000367033:P161H;ENSP00000264447:P161H;ENSP00000386433:P161H;ENSP00000388164:P161H	ENSP00000264447:P161H	P	+	2	0	ZNF638	71430074	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.226000	0.78060	2.713000	0.92767	0.655000	0.94253	CCT	ZNF638	-	NULL	ENSG00000075292		0.393	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1		0	21	0	C	NM_014497		71576566	1			no_errors	ENST00000264447	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	71576566	C	A	71576566	3	1	56	1	0	0	0	0	1	0	0	0	18103	681	24	3	484	3	ZNF638	2	71576566	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	34299582	71576566	171622807	19	13804											
FAHD2A	51011	genome.wustl.edu	37	chr2	96078479	96078479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgggacccccccaggtgtCggtgtattcaggaaacctcc	8	8	11	14	1	1	0	1	0	0	0	3	2	2	2	5	4	1	1	5	4	2	2	rs572805523		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:96078479C>T	ENST00000233379.4	+	7	1002	c.849C>T	c.(847-849)gtC>gtT	p.V283V	FAHD2A_ENST00000447036.1_Silent_p.V283V	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	283							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCCAGGTGTCGGTGTATTCA	0.552													c|||	1	0.000199681	0	0	5008	,	,		21025	0.001		0	False		,,,				2504	0																0													38	39	39					2																	96078479		2203	4297	6500	SO:0001819	synonymous_variant	0			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.849C>T	2.37:g.96078479C>T			Q9Y3B0	Silent	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.V283	ENST00000233379.4	37	c.849	CCDS2014.1	2																																																																																			FAHD2A	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000115042		0.552	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1	-	0	53	0	C	NM_016044		96078479	1	tier1	-	no_errors	ENST00000233379	ensembl	human	known	74_37	silent	34.69	32	17	SNP	0.978	T	T	96078479	C	T	96078479	2	4	56	1	0	0	0	0	0	0	0	1	5392	871	31	1		1	FAHD2A	2	96078479	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	24501913	96078479	147120894	20	13805											
TSGA10	80705	genome.wustl.edu	37	chr2	99722121	99722121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggactcttacagctttTcatcatttctcgtcgaagtc	8	17	6	10	2	4	0	2	0	2	0	7	2	4	1	0	1	2	1	0	1	3	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:99722121T>C	ENST00000393483.3	-	8	1094	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	TSGA10_ENST00000410001.1_Missense_Mutation_p.K84E|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.K84E|TSGA10_ENST00000542655.1_Missense_Mutation_p.K84E|TSGA10_ENST00000355053.4_Missense_Mutation_p.K84E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	84					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTACAGCTTTTCATCATTTCT	0.378																																																	0													235	223	227					2																	99722121		2203	4300	6503	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.250A>G	2.37:g.99722121T>C	ENSP00000377123:p.Lys84Glu		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.K84E	ENST00000393483.3	37	c.250	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912626	0.72983	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000013	T	0.44519	0.1297	L	0.47716	1.5	0.29579	N	0.849274	P;P	0.50156	0.932;0.884	P;P	0.47827	0.558;0.457	T	0.40590	-0.9555	10	0.22706	T	0.39	-26.9549	9.9333	0.41537	0.0:0.0:0.1709:0.8291	.	84;84	B7Z925;Q9BZW7	.;TSG10_HUMAN	E	84	ENSP00000377123:K84E;ENSP00000386956:K84E;ENSP00000347161:K84E;ENSP00000444419:K84E;ENSP00000386508:K84E;ENSP00000377122:K84E	ENSP00000347161:K84E	K	-	1	0	TSGA10	99088553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.381000	0.59587	2.101000	0.63845	0.529000	0.55759	AAA	TSGA10	-	NULL	ENSG00000135951		0.378	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	23	0	T	NM_182911		99722121	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	C	C	99722121	T	C	99722121	3	2	56	1	0	0	0	0	1	0	0	0	16665	1792	62	4	1902	4	TSGA10	2	99722121	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	3643642	99722121	143477252	21	13806											
GPR39	2863	genome.wustl.edu	37	chr2	133175428	133175428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgaggaagtccgagagCgaagagagcaggaccgccag	13	2	16	10	3	0	3	0	1	0	2	1	8	1	5	3	2	3	2	3	2	2	0	rs558356688		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:133175428C>T	ENST00000329321.3	+	1	1282	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	271					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTCCGAGAGCGAAGAGAGCA	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		18524	0		0	False		,,,				2504	0																0													50	52	51					2																	133175428		2203	4300	6503	SO:0001819	synonymous_variant	0			AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"GPCR / Class A : Orphans"	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.813C>T	2.37:g.133175428C>T			B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S271	ENST00000329321.3	37	c.813	CCDS2170.1	2																																																																																			GPR39	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183840		0.617	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR39	HGNC	protein_coding	OTTHUMT00000254582.1	-	0	29	0	C			133175428	1	tier1	-	no_errors	ENST00000329321	ensembl	human	known	74_37	silent	20.83	18	5	SNP	0.945	T	T	133175428	C	T	133175428	2	4	56	1	0	0	0	0	0	0	0	1	6719	767	27	1		1	GPR39	2	133175428	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	33453307	133175428	110023945	22	13807											
LRP1B	53353	genome.wustl.edu	37	chr2	141762950	141762950	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagttgattatcggcacaAgcacacacccggcctcctgg	12	7	9	13	2	0	1	0	1	0	0	2	1	1	1	3	3	1	3	3	3	4	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:141762950A>G	ENST00000389484.3	-	15	3428	c.2457T>C	c.(2455-2457)gcT>gcC	p.A819A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	819	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATCGGCACAAGCACACACCC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													82	79	80					2																	141762950		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2457T>C	2.37:g.141762950A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A819	ENST00000389484.3	37	c.2457	CCDS2182.1	2																																																																																			LRP1B	-	smart_EG-like_dom	ENSG00000168702		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	65	0	A	NM_018557		141762950	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.986	G	G	141762950	A	G	141762950	2	3	56	1	0	0	0	0	0	0	0	1	8990	59	3	4		4	LRP1B	2	141762950	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	8587522	141762950	101436423	23	13808											
ARHGAP15	55843	genome.wustl.edu	37	chr2	144194557	144194557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctagcactgaattgctaAgtcactacgacagtgatata	13	11	7	10	1	2	2	1	2	1	0	2	3	2	2	1	0	3	2	1	0	6	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:144194557A>T	ENST00000295095.6	+	8	816	c.649A>T	c.(649-651)Agt>Tgt	p.S217C	AC096558.1_ENST00000442794.1_RNA|AC096558.1_ENST00000549032.1_RNA|AC096558.1_ENST00000550516.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	217					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTGCTAAGTCACTACGA	0.348																																																	0													77	75	76					2																	144194557		2203	4300	6503	SO:0001583	missense	0			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.649A>T	2.37:g.144194557A>T	ENSP00000295095:p.Ser217Cys		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S217C	ENST00000295095.6	37	c.649	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858965	0.51376	.	.	ENSG00000075884	ENST00000295095	T	0.09911	2.93	5.55	2.84	0.33178	.	0.612022	0.18861	N	0.129127	T	0.08935	0.0221	L	0.29908	0.895	0.36185	D	0.849698	P;P	0.51653	0.947;0.86	B;P	0.44359	0.319;0.447	T	0.25433	-1.0132	10	0.62326	D	0.03	.	6.7508	0.23485	0.7159:0.1307:0.1534:0.0	.	217;217	B4E0R3;Q53QZ3	.;RHG15_HUMAN	C	217	ENSP00000295095:S217C	ENSP00000295095:S217C	S	+	1	0	ARHGAP15	143911027	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.154000	0.42291	0.926000	0.37118	0.528000	0.53228	AGT	ARHGAP15	-	NULL	ENSG00000075884		0.348	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	-	0	57	0	A	NM_018460		144194557	1	tier1	-	no_errors	ENST00000295095	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.996	T	T	144194557	A	T	144194557	3	4	56	1	0	0	0	0	1	0	0	0	866	72	3	5	675	5	ARHGAP15	2	144194557	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	2431607	144194557	99004816	24	13809											
EPC2	26122	genome.wustl.edu	37	chr2	149528623	149528623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttttcagggtcataatgGaccgaatatccacagaacat	13	11	8	9	1	2	1	2	0	0	1	3	3	3	2	2	2	2	1	2	2	4	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:149528623G>T	ENST00000258484.6	+	10	1421	c.1387G>T	c.(1387-1389)Gac>Tac	p.D463Y		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	463					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GGTCATAATGGACCGAATATC	0.378																																																	0													51	47	49					2																	149528623		1844	4098	5942	SO:0001583	missense	0			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1387G>T	2.37:g.149528623G>T	ENSP00000258484:p.Asp463Tyr		B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.D463Y	ENST00000258484.6	37	c.1387	CCDS46422.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354071	0.82243	.	.	ENSG00000135999	ENST00000258484	T	0.25579	1.79	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55692	-0.8101	10	0.87932	D	0	-4.0559	20.0303	0.97534	0.0:0.0:1.0:0.0	.	463	Q52LR7	EPC2_HUMAN	Y	463	ENSP00000258484:D463Y	ENSP00000258484:D463Y	D	+	1	0	EPC2	149245093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.504000	0.90512	2.794000	0.96219	0.650000	0.86243	GAC	EPC2	-	NULL	ENSG00000135999		0.378	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPC2	HGNC	protein_coding	OTTHUMT00000332278.1		0	45	0	G	NM_015630		149528623	1			no_errors	ENST00000258484	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	149528623	G	T	149528623	3	4	56	1	0	0	0	0	1	0	0	0	5177	1174	41	3	1425	3	EPC2	2	149528623	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	5334066	149528623	93670750	25	13810											
ITGB6	3694	genome.wustl.edu	37	chr2	161055715	161055715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcacaccaggcacactgaGgtccaataagcaggcagtct	13	5	11	12	0	1	1	0	1	1	0	2	2	2	1	2	3	2	4	2	3	2	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:161055715G>A	ENST00000283249.2	-	2	353	c.116C>T	c.(115-117)cCt>cTt	p.P39L	ITGB6_ENST00000428609.2_Intron|ITGB6_ENST00000409872.1_Missense_Mutation_p.P39L|ITGB6_ENST00000485635.1_Intron|ITGB6_ENST00000409967.2_Missense_Mutation_p.P39L	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	39					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GGCACACTGAGGTCCAATAAG	0.438																																																	0													94	91	92					2																	161055715		2203	4300	6503	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.116C>T	2.37:g.161055715G>A	ENSP00000283249:p.Pro39Leu		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.P39L	ENST00000283249.2	37	c.116	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.438727	0.96168	.	.	ENSG00000115221	ENST00000283249;ENST00000409967;ENST00000409872	D;D;D	0.92965	-3.14;-3.14;-3.14	5.68	5.68	0.88126	Integrin beta subunit, N-terminal (2);	0.233772	0.45361	D	0.000369	D	0.94899	0.8351	M	0.78456	2.415	0.80722	D	1	D	0.58268	0.982	P	0.53360	0.724	D	0.95138	0.8261	10	0.87932	D	0	.	19.7917	0.96461	0.0:0.0:1.0:0.0	.	39	P18564	ITB6_HUMAN	L	39	ENSP00000283249:P39L;ENSP00000386828:P39L;ENSP00000386367:P39L	ENSP00000283249:P39L	P	-	2	0	ITGB6	160763961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.469000	0.80959	2.688000	0.91661	0.563000	0.77884	CCT	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	ENSG00000115221		0.438	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	-	0	42	0	G	NM_000888		161055715	-1	tier1	-	no_errors	ENST00000283249	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	A	A	161055715	G	A	161055715	3	1	56	1	0	0	0	0	1	0	0	0	7926	1000	35	3	2306	3	ITGB6	2	161055715	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	11527092	161055715	82143658	26	13811											
SCN2A	6326	genome.wustl.edu	37	chr2	166245431	166245431	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttggcaacagcatgatCtgcctgttccaaattacaac	12	11	6	12	0	1	1	0	1	1	0	2	1	2	1	3	1	5	3	3	1	4	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:166245431C>A	ENST00000375437.2	+	27	5405	c.5115C>A	c.(5113-5115)atC>atA	p.I1705I	SCN2A_ENST00000375427.2_Silent_p.I1705I|SCN2A_ENST00000357398.3_Silent_p.I1705I|SCN2A_ENST00000283256.6_Silent_p.I1705I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1705					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1705I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAGCATGATCTGCCTGTTCC	0.463																																																	2	Substitution - coding silent(2)	lung(2)											232	227	229					2																	166245431		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5115C>A	2.37:g.166245431C>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I1705	ENST00000375437.2	37	c.5115	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000136531		0.463	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	83	0	C	NM_021007		166245431	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	22.86	54	16	SNP	1.000	A	A	166245431	C	A	166245431	2	1	56	1	0	0	0	0	0	0	0	1	13961	903	32	3		3	SCN2A	2	166245431	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	5189716	166245431	76953942	27	13812											
TTN	7273	genome.wustl.edu	37	chr2	179579062	179579062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcttgcatcccagcatcGtttttgatctgacaagtgta	9	14	7	11	1	2	2	0	2	2	0	4	2	3	2	1	0	2	4	1	0	2	4	rs200088963		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:179579062G>T	ENST00000591111.1	-	89	25712	c.25488C>A	c.(25486-25488)aaC>aaA	p.N8496K	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.N8813K|TTN_ENST00000342992.6_Missense_Mutation_p.N7569K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12660	Ig-like 67.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCAGCATCGTTTTTGATCT	0.418																																																	0													144	139	141					2																	179579062		1914	4121	6035	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25488C>A	2.37:g.179579062G>T	ENSP00000465570:p.Asn8496Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.N7569K	ENST00000591111.1	37	c.22707		2	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435814	0.43224	.	.	ENSG00000155657	ENST00000342992	T	0.59638	0.25	5.96	-7.18	0.01505	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82692	0.5092	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87745	0.2588	9	0.87932	D	0	.	15.5727	0.76352	0.6423:0.0:0.3577:0.0	.	8496	Q8WZ42	TITIN_HUMAN	K	7569	ENSP00000343764:N7569K	ENSP00000343764:N7569K	N	-	3	2	TTN	179287307	0.561000	0.26578	0.827000	0.32855	0.883000	0.51084	-0.088000	0.11198	-1.416000	0.02019	-0.294000	0.09567	AAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	27	0	G	NM_133378		179579062	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.977	T	T	179579062	G	T	179579062	3	4	56	1	0	0	0	0	1	0	0	0	16784	1136	40	2	78178	2	TTN	2	179579062	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	13333631	179579062	63620311	28	13813											
TTN	7273	genome.wustl.edu	37	chr2	179596611	179596611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagtgatctcaaagggaGgagtgcctgccacctcagcc	11	6	11	13	0	2	1	2	1	1	0	3	3	2	3	5	2	3	0	5	2	2	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:179596611G>T	ENST00000591111.1	-	56	16264	c.16040C>A	c.(16039-16041)cCt>cAt	p.P5347H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P5664H|TTN_ENST00000342992.6_Missense_Mutation_p.P4420H|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12165	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAAAGGGAGGAGTGCCTGC	0.418																																																	0													110	114	113					2																	179596611		2033	4208	6241	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16040C>A	2.37:g.179596611G>T	ENSP00000465570:p.Pro5347His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P4420H	ENST00000591111.1	37	c.13259		2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682977	0.29872	.	.	ENSG00000155657	ENST00000342992	T	0.74526	-0.85	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86944	0.6055	M	0.83774	2.66	0.80722	D	1	D	0.61697	0.99	P	0.60345	0.873	D	0.87237	0.2264	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	5347	Q8WZ42	TITIN_HUMAN	H	4420	ENSP00000343764:P4420H	ENSP00000343764:P4420H	P	-	2	0	TTN	179304856	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.537000	0.73847	2.941000	0.99782	0.655000	0.94253	CCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	68	0	G	NM_133378		179596611	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	179596611	G	T	179596611	3	4	56	1	0	0	0	0	1	0	0	0	16784	1000	35	3	87758	3	TTN	2	179596611	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	17549	179596611	63602762	29	13814											
TTN	7273	genome.wustl.edu	37	chr2	179640598	179640598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcgcttgaatttactgCgcagctcttccgactcttca	6	15	7	13	3	4	1	1	1	3	0	5	2	5	1	1	0	4	3	1	0	2	6	rs144135510	byFrequency	TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:179640598C>T	ENST00000591111.1	-	28	6217	c.5993G>A	c.(5992-5994)cGc>cAc	p.R1998H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1952H|TTN_ENST00000589042.1_Missense_Mutation_p.R1998H|TTN_ENST00000342992.6_Missense_Mutation_p.R1998H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R1952H|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1998H|TTN_ENST00000460472.2_Missense_Mutation_p.R1952H			Q8WZ42	TITIN_HUMAN	titin	12808			R -> H. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTACTGCGCAGCTCTTC	0.453													C|||	8	0.00159744	0	0	5008	,	,		19737	0		0	False		,,,				2504	0.0082																0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	113	120	117		5855,5993,5993,5855,5855	5.1	1	2	dbSNP_134	117	10,8590	7.7+/-29.5	0,10,4290	yes	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	29,29,29,29,29	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1952/26927,1998/33424,1998/5605,1952/27052,1952/27119	179640598	10,12996	2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5993G>A	2.37:g.179640598C>T	ENSP00000465570:p.Arg1998His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1998H	ENST00000591111.1	37	c.5993		2	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744028	0.30865	0.0	0.001163	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66280	-0.2;0.04;0.03;0.02;0.15	5.12	5.12	0.69794	Ribonuclease H-like (1);	.	.	.	.	T	0.72195	0.3430	L	0.32530	0.975	0.30885	N	0.731033	D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0	P;P;P;D;D	0.74023	0.869;0.869;0.893;0.939;0.982	T	0.73808	-0.3866	9	0.87932	D	0	.	18.5589	0.91094	0.0:1.0:0.0:0.0	.	1952;1952;1952;1998;1998	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1998;1952;1952;1952;1952;1998	ENSP00000343764:R1998H;ENSP00000434586:R1952H;ENSP00000340554:R1952H;ENSP00000352154:R1952H;ENSP00000354117:R1998H	ENSP00000340554:R1952H	R	-	2	0	TTN	179348843	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.733000	0.62036	2.387000	0.81309	0.609000	0.83330	CGC	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	43	0	C	NM_133378		179640598	-1	tier1	rs144135510	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.66	34	13	SNP	1.000	T	T	179640598	C	T	179640598	3	4	56	1	0	0	0	0	1	0	0	0	16784	768	27	1	105335	1	TTN	2	179640598	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	43987	179640598	63558775	30	13815											
ZNF804A	91752	genome.wustl.edu	37	chr2	185801978	185801978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcagaaactcgctgcAaaatggaagcagagaatagt	19	6	10	6	1	1	3	1	0	0	3	2	5	1	4	0	1	3	3	0	1	8	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:185801978A>G	ENST00000302277.6	+	4	2449	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	619							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACTCGCTGCAAAATGGAAGC	0.343																																																	0													88	96	93					2																	185801978		2203	4297	6500	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1855A>G	2.37:g.185801978A>G	ENSP00000303252:p.Lys619Glu		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K619E	ENST00000302277.6	37	c.1855	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797194	0.31777	.	.	ENSG00000170396	ENST00000302277	T	0.06449	3.3	5.51	5.51	0.81932	.	0.774714	0.11449	N	0.562926	T	0.12178	0.0296	L	0.53249	1.67	0.22779	N	0.998749	D	0.53151	0.958	P	0.50082	0.63	T	0.22977	-1.0201	10	0.36615	T	0.2	-10.612	9.2187	0.37364	0.9111:0.0:0.0889:0.0	.	619	Q7Z570	Z804A_HUMAN	E	619	ENSP00000303252:K619E	ENSP00000303252:K619E	K	+	1	0	ZNF804A	185510223	0.000000	0.05858	0.871000	0.34182	0.026000	0.11368	0.294000	0.19047	2.087000	0.62958	0.533000	0.62120	AAA	ZNF804A	-	NULL	ENSG00000170396		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	30	0	A	NM_194250		185801978	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.645	G	G	185801978	A	G	185801978	3	3	56	1	0	0	0	0	1	0	0	0	18218	131	5	4	1869	4	ZNF804A	2	185801978	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	6161380	185801978	57397395	31	13816											
PLCL1	5334	genome.wustl.edu	37	chr2	198966062	198966062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacacagtccaggaaaaGattgtacagtgtcagaaagc	15	6	12	8	1	1	2	1	0	0	2	2	4	2	4	1	2	2	1	1	2	4	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:198966062G>T	ENST00000428675.1	+	4	3371	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	PLCL1_ENST00000437704.2_Missense_Mutation_p.K893N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	991					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCCAGGAAAAGATTGTACAGT	0.313																																																	0													97	98	97					2																	198966062		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2973G>T	2.37:g.198966062G>T	ENSP00000402861:p.Lys991Asn		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K991N	ENST00000428675.1	37	c.2973	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072267	0.55646	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.22743	1.94;1.99	5.2	2.36	0.29203	.	0.000000	0.56097	D	0.000030	T	0.38480	0.1042	M	0.79805	2.47	0.50039	D	0.999845	D;D	0.59357	0.985;0.985	P;P	0.58660	0.843;0.843	T	0.18429	-1.0337	9	.	.	.	.	8.6007	0.33742	0.316:0.0:0.684:0.0	.	991;917	Q15111;B4DYZ4	PLCL1_HUMAN;.	N	991;893	ENSP00000402861:K991N;ENSP00000414138:K893N	.	K	+	3	2	PLCL1	198674307	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.434000	0.34958	0.746000	0.32786	-0.218000	0.12543	AAG	PLCL1	-	NULL	ENSG00000115896		0.313	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	36	0	G	NM_006226		198966062	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	198966062	G	T	198966062	3	4	56	1	0	0	0	0	1	0	0	0	12078	933	33	3	2987	3	PLCL1	2	198966062	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	13164084	198966062	44233311	32	13817											
COL6A3	1293	genome.wustl.edu	37	chr2	238280759	238280759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcccttgggcctcagccGctgcaccgcgttctgcactt	3	10	9	19	3	2	0	1	0	1	0	3	0	3	0	5	1	3	4	5	1	0	3	rs150430813	byFrequency	TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:238280759G>A	ENST00000295550.4	-	9	4353	c.3901C>T	c.(3901-3903)Cgg>Tgg	p.R1301W	COL6A3_ENST00000392004.3_Missense_Mutation_p.R1095W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1095W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R894W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1095W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R694W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1101W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1100W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1301	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1301W(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCTCAGCCGCTGCACCGCG	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)						G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	64	57	60		3901,2680,3283,2080,3283	-4	0	2	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1301/3178,894/1037,1095/1238,694/2571,1095/2972	238280759	1,13005	2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3901C>T	2.37:g.238280759G>A	ENSP00000295550:p.Arg1301Trp		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1301W	ENST00000295550.4	37	c.3901	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873472	0.33069	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.43	-3.95	0.04118	von Willebrand factor, type A (3);	0.000000	0.50627	D	0.000105	T	0.64057	0.2564	M	0.88775	2.98	0.09310	N	0.999997	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.998	D;D;D;D;P	0.85130	0.997;0.954;0.967;0.994;0.828	T	0.63116	-0.6709	10	0.87932	D	0	.	13.923	0.63945	0.0:0.0792:0.241:0.6798	.	694;894;1095;1095;1301	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	W	1301;1100;1095;694;1095;1101;1095;894	ENSP00000295550:R1301W;ENSP00000315609:R1100W;ENSP00000315873:R1095W;ENSP00000418285:R694W;ENSP00000386844:R1095W;ENSP00000295546:R1101W;ENSP00000375861:R1095W;ENSP00000375860:R894W	ENSP00000295550:R1301W	R	-	1	2	COL6A3	237945498	0.000000	0.05858	0.030000	0.17652	0.049000	0.14656	0.426000	0.21363	-0.342000	0.08363	-0.182000	0.12963	CGG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	35	0	G	NM_004369		238280759	-1	tier1	rs150430813	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	22.73	34	10	SNP	0.000	A	A	238280759	G	A	238280759	3	1	56	1	0	0	0	0	1	0	0	0	3708	1086	38	1	5823	1	COL6A3	2	238280759	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	39314697	238280759	4918614	33	13818											
COL6A3	1293	genome.wustl.edu	37	chr2	238283179	238283179	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaggtgggaatggccacGgcaaagtccgggatgaagga	13	4	17	7	3	0	1	0	1	0	0	1	5	1	4	2	6	0	1	2	6	4	0	rs373719229		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:238283179G>T	ENST00000295550.4	-	8	4007	c.3555C>A	c.(3553-3555)gcC>gcA	p.A1185A	COL6A3_ENST00000392004.3_Silent_p.A979A|COL6A3_ENST00000353578.4_Silent_p.A979A|COL6A3_ENST00000392003.2_Silent_p.A778A|COL6A3_ENST00000409809.1_Silent_p.A979A|COL6A3_ENST00000472056.1_Silent_p.A578A|COL6A3_ENST00000346358.4_Silent_p.A985A|COL6A3_ENST00000347401.3_Silent_p.A984A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1185	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAATGGCCACGGCAAAGTCCG	0.627																																																	0													89	70	77					2																	238283179		2203	4300	6503	SO:0001819	synonymous_variant	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3555C>A	2.37:g.238283179G>T			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.A1185	ENST00000295550.4	37	c.3555	CCDS33412.1	2																																																																																			COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.627	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	38	0	G	NM_004369		238283179	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	37.50	20	12	SNP	0.001	T	T	238283179	G	T	238283179	2	4	56	1	0	0	0	0	0	0	0	1	3708	1103	39	2		2	COL6A3	2	238283179	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	2420	238283179	4916194	34	13819											
NEU4	129807	genome.wustl.edu	37	chr2	242756291	242756291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccgtgacgccggcctctCgtggggcagcgcccgggacc	4	4	16	17	6	1	1	0	1	1	0	2	2	1	2	5	4	2	1	5	4	0	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr2:242756291C>T	ENST00000391969.2	+	4	1115	c.404C>T	c.(403-405)tCg>tTg	p.S135L	NEU4_ENST00000405370.1_Missense_Mutation_p.S135L|NEU4_ENST00000404257.1_Missense_Mutation_p.S147L|NEU4_ENST00000407683.1_Missense_Mutation_p.S135L|NEU4_ENST00000325935.6_Missense_Mutation_p.S148L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	135					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCGGCCTCTCGTGGGGCAGC	0.716																																																	0													6	7	7					2																	242756291		2060	4078	6138	SO:0001583	missense	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.404C>T	2.37:g.242756291C>T	ENSP00000375830:p.Ser135Leu		A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Sialidases	p.S148L	ENST00000391969.2	37	c.443	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021311	0.35701	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288	D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	4.57	1.46	0.22682	Neuraminidase (2);	0.350770	0.31734	N	0.007150	D	0.87334	0.6151	M	0.75085	2.285	0.25790	N	0.984626	P;P;P	0.51791	0.919;0.901;0.948	P;B;P	0.52481	0.448;0.32;0.7	T	0.80872	-0.1188	10	0.87932	D	0	-22.3923	10.4691	0.44626	0.1024:0.4206:0.477:0.0	.	147;147;135	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	L	135;135;145;135;147;135;148;135	ENSP00000385402:S135L;ENSP00000384804:S135L;ENSP00000397860:S135L;ENSP00000385149:S147L;ENSP00000375830:S135L;ENSP00000320318:S148L;ENSP00000388707:S135L	ENSP00000320318:S148L	S	+	2	0	NEU4	242404964	0.985000	0.35326	0.011000	0.14972	0.068000	0.16541	1.063000	0.30567	0.327000	0.23409	0.462000	0.41574	TCG	NEU4	-	superfamily_Sialidases	ENSG00000204099		0.716	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	-	0	36	0	C	NM_080741		242756291	1	tier1	-	no_errors	ENST00000325935	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.929	T	T	242756291	C	T	242756291	3	4	56	1	0	0	0	0	1	0	0	0	10383	893	31	1	453	1	NEU4	2	242756291	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	4473112	242756291	443082	35	13820											
NUP210	23225	genome.wustl.edu	37	chr3	13372036	13372036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggtggatgtcccgatcAtagaccctgatgctagaaag	11	9	12	9	2	1	3	1	1	0	2	2	6	2	4	2	2	1	1	2	2	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:13372036A>T	ENST00000254508.5	-	30	4116	c.4034T>A	c.(4033-4035)aTg>aAg	p.M1345K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1345					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGTCCCGATCATAGACCCTGA	0.507																																																	0													195	180	185					3																	13372036		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4034T>A	3.37:g.13372036A>T	ENSP00000254508:p.Met1345Lys		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.M1345K	ENST00000254508.5	37	c.4034	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	A	5.559	0.288085	0.10513	.	.	ENSG00000132182	ENST00000254508	T	0.04049	3.72	5.44	-5.63	0.02474	.	1.060040	0.07313	N	0.876212	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.47611	-0.9104	10	0.05721	T	0.95	0.204	5.0725	0.14613	0.2819:0.1178:0.4909:0.1094	.	1345	Q8TEM1	PO210_HUMAN	K	1345	ENSP00000254508:M1345K	ENSP00000254508:M1345K	M	-	2	0	NUP210	13347036	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	1.321000	0.33678	-1.266000	0.02446	0.460000	0.39030	ATG	NUP210	-	NULL	ENSG00000132182		0.507	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	97	0	A	NM_024923		13372036	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	44.44	35	28	SNP	0.000	T	T	13372036	A	T	13372036	3	4	56	1	0	0	0	0	1	0	0	0	10799	217	8	5	1673	5	NUP210	3	13372036	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09		13372036	184650394	36	13821											
CELSR3	1951	genome.wustl.edu	37	chr3	48698502	48698502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtggccgagcgcggcccGggttcctggccctggtcgct	3	7	16	15	5	0	0	0	0	0	0	2	1	1	0	4	5	1	2	4	5	0	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:48698502G>A	ENST00000164024.4	-	1	1846	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.P522P	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	522	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCGCGGCCCGGGTTCCTGGC	0.642																																																	0													34	30	32					3																	48698502		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1566C>T	3.37:g.48698502G>A			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.P522	ENST00000164024.4	37	c.1566	CCDS2775.1	3																																																																																			CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000008300		0.642	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	-	0	20	0	G	NM_001407		48698502	-1	tier1	-	no_errors	ENST00000544264	ensembl	human	known	74_37	silent	37.50	10	6	SNP	0.002	A	A	48698502	G	A	48698502	2	1	56	1	0	0	0	0	0	0	0	1	3230	1103	39	1		1	CELSR3	3	48698502	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	35326466	48698502	149323928	37	13822											
AMIGO3	29925	genome.wustl.edu	37	chr3	49756817	49756817	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagttgtggagcgcacgggGcgggaaaccctcggagtccg	7	5	18	11	5	0	0	0	0	0	0	2	3	1	3	2	5	2	3	2	5	1	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:49756817G>T	ENST00000480687.1	-	0	3567				RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.P28T|AMIGO3_ENST00000535833.1_Missense_Mutation_p.P28T			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCGCACGGGGCGGGAAACCC	0.652											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54	60	58					3																	49756817		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*2368C>A	3.37:g.49756817G>T		964	A8K6N5|Q9H7U3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P28T	ENST00000480687.1	37	c.82	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042810	0.55003	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.60040	0.22;0.22	5.8	-1.23	0.09465	.	0.850734	0.10466	N	0.671388	T	0.32133	0.0819	N	0.14661	0.345	0.25352	N	0.98885	B	0.14012	0.009	B	0.17098	0.017	T	0.17684	-1.0361	10	0.41790	T	0.15	-7.8442	1.2337	0.01949	0.2945:0.11:0.3715:0.224	.	28	Q86WK7	AMGO3_HUMAN	T	28	ENSP00000323096:P28T;ENSP00000439268:P28T	ENSP00000323096:P28T	P	-	1	0	AMIGO3	49731821	0.000000	0.05858	0.003000	0.11579	0.073000	0.16967	0.112000	0.15479	-0.131000	0.11578	0.655000	0.94253	CCC	AMIGO3	-	NULL	ENSG00000176020		0.652	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1		0	41	0	G	NM_013334		49756817	-1			no_errors	ENST00000320431	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.001	T	T	49756817	G	T	49756817	1	4	56	0	1	0	0	0	0	0	0	0	577	1203	42	3		3	AMIGO3	3	49756817	3'UTR	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1058315	49756817	148265613	38	13823											
PARP3	10039	genome.wustl.edu	37	chr3	51978457	51978459	+	In_Frame_Del	DEL	AAG	AAG	-																															tcacaaggctagaagatgcaAagaaggactttgagaagaaa																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:51978457_51978459delAAG	ENST00000417220.2	+	5	852_854	c.364_366delAAG	c.(364-366)aagdel	p.K123del	PARP3_ENST00000398755.3_In_Frame_Del_p.K130del|PARP3_ENST00000431474.1_In_Frame_Del_p.K123del|RRP9_ENST00000232888.6_5'Flank			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	123					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGATGCAAAGAAGGACTTTG	0.512																																																	0																																										SO:0001651	inframe_deletion	0			AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"Poly (ADP-ribose) polymerases"	273	protein-coding gene	gene with protein product	"poly(ADP-ribose) synthetase-3", "NAD+ ADP-ribosyltransferase 3", "poly(ADP-ribose) polymerase 3"	607726	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.364_366delAAG	3.37:g.51978460_51978462delAAG	ENSP00000395951:p.Lys123del		Q8NER9|Q96CG2|Q9UG81	In_Frame_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.K130in_frame_del	ENST00000417220.2	37	c.385_387	CCDS43097.1	3																																																																																			PARP3	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain	ENSG00000041880		0.512	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	HGNC	protein_coding	OTTHUMT00000348612.2		0	48	0	AAG	NM_005485.4		51978459	1	tier1		no_errors	ENST00000398755	ensembl	human	known	74_37	in_frame_del	26.67	22	8	DEL	0.987:0.996:1.000	-	-	51978459	AAG	-	51978457	7	5	56	1	0	1	0	1	0	0	0	0	11501	15	1	0	399	0	PARP3	3	51978457	In_Frame_Del	DEL	AAG	TCGA-L5-A4OG-01A-11D-A27G-09	2221640	51978457	146043973	39	13824											
STAB1	23166	genome.wustl.edu	37	chr3	52546871	52546871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacgcttcctgccgacCgccgagtcacagccctggtg	6	7	11	17	4	2	0	2	0	0	0	3	2	3	0	5	1	2	2	5	1	0	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:52546871C>T	ENST00000321725.6	+	29	3131	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1019	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGCCGACCGCCGAGTCAC	0.667																																																	0													33	38	36					3																	52546871		2199	4289	6488	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3055C>T	3.37:g.52546871C>T	ENSP00000312946:p.Arg1019Cys		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1019C	ENST00000321725.6	37	c.3055	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294440	0.40594	.	.	ENSG00000010327	ENST00000321725	D	0.91792	-2.91	5.84	-5.35	0.02697	FAS1 domain (4);	1.092920	0.06754	N	0.780586	D	0.86590	0.5969	L	0.42245	1.32	0.09310	N	1	P	0.40360	0.714	B	0.37422	0.249	T	0.79040	-0.1966	10	0.56958	D	0.05	.	9.6067	0.39637	0.2868:0.2099:0.5033:0.0	.	1019	Q9NY15	STAB1_HUMAN	C	1019	ENSP00000312946:R1019C	ENSP00000312946:R1019C	R	+	1	0	STAB1	52521911	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.060000	0.14342	-1.243000	0.02519	-2.333000	0.00248	CGC	STAB1	-	pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000010327		0.667	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	43	0	C	NM_015136		52546871	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.000	T	T	52546871	C	T	52546871	3	4	56	1	0	0	0	0	1	0	0	0	15284	652	23	1	3169	1	STAB1	3	52546871	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	568414	52546871	145475559	40	13825											
ITIH1	3697	genome.wustl.edu	37	chr3	52816275	52816275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatgagaggccagaaaGtgaagcaggtaggctgcagc	12	5	15	9	0	0	3	0	2	0	2	1	4	1	3	2	3	3	5	2	3	3	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:52816275G>A	ENST00000273283.2	+	8	946	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.V308M|ITIH1_ENST00000540715.1_Missense_Mutation_p.V166M|ITIH1_ENST00000537050.1_Missense_Mutation_p.V20M	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	308	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGGCCAGAAAGTGAAGCAGGT	0.507																																																	0													65	63	64					3																	52816275		2203	4300	6503	SO:0001583	missense	0				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"inter-alpha (globulin) inhibitor, H1 polypeptide"			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.922G>A	3.37:g.52816275G>A	ENSP00000273283:p.Val308Met		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.V308M	ENST00000273283.2	37	c.922	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	G	5.312	0.242872	0.10077	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.66	1.35	0.21983	von Willebrand factor, type A (3);	0.310233	0.40469	N	0.001091	T	0.52837	0.1759	N	0.02315	-0.6	0.27383	N	0.955363	B	0.21520	0.057	B	0.29267	0.1	T	0.51996	-0.8634	10	0.02654	T	1	-7.547	3.9039	0.09174	0.2851:0.3745:0.3404:0.0	.	308	P19827	ITIH1_HUMAN	M	308;308;166;20	ENSP00000442584:V308M;ENSP00000273283:V308M;ENSP00000443973:V166M;ENSP00000443847:V20M	ENSP00000273283:V308M	V	+	1	0	ITIH1	52791315	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.653000	0.37323	0.756000	0.33013	0.650000	0.86243	GTG	ITIH1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000055957		0.507	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	-	0	27	0	G	NM_002215		52816275	1	tier1	-	no_errors	ENST00000273283	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A	A	52816275	G	A	52816275	3	1	56	1	0	0	0	0	1	0	0	0	7930	1029	36	3	952	3	ITIH1	3	52816275	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	269404	52816275	145206155	41	13826											
CCDC66	285331	genome.wustl.edu	37	chr3	56600710	56600710	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaactgaaatggtttcAtctgtcccagctgaaaataa	18	10	6	7	0	2	2	1	2	1	0	3	2	3	2	1	1	2	2	1	1	7	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:56600710A>G	ENST00000394672.3	+	5	703	c.633A>G	c.(631-633)tcA>tcG	p.S211S	CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000326595.7_Silent_p.S177S|CCDC66_ENST00000436465.2_Silent_p.S211S|CCDC66_ENST00000538560.1_Silent_p.S211S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	211					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AAATGGTTTCATCTGTCCCAG	0.328																																																	0													88	90	89					3																	56600710		2202	4300	6502	SO:0001819	synonymous_variant	0			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.633A>G	3.37:g.56600710A>G			B3KWL8|Q4VC34|Q8N949	Silent	SNP	NULL	p.S211	ENST00000394672.3	37	c.633	CCDS46852.1	3																																																																																			CCDC66	-	NULL	ENSG00000180376		0.328	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1		0	23	0	A	NM_001012506		56600710	1			no_errors	ENST00000394672	ensembl	human	known	74_37	silent	8.33	22	2	SNP	0.000	G	G	56600710	A	G	56600710	2	3	56	1	0	0	0	0	0	0	0	1	2845	204	8	4		4	CCDC66	3	56600710	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	3784435	56600710	141421720	42	13827											
TMF1	7110	genome.wustl.edu	37	chr3	69097567	69097567	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcgagagaaaggcactgaAgaaattttcagattcatcga	15	9	11	6	2	2	4	2	1	0	3	3	7	2	4	0	2	0	1	0	2	3	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:69097567A>C	ENST00000398559.2	-	2	505	c.289T>G	c.(289-291)Ttc>Gtc	p.F97V	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.F97V|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	97					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AAGGCACTGAAGAAATTTTCA	0.448																																																	0													237	226	229					3																	69097567		1922	4140	6062	SO:0001583	missense	0				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.289T>G	3.37:g.69097567A>C	ENSP00000381567:p.Phe97Val		B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.F97V	ENST00000398559.2	37	c.289	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905561	0.92107	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248;ENST00000438636	T;T	0.36699	1.25;1.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.998;0.991	D;P	0.71656	0.974;0.88	T	0.50923	-0.8770	10	0.15499	T	0.54	-7.2764	16.1461	0.81569	1.0:0.0:0.0:0.0	.	97;97	P82094-2;P82094	.;TMF1_HUMAN	V	97	ENSP00000381567:F97V;ENSP00000438706:F97V	ENSP00000348582:F97V	F	-	1	0	TMF1	69180257	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.219000	0.72066	0.533000	0.62120	TTC	TMF1	-	NULL	ENSG00000144747		0.448	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	-	0	43	0	A	NM_007114		69097567	-1	tier1	-	no_errors	ENST00000543976	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	C	C	69097567	A	C	69097567	3	2	56	1	0	0	0	0	1	0	0	0	16275	72	3	4	3056	4	TMF1	3	69097567	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	12496857	69097567	128924863	43	13828											
ASTE1	28990	genome.wustl.edu	37	chr3	130743962	130743962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaaacagtgattcaaaGaatttttgtacaacatctgc	16	11	6	8	0	2	2	1	1	1	1	2	2	2	2	0	0	5	2	0	0	6	4	rs200808262		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:130743962G>T	ENST00000264992.3	-	3	630	c.189C>A	c.(187-189)ttC>ttA	p.F63L	NEK11_ENST00000356918.4_5'Flank|ASTE1_ENST00000514044.1_Missense_Mutation_p.F63L|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank|NEK11_ENST00000383366.4_5'Flank|NEK11_ENST00000507910.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000511262.1_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	63					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GTGATTCAAAGAATTTTTGTA	0.363																																																	0													90	83	85					3																	130743962		2203	4300	6503	SO:0001583	missense	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.189C>A	3.37:g.130743962G>T	ENSP00000264992:p.Phe63Leu		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N	p.F63L	ENST00000264992.3	37	c.189	CCDS3068.1	3	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317860	0.40996	.	.	ENSG00000034533	ENST00000514044;ENST00000264992;ENST00000446270	T;T	0.62498	0.02;0.02	5.44	2.56	0.30785	XPG N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.86953	2.85	0.44181	D	0.996995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76377	-0.2981	10	0.48119	T	0.1	-24.158	8.3714	0.32417	0.3474:0.0:0.6526:0.0	.	63;63	D6RG30;Q2TB18	.;ASTE1_HUMAN	L	63	ENSP00000426421:F63L;ENSP00000264992:F63L	ENSP00000264992:F63L	F	-	3	2	ASTE1	132226652	0.999000	0.42202	0.994000	0.49952	0.118000	0.20060	0.496000	0.22499	0.602000	0.29896	-0.145000	0.13849	TTC	ASTE1	-	pfam_XPG_DNA_repair_N	ENSG00000034533		0.363	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0	24	0	G	NM_014065		130743962	-1			no_errors	ENST00000264992	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	130743962	G	T	130743962	3	4	56	1	0	0	0	0	1	0	0	0	1063	933	33	3	1866	3	ASTE1	3	130743962	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	61646395	130743962	67278468	44	13829											
GPR87	53836	genome.wustl.edu	37	chr3	151012162	151012163	+	Frame_Shift_Ins	INS	-	-	T																															ttctttgcagtaatataggaINSttttttgtgcagattcatct																								rs375414416		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:151012162_151012163insT	ENST00000260843.4	-	3	1335_1336	c.871_872insA	c.(871-873)atcfs	p.I291fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	291					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAATATAGGATTTTTTGTGCA	0.347																																																	0																																										SO:0001589	frameshift_variant	0			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.872dupA	3.37:g.151012168_151012168dupT	ENSP00000260843:p.Ile291fs		Q5KU35|Q96JZ8|Q9BXC2	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.I291fs	ENST00000260843.4	37	c.872_871	CCDS3157.1	3																																																																																			GPR87	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000138271		0.347	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	HGNC	protein_coding	OTTHUMT00000357788.1		0	36	0	-			151012163	-1	tier1		no_errors	ENST00000260843	ensembl	human	known	74_37	frame_shift_ins	20.51	31	8	INS	0.996:0.996	T	T	151012163	-	T	151012162	7	5	56	1	0	1	1	0	0	0	0	0	6742	333	12	0	208	0	GPR87	3	151012162	Frame_Shift_Ins	INS	-	TCGA-L5-A4OG-01A-11D-A27G-09	20268200	151012162	47010268	45	13830											
GPR149	344758	genome.wustl.edu	37	chr3	154146547	154146547	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggttctcacgcctgcaggcTtcagccccagcggcagcggg	5	6	14	16	4	2	0	2	0	1	0	3	0	2	0	3	4	4	4	3	4	0	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr3:154146547T>C	ENST00000389740.2	-	1	957	c.858A>G	c.(856-858)gaA>gaG	p.E286E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	286					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCCTGCAGGCTTCAGCCCCAG	0.652																																																	0													43	46	45					3																	154146547		1917	4129	6046	SO:0001819	synonymous_variant	0			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.858A>G	3.37:g.154146547T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.E286	ENST00000389740.2	37	c.858	CCDS43162.1	3																																																																																			GPR149	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174948		0.652	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	-	0	25	0	T	XM_293580		154146547	-1	tier1	-	no_errors	ENST00000389740	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.001	C	C	154146547	T	C	154146547	2	2	56	1	0	0	0	0	0	0	0	1	6680	1606	56	4		4	GPR149	3	154146547	Silent	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	3134385	154146547	43875883	46	13831											
EVC2	132884	genome.wustl.edu	37	chr4	5617215	5617215	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcgatgcacttcttCagaagctctcccttgctttt	5	18	6	12	1	4	1	1	0	3	1	6	2	4	1	1	0	3	3	1	0	1	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr4:5617215C>A	ENST00000344408.5	-	16	2816	c.2763G>T	c.(2761-2763)ctG>ctT	p.L921L	EVC2_ENST00000310917.2_Silent_p.L841L|EVC2_ENST00000344938.1_Silent_p.L921L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	921					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGCACTTCTTCAGAAGCTCTC	0.502																																																	0													219	197	204					4																	5617215		2203	4300	6503	SO:0001819	synonymous_variant	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2763G>T	4.37:g.5617215C>A			Q86YT3|Q86YT4|Q8NG49	Silent	SNP	pfam_Limbin	p.L921	ENST00000344408.5	37	c.2763	CCDS3382.2	4																																																																																			EVC2	-	NULL	ENSG00000173040		0.502	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0	66	0	C	NM_147127		5617215	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	silent	11.76	45	6	SNP	0.965	A	A	5617215	C	A	5617215	2	1	56	1	0	0	0	0	0	0	0	1	5302	813	29	3		3	EVC2	4	5617215	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		5617215	185537061	47	13832											
BOD1L	259282	genome.wustl.edu	37	chr4	13602210	13602210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttactctggtaccttccAtattttcttcagttctcaga	7	18	6	10	0	4	1	2	0	3	1	6	1	5	1	2	2	2	3	2	2	3	8			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr4:13602210A>G	ENST00000040738.5	-	10	6449	c.6314T>C	c.(6313-6315)aTg>aCg	p.M2105T		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2105						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGTACCTTCCATATTTTCTTC	0.468																																																	0													64	61	62					4																	13602210		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6314T>C	4.37:g.13602210A>G	ENSP00000040738:p.Met2105Thr		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.M2105T	ENST00000040738.5	37	c.6314	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	A	8.164	0.790278	0.16258	.	.	ENSG00000038219	ENST00000040738	T	0.06142	3.34	5.5	-10.8	0.00216	.	2.561000	0.01213	N	0.007880	T	0.03305	0.0096	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37009	-0.9724	10	0.13853	T	0.58	0.105	5.7496	0.18140	0.1237:0.3573:0.4228:0.0961	.	2105	Q8NFC6	BOD1L_HUMAN	T	2105	ENSP00000040738:M2105T	ENSP00000040738:M2105T	M	-	2	0	BOD1L	13211308	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.216000	0.00554	-1.323000	0.02275	0.454000	0.30748	ATG	BOD1L1	-	NULL	ENSG00000038219		0.468	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	33	0	A	NM_148894		13602210	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	53.33	14	16	SNP	0.000	G	G	13602210	A	G	13602210	3	3	56	1	0	0	0	0	1	0	0	0	1485	217	8	4	2909	4	BOD1L	4	13602210	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	7984995	13602210	177552066	48	13833											
EMCN	51705	genome.wustl.edu	37	chr4	101439059	101439059	+	Missense_Mutation	SNP	G	G	T																															aagaaaaagaatggtcacttGaagcagttccatggtgcccg																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr4:101439059G>T	ENST00000296420.4	-	1	191	c.13C>A	c.(13-15)Caa>Aaa	p.Q5K	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.Q5K|EMCN_ENST00000511970.1_Missense_Mutation_p.Q5K	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	5						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		ATGGTCACTTGAAGCAGTTCC	0.463																																																	0													216	199	205					4																	101439059		2203	4300	6503	SO:0001583	missense	0			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.13C>A	4.37:g.101439059G>T	ENSP00000296420:p.Gln5Lys		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	pfam_Endomucin	p.Q5K	ENST00000296420.4	37	c.13	CCDS3655.1	4	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903626	0.17760	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000511970;ENST00000502569	.	.	.	5.36	3.57	0.40892	.	0.532850	0.14523	N	0.314307	T	0.29914	0.0748	L	0.29908	0.895	0.09310	N	1	B;B;B	0.32350	0.366;0.263;0.263	B;B;B	0.35240	0.198;0.111;0.111	T	0.17349	-1.0372	9	0.13108	T	0.6	-1.1714	9.9627	0.41706	0.0:0.3575:0.5113:0.1312	.	5;5;5	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	K	5	.	ENSP00000296420:Q5K	Q	-	1	0	EMCN	101658082	0.043000	0.20138	0.024000	0.17045	0.155000	0.21991	1.052000	0.30429	0.704000	0.31869	-0.182000	0.12963	CAA	EMCN	-	pfam_Endomucin	ENSG00000164035		0.463	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	HGNC	protein_coding	OTTHUMT00000253699.2	-	0	66	0	G	NM_016242		101439059	-1	tier1	-	no_errors	ENST00000296420	ensembl	human	known	74_37	missense	25.00	36	12	SNP	0.036	T	T	101439059	G	T	101439059	3	4	56	1	0	0	0	0	1	0	0	0	5102	1299	45	3	816	3	EMCN	4	101439059	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	87836849	101439059	89715217	49	13834	53	2									
EMCN	51705	genome.wustl.edu	37	chr4	101439061	101439061	+	Missense_Mutation	SNP	A	A	C																															gaaaaagaatggtcacttgaAgcagttccatggtgcccgta																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr4:101439061A>C	ENST00000296420.4	-	1	189	c.11T>G	c.(10-12)cTt>cGt	p.L4R	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.L4R|EMCN_ENST00000511970.1_Missense_Mutation_p.L4R	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	4						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GGTCACTTGAAGCAGTTCCAT	0.468																																																	0													211	195	200					4																	101439061		2203	4300	6503	SO:0001583	missense	0			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"Mucins"	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.11T>G	4.37:g.101439061A>C	ENSP00000296420:p.Leu4Arg		A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Missense_Mutation	SNP	pfam_Endomucin	p.L4R	ENST00000296420.4	37	c.11	CCDS3655.1	4	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296709	0.40594	.	.	ENSG00000164035	ENST00000296420;ENST00000305864;ENST00000511970;ENST00000502569	.	.	.	5.03	3.86	0.44501	.	0.324362	0.18094	N	0.151883	T	0.49372	0.1553	L	0.29908	0.895	0.09310	N	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.995;0.992	T	0.33599	-0.9862	9	0.87932	D	0	-6.6276	9.3861	0.38345	0.9189:0.0:0.0811:0.0	.	4;4;4	Q9ULC0-2;B4E347;Q9ULC0	.;.;MUCEN_HUMAN	R	4	.	ENSP00000296420:L4R	L	-	2	0	EMCN	101658084	0.449000	0.25689	0.049000	0.19019	0.180000	0.23129	2.384000	0.44362	0.882000	0.36016	0.533000	0.62120	CTT	EMCN	-	pfam_Endomucin	ENSG00000164035		0.468	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	HGNC	protein_coding	OTTHUMT00000253699.2	-	0	66	0	A	NM_016242		101439061	-1	tier1	-	no_errors	ENST00000296420	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.168	C	C	101439061	A	C	101439061	3	2	56	1	0	0	0	0	1	0	0	0	5102	72	3	4	818	4	EMCN	4	101439061	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	2	101439061	89715215	50	13835	53	2									
SMARCA5	8467	genome.wustl.edu	37	chr4	144457812	144457812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggttttagacaagctgctCcctaagttaaaagaacaagg	14	10	10	7	0	0	2	0	0	0	2	1	2	1	2	1	2	3	4	1	2	7	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr4:144457812C>T	ENST00000283131.3	+	11	1938	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	492	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACAAGCTGCTCCCTAAGTTAA	0.373																																																	0													90	84	86					4																	144457812		2203	4300	6503	SO:0001819	synonymous_variant	0			AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.1476C>T	4.37:g.144457812C>T				Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L492	ENST00000283131.3	37	c.1476	CCDS3761.1	4																																																																																			SMARCA5	-	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000153147		0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCA5	HGNC	protein_coding	OTTHUMT00000365077.3		0	19	0	C			144457812	1			no_errors	ENST00000283131	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.777	T	T	144457812	C	T	144457812	2	4	56	1	0	0	0	0	0	0	0	1	14816	842	30	3		3	SMARCA5	4	144457812	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	43018751	144457812	46696464	51	13836											
FST	10468	genome.wustl.edu	37	chr5	52779522	52779522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtaaagagcagccagaaCtggaagtccagtaccaaggc	15	5	12	9	0	0	2	0	0	0	2	1	4	1	3	3	2	4	3	3	2	6	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:52779522C>T	ENST00000256759.3	+	3	849	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	FST_ENST00000396947.3_Silent_p.L156L	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	156	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GCAGCCAGAACTGGAAGTCCA	0.507																																																	0													61	57	58					5																	52779522		2203	4300	6503	SO:0001819	synonymous_variant	0			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.466C>T	5.37:g.52779522C>T			B5BU94|Q9BTH0	Silent	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom	p.L156	ENST00000256759.3	37	c.466	CCDS3959.1	5																																																																																			FST	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000134363		0.507	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FST	HGNC	protein_coding	OTTHUMT00000253906.1	-	0	36	0	C	NM_013409		52779522	1	tier1	-	no_errors	ENST00000256759	ensembl	human	known	74_37	silent	20.00	16	4	SNP	1.000	T	T	52779522	C	T	52779522	2	4	56	1	0	0	0	0	0	0	0	1	6100	564	20	3		3	FST	5	52779522	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		52779522	128135738	52	13837											
PCDHAC1	56135	genome.wustl.edu	37	chr5	140308191	140308191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtggaaattgtgcccCgctctgccaggactggacac	8	8	11	14	1	1	0	0	0	1	0	2	3	2	3	4	3	2	1	4	3	1	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:140308191C>T	ENST00000253807.2	+	1	1714	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R572C|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	572	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGTGCCCCGCTCTGCCAG	0.488																																																	0													112	117	115					5																	140308191		2203	4300	6503	SO:0001583	missense	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1714C>T	5.37:g.140308191C>T	ENSP00000253807:p.Arg572Cys		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R572C	ENST00000253807.2	37	c.1714	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725935	0.48833	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.51574	0.7;0.7	5.95	3.15	0.36227	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.70098	0.3185	M	0.90145	3.09	0.29521	N	0.853482	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.65162	-0.6235	9	0.87932	D	0	.	6.6807	0.23119	0.1207:0.6952:0.0:0.1841	.	572;572	Q9H158;Q9H158-2	PCDC1_HUMAN;.	C	572	ENSP00000386356:R572C;ENSP00000253807:R572C	ENSP00000253807:R572C	R	+	1	0	PCDHAC1	140288375	0.000000	0.05858	0.993000	0.49108	0.990000	0.78478	-0.364000	0.07583	0.366000	0.24427	0.563000	0.77884	CGC	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000248383		0.488	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1		0	23	0	C	NM_018898		140308191	1			no_errors	ENST00000253807	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.956	T	T	140308191	C	T	140308191	3	4	56	1	0	0	0	0	1	0	0	0	11571	652	23	1	1716	1	PCDHAC1	5	140308191	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	87528669	140308191	40607069	53	13838											
PCDHB8	56128	genome.wustl.edu	37	chr5	140558400	140558400	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtccaataagcttcctggTtgtgaaggtctctgccacgg	8	11	11	11	1	1	1	0	1	1	0	4	1	3	1	3	3	2	2	3	3	3	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:140558400T>C	ENST00000239444.2	+	1	1030	c.785T>C	c.(784-786)gTt>gCt	p.V262A	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	262	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTTCCTGGTTGTGAAGGTC	0.438																																																	0													201	267	245					5																	140558400		2203	4300	6503	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.785T>C	5.37:g.140558400T>C	ENSP00000239444:p.Val262Ala		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V262A	ENST00000239444.2	37	c.785	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861468	0.32884	.	.	ENSG00000120322	ENST00000239444	T	0.68331	-0.32	4.25	4.25	0.50352	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81250	0.4783	M	0.93808	3.46	0.09310	N	1	P	0.46512	0.879	P	0.50708	0.648	T	0.75631	-0.3251	9	0.72032	D	0.01	.	13.0458	0.58925	0.0:0.0:0.0:1.0	.	262	Q9UN66	PCDB8_HUMAN	A	262	ENSP00000239444:V262A	ENSP00000239444:V262A	V	+	2	0	PCDHB8	140538584	0.983000	0.35010	0.001000	0.08648	0.028000	0.11728	7.997000	0.88414	1.558000	0.49541	0.477000	0.44152	GTT	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000120322		0.438	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	161	0	T	NM_019120		140558400	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	13.28	111	17	SNP	0.075	C	C	140558400	T	C	140558400	3	2	56	1	0	0	0	0	1	0	0	0	11587	1725	60	4	787	4	PCDHB8	5	140558400	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	250209	140558400	40356860	54	13839											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559730	140559730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgctcttcctcttctcGgtgctcctgttcgtggcggt	0	17	10	14	4	4	0	0	0	4	0	9	0	6	0	2	3	1	3	2	3	0	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:140559730G>A	ENST00000239444.2	+	1	2360	c.2115G>A	c.(2113-2115)tcG>tcA	p.S705S	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	705					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTCTCGGTGCTCCTGT	0.677																																																	0													98	97	98					5																	140559730		2202	4298	6500	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2115G>A	5.37:g.140559730G>A			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S705	ENST00000239444.2	37	c.2115	CCDS4250.1	5																																																																																			PCDHB8	-	NULL	ENSG00000120322		0.677	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	175	0	G	NM_019120		140559730	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	silent	28.37	101	40	SNP	0.021	A	A	140559730	G	A	140559730	2	1	56	1	0	0	0	0	0	0	0	1	11587	1103	39	1		1	PCDHB8	5	140559730	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1330	140559730	40355530	55	13840											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140725857	140725857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgggctttcctgcagaccTattcccacgaggtctccctc	5	12	8	16	2	1	1	0	0	1	1	6	2	3	1	4	2	1	2	4	2	1	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:140725857T>C	ENST00000253812.6	+	1	2257	c.2257T>C	c.(2257-2259)Tat>Cat	p.Y753H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	753					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCAGACCTATTCCCACGA	0.642																																																	0													56	67	63					5																	140725857		2203	4298	6501	SO:0001583	missense	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2257T>C	5.37:g.140725857T>C	ENSP00000253812:p.Tyr753His		Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y753H	ENST00000253812.6	37	c.2257	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	25.3	4.625947	0.87560	.	.	ENSG00000254245	ENST00000253812	T	0.51071	0.72	5.33	5.33	0.75918	.	0.000000	0.30752	U	0.008958	T	0.63780	0.2540	M	0.89095	3.005	0.27312	N	0.957277	P;P	0.46621	0.681;0.881	P;P	0.48304	0.573;0.56	T	0.66614	-0.5879	10	0.62326	D	0.03	.	15.2573	0.73596	0.0:0.0:0.0:1.0	.	753;753	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	H	753	ENSP00000253812:Y753H	ENSP00000253812:Y753H	Y	+	1	0	PCDHGA3	140706041	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.306000	0.51881	2.142000	0.66516	0.460000	0.39030	TAT	PCDHGA3	-	NULL	ENSG00000254245		0.642	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	82	0	T	NM_018916		140725857	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	C	C	140725857	T	C	140725857	3	2	56	1	0	0	0	0	1	0	0	0	11594	1522	53	4	2259	4	PCDHGA3	5	140725857	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	166127	140725857	40189403	56	13841											
SLC36A3	285641	genome.wustl.edu	37	chr5	150657079	150657079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaatcatgatgtccttggCaatggtgacacagctcatgt	10	12	10	9	0	2	2	2	2	0	0	3	2	3	2	1	2	1	3	1	2	2	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:150657079C>T	ENST00000335230.3	-	10	1699	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A471T	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	430						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCCTTGGCAATGGTGACA	0.537																																																	0													131	116	121					5																	150657079		2203	4300	6503	SO:0001583	missense	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"Solute carriers"	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1288G>A	5.37:g.150657079C>T	ENSP00000334750:p.Ala430Thr		Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A471T	ENST00000335230.3	37	c.1411	CCDS4314.1	5	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780824	0.49891	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02323	4.34;4.34	4.69	2.87	0.33458	.	0.889964	0.09930	N	0.737317	T	0.02342	0.0072	N	0.17800	0.525	0.34006	D	0.650843	B;B;B	0.19445	0.018;0.011;0.036	B;B;B	0.25614	0.025;0.062;0.036	T	0.32877	-0.9890	10	0.20046	T	0.44	.	6.6203	0.22800	0.1539:0.6982:0.0:0.1479	.	471;430;415	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	T	430;471	ENSP00000334750:A430T;ENSP00000366942:A471T	ENSP00000334750:A430T	A	-	1	0	SLC36A3	150637272	0.054000	0.20591	0.966000	0.40874	0.918000	0.54935	0.785000	0.26830	1.306000	0.44926	0.655000	0.94253	GCC	SLC36A3	-	pfam_AA_transpt_TM	ENSG00000186334		0.537	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1	-	0	58	0	C	NM_181774		150657079	-1	tier1	-	no_errors	ENST00000377713	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.979	T	T	150657079	C	T	150657079	3	4	56	1	0	0	0	0	1	0	0	0	14640	710	25	3	128	3	SLC36A3	5	150657079	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	9931222	150657079	30258181	57	13842											
ITK	3702	genome.wustl.edu	37	chr5	156607998	156607998	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaactggatcatgaacaacTttatcctcctggaagaacag	15	9	8	9	0	1	3	1	1	0	2	3	5	3	5	2	2	4	0	2	2	6	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:156607998T>G	ENST00000422843.3	+	1	162	c.10T>G	c.(10-12)Ttt>Gtt	p.F4V		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	4	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CATGAACAACTTTATCCTCCT	0.443			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													85	79	81					5																	156607998		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.10T>G	5.37:g.156607998T>G	ENSP00000398655:p.Phe4Val		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.F4V	ENST00000422843.3	37	c.10	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	T	9.352	1.065659	0.20067	.	.	ENSG00000113263	ENST00000422843	T	0.74002	-0.8	5.27	4.12	0.48240	Pleckstrin homology domain (1);	0.468333	0.24833	N	0.035234	T	0.55465	0.1922	N	0.14661	0.345	0.38073	D	0.936442	B	0.09022	0.002	B	0.08055	0.003	T	0.51116	-0.8746	10	0.31617	T	0.26	.	9.624	0.39739	0.0:0.0789:0.0:0.9211	.	4	Q08881	ITK_HUMAN	V	4	ENSP00000398655:F4V	ENSP00000398655:F4V	F	+	1	0	ITK	156540576	0.998000	0.40836	0.969000	0.41365	0.993000	0.82548	2.426000	0.44731	0.960000	0.38005	0.533000	0.62120	TTT	ITK	-	pfscan_Pleckstrin_homology	ENSG00000113263		0.443	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	38	0	T			156607998	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.987	G	G	156607998	T	G	156607998	3	3	56	1	0	0	0	0	1	0	0	0	7936	1609	56	4	12	4	ITK	5	156607998	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	5950919	156607998	24307262	58	13843											
ZFP2	80108	genome.wustl.edu	37	chr5	178359071	178359071	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtggaaaagccttcagtCaaagcatgcatcttattgta	14	12	8	7	0	3	0	2	0	1	0	3	1	3	1	1	1	3	3	1	1	6	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr5:178359071C>T	ENST00000361362.2	+	5	1287	c.757C>T	c.(757-759)Caa>Taa	p.Q253*	ZFP2_ENST00000503510.2_Nonsense_Mutation_p.Q253*|ZFP2_ENST00000523286.1_Nonsense_Mutation_p.Q253*|ZFP2_ENST00000520301.1_Nonsense_Mutation_p.Q253*	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		AGCCTTCAGTCAAAGCATGCA	0.383																																																	0													67	69	69					5																	178359071		2203	4300	6503	SO:0001587	stop_gained	0			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"Zinc fingers, C2H2-type"	26138	protein-coding gene	gene with protein product			"zinc finger protein 2 homolog (mouse)"				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.757C>T	5.37:g.178359071C>T	ENSP00000354453:p.Gln253*		A5PLN5|B7ZM23|Q9H6Z6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q253*	ENST00000361362.2	37	c.757	CCDS4440.1	5	.	.	.	.	.	.	.	.	.	.	c	36	5.604889	0.96626	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	.	.	.	4.67	3.78	0.43462	.	0.000000	0.31188	N	0.008090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.1249	6.6882	0.23156	0.0:0.7213:0.1808:0.0979	.	.	.	.	X	253	.	ENSP00000354453:Q253X	Q	+	1	0	ZFP2	178291677	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.818000	0.04467	2.408000	0.81797	0.650000	0.86243	CAA	ZFP2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198939		0.383	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP2	HGNC	protein_coding	OTTHUMT00000253470.2	-	0	46	0	C	NM_030613		178359071	1	tier1	-	no_errors	ENST00000361362	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	0.529	T	T	178359071	C	T	178359071	4	4	56	1	0	0	0	0	0	1	0	0	17689	827	29	3	759	3	ZFP2	5	178359071	Nonsense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	21751073	178359071	2556189	59	13844											
GPLD1	2822	genome.wustl.edu	37	chr6	24450083	24450083	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaggcacgccgtccacGttaaagtccaacacagccaa	13	5	9	14	3	1	0	1	0	0	0	3	0	3	0	4	2	2	2	4	2	4	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:24450083G>A	ENST00000230036.1	-	15	1490	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	460					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CGCCGTCCACGTTAAAGTCCA	0.607																																																	0													114	106	108					6																	24450083		2203	4300	6503	SO:0001819	synonymous_variant	0			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.1380C>T	6.37:g.24450083G>A			Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Silent	SNP	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.N460	ENST00000230036.1	37	c.1380	CCDS4553.1	6																																																																																			GPLD1	-	pfam_FG-GAP,smart_Int_alpha_beta-p	ENSG00000112293		0.607	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	HGNC	protein_coding	OTTHUMT00000043315.1	-	0	56	0	G	NM_001503		24450083	-1	tier1	-	no_errors	ENST00000230036	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.733	A	A	24450083	G	A	24450083	2	1	56	1	0	0	0	0	0	0	0	1	6640	1136	40	1		1	GPLD1	6	24450083	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		24450083	146664984	60	13845											
PBX2	5089	genome.wustl.edu	37	chr6	32157563	32157563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccctcggcctcccgggaCccccccgctacccccaccgg	3	5	8	25	4	0	0	0	0	0	0	3	1	2	1	9	3	1	1	9	3	1	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:32157563C>T	ENST00000375050.4	-	1	400	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711																																																	2	Substitution - Missense(2)	prostate(1)|lung(1)											29	31	30					6																	32157563		1509	2708	4217	SO:0001583	missense	0				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"Homeoboxes / TALE class"	8633	protein-coding gene	gene with protein product		176311	"pre-B-cell leukemia transcription factor 2"			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.130G>A	6.37:g.32157563C>T	ENSP00000364190:p.Val44Ile		A2BFJ2	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.V44I	ENST00000375050.4	37	c.130	CCDS4748.1	6	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450951	0.63290	.	.	ENSG00000204304	ENST00000375050	D	0.82344	-1.6	4.56	4.56	0.56223	.	0.219742	0.22684	N	0.056918	T	0.52741	0.1753	N	0.14661	0.345	0.30447	N	0.775643	B;B	0.21071	0.051;0.028	B;B	0.09377	0.004;0.004	T	0.46965	-0.9153	10	0.37606	T	0.19	-5.1027	10.8156	0.46573	0.0:0.8072:0.1928:0.0	.	44;44	Q7KZE5;P40425	.;PBX2_HUMAN	I	44	ENSP00000364190:V44I	ENSP00000364190:V44I	V	-	1	0	PBX2	32265541	0.974000	0.33945	1.000000	0.80357	0.971000	0.66376	1.692000	0.37731	2.062000	0.61559	0.542000	0.68232	GTC	PBX2	-	NULL	ENSG00000204304		0.711	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX2	HGNC	protein_coding	OTTHUMT00000076194.4		0	38	0	C			32157563	-1			no_errors	ENST00000375050	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	T	T	32157563	C	T	32157563	3	4	56	1	0	0	0	0	1	0	0	0	11532	507	18	3	1198	3	PBX2	6	32157563	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	7707480	32157563	138957504	61	13846											
MRPL2	51069	genome.wustl.edu	37	chr6	43024117	43024117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcctcaggccggaaaCgcagaaagtcaatcattcga	12	8	10	11	3	4	1	3	0	1	1	6	3	4	2	2	3	1	1	2	3	3	1	rs143952438		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:43024117C>T	ENST00000388752.3	-	3	756	c.332G>A	c.(331-333)cGt>cAt	p.R111H	CUL7_ENST00000535468.1_5'Flank|MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.R111H|CUL7_ENST00000265348.3_5'Flank	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	111					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		AGGCCGGAAACGCAGAAAGTC	0.522																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107	94	98		332	5.6	1	6	dbSNP_134	98	0,8600		0,0,4300	no	missense	MRPL2	NM_015950.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	111/306	43024117	1,13005	2203	4300	6503	SO:0001583	missense	0			AB051617	CCDS34454.1, CCDS75458.1	6p21.3	2012-09-13			ENSG00000112651	ENSG00000112651		"Mitochondrial ribosomal proteins / large subunits"	14056	protein-coding gene	gene with protein product		611822					Standard	XM_005249161		Approved	MRP-L14, RPML14, CGI-22	uc003ots.1	Q5T653	OTTHUMG00000014719	ENST00000388752.3:c.332G>A	6.37:g.43024117C>T	ENSP00000373404:p.Arg111His		B2RC56|Q8WUL1|Q96Q56|Q9Y311	Missense_Mutation	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold	p.R111H	ENST00000388752.3	37	c.332	CCDS34454.1	6	.	.	.	.	.	.	.	.	.	.	c	33	5.218500	0.95104	2.27E-4	0.0	ENSG00000112651	ENST00000388752;ENST00000230413	T	0.69306	-0.39	5.64	5.64	0.86602	Nucleic acid-binding, OB-fold-like (1);Ribosomal Proteins L2, RNA binding domain (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.964	D	0.89771	0.3954	10	0.87932	D	0	-14.6838	17.8827	0.88845	0.0:1.0:0.0:0.0	.	111;111	B4DVE2;Q5T653	.;RM02_HUMAN	H	111	ENSP00000373404:R111H	ENSP00000230413:R111H	R	-	2	0	MRPL2	43132095	1.000000	0.71417	0.986000	0.45419	0.915000	0.54546	7.360000	0.79487	2.658000	0.90341	0.651000	0.88453	CGT	MRPL2	-	pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_NA-bd_OB-fold	ENSG00000112651		0.522	MRPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL2	HGNC	protein_coding	OTTHUMT00000040577.2	-	0	76	0	C			43024117	-1	tier1	rs143952438	no_errors	ENST00000388752	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.998	T	T	43024117	C	T	43024117	3	4	56	1	0	0	0	0	1	0	0	0	9823	536	19	1	605	1	MRPL2	6	43024117	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	10866554	43024117	128090950	62	13847											
EYS	346007	genome.wustl.edu	37	chr6	65300261	65300261	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttggaccattctgaagaAgtcttgacctcttttttaag	10	16	7	8	0	3	3	0	2	3	1	3	4	3	4	2	1	0	0	2	1	3	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:65300261A>G	ENST00000370621.3	-	26	6025	c.5499T>C	c.(5497-5499)acT>acC	p.T1833T	EYS_ENST00000503581.1_Silent_p.T1833T|EYS_ENST00000370616.2_Silent_p.T1833T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1833					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCTGAAGAAGTCTTGACCT	0.418																																																	0													122	110	114					6																	65300261		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.5499T>C	6.37:g.65300261A>G			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T1833	ENST00000370621.3	37	c.5499		6																																																																																			EYS	-	NULL	ENSG00000188107		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	25	0	A	XM_294050		65300261	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.000	G	G	65300261	A	G	65300261	2	3	56	1	0	0	0	0	0	0	0	1	5348	59	3	4		4	EYS	6	65300261	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	22276144	65300261	105814806	63	13848											
SNAP91	9892	genome.wustl.edu	37	chr6	84302714	84302714	+	Frame_Shift_Del	DEL	T	T	-																															tcaggcacaggagaggccccTtgtggtggagaggagaaagc																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:84302714delT	ENST00000439399.2	-	20	2113	c.1797delA	c.(1795-1797)caafs	p.Q599fs	SNAP91_ENST00000195649.6_Frame_Shift_Del_p.Q599fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.Q597fs|SNAP91_ENST00000428679.2_Frame_Shift_Del_p.Q599fs|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.Q599fs|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.Q599fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.Q599fs	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	599					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAGAGGCCCCTTGTGGTGGAG	0.443																																																	0													45	46	46					6																	84302714		1891	4127	6018	SO:0001589	frameshift_variant	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1797delA	6.37:g.84302714delT	ENSP00000400459:p.Gln599fs		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Del	DEL	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.A601fs	ENST00000439399.2	37	c.1797	CCDS47455.1	6																																																																																			SNAP91	-	NULL	ENSG00000065609		0.443	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1		0	8	0	T			84302714	-1			no_errors	ENST00000369694	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.992	0	-	84302714	T	-	84302714	7	5	56	1	0	1	0	1	0	0	0	0	14878	1606	56	0	966	0	SNAP91	6	84302714	Frame_Shift_Del	DEL	T	TCGA-L5-A4OG-01A-11D-A27G-09	19002453	84302714	86812353	64	13849											
EPHA7	2045	genome.wustl.edu	37	chr6	93982021	93982021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttagcacttactttctCgtaatacttgatttcatatt	9	19	4	9	1	3	1	1	1	2	0	4	1	3	1	0	0	3	3	0	0	5	9			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:93982021C>T	ENST00000369303.4	-	6	1628	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	482	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTTACTTTCTCGTAATACTTG	0.418																																																	0													303	271	282					6																	93982021		2203	4300	6503	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1444G>A	6.37:g.93982021C>T	ENSP00000358309:p.Glu482Lys		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E482K	ENST00000369303.4	37	c.1444	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391446	0.83011	.	.	ENSG00000135333	ENST00000369303	T	0.57595	0.39	5.49	5.49	0.81192	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	M	0.77406	2.37	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.999	D;D;D	0.70935	0.956;0.95;0.971	T	0.68002	-0.5524	10	0.45353	T	0.12	.	19.7279	0.96172	0.0:1.0:0.0:0.0	.	482;482;482	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	482	ENSP00000358309:E482K	ENSP00000358309:E482K	E	-	1	0	EPHA7	94038742	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.677000	0.68142	2.750000	0.94351	0.561000	0.74099	GAG	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000135333		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	-	0	43	0	C			93982021	-1	tier1	-	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	T	T	93982021	C	T	93982021	3	4	56	1	0	0	0	0	1	0	0	0	5188	893	31	1	1600	1	EPHA7	6	93982021	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	9679307	93982021	77133046	65	13850											
SOBP	55084	genome.wustl.edu	37	chr6	107956647	107956647	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaaaaggaggtgcctcCgaattagaaatcagaataag	16	7	10	8	2	2	2	2	0	0	2	3	4	3	3	2	2	1	1	2	2	7	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:107956647C>T	ENST00000317357.5	+	6	3258	c.2599C>T	c.(2599-2601)Cga>Tga	p.R867*	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGTGCCTCCGAATTAGAAA	0.597																																																	0													43	50	48					6																	107956647		1946	4143	6089	SO:0001587	stop_gained	0			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2599C>T	6.37:g.107956647C>T	ENSP00000318900:p.Arg867*			Nonsense_Mutation	SNP	NULL	p.R867*	ENST00000317357.5	37	c.2599	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	47	13.441981	0.99742	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	.	.	.	5.38	5.38	0.77491	.	0.245175	0.24781	U	0.035642	.	.	.	.	.	.	0.52501	D	0.999959	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3472	19.1356	0.93426	0.0:1.0:0.0:0.0	.	.	.	.	X	867;262	.	ENSP00000230065:R262X	R	+	1	2	SOBP	108063340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.667000	0.68067	2.507000	0.84556	0.563000	0.77884	CGA	SOBP	-	NULL	ENSG00000112320		0.597	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	-	0	20	0	C	NM_018013		107956647	1	tier1	-	no_errors	ENST00000317357	ensembl	human	known	74_37	nonsense	42.86	16	12	SNP	1.000	T	T	107956647	C	T	107956647	4	4	56	1	0	0	0	0	0	1	0	0	14957	644	23	1	2621	1	SOBP	6	107956647	Nonsense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	13974626	107956647	63158420	66	13851											
CDK19	23097	genome.wustl.edu	37	chr6	110991738	110991738	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attagggtgcttcaattctcGcaaaagctgaatgcaaaaga	15	10	9	7	1	2	2	1	1	1	1	3	2	2	2	0	1	3	4	0	1	7	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:110991738G>A	ENST00000368911.3	-	3	390	c.211C>T	c.(211-213)Cga>Tga	p.R71*	CDK19_ENST00000323817.3_Nonsense_Mutation_p.R11*	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	71	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTCAATTCTCGCAAAAGCTGA	0.408																																																	0													67	57	60					6																	110991738		2203	4300	6503	SO:0001587	stop_gained	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"Cyclin-dependent kinases"	19338	protein-coding gene	gene with protein product		614720	"cyclin-dependent kinase (CDC2-like) 11", "cell division cycle 2-like 6 (CDK8-like)"	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.211C>T	6.37:g.110991738G>A	ENSP00000357907:p.Arg71*		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R71*	ENST00000368911.3	37	c.211	CCDS5085.1	6	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190798	0.78789	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000457688	.	.	.	4.67	3.7	0.42460	.	0.070846	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8406	13.2715	0.60164	0.0:0.0:0.7917:0.2083	.	.	.	.	X	71;11;10;11	.	ENSP00000317665:R11X	R	-	1	2	CDK19	111098431	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.010000	0.64004	0.978000	0.38470	0.644000	0.83932	CGA	CDK19	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000155111		0.408	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	-	0	56	0	G	NM_015076		110991738	-1	tier1	-	no_errors	ENST00000368911	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	1.000	A	A	110991738	G	A	110991738	4	1	56	1	0	0	0	0	0	1	0	0	3142	1095	38	1	1341	1	CDK19	6	110991738	Nonsense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	3035091	110991738	60123329	67	13852											
TPD52L1	7164	genome.wustl.edu	37	chr6	125569519	125569519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccatcagcaagaagttcGgagacatgaggtactgtggg	11	7	15	8	2	1	3	1	1	0	2	2	4	1	3	1	4	2	3	1	4	3	2	rs541032352		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:125569519G>A	ENST00000534000.1	+	4	672	c.376G>A	c.(376-378)Gga>Aga	p.G126R	HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000304877.13_Missense_Mutation_p.G126R|TPD52L1_ENST00000392482.2_Missense_Mutation_p.G97R|TPD52L1_ENST00000524679.1_Missense_Mutation_p.G97R|TPD52L1_ENST00000532429.1_Missense_Mutation_p.G97R|TPD52L1_ENST00000368388.2_Missense_Mutation_p.G126R|TPD52L1_ENST00000527711.1_Missense_Mutation_p.G126R|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000534199.1_Missense_Mutation_p.G97R|TPD52L1_ENST00000528193.1_Missense_Mutation_p.G126R|TPD52L1_ENST00000368402.5_Missense_Mutation_p.G126R	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	126					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CAAGAAGTTCGGAGACATGAG	0.483																																																	0													120	97	105					6																	125569519		2203	4300	6503	SO:0001583	missense	0			U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.376G>A	6.37:g.125569519G>A	ENSP00000434142:p.Gly126Arg		A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	pfam_TPD52	p.G126R	ENST00000534000.1	37	c.376	CCDS5130.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.066173	0.93898	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000368402;ENST00000368388;ENST00000527711;ENST00000528193;ENST00000532429;ENST00000534199;ENST00000392482;ENST00000524679;ENST00000392484	T;T;T;T;T;T;T;T;T;T	0.38887	1.81;1.11;1.11;1.81;1.81;1.11;1.81;1.81;1.81;1.81	5.58	5.58	0.84498	.	0.050818	0.85682	D	0.000000	T	0.64405	0.2595	M	0.82823	2.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.999;1.0	T	0.65240	-0.6216	9	.	.	.	-18.8095	19.5364	0.95255	0.0:0.0:1.0:0.0	.	126;126;126;126	E9PPQ1;Q16890-3;Q16890-2;Q16890	.;.;.;TPD53_HUMAN	R	126;126;126;126;126;126;97;97;97;97;126	ENSP00000306285:G126R;ENSP00000434142:G126R;ENSP00000357387:G126R;ENSP00000357373:G126R;ENSP00000436953:G126R;ENSP00000434743:G126R;ENSP00000435447:G97R;ENSP00000432590:G97R;ENSP00000376273:G97R;ENSP00000432787:G97R	.	G	+	1	0	TPD52L1	125611218	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.048000	0.89442	2.779000	0.95612	0.650000	0.86243	GGA	TPD52L1	-	pfam_TPD52	ENSG00000111907		0.483	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPD52L1	HGNC	protein_coding	OTTHUMT00000042065.2	-	0	20	0	G			125569519	1	tier1	-	no_errors	ENST00000534000	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	A	A	125569519	G	A	125569519	3	1	56	1	0	0	0	0	1	0	0	0	16446	1117	39	1	390	1	TPD52L1	6	125569519	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	14577781	125569519	45545548	68	13853											
SYNE1	23345	genome.wustl.edu	37	chr6	152676068	152676068	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctctggtgtgcagcactGagttcaacagggcctgcccc	6	9	11	15	0	2	1	1	1	1	0	3	1	2	1	4	2	4	3	4	2	1	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:152676068G>C	ENST00000367255.5	-	67	11253	c.10652C>G	c.(10651-10653)tCa>tGa	p.S3551*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.S3558*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.S3522*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.S3551*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.S3558*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3551					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGCAGCACTGAGTTCAACAG	0.537										HNSCC(10;0.0054)																																							0													123	125	124					6																	152676068		2203	4300	6503	SO:0001587	stop_gained	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10652C>G	6.37:g.152676068G>C	ENSP00000356224:p.Ser3551*		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S3551*	ENST00000367255.5	37	c.10652	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	55	24.264322	0.99959	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.	.	.	5.12	5.12	0.69794	.	0.421059	0.19749	N	0.106941	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.1049	0.86659	0.0:0.0:1.0:0.0	.	.	.	.	X	3551;3558;3551;3558;3522	.	ENSP00000265368:S3551X	S	-	2	0	SYNE1	152717761	1.000000	0.71417	0.129000	0.21949	0.943000	0.58893	6.152000	0.71812	2.535000	0.85469	0.561000	0.74099	TCA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.537	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	45	0	G	NM_182961		152676068	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	nonsense	15.79	32	6	SNP	0.957	C	C	152676068	G	C	152676068	4	2	56	1	0	0	0	0	0	1	0	0	15492	1294	45	5	16134	5	SYNE1	6	152676068	Nonsense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	27106549	152676068	18438999	69	13854											
MLLT4	4301	genome.wustl.edu	37	chr6	168347466	168347466	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aataattcaactcaaaatggGtctcctgagagtcctcagct	13	11	7	10	0	4	1	3	1	1	1	6	2	5	1	2	1	2	1	2	1	5	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr6:168347466G>T	ENST00000447894.2	+	26	3417	c.3417G>T	c.(3415-3417)ggG>ggT	p.G1139G	MLLT4_ENST00000344191.4_Silent_p.G1139G|MLLT4_ENST00000392108.3_Silent_p.G1139G|MLLT4_ENST00000366806.2_Silent_p.G1139G|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000392112.1_Silent_p.G1122G|MLLT4_ENST00000351017.4_Silent_p.G1146G|MLLT4_ENST00000400822.3_Silent_p.G1138G			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1139					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCAAAATGGGTCTCCTGAGA	0.443			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													106	117	114					6																	168347466		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3417G>T	6.37:g.168347466G>T			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.G1139	ENST00000447894.2	37	c.3417		6																																																																																			MLLT4	-	NULL	ENSG00000130396		0.443	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	-	0	61	0	G	NM_005936		168347466	1	tier1	-	no_errors	ENST00000366806	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.981	T	T	168347466	G	T	168347466	2	4	56	1	0	0	0	0	0	0	0	1	9667	1248	44	3		3	MLLT4	6	168347466	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	15671398	168347466	2767601	70	13855											
PMS2	5395	genome.wustl.edu	37	chr7	6017359	6017359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttactagttggcaaggAaatcagtttagccctttcag	10	15	9	7	0	2	0	2	0	0	0	2	1	2	1	1	2	2	4	1	2	5	8			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:6017359A>G	ENST00000265849.7	-	14	2410	c.2305T>C	c.(2305-2307)Tcc>Ccc	p.S769P	PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Missense_Mutation_p.S368P|PMS2_ENST00000441476.2_Missense_Mutation_p.S663P	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	769					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTTGGCAAGGAAATCAGTTTA	0.468			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													124	98	107					7																	6017359		2194	4285	6479	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.2305T>C	7.37:g.6017359A>G	ENSP00000265849:p.Ser769Pro		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.S769P	ENST00000265849.7	37	c.2305	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608438	0.87258	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000382321;ENST00000441476	T;T;T	0.78364	-1.17;-1.17;-1.17	5.75	5.75	0.90469	MutL, C-terminal, dimerisation (2);	0.000000	0.85682	D	0.000000	D	0.90553	0.7039	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.91635	0.994;0.986;0.999	D	0.92170	0.5743	10	0.54805	T	0.06	-10.4195	15.2333	0.73407	1.0:0.0:0.0:0.0	.	368;769;663	P54278-2;P54278;C9J167	.;PMS2_HUMAN;.	P	769;722;368;663	ENSP00000265849:S769P;ENSP00000371758:S368P;ENSP00000392843:S663P	ENSP00000265849:S769P	S	-	1	0	PMS2	5983885	1.000000	0.71417	0.994000	0.49952	0.978000	0.69477	8.953000	0.93041	2.202000	0.70862	0.448000	0.29417	TCC	PMS2	-	pfam_MutL_C,smart_MutL_C	ENSG00000122512		0.468	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	-	0	58	0	A	NM_000535		6017359	-1	tier1	-	no_errors	ENST00000265849	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	G	G	6017359	A	G	6017359	3	3	56	1	0	0	0	0	1	0	0	0	12182	246	9	4	291	4	PMS2	7	6017359	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09		6017359	153121304	71	13856											
RSPH10B	728194	genome.wustl.edu	37	chr7	6803595	6803595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcccgatgaaccacggcGtgtacacgtggccggacggc	8	6	14	13	6	0	1	0	1	0	0	1	3	1	2	3	4	2	1	3	4	2	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:6803595G>A	ENST00000403107.1	+	5	823	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	RSPH10B2_ENST00000433859.2_Missense_Mutation_p.V146M|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000463354.2_3'UTR|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.V146M|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.V146M			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	146										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GAACCACGGCGTGTACACGTG	0.592																																																	0													26	23	24					7																	6803595		2195	4277	6472	SO:0001583	missense	0				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.436G>A	7.37:g.6803595G>A	ENSP00000384766:p.Val146Met		A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.V146M	ENST00000403107.1	37	c.436	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	G	5.555	0.287317	0.10513	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859;ENST00000540958	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	3.61	-4.14	0.03892	.	1.935030	0.02710	N	0.112725	T	0.44371	0.1290	L	0.41236	1.265	0.09310	N	0.999993	P	0.36110	0.537	B	0.28011	0.085	T	0.38001	-0.9681	10	0.31617	T	0.26	.	10.8707	0.46881	0.7932:0.0:0.2068:0.0	.	146	B2RC85	R10B2_HUMAN	M	146;146;146;146;5	ENSP00000384766:V146M;ENSP00000386102:V146M;ENSP00000297186:V146M;ENSP00000416710:V146M	ENSP00000297186:V146M	V	+	1	0	RSPH10B2	6770120	0.000000	0.05858	0.001000	0.08648	0.311000	0.27955	-0.536000	0.06135	-0.816000	0.04340	-0.568000	0.04159	GTG	RSPH10B2	-	pfam_MORN,smart_MORN	ENSG00000169402		0.592	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4		0	70	0	G	NM_001099697		6803595	1			no_errors	ENST00000297186	ensembl	human	known	74_37	missense	9.59	66	7	SNP	0.000	A	A	6803595	G	A	6803595	3	1	56	1	0	0	0	0	1	0	0	0	13748	1145	40	1	3139	1	RSPH10B	7	6803595	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	786236	6803595	152335068	72	13857											
TXNDC3	51314	genome.wustl.edu	37	chr7	37924817	37924817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaacaattactgggaccaAgaactgttgaagaagccatt	16	8	10	7	0	0	3	0	1	0	2	0	5	0	5	2	2	4	1	2	2	7	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:37924817A>G	ENST00000199447.4	+	14	1582	c.1210A>G	c.(1210-1212)Aga>Gga	p.R404G	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.R404G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	404	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ACTGGGACCAAGAACTGTTGA	0.383																																																	0													90	81	84					7																	37924817		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1210A>G	7.37:g.37924817A>G	ENSP00000199447:p.Arg404Gly		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.R404G	ENST00000199447.4	37	c.1210	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	4.507	0.094001	0.08632	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.54675	0.56;0.56	3.69	3.69	0.42338	.	1.583150	0.03545	N	0.224498	T	0.33469	0.0864	N	0.03608	-0.345	0.19300	N	0.999973	B	0.02656	0.0	B	0.06405	0.002	T	0.12293	-1.0553	10	0.29301	T	0.29	-0.3598	10.7015	0.45931	1.0:0.0:0.0:0.0	.	404	Q8N427	TXND3_HUMAN	G	404	ENSP00000199447:R404G;ENSP00000397063:R404G	ENSP00000199447:R404G	R	+	1	2	TXNDC3	37891342	0.976000	0.34144	0.753000	0.31225	0.043000	0.13939	2.542000	0.45744	1.905000	0.55150	0.460000	0.39030	AGA	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.383	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	122	0	A	NM_016616		37924817	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	16.67	95	19	SNP	0.898	G	G	37924817	A	G	37924817	3	3	56	1	0	0	0	0	1	0	0	0	16847	64	3	4	1256	4	TXNDC3	7	37924817	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	31121222	37924817	121213846	73	13858											
CYP3A5	1577	genome.wustl.edu	37	chr7	99273804	99273804	+	Frame_Shift_Del	DEL	A	A	-																															cctggaattcccagtctcttAaaaagtccatgtgtacgggt																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:99273804delA	ENST00000222982.4	-	2	198	c.99delT	c.(97-99)tttfs	p.F33fs	CYP3A5_ENST00000439761.1_Frame_Shift_Del_p.F33fs|CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000343703.5_Frame_Shift_Del_p.F23fs	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	33					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCAGTCTCTTAAAAAGTCCAT	0.453																																																	0													114	103	107					7																	99273804		2203	4300	6503	SO:0001589	frameshift_variant	0			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"Cytochrome P450s"	2638	protein-coding gene	gene with protein product		605325	"cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.99delT	7.37:g.99273804delA	ENSP00000222982:p.Phe33fs		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.F33fs	ENST00000222982.4	37	c.99	CCDS5672.1	7																																																																																			CYP3A5	-	NULL	ENSG00000106258		0.453	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1		0	48	0	A			99273804	-1	tier1		no_errors	ENST00000222982	ensembl	human	known	74_37	frame_shift_del	12.90	54	8	DEL	0.750	-	-	99273804	A	-	99273804	7	5	56	1	0	1	0	1	0	0	0	0	4189	359	13	0	1457	0	CYP3A5	7	99273804	Frame_Shift_Del	DEL	A	TCGA-L5-A4OG-01A-11D-A27G-09	61348987	99273804	59864859	74	13859											
GIGYF1	64599	genome.wustl.edu	37	chr7	100282217	100282217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctggaaccactctgcCatctcctgtgtcgtgaaggg	6	9	12	14	2	2	1	0	1	2	0	4	2	2	2	5	3	2	0	5	3	2	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:100282217C>T	ENST00000275732.5	-	13	2694	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	495	GYF. {ECO:0000255|PROSITE- ProRule:PRU00101}.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					ACCACTCTGCCATCTCCTGTG	0.622																																																	0													77	88	85					7																	100282217		2203	4300	6503	SO:0001583	missense	0			AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"GYF domain containing 1"	612064	"PERQ amino acid rich, with GYF domain 1"	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1485G>A	7.37:g.100282217C>T	ENSP00000275732:p.Met495Ile		Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.M495I	ENST00000275732.5	37	c.1485	CCDS34708.1	7	.	.	.	.	.	.	.	.	.	.	.	22.9	4.351180	0.82132	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.91521	-2.86	5.07	5.07	0.68467	GYF (4);	0.000000	0.85682	D	0.000000	D	0.94761	0.8309	M	0.77616	2.38	0.80722	D	1	D	0.62365	0.991	D	0.67548	0.952	D	0.94753	0.7929	10	0.56958	D	0.05	-19.5101	15.9811	0.80111	0.0:1.0:0.0:0.0	.	495	O75420	PERQ1_HUMAN	I	214;495	ENSP00000275732:M495I	ENSP00000275732:M495I	M	-	3	0	GIGYF1	100120153	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	7.651000	0.83577	2.641000	0.89580	0.491000	0.48974	ATG	GIGYF1	-	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	ENSG00000146830		0.622	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIGYF1	HGNC	protein_coding	OTTHUMT00000347205.2	-	0	28	0	C	NM_022574		100282217	-1	tier1	-	no_errors	ENST00000275732	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	100282217	C	T	100282217	3	4	56	1	0	0	0	0	1	0	0	0	6403	594	21	3	1670	3	GIGYF1	7	100282217	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	1008413	100282217	58856446	75	13860											
COG5	10466	genome.wustl.edu	37	chr7	106898783	106898783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatttcttctctgtccttCagtaagaggcccaatcacct	9	13	5	14	0	4	1	2	0	2	1	6	1	5	1	3	1	0	1	3	1	2	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:106898783C>T	ENST00000347053.3	-	15	1764	c.1714G>A	c.(1714-1716)Gaa>Aaa	p.E572K	COG5_ENST00000297135.3_Missense_Mutation_p.E572K|COG5_ENST00000393603.2_Missense_Mutation_p.E572K	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	572					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTCTGTCCTTCAGTAAGAGGC	0.343																																																	0													187	173	178					7																	106898783		2203	4300	6503	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1714G>A	7.37:g.106898783C>T	ENSP00000334703:p.Glu572Lys		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_Cog5	p.E572K	ENST00000347053.3	37	c.1714	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395518	0.62066	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.57273	0.41;0.41;0.41	6.03	6.03	0.97812	.	0.047359	0.85682	D	0.000000	T	0.52613	0.1745	L	0.55481	1.735	0.80722	D	1	B;P	0.47604	0.322;0.898	B;P	0.45037	0.078;0.467	T	0.45920	-0.9228	10	0.08599	T	0.76	-16.3676	19.3283	0.94273	0.0:1.0:0.0:0.0	.	572;572	Q9UP83;Q9UP83-2	COG5_HUMAN;.	K	572	ENSP00000334703:E572K;ENSP00000297135:E572K;ENSP00000377228:E572K	ENSP00000297135:E572K	E	-	1	0	COG5	106686019	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.671000	0.74472	2.861000	0.98227	0.655000	0.94253	GAA	COG5	-	NULL	ENSG00000164597		0.343	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	-	0	36	0	C			106898783	-1	tier1	-	no_errors	ENST00000297135	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	T	T	106898783	C	T	106898783	3	4	56	1	0	0	0	0	1	0	0	0	3668	835	29	3	904	3	COG5	7	106898783	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	6616566	106898783	52239880	76	13861											
LAMB4	22798	genome.wustl.edu	37	chr7	107746347	107746347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcaaaagcagcttcccCgaacaatcatctcgtacaga	14	8	6	13	2	2	1	1	0	1	1	4	2	3	1	2	0	5	4	2	0	5	3	rs377732422		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:107746347C>T	ENST00000388781.3	-	8	868	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	LAMB4_ENST00000418464.1_Missense_Mutation_p.R262Q|LAMB4_ENST00000414450.2_Missense_Mutation_p.R262Q|LAMB4_ENST00000388780.3_Missense_Mutation_p.R262Q|LAMB4_ENST00000205386.4_Missense_Mutation_p.R262Q	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	262	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)		p.R262Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCAGCTTCCCCGAACAATCAT	0.473																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						C	GLN/ARG	0,4406		0,0,2203	126	110	116		785	0	0	7		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMB4	NM_007356.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/1762	107746347	1,13005	2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.785G>A	7.37:g.107746347C>T	ENSP00000373433:p.Arg262Gln		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R262Q	ENST00000388781.3	37	c.785	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843115	0.71488	0.0	1.16E-4	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	4.87	0.0385	0.14200	Laminin, N-terminal (3);	0.488989	0.17139	N	0.185530	T	0.78935	0.4362	M	0.65975	2.015	0.36009	D	0.837947	D	0.61697	0.99	P	0.51101	0.659	T	0.81052	-0.1107	10	0.87932	D	0	.	10.4608	0.44578	0.0:0.6044:0.0:0.3956	.	262	A4D0S4	LAMB4_HUMAN	Q	262	ENSP00000205386:R262Q;ENSP00000373433:R262Q;ENSP00000373432:R262Q;ENSP00000402353:R262Q;ENSP00000402265:R262Q	ENSP00000205386:R262Q	R	-	2	0	LAMB4	107533583	0.000000	0.05858	0.025000	0.17156	0.949000	0.60115	0.277000	0.18734	-0.184000	0.10567	-0.150000	0.13652	CGG	LAMB4	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000091128		0.473	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	37	0	C	XM_209857		107746347	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.463	T	T	107746347	C	T	107746347	3	4	56	1	0	0	0	0	1	0	0	0	8641	652	23	1	4608	1	LAMB4	7	107746347	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	847564	107746347	51392316	77	13862											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113519600	113519600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctttgttcttcatcaTccttaccattgccataataa	11	18	2	10	0	4	0	2	0	2	0	5	0	5	0	3	0	2	1	3	0	4	9			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:113519600T>C	ENST00000284601.3	-	4	1615	c.1547A>G	c.(1546-1548)gAt>gGt	p.D516G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	516					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCTTCATCATCCTTACCATT	0.338																																																	0													66	63	64					7																	113519600		2203	4299	6502	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1547A>G	7.37:g.113519600T>C	ENSP00000284601:p.Asp516Gly		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.D516G	ENST00000284601.3	37	c.1547	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933407	0.34096	.	.	ENSG00000154415	ENST00000284601	T	0.20200	2.09	5.76	2.11	0.27256	.	0.870415	0.10173	N	0.706920	T	0.14527	0.0351	L	0.50333	1.59	0.09310	N	1	P	0.38922	0.651	B	0.30943	0.122	T	0.32929	-0.9888	10	0.72032	D	0.01	-0.2575	1.1062	0.01694	0.1741:0.1592:0.1334:0.5332	.	516	Q16821	PPR3A_HUMAN	G	516	ENSP00000284601:D516G	ENSP00000284601:D516G	D	-	2	0	PPP1R3A	113306836	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.063000	0.11655	0.127000	0.18452	-0.256000	0.11100	GAT	PPP1R3A	-	NULL	ENSG00000154415		0.338	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0	58	0	T	NM_002711		113519600	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	29.63	38	16	SNP	0.000	C	C	113519600	T	C	113519600	3	2	56	1	0	0	0	0	1	0	0	0	12413	1435	50	4	1825	4	PPP1R3A	7	113519600	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	5773253	113519600	45619063	78	13863											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147092847	147092847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttcgcgaatgtcagcAttgacatgtgtgcgatcata	11	12	11	7	3	2	1	2	1	0	0	3	4	2	1	0	0	2	2	0	0	3	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:147092847A>T	ENST00000361727.3	+	10	2161	c.1645A>T	c.(1645-1647)Att>Ttt	p.I549F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	549	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAATGTCAGCATTGACATGTG	0.428										HNSCC(39;0.1)																																							0													155	137	143					7																	147092847		2203	4299	6502	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1645A>T	7.37:g.147092847A>T	ENSP00000354778:p.Ile549Phe		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.I549F	ENST00000361727.3	37	c.1645	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	A	14.55	2.567900	0.45798	.	.	ENSG00000174469	ENST00000361727	T	0.76448	-1.02	5.27	4.1	0.47936	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.186590	0.35436	N	0.003215	T	0.64962	0.2646	L	0.33189	0.99	0.80722	D	1	B	0.25441	0.126	B	0.25140	0.058	T	0.55573	-0.8120	10	0.17832	T	0.49	.	10.4518	0.44526	0.8539:0.0:0.0:0.146	.	549	Q9UHC6	CNTP2_HUMAN	F	549	ENSP00000354778:I549F	ENSP00000354778:I549F	I	+	1	0	CNTNAP2	146723780	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.439000	0.73430	0.828000	0.34709	0.482000	0.46254	ATT	CNTNAP2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000174469		0.428	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1		0	26	0	A			147092847	1			no_errors	ENST00000361727	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	147092847	A	T	147092847	3	4	56	1	0	0	0	0	1	0	0	0	3654	217	8	5	1683	5	CNTNAP2	7	147092847	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	33573247	147092847	12045816	79	13864											
MLL3	58508	genome.wustl.edu	37	chr7	151927069	151927069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaacaggcaagtaatcttCcttctgctccttggccaaaa	12	10	8	11	0	2	1	0	0	2	1	4	2	4	1	3	2	2	3	3	2	5	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr7:151927069C>T	ENST00000262189.6	-	18	3133	c.2915G>A	c.(2914-2916)gGa>gAa	p.G972E	KMT2C_ENST00000355193.2_Missense_Mutation_p.G972E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	972					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G972E(4)									AAGTAATCTTCCTTCTGCTCC	0.353																																																	4	Substitution - Missense(4)	urinary_tract(2)|NS(2)											63	52	56					7																	151927069		2199	4278	6477	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2915G>A	7.37:g.151927069C>T	ENSP00000262189:p.Gly972Glu		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G972E	ENST00000262189.6	37	c.2915	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572824	0.65765	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.88277	-2.36;-2.36	4.67	4.67	0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.40469	U	0.001093	D	0.93993	0.8076	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94782	0.7954	10	0.87932	D	0	.	17.9348	0.89009	0.0:1.0:0.0:0.0	.	972;33	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	E	972	ENSP00000262189:G972E;ENSP00000347325:G972E	ENSP00000262189:G972E	G	-	2	0	MLL3	151558002	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.770000	0.85390	2.303000	0.77524	0.460000	0.39030	GGA	KMT2C	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger	ENSG00000055609		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	343	0	C			151927069	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	missense	6.16	274	18	SNP	1.000	T	T	151927069	C	T	151927069	3	4	56	1	0	0	0	0	1	0	0	0	9660	855	30	3	11988	3	MLL3	7	151927069	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	4834222	151927069	7211594	80	13865											
GFRA2	2675	genome.wustl.edu	37	chr8	21608305	21608305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtggcacttgcggcGgttgcagcgctcggtgggcg	2	9	19	11	5	0	0	0	0	0	0	1	0	0	0	1	6	3	4	1	6	0	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:21608305G>A	ENST00000524240.1	-	4	1239	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GFRA2_ENST00000517328.1_Missense_Mutation_p.R197C|GFRA2_ENST00000518077.1_Missense_Mutation_p.R64C|GFRA2_ENST00000400782.4_Missense_Mutation_p.R92C	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	197					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CACTTGCGGCGGTTGCAGCGC	0.627																																																	0													54	65	61					8																	21608305		2196	4296	6492	SO:0001583	missense	0			AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.589C>T	8.37:g.21608305G>A	ENSP00000428518:p.Arg197Cys		E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2	p.R197C	ENST00000524240.1	37	c.589	CCDS47816.1	8	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827723	0.71143	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892;ENST00000522071;ENST00000520826	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.78	4.78	0.61160	GDNF/GAS1 (2);	0.052680	0.85682	D	0.000000	T	0.78966	0.4367	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.984;0.975;0.99	T	0.82252	-0.0549	10	0.87932	D	0	-20.1027	13.5679	0.61830	0.0:0.0:0.8438:0.1562	.	64;92;197	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	C	197;92;197;64;92;197;189	ENSP00000428518:R197C;ENSP00000383592:R92C;ENSP00000429445:R197C;ENSP00000429206:R64C;ENSP00000429979:R92C;ENSP00000428721:R197C	ENSP00000383592:R92C	R	-	1	0	GFRA2	21652585	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.709000	0.54853	2.199000	0.70637	0.313000	0.20887	CGC	GFRA2	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt	ENSG00000168546		0.627	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRA2	HGNC	protein_coding	OTTHUMT00000376254.3	-	0	27	0	G	NM_001495		21608305	-1	tier1	-	no_errors	ENST00000517328	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	A	A	21608305	G	A	21608305	3	1	56	1	0	0	0	0	1	0	0	0	6374	1116	39	1	829	1	GFRA2	8	21608305	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		21608305	124755717	81	13866											
C8orf80	389643	genome.wustl.edu	37	chr8	27922180	27922180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagatgcgcatctcagcGgcctctccatcccaatctct	7	9	8	17	2	3	1	1	0	3	1	7	1	4	1	4	2	2	1	4	2	1	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:27922180G>A	ENST00000413272.2	-	7	922	c.780C>T	c.(778-780)gcC>gcT	p.A260A	NUGGC_ENST00000341513.6_Silent_p.A260A	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	260					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GCATCTCAGCGGCCTCTCCAT	0.562																																																	0													83	86	85					8																	27922180		2146	4247	6393	SO:0001819	synonymous_variant	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.780C>T	8.37:g.27922180G>A			Q6ZP73	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.A260	ENST00000413272.2	37	c.780	CCDS47833.1	8																																																																																			NUGGC	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000189233		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	-	0	81	0	G	NM_001010906		27922180	-1	tier1	-	no_errors	ENST00000341513	ensembl	human	known	74_37	silent	17.24	48	10	SNP	0.000	A	A	27922180	G	A	27922180	2	1	56	1	0	0	0	0	0	0	0	1	2446	1103	39	1		1	C8orf80	8	27922180	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	6313875	27922180	118441842	82	13867											
TEX15	56154	genome.wustl.edu	37	chr8	30700453	30700453	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatattatccatgttattAtcttgtagcatctgaaagta	15	16	5	5	0	2	1	0	1	2	0	3	1	3	1	1	0	1	4	1	0	9	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:30700453A>G	ENST00000256246.2	-	1	6155	c.6081T>C	c.(6079-6081)gaT>gaC	p.D2027D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2027					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCATGTTATTATCTTGTAGCA	0.318																																																	0													19	21	20					8																	30700453		2171	4276	6447	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6081T>C	8.37:g.30700453A>G				Silent	SNP	NULL	p.D2027	ENST00000256246.2	37	c.6081	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.318	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	-	0	44	0	A			30700453	-1	tier1	-	no_errors	ENST00000256246	ensembl	human	known	74_37	silent	35.71	27	15	SNP	0.799	G	G	30700453	A	G	30700453	2	3	56	1	0	0	0	0	0	0	0	1	15826	446	16	4		4	TEX15	8	30700453	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	2778273	30700453	115663569	83	13868											
RP1	6101	genome.wustl.edu	37	chr8	55541559	55541559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacaagataagtgtgatgTtagtgctgtgagggacaatt	14	11	13	3	0	0	4	0	2	0	2	0	5	0	5	0	1	1	2	0	1	5	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:55541559T>C	ENST00000220676.1	+	4	5265	c.5117T>C	c.(5116-5118)gTt>gCt	p.V1706A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1706					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGTGTGATGTTAGTGCTGTG	0.408																																					Colon(91;1014 1389 7634 14542 40420)												0													172	170	171					8																	55541559		2203	4300	6503	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5117T>C	8.37:g.55541559T>C	ENSP00000220676:p.Val1706Ala			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V1706A	ENST00000220676.1	37	c.5117	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	T	0.067	-1.210385	0.01555	.	.	ENSG00000104237	ENST00000220676	T	0.20332	2.08	5.93	3.57	0.40892	.	1.383560	0.04726	N	0.420304	T	0.12817	0.0311	N	0.11427	0.14	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.34104	-0.9842	10	0.18710	T	0.47	-0.782	8.519	0.33264	0.0:0.1522:0.0:0.8478	.	1706	P56715	RP1_HUMAN	A	1706	ENSP00000220676:V1706A	ENSP00000220676:V1706A	V	+	2	0	RP1	55704112	0.601000	0.26907	0.002000	0.10522	0.024000	0.10985	1.689000	0.37700	0.504000	0.28082	0.533000	0.62120	GTT	RP1	-	NULL	ENSG00000104237		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	79	0	T	NM_006269		55541559	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	29.49	55	23	SNP	0.144	C	C	55541559	T	C	55541559	3	2	56	1	0	0	0	0	1	0	0	0	13577	1725	60	4	5127	4	RP1	8	55541559	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	24841106	55541559	90822463	84	13869											
PREX2	80243	genome.wustl.edu	37	chr8	69058490	69058490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagtcggcaagctctgaaAgtttacttctacattgatag	12	12	10	7	1	2	2	0	2	2	0	3	3	2	3	0	2	3	3	0	2	6	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:69058490A>G	ENST00000288368.4	+	34	4411	c.4134A>G	c.(4132-4134)aaA>aaG	p.K1378K		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1378					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGCTCTGAAAGTTTACTTCT	0.338																																																	0													99	96	97					8																	69058490		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4134A>G	8.37:g.69058490A>G			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K1378	ENST00000288368.4	37	c.4134	CCDS6201.1	8																																																																																			PREX2	-	NULL	ENSG00000046889		0.338	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	39	0	A	NM_025170		69058490	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.995	G	G	69058490	A	G	69058490	2	3	56	1	0	0	0	0	0	0	0	1	12519	69	3	4		4	PREX2	8	69058490	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	13516931	69058490	77305532	85	13870											
SULF1	23213	genome.wustl.edu	37	chr8	70551032	70551032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctacacgtacaactaatGgagctcagaagctgtcaagg	14	7	10	10	1	2	1	2	0	0	1	2	2	2	2	0	2	6	4	0	2	6	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:70551032G>T	ENST00000260128.4	+	21	3207	c.2490G>T	c.(2488-2490)atG>atT	p.M830I	SULF1_ENST00000419716.3_Missense_Mutation_p.M830I|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.M830I|SULF1_ENST00000402687.4_Missense_Mutation_p.M830I	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	830					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TACAACTAATGGAGCTCAGAA	0.383																																																	0													101	90	94					8																	70551032		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2490G>T	8.37:g.70551032G>T	ENSP00000260128:p.Met830Ile		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.M830I	ENST00000260128.4	37	c.2490	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.362717	0.97507	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.29	4.35	0.52113	Alkaline-phosphatase-like, core domain (1);	0.042895	0.85682	D	0.000000	T	0.27765	0.0683	L	0.59967	1.855	0.58432	D	0.999996	B	0.31026	0.304	B	0.30401	0.115	T	0.07443	-1.0772	10	0.44086	T	0.13	.	15.0589	0.71936	0.0:0.0:0.8575:0.1425	.	830	Q8IWU6	SULF1_HUMAN	I	830	ENSP00000403040:M830I;ENSP00000260128:M830I;ENSP00000385704:M830I;ENSP00000390315:M830I	ENSP00000260128:M830I	M	+	3	0	SULF1	70713586	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.838000	0.86804	2.645000	0.89757	0.650000	0.86243	ATG	SULF1	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.383	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	34	0	G	NM_015170		70551032	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	70551032	G	T	70551032	3	4	56	1	0	0	0	0	1	0	0	0	15417	1348	47	3	2556	3	SULF1	8	70551032	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1492542	70551032	75812990	86	13871											
ATP6V0D2	245972	genome.wustl.edu	37	chr8	87111238	87111238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggagctgtacttcaacGtggaccatggctacctggag	8	9	14	10	2	1	0	1	0	0	0	1	3	1	3	2	4	5	3	2	4	3	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:87111238G>A	ENST00000285393.3	+	1	173	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	11					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GTACTTCAACGTGGACCATGG	0.562																																																	0													136	102	114					8																	87111238		2203	4300	6503	SO:0001583	missense	0			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"ATPases / V-type"	18266	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.31G>A	8.37:g.87111238G>A	ENSP00000285393:p.Val11Met			Missense_Mutation	SNP	pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.V11M	ENST00000285393.3	37	c.31	CCDS6241.1	8	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311143	0.60414	.	.	ENSG00000147614	ENST00000521564;ENST00000523635;ENST00000285393	T	0.34472	1.36	5.56	4.67	0.58626	.	0.236615	0.33401	N	0.004948	T	0.36082	0.0954	L	0.53617	1.68	0.48762	D	0.999707	P	0.52061	0.95	B	0.44044	0.439	T	0.11060	-1.0603	10	0.39692	T	0.17	10.1292	12.5516	0.56229	0.0827:0.0:0.9173:0.0	.	11	Q8N8Y2	VA0D2_HUMAN	M	11	ENSP00000285393:V11M	ENSP00000285393:V11M	V	+	1	0	ATP6V0D2	87180354	1.000000	0.71417	0.968000	0.41197	0.926000	0.56050	5.108000	0.64609	2.612000	0.88384	0.591000	0.81541	GTG	ATP6V0D2	-	pirsf_ATPase_V0-cplx_dsu	ENSG00000147614		0.562	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D2	HGNC	protein_coding	OTTHUMT00000374651.1	-	0	77	0	G	NM_152565		87111238	1	tier1	-	no_errors	ENST00000285393	ensembl	human	known	74_37	missense	20.00	40	10	SNP	0.981	A	A	87111238	G	A	87111238	3	1	56	1	0	0	0	0	1	0	0	0	1175	1145	40	1	33	1	ATP6V0D2	8	87111238	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	16560206	87111238	59252784	87	13872											
INTS8	55656	genome.wustl.edu	37	chr8	95837220	95837220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccgcctgataacaagaGaaatcgtattttaaaactac	16	10	5	10	2	0	2	0	1	0	1	2	3	1	2	3	0	3	1	3	0	7	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:95837220G>T	ENST00000523731.1	+	2	363	c.230G>T	c.(229-231)aGa>aTa	p.R77I	INTS8_ENST00000447247.1_Missense_Mutation_p.R77I	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	77					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GATAACAAGAGAAATCGTATT	0.368																																																	0													78	80	79					8																	95837220		2203	4300	6503	SO:0001583	missense	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.230G>T	8.37:g.95837220G>T	ENSP00000430338:p.Arg77Ile		B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.R77I	ENST00000523731.1	37	c.230	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.014797|5.014797	0.93404|0.93404	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000521860|ENST00000522171;ENST00000523808;ENST00000519457;ENST00000523731;ENST00000447247	.|.	.|.	.|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77824|0.77824	0.4188|0.4188	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.80764	.|0.994;0.994	T|T	0.79725|0.79725	-0.1683|-0.1683	5|9	.|0.87932	.|D	.|0	-20.5725|-20.5725	18.7041|18.7041	0.91631|0.91631	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|77;77	.|Q75QN2;Q75QN2-2	.|INT8_HUMAN;.	D|I	64|36;141;77;77;77	.|.	.|ENSP00000343274:R77I	E|R	+|+	3|2	2|0	INTS8|INTS8	95906396|95906396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.997000|8.997000	0.93544|0.93544	2.648000|2.648000	0.89879|0.89879	0.563000|0.563000	0.77884|0.77884	GAG|AGA	INTS8	-	NULL	ENSG00000164941		0.368	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1		0	29	0	G	NM_017864		95837220	1			no_errors	ENST00000523731	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	95837220	G	T	95837220	3	4	56	1	0	0	0	0	1	0	0	0	7811	942	33	3	236	3	INTS8	8	95837220	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	8725982	95837220	50526802	88	13873											
POP1	10940	genome.wustl.edu	37	chr8	99170327	99170327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctcctaggctttgtgaCtcagggagatttttccatgg	8	14	10	9	0	2	2	1	1	1	1	4	3	3	2	2	3	1	1	2	3	2	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:99170327C>T	ENST00000401707.2	+	16	2984	c.2903C>T	c.(2902-2904)aCt>aTt	p.T968I	POP1_ENST00000349693.3_Missense_Mutation_p.T968I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	968					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGCTTTGTGACTCAGGGAGAT	0.592																																																	0													97	102	100					8																	99170327		2203	4300	6503	SO:0001583	missense	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2903C>T	8.37:g.99170327C>T	ENSP00000385787:p.Thr968Ile		A8K5W9|Q15037	Missense_Mutation	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.T968I	ENST00000401707.2	37	c.2903	CCDS6277.1	8	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736307	0.89482	.	.	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.14640	2.49;2.49	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.43196	-0.9406	10	0.62326	D	0.03	-6.1446	17.9548	0.89065	0.0:1.0:0.0:0.0	.	968	Q99575	POP1_HUMAN	I	968	ENSP00000385787:T968I;ENSP00000339529:T968I	ENSP00000339529:T968I	T	+	2	0	POP1	99239503	1.000000	0.71417	0.953000	0.39169	0.922000	0.55478	7.601000	0.82783	2.663000	0.90544	0.557000	0.71058	ACT	POP1	-	NULL	ENSG00000104356		0.592	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	HGNC	protein_coding	OTTHUMT00000379470.1	-	0	41	0	C	NM_015029		99170327	1	tier1	-	no_errors	ENST00000349693	ensembl	human	known	74_37	missense	77.08	22	74	SNP	1.000	T	T	99170327	C	T	99170327	3	4	56	1	0	0	0	0	1	0	0	0	12290	565	20	3	2961	3	POP1	8	99170327	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	3333107	99170327	47193695	89	13874											
RIMS2	9699	genome.wustl.edu	37	chr8	104513161	104513161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctggctcccatcccggCggcctctcagccgcctctgc	2	7	10	22	4	2	0	1	0	2	0	5	0	4	0	7	3	2	1	7	3	0	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:104513161C>T	ENST00000406091.3	+	1	47	c.47C>T	c.(46-48)gCg>gTg	p.A16V	RP11-1C8.4_ENST00000523422.1_RNA|RP11-1C8.4_ENST00000517376.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	16					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCATCCCGGCGGCCTCTCAG	0.657										HNSCC(12;0.0054)																																							0													15	18	17					8																	104513161		1830	4063	5893	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.47C>T	8.37:g.104513161C>T	ENSP00000384892:p.Ala16Val		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.A16V	ENST00000406091.3	37	c.47	CCDS55269.1	8	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154244	0.38021	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.18657	2.2;2.69	2.53	1.65	0.23941	.	.	.	.	.	T	0.19927	0.0479	L	0.40543	1.245	0.80722	D	1	D	0.60575	0.988	P	0.48030	0.564	T	0.02813	-1.1107	9	0.59425	D	0.04	.	7.5218	0.27633	0.0:0.8612:0.0:0.1387	.	16	F8WD47	.	V	16	ENSP00000427018:A16V;ENSP00000384892:A16V	ENSP00000332184:A16V	A	+	2	0	RIMS2	104582337	0.764000	0.28473	0.998000	0.56505	0.802000	0.45316	0.658000	0.24979	0.626000	0.30322	0.561000	0.74099	GCG	RIMS2	-	NULL	ENSG00000176406		0.657	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS2	HGNC	protein_coding		-	0	30	0	C	NM_001100117		104513161	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	70.21	28	66	SNP	1.000	T	T	104513161	C	T	104513161	3	4	56	1	0	0	0	0	1	0	0	0	13413	768	27	1	49	1	RIMS2	8	104513161	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	5342834	104513161	41850861	90	13875											
RIMS2	9699	genome.wustl.edu	37	chr8	104898169	104898169	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacccatagatagaccagacTtgaggcgtactgactcacta	13	9	8	11	1	1	5	1	2	0	3	1	5	1	5	2	1	2	1	2	1	5	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:104898169T>C	ENST00000436393.2	+	2	917	c.676T>C	c.(676-678)Ttg>Ctg	p.L226L	RIMS2_ENST00000507740.1_Silent_p.L256L|RIMS2_ENST00000262231.10_Silent_p.L256L|RIMS2_ENST00000406091.3_Silent_p.L448L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	479					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.L256L(1)|p.L226L(1)|p.L484L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGACCAGACTTGAGGCGTAC	0.463										HNSCC(12;0.0054)																																							3	Substitution - coding silent(3)	large_intestine(3)											102	94	97					8																	104898169		1929	4148	6077	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.676T>C	8.37:g.104898169T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.L448	ENST00000436393.2	37	c.1342		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	34	0	T	NM_001100117		104898169	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	70.93	25	61	SNP	0.117	C	C	104898169	T	C	104898169	2	2	56	1	0	0	0	0	0	0	0	1	13413	1606	56	4		4	RIMS2	8	104898169	Silent	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	385008	104898169	41465853	91	13876											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110425678	110425678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatacaaaggattcctggCaaattatattggtctaaaat	16	12	7	6	0	1	0	0	0	1	0	2	1	2	1	1	3	2	2	1	3	7	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:110425678C>A	ENST00000378402.5	+	21	2368	c.2264C>A	c.(2263-2265)gCa>gAa	p.A755E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	755					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATTCCTGGCAAATTATATT	0.279										HNSCC(38;0.096)																																							0													88	82	84					8																	110425678		1808	4071	5879	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2264C>A	8.37:g.110425678C>A	ENSP00000367655:p.Ala755Glu		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.A755E	ENST00000378402.5	37	c.2264	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	7.028	0.560097	0.13498	.	.	ENSG00000205038	ENST00000378402	D	0.85258	-1.96	4.82	2.87	0.33458	.	0.679959	0.14298	N	0.328500	T	0.77075	0.4077	M	0.64997	1.995	0.21064	N	0.999795	P	0.36315	0.547	B	0.30316	0.114	T	0.61997	-0.6947	10	0.05620	T	0.96	.	10.0539	0.42233	0.4416:0.5584:0.0:0.0	.	755	Q86WI1	PKHL1_HUMAN	E	755	ENSP00000367655:A755E	ENSP00000367655:A755E	A	+	2	0	PKHD1L1	110494854	0.309000	0.24518	0.997000	0.53966	0.393000	0.30537	0.087000	0.14958	0.316000	0.23135	-0.347000	0.07816	GCA	PKHD1L1	-	NULL	ENSG00000205038		0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	29	0	C	NM_177531		110425678	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.999	A	A	110425678	C	A	110425678	3	1	56	1	0	0	0	0	1	0	0	0	12011	710	25	3	2346	3	PKHD1L1	8	110425678	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	5527509	110425678	35938344	92	13877											
CSMD3	114788	genome.wustl.edu	37	chr8	113516028	113516028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatttacctttgtattCtagatgaaatccagtgtaac	12	17	5	7	0	2	2	1	1	1	1	3	2	3	2	2	0	2	2	2	0	6	9			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:113516028C>A	ENST00000297405.5	-	30	5318	c.5074G>T	c.(5074-5076)Gaa>Taa	p.E1692*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E1588*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E1692*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E1652*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1692	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTTGTATTCTAGATGAAAT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													119	107	111					8																	113516028		2203	4300	6503	SO:0001587	stop_gained	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5074G>T	8.37:g.113516028C>A	ENSP00000297405:p.Glu1692*		Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E1692*	ENST00000297405.5	37	c.5074	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	47	13.123032	0.99721	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.08	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	15.4861	0.75569	0.0:0.8609:0.1391:0.0	.	.	.	.	X	1652;1692;1032;1588;1692	.	ENSP00000297405:E1692X	E	-	1	0	CSMD3	113585204	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.817000	0.69229	1.322000	0.45245	0.650000	0.86243	GAA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	58	0	C	NM_052900		113516028	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	33.33	38	19	SNP	1.000	A	A	113516028	C	A	113516028	4	1	56	1	0	0	0	0	0	1	0	0	3955	922	32	3	6217	3	CSMD3	8	113516028	Nonsense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	3090350	113516028	32847994	93	13878											
CYP11B1	1584	genome.wustl.edu	37	chr8	143958194	143958194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgaacatgagctggaCggtggatttgaacatgacct	11	9	14	7	1	0	4	0	4	0	0	0	6	0	6	1	4	3	2	1	4	2	1	rs577746344		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:143958194C>T	ENST00000292427.4	-	4	735	c.703G>A	c.(703-705)Gtc>Atc	p.V235I	CYP11B1_ENST00000517471.1_Missense_Mutation_p.V235I|CYP11B1_ENST00000377675.3_Missense_Mutation_p.V306I	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	235					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	ATGAGCTGGACGGTGGATTTG	0.592									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0	0	5008	,	,		19785	0		0.001	False		,,,				2504	0																0													36	35	35					8																	143958194		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.703G>A	8.37:g.143958194C>T	ENSP00000292427:p.Val235Ile		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.V235I	ENST00000292427.4	37	c.703	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	.	12.35	1.910459	0.33721	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.69040	-0.37;-0.37;-0.37	3.78	-1.03	0.10102	.	1.453280	0.04657	N	0.408270	T	0.53481	0.1799	M	0.68593	2.085	0.09310	N	1	P;B;P	0.35807	0.513;0.164;0.522	B;B;B	0.26202	0.067;0.041;0.049	T	0.30446	-0.9978	10	0.21540	T	0.41	.	0.6878	0.00886	0.1706:0.2667:0.1683:0.3943	.	306;235;235	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	I	235;235;306	ENSP00000292427:V235I;ENSP00000428043:V235I;ENSP00000366903:V306I	ENSP00000292427:V235I	V	-	1	0	CYP11B1	143955196	0.000000	0.05858	0.001000	0.08648	0.495000	0.33615	-1.183000	0.03079	-0.015000	0.14150	-0.142000	0.14014	GTC	CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000160882		0.592	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	-	0	43	0	C			143958194	-1	tier1	-	no_errors	ENST00000292427	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.001	T	T	143958194	C	T	143958194	3	4	56	1	0	0	0	0	1	0	0	0	4154	536	19	1	832	1	CYP11B1	8	143958194	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	30442166	143958194	2405828	94	13879											
RECQL4	113655	genome.wustl.edu	37	chr8	145739086	145739086	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtttgccttgcagcagcGtcaacagtgcctgatgagga	10	9	12	10	2	1	2	1	2	0	0	1	3	1	3	2	1	7	3	2	1	2	2	rs369950284		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr8:145739086G>A	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Missense_Mutation_p.T690M	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTGCAGCAGCGTCAACAGTGC	0.612																																																	0													20	21	21					8																	145739086		2004	4068	6072	SO:0001628	intergenic_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739086G>A				Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.T690M	ENST00000301327.4	37	c.2069	CCDS6431.1	8																																																																																			RECQL4	-	superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000160957		0.612	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382478.2	-	0	33	0	G	NM_138431		145739086	-1	tier1	-	no_errors	ENST00000428558	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.996	A	A	145739086	G	A	145739086	1	1	56	0	1	0	0	0	0	0	0	0	13247	1145	40	1		1	RECQL4	8	145739086	IGR	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1780892	145739086	624936	95	13880											
PRSS3	5646	genome.wustl.edu	37	chr9	33796660	33796660	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtcccctttgacgaTgatgacaagattgttggggg	7	13	14	7	1	0	4	0	3	0	1	1	5	1	4	2	2	1	3	2	2	1	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:33796660T>C	ENST00000361005.5	+	2	231	c.231T>C	c.(229-231)gaT>gaC	p.D77D	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Silent_p.D20D|PRSS3_ENST00000342836.4_Silent_p.D34D|PRSS3_ENST00000429677.3_Silent_p.D13D	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	77					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTTTGACGATGATGACAAGA	0.552																																																	0													193	181	185					9																	33796660		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.231T>C	9.37:g.33796660T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D77	ENST00000361005.5	37	c.231	CCDS47958.1	9																																																																																			PRSS3	-	superfamily_Trypsin-like_Pept_dom	ENSG00000010438		0.552	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1		0	76	0	T	NM_002771		33796660	1			no_errors	ENST00000361005	ensembl	human	known	74_37	silent	7.48	99	8	SNP	0.998	C	C	33796660	T	C	33796660	2	2	56	1	0	0	0	0	0	0	0	1	12664	1461	51	4		4	PRSS3	9	33796660	Silent	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09		33796660	107416771	96	13881											
FAM189A2	9413	genome.wustl.edu	37	chr9	72006645	72006645	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggggaggccccgagcCgagaggaggccccggcgagt	7	1	19	14	5	0	1	0	0	0	1	0	6	0	3	6	6	2	0	6	6	0	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:72006645C>T	ENST00000257515.8	+	11	1698	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	FAM189A2_ENST00000455972.1_Silent_p.A426A|FAM189A2_ENST00000303068.7_Silent_p.A261A|FAM189A2_ENST00000377216.3_Silent_p.A213A	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	426						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCCCGAGCCGAGAGGAGGC	0.677																																																	0													21	25	23					9																	72006645		2199	4297	6496	SO:0001819	synonymous_variant	0			L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"chromosome 9 open reading frame 61"	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.1278C>T	9.37:g.72006645C>T			Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Silent	SNP	pfam_CD20-like	p.A426	ENST00000257515.8	37	c.1278	CCDS6629.1	9																																																																																			FAM189A2	-	NULL	ENSG00000135063		0.677	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A2	HGNC	protein_coding	OTTHUMT00000052576.2	-	0	57	0	C	NM_004816		72006645	1	tier1	-	no_errors	ENST00000257515	ensembl	human	known	74_37	silent	55.00	27	33	SNP	0.000	T	T	72006645	C	T	72006645	2	4	56	1	0	0	0	0	0	0	0	1	5535	639	23	1		1	FAM189A2	9	72006645	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	38209985	72006645	69206786	97	13882											
FLJ46321	389763	genome.wustl.edu	37	chr9	84610022	84610022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagccgtcccaaccagtgCtaaaagccctgtgtttagtg	9	10	9	13	1	0	0	0	0	0	0	2	0	2	0	5	0	4	2	5	0	4	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:84610022C>T	ENST00000344803.2	+	4	4684	c.4637C>T	c.(4636-4638)gCt>gTt	p.A1546V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1546					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCAACCAGTGCTAAAAGCCCT	0.517																																																	0													20	21	20					9																	84610022		2079	4223	6302	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4637C>T	9.37:g.84610022C>T	ENSP00000341988:p.Ala1546Val			Missense_Mutation	SNP	NULL	p.A1546V	ENST00000344803.2	37	c.4637	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578898	0.46006	.	.	ENSG00000214929	ENST00000344803	T	0.08458	3.09	2.37	1.44	0.22558	.	.	.	.	.	T	0.12987	0.0315	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.72338	0.977	T	0.20174	-1.0283	9	0.48119	T	0.1	-1.6923	6.3297	0.21262	0.2936:0.7064:0.0:0.0	.	1546	Q6ZQQ2	F75D1_HUMAN	V	1546	ENSP00000341988:A1546V	ENSP00000341988:A1546V	A	+	2	0	FAM75D1	83799842	0.000000	0.05858	0.058000	0.19502	0.009000	0.06853	-0.209000	0.09358	0.547000	0.28938	0.655000	0.94253	GCT	SPATA31D1	-	NULL	ENSG00000214929		0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	46	0	C	NM_001001670		84610022	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	21.15	41	11	SNP	0.066	T	T	84610022	C	T	84610022	3	4	56	1	0	0	0	0	1	0	0	0	5954	797	28	3	4651	3	FLJ46321	9	84610022	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	12603377	84610022	56603409	98	13883											
SMC2	10592	genome.wustl.edu	37	chr9	106862398	106862398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatccatgatagaagaagcaGctggaaccaggatgtatgaa	16	8	11	6	0	0	4	0	2	0	2	1	6	1	6	2	2	3	3	2	2	7	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:106862398G>T	ENST00000286398.7	+	6	793	c.505G>T	c.(505-507)Gct>Tct	p.A169S	SMC2_ENST00000374787.3_Missense_Mutation_p.A169S|SMC2_ENST00000374793.3_Missense_Mutation_p.A169S|SMC2_ENST00000303219.8_Missense_Mutation_p.A169S	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	169					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)	p.A169S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGAAGAAGCAGCTGGAACCAG	0.299																																																	2	Substitution - Missense(2)	endometrium(2)											35	39	38					9																	106862398		2188	4284	6472	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.505G>T	9.37:g.106862398G>T	ENSP00000286398:p.Ala169Ser		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.A169S	ENST00000286398.7	37	c.505	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.303509	0.95601	.	.	ENSG00000136824	ENST00000286398;ENST00000440179;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.83	5.83	0.93111	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.971;0.98;0.999	T	0.00056	-1.2176	10	0.59425	D	0.04	-12.675	18.6931	0.91590	0.0:0.0:1.0:0.0	.	169;169;169	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	S	169;24;169;169;169;169	ENSP00000286398:A169S;ENSP00000414999:A24S;ENSP00000363925:A169S;ENSP00000306152:A169S;ENSP00000363919:A169S	ENSP00000286398:A169S	A	+	1	0	SMC2	105902219	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.755000	0.98912	2.761000	0.94854	0.650000	0.86243	GCT	SMC2	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000136824		0.299	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1		0	35	0	G			106862398	1			no_errors	ENST00000286398	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	106862398	G	T	106862398	3	4	56	1	0	0	0	0	1	0	0	0	14828	971	34	3	523	3	SMC2	9	106862398	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	22252376	106862398	34351033	99	13884											
SVEP1	79987	genome.wustl.edu	37	chr9	113228183	113228183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacggctcctcttttcacaGttgaggtgttttctggacac	6	15	9	11	1	4	1	2	1	2	0	5	2	5	2	1	3	0	3	1	3	0	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:113228183G>T	ENST00000401783.2	-	18	3620	c.3284C>A	c.(3283-3285)aCt>aAt	p.T1095N	SVEP1_ENST00000374469.1_Missense_Mutation_p.T1072N|SVEP1_ENST00000302728.8_Missense_Mutation_p.T1095N|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1095					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTTTTCACAGTTGAGGTGTT	0.443																																																	0													61	54	56					9																	113228183		1864	4091	5955	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3284C>A	9.37:g.113228183G>T	ENSP00000384917:p.Thr1095Asn		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.T1095N	ENST00000401783.2	37	c.3284	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	31	5.069886	0.93950	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.60040	0.22;0.22;0.22	5.91	5.91	0.95273	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.046798	0.85682	D	0.000000	T	0.77123	0.4084	M	0.89353	3.025	0.48632	D	0.999687	D;D	0.52996	0.957;0.957	P;P	0.54372	0.75;0.75	T	0.79907	-0.1605	10	0.56958	D	0.05	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1095;1095	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	N	1095;1072;1095	ENSP00000384917:T1095N;ENSP00000363593:T1072N;ENSP00000304118:T1095N	ENSP00000304118:T1095N	T	-	2	0	SVEP1	112268004	1.000000	0.71417	0.241000	0.24154	0.904000	0.53231	9.166000	0.94766	2.793000	0.96121	0.655000	0.94253	ACT	SVEP1	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom	ENSG00000165124		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding			0	37	0	G			113228183	-1			no_errors	ENST00000401783	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	113228183	G	T	113228183	3	4	56	1	0	0	0	0	1	0	0	0	15467	1029	36	3	7555	3	SVEP1	9	113228183	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	6365785	113228183	27985248	100	13885											
CDK5RAP2	55755	genome.wustl.edu	37	chr9	123166353	123166353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggaggaatcaaacagatCaaatgaattatcactttcca	16	10	7	8	0	3	2	3	1	0	1	4	4	4	4	1	2	1	0	1	2	5	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:123166353C>T	ENST00000349780.4	-	33	5181	c.5002G>A	c.(5002-5004)Gat>Aat	p.D1668N	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D1627N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D1636N|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D1589N|CDK5RAP2_ENST00000480467.1_5'Flank	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1668					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCAAACAGATCAAATGAATTA	0.403																																																	0													139	120	126					9																	123166353		2203	4300	6503	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"centrosomin"	608201	"microcephaly, primary autosomal recessive 3"	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5002G>A	9.37:g.123166353C>T	ENSP00000343818:p.Asp1668Asn		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.D1668N	ENST00000349780.4	37	c.5002	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552708	0.65425	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.22134	3.97;3.88;3.97;3.69;2.29;1.97	5.51	5.51	0.81932	.	0.379903	0.25447	N	0.030603	T	0.36358	0.0964	M	0.62723	1.935	0.37356	D	0.911039	P;P;P;D;P	0.54047	0.763;0.944;0.95;0.964;0.589	B;P;P;P;B	0.53185	0.288;0.714;0.72;0.637;0.288	T	0.35351	-0.9792	10	0.87932	D	0	.	14.9214	0.70841	0.0:1.0:0.0:0.0	.	678;1636;1589;1668;1062	Q5JTU8;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	N	1636;1627;1668;1589;1062;678;1440	ENSP00000354065:D1636N;ENSP00000352258:D1627N;ENSP00000343818:D1668N;ENSP00000353317:D1589N;ENSP00000400395:D1062N;ENSP00000409941:D678N	ENSP00000341695:D1440N	D	-	1	0	CDK5RAP2	122206174	0.972000	0.33761	0.925000	0.36789	0.984000	0.73092	3.451000	0.52964	2.589000	0.87451	0.655000	0.94253	GAT	CDK5RAP2	-	NULL	ENSG00000136861		0.403	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	-	0	76	0	C	NM_018249		123166353	-1	tier1	-	no_errors	ENST00000349780	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.988	T	T	123166353	C	T	123166353	3	4	56	1	0	0	0	0	1	0	0	0	3153	826	29	3	703	3	CDK5RAP2	9	123166353	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	9938170	123166353	18047078	101	13886											
RPL35	11224	genome.wustl.edu	37	chr9	127620266	127620266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgcttcttggtcttcagGttctcctcgtgcttgttgag	2	18	11	10	1	4	1	1	1	3	0	6	1	4	1	1	2	3	5	1	2	0	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:127620266G>T	ENST00000348462.3	-	4	351	c.303C>A	c.(301-303)aaC>aaA	p.N101K	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	101					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		TGGTCTTCAGGTTCTCCTCGT	0.617																																																	0													49	41	44					9																	127620266		2203	4300	6503	SO:0001583	missense	0			U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"L ribosomal proteins"	10344	protein-coding gene	gene with protein product	"60S ribosomal protein L35"					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.303C>A	9.37:g.127620266G>T	ENSP00000259469:p.Asn101Lys		A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29	p.N101K	ENST00000348462.3	37	c.303	CCDS6858.1	9	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443442	0.43429	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.6	2.69	0.31865	.	0.427352	0.31290	N	0.007907	T	0.28101	0.0693	N	0.11064	0.09	0.44754	D	0.997756	B	0.02656	0.0	B	0.01281	0.0	T	0.04537	-1.0944	9	0.35671	T	0.21	.	5.8592	0.18736	0.2351:0.1839:0.581:0.0	.	101	P42766	RL35_HUMAN	K	101	.	ENSP00000259469:N101K	N	-	3	2	RPL35	126660087	0.993000	0.37304	0.999000	0.59377	0.997000	0.91878	0.392000	0.20801	0.787000	0.33731	0.655000	0.94253	AAC	RPL35	-	NULL	ENSG00000136942		0.617	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL35	HGNC	protein_coding	OTTHUMT00000054035.1		0	65	0	G	NM_007209		127620266	-1			no_errors	ENST00000348462	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	T	T	127620266	G	T	127620266	3	4	56	1	0	0	0	0	1	0	0	0	13629	1252	44	3	72	3	RPL35	9	127620266	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	4453913	127620266	13593165	102	13887											
TPRN	286262	genome.wustl.edu	37	chr9	140093662	140093662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgggcaccactgtgAaggtgttgctgccccggggc	4	10	14	13	1	1	1	0	1	1	0	2	1	2	1	4	4	2	3	4	4	1	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr9:140093662A>G	ENST00000409012.4	-	1	1588	c.1502T>C	c.(1501-1503)tTc>tCc	p.F501S	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.F440S	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	501					sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CACCACTGTGAAGGTGTTGCT	0.672																																																	0													63	62	62					9																	140093662		2203	4300	6503	SO:0001583	missense	0			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"chromosome 9 open reading frame 75", "deafness, autosomal recessive 79"	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1502T>C	9.37:g.140093662A>G	ENSP00000387100:p.Phe501Ser		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	NULL	p.F501S	ENST00000409012.4	37	c.1502	CCDS56594.1	9	.	.	.	.	.	.	.	.	.	.	A	18.68	3.676812	0.67928	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.78801	2.425	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.76945	-0.2771	9	0.48119	T	0.1	-18.8427	10.2728	0.43493	1.0:0.0:0.0:0.0	.	501	Q4KMQ1	TPRN_HUMAN	S	299;501;440	.	ENSP00000313704:F440S	F	-	2	0	TPRN	139213483	1.000000	0.71417	0.727000	0.30756	0.700000	0.40528	8.372000	0.90127	1.505000	0.48720	0.379000	0.24179	TTC	TPRN	-	NULL	ENSG00000176058		0.672	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	-	0	44	0	A	NM_173691		140093662	-1	tier1	-	no_errors	ENST00000409012	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	G	G	140093662	A	G	140093662	3	3	56	1	0	0	0	0	1	0	0	0	16469	246	9	4	729	4	TPRN	9	140093662	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	12473396	140093662	1119769	103	13888											
HSPA14	51182	genome.wustl.edu	37	chr10	14912595	14912595	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattgttcttgtataaacaGgttgtactccaggatttaga	12	16	8	5	0	1	1	0	0	1	1	2	2	2	2	1	2	2	4	1	2	6	10			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr10:14912595G>A	ENST00000378372.3	+	13	1619		c.e13-1			NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TGTATAAACAGGTTGTACTCC	0.284																																																	0													67	69	68					10																	14912595		2201	4289	6490	SO:0001630	splice_region_variant	0			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"Heat shock proteins / HSP70"	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.1381-1G>A	10.37:g.14912595G>A			A8K8F8|B0YIY9|Q9P0X2|Q9UI07	Splice_Site	SNP	-	e13-1	ENST00000378372.3	37	c.1381-1	CCDS7103.1	10	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360698	0.82353	.	.	ENSG00000187522	ENST00000378372	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5461	0.95297	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSPA14	14952601	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.232000	0.78116	2.688000	0.91661	0.655000	0.94253	.	HSPA14	-	-	ENSG00000187522		0.284	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	HGNC	protein_coding	OTTHUMT00000046910.1	-	0	39	0	G	NM_016299	Intron	14912595	1	tier1	-	no_errors	ENST00000378372	ensembl	human	known	74_37	splice_site	30.00	21	9	SNP	1.000	A	A	14912595	G	A	14912595	5	1	56	1	0	0	0	0	0	0	1	0	7434	1014	35	3	1430	3	HSPA14	10	14912595	Splice_Site	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		14912595	120622152	104	13889											
ENKUR	219670	genome.wustl.edu	37	chr10	25273785	25273785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatagaatctataaagaccGagagggactggaattcttta	15	11	10	5	1	2	3	0	0	2	3	2	6	2	5	1	2	0	1	1	2	8	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr10:25273785G>A	ENST00000331161.4	-	5	863	c.644C>T	c.(643-645)tCg>tTg	p.S215L	ENKUR_ENST00000376363.1_Missense_Mutation_p.S215L	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	215	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.					motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TATAAAGACCGAGAGGGACTG	0.398																																																	0													103	96	98					10																	25273785		2203	4300	6503	SO:0001583	missense	0			AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"chromosome 10 open reading frame 63"	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.644C>T	10.37:g.25273785G>A	ENSP00000331044:p.Ser215Leu		A8K8Y0|D3DRV2	Missense_Mutation	SNP	NULL	p.S215L	ENST00000331161.4	37	c.644	CCDS7146.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374912	0.82573	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.25	5.25	0.73442	.	0.116267	0.64402	D	0.000009	D	0.83312	0.5227	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	D	0.84581	0.0661	9	0.52906	T	0.07	-6.9366	18.7861	0.91955	0.0:0.0:1.0:0.0	.	215;215	Q5VV23;Q8TC29	.;ENKUR_HUMAN	L	215	.	ENSP00000331044:S215L	S	-	2	0	ENKUR	25313791	1.000000	0.71417	0.972000	0.41901	0.395000	0.30598	6.806000	0.75195	2.602000	0.87976	0.557000	0.71058	TCG	ENKUR	-	NULL	ENSG00000151023		0.398	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENKUR	HGNC	protein_coding	OTTHUMT00000047239.2	-	0	33	0	G	NM_145010		25273785	-1	tier1	-	no_errors	ENST00000331161	ensembl	human	known	74_37	missense	67.86	9	19	SNP	1.000	A	A	25273785	G	A	25273785	3	1	56	1	0	0	0	0	1	0	0	0	5136	1059	37	1	134	1	ENKUR	10	25273785	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	10361190	25273785	110260962	105	13890											
GAD2	2572	genome.wustl.edu	37	chr10	26581439	26581439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgataaatgtttggagttgGcagagtatttatacaacatc	13	15	9	4	0	0	2	0	1	0	1	1	3	0	3	0	2	2	4	0	2	6	8			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr10:26581439G>A	ENST00000376261.3	+	14	1935	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T	GAD2_ENST00000259271.3_Missense_Mutation_p.A478T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	478					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTGGAGTTGGCAGAGTATTT	0.413																																																	0													134	126	129					10																	26581439		2203	4300	6503	SO:0001583	missense	0			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1432G>A	10.37:g.26581439G>A	ENSP00000365437:p.Ala478Thr		Q9UD87	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.A478T	ENST00000376261.3	37	c.1432	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618682	0.66787	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.52983	0.64;0.64	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.055044	0.85682	D	0.000000	T	0.48333	0.1494	L	0.53671	1.685	0.80722	D	1	B	0.27013	0.166	B	0.34242	0.178	T	0.41034	-0.9531	10	0.40728	T	0.16	-16.6767	14.7678	0.69654	0.0:0.0:0.8556:0.1444	.	478	Q05329	DCE2_HUMAN	T	478	ENSP00000365437:A478T;ENSP00000259271:A478T	ENSP00000259271:A478T	A	+	1	0	GAD2	26621445	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.822000	0.75277	2.793000	0.96121	0.655000	0.94253	GCA	GAD2	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	ENSG00000136750		0.413	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	HGNC	protein_coding	OTTHUMT00000047255.1	-	0	59	0	G	NM_000818		26581439	1	tier1	-	no_errors	ENST00000259271	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	26581439	G	A	26581439	3	1	56	1	0	0	0	0	1	0	0	0	6204	1203	42	3	1486	3	GAD2	10	26581439	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1307654	26581439	108953308	106	13891											
FAM13C	220965	genome.wustl.edu	37	chr10	61014112	61014112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtatcctgacttacaattGttggaataagggaaggtgtt	13	13	11	4	0	0	1	0	1	0	0	1	3	1	3	1	3	1	3	1	3	7	6	rs148740536		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr10:61014112G>T	ENST00000373868.2	-	11	1415	c.1328C>A	c.(1327-1329)aCa>aAa	p.T443K	FAM13C_ENST00000277705.6_Missense_Mutation_p.T464K|FAM13C_ENST00000468840.2_Missense_Mutation_p.T360K|FAM13C_ENST00000373867.3_Missense_Mutation_p.T360K|FAM13C_ENST00000442566.3_Missense_Mutation_p.T464K|FAM13C_ENST00000435852.2_Missense_Mutation_p.T443K|FAM13C_ENST00000419214.2_Missense_Mutation_p.T345K|FAM13C_ENST00000422313.2_Missense_Mutation_p.T443K	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	443										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTTACAATTGTTGGAATAAG	0.378																																																	0													265	255	259					10																	61014112		2203	4300	6503	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1328C>A	10.37:g.61014112G>T	ENSP00000362975:p.Thr443Lys		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.T443K	ENST00000373868.2	37	c.1328	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	G	2.857	-0.236919	0.05944	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.51574	0.82;0.79;0.76;0.84;0.78;0.7	5.51	4.6	0.57074	.	0.076160	0.56097	D	0.000038	T	0.67970	0.2950	M	0.70275	2.135	0.44702	D	0.997699	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.989;0.996;0.999	T	0.72465	-0.4285	10	0.72032	D	0.01	-12.0088	15.6938	0.77477	0.0:0.0:0.8619:0.1381	.	443;360;443;345;443	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	K	360;443;464;464;345;360;443;443	ENSP00000362975:T443K;ENSP00000395661:T464K;ENSP00000277705:T464K;ENSP00000391993:T345K;ENSP00000392302:T443K;ENSP00000400241:T443K	ENSP00000277705:T464K	T	-	2	0	FAM13C	60684118	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	4.939000	0.63526	1.304000	0.44892	-0.324000	0.08512	ACA	FAM13C	-	NULL	ENSG00000148541		0.378	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2		0	93	0	G			61014112	-1			no_errors	ENST00000373868	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	61014112	G	T	61014112	3	4	56	1	0	0	0	0	1	0	0	0	5473	1377	48	3	445	3	FAM13C	10	61014112	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	34432673	61014112	74520635	107	13892											
TET1	80312	genome.wustl.edu	37	chr10	70432744	70432744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtactttaatggctgtaAgtttggtagaagcccaagcc	11	13	10	7	0	0	1	0	0	0	1	0	1	0	1	2	2	3	5	2	2	7	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr10:70432744A>C	ENST00000373644.4	+	8	4975	c.4766A>C	c.(4765-4767)aAg>aCg	p.K1589T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1589	Interaction with DNA. {ECO:0000250}.				chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATGGCTGTAAGTTTGGTAGA	0.378																																																	0													158	149	152					10																	70432744		2203	4300	6503	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4766A>C	10.37:g.70432744A>C	ENSP00000362748:p.Lys1589Thr		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.K1589T	ENST00000373644.4	37	c.4766	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	A	24.4	4.531151	0.85706	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.14766	2.48	5.36	5.36	0.76844	TET cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.84219	2.685	0.53688	D	0.999972	D	0.61080	0.989	D	0.65140	0.932	T	0.40572	-0.9556	10	0.87932	D	0	.	15.6332	0.76929	1.0:0.0:0.0:0.0	.	1589	Q8NFU7	TET1_HUMAN	T	1589;61	ENSP00000362748:K1589T	ENSP00000362748:K1589T	K	+	2	0	TET1	70102750	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.244000	0.95423	2.155000	0.67459	0.477000	0.44152	AAG	TET1	-	NULL	ENSG00000138336		0.378	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0	82	0	A	NM_030625		70432744	1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	22.22	56	16	SNP	1.000	C	C	70432744	A	C	70432744	3	2	56	1	0	0	0	0	1	0	0	0	15816	72	3	4	4792	4	TET1	10	70432744	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	9418632	70432744	65102003	108	13893											
PIK3AP1	118788	genome.wustl.edu	37	chr10	98412497	98412497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcattctccaccttggCttccatccttacagagggag	8	12	8	13	0	2	1	1	0	1	1	5	2	4	2	4	2	2	2	4	2	2	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr10:98412497C>T	ENST00000339364.5	-	4	789	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A46T	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	224	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCACCTTGGCTTCCATCCTT	0.463																																																	0													162	151	154					10																	98412497		2203	4300	6503	SO:0001583	missense	0			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.670G>A	10.37:g.98412497C>T	ENSP00000339826:p.Ala224Thr		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.A224T	ENST00000339364.5	37	c.670	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.369118	0.95900	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.18960	2.87;2.18	6.03	6.03	0.97812	DBB domain (1);	0.282684	0.39544	N	0.001327	T	0.26159	0.0638	L	0.53249	1.67	0.80722	D	1	P	0.43477	0.808	B	0.41813	0.367	T	0.00636	-1.1633	10	0.30854	T	0.27	-8.2234	17.7156	0.88336	0.0:1.0:0.0:0.0	.	224	Q6ZUJ8	BCAP_HUMAN	T	224;46	ENSP00000339826:A224T;ENSP00000360151:A46T	ENSP00000339826:A224T	A	-	1	0	PIK3AP1	98402487	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.404000	0.73268	2.868000	0.98415	0.555000	0.69702	GCC	PIK3AP1	-	NULL	ENSG00000155629		0.463	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	-	0	56	0	C	NM_152309		98412497	-1	tier1	-	no_errors	ENST00000339364	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	98412497	C	T	98412497	3	4	56	1	0	0	0	0	1	0	0	0	11947	797	28	3	1803	3	PIK3AP1	10	98412497	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	27979753	98412497	37122250	109	13894											
MUC5B	727897	genome.wustl.edu	37	chr11	1247857	1247857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagccctgaacccggCgcacaatgggcgggtgtgca	8	4	13	16	3	0	1	0	1	0	0	0	1	0	1	4	3	3	2	4	3	2	0	rs369252177		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:1247857C>T	ENST00000529681.1	+	4	270	c.212C>T	c.(211-213)gCg>gTg	p.A71V	MUC5B_ENST00000447027.1_Missense_Mutation_p.A71V	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	71					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGAACCCGGCGCACAATGGG	0.647																																																	0								C	VAL/ALA	1,4137		0,1,2068	22	23	22		212	3.5	0	11		22	0,8374		0,0,4187	no	missense	MUC5B	NM_002458.2	64	0,1,6255	TT,TC,CC		0.0,0.0242,0.0080	benign	71/5763	1247857	1,12511	2069	4187	6256	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.212C>T	11.37:g.1247857C>T	ENSP00000436812:p.Ala71Val		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A71V	ENST00000529681.1	37	c.212	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481724	0.26598	2.42E-4	0.0	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16743	2.32;2.51	3.54	3.54	0.40534	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.15262	0.0368	L	0.54323	1.7	0.09310	N	1	B;P;P	0.43885	0.136;0.82;0.82	B;B;B	0.34590	0.027;0.186;0.186	T	0.16867	-1.0388	9	0.87932	D	0	.	9.1885	0.37184	0.0:0.8987:0.0:0.1013	.	71;727;71	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	V	71;71;71;104	ENSP00000436812:A71V;ENSP00000415793:A71V	ENSP00000343037:A71V	A	+	2	0	MUC5B	1204433	0.017000	0.18338	0.032000	0.17829	0.012000	0.07955	1.598000	0.36740	1.813000	0.52934	0.561000	0.74099	GCG	MUC5B	-	smart_VWF_type-D	ENSG00000117983		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2		0	37	0	C	XM_001126093		1247857	1			no_errors	ENST00000447027	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.009	T	T	1247857	C	T	1247857	3	4	56	1	0	0	0	0	1	0	0	0	10017	768	27	1	226	1	MUC5B	11	1247857	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		1247857	133758659	110	13895											
ART1	417	genome.wustl.edu	37	chr11	3681398	3681398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcagtttggtgaggacAccttcttcggcatctggacc	7	10	11	13	1	2	1	0	1	2	0	3	3	2	3	3	4	1	3	3	4	0	3	rs199558962		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:3681398A>G	ENST00000250693.1	+	3	750	c.649A>G	c.(649-651)Acc>Gcc	p.T217A		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	217					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		TGGTGAGGACACCTTCTTCGG	0.632																																																	0													45	41	42					11																	3681398		2201	4298	6499	SO:0001583	missense	0			S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"CD molecules"	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.649A>G	11.37:g.3681398A>G	ENSP00000250693:p.Thr217Ala		Q6NTD2|Q96KT9	Missense_Mutation	SNP	pfam_ART,prints_ART	p.T217A	ENST00000250693.1	37	c.649	CCDS7744.1	11	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385119	0.61956	.	.	ENSG00000129744	ENST00000250693	T	0.12465	2.68	5.41	4.21	0.49690	.	0.205234	0.52532	N	0.000080	T	0.34077	0.0885	M	0.84156	2.68	0.38362	D	0.944627	D	0.63046	0.992	D	0.63192	0.912	T	0.29731	-1.0002	9	.	.	.	.	9.4462	0.38699	0.841:0.0:0.0:0.159	.	217	P52961	NAR1_HUMAN	A	217	ENSP00000250693:T217A	.	T	+	1	0	ART1	3637974	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.776000	0.55356	2.048000	0.60808	0.460000	0.39030	ACC	ART1	-	pfam_ART,prints_ART	ENSG00000129744		0.632	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART1	HGNC	protein_coding	OTTHUMT00000032765.1	-	0	46	0	A	NM_004314		3681398	1	tier1	rs199558962	no_errors	ENST00000250693	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G	G	3681398	A	G	3681398	3	3	56	1	0	0	0	0	1	0	0	0	998	159	6	4	655	4	ART1	11	3681398	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	2433541	3681398	131325118	111	13896											
PIK3C2A	5286	genome.wustl.edu	37	chr11	17134183	17134183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccattgtgacttttagggGgacagcattagaactgaaga	13	10	11	7	0	0	4	0	2	0	2	0	5	0	5	1	2	2	1	1	2	4	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:17134183G>A	ENST00000265970.7	-	20	3351	c.3352C>T	c.(3352-3354)Ccc>Tcc	p.P1118S	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.P738S|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1118					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						ACTTTTAGGGGGACAGCATTA	0.328																																																	0													131	131	131					11																	17134183		2200	4293	6493	SO:0001583	missense	0			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3352C>T	11.37:g.17134183G>A	ENSP00000265970:p.Pro1118Ser		B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.P1118S	ENST00000265970.7	37	c.3352	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.160614	0.94727	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	D;D	0.86769	-2.17;-2.17	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94735	0.8301	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94857	0.8018	10	0.87932	D	0	-8.1102	20.1012	0.97876	0.0:0.0:1.0:0.0	.	1118	O00443	P3C2A_HUMAN	S	1118;738	ENSP00000265970:P1118S;ENSP00000438687:P738S	ENSP00000265970:P1118S	P	-	1	0	PIK3C2A	17090759	1.000000	0.71417	0.983000	0.44433	0.954000	0.61252	9.618000	0.98365	2.754000	0.94517	0.650000	0.86243	CCC	PIK3C2A	-	superfamily_Kinase-like_dom	ENSG00000011405		0.328	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	-	0	23	0	G	NM_002645		17134183	-1	tier1	-	no_errors	ENST00000265970	ensembl	human	known	74_37	missense	28.57	9	4	SNP	1.000	A	A	17134183	G	A	17134183	3	1	56	1	0	0	0	0	1	0	0	0	11948	1232	43	3	1760	3	PIK3C2A	11	17134183	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	13452785	17134183	117872333	112	13897											
FOLH1	2346	genome.wustl.edu	37	chr11	49214356	49214356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttacctctggcattcCttgaggagagaaagcactga	10	13	10	8	0	1	3	0	2	1	1	2	5	2	4	2	2	2	3	2	2	2	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:49214356C>T	ENST00000256999.2	-	4	762	c.502G>A	c.(502-504)Gga>Aga	p.G168R	FOLH1_ENST00000340334.7_Missense_Mutation_p.G153R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G153R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G168R|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	168					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TCTGGCATTCCTTGAGGAGAG	0.378																																																	0													86	91	90					11																	49214356		2201	4297	6498	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.502G>A	11.37:g.49214356C>T	ENSP00000256999:p.Gly168Arg		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.G168R	ENST00000256999.2	37	c.502	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106961	0.77096	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	3.45	3.45	0.39498	Protease-associated domain, PA (1);	0.000000	0.48767	D	0.000179	T	0.81688	0.4875	H	0.98407	4.225	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.995;0.993;0.999	D	0.87941	0.2717	10	0.87932	D	0	.	12.5174	0.56040	0.0:1.0:0.0:0.0	.	153;153;153;168;168	Q04609-9;Q04609-7;A4UU13;Q04609-8;Q04609	.;.;.;.;FOLH1_HUMAN	R	168;168;153;153;168	ENSP00000256999:G168R;ENSP00000349129:G168R;ENSP00000344131:G153R;ENSP00000431463:G153R	ENSP00000256999:G168R	G	-	1	0	FOLH1	49170932	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.696000	0.74598	1.781000	0.52344	0.400000	0.26472	GGA	FOLH1	-	pfam_Protease-assoc_domain	ENSG00000086205		0.378	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	96	0	C	NM_004476		49214356	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	T	T	49214356	C	T	49214356	3	4	56	1	0	0	0	0	1	0	0	0	6001	690	24	3	1814	3	FOLH1	11	49214356	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	32080173	49214356	85792160	113	13898											
OR4A15	81328	genome.wustl.edu	37	chr11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcttatgctgttggCggcctggattggaggctttc	3	16	14	8	1	1	0	0	0	1	0	2	2	1	2	1	5	1	4	1	5	1	5	rs374555766		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:55135883C>T	ENST00000314706.3	+	1	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443																																																	0								C	VAL/ALA	0,4402		0,0,2201	230	206	214		524	0.9	0	11		214	1,8591		0,1,4295	no	missense	OR4A15	NM_001005275.1	64	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign	175/345	55135883	1,12993	2201	4296	6497	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"GPCR / Class A : Olfactory receptors"	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.524C>T	11.37:g.55135883C>T	ENSP00000325065:p.Ala175Val		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A175V	ENST00000314706.3	37	c.524	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.404654	0.00195	0.0	1.16E-4	ENSG00000181958	ENST00000314706	T	0.36878	1.23	3.48	0.889	0.19212	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09261	N	0.826617	T	0.13329	0.0323	N	0.05031	-0.125	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31558	-0.9939	10	0.02654	T	1	.	4.4129	0.11441	0.0:0.1165:0.4033:0.4802	.	175	Q8NGL6	O4A15_HUMAN	V	175	ENSP00000325065:A175V	ENSP00000325065:A175V	A	+	2	0	OR4A15	54892459	0.000000	0.05858	0.028000	0.17463	0.200000	0.23975	-0.127000	0.10547	0.012000	0.14892	-0.487000	0.04747	GCG	OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181958		0.443	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0	147	0	C	NM_001005275		55135883	1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	15.56	114	21	SNP	0.000	T	T	55135883	C	T	55135883	3	4	56	1	0	0	0	0	1	0	0	0	11079	768	27	1	526	1	OR4A15	11	55135883	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	5921527	55135883	79870633	114	13899											
OR5D13	390142	genome.wustl.edu	37	chr11	55541165	55541165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagttacacctaaactgttGgagaacttggttgtggaata	12	13	11	5	0	0	1	0	0	0	1	0	3	0	2	1	3	3	4	1	3	7	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:55541165G>T	ENST00000361760.1	+	1	252	c.252G>T	c.(250-252)ttG>ttT	p.L84F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTAAACTGTTGGAGAACTTGG	0.378																																																	0													175	167	170					11																	55541165		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.252G>T	11.37:g.55541165G>T	ENSP00000354800:p.Leu84Phe		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L84F	ENST00000361760.1	37	c.252	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900529	0.17686	.	.	ENSG00000198877	ENST00000361760	T	0.10668	2.85	3.52	-1.63	0.08345	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27604	U	0.018624	T	0.33089	0.0851	H	0.94620	3.56	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.10706	-1.0618	10	0.72032	D	0.01	-10.7529	3.3593	0.07181	0.3742:0.0:0.3343:0.2915	.	84	Q8NGL4	OR5DD_HUMAN	F	84	ENSP00000354800:L84F	ENSP00000354800:L84F	L	+	3	2	OR5D13	55297741	0.000000	0.05858	0.008000	0.14137	0.013000	0.08279	-1.759000	0.01808	-0.155000	0.11098	0.486000	0.48141	TTG	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198877		0.378	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0	61	0	G	NM_001001967		55541165	1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	26.56	47	17	SNP	0.001	T	T	55541165	G	T	55541165	3	4	56	1	0	0	0	0	1	0	0	0	11193	1339	47	3	254	3	OR5D13	11	55541165	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	405282	55541165	79465351	115	13900											
OR5M3	219482	genome.wustl.edu	37	chr11	56237921	56237921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaacttgccattctcgaCggctcgttagccccaaaaga	12	8	9	12	3	1	2	0	0	1	2	3	4	1	2	3	1	3	2	3	1	4	3	rs142752109		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:56237921C>T	ENST00000312240.2	-	1	93	c.53G>A	c.(52-54)cGt>cAt	p.R18H		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R18H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CCATTCTCGACGGCTCGTTAG	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	79	69	72		53	-10	0	11	dbSNP_134	72	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR5M3	NM_001004742.2	29	0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154	benign	18/308	56237921	2,12990	2201	4295	6496	SO:0001583	missense	0			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.53G>A	11.37:g.56237921C>T	ENSP00000312208:p.Arg18His		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R18H	ENST00000312240.2	37	c.53	CCDS31532.1	11	.	.	.	.	.	.	.	.	.	.	C	0.456	-0.891453	0.02491	2.27E-4	1.16E-4	ENSG00000174937	ENST00000312240	T	0.01084	5.36	5.0	-10.0	0.00425	.	1.480890	0.04545	N	0.388897	T	0.00815	0.0027	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.40646	-0.9552	10	0.27785	T	0.31	3.2324	13.3653	0.60680	0.0:0.1922:0.139:0.6688	.	18	Q8NGP4	OR5M3_HUMAN	H	18	ENSP00000312208:R18H	ENSP00000312208:R18H	R	-	2	0	OR5M3	55994497	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-8.692000	0.00017	-3.524000	0.00147	-1.708000	0.00717	CGT	OR5M3	-	NULL	ENSG00000174937		0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1	-	0	47	0	C	NM_001004742		56237921	-1	tier1	rs142752109	no_errors	ENST00000312240	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.000	T	T	56237921	C	T	56237921	3	4	56	1	0	0	0	0	1	0	0	0	11214	536	19	1	872	1	OR5M3	11	56237921	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	696756	56237921	78768595	116	13901											
TMX2	51075	genome.wustl.edu	37	chr11	57506730	57506730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtctcatggaccttctctGaggtacctgaaaggaagggc	9	10	12	10	0	2	2	1	2	2	0	4	4	2	4	2	4	1	1	2	4	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:57506730G>A	ENST00000278422.4	+	7	754	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RP11-691N7.6_ENST00000531074.1_5'Flank|TMX2-CTNND1_ENST00000528395.1_Intron|C11orf31_ENST00000388857.4_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.E210K|C11orf31_ENST00000534355.1_5'Flank	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	248	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GACCTTCTCTGAGGTACCTGA	0.557																																																	0													88	75	79					11																	57506730		2201	4296	6497	SO:0001583	missense	0			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"Protein disulfide isomerases"	30739	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 12"		"thioredoxin domain containing 14"	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.742G>A	11.37:g.57506730G>A	ENSP00000278422:p.Glu248Lys		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.E248K	ENST00000278422.4	37	c.742	CCDS7967.1	11	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600651	0.66332	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.44083	0.93	5.35	5.35	0.76521	Thioredoxin-like fold (1);	0.125339	0.52532	U	0.000063	T	0.42017	0.1184	L	0.38953	1.18	0.80722	D	1	P;B	0.50528	0.936;0.402	P;B	0.49140	0.601;0.102	T	0.13953	-1.0490	9	.	.	.	-13.6307	14.3155	0.66446	0.0:0.1484:0.8516:0.0	.	210;248	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	K	210;248	ENSP00000367562:E210K	.	E	+	1	0	TMX2	57263306	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.328000	0.79160	2.503000	0.84419	0.561000	0.74099	GAG	TMX2	-	NULL	ENSG00000213593		0.557	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMX2	HGNC	protein_coding	OTTHUMT00000393708.1		0	39	0	G	NM_015959		57506730	1			no_errors	ENST00000278422	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	A	A	57506730	G	A	57506730	3	1	56	1	0	0	0	0	1	0	0	0	16314	1291	45	3	768	3	TMX2	11	57506730	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1268809	57506730	77499786	117	13902											
NRXN2	9379	genome.wustl.edu	37	chr11	64434787	64434787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaccttgcggctggatGcccgcagcttgatgccccca	6	9	11	15	2	0	2	0	2	0	0	0	3	0	3	4	2	4	3	4	2	0	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:64434787G>A	ENST00000377551.1	-	8	1944	c.1733C>T	c.(1732-1734)gCa>gTa	p.A578V	NRXN2_ENST00000265459.6_Missense_Mutation_p.A578V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A571V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A547V			Q9P2S2	NRX2A_HUMAN	neurexin 2	578	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCGGCTGGATGCCCGCAGCTT	0.602																																																	0													94	83	87					11																	64434787		2201	4297	6498	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1733C>T	11.37:g.64434787G>A	ENSP00000366774:p.Ala578Val		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A578V	ENST00000377551.1	37	c.1733	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545526	0.65198	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42053	U	0.000780	T	0.74351	0.3705	L	0.28608	0.87	0.58432	D	0.999998	P;P;B	0.49090	0.919;0.83;0.153	B;P;B	0.49085	0.288;0.6;0.124	T	0.78033	-0.2362	10	0.62326	D	0.03	.	15.0038	0.71495	0.0:0.0:1.0:0.0	.	547;578;324	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	578;547;578;547;571	ENSP00000366774:A578V;ENSP00000366782:A547V;ENSP00000265459:A578V;ENSP00000386416:A571V	ENSP00000265459:A578V	A	-	2	0	NRXN2	64191363	1.000000	0.71417	0.959000	0.39883	0.992000	0.81027	7.773000	0.85462	2.392000	0.81423	0.462000	0.41574	GCA	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.602	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0	51	0	G	NM_015080		64434787	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	42.55	27	20	SNP	0.996	A	A	64434787	G	A	64434787	3	1	56	1	0	0	0	0	1	0	0	0	10705	1319	46	3	3734	3	NRXN2	11	64434787	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	6928057	64434787	70571729	118	13903											
MAP3K11	399909	genome.wustl.edu	37	chr11	65380856	65380856	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgccaaagcctccaatGccgatcacctcctccagccg	9	7	6	19	2	1	0	1	0	0	0	4	1	4	0	9	0	4	0	9	0	2	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr11:65380856G>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Silent_p.G124G|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCCTCCAATGCCGATCACCT	0.652																																																	0													37	41	40					11																	65380856		2199	4291	6490	SO:0001631	upstream_gene_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380856G>A	Exception_encountered		Q6MZN8	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G124	ENST00000355703.3	37	c.372	CCDS44650.1	11																																																																																			MAP3K11	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000173327		0.652	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	95	0	G	NM_032223		65380856	-1	tier1	-	no_errors	ENST00000309100	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.984	A	A	65380856	G	A	65380856	1	1	56	0	1	0	0	0	0	0	0	0	9283	1306	46	3		3	MAP3K11	11	65380856	5'Flank	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	946069	65380856	69625660	119	13904											
ABCC9	10060	genome.wustl.edu	37	chr12	21960336	21960336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aataagaatgctgcttttgcGgacaaaggccctggcaaggc	12	8	12	9	1	0	1	0	0	0	1	0	2	0	2	1	4	3	3	1	4	5	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:21960336G>A	ENST00000261201.4	-	36	4392	c.4393C>T	c.(4393-4395)Cgc>Tgc	p.R1465C	ABCC9_ENST00000345162.2_Missense_Mutation_p.R1429C|ABCC9_ENST00000261200.4_Missense_Mutation_p.R1465C	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1465	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CTGCTTTTGCGGACAAAGGCC	0.438																																																	0													158	145	149					12																	21960336		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.4393C>T	12.37:g.21960336G>A	ENSP00000261201:p.Arg1465Cys		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.R1465C	ENST00000261201.4	37	c.4393	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973723	0.74246	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.15	5.15	0.70609	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.96950	0.9004	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97379	0.9981	10	0.87932	D	0	-10.9657	18.8248	0.92114	0.0:0.0:1.0:0.0	.	1465;1465	O60706;O60706-2	ABCC9_HUMAN;.	C	1465;1092;1465;1429	ENSP00000261200:R1465C;ENSP00000440521:R1092C;ENSP00000261201:R1465C;ENSP00000261202:R1429C	ENSP00000261200:R1465C	R	-	1	0	ABCC9	21851603	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	4.070000	0.57548	2.654000	0.90174	0.655000	0.94253	CGC	ABCC9	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.438	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	61	0	G	NM_005691		21960336	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	21960336	G	A	21960336	3	1	56	1	0	0	0	0	1	0	0	0	59	1116	39	1	410	1	ABCC9	12	21960336	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		21960336	111891559	120	13905											
DENND5B	160518	genome.wustl.edu	37	chr12	31595786	31595786	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatatttgccttgaccAattttcatatcaagtagatg	11	16	6	8	0	3	2	3	1	0	1	3	2	3	2	2	0	2	2	2	0	5	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:31595786A>G	ENST00000389082.5	-	7	2199	c.1935T>C	c.(1933-1935)atT>atC	p.I645I	DENND5B_ENST00000306833.6_Silent_p.I680I|DENND5B_ENST00000354285.4_Silent_p.I667I|DENND5B_ENST00000536562.1_Silent_p.I680I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	645					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGCCTTGACCAATTTTCATAT	0.378																																																	0													87	84	85					12																	31595786		1880	4135	6015	SO:0001819	synonymous_variant	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1935T>C	12.37:g.31595786A>G			B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.I680	ENST00000389082.5	37	c.2040	CCDS44857.1	12																																																																																			DENND5B	-	NULL	ENSG00000170456		0.378	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	-	0	88	0	A	NM_144973		31595786	-1	tier1	-	no_errors	ENST00000306833	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.996	G	G	31595786	A	G	31595786	2	3	56	1	0	0	0	0	0	0	0	1	4451	126	5	4		4	DENND5B	12	31595786	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	9635450	31595786	102256109	121	13906											
MLL2	8085	genome.wustl.edu	37	chr12	49420963	49420963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaccaagggctcagtaGggggactggcaggagaaggt	11	6	17	7	0	2	1	2	0	0	1	2	3	2	2	1	6	1	4	1	6	4	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:49420963G>T	ENST00000301067.7	-	48	14785	c.14786C>A	c.(14785-14787)cCt>cAt	p.P4929H		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4929	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P4929fs*66(1)|p.P4659fs*66(1)									GGGCTCAGTAGGGGGACTGGC	0.627																																																	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)											34	40	38					12																	49420963		1904	4088	5992	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14786C>A	12.37:g.49420963G>T	ENSP00000301067:p.Pro4929His		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.P4929H	ENST00000301067.7	37	c.14786	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	7.183	0.589957	0.13812	.	.	ENSG00000167548	ENST00000301067	T	0.80304	-1.36	4.21	3.32	0.38043	.	0.221910	0.23303	N	0.049655	T	0.59636	0.2208	N	0.08118	0	0.21822	N	0.999529	P	0.46327	0.876	B	0.36186	0.219	T	0.58323	-0.7656	10	0.87932	D	0	.	11.0604	0.47944	0.0927:0.0:0.9073:0.0	.	4929	O14686	MLL2_HUMAN	H	4929	ENSP00000301067:P4929H	ENSP00000301067:P4929H	P	-	2	0	MLL2	47707230	0.654000	0.27367	0.985000	0.45067	0.920000	0.55202	3.080000	0.50112	1.136000	0.42199	0.650000	0.86243	CCT	KMT2D	-	NULL	ENSG00000167548		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	40	0	G			49420963	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.816	T	T	49420963	G	T	49420963	3	4	56	1	0	0	0	0	1	0	0	0	9659	1000	35	3	1855	3	MLL2	12	49420963	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	17825177	49420963	84430932	122	13907											
NACA	4666	genome.wustl.edu	37	chr12	57112994	57112994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtagcagaagcaccagagtCctcagttgggcactctttgg	10	9	12	10	0	2	2	1	0	1	2	3	2	3	2	2	2	2	5	2	2	2	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:57112994C>G	ENST00000454682.1	-	3	2601	c.2320G>C	c.(2320-2322)Gac>Cac	p.D774H	NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	774	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCACCAGAGTCCTCAGTTGGG	0.488			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													44	41	42					12																	57112994		1568	3582	5150	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2320G>C	12.37:g.57112994C>G	ENSP00000403817:p.Asp774His			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.D774H	ENST00000454682.1	37	c.2320		12	.	.	.	.	.	.	.	.	.	.	C	10.18	1.279237	0.23307	.	.	ENSG00000196531	ENST00000454682	T	0.58060	0.36	1.95	1.95	0.26073	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.19775	N	0.999958	D	0.67145	0.996	P	0.55112	0.769	T	0.42632	-0.9440	7	.	.	.	.	7.9032	0.29746	0.0:1.0:0.0:0.0	.	774	E9PAV3	.	H	774	ENSP00000403817:D774H	.	D	-	1	0	NACA	55399261	0.002000	0.14202	0.609000	0.28983	0.680000	0.39746	0.350000	0.20079	1.039000	0.40074	0.449000	0.29647	GAC	NACA	-	NULL	ENSG00000196531		0.488	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding			0	23	0	C	NM_005594		57112994	-1			no_errors	ENST00000454682	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.784	G	G	57112994	C	G	57112994	3	3	56	1	0	0	0	0	1	0	0	0	10171	855	30	5	3944	5	NACA	12	57112994	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	7692031	57112994	76738901	123	13908											
OS9	10956	genome.wustl.edu	37	chr12	58113911	58113911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcacagagtccgggtcCgggtcaccaagctccgtctc	7	7	12	15	3	2	2	1	1	1	1	6	2	5	2	4	2	2	2	4	2	1	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:58113911C>T	ENST00000315970.7	+	13	1671	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	OS9_ENST00000389142.5_Intron|OS9_ENST00000389146.6_Missense_Mutation_p.R529W|OS9_ENST00000413095.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000439210.2_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Intron|OS9_ENST00000551035.1_Intron|OS9_ENST00000552285.1_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	544					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGTCCGGGTCCGGGTCACCAA	0.572																																																	0													84	85	84					12																	58113911		2203	4300	6503	SO:0001583	missense	0			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"endoplasmic reticulum lectin 2", "erlectin 2"	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1630C>T	12.37:g.58113911C>T	ENSP00000318165:p.Arg544Trp		A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.R544W	ENST00000315970.7	37	c.1630	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316366	0.81469	.	.	ENSG00000135506	ENST00000315970;ENST00000389146	T;T	0.37235	1.23;1.21	5.01	5.01	0.66863	.	0.056037	0.64402	D	0.000002	T	0.47340	0.1440	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	T	0.47368	-0.9123	10	0.87932	D	0	.	13.6794	0.62474	0.0:1.0:0.0:0.0	.	529;544	A6NLB2;Q13438	.;OS9_HUMAN	W	544;529	ENSP00000318165:R544W;ENSP00000373798:R529W	ENSP00000318165:R544W	R	+	1	2	OS9	56400178	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	1.443000	0.35057	2.599000	0.87857	0.655000	0.94253	CGG	OS9	-	NULL	ENSG00000135506		0.572	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	-	0	43	0	C	NM_006812		58113911	1	tier1	-	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	T	T	58113911	C	T	58113911	3	4	56	1	0	0	0	0	1	0	0	0	11311	643	23	1	1680	1	OS9	12	58113911	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	1000917	58113911	75737984	124	13909											
TRHDE	29953	genome.wustl.edu	37	chr12	73014977	73014977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcttgttcaagcatcctaCcaacatgagtactgttttat	10	16	5	10	0	2	1	1	1	1	0	4	1	3	1	2	0	4	4	2	0	5	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:73014977C>T	ENST00000261180.4	+	14	2520	c.2424C>T	c.(2422-2424)taC>taT	p.Y808Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	808					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGCATCCTACCAACATGAGT	0.353																																																	0													113	101	105					12																	73014977		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2424C>T	12.37:g.73014977C>T			A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Y808	ENST00000261180.4	37	c.2424	CCDS9004.1	12																																																																																			TRHDE	-	NULL	ENSG00000072657		0.353	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	59	0	C	NM_013381		73014977	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	silent	28.57	45	18	SNP	1.000	T	T	73014977	C	T	73014977	2	4	56	1	0	0	0	0	0	0	0	1	16527	518	18	3		3	TRHDE	12	73014977	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	14901066	73014977	60836918	125	13910											
PPFIA2	8499	genome.wustl.edu	37	chr12	81657153	81657153	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttgatccacgtctgAagttcttgtcatcactctgc	7	14	8	12	1	5	2	2	2	3	0	7	2	7	2	2	1	1	2	2	1	1	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:81657153A>C	ENST00000549396.1	-	31	3732	c.3572T>G	c.(3571-3573)tTc>tGc	p.F1191C	PPFIA2_ENST00000552948.1_Missense_Mutation_p.F1170C|PPFIA2_ENST00000550584.2_Missense_Mutation_p.F1191C|PPFIA2_ENST00000333447.7_Missense_Mutation_p.F1179C|PPFIA2_ENST00000548586.1_Missense_Mutation_p.F1185C|PPFIA2_ENST00000550359.2_Missense_Mutation_p.F1038C|PPFIA2_ENST00000541570.2_Missense_Mutation_p.F727C|PPFIA2_ENST00000541017.1_Missense_Mutation_p.F377C|PPFIA2_ENST00000443686.3_Missense_Mutation_p.F1086C|PPFIA2_ENST00000549325.1_Missense_Mutation_p.F1176C|PPFIA2_ENST00000407050.4_Missense_Mutation_p.F1090C|PPFIA2_ENST00000545296.2_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1191					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCACGTCTGAAGTTCTTGTC	0.433																																																	0													96	92	93					12																	81657153		1950	4152	6102	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3572T>G	12.37:g.81657153A>C	ENSP00000450337:p.Phe1191Cys		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.F1191C	ENST00000549396.1	37	c.3572	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	A	18.99	3.739740	0.69304	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.39406	1.68;1.63;1.42;1.08;1.47;1.64;1.67;1.33;1.79	5.24	5.24	0.73138	.	0.116668	0.64402	D	0.000017	T	0.41236	0.1150	M	0.66297	2.02	0.58432	D	0.999999	P	0.44344	0.833	B	0.39185	0.293	T	0.47724	-0.9095	10	0.72032	D	0.01	-12.8067	10.9554	0.47354	0.8599:0.0:0.0:0.1401	.	1191	O75334	LIPA2_HUMAN	C	1191;1176;727;377;1090;1204;1179;1185;1086;1170	ENSP00000450337:F1191C;ENSP00000450298:F1176C;ENSP00000438337:F727C;ENSP00000445532:F377C;ENSP00000385093:F1090C;ENSP00000327416:F1179C;ENSP00000449338:F1185C;ENSP00000388373:F1086C;ENSP00000447868:F1170C	ENSP00000327416:F1179C	F	-	2	0	PPFIA2	80181284	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.293000	0.78740	1.976000	0.57569	0.477000	0.44152	TTC	PPFIA2	-	NULL	ENSG00000139220		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	30	0	A			81657153	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	C	C	81657153	A	C	81657153	3	2	56	1	0	0	0	0	1	0	0	0	12349	246	9	4	209	4	PPFIA2	12	81657153	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	8642176	81657153	52194742	126	13911											
POC1B	282809	genome.wustl.edu	37	chr12	89865998	89865998	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatttgtggtatcccaaatTttaatagttttatcctcact	10	20	4	7	0	1	0	1	0	0	0	3	0	3	0	2	1	0	2	2	1	6	8			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:89865998T>G	ENST00000313546.3	-	5	635	c.507A>C	c.(505-507)aaA>aaC	p.K169N	POC1B_ENST00000378528.2_Missense_Mutation_p.K39N|POC1B_ENST00000549035.1_Missense_Mutation_p.K127N|POC1B_ENST00000541909.1_Missense_Mutation_p.K39N|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000393179.4_Missense_Mutation_p.K39N	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	169					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TATCCCAAATTTTAATAGTTT	0.348																																																	0													134	130	132					12																	89865998		2203	4300	6503	SO:0001583	missense	0			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.507A>C	12.37:g.89865998T>G	ENSP00000323302:p.Lys169Asn		G3V1X0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K169N	ENST00000313546.3	37	c.507	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	T	19.20	3.780776	0.70222	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000378528;ENST00000549035;ENST00000541909	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.044035	0.85682	D	0.000000	T	0.65281	0.2676	M	0.76328	2.33	0.35689	D	0.814685	P	0.43788	0.817	B	0.40534	0.332	T	0.77576	-0.2536	10	0.87932	D	0	.	8.644	0.33994	0.0:0.0683:0.131:0.8007	.	169	Q8TC44	POC1B_HUMAN	N	39;169;39;127;39	ENSP00000376877:K39N;ENSP00000323302:K169N;ENSP00000367789:K39N;ENSP00000447916:K127N;ENSP00000440301:K39N	ENSP00000323302:K169N	K	-	3	2	POC1B	88390129	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.603000	0.24149	2.333000	0.79357	0.533000	0.62120	AAA	POC1B	-	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000139323		0.348	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1		0	60	0	T	NM_172240		89865998	-1			no_errors	ENST00000313546	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	G	G	89865998	T	G	89865998	3	3	56	1	0	0	0	0	1	0	0	0	12215	1838	64	4	961	4	POC1B	12	89865998	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	8208845	89865998	43985897	127	13912											
BTBD11	121551	genome.wustl.edu	37	chr12	108008884	108008884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgtccaccccgagacccGccattggacggctctgactt	7	8	9	17	4	1	2	0	1	1	1	3	4	3	3	6	2	0	1	6	2	0	2	rs140496495		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr12:108008884G>T	ENST00000280758.5	+	7	2474	c.1946G>T	c.(1945-1947)cGc>cTc	p.R649L	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R186L|BTBD11_ENST00000420571.2_Missense_Mutation_p.R649L|BTBD11_ENST00000490090.2_Missense_Mutation_p.R649L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	649						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCCGAGACCCGCCATTGGACG	0.403																																																	0													159	143	148					12																	108008884		2203	4300	6503	SO:0001583	missense	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1946G>T	12.37:g.108008884G>T	ENSP00000280758:p.Arg649Leu		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.R649L	ENST00000280758.5	37	c.1946	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388349	0.82902	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.63744	0.69;-0.06;0.69;0.69	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72334	0.3447	L	0.28649	0.875	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.977	D;D;D;P	0.85130	0.994;0.997;0.997;0.693	T	0.74380	-0.3684	10	0.72032	D	0.01	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	649;186;649;649	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	L	649;649;649;186	ENSP00000280758:R649L;ENSP00000413889:R649L;ENSP00000447319:R649L;ENSP00000349690:R186L	ENSP00000280758:R649L	R	+	2	0	BTBD11	106533014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.848000	0.99507	2.706000	0.92434	0.655000	0.94253	CGC	BTBD11	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151136		0.403	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	-	0	80	0	G	NM_152322		108008884	1	tier1	-	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	108008884	G	T	108008884	3	4	56	1	0	0	0	0	1	0	0	0	1543	1087	38	2	2077	2	BTBD11	12	108008884	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	18142886	108008884	25843011	128	13913											
GJB6	10804	genome.wustl.edu	37	chr13	20796939	20796939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattggggtgatttttttgCgtctgtgctctctttgatct	3	21	11	6	1	3	3	0	3	3	0	4	3	3	3	0	2	2	1	0	2	0	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr13:20796939C>T	ENST00000356192.6	-	5	1301	c.681G>A	c.(679-681)acG>acA	p.T227T	GJB6_ENST00000400066.3_Silent_p.T227T|GJB6_ENST00000241124.6_Silent_p.T227T|GJB6_ENST00000400065.3_Silent_p.T227T	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	227					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GATTTTTTTGCGTCTGTGCTC	0.423																																																	0													225	194	205					13																	20796939		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.681G>A	13.37:g.20796939C>T			B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.T227	ENST00000356192.6	37	c.681	CCDS9291.1	13																																																																																			GJB6	-	NULL	ENSG00000121742		0.423	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB6	HGNC	protein_coding	OTTHUMT00000272906.1		0	35	0	C			20796939	-1			no_errors	ENST00000241124	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.000	T	T	20796939	C	T	20796939	2	4	56	1	0	0	0	0	0	0	0	1	6438	755	27	1		1	GJB6	13	20796939	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		20796939	94372939	129	13914											
SACS	26278	genome.wustl.edu	37	chr13	23905799	23905799	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcgcttcaaaaaagcaaaAgtttcacttctgctgtgggg	13	11	9	8	1	3	0	2	0	1	0	4	0	3	0	0	2	2	4	0	2	6	3	rs574182225		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr13:23905799A>C	ENST00000382292.3	-	9	12489	c.12216T>G	c.(12214-12216)acT>acG	p.T4072T	SACS_ENST00000402364.1_Silent_p.T3322T|SACS_ENST00000382298.3_Silent_p.T4072T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4072					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAAAAGCAAAAGTTTCACTTC	0.363																																																	0													69	66	67					13																	23905799		2203	4299	6502	SO:0001819	synonymous_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12216T>G	13.37:g.23905799A>C			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.T4072	ENST00000382292.3	37	c.12216	CCDS9300.2	13																																																																																			SACS	-	NULL	ENSG00000151835		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	20	0	A	NM_014363		23905799	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.033	C	C	23905799	A	C	23905799	2	2	56	1	0	0	0	0	0	0	0	1	13849	59	3	4		4	SACS	13	23905799	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	3108860	23905799	91264079	130	13915											
CENPJ	55835	genome.wustl.edu	37	chr13	25480207	25480207	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggacaatgaatgaagttGtttgggtgcgacttcacact	11	12	12	6	1	1	3	1	3	0	0	1	5	1	4	0	2	1	2	0	2	3	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr13:25480207G>A	ENST00000381884.4	-	7	2154	c.1969C>T	c.(1969-1971)Caa>Taa	p.Q657*	CENPJ_ENST00000545981.1_Nonsense_Mutation_p.Q657*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	657					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GAATGAAGTTGTTTGGGTGCG	0.458																																																	0													111	106	108					13																	25480207		2203	4300	6503	SO:0001587	stop_gained	0			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"centrosomal P4.1-associated protein"	609279	"microcephaly, primary autosomal recessive 6"	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1969C>T	13.37:g.25480207G>A	ENSP00000371308:p.Gln657*		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Nonsense_Mutation	SNP	pfam_Tcp10_C_dom	p.Q657*	ENST00000381884.4	37	c.1969	CCDS9310.1	13	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315046	0.81358	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	.	.	.	5.77	3.08	0.35506	.	0.958991	0.08704	N	0.905871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	4.8415	0.13492	0.2378:0.0:0.6119:0.1503	.	.	.	.	X	657	.	ENSP00000371308:Q657X	Q	-	1	0	CENPJ	24378207	0.004000	0.15560	0.003000	0.11579	0.021000	0.10359	0.774000	0.26675	0.765000	0.33221	0.655000	0.94253	CAA	CENPJ	-	NULL	ENSG00000151849		0.458	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1	-	0	70	0	G	NM_018451		25480207	-1	tier1	-	no_errors	ENST00000381884	ensembl	human	known	74_37	nonsense	15.38	98	18	SNP	0.000	A	A	25480207	G	A	25480207	4	1	56	1	0	0	0	0	0	1	0	0	3241	1386	48	3	2091	3	CENPJ	13	25480207	Nonsense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1574408	25480207	89689671	131	13916											
NBEA	26960	genome.wustl.edu	37	chr13	35806721	35806721	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccattcctatctcgtacacTtcttggcagtcatggacaag	9	12	7	13	1	3	0	1	0	2	0	5	1	4	1	2	2	1	2	2	2	3	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr13:35806721T>G	ENST00000400445.3	+	34	6275	c.5741T>G	c.(5740-5742)cTt>cGt	p.L1914R	NBEA_ENST00000310336.4_Missense_Mutation_p.L1914R|NBEA_ENST00000540320.1_Missense_Mutation_p.L1914R|NBEA_ENST00000379939.2_Missense_Mutation_p.L1911R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1914					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCTCGTACACTTCTTGGCAGT	0.338																																																	0													58	52	54					13																	35806721		1816	4067	5883	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5741T>G	13.37:g.35806721T>G	ENSP00000383295:p.Leu1914Arg		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.L1914R	ENST00000400445.3	37	c.5741	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	T	24.4	4.524761	0.85600	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.71579	-0.58;-0.57;-0.57;-0.58	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.85935	0.1454	10	0.87932	D	0	.	15.5776	0.76404	0.0:0.0:0.0:1.0	.	1914;1911	Q8NFP9;Q5T321	NBEA_HUMAN;.	R	1914;1914;1911;1914;541	ENSP00000440951:L1914R;ENSP00000383295:L1914R;ENSP00000369271:L1911R;ENSP00000308534:L1914R	ENSP00000308534:L1914R	L	+	2	0	NBEA	34704721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.846000	0.86887	2.093000	0.63338	0.533000	0.62120	CTT	NBEA	-	NULL	ENSG00000172915		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	46	0	T	NM_015678		35806721	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	G	G	35806721	T	G	35806721	3	3	56	1	0	0	0	0	1	0	0	0	10225	1609	56	4	5875	4	NBEA	13	35806721	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	10326514	35806721	79363157	132	13917											
TRIM13	10206	genome.wustl.edu	37	chr13	50586140	50586140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgtttgatgatccacggGttttgccttgctcccacaac	6	14	9	12	1	1	2	0	2	1	0	3	2	3	2	3	1	3	3	3	1	1	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr13:50586140G>A	ENST00000378182.3	+	2	802	c.64G>A	c.(64-66)Gtt>Att	p.V22I	TRIM13_ENST00000420995.2_Missense_Mutation_p.V22I|TRIM13_ENST00000298772.5_Missense_Mutation_p.V25I|TRIM13_ENST00000356017.4_Missense_Mutation_p.V25I|TRIM13_ENST00000457662.2_Missense_Mutation_p.V22I|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	22					anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGATCCACGGGTTTTGCCTTG	0.423																																																	0													143	124	131					13																	50586140		2203	4300	6503	SO:0001583	missense	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9976	protein-coding gene	gene with protein product		605661	"ret finger protein 2", "tripartite motif-containing 13"	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926	ENST00000378182.3:c.64G>A	13.37:g.50586140G>A	ENSP00000367424:p.Val22Ile		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V25I	ENST00000378182.3	37	c.73	CCDS9423.1	13	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464933	0.84425	.	.	ENSG00000204977	ENST00000442421;ENST00000378183;ENST00000420995;ENST00000378182;ENST00000356017;ENST00000457662;ENST00000298772	D;T;T;T;T;T;T	0.92911	-3.13;2.32;2.32;2.32;2.32;2.32;2.32	5.82	5.82	0.92795	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.89935	0.6859	N	0.11023	0.085	0.58432	D	0.999994	D;D	0.56746	0.977;0.971	P;P	0.54238	0.746;0.629	D	0.90077	0.4167	10	0.37606	T	0.19	-7.0843	20.088	0.97803	0.0:0.0:1.0:0.0	.	22;25	O60858;O60858-3	TRI13_HUMAN;.	I	22;22;22;22;25;22;25	ENSP00000404586:V22I;ENSP00000367425:V22I;ENSP00000412943:V22I;ENSP00000367424:V22I;ENSP00000348299:V25I;ENSP00000399206:V22I;ENSP00000298772:V25I	ENSP00000298772:V25I	V	+	1	0	TRIM13	49484141	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.826000	0.99387	2.739000	0.93911	0.655000	0.94253	GTT	TRIM13	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000204977		0.423	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TRIM13	HGNC	protein_coding	OTTHUMT00000354875.1	-	0	43	0	G	NM_001007278		50586140	1	tier1	-	no_errors	ENST00000298772	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	A	A	50586140	G	A	50586140	3	1	56	1	0	0	0	0	1	0	0	0	16536	1261	44	3	79	3	TRIM13	13	50586140	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	14779419	50586140	64583738	133	13918											
LMO7	4008	genome.wustl.edu	37	chr13	76423325	76423325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaggcaacaaatccttcagGaaatgaggaagagaacaccc	18	4	10	9	0	1	3	1	1	0	2	2	6	2	5	2	3	2	1	2	3	5	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr13:76423325G>A	ENST00000321797.8	+	25	4283	c.3562G>A	c.(3562-3564)Gaa>Aaa	p.E1188K	LMO7_ENST00000526202.1_Missense_Mutation_p.E1065K|LMO7_ENST00000357063.3_Missense_Mutation_p.E1473K|LMO7_ENST00000377534.3_Missense_Mutation_p.E1473K|LMO7_ENST00000341547.4_Missense_Mutation_p.E1139K|LMO7_ENST00000465261.2_Missense_Mutation_p.E1188K			Q8WWI1	LMO7_HUMAN	LIM domain 7	1473					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATCCTTCAGGAAATGAGGAA	0.463																																																	0													139	115	123					13																	76423325		2203	4300	6503	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3562G>A	13.37:g.76423325G>A	ENSP00000317802:p.Glu1188Lys		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E1473K	ENST00000321797.8	37	c.4417		13	.	.	.	.	.	.	.	.	.	.	G	36	5.897022	0.97081	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.57907	1.3;0.91;0.92;0.76;0.75;0.37	6.02	6.02	0.97574	.	0.044696	0.85682	D	0.000000	T	0.76506	0.3997	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.967	T	0.74031	-0.3795	10	0.39692	T	0.17	-24.7364	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1065;1139;1188	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	K	1139;1473;1473;1188;1065;1188	ENSP00000342112:E1139K;ENSP00000349571:E1473K;ENSP00000366757:E1473K;ENSP00000317802:E1188K;ENSP00000431129:E1065K;ENSP00000433352:E1188K	ENSP00000317802:E1188K	E	+	1	0	LMO7	75321326	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.261000	0.95576	2.865000	0.98341	0.655000	0.94253	GAA	LMO7	-	NULL	ENSG00000136153		0.463	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	-	0	27	0	G	NM_005358		76423325	1	tier1	-	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	A	A	76423325	G	A	76423325	3	1	56	1	0	0	0	0	1	0	0	0	8885	1175	41	3	4527	3	LMO7	13	76423325	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	25837185	76423325	38746553	134	13919											
FGF14	2259	genome.wustl.edu	37	chr13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtgcttttacttggcGtcaccccaggcttcgggacc	5	12	10	14	2	1	0	1	0	0	0	2	1	1	1	3	3	2	2	3	3	1	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr13:102375254G>A	ENST00000376143.4	-	5	670	c.671C>T	c.(670-672)aCg>aTg	p.T224M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.T229M	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473																																																	2	Substitution - Missense(2)	large_intestine(2)											267	201	224					13																	102375254		2203	4300	6503	SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.671C>T	13.37:g.102375254G>A	ENSP00000365313:p.Thr224Met		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.T229M	ENST00000376143.4	37	c.686	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925108	0.73213	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.79454	-1.27;-1.19	5.65	5.65	0.86999	.	0.181513	0.52532	D	0.000065	T	0.82268	0.5000	L	0.32530	0.975	0.54753	D	0.999989	D;D	0.76494	0.999;0.982	P;P	0.61397	0.888;0.684	D	0.83575	0.0114	10	0.66056	D	0.02	.	19.7432	0.96238	0.0:0.0:1.0:0.0	.	229;224	Q92915-2;Q92915	.;FGF14_HUMAN	M	229;224	ENSP00000365301:T229M;ENSP00000365313:T224M	ENSP00000365301:T229M	T	-	2	0	FGF14	101173255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.663000	0.90544	0.563000	0.77884	ACG	FGF14	-	NULL	ENSG00000102466		0.473	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0	141	0	G			102375254	-1	tier1	-	no_errors	ENST00000376131	ensembl	human	known	74_37	missense	12.31	114	16	SNP	1.000	A	A	102375254	G	A	102375254	3	1	56	1	0	0	0	0	1	0	0	0	5865	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	25951929	102375254	12794624	135	13920											
ARHGAP5	394	genome.wustl.edu	37	chr14	32563112	32563112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacttcccgggtgcctttGgcacatcctgaagatatgga	9	10	11	11	1	0	3	0	1	0	2	2	4	2	4	3	3	1	1	3	3	2	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr14:32563112G>A	ENST00000345122.3	+	2	3552	c.3237G>A	c.(3235-3237)ttG>ttA	p.L1079L	ARHGAP5_ENST00000539826.2_Silent_p.L1079L|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.L1079L|ARHGAP5_ENST00000432921.1_Silent_p.L1079L|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1079					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GGGTGCCTTTGGCACATCCTG	0.388																																					NSCLC(9;77 350 3443 29227 41353)												0													47	51	50					14																	32563112		2203	4299	6502	SO:0001819	synonymous_variant	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3237G>A	14.37:g.32563112G>A			A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.L1079	ENST00000345122.3	37	c.3237	CCDS32062.1	14																																																																																			ARHGAP5	-	NULL	ENSG00000100852		0.388	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	31	0	G	NM_001030055		32563112	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	silent	19.05	17	4	SNP	1.000	A	A	32563112	G	A	32563112	2	1	56	1	0	0	0	0	0	0	0	1	886	1339	47	3		3	ARHGAP5	14	32563112	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		32563112	74786428	136	13921											
AKAP6	9472	genome.wustl.edu	37	chr14	33014439	33014439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgtctgtttcagggcCggcttgattctctaacagaa	8	13	10	10	1	3	2	1	1	2	1	4	2	3	2	2	2	1	2	2	2	2	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr14:33014439C>T	ENST00000280979.4	+	4	750	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	AKAP6_ENST00000557272.1_Missense_Mutation_p.R194W|AKAP6_ENST00000557354.1_Missense_Mutation_p.R194W	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	194					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTTCAGGGCCGGCTTGATTC	0.393																																					Melanoma(49;821 1200 7288 13647 42351)												0													120	116	117					14																	33014439		2203	4300	6503	SO:0001583	missense	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.580C>T	14.37:g.33014439C>T	ENSP00000280979:p.Arg194Trp		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.R194W	ENST00000280979.4	37	c.580	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	19.15	3.770978	0.69992	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.38240	2.4;1.17;1.15	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	T	0.59032	0.2164	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59989	-0.7350	10	0.87932	D	0	-10.7639	15.03	0.71698	0.1421:0.8579:0.0:0.0	.	194;194	A7E242;Q13023	.;AKAP6_HUMAN	W	194	ENSP00000280979:R194W;ENSP00000450531:R194W;ENSP00000451247:R194W	ENSP00000280979:R194W	R	+	1	2	AKAP6	32084190	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.306000	0.65756	2.793000	0.96121	0.655000	0.94253	CGG	AKAP6	-	NULL	ENSG00000151320		0.393	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0	37	0	C	NM_004274		33014439	1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	T	T	33014439	C	T	33014439	3	4	56	1	0	0	0	0	1	0	0	0	455	643	23	1	590	1	AKAP6	14	33014439	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	451327	33014439	74335101	137	13922											
RPL36AL	6166	genome.wustl.edu	37	chr14	50085611	50085611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttaggctcaacacatTccagccttagcacaatcttc	11	11	6	13	0	2	0	1	0	1	0	4	0	3	0	2	1	4	4	2	1	4	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr14:50085611T>C	ENST00000298289.6	-	2	371	c.212A>G	c.(211-213)gAa>gGa	p.E71G	RP11-649E7.5_ENST00000555043.1_RNA|MGAT2_ENST00000305386.2_5'Flank	NM_001001.4	NP_000992.1	Q969Q0	RL36L_HUMAN	ribosomal protein L36a-like	71					translation (GO:0006412)	ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)					all_epithelial(31;0.0021)|Breast(41;0.0124)					CTCAACACATTCCAGCCTTAG	0.483																																																	0													115	109	111					14																	50085611		2203	4300	6503	SO:0001583	missense	0			BC000741	CCDS9689.1	14q21	2008-08-29	2002-01-15	2002-01-18	ENSG00000165502	ENSG00000165502		"L ribosomal proteins"	10346	protein-coding gene	gene with protein product		180469	"ribosomal protein L36a"	RPL36A		1577483	Standard	NM_001001		Approved		uc001wwq.2	Q969Q0	OTTHUMG00000152330	ENST00000298289.6:c.212A>G	14.37:g.50085611T>C	ENSP00000346012:p.Glu71Gly		Q3B7A5	Missense_Mutation	SNP	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd	p.E71G	ENST00000298289.6	37	c.212	CCDS9689.1	14	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018844	0.54576	.	.	ENSG00000165502	ENST00000298289	T	0.50001	0.76	4.16	4.16	0.48862	Ribosomal protein, zinc-binding domain (1);	0.000000	0.64402	U	0.000002	T	0.38321	0.1036	.	.	.	0.43275	D	0.995239	P	0.36944	0.574	B	0.33339	0.162	T	0.44605	-0.9317	9	0.72032	D	0.01	-39.753	11.9374	0.52880	0.0:0.0:0.0:1.0	.	71	Q969Q0	RL36L_HUMAN	G	71	ENSP00000346012:E71G	ENSP00000346012:E71G	E	-	2	0	RPL36AL	49155361	1.000000	0.71417	0.698000	0.30274	0.799000	0.45148	7.442000	0.80503	2.142000	0.66516	0.472000	0.43445	GAA	RPL36AL	-	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd	ENSG00000165502		0.483	RPL36AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL36AL	HGNC	protein_coding	OTTHUMT00000276808.2	-	0	82	0	T			50085611	-1	tier1	-	no_errors	ENST00000298289	ensembl	human	known	74_37	missense	14.47	65	11	SNP	1.000	C	C	50085611	T	C	50085611	3	2	56	1	0	0	0	0	1	0	0	0	13633	1783	62	4	112	4	RPL36AL	14	50085611	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	17071172	50085611	57263929	138	13923											
GNG2	54331	genome.wustl.edu	37	chr14	52417396	52417396	+	De_novo_Start_InFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagatctatccagcactccGatggccagcaacaacaccgc	14	5	7	15	2	1	1	0	0	1	1	3	2	3	1	4	1	4	2	4	1	4	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr14:52417396G>A	ENST00000335281.4	+	0	406				GNG2_ENST00000556752.1_De_novo_Start_InFrame|GNG2_ENST00000554875.1_Silent_p.P29P|GNG2_ENST00000554736.1_De_novo_Start_InFrame|GNG2_ENST00000555472.1_De_novo_Start_InFrame|GNG2_ENST00000556766.1_De_novo_Start_InFrame|GNG2_ENST00000557376.1_Silent_p.P39P|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000553432.1_Silent_p.P31P	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	CCAGCACTCCGATGGCCAGCA	0.448																																																	0													94	80	85					14																	52417396		2203	4300	6503			0			AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768			14.37:g.52417396G>A			Q5JPE2|Q6P9A9	Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.P39	ENST00000335281.4	37	c.117	CCDS32082.1	14																																																																																			GNG2	-	superfamily_G-protein_gamma-like_dom	ENSG00000186469		0.448	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GNG2	HGNC	protein_coding	OTTHUMT00000411585.1	-	0	27	0	G			52417396	1	tier1	-	no_errors	ENST00000557376	ensembl	human	putative	74_37	silent	26.32	14	5	SNP	0.897	A	A	52417396	G	A	52417396	1	1	56	1	0	1	0	0	0	0	0	0	6553	1073	37	1		1	GNG2	14	52417396	De_novo_Start_InFrame	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	2331785	52417396	54932144	139	13924											
CHRNA7	1139	genome.wustl.edu	37	chr15	32460329	32460329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggcttccgcggcctggaCggcgtgcactgtgtcccgac	4	8	14	15	6	0	0	0	0	0	0	3	2	2	1	3	4	1	2	3	4	0	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr15:32460329C>T	ENST00000306901.3	+	10	1276	c.1179C>T	c.(1177-1179)gaC>gaT	p.D393D	CHRNA7_ENST00000455693.2_Silent_p.D212D|CHRNA7_ENST00000454250.3_Silent_p.D422D	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	393					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCGGCCTGGACGGCGTGCACT	0.716																																					Esophageal Squamous(193;529 2900 40232 43193)												0													5	6	6					15																	32460329		1942	3945	5887	SO:0001819	synonymous_variant	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1179C>T	15.37:g.32460329C>T			A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D422	ENST00000306901.3	37	c.1266	CCDS10027.1	15																																																																																			CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000175344		0.716	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	-	0	72	0	C			32460329	1	tier1	-	no_errors	ENST00000454250	ensembl	human	known	74_37	silent	13.51	64	10	SNP	0.079	T	T	32460329	C	T	32460329	2	4	56	1	0	0	0	0	0	0	0	1	3395	535	19	1		1	CHRNA7	15	32460329	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		32460329	70071063	140	13925											
DIS3L	115752	genome.wustl.edu	37	chr15	66604111	66604111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctgcccacgagctttGtgattctatccttcagtctc	9	13	7	12	1	3	1	1	1	2	0	5	2	4	1	2	0	3	2	2	0	3	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr15:66604111G>T	ENST00000319212.4	+	5	658	c.608G>T	c.(607-609)tGt>tTt	p.C203F	DIS3L_ENST00000319194.5_Missense_Mutation_p.C120F|DIS3L_ENST00000441424.2_Missense_Mutation_p.C69F	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	203					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CACGAGCTTTGTGATTCTATC	0.458																																																	0													131	131	131					15																	66604111		2201	4299	6500	SO:0001583	missense	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.608G>T	15.37:g.66604111G>T	ENSP00000321711:p.Cys203Phe		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	NULL	p.C203F	ENST00000319212.4	37	c.608	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	0.116	-1.131704	0.01756	.	.	ENSG00000166938	ENST00000319194;ENST00000441424;ENST00000319212;ENST00000525109	T;T;T;T	0.40476	2.05;1.03;2.04;1.08	5.14	4.2	0.49525	.	0.306970	0.38272	N	0.001742	T	0.18759	0.0450	N	0.05124	-0.11	0.41869	D	0.990261	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.06338	-1.0832	10	0.20519	T	0.43	5.4759	6.4524	0.21910	0.0854:0.0:0.566:0.3486	.	203;203	Q8TF46;Q8TF46-3	DI3L1_HUMAN;.	F	120;69;203;69	ENSP00000321583:C120F;ENSP00000388980:C69F;ENSP00000321711:C203F;ENSP00000432125:C69F	ENSP00000321583:C120F	C	+	2	0	DIS3L	64391165	1.000000	0.71417	0.542000	0.28115	0.484000	0.33280	2.139000	0.42149	1.104000	0.41587	0.561000	0.74099	TGT	DIS3L	-	NULL	ENSG00000166938		0.458	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2		0	24	0	G	NM_133375		66604111	1			no_errors	ENST00000319212	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.993	T	T	66604111	G	T	66604111	3	4	56	1	0	0	0	0	1	0	0	0	4550	1377	48	3	626	3	DIS3L	15	66604111	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	34143782	66604111	35927281	141	13926											
C15orf39	56905	genome.wustl.edu	37	chr15	75501009	75501009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagcatcgtgtggagctgCggcccaccacgctgtcggag	7	6	16	12	4	0	0	0	0	0	0	2	3	0	3	2	4	3	3	2	4	0	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr15:75501009C>T	ENST00000360639.2	+	2	2940	c.2620C>T	c.(2620-2622)Cgg>Tgg	p.R874W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R874W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R874W|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	874						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						TGTGGAGCTGCGGCCCACCAC	0.672																																																	0													24	18	20					15																	75501009		2195	4292	6487	SO:0001583	missense	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 38~Name Same As HGNC:28782"				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2620C>T	15.37:g.75501009C>T	ENSP00000353854:p.Arg874Trp		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.R874W	ENST00000360639.2	37	c.2620	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815382	0.90790	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.46819	0.86;0.86	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70226	-0.4930	10	0.87932	D	0	-31.5333	17.5238	0.87794	0.0:1.0:0.0:0.0	.	436;874	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	W	874;874;272	ENSP00000353854:R874W;ENSP00000378438:R874W	ENSP00000353854:R874W	R	+	1	2	C15orf39	73288062	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	5.550000	0.67268	2.476000	0.83614	0.561000	0.74099	CGG	C15orf39	-	NULL	ENSG00000167173		0.672	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	-	0	50	0	C	NM_015492		75501009	1	tier1	-	no_errors	ENST00000360639	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	T	T	75501009	C	T	75501009	3	4	56	1	0	0	0	0	1	0	0	0	1798	759	27	1	2622	1	C15orf39	15	75501009	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	8896898	75501009	27030383	142	13927											
CHD2	1106	genome.wustl.edu	37	chr15	93522503	93522503	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatcctggaaaacaactcaGgaaggtccaagtaagtgcca	15	6	10	10	1	1	0	1	0	0	0	3	3	3	2	3	3	3	1	3	3	6	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr15:93522503G>T	ENST00000394196.4	+	22	3934	c.2866G>T	c.(2866-2868)Gga>Tga	p.G956*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.G956*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	956					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAACAACTCAGGAAGGTCCAA	0.448																																																	0													116	112	113					15																	93522503		2197	4298	6495	SO:0001587	stop_gained	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2866G>T	15.37:g.93522503G>T	ENSP00000377747:p.Gly956*		C6G482|Q96IP5	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G956*	ENST00000394196.4	37	c.2866	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	47	13.257712	0.99730	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	.	.	.	5.78	5.78	0.91487	.	0.000000	0.33712	U	0.004633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-25.2946	20.0983	0.97858	0.0:0.0:1.0:0.0	.	.	.	.	X	956	.	ENSP00000377747:G956X	G	+	1	0	CHD2	91323507	1.000000	0.71417	0.929000	0.37066	0.976000	0.68499	6.579000	0.74036	2.755000	0.94549	0.552000	0.68991	GGA	CHD2	-	superfamily_P-loop_NTPase	ENSG00000173575		0.448	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0	49	0	G	NM_001271		93522503	1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	nonsense	11.43	31	4	SNP	0.998	T	T	93522503	G	T	93522503	4	4	56	1	0	0	0	0	0	1	0	0	3332	1001	35	3	2952	3	CHD2	15	93522503	Nonsense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	18021494	93522503	9008889	143	13928											
DNAH3	55567	genome.wustl.edu	37	chr16	20981193	20981193	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccatgaccagtttgacaggGcctggtgggttctgcatcga	7	11	13	10	1	1	2	0	2	1	0	3	3	2	2	3	3	1	3	3	3	0	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr16:20981193G>C	ENST00000261383.3	-	52	8378	c.8379C>G	c.(8377-8379)ggC>ggG	p.G2793G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2793	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTTGACAGGGCCTGGTGGGT	0.592																																																	0													148	127	134					16																	20981193		2201	4300	6501	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8379C>G	16.37:g.20981193G>C			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.G2793	ENST00000261383.3	37	c.8379	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.592	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	93	0	G	NM_017539		20981193	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	19.35	50	12	SNP	0.606	C	C	20981193	G	C	20981193	2	2	56	1	0	0	0	0	0	0	0	1	4617	1190	42	5		5	DNAH3	16	20981193	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		20981193	69373560	144	13929											
DNAH3	55567	genome.wustl.edu	37	chr16	21038390	21038390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctcgaggtcggcgggCtcgaagatcaggctcatctt	6	10	14	11	4	3	1	2	0	1	1	6	3	3	1	0	4	1	4	0	4	1	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr16:21038390C>A	ENST00000261383.3	-	38	5498	c.5499G>T	c.(5497-5499)gaG>gaT	p.E1833D	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1833D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1833	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTCGGCGGGCTCGAAGATCA	0.572																																																	0													70	65	67					16																	21038390		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5499G>T	16.37:g.21038390C>A	ENSP00000261383:p.Glu1833Asp		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E1833D	ENST00000261383.3	37	c.5499	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263672	0.59431	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	D;D	0.96967	-4.19;-4.19	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000001	D	0.99080	0.9684	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99035	1.0822	10	0.87932	D	0	.	18.1477	0.89663	0.0:1.0:0.0:0.0	.	1833	Q8TD57	DYH3_HUMAN	D	1833	ENSP00000261383:E1833D;ENSP00000394245:E1833D	ENSP00000261383:E1833D	E	-	3	2	DNAH3	20945891	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	2.554000	0.45845	2.273000	0.75805	0.563000	0.77884	GAG	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.572	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0	26	0	C	NM_017539		21038390	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	A	A	21038390	C	A	21038390	3	1	56	1	0	0	0	0	1	0	0	0	4617	796	28	3	6950	3	DNAH3	16	21038390	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	57197	21038390	69316363	145	13930											
SRCAP	10847	genome.wustl.edu	37	chr16	30750430	30750430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcccagccagctcccCgtcttggaccgtgacagcac	6	6	10	19	3	1	1	0	1	1	0	3	2	2	2	6	2	3	2	6	2	0	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr16:30750430C>T	ENST00000262518.4	+	34	9454	c.9069C>T	c.(9067-9069)ccC>ccT	p.P3023P	SRCAP_ENST00000344771.4_Silent_p.P2865P|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Silent_p.P2961P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3023	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAGCTCCCCGTCTTGGACC	0.607																																																	0													88	78	81					16																	30750430		2197	4300	6497	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9069C>T	16.37:g.30750430C>T			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.P3023	ENST00000262518.4	37	c.9069	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.607	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0	43	0	C	NM_006662		30750430	1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	silent	18.18	27	6	SNP	0.987	T	T	30750430	C	T	30750430	2	4	56	1	0	0	0	0	0	0	0	1	15182	639	23	1		1	SRCAP	16	30750430	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	9712040	30750430	59604323	146	13931											
TMEM188	255919	genome.wustl.edu	37	chr16	50069359	50069359	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttgaaacctaggcctcAtgttcaatgacaatcttcac	13	13	5	10	0	4	2	3	2	1	0	4	2	4	2	2	1	1	1	2	1	5	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr16:50069359A>C	ENST00000427478.2	+	6	422	c.368A>C	c.(367-369)cAt>cCt	p.H123P	CNEP1R1_ENST00000458059.3_Missense_Mutation_p.H140P|CNEP1R1_ENST00000562576.1_3'UTR|CNEP1R1_ENST00000565556.1_Missense_Mutation_p.H91P	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	123					lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											CCTAGGCCTCATGTTCAATGA	0.328																																																	0													66	60	62					16																	50069359		1819	4080	5899	SO:0001583	missense	0			AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"nuclear envelope phosphatase 1-regulatory subunit 1"		"chromosome 16 open reading frame 69", "transmembrane protein 188"	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.368A>C	16.37:g.50069359A>C	ENSP00000394224:p.His123Pro		Q4G1A9|Q5H9V0|Q8NE06	Missense_Mutation	SNP	pfam_Transmembrane_protein_188	p.H140P	ENST00000427478.2	37	c.419		16	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524006	0.44866	.	.	ENSG00000205423	ENST00000458059;ENST00000427478	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	T	0.35189	0.0923	N	0.19112	0.55	0.47123	D	0.999327	B;P	0.38863	0.009;0.65	B;B	0.28849	0.042;0.095	T	0.24657	-1.0154	8	0.37606	T	0.19	-9.8777	15.591	0.76526	1.0:0.0:0.0:0.0	.	123;140	Q8N9A8;Q8N9A8-2	TM188_HUMAN;.	P	140;123	.	ENSP00000394224:H123P	H	+	2	0	TMEM188	48626860	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.422000	0.73357	2.088000	0.63022	0.383000	0.25322	CAT	CNEP1R1	-	pfam_Transmembrane_protein_188	ENSG00000205423		0.328	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	CNEP1R1	HGNC	protein_coding		-	0	42	0	A	NM_153261		50069359	1	tier1	-	no_errors	ENST00000458059	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	C	C	50069359	A	C	50069359	3	2	56	1	0	0	0	0	1	0	0	0	16157	217	8	4	445	4	TMEM188	16	50069359	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	19318929	50069359	40285394	147	13932											
CDYL2	124359	genome.wustl.edu	37	chr16	80718882	80718882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggacatgtgcaaccCattgaattcatcaataaact	13	12	6	10	0	2	1	2	1	0	0	3	2	3	2	2	1	3	1	2	1	5	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr16:80718882C>T	ENST00000570137.2	-	2	324	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.G57R|CDYL2_ENST00000562812.1_Missense_Mutation_p.G57R|CDYL2_ENST00000566173.1_Missense_Mutation_p.G57R	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	57	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.					nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATGTGCAACCCATTGAATTCA	0.542																																																	0													142	119	127					16																	80718882		2203	4300	6503	SO:0001583	missense	0			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"chromodomain Y-like protein 2"			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.169G>A	16.37:g.80718882C>T	ENSP00000476295:p.Gly57Arg		Q7Z5I8	Missense_Mutation	SNP	pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.G57R	ENST00000570137.2	37	c.169	CCDS32493.1	16	.	.	.	.	.	.	.	.	.	.	C	3.327	-0.137572	0.06711	.	.	ENSG00000166446	ENST00000299564	T	0.37235	1.21	5.08	5.08	0.68730	Chromo domain-like (1);Chromo domain/shadow (2);	0.057409	0.64402	D	0.000001	T	0.06462	0.0166	N	0.00037	-2.525	0.47778	D	0.999511	B	0.02656	0.0	B	0.11329	0.006	T	0.45396	-0.9264	10	0.02654	T	1	.	13.0045	0.58696	0.0:0.9205:0.0:0.0795	.	57	Q8N8U2	CDYL2_HUMAN	R	57	ENSP00000299564:G57R	ENSP00000299564:G57R	G	-	1	0	CDYL2	79276383	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	3.573000	0.53856	2.636000	0.89361	0.655000	0.94253	GGG	CDYL2	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000166446		0.542	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	HGNC	protein_coding	OTTHUMT00000434727.2	-	0	45	0	C	NM_152342		80718882	-1	tier1	-	no_errors	ENST00000570137	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	T	T	80718882	C	T	80718882	3	4	56	1	0	0	0	0	1	0	0	0	3193	594	21	3	1375	3	CDYL2	16	80718882	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	30649523	80718882	9635871	148	13933											
TP53	7157	genome.wustl.edu	37	chr17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacagaagatgacaggggCcaggagggggctggtgcagg	10	3	22	6	0	0	3	0	1	0	2	0	5	0	5	1	8	1	2	1	8	1	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:7579414C>T	ENST00000269305.4	-	4	462	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TP53_ENST00000420246.2_Nonsense_Mutation_p.W91*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGACAGGGGCCAGGAGGGGG	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	33	Substitution - Nonsense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(10)|upper_aerodigestive_tract(6)|breast(4)|bone(4)|central_nervous_system(2)|urinary_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)|prostate(1)|liver(1)	GRCh37	CM065495	TP53	M							44	50	48					17																	7579414		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.273G>A	17.37:g.7579414C>T	ENSP00000269305:p.Trp91*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.W91*	ENST00000269305.4	37	c.273	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552604	0.86127	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	0.425160	0.22616	N	0.057766	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-8.1711	8.8476	0.35179	0.0:0.8991:0.0:0.1009	.	.	.	.	X	91	.	ENSP00000269305:W91X	W	-	3	0	TP53	7520139	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	1.567000	0.36407	2.561000	0.86390	0.561000	0.74099	TGG	TP53	-	NULL	ENSG00000141510		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	248	0	C	NM_000546		7579414	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	37.31	125	75	SNP	1.000	T	T	7579414	C	T	7579414	4	4	56	1	0	0	0	0	0	1	0	0	16429	740	26	3	1029	3	TP53	17	7579414	Nonsense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		7579414	73615796	149	13934											
PIK3R6	146850	genome.wustl.edu	37	chr17	8722421	8722421	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaaggactttcccgccaAgttggaggacttgacaacct	12	8	11	10	1	0	2	0	1	0	1	1	6	1	5	3	3	1	1	3	3	3	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:8722421A>T	ENST00000311434.9	-	19	2211	c.1972T>A	c.(1972-1974)Ttg>Atg	p.L658M	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	659					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										TTTCCCGCCAAGTTGGAGGAC	0.557																																																	0													50	49	49					17																	8722421		1992	4168	6160	SO:0001583	missense	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1972T>A	17.37:g.8722421A>T	ENSP00000475670:p.Leu658Met		Q658R3	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.L658M	ENST00000311434.9	37	c.1972		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.557	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0	51	0	A	NM_001010855		8722421	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.990	T	T	8722421	A	T	8722421	3	4	56	1	0	0	0	0	1	0	0	0	11962	69	3	5	301	5	PIK3R6	17	8722421	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	1143007	8722421	72472789	150	13935											
DNAH9	1770	genome.wustl.edu	37	chr17	11783507	11783507	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttgggagagaagtcattAaaaaaggacggtaagactca	16	8	12	5	1	2	2	2	0	0	2	2	5	2	4	0	3	1	2	0	3	5	3	rs200261738		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:11783507A>T	ENST00000262442.4	+	54	10659	c.10591A>T	c.(10591-10593)Aaa>Taa	p.K3531*	DNAH9_ENST00000608377.1_5'Flank|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.K3531*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3531	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K3531*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAAGTCATTAAAAAAGGACG	0.507																																																	1	Substitution - Nonsense(1)	endometrium(1)											88	89	89					17																	11783507		2203	4300	6503	SO:0001587	stop_gained	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10591A>T	17.37:g.11783507A>T	ENSP00000262442:p.Lys3531*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3531*	ENST00000262442.4	37	c.10591	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	A	52	18.677273	0.99909	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	4.46	4.46	0.54185	.	0.133025	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5648	0.61810	1.0:0.0:0.0:0.0	.	.	.	.	X	3531;3531;2113	.	ENSP00000262442:K3531X	K	+	1	0	DNAH9	11724232	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.827000	0.92041	1.879000	0.54435	0.533000	0.62120	AAA	DNAH9	-	superfamily_P-loop_NTPase	ENSG00000007174		0.507	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	29	0	A	NM_001372		11783507	1	tier1	rs200261738	no_errors	ENST00000262442	ensembl	human	known	74_37	nonsense	20.00	12	3	SNP	1.000	T	T	11783507	A	T	11783507	4	4	56	1	0	0	0	0	0	1	0	0	4622	363	13	5	10805	5	DNAH9	17	11783507	Nonsense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	3061086	11783507	69411703	151	13936											
POLDIP2	26073	genome.wustl.edu	37	chr17	26678702	26678702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacataccctcatgcccatGtagaaggggatgacagtgac	12	7	10	12	0	1	3	1	2	0	1	1	4	1	4	3	2	2	1	3	2	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:26678702G>A	ENST00000540200.1	-	8	743	c.744C>T	c.(742-744)taC>taT	p.Y248Y	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	249	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCATGCCCATGTAGAAGGGGA	0.567																																																	0													47	48	48					17																	26678702		1994	4175	6169	SO:0001819	synonymous_variant	0			AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.744C>T	17.37:g.26678702G>A			B2R846|Q96JE4	Silent	SNP	pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain	p.Y248	ENST00000540200.1	37	c.744		17																																																																																			POLDIP2	-	superfamily_ApaG_domain,pfscan_ApaG_domain	ENSG00000004142		0.567	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	POLDIP2	HGNC	protein_coding			0	31	0	G	NM_015584		26678702	-1			no_errors	ENST00000540200	ensembl	human	known	74_37	silent	9.68	28	3	SNP	1.000	A	A	26678702	G	A	26678702	2	1	56	1	0	0	0	0	0	0	0	1	12233	1372	48	3		3	POLDIP2	17	26678702	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	14895195	26678702	54516508	152	13937											
ADAP2	55803	genome.wustl.edu	37	chr17	29253929	29253929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacatcccccaggccaacGactgcctgtgagtgggtgat	9	8	11	13	1	0	2	0	2	0	0	1	3	1	2	4	2	3	0	4	2	2	1	rs568016516		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:29253929G>T	ENST00000330889.3	+	3	645	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	ADAP2_ENST00000580525.1_Missense_Mutation_p.D110Y	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	104	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCAGGCCAACGACTGCCTGTG	0.542																																																	1	Unknown(1)	central_nervous_system(1)											96	76	83					17																	29253929		2203	4300	6503	SO:0001583	missense	0			AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	16487	protein-coding gene	gene with protein product		608635	"centaurin, alpha 2"	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.310G>T	17.37:g.29253929G>T	ENSP00000329468:p.Asp104Tyr		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP	p.D104Y	ENST00000330889.3	37	c.310	CCDS11261.1	17	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144890	0.37825	.	.	ENSG00000184060	ENST00000330889	T	0.48836	0.8	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.86947	0.2083	10	0.72032	D	0.01	.	14.8511	0.70297	0.0:0.0:1.0:0.0	.	110;104;104	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	Y	104	ENSP00000329468:D104Y	ENSP00000329468:D104Y	D	+	1	0	ADAP2	26278055	1.000000	0.71417	0.959000	0.39883	0.797000	0.45037	8.242000	0.89818	2.599000	0.87857	0.561000	0.74099	GAC	ADAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000184060		0.542	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAP2	HGNC	protein_coding	OTTHUMT00000256346.1	-	0	106	0	G	NM_018404		29253929	1	tier1	-	no_errors	ENST00000330889	ensembl	human	known	74_37	missense	18.33	98	22	SNP	0.998	T	T	29253929	G	T	29253929	3	4	56	1	0	0	0	0	1	0	0	0	280	1058	37	2	320	2	ADAP2	17	29253929	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	2575227	29253929	51941281	153	13938											
NMT1	4836	genome.wustl.edu	37	chr17	43171133	43171133	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctacaccctgccccagggcTtcacctgggatgctttggac	6	9	10	16	0	1	0	1	0	0	0	1	2	1	2	5	3	3	2	5	3	1	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:43171133T>G	ENST00000592782.1	+	5	597	c.466T>G	c.(466-468)Ttc>Gtc	p.F156V	NMT1_ENST00000590114.1_3'UTR|NMT1_ENST00000258960.2_Missense_Mutation_p.F156V			P30419	NMT1_HUMAN	N-myristoyltransferase 1	156					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GCCCCAGGGCTTCACCTGGGA	0.602																																																	0													74	64	68					17																	43171133		2203	4300	6503	SO:0001583	missense	0				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"alternative, short form NMT-S", "myristoyl-CoA:protein N-myristoyltransferase", "long form, NMT-L"	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.466T>G	17.37:g.43171133T>G	ENSP00000468424:p.Phe156Val		A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.F156V	ENST00000592782.1	37	c.466	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	T	32	5.110860	0.94292	.	.	ENSG00000136448	ENST00000258960	T	0.61158	0.13	5.02	5.02	0.67125	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84197	0.5419	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89937	0.4070	10	0.87932	D	0	-14.9955	15.1981	0.73112	0.0:0.0:0.0:1.0	.	156	P30419	NMT1_HUMAN	V	156	ENSP00000258960:F156V	ENSP00000258960:F156V	F	+	1	0	NMT1	40526659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	2.233000	0.73108	0.533000	0.62120	TTC	NMT1	-	pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000136448		0.602	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	-	0	77	0	T	NM_021079		43171133	1	tier1	-	no_errors	ENST00000258960	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	G	G	43171133	T	G	43171133	3	3	56	1	0	0	0	0	1	0	0	0	10542	1609	56	4	480	4	NMT1	17	43171133	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	13917204	43171133	38024077	154	13939											
PLEKHM1	9842	genome.wustl.edu	37	chr17	43522867	43522867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcagggcgccactccGgcacaggcccaggtaatccc	7	6	10	18	2	1	0	1	0	0	0	4	0	4	0	5	4	0	2	5	4	1	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:43522867G>A	ENST00000430334.3	-	9	2939	c.2806C>T	c.(2806-2808)Cgg>Tgg	p.R936W	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.R847W	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	936					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCGCCACTCCGGCACAGGCCC	0.582																																																	0													32	31	31					17																	43522867		2201	4296	6497	SO:0001583	missense	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2806C>T	17.37:g.43522867G>A	ENSP00000389913:p.Arg936Trp		Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R936W	ENST00000430334.3	37	c.2806	CCDS32671.1	17	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736873	0.69304	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.70869	-0.52;-0.51	4.47	2.25	0.28309	.	0.144593	0.46145	D	0.000303	T	0.76111	0.3942	M	0.91354	3.2	0.54753	D	0.999989	D;P	0.52996	0.957;0.937	P;B	0.44597	0.454;0.438	T	0.82047	-0.0651	10	0.87932	D	0	.	11.0153	0.47685	0.0:0.0:0.6689:0.3311	.	847;936	F8W648;Q9Y4G2	.;PKHM1_HUMAN	W	936;885;847	ENSP00000389913:R936W;ENSP00000414352:R847W	ENSP00000414352:R847W	R	-	1	2	PLEKHM1	40878650	1.000000	0.71417	0.976000	0.42696	0.898000	0.52572	4.561000	0.60809	1.203000	0.43233	0.485000	0.47835	CGG	PLEKHM1	-	NULL	ENSG00000225190		0.582	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	-	0	27	0	G	NM_014798		43522867	-1	tier1	-	no_errors	ENST00000430334	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	A	A	43522867	G	A	43522867	3	1	56	1	0	0	0	0	1	0	0	0	12119	1115	39	1	380	1	PLEKHM1	17	43522867	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	351734	43522867	37672343	155	13940											
TOB1	10140	genome.wustl.edu	37	chr17	48940888	48940888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggcatgaaggtagggCttacagcagcagagtgacca	12	5	15	9	1	0	3	0	2	0	1	0	3	0	3	2	4	3	5	2	4	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:48940888C>T	ENST00000268957.3	-	3	919	c.491G>A	c.(490-492)aGc>aAc	p.S164N	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000499247.2_Missense_Mutation_p.S164N	NM_001243877.1	NP_001230806.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	164					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060212)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of translation (GO:0017148)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of signal transduction (GO:0009967)|SMAD protein import into nucleus (GO:0007184)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor tyrosine kinase binding (GO:0030971)|SH3/SH2 adaptor activity (GO:0005070)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GAAGGTAGGGCTTACAGCAGC	0.522											OREG0024576	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(144;643 1919 24513 29423 40686)												0													97	80	86					17																	48940888		2203	4300	6503	SO:0001583	missense	0			D38305	CCDS11576.1	17q21.33	2012-08-14			ENSG00000141232	ENSG00000141232			11979	protein-coding gene	gene with protein product		605523		TROB1		8632892, 17785442	Standard	NM_005749		Approved	TOB, TROB	uc002isw.3	P50616	OTTHUMG00000162277	ENST00000268957.3:c.491G>A	17.37:g.48940888C>T	ENSP00000268957:p.Ser164Asn	958	B2R9T0|D3DTY3|Q4KMQ0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.S164N	ENST00000268957.3	37	c.491	CCDS11576.1	17	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308703	0.60305	.	.	ENSG00000141232	ENST00000499247;ENST00000268957	T;T	0.50548	0.74;0.74	5.67	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.78049	2.395	0.58432	D	0.999999	D	0.57899	0.981	D	0.65140	0.932	T	0.71586	-0.4548	10	0.56958	D	0.05	.	14.7195	0.69294	0.0:0.9307:0.0:0.0693	.	164	P50616	TOB1_HUMAN	N	164	ENSP00000427695:S164N;ENSP00000268957:S164N	ENSP00000268957:S164N	S	-	2	0	TOB1	46295887	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	1.405000	0.46838	0.655000	0.94253	AGC	TOB1	-	NULL	ENSG00000141232		0.522	TOB1-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TOB1	HGNC	protein_coding	OTTHUMT00000368364.1	-	0	48	0	C			48940888	-1	tier1	-	no_errors	ENST00000268957	ensembl	human	known	74_37	missense	21.82	43	12	SNP	1.000	T	T	48940888	C	T	48940888	3	4	56	1	0	0	0	0	1	0	0	0	16394	797	28	3	550	3	TOB1	17	48940888	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	5418021	48940888	32254322	156	13941											
MRC2	9902	genome.wustl.edu	37	chr17	60743551	60743551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcaccagcacgggccGcgaggatggtcacctgtggt	6	6	16	13	4	1	0	1	0	0	0	1	2	1	1	3	5	2	3	3	5	0	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:60743551G>A	ENST00000303375.5	+	3	1019	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	206	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGCACGGGCCGCGAGGATGGT	0.612																																																	0													54	40	45					17																	60743551		2201	4300	6501	SO:0001583	missense	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.617G>A	17.37:g.60743551G>A	ENSP00000307513:p.Arg206His		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.R206H	ENST00000303375.5	37	c.617	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.205628	0.95033	.	.	ENSG00000011028	ENST00000303375	T	0.53640	0.61	4.55	4.55	0.56014	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.061993	0.64402	N	0.000008	T	0.70753	0.3260	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75164	-0.3414	10	0.56958	D	0.05	-26.0131	17.5058	0.87745	0.0:0.0:1.0:0.0	.	206	Q9UBG0	MRC2_HUMAN	H	206	ENSP00000307513:R206H	ENSP00000307513:R206H	R	+	2	0	MRC2	58097283	1.000000	0.71417	0.995000	0.50966	0.923000	0.55619	9.657000	0.98554	2.368000	0.80403	0.561000	0.74099	CGC	MRC2	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000011028		0.612	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	-	0	30	0	G			60743551	1	tier1	-	no_errors	ENST00000303375	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.987	A	A	60743551	G	A	60743551	3	1	56	1	0	0	0	0	1	0	0	0	9796	1087	38	1	627	1	MRC2	17	60743551	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	11802663	60743551	20451659	157	13942											
DNAH17	8632	genome.wustl.edu	37	chr17	76481737	76481737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccatcagcaccgacttgcCcgtccccgcgttccccacca	6	6	6	23	4	1	0	1	0	0	0	3	1	3	0	9	0	2	2	9	0	0	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:76481737C>T	ENST00000585328.1	-	47	7487	c.7363G>A	c.(7363-7365)Ggc>Agc	p.G2455S	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.G2446S|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000588565.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2446	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCGACTTGCCCGTCCCCGCG	0.592																																																	0													79	88	85					17																	76481737		2140	4231	6371	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7363G>A	17.37:g.76481737C>T	ENSP00000465516:p.Gly2455Ser		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.G2446S	ENST00000585328.1	37	c.7336		17	.	.	.	.	.	.	.	.	.	.	C	36	5.752967	0.96890	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	D	0.92048	-2.96	4.88	4.88	0.63580	.	.	.	.	.	D	0.96166	0.8750	M	0.87038	2.855	0.58432	D	0.999999	.	.	.	.	.	.	D	0.96510	0.9378	7	0.54805	T	0.06	.	18.0175	0.89246	0.0:1.0:0.0:0.0	.	.	.	.	S	2455;2446	ENSP00000374490:G2446S	ENSP00000300671:G2455S	G	-	1	0	DNAH17	73993332	1.000000	0.71417	0.939000	0.37840	0.954000	0.61252	7.711000	0.84669	2.244000	0.73946	0.563000	0.77884	GGC	DNAH17	-	superfamily_P-loop_NTPase	ENSG00000187775		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0	50	0	C	NM_173628		76481737	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	40.00	27	18	SNP	1.000	T	T	76481737	C	T	76481737	3	4	56	1	0	0	0	0	1	0	0	0	4615	623	22	3	6150	3	DNAH17	17	76481737	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	15738186	76481737	4713473	158	13943											
RNF213	57674	genome.wustl.edu	37	chr17	78268540	78268540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcatcagtactatgacaTagtttatatgaagcctcatg	12	13	8	8	0	2	2	2	2	0	0	2	2	2	2	1	1	2	3	1	1	6	6			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:78268540T>C	ENST00000582970.1	+	9	1636	c.1493T>C	c.(1492-1494)aTa>aCa	p.I498T	RNF213_ENST00000319921.4_Missense_Mutation_p.I498T|RNF213_ENST00000456466.1_Missense_Mutation_p.I498T|RNF213_ENST00000508628.2_Missense_Mutation_p.I547T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	498					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TACTATGACATAGTTTATATG	0.507																																																	0													103	98	100					17																	78268540		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1493T>C	17.37:g.78268540T>C	ENSP00000464087:p.Ile498Thr		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I498T	ENST00000582970.1	37	c.1493	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	T	3.287	-0.145826	0.06627	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	5.04	2.71	0.32032	.	0.258114	0.27159	N	0.020649	T	0.64416	0.2596	M	0.67953	2.075	0.33367	D	0.573022	D;D	0.65815	0.991;0.995	P;D	0.63877	0.883;0.919	T	0.71909	-0.4450	9	0.87932	D	0	-12.1057	8.6159	0.33831	0.3057:0.0:0.0:0.6943	.	498;498	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	T	498;547;498;498	.	ENSP00000324392:I498T	I	+	2	0	RNF213	75883135	0.998000	0.40836	0.012000	0.15200	0.151000	0.21798	3.913000	0.56394	0.212000	0.20703	0.379000	0.24179	ATA	RNF213	-	NULL	ENSG00000173821		0.507	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	54	0	T	NM_020914		78268540	1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.412	C	C	78268540	T	C	78268540	3	2	56	1	0	0	0	0	1	0	0	0	13522	1406	49	4	1674	4	RNF213	17	78268540	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	1786803	78268540	2926670	159	13944											
AATK	9625	genome.wustl.edu	37	chr17	79108176	79108176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcctcaccttgaaccCgataccgcccttcttacagc	8	8	6	19	2	2	1	1	1	1	0	2	2	2	1	6	1	4	0	6	1	3	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:79108176C>T	ENST00000326724.4	-	2	205	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	RP11-149I9.2_ENST00000570413.1_RNA|MIR1250_ENST00000408098.1_RNA|AATK_ENST00000417379.1_5'Flank	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	61				MLACLCCKKGGIGFK -> HQVKVQGCWGRWRWQ (in Ref. 2). {ECO:0000305}.	brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCTTGAACCCGATACCGCCC	0.657																																																	0													32	35	34					17																	79108176		1567	3579	5146	SO:0001583	missense	0			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"lemur tyrosine kinase 1", "protein phosphatase 1, regulatory subunit 77"	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.181G>A	17.37:g.79108176C>T	ENSP00000324196:p.Gly61Arg		O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G61R	ENST00000326724.4	37	c.181	CCDS45807.1	17	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698903	0.68501	.	.	ENSG00000181409	ENST00000326724;ENST00000374792	T;T	0.78924	-1.22;-1.05	3.81	3.81	0.43845	.	0.274703	0.27315	N	0.019931	T	0.75191	0.3816	M	0.66939	2.045	0.80722	D	1	B	0.28605	0.217	B	0.22753	0.041	T	0.78357	-0.2235	10	0.72032	D	0.01	.	15.4861	0.75569	0.0:1.0:0.0:0.0	.	61	Q6ZMQ8	LMTK1_HUMAN	R	61	ENSP00000324196:G61R;ENSP00000363924:G61R	ENSP00000324196:G61R	G	-	1	0	AATK	76722771	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	5.436000	0.66538	1.961000	0.56991	0.460000	0.39030	GGG	AATK	-	NULL	ENSG00000181409		0.657	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	-	0	103	0	C	NM_004920		79108176	-1	tier1	-	no_errors	ENST00000326724	ensembl	human	known	74_37	missense	7.23	77	6	SNP	1.000	T	T	79108176	C	T	79108176	3	4	56	1	0	0	0	0	1	0	0	0	26	652	23	1	3995	1	AATK	17	79108176	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	839636	79108176	2087034	160	13945											
CCDC137	339230	genome.wustl.edu	37	chr17	79639171	79639171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaggccccagaggagcGtaagcaaggaccaggtaagt	12	4	14	11	1	0	1	0	0	0	1	0	3	0	3	4	4	3	3	4	4	3	2	rs201656915		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:79639171G>A	ENST00000329214.8	+	5	1049	c.646G>A	c.(646-648)Gta>Ata	p.V216I		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	216							poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCAGAGGAGCGTAAGCAAGGA	0.602																																																	0								G	ILE/VAL	3,4039		0,3,2018	42	47	45		646	-9.9	0	17		45	0,8370		0,0,4185	yes	missense	CCDC137	NM_199287.2	29	0,3,6203	AA,AG,GG		0.0,0.0742,0.0242	benign	216/290	79639171	3,12409	2021	4185	6206	SO:0001583	missense	0			BC009369	CCDS42400.1	17q25.3	2008-07-04				ENSG00000185298			33451	protein-coding gene	gene with protein product		614271					Standard	NM_199287		Approved	MGC16597	uc002kbc.4	Q6PK04		ENST00000329214.8:c.646G>A	17.37:g.79639171G>A	ENSP00000329360:p.Val216Ile			Missense_Mutation	SNP	NULL	p.V216I	ENST00000329214.8	37	c.646	CCDS42400.1	17	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165909	0.21538	7.42E-4	0.0	ENSG00000185298	ENST00000329214	D	0.90004	-2.6	4.96	-9.92	0.00455	.	2.050500	0.01858	N	0.036388	T	0.76004	0.3927	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.64651	-0.6357	10	0.33141	T	0.24	1.8715	6.4053	0.21660	0.3251:0.0981:0.4808:0.0961	.	216	Q6PK04	CC137_HUMAN	I	216	ENSP00000329360:V216I	ENSP00000329360:V216I	V	+	1	0	CCDC137	77249576	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.825000	0.04433	-2.501000	0.00510	-0.290000	0.09829	GTA	CCDC137	-	NULL	ENSG00000185298		0.602	CCDC137-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC137	HGNC	protein_coding	OTTHUMT00000440387.1	-	0	57	0	G			79639171	1	tier1	rs201656915	no_errors	ENST00000329214	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.000	A	A	79639171	G	A	79639171	3	1	56	1	0	0	0	0	1	0	0	0	2778	1145	40	1	664	1	CCDC137	17	79639171	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	530995	79639171	1556039	161	13946											
FASN	2194	genome.wustl.edu	37	chr17	80046282	80046282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgatgttgtagatggcGgctgagggggaacctgaacc	9	8	15	9	2	1	3	1	2	0	1	1	5	1	4	3	4	2	3	3	4	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr17:80046282G>A	ENST00000306749.2	-	16	2795	c.2577C>T	c.(2575-2577)gcC>gcT	p.A859A		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	859					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGTAGATGGCGGCTGAGGGGG	0.677																																					Colon(59;314 1043 11189 28578 32273)												0													27	36	33					17																	80046282		2198	4288	6486	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2577C>T	17.37:g.80046282G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.A859	ENST00000306749.2	37	c.2577	CCDS11801.1	17																																																																																			FASN	-	smart_PKS_dehydratase	ENSG00000169710		0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	70	0	G	NM_004104		80046282	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	57.14	15	20	SNP	0.973	A	A	80046282	G	A	80046282	2	1	56	1	0	0	0	0	0	0	0	1	5705	1103	39	1		1	FASN	17	80046282	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	407111	80046282	1148928	162	13947											
MYOM1	8736	genome.wustl.edu	37	chr18	3187493	3187493	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccacgtgacacgaggtTctggccagcctgctatggag	9	8	12	12	2	1	1	0	1	1	0	1	3	1	2	3	3	3	2	3	3	2	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr18:3187493T>G	ENST00000356443.4	-	5	1247	c.914A>C	c.(913-915)gAa>gCa	p.E305A	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.E305A|MYOM1_ENST00000261606.7_Missense_Mutation_p.E305A	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	305	Ig-like C2-type 1.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACACGAGGTTCTGGCCAGCC	0.438																																																	0													157	148	151					18																	3187493		1981	4150	6131	SO:0001583	missense	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.914A>C	18.37:g.3187493T>G	ENSP00000348821:p.Glu305Ala		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E305A	ENST00000356443.4	37	c.914	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878060	0.33162	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.68181	-0.31;-0.31;-0.31	5.4	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.236177	0.43579	N	0.000549	T	0.53110	0.1776	L	0.37507	1.11	0.35648	D	0.811551	B;B	0.14012	0.009;0.003	B;B	0.16289	0.013;0.015	T	0.53229	-0.8468	10	0.11794	T	0.64	.	12.5403	0.56165	0.0:0.0:0.2612:0.7388	.	305;305	P52179-2;P52179	.;MYOM1_HUMAN	A	305	ENSP00000348821:E305A;ENSP00000383413:E305A;ENSP00000261606:E305A	ENSP00000261606:E305A	E	-	2	0	MYOM1	3177493	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.118000	0.41949	0.961000	0.38030	0.455000	0.32223	GAA	MYOM1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101605		0.438	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2		0	105	0	T	NM_003803		3187493	-1			no_errors	ENST00000356443	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	G	G	3187493	T	G	3187493	3	3	56	1	0	0	0	0	1	0	0	0	10129	1783	62	4	4279	4	MYOM1	18	3187493	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09		3187493	74889755	163	13948											
SMAD4	4089	genome.wustl.edu	37	chr18	48573437	48573437	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacaatatgtctattacGaatacaccaacaagtaatga	18	10	6	7	1	1	1	0	1	1	0	1	3	1	2	1	1	3	1	1	1	9	5	rs142292491		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr18:48573437G>T	ENST00000342988.3	+	2	559	c.21G>T	c.(19-21)acG>acT	p.T7T	SMAD4_ENST00000398417.2_Silent_p.T7T|SMAD4_ENST00000588745.1_Silent_p.T7T|RP11-729L2.2_ENST00000590722.2_3'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_Silent_p.T7T	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	7					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTCTATTACGAATACACCAA	0.348																																																	41	Whole gene deletion(36)|Unknown(5)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)											100	90	94					18																	48573437		2203	4300	6503	SO:0001819	synonymous_variant	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.21G>T	18.37:g.48573437G>T			A8K405	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.T7	ENST00000342988.3	37	c.21	CCDS11950.1	18																																																																																			SMAD4	-	NULL	ENSG00000141646		0.348	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0	56	0	G	NM_005359		48573437	1			no_errors	ENST00000342988	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.665	T	T	48573437	G	T	48573437	2	4	56	1	0	0	0	0	0	0	0	1	14805	1045	37	2		2	SMAD4	18	48573437	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	45385944	48573437	29503811	164	13949											
CDH7	1005	genome.wustl.edu	37	chr18	63481784	63481784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatatggcaacagtgccaGagtggtctacagtattctgc	11	11	10	9	0	2	1	0	0	2	1	2	1	2	1	1	2	5	2	1	2	5	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr18:63481784G>T	ENST00000397968.2	+	4	995	c.569G>T	c.(568-570)aGa>aTa	p.R190I	CDH7_ENST00000536984.2_Missense_Mutation_p.R190I|CDH7_ENST00000323011.3_Missense_Mutation_p.R190I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	190	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AACAGTGCCAGAGTGGTCTAC	0.428																																																	0													176	156	163					18																	63481784		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.569G>T	18.37:g.63481784G>T	ENSP00000381058:p.Arg190Ile		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R190I	ENST00000397968.2	37	c.569	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.382252	0.95967	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.54675	0.56;0.56;0.56	5.75	5.75	0.90469	Cadherin (4);Cadherin-like (1);	0.072732	0.52532	D	0.000064	T	0.67906	0.2943	L	0.45051	1.395	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.73708	0.981;0.972	T	0.68872	-0.5294	10	0.87932	D	0	.	19.9478	0.97189	0.0:0.0:1.0:0.0	.	190;190	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	190	ENSP00000319166:R190I;ENSP00000443030:R190I;ENSP00000381058:R190I	ENSP00000319166:R190I	R	+	2	0	CDH7	61632764	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.235000	0.72332	2.712000	0.92718	0.591000	0.81541	AGA	CDH7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081138		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2		0	72	0	G	NM_033646		63481784	1			no_errors	ENST00000323011	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	63481784	G	T	63481784	3	4	56	1	0	0	0	0	1	0	0	0	3122	942	33	3	579	3	CDH7	18	63481784	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	14908347	63481784	14595464	165	13950											
HMHA1	23526	genome.wustl.edu	37	chr19	1068535	1068535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagcctgagccgccaCgccagcgcggctggcttccc	5	4	11	21	4	0	1	0	1	0	0	1	1	1	1	7	2	3	2	7	2	0	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:1068535C>T	ENST00000313093.2	+	2	444	c.213C>T	c.(211-213)caC>caT	p.H71H	HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000543365.1_5'Flank|HMHA1_ENST00000586866.1_Silent_p.H75H|HMHA1_ENST00000592335.1_5'Flank|HMHA1_ENST00000539243.2_Silent_p.H87H|HMHA1_ENST00000590214.1_Silent_p.H98H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	71					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCCGCCACGCCAGCGCGG	0.746																																																	0													6	8	7					19																	1068535		1815	3680	5495	SO:0001819	synonymous_variant	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.213C>T	19.37:g.1068535C>T			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.H71	ENST00000313093.2	37	c.213	CCDS32863.1	19																																																																																			HMHA1	-	NULL	ENSG00000180448		0.746	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1		0	17	0	C			1068535	1			no_errors	ENST00000313093	ensembl	human	known	74_37	silent	27.59	21	8	SNP	1.000	T	T	1068535	C	T	1068535	2	4	56	1	0	0	0	0	0	0	0	1	7267	535	19	1		1	HMHA1	19	1068535	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		1068535	58060448	166	13951											
C19orf28	126321	genome.wustl.edu	37	chr19	3546079	3546079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcggcactcacgggcaagGgtgcaggctctggatggcca	8	5	16	12	2	2	0	1	0	1	0	2	1	2	1	1	6	2	4	1	6	1	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:3546079G>T	ENST00000355415.2	-	8	1451	c.1282C>A	c.(1282-1284)Cct>Act	p.P428T	AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000389395.3_Missense_Mutation_p.P428T|MFSD12_ENST00000398558.4_Missense_Mutation_p.P428T|MFSD12_ENST00000591878.1_5'Flank	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	428					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CACGGGCAAGGGTGCAGGCTC	0.557											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	88	85					19																	3546079		2076	4204	6280	SO:0001583	missense	0			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1282C>A	19.37:g.3546079G>T	ENSP00000347583:p.Pro428Thr	612	A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.P428T	ENST00000355415.2	37	c.1282	CCDS42465.1	19	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391683	0.83011	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.20598	2.1;2.06;2.37	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	M	0.84585	2.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;0.995;1.0	T	0.51260	-0.8728	10	0.15952	T	0.53	-39.0286	16.8209	0.85745	0.0:0.0:1.0:0.0	.	428;419;428	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	T	428	ENSP00000374046:P428T;ENSP00000381566:P428T;ENSP00000347583:P428T	ENSP00000347583:P428T	P	-	1	0	C19orf28	3497079	1.000000	0.71417	0.986000	0.45419	0.807000	0.45602	8.949000	0.93012	2.201000	0.70794	0.561000	0.74099	CCT	MFSD12	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000161091		0.557	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	-	0	35	0	G	NM_174983		3546079	-1	tier1	-	no_errors	ENST00000398558	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	3546079	G	T	3546079	3	4	56	1	0	0	0	0	1	0	0	0	1924	1232	43	3	379	3	C19orf28	19	3546079	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	2477544	3546079	55582904	167	13952											
LRG1	116844	genome.wustl.edu	37	chr19	4538426	4538426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaggtcaagggtgcgCaggagggtgaagttggccag	9	6	17	9	1	1	1	1	1	0	0	2	2	2	2	3	5	1	2	3	5	3	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:4538426C>T	ENST00000306390.6	-	2	1030	c.570G>A	c.(568-570)ctG>ctA	p.L190L	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	190					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGGTGCGCAGGAGGGTGA	0.602																																																	0													117	130	126					19																	4538426		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.570G>A	19.37:g.4538426C>T			Q8N4F5|Q96QZ4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L190	ENST00000306390.6	37	c.570	CCDS12130.1	19																																																																																			LRG1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.602	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	-	0	46	0	C	NM_052972		4538426	-1	tier1	-	no_errors	ENST00000306390	ensembl	human	known	74_37	silent	42.22	26	19	SNP	1.000	T	T	4538426	C	T	4538426	2	4	56	1	0	0	0	0	0	0	0	1	8977	697	25	3		3	LRG1	19	4538426	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	992347	4538426	54590557	168	13953											
INSR	3643	genome.wustl.edu	37	chr19	7152815	7152815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagctccttcaggatcTgagagtctgtctttggacag	7	12	10	12	0	4	1	1	1	3	1	6	4	6	3	3	2	1	1	3	2	0	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:7152815T>C	ENST00000302850.5	-	10	2295	c.2153A>G	c.(2152-2154)cAg>cGg	p.Q718R	INSR_ENST00000341500.5_Missense_Mutation_p.Q718R	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	718	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CTTCAGGATCTGAGAGTCTGT	0.537																																																	0													157	136	143					19																	7152815		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2153A>G	19.37:g.7152815T>C	ENSP00000303830:p.Gln718Arg		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.Q718R	ENST00000302850.5	37	c.2153	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	T	15.70	2.909617	0.52439	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.70631	-0.5;-0.5	5.57	5.57	0.84162	Fibronectin, type III (2);	0.000000	0.43919	D	0.000515	T	0.66366	0.2782	L	0.55990	1.75	0.58432	D	0.999998	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.001	T	0.62567	-0.6827	10	0.39692	T	0.17	.	13.6848	0.62508	0.0:0.0:0.0:1.0	.	709;718;718	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	R	718	ENSP00000303830:Q718R;ENSP00000342838:Q718R	ENSP00000303830:Q718R	Q	-	2	0	INSR	7103815	1.000000	0.71417	0.997000	0.53966	0.779000	0.44077	7.479000	0.81095	2.124000	0.65301	0.491000	0.48974	CAG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000171105		0.537	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	-	0	45	0	T			7152815	-1	tier1	-	no_errors	ENST00000302850	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	C	C	7152815	T	C	7152815	3	2	56	1	0	0	0	0	1	0	0	0	7800	1580	55	4	2047	4	INSR	19	7152815	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	2614389	7152815	51976168	169	13954											
MUC16	94025	genome.wustl.edu	37	chr19	9063745	9063745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgttcatggttatttctgCtgattctgtcatgacagggg	6	16	13	6	0	4	2	2	2	2	0	4	2	4	2	0	4	1	3	0	4	1	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:9063745C>T	ENST00000397910.4	-	3	23904	c.23701G>A	c.(23701-23703)Gca>Aca	p.A7901T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7903	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTATTTCTGCTGATTCTGTC	0.493																																																	0													223	203	210					19																	9063745		2020	4182	6202	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23701G>A	19.37:g.9063745C>T	ENSP00000381008:p.Ala7901Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A7901T	ENST00000397910.4	37	c.23701	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	5.430	0.264395	0.10294	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.05	-0.384	0.12474	.	.	.	.	.	T	0.02649	0.0080	L	0.34521	1.04	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.27157	-1.0082	8	0.87932	D	0	.	6.3812	0.21536	0.0:0.6765:0.0:0.3235	.	7901	B5ME49	.	T	7901	ENSP00000381008:A7901T	ENSP00000381008:A7901T	A	-	1	0	MUC16	8924745	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.420000	0.07062	-0.285000	0.09089	-1.137000	0.01932	GCA	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	82	0	C	NM_024690		9063745	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T	T	9063745	C	T	9063745	3	4	56	1	0	0	0	0	1	0	0	0	10011	797	28	3	20150	3	MUC16	19	9063745	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	1910930	9063745	50065238	170	13955											
OR10H2	26538	genome.wustl.edu	37	chr19	15839475	15839475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtatgtatcatggcaCtgctgggctgttttctcctc	4	16	11	10	0	2	0	1	0	1	0	4	0	2	0	1	3	1	7	1	3	2	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:15839475C>A	ENST00000305899.3	+	1	642	c.622C>A	c.(622-624)Ctg>Atg	p.L208M		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TATCATGGCACTGCTGGGCTG	0.522																																																	0													246	194	212					19																	15839475		2203	4300	6503	SO:0001583	missense	0			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.622C>A	19.37:g.15839475C>A	ENSP00000306095:p.Leu208Met		Q6IFQ1|Q96R58	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L208M	ENST00000305899.3	37	c.622	CCDS12333.1	19	.	.	.	.	.	.	.	.	.	.	.	10.30	1.311187	0.23821	.	.	ENSG00000171942	ENST00000305899	T	0.38722	1.12	3.39	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39083	N	0.001463	T	0.55657	0.1934	M	0.63428	1.95	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.41556	-0.9502	10	0.66056	D	0.02	.	6.6844	0.23136	0.0:0.8627:0.0:0.1373	.	208	O60403	O10H2_HUMAN	M	208	ENSP00000306095:L208M	ENSP00000306095:L208M	L	+	1	2	OR10H2	15700475	0.052000	0.20516	0.847000	0.33407	0.316000	0.28119	0.710000	0.25748	1.441000	0.47550	0.531000	0.56144	CTG	OR10H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171942		0.522	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	-	0	142	0	C			15839475	1	tier1	-	no_errors	ENST00000305899	ensembl	human	known	74_37	missense	11.19	119	15	SNP	0.291	A	A	15839475	C	A	15839475	3	1	56	1	0	0	0	0	1	0	0	0	10945	564	20	3	624	3	OR10H2	19	15839475	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	6775730	15839475	43289508	171	13956											
ZNF208	7757	genome.wustl.edu	37	chr19	22155173	22155173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctctccagtatgaatt	9	17	6	9	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	3	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:22155173G>T	ENST00000397126.4	-	4	2811	c.2663C>A	c.(2662-2664)cCc>cAc	p.P888H	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	888					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGGTTTCTCTCC	0.378																																																	0													43	46	45					19																	22155173		2073	4224	6297	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2663C>A	19.37:g.22155173G>T	ENSP00000380315:p.Pro888His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P888H	ENST00000397126.4	37	c.2663	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833017	0.32421	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.29397	1.57	2.58	2.58	0.30949	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.51261	0.1664	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.73380	0.98	T	0.31024	-0.9958	8	0.72032	D	0.01	.	10.0864	0.42421	0.0:0.0:1.0:0.0	.	788	O43345	ZN208_HUMAN	H	888;788	ENSP00000380315:P888H	ENSP00000380315:P888H	P	-	2	0	ZNF208	21947013	0.149000	0.22717	0.004000	0.12327	0.059000	0.15707	1.147000	0.31602	1.024000	0.39682	0.289000	0.19496	CCC	ZNF208	-	pfscan_Znf_C2H2	ENSG00000160321		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	33	0	G	NM_007153		22155173	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	18.52	22	5	SNP	0.084	T	T	22155173	G	T	22155173	3	4	56	1	0	0	0	0	1	0	0	0	17814	1232	43	3	1183	3	ZNF208	19	22155173	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	6315698	22155173	36973810	172	13957											
ZNF257	113835	genome.wustl.edu	37	chr19	22270892	22270892	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatgagaatttacaattaAgaaagggctgtaaaagtgtg	18	10	10	3	0	0	2	0	1	0	2	0	3	0	2	0	1	2	2	0	1	8	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:22270892A>C	ENST00000594947.1	+	4	484	c.340A>C	c.(340-342)Aga>Cga	p.R114R	ZNF257_ENST00000600162.1_3'UTR	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTACAATTAAGAAAGGGCTG	0.358																																																	0													76	82	80					19																	22270892		2162	4273	6435	SO:0001819	synonymous_variant	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.340A>C	19.37:g.22270892A>C			B3KPS4|E9PG34|Q8NE34	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R114	ENST00000594947.1	37	c.340	CCDS46030.1	19																																																																																			ZNF257	-	NULL	ENSG00000197134		0.358	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	77	0	A			22270892	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	silent	17.78	37	8	SNP	0.005	C	C	22270892	A	C	22270892	2	2	56	1	0	0	0	0	0	0	0	1	17848	64	3	4		4	ZNF257	19	22270892	Silent	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	115719	22270892	36858091	173	13958											
ZNF536	9745	genome.wustl.edu	37	chr19	30935178	30935178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcaggccccgctggccGcctgcaccctggccctgcag	4	4	12	21	2	0	0	0	0	0	0	0	0	0	0	7	3	3	4	7	3	0	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:30935178G>A	ENST00000355537.3	+	2	856	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	237					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCGCTGGCCGCCTGCACCCT	0.751																																																	0													3	4	4					19																	30935178		1711	3483	5194	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.709G>A	19.37:g.30935178G>A	ENSP00000347730:p.Ala237Thr		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A237T	ENST00000355537.3	37	c.709	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	G	4.708	0.131616	0.08981	.	.	ENSG00000198597	ENST00000355537	T	0.09255	3.0	5.7	-4.97	0.03029	.	1.068630	0.07065	N	0.834423	T	0.05547	0.0146	N	0.12182	0.205	0.24971	N	0.991663	B;B	0.14805	0.002;0.011	B;B	0.06405	0.001;0.002	T	0.44097	-0.9350	10	0.27082	T	0.32	-1.8624	10.0056	0.41955	0.7348:0.1213:0.1439:0.0	.	237;237	A7E228;O15090	.;ZN536_HUMAN	T	237	ENSP00000347730:A237T	ENSP00000347730:A237T	A	+	1	0	ZNF536	35627018	0.082000	0.21442	0.933000	0.37362	0.935000	0.57460	0.295000	0.19065	-0.696000	0.05098	0.491000	0.48974	GCC	ZNF536	-	NULL	ENSG00000198597		0.751	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	8	0	G	NM_014717		30935178	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.932	A	A	30935178	G	A	30935178	3	1	56	1	0	0	0	0	1	0	0	0	18022	1087	38	1	711	1	ZNF536	19	30935178	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	8664286	30935178	28193805	174	13959											
ZNF382	84911	genome.wustl.edu	37	chr19	37118379	37118379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatgtaaacagtgtgggaAgttcttcagttgtaagtcaa	13	13	11	4	0	3	1	2	1	1	0	3	2	3	2	0	1	1	4	0	1	6	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:37118379A>G	ENST00000292928.2	+	5	1693	c.1580A>G	c.(1579-1581)aAg>aGg	p.K527R	ZNF382_ENST00000435416.1_Missense_Mutation_p.K526R|ZNF382_ENST00000439428.1_Missense_Mutation_p.K526R|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Missense_Mutation_p.K478R	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	527	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CAGTGTGGGAAGTTCTTCAGT	0.398																																																	0													81	81	81					19																	37118379		2203	4300	6503	SO:0001583	missense	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"Zinc fingers, C2H2-type", "-"	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1580A>G	19.37:g.37118379A>G	ENSP00000292928:p.Lys527Arg		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K527R	ENST00000292928.2	37	c.1580	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965056	0.74131	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000364	T	0.47154	0.1430	M	0.73319	2.225	0.36003	D	0.83753	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.71870	0.958;0.958;0.975	T	0.60566	-0.7238	10	0.72032	D	0.01	.	11.63	0.51168	1.0:0.0:0.0:0.0	.	526;526;527	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	R	478;527;526;526	ENSP00000389722:K478R;ENSP00000292928:K527R;ENSP00000407593:K526R;ENSP00000410113:K526R	ENSP00000292928:K527R	K	+	2	0	ZNF382	41810219	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	5.507000	0.66999	1.917000	0.55516	0.482000	0.46254	AAG	ZNF382	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000161298		0.398	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	-	0	49	0	A	NM_032825		37118379	1	tier1	-	no_errors	ENST00000292928	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.998	G	G	37118379	A	G	37118379	3	3	56	1	0	0	0	0	1	0	0	0	17921	72	3	4	1590	4	ZNF382	19	37118379	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	6183201	37118379	22010604	175	13960											
SPTBN4	57731	genome.wustl.edu	37	chr19	41025471	41025471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggcgccctgcagtggCgtcttagcggcctagaggcc	4	6	16	15	5	1	1	0	0	1	1	1	1	1	1	4	5	2	1	4	5	2	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:41025471C>T	ENST00000352632.3	+	16	3153	c.3067C>T	c.(3067-3069)Cgt>Tgt	p.R1023C	SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1023C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1023C|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1023C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1023C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1023					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ccTGCAGTGGCGTCTTAGCGG	0.746																																																	0													5	7	7					19																	41025471		2108	4113	6221	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3067C>T	19.37:g.41025471C>T	ENSP00000263373:p.Arg1023Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1023C	ENST00000352632.3	37	c.3067	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027698	0.75390	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.79033	-1.2;-1.18;-1.23	4.52	3.47	0.39725	.	0.292881	0.26796	N	0.022454	T	0.77267	0.4105	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.67231	0.899;0.95	T	0.79063	-0.1957	10	0.87932	D	0	.	10.8777	0.46921	0.3416:0.6584:0.0:0.0	.	1023;1023	Q9H254;Q71S06	SPTN4_HUMAN;.	C	1023	ENSP00000263373:R1023C;ENSP00000340345:R1023C;ENSP00000340741:R1023C	ENSP00000340345:R1023C	R	+	1	0	SPTBN4	45717311	0.002000	0.14202	0.997000	0.53966	0.990000	0.78478	0.118000	0.15605	1.107000	0.41642	0.462000	0.41574	CGT	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000160460		0.746	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0	34	0	C			41025471	1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.991	T	T	41025471	C	T	41025471	3	4	56	1	0	0	0	0	1	0	0	0	15168	768	27	1	3125	1	SPTBN4	19	41025471	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	3907092	41025471	18103512	176	13961											
PSG8	440533	genome.wustl.edu	37	chr19	43262165	43262165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactcacggaggagattcAgggtgaatgggtcactgcgg	11	8	15	7	2	3	2	3	1	0	1	3	4	3	3	0	5	2	0	0	5	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:43262165A>C	ENST00000306511.4	-	3	795	c.698T>G	c.(697-699)cTg>cGg	p.L233R	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000404209.4_Missense_Mutation_p.L233R|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.L111R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	233	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.L233R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GAGGAGATTCAGGGTGAATGG	0.532																																																	1	Substitution - Missense(1)	lung(1)											198	208	205					19																	43262165		2203	4299	6502	SO:0001583	missense	0			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.698T>G	19.37:g.43262165A>C	ENSP00000305005:p.Leu233Arg		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L233R	ENST00000306511.4	37	c.698	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	a	11.74	1.728382	0.30593	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.15718	2.4;2.4;2.4	1.53	1.53	0.23141	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47040	0.1424	H	0.94385	3.53	0.09310	N	1	B;D;D;D	0.89917	0.036;1.0;1.0;1.0	B;D;D;D	0.97110	0.029;1.0;1.0;1.0	T	0.24154	-1.0168	9	0.87932	D	0	.	5.1071	0.14790	1.0:0.0:0.0:0.0	.	111;233;233;233	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	R	233;108;111;45;233	ENSP00000385869:L233R;ENSP00000385081:L111R;ENSP00000305005:L233R	ENSP00000292109:L108R	L	-	2	0	PSG8	47954005	0.011000	0.17503	0.026000	0.17262	0.059000	0.15707	1.050000	0.30404	0.697000	0.31718	0.248000	0.18094	CTG	PSG8	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000124467		0.532	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	-	0	309	0	A			43262165	-1	tier1	-	no_errors	ENST00000306511	ensembl	human	known	74_37	missense	23.37	200	61	SNP	0.197	C	C	43262165	A	C	43262165	3	2	56	1	0	0	0	0	1	0	0	0	12703	188	7	4	615	4	PSG8	19	43262165	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	2236694	43262165	15866818	177	13962											
TEX101	83639	genome.wustl.edu	37	chr19	43920564	43920564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgaagggctgcatccCggaaggggaggaggccataa	11	3	17	10	2	0	0	0	0	0	0	1	4	1	3	3	7	1	2	3	7	3	1	rs148052365		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:43920564C>T	ENST00000598265.1	+	4	414	c.248C>T	c.(247-249)cCg>cTg	p.P83L	TEX101_ENST00000253435.7_Missense_Mutation_p.P101L|TEX101_ENST00000602198.1_Missense_Mutation_p.P101L|TEX101_ENST00000601707.1_3'UTR	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	83						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				GGCTGCATCCCGGAAGGGGAG	0.542																																																	0								C	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	129	121	124		248,302	-8	0	19	dbSNP_134	124	0,8600		0,0,4300	yes	missense,missense	TEX101	NM_001130011.1,NM_031451.4	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	83/250,101/268	43920564	1,13005	2203	4300	6503	SO:0001583	missense	0			AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.248C>T	19.37:g.43920564C>T	ENSP00000472769:p.Pro83Leu		Q7L5R2|Q9BPY7	Missense_Mutation	SNP	pfam_LY6_UPAR	p.P101L	ENST00000598265.1	37	c.302	CCDS59393.1	19	.	.	.	.	.	.	.	.	.	.	C	6.149	0.395674	0.11638	2.27E-4	0.0	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.68331	-0.32	4.0	-7.97	0.01139	.	2.403860	0.01391	N	0.013242	T	0.33614	0.0869	N	0.04018	-0.295	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.21075	-1.0256	10	0.19590	T	0.45	4.385	0.5324	0.00631	0.3609:0.1902:0.1186:0.3303	.	83;101	Q9BY14;Q9BY14-2	TX101_HUMAN;.	L	101;96	ENSP00000253435:P101L	ENSP00000253435:P101L	P	+	2	0	TEX101	48612404	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.518000	0.06267	-1.445000	0.01948	-0.254000	0.11334	CCG	TEX101	-	NULL	ENSG00000131126		0.542	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	TEX101	HGNC	protein_coding	OTTHUMT00000463176.1	-	0	62	0	C	NM_031451		43920564	1	tier1	rs148052365	no_errors	ENST00000253435	ensembl	human	known	74_37	missense	41.18	30	21	SNP	0.000	T	T	43920564	C	T	43920564	3	4	56	1	0	0	0	0	1	0	0	0	15820	652	23	1	316	1	TEX101	19	43920564	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	658399	43920564	15208419	178	13963											
C19orf61	56006	genome.wustl.edu	37	chr19	44251857	44251857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggctgtgtgggtctctGcccctccttctcccccttgg	2	12	10	17	0	2	0	0	0	2	0	5	0	3	0	5	3	1	1	5	3	0	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:44251857G>A	ENST00000270066.6	-	4	760	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	SMG9_ENST00000601170.1_Nonsense_Mutation_p.Q140*	NM_019108.2	NP_061981.2	Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	140					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|intracellular (GO:0005622)	identical protein binding (GO:0042802)			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GTGGGTCTCTGCCCCTCCTTC	0.687																																																	0													23	26	25					19																	44251857		2203	4298	6501	SO:0001587	stop_gained	0			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771			25763	protein-coding gene	gene with protein product		613176	"chromosome 19 open reading frame 61", "smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C19orf61		11230166, 19417104	Standard	NM_019108		Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000270066.6:c.418C>T	19.37:g.44251857G>A	ENSP00000270066:p.Gln140*		O60429|Q9H9A9	Nonsense_Mutation	SNP	pfam_Smg8/Smg9,superfamily_P-loop_NTPase	p.Q140*	ENST00000270066.6	37	c.418	CCDS33043.2	19	.	.	.	.	.	.	.	.	.	.	G	40	8.519503	0.98845	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.3	5.3	0.74995	.	0.065652	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-0.108	16.4556	0.84011	0.0:0.0:1.0:0.0	.	.	.	.	X	140	.	ENSP00000270066:Q140X	Q	-	1	0	SMG9	48943697	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	8.469000	0.90395	2.499000	0.84300	0.655000	0.94253	CAG	SMG9	-	NULL	ENSG00000105771		0.687	SMG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG9	HGNC	protein_coding	OTTHUMT00000317668.1	-	0	54	0	G	NM_019108		44251857	-1	tier1	-	no_errors	ENST00000270066	ensembl	human	known	74_37	nonsense	13.89	31	5	SNP	1.000	A	A	44251857	G	A	44251857	4	1	56	1	0	0	0	0	0	1	0	0	1950	1328	46	3	1188	3	C19orf61	19	44251857	Nonsense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	331293	44251857	14877126	179	13964											
PEG3	5178	genome.wustl.edu	37	chr19	57325572	57325572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttggctcagcagcctccActtctggctcagcagcctcc	5	10	9	17	1	3	0	2	0	1	0	5	0	5	0	4	2	4	5	4	2	0	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr19:57325572A>G	ENST00000326441.9	-	10	4601	c.4238T>C	c.(4237-4239)gTg>gCg	p.V1413A	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.V1413A|PEG3_ENST00000593695.1_Missense_Mutation_p.V1287A|PEG3_ENST00000598410.1_Missense_Mutation_p.V1289A|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1413	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCAGCCTCCACTTCTGGCTC	0.592																																																	0													45	47	46					19																	57325572		2203	4297	6500	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4238T>C	19.37:g.57325572A>G	ENSP00000326581:p.Val1413Ala		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.V1413A	ENST00000326441.9	37	c.4238	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	A	13.22	2.173290	0.38413	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02552	4.25;4.25	4.04	4.04	0.47022	.	0.174287	0.27792	N	0.017822	T	0.02571	0.0078	L	0.27053	0.805	.	.	.	P;P;P	0.44006	0.646;0.646;0.824	B;B;B	0.39465	0.225;0.142;0.3	T	0.42565	-0.9444	9	0.42905	T	0.14	-18.3521	9.6712	0.40013	1.0:0.0:0.0:0.0	.	1289;1413;1348	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	A	1413	ENSP00000326581:V1413A;ENSP00000403051:V1413A	ENSP00000326581:V1413A	V	-	2	0	ZIM2	62017384	0.005000	0.15991	0.956000	0.39512	0.293000	0.27360	0.200000	0.17257	2.061000	0.61500	0.533000	0.62120	GTG	PEG3	-	NULL	ENSG00000198300		0.592	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	60	0	A			57325572	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.676	G	G	57325572	A	G	57325572	3	3	56	1	0	0	0	0	1	0	0	0	11759	159	6	4	532	4	PEG3	19	57325572	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	13073715	57325572	1803411	180	13965											
TGM6	343641	genome.wustl.edu	37	chr20	2413135	2413135	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccctccccttcctccaGcgtgcctaccctggagcctc	3	10	6	22	1	1	0	0	0	1	0	6	1	4	1	9	1	4	0	9	1	1	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:2413135G>A	ENST00000202625.2	+	13	2028		c.e13-1		TGM6_ENST00000381423.1_Splice_Site	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6						cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTTCCTCCAGCGTGCCTACC	0.602																																																	0													80	69	73					20																	2413135		2203	4300	6503	SO:0001630	splice_region_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1968-1G>A	20.37:g.2413135G>A			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Splice_Site	SNP	-	e13-1	ENST00000202625.2	37	c.1968-1	CCDS13025.1	20	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819553	0.50633	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4986	0.61440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM6	2361135	0.996000	0.38824	0.789000	0.31954	0.173000	0.22820	5.013000	0.64023	2.632000	0.89209	0.655000	0.94253	.	TGM6	-	-	ENSG00000166948		0.602	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0	41	0	G	NM_198994	Intron	2413135	1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	splice_site	13.04	40	6	SNP	0.796	A	A	2413135	G	A	2413135	5	1	56	1	0	0	0	0	0	0	1	0	15881	985	34	3	2017	3	TGM6	20	2413135	Splice_Site	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		2413135	60612385	181	13966											
ATRN	8455	genome.wustl.edu	37	chr20	3557593	3557593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcaggagctgtgccctgGaccagaactgccagtgggag	8	6	16	11	0	0	1	0	0	0	1	0	4	0	4	3	3	5	3	3	3	1	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:3557593G>A	ENST00000262919.5	+	14	2370	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	ATRN_ENST00000446916.2_Missense_Mutation_p.D768N	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	768	PSI 2.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTGCCCTGGACCAGAACTG	0.537																																																	0													100	97	98					20																	3557593		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2302G>A	20.37:g.3557593G>A	ENSP00000262919:p.Asp768Asn		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.D768N	ENST00000262919.5	37	c.2302	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	12.20	1.867846	0.32977	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.05319	3.46;3.52	5.81	5.81	0.92471	.	0.045877	0.85682	D	0.000000	T	0.12305	0.0299	N	0.25144	0.715	0.80722	D	1	B;D	0.76494	0.007;0.999	B;D	0.69479	0.007;0.964	T	0.07404	-1.0774	10	0.05436	T	0.98	-22.7802	19.6765	0.95936	0.0:0.0:1.0:0.0	.	768;768	O75882;O75882-2	ATRN_HUMAN;.	N	768;768;694	ENSP00000262919:D768N;ENSP00000416587:D768N	ENSP00000262919:D768N	D	+	1	0	ATRN	3505593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.994000	0.88315	2.758000	0.94735	0.561000	0.74099	GAC	ATRN	-	smart_Plexin-like_fold	ENSG00000088812		0.537	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	-	0	71	0	G	NM_139321		3557593	1	tier1	-	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	16.42	56	11	SNP	1.000	A	A	3557593	G	A	3557593	3	1	56	1	0	0	0	0	1	0	0	0	1207	1174	41	3	2356	3	ATRN	20	3557593	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	1144458	3557593	59467927	182	13967											
JAG1	182	genome.wustl.edu	37	chr20	10625886	10625886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgttgttgcacgtggccTcatcacactgactgtcacct	7	11	8	15	2	3	1	3	1	0	0	3	1	3	1	3	1	1	3	3	1	0	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:10625886T>C	ENST00000254958.5	-	17	2647	c.2132A>G	c.(2131-2133)gAg>gGg	p.E711G	JAG1_ENST00000488480.1_RNA|JAG1_ENST00000423891.2_Missense_Mutation_p.E552G	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	711	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCACGTGGCCTCATCACACTG	0.532									Alagille Syndrome																																								0													122	102	109					20																	10625886		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"CD molecules"	6188	protein-coding gene	gene with protein product		601920	"Alagille syndrome"	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2132A>G	20.37:g.10625886T>C	ENSP00000254958:p.Glu711Gly		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.E711G	ENST00000254958.5	37	c.2132	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	T	15.75	2.924735	0.52653	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.88046	-2.33;-2.33	5.85	5.85	0.93711	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	N	0.02842	-0.48	0.80722	D	1	B	0.26120	0.142	B	0.23275	0.045	T	0.70876	-0.4753	10	0.30854	T	0.27	.	16.2303	0.82332	0.0:0.0:0.0:1.0	.	711	P78504	JAG1_HUMAN	G	711;552	ENSP00000254958:E711G;ENSP00000389519:E552G	ENSP00000254958:E711G	E	-	2	0	JAG1	10573886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.286000	0.72665	2.233000	0.73108	0.533000	0.62120	GAG	JAG1	-	pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000101384		0.532	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		-	0	46	0	T	NM_000214		10625886	-1	tier1	-	no_errors	ENST00000254958	ensembl	human	known	74_37	missense	62.71	22	37	SNP	1.000	C	C	10625886	T	C	10625886	3	2	56	1	0	0	0	0	1	0	0	0	7961	1551	54	4	1564	4	JAG1	20	10625886	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	7068293	10625886	52399634	183	13968											
ZNF337	26152	genome.wustl.edu	37	chr20	25657617	25657617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaattgtagttgctgttGcctctgatgtgcaagtccaa	11	13	10	7	0	1	2	0	1	1	1	2	2	2	2	2	0	3	5	2	0	5	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:25657617G>T	ENST00000376436.1	-	4	846	c.307C>A	c.(307-309)Caa>Aaa	p.Q103K	ZNF337_ENST00000538750.1_Missense_Mutation_p.Q71K|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.Q103K|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGTTGCTGTTGCCTCTGATGT	0.443																																																	0													62	58	60					20																	25657617		2203	4300	6503	SO:0001583	missense	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.307C>A	20.37:g.25657617G>T	ENSP00000365619:p.Gln103Lys		B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q103K	ENST00000376436.1	37	c.307	CCDS13174.1	20	.	.	.	.	.	.	.	.	.	.	.	12.52	1.964049	0.34659	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412;ENST00000538750	T;T;T	0.05649	3.47;3.47;3.41	0.462	0.462	0.16695	.	.	.	.	.	T	0.03011	0.0089	N	0.20685	0.6	0.20563	N	0.99989	B;B	0.28233	0.204;0.204	B;B	0.14023	0.01;0.01	T	0.43686	-0.9376	9	0.06494	T	0.89	.	6.7586	0.23528	1.0E-4:0.0:0.9999:0.0	.	71;103	B4DSM2;Q9Y3M9	.;ZN337_HUMAN	K	103;103;103;71	ENSP00000365619:Q103K;ENSP00000252979:Q103K;ENSP00000442181:Q71K	ENSP00000252979:Q103K	Q	-	1	0	ZNF337	25605617	0.023000	0.18921	0.098000	0.21074	0.854000	0.48673	2.426000	0.44731	0.513000	0.28278	0.306000	0.20318	CAA	ZNF337	-	NULL	ENSG00000130684		0.443	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1	-	0	43	0	G			25657617	-1	tier1	-	no_errors	ENST00000252979	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.618	T	T	25657617	G	T	25657617	3	4	56	1	0	0	0	0	1	0	0	0	17901	1328	46	3	1952	3	ZNF337	20	25657617	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	15031731	25657617	37367903	184	13969											
MYH7B	57644	genome.wustl.edu	37	chr20	33570357	33570357	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacgggccgggcaagaaggCcgtaagacttgcccactcgg	10	4	15	12	4	0	3	0	0	0	3	1	3	0	3	3	4	1	2	3	4	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:33570357C>T	ENST00000262873.7	+	8	841	c.749C>T	c.(748-750)gCc>gTc	p.A250V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	208	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGCAAGAAGGCCGTAAGACTT	0.517																																																	0													49	53	51					20																	33570357		1976	4155	6131	SO:0001630	splice_region_variant	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.750+1C>T	20.37:g.33570357C>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A250V	ENST00000262873.7	37	c.749	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584479	0.46110	.	.	ENSG00000078814	ENST00000262873	T	0.71461	-0.57	4.83	4.83	0.62350	Myosin head, motor domain (2);	0.000000	0.37669	N	0.001987	T	0.44052	0.1275	N	0.04018	-0.295	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39333	-0.9619	10	0.30078	T	0.28	.	6.7747	0.23613	0.0:0.5732:0.3313:0.0955	.	208	A7E2Y1	MYH7B_HUMAN	V	250	ENSP00000262873:A250V	ENSP00000262873:A250V	A	+	2	0	MYH7B	33034018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.458000	0.45014	2.504000	0.84457	0.511000	0.50034	GCC	MYH7B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000078814		0.517	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	62	0	C	NM_020884	Missense_Mutation	33570357	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	8.14	79	7	SNP	1.000	T	T	33570357	C	T	33570357	5	4	56	1	0	0	0	0	0	0	1	0	10078	753	26	3	779	3	MYH7B	20	33570357	Splice_Site	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	7912740	33570357	29455163	185	13970											
SLA2	84174	genome.wustl.edu	37	chr20	35242298	35242298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaaagagacagcctcgtCattcaggctgatgtagaagc	13	8	10	10	1	2	3	2	1	0	2	4	4	3	3	2	1	2	2	2	1	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:35242298C>T	ENST00000262866.4	-	8	1179	c.757G>A	c.(757-759)Gac>Aac	p.D253N	SLA2_ENST00000360672.2_3'UTR	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	253	SLA C-terminal.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACAGCCTCGTCATTCAGGCTG	0.567																																					Ovarian(59;720 1165 26994 46188 51693)												0													76	71	73					20																	35242298		2203	4300	6503	SO:0001583	missense	0			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.757G>A	20.37:g.35242298C>T	ENSP00000262866:p.Asp253Asn		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.D253N	ENST00000262866.4	37	c.757	CCDS13282.1	20	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444111	0.25987	.	.	ENSG00000101082	ENST00000262866	T	0.78126	-1.15	5.35	3.36	0.38483	.	0.700616	0.13759	N	0.364744	T	0.69611	0.3130	L	0.44542	1.39	0.39171	D	0.962595	B	0.14438	0.01	B	0.14023	0.01	T	0.67173	-0.5737	10	0.72032	D	0.01	-1.8779	8.938	0.35711	0.1686:0.6692:0.1622:0.0	.	253	Q9H6Q3	SLAP2_HUMAN	N	253	ENSP00000262866:D253N	ENSP00000262866:D253N	D	-	1	0	SLA2	34675712	0.642000	0.27260	0.126000	0.21872	0.099000	0.18886	1.748000	0.38308	0.899000	0.36444	0.655000	0.94253	GAC	SLA2	-	NULL	ENSG00000101082		0.567	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA2	HGNC	protein_coding	OTTHUMT00000079037.2		0	59	0	C	NM_175077		35242298	-1			no_errors	ENST00000262866	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.546	T	T	35242298	C	T	35242298	3	4	56	1	0	0	0	0	1	0	0	0	14409	826	29	3	32	3	SLA2	20	35242298	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	1671941	35242298	27783222	186	13971											
STAU1	6780	genome.wustl.edu	37	chr20	47734455	47734455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccatacaacaactctcgGgctatcatggcagttaccgt	10	9	7	15	2	2	0	1	0	1	0	3	0	2	0	3	2	4	3	3	2	5	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:47734455G>A	ENST00000371856.2	-	11	1778	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	STAU1_ENST00000371802.1_Silent_p.A381A|STAU1_ENST00000371792.1_Silent_p.A373A|STAU1_ENST00000360426.4_Silent_p.A375A|STAU1_ENST00000371828.3_Silent_p.A381A|STAU1_ENST00000347458.5_Silent_p.A375A|STAU1_ENST00000340954.7_Silent_p.A375A	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	456					intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAACTCTCGGGCTATCATGG	0.542																																																	0													143	136	139					20																	47734455		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.1368C>T	20.37:g.47734455G>A			A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Silent	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.A456	ENST00000371856.2	37	c.1368	CCDS13414.1	20																																																																																			STAU1	-	NULL	ENSG00000124214		0.542	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	-	0	72	0	G	NM_017453		47734455	-1	tier1	-	no_errors	ENST00000371856	ensembl	human	known	74_37	silent	15.53	87	16	SNP	1.000	A	A	47734455	G	A	47734455	2	1	56	1	0	0	0	0	0	0	0	1	15319	1219	43	3		3	STAU1	20	47734455	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	12492157	47734455	15291065	187	13972											
CDH4	1002	genome.wustl.edu	37	chr20	60511879	60511879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaggggagcggctccaccGcaggctccgtcagctccctg	6	5	14	16	4	1	0	1	0	0	0	4	2	4	1	4	4	2	4	4	4	0	0			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr20:60511879G>A	ENST00000360469.5	+	16	2717	c.2629G>A	c.(2629-2631)Gca>Aca	p.A877T	CDH4_ENST00000543233.1_Missense_Mutation_p.A803T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	877	Ser-rich.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGCTCCACCGCAGGCTCCGT	0.622																																																	0													52	48	49					20																	60511879		2203	4299	6502	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2629G>A	20.37:g.60511879G>A	ENSP00000353656:p.Ala877Thr		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.A877T	ENST00000360469.5	37	c.2629	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.395393	0.96009	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.82255	-1.59;-1.59	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91178	0.7221	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91966	0.5583	9	.	.	.	.	17.1925	0.86883	0.0:0.0:1.0:0.0	.	877	P55283	CADH4_HUMAN	T	877;785;803	ENSP00000353656:A877T;ENSP00000443301:A803T	.	A	+	1	0	CDH4	59945274	1.000000	0.71417	0.998000	0.56505	0.863000	0.49368	9.524000	0.98036	2.068000	0.61886	0.467000	0.42956	GCA	CDH4	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000179242		0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	31	0	G	NM_001794		60511879	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A	A	60511879	G	A	60511879	3	1	56	1	0	0	0	0	1	0	0	0	3119	1087	38	1	2691	1	CDH4	20	60511879	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	12777424	60511879	2513641	188	13973											
KRTAP19-5	337972	genome.wustl.edu	37	chr21	31874223	31874223	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaatccatatcctccataGcatgatggacggcagctgcg	11	8	11	11	2	0	2	0	1	0	1	3	4	3	3	3	2	3	3	3	2	3	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr21:31874223G>T	ENST00000334151.2	-	1	212	c.186C>A	c.(184-186)tgC>tgA	p.C62*		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	62						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						ATCCTCCATAGCATGATGGAC	0.517																																																	0													103	102	103					21																	31874223		2203	4300	6503	SO:0001587	stop_gained	0			AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"Keratin associated proteins"	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.186C>A	21.37:g.31874223G>T	ENSP00000334985:p.Cys62*		A4IF22	Nonsense_Mutation	SNP	pfam_KRTAP_type6/8/16/19/20	p.C62*	ENST00000334151.2	37	c.186	CCDS13597.1	21	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570307	0.45798	.	.	ENSG00000186977	ENST00000334151	.	.	.	5.16	0.145	0.14829	.	1.338540	0.05734	U	0.600006	.	.	.	.	.	.	0.21740	N	0.999565	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0251	1.5421	0.02557	0.2283:0.151:0.4657:0.1549	.	.	.	.	X	62	.	ENSP00000334985:C62X	C	-	3	2	KRTAP19-5	30796094	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	0.032000	0.13732	-0.088000	0.12506	0.591000	0.81541	TGC	KRTAP19-5	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000186977		0.517	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-5	HGNC	protein_coding	OTTHUMT00000128226.2	-	0	83	0	G			31874223	-1	tier1	-	no_errors	ENST00000334151	ensembl	human	known	74_37	nonsense	21.05	75	20	SNP	0.000	T	T	31874223	G	T	31874223	4	4	56	1	0	0	0	0	0	1	0	0	8559	963	34	3	35	3	KRTAP19-5	21	31874223	Nonsense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		31874223	16255672	189	13974											
UBASH3A	53347	genome.wustl.edu	37	chr21	43829716	43829716	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactctgtgacttcttcaCggtgagtcaacccagtgtgc	8	11	10	12	1	4	2	2	2	2	0	4	3	4	2	1	1	2	0	1	1	1	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr21:43829716C>T	ENST00000319294.6	+	3	384	c.353C>T	c.(352-354)aCg>aTg	p.T118M	UBASH3A_ENST00000398367.1_Splice_Site_p.T118M|UBASH3A_ENST00000291535.6_Splice_Site_p.T118M|UBASH3A_ENST00000450356.1_Splice_Site_p.T118M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	118					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GACTTCTTCACGGTGAGTCAA	0.488																																																	0													112	97	102					21																	43829716		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.354+1C>T	21.37:g.43829716C>T			G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.T118M	ENST00000319294.6	37	c.353	CCDS13687.1	21	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512157	0.64522	.	.	ENSG00000160185	ENST00000291535;ENST00000450356;ENST00000319294;ENST00000398367	T;T;T;T	0.42900	0.96;1.87;1.87;0.96	5.64	4.76	0.60689	.	0.000000	0.64402	D	0.000007	T	0.50990	0.1648	L	0.45698	1.435	0.39643	D	0.97035	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.69824	0.939;0.966;0.879	T	0.47923	-0.9079	10	0.13470	T	0.59	-27.8673	10.79	0.46428	0.0:0.8549:0.0:0.1451	.	118;118;118	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	118	ENSP00000291535:T118M;ENSP00000407179:T118M;ENSP00000317327:T118M;ENSP00000381408:T118M	ENSP00000291535:T118M	T	+	2	0	UBASH3A	42702785	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	4.196000	0.58407	1.404000	0.46819	-0.151000	0.13558	ACG	UBASH3A	-	NULL	ENSG00000160185		0.488	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	UBASH3A	HGNC	protein_coding	OTTHUMT00000195382.1		0	39	0	C	NM_001001895	Missense_Mutation	43829716	1			no_errors	ENST00000319294	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	43829716	C	T	43829716	5	4	56	1	0	0	0	0	0	0	1	0	16888	550	19	1	363	1	UBASH3A	21	43829716	Splice_Site	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	11955493	43829716	4300179	190	13975											
RSPH1	89765	genome.wustl.edu	37	chr21	43913166	43913166	+	Missense_Mutation	SNP	C	C	A																															cgtccgtgcctttcgcctgcCtcattccgacccccctcata																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr21:43913166C>A	ENST00000291536.3	-	2	245	c.78G>T	c.(76-78)gaG>gaT	p.E26D	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	26					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						TTTCGCCTGCCTCATTCCGAC	0.507																																					Esophageal Squamous(23;63 706 6286 10288 12913)												0													209	195	199					21																	43913166		2203	4300	6503	SO:0001583	missense	0			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.78G>T	21.37:g.43913166C>A	ENSP00000291536:p.Glu26Asp		A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.E26D	ENST00000291536.3	37	c.78	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820155	0.32145	.	.	ENSG00000160188	ENST00000291536	T	0.43688	0.94	5.08	-0.596	0.11657	.	0.213759	0.47455	N	0.000229	T	0.25121	0.0610	L	0.47016	1.485	0.58432	D	0.999999	B	0.25048	0.117	B	0.23419	0.046	T	0.05241	-1.0897	10	0.20519	T	0.43	.	1.1984	0.01880	0.2156:0.3154:0.1058:0.3632	.	26	Q8WYR4	RSPH1_HUMAN	D	26	ENSP00000291536:E26D	ENSP00000291536:E26D	E	-	3	2	RSPH1	42786235	0.013000	0.17824	0.283000	0.24790	0.549000	0.35272	-0.222000	0.09190	-0.092000	0.12417	0.563000	0.77884	GAG	RSPH1	-	NULL	ENSG00000160188		0.507	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	HGNC	protein_coding	OTTHUMT00000195379.1	-	0	67	0	C			43913166	-1	tier1	-	no_errors	ENST00000291536	ensembl	human	known	74_37	missense	43.33	34	26	SNP	0.623	A	A	43913166	C	A	43913166	3	1	56	1	0	0	0	0	1	0	0	0	13747	680	24	3	883	3	RSPH1	21	43913166	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	83450	43913166	4216729	191	13976	54	2									
RSPH1	89765	genome.wustl.edu	37	chr21	43913176	43913176	+	Missense_Mutation	SNP	C	C	T																															tttcgcctgcctcattccgaCccccctcatattcctgggta																										TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr21:43913176C>T	ENST00000291536.3	-	2	235	c.68G>A	c.(67-69)gGt>gAt	p.G23D	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	23					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CTCATTCCGACCCCCCTCATA	0.498																																					Esophageal Squamous(23;63 706 6286 10288 12913)												0													190	179	183					21																	43913176		2203	4300	6503	SO:0001583	missense	0			AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"meichroacidin"	609314	"testis specific A2 homolog (mouse)"	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.68G>A	21.37:g.43913176C>T	ENSP00000291536:p.Gly23Asp		A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.G23D	ENST00000291536.3	37	c.68	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	C	7.354	0.623463	0.14193	.	.	ENSG00000160188	ENST00000291536	T	0.58210	0.35	5.08	1.3	0.21679	.	0.746157	0.13555	N	0.379225	T	0.21022	0.0506	N	0.01289	-0.905	0.53688	D	0.999976	B	0.02656	0.0	B	0.01281	0.0	T	0.03231	-1.1058	10	0.34782	T	0.22	.	6.5972	0.22681	0.0:0.1387:0.1307:0.7307	.	23	Q8WYR4	RSPH1_HUMAN	D	23	ENSP00000291536:G23D	ENSP00000291536:G23D	G	-	2	0	RSPH1	42786245	0.780000	0.28664	0.147000	0.22382	0.241000	0.25554	1.121000	0.31283	0.055000	0.16094	-1.632000	0.00781	GGT	RSPH1	-	NULL	ENSG00000160188		0.498	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	HGNC	protein_coding	OTTHUMT00000195379.1	-	0	67	0	C			43913176	-1	tier1	-	no_errors	ENST00000291536	ensembl	human	known	74_37	missense	39.22	31	20	SNP	0.405	T	T	43913176	C	T	43913176	3	4	56	1	0	0	0	0	1	0	0	0	13747	507	18	3	893	3	RSPH1	21	43913176	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	10	43913176	4216719	192	13977	54	2									
TRAPPC10	7109	genome.wustl.edu	37	chr21	45502896	45502896	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaccaagcacaagacgTccaatgggatcattaacttt	13	10	8	10	1	1	1	1	0	0	1	2	2	2	2	2	2	3	2	2	2	5	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr21:45502896T>C	ENST00000291574.4	+	14	2126	c.1951T>C	c.(1951-1953)Tcc>Ccc	p.S651P		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	651					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCACAAGACGTCCAATGGGAT	0.502																																																	0													167	156	160					21																	45502896		2203	4300	6503	SO:0001583	missense	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.1951T>C	21.37:g.45502896T>C	ENSP00000291574:p.Ser651Pro		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.S651P	ENST00000291574.4	37	c.1951	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	T	8.234	0.805211	0.16467	.	.	ENSG00000160218	ENST00000291574	T	0.24350	1.86	5.58	-4.0	0.04057	.	0.604665	0.19428	N	0.114536	T	0.11367	0.0277	N	0.14661	0.345	0.25547	N	0.987126	B	0.02656	0.0	B	0.04013	0.001	T	0.21999	-1.0229	10	0.22109	T	0.4	.	10.3658	0.44024	0.0:0.1344:0.5911:0.2746	.	651	P48553	TPC10_HUMAN	P	651	ENSP00000291574:S651P	ENSP00000291574:S651P	S	+	1	0	TRAPPC10	44327324	0.030000	0.19436	0.029000	0.17559	0.495000	0.33615	0.035000	0.13797	-0.998000	0.03446	-0.291000	0.09656	TCC	TRAPPC10	-	NULL	ENSG00000160218		0.502	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	-	0	37	0	T	NM_003274		45502896	1	tier1	-	no_errors	ENST00000291574	ensembl	human	known	74_37	missense	39.13	28	18	SNP	0.024	C	C	45502896	T	C	45502896	3	2	56	1	0	0	0	0	1	0	0	0	16505	1667	58	4	2005	4	TRAPPC10	21	45502896	Missense_Mutation	SNP	T	TCGA-L5-A4OG-01A-11D-A27G-09	1589720	45502896	2626999	193	13978											
CHEK2	11200	genome.wustl.edu	37	chr22	29083913	29083913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcacacacagctgggCgctttgtggtctcggcaccc	7	7	12	15	2	1	0	0	0	1	0	2	0	1	0	1	3	3	5	1	3	0	1	rs544216926	byFrequency	TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr22:29083913C>T	ENST00000405598.1	-	16	1795	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.R506H|CHEK2_ENST00000382565.1_Missense_Mutation_p.R155H|CHEK2_ENST00000403642.1_Missense_Mutation_p.R444H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R506H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R535H|CHEK2_ENST00000544772.1_Missense_Mutation_p.R314H|CHEK2_ENST00000382580.2_Missense_Mutation_p.R578H|CHEK2_ENST00000328354.6_Missense_Mutation_p.R535H|CHEK2_ENST00000382578.1_Missense_Mutation_p.R444H			O96017	CHK2_HUMAN	checkpoint kinase 2	535					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CACAGCTGGGCGCTTTGTGGT	0.458			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					C|||	2	0.000399361	0	0	5008	,	,		18131	0		0	False		,,,				2504	0.002						yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													42	44	44					22																	29083913		1368	2307	3675	SO:0001583	missense	0			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1604G>A	22.37:g.29083913C>T	ENSP00000386087:p.Arg535His		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.R578H	ENST00000405598.1	37	c.1733	CCDS13843.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.39|19.39	3.819005|3.819005	0.71028|0.71028	.|.	.|.	ENSG00000183765|ENSG00000183765	ENST00000434810;ENST00000456369|ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	.|T;T;T;T;T;T;T;T;T;T	.|0.68331	.|0.76;-0.26;-0.32;-0.26;-0.27;-0.27;-0.27;-0.23;-0.26;0.76	4.76|4.76	2.63|2.63	0.31362|0.31362	.|.	.|0.439613	.|0.22360	.|N	.|0.061096	T|T	0.64349|0.64349	0.2590|0.2590	N|N	0.24115|0.24115	0.695|0.695	0.20926|0.20926	N|N	0.999824|0.999824	.|D;D;D;D;D;D	.|0.89917	.|1.0;0.958;0.999;0.999;0.99;0.998	.|D;B;P;P;P;P	.|0.63703	.|0.917;0.431;0.826;0.897;0.469;0.78	T|T	0.52646|0.52646	-0.8548|-0.8548	5|10	.|0.48119	.|T	.|0.1	-4.4609|-4.4609	7.9154|7.9154	0.29814|0.29814	0.0:0.798:0.0:0.202|0.0:0.798:0.0:0.202	.|.	.|444;314;535;506;535;578	.|O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.|.;.;.;.;CHK2_HUMAN;.	T|H	268;136|506;444;155;218;314;535;535;535;578;444;506	.|ENSP00000329012:R506H;ENSP00000372021:R444H;ENSP00000372006:R155H;ENSP00000442458:R314H;ENSP00000329178:R535H;ENSP00000385747:R535H;ENSP00000386087:R535H;ENSP00000372023:R578H;ENSP00000384919:R444H;ENSP00000384835:R506H	.|ENSP00000329178:R535H	A|R	-|-	1|2	0|0	CHEK2|CHEK2	27413913|27413913	0.360000|0.360000	0.24964|0.24964	0.833000|0.833000	0.33012|0.33012	0.169000|0.169000	0.22640|0.22640	0.471000|0.471000	0.22100|0.22100	1.136000|1.136000	0.42199|0.42199	0.557000|0.557000	0.71058|0.71058	GCC|CGC	CHEK2	-	NULL	ENSG00000183765		0.458	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1		0	49	0	C	NM_001005735		29083913	-1			no_errors	ENST00000382580	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.189	T	T	29083913	C	T	29083913	3	4	56	1	0	0	0	0	1	0	0	0	3342	768	27	1	31	1	CHEK2	22	29083913	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09		29083913	22220653	194	13979											
SFI1	9814	genome.wustl.edu	37	chr22	32002366	32002366	+	Frame_Shift_Del	DEL	A	A	-																															tggcccgagtggatgaagccAaaaaaacctttcaagcaagt																								rs548693448		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr22:32002366delA	ENST00000400288.2	+	21	2212	c.2107delA	c.(2107-2109)aaafs	p.K704fs	SFI1_ENST00000414585.1_Frame_Shift_Del_p.K551fs|SFI1_ENST00000432498.1_Frame_Shift_Del_p.K673fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.K551fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.K622fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.K622fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.K649fs	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	704					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGATGAAGCCAAAAAAACCTT	0.512																																																	0													86	86	86					22																	32002366		2033	4185	6218	SO:0001589	frameshift_variant	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2107delA	22.37:g.32002366delA	ENSP00000383145:p.Lys704fs		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Del	DEL	superfamily_Cyclin-like	p.T705fs	ENST00000400288.2	37	c.2107	CCDS43004.1	22																																																																																			SFI1	-	superfamily_Cyclin-like	ENSG00000198089		0.512	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3		0	23	0	A	NM_014775		32002366	1	tier1		no_errors	ENST00000400288	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.055	-	-	32002366	A	-	32002366	7	5	56	1	0	1	0	1	0	0	0	0	14201	131	5	0	2185	0	SFI1	22	32002366	Frame_Shift_Del	DEL	A	TCGA-L5-A4OG-01A-11D-A27G-09	2918453	32002366	19302200	195	13980											
SSTR3	6753	genome.wustl.edu	37	chr22	37602896	37602896	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttgaagcggtaggagAggaagccataaaggatgggg	12	6	17	6	1	0	2	0	1	0	1	0	5	0	4	2	6	3	2	2	6	5	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr22:37602896A>C	ENST00000328544.3	-	2	1480	c.947T>G	c.(946-948)cTc>cGc	p.L316R	SSTR3_ENST00000402501.1_Missense_Mutation_p.L316R	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	316					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCGGTAGGAGAGGAAGCCATA	0.657																																																	0													64	57	60					22																	37602896		2203	4300	6503	SO:0001583	missense	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.947T>G	22.37:g.37602896A>C	ENSP00000330138:p.Leu316Arg		A8K550|Q53ZR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.L316R	ENST00000328544.3	37	c.947	CCDS13944.1	22	.	.	.	.	.	.	.	.	.	.	A	22.2	4.261161	0.80246	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.37058	1.22;1.22	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64639	-0.6360	10	0.87932	D	0	.	15.2332	0.73407	1.0:0.0:0.0:0.0	.	316	P32745	SSR3_HUMAN	R	316	ENSP00000330138:L316R;ENSP00000384904:L316R	ENSP00000330138:L316R	L	-	2	0	SSTR3	35932842	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.313000	0.96297	1.991000	0.58162	0.460000	0.39030	CTC	SSTR3	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt	ENSG00000183473		0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0	93	0	A			37602896	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	missense	17.05	73	15	SNP	1.000	C	C	37602896	A	C	37602896	3	2	56	1	0	0	0	0	1	0	0	0	15246	304	11	4	313	4	SSTR3	22	37602896	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	5600530	37602896	13701670	196	13981											
SMCR7L	54471	genome.wustl.edu	37	chr22	39909685	39909685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagcagttactgggaccGctgtgtagtagggggctacc	7	9	17	8	1	0	0	0	0	0	0	0	2	0	2	2	4	3	6	2	4	4	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr22:39909685G>A	ENST00000325301.2	+	6	1173	c.749G>A	c.(748-750)cGc>cAc	p.R250H	MIEF1_ENST00000402881.1_Missense_Mutation_p.R250H|MIEF1_ENST00000404569.1_Missense_Mutation_p.R250H	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	250					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.R250H(1)									TACTGGGACCGCTGTGTAGTA	0.527																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0			AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"Smith-Magenis syndrome chromosome region, candidate 7-like"	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.749G>A	22.37:g.39909685G>A	ENSP00000327124:p.Arg250His		Q7L890|Q9BUI3	Missense_Mutation	SNP	NULL	p.R250H	ENST00000325301.2	37	c.749	CCDS13995.1	22	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597280	0.87055	.	.	ENSG00000100335	ENST00000402881;ENST00000325301;ENST00000404569	T;T;T	0.08984	3.03;3.03;3.03	6.07	5.05	0.67936	.	0.043881	0.85682	N	0.000000	T	0.27205	0.0667	M	0.66297	2.02	0.80722	D	1	D;B	0.89917	1.0;0.252	D;B	0.85130	0.997;0.071	T	0.01056	-1.1466	10	0.41790	T	0.15	-19.8594	15.4926	0.75619	0.0661:0.0:0.9339:0.0	.	250;250	Q9NQG6;B0QY95	MID51_HUMAN;.	H	250	ENSP00000385110:R250H;ENSP00000327124:R250H;ENSP00000385191:R250H	ENSP00000327124:R250H	R	+	2	0	SMCR7L	38239631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.858000	0.99539	1.581000	0.49865	0.655000	0.94253	CGC	MIEF1	-	NULL	ENSG00000100335		0.527	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEF1	HGNC	protein_coding	OTTHUMT00000321325.1		0	48	0	G	NM_019008		39909685	1			no_errors	ENST00000325301	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	39909685	G	A	39909685	3	1	56	1	0	0	0	0	1	0	0	0	14836	1087	38	1	763	1	SMCR7L	22	39909685	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	2306789	39909685	11394881	197	13982											
CACNA1I	8911	genome.wustl.edu	37	chr22	40080328	40080328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccaagtcccttctcccCggatgcctccagccctctcc	5	8	5	23	1	2	0	0	0	2	0	6	1	4	1	9	1	2	0	9	1	1	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr22:40080328C>A	ENST00000402142.3	+	36	5852	c.5852C>A	c.(5851-5853)cCg>cAg	p.P1951Q	CACNA1I_ENST00000401624.1_Missense_Mutation_p.P1951Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.P1916Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P1916Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P1916Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.P1957Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1951					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCTTCTCCCCGGATGCCTCC	0.642																																																	0													41	47	45					22																	40080328		2024	4156	6180	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5852C>A	22.37:g.40080328C>A	ENSP00000385019:p.Pro1951Gln		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.P1957Q	ENST00000402142.3	37	c.5870	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804545	0.50315	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96940	-4.16;-4.13;-4.12;-4.08;-4.18;-4.09	5.05	1.47	0.22746	.	4.843300	0.00465	N	0.000112	D	0.94909	0.8354	L	0.27053	0.805	0.29150	N	0.878439	P;P;P;P	0.46220	0.729;0.729;0.874;0.8	B;B;P;P	0.48368	0.285;0.401;0.575;0.497	D	0.87434	0.2390	10	0.87932	D	0	.	10.2744	0.43501	0.0:0.7678:0.0:0.2322	.	1916;1951;1916;1951	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	1951;1916;1951;1916;1957;1916	ENSP00000385019:P1951Q;ENSP00000384093:P1916Q;ENSP00000383887:P1951Q;ENSP00000385680:P1916Q;ENSP00000337829:P1957Q;ENSP00000383028:P1916Q	ENSP00000337829:P1957Q	P	+	2	0	CACNA1I	38410274	0.944000	0.32072	0.943000	0.38184	0.452000	0.32318	1.832000	0.39151	0.088000	0.17205	-0.254000	0.11334	CCG	CACNA1I	-	NULL	ENSG00000100346		0.642	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0	28	0	C	NM_001003406		40080328	1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.998	A	A	40080328	C	A	40080328	3	1	56	1	0	0	0	0	1	0	0	0	2553	652	23	2	5994	2	CACNA1I	22	40080328	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	170643	40080328	11224238	198	13983											
GRAP2	9402	genome.wustl.edu	37	chr22	40362100	40362100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagctggtagactactacAggacaaattccatctccaga	15	9	7	10	0	1	2	0	0	1	2	3	3	2	3	2	2	3	2	2	2	5	5			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chr22:40362100A>G	ENST00000344138.4	+	5	660	c.397A>G	c.(397-399)Agg>Ggg	p.R133G	GRAP2_ENST00000544756.1_Missense_Mutation_p.R61G|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000399090.2_Intron|RP3-370M22.8_ENST00000424496.1_RNA|GRAP2_ENST00000407075.3_Missense_Mutation_p.R133G|GRAP2_ENST00000543252.1_Missense_Mutation_p.R93G|GRAP2_ENST00000540310.1_Missense_Mutation_p.R67G	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	133	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGACTACTACAGGACAAATTC	0.453																																																	0													114	98	103					22																	40362100		2203	4300	6503	SO:0001583	missense	0			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.397A>G	22.37:g.40362100A>G	ENSP00000339186:p.Arg133Gly		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.R133G	ENST00000344138.4	37	c.397	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	A	17.36	3.368801	0.61624	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000407075	T;D;D;D;T	0.82984	-0.08;-1.67;-1.67;-1.67;-0.08	6.03	2.27	0.28462	SH2 motif (4);	0.311047	0.40469	N	0.001096	D	0.87783	0.6264	M	0.75777	2.31	0.46185	D	0.998915	P;D;D;P	0.56746	0.868;0.977;0.961;0.868	B;P;P;B	0.55923	0.185;0.787;0.541;0.185	D	0.88762	0.3258	10	0.87932	D	0	-26.0301	14.5834	0.68308	0.6346:0.3654:0.0:0.0	.	133;67;107;133	Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;GRAP2_HUMAN	G	133;93;107;67;61;133	ENSP00000339186:R133G;ENSP00000446350:R93G;ENSP00000444734:R67G;ENSP00000442195:R61G;ENSP00000385607:R133G	ENSP00000339186:R133G	R	+	1	2	GRAP2	38692046	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.384000	0.52478	0.471000	0.27319	0.533000	0.62120	AGG	GRAP2	-	smart_SH2,pfscan_SH2,prints_SH2	ENSG00000100351		0.453	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	HGNC	protein_coding	OTTHUMT00000321295.1	-	0	28	0	A	NM_004810		40362100	1	tier1	-	no_errors	ENST00000344138	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	G	G	40362100	A	G	40362100	3	3	56	1	0	0	0	0	1	0	0	0	6781	179	7	4	411	4	GRAP2	22	40362100	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	281772	40362100	10942466	199	13984											
PRDX4	10549	genome.wustl.edu	37	chrX	23685898	23685898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcccgggtatcggtcgccGaccactccctgcacctaagc	7	7	9	18	4	0	0	0	0	0	0	4	1	2	0	5	2	2	2	5	2	2	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:23685898G>A	ENST00000379341.4	+	1	336	c.211G>A	c.(211-213)Gac>Aac	p.D71N	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Missense_Mutation_p.D71N	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	71					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATCGGTCGCCGACCACTCCCT	0.642																																																	0													38	33	35					X																	23685898		2201	4300	6501	SO:0001583	missense	0			U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.211G>A	X.37:g.23685898G>A	ENSP00000368646:p.Asp71Asn		Q6FHT3	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.D71N	ENST00000379341.4	37	c.211	CCDS14206.1	X	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439558	0.63067	.	.	ENSG00000123131	ENST00000379341;ENST00000379331	T;T	0.49139	2.46;0.79	4.69	2.85	0.33270	.	0.145719	0.64402	D	0.000012	T	0.40171	0.1106	L	0.52905	1.665	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.21245	-1.0251	10	0.44086	T	0.13	-4.5275	9.0977	0.36649	0.0842:0.1442:0.7716:0.0	.	71	Q13162	PRDX4_HUMAN	N	71	ENSP00000368646:D71N;ENSP00000368635:D71N	ENSP00000368635:D71N	D	+	1	0	PRDX4	23595819	1.000000	0.71417	0.269000	0.24586	0.874000	0.50279	5.086000	0.64474	0.484000	0.27630	0.594000	0.82650	GAC	PRDX4	-	NULL	ENSG00000123131		0.642	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX4	HGNC	protein_coding	OTTHUMT00000056049.1	-	0	70	0	G	NM_006406		23685898	1	tier1	-	no_errors	ENST00000379341	ensembl	human	known	74_37	missense	45.00	44	36	SNP	0.993	A	A	23685898	G	A	23685898	3	1	56	1	0	0	0	0	1	0	0	0	12509	1058	37	1	213	1	PRDX4	23	23685898	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09		23685898	131584662	200	13985											
GK	2710	genome.wustl.edu	37	chrX	30739005	30739005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaaccactgcactgggtgCggctatggcggcaggggctg	7	6	17	11	3	0	0	0	0	0	0	0	1	0	0	1	6	3	4	1	6	2	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:30739005C>T	ENST00000378943.3	+	17	1555	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378946.3_Missense_Mutation_p.A465V|GK_ENST00000378945.3_Missense_Mutation_p.A459V|GK_ENST00000427190.1_Missense_Mutation_p.A260V|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	465					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GCACTGGGTGCGGCTATGGCG	0.517																																																	0													37	34	35					X																	30739005		2202	4300	6502	SO:0001583	missense	0			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"Glycerol kinases"	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.1376C>T	X.37:g.30739005C>T	ENSP00000368226:p.Ala459Val		A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.A459V	ENST00000378943.3	37	c.1376	CCDS48090.1	X	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408845	0.62399	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000427190;ENST00000451432;ENST00000378938	D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49	5.46	5.46	0.80206	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94424	0.8206	M	0.80746	2.51	0.80722	D	1	B;B;B;B;B	0.29571	0.249;0.249;0.21;0.21;0.249	B;B;B;B;B	0.26416	0.052;0.069;0.025;0.025;0.069	D	0.93381	0.6743	10	0.59425	D	0.04	.	18.5995	0.91242	0.0:1.0:0.0:0.0	.	302;465;459;459;465	E7EQC0;P32189;P32189-2;P32189-1;A6NJP5	.;GLPK_HUMAN;.;.;.	V	465;459;465;459;260;302;54	ENSP00000368229:A465V;ENSP00000368226:A459V;ENSP00000368228:A459V;ENSP00000401720:A260V;ENSP00000368221:A54V	ENSP00000368221:A54V	A	+	2	0	GK	30648926	1.000000	0.71417	0.708000	0.30435	0.604000	0.37047	6.030000	0.70903	2.423000	0.82170	0.596000	0.82720	GCG	GK	-	pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	ENSG00000198814		0.517	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056170.1	-	0	49	0	C	NM_000167		30739005	1	tier1	-	no_errors	ENST00000378943	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	30739005	C	T	30739005	3	4	56	1	0	0	0	0	1	0	0	0	6446	768	27	1	1464	1	GK	23	30739005	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	7053107	30739005	124531555	201	13986											
ZNF81	347344	genome.wustl.edu	37	chrX	47774637	47774637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgattcatttgggaagAgttttaagcataatttagac	14	14	9	4	1	1	3	1	1	0	2	1	4	1	4	0	1	2	2	0	1	5	7			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:47774637A>G	ENST00000376954.1	+	6	960	c.592A>G	c.(592-594)Agt>Ggt	p.S198G	ZNF81_ENST00000338637.7_Missense_Mutation_p.S198G			P51508	ZNF81_HUMAN	zinc finger protein 81	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATTTGGGAAGAGTTTTAAGCA	0.343																																																	0													47	44	45					X																	47774637		1816	4071	5887	SO:0001583	missense	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.592A>G	X.37:g.47774637A>G	ENSP00000366153:p.Ser198Gly		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S198G	ENST00000376954.1	37	c.592	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	A	3.833	-0.035387	0.07497	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.06687	3.27;3.27	4.04	-2.18	0.07037	.	1.339640	0.04937	N	0.458045	T	0.06188	0.0160	L	0.35723	1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	10	0.37606	T	0.19	.	0.6011	0.00745	0.2214:0.1935:0.315:0.27	.	198	P51508	ZNF81_HUMAN	G	198	ENSP00000366153:S198G;ENSP00000341151:S198G	ENSP00000341151:S198G	S	+	1	0	ZNF81	47659581	0.000000	0.05858	0.188000	0.23233	0.965000	0.64279	-1.174000	0.03105	-0.613000	0.05694	-0.396000	0.06452	AGT	ZNF81	-	NULL	ENSG00000197779		0.343	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	-	0	46	0	A	NM_007137		47774637	1	tier1	-	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	46.34	22	19	SNP	0.022	G	G	47774637	A	G	47774637	3	3	56	1	0	0	0	0	1	0	0	0	18222	304	11	4	606	4	ZNF81	23	47774637	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	17035632	47774637	107495923	202	13987											
HUWE1	10075	genome.wustl.edu	37	chrX	53635828	53635828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccacattaaggatgtaAtccatgaggggaataggaat	15	10	10	6	0	0	1	0	1	0	0	1	4	1	4	2	4	1	1	2	4	6	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:53635828A>T	ENST00000342160.3	-	23	2761	c.2304T>A	c.(2302-2304)gaT>gaA	p.D768E	HUWE1_ENST00000262854.6_Missense_Mutation_p.D768E|HUWE1_ENST00000218328.8_Missense_Mutation_p.D768E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	768					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAAGGATGTAATCCATGAGGG	0.373																																																	0													176	147	157					X																	53635828		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2304T>A	X.37:g.53635828A>T	ENSP00000340648:p.Asp768Glu		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.D768E	ENST00000342160.3	37	c.2304	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301904	0.40694	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.40225	1.04;1.04;1.04	4.8	4.8	0.61643	E3 ubiquitin ligase, domain of unknown function DUF913 (1);	.	.	.	.	T	0.38295	0.1035	L	0.33485	1.01	0.41859	D	0.990212	P	0.37370	0.592	P	0.46758	0.526	T	0.20009	-1.0288	9	0.27785	T	0.31	.	7.8834	0.29635	0.8995:0.0:0.1005:0.0	.	768	Q7Z6Z7	HUWE1_HUMAN	E	768	ENSP00000340648:D768E;ENSP00000262854:D768E;ENSP00000218328:D768E	ENSP00000218328:D768E	D	-	3	2	HUWE1	53652553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.146000	0.42216	1.581000	0.49865	0.486000	0.48141	GAT	HUWE1	-	pfam_E3_Ub_ligase_DUF913	ENSG00000086758		0.373	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	26	0	A	XM_497119		53635828	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	36.84	24	14	SNP	1.000	T	T	53635828	A	T	53635828	3	4	56	1	0	0	0	0	1	0	0	0	7488	98	4	5	11064	5	HUWE1	23	53635828	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	5861191	53635828	101634732	203	13988											
SPIN3	169981	genome.wustl.edu	37	chrX	57021369	57021369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcagctgcctttccaaaCggggtcttcatgcctgcgaa	7	10	10	14	2	2	0	1	0	1	0	3	1	3	0	4	2	6	2	4	2	2	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:57021369C>T	ENST00000374919.3	-	2	334	c.12G>A	c.(10-12)ccG>ccA	p.P4P		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	4				P -> A (in Ref. 1; BAH14098). {ECO:0000305}.	gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTTTCCAAACGGGGTCTTCA	0.522																																																	0													31	30	31					X																	57021369		2067	4168	6235	SO:0001819	synonymous_variant	0			AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.12G>A	X.37:g.57021369C>T			B2RUW3|B7Z8W2|Q8N5D9	Silent	SNP	pfam_Spin_Ssty	p.P4	ENST00000374919.3	37	c.12	CCDS43963.1	X																																																																																			SPIN3	-	NULL	ENSG00000204271		0.522	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN3	HGNC	protein_coding	OTTHUMT00000056908.1	-	0	48	0	C	XM_093024		57021369	-1	tier1	-	no_errors	ENST00000374919	ensembl	human	known	74_37	silent	37.25	32	19	SNP	0.006	T	T	57021369	C	T	57021369	2	4	56	1	0	0	0	0	0	0	0	1	15102	523	19	1		1	SPIN3	23	57021369	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	3385541	57021369	98249191	204	13989											
MSN	4478	genome.wustl.edu	37	chrX	64959699	64959699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacaaatacaagaccctgCgccagatccggcagggcaac	14	3	11	13	2	0	3	0	0	0	3	1	4	1	3	3	2	3	2	3	2	4	1			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:64959699C>T	ENST00000360270.5	+	13	1850	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	560					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CAAGACCCTGCGCCAGATCCG	0.542			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													123	98	106					X																	64959699		2203	4300	6503	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1678C>T	X.37:g.64959699C>T	ENSP00000353408:p.Arg560Cys			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.R560C	ENST00000360270.5	37	c.1678	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297814	0.81025	.	.	ENSG00000147065	ENST00000360270	D	0.88277	-2.36	5.67	5.67	0.87782	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96138	0.9098	10	0.66056	D	0.02	.	17.135	0.86737	0.0:1.0:0.0:0.0	.	560	P26038	MOES_HUMAN	C	560	ENSP00000353408:R560C	ENSP00000353408:R560C	R	+	1	0	MSN	64876424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.847000	0.62867	2.368000	0.80403	0.594000	0.82650	CGC	MSN	-	pirsf_ERM,pfam_ERM_C_dom,superfamily_Moesin_tail,prints_Ez/rad/moesin_like	ENSG00000147065		0.542	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	-	0	63	0	C	NM_002444		64959699	1	tier1	-	no_errors	ENST00000360270	ensembl	human	known	74_37	missense	41.43	41	29	SNP	1.000	T	T	64959699	C	T	64959699	3	4	56	1	0	0	0	0	1	0	0	0	9923	768	27	1	1728	1	MSN	23	64959699	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	7938330	64959699	90310861	205	13990											
KIF4A	24137	genome.wustl.edu	37	chrX	69615565	69615565	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatggtcagtactgaggaAgccaaacgccatctgaatga	13	9	11	8	1	2	3	1	3	1	0	2	4	2	4	2	2	3	2	2	2	5	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:69615565A>C	ENST00000374403.3	+	21	2359	c.2277A>C	c.(2275-2277)gaA>gaC	p.E759D	RNY4P23_ENST00000364507.1_RNA|KIF4A_ENST00000374388.3_Missense_Mutation_p.E759D	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	759	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GTACTGAGGAAGCCAAACGCC	0.448																																																	0													80	68	72					X																	69615565		2203	4300	6503	SO:0001583	missense	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2277A>C	X.37:g.69615565A>C	ENSP00000363524:p.Glu759Asp		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E759D	ENST00000374403.3	37	c.2277	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	a	14.00	2.404929	0.42613	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.71934	-0.61;-0.57	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000005	T	0.54287	0.1849	L	0.31371	0.925	0.50813	D	0.999896	B	0.22683	0.073	B	0.22386	0.039	T	0.50311	-0.8843	10	0.21540	T	0.41	.	7.1165	0.25418	0.8271:0.0:0.1729:0.0	.	759	O95239	KIF4A_HUMAN	D	759;759;61	ENSP00000363509:E759D;ENSP00000363524:E759D	ENSP00000363509:E759D	E	+	3	2	KIF4A	69532290	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.618000	0.46393	1.968000	0.57251	0.478000	0.44815	GAA	KIF4A	-	NULL	ENSG00000090889		0.448	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	-	0	49	0	A	NM_012310		69615565	1	tier1	-	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	45.35	47	39	SNP	1.000	C	C	69615565	A	C	69615565	3	2	56	1	0	0	0	0	1	0	0	0	8330	69	3	4	2355	4	KIF4A	23	69615565	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	4655866	69615565	85654995	206	13991											
ZMYM3	9203	genome.wustl.edu	37	chrX	70469460	70469460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtcccttgttggcccGgaatttggagaagcaagaat	10	12	11	8	1	1	2	1	0	0	2	2	4	2	3	2	3	1	2	2	3	4	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:70469460G>A	ENST00000353904.2	-	7	1508	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	ZMYM3_ENST00000373984.3_Missense_Mutation_p.R443W|ZMYM3_ENST00000373978.1_Silent_p.S344S|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R441W|ZMYM3_ENST00000373981.1_Missense_Mutation_p.R441W|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.R443W|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R441W|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R443W	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	441					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGTTGGCCCGGAATTTGGAG	0.577																																																	0													143	93	110					X																	70469460		2203	4300	6503	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1321C>T	X.37:g.70469460G>A	ENSP00000343909:p.Arg441Trp		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.R443W	ENST00000353904.2	37	c.1327	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	18.73	3.685770	0.68157	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	T;T;T;T;T;T;T	0.59906	0.83;0.23;0.83;0.83;0.83;0.39;0.39	4.43	4.43	0.53597	TRASH (1);	0.000000	0.56097	D	0.000030	T	0.75034	0.3795	M	0.70595	2.14	0.50813	D	0.999895	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.993;0.999;0.998	T	0.79356	-0.1837	10	0.87932	D	0	-10.6023	16.3668	0.83335	0.0:0.0:1.0:0.0	.	443;441;441;441	A6NL54;Q96E26;Q14202-2;Q14202	.;.;.;ZMYM3_HUMAN	W	441;441;441;443;443;443;441	ENSP00000322845:R441W;ENSP00000363110:R441W;ENSP00000343909:R441W;ENSP00000363096:R443W;ENSP00000363100:R443W;ENSP00000363094:R443W;ENSP00000363093:R441W	ENSP00000322845:R441W	R	-	1	2	ZMYM3	70386185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.235000	0.78143	2.032000	0.59987	0.464000	0.42555	CGG	ZMYM3	-	smart_TRASH_dom	ENSG00000147130		0.577	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0	41	0	G	NM_201599		70469460	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	A	A	70469460	G	A	70469460	3	1	56	1	0	0	0	0	1	0	0	0	17749	1115	39	1	2885	1	ZMYM3	23	70469460	Missense_Mutation	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	853895	70469460	84801100	207	13992											
CYLC1	1538	genome.wustl.edu	37	chrX	83129383	83129383	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atataaacctggggctaagaAgaaaattgatgaatcagatg	18	9	10	4	0	1	5	1	2	0	3	1	5	1	5	1	2	1	1	1	2	8	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:83129383A>C	ENST00000329312.4	+	4	1704	c.1667A>C	c.(1666-1668)aAg>aCg	p.K556T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	556					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGGGCTAAGAAGAAAATTGAT	0.353																																																	0													50	46	48					X																	83129383		2199	4298	6497	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1667A>C	X.37:g.83129383A>C	ENSP00000331556:p.Lys556Thr		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.K556T	ENST00000329312.4	37	c.1667	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	a	9.649	1.141018	0.21205	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.60920	0.15	3.92	1.38	0.22167	.	.	.	.	.	T	0.66327	0.2778	M	0.70275	2.135	0.09310	N	1	D;D	0.67145	0.99;0.996	D;D	0.66497	0.92;0.944	T	0.53258	-0.8464	9	0.48119	T	0.1	-1.1249	2.6394	0.04967	0.6424:0.0:0.1282:0.2294	.	556;556	P35663;F5H4V5	CYLC1_HUMAN;.	T	556	ENSP00000331556:K556T	ENSP00000331556:K556T	K	+	2	0	CYLC1	83016039	0.021000	0.18746	0.002000	0.10522	0.009000	0.06853	0.148000	0.16224	0.156000	0.19299	0.486000	0.48141	AAG	CYLC1	-	NULL	ENSG00000183035		0.353	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	37	0	A	NM_021118		83129383	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.005	C	C	83129383	A	C	83129383	3	2	56	1	0	0	0	0	1	0	0	0	4150	72	3	4	1681	4	CYLC1	23	83129383	Missense_Mutation	SNP	A	TCGA-L5-A4OG-01A-11D-A27G-09	12659923	83129383	72141177	208	13993											
NXF2	728343	genome.wustl.edu	37	chrX	101620155	101620155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatactcacggggctgagtCcttggggtcgaagggaatag	9	9	16	7	2	1	2	1	2	0	0	3	4	2	3	1	5	1	1	1	5	4	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:101620155C>A	ENST00000372750.1	-	20	2090	c.1291G>T	c.(1291-1293)Gac>Tac	p.D431Y	NXF2B_ENST00000372749.1_Missense_Mutation_p.D431Y|NXF2B_ENST00000489531.1_5'UTR|NXF2B_ENST00000457521.2_Missense_Mutation_p.D431Y|NXF2B_ENST00000412230.2_Missense_Mutation_p.D431Y|NXF2B_ENST00000372752.1_Missense_Mutation_p.D343Y			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	431	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						GGGGCTGAGTCCTTGGGGTCG	0.582																																																	0													59	61	60					X																	101620155		957	1961	2918	SO:0001583	missense	0				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1291G>T	X.37:g.101620155C>A	ENSP00000361836:p.Asp431Tyr		Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D431Y	ENST00000372750.1	37	c.1291	CCDS43979.1	X	.	.	.	.	.	.	.	.	.	.	.	12.97	2.097292	0.37048	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	3.67	1.89	0.25635	.	0.178223	0.46145	D	0.000315	T	0.48277	0.1491	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32079	-0.9920	7	0.23891	T	0.37	-15.1258	7.1564	0.25639	0.0:0.7598:0.0:0.2402	.	.	.	.	Y	343;431;431;431;431	ENSP00000361838:D343Y;ENSP00000396447:D431Y;ENSP00000361835:D431Y;ENSP00000361836:D431Y;ENSP00000413087:D431Y	ENSP00000361835:D431Y	D	-	1	0	NXF2B	101506811	1.000000	0.71417	0.001000	0.08648	0.028000	0.11728	2.488000	0.45276	0.382000	0.24878	0.455000	0.32223	GAC	NXF2B	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000185945		0.582	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	HGNC	protein_coding	OTTHUMT00000058979.1	-	0	92	0	C			101620155	-1	tier1	-	no_errors	ENST00000372749	ensembl	human	known	74_37	missense	33.33	42	21	SNP	0.055	A	A	101620155	C	A	101620155	3	1	56	1	0	0	0	0	1	0	0	0	10822	855	30	3	2586	3	NXF2	23	101620155	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	18490772	101620155	53650405	209	13994											
ODZ1	10178	genome.wustl.edu	37	chrX	123779098	123779098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcattgttcttccggaaCgtcacactctggccccttcc	7	12	7	15	2	3	0	1	0	2	0	5	1	5	1	4	2	2	2	4	2	2	4	rs201117886		TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:123779098C>T	ENST00000371130.3	-	10	1834	c.1771G>A	c.(1771-1773)Gtt>Att	p.V591I	TENM1_ENST00000422452.2_Missense_Mutation_p.V591I	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	591	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTTCCGGAACGTCACACTCT	0.532																																																	0													244	210	221					X																	123779098		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1771G>A	X.37:g.123779098C>T	ENSP00000360171:p.Val591Ile		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.V591I	ENST00000371130.3	37	c.1771	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925853	0.52759	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03496	3.91;3.91	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000001	T	0.06096	0.0158	L	0.49455	1.56	0.58432	D	0.999995	D;D;P	0.63046	0.981;0.992;0.627	B;B;B	0.42245	0.381;0.381;0.056	T	0.50448	-0.8827	10	0.27785	T	0.31	.	18.0549	0.89361	0.0:1.0:0.0:0.0	.	590;591;591	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	591	ENSP00000360171:V591I;ENSP00000403954:V591I	ENSP00000360171:V591I	V	-	1	0	ODZ1	123606779	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.244000	0.51399	2.199000	0.70637	0.600000	0.82982	GTT	TENM1	-	NULL	ENSG00000009694		0.532	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	38	0	C	NM_014253		123779098	-1	tier1	rs201117886	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	T	T	123779098	C	T	123779098	3	4	56	1	0	0	0	0	1	0	0	0	10873	536	19	1	6519	1	ODZ1	23	123779098	Missense_Mutation	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	22158943	123779098	31491462	210	13995											
GPC3	2719	genome.wustl.edu	37	chrX	132795821	132795821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctcagggcccttcattttCagctcatggagattgaactg	8	12	11	10	0	4	2	4	1	0	1	4	3	4	2	1	3	2	2	1	3	1	4			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:132795821C>T	ENST00000370818.3	-	6	1795	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	GPC3_ENST00000543339.1_Silent_p.L396L|GPC3_ENST00000394299.2_Silent_p.L473L	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	450					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCTTCATTTTCAGCTCATGGA	0.363			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome																														yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													112	100	104					X																	132795821		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"Proteoglycans / Cell Surface : Glypicans"	4451	protein-coding gene	gene with protein product	"glypican proteoglycan 3"	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1350G>A	X.37:g.132795821C>T			C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	pfam_Glypican	p.L473	ENST00000370818.3	37	c.1419	CCDS14638.1	X																																																																																			GPC3	-	pfam_Glypican	ENSG00000147257		0.363	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	-	0	88	0	C	NM_004484		132795821	-1	tier1	-	no_errors	ENST00000394299	ensembl	human	known	74_37	silent	18.56	79	18	SNP	1.000	T	T	132795821	C	T	132795821	2	4	56	1	0	0	0	0	0	0	0	1	6625	813	29	3		3	GPC3	23	132795821	Silent	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	9016723	132795821	22474739	211	13996											
GPR101	83550	genome.wustl.edu	37	chrX	136112589	136112589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaggactgctaaaaagcaGtagggccccagggatagcac	13	4	13	11	0	0	0	0	0	0	0	0	2	0	2	3	3	3	4	3	3	5	3			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:136112589G>A	ENST00000298110.1	-	1	1244	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	415						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTAAAAAGCAGTAGGGCCCCA	0.522																																																	0													85	78	80					X																	136112589		2203	4300	6503	SO:0001819	synonymous_variant	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1245C>T	X.37:g.136112589G>A			Q5JSM8|Q8NG93	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Y415	ENST00000298110.1	37	c.1245	CCDS14662.1	X																																																																																			GPR101	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000165370		0.522	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	-	0	60	0	G			136112589	-1	tier1	-	no_errors	ENST00000298110	ensembl	human	known	74_37	silent	46.27	36	31	SNP	1.000	A	A	136112589	G	A	136112589	2	1	56	1	0	0	0	0	0	0	0	1	6648	1024	36	3		3	GPR101	23	136112589	Silent	SNP	G	TCGA-L5-A4OG-01A-11D-A27G-09	3316768	136112589	19157971	212	13997											
IDH3G	3421	genome.wustl.edu	37	chrX	153052255	153052255	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgccaccggcactcaCtgtttcaaacaccgcgtaca	10	7	8	16	3	2	0	2	0	0	0	2	0	2	0	3	2	3	4	3	2	2	2			TCGA-L5-A4OG-01A-11D-A27G-09	TCGA-L5-A4OG-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0ed3ca80-a102-4b10-8db6-6731c3ed2055	8a7c92d1-444c-481f-b02f-81285ae3002f	g.chrX:153052255C>G	ENST00000217901.5	-	10	1121		c.e10+1		IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000370093.1_Splice_Site|IDH3G_ENST00000370092.3_Splice_Site|IDH3G_ENST00000427365.2_Splice_Site	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma						carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGCACTCACTGTTTCAAAC	0.582																																																	0													49	51	50					X																	153052255		2203	4298	6501	SO:0001630	splice_region_variant	0				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.924+1G>C	X.37:g.153052255C>G			E9PDD5|Q9BUU5	Splice_Site	SNP	-	e10+1	ENST00000217901.5	37	c.924+1	CCDS14730.1	X	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021682	0.35701	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000454076;ENST00000370093;ENST00000427365;ENST00000393771	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4886	0.87696	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IDH3G	152705449	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	5.586000	0.67503	2.400000	0.81607	0.513000	0.50165	.	IDH3G	-	-	ENSG00000067829		0.582	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	-	0	80	0	C		Intron	153052255	-1	tier1	-	no_errors	ENST00000217901	ensembl	human	known	74_37	splice_site	8.99	81	8	SNP	1.000	G	G	153052255	C	G	153052255	5	3	56	1	0	0	0	0	0	0	1	0	7525	579	20	5	335	5	IDH3G	23	153052255	Splice_Site	SNP	C	TCGA-L5-A4OG-01A-11D-A27G-09	16939666	153052255	2218305	213	13998											
SRM	6723	genome.wustl.edu	37	chr1	11116694	11116694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtcagtgatgatcacgtCgaaggcatcctgattctgtt	9	12	12	8	2	3	3	2	3	1	0	5	5	4	4	1	2	0	2	1	2	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:11116694C>T	ENST00000376957.2	-	4	582	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	168	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ATGATCACGTCGAAGGCATCC	0.567																																																	0													127	108	114					1																	11116694		2203	4300	6503	SO:0001583	missense	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.502G>A	1.37:g.11116694C>T	ENSP00000366156:p.Asp168Asn		B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.D168N	ENST00000376957.2	37	c.502	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691501	0.88735	.	.	ENSG00000116649	ENST00000376957	D	0.93307	-3.2	5.35	4.43	0.53597	.	0.096320	0.64402	D	0.000002	D	0.97309	0.9120	H	0.96691	3.865	0.80722	D	1	D	0.71674	0.998	P	0.59643	0.861	D	0.98089	1.0408	10	0.87932	D	0	.	13.3119	0.60384	0.0:0.9231:0.0:0.0768	.	168	P19623	SPEE_HUMAN	N	168	ENSP00000366156:D168N	ENSP00000366156:D168N	D	-	1	0	SRM	11039281	1.000000	0.71417	0.017000	0.16124	0.813000	0.45954	7.666000	0.83877	1.378000	0.46305	0.561000	0.74099	GAC	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.567	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	-	0	68	0	C	NM_003132		11116694	-1	tier1	-	no_errors	ENST00000376957	ensembl	human	known	74_37	missense	50.82	30	31	SNP	0.957	T	T	11116694	C	T	11116694	3	4	57	1	0	0	0	0	1	0	0	0	15198	884	31	1	426	1	SRM	1	11116694	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09		11116694	238133927	1	13999											
SRM	6723	genome.wustl.edu	37	chr1	11116718	11116718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgattctgtttcaTgaactcaaaaccgtcaccca	11	11	6	13	1	4	2	3	2	1	0	5	2	5	2	3	1	2	2	3	1	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:11116718T>C	ENST00000376957.2	-	4	558	c.478A>G	c.(478-480)Atg>Gtg	p.M160V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	160	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	TTCTGTTTCATGAACTCAAAA	0.537																																																	0													146	123	131					1																	11116718		2203	4300	6503	SO:0001583	missense	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.478A>G	1.37:g.11116718T>C	ENSP00000366156:p.Met160Val		B1AKP9|Q15511	Missense_Mutation	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.M160V	ENST00000376957.2	37	c.478	CCDS125.1	1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813435	0.50527	.	.	ENSG00000116649	ENST00000376957	T	0.73363	-0.74	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	N	0.05280	-0.08	0.80722	D	1	B	0.31655	0.334	B	0.30251	0.113	T	0.57568	-0.7789	10	0.33940	T	0.23	.	14.8105	0.69992	0.0:0.0:0.0:1.0	.	160	P19623	SPEE_HUMAN	V	160	ENSP00000366156:M160V	ENSP00000366156:M160V	M	-	1	0	SRM	11039305	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.883000	0.87264	2.151000	0.67156	0.459000	0.35465	ATG	SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.537	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1	-	0	86	0	T	NM_003132		11116718	-1	tier1	-	no_errors	ENST00000376957	ensembl	human	known	74_37	missense	51.47	33	35	SNP	1.000	C	C	11116718	T	C	11116718	3	2	57	1	0	0	0	0	1	0	0	0	15198	1464	51	4	450	4	SRM	1	11116718	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	24	11116718	238133903	2	14000											
MTOR	2475	genome.wustl.edu	37	chr1	11300513	11300513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgtgcataaggaccaGggacagcattttcagtagcc	10	10	13	8	0	1	0	1	0	0	0	1	2	1	2	2	3	3	4	2	3	2	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:11300513G>T	ENST00000361445.4	-	11	1709	c.1633C>A	c.(1633-1635)Ctg>Atg	p.L545M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	545	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ATAAGGACCAGGGACAGCATT	0.602																																																	0													205	174	184					1																	11300513		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1633C>A	1.37:g.11300513G>T	ENSP00000354558:p.Leu545Met		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L545M	ENST00000361445.4	37	c.1633	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832534	0.32421	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.30981	1.51	5.41	3.47	0.39725	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.23370	0.0565	L	0.49571	1.57	0.80722	D	1	P	0.45902	0.868	B	0.39660	0.306	T	0.03034	-1.1080	10	0.28530	T	0.3	-3.7566	6.128	0.20189	0.1685:0.0:0.6828:0.1487	.	545	P42345	MTOR_HUMAN	M	545	ENSP00000354558:L545M	ENSP00000354558:L545M	L	-	1	2	MTOR	11223100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.297000	0.43593	0.587000	0.29643	0.650000	0.86243	CTG	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.602	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	113	0	G	NM_004958		11300513	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	T	T	11300513	G	T	11300513	3	4	57	1	0	0	0	0	1	0	0	0	9992	991	35	3	6208	3	MTOR	1	11300513	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	183795	11300513	237950108	3	14001											
VPS13D	55187	genome.wustl.edu	37	chr1	12382683	12382683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcccagagcaagctaatGctgcagtgccagactcagtg	11	7	10	13	0	1	2	1	0	0	2	2	2	2	2	3	0	5	4	3	0	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:12382683G>T	ENST00000358136.3	+	34	7925	c.7795G>T	c.(7795-7797)Gct>Tct	p.A2599S	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2599S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAAGCTAATGCTGCAGTGCC	0.478																																																	0													132	123	126					1																	12382683		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7795G>T	1.37:g.12382683G>T	ENSP00000350854:p.Ala2599Ser			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A2599S	ENST00000358136.3	37	c.7795	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.330|8.330	0.826233|0.826233	0.16749|0.16749	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.53206|.	0.63;0.64|.	5.86|5.86	1.94|1.94	0.25998|0.25998	.|.	0.644293|.	0.16270|.	N|.	0.221811|.	T|T	0.32194|0.32194	0.0821|0.0821	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B|.	0.14012|.	0.009;0.004;0.003|.	B;B;B|.	0.15052|.	0.002;0.012;0.005|.	T|T	0.22695|0.22695	-1.0209|-1.0209	10|5	0.10377|.	T|.	0.69|.	.|.	8.769|8.769	0.34719|0.34719	0.1612:0.1151:0.7237:0.0|0.1612:0.1151:0.7237:0.0	.|.	506;2599;2599|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	S|I	2599|1421	ENSP00000348666:A2599S;ENSP00000350854:A2599S|.	ENSP00000348666:A2599S|.	A|M	+|+	1|3	0|0	VPS13D|VPS13D	12305270|12305270	0.992000|0.992000	0.36948|0.36948	0.013000|0.013000	0.15412|0.15412	0.065000|0.065000	0.16274|0.16274	2.452000|2.452000	0.44961|0.44961	0.114000|0.114000	0.18032|0.18032	0.655000|0.655000	0.94253|0.94253	GCT|ATG	VPS13D	-	NULL	ENSG00000048707		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2		0	43	0	G	NM_015378		12382683	1			no_errors	ENST00000358136	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.006	T	T	12382683	G	T	12382683	3	4	57	1	0	0	0	0	1	0	0	0	17241	1319	46	3	7925	3	VPS13D	1	12382683	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1082170	12382683	236867938	4	14002											
PADI2	11240	genome.wustl.edu	37	chr1	17409070	17409070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcacagggaagtcctttagGtttccatctcggggagagtc	8	12	12	9	1	2	1	1	0	1	1	6	3	4	2	2	4	0	1	2	4	2	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:17409070G>T	ENST00000375486.4	-	10	1191	c.1128C>A	c.(1126-1128)aaC>aaA	p.N376K	PADI2_ENST00000375481.1_Missense_Mutation_p.N376K|PADI2_ENST00000444885.2_Missense_Mutation_p.N260K|PADI2_ENST00000466151.1_5'UTR	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	376					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGTCCTTTAGGTTTCCATCTC	0.542																																																	0													80	77	78					1																	17409070		2203	4300	6503	SO:0001583	missense	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.1128C>A	1.37:g.17409070G>T	ENSP00000364635:p.Asn376Lys		Q96DA7|Q9UPN2	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.N376K	ENST00000375486.4	37	c.1128	CCDS177.1	1	.	.	.	.	.	.	.	.	.	.	G	2.888	-0.230373	0.05983	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.21191	2.02;2.02;2.02	4.73	1.75	0.24633	Protein-arginine deiminase, C-terminal (1);	0.471897	0.24470	N	0.038257	T	0.07098	0.0180	N	0.01705	-0.755	0.32007	N	0.602612	B;B	0.22683	0.073;0.0	B;B	0.25987	0.065;0.001	T	0.19031	-1.0318	10	0.27785	T	0.31	-27.02	6.199	0.20565	0.176:0.413:0.411:0.0	.	260;376	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	376;260;376	ENSP00000364635:N376K;ENSP00000405894:N260K;ENSP00000364630:N376K	ENSP00000364630:N376K	N	-	3	2	PADI2	17281657	0.000000	0.05858	0.974000	0.42286	0.084000	0.17831	-0.881000	0.04179	0.292000	0.22492	-0.145000	0.13849	AAC	PADI2	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000117115		0.542	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	HGNC	protein_coding	OTTHUMT00000006624.1		0	20	0	G			17409070	-1			no_errors	ENST00000375486	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.855	T	T	17409070	G	T	17409070	3	4	57	1	0	0	0	0	1	0	0	0	11417	1252	44	3	897	3	PADI2	1	17409070	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5026387	17409070	231841551	5	14003											
KIAA0090	23065	genome.wustl.edu	37	chr1	19561711	19561711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggcacaccacttctgccaGggactcctcacggctccaca	9	7	8	17	1	2	0	1	0	1	0	4	1	4	1	4	3	1	2	4	3	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:19561711G>T	ENST00000477853.1	-	13	1387	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	EMC1_ENST00000375199.3_Missense_Mutation_p.L448M|EMC1_ENST00000375208.3_Missense_Mutation_p.L427M|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	449						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											ACTTCTGCCAGGGACTCCTCA	0.562																																																	0													85	75	79					1																	19561711		2203	4300	6503	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1345C>A	1.37:g.19561711G>T	ENSP00000420608:p.Leu449Met		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam	p.L449M	ENST00000477853.1	37	c.1345	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368331|3.368331	0.61513|0.61513	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208|ENST00000375197	T;T;T|.	0.61392|.	0.11;0.12;0.12|.	5.91|5.91	0.966|0.966	0.19667|0.19667	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68100|0.68100	0.2964|0.2964	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	0.999;1.0;0.999;0.998|.	T|T	0.63457|0.63457	-0.6633|-0.6633	10|5	0.87932|.	D|.	0|.	.|.	8.9611|8.9611	0.35847|0.35847	0.4339:0.0:0.5661:0.0|0.4339:0.0:0.5661:0.0	.|.	427;448;448;449|.	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766|.	.;.;.;K0090_HUMAN|.	M|H	449;448;427|182	ENSP00000420608:L449M;ENSP00000364345:L448M;ENSP00000364354:L427M|.	ENSP00000364345:L448M|.	L|P	-|-	1|2	2|0	KIAA0090|KIAA0090	19434298|19434298	0.059000|0.059000	0.20769|0.20769	0.474000|0.474000	0.27266|0.27266	0.881000|0.881000	0.50899|0.50899	0.361000|0.361000	0.20267|0.20267	-0.062000|-0.062000	0.13088|0.13088	-0.137000|-0.137000	0.14449|0.14449	CTG|CCT	EMC1	-	NULL	ENSG00000127463		0.562	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	-	0	40	0	G	NM_015047		19561711	-1	tier1	-	no_errors	ENST00000477853	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.646	T	T	19561711	G	T	19561711	3	4	57	1	0	0	0	0	1	0	0	0	8180	991	35	3	1680	3	KIAA0090	1	19561711	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2152641	19561711	229688910	6	14004											
HSPG2	3339	genome.wustl.edu	37	chr1	22175189	22175189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ataccaggtgatggtgtgggGagcctggctggcaaccaggc	8	7	17	9	0	0	1	0	1	0	0	0	2	0	2	3	7	3	2	3	7	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:22175189G>A	ENST00000374695.3	-	59	7763	c.7684C>T	c.(7684-7686)Ccc>Tcc	p.P2562S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2562	Ig-like C2-type 11.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ATGGTGTGGGGAGCCTGGCTG	0.657																																																	0													66	68	67					1																	22175189		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7684C>T	1.37:g.22175189G>A	ENSP00000363827:p.Pro2562Ser		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.P2562S	ENST00000374695.3	37	c.7684	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166357	0.57476	.	.	ENSG00000142798	ENST00000374695	T	0.66638	-0.22	4.88	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38217	N	0.001766	T	0.70343	0.3213	N	0.25647	0.755	0.36903	D	0.890504	P;D	0.63046	0.571;0.992	B;D	0.64042	0.403;0.921	T	0.76664	-0.2876	10	0.52906	T	0.07	.	15.5359	0.76001	0.0:0.0:1.0:0.0	.	502;2562	Q59EG0;P98160	.;PGBM_HUMAN	S	2562	ENSP00000363827:P2562S	ENSP00000363827:P2562S	P	-	1	0	HSPG2	22047776	0.759000	0.28416	1.000000	0.80357	0.977000	0.68977	3.732000	0.55021	2.245000	0.73994	0.561000	0.74099	CCC	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000142798		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	60	0	G	NM_005529		22175189	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	50.00	18	18	SNP	0.998	A	A	22175189	G	A	22175189	3	1	57	1	0	0	0	0	1	0	0	0	7457	1174	41	3	5647	3	HSPG2	1	22175189	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2613478	22175189	227075432	7	14005											
ASAP3	55616	genome.wustl.edu	37	chr1	23756371	23756371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgcaaaagttgcacaGaacttgctgggagactccca	12	9	10	10	0	1	2	0	0	1	2	2	3	2	2	1	1	4	4	1	1	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:23756371G>T	ENST00000336689.3	-	25	2734	c.2690C>A	c.(2689-2691)tCt>tAt	p.S897Y	ASAP3_ENST00000495646.1_Missense_Mutation_p.S401Y|ASAP3_ENST00000437606.2_Missense_Mutation_p.S888Y	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	897					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AAGTTGCACAGAACTTGCTGG	0.512																																																	0													81	69	73					1																	23756371		2203	4300	6503	SO:0001583	missense	0			AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	14987	protein-coding gene	gene with protein product	"centaurin, beta 6"		"development and differentiation enhancing factor-like 1"	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2690C>A	1.37:g.23756371G>T	ENSP00000338769:p.Ser897Tyr		B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.S897Y	ENST00000336689.3	37	c.2690	CCDS235.1	1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188233	0.57909	.	.	ENSG00000088280	ENST00000495646;ENST00000336689;ENST00000465372;ENST00000437606	T;T;T	0.58210	1.57;0.35;0.35	4.63	4.63	0.57726	.	0.340804	0.25639	U	0.029287	T	0.33177	0.0854	N	0.19112	0.55	0.27886	N	0.939513	B;B;B	0.20550	0.046;0.027;0.027	B;B;B	0.21360	0.034;0.015;0.015	T	0.11227	-1.0596	10	0.17832	T	0.49	.	8.9074	0.35532	0.1004:0.0:0.8996:0.0	.	888;787;897	Q8TDY4-3;B4DRP2;Q8TDY4	.;.;ASAP3_HUMAN	Y	401;897;197;888	ENSP00000436150:S401Y;ENSP00000338769:S897Y;ENSP00000408826:S888Y	ENSP00000338769:S897Y	S	-	2	0	ASAP3	23628958	1.000000	0.71417	0.941000	0.38009	0.824000	0.46624	1.738000	0.38207	2.580000	0.87095	0.561000	0.74099	TCT	ASAP3	-	NULL	ENSG00000088280		0.512	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP3	HGNC	protein_coding	OTTHUMT00000008916.2		0	27	0	G	NM_017707		23756371	-1			no_errors	ENST00000336689	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.996	T	T	23756371	G	T	23756371	3	4	57	1	0	0	0	0	1	0	0	0	1013	942	33	3	25	3	ASAP3	1	23756371	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1581182	23756371	225494250	8	14006											
E2F2	1870	genome.wustl.edu	37	chr1	23842891	23842891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggctgggcagagtcaggGctggggcagagggtggaggt	6	6	23	6	0	1	2	1	0	0	2	1	3	1	3	0	8	0	4	0	8	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:23842891G>T	ENST00000361729.2	-	6	1407	c.981C>A	c.(979-981)agC>agA	p.S327R	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	327					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CAGAGTCAGGGCTGGGGCAGA	0.657																																																	0													59	50	53					1																	23842891		2203	4300	6503	SO:0001583	missense	0			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.981C>A	1.37:g.23842891G>T	ENSP00000355249:p.Ser327Arg		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	pfam_E2F_TDP	p.S327R	ENST00000361729.2	37	c.981	CCDS236.1	1	.	.	.	.	.	.	.	.	.	.	G	7.108	0.575512	0.13623	.	.	ENSG00000007968	ENST00000361729	D	0.85556	-2.0	4.69	1.79	0.24919	.	0.971478	0.08431	U	0.946882	T	0.74390	0.3710	N	0.22421	0.69	0.09310	N	1	B	0.29716	0.255	B	0.33042	0.157	T	0.58278	-0.7664	10	0.16896	T	0.51	-2.3647	7.1121	0.25396	0.2877:0.0:0.7123:0.0	.	327	Q14209	E2F2_HUMAN	R	327	ENSP00000355249:S327R	ENSP00000355249:S327R	S	-	3	2	E2F2	23715478	0.074000	0.21230	0.085000	0.20634	0.702000	0.40608	1.265000	0.33027	0.215000	0.20761	0.491000	0.48974	AGC	E2F2	-	NULL	ENSG00000007968		0.657	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	-	0	55	0	G	NM_004091		23842891	-1	tier1	-	no_errors	ENST00000361729	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	T	T	23842891	G	T	23842891	3	4	57	1	0	0	0	0	1	0	0	0	4881	1194	42	3	340	3	E2F2	1	23842891	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	86520	23842891	225407730	9	14007											
CSF3R	1441	genome.wustl.edu	37	chr1	36934836	36934836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcacgatgatctcataGagctgaaagggcctgatgtt	11	10	13	7	1	2	4	2	3	1	1	3	6	2	5	1	2	1	2	1	2	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:36934836G>T	ENST00000373106.1	-	12	2044	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L	CSF3R_ENST00000361632.4_Silent_p.L499L|CSF3R_ENST00000338937.5_Silent_p.L499L|CSF3R_ENST00000331941.5_Silent_p.L499L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000440588.2_Silent_p.L499L|CSF3R_ENST00000373104.1_Silent_p.L499L|CSF3R_ENST00000418048.2_Silent_p.L499L|CSF3R_ENST00000373103.1_Silent_p.L499L	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	499	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGATCTCATAGAGCTGAAAGG	0.507																																																	0													127	120	122					1																	36934836		2203	4300	6503	SO:0001819	synonymous_variant	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1497C>A	1.37:g.36934836G>T				Silent	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L499	ENST00000373106.1	37	c.1497	CCDS413.1	1																																																																																			CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119535		0.507	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0	51	0	G	NM_156039		36934836	-1	tier1	-	no_errors	ENST00000373103	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.996	T	T	36934836	G	T	36934836	2	4	57	1	0	0	0	0	0	0	0	1	3946	929	33	3		3	CSF3R	1	36934836	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13091945	36934836	212315785	10	14008											
HIVEP3	59269	genome.wustl.edu	37	chr1	42049271	42049271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgacctgctgctctgCactctcggagcgagagaaat	8	8	14	11	2	2	2	0	1	2	1	3	5	2	3	1	3	4	4	1	3	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:42049271C>A	ENST00000372583.1	-	4	2083	c.1198G>T	c.(1198-1200)Gca>Tca	p.A400S	HIVEP3_ENST00000372584.1_Missense_Mutation_p.A400S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A400S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A400S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	400	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGCTGCTCTGCACTCTCGGAG	0.572																																																	0													111	100	104					1																	42049271		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1198G>T	1.37:g.42049271C>A	ENSP00000361664:p.Ala400Ser		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A400S	ENST00000372583.1	37	c.1198	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.969712	0.34754	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.15	4.23	0.50019	.	0.259019	0.27600	N	0.018647	T	0.44371	0.1290	M	0.76727	2.345	0.34916	D	0.747984	B;B	0.30281	0.275;0.18	B;B	0.26202	0.067;0.031	T	0.59963	-0.7355	10	0.54805	T	0.06	0.3241	14.5397	0.67984	0.1558:0.8442:0.0:0.0	.	400;400	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	400	ENSP00000361665:A400S;ENSP00000361664:A400S;ENSP00000247584:A400S;ENSP00000410828:A400S	ENSP00000247584:A400S	A	-	1	0	HIVEP3	41821858	1.000000	0.71417	0.884000	0.34674	0.014000	0.08584	4.615000	0.61190	1.370000	0.46153	0.655000	0.94253	GCA	HIVEP3	-	NULL	ENSG00000127124		0.572	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	64	0	C	NM_024503		42049271	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.994	A	A	42049271	C	A	42049271	3	1	57	1	0	0	0	0	1	0	0	0	7215	710	25	3	6046	3	HIVEP3	1	42049271	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	5114435	42049271	207201350	11	14009											
PTPRF	5792	genome.wustl.edu	37	chr1	44044539	44044539	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtacgagtgtgtggcGaccaactcggcaggcacacg	10	5	15	11	4	0	0	0	0	0	0	1	2	0	0	1	4	2	4	1	4	3	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:44044539G>T	ENST00000359947.4	+	7	967	c.627G>T	c.(625-627)gcG>gcT	p.A209A	PTPRF_ENST00000438120.1_Silent_p.A209A|PTPRF_ENST00000372413.3_Silent_p.A209A|PTPRF_ENST00000372414.3_Silent_p.A209A	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	209	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGTGTGGCGACCAACTCGG	0.602																																																	0													217	143	168					1																	44044539		2203	4300	6503	SO:0001819	synonymous_variant	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.627G>T	1.37:g.44044539G>T			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.A209	ENST00000359947.4	37	c.627	CCDS489.2	1																																																																																			PTPRF	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142949		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0	74	0	G			44044539	1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.671	T	T	44044539	G	T	44044539	2	4	57	1	0	0	0	0	0	0	0	1	12846	1045	37	2		2	PTPRF	1	44044539	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1995268	44044539	205206082	12	14010											
MAST2	23139	genome.wustl.edu	37	chr1	46497074	46497074	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacagctatggagaccCgaggccgtgggacctcacag	9	5	14	13	2	1	1	1	0	0	1	1	4	1	2	4	4	2	1	4	4	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:46497074C>T	ENST00000361297.2	+	24	3287	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.R932*	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TATGGAGACCCGAGGCCGTGG	0.657																																																	0													32	36	35					1																	46497074		2033	4173	6206	SO:0001587	stop_gained	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3004C>T	1.37:g.46497074C>T	ENSP00000354671:p.Arg1002*			Nonsense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R1002*	ENST00000361297.2	37	c.3004	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.608233	0.98387	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	.	.	.	4.85	2.92	0.33932	.	0.359767	0.28476	N	0.015206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9648	13.6103	0.62074	0.4084:0.5916:0.0:0.0	.	.	.	.	X	1002;932	.	ENSP00000354671:R1002X	R	+	1	2	MAST2	46269661	0.017000	0.18338	0.550000	0.28217	0.394000	0.30568	0.273000	0.18662	0.293000	0.22520	-0.808000	0.03180	CGA	MAST2	-	NULL	ENSG00000086015		0.657	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	54	0	C	NM_015112		46497074	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	nonsense	14.81	22	4	SNP	0.295	T	T	46497074	C	T	46497074	4	4	57	1	0	0	0	0	0	1	0	0	9363	644	23	1	3098	1	MAST2	1	46497074	Nonsense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	2452535	46497074	202753547	13	14011											
LRRC7	57554	genome.wustl.edu	37	chr1	70226076	70226076	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaattgaagaactacccaaGgtaacttttgacaacctaaa	18	9	5	9	0	0	3	0	2	0	1	0	3	0	3	2	1	4	1	2	1	9	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:70226076G>T	ENST00000035383.5	+	1	219	c.189G>T	c.(187-189)aaG>aaT	p.K63N	LRRC7_ENST00000310961.5_Splice_Site_p.K68N|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Splice_Site_p.K101N	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	63						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AACTACCCAAGGTAACTTTTG	0.358																																																	0													61	63	62					1																	70226076		2203	4299	6502	SO:0001630	splice_region_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.189+1G>T	1.37:g.70226076G>T			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.K63N	ENST00000035383.5	37	c.189	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557524	0.65425	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.38560	1.88;1.13;1.83	5.75	5.75	0.90469	.	0.048575	0.85682	D	0.000000	T	0.37705	0.1013	N	0.16478	0.41	0.80722	D	1	B;P	0.51933	0.435;0.949	B;P	0.58620	0.199;0.842	T	0.37174	-0.9717	10	0.62326	D	0.03	.	18.5003	0.90878	0.0:0.0:1.0:0.0	.	63;101	Q96NW7;B1AKT2	LRRC7_HUMAN;.	N	68;101;63;63	ENSP00000309245:K68N;ENSP00000359997:K101N;ENSP00000035383:K63N	ENSP00000035383:K63N	K	+	3	2	LRRC7	69998664	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.869000	0.99810	2.721000	0.93114	0.585000	0.79938	AAG	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.358	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	25	0	G	NM_020794	Missense_Mutation	70226076	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	70226076	G	T	70226076	5	4	57	1	0	0	0	0	0	0	1	0	9055	1014	35	3	191	3	LRRC7	1	70226076	Splice_Site	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	23729002	70226076	179024545	14	14012											
ZRANB2	9406	genome.wustl.edu	37	chr1	71537931	71537931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtattttttctttttaCgtccaaactagagaaaaaca	13	16	4	8	1	2	1	0	0	2	1	3	2	3	1	1	0	3	1	1	0	6	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:71537931C>T	ENST00000370920.3	-	6	687	c.386G>A	c.(385-387)cGt>cAt	p.R129H	ZRANB2_ENST00000254821.6_Missense_Mutation_p.R129H	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	129					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TTTCTTTTTACGTCCAAACTA	0.303																																																	0													46	47	46					1																	71537931		2202	4296	6498	SO:0001583	missense	0			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.386G>A	1.37:g.71537931C>T	ENSP00000359958:p.Arg129His		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2	p.R129H	ENST00000370920.3	37	c.386	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861215	0.71949	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.71222	-0.55;-0.46	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.76292	0.3967	M	0.80982	2.52	0.80722	D	1	D;D	0.56287	0.975;0.973	B;P	0.50082	0.375;0.63	T	0.80705	-0.1263	10	0.87932	D	0	.	19.5324	0.95234	0.0:1.0:0.0:0.0	.	129;129	O95218;O95218-2	ZRAB2_HUMAN;.	H	129	ENSP00000359958:R129H;ENSP00000254821:R129H	ENSP00000254821:R129H	R	-	2	0	ZRANB2	71310519	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.340000	0.65958	2.619000	0.88677	0.460000	0.39030	CGT	ZRANB2	-	pirsf_UCP037956_Znf_RanB2	ENSG00000132485		0.303	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1		0	37	0	C	NM_203350		71537931	-1			no_errors	ENST00000370920	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	71537931	C	T	71537931	3	4	57	1	0	0	0	0	1	0	0	0	18271	536	19	1	664	1	ZRANB2	1	71537931	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1311855	71537931	177712690	15	14013											
CLCA2	9635	genome.wustl.edu	37	chr1	86913341	86913341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccattttcctcatcctGtgatgatttatgccaatgtg	7	16	7	11	0	1	2	1	2	0	0	4	2	4	2	5	0	1	0	5	0	2	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:86913341G>T	ENST00000370565.4	+	11	2026	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	622					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TCCTCATCCTGTGATGATTTA	0.507																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													143	135	138					1																	86913341		2203	4300	6503	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1864G>T	1.37:g.86913341G>T	ENSP00000359596:p.Val622Leu		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.V622L	ENST00000370565.4	37	c.1864	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	G	6.764	0.509757	0.12883	.	.	ENSG00000137975	ENST00000370565	T	0.30714	1.52	5.93	-0.219	0.13135	Domain of unknown function DUF1973 (1);	0.116757	0.52532	D	0.000070	T	0.04907	0.0132	L	0.28274	0.84	0.21604	N	0.999622	B	0.13594	0.008	B	0.14578	0.011	T	0.42582	-0.9443	10	0.12766	T	0.61	-0.9499	5.9342	0.19156	0.4545:0.0:0.4224:0.1232	.	622	Q9UQC9	CLCA2_HUMAN	L	622	ENSP00000359596:V622L	ENSP00000359596:V622L	V	+	1	0	CLCA2	86685929	0.305000	0.24481	0.061000	0.19648	0.062000	0.15995	0.549000	0.23329	-0.060000	0.13132	0.655000	0.94253	GTG	CLCA2	-	pfam_DUF1973,tigrfam_CaCC_prot	ENSG00000137975		0.507	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	-	0	77	0	G	NM_006536		86913341	1	tier1	-	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.024	T	T	86913341	G	T	86913341	3	4	57	1	0	0	0	0	1	0	0	0	3465	1377	48	3	1906	3	CLCA2	1	86913341	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	15375410	86913341	162337280	16	14014											
EPHX4	253152	genome.wustl.edu	37	chr1	92498098	92498098	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactatgttgctgctggaGaaagaggcaaaccacttatg	12	11	10	8	0	1	2	1	0	0	2	1	3	1	2	1	2	3	4	1	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:92498098G>T	ENST00000370383.4	+	2	366	c.268G>T	c.(268-270)Gaa>Taa	p.E90*		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	90						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGCTGCTGGAGAAAGAGGCAA	0.363																																					GBM(140;473 1857 5172 22066 49719)												0													210	198	202					1																	92498098		2203	4300	6503	SO:0001587	stop_gained	0			AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"Abhydrolase domain containing"	23758	protein-coding gene	gene with protein product			"abhydrolase domain containing 7"	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.268G>T	1.37:g.92498098G>T	ENSP00000359410:p.Glu90*		Q8NCC6	Nonsense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.E90*	ENST00000370383.4	37	c.268	CCDS736.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.431917	0.98279	.	.	ENSG00000172031	ENST00000370383	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.8034	0.96518	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000359410:E90X	E	+	1	0	EPHX4	92270686	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.702000	0.91338	2.670000	0.90874	0.563000	0.77884	GAA	EPHX4	-	NULL	ENSG00000172031		0.363	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX4	HGNC	protein_coding	OTTHUMT00000027985.1	-	0	63	0	G	NM_173567		92498098	1	tier1	-	no_errors	ENST00000370383	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	1.000	T	T	92498098	G	T	92498098	4	4	57	1	0	0	0	0	0	1	0	0	5198	943	33	3	274	3	EPHX4	1	92498098	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5584757	92498098	156752523	17	14015											
CELSR2	1952	genome.wustl.edu	37	chr1	109808369	109808369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcaggagaaccactacCggcccccaggcagccccacc	9	5	8	19	1	1	1	1	0	1	1	2	2	1	1	7	3	3	1	7	3	2	2	rs147176480		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:109808369C>T	ENST00000271332.3	+	14	5801	c.5740C>T	c.(5740-5742)Cgg>Tgg	p.R1914W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1914	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.R1914R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAACCACTACCGGCCCCCAGG	0.612																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - coding silent(1)	endometrium(1)						C	TRP/ARG	0,4406		0,0,2203	42	46	45		5740	4.6	1	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1914/2924	109808369	1,13005	2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5740C>T	1.37:g.109808369C>T	ENSP00000271332:p.Arg1914Trp		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R1914W	ENST00000271332.3	37	c.5740	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716308	0.89205	0.0	1.16E-4	ENSG00000143126	ENST00000271332	T	0.71579	-0.58	4.6	4.6	0.57074	TNFR/CD27/30/40/95 cysteine-rich region (1);	.	.	.	.	T	0.77205	0.4096	M	0.86178	2.8	0.45366	D	0.99835	D	0.76494	0.999	P	0.56216	0.794	T	0.81805	-0.0764	9	0.87932	D	0	.	12.3341	0.55056	0.169:0.831:0.0:0.0	.	1914	Q9HCU4	CELR2_HUMAN	W	1914	ENSP00000271332:R1914W	ENSP00000271332:R1914W	R	+	1	2	CELSR2	109609892	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	1.952000	0.40343	2.387000	0.81309	0.462000	0.41574	CGG	CELSR2	-	NULL	ENSG00000143126		0.612	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	39	0	C	NM_001408		109808369	1			no_errors	ENST00000271332	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.999	T	T	109808369	C	T	109808369	3	4	57	1	0	0	0	0	1	0	0	0	3229	643	23	1	5794	1	CELSR2	1	109808369	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	17310271	109808369	139442252	18	14016											
KCND3	3752	genome.wustl.edu	37	chr1	112524365	112524365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgatgatggccatggtGagggagaagagaagaaagcc	16	5	16	4	0	0	7	0	3	0	4	0	9	0	7	2	3	1	0	2	3	4	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:112524365G>T	ENST00000315987.2	-	2	1463	c.984C>A	c.(982-984)ctC>ctA	p.L328L	KCND3_ENST00000302127.4_Silent_p.L328L|KCND3_ENST00000369697.1_Silent_p.L328L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	328					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TGGCCATGGTGAGGGAGAAGA	0.547																																																	0													107	103	104					1																	112524365		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.984C>A	1.37:g.112524365G>T			O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.L328	ENST00000315987.2	37	c.984	CCDS843.1	1																																																																																			KCND3	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv	ENSG00000171385		0.547	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1		0	82	0	G	NM_172198		112524365	-1			no_errors	ENST00000315987	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T	T	112524365	G	T	112524365	2	4	57	1	0	0	0	0	0	0	0	1	8047	1277	45	3		3	KCND3	1	112524365	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2715996	112524365	136726256	19	14017											
DENND2C	163259	genome.wustl.edu	37	chr1	115167822	115167822	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagatcttcctctgatttTtccaccatatttctttggtt	6	22	4	9	0	3	2	0	1	3	1	5	2	5	2	3	1	0	1	3	1	2	9			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:115167822T>C	ENST00000393274.1	-	4	1409	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.K262E|DENND2C_ENST00000393277.1_Missense_Mutation_p.K262E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	262					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCTGATTTTTCCACCATAT	0.333																																																	0													52	50	50					1																	115167822		2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.784A>G	1.37:g.115167822T>C	ENSP00000376955:p.Lys262Glu		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.K262E	ENST00000393274.1	37	c.784	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499710	0.26861	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.46451	3.57;3.65;0.87	5.2	4.05	0.47172	.	0.401797	0.28790	N	0.014122	T	0.16214	0.0390	L	0.59436	1.845	0.24585	N	0.993852	P;P	0.41313	0.745;0.481	B;B	0.36134	0.218;0.217	T	0.07404	-1.0774	10	0.25106	T	0.35	.	7.5452	0.27761	0.0:0.0741:0.1433:0.7826	.	262;262	Q68D51;Q68D51-3	DEN2C_HUMAN;.	E	262	ENSP00000376957:K262E;ENSP00000376955:K262E;ENSP00000376958:K262E	ENSP00000358553:K262E	K	-	1	0	DENND2C	114969345	1.000000	0.71417	0.885000	0.34714	0.747000	0.42532	2.871000	0.48459	0.808000	0.34231	0.477000	0.44152	AAA	DENND2C	-	NULL	ENSG00000175984		0.333	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0	61	0	T	NM_198459		115167822	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.962	C	C	115167822	T	C	115167822	3	2	57	1	0	0	0	0	1	0	0	0	4444	1850	64	4	1899	4	DENND2C	1	115167822	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	2643457	115167822	134082799	20	14018											
CASQ2	845	genome.wustl.edu	37	chr1	116280873	116280873	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcactcttgaaaaagccAatgagtttgatgtagtcttc	11	14	7	9	0	3	3	1	3	2	0	5	3	4	3	2	0	1	2	2	0	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:116280873A>G	ENST00000261448.5	-	4	743	c.504T>C	c.(502-504)atT>atC	p.I168I	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	168					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGAAAAAGCCAATGAGTTTGA	0.458																																																	0													224	197	206					1																	116280873		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.504T>C	1.37:g.116280873A>G			B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.I168	ENST00000261448.5	37	c.504	CCDS884.1	1																																																																																			CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.458	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	-	0	72	0	A	NM_001232		116280873	-1	tier1	-	no_errors	ENST00000261448	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.876	G	G	116280873	A	G	116280873	2	3	57	1	0	0	0	0	0	0	0	1	2688	126	5	4		4	CASQ2	1	116280873	Silent	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	1113051	116280873	132969748	21	14019											
HSD3B2	3284	genome.wustl.edu	37	chr1	119965155	119965155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtataagccactctacaGctgggaggaagccaagcaga	13	5	13	10	1	1	1	0	0	1	1	1	3	1	3	2	3	5	3	2	3	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:119965155G>T	ENST00000543831.1	+	4	1280	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	HSD3B2_ENST00000369416.3_Missense_Mutation_p.S344I	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	344					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CCACTCTACAGCTGGGAGGAA	0.512																																																	0													62	57	59					1																	119965155		2203	4300	6503	SO:0001583	missense	0			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.1031G>T	1.37:g.119965155G>T	ENSP00000445122:p.Ser344Ile		A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.S344I	ENST00000543831.1	37	c.1031	CCDS902.1	1	.	.	.	.	.	.	.	.	.	.	-	15.92	2.973844	0.53720	.	.	ENSG00000203859	ENST00000543831;ENST00000369416	D;D	0.90261	-2.64;-2.64	4.32	2.35	0.29111	.	0.387614	0.32258	N	0.006357	D	0.90741	0.7094	M	0.92169	3.28	0.24126	N	0.995789	D	0.52996	0.957	P	0.50970	0.655	D	0.85853	0.1405	9	.	.	.	-23.8507	8.5966	0.33718	0.0891:0.3231:0.5878:0.0	.	344	P26439	3BHS2_HUMAN	I	344	ENSP00000445122:S344I;ENSP00000358424:S344I	.	S	+	2	0	HSD3B2	119766678	0.918000	0.31147	0.989000	0.46669	0.856000	0.48823	1.279000	0.33191	0.273000	0.22049	0.298000	0.19748	AGC	HSD3B2	-	NULL	ENSG00000203859		0.512	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1	-	0	57	0	G	NM_000198		119965155	1	tier1	-	no_errors	ENST00000369416	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.997	T	T	119965155	G	T	119965155	3	4	57	1	0	0	0	0	1	0	0	0	7418	971	34	3	1041	3	HSD3B2	1	119965155	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3684282	119965155	129285466	22	14020											
POGZ	23126	genome.wustl.edu	37	chr1	151396522	151396522	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctactttgccaccatcccGtccatagtagaagtcatcta	10	11	7	13	1	2	1	1	0	1	1	4	1	4	1	4	1	2	2	4	1	5	5	rs267598016		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:151396522G>T	ENST00000271715.2	-	9	1740	c.1426C>A	c.(1426-1428)Cgg>Agg	p.R476R	POGZ_ENST00000531094.1_Silent_p.R414R|POGZ_ENST00000392723.1_Silent_p.R423R|POGZ_ENST00000409503.1_Silent_p.R467R|POGZ_ENST00000361398.3_Silent_p.R423R|POGZ_ENST00000491586.1_Silent_p.R423R|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Silent_p.R381R	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	476					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACCATCCCGTCCATAGTAG	0.473																																																	0													144	133	136					1																	151396522		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1426C>A	1.37:g.151396522G>T			B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.R476	ENST00000271715.2	37	c.1426	CCDS997.1	1																																																																																			POGZ	-	NULL	ENSG00000143442		0.473	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	-	0	67	0	G	NM_207171		151396522	-1	tier1	-	no_errors	ENST00000271715	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T	T	151396522	G	T	151396522	2	4	57	1	0	0	0	0	0	0	0	1	12225	1144	40	2		2	POGZ	1	151396522	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	31431367	151396522	97854099	23	14021											
HRNR	388697	genome.wustl.edu	37	chr1	152195673	152195673	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatactccccatgctgggtGgcatattggtagaaaacatc	11	11	9	10	0	1	1	1	0	0	1	3	1	2	1	2	3	3	3	2	3	5	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:152195673G>T	ENST00000368801.2	-	2	132	c.57C>A	c.(55-57)gcC>gcA	p.A19A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	19	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCTGGGTGGCATATTGGT	0.418																																																	0													171	156	161					1																	152195673		2203	4300	6503	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.57C>A	1.37:g.152195673G>T			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.A19	ENST00000368801.2	37	c.57	CCDS30859.1	1																																																																																			HRNR	-	pfam_S100_Ca-bd_sub	ENSG00000197915		0.418	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	60	0	G	XM_373868		152195673	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.327	T	T	152195673	G	T	152195673	2	4	57	1	0	0	0	0	0	0	0	1	7386	1335	47	3		3	HRNR	1	152195673	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	799151	152195673	97054948	24	14022											
SPRR2B	6701	genome.wustl.edu	37	chr1	153043267	153043267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactttggcgtggggcacaCaggaggtggctggcagggct	6	7	19	9	1	0	0	0	0	0	0	0	1	0	1	0	8	0	5	0	8	0	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:153043267C>A	ENST00000368755.2	-	1	49	c.49G>T	c.(49-51)Gtg>Ttg	p.V17L	SPRR2B_ENST00000368752.4_Missense_Mutation_p.V17L|SPRR2B_ENST00000341611.2_Missense_Mutation_p.V17L			P35325	SPR2B_HUMAN	small proline-rich protein 2B	17					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGGCACACAGGAGGTGGC	0.587																																																	0													17	17	17					1																	153043267		2175	4225	6400	SO:0001583	missense	0			AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.49G>T	1.37:g.153043267C>A	ENSP00000357744:p.Val17Leu		Q5T528	Missense_Mutation	SNP	NULL	p.V17L	ENST00000368755.2	37	c.49	CCDS30865.1	1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112642	0.37242	.	.	ENSG00000196805	ENST00000368755;ENST00000341611;ENST00000368752	T;T;T	0.40756	1.02;1.02;1.02	3.0	1.07	0.20283	.	0.000000	0.32314	N	0.006269	T	0.12817	0.0311	.	.	.	0.09310	N	1	B	0.27823	0.19	B	0.28784	0.094	T	0.13656	-1.0501	9	0.87932	D	0	.	4.5622	0.12166	0.0:0.6843:0.0:0.3157	.	17	P35325	SPR2B_HUMAN	L	17	ENSP00000357744:V17L;ENSP00000340703:V17L;ENSP00000357741:V17L	ENSP00000340703:V17L	V	-	1	0	SPRR2B	151309891	0.932000	0.31603	0.813000	0.32504	0.856000	0.48823	1.106000	0.31098	0.576000	0.29452	0.455000	0.32223	GTG	SPRR2B	-	NULL	ENSG00000196805		0.587	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR2B	HGNC	protein_coding	OTTHUMT00000038905.2	-	0	99	0	C			153043267	-1	tier1	-	no_errors	ENST00000341611	ensembl	human	known	74_37	missense	18.37	80	18	SNP	0.326	A	A	153043267	C	A	153043267	3	1	57	1	0	0	0	0	1	0	0	0	15145	478	17	3	173	3	SPRR2B	1	153043267	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	847594	153043267	96207354	25	14023											
ATP8B2	57198	genome.wustl.edu	37	chr1	154307008	154307008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaagctgatgcaaaacagcGgcagaacaaagttcaaaaga	19	5	9	8	1	1	3	1	1	0	2	1	3	1	3	0	1	5	4	0	1	7	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:154307008G>A	ENST00000368489.3	+	11	877	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.G260S|ATP8B2_ENST00000341822.2_Missense_Mutation_p.G279S	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	279					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAAAACAGCGGCAGAACAAA	0.547																																																	0													100	93	95					1																	154307008		2203	4300	6503	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.877G>A	1.37:g.154307008G>A	ENSP00000357475:p.Gly293Ser		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G293S	ENST00000368489.3	37	c.877	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.184476	0.94885	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.89875	-2.58;-0.94;-0.94	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92384	0.7583	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.92254	0.5811	10	0.52906	T	0.07	.	16.8058	0.85666	0.0:0.0:1.0:0.0	.	279;293;260	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	S	260;293;279	ENSP00000357472:G260S;ENSP00000357475:G293S;ENSP00000340448:G279S	ENSP00000340448:G279S	G	+	1	0	ATP8B2	152573632	1.000000	0.71417	0.976000	0.42696	0.864000	0.49448	9.657000	0.98554	2.547000	0.85894	0.591000	0.81541	GGC	ATP8B2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000143515		0.547	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	-	0	32	0	G	NM_020452		154307008	1	tier1	-	no_errors	ENST00000368489	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	154307008	G	A	154307008	3	1	57	1	0	0	0	0	1	0	0	0	1196	1116	39	1	919	1	ATP8B2	1	154307008	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1263741	154307008	94943613	26	14024											
CD1B	910	genome.wustl.edu	37	chr1	158301174	158301174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgttcactgttaccaccagGaaagagaacagctaacagtt	15	9	8	9	0	1	1	1	0	0	1	1	3	1	2	2	1	4	4	2	1	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:158301174G>T	ENST00000368168.3	-	1	147	c.40C>A	c.(40-42)Cct>Act	p.P14T		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	14					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTACCACCAGGAAAGAGAACA	0.473																																																	0													82	73	76					1																	158301174		2203	4300	6503	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.40C>A	1.37:g.158301174G>T	ENSP00000357150:p.Pro14Thr		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.P14T	ENST00000368168.3	37	c.40	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	G	8.255	0.809819	0.16537	.	.	ENSG00000158485	ENST00000368168	T	0.01388	4.95	3.14	1.17	0.20885	.	0.565388	0.13450	N	0.387011	T	0.02193	0.0068	M	0.89414	3.03	0.09310	N	1	P;B	0.49862	0.929;0.046	P;B	0.58172	0.834;0.011	T	0.38478	-0.9659	10	0.39692	T	0.17	-4.4377	3.6265	0.08114	0.1347:0.0:0.6206:0.2447	.	14;14	B4E0D2;P29016	.;CD1B_HUMAN	T	14	ENSP00000357150:P14T	ENSP00000357150:P14T	P	-	1	0	CD1B	156567798	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.161000	0.16481	0.317000	0.23160	0.650000	0.86243	CCT	CD1B	-	NULL	ENSG00000158485		0.473	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	-	0	60	0	G	NM_001764		158301174	-1	tier1	-	no_errors	ENST00000368168	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.001	T	T	158301174	G	T	158301174	3	4	57	1	0	0	0	0	1	0	0	0	2982	1174	41	3	985	3	CD1B	1	158301174	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3994166	158301174	90949447	27	14025											
DCAF6	55827	genome.wustl.edu	37	chr1	168014359	168014359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccactgggccttcagctCatgaagaaacatccaccagg	13	6	9	13	0	2	2	2	1	0	1	3	2	3	2	4	2	3	1	4	2	3	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:168014359C>T	ENST00000312263.6	+	14	2125	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	DCAF6_ENST00000367840.3_Missense_Mutation_p.H718Y|DCAF6_ENST00000367843.3_Missense_Mutation_p.H661Y|DCAF6_ENST00000432587.2_Missense_Mutation_p.H687Y	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	641					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GCCTTCAGCTCATGAAGAAAC	0.502																																																	0													59	61	60					1																	168014359		2203	4300	6503	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1921C>T	1.37:g.168014359C>T	ENSP00000311949:p.His641Tyr		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.H718Y	ENST00000312263.6	37	c.2152	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071400	0.36566	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.43	4.46	0.54185	WD40 repeat-like-containing domain (1);	0.701631	0.15116	N	0.279680	T	0.07324	0.0185	N	0.08118	0	0.27345	N	0.956399	B;P;B;P	0.37233	0.337;0.588;0.246;0.588	B;B;B;B	0.37480	0.099;0.251;0.081;0.169	T	0.11084	-1.0602	9	0.13470	T	0.59	.	13.3376	0.60526	0.1573:0.8427:0.0:0.0	.	687;718;641;661	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	Y	661;687;641;718	ENSP00000356817:H661Y;ENSP00000396238:H687Y;ENSP00000311949:H641Y;ENSP00000356814:H718Y	ENSP00000311949:H641Y	H	+	1	0	DCAF6	166280983	0.021000	0.18746	0.229000	0.23960	0.879000	0.50718	2.355000	0.44107	2.547000	0.85894	0.467000	0.42956	CAT	DCAF6	-	superfamily_WD40_repeat_dom	ENSG00000143164		0.502	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0	43	0	C	NM_018442		168014359	1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	missense	66.67	11	22	SNP	0.133	T	T	168014359	C	T	168014359	3	4	57	1	0	0	0	0	1	0	0	0	4283	826	29	3	2039	3	DCAF6	1	168014359	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	9713185	168014359	81236262	28	14026											
SCYL3	57147	genome.wustl.edu	37	chr1	169838164	169838164	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctgttgaaagctggaGagaacatccgctgaaactga	14	8	12	7	1	1	4	0	3	1	1	2	6	2	5	1	2	3	3	1	2	4	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:169838164G>T	ENST00000367770.1	-	6	689	c.642C>A	c.(640-642)ctC>ctA	p.L214L	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Silent_p.L214L|SCYL3_ENST00000367771.6_Silent_p.L214L			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	214	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAAGCTGGAGAGAACATCCG	0.473																																																	0													105	93	97					1																	169838164		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.642C>A	1.37:g.169838164G>T			A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom	p.L214	ENST00000367770.1	37	c.642	CCDS1287.1	1																																																																																			SCYL3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000000457		0.473	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4		0	100	0	G	NM_181093		169838164	-1			no_errors	ENST00000367770	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.985	T	T	169838164	G	T	169838164	2	4	57	1	0	0	0	0	0	0	0	1	13994	929	33	3		3	SCYL3	1	169838164	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1823805	169838164	79412457	29	14027											
C1orf9	51430	genome.wustl.edu	37	chr1	172571303	172571303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgaaatacttctcaatttGatggagattatatttcaaaa	15	15	6	5	1	2	2	2	1	1	1	4	4	2	2	0	1	1	0	0	1	7	6	rs549545393		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:172571303G>A	ENST00000263688.3	+	21	3337	c.3118G>A	c.(3118-3120)Gat>Aat	p.D1040N	SUCO_ENST00000608151.1_Missense_Mutation_p.D1192N|SUCO_ENST00000367723.4_Missense_Mutation_p.D1191N|SUCO_ENST00000610051.1_Missense_Mutation_p.D669N	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	1040					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTCTCAATTTGATGGAGATTA	0.328																																																	0													108	99	102					1																	172571303		2201	4300	6501	SO:0001583	missense	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.3118G>A	1.37:g.172571303G>A	ENSP00000263688:p.Asp1040Asn		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.D1192N	ENST00000263688.3	37	c.3574	CCDS1303.1	1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525812	0.44969	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.54	5.54	0.83059	.	0.476210	0.24611	N	0.037060	T	0.15565	0.0375	L	0.36672	1.1	0.26836	N	0.968489	B;P;B;B	0.50443	0.304;0.935;0.178;0.07	B;P;B;B	0.47864	0.043;0.559;0.072;0.03	T	0.06285	-1.0835	9	0.14656	T	0.56	-9.5062	7.4238	0.27088	0.0836:0.0:0.7489:0.1675	.	669;1040;1192;1040	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	N	1192;1040	.	ENSP00000263688:D1040N	D	+	1	0	C1orf9	170837926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.892000	0.48625	2.585000	0.87301	0.650000	0.86243	GAT	SUCO	-	NULL	ENSG00000094975		0.328	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1	-	0	76	0	G	NM_016227		172571303	1	tier1	-	no_errors	ENST00000608151	ensembl	human	known	74_37	missense	61.11	28	44	SNP	1.000	A	A	172571303	G	A	172571303	3	1	57	1	0	0	0	0	1	0	0	0	2074	1290	45	3	3200	3	C1orf9	1	172571303	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2733139	172571303	76679318	30	14028											
TDRD5	163589	genome.wustl.edu	37	chr1	179659906	179659906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattgtacaaagacaagcGtcaagaatctgtagaccagc	16	8	8	9	1	2	3	1	0	1	3	2	3	2	3	1	0	4	2	1	0	7	4	rs570123255		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:179659906G>A	ENST00000367614.1	+	17	3133	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	TDRD5_ENST00000294848.8_Missense_Mutation_p.R925H|TDRD5_ENST00000444136.1_Missense_Mutation_p.R979H	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	925					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)		p.R925H(2)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAAGACAAGCGTCAAGAATCT	0.418													G|||	1	0.000199681	0	0	5008	,	,		20527	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)											82	79	80					1																	179659906		2203	4300	6503	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2774G>A	1.37:g.179659906G>A	ENSP00000356586:p.Arg925His		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R979H	ENST00000367614.1	37	c.2936	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	G	7.090	0.571962	0.13623	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.29917	2.76;2.76;2.98;1.55	5.17	2.11	0.27256	.	0.965874	0.08577	N	0.925189	T	0.12178	0.0296	N	0.03608	-0.345	0.09310	N	1	P;B	0.35844	0.524;0.015	B;B	0.30855	0.121;0.001	T	0.10965	-1.0607	10	0.62326	D	0.03	-15.9539	4.4233	0.11492	0.2005:0.1872:0.6123:0.0	.	979;925	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	H	925;925;979;435	ENSP00000356586:R925H;ENSP00000294848:R925H;ENSP00000406052:R979H;ENSP00000410744:R435H	ENSP00000294848:R925H	R	+	2	0	TDRD5	177926529	0.007000	0.16637	0.080000	0.20451	0.272000	0.26649	0.730000	0.26043	1.302000	0.44855	0.655000	0.94253	CGT	TDRD5	-	NULL	ENSG00000162782		0.418	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	-	0	30	0	G	NM_173533		179659906	1	tier1	-	no_errors	ENST00000444136	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.003	A	A	179659906	G	A	179659906	3	1	57	1	0	0	0	0	1	0	0	0	15780	1145	40	1	2836	1	TDRD5	1	179659906	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7088603	179659906	69590715	31	14029											
TEDDM1	127670	genome.wustl.edu	37	chr1	182369110	182369110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaagcctgcctgcatcaGccaggagcccatcatcagaa	14	6	8	13	0	3	1	3	0	0	1	3	2	3	2	4	1	5	1	4	1	4	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:182369110G>T	ENST00000367565.1	-	1	641	c.511C>A	c.(511-513)Ctg>Atg	p.L171M		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	171						integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						GCCTGCATCAGCCAGGAGCCC	0.522																																																	0													70	71	71					1																	182369110		2203	4300	6503	SO:0001583	missense	0			AJ515384	CCDS30953.1	1q25.3	2009-09-17		2005-08-09	ENSG00000203730	ENSG00000203730			30233	protein-coding gene	gene with protein product	"putative membrane protein HE9", "transmembrane protein 45C", "epididymal protein 9"						Standard	NM_172000		Approved	HE9, Epdd1, TMEM45C, EDDM9	uc001gpe.3	Q5T9Z0	OTTHUMG00000037398	ENST00000367565.1:c.511C>A	1.37:g.182369110G>T	ENSP00000356536:p.Leu171Met		Q8IVJ0	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.L171M	ENST00000367565.1	37	c.511	CCDS30953.1	1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445899	0.43429	.	.	ENSG00000203730	ENST00000367565	T	0.48201	0.82	4.92	2.91	0.33838	.	0.134851	0.33005	N	0.005387	T	0.56891	0.2016	L	0.56769	1.78	0.30932	N	0.726801	D	0.89917	1.0	D	0.97110	1.0	T	0.55854	-0.8075	10	0.35671	T	0.21	-20.9563	5.4034	0.16308	0.3166:0.0:0.6834:0.0	.	171	Q5T9Z0	TEDM1_HUMAN	M	171	ENSP00000356536:L171M	ENSP00000356536:L171M	L	-	1	2	TEDDM1	180635733	1.000000	0.71417	0.998000	0.56505	0.615000	0.37417	0.728000	0.26013	1.302000	0.44855	-0.253000	0.11424	CTG	TEDDM1	-	pfam_DUF716_TMEM45	ENSG00000203730		0.522	TEDDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEDDM1	HGNC	protein_coding	OTTHUMT00000091029.1		0	27	0	G	NM_172000		182369110	-1			no_errors	ENST00000367565	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	182369110	G	T	182369110	3	4	57	1	0	0	0	0	1	0	0	0	15796	962	34	3	314	3	TEDDM1	1	182369110	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2709204	182369110	66881511	32	14030											
PTGS2	5743	genome.wustl.edu	37	chr1	186645102	186645102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcaatatagagttgttGtagataaactgttgatagtt	13	15	9	4	0	0	3	0	1	0	2	1	3	1	3	1	0	2	6	1	0	7	9			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:186645102G>A	ENST00000367468.5	-	8	1321	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	395					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.Y395*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TAGAGTTGTTGTAGATAAACT	0.388																																																	2	Substitution - Nonsense(2)	kidney(2)											148	144	146					1																	186645102		2203	4300	6503	SO:0001819	synonymous_variant	0			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1185C>T	1.37:g.186645102G>A			A8K802|Q16876	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.Y395	ENST00000367468.5	37	c.1185	CCDS1371.1	1																																																																																			PTGS2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000073756		0.388	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS2	HGNC	protein_coding	OTTHUMT00000086157.2	-	0	100	0	G	NM_000963		186645102	-1	tier1	-	no_errors	ENST00000367468	ensembl	human	known	74_37	silent	51.40	52	55	SNP	1.000	A	A	186645102	G	A	186645102	2	1	57	1	0	0	0	0	0	0	0	1	12799	1372	48	3		3	PTGS2	1	186645102	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4275992	186645102	62605519	33	14031											
PLA2G4A	5321	genome.wustl.edu	37	chr1	186915831	186915831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtacttttatggctcccGacttatttggaagcaaattt	10	16	8	7	1	0	0	0	0	0	0	1	2	1	1	1	3	2	3	1	3	5	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:186915831G>T	ENST00000367466.3	+	11	1248	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.D306Y	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	366	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TATGGCTCCCGACTTATTTGG	0.323																																																	0													85	86	85					1																	186915831		2203	4300	6503	SO:0001583	missense	0			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1096G>T	1.37:g.186915831G>T	ENSP00000356436:p.Asp366Tyr		B1AKG4|Q29R80	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.D366Y	ENST00000367466.3	37	c.1096	CCDS1372.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091367	0.76756	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.04603	3.59;3.59	5.91	5.0	0.66597	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.134192	0.64402	D	0.000002	T	0.17023	0.0409	L	0.56769	1.78	0.58432	D	0.99999	D;D	0.65815	0.995;0.993	D;P	0.67900	0.954;0.905	T	0.00238	-1.1889	10	0.87932	D	0	-24.4016	14.1289	0.65240	0.0712:0.0:0.9288:0.0	.	306;366	E7EU42;P47712	.;PA24A_HUMAN	Y	366;306	ENSP00000356436:D366Y;ENSP00000406892:D306Y	ENSP00000356436:D366Y	D	+	1	0	PLA2G4A	185182454	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.731000	0.98807	1.508000	0.48769	0.655000	0.94253	GAC	PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000116711		0.323	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	-	0	51	0	G	NM_024420		186915831	1	tier1	-	no_errors	ENST00000367466	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	186915831	G	T	186915831	3	4	57	1	0	0	0	0	1	0	0	0	12040	1058	37	2	1134	2	PLA2G4A	1	186915831	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	270729	186915831	62334790	34	14032											
KCNT2	343450	genome.wustl.edu	37	chr1	196300382	196300382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaataaggtgggtaaccTttagcatacctgtaaaataa	16	10	10	5	0	0	1	0	0	0	1	0	2	0	1	2	3	3	3	2	3	8	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:196300382T>G	ENST00000294725.9	-	18	2922	c.2007A>C	c.(2005-2007)aaA>aaC	p.K669N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.K669N|KCNT2_ENST00000451324.2_Missense_Mutation_p.K280N|KCNT2_ENST00000609185.1_Missense_Mutation_p.K619N|KCNT2_ENST00000367431.4_Missense_Mutation_p.K619N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	669					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGGGTAACCTTTAGCATACC	0.328																																																	0													126	138	134					1																	196300382		2203	4293	6496	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2007A>C	1.37:g.196300382T>G	ENSP00000294725:p.Lys669Asn		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.K669N	ENST00000294725.9	37	c.2007	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.306997	0.60305	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000002	D	0.87144	0.6104	M	0.88842	2.985	0.49915	D	0.999833	P;P;P;P;P	0.51791	0.913;0.948;0.948;0.948;0.913	B;P;P;P;B	0.48454	0.374;0.578;0.578;0.578;0.374	D	0.87288	0.2297	10	0.36615	T	0.2	-31.4777	11.3252	0.49444	0.0:0.073:0.0:0.927	.	669;651;669;619;669	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	N	669;619;490;280;669	ENSP00000356403:K669N;ENSP00000356401:K619N;ENSP00000405474:K280N;ENSP00000294725:K669N	ENSP00000294725:K669N	K	-	3	2	KCNT2	194567005	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.139000	0.31504	2.216000	0.71823	0.397000	0.26171	AAA	KCNT2	-	NULL	ENSG00000162687		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2		0	41	0	T	NM_198503		196300382	-1			no_errors	ENST00000294725	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	G	G	196300382	T	G	196300382	3	3	57	1	0	0	0	0	1	0	0	0	8119	1606	56	4	1444	4	KCNT2	1	196300382	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	9384551	196300382	52950239	35	14033											
PTPRC	5788	genome.wustl.edu	37	chr1	198717261	198717261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccttcatataggagctgGaggacacagcacattggaaa	13	9	10	9	0	1	0	1	0	0	0	2	4	2	4	1	4	2	2	1	4	3	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:198717261G>T	ENST00000367376.2	+	27	3036	c.2865G>T	c.(2863-2865)tgG>tgT	p.W955C	PTPRC_ENST00000352140.3_Missense_Mutation_p.W907C|PTPRC_ENST00000442510.2_Missense_Mutation_p.W957C|PTPRC_ENST00000348564.6_Missense_Mutation_p.W796C|PTPRC_ENST00000594404.1_Missense_Mutation_p.W794C	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	955	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATAGGAGCTGGAGGACACAGC	0.294																																																	0													19	19	19					1																	198717261		2065	4188	6253	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2865G>T	1.37:g.198717261G>T	ENSP00000356346:p.Trp955Cys		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.W957C	ENST00000367376.2	37	c.2871		1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244153	0.79912	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.13657	2.57	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.47093	D	0.000253	T	0.45637	0.1352	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.48559	-0.9025	10	0.87932	D	0	.	19.7705	0.96361	0.0:0.0:1.0:0.0	.	796;907;955	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	C	957;907;955;794	ENSP00000193532:W907C	ENSP00000306782:W794C	W	+	3	0	PTPRC	196983884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.012000	0.88631	2.669000	0.90835	0.655000	0.94253	TGG	PTPRC	-	pirsf_Leukocyte_common_ag,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000081237		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0	47	0	G			198717261	1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	T	T	198717261	G	T	198717261	3	4	57	1	0	0	0	0	1	0	0	0	12842	1183	41	3	2978	3	PTPRC	1	198717261	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2416879	198717261	50533360	36	14034											
NR5A2	2494	genome.wustl.edu	37	chr1	200008904	200008904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcatggggaacagggccaGatgccggaaaacatgcaagg	13	4	15	9	2	0	1	0	0	0	1	1	3	0	3	2	5	4	2	2	5	4	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:200008904G>T	ENST00000367362.3	+	2	429	c.183G>T	c.(181-183)caG>caT	p.Q61H	NR5A2_ENST00000544748.1_5'Flank|NR5A2_ENST00000236914.3_Intron	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	61					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q61H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACAGGGCCAGATGCCGGAAA	0.701																																					Melanoma(179;1138 2773 15678 26136)												1	Substitution - Missense(1)	lung(1)											31	37	35					1																	200008904		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.183G>T	1.37:g.200008904G>T	ENSP00000356331:p.Gln61His		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.Q61H	ENST00000367362.3	37	c.183	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238968	0.39598	.	.	ENSG00000116833	ENST00000367362	D	0.94046	-3.34	5.1	4.18	0.49190	.	0.313947	0.35207	N	0.003380	D	0.82765	0.5108	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.76729	-0.2852	9	.	.	.	.	9.5963	0.39576	0.0765:0.1398:0.7837:0.0	.	61	O00482	NR5A2_HUMAN	H	61	ENSP00000356331:Q61H	.	Q	+	3	2	NR5A2	198275527	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.632000	0.46511	2.351000	0.79841	0.650000	0.86243	CAG	NR5A2	-	pirsf_Steroidogenic_factor_1	ENSG00000116833		0.701	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2		0	59	0	G			200008904	1			no_errors	ENST00000367362	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	200008904	G	T	200008904	3	4	57	1	0	0	0	0	1	0	0	0	10675	933	33	3	189	3	NR5A2	1	200008904	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1291643	200008904	49241717	37	14035											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200824002	200824002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taacgagagtgtacattcagGcaagaggacgccaaggtaaa	16	6	12	7	2	1	2	1	0	0	2	1	4	1	3	1	3	2	3	1	3	6	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:200824002G>T	ENST00000236925.4	+	15	3963	c.3914G>T	c.(3913-3915)gGc>gTc	p.G1305V	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.G1278V|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.G1294V			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1305					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GTACATTCAGGCAAGAGGACG	0.343																																																	0													85	82	83					1																	200824002		2203	4300	6503	SO:0001583	missense	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3914G>T	1.37:g.200824002G>T	ENSP00000236925:p.Gly1305Val		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.G1305V	ENST00000236925.4	37	c.3914		1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793524	0.50102	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.15952	2.39;2.38;2.39	5.93	5.93	0.95920	.	0.199388	0.52532	D	0.000065	T	0.13713	0.0332	N	0.24115	0.695	0.80722	D	1	B;B;B	0.26400	0.148;0.091;0.148	B;B;B	0.27715	0.07;0.082;0.07	T	0.04885	-1.0920	10	0.49607	T	0.09	-20.0244	13.5245	0.61586	0.071:0.0:0.929:0.0	.	1278;1305;1294	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	V	1294;1278;1305	ENSP00000351684:G1294V;ENSP00000416800:G1278V;ENSP00000236925:G1305V	ENSP00000236925:G1305V	G	+	2	0	CAMSAP1L1	199090625	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.038000	0.70964	2.814000	0.96858	0.563000	0.77884	GGC	CAMSAP2	-	NULL	ENSG00000118200		0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0	68	0	G	NM_203459		200824002	1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	200824002	G	T	200824002	3	4	57	1	0	0	0	0	1	0	0	0	2619	1203	42	3	3935	3	CAMSAP1L1	1	200824002	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	815098	200824002	48426619	38	14036											
ELF3	1999	genome.wustl.edu	37	chr1	201981121	201981121	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggaacagccccagttctGgtcgaagacgcaggttctgg	8	7	16	10	2	2	1	0	0	2	1	3	3	2	2	2	5	2	3	2	5	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:201981121G>A	ENST00000359651.3	+	2	3392	c.200G>A	c.(199-201)tGg>tAg	p.W67*	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Nonsense_Mutation_p.W67*|ELF3_ENST00000367283.3_Nonsense_Mutation_p.W67*|ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CCCCAGTTCTGGTCGAAGACG	0.582																																																	0													108	110	109					1																	201981121		2203	4300	6503	SO:0001587	stop_gained	0			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.200G>A	1.37:g.201981121G>A	ENSP00000352673:p.Trp67*			Nonsense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.W67*	ENST00000359651.3	37	c.200	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.731789	0.96856	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	.	.	.	5.56	5.56	0.83823	.	0.143058	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5332	0.95237	0.0:0.0:1.0:0.0	.	.	.	.	X	67;67;67;67;65	.	ENSP00000311348:W67X	W	+	2	0	ELF3	200247744	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	9.087000	0.94110	2.608000	0.88229	0.591000	0.81541	TGG	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom	ENSG00000163435		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	-	0	42	0	G	NM_004433		201981121	1	tier1	-	no_errors	ENST00000359651	ensembl	human	known	74_37	nonsense	66.67	13	26	SNP	1.000	A	A	201981121	G	A	201981121	4	1	57	1	0	0	0	0	0	1	0	0	5071	1357	47	3	206	3	ELF3	1	201981121	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1157119	201981121	47269500	39	14037											
ATP2B4	493	genome.wustl.edu	37	chr1	203677035	203677035	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggcacttggatgcttgtGagaccatgggcaacgccacc	9	8	12	12	2	0	1	0	1	0	1	0	3	0	2	3	3	3	3	3	3	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:203677035G>T	ENST00000357681.5	+	10	2483	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*	ATP2B4_ENST00000341360.2_Nonsense_Mutation_p.E454*|ATP2B4_ENST00000391954.2_Nonsense_Mutation_p.E454*|ATP2B4_ENST00000367219.3_Nonsense_Mutation_p.E442*|ATP2B4_ENST00000367218.3_Nonsense_Mutation_p.E454*	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	454					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGATGCTTGTGAGACCATGGG	0.468																																																	0													123	113	116					1																	203677035		2203	4300	6503	SO:0001587	stop_gained	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1360G>T	1.37:g.203677035G>T	ENSP00000350310:p.Glu454*		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.E454*	ENST00000357681.5	37	c.1360	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.568076	0.99207	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	.	.	.	5.54	5.54	0.83059	.	0.000000	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.302	19.0733	0.93148	0.0:0.0:1.0:0.0	.	.	.	.	X	454;454;442;454;454	.	ENSP00000340930:E454X	E	+	1	0	ATP2B4	201943658	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	9.828000	0.99408	2.598000	0.87819	0.462000	0.41574	GAG	ATP2B4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.468	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0	49	0	G	NM_001001396		203677035	1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T	T	203677035	G	T	203677035	4	4	57	1	0	0	0	0	0	1	0	0	1143	1291	45	3	1394	3	ATP2B4	1	203677035	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1695914	203677035	45573586	40	14038											
C4BPB	725	genome.wustl.edu	37	chr1	207263802	207263802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaatgcctctaaggagtggGataacaccactactgagtgc	12	8	11	10	0	1	1	0	1	1	0	1	3	1	3	2	2	4	1	2	2	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:207263802G>T	ENST00000243611.5	+	2	502	c.208G>T	c.(208-210)Gat>Tat	p.D70Y	C4BPB_ENST00000367076.3_Missense_Mutation_p.D69Y|C4BPB_ENST00000367078.3_Missense_Mutation_p.D70Y|C4BPB_ENST00000391923.1_Missense_Mutation_p.D70Y|C4BPB_ENST00000451804.2_Missense_Mutation_p.D60Y	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	70	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						TAAGGAGTGGGATAACACCAC	0.443																																																	0													126	115	118					1																	207263802		2203	4300	6503	SO:0001583	missense	0			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"complement component 4 binding protein, beta chain", "C4b binding protein, beta chain"	120831	"complement component 4-binding protein, beta"	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.208G>T	1.37:g.207263802G>T	ENSP00000243611:p.Asp70Tyr		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D70Y	ENST00000243611.5	37	c.208	CCDS1476.1	1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659447	0.47467	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.1	-3.07	0.05363	Complement control module (2);Sushi/SCR/CCP (3);	1.165150	0.06305	N	0.701654	T	0.73536	0.3599	M	0.64997	1.995	0.09310	N	0.999992	D;D;D;D	0.65815	0.995;0.99;0.971;0.965	D;P;P;P	0.63597	0.916;0.9;0.776;0.667	T	0.69191	-0.5210	10	0.56958	D	0.05	-0.3228	13.2695	0.60153	0.2431:0.0:0.7569:0.0	.	60;60;70;69	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	Y	70;70;70;69;70;60	ENSP00000356045:D70Y;ENSP00000392237:D70Y;ENSP00000243611:D70Y;ENSP00000356043:D69Y;ENSP00000375790:D70Y;ENSP00000405649:D60Y	ENSP00000243611:D70Y	D	+	1	0	C4BPB	205330425	0.008000	0.16893	0.017000	0.16124	0.086000	0.17979	-0.451000	0.06795	-0.446000	0.07149	-0.312000	0.09012	GAT	C4BPB	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000123843		0.443	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4BPB	HGNC	protein_coding	OTTHUMT00000087847.2	-	0	76	0	G	NM_000716		207263802	1	tier1	-	no_errors	ENST00000243611	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.025	T	T	207263802	G	T	207263802	3	4	57	1	0	0	0	0	1	0	0	0	2257	1174	41	3	214	3	C4BPB	1	207263802	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3586767	207263802	41986819	41	14039											
RCOR3	55758	genome.wustl.edu	37	chr1	211449619	211449619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacttggcatgttgttctgGcataaacataacattgagaa	13	12	9	7	0	1	1	0	1	1	1	1	2	1	1	0	2	2	5	0	2	4	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:211449619G>T	ENST00000367005.4	+	4	342	c.201G>T	c.(199-201)tgG>tgT	p.W67C	RCOR3_ENST00000367006.4_Missense_Mutation_p.W125C|RCOR3_ENST00000419091.2_Missense_Mutation_p.W125C|RCOR3_ENST00000452621.2_Missense_Mutation_p.W125C	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	67	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TGTTGTTCTGGCATAAACATA	0.388																																																	0													224	223	224					1																	211449619		2203	4300	6503	SO:0001583	missense	0			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.201G>T	1.37:g.211449619G>T	ENSP00000355972:p.Trp67Cys		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.W67C	ENST00000367005.4	37	c.201	CCDS31016.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288892	0.80914	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.16	5.16	0.70880	ELM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.73345	0.3575	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.996;0.998;0.998	T	0.76961	-0.2765	10	0.56958	D	0.05	-4.2347	18.9939	0.92804	0.0:0.0:1.0:0.0	.	125;67;125;125	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	C	67;67;125;125;125;67	ENSP00000436057:W67C;ENSP00000436838:W67C;ENSP00000355973:W125C;ENSP00000398558:W125C;ENSP00000413929:W125C;ENSP00000355972:W67C	ENSP00000355972:W67C	W	+	3	0	RCOR3	209516242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.639000	0.98448	2.565000	0.86533	0.585000	0.79938	TGG	RCOR3	-	pfscan_ELM2_dom	ENSG00000117625		0.388	RCOR3-001	KNOWN	basic|CCDS	protein_coding	RCOR3	HGNC	protein_coding	OTTHUMT00000089821.1		0	47	0	G	NM_018254		211449619	1			no_errors	ENST00000367005	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	211449619	G	T	211449619	3	4	57	1	0	0	0	0	1	0	0	0	13229	1212	42	3	393	3	RCOR3	1	211449619	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4185817	211449619	37801002	42	14040											
PROX1	5629	genome.wustl.edu	37	chr1	214171232	214171232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactcctctgaccagtctGcctccggccctgccgctggc	6	8	9	18	2	2	1	0	1	2	0	4	1	4	1	6	2	3	1	6	2	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:214171232G>T	ENST00000366958.4	+	2	1962	c.1354G>T	c.(1354-1356)Gcc>Tcc	p.A452S	PROX1_ENST00000261454.4_Missense_Mutation_p.A452S|PROX1_ENST00000498508.2_Missense_Mutation_p.A452S|PROX1_ENST00000435016.1_Missense_Mutation_p.A452S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	452					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGACCAGTCTGCCTCCGGCCC	0.647																																																	0													64	76	72					1																	214171232		2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1354G>T	1.37:g.214171232G>T	ENSP00000355925:p.Ala452Ser		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.A452S	ENST00000366958.4	37	c.1354	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	G	5.114	0.206695	0.09704	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.71	5.71	0.89125	.	0.048807	0.85682	D	0.000000	T	0.42268	0.1195	L	0.54323	1.7	0.37378	D	0.911912	B	0.06786	0.001	B	0.11329	0.006	T	0.37454	-0.9705	10	0.19590	T	0.45	-4.6853	19.8546	0.96752	0.0:0.0:1.0:0.0	.	452	Q92786	PROX1_HUMAN	S	24;452;452;452;452	ENSP00000420283:A452S;ENSP00000355925:A452S;ENSP00000400694:A452S;ENSP00000261454:A452S	ENSP00000261454:A452S	A	+	1	0	PROX1	212237855	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	4.376000	0.59556	2.697000	0.92050	0.655000	0.94253	GCC	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.647	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0	49	0	G	NM_002763		214171232	1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T	T	214171232	G	T	214171232	3	4	57	1	0	0	0	0	1	0	0	0	12602	1319	46	3	1356	3	PROX1	1	214171232	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2721613	214171232	35079389	43	14041											
PTPN14	5784	genome.wustl.edu	37	chr1	214542828	214542828	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggacatcttctggacaGccgtgatctggccagtcagt	7	11	11	12	1	4	1	1	1	3	0	4	3	4	3	3	3	1	0	3	3	0	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:214542828G>T	ENST00000366956.5	-	17	3437	c.3243C>A	c.(3241-3243)ggC>ggA	p.G1081G	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1081	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTCTGGACAGCCGTGATCTG	0.443																																					Colon(92;557 1424 24372 34121 40073)												0													146	145	145					1																	214542828		2203	4300	6503	SO:0001819	synonymous_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3243C>A	1.37:g.214542828G>T			Q5VSI0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.G1081	ENST00000366956.5	37	c.3243	CCDS1514.1	1																																																																																			PTPN14	-	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000152104		0.443	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0	61	0	G	NM_005401		214542828	-1	tier1	-	no_errors	ENST00000366956	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.940	T	T	214542828	G	T	214542828	2	4	57	1	0	0	0	0	0	0	0	1	12826	958	34	3		3	PTPN14	1	214542828	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	371596	214542828	34707793	44	14042											
USH2A	7399	genome.wustl.edu	37	chr1	216262423	216262423	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcaattatttcatgccatTttccatcactatattgtttg	10	19	4	8	0	2	0	2	0	0	0	3	0	3	0	2	0	2	2	2	0	5	9			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:216262423T>G	ENST00000307340.3	-	23	5203	c.4817A>C	c.(4816-4818)aAa>aCa	p.K1606T	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.K1606T|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1606	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATGCCATTTTCCATCACT	0.343										HNSCC(13;0.011)																																							0													210	193	199					1																	216262423		2203	4299	6502	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.4817A>C	1.37:g.216262423T>G	ENSP00000305941:p.Lys1606Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.K1606T	ENST00000307340.3	37	c.4817	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891699	0.33442	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78816	-1.21;-1.21	5.8	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.838313	0.10136	N	0.711428	T	0.71796	0.3382	L	0.41356	1.27	0.09310	N	1	B	0.28470	0.213	B	0.35182	0.197	T	0.62020	-0.6942	10	0.42905	T	0.14	.	7.9533	0.30027	0.0:0.1449:0.0:0.8551	.	1606	O75445	USH2A_HUMAN	T	1606	ENSP00000305941:K1606T;ENSP00000355910:K1606T	ENSP00000305941:K1606T	K	-	2	0	USH2A	214329046	0.008000	0.16893	0.563000	0.28383	0.628000	0.37860	0.830000	0.27462	2.216000	0.71823	0.533000	0.62120	AAA	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.343	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	102	0	T	NM_007123		216262423	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	16.06	115	22	SNP	0.063	G	G	216262423	T	G	216262423	3	3	57	1	0	0	0	0	1	0	0	0	17085	1841	64	4	10991	4	USH2A	1	216262423	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	1719595	216262423	32988198	45	14043											
MIA3	375056	genome.wustl.edu	37	chr1	222794602	222794602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatatgtttactataaactgGcaagaggatggcctgaagtt	13	13	10	5	0	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	8	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:222794602G>T	ENST00000344922.5	+	2	260	c.235G>T	c.(235-237)Gca>Tca	p.A79S	MIA3_ENST00000344507.1_Missense_Mutation_p.A79S|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.A79S	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	79	SH3.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTATAAACTGGCAAGAGGATG	0.373																																																	0													135	133	134					1																	222794602		1834	4091	5925	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.235G>T	1.37:g.222794602G>T	ENSP00000340900:p.Ala79Ser		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.A79S	ENST00000344922.5	37	c.235	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332317	0.60853	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	D;D;D	0.87887	-2.31;-2.31;-2.31	5.58	4.66	0.58398	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	T	0.81442	0.4823	N	0.16307	0.4	0.23930	N	0.996432	P	0.43788	0.817	P	0.47744	0.556	T	0.71111	-0.4687	9	0.39692	T	0.17	.	9.0349	0.36282	0.2124:0.0:0.7876:0.0	.	79	Q5JRA6	MIA3_HUMAN	S	79	ENSP00000340900:A79S;ENSP00000340587:A79S;ENSP00000341348:A79S	ENSP00000325973:A79S	A	+	1	0	MIA3	220861225	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.160000	0.50739	1.342000	0.45619	0.655000	0.94253	GCA	MIA3	-	pfam_SH3_2,superfamily_SH3_domain	ENSG00000154305		0.373	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	-	0	100	0	G	NM_198551		222794602	1	tier1	-	no_errors	ENST00000344441	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	222794602	G	T	222794602	3	4	57	1	0	0	0	0	1	0	0	0	9603	1203	42	3	241	3	MIA3	1	222794602	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6532179	222794602	26456019	46	14044											
WDR26	80232	genome.wustl.edu	37	chr1	224621665	224621665	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggtcccccgcggacGacgacgacgagggggacgac	8	1	18	14	7	0	0	0	0	0	0	1	7	1	2	3	5	0	0	3	5	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:224621665G>T	ENST00000414423.2	-	1	336	c.143C>A	c.(142-144)tCg>tAg	p.S48*	WDR26_ENST00000366852.2_Nonsense_Mutation_p.S48*|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	48						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CCCCGCGGACGACGACGACGA	0.706																																																	0													15	22	20					1																	224621665		692	1590	2282	SO:0001587	stop_gained	0			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.143C>A	1.37:g.224621665G>T	ENSP00000408108:p.Ser48*		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S48*	ENST00000414423.2	37	c.143	CCDS31037.2	1	.	.	.	.	.	.	.	.	.	.	G	35	5.413636	0.96072	.	.	ENSG00000162923	ENST00000414423;ENST00000366852	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1918	0.59715	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000355817:S48X	S	-	2	0	WDR26	222688288	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	4.614000	0.61183	1.605000	0.50152	0.543000	0.68304	TCG	WDR26	-	NULL	ENSG00000162923		0.706	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	-	0	101	0	G	NM_025160		224621665	-1	tier1	-	no_errors	ENST00000414423	ensembl	human	known	74_37	nonsense	6.85	68	5	SNP	1.000	T	T	224621665	G	T	224621665	4	4	57	1	0	0	0	0	0	1	0	0	17332	1059	37	2	1898	2	WDR26	1	224621665	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1827063	224621665	24628956	47	14045											
LIN9	286826	genome.wustl.edu	37	chr1	226496873	226496873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgctttttcaaaggctGcccgccgcggtgcattgtgg	4	10	14	13	5	1	0	1	0	0	0	1	0	1	0	3	3	2	3	3	3	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:226496873G>T	ENST00000328205.5	-	1	561	c.16C>A	c.(16-18)Cag>Aag	p.Q6K	LIN9_ENST00000481685.1_Missense_Mutation_p.Q6K|LIN9_ENST00000366801.1_5'UTR	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	0	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTCAAAGGCTGCCCGCCGCGG	0.677																																					Ovarian(197;1696 2974 11248 14117)												0													36	35	35					1																	226496873		2203	4300	6503	SO:0001583	missense	0			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.16C>A	1.37:g.226496873G>T	ENSP00000329102:p.Gln6Lys		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_LIN-9/ALY1	p.Q6K	ENST00000328205.5	37	c.16	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	g	16.97	3.269309	0.59540	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000481685;ENST00000366807	.	.	.	3.6	2.67	0.31697	.	.	.	.	.	T	0.45155	0.1328	.	.	.	0.80722	D	1	B;B	0.15141	0.004;0.012	B;B	0.04013	0.001;0.001	T	0.33599	-0.9862	7	0.46703	T	0.11	.	8.3479	0.32284	0.1184:0.0:0.8816:0.0	.	6;140	C9J5J4;B1ANK3	.;.	K	1;6;6;140	.	ENSP00000329102:Q6K	Q	-	1	0	LIN9	224563496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.755000	0.47540	0.630000	0.30394	0.444000	0.29173	CAG	LIN9	-	NULL	ENSG00000183814		0.677	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	-	0	71	0	G	NM_173083		226496873	-1	tier1	-	no_errors	ENST00000328205	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	226496873	G	T	226496873	3	4	57	1	0	0	0	0	1	0	0	0	8843	1328	46	3	1720	3	LIN9	1	226496873	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1875208	226496873	22753748	48	14046											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227288919	227288919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctatgctgcatactcctgGtgagtaactaatttgttttt	8	19	7	7	0	1	1	0	1	1	0	2	1	2	1	1	1	4	4	1	1	4	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:227288919G>T	ENST00000366769.3	-	15	3314	c.2023C>A	c.(2023-2025)Cca>Aca	p.P675T	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P594T|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P675T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P675T(2)|p.P594T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATACTCCTGGTGAGTAACTA	0.259																																																	3	Substitution - Missense(3)	endometrium(3)											66	67	66					1																	227288919		2199	4293	6492	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2023C>A	1.37:g.227288919G>T	ENSP00000355731:p.Pro675Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P675T	ENST00000366769.3	37	c.2023	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.254280	0.22965	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.64803	-0.1;-0.1;-0.1;-0.11;-0.12;-0.09;-0.08	5.57	5.57	0.84162	.	0.211271	0.49916	D	0.000132	T	0.59321	0.2185	L	0.55481	1.735	0.42055	D	0.991132	B;B;B;B	0.15473	0.01;0.001;0.004;0.013	B;B;B;B	0.15484	0.007;0.003;0.013;0.008	T	0.55464	-0.8137	10	0.16896	T	0.51	.	19.5667	0.95397	0.0:0.0:1.0:0.0	.	675;675;594;675	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	T	675;594;675;675;675;675;675	ENSP00000355731:P675T;ENSP00000355729:P594T;ENSP00000335341:P675T;ENSP00000355728:P675T;ENSP00000355726:P675T;ENSP00000443275:P675T;ENSP00000355727:P675T	ENSP00000335341:P675T	P	-	1	0	CDC42BPA	225355542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.439000	0.44846	2.604000	0.88044	0.645000	0.84053	CCA	CDC42BPA	-	NULL	ENSG00000143776		0.259	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0	61	0	G	NM_014826		227288919	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	10.00	54	6	SNP	1.000	T	T	227288919	G	T	227288919	3	4	57	1	0	0	0	0	1	0	0	0	3079	1261	44	3	3224	3	CDC42BPA	1	227288919	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	792046	227288919	21961702	49	14047											
C1orf131	8443	genome.wustl.edu	37	chr1	231374738	231374738	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggatctctggtcctgtgggGgtcccagaaggagcacaatg	9	8	15	9	0	1	1	0	0	1	1	4	3	3	3	2	5	1	1	2	5	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:231374738G>T	ENST00000366647.4	+	0	0				GNPAT_ENST00000366646.3_5'Flank|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366649.2_Silent_p.T105T|C1orf131_ENST00000318906.2_Silent_p.T105T|C1orf131_ENST00000366651.3_Silent_p.T105T	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase						cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCCTGTGGGGGTCCCAGAAG	0.488																																																	0													71	72	72					1																	231374738		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024		1.37:g.231374738G>T	Exception_encountered		B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	NULL	p.T105	ENST00000366647.4	37	c.315	CCDS1592.1	1																																																																																			C1orf131	-	NULL	ENSG00000143633		0.488	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	HGNC	protein_coding	OTTHUMT00000092871.1	-	0	43	0	G			231374738	-1	tier1	-	no_errors	ENST00000366649	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.000	T	T	231374738	G	T	231374738	1	4	57	0	1	0	0	0	0	0	0	0	2005	1219	43	3		3	C1orf131	1	231374738	5'Flank	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4085819	231374738	17875883	50	14048											
ARID4B	51742	genome.wustl.edu	37	chr1	235331925	235331925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acataacagcagctgttatgGaactggatgaaggtgaagag	15	8	13	5	0	0	3	0	2	0	1	0	5	0	5	0	3	4	3	0	3	5	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:235331925G>T	ENST00000264183.3	-	24	4351	c.3854C>A	c.(3853-3855)tCc>tAc	p.S1285Y	ARID4B_ENST00000349213.3_Missense_Mutation_p.S1199Y|ARID4B-IT1_ENST00000357671.6_RNA|ARID4B_ENST00000366603.2_Missense_Mutation_p.S1285Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1285	Ser-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AGCTGTTATGGAACTGGATGA	0.428																																																	0													103	85	91					1																	235331925		2203	4300	6503	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3854C>A	1.37:g.235331925G>T	ENSP00000264183:p.Ser1285Tyr		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1285Y	ENST00000264183.3	37	c.3854	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191708	0.58017	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.34667	1.35;1.6;1.6	4.96	4.96	0.65561	.	0.206550	0.43416	D	0.000575	T	0.52092	0.1713	L	0.38175	1.15	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.992;0.994	T	0.54529	-0.8280	10	0.72032	D	0.01	-4.9706	18.4402	0.90664	0.0:0.0:1.0:0.0	.	1199;1285	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	Y	1199;1285;1285	ENSP00000264184:S1199Y;ENSP00000355562:S1285Y;ENSP00000264183:S1285Y	ENSP00000264183:S1285Y	S	-	2	0	ARID4B	233398548	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.378000	0.90144	2.579000	0.87056	0.557000	0.71058	TCC	ARID4B	-	NULL	ENSG00000054267		0.428	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	-	0	33	0	G	NM_016374		235331925	-1	tier1	-	no_errors	ENST00000264183	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	235331925	G	T	235331925	3	4	57	1	0	0	0	0	1	0	0	0	920	1174	41	3	88	3	ARID4B	1	235331925	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3957187	235331925	13918696	51	14049											
LYST	1130	genome.wustl.edu	37	chr1	235918868	235918868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgaagatacaactggttgGctagcaaggaaaatccacga	16	7	11	7	1	0	2	0	1	0	1	1	5	1	3	1	3	3	3	1	3	7	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:235918868G>T	ENST00000389794.3	-	25	7313	c.7139C>A	c.(7138-7140)gCc>gAc	p.A2380D	LYST_ENST00000389793.2_Missense_Mutation_p.A2380D			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2380					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAACTGGTTGGCTAGCAAGGA	0.348																																																	0													176	178	177					1																	235918868		2203	4300	6503	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7139C>A	1.37:g.235918868G>T	ENSP00000374444:p.Ala2380Asp		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2380D	ENST00000389794.3	37	c.7139	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962355	0.92791	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.73897	-0.79;-0.79	5.3	5.3	0.74995	.	0.100672	0.64402	D	0.000002	D	0.86176	0.5870	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87465	0.2410	10	0.87932	D	0	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	2380	Q99698	LYST_HUMAN	D	2380	ENSP00000374444:A2380D;ENSP00000374443:A2380D	ENSP00000374443:A2380D	A	-	2	0	LYST	233985491	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.476000	0.97823	2.502000	0.84385	0.579000	0.79373	GCC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.348	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	43	0	G			235918868	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	235918868	G	T	235918868	3	4	57	1	0	0	0	0	1	0	0	0	9164	1203	42	3	4382	3	LYST	1	235918868	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	586943	235918868	13331753	52	14050											
RYR2	6262	genome.wustl.edu	37	chr1	237831225	237831225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaactaccataatatatggGcaaagaaaaagaaaatggag	23	6	8	4	0	0	2	0	0	0	2	0	3	0	3	1	2	2	1	1	2	11	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:237831225G>T	ENST00000366574.2	+	58	8874	c.8557G>T	c.(8557-8559)Gca>Tca	p.A2853S	RYR2_ENST00000542537.1_Missense_Mutation_p.A2837S|RYR2_ENST00000360064.6_Missense_Mutation_p.A2851S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2853	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAATATATGGGCAAAGAAAAA	0.294																																																	0													21	19	20					1																	237831225		1795	4042	5837	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8557G>T	1.37:g.237831225G>T	ENSP00000355533:p.Ala2853Ser		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A2851S	ENST00000366574.2	37	c.8551	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400223	0.83120	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.94576	-3.46;-3.46;-3.46	5.15	4.23	0.50019	Ryanodine receptor Ryr (1);	0.082630	0.46145	N	0.000308	D	0.96191	0.8758	M	0.72624	2.21	0.80722	D	1	D	0.56746	0.977	P	0.60286	0.872	D	0.96290	0.9213	10	0.72032	D	0.01	.	14.896	0.70644	0.0:0.0:0.8553:0.1447	.	2853	Q92736	RYR2_HUMAN	S	2853;2851;2837	ENSP00000355533:A2853S;ENSP00000353174:A2851S;ENSP00000443798:A2837S	ENSP00000353174:A2851S	A	+	1	0	RYR2	235897848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.834000	0.86773	1.139000	0.42245	-0.293000	0.09583	GCA	RYR2	-	pfam_Ryanodine_rcpt	ENSG00000198626		0.294	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	61	0	G	NM_001035		237831225	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T	T	237831225	G	T	237831225	3	4	57	1	0	0	0	0	1	0	0	0	13814	1203	42	3	8787	3	RYR2	1	237831225	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1912357	237831225	11419396	53	14051											
RYR2	6262	genome.wustl.edu	37	chr1	237991737	237991737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaacaagtcaaagaaGacatggaggtaagcttctcc	17	6	10	8	0	2	2	1	0	1	2	3	4	2	4	1	3	3	2	1	3	6	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:237991737G>T	ENST00000366574.2	+	102	14964	c.14647G>T	c.(14647-14649)Gac>Tac	p.D4883Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D4867Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D4889Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4883					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTCAAAGAAGACATGGAGGT	0.378																																																	0													102	104	104					1																	237991737		1875	4105	5980	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14647G>T	1.37:g.237991737G>T	ENSP00000355533:p.Asp4883Tyr		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.D4889Y	ENST00000366574.2	37	c.14665	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801785	0.90538	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.97505	-4.41;-4.38;-4.41	5.64	5.64	0.86602	.	0.000000	0.64402	U	0.000008	D	0.98795	0.9594	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99533	1.0961	10	0.87932	D	0	-19.8158	19.7167	0.96124	0.0:0.0:1.0:0.0	.	316;4883	F5H3C7;Q92736	.;RYR2_HUMAN	Y	4883;4889;4867;316	ENSP00000355533:D4883Y;ENSP00000353174:D4889Y;ENSP00000443798:D4867Y	ENSP00000353174:D4889Y	D	+	1	0	RYR2	236058360	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.813000	0.99286	2.667000	0.90743	0.655000	0.94253	GAC	RYR2	-	NULL	ENSG00000198626		0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	75	0	G	NM_001035		237991737	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T	T	237991737	G	T	237991737	3	4	57	1	0	0	0	0	1	0	0	0	13814	942	33	3	15053	3	RYR2	1	237991737	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	160512	237991737	11258884	54	14052											
FMN2	56776	genome.wustl.edu	37	chr1	240555817	240555817	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgcactttcagccaaaaTtgaccaagaggcagaggaaa	15	8	9	9	0	2	3	1	1	1	2	2	4	2	4	2	2	2	2	2	2	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr1:240555817T>G	ENST00000319653.9	+	15	5095	c.4865T>G	c.(4864-4866)aTt>aGt	p.I1622S	FMN2_ENST00000545751.1_Missense_Mutation_p.I218S	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1622	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAGCCAAAATTGACCAAGAG	0.333																																																	0													116	124	122					1																	240555817		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4865T>G	1.37:g.240555817T>G	ENSP00000318884:p.Ile1622Ser		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.I1622S	ENST00000319653.9	37	c.4865	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	T	2.937	-0.219726	0.06061	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.15834	2.39;2.39	5.47	4.35	0.52113	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.103901	0.39687	N	0.001291	T	0.12603	0.0306	L	0.40543	1.245	0.80722	D	1	B;B;B;B	0.20671	0.003;0.025;0.01;0.047	B;B;B;B	0.19391	0.006;0.025;0.014;0.023	T	0.08994	-1.0695	10	0.12103	T	0.63	.	8.8374	0.35119	0.0:0.0853:0.0:0.9147	.	218;237;251;1622	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	S	1622;218;249;98	ENSP00000318884:I1622S;ENSP00000437918:I218S	ENSP00000318884:I1622S	I	+	2	0	FMN2	238622440	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.411000	0.59781	0.922000	0.37019	0.528000	0.53228	ATT	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.333	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	47	0	T	XM_371352		240555817	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	G	G	240555817	T	G	240555817	3	3	57	1	0	0	0	0	1	0	0	0	5972	1493	52	4	4923	4	FMN2	1	240555817	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	2564080	240555817	8694804	55	14053											
ADAM17	6868	genome.wustl.edu	37	chr2	9676030	9676030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatctcttatgtgggctAgaaccctagagtcaggctca	10	11	9	11	0	4	2	3	0	1	2	5	2	4	2	1	2	1	2	1	2	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:9676030A>G	ENST00000310823.3	-	4	565	c.383T>C	c.(382-384)cTa>cCa	p.L128P	ADAM17_ENST00000497134.1_Missense_Mutation_p.L128P	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	128					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TATGTGGGCTAGAACCCTAGA	0.289																																																	0													54	54	54					2																	9676030		2203	4298	6501	SO:0001583	missense	0			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"ADAM metallopeptidase domain containing", "CD molecules"	195	protein-coding gene	gene with protein product		603639	"tumor necrosis factor, alpha, converting enzyme"	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.383T>C	2.37:g.9676030A>G	ENSP00000309968:p.Leu128Pro		O60226	Missense_Mutation	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.L128P	ENST00000310823.3	37	c.383	CCDS1665.1	2	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878057	0.51801	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	T;T	0.06218	3.33;3.33	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.141035	0.47852	D	0.000201	T	0.20981	0.0505	L	0.57536	1.79	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;0.984;1.0;0.984	D;P;D;P	0.77557	0.99;0.861;0.99;0.861	T	0.00516	-1.1694	10	0.36615	T	0.2	.	15.5928	0.76550	1.0:0.0:0.0:0.0	.	128;128;128;128	A8K1B4;B2RNB2;Q6P5T8;P78536	.;.;.;ADA17_HUMAN	P	128	ENSP00000309968:L128P;ENSP00000418728:L128P	ENSP00000309968:L128P	L	-	2	0	ADAM17	9593481	1.000000	0.71417	0.951000	0.38953	0.991000	0.79684	4.994000	0.63901	2.134000	0.65973	0.455000	0.32223	CTA	ADAM17	-	pfam_Peptidase_M12B_N	ENSG00000151694		0.289	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	-	0	42	0	A			9676030	-1	tier1	-	no_errors	ENST00000310823	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.990	G	G	9676030	A	G	9676030	3	3	57	1	0	0	0	0	1	0	0	0	238	420	15	4	2155	4	ADAM17	2	9676030	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09		9676030	233523343	56	14054											
DDX1	1653	genome.wustl.edu	37	chr2	15735282	15735282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagagatgggtgtaatGcctgagattgcacaagctgt	10	12	12	7	0	1	2	1	1	0	2	1	4	1	2	1	1	3	3	1	1	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:15735282G>T	ENST00000381341.2	+	3	419	c.30G>T	c.(28-30)atG>atT	p.M10I	DDX1_ENST00000233084.3_Missense_Mutation_p.M10I			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	10	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGGGTGTAATGCCTGAGATTG	0.328																																																	0													123	126	125					2																	15735282		2203	4300	6503	SO:0001583	missense	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.30G>T	2.37:g.15735282G>T	ENSP00000370745:p.Met10Ile		B4DME8|B4DPN6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.M10I	ENST00000381341.2	37	c.30	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584842	0.65992	.	.	ENSG00000079785	ENST00000381341;ENST00000434671;ENST00000233084;ENST00000543614	T;T	0.39229	1.09;1.09	6.17	6.17	0.99709	RNA helicase, DEAD-box type, Q motif (1);	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	N	0.24115	0.695	0.80722	D	1	B	0.19200	0.034	B	0.18561	0.022	T	0.07770	-1.0755	10	0.19590	T	0.45	-24.8419	19.6509	0.95805	0.0:0.0:1.0:0.0	.	10	Q92499	DDX1_HUMAN	I	10	ENSP00000370745:M10I;ENSP00000233084:M10I	ENSP00000233084:M10I	M	+	3	0	DDX1	15652733	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.158000	0.94723	2.941000	0.99782	0.655000	0.94253	ATG	DDX1	-	superfamily_P-loop_NTPase,pfscan_RNA_helicase_DEAD_Q_motif	ENSG00000079785		0.328	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2		0	32	0	G	NM_004939		15735282	1			no_errors	ENST00000233084	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	15735282	G	T	15735282	3	4	57	1	0	0	0	0	1	0	0	0	4350	1319	46	3	36	3	DDX1	2	15735282	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6059252	15735282	227464091	57	14055											
TMEM214	54867	genome.wustl.edu	37	chr2	27259589	27259589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtggctggggatcatGctgcctgtgctgggcatcaa	6	10	16	9	0	2	0	2	0	0	0	2	1	2	1	1	4	3	5	1	4	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:27259589G>A	ENST00000238788.9	+	7	905	c.843G>A	c.(841-843)atG>atA	p.M281I	TMEM214_ENST00000404032.3_Missense_Mutation_p.M236I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	281					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGGGATCATGCTGCCTGTGC	0.582																																																	0													113	119	117					2																	27259589		2072	4216	6288	SO:0001583	missense	0				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.843G>A	2.37:g.27259589G>A	ENSP00000238788:p.Met281Ile		A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	pfam_DUF2359_TMEM214	p.M281I	ENST00000238788.9	37	c.843	CCDS42664.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.124907|5.124907	0.94429|0.94429	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000425720|ENST00000238788;ENST00000404032;ENST00000537397	.|T;T	.|0.56275	.|0.47;0.47	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73636|0.73636	0.3612|0.3612	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.996	.|D;D	.|0.67725	.|0.944;0.953	T|T	0.75221|0.75221	-0.3394|-0.3394	5|10	.|0.56958	.|D	.|0.05	-27.1755|-27.1755	19.1973|19.1973	0.93695|0.93695	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|236;281	.|Q6NUQ4-2;Q6NUQ4	.|.;TM214_HUMAN	Y|I	40|281;236;23	.|ENSP00000238788:M281I;ENSP00000384417:M236I	.|ENSP00000238788:M281I	C|M	+|+	2|3	0|0	TMEM214|TMEM214	27113093|27113093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.780000|7.780000	0.85658|0.85658	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	TGC|ATG	TMEM214	-	pfam_DUF2359_TMEM214	ENSG00000119777		0.582	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	-	0	53	0	G	NM_017727		27259589	1	tier1	-	no_errors	ENST00000238788	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	27259589	G	A	27259589	3	1	57	1	0	0	0	0	1	0	0	0	16184	1319	46	3	869	3	TMEM214	2	27259589	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11524307	27259589	215939784	58	14056											
FAM179A	165186	genome.wustl.edu	37	chr2	29255902	29255902	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgcagaaggtcatggcGgccattaaacagcaggtgag	12	7	14	8	1	1	2	1	1	0	1	1	3	1	2	1	4	3	2	1	4	3	2	rs376264991		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:29255902G>T	ENST00000379558.4	+	15	2466	c.2115G>T	c.(2113-2115)gcG>gcT	p.A705A	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.A650A	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	705										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGTCATGGCGGCCATTAAAC	0.517																																																	0													79	73	75					2																	29255902		1997	4200	6197	SO:0001819	synonymous_variant	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2115G>T	2.37:g.29255902G>T			Q6ZUF5	Silent	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.A705	ENST00000379558.4	37	c.2115	CCDS1769.2	2																																																																																			FAM179A	-	superfamily_ARM-type_fold	ENSG00000189350		0.517	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0	95	0	G	NM_199280		29255902	1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.002	T	T	29255902	G	T	29255902	2	4	57	1	0	0	0	0	0	0	0	1	5524	1103	39	2		2	FAM179A	2	29255902	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1996313	29255902	213943471	59	14057											
C2orf71	388939	genome.wustl.edu	37	chr2	29295619	29295619	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttttttcctgccaggcAcacagactcatgctgctcat	8	12	9	12	0	2	1	2	0	0	1	3	2	3	2	2	2	3	4	2	2	0	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:29295619A>C	ENST00000331664.5	-	1	1508	c.1509T>G	c.(1507-1509)tgT>tgG	p.C503W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	503					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CCTGCCAGGCACACAGACTCA	0.562																																																	0													85	88	87					2																	29295619		2104	4223	6327	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1509T>G	2.37:g.29295619A>C	ENSP00000332809:p.Cys503Trp			Missense_Mutation	SNP	NULL	p.C503W	ENST00000331664.5	37	c.1509	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624095	0.28889	.	.	ENSG00000179270	ENST00000331664	T	0.19532	2.14	4.67	-6.53	0.01866	.	0.938103	0.09071	N	0.852835	T	0.16854	0.0405	L	0.51422	1.61	0.09310	N	1	P	0.50272	0.933	B	0.42386	0.386	T	0.08953	-1.0697	10	0.37606	T	0.19	1.8616	9.3825	0.38322	0.3865:0.0:0.5023:0.1111	.	503	A6NGG8	CB071_HUMAN	W	503	ENSP00000332809:C503W	ENSP00000332809:C503W	C	-	3	2	C2orf71	29149123	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.976000	0.03786	-1.340000	0.02227	0.459000	0.35465	TGT	C2orf71	-	NULL	ENSG00000179270		0.562	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	-	0	129	0	A	NM_001029883		29295619	-1	tier1	-	no_errors	ENST00000331664	ensembl	human	known	74_37	missense	19.10	72	17	SNP	0.000	C	C	29295619	A	C	29295619	3	2	57	1	0	0	0	0	1	0	0	0	2198	157	6	4	2365	4	C2orf71	2	29295619	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	39717	29295619	213903754	60	14058											
CRIM1	51232	genome.wustl.edu	37	chr2	36704130	36704130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgatgccaagggggcgttGccatctgcttcaccgcccag	6	8	13	14	3	2	0	1	0	1	0	3	1	2	0	4	2	3	2	4	2	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:36704130G>T	ENST00000280527.2	+	6	1457	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	364	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGGGGGCGTTGCCATCTGCTT	0.498																																																	0													134	121	125					2																	36704130		2203	4300	6503	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1090G>T	2.37:g.36704130G>T	ENSP00000280527:p.Ala364Ser		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.A364S	ENST00000280527.2	37	c.1090	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893471	0.33442	.	.	ENSG00000150938	ENST00000280527	T	0.72167	-0.63	5.93	2.15	0.27550	von Willebrand factor, type C (4);	0.113761	0.64402	N	0.000008	T	0.47040	0.1424	N	0.03948	-0.315	0.26800	N	0.969213	B	0.02656	0.0	B	0.06405	0.002	T	0.38023	-0.9680	10	0.46703	T	0.11	-14.5998	13.575	0.61868	0.0:0.0:0.461:0.539	.	364	Q9NZV1	CRIM1_HUMAN	S	364	ENSP00000280527:A364S	ENSP00000280527:A364S	A	+	1	0	CRIM1	36557634	0.998000	0.40836	0.396000	0.26296	0.955000	0.61496	2.746000	0.47467	0.103000	0.17682	-0.262000	0.10625	GCC	CRIM1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000150938		0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	-	0	72	0	G	NM_016441		36704130	1	tier1	-	no_errors	ENST00000280527	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.979	T	T	36704130	G	T	36704130	3	4	57	1	0	0	0	0	1	0	0	0	3880	1319	46	3	1112	3	CRIM1	2	36704130	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7408511	36704130	206495243	61	14059											
MTIF2	4528	genome.wustl.edu	37	chr2	55464537	55464537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcccttctgttacaGagaaggtagctagtatagat	10	16	8	7	0	2	2	0	0	2	2	3	3	3	2	1	1	2	4	1	1	6	9			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:55464537G>T	ENST00000263629.4	-	15	2213	c.1898C>A	c.(1897-1899)tCt>tAt	p.S633Y	MTIF2_ENST00000403721.1_Missense_Mutation_p.S633Y|MTIF2_ENST00000394600.3_Missense_Mutation_p.S633Y	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	633					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTCTGTTACAGAGAAGGTAGC	0.363																																																	0													71	69	70					2																	55464537		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1898C>A	2.37:g.55464537G>T	ENSP00000263629:p.Ser633Tyr		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.S633Y	ENST00000263629.4	37	c.1898	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	G	1.310	-0.602342	0.03744	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600	T;T;T	0.58940	0.3;0.3;0.3	5.35	3.52	0.40303	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.389936	0.29508	N	0.011951	T	0.57066	0.2028	M	0.84511	2.7	0.29168	N	0.877327	B	0.10296	0.003	B	0.10450	0.005	T	0.60047	-0.7339	10	0.72032	D	0.01	-3.6299	5.4633	0.16630	0.1509:0.0:0.5763:0.2728	.	633	P46199	IF2M_HUMAN	Y	633	ENSP00000384481:S633Y;ENSP00000263629:S633Y;ENSP00000378099:S633Y	ENSP00000263629:S633Y	S	-	2	0	MTIF2	55318041	0.758000	0.28405	0.951000	0.38953	0.842000	0.47809	0.122000	0.15687	1.382000	0.46385	0.557000	0.71058	TCT	MTIF2	-	superfamily_Transl_B-barrel	ENSG00000085760		0.363	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4		0	34	0	G	NM_002453		55464537	-1			no_errors	ENST00000263629	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.990	T	T	55464537	G	T	55464537	3	4	57	1	0	0	0	0	1	0	0	0	9972	942	33	3	293	3	MTIF2	2	55464537	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	18760407	55464537	187734836	62	14060											
VRK2	7444	genome.wustl.edu	37	chr2	58358982	58358982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttgagatcctcggctactGcatgctgcggtggttgtgtg	4	13	15	9	3	0	1	0	1	0	1	2	2	1	1	1	3	4	5	1	3	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:58358982G>T	ENST00000435505.2	+	12	1461	c.716G>T	c.(715-717)tGc>tTc	p.C239F	VRK2_ENST00000417641.2_Missense_Mutation_p.C239F|VRK2_ENST00000340157.4_Missense_Mutation_p.C239F|VRK2_ENST00000412104.2_Missense_Mutation_p.C239F|VRK2_ENST00000440705.2_Missense_Mutation_p.C216F			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CTCGGCTACTGCATGCTGCGG	0.458																																																	0													142	125	130					2																	58358982		2203	4300	6503	SO:0001583	missense	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.716G>T	2.37:g.58358982G>T	ENSP00000408002:p.Cys239Phe		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.C239F	ENST00000435505.2	37	c.716	CCDS1859.1	2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673031	0.88445	.	.	ENSG00000028116	ENST00000435505;ENST00000417641;ENST00000423109;ENST00000412104;ENST00000340157;ENST00000394539;ENST00000440705	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.87038	2.855	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.994;0.998;0.993;0.996	T	0.04203	-1.0969	10	0.72032	D	0.01	-12.4301	20.6593	0.99626	0.0:0.0:1.0:0.0	.	243;239;239;239	B7Z2X1;Q86Y07-2;Q86Y07-5;Q86Y07	.;.;.;VRK2_HUMAN	F	239;239;243;239;239;239;216	ENSP00000408002:C239F;ENSP00000402375:C239F;ENSP00000404156:C239F;ENSP00000342381:C239F;ENSP00000398323:C216F	ENSP00000342381:C239F	C	+	2	0	VRK2	58212486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	TGC	VRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000028116		0.458	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2		0	55	0	G	NM_006296		58358982	1			no_errors	ENST00000340157	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	58358982	G	T	58358982	3	4	57	1	0	0	0	0	1	0	0	0	17269	1319	46	3	746	3	VRK2	2	58358982	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2894445	58358982	184840391	63	14061											
PAPOLG	64895	genome.wustl.edu	37	chr2	61014108	61014108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtagaatctaaaatccGtgtacttgttggaaacttgg	13	14	9	5	1	1	1	0	0	1	1	2	2	2	2	1	2	2	3	1	2	7	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:61014108G>T	ENST00000238714.3	+	14	1442	c.1193G>T	c.(1192-1194)cGt>cTt	p.R398L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	398		Interaction with RNA. {ECO:0000250}.			mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TCTAAAATCCGTGTACTTGTT	0.343																																					GBM(183;1497 2932 21839 46797)												0													161	163	162					2																	61014108		2203	4300	6503	SO:0001583	missense	0			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1193G>T	2.37:g.61014108G>T	ENSP00000238714:p.Arg398Leu		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.R398L	ENST00000238714.3	37	c.1193	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.302164	0.95601	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.36	5.36	0.76844	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.86632	0.5979	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.994;0.996	D	0.89511	0.3771	9	0.87932	D	0	-34.167	19.0542	0.93056	0.0:0.0:1.0:0.0	.	87;398	E9PEP5;Q9BWT3	.;PAPOG_HUMAN	L	398;87;66	.	ENSP00000238714:R398L	R	+	2	0	PAPOLG	60867612	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.601000	0.98297	2.656000	0.90262	0.655000	0.94253	CGT	PAPOLG	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	ENSG00000115421		0.343	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3		0	28	0	G	NM_022894		61014108	1			no_errors	ENST00000238714	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	61014108	G	T	61014108	3	4	57	1	0	0	0	0	1	0	0	0	11470	1145	40	2	1247	2	PAPOLG	2	61014108	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2655126	61014108	182185265	64	14062											
ACTG2	72	genome.wustl.edu	37	chr2	74128470	74128470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccaccgcgctcgtgtGtgacaatggctctggcctgt	6	9	14	12	3	1	2	0	1	1	1	2	3	1	2	3	3	0	2	3	3	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:74128470G>T	ENST00000409624.1	+	3	675	c.32G>T	c.(31-33)tGt>tTt	p.C11F	ACTG2_ENST00000345517.3_Missense_Mutation_p.C11F|ACTG2_ENST00000409731.3_Missense_Mutation_p.C11F|ACTG2_ENST00000409918.1_Missense_Mutation_p.C11F			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	11					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						GCGCTCGTGTGTGACAATGGC	0.622																																																	0													71	62	65					2																	74128470		2203	4300	6503	SO:0001583	missense	0				CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.32G>T	2.37:g.74128470G>T	ENSP00000386857:p.Cys11Phe		B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.C11F	ENST00000409624.1	37	c.32	CCDS1930.1	2	.	.	.	.	.	.	.	.	.	.	G	13.61	2.287549	0.40494	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D;D	0.96940	-4.18;-4.18;-3.4;-3.4;-4.18	3.93	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.96993	0.9018	L	0.48642	1.525	0.54753	D	0.999983	B;D;B	0.71674	0.0;0.998;0.002	B;D;B	0.87578	0.003;0.998;0.339	D	0.97625	1.0138	10	0.87932	D	0	.	15.2323	0.73401	0.0:0.0:1.0:0.0	.	11;11;11	E9PG30;B8ZZJ2;P63267	.;.;ACTH_HUMAN	F	11	ENSP00000386929:C11F;ENSP00000295137:C11F;ENSP00000387182:C11F;ENSP00000410020:C11F;ENSP00000386857:C11F	ENSP00000295137:C11F	C	+	2	0	ACTG2	73981978	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	6.361000	0.73070	2.199000	0.70637	0.305000	0.20034	TGT	ACTG2	-	pfam_Actin-related,smart_Actin-related	ENSG00000163017		0.622	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG2	HGNC	protein_coding	OTTHUMT00000328086.1	-	0	50	0	G	NM_001615		74128470	1	tier1	-	no_errors	ENST00000345517	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	74128470	G	T	74128470	3	4	57	1	0	0	0	0	1	0	0	0	197	1377	48	3	34	3	ACTG2	2	74128470	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13114362	74128470	169070903	65	14063											
MTHFD2	10797	genome.wustl.edu	37	chr2	74432845	74432845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagaaatgaagctgttGtcatttctggaaggaaactg	12	12	11	6	0	3	2	1	1	2	1	3	4	3	4	0	2	3	3	0	2	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:74432845G>T	ENST00000394053.2	+	2	195	c.115G>T	c.(115-117)Gtc>Ttc	p.V39F	MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.V39F|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.V39F	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	39					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)	p.V39F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TGAAGCTGTTGTCATTTCTGG	0.468																																																	1	Substitution - Missense(1)	urinary_tract(1)											47	48	48					2																	74432845		1887	4116	6003	SO:0001583	missense	0			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.115G>T	2.37:g.74432845G>T	ENSP00000377617:p.Val39Phe		Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.V39F	ENST00000394053.2	37	c.115	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309738	0.40895	.	.	ENSG00000065911	ENST00000394053;ENST00000409804;ENST00000409601	T;T;T	0.52057	1.66;0.68;1.65	4.73	1.95	0.26073	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.133347	0.52532	D	0.000080	T	0.59252	0.2180	M	0.80508	2.5	0.80722	D	1	P;P	0.50528	0.936;0.872	P;P	0.54590	0.756;0.691	T	0.59963	-0.7355	10	0.87932	D	0	.	8.4764	0.33016	0.2622:0.0:0.7378:0.0	.	39;39	B8ZZU9;P13995	.;MTDC_HUMAN	F	39	ENSP00000377617:V39F;ENSP00000386536:V39F;ENSP00000386542:V39F	ENSP00000377617:V39F	V	+	1	0	MTHFD2	74286353	0.993000	0.37304	0.872000	0.34217	0.300000	0.27592	2.135000	0.42112	0.182000	0.20032	-0.136000	0.14681	GTC	MTHFD2	-	pfam_THF_DH/CycHdrlase_cat_dom	ENSG00000065911		0.468	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2		0	47	0	G			74432845	1			no_errors	ENST00000394053	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.757	T	T	74432845	G	T	74432845	3	4	57	1	0	0	0	0	1	0	0	0	9967	1377	48	3	121	3	MTHFD2	2	74432845	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	304375	74432845	168766528	66	14064											
CTNNA2	1496	genome.wustl.edu	37	chr2	80816505	80816505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattccatcaagagaaaaGcaagctggatgcagaagtgg	16	7	12	6	0	1	2	1	0	0	2	2	5	2	3	1	2	3	3	1	2	6	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:80816505G>C	ENST00000402739.4	+	14	2089	c.2084G>C	c.(2083-2085)aGc>aCc	p.S695T	CTNNA2_ENST00000466387.1_Missense_Mutation_p.S695T|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S374T|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000595478.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S695T|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S695T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S729T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S695T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	695					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGAGAAAAGCAAGCTGGAT	0.483																																																	0													112	122	118					2																	80816505		2200	4300	6500	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2084G>C	2.37:g.80816505G>C	ENSP00000384638:p.Ser695Thr		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S729T	ENST00000402739.4	37	c.2186		2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403618	0.42613	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.97	5.09	0.68999	.	0.131452	0.64402	D	0.000002	T	0.35711	0.0941	L	0.52364	1.645	0.80722	D	1	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.16722	0.005;0.016;0.007;0.007	T	0.09729	-1.0661	9	.	.	.	.	17.1998	0.86902	0.0:0.1261:0.8739:0.0	.	327;695;695;695	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	T	695;695;729;695;695;695;374	ENSP00000418191:S695T;ENSP00000419295:S695T;ENSP00000355398:S729T;ENSP00000384638:S695T;ENSP00000444675:S695T;ENSP00000441705:S695T;ENSP00000341500:S374T	.	S	+	2	0	CTNNA2	80670016	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.623000	0.98386	1.513000	0.48852	0.655000	0.94253	AGC	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.483	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0	62	0	G	NM_004389		80816505	1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	C	C	80816505	G	C	80816505	3	2	57	1	0	0	0	0	1	0	0	0	4022	971	34	5	1930	5	CTNNA2	2	80816505	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6383660	80816505	162382868	67	14065											
POLR1A	25885	genome.wustl.edu	37	chr2	86258678	86258678	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcgagcaccttccctgtgGggatttcgttcctcctgcat	4	15	9	13	2	0	0	0	0	0	0	5	2	3	1	4	2	2	3	4	2	0	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:86258678G>T	ENST00000263857.6	-	30	4731	c.4353C>A	c.(4351-4353)ccC>ccA	p.P1451P	POLR1A_ENST00000409681.1_Silent_p.P1451P			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1451					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTTCCCTGTGGGGATTTCGTt	0.582																																																	0													164	167	166					2																	86258678		2128	4229	6357	SO:0001819	synonymous_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4353C>A	2.37:g.86258678G>T			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.P1451	ENST00000263857.6	37	c.4353	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_Rpb1_5	ENSG00000068654		0.582	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2		0	195	0	G	NM_015425		86258678	-1			no_errors	ENST00000263857	ensembl	human	known	74_37	silent	5.15	92	5	SNP	0.000	T	T	86258678	G	T	86258678	2	4	57	1	0	0	0	0	0	0	0	1	12248	1219	43	3		3	POLR1A	2	86258678	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5442173	86258678	156940695	68	14066											
MRPS5	64969	genome.wustl.edu	37	chr2	95766223	95766223	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagttttaaagttacctttGggttgtttcttcatcttgat	8	20	8	5	0	3	2	1	1	2	1	3	2	3	2	1	1	1	4	1	1	3	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:95766223G>T	ENST00000272418.2	-	10	1135	c.927C>A	c.(925-927)ccC>ccA	p.P309P		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	309					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						AGTTACCTTTGGGTTGTTTCT	0.328																																																	0													156	164	161					2																	95766223		2203	4299	6502	SO:0001819	synonymous_variant	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"Mitochondrial ribosomal proteins / small subunits"	14498	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S5"	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.927C>A	2.37:g.95766223G>T			Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Silent	SNP	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.P309	ENST00000272418.2	37	c.927	CCDS2010.1	2																																																																																			MRPS5	-	pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000144029		0.328	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	-	0	56	0	G	NM_031902		95766223	-1	tier1	-	no_errors	ENST00000272418	ensembl	human	known	74_37	silent	6.58	71	5	SNP	1.000	T	T	95766223	G	T	95766223	2	4	57	1	0	0	0	0	0	0	0	1	9884	1335	47	3		3	MRPS5	2	95766223	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9507545	95766223	147433150	69	14067											
EN1	2019	genome.wustl.edu	37	chr2	119600699	119600699	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccagggtctgccgccGctgctccgtgatgtagcggt	3	9	16	13	4	1	1	0	1	1	0	2	1	2	1	4	3	3	3	4	3	1	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:119600699G>T	ENST00000295206.6	-	2	1504	c.994C>A	c.(994-996)Cgg>Agg	p.R332R	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	332					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTCTGCCGCCGCTGCTCCGTG	0.607																																																	0													52	48	49					2																	119600699		2203	4300	6503	SO:0001819	synonymous_variant	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.994C>A	2.37:g.119600699G>T			Q4ZG44	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.R332	ENST00000295206.6	37	c.994	CCDS2123.1	2																																																																																			EN1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000163064		0.607	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3		0	69	0	G			119600699	-1			no_errors	ENST00000295206	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	T	T	119600699	G	T	119600699	2	4	57	1	0	0	0	0	0	0	0	1	5125	1086	38	2		2	EN1	2	119600699	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	23834476	119600699	123598674	70	14068											
ZRANB3	84083	genome.wustl.edu	37	chr2	135965365	135965365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcctggactgtgtatGgatttagaaatgggacacag	11	11	13	6	0	1	1	0	0	1	1	1	5	1	4	1	3	1	1	1	3	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:135965365G>T	ENST00000264159.6	-	19	2764	c.2648C>A	c.(2647-2649)cCa>cAa	p.P883Q	ZRANB3_ENST00000401392.1_Missense_Mutation_p.P881Q|ZRANB3_ENST00000536680.1_Missense_Mutation_p.P881Q|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	883					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGTGTATGGATTTAGAAA	0.393																																																	0													82	76	78					2																	135965365		1920	4137	6057	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2648C>A	2.37:g.135965365G>T	ENSP00000264159:p.Pro883Gln		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P883Q	ENST00000264159.6	37	c.2648	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980882	0.34942	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90676	-2.71;-2.71;-2.7	5.49	4.57	0.56435	.	0.418829	0.27415	N	0.019465	D	0.89019	0.6596	M	0.67953	2.075	0.09310	N	1	P;P	0.49961	0.93;0.928	B;P	0.44860	0.289;0.462	D	0.84001	0.0343	10	0.56958	D	0.05	-14.5375	8.8266	0.35059	0.1088:0.1497:0.7415:0.0	.	883;881	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Q	346;346;881;883;881	ENSP00000383979:P881Q;ENSP00000264159:P883Q;ENSP00000441320:P881Q	ENSP00000264159:P883Q	P	-	2	0	ZRANB3	135681835	0.973000	0.33851	0.420000	0.26596	0.008000	0.06430	2.703000	0.47110	2.752000	0.94435	0.655000	0.94253	CCA	ZRANB3	-	NULL	ENSG00000121988		0.393	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	-	0	34	0	G	NM_032143		135965365	-1	tier1	-	no_errors	ENST00000264159	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.014	T	T	135965365	G	T	135965365	3	4	57	1	0	0	0	0	1	0	0	0	18272	1348	47	3	603	3	ZRANB3	2	135965365	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	16364666	135965365	107234008	71	14069											
NEB	4703	genome.wustl.edu	37	chr2	152550851	152550851	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacatcactctggttttTggccaccttcaaggagtgca	9	12	8	12	0	4	0	3	0	1	0	4	1	4	1	2	3	1	2	2	3	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:152550851T>G	ENST00000172853.10	-	20	2029	c.1882A>C	c.(1882-1884)Aaa>Caa	p.K628Q	NEB_ENST00000397345.3_Missense_Mutation_p.K628Q|NEB_ENST00000604864.1_Missense_Mutation_p.K628Q|NEB_ENST00000603639.1_Missense_Mutation_p.K628Q|NEB_ENST00000409198.1_Missense_Mutation_p.K628Q|NEB_ENST00000427231.2_Missense_Mutation_p.K628Q			P20929	NEBU_HUMAN	nebulin	628					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTGGTTTTTGGCCACCTTC	0.413																																																	0													258	240	246					2																	152550851		1903	4123	6026	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1882A>C	2.37:g.152550851T>G	ENSP00000172853:p.Lys628Gln		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K628Q	ENST00000172853.10	37	c.1882		2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941506	0.73557	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.9	4.72	0.59763	.	0.171458	0.41823	N	0.000818	T	0.61553	0.2356	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	1.0;0.991	D;D	0.87578	0.998;0.909	T	0.60551	-0.7241	10	0.48119	T	0.1	.	11.0099	0.47657	0.0:0.0:0.1561:0.8439	.	261;628	Q86TG3;P20929	.;NEBU_HUMAN	Q	628	ENSP00000386259:K628Q;ENSP00000380505:K628Q;ENSP00000416578:K628Q;ENSP00000172853:K628Q	ENSP00000172853:K628Q	K	-	1	0	NEB	152259097	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.672000	0.61597	1.016000	0.39470	0.533000	0.62120	AAA	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.413	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	49	0	T	NM_004543		152550851	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	18.00	41	9	SNP	1.000	G	G	152550851	T	G	152550851	3	3	57	1	0	0	0	0	1	0	0	0	10341	1821	63	4	24456	4	NEB	2	152550851	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	16585486	152550851	90648522	72	14070											
IFIH1	64135	genome.wustl.edu	37	chr2	163134715	163134716	+	Splice_Site	INS	-	-	T																															aggtccaaacctaaattaccINSttttttttccatttgaatgg																								rs150760072|rs553669430	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:163134715_163134716insT	ENST00000263642.2	-	9	2159_2160	c.1764_1765insA	c.(1762-1767)aaagct>aaaAgct	p.A589fs		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	589					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTAAATTACCTTTTTTTTCCA	0.327													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	8	0.00159744	0.0061	0	5008	,	,		18131	0		0	False		,,,				2504	0																0										25,4239		0,25,2107						5.7	1			121	5,8247		0,5,4121	no	frameshift-near-splice	IFIH1	NM_022168.2		0,30,6228	A1A1,A1R,RR		0.0606,0.5863,0.2397				30,12486				SO:0001630	splice_region_variant	0			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1765+1->A	2.37:g.163134723_163134723dupT			Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Frame_Shift_Ins	INS	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A588fs	ENST00000263642.2	37	c.1765_1764	CCDS2217.1	2																																																																																			IFIH1	-	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	ENSG00000115267		0.327	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2		0	61	0	-	NM_022168	Frame_Shift_Ins	163134716	-1	tier1		no_errors	ENST00000263642	ensembl	human	known	74_37	frame_shift_ins	34.83	58	31	INS	1.000:1.000	T	T	163134716	-	T	163134715	8	5	57	1	0	1	1	0	0	0	1	0	7547	695	24	0	1344	0	IFIH1	2	163134715	Splice_Site	INS	-	TCGA-L5-A4OH-01A-11D-A27G-09	10583864	163134715	80064658	73	14071											
NOSTRIN	115677	genome.wustl.edu	37	chr2	169716090	169716090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgttagcagaacttgaGcaaagacctcaacccagcca	15	7	7	12	0	2	3	2	1	0	2	2	3	2	3	3	0	5	3	3	0	5	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:169716090G>T	ENST00000317647.7	+	13	1351	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E296D|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E431D|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.E431D|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E346D|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E296D|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E346D	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	374					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAGAACTTGAGCAAAGACCTC	0.418																																																	0													142	134	137					2																	169716090		1902	4130	6032	SO:0001583	missense	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"nitric oxide synthase trafficker"			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1122G>T	2.37:g.169716090G>T	ENSP00000318921:p.Glu374Asp		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.E431D	ENST00000317647.7	37	c.1293	CCDS42771.1	2	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730009	0.48939	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.39787	1.18;1.18;1.06;1.26;1.26;1.26;1.26	5.3	5.3	0.74995	.	0.108515	0.64402	D	0.000011	T	0.33760	0.0874	L	0.40543	1.245	0.80722	D	1	B;P;B;B;B;B	0.42456	0.197;0.78;0.073;0.153;0.073;0.182	B;B;B;B;B;B	0.40982	0.09;0.345;0.027;0.057;0.023;0.113	T	0.04635	-1.0937	10	0.29301	T	0.29	-2.4406	10.2773	0.43519	0.0906:0.0:0.9094:0.0	.	346;296;431;268;374;431	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	D	431;431;374;296;296;346;346	ENSP00000402140:E431D;ENSP00000394051:E431D;ENSP00000318921:E374D;ENSP00000404413:E296D;ENSP00000380390:E296D;ENSP00000380392:E346D;ENSP00000401316:E346D	ENSP00000318921:E374D	E	+	3	2	NOSTRIN	169424336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.833000	0.39161	2.630000	0.89119	0.655000	0.94253	GAG	NOSTRIN	-	NULL	ENSG00000163072		0.418	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	-	0	86	0	G	NM_052946		169716090	1	tier1	-	no_errors	ENST00000444448	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	169716090	G	T	169716090	3	4	57	1	0	0	0	0	1	0	0	0	10585	962	34	3	1347	3	NOSTRIN	2	169716090	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6581375	169716090	73483283	74	14072											
PRKRA	8575	genome.wustl.edu	37	chr2	179301047	179301047	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgtcctactacatttgtCtgaaaaacagagatgaagat	16	11	8	6	0	1	4	0	2	1	2	2	6	2	4	1	0	3	0	1	0	6	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:179301047C>T	ENST00000325748.4	-	7	810		c.e7-1		AC009948.5_ENST00000453026.2_RNA|PRKRA_ENST00000487082.1_Splice_Site|AC009948.5_ENST00000454488.1_RNA|AC009948.5_ENST00000436616.2_RNA|PRKRA_ENST00000438687.3_Splice_Site|PRKRA_ENST00000432031.2_Splice_Site	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator						cellular response to oxidative stress (GO:0034599)|gene expression (GO:0010467)|immune response (GO:0006955)|middle ear morphogenesis (GO:0042474)|negative regulation of cell proliferation (GO:0008285)|outer ear morphogenesis (GO:0042473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|production of siRNA involved in RNA interference (GO:0030422)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	enzyme activator activity (GO:0008047)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CTACATTTGTCTGAAAAACAG	0.368																																					Melanoma(200;68 3001 23825 48764)												0													93	99	97					2																	179301047		2203	4299	6502	SO:0001630	splice_region_variant	0			AF072860	CCDS2279.1, CCDS46460.1, CCDS46461.1	2q31.2	2009-08-25			ENSG00000180228	ENSG00000180228			9438	protein-coding gene	gene with protein product	"protein activator of the interferon-induced protein kinase"	603424				9687506, 10336432	Standard	NM_003690		Approved	PACT, RAX, HSD14, DYT16	uc002umf.3	O75569	OTTHUMG00000132576	ENST00000325748.4:c.610-1G>A	2.37:g.179301047C>T			A8K3I6|Q53G24|Q6X7T5|Q8NDK4	Splice_Site	SNP	-	e7-1	ENST00000325748.4	37	c.610-1	CCDS2279.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135551	0.77662	.	.	ENSG00000180228	ENST00000325748;ENST00000438687;ENST00000487082;ENST00000432031	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5217	0.75871	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKRA	179009293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.350000	0.52224	2.735000	0.93741	0.650000	0.86243	.	PRKRA	-	-	ENSG00000180228		0.368	PRKRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRA	HGNC	protein_coding	OTTHUMT00000255782.2		0	29	0	C	NM_003690	Intron	179301047	-1			no_errors	ENST00000325748	ensembl	human	known	74_37	splice_site	16.67	25	5	SNP	1.000	T	T	179301047	C	T	179301047	5	4	57	1	0	0	0	0	0	0	1	0	12566	927	32	3	340	3	PRKRA	2	179301047	Splice_Site	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	9584957	179301047	63898326	75	14073											
TTN	7273	genome.wustl.edu	37	chr2	179440132	179440132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgggtccactggtcaGagccttttctttgggcttca	5	15	12	9	0	3	2	2	1	1	1	4	2	4	2	2	3	1	1	2	3	0	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:179440132G>T	ENST00000591111.1	-	276	66028	c.65804C>A	c.(65803-65805)tCt>tAt	p.S21935Y	TTN_ENST00000342175.6_Missense_Mutation_p.S14703Y|TTN_ENST00000460472.2_Missense_Mutation_p.S14511Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21008Y|TTN_ENST00000589042.1_Missense_Mutation_p.S23576Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14636Y|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21935	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACTGGTCAGAGCCTTTTCT	0.488																																																	0													132	128	129					2																	179440132		2009	4197	6206	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65804C>A	2.37:g.179440132G>T	ENSP00000465570:p.Ser21935Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S21008Y	ENST00000591111.1	37	c.63023		2	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764645	0.31228	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76737	0.4029	M	0.91300	3.195	0.45330	D	0.998328	D;D;D;D	0.71674	0.996;0.996;0.996;0.998	P;P;P;P	0.62491	0.82;0.82;0.82;0.903	T	0.82281	-0.0535	9	0.87932	D	0	.	16.6287	0.84993	0.0:0.1296:0.8703:0.0	.	14511;14636;14703;21935	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	21008;14511;14703;14636;14509	ENSP00000343764:S21008Y;ENSP00000434586:S14511Y;ENSP00000340554:S14703Y;ENSP00000352154:S14636Y	ENSP00000340554:S14703Y	S	-	2	0	TTN	179148378	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	7.946000	0.87746	2.651000	0.90000	0.585000	0.79938	TCT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	63	0	G	NM_133378		179440132	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	179440132	G	T	179440132	3	4	57	1	0	0	0	0	1	0	0	0	16784	942	33	3	37400	3	TTN	2	179440132	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	139085	179440132	63759241	76	14074											
COL3A1	1281	genome.wustl.edu	37	chr2	189860905	189860905	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggaaaccagggcctcccGtatgtacatttttaaaatct	12	12	8	9	1	1	0	0	0	1	0	2	1	2	1	3	2	2	2	3	2	5	5	rs587779537|rs587779535		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:189860905G>A	ENST00000304636.3	+	23	1832		c.e23+1		COL3A1_ENST00000317840.5_Splice_Site	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1						aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGGCCTCCCGTATGTACATT	0.393																																																	0			GRCh37	CS000451	COL3A1	S							57	65	63					2																	189860905		2203	4300	6503	SO:0001630	splice_region_variant	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1662+1G>A	2.37:g.189860905G>A			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Splice_Site	SNP	-	e23+1	ENST00000304636.3	37	c.1662+1	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.338453	0.95783	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6339	0.95722	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL3A1	189569150	1.000000	0.71417	0.293000	0.24932	0.959000	0.62525	8.319000	0.89992	2.642000	0.89623	0.462000	0.41574	.	COL3A1	-	-	ENSG00000168542		0.393	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0	44	0	G	NM_000090	Intron	189860905	1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	splice_site	17.39	38	8	SNP	0.995	A	A	189860905	G	A	189860905	5	1	57	1	0	0	0	0	0	0	1	0	3695	1159	40	1	1753	1	COL3A1	2	189860905	Splice_Site	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	10420773	189860905	53338468	77	14075											
SDPR	8436	genome.wustl.edu	37	chr2	192700728	192700728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcctcggatgttagcGcgtagctaccctcatagcgt	6	10	10	15	5	1	0	1	0	0	0	3	1	2	1	4	1	4	3	4	1	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:192700728G>A	ENST00000304141.4	-	2	1528	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GGATGTTAGCGCGTAGCTACC	0.607																																																	0													87	81	83					2																	192700728		2203	4300	6503	SO:0001583	missense	0			AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"phosphatidylserine binding protein"	606728	"serum deprivation response (phosphatidylserine-binding protein)", "serum deprivation response (phosphatidylserine binding protein)"			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.1199C>T	2.37:g.192700728G>A	ENSP00000305675:p.Ala400Val			Missense_Mutation	SNP	NULL	p.A400V	ENST00000304141.4	37	c.1199	CCDS2313.1	2	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923417	0.33908	.	.	ENSG00000168497	ENST00000304141	T	0.63580	-0.05	5.25	-10.5	0.00291	.	2.135600	0.02207	N	0.062812	T	0.22975	0.0555	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.19647	-1.0299	10	0.26408	T	0.33	-0.1406	2.6794	0.05089	0.1277:0.2477:0.3699:0.2547	.	400	O95810	SDPR_HUMAN	V	400	ENSP00000305675:A400V	ENSP00000305675:A400V	A	-	2	0	SDPR	192408973	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.515000	0.06290	-1.725000	0.01371	-1.479000	0.00991	GCG	SDPR	-	NULL	ENSG00000168497		0.607	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDPR	HGNC	protein_coding	OTTHUMT00000334791.2	-	0	28	0	G	NM_004657		192700728	-1	tier1	-	no_errors	ENST00000304141	ensembl	human	known	74_37	missense	55.88	15	19	SNP	0.000	A	A	192700728	G	A	192700728	3	1	57	1	0	0	0	0	1	0	0	0	14015	1087	38	1	82	1	SDPR	2	192700728	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2839823	192700728	50498645	78	14076											
ALS2CR11	151254	genome.wustl.edu	37	chr2	202357193	202357193	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatatttcatgtttatttCaaaccttctaccaaaactcc	13	15	3	10	0	3	0	2	0	1	0	4	1	4	1	3	1	3	1	3	1	6	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:202357193C>T	ENST00000286195.3	-	14	1626				ALS2CR11_ENST00000439140.1_Missense_Mutation_p.E1291K|ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000482942.1_Intron	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11											NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ATGTTTATTTCAAACCTTCTA	0.284																																																	0													30	25	26					2																	202357193		692	1569	2261	SO:0001627	intron_variant	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1581+3424G>A	2.37:g.202357193C>T			C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	superfamily_C2_dom	p.E1291K	ENST00000286195.3	37	c.3871	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	9.663	1.144724	0.21288	.	.	ENSG00000155754	ENST00000439140	T	0.49432	0.78	5.03	3.06	0.35304	.	.	.	.	.	T	0.32041	0.0816	N	0.19112	0.55	0.09310	N	0.999991	B	0.30851	0.297	B	0.34779	0.189	T	0.19778	-1.0295	9	0.31617	T	0.26	.	7.1887	0.25814	0.0:0.7293:0.1731:0.0977	.	1291	E9PGG4	.	K	1291	ENSP00000409937:E1291K	ENSP00000409937:E1291K	E	-	1	0	ALS2CR11	202065438	0.008000	0.16893	0.855000	0.33649	0.914000	0.54420	0.365000	0.20348	1.232000	0.43678	0.455000	0.32223	GAA	ALS2CR11	-	NULL	ENSG00000155754		0.284	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	HGNC	protein_coding	OTTHUMT00000256296.2	-	0	34	0	C	NM_152525		202357193	-1	tier1	-	no_errors	ENST00000439140	ensembl	human	novel	74_37	missense	31.71	28	13	SNP	0.012	T	T	202357193	C	T	202357193	1	4	57	0	1	0	0	0	0	0	0	0	552	835	29	3		3	ALS2CR11	2	202357193	Intron	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	9656465	202357193	40842180	79	14077											
MAP2	4133	genome.wustl.edu	37	chr2	210559484	210559484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaaacggacagtcagCtcgaagacctgggctactgt	12	9	11	9	2	1	1	1	0	0	1	2	3	1	2	1	2	3	3	1	2	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:210559484C>T	ENST00000360351.4	+	7	3096	c.2590C>T	c.(2590-2592)Ctc>Ttc	p.L864F	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L860F	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	864					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GGACAGTCAGCTCGAAGACCT	0.468																																					Pancreas(27;423 979 28787 29963)												0													84	75	78					2																	210559484		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2590C>T	2.37:g.210559484C>T	ENSP00000353508:p.Leu864Phe		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.L864F	ENST00000360351.4	37	c.2590	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.197070	0.58126	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.27890	1.64;1.64	5.8	4.87	0.63330	MAP2/Tau projection (1);	0.120313	0.37761	N	0.001959	T	0.37892	0.1020	L	0.59436	1.845	0.37781	D	0.927026	P;P	0.38420	0.577;0.63	B;B	0.42495	0.269;0.389	T	0.45585	-0.9251	10	0.87932	D	0	-1.4661	15.684	0.77393	0.1376:0.8624:0.0:0.0	.	860;864	P11137-3;P11137	.;MAP2_HUMAN	F	864;860	ENSP00000353508:L864F;ENSP00000392164:L860F	ENSP00000353508:L864F	L	+	1	0	MAP2	210267729	1.000000	0.71417	0.955000	0.39395	0.924000	0.55760	2.120000	0.41968	2.752000	0.94435	0.650000	0.86243	CTC	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2		0	68	0	C	NM_001039538		210559484	1			no_errors	ENST00000360351	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.972	T	T	210559484	C	T	210559484	3	4	57	1	0	0	0	0	1	0	0	0	9273	797	28	3	2604	3	MAP2	2	210559484	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	8202291	210559484	32639889	80	14078											
ERBB4	2066	genome.wustl.edu	37	chr2	212483991	212483991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagtttctccttcaggtaCccaaataccctttggggaaa	11	11	7	12	0	2	0	1	0	1	0	3	1	2	1	3	3	2	2	3	3	4	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:212483991C>A	ENST00000342788.4	-	19	2522	c.2212G>T	c.(2212-2214)Gta>Tta	p.V738L	ERBB4_ENST00000436443.1_Missense_Mutation_p.V738L|ERBB4_ENST00000402597.1_Missense_Mutation_p.V728L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	738	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCTTCAGGTACCCAAATACCC	0.338										TSP Lung(8;0.080)																																							0													88	88	88					2																	212483991		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2212G>T	2.37:g.212483991C>A	ENSP00000342235:p.Val738Leu		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V738L	ENST00000342788.4	37	c.2212	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790089	0.50102	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82344	-1.6;-1.6;-1.6	4.91	4.91	0.64330	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.063668	0.64402	D	0.000003	T	0.65954	0.2741	N	0.01576	-0.805	0.80722	D	1	B;B;B;B	0.28667	0.044;0.001;0.09;0.219	B;B;B;B	0.30855	0.022;0.009;0.03;0.121	T	0.69767	-0.5056	10	0.59425	D	0.04	.	18.0478	0.89338	0.0:1.0:0.0:0.0	.	728;728;738;738	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	L	738;738;728	ENSP00000342235:V738L;ENSP00000403204:V738L;ENSP00000385565:V728L	ENSP00000342235:V738L	V	-	1	0	ERBB4	212192236	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.997000	0.49457	2.436000	0.82500	0.655000	0.94253	GTA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178568		0.338	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	42	0	C	NM_001042599		212483991	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A	A	212483991	C	A	212483991	3	1	57	1	0	0	0	0	1	0	0	0	5225	507	18	3	1754	3	ERBB4	2	212483991	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1924507	212483991	30715382	81	14079											
COL4A4	1286	genome.wustl.edu	37	chr2	227973577	227973577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgccctggttggcccGgaggtccctaaatcaaggga	8	7	14	12	2	1	0	1	0	0	0	2	3	2	3	3	6	0	1	3	6	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:227973577G>T	ENST00000396625.3	-	11	872	c.665C>A	c.(664-666)cCg>cAg	p.P222Q	COL4A4_ENST00000329662.7_Missense_Mutation_p.P222Q	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	222	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTTGGCCCGGAGGTCCCTA	0.428																																																	0													44	38	40					2																	227973577		1840	4100	5940	SO:0001583	missense	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.665C>A	2.37:g.227973577G>T	ENSP00000379866:p.Pro222Gln		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P222Q	ENST00000396625.3	37	c.665	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	4.966	0.179490	0.09443	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93189	-3.18;-3.18	5.23	0.988	0.19796	.	.	.	.	.	D	0.87943	0.6305	L	0.47190	1.495	0.21064	N	0.999793	B	0.18461	0.028	B	0.19148	0.024	T	0.76080	-0.3090	9	0.37606	T	0.19	.	3.4794	0.07597	0.1958:0.0:0.4539:0.3502	.	222	P53420	CO4A4_HUMAN	Q	222	ENSP00000379866:P222Q;ENSP00000328553:P222Q	ENSP00000328553:P222Q	P	-	2	0	COL4A4	227681821	0.960000	0.32886	0.219000	0.23793	0.070000	0.16714	1.609000	0.36858	0.267000	0.21916	-0.237000	0.12165	CCG	COL4A4	-	pfam_Collagen	ENSG00000081052		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0	68	0	G	NM_000092		227973577	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.181	T	T	227973577	G	T	227973577	3	4	57	1	0	0	0	0	1	0	0	0	3700	1116	39	2	4559	2	COL4A4	2	227973577	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	15489586	227973577	15225796	82	14080											
COL4A4	1286	genome.wustl.edu	37	chr2	227983419	227983419	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccctgggtcacctcttGagccattgtggccactcata	9	10	9	13	0	3	1	2	1	1	0	3	2	3	1	4	2	2	0	4	2	2	3	rs368884003		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:227983419G>T	ENST00000396625.3	-	7	638	c.431C>A	c.(430-432)tCa>tAa	p.S144*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.S144*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	144	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GTCACCTCTTGAGCCATTGTG	0.502																																																	0													72	73	73					2																	227983419		1848	4081	5929	SO:0001587	stop_gained	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.431C>A	2.37:g.227983419G>T	ENSP00000379866:p.Ser144*		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S144*	ENST00000396625.3	37	c.431	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.548850	0.98352	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	19.2682	0.93998	0.0:0.0:1.0:0.0	.	.	.	.	X	144	.	ENSP00000328553:S144X	S	-	2	0	COL4A4	227691663	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	4.345000	0.59360	2.538000	0.85594	0.655000	0.94253	TCA	COL4A4	-	pfam_Collagen	ENSG00000081052		0.502	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0	69	0	G	NM_000092		227983419	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	nonsense	7.46	62	5	SNP	1.000	T	T	227983419	G	T	227983419	4	4	57	1	0	0	0	0	0	1	0	0	3700	1294	45	3	4809	3	COL4A4	2	227983419	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9842	227983419	15215954	83	14081											
MFF	56947	genome.wustl.edu	37	chr2	228195538	228195538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctagtgtgataatgcaaGttccggagaggattgttgta	11	13	13	4	1	0	2	0	1	0	1	1	4	1	3	1	2	2	5	1	2	4	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:228195538G>T	ENST00000353339.3	+	4	676	c.235G>T	c.(235-237)Gtt>Ttt	p.V79F	MFF_ENST00000476924.1_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.V53F|MFF_ENST00000392059.1_Missense_Mutation_p.V79F|MFF_ENST00000349901.7_Missense_Mutation_p.V53F|MFF_ENST00000409616.1_Missense_Mutation_p.V53F|MFF_ENST00000409565.1_Missense_Mutation_p.V53F|MFF_ENST00000354503.6_Missense_Mutation_p.V53F|MFF_ENST00000524634.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.V53F	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	79					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GATAATGCAAGTTCCGGAGAG	0.398																																																	0													89	79	83					2																	228195538		2203	4300	6503	SO:0001583	missense	0			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.235G>T	2.37:g.228195538G>T	ENSP00000302037:p.Val79Phe		Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.V79F	ENST00000353339.3	37	c.235	CCDS2465.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.208576	0.95069	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000354503;ENST00000409565;ENST00000452930;ENST00000409616;ENST00000337110;ENST00000349901;ENST00000418961;ENST00000392059	T;T	0.60920	0.15;0.15	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.72118	2.19	0.80722	D	1	D;D;D;P;D;D	0.89917	0.998;0.995;0.992;0.946;1.0;0.999	D;D;P;P;D;D	0.79108	0.928;0.934;0.859;0.663;0.992;0.985	T	0.78046	-0.2357	10	0.87932	D	0	-30.6492	20.063	0.97692	0.0:0.0:1.0:0.0	.	53;53;53;53;53;79	Q9GZY8-4;Q9GZY8-3;Q9GZY8-5;C9JHF5;Q9GZY8-2;Q9GZY8	.;.;.;.;.;MFF_HUMAN	F	53;79;53;53;53;53;53;53;53;79	ENSP00000302037:V79F;ENSP00000375912:V79F	ENSP00000304898:V53F	V	+	1	0	MFF	227903782	1.000000	0.71417	0.997000	0.53966	0.944000	0.59088	9.441000	0.97557	2.741000	0.93983	0.650000	0.86243	GTT	MFF	-	pfam_FATE/Miff/Tango-11	ENSG00000168958		0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2	-	0	42	0	G	NM_020194		228195538	1	tier1	-	no_errors	ENST00000353339	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	228195538	G	T	228195538	3	4	57	1	0	0	0	0	1	0	0	0	9557	1029	36	3	241	3	MFF	2	228195538	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	212119	228195538	15003835	84	14082											
ALPP	250	genome.wustl.edu	37	chr2	233245019	233245019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctggtgcaggaatggctgGcgaagcgccaggtgatgggg	8	7	19	7	2	1	1	0	1	1	0	1	3	1	2	1	7	2	2	1	7	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:233245019G>T	ENST00000392027.2	+	6	1050	c.781G>T	c.(781-783)Gcg>Tcg	p.A261S	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	261				AK -> GE (in Ref. 6; AAA51706). {ECO:0000305}.	dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGAATGGCTGGCGAAGCGCCA	0.652																																																	0													80	82	81					2																	233245019		2203	4300	6503	SO:0001583	missense	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.781G>T	2.37:g.233245019G>T	ENSP00000375881:p.Ala261Ser		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.A261S	ENST00000392027.2	37	c.781	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.770538	0.00645	.	.	ENSG00000163283	ENST00000392027	D	0.95853	-3.83	2.31	1.39	0.22231	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.490260	0.03629	N	0.237605	D	0.88851	0.6549	N	0.20304	0.555	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.79293	-0.1863	10	0.06236	T	0.91	.	4.8586	0.13571	0.1912:0.0:0.8088:0.0	.	261	P05187	PPB1_HUMAN	S	261	ENSP00000375881:A261S	ENSP00000375881:A261S	A	+	1	0	ALPP	232953263	0.610000	0.26983	0.809000	0.32408	0.289000	0.27227	0.523000	0.22925	0.300000	0.22699	0.298000	0.19748	GCG	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.652	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	-	0	95	0	G	NM_001632		233245019	1	tier1	-	no_errors	ENST00000392027	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.311	T	T	233245019	G	T	233245019	3	4	57	1	0	0	0	0	1	0	0	0	548	1203	42	3	803	3	ALPP	2	233245019	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5049481	233245019	9954354	85	14083											
CHRND	1144	genome.wustl.edu	37	chr2	233390934	233390934	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagggatgggatggagggGccagtgctgacactggggct	8	6	20	7	0	0	2	0	1	0	1	0	5	0	5	1	7	1	2	1	7	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:233390934G>T	ENST00000258385.3	+	1	41	c.9G>T	c.(7-9)ggG>ggT	p.G3G	CHRND_ENST00000543200.1_Silent_p.G3G|CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Silent_p.G3G	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	3					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	GGATGGAGGGGCCAGTGCTGA	0.667																																																	0													62	63	63					2																	233390934		2203	4300	6503	SO:0001819	synonymous_variant	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1965	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, delta (muscle)"	100720	"cholinergic receptor, nicotinic, delta"	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.9G>T	2.37:g.233390934G>T			A8K661|B4DT92|Q52LH4	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G3	ENST00000258385.3	37	c.9	CCDS2494.1	2																																																																																			CHRND	-	NULL	ENSG00000135902		0.667	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	-	0	41	0	G			233390934	1	tier1	-	no_errors	ENST00000258385	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.346	T	T	233390934	G	T	233390934	2	4	57	1	0	0	0	0	0	0	0	1	3401	1190	42	3		3	CHRND	2	233390934	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	145915	233390934	9808439	86	14084											
INPP5D	3635	genome.wustl.edu	37	chr2	233990466	233990466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccagtagaaagtgtcGtgtctccacccgagctgccc	7	10	9	15	2	2	1	0	0	2	1	6	2	3	1	4	0	2	2	4	0	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:233990466G>A	ENST00000359570.5	+	4	361	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.V121M			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGAAAGTGTCGTGTCTCCACC	0.602																																					NSCLC(82;1215 1426 16163 20348 41018)												0													32	37	35					2																	233990466		2182	4286	6468	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.361G>A	2.37:g.233990466G>A	ENSP00000352575:p.Val121Met		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.V121M	ENST00000359570.5	37	c.361		2	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904244	0.17760	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96136	-2.91;-2.9;-3.92;-3.9	5.23	-10.5	0.00291	.	2.535600	0.01248	N	0.008808	D	0.90424	0.7002	.	.	.	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.10450	0.005;0.004	T	0.80125	-0.1513	9	0.41790	T	0.15	.	10.3267	0.43798	0.2148:0.3998:0.3854:0.0	.	120;121	Q92835-2;Q92835	.;SHIP1_HUMAN	M	120;121;121;121	ENSP00000409018:V120M;ENSP00000415253:V121M;ENSP00000352575:V121M;ENSP00000441010:V121M	ENSP00000352575:V121M	V	+	1	0	INPP5D	233698710	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.541000	0.06099	-3.195000	0.00218	-1.722000	0.00706	GTG	INPP5D	-	NULL	ENSG00000168918		0.602	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		-	0	66	0	G	NM_001017915		233990466	1	tier1	-	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	45.31	35	29	SNP	0.000	A	A	233990466	G	A	233990466	3	1	57	1	0	0	0	0	1	0	0	0	7783	1145	40	1	375	1	INPP5D	2	233990466	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	599532	233990466	9208907	87	14085											
SCLY	51540	genome.wustl.edu	37	chr2	238991976	238991976	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatttggaggtggacaaGaacggaatttcaggccaggg	11	9	15	6	1	1	1	1	0	0	1	1	4	1	4	1	6	2	1	1	6	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:238991976G>T	ENST00000555827.1	+	7	929	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Nonsense_Mutation_p.E195*|SCLY_ENST00000409736.2_Nonsense_Mutation_p.E289*|SCLY_ENST00000254663.6_Nonsense_Mutation_p.E297*|SCLY_ENST00000373332.3_Nonsense_Mutation_p.E207*			Q96I15	SCLY_HUMAN	selenocysteine lyase	289					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		AGGTGGACAAGAACGGAATTT	0.453																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)												0													139	127	131					2																	238991976		2203	4300	6503	SO:0001587	stop_gained	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.865G>T	2.37:g.238991976G>T	ENSP00000450613:p.Glu289*		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Nonsense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	p.E297*	ENST00000555827.1	37	c.889		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.3|23.3|23.3	4.397112|4.397112|4.397112	0.83120|0.83120|0.83120	.|.|.	.|.|.	ENSG00000132330|ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000433750|ENST00000437134	.|.|.	.|.|.	.|.|.	5.79|5.79|5.79	5.79|5.79|5.79	0.91817|0.91817|0.91817	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.75034|0.75034	.|0.3795|0.3795	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.72551|0.72551	.|-0.4259|-0.4259	.|4|4	0.87932|.|.	D|.|.	0|.|.	-26.3015|-26.3015|-26.3015	18.8114|18.8114|18.8114	0.92059|0.92059|0.92059	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|N|I	297;289;207;289;195;119|30|132	.|.|.	ENSP00000254663:E289X|.|.	E|K|R	+|+|+	1|3|2	0|2|0	SCLY|SCLY|SCLY	238656715|238656715|238656715	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.935000|0.935000|0.935000	0.37517|0.37517|0.37517	0.390000|0.390000|0.390000	0.30446|0.30446|0.30446	8.938000|8.938000|8.938000	0.92943|0.92943|0.92943	2.733000|2.733000|2.733000	0.93635|0.93635|0.93635	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA	SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	ENSG00000132330		0.453	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		-	0	43	0	G	NM_016510		238991976	1	tier1	-	no_errors	ENST00000254663	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	238991976	G	T	238991976	4	4	57	1	0	0	0	0	0	1	0	0	13952	943	33	3	891	3	SCLY	2	238991976	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5001510	238991976	4207397	88	14086											
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	11	0	16	14	6	0	0	0	0	0	0	0	6	0	3	4	4	4	1	4	4	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L|HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0	79	0	G	NM_006037		240016733	-1			no_errors	ENST00000345617	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.191	T	T	240016733	G	T	240016733	3	4	57	1	0	0	0	0	1	0	0	0	7036	1049	37	2	1060	2	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1024757	240016733	3182640	89	14087											
IL5RA	3568	genome.wustl.edu	37	chr3	3139909	3139909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggtatgaccttaaacGtgaataattgtcttctgtag	12	15	8	6	1	2	2	0	2	2	0	2	2	2	2	1	1	2	2	1	1	7	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:3139909G>T	ENST00000446632.2	-	6	1007	c.433C>A	c.(433-435)Cgt>Agt	p.R145S	IL5RA_ENST00000418488.2_Missense_Mutation_p.R145S|IL5RA_ENST00000383846.1_Missense_Mutation_p.R145S|IL5RA_ENST00000311981.8_Missense_Mutation_p.R145S|IL5RA_ENST00000256452.3_Missense_Mutation_p.R145S|IL5RA_ENST00000456302.1_Missense_Mutation_p.R145S|IL5RA_ENST00000438560.1_Missense_Mutation_p.R145S|IL5RA_ENST00000430514.2_Missense_Mutation_p.R145S|IL5RA_ENST00000445864.2_Intron	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	145					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GACCTTAAACGTGAATAATTG	0.418																																					GBM(169;430 2801 24955 28528)												0													210	216	214					3																	3139909		2203	4300	6503	SO:0001583	missense	0			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"Interleukins and interleukin receptors", "CD molecules"	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.433C>A	3.37:g.3139909G>T	ENSP00000412209:p.Arg145Ser		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.R145S	ENST00000446632.2	37	c.433	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275086	0.10403	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	D;D;D;T;T;T;T;T;T	0.87334	-2.24;-2.13;-2.24;1.3;1.3;1.3;1.3;1.3;1.56	4.34	-0.881	0.10607	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.843040	0.02445	N	0.084953	T	0.72095	0.3418	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.25486	0.068;0.009;0.009;0.008;0.127	B;B;B;B;B	0.20577	0.03;0.012;0.012;0.018;0.03	T	0.61058	-0.7139	10	0.35671	T	0.21	-0.3764	2.7649	0.05317	0.0876:0.291:0.3232:0.2983	.	145;145;145;145;145	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	S	145	ENSP00000412209:R145S;ENSP00000390753:R145S;ENSP00000256452:R145S;ENSP00000388858:R145S;ENSP00000373358:R145S;ENSP00000309196:R145S;ENSP00000400400:R145S;ENSP00000392059:R145S;ENSP00000398117:R145S	ENSP00000256452:R145S	R	-	1	0	IL5RA	3114909	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.037000	0.13840	-0.168000	0.10853	-0.822000	0.03109	CGT	IL5RA	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000091181		0.418	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2	-	0	128	0	G			3139909	-1	tier1	-	no_errors	ENST00000256452	ensembl	human	known	74_37	missense	43.28	38	29	SNP	0.000	T	T	3139909	G	T	3139909	3	4	57	1	0	0	0	0	1	0	0	0	7727	1145	40	2	883	2	IL5RA	3	3139909	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		3139909	194882521	90	14088											
C3orf32	51066	genome.wustl.edu	37	chr3	8671350	8671351	+	Splice_Site	INS	-	-	A																															tggttcacagatgactcaccINSgtgcccgccccgtggcagcc																								rs6147701		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:8671350_8671351insA	ENST00000317371.4	-	14	1746_1747	c.521_522insT	c.(520-522)acg>acTg	p.T174fs	SSUH2_ENST00000544814.1_Splice_Site_p.T196fs|SSUH2_ENST00000415132.1_Splice_Site_p.T174fs|SSUH2_ENST00000341795.3_Splice_Site_p.T174fs			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	174	Cys-rich.					cytoplasm (GO:0005737)											GATGACTCACCGTGCCCGCCCC	0.624																																																	0																																										SO:0001630	splice_region_variant	0			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 32"	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.522+1->T	3.37:g.8671350_8671351insA			A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Frame_Shift_Ins	INS	superfamily_HSP_DnaJ_Cys-rich_dom	p.V197fs	ENST00000317371.4	37	c.588_587	CCDS2568.1	3																																																																																			SSUH2	-	superfamily_HSP_DnaJ_Cys-rich_dom	ENSG00000125046		0.624	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1		0	77	0	-	NM_015931	Frame_Shift_Ins	8671351	-1	tier1		no_errors	ENST00000544814	ensembl	human	known	74_37	frame_shift_ins	10.53	34	4	INS	0.992:0.763	A	A	8671351	-	A	8671350	8	5	57	1	0	1	1	0	0	0	1	0	2229	666	23	0	563	0	C3orf32	3	8671350	Splice_Site	INS	-	TCGA-L5-A4OH-01A-11D-A27G-09	5531441	8671350	189351080	91	14089											
IRAK2	3656	genome.wustl.edu	37	chr3	10283813	10283813	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagttacagaaacttcGtggcaaattgagatcaatga	16	10	8	7	1	2	3	2	2	0	2	3	4	2	3	0	1	2	2	0	1	4	3	rs372211228		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:10283813G>T	ENST00000256458.4	+	13	1869	c.1779G>T	c.(1777-1779)tcG>tcT	p.S593S		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	593					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGAAACTTCGTGGCAAATTG	0.373																																																	0													84	85	85					3																	10283813		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.1779G>T	3.37:g.10283813G>T			B4DQZ6|Q08AG6|Q5K546	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S593	ENST00000256458.4	37	c.1779	CCDS33697.1	3																																																																																			IRAK2	-	NULL	ENSG00000134070		0.373	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1		0	57	0	G			10283813	1			no_errors	ENST00000256458	ensembl	human	known	74_37	silent	7.32	38	3	SNP	0.039	T	T	10283813	G	T	10283813	2	4	57	1	0	0	0	0	0	0	0	1	7850	1132	40	2		2	IRAK2	3	10283813	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1612463	10283813	187738617	92	14090											
RPL32	6161	genome.wustl.edu	37	chr3	12877710	12877710	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacattgtgagcgatctcGgcacagtaagatctgcaaga	14	8	11	8	2	2	3	0	1	2	2	3	5	2	3	0	1	3	3	0	1	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:12877710G>T	ENST00000429711.2	-	4	390	c.291C>A	c.(289-291)gcC>gcA	p.A97A	RPL32_ENST00000396957.1_Silent_p.A97A|RPL32_ENST00000396953.2_Silent_p.A97A|RPL32_ENST00000435983.1_Silent_p.A97A|RPL32_ENST00000273223.6_Silent_p.A115A	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GAGCGATCTCGGCACAGTAAG	0.517																																																	0													65	55	58					3																	12877710		2203	4300	6503	SO:0001819	synonymous_variant	0			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"L ribosomal proteins"	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.291C>A	3.37:g.12877710G>T			B2R4Q3|P02433	Silent	SNP	pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e	p.A97	ENST00000429711.2	37	c.291	CCDS2614.1	3																																																																																			RPL32	-	pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e	ENSG00000144713		0.517	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL32	HGNC	protein_coding	OTTHUMT00000252032.2		0	75	0	G	NM_000994		12877710	-1			no_errors	ENST00000396953	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.037	T	T	12877710	G	T	12877710	2	4	57	1	0	0	0	0	0	0	0	1	13627	1103	39	2		2	RPL32	3	12877710	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2593897	12877710	185144720	93	14091											
SLC4A7	9497	genome.wustl.edu	37	chr3	27433267	27433267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggaaactcccatataaagGaaaacaccatacagaacagg	20	4	8	9	0	0	1	0	0	0	1	1	4	1	3	2	3	4	0	2	3	8	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:27433267G>A	ENST00000295736.5	-	21	3193	c.3123C>T	c.(3121-3123)ttC>ttT	p.F1041F	SLC4A7_ENST00000440156.1_Silent_p.F1037F|SLC4A7_ENST00000388777.4_Silent_p.F591F|SLC4A7_ENST00000435667.2_Silent_p.F926F|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Silent_p.F1037F|SLC4A7_ENST00000446700.1_Silent_p.F1033F|SLC4A7_ENST00000454389.1_Silent_p.F1050F|SLC4A7_ENST00000437179.1_Silent_p.F922F|SLC4A7_ENST00000455077.1_Silent_p.F922F|SLC4A7_ENST00000428386.1_Silent_p.F917F	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1041					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCATATAAAGGAAAACACCAT	0.284																																																	0													65	62	63					3																	27433267		2200	4296	6496	SO:0001819	synonymous_variant	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3123C>T	3.37:g.27433267G>A			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.F1050	ENST00000295736.5	37	c.3150	CCDS33721.1	3																																																																																			SLC4A7	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.284	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	-	0	31	0	G	NM_003615		27433267	-1	tier1	-	no_errors	ENST00000454389	ensembl	human	known	74_37	silent	23.08	20	6	SNP	1.000	A	A	27433267	G	A	27433267	2	1	57	1	0	0	0	0	0	0	0	1	14703	1165	41	3		3	SLC4A7	3	27433267	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	14555557	27433267	170589163	94	14092											
SCN5A	6331	genome.wustl.edu	37	chr3	38591965	38591965	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagtggaggagatggaGgagctggagggtgggccaag	12	4	22	3	0	0	1	0	0	0	1	0	7	0	6	1	8	1	1	1	8	3	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:38591965G>T	ENST00000333535.4	-	28	6047	c.5898C>A	c.(5896-5898)tcC>tcA	p.S1966S	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Silent_p.S1912S|SCN5A_ENST00000449557.2_Silent_p.S1912S|SCN5A_ENST00000455624.2_Silent_p.S1933S|SCN5A_ENST00000423572.2_Silent_p.S1965S|SCN5A_ENST00000425664.1_Silent_p.S1948S|SCN5A_ENST00000413689.1_Silent_p.S1966S|SCN5A_ENST00000443581.1_Silent_p.S1965S|SCN5A_ENST00000414099.2_Silent_p.S1948S|SCN5A_ENST00000451551.2_Silent_p.S1912S			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1966					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGAGATGGAGGAGCTGGAGG	0.612																																																	0													34	41	38					3																	38591965		2064	4190	6254	SO:0001819	synonymous_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5898C>A	3.37:g.38591965G>T			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.S1966	ENST00000333535.4	37	c.5898	CCDS46796.1	3																																																																																			SCN5A	-	NULL	ENSG00000183873		0.612	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0	36	0	G	NM_198056		38591965	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	silent	15.00	17	3	SNP	1.000	T	T	38591965	G	T	38591965	2	4	57	1	0	0	0	0	0	0	0	1	13967	987	35	3		3	SCN5A	3	38591965	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11158698	38591965	159430465	95	14093											
SCN5A	6331	genome.wustl.edu	37	chr3	38592867	38592867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtagatgaacatgacgaGgaagagcagcagcccgatgt	14	5	15	7	2	0	4	0	2	0	2	0	8	0	6	1	2	4	3	1	2	3	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:38592867G>T	ENST00000333535.4	-	28	5145	c.4996C>A	c.(4996-4998)Ctc>Atc	p.L1666I	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.L1612I|SCN5A_ENST00000449557.2_Missense_Mutation_p.L1612I|SCN5A_ENST00000455624.2_Missense_Mutation_p.L1633I|SCN5A_ENST00000423572.2_Missense_Mutation_p.L1665I|SCN5A_ENST00000425664.1_Missense_Mutation_p.L1648I|SCN5A_ENST00000413689.1_Missense_Mutation_p.L1666I|SCN5A_ENST00000443581.1_Missense_Mutation_p.L1665I|SCN5A_ENST00000414099.2_Missense_Mutation_p.L1648I|SCN5A_ENST00000451551.2_Missense_Mutation_p.L1612I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1666					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AACATGACGAGGAAGAGCAGC	0.557																																																	0													163	160	161					3																	38592867		2203	4300	6503	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4996C>A	3.37:g.38592867G>T	ENSP00000328968:p.Leu1666Ile		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.L1666I	ENST00000333535.4	37	c.4996	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225211	0.79576	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	4.68	4.68	0.58851	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99096	0.9689	M	0.81497	2.545	0.54753	D	0.999989	D;D;D;D;D;P	0.89917	0.972;0.999;0.999;1.0;1.0;0.64	P;D;D;D;D;P	0.91635	0.895;0.994;0.999;0.999;0.999;0.518	D	0.99731	1.1012	10	0.87932	D	0	.	17.7905	0.88551	0.0:0.0:1.0:0.0	.	1612;1633;1648;1666;1665;1666	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	I	1648;1665;1666;1612;1665;1648;1666;1633;1612;1612	ENSP00000398962:L1648I;ENSP00000398266:L1665I;ENSP00000410257:L1666I;ENSP00000388797:L1612I;ENSP00000397915:L1665I;ENSP00000416634:L1648I;ENSP00000328968:L1666I;ENSP00000399524:L1633I;ENSP00000403355:L1612I;ENSP00000413996:L1612I	ENSP00000328968:L1666I	L	-	1	0	SCN5A	38567871	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.455000	0.66658	2.423000	0.82170	0.655000	0.94253	CTC	SCN5A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000183873		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0	64	0	G	NM_198056		38592867	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	38592867	G	T	38592867	3	4	57	1	0	0	0	0	1	0	0	0	13967	1000	35	3	1058	3	SCN5A	3	38592867	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	902	38592867	159429563	96	14094											
MYRIP	25924	genome.wustl.edu	37	chr3	40085745	40085745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaggcctgggtctgctgCgtctgccagcaagcgaggtg	8	7	16	10	2	2	0	0	0	2	0	2	2	2	0	2	3	5	2	2	3	3	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:40085745C>T	ENST00000302541.6	+	3	657	c.315C>T	c.(313-315)tgC>tgT	p.C105C	MYRIP_ENST00000444716.1_Silent_p.C105C|MYRIP_ENST00000425621.1_Silent_p.C105C|MYRIP_ENST00000396217.3_Missense_Mutation_p.A62V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	105	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGGTCTGCTGCGTCTGCCAGC	0.537																																																	0													65	61	62					3																	40085745		2203	4300	6503	SO:0001819	synonymous_variant	0			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"A-kinase anchor proteins"	19156	protein-coding gene	gene with protein product	"synaptotagmin-like protein homologue lacking C2 domains-c", "rab effector MYRIP", "Slp homologue lacking C2 domains"	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.315C>T	3.37:g.40085745C>T			B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin	p.A62V	ENST00000302541.6	37	c.185	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531888	0.45073	.	.	ENSG00000170011	ENST00000396217	T	0.35236	1.32	5.51	-8.2	0.01045	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.42224	D	0.99186	B	0.06786	0.001	B	0.04013	0.001	T	0.15636	-1.0430	7	.	.	.	.	18.6671	0.91495	0.0:0.2092:0.0:0.7908	.	62	Q32M42	.	V	62	ENSP00000379519:A62V	.	A	+	2	0	MYRIP	40060749	0.003000	0.15002	0.457000	0.27056	0.939000	0.58152	-1.290000	0.02777	-1.899000	0.01098	-0.471000	0.05019	GCG	MYRIP	-	NULL	ENSG00000170011		0.537	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	-	0	43	0	C	NM_015460		40085745	1	tier1	-	no_errors	ENST00000396217	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.296	T	T	40085745	C	T	40085745	2	4	57	1	0	0	0	0	0	0	0	1	10138	776	27	1		1	MYRIP	3	40085745	Silent	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1492878	40085745	157936685	97	14095											
WDR6	11180	genome.wustl.edu	37	chr3	49050296	49050296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggtgcacagcttgagctgGgccctgcgtggttatgagga	8	9	16	8	1	0	2	0	2	0	0	0	3	0	3	1	4	4	4	1	4	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:49050296G>T	ENST00000608424.1	+	2	1368	c.1329G>T	c.(1327-1329)tgG>tgT	p.W443C	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.W473C|WDR6_ENST00000448293.1_Missense_Mutation_p.W392C|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	443					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCTTGAGCTGGGCCCTGCGTG	0.602																																																	0													71	53	59					3																	49050296		2203	4300	6503	SO:0001583	missense	0			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"WD repeat domain containing"	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1329G>T	3.37:g.49050296G>T	ENSP00000477389:p.Trp443Cys		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W473C	ENST00000608424.1	37	c.1419		3	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603133	0.66445	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.69435	-0.4;2.12	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.119145	0.64402	D	0.000009	T	0.80701	0.4673	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.983	D;D;P	0.87578	0.998;0.994;0.696	T	0.80011	-0.1561	10	0.46703	T	0.11	-18.7137	19.1575	0.93517	0.0:0.0:1.0:0.0	.	314;443;392	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	C	473;392	ENSP00000378857:W473C;ENSP00000413432:W392C	ENSP00000378857:W473C	W	+	3	0	WDR6	49025300	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.118000	0.77137	2.537000	0.85549	0.561000	0.74099	TGG	WDR6	-	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	ENSG00000178252		0.602	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1		0	53	0	G			49050296	1			no_errors	ENST00000395474	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	49050296	G	T	49050296	3	4	57	1	0	0	0	0	1	0	0	0	17359	1241	43	3	1425	3	WDR6	3	49050296	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8964551	49050296	148972134	98	14096											
APPL1	26060	genome.wustl.edu	37	chr3	57281447	57281447	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctttaagatgggttctGaaaatcttaatgaacaactg	13	15	8	5	0	3	3	0	2	3	1	3	3	3	3	0	1	2	2	0	1	6	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:57281447G>T	ENST00000288266.3	+	9	793	c.646G>T	c.(646-648)Gaa>Taa	p.E216*		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	216	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GATGGGTTCTGAAAATCTTAA	0.299																																																	0													51	53	53					3																	57281447		2200	4291	6491	SO:0001587	stop_gained	0			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"Pleckstrin homology (PH) domain containing"	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.646G>T	3.37:g.57281447G>T	ENSP00000288266:p.Glu216*		Q9P2B9	Nonsense_Mutation	SNP	pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.E216*	ENST00000288266.3	37	c.646	CCDS2882.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.536065	0.97646	.	.	ENSG00000157500	ENST00000288266	.	.	.	5.57	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.6786	14.8644	0.70404	0.0693:0.0:0.9307:0.0	.	.	.	.	X	216	.	ENSP00000288266:E216X	E	+	1	0	APPL1	57256487	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.400000	0.97290	1.496000	0.48567	0.591000	0.81541	GAA	APPL1	-	NULL	ENSG00000157500		0.299	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL1	HGNC	protein_coding	OTTHUMT00000258196.2	-	0	52	0	G	NM_012096		57281447	1	tier1	-	no_errors	ENST00000288266	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	1.000	T	T	57281447	G	T	57281447	4	4	57	1	0	0	0	0	0	1	0	0	817	1291	45	3	680	3	APPL1	3	57281447	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8231151	57281447	140740983	99	14097											
C3orf14	57415	genome.wustl.edu	37	chr3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattcacccacttccaCggcctgaggtggtttctctt	6	12	9	14	1	2	1	1	1	1	0	4	2	3	2	4	4	0	1	4	4	0	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:62317051C>T	ENST00000494481.1	+	5	543	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	77								p.R77W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388																																																	1	Substitution - Missense(1)	lung(1)											113	111	112					3																	62317051		2203	4300	6503	SO:0001583	missense	0			AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.229C>T	3.37:g.62317051C>T	ENSP00000418086:p.Arg77Trp		B2R9U0	Missense_Mutation	SNP	NULL	p.R77W	ENST00000494481.1	37	c.229	CCDS2896.1	3	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399513	0.42512	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	3.33	0.38152	.	1.224480	0.05667	N	0.587906	T	0.24812	0.0602	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	B	0.43123	0.409	T	0.25222	-1.0138	9	0.62326	D	0.03	-8.7862	9.3099	0.37898	0.0:0.771:0.0:0.229	.	77	Q9HBI5	CC014_HUMAN	W	77	.	ENSP00000232519:R77W	R	+	1	2	C3orf14	62292091	0.005000	0.15991	0.000000	0.03702	0.874000	0.50279	0.593000	0.23999	0.445000	0.26639	0.644000	0.83932	CGG	C3orf14	-	NULL	ENSG00000114405		0.388	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf14	HGNC	protein_coding	OTTHUMT00000351807.1		0	47	0	C	NM_020685		62317051	1			no_errors	ENST00000232519	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.011	T	T	62317051	C	T	62317051	3	4	57	1	0	0	0	0	1	0	0	0	2215	527	19	1	239	1	C3orf14	3	62317051	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	5035604	62317051	135705379	100	14098											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64532485	64532485	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacagggcagtccctcagGtaacaggggtgaacactggg	11	5	16	9	0	1	2	1	1	0	1	2	3	2	2	1	5	2	2	1	5	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:64532485G>T	ENST00000498707.1	-	32	5355	c.5013C>A	c.(5011-5013)taC>taA	p.Y1671*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Y1643*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1671	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		AGTCCCTCAGGTAACAGGGGT	0.552																																																	0													112	111	111					3																	64532485		2203	4300	6503	SO:0001587	stop_gained	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5013C>A	3.37:g.64532485G>T	ENSP00000418735:p.Tyr1671*		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y1671*	ENST00000498707.1	37	c.5013	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.893559|6.893559	0.97916|0.97916	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|.	.|.	.|.	5.36|5.36	4.48|4.48	0.54585|0.54585	.|.	.|0.417151	.|0.24301	.|N	.|0.039737	T|.	0.33206|.	0.0855|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.15150|.	-1.0447|.	4|.	.|0.02654	.|T	.|1	.|.	11.7904|11.7904	0.52065|0.52065	0.1395:0.0:0.8605:0.0|0.1395:0.0:0.8605:0.0	.|.	.|.	.|.	.|.	N|X	727|1643;1671	.|.	.|ENSP00000295903:Y1643X	T|Y	-|-	2|3	0|2	ADAMTS9|ADAMTS9	64507525|64507525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	2.451000|2.451000	0.44952|0.44952	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	ACC|TAC	ADAMTS9	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.552	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	56	0	G			64532485	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T	T	64532485	G	T	64532485	4	4	57	1	0	0	0	0	0	1	0	0	273	1256	44	3	826	3	ADAMTS9	3	64532485	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2215434	64532485	133489945	101	14099											
KPNA1	3836	genome.wustl.edu	37	chr3	122180154	122180154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgataacttcatcaatagGagggttaggttctgtttccc	9	14	10	8	0	3	1	2	1	1	0	4	2	4	2	1	3	1	4	1	3	4	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:122180154G>T	ENST00000344337.6	-	5	525	c.349C>A	c.(349-351)Cct>Act	p.P117T	KPNA1_ENST00000466923.1_5'Flank	NM_002264.3	NP_002255.3	P52294	IMA5_HUMAN	karyopherin alpha 1 (importin alpha 5)	117					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TCATCAATAGGAGGGTTAGGT	0.378																																					Melanoma(12;340 801 11196 19797)												0													69	70	70					3																	122180154		2203	4300	6503	SO:0001583	missense	0			S75295	CCDS3013.1	3q21	2013-02-14			ENSG00000114030	ENSG00000114030		"Importins", "Armadillo repeat containing"	6394	protein-coding gene	gene with protein product		600686				8052633	Standard	NM_002264		Approved	SRP1, RCH2, NPI-1, IPOA5	uc003efe.2	P52294	OTTHUMG00000159487	ENST00000344337.6:c.349C>A	3.37:g.122180154G>T	ENSP00000343701:p.Pro117Thr		D3DN93|Q6IBQ9|Q9BQ56	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.P117T	ENST00000344337.6	37	c.349	CCDS3013.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614906	0.87359	.	.	ENSG00000114030	ENST00000344337;ENST00000465882;ENST00000482287;ENST00000476916;ENST00000493510	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.1	5.1	0.69264	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85230	0.5649	M	0.94101	3.495	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	D	0.88933	0.3374	10	0.87932	D	0	-12.5199	18.0465	0.89334	0.0:0.0:1.0:0.0	.	117	P52294	IMA1_HUMAN	T	117	ENSP00000343701:P117T;ENSP00000419890:P117T;ENSP00000417166:P117T;ENSP00000417319:P117T;ENSP00000419257:P117T	ENSP00000343701:P117T	P	-	1	0	KPNA1	123662844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.569000	0.98170	2.805000	0.96524	0.655000	0.94253	CCT	KPNA1	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114030		0.378	KPNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA1	HGNC	protein_coding	OTTHUMT00000355740.1		0	39	0	G	NM_002264		122180154	-1			no_errors	ENST00000344337	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T	T	122180154	G	T	122180154	3	4	57	1	0	0	0	0	1	0	0	0	8456	1174	41	3	1307	3	KPNA1	3	122180154	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	57647669	122180154	75842276	102	14100											
CPNE4	131034	genome.wustl.edu	37	chr3	131274342	131274342	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctccactcactcaccGtgtactctggaggtatcctg	8	11	7	15	1	4	0	2	0	2	0	6	1	5	1	3	2	1	2	3	2	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:131274342G>A	ENST00000512055.1	-	16	3241	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	CPNE4_ENST00000512332.1_Splice_Site_p.T390M|CPNE4_ENST00000502818.1_Splice_Site_p.T390M|CPNE4_ENST00000429747.1_Splice_Site_p.T372M|CPNE4_ENST00000511604.1_Splice_Site_p.T372M			Q96A23	CPNE4_HUMAN	copine IV	372	VWFA.					extracellular vesicular exosome (GO:0070062)		p.T372M(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTCACTCACCGTGTACTCTGG	0.443																																																	1	Substitution - Missense(1)	endometrium(1)											120	105	110					3																	131274342		2203	4300	6503	SO:0001630	splice_region_variant	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1116+1C>T	3.37:g.131274342G>A			D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.T390M	ENST00000512055.1	37	c.1169	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914148	0.72983	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	5.61	5.61	0.85477	von Willebrand factor, type A (1);Copine (1);	0.136441	0.64402	D	0.000004	T	0.26085	0.0636	N	0.25332	0.735	0.44500	D	0.997446	P;P	0.48589	0.912;0.87	P;P	0.49140	0.594;0.601	T	0.01225	-1.1413	10	0.62326	D	0.03	-18.8642	11.9827	0.53129	0.0:0.0:0.7226:0.2774	.	390;372	Q96A23-2;Q96A23	.;CPNE4_HUMAN	M	372;372;390;372;390	ENSP00000421705:T372M;ENSP00000411904:T372M;ENSP00000424853:T390M;ENSP00000423811:T372M;ENSP00000421646:T390M	ENSP00000411904:T372M	T	-	2	0	CPNE4	132757032	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.392000	0.73213	2.636000	0.89361	0.655000	0.94253	ACG	CPNE4	-	pfam_Copine,smart_VWF_A	ENSG00000196353		0.443	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4		0	24	0	G	NM_130808	Missense_Mutation	131274342	-1			no_errors	ENST00000502818	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	A	A	131274342	G	A	131274342	5	1	57	1	0	0	0	0	0	0	1	0	3821	1159	40	1	578	1	CPNE4	3	131274342	Splice_Site	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9094188	131274342	66748088	103	14101											
TRPC1	7220	genome.wustl.edu	37	chr3	142524994	142524994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaacgaactgcgccaaGatctgtcaaaattccgaaat	16	9	6	10	3	3	1	1	0	2	1	4	3	4	1	2	0	3	0	2	0	7	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:142524994G>T	ENST00000476941.1	+	13	2785	c.2299G>T	c.(2299-2301)Gat>Tat	p.D767Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.D733Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	767					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACTGCGCCAAGATCTGTCAAA	0.378																																																	0													90	89	89					3																	142524994		2203	4300	6503	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2299G>T	3.37:g.142524994G>T	ENSP00000419313:p.Asp767Tyr		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D767Y	ENST00000476941.1	37	c.2299	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250892	0.80135	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.89196	-2.48;-2.48	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.95294	0.8473	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.95518	0.8592	10	0.87932	D	0	-3.8352	19.5907	0.95509	0.0:0.0:1.0:0.0	.	767;733	P48995;P48995-2	TRPC1_HUMAN;.	Y	767;733	ENSP00000419313:D767Y;ENSP00000273482:D733Y	ENSP00000273482:D733Y	D	+	1	0	TRPC1	144007684	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.455000	0.97625	2.642000	0.89623	0.563000	0.77884	GAT	TRPC1	-	tigrfam_TRP_channel	ENSG00000144935		0.378	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1		0	34	0	G	NM_003304		142524994	1			no_errors	ENST00000476941	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	142524994	G	T	142524994	3	4	57	1	0	0	0	0	1	0	0	0	16626	942	33	3	2243	3	TRPC1	3	142524994	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11250652	142524994	55497436	104	14102											
IGSF10	285313	genome.wustl.edu	37	chr3	151174850	151174850	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgagaaggtcttgtcaggGattgtgtgaatgccattgct	8	14	13	6	0	3	2	1	2	2	1	3	4	3	3	1	2	2	1	1	2	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:151174850G>T	ENST00000282466.3	-	2	287	c.288C>A	c.(286-288)atC>atA	p.I96I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTGTCAGGGATTGTGTGAA	0.468																																																	0													126	111	116					3																	151174850		2203	4300	6503	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.288C>A	3.37:g.151174850G>T			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I96	ENST00000282466.3	37	c.288	CCDS3160.1	3																																																																																			IGSF10	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000152580		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	72	0	G	NM_178822		151174850	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.939	T	T	151174850	G	T	151174850	2	4	57	1	0	0	0	0	0	0	0	1	7624	1164	41	3		3	IGSF10	3	151174850	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8649856	151174850	46847580	105	14103											
GMPS	8833	genome.wustl.edu	37	chr3	155611380	155611380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgtcattctggatgctgGtgctcagtacgggaaagtca	8	13	13	7	1	4	0	3	0	1	0	4	2	4	2	0	3	3	4	0	3	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr3:155611380G>T	ENST00000496455.2	+	2	436	c.101G>T	c.(100-102)gGt>gTt	p.G34V	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	34	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	CTGGATGCTGGTGCTCAGTAC	0.453			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													97	96	97					3																	155611380		1984	4168	6152	SO:0001583	missense	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.101G>T	3.37:g.155611380G>T	ENSP00000419851:p.Gly34Val		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.G34V	ENST00000496455.2	37	c.101	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.291946	0.95546	.	.	ENSG00000163655	ENST00000496455;ENST00000541628	D	0.90955	-2.76	5.93	5.93	0.95920	Glutamine amidotransferase type 1 (2);GMP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98572	1.0646	10	0.87932	D	0	-17.6148	20.334	0.98729	0.0:0.0:1.0:0.0	.	34	P49915	GUAA_HUMAN	V	34	ENSP00000419851:G34V	ENSP00000419851:G34V	G	+	2	0	GMPS	157094074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.597000	0.98273	2.808000	0.96608	0.551000	0.68910	GGT	GMPS	-	pfam_GATASE,tigrfam_GMP_synth_N	ENSG00000163655		0.453	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2		0	67	0	G			155611380	1			no_errors	ENST00000496455	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	155611380	G	T	155611380	3	4	57	1	0	0	0	0	1	0	0	0	6524	1261	44	3	107	3	GMPS	3	155611380	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4436530	155611380	42411050	106	14104											
MAN2B2	23324	genome.wustl.edu	37	chr4	6612661	6612661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggcaaaagcaggcttGtgttgctgtcggagcgggca	9	8	17	7	2	0	0	0	0	0	0	1	2	0	2	0	5	3	6	0	5	2	2	rs142546556		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:6612661G>T	ENST00000285599.3	+	14	2350	c.2314G>T	c.(2314-2316)Gtg>Ttg	p.V772L	MAN2B2_ENST00000504248.1_Missense_Mutation_p.V721L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	772					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V772M(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AAGCAGGCTTGTGTTGCTGTC	0.602																																																	1	Substitution - Missense(1)	prostate(1)											150	133	139					4																	6612661		2203	4300	6503	SO:0001583	missense	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2314G>T	4.37:g.6612661G>T	ENSP00000285599:p.Val772Leu		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.V772L	ENST00000285599.3	37	c.2314	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.563238|2.563238	0.45694|0.45694	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	D|T;T	0.87887|0.80033	-2.31|-1.33;-1.33	4.88|4.88	4.02|4.02	0.46733|0.46733	.|Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	.|0.191506	.|0.44483	.|D	.|0.000458	D|D	0.84188|0.84188	0.5417|0.5417	M|M	0.80183|0.80183	2.485|2.485	0.41906|0.41906	D|D	0.990441|0.990441	.|P;D;P	.|0.55605	.|0.951;0.972;0.57	.|P;P;B	.|0.51701	.|0.583;0.677;0.198	D|D	0.85280|0.85280	0.1061|0.1061	7|10	0.52906|0.49607	T|T	0.07|0.09	-38.8349|-38.8349	10.1936|10.1936	0.43041|0.43041	0.1603:0.0:0.8397:0.0|0.1603:0.0:0.8397:0.0	.|.	.|721;772;772	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	F|L	770|772;721	ENSP00000426273:L770F|ENSP00000285599:V772L;ENSP00000423129:V721L	ENSP00000426273:L770F|ENSP00000285599:V772L	L|V	+|+	3|1	2|0	MAN2B2|MAN2B2	6663562|6663562	0.985000|0.985000	0.35326|0.35326	0.978000|0.978000	0.43139|0.43139	0.071000|0.071000	0.16799|0.16799	1.047000|1.047000	0.30367|0.30367	2.264000|2.264000	0.75181|0.75181	0.561000|0.561000	0.74099|0.74099	TTG|GTG	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000013288		0.602	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	-	0	68	0	G	NM_015274		6612661	1	tier1	-	no_errors	ENST00000285599	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.986	T	T	6612661	G	T	6612661	3	4	57	1	0	0	0	0	1	0	0	0	9255	1377	48	3	2368	3	MAN2B2	4	6612661	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		6612661	184541615	107	14105											
GABRA4	2557	genome.wustl.edu	37	chr4	46930343	46930343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggaaagagaatacgggCatatttgtctattttacttg	12	14	10	5	1	1	1	0	0	1	1	1	4	1	2	0	2	2	1	0	2	6	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:46930343C>A	ENST00000264318.3	-	9	2546	c.1564G>T	c.(1564-1566)Gcc>Tcc	p.A522S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	522					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGAATACGGGCATATTTGTCT	0.418																																					Ovarian(6;283 369 8234 12290 33402)												0													116	114	115					4																	46930343		2203	4300	6503	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1564G>T	4.37:g.46930343C>A	ENSP00000264318:p.Ala522Ser		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A522S	ENST00000264318.3	37	c.1564	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454334	0.26161	.	.	ENSG00000109158	ENST00000264318	D	0.84516	-1.86	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.77824	0.4188	N	0.20986	0.625	0.47009	D	0.999286	P	0.39443	0.674	B	0.41860	0.368	T	0.74500	-0.3645	10	0.02654	T	1	.	19.1024	0.93279	0.0:1.0:0.0:0.0	.	522	P48169	GBRA4_HUMAN	S	522	ENSP00000264318:A522S	ENSP00000264318:A522S	A	-	1	0	GABRA4	46625100	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.623000	0.61247	2.765000	0.95021	0.650000	0.86243	GCC	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.418	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	-	0	48	0	C			46930343	-1	tier1	-	no_errors	ENST00000264318	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	A	A	46930343	C	A	46930343	3	1	57	1	0	0	0	0	1	0	0	0	6187	710	25	3	104	3	GABRA4	4	46930343	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	40317682	46930343	144223933	108	14106											
TXK	7294	genome.wustl.edu	37	chr4	48088568	48088568	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacctggatatgtgaccGccattcacctaaatggacca	12	9	8	12	1	1	1	1	1	0	0	1	3	1	3	5	2	2	1	5	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:48088568G>T	ENST00000264316.4	-	10	956	c.871C>A	c.(871-873)Cgg>Agg	p.R291R	TXK_ENST00000510457.1_5'Flank	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATATGTGACCGCCATTCACCT	0.418																																																	0													204	172	183					4																	48088568		2203	4300	6503	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.871C>A	4.37:g.48088568G>T			Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R291	ENST00000264316.4	37	c.871	CCDS3480.1	4																																																																																			TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000074966		0.418	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7		0	70	0	G	NM_003328		48088568	-1			no_errors	ENST00000264316	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.997	T	T	48088568	G	T	48088568	2	4	57	1	0	0	0	0	0	0	0	1	16835	1086	38	2		2	TXK	4	48088568	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1158225	48088568	143065708	109	14107											
FRYL	285527	genome.wustl.edu	37	chr4	48567034	48567034	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctacattatctgcaacaggGccacaacacagtacagcaga	15	6	7	13	0	1	1	0	0	1	1	1	1	1	1	2	1	6	3	2	1	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:48567034G>T	ENST00000503238.1	-	27	3356	c.3357C>A	c.(3355-3357)ggC>ggA	p.G1119G	FRYL_ENST00000537810.1_Silent_p.G1119G|FRYL_ENST00000358350.4_Silent_p.G1119G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.G1119G			O94915	FRYL_HUMAN	FRY-like	1119					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCAACAGGGCCACAACACA	0.333																																																	0													107	101	103					4																	48567034		1892	4123	6015	SO:0001819	synonymous_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3357C>A	4.37:g.48567034G>T			O95640|Q8WTZ5|Q9NT40	Silent	SNP	superfamily_ARM-type_fold	p.G1119	ENST00000503238.1	37	c.3357	CCDS43227.1	4																																																																																			FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	40	0	G			48567034	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	T	T	48567034	G	T	48567034	2	4	57	1	0	0	0	0	0	0	0	1	6088	1190	42	3		3	FRYL	4	48567034	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	478466	48567034	142587242	110	14108											
WDFY3	23001	genome.wustl.edu	37	chr4	85645675	85645675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgtcttggacaatggcggGattgccagaggccagtcgca	8	7	16	10	3	1	1	0	0	1	1	2	3	1	3	2	5	1	1	2	5	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:85645675G>T	ENST00000295888.4	-	46	7752	c.7345C>A	c.(7345-7347)Ccc>Acc	p.P2449T	WDFY3_ENST00000322366.6_Missense_Mutation_p.P2432T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2449	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACAATGGCGGGATTGCCAGAG	0.458																																																	0													128	126	127					4																	85645675		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7345C>A	4.37:g.85645675G>T	ENSP00000295888:p.Pro2449Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P2449T	ENST00000295888.4	37	c.7345	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809738	0.50421	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.64085	-0.08;-0.05;0.0	6.07	4.28	0.50868	.	0.102393	0.64402	D	0.000002	T	0.56426	0.1984	L	0.50333	1.59	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.49826	-0.8898	10	0.20046	T	0.44	.	16.6628	0.85245	0.0:0.2448:0.7552:0.0	.	2449	Q8IZQ1	WDFY3_HUMAN	T	2432;2449;52	ENSP00000318466:P2432T;ENSP00000295888:P2449T;ENSP00000424987:P52T	ENSP00000295888:P2449T	P	-	1	0	WDFY3	85864699	1.000000	0.71417	0.056000	0.19401	0.852000	0.48524	4.001000	0.57046	0.818000	0.34468	0.655000	0.94253	CCC	WDFY3	-	NULL	ENSG00000163625		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	43	0	G	NM_014991		85645675	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.995	T	T	85645675	G	T	85645675	3	4	57	1	0	0	0	0	1	0	0	0	17319	1174	41	3	3327	3	WDFY3	4	85645675	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	37078641	85645675	105508601	111	14109											
HERC6	55008	genome.wustl.edu	37	chr4	89338611	89338611	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcaagaatcttctctGaatccgctgatccagatgct	9	15	7	10	1	2	4	0	2	2	2	5	4	4	4	2	0	2	3	2	0	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:89338611G>T	ENST00000264346.7	+	13	1652	c.1593G>T	c.(1591-1593)ctG>ctT	p.L531L	HERC6_ENST00000380265.5_Silent_p.L531L	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	531					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AATCTTCTCTGAATCCGCTGA	0.413																																																	0													68	62	64					4																	89338611		1862	4087	5949	SO:0001819	synonymous_variant	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1593G>T	4.37:g.89338611G>T			B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L531	ENST00000264346.7	37	c.1593	CCDS47098.1	4																																																																																			HERC6	-	NULL	ENSG00000138642		0.413	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	-	0	51	0	G			89338611	1	tier1	-	no_errors	ENST00000264346	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.582	T	T	89338611	G	T	89338611	2	4	57	1	0	0	0	0	0	0	0	1	7089	1277	45	3		3	HERC6	4	89338611	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3692936	89338611	101815665	112	14110											
CYP2U1	113612	genome.wustl.edu	37	chr4	108870547	108870547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaaaggcacattgatcttaCccaacctgtggtcagtacat	12	11	7	11	0	2	1	1	1	1	0	2	1	2	1	2	2	3	2	2	2	5	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:108870547C>T	ENST00000332884.6	+	4	1605	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.P235S	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	444					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATTGATCTTACCCAACCTGTG	0.408																																																	0													106	100	102					4																	108870547		2203	4300	6503	SO:0001583	missense	0			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1330C>T	4.37:g.108870547C>T	ENSP00000333212:p.Pro444Ser		B2RMV7|Q96EQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.P444S	ENST00000332884.6	37	c.1330	CCDS34047.1	4	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295675	0.40594	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.68765	-0.35;-0.35	6.08	3.23	0.37069	.	0.205916	0.52532	D	0.000078	T	0.68375	0.2994	L	0.49455	1.56	0.40296	D	0.978558	B	0.28636	0.218	B	0.42386	0.386	T	0.67726	-0.5596	10	0.40728	T	0.16	.	13.9956	0.64397	0.1014:0.583:0.3156:0.0	.	444	Q7Z449	CP2U1_HUMAN	S	444;401;235	ENSP00000333212:P444S;ENSP00000423667:P235S	ENSP00000333212:P444S	P	+	1	0	CYP2U1	109089996	0.998000	0.40836	0.563000	0.28383	0.170000	0.22686	3.754000	0.55189	0.872000	0.35775	-0.175000	0.13238	CCC	CYP2U1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B	ENSG00000155016		0.408	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	-	0	41	0	C	NM_183075		108870547	1	tier1	-	no_errors	ENST00000332884	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.813	T	T	108870547	C	T	108870547	3	4	57	1	0	0	0	0	1	0	0	0	4184	507	18	3	1344	3	CYP2U1	4	108870547	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	19531936	108870547	82283729	113	14111											
ANK2	287	genome.wustl.edu	37	chr4	114161692	114161692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attacggaaatgtcaacgtgGcaactcttcttctaaaccgg	12	11	8	10	3	4	0	1	0	3	0	4	1	4	1	1	3	4	1	1	3	6	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:114161692G>T	ENST00000357077.4	+	8	798	c.745G>T	c.(745-747)Gca>Tca	p.A249S	ANK2_ENST00000394537.3_Missense_Mutation_p.A249S|ANK2_ENST00000506722.1_Missense_Mutation_p.A228S|ANK2_ENST00000264366.6_Missense_Mutation_p.A249S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	249					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTCAACGTGGCAACTCTTCT	0.403																																																	0													145	136	139					4																	114161692		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.745G>T	4.37:g.114161692G>T	ENSP00000349588:p.Ala249Ser		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.A249S	ENST00000357077.4	37	c.745	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875717	0.91664	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.66099	-0.19;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.000000	0.47455	D	0.000231	T	0.77565	0.4149	L	0.57130	1.785	0.80722	D	1	D;P;D;B;D	0.67145	0.972;0.622;0.966;0.421;0.996	P;P;D;B;D	0.80764	0.895;0.552;0.91;0.163;0.994	T	0.78368	-0.2231	10	0.72032	D	0.01	.	19.3646	0.94456	0.0:0.0:1.0:0.0	.	249;249;249;228;228	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	228;228;228;264;249;249;249;228	ENSP00000423799:A228S;ENSP00000421011:A228S;ENSP00000421067:A228S;ENSP00000424722:A264S;ENSP00000378044:A249S;ENSP00000349588:A249S;ENSP00000264366:A249S	ENSP00000264366:A249S	A	+	1	0	ANK2	114381141	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	4.813000	0.62620	2.740000	0.93945	0.650000	0.86243	GCA	ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	55	0	G	NM_001148		114161692	1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	114161692	G	T	114161692	3	4	57	1	0	0	0	0	1	0	0	0	621	1203	42	3	800	3	ANK2	4	114161692	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5291145	114161692	76992584	114	14112											
NDST4	64579	genome.wustl.edu	37	chr4	115769397	115769397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctttgtgatagttgttGccattaaagaactgaacttc	11	16	7	7	0	0	3	0	2	0	1	2	3	1	3	2	0	3	2	2	0	5	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:115769397G>T	ENST00000264363.2	-	9	2592	c.1914C>A	c.(1912-1914)ggC>ggA	p.G638G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	638	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GATAGTTGTTGCCATTAAAGA	0.338																																																	0													159	151	154					4																	115769397		2203	4298	6501	SO:0001819	synonymous_variant	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1914C>A	4.37:g.115769397G>T			Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.G638	ENST00000264363.2	37	c.1914	CCDS3706.1	4																																																																																			NDST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000138653		0.338	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0	66	0	G	NM_022569		115769397	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.114	T	T	115769397	G	T	115769397	2	4	57	1	0	0	0	0	0	0	0	1	10297	1306	46	3		3	NDST4	4	115769397	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1607705	115769397	75384879	115	14113											
ARHGAP10	79658	genome.wustl.edu	37	chr4	148796191	148796191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacacggaatcgatttgaagGaacaaggtcagaagtggaag	16	6	14	5	2	1	2	1	1	0	1	2	7	1	5	0	4	1	0	0	4	6	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:148796191G>T	ENST00000336498.3	+	8	961	c.722G>T	c.(721-723)gGa>gTa	p.G241V		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CGATTTGAAGGAACAAGGTCA	0.383																																																	0													98	93	95					4																	148796191		2203	4300	6503	SO:0001583	missense	0			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"Rho GTPase activating proteins"	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.722G>T	4.37:g.148796191G>T	ENSP00000336923:p.Gly241Val		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.G241V	ENST00000336498.3	37	c.722	CCDS34075.1	4	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300895	0.60195	.	.	ENSG00000071205	ENST00000336498	T	0.03831	3.79	4.85	4.0	0.46444	.	0.052397	0.85682	D	0.000000	T	0.16085	0.0387	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.00341	-1.1804	10	0.72032	D	0.01	.	12.8145	0.57657	0.08:0.0:0.92:0.0	.	241	A1A4S6	RHG10_HUMAN	V	241	ENSP00000336923:G241V	ENSP00000336923:G241V	G	+	2	0	ARHGAP10	149015641	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.974000	0.70465	1.154000	0.42482	0.650000	0.86243	GGA	ARHGAP10	-	NULL	ENSG00000071205		0.383	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1		0	26	0	G	NM_024605		148796191	1			no_errors	ENST00000336498	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	148796191	G	T	148796191	3	4	57	1	0	0	0	0	1	0	0	0	862	1174	41	3	752	3	ARHGAP10	4	148796191	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	33026794	148796191	42358085	116	14114											
DCHS2	54798	genome.wustl.edu	37	chr4	155156925	155156925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgatttgggactatgaGcgattattttcatttccaag	11	16	8	6	1	2	2	1	2	1	0	3	4	3	3	1	1	1	0	1	1	4	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:155156925G>T	ENST00000357232.4	-	25	7513	c.7514C>A	c.(7513-7515)gCt>gAt	p.A2505D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2505	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGACTATGAGCGATTATTTT	0.388																																																	0													96	100	99					4																	155156925		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7514C>A	4.37:g.155156925G>T	ENSP00000349768:p.Ala2505Asp		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A2505D	ENST00000357232.4	37	c.7514	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298167	0.81025	.	.	ENSG00000197410	ENST00000357232	T	0.76060	-0.99	5.71	5.71	0.89125	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000001	D	0.89283	0.6671	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.90751	0.4657	10	0.87932	D	0	.	19.8596	0.96778	0.0:0.0:1.0:0.0	.	2505	Q6V1P9	PCD23_HUMAN	D	2505	ENSP00000349768:A2505D	ENSP00000349768:A2505D	A	-	2	0	DCHS2	155376375	1.000000	0.71417	0.857000	0.33713	0.846000	0.48090	7.881000	0.87252	2.696000	0.92011	0.467000	0.42956	GCT	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.388	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	55	0	G	NM_001142552		155156925	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	155156925	G	T	155156925	3	4	57	1	0	0	0	0	1	0	0	0	4297	971	34	3	1240	3	DCHS2	4	155156925	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6360734	155156925	35997351	117	14115											
WDR17	116966	genome.wustl.edu	37	chr4	177094439	177094439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacatcagtagctcagactGgactttggataccatatacc	13	11	7	10	0	2	1	2	0	0	1	2	3	2	3	2	2	4	2	2	2	5	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr4:177094439G>T	ENST00000280190.4	+	27	3539	c.3383G>T	c.(3382-3384)tGg>tTg	p.W1128L	WDR17_ENST00000393643.2_Missense_Mutation_p.W1104L|WDR17_ENST00000508596.1_Missense_Mutation_p.W1089L|WDR17_ENST00000507824.2_Missense_Mutation_p.W1103L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1128										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTCAGACTGGACTTTGGAT	0.318																																																	0													90	87	88					4																	177094439		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3383G>T	4.37:g.177094439G>T	ENSP00000280190:p.Trp1128Leu		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W1128L	ENST00000280190.4	37	c.3383	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456344	0.63401	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60797	0.18;0.23;0.16	5.58	5.58	0.84498	.	0.084810	0.52532	N	0.000065	T	0.76955	0.4060	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.993;0.993	T	0.78635	-0.2127	10	0.87932	D	0	-2.2038	19.5494	0.95311	0.0:0.0:1.0:0.0	.	1104;1089;1128	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	L	1089;1104;1128;1104	ENSP00000422763:W1089L;ENSP00000377258:W1104L;ENSP00000280190:W1128L	ENSP00000280190:W1128L	W	+	2	0	WDR17	177331433	1.000000	0.71417	0.989000	0.46669	0.192000	0.23643	8.893000	0.92498	2.628000	0.89032	0.585000	0.79938	TGG	WDR17	-	NULL	ENSG00000150627		0.318	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0	58	0	G			177094439	1			no_errors	ENST00000280190	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	177094439	G	T	177094439	3	4	57	1	0	0	0	0	1	0	0	0	17326	1357	47	3	3485	3	WDR17	4	177094439	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	21937514	177094439	14059837	118	14116											
SDHA	6389	genome.wustl.edu	37	chr5	225570	225570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctggggaacatggaggagGacaactggaggtggcatttc	10	8	16	7	0	1	0	0	0	1	0	2	5	1	5	0	8	2	1	0	8	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:225570G>T	ENST00000264932.6	+	4	464	c.349G>T	c.(349-351)Gac>Tac	p.D117Y	SDHA_ENST00000504309.1_Missense_Mutation_p.D117Y|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	117					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CATGGAGGAGGACAACTGGAG	0.592									Familial Paragangliomas																																								0													68	75	73					5																	225570		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.349G>T	5.37:g.225570G>T	ENSP00000264932:p.Asp117Tyr		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.D117Y	ENST00000264932.6	37	c.349	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	-	27.9	4.868677	0.91587	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309	T;T	0.79352	-1.26;-1.26	5.27	5.27	0.74061	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.94059	0.8096	H	0.99777	4.77	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96672	0.9497	10	0.87932	D	0	.	16.8084	0.85712	0.0:0.0:1.0:0.0	.	117;117;117;123	B4DYN5;D6RFM5;P31040;Q59GW8	.;.;DHSA_HUMAN;.	Y	117	ENSP00000264932:D117Y;ENSP00000426514:D117Y	ENSP00000264932:D117Y	D	+	1	0	SDHA	278570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.125000	0.94402	2.645000	0.89757	0.644000	0.83932	GAC	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	-	0	206	0	G	NM_004168		225570	1	tier1	-	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	5.99	157	10	SNP	1.000	T	T	225570	G	T	225570	3	4	57	1	0	0	0	0	1	0	0	0	14008	1174	41	3	363	3	SDHA	5	225570	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		225570	180689690	119	14117											
TERT	7015	genome.wustl.edu	37	chr5	1278870	1278870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggcgatgacctccgtgagCctgtcctgggggatggtgtc	4	10	16	11	2	0	2	0	2	0	0	3	4	2	3	4	4	1	0	4	4	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:1278870C>T	ENST00000310581.5	-	6	2229	c.2172G>A	c.(2170-2172)agG>agA	p.R724R	TERT_ENST00000334602.6_Silent_p.R724R|TERT_ENST00000296820.5_Silent_p.R724R|TERT_ENST00000508104.2_Silent_p.R724R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	724	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CCTCCGTGAGCCTGTCCTGGG	0.622									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0													262	237	245					5																	1278870		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2172G>A	5.37:g.1278870C>T			O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.R724	ENST00000310581.5	37	c.2172	CCDS3861.2	5																																																																																			TERT	-	pfam_RVT,pfscan_RVT	ENSG00000164362		0.622	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2		0	86	0	C			1278870	-1			no_errors	ENST00000310581	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.656	T	T	1278870	C	T	1278870	2	4	57	1	0	0	0	0	0	0	0	1	15811	738	26	3		3	TERT	5	1278870	Silent	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1053300	1278870	179636390	120	14118											
DNAH5	1767	genome.wustl.edu	37	chr5	13769168	13769168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgctgtccacaatggcctgGgccctgtccttcaccttctg	5	12	9	15	0	2	0	1	0	1	0	4	0	4	0	5	2	1	1	5	2	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:13769168G>T	ENST00000265104.4	-	58	9902	c.9798C>A	c.(9796-9798)gcC>gcA	p.A3266A	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3266	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAATGGCCTGGGCCCTGTCCT	0.453									Kartagener syndrome																																								0													311	302	305					5																	13769168		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9798C>A	5.37:g.13769168G>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A3266	ENST00000265104.4	37	c.9798	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	45	0	G	NM_001369		13769168	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.994	T	T	13769168	G	T	13769168	2	4	57	1	0	0	0	0	0	0	0	1	4618	1219	43	3		3	DNAH5	5	13769168	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	12490298	13769168	167146092	121	14119											
CDH10	1008	genome.wustl.edu	37	chr5	24511519	24511519	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtcaccatcaataattcGgtattctacttcagcatttt	11	15	4	11	2	4	0	3	0	1	0	5	0	4	0	2	1	2	2	2	1	4	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:24511519G>A	ENST00000264463.4	-	6	1426	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	307	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCAATAATTCGGTATTCTACT	0.438										HNSCC(23;0.051)																																							0													226	184	198					5																	24511519		2203	4300	6503	SO:0001587	stop_gained	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.919C>T	5.37:g.24511519G>A	ENSP00000264463:p.Arg307*		Q9ULB3	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R307*	ENST00000264463.4	37	c.919	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.947654	0.98577	.	.	ENSG00000040731	ENST00000264463	.	.	.	5.22	4.26	0.50523	.	0.052802	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	10.242	0.43319	0.0:0.0:0.6039:0.3961	.	.	.	.	X	307	.	ENSP00000264463:R307X	R	-	1	2	CDH10	24547276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.656000	0.54467	2.410000	0.81850	0.650000	0.86243	CGA	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.438	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	92	0	G	NM_006727		24511519	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	nonsense	46.03	34	29	SNP	1.000	A	A	24511519	G	A	24511519	4	1	57	1	0	0	0	0	0	1	0	0	3103	1124	39	1	1475	1	CDH10	5	24511519	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	10742351	24511519	156403741	122	14120											
C5orf42	65250	genome.wustl.edu	37	chr5	37183457	37183457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctaaacacattctggCttttagttttgctctgatgt	8	17	7	9	0	3	1	0	1	3	0	3	1	3	1	0	1	3	4	0	1	3	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:37183457C>T	ENST00000508244.1	-	25	4919	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	C5orf42_ENST00000425232.2_Missense_Mutation_p.S1609N|C5orf42_ENST00000274258.7_Missense_Mutation_p.S490N			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1609						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CACATTCTGGCTTTTAGTTTT	0.328																																																	0													144	136	138					5																	37183457		2203	4300	6503	SO:0001583	missense	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4826G>A	5.37:g.37183457C>T	ENSP00000421690:p.Ser1609Asn		A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.S1609N	ENST00000508244.1	37	c.4826	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	12.83	2.055854	0.36277	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.17	2.32	0.28847	.	0.513132	0.18051	N	0.153294	T	0.11537	0.0281	N	0.19112	0.55	0.25736	N	0.985214	B;B	0.20671	0.047;0.047	B;B	0.20955	0.032;0.032	T	0.20140	-1.0284	10	0.62326	D	0.03	.	3.5453	0.07826	0.1373:0.5838:0.1329:0.146	.	1609;490	E9PH94;Q9H799	.;CE042_HUMAN	N	1609;1609;490;657;490	ENSP00000421690:S1609N;ENSP00000389014:S1609N;ENSP00000274258:S490N;ENSP00000424223:S657N	ENSP00000274258:S490N	S	-	2	0	C5orf42	37219214	0.862000	0.29867	0.139000	0.22197	0.834000	0.47266	1.081000	0.30791	0.575000	0.29434	-0.136000	0.14681	AGC	C5orf42	-	NULL	ENSG00000197603		0.328	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	68	0	C	NM_023073		37183457	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.896	T	T	37183457	C	T	37183457	3	4	57	1	0	0	0	0	1	0	0	0	2308	797	28	3	4875	3	C5orf42	5	37183457	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	12671938	37183457	143731803	123	14121											
GZMK	3003	genome.wustl.edu	37	chr5	54327361	54327361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgttactgtcctaagtcGaaaactttgcaacagccaaa	14	10	6	11	1	0	0	0	0	0	0	2	1	1	0	2	0	5	2	2	0	6	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:54327361G>A	ENST00000231009.2	+	4	603	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	178	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GTCCTAAGTCGAAAACTTTGC	0.483																																																	0													87	84	85					5																	54327361		2203	4300	6503	SO:0001583	missense	0			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.533G>A	5.37:g.54327361G>A	ENSP00000231009:p.Arg178Gln		B2R563	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R178Q	ENST00000231009.2	37	c.533	CCDS3964.1	5	.	.	.	.	.	.	.	.	.	.	G	18.08	3.544371	0.65198	.	.	ENSG00000113088	ENST00000231009	D	0.88818	-2.43	5.16	5.16	0.70880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.065645	0.56097	D	0.000030	D	0.85885	0.5801	L	0.45422	1.42	0.46131	D	0.998884	B	0.29552	0.248	B	0.30401	0.115	T	0.83054	-0.0151	10	0.34782	T	0.22	.	17.571	0.87934	0.0:0.0:1.0:0.0	.	178	P49863	GRAK_HUMAN	Q	178	ENSP00000231009:R178Q	ENSP00000231009:R178Q	R	+	2	0	GZMK	54363118	0.998000	0.40836	0.743000	0.31040	0.600000	0.36913	4.329000	0.59260	2.689000	0.91719	0.655000	0.94253	CGA	GZMK	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000113088		0.483	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1		0	32	0	G	NM_002104		54327361	1			no_errors	ENST00000231009	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.996	A	A	54327361	G	A	54327361	3	1	57	1	0	0	0	0	1	0	0	0	6945	1058	37	1	547	1	GZMK	5	54327361	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	17143904	54327361	126587899	124	14122											
PDE4D	5144	genome.wustl.edu	37	chr5	58270610	58270610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtagactctgagtcttGagtacaaagagtcttggagt	11	13	11	6	0	4	4	1	2	3	2	4	5	4	5	0	1	1	2	0	1	3	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:58270610G>T	ENST00000340635.6	-	15	2486	c.2311C>A	c.(2311-2313)Caa>Aaa	p.Q771K	PDE4D_ENST00000507116.1_Missense_Mutation_p.Q707K|PDE4D_ENST00000503258.1_Missense_Mutation_p.Q641K|PDE4D_ENST00000546160.1_Missense_Mutation_p.Q710K|PDE4D_ENST00000358923.6_Missense_Mutation_p.Q469K|PDE4D_ENST00000502484.2_Missense_Mutation_p.Q710K|PDE4D_ENST00000317118.8_Missense_Mutation_p.Q480K|PDE4D_ENST00000405755.2_Missense_Mutation_p.Q649K|PDE4D_ENST00000360047.5_Missense_Mutation_p.Q635K	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	771					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTGAGTCTTGAGTACAAAGA	0.473																																																	0													256	258	257					5																	58270610		1955	4150	6105	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.2311C>A	5.37:g.58270610G>T	ENSP00000345502:p.Gln771Lys		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.Q771K	ENST00000340635.6	37	c.2311	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	G	9.253	1.041214	0.19669	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160	T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.11;-0.12;0.09;0.09;-0.11;-0.11;-0.11;-0.11	5.22	5.22	0.72569	.	0.221237	0.47852	D	0.000207	T	0.64080	0.2566	N	0.22421	0.69	0.58432	D	0.999997	P;P;P;P;P;P;P;B	0.43578	0.811;0.713;0.811;0.811;0.811;0.811;0.811;0.091	P;P;P;P;P;P;P;B	0.60789	0.879;0.761;0.879;0.879;0.879;0.879;0.828;0.021	T	0.53322	-0.8455	10	0.06099	T	0.92	.	18.9581	0.92668	0.0:0.0:1.0:0.0	.	710;771;707;634;649;641;546;480	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	K	771;640;635;707;469;480;641;649;710;710	ENSP00000345502:Q771K;ENSP00000353152:Q635K;ENSP00000424852:Q707K;ENSP00000351800:Q469K;ENSP00000321739:Q480K;ENSP00000425605:Q641K;ENSP00000384806:Q649K;ENSP00000423094:Q710K;ENSP00000442734:Q710K	ENSP00000321739:Q480K	Q	-	1	0	PDE4D	58306367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.975000	0.93437	2.728000	0.93425	0.655000	0.94253	CAA	PDE4D	-	NULL	ENSG00000113448		0.473	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0	66	0	G			58270610	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	58270610	G	T	58270610	3	4	57	1	0	0	0	0	1	0	0	0	11681	1299	45	3	122	3	PDE4D	5	58270610	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3943249	58270610	122644650	125	14123											
MRPS36	92259	genome.wustl.edu	37	chr5	68524115	68524115	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaatcaccagatttgctGatgtatcagggtccaccaga	13	10	9	9	0	2	3	2	1	0	2	3	3	3	3	3	1	1	3	3	1	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:68524115G>T	ENST00000256441.4	+	3	265	c.195G>T	c.(193-195)ctG>ctT	p.L65L	MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR|MRPS36_ENST00000507022.1_3'UTR	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	65					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		CAGATTTGCTGATGTATCAGG	0.363																																																	0													95	101	99					5																	68524115		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34174.1	5q13.2	2013-09-20			ENSG00000134056	ENSG00000134056		"Mitochondrial ribosomal proteins / small subunits"	16631	protein-coding gene	gene with protein product		611996				11279123	Standard	NM_033281		Approved	DC47, MRP-S36	uc003jvq.3	P82909	OTTHUMG00000162443	ENST00000256441.4:c.195G>T	5.37:g.68524115G>T			Q9H2H4	Silent	SNP	NULL	p.L65	ENST00000256441.4	37	c.195	CCDS34174.1	5																																																																																			MRPS36	-	NULL	ENSG00000134056		0.363	MRPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS36	HGNC	protein_coding	OTTHUMT00000368940.1	-	0	32	0	G	NM_033281		68524115	1	tier1	-	no_errors	ENST00000256441	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.056	T	T	68524115	G	T	68524115	2	4	57	1	0	0	0	0	0	0	0	1	9883	1277	45	3		3	MRPS36	5	68524115	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	10253505	68524115	112391145	126	14124											
PDE8B	8622	genome.wustl.edu	37	chr5	76708044	76708044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatctttgaattggaaGccattacgcataaaaggtat	15	12	7	7	1	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	7	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:76708044G>T	ENST00000264917.5	+	16	1741	c.1696G>T	c.(1696-1698)Gcc>Tcc	p.A566S	PDE8B_ENST00000333194.4_Missense_Mutation_p.A511S|PDE8B_ENST00000346042.3_Missense_Mutation_p.A469S|PDE8B_ENST00000505283.1_Missense_Mutation_p.A31S|PDE8B_ENST00000342343.4_Missense_Mutation_p.A546S|PDE8B_ENST00000340978.3_Missense_Mutation_p.A519S	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	566					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TGAATTGGAAGCCATTACGCA	0.428																																																	0													155	135	142					5																	76708044		2203	4300	6503	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1696G>T	5.37:g.76708044G>T	ENSP00000264917:p.Ala566Ser		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.A566S	ENST00000264917.5	37	c.1696	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971340	0.53614	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000505283	T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.68	2.86	0.33363	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.202471	0.51477	N	0.000082	T	0.73241	0.3562	L	0.55743	1.74	0.53005	D	0.999966	B;B;B;B;B	0.32968	0.281;0.266;0.392;0.266;0.174	B;B;P;B;B	0.44946	0.39;0.215;0.465;0.215;0.107	T	0.63180	-0.6695	10	0.21014	T	0.42	.	9.7622	0.40539	0.0656:0.0:0.6834:0.251	.	469;519;511;546;566	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	S	519;469;566;546;511;31	ENSP00000345446:A519S;ENSP00000330428:A469S;ENSP00000264917:A566S;ENSP00000345646:A546S;ENSP00000331336:A511S;ENSP00000423461:A31S	ENSP00000264917:A566S	A	+	1	0	PDE8B	76743800	1.000000	0.71417	0.955000	0.39395	0.694000	0.40290	4.794000	0.62482	0.308000	0.22923	0.655000	0.94253	GCC	PDE8B	-	NULL	ENSG00000113231		0.428	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	-	0	31	0	G	NM_003719		76708044	1	tier1	-	no_errors	ENST00000264917	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	76708044	G	T	76708044	3	4	57	1	0	0	0	0	1	0	0	0	11693	971	34	3	1758	3	PDE8B	5	76708044	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8183929	76708044	104207216	127	14125											
GPR98	84059	genome.wustl.edu	37	chr5	90072353	90072353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctaggcacatcctcattGgggaaccctcagcaaaatat	13	9	7	12	0	3	0	2	0	1	0	4	1	4	1	2	3	2	2	2	3	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:90072353G>T	ENST00000405460.2	+	61	12583	c.12487G>T	c.(12487-12489)Ggg>Tgg	p.G4163W		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4163	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATCCTCATTGGGGAACCCTC	0.393																																																	0													115	114	115					5																	90072353		1902	4131	6033	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12487G>T	5.37:g.90072353G>T	ENSP00000384582:p.Gly4163Trp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G4163W	ENST00000405460.2	37	c.12487	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264365	0.59431	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.32272	1.46	5.13	5.13	0.70059	.	0.143619	0.64402	D	0.000007	T	0.55893	0.1949	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58674	-0.7595	10	0.72032	D	0.01	.	18.5543	0.91077	0.0:0.0:1.0:0.0	.	4163	Q8WXG9	GPR98_HUMAN	W	4163	ENSP00000384582:G4163W	ENSP00000296619:G4163W	G	+	1	0	GPR98	90108109	1.000000	0.71417	0.870000	0.34147	0.182000	0.23217	8.531000	0.90610	2.541000	0.85698	0.637000	0.83480	GGG	GPR98	-	NULL	ENSG00000164199		0.393	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	86	0	G	NM_032119		90072353	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.999	T	T	90072353	G	T	90072353	3	4	57	1	0	0	0	0	1	0	0	0	6748	1348	47	3	12729	3	GPR98	5	90072353	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13364309	90072353	90842907	128	14126											
FER	2241	genome.wustl.edu	37	chr5	108171443	108171443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggagaagttaaaatgcaGctatagacaattaataaaag	20	10	8	3	0	0	2	0	0	0	2	0	3	0	2	0	1	2	3	0	1	9	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:108171443G>T	ENST00000281092.4	+	5	800	c.416G>T	c.(415-417)aGc>aTc	p.S139I	FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.S139I	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	139	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTAAAATGCAGCTATAGACAA	0.259																																					Colon(146;1051 1799 9836 27344 47401)												0													43	50	47					5																	108171443		2184	4267	6451	SO:0001583	missense	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "SH2 domain containing"	3655	protein-coding gene	gene with protein product	"phosphoprotein NCP94", "protein phosphatase 1, regulatory subunit 74"	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.416G>T	5.37:g.108171443G>T	ENSP00000281092:p.Ser139Ile		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.S139I	ENST00000281092.4	37	c.416	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890945	0.52014	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.43294	0.95;0.95	5.77	3.98	0.46160	.	0.083588	0.85682	D	0.000000	T	0.32556	0.0833	L	0.39898	1.24	0.80722	D	1	P;P	0.45902	0.651;0.868	B;B	0.37198	0.153;0.243	T	0.12502	-1.0545	10	0.66056	D	0.02	-3.853	12.6658	0.56842	0.1356:0.0:0.8644:0.0	.	139;139	Q6PEJ9;P16591	.;FER_HUMAN	I	139	ENSP00000281092:S139I;ENSP00000442627:S139I	ENSP00000281092:S139I	S	+	2	0	FER	108199342	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.279000	0.43435	0.769000	0.33313	-0.237000	0.12165	AGC	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr	ENSG00000151422		0.259	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1	-	0	43	0	G	NM_005246		108171443	1	tier1	-	no_errors	ENST00000281092	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	108171443	G	T	108171443	3	4	57	1	0	0	0	0	1	0	0	0	5835	971	34	3	426	3	FER	5	108171443	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	18099090	108171443	72743817	129	14127											
RAPGEF6	51735	genome.wustl.edu	37	chr5	130766704	130766704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatacgtgtcagacagaGaactggaggaggtccaactc	12	8	12	9	1	2	2	2	0	0	2	4	5	3	4	1	3	3	1	1	3	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:130766704G>T	ENST00000509018.1	-	26	4518	c.4313C>A	c.(4312-4314)tCt>tAt	p.S1438Y	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1451Y|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1446Y|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1446Y|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1488Y	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1438	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTCAGACAGAGAACTGGAGGA	0.498																																					Melanoma(168;435 1955 13113 13877 23213)												0													135	137	136					5																	130766704		2203	4300	6503	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"PDZ domain containing guanine nucleotide exchange factor (GEF) 2"	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4313C>A	5.37:g.130766704G>T	ENSP00000421684:p.Ser1438Tyr		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1438Y	ENST00000509018.1	37	c.4313	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046657	0.75846	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.29142	1.69;1.58;1.58;1.69;1.78	5.0	5.0	0.66597	.	0.121611	0.56097	D	0.000022	T	0.55065	0.1897	M	0.65975	2.015	0.80722	D	1	D;B;B;D;B	0.76494	0.999;0.004;0.004;0.997;0.023	D;B;B;D;B	0.71870	0.962;0.009;0.009;0.975;0.028	T	0.57382	-0.7821	10	0.59425	D	0.04	.	18.6557	0.91453	0.0:0.0:1.0:0.0	.	1446;1446;1488;1451;1438	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	Y	1438;1451;1446;1446;1451;1488	ENSP00000421684:S1438Y;ENSP00000309298:S1451Y;ENSP00000426081:S1446Y;ENSP00000296859:S1446Y;ENSP00000426948:S1488Y	ENSP00000426948:S1488Y	S	-	2	0	RAPGEF6;FNIP1	130794603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.873000	0.75541	2.480000	0.83734	0.655000	0.94253	TCT	RAPGEF6	-	NULL	ENSG00000158987		0.498	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1		0	48	0	G	NM_016340		130766704	-1			no_errors	ENST00000509018	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	130766704	G	T	130766704	3	4	57	1	0	0	0	0	1	0	0	0	13093	942	33	3	504	3	RAPGEF6	5	130766704	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	22595261	130766704	50148556	130	14128											
NME5	8382	genome.wustl.edu	37	chr5	137474351	137474351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaagttacctgaacaatgGtgaatccggatctaagaata	16	9	9	7	1	1	4	0	2	1	2	2	5	2	5	2	2	2	1	2	2	8	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:137474351G>T	ENST00000265191.2	-	2	168	c.119C>A	c.(118-120)aCc>aAc	p.T40N		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	40					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTGAACAATGGTGAATCCGGA	0.363																																																	0													118	108	111					5																	137474351		2203	4300	6503	SO:0001583	missense	0			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"radial spoke 23 homolog (Chlamydomonas)"	603575	"non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.119C>A	5.37:g.137474351G>T	ENSP00000265191:p.Thr40Asn		B2R5G7	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase	p.T40N	ENST00000265191.2	37	c.119	CCDS4197.1	5	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910171	0.33721	.	.	ENSG00000112981	ENST00000265191	T	0.55052	0.54	5.45	5.45	0.79879	.	0.315156	0.37530	N	0.002054	T	0.48677	0.1513	L	0.58302	1.8	0.32229	N	0.574175	B	0.32365	0.367	B	0.37550	0.253	T	0.57717	-0.7763	10	0.30078	T	0.28	.	8.1153	0.30940	0.0742:0.0:0.6513:0.2744	.	40	P56597	NDK5_HUMAN	N	40	ENSP00000265191:T40N	ENSP00000265191:T40N	T	-	2	0	NME5	137502250	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.603000	0.36794	2.569000	0.86673	0.561000	0.74099	ACC	NME5	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5	ENSG00000112981		0.363	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME5	HGNC	protein_coding	OTTHUMT00000251286.1		0	56	0	G	NM_003551		137474351	-1			no_errors	ENST00000265191	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	137474351	G	T	137474351	3	4	57	1	0	0	0	0	1	0	0	0	10533	1261	44	3	539	3	NME5	5	137474351	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6707647	137474351	43440909	131	14129											
KDM3B	51780	genome.wustl.edu	37	chr5	137708469	137708469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggtctcttgtatgggcgcCccgtgaggacccagtccttc	5	10	13	13	2	1	1	0	1	1	0	4	2	2	2	4	3	0	1	4	3	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:137708469C>A	ENST00000314358.5	+	2	499	c.299C>A	c.(298-300)cCc>cAc	p.P100H		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	100					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTATGGGCGCCCCGTGAGGAC	0.522																																																	0													80	75	77					5																	137708469		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.299C>A	5.37:g.137708469C>A	ENSP00000326563:p.Pro100His		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P100H	ENST00000314358.5	37	c.299	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783057	0.70222	.	.	ENSG00000120733	ENST00000314358	T	0.61158	0.13	5.11	4.24	0.50183	.	0.222450	0.46442	D	0.000290	T	0.65790	0.2725	L	0.51422	1.61	0.80722	D	1	D	0.71674	0.998	P	0.58520	0.84	T	0.68985	-0.5265	10	0.62326	D	0.03	-15.8827	13.6435	0.62267	0.0:0.9256:0.0:0.0744	.	100	Q7LBC6	KDM3B_HUMAN	H	100	ENSP00000326563:P100H	ENSP00000326563:P100H	P	+	2	0	KDM3B	137736368	1.000000	0.71417	0.971000	0.41717	0.856000	0.48823	5.480000	0.66820	1.386000	0.46466	0.563000	0.77884	CCC	KDM3B	-	NULL	ENSG00000120733		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	38	0	C	NM_016604		137708469	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.995	A	A	137708469	C	A	137708469	3	1	57	1	0	0	0	0	1	0	0	0	8154	623	22	3	305	3	KDM3B	5	137708469	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	234118	137708469	43206791	132	14130											
ANKHD1	54882	genome.wustl.edu	37	chr5	139918669	139918669	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgcactgatgcccagcagGtaaaatgggcttaatgctct	12	10	10	9	0	1	1	0	1	1	0	1	1	1	1	1	2	4	5	1	2	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:139918669G>T	ENST00000360839.2	+	33	7723		c.e33+1		ANKHD1_ENST00000297183.6_Splice_Site|ANKHD1_ENST00000544120.1_Splice_Site|ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1							cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCAGCAGGTAAAATGGGC	0.363																																																	0													66	65	65					5																	139918669		2203	4300	6503	SO:0001630	splice_region_variant	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7569+1G>T	5.37:g.139918669G>T			A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Splice_Site	SNP	-	e33+1	ENST00000360839.2	37	c.7569+1	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.73|18.73	3.687282|3.687282	0.68157|0.68157	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000431508;ENST00000433049;ENST00000435794;ENST00000432301;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000421706	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76976	.|0.4063	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74210	.|-0.3739	.|4	.|.	.|.	.|.	.|.	20.2191|20.2191	0.98319|0.98319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|181	.|.	.|.	.|R	+|+	.|3	.|2	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139898853|139898853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.634000|6.634000	0.74290|0.74290	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	.|AGG	ANKHD1	-	-	ENSG00000131503		0.363	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0	71	0	G	NM_017747	Intron	139918669	1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	splice_site	7.27	51	4	SNP	1.000	T	T	139918669	G	T	139918669	5	4	57	1	0	0	0	0	0	0	1	0	628	1275	44	3	7806	3	ANKHD1	5	139918669	Splice_Site	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2210200	139918669	40996591	133	14131											
PCDHA2	56146	genome.wustl.edu	37	chr5	140176802	140176802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggagctggtcttactcGcagcagaggcggcagagggt	7	7	19	8	2	1	2	0	0	1	2	2	3	1	3	0	6	3	4	0	6	1	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:140176802G>A	ENST00000526136.1	+	1	2253	c.2253G>A	c.(2251-2253)tcG>tcA	p.S751S	PCDHA2_ENST00000378132.1_Silent_p.S751S|PCDHA2_ENST00000520672.2_Silent_p.S751S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	751	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGC	0.672																																																	0													43	47	46					5																	140176802		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2253G>A	5.37:g.140176802G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S751	ENST00000526136.1	37	c.2253	CCDS54914.1	5																																																																																			PCDHA2	-	NULL	ENSG00000204969		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0	76	0	G	NM_018905		140176802	1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	60.00	10	15	SNP	0.588	A	A	140176802	G	A	140176802	2	1	57	1	0	0	0	0	0	0	0	1	11563	1074	38	1		1	PCDHA2	5	140176802	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	258133	140176802	40738458	134	14132											
PCDHGB1	56104	genome.wustl.edu	37	chr5	140730999	140730999	+	Frame_Shift_Del	DEL	A	A	-																															agaagttcctttcaaattagAatccacctcgaagaattatt																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:140730999delA	ENST00000523390.1	+	1	1172	c.1172delA	c.(1171-1173)gaafs	p.E391fs	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAATTAGAATCCACCTCG	0.463																																																	0													57	58	57					5																	140730999		1920	4135	6055	SO:0001589	frameshift_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1172delA	5.37:g.140730999delA	ENSP00000429273:p.Glu391fs		Q3SY75|Q9Y5C8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E391fs	ENST00000523390.1	37	c.1172	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254221		0.463	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1		0	22	0	A	NM_018922		140730999	1	tier1		no_errors	ENST00000523390	ensembl	human	known	74_37	frame_shift_del	66.67	7	14	DEL	0.018	-	-	140730999	A	-	140730999	7	5	57	1	0	1	0	1	0	0	0	0	11601	246	9	0	1174	0	PCDHGB1	5	140730999	Frame_Shift_Del	DEL	A	TCGA-L5-A4OH-01A-11D-A27G-09	554197	140730999	40184261	135	14133											
HMMR	3161	genome.wustl.edu	37	chr5	162917504	162917504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacactttgatccttcaaagGcttttcatcatgaaagtaaa	15	13	5	8	0	3	2	3	2	0	0	4	2	4	2	1	1	1	2	1	1	5	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:162917504G>T	ENST00000358715.3	+	17	2104	c.2068G>T	c.(2068-2070)Gct>Tct	p.A690S	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Missense_Mutation_p.A675S|HMMR_ENST00000432118.2_Missense_Mutation_p.A604S|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Missense_Mutation_p.A691S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	690					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TCCTTCAAAGGCTTTTCATCA	0.333																																																	0													74	80	78					5																	162917504		2201	4299	6500	SO:0001583	missense	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.2068G>T	5.37:g.162917504G>T	ENSP00000351554:p.Ala690Ser		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.A691S	ENST00000358715.3	37	c.2071	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426511	0.83667	.	.	ENSG00000072571	ENST00000416990;ENST00000353866;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	6.07	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	M	0.74258	2.255	0.42336	D	0.992315	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.999;0.999	T	0.08932	-1.0698	10	0.87932	D	0	-10.1937	16.948	0.86235	0.0:0.0:0.8712:0.1288	.	604;691;675;690	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	S	576;675;691;667;604;690	ENSP00000400527:A576S;ENSP00000185942:A675S;ENSP00000377492:A691S;ENSP00000402673:A604S;ENSP00000351554:A690S	ENSP00000185942:A675S	A	+	1	0	HMMR	162850082	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.016000	0.64041	1.578000	0.49821	0.650000	0.86243	GCT	HMMR	-	NULL	ENSG00000072571		0.333	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	-	0	38	0	G	NM_012484		162917504	1	tier1	-	no_errors	ENST00000393915	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	162917504	G	T	162917504	3	4	57	1	0	0	0	0	1	0	0	0	7269	1203	42	3	2137	3	HMMR	5	162917504	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	22186505	162917504	17997756	136	14134											
STK10	6793	genome.wustl.edu	37	chr5	171491816	171491816	+	Splice_Site	DEL	C	C	-																															cttctccacctcgttcttcaCctgcagcagagacagcagag																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr5:171491816delC	ENST00000176763.5	-	13	2333	c.1990delG	c.(1990-1992)gtg>tg	p.V664fs		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	664					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCGTTCTTCACCTGCAGCAGA	0.542																																																	0													124	109	114					5																	171491816		2203	4300	6503	SO:0001630	splice_region_variant	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1990-1G>-	5.37:g.171491816delC			A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Frame_Shift_Del	DEL	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V664fs	ENST00000176763.5	37	c.1990	CCDS34290.1	5																																																																																			STK10	-	pfam_PKK	ENSG00000072786		0.542	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2		0	18	0	C	NM_005990	Frame_Shift_Del	171491816	-1	tier1		no_errors	ENST00000176763	ensembl	human	known	74_37	frame_shift_del	28.57	5	2	DEL	1.000	-	-	171491816	C	-	171491816	8	5	57	1	0	1	0	1	0	0	1	0	15333	521	18	0	944	0	STK10	5	171491816	Splice_Site	DEL	C	TCGA-L5-A4OH-01A-11D-A27G-09	8574312	171491816	9423444	137	14135											
RREB1	6239	genome.wustl.edu	37	chr6	7230981	7230981	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctccccatgtctcGatcaagttggagcccgccag	7	8	8	18	2	2	0	1	0	1	0	5	2	4	1	7	1	1	1	7	1	1	1	rs139120793	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:7230981G>T	ENST00000349384.6	+	10	2963	c.2649G>T	c.(2647-2649)tcG>tcT	p.S883S	RREB1_ENST00000379933.3_Silent_p.S883S|RREB1_ENST00000334984.6_Silent_p.S883S|RREB1_ENST00000379938.2_Silent_p.S883S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	883					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCATGTCTCGATCAAGTTGG	0.612																																																	0													41	41	41					6																	7230981		2203	4300	6503	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2649G>T	6.37:g.7230981G>T			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S883	ENST00000349384.6	37	c.2649	CCDS34336.1	6																																																																																			RREB1	-	NULL	ENSG00000124782		0.612	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	-	0	46	0	G			7230981	1	tier1	-	no_errors	ENST00000379938	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.001	T	T	7230981	G	T	7230981	2	4	57	1	0	0	0	0	0	0	0	1	13724	1045	37	2		2	RREB1	6	7230981	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		7230981	163884086	138	14136											
BTN3A1	11119	genome.wustl.edu	37	chr6	26408018	26408018	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagcaacaacaagggaGagaacatcccgactgtggaa	16	4	13	8	1	0	1	0	0	0	1	1	6	1	4	1	3	4	1	1	3	5	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:26408018G>T	ENST00000289361.6	+	4	921	c.553G>T	c.(553-555)Gag>Tag	p.E185*	BTN3A1_ENST00000476549.2_Nonsense_Mutation_p.E185*|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Nonsense_Mutation_p.E185*	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	185	Ig-like V-type 2.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CAACAAGGGAGAGAACATCCC	0.557																																																	0													171	147	155					6																	26408018		2203	4300	6503	SO:0001587	stop_gained	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.553G>T	6.37:g.26408018G>T	ENSP00000289361:p.Glu185*		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.E185*	ENST00000289361.6	37	c.553	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	24.4	4.531800	0.85706	.	.	ENSG00000026950	ENST00000476549;ENST00000289361;ENST00000425234	.	.	.	2.0	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.1942	0.20540	0.0:0.3206:0.6794:0.0	.	.	.	.	X	185	.	ENSP00000289361:E185X	E	+	1	0	BTN3A1	26515997	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	0.122000	0.15687	0.365000	0.24400	0.511000	0.50034	GAG	BTN3A1	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000026950		0.557	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0	89	0	G			26408018	1	tier1	-	no_errors	ENST00000289361	ensembl	human	known	74_37	nonsense	8.33	66	6	SNP	0.001	T	T	26408018	G	T	26408018	4	4	57	1	0	0	0	0	0	1	0	0	1566	943	33	3	563	3	BTN3A1	6	26408018	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	19177037	26408018	144707049	139	14137											
MUC21	394263	genome.wustl.edu	37	chr6	30954063	30954063	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacactggatccagtgtGatctccagtggagccagcac	10	7	11	13	0	1	1	0	1	1	0	3	3	2	3	4	2	3	1	4	2	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:30954063G>T	ENST00000376296.3	+	2	352	c.111G>T	c.(109-111)gtG>gtT	p.V37V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	37	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATCCAGTGTGATCTCCAGTG	0.488																																																	0													99	96	97					6																	30954063		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.111G>T	6.37:g.30954063G>T			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NULL	p.V37	ENST00000376296.3	37	c.111	CCDS34388.1	6																																																																																			MUC21	-	NULL	ENSG00000204544		0.488	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	-	0	90	0	G	NM_001010909		30954063	1	tier1	-	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	T	T	30954063	G	T	30954063	2	4	57	1	0	0	0	0	0	0	0	1	10015	1277	45	3		3	MUC21	6	30954063	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4546045	30954063	140161004	140	14138											
BAT1	7919	genome.wustl.edu	37	chr6	31498628	31498628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcctgcacatcattgaGgatcttggcatcattctcat	9	13	8	11	1	4	1	3	1	2	0	6	3	5	2	1	2	1	2	1	2	0	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:31498628G>T	ENST00000396172.1	-	10	1828	c.1198C>A	c.(1198-1200)Ctc>Atc	p.L400I	DDX39B_ENST00000462421.1_5'UTR|DDX39B_ENST00000376177.2_Silent_p.S407S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Missense_Mutation_p.L415I|DDX39B_ENST00000458640.1_Missense_Mutation_p.L400I|DDX39B_ENST00000415382.2_Missense_Mutation_p.L322I	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	400	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACATCATTGAGGATCTTGGCA	0.498																																																	0													87	86	86					6																	31498628		1511	2709	4220	SO:0001583	missense	0			Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"DEAD-boxes"	13917	protein-coding gene	gene with protein product	"U2AF65-associated protein 56"	142560	"HLA-B associated transcript 1"	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1198C>A	6.37:g.31498628G>T	ENSP00000379475:p.Leu400Ile		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L415I	ENST00000396172.1	37	c.1243	CCDS4697.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158070	0.78114	.	.	ENSG00000198563	ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382	T;T;T;T	0.52754	1.3;1.3;1.28;0.65	4.53	4.53	0.55603	Helicase, C-terminal (1);	0.101427	0.39146	N	0.001448	T	0.56062	0.1960	L	0.60455	1.87	0.80722	D	1	P;D;P;D	0.57571	0.78;0.98;0.513;0.98	P;D;D;D	0.67725	0.692;0.921;0.953;0.921	T	0.60835	-0.7184	10	0.87932	D	0	-12.7834	14.8312	0.70149	0.0:0.0:1.0:0.0	.	322;400;415;299	B4DP52;Q13838;F8VQ10;B0V2L1	.;DX39B_HUMAN;.;.	I	400;400;415;322	ENSP00000416269:L400I;ENSP00000379475:L400I;ENSP00000412582:L415I;ENSP00000392669:L322I	ENSP00000379475:L400I	L	-	1	0	DDX39B	31606607	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.886000	0.69743	2.362000	0.80069	0.563000	0.77884	CTC	DDX39B	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000198563		0.498	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39B	HGNC	protein_coding	OTTHUMT00000259083.1		0	50	0	G	NM_004640		31498628	-1			no_errors	ENST00000417556	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	31498628	G	T	31498628	3	4	57	1	0	0	0	0	1	0	0	0	1319	1000	35	3	96	3	BAT1	6	31498628	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	544565	31498628	139616439	141	14139											
MAPK14	1432	genome.wustl.edu	37	chr6	36020505	36020505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacaaaaacggggttacGtgtggcagtgaagaagctct	13	8	13	7	2	1	3	0	2	1	1	1	3	1	3	0	3	3	3	0	3	5	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:36020505G>T	ENST00000229794.4	+	2	534	c.146G>T	c.(145-147)cGt>cTt	p.R49L	MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Missense_Mutation_p.R49L|MAPK14_ENST00000229795.3_Missense_Mutation_p.R49L	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ACGGGGTTACGTGTGGCAGTG	0.373																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)												0													121	119	119					6																	36020505		2203	4300	6503	SO:0001583	missense	0			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"Mitogen-activated protein kinase cascade / Kinases"	6876	protein-coding gene	gene with protein product	"p38 MAP kinase"	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.146G>T	6.37:g.36020505G>T	ENSP00000229794:p.Arg49Leu		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38	p.R49L	ENST00000229794.4	37	c.146	CCDS4816.1	6	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929010	0.52759	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000310795	T;T;T	0.64618	-0.11;-0.11;-0.11	5.01	4.15	0.48705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064566	0.64402	D	0.000013	T	0.21841	0.0526	N	0.11201	0.11	0.80722	D	1	B;P;B;B;B	0.45827	0.041;0.867;0.391;0.003;0.394	B;B;B;B;B	0.33690	0.034;0.135;0.168;0.001;0.03	T	0.26395	-1.0104	10	0.87932	D	0	-8.2659	9.5692	0.39418	0.1611:0.0:0.8389:0.0	.	49;49;49;49;49	B5TY32;Q16539-4;Q16539;Q16539-2;Q16539-3	.;.;MK14_HUMAN;.;.	L	49	ENSP00000229795:R49L;ENSP00000229794:R49L;ENSP00000308669:R49L	ENSP00000229794:R49L	R	+	2	0	MAPK14	36128483	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	5.178000	0.65037	1.333000	0.45449	-0.145000	0.13849	CGT	MAPK14	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112062		0.373	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK14	HGNC	protein_coding	OTTHUMT00000357450.1	-	0	74	0	G	NM_001315		36020505	1	tier1	-	no_errors	ENST00000229794	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	36020505	G	T	36020505	3	4	57	1	0	0	0	0	1	0	0	0	9314	1145	40	2	152	2	MAPK14	6	36020505	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4521877	36020505	135094562	142	14140											
CPNE5	57699	genome.wustl.edu	37	chr6	36711498	36711498	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcagccagcttcccccGggaggagatccgcacgtcgt	6	7	13	15	5	1	1	1	0	0	1	4	3	3	2	4	2	2	3	4	2	0	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:36711498G>T	ENST00000244751.2	-	20	2155	c.1531C>A	c.(1531-1533)Cgg>Agg	p.R511R	CPNE5_ENST00000393189.2_Silent_p.R219R|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	511	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCTTCCCCCGGGAGGAGATC	0.647																																																	0													97	93	94					6																	36711498		2203	4300	6503	SO:0001819	synonymous_variant	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1531C>A	6.37:g.36711498G>T			Q7Z6C8	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R511	ENST00000244751.2	37	c.1531	CCDS4825.1	6																																																																																			CPNE5	-	smart_VWF_A,pfscan_VWF_A	ENSG00000124772		0.647	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1	-	0	77	0	G	NM_020939		36711498	-1	tier1	-	no_errors	ENST00000244751	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	36711498	G	T	36711498	2	4	57	1	0	0	0	0	0	0	0	1	3822	1115	39	2		2	CPNE5	6	36711498	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	690993	36711498	134403569	143	14141											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62604590	62604590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaggtgccctgtatcctgGcactgttggtgccccccggg	4	9	15	13	1	0	0	0	0	0	0	1	1	1	1	5	5	2	3	5	5	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:62604590G>T	ENST00000281156.4	-	6	1038	c.760C>A	c.(760-762)Cca>Aca	p.P254T		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	254	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTGTATCCTGGCACTGTTGGT	0.517																																																	0													70	72	71					6																	62604590		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.760C>A	6.37:g.62604590G>T	ENSP00000281156:p.Pro254Thr		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.P254T	ENST00000281156.4	37	c.760	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655061	0.29425	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.41400	1.0	5.82	5.82	0.92795	.	0.108992	0.64402	D	0.000006	T	0.20210	0.0486	L	0.29908	0.895	0.52501	D	0.999959	B	0.09022	0.002	B	0.08055	0.003	T	0.08249	-1.0731	10	0.16896	T	0.51	-2.8519	20.0856	0.97800	0.0:0.0:1.0:0.0	.	254	Q5VWX1	KHDR2_HUMAN	T	254	ENSP00000281156:P254T	ENSP00000281156:P254T	P	-	1	0	KHDRBS2	62662549	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	7.731000	0.84895	2.734000	0.93682	0.655000	0.94253	CCA	KHDRBS2	-	NULL	ENSG00000112232		0.517	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2	-	0	48	0	G	NM_152688		62604590	-1	tier1	-	no_errors	ENST00000281156	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.998	T	T	62604590	G	T	62604590	3	4	57	1	0	0	0	0	1	0	0	0	8174	1203	42	3	305	3	KHDRBS2	6	62604590	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	25893092	62604590	108510477	144	14142											
KHDRBS2	202559	genome.wustl.edu	37	chr6	62604610	62604610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactgttggtgccccccggGctcgaggggtagggacacct	5	7	16	13	2	0	0	0	0	0	0	1	2	0	1	4	5	1	4	4	5	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:62604610G>T	ENST00000281156.4	-	6	1018	c.740C>A	c.(739-741)gCc>gAc	p.A247D		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	247	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGCCCCCCGGGCTCGAGGGGT	0.562																																																	0													58	60	59					6																	62604610		2203	4300	6503	SO:0001583	missense	0			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"Sam68-like mammalian protein 1"	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.740C>A	6.37:g.62604610G>T	ENSP00000281156:p.Ala247Asp		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.A247D	ENST00000281156.4	37	c.740	CCDS4963.1	6	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004215	0.93287	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.51325	0.71	5.52	5.52	0.82312	.	0.165430	0.53938	D	0.000046	T	0.54046	0.1834	M	0.61703	1.905	0.47994	D	0.999563	P	0.49696	0.927	P	0.53062	0.717	T	0.56492	-0.7970	10	0.66056	D	0.02	-0.503	19.7889	0.96450	0.0:0.0:1.0:0.0	.	247	Q5VWX1	KHDR2_HUMAN	D	247	ENSP00000281156:A247D	ENSP00000281156:A247D	A	-	2	0	KHDRBS2	62662569	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.866000	0.69590	2.734000	0.93682	0.655000	0.94253	GCC	KHDRBS2	-	NULL	ENSG00000112232		0.562	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	HGNC	protein_coding	OTTHUMT00000041066.2		0	42	0	G	NM_152688		62604610	-1			no_errors	ENST00000281156	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	62604610	G	T	62604610	3	4	57	1	0	0	0	0	1	0	0	0	8174	1203	42	3	325	3	KHDRBS2	6	62604610	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	20	62604610	108510457	145	14143											
PHF3	23469	genome.wustl.edu	37	chr6	64404571	64404571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacaaccagttttacctcGgagatcctcagaagaaaaaa	16	7	9	9	1	1	3	1	0	0	3	3	5	2	4	3	2	2	1	3	2	6	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:64404571G>T	ENST00000262043.3	+	6	2937	c.2597G>T	c.(2596-2598)cGg>cTg	p.R866L	PHF3_ENST00000393387.1_Missense_Mutation_p.R866L			Q92576	PHF3_HUMAN	PHD finger protein 3	866					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTTTTACCTCGGAGATCCTCA	0.398																																					GBM(135;136 1820 29512 34071 46235)												0													91	102	98					6																	64404571		2201	4300	6501	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2597G>T	6.37:g.64404571G>T	ENSP00000262043:p.Arg866Leu		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.R866L	ENST00000262043.3	37	c.2597	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226538	0.58668	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.48836	1.98;1.68;0.8;2.09;0.98;2.09	5.33	4.46	0.54185	.	0.000000	0.33753	N	0.004590	T	0.34978	0.0916	M	0.63428	1.95	0.42214	D	0.991822	P	0.43024	0.798	B	0.42738	0.396	T	0.32561	-0.9902	10	0.52906	T	0.07	-10.3898	11.8196	0.52230	0.0818:0.0:0.9182:0.0	.	866	Q92576	PHF3_HUMAN	L	680;778;135;866;819;866	ENSP00000424694:R680L;ENSP00000425227:R778L;ENSP00000425338:R135L;ENSP00000262043:R866L;ENSP00000424078:R819L;ENSP00000377048:R866L	ENSP00000262043:R866L	R	+	2	0	PHF3	64462530	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.979000	0.70508	1.385000	0.46445	0.555000	0.69702	CGG	PHF3	-	NULL	ENSG00000118482		0.398	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2		0	30	0	G			64404571	1			no_errors	ENST00000262043	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	64404571	G	T	64404571	3	4	57	1	0	0	0	0	1	0	0	0	11875	1116	39	2	2615	2	PHF3	6	64404571	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1799961	64404571	106710496	146	14144											
CD109	135228	genome.wustl.edu	37	chr6	74497118	74497118	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagaaattcctatcacAgtcacagctctttcacccac	11	10	6	14	0	4	1	3	0	1	1	5	2	5	1	2	1	1	1	2	1	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:74497118A>G	ENST00000287097.5	+	21	2611	c.2499A>G	c.(2497-2499)acA>acG	p.T833T	CD109_ENST00000422508.2_Silent_p.T756T|CD109_ENST00000437994.2_Silent_p.T833T			Q6YHK3	CD109_HUMAN	CD109 molecule	833					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCCTATCACAGTCACAGCTC	0.453																																																	0													114	110	112					6																	74497118		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2499A>G	6.37:g.74497118A>G			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.T833	ENST00000287097.5	37	c.2499	CCDS4982.1	6																																																																																			CD109	-	NULL	ENSG00000156535		0.453	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0	46	0	A	NM_133493		74497118	1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.911	G	G	74497118	A	G	74497118	2	3	57	1	0	0	0	0	0	0	0	1	2970	175	7	4		4	CD109	6	74497118	Silent	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	10092547	74497118	96617949	147	14145											
MDN1	23195	genome.wustl.edu	37	chr6	90398491	90398491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagagggtacaggccaaaAgttggctgcccaagagtcgg	11	5	17	8	1	0	2	0	0	0	2	1	3	0	2	2	5	2	3	2	5	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:90398491A>G	ENST00000369393.3	-	66	11175	c.11060T>C	c.(11059-11061)cTt>cCt	p.L3687P	MDN1_ENST00000428876.1_Missense_Mutation_p.L3687P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3687					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAGGCCAAAAGTTGGCTGCC	0.463																																																	0													61	53	55					6																	90398491		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11060T>C	6.37:g.90398491A>G	ENSP00000358400:p.Leu3687Pro		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.L3687P	ENST00000369393.3	37	c.11060	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577255	0.45902	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04406	3.63;3.63	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.15219	0.0367	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00581	-1.1660	10	0.72032	D	0.01	.	15.6605	0.77182	1.0:0.0:0.0:0.0	.	3687	Q9NU22	MDN1_HUMAN	P	3687	ENSP00000358400:L3687P;ENSP00000413970:L3687P	ENSP00000358400:L3687P	L	-	2	0	MDN1	90455212	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	8.917000	0.92751	2.098000	0.63641	0.254000	0.18369	CTT	MDN1	-	pirsf_Midasin	ENSG00000112159		0.463	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	42	0	A			90398491	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	G	G	90398491	A	G	90398491	3	3	57	1	0	0	0	0	1	0	0	0	9453	72	3	4	5878	4	MDN1	6	90398491	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	15901373	90398491	80716576	148	14146											
GRIK2	2898	genome.wustl.edu	37	chr6	101847171	101847171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatgaagattattttcccGattctaagtaatccagtctt	12	15	5	9	1	2	2	0	1	2	1	4	3	4	2	3	0	0	1	3	0	4	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:101847171G>A	ENST00000421544.1	+	1	508	c.18G>A	c.(16-18)ccG>ccA	p.P6P	GRIK2_ENST00000358361.3_Silent_p.P6P|GRIK2_ENST00000369138.1_Silent_p.P6P|GRIK2_ENST00000318991.6_Silent_p.P6P|GRIK2_ENST00000369137.3_Silent_p.P6P|GRIK2_ENST00000413795.1_Silent_p.P6P	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	6					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TTATTTTCCCGATTCTAAGTA	0.478																																																	0													151	136	141					6																	101847171		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.18G>A	6.37:g.101847171G>A			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P6	ENST00000421544.1	37	c.18	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.478	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0	27	0	G			101847171	1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.999	A	A	101847171	G	A	101847171	2	1	57	1	0	0	0	0	0	0	0	1	6801	1045	37	1		1	GRIK2	6	101847171	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11448680	101847171	69267896	149	14147											
SEC63	11231	genome.wustl.edu	37	chr6	108214859	108214859	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttgttagtttcaccctGctgtgaatcataacacgtca	9	15	7	10	1	4	1	3	1	1	0	4	1	4	1	1	0	2	4	1	0	3	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:108214859G>T	ENST00000369002.4	-	16	1680	c.1501C>A	c.(1501-1503)Cag>Aag	p.Q501K		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	501	SEC63 1.				liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		GTTTCACCCTGCTGTGAATCA	0.348																																																	0													140	143	142					6																	108214859		2203	4300	6503	SO:0001630	splice_region_variant	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"Heat shock proteins / DNAJ (HSP40)"	21082	protein-coding gene	gene with protein product		608648	"SEC63-like (S. cerevisiae)"			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.1501-1C>A	6.37:g.108214859G>T			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain	p.Q501K	ENST00000369002.4	37	c.1501	CCDS5061.1	6	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400892	0.25291	.	.	ENSG00000025796	ENST00000369002;ENST00000437345;ENST00000423697	T	0.68765	-0.35	5.38	5.38	0.77491	Sec63 domain (2);	0.178956	0.50627	D	0.000117	T	0.46737	0.1408	L	0.40543	1.245	0.80722	D	1	B;B	0.28820	0.022;0.224	B;B	0.31495	0.013;0.131	T	0.47636	-0.9102	10	0.13853	T	0.58	-1.6873	19.497	0.95077	0.0:0.0:1.0:0.0	.	501;501	Q9UGP8;B3KQF0	SEC63_HUMAN;.	K	501;152;361	ENSP00000357998:Q501K	ENSP00000357998:Q501K	Q	-	1	0	SEC63	108321552	1.000000	0.71417	0.835000	0.33067	0.063000	0.16089	5.578000	0.67450	2.677000	0.91161	0.563000	0.77884	CAG	SEC63	-	superfamily_ARM-type_fold,smart_Sec63-dom	ENSG00000025796		0.348	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	-	0	84	0	G	NM_007214	Missense_Mutation	108214859	-1	tier1	-	no_errors	ENST00000369002	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	108214859	G	T	108214859	5	4	57	1	0	0	0	0	0	0	1	0	14050	1333	46	3	805	3	SEC63	6	108214859	Splice_Site	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6367688	108214859	62900208	150	14148											
SLC22A16	85413	genome.wustl.edu	37	chr6	110760034	110760034	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcacacgaaggtgtaggcGggaatttccactacacctgt	11	9	11	10	2	0	0	0	0	0	0	1	2	1	1	2	3	2	2	2	3	4	3	rs373105261		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:110760034G>T	ENST00000368919.3	-	5	1266	c.1200C>A	c.(1198-1200)ccC>ccA	p.P400P	SLC22A16_ENST00000330550.4_Silent_p.P366P|SLC22A16_ENST00000439654.1_Silent_p.P400P|RN7SL617P_ENST00000485298.2_RNA	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	400					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGGTGTAGGCGGGAATTTCCA	0.542																																																	0													121	92	102					6																	110760034		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1200C>A	6.37:g.110760034G>T			O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P400	ENST00000368919.3	37	c.1200	CCDS5084.1	6																																																																																			SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000004809		0.542	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	-	0	30	0	G	NM_033125		110760034	-1	tier1	-	no_errors	ENST00000368919	ensembl	human	known	74_37	silent	13.04	20	3	SNP	1.000	T	T	110760034	G	T	110760034	2	4	57	1	0	0	0	0	0	0	0	1	14492	1103	39	2		2	SLC22A16	6	110760034	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2545175	110760034	60355033	151	14149											
SLC22A16	85413	genome.wustl.edu	37	chr6	110777989	110777989	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaccttgagagctcccaGatctcaccattctgcaactg	10	10	6	15	0	2	2	1	1	2	2	4	3	3	2	3	0	4	2	3	0	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:110777989G>T	ENST00000368919.3	-	2	351	c.285C>A	c.(283-285)atC>atA	p.I95I	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Silent_p.I95I|SLC22A16_ENST00000330550.4_Silent_p.I61I|SLC22A16_ENST00000439654.1_Silent_p.I95I	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	95					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGAGCTCCCAGATCTCACCAT	0.468																																																	0													215	219	218					6																	110777989		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"Solute carriers"	20302	protein-coding gene	gene with protein product		608276	"solute carrier family 22 (organic cation transporter), member 16"			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.285C>A	6.37:g.110777989G>T			O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I95	ENST00000368919.3	37	c.285	CCDS5084.1	6																																																																																			SLC22A16	-	NULL	ENSG00000004809		0.468	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	-	0	108	0	G	NM_033125		110777989	-1	tier1	-	no_errors	ENST00000368919	ensembl	human	known	74_37	silent	6.33	74	5	SNP	0.325	T	T	110777989	G	T	110777989	2	4	57	1	0	0	0	0	0	0	0	1	14492	932	33	3		3	SLC22A16	6	110777989	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	17955	110777989	60337078	152	14150											
TRAF3IP2	10758	genome.wustl.edu	37	chr6	111913033	111913033	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactgtcctccagaactTgagtgcgcaggcaggtgacc	8	9	11	13	1	1	3	1	2	0	1	3	3	3	3	3	2	2	2	3	2	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:111913033T>G	ENST00000340026.6	-	3	878	c.284A>C	c.(283-285)cAa>cCa	p.Q95P	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.Q86P|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.Q86P			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	95	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CTCCAGAACTTGAGTGCGCAG	0.562																																																	0													68	70	69					6																	111913033		2203	4300	6503	SO:0001583	missense	0			AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"chromosome 6 open reading frame 5", "chromosome 6 open reading frame 2"	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.284A>C	6.37:g.111913033T>G	ENSP00000345984:p.Gln95Pro		B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	pfam_SEFIR	p.Q95P	ENST00000340026.6	37	c.284		6	.	.	.	.	.	.	.	.	.	.	T	11.14	1.550860	0.27739	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.31247	1.5;1.5;1.5	5.91	2.16	0.27623	.	0.346526	0.28146	N	0.016433	T	0.04137	0.0115	N	0.08118	0	0.21719	N	0.999573	B;B;B	0.23735	0.054;0.09;0.022	B;B;B	0.23018	0.019;0.043;0.019	T	0.31998	-0.9923	10	0.72032	D	0.01	-7.1998	1.2241	0.01929	0.136:0.1657:0.2811:0.4173	.	95;86;86	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	P	95;86;95;86	ENSP00000357750:Q86P;ENSP00000345984:Q95P;ENSP00000352889:Q86P	ENSP00000345984:Q95P	Q	-	2	0	TRAF3IP2	112019726	0.002000	0.14202	0.380000	0.26093	0.837000	0.47467	-0.250000	0.08830	0.135000	0.18707	0.454000	0.30748	CAA	TRAF3IP2	-	NULL	ENSG00000056972		0.562	TRAF3IP2-001	KNOWN	basic	protein_coding	TRAF3IP2	HGNC	protein_coding	OTTHUMT00000041841.2	-	0	50	0	T			111913033	-1	tier1	-	no_errors	ENST00000340026	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.024	G	G	111913033	T	G	111913033	3	3	57	1	0	0	0	0	1	0	0	0	16489	1812	63	4	1472	4	TRAF3IP2	6	111913033	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	1135044	111913033	59202034	153	14151											
GPRC6A	222545	genome.wustl.edu	37	chr6	117127866	117127866	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaggaatggaaagaGgatatattccctcttctaaa	17	10	9	5	0	2	3	0	1	2	2	3	6	3	6	1	3	0	0	1	3	8	5	rs139954647		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:117127866G>T	ENST00000310357.3	-	3	1023	c.1002C>A	c.(1000-1002)tcC>tcA	p.S334S	GPRC6A_ENST00000368549.3_Silent_p.S334S|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	334					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S334S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AATGGAAAGAGGATATATTCC	0.398																																																	1	Substitution - coding silent(1)	skin(1)											105	100	102					6																	117127866		2203	4300	6503	SO:0001819	synonymous_variant	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1002C>A	6.37:g.117127866G>T			Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.S334	ENST00000310357.3	37	c.1002	CCDS5112.1	6																																																																																			GPRC6A	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_vmron_rcpt_2	ENSG00000173612		0.398	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2		0	37	0	G			117127866	-1			no_errors	ENST00000310357	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.899	T	T	117127866	G	T	117127866	2	4	57	1	0	0	0	0	0	0	0	1	6755	987	35	3		3	GPRC6A	6	117127866	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5214833	117127866	53987201	154	14152											
FAM184A	79632	genome.wustl.edu	37	chr6	119301428	119301428	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttgcgtaagccgctgtcGttcttgcgtaaactgggctt	5	14	11	11	4	2	0	0	0	2	0	3	0	2	0	1	1	4	5	1	1	3	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:119301428G>A	ENST00000338891.7	-	10	2619	c.2176C>T	c.(2176-2178)Cga>Tga	p.R726*	FAM184A_ENST00000352896.5_Nonsense_Mutation_p.R606*|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Nonsense_Mutation_p.R726*|FAM184A_ENST00000368475.4_Nonsense_Mutation_p.R606*	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	726						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AGCCGCTGTCGTTCTTGCGTA	0.433																																																	0													112	107	108					6																	119301428		1903	4123	6026	SO:0001587	stop_gained	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2176C>T	6.37:g.119301428G>A	ENSP00000342604:p.Arg726*		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.R726*	ENST00000338891.7	37	c.2176	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	G	43	10.452410	0.99408	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	.	.	.	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.282	17.0043	0.86388	0.0:0.0:0.872:0.128	.	.	.	.	X	726;606;606;726	.	ENSP00000342604:R726X	R	-	1	2	FAM184A	119343127	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.786000	0.62425	2.941000	0.99782	0.655000	0.94253	CGA	FAM184A	-	NULL	ENSG00000111879		0.433	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	-	0	87	0	G	NM_024581		119301428	-1	tier1	-	no_errors	ENST00000338891	ensembl	human	known	74_37	nonsense	25.32	57	20	SNP	1.000	A	A	119301428	G	A	119301428	4	1	57	1	0	0	0	0	0	1	0	0	5530	1153	40	1	1282	1	FAM184A	6	119301428	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2173562	119301428	51813639	155	14153											
GJA1	2697	genome.wustl.edu	37	chr6	121768889	121768889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaacaattcttcttgccGcaattacaacaagcaagcaa	17	8	5	11	1	2	1	0	0	2	1	2	1	2	1	1	0	6	3	1	0	8	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:121768889G>A	ENST00000282561.3	+	2	1053	c.896G>A	c.(895-897)cGc>cAc	p.R299H		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	299					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTTCTTGCCGCAATTACAAC	0.502																																																	0													74	74	74					6																	121768889		2203	4300	6503	SO:0001583	missense	0			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"Ion channels / Gap junction proteins (connexins)"	4274	protein-coding gene	gene with protein product	"oculodentodigital dysplasia (syndactyly type III)", "connexin 43"	121014	"gap junction protein, alpha-like", "gap junction protein, alpha 1, 43kDa (connexin 43)"	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.896G>A	6.37:g.121768889G>A	ENSP00000282561:p.Arg299His		B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.R299H	ENST00000282561.3	37	c.896	CCDS5123.1	6	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681938	0.47991	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.82167	-1.58	5.08	5.08	0.68730	Gap junction alpha-1 protein (Cx43), C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.78432	0.4282	N	0.14661	0.345	0.58432	D	0.999999	D	0.64830	0.994	P	0.60415	0.874	T	0.80034	-0.1551	10	0.39692	T	0.17	.	18.6704	0.91508	0.0:0.0:1.0:0.0	.	299	P17302	CXA1_HUMAN	H	283;299	ENSP00000282561:R299H	ENSP00000282561:R299H	R	+	2	0	GJA1	121810588	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.335000	0.79234	2.638000	0.89438	0.585000	0.79938	CGC	GJA1	-	pfam_Connexin43_C,prints_Connexin43	ENSG00000152661		0.502	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	-	0	83	0	G	NM_000165		121768889	1	tier1	-	no_errors	ENST00000282561	ensembl	human	known	74_37	missense	41.86	50	36	SNP	1.000	A	A	121768889	G	A	121768889	3	1	57	1	0	0	0	0	1	0	0	0	6426	1087	38	1	898	1	GJA1	6	121768889	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2467461	121768889	49346178	156	14154											
SAMD3	154075	genome.wustl.edu	37	chr6	130476116	130476116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgttttcacgtattcttGctggaaccacttaatatgtt	8	19	6	8	1	3	0	1	0	2	0	3	1	3	1	1	1	2	4	1	1	4	9			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:130476116G>T	ENST00000368134.2	-	11	1485	c.877C>A	c.(877-879)Caa>Aaa	p.Q293K	SAMD3_ENST00000437477.2_Missense_Mutation_p.Q293K|SAMD3_ENST00000457563.2_Missense_Mutation_p.Q317K|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q293K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	293										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACGTATTCTTGCTGGAACCAC	0.363																																																	0													133	123	126					6																	130476116		2203	4300	6503	SO:0001583	missense	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"Sterile alpha motif (SAM) domain containing"	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.877C>A	6.37:g.130476116G>T	ENSP00000357116:p.Gln293Lys		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Q293K	ENST00000368134.2	37	c.877	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	G	7.264	0.605870	0.14002	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.41758	1.0;0.99;1.0;1.0	5.63	3.84	0.44239	.	0.275715	0.31949	N	0.006818	T	0.15478	0.0373	L	0.50333	1.59	0.80722	D	1	B	0.18310	0.027	B	0.11329	0.006	T	0.06991	-1.0796	10	0.28530	T	0.3	.	4.3598	0.11196	0.1394:0.1223:0.6126:0.1258	.	293	Q8N6K7	SAMD3_HUMAN	K	293;317;293;293	ENSP00000357116:Q293K;ENSP00000402092:Q317K;ENSP00000403565:Q293K;ENSP00000391163:Q293K	ENSP00000357116:Q293K	Q	-	1	0	SAMD3	130517809	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.072000	0.30678	0.823000	0.34589	0.563000	0.77884	CAA	SAMD3	-	NULL	ENSG00000164483		0.363	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3		0	75	0	G	NM_152552		130476116	-1			no_errors	ENST00000368134	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.999	T	T	130476116	G	T	130476116	3	4	57	1	0	0	0	0	1	0	0	0	13865	1328	46	3	701	3	SAMD3	6	130476116	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8707227	130476116	40638951	157	14155											
TAAR6	319100	genome.wustl.edu	37	chr6	132892314	132892314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attaattgatgcctttatggGctttataacccctgcctgta	9	16	7	9	0	0	1	0	1	0	0	0	1	0	1	4	1	3	2	4	1	5	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:132892314G>T	ENST00000275198.1	+	1	854	c.854G>T	c.(853-855)gGc>gTc	p.G285V		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	285					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCCTTTATGGGCTTTATAACC	0.373																																																	0													123	123	123					6																	132892314		2203	4300	6503	SO:0001583	missense	0			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"GPCR / Class A : Trace amine associated receptors"	20978	protein-coding gene	gene with protein product		608923	"trace amine receptor 4"	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.854G>T	6.37:g.132892314G>T	ENSP00000275198:p.Gly285Val		Q5VUQ4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.G285V	ENST00000275198.1	37	c.854	CCDS5155.1	6	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920670	0.52653	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.37058	1.22	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.206504	0.31589	N	0.007389	T	0.43853	0.1266	M	0.83312	2.635	0.21762	N	0.999559	P	0.48764	0.915	P	0.60682	0.878	T	0.49399	-0.8944	10	0.87932	D	0	-11.4584	6.1125	0.20108	0.2186:0.0:0.7814:0.0	.	285	Q96RI8	TAAR6_HUMAN	V	285;260	ENSP00000275198:G285V	ENSP00000275198:G285V	G	+	2	0	TAAR6	132934007	0.002000	0.14202	0.864000	0.33941	0.984000	0.73092	1.223000	0.32527	2.639000	0.89480	0.650000	0.86243	GGC	TAAR6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_TAAR_fam	ENSG00000146383		0.373	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR6	HGNC	protein_coding	OTTHUMT00000042255.1	-	0	72	0	G	NM_175067		132892314	1	tier1	-	no_errors	ENST00000275198	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.024	T	T	132892314	G	T	132892314	3	4	57	1	0	0	0	0	1	0	0	0	15539	1203	42	3	856	3	TAAR6	6	132892314	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2416198	132892314	38222753	158	14156											
SYNE1	23345	genome.wustl.edu	37	chr6	152542556	152542559	+	Splice_Site	DEL	CATA	CATA	-																															tgtgtaaagttaacatactcCatacctcatgttgacttctt																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	CATA	CATA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:152542556_152542559delCATA	ENST00000367255.5	-	118	22258		c.e118+1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAACATACTCCATACCTCATGTTG	0.314										HNSCC(10;0.0054)																																							0																																										SO:0001630	splice_region_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21656+1TATG>-	6.37:g.152542556_152542559delCATA			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	-	e116+2	ENST00000367255.5	37	c.21656+2_21656+1	CCDS5236.2	6																																																																																			SYNE1	-	-	ENSG00000131018		0.314	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	45	0	CATA	NM_182961	Intron	152542559	-1	tier1		no_errors	ENST00000265368	ensembl	human	known	74_37	splice_site_del	17.14	29	6	DEL	0.121:0.133:0.986:1.000	-	-	152542559	CATA	-	152542556	8	5	57	1	0	1	0	1	0	0	1	0	15492	609	21	0		0	SYNE1	6	152542556	Splice_Site	DEL	CATA	TCGA-L5-A4OH-01A-11D-A27G-09	19650242	152542556	18572511	159	14157											
ARID1B	57492	genome.wustl.edu	37	chr6	157528490	157528490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctttccaactgtgggacCcaactcggtcctgtcgcctc	5	11	8	17	2	0	0	0	0	0	0	6	1	3	1	5	2	2	0	5	2	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr6:157528490C>A	ENST00000350026.5	+	19	6177	c.6176C>A	c.(6175-6177)cCc>cAc	p.P2059H	ARID1B_ENST00000346085.5_Missense_Mutation_p.P2072H|ARID1B_ENST00000275248.4_Missense_Mutation_p.P2054H|ARID1B_ENST00000367148.1_Missense_Mutation_p.P2112H	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2059					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGTGGGACCCAACTCGGTC	0.527																																																	0													181	186	185					6																	157528490		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6176C>A	6.37:g.157528490C>A	ENSP00000055163:p.Pro2059His		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P2112H	ENST00000350026.5	37	c.6335	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880516	0.33255	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.26	5.26	0.73747	.	0.106927	0.64402	D	0.000004	T	0.61148	0.2324	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.988	T	0.65183	-0.6230	10	0.87932	D	0	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	2059;2072;2054	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	H	2072;2059;2112;2054;1581	ENSP00000344546:P2072H;ENSP00000055163:P2059H;ENSP00000356116:P2112H;ENSP00000275248:P2054H;ENSP00000412835:P1581H	ENSP00000275248:P2054H	P	+	2	0	ARID1B	157570182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.734000	0.62043	2.607000	0.88179	0.655000	0.94253	CCC	ARID1B	-	pfam_DUF3518	ENSG00000049618		0.527	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	48	0	C	NM_020732		157528490	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A	A	157528490	C	A	157528490	3	1	57	1	0	0	0	0	1	0	0	0	914	623	22	3	6293	3	ARID1B	6	157528490	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	4985934	157528490	13586577	160	14158											
PRKAR1B	5575	genome.wustl.edu	37	chr7	750980	750980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcaccttctccagcttctCgaagtgctcccggaggaact	8	10	8	15	2	3	0	1	0	2	0	6	3	4	2	3	2	3	2	3	2	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:750980C>T	ENST00000406797.1	-	2	337	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PRKAR1B_ENST00000360274.4_Missense_Mutation_p.E55K|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.E55K|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.E55K|PRKAR1B_ENST00000488474.1_5'UTR|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.E55K	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	55	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TCCAGCTTCTCGAAGTGCTCC	0.652																																																	0													61	63	62					7																	750980		2203	4300	6503	SO:0001583	missense	0			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.163G>A	7.37:g.750980C>T	ENSP00000385749:p.Glu55Lys		Q8N422	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.E55K	ENST00000406797.1	37	c.163	CCDS34579.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385162	0.82792	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000417852;ENST00000456696	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	3.44	2.53	0.30540	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	0.000000	0.64402	U	0.000003	T	0.79839	0.4515	M	0.82323	2.585	0.58432	D	0.999998	P	0.47106	0.89	P	0.46659	0.523	T	0.77373	-0.2612	10	0.31617	T	0.26	-26.7641	10.758	0.46247	0.1921:0.8079:0.0:0.0	.	55	P31321	KAP1_HUMAN	K	55	ENSP00000440449:E55K;ENSP00000444487:E55K;ENSP00000385749:E55K;ENSP00000385349:E55K;ENSP00000353415:E55K;ENSP00000402648:E55K;ENSP00000406670:E55K	ENSP00000353415:E55K	E	-	1	0	PRKAR1B	717506	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	6.668000	0.74457	0.630000	0.30394	0.556000	0.70494	GAG	PRKAR1B	-	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su	ENSG00000188191		0.652	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1	-	0	66	0	C			750980	-1	tier1	-	no_errors	ENST00000360274	ensembl	human	known	74_37	missense	30.00	56	24	SNP	1.000	T	T	750980	C	T	750980	3	4	57	1	0	0	0	0	1	0	0	0	12546	893	31	1	1022	1	PRKAR1B	7	750980	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09		750980	158387683	161	14159											
INTS1	26173	genome.wustl.edu	37	chr7	1518422	1518422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctgagctgtgcccgcaGgggcccgccctccacgccag	5	5	12	19	3	0	1	0	1	0	0	2	1	2	1	6	2	2	2	6	2	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:1518422G>T	ENST00000404767.3	-	32	4514	c.4429C>A	c.(4429-4431)Ctg>Atg	p.L1477M	INTS1_ENST00000389470.4_Missense_Mutation_p.L1676M	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1477					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTGCCCGCAGGGGCCCGCCC	0.701																																																	0													11	14	13					7																	1518422		2047	4140	6187	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4429C>A	7.37:g.1518422G>T	ENSP00000385722:p.Leu1477Met		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L1676M	ENST00000404767.3	37	c.5026	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803145	0.31869	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.60040	0.38;0.22	4.68	2.83	0.33086	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.34521	1.04	0.35110	D	0.766026	P	0.43578	0.811	B	0.39660	0.306	T	0.54153	-0.8336	10	0.52906	T	0.07	.	9.7054	0.40211	0.1696:0.0:0.8304:0.0	.	1477	Q8N201	INT1_HUMAN	M	1477;1676	ENSP00000385722:L1477M;ENSP00000374121:L1676M	ENSP00000374121:L1676M	L	-	1	2	INTS1	1484948	1.000000	0.71417	0.157000	0.22605	0.061000	0.15899	4.470000	0.60175	0.380000	0.24823	0.511000	0.50034	CTG	INTS1	-	NULL	ENSG00000164880		0.701	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1		0	30	0	G			1518422	-1			no_errors	ENST00000389470	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.750	T	T	1518422	G	T	1518422	3	4	57	1	0	0	0	0	1	0	0	0	7802	991	35	3	2211	3	INTS1	7	1518422	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	767442	1518422	157620241	162	14160											
DNAH11	8701	genome.wustl.edu	37	chr7	21655910	21655910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcagaaggtttgccaaGgcgagttccataactgtcta	12	10	10	9	1	2	1	1	0	1	1	3	3	3	1	2	2	3	2	2	2	5	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:21655910G>T	ENST00000328843.6	+	22	4126	c.4095G>T	c.(4093-4095)aaG>aaT	p.K1365N	DNAH11_ENST00000409508.3_Splice_Site_p.K1365N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1365	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTTGCCAAGGCGAGTTCCA	0.418									Kartagener syndrome																																								0													139	135	136					7																	21655910		1893	4132	6025	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000328843.6:c.4095G>T	7.37:g.21655910G>T	ENSP00000330671:p.Lys1365Asn		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K1365N	ENST00000328843.6	37	c.4095		7	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576501	0.65878	.	.	ENSG00000105877	ENST00000328843	T	0.62364	0.03	5.79	5.79	0.91817	Dynein heavy chain, domain-2 (1);	0.052756	0.64402	D	0.000001	T	0.68366	0.2993	.	.	.	0.53688	D	0.999979	D	0.52996	0.957	P	0.53490	0.727	T	0.63391	-0.6648	9	0.26408	T	0.33	.	16.2979	0.82784	0.0:0.0:0.8673:0.1327	.	1365	Q96DT5	DYH11_HUMAN	N	1365	ENSP00000330671:K1365N	ENSP00000330671:K1365N	K	+	3	2	DNAH11	21622435	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.978000	0.49305	2.746000	0.94184	0.655000	0.94253	AAG	DNAH11	-	pfam_Dynein_heavy_dom-2	ENSG00000105877		0.418	DNAH11-201	KNOWN	basic|appris_candidate_longest	protein_coding	DNAH11	HGNC	protein_coding		-	0	48	0	G	NM_003777		21655910	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	21655910	G	T	21655910	3	4	57	1	0	0	0	0	1	0	0	0	4613	991	35	3	4181	3	DNAH11	7	21655910	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	20137488	21655910	137482753	163	14161											
TXNDC3	51314	genome.wustl.edu	37	chr7	37923916	37923916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatttagatgatgttttgCgtattattaaagatgaagac	13	18	8	2	1	0	5	0	2	0	3	0	5	0	5	0	0	1	2	0	0	7	9			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:37923916C>T	ENST00000199447.4	+	13	1378	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	NME8_ENST00000440017.1_Missense_Mutation_p.R336C|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	336	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGATGTTTTGCGTATTATTAA	0.303																																																	0													82	79	80					7																	37923916		2203	4294	6497	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1006C>T	7.37:g.37923916C>T	ENSP00000199447:p.Arg336Cys		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.R336C	ENST00000199447.4	37	c.1006	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	C	8.010	0.757219	0.15846	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.55760	0.5;0.5	3.95	-7.9	0.01169	.	2.988130	0.00839	N	0.001733	T	0.56217	0.1970	L	0.54323	1.7	0.09310	N	1	P	0.50819	0.939	P	0.53062	0.717	T	0.65809	-0.6078	10	0.59425	D	0.04	0.0213	8.6308	0.33917	0.2926:0.2311:0.4763:0.0	.	336	Q8N427	TXND3_HUMAN	C	336	ENSP00000199447:R336C;ENSP00000397063:R336C	ENSP00000199447:R336C	R	+	1	0	TXNDC3	37890441	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.848000	0.04326	-2.034000	0.00924	-1.081000	0.02215	CGT	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.303	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1		0	29	0	C	NM_016616		37923916	1			no_errors	ENST00000199447	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.001	T	T	37923916	C	T	37923916	3	4	57	1	0	0	0	0	1	0	0	0	16847	768	27	1	1048	1	TXNDC3	7	37923916	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	16268006	37923916	121214747	164	14162											
BLVRA	644	genome.wustl.edu	37	chr7	43840087	43840087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttgcacgaggagcatGttgaactcttgatggaggaa	12	10	13	6	1	2	2	0	2	2	0	2	6	2	5	0	3	3	3	0	3	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:43840087G>T	ENST00000402924.1	+	7	539	c.376G>T	c.(376-378)Gtt>Ttt	p.V126F	BLVRA_ENST00000265523.4_Missense_Mutation_p.V126F	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	126					heme catabolic process (GO:0042167)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	biliverdin reductase activity (GO:0004074)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12						CGAGGAGCATGTTGAACTCTT	0.483																																																	0													113	105	108					7																	43840087		2203	4300	6503	SO:0001583	missense	0			BC008456	CCDS5472.1	7p13	2012-10-02			ENSG00000106605	ENSG00000106605	1.3.1.24		1062	protein-coding gene	gene with protein product		109750		BLVR			Standard	NM_001253823		Approved		uc003tir.3	P53004	OTTHUMG00000128953	ENST00000402924.1:c.376G>T	7.37:g.43840087G>T	ENSP00000385757:p.Val126Phe		A8K747|O95019|Q86UX0|Q96QL4|Q9BRW8	Missense_Mutation	SNP	pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A	p.V126F	ENST00000402924.1	37	c.376	CCDS5472.1	7	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775246	0.49786	.	.	ENSG00000106605	ENST00000265523;ENST00000402924	T;T	0.22743	1.94;1.94	5.21	-3.48	0.04739	NAD(P)-binding domain (1);	0.346364	0.31612	N	0.007358	T	0.14700	0.0355	L	0.60067	1.865	0.27001	N	0.964902	P	0.37352	0.591	B	0.32928	0.155	T	0.09292	-1.0681	10	0.52906	T	0.07	.	7.2355	0.26067	0.675:0.0:0.1859:0.1392	.	126	P53004	BIEA_HUMAN	F	126	ENSP00000265523:V126F;ENSP00000385757:V126F	ENSP00000265523:V126F	V	+	1	0	BLVRA	43806612	0.962000	0.33011	0.207000	0.23584	0.994000	0.84299	1.231000	0.32624	-0.525000	0.06391	0.655000	0.94253	GTT	BLVRA	-	pirsf_Biliverdin_Rdtase_A	ENSG00000106605		0.483	BLVRA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BLVRA	HGNC	protein_coding	OTTHUMT00000339006.1	-	0	50	0	G	NM_000712		43840087	1	tier1	-	no_errors	ENST00000265523	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.709	T	T	43840087	G	T	43840087	3	4	57	1	0	0	0	0	1	0	0	0	1453	1377	48	3	394	3	BLVRA	7	43840087	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5916171	43840087	115298576	165	14163											
ZPBP	11055	genome.wustl.edu	37	chr7	50022988	50022988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacattcattccatatcctGgaaagcagcgattaatccaa	14	10	7	10	1	1	0	1	0	0	0	4	3	4	2	3	2	2	1	3	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:50022988G>T	ENST00000046087.2	-	7	980	c.911C>A	c.(910-912)cCa>cAa	p.P304Q	ZPBP_ENST00000491129.1_5'UTR|ZPBP_ENST00000419417.1_Missense_Mutation_p.P303Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	304					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCCATATCCTGGAAAGCAGCG	0.343																																																	0													92	87	89					7																	50022988		2203	4300	6503	SO:0001583	missense	0			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.911C>A	7.37:g.50022988G>T	ENSP00000046087:p.Pro304Gln		A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	pfam_Sp38-bd,pfscan_Ig-like_dom	p.P304Q	ENST00000046087.2	37	c.911	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789588	0.70337	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.68331	-0.32;-0.32	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000011	D	0.82962	0.5151	M	0.80183	2.485	0.40033	D	0.97555	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83663	0.0162	9	.	.	.	-16.7628	17.8445	0.88725	0.0:0.0:1.0:0.0	.	303;304	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	Q	304;303	ENSP00000046087:P304Q;ENSP00000402071:P303Q	.	P	-	2	0	ZPBP	49993534	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.285000	0.58989	2.733000	0.93635	0.637000	0.83480	CCA	ZPBP	-	pfam_Sp38-bd	ENSG00000042813		0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	HGNC	protein_coding	OTTHUMT00000251374.1	-	0	48	0	G	NM_007009		50022988	-1	tier1	-	no_errors	ENST00000046087	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	50022988	G	T	50022988	3	4	57	1	0	0	0	0	1	0	0	0	18267	1348	47	3	152	3	ZPBP	7	50022988	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6182901	50022988	109115675	166	14164											
COBL	23242	genome.wustl.edu	37	chr7	51096450	51096450	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagagctctctgagggtcgGcccaggtgtttttccacaga	7	10	13	11	1	1	3	0	1	1	2	4	3	2	3	2	3	1	3	2	3	0	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:51096450G>T	ENST00000265136.7	-	10	2508	c.2343C>A	c.(2341-2343)ggC>ggA	p.G781G	COBL_ENST00000395542.2_Silent_p.G863G	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	781					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGAGGGTCGGCCCAGGTGTT	0.572																																					NSCLC(189;2119 2138 12223 30818 34679)												0													38	41	40					7																	51096450		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2343C>A	7.37:g.51096450G>T			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.G863	ENST00000265136.7	37	c.2589	CCDS34637.1	7	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098974	0.08681	.	.	ENSG00000106078	ENST00000457306	.	.	.	5.63	-6.12	0.02124	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41251	-0.9519	5	0.87932	D	0	.	2.0124	0.03490	0.4912:0.1427:0.195:0.171	.	.	.	.	D	227	.	ENSP00000397300:A227D	A	-	2	0	COBL	51063944	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.892000	0.04131	-0.966000	0.03587	-0.797000	0.03246	GCC	COBL	-	NULL	ENSG00000106078		0.572	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1		0	25	0	G	NM_015198		51096450	-1			no_errors	ENST00000395542	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.000	T	T	51096450	G	T	51096450	2	4	57	1	0	0	0	0	0	0	0	1	3660	1190	42	3		3	COBL	7	51096450	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1073462	51096450	108042213	167	14165											
BCL7B	9275	genome.wustl.edu	37	chr7	72951642	72951642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggtgctagctttctgacgCcgtctgcggcactgtgggtt	4	13	14	10	3	2	1	0	1	2	0	2	1	2	1	1	3	3	4	1	3	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:72951642C>T	ENST00000223368.2	-	6	1018	c.595G>A	c.(595-597)Gcg>Acg	p.A199T	BCL7B_ENST00000411832.1_Missense_Mutation_p.A142T|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	199				A -> R (in Ref. 1; CAA62012). {ECO:0000305}.			actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTTCTGACGCCGTCTGCGGC	0.622																																																	0													78	85	82					7																	72951642		2203	4300	6503	SO:0001583	missense	0			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.595G>A	7.37:g.72951642C>T	ENSP00000223368:p.Ala199Thr		A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Missense_Mutation	SNP	pfam_BCL7	p.A199T	ENST00000223368.2	37	c.595	CCDS5550.1	7	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268494	0.23136	.	.	ENSG00000106635	ENST00000223368;ENST00000411832	T	0.46063	0.88	5.13	2.93	0.34026	.	0.606668	0.17378	N	0.176403	T	0.19446	0.0467	N	0.08118	0	0.09310	N	0.999992	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.19289	-1.0310	10	0.21540	T	0.41	.	6.3554	0.21398	0.0:0.7285:0.0:0.2715	.	142;199	C9JWD3;Q9BQE9	.;BCL7B_HUMAN	T	199;142	ENSP00000223368:A199T	ENSP00000223368:A199T	A	-	1	0	BCL7B	72589578	0.534000	0.26362	0.496000	0.27539	0.343000	0.28985	1.376000	0.34306	0.508000	0.28173	0.549000	0.68633	GCG	BCL7B	-	NULL	ENSG00000106635		0.622	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7B	HGNC	protein_coding	OTTHUMT00000252194.1	-	0	35	0	C	NM_001707		72951642	-1	tier1	-	no_errors	ENST00000223368	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.569	T	T	72951642	C	T	72951642	3	4	57	1	0	0	0	0	1	0	0	0	1380	739	26	3	17	3	BCL7B	7	72951642	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	21855192	72951642	86187021	168	14166											
TBL2	26608	genome.wustl.edu	37	chr7	72987235	72987235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggtgttgatggtagacaGcacttgacccttcaggctcc	7	12	12	10	0	1	3	1	2	0	1	2	3	2	3	2	3	1	5	2	3	1	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:72987235G>T	ENST00000305632.5	-	5	905	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	TBL2_ENST00000432538.1_Missense_Mutation_p.L186M|TBL2_ENST00000452475.1_Missense_Mutation_p.L222M|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	222							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGGTAGACAGCACTTGACCC	0.567																																																	0													257	177	204					7																	72987235		2203	4300	6503	SO:0001583	missense	0			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.664C>A	7.37:g.72987235G>T	ENSP00000307260:p.Leu222Met		Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L222M	ENST00000305632.5	37	c.664	CCDS5551.1	7	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073439	0.76415	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538;ENST00000452475	T;T;T	0.34275	1.37;1.37;1.37	5.95	3.05	0.35203	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.070216	0.64402	D	0.000019	T	0.61739	0.2371	M	0.88241	2.94	0.52501	D	0.999958	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.979	T	0.63216	-0.6687	10	0.72032	D	0.01	-15.8128	9.2685	0.37657	0.2382:0.0:0.7618:0.0	.	186;222	E9PF19;Q9Y4P3	.;TBL2_HUMAN	M	222;222;186;222	ENSP00000307260:L222M;ENSP00000413979:L186M;ENSP00000407371:L222M	ENSP00000307260:L222M	L	-	1	2	TBL2	72625171	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	3.608000	0.54109	0.351000	0.24027	0.561000	0.74099	CTG	TBL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106638		0.567	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	-	0	81	0	G	NM_012453		72987235	-1	tier1	-	no_errors	ENST00000305632	ensembl	human	known	74_37	missense	5.94	95	6	SNP	1.000	T	T	72987235	G	T	72987235	3	4	57	1	0	0	0	0	1	0	0	0	15689	962	34	3	691	3	TBL2	7	72987235	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	35593	72987235	86151428	169	14167											
SLC25A40	55972	genome.wustl.edu	37	chr7	87465575	87465575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatcactagtattgctGccttcgaacattttgtttct	9	16	6	10	1	2	0	1	0	1	0	3	1	2	0	1	0	4	4	1	0	3	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:87465575G>T	ENST00000341119.5	-	12	1352	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	336					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TAGTATTGCTGCCTTCGAACA	0.363																																																	0													52	52	52					7																	87465575		2203	4299	6502	SO:0001583	missense	0			AF125531	CCDS5610.1	7q21.12	2013-05-22			ENSG00000075303	ENSG00000075303		"Solute carriers"	29680	protein-coding gene	gene with protein product		610821				16949250	Standard	NM_018843		Approved	MCFP	uc003uje.3	Q8TBP6	OTTHUMG00000131033	ENST00000341119.5:c.1006C>A	7.37:g.87465575G>T	ENSP00000344831:p.Gln336Lys		A8K483|D6W5P6|Q53GB1|Q9UHR1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q336K	ENST00000341119.5	37	c.1006	CCDS5610.1	7	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587756	0.28268	.	.	ENSG00000075303	ENST00000341119	T	0.79940	-1.32	5.63	3.79	0.43588	.	0.615310	0.17509	N	0.171697	T	0.65719	0.2718	L	0.29908	0.895	0.09310	N	1	B	0.25667	0.131	B	0.15484	0.013	T	0.52185	-0.8609	10	0.30854	T	0.27	.	5.9961	0.19495	0.0709:0.2326:0.5627:0.1338	.	336	Q8TBP6	S2540_HUMAN	K	336	ENSP00000344831:Q336K	ENSP00000344831:Q336K	Q	-	1	0	SLC25A40	87303511	0.009000	0.17119	0.016000	0.15963	0.280000	0.26924	1.055000	0.30467	0.815000	0.34398	0.650000	0.86243	CAG	SLC25A40	-	NULL	ENSG00000075303		0.363	SLC25A40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A40	HGNC	protein_coding	OTTHUMT00000253677.5	-	0	64	0	G	NM_018843		87465575	-1	tier1	-	no_errors	ENST00000341119	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.007	T	T	87465575	G	T	87465575	3	4	57	1	0	0	0	0	1	0	0	0	14550	1328	46	3	14	3	SLC25A40	7	87465575	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	14478340	87465575	71673088	170	14168											
BRI3	25798	genome.wustl.edu	37	chr7	97911717	97911717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagccggaccgtcacccGctatcctgccaactctatcg	8	7	7	19	4	2	0	1	0	1	0	4	1	3	1	6	1	3	1	6	1	3	2	rs183180327	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:97911717G>T	ENST00000297290.3	+	2	318	c.197G>T	c.(196-198)cGc>cTc	p.R66L	BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000539286.1_Missense_Mutation_p.R66L	NM_015379.4	NP_056194.1	Q9NQX7	ITM2C_HUMAN	brain protein I3	0					negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)	4	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)					ACCGTCACCCGCTATCCTGCC	0.622																																																	0													114	89	97					7																	97911717		2203	4300	6503	SO:0001583	missense	0			AF106966	CCDS5656.1, CCDS55133.1	7q21.3	2008-09-05			ENSG00000164713	ENSG00000164713			1109	protein-coding gene	gene with protein product		615628				14592447	Standard	NM_015379		Approved		uc003upi.2	O95415	OTTHUMG00000154275	ENST00000297290.3:c.197G>T	7.37:g.97911717G>T	ENSP00000297290:p.Arg66Leu		B3KPG4|Q4G0A8|Q53H84|Q6IAE7|Q86VK5|Q8N288|Q8TAW0|Q9BUP8	Missense_Mutation	SNP	pfam_Brain_I3	p.R66L	ENST00000297290.3	37	c.197	CCDS5656.1	7	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739592	0.30774	.	.	ENSG00000164713	ENST00000539286;ENST00000297290	T;T	0.47528	0.84;0.84	2.86	1.96	0.26148	.	0.220262	0.23012	N	0.052952	T	0.33206	0.0855	N	0.22421	0.69	0.30055	N	0.811396	D;P	0.56035	0.974;0.632	P;B	0.46718	0.525;0.277	T	0.17258	-1.0375	10	0.31617	T	0.26	-14.6497	7.4344	0.27148	0.1425:0.0:0.8575:0.0	.	66;66	F5GXW6;O95415	.;BRI3_HUMAN	L	66	ENSP00000440936:R66L;ENSP00000297290:R66L	ENSP00000297290:R66L	R	+	2	0	BRI3	97749653	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	3.794000	0.55492	1.605000	0.50152	0.561000	0.74099	CGC	BRI3	-	pfam_Brain_I3	ENSG00000164713		0.622	BRI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3	HGNC	protein_coding	OTTHUMT00000334674.1	-	0	74	0	G	NM_015379		97911717	1	tier1	-	no_errors	ENST00000297290	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.974	T	T	97911717	G	T	97911717	3	4	57	1	0	0	0	0	1	0	0	0	1516	1087	38	2	203	2	BRI3	7	97911717	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	10446142	97911717	61226946	171	14169											
MYL10	93408	genome.wustl.edu	37	chr7	101259547	101259547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcgaacactttgaaGgcgtggagaatggtctcctc	9	11	12	9	2	2	2	1	1	1	1	5	4	2	2	1	3	1	0	1	3	3	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:101259547G>T	ENST00000223167.4	-	6	663	c.486C>A	c.(484-486)gcC>gcA	p.A162A		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	162	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						ACACTTTGAAGGCGTGGAGAA	0.562																																					Esophageal Squamous(24;575 709 17516 40384 51639)												0													115	92	100					7																	101259547		2203	4300	6503	SO:0001819	synonymous_variant	0			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.486C>A	7.37:g.101259547G>T				Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.A162	ENST00000223167.4	37	c.486	CCDS34713.1	7																																																																																			MYL10	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000106436		0.562	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL10	HGNC	protein_coding	OTTHUMT00000347575.1	-	0	111	0	G	NM_138403		101259547	-1	tier1	-	no_errors	ENST00000223167	ensembl	human	known	74_37	silent	5.61	101	6	SNP	1.000	T	T	101259547	G	T	101259547	2	4	57	1	0	0	0	0	0	0	0	1	10082	987	35	3		3	MYL10	7	101259547	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3347830	101259547	57879116	172	14170											
PRKAR2B	5577	genome.wustl.edu	37	chr7	106762438	106762438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgaagaagaagatgatGcagagtccagggtatgtaat	15	9	13	4	0	0	7	0	3	0	4	1	7	1	7	1	1	1	3	1	1	5	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:106762438G>A	ENST00000265717.4	+	3	644	c.385G>A	c.(385-387)Gca>Aca	p.A129T	PRKAR2B_ENST00000393613.2_3'UTR|CTA-360L10.1_ENST00000494849.1_RNA	NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	129	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						AGAAGATGATGCAGAGTCCAG	0.294																																																	0													117	116	117					7																	106762438		2203	4299	6502	SO:0001583	missense	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.385G>A	7.37:g.106762438G>A	ENSP00000265717:p.Ala129Thr		A4D0R9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.A129T	ENST00000265717.4	37	c.385	CCDS5740.1	7	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326310	0.24080	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.81659	-1.52	5.25	5.25	0.73442	.	0.276195	0.42172	D	0.000745	T	0.63153	0.2487	N	0.08118	0	0.43583	D	0.995921	B	0.02656	0.0	B	0.01281	0.0	T	0.59380	-0.7465	10	0.12103	T	0.63	-16.3341	16.1148	0.81301	0.0:0.0:1.0:0.0	.	129	P31323	KAP3_HUMAN	T	129;129;116	ENSP00000265717:A129T	ENSP00000265717:A129T	A	+	1	0	PRKAR2B	106549674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.398000	0.34554	2.608000	0.88229	0.655000	0.94253	GCA	PRKAR2B	-	pirsf_cAMP_dep_PK_reg_su	ENSG00000005249		0.294	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1	-	0	32	0	G			106762438	1	tier1	-	no_errors	ENST00000265717	ensembl	human	known	74_37	missense	68.97	9	20	SNP	1.000	A	A	106762438	G	A	106762438	3	1	57	1	0	0	0	0	1	0	0	0	12548	1319	46	3	395	3	PRKAR2B	7	106762438	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5502891	106762438	52376225	173	14171											
GPR85	54329	genome.wustl.edu	37	chr7	112723818	112723818	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagacagcagctgttagaAatccccctggtactacaggc	11	8	9	13	0	0	2	0	0	0	2	2	2	2	2	3	2	4	4	3	2	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:112723818A>T	ENST00000297146.3	-	3	1562	c.959T>A	c.(958-960)tTt>tAt	p.F320Y	GPR85_ENST00000449591.1_Missense_Mutation_p.F320Y|GPR85_ENST00000424100.1_Missense_Mutation_p.F320Y|GPR85_ENST00000501255.2_Missense_Mutation_p.F320Y|GPR85_ENST00000487573.1_5'Flank	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	320					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGCTGTTAGAAATCCCCCTGG	0.473																																																	0													54	57	56					7																	112723818		2203	4300	6503	SO:0001583	missense	0			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"GPCR / Class A : Orphans"	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.959T>A	7.37:g.112723818A>T	ENSP00000297146:p.Phe320Tyr		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F320Y	ENST00000297146.3	37	c.959	CCDS5758.1	7	.	.	.	.	.	.	.	.	.	.	A	0.270	-0.993620	0.02145	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.116274	0.64402	N	0.000011	T	0.10252	0.0251	N	0.00289	-1.7	0.50171	D	0.999851	B	0.02656	0.0	B	0.04013	0.001	T	0.24476	-1.0159	10	0.11182	T	0.66	.	14.9933	0.71406	1.0:0.0:0.0:0.0	.	320	P60893	GPR85_HUMAN	Y	320	ENSP00000445808:F320Y;ENSP00000297146:F320Y;ENSP00000396763:F320Y;ENSP00000401178:F320Y	ENSP00000297146:F320Y	F	-	2	0	GPR85	112511054	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.749000	0.74883	2.195000	0.70347	0.477000	0.44152	TTT	GPR85	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000164604		0.473	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR85	HGNC	protein_coding	OTTHUMT00000346650.2	-	0	57	0	A			112723818	-1	tier1	-	no_errors	ENST00000297146	ensembl	human	known	74_37	missense	16.39	51	10	SNP	1.000	T	T	112723818	A	T	112723818	3	4	57	1	0	0	0	0	1	0	0	0	6741	14	1	5	157	5	GPR85	7	112723818	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	5961380	112723818	46414845	174	14172											
TES	26136	genome.wustl.edu	37	chr7	115874616	115874616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtcacgagcaaggatttgGagccccttgtttaaaatgca	12	10	11	8	1	1	0	1	0	0	0	1	3	1	2	2	3	3	3	2	3	3	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:115874616G>T	ENST00000358204.4	+	2	271	c.56G>T	c.(55-57)gGa>gTa	p.G19V	TES_ENST00000485009.1_3'UTR|TES_ENST00000393481.2_Missense_Mutation_p.G10V|TES_ENST00000537767.1_5'UTR	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	19					negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CAAGGATTTGGAGCCCCTTGT	0.323																																																	0													128	140	136					7																	115874616		2203	4300	6503	SO:0001583	missense	0			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.56G>T	7.37:g.115874616G>T	ENSP00000350937:p.Gly19Val		A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G19V	ENST00000358204.4	37	c.56	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246856	0.80024	.	.	ENSG00000135269	ENST00000358204;ENST00000257721;ENST00000393481	T;T	0.69806	-0.43;-0.43	4.72	4.72	0.59763	.	0.189488	0.36101	N	0.002799	D	0.84515	0.5489	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.88003	0.2757	10	0.87932	D	0	-5.5051	16.8348	0.85954	0.0:0.0:1.0:0.0	.	19;19	B7Z5L5;Q9UGI8	.;TES_HUMAN	V	19;19;10	ENSP00000350937:G19V;ENSP00000377121:G10V	ENSP00000257721:G19V	G	+	2	0	TES	115661852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.789000	0.85783	2.345000	0.79718	0.650000	0.86243	GGA	TES	-	NULL	ENSG00000135269		0.323	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	-	0	58	0	G	NM_015641		115874616	1	tier1	-	no_errors	ENST00000358204	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	115874616	G	T	115874616	3	4	57	1	0	0	0	0	1	0	0	0	15812	1174	41	3	62	3	TES	7	115874616	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3150798	115874616	43264047	175	14173											
SLC13A1	6561	genome.wustl.edu	37	chr7	122811922	122811922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaacagataactccaattaGcagtaagtgaaaatccttga	18	10	6	7	0	0	3	0	2	0	1	2	3	2	3	2	0	3	2	2	0	8	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:122811922G>T	ENST00000194130.2	-	3	304	c.265C>A	c.(265-267)Cta>Ata	p.L89I	SLC13A1_ENST00000539873.1_Missense_Mutation_p.L25I	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	89					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTCCAATTAGCAGTAAGTGA	0.353																																																	0													129	120	123					7																	122811922		2203	4300	6503	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.265C>A	7.37:g.122811922G>T	ENSP00000194130:p.Leu89Ile		Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.L89I	ENST00000194130.2	37	c.265	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665720	0.67700	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.02280	4.36;4.36	5.61	3.68	0.42216	.	0.000000	0.85682	D	0.000000	T	0.12433	0.0302	M	0.86343	2.81	0.50632	D	0.999884	D	0.89917	1.0	D	0.91635	0.999	T	0.00101	-1.2064	10	0.87932	D	0	.	8.0992	0.30846	0.263:0.0:0.737:0.0	.	89	Q9BZW2	S13A1_HUMAN	I	89;25	ENSP00000194130:L89I;ENSP00000441309:L25I	ENSP00000194130:L89I	L	-	1	2	SLC13A1	122599158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.820000	0.27323	0.735000	0.32537	0.655000	0.94253	CTA	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.353	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	-	0	24	0	G	NM_022444		122811922	-1	tier1	-	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	122811922	G	T	122811922	3	4	57	1	0	0	0	0	1	0	0	0	14436	962	34	3	1574	3	SLC13A1	7	122811922	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6937306	122811922	36326741	176	14174											
PLXNA4	91584	genome.wustl.edu	37	chr7	131908351	131908351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgggtgcagacatgccGgtatttacaccagtggcagc	9	9	13	10	1	1	1	1	0	0	1	1	1	1	1	2	3	4	3	2	3	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:131908351G>A	ENST00000359827.3	-	9	2994	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R678W			Q9HCM2	PLXA4_HUMAN	plexin A4	678	PSI 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592																																																	0													44	47	46					7																	131908351		2099	4251	6350	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2032C>T	7.37:g.131908351G>A	ENSP00000352882:p.Arg678Trp		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R678W	ENST00000359827.3	37	c.2032	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120518	0.77323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.18502	2.21;2.21	5.8	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	M	0.87547	2.89	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	T	0.55885	-0.8070	10	0.72032	D	0.01	.	14.8525	0.70309	0.0:0.0:0.7376:0.2624	.	678	Q9HCM2	PLXA4_HUMAN	W	678	ENSP00000323194:R678W;ENSP00000352882:R678W	ENSP00000323194:R678W	R	-	1	2	PLXNA4	131558891	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	3.686000	0.54685	0.765000	0.33221	-0.169000	0.13324	CGG	PLXNA4	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000221866		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	43	0	G	NM_181775		131908351	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	A	A	131908351	G	A	131908351	3	1	57	1	0	0	0	0	1	0	0	0	12161	1115	39	1	3748	1	PLXNA4	7	131908351	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9096429	131908351	27230312	177	14175											
GSTK1	373156	genome.wustl.edu	37	chr7	142964732	142964732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagagaaggctggtatgtCtgcagaacaagcccagggac	12	6	14	9	0	1	2	0	0	1	2	1	4	1	3	1	3	4	4	1	3	4	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:142964732C>G	ENST00000358406.5	+	6	514	c.443C>G	c.(442-444)tCt>tGt	p.S148C	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.S105C|GSTK1_ENST00000479303.1_Missense_Mutation_p.S204C|GSTK1_ENST00000409500.3_Missense_Mutation_p.S136C	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	148					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GCTGGTATGTCTGCAGAACAA	0.498																																																	0													122	115	118					7																	142964732		2203	4300	6503	SO:0001583	missense	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.443C>G	7.37:g.142964732C>G	ENSP00000351181:p.Ser148Cys		B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	p.S204C	ENST00000358406.5	37	c.611	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241056	0.79912	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.28	5.28	0.74379	Protein disulphide isomerase, central domain (1);DSBA-like thioredoxin domain (1);Thioredoxin-like fold (1);	0.279722	0.42053	D	0.000779	T	0.72558	0.3475	M	0.87547	2.89	0.20926	N	0.999826	D;D;D;P	0.69078	0.997;0.972;0.995;0.859	P;P;P;P	0.58013	0.792;0.745;0.831;0.544	T	0.69720	-0.5069	9	0.66056	D	0.02	-4.7908	16.4759	0.84132	0.0:1.0:0.0:0.0	.	136;105;204;148	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	C	136;105;148;204	.	ENSP00000351181:S148C	S	+	2	0	GSTK1	142674854	0.782000	0.28689	0.031000	0.17742	0.487000	0.33371	2.847000	0.48270	2.494000	0.84150	0.549000	0.68633	TCT	GSTK1	-	pfam_DSBA-like_thioredoxin_dom,superfamily_Thioredoxin-like_fold	ENSG00000197448		0.498	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	HGNC	protein_coding	OTTHUMT00000327091.1	-	0	45	0	C	NM_015917		142964732	1	tier1	-	no_errors	ENST00000479303	ensembl	human	known	74_37	missense	39.74	47	31	SNP	0.074	G	G	142964732	C	G	142964732	3	3	57	1	0	0	0	0	1	0	0	0	6863	913	32	5	629	5	GSTK1	7	142964732	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	11056381	142964732	16173931	178	14176											
ZNF425	155054	genome.wustl.edu	37	chr7	148800770	148800770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcgcccccacgtacgtGaagctccttccacactcatc	8	9	7	17	3	1	2	1	2	0	0	4	2	3	2	4	0	3	2	4	0	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:148800770G>T	ENST00000378061.2	-	4	2325	c.2193C>A	c.(2191-2193)ttC>ttA	p.F731L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	731					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACGTACGTGAAGCTCCTTC	0.567																																																	0													70	62	64					7																	148800770		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2193C>A	7.37:g.148800770G>T	ENSP00000367300:p.Phe731Leu		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.F731L	ENST00000378061.2	37	c.2193	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815593	0.70912	.	.	ENSG00000204947	ENST00000378061	T	0.46063	0.88	3.25	-0.889	0.10580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65688	0.2715	M	0.91038	3.17	0.26753	N	0.97016	D	0.89917	1.0	D	0.78314	0.991	T	0.55835	-0.8078	9	0.72032	D	0.01	.	7.342	0.26641	0.4077:0.0:0.5923:0.0	.	731	Q6IV72	ZN425_HUMAN	L	731	ENSP00000367300:F731L	ENSP00000367300:F731L	F	-	3	2	ZNF425	148431703	0.050000	0.20438	0.032000	0.17829	0.857000	0.48899	0.190000	0.17057	-0.322000	0.08615	0.655000	0.94253	TTC	ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.567	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0	53	0	G	XM_088140		148800770	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.948	T	T	148800770	G	T	148800770	3	4	57	1	0	0	0	0	1	0	0	0	17947	1281	45	3	69	3	ZNF425	7	148800770	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5836038	148800770	10337893	179	14177											
ZNF425	155054	genome.wustl.edu	37	chr7	148802607	148802607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacaagtcctgtttttgaGgaccatttaaacggcaatcc	12	11	7	11	1	0	1	0	1	0	0	2	2	2	2	3	2	1	2	3	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:148802607G>T	ENST00000378061.2	-	4	488	c.356C>A	c.(355-357)cCt>cAt	p.P119H		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	119					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGTTTTTGAGGACCATTTAA	0.443																																																	0													109	102	104					7																	148802607		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.356C>A	7.37:g.148802607G>T	ENSP00000367300:p.Pro119His		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.P119H	ENST00000378061.2	37	c.356	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181489	0.21787	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.07327	3.2;4.97	2.75	0.246	0.15516	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P	0.39782	0.688	B	0.31751	0.135	T	0.43734	-0.9373	9	0.18276	T	0.48	.	5.655	0.17637	0.6997:0.0:0.3003:0.0	.	119	Q6IV72	ZN425_HUMAN	H	119;141	ENSP00000367300:P119H;ENSP00000420379:P141H	ENSP00000367300:P119H	P	-	2	0	ZNF425	148433540	0.000000	0.05858	0.012000	0.15200	0.014000	0.08584	-0.302000	0.08221	0.201000	0.20466	-0.302000	0.09304	CCT	ZNF425	-	NULL	ENSG00000204947		0.443	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0	27	0	G	XM_088140		148802607	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.017	T	T	148802607	G	T	148802607	3	4	57	1	0	0	0	0	1	0	0	0	17947	1000	35	3	1906	3	ZNF425	7	148802607	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1837	148802607	10336056	180	14178											
SSPO	23145	genome.wustl.edu	37	chr7	149486259	149486259	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgccccatgctaggttgtgCcgccccaggctgtggggagg	4	9	16	12	1	0	0	0	0	0	0	0	1	0	1	5	5	3	3	5	5	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:149486259C>T	ENST00000378016.2	+	0	4235							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTAGGTTGTGCCGCCCCAGGC	0.662																																																	0													14	16	16					7																	149486259		2105	4226	6331			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149486259C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.662	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	76	0	C			149486259	1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	7.02	53	4	SNP	1.000	T	T	149486259	C	T	149486259	1	4	57	0	1	0	0	0	0	0	0	0	15236	739	26	3		3	SSPO	7	149486259	RNA	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	683652	149486259	9652404	181	14179											
NUB1	51667	genome.wustl.edu	37	chr7	151065971	151065971	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatattaccaaccgcagaGaggtacccactttcacatgc	12	9	6	14	1	2	1	2	0	0	1	2	2	2	1	3	1	4	2	3	1	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr7:151065971G>T	ENST00000355851.4	+	11	1323	c.1246G>T	c.(1246-1248)Gag>Tag	p.E416*	NUB1_ENST00000568733.1_Nonsense_Mutation_p.E440*|NUB1_ENST00000413040.2_Nonsense_Mutation_p.E440*|NUB1_ENST00000566856.1_Nonsense_Mutation_p.E416*	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	416					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CAACCGCAGAGAGGTACCCAC	0.488																																																	0													49	49	49					7																	151065971		1920	4124	6044	SO:0001587	stop_gained	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.1246G>T	7.37:g.151065971G>T	ENSP00000348110:p.Glu416*		O95422|Q75MR9|Q8IX22|Q9BXR2	Nonsense_Mutation	SNP	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E440*	ENST00000355851.4	37	c.1318		7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	7.280190|7.280190|7.280190	0.98182|0.98182|0.98182	.|.|.	.|.|.	ENSG00000013374|ENSG00000013374|ENSG00000013374	ENST00000460712|ENST00000413040;ENST00000355851|ENST00000480714	.|.|.	.|.|.	.|.|.	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	0.104805|0.104805|.	0.64402|0.64402|.	D|D|.	0.000003|0.000003|.	T|.|T	0.78578|.|0.78578	0.4305|.|0.4305	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.81193|.|0.81193	-0.1044|.|-0.1044	4|.|4	.|0.31617|0.87932	.|T|D	.|0.26|0	-12.9999|-12.9999|-12.9999	18.3594|18.3594|18.3594	0.90370|0.90370|0.90370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	D|X|I	51|416|19	.|.|.	.|ENSP00000348110:E416X|ENSP00000419679:R19I	E|E|R	+|+|+	3|1|2	2|0|0	NUB1|NUB1|NUB1	150696904|150696904|150696904	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	5.396000|5.396000|5.396000	0.66297|0.66297|0.66297	2.564000|2.564000|2.564000	0.86499|0.86499|0.86499	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|GAG|AGA	NUB1	-	superfamily_UBA-like	ENSG00000013374		0.488	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding		-	0	46	0	G	NM_016118		151065971	1	tier1	-	no_errors	ENST00000568733	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T	T	151065971	G	T	151065971	4	4	57	1	0	0	0	0	0	1	0	0	10753	943	33	3	1284	3	NUB1	7	151065971	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1579712	151065971	8072692	182	14180											
DLC1	10395	genome.wustl.edu	37	chr8	12947852	12947852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaacaggccatccacaCagtcctggaggaagtgttgg	11	9	11	10	0	0	0	0	0	0	0	2	2	2	2	3	4	1	1	3	4	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:12947852C>A	ENST00000276297.4	-	15	4392	c.3983G>T	c.(3982-3984)tGt>tTt	p.C1328F	DLC1_ENST00000512044.2_Missense_Mutation_p.C925F|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.C817F|DLC1_ENST00000358919.2_Missense_Mutation_p.C891F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1328	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCCATCCACACAGTCCTGGAG	0.498																																																	0													112	108	110					8																	12947852		2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3983G>T	8.37:g.12947852C>A	ENSP00000276297:p.Cys1328Phe		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.C1328F	ENST00000276297.4	37	c.3983	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891116	0.72524	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.32	4.44	0.53790	Lipid-binding START (3);START-like domain (1);	0.143577	0.64402	D	0.000009	T	0.80727	0.4678	L	0.54323	1.7	0.80722	D	1	P;B;D	0.54964	0.933;0.44;0.969	P;B;P	0.56648	0.803;0.348;0.558	T	0.81810	-0.0762	10	0.66056	D	0.02	.	9.8722	0.41182	0.0:0.7872:0.1407:0.0721	.	1328;925;891	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	F	1328;891;267;925;817	ENSP00000276297:C1328F;ENSP00000351797:C891F;ENSP00000422595:C925F;ENSP00000428028:C817F	ENSP00000276297:C1328F	C	-	2	0	DLC1	12992223	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	3.718000	0.54919	1.603000	0.50134	0.655000	0.94253	TGT	DLC1	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000164741		0.498	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0	18	0	C	NM_182643, NM_006094		12947852	-1			no_errors	ENST00000276297	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A	A	12947852	C	A	12947852	3	1	57	1	0	0	0	0	1	0	0	0	4564	478	17	3	619	3	DLC1	8	12947852	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09		12947852	133416170	183	14181											
DLC1	10395	genome.wustl.edu	37	chr8	12960301	12960301	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatttgtatactcactcGtttccgatgaggactaattt	10	16	7	8	2	1	1	1	1	0	0	3	3	2	2	1	1	2	3	1	1	4	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:12960301G>T	ENST00000276297.4	-	8	1973	c.1564C>A	c.(1564-1566)Cga>Aga	p.R522R	DLC1_ENST00000512044.2_Silent_p.R119R|DLC1_ENST00000520226.1_Silent_p.R11R|DLC1_ENST00000358919.2_Silent_p.R85R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	522					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATACTCACTCGTTTCCGATGA	0.363																																																	0													191	184	186					8																	12960301		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1564C>A	8.37:g.12960301G>T			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R522	ENST00000276297.4	37	c.1564	CCDS5989.1	8																																																																																			DLC1	-	NULL	ENSG00000164741		0.363	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	103	0	G	NM_182643, NM_006094		12960301	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.878	T	T	12960301	G	T	12960301	2	4	57	1	0	0	0	0	0	0	0	1	4564	1153	40	2		2	DLC1	8	12960301	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	12449	12960301	133403721	184	14182											
NEFM	4741	genome.wustl.edu	37	chr8	24772311	24772311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagctagagtcggtgcgCggcaccaaggagtccctgga	9	6	15	11	4	0	1	0	0	0	1	3	4	1	3	2	4	2	2	2	4	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:24772311C>T	ENST00000221166.5	+	1	1787	c.1005C>T	c.(1003-1005)cgC>cgT	p.R335R	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Silent_p.R335R|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Silent_p.R335R|NEFM_ENST00000521540.1_3'UTR|RP11-624C23.1_ENST00000519689.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	335	Coil 2B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTCGGTGCGCGGCACCAAGG	0.667																																																	0													13	14	14					8																	24772311		2203	4298	6501	SO:0001819	synonymous_variant	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1005C>T	8.37:g.24772311C>T			B4DGN2|E9PBF7|Q4QRK6	Silent	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.R335	ENST00000221166.5	37	c.1005	CCDS6046.1	8																																																																																			NEFM	-	pfam_IF,prints_Keratin_I	ENSG00000104722		0.667	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2	-	0	21	0	C	NM_005382		24772311	1	tier1	-	no_errors	ENST00000221166	ensembl	human	known	74_37	silent	100.00	0	2	SNP	0.977	T	T	24772311	C	T	24772311	2	4	57	1	0	0	0	0	0	0	0	1	10355	755	27	1		1	NEFM	8	24772311	Silent	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	11812010	24772311	121591711	185	14183											
CHD7	55636	genome.wustl.edu	37	chr8	61743014	61743014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagaagaaatattaccGagccatccttgagaagaatt	16	10	7	8	1	1	4	1	1	0	4	2	6	2	4	3	0	2	0	3	0	6	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:61743014G>T	ENST00000423902.2	+	15	4135	c.3656G>T	c.(3655-3657)cGa>cTa	p.R1219L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1219					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAATATTACCGAGCCATCCTT	0.398																																																	0													117	113	114					8																	61743014		1857	4092	5949	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3656G>T	8.37:g.61743014G>T	ENSP00000392028:p.Arg1219Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1219L	ENST00000423902.2	37	c.3656	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.334026	0.95758	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.93076	-3.16	5.47	5.47	0.80525	SNF2-related (1);	0.000000	0.64402	D	0.000004	D	0.95348	0.8490	L	0.41236	1.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95671	0.8723	10	0.87932	D	0	-8.6432	19.6762	0.95934	0.0:0.0:1.0:0.0	.	1219	Q9P2D1	CHD7_HUMAN	L	1219	ENSP00000392028:R1219L	ENSP00000307304:R1219L	R	+	2	0	CHD7	61905568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.729000	0.93468	0.591000	0.81541	CGA	CHD7	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000171316		0.398	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	39	0	G	XM_098762		61743014	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	61743014	G	T	61743014	3	4	57	1	0	0	0	0	1	0	0	0	3337	1058	37	2	3710	2	CHD7	8	61743014	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	36970703	61743014	84621008	186	14184											
TRPA1	8989	genome.wustl.edu	37	chr8	72984005	72984005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatttggccttctgctgcaGcataatgcaagaagaaggtg	12	10	11	8	0	1	2	0	0	1	2	1	2	1	2	1	2	4	4	1	2	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:72984005G>T	ENST00000262209.4	-	2	416	c.209C>A	c.(208-210)gCt>gAt	p.A70D		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	70					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTCTGCTGCAGCATAATGCAA	0.353																																																	0													150	134	139					8																	72984005		2203	4300	6503	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.209C>A	8.37:g.72984005G>T	ENSP00000262209:p.Ala70Asp		A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A70D	ENST00000262209.4	37	c.209	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802435	0.50315	.	.	ENSG00000104321	ENST00000262209	T	0.80566	-1.39	5.08	5.08	0.68730	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88562	0.6470	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	D	0.89959	0.4085	10	0.87932	D	0	-14.8224	18.4629	0.90746	0.0:0.0:1.0:0.0	.	70	O75762	TRPA1_HUMAN	D	70	ENSP00000262209:A70D	ENSP00000262209:A70D	A	-	2	0	TRPA1	73146559	1.000000	0.71417	0.921000	0.36526	0.011000	0.07611	6.705000	0.74644	2.368000	0.80403	0.563000	0.77884	GCT	TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	53	0	G	NM_007332		72984005	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.995	T	T	72984005	G	T	72984005	3	4	57	1	0	0	0	0	1	0	0	0	16625	971	34	3	3254	3	TRPA1	8	72984005	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11240991	72984005	73380017	187	14185											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75924771	75924771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaattggacagaatttggGagcacactggggaaggtatc	13	9	13	6	0	1	1	1	0	0	1	2	4	1	4	0	5	1	2	0	5	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:75924771G>T	ENST00000262207.4	+	3	830	c.362G>T	c.(361-363)gGa>gTa	p.G121V	CRISPLD1_ENST00000519798.1_3'UTR|CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	121	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGAATTTGGGAGCACACTGG	0.383																																																	0													129	118	122					8																	75924771		2203	4299	6502	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.362G>T	8.37:g.75924771G>T	ENSP00000262207:p.Gly121Val		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.G121V	ENST00000262207.4	37	c.362	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166348	0.78339	.	.	ENSG00000121005	ENST00000262207	T	0.09163	3.01	5.26	4.38	0.52667	CAP domain (3);	0.054392	0.85682	D	0.000000	T	0.28896	0.0717	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01440	-1.1354	10	0.36615	T	0.2	.	14.0855	0.64954	0.0723:0.0:0.9277:0.0	.	121	Q9H336	CRLD1_HUMAN	V	121	ENSP00000262207:G121V	ENSP00000262207:G121V	G	+	2	0	CRISPLD1	76087326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.365000	0.79537	1.454000	0.47793	0.557000	0.71058	GGA	CRISPLD1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000121005		0.383	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	-	0	41	0	G	NM_031461		75924771	1	tier1	-	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	T	T	75924771	G	T	75924771	3	4	57	1	0	0	0	0	1	0	0	0	3889	1174	41	3	368	3	CRISPLD1	8	75924771	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2940766	75924771	70439251	188	14186											
TMEM67	91147	genome.wustl.edu	37	chr8	94794645	94794645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagacacagagacaaGgctaaatgctgcttattcat	13	11	8	9	0	1	2	1	0	0	2	2	3	2	2	1	1	2	3	1	1	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:94794645G>T	ENST00000453321.3	+	11	1146	c.1088G>T	c.(1087-1089)aGg>aTg	p.R363M	TMEM67_ENST00000409623.3_Missense_Mutation_p.R282M|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	363					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ACAGAGACAAGGCTAAATGCT	0.318																																																	0													101	100	101					8																	94794645		2203	4300	6503	SO:0001583	missense	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.1088G>T	8.37:g.94794645G>T	ENSP00000389998:p.Arg363Met		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.R363M	ENST00000453321.3	37	c.1088	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669693	0.67814	.	.	ENSG00000164953	ENST00000452276;ENST00000453321;ENST00000409623	D;D;D	0.97138	-4.26;-4.26;-4.26	5.17	5.17	0.71159	.	0.113488	0.64402	D	0.000005	D	0.97673	0.9237	M	0.68952	2.095	0.54753	D	0.999982	D;D	0.71674	0.998;0.96	D;P	0.65323	0.934;0.812	D	0.97967	1.0341	10	0.87932	D	0	-18.3448	12.5271	0.56093	0.0871:0.0:0.9129:0.0	.	363;282	Q5HYA8;G5E9H2	MKS3_HUMAN;.	M	260;363;282	ENSP00000388671:R260M;ENSP00000389998:R363M;ENSP00000386966:R282M	ENSP00000314488:R353M	R	+	2	0	TMEM67	94863821	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	3.404000	0.52623	2.409000	0.81822	0.555000	0.69702	AGG	TMEM67	-	pfam_Meckelin	ENSG00000164953		0.318	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	-	0	44	0	G	NM_153704		94794645	1	tier1	-	no_errors	ENST00000453321	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.998	T	T	94794645	G	T	94794645	3	4	57	1	0	0	0	0	1	0	0	0	16243	1000	35	3	1268	3	TMEM67	8	94794645	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	18869874	94794645	51569377	189	14187											
ESRP1	54845	genome.wustl.edu	37	chr8	95690544	95690544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcactgcagccctccacaGcgtactacccagcaggcact	10	5	9	17	1	0	0	0	0	0	0	1	1	1	0	3	1	7	5	3	1	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:95690544G>A	ENST00000433389.2	+	13	1955	c.1765G>A	c.(1765-1767)Gcg>Acg	p.A589T	ESRP1_ENST00000454170.2_Missense_Mutation_p.A589T|ESRP1_ENST00000358397.5_Missense_Mutation_p.A585T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A585T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	589					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GCCCTCCACAGCGTACTACCC	0.512																																																	0													95	92	93					8																	95690544		2048	4215	6263	SO:0001583	missense	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"RNA binding motif (RRM) containing"	25966	protein-coding gene	gene with protein product		612959	"RNA binding motif protein 35A"	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1765G>A	8.37:g.95690544G>A	ENSP00000405738:p.Ala589Thr		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.A589T	ENST00000433389.2	37	c.1765	CCDS47897.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.86|13.86	2.363259|2.363259	0.41902|0.41902	.|.	.|.	ENSG00000104413|ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610|ENST00000519505	T;T;T;T;T|.	0.13196|.	2.84;2.81;2.82;2.74;2.61|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.149772|.	0.64402|.	D|.	0.000013|.	T|T	0.57242|0.57242	0.2040|0.2040	N|N	0.25890|0.25890	0.77|0.77	0.42186|0.42186	D|D	0.991705|0.991705	P;B;B;B;B;B|.	0.36990|.	0.577;0.123;0.079;0.026;0.073;0.044|.	B;B;B;B;B;B|.	0.37091|.	0.241;0.108;0.076;0.015;0.075;0.034|.	T|T	0.51631|0.51631	-0.8681|-0.8681	10|5	0.44086|.	T|.	0.13|.	-13.3779|-13.3779	19.4592|19.4592	0.94910|0.94910	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	589;589;589;585;585;589|.	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1|.	.;.;.;.;.;ESRP1_HUMAN|.	T|N	585;589;585;589;448|454	ENSP00000407349:A585T;ENSP00000405738:A589T;ENSP00000351168:A585T;ENSP00000402766:A589T;ENSP00000429125:A448T|.	ENSP00000351168:A585T|.	A|S	+|+	1|2	0|0	ESRP1|ESRP1	95759720|95759720	0.999000|0.999000	0.42202|0.42202	0.290000|0.290000	0.24890|0.24890	0.634000|0.634000	0.38068|0.38068	3.045000|3.045000	0.49838|0.49838	2.656000|2.656000	0.90262|0.90262	0.655000|0.655000	0.94253|0.94253	GCG|AGC	ESRP1	-	NULL	ENSG00000104413		0.512	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	-	0	93	0	G	NM_017697		95690544	1	tier1	-	no_errors	ENST00000433389	ensembl	human	known	74_37	missense	55.00	18	22	SNP	0.911	A	A	95690544	G	A	95690544	3	1	57	1	0	0	0	0	1	0	0	0	5274	971	34	3	1815	3	ESRP1	8	95690544	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	895899	95690544	50673478	190	14188											
VPS13B	157680	genome.wustl.edu	37	chr8	100729456	100729456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattttctccttaaaacaaGtctcaaagaaagaagccgca	16	9	6	10	2	2	2	1	0	2	2	4	3	2	2	2	0	2	1	2	0	6	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:100729456G>A	ENST00000358544.2	+	37	6698	c.6587G>A	c.(6586-6588)aGt>aAt	p.S2196N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S2171N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2196					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTAAAACAAGTCTCAAAGAA	0.383																																					Colon(161;2205 2542 7338 31318)												0													70	72	71					8																	100729456		2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6587G>A	8.37:g.100729456G>A	ENSP00000351346:p.Ser2196Asn		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S2196N	ENST00000358544.2	37	c.6587	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766874	0.49574	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.71222	-0.54;-0.55	5.27	5.27	0.74061	.	0.171402	0.50627	D	0.000112	T	0.68091	0.2963	L	0.40543	1.245	0.80722	D	1	B;B	0.34103	0.437;0.31	B;B	0.37888	0.26;0.1	T	0.68857	-0.5298	10	0.51188	T	0.08	.	19.2444	0.93896	0.0:0.0:1.0:0.0	.	2171;2196	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	N	2171;2196	ENSP00000349685:S2171N;ENSP00000351346:S2196N	ENSP00000349685:S2171N	S	+	2	0	VPS13B	100798632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.786000	0.91826	2.590000	0.87494	0.655000	0.94253	AGT	VPS13B	-	NULL	ENSG00000132549		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	42	0	G	NM_184042		100729456	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	11.71	98	13	SNP	1.000	A	A	100729456	G	A	100729456	3	1	57	1	0	0	0	0	1	0	0	0	17239	1029	36	3	6923	3	VPS13B	8	100729456	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5038912	100729456	45634566	191	14189											
FZD6	8323	genome.wustl.edu	37	chr8	104336798	104336798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacagaacaagtccaaaGagacattggattttggtgtc	16	9	10	6	0	0	2	0	0	0	2	2	5	1	3	1	2	2	0	1	2	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:104336798G>T	ENST00000358755.4	+	4	781	c.464G>T	c.(463-465)aGa>aTa	p.R155I	FZD6_ENST00000523739.1_Missense_Mutation_p.R123I|FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.R155I	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	155					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGTCCAAAGAGACATTGGA	0.423																																																	0													66	72	70					8																	104336798		2203	4300	6503	SO:0001583	missense	0			AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"GPCR / Class F : Frizzled receptors"	4044	protein-coding gene	gene with protein product		603409	"frizzled (Drosophila) homolog 6", "frizzled homolog 6 (Drosophila)", "frizzled 6, seven transmembrane spanning receptor", "frizzled family receptor 6"			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.464G>T	8.37:g.104336798G>T	ENSP00000351605:p.Arg155Ile		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R155I	ENST00000358755.4	37	c.464	CCDS6298.1	8	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537827	0.85917	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	T;T;T	0.78003	-1.11;-1.11;-1.14	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.64170	1.965	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;P;D	0.63793	0.899;0.905;0.918	T	0.82792	-0.0282	10	0.31617	T	0.26	.	20.0493	0.97618	0.0:0.0:1.0:0.0	.	100;155;155	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	I	155;155;123;100	ENSP00000429055:R155I;ENSP00000351605:R155I;ENSP00000429528:R123I	ENSP00000351605:R155I	R	+	2	0	FZD6	104405974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.745000	0.94114	0.491000	0.48974	AGA	FZD6	-	NULL	ENSG00000164930		0.423	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD6	HGNC	protein_coding	OTTHUMT00000380560.1	-	0	56	0	G	NM_003506		104336798	1	tier1	-	no_errors	ENST00000358755	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	104336798	G	T	104336798	3	4	57	1	0	0	0	0	1	0	0	0	6158	942	33	3	474	3	FZD6	8	104336798	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3607342	104336798	42027224	192	14190											
RIMS2	9699	genome.wustl.edu	37	chr8	104831755	104831755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaatttgagacattgcGccaggtctgcaattctgttt	10	14	9	8	1	2	1	0	1	2	1	2	2	2	1	1	1	3	3	1	1	3	4	rs377178152		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:104831755G>A	ENST00000507740.1	+	1	256	c.20G>A	c.(19-21)cGc>cAc	p.R7H	RIMS2_ENST00000262231.10_Missense_Mutation_p.R7H|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGACATTGCGCCAGGTCTGC	0.353										HNSCC(12;0.0054)																																							0								G	,HIS/ARG	1,3637		0,1,1818	119	116	117		,20	5.7	1	8		117	0,8168		0,0,4084	no	intron,missense	RIMS2	NM_001100117.2,NM_014677.4	,29	0,1,5902	AA,AG,GG		0.0,0.0275,0.0085	,	,7/1164	104831755	1,11805	1819	4084	5903	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.20G>A	8.37:g.104831755G>A	ENSP00000423559:p.Arg7His		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.R7H	ENST00000507740.1	37	c.20	CCDS43761.1	8	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152792	0.78001	2.75E-4	0.0	ENSG00000176406	ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894	T;T;T;T	0.22134	1.97;2.03;2.04;1.98	5.71	5.71	0.89125	.	.	.	.	.	T	0.30230	0.0758	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	T	0.41910	-0.9482	9	0.87932	D	0	.	19.8516	0.96743	0.0:0.0:1.0:0.0	.	7;7	Q9UQ26-1;Q9UQ26-3	.;.	H	7	ENSP00000425205:R7H;ENSP00000262231:R7H;ENSP00000423559:R7H;ENSP00000386228:R7H	ENSP00000262231:R7H	R	+	2	0	RIMS2	104900931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.334000	0.96470	2.685000	0.91497	0.585000	0.79938	CGC	RIMS2	-	NULL	ENSG00000176406		0.353	RIMS2-005	NOVEL	basic|CCDS	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367215.1	-	0	37	0	G	NM_001100117		104831755	1	tier1	-	no_errors	ENST00000262231	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A	A	104831755	G	A	104831755	3	1	57	1	0	0	0	0	1	0	0	0	13413	1087	38	1	732	1	RIMS2	8	104831755	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	494957	104831755	41532267	193	14191											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110457250	110457250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaaacatcccctgctGcccaacagcttgtggatgta	11	10	9	11	0	0	1	0	1	0	0	1	2	1	2	3	1	5	3	3	1	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110457250G>T	ENST00000378402.5	+	38	5256	c.5152G>T	c.(5152-5154)Gcc>Tcc	p.A1718S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1718	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCCCCTGCTGCCCAACAGCT	0.443										HNSCC(38;0.096)																																							0													201	194	196					8																	110457250		1918	4130	6048	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5152G>T	8.37:g.110457250G>T	ENSP00000367655:p.Ala1718Ser		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.A1718S	ENST00000378402.5	37	c.5152	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898770	0.02472	.	.	ENSG00000205038	ENST00000378402	T	0.76186	-1.0	6.17	3.45	0.39498	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.560686	0.18974	N	0.126079	T	0.46600	0.1401	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34054	-0.9844	10	0.05959	T	0.93	.	2.9744	0.05933	0.1417:0.5556:0.1485:0.1542	.	1718	Q86WI1	PKHL1_HUMAN	S	1718	ENSP00000367655:A1718S	ENSP00000367655:A1718S	A	+	1	0	PKHD1L1	110526426	0.000000	0.05858	0.358000	0.25811	0.375000	0.29983	-0.201000	0.09464	0.493000	0.27837	-0.165000	0.13383	GCC	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	40	0	G	NM_177531		110457250	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.004	T	T	110457250	G	T	110457250	3	4	57	1	0	0	0	0	1	0	0	0	12011	1319	46	3	5302	3	PKHD1L1	8	110457250	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5625495	110457250	35906772	194	14192											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110503297	110503297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagatggattggacataGatgacaacatcattcacttt	14	11	9	7	0	2	3	2	1	0	2	2	6	2	6	0	3	1	0	0	3	2	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110503297G>T	ENST00000378402.5	+	61	10185	c.10081G>T	c.(10081-10083)Gat>Tat	p.D3361Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3361					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTGGACATAGATGACAACAT	0.378										HNSCC(38;0.096)																																							0													140	133	135					8																	110503297		1896	4115	6011	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10081G>T	8.37:g.110503297G>T	ENSP00000367655:p.Asp3361Tyr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.D3361Y	ENST00000378402.5	37	c.10081	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579653	0.86645	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	T;T	0.80824	-1.42;-1.42	5.41	5.41	0.78517	Pectin lyase fold/virulence factor (1);	0.112616	0.64402	D	0.000018	T	0.82226	0.4991	M	0.74881	2.28	0.49915	D	0.999833	B	0.27013	0.166	B	0.30782	0.12	T	0.81745	-0.0792	10	0.87932	D	0	.	17.0417	0.86491	0.0:0.0:1.0:0.0	.	3361	Q86WI1	PKHL1_HUMAN	Y	3361;289	ENSP00000367655:D3361Y;ENSP00000437376:D289Y	ENSP00000367655:D3361Y	D	+	1	0	PKHD1L1	110572473	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.076000	0.89503	2.701000	0.92244	0.563000	0.77884	GAT	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000205038		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	37	0	G	NM_177531		110503297	1			no_errors	ENST00000378402	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	110503297	G	T	110503297	3	4	57	1	0	0	0	0	1	0	0	0	12011	942	33	3	10323	3	PKHD1L1	8	110503297	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	46047	110503297	35860725	195	14193											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110516714	110516714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttatacataggcctGatataaggtaaaatacataa	20	12	5	4	0	0	1	0	1	0	0	0	1	0	1	1	2	2	1	1	2	11	10			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110516714G>T	ENST00000378402.5	+	68	11091	c.10987G>T	c.(10987-10989)Gat>Tat	p.D3663Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3663					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACATAGGCCTGATATAAGGTA	0.303										HNSCC(38;0.096)																																							0													29	27	27					8																	110516714		1789	4044	5833	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10987G>T	8.37:g.110516714G>T	ENSP00000367655:p.Asp3663Tyr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.D3663Y	ENST00000378402.5	37	c.10987	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338304	0.81911	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.86769	-2.17;-1.99	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	M	0.69823	2.125	0.49051	D	0.999748	P	0.51933	0.949	P	0.56343	0.796	D	0.92223	0.5786	10	0.72032	D	0.01	.	16.9861	0.86340	0.0:0.0:1.0:0.0	.	3663	Q86WI1	PKHL1_HUMAN	Y	3663;591	ENSP00000367655:D3663Y;ENSP00000437376:D591Y	ENSP00000367655:D3663Y	D	+	1	0	PKHD1L1	110585890	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.113000	0.71553	2.607000	0.88179	0.650000	0.86243	GAT	PKHD1L1	-	NULL	ENSG00000205038		0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	48	0	G	NM_177531		110516714	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	T	T	110516714	G	T	110516714	3	4	57	1	0	0	0	0	1	0	0	0	12011	1290	45	3	11257	3	PKHD1L1	8	110516714	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13417	110516714	35847308	196	14194											
KCNV1	27012	genome.wustl.edu	37	chr8	110986369	110986369	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctccagagggctgggcacGgcggccagggccccggggcg	5	2	20	14	4	0	1	0	0	0	1	1	1	1	1	4	7	1	3	4	7	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110986369G>T	ENST00000524391.1	-	2	1281	c.249C>A	c.(247-249)gcC>gcA	p.A83A	KCNV1_ENST00000297404.1_Silent_p.A83A|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGCTGGGCACGGCGGCCAGGG	0.672																																																	0													21	20	20					8																	110986369		2199	4297	6496	SO:0001819	synonymous_variant	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.249C>A	8.37:g.110986369G>T			Q9UHJ4	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.A83	ENST00000524391.1	37	c.249	CCDS6314.1	8																																																																																			KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000164794		0.672	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0	103	0	G	NM_014379		110986369	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.925	T	T	110986369	G	T	110986369	2	4	57	1	0	0	0	0	0	0	0	1	8121	1103	39	2		2	KCNV1	8	110986369	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	469655	110986369	35377653	197	14195											
KCNV1	27012	genome.wustl.edu	37	chr8	110986411	110986411	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtaggaagccaccaccacGgccagcttgccaaggcgcgt	9	4	13	15	4	0	0	0	0	0	0	0	1	0	1	5	4	3	2	5	4	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:110986411G>T	ENST00000524391.1	-	2	1239	c.207C>A	c.(205-207)gcC>gcA	p.A69A	KCNV1_ENST00000297404.1_Silent_p.A69A|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	69					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCACCACCACGGCCAGCTTGC	0.697																																																	0													13	13	13					8																	110986411		2190	4284	6474	SO:0001819	synonymous_variant	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.207C>A	8.37:g.110986411G>T			Q9UHJ4	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.A69	ENST00000524391.1	37	c.207	CCDS6314.1	8																																																																																			KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9	ENSG00000164794		0.697	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0	72	0	G	NM_014379		110986411	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.996	T	T	110986411	G	T	110986411	2	4	57	1	0	0	0	0	0	0	0	1	8121	1103	39	2		2	KCNV1	8	110986411	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	42	110986411	35377611	198	14196											
TAF2	6873	genome.wustl.edu	37	chr8	120801935	120801935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgactccacatatgtgactGgaacttctgagatgaagcag	12	10	10	9	0	1	4	0	4	1	1	2	6	2	5	1	1	2	1	1	1	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:120801935G>T	ENST00000378164.2	-	12	1763	c.1465C>A	c.(1465-1467)Cag>Aag	p.Q489K		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	489					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATATGTGACTGGAACTTCTGA	0.353																																																	0													74	75	75					8																	120801935		2203	4300	6503	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1465C>A	8.37:g.120801935G>T	ENSP00000367406:p.Gln489Lys		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.Q489K	ENST00000378164.2	37	c.1465	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	G	13.23	2.176431	0.38413	.	.	ENSG00000064313	ENST00000378164	T	0.37915	1.17	5.88	5.0	0.66597	.	0.117279	0.64402	D	0.000010	T	0.22666	0.0547	N	0.22421	0.69	0.80722	D	1	B	0.26318	0.146	B	0.22601	0.04	T	0.04885	-1.0920	10	0.06236	T	0.91	-32.4589	14.8825	0.70545	0.0688:0.0:0.9312:0.0	.	489	Q6P1X5	TAF2_HUMAN	K	489	ENSP00000367406:Q489K	ENSP00000367406:Q489K	Q	-	1	0	TAF2	120871116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.477000	0.48234	0.655000	0.94253	CAG	TAF2	-	NULL	ENSG00000064313		0.353	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0	41	0	G	NM_003184		120801935	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	120801935	G	T	120801935	3	4	57	1	0	0	0	0	1	0	0	0	15571	1357	47	3	2194	3	TAF2	8	120801935	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9815524	120801935	25562087	199	14197											
MRPL13	28998	genome.wustl.edu	37	chr8	121426269	121426269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtctatttcttcttgtGtgtactcatctagacgttta	7	18	8	8	2	5	1	1	0	4	1	5	1	5	1	0	1	1	2	0	1	4	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:121426269G>T	ENST00000306185.3	-	6	767	c.476C>A	c.(475-477)aCa>aAa	p.T159K		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	159					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTCTTCTTGTGTGTACTCATC	0.343																																																	0													171	161	164					8																	121426269		2203	4300	6503	SO:0001583	missense	0			AB049640	CCDS6332.1	8q22.1-q22.3	2012-09-13			ENSG00000172172	ENSG00000172172		"Mitochondrial ribosomal proteins / large subunits"	14278	protein-coding gene	gene with protein product		610200				11543634	Standard	NM_014078		Approved	L13, RPL13, L13mt, RPML13, L13A	uc003ypa.3	Q9BYD1	OTTHUMG00000165039	ENST00000306185.3:c.476C>A	8.37:g.121426269G>T	ENSP00000306548:p.Thr159Lys		B2R4R8|Q9UI04	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13,tigrfam_Ribosomal_L13_bac-type	p.T159K	ENST00000306185.3	37	c.476	CCDS6332.1	8	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029972	0.75504	.	.	ENSG00000172172	ENST00000306185;ENST00000518918	.	.	.	6.16	5.29	0.74685	Ribosomal protein L13 domain (1);	0.087238	0.85682	D	0.000000	T	0.60011	0.2236	M	0.83603	2.65	0.53688	D	0.999977	P	0.44429	0.835	B	0.38378	0.272	T	0.67872	-0.5558	9	0.66056	D	0.02	-6.2535	12.5407	0.56167	0.077:0.0:0.923:0.0	.	159	Q9BYD1	RM13_HUMAN	K	159;135	.	ENSP00000306548:T159K	T	-	2	0	MRPL13	121495450	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.562000	0.60816	1.626000	0.50381	0.650000	0.86243	ACA	MRPL13	-	superfamily_Ribosomal_L13_dom,pirsf_Ribosomal_L13	ENSG00000172172		0.343	MRPL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL13	HGNC	protein_coding	OTTHUMT00000381523.1		0	39	0	G	NM_014078		121426269	-1			no_errors	ENST00000306185	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	T	T	121426269	G	T	121426269	3	4	57	1	0	0	0	0	1	0	0	0	9816	1377	48	3	68	3	MRPL13	8	121426269	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	624334	121426269	24937753	200	14198											
ASAP1	50807	genome.wustl.edu	37	chr8	131191524	131191524	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actcacttgcactgtgcatgGtaatactttataagattctg	11	15	7	8	0	2	1	1	0	1	1	2	1	2	1	0	1	3	3	0	1	4	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:131191524G>T	ENST00000518721.1	-	9	959	c.732C>A	c.(730-732)taC>taA	p.Y244*	ASAP1_ENST00000357668.1_Nonsense_Mutation_p.Y244*	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	244					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTGTGCATGGTAATACTTTA	0.353																																																	0													168	153	158					8																	131191524		2203	4300	6503	SO:0001587	stop_gained	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.732C>A	8.37:g.131191524G>T	ENSP00000429900:p.Tyr244*		B2RNV3	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.Y244*	ENST00000518721.1	37	c.732	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	35|35	5.579831|5.579831	0.96565|0.96565	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|.	.|.	.|.	5.78|5.78	-4.54|-4.54	0.03452|0.03452	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.29190|.	0.0726|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41822|.	-0.9487|.	3|.	.|0.02654	.|T	.|1	.|.	15.5878|15.5878	0.76499|0.76499	0.4339:0.0:0.5661:0.0|0.4339:0.0:0.5661:0.0	.|.	.|.	.|.	.|.	T|X	62|244;244;244;214	.|.	.|ENSP00000344591:Y244X	P|Y	-|-	1|3	0|2	ASAP1|ASAP1	131260706|131260706	0.985000|0.985000	0.35326|0.35326	0.969000|0.969000	0.41365|0.41365	0.994000|0.994000	0.84299|0.84299	0.222000|0.222000	0.17699|0.17699	-0.726000|-0.726000	0.04895|0.04895	-0.334000|-0.334000	0.08254|0.08254	CCA|TAC	ASAP1	-	NULL	ENSG00000153317		0.353	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1		0	63	0	G	NM_018482		131191524	-1			no_errors	ENST00000357668	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.787	T	T	131191524	G	T	131191524	4	4	57	1	0	0	0	0	0	1	0	0	1011	1256	44	3	2745	3	ASAP1	8	131191524	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9765255	131191524	15172498	201	14199											
ADCK5	203054	genome.wustl.edu	37	chr8	145603116	145603116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctctgctgcacagaaGgcagaagccctggccgtccc	7	7	11	16	1	2	2	0	0	2	2	3	2	3	2	3	2	4	4	3	2	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr8:145603116G>T	ENST00000308860.6	+	2	97	c.53G>T	c.(52-54)aGg>aTg	p.R18M	ADCK5_ENST00000532190.1_Missense_Mutation_p.R18M|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	18						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGCACAGAAGGCAGAAGCCC	0.602																																																	0													65	55	59					8																	145603116		2202	4300	6502	SO:0001583	missense	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.53G>T	8.37:g.145603116G>T	ENSP00000310547:p.Arg18Met		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.R18M	ENST00000308860.6	37	c.53	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594543	0.28445	.	.	ENSG00000173137	ENST00000308860;ENST00000532190	T;T	0.75938	-0.98;0.75	4.55	0.693	0.18056	.	1.232310	0.06155	N	0.674901	T	0.66790	0.2825	L	0.51422	1.61	0.09310	N	1	P	0.38642	0.641	B	0.38500	0.275	T	0.54977	-0.8212	10	0.48119	T	0.1	-9.2594	3.6831	0.08317	0.3144:0.1882:0.4974:0.0	.	18	Q3MIX3	ADCK5_HUMAN	M	18	ENSP00000310547:R18M;ENSP00000435155:R18M	ENSP00000310547:R18M	R	+	2	0	ADCK5	145573924	0.000000	0.05858	0.000000	0.03702	0.537000	0.34900	0.419000	0.21247	0.054000	0.16065	0.563000	0.77884	AGG	ADCK5	-	NULL	ENSG00000173137		0.602	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	-	0	41	0	G	NM_174922		145603116	1	tier1	-	no_errors	ENST00000308860	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.000	T	T	145603116	G	T	145603116	3	4	57	1	0	0	0	0	1	0	0	0	291	1000	35	3	59	3	ADCK5	8	145603116	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	14411592	145603116	760906	202	14200											
PTPRD	5789	genome.wustl.edu	37	chr9	8507340	8507340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtagaccagttcataGttggcaatggtatctgaacg	10	14	10	7	1	3	2	1	1	2	1	3	2	3	2	1	2	1	5	1	2	5	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:8507340G>T	ENST00000381196.4	-	19	2181	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	PTPRD_ENST00000397606.3_Missense_Mutation_p.N536K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N533K|PTPRD_ENST00000358503.5_Missense_Mutation_p.N533K|PTPRD_ENST00000540109.1_Missense_Mutation_p.N546K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N546K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N536K|PTPRD_ENST00000355233.5_Missense_Mutation_p.N546K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N543K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N543K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N546K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	546	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAGTTCATAGTTGGCAATGG	0.433										TSP Lung(15;0.13)																																							0													216	190	199					9																	8507340		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1638C>A	9.37:g.8507340G>T	ENSP00000370593:p.Asn546Lys		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.N546K	ENST00000381196.4	37	c.1638	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	3.906	-0.021130	0.07634	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.321942	0.42053	D	0.000763	T	0.32823	0.0842	N	0.02286	-0.61	0.41099	D	0.985656	B;B;B;B;B;B;B;B;B	0.22211	0.0;0.001;0.001;0.001;0.0;0.0;0.002;0.066;0.003	B;B;B;B;B;B;B;B;B	0.29440	0.004;0.006;0.01;0.021;0.001;0.003;0.007;0.102;0.033	T	0.27839	-1.0062	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	536;540;546;546;543;543;533;546;546	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	546;546;533;533;546;536;543;543;546;546;546;536	ENSP00000370593:N546K;ENSP00000348812:N546K;ENSP00000353187:N533K;ENSP00000351293:N533K;ENSP00000347373:N546K;ENSP00000380741:N536K;ENSP00000380735:N543K;ENSP00000440515:N543K;ENSP00000438164:N546K;ENSP00000417093:N546K;ENSP00000380731:N536K	.	N	-	3	2	PTPRD	8497340	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	3.399000	0.52586	2.880000	0.98712	0.650000	0.86243	AAC	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.433	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	85	0	G			8507340	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	8507340	G	T	8507340	3	4	57	1	0	0	0	0	1	0	0	0	12844	1020	36	3	4268	3	PTPRD	9	8507340	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		8507340	132706091	203	14201											
FAM154A	158297	genome.wustl.edu	37	chr9	18928737	18928737	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttggcaggctcccccatcagGccccggtaggattgtttttg	5	12	12	12	1	1	0	1	0	0	0	2	1	2	1	4	5	0	4	4	5	1	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:18928737G>T	ENST00000380534.4	-	4	1017	c.738C>A	c.(736-738)ggC>ggA	p.G246G	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Silent_p.G54G	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	246										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCCCCATCAGGCCCCGGTAGG	0.532																																																	0													59	66	63					9																	18928737		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 138"	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.738C>A	9.37:g.18928737G>T			Q5VY58	Silent	SNP	NULL	p.G246	ENST00000380534.4	37	c.738	CCDS6487.1	9																																																																																			FAM154A	-	NULL	ENSG00000155875		0.532	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1		0	88	0	G	NM_153707		18928737	-1			no_errors	ENST00000380534	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.986	T	T	18928737	G	T	18928737	2	4	57	1	0	0	0	0	0	0	0	1	5482	1190	42	3		3	FAM154A	9	18928737	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	10421397	18928737	122284694	204	14202											
ACO1	48	genome.wustl.edu	37	chr9	32434696	32434696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgctacttaactaacaGagggtaagtatgaatgaggc	13	10	11	7	1	0	3	0	2	0	1	1	3	0	3	0	2	4	4	0	2	6	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:32434696G>T	ENST00000309951.6	+	17	2234	c.2096G>T	c.(2095-2097)aGa>aTa	p.R699I	ACO1_ENST00000541043.1_Missense_Mutation_p.R600I|ACO1_ENST00000379923.1_Missense_Mutation_p.R699I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	699					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTAACTAACAGAGGGTAAGTA	0.448																																																	0													84	80	82					9																	32434696		2203	4300	6503	SO:0001583	missense	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"aconitate hydratase, cytoplasmic"	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2096G>T	9.37:g.32434696G>T	ENSP00000309477:p.Arg699Ile		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.R699I	ENST00000309951.6	37	c.2096	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637659	0.87760	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.37915	1.17;1.17;2.18	5.93	5.93	0.95920	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	M	0.91717	3.235	0.80722	D	1	P;P	0.47962	0.903;0.598	P;B	0.44772	0.46;0.286	T	0.68062	-0.5508	10	0.87932	D	0	-4.5472	19.1254	0.93380	0.0:0.0:1.0:0.0	.	735;699	Q59FI0;P21399	.;ACOC_HUMAN	I	735;699;699;600	ENSP00000309477:R699I;ENSP00000369255:R699I;ENSP00000438733:R600I	ENSP00000309477:R699I	R	+	2	0	ACO1	32424696	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.171000	0.58236	2.826000	0.97356	0.655000	0.94253	AGA	ACO1	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.448	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	-	0	47	0	G	NM_002197		32434696	1	tier1	-	no_errors	ENST00000309951	ensembl	human	known	74_37	missense	5.49	86	5	SNP	1.000	T	T	32434696	G	T	32434696	3	4	57	1	0	0	0	0	1	0	0	0	146	942	33	3	2158	3	ACO1	9	32434696	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13505959	32434696	108778735	205	14203											
DDX58	23586	genome.wustl.edu	37	chr9	32467918	32467918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatatacacttctgtgccGggagggtcattcctgtgtca	8	12	10	11	1	3	0	2	0	1	0	4	1	4	1	3	2	2	0	3	2	3	4	rs374942642		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:32467918G>T	ENST00000379883.2	-	15	2184	c.2027C>A	c.(2026-2028)cCg>cAg	p.P676Q	DDX58_ENST00000379882.1_Missense_Mutation_p.P631Q|DDX58_ENST00000379868.1_Missense_Mutation_p.P473Q|DDX58_ENST00000542096.1_Missense_Mutation_p.P605Q|DDX58_ENST00000545044.1_Missense_Mutation_p.P473Q	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	676	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CTTCTGTGCCGGGAGGGTCAT	0.438																																																	0													116	108	111					9																	32467918		2203	4300	6503	SO:0001583	missense	0			AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"DEAD-boxes"	19102	protein-coding gene	gene with protein product	"RNA helicase RIG-I", "retinoic acid inducible gene I"	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2027C>A	9.37:g.32467918G>T	ENSP00000369213:p.Pro676Gln		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P676Q	ENST00000379883.2	37	c.2027	CCDS6526.1	9	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597196	0.46318	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83	5.11	4.22	0.49857	Helicase, C-terminal (3);	0.309228	0.30791	N	0.008864	T	0.67785	0.2930	N	0.04320	-0.23	0.39397	D	0.966517	D;B;B;D	0.67145	0.99;0.076;0.242;0.996	P;B;B;D	0.63957	0.717;0.04;0.109;0.92	T	0.70644	-0.4815	10	0.30854	T	0.27	-9.9981	12.915	0.58200	0.0804:0.0:0.9196:0.0	.	473;631;605;676	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	Q	631;676;473;605;473	ENSP00000369212:P631Q;ENSP00000369213:P676Q;ENSP00000369197:P473Q;ENSP00000442160:P605Q;ENSP00000443055:P473Q	ENSP00000369197:P473Q	P	-	2	0	DDX58	32457918	1.000000	0.71417	0.999000	0.59377	0.552000	0.35366	3.022000	0.49659	1.292000	0.44672	0.655000	0.94253	CCG	DDX58	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000107201		0.438	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX58	HGNC	protein_coding	OTTHUMT00000052011.1	-	0	69	0	G	NM_014314		32467918	-1	tier1	-	no_errors	ENST00000379883	ensembl	human	known	74_37	missense	5.10	93	5	SNP	0.999	T	T	32467918	G	T	32467918	3	4	57	1	0	0	0	0	1	0	0	0	4384	1116	39	2	766	2	DDX58	9	32467918	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	33222	32467918	108745513	206	14204											
FOXD4L3	286380	genome.wustl.edu	37	chr9	70918542	70918542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctctacctgctgcacaCgccgccctgcacaacccccg	6	7	6	22	3	1	0	0	0	1	0	2	0	2	0	6	0	5	3	6	0	2	2	rs10781365		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:70918542C>G	ENST00000342833.2	+	1	1267	c.675C>G	c.(673-675)caC>caG	p.H225Q		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	225						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CTGCTGCACACGCCGCCCTGC	0.716																																																	0													1	1	1					9																	70918542		37	107	144	SO:0001583	missense	0			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.675C>G	9.37:g.70918542C>G	ENSP00000341961:p.His225Gln		Q5JTX9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.H225Q	ENST00000342833.2	37	c.675	CCDS43833.1	9	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.149614	0.01714	.	.	ENSG00000187559	ENST00000342833	D	0.94000	-3.33	3.35	1.2	0.21068	.	.	.	.	.	D	0.84606	0.5509	N	0.24115	0.695	0.09310	N	1	B	0.23854	0.092	B	0.21708	0.036	T	0.71537	-0.4563	9	0.25751	T	0.34	.	3.502	0.07676	0.0:0.528:0.2143:0.2577	.	225	Q6VB84	FX4L3_HUMAN	Q	225	ENSP00000341961:H225Q	ENSP00000341961:H225Q	H	+	3	2	FOXD4L3	70108362	0.000000	0.05858	0.025000	0.17156	0.032000	0.12392	-1.186000	0.03070	0.508000	0.28173	-0.680000	0.03767	CAC	FOXD4L3	-	NULL	ENSG00000187559		0.716	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	HGNC	protein_coding	OTTHUMT00000052539.2	-	0	9	0	C	NM_199358		70918542	1	tier1	-	no_errors	ENST00000342833	ensembl	human	known	74_37	missense	80.00	1	4	SNP	0.009	G	G	70918542	C	G	70918542	3	3	57	1	0	0	0	0	1	0	0	0	6024	535	19	5	677	5	FOXD4L3	9	70918542	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	38450624	70918542	70294889	207	14205											
WNK2	65268	genome.wustl.edu	37	chr9	96051087	96051087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattcagcgccctataaaGaccagctgtcctcgaaggaa	13	8	9	11	2	1	2	1	0	0	2	3	4	2	3	3	1	2	1	3	1	6	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:96051087G>T	ENST00000297954.4	+	20	4162	c.4162G>T	c.(4162-4164)Gac>Tac	p.D1388Y	WNK2_ENST00000349097.3_Missense_Mutation_p.D1000Y|WNK2_ENST00000427277.2_Missense_Mutation_p.D963Y|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.D1351Y|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1388					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCCTATAAAGACCAGCTGTC	0.542																																																	0													15	15	15					9																	96051087		2186	4255	6441	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4162G>T	9.37:g.96051087G>T	ENSP00000297954:p.Asp1388Tyr		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D1388Y	ENST00000297954.4	37	c.4162		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.08|19.08|19.08	3.758258|3.758258|3.758258	0.69763|0.69763|0.69763	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251|ENST00000411624	T;T;T;T|T;T|.	0.38887|0.33865|.	1.11;1.11;1.11;1.11|1.39;1.39|.	5.83|5.83|5.83	4.92|4.92|4.92	0.64577|0.64577|0.64577	.|.|.	0.313994|.|.	0.32719|.|.	N|.|.	0.005731|.|.	T|T|T	0.69424|0.69424|0.69424	0.3109|0.3109|0.3109	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P;D;D|.|.	0.89917|.|.	0.999;0.89;1.0;1.0|.|.	D;B;D;D|.|.	0.87578|.|.	0.979;0.286;0.998;0.998|.|.	T|T|T	0.68443|0.68443|0.68443	-0.5407|-0.5407|-0.5407	10|7|5	0.52906|0.17369|.	T|T|.	0.07|0.5|.	.|.|.	13.3178|13.3178|13.3178	0.60417|0.60417|0.60417	0.0:0.0:0.8416:0.1584|0.0:0.0:0.8416:0.1584|0.0:0.0:0.8416:0.1584	.|.|.	1351;954;1351;1388|.|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;WNK2_HUMAN|.|.	Y|N|I	1388;1351;1000;963|1346;147|954	ENSP00000297954:D1388Y;ENSP00000378860:D1351Y;ENSP00000297876:D1000Y;ENSP00000411181:D963Y|ENSP00000415038:K1346N;ENSP00000390441:K147N|.	ENSP00000297954:D1388Y|ENSP00000415038:K1346N|.	D|K|R	+|+|+	1|3|2	0|2|0	WNK2|WNK2|WNK2	95090908|95090908|95090908	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.899000|0.899000|0.899000	0.35326|0.35326|0.35326	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	5.058000|5.058000|5.058000	0.64300|0.64300|0.64300	1.450000|1.450000|1.450000	0.47717|0.47717|0.47717	0.555000|0.555000|0.555000	0.69702|0.69702|0.69702	GAC|AAG|AGA	WNK2	-	NULL	ENSG00000165238		0.542	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0	39	0	G	NM_006648		96051087	1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.983	T	T	96051087	G	T	96051087	3	4	57	1	0	0	0	0	1	0	0	0	17427	942	33	3	4125	3	WNK2	9	96051087	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	25132545	96051087	45162344	208	14206											
ABCA1	19	genome.wustl.edu	37	chr9	107555071	107555071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtactctctcaccttcGtcaactccttgatttctaag	8	15	4	14	1	4	1	2	1	2	0	7	1	5	1	3	0	2	1	3	0	3	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:107555071G>A	ENST00000374736.3	-	42	6147	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1918	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TCTCACCTTCGTCAACTCCTT	0.418																																																	0													138	121	127					9																	107555071		2203	4300	6503	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5753C>T	9.37:g.107555071G>A	ENSP00000363868:p.Thr1918Met		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1918M	ENST00000374736.3	37	c.5753	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846071	0.91277	.	.	ENSG00000165029	ENST00000374736	D	0.94232	-3.38	5.9	5.9	0.94986	ABC transporter-like (1);	0.093697	0.64402	D	0.000001	D	0.95348	0.8490	M	0.91561	3.22	0.80722	D	1	P	0.51653	0.947	B	0.43225	0.412	D	0.95911	0.8923	10	0.66056	D	0.02	.	19.8926	0.96935	0.0:0.0:1.0:0.0	.	1918	O95477	ABCA1_HUMAN	M	1918	ENSP00000363868:T1918M	ENSP00000363868:T1918M	T	-	2	0	ABCA1	106594892	1.000000	0.71417	0.977000	0.42913	0.922000	0.55478	7.754000	0.85163	2.806000	0.96561	0.655000	0.94253	ACG	ABCA1	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000165029		0.418	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0	64	0	G	NM_005502		107555071	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A	A	107555071	G	A	107555071	3	1	57	1	0	0	0	0	1	0	0	0	28	1145	40	1	1068	1	ABCA1	9	107555071	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11503984	107555071	33658360	209	14207											
FKTN	2218	genome.wustl.edu	37	chr9	108380327	108380327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacaaatctgatattatttTagcatttcaggatgcaggac	13	15	7	6	0	2	1	1	1	1	0	2	3	2	3	0	2	3	2	0	2	5	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:108380327T>C	ENST00000223528.2	+	8	1122	c.998T>C	c.(997-999)tTa>tCa	p.L333S	FKTN_ENST00000602661.1_Missense_Mutation_p.L333S|FKTN_ENST00000540160.1_Intron|FKTN_ENST00000357998.5_Missense_Mutation_p.L333S|FKTN_ENST00000448551.2_Missense_Mutation_p.L333S	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	333					muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GATATTATTTTAGCATTTCAG	0.333																																																	0													41	40	40					9																	108380327		2203	4299	6502	SO:0001583	missense	0				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.998T>C	9.37:g.108380327T>C	ENSP00000223528:p.Leu333Ser		B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Missense_Mutation	SNP	pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom	p.L333S	ENST00000223528.2	37	c.998	CCDS6766.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.929|5.929	0.355516|0.355516	0.11239|0.11239	.|.	.|.	ENSG00000106692|ENSG00000106692	ENST00000223528;ENST00000357998|ENST00000457847	D;D|.	0.90444|.	-2.39;-2.67|.	6.02|6.02	2.63|2.63	0.31362|0.31362	.|.	0.696087|.	0.14294|.	N|.	0.328723|.	T|.	0.13713|.	0.0332|.	N|N	0.00583|0.00583	-1.355|-1.355	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.06180|.	-1.0841|.	10|.	0.05351|.	T|.	0.99|.	-8.9101|-8.9101	8.3344|8.3344	0.32206|0.32206	0.0:0.7465:0.0:0.2535|0.0:0.7465:0.0:0.2535	.|.	333;333|.	B4DUX9;O75072|.	.;FKTN_HUMAN|.	S|Q	333|30	ENSP00000223528:L333S;ENSP00000350687:L333S|.	ENSP00000223528:L333S|.	L|X	+|+	2|1	0|0	FKTN|FKTN	107420148|107420148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.663000|1.663000	0.37429|0.37429	0.648000|0.648000	0.30732|0.30732	0.528000|0.528000	0.53228|0.53228	TTA|TAG	FKTN	-	pfam_LicD	ENSG00000106692		0.333	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKTN	HGNC	protein_coding	OTTHUMT00000053505.1	-	0	34	0	T	NM_006731		108380327	1	tier1	-	no_errors	ENST00000223528	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	C	C	108380327	T	C	108380327	3	2	57	1	0	0	0	0	1	0	0	0	5941	1764	61	4	1024	4	FKTN	9	108380327	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	825256	108380327	32833104	210	14208											
MUSK	4593	genome.wustl.edu	37	chr9	113562836	113562836	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtttgttcaccgagatttAgccaccaggaactgcctggt	10	11	10	10	1	1	1	1	0	0	1	1	3	1	2	4	2	3	2	4	2	3	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:113562836A>T	ENST00000374448.4	+	15	2312	c.2178A>T	c.(2176-2178)ttA>ttT	p.L726F	MUSK_ENST00000416899.2_Missense_Mutation_p.L718F|MUSK_ENST00000189978.5_Missense_Mutation_p.L726F	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCGAGATTTAGCCACCAGGA	0.542																																																	0													145	145	145					9																	113562836		1978	4161	6139	SO:0001583	missense	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2178A>T	9.37:g.113562836A>T	ENSP00000363571:p.Leu726Phe		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L726F	ENST00000374448.4	37	c.2178	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626624	0.66901	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.64991	-0.13	5.45	-5.43	0.02632	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.80813	0.4695	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84623	0.0685	10	0.87932	D	0	.	19.2359	0.93858	0.1826:0.0:0.8174:0.0	.	726	O15146	MUSK_HUMAN	F	732;726;726;640;640;724	ENSP00000363571:L726F	ENSP00000189978:L732F	L	+	3	2	MUSK	112602657	0.996000	0.38824	0.183000	0.23137	0.950000	0.60333	0.334000	0.19787	-0.957000	0.03627	-0.297000	0.09499	TTA	MUSK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000030304		0.542	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding			0	36	0	A			113562836	1			no_errors	ENST00000374448	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.868	T	T	113562836	A	T	113562836	3	4	57	1	0	0	0	0	1	0	0	0	10027	417	15	5	2268	5	MUSK	9	113562836	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	5182509	113562836	27650595	211	14209											
FKBP15	23307	genome.wustl.edu	37	chr9	115928423	115928423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggcgttgggggcgggcGtcccttcatgctctgataaa	7	9	16	9	3	2	1	1	1	1	0	3	1	3	1	1	5	1	2	1	5	3	3	rs372719818		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:115928423G>A	ENST00000238256.3	-	28	3712	c.3595C>T	c.(3595-3597)Cgc>Tgc	p.R1199C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1199					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGGGGCGGGCGTCCCTTCATG	0.512																																																	0								G	CYS/ARG	1,4001		0,1,2000	52	55	54		3595	5.7	1	9		54	0,8350		0,0,4175	no	missense	FKBP15	NM_015258.1	180	0,1,6175	AA,AG,GG		0.0,0.025,0.0081	probably-damaging	1199/1220	115928423	1,12351	2001	4175	6176	SO:0001583	missense	0			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23397	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 76", "WASP and FKBP-like protein"		"KIAA0674"	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.3595C>T	9.37:g.115928423G>A	ENSP00000238256:p.Arg1199Cys		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.R1199C	ENST00000238256.3	37	c.3595	CCDS48007.1	9	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443246	0.63067	2.5E-4	0.0	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.36157	1.27;1.29	5.7	5.7	0.88788	.	.	.	.	.	T	0.30572	0.0769	L	0.51422	1.61	0.47476	D	0.999435	B;B	0.32893	0.389;0.113	B;B	0.24269	0.052;0.013	T	0.15037	-1.0451	9	0.87932	D	0	-0.8148	10.7144	0.46005	0.0861:0.0:0.9139:0.0	.	780;1199	B4DVS2;Q5T1M5	.;FKB15_HUMAN	C	1224;1199	ENSP00000416158:R1224C;ENSP00000238256:R1199C	ENSP00000238256:R1199C	R	-	1	0	FKBP15	114968244	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.431000	0.52814	2.687000	0.91594	0.563000	0.77884	CGC	FKBP15	-	NULL	ENSG00000119321		0.512	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		-	0	55	0	G	NM_015258		115928423	-1	tier1	-	no_errors	ENST00000238256	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	A	A	115928423	G	A	115928423	3	1	57	1	0	0	0	0	1	0	0	0	5927	1145	40	1	68	1	FKBP15	9	115928423	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2365587	115928423	25285008	212	14210											
ASTN2	23245	genome.wustl.edu	37	chr9	119204756	119204756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgttgtcatctaccaGtggacaggccgtcctcaggg	6	11	12	12	1	3	0	2	0	1	0	4	1	4	1	4	3	2	1	4	3	1	3	rs151278272	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:119204756G>T	ENST00000313400.4	-	21	3674	c.3574C>A	c.(3574-3576)Ctg>Atg	p.L1192M	ASTN2_ENST00000288520.5_Missense_Mutation_p.L293M|ASTN2_ENST00000361477.3_Missense_Mutation_p.L244M|ASTN2_ENST00000373996.3_Missense_Mutation_p.L1188M|ASTN2_ENST00000341734.4_Missense_Mutation_p.L244M|ASTN2_ENST00000361209.2_Missense_Mutation_p.L1141M			O75129	ASTN2_HUMAN	astrotactin 2	1192					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.L1141L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCATCTACCAGTGGACAGGCC	0.498																																																	1	Substitution - coding silent(1)	large_intestine(1)						G	MET/LEU,MET/LEU,MET/LEU,MET/LEU,MET/LEU	0,4406		0,0,2203	210	176	188		730,3421,877,730,730	3.6	1	9	dbSNP_134	188	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense,missense,missense	ASTN2	NM_001184734.1,NM_014010.4,NM_198186.3,NM_198187.3,NM_198188.2	15,15,15,15,15	0,6,6497	TT,TG,GG		0.0698,0.0,0.0461	benign,benign,benign,benign,benign	244/376,1141/1289,293/441,244/403,244/396	119204756	6,13000	2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3574C>A	9.37:g.119204756G>T	ENSP00000314038:p.Leu1192Met		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.L1192M	ENST00000313400.4	37	c.3574		9	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099543	0.37048	0.0	6.98E-4	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477	T;T;T;T;T;T;T	0.15372	2.86;2.86;2.43;2.44;2.67;2.86;2.44	5.43	3.59	0.41128	.	0.141721	0.48286	D	0.000189	T	0.18383	0.0441	N	0.08118	0	0.42227	D	0.991871	B;B;B;B;D;B;B	0.64830	0.123;0.123;0.138;0.172;0.994;0.123;0.123	B;B;B;B;D;B;B	0.64877	0.018;0.032;0.013;0.031;0.93;0.032;0.047	T	0.10870	-1.0611	10	0.37606	T	0.19	-12.7114	11.4636	0.50225	0.1446:0.0:0.8554:0.0	.	244;244;1141;1192;1188;244;293	B7ZKP4;B7ZKP5;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;ASTN2_HUMAN;.;.;.	M	1192;1188;293;244;915;1141;244	ENSP00000314038:L1192M;ENSP00000363108:L1188M;ENSP00000288520:L293M;ENSP00000339925:L244M;ENSP00000363098:L915M;ENSP00000354504:L1141M;ENSP00000355116:L244M	ENSP00000288520:L293M	L	-	1	2	ASTN2	118244577	0.984000	0.35163	0.982000	0.44146	0.983000	0.72400	1.944000	0.40263	1.292000	0.44672	0.655000	0.94253	CTG	ASTN2	-	NULL	ENSG00000148219		0.498	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding			0	62	0	G	NM_014010		119204756	-1			no_errors	ENST00000313400	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.940	T	T	119204756	G	T	119204756	3	4	57	1	0	0	0	0	1	0	0	0	1066	1020	36	3	498	3	ASTN2	9	119204756	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3276333	119204756	22008675	213	14211											
NEK6	10783	genome.wustl.edu	37	chr9	127110081	127110081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgactaccccccactccccGgggagcactactccgagaag	9	5	10	17	2	0	2	0	1	0	1	2	4	2	3	6	2	3	1	6	2	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:127110081G>T	ENST00000320246.5	+	9	956	c.811G>T	c.(811-813)Ggg>Tgg	p.G271W	NEK6_ENST00000373603.1_Missense_Mutation_p.G271W|NEK6_ENST00000546191.1_Missense_Mutation_p.G271W|NEK6_ENST00000540326.1_Missense_Mutation_p.G289W|NEK6_ENST00000394199.2_Missense_Mutation_p.G305W|NEK6_ENST00000539416.1_Missense_Mutation_p.G296W|NEK6_ENST00000545174.1_Missense_Mutation_p.G271W|NEK6_ENST00000373600.3_Missense_Mutation_p.G305W|AL137846.1_ENST00000583657.1_RNA	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	271	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CCCACTCCCCGGGGAGCACTA	0.607																																					NSCLC(122;934 1785 18647 44295 45571)												0													104	109	107					9																	127110081		2203	4300	6503	SO:0001583	missense	0			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"putative serine-threonine protein kinase"	604884	"NIMA (never in mitosis gene a)-related kinase 6"			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.811G>T	9.37:g.127110081G>T	ENSP00000319734:p.Gly271Trp		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G305W	ENST00000320246.5	37	c.913	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751618	0.31046	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000394199;ENST00000546191;ENST00000539416	T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.03	3.18	0.36537	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.474452	0.23036	N	0.052678	T	0.10637	0.0260	N	0.13272	0.32	0.09310	N	1	D;D;D;D	0.63880	0.988;0.993;0.957;0.978	P;D;P;P	0.64506	0.85;0.926;0.856;0.85	T	0.09250	-1.0683	10	0.62326	D	0.03	.	5.697	0.17861	0.1592:0.0:0.6825:0.1583	.	296;305;271;289	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	W	271;289;305;271;203;271;305;271;296	ENSP00000362705:G271W;ENSP00000441469:G289W;ENSP00000362702:G305W;ENSP00000319734:G271W;ENSP00000442636:G271W;ENSP00000377749:G305W;ENSP00000441426:G271W;ENSP00000439651:G296W	ENSP00000319734:G271W	G	+	1	0	NEK6	126149902	0.592000	0.26832	0.023000	0.16930	0.048000	0.14542	1.386000	0.34419	0.704000	0.31869	0.655000	0.94253	GGG	NEK6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000119408		0.607	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1		0	52	0	G	NM_014397		127110081	1			no_errors	ENST00000373600	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.011	T	T	127110081	G	T	127110081	3	4	57	1	0	0	0	0	1	0	0	0	10367	1116	39	2	1026	2	NEK6	9	127110081	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7905325	127110081	14103350	214	14212											
RALGPS1	9649	genome.wustl.edu	37	chr9	129815214	129815214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggctgacaaaaacctGggctgtaagttaatctccct	11	11	8	11	0	2	1	1	1	1	0	3	1	2	1	2	2	1	4	2	2	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:129815214G>T	ENST00000259351.5	+	7	746	c.479G>T	c.(478-480)tGg>tTg	p.W160L	RALGPS1_ENST00000424082.2_Missense_Mutation_p.W160L|RALGPS1_ENST00000394022.3_Missense_Mutation_p.W160L|RALGPS1_ENST00000373434.1_Missense_Mutation_p.W160L|RALGPS1_ENST00000373436.1_Missense_Mutation_p.W160L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	160	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAAAAACCTGGGCTGTAAGT	0.393																																																	0													138	133	135					9																	129815214		2203	4300	6503	SO:0001583	missense	0			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"Pleckstrin homology (PH) domain containing"	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.479G>T	9.37:g.129815214G>T	ENSP00000259351:p.Trp160Leu		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.W160L	ENST00000259351.5	37	c.479	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997576	0.93227	.	.	ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000394022;ENST00000373439;ENST00000319107;ENST00000373436;ENST00000373434	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	6.02	6.02	0.97574	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.81322	0.4798	H	0.97732	4.065	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.86849	0.2022	10	0.72032	D	0.01	.	19.3122	0.94192	0.0:0.0:1.0:0.0	.	160;160;160;160	E9PBQ5;Q5JS13-3;Q5JS13-2;Q5JS13	.;.;.;RGPS1_HUMAN	L	160;160;160;160;130;160;160	ENSP00000259351:W160L;ENSP00000415630:W160L;ENSP00000377590:W160L;ENSP00000317149:W130L;ENSP00000362535:W160L;ENSP00000362533:W160L	ENSP00000259351:W160L	W	+	2	0	RALGPS1	128855035	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.405000	0.97313	2.865000	0.98341	0.655000	0.94253	TGG	RALGPS1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000136828		0.393	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	-	0	71	0	G	NM_014636		129815214	1	tier1	-	no_errors	ENST00000259351	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	129815214	G	T	129815214	3	4	57	1	0	0	0	0	1	0	0	0	13062	1357	47	3	501	3	RALGPS1	9	129815214	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2705133	129815214	11398217	215	14213											
GOLGA2	2801	genome.wustl.edu	37	chr9	131036245	131036245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctattcctctgctgatattCtctcaactgtggaaaagaag	11	13	8	9	0	3	2	1	1	2	1	5	3	4	3	1	1	2	2	1	1	6	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:131036245C>T	ENST00000421699.2	-	2	103	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	SWI5_ENST00000320188.5_5'Flank|SWI5_ENST00000608796.1_5'Flank|GOLGA2_ENST00000609374.1_Missense_Mutation_p.E19K|SWI5_ENST00000495313.1_5'Flank|GOLGA2_ENST00000490628.1_Missense_Mutation_p.E31K|SWI5_ENST00000419867.2_5'Flank|SWI5_ENST00000418976.1_5'Flank	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	31					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCTGATATTCTCTCAACTGT	0.388																																																	0													155	169	164					9																	131036245		2203	4300	6503	SO:0001583	missense	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"Golgi matrix protein GM130", "SY11 protein"	602580	"golgi autoantigen, golgin subfamily a, 2"			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.91G>A	9.37:g.131036245C>T	ENSP00000416097:p.Glu31Lys		Q6GRM9|Q9BRB0|Q9NYF9	Missense_Mutation	SNP	superfamily_CofA_tubulin-bd	p.E31K	ENST00000421699.2	37	c.91	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419665	0.42918	.	.	ENSG00000167110	ENST00000421699;ENST00000450617	T;T	0.52983	0.64;0.64	5.06	5.06	0.68205	.	0.131917	0.49305	D	0.000150	T	0.71384	0.3333	M	0.83953	2.67	0.49483	D	0.999798	D	0.71674	0.998	D	0.66979	0.948	T	0.77059	-0.2728	10	0.87932	D	0	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	31	Q08379	GOGA2_HUMAN	K	31	ENSP00000416097:E31K;ENSP00000409271:E31K	ENSP00000416097:E31K	E	-	1	0	GOLGA2	130076066	1.000000	0.71417	0.016000	0.15963	0.064000	0.16182	6.116000	0.71571	2.341000	0.79615	0.467000	0.42956	GAA	GOLGA2	-	NULL	ENSG00000167110		0.388	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	-	0	84	0	C	NM_004486		131036245	-1	tier1	-	no_errors	ENST00000421699	ensembl	human	known	74_37	missense	45.28	29	24	SNP	0.999	T	T	131036245	C	T	131036245	3	4	57	1	0	0	0	0	1	0	0	0	6578	922	32	3	3017	3	GOLGA2	9	131036245	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1221031	131036245	10177186	216	14214											
SH3GLB2	56904	genome.wustl.edu	37	chr9	131772121	131772121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttgtctgagacttgacGaactcgtggaggcagcgcag	9	9	15	8	3	1	2	0	2	1	1	2	5	1	3	0	3	2	3	0	3	2	3	rs199675117	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:131772121G>T	ENST00000372564.3	-	9	913	c.768C>A	c.(766-768)ttC>ttA	p.F256L	SH3GLB2_ENST00000416629.1_Missense_Mutation_p.F235L|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.F260L|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.F256L|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.F256L	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	256	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GAGACTTGACGAACTCGTGGA	0.602																																																	0													71	64	66					9																	131772121		2203	4300	6503	SO:0001583	missense	0			AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.768C>A	9.37:g.131772121G>T	ENSP00000361645:p.Phe256Leu		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.F260L	ENST00000372564.3	37	c.780	CCDS6916.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158112	0.78114	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.38	-5.58	0.02512	BAR (3);	0.049322	0.85682	D	0.000000	T	0.69314	0.3097	L	0.60455	1.87	0.58432	D	0.999999	D;P	0.76494	0.999;0.463	D;P	0.69824	0.966;0.578	T	0.71623	-0.4537	10	0.37606	T	0.19	-6.0E-4	16.0695	0.80914	0.8331:0.0:0.1669:0.0	.	260;256	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	L	256;256;260;260;256;235	ENSP00000361645:F256L;ENSP00000361640:F256L;ENSP00000361634:F260L;ENSP00000402566:F256L;ENSP00000388282:F235L	ENSP00000361634:F260L	F	-	3	2	SH3GLB2	130811942	0.317000	0.24589	0.509000	0.27700	0.772000	0.43724	-0.137000	0.10389	-1.037000	0.03283	-1.223000	0.01593	TTC	SH3GLB2	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000148341		0.602	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB2	HGNC	protein_coding	OTTHUMT00000054535.2		0	56	0	G			131772121	-1			no_errors	ENST00000372554	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.951	T	T	131772121	G	T	131772121	3	4	57	1	0	0	0	0	1	0	0	0	14299	1049	37	2	431	2	SH3GLB2	9	131772121	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	735876	131772121	9441310	217	14215											
C9orf50	375759	genome.wustl.edu	37	chr9	132381848	132381848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgatcacccttcagggGccccagaataggtgtctgct	8	10	12	11	0	3	3	2	2	1	1	3	3	3	3	3	3	1	1	3	3	2	2	rs76476617	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:132381848G>T	ENST00000372478.4	-	3	868	c.667C>A	c.(667-669)Ccc>Acc	p.P223T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	223										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CCCTTCAGGGGCCCCAGAATA	0.527																																																	0													103	101	102					9																	132381848		2203	4300	6503	SO:0001583	missense	0			AK093122	CCDS35159.1	9q34.2	2012-03-15			ENSG00000179058	ENSG00000179058			23677	protein-coding gene	gene with protein product							Standard	NM_199350		Approved	FLJ35803	uc004byc.4	Q5SZB4	OTTHUMG00000020786	ENST00000372478.4:c.667C>A	9.37:g.132381848G>T	ENSP00000361556:p.Pro223Thr		Q2M1I2|Q8NA65	Missense_Mutation	SNP	NULL	p.P223T	ENST00000372478.4	37	c.667	CCDS35159.1	9	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.960005	0.00465	.	.	ENSG00000179058	ENST00000372478	T	0.16897	2.31	3.34	-2.92	0.05615	.	1.050780	0.07558	N	0.916519	T	0.05044	0.0135	N	0.04508	-0.205	0.09310	N	1	B	0.23650	0.089	B	0.20184	0.028	T	0.35475	-0.9787	10	0.02654	T	1	-0.9406	3.6831	0.08317	0.4706:0.0:0.324:0.2054	.	223	Q5SZB4	CI050_HUMAN	T	223	ENSP00000361556:P223T	ENSP00000361556:P223T	P	-	1	0	C9orf50	131421669	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.956000	0.03865	-0.641000	0.05487	-0.455000	0.05494	CCC	C9orf50	-	NULL	ENSG00000179058		0.527	C9orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf50	HGNC	protein_coding	OTTHUMT00000054593.1		0	42	0	G	NM_199350		132381848	-1			no_errors	ENST00000372478	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	132381848	G	T	132381848	3	4	57	1	0	0	0	0	1	0	0	0	2494	1203	42	3	648	3	C9orf50	9	132381848	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	609727	132381848	8831583	218	14216											
ABL1	25	genome.wustl.edu	37	chr9	133738375	133738375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtacggggaggtgtacgagGgcgtgtggaagaaatacagc	12	6	18	5	3	0	1	0	0	0	1	0	4	0	3	0	5	4	2	0	5	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:133738375G>A	ENST00000318560.5	+	4	1156	c.775G>A	c.(775-777)Ggc>Agc	p.G259S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	259	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GGTGTACGAGGGCGTGTGGAA	0.622			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													85	86	85					9																	133738375		2203	4300	6503	SO:0001583	missense	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.775G>A	9.37:g.133738375G>A	ENSP00000323315:p.Gly259Ser		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G278S	ENST00000318560.5	37	c.832	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	G	37	6.084767	0.97267	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	D;D	0.86432	-2.12;-2.12	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94282	0.8163	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.94102	0.7363	10	0.72032	D	0.01	.	19.6124	0.95613	0.0:0.0:1.0:0.0	.	259;296	P00519;Q59FK4	ABL1_HUMAN;.	S	74;278;259	ENSP00000361423:G278S;ENSP00000323315:G259S	ENSP00000323315:G259S	G	+	1	0	ABL1	132728196	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.812000	0.99227	2.880000	0.98712	0.650000	0.86243	GGC	ABL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000097007		0.622	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	-	0	51	0	G	NM_007313		133738375	1	tier1	-	no_errors	ENST00000372348	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	A	A	133738375	G	A	133738375	3	1	57	1	0	0	0	0	1	0	0	0	92	1232	43	3	929	3	ABL1	9	133738375	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1356527	133738375	7475056	219	14217											
FAM78A	286336	genome.wustl.edu	37	chr9	134136473	134136473	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgttggtggaggtgttGgtggccaccagccaggtggt	5	11	18	7	1	0	0	0	0	0	0	1	1	0	1	3	7	1	2	3	7	0	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:134136473G>T	ENST00000372271.3	-	2	955	c.588C>A	c.(586-588)acC>acA	p.T196T	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Silent_p.T193T	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	196										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGAGGTGTTGGTGGCCACCA	0.647																																																	0													102	92	95					9																	134136473		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 59"	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.588C>A	9.37:g.134136473G>T			Q86VQ9|Q9H7P4	Silent	SNP	NULL	p.T196	ENST00000372271.3	37	c.588	CCDS6941.2	9																																																																																			FAM78A	-	NULL	ENSG00000126882		0.647	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1		0	31	0	G	NM_033387		134136473	-1			no_errors	ENST00000372271	ensembl	human	known	74_37	silent	8.33	33	3	SNP	1.000	T	T	134136473	G	T	134136473	2	4	57	1	0	0	0	0	0	0	0	1	5648	1335	47	3		3	FAM78A	9	134136473	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	398098	134136473	7076958	220	14218											
FCN2	2220	genome.wustl.edu	37	chr9	137777622	137777622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccacaggttttccaGcggagggtggatggctctgt	5	12	14	10	1	2	0	0	0	2	0	4	2	3	2	2	5	1	3	2	5	0	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:137777622G>T	ENST00000291744.6	+	6	448	c.438G>T	c.(436-438)caG>caT	p.Q146H	FCN2_ENST00000350339.2_Missense_Mutation_p.Q108H	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	146	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.Q146H(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		AGGTTTTCCAGCGGAGGGTGG	0.652																																																	1	Substitution - Missense(1)	lung(1)											54	55	55					9																	137777622		2203	4300	6503	SO:0001583	missense	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.438G>T	9.37:g.137777622G>T	ENSP00000291744:p.Gln146His		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.Q146H	ENST00000291744.6	37	c.438	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879739	0.33162	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.30182	1.54;1.54	3.96	3.04	0.35103	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.40222	N	0.001152	T	0.62097	0.2400	H	0.95745	3.715	0.53688	D	0.999978	D;D	0.69078	0.98;0.997	P;D	0.68765	0.852;0.96	T	0.71354	-0.4618	10	0.87932	D	0	.	9.6541	0.39914	0.1107:0.0:0.8893:0.0	.	108;146	Q15485-2;Q15485	.;FCN2_HUMAN	H	108;146	ENSP00000291741:Q108H;ENSP00000291744:Q146H	ENSP00000291744:Q146H	Q	+	3	2	FCN2	136917443	1.000000	0.71417	0.797000	0.32132	0.079000	0.17450	4.383000	0.59600	1.720000	0.51447	0.563000	0.77884	CAG	FCN2	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000160339		0.652	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1		0	69	0	G	NM_004108		137777622	1			no_errors	ENST00000291744	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.996	T	T	137777622	G	T	137777622	3	4	57	1	0	0	0	0	1	0	0	0	5814	962	34	3	460	3	FCN2	9	137777622	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3641149	137777622	3435809	221	14219											
MRPS2	51116	genome.wustl.edu	37	chr9	138395442	138395442	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgacatcatcgacctGgaacagacagccacgcacct	13	4	8	16	3	1	1	1	0	0	1	2	5	1	2	4	1	2	1	4	1	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:138395442G>T	ENST00000371785.1	+	5	563	c.354G>T	c.(352-354)ctG>ctT	p.L118L	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Silent_p.L118L|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	118					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TCATCGACCTGGAACAGACAG	0.587																																																	0													114	87	96					9																	138395442		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.354G>T	9.37:g.138395442G>T			Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.L118	ENST00000371785.1	37	c.354	CCDS6990.1	9																																																																																			MRPS2	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	ENSG00000122140		0.587	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	-	0	21	0	G			138395442	1	tier1	-	no_errors	ENST00000241600	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T	T	138395442	G	T	138395442	2	4	57	1	0	0	0	0	0	0	0	1	9869	1335	47	3		3	MRPS2	9	138395442	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	617820	138395442	2817989	222	14220											
GLT6D1	360203	genome.wustl.edu	37	chr9	138516139	138516139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcaagctgctgaggtcGgcctcctctcataagggaag	9	8	14	10	1	1	1	1	1	1	0	4	3	2	3	2	4	3	3	2	4	3	1	rs370842340		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr9:138516139G>T	ENST00000371763.1	-	5	888	c.635C>A	c.(634-636)cCg>cAg	p.P212Q		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	212					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.P212L(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGCTGAGGTCGGCCTCCTCTC	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)											94	93	94					9																	138516139		1925	4133	6058	SO:0001583	missense	0			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"Glycosyltransferase family 6 domain containing"	23671	protein-coding gene	gene with protein product		613699	"galactosyltransferase family 6 domain containing 1"	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.635C>A	9.37:g.138516139G>T	ENSP00000360829:p.Pro212Gln			Missense_Mutation	SNP	pfam_Glyco_trans_6	p.P212Q	ENST00000371763.1	37	c.635	CCDS43900.1	9	.	.	.	.	.	.	.	.	.	.	g	9.930	1.214669	0.22289	.	.	ENSG00000204007	ENST00000371763	T	0.01215	5.16	3.49	-5.05	0.02955	.	2.109200	0.01764	N	0.030728	T	0.03011	0.0089	M	0.67569	2.06	0.09310	N	1	D	0.57257	0.979	P	0.58520	0.84	T	0.41538	-0.9503	10	0.36615	T	0.2	-0.1733	0.6542	0.00832	0.243:0.2277:0.3235:0.2058	.	212	Q7Z4J2	GL6D1_HUMAN	Q	212	ENSP00000360829:P212Q	ENSP00000360829:P212Q	P	-	2	0	GLT6D1	137655960	0.100000	0.21855	0.000000	0.03702	0.000000	0.00434	0.580000	0.23803	-1.232000	0.02554	-0.808000	0.03180	CCG	GLT6D1	-	pfam_Glyco_trans_6	ENSG00000204007		0.512	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT6D1	HGNC	protein_coding	OTTHUMT00000055005.2		0	39	0	G	NM_182974		138516139	-1			no_errors	ENST00000371763	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.000	T	T	138516139	G	T	138516139	3	4	57	1	0	0	0	0	1	0	0	0	6494	1116	39	2	199	2	GLT6D1	9	138516139	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	120697	138516139	2697292	223	14221											
PIP4K2A	5305	genome.wustl.edu	37	chr10	23003251	23003251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctaggttgccgggggtcGccatggccgcctcctatgtc	4	9	13	15	3	0	0	0	0	0	0	3	0	1	0	6	4	1	1	6	4	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:23003251G>A	ENST00000376573.4	-	1	233	c.5C>T	c.(4-6)gCg>gTg	p.A2V	PIP4K2A_ENST00000545335.1_5'Flank	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	2					megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GCCGGGGGTCGCCATGGCCGC	0.687																																																	0													55	51	52					10																	23003251		2203	4300	6503	SO:0001583	missense	0			S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.5C>T	10.37:g.23003251G>A	ENSP00000365757:p.Ala2Val		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.A2V	ENST00000376573.4	37	c.5	CCDS7141.1	10	.	.	.	.	.	.	.	.	.	.	g	15.43	2.832583	0.50845	.	.	ENSG00000150867	ENST00000376573	T	0.26810	1.71	3.65	2.72	0.32119	.	0.170990	0.38897	U	0.001535	T	0.10337	0.0253	N	0.08118	0	0.80722	D	1	P	0.38745	0.645	B	0.22753	0.041	T	0.14952	-1.0454	10	0.72032	D	0.01	.	11.3059	0.49334	0.0:0.0:0.816:0.1839	.	2	P48426	PI42A_HUMAN	V	2	ENSP00000365757:A2V	ENSP00000365757:A2V	A	-	2	0	PIP4K2A	23043257	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	6.298000	0.72763	0.748000	0.32831	0.274000	0.19336	GCG	PIP4K2A	-	NULL	ENSG00000150867		0.687	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2A	HGNC	protein_coding	OTTHUMT00000047193.1		0	24	0	G	NM_005028		23003251	-1			no_errors	ENST00000376573	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A	A	23003251	G	A	23003251	3	1	57	1	0	0	0	0	1	0	0	0	11975	1087	38	1	1255	1	PIP4K2A	10	23003251	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		23003251	112531496	224	14222											
MAPK8	5599	genome.wustl.edu	37	chr10	49632587	49632587	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagttgggtgcatcatggGagaaatgatcaaaggtggtg	11	10	16	4	0	3	2	3	1	0	1	3	3	3	2	0	4	1	2	0	4	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:49632587G>T	ENST00000374189.1	+	7	869				MAPK8_ENST00000374182.3_Intron|MAPK8_ENST00000374174.1_Intron|MAPK8_ENST00000360332.3_Intron|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGCATCATGGGAGAAATGATC	0.318																																																	0													199	184	189					10																	49632587		2203	4300	6503	SO:0001627	intron_variant	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.688+385G>T	10.37:g.49632587G>T			B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.G216V	ENST00000374189.1	37	c.647	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605294	0.66445	.	.	ENSG00000107643	ENST00000374179;ENST00000374176	D;D	0.82081	-1.57;-1.57	5.68	5.68	0.88126	.	0.051570	0.85682	D	0.000000	D	0.88952	0.6577	L	0.45581	1.43	0.80722	D	1	D;D	0.65815	0.995;0.983	D;P	0.68943	0.961;0.899	D	0.89084	0.3478	10	0.87932	D	0	.	20.1412	0.98058	0.0:0.0:1.0:0.0	.	216;216	A1L4K2;P45983-3	.;.	V	216	ENSP00000363294:G216V;ENSP00000363291:G216V	ENSP00000363291:G216V	G	+	2	0	MAPK8	49302593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.920000	0.75799	2.838000	0.97847	0.585000	0.79938	GGA	MAPK8	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000107643		0.318	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	-	0	76	0	G			49632587	1	tier1	-	no_errors	ENST00000374176	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T	T	49632587	G	T	49632587	1	4	57	0	1	0	0	0	0	0	0	0	9321	1174	41	3		3	MAPK8	10	49632587	Intron	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	26629336	49632587	85902160	225	14223											
PCDH15	65217	genome.wustl.edu	37	chr10	55568657	55568657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgcactgccctcttcaGggatatcttgagcttcaggg	7	13	10	11	0	5	1	2	1	3	0	5	2	5	2	1	2	3	2	1	2	1	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:55568657G>T	ENST00000395445.1	-	36	5547	c.5153C>A	c.(5152-5154)cCt>cAt	p.P1718H	PCDH15_ENST00000395446.1_Missense_Mutation_p.P914H|PCDH15_ENST00000395440.1_Missense_Mutation_p.P652H|PCDH15_ENST00000395442.1_Missense_Mutation_p.P583H|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCCTCTTCAGGGATATCTTG	0.468										HNSCC(58;0.16)																																							0													112	89	96					10																	55568657		1568	3579	5147	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5153C>A	10.37:g.55568657G>T	ENSP00000378832:p.Pro1718His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1718H	ENST00000395445.1	37	c.5153		10	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789300	0.31685	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.46	2.24	0.28232	.	.	.	.	.	T	0.44540	0.1298	N	0.14661	0.345	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.25140	0.058;0.058	T	0.38672	-0.9650	9	0.87932	D	0	.	2.0562	0.03582	0.1745:0.1556:0.5094:0.1605	.	1716;1718	C6ZEF5;A2A3E2	.;.	H	1718;914;583;652	ENSP00000378832:P1718H;ENSP00000378833:P914H;ENSP00000378829:P583H;ENSP00000378827:P652H	ENSP00000378827:P652H	P	-	2	0	PCDH15	55238663	0.004000	0.15560	0.026000	0.17262	0.039000	0.13416	1.251000	0.32862	1.309000	0.44985	0.655000	0.94253	CCT	PCDH15	-	NULL	ENSG00000150275		0.468	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	-	0	109	0	G	NM_033056		55568657	-1	tier1	-	no_errors	ENST00000395445	ensembl	human	novel	74_37	missense	6.74	83	6	SNP	0.000	T	T	55568657	G	T	55568657	3	4	57	1	0	0	0	0	1	0	0	0	11550	1000	35	3	763	3	PCDH15	10	55568657	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5936070	55568657	79966090	226	14224											
EGR2	1959	genome.wustl.edu	37	chr10	64575781	64575781	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgtctacggccttggcGgtcatcatttgctcctcgca	5	15	9	12	3	3	0	2	0	1	0	5	0	4	0	2	3	2	2	2	3	1	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:64575781G>T	ENST00000242480.3	-	1	334	c.9C>A	c.(7-9)acC>acA	p.T3T	EGR2_ENST00000493899.2_Intron|EGR2_ENST00000439032.1_Silent_p.T3T|EGR2_ENST00000411732.1_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	3					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGCCTTGGCGGTCATCATTT	0.567																																																	0													189	173	178					10																	64575781		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.9C>A	10.37:g.64575781G>T			B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T3	ENST00000242480.3	37	c.9	CCDS7267.1	10																																																																																			EGR2	-	NULL	ENSG00000122877		0.567	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	HGNC	protein_coding	OTTHUMT00000048245.2	-	0	50	0	G	NM_000399		64575781	-1	tier1	-	no_errors	ENST00000242480	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.999	T	T	64575781	G	T	64575781	2	4	57	1	0	0	0	0	0	0	0	1	4986	1103	39	2		2	EGR2	10	64575781	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9007124	64575781	70958966	227	14225											
EIF4EBP2	1979	genome.wustl.edu	37	chr10	72179687	72179687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaactcgaatcatttatGacagaaagtttctgttggat	13	13	9	6	1	2	2	1	1	1	1	3	5	2	4	0	2	1	2	0	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:72179687G>T	ENST00000373218.4	+	2	186	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	55					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						AATCATTTATGACAGAAAGTT	0.428																																																	0													100	102	101					10																	72179687		2203	4300	6503	SO:0001583	missense	0				CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.163G>T	10.37:g.72179687G>T	ENSP00000362314:p.Asp55Tyr			Missense_Mutation	SNP	pfam_EIF4EBP	p.D55Y	ENST00000373218.4	37	c.163	CCDS7303.1	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662647	0.88251	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.84219	2.685	0.80722	D	1	D	0.57899	0.981	P	0.54815	0.761	T	0.80185	-0.1487	9	0.62326	D	0.03	-13.1135	18.6601	0.91469	0.0:0.0:1.0:0.0	.	55	Q13542	4EBP2_HUMAN	Y	55	.	ENSP00000362314:D55Y	D	+	1	0	EIF4EBP2	71849693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.117000	0.94347	2.781000	0.95711	0.650000	0.86243	GAC	EIF4EBP2	-	pfam_EIF4EBP	ENSG00000148730		0.428	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4EBP2	HGNC	protein_coding	OTTHUMT00000048513.1	-	0	25	0	G	NM_004096		72179687	1	tier1	-	no_errors	ENST00000373218	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	72179687	G	T	72179687	3	4	57	1	0	0	0	0	1	0	0	0	5049	1290	45	3	169	3	EIF4EBP2	10	72179687	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7603906	72179687	63355060	228	14226											
PPP3CB	5532	genome.wustl.edu	37	chr10	75199647	75199647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttttcagcctcaataGcctcaactgtggctgtacag	9	13	7	12	0	3	0	3	0	0	0	3	0	3	0	3	1	5	2	3	1	5	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:75199647G>T	ENST00000360663.5	-	13	1490	c.1379C>A	c.(1378-1380)gCt>gAt	p.A460D	PPP3CB_ENST00000544628.1_Missense_Mutation_p.A88D|PPP3CB_ENST00000394829.2_Missense_Mutation_p.A461D|PPP3CB_ENST00000394828.2_Intron			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	460					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					AGCCTCAATAGCCTCAACTGT	0.463																																																	0													213	151	172					10																	75199647		2203	4300	6503	SO:0001583	missense	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9315	protein-coding gene	gene with protein product	"calcineurin A beta", "protein phosphatase 2B, catalytic subunit, beta isoform"	114106	"protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)", "protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1379C>A	10.37:g.75199647G>T	ENSP00000353881:p.Ala460Asp		P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.A461D	ENST00000360663.5	37	c.1382	CCDS7328.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.215268	0.95104	.	.	ENSG00000107758	ENST00000360663;ENST00000394829;ENST00000394823;ENST00000544628;ENST00000430762	T;T;T	0.05855	3.38;3.38;3.38	6.16	6.16	0.99307	.	0.341069	0.27535	N	0.018939	T	0.17746	0.0426	L	0.53249	1.67	0.80722	D	1	P;D	0.52996	0.947;0.957	P;P	0.54499	0.621;0.754	T	0.00041	-1.2232	10	0.34782	T	0.22	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	461;460	Q8N1F0;P16298	.;PP2BB_HUMAN	D	460;461;132;88;122	ENSP00000353881:A460D;ENSP00000378306:A461D;ENSP00000437596:A88D	ENSP00000353881:A460D	A	-	2	0	PPP3CB	74869653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.885000	0.92439	2.937000	0.99478	0.650000	0.86243	GCT	PPP3CB	-	NULL	ENSG00000107758		0.463	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	-	0	95	0	G	NM_021132		75199647	-1	tier1	-	no_errors	ENST00000394829	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	75199647	G	T	75199647	3	4	57	1	0	0	0	0	1	0	0	0	12440	971	34	3	203	3	PPP3CB	10	75199647	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3019960	75199647	60335100	229	14227											
KCNMA1	3778	genome.wustl.edu	37	chr10	78869966	78869966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaccatgaagaggcGcccaagtgtggtttttgcat	12	9	13	7	1	0	4	0	1	0	3	0	5	0	4	2	2	1	2	2	2	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:78869966G>A	ENST00000286628.8	-	8	1095	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C	KCNMA1_ENST00000404771.3_Missense_Mutation_p.R366C|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R366C|KCNMA1_ENST00000286627.5_Missense_Mutation_p.R366C|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R366C|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R366C|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R366C|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R366C	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	366					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R366C(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATGAAGAGGCGCCCAAGTGTG	0.403																																																	2	Substitution - Missense(2)	prostate(2)											162	159	160					10																	78869966		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1096C>T	10.37:g.78869966G>A	ENSP00000286628:p.Arg366Cys		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.R366C	ENST00000286628.8	37	c.1096		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.420305|4.420305	0.83559|0.83559	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|D;D;D;D;D;D;D;D;D	.|0.98090	.|-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.47|5.47	5.47|5.47	0.80525|0.80525	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98947|0.98947	0.9642|0.9642	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.999;0.971;0.999;1.0;1.0	D|D	0.99737|0.99737	1.1014|1.1014	5|10	.|0.87932	.|D	.|0	-10.7629|-10.7629	19.3186|19.3186	0.94226|0.94226	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|366;366;366;366;366;148;366	.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;Q5SVJ7	.|.;.;.;KCMA1_HUMAN;.;.;.	V|C	354;44|366;303;301;340;303;366;366;340;366;366;366;148	.|ENSP00000361517:R366C;ENSP00000361485:R303C;ENSP00000361514:R301C;ENSP00000396608:R340C;ENSP00000361520:R366C;ENSP00000286627:R366C;ENSP00000385552:R366C;ENSP00000346321:R366C;ENSP00000385806:R366C	.|ENSP00000286627:R366C	A|R	-|-	2|1	0|0	KCNMA1|KCNMA1	78539972|78539972	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.648000|0.648000	0.38561|0.38561	9.859000|9.859000	0.99545|0.99545	2.567000|2.567000	0.86603|0.86603	0.643000|0.643000	0.83706|0.83706	GCG|CGC	KCNMA1	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000156113		0.403	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	73	0	G	NM_002247		78869966	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	43.86	32	25	SNP	1.000	A	A	78869966	G	A	78869966	3	1	57	1	0	0	0	0	1	0	0	0	8100	1087	38	1	2870	1	KCNMA1	10	78869966	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3670319	78869966	56664781	230	14228											
WAPAL	23063	genome.wustl.edu	37	chr10	88259811	88259811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgccttttttctgagacGaccagcttctcccaaatctg	8	14	6	13	1	4	1	0	1	4	1	5	3	4	1	3	0	2	1	3	0	1	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:88259811G>T	ENST00000298767.5	-	3	1661	c.1189C>A	c.(1189-1191)Cgt>Agt	p.R397S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	397	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.R397C(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTCTGAGACGACCAGCTTCT	0.388																																																	1	Substitution - Missense(1)	breast(1)											58	59	59					10																	88259811		2203	4300	6503	SO:0001583	missense	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1189C>A	10.37:g.88259811G>T	ENSP00000298767:p.Arg397Ser		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.R397S	ENST00000298767.5	37	c.1189	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	G	13.46	2.242789	0.39598	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.32753	1.44	5.53	3.64	0.41730	.	0.223502	0.39687	N	0.001288	T	0.33673	0.0871	L	0.53249	1.67	0.80722	D	1	P;P;P	0.51537	0.649;0.649;0.946	B;B;P	0.47118	0.199;0.199;0.538	T	0.10222	-1.0639	10	0.46703	T	0.11	.	10.9458	0.47299	0.0682:0.0:0.8034:0.1284	.	397;397;440	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	S	482;397;482	ENSP00000298767:R397S	ENSP00000298767:R397S	R	-	1	0	WAPAL	88249791	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.209000	0.58493	1.323000	0.45263	0.650000	0.86243	CGT	WAPAL	-	NULL	ENSG00000062650		0.388	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2		0	29	0	G	NM_015045		88259811	-1			no_errors	ENST00000298767	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.996	T	T	88259811	G	T	88259811	3	4	57	1	0	0	0	0	1	0	0	0	17297	1058	37	2	2451	2	WAPAL	10	88259811	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9389845	88259811	47274936	231	14229											
MMRN2	79812	genome.wustl.edu	37	chr10	88703372	88703372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgcaactcctcctccCtgcgggccgtggtcatgtgc	4	11	11	15	2	1	0	1	0	0	0	4	0	4	0	4	2	5	2	4	2	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:88703372C>T	ENST00000372027.5	-	6	1490	c.1169G>A	c.(1168-1170)aGg>aAg	p.R390K	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	390					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CTCCTCCTCCCTGCGGGCCGT	0.642																																																	0													79	66	71					10																	88703372		2203	4300	6503	SO:0001583	missense	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.1169G>A	10.37:g.88703372C>T	ENSP00000361097:p.Arg390Lys		Q504V7|Q6P2N2	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.R390K	ENST00000372027.5	37	c.1169	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	C	3.739	-0.054057	0.07362	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.70045	-0.45	4.96	3.11	0.35812	.	0.349055	0.24755	N	0.035868	T	0.58366	0.2117	M	0.71581	2.175	0.09310	N	1	P;P;B	0.38020	0.473;0.615;0.296	B;B;B	0.37047	0.24;0.158;0.045	T	0.45512	-0.9256	10	0.13853	T	0.58	-19.5355	6.6673	0.23047	0.1437:0.6992:0.0:0.157	.	168;329;390	E7EN39;B4E3H8;Q9H8L6	.;.;MMRN2_HUMAN	K	390;168	ENSP00000361097:R390K	ENSP00000361097:R390K	R	-	2	0	MMRN2	88693352	0.889000	0.30405	0.080000	0.20451	0.100000	0.18952	0.838000	0.27572	0.501000	0.28013	0.462000	0.41574	AGG	MMRN2	-	NULL	ENSG00000173269		0.642	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2	-	0	104	0	C	NM_024756		88703372	-1	tier1	-	no_errors	ENST00000372027	ensembl	human	known	74_37	missense	73.47	13	36	SNP	0.080	T	T	88703372	C	T	88703372	3	4	57	1	0	0	0	0	1	0	0	0	9709	681	24	3	1688	3	MMRN2	10	88703372	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	443561	88703372	46831375	232	14230											
LIPF	8513	genome.wustl.edu	37	chr10	90436001	90436001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaattccaagcttatgactgGggaagcccagttcagaatag	14	9	10	8	0	1	2	1	1	0	1	2	3	2	3	2	2	2	2	2	2	6	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:90436001G>T	ENST00000238983.4	+	9	970	c.924G>T	c.(922-924)tgG>tgT	p.W308C	LIPF_ENST00000608620.1_Missense_Mutation_p.W275C|LIPF_ENST00000394375.3_Missense_Mutation_p.W318C|LIPF_ENST00000355843.2_Missense_Mutation_p.W285C	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	308					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CTTATGACTGGGGAAGCCCAG	0.294																																																	0													68	70	69					10																	90436001		2203	4300	6503	SO:0001583	missense	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.924G>T	10.37:g.90436001G>T	ENSP00000238983:p.Trp308Cys		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.W318C	ENST00000238983.4	37	c.954	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	G	10.92	1.485867	0.26686	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.61742	0.08;0.08;0.08	4.88	2.95	0.34219	Alpha/beta hydrolase fold-1 (1);	0.267665	0.27411	N	0.019481	T	0.79305	0.4423	H	0.94462	3.54	0.48975	D	0.999734	D;D;D;D	0.89917	0.997;1.0;0.997;1.0	D;D;D;D	0.91635	0.969;0.998;0.964;0.999	T	0.79584	-0.1743	10	0.87932	D	0	-0.6109	7.8251	0.29311	0.0:0.1788:0.6356:0.1855	.	275;318;285;308	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	C	318;308;275	ENSP00000377900:W318C;ENSP00000238983:W308C;ENSP00000348101:W275C	ENSP00000238983:W308C	W	+	3	0	LIPF	90425981	1.000000	0.71417	0.995000	0.50966	0.257000	0.26127	3.375000	0.52410	0.606000	0.29965	0.551000	0.68910	TGG	LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.294	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	-	0	30	0	G			90436001	1	tier1	-	no_errors	ENST00000394375	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.997	T	T	90436001	G	T	90436001	3	4	57	1	0	0	0	0	1	0	0	0	8852	1241	43	3	954	3	LIPF	10	90436001	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1732629	90436001	45098746	233	14231											
SLIT1	6585	genome.wustl.edu	37	chr10	98778853	98778853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttggcctggacagccaGcgttggaggacctgcagcaa	10	6	13	12	1	0	0	0	0	0	0	0	3	0	3	3	4	4	3	3	4	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:98778853G>T	ENST00000266058.4	-	27	3003	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.L920M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	920					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGGACAGCCAGCGTTGGAGGA	0.657																																																	0													47	44	45					10																	98778853		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2758C>A	10.37:g.98778853G>T	ENSP00000266058:p.Leu920Met		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L920M	ENST00000266058.4	37	c.2758	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	G	6.087	0.384319	0.11524	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.81908	-1.55;-1.55	5.54	2.56	0.30785	.	0.459742	0.21707	N	0.070328	T	0.67961	0.2949	L	0.38175	1.15	0.40466	D	0.980293	P	0.34780	0.468	B	0.29942	0.109	T	0.66073	-0.6014	10	0.46703	T	0.11	.	2.1728	0.03854	0.2192:0.1363:0.5041:0.1404	.	920	O75093	SLIT1_HUMAN	M	920	ENSP00000266058:L920M;ENSP00000360109:L920M	ENSP00000266058:L920M	L	-	1	2	SLIT1	98768843	0.025000	0.19082	0.854000	0.33618	0.382000	0.30200	0.262000	0.18460	1.359000	0.45940	0.462000	0.41574	CTG	SLIT1	-	NULL	ENSG00000187122		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1		0	37	0	G	NM_003061		98778853	-1			no_errors	ENST00000266058	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.041	T	T	98778853	G	T	98778853	3	4	57	1	0	0	0	0	1	0	0	0	14784	962	34	3	1890	3	SLIT1	10	98778853	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8342852	98778853	36755894	234	14232											
LOXL4	84171	genome.wustl.edu	37	chr10	100012168	100012168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcccctcagccaccttGgagccattgagagtgaggag	8	9	13	11	0	1	2	1	2	0	1	1	5	1	4	5	2	3	0	5	2	0	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:100012168G>T	ENST00000260702.3	-	12	2043	c.1893C>A	c.(1891-1893)tcC>tcA	p.S631S	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	631	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGCCACCTTGGAGCCATTGA	0.552																																																	0													175	159	164					10																	100012168		2203	4300	6503	SO:0001819	synonymous_variant	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1893C>A	10.37:g.100012168G>T			Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.S631	ENST00000260702.3	37	c.1893	CCDS7473.1	10																																																																																			LOXL4	-	pfam_Lysyl_oxidase	ENSG00000138131		0.552	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	-	0	69	0	G	NM_032211		100012168	-1	tier1	-	no_errors	ENST00000260702	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.999	T	T	100012168	G	T	100012168	2	4	57	1	0	0	0	0	0	0	0	1	8937	1335	47	3		3	LOXL4	10	100012168	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1233315	100012168	35522579	235	14233											
GBF1	8729	genome.wustl.edu	37	chr10	104128195	104128195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagacaatcatccagaaaGccatctcaggcttcaggtag	14	7	10	10	0	3	2	3	0	1	2	5	3	4	2	2	3	1	2	2	3	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:104128195G>T	ENST00000369983.3	+	22	3120	c.2860G>T	c.(2860-2862)Gcc>Tcc	p.A954S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	954					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATCCAGAAAGCCATCTCAGG	0.502																																																	0													93	88	90					10																	104128195		2203	4300	6503	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2860G>T	10.37:g.104128195G>T	ENSP00000359000:p.Ala954Ser		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.A954S	ENST00000369983.3	37	c.2860	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	13.92	2.380254	0.42207	.	.	ENSG00000107862	ENST00000369983	T	0.73789	-0.78	5.49	4.56	0.56223	.	0.134493	0.64402	N	0.000002	T	0.66277	0.2773	L	0.42581	1.335	0.80722	D	1	P;P;B	0.48230	0.907;0.533;0.003	B;B;B	0.38500	0.275;0.076;0.003	T	0.69117	-0.5230	10	0.45353	T	0.12	-11.2156	15.2275	0.73361	0.0:0.0:0.8425:0.1575	.	954;954;954	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	S	954	ENSP00000359000:A954S	ENSP00000359000:A954S	A	+	1	0	GBF1	104118185	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.575000	0.82447	1.473000	0.48159	0.655000	0.94253	GCC	GBF1	-	NULL	ENSG00000107862		0.502	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	-	0	58	0	G			104128195	1	tier1	-	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	104128195	G	T	104128195	3	4	57	1	0	0	0	0	1	0	0	0	6296	971	34	3	2942	3	GBF1	10	104128195	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4116027	104128195	31406552	236	14234											
PDCD4	27250	genome.wustl.edu	37	chr10	112649298	112649298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcctttttacagttggtggGccagtttattgctagagctg	6	17	11	7	0	0	1	0	0	0	1	1	1	1	1	2	2	3	4	2	2	3	9			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:112649298G>T	ENST00000280154.7	+	7	1059	c.785G>T	c.(784-786)gGc>gTc	p.G262V	PDCD4_ENST00000393104.2_Missense_Mutation_p.G251V|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	262	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CAGTTGGTGGGCCAGTTTATT	0.303																																					Ovarian(115;1498 1603 9363 40056 40885)												0													151	169	162					10																	112649298		2203	4300	6503	SO:0001583	missense	0			U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"nuclear antigen H731"	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.785G>T	10.37:g.112649298G>T	ENSP00000280154:p.Gly262Val		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	p.G262V	ENST00000280154.7	37	c.785	CCDS7567.1	10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566132	0.86439	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.34072	1.38;1.38	5.88	5.88	0.94601	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65270	0.2675	M	0.81341	2.54	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.981;0.981	T	0.67444	-0.5669	10	0.87932	D	0	-7.4803	20.2405	0.98372	0.0:0.0:1.0:0.0	.	248;262;251	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	V	262;251	ENSP00000280154:G262V;ENSP00000376816:G251V	ENSP00000280154:G262V	G	+	2	0	PDCD4	112639288	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.444000	0.97578	2.797000	0.96272	0.561000	0.74099	GGC	PDCD4	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	ENSG00000150593		0.303	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD4	HGNC	protein_coding	OTTHUMT00000050361.1	-	0	22	0	G	NM_014456		112649298	1	tier1	-	no_errors	ENST00000280154	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	T	T	112649298	G	T	112649298	3	4	57	1	0	0	0	0	1	0	0	0	11660	1203	42	3	821	3	PDCD4	10	112649298	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8521103	112649298	22885449	237	14235											
ATRNL1	26033	genome.wustl.edu	37	chr10	117226743	117226743	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttaatctcaacattacGtggtctgtcggttcaacagg	11	13	8	9	2	3	0	2	0	2	0	5	0	3	0	0	3	4	1	0	3	5	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:117226743G>T	ENST00000355044.3	+	23	3603	c.3477G>T	c.(3475-3477)acG>acT	p.T1159T	ATRNL1_ENST00000423111.2_Silent_p.T210T|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1159					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCAACATTACGTGGTCTGTCG	0.294																																																	0													130	125	127					10																	117226743		2202	4296	6498	SO:0001819	synonymous_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3477G>T	10.37:g.117226743G>T			O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.T1159	ENST00000355044.3	37	c.3477	CCDS7592.1	10																																																																																			ATRNL1	-	NULL	ENSG00000107518		0.294	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	91	0	G	XM_049349		117226743	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.018	T	T	117226743	G	T	117226743	2	4	57	1	0	0	0	0	0	0	0	1	1208	1132	40	2		2	ATRNL1	10	117226743	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4577445	117226743	18308004	238	14236											
GRK5	2869	genome.wustl.edu	37	chr10	121207692	121207692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggagggggctgcagagGtcaagagacaccccttcttc	10	6	15	10	0	2	2	1	0	1	2	3	5	2	4	2	5	1	2	2	5	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr10:121207692G>A	ENST00000392870.2	+	13	1653	c.1324G>A	c.(1324-1326)Gtc>Atc	p.V442I	GRK5_ENST00000369108.3_Missense_Mutation_p.V337I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GGCTGCAGAGGTCAAGAGACA	0.602																																																	0													122	130	127					10																	121207692		2203	4300	6503	SO:0001583	missense	0			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1324G>A	10.37:g.121207692G>A	ENSP00000376609:p.Val442Ile		D3DRD0|Q5T059	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.V442I	ENST00000392870.2	37	c.1324	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	g	16.63	3.178022	0.57692	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	T;T	0.50001	0.76;0.76	4.11	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.570657	0.14972	N	0.287769	T	0.30135	0.0755	N	0.04686	-0.185	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.20767	0.022;0.031	T	0.08207	-1.0733	10	0.27785	T	0.31	-22.1927	16.5366	0.84374	0.0:0.0:1.0:0.0	.	442;442	B2R7K0;P34947	.;GRK5_HUMAN	I	442;185;337	ENSP00000376609:V442I;ENSP00000358104:V337I	ENSP00000358104:V337I	V	+	1	0	GRK5	121197682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.758000	0.85224	2.086000	0.62901	0.655000	0.94253	GTC	GRK5	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000198873		0.602	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	-	0	80	0	G	NM_005308		121207692	1	tier1	-	no_errors	ENST00000392870	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	A	A	121207692	G	A	121207692	3	1	57	1	0	0	0	0	1	0	0	0	6819	1261	44	3	1374	3	GRK5	10	121207692	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3980949	121207692	14327055	239	14237											
OSBPL5	114879	genome.wustl.edu	37	chr11	3123435	3123435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgctatgtagaatgtgCggctgtcagtctgcgggtgg	5	12	16	8	2	3	1	1	0	2	1	3	1	3	1	0	3	3	4	0	3	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:3123435C>G	ENST00000263650.7	-	12	1562	c.1403G>C	c.(1402-1404)cGc>cCc	p.R468P	OSBPL5_ENST00000542243.1_Missense_Mutation_p.R99P|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R400P|OSBPL5_ENST00000389989.3_Missense_Mutation_p.R400P|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R379P	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	468					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTAGAATGTGCGGCTGTCAGT	0.632																																																	0													51	42	45					11																	3123435		2201	4297	6498	SO:0001583	missense	0			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1403G>C	11.37:g.3123435C>G	ENSP00000263650:p.Arg468Pro		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R468P	ENST00000263650.7	37	c.1403	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	12.41	1.928988	0.34002	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	3.82	1.5	0.22942	.	0.209101	0.42821	D	0.000644	T	0.48554	0.1506	M	0.85777	2.775	0.25041	N	0.991202	P;P;D;B	0.53151	0.86;0.94;0.958;0.078	P;P;P;P	0.57911	0.829;0.829;0.763;0.546	T	0.40515	-0.9559	10	0.66056	D	0.02	-21.2792	7.346	0.26664	0.0:0.189:0.0:0.811	.	379;429;400;468	B4DVB0;E7EP03;Q8N596;Q9H0X9	.;.;.;OSBL5_HUMAN	P	468;400;21;379;99;400;87	ENSP00000263650:R468P;ENSP00000374639:R400P;ENSP00000431412:R21P;ENSP00000433342:R379P;ENSP00000441551:R99P;ENSP00000302872:R400P	ENSP00000263650:R468P	R	-	2	0	OSBPL5	3080011	0.908000	0.30866	0.996000	0.52242	0.048000	0.14542	1.067000	0.30616	0.115000	0.18071	-0.339000	0.08088	CGC	OSBPL5	-	pfam_Oxysterol-bd	ENSG00000021762		0.632	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	-	0	43	0	C			3123435	-1	tier1	-	no_errors	ENST00000263650	ensembl	human	known	74_37	missense	62.50	12	20	SNP	0.999	G	G	3123435	C	G	3123435	3	3	57	1	0	0	0	0	1	0	0	0	11319	768	27	5	1280	5	OSBPL5	11	3123435	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09		3123435	131883081	240	14238											
OR51A4	401666	genome.wustl.edu	37	chr11	4967901	4967901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatactatccctatttgggCaactctgacagttgtcagga	11	12	9	9	0	2	1	1	1	1	0	3	3	3	2	1	2	2	2	1	2	5	5	rs372905416		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:4967901C>T	ENST00000380373.2	-	1	455	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423																																																	0								C	THR/ALA	3,4379	6.2+/-15.9	1,1,2189	224	227	226		430	-0.8	0	11		226	0,8540		0,0,4270	no	missense	OR51A4	NM_001005329.1	58	1,1,6459	TT,TC,CC		0.0,0.0685,0.0232	benign	144/314	4967901	3,12919	2191	4270	6461	SO:0001583	missense	0			AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"GPCR / Class A : Olfactory receptors"	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.430G>A	11.37:g.4967901C>T	ENSP00000369731:p.Ala144Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A144T	ENST00000380373.2	37	c.430	CCDS31367.1	11	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619325	0.46736	6.85E-4	0.0	ENSG00000205497	ENST00000380373	T	0.37752	1.18	3.58	-0.829	0.10796	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.25865	0.0630	L	0.50919	1.6	0.09310	N	1	B	0.19583	0.037	B	0.21360	0.034	T	0.27872	-1.0061	9	0.25751	T	0.34	.	3.1406	0.06455	0.3168:0.4042:0.0:0.279	.	144	Q8NGJ6	O51A4_HUMAN	T	144	ENSP00000369731:A144T	ENSP00000369731:A144T	A	-	1	0	OR51A4	4924477	0.000000	0.05858	0.000000	0.03702	0.833000	0.47200	-0.726000	0.04936	-0.276000	0.09206	0.580000	0.79431	GCC	OR51A4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205497		0.423	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A4	HGNC	protein_coding	OTTHUMT00000142821.1		0	31	0	C	NM_001005329		4967901	-1			no_errors	ENST00000380373	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.000	T	T	4967901	C	T	4967901	3	4	57	1	0	0	0	0	1	0	0	0	11126	710	25	3	513	3	OR51A4	11	4967901	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1844466	4967901	130038615	241	14239											
MUC15	143662	genome.wustl.edu	37	chr11	26582746	26582746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaaaactcacatcataagGttccggtgcattgtctaatc	12	11	6	12	1	3	0	2	0	1	0	5	0	4	0	2	2	2	2	2	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:26582746G>T	ENST00000455601.2	-	4	989	c.871C>A	c.(871-873)Cct>Act	p.P291T	ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P318T|MUC15_ENST00000527569.1_Missense_Mutation_p.P268T|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.P268T|MUC15_ENST00000436318.2_Missense_Mutation_p.P318T	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	291					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCATAAGGTTCCGGTGCA	0.378																																																	0													132	118	123					11																	26582746		2203	4300	6503	SO:0001583	missense	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.871C>A	11.37:g.26582746G>T	ENSP00000397339:p.Pro291Thr		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.P318T	ENST00000455601.2	37	c.952	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841512	0.71488	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.56103	0.55;0.48;0.56;0.48;0.56	5.43	4.47	0.54385	.	0.000000	0.49305	D	0.000142	T	0.61223	0.2330	L	0.29908	0.895	0.33870	D	0.634865	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.998	T	0.70981	-0.4724	10	0.72032	D	0.01	-17.8666	15.0721	0.72046	0.0:0.0:0.8581:0.1419	.	268;291;318	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	T	291;318;268;318;268	ENSP00000397339:P291T;ENSP00000416753:P318T;ENSP00000281268:P268T;ENSP00000431983:P318T;ENSP00000431945:P268T	ENSP00000281268:P268T	P	-	1	0	MUC15	26539322	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.315000	0.43752	2.708000	0.92522	0.591000	0.81541	CCT	MUC15	-	NULL	ENSG00000169550		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1		0	37	0	G	NM_145650		26582746	-1			no_errors	ENST00000436318	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	26582746	G	T	26582746	3	4	57	1	0	0	0	0	1	0	0	0	10010	1261	44	3	137	3	MUC15	11	26582746	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	21614845	26582746	108423770	242	14240											
MPPED2	744	genome.wustl.edu	37	chr11	30557580	30557580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttaacctctgagggcagtcCcagctcggtgaaatcgcctg	8	9	11	13	2	1	2	0	2	1	0	4	2	2	2	3	2	2	2	3	2	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:30557580C>T	ENST00000358117.5	-	2	393	c.271G>A	c.(271-273)Gga>Aga	p.G91R	MPPED2_ENST00000448418.2_Missense_Mutation_p.G91R	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	91					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GAGGGCAGTCCCAGCTCGGTG	0.512																																																	0													102	92	95					11																	30557580		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.271G>A	11.37:g.30557580C>T	ENSP00000350833:p.Gly91Arg		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.G91R	ENST00000358117.5	37	c.271	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988020	0.74589	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	D;D	0.88586	-2.4;-2.4	5.87	4.96	0.65561	Metallophosphoesterase domain (1);	0.100321	0.64402	D	0.000002	D	0.95655	0.8587	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96712	0.9526	10	0.87932	D	0	-6.4152	16.7771	0.85553	0.13:0.87:0.0:0.0	.	91;91	Q15777;E9PB10	MPPD2_HUMAN;.	R	91	ENSP00000388258:G91R;ENSP00000350833:G91R	ENSP00000350833:G91R	G	-	1	0	MPPED2	30514156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	1.610000	0.50200	0.655000	0.94253	GGA	MPPED2	-	pfam_PEstase_dom	ENSG00000066382		0.512	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0	55	0	C	NM_001584		30557580	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	T	T	30557580	C	T	30557580	3	4	57	1	0	0	0	0	1	0	0	0	9780	632	22	3	705	3	MPPED2	11	30557580	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	3974834	30557580	104448936	243	14241											
C11orf41	25758	genome.wustl.edu	37	chr11	33566437	33566437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccagcagcagccctttGgccgtggcctcaggaccagc	7	5	13	16	1	1	0	1	0	0	0	1	1	1	1	5	4	4	3	5	4	0	1	rs372391492		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:33566437G>T	ENST00000321505.4	+	2	2187	c.2007G>T	c.(2005-2007)ttG>ttT	p.L669F	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.L675F|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.L675F			Q6ZVL6	K154L_HUMAN	KIAA1549-like	669						integral component of membrane (GO:0016021)											GCAGCCCTTTGGCCGTGGCCT	0.557																																																	0													42	45	44					11																	33566437		2002	4165	6167	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2007G>T	11.37:g.33566437G>T	ENSP00000315295:p.Leu669Phe		B0QYU0	Missense_Mutation	SNP	NULL	p.L675F	ENST00000321505.4	37	c.2025	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.177|5.177	0.218285|0.218285	0.09810|0.09810	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	3.52|3.52	-1.89|-1.89	0.07689|0.07689	.|.	0.213153|.	0.23261|.	U|.	0.050121|.	T|T	0.18045|0.18045	0.0433|0.0433	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.29909|.	0.261;0.101|.	B;B|.	0.28784|.	0.094;0.073|.	T|T	0.25398|0.25398	-1.0133|-1.0133	9|5	0.46703|.	T|.	0.11|.	.|.	0.2797|0.2797	0.00243|0.00243	0.2471:0.1663:0.3133:0.2732|0.2471:0.1663:0.3133:0.2732	.|.	675;675|.	E9PAT2;Q6ZVL6-2|.	.;.|.	F|L	669;675;675;509|67	.|.	ENSP00000265654:L675F|.	L|W	+|+	3|2	2|0	C11orf41|C11orf41	33523013|33523013	0.001000|0.001000	0.12720|0.12720	0.836000|0.836000	0.33094|0.33094	0.553000|0.553000	0.35397|0.35397	-0.906000|-0.906000	0.04071|0.04071	0.072000|0.072000	0.16694|0.16694	0.537000|0.537000	0.68136|0.68136	TTG|TGG	KIAA1549L	-	NULL	ENSG00000110427		0.557	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0	47	0	G	NM_012194		33566437	1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.015	T	T	33566437	G	T	33566437	3	4	57	1	0	0	0	0	1	0	0	0	1645	1339	47	3	2031	3	C11orf41	11	33566437	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3008857	33566437	101440079	244	14242											
ZNF408	79797	genome.wustl.edu	37	chr11	46727347	46727347	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgccgcccccagcctggtGctaatccataaggacatggg	9	7	12	13	1	0	0	0	0	0	0	1	2	1	1	5	3	3	1	5	3	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:46727347G>T	ENST00000311764.2	+	5	2327	c.2097G>T	c.(2095-2097)gtG>gtT	p.V699V		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	699					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCAGCCTGGTGCTAATCCATA	0.582																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													31	29	30					11																	46727347		2201	4299	6500	SO:0001819	synonymous_variant	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.2097G>T	11.37:g.46727347G>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V699	ENST00000311764.2	37	c.2097	CCDS7923.1	11																																																																																			ZNF408	-	NULL	ENSG00000175213		0.582	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0	45	0	G	NM_024741		46727347	1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.628	T	T	46727347	G	T	46727347	2	4	57	1	0	0	0	0	0	0	0	1	17936	1306	46	3		3	ZNF408	11	46727347	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13160910	46727347	88279169	245	14243											
LRP4	4038	genome.wustl.edu	37	chr11	46912004	46912004	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatccatgctggaggccTcaatacggggggtgttgccc	7	8	14	12	1	1	0	1	0	0	0	2	1	2	1	4	5	4	2	4	5	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:46912004T>C	ENST00000378623.1	-	14	1981	c.1739A>G	c.(1738-1740)gAg>gGg	p.E580G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	580					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTGGAGGCCTCAATACGGGG	0.547											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													44	42	43					11																	46912004		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1739A>G	11.37:g.46912004T>C	ENSP00000367888:p.Glu580Gly	942	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E580G	ENST00000378623.1	37	c.1739	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	T	29.3	4.994726	0.93167	.	.	ENSG00000134569	ENST00000378623	D	0.95035	-3.59	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97169	0.9843	10	0.87932	D	0	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	580	O75096	LRP4_HUMAN	G	580	ENSP00000367888:E580G	ENSP00000367888:E580G	E	-	2	0	LRP4	46868580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.308000	0.77769	0.533000	0.62120	GAG	LRP4	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.547	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1		0	24	0	T	NM_002334		46912004	-1			no_errors	ENST00000378623	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	C	C	46912004	T	C	46912004	3	2	57	1	0	0	0	0	1	0	0	0	8994	1551	54	4	4078	4	LRP4	11	46912004	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	184657	46912004	88094512	246	14244											
C11orf49	79096	genome.wustl.edu	37	chr11	47179366	47179366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctctccttcttagctGcccacccccagcacttgtca	6	11	6	18	0	3	0	1	0	2	0	5	0	4	0	4	1	3	3	4	1	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:47179366G>T	ENST00000278460.7	+	7	709	c.650G>T	c.(649-651)tGc>tTc	p.C217F	C11orf49_ENST00000543718.1_Missense_Mutation_p.C133F|C11orf49_ENST00000536126.1_Missense_Mutation_p.C120F|C11orf49_ENST00000378615.3_Missense_Mutation_p.C217F|C11orf49_ENST00000378618.2_Missense_Mutation_p.C217F|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000395460.2_Missense_Mutation_p.C217F	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	217						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						CTTCTTAGCTGCCCACCCCCA	0.532																																																	0													143	139	140					11																	47179366		2201	4299	6500	SO:0001583	missense	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.650G>T	11.37:g.47179366G>T	ENSP00000278460:p.Cys217Phe		D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	NULL	p.C217F	ENST00000278460.7	37	c.650	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157333	0.38119	.	.	ENSG00000149179	ENST00000536126;ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000543718;ENST00000526827	T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95	6.07	6.07	0.98685	.	0.139441	0.64402	D	0.000002	T	0.45994	0.1370	M	0.70595	2.14	0.54753	D	0.999983	D;D;P;D;D	0.89917	1.0;1.0;0.806;0.994;0.994	D;D;B;D;D	0.85130	0.997;0.997;0.312;0.931;0.931	T	0.17471	-1.0368	10	0.09590	T	0.72	-21.5701	20.6439	0.99570	0.0:0.0:1.0:0.0	.	133;133;217;217;217	F5H6E0;B4DEG1;E9PAX7;Q9H6J7-2;Q9H6J7	.;.;.;.;CK049_HUMAN	F	120;217;217;217;217;133;143	ENSP00000438207:C120F;ENSP00000278460:C217F;ENSP00000367881:C217F;ENSP00000378844:C217F;ENSP00000367878:C217F;ENSP00000437689:C133F;ENSP00000433707:C143F	ENSP00000278460:C217F	C	+	2	0	C11orf49	47135942	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.609000	0.74173	2.884000	0.98904	0.655000	0.94253	TGC	C11orf49	-	NULL	ENSG00000149179		0.532	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	-	0	76	0	G	NM_024113		47179366	1	tier1	-	no_errors	ENST00000378615	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	47179366	G	T	47179366	3	4	57	1	0	0	0	0	1	0	0	0	1650	1319	46	3	676	3	C11orf49	11	47179366	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	267362	47179366	87827150	247	14245											
OR4C6	219432	genome.wustl.edu	37	chr11	55433334	55433334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacagctctaaagggcGgcacaaagccctctctacct	10	9	8	14	1	3	0	0	0	3	0	4	0	3	0	2	2	4	2	2	2	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:55433334G>T	ENST00000314259.3	+	1	721	c.692G>T	c.(691-693)cGg>cTg	p.R231L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTAAAGGGCGGCACAAAGCC	0.507																																																	0													131	125	127					11																	55433334		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.692G>T	11.37:g.55433334G>T	ENSP00000324769:p.Arg231Leu		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R231L	ENST00000314259.3	37	c.692	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	G	9.155	1.017225	0.19355	.	.	ENSG00000181903	ENST00000314259	T	0.00330	8.08	4.07	1.13	0.20643	GPCR, rhodopsin-like superfamily (1);	0.754623	0.10587	N	0.657205	T	0.00666	0.0022	M	0.86651	2.83	0.09310	N	1	P	0.48350	0.909	P	0.56127	0.792	T	0.40590	-0.9555	10	0.87932	D	0	.	8.2271	0.31575	0.3655:0.0:0.6345:0.0	.	231	Q8NH72	OR4C6_HUMAN	L	231	ENSP00000324769:R231L	ENSP00000324769:R231L	R	+	2	0	OR4C6	55189910	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.252000	0.08806	-0.080000	0.12685	-0.406000	0.06334	CGG	OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181903		0.507	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1		0	100	0	G	NM_001004704		55433334	1			no_errors	ENST00000314259	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.002	T	T	55433334	G	T	55433334	3	4	57	1	0	0	0	0	1	0	0	0	11091	1116	39	2	694	2	OR4C6	11	55433334	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8253968	55433334	79573182	248	14246											
OR5T2	219464	genome.wustl.edu	37	chr11	56000574	56000574	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttgaagatatgcataaAgttacagttcatattatgac	17	13	6	5	0	1	3	1	2	0	1	1	3	1	3	0	0	3	3	0	0	8	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:56000574A>C	ENST00000313264.4	-	1	163	c.88T>G	c.(88-90)Ttt>Gtt	p.F30V		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ATATGCATAAAGTTACAGTTC	0.353																																																	0													91	84	86					11																	56000574		2201	4295	6496	SO:0001583	missense	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.88T>G	11.37:g.56000574A>C	ENSP00000323688:p.Phe30Val		B9EGX5|Q6IFC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F30V	ENST00000313264.4	37	c.88	CCDS31523.1	11	.	.	.	.	.	.	.	.	.	.	A	9.159	1.018234	0.19355	.	.	ENSG00000181718	ENST00000313264	T	0.00640	6.03	2.95	-3.58	0.04597	.	.	.	.	.	T	0.00412	0.0013	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.47142	-0.9140	9	0.62326	D	0.03	.	0.7715	0.01024	0.4147:0.164:0.2605:0.1608	.	30	Q8NGG2	OR5T2_HUMAN	V	30	ENSP00000323688:F30V	ENSP00000323688:F30V	F	-	1	0	OR5T2	55757150	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.030000	0.12308	-0.720000	0.04935	-0.850000	0.03035	TTT	OR5T2	-	NULL	ENSG00000181718		0.353	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0	45	0	A	NM_001004746		56000574	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	missense	39.39	20	13	SNP	0.000	C	C	56000574	A	C	56000574	3	2	57	1	0	0	0	0	1	0	0	0	11221	72	3	4	990	4	OR5T2	11	56000574	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	567240	56000574	79005942	249	14247											
CTNND1	1500	genome.wustl.edu	37	chr11	57564452	57564452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacaccctctgaccctcGtcggcgcctcaggtaggcaa	7	7	12	15	3	2	1	1	1	1	0	4	2	2	2	3	4	0	2	3	4	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:57564452G>T	ENST00000399050.4	+	6	1480	c.944G>T	c.(943-945)cGt>cTt	p.R315L	CTNND1_ENST00000361796.4_Missense_Mutation_p.R315L|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532245.1_Missense_Mutation_p.R214L|CTNND1_ENST00000528621.1_Missense_Mutation_p.R261L|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.R315L|CTNND1_ENST00000528232.1_Missense_Mutation_p.R214L|CTNND1_ENST00000529526.1_Missense_Mutation_p.R261L|CTNND1_ENST00000426142.2_Missense_Mutation_p.R214L|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.R261L|CTNND1_ENST00000524630.1_Missense_Mutation_p.R315L|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000428599.2_Missense_Mutation_p.R315L|CTNND1_ENST00000532787.1_Missense_Mutation_p.R214L|CTNND1_ENST00000530094.1_Missense_Mutation_p.R214L|CTNND1_ENST00000529919.1_Missense_Mutation_p.R315L|CTNND1_ENST00000534579.1_Missense_Mutation_p.R261L|CTNND1_ENST00000415361.2_Missense_Mutation_p.R214L|CTNND1_ENST00000532463.1_Missense_Mutation_p.R214L|CTNND1_ENST00000532844.1_Missense_Mutation_p.R261L|CTNND1_ENST00000529986.1_Missense_Mutation_p.R214L|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.R315L|CTNND1_ENST00000530748.1_Missense_Mutation_p.R261L|CTNND1_ENST00000360682.6_Missense_Mutation_p.R315L|CTNND1_ENST00000529873.1_Missense_Mutation_p.R261L|CTNND1_ENST00000358694.6_Missense_Mutation_p.R315L|CTNND1_ENST00000532649.1_Missense_Mutation_p.R261L|CTNND1_ENST00000399039.4_Missense_Mutation_p.R315L|CTNND1_ENST00000526938.1_Missense_Mutation_p.R315L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	315					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCTGACCCTCGTCGGCGCCTC	0.527																																																	0													58	60	59					11																	57564452		1969	4161	6130	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.944G>T	11.37:g.57564452G>T	ENSP00000382004:p.Arg315Leu		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R315L	ENST00000399050.4	37	c.944	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675932	0.67928	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000528232;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938;ENST00000534647	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.72615	-0.29;-0.3;-0.3;-0.66;-0.29;-0.3;-0.21;-0.31;-0.67;-0.3;-0.21;-0.21;-0.29;-0.55;-0.3;-0.3;-0.3;-0.29;-0.21;-0.66;-0.31;-0.31;-0.3;-0.3;-0.21;-0.3;-0.66;2.12	5.82	5.82	0.92795	Armadillo-like helical (1);	0.158729	0.64402	D	0.000018	T	0.71005	0.3289	L	0.33485	1.01	0.44660	D	0.997642	D;D;D;D;D;P;D;D	0.57257	0.979;0.979;0.965;0.979;0.979;0.775;0.979;0.965	P;P;P;P;P;P;P;P	0.53861	0.736;0.736;0.549;0.736;0.736;0.457;0.736;0.549	T	0.63812	-0.6552	10	0.11794	T	0.64	-4.6961	19.6883	0.95987	0.0:0.0:1.0:0.0	.	315;315;315;261;261;315;315;315	O60716-3;O60716-2;O60716;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.	L	315;315;315;315;315;261;214;315;315;315;214;214;315;214;261;261;261;315;214;261;261;261;214;214;214;261;315;237	ENSP00000436543:R315L;ENSP00000434808:R315L;ENSP00000381996:R315L;ENSP00000353902:R315L;ENSP00000354907:R315L;ENSP00000436323:R261L;ENSP00000409930:R214L;ENSP00000382004:R315L;ENSP00000354785:R315L;ENSP00000354823:R315L;ENSP00000432075:R214L;ENSP00000437156:R214L;ENSP00000351527:R315L;ENSP00000434949:R214L;ENSP00000435379:R261L;ENSP00000432243:R261L;ENSP00000436744:R261L;ENSP00000413586:R315L;ENSP00000435266:R214L;ENSP00000435494:R261L;ENSP00000433276:R261L;ENSP00000433334:R261L;ENSP00000437327:R214L;ENSP00000403518:R214L;ENSP00000434017:R214L;ENSP00000435789:R261L;ENSP00000432041:R315L;ENSP00000434202:R237L	ENSP00000351527:R315L	R	+	2	0	CTNND1	57321028	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.176000	0.65026	2.747000	0.94245	0.655000	0.94253	CGT	CTNND1	-	NULL	ENSG00000198561		0.527	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0	72	0	G	NM_001331		57564452	1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	57564452	G	T	57564452	3	4	57	1	0	0	0	0	1	0	0	0	4028	1145	40	2	958	2	CTNND1	11	57564452	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1563878	57564452	77442064	250	14248											
CTSF	8722	genome.wustl.edu	37	chr11	66335085	66335085	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgggccacagtccttccGcagcagcacgtgtcttccga	7	8	10	16	3	1	0	0	0	1	0	4	1	4	0	4	1	2	3	4	1	0	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:66335085G>T	ENST00000310325.5	-	3	470	c.361C>A	c.(361-363)Cgg>Agg	p.R121R	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	121					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTCCTTCCGCAGCAGCACG	0.592																																																	0													92	94	93					11																	66335085		2200	4295	6495	SO:0001819	synonymous_variant	0			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"Cathepsins"	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.361C>A	11.37:g.66335085G>T			B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.R121	ENST00000310325.5	37	c.361	CCDS8144.1	11																																																																																			CTSF	-	NULL	ENSG00000174080		0.592	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSF	HGNC	protein_coding	OTTHUMT00000393047.1	-	0	31	0	G	NM_003793		66335085	-1	tier1	-	no_errors	ENST00000310325	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.941	T	T	66335085	G	T	66335085	2	4	57	1	0	0	0	0	0	0	0	1	4043	1086	38	2		2	CTSF	11	66335085	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8770633	66335085	68671431	251	14249											
NADSYN1	55191	genome.wustl.edu	37	chr11	71166197	71166197	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcaagatacaggcttGgaccagagctggaaatatgg	14	6	15	6	0	0	2	0	0	0	2	0	6	0	5	1	5	3	3	1	5	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:71166197G>T	ENST00000319023.2	+	2	315	c.127G>T	c.(127-129)Gga>Tga	p.G43*	RP11-660L16.2_ENST00000529369.1_RNA	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	43	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	ATACAGGCTTGGACCAGAGCT	0.463																																					Ovarian(79;763 1781 6490 50276)												0													112	106	108					11																	71166197		2200	4294	6494	SO:0001587	stop_gained	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.127G>T	11.37:g.71166197G>T	ENSP00000326424:p.Gly43*		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Nonsense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.G43*	ENST00000319023.2	37	c.127	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.026568	0.97216	.	.	ENSG00000172890	ENST00000319023	.	.	.	5.63	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.6081	12.3103	0.54925	0.0821:0.0:0.9179:0.0	.	.	.	.	X	43	.	ENSP00000326424:G43X	G	+	1	0	NADSYN1	70843845	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.670000	0.83925	1.386000	0.46466	-0.136000	0.14681	GGA	NADSYN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase	ENSG00000172890		0.463	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	-	0	35	0	G	NM_018161		71166197	1	tier1	-	no_errors	ENST00000319023	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	71166197	G	T	71166197	4	4	57	1	0	0	0	0	0	1	0	0	10176	1349	47	3	133	3	NADSYN1	11	71166197	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4831112	71166197	63840319	252	14250											
ATG16L2	89849	genome.wustl.edu	37	chr11	72533895	72533895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcattacctctcctagggGcccggacaccctaggcgatg	7	9	10	15	2	2	0	1	0	1	0	3	2	2	1	4	4	1	0	4	4	3	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:72533895G>T	ENST00000321297.5	+	7	851	c.713G>T	c.(712-714)gGc>gTc	p.G238V	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	238					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TCTCCTAGGGGCCCGGACACC	0.592																																																	0													25	28	27					11																	72533895		2171	4244	6415	SO:0001583	missense	0			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"WD repeat domain containing"	25464	protein-coding gene	gene with protein product			"ATG16 autophagy related 16-like 2 (S. cerevisiae)"			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.713G>T	11.37:g.72533895G>T	ENSP00000326340:p.Gly238Val		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Autophagy-rel_prot_16,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G238V	ENST00000321297.5	37	c.713	CCDS31634.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.40|13.40	2.224787|2.224787	0.39300|0.39300	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000541554|ENST00000321297;ENST00000538973;ENST00000541367	.|T;T;T	.|0.55588	.|0.61;0.61;0.51	5.21|5.21	-3.04|-3.04	0.05412|0.05412	.|.	.|38.028100	.|0.00751	.|N	.|0.001067	T|T	0.26846|0.26846	0.0657|0.0657	N|N	0.08118|0.08118	0|0	0.28495|0.28495	N|N	0.91429|0.91429	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.07616|0.07616	-1.0763|-1.0763	5|10	.|0.29301	.|T	.|0.29	.|.	0.2336|0.2336	0.00183|0.00183	0.352:0.1472:0.2297:0.2711|0.352:0.1472:0.2297:0.2711	.|.	.|238	.|Q8NAA4	.|A16L2_HUMAN	S|V	22|238;69;69	.|ENSP00000326340:G238V;ENSP00000441989:G69V;ENSP00000437412:G69V	.|ENSP00000326340:G238V	A|G	+|+	1|2	0|0	ATG16L2|ATG16L2	72211543|72211543	0.128000|0.128000	0.22383|0.22383	0.411000|0.411000	0.26484|0.26484	0.003000|0.003000	0.03518|0.03518	0.090000|0.090000	0.15025|0.15025	-0.322000|-0.322000	0.08615|0.08615	0.655000|0.655000	0.94253|0.94253	GCC|GGC	ATG16L2	-	NULL	ENSG00000168010		0.592	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L2	HGNC	protein_coding	OTTHUMT00000397305.1	-	0	113	0	G	NM_033388		72533895	1	tier1	-	no_errors	ENST00000321297	ensembl	human	known	74_37	missense	5.77	98	6	SNP	0.134	T	T	72533895	G	T	72533895	3	4	57	1	0	0	0	0	1	0	0	0	1093	1203	42	3	739	3	ATG16L2	11	72533895	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1367698	72533895	62472621	253	14251											
UVRAG	7405	genome.wustl.edu	37	chr11	75851874	75851874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaaaggacatcgaaaacGggccagctctgagaatgaga	17	4	12	8	2	1	3	0	2	1	3	2	7	1	4	1	2	2	1	1	2	4	0	rs147445026		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:75851874G>T	ENST00000356136.3	+	15	1758	c.1517G>T	c.(1516-1518)cGg>cTg	p.R506L	UVRAG_ENST00000531818.1_Missense_Mutation_p.R134L|UVRAG_ENST00000539288.1_Missense_Mutation_p.R134L|UVRAG_ENST00000538870.1_Missense_Mutation_p.R62L|UVRAG_ENST00000528420.1_Missense_Mutation_p.R405L|UVRAG_ENST00000532130.1_Missense_Mutation_p.R134L|UVRAG_ENST00000533454.1_Missense_Mutation_p.R134L	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	506					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CATCGAAAACGGGCCAGCTCT	0.532																																																	0													91	88	89					11																	75851874		2200	4292	6492	SO:0001583	missense	0			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"beclin 1 binding protein"	602493	"UV radiation resistance associated gene"			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1517G>T	11.37:g.75851874G>T	ENSP00000348455:p.Arg506Leu		B3KTC1|O00392	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.R506L	ENST00000356136.3	37	c.1517	CCDS8241.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179722	0.78564	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.56103	0.48	5.44	5.44	0.79542	.	0.052930	0.85682	D	0.000000	T	0.57431	0.2053	L	0.32530	0.975	0.54753	D	0.999982	D;D	0.62365	0.991;0.965	P;P	0.55615	0.78;0.468	T	0.52719	-0.8538	10	0.34782	T	0.22	-6.3756	18.6142	0.91296	0.0:0.0:1.0:0.0	.	62;506	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	L	506;405;134;134;134;134;62	ENSP00000348455:R506L	ENSP00000348455:R506L	R	+	2	0	UVRAG	75529522	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.504000	0.81646	2.717000	0.92951	0.655000	0.94253	CGG	UVRAG	-	NULL	ENSG00000198382		0.532	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UVRAG	HGNC	protein_coding	OTTHUMT00000383430.1		0	54	0	G	NM_003369		75851874	1			no_errors	ENST00000356136	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	75851874	G	T	75851874	3	4	57	1	0	0	0	0	1	0	0	0	17157	1116	39	2	1575	2	UVRAG	11	75851874	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3317979	75851874	59154642	254	14252											
ODZ4	26011	genome.wustl.edu	37	chr11	78419504	78419504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccattctgatcgatgcGtctgatcatggtgccatcca	8	12	9	12	2	3	2	1	2	2	0	6	4	5	2	3	1	2	0	3	1	0	1	rs374934640		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:78419504G>A	ENST00000278550.7	-	27	4573	c.4111C>T	c.(4111-4113)Cgc>Tgc	p.R1371C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1371					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGATCGATGCGTCTGATCATG	0.512																																																	0								G	CYS/ARG	0,4140		0,0,2070	108	105	106		4111	5.5	1	11		106	1,8417		0,1,4208	no	missense	ODZ4	NM_001098816.2	180	0,1,6278	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1371/2770	78419504	1,12557	2070	4209	6279	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4111C>T	11.37:g.78419504G>A	ENSP00000278550:p.Arg1371Cys		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1371C	ENST00000278550.7	37	c.4111	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159874	0.78226	0.0	1.19E-4	ENSG00000149256	ENST00000278550	D	0.91407	-2.84	5.52	5.52	0.82312	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95884	0.8660	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95326	0.8425	9	.	.	.	.	19.6361	0.95733	0.0:0.0:1.0:0.0	.	1371	Q6N022	TEN4_HUMAN	C	1371	ENSP00000278550:R1371C	.	R	-	1	0	ODZ4	78097152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.212000	0.51145	2.878000	0.98634	0.650000	0.86243	CGC	TENM4	-	NULL	ENSG00000149256		0.512	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	34	0	G			78419504	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	47.92	25	23	SNP	1.000	A	A	78419504	G	A	78419504	3	1	57	1	0	0	0	0	1	0	0	0	10876	1145	40	1	4230	1	ODZ4	11	78419504	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2567630	78419504	56587012	255	14253											
FDXACB1	91893	genome.wustl.edu	37	chr11	111746108	111746108	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacactagtggcagatgtGataacagacccaataattag	17	9	8	7	0	0	3	0	1	0	2	0	3	0	3	1	1	2	1	1	1	6	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:111746108G>T	ENST00000260257.4	-	5	1460	c.1413C>A	c.(1411-1413)atC>atA	p.I471I	ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Silent_p.I322I	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	471					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGGCAGATGTGATAACAGACC	0.373																																																	0													67	65	66					11																	111746108		1899	4121	6020	SO:0001819	synonymous_variant	0				CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"hypothetical protein BC006136"						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1413C>A	11.37:g.111746108G>T			A0PJW7|B4DUU2	Silent	SNP	pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd	p.I471	ENST00000260257.4	37	c.1413	CCDS44729.1	11																																																																																			FDXACB1	-	NULL	ENSG00000255561		0.373	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDXACB1	HGNC	protein_coding	OTTHUMT00000391497.1	-	0	25	0	G	NM_138378		111746108	-1	tier1	-	no_errors	ENST00000260257	ensembl	human	known	74_37	silent	57.14	9	12	SNP	0.064	T	T	111746108	G	T	111746108	2	4	57	1	0	0	0	0	0	0	0	1	5828	1280	45	3		3	FDXACB1	11	111746108	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	33326604	111746108	23260408	256	14254											
IL10RA	3587	genome.wustl.edu	37	chr11	117859096	117859096	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgacactcttctccccaGggacagagctgcccagccct	8	8	8	17	0	2	2	0	1	2	1	3	3	2	3	4	1	4	1	4	1	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:117859096G>T	ENST00000227752.3	+	2	187		c.e2-1		IL10RA_ENST00000545409.1_Splice_Site|IL10RA_ENST00000533700.1_Splice_Site|IL10RA_ENST00000541785.1_Splice_Site	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha						cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCTCCCCAGGGACAGAGCT	0.532																																																	0													106	104	105					11																	117859096		2201	4296	6497	SO:0001630	splice_region_variant	0			U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"Interleukins and interleukin receptors", "CD molecules"	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.68-1G>T	11.37:g.117859096G>T			A8K6I0|B0YJ27	Splice_Site	SNP	-	e2-1	ENST00000227752.3	37	c.68-1	CCDS8388.1	11	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928769	0.34002	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000536858	.	.	.	5.13	3.2	0.36748	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7937	0.52084	0.0:0.342:0.658:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL10RA	117364306	0.000000	0.05858	0.001000	0.08648	0.340000	0.28889	0.299000	0.19138	0.514000	0.28300	0.555000	0.69702	.	IL10RA	-	-	ENSG00000110324		0.532	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RA	HGNC	protein_coding	OTTHUMT00000390167.1	-	0	73	0	G		Intron	117859096	1	tier1	-	no_errors	ENST00000227752	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	0.002	T	T	117859096	G	T	117859096	5	4	57	1	0	0	0	0	0	0	1	0	7647	1014	35	3	73	3	IL10RA	11	117859096	Splice_Site	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6112988	117859096	17147420	257	14255											
MLL	4297	genome.wustl.edu	37	chr11	118354912	118354912	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttaggaaaaaccacctccGgtcaataagcaggagaatgc	15	6	9	11	1	1	1	1	0	0	1	2	3	2	2	4	3	3	1	4	3	6	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:118354912G>T	ENST00000389506.5	+	9	4101	c.4101G>T	c.(4099-4101)ccG>ccT	p.P1367P	KMT2A_ENST00000420751.2_3'UTR|KMT2A_ENST00000354520.4_Silent_p.P1367P|KMT2A_ENST00000534358.1_Silent_p.P1367P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1367					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AACCACCTCCGGTCAATAAGC	0.398																																																	0													101	95	97					11																	118354912		2200	4296	6496	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4101G>T	11.37:g.118354912G>T			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P1367	ENST00000389506.5	37	c.4101	CCDS31686.1	11																																																																																			KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.398	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	32	0	G	NM_005933		118354912	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.002	T	T	118354912	G	T	118354912	2	4	57	1	0	0	0	0	0	0	0	1	9658	1103	39	2		2	MLL	11	118354912	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	495816	118354912	16651604	258	14256											
TECTA	7007	genome.wustl.edu	37	chr11	121008422	121008422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagaccattccctgcaaGgatgatgagtactgcatgga	11	9	12	9	1	0	3	0	2	0	1	1	6	1	5	2	2	4	3	2	2	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:121008422G>T	ENST00000392793.1	+	11	3505	c.3234G>T	c.(3232-3234)aaG>aaT	p.K1078N	TECTA_ENST00000264037.2_Missense_Mutation_p.K1078N			O75443	TECTA_HUMAN	tectorin alpha	1078					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTCCCTGCAAGGATGATGAGT	0.572																																																	0													113	91	98					11																	121008422		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3234G>T	11.37:g.121008422G>T	ENSP00000376543:p.Lys1078Asn			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.K1078N	ENST00000392793.1	37	c.3234	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745808	0.30955	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.36520	1.25;1.25	5.23	1.87	0.25490	.	0.553796	0.20613	N	0.088923	T	0.27559	0.0677	L	0.43152	1.355	0.27858	N	0.940493	B	0.18166	0.026	B	0.15870	0.014	T	0.17531	-1.0366	10	0.23891	T	0.37	.	10.8834	0.46953	0.2981:0.0:0.7019:0.0	.	1078	O75443	TECTA_HUMAN	N	1078	ENSP00000376543:K1078N;ENSP00000264037:K1078N	ENSP00000264037:K1078N	K	+	3	2	TECTA	120513632	0.988000	0.35896	0.842000	0.33263	0.990000	0.78478	0.800000	0.27042	0.595000	0.29777	0.655000	0.94253	AAG	TECTA	-	NULL	ENSG00000109927		0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	45	0	G	NM_005422		121008422	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.909	T	T	121008422	G	T	121008422	3	4	57	1	0	0	0	0	1	0	0	0	15794	991	35	3	3272	3	TECTA	11	121008422	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2653510	121008422	13998094	259	14257											
C11orf63	79864	genome.wustl.edu	37	chr11	122756889	122756889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccatacctgggaccaggGcgccaataacaggtaaggaa	14	4	11	12	1	0	0	0	0	0	0	0	2	0	2	5	4	2	1	5	4	5	3	rs368246436		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:122756889G>T	ENST00000531316.1	+	1	424	c.332G>T	c.(331-333)gGc>gTc	p.G111V	C11orf63_ENST00000307257.6_Missense_Mutation_p.G111V|C11orf63_ENST00000227349.2_Missense_Mutation_p.G111V			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	111					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TGGGACCAGGGCGCCAATAAC	0.468																																																	0													71	74	73					11																	122756889		2202	4299	6501	SO:0001583	missense	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.332G>T	11.37:g.122756889G>T	ENSP00000431669:p.Gly111Val		A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	NULL	p.G111V	ENST00000531316.1	37	c.332	CCDS8438.1	11	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084614	0.36758	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.39406	1.08;1.08	5.1	-3.46	0.04767	.	1.043930	0.07504	N	0.907796	T	0.27098	0.0664	L	0.46741	1.465	0.09310	N	0.999994	B;B	0.20052	0.01;0.041	B;B	0.14578	0.011;0.011	T	0.30416	-0.9979	10	0.31617	T	0.26	-0.17	0.2105	0.00155	0.3228:0.2551:0.1649:0.2573	.	111;111	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	V	111	ENSP00000227349:G111V;ENSP00000431669:G111V	ENSP00000227349:G111V	G	+	2	0	C11orf63	122262099	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.421000	0.07053	-0.264000	0.09365	0.655000	0.94253	GGC	C11orf63	-	NULL	ENSG00000109944		0.468	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	-	0	34	0	G	NM_024806		122756889	1	tier1	-	no_errors	ENST00000227349	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.000	T	T	122756889	G	T	122756889	3	4	57	1	0	0	0	0	1	0	0	0	1659	1203	42	3	334	3	C11orf63	11	122756889	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1748467	122756889	12249627	260	14258											
SNX19	399979	genome.wustl.edu	37	chr11	130780017	130780017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcactgttagcgatctccgGaatggcacagagttgctgca	9	10	11	11	2	2	1	1	0	1	1	3	3	2	2	1	2	3	5	1	2	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:130780017G>T	ENST00000265909.4	-	4	2499	c.1930C>A	c.(1930-1932)Ccg>Acg	p.P644T	SNX19_ENST00000534726.1_5'Flank|SNX19_ENST00000533214.1_Missense_Mutation_p.P644T|SNX19_ENST00000528555.1_Missense_Mutation_p.P24T|SNX19_ENST00000539184.1_Missense_Mutation_p.P87T|SNX19_ENST00000530356.1_Missense_Mutation_p.P24T|SNX19_ENST00000545537.1_5'UTR|SNX19_ENST00000533318.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	644	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCGATCTCCGGAATGGCACAG	0.453																																																	0													95	91	92					11																	130780017		2201	4297	6498	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1930C>A	11.37:g.130780017G>T	ENSP00000265909:p.Pro644Thr		E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.P644T	ENST00000265909.4	37	c.1930	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098947	0.76870	.	.	ENSG00000120451	ENST00000265909;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.9	5.9	0.94986	Phox homologous domain (5);	0.046707	0.85682	D	0.000000	T	0.62841	0.2461	M	0.82923	2.615	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.74348	0.869;0.971;0.983	T	0.66324	-0.5952	10	0.72032	D	0.01	-19.3316	14.4365	0.67284	0.07:0.0:0.93:0.0	.	87;644;644	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	T	644;24;24;87;644	ENSP00000265909:P644T;ENSP00000435122:P24T;ENSP00000432307:P24T;ENSP00000443480:P87T;ENSP00000435390:P644T	ENSP00000265909:P644T	P	-	1	0	SNX19	130285227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.113000	0.50376	2.806000	0.96561	0.655000	0.94253	CCG	SNX19	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000120451		0.453	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	-	0	60	0	G	NM_014758		130780017	-1	tier1	-	no_errors	ENST00000265909	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	130780017	G	T	130780017	3	4	57	1	0	0	0	0	1	0	0	0	14935	1174	41	3	1080	3	SNX19	11	130780017	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8023128	130780017	4226499	261	14259											
VPS26B	112936	genome.wustl.edu	37	chr11	134095143	134095143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatttcctcttctacgacGgggagacggtctccgggaag	9	10	12	10	4	3	1	0	0	3	1	5	4	4	2	2	4	1	0	2	4	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr11:134095143G>T	ENST00000281187.5	+	1	605	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	NCAPD3_ENST00000534548.2_5'Flank|VPS26B_ENST00000525095.2_Missense_Mutation_p.G43W|NCAPD3_ENST00000526422.1_5'Flank	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	43					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CTTCTACGACGGGGAGACGGT	0.572																																					Colon(171;1263 1952 15904 45703 47982)												0													104	105	105					11																	134095143		2201	4297	6498	SO:0001583	missense	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.127G>T	11.37:g.134095143G>T	ENSP00000281187:p.Gly43Trp		Q96A55	Missense_Mutation	SNP	pfam_VPS26,superfamily_Ig_E-set	p.G43W	ENST00000281187.5	37	c.127	CCDS8495.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.261372	0.95368	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	T;T	0.66995	-0.24;-0.24	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91169	0.4967	10	0.87932	D	0	-17.4967	18.1052	0.89518	0.0:0.0:1.0:0.0	.	43	Q4G0F5	VP26B_HUMAN	W	43	ENSP00000281187:G43W;ENSP00000434162:G43W	ENSP00000281187:G43W	G	+	1	0	VPS26B	133600353	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.603000	0.98315	2.254000	0.74563	0.563000	0.77884	GGG	VPS26B	-	pfam_VPS26,superfamily_Ig_E-set	ENSG00000151502		0.572	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1	-	0	63	0	G	NM_052875		134095143	1	tier1	-	no_errors	ENST00000281187	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	134095143	G	T	134095143	3	4	57	1	0	0	0	0	1	0	0	0	17247	1116	39	2	129	2	VPS26B	11	134095143	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3315126	134095143	911373	262	14260											
NCAPD2	9918	genome.wustl.edu	37	chr12	6635628	6635628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggctttgtccacccaGacccactctggatcccattc	7	10	7	17	0	1	1	0	0	1	1	4	2	3	2	4	2	1	2	4	2	0	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:6635628G>T	ENST00000315579.5	+	21	3380	c.2581G>T	c.(2581-2583)Gac>Tac	p.D861Y	NCAPD2_ENST00000545962.1_Missense_Mutation_p.D816Y|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	861					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TGTCCACCCAGACCCACTCTG	0.552																																																	0													59	61	60					12																	6635628		2203	4300	6503	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.2581G>T	12.37:g.6635628G>T	ENSP00000325017:p.Asp861Tyr		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.D861Y	ENST00000315579.5	37	c.2581	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405440	0.42715	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	D;D;D	0.92099	-2.97;-2.97;-2.97	5.03	5.03	0.67393	Armadillo-type fold (1);	0.196594	0.53938	D	0.000059	D	0.91590	0.7343	M	0.71581	2.175	0.51012	D	0.999907	P;B;B	0.36199	0.543;0.274;0.408	B;B;B	0.43225	0.412;0.092;0.11	D	0.91107	0.4919	10	0.72032	D	0.01	-27.2854	7.7283	0.28773	0.0885:0.0:0.7452:0.1662	.	816;822;861	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	Y	861;733;816;733	ENSP00000325017:D861Y;ENSP00000371895:D733Y;ENSP00000444417:D816Y	ENSP00000325017:D861Y	D	+	1	0	NCAPD2	6505889	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.030000	0.49720	2.608000	0.88229	0.655000	0.94253	GAC	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.552	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0	82	0	G	NM_014865		6635628	1			no_errors	ENST00000315579	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	6635628	G	T	6635628	3	4	57	1	0	0	0	0	1	0	0	0	10244	942	33	3	2659	3	NCAPD2	12	6635628	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		6635628	127216267	263	14261											
KLRF1	51348	genome.wustl.edu	37	chr12	9994450	9994450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaataccaagggaagtgttGttattggttctctaatgaga	13	13	10	5	0	1	1	0	1	1	1	2	3	1	2	1	2	1	3	1	2	6	6	rs3052097|rs111928232		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:9994450G>A	ENST00000279544.3	+	4	441	c.377G>A	c.(376-378)tGt>tAt	p.C126Y	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.C76Y|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGGAAGTGTTGTTATTGGTTC	0.323																																																	0													142	134	136					12																	9994450		1842	4083	5925	SO:0001583	missense	0			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"Killer cell lectin-like receptors", "C-type lectin domain containing"	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.377G>A	12.37:g.9994450G>A	ENSP00000279544:p.Cys126Tyr		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C126Y	ENST00000279544.3	37	c.377	CCDS41750.1	12	.	.	.	.	.	.	.	.	.	.	-	4.237	0.042890	0.08196	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.38401	1.14;1.14	.	.	.	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.62708	0.2450	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.87578	0.998;0.983	T	0.65162	-0.6235	6	.	.	.	.	.	.	.	.	126;76	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	Y	76;126	ENSP00000322487:C76Y;ENSP00000279544:C126Y	.	C	+	2	0	KLRF1	9885717	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TGT	KLRF1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000150045		0.323	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRF1	HGNC	protein_coding	OTTHUMT00000399535.1		0	40	0	G	NM_016523		9994450	1			no_errors	ENST00000279544	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.999	A	A	9994450	G	A	9994450	3	1	57	1	0	0	0	0	1	0	0	0	8447	1377	48	3	391	3	KLRF1	12	9994450	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3358822	9994450	123857445	264	14262											
STRAP	11171	genome.wustl.edu	37	chr12	16052859	16052859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctacaagggacactttgGtcctattcactgtgtgagat	10	13	9	9	0	1	1	1	1	0	1	3	3	3	2	2	2	1	0	2	2	3	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:16052859G>T	ENST00000419869.2	+	8	1110	c.797G>T	c.(796-798)gGt>gTt	p.G266V	STRAP_ENST00000025399.6_Missense_Mutation_p.G279V|STRAP_ENST00000538352.1_Missense_Mutation_p.G172V	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	266					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GGACACTTTGGTCCTATTCAC	0.358																																																	0													108	106	107					12																	16052859		2203	4300	6503	SO:0001583	missense	0			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.797G>T	12.37:g.16052859G>T	ENSP00000392270:p.Gly266Val		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G279V	ENST00000419869.2	37	c.836	CCDS8676.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555821|4.555821	0.86231|0.86231	.|.	.|.	ENSG00000023734|ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869|ENST00000538718	T;T;T|.	0.62364|.	0.03;0.03;0.03|.	4.76|4.76	4.76|4.76	0.60689|0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81837|0.81837	0.4907|0.4907	M|M	0.83692|0.83692	2.655|2.655	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.97110|.	1.0;0.985|.	T|T	0.83251|0.83251	-0.0053|-0.0053	10|5	0.87932|.	D|.	0|.	-21.0897|-21.0897	18.3915|18.3915	0.90485|0.90485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	279;266|.	B4DNJ6;Q9Y3F4|.	.;STRAP_HUMAN|.	V|C	172;279;266|32	ENSP00000439761:G172V;ENSP00000025399:G279V;ENSP00000392270:G266V|.	ENSP00000025399:G279V|.	G|W	+|+	2|3	0|0	STRAP|STRAP	15944126|15944126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.037000|9.037000	0.93765|0.93765	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GGT|TGG	STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000023734		0.358	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1		0	80	0	G	NM_007178		16052859	1			no_errors	ENST00000025399	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	16052859	G	T	16052859	3	4	57	1	0	0	0	0	1	0	0	0	15373	1261	44	3	827	3	STRAP	12	16052859	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6058409	16052859	117799036	265	14263											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21015437	21015437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacccccatagtaccattGgggatttcatacattgatga	13	11	8	9	0	1	2	1	2	0	0	1	4	1	3	3	2	3	1	3	2	4	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:21015437G>T	ENST00000381545.3	+	7	792	c.573G>T	c.(571-573)ttG>ttT	p.L191F	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.L191F|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.L191F|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.L191F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	191					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	TAGTACCATTGGGGATTTCAT	0.383																																																	0													147	144	145					12																	21015437		2203	4300	6503	SO:0001583	missense	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.573G>T	12.37:g.21015437G>T	ENSP00000370956:p.Leu191Phe		E7EMT8|Q5JAR4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L191F	ENST00000381545.3	37	c.573	CCDS8684.1	12	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453869	0.43531	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	3.9	1.94	0.25998	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000001	T	0.60011	0.2236	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.57046	-0.7878	10	0.87932	D	0	.	5.5392	0.17028	0.175:0.0:0.6697:0.1553	.	191;191;191	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	F	191;191;191;191;15;191	ENSP00000442000:L191F;ENSP00000261196:L191F;ENSP00000370956:L191F;ENSP00000451758:L191F;ENSP00000443225:L15F;ENSP00000441269:L191F	ENSP00000441269:L191F	L	+	3	2	SLCO1B3;RP11-545J16.1	20906704	0.999000	0.42202	0.899000	0.35326	0.585000	0.36419	0.542000	0.23222	0.119000	0.18210	0.460000	0.39030	TTG	SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.383	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1	-	0	88	0	G	NM_019844		21015437	1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	21015437	G	T	21015437	3	4	57	1	0	0	0	0	1	0	0	0	14769	1339	47	3	591	3	SLCO1B3	12	21015437	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4962578	21015437	112836458	266	14264											
KIAA0528	9847	genome.wustl.edu	37	chr12	22659647	22659647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactttttaagaacataccaGgattgtggatacgatccaaa	16	11	7	7	1	0	1	0	0	0	1	1	4	1	3	2	2	4	0	2	2	6	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:22659647G>T	ENST00000333957.4	-	10	1400	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	C2CD5_ENST00000396028.2_Missense_Mutation_p.P373H|C2CD5_ENST00000536386.1_Missense_Mutation_p.P384H|C2CD5_ENST00000446597.1_Missense_Mutation_p.P382H|C2CD5_ENST00000542676.1_Missense_Mutation_p.P382H|C2CD5_ENST00000544930.1_Missense_Mutation_p.P175H|C2CD5_ENST00000545552.1_Missense_Mutation_p.P373H	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	382					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										GAACATACCAGGATTGTGGAT	0.343																																																	0													110	115	113					12																	22659647		2203	4300	6503	SO:0001583	missense	0			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"138 kDa C2 domain-containing phosphoprotein"		"KIAA0528"	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1145C>A	12.37:g.22659647G>T	ENSP00000334229:p.Pro382His		B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P382H	ENST00000333957.4	37	c.1145	CCDS31758.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339808	0.81911	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.25	4.35	0.52113	.	0.059438	0.64402	D	0.000002	T	0.68641	0.3023	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.97110	0.986;0.962;0.996;0.948;1.0;0.921	T	0.72928	-0.4143	10	0.56958	D	0.05	-23.9021	16.1191	0.81329	0.0:0.1341:0.8659:0.0	.	384;382;175;384;373;382	F5H2A1;B4DRN7;F5H3N1;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;.;K0528_HUMAN	H	382;382;384;373;382;373;175	ENSP00000334229:P382H;ENSP00000388756:P382H;ENSP00000439392:P384H;ENSP00000379345:P373H;ENSP00000441951:P382H;ENSP00000443204:P373H;ENSP00000445288:P175H	ENSP00000334229:P382H	P	-	2	0	KIAA0528	22550914	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.224000	0.95209	1.332000	0.45431	0.467000	0.42956	CCT	C2CD5	-	NULL	ENSG00000111731		0.343	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD5	HGNC	protein_coding	OTTHUMT00000402257.1	-	0	28	0	G	NM_014802		22659647	-1	tier1	-	no_errors	ENST00000333957	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	22659647	G	T	22659647	3	4	57	1	0	0	0	0	1	0	0	0	8209	1000	35	3	1921	3	KIAA0528	12	22659647	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1644210	22659647	111192248	267	14265											
TMTC1	83857	genome.wustl.edu	37	chr12	29904749	29904749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggatggcctggcagtgagGagggctgggggctcccgggc	5	5	22	9	1	0	1	0	1	0	0	1	4	1	3	2	8	0	3	2	8	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:29904749G>T	ENST00000539277.1	-	5	846	c.788C>A	c.(787-789)tCc>tAc	p.S263Y	TMTC1_ENST00000256062.5_Missense_Mutation_p.S155Y|TMTC1_ENST00000551659.1_Missense_Mutation_p.S263Y|TMTC1_ENST00000552618.1_Missense_Mutation_p.S263Y|TMTC1_ENST00000381224.2_Missense_Mutation_p.S155Y	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	263						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGGCAGTGAGGAGGGCTGGGG	0.612																																																	0													31	29	30					12																	29904749		2203	4299	6502	SO:0001583	missense	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.788C>A	12.37:g.29904749G>T	ENSP00000442046:p.Ser263Tyr		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S155Y	ENST00000539277.1	37	c.464	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839068	0.32513	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.68903	-0.36;-0.11;-0.36;-0.24;1.47	4.26	3.36	0.38483	.	0.982937	0.08312	N	0.965288	T	0.50514	0.1620	N	0.22421	0.69	0.09310	N	1	P;B	0.42649	0.786;0.013	B;B	0.37198	0.243;0.03	T	0.29243	-1.0018	9	.	.	.	-1.7058	9.507	0.39053	0.103:0.0:0.897:0.0	.	155;263	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	Y	155;263;263;263;155	ENSP00000256062:S155Y;ENSP00000448112:S263Y;ENSP00000449043:S263Y;ENSP00000442046:S263Y;ENSP00000370622:S155Y	.	S	-	2	0	TMTC1	29796016	0.991000	0.36638	0.003000	0.11579	0.176000	0.22953	3.336000	0.52113	1.083000	0.41159	0.555000	0.69702	TCC	TMTC1	-	NULL	ENSG00000133687		0.612	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1		0	63	0	G	NM_031920		29904749	-1			no_errors	ENST00000256062	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.007	T	T	29904749	G	T	29904749	3	4	57	1	0	0	0	0	1	0	0	0	16307	1174	41	3	1916	3	TMTC1	12	29904749	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7245102	29904749	103947146	268	14266											
LIMA1	51474	genome.wustl.edu	37	chr12	50615856	50615856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttaagcctgttcagcGgaacattatatttctctatt	10	17	5	9	1	4	0	2	0	2	0	5	1	4	1	1	1	3	1	1	1	5	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:50615856G>T	ENST00000341247.4	-	4	727	c.578C>A	c.(577-579)cCg>cAg	p.P193Q	LIMA1_ENST00000394943.3_Missense_Mutation_p.P193Q|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_Missense_Mutation_p.P33Q|LIMA1_ENST00000552783.1_Missense_Mutation_p.P33Q|LIMA1_ENST00000552823.1_Missense_Mutation_p.P33Q	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	193					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTGTTCAGCGGAACATTATA	0.378																																																	0													184	183	183					12																	50615856		2203	4300	6503	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.578C>A	12.37:g.50615856G>T	ENSP00000340184:p.Pro193Gln		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P193Q	ENST00000341247.4	37	c.578	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639277	0.67244	.	.	ENSG00000050405	ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D	0.90676	-2.32;-2.71;-1.97;-2.32;-2.33	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95227	0.8452	M	0.69823	2.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.988;0.944;0.998	D	0.94343	0.7572	10	0.54805	T	0.06	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	202;193;33	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	Q	33;193;193;33;33;112	ENSP00000450266:P33Q;ENSP00000378400:P193Q;ENSP00000340184:P193Q;ENSP00000448779:P33Q;ENSP00000450087:P33Q	ENSP00000340184:P193Q	P	-	2	0	LIMA1	48902123	1.000000	0.71417	0.998000	0.56505	0.658000	0.38924	6.537000	0.73847	2.941000	0.99782	0.655000	0.94253	CCG	LIMA1	-	NULL	ENSG00000050405		0.378	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2		0	55	0	G	NM_016357		50615856	-1			no_errors	ENST00000394943	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.997	T	T	50615856	G	T	50615856	3	4	57	1	0	0	0	0	1	0	0	0	8825	1116	39	2	1736	2	LIMA1	12	50615856	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	20711107	50615856	83236039	269	14267											
ESPL1	9700	genome.wustl.edu	37	chr12	53681812	53681812	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagctgaggcctggctGgcagaggagcctaagagacg	9	6	16	10	1	1	3	1	1	1	2	2	5	1	4	2	4	2	3	2	4	1	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:53681812G>T	ENST00000257934.4	+	19	4324	c.4233G>T	c.(4231-4233)ctG>ctT	p.L1411L	ESPL1_ENST00000552462.1_Silent_p.L1411L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1411					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGCCTGGCTGGCAGAGGAGC	0.597											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)												0													38	42	40					12																	53681812		2201	4297	6498	SO:0001819	synonymous_variant	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4233G>T	12.37:g.53681812G>T		994		Silent	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.L1411	ENST00000257934.4	37	c.4233	CCDS8852.1	12																																																																																			ESPL1	-	NULL	ENSG00000135476		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	94	0	G	NM_012291		53681812	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.011	T	T	53681812	G	T	53681812	2	4	57	1	0	0	0	0	0	0	0	1	5269	1335	47	3		3	ESPL1	12	53681812	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3065956	53681812	80170083	270	14268											
MARS	4141	genome.wustl.edu	37	chr12	57910324	57910324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagttggctgtagctgaggGgaaaccccctgaagccccta	10	7	12	12	0	0	2	0	2	0	0	0	3	0	3	4	3	3	4	4	3	4	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:57910324G>T	ENST00000262027.5	+	21	2797	c.2663G>T	c.(2662-2664)gGg>gTg	p.G888V	MIR616_ENST00000385293.1_RNA|RN7SL312P_ENST00000582079.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	888	WHEP-TRS.				gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GTAGCTGAGGGGAAACCCCCT	0.433																																																	0													56	55	55					12																	57910324		2203	4300	6503	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2663G>T	12.37:g.57910324G>T	ENSP00000262027:p.Gly888Val		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.G888V	ENST00000262027.5	37	c.2663	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510943	0.64522	.	.	ENSG00000166986	ENST00000262027;ENST00000552914	T;T	0.51071	0.72;0.72	5.36	5.36	0.76844	WHEP-TRS (2);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69676	-0.5081	10	0.20046	T	0.44	-13.1814	18.2434	0.89977	0.0:0.0:1.0:0.0	.	888	P56192	SYMC_HUMAN	V	888;207	ENSP00000262027:G888V;ENSP00000449787:G207V	ENSP00000262027:G888V	G	+	2	0	MARS	56196591	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.102000	0.77005	2.688000	0.91661	0.561000	0.74099	GGG	MARS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000166986		0.433	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	-	0	47	0	G	NM_004990		57910324	1	tier1	-	no_errors	ENST00000262027	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	57910324	G	T	57910324	3	4	57	1	0	0	0	0	1	0	0	0	9354	1232	43	3	2745	3	MARS	12	57910324	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4228512	57910324	75941571	271	14269											
PTPRR	5801	genome.wustl.edu	37	chr12	71139719	71139719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaacattcagtacctttgGggcctgctcaggttggacca	9	10	11	11	0	2	0	2	0	0	0	2	2	2	1	3	4	3	3	3	4	2	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:71139719G>T	ENST00000283228.2	-	6	1338	c.886C>A	c.(886-888)Cca>Aca	p.P296T	PTPRR_ENST00000440835.2_Missense_Mutation_p.P51T|PTPRR_ENST00000378778.1_Missense_Mutation_p.P90T|PTPRR_ENST00000549308.1_Missense_Mutation_p.P51T|PTPRR_ENST00000342084.4_Missense_Mutation_p.P184T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	296					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGTACCTTTGGGGCCTGCTCA	0.522																																																	0													202	152	169					12																	71139719		2203	4300	6503	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.886C>A	12.37:g.71139719G>T	ENSP00000283228:p.Pro296Thr		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P296T	ENST00000283228.2	37	c.886	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118526	0.56505	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	5.21	5.21	0.72293	.	0.000000	0.52532	D	0.000070	T	0.53158	0.1779	M	0.62723	1.935	0.58432	D	0.999995	P;P;D;B	0.59767	0.682;0.585;0.986;0.449	B;P;P;B	0.56088	0.115;0.475;0.791;0.283	T	0.54173	-0.8333	10	0.51188	T	0.08	-10.3547	18.7735	0.91901	0.0:0.0:1.0:0.0	.	145;184;90;296	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	T	51;296;90;184;51;51	ENSP00000391750:P51T;ENSP00000283228:P296T;ENSP00000368054:P90T;ENSP00000339605:P184T;ENSP00000446943:P51T;ENSP00000449616:P51T	ENSP00000283228:P296T	P	-	1	0	PTPRR	69425986	1.000000	0.71417	0.242000	0.24170	0.962000	0.63368	7.159000	0.77483	2.426000	0.82243	0.655000	0.94253	CCA	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.522	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	-	0	58	0	G	NM_002849		71139719	-1	tier1	-	no_errors	ENST00000283228	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.964	T	T	71139719	G	T	71139719	3	4	57	1	0	0	0	0	1	0	0	0	12855	1232	43	3	1123	3	PTPRR	12	71139719	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13229395	71139719	62712176	272	14270											
ALDH1L2	160428	genome.wustl.edu	37	chr12	105425678	105425678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcagtggatctgtcaagtGgatcaccaattttcatcttt	10	15	8	8	0	6	0	4	0	2	0	6	3	6	2	1	2	0	0	1	2	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:105425678G>T	ENST00000258494.9	-	20	2419	c.2279C>A	c.(2278-2280)cCa>cAa	p.P760Q	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	760	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCTGTCAAGTGGATCACCAAT	0.398																																																	0													197	198	198					12																	105425678		2203	4300	6503	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2279C>A	12.37:g.105425678G>T	ENSP00000258494:p.Pro760Gln		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.P760Q	ENST00000258494.9	37	c.2279	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824371	0.90955	.	.	ENSG00000136010	ENST00000258494	T	0.80738	-1.41	5.45	5.45	0.79879	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.92277	0.7550	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93410	0.6768	10	0.87932	D	0	.	19.6632	0.95882	0.0:0.0:1.0:0.0	.	760	Q3SY69	AL1L2_HUMAN	Q	760	ENSP00000258494:P760Q	ENSP00000258494:P760Q	P	-	2	0	ALDH1L2	103949808	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	9.776000	0.99001	2.716000	0.92895	0.655000	0.94253	CCA	ALDH1L2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000136010		0.398	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1		0	70	0	G	XM_090294		105425678	-1			no_errors	ENST00000258494	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	105425678	G	T	105425678	3	4	57	1	0	0	0	0	1	0	0	0	495	1348	47	3	508	3	ALDH1L2	12	105425678	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	34285959	105425678	28426217	273	14271											
BRAP	80724	genome.wustl.edu	37	chr12	112120998	112120998	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatctgtcatttctcgacGgccgagatgctgatggataa	10	11	10	10	3	3	2	1	1	2	1	4	5	3	3	1	2	1	1	1	2	1	2	rs200187507		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:112120998G>T	ENST00000313698.4	+	0	0				ACAD10_ENST00000455480.2_5'Flank|ACAD10_ENST00000549590.1_5'Flank|ACAD10_ENST00000392636.2_5'Flank|BRAP_ENST00000327551.6_Missense_Mutation_p.R36S|BRAP_ENST00000419234.4_Missense_Mutation_p.R66S|BRAP_ENST00000539060.1_5'Flank	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10							mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATTTCTCGACGGCCGAGATGC	0.458																																																	0													244	189	208					12																	112120998		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"acyl-Coenzyme A dehydrogenase family, member 10"			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602		12.37:g.112120998G>T	Exception_encountered		G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.R66S	ENST00000313698.4	37	c.196	CCDS31903.1	12	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412009	0.42817	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	T;T	0.42131	0.98;0.99	5.57	4.67	0.58626	.	0.060264	0.64402	D	0.000001	T	0.32315	0.0825	L	0.41573	1.285	0.80722	D	1	B	0.21753	0.06	B	0.13407	0.009	T	0.08207	-1.0733	10	0.23302	T	0.38	-2.7993	11.4413	0.50099	0.0:0.1363:0.7221:0.1417	.	66	Q7Z569	BRAP_HUMAN	S	66;36	ENSP00000403524:R66S;ENSP00000330813:R36S	ENSP00000330813:R36S	R	-	1	0	BRAP	110605381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.425000	0.52771	1.328000	0.45358	0.591000	0.81541	CGT	BRAP	-	NULL	ENSG00000089234		0.458	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000368307.1	-	0	76	0	G	NM_025247		112120998	-1	tier1	rs200187507	no_errors	ENST00000419234	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	112120998	G	T	112120998	1	4	57	0	1	0	0	0	0	0	0	0	1501	1116	39	2		2	BRAP	12	112120998	5'Flank	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6695320	112120998	21730897	274	14272											
P2RX7	5027	genome.wustl.edu	37	chr12	121603953	121603953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactaggagacatcttccGagaaacaggcgataattttt	13	10	9	9	3	1	2	0	0	1	2	2	6	2	2	2	2	1	0	2	2	3	5	rs200108827		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:121603953G>T	ENST00000546057.1	+	7	850	c.707G>T	c.(706-708)cGa>cTa	p.R236L	P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.R146L|P2RX7_ENST00000328963.5_Missense_Mutation_p.R66L|P2RX7_ENST00000377162.2_Intron	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	236					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACATCTTCCGAGAAACAGGC	0.468																																																	0													250	246	247					12																	121603953		2203	4300	6503	SO:0001583	missense	0			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.707G>T	12.37:g.121603953G>T	ENSP00000442349:p.Arg236Leu		A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R236L	ENST00000546057.1	37	c.707	CCDS9213.1	12	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232806	0.58777	.	.	ENSG00000089041	ENST00000546057;ENST00000328963;ENST00000535250	T;T;T	0.04551	3.6;3.6;3.6	5.28	-5.06	0.02946	.	0.767566	0.11554	N	0.552459	T	0.09468	0.0233	M	0.65975	2.015	0.50632	D	0.99988	B;P;P	0.39696	0.366;0.558;0.683	B;B;P	0.45856	0.062;0.198;0.495	T	0.20174	-1.0283	10	0.66056	D	0.02	.	13.2373	0.59976	0.7145:0.0:0.2855:0.0	.	66;146;236	F8W951;F5H7E8;Q99572	.;.;P2RX7_HUMAN	L	236;66;146	ENSP00000442349:R236L;ENSP00000330696:R66L;ENSP00000442572:R146L	ENSP00000330696:R66L	R	+	2	0	P2RX7	120088336	0.034000	0.19679	0.552000	0.28243	0.994000	0.84299	-0.561000	0.05957	-0.923000	0.03785	0.563000	0.77884	CGA	P2RX7	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000089041		0.468	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1	-	0	42	0	G	NM_002562		121603953	1	tier1	-	no_errors	ENST00000546057	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.617	T	T	121603953	G	T	121603953	3	4	57	1	0	0	0	0	1	0	0	0	11384	1058	37	2	733	2	P2RX7	12	121603953	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9482955	121603953	12247942	275	14273											
STX2	2054	genome.wustl.edu	37	chr12	131276465	131276465	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaggacaatgttgttgctaGgataattccaaggatcacaa	14	11	9	7	0	1	0	1	0	0	0	2	3	2	3	1	3	1	3	1	3	6	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:131276465G>T	ENST00000392373.2	-	0	1064				STX2_ENST00000261653.6_Missense_Mutation_p.L282I	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2						acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GTTGTTGCTAGGATAATTCCA	0.348																																																	0													131	117	122					12																	131276465		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.*103C>A	12.37:g.131276465G>T			Q86VW8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L282I	ENST00000392373.2	37	c.844	CCDS9270.1	12	.	.	.	.	.	.	.	.	.	.	G	8.965	0.971473	0.18736	.	.	ENSG00000111450	ENST00000261653	T	0.48522	0.81	5.34	4.42	0.53409	.	.	.	.	.	T	0.33876	0.0878	.	.	.	0.80722	D	1	P	0.49961	0.93	P	0.49085	0.6	T	0.34254	-0.9836	8	0.02654	T	1	.	8.5042	0.33177	0.0802:0.1558:0.764:0.0	.	282	P32856-2	.	I	282	ENSP00000261653:L282I	ENSP00000261653:L282I	L	-	1	2	STX2	129842418	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.053000	0.49901	1.194000	0.43101	0.655000	0.94253	CTA	STX2	-	NULL	ENSG00000111450		0.348	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2	-	0	43	0	G	NM_194356		131276465	-1	tier1	-	no_errors	ENST00000261653	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	131276465	G	T	131276465	1	4	57	0	1	0	0	0	0	0	0	0	15392	991	35	3		3	STX2	12	131276465	3'UTR	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9672512	131276465	2575430	276	14274											
ANKLE2	23141	genome.wustl.edu	37	chr12	133306306	133306306	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggttccctggtgacctcGagctgatcctcgtgcctggg	3	10	14	14	3	0	2	0	2	0	0	4	3	2	2	5	3	2	2	5	3	0	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr12:133306306G>T	ENST00000357997.5	-	11	2531	c.2442C>A	c.(2440-2442)ctC>ctA	p.L814L	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000539605.1_Silent_p.L752L|ANKLE2_ENST00000542282.1_Silent_p.L169L|ANKLE2_ENST00000542657.1_Silent_p.L169L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	814					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGTGACCTCGAGCTGATCCT	0.592																																																	0													81	87	85					12																	133306306		2068	4195	6263	SO:0001819	synonymous_variant	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2442C>A	12.37:g.133306306G>T			A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.L814	ENST00000357997.5	37	c.2442	CCDS41869.1	12																																																																																			ANKLE2	-	NULL	ENSG00000176915		0.592	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1		0	64	0	G			133306306	-1			no_errors	ENST00000357997	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.000	T	T	133306306	G	T	133306306	2	4	57	1	0	0	0	0	0	0	0	1	633	1045	37	2		2	ANKLE2	12	133306306	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2029841	133306306	545589	277	14275											
SGCG	6445	genome.wustl.edu	37	chr13	23808769	23808769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaatgggccacttgtGtgtaacaaaagatggactgc	12	8	14	7	0	0	1	0	0	0	1	0	3	0	3	1	4	2	2	1	4	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:23808769G>T	ENST00000218867.3	+	3	339	c.215G>T	c.(214-216)tGt>tTt	p.C72F	SGCG_ENST00000537476.1_Missense_Mutation_p.C72F|SGCG_ENST00000545013.1_Missense_Mutation_p.C72F	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	72					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GGCCACTTGTGTGTAACAAAA	0.353																																																	0													97	100	99					13																	23808769		2203	4300	6503	SO:0001583	missense	0			U34976	CCDS9299.1	13q12-q13	2014-09-17	2002-08-29		ENSG00000102683	ENSG00000102683			10809	protein-coding gene	gene with protein product	"Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan"	608896	"sarcoglycan, gamma (35kD dystrophin-associated glycoprotein)"	DMDA1, MAM, LGMD2C		8968757	Standard	NM_000231		Approved	SCARMD2, DAGA4, SCG3, DMDA, TYPE, A4, MGC130048	uc001uom.2	Q13326	OTTHUMG00000016563	ENST00000218867.3:c.215G>T	13.37:g.23808769G>T	ENSP00000218867:p.Cys72Phe		Q32M32|Q5T9J6	Missense_Mutation	SNP	pfam_Sarcoglycan	p.C72F	ENST00000218867.3	37	c.215	CCDS9299.1	13	.	.	.	.	.	.	.	.	.	.	G	5.217	0.225559	0.09916	.	.	ENSG00000102683	ENST00000218867;ENST00000537476;ENST00000545013	D;D;D	0.94376	-3.41;-3.41;-3.41	5.55	-8.12	0.01078	.	0.439864	0.29172	N	0.012927	T	0.74635	0.3742	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62525	-0.6836	10	0.87932	D	0	-2.3936	5.4927	0.16785	0.4328:0.0:0.2915:0.2758	.	72	Q13326	SGCG_HUMAN	F	72	ENSP00000218867:C72F;ENSP00000444100:C72F;ENSP00000442232:C72F	ENSP00000218867:C72F	C	+	2	0	SGCG	22706769	0.006000	0.16342	0.003000	0.11579	0.314000	0.28054	-0.708000	0.05035	-2.488000	0.00518	-0.482000	0.04802	TGT	SGCG	-	pfam_Sarcoglycan	ENSG00000102683		0.353	SGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCG	HGNC	protein_coding	OTTHUMT00000044151.1	-	0	49	0	G	NM_000231		23808769	1	tier1	-	no_errors	ENST00000218867	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.175	T	T	23808769	G	T	23808769	3	4	57	1	0	0	0	0	1	0	0	0	14248	1377	48	3	221	3	SGCG	13	23808769	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		23808769	91361109	278	14276											
PABPC3	5042	genome.wustl.edu	37	chr13	25672221	25672221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaacagtgctaccggtgttCcaactgtttaaaattgatca	12	14	7	8	1	1	1	1	1	0	0	2	1	2	1	2	1	4	3	2	1	5	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:25672221C>A	ENST00000281589.3	+	1	1922	c.1885C>A	c.(1885-1887)Cca>Aca	p.P629T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	629					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.P629T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TACCGGTGTTCCAACTGTTTA	0.398																																																	1	Substitution - Missense(1)	lung(1)											89	96	93					13																	25672221		2203	4298	6501	SO:0001583	missense	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1885C>A	13.37:g.25672221C>A	ENSP00000281589:p.Pro629Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.P629T	ENST00000281589.3	37	c.1885	CCDS9311.1	13	.	.	.	.	.	.	.	.	.	.	C	11.92	1.782714	0.31502	.	.	ENSG00000151846	ENST00000281589	T	0.27557	1.66	0.875	0.875	0.19130	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.144057	0.30185	U	0.010220	T	0.25382	0.0617	M	0.62723	1.935	0.49915	D	0.999832	B	0.02656	0.0	B	0.04013	0.001	T	0.06899	-1.0801	10	0.25106	T	0.35	.	7.5489	0.27783	0.0:1.0:0.0:0.0	.	629	Q9H361	PABP3_HUMAN	T	629	ENSP00000281589:P629T	ENSP00000281589:P629T	P	+	1	0	PABPC3	24570221	0.999000	0.42202	0.914000	0.36105	0.281000	0.26958	0.790000	0.26900	0.759000	0.33084	0.313000	0.20887	CCA	PABPC3	-	superfamily_PABP_HYD	ENSG00000151846		0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2		0	55	0	C	NM_030979		25672221	1			no_errors	ENST00000281589	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A	A	25672221	C	A	25672221	3	1	57	1	0	0	0	0	1	0	0	0	11404	855	30	3	1887	3	PABPC3	13	25672221	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1863452	25672221	89497657	279	14277											
FLT3	2322	genome.wustl.edu	37	chr13	28623855	28623855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgcaccttatccataaggGttcccctactttaagaaata	12	14	5	10	0	0	1	0	0	0	1	2	1	2	1	4	1	2	2	4	1	6	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:28623855G>T	ENST00000241453.7	-	7	880	c.799C>A	c.(799-801)Ccc>Acc	p.P267T	FLT3_ENST00000537084.1_Missense_Mutation_p.P267T|FLT3_ENST00000380982.4_Missense_Mutation_p.P267T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	267	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCATAAGGGTTCCCCTACT	0.398			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													121	113	116					13																	28623855		2203	4300	6503	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.799C>A	13.37:g.28623855G>T	ENSP00000241453:p.Pro267Thr		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P267T	ENST00000241453.7	37	c.799	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128141	0.77549	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.16597	2.33;2.33;2.33	5.74	5.74	0.90152	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.28599	0.0708	L	0.27053	0.805	0.47123	D	0.999322	D;D	0.76494	0.987;0.999	P;D	0.70935	0.801;0.971	T	0.01492	-1.1341	10	0.19147	T	0.46	.	18.4627	0.90745	0.0:0.0:1.0:0.0	.	267;267	P36888-2;P36888	.;FLT3_HUMAN	T	267	ENSP00000241453:P267T;ENSP00000370369:P267T;ENSP00000438139:P267T	ENSP00000241453:P267T	P	-	1	0	FLT3	27521855	1.000000	0.71417	0.902000	0.35471	0.918000	0.54935	6.013000	0.70776	2.873000	0.98535	0.561000	0.74099	CCC	FLT3	-	pfam_Immunoglobulin,pfscan_Ig-like_dom	ENSG00000122025		0.398	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0	26	0	G			28623855	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.974	T	T	28623855	G	T	28623855	3	4	57	1	0	0	0	0	1	0	0	0	5964	1261	44	3	2254	3	FLT3	13	28623855	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2951634	28623855	86546023	280	14278											
RXFP2	122042	genome.wustl.edu	37	chr13	32356836	32356836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcctagaaatcaaattgGttttgttccagagaagacat	13	13	8	7	0	2	3	1	0	1	3	3	4	3	3	2	1	1	2	2	1	4	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:32356836G>T	ENST00000298386.2	+	11	952	c.881G>T	c.(880-882)gGt>gTt	p.G294V	RXFP2_ENST00000380314.1_Intron	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	294					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATCAAATTGGTTTTGTTCCA	0.388																																																	0													82	80	80					13																	32356836		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.881G>T	13.37:g.32356836G>T	ENSP00000298386:p.Gly294Val		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.G294V	ENST00000298386.2	37	c.881	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	10.95	1.494376	0.26774	.	.	ENSG00000133105	ENST00000298386	T	0.57273	0.41	5.6	1.68	0.24146	.	0.571237	0.19519	N	0.112325	T	0.36826	0.0981	N	0.17345	0.48	0.80722	D	1	B	0.19583	0.037	B	0.34346	0.18	T	0.07693	-1.0759	10	0.32370	T	0.25	.	7.9229	0.29857	0.6665:0.0:0.3335:0.0	.	294	Q8WXD0	RXFP2_HUMAN	V	294	ENSP00000298386:G294V	ENSP00000298386:G294V	G	+	2	0	RXFP2	31254836	0.961000	0.32948	1.000000	0.80357	0.995000	0.86356	1.005000	0.29834	0.101000	0.17610	-0.290000	0.09829	GGT	RXFP2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133105		0.388	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0	36	0	G	NM_130806		32356836	1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	32356836	G	T	32356836	3	4	57	1	0	0	0	0	1	0	0	0	13805	1261	44	3	923	3	RXFP2	13	32356836	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3732981	32356836	82813042	281	14279											
NBEA	26960	genome.wustl.edu	37	chr13	36167537	36167537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatcgaaccttctcatccGttgcaaggtcttggagaact	10	11	9	11	2	2	2	1	0	2	2	5	4	3	2	2	2	3	2	2	2	3	3	rs116439886	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:36167537G>T	ENST00000400445.3	+	47	7783	c.7249G>T	c.(7249-7251)Gtt>Ttt	p.V2417F	NBEA_ENST00000310336.4_Missense_Mutation_p.V2417F|NBEA_ENST00000540320.1_Missense_Mutation_p.V2417F|NBEA_ENST00000537702.1_Missense_Mutation_p.V210F|NBEA_ENST00000379922.3_5'UTR|NBEA_ENST00000379939.2_Missense_Mutation_p.V2414F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2417	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTCTCATCCGTTGCAAGGTC	0.338																																																	0													141	128	132					13																	36167537		1838	4085	5923	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7249G>T	13.37:g.36167537G>T	ENSP00000383295:p.Val2417Phe		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.V2417F	ENST00000400445.3	37	c.7249	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594486	0.66219	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.78	3.94	0.45596	BEACH domain (4);	0.161006	0.53938	D	0.000042	T	0.74581	0.3735	M	0.76938	2.355	0.49213	D	0.999767	P;B	0.46706	0.883;0.388	P;B	0.52881	0.712;0.139	T	0.75357	-0.3346	10	0.87932	D	0	.	9.5235	0.39149	0.184:0.0:0.816:0.0	.	2417;2414	Q8NFP9;Q5T321	NBEA_HUMAN;.	F	2417;2417;2414;2417;1044;210;210	ENSP00000440951:V2417F;ENSP00000383295:V2417F;ENSP00000369271:V2414F;ENSP00000308534:V2417F;ENSP00000440233:V210F	ENSP00000308534:V2417F	V	+	1	0	NBEA	35065537	1.000000	0.71417	0.018000	0.16275	0.933000	0.57130	3.580000	0.53907	0.673000	0.31224	0.557000	0.71058	GTT	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding			0	66	0	G	NM_015678		36167537	1			no_errors	ENST00000310336	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.938	T	T	36167537	G	T	36167537	3	4	57	1	0	0	0	0	1	0	0	0	10225	1145	40	2	7435	2	NBEA	13	36167537	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3810701	36167537	79002341	282	14280											
C13orf36	400120	genome.wustl.edu	37	chr13	37269257	37269257	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggattttcgggaagtgtGgagaatggaacttttcttga	10	14	13	4	1	2	2	1	1	1	1	3	6	2	5	0	4	1	0	0	4	3	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:37269257G>C	ENST00000315190.3	+	2	488	c.42G>C	c.(40-42)gtG>gtC	p.V14V		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	14						integral component of membrane (GO:0016021)											CGGGAAGTGTGGAGAATGGAA	0.468																																																	0													153	140	144					13																	37269257		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 36"	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.42G>C	13.37:g.37269257G>C			Q8N469	Silent	SNP	NULL	p.V14	ENST00000315190.3	37	c.42	CCDS9358.1	13																																																																																			SERTM1	-	NULL	ENSG00000180440		0.468	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTM1	HGNC	protein_coding	OTTHUMT00000044518.2		0	41	0	G	NM_203451		37269257	1			no_errors	ENST00000315190	ensembl	human	known	74_37	silent	16.00	21	4	SNP	1.000	C	C	37269257	G	C	37269257	2	2	57	1	0	0	0	0	0	0	0	1	1735	1335	47	5		5	C13orf36	13	37269257	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1101720	37269257	77900621	283	14281											
ZC3H13	23091	genome.wustl.edu	37	chr13	46538102	46538102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaattttaagagtgcaGccccaggctctcgtggttct	7	13	12	9	1	2	2	0	1	2	1	3	2	2	2	2	2	2	3	2	2	2	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:46538102G>T	ENST00000242848.4	-	17	4895	c.4547C>A	c.(4546-4548)gCt>gAt	p.A1516D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.A1517D|ZC3H13_ENST00000378921.2_Missense_Mutation_p.A472D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1516							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TAAGAGTGCAGCCCCAGGCTC	0.403																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													76	76	76					13																	46538102		2203	4300	6503	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.4547C>A	13.37:g.46538102G>T	ENSP00000242848:p.Ala1516Asp		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A1516D	ENST00000242848.4	37	c.4547		13	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065579	0.76187	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.56611	2.05;0.45;0.99	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000019	T	0.71584	0.3357	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.72567	-0.4254	10	0.87932	D	0	.	19.8984	0.96975	0.0:0.0:1.0:0.0	.	1516;1517;101	Q5T200;Q5T200-2;B3KMG8	ZC3HD_HUMAN;.;.	D	1516;472;1517	ENSP00000242848:A1516D;ENSP00000368201:A472D;ENSP00000282007:A1517D	ENSP00000242848:A1516D	A	-	2	0	ZC3H13	45436103	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	GCT	ZC3H13	-	NULL	ENSG00000123200		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0	33	0	G	NM_015070		46538102	-1			no_errors	ENST00000242848	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	46538102	G	T	46538102	3	4	57	1	0	0	0	0	1	0	0	0	17613	971	34	3	148	3	ZC3H13	13	46538102	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9268845	46538102	68631776	284	14282											
PCDH17	27253	genome.wustl.edu	37	chr13	58207353	58207353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgagcctccacgttccGccaccgtacagatcaacgtg	8	7	11	15	5	1	1	1	0	0	1	3	2	3	1	5	1	3	2	5	1	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr13:58207353G>A	ENST00000377918.3	+	1	699	c.673G>A	c.(673-675)Gcc>Acc	p.A225T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCACGTTCCGCCACCGTACA	0.597																																					Melanoma(72;952 1291 1619 12849 33676)												0													53	47	49					13																	58207353		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.673G>A	13.37:g.58207353G>A	ENSP00000367151:p.Ala225Thr		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A225T	ENST00000377918.3	37	c.673	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974255	0.74246	.	.	ENSG00000118946	ENST00000377918	T	0.51071	0.72	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.101519	0.64402	D	0.000002	T	0.41743	0.1172	N	0.20530	0.585	0.53688	D	0.999976	P;P	0.51653	0.947;0.908	P;P	0.47864	0.559;0.466	T	0.21177	-1.0253	9	.	.	.	.	18.2082	0.89861	0.0:0.0:1.0:0.0	.	225;225	O14917-2;O14917	.;PCD17_HUMAN	T	225	ENSP00000367151:A225T	.	A	+	1	0	PCDH17	57105354	1.000000	0.71417	0.973000	0.42090	0.863000	0.49368	9.657000	0.98554	2.558000	0.86282	0.650000	0.86243	GCC	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.597	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	37	0	G	NM_001040429		58207353	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	A	A	58207353	G	A	58207353	3	1	57	1	0	0	0	0	1	0	0	0	11551	1087	38	1	675	1	PCDH17	13	58207353	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11669251	58207353	56962525	285	14283											
OR11H4	390442	genome.wustl.edu	37	chr14	20711654	20711654	+	Frame_Shift_Del	DEL	T	T	-																															tatcctgttactaacagctgTttttcaggtcccttctgcag																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:20711654delT	ENST00000315409.2	+	1	757	c.704delT	c.(703-705)gttfs	p.V235fs		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTAACAGCTGTTTTTCAGGTC	0.423																																																	0													239	231	234					14																	20711654		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.704delT	14.37:g.20711654delT	ENSP00000318997:p.Val235fs		B2RNQ4|Q6IF07	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q237fs	ENST00000315409.2	37	c.704	CCDS32034.1	14																																																																																			OR11H4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176198		0.423	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H4	HGNC	protein_coding	OTTHUMT00000410678.1		0	90	0	T			20711654	1	tier1		no_errors	ENST00000315409	ensembl	human	known	74_37	frame_shift_del	26.97	65	24	DEL	1.000	-	-	20711654	T	-	20711654	7	5	57	1	0	1	0	1	0	0	0	0	10967	1725	60	0	706	0	OR11H4	14	20711654	Frame_Shift_Del	DEL	T	TCGA-L5-A4OH-01A-11D-A27G-09		20711654	86637886	286	14284											
MMP14	4323	genome.wustl.edu	37	chr14	23312566	23312566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcacccttttaccagtgGatggacacggagaattttgt	10	12	11	8	1	0	1	0	0	0	1	0	4	0	3	2	4	1	1	2	4	2	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:23312566G>T	ENST00000311852.6	+	5	1050	c.789G>T	c.(787-789)tgG>tgT	p.W263C	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	263					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TTTACCAGTGGATGGACACGG	0.592																																																	0													112	109	110					14																	23312566		2203	4300	6503	SO:0001583	missense	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.789G>T	14.37:g.23312566G>T	ENSP00000308208:p.Trp263Cys		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.W263C	ENST00000311852.6	37	c.789	CCDS9577.1	14	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677650	0.68042	.	.	ENSG00000157227	ENST00000311852	T	0.20463	2.07	5.54	4.64	0.57946	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.45396	-0.9264	10	0.44086	T	0.13	.	15.3961	0.74794	0.0:0.1401:0.8599:0.0	.	263	P50281	MMP14_HUMAN	C	263	ENSP00000308208:W263C	ENSP00000308208:W263C	W	+	3	0	MMP14	22382406	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.642000	0.74329	1.331000	0.45412	0.563000	0.77884	TGG	MMP14	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000157227		0.592	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	-	0	53	0	G	NM_004995		23312566	1	tier1	-	no_errors	ENST00000311852	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	23312566	G	T	23312566	3	4	57	1	0	0	0	0	1	0	0	0	9691	1183	41	3	807	3	MMP14	14	23312566	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2600912	23312566	84036974	287	14285											
PRKD1	5587	genome.wustl.edu	37	chr14	30066865	30066865	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgattgtagcccttgttccTtaggacctcaggagccaggt	7	11	12	11	1	1	0	1	0	0	0	2	3	2	2	4	3	2	2	4	3	2	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:30066865T>G	ENST00000331968.5	-	16	2495	c.2266A>C	c.(2266-2268)Agg>Cgg	p.R756R	PRKD1_ENST00000415220.2_Silent_p.R764R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCCTTGTTCCTTAGGACCTCA	0.488																																																	0													124	118	120					14																	30066865		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2266A>C	14.37:g.30066865T>G			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R756	ENST00000331968.5	37	c.2266	CCDS9637.1	14																																																																																			PRKD1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184304		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0	67	0	T	NM_002742		30066865	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	silent	46.34	22	19	SNP	0.997	G	G	30066865	T	G	30066865	2	3	57	1	0	0	0	0	0	0	0	1	12560	1608	56	4		4	PRKD1	14	30066865	Silent	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	6754299	30066865	77282675	288	14286											
G2E3	55632	genome.wustl.edu	37	chr14	31058620	31058622	+	In_Frame_Del	DEL	AAG	AAG	-																															tggaatttggcagagaggcaAagaagaagaaggagtttatg																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:31058620_31058622delAAG	ENST00000206595.6	+	4	321_323	c.167_169delAAG	c.(166-171)aaagaa>aaa	p.E59del	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_In_Frame_Del_p.E13del|G2E3_ENST00000553504.1_In_Frame_Del_p.E89del	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	59					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K56fs*18(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CAGAGAGGCAAAGAAGAAGAAGG	0.296																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001651	inframe_deletion	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.167_169delAAG	14.37:g.31058629_31058631delAAG	ENSP00000206595:p.Glu59del		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	In_Frame_Del	DEL	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.E59in_frame_del	ENST00000206595.6	37	c.167_169	CCDS9638.1	14																																																																																			G2E3	-	NULL	ENSG00000092140		0.296	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0	43	0	AAG	NM_017769		31058622	1	tier1		no_errors	ENST00000206595	ensembl	human	known	74_37	in_frame_del	5.13	37	2	DEL	1.000:1.000:1.000	-	-	31058622	AAG	-	31058620	7	5	57	1	0	1	0	1	0	0	0	0	6164	14	1	0	177	0	G2E3	14	31058620	In_Frame_Del	DEL	AAG	TCGA-L5-A4OH-01A-11D-A27G-09	991755	31058620	76290920	289	14287											
CTAGE5	4253	genome.wustl.edu	37	chr14	39790261	39790261	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagggggaggaggaagagGtatattgtttaaacatcttt	12	12	13	4	0	1	1	0	0	1	1	2	4	2	4	1	5	1	2	1	5	5	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:39790261G>T	ENST00000280083.3	+	19	1986		c.e19+1		RP11-407N17.3_ENST00000553728.1_Splice_Site|CTAGE5_ENST00000396158.2_Splice_Site|CTAGE5_ENST00000341502.5_Splice_Site|CTAGE5_ENST00000556148.1_Splice_Site|CTAGE5_ENST00000396165.4_Splice_Site|CTAGE5_ENST00000341749.3_Splice_Site|CTAGE5_ENST00000553352.1_Splice_Site|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000557038.1_Splice_Site|RP11-407N17.3_ENST00000603904.1_Splice_Site			O15320	CTGE5_HUMAN	CTAGE family, member 5						positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		GGAGGAAGAGGTATATTGTTT	0.373																																																	0													47	48	48					14																	39790261		2203	4300	6503	SO:0001630	splice_region_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1672+1G>T	14.37:g.39790261G>T			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Splice_Site	SNP	-	e19+1	ENST00000280083.3	37	c.1687+1	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863461	0.71949	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000553352	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5737	0.91147	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTAGE5;RP11-407N17.3	38860012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.109000	0.77062	2.824000	0.97209	0.655000	0.94253	.	CTAGE5	-	-	ENSG00000150527		0.373	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2		0	56	0	G	NM_005930	Intron	39790261	1			no_errors	ENST00000396158	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	T	T	39790261	G	T	39790261	5	4	57	1	0	0	0	0	0	0	1	0	4003	1275	44	3	1778	3	CTAGE5	14	39790261	Splice_Site	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	8731641	39790261	67559279	290	14288											
MUDENG	55745	genome.wustl.edu	37	chr14	57749690	57749690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaatacaaaactagttttgGccagcttgaagtatttcgag	13	12	10	6	1	0	1	0	1	0	0	1	3	0	2	1	2	3	3	1	2	7	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:57749690G>T	ENST00000261558.3	+	5	1533	c.1127G>T	c.(1126-1128)gGc>gTc	p.G376V	AP5M1_ENST00000431972.2_Missense_Mutation_p.G390V|AP5M1_ENST00000556723.1_3'UTR	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	376	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											ACTAGTTTTGGCCAGCTTGAA	0.274																																																	0													116	131	126					14																	57749690		2203	4299	6502	SO:0001583	missense	0			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1127G>T	14.37:g.57749690G>T	ENSP00000261558:p.Gly376Val		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	p.G376V	ENST00000261558.3	37	c.1127	CCDS9729.1	14	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734142	0.89482	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.57907	0.37;0.37	6.06	6.06	0.98353	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76364	0.3977	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.77370	-0.2613	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	376	Q9H0R1	MUDEN_HUMAN	V	376;390	ENSP00000261558:G376V;ENSP00000390531:G390V	ENSP00000261558:G376V	G	+	2	0	MUDENG	56819443	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.653000	0.67967	2.871000	0.98454	0.655000	0.94253	GGC	AP5M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000053770		0.274	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5M1	HGNC	protein_coding	OTTHUMT00000276922.1		0	20	0	G	NM_018229		57749690	1			no_errors	ENST00000261558	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	57749690	G	T	57749690	3	4	57	1	0	0	0	0	1	0	0	0	10021	1203	42	3	1145	3	MUDENG	14	57749690	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	17959429	57749690	49599850	291	14289											
GALNTL1	57452	genome.wustl.edu	37	chr14	69795244	69795244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggatagccactgcgaaGtgaacaccgagtggctgccg	9	8	13	11	3	1	1	0	1	1	0	1	4	1	2	3	2	4	1	3	2	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:69795244G>T	ENST00000337827.4	+	6	973	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	GALNT16_ENST00000448469.3_Missense_Mutation_p.V216L|GALNT16_ENST00000553669.1_Missense_Mutation_p.V216L	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	216	Catalytic subdomain A.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCACTGCGAAGTGAACACCGA	0.627																																																	0													93	88	90					14																	69795244		2203	4300	6503	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.646G>T	14.37:g.69795244G>T	ENSP00000336729:p.Val216Leu		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V216L	ENST00000337827.4	37	c.646	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.139665	0.94560	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.57595	0.39;0.39;0.39	5.59	5.59	0.84812	Glycosyl transferase, family 2 (1);	0.116173	0.64402	D	0.000018	T	0.74764	0.3759	M	0.82433	2.59	0.80722	D	1	D;D	0.60160	0.987;0.987	D;D	0.64321	0.924;0.924	T	0.78319	-0.2250	10	0.87932	D	0	.	19.191	0.93666	0.0:0.0:1.0:0.0	.	216;216	Q8N428;Q58A55	GLTL1_HUMAN;.	L	216	ENSP00000336729:V216L;ENSP00000402970:V216L;ENSP00000451200:V216L	ENSP00000336729:V216L	V	+	1	0	GALNTL1	68864997	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.167000	0.77562	2.636000	0.89361	0.563000	0.77884	GTG	GALNT16	-	pfam_Glyco_trans_2	ENSG00000100626		0.627	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	HGNC	protein_coding	OTTHUMT00000412434.1	-	0	96	0	G	NM_001168368		69795244	1	tier1	-	no_errors	ENST00000337827	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	69795244	G	T	69795244	3	4	57	1	0	0	0	0	1	0	0	0	6246	1029	36	3	668	3	GALNTL1	14	69795244	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	12045554	69795244	37554296	292	14290											
TTC7B	145567	genome.wustl.edu	37	chr14	91059894	91059894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccctgcttaggggcactGctctgcagagacgaagccac	8	6	14	13	1	1	1	0	0	1	1	1	3	1	1	2	3	4	4	2	3	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:91059894G>T	ENST00000328459.6	-	18	2164	c.2043C>A	c.(2041-2043)agC>agA	p.S681R	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.S698R	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	681										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TAGGGGCACTGCTCTGCAGAG	0.617																																																	0													82	69	73					14																	91059894		2203	4300	6503	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2043C>A	14.37:g.91059894G>T	ENSP00000336127:p.Ser681Arg		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S698R	ENST00000328459.6	37	c.2094	CCDS32140.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.492701|4.492701	0.84962|0.84962	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000557292|ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000555894	.|T;T;T	.|0.68025	.|1.71;1.06;-0.3	5.6|5.6	4.6|4.6	0.57074|0.57074	.|Protein prenyltransferase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77974|0.77974	0.4211|0.4211	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.997	.|D;D	.|0.78314	.|0.986;0.991	T|T	0.78645|0.78645	-0.2123|-0.2123	5|10	.|0.56958	.|D	.|0.05	-20.0802|-20.0802	12.9935|12.9935	0.58634|0.58634	0.1065:0.0:0.8935:0.0|0.1065:0.0:0.8935:0.0	.|.	.|681;698	.|Q86TV6;Q86TV6-2	.|TTC7B_HUMAN;.	K|R	109|579;698;681;168;90	.|ENSP00000349564:S698R;ENSP00000336127:S681R;ENSP00000451440:S168R	.|ENSP00000336127:S681R	Q|S	-|-	1|3	0|2	TTC7B|TTC7B	90129647|90129647	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.661000|4.661000	0.61518|0.61518	2.632000|2.632000	0.89209|0.89209	0.650000|0.650000	0.86243|0.86243	CAG|AGC	TTC7B	-	NULL	ENSG00000165914		0.617	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	-	0	107	0	G			91059894	-1	tier1	-	no_errors	ENST00000357056	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	91059894	G	T	91059894	3	4	57	1	0	0	0	0	1	0	0	0	16762	1310	46	3	500	3	TTC7B	14	91059894	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	21264650	91059894	16289646	293	14291											
KIAA1409	57578	genome.wustl.edu	37	chr14	94063749	94063749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttctggatattcactcaGtaaccaaaaaccacctgctg	13	11	6	11	0	3	0	2	0	1	0	3	2	3	1	3	1	3	2	3	1	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:94063749G>T	ENST00000393151.2	+	24	3235	c.3235G>T	c.(3235-3237)Gta>Tta	p.V1079L	UNC79_ENST00000256339.4_Missense_Mutation_p.V902L|UNC79_ENST00000553484.1_Missense_Mutation_p.V1079L|UNC79_ENST00000555664.1_Missense_Mutation_p.V1079L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1079					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TATTCACTCAGTAACCAAAAA	0.468																																																	0													130	113	119					14																	94063749		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3235G>T	14.37:g.94063749G>T	ENSP00000376858:p.Val1079Leu		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.V1079L	ENST00000393151.2	37	c.3235		14	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998674	0.54147	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	N	0.20807	0.61	0.43919	D	0.996563	D	0.53312	0.959	D	0.67103	0.949	T	0.02852	-1.1102	10	0.02654	T	1	-20.8461	20.1535	0.98095	0.0:0.0:1.0:0.0	.	1079	C9JQL1	.	L	902;1079;1079;1079;1079	ENSP00000256339:V902L;ENSP00000450868:V1079L;ENSP00000451360:V1079L;ENSP00000376858:V1079L	ENSP00000256339:V902L	V	+	1	0	KIAA1409	93133502	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.810000	0.75216	2.764000	0.94973	0.650000	0.86243	GTA	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.468	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0	97	0	G	XM_028395		94063749	1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	5.71	65	4	SNP	1.000	T	T	94063749	G	T	94063749	3	4	57	1	0	0	0	0	1	0	0	0	8257	1029	36	3	2786	3	KIAA1409	14	94063749	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3003855	94063749	13285791	294	14292											
DLK1	8788	genome.wustl.edu	37	chr14	101200740	101200740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcagcccgtgccagaacgGgggcacctgcctgcagcaca	9	3	13	16	2	0	1	0	0	0	1	0	1	0	1	4	2	7	4	4	2	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:101200740G>T	ENST00000341267.4	+	5	901	c.659G>T	c.(658-660)gGg>gTg	p.G220V	DLK1_ENST00000331224.6_Missense_Mutation_p.G220V	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	220	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TGCCAGAACGGGGGCACCTGC	0.667																																																	0													30	37	35					14																	101200740		2202	4300	6502	SO:0001583	missense	0			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"delta-like homolog (Drosophila)"			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.659G>T	14.37:g.101200740G>T	ENSP00000340292:p.Gly220Val		P15803|Q96DW5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G220V	ENST00000341267.4	37	c.659	CCDS9963.1	14	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487236	0.63962	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	D;T	0.94457	-3.43;-0.19	4.7	4.7	0.59300	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.175034	0.46442	D	0.000286	D	0.98178	0.9398	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99799	1.1035	10	0.87932	D	0	.	16.6457	0.85176	0.0:0.0:1.0:0.0	.	220;220	P80370-2;P80370	.;DLK1_HUMAN	V	220	ENSP00000340292:G220V;ENSP00000331081:G220V	ENSP00000331081:G220V	G	+	2	0	DLK1	100270493	1.000000	0.71417	0.999000	0.59377	0.398000	0.30690	6.440000	0.73435	2.149000	0.67028	0.491000	0.48974	GGG	DLK1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000185559		0.667	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	HGNC	protein_coding	OTTHUMT00000414389.1	-	0	83	0	G			101200740	1	tier1	-	no_errors	ENST00000341267	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	101200740	G	T	101200740	3	4	57	1	0	0	0	0	1	0	0	0	4578	1232	43	3	677	3	DLK1	14	101200740	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7136991	101200740	6148800	295	14293											
ADSSL1	122622	genome.wustl.edu	37	chr14	105212613	105212616	+	Frame_Shift_Del	DEL	AACG	AACG	-																															aaggtcgaagttgagtatgaAacgctgcctgggtggaaagc																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	AACG	AACG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr14:105212613_105212616delAACG	ENST00000555674.1	+	1	221_224	c.30_33delAACG	c.(28-33)gaaacgfs	p.ET10fs	ADSSL1_ENST00000556623.1_Frame_Shift_Del_p.ET10fs|ADSSL1_ENST00000554657.1_3'UTR|ADSSL1_ENST00000330877.2_Frame_Shift_Del_p.ET404fs|ADSSL1_ENST00000332972.5_Frame_Shift_Del_p.ET447fs					adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		TTGAGTATGAAACGCTGCCTGGGT	0.593																																																	0																																										SO:0001589	frameshift_variant	0			AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000555674.1:c.30_33delAACG	14.37:g.105212613_105212616delAACG	ENSP00000450433:p.Glu10fs			Frame_Shift_Del	DEL	pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	p.E447fs	ENST00000555674.1	37	c.1341_1344		14																																																																																			ADSSL1	-	pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase	ENSG00000185100		0.593	ADSSL1-010	PUTATIVE	basic|exp_conf	protein_coding	ADSSL1	HGNC	protein_coding	OTTHUMT00000410540.1		0	21	0	AACG			105212616	1	tier1		no_errors	ENST00000332972	ensembl	human	known	74_37	frame_shift_del	40.00	3	2	DEL	0.800:0.988:0.991:0.474	-	-	105212616	AACG	-	105212613	7	5	57	1	0	1	0	1	0	0	0	0	348	11	1	0	1583	0	ADSSL1	14	105212613	Frame_Shift_Del	DEL	AACG	TCGA-L5-A4OH-01A-11D-A27G-09	4011873	105212613	2136927	296	14294											
MAGEL2	54551	genome.wustl.edu	37	chr15	23889632	23889632	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttgttgatgataatataGgcgtggtttttggtatcaat	10	17	11	3	1	1	2	1	2	0	0	1	2	1	2	0	3	1	4	0	3	5	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:23889632G>T	ENST00000532292.1	-	1	1543	c.1449C>A	c.(1447-1449)gcC>gcA	p.A483A		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	366	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGATAATATAGGCGTGGTTTT	0.423																																																	0													92	86	88					15																	23889632		1886	4117	6003	SO:0001819	synonymous_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1449C>A	15.37:g.23889632G>T				Silent	SNP	pfam_MAGE,pfscan_MAGE	p.A483	ENST00000532292.1	37	c.1449		15	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.420277	0.01136	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.78	-1.68	0.08212	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33624	-0.9861	4	.	.	.	.	9.0239	0.36218	0.5105:0.0:0.4894:0.0	.	.	.	.	H	515	.	.	P	-	2	0	MAGEL2	21440725	0.920000	0.31207	0.013000	0.15412	0.067000	0.16453	-0.163000	0.09997	-0.395000	0.07715	-0.600000	0.04104	CCT	MAGEL2	-	pfam_MAGE,pfscan_MAGE	ENSG00000254585		0.423	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	40	0	G	NM_019066		23889632	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.009	T	T	23889632	G	T	23889632	2	4	57	1	0	0	0	0	0	0	0	1	9227	987	35	3		3	MAGEL2	15	23889632	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		23889632	78641760	297	14295											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40278066	40278066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccatcagtgacgactgagGctgtgcactacctatacatc	11	9	9	12	1	1	2	1	2	0	0	2	3	1	2	2	1	4	2	2	1	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:40278066G>T	ENST00000263791.5	+	14	2423	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S	EIF2AK4_ENST00000382727.2_Intron	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	794	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACGACTGAGGCTGTGCACTA	0.493																																																	0													90	88	89					15																	40278066		2008	4187	6195	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2380G>T	15.37:g.40278066G>T	ENSP00000263791:p.Ala794Ser		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.A794S	ENST00000263791.5	37	c.2380	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023292	0.35701	.	.	ENSG00000128829	ENST00000263791	T	0.23348	1.91	6.08	5.16	0.70880	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173767	0.51477	D	0.000097	T	0.09069	0.0224	N	0.02865	-0.47	0.80722	D	1	P	0.35684	0.515	B	0.37387	0.248	T	0.29701	-1.0003	10	0.06625	T	0.88	-16.2545	6.9655	0.24621	0.1737:0.0:0.8263:0.0	.	794	Q9P2K8	E2AK4_HUMAN	S	794	ENSP00000263791:A794S	ENSP00000263791:A794S	A	+	1	0	EIF2AK4	38065358	1.000000	0.71417	0.998000	0.56505	0.323000	0.28346	4.273000	0.58914	2.894000	0.99253	0.591000	0.81541	GCT	EIF2AK4	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom	ENSG00000128829		0.493	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1		0	115	0	G			40278066	1			no_errors	ENST00000263791	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.998	T	T	40278066	G	T	40278066	3	4	57	1	0	0	0	0	1	0	0	0	5013	1203	42	3	2434	3	EIF2AK4	15	40278066	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	16388434	40278066	62253326	298	14296											
CHST14	113189	genome.wustl.edu	37	chr15	40764412	40764412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaccggccagccagccccGaaagcctgcattaccacttg	9	6	10	16	2	0	0	0	0	0	0	0	1	0	0	7	2	6	2	7	2	3	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:40764412G>A	ENST00000306243.5	+	1	1253	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CHST14_ENST00000559991.1_Missense_Mutation_p.E309K	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	334					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|dermatan sulfate proteoglycan metabolic process (GO:0050655)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|phosphate ion binding (GO:0042301)	p.E334K(1)		cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		AGCCAGCCCCGAAAGCCTGCA	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											61	63	63					15																	40764412		2203	4300	6503	SO:0001583	missense	0			AF401222	CCDS10059.1	15q15.1	2014-09-17	2007-03-27	2007-03-27	ENSG00000169105	ENSG00000169105		"Sulfotransferases, membrane-bound"	24464	protein-coding gene	gene with protein product		608429	"dermatan 4 sulfotransferase 1"	D4ST1		11470797	Standard	NM_130468		Approved	HD4ST, D4ST-1	uc001zlw.3	Q8NCH0	OTTHUMG00000129985	ENST00000306243.5:c.1000G>A	15.37:g.40764412G>A	ENSP00000307297:p.Glu334Lys		Q6PJ31|Q6UXA0|Q96P94	Missense_Mutation	SNP	pfam_Sulfotransferase	p.E334K	ENST00000306243.5	37	c.1000	CCDS10059.1	15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215547	0.79352	.	.	ENSG00000169105	ENST00000306243	T	0.73363	-0.74	4.76	4.76	0.60689	.	0.065612	0.64402	D	0.000017	T	0.77232	0.4100	L	0.41710	1.295	0.58432	D	0.999999	D	0.67145	0.996	P	0.58130	0.833	T	0.73786	-0.3873	10	0.25106	T	0.35	-17.6425	16.9372	0.86206	0.0:0.0:1.0:0.0	.	334	Q8NCH0	CHSTE_HUMAN	K	334	ENSP00000307297:E334K	ENSP00000307297:E334K	E	+	1	0	CHST14	38551704	1.000000	0.71417	0.887000	0.34795	0.988000	0.76386	4.595000	0.61048	2.477000	0.83638	0.655000	0.94253	GAA	CHST14	-	pfam_Sulfotransferase	ENSG00000169105		0.622	CHST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST14	HGNC	protein_coding	OTTHUMT00000252251.1	-	0	105	0	G	NM_130468		40764412	1	tier1	-	no_errors	ENST00000306243	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.997	A	A	40764412	G	A	40764412	3	1	57	1	0	0	0	0	1	0	0	0	3409	1059	37	1	1002	1	CHST14	15	40764412	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	486346	40764412	61766980	299	14297											
MGA	23269	genome.wustl.edu	37	chr15	42003189	42003189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacaggcaactttcagtgGccgaactaaatcatcttata	14	10	7	10	1	3	1	2	0	1	1	3	2	3	1	1	2	2	1	1	2	6	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:42003189G>T	ENST00000570161.1	+	7	2726	c.2726G>T	c.(2725-2727)gGc>gTc	p.G909V	MGA_ENST00000219905.7_Missense_Mutation_p.G909V|MGA_ENST00000545763.1_Missense_Mutation_p.G909V|MGA_ENST00000389936.4_Missense_Mutation_p.G909V|MGA_ENST00000566586.1_Missense_Mutation_p.G909V			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTTCAGTGGCCGAACTAAA	0.393																																																	0													139	138	138					15																	42003189		1858	4101	5959	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2726G>T	15.37:g.42003189G>T	ENSP00000457035:p.Gly909Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.G909V	ENST00000570161.1	37	c.2726	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360762	0.61403	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.14766	2.48;2.48;2.48	5.86	4.94	0.65067	.	0.889939	0.09892	N	0.742168	T	0.24084	0.0583	L	0.29908	0.895	0.50313	D	0.999862	D;D	0.76494	0.994;0.999	P;D	0.63033	0.891;0.91	T	0.00862	-1.1536	10	0.87932	D	0	.	10.1323	0.42687	0.0709:0.1371:0.792:0.0	.	909;909	F5H7K2;E7ENI0	.;.	V	909	ENSP00000219905:G909V;ENSP00000374586:G909V;ENSP00000442467:G909V	ENSP00000219905:G909V	G	+	2	0	MGA	39790481	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.880000	0.48530	1.486000	0.48398	0.655000	0.94253	GGC	MGA	-	NULL	ENSG00000174197		0.393	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	29	0	G	NM_001164273.1		42003189	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	30.00	7	3	SNP	1.000	T	T	42003189	G	T	42003189	3	4	57	1	0	0	0	0	1	0	0	0	9578	1203	42	3	2752	3	MGA	15	42003189	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1238777	42003189	60528203	300	14298											
ZSCAN29	146050	genome.wustl.edu	37	chr15	43654131	43654131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttcattctcaaatccagCttcaaaacctgatgtaaaac	15	12	3	11	0	4	1	3	1	2	0	6	1	5	1	2	0	3	2	2	0	5	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:43654131C>T	ENST00000396976.2	-	5	1833	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	ZSCAN29_ENST00000562072.1_Silent_p.K495K|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.A178T|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.A177T	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	567					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCAAATCCAGCTTCAAAACCT	0.348																																																	0													46	50	48					15																	43654131		2201	4299	6500	SO:0001583	missense	0			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1699G>A	15.37:g.43654131C>T	ENSP00000380174:p.Ala567Thr		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A567T	ENST00000396976.2	37	c.1699	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	C	6.186	0.402442	0.11696	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.07688	3.17;3.18	4.67	4.67	0.58626	.	0.204018	0.34676	N	0.003768	T	0.24236	0.0587	M	0.72118	2.19	0.35213	D	0.775375	P;D	0.69078	0.582;0.997	B;D	0.77004	0.328;0.989	T	0.19976	-1.0289	10	0.11182	T	0.66	-6.2944	15.1234	0.72463	0.0:1.0:0.0:0.0	.	178;567	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	T	567;178	ENSP00000380174:A567T;ENSP00000380170:A178T	ENSP00000380170:A178T	A	-	1	0	ZSCAN29	41441423	0.025000	0.19082	1.000000	0.80357	0.657000	0.38888	0.820000	0.27323	2.415000	0.81967	0.655000	0.94253	GCT	ZSCAN29	-	NULL	ENSG00000140265		0.348	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	-	0	26	0	C	NM_152455		43654131	-1	tier1	-	no_errors	ENST00000396976	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	43654131	C	T	43654131	3	4	57	1	0	0	0	0	1	0	0	0	18284	797	28	3	863	3	ZSCAN29	15	43654131	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1650942	43654131	58877261	301	14299											
SLC27A2	11001	genome.wustl.edu	37	chr15	50519185	50519185	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcttaggtgaagttGgacttctggtttgcaaaatc	8	16	10	7	0	3	1	0	1	3	0	4	2	3	2	0	3	1	3	0	3	4	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:50519185G>T	ENST00000267842.5	+	7	1499	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	SLC27A2_ENST00000380902.4_Nonsense_Mutation_p.G370*|SLC27A2_ENST00000544960.1_Nonsense_Mutation_p.G188*	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	423					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGGTGAAGTTGGACTTCTGGT	0.368																																																	0													61	60	60					15																	50519185		2196	4295	6491	SO:0001587	stop_gained	0			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"Acyl-CoA synthetase family", "Solute carriers"	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1267G>T	15.37:g.50519185G>T	ENSP00000267842:p.Gly423*		A8K2J7|Q53FY6|Q6PF09	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G423*	ENST00000267842.5	37	c.1267	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.378447	0.98248	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5141	0.87768	0.0:0.0:1.0:0.0	.	.	.	.	X	370;423;188	.	ENSP00000267842:G423X	G	+	1	0	SLC27A2	48306477	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.682000	0.84083	2.730000	0.93505	0.655000	0.94253	GGA	SLC27A2	-	pfam_AMP-dep_Synth/Lig	ENSG00000140284		0.368	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	-	0	38	0	G	NM_003645		50519185	1	tier1	-	no_errors	ENST00000267842	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T	T	50519185	G	T	50519185	4	4	57	1	0	0	0	0	0	1	0	0	14571	1349	47	3	1293	3	SLC27A2	15	50519185	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6865054	50519185	52012207	302	14300											
GLDN	342035	genome.wustl.edu	37	chr15	51696856	51696856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctgttcttgccatgttaGcatacaacatgagagatcag	12	12	9	8	0	3	2	1	1	2	1	3	3	3	2	1	0	4	3	1	0	3	4	rs75780940	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:51696856G>T	ENST00000335449.6	+	10	1617	c.1561G>T	c.(1561-1563)Gca>Tca	p.A521S	GLDN_ENST00000396399.2_Missense_Mutation_p.A397S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	521	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A521T(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TGCCATGTTAGCATACAACAT	0.378																																																	1	Substitution - Missense(1)	stomach(1)											142	140	141					15																	51696856		2196	4293	6489	SO:0001583	missense	0			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"collomin"	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1561G>T	15.37:g.51696856G>T	ENSP00000335196:p.Ala521Ser		Q6UXZ7|Q7Z359	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.A521S	ENST00000335449.6	37	c.1561	CCDS10140.2	15	.	.	.	.	.	.	.	.	.	.	G	2.636	-0.285343	0.05605	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.88354	-2.37;-2.37	5.8	-0.743	0.11105	Olfactomedin-like (3);	0.678590	0.12143	N	0.495718	T	0.63058	0.2479	N	0.00621	-1.32	0.25321	N	0.989115	B	0.12630	0.006	B	0.10450	0.005	T	0.57458	-0.7808	10	0.02654	T	1	.	11.1477	0.48440	0.0912:0.0:0.4588:0.45	.	521	Q6ZMI3	GLDN_HUMAN	S	521;397;397	ENSP00000335196:A521S;ENSP00000379681:A397S	ENSP00000335196:A521S	A	+	1	0	GLDN	49484148	0.996000	0.38824	0.623000	0.29173	0.956000	0.61745	2.591000	0.46163	0.115000	0.18071	-0.457000	0.05445	GCA	GLDN	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000186417		0.378	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2		0	48	0	G	NM_181789		51696856	1			no_errors	ENST00000335449	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.668	T	T	51696856	G	T	51696856	3	4	57	1	0	0	0	0	1	0	0	0	6460	971	34	3	1599	3	GLDN	15	51696856	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1177671	51696856	50834536	303	14301											
KIAA1370	56204	genome.wustl.edu	37	chr15	52876946	52876946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttgaagcattacctcaGatgtatgaggtagcgtaata	14	13	9	5	1	1	3	1	2	0	1	1	3	1	3	1	1	3	4	1	1	7	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:52876946G>T	ENST00000261844.7	-	12	3225	c.3073C>A	c.(3073-3075)Ctg>Atg	p.L1025M	RP11-23N2.4_ENST00000566344.1_RNA|RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.L1032M	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1025								p.L1025M(1)									CATTACCTCAGATGTATGAGG	0.318																																																	1	Substitution - Missense(1)	endometrium(1)											140	133	135					15																	52876946		1835	4082	5917	SO:0001583	missense	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3073C>A	15.37:g.52876946G>T	ENSP00000261844:p.Leu1025Met		A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.L1025M	ENST00000261844.7	37	c.3073	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761333	0.69763	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.58210	0.35;0.35	5.3	3.43	0.39272	.	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.57536	1.79	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68224	-0.5465	10	0.87932	D	0	.	11.9443	0.52920	0.1416:0.0:0.8584:0.0	.	1032;1025	F5H8G0;Q32MH5	.;K1370_HUMAN	M	1025;1025;1032	ENSP00000261844:L1025M;ENSP00000443598:L1032M	ENSP00000261844:L1025M	L	-	1	2	KIAA1370	50664238	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	4.583000	0.60964	0.741000	0.32674	0.467000	0.42956	CTG	FAM214A	-	NULL	ENSG00000047346		0.318	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	-	0	122	0	G	NM_019600		52876946	-1	tier1	-	no_errors	ENST00000261844	ensembl	human	known	74_37	missense	6.74	83	6	SNP	1.000	T	T	52876946	G	T	52876946	3	4	57	1	0	0	0	0	1	0	0	0	8253	933	33	3	165	3	KIAA1370	15	52876946	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1180090	52876946	49654446	304	14302											
PIAS1	8554	genome.wustl.edu	37	chr15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcgtggaaccaaagcGacccagccgaccaattaata	16	5	9	11	3	0	0	0	0	0	0	0	3	0	1	4	2	3	0	4	2	6	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											114	108	110					15																	68438944		1832	4072	5904	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	PIAS1	-	NULL	ENSG00000033800		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2		0	53	0	G			68438944	1			no_errors	ENST00000249636	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	68438944	G	T	68438944	3	4	57	1	0	0	0	0	1	0	0	0	11914	1058	37	2	756	2	PIAS1	15	68438944	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	15561998	68438944	34092448	305	14303											
CORO2B	10391	genome.wustl.edu	37	chr15	69011786	69011786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaaagaaggctataaGaagtcctcaaaaatggtatt	16	12	8	5	0	2	3	1	1	1	2	3	3	3	3	1	2	0	2	1	2	8	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:69011786G>T	ENST00000566799.1	+	11	1235	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	CORO2B_ENST00000543950.1_Missense_Mutation_p.K397N|CORO2B_ENST00000540068.1_Missense_Mutation_p.K397N|CORO2B_ENST00000261861.5_Missense_Mutation_p.K397N			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	402					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AAGGCTATAAGAAGTCCTCAA	0.448																																																	0													140	136	138					15																	69011786		2200	4298	6498	SO:0001583	missense	0			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"Coronins", "WD repeat domain containing"	2256	protein-coding gene	gene with protein product	"clipin C", "coronin, actin-binding, 2B"	605002	"coronin, actin-binding protein, 2B"			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1206G>T	15.37:g.69011786G>T	ENSP00000454783:p.Lys402Asn		A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K402N	ENST00000566799.1	37	c.1206	CCDS10229.2	15	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998851	0.35226	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.58940	0.3;0.3	5.33	5.33	0.75918	.	1.168490	0.05819	N	0.615401	T	0.54743	0.1877	L	0.40543	1.245	0.38648	D	0.951767	B	0.02656	0.0	B	0.06405	0.002	T	0.20306	-1.0279	10	0.18276	T	0.48	-32.9675	17.5821	0.87971	0.0:0.0:1.0:0.0	.	402	Q9UQ03	COR2B_HUMAN	N	402;397;397	ENSP00000446250:K397N;ENSP00000443819:K397N	ENSP00000261861:K402N	K	+	3	2	CORO2B	66798840	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.322000	0.43814	2.506000	0.84524	0.462000	0.41574	AAG	CORO2B	-	NULL	ENSG00000103647		0.448	CORO2B-203	KNOWN	basic|CCDS	protein_coding	CORO2B	HGNC	protein_coding		-	0	47	0	G	NM_006091		69011786	1	tier1	-	no_errors	ENST00000566799	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	69011786	G	T	69011786	3	4	57	1	0	0	0	0	1	0	0	0	3764	933	33	3	1248	3	CORO2B	15	69011786	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	572842	69011786	33519606	306	14304											
GLCE	26035	genome.wustl.edu	37	chr15	69548267	69548267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagcaatccagtttccacGgcgttcgagtagtggcttca	10	10	10	11	3	1	0	1	0	0	0	4	1	3	0	2	2	1	5	2	2	3	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:69548267G>T	ENST00000261858.2	+	3	350	c.122G>T	c.(121-123)cGg>cTg	p.R41L	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	41					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGTTTCCACGGCGTTCGAGT	0.433																																																	0													107	102	104					15																	69548267		2200	4298	6498	SO:0001583	missense	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.122G>T	15.37:g.69548267G>T	ENSP00000261858:p.Arg41Leu		Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.R41L	ENST00000261858.2	37	c.122	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344122	0.41498	.	.	ENSG00000138604	ENST00000261858	T	0.31510	1.49	5.51	5.51	0.81932	.	0.116625	0.64402	D	0.000015	T	0.26666	0.0652	L	0.47716	1.5	0.43183	D	0.995003	B	0.26258	0.145	B	0.26517	0.07	T	0.07252	-1.0782	10	0.02654	T	1	-27.7753	17.2728	0.87107	0.0:0.0:1.0:0.0	.	41	O94923	GLCE_HUMAN	L	41	ENSP00000261858:R41L	ENSP00000261858:R41L	R	+	2	0	GLCE	67335321	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.863000	0.62983	2.738000	0.93877	0.655000	0.94253	CGG	GLCE	-	NULL	ENSG00000138604		0.433	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding			0	78	0	G	NM_015554		69548267	1			no_errors	ENST00000261858	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.981	T	T	69548267	G	T	69548267	3	4	57	1	0	0	0	0	1	0	0	0	6458	1116	39	2	124	2	GLCE	15	69548267	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	536481	69548267	32983125	307	14305											
RASGRF1	5923	genome.wustl.edu	37	chr15	79310220	79310220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgattttaaaatccaaGtgatctatgtcttggccgga	11	12	8	10	2	2	1	0	1	2	0	3	3	3	2	4	2	0	0	4	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr15:79310220G>T	ENST00000419573.3	-	12	1909	c.1635C>A	c.(1633-1635)caC>caA	p.H545Q	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H545Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	545	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TAAAATCCAAGTGATCTATGT	0.483																																																	0													115	105	109					15																	79310220		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1635C>A	15.37:g.79310220G>T	ENSP00000405963:p.His545Gln		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.H545Q	ENST00000419573.3	37	c.1635	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	17.22	3.332997	0.60853	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.28454	1.61	4.73	4.73	0.59995	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.40196	0.1107	M	0.73962	2.25	0.80722	D	1	B;B;B;P	0.36222	0.203;0.409;0.409;0.544	B;B;B;B	0.40009	0.3;0.168;0.168;0.316	T	0.40270	-0.9572	10	0.51188	T	0.08	.	15.2414	0.73474	0.0:0.0:1.0:0.0	.	545;545;545;545	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Q	545	ENSP00000405963:H545Q	ENSP00000378224:H545Q	H	-	3	2	RASGRF1	77097275	1.000000	0.71417	0.959000	0.39883	0.456000	0.32438	3.099000	0.50267	2.436000	0.82500	0.467000	0.42956	CAC	RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.483	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	53	0	G	NM_002891		79310220	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	79310220	G	T	79310220	3	4	57	1	0	0	0	0	1	0	0	0	13117	1020	36	3	2254	3	RASGRF1	15	79310220	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9761953	79310220	23221172	308	14306											
HN1L	90861	genome.wustl.edu	37	chr16	1741892	1741892	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atcaacccccgtgcagactcGacagcacctgaacccacctg	11	5	7	18	2	1	2	1	1	0	1	2	3	1	2	5	0	4	2	5	0	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:1741892G>C	ENST00000248098.3	+	3	299	c.242G>C	c.(241-243)cGa>cCa	p.R81P	HN1L_ENST00000561516.1_Intron|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000562684.1_Missense_Mutation_p.R109P|HN1L_ENST00000569765.1_Intron|HN1L_ENST00000382710.4_Missense_Mutation_p.R69P|HN1L_ENST00000382711.5_Missense_Mutation_p.R65P	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	81						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GTGCAGACTCGACAGCACCTG	0.557																																																	0													118	98	104					16																	1741892		2199	4300	6499	SO:0001583	missense	0			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 34"	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.242G>C	16.37:g.1741892G>C	ENSP00000248098:p.Arg81Pro		B1AJY2|Q6EIC7	Missense_Mutation	SNP	NULL	p.R81P	ENST00000248098.3	37	c.242	CCDS10441.1	16	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008408	0.35415	.	.	ENSG00000206053	ENST00000248098;ENST00000382711;ENST00000414325;ENST00000382710	T;T	0.47528	0.84;0.84	6.17	5.22	0.72569	.	0.258781	0.40385	N	0.001110	T	0.58075	0.2097	L	0.43923	1.385	0.20926	N	0.999829	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.51004	-0.8760	10	0.34782	T	0.22	-4.8873	11.1909	0.48685	0.0663:0.1271:0.8067:0.0	.	69;109;81	A6NGP5;B4DLH4;Q9H910	.;.;HN1L_HUMAN	P	81;109;81;69	ENSP00000248098:R81P;ENSP00000372157:R69P	ENSP00000248098:R81P	R	+	2	0	HN1L	1681893	0.985000	0.35326	0.069000	0.20011	0.243000	0.25628	3.557000	0.53741	1.626000	0.50381	0.655000	0.94253	CGA	HN1L	-	NULL	ENSG00000206053		0.557	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2		0	48	0	G	NM_144570		1741892	1			no_errors	ENST00000248098	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.157	C	C	1741892	G	C	1741892	3	2	57	1	0	0	0	0	1	0	0	0	7277	1058	37	5	252	5	HN1L	16	1741892	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		1741892	88612861	309	14307											
RBBP6	5930	genome.wustl.edu	37	chr16	24574976	24574976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccaggtggtggtcgaccagGctgggaacagtgagtagatg	9	8	17	7	1	0	2	0	1	0	1	2	4	1	3	2	5	1	2	2	5	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:24574976G>T	ENST00000319715.4	+	13	1943	c.1511G>T	c.(1510-1512)gGc>gTc	p.G504V	RBBP6_ENST00000348022.2_Missense_Mutation_p.G504V|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	504					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G504V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGTCGACCAGGCTGGGAACAG	0.388																																																	1	Substitution - Missense(1)	endometrium(1)											103	102	102					16																	24574976		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1511G>T	16.37:g.24574976G>T	ENSP00000317872:p.Gly504Val		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.G504V	ENST00000319715.4	37	c.1511	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042048	0.55003	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.19669	2.13;2.26	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000025	T	0.34279	0.0892	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	T	0.03051	-1.1078	10	0.39692	T	0.17	-16.4267	17.6572	0.88181	0.0:0.0:1.0:0.0	.	504;504	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	V	504	ENSP00000317872:G504V;ENSP00000316291:G504V	ENSP00000317872:G504V	G	+	2	0	RBBP6	24482477	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.229000	0.65316	2.601000	0.87937	0.563000	0.77884	GGC	RBBP6	-	NULL	ENSG00000122257		0.388	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2		0	53	0	G	NM_006910		24574976	1			no_errors	ENST00000319715	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.998	T	T	24574976	G	T	24574976	3	4	57	1	0	0	0	0	1	0	0	0	13148	1203	42	3	1615	3	RBBP6	16	24574976	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	22833084	24574976	65779777	310	14308											
IRX6	79190	genome.wustl.edu	37	chr16	55361258	55361258	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagttttacatccagcctGgcacaaccaggagcctatta	11	9	10	11	0	0	0	0	0	0	0	1	2	1	2	4	3	4	2	4	3	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:55361258G>T	ENST00000290552.7	+	3	1686	c.354G>T	c.(352-354)ctG>ctT	p.L118L	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	118					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CATCCAGCCTGGCACAACCAG	0.512																																																	0													77	77	77					16																	55361258		2198	4300	6498	SO:0001819	synonymous_variant	0			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.354G>T	16.37:g.55361258G>T			B2RN06|Q7Z2K0	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.L118	ENST00000290552.7	37	c.354	CCDS32449.1	16																																																																																			IRX6	-	NULL	ENSG00000159387		0.512	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4		0	60	0	G	NM_024335		55361258	1			no_errors	ENST00000290552	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.998	T	T	55361258	G	T	55361258	2	4	57	1	0	0	0	0	0	0	0	1	7875	1335	47	3		3	IRX6	16	55361258	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	30786282	55361258	34993495	311	14309											
CES3	23491	genome.wustl.edu	37	chr16	67006779	67006779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccaatagcaaggctctgCctccttggccccaattcaac	10	8	6	17	0	2	0	1	0	1	0	3	0	3	0	6	2	3	2	6	2	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:67006779C>T	ENST00000303334.4	+	13	1614	c.1543C>T	c.(1543-1545)Cct>Tct	p.P515S	CES3_ENST00000543856.1_Missense_Mutation_p.P154S|CES3_ENST00000394037.1_Missense_Mutation_p.P512S	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	515						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAAGGCTCTGCCTCCTTGGCC	0.607																																																	0													90	96	94					16																	67006779		2200	4300	6500	SO:0001583	missense	0			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"Carboxylesterases"	1865	protein-coding gene	gene with protein product	"esterase 31", "brain carboxylesterase BR3"	605279	"carboxylesterase 3 (brain)"			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.1543C>T	16.37:g.67006779C>T	ENSP00000304782:p.Pro515Ser		B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.P515S	ENST00000303334.4	37	c.1543	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494447	0.64186	.	.	ENSG00000172828	ENST00000303334;ENST00000394037;ENST00000543856	T;T;T	0.10288	2.89;2.89;2.89	5.03	2.99	0.34606	Carboxylesterase, type B (1);	0.000000	0.34700	N	0.003751	T	0.24890	0.0604	M	0.79475	2.455	0.09310	N	1	D;B	0.65815	0.995;0.417	D;P	0.64237	0.923;0.472	T	0.05533	-1.0879	10	0.66056	D	0.02	.	4.2901	0.10874	0.1584:0.5996:0.1539:0.0881	.	154;515	F5H242;Q6UWW8	.;EST3_HUMAN	S	515;512;154	ENSP00000304782:P515S;ENSP00000377602:P512S;ENSP00000445559:P154S	ENSP00000304782:P515S	P	+	1	0	CES3	65564280	1.000000	0.71417	0.813000	0.32504	0.475000	0.33008	2.928000	0.48908	1.074000	0.40909	0.579000	0.79373	CCT	CES3	-	pfam_CarbesteraseB	ENSG00000172828		0.607	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	-	0	26	0	C	NM_024922		67006779	1	tier1	-	no_errors	ENST00000303334	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.200	T	T	67006779	C	T	67006779	3	4	57	1	0	0	0	0	1	0	0	0	3278	739	26	3	1593	3	CES3	16	67006779	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	11645521	67006779	23347974	312	14310											
ACD	65057	genome.wustl.edu	37	chr16	67692970	67692970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatttcatccagaagctggGacagtgataggcctggggac	10	8	14	9	0	1	2	1	1	0	1	2	4	2	4	2	4	1	2	2	4	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:67692970G>A	ENST00000393919.4	-	7	1028	c.764C>T	c.(763-765)tCc>tTc	p.S255F	PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank|ACD_ENST00000219251.8_Missense_Mutation_p.S252F|PARD6A_ENST00000458121.2_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	255	Interaction with POT1.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGAAGCTGGGACAGTGATAG	0.592																																																	0													57	58	57					16																	67692970		2198	4300	6498	SO:0001583	missense	0			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"TIN2 interacting protein 1", "POT1 and TIN2 organizing protein"	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.764C>T	16.37:g.67692970G>A	ENSP00000377496:p.Ser255Phe		Q562H5|Q9H8F9	Missense_Mutation	SNP	NULL	p.S255F	ENST00000393919.4	37	c.764	CCDS42181.1	16	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260661	0.80246	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.56103	0.48;0.48	5.15	5.15	0.70609	.	0.388726	0.24866	N	0.034977	T	0.60919	0.2306	L	0.29908	0.895	0.37360	D	0.911166	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.967	T	0.68322	-0.5439	10	0.87932	D	0	-15.103	14.111	0.65121	0.0:0.0:1.0:0.0	.	255;252	Q96AP0;Q96AP0-2	ACD_HUMAN;.	F	252;255	ENSP00000219251:S252F;ENSP00000377496:S255F	ENSP00000219251:S252F	S	-	2	0	ACD	66250471	1.000000	0.71417	0.985000	0.45067	0.984000	0.73092	4.746000	0.62133	2.386000	0.81285	0.462000	0.41574	TCC	ACD	-	NULL	ENSG00000102977		0.592	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACD	HGNC	protein_coding	OTTHUMT00000268880.1	-	0	32	0	G	NM_022914		67692970	-1	tier1	-	no_errors	ENST00000393919	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	A	A	67692970	G	A	67692970	3	1	57	1	0	0	0	0	1	0	0	0	135	1174	41	3	894	3	ACD	16	67692970	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	686191	67692970	22661783	313	14311											
CHST4	10164	genome.wustl.edu	37	chr16	71571171	71571171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaaagacccctccctcaaCctgcatatcgtgcacctggt	9	9	7	16	1	1	2	1	1	0	1	3	2	2	2	5	1	3	2	5	1	3	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr16:71571171C>T	ENST00000338482.5	+	3	934	c.591C>T	c.(589-591)aaC>aaT	p.N197N	CHST4_ENST00000572450.1_Silent_p.N197N|CHST4_ENST00000539698.3_Silent_p.N197N|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	197					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTCCCTCAACCTGCATATCG	0.607																																																	0													70	72	71					16																	71571171		2198	4300	6498	SO:0001819	synonymous_variant	0			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"Sulfotransferases, membrane-bound"	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.591C>T	16.37:g.71571171C>T			Q8IV46|Q9Y5R3	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.N197	ENST00000338482.5	37	c.591	CCDS10902.1	16																																																																																			CHST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000140835		0.607	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	-	0	51	0	C	NM_005769		71571171	1	tier1	-	no_errors	ENST00000338482	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.999	T	T	71571171	C	T	71571171	2	4	57	1	0	0	0	0	0	0	0	1	3413	506	18	3		3	CHST4	16	71571171	Silent	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	3878201	71571171	18783582	314	14312											
ALOX12B	242	genome.wustl.edu	37	chr17	7990724	7990724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgttcccgacaagaggtCggtgcctgtggccaccctga	6	8	13	14	3	0	2	0	1	0	1	2	3	1	2	5	3	1	1	5	3	1	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:7990724C>T	ENST00000319144.4	-	1	297	c.37G>A	c.(37-39)Gac>Aac	p.D13N	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	13	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GACAAGAGGTCGGTGCCTGTG	0.592										Multiple Myeloma(8;0.094)																																							0													201	154	170					17																	7990724		2203	4300	6503	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.37G>A	17.37:g.7990724C>T	ENSP00000315167:p.Asp13Asn			Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.D13N	ENST00000319144.4	37	c.37	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	10.94	1.494021	0.26774	.	.	ENSG00000179477	ENST00000319144	T	0.63417	-0.04	4.78	4.78	0.61160	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.288783	0.34484	N	0.003939	T	0.51041	0.1651	L	0.49126	1.545	0.09310	N	1	B	0.22080	0.064	B	0.23419	0.046	T	0.31696	-0.9934	10	0.27785	T	0.31	-27.5419	6.0766	0.19919	0.1881:0.7182:0.0:0.0937	.	13	O75342	LX12B_HUMAN	N	13	ENSP00000315167:D13N	ENSP00000315167:D13N	D	-	1	0	ALOX12B	7931449	0.006000	0.16342	0.279000	0.24732	0.904000	0.53231	1.647000	0.37260	2.486000	0.83907	0.555000	0.69702	GAC	ALOX12B	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml	ENSG00000179477		0.592	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3		0	90	0	C			7990724	-1			no_errors	ENST00000319144	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.007	T	T	7990724	C	T	7990724	3	4	57	1	0	0	0	0	1	0	0	0	537	884	31	1	2128	1	ALOX12B	17	7990724	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09		7990724	73204486	315	14313											
MYH10	4628	genome.wustl.edu	37	chr17	8455418	8455418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaagatatgaaaagtacGttcatcttttgcttgacgaa	15	13	8	5	2	2	3	1	2	1	1	2	4	2	3	0	0	2	4	0	0	7	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:8455418G>A	ENST00000269243.4	-	8	973	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	MYH10_ENST00000396239.1_Missense_Mutation_p.R279C|MYH10_ENST00000379980.4_Missense_Mutation_p.R295C|MYH10_ENST00000360416.3_Missense_Mutation_p.R289C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	279	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R279C(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGAAAAGTACGTTCATCTTTT	0.308																																																	1	Substitution - Missense(1)	endometrium(1)											47	49	48					17																	8455418		2203	4300	6503	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.835C>T	17.37:g.8455418G>A	ENSP00000269243:p.Arg279Cys		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R279C	ENST00000269243.4	37	c.835	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888591	0.52014	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36	4.78	4.78	0.61160	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	H	0.95645	3.7	0.80722	D	1	D;P;D	0.62365	0.991;0.642;0.991	P;B;P	0.61328	0.887;0.233;0.887	D	0.97634	1.0144	10	0.87932	D	0	.	11.9896	0.53168	0.0:0.0:0.7219:0.2781	.	288;289;279	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	279;289;279;295	ENSP00000269243:R279C;ENSP00000353590:R289C;ENSP00000379539:R279C;ENSP00000369315:R295C	ENSP00000269243:R279C	R	-	1	0	MYH10	8396143	0.997000	0.39634	0.948000	0.38648	0.982000	0.71751	2.442000	0.44873	2.458000	0.83093	0.655000	0.94253	CGT	MYH10	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133026		0.308	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2		0	73	0	G			8455418	-1			no_errors	ENST00000396239	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.996	A	A	8455418	G	A	8455418	3	1	57	1	0	0	0	0	1	0	0	0	10068	1145	40	1	5231	1	MYH10	17	8455418	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	464694	8455418	72739792	316	14314											
MYO15A	51168	genome.wustl.edu	37	chr17	18060519	18060519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggtgtacctggaggaGctgcgacgtagaggccccga	9	6	17	9	3	0	1	0	0	0	1	0	5	0	3	3	5	3	3	3	5	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:18060519G>T	ENST00000205890.5	+	50	9101	c.8763G>T	c.(8761-8763)gaG>gaT	p.E2921D	MYO15A_ENST00000451725.2_5'Flank|MYO15A_ENST00000418233.3_Missense_Mutation_p.E185D	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2921	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCTGGAGGAGCTGCGACGTA	0.637																																																	0													35	46	42					17																	18060519		2071	4212	6283	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8763G>T	17.37:g.18060519G>T	ENSP00000205890:p.Glu2921Asp		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.E2921D	ENST00000205890.5	37	c.8763	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961323	0.34565	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.90133	-2.62	5.21	4.21	0.49690	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	D	0.88355	0.6414	L	0.46157	1.445	0.80722	D	1	P;B;B	0.39624	0.681;0.04;0.121	P;B;B	0.46685	0.524;0.046;0.111	D	0.86387	0.1733	9	0.62326	D	0.03	.	5.12	0.14856	0.0774:0.1477:0.6217:0.1532	.	120;185;2921	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	D	2921;120	ENSP00000205890:E2921D	ENSP00000205890:E2921D	E	+	3	2	MYO15A	18001244	1.000000	0.71417	0.997000	0.53966	0.661000	0.39034	2.649000	0.46656	1.143000	0.42306	0.561000	0.74099	GAG	MYO15A	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	ENSG00000091536		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	39	0	G	NM_016239		18060519	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	18060519	G	T	18060519	3	4	57	1	0	0	0	0	1	0	0	0	10101	962	34	3	8953	3	MYO15A	17	18060519	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9605101	18060519	63134691	317	14315											
AKAP10	11216	genome.wustl.edu	37	chr17	19866239	19866239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaaaaggagtccatgttgGcagaaatggcattgattgca	13	11	12	5	0	0	3	0	2	0	1	1	4	1	4	1	3	1	4	1	3	3	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:19866239G>T	ENST00000225737.6	-	3	390	c.233C>A	c.(232-234)gCc>gAc	p.A78D	AKAP10_ENST00000395536.3_Missense_Mutation_p.A78D|AKAP10_ENST00000572155.1_5'UTR	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	78					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					GTCCATGTTGGCAGAAATGGC	0.463																																																	0													148	142	144					17																	19866239		2203	4300	6503	SO:0001583	missense	0			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"A-kinase anchor proteins"	368	protein-coding gene	gene with protein product	"dual-specificity A-kinase anchoring protein 2", "protein kinase A anchoring protein 10", "mitochondrial A kinase PPKA anchor protein 10"	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.233C>A	17.37:g.19866239G>T	ENSP00000225737:p.Ala78Asp		B2R650|Q96AJ7	Nonsense_Mutation	SNP	NULL	p.C59*	ENST00000225737.6	37	c.177	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869524	0.91587	.	.	ENSG00000108599	ENST00000225737;ENST00000395536	T	0.52983	0.64	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.67702	0.2921	L	0.56769	1.78	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.68047	-0.5512	10	0.87932	D	0	-8.1548	19.2047	0.93724	0.0:0.0:1.0:0.0	.	78;78;78	E7EMD6;Q2XPN4;O43572	.;.;AKA10_HUMAN	D	78	ENSP00000225737:A78D	ENSP00000225737:A78D	A	-	2	0	AKAP10	19806831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.181000	0.94874	2.781000	0.95711	0.591000	0.81541	GCC	AKAP10	-	NULL	ENSG00000108599		0.463	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	HGNC	protein_coding	OTTHUMT00000132380.2		0	29	0	G	NM_007202		19866239	-1			no_errors	ENST00000572341	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T	T	19866239	G	T	19866239	3	4	57	1	0	0	0	0	1	0	0	0	446	1203	42	3	1807	3	AKAP10	17	19866239	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1805720	19866239	61328971	318	14316											
SUPT6H	6830	genome.wustl.edu	37	chr17	27016493	27016493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgaggatgccaatcctGcaggagcccttgaagaaatc	12	6	11	12	1	0	2	0	1	0	1	2	5	1	4	4	2	4	1	4	2	3	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:27016493G>T	ENST00000314616.6	+	25	3539	c.3256G>T	c.(3256-3258)Gca>Tca	p.A1086S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1086S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1086	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGCCAATCCTGCAGGAGCCCT	0.532																																																	0													87	80	82					17																	27016493		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3256G>T	17.37:g.27016493G>T	ENSP00000319104:p.Ala1086Ser		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.A1086S	ENST00000314616.6	37	c.3256	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708428	0.68615	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.39	5.39	0.77823	Tex RuvX-like domain (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	N	0.25245	0.725	0.80722	D	1	P	0.46621	0.881	B	0.37198	0.243	T	0.19451	-1.0305	9	0.17832	T	0.49	-11.4486	19.1591	0.93524	0.0:0.0:1.0:0.0	.	1086	Q7KZ85	SPT6H_HUMAN	S	1086	.	ENSP00000319104:A1086S	A	+	1	0	SUPT6H	24040620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.117000	0.94347	2.528000	0.85240	0.655000	0.94253	GCA	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.532	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	45	0	G	NM_003170		27016493	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	27016493	G	T	27016493	3	4	57	1	0	0	0	0	1	0	0	0	15447	1319	46	3	3350	3	SUPT6H	17	27016493	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7150254	27016493	54178717	319	14317											
NEK8	284086	genome.wustl.edu	37	chr17	27062333	27062333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagaagagtgacatctggGccctgggctgtgtcctctac	8	9	12	12	0	2	3	0	1	2	2	3	3	3	3	3	2	1	1	3	2	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:27062333G>T	ENST00000268766.6	+	4	596	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACATCTGGGCCCTGGGCTG	0.577																																					NSCLC(6;19 293 14866 25253 49845)												0													58	53	55					17																	27062333		2203	4300	6503	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.562G>T	17.37:g.27062333G>T	ENSP00000268766:p.Ala188Ser		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A188S	ENST00000268766.6	37	c.562	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.200220	0.97371	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.12255	2.7;2.7	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051156	0.85682	D	0.000000	T	0.11410	0.0278	N	0.04090	-0.28	0.80722	D	1	P	0.45634	0.863	P	0.49276	0.605	T	0.40496	-0.9560	10	0.15499	T	0.54	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	188	Q86SG6	NEK8_HUMAN	S	188	ENSP00000465859:A188S;ENSP00000268766:A188S	ENSP00000268766:A188S	A	+	1	0	NEK8	24086460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GCC	NEK8	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000160602		0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0	66	0	G			27062333	1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	27062333	G	T	27062333	3	4	57	1	0	0	0	0	1	0	0	0	10369	1203	42	3	576	3	NEK8	17	27062333	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	45840	27062333	54132877	320	14318											
DNAJC7	7266	genome.wustl.edu	37	chr17	40148376	40148376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagttctagggctctctGgaagctgcgacatgctgcca	8	10	11	12	1	2	0	0	0	2	0	4	2	3	1	2	2	4	4	2	2	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:40148376G>T	ENST00000457167.4	-	4	594	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	DNAJC7_ENST00000426588.3_Missense_Mutation_p.Q64K|DNAJC7_ENST00000316603.7_Missense_Mutation_p.Q64K	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	120					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AGGGCTCTCTGGAAGCTGCGA	0.488																																					Colon(63;618 1117 8600 10857 19751)												0													89	83	85					17																	40148376		1912	4138	6050	SO:0001583	missense	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.358C>A	17.37:g.40148376G>T	ENSP00000406463:p.Gln120Lys		Q7Z784	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.Q120K	ENST00000457167.4	37	c.358	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160583	0.21454	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.76186	1.36;-1.0;-1.0	5.47	5.47	0.80525	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	L	0.36672	1.1	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.13407	0.001;0.009;0.002	T	0.61043	-0.7142	10	0.02654	T	1	-4.8121	19.7014	0.96054	0.0:0.0:1.0:0.0	.	109;64;120	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	K	120;64;64	ENSP00000406463:Q120K;ENSP00000394327:Q64K;ENSP00000313311:Q64K	ENSP00000313311:Q64K	Q	-	1	0	DNAJC7	37401902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.542000	0.82095	2.729000	0.93468	0.655000	0.94253	CAG	DNAJC7	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168259		0.488	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2	-	0	68	0	G			40148376	-1	tier1	-	no_errors	ENST00000457167	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T	T	40148376	G	T	40148376	3	4	57	1	0	0	0	0	1	0	0	0	4668	1357	47	3	1170	3	DNAJC7	17	40148376	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	13086043	40148376	41046834	321	14319											
CNTNAP1	8506	genome.wustl.edu	37	chr17	40849294	40849294	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccctccccacctcaggtGgactacttcccactgacaga	8	8	6	19	0	1	2	1	1	0	1	4	3	4	3	6	2	1	0	6	2	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:40849294G>T	ENST00000264638.4	+	21	3694	c.3477G>T	c.(3475-3477)gtG>gtT	p.V1159V	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1159	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		cACCTCAGGTGGACTACTTCC	0.592																																																	0													92	86	88					17																	40849294		2203	4300	6503	SO:0001819	synonymous_variant	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3477G>T	17.37:g.40849294G>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V1159	ENST00000264638.4	37	c.3477	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.592	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1		0	43	0	G	NM_003632		40849294	1			no_errors	ENST00000264638	ensembl	human	known	74_37	silent	7.14	39	3	SNP	1.000	T	T	40849294	G	T	40849294	2	4	57	1	0	0	0	0	0	0	0	1	3653	1335	47	3		3	CNTNAP1	17	40849294	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	700918	40849294	40345916	322	14320											
KIF18B	146909	genome.wustl.edu	37	chr17	43012200	43012200	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcccaatcccacaccTggtggaaagaaagtccttgc	11	6	9	15	1	0	1	0	0	0	1	2	3	2	2	5	2	2	0	5	2	3	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:43012200T>C	ENST00000593135.1	-	4	672	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	KIF18B_ENST00000587309.1_Splice_Site_p.Q192R|KIF18B_ENST00000339151.4_Splice_Site_p.Q192R|KIF18B_ENST00000438933.2_Splice_Site_p.Q192R|KIF18B_ENST00000590129.1_Splice_Site_p.Q201R	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	201	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCCCACACCTGGTGGAAAGA	0.592																																																	0													15	17	16					17																	43012200		1795	3887	5682	SO:0001630	splice_region_variant	0				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.576+1A>G	17.37:g.43012200T>C			A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q192R	ENST00000593135.1	37	c.575	CCDS45709.2	17	.	.	.	.	.	.	.	.	.	.	T	14.20	2.465455	0.43839	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.74737	-0.87;-0.87	5.36	3.1	0.35709	Kinesin, motor domain (4);	0.000000	0.35013	N	0.003514	T	0.67458	0.2895	L	0.45581	1.43	0.39255	D	0.964103	B;B;B	0.27192	0.1;0.171;0.082	B;B;B	0.34991	0.098;0.193;0.059	T	0.61855	-0.6977	10	0.44086	T	0.13	.	7.8046	0.29195	0.0:0.0732:0.139:0.7878	.	201;201;201	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	R	192	ENSP00000412798:Q192R;ENSP00000341466:Q192R	ENSP00000341466:Q192R	Q	-	2	0	KIF18B	40367726	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	4.747000	0.62141	0.331000	0.23511	0.454000	0.30748	CAG	KIF18B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000186185		0.592	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	-	0	78	0	T	NM_001080443	Missense_Mutation	43012200	-1	tier1	-	no_errors	ENST00000339151	ensembl	human	known	74_37	missense	35.42	31	17	SNP	1.000	C	C	43012200	T	C	43012200	5	2	57	1	0	0	0	0	0	0	1	0	8308	1594	55	4	2043	4	KIF18B	17	43012200	Splice_Site	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	2162906	43012200	38183010	323	14321											
SPAG9	9043	genome.wustl.edu	37	chr17	49077040	49077041	+	Frame_Shift_Ins	INS	-	-	T																															caactgccaaatgcttgaccINStttttttttcctgcatggct																								rs371303534		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:49077040_49077041insT	ENST00000262013.7	-	14	1853_1854	c.1645_1646insA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000357122.4_Frame_Shift_Ins_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Ins_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Ins_p.R392fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AATGCTTGACCTTTTTTTTTCC	0.322																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1646dupA	17.37:g.49077049_49077049dupT	ENSP00000262013:p.Arg549fs		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Ins	INS	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R549fs	ENST00000262013.7	37	c.1646_1645	CCDS45740.1	17																																																																																			SPAG9	-	NULL	ENSG00000008294		0.322	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2		0	77	0	-	NM_003971		49077041	-1	tier1		no_errors	ENST00000262013	ensembl	human	known	74_37	frame_shift_ins	33.33	56	28	INS	1.000:1.000	T	T	49077041	-	T	49077040	7	5	57	1	0	1	1	0	0	0	0	0	15032	681	24	0	2387	0	SPAG9	17	49077040	Frame_Shift_Ins	INS	-	TCGA-L5-A4OH-01A-11D-A27G-09	6064840	49077040	32118170	324	14322											
HEATR6	63897	genome.wustl.edu	37	chr17	58121221	58121221	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagggaggtccgaggcactGgccaagctcaagaggtgaat	12	5	15	9	1	1	2	1	1	0	1	2	4	2	3	2	5	1	2	2	5	4	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:58121221G>T	ENST00000184956.6	-	20	3265	c.3249C>A	c.(3247-3249)gcC>gcA	p.A1083A	AC005702.4_ENST00000583144.1_RNA|HEATR6_ENST00000585976.1_Silent_p.A971A|AC005702.1_ENST00000581326.1_RNA|MIR4737_ENST00000583979.1_RNA|AC005702.3_ENST00000582298.1_RNA|AC005702.2_ENST00000577558.1_RNA	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1083							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CCGAGGCACTGGCCAAGCTCA	0.463																																																	0													113	116	115					17																	58121221		2203	4300	6503	SO:0001819	synonymous_variant	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.3249C>A	17.37:g.58121221G>T			B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Silent	SNP	superfamily_ARM-type_fold	p.A1083	ENST00000184956.6	37	c.3249	CCDS11623.1	17																																																																																			HEATR6	-	superfamily_ARM-type_fold	ENSG00000068097		0.463	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1		0	98	0	G	NM_022070		58121221	-1			no_errors	ENST00000184956	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T	T	58121221	G	T	58121221	2	4	57	1	0	0	0	0	0	0	0	1	7060	1335	47	3		3	HEATR6	17	58121221	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	9044181	58121221	23073989	325	14323											
TANC2	26115	genome.wustl.edu	37	chr17	61315435	61315435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacggccaaattcagtaGcaggtaagtttttgttgttg	9	14	11	7	1	1	0	1	0	0	0	1	0	1	0	2	2	2	6	2	2	3	7			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:61315435G>T	ENST00000424789.2	+	6	812	c.808G>T	c.(808-810)Gca>Tca	p.A270S	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A270S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	270					in utero embryonic development (GO:0001701)			p.A270T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAATTCAGTAGCAGGTAAgtt	0.338																																																	1	Substitution - Missense(1)	ovary(1)											14	14	14					17																	61315435		1795	3962	5757	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.808G>T	17.37:g.61315435G>T	ENSP00000387593:p.Ala270Ser		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A270S	ENST00000424789.2	37	c.808	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.116298	0.94339	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.71103	-0.54;-0.53	5.7	5.7	0.88788	.	.	.	.	.	D	0.83843	0.5342	M	0.68317	2.08	0.80722	D	1	P;D	0.76494	0.92;0.999	P;D	0.87578	0.673;0.998	D	0.83613	0.0135	9	0.54805	T	0.06	.	19.8405	0.96681	0.0:0.0:1.0:0.0	.	270;270	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	S	270	ENSP00000374171:A270S;ENSP00000387593:A270S	ENSP00000374171:A270S	A	+	1	0	TANC2	58669167	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.692000	0.91855	0.655000	0.94253	GCA	TANC2	-	NULL	ENSG00000170921		0.338	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1		0	80	0	G			61315435	1			no_errors	ENST00000424789	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	61315435	G	T	61315435	3	4	57	1	0	0	0	0	1	0	0	0	15592	971	34	3	830	3	TANC2	17	61315435	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3194214	61315435	19879775	326	14324											
CCDC46	201134	genome.wustl.edu	37	chr17	64171309	64171309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaccttttgctcgtgctGgatttggttcatcaaaatag	9	16	9	7	1	2	1	2	1	0	0	3	2	2	2	1	2	3	3	1	2	4	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:64171309G>T	ENST00000392769.2	-	4	541	c.323C>A	c.(322-324)cCa>cAa	p.P108Q	CEP112_ENST00000537949.1_Missense_Mutation_p.P108Q|CEP112_ENST00000535342.2_Missense_Mutation_p.P108Q	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	108					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGCTCGTGCTGGATTTGGTTC	0.353																																																	0													80	76	77					17																	64171309		2203	4300	6503	SO:0001583	missense	0			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"coiled-coil domain containing 46"	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.323C>A	17.37:g.64171309G>T	ENSP00000376522:p.Pro108Gln		Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	superfamily_t-SNARE	p.P108Q	ENST00000392769.2	37	c.323	CCDS32710.1	17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015039	0.35511	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.42900	0.96;0.96;1.0	5.21	2.8	0.32819	.	0.411992	0.22097	N	0.064663	T	0.26448	0.0646	N	0.22421	0.69	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.05354	-1.0890	10	0.19590	T	0.45	-0.4472	10.8661	0.46856	0.0809:0.0:0.7868:0.1323	.	108;108	F5GYE8;Q8N8E3	.;CE112_HUMAN	Q	108	ENSP00000442784:P108Q;ENSP00000376522:P108Q;ENSP00000440775:P108Q	ENSP00000376522:P108Q	P	-	2	0	CEP112	61601771	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.884000	0.56175	1.154000	0.42482	0.555000	0.69702	CCA	CEP112	-	NULL	ENSG00000154240		0.353	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	-	0	42	0	G	NM_145036		64171309	-1	tier1	-	no_errors	ENST00000392769	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	64171309	G	T	64171309	3	4	57	1	0	0	0	0	1	0	0	0	2824	1348	47	3	2806	3	CCDC46	17	64171309	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2855874	64171309	17023901	327	14325											
ARSG	22901	genome.wustl.edu	37	chr17	66303639	66303639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctgccttcaccaccatggGctggctttttctaaaggttt	6	15	8	12	0	2	0	1	0	1	0	3	0	3	0	4	3	1	3	4	3	2	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:66303639G>T	ENST00000448504.2	+	2	801	c.5G>T	c.(4-6)gGc>gTc	p.G2V	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	2					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCACCATGGGCTGGCTTTTT	0.468																																																	0													86	95	92					17																	66303639		2203	4300	6503	SO:0001583	missense	0			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"Arylsulfatase family"	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.5G>T	17.37:g.66303639G>T	ENSP00000407193:p.Gly2Val		Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.G2V	ENST00000448504.2	37	c.5	CCDS11676.1	17	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519470	0.27211	.	.	ENSG00000141337	ENST00000452479	D	0.89939	-2.59	5.45	-0.324	0.12706	.	0.508110	0.17992	N	0.155172	T	0.79393	0.4438	N	0.19112	0.55	0.80722	D	1	B	0.27823	0.19	B	0.30029	0.11	T	0.71009	-0.4716	10	0.44086	T	0.13	.	10.7858	0.46405	0.0841:0.6313:0.2846:0.0	.	2	Q96EG1	ARSG_HUMAN	V	2	ENSP00000413953:G2V	ENSP00000413953:G2V	G	+	2	0	ARSG	63815234	0.978000	0.34361	1.000000	0.80357	0.939000	0.58152	0.523000	0.22925	0.378000	0.24764	0.650000	0.86243	GGC	ARSG	-	NULL	ENSG00000141337		0.468	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSG	HGNC	protein_coding	OTTHUMT00000448369.1	-	0	96	0	G	NM_014960		66303639	1	tier1	-	no_errors	ENST00000448504	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.995	T	T	66303639	G	T	66303639	3	4	57	1	0	0	0	0	1	0	0	0	993	1203	42	3	7	3	ARSG	17	66303639	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2132330	66303639	14891571	328	14326											
CD300C	10871	genome.wustl.edu	37	chr17	72541893	72541893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagcagagctgaagacCgccacgaggcccaggccctg	10	2	16	13	2	0	3	0	1	0	2	0	6	0	5	4	4	2	2	4	4	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:72541893C>T	ENST00000330793.1	-	1	389	c.29G>A	c.(28-30)cGg>cAg	p.R10Q		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	10					cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGCTGAAGACCGCCACGAGGC	0.622																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													57	45	49					17																	72541893		2200	4299	6499	SO:0001583	missense	0			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.29G>A	17.37:g.72541893C>T	ENSP00000329507:p.Arg10Gln			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R10Q	ENST00000330793.1	37	c.29	CCDS11701.1	17	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165890	0.38217	.	.	ENSG00000167850	ENST00000330793	T	0.03272	3.99	3.54	2.46	0.29980	.	0.350672	0.16364	N	0.217660	T	0.01387	0.0045	N	0.11927	0.2	0.09310	N	1	D	0.59357	0.985	B	0.30029	0.11	T	0.45366	-0.9266	10	0.10111	T	0.7	.	6.9829	0.24713	0.7466:0.2534:0.0:0.0	.	10	Q08708	CLM6_HUMAN	Q	10	ENSP00000329507:R10Q	ENSP00000329507:R10Q	R	-	2	0	CD300C	70053488	0.951000	0.32395	0.166000	0.22797	0.031000	0.12232	1.027000	0.30115	0.749000	0.32854	-0.271000	0.10264	CGG	CD300C	-	NULL	ENSG00000167850		0.622	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	-	0	17	0	C	NM_006678		72541893	-1	tier1	-	no_errors	ENST00000330793	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.178	T	T	72541893	C	T	72541893	3	4	57	1	0	0	0	0	1	0	0	0	3004	652	23	1	661	1	CD300C	17	72541893	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	6238254	72541893	8653317	329	14327											
ACOX1	51	genome.wustl.edu	37	chr17	73944459	73944459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcatcaaccaaagcaacaGcatctgagcgaatcagagtg	16	6	9	10	1	3	2	2	1	1	1	3	3	3	2	1	0	6	3	1	0	4	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:73944459G>T	ENST00000301608.4	-	13	1868	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	ACOX1_ENST00000537812.1_Missense_Mutation_p.A565D|ACOX1_ENST00000293217.5_Missense_Mutation_p.A603D	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	603					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	CAAAGCAACAGCATCTGAGCG	0.438																																																	0													185	156	166					17																	73944459		2203	4300	6503	SO:0001583	missense	0			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"acyl-Coenzyme A oxidase 1, palmitoyl"			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1808C>A	17.37:g.73944459G>T	ENSP00000301608:p.Ala603Asp		A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase	p.A603D	ENST00000301608.4	37	c.1808	CCDS11735.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.105822	0.94292	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.59364	0.27;0.27;0.27	5.35	5.35	0.76521	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	H	0.96048	3.76	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.998;0.996	D;D;D;P	0.70016	0.967;0.948;0.93;0.885	D	0.88611	0.3156	10	0.87932	D	0	-22.5041	19.9544	0.97215	0.0:0.0:1.0:0.0	.	535;565;603;603	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	D	603;603;565;603;535	ENSP00000301608:A603D;ENSP00000293217:A603D;ENSP00000441257:A565D	ENSP00000293217:A603D	A	-	2	0	ACOX1	71456054	1.000000	0.71417	0.791000	0.31998	0.883000	0.51084	7.122000	0.77169	2.885000	0.99019	0.655000	0.94253	GCT	ACOX1	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000161533		0.438	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACOX1	HGNC	protein_coding	OTTHUMT00000439503.1	-	0	63	0	G			73944459	-1	tier1	-	no_errors	ENST00000293217	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	73944459	G	T	73944459	3	4	57	1	0	0	0	0	1	0	0	0	158	971	34	3	182	3	ACOX1	17	73944459	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1402566	73944459	7250751	330	14328											
CDK3	1018	genome.wustl.edu	37	chr17	73998125	73998125	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacgtggtgcacaacGagaggaagctctatctggtg	9	9	15	8	2	2	1	0	0	2	1	2	4	2	3	0	4	4	3	0	4	3	1	rs140567861		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:73998125G>T	ENST00000425876.2	+	3	305	c.217G>T	c.(217-219)Gag>Tag	p.E73*	CDK3_ENST00000448471.1_Nonsense_Mutation_p.E73*|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.E73K(1)		central_nervous_system(1)	1						GGTGCACAACGAGAGGAAGCT	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											119	100	107					17																	73998125		2203	4300	6503	SO:0001587	stop_gained	0			X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"Cyclin-dependent kinases"	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.217G>T	17.37:g.73998125G>T	ENSP00000410561:p.Glu73*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E73*	ENST00000425876.2	37	c.217	CCDS11736.1	17	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123753	0.56613	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	.	.	.	4.76	4.76	0.60689	.	0.356461	0.24020	N	0.042282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.3585	13.3969	0.60858	0.0:0.171:0.8289:0.0	.	.	.	.	X	73	.	ENSP00000410561:E73X	E	+	1	0	CDK3	71509720	1.000000	0.71417	0.930000	0.37139	0.027000	0.11550	7.316000	0.79007	2.476000	0.83614	0.655000	0.94253	GAG	CDK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000250506		0.572	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK3	HGNC	protein_coding	OTTHUMT00000337389.2		0	60	0	G	NM_001258		73998125	1			no_errors	ENST00000425876	ensembl	human	known	74_37	nonsense	10.53	17	2	SNP	0.998	T	T	73998125	G	T	73998125	4	4	57	1	0	0	0	0	0	1	0	0	3147	1059	37	2	227	2	CDK3	17	73998125	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	53666	73998125	7197085	331	14329											
RNF213	57674	genome.wustl.edu	37	chr17	78318720	78318720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcgaaggcaccccggaGgaatgcctccagcatttcct	8	9	10	14	2	1	0	0	0	1	0	4	3	3	2	5	3	2	2	5	3	2	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr17:78318720G>T	ENST00000582970.1	+	29	6728	c.6585G>T	c.(6583-6585)gaG>gaT	p.E2195D	RNF213_ENST00000336301.6_Missense_Mutation_p.E268D|RNF213_ENST00000508628.2_Missense_Mutation_p.E2244D	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2195					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACCCCGGAGGAATGCCTCC	0.458																																																	0													96	97	96					17																	78318720		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.6585G>T	17.37:g.78318720G>T	ENSP00000464087:p.Glu2195Asp		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.E2195D	ENST00000582970.1	37	c.6585	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	8.179	0.793503	0.16327	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23348	1.91	5.44	-3.56	0.04626	.	0.770143	0.11896	N	0.519118	T	0.14227	0.0344	L	0.44542	1.39	0.09310	N	0.999998	B	0.23540	0.087	B	0.20577	0.03	T	0.29243	-1.0018	10	0.22109	T	0.4	.	2.0304	0.03528	0.3253:0.3904:0.1535:0.1308	.	268	Q63HN8	RN213_HUMAN	D	2195;2244;268	ENSP00000338218:E268D	ENSP00000338218:E268D	E	+	3	2	RNF213	75933315	0.000000	0.05858	0.022000	0.16811	0.355000	0.29361	-0.912000	0.04046	-0.199000	0.10317	0.563000	0.77884	GAG	RNF213	-	NULL	ENSG00000173821		0.458	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	29	0	G	NM_020914		78318720	1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.016	T	T	78318720	G	T	78318720	3	4	57	1	0	0	0	0	1	0	0	0	13522	991	35	3	7014	3	RNF213	17	78318720	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4320595	78318720	2876490	332	14330											
CETN1	1068	genome.wustl.edu	37	chr18	580532	580532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttgacctcttcgacGtggacggaagtgggaccatc	10	9	12	10	3	1	1	0	1	1	0	3	5	1	4	2	3	1	1	2	3	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:580532G>T	ENST00000327228.3	+	1	166	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	42	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.V42M(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CCTCTTCGACGTGGACGGAAG	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)											75	57	63					18																	580532		2203	4300	6503	SO:0001583	missense	0			U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"EF-hand domain containing"	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.124G>T	18.37:g.580532G>T	ENSP00000319052:p.Val42Leu		B2R536	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.V42L	ENST00000327228.3	37	c.124	CCDS11820.1	18	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370271	0.24771	.	.	ENSG00000177143	ENST00000327228	T	0.70986	-0.53	5.2	2.35	0.29111	EF-hand-like domain (1);	0.354615	0.28989	N	0.013484	T	0.49847	0.1581	N	0.20766	0.605	0.19945	N	0.999947	B	0.02656	0.0	B	0.11329	0.006	T	0.43782	-0.9370	10	0.72032	D	0.01	.	4.0542	0.09810	0.1502:0.0:0.4581:0.3917	.	42	Q12798	CETN1_HUMAN	L	42	ENSP00000319052:V42L	ENSP00000319052:V42L	V	+	1	0	CETN1	570532	0.602000	0.26916	0.569000	0.28460	0.001000	0.01503	2.054000	0.41335	0.838000	0.34948	-0.169000	0.13324	GTG	CETN1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000177143		0.562	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN1	HGNC	protein_coding	OTTHUMT00000254314.2		0	47	0	G	NM_004066		580532	1			no_errors	ENST00000327228	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.991	T	T	580532	G	T	580532	3	4	57	1	0	0	0	0	1	0	0	0	3281	1145	40	2	126	2	CETN1	18	580532	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		580532	77496716	333	14331											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21761133	21761133	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttccacaggatcagaGagtgaactggccttgtggat	10	11	11	9	0	1	2	1	1	0	1	3	5	3	4	3	3	1	0	3	3	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:21761133G>T	ENST00000319481.3	-	19	1994	c.1788C>A	c.(1786-1788)ctC>ctA	p.L596L	OSBPL1A_ENST00000399443.3_Silent_p.L83L|OSBPL1A_ENST00000357041.4_Silent_p.L214L	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	596					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.L596L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CAGGATCAGAGAGTGAACTGG	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)											110	85	94					18																	21761133		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1788C>A	18.37:g.21761133G>T			B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.L596	ENST00000319481.3	37	c.1788	CCDS11884.1	18																																																																																			OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.483	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1		0	38	0	G	NM_080597		21761133	-1			no_errors	ENST00000319481	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.000	T	T	21761133	G	T	21761133	2	4	57	1	0	0	0	0	0	0	0	1	11316	929	33	3		3	OSBPL1A	18	21761133	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	21180601	21761133	56316115	334	14332											
CDH2	1000	genome.wustl.edu	37	chr18	25727694	25727694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagactgcactgtaaacatCttcaggaaatccagtcttgc	13	11	7	10	0	3	1	1	0	2	1	4	2	4	2	1	1	3	2	1	1	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:25727694C>T	ENST00000269141.3	-	2	538	c.115G>A	c.(115-117)Gat>Aat	p.D39N		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	39					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTAAACATCTTCAGGAAAT	0.403																																																	0													89	79	83					18																	25727694		2203	4300	6503	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.115G>A	18.37:g.25727694C>T	ENSP00000269141:p.Asp39Asn		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.D39N	ENST00000269141.3	37	c.115	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749465	0.49257	.	.	ENSG00000170558	ENST00000269141	T	0.44083	0.93	5.53	5.53	0.82687	Cadherin prodomain-like (1);Cadherin-like (1);	0.358059	0.28803	N	0.014082	T	0.57740	0.2074	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.57335	-0.7829	10	0.59425	D	0.04	.	19.818	0.96578	0.0:1.0:0.0:0.0	.	39	P19022	CADH2_HUMAN	N	39	ENSP00000269141:D39N	ENSP00000269141:D39N	D	-	1	0	CDH2	23981692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.571000	0.67404	2.750000	0.94351	0.650000	0.86243	GAT	CDH2	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000170558		0.403	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0	46	0	C	NM_001792		25727694	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	T	T	25727694	C	T	25727694	3	4	57	1	0	0	0	0	1	0	0	0	3112	913	32	3	2665	3	CDH2	18	25727694	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	3966561	25727694	52349554	335	14333											
KIAA1632	57724	genome.wustl.edu	37	chr18	43529453	43529453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgatgattcatcatacctgGataaaaggaacagcccattt	14	12	7	8	0	2	2	2	2	0	0	2	4	2	4	2	2	3	0	2	2	4	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:43529453G>A	ENST00000282041.5	-	5	1528	c.1494C>T	c.(1492-1494)atC>atT	p.I498I		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	498					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATCATACCTGGATAAAAGGAA	0.413																																																	0													79	74	75					18																	43529453		1844	4091	5935	SO:0001819	synonymous_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1494C>T	18.37:g.43529453G>A			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.I498	ENST00000282041.5	37	c.1494	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.413	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0	16	0	G	NM_020964		43529453	-1	tier1	-	no_errors	ENST00000282041	ensembl	human	known	74_37	silent	54.55	5	6	SNP	0.846	A	A	43529453	G	A	43529453	2	1	57	1	0	0	0	0	0	0	0	1	8276	1164	41	3		3	KIAA1632	18	43529453	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	17801759	43529453	34547795	336	14334											
MAPK4	5596	genome.wustl.edu	37	chr18	48241545	48241545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcgacatgtgggccGccggctgcatcctggctgag	7	7	14	13	3	0	1	0	1	0	0	2	2	1	1	4	3	2	3	4	3	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr18:48241545G>T	ENST00000400384.2	+	3	1679	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	MAPK4_ENST00000592595.1_Missense_Mutation_p.A215S|MAPK4_ENST00000540640.1_Missense_Mutation_p.A4S	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CATGTGGGCCGCCGGCTGCAT	0.527																																																	0													103	101	102					18																	48241545		2022	4180	6202	SO:0001583	missense	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.643G>T	18.37:g.48241545G>T	ENSP00000383234:p.Ala215Ser		A1A4C4|Q0VG04	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.A215S	ENST00000400384.2	37	c.643	CCDS42437.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.215551	0.95104	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.66280	-0.2;-0.2	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	T	0.78502	0.4293	M	0.67625	2.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80574	-0.1322	10	0.87932	D	0	-17.3352	17.8414	0.88716	0.0:0.0:1.0:0.0	.	215;215	Q0VG04;P31152	.;MK04_HUMAN	S	215;4	ENSP00000383234:A215S;ENSP00000439231:A4S	ENSP00000383234:A215S	A	+	1	0	MAPK4	46495543	1.000000	0.71417	0.149000	0.22428	0.991000	0.79684	7.978000	0.88095	2.505000	0.84491	0.555000	0.69702	GCC	MAPK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141639		0.527	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2	-	0	115	0	G	NM_002747		48241545	1	tier1	-	no_errors	ENST00000400384	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.999	T	T	48241545	G	T	48241545	3	4	57	1	0	0	0	0	1	0	0	0	9318	1087	38	2	649	2	MAPK4	18	48241545	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4712092	48241545	29835703	337	14335											
HDGFRP2	84717	genome.wustl.edu	37	chr19	4491828	4491828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctctggggggacggaaaaAaaaggtagcgtgcacttgac	12	6	14	9	2	1	1	0	1	1	0	1	3	1	3	1	5	2	2	1	5	5	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:4491828A>G	ENST00000301284.4	+	6	738	c.674A>G	c.(673-675)aAa>aGa	p.K225R	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.K225R	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		225	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GGACGGAAAAAAAAGGTAGCG	0.632																																																	0													43	53	50					19																	4491828		1883	4106	5989	SO:0001583	missense	0																														ENST00000301284.4:c.674A>G	19.37:g.4491828A>G	ENSP00000301284:p.Lys225Arg		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.K225R	ENST00000301284.4	37	c.674	CCDS42472.1	19	.	.	.	.	.	.	.	.	.	.	A	15.95	2.982894	0.53827	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.49432	0.78	4.81	4.81	0.61882	.	0.173341	0.48767	D	0.000164	T	0.56601	0.1996	L	0.43152	1.355	0.27037	N	0.964107	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.49818	-0.8899	10	0.38643	T	0.18	.	10.7911	0.46434	1.0:0.0:0.0:0.0	.	225;225	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	R	225;211	ENSP00000301284:K225R	ENSP00000301284:K225R	K	+	2	0	AC011498.1	4442828	1.000000	0.71417	0.997000	0.53966	0.506000	0.33950	3.596000	0.54024	1.794000	0.52575	0.454000	0.30748	AAA	HDGFRP2	-	NULL	ENSG00000167674		0.632	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HDGFRP2	Uniprot_gn	protein_coding	OTTHUMT00000458642.1	-	0	87	0	A			4491828	1	tier1	-	no_errors	ENST00000301284	ensembl	human	known	74_37	missense	11.27	63	8	SNP	1.000	G	G	4491828	A	G	4491828	3	3	57	1	0	0	0	0	1	0	0	0	7047	14	1	4	696	4	HDGFRP2	19	4491828	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09		4491828	54637155	338	14336											
DPP9	91039	genome.wustl.edu	37	chr19	4700277	4700277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagtttcaaggcaatcttgGgattcttgctgcctgcaaaa	10	12	9	10	0	3	0	1	0	2	0	3	1	3	1	2	2	3	4	2	2	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:4700277G>T	ENST00000598800.1	-	11	1443	c.938C>A	c.(937-939)cCc>cAc	p.P313H	DPP9_ENST00000597849.1_Missense_Mutation_p.P342H|DPP9_ENST00000594671.1_Missense_Mutation_p.P313H|DPP9_ENST00000262960.9_Missense_Mutation_p.P342H			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	313						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCAATCTTGGGATTCTTGCT	0.587																																																	0													39	41	41					19																	4700277		1928	4141	6069	SO:0001583	missense	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.938C>A	19.37:g.4700277G>T	ENSP00000469603:p.Pro313His		O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.P342H	ENST00000598800.1	37	c.1025		19	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147311	0.77888	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.37584	1.19	4.63	4.63	0.57726	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.055210	0.85682	D	0.000000	T	0.60856	0.2301	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.976;0.992	T	0.66337	-0.5949	10	0.87932	D	0	-29.9447	16.6532	0.85222	0.0:0.0:1.0:0.0	.	313;342	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	H	421;283;342	ENSP00000262960:P342H	ENSP00000262960:P342H	P	-	2	0	DPP9	4651277	1.000000	0.71417	0.998000	0.56505	0.775000	0.43874	9.286000	0.95898	2.403000	0.81681	0.655000	0.94253	CCC	DPP9	-	pfam_Peptidase_S9B	ENSG00000142002		0.587	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	-	0	30	0	G			4700277	-1	tier1	-	no_errors	ENST00000262960	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	4700277	G	T	4700277	3	4	57	1	0	0	0	0	1	0	0	0	4747	1232	43	3	1705	3	DPP9	19	4700277	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	208449	4700277	54428706	339	14337											
PTPRS	5802	genome.wustl.edu	37	chr19	5265128	5265128	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggctgcacagagcatGgtggctgtccgtgtccgctc	4	9	14	14	3	0	1	0	0	0	1	3	1	2	1	3	3	2	6	3	3	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:5265128G>T	ENST00000587303.1	-	4	558	c.459C>A	c.(457-459)acC>acA	p.T153T	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Silent_p.T153T|PTPRS_ENST00000262963.6_Silent_p.T153T|PTPRS_ENST00000588012.1_Silent_p.T153T|PTPRS_ENST00000372412.4_Silent_p.T153T|PTPRS_ENST00000592099.1_Silent_p.T153T|PTPRS_ENST00000348075.2_Silent_p.T153T|PTPRS_ENST00000357368.4_Silent_p.T153T			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	153	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CACAGAGCATGGTGGCTGTCC	0.602																																																	0													183	132	149					19																	5265128		2203	4300	6503	SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.459C>A	19.37:g.5265128G>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.T153	ENST00000587303.1	37	c.459	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105426		0.602	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	135	0	G			5265128	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.987	T	T	5265128	G	T	5265128	2	4	57	1	0	0	0	0	0	0	0	1	12856	1335	47	3		3	PTPRS	19	5265128	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	564851	5265128	53863855	340	14338											
ACTL9	284382	genome.wustl.edu	37	chr19	8808271	8808271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggaagtcggaggccaCgtagcaatagtggtgcttaa	10	10	13	8	2	1	0	0	0	1	0	2	2	1	2	1	4	2	3	1	4	5	4	rs142929347	byFrequency	TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:8808271C>T	ENST00000324436.3	-	1	901	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	261						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V261L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TCGGAGGCCACGTAGCAATAG	0.647																																																	1	Substitution - Missense(1)	lung(1)						C	MET/VAL	0,4406		0,0,2203	43	40	41		781	2.5	1	19	dbSNP_134	41	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ACTL9	NM_178525.3	21	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	261/417	8808271	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.781G>A	19.37:g.8808271C>T	ENSP00000316674:p.Val261Met		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V261M	ENST00000324436.3	37	c.781	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	c	13.83	2.355667	0.41700	0.0	3.49E-4	ENSG00000181786	ENST00000324436	D	0.97352	-4.35	4.63	2.45	0.29901	.	0.202150	0.24798	U	0.035516	D	0.95912	0.8669	M	0.80028	2.48	0.33746	D	0.620033	D	0.57571	0.98	P	0.45639	0.488	D	0.95327	0.8426	10	0.87932	D	0	.	5.6497	0.17610	0.1659:0.6586:0.0:0.1755	.	261	Q8TC94	ACTL9_HUMAN	M	261	ENSP00000316674:V261M	ENSP00000316674:V261M	V	-	1	0	ACTL9	8669271	0.996000	0.38824	0.992000	0.48379	0.120000	0.20174	2.245000	0.43133	0.646000	0.30693	0.306000	0.20318	GTG	ACTL9	-	pfam_Actin-related,smart_Actin-related	ENSG00000181786		0.647	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1		0	84	0	C	NM_178525		8808271	-1			no_errors	ENST00000324436	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	8808271	C	T	8808271	3	4	57	1	0	0	0	0	1	0	0	0	203	536	19	1	473	1	ACTL9	19	8808271	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	3543143	8808271	50320712	341	14339											
MUC16	94025	genome.wustl.edu	37	chr19	9049125	9049125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaatggaagttgtccaggGaactgttgggctggtctgtg	10	11	15	5	0	1	0	0	0	1	0	2	2	2	2	1	4	1	3	1	4	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:9049125G>T	ENST00000397910.4	-	5	32709	c.32506C>A	c.(32506-32508)Ccc>Acc	p.P10836T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10838	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTCCAGGGAACTGTTGGG	0.473																																																	0													153	138	143					19																	9049125		1951	4150	6101	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32506C>A	19.37:g.9049125G>T	ENSP00000381008:p.Pro10836Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P10836T	ENST00000397910.4	37	c.32506	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.128	0.021938	0.08006	.	.	ENSG00000181143	ENST00000397910	T	0.03181	4.02	3.1	-2.44	0.06502	.	.	.	.	.	T	0.03263	0.0095	N	0.24115	0.695	.	.	.	P	0.50819	0.939	P	0.44518	0.452	T	0.37384	-0.9708	8	0.87932	D	0	.	8.5913	0.33688	0.3153:0.0:0.6847:0.0	.	10836	B5ME49	.	T	10836	ENSP00000381008:P10836T	ENSP00000381008:P10836T	P	-	1	0	MUC16	8910125	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.229000	0.09098	-0.647000	0.05444	-0.383000	0.06682	CCC	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	93	0	G	NM_024690		9049125	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	T	T	9049125	G	T	9049125	3	4	57	1	0	0	0	0	1	0	0	0	10011	1174	41	3	11337	3	MUC16	19	9049125	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	240854	9049125	50079858	342	14340											
MUC16	94025	genome.wustl.edu	37	chr19	9061788	9061788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctggcttcttccacagagGgaaggctcggccatggcaca	9	7	13	12	1	1	1	0	0	1	1	3	2	2	2	2	5	1	4	2	5	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:9061788G>T	ENST00000397910.4	-	3	25861	c.25658C>A	c.(25657-25659)cCc>cAc	p.P8553H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8555	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCACAGAGGGAAGGCTCGG	0.507																																																	0													66	67	67					19																	9061788		2002	4161	6163	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25658C>A	19.37:g.9061788G>T	ENSP00000381008:p.Pro8553His		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P8553H	ENST00000397910.4	37	c.25658	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.332	0.060962	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.26810	1.71	3.05	0.789	0.18607	.	.	.	.	.	T	0.19927	0.0479	N	0.19112	0.55	.	.	.	D	0.59767	0.986	P	0.50162	0.633	T	0.24154	-1.0168	8	0.87932	D	0	.	5.5148	0.16900	0.2724:0.0:0.7276:0.0	.	8553	B5ME49	.	H	8553	ENSP00000381008:P8553H	ENSP00000381008:P8553H	P	-	2	0	MUC16	8922788	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.571000	0.05889	0.300000	0.22699	0.450000	0.29827	CCC	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	53	0	G	NM_024690		9061788	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T	T	9061788	G	T	9061788	3	4	57	1	0	0	0	0	1	0	0	0	10011	1232	43	3	18193	3	MUC16	19	9061788	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	12663	9061788	50067195	343	14341											
ZNF791	163049	genome.wustl.edu	37	chr19	12738936	12738936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgtggaaaagctcttaGttgttccagttcgcttcgag	9	13	11	8	2	1	0	0	0	1	0	4	2	2	1	1	1	1	6	1	1	4	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:12738936G>T	ENST00000343325.4	+	4	755	c.593G>T	c.(592-594)aGt>aTt	p.S198I	AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S166I|ZNF791_ENST00000540038.1_Missense_Mutation_p.S89I|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAGCTCTTAGTTGTTCCAGT	0.408																																																	0													64	66	65					19																	12738936		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.593G>T	19.37:g.12738936G>T	ENSP00000342974:p.Ser198Ile		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S198I	ENST00000343325.4	37	c.593	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	0.743	-0.775803	0.02951	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.05025	3.51;3.51;3.51	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.17278	0.47	0.09310	N	0.999999	P	0.37864	0.61	B	0.31686	0.134	T	0.44620	-0.9316	9	0.27082	T	0.32	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	198	Q3KP31	ZN791_HUMAN	I	198;180;166;89	ENSP00000342974:S198I;ENSP00000441761:S166I;ENSP00000441038:S89I	ENSP00000342974:S198I	S	+	2	0	ZNF791	12599936	0.000000	0.05858	0.067000	0.19924	0.531000	0.34715	-0.369000	0.07533	1.007000	0.39238	0.491000	0.48974	AGT	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0	69	0	G	NM_153358		12738936	1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	6.90	53	4	SNP	0.009	T	T	12738936	G	T	12738936	3	4	57	1	0	0	0	0	1	0	0	0	18211	1029	36	3	607	3	ZNF791	19	12738936	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3677148	12738936	46390047	344	14342											
TNPO2	30000	genome.wustl.edu	37	chr19	12817606	12817606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaccatgccctgcatgCagcctacaaggaaagggaac	13	4	12	12	0	0	0	0	0	0	0	0	2	0	2	3	3	6	3	3	3	4	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:12817606C>T	ENST00000592287.1	-	13	1382	c.1274G>A	c.(1273-1275)tGc>tAc	p.C425Y	TNPO2_ENST00000441499.1_Missense_Mutation_p.C425Y|TNPO2_ENST00000588216.1_Missense_Mutation_p.C425Y|TNPO2_ENST00000450764.2_Missense_Mutation_p.C425Y|TNPO2_ENST00000356861.5_Missense_Mutation_p.C425Y|TNPO2_ENST00000425528.1_Missense_Mutation_p.C425Y|SNORD41_ENST00000386967.1_RNA	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	425					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCCTGCATGCAGCCTACAAG	0.587																																																	0													16	16	16					19																	12817606		2100	4242	6342	SO:0001583	missense	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1274G>A	19.37:g.12817606C>T	ENSP00000468434:p.Cys425Tyr		O14655|Q6IN77	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.C425Y	ENST00000592287.1	37	c.1274	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062151	0.76187	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	4.94	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87249	0.6130	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.91341	0.5097	10	0.87932	D	0	-8.454	16.9454	0.86228	0.0:1.0:0.0:0.0	.	589;425	Q4LE60;O14787	.;TNPO2_HUMAN	Y	589;425;425;425;425;425;425	ENSP00000407182:C425Y;ENSP00000389648:C425Y;ENSP00000397379:C425Y;ENSP00000349321:C425Y	ENSP00000349321:C425Y	C	-	2	0	TNPO2	12678606	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.434000	0.80377	2.298000	0.77334	0.655000	0.94253	TGC	TNPO2	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000105576		0.587	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	-	0	58	0	C	NM_013433		12817606	-1	tier1	-	no_errors	ENST00000425528	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	12817606	C	T	12817606	3	4	57	1	0	0	0	0	1	0	0	0	16383	710	25	3	1467	3	TNPO2	19	12817606	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	78670	12817606	46311377	345	14343											
AKAP8L	26993	genome.wustl.edu	37	chr19	15514370	15514370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagcgctggttaattctgGataaaacggaatcggcactg	12	10	11	8	3	1	0	0	0	1	0	2	2	1	2	0	4	2	3	0	4	5	4	rs372294703		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:15514370G>T	ENST00000397410.5	-	4	408	c.278C>A	c.(277-279)tCc>tAc	p.S93Y	AKAP8L_ENST00000595465.2_Intron|AKAP8L_ENST00000595879.1_5'Flank	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	93						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTAATTCTGGATAAAACGGA	0.522																																																	0													125	127	127					19																	15514370		2047	4204	6251	SO:0001583	missense	0			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"neighbor of A kinase anchoring protein 95"	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.278C>A	19.37:g.15514370G>T	ENSP00000380557:p.Ser93Tyr		B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.S93Y	ENST00000397410.5	37	c.278	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831932	0.71258	.	.	ENSG00000011243	ENST00000397410	T	0.51071	0.72	5.33	5.33	0.75918	.	0.069990	0.56097	D	0.000029	T	0.51109	0.1655	N	0.24115	0.695	0.33461	D	0.584945	D;D	0.71674	0.998;0.995	D;P	0.63381	0.914;0.854	T	0.64364	-0.6425	10	0.87932	D	0	-15.1454	12.3109	0.54927	0.0:0.1705:0.8295:0.0	.	93;93	B3KMD4;Q9ULX6	.;AKP8L_HUMAN	Y	93	ENSP00000380557:S93Y	ENSP00000380557:S93Y	S	-	2	0	AKAP8L	15375370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.805000	0.55575	2.492000	0.84095	0.561000	0.74099	TCC	AKAP8L	-	NULL	ENSG00000011243		0.522	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	-	0	68	0	G	NM_014371		15514370	-1	tier1	-	no_errors	ENST00000397410	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	15514370	G	T	15514370	3	4	57	1	0	0	0	0	1	0	0	0	458	1174	41	3	1706	3	AKAP8L	19	15514370	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2696764	15514370	43614613	346	14344											
CCDC124	115098	genome.wustl.edu	37	chr19	18053577	18053577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcgccgcgggtggccaCgtccagcaaggtcacccggg	7	3	16	15	5	1	0	1	0	0	0	2	0	2	0	4	5	1	1	4	5	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:18053577C>T	ENST00000597436.1	+	3	379	c.272C>T	c.(271-273)aCg>aTg	p.T91M	CCDC124_ENST00000445755.2_Missense_Mutation_p.T91M	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	91					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						CGGGTGGCCACGTCCAGCAAG	0.687																																																	0													29	26	27					19																	18053577		1971	3863	5834	SO:0001583	missense	0			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.272C>T	19.37:g.18053577C>T	ENSP00000471455:p.Thr91Met			Missense_Mutation	SNP	pfam_DUF1014,superfamily_HMG_box_dom	p.T91M	ENST00000597436.1	37	c.272	CCDS12369.1	19	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074589	0.20227	.	.	ENSG00000007080	ENST00000445755	T	0.46451	0.87	3.72	-0.534	0.11883	.	0.974427	0.08434	N	0.946545	T	0.24275	0.0588	L	0.29908	0.895	0.09310	N	1	B	0.32893	0.389	B	0.21151	0.033	T	0.15435	-1.0437	10	0.49607	T	0.09	.	4.7046	0.12844	0.3559:0.5199:0.0:0.1242	.	91	Q96CT7	CC124_HUMAN	M	91	ENSP00000408730:T91M	ENSP00000408730:T91M	T	+	2	0	CCDC124	17914577	0.001000	0.12720	0.000000	0.03702	0.476000	0.33039	0.511000	0.22739	0.010000	0.14839	0.462000	0.41574	ACG	CCDC124	-	NULL	ENSG00000007080		0.687	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	-	0	44	0	C	NM_138442		18053577	1	tier1	-	no_errors	ENST00000445755	ensembl	human	known	74_37	missense	55.00	9	11	SNP	0.000	T	T	18053577	C	T	18053577	3	4	57	1	0	0	0	0	1	0	0	0	2767	536	19	1	278	1	CCDC124	19	18053577	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	2539207	18053577	41075406	347	14345											
KIAA0892	23383	genome.wustl.edu	37	chr19	19448017	19448017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagccgctgctgcggaaggcGatccagatctcacagcagac	11	5	12	13	3	1	2	1	0	1	2	3	4	2	3	2	2	4	3	2	2	2	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:19448017G>A	ENST00000392313.6	+	4	578	c.399G>A	c.(397-399)gcG>gcA	p.A133A	MAU2_ENST00000262815.8_Silent_p.A133A|MAU2_ENST00000586189.3_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	133					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCGGAAGGCGATCCAGATCT	0.552																																																	0													48	52	50					19																	19448017		1961	4145	6106	SO:0001819	synonymous_variant	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.399G>A	19.37:g.19448017G>A			Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.A133	ENST00000392313.6	37	c.399	CCDS32969.2	19																																																																																			MAU2	-	pfam_Cohesin_loading_factor,smart_TPR_repeat	ENSG00000129933		0.552	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	-	0	38	0	G	NM_015329		19448017	1	tier1	-	no_errors	ENST00000262815	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.000	A	A	19448017	G	A	19448017	2	1	57	1	0	0	0	0	0	0	0	1	8223	1045	37	1		1	KIAA0892	19	19448017	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	1394440	19448017	39680966	348	14346											
ZNF626	199777	genome.wustl.edu	37	chr19	20807354	20807354	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccagtatgaattctcctAtgtgtagtaaggattgagga	11	14	10	6	0	2	2	0	2	2	0	4	4	2	4	2	2	0	3	2	2	5	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:20807354A>G	ENST00000601440.1	-	4	1475	c.1329T>C	c.(1327-1329)caT>caC	p.H443H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	443					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GAATTCTCCTATGTGTAGTAA	0.373																																																	0													65	59	61					19																	20807354		2109	4259	6368	SO:0001819	synonymous_variant	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1329T>C	19.37:g.20807354A>G			Q8N8T4|Q96QM1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H443	ENST00000601440.1	37	c.1329	CCDS42535.1	19																																																																																			ZNF626	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188171		0.373	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2		0	26	0	A	NM_145297		20807354	-1			no_errors	ENST00000601440	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.941	G	G	20807354	A	G	20807354	2	3	57	1	0	0	0	0	0	0	0	1	18098	446	16	4		4	ZNF626	19	20807354	Silent	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	1359337	20807354	38321629	349	14347											
ZNF99	7652	genome.wustl.edu	37	chr19	22939535	22939535	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccccagtatgaattatcTtatgtttcataagggttgag	10	16	8	7	0	3	2	1	2	2	0	4	2	3	2	2	1	0	3	2	1	5	6	rs74170737		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:22939535T>C	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Missense_Mutation_p.K879R|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCAT	0.348																																																	0													35	47	44					19																	22939535		1865	4207	6072	SO:0001628	intergenic_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939535T>C			M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K879R	ENST00000596209.1	37	c.2636	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	7.428	0.638174	0.14386	.	.	ENSG00000213973	ENST00000397104	T	0.49720	0.77	1.32	0.146	0.14833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55784	0.1942	.	.	.	0.09310	N	1	D	0.60160	0.987	D	0.68483	0.958	T	0.43426	-0.9392	8	0.49607	T	0.09	.	2.0533	0.03575	0.2565:0.1821:0.0:0.5614	.	879	A8MXY4	ZNF99_HUMAN	R	879	ENSP00000380293:K879R	ENSP00000380293:K879R	K	-	2	0	ZNF99	22731375	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.016000	0.13377	-0.202000	0.10268	0.138000	0.15974	AAG	ZNF99	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	27	0	T	XM_065124		22939535	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	41.18	20	14	SNP	0.281	C	C	22939535	T	C	22939535	1	2	57	0	1	0	0	0	0	0	0	0	18252	1609	56	4		4	ZNF99	19	22939535	IGR	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	2132181	22939535	36189448	350	14348											
ZNF585B	92285	genome.wustl.edu	37	chr19	37677678	37677678	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaatcttgagtgtggacTtttgtgtgaacgctttgcca	8	15	12	6	1	1	3	0	3	1	0	1	5	1	4	1	1	2	1	1	1	2	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:37677678T>C	ENST00000532828.2	-	5	1012	c.761A>G	c.(760-762)aAg>aGg	p.K254R	ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.K199R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGTGTGGACTTTTGTGTGAA	0.418																																					Melanoma(93;882 1454 18863 28917 48427)												0													184	179	180					19																	37677678		2203	4300	6503	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.761A>G	19.37:g.37677678T>C	ENSP00000433773:p.Lys254Arg		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K254R	ENST00000532828.2	37	c.761	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	T	0	-2.746519	0.00086	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.15834	2.39;2.39	2.28	1.23	0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39407	N	0.001375	T	0.09247	0.0228	N	0.11284	0.12	0.19300	N	0.999971	B;D	0.55172	0.019;0.97	B;P	0.48704	0.012;0.587	T	0.26643	-1.0097	10	0.14656	T	0.56	.	6.4859	0.22089	0.0:0.1477:0.0:0.8523	.	199;254	E9PQH3;Q52M93	.;Z585B_HUMAN	R	199;254	ENSP00000436774:K199R;ENSP00000433773:K254R	ENSP00000436774:K199R	K	-	2	0	ZNF585B	42369518	0.000000	0.05858	0.995000	0.50966	0.006000	0.05464	-0.877000	0.04197	1.043000	0.40175	0.254000	0.18369	AAG	ZNF585B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000245680		0.418	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0	76	0	T	NM_152279		37677678	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	84.88	13	73	SNP	0.001	C	C	37677678	T	C	37677678	3	2	57	1	0	0	0	0	1	0	0	0	18066	1609	56	4	1552	4	ZNF585B	19	37677678	Missense_Mutation	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	14738143	37677678	21451305	351	14349											
RPS19	6223	genome.wustl.edu	37	chr19	42364855	42364855	+	Frame_Shift_Del	DEL	T	T	-																															tctccctcagatgcctggagTtactgtaaaagacgtgaacc																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:42364855delT	ENST00000598742.1	+	2	383	c.11delT	c.(10-12)gttfs	p.V4fs	RPS19_ENST00000593863.1_Frame_Shift_Del_p.V4fs|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	4					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						ATGCCTGGAGTTACTGTAAAA	0.552									Diamond-Blackfan Anemia																																								0													142	143	142					19																	42364855		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.11delT	19.37:g.42364855delT	ENSP00000470972:p.Val4fs			Frame_Shift_Del	DEL	pfam_Ribosomal_S19e	p.T5fs	ENST00000598742.1	37	c.11	CCDS12588.1	19																																																																																			RPS19	-	pfam_Ribosomal_S19e	ENSG00000105372		0.552	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1		0	59	0	T	NM_001022		42364855	1	tier1		no_errors	ENST00000593863	ensembl	human	known	74_37	frame_shift_del	9.80	46	5	DEL	1.000	-	-	42364855	T	-	42364855	7	5	57	1	0	1	0	1	0	0	0	0	13674	1725	60	0	13	0	RPS19	19	42364855	Frame_Shift_Del	DEL	T	TCGA-L5-A4OH-01A-11D-A27G-09	4687177	42364855	16764128	352	14350	55	2									
RPS19	6223	genome.wustl.edu	37	chr19	42364858	42364858	+	Missense_Mutation	SNP	C	C	A																															ccctcagatgcctggagttaCtgtaaaagacgtgaaccagc																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:42364858C>A	ENST00000598742.1	+	2	386	c.14C>A	c.(13-15)aCt>aAt	p.T5N	RPS19_ENST00000593863.1_Missense_Mutation_p.T5N|RPS19_ENST00000221975.2_5'UTR	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	5					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|monocyte chemotaxis (GO:0002548)|mRNA metabolic process (GO:0016071)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleolus organization (GO:0007000)|positive regulation of cellular component movement (GO:0051272)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|protein tetramerization (GO:0051262)|response to extracellular stimulus (GO:0009991)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						CCTGGAGTTACTGTAAAAGAC	0.552									Diamond-Blackfan Anemia																																								0			GRCh37	CI994529	RPS19	I							144	144	144					19																	42364858		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	DBA, Congenital Hypoplastic Anemia, Blackfan-Diamond Anemia, incl.: Aase syndrome	BC000023	CCDS12588.1	19q13.2	2011-04-05				ENSG00000105372		"S ribosomal proteins"	10402	protein-coding gene	gene with protein product	"Diamond-Blackfan anemia"	603474				9582194	Standard	NM_001022		Approved	DBA, S19	uc002ort.3	P39019		ENST00000598742.1:c.14C>A	19.37:g.42364858C>A	ENSP00000470972:p.Thr5Asn			Missense_Mutation	SNP	pfam_Ribosomal_S19e	p.T5N	ENST00000598742.1	37	c.14	CCDS12588.1	19	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605715	0.46527	.	.	ENSG00000105372	ENST00000221975	.	.	.	4.53	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.77103	2.36	0.53688	D	0.999977	P	0.35107	0.484	B	0.41813	0.367	T	0.64884	-0.6302	9	0.66056	D	0.02	-2.5102	8.1538	0.31156	0.0:0.7472:0.161:0.0918	.	5	P39019	RS19_HUMAN	N	5	.	ENSP00000221975:T5N	T	+	2	0	RPS19	47056698	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	5.113000	0.64640	0.602000	0.29896	-0.175000	0.13238	ACT	RPS19	-	pfam_Ribosomal_S19e	ENSG00000105372		0.552	RPS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS19	HGNC	protein_coding	OTTHUMT00000463049.1	-	0	58	0	C	NM_001022		42364858	1	tier1	-	no_errors	ENST00000593863	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	A	A	42364858	C	A	42364858	3	1	57	1	0	0	0	0	1	0	0	0	13674	565	20	3	16	3	RPS19	19	42364858	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	3	42364858	16764125	353	14351	55	2									
MEGF8	1954	genome.wustl.edu	37	chr19	42860099	42860099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctggcccacactgccGcatggctctgtgtcctgaga	5	9	13	14	1	1	1	0	1	1	1	2	2	2	1	3	3	1	3	3	3	0	0	rs138904325		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:42860099G>T	ENST00000251268.6	+	24	4334	c.4334G>T	c.(4333-4335)cGc>cTc	p.R1445L	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1378L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1445	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCACACTGCCGCATGGCTCTG	0.662																																																	0								G	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	40	36	37		4133	3.7	1	19	dbSNP_134	37	0,8600		0,0,4300	no	missense	MEGF8	NM_001410.2	102	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	1378/2779	42860099	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4334G>T	19.37:g.42860099G>T	ENSP00000251268:p.Arg1445Leu		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R1445L	ENST00000251268.6	37	c.4334		19	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907388	0.52333	2.27E-4	0.0	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20598	2.06;2.06	4.76	3.67	0.42095	Epidermal growth factor-like, type 3 (1);	0.159204	0.43747	D	0.000539	T	0.20981	0.0505	N	0.08118	0	0.80722	D	1	P;D	0.69078	0.874;0.997	B;P	0.58172	0.35;0.834	T	0.12915	-1.0529	10	0.40728	T	0.16	-32.2945	15.0908	0.72192	0.0:0.1551:0.8448:0.0	.	1445;1378	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	L	1378;1445	ENSP00000334219:R1378L;ENSP00000251268:R1445L	ENSP00000251268:R1445L	R	+	2	0	MEGF8	47551939	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	3.201000	0.51059	2.490000	0.84030	0.563000	0.77884	CGC	MEGF8	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000105429		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0	84	0	G	NM_001410		42860099	1	tier1	rs138904325	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.998	T	T	42860099	G	T	42860099	3	4	57	1	0	0	0	0	1	0	0	0	9501	1087	38	2	4223	2	MEGF8	19	42860099	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	495241	42860099	16268884	354	14352											
NPAS1	4861	genome.wustl.edu	37	chr19	47539368	47539368	+	Silent	SNP	T	T	G																															tcctcctcttcctcttcgctTgcagatacccccgagatcgg																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:47539368T>G	ENST00000602212.1	+	6	889	c.669T>G	c.(667-669)ctT>ctG	p.L223L	NPAS1_ENST00000449844.2_Silent_p.L223L|NPAS1_ENST00000439365.2_Silent_p.L47L|NPAS1_ENST00000602189.1_Silent_p.L47L			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	223					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		cctcttcGCTTGCAGATACCC	0.622											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													7	8	7					19																	47539368		2170	4241	6411	SO:0001819	synonymous_variant	0			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.669T>G	19.37:g.47539368T>G		947	B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.L223	ENST00000602212.1	37	c.669	CCDS12694.1	19																																																																																			NPAS1	-	NULL	ENSG00000130751		0.622	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	-	0	30	0	T	NM_002517		47539368	1	tier1	-	no_errors	ENST00000449844	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.812	G	G	47539368	T	G	47539368	2	3	57	1	0	0	0	0	0	0	0	1	10601	1799	63	4		4	NPAS1	19	47539368	Silent	SNP	T	TCGA-L5-A4OH-01A-11D-A27G-09	4679269	47539368	11589615	355	14353	56	2									
NPAS1	4861	genome.wustl.edu	37	chr19	47539377	47539377	+	Silent	SNP	C	C	A																															tcctcttcgcttgcagatacCcccgagatcggtaattctaa																										TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:47539377C>A	ENST00000602212.1	+	6	898	c.678C>A	c.(676-678)acC>acA	p.T226T	NPAS1_ENST00000449844.2_Silent_p.T226T|NPAS1_ENST00000439365.2_Silent_p.T50T|NPAS1_ENST00000602189.1_Silent_p.T50T			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	226					central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TTGCAGATACCCCCGAGATCG	0.602											OREG0025586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													6	7	7					19																	47539377		2160	4214	6374	SO:0001819	synonymous_variant	0			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"Basic helix-loop-helix proteins"	7894	protein-coding gene	gene with protein product	"neuronal PAS1", "member of PAS superfamily 5"	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.678C>A	19.37:g.47539377C>A		947	B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.T226	ENST00000602212.1	37	c.678	CCDS12694.1	19																																																																																			NPAS1	-	NULL	ENSG00000130751		0.602	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	-	0	24	0	C	NM_002517		47539377	1	tier1	-	no_errors	ENST00000449844	ensembl	human	known	74_37	silent	44.83	16	13	SNP	0.747	A	A	47539377	C	A	47539377	2	1	57	1	0	0	0	0	0	0	0	1	10601	610	22	3		3	NPAS1	19	47539377	Silent	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	9	47539377	11589606	356	14354	56	2									
ZNF473	25888	genome.wustl.edu	37	chr19	50542467	50542467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcaccttgggagactGggagcagctcgggctggaac	8	7	16	10	1	1	1	1	0	0	1	2	5	1	4	1	5	3	3	1	5	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:50542467G>T	ENST00000595661.1	+	4	554	c.59G>T	c.(58-60)tGg>tTg	p.W20L	ZNF473_ENST00000445728.3_Missense_Mutation_p.W8L|ZNF473_ENST00000270617.3_Missense_Mutation_p.W20L|ZNF473_ENST00000601364.1_Missense_Mutation_p.W20L|ZNF473_ENST00000391821.2_Missense_Mutation_p.W20L			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TTGGGAGACTGGGAGCAGCTC	0.582																																																	0													207	166	180					19																	50542467		2203	4300	6503	SO:0001583	missense	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.59G>T	19.37:g.50542467G>T	ENSP00000472808:p.Trp20Leu		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W20L	ENST00000595661.1	37	c.59	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711668	0.48517	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09630	2.96;2.96;2.96	5.11	4.08	0.47627	Krueppel-associated box (4);	0.000000	0.38548	N	0.001648	T	0.34308	0.0893	M	0.86268	2.805	0.37728	D	0.925177	D	0.89917	1.0	D	0.83275	0.996	T	0.23833	-1.0177	10	0.66056	D	0.02	-15.7781	11.4384	0.50081	0.0891:0.0:0.9109:0.0	.	20	Q8WTR7	ZN473_HUMAN	L	20;20;8	ENSP00000270617:W20L;ENSP00000375697:W20L;ENSP00000388961:W8L	ENSP00000270617:W20L	W	+	2	0	ZNF473	55234279	1.000000	0.71417	0.988000	0.46212	0.006000	0.05464	3.585000	0.53943	2.833000	0.97629	0.650000	0.86243	TGG	ZNF473	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000142528		0.582	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	-	0	84	0	G	XM_046390		50542467	1	tier1	-	no_errors	ENST00000270617	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.995	T	T	50542467	G	T	50542467	3	4	57	1	0	0	0	0	1	0	0	0	17979	1357	47	3	65	3	ZNF473	19	50542467	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3003090	50542467	8586516	357	14355											
ZNF616	90317	genome.wustl.edu	37	chr19	52618234	52618234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctgagggaaaacaacCgcccaaaggctttgccacat	12	8	10	11	1	0	1	0	1	0	0	0	2	0	2	3	2	4	3	3	2	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:52618234C>T	ENST00000600228.1	-	4	2444	c.2183G>A	c.(2182-2184)cGg>cAg	p.R728Q	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	728					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R728Q(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGAAAACAACCGCCCAAAGGC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											134	134	134					19																	52618234		2203	4300	6503	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2183G>A	19.37:g.52618234C>T	ENSP00000471000:p.Arg728Gln		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R728Q	ENST00000600228.1	37	c.2183	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271409	0.05716	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.8	-1.01	0.10169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.05259	-0.085	0.09310	N	1	P	0.38020	0.615	B	0.21151	0.033	T	0.29119	-1.0022	8	0.05959	T	0.93	.	5.4344	0.16472	0.0:0.346:0.0:0.654	.	728	Q08AN1	ZN616_HUMAN	Q	728	.	ENSP00000328722:R728Q	R	-	2	0	ZNF616	57310046	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.171000	0.00573	-0.580000	0.05944	-0.350000	0.07774	CGG	ZNF616	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204611		0.408	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0	74	0	C	XM_030892		52618234	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	missense	12.66	69	10	SNP	0.010	T	T	52618234	C	T	52618234	3	4	57	1	0	0	0	0	1	0	0	0	18089	652	23	1	166	1	ZNF616	19	52618234	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	2075767	52618234	6510749	358	14356											
ZNF835	90485	genome.wustl.edu	37	chr19	57176549	57176549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgccctggagggcgacGctcaagagtccctccatcct	6	8	11	16	3	2	1	1	0	1	1	5	3	5	2	4	2	1	1	4	2	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr19:57176549G>T	ENST00000537055.2	-	2	249	c.18C>A	c.(16-18)agC>agA	p.S6R		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGAGGGCGACGCTCAAGAGTC	0.507																																																	0													60	62	61					19																	57176549		1956	4145	6101	SO:0001583	missense	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.18C>A	19.37:g.57176549G>T	ENSP00000444747:p.Ser6Arg		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S6R	ENST00000537055.2	37	c.18	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	g	8.062	0.768396	0.15983	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.06608	3.28	2.19	-3.13	0.05266	.	.	.	.	.	T	0.03053	0.0090	N	0.19112	0.55	0.09310	N	1	B	0.25312	0.123	B	0.23150	0.044	T	0.47560	-0.9108	9	0.15066	T	0.55	.	3.7962	0.08740	0.28:0.4029:0.3172:0.0	.	28	Q9Y2P0	ZN835_HUMAN	R	28;6	ENSP00000444747:S6R	ENSP00000341756:S28R	S	-	3	2	ZNF835	61868361	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.970000	0.03810	-0.648000	0.05437	-0.979000	0.02580	AGC	ZNF835	-	NULL	ENSG00000127903		0.507	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1		0	56	0	G	NM_001005850		57176549	-1			no_errors	ENST00000537055	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.000	T	T	57176549	G	T	57176549	3	4	57	1	0	0	0	0	1	0	0	0	18234	1078	38	2	1597	2	ZNF835	19	57176549	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4558315	57176549	1952434	359	14357											
LRRN4	164312	genome.wustl.edu	37	chr20	6022628	6022628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccgtgcatcgctgtgCggccatgcagctatcgtgcg	4	9	12	16	5	0	0	0	0	0	0	3	0	1	0	3	1	5	4	3	1	1	1			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:6022628C>T	ENST00000378858.4	-	5	1487	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	421					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CATCGCTGTGCGGCCATGCAG	0.682																																																	0													70	65	67					20																	6022628		2203	4300	6503	SO:0001819	synonymous_variant	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1263G>A	20.37:g.6022628C>T			A8K258|Q5JWV6|Q9H419	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P421	ENST00000378858.4	37	c.1263	CCDS13097.1	20																																																																																			LRRN4	-	NULL	ENSG00000125872		0.682	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2		0	86	0	C	NM_152611		6022628	-1			no_errors	ENST00000378858	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.000	T	T	6022628	C	T	6022628	2	4	57	1	0	0	0	0	0	0	0	1	9072	755	27	1		1	LRRN4	20	6022628	Silent	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09		6022628	57002892	360	14358											
ANKRD5	63926	genome.wustl.edu	37	chr20	10036201	10036201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatcaggaagagggaactaCggcgagagaggtttacacat	14	7	14	6	2	1	3	1	1	0	2	1	7	1	5	0	4	3	1	0	4	4	3	rs139719301		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:10036201C>T	ENST00000378380.3	+	10	2553	c.2224C>T	c.(2224-2226)Cgg>Tgg	p.R742W	ANKEF1_ENST00000378392.1_Missense_Mutation_p.R742W|SNAP25-AS1_ENST00000421143.2_RNA|AL109754.1_ENST00000408554.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	742			R -> Q (in dbSNP:rs6087119).				calcium ion binding (GO:0005509)										GAGGGAACTACGGCGAGAGAG	0.463																																																	0								C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	93	86	89		2224,2224	1.5	0	20	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANKRD5	NM_022096.4,NM_198798.1	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	742/777,742/777	10036201	1,13005	2203	4300	6503	SO:0001583	missense	0			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"EF-hand domain containing", "Ankyrin repeat domain containing"	15803	protein-coding gene	gene with protein product			"ankyrin repeat domain 5"	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.2224C>T	20.37:g.10036201C>T	ENSP00000367631:p.Arg742Trp		B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt	p.R742W	ENST00000378380.3	37	c.2224	CCDS13108.1	20	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653143	0.47362	0.0	1.16E-4	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.70749	-0.51;-0.51	5.64	1.51	0.23008	.	0.265080	0.37053	N	0.002276	T	0.69287	0.3094	L	0.58101	1.795	0.38695	D	0.952857	D	0.65815	0.995	P	0.49387	0.609	T	0.69669	-0.5083	10	0.56958	D	0.05	-9.5472	9.5276	0.39173	0.367:0.5696:0.0:0.0634	.	742	Q9NU02	ANKR5_HUMAN	W	742	ENSP00000367644:R742W;ENSP00000367631:R742W	ENSP00000367631:R742W	R	+	1	2	ANKRD5	9984201	0.020000	0.18652	0.032000	0.17829	0.793000	0.44817	0.123000	0.15708	0.056000	0.16144	-0.844000	0.03045	CGG	ANKEF1	-	NULL	ENSG00000132623		0.463	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKEF1	HGNC	protein_coding	OTTHUMT00000077968.2	-	0	55	0	C	NM_022096		10036201	1	tier1	rs139719301	no_errors	ENST00000378380	ensembl	human	known	74_37	missense	11.43	62	8	SNP	0.887	T	T	10036201	C	T	10036201	3	4	57	1	0	0	0	0	1	0	0	0	676	527	19	1	2258	1	ANKRD5	20	10036201	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	4013573	10036201	52989319	361	14359											
GDF5	8200	genome.wustl.edu	37	chr20	34025306	34025306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggacagatcctgcttttgGgggtgccttgcctccgggaa	5	10	16	10	1	0	1	0	0	0	1	2	3	2	3	4	5	3	1	4	5	1	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:34025306G>T	ENST00000374372.1	-	3	906	c.403C>A	c.(403-405)Cca>Aca	p.P135T	GDF5_ENST00000374369.3_Missense_Mutation_p.P135T			P43026	GDF5_HUMAN	growth differentiation factor 5	135					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTGCTTTTGGGGGTGCCTTG	0.662																																																	0													55	61	59					20																	34025306		2203	4300	6503	SO:0001583	missense	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.403C>A	20.37:g.34025306G>T	ENSP00000363492:p.Pro135Thr		E1P5Q2|Q96SB1	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.P135T	ENST00000374372.1	37	c.403	CCDS13254.1	20	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.230188	0.00280	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.78246	-1.16;-1.16	4.39	1.29	0.21616	.	1.197820	0.05972	N	0.642581	T	0.54351	0.1853	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38243	-0.9670	10	0.08837	T	0.75	.	2.003	0.03471	0.2365:0.134:0.4918:0.1377	.	135;135	F1T0J1;P43026	.;GDF5_HUMAN	T	135	ENSP00000363489:P135T;ENSP00000363492:P135T	ENSP00000363489:P135T	P	-	1	0	GDF5	33488720	0.973000	0.33851	0.917000	0.36280	0.662000	0.39071	1.141000	0.31528	0.114000	0.18032	0.313000	0.20887	CCA	GDF5	-	NULL	ENSG00000125965		0.662	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2		0	30	0	G			34025306	-1			no_errors	ENST00000374369	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.308	T	T	34025306	G	T	34025306	3	4	57	1	0	0	0	0	1	0	0	0	6342	1232	43	3	1110	3	GDF5	20	34025306	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	23989105	34025306	29000214	362	14360											
SAMHD1	25939	genome.wustl.edu	37	chr20	35539668	35539668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcaattgctgtagaaatgCgatacttttttcctccagca	10	14	7	10	2	1	1	1	0	0	1	3	2	3	1	2	0	4	3	2	0	4	6	rs140417977		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:35539668C>G	ENST00000262878.4	-	11	1422	c.1223G>C	c.(1222-1224)cGc>cCc	p.R408P		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	408					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TGTAGAAATGCGATACTTTTT	0.358																																																	0													148	126	133					20																	35539668		2203	4300	6503	SO:0001583	missense	0			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"Sterile alpha motif (SAM) domain containing"	15925	protein-coding gene	gene with protein product	"HD domain containing 1", "monocyte protein 5", "Aicardi-Goutieres syndrome 5"	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1223G>C	20.37:g.35539668C>G	ENSP00000262878:p.Arg408Pro		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.R408P	ENST00000262878.4	37	c.1223	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	C	7.124	0.578474	0.13686	.	.	ENSG00000101347	ENST00000262878	D	0.95035	-3.59	5.29	-10.0	0.00425	.	1.685210	0.03147	N	0.167436	D	0.89107	0.6621	L	0.45137	1.4	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.75033	-0.3460	10	0.13853	T	0.58	-2.2311	11.4457	0.50123	0.0:0.5263:0.2757:0.198	.	408	Q9Y3Z3	SAMH1_HUMAN	P	408	ENSP00000262878:R408P	ENSP00000262878:R408P	R	-	2	0	SAMHD1	34973082	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-1.948000	0.01533	-1.691000	0.01430	-0.384000	0.06662	CGC	SAMHD1	-	NULL	ENSG00000101347		0.358	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	HGNC	protein_coding	OTTHUMT00000079062.2	-	0	64	0	C	NM_015474		35539668	-1	tier1	-	no_errors	ENST00000262878	ensembl	human	known	74_37	missense	5.93	221	14	SNP	0.000	G	G	35539668	C	G	35539668	3	3	57	1	0	0	0	0	1	0	0	0	13873	768	27	5	681	5	SAMHD1	20	35539668	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	1514362	35539668	27485852	363	14361											
CHD6	84181	genome.wustl.edu	37	chr20	40117239	40117239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaagactcctgaaaggggGtttccctgaggatgacacaa	12	9	12	8	0	0	5	0	4	0	1	2	6	2	6	2	3	0	1	2	3	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:40117239G>T	ENST00000373233.3	-	13	1863	c.1686C>A	c.(1684-1686)aaC>aaA	p.N562K	CHD6_ENST00000309279.7_Missense_Mutation_p.N562K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	562	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGAAAGGGGGTTTCCCTGAG	0.463																																																	0													61	61	61					20																	40117239		2203	4300	6503	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1686C>A	20.37:g.40117239G>T	ENSP00000362330:p.Asn562Lys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N562K	ENST00000373233.3	37	c.1686	CCDS13317.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.401|8.401	0.841867|0.841867	0.16963|0.16963	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.93247|.	-3.19;-3.19|.	5.12|5.12	1.03|1.03	0.20045|0.20045	DEAD-like helicase (2);SNF2-related (1);|.	0.000000|.	0.64402|.	D|.	0.000018|.	T|T	0.18425|0.18425	0.0442|0.0442	N|N	0.02674|0.02674	-0.535|-0.535	0.40656|0.40656	D|D	0.982087|0.982087	B|.	0.24963|.	0.115|.	B|.	0.24701|.	0.055|.	T|T	0.05716|0.05716	-1.0868|-1.0868	10|5	0.02654|.	T|.	1|.	-25.1208|-25.1208	5.5788|5.5788	0.17238|0.17238	0.3371:0.0:0.5413:0.1216|0.3371:0.0:0.5413:0.1216	.|.	562|.	Q8TD26|.	CHD6_HUMAN|.	K|N	562|265	ENSP00000362330:N562K;ENSP00000308684:N562K|.	ENSP00000308684:N562K|.	N|T	-|-	3|2	2|0	CHD6|CHD6	39550653|39550653	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	1.890000|1.890000	0.39728|0.39728	0.031000|0.031000	0.15407|0.15407	-0.137000|-0.137000	0.14449|0.14449	AAC|ACC	CHD6	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000124177		0.463	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1		0	36	0	G			40117239	-1			no_errors	ENST00000373233	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	40117239	G	T	40117239	3	4	57	1	0	0	0	0	1	0	0	0	3336	1252	44	3	6561	3	CHD6	20	40117239	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	4577571	40117239	22908281	364	14362											
PTPRT	11122	genome.wustl.edu	37	chr20	40944500	40944500	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaggttggcaggcttcaActcagcagcaaagtagtgta	12	8	13	8	0	2	0	2	0	0	0	2	0	2	0	0	4	3	8	0	4	4	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:40944500A>C	ENST00000373187.1	-	12	2001	c.2002T>G	c.(2002-2004)Ttg>Gtg	p.L668V	PTPRT_ENST00000373201.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373190.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373193.3_Missense_Mutation_p.L668V|PTPRT_ENST00000373184.1_Missense_Mutation_p.L668V|PTPRT_ENST00000373198.4_Missense_Mutation_p.L668V|PTPRT_ENST00000356100.2_Missense_Mutation_p.L668V			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	668	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCAGGCTTCAACTCAGCAGCA	0.517																																																	0													129	129	129					20																	40944500		2011	4158	6169	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2002T>G	20.37:g.40944500A>C	ENSP00000362283:p.Leu668Val		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L668V	ENST00000373187.1	37	c.2002	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615477	0.66672	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.19;1.23;1.18;1.18	5.57	-1.88	0.07713	.	0.000000	0.64402	D	0.000001	T	0.40347	0.1113	M	0.70595	2.14	0.47476	D	0.999434	P;P	0.41524	0.753;0.638	P;B	0.44811	0.461;0.175	T	0.48547	-0.9026	10	0.72032	D	0.01	.	12.7576	0.57345	0.4075:0.0:0.5925:0.0	.	668;668	O14522-1;O14522	.;PTPRT_HUMAN	V	668	ENSP00000362286:L668V;ENSP00000362283:L668V;ENSP00000362289:L668V;ENSP00000348408:L668V;ENSP00000362294:L668V;ENSP00000362280:L668V;ENSP00000362297:L668V	ENSP00000348408:L668V	L	-	1	2	PTPRT	40377914	0.033000	0.19621	0.401000	0.26359	0.994000	0.84299	0.049000	0.14099	-0.392000	0.07751	0.460000	0.39030	TTG	PTPRT	-	NULL	ENSG00000196090		0.517	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	104	0	A			40944500	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	19.77	142	35	SNP	0.707	C	C	40944500	A	C	40944500	3	2	57	1	0	0	0	0	1	0	0	0	12857	40	2	4	2464	4	PTPRT	20	40944500	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09	827261	40944500	22081020	365	14363											
SERINC3	10955	genome.wustl.edu	37	chr20	43132519	43132519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatctgaatccagtaaaGacccactctttgatggtgga	13	12	8	8	0	2	3	0	2	2	1	3	4	3	4	2	2	0	1	2	2	5	3			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:43132519G>T	ENST00000342374.4	-	8	1149	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	SERINC3_ENST00000541235.1_Missense_Mutation_p.S276Y|SERINC3_ENST00000255175.1_Missense_Mutation_p.S331Y	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	331					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATCCAGTAAAGACCCACTCTT	0.413																																																	0													114	118	116					20																	43132519		2203	4300	6503	SO:0001583	missense	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.992C>A	20.37:g.43132519G>T	ENSP00000340243:p.Ser331Tyr		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.S331Y	ENST00000342374.4	37	c.992	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	G	0.768	-0.766739	0.02974	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.39	-6.18	0.02085	.	0.903580	0.09959	N	0.733615	T	0.10508	0.0257	L	0.43923	1.385	0.09310	N	0.999996	B;B	0.09022	0.002;0.0	B;B	0.13407	0.009;0.005	T	0.38394	-0.9663	10	0.59425	D	0.04	.	9.4939	0.38976	0.0:0.1897:0.4331:0.3772	.	331;331	Q53GK8;Q13530	.;SERC3_HUMAN	Y	70;331;331;298;276	ENSP00000414197:S70Y;ENSP00000255175:S331Y;ENSP00000340243:S331Y;ENSP00000440966:S276Y	ENSP00000255175:S331Y	S	-	2	0	SERINC3	42565933	0.999000	0.42202	0.001000	0.08648	0.003000	0.03518	0.335000	0.19806	-0.815000	0.04346	-0.165000	0.13383	TCT	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.413	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0	55	0	G	NM_006811		43132519	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	missense	5.56	85	5	SNP	0.418	T	T	43132519	G	T	43132519	3	4	57	1	0	0	0	0	1	0	0	0	14126	942	33	3	441	3	SERINC3	20	43132519	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	2188019	43132519	19893001	366	14364											
MATN4	8785	genome.wustl.edu	37	chr20	43933120	43933120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcctctggcggtcgcgCgccctcggccacactgaagg	4	6	14	17	6	1	1	0	1	1	0	4	1	2	1	3	4	0	1	3	4	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:43933120C>T	ENST00000372754.1	-	2	399	c.391G>A	c.(391-393)Gcg>Acg	p.A131T	MATN4_ENST00000353917.5_Missense_Mutation_p.A131T|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.A131T|MATN4_ENST00000342716.4_Missense_Mutation_p.A131T|MATN4_ENST00000372756.1_Missense_Mutation_p.A131T|MATN4_ENST00000360607.6_Missense_Mutation_p.A131T			O95460	MATN4_HUMAN	matrilin 4	131	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCGGTCGCGCGCCCTCGGCC	0.726																																																	0													10	9	9					20																	43933120		2155	4235	6390	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.391G>A	20.37:g.43933120C>T	ENSP00000361840:p.Ala131Thr		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.A131T	ENST00000372754.1	37	c.391		20	.	.	.	.	.	.	.	.	.	.	C	31	5.102792	0.94245	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.81	4.81	0.61882	.	0.000000	0.43919	D	0.000519	D	0.92779	0.7704	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.997	D;D;P	0.72625	0.909;0.978;0.863	D	0.93523	0.6863	10	0.59425	D	0.04	.	17.0299	0.86458	0.0:1.0:0.0:0.0	.	131;131;131	A6NNA4;O95460-4;O95460-2	.;.;.	T	131	ENSP00000361840:A131T;ENSP00000361842:A131T;ENSP00000243983:A131T;ENSP00000353819:A131T;ENSP00000343164:A131T;ENSP00000440328:A131T	ENSP00000255132:A131T	A	-	1	0	MATN4	43366534	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.580000	0.82523	2.506000	0.84524	0.462000	0.41574	GCG	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.726	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	-	0	54	0	C			43933120	-1	tier1	-	no_errors	ENST00000372754	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T	T	43933120	C	T	43933120	3	4	57	1	0	0	0	0	1	0	0	0	9374	768	27	1	1386	1	MATN4	20	43933120	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	800601	43933120	19092400	367	14365											
C20orf106	200232	genome.wustl.edu	37	chr20	55100875	55100875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggagcagagtcctcctGgccttcgaggcggccaactt	8	7	13	13	2	0	1	0	0	0	1	3	4	2	2	4	4	2	1	4	4	1	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:55100875G>T	ENST00000371328.3	+	2	588	c.265G>T	c.(265-267)Ggc>Tgc	p.G89C	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	89						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											GAGTCCTCCTGGCCTTCGAGG	0.438																																																	0													136	143	141					20																	55100875		2203	4300	6503	SO:0001583	missense	0			AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 106"	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.265G>T	20.37:g.55100875G>T	ENSP00000360379:p.Gly89Cys		Q05C43	Missense_Mutation	SNP	NULL	p.G89C	ENST00000371328.3	37	c.265	CCDS33493.1	20	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344543	0.41498	.	.	ENSG00000124103	ENST00000371328	T	0.10192	2.9	4.03	-4.79	0.03200	.	1.211470	0.06204	N	0.683783	T	0.17280	0.0415	L	0.55481	1.735	0.09310	N	1	D	0.65815	0.995	P	0.55824	0.785	T	0.26189	-1.0110	10	0.72032	D	0.01	-0.5797	5.2512	0.15522	0.6499:0.0:0.1932:0.1569	.	89	Q5JX71	CT106_HUMAN	C	89	ENSP00000360379:G89C	ENSP00000360379:G89C	G	+	1	0	C20orf106	54534282	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.785000	0.04628	-1.030000	0.03312	0.411000	0.27672	GGC	FAM209A	-	NULL	ENSG00000124103		0.438	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209A	HGNC	protein_coding	OTTHUMT00000079815.2	-	0	30	0	G			55100875	1	tier1	-	no_errors	ENST00000371328	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T	T	55100875	G	T	55100875	3	4	57	1	0	0	0	0	1	0	0	0	2083	1348	47	3	271	3	C20orf106	20	55100875	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	11167755	55100875	7924645	368	14366											
BIRC7	79444	genome.wustl.edu	37	chr20	61870941	61870941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtccgcagccgcgtgcGcaccttcctgtcctaggcca	4	7	10	20	5	0	0	0	0	0	0	3	0	3	0	8	1	2	2	8	1	1	2	rs142521563		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr20:61870941G>T	ENST00000217169.3	+	6	1095	c.881G>T	c.(880-882)cGc>cTc	p.R294L	NKAIN4_ENST00000466885.1_5'Flank|MIR3196_ENST00000579556.1_RNA|BIRC7_ENST00000395306.1_Missense_Mutation_p.R189L|BIRC7_ENST00000342412.6_Missense_Mutation_p.R276L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	294					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of natural killer cell apoptotic process (GO:0070247)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					AGCCGCGTGCGCACCTTCCTG	0.721																																																	0													29	26	27					20																	61870941		2193	4291	6484	SO:0001583	missense	0			AF301009	CCDS13512.1, CCDS13513.1	20q13.3	2011-01-25	2011-01-25		ENSG00000101197	ENSG00000101197		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	13702	protein-coding gene	gene with protein product	"melanoma inhibitor of apoptosis protein", "kidney inhibitor of apoptosis protein", "livin inhibitor-of-apoptosis", "livin"	605737	"baculoviral IAP repeat-containing 7"			11024045, 11162435	Standard	NM_139317		Approved	mliap, ML-IAP, KIAP, RNF50	uc002yej.3	Q96CA5	OTTHUMG00000032957	ENST00000217169.3:c.881G>T	20.37:g.61870941G>T	ENSP00000217169:p.Arg294Leu		Q9BQV0|Q9H2A8|Q9HAP7	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.R294L	ENST00000217169.3	37	c.881	CCDS13513.1	20	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204664	0.58234	.	.	ENSG00000101197	ENST00000342412;ENST00000217169;ENST00000395306	T;T;T	0.56776	0.64;0.44;1.66	4.89	3.94	0.45596	.	0.000000	0.40728	N	0.001031	T	0.66557	0.2801	M	0.64567	1.98	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.931;0.982	T	0.68387	-0.5422	10	0.87932	D	0	.	10.498	0.44789	0.162:0.0:0.838:0.0	.	294;276	Q96CA5;Q96CA5-2	BIRC7_HUMAN;.	L	276;294;189	ENSP00000345213:R276L;ENSP00000217169:R294L;ENSP00000378717:R189L	ENSP00000217169:R294L	R	+	2	0	BIRC7	61341386	1.000000	0.71417	0.998000	0.56505	0.136000	0.21042	4.069000	0.57541	1.038000	0.40049	0.467000	0.42956	CGC	BIRC7	-	NULL	ENSG00000101197		0.721	BIRC7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC7	HGNC	protein_coding	OTTHUMT00000080114.2		0	29	0	G	NM_139317		61870941	1			no_errors	ENST00000217169	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	61870941	G	T	61870941	3	4	57	1	0	0	0	0	1	0	0	0	1441	1087	38	2	903	2	BIRC7	20	61870941	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	6770066	61870941	1154579	369	14367											
RBM11	54033	genome.wustl.edu	37	chr21	15593474	15593474	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagagctgtgttaagataAattcacacaactacaggtaa	16	11	8	6	0	1	2	1	1	0	2	1	3	1	2	0	1	3	3	0	1	6	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:15593474A>C	ENST00000400577.3	+	3	325	c.316A>C	c.(316-318)Aat>Cat	p.N106H	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	106					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TGTTAAGATAAATTCACACAA	0.318																																																	0													50	44	46					21																	15593474		1560	3569	5129	SO:0001583	missense	0			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"RNA binding motif (RRM) containing"	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.316A>C	21.37:g.15593474A>C	ENSP00000383421:p.Asn106His		Q6YNC2|Q8NBA1|Q8NFF6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N106H	ENST00000400577.3	37	c.316	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432531	0.62844	.	.	ENSG00000185272	ENST00000400577	T	0.10192	2.9	5.35	5.35	0.76521	.	0.138737	0.48286	D	0.000182	T	0.20577	0.0495	M	0.62723	1.935	0.29309	N	0.86813	D	0.63880	0.993	P	0.58928	0.848	T	0.05801	-1.0863	10	0.13853	T	0.58	-24.8281	9.2971	0.37822	0.8395:0.0:0.0:0.1605	.	106	P57052	RBM11_HUMAN	H	106	ENSP00000383421:N106H	ENSP00000383421:N106H	N	+	1	0	RBM11	14515345	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.683000	0.37638	2.326000	0.78906	0.533000	0.62120	AAT	RBM11	-	NULL	ENSG00000185272		0.318	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	-	0	12	0	A	NM_144770		15593474	1	tier1	-	no_errors	ENST00000400577	ensembl	human	known	74_37	missense	71.43	2	5	SNP	1.000	C	C	15593474	A	C	15593474	3	2	57	1	0	0	0	0	1	0	0	0	13157	14	1	4	326	4	RBM11	21	15593474	Missense_Mutation	SNP	A	TCGA-L5-A4OH-01A-11D-A27G-09		15593474	32536421	370	14368											
NCAM2	4685	genome.wustl.edu	37	chr21	22881293	22881293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaatgtgggttgctgatGtgcatcactaggagaatgtg	9	11	15	6	1	1	2	1	1	0	1	1	3	1	2	0	3	2	4	0	3	3	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:22881293G>T	ENST00000400546.1	+	16	2448	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	NCAM2_ENST00000284894.7_Missense_Mutation_p.M591I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	733					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGTTGCTGATGTGCATCACTA	0.473																																																	0													132	123	126					21																	22881293		1976	4173	6149	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2199G>T	21.37:g.22881293G>T	ENSP00000383392:p.Met733Ile		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.M733I	ENST00000400546.1	37	c.2199	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778606	0.70107	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.60424	0.19;0.27	4.98	4.98	0.66077	.	0.103335	0.85682	D	0.000000	T	0.56171	0.1967	M	0.69823	2.125	0.80722	D	1	P;P	0.38922	0.651;0.501	B;B	0.30401	0.115;0.081	T	0.65911	-0.6053	10	0.72032	D	0.01	-29.2367	17.699	0.88289	0.0:0.0:1.0:0.0	.	591;733	B7Z5K2;O15394	.;NCAM2_HUMAN	I	733;591	ENSP00000383392:M733I;ENSP00000284894:M591I	ENSP00000284894:M591I	M	+	3	0	NCAM2	21803164	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.327000	0.96396	2.689000	0.91719	0.643000	0.83706	ATG	NCAM2	-	NULL	ENSG00000154654		0.473	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1		0	53	0	G	NM_004540		22881293	1			no_errors	ENST00000400546	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T	T	22881293	G	T	22881293	3	4	57	1	0	0	0	0	1	0	0	0	10242	1377	48	3	2261	3	NCAM2	21	22881293	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	7287819	22881293	25248602	371	14369											
ADAMTS1	9510	genome.wustl.edu	37	chr21	28212680	28212680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgccatccgcccacGggaagtgtttggtttgacac	7	10	13	11	2	0	1	0	1	0	0	1	2	1	2	3	3	2	3	3	3	1	2	rs370561058		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:28212680G>A	ENST00000284984.3	-	5	2034	c.1580C>T	c.(1579-1581)cCg>cTg	p.P527L		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	527	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATCCGCCCACGGGAAGTGTTT	0.527																																																	0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	84	73	77		1580	5.1	1	21		77	0,8600		0,0,4300	no	missense	ADAMTS1	NM_006988.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	527/968	28212680	1,13005	2203	4300	6503	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1580C>T	21.37:g.28212680G>A	ENSP00000284984:p.Pro527Leu		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.P527L	ENST00000284984.3	37	c.1580	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	33	5.219142	0.95104	2.27E-4	0.0	ENSG00000154734	ENST00000284984	T	0.69040	-0.37	5.12	5.12	0.69794	ADAM, cysteine-rich (1);	.	.	.	.	D	0.86112	0.5855	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88712	0.3223	9	0.87932	D	0	.	19.1084	0.93307	0.0:0.0:1.0:0.0	.	527	Q9UHI8	ATS1_HUMAN	L	527	ENSP00000284984:P527L	ENSP00000284984:P527L	P	-	2	0	ADAMTS1	27134551	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	9.208000	0.95075	2.820000	0.97059	0.650000	0.86243	CCG	ADAMTS1	-	smart_ADAM_Cys-rich	ENSG00000154734		0.527	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2	-	0	71	0	G			28212680	-1	tier1	-	no_errors	ENST00000284984	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	A	A	28212680	G	A	28212680	3	1	57	1	0	0	0	0	1	0	0	0	255	1116	39	1	1343	1	ADAMTS1	21	28212680	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5331387	28212680	19917215	372	14370											
GRIK1	2897	genome.wustl.edu	37	chr21	31066310	31066310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttcggtttctgttaatgCtggtgactgcaaacttgaaa	9	14	12	6	1	1	2	0	2	1	0	2	2	1	2	0	3	3	5	0	3	3	4			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:31066310C>T	ENST00000399907.1	-	2	602	c.191G>A	c.(190-192)aGc>aAc	p.S64N	GRIK1_ENST00000535441.1_Missense_Mutation_p.S64N|GRIK1_ENST00000327783.4_Missense_Mutation_p.S64N|GRIK1_ENST00000399913.1_Missense_Mutation_p.S64N|GRIK1_ENST00000399909.1_Missense_Mutation_p.S64N|GRIK1_ENST00000399914.1_Missense_Mutation_p.S64N|GRIK1_ENST00000309434.7_Missense_Mutation_p.S64N|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.S64N|GRIK1_ENST00000389125.3_Missense_Mutation_p.S64N	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	64					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCTGTTAATGCTGGTGACTGC	0.408																																																	0													164	151	155					21																	31066310		2203	4300	6503	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.191G>A	21.37:g.31066310C>T	ENSP00000382791:p.Ser64Asn		Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S64N	ENST00000399907.1	37	c.191	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	8.726	0.915456	0.17907	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.13	3.13	0.36017	Extracellular ligand-binding receptor (1);	0.120199	0.64402	N	0.000001	T	0.53546	0.1803	N	0.01705	-0.755	0.32431	N	0.548005	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.46162	-0.9211	10	0.22109	T	0.4	.	2.277	0.04104	0.0:0.3349:0.2987:0.3664	.	64;64;64;64	E9PD61;B7Z3V7;P39086;P39086-2	.;.;GRIK1_HUMAN;.	N	64	ENSP00000327687:S64N;ENSP00000373777:S64N;ENSP00000382797:S64N;ENSP00000382798:S64N;ENSP00000446326:S64N;ENSP00000373776:S64N;ENSP00000382791:S64N;ENSP00000382793:S64N;ENSP00000311646:S64N	ENSP00000311646:S64N	S	-	2	0	GRIK1	29988181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.095000	0.50235	0.653000	0.30826	0.655000	0.94253	AGC	GRIK1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000171189		0.408	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	-	0	48	0	C			31066310	-1	tier1	-	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	31066310	C	T	31066310	3	4	57	1	0	0	0	0	1	0	0	0	6800	797	28	3	2789	3	GRIK1	21	31066310	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	2853630	31066310	17063585	373	14371											
TFF2	7032	genome.wustl.edu	37	chr21	43771051	43771051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgctgccaggagctgggCgtctcgccgtcccatgtcta	5	8	14	14	4	2	0	0	0	2	0	4	2	3	1	3	2	3	2	3	2	1	1	rs142559683		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr21:43771051C>T	ENST00000291526.4	-	1	186	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	TFF2_ENST00000475297.1_5'UTR	NM_005423.4	NP_005414.1	Q03403	TFF2_HUMAN	trefoil factor 2	6				MGRRDAQLLAALLVLGLCA -> RHGTARRPAPGSAPRPGA MC (in Ref. 1). {ECO:0000305}.	calcium-mediated signaling (GO:0019722)|chemokine-mediated signaling pathway (GO:0070098)|digestion (GO:0007586)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of inflammatory response (GO:0050728)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.A6T(1)		large_intestine(1)|pancreas(1)|urinary_tract(1)	3						AGGAGCTGGGCGTCTCGCCGT	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA	0,4406		0,0,2203	48	48	48		16	-2.9	0	21	dbSNP_134	48	2,8598	2.2+/-6.3	0,2,4298	no	missense	TFF2	NM_005423.4	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	6/130	43771051	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS13684.1	21q22.3	2008-07-28	2008-07-28		ENSG00000160181	ENSG00000160181			11756	protein-coding gene	gene with protein product		182590	"spasmolytic protein 1"	SML1		1505966, 9043862	Standard	NM_005423		Approved		uc002zaw.3	Q03403	OTTHUMG00000086797	ENST00000291526.4:c.16G>A	21.37:g.43771051C>T	ENSP00000291526:p.Ala6Thr		Q15854	Missense_Mutation	SNP	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata	p.A6T	ENST00000291526.4	37	c.16	CCDS13684.1	21	.	.	.	.	.	.	.	.	.	.	C	5.437	0.265727	0.10294	0.0	2.33E-4	ENSG00000160181	ENST00000291526	T	0.31510	1.49	4.3	-2.87	0.05700	.	1.323920	0.05257	N	0.515138	T	0.17916	0.0430	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20438	-1.0275	9	.	.	.	-4.4448	2.5756	0.04806	0.1374:0.225:0.4426:0.195	.	6	Q03403	TFF2_HUMAN	T	6	ENSP00000291526:A6T	.	A	-	1	0	TFF2	42644120	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-2.342000	0.01099	-0.411000	0.07530	0.462000	0.41574	GCC	TFF2	-	NULL	ENSG00000160181		0.562	TFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFF2	HGNC	protein_coding	OTTHUMT00000195355.1		0	79	0	C	NM_005423		43771051	-1			no_errors	ENST00000291526	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.000	T	T	43771051	C	T	43771051	3	4	57	1	0	0	0	0	1	0	0	0	15851	768	27	1	389	1	TFF2	21	43771051	Missense_Mutation	SNP	C	TCGA-L5-A4OH-01A-11D-A27G-09	12704741	43771051	4358844	374	14372											
CECR1	51816	genome.wustl.edu	37	chr22	17688043	17688043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacatttttctgatggacGgggagttgggtgagcaaatc	10	11	15	5	1	1	2	0	2	1	0	2	5	1	5	0	5	2	2	0	5	2	3	rs200153182		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:17688043G>T	ENST00000399839.1	-	3	730	c.460C>A	c.(460-462)Cgt>Agt	p.R154S	CECR1_ENST00000449907.2_Missense_Mutation_p.R112S|CECR1_ENST00000262607.3_Missense_Mutation_p.R154S|CECR1_ENST00000399837.2_Missense_Mutation_p.R154S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	154	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TCTGATGGACGGGGAGTTGGG	0.502																																																	0													139	133	135					22																	17688043		2203	4300	6503	SO:0001583	missense	0			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.460C>A	22.37:g.17688043G>T	ENSP00000382733:p.Arg154Ser		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.R154S	ENST00000399839.1	37	c.460	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	G	1.175	-0.639819	0.03557	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59	4.18	4.18	0.49190	.	1.230360	0.05504	N	0.559019	D	0.88676	0.6501	N	0.22421	0.69	0.09310	N	1	B	0.20988	0.05	B	0.11329	0.006	T	0.76375	-0.2982	10	0.09084	T	0.74	.	8.388	0.32512	0.0:0.1684:0.6583:0.1733	.	154	Q9NZK5	CECR1_HUMAN	S	154;154;112;154	ENSP00000382733:R154S;ENSP00000262607:R154S;ENSP00000406443:R112S;ENSP00000382731:R154S	ENSP00000262607:R154S	R	-	1	0	CECR1	16068043	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.004000	0.12878	1.861000	0.53984	0.555000	0.69702	CGT	CECR1	-	tigrfam_Ad_deam-like	ENSG00000093072		0.502	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	-	0	136	0	G			17688043	-1	tier1	-	no_errors	ENST00000262607	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	T	T	17688043	G	T	17688043	3	4	57	1	0	0	0	0	1	0	0	0	3212	1116	39	2	1141	2	CECR1	22	17688043	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		17688043	33616523	375	14373											
CYTH4	27128	genome.wustl.edu	37	chr22	37699363	37699363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacaatcccaacgtccggGacaggccgccttttgagcgc	8	7	10	16	4	0	1	0	1	0	0	3	2	3	2	5	2	2	0	5	2	2	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:37699363G>T	ENST00000248901.6	+	8	803	c.616G>T	c.(616-618)Gac>Tac	p.D206Y		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	206	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						CAACGTCCGGGACAGGCCGCC	0.612																																																	0													83	70	75					22																	37699363		2203	4300	6503	SO:0001583	missense	0			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"Pleckstrin homology (PH) domain containing"	9505	protein-coding gene	gene with protein product		606514	"pleckstrin homology, Sec7 and coiled/coil domains 4", "pleckstrin homology, Sec7 and coiled-coil domains 4"	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.616G>T	22.37:g.37699363G>T	ENSP00000248901:p.Asp206Tyr		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.D206Y	ENST00000248901.6	37	c.616	CCDS13946.1	22	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689402	0.68271	.	.	ENSG00000100055	ENST00000248901;ENST00000422721	T	0.55413	0.52	4.54	4.54	0.55810	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.049005	0.85682	D	0.000000	T	0.80210	0.4581	H	0.95504	3.68	0.80722	D	1	D;D	0.76494	0.983;0.999	P;D	0.70716	0.901;0.97	D	0.87061	0.2153	10	0.87932	D	0	.	16.4425	0.83906	0.0:0.0:1.0:0.0	.	206;219	Q9UIA0;Q9H7Q0	CYH4_HUMAN;.	Y	206;219	ENSP00000248901:D206Y	ENSP00000248901:D206Y	D	+	1	0	CYTH4	36029309	1.000000	0.71417	0.994000	0.49952	0.297000	0.27493	9.813000	0.99286	2.228000	0.72767	0.561000	0.74099	GAC	CYTH4	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000100055		0.612	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH4	HGNC	protein_coding	OTTHUMT00000318917.1	-	0	127	0	G			37699363	1	tier1	-	no_errors	ENST00000248901	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	37699363	G	T	37699363	3	4	57	1	0	0	0	0	1	0	0	0	4215	1174	41	3	646	3	CYTH4	22	37699363	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	20011320	37699363	13605203	376	14374											
EP300	2033	genome.wustl.edu	37	chr22	41553298	41553298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttatgttcaataatgcctgGttatataaccggaaaacatc	14	13	6	8	1	1	0	1	0	0	0	2	1	1	1	2	2	3	2	2	2	8	6			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:41553298G>T	ENST00000263253.7	+	18	4606	c.3387G>T	c.(3385-3387)tgG>tgT	p.W1129C		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1129	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATAATGCCTGGTTATATAACC	0.423			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													113	107	109					22																	41553298		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3387G>T	22.37:g.41553298G>T	ENSP00000263253:p.Trp1129Cys		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.W1129C	ENST00000263253.7	37	c.3387	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872185	0.72180	.	.	ENSG00000100393	ENST00000263253	T	0.28895	1.59	5.7	5.7	0.88788	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.46145	D	0.000307	T	0.46541	0.1398	N	0.26042	0.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46414	-0.9193	10	0.87932	D	0	-3.7416	19.8463	0.96708	0.0:0.0:1.0:0.0	.	1129	Q09472	EP300_HUMAN	C	1129	ENSP00000263253:W1129C	ENSP00000263253:W1129C	W	+	3	0	EP300	39883244	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	TGG	EP300	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000100393		0.423	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	42	0	G	NM_001429		41553298	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	41553298	G	T	41553298	3	4	57	1	0	0	0	0	1	0	0	0	5164	1270	44	3	3457	3	EP300	22	41553298	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	3853935	41553298	9751268	377	14375											
L3MBTL2	83746	genome.wustl.edu	37	chr22	41605730	41605730	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagaaccaatggaggaaGaggaagatgacgacttggag	15	6	14	6	1	1	4	1	1	0	3	1	9	1	8	1	4	1	0	1	4	4	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:41605730G>T	ENST00000216237.5	+	2	213	c.55G>T	c.(55-57)Gag>Tag	p.E19*	RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	19	Poly-Glu.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATGGAGGAAGAGGAAGATGA	0.493																																																	0													178	181	180					22																	41605730		2203	4300	6503	SO:0001587	stop_gained	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.55G>T	22.37:g.41605730G>T	ENSP00000216237:p.Glu19*		Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Nonsense_Mutation	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.E19*	ENST00000216237.5	37	c.55	CCDS14011.1	22	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883852	0.91814	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	.	.	.	5.37	5.37	0.77165	.	0.385411	0.26623	N	0.023357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	19.1152	0.93336	0.0:0.0:1.0:0.0	.	.	.	.	X	19;11	.	ENSP00000216237:E19X	E	+	1	0	L3MBTL2	39935676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.802000	0.75175	2.528000	0.85240	0.655000	0.94253	GAG	L3MBTL2	-	NULL	ENSG00000100395		0.493	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1	-	0	109	0	G	NM_031488		41605730	1	tier1	-	no_errors	ENST00000216237	ensembl	human	known	74_37	nonsense	6.76	69	5	SNP	1.000	T	T	41605730	G	T	41605730	4	4	57	1	0	0	0	0	0	1	0	0	8620	943	33	3	61	3	L3MBTL2	22	41605730	Nonsense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	52432	41605730	9698836	378	14376											
TTLL12	23170	genome.wustl.edu	37	chr22	43572342	43572342	+	Frame_Shift_Del	DEL	G	G	-																															gcacttgaagatgtggccgtGggggtgcaccacggggttga																								rs370892309		TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chr22:43572342delG	ENST00000216129.6	-	6	964	c.901delC	c.(901-903)cacfs	p.H301fs	TTLL12_ENST00000484118.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	301	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ATGTGGCCGTGGGGGTGCACC	0.587																																																	0													46	43	44					22																	43572342		2201	4298	6499	SO:0001589	frameshift_variant	0			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"Tubulin tyrosine ligase-like family"	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.901delC	22.37:g.43572342delG	ENSP00000216129:p.His301fs		Q20WK5|Q9UGU3	Frame_Shift_Del	DEL	pfam_TTL/TTLL_fam	p.H301fs	ENST00000216129.6	37	c.901	CCDS14047.1	22																																																																																			TTLL12	-	NULL	ENSG00000100304		0.587	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1		0	47	0	G	NM_015140		43572342	-1	tier1		no_errors	ENST00000216129	ensembl	human	known	74_37	frame_shift_del	7.41	25	2	DEL	0.000	-	-	43572342	G	-	43572342	7	5	57	1	0	1	0	1	0	0	0	0	16774	1348	47	0	1069	0	TTLL12	22	43572342	Frame_Shift_Del	DEL	G	TCGA-L5-A4OH-01A-11D-A27G-09	1966612	43572342	7732224	379	14377											
OFD1	8481	genome.wustl.edu	37	chrX	13778545	13778545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagttaccatcggagaGtcattaaaaactctgccaaa	16	9	7	9	1	3	2	2	0	1	2	4	3	3	2	2	1	3	1	2	1	6	2			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:13778545G>T	ENST00000340096.6	+	16	2293	c.1966G>T	c.(1966-1968)Gtc>Ttc	p.V656F	OFD1_ENST00000380567.1_Missense_Mutation_p.V516F|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.V616F	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	656	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCATCGGAGAGTCATTAAAAA	0.473																																																	0													68	69	69					X																	13778545		2203	4300	6503	SO:0001583	missense	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"retinitis pigmentosa 23 (X-linked recessive)"	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1966G>T	X.37:g.13778545G>T	ENSP00000344314:p.Val656Phe		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.V656F	ENST00000340096.6	37	c.1966	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	22.9	4.350512	0.82132	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.96651	-4.08;-4.06;-1.94	5.67	-2.99	0.05497	.	0.711847	0.13246	N	0.402456	D	0.94218	0.8144	M	0.62723	1.935	0.09310	N	0.999997	P;P;P;P;P	0.49090	0.919;0.919;0.919;0.919;0.919	P;P;P;P;P	0.49421	0.61;0.61;0.525;0.525;0.61	D	0.88060	0.2793	10	0.35671	T	0.21	0.5952	4.227	0.10585	0.499:0.098:0.301:0.1019	.	656;616;324;516;656	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	F	616;656;516	ENSP00000369923:V616F;ENSP00000344314:V656F;ENSP00000369941:V516F	ENSP00000344314:V656F	V	+	1	0	OFD1	13688466	0.680000	0.27605	0.000000	0.03702	0.709000	0.40893	0.439000	0.21575	-1.406000	0.02045	0.529000	0.55759	GTC	OFD1	-	NULL	ENSG00000046651		0.473	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1		0	30	0	G	NM_003611		13778545	1			no_errors	ENST00000340096	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.129	T	T	13778545	G	T	13778545	3	4	57	1	0	0	0	0	1	0	0	0	10877	1029	36	3	2028	3	OFD1	23	13778545	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09		13778545	141492015	380	14378											
GPR64	10149	genome.wustl.edu	37	chrX	19027872	19027872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaaaagttcagctgtaGgccaatgtcatccactactt	11	13	8	9	0	2	1	2	1	0	0	3	1	3	1	2	1	2	4	2	1	5	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:19027872G>T	ENST00000379869.3	-	18	1457	c.1294C>A	c.(1294-1296)Cta>Ata	p.L432I	GPR64_ENST00000357991.3_Missense_Mutation_p.L429I|GPR64_ENST00000360279.4_Missense_Mutation_p.L410I|GPR64_ENST00000379873.2_Missense_Mutation_p.L432I|GPR64_ENST00000354791.3_Missense_Mutation_p.L416I|GPR64_ENST00000357544.3_Missense_Mutation_p.L402I|GPR64_ENST00000379876.1_Missense_Mutation_p.L408I|GPR64_ENST00000356606.4_Missense_Mutation_p.L418I|GPR64_ENST00000379878.3_Missense_Mutation_p.L416I|GPR64_ENST00000340581.3_Missense_Mutation_p.L402I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	432					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTCAGCTGTAGGCCAATGTCA	0.398																																																	0													130	110	117					X																	19027872		2203	4300	6503	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"-", "GPCR / Class B : Orphans"	4516	protein-coding gene	gene with protein product	"epididymal protein 6"	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1294C>A	X.37:g.19027872G>T	ENSP00000369198:p.Leu432Ile		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L432I	ENST00000379869.3	37	c.1294	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693200	0.48202	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.39997	1.28;1.39;1.39;1.4;1.4;1.42;1.4;1.43;1.42;1.05	6.17	5.02	0.67125	.	0.152620	0.30742	N	0.008962	T	0.57710	0.2072	M	0.74258	2.255	0.38176	D	0.939474	D;P;D;P;P;D;D;D;D;B;D	0.69078	0.982;0.911;0.997;0.562;0.562;0.997;0.997;0.997;0.997;0.427;0.995	P;P;D;P;P;D;D;D;D;B;D	0.69142	0.583;0.821;0.962;0.639;0.639;0.962;0.962;0.962;0.962;0.436;0.917	T	0.59825	-0.7381	10	0.22109	T	0.4	.	8.2848	0.31922	0.8452:0.0:0.1548:0.0	.	402;394;402;408;416;432;410;418;429;432;416	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	432;416;416;408;402;432;410;429;418;402	ENSP00000369202:L432I;ENSP00000369207:L416I;ENSP00000346845:L416I;ENSP00000369205:L408I;ENSP00000350152:L402I;ENSP00000369198:L432I;ENSP00000353421:L410I;ENSP00000350680:L429I;ENSP00000349015:L418I;ENSP00000344972:L402I	ENSP00000344972:L402I	L	-	1	2	GPR64	18937793	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.110000	0.31147	0.934000	0.37316	-0.340000	0.08031	CTA	GPR64	-	NULL	ENSG00000173698		0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	-	0	53	0	G			19027872	-1	tier1	-	no_errors	ENST00000379869	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	19027872	G	T	19027872	3	4	57	1	0	0	0	0	1	0	0	0	6731	991	35	3	1807	3	GPR64	23	19027872	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	5249327	19027872	136242688	381	14379											
CXorf36	79742	genome.wustl.edu	37	chrX	45060031	45060031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagggccagccagccaGggcggagggcggcagcctca	8	1	18	14	2	1	0	1	0	0	0	1	1	1	1	4	5	4	3	4	5	0	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:45060031G>T	ENST00000398000.2	-	1	115	c.41C>A	c.(40-42)cCt>cAt	p.P14H	RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.P14H	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	14						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAGCCAGCCAGGGCGGAGGGC	0.647																																																	0													16	16	16					X																	45060031		2203	4291	6494	SO:0001583	missense	0			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.41C>A	X.37:g.45060031G>T	ENSP00000381086:p.Pro14His		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	NULL	p.P14H	ENST00000398000.2	37	c.41	CCDS48096.1	X	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.051330	0.00394	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.30714	1.55;1.52	5.33	-10.7	0.00240	.	1.539810	0.03640	N	0.239316	T	0.22513	0.0543	L	0.40543	1.245	0.09310	N	1	B;P	0.48407	0.0;0.91	B;P	0.44921	0.002;0.464	T	0.37430	-0.9706	10	0.30078	T	0.28	.	7.036	0.24993	0.5104:0.0:0.1908:0.2988	.	14;14	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	H	14	ENSP00000381086:P14H;ENSP00000367168:P14H	ENSP00000367168:P14H	P	-	2	0	CXorf36	44944975	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.705000	0.05052	-3.272000	0.00199	-1.569000	0.00873	CCT	CXorf36	-	NULL	ENSG00000147113		0.647	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	-	0	23	0	G	NM_024689		45060031	-1	tier1	-	no_errors	ENST00000398000	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.000	T	T	45060031	G	T	45060031	3	4	57	1	0	0	0	0	1	0	0	0	4115	1000	35	3	1335	3	CXorf36	23	45060031	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	26032159	45060031	110210529	382	14380											
BRWD3	254065	genome.wustl.edu	37	chrX	79936909	79936909	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggctatttccacttcGgctatatccaccgaagctcg	8	12	8	13	3	1	0	1	0	0	0	5	1	3	0	3	2	1	3	3	2	4	5			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:79936909G>T	ENST00000373275.4	-	40	4801	c.4585C>A	c.(4585-4587)Cga>Aga	p.R1529R	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1529					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTTCCACTTCGGCTATATCCA	0.403																																																	0													134	127	129					X																	79936909		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4585C>A	X.37:g.79936909G>T			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.R1529	ENST00000373275.4	37	c.4585	CCDS14447.1	X																																																																																			BRWD3	-	NULL	ENSG00000165288		0.403	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0	53	0	G	NM_153252		79936909	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.271	T	T	79936909	G	T	79936909	2	4	57	1	0	0	0	0	0	0	0	1	1530	1124	39	2		2	BRWD3	23	79936909	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	34876878	79936909	75333651	383	14381											
HMGN5	79366	genome.wustl.edu	37	chrX	80371790	80371790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggtttcagcaactgcttgGgcacttgtatctatgttttc	6	18	9	8	0	2	0	1	0	1	0	3	0	2	0	0	2	3	6	0	2	3	8			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:80371790G>T	ENST00000358130.2	-	6	508	c.180C>A	c.(178-180)gcC>gcA	p.A60A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	60					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A60A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CAACTGCTTGGGCACTTGTAT	0.328																																																	2	Substitution - coding silent(2)	endometrium(2)											148	113	125					X																	80371790		2203	4297	6500	SO:0001819	synonymous_variant	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.180C>A	X.37:g.80371790G>T			Q5JSL1	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A60	ENST00000358130.2	37	c.180	CCDS14448.1	X																																																																																			HMGN5	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000198157		0.328	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	-	0	23	0	G	NM_030763		80371790	-1	tier1	-	no_errors	ENST00000358130	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.020	T	T	80371790	G	T	80371790	2	4	57	1	0	0	0	0	0	0	0	1	7265	1219	43	3		3	HMGN5	23	80371790	Silent	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	434881	80371790	74898770	384	14382											
PDZD4	57595	genome.wustl.edu	37	chrX	153069014	153069014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcaggcactccagccGgctctgcatcatgaactcgc	7	7	9	18	3	2	1	1	1	1	0	5	1	4	1	3	2	3	4	3	2	1	0			TCGA-L5-A4OH-01A-11D-A27G-09	TCGA-L5-A4OH-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a2f43d43-ede2-4e61-92a5-65c708c460f0	4cef956a-252e-480d-a8ee-a8c56dda0e61	g.chrX:153069014G>A	ENST00000164640.4	-	8	2295	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PDZD4_ENST00000393758.2_Missense_Mutation_p.R627W|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.R593W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	702						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTCCAGCCGGCTCTGCATC	0.612																																																	0													102	85	91					X																	153069014		2202	4300	6502	SO:0001583	missense	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.2104C>T	X.37:g.153069014G>A	ENSP00000164640:p.Arg702Trp		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R702W	ENST00000164640.4	37	c.2104	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609757	0.66558	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.77229	-1.08;-1.08;-1.08	5.67	2.8	0.32819	.	0.000000	0.85682	D	0.000000	D	0.86916	0.6048	M	0.83852	2.665	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.996;0.998;1.0;0.985	D	0.86563	0.1842	10	0.87932	D	0	-31.6085	10.1441	0.42753	0.0:0.129:0.5979:0.2731	.	593;708;702;627;606	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	W	702;627;606;593	ENSP00000164640:R702W;ENSP00000377355:R627W;ENSP00000442033:R593W	ENSP00000164640:R702W	R	-	1	2	PDZD4	152722208	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.602000	0.46257	0.545000	0.28902	-0.343000	0.07986	CGG	PDZD4	-	NULL	ENSG00000067840		0.612	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	-	0	17	0	G	NM_032512		153069014	-1	tier1	-	no_errors	ENST00000164640	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A	A	153069014	G	A	153069014	3	1	57	1	0	0	0	0	1	0	0	0	11742	1115	39	1	209	1	PDZD4	23	153069014	Missense_Mutation	SNP	G	TCGA-L5-A4OH-01A-11D-A27G-09	72697224	153069014	2201546	385	14383											
KLHL17	339451	genome.wustl.edu	37	chr1	900526	900526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgctcaatttcccGccgccatcctccccgacgct	5	9	8	19	4	1	0	1	0	0	0	4	2	4	1	6	1	2	3	6	1	1	1	rs146302352	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:900526G>A	ENST00000338591.3	+	12	1991	c.1884G>A	c.(1882-1884)ccG>ccA	p.P628P	PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	628	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAATTTCCCGCCGCCATCCT	0.647																																																	0								G		3,4397	6.2+/-15.9	0,3,2197	79	61	67		1884	-11.3	0	1	dbSNP_134	67	15,8581	11.2+/-40.8	0,15,4283	no	coding-synonymous	KLHL17	NM_198317.2		0,18,6480	AA,AG,GG		0.1745,0.0682,0.1385		628/643	900526	18,12978	2200	4298	6498	SO:0001819	synonymous_variant	0			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1884G>A	1.37:g.900526G>A			Q5SV94	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P628	ENST00000338591.3	37	c.1884	CCDS30550.1	1																																																																																			KLHL17	-	pirsf_Kelch-like_gigaxonin	ENSG00000187961		0.647	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3	-	0	167	0	G	NM_198317		900526	1	tier1	rs146302352	no_errors	ENST00000338591	ensembl	human	known	74_37	silent	37.19	75	45	SNP	0.000	A	A	900526	G	A	900526	2	1	58	1	0	0	0	0	0	0	0	1	8399	1074	38	1		1	KLHL17	1	900526	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		900526	248350095	1	14384											
VWA1	64856	genome.wustl.edu	37	chr1	1372492	1372492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcggccatacaccgagttcCccttcggccagcacagctcg	7	7	10	17	4	0	0	0	0	0	0	4	1	1	0	5	2	3	3	5	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:1372492C>T	ENST00000476993.1	+	2	337	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	VWA1_ENST00000338660.5_Intron|RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	87	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACCGAGTTCCCCTTCGGCCA	0.687																																																	0													35	28	30					1																	1372492		2195	4290	6485	SO:0001583	missense	0			BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"Fibronectin type III domain containing"	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.259C>T	1.37:g.1372492C>T	ENSP00000417185:p.Pro87Ser		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P87S	ENST00000476993.1	37	c.259	CCDS27.1	1	.	.	.	.	.	.	.	.	.	.	.	6.058	0.379110	0.11466	.	.	ENSG00000179403	ENST00000476993	D	0.82619	-1.63	4.14	1.07	0.20283	von Willebrand factor, type A (3);	0.324738	0.29707	U	0.011407	T	0.64692	0.2621	N	0.25485	0.75	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.48747	-0.9008	10	0.07175	T	0.84	-5.2759	5.9428	0.19201	0.1565:0.6721:0.0:0.1713	.	87	Q6PCB0	VWA1_HUMAN	S	87	ENSP00000417185:P87S	ENSP00000417185:P87S	P	+	1	0	VWA1	1362355	0.996000	0.38824	0.998000	0.56505	0.627000	0.37826	0.476000	0.22180	0.119000	0.18210	-0.232000	0.12228	CCC	VWA1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000179403		0.687	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA1	HGNC	protein_coding	OTTHUMT00000008291.1	-	0	109	0	C	NM_022834		1372492	1	tier1	-	no_errors	ENST00000476993	ensembl	human	known	74_37	missense	33.80	46	24	SNP	1.000	T	T	1372492	C	T	1372492	3	4	58	1	0	0	0	0	1	0	0	0	17287	623	22	3	265	3	VWA1	1	1372492	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	471966	1372492	247878129	2	14385											
GNB1	2782	genome.wustl.edu	37	chr1	1720538	1720538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgttgcagttgaagtcGtcgtacccagcaaggaggag	11	7	14	9	3	0	2	0	1	0	1	2	4	0	4	1	2	3	5	1	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:1720538G>A	ENST00000378609.4	-	10	1201	c.870C>T	c.(868-870)gaC>gaT	p.D290D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	290					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGTTGAAGTCGTCGTACCCAG	0.552											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95	89	91					1																	1720538		2203	4300	6503	SO:0001819	synonymous_variant	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.870C>T	1.37:g.1720538G>A		598	B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D290	ENST00000378609.4	37	c.870	CCDS34.1	1	.	.	.	.	.	.	.	.	.	.	G	7.481	0.648696	0.14516	.	.	ENSG00000078369	ENST00000424622	.	.	.	5.52	-4.97	0.03029	.	.	.	.	.	T	0.63260	0.2496	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64584	-0.6373	4	.	.	.	-1.042	14.8194	0.70059	0.7447:0.0:0.2553:0.0	.	.	.	.	M	148	.	.	T	-	2	0	GNB1	1710398	0.023000	0.18921	0.935000	0.37517	0.971000	0.66376	-0.795000	0.04580	-0.784000	0.04528	-0.126000	0.14955	ACG	GNB1	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000078369		0.552	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1	HGNC	protein_coding	OTTHUMT00000002762.3	-	0	40	0	G	NM_002074		1720538	-1	tier1	-	no_errors	ENST00000378609	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.857	A	A	1720538	G	A	1720538	2	1	58	1	0	0	0	0	0	0	0	1	6541	1136	40	1		1	GNB1	1	1720538	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	348046	1720538	247530083	3	14386											
GABRD	2563	genome.wustl.edu	37	chr1	1961475	1961475	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgctgccggcgtcacGcaggagctggccatctcccg	4	8	12	17	4	3	0	1	0	2	0	5	1	3	1	3	3	3	3	3	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:1961475G>A	ENST00000378585.4	+	9	1196	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	371					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGGCGTCACGCAGGAGCTGG	0.677																																																	0													34	36	36					1																	1961475		2202	4292	6494	SO:0001819	synonymous_variant	0			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4084	protein-coding gene	gene with protein product	"GABA(A) receptor, delta"	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1113G>A	1.37:g.1961475G>A			Q8N4N9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T371	ENST00000378585.4	37	c.1113	CCDS36.1	1																																																																																			GABRD	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAd_rcpt	ENSG00000187730		0.677	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	-	0	57	0	G	NM_000815		1961475	1	tier1	-	no_errors	ENST00000378585	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.732	A	A	1961475	G	A	1961475	2	1	58	1	0	0	0	0	0	0	0	1	6193	1074	38	1		1	GABRD	1	1961475	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	240937	1961475	247289146	4	14387											
PRKCZ	5590	genome.wustl.edu	37	chr1	2116115	2116115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagttcaccagcgagcccGtgcagctgaccccagacgat	10	5	10	16	3	1	2	1	1	0	1	1	4	1	2	4	0	4	3	4	0	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2116115G>A	ENST00000400921.2	+	14	1803	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	PRKCZ_ENST00000400920.1_Missense_Mutation_p.V374M|PRKCZ_ENST00000479263.1_3'UTR|C1orf86_ENST00000400919.3_3'UTR|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000444529.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CAGCGAGCCCGTGCAGCTGAC	0.632																																																	0													50	46	47					1																	2116115		2203	4300	6503	SO:0001583	missense	0			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1120G>A	1.37:g.2116115G>A	ENSP00000383712:p.Val374Met		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.V557M	ENST00000400921.2	37	c.1669	CCDS41229.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982703	0.74474	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.17	4.26	0.50523	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.65140	0.916;0.916;0.916;0.932	D	0.84087	0.0388	10	0.56958	D	0.05	.	12.5142	0.56024	0.0807:0.0:0.9193:0.0	.	453;381;453;557	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	M	557;374;453;374	ENSP00000367830:V557M;ENSP00000383712:V374M;ENSP00000426412:V453M;ENSP00000383711:V374M	ENSP00000367830:V557M	V	+	1	0	PRKCZ	2105975	1.000000	0.71417	0.973000	0.42090	0.896000	0.52359	6.003000	0.70701	1.175000	0.42826	0.491000	0.48974	GTG	PRKCZ	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta	ENSG00000067606		0.632	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	-	0	46	0	G	NM_002744		2116115	1	tier1	-	no_errors	ENST00000378567	ensembl	human	known	74_37	missense	48.08	27	25	SNP	0.996	A	A	2116115	G	A	2116115	3	1	58	1	0	0	0	0	1	0	0	0	12559	1145	40	1	1735	1	PRKCZ	1	2116115	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	154640	2116115	247134506	5	14388											
MORN1	79906	genome.wustl.edu	37	chr1	2318863	2318863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggcgccagaccttccCgcatgccgtgggagacctcc	5	7	13	16	3	0	2	0	0	0	2	2	3	2	2	6	2	1	1	6	2	0	1	rs146451358		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2318863C>T	ENST00000378531.3	-	4	526	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.R118Q	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	118										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CAGACCTTCCCGCATGCCGTG	0.602													C|||	1	0.000199681	0	0	5008	,	,		18738	0		0	False		,,,				2504	0.001																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106	101	103		353	3.7	0.9	1	dbSNP_134	103	0,8600		0,0,4300	no	missense	MORN1	NM_024848.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	118/498	2318863	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.353G>A	1.37:g.2318863C>T	ENSP00000367792:p.Arg118Gln		A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R118Q	ENST00000378531.3	37	c.353	CCDS40.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.024204|2.024204	0.35701|0.35701	2.27E-4|2.27E-4	0.0|0.0	ENSG00000116151|ENSG00000116151	ENST00000449373|ENST00000378531;ENST00000378529;ENST00000378525	.|T;T;T	.|0.59364	.|0.27;0.27;0.27	4.58|4.58	3.66|3.66	0.41972|0.41972	.|.	.|0.089102	.|0.46442	.|D	.|0.000288	T|T	0.61337|0.61337	0.2339|0.2339	L|L	0.60957|0.60957	1.885|1.885	0.26488|0.26488	N|N	0.97499|0.97499	D|D;D;D	0.59767|0.76494	0.986|0.981;0.997;0.999	P|P;P;P	0.46585|0.60286	0.521|0.557;0.727;0.872	T|T	0.51810|0.51810	-0.8658|-0.8658	8|10	0.87932|0.21540	D|T	0|0.41	.|.	6.1502|6.1502	0.20308|0.20308	0.0:0.7861:0.0:0.2139|0.0:0.7861:0.0:0.2139	.|.	69|94;118;118	Q5T088|B4DRE3;Q5T089-2;Q5T089	.|.;.;MORN1_HUMAN	R|Q	69|118;118;94	.|ENSP00000367792:R118Q;ENSP00000367790:R118Q;ENSP00000367786:R94Q	ENSP00000390261:G69R|ENSP00000367786:R94Q	G|R	-|-	1|2	0|0	MORN1|MORN1	2308723|2308723	0.999000|0.999000	0.42202|0.42202	0.870000|0.870000	0.34147|0.34147	0.884000|0.884000	0.51177|0.51177	2.922000|2.922000	0.48860|0.48860	2.073000|2.073000	0.62155|0.62155	0.561000|0.561000	0.74099|0.74099	GGG|CGG	MORN1	-	pfam_MORN,smart_MORN	ENSG00000116151		0.602	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	-	0	55	0	C	NM_024848		2318863	-1	tier1	rs146451358	no_errors	ENST00000378531	ensembl	human	known	74_37	missense	46.67	32	28	SNP	0.829	T	T	2318863	C	T	2318863	3	4	58	1	0	0	0	0	1	0	0	0	9746	652	23	1	1184	1	MORN1	1	2318863	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	202748	2318863	246931758	6	14389											
PANK4	55229	genome.wustl.edu	37	chr1	2450662	2450662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagcctccaaagtacaCgcggtccaggctgtgcagcc	12	5	11	13	2	0	1	0	0	0	1	2	1	2	1	4	2	4	3	4	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2450662C>T	ENST00000378466.3	-	7	967	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Missense_Mutation_p.V280M	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	319					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAAAGTACACGCGGTCCAGG	0.587																																																	0													78	69	72					1																	2450662		2203	4300	6503	SO:0001583	missense	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.955G>A	1.37:g.2450662C>T	ENSP00000367727:p.Val319Met		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.V319M	ENST00000378466.3	37	c.955	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366962	0.82463	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99724	-6.54;-6.54	5.17	5.17	0.71159	.	0.059204	0.64402	D	0.000003	D	0.99638	0.9867	M	0.89715	3.055	0.58432	D	0.999997	D;D	0.69078	0.993;0.997	P;P	0.62184	0.899;0.899	D	0.97852	1.0275	10	0.87932	D	0	-34.2021	11.1307	0.48345	0.0:0.9046:0.0:0.0954	.	280;319	E9PHT6;Q9NVE7	.;PANK4_HUMAN	M	319;280	ENSP00000367727:V319M;ENSP00000421433:V280M	ENSP00000367727:V319M	V	-	1	0	PANK4	2440522	0.999000	0.42202	0.975000	0.42487	0.983000	0.72400	4.238000	0.58688	2.424000	0.82194	0.467000	0.42956	GTG	PANK4	-	pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK	ENSG00000157881		0.587	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	-	0	75	0	C			2450662	-1	tier1	-	no_errors	ENST00000378466	ensembl	human	known	74_37	missense	48.33	31	29	SNP	0.994	T	T	2450662	C	T	2450662	3	4	58	1	0	0	0	0	1	0	0	0	11458	536	19	1	1418	1	PANK4	1	2450662	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	131799	2450662	246799959	7	14390											
TNFRSF14	8764	genome.wustl.edu	37	chr1	2489215	2489215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacgccccagctctgccGtcctgcaaggaggacgagta	8	7	12	14	3	1	0	0	0	1	0	2	3	2	2	4	2	5	4	4	2	3	2	rs150605790	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2489215G>A	ENST00000355716.4	+	2	419	c.120G>A	c.(118-120)ccG>ccA	p.P40P	RP3-395M20.8_ENST00000452793.1_RNA|RP3-395M20.8_ENST00000416860.2_RNA|TNFRSF14_ENST00000442392.2_3'UTR|TNFRSF14_ENST00000409119.1_Silent_p.P40P	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	40					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CAGCTCTGCCGTCCTGCAAGG	0.667			"Mis, N, F"		follicular lymphoma																																			Rec	yes		1	1p36.32	8764	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"		L	0								G		5,4399	9.9+/-24.2	0,5,2197	35	33	34		120	-1.2	0	1	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	TNFRSF14	NM_003820.2		0,5,6497	AA,AG,GG		0.0,0.1135,0.0384		40/284	2489215	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	0			U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"Tumor necrosis factor receptor superfamily", "CD molecules"	11912	protein-coding gene	gene with protein product	"herpesvirus entry mediator"	602746	"tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.120G>A	1.37:g.2489215G>A			B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt	p.P40	ENST00000355716.4	37	c.120	CCDS44046.1	1																																																																																			TNFRSF14	-	NULL	ENSG00000157873		0.667	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF14	HGNC	protein_coding	OTTHUMT00000002088.1	-	0	60	0	G			2489215	1	tier1	rs150605790	no_errors	ENST00000355716	ensembl	human	known	74_37	silent	40.35	34	23	SNP	0.000	A	A	2489215	G	A	2489215	2	1	58	1	0	0	0	0	0	0	0	1	16336	1132	40	1		1	TNFRSF14	1	2489215	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	38553	2489215	246761406	8	14391											
MMEL1	79258	genome.wustl.edu	37	chr1	2530095	2530095	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctccctgggcctcacctGgctgagtaggtgtcgatgat	6	10	12	13	1	1	2	1	2	0	0	3	3	2	2	4	3	0	2	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2530095G>T	ENST00000378412.3	-	12	1337	c.1176C>A	c.(1174-1176)gcC>gcA	p.A392A	MMEL1_ENST00000502556.1_Silent_p.A235A|MMEL1_ENST00000288709.6_Silent_p.A383A			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	392						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCCTCACCTGGCTGAGTAGG	0.557																																																	0													117	108	111					1																	2530095		2203	4300	6503	SO:0001819	synonymous_variant	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"membrane metallo-endopeptidase-like 2"	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1176C>A	1.37:g.2530095G>T			B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A392	ENST00000378412.3	37	c.1176	CCDS30569.2	1																																																																																			MMEL1	-	pfam_Peptidase_M13_N	ENSG00000142606		0.557	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	-	0	62	0	G	NM_033467		2530095	-1	tier1	-	no_errors	ENST00000378412	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.950	T	T	2530095	G	T	2530095	2	4	58	1	0	0	0	0	0	0	0	1	9684	1335	47	3		3	MMEL1	1	2530095	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	40880	2530095	246720526	9	14392											
MEGF6	1953	genome.wustl.edu	37	chr1	3417208	3417208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcacgctgctcgcacCgcgggcccacgtagccagcc	6	4	13	18	5	1	0	1	0	0	0	2	1	1	1	4	2	3	4	4	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:3417208C>T	ENST00000356575.4	-	21	2922	c.2696G>A	c.(2695-2697)cGg>cAg	p.R899Q	MEGF6_ENST00000294599.4_Missense_Mutation_p.R794Q	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	899	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGCTCGCACCGCGGGCCCAC	0.652																																					Ovarian(73;978 3658)												0													10	17	15					1																	3417208		2125	4191	6316	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2696G>A	1.37:g.3417208C>T	ENSP00000348982:p.Arg899Gln		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R899Q	ENST00000356575.4	37	c.2696	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282900	0.10458	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.33438	1.41;1.41	4.98	-4.47	0.03525	EGF-like, laminin (2);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.790169	0.12065	N	0.502767	T	0.23766	0.0575	L	0.43598	1.365	0.09310	N	1	B;B	0.27910	0.193;0.003	B;B	0.28139	0.086;0.008	T	0.07252	-1.0782	10	0.25106	T	0.35	-9.3131	13.9786	0.64287	0.0:0.4345:0.0:0.5655	.	899;794	O75095;O75095-2	MEGF6_HUMAN;.	Q	794;899	ENSP00000294599:R794Q;ENSP00000348982:R899Q	ENSP00000294599:R794Q	R	-	2	0	MEGF6	3407068	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-3.879000	0.00344	-2.023000	0.00937	-1.134000	0.01955	CGG	MEGF6	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin	ENSG00000162591		0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0	150	0	C	NM_001409		3417208	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	35.29	55	30	SNP	0.000	T	T	3417208	C	T	3417208	3	4	58	1	0	0	0	0	1	0	0	0	9500	652	23	1	1997	1	MEGF6	1	3417208	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	887113	3417208	245833413	10	14393											
WDR8	49856	genome.wustl.edu	37	chr1	3548109	3548109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcccgtgcagatggccagCcgcggctgctgcgggtccca	4	6	14	17	4	0	1	0	0	0	1	2	1	2	1	5	3	4	3	5	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:3548109C>T	ENST00000270708.7	-	11	1234	c.1161G>A	c.(1159-1161)cgG>cgA	p.R387R	WRAP73_ENST00000378322.3_Silent_p.R387R	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	387						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGATGGCCAGCCGCGGCTGCT	0.662																																																	0													21	22	22					1																	3548109		2196	4290	6486	SO:0001819	synonymous_variant	0			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"WD repeat domain containing"	12759	protein-coding gene	gene with protein product		606040	"WD repeat domain 8"	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1161G>A	1.37:g.3548109C>T			Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R387	ENST00000270708.7	37	c.1161	CCDS48.1	1																																																																																			WRAP73	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000116213		0.662	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP73	HGNC	protein_coding	OTTHUMT00000001470.1	-	0	43	0	C			3548109	-1	tier1	-	no_errors	ENST00000270708	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.997	T	T	3548109	C	T	3548109	2	4	58	1	0	0	0	0	0	0	0	1	17378	726	26	3		3	WDR8	1	3548109	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	130901	3548109	245702512	11	14394											
TP73	7161	genome.wustl.edu	37	chr1	3599692	3599692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatgaggtggtgggcggaaCggattccagcatggacgtct	9	9	16	7	3	1	1	0	1	1	0	2	4	2	4	1	6	2	1	1	6	2	2	rs148777835		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:3599692C>T	ENST00000378295.4	+	3	289	c.134C>T	c.(133-135)aCg>aTg	p.T45M	TP73_ENST00000346387.4_Missense_Mutation_p.T45M|TP73_ENST00000357733.3_Missense_Mutation_p.T45M|TP73_ENST00000604074.1_Missense_Mutation_p.T45M|TP73_ENST00000354437.4_Missense_Mutation_p.T45M|TP73_ENST00000604479.1_Missense_Mutation_p.T45M|TP73_ENST00000603362.1_Missense_Mutation_p.T45M	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	45	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GTGGGCGGAACGGATTCCAGC	0.587																																																	0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	132	126	128		134,134,134,134,134,134	3.8	0	1	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TP73	NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_005427.3	81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	45/500,45/476,45/404,45/556,45/541,45/637	3599692	1,13005	2203	4300	6503	SO:0001583	missense	0			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.134C>T	1.37:g.3599692C>T	ENSP00000367545:p.Thr45Met		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.T45M	ENST00000378295.4	37	c.134	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608250	0.28623	0.0	1.16E-4	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99405	-5.71;-5.84;-5.59;-5.69	4.74	3.8	0.43715	.	0.281364	0.33854	U	0.004494	D	0.98080	0.9367	N	0.19112	0.55	0.34149	D	0.667275	D;D	0.58620	0.983;0.971	P;B	0.50270	0.636;0.432	D	0.99946	1.1468	10	0.56958	D	0.05	-6.1993	13.2039	0.59785	0.166:0.834:0.0:0.0	.	45;45	O15350-2;O15350	.;P73_HUMAN	M	45	ENSP00000367545:T45M;ENSP00000346423:T45M;ENSP00000350366:T45M;ENSP00000340740:T45M	ENSP00000340740:T45M	T	+	2	0	TP73	3589552	0.062000	0.20869	0.001000	0.08648	0.004000	0.04260	3.827000	0.55745	1.057000	0.40506	0.563000	0.77884	ACG	TP73	-	NULL	ENSG00000078900		0.587	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	-	0	69	0	C	NM_005427		3599692	1	tier1	rs148777835	no_errors	ENST00000378295	ensembl	human	known	74_37	missense	36.62	45	26	SNP	0.011	T	T	3599692	C	T	3599692	3	4	58	1	0	0	0	0	1	0	0	0	16441	536	19	1	140	1	TP73	1	3599692	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	51583	3599692	245650929	12	14395											
NPHP4	261734	genome.wustl.edu	37	chr1	5925296	5925296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagggagtggaggtagaCctgccacgtctgtgtgggtg	6	9	18	8	1	1	1	0	0	1	1	1	3	1	3	2	4	2	2	2	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:5925296C>T	ENST00000378156.4	-	27	3947	c.3682G>A	c.(3682-3684)Gtc>Atc	p.V1228I	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1228					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGTAGACCTGCCACGTC	0.652																																																	0													23	33	30					1																	5925296		2133	4236	6369	SO:0001583	missense	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3682G>A	1.37:g.5925296C>T	ENSP00000367398:p.Val1228Ile		Q8IWC0	Missense_Mutation	SNP	NULL	p.V1228I	ENST00000378156.4	37	c.3682	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439456	0.04636	.	.	ENSG00000131697	ENST00000378156	T	0.75154	-0.91	5.42	2.12	0.27331	.	0.389270	0.21524	N	0.073173	T	0.53142	0.1778	N	0.25825	0.765	0.25667	N	0.985931	B	0.18310	0.027	B	0.16289	0.015	T	0.25152	-1.0140	10	0.22109	T	0.4	.	3.1615	0.06522	0.1974:0.3988:0.0:0.4038	.	1228	O75161	NPHP4_HUMAN	I	1228	ENSP00000367398:V1228I	ENSP00000367398:V1228I	V	-	1	0	NPHP4	5847883	0.561000	0.26578	0.956000	0.39512	0.165000	0.22458	-0.166000	0.09954	0.657000	0.30906	0.655000	0.94253	GTC	NPHP4	-	NULL	ENSG00000131697		0.652	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	-	0	94	0	C			5925296	-1	tier1	-	no_errors	ENST00000378156	ensembl	human	known	74_37	missense	35.05	63	34	SNP	0.987	T	T	5925296	C	T	5925296	3	4	58	1	0	0	0	0	1	0	0	0	10620	507	18	3	614	3	NPHP4	1	5925296	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2325604	5925296	243325325	13	14396											
TNFRSF25	8718	genome.wustl.edu	37	chr1	6522195	6522195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgtcaggaggtgctaGaagggtgtgggcgctgtcca	7	9	17	8	1	1	1	1	0	0	1	2	2	2	2	1	4	2	3	1	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6522195G>T	ENST00000356876.3	-	9	871	c.784C>A	c.(784-786)Cta>Ata	p.L262I	TNFRSF25_ENST00000377782.3_Missense_Mutation_p.L271I|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.L79I|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.L217I|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.L225I	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	262					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.L271V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGTGCTAGAAGGGTGTGG	0.642																																																	1	Substitution - Missense(1)	stomach(1)											135	138	137					1																	6522195		2203	4300	6503	SO:0001583	missense	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.784C>A	1.37:g.6522195G>T	ENSP00000349341:p.Leu262Ile		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.L271I	ENST00000356876.3	37	c.811	CCDS71.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296720	0.60086	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;T;D	0.95001	-3.01;-3.15;-3.58;1.72;-2.1	4.99	4.08	0.47627	.	5.239670	0.01684	U	0.026332	D	0.97040	0.9033	M	0.72894	2.215	0.09310	N	1	D;D;D;P;D;D	0.76494	0.999;0.99;0.99;0.936;0.992;0.998	D;P;P;P;P;D	0.83275	0.979;0.814;0.857;0.523;0.858;0.996	D	0.84226	0.0464	10	0.38643	T	0.18	-6.2022	9.3377	0.38060	0.1:0.0:0.9:0.0	.	271;217;225;262;263;79	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	I	262;271;225;79;217	ENSP00000349341:L262I;ENSP00000367013:L271I;ENSP00000337713:L225I;ENSP00000326762:L79I;ENSP00000314451:L217I	ENSP00000314451:L217I	L	-	1	2	TNFRSF25	6444782	0.008000	0.16893	0.048000	0.18961	0.107000	0.19398	0.618000	0.24373	1.207000	0.43291	0.655000	0.94253	CTA	TNFRSF25	-	prints_TNFR_25	ENSG00000215788		0.642	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1	-	0	56	0	G	NM_148965		6522195	-1	tier1	-	no_errors	ENST00000377782	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.025	T	T	6522195	G	T	6522195	3	4	58	1	0	0	0	0	1	0	0	0	16343	933	33	3	477	3	TNFRSF25	1	6522195	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	596899	6522195	242728426	14	14397											
TAS1R1	80835	genome.wustl.edu	37	chr1	6639284	6639284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgcttgagtgcacagaGaccaactccctgggcttcat	9	10	11	11	0	1	3	1	2	0	1	2	4	2	3	2	1	3	3	2	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6639284G>T	ENST00000333172.6	+	6	2359	c.2166G>T	c.(2164-2166)gaG>gaT	p.E722D	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.E468D|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	722					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGCACAGAGACCAACTCCC	0.562																																																	0													153	125	134					1																	6639284		2203	4300	6503	SO:0001583	missense	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2166G>T	1.37:g.6639284G>T	ENSP00000331867:p.Glu722Asp		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.E722D	ENST00000333172.6	37	c.2166	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	G	2.602	-0.292767	0.05568	.	.	ENSG00000173662	ENST00000333172;ENST00000351136	D;D	0.88354	-2.37;-2.37	5.18	3.32	0.38043	GPCR, family 3, C-terminal (2);	0.462443	0.24458	N	0.038342	D	0.89015	0.6595	M	0.76838	2.35	0.22266	N	0.999241	P;P	0.46859	0.885;0.673	P;B	0.48189	0.57;0.324	T	0.80402	-0.1397	10	0.38643	T	0.18	.	6.4025	0.21646	0.1609:0.1499:0.6892:0.0	.	468;722	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	D	722;468	ENSP00000331867:E722D;ENSP00000312558:E468D	ENSP00000331867:E722D	E	+	3	2	TAS1R1	6561871	0.977000	0.34250	0.064000	0.19789	0.068000	0.16541	0.798000	0.27014	0.580000	0.29522	-0.229000	0.12294	GAG	TAS1R1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000173662		0.562	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	-	0	60	0	G			6639284	1	tier1	-	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.122	T	T	6639284	G	T	6639284	3	4	58	1	0	0	0	0	1	0	0	0	15609	933	33	3	2188	3	TAS1R1	1	6639284	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	117089	6639284	242611337	15	14398											
DNAJC11	55735	genome.wustl.edu	37	chr1	6696231	6696231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcacctgatgcaggaCgccccggaactgatagagca	12	5	10	14	2	1	3	1	2	0	1	1	5	1	5	4	2	3	2	4	2	2	1	rs375527993		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6696231C>T	ENST00000377577.5	-	15	1723	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	DNAJC11_ENST00000377573.5_Missense_Mutation_p.V444I|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.V496I|DNAJC11_ENST00000294401.7_Missense_Mutation_p.V482I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	534						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGCAGGACGCCCCGGAAC	0.572													C|||	1	0.000199681	0	0	5008	,	,		18092	0		0.001	False		,,,				2504	0																0								C	ILE/VAL	0,4406		0,0,2203	91	77	82		1600	5.5	0.9	1		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJC11	NM_018198.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	534/560	6696231	1,13005	2203	4300	6503	SO:0001583	missense	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"Heat shock proteins / DNAJ (HSP40)"	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1600G>A	1.37:g.6696231C>T	ENSP00000366800:p.Val534Ile		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V534I	ENST00000377577.5	37	c.1600	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349660	0.61183	0.0	1.16E-4	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.23348	2.51;2.51;2.23;1.91	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.066550	0.64402	D	0.000012	T	0.27866	0.0686	M	0.62723	1.935	0.58432	D	0.999993	P;B;P	0.44006	0.824;0.405;0.587	B;B;B	0.35413	0.202;0.027;0.08	T	0.07195	-1.0785	10	0.37606	T	0.19	-7.5235	18.4484	0.90695	0.0:1.0:0.0:0.0	.	444;482;534	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	I	534;482;496;444	ENSP00000366800:V534I;ENSP00000294401:V482I;ENSP00000444020:V496I;ENSP00000366796:V444I	ENSP00000294401:V482I	V	-	1	0	DNAJC11	6618818	1.000000	0.71417	0.947000	0.38551	0.987000	0.75469	7.298000	0.78815	2.590000	0.87494	0.655000	0.94253	GTC	DNAJC11	-	pfam_DnaJ-like_C11_C	ENSG00000007923		0.572	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	-	0	42	0	C	NM_018198		6696231	-1	tier1	-	no_errors	ENST00000377577	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T	T	6696231	C	T	6696231	3	4	58	1	0	0	0	0	1	0	0	0	4644	536	19	1	87	1	DNAJC11	1	6696231	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	56947	6696231	242554390	16	14399											
CAMTA1	23261	genome.wustl.edu	37	chr1	7723499	7723499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccacggacaggggggtacGggagccactcggaggtgcag	9	3	19	10	3	0	0	0	0	0	0	1	3	0	3	2	7	4	2	2	7	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:7723499G>A	ENST00000303635.7	+	9	1099	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G298R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGGGGGTACGGGAGCCACTC	0.637			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													104	108	107					1																	7723499		2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.892G>A	1.37:g.7723499G>A	ENSP00000306522:p.Gly298Arg		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G298R	ENST00000303635.7	37	c.892	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.911005	0.52439	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.24350	1.86;1.86	4.89	3.85	0.44370	.	0.105599	0.37530	N	0.002056	T	0.14614	0.0353	N	0.08118	0	0.33274	D	0.561364	D	0.56746	0.977	P	0.47915	0.561	T	0.07102	-1.0790	10	0.46703	T	0.11	-19.4209	5.7233	0.17998	0.3028:0.0:0.6972:0.0	.	298	Q9Y6Y1	CMTA1_HUMAN	R	298	ENSP00000306522:G298R;ENSP00000402561:G298R	ENSP00000306522:G298R	G	+	1	0	CAMTA1	7646086	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.493000	0.60341	2.271000	0.75665	0.549000	0.68633	GGG	CAMTA1	-	NULL	ENSG00000171735		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0	111	0	G	NM_015215		7723499	1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	36.59	52	30	SNP	1.000	A	A	7723499	G	A	7723499	3	1	58	1	0	0	0	0	1	0	0	0	2620	1116	39	1	926	1	CAMTA1	1	7723499	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1027268	7723499	241527122	17	14400											
PER3	8863	genome.wustl.edu	37	chr1	7887253	7887253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagaagctgccggagcCgccagacagcagcagctcga	11	2	15	13	4	0	2	0	0	0	2	1	5	0	4	3	2	6	4	3	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:7887253C>T	ENST00000361923.2	+	17	2415	c.2240C>T	c.(2239-2241)cCg>cTg	p.P747L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P755L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	747	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCGGAGCCGCCAGACAGC	0.642																																																	0													22	28	26					1																	7887253		2184	4264	6448	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2240C>T	1.37:g.7887253C>T	ENSP00000355031:p.Pro747Leu		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.P747L	ENST00000361923.2	37	c.2240	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822427	0.32237	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.11063	2.81;2.82	4.43	1.54	0.23209	.	7739.210000	0.00424	N	0.000077	T	0.09423	0.0232	L	0.40543	1.245	0.19775	N	0.999955	B;B;P;B	0.35208	0.038;0.358;0.49;0.038	B;B;B;B	0.24006	0.005;0.022;0.05;0.005	T	0.27673	-1.0067	10	0.40728	T	0.16	.	5.7815	0.18310	0.0:0.5043:0.3185:0.1771	.	747;755;755;747	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	L	755;747	ENSP00000366755:P755L;ENSP00000355031:P747L	ENSP00000355031:P747L	P	+	2	0	PER3	7809840	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.314000	0.19432	0.158000	0.19367	0.561000	0.74099	CCG	PER3	-	NULL	ENSG00000049246		0.642	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1		0	15	0	C	NM_016831		7887253	1			no_errors	ENST00000361923	ensembl	human	known	74_37	missense	54.55	5	6	SNP	0.001	T	T	7887253	C	T	7887253	3	4	58	1	0	0	0	0	1	0	0	0	11770	652	23	1	2306	1	PER3	1	7887253	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	163754	7887253	241363368	18	14401											
ENO1	2023	genome.wustl.edu	37	chr1	8927293	8927293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggacacccccagaatggcGttcgcaccaaacttagctag	12	6	10	13	2	0	1	0	0	0	1	1	2	0	2	3	2	2	3	3	2	4	3	rs569194886		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:8927293G>A	ENST00000234590.4	-	6	446	c.327C>T	c.(325-327)aaC>aaT	p.N109N		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	109	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGAATGGCGTTCGCACCAA	0.537													g|||	1	0.000199681	0	0	5008	,	,		19758	0		0	False		,,,				2504	0.001				Esophageal Squamous(21;302 608 19946 22210 33560)												0													85	89	88					1																	8927293		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.327C>T	1.37:g.8927293G>A			B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.N109	ENST00000234590.4	37	c.327	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	ENSG00000074800		0.537	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	0	52	0	G	NM_001428		8927293	-1	tier1	-	no_errors	ENST00000234590	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.971	A	A	8927293	G	A	8927293	2	1	58	1	0	0	0	0	0	0	0	1	5137	1136	40	1		1	ENO1	1	8927293	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1040040	8927293	240323328	19	14402											
TMEM201	199953	genome.wustl.edu	37	chr1	9670669	9670669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccggctctctgcgccaccGcaggcccctcatcagccctg	4	7	9	21	3	3	0	2	0	1	0	5	0	4	0	6	2	2	2	6	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:9670669G>A	ENST00000340381.6	+	9	1580	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	TMEM201_ENST00000377376.4_Missense_Mutation_p.R500H	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	524					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCGCCACCGCAGGCCCCTC	0.701																																																	0													20	24	22					1																	9670669		692	1591	2283	SO:0001583	missense	0				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1571G>A	1.37:g.9670669G>A	ENSP00000344503:p.Arg524His		B9EH90|Q5SNT3	Missense_Mutation	SNP	pfam_DUF2448,pfam_Ima1_N	p.R524H	ENST00000340381.6	37	c.1571	CCDS44055.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.276329	0.95459	.	.	ENSG00000188807	ENST00000377376;ENST00000340381	.	.	.	5.19	5.19	0.71726	.	0.127978	0.53938	D	0.000051	T	0.67730	0.2924	L	0.34521	1.04	0.51482	D	0.99992	D	0.89917	1.0	D	0.87578	0.998	T	0.71062	-0.4701	9	0.72032	D	0.01	-42.7995	16.8948	0.86097	0.0:0.0:1.0:0.0	.	500	E9PBR6	.	H	500;524	.	ENSP00000344503:R524H	R	+	2	0	TMEM201	9593256	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.999000	0.93557	2.423000	0.82170	0.561000	0.74099	CGC	TMEM201	-	NULL	ENSG00000188807		0.701	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	HGNC	protein_coding	OTTHUMT00000127672.1	-	0	28	0	G	NM_001010866		9670669	1	tier1	-	no_errors	ENST00000340381	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	A	A	9670669	G	A	9670669	3	1	58	1	0	0	0	0	1	0	0	0	16173	1087	38	1	1624	1	TMEM201	1	9670669	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	743376	9670669	239579952	20	14403											
PEX14	5195	genome.wustl.edu	37	chr1	10596278	10596278	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcaccagattgccacGgcagtgaagtttctacagaa	11	10	8	12	1	3	3	1	1	2	2	4	3	3	3	2	1	2	2	2	1	3	3	rs139797106		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:10596278G>T	ENST00000356607.4	+	3	173	c.93G>T	c.(91-93)acG>acT	p.T31T	PEX14_ENST00000492696.1_3'UTR|PEX14_ENST00000538836.1_Intron	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	31					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGATTGCCACGGCAGTGAAGT	0.463																																																	0													54	55	55					1																	10596278		2203	4300	6503	SO:0001819	synonymous_variant	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.93G>T	1.37:g.10596278G>T			B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	pfam_Pex14_N	p.T31	ENST00000356607.4	37	c.93	CCDS30582.1	1																																																																																			PEX14	-	pfam_Pex14_N	ENSG00000142655		0.463	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	-	0	49	0	G			10596278	1	tier1	-	no_errors	ENST00000356607	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.895	T	T	10596278	G	T	10596278	2	4	58	1	0	0	0	0	0	0	0	1	11781	1103	39	2		2	PEX14	1	10596278	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	925609	10596278	238654343	21	14404											
CASZ1	54897	genome.wustl.edu	37	chr1	10715751	10715751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccattgaggtggcagccGtggtagtagacgctgcagtc	7	10	14	10	2	0	2	0	1	0	1	2	2	1	2	2	3	2	5	2	3	2	4	rs575650869		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:10715751G>A	ENST00000377022.3	-	9	1937	c.1620C>T	c.(1618-1620)caC>caT	p.H540H	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.H540H	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	540					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTGGCAGCCGTGGTAGTAGA	0.637													G|||	1	0.000199681	0	0	5008	,	,		19641	0		0	False		,,,				2504	0.001																0													144	104	117					1																	10715751		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1620C>T	1.37:g.10715751G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H540	ENST00000377022.3	37	c.1620	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.637	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	69	0	G	NM_017766		10715751	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.982	A	A	10715751	G	A	10715751	2	1	58	1	0	0	0	0	0	0	0	1	2692	1136	40	1		1	CASZ1	1	10715751	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	119473	10715751	238534870	22	14405											
SRM	6723	genome.wustl.edu	37	chr1	11115982	11115982	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcagccactggcactcGcctgggggcccctaagcatc	7	6	13	15	1	0	0	0	0	0	0	2	0	0	0	4	4	3	3	4	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11115982G>T	ENST00000376957.2	-	6	701	c.621C>A	c.(619-621)ggC>ggA	p.G207G		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	207	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ACTGGCACTCGCCTGGGGGCC	0.682																																																	0													30	29	29					1																	11115982		2202	4300	6502	SO:0001630	splice_region_variant	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.620-1C>A	1.37:g.11115982G>T			B1AKP9|Q15511	Silent	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.G207	ENST00000376957.2	37	c.621	CCDS125.1	1																																																																																			SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.682	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1		0	59	0	G	NM_003132	Silent	11115982	-1			no_errors	ENST00000376957	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.001	T	T	11115982	G	T	11115982	5	4	58	1	0	0	0	0	0	0	1	0	15198	1101	38	2	299	2	SRM	1	11115982	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	400231	11115982	238134639	23	14406											
EXOSC10	5394	genome.wustl.edu	37	chr1	11136981	11136981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcagggaagaggctcGcctgcttctgaactggcaca	9	10	11	11	1	3	2	2	1	1	1	4	3	3	3	1	3	2	3	1	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11136981G>A	ENST00000376936.4	-	17	1953	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V	EXOSC10_ENST00000304457.7_Missense_Mutation_p.A635V|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	635					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GAAGAGGCTCGCCTGCTTCTG	0.413																																					Colon(179;105 1987 14326 27364 29542)												0													83	84	84					1																	11136981		2203	4300	6503	SO:0001583	missense	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1904C>T	1.37:g.11136981G>A	ENSP00000366135:p.Ala635Val		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom	p.A635V	ENST00000376936.4	37	c.1904	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	G	5.825	0.336423	0.11013	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.04	3.13	0.36017	.	0.562321	0.20279	N	0.095483	T	0.26846	0.0657	L	0.29908	0.895	0.09310	N	0.999997	B;B	0.19073	0.033;0.033	B;B	0.15484	0.013;0.009	T	0.15263	-1.0443	9	0.28530	T	0.3	-3.6558	6.5602	0.22481	0.0934:0.0:0.7202:0.1863	.	635;635	Q01780-2;Q01780	.;EXOSX_HUMAN	V	635	.	ENSP00000307307:A635V	A	-	2	0	EXOSC10	11059568	0.001000	0.12720	0.033000	0.17914	0.010000	0.07245	0.871000	0.28023	0.597000	0.29811	-0.291000	0.09656	GCG	EXOSC10	-	NULL	ENSG00000171824		0.413	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	-	0	25	0	G	NM_001001998		11136981	-1	tier1	-	no_errors	ENST00000376936	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.056	A	A	11136981	G	A	11136981	3	1	58	1	0	0	0	0	1	0	0	0	5330	1087	38	1	789	1	EXOSC10	1	11136981	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	20999	11136981	238113640	24	14407											
MTOR	2475	genome.wustl.edu	37	chr1	11204705	11204705	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttctaccaagctcacCtgcagtctctcccaccagat	8	10	7	16	0	3	1	1	0	2	1	5	1	4	1	4	1	3	3	4	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11204705C>A	ENST00000361445.4	-	34	4948	c.4872G>T	c.(4870-4872)caG>caT	p.Q1624H	MTOR-AS1_ENST00000445982.1_RNA|MTOR-AS1_ENST00000420480.1_RNA|MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1624	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCAAGCTCACCTGCAGTCTCT	0.572																																																	0													85	79	81					1																	11204705		2203	4300	6503	SO:0001630	splice_region_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4872+1G>T	1.37:g.11204705C>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1624H	ENST00000361445.4	37	c.4872	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540781	0.85917	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.71461	-0.57	5.67	5.67	0.87782	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85957	0.5818	M	0.82323	2.585	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	D	0.85869	0.1415	9	.	.	.	-6.8703	19.7824	0.96422	0.0:1.0:0.0:0.0	.	1624	P42345	MTOR_HUMAN	H	1624	ENSP00000354558:Q1624H	.	Q	-	3	2	MTOR	11127292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.365000	0.79537	2.677000	0.91161	0.561000	0.74099	CAG	MTOR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000198793		0.572	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	46	0	C	NM_004958	Missense_Mutation	11204705	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A	A	11204705	C	A	11204705	5	1	58	1	0	0	0	0	0	0	1	0	9992	695	24	3	2877	3	MTOR	1	11204705	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	67724	11204705	238045916	25	14408											
FBXO6	26270	genome.wustl.edu	37	chr1	11733420	11733420	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtgttggcctccttcgAgcccccacctgtgaccatcc	4	11	8	18	2	0	1	0	1	0	0	4	2	2	1	7	1	1	1	7	1	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11733420A>G	ENST00000376753.4	+	5	731	c.596A>G	c.(595-597)gAg>gGg	p.E199G		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	199	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCTTCGAGCCCCCACCT	0.597																																					NSCLC(54;506 1562 46490 51389)												0													77	64	68					1																	11733420		2203	4300	6503	SO:0001583	missense	0			AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"F-boxes /  "other""	13585	protein-coding gene	gene with protein product		605647	"F-box only protein 6"			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.596A>G	1.37:g.11733420A>G	ENSP00000365944:p.Glu199Gly		B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom	p.E199G	ENST00000376753.4	37	c.596	CCDS133.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.31|11.31	1.601377|1.601377	0.28534|0.28534	.|.	.|.	ENSG00000116663|ENSG00000116663	ENST00000376753|ENST00000449067	T|.	0.32753|.	1.44|.	5.59|5.59	4.47|4.47	0.54385|0.54385	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);|.	0.607539|.	0.18948|.	N|.	0.126744|.	T|T	0.53254|0.53254	0.1785|0.1785	M|M	0.72118|0.72118	2.19|2.19	0.28780|0.28780	N|N	0.899895|0.899895	P|.	0.36086|.	0.536|.	B|.	0.40256|.	0.324|.	T|T	0.52109|0.52109	-0.8619|-0.8619	10|5	0.35671|.	T|.	0.21|.	.|.	7.128|7.128	0.25484|0.25484	0.8245:0.0:0.1755:0.0|0.8245:0.0:0.1755:0.0	.|.	199|.	Q9NRD1|.	FBX6_HUMAN|.	G|G	199|155	ENSP00000365944:E199G|.	ENSP00000365944:E199G|.	E|S	+|+	2|1	0|0	FBXO6|FBXO6	11656007|11656007	0.974000|0.974000	0.33945|0.33945	1.000000|1.000000	0.80357|0.80357	0.364000|0.364000	0.29643|0.29643	1.960000|1.960000	0.40422|0.40422	0.964000|0.964000	0.38108|0.38108	0.379000|0.379000	0.24179|0.24179	GAG|AGC	FBXO6	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000116663		0.597	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO6	HGNC	protein_coding	OTTHUMT00000006332.1	-	0	57	0	A	NM_018438		11733420	1	tier1	-	no_errors	ENST00000376753	ensembl	human	known	74_37	missense	30.56	24	11	SNP	0.994	G	G	11733420	A	G	11733420	3	3	58	1	0	0	0	0	1	0	0	0	5781	304	11	4	610	4	FBXO6	1	11733420	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	528715	11733420	237517201	26	14409											
KIAA2013	90231	genome.wustl.edu	37	chr1	11983512	11983512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggtgaggccagacggCgtgtgggtgtcagtgatctt	6	11	16	8	3	3	3	2	2	1	1	3	3	3	3	1	4	0	0	1	4	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11983512C>T	ENST00000376572.3	-	2	1253	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	KIAA2013_ENST00000376576.3_Silent_p.T356T	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	356						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCAGACGGCGTGTGGGTGT	0.572																																																	0													136	123	128					1																	11983512		2203	4300	6503	SO:0001819	synonymous_variant	0			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1068G>A	1.37:g.11983512C>T			Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	pfam_DUF2152	p.T356	ENST00000376572.3	37	c.1068	CCDS141.1	1																																																																																			KIAA2013	-	pfam_DUF2152	ENSG00000116685		0.572	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	-	0	87	0	C	NM_138346		11983512	-1	tier1	-	no_errors	ENST00000376576	ensembl	human	known	74_37	silent	42.86	60	45	SNP	0.035	T	T	11983512	C	T	11983512	2	4	58	1	0	0	0	0	0	0	0	1	8294	755	27	1		1	KIAA2013	1	11983512	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	250092	11983512	237267109	27	14410											
PLOD1	5351	genome.wustl.edu	37	chr1	12012719	12012719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacctcagcaaactggtggCcgagtgggagggccaggaca	11	4	15	11	1	1	0	1	0	0	0	1	3	1	2	3	5	3	1	3	5	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12012719C>T	ENST00000196061.4	+	5	533	c.506C>T	c.(505-507)gCc>gTc	p.A169V	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.A216V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	169					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AAACTGGTGGCCGAGTGGGAG	0.592																																																	0													105	94	97					1																	12012719		2203	4300	6503	SO:0001583	missense	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.506C>T	1.37:g.12012719C>T	ENSP00000196061:p.Ala169Val		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.A216V	ENST00000196061.4	37	c.647	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916567	0.73098	.	.	ENSG00000083444	ENST00000449038;ENST00000358133;ENST00000376369;ENST00000429000;ENST00000196061	T;T;T;T	0.22134	2.45;1.97;1.97;1.97	4.61	3.67	0.42095	.	0.182670	0.46758	D	0.000261	T	0.27349	0.0671	L	0.59436	1.845	0.39613	D	0.969905	D;B	0.53151	0.958;0.266	P;B	0.49999	0.628;0.125	T	0.04053	-1.0981	10	0.38643	T	0.18	.	9.2637	0.37627	0.1738:0.6784:0.1478:0.0	.	216;169	B4DR87;Q02809	.;PLOD1_HUMAN	V	216;169;216;169;169	ENSP00000414443:A216V;ENSP00000365548:A216V;ENSP00000405372:A169V;ENSP00000196061:A169V	ENSP00000196061:A169V	A	+	2	0	PLOD1	11935306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	1.110000	0.41699	0.555000	0.69702	GCC	PLOD1	-	NULL	ENSG00000083444		0.592	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	-	0	92	0	C	NM_000302		12012719	1	tier1	-	no_errors	ENST00000376369	ensembl	human	known	74_37	missense	38.89	44	28	SNP	1.000	T	T	12012719	C	T	12012719	3	4	58	1	0	0	0	0	1	0	0	0	12140	739	26	3	524	3	PLOD1	1	12012719	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	29207	12012719	237237902	28	14411											
MFN2	9927	genome.wustl.edu	37	chr1	12064057	12064057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctttcagggtttactGcgaggaaatgcgtgaagagc	9	11	13	8	2	2	2	1	1	1	1	2	4	2	3	0	2	5	2	0	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12064057G>A	ENST00000235329.5	+	12	1491	c.1169G>A	c.(1168-1170)tGc>tAc	p.C390Y	MFN2_ENST00000444836.1_Missense_Mutation_p.C390Y	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	390					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGGTTTACTGCGAGGAAATG	0.502																																																	0													69	70	70					1																	12064057		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1169G>A	1.37:g.12064057G>A	ENSP00000235329:p.Cys390Tyr		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.C390Y	ENST00000235329.5	37	c.1169	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971469	0.74246	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.94723	-3.5;-3.5	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	L	0.56769	1.78	0.80722	D	1	D	0.54397	0.966	P	0.55667	0.781	D	0.92920	0.6354	10	0.14252	T	0.57	-24.8331	18.809	0.92050	0.0:0.0:1.0:0.0	.	390	O95140	MFN2_HUMAN	Y	390;390;88	ENSP00000416338:C390Y;ENSP00000235329:C390Y	ENSP00000235329:C390Y	C	+	2	0	MFN2	11986644	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.168000	0.71908	2.688000	0.91661	0.650000	0.86243	TGC	MFN2	-	superfamily_P-loop_NTPase	ENSG00000116688		0.502	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0	39	0	G	NM_014874		12064057	1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	12064057	G	A	12064057	3	1	58	1	0	0	0	0	1	0	0	0	9562	1319	46	3	1207	3	MFN2	1	12064057	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	51338	12064057	237186564	29	14412											
VPS13D	55187	genome.wustl.edu	37	chr1	12387744	12387744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttggttgtttaagaatgCggaacctctgaagtctcttt	10	15	10	6	1	2	2	0	1	2	1	3	3	2	3	1	2	2	3	1	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12387744C>T	ENST00000358136.3	+	36	8160	c.8030C>T	c.(8029-8031)gCg>gTg	p.A2677V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2677V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTAAGAATGCGGAACCTCTG	0.502																																																	0													175	182	180					1																	12387744		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8030C>T	1.37:g.12387744C>T	ENSP00000350854:p.Ala2677Val			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A2677V	ENST00000358136.3	37	c.8030	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.714859|5.714859	0.96830|0.96830	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.40756|.	1.02;1.02|.	5.81|5.81	5.81|5.81	0.92471|0.92471	UBA-like (1);|.	0.270105|.	0.37136|.	N|.	0.002232|.	T|T	0.78039|0.78039	0.4221|0.4221	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.878;0.963|.	D;P;P|.	0.80764|.	0.994;0.53;0.603|.	T|T	0.76260|0.76260	-0.3024|-0.3024	10|5	0.34782|.	T|.	0.22|.	.|.	20.0621|20.0621	0.97678|0.97678	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	584;2677;2677|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	V|W	2677|1500	ENSP00000348666:A2677V;ENSP00000350854:A2677V|.	ENSP00000348666:A2677V|.	A|R	+|+	2|1	0|2	VPS13D|VPS13D	12310331|12310331	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.991000|0.991000	0.79684|0.79684	7.445000|7.445000	0.80570|0.80570	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCG|CGG	VPS13D	-	superfamily_UBA-like	ENSG00000048707		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	72	0	C	NM_015378		12387744	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	37.04	68	40	SNP	1.000	T	T	12387744	C	T	12387744	3	4	58	1	0	0	0	0	1	0	0	0	17241	768	27	1	8168	1	VPS13D	1	12387744	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	323687	12387744	236862877	30	14413											
HNRNPCL1	343069	genome.wustl.edu	37	chr1	12908012	12908012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttatgaacagagcagcccGcaattttgccatacttggaa	12	10	8	11	1	0	2	0	1	0	1	0	3	0	3	3	1	5	2	3	1	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12908012G>A	ENST00000317869.6	-	2	356	c.131C>T	c.(130-132)gCg>gTg	p.A44V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	44	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGAGCAGCCCGCAATTTTGCC	0.478																																																	0													119	114	116					1																	12908012		2203	4300	6503	SO:0001583	missense	0			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"RNA binding motif (RRM) containing"	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.131C>T	1.37:g.12908012G>A	ENSP00000365370:p.Ala44Val		B2RP44	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.A44V	ENST00000317869.6	37	c.131	CCDS30591.1	1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.482813	0.01027	.	.	ENSG00000179172	ENST00000317869	T	0.14516	2.5	1.09	-2.18	0.07037	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.098980	0.39146	N	0.001449	T	0.03220	0.0094	N	0.04090	-0.28	0.25154	N	0.990402	B	0.02656	0.0	B	0.06405	0.002	T	0.34179	-0.9839	10	0.02654	T	1	.	2.1978	0.03916	0.5515:0.0:0.202:0.2465	.	44	O60812	HNRCL_HUMAN	V	44	ENSP00000365370:A44V	ENSP00000365370:A44V	A	-	2	0	HNRNPCL1	12830599	1.000000	0.71417	0.037000	0.18230	0.019000	0.09904	4.522000	0.60539	-0.874000	0.04027	-0.482000	0.04802	GCG	HNRNPCL1	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	ENSG00000179172		0.478	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	HGNC	protein_coding	OTTHUMT00000005462.1	-	0	309	0	G	NM_001013631		12908012	-1	tier1	-	no_errors	ENST00000317869	ensembl	human	known	74_37	missense	9.09	240	24	SNP	1.000	A	A	12908012	G	A	12908012	3	1	58	1	0	0	0	0	1	0	0	0	7290	1087	38	1	752	1	HNRNPCL1	1	12908012	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	520268	12908012	236342609	31	14414											
TMEM51	55092	genome.wustl.edu	37	chr1	15545853	15545853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaggatgaggaggctGcctcaaggtactatgttccc	11	8	14	8	0	1	2	1	1	0	1	2	5	2	5	2	5	2	3	2	5	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:15545853G>T	ENST00000428417.1	+	3	822	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	TMEM51_ENST00000376008.2_Missense_Mutation_p.A126S|TMEM51_ENST00000400796.3_Missense_Mutation_p.A126S|TMEM51_ENST00000376014.3_Missense_Mutation_p.A126S|TMEM51_ENST00000434578.2_Silent_p.L124L	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	126						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		TGAGGAGGCTGCCTCAAGGTA	0.517																																																	0													86	82	83					1																	15545853		2203	4300	6503	SO:0001583	missense	0			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.376G>T	1.37:g.15545853G>T	ENSP00000394899:p.Ala126Ser		A8K819	Missense_Mutation	SNP	NULL	p.A126S	ENST00000428417.1	37	c.376	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	8.832	0.940253	0.18281	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.63	0.0845	0.14437	.	0.740406	0.13990	N	0.348858	T	0.08133	0.0203	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30937	-0.9961	10	0.12430	T	0.62	-0.5108	1.8263	0.03121	0.2245:0.0943:0.1708:0.5104	.	126	Q9NW97	TMM51_HUMAN	S	126	ENSP00000394899:A126S;ENSP00000365182:A126S;ENSP00000383600:A126S;ENSP00000365176:A126S	ENSP00000303666:A126S	A	+	1	0	TMEM51	15418440	0.006000	0.16342	0.193000	0.23327	0.947000	0.59692	0.238000	0.18004	0.033000	0.15463	-0.324000	0.08512	GCC	TMEM51	-	NULL	ENSG00000171729		0.517	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3		0	45	0	G	NM_018022		15545853	1			no_errors	ENST00000376008	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.017	T	T	15545853	G	T	15545853	3	4	58	1	0	0	0	0	1	0	0	0	16224	1319	46	3	382	3	TMEM51	1	15545853	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2637841	15545853	233704768	32	14415											
TMEM51	55092	genome.wustl.edu	37	chr1	15546112	15546112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattaaatctgaaaagcttcAcctcaaagactttaggatca	16	11	6	8	0	4	2	3	1	1	1	4	4	4	3	1	1	1	1	1	1	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:15546112A>G	ENST00000428417.1	+	3	1081	c.635A>G	c.(634-636)cAc>cGc	p.H212R	TMEM51_ENST00000376008.2_Missense_Mutation_p.H212R|TMEM51_ENST00000400796.3_Missense_Mutation_p.H212R|TMEM51_ENST00000376014.3_Missense_Mutation_p.H212R|TMEM51_ENST00000434578.2_3'UTR	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	212						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GAAAAGCTTCACCTCAAAGAC	0.512																																																	0													72	85	81					1																	15546112		2203	4300	6503	SO:0001583	missense	0			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 72"	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.635A>G	1.37:g.15546112A>G	ENSP00000394899:p.His212Arg		A8K819	Missense_Mutation	SNP	NULL	p.H212R	ENST00000428417.1	37	c.635	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089606	0.76756	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.53	5.53	0.82687	.	0.086055	0.85682	D	0.000000	T	0.54822	0.1882	L	0.55834	1.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52064	-0.8625	10	0.39692	T	0.17	-1.4338	14.8396	0.70214	1.0:0.0:0.0:0.0	.	212	Q9NW97	TMM51_HUMAN	R	212	ENSP00000394899:H212R;ENSP00000365182:H212R;ENSP00000383600:H212R;ENSP00000365176:H212R	ENSP00000303666:H212R	H	+	2	0	TMEM51	15418699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.182000	0.71995	2.107000	0.64212	0.454000	0.30748	CAC	TMEM51	-	NULL	ENSG00000171729		0.512	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	-	0	25	0	A	NM_018022		15546112	1	tier1	-	no_errors	ENST00000376008	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	G	G	15546112	A	G	15546112	3	3	58	1	0	0	0	0	1	0	0	0	16224	159	6	4	641	4	TMEM51	1	15546112	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	259	15546112	233704509	33	14416											
PLEKHM2	23207	genome.wustl.edu	37	chr1	16053915	16053915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggatgccccggagaggccgCcgctttgcgactttagtgag	6	8	16	11	4	0	2	0	1	0	1	0	5	0	3	4	3	2	1	4	3	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16053915C>T	ENST00000375799.3	+	9	1575	c.1348C>T	c.(1348-1350)Ccg>Tcg	p.P450S	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.P430S	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	450					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGAGAGGCCGCCGCTTTGCGA	0.637																																																	0													9	10	10					1																	16053915		1843	4080	5923	SO:0001583	missense	0			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"Pleckstrin homology (PH) domain containing"	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1348C>T	1.37:g.16053915C>T	ENSP00000364956:p.Pro450Ser		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.P450S	ENST00000375799.3	37	c.1348	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	3.812	-0.039449	0.07497	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.48201	0.88;0.82	5.43	3.52	0.40303	.	0.186107	0.47093	N	0.000242	T	0.26955	0.0660	N	0.17082	0.46	0.09310	N	1	B	0.25850	0.136	B	0.18871	0.023	T	0.13072	-1.0523	10	0.41790	T	0.15	-1.3753	6.2651	0.20922	0.0:0.6483:0.1512:0.2004	.	450	Q8IWE5	PKHM2_HUMAN	S	450;430	ENSP00000364956:P450S;ENSP00000364950:P430S	ENSP00000364950:P430S	P	+	1	0	PLEKHM2	15926502	0.215000	0.23574	0.049000	0.19019	0.114000	0.19823	2.308000	0.43690	0.628000	0.30357	-0.140000	0.14226	CCG	PLEKHM2	-	NULL	ENSG00000116786		0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	-	0	31	0	C	NM_015164		16053915	1	tier1	-	no_errors	ENST00000375799	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.000	T	T	16053915	C	T	16053915	3	4	58	1	0	0	0	0	1	0	0	0	12120	739	26	3	1382	3	PLEKHM2	1	16053915	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	507803	16053915	233196706	34	14417											
FAM131C	348487	genome.wustl.edu	37	chr1	16385004	16385004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagggagcccggggggtgGgtcccaccctcgggtccttg	3	6	20	12	2	0	0	0	0	0	0	3	2	2	2	4	7	1	0	4	7	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16385004G>A	ENST00000375662.4	-	7	954	c.771C>T	c.(769-771)acC>acT	p.T257T	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	257	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGGGGGTGGGTCCCACCCT	0.721																																																	0													3	3	3					1																	16385004		1430	3200	4630	SO:0001819	synonymous_variant	0				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 117"	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.771C>T	1.37:g.16385004G>A			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	superfamily_Chromodomain-like	p.T257	ENST00000375662.4	37	c.771	CCDS41270.1	1																																																																																			FAM131C	-	NULL	ENSG00000185519		0.721	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1		0	63	0	G	NM_182623		16385004	-1			no_errors	ENST00000375662	ensembl	human	known	74_37	silent	9.38	58	6	SNP	0.004	A	A	16385004	G	A	16385004	2	1	58	1	0	0	0	0	0	0	0	1	5460	1219	43	3		3	FAM131C	1	16385004	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	331089	16385004	232865617	35	14418											
SPATA21	374955	genome.wustl.edu	37	chr1	16748029	16748029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaggccccggtgctGggtgggtctccacagcctca	7	6	16	12	1	2	1	1	0	1	1	3	3	2	2	4	5	2	1	4	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16748029G>T	ENST00000335496.1	-	5	601	c.119C>A	c.(118-120)cCa>cAa	p.P40Q	SPATA21_ENST00000466212.1_Intron|SPATA21_ENST00000540400.1_Intron	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	40							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCCGGTGCTGGGTGGGTCTC	0.642																																																	0													45	46	46					1																	16748029		2203	4300	6503	SO:0001583	missense	0				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.119C>A	1.37:g.16748029G>T	ENSP00000335612:p.Pro40Gln		B9EK40|F5GXP5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.P40Q	ENST00000335496.1	37	c.119	CCDS172.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079241	0.36662	.	.	ENSG00000187144	ENST00000335496	T	0.64991	-0.13	3.14	2.23	0.28157	.	1.070250	0.07439	N	0.896977	T	0.45054	0.1323	L	0.29908	0.895	0.09310	N	0.999998	P	0.44877	0.845	B	0.36719	0.231	T	0.28299	-1.0048	10	0.31617	T	0.26	.	6.3451	0.21345	0.1372:0.0:0.8628:0.0	.	40	Q7Z572	SPT21_HUMAN	Q	40	ENSP00000335612:P40Q	ENSP00000335612:P40Q	P	-	2	0	SPATA21	16620616	0.136000	0.22515	0.010000	0.14722	0.313000	0.28021	1.451000	0.35145	0.912000	0.36772	0.555000	0.69702	CCA	SPATA21	-	NULL	ENSG00000187144		0.642	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	HGNC	protein_coding	OTTHUMT00000006677.2	-	0	43	0	G	NM_198546		16748029	-1	tier1	-	no_errors	ENST00000335496	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.011	T	T	16748029	G	T	16748029	3	4	58	1	0	0	0	0	1	0	0	0	15054	1348	47	3	1326	3	SPATA21	1	16748029	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	363025	16748029	232502592	36	14419											
CROCC	9696	genome.wustl.edu	37	chr1	17297165	17297165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgtagccatgaggacaCagtgcggctgagcgcagaga	10	6	15	10	3	0	3	0	2	0	1	1	5	0	4	1	2	3	4	1	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:17297165C>T	ENST00000375541.5	+	35	5756	c.5687C>T	c.(5686-5688)aCa>aTa	p.T1896I		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CATGAGGACACAGTGCGGCTG	0.657																																																	0													30	32	31					1																	17297165		2201	4299	6500	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5687C>T	1.37:g.17297165C>T	ENSP00000364691:p.Thr1896Ile			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.T1896I	ENST00000375541.5	37	c.5687	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717265	0.48622	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09445	2.98	4.6	3.61	0.41365	.	.	.	.	.	T	0.11067	0.0270	L	0.39633	1.23	0.37679	D	0.923414	P;P;P	0.40050	0.642;0.7;0.502	B;B;B	0.41860	0.318;0.368;0.217	T	0.23119	-1.0197	9	0.24483	T	0.36	.	12.15	0.54044	0.0:0.8259:0.174:0.0	.	1777;1199;1896	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	I	1896;1777	ENSP00000364691:T1896I	ENSP00000364691:T1896I	T	+	2	0	CROCC	17169752	0.995000	0.38212	0.913000	0.36048	0.596000	0.36781	3.614000	0.54160	2.275000	0.75901	0.655000	0.94253	ACA	CROCC	-	NULL	ENSG00000058453		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0	54	0	C	NM_014675		17297165	1	tier1	-	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	46.81	25	22	SNP	0.947	T	T	17297165	C	T	17297165	3	4	58	1	0	0	0	0	1	0	0	0	3900	478	17	3	5825	3	CROCC	1	17297165	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	549136	17297165	231953456	37	14420											
ATP13A2	23400	genome.wustl.edu	37	chr1	17316763	17316763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccgggccacagtcacCgctgtctgcaggttgtcccc	5	7	11	18	2	2	0	1	0	1	0	3	0	3	0	6	2	2	3	6	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:17316763C>T	ENST00000326735.8	-	21	2304	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.A752A|ATP13A2_ENST00000452699.1_Silent_p.A752A			Q9NQ11	AT132_HUMAN	ATPase type 13A2	757					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCACAGTCACCGCTGTCTGCA	0.632																																																	0													38	45	43					1																	17316763		2202	4300	6502	SO:0001819	synonymous_variant	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2271G>A	1.37:g.17316763C>T			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.A757	ENST00000326735.8	37	c.2271	CCDS175.1	1																																																																																			ATP13A2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000159363		0.632	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	-	0	76	0	C	NM_022089		17316763	-1	tier1	-	no_errors	ENST00000326735	ensembl	human	known	74_37	silent	38.78	30	19	SNP	0.000	T	T	17316763	C	T	17316763	2	4	58	1	0	0	0	0	0	0	0	1	1125	639	23	1		1	ATP13A2	1	17316763	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	19598	17316763	231933858	38	14421											
ALDH4A1	8659	genome.wustl.edu	37	chr1	19199403	19199403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccttgatgacctgcggcGacgtccagcgcaggatgtag	7	9	13	12	4	1	2	0	2	1	0	3	4	2	3	3	2	2	2	3	2	1	2	rs149468487		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:19199403G>A	ENST00000375341.3	-	15	1885	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.S483L|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.S543L|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.S492L	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	543					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCGGCGACGTCCAGCG	0.587																																																	0								G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	119	107	111		1448,1628,1628	4.8	1	1	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	483/504,543/564,543/564	19199403	1,13005	2203	4300	6503	SO:0001583	missense	0			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"Aldehyde dehydrogenases"	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1628C>T	1.37:g.19199403G>A	ENSP00000364490:p.Ser543Leu		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.S543L	ENST00000375341.3	37	c.1628	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.168847	0.94768	0.0	1.16E-4	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.82	4.82	0.62117	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.269268	0.37348	N	0.002129	T	0.56307	0.1976	M	0.78285	2.405	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.63134	-0.6705	10	0.87932	D	0	-0.1175	16.4487	0.83972	0.0:0.0:1.0:0.0	.	543	P30038	AL4A1_HUMAN	L	543;543;492;483	ENSP00000290597:S543L;ENSP00000364490:S543L;ENSP00000446071:S492L;ENSP00000442988:S483L	ENSP00000290597:S543L	S	-	2	0	ALDH4A1	19071990	1.000000	0.71417	0.991000	0.47740	0.925000	0.55904	9.504000	0.97986	2.241000	0.73720	0.563000	0.77884	TCG	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	ENSG00000159423		0.587	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	-	0	28	0	G			19199403	-1	tier1	rs149468487	no_errors	ENST00000290597	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A	A	19199403	G	A	19199403	3	1	58	1	0	0	0	0	1	0	0	0	501	1059	37	1	67	1	ALDH4A1	1	19199403	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1882640	19199403	230051218	39	14422											
PINK1	65018	genome.wustl.edu	37	chr1	20975711	20975711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgagggcactgctccagcGagaggccagcaaggtgaggc	9	4	18	10	1	0	3	0	2	0	1	1	4	1	3	2	5	3	3	2	5	1	0	rs143620063		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:20975711G>A	ENST00000321556.4	+	7	1569	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCTCCAGCGAGAGGCCAGC	0.617																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0								G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	53	53	53		1475	6.2	1	1	dbSNP_134	53	0,8600		0,0,4300	no	missense	PINK1	NM_032409.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	492/582	20975711	2,13004	2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1475G>A	1.37:g.20975711G>A	ENSP00000364204:p.Arg492Gln		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R492Q	ENST00000321556.4	37	c.1475	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004824	0.93287	4.54E-4	0.0	ENSG00000158828	ENST00000321556	T	0.74002	-0.8	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055037	0.64402	D	0.000001	D	0.84370	0.5457	M	0.64080	1.96	0.48696	D	0.999693	D;D	0.89917	1.0;1.0	D;D	0.74348	0.946;0.983	D	0.84115	0.0403	10	0.59425	D	0.04	-5.7246	16.3795	0.83443	0.0:0.0:1.0:0.0	.	185;492	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	Q	492	ENSP00000364204:R492Q	ENSP00000364204:R492Q	R	+	2	0	PINK1	20848298	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.564000	0.67359	2.941000	0.99782	0.655000	0.94253	CGA	PINK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000158828		0.617	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0	18	0	G	NM_032409		20975711	1	tier1	rs143620063	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	A	A	20975711	G	A	20975711	3	1	58	1	0	0	0	0	1	0	0	0	11971	1058	37	1	1501	1	PINK1	1	20975711	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1776308	20975711	228274910	40	14423											
PINK1	65018	genome.wustl.edu	37	chr1	20976948	20976948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccatctgcccgagtagccGcaaatgtgcttcatctaagc	10	9	9	13	2	3	0	1	0	2	0	3	2	3	0	3	0	4	3	3	0	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:20976948G>A	ENST00000321556.4	+	8	1604	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	504	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.A504T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGAGTAGCCGCAAATGTGCT	0.502																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												1	Substitution - Missense(1)	kidney(1)											55	46	49					1																	20976948		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"Parkinson disease"	14581	protein-coding gene	gene with protein product		608309	"Parkinson disease (autosomal recessive) 6"	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1510G>A	1.37:g.20976948G>A	ENSP00000364204:p.Ala504Thr		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A504T	ENST00000321556.4	37	c.1510	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.057409	0.93846	.	.	ENSG00000158828	ENST00000321556	T	0.73897	-0.79	5.83	5.83	0.93111	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88696	0.3212	10	0.72032	D	0.01	-21.0967	15.6208	0.76805	0.0:0.0:1.0:0.0	.	197;504	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	T	504	ENSP00000364204:A504T	ENSP00000364204:A504T	A	+	1	0	PINK1	20849535	1.000000	0.71417	0.942000	0.38095	0.947000	0.59692	7.702000	0.84576	2.755000	0.94549	0.491000	0.48974	GCA	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000158828		0.502	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0	68	0	G	NM_032409		20976948	1	tier1	-	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	37.35	52	31	SNP	0.999	A	A	20976948	G	A	20976948	3	1	58	1	0	0	0	0	1	0	0	0	11971	1087	38	1	1540	1	PINK1	1	20976948	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1237	20976948	228273673	41	14424											
HP1BP3	50809	genome.wustl.edu	37	chr1	21106855	21106855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcacctaacttgtccgCgtggatcagctgagctccta	8	11	8	14	2	2	1	2	1	0	0	4	2	4	2	4	1	4	2	4	1	3	4	rs142958960		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21106855C>T	ENST00000312239.5	-	2	218	c.79G>A	c.(79-81)Gcg>Acg	p.A27T	HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375000.1_Missense_Mutation_p.A27T	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	27					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACTTGTCCGCGTGGATCAGC	0.498																																																	0								C	THR/ALA	0,4406		0,0,2203	129	101	111		79	3.8	1	1	dbSNP_134	111	5,8595	3.7+/-12.6	0,5,4295	yes	missense	HP1BP3	NM_016287.3	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	27/554	21106855	5,13001	2203	4300	6503	SO:0001583	missense	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.79G>A	1.37:g.21106855C>T	ENSP00000312625:p.Ala27Thr		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.A27T	ENST00000312239.5	37	c.79	CCDS30621.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823725	0.50739	0.0	5.81E-4	ENSG00000127483	ENST00000312239;ENST00000438032;ENST00000417710;ENST00000375000;ENST00000414993	T;T	0.46451	0.87;1.82	5.71	3.83	0.44106	.	0.197995	0.35936	N	0.002892	T	0.19805	0.0476	N	0.12182	0.205	0.28411	N	0.918161	B;B	0.12013	0.005;0.002	B;B	0.12837	0.008;0.001	T	0.09335	-1.0679	10	0.30078	T	0.28	-4.3957	2.4719	0.04566	0.1558:0.5277:0.1505:0.166	.	27;27	Q5SSJ5-5;Q5SSJ5	.;HP1B3_HUMAN	T	27	ENSP00000312625:A27T;ENSP00000403039:A27T	ENSP00000312625:A27T	A	-	1	0	HP1BP3	20979442	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.337000	0.19841	0.749000	0.32854	-0.188000	0.12872	GCG	HP1BP3	-	NULL	ENSG00000127483		0.498	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	-	0	61	0	C	NM_016287		21106855	-1	tier1	rs142958960	no_errors	ENST00000312239	ensembl	human	known	74_37	missense	39.74	45	31	SNP	1.000	T	T	21106855	C	T	21106855	3	4	58	1	0	0	0	0	1	0	0	0	7355	768	27	1	1630	1	HP1BP3	1	21106855	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	129907	21106855	228143766	42	14425											
ECE1	1889	genome.wustl.edu	37	chr1	21554464	21554464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggtgcctgcaggatccCggccggaaacacaatctcat	11	7	11	12	2	1	0	1	0	1	0	3	3	2	2	3	4	3	1	3	4	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21554464C>T	ENST00000374893.6	-	15	1815	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	ECE1_ENST00000415912.2_Missense_Mutation_p.G565R|ECE1_ENST00000436918.2_Missense_Mutation_p.G581R|ECE1_ENST00000264205.6_Missense_Mutation_p.G578R|ECE1_ENST00000357071.4_Missense_Mutation_p.G569R	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	581					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGCAGGATCCCGGCCGGAAAC	0.607																																																	0													99	75	83					1																	21554464		2198	4289	6487	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1741G>A	1.37:g.21554464C>T	ENSP00000364028:p.Gly581Arg		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.G581R	ENST00000374893.6	37	c.1741	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587573	0.86851	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	4.95	4.95	0.65309	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.053534	0.85682	D	0.000000	D	0.95809	0.8636	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.999;0.995;0.995	D	0.97767	1.0224	10	0.87932	D	0	-33.1007	17.1454	0.86765	0.0:1.0:0.0:0.0	.	581;565;581;569;578	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	R	565;569;581;581;578	ENSP00000405088:G565R;ENSP00000349581:G569R;ENSP00000364028:G581R;ENSP00000388439:G581R;ENSP00000264205:G578R	ENSP00000264205:G578R	G	-	1	0	ECE1	21427051	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	7.656000	0.83736	2.448000	0.82819	0.650000	0.86243	GGG	ECE1	-	pfam_Peptidase_M13_C,prints_Peptidase_M13_C	ENSG00000117298		0.607	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	-	0	37	0	C	NM_001397		21554464	-1	tier1	-	no_errors	ENST00000374893	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	T	T	21554464	C	T	21554464	3	4	58	1	0	0	0	0	1	0	0	0	4903	652	23	1	591	1	ECE1	1	21554464	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	447609	21554464	227696157	43	14426											
ECE1	1889	genome.wustl.edu	37	chr1	21586835	21586835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgttcatgcacgcacggtAgtatacttgcgcctttctct	6	14	8	13	4	2	0	1	0	1	0	4	0	2	0	1	1	3	5	1	1	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21586835A>G	ENST00000374893.6	-	5	618	c.544T>C	c.(544-546)Tac>Cac	p.Y182H	ECE1_ENST00000415912.2_Missense_Mutation_p.Y166H|ECE1_ENST00000436918.2_Missense_Mutation_p.Y182H|ECE1_ENST00000264205.6_Missense_Mutation_p.Y179H|ECE1_ENST00000357071.4_Missense_Mutation_p.Y170H	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	182					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CACGCACGGTAGTATACTTGC	0.577																																																	0													327	288	301					1																	21586835		2203	4300	6503	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.544T>C	1.37:g.21586835A>G	ENSP00000364028:p.Tyr182His		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Y182H	ENST00000374893.6	37	c.544	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364186	0.82353	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000473505	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.34	5.34	0.76211	Peptidase M13 (1);	0.061531	0.64402	D	0.000002	D	0.96253	0.8778	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.996;0.997;0.998;0.995;0.995	D	0.97137	0.9822	10	0.87932	D	0	-27.6355	14.1407	0.65318	1.0:0.0:0.0:0.0	.	182;166;182;170;179	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	H	166;170;182;182;179;68	ENSP00000405088:Y166H;ENSP00000349581:Y170H;ENSP00000364028:Y182H;ENSP00000388439:Y182H;ENSP00000264205:Y179H;ENSP00000431856:Y68H	ENSP00000264205:Y179H	Y	-	1	0	ECE1	21459422	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	8.883000	0.92426	2.020000	0.59435	0.260000	0.18958	TAC	ECE1	-	pfam_Peptidase_M13_N	ENSG00000117298		0.577	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	-	0	49	0	A	NM_001397		21586835	-1	tier1	-	no_errors	ENST00000374893	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	G	G	21586835	A	G	21586835	3	3	58	1	0	0	0	0	1	0	0	0	4903	420	15	4	1828	4	ECE1	1	21586835	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	32371	21586835	227663786	44	14427											
NBPF3	84224	genome.wustl.edu	37	chr1	21809667	21809667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgatggaagcagaagagCctgaagtcttgcaggactca	12	8	13	8	0	2	4	1	2	1	2	2	6	2	6	1	2	4	3	1	2	3	1	rs139757131	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21809667C>G	ENST00000318249.5	+	15	2040	c.1690C>G	c.(1690-1692)Cct>Gct	p.P564A	NBPF3_ENST00000454000.2_Missense_Mutation_p.P494A|NBPF3_ENST00000342104.5_Missense_Mutation_p.P552A|NBPF3_ENST00000318220.6_Missense_Mutation_p.P508A	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	564	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.			P -> A (in Ref. 5; CAD38998). {ECO:0000305}.		cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCAGAAGAGCCTGAAGTCTT	0.448													.|||	76	0.0151757	0.0015	0.0216	5008	,	,		16291	0		0.0358	False		,,,				2504	0.0235																0								C	ALA/PRO	19,4013		0,19,1997	51	52	52		1690	-2.1	0	1	dbSNP_134	52	295,7459		2,291,3584	no	missense	NBPF3	NM_032264.2	27	2,310,5581	GG,GC,CC		3.8045,0.4712,2.6642	benign	564/634	21809667	314,11472	2016	3877	5893	SO:0001583	missense	0			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"neuroblastoma breakpoint family"	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1690C>G	1.37:g.21809667C>G	ENSP00000316782:p.Pro564Ala		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.P564A	ENST00000318249.5	37	c.1690	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	3.585	-0.084731	0.07097	0.004712	0.038045	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	1.03	-2.07	0.07276	DUF1220 (2);	.	.	.	.	T	0.04543	0.0124	M	0.79475	2.455	0.09310	N	1	P;P;D	0.62365	0.64;0.504;0.991	B;B;D	0.66602	0.334;0.104;0.945	T	0.06110	-1.0845	9	0.56958	D	0.05	.	2.2868	0.04128	0.4235:0.3281:0.2484:0.0	.	494;552;564	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	A	494;508;564;552;508	ENSP00000415711:P494A;ENSP00000316739:P508A;ENSP00000316782:P564A;ENSP00000340336:P552A;ENSP00000391865:P508A	ENSP00000316739:P508A	P	+	1	0	NBPF3	21682254	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.521000	0.02239	-0.652000	0.05408	-0.746000	0.03513	CCT	NBPF3	-	pfam_NBPF_dom	ENSG00000142794		0.448	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		-	0	63	0	C	NM_032264		21809667	1	tier1	rs139757131	no_errors	ENST00000318249	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.000	G	G	21809667	C	G	21809667	3	3	58	1	0	0	0	0	1	0	0	0	10236	739	26	5	1744	5	NBPF3	1	21809667	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	222832	21809667	227440954	45	14428											
USP48	84196	genome.wustl.edu	37	chr1	22016515	22016515	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccaagggtgcctagggtGgcacagtcatcacttaaaat	12	8	11	10	1	2	0	2	0	0	0	2	0	2	0	2	3	1	1	2	3	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:22016515G>T	ENST00000308271.9	-	24	3609	c.2961C>A	c.(2959-2961)gcC>gcA	p.A987A	USP48_ENST00000400301.1_Silent_p.A935A|USP48_ENST00000374732.3_Silent_p.A473A|USP48_ENST00000529637.1_Silent_p.A999A	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	987	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGCCTAGGGTGGCACAGTCAT	0.383																																																	0													100	96	97					1																	22016515		2203	4300	6503	SO:0001819	synonymous_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2961C>A	1.37:g.22016515G>T			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.A987	ENST00000308271.9	37	c.2961	CCDS30623.1	1																																																																																			USP48	-	pfscan_Ubiquitin_supergroup	ENSG00000090686		0.383	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1		0	34	0	G	NM_032236		22016515	-1			no_errors	ENST00000308271	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.998	T	T	22016515	G	T	22016515	2	4	58	1	0	0	0	0	0	0	0	1	17128	1335	47	3		3	USP48	1	22016515	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	206848	22016515	227234106	46	14429											
HSPG2	3339	genome.wustl.edu	37	chr1	22168102	22168102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcagcggtaggtaccGtggttgctgggccgggtgcc	4	7	18	12	4	0	0	0	0	0	0	0	0	0	0	4	5	4	5	4	5	2	3	rs142555110		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:22168102G>A	ENST00000374695.3	-	70	9337	c.9258C>T	c.(9256-9258)caC>caT	p.H3086H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3086	Ig-like C2-type 16.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTAGGTACCGTGGTTGCTGG	0.617																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	127	100	109		9258	-9	0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3086/4392	22168102	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9258C>T	1.37:g.22168102G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.H3086	ENST00000374695.3	37	c.9258	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	158	0	G	NM_005529		22168102	-1	tier1	rs142555110	no_errors	ENST00000374695	ensembl	human	known	74_37	silent	34.19	77	40	SNP	0.003	A	A	22168102	G	A	22168102	2	1	58	1	0	0	0	0	0	0	0	1	7457	1136	40	1		1	HSPG2	1	22168102	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	151587	22168102	227082519	47	14430											
EPHB2	2048	genome.wustl.edu	37	chr1	23239995	23239995	+	Frame_Shift_Del	DEL	A	A	-																															tcactttggctggccaccagAaaaaaatcctgaacagtatc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:23239995delA	ENST00000400191.3	+	16	2911	c.2893delA	c.(2893-2895)aaafs	p.K966fs	EPHB2_ENST00000374630.3_Frame_Shift_Del_p.K966fs|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_Frame_Shift_Del_p.K967fs	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	966	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGGCCACCAGAAAAAAATCCT	0.542																																																	0													89	91	91					1																	23239995		2203	4300	6503	SO:0001589	frameshift_variant	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3393	protein-coding gene	gene with protein product		600997	"EphB2"	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2893delA	1.37:g.23239995delA	ENSP00000383053:p.Lys966fs		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I967fs	ENST00000400191.3	37	c.2893		1																																																																																			EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000133216		0.542	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2		0	96	0	A	NM_017449		23239995	1	tier1		no_errors	ENST00000400191	ensembl	human	known	74_37	frame_shift_del	42.86	40	30	DEL	1.000	-	-	23239995	A	-	23239995	7	5	58	1	0	1	0	1	0	0	0	0	5191	247	9	0	2958	0	EPHB2	1	23239995	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1071893	23239995	226010626	48	14431											
CLIC4	25932	genome.wustl.edu	37	chr1	25124245	25124245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaggctggcagtgatGgtgaaagcataggaaactgc	11	10	13	7	0	0	2	0	2	0	0	1	3	1	3	1	4	3	3	1	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:25124245G>T	ENST00000374379.4	+	2	282	c.85G>T	c.(85-87)Ggt>Tgt	p.G29C	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	29	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TGGCAGTGATGGTGAAAGCAT	0.383																																																	0													119	119	119					1																	25124245		2203	4300	6503	SO:0001583	missense	0			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"Ion channels / Chloride channels : Intracellular"	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.85G>T	1.37:g.25124245G>T	ENSP00000363500:p.Gly29Cys		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.G29C	ENST00000374379.4	37	c.85	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.372315	0.95923	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.27557	1.66	5.96	5.96	0.96718	Thioredoxin-like fold (2);	0.100108	0.64402	D	0.000001	T	0.59404	0.2191	M	0.75264	2.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.59815	-0.7383	10	0.87932	D	0	-17.7985	20.0059	0.97434	0.0:0.0:1.0:0.0	.	29	Q9Y696	CLIC4_HUMAN	C	29	ENSP00000363500:G29C	ENSP00000363500:G29C	G	+	1	0	CLIC4	24996832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.401000	0.97294	2.830000	0.97506	0.655000	0.94253	GGT	CLIC4	-	superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel	ENSG00000169504		0.383	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	HGNC	protein_coding	OTTHUMT00000009332.1	-	0	71	0	G	NM_013943		25124245	1	tier1	-	no_errors	ENST00000374379	ensembl	human	known	74_37	missense	42.53	50	37	SNP	1.000	T	T	25124245	G	T	25124245	3	4	58	1	0	0	0	0	1	0	0	0	3535	1348	47	3	91	3	CLIC4	1	25124245	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1884250	25124245	224126376	49	14432											
C1orf63	57035	genome.wustl.edu	37	chr1	25571794	25571795	+	Splice_Site	INS	-	-	A																															ctaacagctccattcgatctINSaaaaaaaaaagagagagatt																								rs543739883|rs113744649	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:25571794_25571795insA	ENST00000243189.7	-	3	797		c.e3-2		C1orf63_ENST00000417642.2_Splice_Site|C1orf63_ENST00000431849.2_Splice_Site|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN												breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATTCGATCTAAAAAAAAAAG	0.337																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000243189.7:c.521-2->T	1.37:g.25571804_25571804dupA			A8K917|Q49AA4|Q5TH71|Q9GZP6	Splice_Site	INS	-	e2-2	ENST00000243189.7	37	c.500-3_500-2	CCDS260.1	1																																																																																			C1orf63	-	-	ENSG00000117616		0.337	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	HGNC	protein_coding	OTTHUMT00000101966.2		0	16	0	-		Intron	25571795	-1	tier1		no_errors	ENST00000417642	ensembl	human	known	74_37	splice_site_ins	16.67	25	5	INS	0.972:0.056	A	A	25571795	-	A	25571794	8	5	58	1	0	1	1	0	0	0	1	0	2060	1536	53	0	365	0	C1orf63	1	25571794	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	447549	25571794	223678827	50	14433											
TMEM50A	23585	genome.wustl.edu	37	chr1	25667024	25667024	+	Frame_Shift_Del	DEL	G	G	-																															atgctcagaatgcattgactGgggggaaaagcgcaatacta																								rs147456847	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:25667024delG	ENST00000374358.4	+	2	600	c.47delG	c.(46-48)tggfs	p.W16fs	RNU6-1171P_ENST00000516706.1_RNA|TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TGCATTGACTGGGGGGAAAAG	0.378																																																	0													119	106	110					1																	25667024		2203	4300	6503	SO:0001589	frameshift_variant	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"small membrane protein 1"	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.47delG	1.37:g.25667024delG	ENSP00000363478:p.Trp16fs			Frame_Shift_Del	DEL	pfam_UPF0220	p.E18fs	ENST00000374358.4	37	c.47	CCDS264.1	1																																																																																			TMEM50A	-	pfam_UPF0220	ENSG00000183726		0.378	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50A	HGNC	protein_coding	OTTHUMT00000020313.1		0	127	0	G			25667024	1	tier1		no_errors	ENST00000374358	ensembl	human	known	74_37	frame_shift_del	33.33	90	45	DEL	1.000	-	-	25667024	G	-	25667024	7	5	58	1	0	1	0	1	0	0	0	0	16222	1357	47	0	49	0	TMEM50A	1	25667024	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	95230	25667024	223583597	51	14434											
AIM1L	55057	genome.wustl.edu	37	chr1	26648510	26648510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgtcctcatccggctcCcatagcaccacgtggtcccg	5	8	9	19	3	1	0	1	0	0	0	5	0	5	0	6	2	1	2	6	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:26648510C>A	ENST00000308182.5	-	19	2229	c.1800G>T	c.(1798-1800)tgG>tgT	p.W600C	AIM1L_ENST00000527815.1_Missense_Mutation_p.W771C			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	600	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CATCCGGCTCCCATAGCACCA	0.582																																																	0													74	65	68					1																	26648510		2203	4300	6503	SO:0001583	missense	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"beta-gamma crystallin domain containing 2"						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1800G>T	1.37:g.26648510C>A	ENSP00000310435:p.Trp600Cys		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.W771C	ENST00000308182.5	37	c.2313		1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712435	0.48517	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.52754	0.65;0.65	5.29	5.29	0.74685	Ricin B-related lectin (1);Ricin B lectin (3);	0.162064	0.56097	D	0.000028	T	0.39226	0.1070	L	0.31294	0.92	0.80722	D	1	B	0.18461	0.028	B	0.19666	0.026	T	0.22277	-1.0221	10	0.54805	T	0.06	.	15.3485	0.74363	0.14:0.86:0.0:0.0	.	600	Q8N1P7	AIM1L_HUMAN	C	771;600	ENSP00000433931:W771C;ENSP00000310435:W600C	ENSP00000310435:W600C	W	-	3	0	AIM1L	26521097	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.565000	0.60836	2.479000	0.83701	0.561000	0.74099	TGG	AIM1L	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000176092		0.582	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		-	0	61	0	C	NM_001039775.2		26648510	-1	tier1	-	no_errors	ENST00000527815	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	A	A	26648510	C	A	26648510	3	1	58	1	0	0	0	0	1	0	0	0	431	624	22	3	54	3	AIM1L	1	26648510	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	981486	26648510	222602111	52	14435											
ARID1A	8289	genome.wustl.edu	37	chr1	27099461	27099462	+	Frame_Shift_Ins	INS	-	-	TG																															gagccaaataaggatccttaINStggcagcatgaggaaaggtg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27099461_27099462insTG	ENST00000324856.7	+	14	4069_4070	c.3698_3699insTG	c.(3697-3702)tatggcfs	p.G1234fs	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1234fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G851fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1234					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGGATCCTTATGGCAGCATGA	0.485			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3699_3700dupTG	1.37:g.27099462_27099463dupTG	ENSP00000320485:p.Gly1234fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G1234fs	ENST00000324856.7	37	c.3698_3699	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.485	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	27	0	-	NM_139135		27099462	1	tier1		no_errors	ENST00000324856	ensembl	human	known	74_37	frame_shift_ins	35.14	24	13	INS	1.000:1.000	TG	TG	27099462	-	TG	27099461	7	5	58	1	0	1	1	0	0	0	0	0	913	449	16	0	3752	0	ARID1A	1	27099461	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	450951	27099461	222151160	53	14436											
WDTC1	23038	genome.wustl.edu	37	chr1	27622891	27622891	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaaatgccactcctcgggGggtaagttctcccttagggt	9	10	12	10	1	1	1	0	0	1	1	4	1	2	1	3	4	1	2	3	4	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27622891G>T	ENST00000319394.3	+	10	1483	c.948G>T	c.(946-948)ggG>ggT	p.G316G	WDTC1_ENST00000361771.3_Splice_Site_p.G316G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	316					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ACTCCTCGGGGGGTAAGTTCT	0.517																																																	0													133	133	133					1																	27622891		2203	4300	6503	SO:0001630	splice_region_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"DDB1 and CUL4 associated factors", "WD repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29175	protein-coding gene	gene with protein product	"adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9"					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.949+1G>T	1.37:g.27622891G>T			D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G316	ENST00000319394.3	37	c.948		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.517	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		-	0	53	0	G	NM_015023	Silent	27622891	1	tier1	-	no_errors	ENST00000319394	ensembl	human	known	74_37	silent	6.85	68	5	SNP	1.000	T	T	27622891	G	T	27622891	5	4	58	1	0	0	0	0	0	0	1	0	17391	1246	43	3	982	3	WDTC1	1	27622891	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	523430	27622891	221627730	54	14437											
SYTL1	84958	genome.wustl.edu	37	chr1	27677345	27677345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgtctgtgtggcaccgcGaaagcctgggtcgcaacatc	7	8	13	13	3	1	0	0	0	1	0	3	1	1	0	3	2	2	2	3	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27677345G>A	ENST00000543823.1	+	10	1528	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.E344K			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	356	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCACCGCGAAAGCCTGGG	0.652																																																	0													69	61	63					1																	27677345		2203	4300	6503	SO:0001583	missense	0			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1066G>A	1.37:g.27677345G>A	ENSP00000440704:p.Glu356Lys		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.E356K	ENST00000543823.1	37	c.1066	CCDS53286.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.759475	0.96898	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08102	3.13;3.13	4.49	4.49	0.54785	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.110120	0.64402	D	0.000010	T	0.18425	0.0442	L	0.31207	0.915	0.58432	D	0.999994	D;D	0.71674	0.998;0.997	D;D	0.70935	0.971;0.942	T	0.01781	-1.1275	10	0.72032	D	0.01	-14.1663	16.1755	0.81847	0.0:0.0:1.0:0.0	.	356;344	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	K	344;356;109	ENSP00000316464:E344K;ENSP00000440704:E356K	ENSP00000316464:E344K	E	+	1	0	SYTL1	27549932	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.581000	0.82535	2.337000	0.79520	0.456000	0.33151	GAA	SYTL1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000142765		0.652	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		-	0	41	0	G	NM_032872		27677345	1	tier1	-	no_errors	ENST00000543823	ensembl	human	known	74_37	missense	45.45	24	20	SNP	1.000	A	A	27677345	G	A	27677345	3	1	58	1	0	0	0	0	1	0	0	0	15529	1059	37	1	1068	1	SYTL1	1	27677345	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	54454	27677345	221573276	55	14438											
MAP3K6	9064	genome.wustl.edu	37	chr1	27684951	27684951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggagctggggctgcggCtccttttcccaggctgcagg	3	9	18	11	1	0	0	0	0	0	0	2	1	2	1	2	7	3	5	2	7	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27684951C>T	ENST00000493901.1	-	21	2974	c.2735G>A	c.(2734-2736)aGc>aAc	p.S912N	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S904N|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S912N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	912					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGCTGCGGCTCCTTTTCCC	0.672																																																	0													27	34	31					1																	27684951		2190	4282	6472	SO:0001583	missense	0			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2735G>A	1.37:g.27684951C>T	ENSP00000419591:p.Ser912Asn		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S912N	ENST00000493901.1	37	c.2735	CCDS299.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.705774|2.705774	0.48412|0.48412	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000472410|ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.|T;T;T	.|0.24908	.|1.83;1.83;1.83	4.56|4.56	3.6|3.6	0.41247|0.41247	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.20740|0.20740	0.0499|0.0499	N|N	0.24115|0.24115	0.695|0.695	0.30533|0.30533	N|N	0.767247|0.767247	.|P;P	.|0.44816	.|0.844;0.759	.|P;B	.|0.46825	.|0.528;0.328	T|T	0.01670|0.01670	-1.1299|-1.1299	5|9	.|0.19147	.|T	.|0.46	.|.	10.2323|10.2323	0.43262|0.43262	0.0:0.7154:0.2846:0.0|0.0:0.7154:0.2846:0.0	.|.	.|904;912	.|O95382-3;O95382	.|.;M3K6_HUMAN	T|N	636|904;912;635;912	.|ENSP00000363152:S904N;ENSP00000419591:S912N;ENSP00000350195:S912N	.|ENSP00000350195:S912N	A|S	-|-	1|2	0|0	MAP3K6|MAP3K6	27557538|27557538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	1.641000|1.641000	0.37197|0.37197	2.379000|2.379000	0.81126|0.81126	0.655000|0.655000	0.94253|0.94253	GCC|AGC	MAP3K6	-	superfamily_Kinase-like_dom	ENSG00000142733		0.672	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	-	0	40	0	C	NM_004672		27684951	-1	tier1	-	no_errors	ENST00000357582	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	T	T	27684951	C	T	27684951	3	4	58	1	0	0	0	0	1	0	0	0	9292	797	28	3	1171	3	MAP3K6	1	27684951	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	7606	27684951	221565670	56	14439											
WASF2	10163	genome.wustl.edu	37	chr1	27742509	27742509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctctttcatgatatcCttggtgtcctgcagcatctt	5	18	6	12	0	4	1	1	1	3	0	7	1	6	1	2	1	2	2	2	1	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27742509C>A	ENST00000430629.2	-	5	722	c.507G>T	c.(505-507)aaG>aaT	p.K169N	WASF2_ENST00000536657.1_Missense_Mutation_p.K169N	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	169					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCATGATATCCTTGGTGTCCT	0.468																																																	0													265	215	232					1																	27742509		2203	4300	6503	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.507G>T	1.37:g.27742509C>A	ENSP00000396211:p.Lys169Asn		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.K169N	ENST00000430629.2	37	c.507	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398782	0.62177	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.67865	-0.29;0.88	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.922	T	0.80027	-0.1554	10	0.87932	D	0	-13.0314	18.7626	0.91858	0.0:1.0:0.0:0.0	.	169;169	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	N	169	ENSP00000396211:K169N;ENSP00000439883:K169N	ENSP00000396211:K169N	K	-	3	2	WASF2	27615096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.970000	0.49240	2.530000	0.85305	0.563000	0.77884	AAG	WASF2	-	NULL	ENSG00000158195		0.468	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	-	0	97	0	C	NM_006990		27742509	-1	tier1	-	no_errors	ENST00000430629	ensembl	human	known	74_37	missense	34.03	95	49	SNP	1.000	A	A	27742509	C	A	27742509	3	1	58	1	0	0	0	0	1	0	0	0	17302	680	24	3	1009	3	WASF2	1	27742509	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	57558	27742509	221508112	57	14440											
C1orf38	9473	genome.wustl.edu	37	chr1	28208867	28208867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaggtgctttccagccaggCcggccactccgggtggtggc	4	8	15	14	2	0	0	0	0	0	0	2	0	2	0	5	6	2	1	5	6	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:28208867C>T	ENST00000373921.3	+	4	1036	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	344	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCAGCCAGGCCGGCCACTCC	0.667																																																	0													22	27	26					1																	28208867		1961	4155	6116	SO:0001819	synonymous_variant	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"induced by contact to basement membrane 1"		"chromosome 1 open reading frame 38"	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1032C>T	1.37:g.28208867C>T			A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	NULL	p.G344	ENST00000373921.3	37	c.1032	CCDS41290.1	1																																																																																			THEMIS2	-	NULL	ENSG00000130775		0.667	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	-	0	89	0	C	NM_004848		28208867	1	tier1	-	no_errors	ENST00000373921	ensembl	human	known	74_37	silent	37.21	54	32	SNP	0.509	T	T	28208867	C	T	28208867	2	4	58	1	0	0	0	0	0	0	0	1	2046	726	26	3		3	C1orf38	1	28208867	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	466358	28208867	221041754	58	14441											
TMEM200B	399474	genome.wustl.edu	37	chr1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtccagccgtggccagcttCggtgagcacagtcccgagct	6	7	14	14	3	0	1	0	1	0	0	3	2	2	1	4	3	4	3	4	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	281						integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642																																																	0													21	23	22					1																	29447499		2203	4300	6503	SO:0001583	missense	0				CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.842G>A	1.37:g.29447499C>T	ENSP00000428544:p.Arg281Gln		Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.R281Q	ENST00000420504.2	37	c.842	CCDS30658.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916115	0.92178	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	4.26	0.50523	.	0.000000	0.36234	U	0.002718	T	0.54175	0.1842	N	0.19112	0.55	0.35186	D	0.772954	D	0.76494	0.999	P	0.61132	0.884	T	0.68025	-0.5518	9	0.87932	D	0	.	14.3489	0.66685	0.0:1.0:0.0:0.0	.	281	Q69YZ2	T200B_HUMAN	Q	281	.	ENSP00000428544:R281Q	R	-	2	0	TMEM200B	29320086	0.819000	0.29175	1.000000	0.80357	0.989000	0.77384	1.248000	0.32827	2.348000	0.79779	0.655000	0.94253	CGA	TMEM200B	-	NULL	ENSG00000253304		0.642	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM200B	HGNC	protein_coding	OTTHUMT00000010377.2	-	0	42	0	C	NM_001003682		29447499	-1	tier1	-	no_errors	ENST00000420504	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	T	T	29447499	C	T	29447499	3	4	58	1	0	0	0	0	1	0	0	0	16171	884	31	1	85	1	TMEM200B	1	29447499	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1238632	29447499	219803122	59	14442											
PTPRU	10076	genome.wustl.edu	37	chr1	29586017	29586017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaacgcgggccagaacGcgtcgttccagtgcatggcc	8	6	14	13	5	1	1	1	0	0	1	3	1	2	1	3	3	3	2	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:29586017G>A	ENST00000345512.3	+	5	745	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	PTPRU_ENST00000428026.2_Missense_Mutation_p.A206T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A206T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A206T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A206T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A206T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	206	Ig-like C2-type.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGCCAGAACGCGTCGTTCCA	0.692																																																	0													23	26	25					1																	29586017		2201	4298	6499	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.616G>A	1.37:g.29586017G>A	ENSP00000334941:p.Ala206Thr		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A206T	ENST00000345512.3	37	c.616	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780484	0.90195	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	4.61	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.076918	0.51477	U	0.000087	T	0.41994	0.1183	M	0.80183	2.485	0.52501	D	0.999951	B;D;B;B;B	0.62365	0.141;0.991;0.141;0.256;0.087	B;P;B;B;B	0.49528	0.034;0.614;0.034;0.015;0.015	T	0.49854	-0.8895	9	.	.	.	.	16.4888	0.84193	0.0:0.0:1.0:0.0	.	206;206;206;206;206	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	206	ENSP00000334941:A206T;ENSP00000362884:A206T;ENSP00000349333:A206T;ENSP00000314987:A206T;ENSP00000392332:A206T;ENSP00000432906:A206T	.	A	+	1	0	PTPRU	29458604	1.000000	0.71417	0.957000	0.39632	0.980000	0.70556	9.808000	0.99193	2.123000	0.65237	0.456000	0.33151	GCG	PTPRU	-	NULL	ENSG00000060656		0.692	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0	40	0	G			29586017	1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	A	A	29586017	G	A	29586017	3	1	58	1	0	0	0	0	1	0	0	0	12858	1087	38	1	634	1	PTPRU	1	29586017	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	138518	29586017	219664604	60	14443											
BAI2	576	genome.wustl.edu	37	chr1	32201935	32201935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtactagctggatgtacCgtatcctttcgttcgggtaa	8	13	10	10	4	0	0	0	0	0	0	3	1	1	1	2	2	3	6	2	2	5	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:32201935C>T	ENST00000373658.3	-	22	3528	c.3187G>A	c.(3187-3189)Ggt>Agt	p.G1063S	BAI2_ENST00000398538.1_Missense_Mutation_p.G1051S|BAI2_ENST00000527361.1_Missense_Mutation_p.G1063S|BAI2_ENST00000398556.3_Missense_Mutation_p.G1011S|BAI2_ENST00000440175.2_Missense_Mutation_p.G705S|BAI2_ENST00000373655.2_Missense_Mutation_p.G1063S|BAI2_ENST00000257070.4_Missense_Mutation_p.G1063S|BAI2_ENST00000398542.1_Missense_Mutation_p.G996S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.G996S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1063					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1063C(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGGATGTACCGTATCCTTTC	0.597																																																	1	Substitution - Missense(1)	lung(1)											205	183	191					1																	32201935		2203	4300	6503	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3187G>A	1.37:g.32201935C>T	ENSP00000362762:p.Gly1063Ser		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1063S	ENST00000373658.3	37	c.3187	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129927	0.77549	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.68	4.68	0.58851	GPCR, family 2-like (1);	0.000000	0.43919	D	0.000515	T	0.62901	0.2466	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.953;0.954;1.0;0.972	T	0.61749	-0.6999	10	0.35671	T	0.21	.	17.5817	0.87970	0.0:1.0:0.0:0.0	.	1063;1051;705;1063;1063	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	S	1011;996;1063;1063;996;1063;1063;705;1051	ENSP00000381564:G1011S;ENSP00000381555:G996S;ENSP00000362762:G1063S;ENSP00000362759:G1063S;ENSP00000381550:G996S;ENSP00000257070:G1063S;ENSP00000435397:G1063S;ENSP00000391071:G705S;ENSP00000381548:G1051S	ENSP00000257070:G1063S	G	-	1	0	BAI2	31974522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.841000	0.69409	2.318000	0.78349	0.462000	0.41574	GGT	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib	ENSG00000121753		0.597	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	65	0	C	NM_001703		32201935	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	62.00	18	31	SNP	1.000	T	T	32201935	C	T	32201935	3	4	58	1	0	0	0	0	1	0	0	0	1300	652	23	1	1618	1	BAI2	1	32201935	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2615918	32201935	217048686	61	14444											
BAI2	576	genome.wustl.edu	37	chr1	32221807	32221807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaggccctgccggcagCgcggccacactcctcactcc	5	4	11	21	4	1	0	1	0	0	0	3	0	3	0	6	3	2	2	6	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:32221807C>T	ENST00000373658.3	-	4	972	c.631G>A	c.(631-633)Gct>Act	p.A211T	BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000257070.4_Missense_Mutation_p.A211T|BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000398547.1_Missense_Mutation_p.A199T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	211					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A211T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCCGGCAGCGCGGCCACAC	0.647																																																	1	Substitution - Missense(1)	prostate(1)											25	31	29					1																	32221807		2199	4298	6497	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.631G>A	1.37:g.32221807C>T	ENSP00000362762:p.Ala211Thr		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A211T	ENST00000373658.3	37	c.631	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867277	0.32977	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.41400	1.67;1.86;1.05;1.05;2.02;1.0;1.0;1.06;1.64;1.49	5.2	1.99	0.26369	.	0.168757	0.28641	N	0.014640	T	0.26122	0.0637	N	0.12182	0.205	0.09310	N	0.999999	P;D;D;P;D;D	0.63046	0.918;0.961;0.992;0.924;0.961;0.987	B;B;P;B;B;P	0.52189	0.109;0.387;0.692;0.147;0.409;0.496	T	0.12041	-1.0563	10	0.12766	T	0.61	.	4.5381	0.12043	0.2666:0.5245:0.1302:0.0787	.	199;211;199;199;211;211	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	T	214;199;211;211;199;211;211;199;204;245	ENSP00000381564:A214T;ENSP00000381555:A199T;ENSP00000362762:A211T;ENSP00000362759:A211T;ENSP00000381550:A199T;ENSP00000257070:A211T;ENSP00000435397:A211T;ENSP00000381548:A199T;ENSP00000410921:A204T;ENSP00000437219:A245T	ENSP00000257070:A211T	A	-	1	0	BAI2	31994394	0.000000	0.05858	0.162000	0.22713	0.969000	0.65631	-0.199000	0.09491	0.649000	0.30751	0.462000	0.41574	GCT	BAI2	-	NULL	ENSG00000121753		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	21	0	C	NM_001703		32221807	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.100	T	T	32221807	C	T	32221807	3	4	58	1	0	0	0	0	1	0	0	0	1300	768	27	1	4246	1	BAI2	1	32221807	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	19872	32221807	217028814	62	14445											
CSMD2	114784	genome.wustl.edu	37	chr1	34011768	34011768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaaagctgtcccccaaaCggatgccatgagccgggatc	11	6	11	13	2	1	1	1	1	0	0	3	4	2	3	4	2	4	1	4	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:34011768C>T	ENST00000373381.4	-	57	9145	c.8969G>A	c.(8968-8970)cGt>cAt	p.R2990H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2963	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2846H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCCCAAACGGATGCCATG	0.567																																																	1	Substitution - Missense(1)	prostate(1)											59	53	55					1																	34011768		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8969G>A	1.37:g.34011768C>T	ENSP00000362479:p.Arg2990His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2990H	ENST00000373381.4	37	c.8969		1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056281	0.76074	.	.	ENSG00000121904	ENST00000373381	T	0.64803	-0.12	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.061352	0.64402	D	0.000003	T	0.67664	0.2917	M	0.69523	2.12	0.80722	D	1	P;B	0.46457	0.878;0.139	P;B	0.46339	0.513;0.072	T	0.68685	-0.5343	10	0.36615	T	0.2	.	17.4042	0.87469	0.0:1.0:0.0:0.0	.	2846;2990	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	2990	ENSP00000362479:R2990H	ENSP00000241312:R2846H	R	-	2	0	CSMD2	33784355	1.000000	0.71417	0.951000	0.38953	0.596000	0.36781	7.629000	0.83207	2.591000	0.87537	0.650000	0.86243	CGT	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	33	0	C	NM_052896		34011768	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	T	T	34011768	C	T	34011768	3	4	58	1	0	0	0	0	1	0	0	0	3954	536	19	1	1982	1	CSMD2	1	34011768	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1789961	34011768	215238853	63	14446											
CSMD2	114784	genome.wustl.edu	37	chr1	34190222	34190222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgaaggtcaccagcgCgcccacgtagaagtcattcc	11	6	10	14	3	2	2	2	1	0	1	3	2	3	2	3	1	2	2	3	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:34190222C>T	ENST00000373381.4	-	18	2955	c.2779G>A	c.(2779-2781)Gcg>Acg	p.A927T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	887	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A887S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCACCAGCGCGCCCACGTAG	0.567																																																	1	Substitution - Missense(1)	lung(1)											82	77	79					1																	34190222		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2779G>A	1.37:g.34190222C>T	ENSP00000362479:p.Ala927Thr		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A927T	ENST00000373381.4	37	c.2779		1	.	.	.	.	.	.	.	.	.	.	C	36	5.709539	0.96821	.	.	ENSG00000121904	ENST00000373381	T	0.65364	-0.15	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	N	0.11131	0.1	0.80722	D	1	D;D	0.61697	0.99;0.981	P;P	0.61132	0.884;0.657	T	0.65549	-0.6141	10	0.40728	T	0.16	.	18.9071	0.92467	0.0:1.0:0.0:0.0	.	887;927	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	927	ENSP00000362479:A927T	ENSP00000241312:A887T	A	-	1	0	CSMD2	33962809	1.000000	0.71417	0.805000	0.32314	0.844000	0.47949	6.082000	0.71318	2.707000	0.92482	0.655000	0.94253	GCG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	54	0	C	NM_052896		34190222	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	T	T	34190222	C	T	34190222	3	4	58	1	0	0	0	0	1	0	0	0	3954	768	27	1	8012	1	CSMD2	1	34190222	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	178454	34190222	215060399	64	14447											
ZMYM6	9204	genome.wustl.edu	37	chr1	35485090	35485090	+	Frame_Shift_Del	DEL	T	T	-																															agtttggcccttataaagcaTttttttacaaccagaacaaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:35485090delT	ENST00000357182.4	-	4	519	c.292delA	c.(292-294)atgfs	p.M98fs	ZMYM6_ENST00000487874.1_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000317538.5_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000373340.2_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000373333.1_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	98					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTATAAAGCATTTTTTTACAA	0.453																																																	0													123	115	118					1																	35485090		2203	4300	6503	SO:0001589	frameshift_variant	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.292delA	1.37:g.35485090delT	ENSP00000349708:p.Met98fs		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Frame_Shift_Del	DEL	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.M98fs	ENST00000357182.4	37	c.292	CCDS387.2	1																																																																																			ZMYM6	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000163867		0.453	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1		0	53	0	T	NM_007167		35485090	-1	tier1		no_errors	ENST00000357182	ensembl	human	known	74_37	frame_shift_del	40.00	36	24	DEL	1.000	-	-	35485090	T	-	35485090	7	5	58	1	0	1	0	1	0	0	0	0	17752	1493	52	0	3737	0	ZMYM6	1	35485090	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	1294868	35485090	213765531	65	14448											
CSF3R	1441	genome.wustl.edu	37	chr1	36938156	36938156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacgctgcggcttgtggcGcagctcacacttctgattta	6	12	10	13	3	2	1	1	1	1	0	3	1	3	1	1	2	2	4	1	2	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:36938156G>A	ENST00000373106.1	-	7	1352	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	CSF3R_ENST00000331941.5_Missense_Mutation_p.R269C|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000440588.2_Missense_Mutation_p.R269C|CSF3R_ENST00000418048.2_Missense_Mutation_p.R269C|CSF3R_ENST00000361632.4_Missense_Mutation_p.R269C|CSF3R_ENST00000373104.1_Missense_Mutation_p.R269C|CSF3R_ENST00000373103.1_Missense_Mutation_p.R269C|CSF3R_ENST00000338937.5_Missense_Mutation_p.R269C	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	269	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R269C(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGCTTGTGGCGCAGCTCACAC	0.672																																																	2	Substitution - Missense(2)	large_intestine(2)											35	36	35					1																	36938156		2195	4287	6482	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.805C>T	1.37:g.36938156G>A	ENSP00000362198:p.Arg269Cys			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R269C	ENST00000373106.1	37	c.805	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047820	0.55110	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	4.88	4.88	0.63580	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.555420	0.19006	N	0.125202	T	0.74581	0.3735	M	0.81802	2.56	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.997;1.0	T	0.78132	-0.2323	10	0.87932	D	0	-26.8968	16.7622	0.85515	0.0:0.0:1.0:0.0	.	269;269;269;269	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	C	269	ENSP00000362198:R269C;ENSP00000362196:R269C;ENSP00000362195:R269C;ENSP00000355406:R269C;ENSP00000332180:R269C;ENSP00000401588:R269C;ENSP00000345013:R269C;ENSP00000397568:R269C	ENSP00000332180:R269C	R	-	1	0	CSF3R	36710743	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	5.876000	0.69667	2.531000	0.85337	0.655000	0.94253	CGC	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000119535		0.672	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0	78	0	G	NM_156039		36938156	-1	tier1	-	no_errors	ENST00000373103	ensembl	human	known	74_37	missense	39.66	35	23	SNP	1.000	A	A	36938156	G	A	36938156	3	1	58	1	0	0	0	0	1	0	0	0	3946	1087	38	1	1939	1	CSF3R	1	36938156	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1453066	36938156	212312465	66	14449											
GRIK3	2899	genome.wustl.edu	37	chr1	37316015	37316015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccgtcggcaggactcCacaccccaacctggatggac	9	5	11	16	2	0	1	0	1	0	0	2	4	1	4	5	4	2	1	5	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37316015C>A	ENST00000373091.3	-	9	1239	c.1223G>T	c.(1222-1224)tGg>tTg	p.W408L	GRIK3_ENST00000373093.4_Missense_Mutation_p.W408L|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	408					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGCAGGACTCCACACCCCAAC	0.532																																																	0													95	88	90					1																	37316015		2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1223G>T	1.37:g.37316015C>A	ENSP00000362183:p.Trp408Leu		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W408L	ENST00000373091.3	37	c.1223	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743854	0.89663	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.32515	1.45;1.45	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	H	0.95187	3.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.79512	-0.1773	10	0.87932	D	0	.	19.0516	0.93049	0.0:1.0:0.0:0.0	.	408;408	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	408	ENSP00000362183:W408L;ENSP00000362185:W408L	ENSP00000362183:W408L	W	-	2	0	GRIK3	37088602	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.487000	0.81328	2.501000	0.84356	0.555000	0.69702	TGG	GRIK3	-	superfamily_Peripla_BP_I	ENSG00000163873		0.532	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	76	0	C	NM_000831		37316015	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	40.00	29	20	SNP	1.000	A	A	37316015	C	A	37316015	3	1	58	1	0	0	0	0	1	0	0	0	6802	595	21	3	1568	3	GRIK3	1	37316015	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	377859	37316015	211934606	67	14450											
GRIK3	2899	genome.wustl.edu	37	chr1	37319265	37319265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtccagatcaaaatccGtccgcaagccactagttttg	11	11	8	11	2	1	2	1	1	0	1	4	2	4	2	4	0	1	2	4	0	4	3	rs142974275	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37319265G>A	ENST00000373091.3	-	8	1179	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T388M|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	388					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ATCAAAATCCGTCCGCAAGCC	0.547																																																	0								G	MET/THR	0,4406		0,0,2203	74	72	72		1163	4.2	0.8	1	dbSNP_134	72	3,8597	2.2+/-6.3	0,3,4297	yes	missense	GRIK3	NM_000831.3	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	388/920	37319265	3,13003	2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1163C>T	1.37:g.37319265G>A	ENSP00000362183:p.Thr388Met		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T388M	ENST00000373091.3	37	c.1163	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344884	0.61073	0.0	3.49E-4	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83075	-1.68;-1.68	5.13	4.22	0.49857	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.59436	1.845	0.46701	D	0.999167	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.917	D	0.88401	0.3015	10	0.56958	D	0.05	.	13.872	0.63624	0.0741:0.0:0.9259:0.0	.	388;388	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	388	ENSP00000362183:T388M;ENSP00000362185:T388M	ENSP00000362183:T388M	T	-	2	0	GRIK3	37091852	1.000000	0.71417	0.790000	0.31976	0.980000	0.70556	5.425000	0.66470	1.162000	0.42619	0.563000	0.77884	ACG	GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.547	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	62	0	G	NM_000831		37319265	-1	tier1	rs142974275	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.989	A	A	37319265	G	A	37319265	3	1	58	1	0	0	0	0	1	0	0	0	6802	1145	40	1	1632	1	GRIK3	1	37319265	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3250	37319265	211931356	68	14451											
GRIK3	2899	genome.wustl.edu	37	chr1	37324816	37324816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggtagcacacggacaCgatatggacggcgtcgtaca	10	6	13	12	6	0	0	0	0	0	0	1	3	0	2	1	4	2	4	1	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37324816C>T	ENST00000373091.3	-	7	1013	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	GRIK3_ENST00000373093.4_Missense_Mutation_p.V333M|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	333					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.V333L(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CACACGGACACGATATGGACG	0.632																																																	1	Substitution - Missense(1)	lung(1)											140	120	127					1																	37324816		2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.997G>A	1.37:g.37324816C>T	ENSP00000362183:p.Val333Met		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V333M	ENST00000373091.3	37	c.997	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.091422	0.94149	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.82619	-1.63;-1.63	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.955	D	0.86724	0.1944	10	0.22109	T	0.4	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	333;333	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	333	ENSP00000362183:V333M;ENSP00000362185:V333M	ENSP00000362183:V333M	V	-	1	0	GRIK3	37097403	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.482000	0.81143	2.671000	0.90904	0.650000	0.86243	GTG	GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.632	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1		0	31	0	C	NM_000831		37324816	-1			no_errors	ENST00000373091	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	37324816	C	T	37324816	3	4	58	1	0	0	0	0	1	0	0	0	6802	536	19	1	1802	1	GRIK3	1	37324816	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5551	37324816	211925805	69	14452											
MEAF6	64769	genome.wustl.edu	37	chr1	37967411	37967411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgccactgacctgtgcCggtttttattctttcgcttt	3	18	7	13	2	1	1	0	1	1	0	3	1	2	1	4	1	2	2	4	1	1	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37967411C>T	ENST00000296214.5	-	5	554	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	MEAF6_ENST00000373075.2_Missense_Mutation_p.R176Q|MEAF6_ENST00000373073.4_Missense_Mutation_p.R176Q|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000448519.2_Missense_Mutation_p.R176Q|MIR5581_ENST00000580821.1_RNA|MEAF6_ENST00000373074.1_Missense_Mutation_p.R154Q	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	176					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGACCTGTGCCGGTTTTTATT	0.507																																																	0													118	139	132					1																	37967411		2203	4300	6503	SO:0001583	missense	0			BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"Esa1p-associated factor 6 homolog (S. cerevisiae)", "centromere protein 28"	611001	"chromosome 1 open reading frame 149"	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.527G>A	1.37:g.37967411C>T	ENSP00000296214:p.Arg176Gln		B1AK64|Q4F967|Q7Z311|Q86WE3	Missense_Mutation	SNP	pfam_Hist_AcTrfase_NuA4_cplx	p.R176Q	ENST00000296214.5	37	c.527	CCDS59196.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.751451	0.96890	.	.	ENSG00000163875	ENST00000373075;ENST00000296214;ENST00000373074;ENST00000373073;ENST00000448519	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.997;0.994	D;D;D;P	0.69479	0.964;0.921;0.964;0.885	T	0.66701	-0.5857	9	0.51188	T	0.08	1.3772	19.9433	0.97172	0.0:1.0:0.0:0.0	.	176;176;176;154	Q9HAF1-2;Q9HAF1;Q9HAF1-3;B1AK63	.;EAF6_HUMAN;.;.	Q	176;176;154;176;176	.	ENSP00000296214:R176Q	R	-	2	0	MEAF6	37739998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	2.716000	0.92895	0.655000	0.94253	CGG	MEAF6	-	NULL	ENSG00000163875		0.507	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEAF6	HGNC	protein_coding	OTTHUMT00000012161.1	-	0	89	0	C	NM_022756		37967411	-1	tier1	-	no_errors	ENST00000373075	ensembl	human	known	74_37	missense	38.26	70	44	SNP	1.000	T	T	37967411	C	T	37967411	3	4	58	1	0	0	0	0	1	0	0	0	9459	652	23	1	94	1	MEAF6	1	37967411	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	642595	37967411	211283210	70	14453											
EPHA10	284656	genome.wustl.edu	37	chr1	38219906	38219906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgcaggaagccgagggCgggtcggtgggtgagcgcgc	5	4	23	9	6	0	1	0	1	0	0	1	3	0	2	1	6	3	1	1	6	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:38219906C>T	ENST00000373048.4	-	4	986	c.987G>A	c.(985-987)ccG>ccA	p.P329P	EPHA10_ENST00000446149.2_Intron|EPHA10_ENST00000427468.2_Silent_p.P329P|EPHA10_ENST00000540011.1_5'Flank|EPHA10_ENST00000330210.7_Intron	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	329					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGCCGAGGGCGGGTCGGTGG	0.692																																																	0													18	25	23					1																	38219906		1961	4091	6052	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.987G>A	1.37:g.38219906C>T			A4FU89|J3KPB5|Q6NW42	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P329	ENST00000373048.4	37	c.987	CCDS41305.1	1																																																																																			EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000183317		0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0	176	0	C	NM_173641		38219906	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	silent	41.23	67	47	SNP	0.978	T	T	38219906	C	T	38219906	2	4	58	1	0	0	0	0	0	0	0	1	5182	755	27	1		1	EPHA10	1	38219906	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	252495	38219906	211030715	71	14454											
INPP5B	3633	genome.wustl.edu	37	chr1	38355359	38355359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgtgatagtggaggagcGaaccatgtcagtaatttcgg	11	10	13	7	2	1	1	1	1	0	0	2	4	1	3	1	3	2	1	1	3	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:38355359G>A	ENST00000373026.1	-	8	907	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	INPP5B_ENST00000373027.1_Missense_Mutation_p.R59C|INPP5B_ENST00000458109.2_5'Flank|INPP5B_ENST00000467066.1_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.R223C|INPP5B_ENST00000373023.2_Missense_Mutation_p.R303C			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	303					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGGAGGAGCGAACCATGTCA	0.388																																																	0													155	143	147					1																	38355359		1844	4093	5937	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.907C>T	1.37:g.38355359G>A	ENSP00000362117:p.Arg303Cys		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R303C	ENST00000373026.1	37	c.907		1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135758	0.77662	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93906	-3.31;-3.18;-3.18;-3.15	5.76	5.76	0.90799	.	0.530995	0.20098	N	0.099296	D	0.96100	0.8729	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.999	P;D	0.65443	0.863;0.935	D	0.96063	0.9040	10	0.87932	D	0	.	14.76	0.69600	0.0:0.0:0.8555:0.1445	.	303;223	P32019;P32019-2	I5P2_HUMAN;.	C	59;303;303;303;223	ENSP00000362118:R59C;ENSP00000362114:R303C;ENSP00000362117:R303C;ENSP00000362115:R223C	ENSP00000362114:R303C	R	-	1	0	INPP5B	38127946	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	6.140000	0.71738	2.721000	0.93114	0.655000	0.94253	CGC	INPP5B	-	NULL	ENSG00000204084		0.388	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	-	0	48	0	G	NM_005540		38355359	-1	tier1	-	no_errors	ENST00000373023	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	A	A	38355359	G	A	38355359	3	1	58	1	0	0	0	0	1	0	0	0	7782	1058	37	1	2138	1	INPP5B	1	38355359	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	135453	38355359	210895262	72	14455											
HPCAL4	51440	genome.wustl.edu	37	chr1	40148347	40148347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacacgctgctggggcGtgagcccgtcctggttcatg	4	10	14	13	3	1	1	1	1	0	0	3	1	3	1	3	3	2	3	3	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:40148347G>A	ENST00000372844.3	-	4	828	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	146	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCTGGGGCGTGAGCCCGTC	0.557																																																	0													129	111	117					1																	40148347		2203	4300	6503	SO:0001583	missense	0			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.437C>T	1.37:g.40148347G>A	ENSP00000361935:p.Thr146Met		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.T146M	ENST00000372844.3	37	c.437	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656759	0.88154	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.71934	-0.61	4.77	4.77	0.60923	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.97110	1.0;0.737	D	0.86811	0.1998	10	0.87932	D	0	.	18.684	0.91557	0.0:0.0:1.0:0.0	.	74;146	B4DGW9;Q9UM19	.;HPCL4_HUMAN	M	146;138	ENSP00000361935:T146M	ENSP00000361935:T146M	T	-	2	0	HPCAL4	39920934	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	9.656000	0.98514	2.595000	0.87683	0.462000	0.41574	ACG	HPCAL4	-	pfscan_EF_hand_dom,prints_Recoverin	ENSG00000116983		0.557	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	-	0	45	0	G	NM_016257		40148347	-1	tier1	-	no_errors	ENST00000372844	ensembl	human	known	74_37	missense	43.90	23	18	SNP	1.000	A	A	40148347	G	A	40148347	3	1	58	1	0	0	0	0	1	0	0	0	7358	1145	40	1	142	1	HPCAL4	1	40148347	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1792988	40148347	209102274	73	14456											
HPCAL4	51440	genome.wustl.edu	37	chr1	40150207	40150207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgcttcagctcctgctcGctgaactcagtgttctgaac	7	12	8	14	1	3	2	2	2	1	0	5	2	4	2	1	0	5	5	1	0	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:40150207G>T	ENST00000372844.3	-	2	460	c.69C>A	c.(67-69)agC>agA	p.S23R		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	23					central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCTCCTGCTCGCTGAACTCAG	0.607																																																	0													73	62	66					1																	40150207		2203	4300	6503	SO:0001583	missense	0			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"EF-hand domain containing"	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.69C>A	1.37:g.40150207G>T	ENSP00000361935:p.Ser23Arg		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.S23R	ENST00000372844.3	37	c.69	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546841	0.45383	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.21932	1.98	4.4	2.46	0.29980	EF-hand-like domain (1);	0.048975	0.85682	D	0.000000	T	0.23572	0.0570	M	0.73430	2.235	0.50171	D	0.999851	B;P	0.41710	0.069;0.76	B;B	0.39935	0.025;0.314	T	0.03060	-1.1077	10	0.87932	D	0	.	7.4637	0.27310	0.361:0.0:0.639:0.0	.	23;23	B4DGW9;Q9UM19	.;HPCL4_HUMAN	R	23	ENSP00000361935:S23R	ENSP00000361935:S23R	S	-	3	2	HPCAL4	39922794	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.330000	0.19715	0.525000	0.28522	0.561000	0.74099	AGC	HPCAL4	-	prints_Recoverin	ENSG00000116983		0.607	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	-	0	72	0	G	NM_016257		40150207	-1	tier1	-	no_errors	ENST00000372844	ensembl	human	known	74_37	missense	9.84	55	6	SNP	1.000	T	T	40150207	G	T	40150207	3	4	58	1	0	0	0	0	1	0	0	0	7358	1078	38	2	518	2	HPCAL4	1	40150207	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1860	40150207	209100414	74	14457											
TMCO2	127391	genome.wustl.edu	37	chr1	40717178	40717178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctcaaaaacctgccaCgaagagggattgctcctctg	10	9	10	12	2	2	1	1	0	1	1	3	3	3	2	3	1	4	3	3	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:40717178C>T	ENST00000372766.3	+	2	554	c.461C>T	c.(460-462)aCg>aTg	p.T154M	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	154						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AAACCTGCCACGAAGAGGGAT	0.458																																																	0													68	70	69					1																	40717178		2203	4300	6503	SO:0001583	missense	0			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.461C>T	1.37:g.40717178C>T	ENSP00000361852:p.Thr154Met			Missense_Mutation	SNP	NULL	p.T154M	ENST00000372766.3	37	c.461	CCDS30684.1	1	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885186	0.02511	.	.	ENSG00000188800	ENST00000372766	.	.	.	4.25	-1.34	0.09143	.	1.121610	0.06662	N	0.764725	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.32893	0.389	B	0.18871	0.023	T	0.15809	-1.0424	9	0.34782	T	0.22	5.4686	7.8607	0.29507	0.0:0.4687:0.0:0.5313	.	154	Q7Z6W1	TMCO2_HUMAN	M	154	.	ENSP00000361852:T154M	T	+	2	0	TMCO2	40489765	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-3.497000	0.00451	-0.214000	0.10078	0.650000	0.86243	ACG	TMCO2	-	NULL	ENSG00000188800		0.458	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO2	HGNC	protein_coding	OTTHUMT00000015769.1	-	0	8	0	C	NM_001008740		40717178	1	tier1	-	no_errors	ENST00000372766	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.000	T	T	40717178	C	T	40717178	3	4	58	1	0	0	0	0	1	0	0	0	16043	536	19	1	467	1	TMCO2	1	40717178	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	566971	40717178	208533443	75	14458											
HIVEP3	59269	genome.wustl.edu	37	chr1	42046841	42046841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggatgttggctgggtgagGcatgagctgggggagatgga	7	8	23	3	0	0	3	0	2	0	1	0	6	0	5	0	8	1	4	0	8	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:42046841G>A	ENST00000372583.1	-	4	4513	c.3628C>T	c.(3628-3630)Cct>Tct	p.P1210S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1210S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1210S|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1210S|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1210					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGGGTGAGGCATGAGCTGG	0.602																																																	0													72	71	71					1																	42046841		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3628C>T	1.37:g.42046841G>A	ENSP00000361664:p.Pro1210Ser		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1210S	ENST00000372583.1	37	c.3628	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	8.034	0.762430	0.15914	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	4.87	4.87	0.63330	.	0.136591	0.34088	N	0.004278	T	0.06005	0.0156	L	0.27053	0.805	0.30782	N	0.741853	P;B	0.36110	0.537;0.402	B;B	0.35470	0.203;0.1	T	0.08911	-1.0699	10	0.36615	T	0.2	-3.8704	7.4864	0.27437	0.085:0.0:0.7478:0.1673	.	1210;1210	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1210	ENSP00000361665:P1210S;ENSP00000361664:P1210S;ENSP00000247584:P1210S;ENSP00000410828:P1210S	ENSP00000247584:P1210S	P	-	1	0	HIVEP3	41819428	0.999000	0.42202	1.000000	0.80357	0.607000	0.37147	1.024000	0.30077	2.542000	0.85734	0.467000	0.42956	CCT	HIVEP3	-	NULL	ENSG00000127124		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	55	0	G	NM_024503		42046841	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.996	A	A	42046841	G	A	42046841	3	1	58	1	0	0	0	0	1	0	0	0	7215	1203	42	3	3616	3	HIVEP3	1	42046841	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1329663	42046841	207203780	76	14459											
HIVEP3	59269	genome.wustl.edu	37	chr1	42048989	42048989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggactccatgctgctgcGcctggacagtgagctccgcc	5	8	14	14	2	0	1	0	1	0	0	2	3	2	3	4	3	4	3	4	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:42048989G>A	ENST00000372583.1	-	4	2365	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494C|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R494C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	494	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATGCTGCTGCGCCTGGACAGT	0.587																																																	0													88	87	87					1																	42048989		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1480C>T	1.37:g.42048989G>A	ENSP00000361664:p.Arg494Cys		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R494C	ENST00000372583.1	37	c.1480	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226949	0.58668	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	4.82	4.82	0.62117	.	0.122178	0.37809	N	0.001922	T	0.43211	0.1237	M	0.71206	2.165	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.40346	-0.9568	10	0.87932	D	0	0.0787	17.6825	0.88248	0.0:0.0:1.0:0.0	.	494;494	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	494	ENSP00000361665:R494C;ENSP00000361664:R494C;ENSP00000247584:R494C;ENSP00000410828:R494C	ENSP00000247584:R494C	R	-	1	0	HIVEP3	41821576	1.000000	0.71417	0.994000	0.49952	0.844000	0.47949	7.087000	0.76893	2.514000	0.84764	0.561000	0.74099	CGC	HIVEP3	-	NULL	ENSG00000127124		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	60	0	G	NM_024503		42048989	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	10.99	81	10	SNP	1.000	A	A	42048989	G	A	42048989	3	1	58	1	0	0	0	0	1	0	0	0	7215	1087	38	1	5764	1	HIVEP3	1	42048989	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2148	42048989	207201632	77	14460											
HIVEP3	59269	genome.wustl.edu	37	chr1	42049670	42049670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactcttccccagggatccGctccatctccagcccatgtg	8	9	7	17	1	2	0	0	0	2	0	6	1	5	1	6	1	2	1	6	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:42049670G>A	ENST00000372583.1	-	4	1684	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R267W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R267W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R267W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	267	Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCAGGGATCCGCTCCATCTCC	0.582																																																	0													65	61	62					1																	42049670		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.799C>T	1.37:g.42049670G>A	ENSP00000361664:p.Arg267Trp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R267W	ENST00000372583.1	37	c.799	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827757	0.32329	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07216	3.22;3.21;3.21;3.22	5.15	2.76	0.32466	.	0.000000	0.64402	D	0.000016	T	0.13970	0.0338	N	0.19112	0.55	0.33615	D	0.604043	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.11665	-1.0578	10	0.48119	T	0.1	2.2081	12.2702	0.54702	0.0:0.0:0.4896:0.5104	.	267;267	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	267	ENSP00000361665:R267W;ENSP00000361664:R267W;ENSP00000247584:R267W;ENSP00000410828:R267W	ENSP00000247584:R267W	R	-	1	2	HIVEP3	41822257	0.863000	0.29885	1.000000	0.80357	0.792000	0.44763	0.653000	0.24902	0.389000	0.25086	-0.274000	0.10170	CGG	HIVEP3	-	NULL	ENSG00000127124		0.582	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	30	0	G	NM_024503		42049670	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.992	A	A	42049670	G	A	42049670	3	1	58	1	0	0	0	0	1	0	0	0	7215	1086	38	1	6445	1	HIVEP3	1	42049670	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	681	42049670	207200951	78	14461											
TIE1	7075	genome.wustl.edu	37	chr1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-																															catgacggcgaatgtgtatgCccccctggcttcactggcac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:43772910delC	ENST00000372476.3	+	5	817	c.738delC	c.(736-738)tgcfs	p.C246fs	TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs|TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	246	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632																																																	1	Deletion - Frameshift(1)	large_intestine(1)											56	53	54					1																	43772910		2203	4300	6503	SO:0001589	frameshift_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.738delC	1.37:g.43772910delC	ENSP00000361554:p.Cys246fs		B5A949|B5A950	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P248fs	ENST00000372476.3	37	c.738	CCDS482.1	1																																																																																			TIE1	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000066056		0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1		0	79	0	C	NM_005424		43772910	1	tier1		no_errors	ENST00000372476	ensembl	human	known	74_37	frame_shift_del	42.42	38	28	DEL	0.382	-	-	43772910	C	-	43772910	7	5	58	1	0	1	0	1	0	0	0	0	15940	747	26	0	756	0	TIE1	1	43772910	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1723240	43772910	205477711	79	14462											
KIAA0467	23334	genome.wustl.edu	37	chr1	43909268	43909268	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgatctttactctcatagCggcgccatcgccctgagtca	7	12	8	14	3	3	2	2	2	2	0	5	2	3	2	2	1	2	0	2	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:43909268C>T	ENST00000562955.1	+	61	8455	c.8455C>T	c.(8455-8457)Cgg>Tgg	p.R2819W	SZT2_ENST00000372442.1_Splice_Site_p.R1977W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2876					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R1977W(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCTCATAGCGGCGCCATCG	0.607																																																	2	Substitution - Missense(2)	NS(2)											50	52	51					1																	43909268		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8455-1C>T	1.37:g.43909268C>T			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.R2819W	ENST00000562955.1	37	c.8455	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034298	0.35893	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	3.45	0.39498	.	0.198936	0.39834	N	0.001260	T	0.47192	0.1432	N	0.22421	0.69	0.28974	N	0.88904	D	0.89917	1.0	D	0.68765	0.96	T	0.46076	-0.9217	8	.	.	.	.	13.9931	0.64378	0.4641:0.5359:0.0:0.0	.	2819	Q5T011-5	.	W	1977	.	.	R	+	1	2	SZT2	43681855	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	3.334000	0.52097	0.616000	0.30141	-0.175000	0.13238	CGG	SZT2	-	NULL	ENSG00000198198		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	-	0	29	0	C	NM_015284	Missense_Mutation	43909268	1	tier1	-	no_errors	ENST00000562955	ensembl	human	known	74_37	missense	55.56	8	10	SNP	1.000	T	T	43909268	C	T	43909268	5	4	58	1	0	0	0	0	0	0	1	0	8205	782	27	1	6107	1	KIAA0467	1	43909268	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	136358	43909268	205341353	80	14463											
B4GALT2	8704	genome.wustl.edu	37	chr1	44451262	44451262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcatgatcaagcacgacCgcgacaagcataacgaacct	15	4	8	14	5	1	1	1	1	0	0	1	4	1	1	3	0	4	3	3	0	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:44451262C>T	ENST00000356836.6	+	6	1727	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	B4GALT2_ENST00000372324.1_Missense_Mutation_p.R313C|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R342C|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R247C	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	313	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CAAGCACGACCGCGACAAGCA	0.572																																																	0													175	147	157					1																	44451262		2203	4300	6503	SO:0001583	missense	0			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"Beta 4-glycosyltransferases"	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.937C>T	1.37:g.44451262C>T	ENSP00000349293:p.Arg313Cys		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.R342C	ENST00000356836.6	37	c.1024	CCDS506.1	1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827209	0.71143	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.46	4.53	0.55603	.	0.060322	0.64402	D	0.000003	T	0.66626	0.2808	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.94;0.998;0.995	T	0.75351	-0.3348	10	0.87932	D	0	-15.69	16.1062	0.81223	0.0:0.8659:0.1341:0.0	.	342;247;313	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	C	313;247;313;342	ENSP00000361399:R313C;ENSP00000407468:R247C;ENSP00000349293:R313C;ENSP00000310696:R342C	ENSP00000310696:R342C	R	+	1	0	B4GALT2	44223849	0.934000	0.31675	1.000000	0.80357	0.889000	0.51656	2.041000	0.41213	1.260000	0.44134	0.411000	0.27672	CGC	B4GALT2	-	pfam_Galactosyl_T_C	ENSG00000117411		0.572	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT2	HGNC	protein_coding	OTTHUMT00000022840.1		0	15	0	C	NM_003780		44451262	1			no_errors	ENST00000309519	ensembl	human	known	74_37	missense	33.33	6	3	SNP	1.000	T	T	44451262	C	T	44451262	3	4	58	1	0	0	0	0	1	0	0	0	1272	652	23	1	955	1	B4GALT2	1	44451262	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	541994	44451262	204799359	81	14464											
KLF17	128209	genome.wustl.edu	37	chr1	44595030	44595030	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttttccccaaggataaCgagaactcagcgcccatctt	10	11	6	14	2	3	1	1	0	2	1	4	3	4	2	3	1	3	0	3	1	3	4	rs376492523		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:44595030C>T	ENST00000372299.3	+	2	145	c.87C>T	c.(85-87)aaC>aaT	p.N29N	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	29					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCAAGGATAACGAGAACTCAG	0.488																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	123	118	120		87	-2	0	1		120	0,8600		0,0,4300	no	coding-synonymous	KLF17	NM_173484.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		29/390	44595030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.87C>T	1.37:g.44595030C>T			Q86VQ7|Q8N805	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N29	ENST00000372299.3	37	c.87	CCDS508.1	1																																																																																			KLF17	-	NULL	ENSG00000171872		0.488	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	-	0	41	0	C	NM_173484		44595030	1	tier1	-	no_errors	ENST00000372299	ensembl	human	known	74_37	silent	32.61	31	15	SNP	0.000	T	T	44595030	C	T	44595030	2	4	58	1	0	0	0	0	0	0	0	1	8372	535	19	1		1	KLF17	1	44595030	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	143768	44595030	204655591	82	14465											
HPDL	84842	genome.wustl.edu	37	chr1	45793177	45793177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgccgccacttacgcCgtggtcagctcgcctgccgg	4	7	14	16	5	1	0	1	0	0	0	2	0	1	0	5	3	4	1	5	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:45793177C>T	ENST00000334815.3	+	1	633	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	119					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCACTTACGCCGTGGTCAGCT	0.731																																																	0													12	11	11					1																	45793177		2174	4263	6437	SO:0001819	synonymous_variant	0			BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"glyoxalase domain containing 1"	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.357C>T	1.37:g.45793177C>T			B2R9B0	Silent	SNP	pirsf_4OHPhenylPyrv_dOase	p.A119	ENST00000334815.3	37	c.357	CCDS519.1	1																																																																																			HPDL	-	pirsf_4OHPhenylPyrv_dOase	ENSG00000186603		0.731	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPDL	HGNC	protein_coding	OTTHUMT00000020527.1		0	20	0	C	NM_032756		45793177	1			no_errors	ENST00000334815	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.055	T	T	45793177	C	T	45793177	2	4	58	1	0	0	0	0	0	0	0	1	7360	639	23	1		1	HPDL	1	45793177	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1198147	45793177	203457444	83	14466											
MMACHC	25974	genome.wustl.edu	37	chr1	45973942	45973942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgcaccccaaccgacGccccaagatcctggcccaga	10	3	10	18	3	0	2	0	0	0	2	1	4	1	2	7	2	2	1	7	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:45973942G>T	ENST00000401061.4	+	3	615	c.335G>T	c.(334-336)cGc>cTc	p.R112L		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	112					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAACCGACGCCCCAAGATC	0.562																																																	0													73	75	74					1																	45973942		1942	4132	6074	SO:0001583	missense	0				CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.335G>T	1.37:g.45973942G>T	ENSP00000383840:p.Arg112Leu		Q5T157|Q9BRQ7	Missense_Mutation	SNP	NULL	p.R112L	ENST00000401061.4	37	c.335	CCDS41324.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317212	0.60524	.	.	ENSG00000132763	ENST00000401061	D	0.97665	-4.48	5.67	4.75	0.60458	.	0.098103	0.64402	D	0.000003	D	0.96883	0.8982	M	0.62209	1.925	0.53005	D	0.999963	D	0.56035	0.974	P	0.53809	0.735	D	0.96673	0.9498	10	0.87932	D	0	-12.8481	11.1777	0.48610	0.1487:0.0:0.8513:0.0	.	112	Q9Y4U1	MMAC_HUMAN	L	112	ENSP00000383840:R112L	ENSP00000383840:R112L	R	+	2	0	MMACHC	45746529	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	4.577000	0.60922	1.404000	0.46819	0.462000	0.41574	CGC	MMACHC	-	NULL	ENSG00000132763		0.562	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMACHC	HGNC	protein_coding	OTTHUMT00000020864.2	-	0	38	0	G	NM_015506		45973942	1	tier1	-	no_errors	ENST00000401061	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	45973942	G	T	45973942	3	4	58	1	0	0	0	0	1	0	0	0	9679	1087	38	2	345	2	MMACHC	1	45973942	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	180765	45973942	203276679	84	14467											
MAST2	23139	genome.wustl.edu	37	chr1	46496366	46496366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgagtgaggagaaggagGaccattcagatggcctggca	11	6	16	8	0	1	4	1	2	0	2	1	7	1	6	3	5	0	1	3	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:46496366G>T	ENST00000361297.2	+	22	2924	c.2641G>T	c.(2641-2643)Gac>Tac	p.D881Y	MAST2_ENST00000372009.2_Missense_Mutation_p.D811Y	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGAGAAGGAGGACCATTCAGA	0.647																																																	0													21	24	23					1																	46496366		2045	4185	6230	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2641G>T	1.37:g.46496366G>T	ENSP00000354671:p.Asp881Tyr			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.D881Y	ENST00000361297.2	37	c.2641	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947089	0.92593	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.67171	-0.2;-0.15;-0.25	4.86	4.86	0.63082	.	0.108348	0.64402	D	0.000012	T	0.78304	0.4262	M	0.76574	2.34	0.58432	D	0.999999	P;B;D;D	0.60575	0.936;0.001;0.979;0.988	P;B;P;P	0.56751	0.667;0.002;0.707;0.805	T	0.80801	-0.1220	10	0.56958	D	0.05	-14.3708	17.1568	0.86793	0.0:0.0:1.0:0.0	.	811;555;811;881	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	Y	881;811;555;766	ENSP00000354671:D881Y;ENSP00000361079:D811Y;ENSP00000361078:D766Y	ENSP00000354671:D881Y	D	+	1	0	MAST2	46268953	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.577000	0.82486	2.517000	0.84864	0.561000	0.74099	GAC	MAST2	-	NULL	ENSG00000086015		0.647	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1		0	66	0	G	NM_015112		46496366	1			no_errors	ENST00000361297	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	46496366	G	T	46496366	3	4	58	1	0	0	0	0	1	0	0	0	9363	1174	41	3	2727	3	MAST2	1	46496366	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	522424	46496366	202754255	85	14468											
POMGNT1	55624	genome.wustl.edu	37	chr1	46658080	46658080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccacacggtacagtagtGctgggtcctcagccgtgtgt	6	11	12	12	2	2	0	1	0	1	0	4	0	3	0	3	2	3	3	3	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:46658080G>A	ENST00000371984.3	-	16	1470	c.1313C>T	c.(1312-1314)gCa>gTa	p.A438V	POMGNT1_ENST00000371986.3_Missense_Mutation_p.A438V|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.A438V|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.A416V	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	438					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GTACAGTAGTGCTGGGTCCTC	0.577																																																	0													72	74	73					1																	46658080		2203	4300	6503	SO:0001583	missense	0				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	19139	protein-coding gene	gene with protein product	"protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"	606822	"muscle-eye-brain disease", "protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1313C>T	1.37:g.46658080G>A	ENSP00000361052:p.Ala438Val		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	pfam_Glyco_trans_13	p.A438V	ENST00000371984.3	37	c.1313	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.221052	0.95139	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.74	5.74	0.90152	.	0.163295	0.56097	D	0.000035	D	0.83871	0.5348	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P;P	0.48998	0.682;0.858;0.858;0.918;0.629;0.858	B;B;B;P;B;B	0.46685	0.234;0.345;0.345;0.524;0.345;0.345	D	0.83933	0.0307	10	0.48119	T	0.1	-13.9129	19.9221	0.97091	0.0:0.0:1.0:0.0	.	416;416;416;438;295;438	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	V	438;438;416;438	ENSP00000361052:A438V;ENSP00000361060:A438V;ENSP00000443767:A416V;ENSP00000361054:A438V	ENSP00000361052:A438V	A	-	2	0	POMGNT1	46430667	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.184000	0.94893	2.716000	0.92895	0.650000	0.86243	GCA	POMGNT1	-	pfam_Glyco_trans_13	ENSG00000085998		0.577	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1	-	0	35	0	G	NM_017739		46658080	-1	tier1	-	no_errors	ENST00000371986	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.998	A	A	46658080	G	A	46658080	3	1	58	1	0	0	0	0	1	0	0	0	12282	1319	46	3	697	3	POMGNT1	1	46658080	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	161714	46658080	202592541	86	14469											
CYP4Z1	199974	genome.wustl.edu	37	chr1	47534379	47534379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgggttggaccctttaCgatgttcttcagtgtccatg	5	16	11	9	1	2	0	1	0	1	0	3	2	3	1	2	2	1	2	2	2	1	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:47534379C>T	ENST00000334194.3	+	2	266	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	88						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GGACCCTTTACGATGTTCTTC	0.438																																																	0													192	168	176					1																	47534379		2203	4300	6503	SO:0001583	missense	0			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"Cytochrome P450s"	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.263C>T	1.37:g.47534379C>T	ENSP00000334246:p.Thr88Met		Q5VVE4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.T88M	ENST00000334194.3	37	c.263	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295554	0.40594	.	.	ENSG00000186160	ENST00000334194	T	0.70045	-0.45	2.83	0.194	0.15143	.	1.013080	0.07961	U	0.982406	T	0.53142	0.1778	N	0.11698	0.16	0.09310	N	1	D	0.69078	0.997	P	0.53035	0.716	T	0.42344	-0.9457	10	0.34782	T	0.22	.	3.2575	0.06837	0.4992:0.2883:0.0:0.2125	.	88	Q86W10	CP4Z1_HUMAN	M	88	ENSP00000334246:T88M	ENSP00000334246:T88M	T	+	2	0	CYP4Z1	47306966	0.000000	0.05858	0.003000	0.11579	0.705000	0.40729	-0.151000	0.10175	-0.074000	0.12820	0.461000	0.40582	ACG	CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186160		0.438	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	-	0	158	0	C	NM_178134		47534379	1	tier1	-	no_errors	ENST00000334194	ensembl	human	known	74_37	missense	40.00	87	58	SNP	0.017	T	T	47534379	C	T	47534379	3	4	58	1	0	0	0	0	1	0	0	0	4203	536	19	1	269	1	CYP4Z1	1	47534379	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	876299	47534379	201716242	87	14470											
STIL	6491	genome.wustl.edu	37	chr1	47746485	47746485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtcttataggatactcttCgttttgtacatttccagcag	8	16	9	8	1	2	0	0	0	2	0	4	1	3	1	1	2	3	3	1	2	4	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:47746485C>T	ENST00000360380.3	-	13	2008	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	STIL_ENST00000243182.6_Missense_Mutation_p.E549K|STIL_ENST00000371877.3_Missense_Mutation_p.E549K|STIL_ENST00000396221.2_Missense_Mutation_p.E549K|STIL_ENST00000337817.5_Missense_Mutation_p.E549K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	549					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E549K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GGATACTCTTCGTTTTGTACA	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											125	136	132					1																	47746485		2203	4300	6503	SO:0001583	missense	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"TAL1 (SCL) interrupting locus"	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1645G>A	1.37:g.47746485C>T	ENSP00000353544:p.Glu549Lys		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.E549K	ENST00000360380.3	37	c.1645	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	7.347	0.621994	0.14193	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	2.17;2.17;2.17;2.16;2.17;0.82	5.1	3.21	0.36854	.	0.485105	0.22993	N	0.053171	T	0.31575	0.0801	L	0.29908	0.895	0.33186	D	0.5502	B;B;B;B;B	0.13145	0.002;0.007;0.002;0.007;0.007	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002	T	0.33828	-0.9853	10	0.13108	T	0.6	-11.92	10.5952	0.45333	0.0:0.7947:0.1329:0.0724	.	549;502;549;549;549	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	K	549;549;549;549;549;502	ENSP00000353544:E549K;ENSP00000337367:E549K;ENSP00000360944:E549K;ENSP00000379523:E549K;ENSP00000243182:E549K;ENSP00000411664:E502K	ENSP00000243182:E549K	E	-	1	0	STIL	47519072	1.000000	0.71417	0.826000	0.32828	0.098000	0.18820	2.775000	0.47702	0.538000	0.28769	-0.137000	0.14449	GAA	STIL	-	NULL	ENSG00000123473		0.423	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	-	0	70	0	C	NM_003035		47746485	-1	tier1	-	no_errors	ENST00000371877	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.925	T	T	47746485	C	T	47746485	3	4	58	1	0	0	0	0	1	0	0	0	15329	893	31	1	2245	1	STIL	1	47746485	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	212106	47746485	201504136	88	14471											
AGBL4	84871	genome.wustl.edu	37	chr1	49119009	49119009	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctccccaattccttacCtgtaattgcccaggtagact	9	13	5	14	0	1	1	0	0	1	1	3	1	2	1	5	1	2	2	5	1	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:49119009C>A	ENST00000371839.1	-	8	955	c.839G>T	c.(838-840)aGg>aTg	p.R280M	AGBL4_ENST00000334103.7_Splice_Site_p.R13M|AGBL4_ENST00000371838.1_Splice_Site_p.R280M	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	280					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AATTCCTTACCTGTAATTGCC	0.438																																																	0													44	42	43					1																	49119009		1868	4103	5971	SO:0001630	splice_region_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.839+1G>T	1.37:g.49119009C>A			B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.R280M	ENST00000371839.1	37	c.839	CCDS44137.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.739097|4.739097	0.89573|0.89573	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000416121;ENST00000432500|ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838	.|T;T;T	.|0.25579	.|1.79;1.79;1.79	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Peptidase M14, carboxypeptidase A (1);	.|0.038312	.|0.85682	.|D	.|0.000000	T|T	0.66944|0.66944	0.2841|0.2841	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.995;0.989;0.995;0.999;1.0	T|T	0.77504|0.77504	-0.2563|-0.2563	5|9	.|.	.|.	.|.	-30.0653|-30.0653	19.1272|19.1272	0.93390|0.93390	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|95;292;13;125;280	.|A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.|.;.;.;.;CBPC6_HUMAN	C|M	126;69|280;274;13;280	.|ENSP00000360905:R280M;ENSP00000335516:R13M;ENSP00000360904:R280M	.|.	G|R	-|-	1|2	0|0	AGBL4|AGBL4	48891596|48891596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	7.487000|7.487000	0.81328|0.81328	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	GGT|AGG	AGBL4	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000186094		0.438	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	-	0	77	0	C	NM_032785	Missense_Mutation	49119009	-1	tier1	-	no_errors	ENST00000371839	ensembl	human	known	74_37	missense	29.27	58	24	SNP	1.000	A	A	49119009	C	A	49119009	5	1	58	1	0	0	0	0	0	0	1	0	377	695	24	3	700	3	AGBL4	1	49119009	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1372524	49119009	200131612	89	14472											
TTC39A	22996	genome.wustl.edu	37	chr1	51761818	51761818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaacatgctgaggtaggCggccttcatgtaaatgtagg	11	9	12	9	1	1	1	1	1	0	0	1	1	1	1	2	4	2	4	2	4	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:51761818C>T	ENST00000447632.2	-	13	1234	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000530004.1_Missense_Mutation_p.A4T|TTC39A_ENST00000262675.7_Missense_Mutation_p.A333T|TTC39A_ENST00000371750.5_Missense_Mutation_p.A361T|TTC39A_ENST00000413473.2_Missense_Mutation_p.A364T|TTC39A_ENST00000451380.1_Missense_Mutation_p.A360T|TTC39A_ENST00000371747.3_Missense_Mutation_p.A395T			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	396								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CTGAGGTAGGCGGCCTTCATG	0.597											OREG0013486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											48	54	52					1																	51761818		2058	4178	6236	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1186G>A	1.37:g.51761818C>T	ENSP00000393952:p.Ala396Thr	979	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.A396T	ENST00000447632.2	37	c.1186		1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761483	0.89932	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906;ENST00000371747	T;T;T;T;T;T;T;T	0.58210	0.84;0.35;0.35;0.35;0.35;0.35;0.84;0.84	5.23	4.29	0.51040	.	0.156285	0.56097	D	0.000023	T	0.69468	0.3114	M	0.84082	2.675	0.44168	D	0.996974	D;D;D;D;D;D	0.89917	0.981;0.991;1.0;1.0;0.985;1.0	P;P;D;D;P;D	0.71656	0.794;0.87;0.974;0.974;0.87;0.956	T	0.70230	-0.4929	10	0.42905	T	0.14	-6.5235	8.8719	0.35320	0.2618:0.666:0.0:0.0722	.	364;360;333;360;396;361	Q5SRH9-4;E7EQY9;D3DQ30;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	T	4;396;364;333;360;361;4;395	ENSP00000431228:A4T;ENSP00000393952:A396T;ENSP00000406144:A364T;ENSP00000262675:A333T;ENSP00000397207:A360T;ENSP00000360815:A361T;ENSP00000436659:A4T;ENSP00000360812:A395T	ENSP00000262675:A333T	A	-	1	0	TTC39A	51534406	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.720000	0.54933	2.436000	0.82500	0.563000	0.77884	GCC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.597	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	-	0	113	0	C			51761818	-1	tier1	-	no_errors	ENST00000447632	ensembl	human	known	74_37	missense	39.62	64	42	SNP	0.986	T	T	51761818	C	T	51761818	3	4	58	1	0	0	0	0	1	0	0	0	16756	768	27	1	679	1	TTC39A	1	51761818	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2642809	51761818	197488803	90	14473											
NRD1	4898	genome.wustl.edu	37	chr1	52257299	52257299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaaaatcctagaatccCggatgtgttcctacaggtag	13	9	10	9	1	0	2	0	0	0	2	3	4	3	3	3	2	1	2	3	2	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:52257299C>T	ENST00000354831.7	-	29	3304	c.3115G>A	c.(3115-3117)Ggg>Agg	p.G1039R	NRD1_ENST00000539524.1_Missense_Mutation_p.G907R|NRD1_ENST00000352171.7_Missense_Mutation_p.G971R|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	970					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCTAGAATCCCGGATGTGTTC	0.473																																																	0													187	166	173					1																	52257299		2203	4300	6503	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.3115G>A	1.37:g.52257299C>T	ENSP00000346890:p.Gly1039Arg		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.G1039R	ENST00000354831.7	37	c.3115	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978392	0.92982	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169	T;T;T	0.15017	2.46;2.46;2.46	5.21	5.21	0.72293	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.15925	-1.0420	10	0.56958	D	0.05	-12.7065	17.9262	0.88983	0.0:1.0:0.0:0.0	.	971;970;1039	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	R	971;1039;907;971	ENSP00000262679:G971R;ENSP00000346890:G1039R;ENSP00000444416:G907R	ENSP00000262679:G971R	G	-	1	0	NRD1	52029887	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.709000	0.92574	0.655000	0.94253	GGG	NRD1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.473	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0	67	0	C	NM_002525		52257299	-1	tier1	-	no_errors	ENST00000354831	ensembl	human	known	74_37	missense	40.91	39	27	SNP	1.000	T	T	52257299	C	T	52257299	3	4	58	1	0	0	0	0	1	0	0	0	10684	652	23	1	564	1	NRD1	1	52257299	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	495481	52257299	196993322	91	14474											
NRD1	4898	genome.wustl.edu	37	chr1	52290994	52290994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccataggatgtccaggtctaGcaaggcttccaaacaacatt	13	9	8	11	0	1	0	0	0	1	0	3	1	3	1	3	3	3	2	3	3	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:52290994G>T	ENST00000354831.7	-	8	1394	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	NRD1_ENST00000544028.1_Missense_Mutation_p.A202D|NRD1_ENST00000539524.1_Missense_Mutation_p.A270D|NRD1_ENST00000352171.7_Missense_Mutation_p.A334D|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	333					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCCAGGTCTAGCAAGGCTTCC	0.303																																																	0													63	63	63					1																	52290994		2203	4300	6503	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1205C>A	1.37:g.52290994G>T	ENSP00000346890:p.Ala402Asp		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A402D	ENST00000354831.7	37	c.1205	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.168113	0.94768	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.42	5.42	0.78866	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.046559	0.85682	D	0.000000	T	0.70780	0.3263	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.973;0.996;0.996	T	0.78679	-0.2110	10	0.87932	D	0	-13.2721	19.2083	0.93744	0.0:0.0:1.0:0.0	.	334;333;402	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	D	334;402;270;334;202	ENSP00000262679:A334D;ENSP00000346890:A402D;ENSP00000444416:A270D;ENSP00000442262:A202D	ENSP00000262679:A334D	A	-	2	0	NRD1	52063582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.452000	0.97615	2.563000	0.86464	0.655000	0.94253	GCT	NRD1	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.303	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0	72	0	G	NM_002525		52290994	-1	tier1	-	no_errors	ENST00000354831	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	52290994	G	T	52290994	3	4	58	1	0	0	0	0	1	0	0	0	10684	971	34	3	2558	3	NRD1	1	52290994	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	33695	52290994	196959627	92	14475											
BTF3L4	91408	genome.wustl.edu	37	chr1	52530571	52530571	+	Frame_Shift_Del	DEL	A	A	-																															aaaaagcttcagagttctctAaaaaaactggctgtgaataa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:52530571delA	ENST00000313334.8	+	3	397	c.129delA	c.(127-129)ctafs	p.L43fs	BTF3L4_ENST00000533836.1_3'UTR|BTF3L4_ENST00000489308.2_Frame_Shift_Del_p.L43fs|BTF3L4_ENST00000484036.1_Frame_Shift_Del_p.L43fs|BTF3L4_ENST00000472944.2_5'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	43	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.									endometrium(2)|kidney(1)|large_intestine(2)	5						AGAGTTCTCTAAAAAAACTGG	0.393																																																	0													70	71	71					1																	52530571		2203	4300	6503	SO:0001589	frameshift_variant	0			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.129delA	1.37:g.52530571delA	ENSP00000360664:p.Leu43fs		B3KNJ1|D3DQ32|G3V1C6	Frame_Shift_Del	DEL	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.K45fs	ENST00000313334.8	37	c.129	CCDS30713.1	1																																																																																			BTF3L4	-	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	ENSG00000134717		0.393	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTF3L4	HGNC	protein_coding	OTTHUMT00000024848.1		0	56	0	A	NM_152265		52530571	1	tier1		no_errors	ENST00000313334	ensembl	human	known	74_37	frame_shift_del	36.00	48	27	DEL	0.252	-	-	52530571	A	-	52530571	7	5	58	1	0	1	0	1	0	0	0	0	1556	349	13	0	135	0	BTF3L4	1	52530571	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	239577	52530571	196720050	93	14476											
GLIS1	148979	genome.wustl.edu	37	chr1	53990500	53990500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggccttgacgtgcttgcGgagggagctggggtctgtgt	4	11	19	7	2	1	1	0	1	1	0	1	3	1	3	1	5	3	2	1	5	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:53990500G>A	ENST00000312233.2	-	5	1584	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ACGTGCTTGCGGAGGGAGCTG	0.632																																																	0													198	160	173					1																	53990500		2203	4300	6503	SO:0001583	missense	0			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1018C>T	1.37:g.53990500G>A	ENSP00000309653:p.Arg340Cys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R340C	ENST00000312233.2	37	c.1018	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	g	18.63	3.666324	0.67814	.	.	ENSG00000174332	ENST00000312233	T	0.36340	1.26	4.2	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139499	0.32488	N	0.006033	T	0.57036	0.2026	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60752	-0.7201	10	0.72032	D	0.01	.	12.4182	0.55506	0.0832:0.0:0.9168:0.0	.	340	Q8NBF1	GLIS1_HUMAN	C	340	ENSP00000309653:R340C	ENSP00000309653:R340C	R	-	1	0	GLIS1	53763088	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	6.769000	0.74985	0.917000	0.36895	-0.642000	0.03964	CGC	GLIS1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174332		0.632	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	-	0	62	0	G	NM_147193		53990500	-1	tier1	-	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	A	A	53990500	G	A	53990500	3	1	58	1	0	0	0	0	1	0	0	0	6471	1116	39	1	868	1	GLIS1	1	53990500	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1459929	53990500	195260121	94	14477											
CDCP2	200008	genome.wustl.edu	37	chr1	54606938	54606938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacagccacgtagtcatagGtgcactcttcattgccctcc	8	10	8	15	1	3	0	2	0	1	0	4	0	4	0	3	1	3	3	3	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:54606938G>A	ENST00000371330.1	-	3	1443	c.596C>T	c.(595-597)aCc>aTc	p.T199I	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	199	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTAGTCATAGGTGCACTCTTC	0.657																																																	0													76	69	71					1																	54606938		2203	4300	6503	SO:0001583	missense	0				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.596C>T	1.37:g.54606938G>A	ENSP00000360381:p.Thr199Ile		Q6ZWJ3	Missense_Mutation	SNP	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	p.T199I	ENST00000371330.1	37	c.596	CCDS588.2	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615329	0.46631	.	.	ENSG00000157211	ENST00000371330	T	0.28895	1.59	5.04	1.79	0.24919	CUB (5);	0.554792	0.18007	N	0.154697	T	0.13543	0.0328	N	0.12527	0.23	0.24042	N	0.996079	P	0.34864	0.473	B	0.34991	0.193	T	0.09618	-1.0666	10	0.37606	T	0.19	-13.6981	2.3964	0.04391	0.0932:0.265:0.3233:0.3184	.	199	Q5VXM1	CDCP2_HUMAN	I	199	ENSP00000360381:T199I	ENSP00000360381:T199I	T	-	2	0	CDCP2	54379526	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.092000	0.41700	0.661000	0.30985	0.561000	0.74099	ACC	CDCP2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000157211		0.657	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CDCP2	HGNC	protein_coding	OTTHUMT00000022209.2	-	0	32	0	G	NM_201546		54606938	-1	tier1	-	no_errors	ENST00000371330	ensembl	human	novel	74_37	missense	37.84	23	14	SNP	1.000	A	A	54606938	G	A	54606938	3	1	58	1	0	0	0	0	1	0	0	0	3101	1261	44	3	761	3	CDCP2	1	54606938	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	616438	54606938	194643683	95	14478											
FAM151A	338094	genome.wustl.edu	37	chr1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-																															gtgttgtcactgtagatagtGggggggtgtgccatgatggg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:55081757delG	ENST00000302250.2	-	3	511	c.351delC	c.(349-351)cccfs	p.P117fs	FAM151A_ENST00000371304.2_Frame_Shift_Del_p.P117fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGTAGATAGTGGGGGGGTGTG	0.592																																																	1	Deletion - Frameshift(1)	ovary(1)											108	86	93					1																	55081757		2203	4300	6503	SO:0001589	frameshift_variant	0			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 179"	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.351delC	1.37:g.55081757delG	ENSP00000306888:p.Pro117fs		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Del	DEL	pfam_DUF2181	p.T118fs	ENST00000302250.2	37	c.351	CCDS594.1	1																																																																																			FAM151A	-	pfam_DUF2181	ENSG00000162391		0.592	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1		0	43	0	G	NM_176782		55081757	-1	tier1		no_errors	ENST00000302250	ensembl	human	known	74_37	frame_shift_del	34.09	29	15	DEL	0.037	-	-	55081757	G	-	55081757	7	5	58	1	0	1	0	1	0	0	0	0	5477	1335	47	0	1430	0	FAM151A	1	55081757	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	474819	55081757	194168864	96	14479											
TTC22	55001	genome.wustl.edu	37	chr1	55252654	55252654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagcagtctagagggtcGgtccctgagtacccgcagtc	8	7	13	13	3	1	2	0	1	1	1	4	3	2	2	3	2	2	3	3	2	3	2	rs570712934	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:55252654G>A	ENST00000371276.4	-	4	937	c.834C>T	c.(832-834)acC>acT	p.T278T	TTC22_ENST00000371274.4_Silent_p.T278T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	278										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CTAGAGGGTCGGTCCCTGAGT	0.642													G|||	2	0.000399361	0	0	5008	,	,		14895	0		0	False		,,,				2504	0.002																0													29	27	28					1																	55252654		2202	4300	6502	SO:0001819	synonymous_variant	0			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"Tetratricopeptide (TTC) repeat domain containing"	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.834C>T	1.37:g.55252654G>A			Q9NWT4	Silent	SNP	smart_TPR_repeat	p.T278	ENST00000371276.4	37	c.834	CCDS44152.1	1																																																																																			TTC22	-	NULL	ENSG00000006555		0.642	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	HGNC	protein_coding	OTTHUMT00000027438.1	-	0	65	0	G	NM_017904		55252654	-1	tier1	-	no_errors	ENST00000371276	ensembl	human	known	74_37	silent	52.31	31	34	SNP	0.079	A	A	55252654	G	A	55252654	2	1	58	1	0	0	0	0	0	0	0	1	16738	1103	39	1		1	TTC22	1	55252654	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	170897	55252654	193997967	97	14480											
PCSK9	255738	genome.wustl.edu	37	chr1	55521773	55521773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcaacgccgcctgccagCgcctggcgagggctggggtc	4	6	15	16	4	1	0	1	0	0	0	3	1	2	0	5	4	3	1	5	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:55521773C>T	ENST00000302118.5	+	6	1197	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PCSK9_ENST00000543384.1_Missense_Mutation_p.R103C|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	303	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CGCCTGCCAGCGCCTGGCGAG	0.687																																					Pancreas(137;1454 1827 5886 22361 42375)												0													11	13	13					1																	55521773		2186	4288	6474	SO:0001583	missense	0			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.907C>T	1.37:g.55521773C>T	ENSP00000303208:p.Arg303Cys		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R303C	ENST00000302118.5	37	c.907	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890025	0.52014	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.88124	-2.34;-2.34	3.88	2.97	0.34412	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	1.054890	0.07484	U	0.904443	D	0.88833	0.6544	M	0.75447	2.3	0.32603	N	0.525584	D	0.76494	0.999	P	0.49140	0.601	D	0.84048	0.0368	10	0.72032	D	0.01	-2.8675	7.1823	0.25780	0.0:0.7328:0.172:0.0952	.	303	Q8NBP7	PCSK9_HUMAN	C	303;103	ENSP00000303208:R303C;ENSP00000441859:R103C	ENSP00000303208:R303C	R	+	1	0	PCSK9	55294361	0.172000	0.23043	0.229000	0.23960	0.716000	0.41182	0.487000	0.22356	0.818000	0.34468	0.563000	0.77884	CGC	PCSK9	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000169174		0.687	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1		0	35	0	C	NM_174936		55521773	1			no_errors	ENST00000302118	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.669	T	T	55521773	C	T	55521773	3	4	58	1	0	0	0	0	1	0	0	0	11645	768	27	1	929	1	PCSK9	1	55521773	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	269119	55521773	193728848	98	14481											
C8A	731	genome.wustl.edu	37	chr1	57378168	57378168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcgccttggaccagtatctGatggaattcaatgcctgccg	8	10	11	12	3	2	1	1	1	1	0	2	3	2	3	4	2	2	1	4	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:57378168G>A	ENST00000361249.3	+	10	1569	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	491	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ACCAGTATCTGATGGAATTCA	0.637																																																	0													80	84	83					1																	57378168		2203	4300	6503	SO:0001819	synonymous_variant	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"Complement system"	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1473G>A	1.37:g.57378168G>A			A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.L491	ENST00000361249.3	37	c.1473	CCDS606.1	1																																																																																			C8A	-	smart_MACPF,prints_MAC_perforin	ENSG00000157131		0.637	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	-	0	49	0	G	NM_000562		57378168	1	tier1	rs148316319	no_errors	ENST00000361249	ensembl	human	known	74_37	silent	48.08	27	25	SNP	0.996	A	A	57378168	G	A	57378168	2	1	58	1	0	0	0	0	0	0	0	1	2423	1277	45	3		3	C8A	1	57378168	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1856395	57378168	191872453	99	14482											
ALG6	29929	genome.wustl.edu	37	chr1	63836654	63836654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttgaagaactatggaGaaatggtacttgatgacagt	16	12	10	3	0	0	5	0	3	0	2	0	6	0	5	0	2	2	1	0	2	7	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:63836654G>T	ENST00000371108.4	+	2	311	c.6G>T	c.(4-6)gaG>gaT	p.E2D	ALG6_ENST00000263440.4_Missense_Mutation_p.E2D	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	2					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAACTATGGAGAAATGGTACT	0.358																																																	0													176	176	176					1																	63836654		2203	4300	6503	SO:0001583	missense	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.6G>T	1.37:g.63836654G>T	ENSP00000360149:p.Glu2Asp		B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.E2D	ENST00000371108.4	37	c.6	CCDS30735.1	1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566544	0.45694	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	T;T	0.70045	-0.45;-0.45	5.75	-0.266	0.12942	.	0.099208	0.64402	N	0.000002	T	0.20618	0.0496	N	0.25647	0.755	0.30840	N	0.735744	B	0.02656	0.0	B	0.06405	0.002	T	0.07290	-1.0780	10	0.11485	T	0.65	-6.1428	4.2017	0.10469	0.3074:0.3225:0.3701:0.0	.	2	A2A2G4	.	D	2	ENSP00000360149:E2D;ENSP00000263440:E2D	ENSP00000263440:E2D	E	+	3	2	ALG6	63609242	0.981000	0.34729	0.925000	0.36789	0.975000	0.68041	-0.009000	0.12765	0.349000	0.23975	0.655000	0.94253	GAG	ALG6	-	NULL	ENSG00000088035		0.358	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	-	0	131	0	G	NM_013339		63836654	1	tier1	-	no_errors	ENST00000371108	ensembl	human	known	74_37	missense	40.50	72	49	SNP	0.514	T	T	63836654	G	T	63836654	3	4	58	1	0	0	0	0	1	0	0	0	522	933	33	3	8	3	ALG6	1	63836654	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6458486	63836654	185413967	100	14483											
PDE4B	5142	genome.wustl.edu	37	chr1	66838073	66838073	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgatgctcaggacatTctcgataccttagaagataa	13	10	8	10	1	2	3	1	1	1	2	3	5	2	4	2	1	3	1	2	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:66838073T>G	ENST00000329654.4	+	17	2110	c.1923T>G	c.(1921-1923)atT>atG	p.I641M	PDE4B_ENST00000371045.5_Missense_Mutation_p.I469M|PDE4B_ENST00000480109.2_Missense_Mutation_p.I408M|PDE4B_ENST00000371049.3_Missense_Mutation_p.I641M|PDE4B_ENST00000423207.2_Missense_Mutation_p.I626M	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	641					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CTCAGGACATTCTCGATACCT	0.478																																																	0													131	124	127					1																	66838073		2203	4300	6503	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1923T>G	1.37:g.66838073T>G	ENSP00000332116:p.Ile641Met		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.I641M	ENST00000329654.4	37	c.1923	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208380	0.58343	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.05	1.56	0.23342	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.35593	1.075	0.80722	D	1	P;D;D;D;D	0.63880	0.825;0.975;0.98;0.993;0.993	P;D;D;D;D	0.72625	0.696;0.94;0.952;0.978;0.948	T	0.58092	-0.7697	10	0.45353	T	0.12	.	7.2586	0.26191	0.0:0.3621:0.0:0.6379	.	408;626;511;631;641	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	M	641;641;641;626;469;408	ENSP00000332116:I641M;ENSP00000342637:I641M;ENSP00000360088:I641M;ENSP00000392947:I626M;ENSP00000360084:I469M;ENSP00000432592:I408M	ENSP00000332116:I641M	I	+	3	3	PDE4B	66610661	0.996000	0.38824	1.000000	0.80357	0.831000	0.47069	0.307000	0.19296	0.490000	0.27771	0.533000	0.62120	ATT	PDE4B	-	pfam_PDEase_catalytic_dom	ENSG00000184588		0.478	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	-	0	50	0	T	NM_002600		66838073	1	tier1	-	no_errors	ENST00000329654	ensembl	human	known	74_37	missense	44.44	20	16	SNP	1.000	G	G	66838073	T	G	66838073	3	3	58	1	0	0	0	0	1	0	0	0	11679	1771	62	4	2343	4	PDE4B	1	66838073	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3001419	66838073	182412548	101	14484											
MSH4	4438	genome.wustl.edu	37	chr1	76288248	76288248	+	Frame_Shift_Del	DEL	T	T	-																															tacttcaagatgaggaactaTtttttggacttcaatcaggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:76288248delT	ENST00000263187.3	+	7	1248	c.1144delT	c.(1144-1146)tttfs	p.F383fs		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	383					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGAGGAACTATTTTTTGGACT	0.274								Mismatch excision repair (MMR)																																									0													56	59	58					1																	76288248		2203	4293	6496	SO:0001589	frameshift_variant	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1144delT	1.37:g.76288248delT	ENSP00000263187:p.Phe383fs		Q5T4U6|Q8NEB3|Q9UNP8	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.F383fs	ENST00000263187.3	37	c.1144	CCDS670.1	1																																																																																			MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1		0	29	0	T	NM_002440		76288248	1	tier1		no_errors	ENST00000263187	ensembl	human	known	74_37	frame_shift_del	25.64	29	10	DEL	1.000	-	-	76288248	T	-	76288248	7	5	58	1	0	1	0	1	0	0	0	0	9910	1493	52	0	1170	0	MSH4	1	76288248	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	9450175	76288248	172962373	102	14485											
FUBP1	8880	genome.wustl.edu	37	chr1	78444659	78444659	+	Frame_Shift_Del	DEL	G	G	-																															ccaccagctgagccagaagaGgggggaggcactgttgaata																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:78444659delG	ENST00000370768.2	-	1	111	c.30delC	c.(28-30)cccfs	p.P10fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.P10fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	10					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGCCAGAAGAGGGGGGAGGCA	0.557			"F, N"		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													37	42	40					1																	78444659		2203	4300	6503	SO:0001589	frameshift_variant	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.30delC	1.37:g.78444659delG	ENSP00000359804:p.Pro10fs		Q12828	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.S11fs	ENST00000370768.2	37	c.30	CCDS683.1	1																																																																																			FUBP1	-	NULL	ENSG00000162613		0.557	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3		0	112	0	G	NM_003902		78444659	-1	tier1		no_errors	ENST00000436586	ensembl	human	known	74_37	frame_shift_del	36.71	50	29	DEL	0.020	-	-	78444659	G	-	78444659	7	5	58	1	0	1	0	1	0	0	0	0	6116	987	35	0	1984	0	FUBP1	1	78444659	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	2156411	78444659	170805962	103	14486											
PTGFR	5737	genome.wustl.edu	37	chr1	78959098	78959098	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtgcaatgcaatcacaGgaattacacttttaagagtt	13	14	8	6	0	1	1	1	0	0	1	1	2	1	2	0	1	3	4	0	1	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:78959098G>T	ENST00000370757.3	+	2	907	c.670G>T	c.(670-672)Gga>Tga	p.G224*	PTGFR_ENST00000370758.1_Nonsense_Mutation_p.G224*|PTGFR_ENST00000370756.3_Nonsense_Mutation_p.G224*	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	224					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TGCAATCACAGGAATTACACT	0.383																																																	0													60	62	62					1																	78959098		2203	4300	6503	SO:0001587	stop_gained	0			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"GPCR / Class A : Prostanoid receptors"	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.670G>T	1.37:g.78959098G>T	ENSP00000359793:p.Gly224*		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn	p.G224*	ENST00000370757.3	37	c.670	CCDS686.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.316194	0.98207	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	.	.	.	5.85	5.85	0.93711	.	0.222920	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.6745	20.5471	0.99284	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000359792:G224X	G	+	1	0	PTGFR	78731686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.908000	0.63307	2.941000	0.99782	0.655000	0.94253	GGA	PTGFR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000122420		0.383	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFR	HGNC	protein_coding	OTTHUMT00000026582.1		0	15	0	G	NM_000959		78959098	1			no_errors	ENST00000370757	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	78959098	G	T	78959098	4	4	58	1	0	0	0	0	0	1	0	0	12792	1001	35	3	672	3	PTGFR	1	78959098	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	514439	78959098	170291523	104	14487											
IFI44	10561	genome.wustl.edu	37	chr1	79129487	79129487	+	Frame_Shift_Del	DEL	A	A	-																															attatcaactgtgcacaaggAaaaaaatagatatgtgaaag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:79129487delA	ENST00000370747.4	+	9	1411	c.1326delA	c.(1324-1326)ggafs	p.G442fs	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	442					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTGCACAAGGAAAAAAATAGA	0.358																																																	0													115	107	110					1																	79129487		2203	4300	6503	SO:0001589	frameshift_variant	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1326delA	1.37:g.79129487delA	ENSP00000359783:p.Gly442fs		B7ZAG3|D3DQ80|Q14496	Frame_Shift_Del	DEL	pfam_TLDc,superfamily_P-loop_NTPase	p.K444fs	ENST00000370747.4	37	c.1326	CCDS688.1	1																																																																																			IFI44	-	NULL	ENSG00000137965		0.358	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1		0	45	0	A	NM_006417		79129487	1	tier1		no_errors	ENST00000370747	ensembl	human	known	74_37	frame_shift_del	31.34	46	21	DEL	0.000	-	-	79129487	A	-	79129487	7	5	58	1	0	1	0	1	0	0	0	0	7544	233	9	0	1356	0	IFI44	1	79129487	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	170389	79129487	170121134	105	14488											
DDAH1	23576	genome.wustl.edu	37	chr1	85787205	85787205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaccttttccagttcaGacatgctcacggggatcagc	9	10	8	14	1	3	1	3	0	0	1	5	2	5	2	3	2	2	2	3	2	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:85787205G>T	ENST00000284031.8	-	6	882	c.788C>A	c.(787-789)tCt>tAt	p.S263Y	DDAH1_ENST00000542148.1_Missense_Mutation_p.S163Y|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000426972.3_Missense_Mutation_p.S170Y|DDAH1_ENST00000539042.1_Missense_Mutation_p.S263Y|DDAH1_ENST00000535924.2_Missense_Mutation_p.S160Y	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	263					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTCCAGTTCAGACATGCTCAC	0.473																																																	0													109	98	101					1																	85787205		2203	4300	6503	SO:0001583	missense	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.788C>A	1.37:g.85787205G>T	ENSP00000284031:p.Ser263Tyr		Q5HYC8|Q86XK5	Missense_Mutation	SNP	pfam_Amidino_trans	p.S263Y	ENST00000284031.8	37	c.788	CCDS705.1	1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754881	0.49362	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.72	5.72	0.89469	.	0.268590	0.41194	D	0.000924	T	0.63698	0.2533	M	0.73319	2.225	0.41728	D	0.989549	P;P	0.46952	0.887;0.887	B;P	0.46076	0.302;0.503	T	0.69453	-0.5141	9	0.87932	D	0	-11.1937	20.2504	0.98404	0.0:0.0:1.0:0.0	.	163;263	B4DYP1;O94760	.;DDAH1_HUMAN	Y	263;263;160;170;163	.	ENSP00000284031:S263Y	S	-	2	0	DDAH1	85559793	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.205000	0.51090	2.850000	0.98022	0.650000	0.86243	TCT	DDAH1	-	pfam_Amidino_trans	ENSG00000153904		0.473	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1	-	0	78	0	G			85787205	-1	tier1	-	no_errors	ENST00000284031	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	85787205	G	T	85787205	3	4	58	1	0	0	0	0	1	0	0	0	4330	942	33	3	73	3	DDAH1	1	85787205	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6657718	85787205	163463416	106	14489											
GBP3	2635	genome.wustl.edu	37	chr1	89473442	89473442	+	Frame_Shift_Del	DEL	T	T	-																															atgcgacatatatctcttggTtttttttttcagggtcttct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:89473442delT	ENST00000370481.4	-	11	1973	c.1753delA	c.(1753-1755)accfs	p.T585fs		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TATCTCTTGGTTTTTTTTTTC	0.368																																																	0													224	219	221					1																	89473442		2203	4300	6503	SO:0001589	frameshift_variant	0			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1753delA	1.37:g.89473442delT	ENSP00000359512:p.Thr585fs		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Del	DEL	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.T585fs	ENST00000370481.4	37	c.1753	CCDS717.2	1																																																																																			GBP3	-	NULL	ENSG00000117226		0.368	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3		0	147	0	T	NM_018284		89473442	-1	tier1		no_errors	ENST00000370481	ensembl	human	known	74_37	frame_shift_del	31.76	116	54	DEL	0.000	-	-	89473442	T	-	89473442	7	5	58	1	0	1	0	1	0	0	0	0	6300	1725	60	0	38	0	GBP3	1	89473442	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3686237	89473442	159777179	107	14490											
LRRC8D	55144	genome.wustl.edu	37	chr1	90399253	90399253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttgaatccccttggaCgacaaaagcgttgtctgaga	10	11	11	9	2	1	2	0	2	1	1	2	5	2	3	2	1	2	2	2	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:90399253C>T	ENST00000337338.5	+	3	1033	c.626C>T	c.(625-627)aCg>aTg	p.T209M	LRRC8D_ENST00000394593.3_Missense_Mutation_p.T209M	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	209					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T209M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCCCCTTGGACGACAAAAGCG	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											59	60	60					1																	90399253		2203	4300	6503	SO:0001583	missense	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.626C>T	1.37:g.90399253C>T	ENSP00000338887:p.Thr209Met		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T209M	ENST00000337338.5	37	c.626	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602171	0.66445	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.57752	1.05;1.05;0.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68096	-0.5499	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	209	Q7L1W4	LRC8D_HUMAN	M	209	ENSP00000338887:T209M;ENSP00000378093:T209M;ENSP00000405784:T209M	.	T	+	2	0	LRRC8D	90171841	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACG	LRRC8D	-	NULL	ENSG00000171492		0.418	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	-	0	37	0	C	NM_018103		90399253	1	tier1	-	no_errors	ENST00000337338	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T	T	90399253	C	T	90399253	3	4	58	1	0	0	0	0	1	0	0	0	9059	536	19	1	628	1	LRRC8D	1	90399253	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	925811	90399253	158851368	108	14491											
CDC7	8317	genome.wustl.edu	37	chr1	91967300	91967300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctttggggattcagatGgatgagccaatggctttttc	7	14	13	7	1	2	2	1	1	1	1	3	4	2	4	1	4	1	1	1	4	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:91967300G>T	ENST00000428239.1	+	2	286	c.27G>T	c.(25-27)atG>atT	p.M9I	CDC7_ENST00000430031.2_Missense_Mutation_p.M9I|CDC7_ENST00000234626.6_Missense_Mutation_p.M9I|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	9					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GGATTCAGATGGATGAGCCAA	0.458											OREG0013599	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													148	156	154					1																	91967300		2203	4300	6503	SO:0001583	missense	0			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.27G>T	1.37:g.91967300G>T	ENSP00000393139:p.Met9Ile	1286	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M9I	ENST00000428239.1	37	c.27	CCDS734.1	1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123865	0.56613	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.46819	0.86;1.07;1.07;2.05	5.42	5.42	0.78866	.	0.224693	0.39020	N	0.001491	T	0.15652	0.0377	L	0.27053	0.805	0.27268	N	0.958457	B;B	0.16603	0.008;0.018	B;B	0.14023	0.006;0.01	T	0.04551	-1.0943	10	0.13108	T	0.6	-7.2909	12.2571	0.54629	0.0:0.0:0.8193:0.1807	.	9;9	B7Z5H7;O00311	.;CDC7_HUMAN	I	9	ENSP00000407477:M9I;ENSP00000234626:M9I;ENSP00000393139:M9I;ENSP00000398077:M9I	ENSP00000234626:M9I	M	+	3	0	CDC7	91739888	1.000000	0.71417	0.822000	0.32727	0.951000	0.60555	3.651000	0.54431	2.689000	0.91719	0.591000	0.81541	ATG	CDC7	-	NULL	ENSG00000097046		0.458	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	-	0	50	0	G	NM_003503		91967300	1	tier1	-	no_errors	ENST00000234626	ensembl	human	known	74_37	missense	7.84	46	4	SNP	0.981	T	T	91967300	G	T	91967300	3	4	58	1	0	0	0	0	1	0	0	0	3091	1348	47	3	29	3	CDC7	1	91967300	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1568047	91967300	157283321	109	14492											
CDC7	8317	genome.wustl.edu	37	chr1	91978780	91978780	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtacctaaggagctGgatcagcagtccaccacaaa	13	5	10	13	0	1	0	1	0	0	0	2	2	2	2	4	3	3	3	4	3	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:91978780G>T	ENST00000428239.1	+	7	997	c.738G>T	c.(736-738)ctG>ctT	p.L246L	CDC7_ENST00000430031.2_Silent_p.L218L|CDC7_ENST00000234626.6_Silent_p.L246L	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CTAAGGAGCTGGATCAGCAGT	0.418																																																	0													86	89	88					1																	91978780		2203	4300	6503	SO:0001819	synonymous_variant	0			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1", "CDC7 cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 (S. cerevisiae)", "cell division cycle 7 homolog (S. cerevisiae)"	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.738G>T	1.37:g.91978780G>T			D3DT31|O00558|Q5T5U5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L246	ENST00000428239.1	37	c.738	CCDS734.1	1																																																																																			CDC7	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000097046		0.418	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1		0	26	0	G	NM_003503		91978780	1			no_errors	ENST00000234626	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.004	T	T	91978780	G	T	91978780	2	4	58	1	0	0	0	0	0	0	0	1	3091	1335	47	3		3	CDC7	1	91978780	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	11480	91978780	157271841	110	14493											
AGL	178	genome.wustl.edu	37	chr1	100380976	100380976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttactacagaaaaagcatGgaaagctttggagattgcag	15	10	10	6	0	0	2	0	0	0	2	0	4	0	3	0	2	5	3	0	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:100380976G>T	ENST00000294724.4	+	31	4671	c.4193G>T	c.(4192-4194)tGg>tTg	p.W1398L	AGL_ENST00000361302.3_Missense_Mutation_p.W1382L|AGL_ENST00000370163.3_Missense_Mutation_p.W1398L|AGL_ENST00000370161.2_Missense_Mutation_p.W1382L|AGL_ENST00000361915.3_Missense_Mutation_p.W1398L|AGL_ENST00000361522.4_Missense_Mutation_p.W1381L|AGL_ENST00000370165.3_Missense_Mutation_p.W1398L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1398				W -> G (in Ref. 1; AAB41040, 2; AAB48466/ AAB48467/AAB48468/AAB48469/AAB48470 and 3). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAAAAAGCATGGAAAGCTTTG	0.348																																																	0			GRCh37	CM021484	AGL	M							79	84	82					1																	100380976		2203	4300	6503	SO:0001583	missense	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4193G>T	1.37:g.100380976G>T	ENSP00000294724:p.Trp1398Leu		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.W1398L	ENST00000294724.4	37	c.4193	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.110111	0.94292	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.77	5.77	0.91146	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	L	0.39467	1.215	0.80722	D	1	P;P;P	0.50617	0.839;0.839;0.937	P;P;P	0.59643	0.615;0.615;0.861	T	0.58200	-0.7678	10	0.18710	T	0.47	.	19.9883	0.97356	0.0:0.0:1.0:0.0	.	1381;1382;1398	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	L	1398;1398;1398;1398;1382;1382;1381	ENSP00000355106:W1398L;ENSP00000359184:W1398L;ENSP00000359182:W1398L;ENSP00000294724:W1398L;ENSP00000354971:W1382L;ENSP00000359180:W1382L;ENSP00000354635:W1381L	ENSP00000294724:W1398L	W	+	2	0	AGL	100153564	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.334000	0.96470	2.722000	0.93159	0.555000	0.69702	TGG	AGL	-	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.348	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	-	0	38	0	G	NM_000028		100380976	1	tier1	-	no_errors	ENST00000294724	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	100380976	G	T	100380976	3	4	58	1	0	0	0	0	1	0	0	0	384	1357	47	3	4380	3	AGL	1	100380976	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8402196	100380976	148869645	111	14494											
CDC14A	8556	genome.wustl.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-																															gcactcctgtctggctcaaaCcccccctatcttccattcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:100889837delC	ENST00000336454.3	+	5	724	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370125.2_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403																																																	0													95	99	98					1																	100889837		2203	4300	6503	SO:0001589	frameshift_variant	0			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"	1718	protein-coding gene	gene with protein product		603504	"CDC10 (cell division cycle 10, S. cerevisiae, homolog)", "CDC14 cell division cycle 14 homolog A (S. cerevisiae)"			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.369delC	1.37:g.100889837delC	ENSP00000336739:p.Asn123fs		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y126fs	ENST00000336454.3	37	c.369	CCDS769.1	1																																																																																			CDC14A	-	NULL	ENSG00000079335		0.403	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1		0	97	0	C	NM_033312		100889837	1	tier1		no_errors	ENST00000361544	ensembl	human	known	74_37	frame_shift_del	35.63	56	31	DEL	0.021	-	-	100889837	C	-	100889837	7	5	58	1	0	1	0	1	0	0	0	0	3063	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	508861	100889837	148360784	112	14495											
COL11A1	1301	genome.wustl.edu	37	chr1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-																															ttggccccagatgaaccaggCcccccctatagagaaaaagt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:103474067delC	ENST00000370096.3	-	15	1947	c.1635delG	c.(1633-1635)gggfs	p.G545fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G429fs|COL11A1_ENST00000461720.1_5'Flank|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G506fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.G557fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	545	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGAACCAGGCCCCCCCTATA	0.368																																																	0													53	64	60					1																	103474067		2202	4300	6502	SO:0001589	frameshift_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1635delG	1.37:g.103474067delC	ENSP00000359114:p.Gly545fs		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P558fs	ENST00000370096.3	37	c.1671	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	46	0	C	NM_080630		103474067	-1	tier1		no_errors	ENST00000358392	ensembl	human	known	74_37	frame_shift_del	39.13	28	18	DEL	0.000	-	-	103474067	C	-	103474067	7	5	58	1	0	1	0	1	0	0	0	0	3674	726	26	0	3997	0	COL11A1	1	103474067	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	2584230	103474067	145776554	113	14496											
STXBP3	6814	genome.wustl.edu	37	chr1	109315355	109315355	+	Frame_Shift_Del	DEL	A	A	-																															gaccctggtaatgcaaagggAaaagatgccattatggaaac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:109315355delA	ENST00000370008.3	+	7	557	c.507delA	c.(505-507)ggafs	p.G169fs	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	169	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATGCAAAGGGAAAAGATGCCA	0.393																																																	0													126	116	119					1																	109315355		2203	4300	6503	SO:0001589	frameshift_variant	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.507delA	1.37:g.109315355delA	ENSP00000359025:p.Gly169fs		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Frame_Shift_Del	DEL	pfam_Sec1-like,superfamily_Sec1-like	p.D171fs	ENST00000370008.3	37	c.507	CCDS790.1	1																																																																																			STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000116266		0.393	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1		0	31	0	A	NM_007269		109315355	1	tier1		no_errors	ENST00000370008	ensembl	human	known	74_37	frame_shift_del	40.62	19	13	DEL	0.327	-	-	109315355	A	-	109315355	7	5	58	1	0	1	0	1	0	0	0	0	15401	233	9	0	533	0	STXBP3	1	109315355	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	5841288	109315355	139935266	114	14497											
CELSR2	1952	genome.wustl.edu	37	chr1	109812405	109812405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagtgcaaccacatgaCgagcttcgctgtgctcatgg	8	9	11	13	2	1	1	1	1	0	0	2	2	1	1	2	1	5	4	2	1	1	1	rs371466342		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:109812405C>T	ENST00000271332.3	+	22	7131	c.7070C>T	c.(7069-7071)aCg>aTg	p.T2357M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2357	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCACATGACGAGCTTCGCT	0.657																																					NSCLC(158;1285 2011 34800 34852 42084)												0								C	MET/THR	0,4406		0,0,2203	107	112	110		7070	4	1	1		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2357/2924	109812405	1,13005	2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7070C>T	1.37:g.109812405C>T	ENSP00000271332:p.Thr2357Met		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T2357M	ENST00000271332.3	37	c.7070	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439663	0.63067	0.0	1.16E-4	ENSG00000143126	ENST00000271332	D	0.82344	-1.6	3.95	3.95	0.45737	GPS domain (3);	.	.	.	.	D	0.90693	0.7080	M	0.90977	3.165	0.42957	D	0.994394	D	0.89917	1.0	D	0.75484	0.986	D	0.91905	0.5535	9	0.56958	D	0.05	.	12.8493	0.57848	0.0:0.8348:0.1652:0.0	.	2357	Q9HCU4	CELR2_HUMAN	M	2357	ENSP00000271332:T2357M	ENSP00000271332:T2357M	T	+	2	0	CELSR2	109613928	0.491000	0.26019	0.997000	0.53966	0.946000	0.59487	1.057000	0.30492	2.033000	0.60031	0.462000	0.41574	ACG	CELSR2	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000143126		0.657	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	0	36	0	C	NM_001408		109812405	1	tier1	-	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T	T	109812405	C	T	109812405	3	4	58	1	0	0	0	0	1	0	0	0	3229	536	19	1	7156	1	CELSR2	1	109812405	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	497050	109812405	139438216	115	14498											
EPS8L3	79574	genome.wustl.edu	37	chr1	110300959	110300959	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccctctctgggtcctcGggggaagaggaccgccttgg	4	9	15	13	3	1	1	0	0	1	1	6	3	3	3	4	5	0	0	4	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:110300959G>T	ENST00000361965.4	-	8	802	c.696C>A	c.(694-696)ccC>ccA	p.P232P	EPS8L3_ENST00000361852.4_Silent_p.P232P|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Silent_p.P233P|EPS8L3_ENST00000494151.1_5'Flank	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	232	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGGTCCTCGGGGGAAGAGG	0.607																																																	0													157	166	163					1																	110300959		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.696C>A	1.37:g.110300959G>T			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.P233	ENST00000361965.4	37	c.699	CCDS814.1	1																																																																																			EPS8L3	-	NULL	ENSG00000198758		0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1		0	76	0	G	NM_024526		110300959	-1			no_errors	ENST00000369805	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.000	T	T	110300959	G	T	110300959	2	4	58	1	0	0	0	0	0	0	0	1	5213	1103	39	2		2	EPS8L3	1	110300959	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	488554	110300959	138949662	116	14499											
ADORA3	140	genome.wustl.edu	37	chr1	112045780	112045780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaacaatggccaaaggcAtgaccagcaccccaacagca	16	3	8	14	0	0	2	0	2	0	0	0	2	0	2	4	2	4	3	4	2	4	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:112045780A>G	ENST00000241356.4	-	1	602	c.197T>C	c.(196-198)aTg>aCg	p.M66T	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.M66T|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	66					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GGCCAAAGGCATGACCAGCAC	0.517																																																	0													108	79	89					1																	112045780		2203	4300	6503	SO:0001583	missense	0			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"GPCR / Class A : Adenosine receptors", "Immunoglobulin superfamily / V-set domain containing"	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.197T>C	1.37:g.112045780A>G	ENSP00000241356:p.Met66Thr		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.M66T	ENST00000241356.4	37	c.197	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153974	0.38021	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.73469	-0.75;-0.75	5.56	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.118294	0.36303	N	0.002679	T	0.59702	0.2213	M	0.72353	2.195	0.34489	D	0.704711	B;B	0.22003	0.063;0.058	B;B	0.20577	0.026;0.03	T	0.61811	-0.6986	10	0.66056	D	0.02	-12.469	11.4613	0.50213	0.9274:0.0:0.0726:0.0	.	66;66	P33765;P33765-2	AA3R_HUMAN;.	T	66	ENSP00000358730:M66T;ENSP00000241356:M66T	ENSP00000241356:M66T	M	-	2	0	ADORA3	111847303	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.156000	0.77453	0.888000	0.36160	0.459000	0.35465	ATG	ADORA3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000121933		0.517	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033065.1	-	0	72	0	A	NM_000677, NM_020683		112045780	-1	tier1	-	no_errors	ENST00000369716	ensembl	human	known	74_37	missense	33.33	40	20	SNP	1.000	G	G	112045780	A	G	112045780	3	3	58	1	0	0	0	0	1	0	0	0	329	217	8	4	1481	4	ADORA3	1	112045780	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1744821	112045780	137204841	117	14500											
KCND3	3752	genome.wustl.edu	37	chr1	112525257	112525257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttgttcttgtcggccGgggccaggggcatggggcag	3	8	19	11	3	1	0	0	0	1	0	2	0	1	0	3	7	0	4	3	7	0	3	rs374337721		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:112525257G>A	ENST00000315987.2	-	2	571	c.92C>T	c.(91-93)cCg>cTg	p.P31L	KCND3_ENST00000369697.1_Missense_Mutation_p.P31L|KCND3_ENST00000302127.4_Missense_Mutation_p.P31L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	31					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTTGTCGGCCGGGGCCAGGGG	0.682																																																	0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	35	35	35		92,92	5.4	1	1		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCND3	NM_004980.4,NM_172198.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/656,31/637	112525257	1,13005	2203	4300	6503	SO:0001583	missense	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.92C>T	1.37:g.112525257G>A	ENSP00000319591:p.Pro31Leu		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.P31L	ENST00000315987.2	37	c.92	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350124	0.61183	0.0	1.16E-4	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97114	-4.23;-4.25;-4.23	5.41	5.41	0.78517	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.99402	1.0928	10	0.72032	D	0.01	.	18.7773	0.91916	0.0:0.0:1.0:0.0	.	31;31	Q14D71;Q9UK17	.;KCND3_HUMAN	L	31	ENSP00000358711:P31L;ENSP00000319591:P31L;ENSP00000306923:P31L	ENSP00000306923:P31L	P	-	2	0	KCND3	112326780	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.542000	0.85734	0.561000	0.74099	CCG	KCND3	-	pfam_Shal-type,prints_K_chnl_volt-dep_Kv4.3	ENSG00000171385		0.682	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	-	0	50	0	G	NM_172198		112525257	-1	tier1	-	no_errors	ENST00000315987	ensembl	human	known	74_37	missense	38.10	26	16	SNP	1.000	A	A	112525257	G	A	112525257	3	1	58	1	0	0	0	0	1	0	0	0	8047	1116	39	1	1903	1	KCND3	1	112525257	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	479477	112525257	136725364	118	14501											
CTTNBP2NL	55917	genome.wustl.edu	37	chr1	112999451	112999451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcatcagctagcagccctgGctaccagtcatcgtaccaag	10	8	9	14	1	3	0	3	0	0	0	4	0	3	0	3	1	5	4	3	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:112999451G>A	ENST00000271277.6	+	6	1562	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	446					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCAGCCCTGGCTACCAGTCA	0.542																																																	0													202	207	205					1																	112999451		2203	4300	6503	SO:0001583	missense	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1337G>A	1.37:g.112999451G>A	ENSP00000271277:p.Gly446Asp		B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.G446D	ENST00000271277.6	37	c.1337	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048107	0.19827	.	.	ENSG00000143079	ENST00000271277	T	0.22945	1.93	5.56	5.56	0.83823	.	0.510593	0.24145	N	0.041129	T	0.13329	0.0323	L	0.40543	1.245	0.50813	D	0.999897	B	0.22276	0.067	B	0.17433	0.018	T	0.04029	-1.0983	10	0.25106	T	0.35	-7.2434	19.1035	0.93283	0.0:0.0:1.0:0.0	.	446	Q9P2B4	CT2NL_HUMAN	D	446	ENSP00000271277:G446D	ENSP00000271277:G446D	G	+	2	0	CTTNBP2NL	112800974	1.000000	0.71417	0.982000	0.44146	0.407000	0.30961	3.841000	0.55850	2.609000	0.88269	0.462000	0.41574	GGC	CTTNBP2NL	-	NULL	ENSG00000143079		0.542	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	-	0	21	0	G	NM_018704		112999451	1	tier1	-	no_errors	ENST00000271277	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	A	A	112999451	G	A	112999451	3	1	58	1	0	0	0	0	1	0	0	0	4055	1203	42	3	1351	3	CTTNBP2NL	1	112999451	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	474194	112999451	136251170	119	14502											
LRIG2	9860	genome.wustl.edu	37	chr1	113661870	113661870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaggtggcactggtacccGggtgatttgctcagattgtt	7	14	13	7	1	1	2	1	1	0	1	1	2	1	2	1	4	2	4	1	4	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:113661870G>A	ENST00000361127.5	+	17	2894	c.2696G>A	c.(2695-2697)cGg>cAg	p.R899Q	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	899					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ACTGGTACCCGGGTGATTTGC	0.393																																																	0													117	112	114					1																	113661870		2203	4300	6503	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"Immunoglobulin superfamily / I-set domain containing"	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2696G>A	1.37:g.113661870G>A	ENSP00000355396:p.Arg899Gln		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R899Q	ENST00000361127.5	37	c.2696	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379918	0.42207	.	.	ENSG00000198799	ENST00000361127	T	0.60920	0.15	5.22	4.24	0.50183	.	0.082593	0.47455	D	0.000224	T	0.25419	0.0618	L	0.38531	1.155	0.28956	N	0.890117	B	0.26318	0.146	B	0.12156	0.007	T	0.03306	-1.1050	10	0.21540	T	0.41	.	11.5623	0.50785	0.0:0.0:0.6523:0.3477	.	899	O94898	LRIG2_HUMAN	Q	899	ENSP00000355396:R899Q	ENSP00000355396:R899Q	R	+	2	0	LRIG2	113463393	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.964000	0.70379	2.585000	0.87301	0.655000	0.94253	CGG	LRIG2	-	NULL	ENSG00000198799		0.393	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	-	0	56	0	G	NM_014813		113661870	1	tier1	-	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A	A	113661870	G	A	113661870	3	1	58	1	0	0	0	0	1	0	0	0	8980	1116	39	1	2762	1	LRIG2	1	113661870	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	662419	113661870	135588751	120	14503											
HIPK1	204851	genome.wustl.edu	37	chr1	114499264	114499264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgaatatgtctacaGacctggagggaacagacatg	14	7	14	6	0	1	3	0	1	1	2	1	6	1	6	1	4	2	0	1	4	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:114499264G>T	ENST00000369558.1	+	6	1655	c.1423G>T	c.(1423-1425)Gac>Tac	p.D475Y	HIPK1_ENST00000369561.4_Missense_Mutation_p.D475Y|HIPK1_ENST00000369554.2_Missense_Mutation_p.D475Y|HIPK1_ENST00000369555.2_Missense_Mutation_p.D475Y|HIPK1_ENST00000406344.1_Missense_Mutation_p.D81Y|HIPK1_ENST00000369559.4_Missense_Mutation_p.D475Y|HIPK1_ENST00000369553.1_Missense_Mutation_p.D81Y|HIPK1_ENST00000340480.4_Missense_Mutation_p.D101Y|HIPK1_ENST00000426820.2_Missense_Mutation_p.D475Y			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGTCTACAGACCTGGAGGG	0.393																																																	0													81	77	78					1																	114499264		2203	4300	6503	SO:0001583	missense	0			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1423G>T	1.37:g.114499264G>T	ENSP00000358571:p.Asp475Tyr		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D475Y	ENST00000369558.1	37	c.1423	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071159	0.76301	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.24723	2.06;2.06;2.06;2.06;2.06;2.06;2.06;3.72;1.84;1.84	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.33206	0.0855	L	0.31371	0.925	0.80722	D	1	D;D;D	0.89917	0.978;1.0;1.0	D;D;D	0.87578	0.929;0.998;0.997	T	0.17684	-1.0361	10	0.87932	D	0	.	18.6579	0.91460	0.0:0.0:1.0:0.0	.	81;475;475	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	Y	546;475;475;475;475;475;475;101;81;81	ENSP00000407442:D546Y;ENSP00000358572:D475Y;ENSP00000409673:D475Y;ENSP00000358567:D475Y;ENSP00000358568:D475Y;ENSP00000358571:D475Y;ENSP00000358574:D475Y;ENSP00000340956:D101Y;ENSP00000358566:D81Y;ENSP00000384960:D81Y	ENSP00000340956:D101Y	D	+	1	0	HIPK1	114300787	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.537000	0.60643	2.646000	0.89796	0.650000	0.86243	GAC	HIPK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000163349		0.393	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	-	0	46	0	G	NM_198268		114499264	1	tier1	-	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	114499264	G	T	114499264	3	4	58	1	0	0	0	0	1	0	0	0	7143	942	33	3	1459	3	HIPK1	1	114499264	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	837394	114499264	134751357	121	14504											
SYT6	148281	genome.wustl.edu	37	chr1	114680475	114680475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtctcgtaatcgtagCgtaggctgaagttgatcttc	7	14	11	9	4	3	2	0	2	3	0	7	2	3	2	0	2	1	5	0	2	4	5	rs201154501		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:114680475C>T	ENST00000610222.1	-	3	859	c.713G>A	c.(712-714)cGc>cAc	p.R238H	SYT6_ENST00000393296.1_Missense_Mutation_p.R238H|SYT6_ENST00000609117.1_Missense_Mutation_p.R153H|SYT6_ENST00000369547.1_Missense_Mutation_p.R153H|SYT6_ENST00000607941.1_Missense_Mutation_p.R153H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	238	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATCGTAGCGTAGGCTGAA	0.542													C|||	1	0.000199681	0	0	5008	,	,		22807	0		0	False		,,,				2504	0.001																0													163	137	146					1																	114680475		2203	4300	6503	SO:0001583	missense	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"Synaptotagmins"	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.713G>A	1.37:g.114680475C>T	ENSP00000476396:p.Arg238His		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R238H	ENST00000610222.1	37	c.713		1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206360	0.39003	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.47	4.45	0.53987	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.117416	0.56097	D	0.000036	T	0.02012	0.0063	N	0.24115	0.695	0.42205	D	0.99178	P	0.38922	0.651	B	0.34242	0.178	T	0.40572	-0.9556	10	0.62326	D	0.03	.	3.5411	0.07811	0.0:0.6418:0.0:0.3582	.	238	Q5T7P8	SYT6_HUMAN	H	153;238;153;238	ENSP00000358560:R153H;ENSP00000376974:R238H;ENSP00000358559:R153H;ENSP00000358558:R238H	ENSP00000358558:R238H	R	-	2	0	SYT6	114481998	1.000000	0.71417	0.990000	0.47175	0.138000	0.21146	4.100000	0.57762	2.564000	0.86499	0.655000	0.94253	CGC	SYT6	-	superfamily_C2_dom,prints_Synaptotagmin	ENSG00000134207		0.542	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	-	0	88	0	C	NM_205848		114680475	-1	tier1	rs201154501	no_errors	ENST00000393296	ensembl	human	known	74_37	missense	36.36	70	40	SNP	1.000	T	T	114680475	C	T	114680475	3	4	58	1	0	0	0	0	1	0	0	0	15525	768	27	1	839	1	SYT6	1	114680475	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	181211	114680475	134570146	122	14505											
NRAS	4893	genome.wustl.edu	37	chr1	115252224	115252224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaggtttcaatgaatggaAtcccgtaactcttggccagt	10	12	10	9	1	2	2	1	2	1	0	3	3	3	3	2	3	1	2	2	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:115252224A>G	ENST00000369535.4	-	4	669	c.416T>C	c.(415-417)aTt>aCt	p.I139T		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	139					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGAATGGAATCCCGTAACT	0.448		50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	0													226	176	193					1																	115252224		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.416T>C	1.37:g.115252224A>G	ENSP00000358548:p.Ile139Thr		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I139T	ENST00000369535.4	37	c.416	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903734	0.72754	.	.	ENSG00000213281	ENST00000369535	T	0.78126	-1.15	5.44	5.44	0.79542	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000027	T	0.73055	0.3538	M	0.65975	2.015	0.80722	D	1	B	0.31548	0.328	B	0.38458	0.274	T	0.77629	-0.2516	10	0.72032	D	0.01	.	15.7849	0.78294	1.0:0.0:0.0:0.0	.	139	P01111	RASN_HUMAN	T	139	ENSP00000358548:I139T	ENSP00000358548:I139T	I	-	2	0	NRAS	115053747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.168000	0.94781	2.179000	0.69175	0.528000	0.53228	ATT	NRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000213281		0.448	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	HGNC	protein_coding	OTTHUMT00000033395.2	-	0	137	0	A	NM_002524		115252224	-1	tier1	-	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	6.13	152	10	SNP	1.000	G	G	115252224	A	G	115252224	3	3	58	1	0	0	0	0	1	0	0	0	10679	101	4	4	161	4	NRAS	1	115252224	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	571749	115252224	133998397	123	14506											
VANGL1	81839	genome.wustl.edu	37	chr1	116226673	116226673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggccgaacatgaacGgcgagtaaagaagcggaaag	17	3	15	6	4	0	4	0	2	0	2	0	7	0	5	1	3	3	1	1	3	7	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:116226673G>A	ENST00000355485.2	+	6	1326	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	VANGL1_ENST00000369510.4_Missense_Mutation_p.R350Q|VANGL1_ENST00000310260.3_Missense_Mutation_p.R352Q|VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000369509.1_Missense_Mutation_p.R352Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	352					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAACATGAACGGCGAGTAAAG	0.443																																																	0													76	69	71					1																	116226673		2203	4300	6503	SO:0001583	missense	0			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)", "vang-like 1 (van gogh, Drosophila)"			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1055G>A	1.37:g.116226673G>A	ENSP00000347672:p.Arg352Gln		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.R352Q	ENST00000355485.2	37	c.1055	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232146	0.79688	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.90741	0.7094	M	0.89601	3.045	0.80722	D	1	P;D	0.53151	0.948;0.958	P;P	0.49502	0.479;0.613	D	0.92957	0.6385	10	0.87932	D	0	-14.5438	17.6175	0.88071	0.0:0.0:1.0:0.0	.	350;352	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Q	352;350;352;352	ENSP00000347672:R352Q;ENSP00000358523:R350Q;ENSP00000310800:R352Q;ENSP00000358522:R352Q	ENSP00000310800:R352Q	R	+	2	0	VANGL1	116028196	1.000000	0.71417	0.926000	0.36857	0.116000	0.19942	9.192000	0.94947	2.366000	0.80165	0.551000	0.68910	CGG	VANGL1	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000173218		0.443	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VANGL1	HGNC	protein_coding	OTTHUMT00000033096.1	-	0	52	0	G			116226673	1	tier1	-	no_errors	ENST00000310260	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.998	A	A	116226673	G	A	116226673	3	1	58	1	0	0	0	0	1	0	0	0	17168	1116	39	1	1073	1	VANGL1	1	116226673	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	974449	116226673	133023948	124	14507											
ATP1A1	476	genome.wustl.edu	37	chr1	116927462	116927462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggaacagacttgagcCgggtatgttctagtttgaaa	13	12	11	5	1	1	3	0	2	1	1	1	4	1	4	1	2	2	3	1	2	6	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:116927462C>T	ENST00000295598.5	+	3	433	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	ATP1A1_ENST00000369496.4_Missense_Mutation_p.R30W|ATP1A1_ENST00000537345.1_Missense_Mutation_p.R61W|AL136376.1_ENST00000598661.1_5'Flank	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	61					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R61R(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGACTTGAGCCGGGTATGTTC	0.363																																																	1	Substitution - coding silent(1)	lung(1)											135	128	130					1																	116927462		2203	4300	6503	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.181C>T	1.37:g.116927462C>T	ENSP00000295598:p.Arg61Trp		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.R61W	ENST00000295598.5	37	c.181	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208817	0.79240	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.22	4.3	0.51218	ATPase, P-type cation-transporter, N-terminal (2);	0.214566	0.46758	D	0.000275	D	0.84009	0.5378	M	0.80183	2.485	0.51482	D	0.999924	D;D;D	0.71674	0.993;0.994;0.998	P;P;P	0.57009	0.608;0.728;0.811	D	0.86937	0.2077	10	0.87932	D	0	.	13.5787	0.61890	0.1556:0.8444:0.0:0.0	.	61;61;61	F5H3A1;P05023;P05023-2	.;AT1A1_HUMAN;.	W	30;61;61;30;60;30	ENSP00000400124:R30W;ENSP00000295598:R61W;ENSP00000445306:R61W;ENSP00000358506:R30W;ENSP00000358508:R30W	ENSP00000295598:R61W	R	+	1	2	ATP1A1	116728985	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.515000	0.60489	1.395000	0.46643	0.563000	0.77884	CGG	ATP1A1	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000163399		0.363	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	-	0	74	0	C	NM_001160233		116927462	1	tier1	-	no_errors	ENST00000295598	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	T	T	116927462	C	T	116927462	3	4	58	1	0	0	0	0	1	0	0	0	1129	643	23	1	207	1	ATP1A1	1	116927462	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	700789	116927462	132323159	125	14508											
ATP1A1	476	genome.wustl.edu	37	chr1	116930848	116930849	+	Frame_Shift_Ins	INS	-	-	A																															caaagatcatggaatccttcINSaaaaacatggtccctcaggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:116930848_116930849insA	ENST00000295598.5	+	5	735_736	c.483_484insA	c.(484-486)aaafs	p.K162fs	ATP1A1_ENST00000369496.4_Frame_Shift_Ins_p.K131fs|ATP1A1_ENST00000537345.1_Frame_Shift_Ins_p.K162fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	162					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TGGAATCCTTCAAAAACATGGT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.488dupA	1.37:g.116930853_116930853dupA	ENSP00000295598:p.Lys162fs		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.N162fs	ENST00000295598.5	37	c.483_484	CCDS887.1	1																																																																																			ATP1A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000163399		0.46	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0	30	0	-	NM_001160233		116930849	1	tier1		no_errors	ENST00000295598	ensembl	human	known	74_37	frame_shift_ins	26.47	25	9	INS	1.000:1.000	A	A	116930849	-	A	116930848	7	5	58	1	0	1	1	0	0	0	0	0	1129	825	29	0	517	0	ATP1A1	1	116930848	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	3386	116930848	132319773	126	14509											
PTGFRN	5738	genome.wustl.edu	37	chr1	117504097	117504097	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagaggagcaagcagcgGgcccaggatggagactttat	12	5	17	7	1	0	2	0	0	0	2	0	7	0	5	1	5	3	2	1	5	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:117504097G>T	ENST00000393203.2	+	5	1593	c.1446G>T	c.(1444-1446)cgG>cgT	p.R482R	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	482	Ig-like C2-type 4.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCAAGCAGCGGGCCCAGGATG	0.502																																																	0													80	76	77					1																	117504097		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9601	protein-coding gene	gene with protein product		601204	"prostaglandin F2 receptor negative regulator"			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1446G>T	1.37:g.117504097G>T			Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R482	ENST00000393203.2	37	c.1446	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000134247		0.502	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	-	0	66	0	G	NM_020440		117504097	1	tier1	-	no_errors	ENST00000393203	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.999	T	T	117504097	G	T	117504097	2	4	58	1	0	0	0	0	0	0	0	1	12793	1219	43	3		3	PTGFRN	1	117504097	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	573249	117504097	131746524	127	14510											
TRIM45	80263	genome.wustl.edu	37	chr1	117661014	117661014	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtcccgatgctcctcAatggccttaatgtagccctc	7	12	8	14	1	1	0	1	0	0	0	4	1	3	0	4	1	3	3	4	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:117661014A>G	ENST00000256649.4	-	2	1390	c.864T>C	c.(862-864)atT>atC	p.I288I	TRIM45_ENST00000369461.3_Silent_p.I231I|TRIM45_ENST00000369464.3_Silent_p.I288I	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	288					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GATGCTCCTCAATGGCCTTAA	0.557																																																	0													74	75	75					1																	117661014		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.864T>C	1.37:g.117661014A>G			Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.I288	ENST00000256649.4	37	c.864	CCDS893.1	1																																																																																			TRIM45	-	smart_Bbox_C	ENSG00000134253		0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	HGNC	protein_coding	OTTHUMT00000033503.1	-	0	56	0	A	NM_025188		117661014	-1	tier1	-	no_errors	ENST00000256649	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.643	G	G	117661014	A	G	117661014	2	3	58	1	0	0	0	0	0	0	0	1	16568	126	5	4		4	TRIM45	1	117661014	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	156917	117661014	131589607	128	14511											
MAN1A2	10905	genome.wustl.edu	37	chr1	118065513	118065513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggtgtttaatacagaGgctcaccctctgcctgtgtt	7	13	10	11	0	2	1	1	0	1	1	2	1	2	1	2	2	2	3	2	2	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:118065513G>T	ENST00000356554.3	+	13	2595	c.1860G>T	c.(1858-1860)gaG>gaT	p.E620D		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	620					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTAATACAGAGGCTCACCCTC	0.433																																					Ovarian(33;199 881 8228 13687 31538)												0													148	143	145					1																	118065513		2203	4299	6502	SO:0001583	missense	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1860G>T	1.37:g.118065513G>T	ENSP00000348959:p.Glu620Asp		Q9H510	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E620D	ENST00000356554.3	37	c.1860	CCDS895.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.709565|3.709565	0.68730|0.68730	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000329466;ENST00000422329|ENST00000421535	T;T|.	0.79749|.	-1.3;-1.3|.	5.93|5.93	3.87|3.87	0.44632|0.44632	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79429|0.79429	0.4444|0.4444	H|H	0.96889|0.96889	3.9|3.9	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.83617|0.83617	0.0137|0.0137	10|5	0.87932|.	D|.	0|.	-22.2168|-22.2168	8.277|8.277	0.31879|0.31879	0.225:0.0:0.775:0.0|0.225:0.0:0.775:0.0	.|.	620|.	O60476|.	MA1A2_HUMAN|.	D|C	620;154;59|187	ENSP00000348959:E620D;ENSP00000402416:E59D|.	ENSP00000358462:E154D|.	E|G	+|+	3|1	2|0	MAN1A2|MAN1A2	117867036|117867036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.425000|3.425000	0.52771|0.52771	1.531000|1.531000	0.49152|0.49152	0.555000|0.555000	0.69702|0.69702	GAG|GGC	MAN1A2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000198162		0.433	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	-	0	76	0	G	NM_006699		118065513	1	tier1	-	no_errors	ENST00000356554	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	T	T	118065513	G	T	118065513	3	4	58	1	0	0	0	0	1	0	0	0	9249	991	35	3	1910	3	MAN1A2	1	118065513	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	404499	118065513	131185108	129	14512											
GDAP2	54834	genome.wustl.edu	37	chr1	118430389	118430389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgcttgacataaccagcGattataactagggaaataaa	16	11	7	7	1	1	1	0	1	1	0	1	3	1	2	1	1	4	1	1	1	7	7	rs146263543		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:118430389G>A	ENST00000369443.5	-	9	1210	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	GDAP2_ENST00000369442.3_Missense_Mutation_p.R321C|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	321					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CATAACCAGCGATTATAACTA	0.318																																																	0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	71	77	75		961,961	5.5	1	1	dbSNP_134	75	0,8592		0,0,4296	no	missense,missense	GDAP2	NM_001135589.1,NM_017686.3	180,180	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	321/497,321/498	118430389	1,12997	2203	4296	6499	SO:0001583	missense	0			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.961C>T	1.37:g.118430389G>A	ENSP00000358451:p.Arg321Cys		Q96DZ0	Missense_Mutation	SNP	pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom	p.R321C	ENST00000369443.5	37	c.961	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663345	0.88251	2.27E-4	0.0	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.40476	1.29;1.03	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.69914	-0.5016	10	0.87932	D	0	-10.4536	19.3651	0.94459	0.0:0.0:1.0:0.0	.	321;321	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	C	321	ENSP00000358451:R321C;ENSP00000358450:R321C	ENSP00000358450:R321C	R	-	1	0	GDAP2	118231912	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.768000	0.91737	2.577000	0.86979	0.585000	0.79938	CGC	GDAP2	-	NULL	ENSG00000196505		0.318	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	HGNC	protein_coding	OTTHUMT00000033732.2	-	0	119	0	G	NM_017686		118430389	-1	tier1	rs146263543	no_errors	ENST00000369443	ensembl	human	known	74_37	missense	31.06	91	41	SNP	1.000	A	A	118430389	G	A	118430389	3	1	58	1	0	0	0	0	1	0	0	0	6334	1058	37	1	601	1	GDAP2	1	118430389	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	364876	118430389	130820232	130	14513											
SPAG17	200162	genome.wustl.edu	37	chr1	118539226	118539226	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtattattcttttacctgggGacatgttcaccatagatttg	9	17	8	7	0	2	1	1	0	1	1	2	2	2	2	2	2	1	2	2	2	4	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:118539226G>T	ENST00000336338.5	-	33	4982	c.4917C>A	c.(4915-4917)gtC>gtA	p.V1639V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1639						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTACCTGGGGACATGTTCAC	0.299																																																	0													77	78	78					1																	118539226		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4917C>A	1.37:g.118539226G>T			Q8NAZ1|Q9NT21	Silent	SNP	NULL	p.V1639	ENST00000336338.5	37	c.4917	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.299	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0	29	0	G	NM_206996		118539226	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.996	T	T	118539226	G	T	118539226	2	4	58	1	0	0	0	0	0	0	0	1	15026	1161	41	3		3	SPAG17	1	118539226	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	108837	118539226	130711395	131	14514											
HSD3B1	3283	genome.wustl.edu	37	chr1	120054190	120054190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgagccattcctgaaGagagcctgccaggacgtctc	9	8	12	12	1	1	3	0	2	1	1	3	6	2	5	4	2	3	0	4	2	1	1	rs138025303	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:120054190G>T	ENST00000369413.3	+	3	355	c.210G>T	c.(208-210)aaG>aaT	p.K70N	HSD3B1_ENST00000528909.1_Missense_Mutation_p.K70N|HSD3B1_ENST00000235547.6_Missense_Mutation_p.K72N			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	70					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CATTCCTGAAGAGAGCCTGCC	0.483																																																	0													100	93	95					1																	120054190		2203	4300	6503	SO:0001583	missense	0			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.210G>T	1.37:g.120054190G>T	ENSP00000358421:p.Lys70Asn		A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.K72N	ENST00000369413.3	37	c.216	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224613	0.06061	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	3.27	-2.95	0.05564	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.623726	0.16959	N	0.192566	T	0.60470	0.2271	M	0.65975	2.015	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.20384	0.012;0.029	T	0.48875	-0.8996	10	0.22706	T	0.39	-8.5627	2.1981	0.03916	0.2278:0.438:0.1983:0.136	.	72;70	Q5TDG2;P14060	.;3BHS1_HUMAN	N	70;70;72;70	ENSP00000435999:K70N;ENSP00000358421:K70N;ENSP00000235547:K72N;ENSP00000432268:K70N	ENSP00000235547:K72N	K	+	3	2	HSD3B1	119855713	0.000000	0.05858	0.099000	0.21106	0.011000	0.07611	0.078000	0.14761	-0.182000	0.10602	-0.339000	0.08088	AAG	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	ENSG00000203857		0.483	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3	-	0	102	0	G	NM_000862		120054190	1	tier1	-	no_errors	ENST00000235547	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.132	T	T	120054190	G	T	120054190	3	4	58	1	0	0	0	0	1	0	0	0	7417	933	33	3	216	3	HSD3B1	1	120054190	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1514964	120054190	129196431	132	14515											
NBPF10	100132406	genome.wustl.edu	37	chr1	145367737	145367737	+	Frame_Shift_Del	DEL	A	A	-																															ttgaaaagaaggggaaggggAaaaaaagaaggggaagaaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145367737delA	ENST00000342960.5	+	83	10368	c.10333delA	c.(10333-10335)aaafs	p.K3446fs	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggggaaggggaaaaaaagaag	0.413																																																	0																																										SO:0001589	frameshift_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10333delA	1.37:g.145367737delA	ENSP00000345684:p.Lys3446fs		Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	pfam_NBPF_dom	p.R3447fs	ENST00000342960.5	37	c.10333	CCDS53355.1	1																																																																																			NBPF10	-	NULL	ENSG00000163386		0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding			0	86	0	A	NM_001039703		145367737	1	tier1		no_errors	ENST00000342960	ensembl	human	known	74_37	frame_shift_del	14.07	116	19	DEL	0.003	-	-	145367737	A	-	145367737	7	5	58	1	0	1	0	1	0	0	0	0	10231	247	9	0	10663	0	NBPF10	1	145367737	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	25313547	145367737	103882884	133	14516											
ITGA10	8515	genome.wustl.edu	37	chr1	145532467	145532467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttaggtccttggtcActacctccggcggcagcgag	6	9	12	14	3	2	0	1	0	1	0	4	2	4	0	4	4	2	1	4	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145532467A>G	ENST00000369304.3	+	9	1095	c.920A>G	c.(919-921)cAc>cGc	p.H307R	ITGA10_ENST00000538811.1_Missense_Mutation_p.H176R|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Missense_Mutation_p.H164R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	307	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCTTGGTCACTACCTCCGG	0.468																																																	0													116	111	113					1																	145532467		2203	4300	6503	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.920A>G	1.37:g.145532467A>G	ENSP00000358310:p.His307Arg		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H307R	ENST00000369304.3	37	c.920	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463215	0.63513	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.54866	0.55;0.55;0.55	5.12	3.91	0.45181	von Willebrand factor, type A (3);	0.130080	0.51477	D	0.000087	T	0.41073	0.1143	N	0.13140	0.3	0.50467	D	0.999871	D;D;D;D	0.71674	0.988;0.988;0.998;0.99	P;P;D;D	0.81914	0.877;0.877;0.995;0.925	T	0.40459	-0.9562	10	0.38643	T	0.18	.	10.0693	0.42324	0.8314:0.1686:0.0:0.0	.	273;176;164;307	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	R	307;273;164;176	ENSP00000358310:H307R;ENSP00000439894:H164R;ENSP00000440011:H176R	ENSP00000358310:H307R	H	+	2	0	ITGA10	144243824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.745000	0.74860	2.080000	0.62538	0.459000	0.35465	CAC	ITGA10	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000143127		0.468	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	-	0	29	0	A	NM_003637		145532467	1	tier1	-	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	66.67	10	20	SNP	1.000	G	G	145532467	A	G	145532467	3	3	58	1	0	0	0	0	1	0	0	0	7900	159	6	4	954	4	ITGA10	1	145532467	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	164730	145532467	103718154	134	14517											
ANKRD35	148741	genome.wustl.edu	37	chr1	145562534	145562534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctggtggatcggcaccGggaggcccagcaggtgctgg	6	5	17	13	2	0	0	0	0	0	0	1	2	0	2	3	7	2	3	3	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145562534G>A	ENST00000355594.4	+	10	2309	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	741										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATCGGCACCGGGAGGCCCAG	0.652																																					Melanoma(9;127 754 22988 51047)												0													13	15	15					1																	145562534		2196	4295	6491	SO:0001583	missense	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2222G>A	1.37:g.145562534G>A	ENSP00000347802:p.Arg741Gln		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R741Q	ENST00000355594.4	37	c.2222	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	G	1.817	-0.473109	0.04445	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.54479	0.57	4.98	-0.699	0.11277	.	0.762865	0.11631	N	0.544781	T	0.14399	0.0348	L	0.44542	1.39	0.09310	N	0.999999	B	0.21452	0.056	B	0.16289	0.015	T	0.21724	-1.0237	10	0.14252	T	0.57	-0.7802	3.0279	0.06097	0.2893:0.0:0.3735:0.3372	.	741	Q8N283	ANR35_HUMAN	Q	650;741	ENSP00000347802:R741Q	ENSP00000347802:R741Q	R	+	2	0	ANKRD35	144273891	0.000000	0.05858	0.559000	0.28332	0.189000	0.23516	0.128000	0.15810	0.008000	0.14787	-0.926000	0.02714	CGG	ANKRD35	-	NULL	ENSG00000198483		0.652	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	-	0	60	0	G	NM_144698		145562534	1	tier1	-	no_errors	ENST00000355594	ensembl	human	known	74_37	missense	47.06	27	24	SNP	0.052	A	A	145562534	G	A	145562534	3	1	58	1	0	0	0	0	1	0	0	0	664	1116	39	1	2260	1	ANKRD35	1	145562534	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	30067	145562534	103688087	135	14518											
ANKRD35	148741	genome.wustl.edu	37	chr1	145562653	145562653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccccccaagtggccGctctggagcaagacctgggg	8	5	13	15	1	1	1	0	0	1	1	2	2	2	2	5	4	2	3	5	4	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145562653G>T	ENST00000355594.4	+	10	2428	c.2341G>T	c.(2341-2343)Gct>Tct	p.A781S		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	781										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAAGTGGCCGCTCTGGAGCA	0.627																																					Melanoma(9;127 754 22988 51047)												0													11	13	12					1																	145562653		2156	4251	6407	SO:0001583	missense	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"Ankyrin repeat domain containing"	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2341G>T	1.37:g.145562653G>T	ENSP00000347802:p.Ala781Ser		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A781S	ENST00000355594.4	37	c.2341	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029444	0.75504	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.55234	0.53	5.22	5.22	0.72569	.	0.000000	0.50627	D	0.000107	T	0.55545	0.1927	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.48670	-0.9015	10	0.16896	T	0.51	-9.4225	14.1487	0.65367	0.0:0.0:1.0:0.0	.	781	Q8N283	ANR35_HUMAN	S	690;781	ENSP00000347802:A781S	ENSP00000347802:A781S	A	+	1	0	ANKRD35	144274010	0.985000	0.35326	0.963000	0.40424	0.844000	0.47949	4.141000	0.58038	2.703000	0.92315	0.655000	0.94253	GCT	ANKRD35	-	NULL	ENSG00000198483		0.627	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	-	0	80	0	G	NM_144698		145562653	1	tier1	-	no_errors	ENST00000355594	ensembl	human	known	74_37	missense	42.11	33	24	SNP	0.988	T	T	145562653	G	T	145562653	3	4	58	1	0	0	0	0	1	0	0	0	664	1087	38	2	2379	2	ANKRD35	1	145562653	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	119	145562653	103687968	136	14519											
CD160	11126	genome.wustl.edu	37	chr1	145704302	145704302	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacagattaagtttagtcGcgttccttcctgggaagctg	9	13	11	8	2	0	1	0	0	0	1	3	2	2	2	2	1	2	4	2	1	4	6	rs149851492		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145704302G>A	ENST00000369288.2	-	4	332	c.115C>T	c.(115-117)Cga>Tga	p.R39*	CD160_ENST00000235933.6_Nonsense_Mutation_p.R39*|CD160_ENST00000401557.3_Nonsense_Mutation_p.R39*|CD160_ENST00000369290.1_Intron	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	39	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R39*(1)		endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AAGTTTAGTCGCGTTCCTTCC	0.463																																					Colon(182;1122 1999 4065 44014 53024)												1	Substitution - Nonsense(1)	endometrium(1)						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	88	84	85		115	-1.7	0	1	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained	CD160	NM_007053.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		39/182	145704302	4,13002	2203	4300	6503	SO:0001587	stop_gained	0			AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"CD molecules"	17013	protein-coding gene	gene with protein product		604463	"CD160 antigen"			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.115C>T	1.37:g.145704302G>A	ENSP00000358294:p.Arg39*			Nonsense_Mutation	SNP	NULL	p.R39*	ENST00000369288.2	37	c.115	CCDS923.1	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561362	0.27915	2.27E-4	3.49E-4	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	.	.	.	4.34	-1.66	0.08265	.	1.509220	0.04434	N	0.369716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.1234	3.9657	0.09431	0.1994:0.0:0.2932:0.5074	.	.	.	.	X	39	.	ENSP00000235933:R39X	R	-	1	2	CD160	144415659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	-0.114000	0.11936	-0.261000	0.10672	CGA	CD160	-	NULL	ENSG00000117281		0.463	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CD160	HGNC	protein_coding	OTTHUMT00000038532.2	-	0	58	0	G	NM_007053		145704302	-1	tier1	rs149851492	no_errors	ENST00000235933	ensembl	human	known	74_37	nonsense	31.91	32	15	SNP	0.000	A	A	145704302	G	A	145704302	4	1	58	1	0	0	0	0	0	1	0	0	2973	1095	38	1	442	1	CD160	1	145704302	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	141649	145704302	103546319	137	14520											
GPR89A	653519	genome.wustl.edu	37	chr1	145811901	145811901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtaaaatacttacgtagtCggatattgctcacaataaaa	16	11	8	6	2	1	0	1	0	0	0	2	1	1	1	0	2	3	3	0	2	9	7	rs587615888		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145811901C>T	ENST00000313835.9	-	4	451	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	GPR89A_ENST00000454423.3_5'UTR|GPR89A_ENST00000534502.1_Missense_Mutation_p.R78Q|GPR89A_ENST00000462900.2_Missense_Mutation_p.R78Q			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	103					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CTTACGTAGTCGGATATTGCT	0.368													C|||	1	0.000199681	0	0	5008	,	,		15919	0		0.001	False		,,,				2504	0																0													119	128	125					1																	145811901		2203	4299	6502	SO:0001583	missense	0			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.308G>A	1.37:g.145811901C>T	ENSP00000319673:p.Arg103Gln		A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.R103Q	ENST00000313835.9	37	c.308	CCDS41377.1	1	.	.	.	.	.	.	.	.	.	.	.	9.114	1.007266	0.19199	.	.	ENSG00000117262	ENST00000313835;ENST00000534502;ENST00000462900	.	.	.	3.59	2.65	0.31530	.	0.149182	0.45606	N	0.000344	T	0.27384	0.0672	M	0.62016	1.91	0.80722	D	1	B;B	0.20052	0.041;0.041	B;B	0.08055	0.003;0.003	T	0.15378	-1.0439	9	0.10111	T	0.7	-0.476	8.0251	0.30431	0.0:0.8672:0.0:0.1328	.	103;103	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	Q	103;78;78	.	ENSP00000319673:R103Q	R	-	2	0	GPR89A	144523258	1.000000	0.71417	0.998000	0.56505	0.350000	0.29205	2.601000	0.46249	0.589000	0.29677	0.195000	0.17529	CGA	GPR89A	-	NULL	ENSG00000117262		0.368	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89A	HGNC	protein_coding	OTTHUMT00000038507.2	-	0	35	0	C	NM_001097612		145811901	-1	tier1	-	no_errors	ENST00000313835	ensembl	human	known	74_37	missense	32.73	37	18	SNP	1.000	T	T	145811901	C	T	145811901	3	4	58	1	0	0	0	0	1	0	0	0	6744	884	31	1	1103	1	GPR89A	1	145811901	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	107599	145811901	103438720	138	14521											
NBPF14	25832	genome.wustl.edu	37	chr1	148010136	148010136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcatgatgggtcttggtcTtcttccacttcttggtactt	4	17	11	9	0	4	1	0	1	4	0	5	1	5	1	1	4	1	2	1	4	1	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:148010136T>G	ENST00000369219.1	-	15	1783	c.1767A>C	c.(1765-1767)gaA>gaC	p.E589D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	589	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGTCTTGGTCTTCTTCCACTT	0.418																																																	0													43	82	71					1																	148010136		840	2170	3010	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1767A>C	1.37:g.148010136T>G	ENSP00000358221:p.Glu589Asp		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.E589D	ENST00000369219.1	37	c.1767		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.598|9.598	1.127953|1.127953	0.20959|0.20959	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701;ENST00000444640	T|.	0.14640|.	2.49|.	0.253|0.253	0.253|0.253	0.15551|0.15551	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.24044|0.24044	0.0582|0.0582	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	B;B;D;P|.	0.67145|.	0.44;0.44;0.996;0.543|.	P;P;D;B|.	0.66847|.	0.523;0.523;0.947;0.306|.	T|T	0.25572|0.25572	-1.0128|-1.0128	8|4	0.35671|.	T|.	0.21|.	.|.	.|.	.|.	.|.	.|.	703;589;610;116|.	Q8IX74;Q5TI25;Q5VTG7;Q8IX75|.	.;NBPFE_HUMAN;.;.|.	D|T	589;12|595;356	ENSP00000358221:E589D|.	ENSP00000358221:E589D|.	E|K	-|-	3|2	2|0	NBPF14|NBPF14	146476760|146476760	0.994000|0.994000	0.37717|0.37717	0.006000|0.006000	0.13384|0.13384	0.006000|0.006000	0.05464|0.05464	0.661000|0.661000	0.25023|0.25023	0.324000|0.324000	0.23333|0.23333	0.318000|0.318000	0.21364|0.21364	GAA|AAG	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.418	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding			0	76	0	T	NM_015383		148010136	-1			no_errors	ENST00000369219	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.007	G	G	148010136	T	G	148010136	3	3	58	1	0	0	0	0	1	0	0	0	10233	1606	56	4	1030	4	NBPF14	1	148010136	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2198235	148010136	101240485	139	14522											
ECM1	1893	genome.wustl.edu	37	chr1	150483621	150483621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagattggatattccCgctgctgccactgccgcagc	6	10	11	14	2	0	1	0	0	0	1	2	3	2	2	4	2	4	3	4	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:150483621C>T	ENST00000369047.4	+	6	780	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	ECM1_ENST00000369049.4_Missense_Mutation_p.R246C|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.R219C	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	219	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.R219S(1)|p.R246S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGATATTCCCGCTGCTGCCA	0.557																																					Melanoma(156;1696 2560 11093 19685)												2	Substitution - Missense(2)	lung(2)											86	93	90					1																	150483621		2203	4300	6503	SO:0001583	missense	0			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.655C>T	1.37:g.150483621C>T	ENSP00000358043:p.Arg219Cys		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.R246C	ENST00000369047.4	37	c.736	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282383	0.80692	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.81579	-1.51;-1.51;-1.51	5.04	5.04	0.67666	.	0.434898	0.23710	N	0.045338	D	0.85539	0.5720	M	0.64997	1.995	0.50632	D	0.999885	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.996;0.999	D	0.86704	0.1931	10	0.87932	D	0	-23.5299	13.7487	0.62894	0.0:1.0:0.0:0.0	.	141;148;246;219;219;219	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	C	246;219;219	ENSP00000358045:R246C;ENSP00000358043:R219C;ENSP00000271630:R219C	ENSP00000271630:R219C	R	+	1	0	ECM1	148750245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.260000	0.51523	2.640000	0.89533	0.655000	0.94253	CGC	ECM1	-	pfam_ECM1,superfamily_Serum_albumin-like	ENSG00000143369		0.557	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	-	0	72	0	C	NM_004425		150483621	1	tier1	-	no_errors	ENST00000369049	ensembl	human	known	74_37	missense	28.21	56	22	SNP	1.000	T	T	150483621	C	T	150483621	3	4	58	1	0	0	0	0	1	0	0	0	4911	652	23	1	677	1	ECM1	1	150483621	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2473485	150483621	98767000	140	14523											
ANXA9	8416	genome.wustl.edu	37	chr1	150955885	150955885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggacaaggatgcgcagagGctactgagggccattactgg	10	7	16	8	1	0	2	0	1	0	1	0	4	0	4	1	5	3	2	1	5	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:150955885G>T	ENST00000368947.4	+	4	623	c.147G>T	c.(145-147)agG>agT	p.R49S	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	49					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCGCAGAGGCTACTGAGGG	0.597																																																	0													56	42	47					1																	150955885		2203	4300	6503	SO:0001583	missense	0			AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.147G>T	1.37:g.150955885G>T	ENSP00000357943:p.Arg49Ser		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI	p.R49S	ENST00000368947.4	37	c.147	CCDS975.2	1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628644	0.28978	.	.	ENSG00000143412	ENST00000368947	T	0.03386	3.95	5.06	3.13	0.36017	.	0.185143	0.47455	D	0.000237	T	0.01870	0.0059	L	0.56124	1.755	0.33746	D	0.620051	P	0.43938	0.822	B	0.40825	0.341	T	0.50398	-0.8833	10	0.44086	T	0.13	.	7.1974	0.25860	0.2092:0.0:0.7908:0.0	.	49	O76027	ANXA9_HUMAN	S	49	ENSP00000357943:R49S	ENSP00000357943:R49S	R	+	3	2	ANXA9	149222509	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.929000	0.28844	1.342000	0.45619	0.563000	0.77884	AGG	ANXA9	-	pfam_Annexin_repeat,prints_AnnexinXXXI	ENSG00000143412		0.597	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA9	HGNC	protein_coding	OTTHUMT00000084895.2	-	0	41	0	G	NM_003568		150955885	1	tier1	-	no_errors	ENST00000368947	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	150955885	G	T	150955885	3	4	58	1	0	0	0	0	1	0	0	0	725	1194	42	3	153	3	ANXA9	1	150955885	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	472264	150955885	98294736	141	14524											
ZNF687	57592	genome.wustl.edu	37	chr1	151259034	151259035	+	Frame_Shift_Del	DEL	TG	TG	-																															agtgtcattgtcaagaacacTgtgtgtcccgagcagtctga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151259034_151259035delTG	ENST00000368879.2	+	2	365_366	c.267_268delTG	c.(265-270)actgtgfs	p.V90fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAAGAACACTGTGTGTCCCGA	0.614																																																	0																																										SO:0001589	frameshift_variant	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.267_268delTG	1.37:g.151259038_151259039delTG	ENSP00000357874:p.Val90fs		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C91fs	ENST00000368879.2	37	c.267_268		1																																																																																			ZNF687	-	NULL	ENSG00000143373		0.614	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding			0	38	0	TG	NM_020832		151259035	1			no_errors	ENST00000324048	ensembl	human	known	74_37	frame_shift_del	16.22	31	6	DEL	0.998:1.000	0	-	151259035	TG	-	151259034	7	5	58	1	0	1	0	1	0	0	0	0	18140	1567	55	0	269	0	ZNF687	1	151259034	Frame_Shift_Del	DEL	TG	TCGA-L5-A4OI-01A-11D-A27G-09	303149	151259034	97991587	142	14525											
CGN	57530	genome.wustl.edu	37	chr1	151491588	151491588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggcccggggtcggactgGccgccgaacacggatgctac	7	4	15	15	5	0	0	0	0	0	0	1	3	0	2	4	6	3	1	4	6	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151491588G>T	ENST00000271636.7	+	2	726	c.593G>T	c.(592-594)gGc>gTc	p.G198V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	192	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTCGGACTGGCCGCCGAACA	0.617																																																	0													83	95	91					1																	151491588		2203	4300	6503	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.593G>T	1.37:g.151491588G>T	ENSP00000271636:p.Gly198Val		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.G198V	ENST00000271636.7	37	c.593	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849319	0.51270	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.74421	0.49;-0.84	5.18	5.18	0.71444	.	0.400222	0.28796	N	0.014113	T	0.79534	0.4462	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.78427	-0.2208	9	.	.	.	-28.2604	12.1803	0.54208	0.0:0.1715:0.8285:0.0	.	192	Q9P2M7	CING_HUMAN	V	198	ENSP00000410836:G198V;ENSP00000271636:G198V	.	G	+	2	0	CGN	149758212	1.000000	0.71417	0.998000	0.56505	0.110000	0.19582	3.853000	0.55941	2.873000	0.98535	0.561000	0.74099	GGC	CGN	-	NULL	ENSG00000143375		0.617	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3		0	42	0	G	NM_020770		151491588	1			no_errors	ENST00000271636	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	151491588	G	T	151491588	3	4	58	1	0	0	0	0	1	0	0	0	3310	1203	42	3	595	3	CGN	1	151491588	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	232554	151491588	97759033	143	14526											
TDRKH	11022	genome.wustl.edu	37	chr1	151753980	151753980	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaatattggctccttgccGgccaatgatgagtttcacag	9	14	9	9	1	1	2	1	2	0	0	2	2	2	2	3	2	1	2	3	2	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151753980G>T	ENST00000368822.1	-	3	841	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	TDRKH_ENST00000368825.3_Silent_p.R70R|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Silent_p.R70R|TDRKH_ENST00000368823.1_Silent_p.R70R|TDRKH_ENST00000368827.6_Silent_p.R70R|TDRKH_ENST00000458431.2_Silent_p.R70R|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	70	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCTTGCCGGCCAATGATG	0.463																																																	0													123	122	122					1																	151753980		1909	4135	6044	SO:0001819	synonymous_variant	0			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.208C>A	1.37:g.151753980G>T			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.R70	ENST00000368822.1	37	c.208	CCDS41394.1	1																																																																																			TDRKH	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000182134		0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2		0	22	0	G	NM_006862		151753980	-1			no_errors	ENST00000368822	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.980	T	T	151753980	G	T	151753980	2	4	58	1	0	0	0	0	0	0	0	1	15784	1115	39	2		2	TDRKH	1	151753980	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	262392	151753980	97496641	144	14527											
TCHH	7062	genome.wustl.edu	37	chr1	152081168	152081168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctctggttcctgactgcGcagttcctgttcgcggaatt	4	15	10	12	3	2	1	0	1	2	0	6	2	4	2	2	2	1	4	2	2	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152081168G>A	ENST00000368804.1	-	2	4524	c.4525C>T	c.(4525-4527)Cgc>Tgc	p.R1509C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1509	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACTGCGCAGTTCCTGT	0.572																																																	0													80	79	80					1																	152081168		1887	4115	6002	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4525C>T	1.37:g.152081168G>A	ENSP00000357794:p.Arg1509Cys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1509C	ENST00000368804.1	37	c.4525	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	-	6.354	0.433484	0.12045	.	.	ENSG00000159450	ENST00000368804	T	0.08282	3.11	3.06	-1.64	0.08318	.	.	.	.	.	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	P	0.48764	0.915	B	0.35182	0.197	T	0.46871	-0.9160	9	0.56958	D	0.05	.	4.6281	0.12488	0.3358:0.1629:0.5013:0.0	.	1509	Q07283	TRHY_HUMAN	C	1509	ENSP00000357794:R1509C	ENSP00000357794:R1509C	R	-	1	0	TCHH	150347792	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.272000	0.08560	-0.259000	0.09432	0.195000	0.17529	CGC	TCHH	-	NULL	ENSG00000159450		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	85	0	G	NM_007113		152081168	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	26.47	75	27	SNP	0.001	A	A	152081168	G	A	152081168	3	1	58	1	0	0	0	0	1	0	0	0	15747	1087	38	1	1310	1	TCHH	1	152081168	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	327188	152081168	97169453	145	14528											
TCHH	7062	genome.wustl.edu	37	chr1	152084242	152084242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagccaacgttcgcgcCtctcctcctcctggtcgcgc	3	10	9	19	5	2	0	1	0	1	0	7	0	4	0	5	1	2	2	5	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152084242C>A	ENST00000368804.1	-	2	1450	c.1451G>T	c.(1450-1452)aGg>aTg	p.R484M		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	484	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTTCGCGCCTctcctcctc	0.667																																																	0													64	71	69					1																	152084242		2133	4240	6373	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1451G>T	1.37:g.152084242C>A	ENSP00000357794:p.Arg484Met		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R484M	ENST00000368804.1	37	c.1451	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	6.904	0.536405	0.13188	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	2.87	-0.592	0.11671	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.52881	0.712	T	0.40664	-0.9551	9	0.51188	T	0.08	.	6.1599	0.20358	0.0:0.458:0.0:0.542	.	484	Q07283	TRHY_HUMAN	M	484	ENSP00000357794:R484M	ENSP00000357794:R484M	R	-	2	0	TCHH	150350866	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.797000	0.01749	0.063000	0.16370	0.394000	0.25966	AGG	TCHH	-	NULL	ENSG00000159450		0.667	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	201	0	C	NM_007113		152084242	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	30.54	140	62	SNP	0.000	A	A	152084242	C	A	152084242	3	1	58	1	0	0	0	0	1	0	0	0	15747	681	24	3	4384	3	TCHH	1	152084242	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3074	152084242	97166379	146	14529											
HRNR	388697	genome.wustl.edu	37	chr1	152187631	152187631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacccatgctgaccataGcgggaagacgaacctgagct	12	5	11	13	2	0	4	0	2	0	2	0	6	0	5	4	1	4	2	4	1	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152187631G>A	ENST00000368801.2	-	3	6549	c.6474C>T	c.(6472-6474)cgC>cgT	p.R2158R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACCATAGCGGGAAGACG	0.612																																																	0													341	384	369					1																	152187631		2199	4280	6479	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6474C>T	1.37:g.152187631G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R2158	ENST00000368801.2	37	c.6474	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	430	0	G	XM_373868		152187631	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	5.68	413	25	SNP	0.003	A	A	152187631	G	A	152187631	2	1	58	1	0	0	0	0	0	0	0	1	7386	958	34	3		3	HRNR	1	152187631	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	103389	152187631	97062990	147	14530											
HRNR	388697	genome.wustl.edu	37	chr1	152189041	152189041	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacccatgctgaccataGcgggaagacgaacgtgagct	12	5	12	12	3	0	4	0	2	0	2	0	6	0	5	3	1	4	2	3	1	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152189041G>A	ENST00000368801.2	-	3	5139	c.5064C>T	c.(5062-5064)cgC>cgT	p.R1688R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1688					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACCATAGCGGGAAGACG	0.617																																																	0													69	73	71					1																	152189041		1651	3215	4866	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5064C>T	1.37:g.152189041G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1688	ENST00000368801.2	37	c.5064	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	80	0	G	XM_373868		152189041	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	11.76	60	8	SNP	0.003	A	A	152189041	G	A	152189041	2	1	58	1	0	0	0	0	0	0	0	1	7386	958	34	3		3	HRNR	1	152189041	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1410	152189041	97061580	148	14531											
HRNR	388697	genome.wustl.edu	37	chr1	152192466	152192466	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaccagactcatgtcGgccacggctagggctaggag	9	6	14	12	2	1	1	1	0	0	1	2	3	1	3	3	5	1	2	3	5	3	2	rs142288299		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152192466G>A	ENST00000368801.2	-	3	1714	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	547					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R547*(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCATGTCGGCCACGGCTA	0.587																																																	2	Substitution - Nonsense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	147	156	153		1639	1.7	0	1	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	HRNR	NM_001009931.1		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		547/2851	152192466	3,13003	2203	4300	6503	SO:0001587	stop_gained	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1639C>T	1.37:g.152192466G>A	ENSP00000357791:p.Arg547*		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R547*	ENST00000368801.2	37	c.1639	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648708	0.87958	2.27E-4	2.33E-4	ENSG00000197915	ENST00000368801	.	.	.	2.72	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	6.7027	0.23234	0.0:0.0:0.7188:0.2812	.	.	.	.	X	547	.	ENSP00000357791:R547X	R	-	1	2	HRNR	150459090	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.731000	0.26058	0.440000	0.26502	0.549000	0.68633	CGA	HRNR	-	NULL	ENSG00000197915		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	154	0	G	XM_373868		152192466	-1	tier1	rs142288299	no_errors	ENST00000368801	ensembl	human	known	74_37	nonsense	36.09	85	48	SNP	0.004	A	A	152192466	G	A	152192466	4	1	58	1	0	0	0	0	0	1	0	0	7386	1124	39	1	6917	1	HRNR	1	152192466	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3425	152192466	97058155	149	14532											
FLG	2312	genome.wustl.edu	37	chr1	152277634	152277634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgccttgactgctcctgaAcagatccacgatggtttctg	7	12	10	12	2	1	3	0	2	1	1	3	4	3	3	3	1	3	2	3	1	1	2	rs3126068	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152277634A>G	ENST00000368799.1	-	3	9763	c.9728T>C	c.(9727-9729)gTt>gCt	p.V3243A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3243	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCTGAACAGATCCACG	0.587									Ichthyosis				G|||	4	0.000798722	0	0	5008	,	,		19744	0		0	False		,,,				2504	0.0041																0													226	231	229					1																	152277634		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9728T>C	1.37:g.152277634A>G	ENSP00000357789:p.Val3243Ala		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.V3243A	ENST00000368799.1	37	c.9728	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185308	0.09495	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01572	4.76	3.64	-5.71	0.02413	.	.	.	.	.	T	0.00109	0.0003	N	0.00563	-1.375	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.41734	-0.9492	9	0.02654	T	1	.	1.8475	0.03162	0.4569:0.2279:0.1898:0.1254	.	3243	P20930	FILA_HUMAN	A	3243;181	ENSP00000357789:V3243A	ENSP00000357786:V181A	V	-	2	0	FLG	150544258	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.775000	0.00187	-1.805000	0.01239	-2.321000	0.00252	GTT	FLG	-	NULL	ENSG00000143631		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	164	0	A	NM_002016		152277634	-1	tier1	rs3126068	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	24.20	166	53	SNP	0.000	G	G	152277634	A	G	152277634	3	3	58	1	0	0	0	0	1	0	0	0	5944	43	2	4	2461	4	FLG	1	152277634	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	85168	152277634	96972987	150	14533											
FLG	2312	genome.wustl.edu	37	chr1	152283692	152283692	+	Missense_Mutation	SNP	T	T	C																															ggagccgtctcctgattgttTgtccttacgagtttgtctgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152283692T>C	ENST00000368799.1	-	3	3705	c.3670A>G	c.(3670-3672)Aaa>Gaa	p.K1224E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1224	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTTGTCCTTACGA	0.562									Ichthyosis																																								0													348	340	343					1																	152283692		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3670A>G	1.37:g.152283692T>C	ENSP00000357789:p.Lys1224Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.K1224E	ENST00000368799.1	37	c.3670	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	4.296	0.054185	0.08291	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	1.94	-0.48	0.12085	.	.	.	.	.	T	0.00109	0.0003	N	0.00049	-2.42	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	9	0.02654	T	1	.	5.7003	0.17879	0.0:0.489:0.0:0.511	.	1224	P20930	FILA_HUMAN	E	1224	ENSP00000357789:K1224E	ENSP00000357789:K1224E	K	-	1	0	FLG	150550316	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.469000	0.02348	-0.489000	0.06716	-1.128000	0.01989	AAA	FLG	-	NULL	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	210	0	T	NM_002016		152283692	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	22.84	223	66	SNP	0.000	C	C	152283692	T	C	152283692	3	2	58	1	0	0	0	0	1	0	0	0	5944	1821	63	4	8519	4	FLG	1	152283692	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	6058	152283692	96966929	151	14534	57	2									
FLG	2312	genome.wustl.edu	37	chr1	152283696	152283696	+	Missense_Mutation	SNP	C	C	G																															ccgtctcctgattgtttgtcCttacgagtttgtctgcttgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152283696C>G	ENST00000368799.1	-	3	3701	c.3666G>C	c.(3664-3666)aaG>aaC	p.K1222N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1222	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTGTCCTTACGAGTTT	0.567									Ichthyosis																																								0													353	344	347					1																	152283696		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3666G>C	1.37:g.152283696C>G	ENSP00000357789:p.Lys1222Asn		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.K1222N	ENST00000368799.1	37	c.3666	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.442443	0.00012	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	0.387	-0.774	0.10991	.	.	.	.	.	T	0.00109	0.0003	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	8	0.16420	T	0.52	.	.	.	.	.	1222	P20930	FILA_HUMAN	N	1222	ENSP00000357789:K1222N	ENSP00000357789:K1222N	K	-	3	2	FLG	150550320	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.987000	0.00659	-3.802000	0.00105	-3.107000	0.00063	AAG	FLG	-	NULL	ENSG00000143631		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	213	0	C	NM_002016		152283696	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	23.51	231	71	SNP	0.000	G	G	152283696	C	G	152283696	3	3	58	1	0	0	0	0	1	0	0	0	5944	680	24	5	8523	5	FLG	1	152283696	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4	152283696	96966925	152	14535	57	2									
CRCT1	54544	genome.wustl.edu	37	chr1	152488094	152488094	+	Frame_Shift_Del	DEL	G	G	-																															gtagtggttgctgctgctgcGggggcggcagccagaggtcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152488094delG	ENST00000368790.3	+	2	308	c.235delG	c.(235-237)gggfs	p.G81fs		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	81	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGCTGCGGGGGCGGCAG	0.682																																																	0													5	6	6					1																	152488094		1776	3721	5497	SO:0001589	frameshift_variant	0			AJ243662	CCDS1012.1	1q21	2008-02-05	2006-12-18	2006-12-18	ENSG00000169509	ENSG00000169509			29875	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 42"	C1orf42		11230159	Standard	NM_019060		Approved	NICE-1	uc001ezz.3	Q9UGL9	OTTHUMG00000012391	ENST00000368790.3:c.235delG	1.37:g.152488094delG	ENSP00000357779:p.Gly81fs		A4QN00|Q6IAD7	Frame_Shift_Del	DEL	NULL	p.G80fs	ENST00000368790.3	37	c.235	CCDS1012.1	1																																																																																			CRCT1	-	NULL	ENSG00000169509		0.682	CRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCT1	HGNC	protein_coding	OTTHUMT00000034511.1		0	14	0	G	NM_019060		152488094	1	tier1		no_errors	ENST00000368790	ensembl	human	known	74_37	frame_shift_del	42.86	12	9	DEL	0.677	-	-	152488094	G	-	152488094	7	5	58	1	0	1	0	1	0	0	0	0	3860	1116	39	0	237	0	CRCT1	1	152488094	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	204398	152488094	96762527	153	14536											
IVL	3713	genome.wustl.edu	37	chr1	152883089	152883089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcaccaggaggggcaGctggaggtcccagaggagca	10	3	18	10	0	0	1	0	0	0	1	1	5	1	5	2	7	3	4	2	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152883089G>T	ENST00000368764.3	+	2	880	c.816G>T	c.(814-816)caG>caT	p.Q272H	IVL_ENST00000392667.2_Missense_Mutation_p.Q126H			P07476	INVO_HUMAN	involucrin	272	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aggaggggcagcTGGAGGTCC	0.642																																																	0													14	14	14					1																	152883089		2045	4002	6047	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.816G>T	1.37:g.152883089G>T	ENSP00000357753:p.Gln272His		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q272H	ENST00000368764.3	37	c.816	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494047	0.26774	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10288	2.98;2.89	3.62	2.66	0.31614	.	.	.	.	.	T	0.10423	0.0255	L	0.44542	1.39	0.09310	N	1	D	0.61080	0.989	D	0.63488	0.915	T	0.12477	-1.0546	9	0.45353	T	0.12	.	10.7486	0.46196	0.0:0.1962:0.8038:0.0	.	272	P07476	INVO_HUMAN	H	272;126	ENSP00000357753:Q272H;ENSP00000376435:Q126H	ENSP00000357753:Q272H	Q	+	3	2	IVL	151149713	0.107000	0.21998	0.004000	0.12327	0.050000	0.14768	1.026000	0.30103	0.592000	0.29728	0.194000	0.17425	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.642	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	98	0	G	NM_005547		152883089	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	21.71	101	28	SNP	0.120	T	T	152883089	G	T	152883089	3	4	58	1	0	0	0	0	1	0	0	0	7956	962	34	3	818	3	IVL	1	152883089	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	394995	152883089	96367532	154	14537											
SLC27A3	11000	genome.wustl.edu	37	chr1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-																															tggcagccctagttctgcgtCccccccacgctttggacctt																								rs572408453	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:153751860delC	ENST00000368661.3	+	9	1992	c.1927delC	c.(1927-1929)cccfs	p.P644fs	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Frame_Shift_Del_p.P725fs	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	644					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTTCTGCGTCCCCCCCACGC	0.617													|||unknown(LONG_INSERTION)	4	0.000798722	0	0.0043	5008	,	,		17653	0.001		0	False		,,,				2504	0																0										8,16,4240		0,0,8,7,2,2115	121	105	111			-6	1	1		111	5,23,8226		0,0,5,10,3,4109	no	codingComplex	SLC27A3	NM_024330.1		0,0,13,17,5,6224	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3392,0.5629,0.4154			153751860	13,39,12466	2203	4300	6503	SO:0001589	frameshift_variant	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"Acyl-CoA synthetase family", "Solute carriers"	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1927delC	1.37:g.153751860delC	ENSP00000357650:p.Pro644fs		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig	p.H645fs	ENST00000368661.3	37	c.1927	CCDS1053.1	1																																																																																			SLC27A3	-	NULL	ENSG00000143554		0.617	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding			0	68	0	C	NM_024330		153751860	1	tier1		no_errors	ENST00000368661	ensembl	human	known	74_37	frame_shift_del	39.71	41	27	DEL	0.247	-	-	153751860	C	-	153751860	7	5	58	1	0	1	0	1	0	0	0	0	14572	855	30	0	1961	0	SLC27A3	1	153751860	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	868771	153751860	95498761	155	14538											
NUP210L	91181	genome.wustl.edu	37	chr1	153965404	153965404	+	Frame_Shift_Del	DEL	A	A	-																															gggggagaacttgtggagttAaaaaaacctagaagaagagg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:153965404delA	ENST00000368559.3	-	40	5645	c.5574delT	c.(5572-5574)tttfs	p.F1858fs	NUP210L_ENST00000368553.1_Frame_Shift_Del_p.F639fs|NUP210L_ENST00000271854.3_Frame_Shift_Del_p.F1706fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1858				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345). {ECO:0000305}.	Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTGGAGTTAAAAAAACCTA	0.438																																																	0													151	147	148					1																	153965404		1864	4081	5945	SO:0001589	frameshift_variant	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5574delT	1.37:g.153965404delA	ENSP00000357547:p.Phe1858fs		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Frame_Shift_Del	DEL	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.F1858fs	ENST00000368559.3	37	c.5574	CCDS41399.1	1																																																																																			NUP210L	-	NULL	ENSG00000143552		0.438	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3		0	66	0	A	NM_207308		153965404	-1	tier1		no_errors	ENST00000368559	ensembl	human	known	74_37	frame_shift_del	27.96	67	26	DEL	0.000	-	-	153965404	A	-	153965404	7	5	58	1	0	1	0	1	0	0	0	0	10800	359	13	0	96	0	NUP210L	1	153965404	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	213544	153965404	95285217	156	14539	58	2									
NUP210L	91181	genome.wustl.edu	37	chr1	153965412	153965412	+	Splice_Site	SNP	C	C	A																															acttgtggagttaaaaaaacCtagaagaagagggaaaagtt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:153965412C>A	ENST00000368559.3	-	40	5638		c.e40-1		NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like						Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTAAAAAAACCTAGAAGAAGA	0.433																																																	0													147	143	144					1																	153965412		1868	4082	5950	SO:0001630	splice_region_variant	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5567-1G>T	1.37:g.153965412C>A			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Splice_Site	SNP	-	e40-1	ENST00000368559.3	37	c.5567-1	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247325	0.39697	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7635	0.51918	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210L	152232036	1.000000	0.71417	0.632000	0.29296	0.127000	0.20565	3.338000	0.52128	2.123000	0.65237	0.585000	0.79938	.	NUP210L	-	-	ENSG00000143552		0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	-	0	58	0	C	NM_207308	Intron	153965412	-1	tier1	-	no_errors	ENST00000368559	ensembl	human	known	74_37	splice_site	31.25	65	30	SNP	0.930	A	A	153965412	C	A	153965412	5	1	58	1	0	0	0	0	0	0	1	0	10800	695	24	3	104	3	NUP210L	1	153965412	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8	153965412	95285209	157	14540	58	2									
UBAP2L	9898	genome.wustl.edu	37	chr1	154233427	154233427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccccggccacaaccttgGcccaaccccaacagaaccag	12	2	7	20	1	0	1	0	0	0	1	0	1	0	1	8	2	5	0	8	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154233427G>T	ENST00000361546.2	+	22	2680	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A891S|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A880S|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A880S|SNORA58_ENST00000364259.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	880					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAACCTTGGCCCAACCCCA	0.597																																																	0													77	77	77					1																	154233427		2203	4300	6503	SO:0001583	missense	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2638G>T	1.37:g.154233427G>T	ENSP00000355343:p.Ala880Ser		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A880S	ENST00000361546.2	37	c.2638	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.380113|4.380113	0.82682|0.82682	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546|ENST00000433615;ENST00000428595	T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44726|0.44726	0.1307|0.1307	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;B|.	0.67145|.	0.534;0.996;0.996;0.996;0.984;0.99;0.361|.	P;D;D;D;D;D;P|.	0.77557|.	0.542;0.99;0.986;0.986;0.956;0.971;0.464|.	T|T	0.33317|0.33317	-0.9873|-0.9873	10|5	0.49607|.	T|.	0.09|.	-13.0253|-13.0253	17.9549|17.9549	0.89065|0.89065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	794;891;873;880;376;880;880|.	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157|.	.;.;.;.;.;.;UBP2L_HUMAN|.	S|V	880;880;376;376;891;880|210;158	ENSP00000345308:A880S;ENSP00000389445:A880S;ENSP00000271877:A891S;ENSP00000355343:A880S|.	ENSP00000271877:A891S|.	A|G	+|+	1|2	0|0	UBAP2L|UBAP2L	152500051|152500051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.263000|9.263000	0.95617|0.95617	2.715000|2.715000	0.92844|0.92844	0.555000|0.555000	0.69702|0.69702	GCC|GGC	UBAP2L	-	NULL	ENSG00000143569		0.597	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1		0	43	0	G	NM_014847		154233427	1			no_errors	ENST00000361546	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	154233427	G	T	154233427	3	4	58	1	0	0	0	0	1	0	0	0	16887	1203	42	3	2724	3	UBAP2L	1	154233427	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	268015	154233427	95017194	158	14541											
AQP10	89872	genome.wustl.edu	37	chr1	154296077	154296077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccaaggttctgggcactGggatgctgattgtggggctc	6	11	15	9	0	1	1	0	1	1	0	3	2	2	2	1	5	1	4	1	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154296077G>T	ENST00000324978.3	+	5	542	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.G168W|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	168					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGGGCACTGGGATGCTGAT	0.592																																																	0													128	136	133					1																	154296077		2203	4300	6503	SO:0001583	missense	0			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"Ion channels / Aquaporins"	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.502G>T	1.37:g.154296077G>T	ENSP00000318355:p.Gly168Trp		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.G168W	ENST00000324978.3	37	c.502	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	G	6.180	0.401470	0.11696	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85171	-1.95;-1.95	4.8	-1.24	0.09435	Aquaporin-like (2);	0.261596	0.36200	N	0.002726	T	0.61060	0.2317	L	0.41492	1.28	0.09310	N	1	B;B	0.19445	0.036;0.011	B;B	0.23574	0.047;0.023	T	0.58521	-0.7622	10	0.62326	D	0.03	.	7.6749	0.28480	0.0834:0.0:0.3604:0.5563	.	168;168	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	W	168	ENSP00000318355:G168W;ENSP00000420341:G168W	ENSP00000318355:G168W	G	+	1	0	AQP10	152562701	0.073000	0.21202	0.000000	0.03702	0.352000	0.29268	1.960000	0.40422	-0.412000	0.07519	0.555000	0.69702	GGG	AQP10	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000143595		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	-	0	125	0	G	NM_080429		154296077	1	tier1	-	no_errors	ENST00000324978	ensembl	human	known	74_37	missense	25.16	119	40	SNP	0.000	T	T	154296077	G	T	154296077	3	4	58	1	0	0	0	0	1	0	0	0	822	1348	47	3	520	3	AQP10	1	154296077	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	62650	154296077	94954544	159	14542											
SHE	126669	genome.wustl.edu	37	chr1	154474190	154474190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctgcaggctgtcgcGggacagccggctgtccttgg	5	7	15	14	3	0	1	0	0	0	1	2	2	1	2	3	4	2	3	3	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154474190G>A	ENST00000304760.2	-	1	399	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	TDRD10_ENST00000368482.4_5'Flank|TDRD10_ENST00000368480.3_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	105										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGCTGTCGCGGGACAGCCGG	0.746																																																	0													8	9	9					1																	154474190		2153	4224	6377	SO:0001583	missense	0			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.313C>T	1.37:g.154474190G>A	ENSP00000307369:p.Arg105Cys		Q8TEQ5	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R105C	ENST00000304760.2	37	c.313	CCDS30877.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433460	0.83776	.	.	ENSG00000169291	ENST00000304760	T	0.32988	1.43	4.48	4.48	0.54585	.	0.492803	0.18810	N	0.130546	T	0.20455	0.0492	N	0.24115	0.695	0.44762	D	0.997762	D	0.76494	0.999	P	0.50490	0.642	T	0.03898	-1.0994	10	0.72032	D	0.01	-32.9285	14.7045	0.69179	0.0:0.0:1.0:0.0	.	105	Q5VZ18	SHE_HUMAN	C	105	ENSP00000307369:R105C	ENSP00000307369:R105C	R	-	1	0	SHE	152740814	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	2.642000	0.46596	2.314000	0.78098	0.556000	0.70494	CGC	SHE	-	NULL	ENSG00000169291		0.746	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2		0	13	0	G	NM_001010846		154474190	-1			no_errors	ENST00000304760	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	A	A	154474190	G	A	154474190	3	1	58	1	0	0	0	0	1	0	0	0	14321	1116	39	1	1198	1	SHE	1	154474190	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	178113	154474190	94776431	160	14543											
CHRNB2	1141	genome.wustl.edu	37	chr1	154544175	154544175	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgtgcctcccacctccctCgacgtgccgctcgtcggcaa	5	8	9	19	6	0	0	0	0	0	0	6	1	2	0	5	1	2	2	5	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154544175C>T	ENST00000368476.3	+	5	1140	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	292					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CCACCTCCCTCGACGTGCCGC	0.602																																																	0													182	137	152					1																	154544175		2203	4300	6503	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.876C>T	1.37:g.154544175C>T			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L292	ENST00000368476.3	37	c.876	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000160716		0.602	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0	49	0	C	NM_000748		154544175	1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	29.63	38	16	SNP	0.886	T	T	154544175	C	T	154544175	2	4	58	1	0	0	0	0	0	0	0	1	3398	871	31	1		1	CHRNB2	1	154544175	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	69985	154544175	94706446	161	14544											
PYGO2	90780	genome.wustl.edu	37	chr1	154932071	154932071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccataggattgggagggaaGgggggtggctgtcgacggag	8	6	21	6	2	0	0	0	0	0	0	1	5	0	4	1	8	0	1	1	8	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154932071G>A	ENST00000368457.2	-	3	576	c.405C>T	c.(403-405)ccC>ccT	p.P135P	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_Silent_p.P98P|PYGO2_ENST00000483463.1_5'Flank	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	135	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGGAGGGAAGGGGGGTGGCT	0.667																																					NSCLC(87;357 1460 1955 21029 23522)												0													25	30	28					1																	154932071		2200	4300	6500	SO:0001819	synonymous_variant	0			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"Zinc fingers, PHD-type"	30257	protein-coding gene	gene with protein product		606903	"pygopus homolog 2 (Drosophila)"			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.405C>T	1.37:g.154932071G>A			Q8WYZ4|Q96CY2	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P135	ENST00000368457.2	37	c.405	CCDS1075.1	1																																																																																			PYGO2	-	NULL	ENSG00000163348		0.667	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	HGNC	protein_coding	OTTHUMT00000090949.1		0	12	0	G	NM_138300		154932071	-1			no_errors	ENST00000368457	ensembl	human	known	74_37	silent	9.52	15	2	SNP	0.991	A	A	154932071	G	A	154932071	2	1	58	1	0	0	0	0	0	0	0	1	12909	987	35	3		3	PYGO2	1	154932071	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	387896	154932071	94318550	162	14545											
ZBTB7B	51043	genome.wustl.edu	37	chr1	154987852	154987852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaggaggaggaggtggCgggcagagtgggcagcagtg	9	5	22	5	1	0	2	0	1	0	1	0	5	0	5	0	7	1	3	0	7	1	1	rs372544089		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154987852C>T	ENST00000368426.3	+	3	853	c.716C>T	c.(715-717)gCg>gTg	p.A239V	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.A239V|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.A239V|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.A273V	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	239					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGGAGGTGGCGGGCAGAGTG	0.652																																																	0								C	VAL/ALA	0,4406		0,0,2203	20	23	22		716	0.9	0	1		22	1,8595		0,1,4297	no	missense	ZBTB7B	NM_015872.2	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	239/540	154987852	1,13001	2203	4298	6501	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.716C>T	1.37:g.154987852C>T	ENSP00000357411:p.Ala239Val		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A273V	ENST00000368426.3	37	c.818	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.027027	0.08054	0.0	1.16E-4	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09255	3.03;3.03;3.0;3.03	4.15	0.893	0.19236	.	1.305210	0.05217	N	0.507890	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46582	-0.9181	10	0.24483	T	0.36	.	6.6	0.22695	0.0:0.4712:0.0:0.5288	.	239;239;273	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	V	239;239;273;239	ENSP00000438647:A239V;ENSP00000357411:A239V;ENSP00000406286:A273V;ENSP00000292176:A239V	ENSP00000292176:A239V	A	+	2	0	ZBTB7B	153254476	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	0.024000	0.13555	-0.010000	0.14271	-0.362000	0.07510	GCG	ZBTB7B	-	NULL	ENSG00000160685		0.652	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1		0	21	0	C	NM_015872		154987852	1			no_errors	ENST00000417934	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.000	T	T	154987852	C	T	154987852	3	4	58	1	0	0	0	0	1	0	0	0	17602	768	27	1	718	1	ZBTB7B	1	154987852	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	55781	154987852	94262769	163	14546											
ADAM15	8751	genome.wustl.edu	37	chr1	155032745	155032745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattggtcctggtgatgctTggtgccagctactggtaccg	5	14	13	9	1	0	1	0	1	0	0	1	1	1	1	3	4	5	3	3	4	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155032745T>C	ENST00000356955.2	+	18	2234	c.2133T>C	c.(2131-2133)ctT>ctC	p.L711L	ADAM15_ENST00000368410.2_Silent_p.L417L|ADAM15_ENST00000271836.6_Silent_p.L711L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Silent_p.L721L|ADAM15_ENST00000359280.4_Silent_p.L711L|ADAM15_ENST00000368413.1_Silent_p.L417L|ADAM15_ENST00000449910.2_Silent_p.L711L|ADAM15_ENST00000355956.2_Silent_p.L711L|ADAM15_ENST00000360674.4_Silent_p.L711L|ADAM15_ENST00000368412.3_Silent_p.L711L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	711					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTGATGCTTGGTGCCAGCT	0.617																																																	0													63	56	58					1																	155032745		2203	4300	6503	SO:0001819	synonymous_variant	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"ADAM metallopeptidase domain containing"	193	protein-coding gene	gene with protein product	"metargidin"	605548	"a disintegrin and metalloproteinase domain 15 (metargidin)"			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2133T>C	1.37:g.155032745T>C			B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L711	ENST00000356955.2	37	c.2133	CCDS1087.1	1																																																																																			ADAM15	-	NULL	ENSG00000143537		0.617	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	-	0	36	0	T	NM_003815		155032745	1	tier1	-	no_errors	ENST00000356955	ensembl	human	known	74_37	silent	32.50	27	13	SNP	1.000	C	C	155032745	T	C	155032745	2	2	58	1	0	0	0	0	0	0	0	1	237	1799	63	4		4	ADAM15	1	155032745	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	44893	155032745	94217876	164	14547											
TRIM46	80128	genome.wustl.edu	37	chr1	155150676	155150676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggctatgcccaggaagtaCttaaggaaacagaccagcct	13	7	11	10	0	0	1	0	0	0	1	0	3	0	3	3	3	4	2	3	3	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155150676C>T	ENST00000334634.4	+	6	1108	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	TRIM46_ENST00000392451.2_Missense_Mutation_p.L370F|TRIM46_ENST00000543729.1_Missense_Mutation_p.L377F|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.L347F|TRIM46_ENST00000368383.3_Missense_Mutation_p.L370F|TRIM46_ENST00000545012.1_Missense_Mutation_p.L244F|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.L370F	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	370	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGGAAGTACTTAAGGAAAC	0.612																																																	0													33	35	34					1																	155150676		2203	4300	6503	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1108C>T	1.37:g.155150676C>T	ENSP00000334657:p.Leu370Phe		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.L370F	ENST00000334634.4	37	c.1108	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491266	0.64074	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.60672	0.23;0.95;0.95;0.17;0.95;0.95;0.95	3.59	2.68	0.31781	COS domain (1);	0.187722	0.35378	N	0.003254	T	0.65080	0.2657	M	0.78637	2.42	0.43372	D	0.99546	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.97110	1.0;0.986;1.0;0.994	T	0.69022	-0.5255	10	0.87932	D	0	.	8.9974	0.36061	0.0:0.8861:0.0:0.1139	.	370;347;370;370	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	F	377;328;370;244;370;370;347;370	ENSP00000442719:L377F;ENSP00000357369:L370F;ENSP00000440254:L244F;ENSP00000376245:L370F;ENSP00000357367:L370F;ENSP00000357366:L347F;ENSP00000334657:L370F	ENSP00000334657:L370F	L	+	1	0	TRIM46	153417300	1.000000	0.71417	0.626000	0.29213	0.987000	0.75469	7.196000	0.77805	0.857000	0.35407	0.313000	0.20887	CTT	TRIM46	-	NULL	ENSG00000163462		0.612	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	-	0	56	0	C	NM_025058		155150676	1	tier1	-	no_errors	ENST00000334634	ensembl	human	known	74_37	missense	31.25	44	20	SNP	0.994	T	T	155150676	C	T	155150676	3	4	58	1	0	0	0	0	1	0	0	0	16569	565	20	3	1130	3	TRIM46	1	155150676	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	117931	155150676	94099945	165	14548											
THBS3	7059	genome.wustl.edu	37	chr1	155166890	155166890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgataggaggtcttgtcccGccagcccacatttcgtgggt	6	10	13	12	3	1	0	0	0	1	0	3	2	2	1	3	3	1	0	3	3	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155166890G>A	ENST00000368378.3	-	21	2634	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	THBS3_ENST00000541576.1_Missense_Mutation_p.R269W|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R401W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCTTGTCCCGCCAGCCCACA	0.622																																																	0													90	80	83					1																	155166890		2203	4300	6503	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2614C>T	1.37:g.155166890G>A	ENSP00000357362:p.Arg872Trp		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R872W	ENST00000368378.3	37	c.2614	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908421	0.72868	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.54	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.374331	0.22104	N	0.064572	D	0.88633	0.6489	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.61658	0.892;0.849;0.849;0.849	D	0.89704	0.3907	10	0.87932	D	0	-10.671	9.8486	0.41043	0.0:0.0:0.627:0.373	.	752;872;872;872	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	W	872;269;752;401	ENSP00000357362:R872W;ENSP00000444792:R269W;ENSP00000392207:R752W;ENSP00000437353:R401W	ENSP00000357362:R872W	R	-	1	2	THBS3	153433514	0.998000	0.40836	0.996000	0.52242	0.963000	0.63663	2.659000	0.46741	1.237000	0.43756	0.591000	0.81541	CGG	THBS3	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000169231		0.622	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	-	0	97	0	G	NM_007112		155166890	-1	tier1	-	no_errors	ENST00000368378	ensembl	human	known	74_37	missense	19.35	75	18	SNP	1.000	A	A	155166890	G	A	155166890	3	1	58	1	0	0	0	0	1	0	0	0	15902	1086	38	1	268	1	THBS3	1	155166890	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	16214	155166890	94083731	166	14549											
MTX1	4580	genome.wustl.edu	37	chr1	155180357	155180357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaactctgcctgcccttcGgaccagtcatggagaggtca	9	8	12	12	1	3	1	2	0	1	1	4	4	3	3	3	4	3	0	3	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155180357G>A	ENST00000368376.3	+	3	723	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000457183.2_5'Flank|THBS3_ENST00000486260.1_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.R206Q|MTX1_ENST00000609421.1_Missense_Mutation_p.R57Q|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000541990.1_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	206					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)		p.R206Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGCCCTTCGGACCAGTCAT	0.493																																																	1	Substitution - Missense(1)	lung(1)											209	197	201					1																	155180357		2203	4300	6503	SO:0001583	missense	0				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.617G>A	1.37:g.155180357G>A	ENSP00000357360:p.Arg206Gln		B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like	p.R206Q	ENST00000368376.3	37	c.617	CCDS1100.1	1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580483	0.65992	.	.	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.34667	1.43;1.35	5.8	1.91	0.25777	.	0.215245	0.42548	N	0.000681	T	0.24470	0.0593	L	0.34521	1.04	0.35083	D	0.763603	D;D	0.76494	0.996;0.999	P;P	0.60886	0.75;0.88	T	0.05566	-1.0877	10	0.39692	T	0.17	-24.7551	7.4666	0.27324	0.4038:0.0:0.5962:0.0	.	206;206	Q13505-2;Q13505	.;MTX1_HUMAN	Q	206	ENSP00000357360:R206Q;ENSP00000317106:R206Q	ENSP00000317106:R206Q	R	+	2	0	MTX1	153446981	0.998000	0.40836	0.992000	0.48379	0.970000	0.65996	0.943000	0.29030	0.397000	0.25310	-0.253000	0.11424	CGG	MTX1	-	pfam_Sam37/metaxin	ENSG00000173171		0.493	MTX1-001	KNOWN	basic|CCDS	protein_coding	MTX1	HGNC	protein_coding	OTTHUMT00000086844.1	-	0	101	0	G	NM_198883		155180357	1	tier1	-	no_errors	ENST00000368376	ensembl	human	known	74_37	missense	32.54	84	41	SNP	0.982	A	A	155180357	G	A	155180357	3	1	58	1	0	0	0	0	1	0	0	0	10005	1116	39	1	627	1	MTX1	1	155180357	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	13467	155180357	94070264	167	14550											
GON4L	54856	genome.wustl.edu	37	chr1	155823541	155823541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtagggactctgtcaCtgtagttcttctcttcttac	6	17	8	10	0	5	0	1	0	4	0	6	1	5	1	0	1	2	4	0	1	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155823541C>T	ENST00000368331.1	-	2	79	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	GON4L_ENST00000437809.1_Missense_Mutation_p.V11M|GON4L_ENST00000271883.5_Missense_Mutation_p.V11M|GON4L_ENST00000361040.5_Missense_Mutation_p.V11M|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	11					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GACTCTGTCACTGTAGTTCTT	0.378																																																	0													94	87	89					1																	155823541		2203	4300	6503	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.31G>A	1.37:g.155823541C>T	ENSP00000357315:p.Val11Met		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.V11M	ENST00000368331.1	37	c.31		1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632699	0.29068	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.15834	2.58;2.58;2.58;2.39	4.38	-0.305	0.12784	.	0.838313	0.10008	N	0.727560	T	0.04363	0.0120	L	0.32530	0.975	0.09310	N	1	P;B;B	0.35628	0.513;0.255;0.372	B;B;B	0.37422	0.249;0.127;0.249	T	0.38887	-0.9640	10	0.72032	D	0.01	.	3.2484	0.06806	0.2893:0.4623:0.1549:0.0934	.	11;11;11	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	M	11	ENSP00000396117:V11M;ENSP00000357315:V11M;ENSP00000271883:V11M;ENSP00000354322:V11M	ENSP00000271883:V11M	V	-	1	0	GON4L	154090165	0.000000	0.05858	0.175000	0.22980	0.786000	0.44442	-0.389000	0.07342	0.099000	0.17552	0.561000	0.74099	GTG	GON4L	-	NULL	ENSG00000116580		0.378	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0	92	0	C	NM_032292		155823541	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	28.57	85	34	SNP	0.001	T	T	155823541	C	T	155823541	3	4	58	1	0	0	0	0	1	0	0	0	6598	565	20	3	6932	3	GON4L	1	155823541	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	643184	155823541	93427080	168	14551											
MEX3A	92312	genome.wustl.edu	37	chr1	156051672	156051672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagttgatcgagagccaGctgaagggcgcgctcgtctt	8	8	15	10	4	1	4	0	2	1	2	3	5	1	4	1	1	2	4	1	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156051672G>A	ENST00000532414.2	-	1	117	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	MEX3A_ENST00000442784.1_5'Flank|LMNA_ENST00000368301.2_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	40						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCGAGAGCCAGCTGAAGGGCG	0.672																																																	0													18	19	19					1																	156051672		1366	2750	4116	SO:0001819	synonymous_variant	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	33482	protein-coding gene	gene with protein product		611007	"ring finger and KH domain containing 4", "mex-3 homolog A (C. elegans)"	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.118C>T	1.37:g.156051672G>A				Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.L40	ENST00000532414.2	37	c.118	CCDS53377.1	1																																																																																			MEX3A	-	NULL	ENSG00000254726		0.672	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	-	0	26	0	G	NM_001093725		156051672	-1	tier1	-	no_errors	ENST00000532414	ensembl	human	known	74_37	silent	24.39	31	10	SNP	0.984	A	A	156051672	G	A	156051672	2	1	58	1	0	0	0	0	0	0	0	1	9547	962	34	3		3	MEX3A	1	156051672	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	228131	156051672	93198949	169	14552											
LMNA	4000	genome.wustl.edu	37	chr1	156106205	156106205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagggcaagtttgtccGgctgcgcaacaagtccaatg	10	8	14	9	2	0	1	0	1	0	0	2	2	2	2	2	3	2	4	2	3	4	1	rs267607598		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156106205G>A	ENST00000368300.4	+	7	1570	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	LMNA_ENST00000347559.2_Missense_Mutation_p.R453Q|LMNA_ENST00000368297.1_Missense_Mutation_p.R372Q|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000448611.2_Missense_Mutation_p.R341Q|LMNA_ENST00000473598.2_Missense_Mutation_p.R354Q|LMNA_ENST00000368299.3_Missense_Mutation_p.R453Q|LMNA_ENST00000392353.3_Missense_Mutation_p.R372Q|LMNA_ENST00000368301.2_Missense_Mutation_p.R453Q|LMNA_ENST00000361308.4_Missense_Mutation_p.R453Q	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	453	LTD.|Tail.		R -> P (in MDCL). {ECO:0000269|PubMed:18551513}.|R -> W (in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type). {ECO:0000269|PubMed:10080180, ECO:0000269|PubMed:10739764, ECO:0000269|PubMed:10939567, ECO:0000269|PubMed:11503164, ECO:0000269|PubMed:14684700, ECO:0000269|PubMed:20848652}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AAGTTTGTCCGGCTGCGCAAC	0.597									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																								0			GRCh37	CM083716	LMNA	M							48	53	52					1																	156106205		2198	4292	6490	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"Intermediate filaments type V, lamins"	6636	protein-coding gene	gene with protein product		150330	"cardiomyopathy, dilated 1A (autosomal dominant)", "limb girdle muscular dystrophy 1B (autosomal dominant)", "progeria 1 (Hutchinson-Gilford type)", "lamin A/C-like 1"	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1358G>A	1.37:g.156106205G>A	ENSP00000357283:p.Arg453Gln		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.R453Q	ENST00000368300.4	37	c.1358	CCDS1129.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062183	0.76187	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	D;D;D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	5.74	5.74	0.90152	Intermediate filament, C-terminal (1);	0.000000	0.52532	D	0.000070	D	0.97636	0.9225	L	0.39147	1.195	0.80722	D	1	P;P;D;P;D;D;P;D	0.76494	0.909;0.473;0.982;0.909;0.999;0.998;0.797;0.977	B;B;P;B;P;P;B;B	0.60949	0.261;0.093;0.493;0.191;0.881;0.788;0.046;0.36	D	0.97437	1.0019	10	0.41790	T	0.15	.	17.4233	0.87520	0.0:0.0:1.0:0.0	.	109;341;453;354;372;453;453;453	B4DFR3;E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;.;LMNA_HUMAN;.;.	Q	453;453;453;453;453;341;372;354;372;79	ENSP00000357284:R453Q;ENSP00000292304:R453Q;ENSP00000355292:R453Q;ENSP00000357283:R453Q;ENSP00000357282:R453Q;ENSP00000395597:R341Q;ENSP00000357280:R372Q;ENSP00000421821:R354Q;ENSP00000376164:R372Q;ENSP00000424977:R79Q	ENSP00000292304:R453Q	R	+	2	0	LMNA	154372829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.685000	0.61693	2.695000	0.91970	0.655000	0.94253	CGG	LMNA	-	pfam_Lamin_tail_dom	ENSG00000160789		0.597	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	HGNC	protein_coding	OTTHUMT00000039200.2	-	0	122	0	G	NM_170707		156106205	1	tier1	-	no_errors	ENST00000368300	ensembl	human	known	74_37	missense	6.14	106	7	SNP	1.000	A	A	156106205	G	A	156106205	3	1	58	1	0	0	0	0	1	0	0	0	8878	1116	39	1	1384	1	LMNA	1	156106205	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	54533	156106205	93144416	170	14553											
TTC24	164118	genome.wustl.edu	37	chr1	156552852	156552852	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgtggggcagcggtGggagcagggccggagctttg	5	7	21	8	2	1	0	0	0	1	0	1	2	1	2	1	7	3	4	1	7	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156552852G>A	ENST00000368237.3	+	3	929	c.929G>A	c.(928-930)tGg>tAg	p.W310*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.W310*|TTC24_ENST00000478081.1_Intron			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	310										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCAGCGGTGGGAGCAGGGC	0.652																																																	0													33	38	36					1																	156552852		2026	4167	6193	SO:0001587	stop_gained	0				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.929G>A	1.37:g.156552852G>A	ENSP00000357220:p.Trp310*		Q5T3H7	Nonsense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W310*	ENST00000368237.3	37	c.929	CCDS53379.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.573858|4.573858	0.86542|0.86542	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.72|4.72	2.69|2.69	0.31865|0.31865	.|.	.|1.037750	.|0.07641	.|N	.|0.930260	T|.	0.28566|.	0.0707|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16837|.	-1.0389|.	3|.	.|.	.|.	.|.	-3.288|-3.288	10.3591|10.3591	0.43982|0.43982	0.1907:0.0:0.8093:0.0|0.1907:0.0:0.8093:0.0	.|.	.|.	.|.	.|.	R|X	83;75|310	.|.	.|.	G|W	+|+	1|2	0|0	TTC24|TTC24	154819476|154819476	0.957000|0.957000	0.32711|0.32711	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.327000|1.327000	0.33746|0.33746	1.230000|1.230000	0.43646|0.43646	0.455000|0.455000	0.32223|0.32223	GGG|TGG	TTC24	-	pfscan_TPR-contain_dom	ENSG00000187862		0.652	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	-	0	73	0	G	XM_089384		156552852	1	tier1	-	no_errors	ENST00000368236	ensembl	human	known	74_37	nonsense	36.36	49	28	SNP	0.988	A	A	156552852	G	A	156552852	4	1	58	1	0	0	0	0	0	1	0	0	16741	1357	47	3	939	3	TTC24	1	156552852	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	446647	156552852	92697769	171	14554											
GPATCH4	54865	genome.wustl.edu	37	chr1	156571203	156571203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagggagccccttaccgTcattgctgggtccgctccgc	5	8	14	14	3	1	0	1	0	0	0	3	2	3	2	5	3	3	2	5	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156571203T>C	ENST00000438976.2	-	1	59	c.29A>G	c.(28-30)gAc>gGc	p.D10G	GPATCH4_ENST00000334588.7_5'UTR|GPATCH4_ENST00000368232.4_5'UTR|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	0							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCTTACCGTCATTGCTGGG	0.577																																																	0													39	42	41					1																	156571203		1890	4110	6000	SO:0001583	missense	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.29A>G	1.37:g.156571203T>C	ENSP00000396441:p.Asp10Gly		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.D10G	ENST00000438976.2	37	c.29	CCDS44245.1	1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467302	0.26335	.	.	ENSG00000160818	ENST00000438976	.	.	.	4.57	3.44	0.39384	.	.	.	.	.	T	0.13970	0.0338	N	0.08118	0	0.80722	D	1	B	0.30068	0.267	B	0.25291	0.059	T	0.05733	-1.0867	8	0.51188	T	0.08	.	6.8803	0.24168	0.0:0.1019:0.0:0.8981	.	10	E9PAV9	.	G	10	.	ENSP00000396441:D10G	D	-	2	0	GPATCH4	154837827	0.004000	0.15560	0.022000	0.16811	0.126000	0.20510	1.431000	0.34925	1.075000	0.40932	0.528000	0.53228	GAC	GPATCH4	-	NULL	ENSG00000160818		0.577	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1	-	0	38	0	T	NM_017725		156571203	-1	tier1	-	no_errors	ENST00000438976	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.007	C	C	156571203	T	C	156571203	3	2	58	1	0	0	0	0	1	0	0	0	6619	1667	58	4	1146	4	GPATCH4	1	156571203	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	18351	156571203	92679418	172	14555											
ETV3	2117	genome.wustl.edu	37	chr1	157094756	157094756	+	Frame_Shift_Del	DEL	G	G	-																															cgccgcttcaaccgaagcttGgggggcatcagtgcatcttc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:157094756delG	ENST00000368192.4	-	5	1480	c.1416delC	c.(1414-1416)cccfs	p.P472fs		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	472					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				ACCGAAGCTTGGGGGGCATCA	0.572																																																	0													54	50	51					1																	157094756		692	1591	2283	SO:0001589	frameshift_variant	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.1416delC	1.37:g.157094756delG	ENSP00000357175:p.Pro472fs		B4E3M7|Q8TAC8|Q9BX30	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K473fs	ENST00000368192.4	37	c.1416	CCDS44250.1	1																																																																																			ETV3	-	NULL	ENSG00000117036		0.572	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	HGNC	protein_coding	OTTHUMT00000082843.2		0	41	0	G	NM_005240		157094756	-1	tier1		no_errors	ENST00000368192	ensembl	human	known	74_37	frame_shift_del	23.21	43	13	DEL	0.991	-	-	157094756	G	-	157094756	7	5	58	1	0	1	0	1	0	0	0	0	5295	1335	47	0	126	0	ETV3	1	157094756	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	523553	157094756	92155865	173	14556											
FCRL3	115352	genome.wustl.edu	37	chr1	157660325	157660325	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggcgagacaccggaacTgagggaggaaaaatagttca	15	4	15	7	3	1	2	1	1	0	1	1	6	1	5	1	5	1	1	1	5	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:157660325T>C	ENST00000368184.3	-	9	1703		c.e9-2		RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_Splice_Site|FCRL3_ENST00000368186.5_Splice_Site	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACACCGGAACTGAGGGAGGAA	0.537																																																	1	Unknown(1)	lung(1)											33	37	36					1																	157660325		2203	4297	6500	SO:0001630	splice_region_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1412-2A>G	1.37:g.157660325T>C			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Splice_Site	SNP	-	e8-2	ENST00000368184.3	37	c.1430-2	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	T	5.348	0.249466	0.10130	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	.	.	.	4.47	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.922	0.29852	0.0:0.0:0.2094:0.7906	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL3	155926949	0.982000	0.34865	0.842000	0.33263	0.077000	0.17291	2.086000	0.41643	0.733000	0.32492	0.533000	0.62120	.	FCRL3	-	-	ENSG00000160856		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	29	0	T	NM_052939	Intron	157660325	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	splice_site	38.10	13	8	SNP	0.871	C	C	157660325	T	C	157660325	5	2	58	1	0	0	0	0	0	0	1	0	5818	1594	55	4	822	4	FCRL3	1	157660325	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	565569	157660325	91590296	174	14557											
CD5L	922	genome.wustl.edu	37	chr1	157805866	157805866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtcatcacacacggtgccCcactggcctttctgttccac	6	10	7	18	2	3	0	2	0	1	0	4	0	4	0	5	2	1	1	5	2	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:157805866C>A	ENST00000368174.4	-	3	231	c.135G>T	c.(133-135)tgG>tgT	p.W45C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	45	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACACGGTGCCCCACTGGCCTT	0.617																																																	0													99	97	97					1																	157805866		2203	4300	6503	SO:0001583	missense	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"apoptosis inhibitor 6", "CD5 antigen-like (scavenger receptor cysteine rich family)"	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.135G>T	1.37:g.157805866C>A	ENSP00000357156:p.Trp45Cys		A8K7M5|Q6UX63	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.W45C	ENST00000368174.4	37	c.135	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941063	0.53079	.	.	ENSG00000073754	ENST00000368174	T	0.55413	0.52	4.85	4.85	0.62838	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.42294	D	0.000735	D	0.82655	0.5084	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89908	0.4049	10	0.87932	D	0	.	15.5102	0.75776	0.0:1.0:0.0:0.0	.	45	O43866	CD5L_HUMAN	C	45	ENSP00000357156:W45C	ENSP00000357156:W45C	W	-	3	0	CD5L	156072490	1.000000	0.71417	0.933000	0.37362	0.019000	0.09904	7.253000	0.78320	2.503000	0.84419	0.563000	0.77884	TGG	CD5L	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	ENSG00000073754		0.617	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	-	0	41	0	C	NM_005894		157805866	-1	tier1	-	no_errors	ENST00000368174	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	A	A	157805866	C	A	157805866	3	1	58	1	0	0	0	0	1	0	0	0	3034	624	22	3	924	3	CD5L	1	157805866	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	145541	157805866	91444755	175	14558											
KIRREL	55243	genome.wustl.edu	37	chr1	158054356	158054356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacgcagcaggagggcgCtgtggccagcacggtgagct	7	4	19	11	4	0	1	0	1	0	0	0	3	0	3	1	5	3	5	1	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158054356C>T	ENST00000359209.6	+	4	564	c.497C>T	c.(496-498)gCt>gTt	p.A166V	KIRREL_ENST00000368172.1_5'Flank|KIRREL_ENST00000368173.3_Missense_Mutation_p.A166V|KIRREL_ENST00000416935.2_Missense_Mutation_p.A66V|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000360089.4_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	166	Ig-like C2-type 2.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGGAGGGCGCTGTGGCCAGC	0.662																																																	0													41	46	45					1																	158054356		692	1591	2283	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.497C>T	1.37:g.158054356C>T	ENSP00000352138:p.Ala166Val		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A166V	ENST00000359209.6	37	c.497	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315337	0.81358	.	.	ENSG00000183853	ENST00000368173;ENST00000359209;ENST00000416935	T;T;T	0.75938	-0.98;-0.98;-0.98	5.64	4.67	0.58626	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000626	T	0.71937	0.3399	M	0.70275	2.135	0.54753	D	0.999989	P;P	0.49447	0.783;0.924	P;P	0.52823	0.527;0.71	T	0.72805	-0.4182	10	0.40728	T	0.16	-20.2426	8.7528	0.34629	0.1684:0.6689:0.1626:0.0	.	66;166	B4DN67;Q96J84	.;KIRR1_HUMAN	V	166;166;66	ENSP00000357155:A166V;ENSP00000352138:A166V;ENSP00000389674:A66V	ENSP00000352138:A166V	A	+	2	0	KIRREL	156320980	1.000000	0.71417	0.610000	0.28997	0.782000	0.44232	4.523000	0.60545	2.665000	0.90641	0.557000	0.71058	GCT	KIRREL	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000183853		0.662	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0	67	0	C	NM_018240		158054356	1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	missense	23.64	41	13	SNP	0.989	T	T	158054356	C	T	158054356	3	4	58	1	0	0	0	0	1	0	0	0	8351	797	28	3	511	3	KIRREL	1	158054356	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	248490	158054356	91196265	176	14559											
KIRREL	55243	genome.wustl.edu	37	chr1	158064153	158064153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctgcgctgcgacaccatCgacacccgggaggagtatga	10	5	13	13	4	0	1	0	1	0	0	1	6	0	3	3	2	2	2	3	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158064153C>T	ENST00000359209.6	+	14	1837	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	KIRREL_ENST00000368172.1_Silent_p.I404I|KIRREL_ENST00000368173.3_Silent_p.I606I|KIRREL_ENST00000416935.2_Silent_p.I490I|KIRREL_ENST00000392272.2_Silent_p.I487I|KIRREL_ENST00000360089.4_Silent_p.I426I			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	590					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCGACACCATCGACACCCGGG	0.602																																																	0													50	45	47					1																	158064153		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1770C>T	1.37:g.158064153C>T			Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I606	ENST00000359209.6	37	c.1818	CCDS1172.2	1																																																																																			KIRREL	-	NULL	ENSG00000183853		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0	28	0	C	NM_018240		158064153	1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	silent	30.00	35	15	SNP	0.270	T	T	158064153	C	T	158064153	2	4	58	1	0	0	0	0	0	0	0	1	8351	874	31	1		1	KIRREL	1	158064153	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	9797	158064153	91186468	177	14560											
OR10X1	128367	genome.wustl.edu	37	chr1	158549366	158549366	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctacaacctgtgactgaAatgcttctgtccttggccag	10	11	9	11	0	1	2	0	2	1	0	2	2	2	2	3	1	4	2	3	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158549366A>G	ENST00000368150.1	-	1	323	c.324T>C	c.(322-324)atT>atC	p.I108I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGTGACTGAAATGCTTCTGT	0.483																																																	0													99	99	99					1																	158549366		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"GPCR / Class A : Olfactory receptors"	14995	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily X, member 1"	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.324T>C	1.37:g.158549366A>G			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I108	ENST00000368150.1	37	c.324	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186400		0.483	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0	82	0	A	NM_001004477		158549366	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	5.75	82	5	SNP	0.982	G	G	158549366	A	G	158549366	2	3	58	1	0	0	0	0	0	0	0	1	10961	10	1	4		4	OR10X1	1	158549366	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	485213	158549366	90701255	178	14561											
SPTA1	6708	genome.wustl.edu	37	chr1	158623217	158623217	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaccttccaccagtccTgaagggagagcagatcccca	10	7	8	16	0	0	3	0	1	0	2	4	4	4	3	7	1	1	1	7	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158623217T>C	ENST00000368147.4	-	22	3217		c.e22-2			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACCAGTCCTGAAGGGAGAG	0.532																																																	0													69	69	69					1																	158623217		2018	4173	6191	SO:0001630	splice_region_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3037-2A>G	1.37:g.158623217T>C			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	-	e22-2	ENST00000368147.4	37	c.3037-2	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147322	0.57151	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7384	0.62833	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156889841	1.000000	0.71417	0.947000	0.38551	0.549000	0.35272	7.219000	0.78000	2.127000	0.65507	0.533000	0.62120	.	SPTA1	-	-	ENSG00000163554		0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	36	0	T	NM_003126	Intron	158623217	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	splice_site	39.02	25	16	SNP	1.000	C	C	158623217	T	C	158623217	5	2	58	1	0	0	0	0	0	0	1	0	15163	1594	55	4	4348	4	SPTA1	1	158623217	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	73851	158623217	90627404	179	14562											
OR10J1	26476	genome.wustl.edu	37	chr1	159410055	159410055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgattgtagcaataacGcaagtgacatctgtattcag	12	11	11	7	1	2	2	1	2	1	0	2	2	2	2	0	1	2	5	0	1	5	5	rs149860482	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159410055G>A	ENST00000423932.3	+	1	544	c.507G>A	c.(505-507)acG>acA	p.T169T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	169					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TAGCAATAACGCAAGTGACAT	0.502																																																	0													170	157	162					1																	159410055		2203	4300	6503	SO:0001819	synonymous_variant	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.507G>A	1.37:g.159410055G>A			Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T169	ENST00000423932.3	37	c.507	CCDS1185.1	1																																																																																			OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196184		0.502	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0	90	0	G	NM_012351		159410055	1	tier1	rs149860482	no_errors	ENST00000423932	ensembl	human	known	74_37	silent	26.32	70	25	SNP	0.004	A	A	159410055	G	A	159410055	2	1	58	1	0	0	0	0	0	0	0	1	10949	1074	38	1		1	OR10J1	1	159410055	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	786838	159410055	89840566	180	14563											
VSIG8	391123	genome.wustl.edu	37	chr1	159827704	159827704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcacttcagcaccacatcGttgccatatgtcatgtggcc	9	11	8	13	1	2	0	2	0	0	0	3	0	2	0	3	1	3	3	3	1	2	4	rs140295916		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159827704G>A	ENST00000368100.1	-	4	618	c.483C>T	c.(481-483)aaC>aaT	p.N161N	C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	161	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GCACCACATCGTTGCCATATG	0.582													G|||	1	0.000199681	0	0	5008	,	,		21336	0		0.001	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	73	65	67		483	-2.7	0.2	1	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	VSIG8	NM_001013661.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		161/415	159827704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"Immunoglobulin superfamily / V-set domain containing"	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.483C>T	1.37:g.159827704G>A			Q5VU14	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.N161	ENST00000368100.1	37	c.483	CCDS30913.1	1																																																																																			VSIG8	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000243284		0.582	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG8	HGNC	protein_coding	OTTHUMT00000085978.8		0	57	0	G	NM_001013661		159827704	-1			no_errors	ENST00000368100	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.667	A	A	159827704	G	A	159827704	2	1	58	1	0	0	0	0	0	0	0	1	17275	1136	40	1		1	VSIG8	1	159827704	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	417649	159827704	89422917	181	14564											
CCDC19	25790	genome.wustl.edu	37	chr1	159863013	159863013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catccacctcagagctcacgGctttggtccgatagcgagcc	8	8	10	15	3	2	1	2	0	0	1	4	3	4	1	4	2	3	2	4	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159863013G>A	ENST00000368099.4	-	2	150	c.86C>T	c.(85-87)gCc>gTc	p.A29V	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGAGCTCACGGCTTTGGTCCG	0.522																																																	0													142	138	139					1																	159863013		2203	4300	6503	SO:0001583	missense	0																														ENST00000368099.4:c.86C>T	1.37:g.159863013G>A	ENSP00000357079:p.Ala29Val			Missense_Mutation	SNP	NULL	p.A29V	ENST00000368099.4	37	c.86	CCDS30914.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363436	0.82353	.	.	ENSG00000213085	ENST00000368099	T	0.53640	0.61	5.94	5.94	0.96194	.	0.136906	0.47093	D	0.000241	T	0.56187	0.1968	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.63381	0.914;0.914	T	0.52968	-0.8504	9	.	.	.	-12.9359	15.8595	0.79012	0.0:0.0:1.0:0.0	.	29;29	A8K884;Q9UL16	.;CCD19_HUMAN	V	29	ENSP00000357079:A29V	.	A	-	2	0	CCDC19	158129637	1.000000	0.71417	0.970000	0.41538	0.714000	0.41099	4.213000	0.58520	2.816000	0.96949	0.563000	0.77884	GCC	CCDC19	-	NULL	ENSG00000213085		0.522	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	-	0	69	0	G			159863013	-1	tier1	-	no_errors	ENST00000368099	ensembl	human	known	74_37	missense	35.19	70	38	SNP	0.988	A	A	159863013	G	A	159863013	3	1	58	1	0	0	0	0	1	0	0	0	2802	1203	42	3	1613	3	CCDC19	1	159863013	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	35309	159863013	89387608	182	14565											
IGSF9	57549	genome.wustl.edu	37	chr1	159899747	159899747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcgaaggccacgaggcGgaactcgtagagaacatcct	11	4	13	13	5	0	1	0	0	0	1	2	5	1	2	3	3	2	1	3	3	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159899747G>A	ENST00000368094.1	-	16	2280	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	IGSF9_ENST00000361509.3_Missense_Mutation_p.R679C|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	695	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCACGAGGCGGAACTCGTAG	0.682																																																	0													24	23	23					1																	159899747		2195	4296	6491	SO:0001583	missense	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2083C>T	1.37:g.159899747G>A	ENSP00000357073:p.Arg695Cys			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R695C	ENST00000368094.1	37	c.2083	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005993	0.54361	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.60920	0.15;0.15	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000723	T	0.69415	0.3108	M	0.72353	2.195	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.70342	-0.4898	9	.	.	.	-17.5807	16.131	0.81442	0.0:0.0:1.0:0.0	.	695	Q9P2J2	TUTLA_HUMAN	C	679;695	ENSP00000355049:R679C;ENSP00000357073:R695C	.	R	-	1	0	IGSF9	158166371	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.692000	0.68256	2.399000	0.81585	0.561000	0.74099	CGC	IGSF9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000085552		0.682	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	-	0	69	0	G	NM_020789		159899747	-1	tier1	-	no_errors	ENST00000368094	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A	A	159899747	G	A	159899747	3	1	58	1	0	0	0	0	1	0	0	0	7632	1116	39	1	1480	1	IGSF9	1	159899747	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	36734	159899747	89350874	183	14566											
KCNJ10	3766	genome.wustl.edu	37	chr1	160011799	160011799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacgaatggtctcagccCgcttcttgggccgggcaatc	8	9	12	12	3	2	1	1	1	2	0	4	2	2	1	2	3	2	2	2	3	3	2	rs397514673		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160011799C>T	ENST00000368089.3	-	2	750	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	175					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GGTCTCAGCCCGCTTCTTGGG	0.557																																					GBM(167;1368 2014 14817 36425 43215)												0													85	81	83					1																	160011799		2203	4300	6503	SO:0001583	missense	0			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.524G>A	1.37:g.160011799C>T	ENSP00000357068:p.Arg175Gln		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	p.R175Q	ENST00000368089.3	37	c.524	CCDS1193.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986945	0.93106	.	.	ENSG00000177807	ENST00000368089	D	0.96913	-4.17	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98319	1.0527	10	0.87932	D	0	.	16.8112	0.85720	0.0:1.0:0.0:0.0	.	175	P78508	IRK10_HUMAN	Q	175	ENSP00000357068:R175Q	ENSP00000357068:R175Q	R	-	2	0	KCNJ10	158278423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.837000	0.97791	0.655000	0.94253	CGG	KCNJ10	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000177807		0.557	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ10	HGNC	protein_coding	OTTHUMT00000060629.1	-	0	35	0	C	NM_002241		160011799	-1	tier1	-	no_errors	ENST00000368089	ensembl	human	known	74_37	missense	23.81	48	15	SNP	1.000	T	T	160011799	C	T	160011799	3	4	58	1	0	0	0	0	1	0	0	0	8071	652	23	1	619	1	KCNJ10	1	160011799	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	112052	160011799	89238822	184	14567											
ATP1A2	477	genome.wustl.edu	37	chr1	160091008	160091008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagctgtccttggatgaGctgggccgcaaataccaagt	11	8	11	11	1	0	1	0	1	0	0	1	2	1	2	3	2	3	3	3	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160091008G>T	ENST00000361216.3	+	3	233	c.144G>T	c.(142-144)gaG>gaT	p.E48D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E48D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	48					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTTGGATGAGCTGGGCCGCA	0.542																																																	0													209	210	210					1																	160091008		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.144G>T	1.37:g.160091008G>T	ENSP00000354490:p.Glu48Asp		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.E48D	ENST00000361216.3	37	c.144	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266863	0.59540	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	D;D	0.81659	-1.52;-1.52	4.56	4.56	0.56223	ATPase, P-type cation-transporter, N-terminal (2);	0.126067	0.50627	D	0.000103	T	0.70971	0.3285	M	0.64080	1.96	0.58432	D	0.999992	B	0.11235	0.004	B	0.17722	0.019	T	0.71276	-0.4641	10	0.45353	T	0.12	.	16.2544	0.82505	0.0:0.0:1.0:0.0	.	48	P50993	AT1A2_HUMAN	D	48	ENSP00000354490:E48D;ENSP00000376066:E48D	ENSP00000354490:E48D	E	+	3	2	ATP1A2	158357632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.765000	0.38481	2.363000	0.80096	0.655000	0.94253	GAG	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.542	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0	82	0	G	NM_000702		160091008	1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	5.08	112	6	SNP	1.000	T	T	160091008	G	T	160091008	3	4	58	1	0	0	0	0	1	0	0	0	1130	962	34	3	154	3	ATP1A2	1	160091008	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	79209	160091008	89159613	185	14568											
ATP1A4	480	genome.wustl.edu	37	chr1	160125039	160125039	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcctaccaaagacaacGtgagtctcttcagctactac	13	8	8	12	1	2	2	1	1	1	1	3	3	2	3	2	1	6	1	2	1	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160125039G>A	ENST00000368081.4	+	3	882		c.e3+1			NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide						ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGACAACGTGAGTCTCTT	0.517																																																	0													37	33	35					1																	160125039		2203	4300	6503	SO:0001630	splice_region_variant	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.411+1G>A	1.37:g.160125039G>A			Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Splice_Site	SNP	-	e3+1	ENST00000368081.4	37	c.411+1	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267427	0.59540	.	.	ENSG00000132681	ENST00000368081	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1868	0.65609	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP1A4	158391663	1.000000	0.71417	0.935000	0.37517	0.197000	0.23852	9.330000	0.96422	2.193000	0.70182	0.609000	0.83330	.	ATP1A4	-	-	ENSG00000132681		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	-	0	27	0	G	NM_144699	Intron	160125039	1	tier1	-	no_errors	ENST00000368081	ensembl	human	known	74_37	splice_site	31.67	41	19	SNP	1.000	A	A	160125039	G	A	160125039	5	1	58	1	0	0	0	0	0	0	1	0	1132	1159	40	1	422	1	ATP1A4	1	160125039	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	34031	160125039	89125582	186	14569											
DCAF8	50717	genome.wustl.edu	37	chr1	160209917	160209917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcttcctctgagCggtcatggactcgattttca	5	15	7	14	2	5	1	2	1	3	0	8	3	7	2	3	2	1	0	3	2	0	4	rs368652723		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160209917C>T	ENST00000368073.3	-	4	727	c.293G>A	c.(292-294)cGc>cAc	p.R98H	DCAF8_ENST00000368074.1_Missense_Mutation_p.R98H|DCAF8_ENST00000326837.2_Missense_Mutation_p.R98H|DCAF8_ENST00000610139.1_Missense_Mutation_p.R98H|DCAF8_ENST00000475733.1_Missense_Mutation_p.R98H|DCAF8_ENST00000608310.1_Missense_Mutation_p.R252H|DCAF8_ENST00000556710.1_Missense_Mutation_p.R252H			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	98					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ttcctctGAGCGGTCATGGAC	0.532																																																	0													66	55	59					1																	160209917		2203	4300	6503	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.293G>A	1.37:g.160209917C>T	ENSP00000357052:p.Arg98His		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R252H	ENST00000368073.3	37	c.755	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386697	0.42308	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.14;-0.14	4.89	0.631	0.17699	WD40/YVTN repeat-like-containing domain (1);	0.510139	0.15868	N	0.240655	T	0.12860	0.0312	N	0.02011	-0.69	0.28770	N	0.900439	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.26538	-1.0100	10	0.21014	T	0.42	-8.0E-4	4.6208	0.12449	0.0:0.4869:0.1542:0.3589	.	252;98;98	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	H	98;98;98;252;79;98;98;98;252	ENSP00000357052:R98H;ENSP00000318227:R98H;ENSP00000357053:R98H;ENSP00000451989:R252H;ENSP00000451235:R252H	ENSP00000318227:R98H	R	-	2	0	RP11-574F21.3;DCAF8	158476541	0.393000	0.25237	0.999000	0.59377	0.945000	0.59286	-0.459000	0.06728	0.129000	0.18514	-0.266000	0.10368	CGC	DCAF8	-	NULL	ENSG00000132716		0.532	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	-	0	59	0	C	NM_015726		160209917	-1	tier1	-	no_errors	ENST00000608310	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.997	T	T	160209917	C	T	160209917	3	4	58	1	0	0	0	0	1	0	0	0	4285	768	27	1	1544	1	DCAF8	1	160209917	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	84878	160209917	89040704	187	14570											
COPA	1314	genome.wustl.edu	37	chr1	160261861	160261861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgagaaggatggaacGgaatttttccacagcctcct	12	9	9	11	1	0	1	0	1	0	1	2	5	2	4	3	3	2	0	3	3	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160261861G>A	ENST00000241704.7	-	29	3317	c.3088C>T	c.(3088-3090)Cgt>Tgt	p.R1030C	COPA_ENST00000368069.3_Missense_Mutation_p.R1039C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1030					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATGGAACGGAATTTTTCC	0.512											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													181	180	180					1																	160261861		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3088C>T	1.37:g.160261861G>A	ENSP00000241704:p.Arg1030Cys	1807	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R1039C	ENST00000241704.7	37	c.3115	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112924	0.77210	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.955;0.958	T	0.75811	-0.3186	10	0.72032	D	0.01	-15.1108	18.1556	0.89689	0.0:0.0:1.0:0.0	.	1030;1039	P53621;P53621-2	COPA_HUMAN;.	C	1039;1030	ENSP00000357048:R1039C;ENSP00000241704:R1030C	ENSP00000241704:R1030C	R	-	1	0	COPA	158528485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.604000	0.67626	2.873000	0.98535	0.561000	0.74099	CGT	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.512	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0	50	0	G	NM_004371		160261861	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	A	A	160261861	G	A	160261861	3	1	58	1	0	0	0	0	1	0	0	0	3734	1116	39	1	606	1	COPA	1	160261861	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	51944	160261861	88988760	188	14571											
NIT1	4817	genome.wustl.edu	37	chr1	161090515	161090515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgttccagcaccgcaGgcctgacctctatggcaatc	7	9	10	15	1	1	1	0	1	1	0	3	1	2	1	5	2	1	4	5	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161090515G>T	ENST00000368009.2	+	7	1020	c.944G>T	c.(943-945)aGg>aTg	p.R315M	PFDN2_ENST00000468311.1_5'Flank|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_Missense_Mutation_p.R279M|NIT1_ENST00000368008.1_Intron|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.R300M	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	315	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGCACCGCAGGCCTGACCTC	0.597																																																	0													55	49	51					1																	161090515		2203	4300	6503	SO:0001583	missense	0			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.944G>T	1.37:g.161090515G>T	ENSP00000356988:p.Arg315Met		B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.R315M	ENST00000368009.2	37	c.944	CCDS1218.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935622	0.73442	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	T;T;T	0.65549	-0.16;-0.16;-0.16	4.9	4.9	0.64082	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.986	D	0.91764	0.5422	10	0.87932	D	0	-10.1019	15.6362	0.76953	0.0:0.0:1.0:0.0	.	300;315	Q86X76-4;Q86X76	.;NIT1_HUMAN	M	315;300;279	ENSP00000356988:R315M;ENSP00000356986:R300M;ENSP00000376028:R279M	ENSP00000356986:R300M	R	+	2	0	NIT1	159357139	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.883000	0.87264	2.551000	0.86045	0.563000	0.77884	AGG	NIT1	-	pfscan_C-N_Hydrolase	ENSG00000158793		0.597	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	HGNC	protein_coding	OTTHUMT00000077060.1	-	0	30	0	G			161090515	1	tier1	-	no_errors	ENST00000368009	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	161090515	G	T	161090515	3	4	58	1	0	0	0	0	1	0	0	0	10472	1000	35	3	1027	3	NIT1	1	161090515	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	828654	161090515	88160106	189	14572											
NIT1	4817	genome.wustl.edu	37	chr1	161090539	161090539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacctctatggcaatctggGtcacccactgtcttaagact	9	12	8	12	0	4	2	1	1	3	1	4	2	4	2	2	2	0	1	2	2	3	2	rs376379316		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161090539G>T	ENST00000368009.2	+	7	1044	c.968G>T	c.(967-969)gGt>gTt	p.G323V	PFDN2_ENST00000468311.1_5'Flank|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_Missense_Mutation_p.G287V|NIT1_ENST00000368008.1_Intron|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.G308V	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	323					nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAATCTGGGTCACCCACTG	0.577																																																	0													51	45	47					1																	161090539		2203	4299	6502	SO:0001583	missense	0			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.968G>T	1.37:g.161090539G>T	ENSP00000356988:p.Gly323Val		B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.G323V	ENST00000368009.2	37	c.968	CCDS1218.1	1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752807	0.49362	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	T;T;T	0.76186	-1.0;-0.99;-0.98	4.81	4.81	0.61882	.	0.332135	0.31797	N	0.007043	T	0.42562	0.1208	N	0.00583	-1.355	0.58432	D	0.999997	P;P	0.46512	0.879;0.808	P;P	0.51016	0.656;0.454	T	0.68138	-0.5488	10	0.72032	D	0.01	-5.038	13.2519	0.60055	0.0:0.0:1.0:0.0	.	308;323	Q86X76-4;Q86X76	.;NIT1_HUMAN	V	323;308;287	ENSP00000356988:G323V;ENSP00000356986:G308V;ENSP00000376028:G287V	ENSP00000356986:G308V	G	+	2	0	NIT1	159357163	1.000000	0.71417	0.999000	0.59377	0.553000	0.35397	2.666000	0.46799	2.499000	0.84300	0.563000	0.77884	GGT	NIT1	-	NULL	ENSG00000158793		0.577	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	HGNC	protein_coding	OTTHUMT00000077060.1	-	0	25	0	G			161090539	1	tier1	-	no_errors	ENST00000368009	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T	T	161090539	G	T	161090539	3	4	58	1	0	0	0	0	1	0	0	0	10472	1261	44	3	1051	3	NIT1	1	161090539	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	24	161090539	88160082	190	14573											
DEDD	9191	genome.wustl.edu	37	chr1	161092920	161092920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacttccggcgttttcgctgGctcccaagtgtggctctccc	3	12	11	15	3	1	0	0	0	1	0	5	1	3	0	3	3	0	4	3	3	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161092920G>T	ENST00000368006.3	-	5	739	c.525C>A	c.(523-525)agC>agA	p.S175R	DEDD_ENST00000368005.1_Missense_Mutation_p.S175R|DEDD_ENST00000458050.2_Missense_Mutation_p.S175R|DEDD_ENST00000489249.1_5'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_Missense_Mutation_p.S175R|DEDD_ENST00000545495.1_Missense_Mutation_p.S175R|DEDD_ENST00000392188.1_Missense_Mutation_p.S175R	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	175					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTTTTCGCTGGCTCCCAAGTG	0.577																																																	0													127	117	121					1																	161092920		2203	4300	6503	SO:0001583	missense	0			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"death effector domain-containing"			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.525C>A	1.37:g.161092920G>T	ENSP00000356985:p.Ser175Arg		D3DVF5|O60737	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.S175R	ENST00000368006.3	37	c.525	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682483	0.14907	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	4.36	0.358	0.16084	.	0.241030	0.51477	D	0.000093	T	0.18509	0.0444	L	0.40543	1.245	0.46564	D	0.999106	B;P;B	0.35656	0.144;0.514;0.089	B;B;B	0.26969	0.056;0.075;0.015	T	0.03619	-1.1019	9	0.36615	T	0.2	.	8.1251	0.30995	0.3721:0.0:0.6279:0.0	.	132;175;175	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	R	175;175;175;175;175;175;132	.	ENSP00000356984:S175R	S	-	3	2	DEDD	159359544	1.000000	0.71417	0.956000	0.39512	0.601000	0.36947	0.600000	0.24104	0.210000	0.20664	0.655000	0.94253	AGC	DEDD	-	NULL	ENSG00000158796		0.577	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	-	0	52	0	G	NM_004216		161092920	-1	tier1	-	no_errors	ENST00000368005	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.987	T	T	161092920	G	T	161092920	3	4	58	1	0	0	0	0	1	0	0	0	4393	1194	42	3	439	3	DEDD	1	161092920	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2381	161092920	88157701	191	14574											
FCGR3B	2214	genome.wustl.edu	37	chr1	161594337	161594337	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagagaaatatagtcCtgtgtccactgcaaaaagga	15	9	8	9	0	1	1	1	0	0	1	3	3	3	2	2	1	1	1	2	1	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161594337C>T	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Missense_Mutation_p.G260R|FCGR3B_ENST00000367964.2_Missense_Mutation_p.G224R|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.G224R			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAATATAGTCCTGTGTCCACT	0.448																																																	0													109	117	114					1																	161594337		2190	4299	6489	SO:0001627	intron_variant	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3619	protein-coding gene	gene with protein product		146740	"Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+5820G>A	1.37:g.161594337C>T			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.G224R	ENST00000540048.1	37	c.670		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	10.04|10.04	1.242108|1.242108	0.22796|0.22796	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221|ENST00000421702	T;T;T|.	0.01516|.	4.81;4.81;4.84|.	3.0|3.0	2.03|2.03	0.26663|0.26663	.|.	15.736900|.	0.00166|.	N|.	0.000005|.	T|T	0.30572|0.30572	0.0769|0.0769	M|M	0.69523|0.69523	2.12|2.12	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.69307|.	0.963|.	T|T	0.16897|0.16897	-1.0387|-1.0387	10|5	0.05959|.	T|.	0.93|.	.|.	6.1797|6.1797	0.20463|0.20463	0.0:0.8442:0.0:0.1558|0.0:0.8442:0.0:0.1558	.|.	224|.	O75015|.	FCG3B_HUMAN|.	R|K	224;224;260|244	ENSP00000356941:G224R;ENSP00000294800:G224R;ENSP00000433642:G260R|.	ENSP00000294800:G224R|.	G|R	-|-	1|2	0|0	FCGR3B|FCGR3B	159860961|159860961	0.001000|0.001000	0.12720|0.12720	0.071000|0.071000	0.20095|0.20095	0.392000|0.392000	0.30506|0.30506	1.007000|1.007000	0.29860|0.29860	1.507000|1.507000	0.48752|0.48752	0.393000|0.393000	0.25936|0.25936	GGA|AGG	FCGR3B	-	NULL	ENSG00000162747		0.448	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	FCGR3B	HGNC	protein_coding		-	0	151	0	C	NM_000569		161594337	-1	tier1	-	no_errors	ENST00000294800	ensembl	human	known	74_37	missense	15.22	156	28	SNP	0.174	T	T	161594337	C	T	161594337	1	4	58	0	1	0	0	0	0	0	0	0	5807	690	24	3		3	FCGR3B	1	161594337	Intron	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	501417	161594337	87656284	192	14575											
ATF6	22926	genome.wustl.edu	37	chr1	161751764	161751764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttgggagtcagacatttgGgacatcaacaaccaaatctg	13	9	9	10	0	3	1	2	0	1	1	3	3	3	3	2	2	2	0	2	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161751764G>T	ENST00000367942.3	+	3	289	c.222G>T	c.(220-222)tgG>tgT	p.W74C		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	74	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CAGACATTTGGGACATCAACA	0.294																																																	0													93	90	91					1																	161751764		2203	4300	6503	SO:0001583	missense	0			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"basic leucine zipper proteins"	791	protein-coding gene	gene with protein product	"activating transcription factor 6 alpha"	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.222G>T	1.37:g.161751764G>T	ENSP00000356919:p.Trp74Cys		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.W74C	ENST00000367942.3	37	c.222	CCDS1235.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484427	0.63962	.	.	ENSG00000118217	ENST00000367942	T	0.15718	2.4	5.04	5.04	0.67666	.	0.297898	0.35262	N	0.003336	T	0.20292	0.0488	L	0.55481	1.735	0.46499	D	0.999076	D;D	0.64830	0.994;0.99	P;P	0.57371	0.819;0.594	T	0.01065	-1.1463	9	0.36615	T	0.2	-8.347	14.261	0.66085	0.0:0.0:1.0:0.0	.	74;75	P18850;Q59H30	ATF6A_HUMAN;.	C	74	ENSP00000356919:W74C	ENSP00000356919:W74C	W	+	3	0	ATF6	160018388	1.000000	0.71417	0.952000	0.39060	0.962000	0.63368	4.907000	0.63300	2.498000	0.84270	0.555000	0.69702	TGG	ATF6	-	NULL	ENSG00000118217		0.294	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF6	HGNC	protein_coding	OTTHUMT00000060304.2	-	0	53	0	G	NM_007348		161751764	1	tier1	-	no_errors	ENST00000367942	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.984	T	T	161751764	G	T	161751764	3	4	58	1	0	0	0	0	1	0	0	0	1085	1241	43	3	232	3	ATF6	1	161751764	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	157427	161751764	87498857	193	14576											
OLFML2B	25903	genome.wustl.edu	37	chr1	161953561	161953561	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtctatctgggtcgtataGgaatactcattctcgaacag	11	13	9	8	2	4	0	1	0	3	0	6	2	4	1	0	2	2	1	0	2	7	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161953561G>T	ENST00000294794.3	-	8	2580	c.2157C>A	c.(2155-2157)tcC>tcA	p.S719S	OLFML2B_ENST00000367940.2_Silent_p.S720S|OLFML2B_ENST00000367938.1_Silent_p.S202S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	719	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGTCGTATAGGAATACTCAT	0.527																																																	0													367	333	345					1																	161953561		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2157C>A	1.37:g.161953561G>T			B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.S719	ENST00000294794.3	37	c.2157	CCDS1236.1	1																																																																																			OLFML2B	-	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.527	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	-	0	130	0	G	NM_015441		161953561	-1	tier1	-	no_errors	ENST00000294794	ensembl	human	known	74_37	silent	30.07	100	43	SNP	1.000	T	T	161953561	G	T	161953561	2	4	58	1	0	0	0	0	0	0	0	1	10897	987	35	3		3	OLFML2B	1	161953561	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	201797	161953561	87297060	194	14577											
DDR2	4921	genome.wustl.edu	37	chr1	162748376	162748376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttacttaaatagggcaagTtcactacagcaagtgatgtg	13	12	9	7	0	1	1	1	1	0	0	1	1	1	1	0	1	3	3	0	1	7	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:162748376T>C	ENST00000367922.3	+	18	2728	c.2290T>C	c.(2290-2292)Ttc>Ctc	p.F764L	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.F764L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ATAGGGCAAGTTCACTACAGC	0.438																																					NSCLC(161;314 2006 8283 19651 23192)												0													178	177	178					1																	162748376		2203	4300	6503	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2290T>C	1.37:g.162748376T>C	ENSP00000356899:p.Phe764Leu		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F764L	ENST00000367922.3	37	c.2290	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672811	0.88445	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.88896	-2.44;-2.44	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92958	0.7759	M	0.81239	2.535	0.40839	D	0.983654	P	0.45827	0.867	D	0.63381	0.914	D	0.94098	0.7359	9	0.72032	D	0.01	.	14.4175	0.67160	0.0:0.0:0.0:1.0	.	764	Q16832	DDR2_HUMAN	L	764	ENSP00000356899:F764L;ENSP00000356898:F764L	ENSP00000356898:F764L	F	+	1	0	DDR2	161015000	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.926000	0.87569	2.080000	0.62538	0.533000	0.62120	TTC	DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000162733		0.438	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	-	0	98	0	T	NM_006182		162748376	1	tier1	-	no_errors	ENST00000367921	ensembl	human	known	74_37	missense	21.88	99	28	SNP	1.000	C	C	162748376	T	C	162748376	3	2	58	1	0	0	0	0	1	0	0	0	4346	1725	60	4	2348	4	DDR2	1	162748376	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	794815	162748376	86502245	195	14578											
PBX1	5087	genome.wustl.edu	37	chr1	164529145	164529145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcccagcacttgcaggatgGggccggagggaccgaggggg	7	4	20	10	2	0	0	0	0	0	0	1	4	1	3	3	7	2	2	3	7	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:164529145G>T	ENST00000420696.2	+	1	274	c.86G>T	c.(85-87)gGg>gTg	p.G29V	PBX1_ENST00000401534.1_Missense_Mutation_p.G29V|PBX1_ENST00000540236.1_Missense_Mutation_p.G29V|PBX1_ENST00000367897.1_Missense_Mutation_p.G29V|PBX1_ENST00000485769.1_Missense_Mutation_p.G29V|PBX1_ENST00000559240.1_Missense_Mutation_p.G29V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	29					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTGCAGGATGGGGCCGGAGGG	0.612			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0													10	10	10					1																	164529145		2069	3995	6064	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.86G>T	1.37:g.164529145G>T	ENSP00000405890:p.Gly29Val		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G29V	ENST00000420696.2	37	c.86	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	G	7.855	0.724766	0.15439	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534	T;D;D;D;D	0.89196	0.82;-2.47;-2.34;-2.48;-2.34	5.42	4.49	0.54785	.	0.199304	0.41938	D	0.000788	T	0.81997	0.4941	L	0.54323	1.7	0.09310	N	1.0	B;B;B	0.29646	0.253;0.134;0.164	B;B;B	0.32980	0.156;0.115;0.07	T	0.82259	-0.0546	9	0.59425	D	0.04	-9.8634	14.4312	0.67251	0.0:0.0:0.8512:0.1488	.	29;29;29	F5H4U9;P40424;Q53YC7	.;PBX1_HUMAN;.	V	29	ENSP00000341455:G29V;ENSP00000405890:G29V;ENSP00000356872:G29V;ENSP00000439943:G29V;ENSP00000384856:G29V	ENSP00000341455:G29V	G	+	2	0	PBX1	162795769	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	9.238000	0.95380	1.262000	0.44165	-0.182000	0.12963	GGG	PBX1	-	NULL	ENSG00000185630		0.612	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	-	0	39	0	G	NM_002585		164529145	1	tier1	-	no_errors	ENST00000420696	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	T	T	164529145	G	T	164529145	3	4	58	1	0	0	0	0	1	0	0	0	11531	1232	43	3	88	3	PBX1	1	164529145	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1780769	164529145	84721476	196	14579											
TADA1	117143	genome.wustl.edu	37	chr1	166826910	166826910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcgtgatgatcctttcaAtgttaagagcatagacagta	12	14	9	6	1	1	4	1	2	0	2	3	4	2	4	1	0	1	4	1	0	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:166826910A>G	ENST00000367874.4	-	8	995	c.902T>C	c.(901-903)aTt>aCt	p.I301T	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	301					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						GATCCTTTCAATGTTAAGAGC	0.443																																																	0													143	142	142					1																	166826910		2203	4300	6503	SO:0001583	missense	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.902T>C	1.37:g.166826910A>G	ENSP00000356848:p.Ile301Thr		A8K4J9	Missense_Mutation	SNP	superfamily_Histone-fold	p.I301T	ENST00000367874.4	37	c.902	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294910	0.40594	.	.	ENSG00000152382	ENST00000367874	T	0.46063	0.88	4.53	4.53	0.55603	.	0.104827	0.64402	D	0.000004	T	0.12518	0.0304	N	0.14661	0.345	0.37440	D	0.914383	B	0.10296	0.003	B	0.04013	0.001	T	0.06734	-1.0810	9	0.31617	T	0.26	-4.6564	12.1377	0.53981	1.0:0.0:0.0:0.0	.	301	Q96BN2	TADA1_HUMAN	T	301	ENSP00000356848:I301T	ENSP00000356848:I301T	I	-	2	0	TADA1	165093534	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	8.590000	0.90821	2.012000	0.59069	0.533000	0.62120	ATT	TADA1	-	NULL	ENSG00000152382		0.443	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	-	0	68	0	A	NM_053053		166826910	-1	tier1	-	no_errors	ENST00000367874	ensembl	human	known	74_37	missense	16.28	72	14	SNP	1.000	G	G	166826910	A	G	166826910	3	3	58	1	0	0	0	0	1	0	0	0	15556	101	4	4	109	4	TADA1	1	166826910	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2297765	166826910	82423711	197	14580											
RCSD1	92241	genome.wustl.edu	37	chr1	167653202	167653202	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggtggcccagctggcCgggcggtttagggagcaggc	4	6	18	13	3	0	0	0	0	0	0	1	1	0	1	3	7	2	3	3	7	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:167653202C>T	ENST00000367854.3	+	2	403	c.72C>T	c.(70-72)gcC>gcT	p.A24A	RCSD1_ENST00000537350.1_Silent_p.A24A	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	24					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCCAGCTGGCCGGGCGGTTTA	0.597																																																	0													95	110	105					1																	167653202		2203	4300	6503	SO:0001819	synonymous_variant	0			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.72C>T	1.37:g.167653202C>T			B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.A24	ENST00000367854.3	37	c.72	CCDS1263.1	1																																																																																			RCSD1	-	NULL	ENSG00000198771		0.597	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	-	0	57	0	C	NM_052862		167653202	1	tier1	-	no_errors	ENST00000367854	ensembl	human	known	74_37	silent	19.10	72	17	SNP	0.042	T	T	167653202	C	T	167653202	2	4	58	1	0	0	0	0	0	0	0	1	13230	639	23	1		1	RCSD1	1	167653202	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	826292	167653202	81597419	198	14581											
RCSD1	92241	genome.wustl.edu	37	chr1	167654702	167654702	+	Frame_Shift_Del	DEL	C	C	-																															aggaaaccgccctgttccctCcccctgttcccccccaaggt																								rs371072929		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:167654702delC	ENST00000367854.3	+	3	484	c.153delC	c.(151-153)ctcfs	p.L51fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	51					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTGTTCCCTCCCCCTGTTCC	0.562																																																	0													89	79	82					1																	167654702		2203	4300	6503	SO:0001589	frameshift_variant	0			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.153delC	1.37:g.167654702delC	ENSP00000356828:p.Leu51fs		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Frame_Shift_Del	DEL	pfam_RCSD	p.L53fs	ENST00000367854.3	37	c.153	CCDS1263.1	1																																																																																			RCSD1	-	NULL	ENSG00000198771		0.562	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1		0	51	0	C	NM_052862		167654702	1	tier1		no_errors	ENST00000367854	ensembl	human	known	74_37	frame_shift_del	26.03	54	19	DEL	0.994	-	-	167654702	C	-	167654702	7	5	58	1	0	1	0	1	0	0	0	0	13230	842	30	0	163	0	RCSD1	1	167654702	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1500	167654702	81595919	199	14582											
DCAF6	55827	genome.wustl.edu	37	chr1	168032896	168032896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaggagttcttcagaCggagaaaagaaaggaaagaa	18	7	12	4	1	3	4	2	0	1	4	3	7	3	6	0	3	0	2	0	3	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:168032896C>T	ENST00000312263.6	+	15	2269	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	DCAF6_ENST00000367843.3_Missense_Mutation_p.R709W|DCAF6_ENST00000367840.3_Missense_Mutation_p.R780W|DCAF6_ENST00000432587.2_Missense_Mutation_p.R749W	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	689	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GTTCTTCAGACGGAGAAAAGA	0.333																																																	0													45	44	44					1																	168032896		2203	4299	6502	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2065C>T	1.37:g.168032896C>T	ENSP00000311949:p.Arg689Trp		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.R780W	ENST00000312263.6	37	c.2338	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319710	0.60524	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.83755	-1.64;0.05;-1.65;-1.76	5.63	-0.655	0.11439	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	N	0.19112	0.55	0.50171	D	0.999858	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.997;0.997;0.999	T	0.82232	-0.0559	9	0.72032	D	0.01	.	18.5548	0.91080	0.7564:0.2436:0.0:0.0	.	749;780;689;709	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	W	709;749;689;780	ENSP00000356817:R709W;ENSP00000396238:R749W;ENSP00000311949:R689W;ENSP00000356814:R780W	ENSP00000311949:R689W	R	+	1	2	DCAF6	166299520	1.000000	0.71417	0.997000	0.53966	0.700000	0.40528	1.228000	0.32588	-0.075000	0.12798	-0.324000	0.08512	CGG	DCAF6	-	superfamily_WD40_repeat_dom,pfscan_IQ_motif_EF-hand-BS	ENSG00000143164		0.333	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0	18	0	C	NM_018442		168032896	1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.999	T	T	168032896	C	T	168032896	3	4	58	1	0	0	0	0	1	0	0	0	4283	527	19	1	2187	1	DCAF6	1	168032896	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	378194	168032896	81217725	200	14583											
DCAF6	55827	genome.wustl.edu	37	chr1	168034905	168034905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacattttcatctgggatcgGcacactgctgagcatttgat	9	13	9	10	1	2	2	1	2	1	0	3	3	2	3	0	2	2	3	0	2	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:168034905G>A	ENST00000312263.6	+	16	2448	c.2244G>A	c.(2242-2244)cgG>cgA	p.R748R	DCAF6_ENST00000367843.3_Silent_p.R768R|DCAF6_ENST00000367840.3_Silent_p.R839R|DCAF6_ENST00000432587.2_Silent_p.R808R	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	748					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGGGATCGGCACACTGCTG	0.413																																																	0													75	72	73					1																	168034905		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2244G>A	1.37:g.168034905G>A			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.R839	ENST00000312263.6	37	c.2517	CCDS30933.1	1																																																																																			DCAF6	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000143164		0.413	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0	29	0	G	NM_018442		168034905	1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.993	A	A	168034905	G	A	168034905	2	1	58	1	0	0	0	0	0	0	0	1	4283	1190	42	3		3	DCAF6	1	168034905	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2009	168034905	81215716	201	14584											
XCL2	6846	genome.wustl.edu	37	chr1	168510294	168510294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcctgtccatgctcctgaCcacgtctctcacccacgtgg	5	12	7	17	2	2	1	1	1	1	0	6	1	5	1	5	1	1	1	5	1	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:168510294C>T	ENST00000367819.2	-	3	273	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	81					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					ATGCTCCTGACCACGTCTCTC	0.488																																																	0													274	216	236					1																	168510294		2203	4300	6503	SO:0001583	missense	0			BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"Endogenous ligands"	10646	protein-coding gene	gene with protein product		604828	"small inducible cytokine subfamily C, member 2"	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.241G>A	1.37:g.168510294C>T	ENSP00000356793:p.Val81Ile			Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_XCL1	p.V81I	ENST00000367819.2	37	c.241	CCDS1273.1	1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.582136	0.00879	.	.	ENSG00000143185	ENST00000367819	T	0.03860	3.78	2.35	-2.46	0.06461	Chemokine interleukin-8-like domain (3);	0.836448	0.10746	N	0.638859	T	0.00468	0.0015	N	0.05574	-0.02	0.21841	N	0.999511	B	0.13594	0.008	B	0.17979	0.02	T	0.45175	-0.9279	9	0.02654	T	1	-12.6962	3.2585	0.06840	0.0:0.2653:0.2299:0.5048	.	81	Q9UBD3	XCL2_HUMAN	I	81	ENSP00000356793:V81I	ENSP00000356793:V81I	V	-	1	0	XCL2	166776918	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.707000	0.05041	-0.445000	0.07159	0.184000	0.17185	GTC	XCL2	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000143185		0.488	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCL2	HGNC	protein_coding	OTTHUMT00000083613.1	-	0	221	0	C	NM_003175		168510294	-1	tier1	-	no_errors	ENST00000367819	ensembl	human	known	74_37	missense	30.34	202	88	SNP	0.000	T	T	168510294	C	T	168510294	3	4	58	1	0	0	0	0	1	0	0	0	17473	507	18	3	107	3	XCL2	1	168510294	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	475389	168510294	80740327	202	14585											
C1orf156	92342	genome.wustl.edu	37	chr1	169762095	169762095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgcatcttttcacatCtggctcatttacatcatttt	7	20	3	11	0	5	0	3	0	2	0	6	0	6	0	1	1	2	2	1	1	1	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:169762095C>A	ENST00000310392.4	-	2	1095	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.D248Y|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000413811.2_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	248						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						CTTTTCACATCTGGCTCATTT	0.348																																																	0													126	133	131					1																	169762095		2190	4293	6483	SO:0001583	missense	0			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"histidine protein methyltransferase 1"	615255	"chromosome 1 open reading frame 156"	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.742G>T	1.37:g.169762095C>A	ENSP00000307975:p.Asp248Tyr		B2R9T5	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.D248Y	ENST00000310392.4	37	c.742	CCDS1284.1	1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361075	0.24684	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.16457	2.34;2.34	5.79	4.83	0.62350	.	0.641212	0.15520	N	0.258097	T	0.10508	0.0257	L	0.29908	0.895	0.09310	N	1	D	0.56287	0.975	P	0.52109	0.69	T	0.15378	-1.0439	10	0.21540	T	0.41	-0.0033	14.6422	0.68734	0.0:0.7827:0.2173:0.0	.	248	O95568	MET18_HUMAN	Y	248	ENSP00000307975:D248Y;ENSP00000307077:D248Y	ENSP00000307077:D248Y	D	-	1	0	METTL18	168028719	0.006000	0.16342	0.082000	0.20525	0.178000	0.23041	0.397000	0.20883	2.722000	0.93159	0.655000	0.94253	GAT	METTL18	-	NULL	ENSG00000171806		0.348	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL18	HGNC	protein_coding	OTTHUMT00000087109.1	-	0	49	0	C	NM_033418		169762095	-1	tier1	-	no_errors	ENST00000303469	ensembl	human	known	74_37	missense	17.78	74	16	SNP	0.001	A	A	169762095	C	A	169762095	3	1	58	1	0	0	0	0	1	0	0	0	2013	913	32	3	380	3	C1orf156	1	169762095	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1251801	169762095	79488526	203	14586											
SCYL3	57147	genome.wustl.edu	37	chr1	169836093	169836093	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaacttttcaagaaattCacaacttccagaaaatcatt	17	13	3	8	0	3	2	3	0	0	2	4	2	4	2	1	0	2	1	1	0	7	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:169836093C>A	ENST00000367770.1	-	7	806	c.759G>T	c.(757-759)gtG>gtT	p.V253V	SCYL3_ENST00000367771.6_Silent_p.V253V|SCYL3_ENST00000367772.4_Silent_p.V253V|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	253					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAAGAAATTCACAACTTCCA	0.289																																																	0													41	42	42					1																	169836093		2197	4290	6487	SO:0001819	synonymous_variant	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.759G>T	1.37:g.169836093C>A			A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom	p.V253	ENST00000367770.1	37	c.759	CCDS1287.1	1																																																																																			SCYL3	-	NULL	ENSG00000000457		0.289	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	-	0	54	0	C	NM_181093		169836093	-1	tier1	-	no_errors	ENST00000367770	ensembl	human	known	74_37	silent	16.67	45	9	SNP	1.000	A	A	169836093	C	A	169836093	2	1	58	1	0	0	0	0	0	0	0	1	13994	813	29	3		3	SCYL3	1	169836093	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	73998	169836093	79414528	204	14587											
BAT2L2	23215	genome.wustl.edu	37	chr1	171514769	171514769	+	Frame_Shift_Del	DEL	A	A	-																															aagaccccaaaccaggccctAaaaaaccaaaagagaaagtg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:171514769delA	ENST00000338920.4	+	17	5146	c.4909delA	c.(4909-4911)aaafs	p.K1638fs	PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.K1640fs|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.K1638fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.K1640fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1638					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACCAGGCCCTAAAAAACCAAA	0.363																																																	0													61	62	62					1																	171514769		2203	4300	6503	SO:0001589	frameshift_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4909delA	1.37:g.171514769delA	ENSP00000343629:p.Lys1638fs		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	pfam_BAT2_N	p.K1640fs	ENST00000338920.4	37	c.4915	CCDS1296.2	1																																																																																			PRRC2C	-	NULL	ENSG00000117523		0.363	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4		0	34	0	A	NM_015172		171514769	1	tier1		no_errors	ENST00000392078	ensembl	human	known	74_37	frame_shift_del	22.64	41	12	DEL	1.000	-	-	171514769	A	-	171514769	7	5	58	1	0	1	0	1	0	0	0	0	1322	363	13	0	4971	0	BAT2L2	1	171514769	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1678676	171514769	77735852	205	14588											
METTL13	51603	genome.wustl.edu	37	chr1	171757033	171757033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacaggaatgtggtgcaGtccgaagccaggttgctgaa	12	7	14	8	1	0	1	0	1	0	0	1	3	1	2	2	3	5	4	2	3	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:171757033G>T	ENST00000361735.3	+	4	1538	c.1272G>T	c.(1270-1272)caG>caT	p.Q424H	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.Q423H|METTL13_ENST00000362019.3_Missense_Mutation_p.Q338H|METTL13_ENST00000367737.5_Missense_Mutation_p.Q268H	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	424							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ATGTGGTGCAGTCCGAAGCCA	0.542																																																	0													144	103	117					1																	171757033		2203	4300	6503	SO:0001583	missense	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1272G>T	1.37:g.171757033G>T	ENSP00000354920:p.Gln424His		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.Q424H	ENST00000361735.3	37	c.1272	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072771	0.76415	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.44	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	M	0.86573	2.825	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.90120	0.4198	10	0.66056	D	0.02	-23.9869	14.1328	0.65266	0.0743:0.0:0.9257:0.0	.	423;268;424	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	423;338;268;424	ENSP00000401955:Q423H;ENSP00000355393:Q338H;ENSP00000356711:Q268H;ENSP00000354920:Q424H	ENSP00000354920:Q424H	Q	+	3	2	METTL13	170023656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.085000	0.64468	2.539000	0.85634	0.655000	0.94253	CAG	METTL13	-	NULL	ENSG00000010165		0.542	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5		0	85	0	G	NM_014955		171757033	1			no_errors	ENST00000361735	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	171757033	G	T	171757033	3	4	58	1	0	0	0	0	1	0	0	0	9535	1020	36	3	1286	3	METTL13	1	171757033	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	242264	171757033	77493588	206	14589											
C1orf9	51430	genome.wustl.edu	37	chr1	172554204	172554204	+	Frame_Shift_Del	DEL	A	A	-																															gctgctaatattctgggagcAaaaactgaagacctgacaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:172554204delA	ENST00000263688.3	+	16	1764	c.1545delA	c.(1543-1545)gcafs	p.A515fs	SUCO_ENST00000610051.1_Frame_Shift_Del_p.A478fs|SUCO_ENST00000608151.1_Frame_Shift_Del_p.A667fs|SUCO_ENST00000367723.4_Frame_Shift_Del_p.A666fs	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	515					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTCTGGGAGCAAAAACTGAAG	0.313																																																	0													75	78	77					1																	172554204		2203	4295	6498	SO:0001589	frameshift_variant	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"SUN-like protein 1", "osteopotentia"		"chromosome 1 open reading frame 9"	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1545delA	1.37:g.172554204delA	ENSP00000263688:p.Ala515fs		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Frame_Shift_Del	DEL	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.T669fs	ENST00000263688.3	37	c.2001	CCDS1303.1	1																																																																																			SUCO	-	NULL	ENSG00000094975		0.313	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1		0	42	0	A	NM_016227		172554204	1	tier1		no_errors	ENST00000608151	ensembl	human	known	74_37	frame_shift_del	24.44	68	22	DEL	1.000	-	-	172554204	A	-	172554204	7	5	58	1	0	1	0	1	0	0	0	0	2074	117	5	0	1607	0	C1orf9	1	172554204	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	797171	172554204	76696417	207	14590											
TNR	7143	genome.wustl.edu	37	chr1	175293628	175293628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctctgtggagaaagggCgtccttgatgatagctgagg	9	11	14	7	1	1	4	0	3	1	1	3	5	3	4	2	3	1	1	2	3	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:175293628C>T	ENST00000367674.2	-	22	4529	c.3821G>A	c.(3820-3822)cGc>cAc	p.R1274H	TNR_ENST00000263525.2_Missense_Mutation_p.R1274H|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1274	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1274L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGAGAAAGGGCGTCCTTGATG	0.478																																																	1	Substitution - Missense(1)	ovary(1)											235	196	209					1																	175293628		2203	4300	6503	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3821G>A	1.37:g.175293628C>T	ENSP00000356646:p.Arg1274His		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R1274H	ENST00000367674.2	37	c.3821	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.485426	0.96323	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.78126	-1.15;-1.15	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.86896	0.6043	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86970	0.2097	10	0.62326	D	0.03	.	19.3551	0.94408	0.0:1.0:0.0:0.0	.	1274	Q92752	TENR_HUMAN	H	1274;1274;1184	ENSP00000356646:R1274H;ENSP00000263525:R1274H	ENSP00000263525:R1274H	R	-	2	0	TNR	173560251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.666000	0.90696	0.655000	0.94253	CGC	TNR	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000116147		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	88	0	C	NM_003285		175293628	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	22.22	70	20	SNP	1.000	T	T	175293628	C	T	175293628	3	4	58	1	0	0	0	0	1	0	0	0	16385	768	27	1	263	1	TNR	1	175293628	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2739424	175293628	73956993	208	14591											
PAPPA2	60676	genome.wustl.edu	37	chr1	176708821	176708821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttttgacaactgatggCctagttcccggagagcatca	10	13	9	9	1	1	3	1	2	0	1	2	4	2	3	2	2	2	2	2	2	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:176708821C>T	ENST00000367662.3	+	13	5022	c.3858C>T	c.(3856-3858)ggC>ggT	p.G1286G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1286					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAACTGATGGCCTAGTTCCCG	0.433																																																	0													69	68	68					1																	176708821		1930	4156	6086	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3858C>T	1.37:g.176708821C>T			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.G1286	ENST00000367662.3	37	c.3858	CCDS41438.1	1																																																																																			PAPPA2	-	NULL	ENSG00000116183		0.433	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	64	0	C			176708821	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	30.26	53	23	SNP	0.516	T	T	176708821	C	T	176708821	2	4	58	1	0	0	0	0	0	0	0	1	11472	726	26	3		3	PAPPA2	1	176708821	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1415193	176708821	72541800	209	14592											
ASTN1	460	genome.wustl.edu	37	chr1	176833508	176833508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcccggctgagctccGcccagtcaagtccgtagggt	6	8	14	13	3	1	2	1	2	0	0	4	2	4	2	4	3	1	3	4	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:176833508G>A	ENST00000367654.3	-	23	4032	c.3821C>T	c.(3820-3822)gCg>gTg	p.A1274V	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1266V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1274					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTGAGCTCCGCCCAGTCAAG	0.567																																																	0													103	101	101					1																	176833508		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3821C>T	1.37:g.176833508G>A	ENSP00000356626:p.Ala1274Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.A1274V	ENST00000367654.3	37	c.3821		1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944976	0.34283	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.09445	2.98;2.98	4.61	4.61	0.57282	.	0.407565	0.26048	N	0.026656	T	0.04318	0.0119	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43861	-0.9365	10	0.17832	T	0.49	-3.9374	8.6104	0.33800	0.1742:0.0:0.8257:0.0	.	1266	O14525-2	.	V	1266;1274	ENSP00000354536:A1266V;ENSP00000356626:A1274V	ENSP00000354536:A1266V	A	-	2	0	ASTN1	175100131	0.997000	0.39634	0.998000	0.56505	0.977000	0.68977	2.611000	0.46334	2.282000	0.76494	0.555000	0.69702	GCG	ASTN1	-	NULL	ENSG00000152092		0.567	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	64	0	G	NM_004319		176833508	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.976	A	A	176833508	G	A	176833508	3	1	58	1	0	0	0	0	1	0	0	0	1065	1087	38	1	91	1	ASTN1	1	176833508	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	124687	176833508	72417113	210	14593											
C1orf125	126859	genome.wustl.edu	37	chr1	179363073	179363073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttgaccagattgctcGgcagatgattgatttctaca	11	13	9	8	1	1	5	0	3	1	2	2	5	1	5	1	1	3	3	1	1	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:179363073G>A	ENST00000367618.3	+	10	1286	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R300Q	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	300										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CAGATTGCTCGGCAGATGATT	0.378																																																	0													135	130	132					1																	179363073		2203	4300	6503	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 125"	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.899G>A	1.37:g.179363073G>A	ENSP00000356590:p.Arg300Gln		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R300Q	ENST00000367618.3	37	c.899	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855971	0.51376	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.46819	2.16;0.86;2.18	5.51	-0.74	0.11115	.	0.544659	0.20963	N	0.082532	T	0.28896	0.0717	N	0.21448	0.665	0.23132	N	0.998243	B;B;B	0.29115	0.233;0.106;0.117	B;B;B	0.28011	0.085;0.059;0.014	T	0.15206	-1.0445	10	0.35671	T	0.21	-6.2042	9.6032	0.39617	0.4431:0.0:0.5569:0.0	.	258;300;300	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Q	300;258;300;234	ENSP00000356590:R300Q;ENSP00000416712:R300Q;ENSP00000391716:R234Q	ENSP00000353471:R258Q	R	+	2	0	AXDND1	177629696	0.003000	0.15002	0.960000	0.40013	0.561000	0.35649	0.467000	0.22035	-0.165000	0.10908	0.643000	0.83706	CGG	AXDND1	-	pfam_Axonemal_dynein_light_chain	ENSG00000162779		0.378	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	-	0	65	0	G	NM_144696		179363073	1	tier1	-	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	38.33	74	46	SNP	0.969	A	A	179363073	G	A	179363073	3	1	58	1	0	0	0	0	1	0	0	0	2000	1116	39	1	933	1	C1orf125	1	179363073	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2529565	179363073	69887548	211	14594											
FAM163A	148753	genome.wustl.edu	37	chr1	179783147	179783147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccccttttacatacggacGgctgacatggtgcccaatgg	8	10	10	13	2	0	1	0	1	0	0	1	2	1	2	3	4	3	1	3	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:179783147G>A	ENST00000341785.4	+	5	723	c.327G>A	c.(325-327)acG>acA	p.T109T	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	109						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						ACATACGGACGGCTGACATGG	0.637																																																	0													57	55	55					1																	179783147		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.327G>A	1.37:g.179783147G>A			A8K8R7	Silent	SNP	NULL	p.T109	ENST00000341785.4	37	c.327	CCDS1333.1	1																																																																																			FAM163A	-	NULL	ENSG00000143340		0.637	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM163A	HGNC	protein_coding	OTTHUMT00000085300.1	-	0	62	0	G	NM_173509		179783147	1	tier1	-	no_errors	ENST00000341785	ensembl	human	known	74_37	silent	36.23	44	25	SNP	0.977	A	A	179783147	G	A	179783147	2	1	58	1	0	0	0	0	0	0	0	1	5495	1103	39	1		1	FAM163A	1	179783147	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	420074	179783147	69467474	212	14595											
CEP350	9857	genome.wustl.edu	37	chr1	179993623	179993623	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccttcctctgtggatgtTacctcccagcattcatcagg	7	13	8	13	0	3	0	2	0	1	0	6	2	6	1	4	2	2	2	4	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:179993623T>C	ENST00000367607.3	+	14	3874	c.3456T>C	c.(3454-3456)gtT>gtC	p.V1152V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1152	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGTGGATGTTACCTCCCAGC	0.418																																																	0													110	95	100					1																	179993623		2203	4300	6503	SO:0001819	synonymous_variant	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3456T>C	1.37:g.179993623T>C			O75068|Q8TDK3|Q8WY20	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.V1152	ENST00000367607.3	37	c.3456	CCDS1336.1	1																																																																																			CEP350	-	NULL	ENSG00000135837		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0	42	0	T	NM_014810		179993623	1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	silent	19.32	71	17	SNP	0.004	C	C	179993623	T	C	179993623	2	2	58	1	0	0	0	0	0	0	0	1	3261	1741	61	4		4	CEP350	1	179993623	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	210476	179993623	69256998	213	14596											
LHX4	89884	genome.wustl.edu	37	chr1	180243372	180243372	+	Frame_Shift_Del	DEL	G	G	-																															aataggatttatggcaacgtGggggacgttacaggcggaca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:180243372delG	ENST00000263726.2	+	6	1075	c.831delG	c.(829-831)gtgfs	p.V277fs	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	277					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ATGGCAACGTGGGGGACGTTA	0.498																																																	0													102	97	99					1																	180243372		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"Homeoboxes / LIM class"	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.831delG	1.37:g.180243372delG	ENSP00000263726:p.Val277fs		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Frame_Shift_Del	DEL	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.D279fs	ENST00000263726.2	37	c.831	CCDS1338.1	1																																																																																			LHX4	-	NULL	ENSG00000121454		0.498	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2		0	59	0	G	NM_033343		180243372	1	tier1		no_errors	ENST00000263726	ensembl	human	known	74_37	frame_shift_del	24.29	53	17	DEL	1.000	-	-	180243372	G	-	180243372	7	5	58	1	0	1	0	1	0	0	0	0	8802	1335	47	0	853	0	LHX4	1	180243372	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	249749	180243372	69007249	214	14597											
KIAA1614	57710	genome.wustl.edu	37	chr1	180885573	180885574	+	Frame_Shift_Ins	INS	-	-	C																															tgcttcccaagagtggtcatINScccccaagaaaccccaatgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:180885573_180885574insC	ENST00000367588.4	+	2	389_390	c.334_335insC	c.(334-336)tccfs	p.S112fs		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	112										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGAGTGGTCATCCCCCAAGAAA	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.339dupC	1.37:g.180885578_180885578dupC	ENSP00000356560:p.Ser112fs		Q5VZ45|Q9HCF8	Frame_Shift_Ins	INS	NULL	p.K114fs	ENST00000367588.4	37	c.334_335	CCDS41442.1	1																																																																																			KIAA1614	-	NULL	ENSG00000135835		0.594	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1		0	85	0	-	XM_046531		180885574	1	tier1		no_errors	ENST00000367588	ensembl	human	known	74_37	frame_shift_ins	25.53	70	24	INS	0.003:0.003	C	C	180885574	-	C	180885573	7	5	58	1	0	1	1	0	0	0	0	0	8275	1435	50	0	340	0	KIAA1614	1	180885573	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	642201	180885573	68365048	215	14598											
CACNA1E	777	genome.wustl.edu	37	chr1	181687262	181687262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgtatggcatggggcctCgcctttattttcactcttca	7	15	9	10	1	3	1	2	0	1	1	4	1	3	1	2	3	0	2	2	3	2	6	rs373651535		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:181687262C>T	ENST00000367573.2	+	12	1597	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R533C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R140C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R533C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R484C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R533C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R484C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	533					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATGGGGCCTCGCCTTTATTT	0.453																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,3792		0,0,1896	115	108	110		1597,1597,1597	5.6	1	1		110	1,8239		0,1,4119	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	180,180,180	0,1,6015	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging	533/2271,533/2314,533/2252	181687262	1,12031	1896	4120	6016	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1597C>T	1.37:g.181687262C>T	ENSP00000356545:p.Arg533Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R533C	ENST00000367573.2	37	c.1597	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891248	0.91889	0.0	1.21E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.57	5.57	0.84162	.	0.095439	0.64402	D	0.000001	D	0.98943	0.9641	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99737	1.1014	10	0.87932	D	0	.	19.148	0.93476	0.0:1.0:0.0:0.0	.	533;533	Q15878-2;Q15878-3	.;.	C	533;533;484;484;140;533;533	ENSP00000356542:R533C;ENSP00000434814:R533C;ENSP00000350183:R484C;ENSP00000351101:R484C;ENSP00000356539:R140C;ENSP00000353222:R533C;ENSP00000356545:R533C	ENSP00000350183:R484C	R	+	1	0	CACNA1E	179953885	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.601000	0.61090	2.621000	0.88768	0.655000	0.94253	CGC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.453	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	67	0	C	NM_000721		181687262	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	10.81	99	12	SNP	1.000	T	T	181687262	C	T	181687262	3	4	58	1	0	0	0	0	1	0	0	0	2549	884	31	1	1643	1	CACNA1E	1	181687262	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	801689	181687262	67563359	216	14599											
CACNA1E	777	genome.wustl.edu	37	chr1	181726119	181726119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccaagccgcagcaacCgcatggagatgtctatcttt	10	8	11	12	2	2	1	0	0	2	1	2	3	2	1	3	2	3	3	3	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:181726119C>T	ENST00000367573.2	+	30	4186	c.4186C>T	c.(4186-4188)Cgc>Tgc	p.R1396C	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1377C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1396					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGCAGCAACCGCATGGAGAT	0.488																																																	0													180	188	186					1																	181726119		1965	4166	6131	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4186C>T	1.37:g.181726119C>T	ENSP00000356545:p.Arg1396Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1396C	ENST00000367573.2	37	c.4186	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205134	0.79127	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.75	5.75	0.90469	Ion transport (1);	0.050918	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.997	D	0.99782	1.1028	10	0.87932	D	0	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1377;1396;1396	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1396;1377;1347;1328;1003;1377;1396	ENSP00000356542:R1396C;ENSP00000434814:R1377C;ENSP00000350183:R1347C;ENSP00000351101:R1328C;ENSP00000356539:R1003C;ENSP00000353222:R1377C;ENSP00000356545:R1396C	ENSP00000350183:R1347C	R	+	1	0	CACNA1E	179992742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.134000	0.50538	2.716000	0.92895	0.655000	0.94253	CGC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.488	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	99	0	C	NM_000721		181726119	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	31.13	73	33	SNP	1.000	T	T	181726119	C	T	181726119	3	4	58	1	0	0	0	0	1	0	0	0	2549	652	23	1	4304	1	CACNA1E	1	181726119	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	38857	181726119	67524502	217	14600											
RNASEL	6041	genome.wustl.edu	37	chr1	182555824	182555824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcaattgctggaccaGgtcaacatcttcgttttgaa	10	13	8	10	1	2	1	1	1	1	0	4	2	3	2	2	2	3	3	2	2	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:182555824G>T	ENST00000367559.3	-	2	371	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	RNASEL_ENST00000539397.1_Missense_Mutation_p.L40M|RNASEL_ENST00000444138.1_Missense_Mutation_p.L40M	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	40					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGCTGGACCAGGTCAACATCT	0.517																																																	0													118	112	114					1																	182555824		2203	4300	6503	SO:0001583	missense	0			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.118C>A	1.37:g.182555824G>T	ENSP00000356530:p.Leu40Met		Q5W0L2|Q6AI46	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.L40M	ENST00000367559.3	37	c.118	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459783	0.26248	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.63744	-0.06;-0.06;-0.06	4.71	-4.65	0.03339	Ankyrin repeat-containing domain (3);	4.197200	0.00496	N	0.000157	T	0.48874	0.1524	L	0.38175	1.15	0.09310	N	1	B;B;B	0.28439	0.212;0.212;0.111	B;B;B	0.34824	0.19;0.19;0.056	T	0.33523	-0.9865	10	0.46703	T	0.11	3.2339	0.3937	0.00415	0.3138:0.1984:0.1278:0.3599	.	40;40;40	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	M	40	ENSP00000356530:L40M;ENSP00000411147:L40M;ENSP00000440844:L40M	ENSP00000356530:L40M	L	-	1	2	RNASEL	180822447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.612000	0.05616	-0.455000	0.07054	0.467000	0.42956	CTG	RNASEL	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000135828		0.517	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	HGNC	protein_coding	OTTHUMT00000085189.1	-	0	60	0	G	NM_021133		182555824	-1	tier1	-	no_errors	ENST00000367559	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.000	T	T	182555824	G	T	182555824	3	4	58	1	0	0	0	0	1	0	0	0	13461	991	35	3	2131	3	RNASEL	1	182555824	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	829705	182555824	66694797	218	14601											
LAMC2	3918	genome.wustl.edu	37	chr1	183196723	183196723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggtttctacaacgatccGcacgacccccgcagctgcaa	10	8	8	15	4	1	0	0	0	1	0	2	2	2	0	3	1	4	5	3	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:183196723G>A	ENST00000264144.4	+	10	1424	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	LAMC2_ENST00000493293.1_Silent_p.P453P	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	453	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACAACGATCCGCACGACCCCC	0.567																																																	0													137	129	132					1																	183196723		2203	4300	6503	SO:0001819	synonymous_variant	0			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"Laminins"	6493	protein-coding gene	gene with protein product		150292	"laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1359G>A	1.37:g.183196723G>A			Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.P453	ENST00000264144.4	37	c.1359	CCDS1352.1	1																																																																																			LAMC2	-	smart_EG-like_dom	ENSG00000058085		0.567	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	-	0	60	0	G	NM_005562		183196723	1	tier1	-	no_errors	ENST00000264144	ensembl	human	known	74_37	silent	24.59	46	15	SNP	0.001	A	A	183196723	G	A	183196723	2	1	58	1	0	0	0	0	0	0	0	1	8643	1074	38	1		1	LAMC2	1	183196723	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	640899	183196723	66053898	219	14602											
SMG7	9887	genome.wustl.edu	37	chr1	183515417	183515417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagaccgcaggggcaaacGgtcaccaggagtcttccgtc	10	6	12	13	3	2	1	1	0	1	1	4	2	3	2	3	4	1	2	3	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:183515417G>A	ENST00000347615.2	+	17	2806	c.2687G>A	c.(2686-2688)cGg>cAg	p.R896Q	SMG7_ENST00000367537.3_Missense_Mutation_p.R879Q|SMG7_ENST00000508461.1_Missense_Mutation_p.R854Q|SMG7_ENST00000507469.1_Missense_Mutation_p.R850Q|SMG7_ENST00000456731.2_Missense_Mutation_p.R808Q|SMG7_ENST00000515829.2_Missense_Mutation_p.R850Q	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	896					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGGGGCAAACGGTCACCAGGA	0.498																																																	0													85	90	88					1																	183515417		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2687G>A	1.37:g.183515417G>A	ENSP00000340766:p.Arg896Gln		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.R850Q	ENST00000347615.2	37	c.2549	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831764	0.71258	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.72	5.72	0.89469	.	0.516121	0.20606	N	0.089063	T	0.37156	0.0993	L	0.27053	0.805	0.50632	D	0.999887	D;D;B;P;P;D	0.65815	0.995;0.986;0.01;0.864;0.905;0.986	B;B;B;B;B;B	0.42959	0.403;0.313;0.004;0.211;0.147;0.313	T	0.17930	-1.0353	10	0.07644	T	0.81	-17.9376	19.8968	0.96969	0.0:0.0:1.0:0.0	.	854;879;808;850;896;850	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Q	808;879;854;896;850;850	ENSP00000407629:R808Q;ENSP00000356507:R879Q;ENSP00000426915:R854Q;ENSP00000340766:R896Q;ENSP00000425133:R850Q;ENSP00000421358:R850Q	ENSP00000340766:R896Q	R	+	2	0	SMG7	181782040	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.029000	0.64121	2.691000	0.91804	0.655000	0.94253	CGG	SMG7	-	NULL	ENSG00000116698		0.498	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	0	34	0	G	NM_014837		183515417	1	tier1	rs149950850	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	A	A	183515417	G	A	183515417	3	1	58	1	0	0	0	0	1	0	0	0	14843	1116	39	1	2753	1	SMG7	1	183515417	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	318694	183515417	65735204	220	14603											
SMG7	9887	genome.wustl.edu	37	chr1	183518965	183518965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgacatccagctccaaaGcagaactcagtccctcaatg	13	7	6	15	0	2	2	2	1	0	1	5	2	5	2	4	0	3	2	4	0	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:183518965G>T	ENST00000347615.2	+	19	3009	c.2890G>T	c.(2890-2892)Gca>Tca	p.A964S	SMG7_ENST00000367537.3_Missense_Mutation_p.A997S|SMG7_ENST00000508461.1_Missense_Mutation_p.A972S|SMG7_ENST00000507469.1_Missense_Mutation_p.A968S|SMG7_ENST00000456731.2_Missense_Mutation_p.A876S|SMG7_ENST00000515829.2_Missense_Mutation_p.A918S	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	964	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAGCTCCAAAGCAGAACTCAG	0.438																																																	0													123	116	118					1																	183518965		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2890G>T	1.37:g.183518965G>T	ENSP00000340766:p.Ala964Ser		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.A968S	ENST00000347615.2	37	c.2902	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777134	0.49786	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.66	4.74	0.60224	.	0.278186	0.35378	N	0.003244	T	0.18467	0.0443	N	0.14661	0.345	0.31153	N	0.705225	B;B;B;B;B	0.24483	0.104;0.02;0.013;0.044;0.049	B;B;B;B;B	0.22386	0.036;0.024;0.037;0.036;0.039	T	0.23368	-1.0190	10	0.06365	T	0.9	-7.7779	3.4124	0.07363	0.1052:0.1674:0.5543:0.1731	.	972;876;918;964;968	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	S	876;997;972;964;968;918	ENSP00000407629:A876S;ENSP00000356507:A997S;ENSP00000426915:A972S;ENSP00000340766:A964S;ENSP00000425133:A968S;ENSP00000421358:A918S	ENSP00000340766:A964S	A	+	1	0	SMG7	181785588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.416000	0.34759	1.355000	0.45865	0.655000	0.94253	GCA	SMG7	-	NULL	ENSG00000116698		0.438	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	0	46	0	G	NM_014837		183518965	1	tier1	-	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	183518965	G	T	183518965	3	4	58	1	0	0	0	0	1	0	0	0	14843	971	34	3	3118	3	SMG7	1	183518965	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3548	183518965	65731656	221	14604											
HMCN1	83872	genome.wustl.edu	37	chr1	186083133	186083133	+	Frame_Shift_Del	DEL	C	C	-																															cctccaaacataaaggggggCccccagagccttgtaattct																								rs373652814		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:186083133delC	ENST00000271588.4	+	73	11383	c.11154delC	c.(11152-11154)ggcfs	p.G3718fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.G3718fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3718	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAAGGGGGGCCCCCAGAGCC	0.413																																																	0													114	134	127					1																	186083133		2203	4300	6503	SO:0001589	frameshift_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11154delC	1.37:g.186083133delC	ENSP00000271588:p.Gly3718fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.Q3720fs	ENST00000271588.4	37	c.11154	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	48	0	C	NM_031935		186083133	1	tier1		no_errors	ENST00000271588	ensembl	human	known	74_37	frame_shift_del	28.89	32	13	DEL	0.991	-	-	186083133	C	-	186083133	7	5	58	1	0	1	0	1	0	0	0	0	7247	726	26	0	11444	0	HMCN1	1	186083133	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	2564168	186083133	63167488	222	14605											
CRB1	23418	genome.wustl.edu	37	chr1	197390734	197390734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgtaaggagaaatgcatCgcgaaagctcctactccact	12	9	8	12	2	0	1	0	0	0	1	4	3	3	1	3	1	3	3	3	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:197390734C>T	ENST00000367400.3	+	6	1911	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CRB1_ENST00000538660.1_Silent_p.I592I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.I523I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Silent_p.I73I|CRB1_ENST00000367399.2_Silent_p.I480I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	592	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I592M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAAATGCATCGCGAAAGCTC	0.468																																																	1	Substitution - Missense(1)	lung(1)											119	113	115					1																	197390734		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1776C>T	1.37:g.197390734C>T			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.I592	ENST00000367400.3	37	c.1776	CCDS1390.1	1																																																																																			CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2		0	29	0	C	NM_201253		197390734	1			no_errors	ENST00000367400	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.002	T	T	197390734	C	T	197390734	2	4	58	1	0	0	0	0	0	0	0	1	3855	874	31	1		1	CRB1	1	197390734	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	11307601	197390734	51859887	223	14606											
KIF14	9928	genome.wustl.edu	37	chr1	200586843	200586843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaactacagtttcttcttCgggaagaattgtattttctg	9	17	8	7	1	3	2	0	1	3	1	4	3	3	3	0	1	2	2	0	1	5	8	rs147387069		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200586843C>T	ENST00000367350.4	-	2	1447	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	337	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTCTTCTTCGGGAAGAATT	0.388																																																	0								C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	133	131	132		1009	2.4	0.1	1	dbSNP_134	132	0,8600		0,0,4300	no	missense	KIF14	NM_014875.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	337/1649	200586843	2,13004	2203	4300	6503	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1009G>A	1.37:g.200586843C>T	ENSP00000356319:p.Glu337Lys		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E337K	ENST00000367350.4	37	c.1009	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	9.471	1.095542	0.20471	4.54E-4	0.0	ENSG00000118193	ENST00000367350	T	0.72725	-0.68	5.48	2.41	0.29592	.	0.209202	0.33732	N	0.004619	T	0.46171	0.1379	N	0.17082	0.46	0.18873	N	0.999987	B	0.25312	0.123	B	0.12837	0.008	T	0.18147	-1.0346	10	0.22706	T	0.39	.	5.3799	0.16186	0.0:0.5056:0.3219:0.1725	.	337	Q15058	KIF14_HUMAN	K	337	ENSP00000356319:E337K	ENSP00000356319:E337K	E	-	1	0	KIF14	198853466	0.073000	0.21202	0.127000	0.21898	0.186000	0.23388	0.280000	0.18790	0.667000	0.31107	0.585000	0.79938	GAA	KIF14	-	NULL	ENSG00000118193		0.388	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	-	0	107	0	C	NM_014875		200586843	-1	tier1	rs147387069	no_errors	ENST00000367350	ensembl	human	known	74_37	missense	24.61	143	47	SNP	0.147	T	T	200586843	C	T	200586843	3	4	58	1	0	0	0	0	1	0	0	0	8303	893	31	1	4053	1	KIF14	1	200586843	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3196109	200586843	48663778	224	14607											
DDX59	83479	genome.wustl.edu	37	chr1	200619669	200619669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataattctcacaggattatGcagaagctggcttgctagct	11	12	10	8	0	1	1	1	0	1	1	2	3	1	2	0	2	4	5	0	2	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200619669G>A	ENST00000331314.6	-	5	1411	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	DDX59_ENST00000447706.2_Missense_Mutation_p.H400Y|DDX59_ENST00000367348.3_Missense_Mutation_p.H400Y	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	400	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACAGGATTATGCAGAAGCTGG	0.393																																																	0													94	88	90					1																	200619669		2203	4300	6503	SO:0001583	missense	0			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"Zinc fingers, HIT-type", "DEAD-boxes"	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1198C>T	1.37:g.200619669G>A	ENSP00000330460:p.His400Tyr		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.H400Y	ENST00000331314.6	37	c.1198	CCDS30964.1	1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382570	0.61845	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000331314;ENST00000433235;ENST00000453944	D;T;D;D;T;T	0.92199	-2.99;3.57;-2.99;-2.99;3.57;0.98	5.75	5.75	0.90469	DEAD-like helicase (2);	0.477402	0.25302	N	0.031644	D	0.88198	0.6372	L	0.37697	1.125	0.53688	D	0.999976	P;B	0.36789	0.57;0.091	B;B	0.33750	0.169;0.11	D	0.85739	0.1336	10	0.21540	T	0.41	-5.3361	19.9402	0.97155	0.0:0.0:1.0:0.0	.	400;400	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	Y	400;38;400;400;43;43	ENSP00000394367:H400Y;ENSP00000394304:H38Y;ENSP00000356317:H400Y;ENSP00000330460:H400Y;ENSP00000409954:H43Y;ENSP00000398152:H43Y	ENSP00000330460:H400Y	H	-	1	0	DDX59	198886292	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	6.707000	0.74654	2.720000	0.93068	0.573000	0.79308	CAT	DDX59	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000118197		0.393	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086883.2	-	0	63	0	G	NM_001031725.4		200619669	-1	tier1	-	no_errors	ENST00000331314	ensembl	human	known	74_37	missense	31.03	59	27	SNP	1.000	A	A	200619669	G	A	200619669	3	1	58	1	0	0	0	0	1	0	0	0	4385	1319	46	3	677	3	DDX59	1	200619669	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	32826	200619669	48630952	225	14608											
KIF21B	23046	genome.wustl.edu	37	chr1	200954050	200954050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagacattgcggtcattgCggggccgagtgggaggggat	9	7	19	6	3	1	2	1	0	0	2	1	5	1	4	1	6	2	0	1	6	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200954050C>T	ENST00000422435.2	-	27	4056	c.3740G>A	c.(3739-3741)cGc>cAc	p.R1247H	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1247H|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1247H|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1247H	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1247					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGGTCATTGCGGGGCCGAGT	0.617																																																	0													94	87	89					1																	200954050		2203	4300	6503	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3740G>A	1.37:g.200954050C>T	ENSP00000411831:p.Arg1247His		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R1247H	ENST00000422435.2	37	c.3740	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131585	0.77662	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72725	-0.33;-0.64;-0.68;-0.37	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	M	0.68593	2.085	0.54753	D	0.999985	B;B;B;B	0.16396	0.01;0.01;0.01;0.017	B;B;B;B	0.12156	0.005;0.005;0.003;0.007	T	0.69026	-0.5254	10	0.62326	D	0.03	.	19.5116	0.95144	0.0:1.0:0.0:0.0	.	1247;1247;1247;1247	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	H	1247	ENSP00000328494:R1247H;ENSP00000353724:R1247H;ENSP00000433808:R1247H;ENSP00000411831:R1247H	ENSP00000328494:R1247H	R	-	2	0	KIF21B	199220673	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	7.161000	0.77505	2.615000	0.88500	0.561000	0.74099	CGC	KIF21B	-	NULL	ENSG00000116852		0.617	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0	67	0	C	XM_371332		200954050	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	29.07	61	25	SNP	1.000	T	T	200954050	C	T	200954050	3	4	58	1	0	0	0	0	1	0	0	0	8316	768	27	1	1166	1	KIF21B	1	200954050	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	334381	200954050	48296571	226	14609											
KIF21B	23046	genome.wustl.edu	37	chr1	200956173	200956173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgcgagaccctgtcccGgtaataggggtctcggacag	7	7	16	11	4	1	1	0	0	1	1	3	3	2	2	2	5	1	1	2	5	2	2	rs376964063		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200956173G>A	ENST00000422435.2	-	25	3881	c.3565C>T	c.(3565-3567)Cgg>Tgg	p.R1189W	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1189W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1189W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1189W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1189					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1189W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACCCTGTCCCGGTAATAGGGG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											90	90	90					1																	200956173		2203	4300	6503	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"Kinesins", "WD repeat domain containing"	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3565C>T	1.37:g.200956173G>A	ENSP00000411831:p.Arg1189Trp		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R1189W	ENST00000422435.2	37	c.3565	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194568	0.78902	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73363	-0.41;-0.71;-0.74;-0.44	5.17	4.26	0.50523	.	0.061312	0.64402	D	0.000007	T	0.79639	0.4480	M	0.69823	2.125	0.41880	D	0.990316	D;D;D;D	0.71674	0.996;0.996;0.991;0.998	P;P;P;P	0.55965	0.619;0.727;0.518;0.788	T	0.80944	-0.1156	10	0.87932	D	0	.	8.3854	0.32497	0.0814:0.0:0.7254:0.1931	.	1189;1189;1189;1189	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	1189	ENSP00000328494:R1189W;ENSP00000353724:R1189W;ENSP00000433808:R1189W;ENSP00000411831:R1189W	ENSP00000328494:R1189W	R	-	1	2	KIF21B	199222796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.925000	0.48884	1.191000	0.43056	0.655000	0.94253	CGG	KIF21B	-	NULL	ENSG00000116852		0.587	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0	58	0	G	XM_371332		200956173	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	26.23	45	16	SNP	1.000	A	A	200956173	G	A	200956173	3	1	58	1	0	0	0	0	1	0	0	0	8316	1115	39	1	1349	1	KIF21B	1	200956173	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2123	200956173	48294448	227	14610											
CACNA1S	779	genome.wustl.edu	37	chr1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccgcctcaccttgcaaaCgggtcagccagagaggctgg	8	7	13	13	2	2	1	2	0	0	1	3	2	3	1	4	3	3	3	4	3	1	2	rs146696298		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:201052298C>T	ENST00000362061.3	-	10	1611	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R462H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	462					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78	66	70		1385	-0.9	0.1	1	dbSNP_134	70	0,8600		0,0,4300	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	462/1874	201052298	1,13005	2203	4300	6503	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1385G>A	1.37:g.201052298C>T	ENSP00000355192:p.Arg462His		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.R462H	ENST00000362061.3	37	c.1385	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.756982	0.00657	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.53	-0.908	0.10517	.	1.038830	0.07484	N	0.904426	D	0.89736	0.6801	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81165	-0.1057	10	0.17832	T	0.49	.	6.0446	0.19752	0.122:0.3748:0.0:0.5032	.	462	Q13698	CAC1S_HUMAN	H	462	ENSP00000355192:R462H;ENSP00000356307:R462H	ENSP00000355192:R462H	R	-	2	0	CACNA1S	199318921	0.000000	0.05858	0.073000	0.20177	0.029000	0.11900	0.171000	0.16685	-0.065000	0.13021	-1.246000	0.01523	CGT	CACNA1S	-	NULL	ENSG00000081248		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0	48	0	C	NM_000069		201052298	-1	tier1	rs146696298	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.000	T	T	201052298	C	T	201052298	3	4	58	1	0	0	0	0	1	0	0	0	2554	536	19	1	4376	1	CACNA1S	1	201052298	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	96125	201052298	48198323	228	14611											
IGFN1	91156	genome.wustl.edu	37	chr1	201179060	201179060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataggaagaatttgggggCtcctgagggaataggttcag	11	11	15	4	0	1	2	1	1	0	1	2	4	2	4	1	5	0	2	1	5	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:201179060C>T	ENST00000335211.4	+	12	5169	c.5039C>T	c.(5038-5040)gCt>gTt	p.A1680V	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATTTGGGGGCTCCTGAGGGA	0.488																																																	0													25	21	22					1																	201179060		692	1591	2283	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.5039C>T	1.37:g.201179060C>T	ENSP00000334714:p.Ala1680Val		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1680V	ENST00000335211.4	37	c.5039	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	-	2.277	-0.365578	0.05069	.	.	ENSG00000163395	ENST00000335211	D	0.88277	-2.36	2.03	-4.07	0.03975	.	.	.	.	.	T	0.71074	0.3297	N	0.08118	0	0.09310	N	0.999995	.	.	.	.	.	.	T	0.60265	-0.7297	6	.	.	.	.	5.1769	0.15139	0.3372:0.3247:0.338:0.0	rs58792551	.	.	.	V	1680	ENSP00000334714:A1680V	.	A	+	2	0	IGFN1	199445683	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-5.686000	0.00105	-0.259000	0.09432	0.306000	0.20318	GCT	IGFN1	-	NULL	ENSG00000163395		0.488	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0	124	0	C	NM_178275		201179060	1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	27.37	130	49	SNP	0.001	T	T	201179060	C	T	201179060	3	4	58	1	0	0	0	0	1	0	0	0	7617	797	28	3	5081	3	IGFN1	1	201179060	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	126762	201179060	48071561	229	14612											
LAD1	3898	genome.wustl.edu	37	chr1	201355590	201355590	+	Frame_Shift_Del	DEL	C	C	-																															ccttggtggtggctgggcttCccccagaggctggcggctcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:201355590delC	ENST00000391967.2	-	3	1200	c.899delG	c.(898-900)ggafs	p.G300fs	LAD1_ENST00000488842.1_5'Flank|LAD1_ENST00000367313.3_Frame_Shift_Del_p.G314fs	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	300						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCTGGGCTTCCCCCAGAGGC	0.662																																																	0													36	40	38					1																	201355590		2203	4300	6503	SO:0001589	frameshift_variant	0			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.899delG	1.37:g.201355590delC	ENSP00000375829:p.Gly300fs		O95614|Q96GD8	Frame_Shift_Del	DEL	pirsf_Ladinin_1	p.G314fs	ENST00000391967.2	37	c.941	CCDS1410.1	1																																																																																			LAD1	-	pirsf_Ladinin_1	ENSG00000159166		0.662	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	HGNC	protein_coding	OTTHUMT00000086946.1		0	114	0	C	NM_005558		201355590	-1	tier1		no_errors	ENST00000367313	ensembl	human	known	74_37	frame_shift_del	24.22	97	31	DEL	0.000	-	-	201355590	C	-	201355590	7	5	58	1	0	1	0	1	0	0	0	0	8627	855	30	0	686	0	LAD1	1	201355590	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	176530	201355590	47895031	230	14613											
LGR6	59352	genome.wustl.edu	37	chr1	202287187	202287187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactggtgctgctgaccGtgttcgctggcgggcctgtc	3	11	16	11	3	0	1	0	1	0	0	2	2	0	2	2	4	2	4	2	4	0	1	rs143028945	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:202287187G>A	ENST00000367278.3	+	18	1845	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M	LGR6_ENST00000255432.7_Missense_Mutation_p.V534M|LGR6_ENST00000439764.2_Missense_Mutation_p.V447M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	586					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGCTGACCGTGTTCGCTGG	0.617																																																	0								G	MET/VAL,MET/VAL,MET/VAL	3,4403	6.2+/-15.9	0,3,2200	106	94	98		1756,1339,1600	0.9	0.2	1	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense,missense	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	21,21,21	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	586/968,447/829,534/916	202287187	3,13003	2203	4300	6503	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1756G>A	1.37:g.202287187G>A	ENSP00000356247:p.Val586Met		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.V586M	ENST00000367278.3	37	c.1756	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941453	0.34283	6.81E-4	0.0	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.40225	1.04;1.04;1.04	5.5	0.863	0.19062	.	0.210733	0.40554	N	0.001077	T	0.44829	0.1312	L	0.47016	1.485	0.30205	N	0.798275	D;P;P	0.60575	0.988;0.763;0.896	P;B;P	0.55577	0.779;0.3;0.507	T	0.46762	-0.9168	10	0.59425	D	0.04	.	8.6329	0.33930	0.215:0.1138:0.6712:0.0	.	447;534;586	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	M	586;534;447	ENSP00000356247:V586M;ENSP00000255432:V534M;ENSP00000387869:V447M	ENSP00000255432:V534M	V	+	1	0	LGR6	200553810	0.997000	0.39634	0.236000	0.24074	0.928000	0.56348	2.553000	0.45837	0.282000	0.22254	0.485000	0.47835	GTG	LGR6	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn	ENSG00000133067		0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	-	0	82	0	G	NM_021636		202287187	1	tier1	rs143028945	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	19.84	101	25	SNP	0.516	A	A	202287187	G	A	202287187	3	1	58	1	0	0	0	0	1	0	0	0	8787	1145	40	1	1973	1	LGR6	1	202287187	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	931597	202287187	46963434	231	14614											
KDM5B	10765	genome.wustl.edu	37	chr1	202710852	202710853	+	Splice_Site	INS	-	-	A																															tacacgattcaagagatcctINSaaaaaaaaatacacaggttg																								rs555074098		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:202710852_202710853insA	ENST00000367265.3	-	19	3754		c.e19-2		KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAAGAGATCCTAAAAAAAAATA	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	18039	protein-coding gene	gene with protein product	"cancer/testis antigen 31", "protein phosphatase 1, regulatory subunit 98"	605393	"Jumonji, AT rich interactive domain 1B (RBP2-like)", "jumonji, AT rich interactive domain 1B"	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2590-2->T	1.37:g.202710861_202710861dupA			O95811|Q15752|Q9Y3Q5	Splice_Site	INS	-	e20-2	ENST00000367265.3	37	c.2698-3_2698-2	CCDS30974.1	1																																																																																			KDM5B	-	-	ENSG00000117139		0.361	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2		0	23	0	-	NM_006618	Intron	202710853	-1	tier1		no_errors	ENST00000367264	ensembl	human	known	74_37	splice_site_ins	22.41	45	13	INS	1.000:0.010	A	A	202710853	-	A	202710852	8	5	58	1	0	1	1	0	0	0	1	0	8161	1536	53	0	2082	0	KDM5B	1	202710852	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	423665	202710852	46539769	232	14615											
ATP2B4	493	genome.wustl.edu	37	chr1	203689833	203689833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtcaatgtggtggccGtgattgtagccttcactgga	7	13	12	9	1	3	1	3	1	0	0	3	2	3	2	2	3	1	1	2	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:203689833G>A	ENST00000357681.5	+	16	3686	c.2563G>A	c.(2563-2565)Gtg>Atg	p.V855M	ATP2B4_ENST00000367219.3_Missense_Mutation_p.V843M|ATP2B4_ENST00000367218.3_Missense_Mutation_p.V855M|ATP2B4_ENST00000341360.2_Missense_Mutation_p.V855M|ATP2B4_ENST00000391954.2_Missense_Mutation_p.V855M	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	855					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGGTGGCCGTGATTGTAGC	0.537																																																	0													165	138	147					1																	203689833		2203	4300	6503	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2563G>A	1.37:g.203689833G>A	ENSP00000350310:p.Val855Met		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.V855M	ENST00000357681.5	37	c.2563	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878575	0.51801	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78;-4.78	4.52	4.52	0.55395	ATPase, P-type,  transmembrane domain (1);	0.000000	0.46758	D	0.000262	D	0.98118	0.9379	M	0.71581	2.175	0.80722	D	1	P;D;P	0.61697	0.929;0.99;0.852	B;P;B	0.52267	0.182;0.694;0.054	D	0.99150	1.0858	10	0.87932	D	0	-19.8799	17.2006	0.86904	0.0:0.0:1.0:0.0	.	855;855;855	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	M	855;855;843;855;855	ENSP00000350310:V855M;ENSP00000356187:V855M;ENSP00000356188:V843M;ENSP00000375816:V855M;ENSP00000340930:V855M	ENSP00000340930:V855M	V	+	1	0	ATP2B4	201956456	1.000000	0.71417	0.997000	0.53966	0.465000	0.32709	9.807000	0.99171	2.215000	0.71742	0.655000	0.94253	GTG	ATP2B4	-	tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.537	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0	109	0	G	NM_001001396		203689833	1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	30.00	91	39	SNP	1.000	A	A	203689833	G	A	203689833	3	1	58	1	0	0	0	0	1	0	0	0	1143	1145	40	1	2621	1	ATP2B4	1	203689833	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	978981	203689833	45560788	233	14616											
PLEKHA6	22874	genome.wustl.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-																															aaggtcttcaggcgggggtaCcccccggcgcagattcaccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																																	2	Deletion - Frameshift(2)	large_intestine(2)											43	47	46					1																	204228411		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs		A7MD51|Q5VTI6	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V328fs	ENST00000272203.3	37	c.982	CCDS1444.1	1																																																																																			PLEKHA6	-	NULL	ENSG00000143850		0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3		0	38	0	C	NM_014935		204228411	-1	tier1		no_errors	ENST00000272203	ensembl	human	known	74_37	frame_shift_del	27.78	26	10	DEL	0.000	-	-	204228411	C	-	204228411	7	5	58	1	0	1	0	1	0	0	0	0	12099	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	538578	204228411	45022210	234	14617	59	2									
PLEKHA6	22874	genome.wustl.edu	37	chr1	204228416	204228416	+	Missense_Mutation	SNP	C	C	G																															cttcaggcgggggtacccccCggcgcagattcacccactgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:204228416C>G	ENST00000272203.3	-	8	1293	c.977G>C	c.(976-978)cGg>cCg	p.R326P	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R346P	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	326	Pro-rich.							p.V328fs*172(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGTACCCCCCGGCGCAGATT	0.627																																																	1	Deletion - Frameshift(1)	prostate(1)											45	49	48					1																	204228416		2203	4300	6503	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.977G>C	1.37:g.204228416C>G	ENSP00000272203:p.Arg326Pro		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R326P	ENST00000272203.3	37	c.977	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800472	0.90538	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.16324	2.35;2.78	5.45	5.45	0.79879	.	0.060278	0.64402	D	0.000003	T	0.42040	0.1185	M	0.64997	1.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.21008	-1.0258	10	0.72032	D	0.01	-22.4395	18.8805	0.92354	0.0:1.0:0.0:0.0	.	326	Q9Y2H5	PKHA6_HUMAN	P	326;346	ENSP00000272203:R326P;ENSP00000402046:R346P	ENSP00000272203:R326P	R	-	2	0	PLEKHA6	202495039	1.000000	0.71417	0.944000	0.38274	0.982000	0.71751	6.745000	0.74860	2.560000	0.86352	0.561000	0.74099	CGG	PLEKHA6	-	NULL	ENSG00000143850		0.627	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3		0	37	0	C	NM_014935		204228416	-1			no_errors	ENST00000272203	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	G	G	204228416	C	G	204228416	3	3	58	1	0	0	0	0	1	0	0	0	12099	652	23	5	2229	5	PLEKHA6	1	204228416	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5	204228416	45022205	235	14618	59	2									
CNTN2	6900	genome.wustl.edu	37	chr1	205031075	205031075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgtgcagccgccggCaagccccggcctacagtgcg	5	5	16	15	4	0	0	0	0	0	0	0	0	0	0	5	4	5	3	5	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:205031075C>T	ENST00000331830.4	+	9	1340	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	352	Ig-like C2-type 4.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCCGCCGGCAAGCCCCGGC	0.637											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(183;2548 2817 37099 41192)												0													23	26	25					1																	205031075		2181	4273	6454	SO:0001819	synonymous_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1056C>T	1.37:g.205031075C>T		2149	P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G352	ENST00000331830.4	37	c.1056	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000184144		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	-	0	54	0	C	NM_005076		205031075	1	tier1	-	no_errors	ENST00000331830	ensembl	human	known	74_37	silent	21.35	70	19	SNP	0.995	T	T	205031075	C	T	205031075	2	4	58	1	0	0	0	0	0	0	0	1	3648	697	25	3		3	CNTN2	1	205031075	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	802659	205031075	44219546	236	14619											
DSTYK	25778	genome.wustl.edu	37	chr1	205117339	205117339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtggctcttacccctccGcacattgttccagagatggt	6	13	9	13	1	1	1	0	0	1	1	3	2	3	1	4	2	1	3	4	2	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:205117339G>A	ENST00000367162.3	-	12	2626	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	DSTYK_ENST00000367160.4_Missense_Mutation_p.R525W|DSTYK_ENST00000367161.3_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTACCCCTCCGCACATTGTTC	0.532																																																	0													166	139	148					1																	205117339		2203	4300	6503	SO:0001583	missense	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"receptor interacting protein kinase 5"	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2596C>T	1.37:g.205117339G>A	ENSP00000356130:p.Arg866Trp		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R866W	ENST00000367162.3	37	c.2596	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724965	0.68959	.	.	ENSG00000133059	ENST00000367160;ENST00000367162	T;T	0.66638	-0.22;-0.22	5.85	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100416	0.64402	D	0.000003	T	0.79358	0.4432	M	0.72353	2.195	0.24479	N	0.994352	D	0.76494	0.999	D	0.70016	0.967	T	0.73685	-0.3905	10	0.54805	T	0.06	-23.7481	15.187	0.73009	0.0:0.0:0.4421:0.5579	.	866	Q6XUX3	DUSTY_HUMAN	W	525;866	ENSP00000356128:R525W;ENSP00000356130:R866W	ENSP00000356128:R525W	R	-	1	2	DSTYK	203383962	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	2.833000	0.48159	0.327000	0.23409	0.655000	0.94253	CGG	DSTYK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000133059		0.532	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	-	0	29	0	G	NM_015375		205117339	-1	tier1	-	no_errors	ENST00000367162	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.999	A	A	205117339	G	A	205117339	3	1	58	1	0	0	0	0	1	0	0	0	4799	1086	38	1	201	1	DSTYK	1	205117339	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	86264	205117339	44133282	237	14620											
NUAK2	81788	genome.wustl.edu	37	chr1	205273406	205273406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgcatgctgcttgaaGaagctgcacaccttggcccc	8	8	11	14	0	0	2	0	1	0	1	0	2	0	2	4	2	5	5	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:205273406G>T	ENST00000367157.3	-	7	1185	c.1059C>A	c.(1057-1059)ttC>ttA	p.F353L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTGCTTGAAGAAGCTGCACA	0.652																																																	0													51	50	50					1																	205273406		2203	4300	6503	SO:0001583	missense	0			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1059C>A	1.37:g.205273406G>T	ENSP00000356125:p.Phe353Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F353L	ENST00000367157.3	37	c.1059	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	G	7.686	0.690102	0.15039	.	.	ENSG00000163545	ENST00000367157	T	0.70164	-0.46	4.97	4.97	0.65823	Protein kinase-like domain (1);	0.000000	0.47455	D	0.000234	T	0.53318	0.1789	L	0.33668	1.02	0.49299	D	0.999776	B	0.15930	0.015	B	0.15052	0.012	T	0.52381	-0.8583	10	0.02654	T	1	.	17.8282	0.88672	0.0:0.0:1.0:0.0	.	353	Q9H093	NUAK2_HUMAN	L	353	ENSP00000356125:F353L	ENSP00000356125:F353L	F	-	3	2	NUAK2	203540029	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.779000	0.62375	2.294000	0.77228	0.511000	0.50034	TTC	NUAK2	-	superfamily_Kinase-like_dom	ENSG00000163545		0.652	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	-	0	37	0	G	NM_030952		205273406	-1	tier1	-	no_errors	ENST00000367157	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T	T	205273406	G	T	205273406	3	4	58	1	0	0	0	0	1	0	0	0	10752	933	33	3	831	3	NUAK2	1	205273406	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	156067	205273406	43977215	238	14621											
LGTN	1939	genome.wustl.edu	37	chr1	206765123	206765123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcacttcttcttgccaGgtttgagggccttttctaga	5	17	9	10	0	5	2	1	1	4	1	5	2	5	2	2	2	1	1	2	2	1	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:206765123G>A	ENST00000271764.2	-	15	1947	c.1739C>T	c.(1738-1740)cCt>cTt	p.P580L	EIF2D_ENST00000367114.3_Missense_Mutation_p.P456L|EIF2D_ENST00000472709.2_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	580					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTCTTGCCAGGTTTGAGGGC	0.468																																																	0													199	186	190					1																	206765123		2203	4300	6503	SO:0001583	missense	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1739C>T	1.37:g.206765123G>A	ENSP00000271764:p.Pro580Leu		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.P580L	ENST00000271764.2	37	c.1739	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883718	0.51908	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.44482	0.92;1.51	5.93	5.93	0.95920	.	0.440276	0.28047	N	0.016806	T	0.27241	0.0668	N	0.19112	0.55	0.46725	D	0.99917	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.08391	-1.0724	10	0.26408	T	0.33	-9.2483	10.5523	0.45097	0.0907:0.0:0.9093:0.0	.	456;580	P41214-2;P41214	.;EIF2D_HUMAN	L	456;580	ENSP00000356081:P456L;ENSP00000271764:P580L	ENSP00000271764:P580L	P	-	2	0	EIF2D	204831746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.998000	0.63927	2.805000	0.96524	0.655000	0.94253	CCT	EIF2D	-	NULL	ENSG00000143486		0.468	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	-	0	87	0	G	NM_006893		206765123	-1	tier1	-	no_errors	ENST00000271764	ensembl	human	known	74_37	missense	21.09	101	27	SNP	1.000	A	A	206765123	G	A	206765123	3	1	58	1	0	0	0	0	1	0	0	0	8789	1000	35	3	19	3	LGTN	1	206765123	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1491717	206765123	42485498	239	14622											
IL19	29949	genome.wustl.edu	37	chr1	207010076	207010076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctcagtagacaaccaCggtctcaggagatgtctgat	10	11	11	9	1	3	3	2	1	2	2	4	4	3	3	1	2	2	2	1	2	2	2	rs374799009		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207010076C>T	ENST00000270218.6	+	3	1008	c.69C>T	c.(67-69)caC>caT	p.H23H	IL19_ENST00000340758.2_Silent_p.H61H	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	23					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TAGACAACCACGGTCTCAGGA	0.458																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	190	179	183		69,183	-6.6	0	1		183	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IL19	NM_013371.3,NM_153758.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	23/178,61/216	207010076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.69C>T	1.37:g.207010076C>T			B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,prints_IL-19,prints_IL-24	p.H61	ENST00000270218.6	37	c.183	CCDS1469.1	1																																																																																			IL19	-	superfamily_4_helix_cytokine-like_core	ENSG00000142224		0.458	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL19	HGNC	protein_coding	OTTHUMT00000088567.2	-	0	53	0	C	NM_153758		207010076	1	tier1	-	no_errors	ENST00000340758	ensembl	human	known	74_37	silent	30.26	53	23	SNP	0.000	T	T	207010076	C	T	207010076	2	4	58	1	0	0	0	0	0	0	0	1	7676	535	19	1		1	IL19	1	207010076	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	244953	207010076	42240545	240	14623											
CR2	1380	genome.wustl.edu	37	chr1	207642015	207642018	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															ttggagaaaagatcattaacTgtttgtcttcgggaaaatgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207642015_207642018delTGTT	ENST00000367058.3	+	3	778_781	c.589_592delTGTT	c.(589-594)tgtttgfs	p.CL197fs	CR2_ENST00000367059.3_Frame_Shift_Del_p.CL197fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Del_p.CL197fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.CL197fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	197	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATCATTAACTGTTTGTCTTCGGG	0.422																																																	0																																										SO:0001589	frameshift_variant	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.589_592delTGTT	1.37:g.207642015_207642018delTGTT	ENSP00000356025:p.Cys197fs		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S199fs	ENST00000367058.3	37	c.589_592	CCDS1478.1	1																																																																																			CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.422	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1		0	127	0	TGTT	NM_001877		207642018	1	tier1		no_errors	ENST00000367057	ensembl	human	known	74_37	frame_shift_del	23.62	97	30	DEL	0.960:0.990:0.985:0.986	-	-	207642018	TGTT	-	207642015	7	5	58	1	0	1	0	1	0	0	0	0	3849	1580	55	0	599	0	CR2	1	207642015	Frame_Shift_Del	DEL	TGTT	TCGA-L5-A4OI-01A-11D-A27G-09	631939	207642015	41608606	241	14624											
CD46	4179	genome.wustl.edu	37	chr1	207930454	207930454	+	Frame_Shift_Del	DEL	A	A	-																															aacgagtagattataagtgtAaaaaaggatacttctatata																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207930454delA	ENST00000358170.2	+	2	349	c.193delA	c.(193-195)aaafs	p.K66fs	CD46_ENST00000367041.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000441839.2_Frame_Shift_Del_p.K66fs|CD46_ENST00000367047.1_Intron|CD46_ENST00000367042.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000354848.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000361067.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000322918.5_Frame_Shift_Del_p.K66fs|CD46_ENST00000357714.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000322875.4_Frame_Shift_Del_p.K66fs|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000360212.2_Frame_Shift_Del_p.K66fs	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	66	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TTATAAGTGTAAAAAAGGATA	0.413																																																	0													111	109	110					1																	207930454		2203	4300	6503	SO:0001589	frameshift_variant	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.193delA	1.37:g.207930454delA	ENSP00000350893:p.Lys66fs		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Frame_Shift_Del	DEL	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G67fs	ENST00000358170.2	37	c.193	CCDS1485.1	1																																																																																			CD46	-	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.413	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3		0	70	0	A	NM_172361		207930454	1	tier1		no_errors	ENST00000322875	ensembl	human	known	74_37	frame_shift_del	18.18	99	22	DEL	0.001	-	-	207930454	A	-	207930454	7	5	58	1	0	1	0	1	0	0	0	0	3025	363	13	0	199	0	CD46	1	207930454	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	288439	207930454	41320167	242	14625											
CD46	4179	genome.wustl.edu	37	chr1	207934699	207934699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttatagttgtgatcctgCacctggaccagatccatttt	10	14	7	10	0	0	2	0	1	0	1	2	3	2	3	4	1	2	2	4	1	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207934699C>T	ENST00000358170.2	+	5	737	c.581C>T	c.(580-582)gCa>gTa	p.A194V	CD46_ENST00000367041.1_Missense_Mutation_p.A194V|CD46_ENST00000441839.2_Missense_Mutation_p.A194V|CD46_ENST00000367047.1_Missense_Mutation_p.A131V|CD46_ENST00000367042.1_Missense_Mutation_p.A194V|CD46_ENST00000354848.1_Missense_Mutation_p.A194V|CD46_ENST00000361067.1_Missense_Mutation_p.A194V|CD46_ENST00000322918.5_Missense_Mutation_p.A194V|CD46_ENST00000357714.1_Missense_Mutation_p.A194V|CD46_ENST00000322875.4_Missense_Mutation_p.A194V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.A194V|CD46_ENST00000360212.2_Missense_Mutation_p.A194V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	194	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGTGATCCTGCACCTGGACCA	0.398																																																	0													153	131	138					1																	207934699		2203	4300	6503	SO:0001583	missense	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.581C>T	1.37:g.207934699C>T	ENSP00000350893:p.Ala194Val		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A194V	ENST00000358170.2	37	c.581	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013355	0.35511	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	4.85	-2.88	0.05682	Complement control module (2);Sushi/SCR/CCP (3);	1.967230	0.02652	N	0.106583	T	0.58090	0.2098	N	0.11756	0.17	0.09310	N	1	B;B;B;B;D;D;B;B;B;B;B;D;D;D	0.76494	0.3;0.015;0.15;0.3;0.995;0.999;0.3;0.15;0.3;0.376;0.3;0.998;0.998;0.999	B;B;B;B;P;D;B;B;B;B;B;D;D;D	0.70227	0.019;0.001;0.021;0.019;0.886;0.946;0.019;0.021;0.019;0.01;0.019;0.92;0.92;0.968	T	0.50642	-0.8804	10	0.40728	T	0.16	.	3.6319	0.08135	0.2775:0.3063:0.0:0.4161	.	194;194;194;194;194;194;194;194;194;194;194;194;194;194	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	194;194;194;194;194;194;194;131;194;194;194;194	ENSP00000350893:A194V;ENSP00000346912:A194V;ENSP00000314664:A194V;ENSP00000356009:A194V;ENSP00000356008:A194V;ENSP00000350346:A194V;ENSP00000313875:A194V;ENSP00000356014:A131V;ENSP00000413543:A194V;ENSP00000354358:A194V;ENSP00000353342:A194V;ENSP00000418471:A194V	ENSP00000313875:A194V	A	+	2	0	CD46	206001322	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-1.512000	0.02258	-0.416000	0.07473	0.585000	0.79938	GCA	CD46	-	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.398	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	-	0	98	0	C	NM_172361		207934699	1	tier1	-	no_errors	ENST00000322875	ensembl	human	known	74_37	missense	31.82	105	49	SNP	0.000	T	T	207934699	C	T	207934699	3	4	58	1	0	0	0	0	1	0	0	0	3025	710	25	3	599	3	CD46	1	207934699	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4245	207934699	41315922	243	14626											
PLXNA2	5362	genome.wustl.edu	37	chr1	208315787	208315787	+	Frame_Shift_Del	DEL	G	G	-																															ctcgtactggaccccaccatGggggggaccgtcggcccgaa																								rs200374067	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:208315787delG	ENST00000367033.3	-	4	2150	c.1393delC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCCCACCATGGGGGGGACCG	0.592																																																	1	Deletion - Frameshift(1)	large_intestine(1)											98	99	99					1																	208315787		2203	4300	6503	SO:0001589	frameshift_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1393delC	1.37:g.208315787delG	ENSP00000356000:p.His465fs		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.H465fs	ENST00000367033.3	37	c.1393	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0	63	0	G	NM_025179		208315787	-1	tier1		no_errors	ENST00000367033	ensembl	human	known	74_37	frame_shift_del	22.08	60	17	DEL	1.000	-	-	208315787	G	-	208315787	7	5	58	1	0	1	0	1	0	0	0	0	12159	1348	47	0	4407	0	PLXNA2	1	208315787	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	381088	208315787	40934834	244	14627											
C1orf107	27042	genome.wustl.edu	37	chr1	210006627	210006627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcacagatgcaaaacaCgagtcactgttcagcctgga	13	8	10	10	1	3	1	3	0	0	1	3	4	3	2	1	1	3	3	1	1	2	2	rs376855755		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:210006627C>T	ENST00000491415.2	+	4	543	c.486C>T	c.(484-486)caC>caT	p.H162H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	162	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ATGCAAAACACGAGTCACTGT	0.468																																																	0								C		0,4406		0,0,2203	117	107	110		486	-6.3	0.9	1		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DIEXF	NM_014388.6		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		162/757	210006627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.486C>T	1.37:g.210006627C>T			O75992|Q4VY00|Q63HL9	Silent	SNP	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.H162	ENST00000491415.2	37	c.486	CCDS1493.1	1																																																																																			DIEXF	-	NULL	ENSG00000117597		0.468	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	-	0	78	0	C	NM_014388		210006627	1	tier1	-	no_errors	ENST00000491415	ensembl	human	known	74_37	silent	32.58	60	29	SNP	0.826	T	T	210006627	C	T	210006627	2	4	58	1	0	0	0	0	0	0	0	1	1988	535	19	1		1	C1orf107	1	210006627	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1690840	210006627	39243994	245	14628											
KCNH1	3756	genome.wustl.edu	37	chr1	210948724	210948724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgtcagaatcaggttcCgggagaaggaatgggagaag	13	7	16	5	2	2	3	2	0	0	3	3	6	3	4	1	4	1	2	1	4	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:210948724C>T	ENST00000271751.4	-	10	2105	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.R666Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	693	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATCAGGTTCCGGGAGAAGGA	0.463																																																	0													88	82	84					1																	210948724		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2078G>A	1.37:g.210948724C>T	ENSP00000271751:p.Arg693Gln		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R693Q	ENST00000271751.4	37	c.2078	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.099675	0.94197	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96619	-4.07;-4.07	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.098306	0.64402	D	0.000003	D	0.95778	0.8626	M	0.73598	2.24	0.80722	D	1	P;P	0.46987	0.888;0.817	B;B	0.39971	0.295;0.315	D	0.96414	0.9306	10	0.72032	D	0.01	.	19.0974	0.93258	0.0:1.0:0.0:0.0	.	666;693	Q14CL3;O95259	.;KCNH1_HUMAN	Q	693;666	ENSP00000271751:R693Q;ENSP00000355974:R666Q	ENSP00000271751:R693Q	R	-	2	0	KCNH1	209015347	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.538000	0.82048	2.506000	0.84524	0.555000	0.69702	CGG	KCNH1	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG	ENSG00000143473		0.463	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0	58	0	C	NM_002238		210948724	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	37.63	58	35	SNP	1.000	T	T	210948724	C	T	210948724	3	4	58	1	0	0	0	0	1	0	0	0	8058	652	23	1	899	1	KCNH1	1	210948724	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	942097	210948724	38301897	246	14629											
TRAF5	7188	genome.wustl.edu	37	chr1	211545734	211545734	+	Frame_Shift_Del	DEL	G	G	-																															gaatggggatgggtcagggaGggggtcacacctgtccctat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:211545734delG	ENST00000261464.5	+	11	1418	c.1364delG	c.(1363-1365)aggfs	p.R455fs	TRAF5_ENST00000427925.2_Frame_Shift_Del_p.R349fs|TRAF5_ENST00000336184.2_Frame_Shift_Del_p.R455fs|TRAF5_ENST00000367004.3_Frame_Shift_Del_p.R455fs	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	455	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGGTCAGGGAGGGGGTCACAC	0.567																																																	0													102	97	99					1																	211545734		2203	4300	6503	SO:0001589	frameshift_variant	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1364delG	1.37:g.211545734delG	ENSP00000261464:p.Arg455fs		B4DIS9|B4E0A2|Q6FHY1	Frame_Shift_Del	DEL	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S457fs	ENST00000261464.5	37	c.1364	CCDS1497.1	1																																																																																			TRAF5	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000082512		0.567	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1		0	83	0	G	NM_004619		211545734	1	tier1		no_errors	ENST00000261464	ensembl	human	known	74_37	frame_shift_del	27.55	71	27	DEL	1.000	-	-	211545734	G	-	211545734	7	5	58	1	0	1	0	1	0	0	0	0	16492	1000	35	0	1402	0	TRAF5	1	211545734	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	597010	211545734	37704887	247	14630											
NEK2	4751	genome.wustl.edu	37	chr1	211847831	211847831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttctgtcatggagccatAgtcaagttctttccaaacta	11	13	7	10	0	4	0	2	0	2	0	5	1	5	1	2	1	3	2	2	1	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:211847831A>G	ENST00000366999.4	-	2	259	c.121T>C	c.(121-123)Tat>Cat	p.Y41H	NEK2_ENST00000366998.3_Missense_Mutation_p.Y41H|NEK2_ENST00000540251.1_5'UTR|RP11-122M14.1_ENST00000415202.1_RNA	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATGGAGCCATAGTCAAGTTCT	0.348																																																	0													44	39	41					1																	211847831		2203	4300	6503	SO:0001583	missense	0			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"HsPK 21", "protein phosphatase 1, regulatory subunit 111"	604043	"NIMA (never in mitosis gene a)-related kinase 2"			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.121T>C	1.37:g.211847831A>G	ENSP00000355966:p.Tyr41His		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y41H	ENST00000366999.4	37	c.121	CCDS1500.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392423	0.83011	.	.	ENSG00000117650	ENST00000366999;ENST00000366998	T;T	0.65549	-0.16;-0.16	4.45	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	L	0.39514	1.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.74627	-0.3602	10	0.72032	D	0.01	.	14.0275	0.64594	1.0:0.0:0.0:0.0	.	41;41;41	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	H	41	ENSP00000355966:Y41H;ENSP00000355965:Y41H	ENSP00000355965:Y41H	Y	-	1	0	NEK2	209914454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.999000	0.93557	1.767000	0.52121	0.482000	0.46254	TAT	NEK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000117650		0.348	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1	-	0	28	0	A	NM_002497		211847831	-1	tier1	-	no_errors	ENST00000366999	ensembl	human	novel	74_37	missense	18.46	52	12	SNP	1.000	G	G	211847831	A	G	211847831	3	3	58	1	0	0	0	0	1	0	0	0	10363	420	15	4	1244	4	NEK2	1	211847831	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	302097	211847831	37402790	248	14631											
DTL	51514	genome.wustl.edu	37	chr1	212254045	212254045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgataaactttccaCggtgggttgggcctctcaga	9	10	14	8	1	1	2	1	1	1	1	3	3	2	3	2	5	1	1	2	5	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:212254045C>T	ENST00000366991.4	+	13	1528	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.T363M	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	405					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAACTTTCCACGGTGGGTTGG	0.423																																																	0													129	141	137					1																	212254045		2203	4300	6503	SO:0001583	missense	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1214C>T	1.37:g.212254045C>T	ENSP00000355958:p.Thr405Met		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T405M	ENST00000366991.4	37	c.1214	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	c	8.030	0.761595	0.15914	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.72394	-0.58;-0.65	5.27	1.66	0.24008	.	0.833125	0.11023	N	0.608177	T	0.49847	0.1581	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33345	0.409;0.003;0.286	B;B;B	0.28638	0.092;0.002;0.042	T	0.20840	-1.0263	10	0.34782	T	0.22	-36.3814	9.593	0.39557	0.0:0.36:0.0:0.64	.	363;405;363	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	M	405;363;84	ENSP00000355958:T405M;ENSP00000443870:T363M	ENSP00000355958:T405M	T	+	2	0	DTL	210320668	0.370000	0.25047	0.785000	0.31869	0.507000	0.33981	1.412000	0.34714	-0.174000	0.10743	-0.810000	0.03169	ACG	DTL	-	NULL	ENSG00000143476		0.423	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	-	0	79	0	C	NM_016448		212254045	1	tier1	-	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	19.80	81	20	SNP	0.353	T	T	212254045	C	T	212254045	3	4	58	1	0	0	0	0	1	0	0	0	4801	536	19	1	1264	1	DTL	1	212254045	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	406214	212254045	36996576	249	14632											
FAM71A	149647	genome.wustl.edu	37	chr1	212798457	212798457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacgtaccagccccatcCtcccactcccagatgtcatg	8	9	6	18	1	1	1	1	0	0	1	4	1	4	1	6	0	3	2	6	0	1	2	rs374912338		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:212798457C>A	ENST00000294829.3	+	1	669	c.238C>A	c.(238-240)Ctc>Atc	p.L80I	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	80						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAGCCCCATCCTCCCACTCCC	0.557																																																	0								C	ILE/LEU	0,4406		0,0,2203	118	99	105		238	4.4	0.3	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM71A	NM_153606.3	5	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	80/595	212798457	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.238C>A	1.37:g.212798457C>A	ENSP00000294829:p.Leu80Ile		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.L80I	ENST00000294829.3	37	c.238	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742168	0.69418	0.0	1.16E-4	ENSG00000162771	ENST00000294829	T	0.07327	3.2	4.41	4.41	0.53225	.	0.231689	0.28192	N	0.016254	T	0.33789	0.0875	M	0.90483	3.12	0.22240	N	0.999262	D	0.89917	1.0	D	0.80764	0.994	T	0.18304	-1.0341	10	0.72032	D	0.01	-15.987	12.727	0.57176	0.0:1.0:0.0:0.0	.	80	Q8IYT1	FA71A_HUMAN	I	80	ENSP00000294829:L80I	ENSP00000294829:L80I	L	+	1	0	FAM71A	210865080	0.458000	0.25760	0.302000	0.25058	0.861000	0.49209	2.199000	0.42715	2.457000	0.83068	0.460000	0.39030	CTC	FAM71A	-	NULL	ENSG00000162771		0.557	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	-	0	83	0	C	NM_153606		212798457	1	tier1	-	no_errors	ENST00000294829	ensembl	human	known	74_37	missense	28.43	73	29	SNP	0.453	A	A	212798457	C	A	212798457	3	1	58	1	0	0	0	0	1	0	0	0	5629	681	24	3	240	3	FAM71A	1	212798457	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	544412	212798457	36452164	250	14633											
RPS6KC1	26750	genome.wustl.edu	37	chr1	213405564	213405564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataagtacatcatctctgaGgagtcagtatttcttgtgct	10	15	8	8	0	4	1	2	1	2	0	5	2	4	2	0	1	2	3	0	1	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:213405564G>T	ENST00000366960.3	+	10	1341	c.1191G>T	c.(1189-1191)gaG>gaT	p.E397D	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.E100D|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.E185D|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E385D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	397	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCATCTCTGAGGAGTCAGTAT	0.458																																																	0													321	266	284					1																	213405564		2203	4300	6503	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"ribosomal protein S6 kinase, 52kD, polypeptide 1"			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1191G>T	1.37:g.213405564G>T	ENSP00000355927:p.Glu397Asp		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom	p.E397D	ENST00000366960.3	37	c.1191	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012303	0.54468	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.61	4.67	0.58626	.	0.052266	0.85682	D	0.000000	T	0.44623	0.1302	M	0.65320	2	0.54753	D	0.999986	D;P;P	0.89917	1.0;0.874;0.874	D;P;P	0.87578	0.998;0.471;0.471	T	0.29305	-1.0016	10	0.38643	T	0.18	-14.0031	10.0548	0.42239	0.0716:0.1387:0.7897:0.0	.	185;397;385	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	D	185;397;385;100	ENSP00000442306:E185D;ENSP00000355927:E397D;ENSP00000355926:E385D;ENSP00000439282:E100D	ENSP00000355926:E385D	E	+	3	2	RPS6KC1	211472187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.223000	0.51231	1.448000	0.47680	0.460000	0.39030	GAG	RPS6KC1	-	superfamily_Kinase-like_dom	ENSG00000136643		0.458	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	-	0	184	0	G	NM_012424		213405564	1	tier1	-	no_errors	ENST00000366960	ensembl	human	known	74_37	missense	27.31	173	65	SNP	1.000	T	T	213405564	G	T	213405564	3	4	58	1	0	0	0	0	1	0	0	0	13703	991	35	3	1229	3	RPS6KC1	1	213405564	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	607107	213405564	35845057	251	14634											
PTPN14	5784	genome.wustl.edu	37	chr1	214560191	214560191	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagccagagttaccttgCgaggtgtgcgtttccgagta	8	10	14	9	3	0	1	0	0	0	1	1	3	1	1	3	2	4	4	3	2	3	4	rs377258229		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:214560191C>T	ENST00000366956.5	-	12	1256	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	354					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGTTACCTTGCGAGGTGTGCG	0.493													C|||	1	0.000199681	0	0	5008	,	,		22169	0		0	False		,,,				2504	0.001				Colon(92;557 1424 24372 34121 40073)												0								C		0,4406		0,0,2203	90	71	77		1062	-11.1	0	1		77	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	PTPN14	NM_005401.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		354/1188	214560191	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1062G>A	1.37:g.214560191C>T			Q5VSI0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.S354	ENST00000366956.5	37	c.1062	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.493	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0	91	0	C	NM_005401		214560191	-1	tier1	-	no_errors	ENST00000366956	ensembl	human	known	74_37	silent	14.81	115	20	SNP	0.007	T	T	214560191	C	T	214560191	2	4	58	1	0	0	0	0	0	0	0	1	12826	755	27	1		1	PTPN14	1	214560191	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1154627	214560191	34690430	252	14635											
MARK1	4139	genome.wustl.edu	37	chr1	220825486	220825486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacggctctgaagcttaccGgcctgggtaatgtgttggtt	7	12	14	8	2	1	2	0	1	1	1	1	2	1	2	2	4	2	5	2	4	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:220825486G>T	ENST00000366917.4	+	15	1996	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	MARK1_ENST00000366918.4_Missense_Mutation_p.R555L|MARK1_ENST00000402574.1_Missense_Mutation_p.R442L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAGCTTACCGGCCTGGGTAA	0.438																																																	0													122	114	117					1																	220825486		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1730G>T	1.37:g.220825486G>T	ENSP00000355884:p.Arg577Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R577L	ENST00000366917.4	37	c.1730	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802659	0.70682	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.28666	1.6;1.6;1.6	5.74	5.74	0.90152	.	0.143972	0.49305	D	0.000149	T	0.32041	0.0816	L	0.46157	1.445	0.48511	D	0.999668	B;B;B;B	0.30104	0.268;0.081;0.0;0.001	B;B;B;B	0.25506	0.061;0.045;0.002;0.001	T	0.04781	-1.0927	10	0.51188	T	0.08	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	577;442;577;555	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	442;555;577	ENSP00000386017:R442L;ENSP00000355885:R555L;ENSP00000355884:R577L	ENSP00000355884:R577L	R	+	2	0	MARK1	218892109	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.861000	0.69553	2.873000	0.98535	0.563000	0.77884	CGG	MARK1	-	NULL	ENSG00000116141		0.438	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	64	0	G			220825486	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	6.52	86	6	SNP	1.000	T	T	220825486	G	T	220825486	3	4	58	1	0	0	0	0	1	0	0	0	9350	1116	39	2	1788	2	MARK1	1	220825486	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6265295	220825486	28425135	253	14636											
HLX	3142	genome.wustl.edu	37	chr1	221054587	221054587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccggggtgcacctctcagGcctgcagccctcggccggcc	3	5	14	19	4	1	0	1	0	1	0	3	0	1	0	6	5	3	2	6	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:221054587G>T	ENST00000366903.6	+	2	2145	c.644G>T	c.(643-645)gGc>gTc	p.G215V	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	215					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CACCTCTCAGGCCTGCAGCCC	0.567																																																	0													111	119	117					1																	221054587		2203	4300	6503	SO:0001583	missense	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.644G>T	1.37:g.221054587G>T	ENSP00000355870:p.Gly215Val		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.G215V	ENST00000366903.6	37	c.644	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877629	0.33162	.	.	ENSG00000136630	ENST00000366903	D	0.89939	-2.59	5.82	3.89	0.44902	.	0.434509	0.21712	N	0.070244	T	0.74076	0.3669	N	0.08118	0	0.58432	D	0.999999	B	0.30763	0.294	B	0.24974	0.057	T	0.69522	-0.5123	10	0.16420	T	0.52	-32.0027	10.6288	0.45523	0.0786:0.3487:0.5727:0.0	.	215	Q14774	HLX_HUMAN	V	215	ENSP00000355870:G215V	ENSP00000355870:G215V	G	+	2	0	HLX	219121210	0.993000	0.37304	0.963000	0.40424	0.462000	0.32619	0.552000	0.23376	1.459000	0.47892	0.561000	0.74099	GGC	HLX	-	NULL	ENSG00000136630		0.567	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	-	0	70	0	G	NM_021958		221054587	1	tier1	-	no_errors	ENST00000366903	ensembl	human	known	74_37	missense	6.52	85	6	SNP	0.765	T	T	221054587	G	T	221054587	3	4	58	1	0	0	0	0	1	0	0	0	7243	1203	42	3	650	3	HLX	1	221054587	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	229101	221054587	28196034	254	14637											
SUSD4	55061	genome.wustl.edu	37	chr1	223408392	223408392	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaagcacagcagctgccaAcctgatgtgtgggaaataaa	16	7	10	8	0	0	1	0	1	0	0	0	2	0	2	2	1	5	3	2	1	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:223408392A>T	ENST00000343846.3	-	5	1358				SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.L259M|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCAGCTGCCAACCTGATGTGT	0.423																																																	0													114	105	108					1																	223408392		2203	4300	6503	SO:0001627	intron_variant	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5662T>A	1.37:g.223408392A>T			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L259M	ENST00000343846.3	37	c.775	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	A	7.902	0.734630	0.15574	.	.	ENSG00000143502	ENST00000344029	T	0.34667	1.35	2.34	-4.68	0.03309	.	.	.	.	.	T	0.16300	0.0392	.	.	.	0.09310	N	1	B	0.22851	0.076	B	0.11329	0.006	T	0.18272	-1.0342	8	0.31617	T	0.26	.	0.7474	0.00984	0.2782:0.18:0.3627:0.1791	.	259	Q5VX71-3	.	M	259	ENSP00000339926:L259M	ENSP00000339926:L259M	L	-	1	2	SUSD4	221475015	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.467000	0.06664	-1.155000	0.02822	-0.479000	0.04858	TTG	SUSD4	-	NULL	ENSG00000143502		0.423	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	-	0	18	0	A	NM_017982		223408392	-1	tier1	-	no_errors	ENST00000344029	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.000	T	T	223408392	A	T	223408392	1	4	58	0	1	0	0	0	0	0	0	0	15457	40	2	5		5	SUSD4	1	223408392	Intron	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2353805	223408392	25842229	255	14638											
LBR	3930	genome.wustl.edu	37	chr1	225592358	225592358	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatcactgggatttttccGgaatgcatttttctgagaat	9	16	10	6	1	2	1	1	1	1	1	3	5	3	4	1	3	1	1	1	3	2	4	rs373561199		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:225592358G>T	ENST00000338179.2	-	12	1659	c.1534C>A	c.(1534-1536)Cgg>Agg	p.R512R	LBR_ENST00000272163.4_Silent_p.R512R	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	512					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGATTTTTCCGGAATGCATTT	0.289																																																	0													69	71	70					1																	225592358		2202	4299	6501	SO:0001819	synonymous_variant	0			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"Tudor domain containing"	6518	protein-coding gene	gene with protein product	"tudor domain containing 18"	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1534C>A	1.37:g.225592358G>T			B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.R512	ENST00000338179.2	37	c.1534	CCDS1545.1	1																																																																																			LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295	ENSG00000143815		0.289	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	-	0	42	0	G	NM_002296		225592358	-1	tier1	-	no_errors	ENST00000272163	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	225592358	G	T	225592358	2	4	58	1	0	0	0	0	0	0	0	1	8680	1115	39	2		2	LBR	1	225592358	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2183966	225592358	23658263	256	14639											
ITPKB	3707	genome.wustl.edu	37	chr1	226924171	226924171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggtcctcaagctcacggGctctcccagacggctcagtg	7	7	12	15	2	4	1	3	0	1	1	6	1	5	1	2	3	1	4	2	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:226924171G>T	ENST00000272117.3	-	1	988	c.989C>A	c.(988-990)gCc>gAc	p.A330D	ITPKB_ENST00000366784.1_Missense_Mutation_p.A330D|ITPKB_ENST00000429204.1_Missense_Mutation_p.A330D			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	330					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AAGCTCACGGGCTCTCCCAGA	0.647																																					Colon(84;110 1851 5306 33547)												0													40	48	45					1																	226924171		2203	4300	6503	SO:0001583	missense	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.989C>A	1.37:g.226924171G>T	ENSP00000272117:p.Ala330Asp		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.A330D	ENST00000272117.3	37	c.989	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798459	0.16397	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25414	1.82;1.82;1.8	4.01	-3.01	0.05463	.	2.418180	0.01498	N	0.017384	T	0.13200	0.0320	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.11155	-1.0599	10	0.12766	T	0.61	.	2.6823	0.05098	0.1793:0.371:0.3212:0.1286	.	330	P27987	IP3KB_HUMAN	D	330	ENSP00000272117:A330D;ENSP00000411152:A330D;ENSP00000355748:A330D	ENSP00000272117:A330D	A	-	2	0	ITPKB	224990794	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.049000	0.11924	-0.225000	0.09913	0.561000	0.74099	GCC	ITPKB	-	NULL	ENSG00000143772		0.647	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0	70	0	G	NM_002221		226924171	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	missense	5.49	86	5	SNP	0.000	T	T	226924171	G	T	226924171	3	4	58	1	0	0	0	0	1	0	0	0	7945	1203	42	3	1879	3	ITPKB	1	226924171	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1331813	226924171	22326450	257	14640											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227219077	227219077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaacatagactgagcGgtctctgaatttgtttttct	8	17	10	6	1	2	3	0	2	2	1	3	4	2	4	0	2	2	1	0	2	3	5	rs373032133		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227219077G>A	ENST00000366769.3	-	27	4883	c.3592C>T	c.(3592-3594)Cgc>Tgc	p.R1198C	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1178C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1211C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1198C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1170C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1233C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1117C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAGACTGAGCGGTCTCTGAAT	0.413																																																	0													162	162	162					1																	227219077		2203	4300	6503	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3592C>T	1.37:g.227219077G>A	ENSP00000355731:p.Arg1198Cys			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R1198C	ENST00000366769.3	37	c.3592	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.200149|5.200149	0.94997|0.94997	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.68903	.|-0.32;-0.31;-0.34;-0.32;-0.36;-0.34;-0.31	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83806|0.83806	0.5334|0.5334	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.999;0.978;0.932;0.943;0.994;0.954;0.954;0.987	D|D	0.85189|0.85189	0.1008|0.1008	5|10	.|0.87932	.|D	.|0	.|.	19.8579|19.8579	0.96771|0.96771	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1178;1170;513;95;1117;1198;1233;400	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	L|C	400;526;95;422|1198;1117;1198;1233;1170;513;1178;1211	.|ENSP00000355731:R1198C;ENSP00000355729:R1117C;ENSP00000335341:R1198C;ENSP00000355728:R1233C;ENSP00000355726:R1170C;ENSP00000443275:R1178C;ENSP00000355727:R1211C	.|ENSP00000335341:R1198C	P|R	-|-	2|1	0|0	CDC42BPA|CDC42BPA	225285700|225285700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.894000|7.894000	0.87336|0.87336	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	CCG|CGC	CDC42BPA	-	NULL	ENSG00000143776		0.413	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0	31	0	G	NM_014826		227219077	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	20.83	38	10	SNP	1.000	A	A	227219077	G	A	227219077	3	1	58	1	0	0	0	0	1	0	0	0	3079	1116	39	1	1607	1	CDC42BPA	1	227219077	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	294906	227219077	22031544	258	14641											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227288919	227288919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctatgctgcatactcctgGtgagtaactaatttgttttt	8	19	7	7	0	1	1	0	1	1	0	2	1	2	1	1	1	4	4	1	1	4	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227288919G>T	ENST00000366769.3	-	15	3314	c.2023C>A	c.(2023-2025)Cca>Aca	p.P675T	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P675T|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P594T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P675T(2)|p.P594T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATACTCCTGGTGAGTAACTA	0.259																																																	3	Substitution - Missense(3)	endometrium(3)											66	67	66					1																	227288919		2199	4293	6492	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2023C>A	1.37:g.227288919G>T	ENSP00000355731:p.Pro675Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P675T	ENST00000366769.3	37	c.2023	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.254280	0.22965	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.64803	-0.1;-0.1;-0.1;-0.11;-0.12;-0.09;-0.08	5.57	5.57	0.84162	.	0.211271	0.49916	D	0.000132	T	0.59321	0.2185	L	0.55481	1.735	0.42055	D	0.991132	B;B;B;B	0.15473	0.01;0.001;0.004;0.013	B;B;B;B	0.15484	0.007;0.003;0.013;0.008	T	0.55464	-0.8137	10	0.16896	T	0.51	.	19.5667	0.95397	0.0:0.0:1.0:0.0	.	675;675;594;675	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	T	675;594;675;675;675;675;675	ENSP00000355731:P675T;ENSP00000355729:P594T;ENSP00000335341:P675T;ENSP00000355728:P675T;ENSP00000355726:P675T;ENSP00000443275:P675T;ENSP00000355727:P675T	ENSP00000335341:P675T	P	-	1	0	CDC42BPA	225355542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.439000	0.44846	2.604000	0.88044	0.645000	0.84053	CCA	CDC42BPA	-	NULL	ENSG00000143776		0.259	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0	58	0	G	NM_014826		227288919	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	T	T	227288919	G	T	227288919	3	4	58	1	0	0	0	0	1	0	0	0	3079	1261	44	3	3224	3	CDC42BPA	1	227288919	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	69842	227288919	21961702	259	14642											
SNAP47	116841	genome.wustl.edu	37	chr1	227935790	227935790	+	Frame_Shift_Del	DEL	G	G	-																															cgcatctgtcccaaggacccGgggcgaggagctgacgggac																								rs200031076	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227935790delG	ENST00000366759.4	+	2	902	c.488delG	c.(487-489)cggfs	p.R163fs	SNAP47_ENST00000315781.5_Frame_Shift_Del_p.R163fs|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	163	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCAAGGACCCGGGGCGAGGAG	0.627																																																	0													40	40	40					1																	227935790		2203	4300	6503	SO:0001589	frameshift_variant	0			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 142"	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.488delG	1.37:g.227935790delG	ENSP00000355721:p.Arg163fs		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Frame_Shift_Del	DEL	pfscan_T_SNARE_dom	p.G164fs	ENST00000366759.4	37	c.488	CCDS1562.1	1																																																																																			SNAP47	-	NULL	ENSG00000143740		0.627	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091961.1		0	60	0	G	NM_053052		227935790	1	tier1		no_errors	ENST00000366759	ensembl	human	known	74_37	frame_shift_del	15.79	48	9	DEL	1.000	-	-	227935790	G	-	227935790	7	5	58	1	0	1	0	1	0	0	0	0	14877	1116	39	0	494	0	SNAP47	1	227935790	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	646871	227935790	21314831	260	14643											
OBSCN	84033	genome.wustl.edu	37	chr1	228402129	228402129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgtccacccagttctgcGtgtcgggtgagggcctgagg	6	8	16	11	3	1	3	0	2	1	1	3	3	2	3	3	3	1	1	3	3	0	1	rs375898060		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228402129G>A	ENST00000422127.1	+	4	1557	c.1513G>A	c.(1513-1515)Gtg>Atg	p.V505M	C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Missense_Mutation_p.V505M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V505M|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	505	Ig-like 5.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGTTCTGCGTGTCGGGTGA	0.647																																																	0								G	MET/VAL,MET/VAL	0,4328		0,0,2164	70	80	77		1513,1513	5.1	1	1		77	2,8484		0,2,4241	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,2,6405	AA,AG,GG		0.0236,0.0,0.0156	probably-damaging,probably-damaging	505/7969,505/6621	228402129	2,12812	2164	4243	6407	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1513G>A	1.37:g.228402129G>A	ENSP00000409493:p.Val505Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V505M	ENST00000422127.1	37	c.1513	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014102	0.75161	0.0	2.36E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.69561	-0.05;-0.41	5.14	5.14	0.70334	Fibronectin, type III (1);	0.000000	0.64402	D	0.000005	D	0.85843	0.5791	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88163	0.2859	10	0.51188	T	0.08	.	18.5794	0.91166	0.0:0.0:1.0:0.0	.	505;505	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	505	ENSP00000284548:V505M;ENSP00000409493:V505M	ENSP00000284548:V505M	V	+	1	0	OBSCN	226468752	1.000000	0.71417	0.989000	0.46669	0.863000	0.49368	7.542000	0.82095	2.377000	0.81083	0.563000	0.77884	GTG	OBSCN	-	superfamily_Fibronectin_type3,smart_Ig_sub	ENSG00000154358		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	124	0	G	NM_052843		228402129	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	21.49	95	26	SNP	1.000	A	A	228402129	G	A	228402129	3	1	58	1	0	0	0	0	1	0	0	0	10851	1145	40	1	1523	1	OBSCN	1	228402129	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	466339	228402129	20848492	261	14644											
OBSCN	84033	genome.wustl.edu	37	chr1	228552687	228552687	+	Frame_Shift_Del	DEL	C	C	-																															cctgtctcccagcagccgtgCccccgagggtgccacagccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228552687delC	ENST00000422127.1	+	81	18891	c.18847delC	c.(18847-18849)cccfs	p.P6284fs	OBSCN_ENST00000366707.4_Frame_Shift_Del_p.P3918fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.P7241fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6284					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCAGCCGTGCCCCCGAGGGT	0.662																																																	0													13	19	17					1																	228552687		2095	4197	6292	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18847delC	1.37:g.228552687delC	ENSP00000409493:p.Pro6284fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P6284fs	ENST00000422127.1	37	c.18847	CCDS58065.1	1																																																																																			OBSCN	-	NULL	ENSG00000154358		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0	122	0	C	NM_052843		228552687	1	tier1		no_errors	ENST00000422127	ensembl	human	known	74_37	frame_shift_del	23.48	101	31	DEL	0.000	-	-	228552687	C	-	228552687	7	5	58	1	0	1	0	1	0	0	0	0	10851	739	26	0	20375	0	OBSCN	1	228552687	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	150558	228552687	20697934	262	14645											
OBSCN	84033	genome.wustl.edu	37	chr1	228560743	228560743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagagtgaaggcctccGtggagcacatctcccggatc	9	7	14	11	2	1	3	0	2	1	1	4	6	2	5	3	3	1	1	3	3	1	0	rs375115158		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228560743G>A	ENST00000422127.1	+	94	22308	c.22264G>A	c.(22264-22266)Gtg>Atg	p.V7422M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V5056M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V8379M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7422					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAAGGCCTCCGTGGAGCACAT	0.652																																																	0								G	MET/VAL	0,4170		0,0,2085	21	25	24		22264	2.3	0.5	1		24	1,8397		0,1,4198	no	missense	OBSCN	NM_001098623.1	21	0,1,6283	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	7422/7969	228560743	1,12567	2085	4199	6284	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22264G>A	1.37:g.228560743G>A	ENSP00000409493:p.Val7422Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V7422M	ENST00000422127.1	37	c.22264	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.94|19.94	3.920225|3.920225	0.73098|0.73098	0.0|0.0	1.19E-4|1.19E-4	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.71222	.|-0.55;-0.52	5.44|5.44	2.33|2.33	0.28932|0.28932	.|.	.|.	.|.	.|.	.|.	T|T	0.45034|0.45034	0.1322|0.1322	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P	.|0.35793	.|0.521	.|B	.|0.18561	.|0.022	T|T	0.18999|0.18999	-1.0319|-1.0319	5|9	.|0.34782	.|T	.|0.22	.|.	5.8378|5.8378	0.18617|0.18617	0.3865:0.0:0.6135:0.0|0.3865:0.0:0.6135:0.0	.|.	.|7422	.|Q5VST9	.|OBSCN_HUMAN	H|M	2038|7422;5056	.|ENSP00000409493:V7422M;ENSP00000355668:V5056M	.|ENSP00000355668:V5056M	R|V	+|+	2|1	0|0	OBSCN|OBSCN	226627366|226627366	0.724000|0.724000	0.28038|0.28038	0.486000|0.486000	0.27416|0.27416	0.736000|0.736000	0.42039|0.42039	0.949000|0.949000	0.29109|0.29109	0.156000|0.156000	0.19299|0.19299	0.462000|0.462000	0.41574|0.41574	CGT|GTG	OBSCN	-	NULL	ENSG00000154358		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	32	0	G	NM_052843		228560743	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.792	A	A	228560743	G	A	228560743	3	1	58	1	0	0	0	0	1	0	0	0	10851	1145	40	1	23844	1	OBSCN	1	228560743	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8056	228560743	20689878	263	14646											
TRIM67	440730	genome.wustl.edu	37	chr1	231299574	231299574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagagcccgggaggcGcgggggcgggggcgactggg	5	2	24	10	5	0	1	0	0	0	1	0	3	0	2	1	7	2	2	1	7	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:231299574G>A	ENST00000366653.5	+	1	859	c.859G>A	c.(859-861)Gcg>Acg	p.A287T	TRIM67_ENST00000366652.2_Missense_Mutation_p.A287T|TRIM67_ENST00000449018.3_Missense_Mutation_p.A225T|TRIM67_ENST00000444294.3_Missense_Mutation_p.A287T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	287					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCCGGGAGGCGCGGGGGCGGG	0.756																																																	0													4	5	5					1																	231299574		1621	3723	5344	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.859G>A	1.37:g.231299574G>A	ENSP00000355613:p.Ala287Thr		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.A287T	ENST00000366653.5	37	c.859	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461966	0.04508	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70164	-0.46;-0.36;-0.4;-0.46	4.5	-1.21	0.09524	.	0.598483	0.13810	N	0.361199	T	0.38746	0.1052	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.14578	0.011	T	0.17715	-1.0360	10	0.31617	T	0.26	.	5.9273	0.19120	0.3723:0.2505:0.3772:0.0	.	287	Q6ZTA4	TRI67_HUMAN	T	287;287;225;287	ENSP00000412124:A287T;ENSP00000355612:A287T;ENSP00000400163:A225T;ENSP00000355613:A287T	ENSP00000355612:A287T	A	+	1	0	TRIM67	229366197	0.953000	0.32496	0.001000	0.08648	0.023000	0.10783	1.399000	0.34566	-0.070000	0.12908	-0.424000	0.05967	GCG	TRIM67	-	NULL	ENSG00000119283		0.756	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	-	0	10	0	G	NM_001004342		231299574	1	tier1	-	no_errors	ENST00000366652	ensembl	human	known	74_37	missense	50.00	4	4	SNP	0.001	A	A	231299574	G	A	231299574	3	1	58	1	0	0	0	0	1	0	0	0	16588	1087	38	1	861	1	TRIM67	1	231299574	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2738831	231299574	17951047	264	14647											
DISC1	27185	genome.wustl.edu	37	chr1	231858326	231858326	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatggaagcctcgacaTcctgaaccaaactcctatta	13	8	5	15	1	0	1	0	1	0	0	3	3	2	2	6	1	3	0	6	1	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:231858326T>C	ENST00000317586.4	+	3	1142	c.1089T>C	c.(1087-1089)caT>caC	p.H363H	TSNAX-DISC1_ENST00000602962.1_Intron|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000602281.1_Intron|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366636.4_Intron|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Intron|DISC1_ENST00000535983.1_Intron|DISC1_ENST00000439617.2_Intron|DISC1_ENST00000366637.3_Intron	NM_001012958.1	NP_001012976.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	0	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGCCTCGACATCCTGAACCAA	0.398																																																	0													97	91	93					1																	231858326		2203	4300	6503	SO:0001819	synonymous_variant	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000317586.4:c.1089T>C	1.37:g.231858326T>C			A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	NULL	p.H363	ENST00000317586.4	37	c.1089	CCDS31056.1	1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.598857	0.13939	.	.	ENSG00000162946	ENST00000366632	.	.	.	4.5	3.38	0.38709	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.19575	N	0.999963	P;P	0.36587	0.559;0.559	B;B	0.38056	0.264;0.192	T	0.22695	-1.0209	7	0.87932	D	0	.	6.4109	0.21690	0.0:0.1103:0.0:0.8897	.	429;387	C4P0D2;C4P0D0	.;.	P	238	.	ENSP00000355592:S238P	S	+	1	0	DISC1	229924949	0.000000	0.05858	0.017000	0.16124	0.220000	0.24768	0.419000	0.21247	0.762000	0.33152	0.528000	0.53228	TCC	DISC1	-	NULL	ENSG00000162946		0.398	DISC1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000092355.2	-	0	70	0	T	NM_018662		231858326	1	tier1	-	no_errors	ENST00000317586	ensembl	human	known	74_37	silent	23.77	93	29	SNP	0.045	C	C	231858326	T	C	231858326	2	2	58	1	0	0	0	0	0	0	0	1	4552	1435	50	4		4	DISC1	1	231858326	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	558752	231858326	17392295	265	14648											
PCNXL2	80003	genome.wustl.edu	37	chr1	233134043	233134043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccccgtgctgagcaccGccttttctgggctgttctgc	4	11	11	15	2	2	1	0	1	2	0	2	2	2	1	4	1	3	4	4	1	0	3	rs548311730		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:233134043G>A	ENST00000258229.9	-	32	5979	c.5745C>T	c.(5743-5745)ggC>ggT	p.G1915G	PCNXL2_ENST00000344698.2_Silent_p.G567G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1915						integral component of membrane (GO:0016021)		p.G1915G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTGAGCACCGCCTTTTCTGG	0.602													G|||	1	0.000199681	0	0	5008	,	,		18796	0.001		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)											44	47	46					1																	233134043		2045	4204	6249	SO:0001819	synonymous_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5745C>T	1.37:g.233134043G>A			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.G1915	ENST00000258229.9	37	c.5745	CCDS44335.1	1																																																																																			PCNXL2	-	NULL	ENSG00000135749		0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0	39	0	G	NM_014801		233134043	-1	tier1	-	no_errors	ENST00000258229	ensembl	human	known	74_37	silent	54.84	14	17	SNP	0.000	A	A	233134043	G	A	233134043	2	1	58	1	0	0	0	0	0	0	0	1	11631	1074	38	1		1	PCNXL2	1	233134043	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1275717	233134043	16116578	266	14649											
TARBP1	6894	genome.wustl.edu	37	chr1	234529164	234529164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtgctgaaactgtttgtCgctgatacactgaaggctgc	9	11	13	8	1	0	3	0	3	0	0	1	4	0	3	0	2	4	4	0	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:234529164C>T	ENST00000040877.1	-	28	4503	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1502					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AACTGTTTGTCGCTGATACAC	0.468																																																	0													123	112	115					1																	234529164		2203	4300	6503	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"tRNA methyltransferase 3 homolog (S. cerevisiae)"	605052	"Tar (HIV-1) RNA binding protein 1"			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4504G>A	1.37:g.234529164C>T	ENSP00000040877:p.Asp1502Asn		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.D1502N	ENST00000040877.1	37	c.4504	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041188	0.75732	.	.	ENSG00000059588	ENST00000040877	T	0.39592	1.07	5.44	5.44	0.79542	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53507	-0.8429	10	0.42905	T	0.14	-20.5257	19.4445	0.94841	0.0:1.0:0.0:0.0	.	1502	Q13395	TARB1_HUMAN	N	1502	ENSP00000040877:D1502N	ENSP00000040877:D1502N	D	-	1	0	TARBP1	232595787	1.000000	0.71417	0.390000	0.26220	0.174000	0.22865	7.320000	0.79064	2.828000	0.97474	0.650000	0.86243	GAC	TARBP1	-	pfam_SpoU_MeTrfase	ENSG00000059588		0.468	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	-	0	65	0	C	NM_005646		234529164	-1	tier1	-	no_errors	ENST00000040877	ensembl	human	novel	74_37	missense	34.00	33	17	SNP	1.000	T	T	234529164	C	T	234529164	3	4	58	1	0	0	0	0	1	0	0	0	15602	884	31	1	373	1	TARBP1	1	234529164	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1395121	234529164	14721457	267	14650											
IRF2BP2	359948	genome.wustl.edu	37	chr1	234743089	234743089	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagggacggacgggcactGcacaaaatgggtgtcctcca	11	5	14	11	3	0	0	0	0	0	0	2	3	2	2	2	4	1	2	2	4	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:234743089G>A	ENST00000366609.3	-	2	1588	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.Q504*|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	520	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GACGGGCACTGCACAAAATGG	0.617																																																	0													70	75	73					1																	234743089		2203	4300	6503	SO:0001587	stop_gained	0			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1558C>T	1.37:g.234743089G>A	ENSP00000355568:p.Gln520*		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Nonsense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.Q520*	ENST00000366609.3	37	c.1558	CCDS1602.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.419629	0.97550	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	.	.	.	5.76	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.7659	16.8437	0.85975	0.0:0.1287:0.8713:0.0	.	.	.	.	X	504;520	.	ENSP00000355568:Q520X	Q	-	1	0	IRF2BP2	232809712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	1.426000	0.47256	0.650000	0.86243	CAG	IRF2BP2	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000168264		0.617	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	HGNC	protein_coding	OTTHUMT00000092705.1	-	0	65	0	G	NM_182972		234743089	-1	tier1	-	no_errors	ENST00000366609	ensembl	human	novel	74_37	nonsense	5.26	71	4	SNP	1.000	A	A	234743089	G	A	234743089	4	1	58	1	0	0	0	0	0	1	0	0	7857	1328	46	3	209	3	IRF2BP2	1	234743089	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	213925	234743089	14507532	268	14651											
LYST	1130	genome.wustl.edu	37	chr1	235897834	235897834	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgcactgggagggatGcacttgtgaccacataactt	10	11	12	8	0	0	2	0	2	0	0	0	4	0	4	1	2	3	3	1	2	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:235897834G>T	ENST00000389794.3	-	32	8658	c.8484C>A	c.(8482-8484)tgC>tgA	p.C2828*	LYST_ENST00000389793.2_Nonsense_Mutation_p.C2828*|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2828					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGGAGGGATGCACTTGTGAC	0.393																																																	0													249	217	228					1																	235897834		2203	4300	6503	SO:0001587	stop_gained	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8484C>A	1.37:g.235897834G>T	ENSP00000374444:p.Cys2828*		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C2828*	ENST00000389794.3	37	c.8484	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	51	17.505381	0.99888	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.06	5.06	0.68205	.	0.044849	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1052	0.36694	0.2081:0.0:0.7919:0.0	.	.	.	.	X	2828	.	ENSP00000374443:C2828X	C	-	3	2	LYST	233964457	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	2.364000	0.44187	2.496000	0.84212	0.591000	0.81541	TGC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	66	0	G			235897834	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T	T	235897834	G	T	235897834	4	4	58	1	0	0	0	0	0	1	0	0	9164	1311	46	3	3009	3	LYST	1	235897834	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1154745	235897834	13352787	269	14652											
LYST	1130	genome.wustl.edu	37	chr1	235914600	235914600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttcagagtcatgatttgCggtggtccttataaattcca	9	16	9	7	1	2	2	2	1	0	1	4	2	4	2	2	2	1	1	2	2	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:235914600C>T	ENST00000389794.3	-	28	7864	c.7690G>A	c.(7690-7692)Gca>Aca	p.A2564T	LYST_ENST00000389793.2_Missense_Mutation_p.A2564T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2564					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCATGATTTGCGGTGGTCCTT	0.428																																																	0													131	130	131					1																	235914600		2203	4300	6503	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7690G>A	1.37:g.235914600C>T	ENSP00000374444:p.Ala2564Thr		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2564T	ENST00000389794.3	37	c.7690	CCDS31062.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.748831|4.748831	0.89753|0.89753	.|.	.|.	ENSG00000143669|ENSG00000143669	ENST00000389794;ENST00000389793|ENST00000487530	T;T|.	0.64991|.	-0.13;-0.13|.	5.16|5.16	4.18|4.18	0.49190|0.49190	.|.	0.569810|.	0.19900|.	N|.	0.103532|.	T|T	0.63522|0.63522	0.2518|0.2518	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	P|.	0.34815|.	0.47|.	B|.	0.19666|.	0.026|.	T|T	0.61530|0.61530	-0.7044|-0.7044	10|5	0.24483|.	T|.	0.36|.	.|.	10.08|10.08	0.42384|0.42384	0.1371:0.7888:0.0:0.0741|0.1371:0.7888:0.0:0.0741	.|.	2564|.	Q99698|.	LYST_HUMAN|.	T|H	2564|77	ENSP00000374444:A2564T;ENSP00000374443:A2564T|.	ENSP00000374443:A2564T|.	A|R	-|-	1|2	0|0	LYST|LYST	233981223|233981223	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.932000|0.932000	0.56968|0.56968	4.491000|4.491000	0.60326|0.60326	2.560000|2.560000	0.86352|0.86352	0.561000|0.561000	0.74099|0.74099	GCA|CGC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.428	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	64	0	C			235914600	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	46.43	30	26	SNP	0.993	T	T	235914600	C	T	235914600	3	4	58	1	0	0	0	0	1	0	0	0	9164	768	27	1	3819	1	LYST	1	235914600	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	16766	235914600	13336021	270	14653											
ERO1LB	56605	genome.wustl.edu	37	chr1	236415381	236415381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcttttattccaaccGgaattttactcttaaaaaaa	14	13	4	10	1	1	0	0	0	1	0	2	1	2	1	3	1	3	1	3	1	8	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:236415381G>A	ENST00000354619.5	-	4	518	c.317C>T	c.(316-318)cCg>cTg	p.P106L	ERO1LB_ENST00000327333.8_Missense_Mutation_p.P106L	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	106					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TATTCCAACCGGAATTTTACT	0.318																																																	0													81	84	83					1																	236415381		2203	4300	6503	SO:0001583	missense	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.317C>T	1.37:g.236415381G>A	ENSP00000346635:p.Pro106Leu		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	pfam_Ero1,pirsf_Ero1	p.P106L	ENST00000354619.5	37	c.317	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837515	0.91117	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	D;T	0.97161	-4.27;-0.56	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.99497	1.0952	10	0.87932	D	0	-13.8586	18.7695	0.91885	0.0:0.0:1.0:0.0	.	106;106	B4DF57;Q86YB8	.;ERO1B_HUMAN	L	106	ENSP00000346635:P106L;ENSP00000377574:P106L	ENSP00000377574:P106L	P	-	2	0	ERO1LB	234482004	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	8.147000	0.89628	2.729000	0.93468	0.655000	0.94253	CCG	ERO1LB	-	pfam_Ero1,pirsf_Ero1	ENSG00000086619		0.318	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	-	0	25	0	G	NM_019891		236415381	-1	tier1	-	no_errors	ENST00000354619	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A	A	236415381	G	A	236415381	3	1	58	1	0	0	0	0	1	0	0	0	5256	1116	39	1	1138	1	ERO1LB	1	236415381	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	500781	236415381	12835240	271	14654											
RYR2	6262	genome.wustl.edu	37	chr1	237897051	237897051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcctatgcagatattatgGcaaaggtaaataagtatcct	14	12	9	6	0	0	1	0	0	0	1	1	1	1	1	2	3	1	4	2	3	8	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:237897051G>T	ENST00000366574.2	+	79	11403	c.11086G>T	c.(11086-11088)Gca>Tca	p.A3696S	RYR2_ENST00000360064.6_Missense_Mutation_p.A3694S|RYR2_ENST00000542537.1_Missense_Mutation_p.A3680S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3696					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A3694T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATATTATGGCAAAGGTAAA	0.333																																																	1	Substitution - Missense(1)	lung(1)											106	96	99					1																	237897051		1823	4080	5903	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11086G>T	1.37:g.237897051G>T	ENSP00000355533:p.Ala3696Ser		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A3694S	ENST00000366574.2	37	c.11080	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913923	0.52439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97138	-4.26;-4.24;-4.25	5.79	5.79	0.91817	.	0.099741	0.41097	U	0.000956	D	0.95548	0.8553	L	0.54965	1.715	0.80722	D	1	B;P	0.35174	0.181;0.488	B;B	0.34385	0.042;0.181	D	0.94362	0.7588	10	0.33940	T	0.23	-14.1358	18.8212	0.92097	0.0:0.0:1.0:0.0	.	651;3696	B4DGV4;Q92736	.;RYR2_HUMAN	S	3696;3694;3680;651	ENSP00000355533:A3696S;ENSP00000353174:A3694S;ENSP00000443798:A3680S	ENSP00000353174:A3694S	A	+	1	0	RYR2	235963674	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.392000	0.79840	2.753000	0.94483	0.557000	0.71058	GCA	RYR2	-	NULL	ENSG00000198626		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	27	0	G	NM_001035		237897051	1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	237897051	G	T	237897051	3	4	58	1	0	0	0	0	1	0	0	0	13814	1203	42	3	11400	3	RYR2	1	237897051	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1481670	237897051	11353570	272	14655											
CHRM3	1131	genome.wustl.edu	37	chr1	240072235	240072235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggcccagaccctcagtgCgatcttgcttgccttcatca	7	10	9	15	2	4	1	3	0	1	1	4	2	4	1	3	1	4	1	3	1	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:240072235C>T	ENST00000255380.4	+	5	2263	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	495					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCTCAGTGCGATCTTGCTT	0.493																																																	0													150	138	142					1																	240072235		2203	4300	6503	SO:0001583	missense	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1484C>T	1.37:g.240072235C>T	ENSP00000255380:p.Ala495Val		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.A495V	ENST00000255380.4	37	c.1484	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659170	0.88154	.	.	ENSG00000133019	ENST00000255380	T	0.33654	1.4	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70626	-0.4820	10	0.72032	D	0.01	-18.2966	20.1653	0.98150	0.0:1.0:0.0:0.0	.	495	P20309	ACM3_HUMAN	V	495	ENSP00000255380:A495V	ENSP00000255380:A495V	A	+	2	0	CHRM3	238138858	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GCG	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000133019		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0	51	0	C	NM_000740		240072235	1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	missense	45.00	22	18	SNP	1.000	T	T	240072235	C	T	240072235	3	4	58	1	0	0	0	0	1	0	0	0	3385	768	27	1	1486	1	CHRM3	1	240072235	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2175184	240072235	9178386	273	14656											
FMN2	56776	genome.wustl.edu	37	chr1	240370225	240370225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccctggacacagaggtgGccagtggtcatcaagggctt	8	8	14	11	0	2	1	2	0	0	1	2	2	2	2	2	5	1	1	2	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:240370225G>T	ENST00000319653.9	+	5	2343	c.2113G>T	c.(2113-2115)Gcc>Tcc	p.A705S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	705					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACAGAGGTGGCCAGTGGTCA	0.498																																																	0													71	71	71					1																	240370225		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2113G>T	1.37:g.240370225G>T	ENSP00000318884:p.Ala705Ser		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.A705S	ENST00000319653.9	37	c.2113	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.015955	0.19355	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.26223	1.75	4.91	0.85	0.18980	.	0.660199	0.13879	N	0.356463	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.25433	-1.0132	10	0.27785	T	0.31	.	2.6543	0.05008	0.2796:0.1179:0.4877:0.1148	.	705	Q9NZ56	FMN2_HUMAN	S	142;705	ENSP00000318884:A705S	ENSP00000318884:A705S	A	+	1	0	FMN2	238436848	0.000000	0.05858	0.009000	0.14445	0.028000	0.11728	-0.024000	0.12435	0.073000	0.16731	-0.136000	0.14681	GCC	FMN2	-	NULL	ENSG00000155816		0.498	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	37	0	G	XM_371352		240370225	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.002	T	T	240370225	G	T	240370225	3	4	58	1	0	0	0	0	1	0	0	0	5972	1203	42	3	2131	3	FMN2	1	240370225	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	297990	240370225	8880396	274	14657											
KIF26B	55083	genome.wustl.edu	37	chr1	245849621	245849621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgagcaaggattccggCgtggcgtctagggagtcctt	6	9	14	12	4	1	0	0	0	1	0	4	3	3	2	3	4	1	1	3	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:245849621C>T	ENST00000407071.2	+	12	3776	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G	KIF26B_ENST00000366518.4_Silent_p.G731G	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGATTCCGGCGTGGCGTCTA	0.617																																																	0													65	73	70					1																	245849621		1939	4138	6077	SO:0001819	synonymous_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3336C>T	1.37:g.245849621C>T			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G1112	ENST00000407071.2	37	c.3336	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.617	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0	22	0	C	XM_371354		245849621	1			no_errors	ENST00000407071	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.001	T	T	245849621	C	T	245849621	2	4	58	1	0	0	0	0	0	0	0	1	8322	755	27	1		1	KIF26B	1	245849621	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5479396	245849621	3401000	275	14658											
SCCPDH	51097	genome.wustl.edu	37	chr1	246923522	246923522	+	Frame_Shift_Del	DEL	A	A	-																															ttcaaaacaaggcccaacacAaaaacaggtaatttcttttg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:246923522delA	ENST00000366510.3	+	9	1359	c.983delA	c.(982-984)caafs	p.Q328fs		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	328						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCCCAACACAAAAACAGGTA	0.323																																																	0													55	56	56					1																	246923522		2203	4295	6498	SO:0001589	frameshift_variant	0				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.983delA	1.37:g.246923522delA	ENSP00000355467:p.Gln328fs		Q8TAR0|Q9Y363	Frame_Shift_Del	DEL	pfam_Saccharopine_DH/HSpermid_syn	p.K329fs	ENST00000366510.3	37	c.983	CCDS31084.1	1																																																																																			SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn	ENSG00000143653		0.323	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2		0	47	0	A	NM_016002		246923522	1	tier1		no_errors	ENST00000366510	ensembl	human	known	74_37	frame_shift_del	25.00	54	18	DEL	1.000	-	-	246923522	A	-	246923522	7	5	58	1	0	1	0	1	0	0	0	0	13930	130	5	0	1017	0	SCCPDH	1	246923522	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1073901	246923522	2327099	276	14659											
ZNF496	84838	genome.wustl.edu	37	chr1	247464137	247464137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccggctgcaggtgtatcCgccggtgggagagcaggtgg	5	8	19	9	3	0	1	0	0	0	1	2	2	2	1	3	6	2	4	3	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:247464137C>T	ENST00000294753.4	-	9	1912	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R519Q	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	483					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CAGGTGTATCCGCCGGTGGGA	0.652																																																	0													52	57	55					1																	247464137		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1448G>A	1.37:g.247464137C>T	ENSP00000294753:p.Arg483Gln		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R519Q	ENST00000294753.4	37	c.1556	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100633	0.56183	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.09445	2.98;2.98	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152547	0.30227	N	0.010116	T	0.26048	0.0635	L	0.48935	1.535	0.22710	N	0.998821	P;D	0.89917	0.897;1.0	B;D	0.87578	0.267;0.998	T	0.01472	-1.1346	10	0.66056	D	0.02	-43.5744	14.5539	0.68086	0.0:1.0:0.0:0.0	.	519;483	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	Q	483;519	ENSP00000294753:R483Q;ENSP00000355454:R519Q	ENSP00000294753:R483Q	R	-	2	0	ZNF496	245530760	0.005000	0.15991	0.441000	0.26858	0.134000	0.20937	1.841000	0.39240	2.352000	0.79861	0.655000	0.94253	CGG	ZNF496	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000162714		0.652	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	45	0	C	NM_032752		247464137	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.533	T	T	247464137	C	T	247464137	3	4	58	1	0	0	0	0	1	0	0	0	17993	652	23	1	319	1	ZNF496	1	247464137	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	540615	247464137	1786484	277	14660											
OR2L3	391192	genome.wustl.edu	37	chr1	248224623	248224623	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcccttcattgctattTcatgttcctatggccgggtt	4	19	8	10	1	2	0	2	0	0	0	4	0	4	0	3	2	1	4	3	2	2	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:248224623T>G	ENST00000359959.3	+	1	640	c.640T>G	c.(640-642)Tca>Gca	p.S214A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATTGCTATTTCATGTTCCTA	0.517																																																	0													140	154	150					1																	248224623		2203	4300	6503	SO:0001583	missense	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.640T>G	1.37:g.248224623T>G	ENSP00000353044:p.Ser214Ala		B9EH44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S214A	ENST00000359959.3	37	c.640	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337793	0.05278	.	.	ENSG00000198128	ENST00000359959	T	0.00051	8.81	2.05	-4.11	0.03928	GPCR, rhodopsin-like superfamily (1);	2.121380	0.03067	N	0.156656	T	0.00073	0.0002	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20207	-1.0282	10	0.25751	T	0.34	.	0.7694	0.01021	0.3681:0.2667:0.2143:0.1509	.	214	Q8NG85	OR2L3_HUMAN	A	214	ENSP00000353044:S214A	ENSP00000353044:S214A	S	+	1	0	OR2L3	246291246	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-2.750000	0.00793	-0.453000	0.07076	-0.492000	0.04666	TCA	OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198128		0.517	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	-	0	172	0	T	NM_001004687		248224623	1	tier1	-	no_errors	ENST00000359959	ensembl	human	known	74_37	missense	13.24	190	29	SNP	0.000	G	G	248224623	T	G	248224623	3	3	58	1	0	0	0	0	1	0	0	0	11047	1783	62	4	642	4	OR2L3	1	248224623	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	760486	248224623	1025998	278	14661											
OR2L3	391192	genome.wustl.edu	37	chr1	248224643	248224643	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttcctatggccgggtTctccttgctgtctaccacat	5	15	8	13	1	3	0	1	0	2	0	5	0	4	0	4	2	2	3	4	2	2	5	rs373221683	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:248224643T>C	ENST00000359959.3	+	1	660	c.660T>C	c.(658-660)gtT>gtC	p.V220V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGGCCGGGTTCTCCTTGCTG	0.493													t|||	3	0.000599042	0	0	5008	,	,		21357	0.003		0	False		,,,				2504	0																0													129	134	132					1																	248224643		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"GPCR / Class A : Olfactory receptors"	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.660T>C	1.37:g.248224643T>C			B9EH44	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V220	ENST00000359959.3	37	c.660	CCDS31104.1	1																																																																																			OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198128		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	-	0	166	0	T	NM_001004687		248224643	1	tier1	-	no_errors	ENST00000359959	ensembl	human	known	74_37	silent	17.97	178	39	SNP	0.000	C	C	248224643	T	C	248224643	2	2	58	1	0	0	0	0	0	0	0	1	11047	1770	62	4		4	OR2L3	1	248224643	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	20	248224643	1025978	279	14662											
OR2T33	391195	genome.wustl.edu	37	chr1	248436945	248436945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttggctcaggaggaagtAcatgggcgtgtggagccggt	9	8	18	6	2	1	0	1	0	0	0	1	3	1	3	1	6	2	3	1	6	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:248436945A>G	ENST00000318021.2	-	1	193	c.172T>C	c.(172-174)Tac>Cac	p.Y58H		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGAGGAAGTACATGGGCGTG	0.522																																																	0													84	76	79					1																	248436945		2202	4300	6502	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"GPCR / Class A : Olfactory receptors"	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.172T>C	1.37:g.248436945A>G	ENSP00000324687:p.Tyr58His		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y58H	ENST00000318021.2	37	c.172	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	13.56	2.275005	0.40194	.	.	ENSG00000177212	ENST00000318021	T	0.15487	2.42	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32273	U	0.006338	T	0.36138	0.0956	H	0.97315	3.98	0.37630	D	0.921657	B	0.31859	0.343	B	0.33620	0.167	T	0.55179	-0.8181	10	0.87932	D	0	.	10.997	0.47582	1.0:0.0:0.0:0.0	.	58	Q8NG76	O2T33_HUMAN	H	58	ENSP00000324687:Y58H	ENSP00000324687:Y58H	Y	-	1	0	OR2T33	246503568	1.000000	0.71417	0.991000	0.47740	0.922000	0.55478	5.091000	0.64505	1.178000	0.42870	0.404000	0.27445	TAC	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177212		0.522	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0	107	0	A	NM_001004695		248436945	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	24.11	107	34	SNP	1.000	G	G	248436945	A	G	248436945	3	3	58	1	0	0	0	0	1	0	0	0	11063	391	14	4	793	4	OR2T33	1	248436945	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	212302	248436945	813676	280	14663											
ZNF672	79894	genome.wustl.edu	37	chr1	249142523	249142523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggcaagcggttcacgtgCgtgtccaatctcaacgtgca	8	9	12	12	5	2	0	2	0	1	0	4	0	3	0	1	2	5	3	1	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:249142523C>T	ENST00000306562.3	+	4	1796	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGTTCACGTGCGTGTCCAATC	0.657																																																	0													42	40	40					1																	249142523		2202	4300	6502	SO:0001819	synonymous_variant	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1050C>T	1.37:g.249142523C>T			Q96H65|Q96IM3|Q9H6G5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C350	ENST00000306562.3	37	c.1050	CCDS1638.1	1																																																																																			ZNF672	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.657	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	-	0	83	0	C	NM_024836		249142523	1	tier1	-	no_errors	ENST00000306562	ensembl	human	known	74_37	silent	25.35	53	18	SNP	0.075	T	T	249142523	C	T	249142523	2	4	58	1	0	0	0	0	0	0	0	1	18127	776	27	1		1	ZNF672	1	249142523	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	705578	249142523	108098	281	14664											
KIDINS220	57498	genome.wustl.edu	37	chr2	8890414	8890414	+	Frame_Shift_Del	DEL	G	G	-																															gaccctcatgtagagggagcGgggggtacgccagtcctcca																								rs373415558		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:8890414delG	ENST00000256707.3	-	24	3423	c.3242delC	c.(3241-3243)ccgfs	p.P1081fs	KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.P1081fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.P1039fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.P1081fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1081					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGAGGGAGCGGGGGGTACGC	0.567																																																	0													45	49	48					2																	8890414		1956	4137	6093	SO:0001589	frameshift_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3242delC	2.37:g.8890414delG	ENSP00000256707:p.Pro1081fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Del	DEL	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P1081fs	ENST00000256707.3	37	c.3242	CCDS42650.1	2																																																																																			KIDINS220	-	NULL	ENSG00000134313		0.567	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0	25	0	G	NM_020738		8890414	-1	tier1		no_errors	ENST00000256707	ensembl	human	known	74_37	frame_shift_del	35.29	11	6	DEL	0.969	-	-	8890414	G	-	8890414	7	5	58	1	0	1	0	1	0	0	0	0	8298	1116	39	0	2101	0	KIDINS220	2	8890414	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09		8890414	234308959	282	14665											
NOL10	79954	genome.wustl.edu	37	chr2	10815951	10815951	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacacctttcaaacttcaaGgataattgataggtgtcata	16	12	6	7	0	3	1	3	1	0	0	3	2	3	2	1	2	2	0	1	2	6	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:10815951G>T	ENST00000381685.5	-	4	363	c.258C>A	c.(256-258)tcC>tcA	p.S86S	NOL10_ENST00000345985.3_Silent_p.S86S|NOL10_ENST00000538384.1_Intron|NOL10_ENST00000542668.1_Silent_p.S36S	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	86						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CAAACTTCAAGGATAATTGAT	0.303																																																	0													54	54	54					2																	10815951		2201	4298	6499	SO:0001819	synonymous_variant	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.258C>A	2.37:g.10815951G>T			A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S86	ENST00000381685.5	37	c.258	CCDS1673.2	2																																																																																			NOL10	-	superfamily_WD40_repeat_dom	ENSG00000115761		0.303	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	-	0	25	0	G	NM_024894		10815951	-1	tier1	-	no_errors	ENST00000381685	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.997	T	T	10815951	G	T	10815951	2	4	58	1	0	0	0	0	0	0	0	1	10559	987	35	3		3	NOL10	2	10815951	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1925537	10815951	232383422	283	14666											
GREB1	9687	genome.wustl.edu	37	chr2	11758984	11758984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatggactacggcaaccGggccgagggccgcgtggacg	8	3	16	14	6	0	0	0	0	0	0	0	3	0	2	4	5	2	1	4	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:11758984G>A	ENST00000381486.2	+	22	4283	c.3983G>A	c.(3982-3984)cGg>cAg	p.R1328Q	GREB1_ENST00000396123.1_Missense_Mutation_p.R326Q|GREB1_ENST00000234142.5_Missense_Mutation_p.R1328Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1328						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACGGCAACCGGGCCGAGGGC	0.701																																					Ovarian(39;850 945 2785 23371 33093)												0													11	13	13					2																	11758984		1989	4130	6119	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3983G>A	2.37:g.11758984G>A	ENSP00000370896:p.Arg1328Gln		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1328Q	ENST00000381486.2	37	c.3983	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049936	0.55218	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.24908	3.15;3.15;1.83	4.78	3.9	0.45041	.	0.062078	0.64402	D	0.000004	T	0.14184	0.0343	N	0.25789	0.76	0.44275	D	0.997131	P	0.36378	0.55	B	0.34346	0.18	T	0.07385	-1.0775	10	0.11485	T	0.65	-21.9796	8.1469	0.31117	0.0808:0.0:0.7635:0.1557	.	1328	Q4ZG55	GREB1_HUMAN	Q	1328;1328;326	ENSP00000370896:R1328Q;ENSP00000234142:R1328Q;ENSP00000379429:R326Q	ENSP00000234142:R1328Q	R	+	2	0	GREB1	11676435	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	3.432000	0.52824	1.005000	0.39183	0.551000	0.68910	CGG	GREB1	-	NULL	ENSG00000196208		0.701	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1		0	29	0	G	NM_014668		11758984	1			no_errors	ENST00000234142	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.957	A	A	11758984	G	A	11758984	3	1	58	1	0	0	0	0	1	0	0	0	6787	1116	39	1	4173	1	GREB1	2	11758984	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	943033	11758984	231440389	284	14667											
RAD51AP2	729475	genome.wustl.edu	37	chr2	17698736	17698737	+	Frame_Shift_Ins	INS	-	-	T																															aatgttttccgcttctacagINStttttttatcattctgtaac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:17698736_17698737insT	ENST00000399080.2	-	1	969_970	c.946_947insA	c.(946-948)actfs	p.T316fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATCA	0.332																																																	0										1,3493		0,1,1746						-5.6	0			116	1,7797		0,1,3898	no	frameshift	RAD51AP2	NM_001099218.2		0,2,5644	A1A1,A1R,RR		0.0128,0.0286,0.0177				2,11290				SO:0001589	frameshift_variant	0			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.947dupA	2.37:g.17698743_17698743dupT	ENSP00000382030:p.Thr316fs			Frame_Shift_Ins	INS	NULL	p.T316fs	ENST00000399080.2	37	c.947_946	CCDS42656.1	2																																																																																			RAD51AP2	-	NULL	ENSG00000214842		0.332	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3		0	102	0	-	NM_001099218		17698737	-1	tier1		no_errors	ENST00000399080	ensembl	human	known	74_37	frame_shift_ins	31.73	71	33	INS	0.000:0.003	T	T	17698737	-	T	17698736	7	5	58	1	0	1	1	0	0	0	0	0	13032	1029	36	0	2544	0	RAD51AP2	2	17698736	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	5939752	17698736	225500637	285	14668											
VSNL1	7447	genome.wustl.edu	37	chr2	17836516	17836516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaaaatgaatgaggatgGcctgacgcctgagcagcgag	13	6	15	7	2	0	5	0	5	0	0	0	8	0	6	2	2	2	1	2	2	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:17836516G>A	ENST00000406397.1	+	4	956	c.431G>A	c.(430-432)gGc>gAc	p.G144D	VSNL1_ENST00000295156.4_Missense_Mutation_p.G144D|VSNL1_ENST00000404666.2_Missense_Mutation_p.G144D			P62760	VISL1_HUMAN	visinin-like 1	144					calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATGAGGATGGCCTGACGCCT	0.428																																																	0													130	113	119					2																	17836516		2203	4300	6503	SO:0001583	missense	0				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.431G>A	2.37:g.17836516G>A	ENSP00000384719:p.Gly144Asp		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.G144D	ENST00000406397.1	37	c.431	CCDS1689.1	2	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201344	0.38905	.	.	ENSG00000163032	ENST00000404666;ENST00000295156;ENST00000406397	T;T;T	0.72167	-0.63;-0.63;-0.63	5.58	3.76	0.43208	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.03903	-0.33	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34304	-0.9834	10	0.46703	T	0.11	.	11.2432	0.48980	0.0689:0.1278:0.8033:0.0	.	144	P62760	VISL1_HUMAN	D	144	ENSP00000384014:G144D;ENSP00000295156:G144D;ENSP00000384719:G144D	ENSP00000295156:G144D	G	+	2	0	VSNL1	17699997	1.000000	0.71417	0.918000	0.36340	0.972000	0.66771	9.869000	0.99810	0.707000	0.31934	0.650000	0.86243	GGC	VSNL1	-	prints_Recoverin	ENSG00000163032		0.428	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSNL1	HGNC	protein_coding	OTTHUMT00000323803.1	-	0	17	0	G	NM_003385		17836516	1	tier1	-	no_errors	ENST00000295156	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.999	A	A	17836516	G	A	17836516	3	1	58	1	0	0	0	0	1	0	0	0	17276	1203	42	3	441	3	VSNL1	2	17836516	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	137780	17836516	225362857	286	14669											
VSNL1	7447	genome.wustl.edu	37	chr2	17836616	17836616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagaagctgcaaagagCgacccttccattgtattact	13	11	7	10	1	1	2	1	0	0	2	2	3	2	2	2	0	4	3	2	0	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:17836616C>T	ENST00000406397.1	+	4	1056	c.531C>T	c.(529-531)agC>agT	p.S177S	VSNL1_ENST00000295156.4_Silent_p.S177S|VSNL1_ENST00000404666.2_Silent_p.S177S			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443																																																	2	Substitution - Missense(2)	lung(2)											124	105	111					2																	17836616		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"EF-hand domain containing"	12722	protein-coding gene	gene with protein product	"hippocalcin-like protein 3"	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.531C>T	2.37:g.17836616C>T			D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.S177	ENST00000406397.1	37	c.531	CCDS1689.1	2																																																																																			VSNL1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000163032		0.443	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSNL1	HGNC	protein_coding	OTTHUMT00000323803.1		0	18	0	C	NM_003385		17836616	1			no_errors	ENST00000295156	ensembl	human	known	74_37	silent	10.00	18	2	SNP	1.000	T	T	17836616	C	T	17836616	2	4	58	1	0	0	0	0	0	0	0	1	17276	767	27	1		1	VSNL1	2	17836616	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	100	17836616	225362757	287	14670											
C2orf79	391356	genome.wustl.edu	37	chr2	25013357	25013357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagagcaatacaagtggCgatattctctggttgctcaa	11	10	11	9	2	2	1	1	0	1	1	3	3	2	1	1	3	3	3	1	3	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:25013357C>T	ENST00000328379.5	-	2	350	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	CENPO_ENST00000473706.1_5'Flank|CENPO_ENST00000260662.1_5'Flank|CENPO_ENST00000380834.2_5'Flank|PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	116						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						ATACAAGTGGCGATATTCTCT	0.498																																																	0													146	127	134					2																	25013357		2203	4300	6503	SO:0001583	missense	0				CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 79"	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.346G>A	2.37:g.25013357C>T	ENSP00000330389:p.Ala116Thr			Missense_Mutation	SNP	pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom	p.A116T	ENST00000328379.5	37	c.346	CCDS33156.1	2	.	.	.	.	.	.	.	.	.	.	C	8.967	0.971961	0.18736	.	.	ENSG00000184924	ENST00000328379	T	0.08896	3.04	5.08	0.132	0.14762	Peptidyl-tRNA hydrolase II domain (2);	0.301818	0.36703	N	0.002445	T	0.09379	0.0231	L	0.49778	1.585	0.25465	N	0.987882	P	0.39847	0.691	B	0.42188	0.379	T	0.12502	-1.0545	10	0.59425	D	0.04	-3.8105	8.4625	0.32936	0.0:0.4824:0.3775:0.1402	.	116	Q6GMV3	PTRD1_HUMAN	T	116	ENSP00000330389:A116T	ENSP00000330389:A116T	A	-	1	0	PTRHD1	24866861	0.676000	0.27567	0.046000	0.18839	0.119000	0.20118	0.919000	0.28692	-0.080000	0.12685	-0.820000	0.03113	GCC	PTRHD1	-	pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom	ENSG00000184924		0.498	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRHD1	HGNC	protein_coding	OTTHUMT00000324626.3	-	0	110	0	C	NM_001013663		25013357	-1	tier1	-	no_errors	ENST00000328379	ensembl	human	known	74_37	missense	40.62	76	52	SNP	0.236	T	T	25013357	C	T	25013357	3	4	58	1	0	0	0	0	1	0	0	0	2203	768	27	1	80	1	C2orf79	2	25013357	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	7176741	25013357	218186016	288	14671											
DNAJC27	51277	genome.wustl.edu	37	chr2	25180754	25180754	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttgcttcatttctgccagCcacgcatcaagggcgtcaaa	9	11	8	13	2	5	0	3	0	2	0	5	0	5	0	2	1	3	2	2	1	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:25180754C>T	ENST00000264711.2	-	4	519	c.330G>A	c.(328-330)tgG>tgA	p.W110*	DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Nonsense_Mutation_p.W39*	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	110					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTTCTGCCAGCCACGCATCAA	0.428																																																	0													117	107	110					2																	25180754		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"Heat shock proteins / DNAJ (HSP40)"	30290	protein-coding gene	gene with protein product		613527	"rab and DnaJ domain containing"	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.330G>A	2.37:g.25180754C>T	ENSP00000264711:p.Trp110*		Q5JV88|Q86Y24	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom	p.W110*	ENST00000264711.2	37	c.330	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563491	0.86335	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	.	.	.	5.27	5.27	0.74061	.	0.100173	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.749	17.6166	0.88069	0.0:1.0:0.0:0.0	.	.	.	.	X	110;39	.	ENSP00000264711:W110X	W	-	3	0	DNAJC27	25034258	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.550000	0.82173	2.750000	0.94351	0.563000	0.77884	TGG	DNAJC27	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000115137		0.428	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	-	0	34	0	C	NM_016544		25180754	-1	tier1	-	no_errors	ENST00000264711	ensembl	human	known	74_37	nonsense	40.62	19	13	SNP	1.000	T	T	25180754	C	T	25180754	4	4	58	1	0	0	0	0	0	1	0	0	4659	740	26	3	507	3	DNAJC27	2	25180754	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	167397	25180754	218018619	289	14672											
DNMT3A	1788	genome.wustl.edu	37	chr2	25505431	25505431	+	Frame_Shift_Del	DEL	C	C	-																															gctggggccccgcccttctgCcccccagcagggctcccctc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:25505431delC	ENST00000264709.3	-	4	664	c.327delG	c.(325-327)gggfs	p.G109fs	DNMT3A_ENST00000406659.3_Frame_Shift_Del_p.G109fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.G109fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	109					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.Q110fs*14(2)|p.Q110fs*52(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCCTTCTGCCCCCCAGCAG	0.657			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)											30	36	34					2																	25505431		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.327delG	2.37:g.25505431delC	ENSP00000264709:p.Gly109fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.Q110fs	ENST00000264709.3	37	c.327	CCDS33157.1	2																																																																																			DNMT3A	-	NULL	ENSG00000119772		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1		0	49	0	C	NM_022552		25505431	-1	tier1		no_errors	ENST00000264709	ensembl	human	known	74_37	frame_shift_del	28.95	27	11	DEL	0.978	-	-	25505431	C	-	25505431	7	5	58	1	0	1	0	1	0	0	0	0	4690	726	26	0	2624	0	DNMT3A	2	25505431	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	324677	25505431	217693942	290	14673											
OTOF	9381	genome.wustl.edu	37	chr2	26741944	26741944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggctctcctctaccacCttctgcagcaccatgcggaa	9	9	7	16	1	3	0	0	0	3	0	4	1	3	1	4	2	4	3	4	2	2	2	rs545159141		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:26741944C>T	ENST00000272371.2	-	4	387	c.261G>A	c.(259-261)aaG>aaA	p.K87K	OTOF_ENST00000403946.3_Silent_p.K87K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	87					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCTACCACCTTCTGCAGCA	0.567																																					GBM(102;732 1451 20652 24062 31372)												0													111	80	90					2																	26741944		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.261G>A	2.37:g.26741944C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.K87	ENST00000272371.2	37	c.261	CCDS1725.1	2																																																																																			OTOF	-	superfamily_C2_dom,smart_C2_dom	ENSG00000115155		0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	34	0	C			26741944	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	T	T	26741944	C	T	26741944	2	4	58	1	0	0	0	0	0	0	0	1	11342	680	24	3		3	OTOF	2	26741944	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1236513	26741944	216457429	291	14674											
CAD	790	genome.wustl.edu	37	chr2	27457496	27457496	+	Frame_Shift_Del	DEL	G	G	-																															ttggccacgcgggtcatcatGggggaagaagtggaacctgt																								rs148230583		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27457496delG	ENST00000403525.1	+	22	3684	c.3540delG	c.(3538-3540)atgfs	p.M1180fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.M1243fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTCATCATGGGGGAAGAAG	0.512																																																	0													113	107	109					2																	27457496		2203	4300	6503	SO:0001589	frameshift_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3540delG	2.37:g.27457496delG	ENSP00000384510:p.Met1180fs		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.E1245fs	ENST00000403525.1	37	c.3729		2																																																																																			CAD	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.512	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0	78	0	G			27457496	1			no_errors	ENST00000264705	ensembl	human	known	74_37	frame_shift_del	7.45	87	7	DEL	1.000	0	-	27457496	G	-	27457496	7	5	58	1	0	1	0	1	0	0	0	0	2572	1348	47	0	3819	0	CAD	2	27457496	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	715552	27457496	215741877	292	14675											
GTF3C2	2976	genome.wustl.edu	37	chr2	27551017	27551017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatggtctggaccttcagGactgtcctgatacggtatca	10	11	11	9	1	3	2	2	1	1	1	4	4	4	4	2	4	1	1	2	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27551017G>T	ENST00000359541.2	-	17	2725	c.2296C>A	c.(2296-2298)Cct>Act	p.P766T	GTF3C2_ENST00000264720.3_Missense_Mutation_p.P766T|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	766					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCTTCAGGACTGTCCTGA	0.433																																																	0													88	84	86					2																	27551017		2203	4300	6503	SO:0001583	missense	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2296C>A	2.37:g.27551017G>T	ENSP00000352536:p.Pro766Thr		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P766T	ENST00000359541.2	37	c.2296	CCDS1749.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.63|10.63	1.404938|1.404938	0.25378|0.25378	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	T;T|.	0.72051|.	-0.62;-0.62|.	5.15|5.15	1.88|1.88	0.25563|0.25563	WD40 repeat-like-containing domain (1);|.	0.709055|.	0.14313|.	N|.	0.327598|.	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.19112|0.19112	0.55|0.55	0.24927|0.24927	N|N	0.991945|0.991945	B|.	0.26318|.	0.146|.	B|.	0.22152|.	0.038|.	T|T	0.20605|0.20605	-1.0270|-1.0270	10|6	0.10902|0.45353	T|T	0.67|0.12	-4.9876|-4.9876	7.6305|7.6305	0.28236|0.28236	0.3171:0.0:0.6829:0.0|0.3171:0.0:0.6829:0.0	.|.	766|.	Q8WUA4|.	TF3C2_HUMAN|.	T|Y	766|59	ENSP00000352536:P766T;ENSP00000264720:P766T|.	ENSP00000264720:P766T|ENSP00000409043:S59Y	P|S	-|-	1|2	0|0	GTF3C2|GTF3C2	27404521|27404521	0.906000|0.906000	0.30813|0.30813	0.930000|0.930000	0.37139|0.37139	0.978000|0.978000	0.69477|0.69477	0.861000|0.861000	0.27885|0.27885	0.571000|0.571000	0.29365|0.29365	-0.145000|-0.145000	0.13849|0.13849	CCT|TCC	GTF3C2	-	superfamily_WD40_repeat_dom	ENSG00000115207		0.433	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0	44	0	G			27551017	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.313	T	T	27551017	G	T	27551017	3	4	58	1	0	0	0	0	1	0	0	0	6900	1174	41	3	451	3	GTF3C2	2	27551017	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	93521	27551017	215648356	293	14676											
IFT172	26160	genome.wustl.edu	37	chr2	27682634	27682634	+	Frame_Shift_Del	DEL	C	C	-																															cttctgctgcaccaggtggtCcccccatgcctcctctagtt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27682634delC	ENST00000260570.3	-	24	2687	c.2584delG	c.(2584-2586)gacfs	p.D862fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	862					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCAGGTGGTCCCCCCATGCC	0.527																																																	0													191	181	184					2																	27682634		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2584delG	2.37:g.27682634delC	ENSP00000260570:p.Asp862fs		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.D862fs	ENST00000260570.3	37	c.2584	CCDS1755.1	2																																																																																			IFT172	-	NULL	ENSG00000138002		0.527	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2		0	84	0	C	NM_015662		27682634	-1	tier1		no_errors	ENST00000260570	ensembl	human	known	74_37	frame_shift_del	28.12	69	27	DEL	1.000	-	-	27682634	C	-	27682634	7	5	58	1	0	1	0	1	0	0	0	0	7584	855	30	0	2765	0	IFT172	2	27682634	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	131617	27682634	215516739	294	14677											
IFT172	26160	genome.wustl.edu	37	chr2	27695198	27695198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacggctctcatggctgacGgtgccaatgttgtagccacc	8	9	11	13	2	1	1	1	1	1	0	2	1	1	1	3	3	2	4	3	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27695198G>A	ENST00000260570.3	-	15	1546	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	IFT172_ENST00000416524.2_Silent_p.T460T|IFT172_ENST00000359466.6_Silent_p.T481T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	481					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CATGGCTGACGGTGCCAATGT	0.468																																																	0													115	109	111					2																	27695198		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1443C>T	2.37:g.27695198G>A			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.T481	ENST00000260570.3	37	c.1443	CCDS1755.1	2																																																																																			IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.468	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	-	0	35	0	G	NM_015662		27695198	-1	tier1	-	no_errors	ENST00000260570	ensembl	human	known	74_37	silent	39.47	23	15	SNP	1.000	A	A	27695198	G	A	27695198	2	1	58	1	0	0	0	0	0	0	0	1	7584	1103	39	1		1	IFT172	2	27695198	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	12564	27695198	215504175	295	14678											
FOSL2	2355	genome.wustl.edu	37	chr2	28634811	28634813	+	In_Frame_Del	DEL	GGA	GGA	-																															tggcaggagacagaggagctGgaggaggagaagtcaggcct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:28634811_28634813delGGA	ENST00000264716.4	+	4	1340_1342	c.477_479delGGA	c.(475-480)ctggag>ctg	p.E162del	FOSL2_ENST00000379619.1_In_Frame_Del_p.E154del|FOSL2_ENST00000545753.1_In_Frame_Del_p.E123del	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	162	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGAGGAGCTGGAGGAGGAGAAG	0.542																																																	0																																										SO:0001651	inframe_deletion	0				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"basic leucine zipper proteins"	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.477_479delGGA	2.37:g.28634817_28634819delGGA	ENSP00000264716:p.Glu162del		B2RD58|B3KP27|B4DYV4|Q6FG46	In_Frame_Del	DEL	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.E162in_frame_del	ENST00000264716.4	37	c.477_479	CCDS1766.1	2																																																																																			FOSL2	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	ENSG00000075426		0.542	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL2	HGNC	protein_coding	OTTHUMT00000215116.2		0	33	0	GGA	NM_005253		28634813	1	tier1		no_errors	ENST00000264716	ensembl	human	known	74_37	in_frame_del	41.03	23	16	DEL	1.000:1.000:1.000	-	-	28634813	GGA	-	28634811	7	5	58	1	0	1	0	1	0	0	0	0	6010	1335	47	0	491	0	FOSL2	2	28634811	In_Frame_Del	DEL	GGA	TCGA-L5-A4OI-01A-11D-A27G-09	939613	28634811	214564562	296	14679											
PLB1	151056	genome.wustl.edu	37	chr2	28788159	28788159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctctcaggcaggcaatgggGccgggtccacacctgggaac	8	5	14	14	1	1	0	1	0	1	0	3	1	2	1	4	6	1	2	4	6	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:28788159G>A	ENST00000327757.5	+	19	1263	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	PLB1_ENST00000422425.2_Missense_Mutation_p.A418T|PLB1_ENST00000329020.6_Missense_Mutation_p.A95T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	407	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGCAATGGGGCCGGGTCCAC	0.587																																																	0													67	60	62					2																	28788159		2203	4300	6503	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1219G>A	2.37:g.28788159G>A	ENSP00000330442:p.Ala407Thr		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL	p.A418T	ENST00000327757.5	37	c.1252	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943549	0.73672	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.39	5.39	0.77823	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.149324	0.48767	D	0.000178	T	0.67924	0.2945	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.999	D;D;D	0.81914	0.995;0.917;0.977	T	0.70612	-0.4824	10	0.42905	T	0.14	-24.4527	14.657	0.68841	0.0:0.0:1.0:0.0	.	418;95;407	Q6P1J6-3;Q6P1J6-2;Q6P1J6	.;.;PLB1_HUMAN	T	407;418;117;95	ENSP00000330442:A407T;ENSP00000416440:A418T;ENSP00000392493:A117T;ENSP00000330729:A95T	ENSP00000330442:A407T	A	+	1	0	PLB1	28641663	1.000000	0.71417	0.902000	0.35471	0.427000	0.31564	4.195000	0.58400	2.530000	0.85305	0.561000	0.74099	GCC	PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.587	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	-	0	71	0	G			28788159	1	tier1	-	no_errors	ENST00000422425	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.920	A	A	28788159	G	A	28788159	3	1	58	1	0	0	0	0	1	0	0	0	12063	1203	42	3	1326	3	PLB1	2	28788159	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	153348	28788159	214411214	297	14680											
TRMT61B	55006	genome.wustl.edu	37	chr2	29087951	29087951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaacagtatcacctgggTtgatatccatcattgagaga	14	10	8	9	0	2	3	2	2	0	1	3	4	3	3	3	1	1	2	3	1	4	4	rs553131828		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:29087951T>C	ENST00000306108.5	-	2	757	c.734A>G	c.(733-735)aAc>aGc	p.N245S		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	245					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ATCACCTGGGTTGATATCCAT	0.398													T|||	1	0.000199681	0	0	5008	,	,		18541	0		0	False		,,,				2504	0.001																0													70	62	65					2																	29087951		2203	4300	6503	SO:0001583	missense	0			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.734A>G	2.37:g.29087951T>C	ENSP00000302801:p.Asn245Ser		Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	p.N245S	ENST00000306108.5	37	c.734	CCDS1768.1	2	.	.	.	.	.	.	.	.	.	.	T	0.102	-1.150464	0.01700	.	.	ENSG00000171103	ENST00000306108	T	0.21932	1.98	5.07	-1.46	0.08800	.	0.853366	0.10256	N	0.696611	T	0.07413	0.0187	N	0.03050	-0.425	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40664	-0.9551	10	0.19590	T	0.45	-15.6842	7.3699	0.26796	0.0:0.2818:0.1169:0.6012	.	245;245	F8WDR2;Q9BVS5	.;TR61B_HUMAN	S	245	ENSP00000302801:N245S	ENSP00000302801:N245S	N	-	2	0	TRMT61B	28941455	0.836000	0.29430	0.035000	0.18076	0.145000	0.21501	-0.080000	0.11339	-0.534000	0.06315	-0.859000	0.03014	AAC	TRMT61B	-	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	ENSG00000171103		0.398	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61B	HGNC	protein_coding	OTTHUMT00000250224.1	-	0	36	0	T	NM_017910		29087951	-1	tier1	-	no_errors	ENST00000306108	ensembl	human	known	74_37	missense	43.14	29	22	SNP	0.305	C	C	29087951	T	C	29087951	3	2	58	1	0	0	0	0	1	0	0	0	16618	1725	60	4	723	4	TRMT61B	2	29087951	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	299792	29087951	214111422	298	14681											
C2orf71	388939	genome.wustl.edu	37	chr2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-																															gagaggcctttctgcccacaGgggggcttctctctcggctc																								rs113376827		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:29294162delG	ENST00000331664.5	-	1	2965	c.2966delC	c.(2965-2967)cctfs	p.P989fs		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	989					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCTGCCCACAGGGGGGCTTCT	0.637																																																	0													38	41	40					2																	29294162		1904	4108	6012	SO:0001589	frameshift_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2966delC	2.37:g.29294162delG	ENSP00000332809:p.Pro989fs			Frame_Shift_Del	DEL	NULL	p.P989fs	ENST00000331664.5	37	c.2966	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.637	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3		0	84	0	G	NM_001029883		29294162	-1	tier1		no_errors	ENST00000331664	ensembl	human	known	74_37	frame_shift_del	29.49	55	23	DEL	0.000	-	-	29294162	G	-	29294162	7	5	58	1	0	1	0	1	0	0	0	0	2198	1000	35	0	908	0	C2orf71	2	29294162	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	206211	29294162	213905211	299	14682											
BIRC6	57448	genome.wustl.edu	37	chr2	32626374	32626374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaatatcttgctttgggtCggggagctgccctcattttc	6	14	11	10	1	2	1	1	0	1	1	4	2	2	2	1	3	3	2	1	3	2	5	rs545030293		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:32626374C>T	ENST00000421745.2	+	7	1312	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	393					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCTTTGGGTCGGGGAGCTGC	0.443													C|||	1	0.000199681	0	0	5008	,	,		19147	0		0	False		,,,				2504	0.001				Pancreas(94;175 1509 16028 18060 45422)												0													202	200	201					2																	32626374		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1178C>T	2.37:g.32626374C>T	ENSP00000393596:p.Ser393Leu		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S393L	ENST00000421745.2	37	c.1178	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643708	0.67244	.	.	ENSG00000115760	ENST00000421745	T	0.74106	-0.81	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);	0.168506	0.42172	D	0.000755	T	0.61640	0.2363	N	0.24115	0.695	0.38644	D	0.951688	B	0.20671	0.047	B	0.12156	0.007	T	0.63084	-0.6716	10	0.66056	D	0.02	.	12.5522	0.56233	0.0:0.9237:0.0:0.0763	.	393	Q9NR09	BIRC6_HUMAN	L	393	ENSP00000393596:S393L	ENSP00000393596:S393L	S	+	2	0	BIRC6	32479878	1.000000	0.71417	0.960000	0.40013	0.997000	0.91878	5.889000	0.69766	2.550000	0.86006	0.491000	0.48974	TCG	BIRC6	-	superfamily_WD40_repeat_dom	ENSG00000115760		0.443	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	109	0	C	NM_016252		32626374	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	43.48	52	40	SNP	0.994	T	T	32626374	C	T	32626374	3	4	58	1	0	0	0	0	1	0	0	0	1440	893	31	1	1204	1	BIRC6	2	32626374	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3332212	32626374	210572999	300	14683											
BIRC6	57448	genome.wustl.edu	37	chr2	32740485	32740485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaggacaaactcaggcGccatcatgtcccacaacaat	13	7	6	15	1	2	0	2	0	0	0	4	1	4	1	3	2	2	0	3	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:32740485G>A	ENST00000421745.2	+	55	11131	c.10997G>A	c.(10996-10998)cGc>cAc	p.R3666H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3666					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAACTCAGGCGCCATCATGTC	0.433																																					Pancreas(94;175 1509 16028 18060 45422)												0													68	65	66					2																	32740485		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10997G>A	2.37:g.32740485G>A	ENSP00000393596:p.Arg3666His		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.R3666H	ENST00000421745.2	37	c.10997	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294280	0.40594	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.65	5.65	0.86999	.	0.291169	0.33040	N	0.005345	D	0.83700	0.5311	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.82514	-0.0419	10	0.45353	T	0.12	.	19.7253	0.96161	0.0:0.0:1.0:0.0	.	3666	Q9NR09	BIRC6_HUMAN	H	3666	ENSP00000393596:R3666H	ENSP00000393596:R3666H	R	+	2	0	BIRC6	32593989	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.421000	0.80204	2.673000	0.90976	0.585000	0.79938	CGC	BIRC6	-	NULL	ENSG00000115760		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0	79	0	G	NM_016252		32740485	1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	37.65	52	32	SNP	1.000	A	A	32740485	G	A	32740485	3	1	58	1	0	0	0	0	1	0	0	0	1440	1087	38	1	11215	1	BIRC6	2	32740485	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	114111	32740485	210458888	301	14684											
FAM98A	25940	genome.wustl.edu	37	chr2	33810498	33810498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccacctctgtcaggcaccCtgcccatcaacacctacaga	11	7	5	18	0	3	1	2	0	1	1	3	1	3	1	5	1	4	1	5	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:33810498C>A	ENST00000238823.8	-	8	1042	c.902G>T	c.(901-903)aGg>aTg	p.R301M	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.R106M			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	302							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GTCAGGCACCCTGCCCATCAA	0.438																																																	0													35	35	35					2																	33810498		2203	4300	6503	SO:0001583	missense	0				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.902G>T	2.37:g.33810498C>A	ENSP00000238823:p.Arg301Met		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.R301M	ENST00000238823.8	37	c.902	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979519	0.53827	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;T	0.50548	0.74;0.74	5.4	4.52	0.55395	.	0.239347	0.42682	D	0.000676	T	0.66665	0.2812	M	0.71296	2.17	0.58432	D	0.999999	D;D;D;D	0.89917	0.995;1.0;0.997;0.999	D;D;P;D	0.81914	0.993;0.995;0.873;0.954	T	0.69617	-0.5097	10	0.56958	D	0.05	-9.7997	14.0808	0.64919	0.0:0.9274:0.0:0.0726	.	302;132;301;139	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	M	301;302;106	ENSP00000238823:R301M;ENSP00000408716:R106M	ENSP00000238823:R301M	R	-	2	0	FAM98A	33664002	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.617000	0.67716	1.283000	0.44513	0.313000	0.20887	AGG	FAM98A	-	pfam_Uncharacterised_FAM98	ENSG00000119812		0.438	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	-	0	25	0	C	NM_015475		33810498	-1	tier1	-	no_errors	ENST00000238823	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A	A	33810498	C	A	33810498	3	1	58	1	0	0	0	0	1	0	0	0	5678	681	24	3	658	3	FAM98A	2	33810498	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1070013	33810498	209388875	302	14685											
DHX57	90957	genome.wustl.edu	37	chr2	39085933	39085933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctactataacaggtgcaGgaccgtcatcctcatctgac	10	11	7	13	1	4	1	2	1	2	0	6	2	5	2	2	2	3	1	2	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:39085933G>T	ENST00000295373.6	-	6	1583	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	486							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AACAGGTGCAGGACCGTCATC	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)												0													113	107	109					2																	39085933		2203	4300	6503	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1457C>A	2.37:g.39085933G>T	ENSP00000295373:p.Pro486His		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P486H	ENST00000295373.6	37	c.1457	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290124	0.59976	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.10099	2.91	5.7	4.63	0.57726	.	0.259072	0.27513	N	0.019027	T	0.15392	0.0371	N	0.19112	0.55	0.27590	N	0.9493	D;D	0.76494	0.999;0.958	D;P	0.63192	0.912;0.63	T	0.02491	-1.1151	10	0.56958	D	0.05	.	10.2817	0.43543	0.2014:0.0:0.7986:0.0	.	486;486	Q6P158-2;Q6P158	.;DHX57_HUMAN	H	486;384	ENSP00000295373:P486H	ENSP00000295373:P486H	P	-	2	0	DHX57	38939437	0.995000	0.38212	1.000000	0.80357	0.932000	0.56968	1.541000	0.36126	2.683000	0.91414	0.655000	0.94253	CCT	DHX57	-	NULL	ENSG00000163214		0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	-	0	34	0	G	NM_145646		39085933	-1	tier1	-	no_errors	ENST00000295373	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.838	T	T	39085933	G	T	39085933	3	4	58	1	0	0	0	0	1	0	0	0	4527	1000	35	3	2779	3	DHX57	2	39085933	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5275435	39085933	204113440	303	14686											
THADA	63892	genome.wustl.edu	37	chr2	43801837	43801837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaaacaaccaaggcacGtgtactttcctttaatatgc	13	11	5	12	1	0	0	0	0	0	0	1	0	1	0	3	1	5	2	3	1	7	6	rs574838357		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:43801837G>A	ENST00000405006.4	-	11	1718	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	THADA_ENST00000402360.2_Missense_Mutation_p.T456M|THADA_ENST00000415080.2_Missense_Mutation_p.T166M|THADA_ENST00000405975.2_Missense_Mutation_p.T456M|THADA_ENST00000403856.1_Missense_Mutation_p.T456M|THADA_ENST00000404790.1_Missense_Mutation_p.T456M|THADA_ENST00000330266.7_Missense_Mutation_p.T166M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	456								p.T456M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCAAGGCACGTGTACTTTCC	0.418													G|||	1	0.000199681	0	0	5008	,	,		21758	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											132	127	129					2																	43801837		1909	4108	6017	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1367C>T	2.37:g.43801837G>A	ENSP00000385995:p.Thr456Met		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.T456M	ENST00000405006.4	37	c.1367	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407655	0.11754	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.65549	1.45;1.45;1.45;1.45;-0.16;-0.16;1.45	5.84	-2.61	0.06171	Armadillo-type fold (1);	0.837250	0.11048	N	0.605413	T	0.48624	0.1510	L	0.40543	1.245	0.09310	N	1	B;B;P;P;B	0.37594	0.174;0.036;0.601;0.599;0.007	B;B;B;B;B	0.32289	0.03;0.004;0.143;0.068;0.001	T	0.21143	-1.0254	10	0.41790	T	0.15	-9.3942	14.2351	0.65922	0.2598:0.0:0.7402:0.0	.	456;456;456;166;456	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	M	166;456;456;166;456;456;456;456	ENSP00000331105:T166M;ENSP00000386088:T456M;ENSP00000416048:T166M;ENSP00000385995:T456M;ENSP00000385441:T456M;ENSP00000384266:T456M;ENSP00000385469:T456M	ENSP00000331105:T166M	T	-	2	0	THADA	43655341	0.005000	0.15991	0.003000	0.11579	0.473000	0.32948	0.194000	0.17135	-0.958000	0.03622	-1.149000	0.01842	ACG	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	-	0	57	0	G	NM_022065		43801837	-1	tier1	-	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	52.50	19	21	SNP	0.068	A	A	43801837	G	A	43801837	3	1	58	1	0	0	0	0	1	0	0	0	15887	1145	40	1	4606	1	THADA	2	43801837	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4715904	43801837	199397536	304	14687											
THADA	63892	genome.wustl.edu	37	chr2	43814114	43814114	+	Frame_Shift_Del	DEL	A	A	-																															cggtgcatagcctcaggtagAaaaaaatcaggcaggctatt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:43814114delA	ENST00000405006.4	-	5	681	c.330delT	c.(328-330)tttfs	p.F110fs	THADA_ENST00000402360.2_Frame_Shift_Del_p.F110fs|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Frame_Shift_Del_p.F110fs|THADA_ENST00000403856.1_Frame_Shift_Del_p.F110fs|THADA_ENST00000404790.1_Frame_Shift_Del_p.F110fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	110										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTCAGGTAGAAAAAAATCAG	0.358																																																	0													49	48	48					2																	43814114		1817	4064	5881	SO:0001589	frameshift_variant	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.330delT	2.37:g.43814114delA	ENSP00000385995:p.Phe110fs		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Frame_Shift_Del	DEL	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.L111fs	ENST00000405006.4	37	c.330	CCDS46268.1	2																																																																																			THADA	-	NULL	ENSG00000115970		0.358	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3		0	28	0	A	NM_022065		43814114	-1	tier1		no_errors	ENST00000405006	ensembl	human	known	74_37	frame_shift_del	28.57	10	4	DEL	0.055	-	-	43814114	A	-	43814114	7	5	58	1	0	1	0	1	0	0	0	0	15887	243	9	0	5667	0	THADA	2	43814114	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	12277	43814114	199385259	305	14688											
SIX3	6496	genome.wustl.edu	37	chr2	45169257	45169257	+	Frame_Shift_Del	DEL	C	C	-																															tcagtccatggtattccgctCccccctagacctctattcct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:45169257delC	ENST00000260653.3	+	1	356	c.14delC	c.(13-15)tccfs	p.S5fs	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA|RP11-89K21.1_ENST00000437916.2_lincRNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	5					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTATTCCGCTCCCCCCTAGAC	0.587																																																	0													110	105	106					2																	45169257		1816	3801	5617	SO:0001589	frameshift_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.14delC	2.37:g.45169257delC	ENSP00000260653:p.Ser5fs		D6W5A5|Q53T42	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L7fs	ENST00000260653.3	37	c.14	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.587	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1		0	65	0	C	NM_005413		45169257	1	tier1		no_errors	ENST00000260653	ensembl	human	known	74_37	frame_shift_del	43.48	26	20	DEL	1.000	-	-	45169257	C	-	45169257	7	5	58	1	0	1	0	1	0	0	0	0	14393	855	30	0	16	0	SIX3	2	45169257	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1355143	45169257	198030116	306	14689											
SOCS5	9655	genome.wustl.edu	37	chr2	46986990	46986990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaactttagtttcgacGcccatgacccgtgtgtattt	9	14	7	11	3	1	1	1	1	0	0	2	2	1	1	2	0	1	2	2	0	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:46986990G>A	ENST00000306503.5	+	2	1493	c.1321G>A	c.(1321-1323)Gcc>Acc	p.A441T	SOCS5_ENST00000394861.2_Missense_Mutation_p.A441T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	441	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAGTTTCGACGCCCATGACCC	0.468																																																	0													129	124	126					2																	46986990		2203	4300	6503	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1321G>A	2.37:g.46986990G>A	ENSP00000305133:p.Ala441Thr		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.A441T	ENST00000306503.5	37	c.1321	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132605	0.56828	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.33438	1.41;1.41	5.43	4.55	0.56014	SH2 motif (3);	0.050233	0.85682	N	0.000000	T	0.27349	0.0671	N	0.05012	-0.13	0.80722	D	1	D	0.60160	0.987	P	0.54544	0.755	T	0.31194	-0.9952	10	0.62326	D	0.03	-17.4695	14.1532	0.65401	0.0725:0.0:0.9275:0.0	.	441	O75159	SOCS5_HUMAN	T	441	ENSP00000305133:A441T;ENSP00000378330:A441T	ENSP00000305133:A441T	A	+	1	0	SOCS5	46840494	1.000000	0.71417	0.937000	0.37676	0.309000	0.27889	9.657000	0.98554	1.526000	0.49068	0.655000	0.94253	GCC	SOCS5	-	smart_SH2,pfscan_SH2	ENSG00000171150		0.468	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	-	0	58	0	G			46986990	1	tier1	-	no_errors	ENST00000306503	ensembl	human	known	74_37	missense	37.93	36	22	SNP	1.000	A	A	46986990	G	A	46986990	3	1	58	1	0	0	0	0	1	0	0	0	14962	1087	38	1	1323	1	SOCS5	2	46986990	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1817733	46986990	196212383	307	14690											
MSH6	2956	genome.wustl.edu	37	chr2	48025912	48025912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acattggtggctctgatgtgGaatttaagccagacactaag	12	11	11	7	0	1	2	0	1	1	1	1	3	1	3	1	3	1	1	1	3	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:48025912G>A	ENST00000234420.5	+	4	942	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	MSH6_ENST00000540021.1_Missense_Mutation_p.E134K|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	264					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGATGTGGAATTTAAGCC	0.468			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											160	163	162					2																	48025912		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.790G>A	2.37:g.48025912G>A	ENSP00000234420:p.Glu264Lys		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.E264K	ENST00000234420.5	37	c.790	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.150957	0.94645	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021	D;D	0.86030	-1.94;-2.06	4.48	4.48	0.54585	.	0.053373	0.64402	D	0.000001	D	0.90837	0.7122	M	0.64997	1.995	0.80722	D	1	D;P;D	0.76494	0.999;0.953;0.993	D;P;P	0.80764	0.994;0.551;0.84	D	0.90653	0.4584	10	0.44086	T	0.13	-18.7341	17.345	0.87308	0.0:0.0:1.0:0.0	.	134;264;264	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	K	264;262;134	ENSP00000234420:E264K;ENSP00000446475:E134K	ENSP00000234420:E264K	E	+	1	0	MSH6	47879416	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.187000	0.94912	2.335000	0.79485	0.561000	0.74099	GAA	MSH6	-	pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.468	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0	21	0	G	NM_000179		48025912	1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	A	A	48025912	G	A	48025912	3	1	58	1	0	0	0	0	1	0	0	0	9912	1175	41	3	804	3	MSH6	2	48025912	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1038922	48025912	195173461	308	14691											
TSPYL6	388951	genome.wustl.edu	37	chr2	54482768	54482768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgctctgttttcttccGccacgtccatttcttcgcct	3	18	5	15	3	3	0	0	0	3	0	6	0	5	0	4	0	1	2	4	0	1	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:54482768G>A	ENST00000317802.7	-	1	641	c.521C>T	c.(520-522)gCg>gTg	p.A174V	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	174					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GTTTTCTTCCGCCACGTCCAT	0.617																																																	0													60	66	64					2																	54482768		2059	4196	6255	SO:0001583	missense	0			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.521C>T	2.37:g.54482768G>A	ENSP00000417919:p.Ala174Val		Q6NUJ3	Missense_Mutation	SNP	pfam_NAP_family	p.A174V	ENST00000317802.7	37	c.521	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	G	3.236	-0.156420	0.06544	.	.	ENSG00000178021	ENST00000317802	T	0.18657	2.2	1.47	-2.94	0.05581	.	.	.	.	.	T	0.07863	0.0197	N	0.11927	0.2	0.09310	N	1	B	0.21905	0.062	B	0.06405	0.002	T	0.25117	-1.0141	9	0.27785	T	0.31	.	0.5876	0.00722	0.2842:0.3412:0.1857:0.189	.	174	Q8N831	TSYL6_HUMAN	V	174	ENSP00000417919:A174V	ENSP00000417919:A174V	A	-	2	0	TSPYL6	54336272	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.047000	0.11963	-2.026000	0.00934	0.313000	0.20887	GCG	TSPYL6	-	NULL	ENSG00000178021		0.617	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	HGNC	protein_coding	OTTHUMT00000324069.3		0	13	0	G	XM_371494		54482768	-1			no_errors	ENST00000317802	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.000	A	A	54482768	G	A	54482768	3	1	58	1	0	0	0	0	1	0	0	0	16711	1087	38	1	715	1	TSPYL6	2	54482768	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6456856	54482768	188716605	309	14692											
SPTBN1	6711	genome.wustl.edu	37	chr2	54891759	54891759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaacccaggagacaccttCggcccagatggaaggcttcc	11	5	11	14	1	0	3	0	0	0	3	2	5	1	4	4	4	1	1	4	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:54891759C>T	ENST00000356805.4	+	33	6871	c.6590C>T	c.(6589-6591)tCg>tTg	p.S2197L	AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2197	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGACACCTTCGGCCCAGATG	0.587																																																	0													76	77	77					2																	54891759		2203	4300	6503	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6590C>T	2.37:g.54891759C>T	ENSP00000349259:p.Ser2197Leu		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S2197L	ENST00000356805.4	37	c.6590	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437340	0.43224	.	.	ENSG00000115306	ENST00000356805	T	0.31510	1.49	5.84	4.97	0.65823	Pleckstrin homology domain (1);	0.420938	0.24325	N	0.039506	T	0.30230	0.0758	L	0.56769	1.78	0.80722	D	1	B;P	0.35982	0.005;0.531	B;B	0.30029	0.007;0.11	T	0.07271	-1.0781	10	0.42905	T	0.14	.	15.2227	0.73327	0.0:0.9326:0.0:0.0674	.	187;2197	B4DIF8;Q01082	.;SPTB2_HUMAN	L	2197	ENSP00000349259:S2197L	ENSP00000349259:S2197L	S	+	2	0	SPTBN1	54745263	0.001000	0.12720	0.817000	0.32601	0.993000	0.82548	1.635000	0.37134	1.492000	0.48499	0.591000	0.81541	TCG	SPTBN1	-	pirsf_Spectrin_bsu,pfscan_Pleckstrin_homology	ENSG00000115306		0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	-	0	29	0	C			54891759	1	tier1	-	no_errors	ENST00000356805	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.478	T	T	54891759	C	T	54891759	3	4	58	1	0	0	0	0	1	0	0	0	15166	893	31	1	6916	1	SPTBN1	2	54891759	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	408991	54891759	188307614	310	14693											
VRK2	7444	genome.wustl.edu	37	chr2	58373508	58373509	+	Frame_Shift_Ins	INS	-	-	A																															ggcacacaataggttaatcgINSaaaaaaaagtccacagtgag																								rs139700760		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:58373508_58373509insA	ENST00000435505.2	+	15	1826_1827	c.1081_1082insA	c.(1081-1083)gaafs	p.E361fs	VRK2_ENST00000412104.2_Frame_Shift_Ins_p.E361fs|VRK2_ENST00000440705.2_Frame_Shift_Ins_p.E338fs|VRK2_ENST00000340157.4_Frame_Shift_Ins_p.E361fs|VRK2_ENST00000417641.2_Frame_Shift_Ins_p.E361fs			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	361					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TAGGTTAATCGAAAAAAAAGTC	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1089dupA	2.37:g.58373516_58373516dupA	ENSP00000408002:p.Glu361fs		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.V364fs	ENST00000435505.2	37	c.1081_1082	CCDS1859.1	2																																																																																			VRK2	-	NULL	ENSG00000028116		0.386	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2		0	21	0	-	NM_006296		58373509	1	tier1		no_errors	ENST00000340157	ensembl	human	known	74_37	frame_shift_ins	37.04	17	10	INS	0.001:0.000	A	A	58373509	-	A	58373508	7	5	58	1	0	1	1	0	0	0	0	0	17269	1059	37	0	1123	0	VRK2	2	58373508	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	3481749	58373508	184825865	311	14694											
USP34	9736	genome.wustl.edu	37	chr2	61438924	61438924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttattaaagtagtccaGcaggagcggccatctaagca	13	9	9	10	1	1	0	0	0	1	0	2	1	2	1	3	2	4	3	3	2	6	5	rs373843965		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:61438924G>A	ENST00000398571.2	-	69	8899	c.8823C>T	c.(8821-8823)tgC>tgT	p.C2941C	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2941					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGTAGTCCAGCAGGAGCGGC	0.338																																																	0													86	80	82					2																	61438924		1860	4097	5957	SO:0001819	synonymous_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8823C>T	2.37:g.61438924G>A			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.C2941	ENST00000398571.2	37	c.8823	CCDS42686.1	2																																																																																			USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0	48	0	G			61438924	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	silent	40.62	38	26	SNP	1.000	A	A	61438924	G	A	61438924	2	1	58	1	0	0	0	0	0	0	0	1	17114	963	34	3		3	USP34	2	61438924	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3065416	61438924	181760449	312	14695											
OTX1	5013	genome.wustl.edu	37	chr2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaccctgacatcttcatgCgggaggaggtggcgctcaag	8	8	14	11	2	3	1	2	1	1	0	3	3	3	3	1	4	2	2	1	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662																																																	0													82	81	82					2																	63281286		2203	4300	6503	SO:0001583	missense	0				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"Homeoboxes / PRD class"	8521	protein-coding gene	gene with protein product		600036	"orthodenticle (Drosophila) homolog 1", "orthodenticle homolog 1 (Drosophila)"			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.202C>T	2.37:g.63281286C>T	ENSP00000282549:p.Arg68Trp		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF	p.R68W	ENST00000282549.2	37	c.202	CCDS1873.1	2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791066	0.70452	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.97505	-4.41;-4.41	5.09	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	14.0454	0.64702	0.151:0.849:0.0:0.0	.	68	P32242	OTX1_HUMAN	W	68	ENSP00000355631:R68W;ENSP00000282549:R68W	ENSP00000282549:R68W	R	+	1	2	OTX1	63134790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	2.638000	0.89438	0.655000	0.94253	CGG	OTX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000115507		0.662	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX1	HGNC	protein_coding	OTTHUMT00000251617.1	-	0	61	0	C			63281286	1	tier1	-	no_errors	ENST00000282549	ensembl	human	known	74_37	missense	47.76	35	32	SNP	1.000	T	T	63281286	C	T	63281286	3	4	58	1	0	0	0	0	1	0	0	0	11359	759	27	1	208	1	OTX1	2	63281286	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1842362	63281286	179918087	313	14696											
SLC1A4	6509	genome.wustl.edu	37	chr2	65248232	65248232	+	Frame_Shift_Del	DEL	C	C	-																															acacaccagaaccccgctggCcccgtggccagtgccccaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:65248232delC	ENST00000234256.3	+	8	1794	c.1551delC	c.(1549-1551)ggcfs	p.G517fs	SLC1A4_ENST00000531327.1_Frame_Shift_Del_p.G219fs	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	517					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	ACCCCGCTGGCCCCGTGGCCA	0.607																																																	0													63	63	63					2																	65248232		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"Solute carriers"	10942	protein-coding gene	gene with protein product	"alanine/serine/cysteine/threonine transporter"	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1551delC	2.37:g.65248232delC	ENSP00000234256:p.Gly517fs		B7Z3C0|D6W5F0	Frame_Shift_Del	DEL	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V519fs	ENST00000234256.3	37	c.1551	CCDS1879.1	2																																																																																			SLC1A4	-	NULL	ENSG00000115902		0.607	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A4	HGNC	protein_coding	OTTHUMT00000251726.2		0	31	0	C	NM_003038		65248232	1	tier1		no_errors	ENST00000234256	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	0.025	-	-	65248232	C	-	65248232	7	5	58	1	0	1	0	1	0	0	0	0	14479	726	26	0	1581	0	SLC1A4	2	65248232	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1966946	65248232	177951141	314	14697											
ETAA1	54465	genome.wustl.edu	37	chr2	67626314	67626314	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatagaaaggtatgaaacAccaaagagagcgctgaaaat	20	7	9	5	1	0	4	0	2	0	2	0	5	0	4	1	1	2	2	1	1	9	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:67626314A>G	ENST00000272342.5	+	2	367	c.237A>G	c.(235-237)acA>acG	p.T79T		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	79						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGTATGAAACACCAAAGAGAG	0.363																																																	0													61	59	60					2																	67626314		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.237A>G	2.37:g.67626314A>G			Q05BT7|Q53SC4	Silent	SNP	NULL	p.T79	ENST00000272342.5	37	c.237	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	58	0	A	NM_019002		67626314	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	silent	44.64	31	25	SNP	0.896	G	G	67626314	A	G	67626314	2	3	58	1	0	0	0	0	0	0	0	1	5283	146	6	4		4	ETAA1	2	67626314	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2378082	67626314	175573059	315	14698											
PROKR1	10887	genome.wustl.edu	37	chr2	68882356	68882356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatccgcaagaggctgcGctgccgcaggaagacggtcc	9	4	15	13	4	0	3	0	0	0	3	2	4	2	4	3	3	2	5	3	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:68882356G>A	ENST00000303786.3	+	3	1250	c.830G>A	c.(829-831)cGc>cAc	p.R277H	PROKR1_ENST00000394342.2_Missense_Mutation_p.R277H			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	277					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGAGGCTGCGCTGCCGCAGG	0.622																																																	0													73	63	67					2																	68882356		2203	4300	6503	SO:0001583	missense	0			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.830G>A	2.37:g.68882356G>A	ENSP00000303775:p.Arg277His		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R277H	ENST00000303786.3	37	c.830	CCDS1889.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945180	0.73672	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.41400	1.0;1.0	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	M	0.75447	2.3	0.80722	D	1	P	0.48230	0.907	B	0.42851	0.4	T	0.57860	-0.7738	10	0.72032	D	0.01	.	15.6333	0.76929	0.0:0.0:1.0:0.0	.	277	Q8TCW9	PKR1_HUMAN	H	277	ENSP00000303775:R277H;ENSP00000377874:R277H	ENSP00000303775:R277H	R	+	2	0	PROKR1	68735860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.091000	0.71406	2.816000	0.96949	0.563000	0.77884	CGC	PROKR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169618		0.622	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	HGNC	protein_coding	OTTHUMT00000251760.2	-	0	59	0	G			68882356	1	tier1	-	no_errors	ENST00000303786	ensembl	human	known	74_37	missense	42.59	31	23	SNP	1.000	A	A	68882356	G	A	68882356	3	1	58	1	0	0	0	0	1	0	0	0	12594	1087	38	1	836	1	PROKR1	2	68882356	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1256042	68882356	174317017	316	14699											
AAK1	22848	genome.wustl.edu	37	chr2	69704020	69704020	+	Frame_Shift_Del	DEL	T	T	-																															cctttttcttaccttgtgggTttttggttatcaatacagga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:69704020delT	ENST00000409085.4	-	21	3159	c.2783delA	c.(2782-2784)aacfs	p.N928fs	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	928					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ACCTTGTGGGTTTTTGGTTAT	0.443																																																	0													118	119	119					2																	69704020		1860	4089	5949	SO:0001589	frameshift_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2783delA	2.37:g.69704020delT	ENSP00000386456:p.Asn928fs		Q4ZFZ3|Q53RX6|Q9UPV4	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N928fs	ENST00000409085.4	37	c.2783	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.443	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4		0	45	0	T	NM_014911		69704020	-1	tier1		no_errors	ENST00000409085	ensembl	human	known	74_37	frame_shift_del	35.00	26	14	DEL	1.000	-	-	69704020	T	-	69704020	7	5	58	1	0	1	0	1	0	0	0	0	16	1725	60	0	110	0	AAK1	2	69704020	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	821664	69704020	173495353	317	14700											
C2orf42	54980	genome.wustl.edu	37	chr2	70392682	70392682	+	Frame_Shift_Del	DEL	T	T	-																															gtggtggagttggggagccgTttttttgcacttcctataga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:70392682delT	ENST00000264434.2	-	7	1609	c.1230delA	c.(1228-1230)aaafs	p.K410fs	C2orf42_ENST00000420306.1_Frame_Shift_Del_p.K410fs	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	410										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGGGAGCCGTTTTTTTGCAC	0.408																																																	0													88	92	90					2																	70392682		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1230delA	2.37:g.70392682delT	ENSP00000264434:p.Lys410fs		D6W5G3|Q9H629	Frame_Shift_Del	DEL	NULL	p.K410fs	ENST00000264434.2	37	c.1230	CCDS1899.1	2																																																																																			C2orf42	-	NULL	ENSG00000115998		0.408	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1		0	55	0	T	NM_017880		70392682	-1			no_errors	ENST00000264434	ensembl	human	known	74_37	frame_shift_del	12.96	47	7	DEL	1.000	0	-	70392682	T	-	70392682	7	5	58	1	0	1	0	1	0	0	0	0	2173	1722	60	0	510	0	C2orf42	2	70392682	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	688662	70392682	172806691	318	14701											
FIGLA	344018	genome.wustl.edu	37	chr2	71017547	71017547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatccctcacccgctcaCgctccttggcgttggccaca	6	8	10	17	3	2	0	2	0	0	0	4	1	4	1	4	3	0	3	4	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:71017547C>T	ENST00000332372.6	-	1	228	c.224G>A	c.(223-225)cGt>cAt	p.R75H		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	75	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						CACCCGCTCACGCTCCTTGGC	0.677																																																	0													5	6	6					2																	71017547		1756	3735	5491	SO:0001583	missense	0			BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"Basic helix-loop-helix proteins"	24669	protein-coding gene	gene with protein product	"factor in the germline alpha"	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.224G>A	2.37:g.71017547C>T	ENSP00000333097:p.Arg75His			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R75H	ENST00000332372.6	37	c.224	CCDS46320.1	2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994736	0.54041	.	.	ENSG00000183733	ENST00000332372	D	0.94000	-3.33	3.83	3.83	0.44106	Helix-loop-helix DNA-binding (5);	0.268108	0.23836	N	0.044081	D	0.97102	0.9053	M	0.93106	3.38	0.45662	D	0.998582	D	0.89917	1.0	D	0.72075	0.976	D	0.97828	1.0261	10	0.87932	D	0	.	13.2821	0.60222	0.0:1.0:0.0:0.0	.	75	Q6QHK4	FIGLA_HUMAN	H	75	ENSP00000333097:R75H	ENSP00000333097:R75H	R	-	2	0	FIGLA	70871055	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	3.840000	0.55843	1.965000	0.57142	0.313000	0.20887	CGT	FIGLA	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000183733		0.677	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGLA	HGNC	protein_coding	OTTHUMT00000331214.1	-	0	12	0	C	NM_001004311		71017547	-1	tier1	-	no_errors	ENST00000332372	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	T	T	71017547	C	T	71017547	3	4	58	1	0	0	0	0	1	0	0	0	5912	536	19	1	455	1	FIGLA	2	71017547	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	624865	71017547	172181826	319	14702											
PAIP2B	400961	genome.wustl.edu	37	chr2	71417056	71417056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcccatggcctgaggcagGtctcgtgagggaataaacca	10	8	13	10	1	1	2	0	2	1	0	3	3	2	3	3	4	1	1	3	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:71417056G>T	ENST00000244221.8	-	3	400	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	78					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						CCTGAGGCAGGTCTCGTGAGG	0.483																																																	0													62	60	60					2																	71417056		1967	4171	6138	SO:0001583	missense	0				CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.234C>A	2.37:g.71417056G>T	ENSP00000244221:p.Asp78Glu			Missense_Mutation	SNP	pfam_Ataxin-2_C	p.D78E	ENST00000244221.8	37	c.234	CCDS46322.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683169	0.88542	.	.	ENSG00000124374	ENST00000244221	.	.	.	5.59	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.72154	-0.4376	9	0.27082	T	0.32	-12.1684	12.2964	0.54849	0.0821:0.0:0.9179:0.0	.	78	Q9ULR5	PAI2B_HUMAN	E	78	.	ENSP00000244221:D78E	D	-	3	2	PAIP2B	71270564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.543000	0.53633	1.368000	0.46115	0.467000	0.42956	GAC	PAIP2B	-	NULL	ENSG00000124374		0.483	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAIP2B	HGNC	protein_coding	OTTHUMT00000330547.2	-	0	52	0	G	XM_376062		71417056	-1	tier1	-	no_errors	ENST00000244221	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	71417056	G	T	71417056	3	4	58	1	0	0	0	0	1	0	0	0	11437	1252	44	3	145	3	PAIP2B	2	71417056	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	399509	71417056	171782317	320	14703											
RAB11FIP5	26056	genome.wustl.edu	37	chr2	73316229	73316229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcaggatcctctatggCgctgcttgggaggatggcag	7	9	16	9	1	2	0	1	0	1	0	3	3	3	3	1	6	1	3	1	6	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:73316229C>T	ENST00000258098.6	-	2	886	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	216					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTCTATGGCGCTGCTTGGG	0.557																																																	0													159	149	152					2																	73316229		2203	4300	6503	SO:0001583	missense	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.646G>A	2.37:g.73316229C>T	ENSP00000258098:p.Ala216Thr		O94939|Q9P0M1	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A216T	ENST00000258098.6	37	c.646	CCDS1923.1	2	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994549	0.35226	.	.	ENSG00000135631	ENST00000258098	T	0.55052	0.54	4.84	4.84	0.62591	.	0.228742	0.37577	N	0.002028	T	0.22742	0.0549	N	0.02247	-0.625	0.29878	N	0.826231	P;P	0.44429	0.835;0.835	B;B	0.32805	0.153;0.153	T	0.09930	-1.0652	10	0.11182	T	0.66	-19.2978	17.0426	0.86493	0.0:1.0:0.0:0.0	.	216;216	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	T	216	ENSP00000258098:A216T	ENSP00000258098:A216T	A	-	1	0	RAB11FIP5	73169737	0.952000	0.32445	0.997000	0.53966	0.883000	0.51084	4.593000	0.61034	2.688000	0.91661	0.561000	0.74099	GCC	RAB11FIP5	-	NULL	ENSG00000135631		0.557	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	-	0	85	0	C	NM_015470		73316229	-1	tier1	-	no_errors	ENST00000258098	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.999	T	T	73316229	C	T	73316229	3	4	58	1	0	0	0	0	1	0	0	0	12942	768	27	1	1331	1	RAB11FIP5	2	73316229	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1899173	73316229	169883144	321	14704											
ALMS1	7840	genome.wustl.edu	37	chr2	73676528	73676528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaattctcactcacatagCgagaaatctagtgttttcta	12	15	5	9	1	5	1	2	0	4	1	6	2	5	1	0	0	1	1	0	0	5	7	rs541122374		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:73676528C>T	ENST00000264448.6	+	8	2982	c.2871C>T	c.(2869-2871)agC>agT	p.S957S	ALMS1_ENST00000409009.1_Silent_p.S915S|ALMS1_ENST00000377715.1_Silent_p.S957S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	957	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTCACATAGCGAGAAATCTA	0.448													C|||	1	0.000199681	8e-04	0	5008	,	,		19917	0		0	False		,,,				2504	0																0													96	92	93					2																	73676528		1856	4106	5962	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2871C>T	2.37:g.73676528C>T			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.S957	ENST00000264448.6	37	c.2871	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	13	0	C	NM_015120		73676528	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	silent	52.00	12	13	SNP	0.000	T	T	73676528	C	T	73676528	2	4	58	1	0	0	0	0	0	0	0	1	535	767	27	1		1	ALMS1	2	73676528	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	360299	73676528	169522845	322	14705											
MOGS	7841	genome.wustl.edu	37	chr2	74692123	74692123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacggcggggctggaggaGtcggcaggcaacacaggagg	9	2	20	10	3	0	0	0	0	0	0	1	3	0	3	1	9	1	3	1	9	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:74692123G>C	ENST00000233616.4	-	1	414	c.252C>G	c.(250-252)gaC>gaG	p.D84E	MOGS_ENST00000535045.1_Missense_Mutation_p.D84E|MOGS_ENST00000409065.1_Missense_Mutation_p.D84E|MOGS_ENST00000452063.2_Intron|MOGS_ENST00000462443.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	84	Required for endoplasmic reticulum targeting. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTGGAGGAGTCGGCAGGCA	0.701																																																	0													14	20	18					2																	74692123		2103	4188	6291	SO:0001583	missense	0			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"glucosidase I", "processing A-glucosidase I"	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.252C>G	2.37:g.74692123G>C	ENSP00000233616:p.Asp84Glu		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.D84E	ENST00000233616.4	37	c.252	CCDS42700.1	2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709888	0.30322	.	.	ENSG00000115275	ENST00000233616;ENST00000409065;ENST00000535045	T;T;T	0.36340	1.26;1.26;1.26	4.81	3.94	0.45596	.	0.187606	0.45361	D	0.000380	T	0.19967	0.0480	L	0.29908	0.895	0.32379	N	0.554846	P;B	0.35493	0.505;0.334	B;B	0.33846	0.171;0.089	T	0.20672	-1.0268	10	0.02654	T	1	-10.4234	8.8951	0.35458	0.1001:0.0:0.8999:0.0	.	84;84	B4E3B8;Q13724	.;MOGS_HUMAN	E	84	ENSP00000233616:D84E;ENSP00000386493:D84E;ENSP00000439971:D84E	ENSP00000233616:D84E	D	-	3	2	MOGS	74545631	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	1.440000	0.35024	1.251000	0.43983	-0.140000	0.14226	GAC	MOGS	-	pfam_Glycoside_hydrolase_63	ENSG00000115275		0.701	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	HGNC	protein_coding	OTTHUMT00000328382.1	-	0	21	0	G	NM_006302		74692123	-1	tier1	-	no_errors	ENST00000233616	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	C	C	74692123	G	C	74692123	3	2	58	1	0	0	0	0	1	0	0	0	9735	1020	36	5	2277	5	MOGS	2	74692123	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1015595	74692123	168507250	323	14706											
CCDC142	84865	genome.wustl.edu	37	chr2	74709916	74709916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggttgcgccctcagcggggGcacgataacgagtggaggca	8	5	18	10	4	1	0	1	0	0	0	1	3	1	1	1	5	3	3	1	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:74709916G>A	ENST00000393965.3	-	1	445	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.P17S|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	17										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTCAGCGGGGGCACGATAACG	0.672																																																	0													37	43	41					2																	74709916		2173	4250	6423	SO:0001583	missense	0			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.49C>T	2.37:g.74709916G>A	ENSP00000377537:p.Pro17Ser		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.P17S	ENST00000393965.3	37	c.49		2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798137	0.31777	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.09073	3.02;3.02	3.98	-1.35	0.09114	.	0.676335	0.12931	N	0.427378	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B;B;B	0.19331	0.035;0.035;0.035	B;B;B	0.15484	0.013;0.013;0.013	T	0.41124	-0.9526	9	.	.	.	-2.8741	4.1841	0.10390	0.4573:0.1772:0.3655:0.0	.	17;17;17	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	S	17	ENSP00000377537:P17S;ENSP00000290418:P17S	.	P	-	1	0	CCDC142	74563424	0.027000	0.19231	0.001000	0.08648	0.000000	0.00434	0.201000	0.17276	-0.285000	0.09089	-0.345000	0.07892	CCC	CCDC142	-	NULL	ENSG00000135637		0.672	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	-	0	36	0	G	NM_032779		74709916	-1	tier1	-	no_errors	ENST00000393965	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.001	A	A	74709916	G	A	74709916	3	1	58	1	0	0	0	0	1	0	0	0	2783	1203	42	3	2218	3	CCDC142	2	74709916	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	17793	74709916	168489457	324	14707											
C2orf3	6936	genome.wustl.edu	37	chr2	75916352	75916352	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctgtaaaatgtcacCtgtaaacaaaataagtctct	14	14	5	8	0	3	0	1	0	2	0	4	0	3	0	1	0	1	3	1	0	7	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:75916352C>A	ENST00000321027.3	-	10	1473		c.e10-1		GCFC2_ENST00000409857.3_Splice_Site|GCFC2_ENST00000541687.1_Splice_Site|MRPL19_ENST00000358788.6_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										AAAATGTCACCTGTAAACAAA	0.308																																																	0													49	55	53					2																	75916352		2203	4297	6500	SO:0001630	splice_region_variant	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1340-1G>T	2.37:g.75916352C>A			A4UHQ8|O95032|Q53TY0|Q6P2F2	Splice_Site	SNP	-	e10-1	ENST00000321027.3	37	c.1340-1	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300635	0.60195	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5264	0.75910	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2orf3	75769860	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	6.780000	0.75063	2.322000	0.78497	0.462000	0.41574	.	GCFC2	-	-	ENSG00000005436		0.308	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	-	0	27	0	C	NM_003203	Intron	75916352	-1	tier1	-	no_errors	ENST00000321027	ensembl	human	known	74_37	splice_site	32.35	23	11	SNP	1.000	A	A	75916352	C	A	75916352	5	1	58	1	0	0	0	0	0	0	1	0	2169	695	24	3	1038	3	C2orf3	2	75916352	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1206436	75916352	167283021	325	14708											
CTNNA2	1496	genome.wustl.edu	37	chr2	80085237	80085237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaagggctttgctctccGcggtgacacgcttactcatc	6	10	11	14	4	2	1	1	1	1	0	4	1	2	1	1	3	2	4	1	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:80085237G>A	ENST00000402739.4	+	3	402	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	CTNNA2_ENST00000466387.1_Missense_Mutation_p.A133T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A133T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A133T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A167T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A133T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	133					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A133S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTTGCTCTCCGCGGTGACACG	0.517																																																	2	Substitution - Missense(2)	lung(2)											81	79	80					2																	80085237		2055	4187	6242	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.397G>A	2.37:g.80085237G>A	ENSP00000384638:p.Ala133Thr		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A167T	ENST00000402739.4	37	c.499		2	.	.	.	.	.	.	.	.	.	.	G	32	5.176021	0.94846	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.86953	2.85	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.998	P;P;P	0.62491	0.712;0.903;0.903	T	0.73874	-0.3845	10	0.66056	D	0.02	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	133;133;133	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	133;133;167;133;133;133	ENSP00000418191:A133T;ENSP00000419295:A133T;ENSP00000355398:A167T;ENSP00000384638:A133T;ENSP00000444675:A133T;ENSP00000441705:A133T	ENSP00000355398:A167T	A	+	1	0	CTNNA2	79938745	1.000000	0.71417	0.168000	0.22838	0.585000	0.36419	9.869000	0.99810	2.677000	0.91161	0.655000	0.94253	GCG	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000066032		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0	51	0	G	NM_004389		80085237	1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	34.88	26	15	SNP	1.000	A	A	80085237	G	A	80085237	3	1	58	1	0	0	0	0	1	0	0	0	4022	1087	38	1	407	1	CTNNA2	2	80085237	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4168885	80085237	163114136	326	14709											
TGOLN2	10618	genome.wustl.edu	37	chr2	85555050	85555050	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcttacccgccgctgcGacgttcaggaggaccaaggc	8	6	14	13	4	2	0	1	0	1	0	2	3	2	2	3	4	2	2	3	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:85555050G>T	ENST00000409232.3	-	1	97	c.36C>A	c.(34-36)gtC>gtA	p.V12V	TGOLN2_ENST00000398263.2_Silent_p.V12V|TGOLN2_ENST00000409015.1_Silent_p.V12V|TGOLN2_ENST00000444342.2_Silent_p.V12V|TGOLN2_ENST00000282120.2_Silent_p.V12V|TGOLN2_ENST00000377386.3_Silent_p.V12V			O43493	TGON2_HUMAN	trans-golgi network protein 2	12						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CCGCCGCTGCGACGTTCAGGA	0.647																																																	0													26	32	30					2																	85555050		2036	4168	6204	SO:0001819	synonymous_variant	0			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"trans-Golgi network protein (46, 48, 51kD isoforms)"	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.36C>A	2.37:g.85555050G>T			B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	NULL	p.V12	ENST00000409232.3	37	c.36	CCDS56126.1	2																																																																																			TGOLN2	-	NULL	ENSG00000152291		0.647	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	-	0	104	0	G	NM_006464		85555050	-1	tier1	-	no_errors	ENST00000377386	ensembl	human	known	74_37	silent	7.14	91	7	SNP	0.138	T	T	85555050	G	T	85555050	2	4	58	1	0	0	0	0	0	0	0	1	15883	1045	37	2		2	TGOLN2	2	85555050	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5469813	85555050	157644323	327	14710											
CAPG	822	genome.wustl.edu	37	chr2	85622671	85622671	+	Frame_Shift_Del	DEL	G	G	-																															atctcctcacctgagtgttcGgggcgtactgcatgcgcgag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:85622671delG	ENST00000409921.1	-	9	992	c.926delC	c.(925-927)ccgfs	p.P309fs	CAPG_ENST00000409670.1_Frame_Shift_Del_p.P324fs|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Frame_Shift_Del_p.P324fs|CAPG_ENST00000409724.1_Frame_Shift_Del_p.P324fs			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTGAGTGTTCGGGGCGTACTG	0.602																																																	0													59	53	55					2																	85622671		2203	4300	6503	SO:0001589	frameshift_variant	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.926delC	2.37:g.85622671delG	ENSP00000387063:p.Pro309fs		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Del	DEL	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.P324fs	ENST00000409921.1	37	c.971	CCDS58715.1	2																																																																																			CAPG	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000042493		0.602	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	HGNC	protein_coding	OTTHUMT00000329383.1		0	41	0	G	NM_001747		85622671	-1	tier1		no_errors	ENST00000263867	ensembl	human	known	74_37	frame_shift_del	46.15	21	18	DEL	0.057	-	-	85622671	G	-	85622671	7	5	58	1	0	1	0	1	0	0	0	0	2628	1116	39	0	83	0	CAPG	2	85622671	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	67621	85622671	157576702	328	14711	60	2									
CAPG	822	genome.wustl.edu	37	chr2	85622675	85622675	+	Missense_Mutation	SNP	C	C	T																															cctcacctgagtgttcggggCgtactgcatgcgcgagatga																								rs566538644		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:85622675C>T	ENST00000409921.1	-	9	988	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	CAPG_ENST00000409670.1_Missense_Mutation_p.A323T|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Missense_Mutation_p.A323T|CAPG_ENST00000409724.1_Missense_Mutation_p.A323T			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GTGTTCGGGGCGTACTGCATG	0.587													C|||	1	0.000199681	0	0	5008	,	,		16906	0.001		0	False		,,,				2504	0																0													60	54	56					2																	85622675		2203	4300	6503	SO:0001583	missense	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.922G>A	2.37:g.85622675C>T	ENSP00000387063:p.Ala308Thr		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.A323T	ENST00000409921.1	37	c.967	CCDS58715.1	2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792029	0.31685	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.58	3.72	0.42706	Gelsolin domain (1);	0.167769	0.53938	D	0.000058	T	0.30510	0.0767	L	0.39898	1.24	0.33702	D	0.614673	B;B;B	0.19331	0.035;0.0;0.001	B;B;B	0.12156	0.007;0.001;0.001	T	0.37911	-0.9685	10	0.59425	D	0.04	.	5.9963	0.19495	0.1973:0.7075:0.0:0.0952	.	302;308;323	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	T	302;323;78;308;323;323	ENSP00000263867:A323T;ENSP00000397381:A78T;ENSP00000387063:A308T;ENSP00000386315:A323T;ENSP00000386965:A323T	ENSP00000263867:A323T	A	-	1	0	CAPG	85476186	0.272000	0.24172	0.313000	0.25210	0.003000	0.03518	0.597000	0.24059	1.305000	0.44909	0.491000	0.48974	GCC	CAPG	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000042493		0.587	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	HGNC	protein_coding	OTTHUMT00000329383.1	-	0	38	0	C	NM_001747		85622675	-1	tier1	-	no_errors	ENST00000263867	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.933	T	T	85622675	C	T	85622675	3	4	58	1	0	0	0	0	1	0	0	0	2628	768	27	1	87	1	CAPG	2	85622675	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4	85622675	157576698	329	14712	60	2									
POLR1A	25885	genome.wustl.edu	37	chr2	86302261	86302261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggctgtgcggctgccGtcctcattgatgaccatgga	6	10	13	12	2	2	2	2	2	0	0	3	3	3	3	3	3	2	2	3	3	0	1	rs543626300		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:86302261G>A	ENST00000263857.6	-	12	1881	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	POLR1A_ENST00000409681.1_Silent_p.D501D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	501					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCGGCTGCCGTCCTCATTGA	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		17862	0		0	False		,,,				2504	0																0													34	37	36					2																	86302261		2033	4194	6227	SO:0001819	synonymous_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"RNA polymerase subunits"	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1503C>T	2.37:g.86302261G>A			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.D501	ENST00000263857.6	37	c.1503	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_asu,smart_RNA_pol_N	ENSG00000068654		0.622	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	-	0	140	0	G	NM_015425		86302261	-1	tier1	-	no_errors	ENST00000263857	ensembl	human	known	74_37	silent	46.55	61	54	SNP	0.959	A	A	86302261	G	A	86302261	2	1	58	1	0	0	0	0	0	0	0	1	12248	1136	40	1		1	POLR1A	2	86302261	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	679586	86302261	156897112	330	14713											
SMYD1	150572	genome.wustl.edu	37	chr2	88383895	88383895	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagctccatcgctgtggGcagtgcaagtttgcccatta	9	10	12	10	1	0	1	0	0	0	1	2	2	1	1	2	1	3	5	2	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:88383895G>A	ENST00000419482.2	+	2	283	c.198G>A	c.(196-198)ggG>ggA	p.G66G	SMYD1_ENST00000444564.2_Silent_p.G66G|MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Silent_p.G66G	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	66	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ATCGCTGTGGGCAGTGCAAGT	0.507																																																	0													113	94	100					2																	88383895		2203	4300	6503	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.198G>A	2.37:g.88383895G>A			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.G66	ENST00000419482.2	37	c.198	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_Znf_MYND	ENSG00000115593		0.507	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0	54	0	G	XM_097915		88383895	1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	silent	44.64	31	25	SNP	0.947	A	A	88383895	G	A	88383895	2	1	58	1	0	0	0	0	0	0	0	1	14866	1190	42	3		3	SMYD1	2	88383895	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2081634	88383895	154815478	331	14714											
RPIA	22934	genome.wustl.edu	37	chr2	89034075	89034075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccaatacagatcgacCttgccatcgatggtgctgat	9	11	8	13	2	0	2	0	1	0	1	3	4	1	2	4	1	3	1	4	1	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:89034075C>A	ENST00000283646.4	+	5	524	c.469C>A	c.(469-471)Ctt>Att	p.L157I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	157					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ACAGATCGACCTTGCCATCGA	0.502																																																	0													141	133	136					2																	89034075		1958	4146	6104	SO:0001583	missense	0			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"ribose 5-phosphate epimerase"	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.469C>A	2.37:g.89034075C>A	ENSP00000283646:p.Leu157Ile		Q541P9|Q96BJ6	Missense_Mutation	SNP	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	p.L157I	ENST00000283646.4	37	c.469	CCDS2004.2	2	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856541	0.17106	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77358	-1.09	5.76	3.9	0.45041	.	0.176432	0.48286	D	0.000198	T	0.63581	0.2523	N	0.25094	0.71	0.36276	D	0.855477	B	0.25105	0.118	B	0.29353	0.101	T	0.59563	-0.7431	10	0.16420	T	0.52	-2.3838	11.2488	0.49013	0.1199:0.4746:0.4055:0.0	.	157	P49247	RPIA_HUMAN	I	157;23	ENSP00000283646:L157I	ENSP00000283646:L157I	L	+	1	0	RPIA	88815190	1.000000	0.71417	0.986000	0.45419	0.613000	0.37349	3.797000	0.55514	0.829000	0.34733	0.655000	0.94253	CTT	RPIA	-	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	ENSG00000153574		0.502	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPIA	HGNC	protein_coding	OTTHUMT00000252683.2	-	0	99	0	C			89034075	1	tier1	-	no_errors	ENST00000283646	ensembl	human	known	74_37	missense	37.93	72	44	SNP	1.000	A	A	89034075	C	A	89034075	3	1	58	1	0	0	0	0	1	0	0	0	13598	681	24	3	487	3	RPIA	2	89034075	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	650180	89034075	154165298	332	14715											
PROM2	150696	genome.wustl.edu	37	chr2	95947697	95947697	+	Frame_Shift_Del	DEL	C	C	-																															cagacaccccagggaacctgCccccgtccatgaacctgtcg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:95947697delC	ENST00000317620.9	+	13	1709	c.1576delC	c.(1576-1578)cccfs	p.P527fs	PROM2_ENST00000542147.1_Frame_Shift_Del_p.P527fs|PROM2_ENST00000317668.4_Frame_Shift_Del_p.P527fs|PROM2_ENST00000403131.2_Frame_Shift_Del_p.P527fs	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	527					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.P526T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGAACCTGCCCCCGTCCAT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											101	95	97					2																	95947697		2203	4300	6503	SO:0001589	frameshift_variant	0			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1576delC	2.37:g.95947697delC	ENSP00000318270:p.Pro527fs		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Frame_Shift_Del	DEL	pfam_Prominin	p.P527fs	ENST00000317620.9	37	c.1576	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin	ENSG00000155066		0.637	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1		0	93	0	C	NM_144707		95947697	1	tier1		no_errors	ENST00000317620	ensembl	human	known	74_37	frame_shift_del	16.67	30	6	DEL	0.998	-	-	95947697	C	-	95947697	7	5	58	1	0	1	0	1	0	0	0	0	12598	739	26	0	1626	0	PROM2	2	95947697	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	6913622	95947697	147251676	333	14716											
FAHD2A	51011	genome.wustl.edu	37	chr2	96078465	96078466	+	Frame_Shift_Ins	INS	-	-	C																															ggatgtcatcctaactgggaINScccccccaggtgtcggtgta																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:96078465_96078466insC	ENST00000233379.4	+	7	988_989	c.835_836insC	c.(835-837)accfs	p.T279fs	FAHD2A_ENST00000447036.1_Frame_Shift_Ins_p.T279fs	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	279							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCTAACTGGGACCCCCCCAGGT	0.559																																																	0																																										SO:0001589	frameshift_variant	0			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.842dupC	2.37:g.96078472_96078472dupC	ENSP00000233379:p.Thr279fs		Q9Y3B0	Frame_Shift_Ins	INS	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.G282fs	ENST00000233379.4	37	c.835_836	CCDS2014.1	2																																																																																			FAHD2A	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000115042		0.559	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1		0	67	0	-	NM_016044		96078466	1	tier1		no_errors	ENST00000233379	ensembl	human	known	74_37	frame_shift_ins	33.33	36	18	INS	1.000:0.997	C	C	96078466	-	C	96078465	7	5	58	1	0	1	1	0	0	0	0	0	5392	275	10	0	857	0	FAHD2A	2	96078465	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	130768	96078465	147120908	334	14717											
TRIM43	129868	genome.wustl.edu	37	chr2	96262096	96262096	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagagaagttgggtcaaAatggatcaaaagagtaaaca	18	7	10	6	0	2	2	2	0	0	2	3	4	3	3	1	2	1	2	1	2	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:96262096A>G	ENST00000272395.2	+	4	790	c.654A>G	c.(652-654)aaA>aaG	p.K218K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	218						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GTTGGGTCAAAATGGATCAAA	0.398																																																	0													11	11	11					2																	96262096		2145	4236	6381	SO:0001819	synonymous_variant	0			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.654A>G	2.37:g.96262096A>G			Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K218	ENST00000272395.2	37	c.654	CCDS2015.1	2																																																																																			TRIM43	-	NULL	ENSG00000144015		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	-	0	149	0	A	NM_138800		96262096	1	tier1	-	no_errors	ENST00000272395	ensembl	human	known	74_37	silent	28.93	86	35	SNP	0.030	G	G	96262096	A	G	96262096	2	3	58	1	0	0	0	0	0	0	0	1	16566	11	1	4		4	TRIM43	2	96262096	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	183631	96262096	146937277	335	14718											
ARID5A	10865	genome.wustl.edu	37	chr2	97216896	97216896	+	Frame_Shift_Del	DEL	C	C	-																															caccacttcccagccaggagCcccccaggaacagcacagaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97216896delC	ENST00000357485.3	+	7	709	c.631delC	c.(631-633)cccfs	p.P212fs	ARID5A_ENST00000454558.2_Frame_Shift_Del_p.P144fs	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	212					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R213fs*25(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CAGCCAGGAGCCCCCCAGGAA	0.597																																																	1	Insertion - Frameshift(1)	large_intestine(1)											59	67	65					2																	97216896		2203	4300	6503	SO:0001589	frameshift_variant	0			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"-"	17361	protein-coding gene	gene with protein product	"modulator recognition factor 1"	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.631delC	2.37:g.97216896delC	ENSP00000350078:p.Pro212fs		Q6NX37	Frame_Shift_Del	DEL	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R213fs	ENST00000357485.3	37	c.631	CCDS33251.1	2																																																																																			ARID5A	-	NULL	ENSG00000196843		0.597	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2		0	40	0	C	NM_212481		97216896	1	tier1		no_errors	ENST00000357485	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.000	-	-	97216896	C	-	97216896	7	5	58	1	0	1	0	1	0	0	0	0	921	739	26	0	657	0	ARID5A	2	97216896	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	954800	97216896	145982477	336	14719											
FAHD2B	151313	genome.wustl.edu	37	chr2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-																															tcctgaatacaccgacacctGggggggtcccagttaggatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000468548.1_5'Flank			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552																																																	0													29	31	30					2																	97749725		2203	4297	6500	SO:0001589	frameshift_variant	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.842delC	2.37:g.97749725delG	ENSP00000410470:p.Pro281fs		D3DXH7|Q8NDK1	Frame_Shift_Del	DEL	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.P281fs	ENST00000414820.1	37	c.842	CCDS2030.1	2																																																																																			FAHD2B	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000144199		0.552	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1		0	80	0	G	NM_199336		97749725	-1	tier1		no_errors	ENST00000272610	ensembl	human	known	74_37	frame_shift_del	29.27	58	24	DEL	1.000	-	-	97749725	G	-	97749725	7	5	58	1	0	1	0	1	0	0	0	0	5393	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	532829	97749725	145449648	337	14720											
FAHD2B	151313	genome.wustl.edu	37	chr2	97756048	97756048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggtaggactggcaacTgggcagccaaggctctgtag	10	7	14	10	0	1	0	0	0	1	0	1	1	1	1	2	5	2	5	2	5	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97756048T>C	ENST00000414820.1	-	4	530	c.260A>G	c.(259-261)cAg>cGg	p.Q87R	FAHD2B_ENST00000272610.3_Missense_Mutation_p.Q87R|FAHD2B_ENST00000440566.2_Missense_Mutation_p.Q87R|FAHD2B_ENST00000468548.1_5'UTR			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	87							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GACTGGCAACTGGGCAGCCAA	0.582																																																	0													59	48	52					2																	97756048		2201	4298	6499	SO:0001583	missense	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.260A>G	2.37:g.97756048T>C	ENSP00000410470:p.Gln87Arg		D3DXH7|Q8NDK1	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.Q87R	ENST00000414820.1	37	c.260	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	t	6.781	0.513072	0.12944	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	T;T;T	0.29655	1.56;1.56;1.56	0.596	-1.19	0.09585	.	0.417750	0.26352	N	0.024870	T	0.15132	0.0365	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09314	-1.0680	10	0.41790	T	0.15	.	4.2385	0.10637	0.0:0.0:0.3451:0.6548	.	87	Q6P2I3	FAH2B_HUMAN	R	87	ENSP00000410470:Q87R;ENSP00000272610:Q87R;ENSP00000444599:Q87R	ENSP00000272610:Q87R	Q	-	2	0	FAHD2B	97119775	0.129000	0.22400	0.390000	0.26220	0.783000	0.44284	0.230000	0.17852	-0.541000	0.06257	0.234000	0.17832	CAG	FAHD2B	-	NULL	ENSG00000144199		0.582	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	-	0	123	0	T	NM_199336		97756048	-1	tier1	-	no_errors	ENST00000272610	ensembl	human	known	74_37	missense	36.96	58	34	SNP	0.189	C	C	97756048	T	C	97756048	3	2	58	1	0	0	0	0	1	0	0	0	5393	1580	55	4	708	4	FAHD2B	2	97756048	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	6323	97756048	145443325	338	14721											
FAHD2B	151313	genome.wustl.edu	37	chr2	97757244	97757244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgctctaggaactgcGtcatcgtctttgggagtgtg	5	13	12	11	2	3	0	1	0	2	0	5	2	4	2	1	2	3	1	1	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97757244G>A	ENST00000414820.1	-	3	470	c.200C>T	c.(199-201)aCg>aTg	p.T67M	FAHD2B_ENST00000272610.3_Missense_Mutation_p.T67M|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T67M|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	67							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TAGGAACTGCGTCATCGTCTT	0.607																																																	0													79	71	73					2																	97757244		2203	4299	6502	SO:0001583	missense	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.200C>T	2.37:g.97757244G>A	ENSP00000410470:p.Thr67Met		D3DXH7|Q8NDK1	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.T67M	ENST00000414820.1	37	c.200	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	g	6.969	0.548820	0.13312	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	T;T;T	0.30981	1.51;1.51;1.51	0.707	-1.21	0.09524	.	0.387001	0.25948	N	0.027278	T	0.14313	0.0346	N	0.24115	0.695	0.21527	N	0.999654	B	0.06786	0.001	B	0.04013	0.001	T	0.08868	-1.0701	10	0.41790	T	0.15	.	2.2337	0.04002	0.4088:0.3128:0.2784:0.0	.	67	Q6P2I3	FAH2B_HUMAN	M	67	ENSP00000410470:T67M;ENSP00000272610:T67M;ENSP00000444599:T67M	ENSP00000272610:T67M	T	-	2	0	FAHD2B	97120971	0.998000	0.40836	0.775000	0.31657	0.259000	0.26198	0.866000	0.27954	-0.387000	0.07809	0.162000	0.16502	ACG	FAHD2B	-	NULL	ENSG00000144199		0.607	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	-	0	102	0	G	NM_199336		97757244	-1	tier1	-	no_errors	ENST00000272610	ensembl	human	known	74_37	missense	42.35	49	36	SNP	0.991	A	A	97757244	G	A	97757244	3	1	58	1	0	0	0	0	1	0	0	0	5393	1145	40	1	772	1	FAHD2B	2	97757244	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1196	97757244	145442129	339	14722											
ANKRD36	375248	genome.wustl.edu	37	chr2	97899538	97899538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaacagtctcagaggaCggtgactcgctttgctgtaa	10	11	10	10	2	2	2	2	1	2	1	5	3	2	3	0	2	2	3	0	2	2	2	rs542257844	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97899538C>T	ENST00000461153.2	+	68	4345	c.4101C>T	c.(4099-4101)gaC>gaT	p.D1367D	ANKRD36_ENST00000420699.2_Silent_p.D1367D			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1367										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTCAGAGGACGGTGACTCGC	0.338													c|||	2	0.000399361	0.0015	0	5008	,	,		22695	0		0	False		,,,				2504	0																0													1	1	1					2																	97899538		448	1040	1488	SO:0001819	synonymous_variant	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.4101C>T	2.37:g.97899538C>T			B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1367	ENST00000461153.2	37	c.4101	CCDS54379.1	2																																																																																			ANKRD36	-	NULL	ENSG00000135976		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	29	0	C			97899538	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.094	T	T	97899538	C	T	97899538	2	4	58	1	0	0	0	0	0	0	0	1	665	535	19	1		1	ANKRD36	2	97899538	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	142294	97899538	145299835	340	14723											
ZAP70	7535	genome.wustl.edu	37	chr2	98351785	98351785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggaagagatgatgcgCgaggcgcagatcatgcacca	13	4	14	10	4	1	3	1	1	0	2	1	7	1	4	1	2	2	2	1	2	1	0	rs193922633		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:98351785C>T	ENST00000264972.5	+	10	1370	c.1155C>T	c.(1153-1155)cgC>cgT	p.R385R	ZAP70_ENST00000451498.2_Silent_p.R78R|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R259R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGATGATGCGCGAGGCGCAGA	0.642																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	154	126	136		1155,234	-11.3	0	2		136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZAP70	NM_001079.3,NM_207519.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	385/620,78/313	98351785	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1155C>T	2.37:g.98351785C>T			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R385	ENST00000264972.5	37	c.1155	CCDS33254.1	2																																																																																			ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom	ENSG00000115085		0.642	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	-	0	62	0	C			98351785	1	tier1	rs193922633	no_errors	ENST00000264972	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.000	T	T	98351785	C	T	98351785	2	4	58	1	0	0	0	0	0	0	0	1	17563	755	27	1		1	ZAP70	2	98351785	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	452247	98351785	144847588	341	14724											
VWA3B	200403	genome.wustl.edu	37	chr2	98804579	98804579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccacacagccctggccCggatccgaaggaggttggtg	9	6	14	12	2	0	0	0	0	0	0	2	4	2	2	4	5	1	1	4	5	2	1	rs200956872		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:98804579C>T	ENST00000477737.1	+	10	1657	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	VWA3B_ENST00000451075.2_Missense_Mutation_p.R335W|VWA3B_ENST00000435344.1_Missense_Mutation_p.R485W	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	485										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCCCTGGCCCGGATCCGAAG	0.483																																																	0													120	127	125					2																	98804579		1979	4160	6139	SO:0001583	missense	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1453C>T	2.37:g.98804579C>T	ENSP00000417955:p.Arg485Trp		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R485W	ENST00000477737.1	37	c.1453	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994140	0.19043	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.24350	1.86;3.31;2.43	4.76	1.58	0.23477	.	1.441420	0.04443	N	0.371259	T	0.20659	0.0497	N	0.08118	0	0.09310	N	0.999998	P;P;D	0.59767	0.901;0.882;0.986	B;B;P	0.50231	0.252;0.253;0.635	T	0.25572	-1.0128	10	0.38643	T	0.18	.	7.7432	0.28853	0.3066:0.6111:0.0:0.0823	.	335;485;485	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	W	485;485;335	ENSP00000401959:R485W;ENSP00000417955:R485W;ENSP00000389463:R335W	ENSP00000388158:R485W	R	+	1	2	VWA3B	98171011	0.091000	0.21658	0.118000	0.21660	0.407000	0.30961	1.324000	0.33712	0.042000	0.15717	0.460000	0.39030	CGG	VWA3B	-	NULL	ENSG00000168658		0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	-	0	159	0	C	NM_144992		98804579	1	tier1	rs200956872	no_errors	ENST00000477737	ensembl	human	known	74_37	missense	36.25	102	58	SNP	0.364	T	T	98804579	C	T	98804579	3	4	58	1	0	0	0	0	1	0	0	0	17290	643	23	1	1487	1	VWA3B	2	98804579	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	452794	98804579	144394794	342	14725											
INPP4A	3631	genome.wustl.edu	37	chr2	99181151	99181151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagctgaggaactgcctgCatgacgacggcttcctgcgc	8	9	12	12	3	0	2	0	2	0	0	1	4	1	3	2	2	5	3	2	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:99181151C>T	ENST00000523221.1	+	18	2092	c.2092C>T	c.(2092-2094)Cat>Tat	p.H698Y	INPP4A_ENST00000545415.1_Missense_Mutation_p.H659Y|INPP4A_ENST00000409851.3_Missense_Mutation_p.H693Y|INPP4A_ENST00000409540.3_Missense_Mutation_p.H659Y|INPP4A_ENST00000409016.4_Missense_Mutation_p.H659Y|INPP4A_ENST00000074304.5_Missense_Mutation_p.H698Y|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	698					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAACTGCCTGCATGACGACGG	0.632																																																	0													33	37	36					2																	99181151		2112	4207	6319	SO:0001583	missense	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2092C>T	2.37:g.99181151C>T	ENSP00000427722:p.His698Tyr		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_dom	p.H698Y	ENST00000523221.1	37	c.2092	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959829	0.34565	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	4.94	4.94	0.65067	.	0.165039	0.56097	D	0.000039	T	0.13500	0.0327	N	0.21282	0.65	0.43351	D	0.995419	P;P;P;P	0.47106	0.826;0.868;0.89;0.89	B;B;B;B	0.43508	0.187;0.259;0.422;0.422	T	0.06862	-1.0803	10	0.09084	T	0.74	-18.9361	17.3305	0.87262	0.0:1.0:0.0:0.0	.	659;659;698;693	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	Y	659;693;698;659;659;698	ENSP00000386704:H659Y;ENSP00000386777:H693Y;ENSP00000074304:H698Y;ENSP00000442149:H659Y;ENSP00000387294:H659Y;ENSP00000427722:H698Y	ENSP00000074304:H698Y	H	+	1	0	INPP4A	98547583	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.933000	0.48948	2.577000	0.86979	0.563000	0.77884	CAT	INPP4A	-	NULL	ENSG00000040933		0.632	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	-	0	59	0	C	NM_001566		99181151	1	tier1	-	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	37.84	23	14	SNP	1.000	T	T	99181151	C	T	99181151	3	4	58	1	0	0	0	0	1	0	0	0	7779	710	25	3	2162	3	INPP4A	2	99181151	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	376572	99181151	144018222	343	14726											
IL1RL2	8808	genome.wustl.edu	37	chr2	102851427	102851427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgtggtccccgaatcGctgggctttggcctgttgaa	5	13	13	10	2	1	1	1	1	0	0	3	2	2	1	3	3	0	3	3	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:102851427G>A	ENST00000264257.2	+	11	1494	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	IL1RL2_ENST00000441515.2_Silent_p.S338S|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.S456S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	456	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCCCGAATCGCTGGGCTTTG	0.493																																																	0													102	101	101					2																	102851427		2203	4300	6503	SO:0001819	synonymous_variant	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1368G>A	2.37:g.102851427G>A			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.S456	ENST00000264257.2	37	c.1368	CCDS2056.1	2																																																																																			IL1RL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000115598		0.493	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	-	0	70	0	G	NM_003854		102851427	1	tier1	-	no_errors	ENST00000264257	ensembl	human	known	74_37	silent	30.86	56	25	SNP	0.000	A	A	102851427	G	A	102851427	2	1	58	1	0	0	0	0	0	0	0	1	7691	1074	38	1		1	IL1RL2	2	102851427	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3670276	102851427	140347946	344	14727											
IL1RL1	9173	genome.wustl.edu	37	chr2	102956601	102956601	+	Frame_Shift_Del	DEL	A	A	-																															atgcgaatgtcaccatatatAaaaaacaatcagattgcaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:102956601delA	ENST00000233954.1	+	4	587	c.316delA	c.(316-318)aaafs	p.K107fs	IL1RL1_ENST00000311734.2_Frame_Shift_Del_p.K107fs|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000393393.3_Frame_Shift_Del_p.K107fs|IL1RL1_ENST00000409584.1_Frame_Shift_Del_p.K107fs|IL1RL1_ENST00000473175.1_3'UTR	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	107					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CACCATATATAAAAAACAATC	0.308																																																	0													66	64	65					2																	102956601		2203	4299	6502	SO:0001589	frameshift_variant	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5998	protein-coding gene	gene with protein product	"homolog of mouse growth stimulation-expressed"	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.316delA	2.37:g.102956601delA	ENSP00000233954:p.Lys107fs		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Frame_Shift_Del	DEL	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom	p.K107fs	ENST00000233954.1	37	c.316	CCDS2057.1	2																																																																																			IL1RL1	-	NULL	ENSG00000115602		0.308	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1		0	25	0	A	NM_016232		102956601	1	tier1		no_errors	ENST00000233954	ensembl	human	known	74_37	frame_shift_del	25.71	26	9	DEL	0.010	-	-	102956601	A	-	102956601	7	5	58	1	0	1	0	1	0	0	0	0	7690	363	13	0	326	0	IL1RL1	2	102956601	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	105174	102956601	140242772	345	14728											
SLC9A2	6549	genome.wustl.edu	37	chr2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-																															tggccgagatatgcccagcaCccccccaacaccccacagca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:103324746delC	ENST00000233969.2	+	12	2379	c.2237delC	c.(2236-2238)accfs	p.T746fs		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	746					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATGCCCAGCACCCCCCCAACA	0.527																																																	0													140	151	147					2																	103324746		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2237delC	2.37:g.103324746delC	ENSP00000233969:p.Thr746fs		B2RMS2	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P748fs	ENST00000233969.2	37	c.2237	CCDS2062.1	2																																																																																			SLC9A2	-	prints_Na/H_exchanger_2	ENSG00000115616		0.527	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2		0	42	0	C			103324746	1	tier1		no_errors	ENST00000233969	ensembl	human	known	74_37	frame_shift_del	25.53	35	12	DEL	0.000	-	-	103324746	C	-	103324746	7	5	58	1	0	1	0	1	0	0	0	0	14757	507	18	0	2283	0	SLC9A2	2	103324746	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	368145	103324746	139874627	346	14729											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107459563	107459563	+	Frame_Shift_Del	DEL	G	G	-																															agcgcagctgcgcaggccgcGggggtgcagctggctcaggg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:107459563delG	ENST00000409382.3	-	2	1481	c.871delC	c.(871-873)cgcfs	p.R291fs	ST6GAL2_ENST00000361686.4_Frame_Shift_Del_p.R291fs|ST6GAL2_ENST00000409087.3_Frame_Shift_Del_p.R291fs|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	291					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.R291C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCAGGCCGCGGGGGTGCAGC	0.716																																																	1	Substitution - Missense(1)	ovary(1)											7	8	8					2																	107459563		1687	3582	5269	SO:0001589	frameshift_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.871delC	2.37:g.107459563delG	ENSP00000386942:p.Arg291fs		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Frame_Shift_Del	DEL	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.R291fs	ENST00000409382.3	37	c.871	CCDS2073.1	2																																																																																			ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.716	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0	30	0	G	NM_032528		107459563	-1	tier1		no_errors	ENST00000361686	ensembl	human	known	74_37	frame_shift_del	38.89	11	7	DEL	0.371	-	-	107459563	G	-	107459563	7	5	58	1	0	1	0	1	0	0	0	0	15269	1116	39	0	825	0	ST6GAL2	2	107459563	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	4134817	107459563	135739810	347	14730											
RANBP2	5903	genome.wustl.edu	37	chr2	109368085	109368085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcctgccccttcctgtGtgtaaacagctttgtacaga	8	14	8	11	0	0	1	0	0	0	1	1	1	1	1	4	0	5	3	4	0	4	5	rs559137643		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:109368085G>A	ENST00000283195.6	+	11	1683	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	519					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V519V(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCCTTCCTGTGTGTAAACAGC	0.393													G|||	1	0.000199681	0	0	5008	,	,		17767	0		0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	kidney(2)											29	33	32					2																	109368085		1041	2139	3180	SO:0001819	synonymous_variant	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1557G>A	2.37:g.109368085G>A			Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.V519	ENST00000283195.6	37	c.1557	CCDS2079.1	2																																																																																			RANBP2	-	NULL	ENSG00000153201		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1		0	92	0	G	NM_006267		109368085	1			no_errors	ENST00000283195	ensembl	human	known	74_37	silent	12.50	98	14	SNP	0.942	A	A	109368085	G	A	109368085	2	1	58	1	0	0	0	0	0	0	0	1	13073	1364	48	3		3	RANBP2	2	109368085	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1908522	109368085	133831288	348	14731											
RANBP2	5903	genome.wustl.edu	37	chr2	109371641	109371641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttagtattctcccAaaacaccacctcgatgggca	10	15	5	11	1	1	0	0	0	1	0	3	1	1	0	3	1	1	2	3	1	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:109371641A>G	ENST00000283195.6	+	17	2518	c.2392A>G	c.(2392-2394)Aaa>Gaa	p.K798E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	798					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTATTCTCCCAAAACACCACC	0.323																																																	0													120	142	134					2																	109371641		2188	4295	6483	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2392A>G	2.37:g.109371641A>G	ENSP00000283195:p.Lys798Glu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.K798E	ENST00000283195.6	37	c.2392	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	a	17.70	3.455319	0.63401	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.30182	1.54	5.8	5.8	0.92144	.	.	.	.	.	T	0.27489	0.0675	N	0.20986	0.625	0.31506	N	0.664222	P	0.45348	0.856	B	0.43754	0.43	T	0.16247	-1.0409	9	0.39692	T	0.17	-12.6019	16.1496	0.81605	1.0:0.0:0.0:0.0	.	798	P49792	RBP2_HUMAN	E	798	ENSP00000283195:K798E	ENSP00000283195:K798E	K	+	1	0	RANBP2	108738073	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.048000	0.89442	2.210000	0.71456	0.443000	0.29094	AAA	RANBP2	-	NULL	ENSG00000153201		0.323	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0	273	0	A	NM_006267		109371641	1	tier1	-	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	9.95	344	38	SNP	1.000	G	G	109371641	A	G	109371641	3	3	58	1	0	0	0	0	1	0	0	0	13073	131	5	4	2458	4	RANBP2	2	109371641	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	3556	109371641	133827732	349	14732											
NPHP1	4867	genome.wustl.edu	37	chr2	110881594	110881594	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtgggagcacgcagTcatggtaaaccaggagaaac	15	4	15	7	1	1	2	1	0	0	2	1	5	1	3	1	4	3	3	1	4	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:110881594T>C	ENST00000393272.3	-	20	2070	c.1973A>G	c.(1972-1974)gAc>gGc	p.D658G	NPHP1_ENST00000445609.2_Missense_Mutation_p.D603G|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000355301.4_Missense_Mutation_p.D540G|NPHP1_ENST00000417665.1_Missense_Mutation_p.D637G|NPHP1_ENST00000316534.4_Missense_Mutation_p.D659G	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	658					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAGCACGCAGTCATGGTAAAC	0.468																																																	0													111	115	113					2																	110881594		2203	4300	6503	SO:0001583	missense	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"nephrocystin-1"	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1973A>G	2.37:g.110881594T>C	ENSP00000376953:p.Asp658Gly		O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D659G	ENST00000393272.3	37	c.1976	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378521	0.42207	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.63417	0.07;0.08;0.07;0.08;-0.04	5.5	5.5	0.81552	.	0.325178	0.32258	N	0.006359	T	0.74673	0.3747	M	0.61703	1.905	0.80722	D	1	B;B;D;B;D	0.69078	0.053;0.033;0.985;0.088;0.997	B;B;P;B;D	0.66979	0.021;0.034;0.783;0.047;0.948	T	0.74390	-0.3681	10	0.39692	T	0.17	-16.232	14.4178	0.67163	0.0:0.0:0.0:1.0	.	602;540;658;603;659	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	G	659;603;658;540;637	ENSP00000313169:D659G;ENSP00000389879:D603G;ENSP00000376953:D658G;ENSP00000347452:D540G;ENSP00000402176:D637G	ENSP00000313169:D659G	D	-	2	0	NPHP1	110238883	0.997000	0.39634	0.920000	0.36463	0.882000	0.50991	5.458000	0.66679	2.086000	0.62901	0.379000	0.24179	GAC	NPHP1	-	NULL	ENSG00000144061		0.468	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	-	0	77	0	T	NM_000272		110881594	-1	tier1	-	no_errors	ENST00000316534	ensembl	human	known	74_37	missense	14.29	72	12	SNP	0.911	C	C	110881594	T	C	110881594	3	2	58	1	0	0	0	0	1	0	0	0	10618	1667	58	4	229	4	NPHP1	2	110881594	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1509953	110881594	132317779	350	14733											
ANAPC1	64682	genome.wustl.edu	37	chr2	112614257	112614258	+	Splice_Site	INS	-	-	T																															ccagcatggtgtctattttcINStaaaaaaacaaaaaagacaa																								rs4067742		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1450-1->A	2.37:g.112614258_112614258dupT			Q2M3H8|Q9BSE6|Q9H8D0	Splice_Site	INS	-	e12-1	ENST00000341068.3	37	c.1450-2_1450-1	CCDS2093.1	2																																																																																			ANAPC1	-	-	ENSG00000153107		0.361	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0	111	0	0	NM_022662	Intron	112614258	-1			no_errors	ENST00000341068	ensembl	human	known	74_37	splice_site_ins	6.71	153	11	INS	0.994:0.992	T	T	112614258	-	T	112614257	8	5	58	1	0	1	1	0	0	0	1	0	598	927	32	0	4529	0	ANAPC1	2	112614257	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1732663	112614257	130585116	351	14734											
TMEM87B	84910	genome.wustl.edu	37	chr2	112824589	112824590	+	Frame_Shift_Ins	INS	-	-	A																															aatgacaactgttggacaacINSaaaaaatgaaaacttagatt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:112824589_112824590insA	ENST00000283206.4	+	4	764_765	c.395_396insA	c.(394-399)acaaaafs	p.TK132fs		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	132						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGTTGGACAACAAAAAATGAAA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.401dupA	2.37:g.112824595_112824595dupA	ENSP00000283206:p.Thr132fs		A8K2M9|Q1RLN2|Q53R54	Frame_Shift_Ins	INS	pfam_TM_rcpt_euk	p.N134fs	ENST00000283206.4	37	c.395_396	CCDS33275.1	2																																																																																			TMEM87B	-	NULL	ENSG00000153214		0.322	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1		0	57	0	0	NM_032824		112824590	1			no_errors	ENST00000283206	ensembl	human	known	74_37	frame_shift_ins	11.48	54	7	INS	1.000:1.000	A	A	112824590	-	A	112824589	7	5	58	1	0	1	1	0	0	0	0	0	16258	478	17	0	409	0	TMEM87B	2	112824589	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	210332	112824589	130374784	352	14735											
ZC3H6	376940	genome.wustl.edu	37	chr2	113067570	113067570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacagtgatgacaacttcGgtaactacagtgatgacaac	14	9	8	10	1	0	4	0	4	0	0	1	4	0	4	1	1	5	1	1	1	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:113067570G>T	ENST00000409871.1	+	4	846	c.445G>T	c.(445-447)Ggt>Tgt	p.G149C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G149C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	149							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGACAACTTCGGTAACTACAG	0.363																																																	0													77	70	72					2																	113067570		1873	4110	5983	SO:0001583	missense	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"Zinc fingers, CCCH-type domain containing"	24762	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 6"	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.445G>T	2.37:g.113067570G>T	ENSP00000386764:p.Gly149Cys		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G149C	ENST00000409871.1	37	c.445	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901084	0.72754	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15372	2.43;2.43	5.86	5.86	0.93980	.	0.368929	0.29383	N	0.012306	T	0.11836	0.0288	N	0.08118	0	0.50467	D	0.999878	B	0.28820	0.224	B	0.27715	0.082	T	0.16453	-1.0402	10	0.56958	D	0.05	-13.8078	18.3634	0.90383	0.0:0.0:1.0:0.0	.	149	P61129	ZC3H6_HUMAN	C	149;149;126	ENSP00000386764:G149C;ENSP00000340298:G149C	ENSP00000340298:G149C	G	+	1	0	ZC3H6	112784041	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	7.727000	0.84838	2.767000	0.95098	0.561000	0.74099	GGT	ZC3H6	-	NULL	ENSG00000188177		0.363	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1		0	37	0	G	NM_198581		113067570	1			no_errors	ENST00000343936	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.999	T	T	113067570	G	T	113067570	3	4	58	1	0	0	0	0	1	0	0	0	17619	1116	39	2	459	2	ZC3H6	2	113067570	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	242981	113067570	130131803	353	14736											
IL1F9	56300	genome.wustl.edu	37	chr2	113737642	113737643	+	Frame_Shift_Ins	INS	-	-	A																															tcttgagcaaggcagaggggINSatcccatttatttgggaatc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:113737642_113737643insA	ENST00000259205.4	+	4	286_287	c.217_218insA	c.(217-219)gatfs	p.D73fs	IL36G_ENST00000376489.2_Frame_Shift_Ins_p.D38fs	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	73					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AGGCAGAGGGGATCCCATTTAT	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"Interleukins and interleukin receptors"	15741	protein-coding gene	gene with protein product	"interleukin-1 homolog 1", "interleukin 1-related protein 2", "interleukin-1 epsilon"	605542	"interleukin 1 family, member 9"	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.218dupA	2.37:g.113737643_113737643dupA	ENSP00000259205:p.Asp73fs		Q56B91|Q6UVX7|Q7RTZ9	Frame_Shift_Ins	INS	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.D73fs	ENST00000259205.4	37	c.217_218	CCDS2108.1	2																																																																																			IL36G	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1	ENSG00000136688		0.416	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36G	HGNC	protein_coding	OTTHUMT00000330713.2		0	32	0	-	NM_019618		113737643	1	tier1		no_errors	ENST00000259205	ensembl	human	known	74_37	frame_shift_ins	37.04	17	10	INS	0.000:0.000	A	A	113737643	-	A	113737642	7	5	58	1	0	1	1	0	0	0	0	0	7684	1174	41	0	227	0	IL1F9	2	113737642	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	670072	113737642	129461731	354	14737											
PSD4	23550	genome.wustl.edu	37	chr2	113955413	113955413	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactcgctggccaccccCgccacgcattacaccaagaa	11	4	6	20	3	0	1	0	0	0	1	1	1	0	1	6	1	1	2	6	1	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:113955413C>T	ENST00000245796.6	+	14	2742	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P	PSD4_ENST00000441564.3_Silent_p.P820P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	849	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCCACCCCCGCCACGCATT	0.647																																																	0													32	33	32					2																	113955413		2203	4300	6503	SO:0001819	synonymous_variant	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2547C>T	2.37:g.113955413C>T			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.P849	ENST00000245796.6	37	c.2547	CCDS33276.1	2																																																																																			PSD4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	ENSG00000125637		0.647	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0	38	0	C	NM_012455		113955413	1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.017	T	T	113955413	C	T	113955413	2	4	58	1	0	0	0	0	0	0	0	1	12691	639	23	1		1	PSD4	2	113955413	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	217771	113955413	129243960	355	14738											
CLASP1	23332	genome.wustl.edu	37	chr2	122135110	122135110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgccatctcgtttaattgGctcattcagatcttcttggc	6	18	7	10	1	5	1	2	0	3	1	6	1	5	1	1	2	1	2	1	2	1	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:122135110G>A	ENST00000263710.4	-	34	3996	c.3607C>T	c.(3607-3609)Cca>Tca	p.P1203S	CLASP1_ENST00000545861.1_Missense_Mutation_p.P910S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P920S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P1143S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P1142S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P1159S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P1136S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1203					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CGTTTAATTGGCTCATTCAGA	0.368																																																	0													176	148	157					2																	122135110		1849	4099	5948	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3607C>T	2.37:g.122135110G>A	ENSP00000263710:p.Pro1203Ser		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P1203S	ENST00000263710.4	37	c.3607		2	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417931	0.62622	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.45668	2.15;2.21;2.19;2.2;0.89;2.2	5.83	4.96	0.65561	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.69078	0.996;0.996;0.993;0.997	P;P;P;D	0.65684	0.874;0.895;0.787;0.937	T	0.59794	-0.7387	10	0.30078	T	0.28	-3.5197	14.9072	0.70730	0.0683:0.0:0.9317:0.0	.	1136;1143;1144;1203	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	S	1203;1159;1143;1142;920;1136;910	ENSP00000263710:P1203S;ENSP00000389372:P1159S;ENSP00000380717:P1143S;ENSP00000441625:P1142S;ENSP00000441770:P920S;ENSP00000386442:P1136S	ENSP00000263710:P1203S	P	-	1	0	CLASP1	121851580	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.004000	0.88535	1.489000	0.48450	-0.136000	0.14681	CCA	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.368	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0	51	0	G	NM_015282		122135110	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	34.04	31	16	SNP	1.000	A	A	122135110	G	A	122135110	3	1	58	1	0	0	0	0	1	0	0	0	3461	1203	42	3	1037	3	CLASP1	2	122135110	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8179697	122135110	121064263	356	14739											
CLASP1	23332	genome.wustl.edu	37	chr2	122208519	122208519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattcttgcttcggaatcaGcatcatgtattcccttcttt	7	18	5	11	1	4	0	2	0	2	0	6	1	5	1	1	1	2	3	1	1	3	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:122208519G>T	ENST00000263710.4	-	16	1882	c.1493C>A	c.(1492-1494)gCt>gAt	p.A498D	CLASP1_ENST00000545861.1_Missense_Mutation_p.A266D|CLASP1_ENST00000541859.1_Missense_Mutation_p.A267D|CLASP1_ENST00000397587.3_Missense_Mutation_p.A498D|CLASP1_ENST00000541377.1_Missense_Mutation_p.A498D|CLASP1_ENST00000455322.2_Missense_Mutation_p.A498D|CLASP1_ENST00000409078.3_Missense_Mutation_p.A498D	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	498					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTCGGAATCAGCATCATGTAT	0.303																																																	0													231	215	220					2																	122208519		1842	4092	5934	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1493C>A	2.37:g.122208519G>T	ENSP00000263710:p.Ala498Asp		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A498D	ENST00000263710.4	37	c.1493		2	.	.	.	.	.	.	.	.	.	.	G	33	5.263666	0.95399	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (2);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.88181	2.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.83962	0.0322	10	0.87932	D	0	.	20.1386	0.98045	0.0:0.0:1.0:0.0	.	498;498;498;498	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	D	498;498;498;498;267;498;266	ENSP00000263710:A498D;ENSP00000389372:A498D;ENSP00000380717:A498D;ENSP00000441625:A498D;ENSP00000441770:A267D;ENSP00000386442:A498D;ENSP00000438620:A266D	ENSP00000263710:A498D	A	-	2	0	CLASP1	121924989	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	9.869000	0.99810	2.767000	0.95098	0.561000	0.74099	GCT	CLASP1	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000074054		0.303	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0	60	0	G	NM_015282		122208519	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T	T	122208519	G	T	122208519	3	4	58	1	0	0	0	0	1	0	0	0	3461	971	34	3	3275	3	CLASP1	2	122208519	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	73409	122208519	120990854	357	14740											
RAB6C	84084	genome.wustl.edu	37	chr2	130738037	130738037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtcagaacagaaagaggaAgtgatgttatcatcacgcta	16	9	10	6	1	3	4	3	1	0	3	3	5	3	5	0	1	1	2	0	1	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:130738037A>G	ENST00000410061.2	+	1	803	c.349A>G	c.(349-351)Agt>Ggt	p.S117G	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	117	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGAAAGAGGAAGTGATGTTAT	0.428																																																	0													260	260	260					2																	130738037		2203	4300	6503	SO:0001583	missense	0			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"RAB, member RAS oncogene"	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.349A>G	2.37:g.130738037A>G	ENSP00000387307:p.Ser117Gly		Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S117G	ENST00000410061.2	37	c.349	CCDS46408.1	2	.	.	.	.	.	.	.	.	.	.	.	7.362	0.624991	0.14257	.	.	ENSG00000222014	ENST00000410061	T	0.77489	-1.1	.	.	.	Small GTP-binding protein domain (1);	.	.	.	.	T	0.57242	0.2040	N	0.17901	0.54	0.41923	D	0.990528	B	0.14012	0.009	B	0.10450	0.005	T	0.30031	-0.9992	8	0.45353	T	0.12	-3.7616	3.8038	0.08768	0.6717:0.0:0.3283:0.0	.	117	Q9H0N0	RAB6C_HUMAN	G	117	ENSP00000387307:S117G	ENSP00000387307:S117G	S	+	1	0	RAB6C	130454507	1.000000	0.71417	0.094000	0.20943	0.395000	0.30598	5.895000	0.69814	-0.482000	0.06782	0.092000	0.15492	AGT	RAB6C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000222014		0.428	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	-	0	127	0	A	NM_032144		130738037	1	tier1	-	no_errors	ENST00000410061	ensembl	human	known	74_37	missense	5.66	100	6	SNP	1.000	G	G	130738037	A	G	130738037	3	3	58	1	0	0	0	0	1	0	0	0	12998	72	3	4	351	4	RAB6C	2	130738037	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	8529518	130738037	112461336	358	14741											
POTEF	728378	genome.wustl.edu	37	chr2	130868115	130868115	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttaatgtaaacacttaCacatgatgatgactagaaac	16	12	5	8	0	0	4	0	3	0	1	0	4	0	4	1	0	3	1	1	0	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:130868115C>T	ENST00000409914.2	-	7	1455		c.e7+1		AC018804.3_ENST00000433507.1_RNA|RNU6-1049P_ENST00000516414.1_RNA|POTEF_ENST00000357462.5_Splice_Site|POTEF_ENST00000361163.4_Splice_Site|POTEF_ENST00000360967.5_Splice_Site	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F						retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAAACACTTACACATGATGAT	0.358																																																	0													17	18	17					2																	130868115		1797	3739	5536	SO:0001630	splice_region_variant	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33905	protein-coding gene	gene with protein product			"ANKRD26-like family C, member 1B"	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.1055+1G>A	2.37:g.130868115C>T			A6NC34	Splice_Site	SNP	-	e5+1	ENST00000409914.2	37	c.1055+1	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	5.474	0.272511	0.10349	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	.	.	.	0.887	0.887	0.19200	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1522	0.15015	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POTEF	130584585	0.115000	0.22152	0.271000	0.24616	0.162000	0.22319	2.158000	0.42329	0.782000	0.33613	0.162000	0.16502	.	POTEF	-	-	ENSG00000196604		0.358	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	-	0	34	0	C	NM_001099771	Intron	130868115	-1	tier1	-	no_errors	ENST00000357462	ensembl	human	known	74_37	splice_site	34.38	21	11	SNP	0.407	T	T	130868115	C	T	130868115	5	4	58	1	0	0	0	0	0	0	1	0	12304	492	17	3	2215	3	POTEF	2	130868115	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	130078	130868115	112331258	359	14742											
FAM123C	205147	genome.wustl.edu	37	chr2	131520251	131520251	+	Frame_Shift_Del	DEL	C	C	-																															cggcgaagcaaagccttcctCcccccgggtgaggggccggg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:131520251delC	ENST00000423981.1	+	2	716	c.606delC	c.(604-606)ctcfs	p.L202fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.L202fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	202					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AAGCCTTCCTCCCCCCGGGTG	0.692																																																	0													24	30	27					2																	131520251		2196	4288	6484	SO:0001589	frameshift_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.606delC	2.37:g.131520251delC	ENSP00000392700:p.Leu202fs		B7ZLH6	Frame_Shift_Del	DEL	pfam_Uncharacterised_FAM123	p.P204fs	ENST00000423981.1	37	c.606	CCDS2164.1	2																																																																																			AMER3	-	NULL	ENSG00000178171		0.692	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3		0	29	0	C	NM_152698		131520251	1	tier1		no_errors	ENST00000321420	ensembl	human	known	74_37	frame_shift_del	37.50	15	9	DEL	0.000	-	-	131520251	C	-	131520251	7	5	58	1	0	1	0	1	0	0	0	0	5443	842	30	0	608	0	FAM123C	2	131520251	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	652136	131520251	111679122	360	14743											
POTEE	445582	genome.wustl.edu	37	chr2	131981607	131981607	+	Frame_Shift_Del	DEL	A	A	-																															tatggtgctgatatcgaatcAaaaaacaaggtatagatcta																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:131981607delA	ENST00000356920.5	+	3	895	c.801delA	c.(799-801)tcafs	p.S267fs	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Del_p.S277fs|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	267					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATATCGAATCAAAAAACAAGG	0.353																																																	0													1	1	1					2																	131981607		908	1925	2833	SO:0001589	frameshift_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.801delA	2.37:g.131981607delA	ENSP00000439189:p.Ser267fs		Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Del	DEL	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.N269fs	ENST00000356920.5	37	c.801	CCDS46414.1	2																																																																																			POTEE	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000188219		0.353	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding			0	43	0	A	NM_001083538		131981607	1			no_errors	ENST00000356920	ensembl	human	known	74_37	frame_shift_del	31.25	22	10	DEL	0.968	0	-	131981607	A	-	131981607	7	5	58	1	0	1	0	1	0	0	0	0	12303	117	5	0	811	0	POTEE	2	131981607	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	461356	131981607	111217766	361	14744											
POTEE	445582	genome.wustl.edu	37	chr2	131985955	131985955	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctagtcatcatcatgtGtaagtgtttacattaaaagg	12	16	8	5	0	4	0	3	0	1	0	4	0	4	0	0	1	1	3	0	1	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:131985955G>A	ENST00000356920.5	+	5	1149		c.e5+1		RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Splice_Site|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E						retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATCATCATGTGTAAGTGTTTA	0.358																																																	0													4	5	5					2																	131985955		1323	2991	4314	SO:0001630	splice_region_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1055+1G>A	2.37:g.131985955G>A			Q6S8J4|Q6S8J5|Q6S8J8	Splice_Site	SNP	-	e5+1	ENST00000356920.5	37	c.1055+1	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	g	7.427	0.637871	0.14386	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	.	.	.	0.887	0.887	0.19200	.	.	.	.	.	.	.	.	.	.	.	0.34549	D	0.711125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1522	0.15015	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC131180.1	131702425	0.870000	0.30015	0.268000	0.24571	0.248000	0.25809	3.200000	0.51051	0.782000	0.33613	0.162000	0.16502	.	POTEE	-	-	ENSG00000188219		0.358	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0	173	0	G	NM_001083538	Intron	131985955	1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	splice_site	18.92	150	35	SNP	0.405	A	A	131985955	G	A	131985955	5	1	58	1	0	0	0	0	0	0	1	0	12303	1391	48	3	1074	3	POTEE	2	131985955	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4348	131985955	111213418	362	14745											
POTEE	445582	genome.wustl.edu	37	chr2	132021787	132021787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagaagctgtgctatgttgCcctggacttcgagcaggaga	10	9	14	8	1	0	2	0	0	0	2	1	6	0	3	1	2	4	4	1	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:132021787C>A	ENST00000356920.5	+	15	2853	c.2759C>A	c.(2758-2760)gCc>gAc	p.A920D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	920	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGCTATGTTGCCCTGGACTTC	0.587																																																	0													100	110	106					2																	132021787		2201	4295	6496	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2759C>A	2.37:g.132021787C>A	ENSP00000439189:p.Ala920Asp		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.A920D	ENST00000356920.5	37	c.2759	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	17.77	3.471947	0.63737	.	.	ENSG00000188219	ENST00000356920	D	0.94723	-3.5	.	.	.	.	.	.	.	.	D	0.98213	0.9409	H	0.99838	4.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95031	0.8169	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	920	Q6S8J3	POTEE_HUMAN	D	920	ENSP00000439189:A920D	ENSP00000439189:A920D	A	+	2	0	AC131180.1	131738257	1.000000	0.71417	0.499000	0.27577	0.503000	0.33858	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	GCC	POTEE	-	pfam_Actin-related,smart_Actin-related	ENSG00000188219		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0	215	0	C	NM_001083538		132021787	1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	11.86	171	23	SNP	1.000	A	A	132021787	C	A	132021787	3	1	58	1	0	0	0	0	1	0	0	0	12303	739	26	3	2817	3	POTEE	2	132021787	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	35832	132021787	111177586	363	14746											
ZRANB3	84083	genome.wustl.edu	37	chr2	135982051	135982051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacagaacattaaggtgTcatacactggcaaagtgtct	13	11	9	8	0	2	1	1	0	1	1	2	1	2	1	0	2	3	2	0	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:135982051T>C	ENST00000264159.6	-	15	2311	c.2195A>G	c.(2194-2196)gAc>gGc	p.D732G	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.D730G|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D730G	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	732					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CATTAAGGTGTCATACACTGG	0.363																																																	0													89	84	85					2																	135982051		1866	4097	5963	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2195A>G	2.37:g.135982051T>C	ENSP00000264159:p.Asp732Gly		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D732G	ENST00000264159.6	37	c.2195	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308518	0.40895	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91237	-2.81;-2.81;-2.8	5.62	3.26	0.37387	.	0.320112	0.34777	N	0.003691	D	0.87489	0.6190	M	0.68952	2.095	0.27488	N	0.952373	B;B	0.15930	0.009;0.015	B;B	0.18871	0.01;0.023	T	0.80327	-0.1429	10	0.87932	D	0	-15.5137	6.3314	0.21272	0.0:0.1426:0.1337:0.7237	.	732;730	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	G	195;195;730;732;730	ENSP00000383979:D730G;ENSP00000264159:D732G;ENSP00000441320:D730G	ENSP00000264159:D732G	D	-	2	0	ZRANB3	135698521	0.957000	0.32711	0.464000	0.27143	0.954000	0.61252	2.353000	0.44089	0.431000	0.26258	-0.250000	0.11733	GAC	ZRANB3	-	NULL	ENSG00000121988		0.363	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	-	0	63	0	T	NM_032143		135982051	-1	tier1	-	no_errors	ENST00000264159	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.875	C	C	135982051	T	C	135982051	3	2	58	1	0	0	0	0	1	0	0	0	18272	1667	58	4	1072	4	ZRANB3	2	135982051	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3960264	135982051	107217322	364	14747											
UBXN4	23190	genome.wustl.edu	37	chr2	136528170	136528170	+	Frame_Shift_Del	DEL	A	A	-																															aagaaggaaattgagaggagAaaaactggaaaagaaatgtt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:136528170delA	ENST00000272638.9	+	8	998	c.687delA	c.(685-687)agafs	p.R229fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	229					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGAGAGGAGAAAAACTGGAA	0.313																																																	0													55	51	52					2																	136528170		1790	4065	5855	SO:0001589	frameshift_variant	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"UBX domain containing"	14860	protein-coding gene	gene with protein product	"erasin"	611216	"UBX domain-containing 2", "UBX domain containing 2"	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.687delA	2.37:g.136528170delA	ENSP00000272638:p.Arg229fs		A8K9W4|Q4ZG56|Q8IYM5	Frame_Shift_Del	DEL	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.T231fs	ENST00000272638.9	37	c.687	CCDS42761.1	2																																																																																			UBXN4	-	NULL	ENSG00000144224		0.313	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1		0	26	0	A	NM_014607		136528170	1	tier1		no_errors	ENST00000272638	ensembl	human	known	74_37	frame_shift_del	35.14	24	13	DEL	0.997	-	-	136528170	A	-	136528170	7	5	58	1	0	1	0	1	0	0	0	0	16965	243	9	0	717	0	UBXN4	2	136528170	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	546119	136528170	106671203	365	14748											
LRP1B	53353	genome.wustl.edu	37	chr2	141201960	141201960	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattacatcttaagtttacTgggatacatttctggttctt	9	18	6	8	0	3	0	0	0	3	0	3	1	3	1	1	2	3	2	1	2	4	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:141201960T>C	ENST00000389484.3	-	65	11204	c.10233A>G	c.(10231-10233)ccA>ccG	p.P3411P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3411	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAAGTTTACTGGGATACATT	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													204	189	194					2																	141201960		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10233A>G	2.37:g.141201960T>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P3411	ENST00000389484.3	37	c.10233	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	64	0	T	NM_018557		141201960	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	33.77	51	26	SNP	0.010	C	C	141201960	T	C	141201960	2	2	58	1	0	0	0	0	0	0	0	1	8990	1567	55	4		4	LRP1B	2	141201960	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	4673790	141201960	101997413	366	14749											
LRP1B	53353	genome.wustl.edu	37	chr2	141259309	141259309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacatccactgactttctTactcaaacattcatttatat	14	15	2	10	0	3	2	2	1	1	1	4	2	4	2	1	0	3	0	1	0	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:141259309T>C	ENST00000389484.3	-	55	9768	c.8797A>G	c.(8797-8799)Aag>Gag	p.K2933E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2933	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGACTTTCTTACTCAAACAT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													120	123	122					2																	141259309		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8797A>G	2.37:g.141259309T>C	ENSP00000374135:p.Lys2933Glu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K2933E	ENST00000389484.3	37	c.8797	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118901	0.37436	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87256	-2.23	5.71	4.52	0.55395	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.167425	0.39475	U	0.001350	T	0.67859	0.2938	N	0.03608	-0.345	0.28059	N	0.93307	B	0.27853	0.191	B	0.23852	0.049	T	0.56372	-0.7990	10	0.02654	T	1	.	12.7896	0.57526	0.0:0.0:0.137:0.863	.	2933	Q9NZR2	LRP1B_HUMAN	E	2933;2871	ENSP00000374135:K2933E	ENSP00000374135:K2933E	K	-	1	0	LRP1B	140975779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.806000	0.47947	0.963000	0.38082	0.477000	0.44152	AAG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000168702		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	57	0	T	NM_018557		141259309	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	C	C	141259309	T	C	141259309	3	2	58	1	0	0	0	0	1	0	0	0	8990	1763	61	4	5150	4	LRP1B	2	141259309	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	57349	141259309	101940064	367	14750											
LRP1B	53353	genome.wustl.edu	37	chr2	141946015	141946015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattggatctactgctattgCtttaggattgtgaagctcca	9	16	9	7	0	1	1	0	1	1	0	2	3	2	3	1	2	4	3	1	2	5	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:141946015C>T	ENST00000389484.3	-	7	1959	c.988G>A	c.(988-990)Gca>Aca	p.A330T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	330					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGCTATTGCTTTAGGATTG	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													92	87	89					2																	141946015		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.988G>A	2.37:g.141946015C>T	ENSP00000374135:p.Ala330Thr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A330T	ENST00000389484.3	37	c.988	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988177	0.93106	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97138	-4.26	5.2	4.32	0.51571	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.079008	0.49305	U	0.000153	D	0.97688	0.9242	M	0.88377	2.95	0.41912	D	0.990471	P	0.48016	0.904	P	0.48598	0.583	D	0.97747	1.0212	10	0.59425	D	0.04	.	15.8206	0.78638	0.0:0.8636:0.1364:0.0	.	330	Q9NZR2	LRP1B_HUMAN	T	330;268	ENSP00000374135:A330T	ENSP00000374135:A330T	A	-	1	0	LRP1B	141662485	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.988000	0.70579	1.162000	0.42619	-0.165000	0.13383	GCA	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	21	0	C	NM_018557		141946015	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	T	T	141946015	C	T	141946015	3	4	58	1	0	0	0	0	1	0	0	0	8990	797	28	3	13151	3	LRP1B	2	141946015	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	686706	141946015	101253358	368	14751											
MBD5	55777	genome.wustl.edu	37	chr2	149221353	149221353	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaacagagaaccgcaGaagatgttaaggcagatgaa	17	6	12	6	1	0	6	0	2	0	4	0	7	0	6	1	1	2	3	1	1	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:149221353G>T	ENST00000407073.1	+	8	1259	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E88*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	88					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAGAACCGCAGAAGATGTTAA	0.368																																																	0													94	104	101					2																	149221353		2203	4299	6502	SO:0001587	stop_gained	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.262G>T	2.37:g.149221353G>T	ENSP00000386049:p.Glu88*		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.E88*	ENST00000407073.1	37	c.262	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	46	12.845765	0.99700	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.8451	20.2825	0.98528	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000384672:E88X	E	+	1	0	MBD5	148937823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.873000	0.98535	0.561000	0.74099	GAA	MBD5	-	smart_Methyl_CpG_DNA-bd	ENSG00000204406		0.368	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2		0	18	0	G			149221353	1			no_errors	ENST00000407073	ensembl	human	known	74_37	nonsense	11.76	30	4	SNP	1.000	T	T	149221353	G	T	149221353	4	4	58	1	0	0	0	0	0	1	0	0	9385	943	33	3	272	3	MBD5	2	149221353	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7275338	149221353	93978020	369	14752											
NEB	4703	genome.wustl.edu	37	chr2	152350344	152350344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcaggagtaaagggtGtgggggttgctttccccagg	7	10	15	9	0	1	0	1	0	1	0	3	1	2	1	3	5	1	3	3	5	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:152350344G>T	ENST00000172853.10	-	142	19196	c.19049C>A	c.(19048-19050)aCa>aAa	p.T6350K	RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.T8206K|NEB_ENST00000603639.1_Missense_Mutation_p.T8206K|NEB_ENST00000397336.2_Missense_Mutation_p.T181K|NEB_ENST00000397345.3_Missense_Mutation_p.T8206K|NEB_ENST00000427231.2_Missense_Mutation_p.T8206K|NEB_ENST00000409198.1_Missense_Mutation_p.T6350K			P20929	NEBU_HUMAN	nebulin	6350					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTAAAGGGTGTGGGGGTTGC	0.378																																																	0													58	56	56					2																	152350344		1828	4080	5908	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19049C>A	2.37:g.152350344G>T	ENSP00000172853:p.Thr6350Lys		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.T8206K	ENST00000172853.10	37	c.24617		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.17|11.17|11.17	1.558908|1.558908|1.558908	0.27827|0.27827|0.27827	.|.|.	.|.|.	ENSG00000183091|ENSG00000183091|ENSG00000183091	ENST00000397337|ENST00000421461|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000397336	.|.|T;T;T;T;T	.|.|0.05786	.|.|3.39;3.45;3.45;3.39;3.95	5.93|5.93|5.93	4.15|4.15|4.15	0.48705|0.48705|0.48705	.|.|.	.|.|0.377447	.|.|0.33670	.|.|N	.|.|0.004662	T|T|T	0.15089|0.15089|0.15089	0.0364|0.0364|0.0364	L|L|L	0.51914|0.51914|0.51914	1.62|1.62|1.62	0.25951|0.25951|0.25951	N|N|N	0.982751|0.982751|0.982751	.|.|P;D;D	.|.|0.89917	.|.|0.764;0.978;1.0	.|.|P;P;D	.|.|0.87578	.|.|0.493;0.634;0.998	T|T|T	0.09207|0.09207|0.09207	-1.0685|-1.0685|-1.0685	5|5|10	.|.|0.13470	.|.|T	.|.|0.59	.|.|.	9.7705|9.7705|9.7705	0.40587|0.40587|0.40587	0.2116:0.0:0.7884:0.0|0.2116:0.0:0.7884:0.0|0.2116:0.0:0.7884:0.0	.|.|.	.|.|181;6350;8206	.|.|B7Z6P9;P20929;F8WCL5	.|.|.;NEBU_HUMAN;.	N|Q|K	340|351|6350;8206;8206;6350;181	.|.|ENSP00000386259:T6350K;ENSP00000380505:T8206K;ENSP00000416578:T8206K;ENSP00000172853:T6350K;ENSP00000380497:T181K	.|.|ENSP00000172853:T6350K	H|H|T	-|-|-	1|3|2	0|2|0	NEB|NEB|NEB	152058590|152058590|152058590	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.990000|0.990000|0.990000	0.47175|0.47175|0.47175	0.208000|0.208000|0.208000	0.24298|0.24298|0.24298	4.927000|4.927000|4.927000	0.63440|0.63440|0.63440	0.848000|0.848000|0.848000	0.35191|0.35191|0.35191	-0.150000|-0.150000|-0.150000	0.13652|0.13652|0.13652	CAC|CAC|ACA	NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.378	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	42	0	G	NM_004543		152350344	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.907	T	T	152350344	G	T	152350344	3	4	58	1	0	0	0	0	1	0	0	0	10341	1377	48	3	992	3	NEB	2	152350344	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3128991	152350344	90849029	370	14753											
NEB	4703	genome.wustl.edu	37	chr2	152420128	152420128	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttacttaccgcactccTcatcttttggaaatccagac	11	13	4	13	1	2	1	1	0	1	1	4	2	4	2	3	1	2	1	3	1	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:152420128T>G	ENST00000172853.10	-	91	13729	c.13582A>C	c.(13582-13584)Agg>Cgg	p.R4528R	NEB_ENST00000604864.1_Silent_p.R6229R|NEB_ENST00000603639.1_Silent_p.R6229R|NEB_ENST00000397345.3_Silent_p.R6229R|NEB_ENST00000427231.2_Silent_p.R6229R|NEB_ENST00000409198.1_Silent_p.R4528R			P20929	NEBU_HUMAN	nebulin	4528					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCGCACTCCTCATCTTTTGG	0.458																																																	0													257	242	247					2																	152420128		1965	4152	6117	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13582A>C	2.37:g.152420128T>G			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R6229	ENST00000172853.10	37	c.18685		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.458	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	76	0	T	NM_004543		152420128	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	23.21	43	13	SNP	1.000	G	G	152420128	T	G	152420128	2	3	58	1	0	0	0	0	0	0	0	1	10341	1550	54	4		4	NEB	2	152420128	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	69784	152420128	90779245	371	14754											
NEB	4703	genome.wustl.edu	37	chr2	152424871	152424871	+	Frame_Shift_Del	DEL	G	G	-																															ctcctgggcagtgtgcagcaGgggggtttctgtgagggtgt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:152424871delG	ENST00000172853.10	-	84	12739	c.12592delC	c.(12592-12594)ctgfs	p.L4199fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.L5900fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.L5900fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.L5900fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.L5900fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.L4199fs			P20929	NEBU_HUMAN	nebulin	4199					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTGCAGCAGGGGGGTTTCT	0.483																																																	0													91	98	96					2																	152424871		1882	4106	5988	SO:0001589	frameshift_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12592delC	2.37:g.152424871delG	ENSP00000172853:p.Leu4199fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L5899fs	ENST00000172853.10	37	c.17695		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	77	0	G	NM_004543		152424871	-1	tier1		no_errors	ENST00000397345	ensembl	human	known	74_37	frame_shift_del	34.69	64	34	DEL	0.000	-	-	152424871	G	-	152424871	7	5	58	1	0	1	0	1	0	0	0	0	10341	991	35	0	8275	0	NEB	2	152424871	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	4743	152424871	90774502	372	14755											
NR4A2	4929	genome.wustl.edu	37	chr2	157182418	157182418	+	Frame_Shift_Del	DEL	C	C	-																															aaataattggggcggttcaaCcccccattgttgaaagtcac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:157182418delC	ENST00000339562.4	-	8	1997	c.1635delG	c.(1633-1635)gggfs	p.G545fs	NR4A2_ENST00000429376.1_Frame_Shift_Del_p.V448fs|NR4A2_ENST00000426264.1_Frame_Shift_Del_p.G482fs|NR4A2_ENST00000409572.1_Frame_Shift_Del_p.G545fs|NR4A2_ENST00000409108.2_Frame_Shift_Del_p.V511fs|NR4A2_ENST00000539077.1_Frame_Shift_Del_p.G556fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	545					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCGGTTCAACCCCCCATTGT	0.483																																																	0													114	116	115					2																	157182418		2203	4300	6503	SO:0001589	frameshift_variant	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1635delG	2.37:g.157182418delC	ENSP00000344479:p.Gly545fs		Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.L557fs	ENST00000339562.4	37	c.1668	CCDS2201.1	2																																																																																			NR4A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_NURR_rcpt	ENSG00000153234		0.483	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2		0	18	0	C			157182418	-1	tier1		no_errors	ENST00000539077	ensembl	human	known	74_37	frame_shift_del	27.27	16	6	DEL	0.001	-	-	157182418	C	-	157182418	7	5	58	1	0	1	0	1	0	0	0	0	10672	494	18	0	165	0	NR4A2	2	157182418	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	4757547	157182418	86016955	373	14756											
NR4A2	4929	genome.wustl.edu	37	chr2	157185943	157185943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagggggagccccgcgaCggcggtgagggcacctgcgt	5	5	20	11	5	0	1	0	1	0	0	0	4	0	3	3	6	2	1	3	6	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:157185943C>T	ENST00000339562.4	-	3	1118	c.756G>A	c.(754-756)ccG>ccA	p.P252P	NR4A2_ENST00000429376.1_Silent_p.P189P|NR4A2_ENST00000426264.1_Silent_p.P189P|NR4A2_ENST00000409572.1_Silent_p.P252P|NR4A2_ENST00000409108.2_Silent_p.P252P|NR4A2_ENST00000539077.1_Silent_p.P263P	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	252					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AGCCCCGCGACGGCGGTGAGG	0.697																																																	0													17	18	18					2																	157185943		2201	4298	6499	SO:0001819	synonymous_variant	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.756G>A	2.37:g.157185943C>T			Q16311|Q53RZ2|Q6NXU0	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.P263	ENST00000339562.4	37	c.789	CCDS2201.1	2																																																																																			NR4A2	-	prints_Retinoic_acid_rcpt	ENSG00000153234		0.697	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2	-	0	82	0	C			157185943	-1	tier1	-	no_errors	ENST00000539077	ensembl	human	known	74_37	silent	46.30	29	25	SNP	1.000	T	T	157185943	C	T	157185943	2	4	58	1	0	0	0	0	0	0	0	1	10672	523	19	1		1	NR4A2	2	157185943	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3525	157185943	86013430	374	14757											
ACVR1C	130399	genome.wustl.edu	37	chr2	158412733	158412733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcctgtaggagcactgtCgaccctggcatgcccatact	7	11	9	14	1	1	0	0	0	1	0	3	2	2	1	3	2	3	3	3	2	2	3	rs201171210		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:158412733C>T	ENST00000243349.8	-	3	776	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R89Q|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GGAGCACTGTCGACCCTGGCA	0.483																																																	0								C	GLN/ARG,,,GLN/ARG	0,4406		0,0,2203	103	86	92		266,,,416	4.9	0	2		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron,missense	ACVR1C	NM_001111031.1,NM_001111032.1,NM_001111033.1,NM_145259.2	43,,,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,,possibly-damaging	89/444,,,139/494	158412733	1,13005	2203	4300	6503	SO:0001583	missense	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.416G>A	2.37:g.158412733C>T	ENSP00000243349:p.Arg139Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R139Q	ENST00000243349.8	37	c.416	CCDS2205.1	2	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251121	0.39797	0.0	1.16E-4	ENSG00000123612	ENST00000243349;ENST00000409680	D;D	0.89123	-2.47;-2.36	5.73	4.86	0.63082	.	0.000000	0.46758	D	0.000272	D	0.87042	0.6079	M	0.65498	2.005	0.80722	D	1	B	0.24258	0.1	B	0.22880	0.042	D	0.84305	0.0507	10	0.49607	T	0.09	.	11.7815	0.52018	0.0:0.8566:0.0:0.1434	.	139	Q8NER5	ACV1C_HUMAN	Q	139;89	ENSP00000243349:R139Q;ENSP00000387168:R89Q	ENSP00000243349:R139Q	R	-	2	0	ACVR1C	158120979	0.863000	0.29885	0.024000	0.17045	0.379000	0.30106	1.632000	0.37102	1.429000	0.47314	0.650000	0.86243	CGA	ACVR1C	-	NULL	ENSG00000123612		0.483	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	-	0	52	0	C	NM_145259		158412733	-1	tier1	rs201171210	no_errors	ENST00000243349	ensembl	human	known	74_37	missense	48.48	34	32	SNP	0.901	T	T	158412733	C	T	158412733	3	4	58	1	0	0	0	0	1	0	0	0	222	884	31	1	1093	1	ACVR1C	2	158412733	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1226790	158412733	84786640	375	14758											
CSRNP3	80034	genome.wustl.edu	37	chr2	166535346	166535346	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgaactggagaaaaacCgagagcagcaaatccccacg	17	4	9	11	2	0	3	0	1	0	2	1	5	1	3	3	1	5	2	3	1	5	1	rs186955356		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:166535346C>T	ENST00000342316.4	+	5	1113	c.841C>T	c.(841-843)Cga>Tga	p.R281*	CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R313*|CSRNP3_ENST00000314499.7_Nonsense_Mutation_p.R281*	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	281					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GGAGAAAAACCGAGAGCAGCA	0.448																																																	0													76	75	75					2																	166535346		2203	4300	6503	SO:0001587	stop_gained	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.841C>T	2.37:g.166535346C>T	ENSP00000344042:p.Arg281*		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Nonsense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.R281*	ENST00000342316.4	37	c.841	CCDS2225.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.193743	0.94960	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	.	.	.	5.71	4.83	0.62350	.	0.192440	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5576	12.6274	0.56638	0.4174:0.5826:0.0:0.0	.	.	.	.	X	281;288;281;281;313	.	ENSP00000318258:R281X	R	+	1	2	CSRNP3	166243592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.649000	0.61433	1.394000	0.46624	0.650000	0.86243	CGA	CSRNP3	-	NULL	ENSG00000178662		0.448	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	-	0	53	0	C	NM_024969		166535346	1	tier1	-	no_errors	ENST00000314499	ensembl	human	known	74_37	nonsense	53.33	28	32	SNP	1.000	T	T	166535346	C	T	166535346	4	4	58	1	0	0	0	0	0	1	0	0	3974	644	23	1	855	1	CSRNP3	2	166535346	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8122613	166535346	76664027	376	14759											
SCN7A	6332	genome.wustl.edu	37	chr2	167313546	167313546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaaaaacttaccaccAcaaaaaatatcatgtagacc	23	6	2	10	0	1	1	1	0	0	1	1	1	1	1	3	0	3	1	3	0	11	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:167313546A>G	ENST00000409855.1	-	10	1250	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	375					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACTTACCACCACAAAAAATAT	0.348																																																	0													69	61	63					2																	167313546		1815	4075	5890	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1124T>C	2.37:g.167313546A>G	ENSP00000386796:p.Val375Ala			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.V375A	ENST00000409855.1	37	c.1124	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	A	17.75	3.466144	0.63625	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98947	-5.26;-5.26;-5.26	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.47852	D	0.000220	D	0.98378	0.9461	M	0.80982	2.52	0.38848	D	0.956217	P	0.45634	0.863	P	0.48227	0.571	D	0.99909	1.1192	10	0.87932	D	0	.	13.2728	0.60170	1.0:0.0:0.0:0.0	.	375	Q01118	SCN7A_HUMAN	A	375	ENSP00000386796:V375A;ENSP00000413699:V375A;ENSP00000403846:V375A	ENSP00000259060:V375A	V	-	2	0	SCN7A	167021792	1.000000	0.71417	0.986000	0.45419	0.328000	0.28507	9.216000	0.95154	2.006000	0.58801	0.454000	0.30748	GTG	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	36	0	A			167313546	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.998	G	G	167313546	A	G	167313546	3	3	58	1	0	0	0	0	1	0	0	0	13968	159	6	4	3988	4	SCN7A	2	167313546	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	778200	167313546	75885827	377	14760											
ZAK	51776	genome.wustl.edu	37	chr2	174062830	174062830	+	Frame_Shift_Del	DEL	A	A	-																															agtagcttggcttgtagtggAaaaaaacgaggtaagactac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:174062830delA	ENST00000375213.3	+	8	737	c.659delA	c.(658-660)gaafs	p.E220fs	MLTK_ENST00000539448.1_Frame_Shift_Del_p.E220fs|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Frame_Shift_Del_p.E220fs|MLTK_ENST00000431503.2_Frame_Shift_Del_p.E119fs|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Frame_Shift_Del_p.E220fs	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CTTGTAGTGGAAAAAAACGAG	0.383																																																	0													115	124	121					2																	174062830		2203	4300	6503	SO:0001589	frameshift_variant	0																														ENST00000375213.3:c.659delA	2.37:g.174062830delA	ENSP00000364361:p.Glu220fs		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N222fs	ENST00000375213.3	37	c.659	CCDS42777.1	2																																																																																			MLTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000091436		0.383	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_gn	protein_coding	OTTHUMT00000255401.1		0	63	0	A			174062830	1	tier1		no_errors	ENST00000375213	ensembl	human	known	74_37	frame_shift_del	40.54	44	30	DEL	1.000	-	-	174062830	A	-	174062830	7	5	58	1	0	1	0	1	0	0	0	0	17561	246	9	0	685	0	ZAK	2	174062830	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	6749284	174062830	69136543	378	14761											
HOXD8	3234	genome.wustl.edu	37	chr2	176995458	176995458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccgcctccgccgccacctCccccctgcggcgggattgcc	2	6	10	23	5	0	0	0	0	0	0	3	1	3	1	10	2	2	0	10	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:176995458C>T	ENST00000313173.4	+	1	991	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	HOXD8_ENST00000544999.1_Missense_Mutation_p.P122S|HOXD8_ENST00000450510.2_Missense_Mutation_p.P122S|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	122	Poly-Pro.				anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		gccgccacctcccccCTGCGG	0.687																																																	0													57	71	67					2																	176995458		2097	4117	6214	SO:0001583	missense	0				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.364C>T	2.37:g.176995458C>T	ENSP00000315949:p.Pro122Ser		F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P122S	ENST00000313173.4	37	c.364	CCDS2268.1	2	.	.	.	.	.	.	.	.	.	.	C	7.771	0.707366	0.15239	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	T;T;T	0.40756	1.02;1.02;1.02	4.27	4.27	0.50696	.	0.224065	0.30791	N	0.008868	T	0.20577	0.0495	N	0.08118	0	0.28979	N	0.888767	P;P	0.47762	0.9;0.9	B;B	0.43754	0.43;0.43	T	0.07751	-1.0756	10	0.07813	T	0.8	.	8.5169	0.33250	0.0:0.8901:0.0:0.1099	.	122;122	Q8IXZ1;P13378	.;HXD8_HUMAN	S	122	ENSP00000315949:P122S;ENSP00000437431:P122S;ENSP00000409026:P122S	ENSP00000315949:P122S	P	+	1	0	HOXD8	176703704	0.016000	0.18221	1.000000	0.80357	0.995000	0.86356	-0.432000	0.06956	2.069000	0.61940	0.643000	0.83706	CCC	HOXD8	-	NULL	ENSG00000175879		0.687	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HOXD8	HGNC	protein_coding	OTTHUMT00000255694.1		0	17	0	C			176995458	1			no_errors	ENST00000313173	ensembl	human	known	74_37	missense	22.22	4	2	SNP	1.000	T	T	176995458	C	T	176995458	3	4	58	1	0	0	0	0	1	0	0	0	7352	855	30	3	366	3	HOXD8	2	176995458	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2932628	176995458	66203915	379	14762											
OSBPL6	114880	genome.wustl.edu	37	chr2	179201135	179201135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctggttacaggactcGgaagagatggacaggtgtgc	10	7	16	8	1	0	1	0	0	0	1	1	5	0	4	1	5	3	2	1	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179201135G>A	ENST00000190611.4	+	9	1141	c.765G>A	c.(763-765)tcG>tcA	p.S255S	OSBPL6_ENST00000392505.2_Silent_p.S255S|OSBPL6_ENST00000409631.1_Silent_p.S255S|OSBPL6_ENST00000357080.4_Silent_p.S255S|OSBPL6_ENST00000409045.3_Silent_p.S255S|OSBPL6_ENST00000315022.2_Silent_p.S234S|OSBPL6_ENST00000359685.3_Silent_p.S255S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	255					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S255S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TACAGGACTCGGAAGAGATGG	0.507																																																	2	Substitution - coding silent(2)	lung(2)											143	142	143					2																	179201135		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"Oxysterol binding proteins"	16388	protein-coding gene	gene with protein product	"OSBP-related protein 6"	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.765G>A	2.37:g.179201135G>A			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S234	ENST00000190611.4	37	c.702	CCDS2277.1	2																																																																																			OSBPL6	-	NULL	ENSG00000079156		0.507	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0	20	0	G	NM_032523		179201135	1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	silent	55.56	8	10	SNP	0.020	A	A	179201135	G	A	179201135	2	1	58	1	0	0	0	0	0	0	0	1	11320	1103	39	1		1	OSBPL6	2	179201135	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2205677	179201135	63998238	380	14763											
TTN	7273	genome.wustl.edu	37	chr2	179395339	179395339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccatctgctgaataatGaaactggaaatgcccatttt	13	12	8	8	0	1	2	0	2	1	0	1	3	1	3	2	2	4	2	2	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179395339G>T	ENST00000591111.1	-	308	101304	c.101080C>A	c.(101080-101082)Cat>Aat	p.H33694N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H26395N|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H26270N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H35335N|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H32767N|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H26462N|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33694	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGAATAATGAAACTGGAAA	0.403																																																	0													111	101	104					2																	179395339		1865	4111	5976	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101080C>A	2.37:g.179395339G>T	ENSP00000465570:p.His33694Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H32767N	ENST00000591111.1	37	c.98299		2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538315	0.65085	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.12	5.12	0.69794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78162	0.4240	L	0.46741	1.465	0.49582	D	0.9998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.80407	-0.1395	9	0.87932	D	0	.	18.5908	0.91212	0.0:0.0:1.0:0.0	.	26270;26395;26462;33694	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	32767;26270;26462;26395;26267	ENSP00000343764:H32767N;ENSP00000434586:H26270N;ENSP00000340554:H26462N;ENSP00000352154:H26395N	ENSP00000340554:H26462N	H	-	1	0	TTN	179103585	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.368000	0.73104	2.395000	0.81488	0.561000	0.74099	CAT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	42	0	G	NM_133378		179395339	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	179395339	G	T	179395339	3	4	58	1	0	0	0	0	1	0	0	0	16784	1290	45	3	1996	3	TTN	2	179395339	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	194204	179395339	63804034	381	14764											
TTN	7273	genome.wustl.edu	37	chr2	179498701	179498701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtttggcatcatttttGaaccagactacatgcatttt	10	16	8	7	0	1	2	1	1	0	1	1	3	1	3	1	2	3	3	1	2	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179498701G>T	ENST00000591111.1	-	181	37826	c.37602C>A	c.(37600-37602)ttC>ttA	p.F12534L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F5235L|TTN_ENST00000460472.2_Missense_Mutation_p.F5110L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F14175L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F11607L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F5302L			Q8WZ42	TITIN_HUMAN	titin	12534	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTTTTGAACCAGACTA	0.358																																																	0													289	269	275					2																	179498701		1880	4109	5989	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37602C>A	2.37:g.179498701G>T	ENSP00000465570:p.Phe12534Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.F11607L	ENST00000591111.1	37	c.34821		2	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921791	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.95	2.7	0.31948	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21718	0.0523	N	0.08118	0	0.36983	D	0.894381	B;B;B;B	0.28128	0.201;0.201;0.201;0.201	B;B;B;B	0.24701	0.055;0.055;0.055;0.055	T	0.20706	-1.0267	9	0.87932	D	0	.	8.0481	0.30562	0.1638:0.0:0.7037:0.1324	.	5110;5235;5302;12534	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11607;5110;5302;5235;5110	ENSP00000343764:F11607L;ENSP00000434586:F5110L;ENSP00000340554:F5302L;ENSP00000352154:F5235L	ENSP00000340554:F5302L	F	-	3	2	TTN	179206946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.525000	0.67110	1.432000	0.47375	0.655000	0.94253	TTC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	44	0	G	NM_133378		179498701	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	T	T	179498701	G	T	179498701	3	4	58	1	0	0	0	0	1	0	0	0	16784	1281	45	3	65696	3	TTN	2	179498701	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	103362	179498701	63700672	382	14765											
TTN	7273	genome.wustl.edu	37	chr2	179584325	179584325	+	Frame_Shift_Del	DEL	T	T	-																															agttacttttgccaacactgTttttcacttcaaagctatat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179584325delT	ENST00000591111.1	-	80	23167	c.22943delA	c.(22942-22944)aacfs	p.N7648fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.N7965fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.N6721fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13198	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAACACTGTTTTTCACTTC	0.398																																																	0													192	185	187					2																	179584325		1874	4100	5974	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22943delA	2.37:g.179584325delT	ENSP00000465570:p.Asn7648fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.N6721fs	ENST00000591111.1	37	c.20162		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	35	0	T	NM_133378		179584325	-1	tier1		no_errors	ENST00000342992	ensembl	human	known	74_37	frame_shift_del	33.33	20	10	DEL	1.000	-	-	179584325	T	-	179584325	7	5	58	1	0	1	0	1	0	0	0	0	16784	1725	60	0	80759	0	TTN	2	179584325	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	85624	179584325	63615048	383	14766											
TTN	7273	genome.wustl.edu	37	chr2	179613430	179613430	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taataggtgattcatgttcaGctcttttagaaattgcaggt	11	16	9	5	0	3	2	2	1	1	1	3	2	3	2	0	2	2	3	0	2	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179613430G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A4566D			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATGTTCAGCTCTTTTAGA	0.338																																																	0													109	114	112					2																	179613430		2203	4296	6499	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4420C>A	2.37:g.179613430G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A4566D	ENST00000591111.1	37	c.13697		2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582662	0.28180	.	.	ENSG00000155657	ENST00000360870	T	0.59906	0.23	5.56	0.598	0.17512	.	.	.	.	.	T	0.46073	0.1374	N	0.24115	0.695	0.09310	N	0.999999	B	0.30973	0.302	B	0.36186	0.219	T	0.42447	-0.9451	9	0.56958	D	0.05	.	11.9548	0.52974	0.4228:0.0:0.5772:0.0	.	4566	Q8WZ42-6	.	D	4566	ENSP00000354117:A4566D	ENSP00000354117:A4566D	A	-	2	0	TTN	179321675	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	0.125000	0.15749	-0.159000	0.11021	-1.119000	0.02030	GCT	TTN	-	NULL	ENSG00000155657		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	33	0	G	NM_133378		179613430	-1			no_errors	ENST00000360870	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	T	T	179613430	G	T	179613430	1	4	58	0	1	0	0	0	0	0	0	0	16784	971	34	3		3	TTN	2	179613430	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	29105	179613430	63585943	384	14767											
TTN	7273	genome.wustl.edu	37	chr2	179631242	179631242	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatttgtgtcgttcttgaActtggaaattgatttcaatg	10	18	8	5	1	2	2	1	2	1	0	3	3	2	3	0	1	1	1	0	1	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179631242A>T	ENST00000591111.1	-	41	9793	c.9569T>A	c.(9568-9570)gTt>gAt	p.V3190D	TTN_ENST00000359218.5_Missense_Mutation_p.V3144D|TTN_ENST00000460472.2_Missense_Mutation_p.V3144D|TTN_ENST00000589042.1_Missense_Mutation_p.V3190D|TTN_ENST00000342992.6_Missense_Mutation_p.V3190D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V3144D|TTN_ENST00000360870.5_Missense_Mutation_p.V3190D			Q8WZ42	TITIN_HUMAN	titin	13520					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGTTCTTGAACTTGGAAATT	0.423																																																	0													156	142	146					2																	179631242		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9569T>A	2.37:g.179631242A>T	ENSP00000465570:p.Val3190Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V3190D	ENST00000591111.1	37	c.9569		2	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094106	0.36952	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05777	0.0151	L	0.29908	0.895	0.35847	D	0.826505	B;B;B;B;P	0.40875	0.317;0.317;0.317;0.317;0.731	B;B;B;B;P	0.44359	0.17;0.17;0.283;0.283;0.447	T	0.30327	-0.9982	9	0.87932	D	0	.	6.6696	0.23060	0.7788:0.0:0.075:0.1462	.	3144;3144;3144;3190;3190	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	3190;3144;3144;3144;3144;3190	ENSP00000343764:V3190D;ENSP00000434586:V3144D;ENSP00000340554:V3144D;ENSP00000352154:V3144D;ENSP00000354117:V3190D	ENSP00000340554:V3144D	V	-	2	0	TTN	179339487	0.990000	0.36364	1.000000	0.80357	0.958000	0.62258	3.254000	0.51477	2.175000	0.68902	0.482000	0.46254	GTT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	88	0	A	NM_133378		179631242	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.990	T	T	179631242	A	T	179631242	3	4	58	1	0	0	0	0	1	0	0	0	16784	43	2	5	101707	5	TTN	2	179631242	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	17812	179631242	63568131	385	14768											
TTN	7273	genome.wustl.edu	37	chr2	179643760	179643760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagaacaacaggtataCgcagactagctctgccatct	13	8	9	11	1	2	2	0	0	2	2	2	3	2	3	1	2	5	3	1	2	6	3	rs539470256		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179643760C>T	ENST00000591111.1	-	24	4273	c.4049G>A	c.(4048-4050)cGt>cAt	p.R1350H	TTN_ENST00000359218.5_Missense_Mutation_p.R1304H|TTN_ENST00000460472.2_Missense_Mutation_p.R1304H|TTN_ENST00000589042.1_Missense_Mutation_p.R1350H|TTN_ENST00000342992.6_Missense_Mutation_p.R1350H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1304H|TTN_ENST00000360870.5_Missense_Mutation_p.R1350H			Q8WZ42	TITIN_HUMAN	titin	33546	Ig-like 5.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1304H(4)|p.R1350H(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGGTATACGCAGACTAGC	0.413													C|||	1	0.000199681	0	0	5008	,	,		20801	0.001		0	False		,,,				2504	0																7	Substitution - Missense(7)	kidney(6)|stomach(1)											141	123	129					2																	179643760		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4049G>A	2.37:g.179643760C>T	ENSP00000465570:p.Arg1350His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1350H	ENST00000591111.1	37	c.4049		2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483763	0.63962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	N	0.12569	0.235	0.46981	D	0.999277	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76852	-0.2806	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1304;1304;1304;1350;1350	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1350;1304;1304;1304;1304;1350	ENSP00000343764:R1350H;ENSP00000434586:R1304H;ENSP00000340554:R1304H;ENSP00000352154:R1304H;ENSP00000354117:R1350H	ENSP00000340554:R1304H	R	-	2	0	TTN	179352005	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.936000	0.63506	2.711000	0.92665	0.655000	0.94253	CGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	23	0	C	NM_133378		179643760	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	T	T	179643760	C	T	179643760	3	4	58	1	0	0	0	0	1	0	0	0	16784	536	19	1	107295	1	TTN	2	179643760	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	12518	179643760	63555613	386	14769											
TTN	7273	genome.wustl.edu	37	chr2	179643779	179643779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagactagctctgccatCttgtagaaagtccatttggt	10	12	9	10	1	2	2	0	0	2	2	3	2	3	2	2	1	2	3	2	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179643779C>A	ENST00000591111.1	-	24	4254	c.4030G>T	c.(4030-4032)Gat>Tat	p.D1344Y	TTN_ENST00000359218.5_Missense_Mutation_p.D1298Y|TTN_ENST00000460472.2_Missense_Mutation_p.D1298Y|TTN_ENST00000589042.1_Missense_Mutation_p.D1344Y|TTN_ENST00000342992.6_Missense_Mutation_p.D1344Y|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D1298Y|TTN_ENST00000360870.5_Missense_Mutation_p.D1344Y			Q8WZ42	TITIN_HUMAN	titin	33540	Ig-like 5.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTGCCATCTTGTAGAAAG	0.393																																																	0													133	117	123					2																	179643779		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4030G>T	2.37:g.179643779C>A	ENSP00000465570:p.Asp1344Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D1344Y	ENST00000591111.1	37	c.4030		2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962428	0.53400	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64170	0.2574	L	0.57536	1.79	0.45025	D	0.998042	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.64715	-0.6342	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1298;1298;1298;1344;1344	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	1344;1298;1298;1298;1298;1344	ENSP00000343764:D1344Y;ENSP00000434586:D1298Y;ENSP00000340554:D1298Y;ENSP00000352154:D1298Y;ENSP00000354117:D1344Y	ENSP00000340554:D1298Y	D	-	1	0	TTN	179352024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.781000	0.85668	2.711000	0.92665	0.655000	0.94253	GAT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	19	0	C	NM_133378		179643779	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A	A	179643779	C	A	179643779	3	1	58	1	0	0	0	0	1	0	0	0	16784	913	32	3	107314	3	TTN	2	179643779	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	19	179643779	63555594	387	14770											
SESTD1	91404	genome.wustl.edu	37	chr2	180016104	180016104	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacgagtcaatttgttggcGgacactaaaataacctataa	16	11	7	7	2	1	0	1	0	0	0	1	2	1	1	1	2	2	1	1	2	7	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:180016104G>A	ENST00000428443.3	-	6	700	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	128	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTTGTTGGCGGACACTAAAA	0.348																																																	0													62	61	61					2																	180016104		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.384C>T	2.37:g.180016104G>A			Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S128	ENST00000428443.3	37	c.384	CCDS33338.1	2																																																																																			SESTD1	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000187231		0.348	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	-	0	81	0	G	NM_178123		180016104	-1	tier1	-	no_errors	ENST00000428443	ensembl	human	known	74_37	silent	45.68	44	37	SNP	0.974	A	A	180016104	G	A	180016104	2	1	58	1	0	0	0	0	0	0	0	1	14172	1103	39	1		1	SESTD1	2	180016104	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	372325	180016104	63183269	388	14771											
ITGA4	3676	genome.wustl.edu	37	chr2	182347339	182347339	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcagagcaccatcagAgaggaaggaagagtgtttgt	13	7	13	8	0	1	3	1	0	0	3	1	6	1	5	2	2	2	3	2	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:182347339A>T	ENST00000397033.2	+	9	1432	c.1002A>T	c.(1000-1002)agA>agT	p.R334S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	334					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCACCATCAGAGAGGAAGGAA	0.483																																																	0													150	149	149					2																	182347339		1991	4166	6157	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1002A>T	2.37:g.182347339A>T	ENSP00000380227:p.Arg334Ser		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R334S	ENST00000397033.2	37	c.1002	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061057	0.76074	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.10382	2.88;2.88	5.81	-0.749	0.11084	.	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	L	0.41906	1.305	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.00159	-1.1974	10	0.72032	D	0.01	.	11.3852	0.49780	0.7435:0.0:0.2565:0.0	.	334;334	E7EP60;P13612	.;ITA4_HUMAN	S	334	ENSP00000380227:R334S;ENSP00000233573:R334S	ENSP00000233573:R334S	R	+	3	2	ITGA4	182055584	0.981000	0.34729	0.993000	0.49108	0.961000	0.63080	0.226000	0.17776	-0.218000	0.10018	-0.924000	0.02725	AGA	ITGA4	-	pfam_FG-GAP,smart_Int_alpha_beta-p	ENSG00000115232		0.483	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	-	0	116	0	A			182347339	1	tier1	-	no_errors	ENST00000397033	ensembl	human	known	74_37	missense	35.92	66	37	SNP	0.981	T	T	182347339	A	T	182347339	3	4	58	1	0	0	0	0	1	0	0	0	7905	301	11	5	1036	5	ITGA4	2	182347339	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2331235	182347339	60852034	389	14772											
FRZB	2487	genome.wustl.edu	37	chr2	183731079	183731079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttcgaactgctcgatggCcaggatggcgttggcctgag	7	9	14	11	3	0	1	0	1	0	0	2	4	0	2	3	4	2	2	3	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:183731079C>T	ENST00000295113.4	-	1	811	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	68	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCTCGATGGCCAGGATGGCG	0.607																																																	0													109	89	96					2																	183731079		2203	4300	6503	SO:0001583	missense	0			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.202G>A	2.37:g.183731079C>T	ENSP00000295113:p.Ala68Thr		O00181|Q99686	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.A68T	ENST00000295113.4	37	c.202	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414361	0.83449	.	.	ENSG00000162998	ENST00000295113	T	0.75367	-0.93	4.91	4.91	0.64330	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81707	-0.0810	10	0.59425	D	0.04	.	14.773	0.69693	0.1445:0.8555:0.0:0.0	.	68	Q92765	SFRP3_HUMAN	T	68	ENSP00000295113:A68T	ENSP00000295113:A68T	A	-	1	0	FRZB	183439324	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.680000	0.68168	2.530000	0.85305	0.561000	0.74099	GCC	FRZB	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000162998		0.607	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	-	0	115	0	C	NM_001463		183731079	-1	tier1	-	no_errors	ENST00000295113	ensembl	human	known	74_37	missense	41.67	49	35	SNP	1.000	T	T	183731079	C	T	183731079	3	4	58	1	0	0	0	0	1	0	0	0	6089	739	26	3	799	3	FRZB	2	183731079	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1383740	183731079	59468294	390	14773											
ZNF804A	91752	genome.wustl.edu	37	chr2	185803528	185803528	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacagtttctttcccaaatCccagctctcaccagaacctc	11	10	3	17	0	2	1	1	0	2	1	6	1	4	1	4	0	3	2	4	0	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:185803528C>A	ENST00000302277.6	+	4	3999	c.3405C>A	c.(3403-3405)atC>atA	p.I1135I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1135							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCCAAATCCCAGCTCTCA	0.542																																																	0													150	145	147					2																	185803528		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3405C>A	2.37:g.185803528C>A			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.I1135	ENST00000302277.6	37	c.3405	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.542	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	35	0	C	NM_194250		185803528	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	silent	53.85	12	14	SNP	0.878	A	A	185803528	C	A	185803528	2	1	58	1	0	0	0	0	0	0	0	1	18218	845	30	3		3	ZNF804A	2	185803528	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2072449	185803528	57395845	391	14774											
FSIP2	401024	genome.wustl.edu	37	chr2	186658445	186658445	+	Frame_Shift_Del	DEL	A	A	-																															acattttgtgatacgtttccAaaaatagactgtcaacagcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:186658445delA	ENST00000424728.1	+	16	6582	c.6582delA	c.(6580-6582)ccafs	p.P2194fs	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Frame_Shift_Del_p.P2283fs|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	2194										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATACGTTTCCAAAAATAGACT	0.368																																																	0																																										SO:0001589	frameshift_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.6582delA	2.37:g.186658445delA	ENSP00000401306:p.Pro2194fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Del	DEL	NULL	p.I2285fs	ENST00000424728.1	37	c.6849		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.368	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0	16	0	A	NM_173651		186658445	1	tier1		no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_del	25.93	20	7	DEL	0.143	-	-	186658445	A	-	186658445	7	5	58	1	0	1	0	1	0	0	0	0	6099	117	5	0	6911	0	FSIP2	2	186658445	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	854917	186658445	56540928	392	14775											
FSIP2	401024	genome.wustl.edu	37	chr2	186666048	186666048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgtcctggctcaatgaGatgaatacattatttgtcaa	12	14	8	7	0	2	2	2	2	0	1	3	3	3	2	1	1	1	1	1	1	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:186666048G>A	ENST00000424728.1	+	17	12015	c.12015G>A	c.(12013-12015)gaG>gaA	p.E4005E	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Silent_p.E4094E|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4005										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGCTCAATGAGATGAATACAT	0.353																																																	0																																										SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.12015G>A	2.37:g.186666048G>A			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.E4094	ENST00000424728.1	37	c.12282		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.353	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	51	0	G	NM_173651		186666048	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	42.31	30	22	SNP	0.986	A	A	186666048	G	A	186666048	2	1	58	1	0	0	0	0	0	0	0	1	6099	933	33	3		3	FSIP2	2	186666048	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7603	186666048	56533325	393	14776											
COL3A1	1281	genome.wustl.edu	37	chr2	189868173	189868173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgtcaaaggtgaacgtGgcagtcctggtggacctgta	10	9	15	7	1	1	1	1	1	0	0	2	2	2	2	2	5	1	2	2	5	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:189868173G>T	ENST00000304636.3	+	37	2760	c.2590G>T	c.(2590-2592)Ggc>Tgc	p.G864C	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	864	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGTGAACGTGGCAGTCCTGG	0.378																																																	0													105	107	106					2																	189868173		2203	4300	6503	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2590G>T	2.37:g.189868173G>T	ENSP00000304408:p.Gly864Cys		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G864C	ENST00000304636.3	37	c.2590	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955447	0.73902	.	.	ENSG00000168542	ENST00000304636	D	0.99186	-5.53	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000069	D	0.99594	0.9853	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97889	1.0296	10	0.87932	D	0	.	19.6481	0.95790	0.0:0.0:1.0:0.0	.	864	P02461	CO3A1_HUMAN	C	864	ENSP00000304408:G864C	ENSP00000304408:G864C	G	+	1	0	COL3A1	189576418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.164000	0.94755	2.651000	0.90000	0.557000	0.71058	GGC	COL3A1	-	NULL	ENSG00000168542		0.378	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0	67	0	G	NM_000090		189868173	1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	T	T	189868173	G	T	189868173	3	4	58	1	0	0	0	0	1	0	0	0	3695	1348	47	3	2736	3	COL3A1	2	189868173	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3202125	189868173	53331200	394	14777											
COL5A2	1290	genome.wustl.edu	37	chr2	189904132	189904132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcatgaacccctgggtccGttttgtttttgtcatcagga	7	15	10	9	1	2	1	2	1	0	0	3	2	3	2	3	2	2	3	3	2	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:189904132G>A	ENST00000374866.3	-	51	4065	c.3791C>T	c.(3790-3792)aCg>aTg	p.T1264M		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1264					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTGGGTCCGTTTTGTTTTT	0.522																																																	0													89	80	83					2																	189904132		2203	4300	6503	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3791C>T	2.37:g.189904132G>A	ENSP00000364000:p.Thr1264Met		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.T1264M	ENST00000374866.3	37	c.3791	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818832	0.50633	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.83250	-1.7	5.28	5.28	0.74379	.	0.000000	0.49916	D	0.000134	D	0.87752	0.6256	L	0.57536	1.79	0.49798	D	0.99982	D;D	0.89917	0.989;1.0	P;P	0.57324	0.649;0.818	D	0.86846	0.2020	10	0.39692	T	0.17	.	18.9001	0.92439	0.0:0.0:1.0:0.0	.	904;1264	Q5PR22;P05997	.;CO5A2_HUMAN	M	1264;904	ENSP00000364000:T1264M	ENSP00000364000:T1264M	T	-	2	0	COL5A2	189612377	1.000000	0.71417	0.993000	0.49108	0.748000	0.42578	6.210000	0.72176	2.451000	0.82905	0.655000	0.94253	ACG	COL5A2	-	NULL	ENSG00000204262		0.522	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0	103	0	G	NM_000393		189904132	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	35.37	53	29	SNP	1.000	A	A	189904132	G	A	189904132	3	1	58	1	0	0	0	0	1	0	0	0	3704	1145	40	1	724	1	COL5A2	2	189904132	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	35959	189904132	53295241	395	14778											
HECW2	57520	genome.wustl.edu	37	chr2	197184627	197184627	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagcttctggagaggcAtctgaatgagaaaacagcat	15	7	10	9	0	2	3	0	2	2	2	2	5	2	3	1	2	4	3	1	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:197184627A>G	ENST00000260983.3	-	9	1169	c.987T>C	c.(985-987)gaT>gaC	p.D329D	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	329					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGAGAGGCATCTGAATGAG	0.408																																																	0													48	45	46					2																	197184627		2203	4300	6503	SO:0001630	splice_region_variant	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.986-1T>C	2.37:g.197184627A>G			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.D329	ENST00000260983.3	37	c.987	CCDS33354.1	2																																																																																			HECW2	-	NULL	ENSG00000138411		0.408	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0	18	0	A	NM_020760	Silent	197184627	-1			no_errors	ENST00000260983	ensembl	human	known	74_37	silent	42.86	12	9	SNP	1.000	G	G	197184627	A	G	197184627	5	3	58	1	0	0	0	0	0	0	1	0	7070	231	8	4	3815	4	HECW2	2	197184627	Splice_Site	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	7280495	197184627	46014746	396	14779											
MARS2	92935	genome.wustl.edu	37	chr2	198571219	198571219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctaggacttgccttaacCgctataccgtggatggcttc	8	12	9	12	2	0	0	0	0	0	0	2	2	1	2	4	3	3	2	4	3	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:198571219C>T	ENST00000282276.6	+	1	1133	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	364					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTGCCTTAACCGCTATACCGT	0.542																																																	0													406	359	375					2																	198571219		2203	4300	6503	SO:0001583	missense	0			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	25133	protein-coding gene	gene with protein product	"methionine tRNA ligase 2, mitochondrial"	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1090C>T	2.37:g.198571219C>T	ENSP00000282276:p.Arg364Cys		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.R364C	ENST00000282276.6	37	c.1090	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159474	0.57368	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.48522	0.81	5.45	4.55	0.56014	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.658233	0.15009	N	0.285663	T	0.69006	0.3063	M	0.91249	3.19	0.28330	N	0.921815	D	0.60160	0.987	P	0.55303	0.773	T	0.68511	-0.5389	10	0.87932	D	0	-6.7822	13.4479	0.61151	0.1566:0.8434:0.0:0.0	.	364	Q96GW9	SYMM_HUMAN	C	364;291	ENSP00000282276:R364C	ENSP00000282276:R364C	R	+	1	0	MARS2	198279464	0.617000	0.27043	0.980000	0.43619	0.990000	0.78478	1.830000	0.39131	2.575000	0.86900	0.655000	0.94253	CGC	MARS2	-	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,tigrfam_Met-tRNA_synth	ENSG00000247626		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	HGNC	protein_coding	OTTHUMT00000335477.1	-	0	130	0	C	NM_138395		198571219	1	tier1	-	no_errors	ENST00000282276	ensembl	human	known	74_37	missense	32.97	61	30	SNP	0.345	T	T	198571219	C	T	198571219	3	4	58	1	0	0	0	0	1	0	0	0	9355	652	23	1	1092	1	MARS2	2	198571219	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1386592	198571219	44628154	397	14780											
ALS2CR12	130540	genome.wustl.edu	37	chr2	202216070	202216070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcttgattagcttccGtggtcccaagttccaggggt	6	12	14	9	1	1	1	0	1	1	0	4	1	4	1	3	5	1	2	3	5	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:202216070G>A	ENST00000286190.5	-	1	104	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20W|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20W|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R20W			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	20					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ATTAGCTTCCGTGGTCCCAAG	0.557																																																	0													102	96	98					2																	202216070		2203	4300	6503	SO:0001583	missense	0			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.58C>T	2.37:g.202216070G>A	ENSP00000286190:p.Arg20Trp		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	superfamily_t-SNARE	p.R20W	ENST00000286190.5	37	c.58	CCDS2346.1	2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877799	0.72294	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.59224	0.82;0.82;0.82;0.82;0.28	5.06	0.723	0.18231	.	0.317119	0.23103	N	0.051893	T	0.64034	0.2562	L	0.54323	1.7	0.23249	N	0.998047	D;D	0.76494	0.999;0.999	P;P	0.59288	0.855;0.855	T	0.58864	-0.7561	10	0.72032	D	0.01	-5.5698	11.659	0.51334	0.0:0.0:0.3819:0.6181	.	20;20	Q96Q35;G5E9S3	AL2SB_HUMAN;.	W	20	ENSP00000286190:R20W;ENSP00000385098:R20W;ENSP00000376086:R20W;ENSP00000412073:R20W;ENSP00000407585:R20W	ENSP00000286190:R20W	R	-	1	2	ALS2CR12	201924315	0.052000	0.20516	0.899000	0.35326	0.903000	0.53119	0.727000	0.25999	0.322000	0.23283	0.655000	0.94253	CGG	ALS2CR12	-	NULL	ENSG00000155749		0.557	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	ALS2CR12	HGNC	protein_coding	OTTHUMT00000256286.1	-	0	66	0	G	NM_139163		202216070	-1	tier1	-	no_errors	ENST00000286190	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.838	A	A	202216070	G	A	202216070	3	1	58	1	0	0	0	0	1	0	0	0	553	1144	40	1	1335	1	ALS2CR12	2	202216070	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3644851	202216070	40983303	398	14781											
BMPR2	659	genome.wustl.edu	37	chr2	203420804	203420804	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgtggtgacagtcaccAtgaatggtgtggcaggtaga	10	10	14	7	0	2	3	2	2	0	1	2	3	2	3	1	4	0	2	1	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:203420804A>G	ENST00000374580.4	+	12	2955	c.2416A>G	c.(2416-2418)Atg>Gtg	p.M806V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	806					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GACAGTCACCATGAATGGTGT	0.448																																																	0													84	78	80					2																	203420804		2203	4300	6503	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2416A>G	2.37:g.203420804A>G	ENSP00000363708:p.Met806Val		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M806V	ENST00000374580.4	37	c.2416	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	A	5.928	0.355296	0.11239	.	.	ENSG00000204217	ENST00000374580	D	0.88046	-2.33	5.73	4.59	0.56863	.	0.143971	0.64402	D	0.000001	T	0.73659	0.3615	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69727	-0.5067	10	0.39692	T	0.17	.	11.1633	0.48528	0.9287:0.0:0.0713:0.0	.	806	Q13873	BMPR2_HUMAN	V	806	ENSP00000363708:M806V	ENSP00000363708:M806V	M	+	1	0	BMPR2	203129049	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.034000	0.64152	2.197000	0.70478	0.533000	0.62120	ATG	BMPR2	-	NULL	ENSG00000204217		0.448	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	-	0	61	0	A	NM_001204		203420804	1	tier1	-	no_errors	ENST00000374580	ensembl	human	known	74_37	missense	42.86	28	21	SNP	1.000	G	G	203420804	A	G	203420804	3	3	58	1	0	0	0	0	1	0	0	0	1473	217	8	4	2462	4	BMPR2	2	203420804	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1204734	203420804	39778569	399	14782											
INO80D	54891	genome.wustl.edu	37	chr2	206882406	206882406	+	Frame_Shift_Del	DEL	T	T	-																															ctctgttgcagaacttaccaTttttttggcatgttcttcac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:206882406delT	ENST00000403263.1	-	8	1944	c.1540delA	c.(1540-1542)atgfs	p.M514fs		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GAACTTACCATTTTTTTGGCA	0.388																																																	0													79	78	78					2																	206882406		1842	4090	5932	SO:0001589	frameshift_variant	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1540delA	2.37:g.206882406delT	ENSP00000384198:p.Met514fs		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Frame_Shift_Del	DEL	NULL	p.M514fs	ENST00000403263.1	37	c.1540	CCDS46500.1	2																																																																																			INO80D	-	NULL	ENSG00000114933		0.388	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0	59	0	T	NM_017759		206882406	-1	tier1		no_errors	ENST00000403263	ensembl	human	known	74_37	frame_shift_del	40.35	34	23	DEL	1.000	-	-	206882406	T	-	206882406	7	5	58	1	0	1	0	1	0	0	0	0	7776	1493	52	0	1559	0	INO80D	2	206882406	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3461602	206882406	36316967	400	14783											
ZDBF2	57683	genome.wustl.edu	37	chr2	207172739	207172739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgttcagaaatgaatttgGattctggtttcttgggtcag	8	17	12	4	0	4	2	2	1	2	1	4	3	4	3	0	3	0	3	0	3	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:207172739G>T	ENST00000374423.3	+	5	3873	c.3487G>T	c.(3487-3489)Gat>Tat	p.D1163Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1163							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGAATTTGGATTCTGGTTT	0.373																																																	0													96	91	93					2																	207172739		1849	4095	5944	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3487G>T	2.37:g.207172739G>T	ENSP00000363545:p.Asp1163Tyr		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.D1163Y	ENST00000374423.3	37	c.3487	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933519	0.34096	.	.	ENSG00000204186	ENST00000374423	T	0.64803	-0.12	4.04	0.161	0.14977	.	.	.	.	.	T	0.66147	0.2760	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.53690	-0.8403	9	0.72032	D	0.01	.	3.847	0.08939	0.3253:0.2068:0.4679:0.0	.	1163	Q9HCK1	ZDBF2_HUMAN	Y	1163	ENSP00000363545:D1163Y	ENSP00000363545:D1163Y	D	+	1	0	ZDBF2	206880984	0.949000	0.32298	0.009000	0.14445	0.002000	0.02628	-0.097000	0.11042	0.008000	0.14787	-0.145000	0.13849	GAT	ZDBF2	-	NULL	ENSG00000204186		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	-	0	41	0	G	NM_020923		207172739	1	tier1	-	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.014	T	T	207172739	G	T	207172739	3	4	58	1	0	0	0	0	1	0	0	0	17647	1174	41	3	3497	3	ZDBF2	2	207172739	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	290333	207172739	36026634	401	14784											
ADAM23	8745	genome.wustl.edu	37	chr2	207460861	207460861	+	Frame_Shift_Del	DEL	C	C	-																															gatccagttaggaaccttcaCccccccaaggatgaaggacc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:207460861delC	ENST00000264377.3	+	24	2662	c.2334delC	c.(2332-2334)cacfs	p.H778fs	ADAM23_ENST00000374416.1_Frame_Shift_Del_p.H778fs|ADAM23_ENST00000374415.3_Frame_Shift_Del_p.H778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGAACCTTCACCCCCCCAAGG	0.453																																					Melanoma(194;1127 2130 19620 24042 27855)												2	Insertion - Frameshift(2)	ovary(2)											92	75	81					2																	207460861		2203	4300	6503	SO:0001589	frameshift_variant	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"ADAM metallopeptidase domain containing"	202	protein-coding gene	gene with protein product		603710	"a disintegrin and metalloproteinase domain 23"			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2334delC	2.37:g.207460861delC	ENSP00000264377:p.His778fs		A2RU59	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K781fs	ENST00000264377.3	37	c.2334	CCDS2369.1	2																																																																																			ADAM23	-	NULL	ENSG00000114948		0.453	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2		0	74	0	C	NM_003812		207460861	1	tier1		no_errors	ENST00000264377	ensembl	human	known	74_37	frame_shift_del	67.80	19	40	DEL	0.000	-	-	207460861	C	-	207460861	7	5	58	1	0	1	0	1	0	0	0	0	245	506	18	0	2428	0	ADAM23	2	207460861	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	288122	207460861	35738512	402	14785											
MDH1B	130752	genome.wustl.edu	37	chr2	207620188	207620188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaacacttcgccactcGtcaatatgggaattaggttg	11	11	8	11	2	1	0	1	0	0	0	4	1	2	1	2	2	1	1	2	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:207620188G>A	ENST00000374412.3	-	5	730	c.455C>T	c.(454-456)aCg>aTg	p.T152M	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.T54M|MDH1B_ENST00000454776.2_Missense_Mutation_p.T152M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	152					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCGCCACTCGTCAATATGGG	0.433																																					Pancreas(76;29 1355 28675 37177 51207)												0													78	72	74					2																	207620188		2203	4300	6503	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.455C>T	2.37:g.207620188G>A	ENSP00000363533:p.Thr152Met		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.T152M	ENST00000374412.3	37	c.455	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849379	0.32699	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.41400	1.0;1.0;1.0	6.06	1.16	0.20824	NAD(P)-binding domain (1);	0.784649	0.12855	N	0.433605	T	0.40670	0.1126	L	0.51422	1.61	0.09310	N	1	P;P	0.45957	0.869;0.793	P;B	0.44696	0.458;0.27	T	0.26985	-1.0087	10	0.87932	D	0	-0.4804	10.1941	0.43043	0.3251:0.0:0.6749:0.0	.	152;152	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	M	152;54;152	ENSP00000363533:T152M;ENSP00000416577:T54M;ENSP00000389916:T152M	ENSP00000363533:T152M	T	-	2	0	MDH1B	207328433	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.064000	0.30579	0.149000	0.19098	-0.142000	0.14014	ACG	MDH1B	-	NULL	ENSG00000138400		0.433	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	-	0	40	0	G	NM_001039845		207620188	-1	tier1	-	no_errors	ENST00000374412	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.001	A	A	207620188	G	A	207620188	3	1	58	1	0	0	0	0	1	0	0	0	9447	1145	40	1	1133	1	MDH1B	2	207620188	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	159327	207620188	35579185	403	14786											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209190598	209190598	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagagaccctctacaggaTgacactggattatatgttac	12	13	8	8	0	1	2	0	1	1	1	1	5	1	4	1	2	2	1	1	2	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:209190598T>G	ENST00000264380.4	+	20	3221	c.3063T>G	c.(3061-3063)gaT>gaG	p.D1021E		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1021					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTCTACAGGATGACACTGGAT	0.438																																																	0													92	96	95					2																	209190598		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3063T>G	2.37:g.209190598T>G	ENSP00000264380:p.Asp1021Glu		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.D1021E	ENST00000264380.4	37	c.3063	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	T	12.35	1.912464	0.33721	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.30182	1.54;1.66	6.17	3.64	0.41730	.	0.126768	0.51477	D	0.000083	T	0.48077	0.1480	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.994;0.999	D;P	0.72625	0.978;0.883	T	0.37478	-0.9704	10	0.21014	T	0.42	-20.0355	9.3001	0.37840	0.0:0.166:0.0:0.834	.	1021;965	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	E	1021;597;965	ENSP00000264380:D1021E;ENSP00000405736:D965E	ENSP00000264380:D1021E	D	+	3	2	PIKFYVE	208898843	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	1.143000	0.31553	0.472000	0.27344	-0.250000	0.11733	GAT	PIKFYVE	-	NULL	ENSG00000115020		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	-	0	38	0	T	NM_015040		209190598	1	tier1	-	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	G	G	209190598	T	G	209190598	3	3	58	1	0	0	0	0	1	0	0	0	11963	1461	51	4	3148	4	PIKFYVE	2	209190598	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1570410	209190598	34008775	404	14787											
ERBB4	2066	genome.wustl.edu	37	chr2	212989493	212989493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccgcaggaaggagaggTcccggttgtgctcaatgctg	8	9	14	10	2	1	1	1	0	0	1	2	3	2	2	2	4	3	4	2	4	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:212989493T>C	ENST00000342788.4	-	2	528	c.218A>G	c.(217-219)gAc>gGc	p.D73G	ERBB4_ENST00000436443.1_Missense_Mutation_p.D73G|ERBB4_ENST00000402597.1_Missense_Mutation_p.D73G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	73					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAAGGAGAGGTCCCGGTTGTG	0.512										TSP Lung(8;0.080)																																							0													140	122	128					2																	212989493		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.218A>G	2.37:g.212989493T>C	ENSP00000342235:p.Asp73Gly		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D73G	ENST00000342788.4	37	c.218	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.569396|4.569396	0.86439|0.86439	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846|ENST00000260943	T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39|.	5.43|5.43	5.43|5.43	0.79202|0.79202	EGF receptor, L domain (1);|.	0.115357|.	0.64402|.	D|.	0.000008|.	T|T	0.72558|0.72558	0.3475|0.3475	M|M	0.66560|0.66560	2.04|2.04	0.50313|0.50313	D|D	0.999869|0.999869	B;D;B;B|.	0.56035|.	0.169;0.974;0.169;0.203|.	B;P;B;B|.	0.60236|.	0.101;0.871;0.101;0.163|.	T|T	0.72312|0.72312	-0.4331|-0.4331	10|5	0.72032|.	D|.	0.01|.	.|.	15.4814|15.4814	0.75530|0.75530	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	73;73;73;73|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	G|A	73;73;73;14|73	ENSP00000342235:D73G;ENSP00000403204:D73G;ENSP00000385565:D73G;ENSP00000405564:D14G|.	ENSP00000342235:D73G|.	D|T	-|-	2|1	0|0	ERBB4|ERBB4	212697738|212697738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.990000|7.990000	0.88215|0.88215	2.061000|2.061000	0.61500|0.61500	0.533000|0.533000	0.62120|0.62120	GAC|ACC	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.512	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	43	0	T	NM_001042599		212989493	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	55.56	16	20	SNP	1.000	C	C	212989493	T	C	212989493	3	2	58	1	0	0	0	0	1	0	0	0	5225	1667	58	4	3816	4	ERBB4	2	212989493	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3798895	212989493	30209880	405	14788											
ABCA12	26154	genome.wustl.edu	37	chr2	215855716	215855716	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctctataagccaggcaaAgaaatggctgcaggagttca	14	8	10	9	0	2	1	1	0	1	1	3	2	2	2	1	3	2	4	1	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:215855716A>T	ENST00000272895.7	-	24	3553	c.3334T>A	c.(3334-3336)Ttt>Att	p.F1112I	ABCA12_ENST00000389661.4_Missense_Mutation_p.F794I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1112					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCCAGGCAAAGAAATGGCTG	0.363																																					Ovarian(66;664 1488 5121 34295)												0													75	78	77					2																	215855716		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3334T>A	2.37:g.215855716A>T	ENSP00000272895:p.Phe1112Ile		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F1112I	ENST00000272895.7	37	c.3334	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917010	0.52546	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.83591	-1.74;-1.74	5.39	5.39	0.77823	.	0.161726	0.44902	D	0.000404	T	0.76307	0.3969	L	0.45137	1.4	0.80722	D	1	P;B	0.39576	0.679;0.044	B;B	0.38327	0.271;0.073	T	0.74819	-0.3535	10	0.30854	T	0.27	.	11.4036	0.49885	0.8569:0.0:0.0:0.1431	.	1112;794	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	1112;794	ENSP00000272895:F1112I;ENSP00000374312:F794I	ENSP00000272895:F1112I	F	-	1	0	ABCA12	215563961	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.951000	0.63610	2.263000	0.75096	0.528000	0.53228	TTT	ABCA12	-	NULL	ENSG00000144452		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	15	0	A	NM_173076		215855716	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	56.25	7	9	SNP	1.000	T	T	215855716	A	T	215855716	3	4	58	1	0	0	0	0	1	0	0	0	30	72	3	5	4573	5	ABCA12	2	215855716	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2866223	215855716	27343657	406	14789											
XRCC5	7520	genome.wustl.edu	37	chr2	216986826	216986826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatggaagtggggacaGaggagatggcccctttcgct	10	7	17	7	1	0	3	0	0	0	3	1	7	0	6	2	6	0	1	2	6	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:216986826G>T	ENST00000392133.3	+	8	994	c.533G>T	c.(532-534)aGa>aTa	p.R178I	XRCC5_ENST00000392132.2_Missense_Mutation_p.R178I			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	178				R -> S (in Ref. 4; BAD96323). {ECO:0000305}.	brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AGTGGGGACAGAGGAGATGGC	0.443								Non-homologous end-joining																																									0													100	87	92					2																	216986826		2203	4300	6503	SO:0001583	missense	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.533G>T	2.37:g.216986826G>T	ENSP00000375978:p.Arg178Ile		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom	p.R178I	ENST00000392133.3	37	c.533	CCDS2402.1	2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584564	0.28268	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31247	1.5;1.5	5.09	2.07	0.26955	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.478362	0.22848	N	0.054886	T	0.30759	0.0775	L	0.51422	1.61	0.48288	D	0.999629	B	0.26318	0.146	B	0.31101	0.124	T	0.16689	-1.0394	10	0.31617	T	0.26	.	16.0651	0.80865	0.0:0.4548:0.5452:0.0	.	178	P13010	XRCC5_HUMAN	I	178	ENSP00000375978:R178I;ENSP00000375977:R178I	ENSP00000375977:R178I	R	+	2	0	XRCC5	216695071	0.956000	0.32656	0.999000	0.59377	0.341000	0.28922	0.393000	0.20817	0.821000	0.34540	0.650000	0.86243	AGA	XRCC5	-	pfam_Ku_N,smart_VWF_A	ENSG00000079246		0.443	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3		0	85	0	G	NM_021141		216986826	1			no_errors	ENST00000392132	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	216986826	G	T	216986826	3	4	58	1	0	0	0	0	1	0	0	0	17505	942	33	3	555	3	XRCC5	2	216986826	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1131110	216986826	26212547	407	14790											
USP37	57695	genome.wustl.edu	37	chr2	219344406	219344406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggctggtgatgcaggaaTtcaccatttgagaggctttc	10	11	13	7	0	1	2	1	2	0	1	2	4	1	3	1	4	1	3	1	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:219344406T>C	ENST00000258399.3	-	18	2280	c.1868A>G	c.(1867-1869)aAt>aGt	p.N623S	USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Intron|USP37_ENST00000454775.1_Missense_Mutation_p.N623S|USP37_ENST00000418019.1_Missense_Mutation_p.N623S	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	623	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GATGCAGGAATTCACCATTTG	0.299																																																	0													76	71	73					2																	219344406		2203	4300	6503	SO:0001583	missense	0			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"Ubiquitin-specific peptidases"	20063	protein-coding gene	gene with protein product			"ubiquitin specific protease 37"			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1868A>G	2.37:g.219344406T>C	ENSP00000258399:p.Asn623Ser		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.N623S	ENST00000258399.3	37	c.1868	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211375	0.39102	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000418019	T;T;T	0.44482	0.92;0.92;0.92	5.71	5.71	0.89125	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.095014	0.64402	D	0.000001	T	0.45895	0.1365	L	0.31664	0.95	0.80722	D	1	D	0.63046	0.992	P	0.61722	0.893	T	0.25467	-1.0131	10	0.09843	T	0.71	-26.2202	14.5549	0.68094	0.0:0.0:0.0:1.0	.	623	Q86T82	UBP37_HUMAN	S	623	ENSP00000258399:N623S;ENSP00000393662:N623S;ENSP00000396585:N623S	ENSP00000258399:N623S	N	-	2	0	USP37	219052650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.166000	0.64965	2.178000	0.69098	0.533000	0.62120	AAT	USP37	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000135913		0.299	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	-	0	26	0	T	NM_020935		219344406	-1	tier1	-	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	C	C	219344406	T	C	219344406	3	2	58	1	0	0	0	0	1	0	0	0	17117	1493	52	4	1107	4	USP37	2	219344406	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2357580	219344406	23854967	408	14791											
ABCB6	10058	genome.wustl.edu	37	chr2	220081123	220081123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccccctggaggaacttgagGaagacgtaactggtaacagt	12	7	12	10	1	0	2	0	1	0	1	0	5	0	5	3	4	3	2	3	4	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220081123G>T	ENST00000265316.3	-	4	1249	c.933C>A	c.(931-933)ttC>ttA	p.F311L	ABCB6_ENST00000439002.2_Missense_Mutation_p.F265L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	311	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAACTTGAGGAAGACGTAAC	0.562																																																	0													96	104	101					2																	220081123		2203	4300	6503	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"ATP binding cassette transporters / subfamily B"	47	protein-coding gene	gene with protein product	"ATP-binding cassette half-transporter"	605452	"ATP-binding cassette, sub-family B (MDR/TAP), member 6"			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.933C>A	2.37:g.220081123G>T	ENSP00000265316:p.Phe311Leu		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F311L	ENST00000265316.3	37	c.933	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.594|4.594	0.110395|0.110395	0.08780|0.08780	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.89343|.	-2.5;-2.5|.	5.17|5.17	2.29|2.29	0.28610|0.28610	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.251597|.	0.40554|.	N|.	0.001068|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.00873|0.00873	-1.125|-1.125	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.06972|0.06972	-1.0797|-1.0797	10|5	0.05525|.	T|.	0.97|.	-7.9332|-7.9332	2.4978|2.4978	0.04626|0.04626	0.2231:0.1359:0.5163:0.1248|0.2231:0.1359:0.5163:0.1248	.|.	265;311|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	L|Y	311;265|159	ENSP00000265316:F311L;ENSP00000394333:F265L|.	ENSP00000265316:F311L|.	F|S	-|-	3|2	2|0	ABCB6|ABCB6	219789367|219789367	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.675000|0.675000	0.25232|0.25232	0.767000|0.767000	0.33267|0.33267	-0.157000|-0.157000	0.13467|0.13467	TTC|TCC	ABCB6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000115657		0.562	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	-	0	59	0	G	NM_005689		220081123	-1	tier1	-	no_errors	ENST00000265316	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.996	T	T	220081123	G	T	220081123	3	4	58	1	0	0	0	0	1	0	0	0	45	1165	41	3	1659	3	ABCB6	2	220081123	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	736717	220081123	23118250	409	14792											
ATG9A	79065	genome.wustl.edu	37	chr2	220089461	220089461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttctggaaacggaggatgCggtggtagatgtccagttct	9	11	15	6	2	2	1	0	0	2	1	3	4	3	4	1	5	2	3	1	5	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220089461C>T	ENST00000409618.1	-	8	1071	c.632G>A	c.(631-633)cGc>cAc	p.R211H	ATG9A_ENST00000361242.4_Missense_Mutation_p.R211H|ATG9A_ENST00000409422.1_Missense_Mutation_p.R150H|ATG9A_ENST00000396761.2_Missense_Mutation_p.R211H|ATG9A_ENST00000488833.1_5'Flank|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	211					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGAGGATGCGGTGGTAGAT	0.577																																																	0													111	115	114					2																	220089461		2135	4241	6376	SO:0001583	missense	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)"	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.632G>A	2.37:g.220089461C>T	ENSP00000386710:p.Arg211His		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.R211H	ENST00000409618.1	37	c.632	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459983	0.84317	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715	T;T;T;T	0.58060	0.76;0.76;0.76;0.36	5.28	5.28	0.74379	.	0.054691	0.64402	D	0.000001	T	0.78767	0.4335	H	0.95187	3.635	0.80722	D	1	D	0.65815	0.995	P	0.57960	0.83	D	0.86010	0.1500	10	0.87932	D	0	.	18.5132	0.90925	0.0:1.0:0.0:0.0	.	211	Q7Z3C6	ATG9A_HUMAN	H	211;211;211;150;115	ENSP00000379983:R211H;ENSP00000386710:R211H;ENSP00000355173:R211H;ENSP00000386535:R150H	ENSP00000355173:R211H	R	-	2	0	ATG9A	219797705	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.780000	0.85658	2.449000	0.82847	0.655000	0.94253	CGC	ATG9A	-	pfam_Autophagy-rel_prot_9	ENSG00000198925		0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	-	0	38	0	C	NM_024085		220089461	-1	tier1	-	no_errors	ENST00000361242	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	T	T	220089461	C	T	220089461	3	4	58	1	0	0	0	0	1	0	0	0	1103	768	27	1	1923	1	ATG9A	2	220089461	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8338	220089461	23109912	410	14793											
DNAJB2	3300	genome.wustl.edu	37	chr2	220149370	220149370	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgtcccagatgacctGgcactgggcttggagctgag	7	8	16	10	0	0	3	0	2	0	1	1	4	1	4	2	4	1	4	2	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220149370G>T	ENST00000336576.5	+	9	924	c.636G>T	c.(634-636)ctG>ctT	p.L212L	DNAJB2_ENST00000392086.4_Silent_p.L212L|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	212					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATGACCTGGCACTGGGCT	0.627																																																	0													38	42	41					2																	220149370		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"Heat shock proteins / DNAJ (HSP40)"	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.636G>T	2.37:g.220149370G>T			A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L212	ENST00000336576.5	37	c.636	CCDS2439.1	2																																																																																			DNAJB2	-	smart_Ubiquitin-int_motif	ENSG00000135924		0.627	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	-	0	80	0	G			220149370	1	tier1	-	no_errors	ENST00000336576	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T	T	220149370	G	T	220149370	2	4	58	1	0	0	0	0	0	0	0	1	4634	1335	47	3		3	DNAJB2	2	220149370	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	59909	220149370	23050003	411	14794											
PTPRN	5798	genome.wustl.edu	37	chr2	220173969	220173969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacggcgctgcagccccccGggcggctgctcagcagcagg	6	4	15	16	4	1	0	1	0	0	0	1	0	1	0	3	4	6	6	3	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220173969G>A	ENST00000295718.2	-	1	326	c.86C>T	c.(85-87)cCg>cTg	p.P29L	PTPRN_ENST00000423636.2_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.P29L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	29					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCAGCCCCCCGGGCGGCTGCT	0.736																																																	0													3	3	3					2																	220173969		1869	3814	5683	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.86C>T	2.37:g.220173969G>A	ENSP00000295718:p.Pro29Leu		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P29L	ENST00000295718.2	37	c.86	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699976	0.48307	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579	T;T	0.03635	3.86;3.88	3.78	1.67	0.24075	.	0.401033	0.18400	N	0.142390	T	0.02727	0.0082	L	0.28458	0.855	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46303	-0.9201	10	0.48119	T	0.1	.	3.4931	0.07645	0.1336:0.0:0.4137:0.4527	.	29;29	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	29	ENSP00000386638:P29L;ENSP00000295718:P29L	ENSP00000295718:P29L	P	-	2	0	PTPRN	219882213	0.288000	0.24324	1.000000	0.80357	0.959000	0.62525	0.198000	0.17217	0.749000	0.32854	0.313000	0.20887	CCG	PTPRN	-	NULL	ENSG00000054356		0.736	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2		0	22	0	G			220173969	-1			no_errors	ENST00000295718	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.991	A	A	220173969	G	A	220173969	3	1	58	1	0	0	0	0	1	0	0	0	12852	1116	39	1	2945	1	PTPRN	2	220173969	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	24599	220173969	23025404	412	14795											
SPEG	10290	genome.wustl.edu	37	chr2	220348876	220348876	+	Frame_Shift_Del	DEL	C	C	-																															gagcctccaagcctgcaccaCccccccaggccctgcaaacc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220348876delC	ENST00000312358.7	+	30	6823	c.6691delC	c.(6691-6693)cccfs	p.P2232fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2232	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTGCACCACCCCCCCAGGC	0.677																																																	0										15,3729		3,9,1860	24	36	32			-0.7	0	2		32	40,7784		11,18,3883	no	frameshift	SPEG	NM_005876.4		14,27,5743	A1A1,A1R,RR		0.5112,0.4006,0.4754			220348876	55,11513	1993	4122	6115	SO:0001589	frameshift_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6691delC	2.37:g.220348876delC	ENSP00000311684:p.Pro2232fs		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q2233fs	ENST00000312358.7	37	c.6691	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.677	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2		0	58	0	C	NM_005876		220348876	1	tier1		no_errors	ENST00000312358	ensembl	human	novel	74_37	frame_shift_del	33.33	34	17	DEL	0.034	-	-	220348876	C	-	220348876	7	5	58	1	0	1	0	1	0	0	0	0	15083	507	18	0	6821	0	SPEG	2	220348876	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	174907	220348876	22850497	413	14796											
OBSL1	23363	genome.wustl.edu	37	chr2	220416864	220416864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagagccagggactgggCgggccccgcctggaagcgga	8	3	18	12	3	0	1	0	0	0	1	0	4	0	4	4	5	2	1	4	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220416864C>T	ENST00000404537.1	-	19	5439	c.5383G>A	c.(5383-5385)Gcc>Acc	p.A1795T	MIR3132_ENST00000581997.1_RNA|OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.A1703T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1795	Ig-like 14.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGGACTGGGCGGGCCCCGCC	0.642																																																	0													15	17	17					2																	220416864		1907	4092	5999	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5383G>A	2.37:g.220416864C>T	ENSP00000385636:p.Ala1795Thr		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1795T	ENST00000404537.1	37	c.5383	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480192	0.63849	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.44881	0.91;0.91	4.86	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45337	0.1337	L	0.43598	1.365	0.80722	D	1	D	0.59767	0.986	P	0.57204	0.815	T	0.15867	-1.0422	9	0.13853	T	0.58	.	11.1203	0.48287	0.0:0.9106:0.0:0.0894	.	1795	O75147	OBSL1_HUMAN	T	1795;1703	ENSP00000385636:A1795T;ENSP00000362983:A1703T	ENSP00000362983:A1703T	A	-	1	0	OBSL1	220125108	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.133000	0.42093	2.516000	0.84829	0.655000	0.94253	GCC	OBSL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000124006		0.642	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0	19	0	C			220416864	-1	tier1	-	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	50.00	9	9	SNP	1.000	T	T	220416864	C	T	220416864	3	4	58	1	0	0	0	0	1	0	0	0	10852	768	27	1	319	1	OBSL1	2	220416864	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	67988	220416864	22782509	414	14797											
OBSL1	23363	genome.wustl.edu	37	chr2	220432447	220432447	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgccctcacattttacTctgagaagcgtagtggtacg	8	13	9	11	2	2	1	1	1	1	1	3	2	3	1	2	1	4	2	2	1	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220432447T>G	ENST00000404537.1	-	3	1583	c.1527A>C	c.(1525-1527)agA>agC	p.R509S	OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000289656.3_Missense_Mutation_p.R96S|OBSL1_ENST00000265318.4_Missense_Mutation_p.R509S|OBSL1_ENST00000373876.1_Missense_Mutation_p.R509S|OBSL1_ENST00000373873.4_Missense_Mutation_p.R509S|OBSL1_ENST00000603926.1_Missense_Mutation_p.R509S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	509					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CACATTTTACTCTGAGAAGCG	0.597																																																	0													52	58	56					2																	220432447		2120	4217	6337	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1527A>C	2.37:g.220432447T>G	ENSP00000385636:p.Arg509Ser		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R509S	ENST00000404537.1	37	c.1527	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352276	0.41700	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.55	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83128	0.5187	M	0.69823	2.125	0.42717	D	0.993667	D;P;D	0.89917	0.991;0.948;1.0	D;P;D	0.91635	0.992;0.666;0.999	T	0.81549	-0.0882	9	0.40728	T	0.16	.	4.3802	0.11290	0.2434:0.1027:0.0:0.6539	.	509;96;509	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	S	509;509;509;509;96	ENSP00000265318:R509S;ENSP00000385636:R509S;ENSP00000362983:R509S;ENSP00000362980:R509S;ENSP00000289656:R96S	ENSP00000265318:R509S	R	-	3	2	OBSL1	220140691	0.991000	0.36638	1.000000	0.80357	0.483000	0.33249	0.150000	0.16263	1.904000	0.55121	0.397000	0.26171	AGA	OBSL1	-	smart_Ig_sub	ENSG00000124006		0.597	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0	80	0	T			220432447	-1	tier1	-	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	43.33	34	26	SNP	0.981	G	G	220432447	T	G	220432447	3	3	58	1	0	0	0	0	1	0	0	0	10852	1548	54	4	4391	4	OBSL1	2	220432447	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	15583	220432447	22766926	415	14798											
WDFY1	57590	genome.wustl.edu	37	chr2	224770667	224770667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtgtattataattacctgGgtaggtcttgataaagttca	12	16	9	4	0	2	1	1	1	1	0	2	1	2	1	1	2	1	3	1	2	7	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:224770667G>T	ENST00000233055.4	-	4	433	c.331C>A	c.(331-333)Cca>Aca	p.P111T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	111						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TAATTACCTGGGTAGGTCTTG	0.264																																																	0													96	99	98					2																	224770667		2200	4294	6494	SO:0001583	missense	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.331C>A	2.37:g.224770667G>T	ENSP00000233055:p.Pro111Thr		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P111T	ENST00000233055.4	37	c.331	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375043	0.42105	.	.	ENSG00000085449	ENST00000233055	T	0.27890	1.64	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.14476	-1.0471	10	0.13470	T	0.59	.	18.4875	0.90835	0.0:0.0:1.0:0.0	.	111	Q8IWB7	WDFY1_HUMAN	T	111	ENSP00000233055:P111T	ENSP00000233055:P111T	P	-	1	0	WDFY1	224478911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.682000	0.84083	2.683000	0.91414	0.555000	0.69702	CCA	WDFY1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085449		0.264	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	-	0	63	0	G	NM_020830		224770667	-1	tier1	-	no_errors	ENST00000233055	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T	T	224770667	G	T	224770667	3	4	58	1	0	0	0	0	1	0	0	0	17317	1232	43	3	937	3	WDFY1	2	224770667	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4338220	224770667	18428706	416	14799											
DOCK10	55619	genome.wustl.edu	37	chr2	225781494	225781494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggatatcccaggaaactGtggctgcctgaaacgaacaa	13	7	11	10	2	0	1	0	1	0	0	1	4	1	3	2	3	5	1	2	3	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:225781494G>T	ENST00000258390.7	-	3	318	c.251C>A	c.(250-252)aCa>aAa	p.T84K	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Missense_Mutation_p.T78K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	84					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAGGAAACTGTGGCTGCCTG	0.448																																																	0													71	68	69					2																	225781494		1953	4155	6108	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.251C>A	2.37:g.225781494G>T	ENSP00000258390:p.Thr84Lys		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T84K	ENST00000258390.7	37	c.251	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570612	0.45798	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.47177	0.85;0.85	5.45	5.45	0.79879	.	0.051947	0.85682	D	0.000000	T	0.53417	0.1795	M	0.68593	2.085	0.39944	D	0.974457	P;P;P	0.44195	0.571;0.828;0.571	B;P;B	0.45232	0.243;0.474;0.403	T	0.57195	-0.7853	10	0.42905	T	0.14	.	16.2746	0.82638	0.0:0.0:1.0:0.0	.	84;84;78	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	K	78;84	ENSP00000386694:T78K;ENSP00000258390:T84K	ENSP00000258390:T84K	T	-	2	0	DOCK10	225489738	0.999000	0.42202	0.970000	0.41538	0.519000	0.34347	3.292000	0.51772	2.588000	0.87417	0.539000	0.68188	ACA	DOCK10	-	pfam_DOCK_C/D_N	ENSG00000135905		0.448	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0	60	0	G			225781494	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.994	T	T	225781494	G	T	225781494	3	4	58	1	0	0	0	0	1	0	0	0	4699	1377	48	3	6525	3	DOCK10	2	225781494	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1010827	225781494	17417879	417	14800											
IRS1	3667	genome.wustl.edu	37	chr2	227663183	227663183	+	Missense_Mutation	SNP	T	T	C																															ccgccgcgatggcaaagtgcTcgtcccgggtgtagagagcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:227663183T>C	ENST00000305123.5	-	1	1292	c.272A>G	c.(271-273)gAg>gGg	p.E91G	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	91	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGCAAAGTGCTCGTCCCGGGT	0.617																																																	0													78	94	89					2																	227663183		2203	4300	6503	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.272A>G	2.37:g.227663183T>C	ENSP00000304895:p.Glu91Gly			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.E91G	ENST00000305123.5	37	c.272	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204262	0.79127	.	.	ENSG00000169047	ENST00000305123	T	0.71934	-0.61	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000010	T	0.81465	0.4828	L	0.56769	1.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.81735	-0.0797	10	0.48119	T	0.1	-20.5559	15.5462	0.76101	0.0:0.0:0.0:1.0	.	91	P35568	IRS1_HUMAN	G	91	ENSP00000304895:E91G	ENSP00000304895:E91G	E	-	2	0	IRS1	227371427	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.992000	0.88273	2.208000	0.71279	0.459000	0.35465	GAG	IRS1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000169047		0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	-	0	79	0	T	NM_005544		227663183	-1	tier1	-	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	50.62	40	41	SNP	1.000	C	C	227663183	T	C	227663183	3	2	58	1	0	0	0	0	1	0	0	0	7867	1551	54	4	3460	4	IRS1	2	227663183	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1881689	227663183	15536190	418	14801	61	2									
IRS1	3667	genome.wustl.edu	37	chr2	227663189	227663189	+	Missense_Mutation	SNP	C	C	T																															cgatggcaaagtgctcgtccCgggtgtagagagccaccagg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:227663189C>T	ENST00000305123.5	-	1	1286	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	89	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCTCGTCCCGGGTGTAGAG	0.612																																																	0													80	97	91					2																	227663189		2203	4300	6503	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.266G>A	2.37:g.227663189C>T	ENSP00000304895:p.Arg89Gln			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.R89Q	ENST00000305123.5	37	c.266	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311020	0.81358	.	.	ENSG00000169047	ENST00000305123	T	0.72167	-0.63	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.110656	0.36778	N	0.002410	T	0.63920	0.2552	L	0.31926	0.97	0.49213	D	0.999763	D	0.59357	0.985	P	0.48873	0.593	T	0.66424	-0.5927	10	0.62326	D	0.03	-13.8664	7.8555	0.29480	0.0:0.8026:0.0:0.1974	.	89	P35568	IRS1_HUMAN	Q	89	ENSP00000304895:R89Q	ENSP00000304895:R89Q	R	-	2	0	IRS1	227371433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.943000	0.63554	2.735000	0.93741	0.561000	0.74099	CGG	IRS1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000169047		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	-	0	89	0	C	NM_005544		227663189	-1	tier1	-	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	33.33	56	28	SNP	1.000	T	T	227663189	C	T	227663189	3	4	58	1	0	0	0	0	1	0	0	0	7867	652	23	1	3466	1	IRS1	2	227663189	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6	227663189	15536184	419	14802	61	2									
SPHKAP	80309	genome.wustl.edu	37	chr2	228882440	228882440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttaggttcatgatcttggCtgccacttcattggcaaaaa	10	13	9	9	1	3	1	2	1	1	0	3	1	3	1	1	3	1	4	1	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:228882440C>A	ENST00000392056.3	-	7	3176	c.3130G>T	c.(3130-3132)Gcc>Tcc	p.A1044S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1044S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1044						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGATCTTGGCTGCCACTTCA	0.517																																																	0													87	81	83					2																	228882440		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3130G>T	2.37:g.228882440C>A	ENSP00000375909:p.Ala1044Ser		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.A1044S	ENST00000392056.3	37	c.3130	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782464	0.90282	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.21361	2.04;2.01	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.07158	-1.0787	10	0.87932	D	0	-22.2793	19.6516	0.95815	0.0:1.0:0.0:0.0	.	75;1044;1044	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1044	ENSP00000375909:A1044S;ENSP00000339886:A1044S	ENSP00000339886:A1044S	A	-	1	0	SPHKAP	228590684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.266000	0.58871	2.894000	0.99253	0.655000	0.94253	GCC	SPHKAP	-	NULL	ENSG00000153820		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	21	0	C	NM_030623		228882440	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	A	A	228882440	C	A	228882440	3	1	58	1	0	0	0	0	1	0	0	0	15095	797	28	3	1996	3	SPHKAP	2	228882440	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1219251	228882440	14316933	420	14803											
TRIP12	9320	genome.wustl.edu	37	chr2	230636243	230636243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagctactcacttcctccgGgtagaagtactgaagatgac	12	10	9	10	1	1	4	1	2	0	2	3	4	3	4	2	1	3	3	2	1	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230636243G>T	ENST00000283943.5	-	38	5753	c.5575C>A	c.(5575-5577)Ccg>Acg	p.P1859T	TRIP12_ENST00000389044.4_Missense_Mutation_p.P1907T|TRIP12_ENST00000389045.3_Missense_Mutation_p.P1589T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1859					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTTCCTCCGGGTAGAAGTAC	0.398																																																	0													66	65	65					2																	230636243		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5575C>A	2.37:g.230636243G>T	ENSP00000283943:p.Pro1859Thr		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.P1859T	ENST00000283943.5	37	c.5575	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614716	0.87359	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.50001	0.76;0.76;0.76	5.64	5.64	0.86602	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.70842	2.15	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.72272	-0.4342	10	0.87932	D	0	.	19.6967	0.96029	0.0:0.0:1.0:0.0	.	1589;1907;1859	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	1859;1589;1907	ENSP00000283943:P1859T;ENSP00000373697:P1589T;ENSP00000373696:P1907T	ENSP00000283943:P1859T	P	-	1	0	TRIP12	230344487	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.257000	0.95545	2.658000	0.90341	0.563000	0.77884	CCG	TRIP12	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000153827		0.398	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3		0	26	0	G	NM_004238		230636243	-1			no_errors	ENST00000283943	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	230636243	G	T	230636243	3	4	58	1	0	0	0	0	1	0	0	0	16604	1232	43	3	419	3	TRIP12	2	230636243	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1753803	230636243	12563130	421	14804											
TRIP12	9320	genome.wustl.edu	37	chr2	230668381	230668381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actactatcttcaggtcttgGcttgacagcatggaagcaat	11	12	9	9	0	3	1	1	1	2	0	3	2	3	2	0	3	3	3	0	3	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230668381G>A	ENST00000283943.5	-	19	2857	c.2679C>T	c.(2677-2679)agC>agT	p.S893S	TRIP12_ENST00000389044.4_Silent_p.S941S|TRIP12_ENST00000389045.3_Silent_p.S623S|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	893					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCAGGTCTTGGCTTGACAGCA	0.343																																																	0													77	77	77					2																	230668381		2203	4300	6503	SO:0001819	synonymous_variant	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2679C>T	2.37:g.230668381G>A			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.S893	ENST00000283943.5	37	c.2679	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0	50	0	G	NM_004238		230668381	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	A	A	230668381	G	A	230668381	2	1	58	1	0	0	0	0	0	0	0	1	16604	1194	42	3		3	TRIP12	2	230668381	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	32138	230668381	12530992	422	14805											
TRIP12	9320	genome.wustl.edu	37	chr2	230672543	230672544	+	Frame_Shift_Ins	INS	-	-	A																															ttcaacatggtatcaactgcINSaaaaatgccttcttttggta																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230672543_230672544insA	ENST00000283943.5	-	16	2410_2411	c.2232_2233insT	c.(2230-2235)tttgcafs	p.A745fs	TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.A793fs|TRIP12_ENST00000389045.3_Frame_Shift_Ins_p.A448fs|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	745					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTATCAACTGCAAAAATGCCTT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2233dupT	2.37:g.230672548_230672548dupA	ENSP00000283943:p.Ala745fs		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.A744fs	ENST00000283943.5	37	c.2233_2232	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.381	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3		0	65	0	-	NM_004238		230672544	-1	tier1		no_errors	ENST00000283943	ensembl	human	known	74_37	frame_shift_ins	36.07	39	22	INS	1.000:1.000	A	A	230672544	-	A	230672543	7	5	58	1	0	1	1	0	0	0	0	0	16604	710	25	0	3849	0	TRIP12	2	230672543	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	4162	230672543	12526830	423	14806											
SLC16A14	151473	genome.wustl.edu	37	chr2	230910833	230910833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaattgacgatttctgggaGgtgaatgaaggggatgacaa	14	9	14	4	1	1	4	0	4	1	0	1	7	1	6	0	4	0	0	0	4	4	2	rs201567975	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230910833G>T	ENST00000295190.4	-	4	1467	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ATTTCTGGGAGGTGAATGAAG	0.398																																																	0													67	66	66					2																	230910833		2203	4300	6503	SO:0001583	missense	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1009C>A	2.37:g.230910833G>T	ENSP00000295190:p.Leu337Ile		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L337I	ENST00000295190.4	37	c.1009	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366388	0.61513	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.61040	0.14;0.14;0.14	4.84	4.84	0.62591	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000052	T	0.66944	0.2841	L	0.52126	1.63	0.46609	D	0.999121	P;P	0.46064	0.747;0.872	P;P	0.56563	0.759;0.801	T	0.61946	-0.6958	10	0.27082	T	0.32	.	18.1364	0.89620	0.0:0.0:1.0:0.0	.	337;337	E7EMG7;Q7RTX9	.;MOT14_HUMAN	I	337	ENSP00000295190:L337I;ENSP00000400352:L337I;ENSP00000395775:L337I	ENSP00000295190:L337I	L	-	1	0	SLC16A14	230619077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.218000	0.58554	2.509000	0.84616	0.561000	0.74099	CTC	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.398	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	-	0	34	0	G	NM_152527		230910833	-1	tier1	-	no_errors	ENST00000295190	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	230910833	G	T	230910833	3	4	58	1	0	0	0	0	1	0	0	0	14452	1000	35	3	531	3	SLC16A14	2	230910833	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	238290	230910833	12288540	424	14807											
SP110	3431	genome.wustl.edu	37	chr2	231037655	231037655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccttgacagcacacctcGcattcatccgagtttttccg	7	11	6	17	3	1	1	1	1	0	0	4	2	3	1	5	0	1	3	5	0	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:231037655G>A	ENST00000358662.4	-	15	1689	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000600787.1_RNA|SP110_ENST00000258381.6_Silent_p.C537C|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000454058.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	537					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.C537C(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGCACACCTCGCATTCATCCG	0.562																																																	1	Substitution - coding silent(1)	large_intestine(1)											141	100	114					2																	231037655		2203	4300	6503	SO:0001819	synonymous_variant	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"interferon-induced protein 41, 30kD"	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1611C>T	2.37:g.231037655G>A			B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.C537	ENST00000358662.4	37	c.1611	CCDS2474.1	2																																																																																			SP110	-	superfamily_SAND_dom-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000135899		0.562	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	-	0	39	0	G	NM_080424		231037655	-1	tier1	-	no_errors	ENST00000258381	ensembl	human	known	74_37	silent	41.67	28	20	SNP	0.866	A	A	231037655	G	A	231037655	2	1	58	1	0	0	0	0	0	0	0	1	15006	1079	38	1		1	SP110	2	231037655	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	126822	231037655	12161718	425	14808											
SP100	6672	genome.wustl.edu	37	chr2	231371095	231371095	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaattgaaggagaccgcGgagcatccaagaactggaag	15	6	13	7	2	0	4	0	2	0	2	1	7	1	6	2	3	2	1	2	3	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:231371095G>T	ENST00000264052.5	+	22	2303	c.1948G>T	c.(1948-1950)Gga>Tga	p.G650*	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Nonsense_Mutation_p.G650*|SP100_ENST00000340126.4_Nonsense_Mutation_p.G650*	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	650	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGACCGCGGAGCATCCAA	0.453																																																	0													77	76	77					2																	231371095		2203	4300	6503	SO:0001587	stop_gained	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1948G>T	2.37:g.231371095G>T	ENSP00000264052:p.Gly650*		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Nonsense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.G650*	ENST00000264052.5	37	c.1948	CCDS2477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.968251|6.968251	0.97971|0.97971	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648|ENST00000431952	.|T	.|0.73047	.|-0.71	4.65|4.65	-0.449|-0.449	0.12226|0.12226	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47451	.|0.1446	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.29579	.|-1.0007	.|6	0.30078|0.15499	T|T	0.28|0.54	.|.	3.899|3.899	0.09152|0.09152	0.3621:0.0:0.4793:0.1586|0.3621:0.0:0.4793:0.1586	.|.	.|.	.|.	.|.	X|L	650;650;650;133|36	.|ENSP00000393679:R36L	ENSP00000264052:G650X|ENSP00000393679:R36L	G|R	+|+	1|2	0|0	SP100|SP100	231079339|231079339	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.194000|0.194000	0.17135|0.17135	-0.198000|-0.198000	0.10333|0.10333	-0.150000|-0.150000	0.13652|0.13652	GGA|CGG	SP100	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000067066		0.453	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2		0	24	0	G	NM_003113		231371095	1			no_errors	ENST00000340126	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.000	T	T	231371095	G	T	231371095	4	4	58	1	0	0	0	0	0	1	0	0	15005	1117	39	2	2034	2	SP100	2	231371095	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	333440	231371095	11828278	426	14809											
PSMD1	5707	genome.wustl.edu	37	chr2	231943429	231943429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatagcaaactcttttatGcactgtgggacaaccagtga	12	12	9	8	0	1	1	0	1	1	0	1	2	1	2	1	1	4	3	1	1	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:231943429G>T	ENST00000308696.6	+	10	1290	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	PSMD1_ENST00000409643.1_Missense_Mutation_p.M376I|PSMD1_ENST00000373635.4_Missense_Mutation_p.M376I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ACTCTTTTATGCACTGTGGGA	0.323																																																	0													122	119	120					2																	231943429		2203	4300	6503	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1128G>T	2.37:g.231943429G>T	ENSP00000309474:p.Met376Ile		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.M376I	ENST00000308696.6	37	c.1128	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.187231	0.94923	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.93106	3.38	0.80722	D	1	D;P	0.56035	0.974;0.928	P;P	0.48089	0.566;0.547	D	0.85467	0.1170	9	0.62326	D	0.03	-19.2855	20.0349	0.97554	0.0:0.0:1.0:0.0	.	376;376	Q99460;Q99460-2	PSMD1_HUMAN;.	I	376	.	ENSP00000309474:M376I	M	+	3	0	PSMD1	231651673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.744000	0.98853	2.741000	0.93983	0.585000	0.79938	ATG	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.323	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	-	0	84	0	G			231943429	1	tier1	-	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	5.21	91	5	SNP	1.000	T	T	231943429	G	T	231943429	3	4	58	1	0	0	0	0	1	0	0	0	12734	1319	46	3	1166	3	PSMD1	2	231943429	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	572334	231943429	11255944	427	14810											
B3GNT7	93010	genome.wustl.edu	37	chr2	232263177	232263177	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttcgtcaaccccaccaaCctgctagaatttctggctga	9	11	7	14	1	3	2	1	1	2	1	4	2	3	2	4	1	3	2	4	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:232263177C>T	ENST00000287590.5	+	2	1008	c.747C>T	c.(745-747)aaC>aaT	p.N249N		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	249					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ACCCCACCAACCTGCTAGAAT	0.552																																																	0													57	62	60					2																	232263177		2072	4189	6261	SO:0001819	synonymous_variant	0			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.747C>T	2.37:g.232263177C>T			B3KWY4|B7WNP0	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.N249	ENST00000287590.5	37	c.747	CCDS46540.1	2																																																																																			B3GNT7	-	pfam_Glyco_trans_31,pfam_Fringe-like	ENSG00000156966		0.552	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT7	HGNC	protein_coding	OTTHUMT00000332827.1	-	0	30	0	C	NM_145236		232263177	1	tier1	-	no_errors	ENST00000287590	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	T	T	232263177	C	T	232263177	2	4	58	1	0	0	0	0	0	0	0	1	1263	506	18	3		3	B3GNT7	2	232263177	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	319748	232263177	10936196	428	14811											
NCL	4691	genome.wustl.edu	37	chr2	232326561	232326561	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtggtaactgctttGgctggtgtaactgtcttctt	5	16	12	8	0	2	0	0	0	2	0	2	0	2	0	1	4	3	4	1	4	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:232326561G>T	ENST00000322723.4	-	3	543	c.303C>A	c.(301-303)gcC>gcA	p.A101A	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	101	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.A101A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TAACTGCTTTGGCTGGTGTAA	0.537																																																	1	Substitution - coding silent(1)	endometrium(1)											227	207	214					2																	232326561		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"RNA binding motif (RRM) containing"	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.303C>A	2.37:g.232326561G>T			Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.A101	ENST00000322723.4	37	c.303	CCDS33397.1	2																																																																																			NCL	-	NULL	ENSG00000115053		0.537	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	-	0	227	0	G	NM_005381		232326561	-1	tier1	-	no_errors	ENST00000322723	ensembl	human	known	74_37	silent	7.74	143	12	SNP	1.000	T	T	232326561	G	T	232326561	2	4	58	1	0	0	0	0	0	0	0	1	10265	1335	47	3		3	NCL	2	232326561	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	63384	232326561	10872812	429	14812											
ECEL1	9427	genome.wustl.edu	37	chr2	233350693	233350693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggttgaggtcccatcgcGccgcgacccccggacgctcc	4	5	13	19	7	0	1	0	1	0	0	3	3	2	2	6	3	0	2	6	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:233350693G>A	ENST00000304546.1	-	2	881	c.671C>T	c.(670-672)gCg>gTg	p.A224V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A224V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	224					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTCCCATCGCGCCGCGACCCC	0.711																																																	0													8	9	9					2																	233350693		2150	4211	6361	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.671C>T	2.37:g.233350693G>A	ENSP00000302051:p.Ala224Val		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A224V	ENST00000304546.1	37	c.671	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993562	0.19043	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.82344	-1.6;-1.6	5.01	2.94	0.34122	Peptidase M13 (1);	0.478641	0.19074	N	0.123437	T	0.64294	0.2585	N	0.08118	0	0.09310	N	1	B;B	0.30361	0.277;0.197	B;B	0.20577	0.03;0.027	T	0.58278	-0.7664	10	0.49607	T	0.09	-6.9187	10.7376	0.46135	0.0:0.2392:0.6258:0.135	.	224;224	O95672-2;O95672	.;ECEL1_HUMAN	V	224	ENSP00000302051:A224V;ENSP00000386333:A224V	ENSP00000302051:A224V	A	-	2	0	ECEL1	233058937	0.578000	0.26717	0.057000	0.19452	0.161000	0.22273	1.917000	0.39996	1.085000	0.41206	0.650000	0.86243	GCG	ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.711	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0	30	0	G	NM_004826		233350693	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.003	A	A	233350693	G	A	233350693	3	1	58	1	0	0	0	0	1	0	0	0	4905	1087	38	1	1724	1	ECEL1	2	233350693	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1024132	233350693	9848680	430	14813											
USP40	55230	genome.wustl.edu	37	chr2	234474223	234474223	+	5'UTR	DEL	A	A	-																															tgaaactaaatactacccttAaaaaaagtgacatataaatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:234474223delA	ENST00000427112.2	-	0	13				USP40_ENST00000251722.6_Intron|USP40_ENST00000450966.1_Frame_Shift_Del_p.L5fs|USP40_ENST00000443711.2_Intron			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACTACCCTTAAAAAAAGTGA	0.338																																																	0													57	44	48					2																	234474223		692	1590	2282	SO:0001623	5_prime_UTR_variant	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"Ubiquitin-specific peptidases"	20069	protein-coding gene	gene with protein product		610570	"ubiquitin specific protease 40"			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.-23T>-	2.37:g.234474223delA			Q6NX38|Q70EL0	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L5fs	ENST00000427112.2	37	c.14	CCDS46547.1	2																																																																																			USP40	-	NULL	ENSG00000085982		0.338	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1		0	20	0	A	XM_114294		234474223	-1	tier1		no_errors	ENST00000450966	ensembl	human	known	74_37	frame_shift_del	40.00	6	4	DEL	0.901	-	-	234474223	A	-	234474223	6	5	58	0	1	1	0	1	0	0	0	0	17121	372	13	0		0	USP40	2	234474223	5'UTR	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1123530	234474223	8725150	431	14814											
COL6A3	1293	genome.wustl.edu	37	chr2	238253013	238253013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagcgttgatgagctGccggtcttcctgccttgtaa	7	12	11	11	2	1	2	0	2	1	0	2	2	2	2	3	1	5	4	3	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:238253013G>T	ENST00000295550.4	-	36	8100	c.7648C>A	c.(7648-7650)Cag>Aag	p.Q2550K	COL6A3_ENST00000347401.3_Missense_Mutation_p.Q2349K|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q1943K|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q2344K|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q2344K|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q2350K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2550	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGATGAGCTGCCGGTCTTCC	0.562																																																	0													159	160	159					2																	238253013		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7648C>A	2.37:g.238253013G>T	ENSP00000295550:p.Gln2550Lys		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q2550K	ENST00000295550.4	37	c.7648	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509027	0.27036	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	5.08	2.94	0.34122	von Willebrand factor, type A (3);	0.861652	0.09715	N	0.765127	T	0.17704	0.0425	L	0.29908	0.895	0.28682	N	0.905046	B;B;B;P	0.52316	0.101;0.101;0.082;0.952	B;B;B;P	0.58391	0.096;0.062;0.058;0.838	T	0.06752	-1.0809	10	0.11182	T	0.66	.	8.6835	0.34223	0.0:0.443:0.3733:0.1837	.	1943;1943;2344;2550	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	K	2550;2349;2344;1943;2344;2350	ENSP00000295550:Q2550K;ENSP00000315609:Q2349K;ENSP00000315873:Q2344K;ENSP00000418285:Q1943K;ENSP00000386844:Q2344K;ENSP00000295546:Q2350K	ENSP00000295550:Q2550K	Q	-	1	0	COL6A3	237917752	0.000000	0.05858	0.997000	0.53966	0.926000	0.56050	0.582000	0.23834	1.233000	0.43693	0.655000	0.94253	CAG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0	31	0	G	NM_004369		238253013	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.866	T	T	238253013	G	T	238253013	3	4	58	1	0	0	0	0	1	0	0	0	3708	1328	46	3	1921	3	COL6A3	2	238253013	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3778790	238253013	4946360	432	14815											
PER2	8864	genome.wustl.edu	37	chr2	239161960	239161960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcatgaatgccatgacagGcgccaaaggggcagggaaag	14	4	15	8	1	0	2	0	2	0	0	0	3	0	3	2	4	2	2	2	4	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:239161960G>T	ENST00000254657.3	-	19	2983	c.2704C>A	c.(2704-2706)Cct>Act	p.P902T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	902	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCATGACAGGCGCCAAAGGG	0.647																																																	0													42	45	44					2																	239161960		2203	4300	6503	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2704C>A	2.37:g.239161960G>T	ENSP00000254657:p.Pro902Thr		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.P902T	ENST00000254657.3	37	c.2704	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370243	0.42003	.	.	ENSG00000132326	ENST00000254657	T	0.20881	2.04	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	M	0.65320	2	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.888;0.996	T	0.43114	-0.9411	10	0.87932	D	0	-21.1149	14.2092	0.65753	0.0:0.0:1.0:0.0	.	902;902	B4DH14;O15055	.;PER2_HUMAN	T	902	ENSP00000254657:P902T	ENSP00000254657:P902T	P	-	1	0	PER2	238826699	1.000000	0.71417	0.276000	0.24689	0.035000	0.12851	7.271000	0.78506	2.112000	0.64535	0.561000	0.74099	CCT	PER2	-	NULL	ENSG00000132326		0.647	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1		0	71	0	G	NM_022817		239161960	-1			no_errors	ENST00000254657	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.754	T	T	239161960	G	T	239161960	3	4	58	1	0	0	0	0	1	0	0	0	11769	1203	42	3	1083	3	PER2	2	239161960	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	908947	239161960	4037413	433	14816											
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	11	0	16	14	6	0	0	0	0	0	0	0	6	0	3	4	4	4	1	4	4	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	83	0	G	NM_006037		240016733	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	9.46	67	7	SNP	0.191	T	T	240016733	G	T	240016733	3	4	58	1	0	0	0	0	1	0	0	0	7036	1049	37	2	1060	2	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	854773	240016733	3182640	434	14817											
HDAC4	9759	genome.wustl.edu	37	chr2	240036792	240036792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggctggcgctggcccGgctccacctcccgtgggggc	2	6	16	17	3	0	0	0	0	0	0	2	0	2	0	4	6	0	3	4	6	0	0	rs201187772		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:240036792G>A	ENST00000345617.3	-	13	2524	c.1733C>T	c.(1732-1734)cCg>cTg	p.P578L	HDAC4_ENST00000541256.1_Missense_Mutation_p.P552L|HDAC4_ENST00000543185.1_Missense_Mutation_p.P162L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	578					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGCTGGCCCGGCTCCACCTC	0.701																																																	0								G	LEU/PRO	0,4406	2.1+/-5.4	0,0,2203	46	50	48		1733	1.7	0.1	2		48	2,8596	2.2+/-6.3	0,2,4297	yes	missense	HDAC4	NM_006037.3	98	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign	578/1085	240036792	2,13002	2203	4299	6502	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1733C>T	2.37:g.240036792G>A	ENSP00000264606:p.Pro578Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P578L	ENST00000345617.3	37	c.1733	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	3.598	-0.082202	0.07141	0.0	2.33E-4	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.62105	4.3;0.05;4.3	4.89	1.68	0.24146	.	0.411554	0.24247	N	0.040212	T	0.30103	0.0754	N	0.08118	0	0.34555	D	0.711702	B;P;P;B;B;B	0.39696	0.002;0.683;0.571;0.384;0.001;0.001	B;B;B;B;B;B	0.33392	0.0;0.163;0.105;0.023;0.001;0.001	T	0.27400	-1.0075	9	.	.	.	.	3.822	0.08839	0.082:0.1399:0.4902:0.2879	.	578;461;552;552;546;578	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	578;466;162;552;461	ENSP00000264606:P578L;ENSP00000440481:P162L;ENSP00000443057:P552L	.	P	-	2	0	HDAC4	239701729	0.005000	0.15991	0.099000	0.21106	0.044000	0.14063	1.526000	0.35964	0.508000	0.28173	0.655000	0.94253	CCG	HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.701	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	97	0	G	NM_006037		240036792	-1	tier1	rs201187772	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	36.51	40	23	SNP	0.502	A	A	240036792	G	A	240036792	3	1	58	1	0	0	0	0	1	0	0	0	7036	1116	39	1	1581	1	HDAC4	2	240036792	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	20059	240036792	3162581	435	14818											
ANKMY1	51281	genome.wustl.edu	37	chr2	241459933	241459933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcagcttgatggtcCgccagcgcttcctccgcctg	5	8	12	16	3	0	1	0	1	0	0	3	1	3	1	5	1	4	5	5	1	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241459933C>T	ENST00000272972.3	-	8	1797	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	ANKMY1_ENST00000401804.1_Missense_Mutation_p.R617Q|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R466Q|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R289Q|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R298Q|ANKMY1_ENST00000405523.3_Missense_Mutation_p.R387Q|ANKMY1_ENST00000391987.1_Missense_Mutation_p.R528Q|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R387Q|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R387Q	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	528							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGATGGTCCGCCAGCGCTT	0.701																																																	0													28	29	29					2																	241459933		2201	4298	6499	SO:0001583	missense	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1583G>A	2.37:g.241459933C>T	ENSP00000272972:p.Arg528Gln		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.R528Q	ENST00000272972.3	37	c.1583	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	C	2.265	-0.368272	0.05069	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000405523	T;T;T;T;T;T;T;T;T	0.71103	-0.26;-0.26;-0.54;-0.26;-0.54;-0.26;-0.54;-0.49;-0.27	3.47	-6.94	0.01633	Ankyrin repeat-containing domain (2);	3.653670	0.00792	N	0.001345	T	0.42223	0.1193	N	0.12502	0.225	0.22240	N	0.999269	B;B;B;B;B;B	0.25206	0.002;0.002;0.0;0.12;0.0;0.002	B;B;B;B;B;B	0.12156	0.001;0.002;0.001;0.007;0.001;0.001	T	0.43909	-0.9362	10	0.13470	T	0.59	-34.5498	1.4027	0.02274	0.1376:0.3204:0.1804:0.3616	.	528;298;387;289;387;528	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	Q	387;289;528;387;528;298;466;617;387	ENSP00000362415:R387Q;ENSP00000384555:R289Q;ENSP00000272972:R528Q;ENSP00000355097:R387Q;ENSP00000375847:R528Q;ENSP00000362417:R298Q;ENSP00000383968:R466Q;ENSP00000385887:R617Q;ENSP00000385635:R387Q	ENSP00000272972:R528Q	R	-	2	0	ANKMY1	241108606	0.000000	0.05858	0.054000	0.19295	0.001000	0.01503	-0.766000	0.04725	-2.548000	0.00481	-1.995000	0.00447	CGG	ANKMY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000144504		0.701	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0	39	0	C	NM_017844		241459933	-1	tier1	-	no_errors	ENST00000272972	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.017	T	T	241459933	C	T	241459933	3	4	58	1	0	0	0	0	1	0	0	0	634	652	23	1	1282	1	ANKMY1	2	241459933	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1423141	241459933	1739440	436	14819											
ANKMY1	51281	genome.wustl.edu	37	chr2	241494373	241494373	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccatcctgccactcctgCacaccctggacgagctggat	9	7	8	17	1	0	0	0	0	0	0	2	3	2	2	5	2	4	2	5	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241494373C>T	ENST00000272972.3	-	0	193				ANKMY1_ENST00000401804.1_Silent_p.V82V|ANKMY1_ENST00000403283.1_Silent_p.V161V|ANKMY1_ENST00000406958.1_Silent_p.V82V|ANKMY1_ENST00000536462.1_Silent_p.V35V|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000405523.3_Silent_p.V82V|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000361678.4_Silent_p.V82V|ANKMY1_ENST00000373318.2_Silent_p.V82V|ANKMY1_ENST00000462004.1_5'UTR	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCCACTCCTGCACACCCTGGA	0.577																																																	0													172	158	163					2																	241494373		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.-22G>A	2.37:g.241494373C>T			B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.V82	ENST00000272972.3	37	c.246	CCDS2536.1	2																																																																																			ANKMY1	-	NULL	ENSG00000144504		0.577	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0	26	0	C	NM_017844		241494373	-1	tier1	-	no_errors	ENST00000361678	ensembl	human	known	74_37	silent	21.62	29	8	SNP	0.175	T	T	241494373	C	T	241494373	1	4	58	0	1	0	0	0	0	0	0	0	634	697	25	3		3	ANKMY1	2	241494373	5'UTR	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	34440	241494373	1705000	437	14820											
AQP12B	653437	genome.wustl.edu	37	chr2	241621696	241621696	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccacagcgggcccgctgtAggcgggaggactgtgccgca	7	4	17	13	4	0	0	0	0	0	0	0	2	0	2	3	4	3	3	3	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241621696A>G	ENST00000407834.3	-	1	621	c.559T>C	c.(559-561)Tac>Cac	p.Y187H	AQP12B_ENST00000459806.1_5'Flank	NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	175						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCCCGCTGTAGGCGGGAGGA	0.682																																																	0													4	4	4					2																	241621696		1068	2470	3538	SO:0001583	missense	0			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"Ion channels / Aquaporins"	6096	protein-coding gene	gene with protein product			"insulin synthesis associated 3"	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.559T>C	2.37:g.241621696A>G	ENSP00000384894:p.Tyr187His		A4QPB9	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.Y187H	ENST00000407834.3	37	c.559	CCDS46560.1	2	.	.	.	.	.	.	.	.	.	.	.	1.075	-0.668653	0.03403	.	.	ENSG00000185176	ENST00000407834	T	0.43294	0.95	2.8	-3.12	0.05282	.	0.885755	0.10140	N	0.711012	T	0.26774	0.0655	L	0.33245	0.995	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22871	-1.0204	10	0.26408	T	0.33	-12.055	8.2058	0.31454	0.5506:0.0:0.4494:0.0	.	187	A6NM10-2	.	H	187	ENSP00000384894:Y187H	ENSP00000384894:Y187H	Y	-	1	0	AQP12B	241270369	0.232000	0.23762	0.006000	0.13384	0.007000	0.05969	0.355000	0.20163	-0.609000	0.05724	-0.679000	0.03777	TAC	AQP12B	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000185176		0.682	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP12B	HGNC	protein_coding	OTTHUMT00000325625.1	-	0	20	0	A			241621696	-1	tier1	-	no_errors	ENST00000407834	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.066	G	G	241621696	A	G	241621696	3	3	58	1	0	0	0	0	1	0	0	0	825	420	15	4	376	4	AQP12B	2	241621696	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	127323	241621696	1577677	438	14821											
AQP12A	375318	genome.wustl.edu	37	chr2	241631890	241631890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcggcacagtcctcccgccTacagcgggcccgctgtggct	4	7	13	17	4	0	0	0	0	0	0	2	0	2	0	4	3	3	3	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241631890T>C	ENST00000337801.4	+	2	592	c.523T>C	c.(523-525)Tac>Cac	p.Y175H	AQP12A_ENST00000429564.1_Missense_Mutation_p.Y187H|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	175						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCCTCCCGCCTACAGCGGGCC	0.682																																																	0													4	5	5					2																	241631890		1142	3095	4237	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.523T>C	2.37:g.241631890T>C	ENSP00000337144:p.Tyr175His			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.Y187H	ENST00000337801.4	37	c.559		2	.	.	.	.	.	.	.	.	.	.	.	0.298	-0.975652	0.02215	.	.	ENSG00000184945	ENST00000337801;ENST00000373309;ENST00000429564;ENST00000420599	D;T	0.92965	-3.14;0.95	2.5	-3.74	0.04385	Aquaporin-like (2);	0.885755	0.10140	N	0.711012	D	0.85839	0.5790	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.69522	-0.5123	10	0.28530	T	0.3	-12.055	7.9477	0.29995	0.0:0.4636:0.0:0.5364	.	175	Q8IXF9	AQ12A_HUMAN	H	175;113;187;160	ENSP00000337144:Y175H;ENSP00000405899:Y187H	ENSP00000337144:Y175H	Y	+	1	0	AQP12A	241280563	0.003000	0.15002	0.001000	0.08648	0.115000	0.19883	0.204000	0.17335	-0.911000	0.03843	0.063000	0.15292	TAC	AQP12A	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.682	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	-	0	39	0	T	NM_198998		241631890	1	tier1	-	no_errors	ENST00000429564	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.018	C	C	241631890	T	C	241631890	3	2	58	1	0	0	0	0	1	0	0	0	824	1522	53	4	529	4	AQP12A	2	241631890	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	10194	241631890	1567483	439	14822											
HDLBP	3069	genome.wustl.edu	37	chr2	242179021	242179021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccaagtgcctaccaggTcctcaatgatctcctgaatg	10	9	8	14	0	2	2	1	2	1	0	4	2	3	2	5	1	2	1	5	1	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:242179021T>C	ENST00000391975.1	-	19	2833	c.2606A>G	c.(2605-2607)gAc>gGc	p.D869G	HDLBP_ENST00000310931.4_Missense_Mutation_p.D869G|HDLBP_ENST00000391976.2_Missense_Mutation_p.D869G|HDLBP_ENST00000427183.2_Missense_Mutation_p.D836G	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	869	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCCTACCAGGTCCTCAATGAT	0.602																																																	0													92	89	90					2																	242179021		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2606A>G	2.37:g.242179021T>C	ENSP00000375836:p.Asp869Gly		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.D869G	ENST00000391975.1	37	c.2606	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.225127|5.225127	0.95173|0.95173	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000427487	T;T;T;T|.	0.19938|.	2.11;2.11;2.11;2.12|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80053|0.80053	0.4553|0.4553	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.981;0.992|.	D;P|.	0.66847|.	0.947;0.874|.	T|T	0.83146|0.83146	-0.0106|-0.0106	10|5	0.87932|.	D|.	0|.	-44.5956|-44.5956	15.7344|15.7344	0.77831|0.77831	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	836;869|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	G|A	869;869;869;836|271	ENSP00000375836:D869G;ENSP00000375837:D869G;ENSP00000312042:D869G;ENSP00000399139:D836G|.	ENSP00000312042:D869G|.	D|T	-|-	2|1	0|0	HDLBP|HDLBP	241827694|241827694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.908000|7.908000	0.87438|0.87438	2.182000|2.182000	0.69389|0.69389	0.459000|0.459000	0.35465|0.35465	GAC|ACC	HDLBP	-	NULL	ENSG00000115677		0.602	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0	31	0	T	NM_203346		242179021	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	41.94	18	13	SNP	1.000	C	C	242179021	T	C	242179021	3	2	58	1	0	0	0	0	1	0	0	0	7052	1667	58	4	1240	4	HDLBP	2	242179021	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	547131	242179021	1020352	440	14823											
THAP4	51078	genome.wustl.edu	37	chr2	242572997	242572997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccagcatctgtggcagacGcttctgcttttccctgactg	5	12	10	14	2	2	2	0	1	2	1	3	2	3	2	2	1	2	4	2	1	0	3	rs147957437	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:242572997G>A	ENST00000407315.1	-	2	1006	c.575C>T	c.(574-576)gCg>gTg	p.A192V		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	192							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGTGGCAGACGCTTCTGCTTT	0.602																																																	0													79	82	81					2																	242572997		2203	4296	6499	SO:0001583	missense	0			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.575C>T	2.37:g.242572997G>A	ENSP00000385006:p.Ala192Val		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A192V	ENST00000407315.1	37	c.575	CCDS2551.1	2	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842421	0.16963	.	.	ENSG00000176946	ENST00000407315	D	0.95690	-3.78	4.29	-8.57	0.00900	.	11.052600	0.00559	N	0.000272	D	0.87442	0.6178	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76924	-0.2779	10	0.33940	T	0.23	-0.5252	0.8617	0.01194	0.3268:0.2364:0.2624:0.1744	.	192	Q8WY91	THAP4_HUMAN	V	192	ENSP00000385006:A192V	ENSP00000385006:A192V	A	-	2	0	THAP4	242221670	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-0.652000	0.05366	-1.488000	0.01847	-0.238000	0.12139	GCG	THAP4	-	NULL	ENSG00000176946		0.602	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3	-	0	18	0	G	NM_015963		242572997	-1	tier1	-	no_errors	ENST00000407315	ensembl	human	known	74_37	missense	45.83	12	11	SNP	0.000	A	A	242572997	G	A	242572997	3	1	58	1	0	0	0	0	1	0	0	0	15893	1087	38	1	1186	1	THAP4	2	242572997	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	393976	242572997	626376	441	14824											
CHL1	10752	genome.wustl.edu	37	chr3	439987	439987	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtatttgagccgggagctGaacatatagttcgcctaatg	11	11	12	7	2	0	2	0	2	0	0	1	3	0	3	2	2	3	3	2	2	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:439987G>T	ENST00000256509.2	+	25	3814	c.3172G>T	c.(3172-3174)Gaa>Taa	p.E1058*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E1042*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCGGGAGCTGAACATATAGT	0.373																																																	0													79	78	78					3																	439987		2203	4300	6503	SO:0001587	stop_gained	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3172G>T	3.37:g.439987G>T	ENSP00000256509:p.Glu1058*		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E1058*	ENST00000256509.2	37	c.3172	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	45	11.944909	0.99620	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.72	5.72	0.89469	.	0.192419	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.0416	0.89320	0.0:0.0:1.0:0.0	.	.	.	.	X	1058;1042	.	ENSP00000256509:E1058X	E	+	1	0	CHL1	414987	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.279000	0.65597	2.711000	0.92665	0.650000	0.86243	GAA	CHL1	-	NULL	ENSG00000134121		0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0	45	0	G	NM_006614		439987	1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	nonsense	51.85	26	28	SNP	0.970	T	T	439987	G	T	439987	4	4	58	1	0	0	0	0	0	1	0	0	3356	1291	45	3	3262	3	CHL1	3	439987	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		439987	197582443	442	14825											
CPNE9	151835	genome.wustl.edu	37	chr3	9768856	9768856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggggacgctacgcagagCgggacatcgttcaggtagac	10	6	15	10	4	1	2	1	0	0	2	2	4	1	4	0	4	2	4	0	4	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9768856C>T	ENST00000383832.3	+	20	1652	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	CPNE9_ENST00000383831.3_Missense_Mutation_p.R488W	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	488	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTACGCAGAGCGGGACATCGT	0.562																																																	0													177	176	176					3																	9768856		2119	4234	6353	SO:0001583	missense	0				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1462C>T	3.37:g.9768856C>T	ENSP00000373343:p.Arg488Trp		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R488W	ENST00000383832.3	37	c.1462	CCDS2574.2	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018334	0.75275	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.20200	2.7;2.09	4.25	3.29	0.37713	von Willebrand factor, type A (2);	0.063406	0.64402	D	0.000007	T	0.51227	0.1662	M	0.91872	3.25	0.54753	D	0.999984	D	0.89917	1.0	D	0.79108	0.992	T	0.61874	-0.6973	10	0.87932	D	0	.	11.4145	0.49943	0.2488:0.7512:0.0:0.0	.	488	Q8IYJ1	CPNE9_HUMAN	W	488	ENSP00000373343:R488W;ENSP00000373342:R488W	ENSP00000373342:R488W	R	+	1	2	CPNE9	9743856	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.014000	0.49590	2.191000	0.70037	0.467000	0.42956	CGG	CPNE9	-	smart_VWF_A,pfscan_VWF_A	ENSG00000144550		0.562	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE9	HGNC	protein_coding	OTTHUMT00000250205.4	-	0	63	0	C	NM_001033755		9768856	1	tier1	-	no_errors	ENST00000383832	ensembl	human	known	74_37	missense	34.62	33	18	SNP	1.000	T	T	9768856	C	T	9768856	3	4	58	1	0	0	0	0	1	0	0	0	3826	759	27	1	1536	1	CPNE9	3	9768856	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	9328869	9768856	188253574	443	14826											
OGG1	4968	genome.wustl.edu	37	chr3	9799001	9799001	+	3'UTR	DEL	G	G	-																															tttgcacaacaagatggggtGggggatattgagggagacag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9799001delG	ENST00000344629.7	+	0	1548				OGG1_ENST00000449570.2_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302003.7_Frame_Shift_Del_p.G409fs|OGG1_ENST00000383826.5_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AAGATGGGGTGGGGGATATTG	0.478								Base excision repair (BER), DNA glycosylases																																									0													48	47	48					3																	9799001		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"8-hydroxyguanine DNA glycosylase", "OGG1 type 1e", "OGG1 type 1d", "OGG1 type 1g", "OGG1 type 1h"	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.*167G>-	3.37:g.9799001delG			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Frame_Shift_Del	DEL	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.G409fs	ENST00000344629.7	37	c.1222	CCDS2581.1	3																																																																																			OGG1	-	NULL	ENSG00000114026		0.478	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2		0	12	0	G	NM_016821		9799001	1	tier1		no_errors	ENST00000302003	ensembl	human	known	74_37	frame_shift_del	18.75	13	3	DEL	0.000	-	-	9799001	G	-	9799001	6	5	58	0	1	1	0	1	0	0	0	0	10884	1348	47	0		0	OGG1	3	9799001	3'UTR	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	30145	9799001	188223429	444	14827											
TADA3	10474	genome.wustl.edu	37	chr3	9825804	9825804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaaggacctcatcctcGgagtcctctgcggggcggtc	6	8	13	14	3	3	0	2	0	1	0	7	2	5	2	3	5	2	1	3	5	1	0	rs371188578		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9825804G>A	ENST00000301964.2	-	8	1572	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	TADA3_ENST00000343450.2_Silent_p.S338S|TADA3_ENST00000440161.1_Silent_p.S338S	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	338					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTCATCCTCGGAGTCCTCTG	0.602													G|||	1	0.000199681	0	0	5008	,	,		16955	0		0.001	False		,,,				2504	0																0								G	,	1,4405	2.1+/-5.4	0,1,2202	60	52	55		1014,1014	-12.3	0.1	3		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TADA3	NM_006354.2,NM_133480.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	338/433,338/370	9825804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"transcriptional adaptor 3 (NGG1 homolog, yeast)-like"	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1014C>T	3.37:g.9825804G>A			Q6FI83|Q9UFS2	Silent	SNP	pfam_Histone_AcTrfase_su3	p.S338	ENST00000301964.2	37	c.1014	CCDS2583.1	3																																																																																			TADA3	-	pfam_Histone_AcTrfase_su3	ENSG00000171148		0.602	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	HGNC	protein_coding	OTTHUMT00000250236.1	-	0	34	0	G			9825804	-1	tier1	-	no_errors	ENST00000301964	ensembl	human	known	74_37	silent	45.00	22	18	SNP	0.167	A	A	9825804	G	A	9825804	2	1	58	1	0	0	0	0	0	0	0	1	15559	1103	39	1		1	TADA3	3	9825804	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	26803	9825804	188196626	445	14828											
IL17RC	84818	genome.wustl.edu	37	chr3	9962221	9962221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgccctagggagtgaggTacgaatctggtcctatactc	8	10	13	10	1	1	1	0	1	1	0	3	3	2	2	2	4	3	2	2	4	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9962221T>C	ENST00000295981.3	+	6	943	c.725T>C	c.(724-726)gTa>gCa	p.V242A	RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000403601.3_Missense_Mutation_p.V171A|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_Missense_Mutation_p.V42A|IL17RC_ENST00000413608.1_Missense_Mutation_p.V171A|IL17RC_ENST00000455057.1_Missense_Mutation_p.V171A|IL17RC_ENST00000383812.4_Missense_Mutation_p.V171A	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	242					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGAGTGAGGTACGAATCTGG	0.597																																																	0													80	67	71					3																	9962221		2203	4299	6502	SO:0001583	missense	0			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.725T>C	3.37:g.9962221T>C	ENSP00000295981:p.Val242Ala		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	pfam_SEFIR	p.V242A	ENST00000295981.3	37	c.725	CCDS2590.1	3	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458401	0.63401	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.5	5.5	0.81552	.	0.123119	0.36444	N	0.002593	T	0.38665	0.1049	M	0.68952	2.095	0.29551	N	0.851354	P;D;P;P;D;D;P;D;D	0.76494	0.948;0.999;0.805;0.805;0.999;0.999;0.877;0.991;0.999	P;D;B;B;P;P;B;P;D	0.74023	0.475;0.982;0.211;0.211;0.868;0.868;0.38;0.82;0.982	T	0.35919	-0.9769	10	0.87932	D	0	-13.6574	12.2959	0.54847	0.0:0.0:0.0:1.0	.	171;42;171;171;171;171;171;242;171	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	A	171;146;242;146;171;42;171;171	ENSP00000373323:V171A;ENSP00000414609:V146A;ENSP00000295981:V242A;ENSP00000401128:V146A;ENSP00000384969:V171A;ENSP00000395315:V42A;ENSP00000407894:V171A;ENSP00000396064:V171A	ENSP00000295981:V242A	V	+	2	0	IL17RC	9937221	0.998000	0.40836	0.968000	0.41197	0.449000	0.32228	4.038000	0.57318	2.227000	0.72691	0.460000	0.39030	GTA	IL17RC	-	NULL	ENSG00000163702		0.597	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	-	0	57	0	T	NM_032732		9962221	1	tier1	-	no_errors	ENST00000295981	ensembl	human	known	74_37	missense	46.00	27	23	SNP	0.980	C	C	9962221	T	C	9962221	3	2	58	1	0	0	0	0	1	0	0	0	7668	1638	57	4	747	4	IL17RC	3	9962221	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	136417	9962221	188060209	446	14829											
TMEM111	55831	genome.wustl.edu	37	chr3	10015329	10015329	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaggatgcatctaatgtGagtagctcgattccttgctg	9	13	10	9	1	1	1	0	1	1	0	3	3	2	2	2	1	4	4	2	1	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:10015329G>T	ENST00000245046.2	-	5	935	c.477C>A	c.(475-477)ctC>ctA	p.L159L	EMC3_ENST00000429759.1_Silent_p.L197L|EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	159						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CATCTAATGTGAGTAGCTCGA	0.438																																																	0													127	122	124					3																	10015329		2203	4300	6503	SO:0001819	synonymous_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"transmembrane protein 111"	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.477C>A	3.37:g.10015329G>T			B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.L159	ENST00000245046.2	37	c.477	CCDS2594.1	3																																																																																			EMC3	-	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	ENSG00000125037		0.438	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	-	0	73	0	G	NM_018447		10015329	-1	tier1	-	no_errors	ENST00000245046	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.942	T	T	10015329	G	T	10015329	2	4	58	1	0	0	0	0	0	0	0	1	16075	1277	45	3		3	TMEM111	3	10015329	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	53108	10015329	188007101	447	14830											
TIMP4	7079	genome.wustl.edu	37	chr3	12198914	12198914	+	Frame_Shift_Del	DEL	T	T	-																															tttgatttcataccggagcaTtttttcagtgtcagcagggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:12198914delT	ENST00000287814.4	-	2	718	c.208delA	c.(208-210)atgfs	p.M70fs	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	70	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TACCGGAGCATTTTTTCAGTG	0.507																																					Melanoma(199;1446 2144 30617 38794 51714)												0													104	94	97					3																	12198914		2203	4300	6503	SO:0001589	frameshift_variant	0			U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"tissue inhibitor of metalloproteinase 4"			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.208delA	3.37:g.12198914delT	ENSP00000287814:p.Met70fs		B2R7K6	Frame_Shift_Del	DEL	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.M70fs	ENST00000287814.4	37	c.208	CCDS2608.1	3																																																																																			TIMP4	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000157150		0.507	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP4	HGNC	protein_coding	OTTHUMT00000251978.1		0	105	0	T	NM_003256		12198914	-1	tier1		no_errors	ENST00000287814	ensembl	human	known	74_37	frame_shift_del	26.03	54	19	DEL	1.000	-	-	12198914	T	-	12198914	7	5	58	1	0	1	0	1	0	0	0	0	15967	1493	52	0	482	0	TIMP4	3	12198914	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	2183585	12198914	185823516	448	14831											
PPARG	5468	genome.wustl.edu	37	chr3	12434182	12434182	+	Frame_Shift_Del	DEL	A	A	-																															atcttaactgtcggatccacAaaaaaagtagaaataaatgt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:12434182delA	ENST00000287820.6	+	4	671	c.550delA	c.(550-552)aaafs	p.K185fs	PPARG_ENST00000397010.2_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397015.2_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397012.2_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397000.1_Frame_Shift_Del_p.K157fs|PPARG_ENST00000539812.1_Frame_Shift_Del_p.K155fs|PPARG_ENST00000309576.6_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397026.2_Frame_Shift_Del_p.K163fs	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TCGGATCCACAAAAAAAGTAG	0.363			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"																																	Dom	yes		3	3p25	5468	"peroxisome proliferative activated receptor, gamma"	yes	E	0													103	105	104					3																	12434182		2203	4300	6503	SO:0001589	frameshift_variant	0			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"Nuclear hormone receptors"	9236	protein-coding gene	gene with protein product		601487	"peroxisome proliferative activated receptor, gamma"			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.550delA	3.37:g.12434182delA	ENSP00000287820:p.Lys185fs		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S186fs	ENST00000287820.6	37	c.550	CCDS2609.1	3																																																																																			PPARG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000132170		0.363	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2		0	82	0	A	NM_005037		12434182	1	tier1		no_errors	ENST00000287820	ensembl	human	known	74_37	frame_shift_del	40.00	42	28	DEL	1.000	-	-	12434182	A	-	12434182	7	5	58	1	0	1	0	1	0	0	0	0	12338	131	5	0	564	0	PPARG	3	12434182	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	235268	12434182	185588248	449	14832											
MKRN2	23609	genome.wustl.edu	37	chr3	12613765	12613765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacgcagctgctggggagTgccggtttggggatgcctgt	4	10	17	10	2	0	0	0	0	0	0	0	2	0	2	3	5	5	4	3	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:12613765T>C	ENST00000170447.7	+	4	672	c.535T>C	c.(535-537)Tgc>Cgc	p.C179R	MKRN2_ENST00000448482.1_Missense_Mutation_p.C177R|MKRN2_ENST00000411987.1_Missense_Mutation_p.C136R	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	179					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGCTGGGGAGTGCCGGTTTGG	0.597																																																	0													84	75	78					3																	12613765		2203	4300	6503	SO:0001583	missense	0				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"RING-type (C3HC4) zinc fingers"	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.535T>C	3.37:g.12613765T>C	ENSP00000170447:p.Cys179Arg		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.C179R	ENST00000170447.7	37	c.535	CCDS33702.1	3	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291263	0.80914	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	D;D;D	0.99951	-8.74;-8.74;-8.74	5.38	5.38	0.77491	Zinc finger, CCCH-type (3);	0.040129	0.85682	D	0.000000	D	0.99949	0.9978	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.989;0.995;0.995	D	0.95585	0.8650	10	0.87932	D	0	.	15.566	0.76294	0.0:0.0:0.0:1.0	.	136;177;179	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	R	179;136;177	ENSP00000170447:C179R;ENSP00000396340:C136R;ENSP00000397983:C177R	ENSP00000170447:C179R	C	+	1	0	MKRN2	12588765	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.521000	0.81832	2.254000	0.74563	0.533000	0.62120	TGC	MKRN2	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000075975		0.597	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN2	HGNC	protein_coding	OTTHUMT00000339679.1	-	0	64	0	T	NM_014160		12613765	1	tier1	-	no_errors	ENST00000170447	ensembl	human	known	74_37	missense	29.51	43	18	SNP	1.000	C	C	12613765	T	C	12613765	3	2	58	1	0	0	0	0	1	0	0	0	9645	1696	59	4	549	4	MKRN2	3	12613765	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	179583	12613765	185408665	450	14833											
NUP210	23225	genome.wustl.edu	37	chr3	13361314	13361314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgtcactgggatggCaatggcttggttggtcacgg	7	10	15	9	1	2	0	2	0	0	0	2	1	2	1	1	6	1	3	1	6	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:13361314C>T	ENST00000254508.5	-	37	5414	c.5332G>A	c.(5332-5334)Gcc>Acc	p.A1778T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1778					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACTGGGATGGCAATGGCTTGG	0.622																																																	0													85	74	78					3																	13361314		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5332G>A	3.37:g.13361314C>T	ENSP00000254508:p.Ala1778Thr		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.A1778T	ENST00000254508.5	37	c.5332	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	C	1.245	-0.620337	0.03636	.	.	ENSG00000132182	ENST00000254508	T	0.04706	3.57	5.66	0.201	0.15186	.	0.440276	0.25073	N	0.033342	T	0.01092	0.0036	N	0.00368	-1.59	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	10	0.20519	T	0.43	-24.359	4.9977	0.14247	0.2296:0.1281:0.0:0.6423	.	1778	Q8TEM1	PO210_HUMAN	T	1778	ENSP00000254508:A1778T	ENSP00000254508:A1778T	A	-	1	0	NUP210	13336314	1.000000	0.71417	0.299000	0.25016	0.004000	0.04260	1.166000	0.31834	0.088000	0.17205	-1.004000	0.02495	GCC	NUP210	-	NULL	ENSG00000132182		0.622	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	91	0	C	NM_024923		13361314	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	47.14	37	33	SNP	0.987	T	T	13361314	C	T	13361314	3	4	58	1	0	0	0	0	1	0	0	0	10799	710	25	3	347	3	NUP210	3	13361314	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	747549	13361314	184661116	451	14834											
NUP210	23225	genome.wustl.edu	37	chr3	13417860	13417860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttagtgccctgatgcgatgGtatgacccattctgggagga	8	12	13	8	1	1	2	0	2	1	0	1	5	1	4	2	3	2	1	2	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:13417860G>A	ENST00000254508.5	-	10	1306	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	408					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.Y408*(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGATGCGATGGTATGACCCAT	0.577																																																	1	Substitution - Nonsense(1)	endometrium(1)											145	113	124					3																	13417860		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1224C>T	3.37:g.13417860G>A			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.Y408	ENST00000254508.5	37	c.1224	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.577	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	125	0	G	NM_024923		13417860	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	silent	40.91	78	54	SNP	0.998	A	A	13417860	G	A	13417860	2	1	58	1	0	0	0	0	0	0	0	1	10799	1256	44	3		3	NUP210	3	13417860	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	56546	13417860	184604570	452	14835											
HDAC11	79885	genome.wustl.edu	37	chr3	13538267	13538268	+	Frame_Shift_Ins	INS	-	-	C																															gttgctaccatcacagaaatINScccccccgttatcttcctcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:13538267_13538268insC	ENST00000295757.3	+	4	467_468	c.284_285insC	c.(283-288)atccccfs	p.IP95fs	HDAC11_ENST00000433119.1_Frame_Shift_Ins_p.IP67fs|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Ins_p.IP67fs|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000404548.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ATCACAGAAATCCCCCCCGTTA	0.579											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0									,	2,4264		0,2,2131					,	5	1			94	3,8251		0,3,4124	no	frameshift,intron	HDAC11	NM_024827.3,NM_001136041.2	,	0,5,6255	A1A1,A1R,RR		0.0363,0.0469,0.0399	,	,		5,12515				SO:0001589	frameshift_variant	0			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.291dupC	3.37:g.13538274_13538274dupC	ENSP00000295757:p.Ile95fs	688	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Frame_Shift_Ins	INS	pfam_His_deacetylse_dom,prints_His_deacetylse	p.V98fs	ENST00000295757.3	37	c.284_285	CCDS2615.1	3																																																																																			HDAC11	-	pfam_His_deacetylse_dom	ENSG00000163517		0.579	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC11	HGNC	protein_coding	OTTHUMT00000252028.5		0	63	0	-	NM_024827		13538268	1	tier1		no_errors	ENST00000295757	ensembl	human	known	74_37	frame_shift_ins	34.72	47	25	INS	1.000:1.000	C	C	13538268	-	C	13538267	7	5	58	1	0	1	1	0	0	0	0	0	7033	1435	50	0	298	0	HDAC11	3	13538267	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	120407	13538267	184484163	453	14836											
SLC6A6	6533	genome.wustl.edu	37	chr3	14489314	14489314	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcacctcccctgtcatcGagttctgggagtaaggccac	8	10	9	14	1	3	0	2	0	1	0	5	2	4	1	4	2	0	2	4	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:14489314G>T	ENST00000454876.2	+	5	918	c.589G>T	c.(589-591)Gag>Tag	p.E197*	SLC6A6_ENST00000416216.2_Nonsense_Mutation_p.E197*|SLC6A6_ENST00000360861.3_Nonsense_Mutation_p.E197*|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	197					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCCTGTCATCGAGTTCTGGGA	0.562																																																	0													103	74	84					3																	14489314		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.589G>T	3.37:g.14489314G>T	ENSP00000398063:p.Glu197*		B2RNU7|Q9BRI2|Q9BXB0	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.E197*	ENST00000454876.2	37	c.589	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.347638	0.98228	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	.	.	.	4.59	4.59	0.56863	.	0.099077	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.775	0.88504	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000354107:E197X	E	+	1	0	SLC6A6	14464318	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.604000	0.98317	2.268000	0.75426	0.404000	0.27445	GAG	SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000131389		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1		0	33	0	G	NM_003043		14489314	1			no_errors	ENST00000360861	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	1.000	T	T	14489314	G	T	14489314	4	4	58	1	0	0	0	0	0	1	0	0	14733	1059	37	2	599	2	SLC6A6	3	14489314	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	951047	14489314	183533116	454	14837											
C3orf20	84077	genome.wustl.edu	37	chr3	14770040	14770040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcccgagcggctccccaaGctaagtttatactcaggaga	11	8	9	13	2	1	1	1	0	0	1	3	3	3	1	3	2	3	3	3	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:14770040G>T	ENST00000253697.3	+	12	2237	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	C3orf20_ENST00000412910.1_Missense_Mutation_p.K473N|C3orf20_ENST00000435614.1_Missense_Mutation_p.K473N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	595						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGCTCCCCAAGCTAAGTTTAT	0.463																																																	0													78	74	75					3																	14770040		2203	4300	6503	SO:0001583	missense	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1785G>T	3.37:g.14770040G>T	ENSP00000253697:p.Lys595Asn		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.K595N	ENST00000253697.3	37	c.1785	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	6.597	0.478576	0.12521	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.12147	3.0;2.71;2.71	3.31	-0.952	0.10366	.	0.428482	0.19786	N	0.106102	T	0.06781	0.0173	L	0.28400	0.85	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.27905	-1.0060	10	0.30078	T	0.28	-8.2846	0.676	0.00867	0.2461:0.1841:0.3817:0.1881	.	473;595	Q8ND61-2;Q8ND61	.;CC020_HUMAN	N	595;473;473	ENSP00000253697:K595N;ENSP00000402933:K473N;ENSP00000396081:K473N	ENSP00000253697:K595N	K	+	3	2	C3orf20	14745044	0.015000	0.18098	0.000000	0.03702	0.020000	0.10135	0.450000	0.21762	-0.211000	0.10124	-0.463000	0.05309	AAG	C3orf20	-	NULL	ENSG00000131379		0.463	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	-	0	91	0	G	NM_032137		14770040	1	tier1	-	no_errors	ENST00000253697	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T	T	14770040	G	T	14770040	3	4	58	1	0	0	0	0	1	0	0	0	2220	962	34	3	1823	3	C3orf20	3	14770040	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	280726	14770040	183252390	455	14838											
KCNH8	131096	genome.wustl.edu	37	chr3	19190243	19190243	+	Frame_Shift_Del	DEL	A	A	-																															gaaaggattactggcgccgcAaaacaccttcctggacacca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:19190243delA	ENST00000328405.2	+	1	298	c.32delA	c.(31-33)caafs	p.Q11fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	11					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTGGCGCCGCAAAACACCTTC	0.463																																					NSCLC(124;1625 1765 8018 24930 42026)												0													153	139	144					3																	19190243		2203	4300	6503	SO:0001589	frameshift_variant	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.32delA	3.37:g.19190243delA	ENSP00000328813:p.Gln11fs		B7Z2I7|Q59GQ6	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.N12fs	ENST00000328405.2	37	c.32	CCDS2632.1	3																																																																																			KCNH8	-	NULL	ENSG00000183960		0.463	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2		0	112	0	A	NM_144633		19190243	1	tier1		no_errors	ENST00000328405	ensembl	human	known	74_37	frame_shift_del	37.21	54	32	DEL	1.000	-	-	19190243	A	-	19190243	7	5	58	1	0	1	0	1	0	0	0	0	8065	130	5	0	34	0	KCNH8	3	19190243	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	4420203	19190243	178832187	456	14839											
KAT2B	8850	genome.wustl.edu	37	chr3	20142821	20142821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaatttagtcacctgccaGcaaaagaaaggcaaacaata	20	6	6	9	0	1	1	1	0	0	1	1	1	1	1	2	1	3	2	2	1	8	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:20142821G>T	ENST00000263754.4	+	5	1167	c.712G>T	c.(712-714)Gca>Tca	p.A238S		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	238					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCACCTGCCAGCAAAAGAAAG	0.413																																																	0													98	86	90					3																	20142821		2203	4300	6503	SO:0001583	missense	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.712G>T	3.37:g.20142821G>T	ENSP00000263754:p.Ala238Ser		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.A238S	ENST00000263754.4	37	c.712	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041805	0.19748	.	.	ENSG00000114166	ENST00000263754	T	0.19532	2.14	5.82	0.747	0.18371	PCAF, N-terminal (1);	0.162622	0.56097	N	0.000026	T	0.04137	0.0115	N	0.00707	-1.245	0.30803	N	0.739622	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	10	0.05620	T	0.96	-1.1158	6.777	0.23624	0.0:0.1277:0.2488:0.6235	.	238	Q92831	KAT2B_HUMAN	S	238	ENSP00000263754:A238S	ENSP00000263754:A238S	A	+	1	0	KAT2B	20117825	0.927000	0.31430	0.987000	0.45799	0.985000	0.73830	1.150000	0.31639	-0.089000	0.12484	-0.397000	0.06425	GCA	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N	ENSG00000114166		0.413	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0	59	0	G	NM_003884		20142821	1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.980	T	T	20142821	G	T	20142821	3	4	58	1	0	0	0	0	1	0	0	0	8009	971	34	3	730	3	KAT2B	3	20142821	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	952578	20142821	177879609	457	14840											
ZNF385D	79750	genome.wustl.edu	37	chr3	21465453	21465454	+	Splice_Site	INS	-	-	C																															ctcttgcaaaatgacactcaINScccccagtggatgtgctgtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:21465453_21465454insC	ENST00000281523.2	-	7	1473		c.e7+1			NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AATGACACTCACCCCCAGTGGA	0.46																																																	0																																										SO:0001630	splice_region_variant	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.954+1->G	3.37:g.21465458_21465458dupC				Splice_Site	INS	-	e7+1	ENST00000281523.2	37	c.954+1_954+1	CCDS2636.1	3																																																																																			ZNF385D	-	-	ENSG00000151789		0.46	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1		0	34	0	-	NM_024697	Intron	21465454	-1	tier1		no_errors	ENST00000281523	ensembl	human	known	74_37	splice_site_ins	32.56	29	14	INS	1.000:1.000	C	C	21465454	-	C	21465453	8	5	58	1	0	1	1	0	0	0	1	0	17926	173	6	0	239	0	ZNF385D	3	21465453	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1322632	21465453	176556977	458	14841											
NEK10	152110	genome.wustl.edu	37	chr3	27352478	27352478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacccattctctttgatCtttgactgcagcaagttttt	7	17	8	9	0	2	3	0	3	2	0	3	3	2	3	1	1	2	3	1	1	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:27352478C>A	ENST00000429845.2	-	10	960	c.598G>T	c.(598-600)Gat>Tat	p.D200Y	NEK10_ENST00000341435.5_Missense_Mutation_p.D200Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	200					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTCTTTGATCTTTGACTGCA	0.448																																																	0													121	111	114					3																	27352478		1568	3582	5150	SO:0001583	missense	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)- related kinase 10"			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.598G>T	3.37:g.27352478C>A	ENSP00000395849:p.Asp200Tyr		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D200Y	ENST00000429845.2	37	c.598		3	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789508	0.50102	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.53206	0.63	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.715370	0.14028	N	0.346378	T	0.25901	0.0631	N	0.08118	0	0.80722	D	1	P	0.38863	0.65	B	0.29353	0.101	T	0.18745	-1.0327	10	0.72032	D	0.01	.	11.8095	0.52175	0.0:0.9106:0.0:0.0893	.	200	Q6ZWH5	NEK10_HUMAN	Y	200	ENSP00000343847:D200Y	ENSP00000343847:D200Y	D	-	1	0	NEK10	27327482	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.443000	0.35057	2.668000	0.90789	0.655000	0.94253	GAT	NEK10	-	superfamily_ARM-type_fold	ENSG00000163491		0.448	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	-	0	16	0	C	NM_152534		27352478	-1	tier1	-	no_errors	ENST00000341435	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A	A	27352478	C	A	27352478	3	1	58	1	0	0	0	0	1	0	0	0	10361	913	32	3	1604	3	NEK10	3	27352478	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5887025	27352478	170669952	459	14842											
EOMES	8320	genome.wustl.edu	37	chr3	27761750	27761750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgccagcaccacctctacGaacacattgtagtgggcagt	10	8	9	14	2	1	0	0	0	1	0	2	1	2	0	4	1	3	3	4	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:27761750G>A	ENST00000295743.4	-	2	1151	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EOMES_ENST00000537516.1_Silent_p.F21F|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.F316F			O95936	EOMES_HUMAN	eomesodermin	316					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F316F(2)|p.F316L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCACCTCTACGAACACATTGT	0.512																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	large_intestine(2)|lung(1)											126	132	130					3																	27761750		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.948C>T	3.37:g.27761750G>A			B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.F316	ENST00000295743.4	37	c.948	CCDS2646.1	3																																																																																			EOMES	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000163508		0.512	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	-	0	31	0	G	NM_005442		27761750	-1	tier1	-	no_errors	ENST00000449599	ensembl	human	known	74_37	silent	36.00	16	9	SNP	1.000	A	A	27761750	G	A	27761750	2	1	58	1	0	0	0	0	0	0	0	1	5163	1049	37	1		1	EOMES	3	27761750	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	409272	27761750	170260680	460	14843											
TGFBR2	7048	genome.wustl.edu	37	chr3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-																															tccaaagtgcattatgaaggAaaaaaaaaagcctggtgaga																								rs79375991		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)											89	92	91					3																	30691872		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0	35	0	A			30691872	1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	32.14	38	18	DEL	1.000	-	-	30691872	A	-	30691872	7	5	58	1	0	1	0	1	0	0	0	0	15869	246	9	0	463	0	TGFBR2	3	30691872	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	2930122	30691872	167330558	461	14844											
STT3B	201595	genome.wustl.edu	37	chr3	31677497	31677497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccaaaaggaagcgtggcTacattaaaaataagctggtt	16	9	9	7	1	0	0	0	0	0	0	0	1	0	1	1	3	4	3	1	3	9	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:31677497T>C	ENST00000295770.2	+	16	2631	c.2422T>C	c.(2422-2424)Tac>Cac	p.Y808H		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	808					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GAAGCGTGGCTACATTAAAAA	0.318																																																	0													91	96	94					3																	31677497		2203	4300	6503	SO:0001583	missense	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.2422T>C	3.37:g.31677497T>C	ENSP00000295770:p.Tyr808His		Q96JZ4|Q96KY7	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.Y808H	ENST00000295770.2	37	c.2422	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386786	0.25031	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.03	5.03	0.67393	.	0.126144	0.56097	D	0.000034	T	0.27524	0.0676	N	0.02011	-0.69	0.58432	D	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.10823	-1.0613	9	0.24483	T	0.36	-10.5815	15.4746	0.75468	0.0:0.0:0.0:1.0	.	808	Q8TCJ2	STT3B_HUMAN	H	808	.	ENSP00000295770:Y808H	Y	+	1	0	STT3B	31652501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.094000	0.57721	2.198000	0.70561	0.528000	0.53228	TAC	STT3B	-	NULL	ENSG00000163527		0.318	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0	52	0	T	NM_178862		31677497	1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	missense	38.00	31	19	SNP	1.000	C	C	31677497	T	C	31677497	3	2	58	1	0	0	0	0	1	0	0	0	15381	1522	53	4	2484	4	STT3B	3	31677497	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	985625	31677497	166344933	462	14845											
DCLK3	85443	genome.wustl.edu	37	chr3	36756896	36756896	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggacacctgcttctgtcGtttcactgtattggtcttgc	4	15	12	10	1	3	0	1	0	2	0	4	1	3	1	1	3	2	3	1	3	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:36756896G>T	ENST00000416516.2	-	5	2360	c.1870C>A	c.(1870-1872)Cga>Aga	p.R624R	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	624						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCTTCTGTCGTTTCACTGTA	0.557																																																	0													87	88	87					3																	36756896		2058	4199	6257	SO:0001819	synonymous_variant	0			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1870C>A	3.37:g.36756896G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R624	ENST00000416516.2	37	c.1870	CCDS43064.1	3																																																																																			DCLK3	-	superfamily_Kinase-like_dom	ENSG00000163673		0.557	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1		0	54	0	G	XM_047355		36756896	-1			no_errors	ENST00000416516	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.002	T	T	36756896	G	T	36756896	2	4	58	1	0	0	0	0	0	0	0	1	4302	1153	40	2		2	DCLK3	3	36756896	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5079399	36756896	161265534	463	14846											
VILL	50853	genome.wustl.edu	37	chr3	38040859	38040859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatgtaaagctggacgtgGgcaagctgcacacccagcct	10	8	11	12	1	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:38040859G>T	ENST00000283713.6	+	11	1377	c.1111G>T	c.(1111-1113)Ggc>Tgc	p.G371C	VILL_ENST00000465644.1_Missense_Mutation_p.G89C|VILL_ENST00000383759.2_Missense_Mutation_p.G371C			O15195	VILL_HUMAN	villin-like	371					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCTGGACGTGGGCAAGCTGCA	0.627																																																	0													109	91	97					3																	38040859		2203	4300	6503	SO:0001583	missense	0				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1111G>T	3.37:g.38040859G>T	ENSP00000283713:p.Gly371Cys		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.G371C	ENST00000283713.6	37	c.1111	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	33	5.235972	0.95240	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.32272	1.46;1.46;1.46	4.35	2.53	0.30540	.	0.596299	0.18970	N	0.126152	T	0.36635	0.0974	M	0.68317	2.08	0.31714	N	0.639133	D;P	0.58620	0.983;0.836	P;P	0.51550	0.673;0.474	T	0.47898	-0.9081	10	0.62326	D	0.03	-6.8182	4.9212	0.13871	0.386:0.0:0.614:0.0	.	357;371	O15195-2;O15195	.;VILL_HUMAN	C	371;371;357;89	ENSP00000283713:G371C;ENSP00000373266:G371C;ENSP00000422096:G89C	ENSP00000283713:G371C	G	+	1	0	VILL	38015863	0.967000	0.33354	0.016000	0.15963	0.881000	0.50899	3.548000	0.53670	1.178000	0.42870	0.650000	0.86243	GGC	VILL	-	NULL	ENSG00000136059		0.627	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	-	0	50	0	G	NM_015873		38040859	1	tier1	-	no_errors	ENST00000283713	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.938	T	T	38040859	G	T	38040859	3	4	58	1	0	0	0	0	1	0	0	0	17214	1232	43	3	1149	3	VILL	3	38040859	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1283963	38040859	159981571	464	14847											
TRAK1	22906	genome.wustl.edu	37	chr3	42264488	42264488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagccacttgaaatccacGccggtggccacaccatgcac	11	5	8	17	2	0	1	0	1	0	0	1	1	1	1	6	2	2	1	6	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:42264488G>A	ENST00000327628.5	+	16	2521	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.T649T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	707					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGAAATCCACGCCGGTGGCCA	0.562																																					GBM(44;195 884 22595 31865 41850)												0													60	71	67					3																	42264488		2065	4212	6277	SO:0001819	synonymous_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2121G>A	3.37:g.42264488G>A			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.T649	ENST00000327628.5	37	c.1947	CCDS43072.1	3																																																																																			TRAK1	-	NULL	ENSG00000182606		0.562	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0	48	0	G	NM_014965		42264488	1	tier1	-	no_errors	ENST00000396175	ensembl	human	known	74_37	silent	50.00	16	16	SNP	0.046	A	A	42264488	G	A	42264488	2	1	58	1	0	0	0	0	0	0	0	1	16497	1074	38	1		1	TRAK1	3	42264488	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4223629	42264488	155757942	465	14848											
NKTR	4820	genome.wustl.edu	37	chr3	42659102	42659102	+	Frame_Shift_Del	DEL	A	A	-																															ctcttctcagacatatgtccAaaaacatgcaaaaacttcct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:42659102delA	ENST00000232978.8	+	3	287	c.99delA	c.(97-99)ccafs	p.P33fs	RP4-613B23.1_ENST00000438017.1_RNA|NKTR_ENST00000442970.1_Frame_Shift_Del_p.P33fs|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	33	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACATATGTCCAAAAACATGCA	0.328																																																	0													157	140	146					3																	42659102		2203	4298	6501	SO:0001589	frameshift_variant	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"NK-tumor recognition protein", "natural-killer cells cyclophilin-related protein", "NK-TR protein"	161565	"natural killer-tumor recognition sequence"			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.99delA	3.37:g.42659102delA	ENSP00000232978:p.Pro33fs			Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.T35fs	ENST00000232978.8	37	c.99	CCDS2702.1	3																																																																																			NKTR	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000114857		0.328	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2		0	62	0	A	NM_005385		42659102	1	tier1		no_errors	ENST00000232978	ensembl	human	known	74_37	frame_shift_del	31.43	48	22	DEL	1.000	-	-	42659102	A	-	42659102	7	5	58	1	0	1	0	1	0	0	0	0	10487	117	5	0	105	0	NKTR	3	42659102	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	394614	42659102	155363328	466	14849											
CCDC13	152206	genome.wustl.edu	37	chr3	42799707	42799707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggctcctcttggtcgtcaGctctgcttttgaggctcagt	4	14	12	11	1	4	1	2	1	2	0	6	1	5	1	1	3	2	4	1	3	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:42799707G>T	ENST00000310232.6	-	2	214	c.131C>A	c.(130-132)gCt>gAt	p.A44D	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	44										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTGGTCGTCAGCTCTGCTTTT	0.498																																																	0													242	198	213					3																	42799707		2203	4300	6503	SO:0001583	missense	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.131C>A	3.37:g.42799707G>T	ENSP00000309836:p.Ala44Asp			Missense_Mutation	SNP	superfamily_Prefoldin	p.A44D	ENST00000310232.6	37	c.131	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	G	4.123	0.021030	0.08006	.	.	ENSG00000244607	ENST00000310232	T	0.23147	1.92	4.59	-9.18	0.00688	.	1.528080	0.03501	N	0.218074	T	0.16171	0.0389	L	0.44542	1.39	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.13442	-1.0509	10	0.34782	T	0.22	.	2.4483	0.04511	0.1727:0.3175:0.3454:0.1644	.	44;44;44	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	D	44	ENSP00000309836:A44D	ENSP00000309836:A44D	A	-	2	0	CCDC13	42774711	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.389000	0.00488	-2.109000	0.00838	-0.882000	0.02950	GCT	CCDC13	-	NULL	ENSG00000244607		0.498	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	-	0	147	0	G	NM_144719		42799707	-1	tier1	-	no_errors	ENST00000310232	ensembl	human	known	74_37	missense	5.65	117	7	SNP	0.000	T	T	42799707	G	T	42799707	3	4	58	1	0	0	0	0	1	0	0	0	2772	971	34	3	2076	3	CCDC13	3	42799707	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	140605	42799707	155222723	467	14850											
ZDHHC3	51304	genome.wustl.edu	37	chr3	45000845	45000845	+	Frame_Shift_Del	DEL	G	G	-																															gttcccacaggaccagggtaGgggggtgggacacacttctc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:45000845delG	ENST00000424952.2	-	2	352	c.84delC	c.(82-84)cccfs	p.P28fs	ZDHHC3_ENST00000296127.3_Frame_Shift_Del_p.P28fs|ZDHHC3_ENST00000342790.4_Frame_Shift_Del_p.P28fs	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	28					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GACCAGGGTAGGGGGGTGGGA	0.542																																																	0													112	115	114					3																	45000845		2203	4300	6503	SO:0001589	frameshift_variant	0			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"Zinc fingers, DHHC-type"	18470	protein-coding gene	gene with protein product	"golgi-specific DHHC Zinc Finger Protein"					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.84delC	3.37:g.45000845delG	ENSP00000395502:p.Pro28fs		Q53A17|Q96BL0	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Y29fs	ENST00000424952.2	37	c.84	CCDS46811.1	3																																																																																			ZDHHC3	-	NULL	ENSG00000163812		0.542	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	HGNC	protein_coding	OTTHUMT00000347004.1		0	40	0	G	NM_016598		45000845	-1	tier1		no_errors	ENST00000296127	ensembl	human	known	74_37	frame_shift_del	46.15	14	12	DEL	0.665	-	-	45000845	G	-	45000845	7	5	58	1	0	1	0	1	0	0	0	0	17664	987	35	0	1180	0	ZDHHC3	3	45000845	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	2201138	45000845	153021585	468	14851											
CLEC3B	7123	genome.wustl.edu	37	chr3	45077350	45077350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcaggcgcggccaaCggcaagtggttcgacaagcg	8	6	15	12	5	1	0	1	0	0	0	3	1	2	0	2	4	2	2	2	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:45077350C>T	ENST00000296130.4	+	3	723	c.543C>T	c.(541-543)aaC>aaT	p.N181N	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Silent_p.N139N|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	181	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	GCGCGGCCAACGGCAAGTGGT	0.687																																					GBM(139;1487 3263 30871)												0													31	32	32					3																	45077350		2200	4296	6496	SO:0001819	synonymous_variant	0				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"C-type lectin domain containing"	11891	protein-coding gene	gene with protein product		187520	"tetranectin (plasminogen binding protein)"	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.543C>T	3.37:g.45077350C>T			Q6FGX6	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.N181	ENST00000296130.4	37	c.543	CCDS2726.1	3																																																																																			CLEC3B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000163815		0.687	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	-	0	71	0	C	NM_003278		45077350	1	tier1	-	no_errors	ENST00000296130	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.002	T	T	45077350	C	T	45077350	2	4	58	1	0	0	0	0	0	0	0	1	3518	535	19	1		1	CLEC3B	3	45077350	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	76505	45077350	152945080	469	14852											
ALS2CL	259173	genome.wustl.edu	37	chr3	46729610	46729610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgggcctgcagtacacGgtcagcacctcgcagcagca	9	7	12	13	2	1	0	1	0	0	0	2	0	1	0	2	2	5	6	2	2	2	2	rs144978241		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:46729610G>T	ENST00000318962.4	-	3	363	c.280C>A	c.(280-282)Cgt>Agt	p.R94S	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R94S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	94					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R94C(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGTACACGGTCAGCACCT	0.617																																																	1	Substitution - Missense(1)	skin(1)											67	56	60					3																	46729610		2203	4299	6502	SO:0001583	missense	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.280C>A	3.37:g.46729610G>T	ENSP00000313670:p.Arg94Ser		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.R94S	ENST00000318962.4	37	c.280	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660665	0.29515	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.17054	2.3;2.3	4.36	2.47	0.30058	Dbl homology (DH) domain (1);	1.243340	0.05657	N	0.586138	T	0.11410	0.0278	N	0.24115	0.695	0.18873	N	0.999983	B	0.25743	0.133	B	0.17433	0.018	T	0.35351	-0.9792	10	0.22109	T	0.4	.	6.2172	0.20661	0.1044:0.1875:0.7081:0.0	.	94	Q60I27	AL2CL_HUMAN	S	94	ENSP00000313670:R94S;ENSP00000413223:R94S	ENSP00000313670:R94S	R	-	1	0	ALS2CL	46704614	0.934000	0.31675	0.035000	0.18076	0.637000	0.38172	1.435000	0.34969	0.524000	0.28502	0.591000	0.81541	CGT	ALS2CL	-	superfamily_DH-domain	ENSG00000178038		0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3		0	47	0	G	NM_147129		46729610	-1			no_errors	ENST00000318962	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.110	T	T	46729610	G	T	46729610	3	4	58	1	0	0	0	0	1	0	0	0	551	1116	39	2	2677	2	ALS2CL	3	46729610	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1652260	46729610	151292820	470	14853											
TMIE	259236	genome.wustl.edu	37	chr3	46751073	46751073	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccctgccccacagaggaTaagaagaagaagaagaagaa	18	3	10	10	0	0	7	0	0	0	7	1	8	1	8	4	1	1	0	4	1	7	1	rs552239745|rs540703112|rs71619660|rs10578999|rs397817178|rs111033328|rs550122158|rs544504092|rs538183178|rs370899710|rs529593774	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:46751073T>G	ENST00000326431.3	+	4	521	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	122					inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CCACAGAGGATaagaagaaga	0.512																																																	0													107	112	110					3																	46751073		1947	4139	6086	SO:0001583	missense	0			AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"deafness, autosomal recessive 6"	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.366T>G	3.37:g.46751073T>G	ENSP00000324775:p.Asp122Glu		A0AV93|A8K0R0	Missense_Mutation	SNP	NULL	p.D122E	ENST00000326431.3	37	c.366	CCDS43081.1	3	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380358	0.42207	.	.	ENSG00000181585	ENST00000326431	D	0.83837	-1.77	4.45	-8.9	0.00782	.	1.365610	0.04508	N	0.382320	T	0.56746	0.2006	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53078	-0.8489	10	0.07482	T	0.82	-0.0274	4.5171	0.11940	0.1839:0.432:0.274:0.1101	.	122	Q8NEW7	TMIE_HUMAN	E	122	ENSP00000324775:D122E	ENSP00000324775:D122E	D	+	3	2	TMIE	46726077	0.004000	0.15560	0.020000	0.16555	0.359000	0.29487	-2.587000	0.00902	-2.830000	0.00339	0.533000	0.62120	GAT	TMIE	-	NULL	ENSG00000181585		0.512	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIE	HGNC	protein_coding	OTTHUMT00000313853.1		0	27	0	T	NM_147196		46751073	1			no_errors	ENST00000326431	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.011	G	G	46751073	T	G	46751073	3	3	58	1	0	0	0	0	1	0	0	0	16276	1403	49	4	380	4	TMIE	3	46751073	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	21463	46751073	151271357	471	14854											
PTH1R	5745	genome.wustl.edu	37	chr3	46943307	46943307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtgctcgccaccaagctgCgggagaccaacgccggccgg	7	3	16	15	5	0	1	0	0	0	1	1	2	0	1	5	4	4	2	5	4	2	0	rs199627585		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:46943307C>T	ENST00000313049.5	+	11	1371	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PTH1R_ENST00000430002.2_Missense_Mutation_p.R390W|PTH1R_ENST00000418619.1_Missense_Mutation_p.R390W|PTH1R_ENST00000449590.1_Missense_Mutation_p.R390W			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	390					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CACCAAGCTGCGGGAGACCAA	0.652																																																	0													58	59	58					3																	46943307		2203	4300	6503	SO:0001583	missense	0				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"GPCR / Class B : Parathyroid hormone receptors"	9608	protein-coding gene	gene with protein product		168468	"parathyroid hormone receptor 1"	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1168C>T	3.37:g.46943307C>T	ENSP00000321999:p.Arg390Trp		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.R390W	ENST00000313049.5	37	c.1168	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929715	0.52759	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.93	4.93	0.64822	GPCR, family 2-like (1);	.	.	.	.	T	0.32376	0.0827	L	0.35341	1.055	0.80722	D	1	B	0.26935	0.164	B	0.28465	0.09	T	0.09930	-1.0652	9	0.37606	T	0.19	.	10.8436	0.46730	0.0:0.9143:0.0:0.0857	.	390	Q03431	PTH1R_HUMAN	W	390;390;390;390;390;654	ENSP00000402723:R390W;ENSP00000411424:R390W;ENSP00000400977:R390W;ENSP00000413774:R390W;ENSP00000321999:R390W	ENSP00000321999:R390W	R	+	1	2	PTH1R	46918311	0.011000	0.17503	1.000000	0.80357	0.987000	0.75469	0.197000	0.17197	2.561000	0.86390	0.563000	0.77884	CGG	PTH1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000160801		0.652	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	-	0	59	0	C	NM_000316		46943307	1	tier1	rs199627585	no_errors	ENST00000313049	ensembl	human	known	74_37	missense	29.09	39	16	SNP	1.000	T	T	46943307	C	T	46943307	3	4	58	1	0	0	0	0	1	0	0	0	12801	759	27	1	1210	1	PTH1R	3	46943307	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	192234	46943307	151079123	472	14855											
NBEAL2	23218	genome.wustl.edu	37	chr3	47041439	47041439	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcccgacaggctggcTggcaagatgtgctgacccgg	6	8	15	12	2	1	2	0	1	1	1	1	3	1	2	2	5	1	4	2	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:47041439T>A	ENST00000450053.3	+	27	4029	c.3850T>A	c.(3850-3852)Tgg>Agg	p.W1284R	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1284					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.W1284R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGGCTGGCTGGCAAGATGT	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											25	30	29					3																	47041439		2180	4281	6461	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3850T>A	3.37:g.47041439T>A	ENSP00000415034:p.Trp1284Arg		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W1284R	ENST00000450053.3	37	c.3850	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913134	0.72983	.	.	ENSG00000160796	ENST00000450053	T	0.72835	-0.69	5.5	5.5	0.81552	.	.	.	.	.	T	0.80899	0.4712	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.82983	-0.0186	9	0.87932	D	0	.	13.5512	0.61734	0.0:0.0:0.0:1.0	.	1284	Q6ZNJ1	NBEL2_HUMAN	R	1284	ENSP00000415034:W1284R	ENSP00000415034:W1284R	W	+	1	0	NBEAL2	47016443	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.831000	0.86748	2.085000	0.62840	0.459000	0.35465	TGG	NBEAL2	-	NULL	ENSG00000160796		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	42	0	T	XM_291064		47041439	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	50.00	14	14	SNP	1.000	A	A	47041439	T	A	47041439	3	1	58	1	0	0	0	0	1	0	0	0	10227	1580	55	5	3956	5	NBEAL2	3	47041439	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	98132	47041439	150980991	473	14856											
SCAP	22937	genome.wustl.edu	37	chr3	47462072	47462072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgtgccaggcgggtgCgggccaggaagtagacaaca	9	4	18	10	3	0	1	0	0	0	1	0	2	0	2	2	5	3	2	2	5	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:47462072C>T	ENST00000265565.5	-	12	1947	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SCAP_ENST00000545718.1_Missense_Mutation_p.R120H|SCAP_ENST00000441517.2_Missense_Mutation_p.R257H|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	512					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAGGCGGGTGCGGGCCAGGAA	0.667											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)												0													38	41	40					3																	47462072		2203	4300	6503	SO:0001583	missense	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1535G>A	3.37:g.47462072C>T	ENSP00000265565:p.Arg512His	947	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R512H	ENST00000265565.5	37	c.1535	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148200	0.78001	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.82619	-1.63;-1.59;0.5	5.03	5.03	0.67393	.	0.058096	0.64402	D	0.000006	T	0.79215	0.4408	L	0.47716	1.5	0.46927	D	0.999253	P;P	0.42871	0.641;0.792	B;B	0.37304	0.133;0.246	T	0.82321	-0.0515	10	0.59425	D	0.04	-23.3549	18.138	0.89627	0.0:1.0:0.0:0.0	.	257;512	F8W921;Q12770	.;SCAP_HUMAN	H	139;512;257;120	ENSP00000265565:R512H;ENSP00000416847:R257H;ENSP00000438956:R120H	ENSP00000265565:R512H	R	-	2	0	SCAP	47437076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.686000	0.68211	2.629000	0.89072	0.462000	0.41574	CGC	SCAP	-	NULL	ENSG00000114650		0.667	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0	163	0	C	NM_012235		47462072	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	29.13	73	30	SNP	1.000	T	T	47462072	C	T	47462072	3	4	58	1	0	0	0	0	1	0	0	0	13922	768	27	1	2352	1	SCAP	3	47462072	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	420633	47462072	150560358	474	14857											
PLXNB1	5364	genome.wustl.edu	37	chr3	48454262	48454262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggtgcaagggcgactcGcggtgcccagggaagaagat	9	5	16	11	4	0	2	0	0	0	2	2	4	1	3	2	4	2	1	2	4	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48454262G>A	ENST00000358536.4	-	25	5012	c.4743C>T	c.(4741-4743)cgC>cgT	p.R1581R	PLXNB1_ENST00000448774.2_Silent_p.R192R|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000456774.1_Silent_p.R1398R|PLXNB1_ENST00000296440.6_Silent_p.R1581R|PLXNB1_ENST00000358459.4_Silent_p.R1398R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1581					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGCGACTCGCGGTGCCCAG	0.617																																																	0													58	59	58					3																	48454262		2203	4300	6503	SO:0001819	synonymous_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4743C>T	3.37:g.48454262G>A			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1581	ENST00000358536.4	37	c.4743	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Plexin_cytoplasmic_RasGAP_dom	ENSG00000164050		0.617	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0	40	0	G	NM_002673		48454262	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.988	A	A	48454262	G	A	48454262	2	1	58	1	0	0	0	0	0	0	0	1	12162	1074	38	1		1	PLXNB1	3	48454262	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	992190	48454262	149568168	475	14858											
PLXNB1	5364	genome.wustl.edu	37	chr3	48465485	48465485	+	Frame_Shift_Del	DEL	C	C	-																															ttgtgatgggtggaatgccaCcccccacacccctgctggtg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48465485delC	ENST00000358536.4	-	3	805	c.536delG	c.(535-537)ggtfs	p.G180fs	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Frame_Shift_Del_p.G180fs|PLXNB1_ENST00000296440.6_Frame_Shift_Del_p.G180fs|PLXNB1_ENST00000358459.4_Frame_Shift_Del_p.G180fs	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	180	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAATGCCACCCCCCACACC	0.672																																																	0													10	13	12					3																	48465485		2187	4263	6450	SO:0001589	frameshift_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.536delG	3.37:g.48465485delC	ENSP00000351338:p.Gly180fs		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G179fs	ENST00000358536.4	37	c.536	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.672	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0	25	0	C	NM_002673		48465485	-1	tier1		no_errors	ENST00000296440	ensembl	human	known	74_37	frame_shift_del	36.36	7	4	DEL	1.000	-	-	48465485	C	-	48465485	7	5	58	1	0	1	0	1	0	0	0	0	12162	507	18	0	6015	0	PLXNB1	3	48465485	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	11223	48465485	149556945	476	14859											
COL7A1	1294	genome.wustl.edu	37	chr3	48616352	48616352	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatctcccctcacttacGtctctccctgggtccccagc	5	10	6	20	1	3	0	1	0	2	0	7	0	5	0	5	1	3	1	5	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48616352G>A	ENST00000328333.8	-	62	5531	c.5424C>T	c.(5422-5424)gaC>gaT	p.D1808D	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Splice_Site_p.D1808D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1808	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTCACTTACGTCTCTCCCTG	0.597																																																	0													77	63	68					3																	48616352		2203	4300	6503	SO:0001630	splice_region_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5424+1C>T	3.37:g.48616352G>A			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1808	ENST00000328333.8	37	c.5424	CCDS2773.1	3																																																																																			COL7A1	-	NULL	ENSG00000114270		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0	31	0	G	NM_000094	Silent	48616352	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	46.15	14	12	SNP	0.963	A	A	48616352	G	A	48616352	5	1	58	1	0	0	0	0	0	0	1	0	3711	1159	40	1	3638	1	COL7A1	3	48616352	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	150867	48616352	149406078	477	14860											
UQCRC1	7384	genome.wustl.edu	37	chr3	48637505	48637505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccatgttaccgcaatccgGctttcccattcagccagggg	7	10	10	14	2	1	0	1	0	0	0	4	0	4	0	5	3	2	3	5	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48637505G>A	ENST00000203407.5	-	11	1709	c.1293C>T	c.(1291-1293)agC>agT	p.S431S		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	431					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCGCAATCCGGCTTTCCCATT	0.612																																					NSCLC(81;1112 1427 27031 32409 45529)												0													85	81	82					3																	48637505		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1293C>T	3.37:g.48637505G>A			B2R7R8|Q96DD2	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.S431	ENST00000203407.5	37	c.1293	CCDS2774.1	3																																																																																			UQCRC1	-	superfamily_Metalloenz_LuxS/M16	ENSG00000010256		0.612	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC1	HGNC	protein_coding	OTTHUMT00000257517.1	-	0	24	0	G	NM_003365		48637505	-1	tier1	-	no_errors	ENST00000203407	ensembl	human	known	74_37	silent	38.46	16	10	SNP	1.000	A	A	48637505	G	A	48637505	2	1	58	1	0	0	0	0	0	0	0	1	17068	1194	42	3		3	UQCRC1	3	48637505	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	21153	48637505	149384925	478	14861											
CELSR3	1951	genome.wustl.edu	37	chr3	48697857	48697858	+	Frame_Shift_Del	DEL	AG	AG	-																															acggtgacactggctgaggcAgagagtgggggtgagccatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48697857_48697858delAG	ENST00000164024.4	-	1	2490_2491	c.2210_2211delCT	c.(2209-2211)tctfs	p.S737fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.S737fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	737	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGCTGAGGCAGAGAGTGGGGG	0.564																																																	0																																										SO:0001589	frameshift_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2210_2211delCT	3.37:g.48697861_48697862delAG	ENSP00000164024:p.Ser737fs		O75092	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S737fs	ENST00000164024.4	37	c.2211_2210	CCDS2775.1	3																																																																																			CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000008300		0.564	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0	60	0	AG	NM_001407		48697858	-1	tier1		no_errors	ENST00000544264	ensembl	human	known	74_37	frame_shift_del	23.40	36	11	DEL	0.098:1.000	-	-	48697858	AG	-	48697857	7	5	58	1	0	1	0	1	0	0	0	0	3230	175	7	0	7867	0	CELSR3	3	48697857	Frame_Shift_Del	DEL	AG	TCGA-L5-A4OI-01A-11D-A27G-09	60352	48697857	149324573	479	14862											
BSN	8927	genome.wustl.edu	37	chr3	49691163	49691163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggctccttgtccagctGggctgccacgaggatatatg	6	11	13	11	1	0	0	0	0	0	0	2	2	2	1	3	3	2	3	3	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:49691163G>T	ENST00000296452.4	+	5	4288	c.4174G>T	c.(4174-4176)Ggg>Tgg	p.G1392W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1392					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTGTCCAGCTGGGCTGCCACG	0.627																																																	0													58	62	61					3																	49691163		2203	4300	6503	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4174G>T	3.37:g.49691163G>T	ENSP00000296452:p.Gly1392Trp		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.G1392W	ENST00000296452.4	37	c.4174	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445761	0.25987	.	.	ENSG00000164061	ENST00000296452	T	0.18657	2.2	4.87	-4.81	0.03180	.	0.694548	0.13685	N	0.369958	T	0.14399	0.0348	L	0.29908	0.895	0.09310	N	1	P	0.46327	0.876	B	0.40101	0.319	T	0.15607	-1.0431	10	0.66056	D	0.02	.	15.1669	0.72837	0.8835:0.0:0.1165:0.0	.	1392	Q9UPA5	BSN_HUMAN	W	1392	ENSP00000296452:G1392W	ENSP00000296452:G1392W	G	+	1	0	BSN	49666167	0.007000	0.16637	0.003000	0.11579	0.777000	0.43975	0.711000	0.25764	-0.774000	0.04590	-0.672000	0.03802	GGG	BSN	-	NULL	ENSG00000164061		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0	66	0	G	NM_003458		49691163	1	tier1	-	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.006	T	T	49691163	G	T	49691163	3	4	58	1	0	0	0	0	1	0	0	0	1534	1348	47	3	4192	3	BSN	3	49691163	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	993306	49691163	148331267	480	14863											
MST1	63891	genome.wustl.edu	37	chr3	49724603	49724603	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggcaggatttgatgcCgcagctctggaagcgcacag	8	7	13	13	3	1	1	0	1	1	0	2	3	2	3	2	3	3	4	2	3	1	1	rs562538123	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:49724603C>T	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_Silent_p.A143A|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.G196S|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.G121S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATTTGATGCCGCAGCTCTGG	0.622													C|||	3	0.000599042	0	0	5008	,	,		17794	0		0	False		,,,				2504	0.0031																0													29	32	31					3																	49724603		2200	4300	6500	SO:0001631	upstream_gene_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724603C>T	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G196S	ENST00000327697.6	37	c.586	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026755	0.75390	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.61274	0.12;0.12	5.9	5.0	0.66597	Kringle (4);Kringle-like fold (1);	0.000000	0.43260	D	0.000593	T	0.59418	0.2192	L	0.29908	0.895	0.80722	D	1	D;P;P	0.69078	0.997;0.697;0.836	P;B;B	0.60682	0.878;0.274;0.261	T	0.57665	-0.7772	10	0.34782	T	0.22	.	11.2587	0.49069	0.1278:0.8053:0.0:0.0669	.	182;182;196	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	S	196;121	ENSP00000414287:G196S;ENSP00000373234:G121S	ENSP00000373234:G121S	G	-	1	0	MST1	49699607	0.926000	0.31397	0.997000	0.53966	0.896000	0.52359	1.963000	0.40452	1.434000	0.47414	0.591000	0.81541	GGC	MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000173531		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346475.2	-	0	68	0	C	NM_022064		49724603	-1	tier1	-	no_errors	ENST00000449682	ensembl	human	known	74_37	missense	38.64	27	17	SNP	1.000	T	T	49724603	C	T	49724603	1	4	58	0	1	0	0	0	0	0	0	0	9928	652	23	1		1	MST1	3	49724603	5'Flank	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	33440	49724603	148297827	481	14864											
MON1A	84315	genome.wustl.edu	37	chr3	49947762	49947762	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaagcagcaggcagaggTcagtgtcaggctctaggtaa	13	6	14	8	0	3	2	2	0	1	2	3	2	3	2	0	4	2	5	0	4	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:49947762T>G	ENST00000417270.1	-	5	1886	c.1193A>C	c.(1192-1194)gAc>gCc	p.D398A	MON1A_ENST00000296473.3_Missense_Mutation_p.D487A|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Missense_Mutation_p.D325A|MON1A_ENST00000483022.1_5'Flank			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	390										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGCAGAGGTCAGTGTCAGG	0.627																																																	0													81	68	72					3																	49947762		2203	4300	6503	SO:0001583	missense	0			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"MON1 homolog A (yeast)"			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1193A>C	3.37:g.49947762T>G	ENSP00000399613:p.Asp398Ala		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.D487A	ENST00000417270.1	37	c.1460		3	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857849	0.51376	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.92	5.92	0.95590	.	0.225378	0.52532	D	0.000069	T	0.61974	0.2390	L	0.40543	1.245	0.58432	D	0.999993	B;D;B	0.56287	0.095;0.975;0.146	B;P;B	0.53861	0.03;0.736;0.079	T	0.59537	-0.7436	8	.	.	.	-25.1138	16.3662	0.83325	0.0:0.0:0.0:1.0	.	228;325;390	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	A	487;398;325	.	.	D	-	2	0	MON1A	49922766	1.000000	0.71417	0.978000	0.43139	0.936000	0.57629	6.163000	0.71880	2.274000	0.75844	0.533000	0.62120	GAC	MON1A	-	pfam_Vacuolar_fusion_protein_MON1	ENSG00000164077		0.627	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	MON1A	HGNC	protein_coding	OTTHUMT00000345538.2	-	0	23	0	T	NM_032355		49947762	-1	tier1	-	no_errors	ENST00000296473	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.989	G	G	49947762	T	G	49947762	3	3	58	1	0	0	0	0	1	0	0	0	9736	1667	58	4	510	4	MON1A	3	49947762	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	223159	49947762	148074668	482	14865											
GNAI2	2771	genome.wustl.edu	37	chr3	50294248	50294248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttctgcgtagccttgagCgcctatgacttggtgctagc	6	13	11	11	2	2	2	0	2	2	0	2	2	2	2	2	1	5	2	2	1	3	6	rs587657823		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:50294248C>T	ENST00000313601.6	+	6	1071	c.687C>T	c.(685-687)agC>agT	p.S229S	GNAI2_ENST00000440628.1_Silent_p.S177S|GNAI2_ENST00000536647.1_Silent_p.S148S|GNAI2_ENST00000422163.1_Silent_p.S213S|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Silent_p.S213S|GNAI2_ENST00000451956.1_Silent_p.S192S	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	229					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAGCCTTGAGCGCCTATGACT	0.582													C|||	1	0.000199681	0	0	5008	,	,		20762	0.001		0	False		,,,				2504	0																0													138	129	132					3																	50294248		2203	4300	6503	SO:0001819	synonymous_variant	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.687C>T	3.37:g.50294248C>T			B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.S229	ENST00000313601.6	37	c.687	CCDS2813.1	3																																																																																			GNAI2	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000114353		0.582	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	-	0	145	0	C	NM_002070		50294248	1	tier1	-	no_errors	ENST00000313601	ensembl	human	known	74_37	silent	42.16	59	43	SNP	1.000	T	T	50294248	C	T	50294248	2	4	58	1	0	0	0	0	0	0	0	1	6531	767	27	1		1	GNAI2	3	50294248	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	346486	50294248	147728182	483	14866											
DOCK3	1795	genome.wustl.edu	37	chr3	51352461	51352461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattggtccttttctgggtGtgacactggtcccacagcca	6	13	11	11	0	1	2	0	2	1	0	3	2	3	2	3	3	1	0	3	3	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:51352461G>T	ENST00000266037.9	+	32	3327	c.3304G>T	c.(3304-3306)Gtg>Ttg	p.V1102L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1102					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTTCTGGGTGTGACACTGGT	0.433																																																	0													67	68	68					3																	51352461		1904	4106	6010	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3304G>T	3.37:g.51352461G>T	ENSP00000266037:p.Val1102Leu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.V1102L	ENST00000266037.9	37	c.3304	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.410581	0.96072	.	.	ENSG00000088538	ENST00000266037	T	0.24723	1.84	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.60455	1.87	0.80722	D	1	P	0.50066	0.931	P	0.52031	0.688	T	0.06954	-1.0798	10	0.06625	T	0.88	.	20.3396	0.98756	0.0:0.0:1.0:0.0	.	1102	Q8IZD9	DOCK3_HUMAN	L	1102	ENSP00000266037:V1102L	ENSP00000266037:V1102L	V	+	1	0	DOCK3	51327501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.790000	0.99075	2.812000	0.96745	0.555000	0.69702	GTG	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	44	0	G	NM_004947		51352461	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	51352461	G	T	51352461	3	4	58	1	0	0	0	0	1	0	0	0	4702	1377	48	3	3430	3	DOCK3	3	51352461	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1058213	51352461	146669969	484	14867											
RAD54L2	23132	genome.wustl.edu	37	chr3	51679780	51679780	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accctcacctcatcaccaagGtaagaacttggtatgcatgc	12	9	7	13	0	3	1	3	0	0	1	3	1	3	1	3	2	3	3	3	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:51679780G>T	ENST00000409535.2	+	17	2954		c.e17+1		RAD54L2_ENST00000296477.3_Splice_Site	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CATCACCAAGGTAAGAACTTG	0.488																																																	0													67	62	64					3																	51679780		2203	4300	6503	SO:0001630	splice_region_variant	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2829+1G>T	3.37:g.51679780G>T			Q8TB57|Q9BV54	Splice_Site	SNP	-	e16+1	ENST00000409535.2	37	c.2829+1	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719314	0.89205	.	.	ENSG00000164080	ENST00000409535;ENST00000432863;ENST00000296477	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3882	0.90473	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD54L2	51654820	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.476000	0.97823	2.588000	0.87417	0.561000	0.74099	.	RAD54L2	-	-	ENSG00000164080		0.488	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2		0	66	0	G	NM_015106	Intron	51679780	1			no_errors	ENST00000409535	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	T	T	51679780	G	T	51679780	5	4	58	1	0	0	0	0	0	0	1	0	13039	1275	44	3	2892	3	RAD54L2	3	51679780	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	327319	51679780	146342650	485	14868											
IQCF1	132141	genome.wustl.edu	37	chr3	51929229	51929229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagccgccaccagcactGaatgatgcaggcactgaggg	11	6	12	12	1	1	3	1	3	0	0	1	3	1	3	3	2	3	3	3	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:51929229G>T	ENST00000310914.5	-	4	357	c.295C>A	c.(295-297)Cag>Aag	p.Q99K		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	99										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCAGCACTGAATGATGCAG	0.612																																																	0													46	46	46					3																	51929229		2203	4300	6503	SO:0001583	missense	0			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.295C>A	3.37:g.51929229G>T	ENSP00000307958:p.Gln99Lys		Q8N711	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q99K	ENST00000310914.5	37	c.295	CCDS2836.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.203104	0.95033	.	.	ENSG00000173389	ENST00000310914	D	0.81821	-1.54	4.75	4.75	0.60458	.	0.000000	0.48286	D	0.000185	D	0.88757	0.6523	M	0.78916	2.43	0.30010	N	0.815285	D	0.63880	0.993	D	0.78314	0.991	D	0.85660	0.1288	10	0.66056	D	0.02	-5.8839	13.4271	0.61032	0.0:0.0:1.0:0.0	.	99	Q8N6M8	IQCF1_HUMAN	K	99	ENSP00000307958:Q99K	ENSP00000307958:Q99K	Q	-	1	0	IQCF1	51904269	0.998000	0.40836	0.335000	0.25508	0.823000	0.46562	4.664000	0.61540	2.622000	0.88805	0.549000	0.68633	CAG	IQCF1	-	superfamily_P-loop_NTPase	ENSG00000173389		0.612	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF1	HGNC	protein_coding	OTTHUMT00000346568.1	-	0	22	0	G	NM_152397		51929229	-1	tier1	-	no_errors	ENST00000310914	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.642	T	T	51929229	G	T	51929229	3	4	58	1	0	0	0	0	1	0	0	0	7834	1299	45	3	326	3	IQCF1	3	51929229	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	249449	51929229	146093201	486	14869											
ACY1	95	genome.wustl.edu	37	chr3	52021444	52021444	+	Frame_Shift_Del	DEL	G	G	-																															gagcgccagctttgacttccGtgtggcaccggatgtggact																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52021444delG	ENST00000404366.2	+	11	973	c.827delG	c.(826-828)cgtfs	p.R276fs	ACY1_ENST00000476351.1_Frame_Shift_Del_p.R241fs|ACY1_ENST00000476854.1_Intron|ACY1_ENST00000494103.1_Frame_Shift_Del_p.R204fs|ACY1_ENST00000458031.2_Frame_Shift_Del_p.R366fs|ABHD14A-ACY1_ENST00000463937.1_Frame_Shift_Del_p.R377fs	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	276					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TTTGACTTCCGTGTGGCACCG	0.582																																																	0													60	52	55					3																	52021444		2203	4300	6503	SO:0001589	frameshift_variant	0			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.827delG	3.37:g.52021444delG	ENSP00000384296:p.Arg276fs		C9J6I6|C9J9D8|C9JWD4	Frame_Shift_Del	DEL	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.R366fs	ENST00000404366.2	37	c.1097	CCDS2844.1	3																																																																																			ACY1	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	ENSG00000243989		0.582	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1		0	47	0	G	NM_000666		52021444	1	tier1		no_errors	ENST00000458031	ensembl	human	known	74_37	frame_shift_del	51.72	14	15	DEL	0.999	-	-	52021444	G	-	52021444	7	5	58	1	0	1	0	1	0	0	0	0	226	1145	40	0	865	0	ACY1	3	52021444	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	92215	52021444	146000986	487	14870											
DNAH1	25981	genome.wustl.edu	37	chr3	52431015	52431015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccctgagcacagctacagCgcctcgggcatctaccacca	9	6	8	18	2	1	1	0	1	1	0	3	1	2	1	5	1	5	3	5	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52431015C>T	ENST00000420323.2	+	73	12003	c.11742C>T	c.(11740-11742)agC>agT	p.S3914S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3979	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGCTACAGCGCCTCGGGCA	0.632																																																	0													32	34	34					3																	52431015		2021	4181	6202	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11742C>T	3.37:g.52431015C>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.S3914	ENST00000420323.2	37	c.11742	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy_dom	ENSG00000114841		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	44	0	C	NM_015512		52431015	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	silent	56.00	11	14	SNP	0.002	T	T	52431015	C	T	52431015	2	4	58	1	0	0	0	0	0	0	0	1	4611	767	27	1		1	DNAH1	3	52431015	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	409571	52431015	145591415	488	14871											
SEMA3G	56920	genome.wustl.edu	37	chr3	52474799	52474799	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaacagcgcgtacacctcGaggctcttcccggccttggg	6	8	12	15	4	1	1	0	1	1	0	3	2	2	1	3	3	3	2	3	3	2	3	rs377115739		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52474799G>A	ENST00000231721.2	-	9	968	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	323	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.L323L(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGTACACCTCGAGGCTCTTCC	0.617													G|||	1	0.000199681	0	0	5008	,	,		21730	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	lung(1)						G		0,4406		0,0,2203	65	61	62		969	-9	0	3		62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SEMA3G	NM_020163.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		323/783	52474799	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.969C>T	3.37:g.52474799G>A			Q7L9D9|Q9H7Q3	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.L323	ENST00000231721.2	37	c.969	CCDS2856.1	3																																																																																			SEMA3G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000010319		0.617	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	-	0	28	0	G	NM_020163		52474799	-1	tier1	-	no_errors	ENST00000231721	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.004	A	A	52474799	G	A	52474799	2	1	58	1	0	0	0	0	0	0	0	1	14075	1045	37	1		1	SEMA3G	3	52474799	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	43784	52474799	145547631	489	14872											
NISCH	11188	genome.wustl.edu	37	chr3	52507760	52507760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttccagataagtcactGtgatgctaagcacatcagag	12	12	9	8	0	2	3	2	1	0	2	3	3	3	3	1	0	2	3	1	0	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52507760G>A	ENST00000479054.1	+	8	752	c.680G>A	c.(679-681)tGt>tAt	p.C227Y	NISCH_ENST00000488380.1_Missense_Mutation_p.C227Y|NISCH_ENST00000420808.2_Missense_Mutation_p.C227Y|NISCH_ENST00000345716.4_Missense_Mutation_p.C227Y			Q9Y2I1	NISCH_HUMAN	nischarin	227	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ATAAGTCACTGTGATGCTAAG	0.507																																																	0													87	74	79					3																	52507760		2203	4300	6503	SO:0001583	missense	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.680G>A	3.37:g.52507760G>A	ENSP00000418232:p.Cys227Tyr		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.C227Y	ENST00000479054.1	37	c.680	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	g	26.3	4.725009	0.89298	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.09073	3.02;3.02;3.12;3.06	5.93	5.93	0.95920	.	0.045911	0.85682	D	0.000000	T	0.32041	0.0816	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.72625	0.978;0.969	T	0.00322	-1.1818	10	0.54805	T	0.06	-10.4261	20.3352	0.98737	0.0:0.0:1.0:0.0	.	227;227	Q9Y2I1;C9J715	NISCH_HUMAN;.	Y	227	ENSP00000418232:C227Y;ENSP00000339958:C227Y;ENSP00000417812:C227Y;ENSP00000392484:C227Y	ENSP00000339958:C227Y	C	+	2	0	NISCH	52482800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.132000	0.89603	2.817000	0.96982	0.651000	0.88453	TGT	NISCH	-	NULL	ENSG00000010322		0.507	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	-	0	124	0	G	NM_007184		52507760	1	tier1	-	no_errors	ENST00000345716	ensembl	human	known	74_37	missense	36.28	72	41	SNP	1.000	A	A	52507760	G	A	52507760	3	1	58	1	0	0	0	0	1	0	0	0	10471	1377	48	3	706	3	NISCH	3	52507760	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	32961	52507760	145514670	490	14873											
STAB1	23166	genome.wustl.edu	37	chr3	52538076	52538076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaagcgaggtgggggatgGgcgtgcctgctacggacacc	8	5	19	9	3	0	0	0	0	0	0	0	4	0	3	2	6	4	1	2	6	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52538076G>A	ENST00000321725.6	+	10	1131	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	352					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGGGGGATGGGCGTGCCTGC	0.701																																																	0													30	22	25					3																	52538076		2190	4291	6481	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.1055G>A	3.37:g.52538076G>A	ENSP00000312946:p.Gly352Glu		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G352E	ENST00000321725.6	37	c.1055	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451615	0.84209	.	.	ENSG00000010327	ENST00000321725	T	0.34275	1.37	4.7	4.7	0.59300	FAS1 domain (1);	0.068902	0.56097	D	0.000027	T	0.64983	0.2648	M	0.89095	3.005	0.50632	D	0.999883	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.72384	-0.4310	10	0.87932	D	0	.	13.5	0.61449	0.0:0.0:1.0:0.0	.	352;352	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	352	ENSP00000312946:G352E	ENSP00000312946:G352E	G	+	2	0	STAB1	52513116	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	4.249000	0.58766	2.326000	0.78906	0.462000	0.41574	GGG	STAB1	-	smart_EG-like_dom	ENSG00000010327		0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	52	0	G	NM_015136		52538076	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	A	A	52538076	G	A	52538076	3	1	58	1	0	0	0	0	1	0	0	0	15284	1232	43	3	1093	3	STAB1	3	52538076	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	30316	52538076	145484354	491	14874											
STAB1	23166	genome.wustl.edu	37	chr3	52551565	52551565	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgatcaagactggggacaGgtctcctgcagctgccgtga	9	8	13	11	1	2	3	1	2	1	1	3	4	2	4	2	3	3	2	2	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52551565G>T	ENST00000321725.6	+	44	4639		c.e44-1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGGGGACAGGTCTCCTGCA	0.657																																																	0													38	41	40					3																	52551565		2201	4299	6500	SO:0001630	splice_region_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4564-1G>T	3.37:g.52551565G>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	-	e44-1	ENST00000321725.6	37	c.4564-1	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948437	0.73787	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.059	0.71936	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB1	52526605	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.922000	0.63404	2.497000	0.84241	0.655000	0.94253	.	STAB1	-	-	ENSG00000010327		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	70	0	G	NM_015136	Intron	52551565	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	splice_site	34.21	25	13	SNP	1.000	T	T	52551565	G	T	52551565	5	4	58	1	0	0	0	0	0	0	1	0	15284	1014	35	3	4737	3	STAB1	3	52551565	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	13489	52551565	145470865	492	14875											
PBRM1	55193	genome.wustl.edu	37	chr3	52662977	52662977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcacattatagcgtttgGcattttcaaacattaaattc	12	15	7	7	1	1	0	1	0	0	0	2	0	1	0	0	2	2	3	0	2	5	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52662977G>A	ENST00000296302.7	-	12	1377	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	PBRM1_ENST00000409057.1_Missense_Mutation_p.A459V|PBRM1_ENST00000356770.4_Missense_Mutation_p.A427V|PBRM1_ENST00000410007.1_Missense_Mutation_p.A459V|PBRM1_ENST00000394830.3_Missense_Mutation_p.A459V|PBRM1_ENST00000337303.4_Missense_Mutation_p.A459V|PBRM1_ENST00000409767.1_Missense_Mutation_p.A459V|PBRM1_ENST00000409114.3_Missense_Mutation_p.A459V			Q86U86	PB1_HUMAN	polybromo 1	459	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAGCGTTTGGCATTTTCAAA	0.338			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													105	96	99					3																	52662977		2203	4300	6503	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1376C>T	3.37:g.52662977G>A	ENSP00000296302:p.Ala459Val		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.A459V	ENST00000296302.7	37	c.1376		3	.	.	.	.	.	.	.	.	.	.	G	33	5.264407	0.95399	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.4	5.4	0.78164	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.997;0.999;0.989;0.998;0.992;0.999;1.0;0.995;0.995	T	0.78658	-0.2118	10	0.87932	D	0	1.2813	19.1736	0.93590	0.0:0.0:1.0:0.0	.	459;459;459;459;459;459;459;427;459	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	V	427;459;459;459;459;459;459;459;459;403	ENSP00000349213:A427V;ENSP00000378307:A459V;ENSP00000296302:A459V;ENSP00000338302:A459V;ENSP00000386593:A459V;ENSP00000386529:A459V;ENSP00000386643:A459V;ENSP00000386601:A459V;ENSP00000387775:A459V;ENSP00000397662:A403V	ENSP00000296302:A459V	A	-	2	0	PBRM1	52638017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.539000	0.85634	0.563000	0.77884	GCC	PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000163939		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0	41	0	G	NM_018165		52662977	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	40.00	20	14	SNP	1.000	A	A	52662977	G	A	52662977	3	1	58	1	0	0	0	0	1	0	0	0	11530	1203	42	3	3600	3	PBRM1	3	52662977	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	111412	52662977	145359453	493	14876											
DCP1A	55802	genome.wustl.edu	37	chr3	53381515	53381517	+	In_Frame_Del	DEL	CTC	CTC	-																															ttcagggccgctaggctcatCtcctgcccagctcgactcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:53381515_53381517delCTC	ENST00000607628.1	-	1	137_139	c.28_30delGAG	c.(28-30)gagdel	p.E10del	DCP1A_ENST00000606822.1_In_Frame_Del_p.E10del|DCP1A_ENST00000294241.6_In_Frame_Del_p.E10del|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	10					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTAGGCTCATCTCCTGCCCAGCT	0.616																																																	0																																										SO:0001651	inframe_deletion	0			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"DCP1 decapping enzyme homolog A (S. cerevisiae)"				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.28_30delGAG	3.37:g.53381515_53381517delCTC	ENSP00000475920:p.Glu10del		B4DHN9|U3KQM8	In_Frame_Del	DEL	pfam_DCP1	p.E10in_frame_del	ENST00000607628.1	37	c.30_28		3																																																																																			DCP1A	-	pfam_DCP1	ENSG00000162290		0.616	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding			0	34	0	CTC	NM_018403		53381517	-1	tier1		no_errors	ENST00000607628	ensembl	human	known	74_37	in_frame_del	23.40	36	11	DEL	1.000:1.000:1.000	-	-	53381517	CTC	-	53381515	7	5	58	1	0	1	0	1	0	0	0	0	4307	912	32	0	1758	0	DCP1A	3	53381515	In_Frame_Del	DEL	CTC	TCGA-L5-A4OI-01A-11D-A27G-09	718538	53381515	144640915	494	14877											
LRTM1	57408	genome.wustl.edu	37	chr3	54958868	54958868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttgtttgatgacaaatCaagctccctcagctgaggga	11	12	10	8	0	2	3	2	3	0	0	3	4	3	4	1	1	2	4	1	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:54958868C>A	ENST00000273286.5	-	2	544	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	LRTM1_ENST00000493075.1_Missense_Mutation_p.D52Y|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	128						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GATGACAAATCAAGCTCCCTC	0.473																																																	0													87	83	84					3																	54958868		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.382G>T	3.37:g.54958868C>A	ENSP00000273286:p.Asp128Tyr		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D128Y	ENST00000273286.5	37	c.382	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747890	0.69533	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.59364	0.27;0.27	5.96	5.96	0.96718	.	0.047657	0.85682	D	0.000000	T	0.74876	0.3774	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72301	-0.4334	10	0.48119	T	0.1	.	20.4123	0.99019	0.0:1.0:0.0:0.0	.	128	Q9HBL6	LRTM1_HUMAN	Y	128;52	ENSP00000273286:D128Y;ENSP00000419772:D52Y	ENSP00000273286:D128Y	D	-	1	0	LRTM1	54933908	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	3.524000	0.53495	2.824000	0.97209	0.655000	0.94253	GAT	LRTM1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.473	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	54	0	C	NM_020678		54958868	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	47.06	18	16	SNP	1.000	A	A	54958868	C	A	54958868	3	1	58	1	0	0	0	0	1	0	0	0	9079	826	29	3	663	3	LRTM1	3	54958868	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1577353	54958868	143063562	495	14878											
ERC2	26059	genome.wustl.edu	37	chr3	56330173	56330173	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcttttggatggcaaGcctttactttgcaacatctc	8	14	8	11	0	1	0	0	0	1	0	3	1	2	1	2	3	4	3	2	3	3	5	rs375743908		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:56330173G>T	ENST00000288221.6	-	3	1203	c.948C>A	c.(946-948)ggC>ggA	p.G316G		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	316						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGATGGCAAGCCTTTACTTT	0.458																																																	0													245	241	242					3																	56330173		1890	4106	5996	SO:0001819	synonymous_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.948C>A	3.37:g.56330173G>T			Q2T9F6|Q86TK4	Silent	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.G316	ENST00000288221.6	37	c.948	CCDS46851.1	3																																																																																			ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0	99	0	G	NM_015576		56330173	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	silent	6.67	84	6	SNP	0.240	T	T	56330173	G	T	56330173	2	4	58	1	0	0	0	0	0	0	0	1	5227	958	34	3		3	ERC2	3	56330173	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1371305	56330173	141692257	496	14879											
IL17RD	54756	genome.wustl.edu	37	chr3	57131680	57131680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgtttctgtctggtccGtcgagagtccttccatcagt	7	13	10	11	3	3	2	1	0	2	2	7	3	6	2	3	1	0	1	3	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:57131680G>A	ENST00000296318.7	-	12	2139	c.2051C>T	c.(2050-2052)aCg>aTg	p.T684M	IL17RD_ENST00000320057.5_Missense_Mutation_p.T540M|IL17RD_ENST00000463523.1_Missense_Mutation_p.T540M|IL17RD_ENST00000427856.2_Missense_Mutation_p.T660M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	684					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGTCTGGTCCGTCGAGAGTCC	0.617																																																	0													45	37	40					3																	57131680		2203	4300	6503	SO:0001583	missense	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.2051C>T	3.37:g.57131680G>A	ENSP00000296318:p.Thr684Met		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.T684M	ENST00000296318.7	37	c.2051	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	5.115	0.206849	0.09704	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.10382	2.88;2.89;2.88;2.89	5.91	2.75	0.32379	.	1.075620	0.07052	N	0.832136	T	0.11024	0.0269	L	0.34521	1.04	0.09310	N	1	B;B;B	0.18610	0.017;0.005;0.029	B;B;B	0.13407	0.006;0.004;0.009	T	0.34625	-0.9821	10	0.39692	T	0.17	-5.264	12.4313	0.55575	0.2117:0.0:0.7883:0.0	.	540;684;660	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	M	684;540;660;540	ENSP00000296318:T684M;ENSP00000322250:T540M;ENSP00000399209:T660M;ENSP00000417516:T540M	ENSP00000296318:T684M	T	-	2	0	IL17RD	57106720	0.654000	0.27367	0.001000	0.08648	0.053000	0.15095	4.035000	0.57297	0.843000	0.35070	0.655000	0.94253	ACG	IL17RD	-	NULL	ENSG00000144730		0.617	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	-	0	59	0	G	NM_017563		57131680	-1	tier1	-	no_errors	ENST00000296318	ensembl	human	known	74_37	missense	30.00	42	18	SNP	0.000	A	A	57131680	G	A	57131680	3	1	58	1	0	0	0	0	1	0	0	0	7669	1145	40	1	176	1	IL17RD	3	57131680	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	801507	57131680	140890750	497	14880											
IL17RD	54756	genome.wustl.edu	37	chr3	57132270	57132270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctaggataccggggacGtctccctcgcaggaataatc	10	8	12	11	3	2	0	0	0	2	0	5	3	2	3	2	5	1	1	2	5	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:57132270G>A	ENST00000296318.7	-	12	1549	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000463523.1_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	487	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGGGGACGTCTCCCTCGC	0.567																																																	0													63	56	58					3																	57132270		2203	4300	6503	SO:0001819	synonymous_variant	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1461C>T	3.37:g.57132270G>A			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	pfam_SEFIR,superfamily_TIR_dom	p.D487	ENST00000296318.7	37	c.1461	CCDS2880.2	3																																																																																			IL17RD	-	pfam_SEFIR	ENSG00000144730		0.567	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	-	0	30	0	G	NM_017563		57132270	-1	tier1	-	no_errors	ENST00000296318	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.983	A	A	57132270	G	A	57132270	2	1	58	1	0	0	0	0	0	0	0	1	7669	1136	40	1		1	IL17RD	3	57132270	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	590	57132270	140890160	498	14881											
PXK	54899	genome.wustl.edu	37	chr3	58382896	58382896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctgccttccttctaccGatcttatttttcacaattca	7	16	5	13	1	4	0	2	0	2	0	5	1	5	0	4	1	2	0	4	1	3	7	rs371339749		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:58382896G>A	ENST00000356151.2	+	10	1062	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	PXK_ENST00000484288.1_Missense_Mutation_p.R318Q|PXK_ENST00000383716.3_Missense_Mutation_p.R285Q|PXK_ENST00000463280.1_Missense_Mutation_p.R285Q|PXK_ENST00000536660.1_Missense_Mutation_p.R181Q|PXK_ENST00000302779.5_Missense_Mutation_p.R301Q|PXK_ENST00000479241.1_Missense_Mutation_p.R301Q|PXK_ENST00000383715.4_Missense_Mutation_p.R301Q	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCCTTCTACCGATCTTATTTT	0.448																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150	162	158		953	5.5	1	3		158	0,8600		0,0,4300	no	missense	PXK	NM_017771.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	318/579	58382896	1,13005	2203	4300	6503	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.953G>A	3.37:g.58382896G>A	ENSP00000348472:p.Arg318Gln			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom	p.R318Q	ENST00000356151.2	37	c.953	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.263928|5.263928	0.95399|0.95399	2.27E-4|2.27E-4	0.0|0.0	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81484|0.81484	0.4832|0.4832	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D;D	.|0.89917	.|0.65;1.0;1.0;1.0;1.0;1.0	.|B;D;D;D;D;D	.|0.77004	.|0.119;0.943;0.971;0.989;0.966;0.966	T|T	0.81291|0.81291	-0.0999|-0.0999	5|10	.|0.48119	.|T	.|0.1	-10.0633|-10.0633	19.5916|19.5916	0.95514|0.95514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|285;285;285;318;301;318	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	N|Q	73|318;301;285;285;301;318;301;181;181	.|ENSP00000348472:R318Q;ENSP00000305045:R301Q;ENSP00000373222:R285Q;ENSP00000417903:R285Q;ENSP00000373221:R301Q;ENSP00000417915:R318Q;ENSP00000419049:R301Q;ENSP00000438356:R181Q	.|ENSP00000305045:R301Q	D|R	+|+	1|2	0|0	PXK|PXK	58357936|58357936	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.987000|0.987000	0.75469|0.75469	8.831000|8.831000	0.92068|0.92068	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA	PXK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000168297		0.448	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	-	0	41	0	G	NM_017771		58382896	1	tier1	-	no_errors	ENST00000356151	ensembl	human	known	74_37	missense	47.73	23	21	SNP	0.998	A	A	58382896	G	A	58382896	3	1	58	1	0	0	0	0	1	0	0	0	12894	1058	37	1	991	1	PXK	3	58382896	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1250626	58382896	139639534	499	14882											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64672616	64672616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggatgggagacacgatttcGtattcgctcagggtctctaa	9	11	12	9	4	2	1	1	0	1	1	5	4	2	2	0	3	0	2	0	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:64672616G>A	ENST00000498707.1	-	2	486	c.144C>T	c.(142-144)taC>taT	p.Y48Y	ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9_ENST00000459780.1_Silent_p.Y48Y|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.Y48Y|ADAMTS9-AS2_ENST00000474768.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	48					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACACGATTTCGTATTCGCTCA	0.453																																																	0													81	76	78					3																	64672616		2203	4300	6503	SO:0001819	synonymous_variant	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.144C>T	3.37:g.64672616G>A			A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y48	ENST00000498707.1	37	c.144	CCDS2903.1	3																																																																																			ADAMTS9	-	pfam_Peptidase_M12B_N	ENSG00000163638		0.453	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	74	0	G			64672616	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	silent	29.51	43	18	SNP	1.000	A	A	64672616	G	A	64672616	2	1	58	1	0	0	0	0	0	0	0	1	273	1140	40	1		1	ADAMTS9	3	64672616	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6289720	64672616	133349814	500	14883											
FOXP1	27086	genome.wustl.edu	37	chr3	71026132	71026132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcggaagtaagcaaacattCgtgtgaaccagttatagatc	14	10	10	7	2	0	2	0	1	0	1	3	3	0	3	1	1	3	3	1	1	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:71026132C>T	ENST00000318789.4	-	17	2015	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	FOXP1_ENST00000491238.1_Missense_Mutation_p.R499Q|FOXP1_ENST00000475937.1_Missense_Mutation_p.R497Q|FOXP1_ENST00000484350.1_Missense_Mutation_p.R421Q|FOXP1_ENST00000498215.1_Missense_Mutation_p.R497Q|FOXP1_ENST00000468577.1_Missense_Mutation_p.R497Q|FOXP1_ENST00000493089.1_Missense_Mutation_p.R496Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	497					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGCAAACATTCGTGTGAACCA	0.418			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													184	169	174					3																	71026132		2203	4300	6503	SO:0001583	missense	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"Forkhead boxes"	3823	protein-coding gene	gene with protein product	"fork head-related protein like B", "glutamine-rich factor 1", "PAX5/FOXP1 fusion protein"	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1490G>A	3.37:g.71026132C>T	ENSP00000318902:p.Arg497Gln		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.R497Q	ENST00000318789.4	37	c.1490	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.060896	0.93846	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	6.08	6.08	0.98989	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	L	0.35288	1.05	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;1.0	D;D;D;D	0.76071	0.933;0.982;0.987;0.98	D	0.95901	0.8915	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	496;496;421;497	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	Q	497;309;497;393;499;496;497;421;497	ENSP00000318902:R497Q;ENSP00000419393:R497Q;ENSP00000418225:R393Q;ENSP00000420736:R499Q;ENSP00000418524:R496Q;ENSP00000418102:R497Q;ENSP00000417857:R421Q;ENSP00000418883:R497Q	ENSP00000318902:R497Q	R	-	2	0	FOXP1	71108822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CGA	FOXP1	-	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	ENSG00000114861		0.418	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	-	0	55	0	C	NM_032682		71026132	-1	tier1	-	no_errors	ENST00000318789	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	T	T	71026132	C	T	71026132	3	4	58	1	0	0	0	0	1	0	0	0	6050	884	31	1	563	1	FOXP1	3	71026132	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6353516	71026132	126996298	501	14884											
ROBO2	6092	genome.wustl.edu	37	chr3	77623815	77623815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacttatgaaattaaagtaCggccatattttaatgagttc	14	15	7	5	1	0	3	0	3	0	0	1	3	0	3	1	1	1	2	1	1	7	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:77623815C>T	ENST00000461745.1	+	14	3037	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	ROBO2_ENST00000487694.3_Missense_Mutation_p.R729W|ROBO2_ENST00000332191.8_Missense_Mutation_p.R713W	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	713	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AATTAAAGTACGGCCATATTT	0.393																																																	0													56	52	53					3																	77623815		1843	4100	5943	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2137C>T	3.37:g.77623815C>T	ENSP00000417164:p.Arg713Trp		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R713W	ENST00000461745.1	37	c.2137	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176904	0.57692	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.59083	0.29;0.29;0.29	5.67	4.79	0.61399	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42172	D	0.000753	T	0.78136	0.4236	M	0.82823	2.61	0.46586	D	0.999110	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83156	-0.0101	9	0.72032	D	0.01	.	16.194	0.82011	0.134:0.866:0.0:0.0	.	729;713;713	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	W	729;729;733;713;713;434	ENSP00000417335:R729W;ENSP00000417164:R713W;ENSP00000327536:R713W	ENSP00000327536:R713W	R	+	1	2	ROBO2	77706505	1.000000	0.71417	0.247000	0.24249	0.119000	0.20118	4.964000	0.63701	1.363000	0.46019	0.585000	0.79938	CGG	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.393	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	34	0	C	XM_031246		77623815	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	T	T	77623815	C	T	77623815	3	4	58	1	0	0	0	0	1	0	0	0	13559	527	19	1	2193	1	ROBO2	3	77623815	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6597683	77623815	120398615	502	14885											
GBE1	2632	genome.wustl.edu	37	chr3	81635292	81635292	+	Frame_Shift_Del	DEL	C	C	-																															ctagtcgatagtcaaaaccaCcccctccctgggaaattgga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:81635292delC	ENST00000429644.2	-	10	1929	c.1286delG	c.(1285-1287)ggtfs	p.G430fs	GBE1_ENST00000489715.1_Frame_Shift_Del_p.G389fs	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	430					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTCAAAACCACCCCCTCCCTG	0.398									Glycogen Storage Disease, type IV																																								0													127	125	125					3																	81635292		1863	4096	5959	SO:0001589	frameshift_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1286delG	3.37:g.81635292delC	ENSP00000410833:p.Gly430fs		B3KWV3|Q96EN0	Frame_Shift_Del	DEL	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.G429fs	ENST00000429644.2	37	c.1286	CCDS54612.1	3																																																																																			GBE1	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.398	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2		0	27	0	C			81635292	-1	tier1		no_errors	ENST00000429644	ensembl	human	known	74_37	frame_shift_del	36.84	24	14	DEL	0.014	-	-	81635292	C	-	81635292	7	5	58	1	0	1	0	1	0	0	0	0	6295	507	18	0	850	0	GBE1	3	81635292	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	4011477	81635292	116387138	503	14886											
CRYBG3	131544	genome.wustl.edu	37	chr3	97596787	97596787	+	Frame_Shift_Del	DEL	A	A	-																															ttcccaaagtcattcctcagAaaaaggagccagatttggtg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:97596787delA	ENST00000182096.4	+	1	969	c.905delA	c.(904-906)gaafs	p.E302fs		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2250							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CATTCCTCAGAAAAAGGAGCC	0.403																																																	0													74	68	70					3																	97596787		1799	4082	5881	SO:0001589	frameshift_variant	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.905delA	3.37:g.97596787delA	ENSP00000182096:p.Glu302fs		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Frame_Shift_Del	DEL	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G304fs	ENST00000182096.4	37	c.905		3																																																																																			CRYBG3	-	NULL	ENSG00000080200		0.403	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1		0	44	0	A	NM_153605		97596787	1	tier1		no_errors	ENST00000182096	ensembl	human	known	74_37	frame_shift_del	30.77	36	16	DEL	1.000	-	-	97596787	A	-	97596787	7	5	58	1	0	1	0	1	0	0	0	0	3920	246	9	0	907	0	CRYBG3	3	97596787	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	15961495	97596787	100425643	504	14887											
TFG	10342	genome.wustl.edu	37	chr3	100467227	100467227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacctggaatggctccaaGccaacctggggcctatcaac	11	7	9	14	0	2	0	2	0	0	0	3	1	3	1	5	4	4	1	5	4	6	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:100467227G>T	ENST00000240851.4	+	8	1395	c.1055G>T	c.(1054-1056)aGc>aTc	p.S352I	TFG_ENST00000476228.1_Missense_Mutation_p.S348I|TFG_ENST00000418917.2_Missense_Mutation_p.S348I|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Missense_Mutation_p.S352I	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	352					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATGGCTCCAAGCCAACCTGGG	0.507			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"E, L"	0													78	78	78					3																	100467227		2203	4300	6503	SO:0001583	missense	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1055G>T	3.37:g.100467227G>T	ENSP00000240851:p.Ser352Ile		D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.S352I	ENST00000240851.4	37	c.1055	CCDS2939.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409692|3.409692	0.62399|0.62399	.|.	.|.	ENSG00000114354|ENSG00000114354	ENST00000443578|ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	.|T;T;T;T	.|0.47177	.|0.85;0.86;0.86;0.85	6.16|6.16	5.29|5.29	0.74685|0.74685	.|.	.|0.053829	.|0.64402	.|D	.|0.000001	T|T	0.32346|0.32346	0.0826|0.0826	N|N	0.14661|0.14661	0.345|0.345	0.45852|0.45852	D|D	0.99871|0.99871	.|P;P	.|0.44195	.|0.828;0.736	.|B;B	.|0.38803	.|0.282;0.205	T|T	0.17440|0.17440	-1.0369|-1.0369	6|10	0.87932|0.45353	D|T	0|0.12	-7.0483|-7.0483	15.1893|15.1893	0.73032|0.73032	0.0675:0.0:0.9325:0.0|0.0675:0.0:0.9325:0.0	.|.	.|348;352	.|G5E9V1;Q92734	.|.;TFG_HUMAN	S|I	348|348;352;352;348	.|ENSP00000397182:S348I;ENSP00000419960:S352I;ENSP00000240851:S352I;ENSP00000417952:S348I	ENSP00000409727:A348S|ENSP00000240851:S352I	A|S	+|+	1|2	0|0	TFG|TFG	101949917|101949917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.840000|3.840000	0.55843|0.55843	1.631000|1.631000	0.50456|0.50456	0.650000|0.650000	0.86243|0.86243	GCC|AGC	TFG	-	NULL	ENSG00000114354		0.507	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	-	0	56	0	G	NM_006070		100467227	1	tier1	-	no_errors	ENST00000240851	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	100467227	G	T	100467227	3	4	58	1	0	0	0	0	1	0	0	0	15853	971	34	3	1081	3	TFG	3	100467227	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2870440	100467227	97555203	505	14888											
ABHD10	55347	genome.wustl.edu	37	chr3	111705797	111705797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttggagggtggcttatgCttcatgctgcaattgcacga	7	12	13	9	1	1	0	1	0	0	0	1	2	1	1	1	3	4	5	1	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:111705797C>T	ENST00000273359.3	+	4	502	c.475C>T	c.(475-477)Ctt>Ttt	p.L159F	ABHD10_ENST00000534857.1_Missense_Mutation_p.L2F|ABHD10_ENST00000494817.1_Missense_Mutation_p.L159F	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	159					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GTGGCTTATGCTTCATGCTGC	0.373																																																	0													140	130	133					3																	111705797		2203	4300	6503	SO:0001583	missense	0			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"Abhydrolase domain containing"	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.475C>T	3.37:g.111705797C>T	ENSP00000273359:p.Leu159Phe		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.L159F	ENST00000273359.3	37	c.475	CCDS2963.1	3	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193745	0.58017	.	.	ENSG00000144827	ENST00000534857;ENST00000273359;ENST00000494817	T;T;T	0.72615	0.38;0.38;-0.67	6.08	4.31	0.51392	.	0.130701	0.53938	N	0.000057	T	0.74015	0.3661	M	0.77616	2.38	0.53688	D	0.999977	P	0.35628	0.513	B	0.41466	0.358	T	0.73078	-0.4096	10	0.45353	T	0.12	.	12.185	0.54234	0.0:0.8601:0.0:0.1399	.	159	Q9NUJ1	ABHDA_HUMAN	F	2;159;159	ENSP00000442932:L2F;ENSP00000273359:L159F;ENSP00000418973:L159F	ENSP00000273359:L159F	L	+	1	0	ABHD10	113188487	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.280000	0.43443	0.915000	0.36847	0.591000	0.81541	CTT	ABHD10	-	pfam_AB_hydrolase_1,pfam_Peptidase_S9	ENSG00000144827		0.373	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	HGNC	protein_coding	OTTHUMT00000354326.1	-	0	53	0	C	NM_018394		111705797	1	tier1	-	no_errors	ENST00000273359	ensembl	human	known	74_37	missense	37.50	30	18	SNP	1.000	T	T	111705797	C	T	111705797	3	4	58	1	0	0	0	0	1	0	0	0	74	797	28	3	489	3	ABHD10	3	111705797	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	11238570	111705797	86316633	506	14889											
TAGLN3	29114	genome.wustl.edu	37	chr3	111719763	111719763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatggtgtcagaaccaccGacatctttcagacggtggat	10	10	10	11	2	3	2	2	0	1	2	3	4	3	3	3	3	1	0	3	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:111719763G>A	ENST00000393917.2	+	3	877	c.325G>A	c.(325-327)Gac>Aac	p.D109N	TAGLN3_ENST00000486460.1_Missense_Mutation_p.D25N|TAGLN3_ENST00000273368.4_Missense_Mutation_p.D109N|TAGLN3_ENST00000455401.2_Missense_Mutation_p.D109N|TAGLN3_ENST00000478951.1_Missense_Mutation_p.D109N	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	109	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						CAGAACCACCGACATCTTTCA	0.483																																																	0													136	139	138					3																	111719763		2203	4300	6503	SO:0001583	missense	0			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.325G>A	3.37:g.111719763G>A	ENSP00000377494:p.Asp109Asn		D3DN64|Q96A74	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat	p.D109N	ENST00000393917.2	37	c.325	CCDS33816.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.200879	0.94997	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460;ENST00000469385	T;T;T;T;T;D	0.94758	0.24;0.24;0.24;0.24;0.85;-3.51	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	M	0.85299	2.745	0.80722	D	1	D	0.53885	0.963	P	0.59825	0.864	D	0.97294	0.9926	10	0.66056	D	0.02	-11.3828	18.9384	0.92595	0.0:0.0:1.0:0.0	.	109	Q9UI15	TAGL3_HUMAN	N	109;109;109;109;109;25;49	ENSP00000419105:D109N;ENSP00000377494:D109N;ENSP00000273368:D109N;ENSP00000391160:D109N;ENSP00000417904:D25N;ENSP00000420346:D49N	ENSP00000273368:D109N	D	+	1	0	TAGLN3	113202453	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	9.476000	0.97823	2.770000	0.95276	0.650000	0.86243	GAC	TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain	ENSG00000144834		0.483	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	-	0	145	0	G	NM_013259		111719763	1	tier1	-	no_errors	ENST00000273368	ensembl	human	known	74_37	missense	38.74	68	43	SNP	1.000	A	A	111719763	G	A	111719763	3	1	58	1	0	0	0	0	1	0	0	0	15587	1058	37	1	331	1	TAGLN3	3	111719763	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	13966	111719763	86302667	507	14890											
TAGLN3	29114	genome.wustl.edu	37	chr3	111730651	111730651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggaccctgatggctttaGgcagcgttgcagtcaccaag	10	8	13	10	1	1	2	1	1	0	1	1	3	1	3	2	3	2	4	2	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:111730651G>T	ENST00000393917.2	+	4	949	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	TAGLN3_ENST00000486460.1_Missense_Mutation_p.G49C|TAGLN3_ENST00000273368.4_Missense_Mutation_p.G133C|TAGLN3_ENST00000455401.2_Missense_Mutation_p.G133C|TAGLN3_ENST00000478951.1_Missense_Mutation_p.G133C	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	133	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						GATGGCTTTAGGCAGCGTTGC	0.552																																																	0													107	95	99					3																	111730651		2203	4300	6503	SO:0001583	missense	0			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.397G>T	3.37:g.111730651G>T	ENSP00000377494:p.Gly133Cys		D3DN64|Q96A74	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat	p.G133C	ENST00000393917.2	37	c.397	CCDS33816.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880664	0.91740	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460	D;D;D;D;T	0.95069	-3.6;-3.6;-3.6;-3.6;0.87	5.8	5.8	0.92144	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	H	0.97440	4.005	0.80722	D	1	D	0.61080	0.989	D	0.73708	0.981	D	0.99338	1.0911	10	0.87932	D	0	-13.3061	18.8218	0.92100	0.0:0.0:1.0:0.0	.	133	Q9UI15	TAGL3_HUMAN	C	133;133;133;133;133;49	ENSP00000419105:G133C;ENSP00000377494:G133C;ENSP00000273368:G133C;ENSP00000391160:G133C;ENSP00000417904:G49C	ENSP00000273368:G133C	G	+	1	0	TAGLN3	113213341	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.367000	0.97148	2.736000	0.93811	0.591000	0.81541	GGC	TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,prints_SM22_calponin,pfscan_CH-domain	ENSG00000144834		0.552	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	-	0	65	0	G	NM_013259		111730651	1	tier1	-	no_errors	ENST00000273368	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	T	T	111730651	G	T	111730651	3	4	58	1	0	0	0	0	1	0	0	0	15587	1000	35	3	407	3	TAGLN3	3	111730651	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	10888	111730651	86291779	508	14891											
SLC9A10	285335	genome.wustl.edu	37	chr3	112005610	112005610	+	Frame_Shift_Del	DEL	A	A	-																															cagggaggtcctcagtactgAaaaaaaactccttaaatatt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:112005610delA	ENST00000305815.5	-	2	281	c.29delT	c.(28-30)ttcfs	p.F10fs	SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	10					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTCAGTACTGAAAAAAAACTC	0.353																																																	0													57	58	58					3																	112005610		2203	4297	6500	SO:0001589	frameshift_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.29delT	3.37:g.112005610delA	ENSP00000306627:p.Phe10fs		Q6ZRP4|Q7RTP2	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.F10fs	ENST00000305815.5	37	c.29	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1		0	40	0	A	NM_183061		112005610	-1	tier1		no_errors	ENST00000305815	ensembl	human	known	74_37	frame_shift_del	24.32	28	9	DEL	0.000	-	-	112005610	A	-	112005610	7	5	58	1	0	1	0	1	0	0	0	0	14755	246	9	0	3616	0	SLC9A10	3	112005610	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	274959	112005610	86016820	509	14892											
KIAA2018	205717	genome.wustl.edu	37	chr3	113374557	113374557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgattcctttcaggctgaCgaattttggaaccactgctg	10	12	9	10	2	1	1	1	1	0	0	2	4	2	2	2	2	3	2	2	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:113374557C>T	ENST00000478658.1	-	5	5989	c.5972G>A	c.(5971-5973)cGt>cAt	p.R1991H	KIAA2018_ENST00000316407.4_Missense_Mutation_p.R1991H|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1991						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTCAGGCTGACGAATTTTGGA	0.478																																																	0													60	58	59					3																	113374557		1991	4169	6160	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5972G>A	3.37:g.113374557C>T	ENSP00000420721:p.Arg1991His		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R1991H	ENST00000478658.1	37	c.5972	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	c	16.14	3.039889	0.55003	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.35048	1.33;1.33	5.93	5.06	0.68205	.	0.057854	0.64402	D	0.000002	T	0.52208	0.1720	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56390	-0.7987	10	0.72032	D	0.01	-6.3731	17.3774	0.87396	0.0:0.8751:0.1249:0.0	.	1991	Q68DE3	K2018_HUMAN	H	1991	ENSP00000320794:R1991H;ENSP00000420721:R1991H	ENSP00000320794:R1991H	R	-	2	0	KIAA2018	114857247	1.000000	0.71417	0.993000	0.49108	0.627000	0.37826	5.364000	0.66110	1.533000	0.49186	-0.215000	0.12644	CGT	KIAA2018	-	NULL	ENSG00000176542		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0	71	0	C	NM_001009899		113374557	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	42.86	32	24	SNP	1.000	T	T	113374557	C	T	113374557	3	4	58	1	0	0	0	0	1	0	0	0	8295	536	19	1	769	1	KIAA2018	3	113374557	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1368947	113374557	84647873	510	14893											
KIAA2018	205717	genome.wustl.edu	37	chr3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-																															cccgttggaataaacaataaTttttttttgaacctggtcac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																																	0													90	87	88					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.I147fs	ENST00000478658.1	37	c.439	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	84	0	T	NM_001009899		113380090	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_del	25.61	61	21	DEL	1.000	-	-	113380090	T	-	113380090	7	5	58	1	0	1	0	1	0	0	0	0	8295	1493	52	0	6302	0	KIAA2018	3	113380090	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	5533	113380090	84642340	511	14894											
ZBTB20	26137	genome.wustl.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-																															cacctgggggtgtgcctgcaGggggggtcccattgctggca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:114058003delG	ENST00000474710.1	-	5	2253	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632																																					NSCLC(69;748 1344 9802 11203 30933)												1	Deletion - Frameshift(1)	large_intestine(1)											56	55	55					3																	114058003		2203	4300	6503	SO:0001589	frameshift_variant	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2075delC	3.37:g.114058003delG	ENSP00000419153:p.Pro692fs		Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P692fs	ENST00000474710.1	37	c.2075	CCDS54626.1	3																																																																																			ZBTB20	-	NULL	ENSG00000181722		0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1		0	69	0	G	NM_015642		114058003	-1	tier1		no_errors	ENST00000474710	ensembl	human	known	74_37	frame_shift_del	48.21	29	27	DEL	0.678	-	-	114058003	G	-	114058003	7	5	58	1	0	1	0	1	0	0	0	0	17577	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	677913	114058003	83964427	512	14895											
ZBTB20	26137	genome.wustl.edu	37	chr3	114070354	114070354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttctgtgacacgatgcGcgtgcactcgtcgatgactg	7	10	12	12	6	1	2	0	2	1	0	3	4	1	2	0	0	2	2	0	0	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:114070354G>A	ENST00000474710.1	-	4	749	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	ZBTB20_ENST00000481632.1_Missense_Mutation_p.R118C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R118C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R118C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R118C|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R118C|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R118C|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	191						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GACACGATGCGCGTGCACTCG	0.642																																					NSCLC(69;748 1344 9802 11203 30933)												0													75	60	65					3																	114070354		2203	4300	6503	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.571C>T	3.37:g.114070354G>A	ENSP00000419153:p.Arg191Cys		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R191C	ENST00000474710.1	37	c.571	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295464	0.60086	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.19	5.19	0.71726	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78795	-0.2064	10	0.87932	D	0	.	14.7427	0.69467	0.0:0.0:0.8465:0.1535	.	191	Q9HC78	ZBT20_HUMAN	C	118;118;118;118;191;118;118	ENSP00000420324:R118C;ENSP00000377375:R118C;ENSP00000418092:R118C;ENSP00000419902:R118C;ENSP00000419153:R191C;ENSP00000349803:R118C;ENSP00000417307:R118C	ENSP00000349803:R118C	R	-	1	0	ZBTB20	115553044	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.860000	0.62961	2.706000	0.92434	0.650000	0.86243	CGC	ZBTB20	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000181722		0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0	33	0	G	NM_015642		114070354	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.997	A	A	114070354	G	A	114070354	3	1	58	1	0	0	0	0	1	0	0	0	17577	1087	38	1	1662	1	ZBTB20	3	114070354	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	12351	114070354	83952076	513	14896											
TMEM39A	55254	genome.wustl.edu	37	chr3	119176962	119176962	+	Frame_Shift_Del	DEL	A	A	-																															gagcaaccaacaggtagatgAaaaaaaggaattcaaagagt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:119176962delA	ENST00000319172.5	-	3	659	c.239delT	c.(238-240)ttcfs	p.F80fs	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	80						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CAGGTAGATGAAAAAAAGGAA	0.428																																																	0													144	145	145					3																	119176962		2203	4300	6503	SO:0001589	frameshift_variant	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.239delT	3.37:g.119176962delA	ENSP00000326063:p.Phe80fs		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Frame_Shift_Del	DEL	pfam_Uncharacterised_TMEM39	p.F80fs	ENST00000319172.5	37	c.239	CCDS2987.1	3																																																																																			TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.428	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3		0	15	0	A	NM_018266		119176962	-1	tier1		no_errors	ENST00000319172	ensembl	human	known	74_37	frame_shift_del	33.33	14	7	DEL	1.000	-	-	119176962	A	-	119176962	7	5	58	1	0	1	0	1	0	0	0	0	16208	246	9	0	1255	0	TMEM39A	3	119176962	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	5106608	119176962	78845468	514	14897											
KTELC1	56983	genome.wustl.edu	37	chr3	119204182	119204182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatattcttaggtcagcaGcacagtggccatggaaaaag	13	10	10	8	0	3	0	1	0	2	0	3	1	3	1	1	3	2	2	1	3	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:119204182G>A	ENST00000295588.4	+	6	670	c.586G>A	c.(586-588)Gca>Aca	p.A196T		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	196					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TAGGTCAGCAGCACAGTGGCC	0.313																																																	0													89	98	95					3																	119204182		2203	4300	6503	SO:0001583	missense	0			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"KDELC family like 1"	615618	"chromosome 3 open reading frame 9", "KTEL (Lys-Tyr-Glu-Leu) containing 1"	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.586G>A	3.37:g.119204182G>A	ENSP00000295588:p.Ala196Thr		B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.A196T	ENST00000295588.4	37	c.586	CCDS2988.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.326148|2.326148	0.41197|0.41197	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	T|.	0.22134|.	1.97|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.190933|.	0.43919|.	D|.	0.000504|.	T|T	0.35711|0.35711	0.0941|0.0941	N|N	0.03999|0.03999	-0.3|-0.3	0.39196|0.39196	D|D	0.963051|0.963051	B|.	0.21452|.	0.056|.	B|.	0.23419|.	0.046|.	T|T	0.34004|0.34004	-0.9846|-0.9846	10|5	0.13108|.	T|.	0.6|.	-15.2928|-15.2928	14.8705|14.8705	0.70453|0.70453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196|.	Q8NBL1|.	PGLT1_HUMAN|.	T|N	196|182	ENSP00000295588:A196T|.	ENSP00000295588:A196T|.	A|S	+|+	1|2	0|0	POGLUT1|POGLUT1	120686872|120686872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.424000|8.424000	0.90267|0.90267	2.634000|2.634000	0.89283|0.89283	0.655000|0.655000	0.94253|0.94253	GCA|AGC	POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000163389		0.313	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2		0	74	0	G	NM_152305		119204182	1			no_errors	ENST00000295588	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	119204182	G	A	119204182	3	1	58	1	0	0	0	0	1	0	0	0	8611	971	34	3	608	3	KTELC1	3	119204182	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	27220	119204182	78818248	515	14898											
POLQ	10721	genome.wustl.edu	37	chr3	121208121	121208121	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactactgactgcttcacaGggcatttgtctctctattat	9	16	6	10	0	3	1	1	1	2	0	4	1	3	1	0	1	3	2	0	1	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:121208121G>T	ENST00000264233.5	-	16	3785	c.3657C>A	c.(3655-3657)ccC>ccA	p.P1219P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1219					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGCTTCACAGGGCATTTGTC	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													187	194	191					3																	121208121		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3657C>A	3.37:g.121208121G>T			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1219	ENST00000264233.5	37	c.3657	CCDS33833.1	3																																																																																			POLQ	-	NULL	ENSG00000051341		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	64	0	G	NM_199420		121208121	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	40.32	37	25	SNP	0.244	T	T	121208121	G	T	121208121	2	4	58	1	0	0	0	0	0	0	0	1	12247	987	35	3		3	POLQ	3	121208121	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2003939	121208121	76814309	516	14899											
ADCY5	111	genome.wustl.edu	37	chr3	123010123	123010123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcattgcgccgctcgCgggccaggaagtgagcggcc	6	6	15	14	5	2	1	2	1	0	0	3	2	2	2	3	3	2	2	3	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:123010123C>T	ENST00000462833.1	-	18	4376	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	ADCY5_ENST00000491190.1_Missense_Mutation_p.R713H|ADCY5_ENST00000309879.5_Missense_Mutation_p.R705H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1055					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R1055H(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGCCGCTCGCGGGCCAGGAA	0.602																																																	1	Substitution - Missense(1)	ovary(1)											84	71	76					3																	123010123		2203	4300	6503	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3164G>A	3.37:g.123010123C>T	ENSP00000419361:p.Arg1055His		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R1055H	ENST00000462833.1	37	c.3164	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837652	0.91117	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.81996	-1.14;-1.54;-1.56	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.076544	0.53938	D	0.000055	D	0.84719	0.5534	M	0.71871	2.18	0.58432	D	0.999999	P;D	0.56035	0.602;0.974	B;P	0.51918	0.042;0.684	D	0.85312	0.1079	10	0.56958	D	0.05	.	8.6843	0.34227	0.0:0.8609:0.0:0.1391	.	1055;713	O95622;B3KWA8	ADCY5_HUMAN;.	H	1055;713;705	ENSP00000419361:R1055H;ENSP00000418537:R713H;ENSP00000308685:R705H	ENSP00000308685:R705H	R	-	2	0	ADCY5	124492813	0.993000	0.37304	0.992000	0.48379	0.962000	0.63368	3.012000	0.49575	2.362000	0.80069	0.563000	0.77884	CGC	ADCY5	-	smart_A/G_cyclase	ENSG00000173175		0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	-	0	67	0	C	XM_171048		123010123	-1	tier1	-	no_errors	ENST00000462833	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	T	T	123010123	C	T	123010123	3	4	58	1	0	0	0	0	1	0	0	0	297	768	27	1	637	1	ADCY5	3	123010123	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1802002	123010123	75012307	517	14900											
KALRN	8997	genome.wustl.edu	37	chr3	124397062	124397062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgttcatggcatactctaCgcatgagaaagcgggcggaa	12	8	12	9	3	2	1	1	1	1	1	2	3	2	2	0	3	3	3	0	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:124397062C>T	ENST00000462213.1	+	2	294	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	KALRN_ENST00000360013.3_Missense_Mutation_p.R2407C|KALRN_ENST00000428018.2_Missense_Mutation_p.R678C|KALRN_ENST00000291478.5_Missense_Mutation_p.R710C			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2406					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATACTCTACGCATGAGAAA	0.498																																																	0													148	145	146					3																	124397062		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.70C>T	3.37:g.124397062C>T	ENSP00000418790:p.Arg24Cys		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R2407C	ENST00000462213.1	37	c.7219		3	.	.	.	.	.	.	.	.	.	.	C	31	5.101318	0.94245	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213	T;T;T;T	0.65364	-0.15;0.42;0.42;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.75442	-0.3316	10	0.62326	D	0.03	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	710;2406	C9JQ37;O60229	.;KALRN_HUMAN	C	2407;710;678;24	ENSP00000353109:R2407C;ENSP00000291478:R710C;ENSP00000402419:R678C;ENSP00000418790:R24C	ENSP00000291478:R710C	R	+	1	0	KALRN	125879752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.079000	0.76829	2.861000	0.98227	0.655000	0.94253	CGC	KALRN	-	NULL	ENSG00000160145		0.498	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000356377.1	-	0	48	0	C	NM_003947		124397062	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	T	T	124397062	C	T	124397062	3	4	58	1	0	0	0	0	1	0	0	0	8002	536	19	1	7573	1	KALRN	3	124397062	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1386939	124397062	73625368	518	14901											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125831672	125831672	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcctccacaaagagtcGgcctgctgcaatgcaattct	10	9	10	12	1	1	1	0	0	1	1	4	2	3	2	3	2	3	3	3	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:125831672G>A	ENST00000393434.2	-	19	2483	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	712	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACAAAGAGTCGGCCTGCTGCA	0.557																																																	0													131	123	126					3																	125831672		2203	4300	6503	SO:0001587	stop_gained	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2134C>T	3.37:g.125831672G>A	ENSP00000377083:p.Arg712*		B4DG36|E9PBX3|Q68CS1	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.R712*	ENST00000393434.2	37	c.2134	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.643042	0.99227	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	.	.	.	4.51	4.51	0.55191	.	0.063153	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8845	0.41253	0.0:0.0:0.7962:0.2038	.	.	.	.	X	722;712;611;712	.	ENSP00000273450:R722X	R	-	1	2	ALDH1L1	127314362	0.999000	0.42202	0.995000	0.50966	0.852000	0.48524	1.904000	0.39868	2.331000	0.79229	0.467000	0.42956	CGA	ALDH1L1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000144908		0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	-	0	30	0	G	NM_012190		125831672	-1	tier1	-	no_errors	ENST00000393434	ensembl	human	known	74_37	nonsense	51.85	13	14	SNP	0.985	A	A	125831672	G	A	125831672	4	1	58	1	0	0	0	0	0	1	0	0	494	1124	39	1	594	1	ALDH1L1	3	125831672	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1434610	125831672	72190758	519	14902											
KLF15	28999	genome.wustl.edu	37	chr3	126070691	126070691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctatactgacctccagcCgcagcctggccaggtgcagg	7	7	12	15	2	0	1	0	1	0	0	2	1	1	1	5	3	4	3	5	3	2	2	rs557895851		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:126070691C>T	ENST00000296233.3	-	2	1305	c.1075G>A	c.(1075-1077)Ggc>Agc	p.G359S	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	359					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GACCTCCAGCCGCAGCCTGGC	0.607																																																	0													51	55	54					3																	126070691		2203	4300	6503	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1075G>A	3.37:g.126070691C>T	ENSP00000296233:p.Gly359Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G359S	ENST00000296233.3	37	c.1075	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669578	0.88348	.	.	ENSG00000163884	ENST00000296233	T	0.72505	-0.66	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046753	0.85682	D	0.000000	T	0.76709	0.4025	L	0.31926	0.97	0.58432	D	0.999995	D	0.76494	0.999	D	0.65874	0.939	T	0.78537	-0.2166	10	0.66056	D	0.02	.	16.9708	0.86298	0.0:1.0:0.0:0.0	.	359	Q9UIH9	KLF15_HUMAN	S	359	ENSP00000296233:G359S	ENSP00000296233:G359S	G	-	1	0	KLF15	127553381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.875000	0.63072	2.688000	0.91661	0.491000	0.48974	GGC	KLF15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000163884		0.607	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	-	0	77	0	C	NM_014079		126070691	-1	tier1	-	no_errors	ENST00000296233	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	T	T	126070691	C	T	126070691	3	4	58	1	0	0	0	0	1	0	0	0	8370	652	23	1	183	1	KLF15	3	126070691	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	239019	126070691	71951739	520	14903											
MCM2	4171	genome.wustl.edu	37	chr3	127339610	127339610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcggaggcccacgcgCgcatccatctgcgggactat	7	6	14	14	5	1	0	0	0	1	0	2	2	2	2	2	4	1	2	2	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:127339610C>T	ENST00000265056.7	+	14	2579	c.2335C>T	c.(2335-2337)Cgc>Tgc	p.R779C	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	779					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGCCCACGCGCGCATCCATCT	0.582																																																	0													119	110	113					3																	127339610		2203	4300	6503	SO:0001583	missense	0			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"mitotin"	116945	"minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)", "MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2335C>T	3.37:g.127339610C>T	ENSP00000265056:p.Arg779Cys		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase	p.R779C	ENST00000265056.7	37	c.2335	CCDS3043.1	3	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964841	0.53507	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.12147	2.71	5.7	4.82	0.62117	.	0.049843	0.85682	D	0.000000	T	0.50956	0.1646	H	0.96576	3.845	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	P;P;D	0.65140	0.806;0.903;0.932	T	0.71199	-0.4663	10	0.87932	D	0	-30.9916	16.2147	0.82198	0.134:0.866:0.0:0.0	.	829;649;779	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	C	779;683;829	ENSP00000265056:R779C	ENSP00000265056:R779C	R	+	1	0	MCM2	128822300	1.000000	0.71417	0.920000	0.36463	0.000000	0.00434	5.713000	0.68415	1.407000	0.46875	-0.175000	0.13238	CGC	MCM2	-	pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	ENSG00000073111		0.582	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	-	0	43	0	C			127339610	1	tier1	-	no_errors	ENST00000265056	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.996	T	T	127339610	C	T	127339610	3	4	58	1	0	0	0	0	1	0	0	0	9424	768	27	1	2389	1	MCM2	3	127339610	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1268919	127339610	70682820	521	14904											
PPP2R3A	5523	genome.wustl.edu	37	chr3	135768155	135768155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctgtcttctagcaaaGcccaactgcagctctctaga	10	12	6	13	0	5	1	1	0	4	1	6	1	5	1	1	0	5	3	1	0	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:135768155G>T	ENST00000264977.3	+	5	3038	c.2421G>T	c.(2419-2421)aaG>aaT	p.K807N	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.K186N|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.K71N|PPP2R3A_ENST00000492624.2_Missense_Mutation_p.K71N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	807					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTAGCAAAGCCCAACTGCA	0.383																																																	0													155	150	152					3																	135768155		2203	4300	6503	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2421G>T	3.37:g.135768155G>T	ENSP00000264977:p.Lys807Asn		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.K807N	ENST00000264977.3	37	c.2421	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909009	0.52439	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546;ENST00000492624	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.4	-1.79	0.07932	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	L	0.31845	0.965	0.35353	D	0.787515	B;B	0.25105	0.02;0.118	B;B	0.33254	0.034;0.16	T	0.06881	-1.0802	10	0.51188	T	0.08	.	6.0958	0.20019	0.5222:0.0:0.3471:0.1307	.	186;807	Q06190-2;Q06190	.;P2R3A_HUMAN	N	807;71;186;71	ENSP00000264977:K807N;ENSP00000419344:K71N;ENSP00000334748:K186N;ENSP00000417231:K71N	ENSP00000264977:K807N	K	+	3	2	PPP2R3A	137250845	0.638000	0.27225	0.972000	0.41901	0.997000	0.91878	-0.098000	0.11024	-0.473000	0.06871	0.555000	0.69702	AAG	PPP2R3A	-	NULL	ENSG00000073711		0.383	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	-	0	47	0	G	NM_002718		135768155	1	tier1	-	no_errors	ENST00000264977	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.987	T	T	135768155	G	T	135768155	3	4	58	1	0	0	0	0	1	0	0	0	12430	962	34	3	2571	3	PPP2R3A	3	135768155	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8428545	135768155	62254275	522	14905											
DZIP1L	199221	genome.wustl.edu	37	chr3	137822704	137822704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacatccagggtgctaatgCgtctccagtccatgctatca	9	11	8	13	1	2	0	1	0	1	0	5	0	4	0	3	1	4	2	3	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:137822704C>T	ENST00000327532.2	-	2	472	c.110G>A	c.(109-111)cGc>cAc	p.R37H	DZIP1L_ENST00000469243.1_Missense_Mutation_p.R37H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	37					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGTGCTAATGCGTCTCCAGTC	0.597																																																	0													95	99	97					3																	137822704		2203	4300	6503	SO:0001583	missense	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.110G>A	3.37:g.137822704C>T	ENSP00000332148:p.Arg37His		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.R37H	ENST00000327532.2	37	c.110	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841485	0.91197	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706;ENST00000467030;ENST00000492010	T;T;T	0.47528	0.84;0.84;0.84	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.70596	0.3242	M	0.79123	2.44	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74250	-0.3726	10	0.59425	D	0.04	-8.5047	18.0434	0.89325	0.0:1.0:0.0:0.0	.	37;37	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	H	37	ENSP00000332148:R37H;ENSP00000419486:R37H;ENSP00000420600:R37H	ENSP00000332148:R37H	R	-	2	0	DZIP1L	139305394	1.000000	0.71417	0.925000	0.36789	0.648000	0.38561	5.332000	0.65911	2.348000	0.79779	0.655000	0.94253	CGC	DZIP1L	-	NULL	ENSG00000158163		0.597	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	-	0	60	0	C	NM_173543		137822704	-1	tier1	-	no_errors	ENST00000327532	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	137822704	C	T	137822704	3	4	58	1	0	0	0	0	1	0	0	0	4878	768	27	1	2262	1	DZIP1L	3	137822704	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2054549	137822704	60199726	523	14906											
PIK3CB	5291	genome.wustl.edu	37	chr3	138456559	138456559	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatacatacctggaactgaAttagtggatgatcaccaaaa	17	10	7	7	0	1	2	1	2	0	0	1	4	1	4	2	2	3	0	2	2	8	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:138456559A>C	ENST00000477593.1	-	5	864	c.791T>G	c.(790-792)aTt>aGt	p.I264S	PIK3CB_ENST00000289153.2_Missense_Mutation_p.I264S			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	264	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTGGAACTGAATTAGTGGATG	0.313																																																	0													75	70	72					3																	138456559		2203	4300	6503	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.791T>G	3.37:g.138456559A>C	ENSP00000418143:p.Ile264Ser		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.I264S	ENST00000477593.1	37	c.791	CCDS3104.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.47|12.47	1.947153|1.947153	0.34377|0.34377	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000462294|ENST00000477593;ENST00000289153	.|T;T	.|0.42513	.|0.97;0.97	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Phosphoinositide 3-kinase, ras-binding (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	.|B	.|0.33583	.|0.418	.|B	.|0.32393	.|0.145	T|T	0.10314|0.10314	-1.0635|-1.0635	5|10	.|0.11794	.|T	.|0.64	-22.2462|-22.2462	16.1917|16.1917	0.81992|0.81992	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|264	.|P42338	.|PK3CB_HUMAN	V|S	132|264	.|ENSP00000418143:I264S;ENSP00000289153:I264S	.|ENSP00000289153:I264S	F|I	-|-	1|2	0|0	PIK3CB|PIK3CB	139939249|139939249	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.610000|0.610000	0.37248|0.37248	5.958000|5.958000	0.70330|0.70330	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	TTC|ATT	PIK3CB	-	pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom	ENSG00000051382		0.313	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	-	0	41	0	A			138456559	-1	tier1	-	no_errors	ENST00000289153	ensembl	human	known	74_37	missense	40.62	19	13	SNP	1.000	C	C	138456559	A	C	138456559	3	2	58	1	0	0	0	0	1	0	0	0	11953	101	4	4	2495	4	PIK3CB	3	138456559	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	633855	138456559	59565871	524	14907											
PRR23A	729627	genome.wustl.edu	37	chr3	138724365	138724365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgtttcgggagcggcGggtgcgcgtggggacctgga	4	6	23	8	6	0	0	0	0	0	0	1	4	0	3	1	7	2	1	1	7	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:138724365G>A	ENST00000383163.2	-	1	745	c.746C>T	c.(745-747)cCg>cTg	p.P249L	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	249	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						CGGGAGCGGCGGGTGCGCGTG	0.652																																																	0													12	13	13					3																	138724365		692	1591	2283	SO:0001583	missense	0				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.746C>T	3.37:g.138724365G>A	ENSP00000372649:p.Pro249Leu			Missense_Mutation	SNP	pfam_UPF0572	p.P249L	ENST00000383163.2	37	c.746	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467154	0.26335	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.09	1.27	0.21489	.	0.158142	0.30302	N	0.009924	T	0.28333	0.0700	M	0.66939	2.045	0.09310	N	1	P	0.45902	0.868	B	0.37091	0.241	T	0.29212	-1.0019	9	0.87932	D	0	.	4.4714	0.11714	0.1311:0.2306:0.6383:0.0	.	249	A6NEV1	PR23A_HUMAN	L	249	.	ENSP00000372649:P249L	P	-	2	0	PRR23A	140207055	0.124000	0.22315	0.009000	0.14445	0.005000	0.04900	1.122000	0.31295	0.349000	0.23975	-0.440000	0.05779	CCG	PRR23A	-	pfam_UPF0572	ENSG00000206260		0.652	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	HGNC	protein_coding	OTTHUMT00000361503.1	-	0	48	0	G	NM_001134659		138724365	-1	tier1	-	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	57.89	24	33	SNP	0.009	A	A	138724365	G	A	138724365	3	1	58	1	0	0	0	0	1	0	0	0	12636	1116	39	1	58	1	PRR23A	3	138724365	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	267806	138724365	59298065	525	14908											
CLSTN2	64084	genome.wustl.edu	37	chr3	140123554	140123554	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccccacagtacagccagAtctgcaactatgaaatcgtc	12	8	7	14	1	1	2	0	1	1	1	4	2	2	2	3	0	4	3	3	0	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:140123554A>T	ENST00000458420.3	+	4	773	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTACAGCCAGATCTGCAACTA	0.527										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													141	119	127					3																	140123554		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"Cadherins / Cadherin-related"	17448	protein-coding gene	gene with protein product	"cadherin-related family member 13"	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.583A>T	3.37:g.140123554A>T	ENSP00000402460:p.Ile195Phe		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I195F	ENST00000458420.3	37	c.583	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478724	0.84747	.	.	ENSG00000158258	ENST00000458420	T	0.57436	0.4	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.110474	0.64402	D	0.000016	T	0.78477	0.4289	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83901	0.0290	10	0.87932	D	0	-5.6889	13.8537	0.63513	1.0:0.0:0.0:0.0	.	195	Q9H4D0	CSTN2_HUMAN	F	195	ENSP00000402460:I195F	ENSP00000402460:I195F	I	+	1	0	CLSTN2	141606244	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.452000	0.80683	2.153000	0.67306	0.460000	0.39030	ATC	CLSTN2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000158258		0.527	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0	91	0	A	NM_022131		140123554	1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T	T	140123554	A	T	140123554	3	4	58	1	0	0	0	0	1	0	0	0	3569	333	12	5	597	5	CLSTN2	3	140123554	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1399189	140123554	57898876	526	14909											
ZBTB38	253461	genome.wustl.edu	37	chr3	141164136	141164136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaaggctcctcaggataAaccctttgaggaagaagaaa	15	6	13	7	0	1	3	1	1	0	2	2	6	2	6	2	5	1	1	2	5	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:141164136A>G	ENST00000514251.1	+	4	3185	c.2906A>G	c.(2905-2907)aAa>aGa	p.K969R	ZBTB38_ENST00000321464.5_Missense_Mutation_p.K970R|ZBTB38_ENST00000441582.2_Missense_Mutation_p.K969R					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCTCAGGATAAACCCTTTGAG	0.522																																																	0													30	31	31					3																	141164136		1914	4135	6049	SO:0001583	missense	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2906A>G	3.37:g.141164136A>G	ENSP00000426387:p.Lys969Arg			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K970R	ENST00000514251.1	37	c.2909	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	A	8.428	0.848062	0.17034	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.10288	2.89;2.89;2.9	5.65	3.31	0.37934	.	0.334109	0.26457	N	0.024277	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.35649	-0.9780	9	.	.	.	-14.123	5.5671	0.17177	0.7071:0.1458:0.147:0.0	.	970;969	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	R	969;969;970	ENSP00000426387:K969R;ENSP00000406955:K969R;ENSP00000372635:K970R	.	K	+	2	0	ZBTB38	142646826	0.994000	0.37717	0.773000	0.31616	0.111000	0.19643	3.317000	0.51968	0.982000	0.38575	0.528000	0.53228	AAA	ZBTB38	-	NULL	ENSG00000177311		0.522	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	-	0	18	0	A			141164136	1	tier1	-	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.060	G	G	141164136	A	G	141164136	3	3	58	1	0	0	0	0	1	0	0	0	17587	14	1	4	2908	4	ZBTB38	3	141164136	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1040582	141164136	56858294	527	14910											
PLOD2	5352	genome.wustl.edu	37	chr3	145788602	145788602	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggatgcatgaagctccAgccttttcgtggtgactcaa	9	10	10	12	1	1	2	1	2	0	0	3	3	2	3	3	2	3	2	3	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:145788602A>C	ENST00000360060.3	-	19	2293	c.2116T>G	c.(2116-2118)Tgg>Ggg	p.W706G	RP11-274H2.2_ENST00000480247.1_RNA|RP11-274H2.2_ENST00000494745.2_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.W672G|PLOD2_ENST00000282903.5_Missense_Mutation_p.W727G|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.W387G	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	706	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATGAAGCTCCAGCCTTTTCGT	0.368																																																	0													62	60	61					3																	145788602		2202	4299	6501	SO:0001583	missense	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.2116T>G	3.37:g.145788602A>C	ENSP00000353170:p.Trp706Gly		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.W727G	ENST00000360060.3	37	c.2179	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985390	0.74474	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.51	5.51	0.81932	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	L	0.53671	1.685	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.995	D	0.84781	0.0773	10	0.62326	D	0.03	-32.3888	15.6107	0.76713	1.0:0.0:0.0:0.0	.	672;706;727;387	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	G	387;727;706;672	ENSP00000419354:W387G;ENSP00000282903:W727G;ENSP00000353170:W706G;ENSP00000420094:W672G	ENSP00000282903:W727G	W	-	1	0	PLOD2	147271292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.953000	0.93041	2.083000	0.62718	0.477000	0.44152	TGG	PLOD2	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000152952		0.368	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1	-	0	14	0	A	NM_000935		145788602	-1	tier1	-	no_errors	ENST00000282903	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	C	C	145788602	A	C	145788602	3	2	58	1	0	0	0	0	1	0	0	0	12141	188	7	4	101	4	PLOD2	3	145788602	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	4624466	145788602	52233828	528	14911											
CPB1	1360	genome.wustl.edu	37	chr3	148558742	148558742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaaccacatttgagggaCgcgctatttacctcctgaag	10	10	10	11	3	0	2	0	2	0	0	2	4	1	4	3	2	2	1	3	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:148558742C>T	ENST00000491148.1	+	6	788	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	CPB1_ENST00000282957.4_Missense_Mutation_p.R152C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	152						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R152C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTTGAGGGACGCGCTATTTA	0.428																																																	1	Substitution - Missense(1)	ovary(1)											145	127	133					3																	148558742		2203	4300	6503	SO:0001583	missense	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.454C>T	3.37:g.148558742C>T	ENSP00000417222:p.Arg152Cys		O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.R152C	ENST00000491148.1	37	c.454	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729464	0.48833	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.28895	1.59;1.59	5.29	3.44	0.39384	Peptidase M14, carboxypeptidase A (3);	0.171581	0.51477	D	0.000097	T	0.69396	0.3106	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.80993	-0.1134	10	0.87932	D	0	.	13.9431	0.64069	0.2933:0.7067:0.0:0.0	.	152	P15086	CBPB1_HUMAN	C	152	ENSP00000417222:R152C;ENSP00000282957:R152C	ENSP00000282957:R152C	R	+	1	0	CPB1	150041432	0.996000	0.38824	0.626000	0.29213	0.501000	0.33797	3.484000	0.53201	0.561000	0.29186	0.655000	0.94253	CGC	CPB1	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	ENSG00000153002		0.428	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	-	0	35	0	C	NM_001871		148558742	1	tier1	-	no_errors	ENST00000282957	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.992	T	T	148558742	C	T	148558742	3	4	58	1	0	0	0	0	1	0	0	0	3803	536	19	1	472	1	CPB1	3	148558742	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2770140	148558742	49463688	529	14912											
HLTF	6596	genome.wustl.edu	37	chr3	148766718	148766718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgctgagcatttggatttCgtatggcatgtccttcatcc	6	16	9	10	1	2	1	1	1	1	0	5	2	4	2	2	2	2	4	2	2	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:148766718C>T	ENST00000310053.5	-	16	1881	c.1688G>A	c.(1687-1689)cGa>cAa	p.R563Q	HLTF_ENST00000392912.2_Missense_Mutation_p.R563Q|HLTF_ENST00000465259.1_Missense_Mutation_p.R562Q|HLTF_ENST00000494055.1_Missense_Mutation_p.R563Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	563	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R563Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATTTGGATTTCGTATGGCATG	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											170	153	159					3																	148766718		2203	4298	6501	SO:0001583	missense	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1688G>A	3.37:g.148766718C>T	ENSP00000308944:p.Arg563Gln		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R563Q	ENST00000310053.5	37	c.1688	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.596569	0.96602	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.24	5.84	5.84	0.93424	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.97536	0.9193	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.993	D	0.97919	1.0313	9	0.72032	D	0.01	-8.38	18.9021	0.92446	0.0:1.0:0.0:0.0	.	563;563;563	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	Q	562;563;563;563;27	ENSP00000420745:R562Q;ENSP00000308944:R563Q;ENSP00000376644:R563Q;ENSP00000420429:R563Q;ENSP00000420106:R27Q	ENSP00000308944:R563Q	R	-	2	0	HLTF	150249408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.842000	0.75379	2.751000	0.94390	0.655000	0.94253	CGA	HLTF	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000071794		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	-	0	83	0	C			148766718	-1	tier1	-	no_errors	ENST00000310053	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	148766718	C	T	148766718	3	4	58	1	0	0	0	0	1	0	0	0	7242	884	31	1	1381	1	HLTF	3	148766718	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	207976	148766718	49255712	530	14913											
EIF2A	83939	genome.wustl.edu	37	chr3	150293481	150293481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaaccacaatcaggaaacGataagccattatcaaaaaca	21	6	5	9	1	2	1	2	1	0	0	2	3	2	2	2	1	4	0	2	1	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:150293481G>A	ENST00000460851.1	+	11	1538	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.D472N|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000482471.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.D263N|EIF2A_ENST00000406576.3_Missense_Mutation_p.D416N|EIF2A_ENST00000487799.1_Missense_Mutation_p.D452N			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	477					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCAGGAAACGATAAGCCATT	0.353																																																	0													75	69	71					3																	150293481		1833	4081	5914	SO:0001583	missense	0			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1429G>A	3.37:g.150293481G>A	ENSP00000417229:p.Asp477Asn		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	pfam_TIF_beta_prop-like,pirsf_TIF2A	p.D477N	ENST00000460851.1	37	c.1429	CCDS46935.1	3	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155908	0.57259	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.41065	1.57;1.57;1.57;1.57;1.01	5.57	5.57	0.84162	.	0.215223	0.46758	D	0.000267	T	0.37461	0.1004	L	0.41710	1.295	0.51482	D	0.999923	B;B;B	0.27910	0.193;0.031;0.071	B;B;B	0.23852	0.049;0.009;0.018	T	0.09465	-1.0673	10	0.25106	T	0.35	-11.1353	19.5529	0.95328	0.0:0.0:1.0:0.0	.	416;452;477	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	N	452;477;416;472;263	ENSP00000420537:D452N;ENSP00000417229:D477N;ENSP00000385292:D416N;ENSP00000273435:D472N;ENSP00000372513:D263N	ENSP00000273435:D472N	D	+	1	0	EIF2A	151776171	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	6.986000	0.76200	2.621000	0.88768	0.655000	0.94253	GAT	EIF2A	-	pirsf_TIF2A	ENSG00000144895		0.353	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	-	0	20	0	G	NM_032025		150293481	1	tier1	-	no_errors	ENST00000460851	ensembl	human	known	74_37	missense	51.43	17	18	SNP	1.000	A	A	150293481	G	A	150293481	3	1	58	1	0	0	0	0	1	0	0	0	5009	1058	37	1	1471	1	EIF2A	3	150293481	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1526763	150293481	47728949	531	14914											
GPR87	53836	genome.wustl.edu	37	chr3	151012592	151012593	+	Frame_Shift_Ins	INS	-	-	A																															ctgtacatccgagagtccccINSaaatggcttgaccaccttca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:151012592_151012593insA	ENST00000260843.4	-	3	905_906	c.441_442insT	c.(439-444)tttgggfs	p.G148fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	148					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGAGAGTCCCCAAATGGCTTGA	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"GPCR / Class A : Orphans"	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.442dupT	3.37:g.151012595_151012595dupA	ENSP00000260843:p.Gly148fs		Q5KU35|Q96JZ8|Q9BXC2	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.G147fs	ENST00000260843.4	37	c.442_441	CCDS3157.1	3																																																																																			GPR87	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y14_rcpt	ENSG00000138271		0.416	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	HGNC	protein_coding	OTTHUMT00000357788.1		0	45	0	-			151012593	-1	tier1		no_errors	ENST00000260843	ensembl	human	known	74_37	frame_shift_ins	24.14	22	7	INS	1.000:0.999	A	A	151012593	-	A	151012592	7	5	58	1	0	1	1	0	0	0	0	0	6742	594	21	0	638	0	GPR87	3	151012592	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	719111	151012592	47009838	532	14915											
IGSF10	285313	genome.wustl.edu	37	chr3	151164703	151164703	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagttctatatgggctgatAatccgcccccttccgccaat	8	11	9	13	2	1	1	0	1	1	0	3	2	3	2	5	2	0	2	5	2	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:151164703A>G	ENST00000282466.3	-	4	3065	c.3066T>C	c.(3064-3066)atT>atC	p.I1022I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1022					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGGGCTGATAATCCGCCCCC	0.473																																																	0													76	79	78					3																	151164703		2203	4300	6503	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3066T>C	3.37:g.151164703A>G			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I1022	ENST00000282466.3	37	c.3066	CCDS3160.1	3																																																																																			IGSF10	-	NULL	ENSG00000152580		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	40	0	A	NM_178822		151164703	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	silent	45.45	24	20	SNP	0.001	G	G	151164703	A	G	151164703	2	3	58	1	0	0	0	0	0	0	0	1	7624	358	13	4		4	IGSF10	3	151164703	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	152111	151164703	46857727	533	14916											
IGSF10	285313	genome.wustl.edu	37	chr3	151165983	151165983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgggataccagtagaatGgcatggaagatcaagtgttt	13	11	12	5	0	2	2	1	0	1	2	2	4	2	4	1	3	1	3	1	3	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:151165983G>T	ENST00000282466.3	-	4	1785	c.1786C>A	c.(1786-1788)Cat>Aat	p.H596N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	596	Ig-like C2-type 2.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGTAGAATGGCATGGAAGA	0.418																																																	0													117	103	108					3																	151165983		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1786C>A	3.37:g.151165983G>T	ENSP00000282466:p.His596Asn		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.H596N	ENST00000282466.3	37	c.1786	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.611682	0.00835	.	.	ENSG00000152580	ENST00000282466	T	0.65916	-0.18	5.34	3.53	0.40419	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.736150	0.11628	N	0.545107	T	0.38214	0.1032	N	0.10809	0.05	0.09310	N	1	B	0.13145	0.007	B	0.20384	0.029	T	0.27088	-1.0084	10	0.17832	T	0.49	.	5.1417	0.14963	0.0765:0.2674:0.518:0.1382	.	596	Q6WRI0	IGS10_HUMAN	N	596	ENSP00000282466:H596N	ENSP00000282466:H596N	H	-	1	0	IGSF10	152648673	0.097000	0.21791	0.075000	0.20258	0.102000	0.19082	1.098000	0.31000	0.612000	0.30071	0.650000	0.86243	CAT	IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000152580		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	59	0	G	NM_178822		151165983	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.291	T	T	151165983	G	T	151165983	3	4	58	1	0	0	0	0	1	0	0	0	7624	1348	47	3	6145	3	IGSF10	3	151165983	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1280	151165983	46856447	534	14917											
CCNL1	57018	genome.wustl.edu	37	chr3	156866204	156866204	+	Frame_Shift_Del	DEL	T	T	-																															ctctgagatcgagaacgagaTtttttccttttatgaccatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:156866204delT	ENST00000295926.3	-	11	1525	c.1407delA	c.(1405-1407)aaafs	p.K469fs	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	469					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GAGAACGAGATTTTTTCCTTT	0.453																																																	0													271	256	261					3																	156866204		2203	4300	6503	SO:0001589	frameshift_variant	0			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1407delA	3.37:g.156866204delT	ENSP00000295926:p.Lys469fs		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Frame_Shift_Del	DEL	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.K469fs	ENST00000295926.3	37	c.1407	CCDS3178.1	3																																																																																			CCNL1	-	pirsf_Cyclin_L	ENSG00000163660		0.453	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1		0	122	0	T	NM_020307		156866204	-1	tier1		no_errors	ENST00000295926	ensembl	human	known	74_37	frame_shift_del	34.65	66	35	DEL	0.503	-	-	156866204	T	-	156866204	7	5	58	1	0	1	0	1	0	0	0	0	2938	1490	52	0	177	0	CCNL1	3	156866204	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	5700221	156866204	41156226	535	14918											
SLITRK3	22865	genome.wustl.edu	37	chr3	164906498	164906498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccaccatcctcaaacagCctgtggcattgcatttggat	9	11	7	14	0	1	0	1	0	0	0	3	1	3	1	5	2	3	2	5	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:164906498C>T	ENST00000475390.1	-	2	2564	c.2121G>A	c.(2119-2121)agG>agA	p.R707R	SLITRK3_ENST00000241274.3_Silent_p.R707R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	707					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTCAAACAGCCTGTGGCATT	0.577										HNSCC(40;0.11)																																							0													94	69	78					3																	164906498		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2121G>A	3.37:g.164906498C>T			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R707	ENST00000475390.1	37	c.2121	CCDS3197.1	3																																																																																			SLITRK3	-	NULL	ENSG00000121871		0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	28	0	C	NM_014926		164906498	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.998	T	T	164906498	C	T	164906498	2	4	58	1	0	0	0	0	0	0	0	1	14789	738	26	3		3	SLITRK3	3	164906498	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8040294	164906498	33115932	536	14919											
SLITRK3	22865	genome.wustl.edu	37	chr3	164907944	164907944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttccagctggagctcCatcaggcttctgccaatgtg	6	14	9	12	0	3	0	1	0	2	0	5	1	5	1	3	2	3	3	3	2	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:164907944C>A	ENST00000475390.1	-	2	1118	c.675G>T	c.(673-675)atG>atT	p.M225I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.M225I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	225					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.M225I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTGGAGCTCCATCAGGCTTC	0.443										HNSCC(40;0.11)																																							1	Substitution - Missense(1)	lung(1)											72	76	75					3																	164907944		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.675G>T	3.37:g.164907944C>A	ENSP00000420091:p.Met225Ile		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.M225I	ENST00000475390.1	37	c.675	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219242	0.58560	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.50813	0.73;0.73	5.86	5.86	0.93980	.	0.000000	0.45867	D	0.000328	T	0.65165	0.2665	L	0.50333	1.59	0.50313	D	0.999861	P	0.49559	0.925	D	0.67900	0.954	T	0.59306	-0.7479	10	0.41790	T	0.15	-24.8247	20.1755	0.98177	0.0:1.0:0.0:0.0	.	225	O94933	SLIK3_HUMAN	I	225	ENSP00000420091:M225I;ENSP00000241274:M225I	ENSP00000241274:M225I	M	-	3	0	SLITRK3	166390638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.999000	0.70665	2.779000	0.95612	0.561000	0.74099	ATG	SLITRK3	-	NULL	ENSG00000121871		0.443	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	27	0	C	NM_014926		164907944	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	A	A	164907944	C	A	164907944	3	1	58	1	0	0	0	0	1	0	0	0	14789	594	21	3	2262	3	SLITRK3	3	164907944	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1446	164907944	33114486	537	14920											
BCHE	590	genome.wustl.edu	37	chr3	165547749	165547749	+	Frame_Shift_Del	DEL	A	A	-																															agccaggagcaccatagactAaaaaagctgtcccttcatct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:165547749delA	ENST00000264381.3	-	2	1239	c.1073delT	c.(1072-1074)ttafs	p.L358fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	358			L -> I (in BChE deficiency; BChE variant form; fluoride-resistant; Japanese type; dbSNP:rs121918557). {ECO:0000269|PubMed:10404729, ECO:0000269|PubMed:8680411, ECO:0000269|PubMed:9191541, ECO:0000269|PubMed:9388484}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ACCATAGACTAAAAAAGCTGT	0.348																																																	0													27	28	28					3																	165547749		2199	4291	6490	SO:0001589	frameshift_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1073delT	3.37:g.165547749delA	ENSP00000264381:p.Leu358fs		A8K7P8	Frame_Shift_Del	DEL	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.L358fs	ENST00000264381.3	37	c.1073	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000114200		0.348	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0	36	0	A			165547749	-1	tier1		no_errors	ENST00000264381	ensembl	human	known	74_37	frame_shift_del	39.34	37	24	DEL	0.998	-	-	165547749	A	-	165547749	7	5	58	1	0	1	0	1	0	0	0	0	1359	372	13	0	747	0	BCHE	3	165547749	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	639805	165547749	32474681	538	14921											
GOLIM4	27333	genome.wustl.edu	37	chr3	167747677	167747677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgctgccgtagtaagtGcccctgcagcctctgctggt	4	12	11	14	1	1	0	0	0	1	0	2	0	2	0	5	1	6	5	5	1	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:167747677G>T	ENST00000470487.1	-	10	2013	c.1324C>A	c.(1324-1326)Cac>Aac	p.H442N	GOLIM4_ENST00000309027.4_Missense_Mutation_p.H414N	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	442	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						cgtagtaagtgcccctgcagc	0.637																																																	0													50	47	48					3																	167747677		2203	4300	6503	SO:0001583	missense	0			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"golgi phosphoprotein 4"	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1324C>A	3.37:g.167747677G>T	ENSP00000417354:p.His442Asn			Missense_Mutation	SNP	NULL	p.H442N	ENST00000470487.1	37	c.1324	CCDS3204.1	3	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011574	0.19277	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.38	3.58	0.41010	.	0.232052	0.45361	D	0.000368	T	0.44932	0.1317	M	0.66939	2.045	0.09310	N	1	B;B	0.33266	0.404;0.404	B;B	0.32980	0.156;0.156	T	0.37820	-0.9689	9	0.36615	T	0.2	-7.7427	11.6785	0.51444	0.1466:0.0:0.8534:0.0	.	414;442	F8W785;O00461	.;GOLI4_HUMAN	N	442;414	.	ENSP00000309893:H414N	H	-	1	0	GOLIM4	169230371	0.993000	0.37304	0.012000	0.15200	0.124000	0.20399	6.117000	0.71577	1.295000	0.44724	0.555000	0.69702	CAC	GOLIM4	-	NULL	ENSG00000173905		0.637	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLIM4	HGNC	protein_coding	OTTHUMT00000351278.2		0	64	0	G			167747677	-1			no_errors	ENST00000470487	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.012	T	T	167747677	G	T	167747677	3	4	58	1	0	0	0	0	1	0	0	0	6592	1319	46	3	794	3	GOLIM4	3	167747677	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2199928	167747677	30274753	539	14922											
TNIK	23043	genome.wustl.edu	37	chr3	170893043	170893045	+	In_Frame_Del	DEL	CTT	CTT	-																															atcgaagaccaaactcaccaCttcttagacttcagccgagg																								rs35124501		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:170893043_170893045delCTT	ENST00000436636.2	-	9	1113_1115	c.769_771delAAG	c.(769-771)aagdel	p.K257del	TNIK_ENST00000460047.1_In_Frame_Del_p.K257del|TNIK_ENST00000357327.5_In_Frame_Del_p.K257del|TNIK_ENST00000488470.1_In_Frame_Del_p.K257del|TNIK_ENST00000538048.1_In_Frame_Del_p.K257del|TNIK_ENST00000341852.6_In_Frame_Del_p.K257del|TNIK_ENST00000475336.1_In_Frame_Del_p.K257del|TNIK_ENST00000284483.8_In_Frame_Del_p.K257del|TNIK_ENST00000369326.5_In_Frame_Del_p.K257del|TNIK_ENST00000470834.1_In_Frame_Del_p.K257del	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAACTCACCACTTCTTAGACTTC	0.498																																																	0																																										SO:0001651	inframe_deletion	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.769_771delAAG	3.37:g.170893046_170893048delCTT	ENSP00000399511:p.Lys257del		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.K257in_frame_del	ENST00000436636.2	37	c.771_769	CCDS46956.1	3																																																																																			TNIK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154310		0.498	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2		0	18	0	CTT	XM_039796		170893045	-1	tier1		no_errors	ENST00000436636	ensembl	human	known	74_37	in_frame_del	41.18	10	7	DEL	1.000:1.000:1.000	-	-	170893045	CTT	-	170893043	7	5	58	1	0	1	0	1	0	0	0	0	16360	564	20	0	3411	0	TNIK	3	170893043	In_Frame_Del	DEL	CTT	TCGA-L5-A4OI-01A-11D-A27G-09	3145366	170893043	27129387	540	14923											
NCEH1	57552	genome.wustl.edu	37	chr3	172365826	172365826	+	Frame_Shift_Del	DEL	T	T	-																															ttgggcagaagaccacgcgcTttttttgccaaaagaaacaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:172365826delT	ENST00000475381.1	-	2	450	c.217delA	c.(217-219)agcfs	p.S73fs	NCEH1_ENST00000538775.1_Frame_Shift_Del_p.S105fs|NCEH1_ENST00000273512.3_Frame_Shift_Del_p.S105fs|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	73					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GACCACGCGCTTTTTTTGCCA	0.507																																																	0													78	76	77					3																	172365826		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.217delA	3.37:g.172365826delT	ENSP00000418571:p.Ser73fs		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Frame_Shift_Del	DEL	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S105fs	ENST00000475381.1	37	c.313		3																																																																																			NCEH1	-	pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.507	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3		0	27	0	T	NM_020792		172365826	-1	tier1		no_errors	ENST00000538775	ensembl	human	known	74_37	frame_shift_del	40.00	9	6	DEL	0.989	-	-	172365826	T	-	172365826	7	5	58	1	0	1	0	1	0	0	0	0	10254	1609	56	0	1049	0	NCEH1	3	172365826	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	1472783	172365826	25656604	541	14924											
HTR3D	200909	genome.wustl.edu	37	chr3	183749570	183749570	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggaaaggattcctccttgGcttcatcctccacctgctgc	6	12	9	14	0	1	0	1	0	0	0	5	2	5	2	5	3	2	2	5	3	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:183749570G>T	ENST00000382489.3	+	0	0				HTR3D_ENST00000428798.2_Missense_Mutation_p.G14V|HTR3D_ENST00000334128.2_Intron	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TTCCTCCTTGGCTTCATCCTC	0.443																																																	0													135	155	149					3																	183749570		692	1591	2283	SO:0001631	upstream_gene_variant	0			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24004	protein-coding gene	gene with protein product		610122	"5-hydroxytryptamine (serotonin) receptor 3 family member D"			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858		3.37:g.183749570G>T	Exception_encountered		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.G14V	ENST00000382489.3	37	c.41	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061429	0.07317	.	.	ENSG00000186090	ENST00000428798	T	0.75367	-0.93	4.26	1.23	0.21249	.	.	.	.	.	T	0.71108	0.3301	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.62158	-0.6913	6	0.66056	D	0.02	.	7.2147	0.25953	0.0:0.3568:0.4598:0.1835	.	.	.	.	V	14	ENSP00000405409:G14V	ENSP00000405409:G14V	G	+	2	0	HTR3D	185232264	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.221000	0.17680	0.039000	0.15632	-0.235000	0.12190	GGC	HTR3D	-	NULL	ENSG00000186090		0.443	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	-	0	38	0	G	NM_182537		183749570	1	tier1	-	no_errors	ENST00000428798	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T	T	183749570	G	T	183749570	1	4	58	0	1	0	0	0	0	0	0	0	7474	1203	42	3		3	HTR3D	3	183749570	5'Flank	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	11383744	183749570	14272860	542	14925											
ECE2	9718	genome.wustl.edu	37	chr3	184001715	184001715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccccaggaccagcggcGcgacgaggagaagatctacc	11	3	14	13	4	1	2	0	0	1	2	1	6	1	3	4	3	3	0	4	3	2	1	rs536698371		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184001715G>A	ENST00000402825.3	+	8	1313	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	ECE2_ENST00000404464.3_Missense_Mutation_p.R320H|ECE2_ENST00000359140.4_Missense_Mutation_p.R291H|ECE2_ENST00000357474.5_Missense_Mutation_p.R366H|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	438	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCAGCGGCGCGACGAGGAG	0.637																																																	0													78	67	71					3																	184001715		2203	4300	6503	SO:0001583	missense	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1313G>A	3.37:g.184001715G>A	ENSP00000384223:p.Arg438His		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.R438H	ENST00000402825.3	37	c.1313	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691634	0.68271	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	4.3	4.3	0.51218	Peptidase M13 (1);	0.057926	0.64402	D	0.000003	D	0.85656	0.5747	M	0.62266	1.93	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D	0.91635	0.999;0.999;0.944;0.781;0.999;0.999;0.999	D	0.85746	0.1340	10	0.44086	T	0.13	-11.6052	15.4844	0.75555	0.0:0.0:1.0:0.0	.	40;291;309;320;366;291;438	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	H	438;291;320;366;312	ENSP00000384223:R438H;ENSP00000352052:R291H;ENSP00000385846:R320H;ENSP00000350066:R366H;ENSP00000398444:R312H	ENSP00000350066:R366H	R	+	2	0	ECE2	185484409	1.000000	0.71417	0.936000	0.37596	0.970000	0.65996	9.097000	0.94193	2.222000	0.72286	0.650000	0.86243	CGC	ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.637	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0	40	0	G	NM_014693		184001715	1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.999	A	A	184001715	G	A	184001715	3	1	58	1	0	0	0	0	1	0	0	0	4904	1087	38	1	1907	1	ECE2	3	184001715	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	252145	184001715	14020715	543	14926											
EIF4G1	1981	genome.wustl.edu	37	chr3	184045617	184045617	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgccctgcacccctcaGgaggcagtccagtgcgtgca	6	7	13	15	1	1	0	1	0	0	0	2	1	2	1	4	2	4	4	4	2	0	0	rs112194994		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184045617G>T	ENST00000346169.2	+	26	4051		c.e26-1		EIF4G1_ENST00000414031.1_Splice_Site|EIF4G1_ENST00000392537.2_Splice_Site|EIF4G1_ENST00000434061.2_Splice_Site|EIF4G1_ENST00000427845.1_Splice_Site|EIF4G1_ENST00000350481.5_Splice_Site|EIF4G1_ENST00000424196.1_Splice_Site|EIF4G1_ENST00000435046.2_Splice_Site|EIF4G1_ENST00000319274.6_Splice_Site|EIF4G1_ENST00000441154.1_Splice_Site|EIF4G1_ENST00000411531.1_Splice_Site|EIF4G1_ENST00000342981.4_Splice_Site|EIF4G1_ENST00000352767.3_Splice_Site|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Splice_Site|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCACCCCTCAGGAGGCAGTCC	0.617																																																	1	Unknown(1)	skin(1)											69	61	64					3																	184045617		2203	4300	6503	SO:0001630	splice_region_variant	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3781-1G>T	3.37:g.184045617G>T			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Splice_Site	SNP	-	e25-1	ENST00000346169.2	37	c.3802-1	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877220	0.72294	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF4G1	185528311	1.000000	0.71417	0.999000	0.59377	0.681000	0.39784	7.649000	0.83500	2.941000	0.99782	0.655000	0.94253	.	EIF4G1	-	-	ENSG00000114867		0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0	22	0	G	NM_182917	Intron	184045617	1			no_errors	ENST00000352767	ensembl	human	known	74_37	splice_site	8.70	21	2	SNP	1.000	T	T	184045617	G	T	184045617	5	4	58	1	0	0	0	0	0	0	1	0	5052	1014	35	3	3874	3	EIF4G1	3	184045617	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	43902	184045617	13976813	544	14927											
FAM131A	131408	genome.wustl.edu	37	chr3	184062461	184062461	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggttgttgggctccccGgcccggctggcctcccagct	2	9	15	15	2	0	0	0	0	0	0	2	1	2	0	5	5	1	5	5	5	0	2	rs377495075		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184062461G>A	ENST00000310585.4	+	3	2075	c.711G>A	c.(709-711)ccG>ccA	p.P237P	FAM131A_ENST00000340957.5_Silent_p.P183P|FAM131A_ENST00000450976.1_Silent_p.P183P|FAM131A_ENST00000383847.2_Silent_p.P268P|FAM131A_ENST00000418281.1_Silent_p.P145P|FAM131A_ENST00000453072.1_Silent_p.P183P|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	237						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGGCTCCCCGGCCCGGCTGG	0.682													G|||	1	0.000199681	0	0.0014	5008	,	,		16361	0		0	False		,,,				2504	0																0								G	,	0,4406		0,0,2203	62	70	67		549,804	-10.8	0	3		67	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	FAM131A	NM_001171093.1,NM_144635.4	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	183/282,268/367	184062461	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 40"	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.711G>A	3.37:g.184062461G>A			D3DNT6|G5E9B1|Q8TA84	Silent	SNP	NULL	p.P268	ENST00000310585.4	37	c.804		3																																																																																			FAM131A	-	NULL	ENSG00000175182		0.682	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	-	0	113	0	G	NM_144635		184062461	1	tier1	-	no_errors	ENST00000383847	ensembl	human	known	74_37	silent	34.00	66	34	SNP	0.001	A	A	184062461	G	A	184062461	2	1	58	1	0	0	0	0	0	0	0	1	5458	1103	39	1		1	FAM131A	3	184062461	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	16844	184062461	13959969	545	14928											
CHRD	8646	genome.wustl.edu	37	chr3	184104414	184104414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtctcccggccctagcGcccgccaaacctggtggtcc	4	7	11	19	3	1	0	0	0	1	0	3	0	2	0	7	4	2	0	7	4	2	1	rs376517219		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184104414G>A	ENST00000204604.1	+	16	2313	c.2067G>A	c.(2065-2067)gcG>gcA	p.A689A	CHRD_ENST00000348986.3_Silent_p.A649A|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000450923.1_Silent_p.A689A|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	689					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGCCCTAGCGCCCGCCAAAC	0.751																																																	0													9	11	10					3																	184104414		2092	4166	6258	SO:0001819	synonymous_variant	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2067G>A	3.37:g.184104414G>A			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.A689	ENST00000204604.1	37	c.2067	CCDS3266.1	3																																																																																			CHRD	-	pirsf_Chordin	ENSG00000090539		0.751	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0	8	0	G	NM_003741		184104414	1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	silent	62.50	3	5	SNP	0.000	A	A	184104414	G	A	184104414	2	1	58	1	0	0	0	0	0	0	0	1	3379	1074	38	1		1	CHRD	3	184104414	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	41953	184104414	13918016	546	14929											
TNK2	10188	genome.wustl.edu	37	chr3	195594633	195594633	+	Frame_Shift_Del	DEL	G	G	-																															gccaggggcctggatcacctGgggggtggcgtacttggggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:195594633delG	ENST00000333602.6	-	12	3108	c.2491delC	c.(2491-2493)cagfs	p.Q831fs	TNK2_ENST00000381916.2_Frame_Shift_Del_p.Q909fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.Q863fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.Q831fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	831	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGATCACCTGGGGGGTGGCG	0.662																																																	0													16	19	18					3																	195594633		2187	4273	6460	SO:0001589	frameshift_variant	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2491delC	3.37:g.195594633delG	ENSP00000329425:p.Gln831fs		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.Q909fs	ENST00000333602.6	37	c.2725	CCDS33928.1	3																																																																																			TNK2	-	pfam_Inhibitor_Mig-6	ENSG00000061938		0.662	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3		0	53	0	G	NM_005781		195594633	-1	tier1		no_errors	ENST00000381916	ensembl	human	known	74_37	frame_shift_del	55.10	22	27	DEL	1.000	-	-	195594633	G	-	195594633	7	5	58	1	0	1	0	1	0	0	0	0	16365	1357	47	0	641	0	TNK2	3	195594633	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	11490219	195594633	2427797	547	14930											
ZDHHC19	131540	genome.wustl.edu	37	chr3	195934356	195934356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccaggaggcccgcggcGgacacggccaccacgatgct	8	2	15	16	5	0	0	0	0	0	0	0	3	0	2	4	6	1	2	4	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:195934356G>A	ENST00000296326.3	-	5	679	c.600C>T	c.(598-600)tcC>tcT	p.S200S	ZDHHC19_ENST00000488508.1_5'Flank	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	200						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGCCCGCGGCGGACACGGCCA	0.756																																																	0													10	15	14					3																	195934356		2090	4157	6247	SO:0001819	synonymous_variant	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"Zinc fingers, DHHC-type"	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.600C>T	3.37:g.195934356G>A			A8MSY6|B3KVI1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S200	ENST00000296326.3	37	c.600	CCDS43190.1	3																																																																																			ZDHHC19	-	NULL	ENSG00000163958		0.756	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	-	0	24	0	G	NM_144637		195934356	-1	tier1	-	no_errors	ENST00000296326	ensembl	human	known	74_37	silent	58.33	10	14	SNP	0.316	A	A	195934356	G	A	195934356	2	1	58	1	0	0	0	0	0	0	0	1	17657	1103	39	1		1	ZDHHC19	3	195934356	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	339723	195934356	2088074	548	14931											
UBXN7	26043	genome.wustl.edu	37	chr3	196089199	196089199	+	Frame_Shift_Del	DEL	T	T	-																															ccctccactactccatctgcTttttcaggtggcatctccag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:196089199delT	ENST00000296328.4	-	9	1268	c.1194delA	c.(1192-1194)aaafs	p.K398fs	UBXN7_ENST00000535858.1_Frame_Shift_Del_p.K250fs|UBXN7_ENST00000428095.1_Frame_Shift_Del_p.K236fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	398						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCCATCTGCTTTTTCAGGTG	0.478																																																	0													147	135	139					3																	196089199		1930	4128	6058	SO:0001589	frameshift_variant	0			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"UBX domain containing"	29119	protein-coding gene	gene with protein product			"UBX domain containing 7"	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1194delA	3.37:g.196089199delT	ENSP00000296328:p.Lys398fs		D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Del	DEL	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX	p.A399fs	ENST00000296328.4	37	c.1194	CCDS43191.1	3																																																																																			UBXN7	-	pirsf_UCP037991_UAS/UBX	ENSG00000163960		0.478	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7	HGNC	protein_coding	OTTHUMT00000340938.2		0	77	0	T	XM_087353		196089199	-1	tier1		no_errors	ENST00000296328	ensembl	human	known	74_37	frame_shift_del	37.29	37	22	DEL	0.815	-	-	196089199	T	-	196089199	7	5	58	1	0	1	0	1	0	0	0	0	16967	1606	56	0	287	0	UBXN7	3	196089199	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	154843	196089199	1933231	549	14932											
RNF168	165918	genome.wustl.edu	37	chr3	196214437	196214437	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcctcgctggcccgtcGctctgccgccaccttaaaag	5	11	8	17	4	2	0	0	0	2	0	5	0	3	0	5	1	1	2	5	1	2	3	rs201915239		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:196214437G>A	ENST00000318037.3	-	3	985	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	131	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGCCCGTCGCTCTGCCGCC	0.398																																																	0								G	stop/ARG	0,4404		0,0,2202	116	108	111		391	2.7	1	3		111	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	RNF168	NM_152617.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		131/572	196214437	1,13001	2202	4299	6501	SO:0001587	stop_gained	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.391C>T	3.37:g.196214437G>A	ENSP00000320898:p.Arg131*		Q8NA67|Q96NS4	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R131*	ENST00000318037.3	37	c.391	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.202635	0.99099	0.0	1.16E-4	ENSG00000163961	ENST00000318037	.	.	.	5.41	2.65	0.31530	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2389	4.4813	0.11767	0.1398:0.1235:0.6091:0.1275	.	.	.	.	X	131	.	ENSP00000320898:R131X	R	-	1	2	RNF168	197698834	1.000000	0.71417	0.991000	0.47740	0.795000	0.44927	2.102000	0.41796	0.409000	0.25649	0.655000	0.94253	CGA	RNF168	-	NULL	ENSG00000163961		0.398	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	-	0	61	0	G	NM_152617		196214437	-1	tier1	rs201915239	no_errors	ENST00000318037	ensembl	human	known	74_37	nonsense	39.13	42	27	SNP	0.974	A	A	196214437	G	A	196214437	4	1	58	1	0	0	0	0	0	1	0	0	13504	1095	38	1	1340	1	RNF168	3	196214437	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	125238	196214437	1807993	550	14933											
SENP5	205564	genome.wustl.edu	37	chr3	196613470	196613470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggaggctcccttggtgtGcagtggactcaaactagaaa	11	9	12	9	0	1	1	1	0	0	1	2	3	2	3	1	4	2	2	1	4	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:196613470G>T	ENST00000323460.5	+	2	1667	c.1418G>T	c.(1417-1419)tGc>tTc	p.C473F	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.C473F	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	473					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCCTTGGTGTGCAGTGGACTC	0.478																																					Ovarian(47;891 1095 11174 13858 51271)												0													74	74	74					3																	196613470		2203	4300	6503	SO:0001583	missense	0			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"SUMO1/sentrin specific protease 5"			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1418G>T	3.37:g.196613470G>T	ENSP00000327197:p.Cys473Phe		B4DY82|Q96SA5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.C473F	ENST00000323460.5	37	c.1418	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554126	0.27739	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.23147	2.26;1.92	5.4	3.51	0.40186	.	0.573269	0.18286	N	0.145892	T	0.16471	0.0396	N	0.24115	0.695	0.43313	D	0.995324	D;D	0.57899	0.968;0.981	B;B	0.42062	0.374;0.374	T	0.02654	-1.1128	10	0.33940	T	0.23	-0.0667	9.9845	0.41832	0.0809:0.1394:0.7797:0.0	.	473;473	B4DY82;Q96HI0	.;SENP5_HUMAN	F	473	ENSP00000327197:C473F;ENSP00000390231:C473F	ENSP00000327197:C473F	C	+	2	0	SENP5	198097867	0.994000	0.37717	0.948000	0.38648	0.889000	0.51656	1.628000	0.37060	1.411000	0.46957	0.655000	0.94253	TGC	SENP5	-	NULL	ENSG00000119231		0.478	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	HGNC	protein_coding	OTTHUMT00000340524.1	-	0	42	0	G	NM_152699		196613470	1	tier1	-	no_errors	ENST00000323460	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.637	T	T	196613470	G	T	196613470	3	4	58	1	0	0	0	0	1	0	0	0	14094	1319	46	3	1420	3	SENP5	3	196613470	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	399033	196613470	1408960	551	14934											
KIAA0226	9711	genome.wustl.edu	37	chr3	197428645	197428645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtaggaatgctgagcatAgctgtttggaggggtgtatg	11	11	16	3	0	0	1	0	1	0	0	0	3	0	3	0	4	3	6	0	4	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:197428645A>G	ENST00000296343.5	-	6	660	c.661T>C	c.(661-663)Tat>Cat	p.Y221H	KIAA0226_ENST00000449205.1_Missense_Mutation_p.Y221H|KIAA0226_ENST00000389665.5_Missense_Mutation_p.Y221H|KIAA0226_ENST00000273582.5_Missense_Mutation_p.Y161H|KIAA0226_ENST00000467303.1_5'UTR	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	221	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTGAGCATAGCTGTTTGGA	0.517																																					Esophageal Squamous(3;167 355 3763 15924)												0													110	115	114					3																	197428645		1939	4144	6083	SO:0001583	missense	0			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.661T>C	3.37:g.197428645A>G	ENSP00000296343:p.Tyr221His		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.Y221H	ENST00000296343.5	37	c.661	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.623|8.623	0.891963|0.891963	0.17613|0.17613	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|.	.|.	.|.	5.87|5.87	-1.05|-1.05	0.10036|0.10036	.|.	.|1.464360	.|0.03610	.|N	.|0.234711	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.09022	.|0.002;0.001;0.002;0.001	.|B;B;B;B	.|0.06405	.|0.002;0.002;0.002;0.0	T|T	0.10965|0.10965	-1.0607|-1.0607	5|9	.|0.15499	.|T	.|0.54	.|.	3.7912|3.7912	0.08721|0.08721	0.4689:0.0:0.19:0.3411|0.4689:0.0:0.19:0.3411	.|.	.|221;54;161;221	.|E9PEM3;Q5HYI6;Q92622-2;Q92622	.|.;.;.;RUBIC_HUMAN	P|H	199|161;221;221;221	.|.	.|ENSP00000273582:Y161H	L|Y	-|-	2|1	0|0	KIAA0226|KIAA0226	198913042|198913042	0.002000|0.002000	0.14202|0.14202	0.036000|0.036000	0.18154|0.18154	0.997000|0.997000	0.91878|0.91878	1.006000|1.006000	0.29847|0.29847	-0.395000|-0.395000	0.07715|0.07715	0.533000|0.533000	0.62120|0.62120	CTA|TAT	KIAA0226	-	NULL	ENSG00000145016		0.517	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	-	0	120	0	A	XM_032901		197428645	-1	tier1	-	no_errors	ENST00000296343	ensembl	human	known	74_37	missense	30.23	90	39	SNP	0.000	G	G	197428645	A	G	197428645	3	3	58	1	0	0	0	0	1	0	0	0	8189	420	15	4	2366	4	KIAA0226	3	197428645	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	815175	197428645	593785	552	14935											
LMLN	89782	genome.wustl.edu	37	chr3	197748396	197748396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattgctgactactgccCtttcagtcaggaattcagtt	10	13	9	9	0	3	1	3	1	0	0	3	3	3	3	1	2	3	2	1	2	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:197748396C>A	ENST00000330198.4	+	13	1467	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	LMLN_ENST00000420910.2_Missense_Mutation_p.P519H|LMLN_ENST00000482695.1_Missense_Mutation_p.P467H|LMLN_ENST00000332636.5_Missense_Mutation_p.P430H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	482					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GACTACTGCCCTTTCAGTCAG	0.413																																																	0													158	156	157					3																	197748396		2203	4300	6503	SO:0001583	missense	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1445C>A	3.37:g.197748396C>A	ENSP00000328829:p.Pro482His		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.P482H	ENST00000330198.4	37	c.1445	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015207	0.75161	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.46	5.46	0.80206	.	0.111229	0.64402	D	0.000006	D	0.85869	0.5797	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87908	0.2695	10	0.87932	D	0	-6.2077	16.8656	0.86028	0.0:1.0:0.0:0.0	.	482;430;519;511;467	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	467;482;519;430	ENSP00000418324:P467H;ENSP00000328829:P482H;ENSP00000410926:P519H;ENSP00000328611:P430H	ENSP00000328829:P482H	P	+	2	0	LMLN	199232793	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	7.372000	0.79612	2.575000	0.86900	0.650000	0.86243	CCT	LMLN	-	pfam_Peptidase_M8	ENSG00000185621		0.413	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	-	0	27	0	C	NM_033029		197748396	1	tier1	-	no_errors	ENST00000330198	ensembl	human	known	74_37	missense	52.83	25	28	SNP	1.000	A	A	197748396	C	A	197748396	3	1	58	1	0	0	0	0	1	0	0	0	8877	681	24	3	1610	3	LMLN	3	197748396	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	319751	197748396	274034	553	14936											
GAK	2580	genome.wustl.edu	37	chr4	870338	870338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaatttcacagtggtGgcgttccgaggcacaaaccc	10	9	11	11	2	1	0	1	0	0	0	2	1	2	0	2	4	1	3	2	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:870338G>T	ENST00000314167.4	-	18	2144	c.2034C>A	c.(2032-2034)gcC>gcA	p.A678A	GAK_ENST00000511163.1_Silent_p.A599A	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	678	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCACAGTGGTGGCGTTCCGAG	0.582																																																	0													163	134	144					4																	870338		2203	4300	6503	SO:0001819	synonymous_variant	0			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2034C>A	4.37:g.870338G>T			Q5U4P5|Q9BVY6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.A678	ENST00000314167.4	37	c.2034	CCDS3340.1	4																																																																																			GAK	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000178950		0.582	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	-	0	59	0	G	NM_005255		870338	-1	tier1	-	no_errors	ENST00000314167	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.060	T	T	870338	G	T	870338	2	4	58	1	0	0	0	0	0	0	0	1	6220	1335	47	3		3	GAK	4	870338	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		870338	190283938	554	14937											
GAK	2580	genome.wustl.edu	37	chr4	884355	884355	+	Frame_Shift_Del	DEL	G	G	-																															tgccagcggggcccacgggaGggggtggccctcgggacagt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:884355delG	ENST00000314167.4	-	10	1156	c.1046delC	c.(1045-1047)cctfs	p.P350fs	GAK_ENST00000511163.1_Frame_Shift_Del_p.P271fs	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	350	Poly-Pro.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCCACGGGAGGGGGTGGCCC	0.647																																																	0													31	34	33					4																	884355		2195	4297	6492	SO:0001589	frameshift_variant	0			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"Heat shock proteins / DNAJ (HSP40)"	4113	protein-coding gene	gene with protein product	"auxilin-2"	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1046delC	4.37:g.884355delG	ENSP00000314499:p.Pro350fs		Q5U4P5|Q9BVY6	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.P349fs	ENST00000314167.4	37	c.1046	CCDS3340.1	4																																																																																			GAK	-	NULL	ENSG00000178950		0.647	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1		0	79	0	G	NM_005255		884355	-1	tier1		no_errors	ENST00000314167	ensembl	human	known	74_37	frame_shift_del	40.91	39	27	DEL	0.018	-	-	884355	G	-	884355	7	5	58	1	0	1	0	1	0	0	0	0	6220	1000	35	0	2965	0	GAK	4	884355	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	14017	884355	190269921	555	14938											
SLC26A1	10861	genome.wustl.edu	37	chr4	985254	985254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcaccaggatgatgcCgatgaccagcccagacatga	11	5	12	13	2	0	4	0	3	0	1	0	6	0	5	4	2	3	1	4	2	0	0	rs374288131		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:985254C>T	ENST00000361661.2	-	3	615	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G80S|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G80S	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	80					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGATGATGCCGATGACCAGC	0.652																																																	0								C	,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	76	69	71		,238,238,238	5.1	1	4		71	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,probably-damaging,probably-damaging	,80/702,80/225,80/702	985254	1,13005	2203	4300	6503	SO:0001583	missense	0			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.238G>A	4.37:g.985254C>T	ENSP00000354721:p.Gly80Ser		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.G80S	ENST00000361661.2	37	c.238	CCDS33934.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369918	0.82573	0.0	1.16E-4	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.91945	-2.94;-2.94;-2.94	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.902	D	0.95650	0.8706	10	0.87932	D	0	.	16.0755	0.80965	0.0:1.0:0.0:0.0	.	80;80	Q9H2B4;Q96BK0	S26A1_HUMAN;.	S	80	ENSP00000381532:G80S;ENSP00000354721:G80S;ENSP00000381528:G80S	ENSP00000354721:G80S	G	-	1	0	SLC26A1	975254	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	5.955000	0.70306	2.380000	0.81148	0.313000	0.20887	GGC	SLC26A1	-	tigrfam_SulP_transpt	ENSG00000145217		0.652	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	-	0	59	0	C	NM_022042, NM_134425		985254	-1	tier1	-	no_errors	ENST00000361661	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	T	T	985254	C	T	985254	3	4	58	1	0	0	0	0	1	0	0	0	14559	652	23	1	1978	1	SLC26A1	4	985254	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	100899	985254	190169022	556	14939											
FGFRL1	53834	genome.wustl.edu	37	chr4	1018800	1018800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttcatcctgggcaccCtgctcctgtggctttgccag	3	13	10	15	0	2	0	1	0	1	0	4	0	4	0	4	2	2	3	4	2	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:1018800C>A	ENST00000398484.2	+	8	1760	c.1180C>A	c.(1180-1182)Ctg>Atg	p.L394M	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Missense_Mutation_p.L394M|FGFRL1_ENST00000504138.1_Missense_Mutation_p.L394M|FGFRL1_ENST00000510644.1_Missense_Mutation_p.L394M			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	394					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTGGGCACCCTGCTCCTGTG	0.741																																																	0													22	25	24					4																	1018800		2199	4294	6493	SO:0001583	missense	0				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1180C>A	4.37:g.1018800C>A	ENSP00000381498:p.Leu394Met		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L394M	ENST00000398484.2	37	c.1180	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	c	12.96	2.093575	0.36952	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.74	3.02	0.34903	.	0.350509	0.29587	N	0.011734	T	0.41119	0.1145	N	0.08118	0	0.09310	N	0.999997	B	0.16396	0.017	B	0.12156	0.007	T	0.20672	-1.0268	10	0.09084	T	0.74	-9.1045	4.1898	0.10416	0.2745:0.1788:0.5467:0.0	.	394	Q8N441	FGRL1_HUMAN	M	394;364;394;394;394	ENSP00000381498:L394M;ENSP00000425025:L394M;ENSP00000423091:L394M;ENSP00000264748:L394M	ENSP00000264748:L394M	L	+	1	2	FGFRL1	1008800	0.939000	0.31865	0.884000	0.34674	0.731000	0.41821	2.773000	0.47686	0.445000	0.26639	-0.134000	0.14843	CTG	FGFRL1	-	NULL	ENSG00000127418		0.741	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	-	0	51	0	C	NM_021923		1018800	1	tier1	-	no_errors	ENST00000264748	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.699	A	A	1018800	C	A	1018800	3	1	58	1	0	0	0	0	1	0	0	0	5891	680	24	3	1202	3	FGFRL1	4	1018800	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	33546	1018800	190135476	557	14940											
ZFYVE28	57732	genome.wustl.edu	37	chr4	2343248	2343248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggttgtcgtgccggAtctcctcagggaacttgacg	6	9	14	12	4	2	1	1	1	1	0	4	3	2	3	3	4	2	1	3	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2343248A>G	ENST00000290974.2	-	3	614	c.275T>C	c.(274-276)aTc>aCc	p.I92T	ZFYVE28_ENST00000505421.1_5'Flank|ZFYVE28_ENST00000509171.1_Missense_Mutation_p.I45T|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.I92T|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.I92T|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.I22T|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.I22T	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	92					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTCGTGCCGGATCTCCTCAGG	0.597																																																	0													48	48	48					4																	2343248		2203	4300	6503	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.275T>C	4.37:g.2343248A>G	ENSP00000290974:p.Ile92Thr		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.I92T	ENST00000290974.2	37	c.275	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472507	0.84640	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312;ENST00000515169;ENST00000509171;ENST00000503000;ENST00000508184	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.999	D;D;D	0.85130	0.997;0.964;0.978	T	0.60311	-0.7288	10	0.87932	D	0	.	13.1296	0.59373	1.0:0.0:0.0:0.0	.	92;45;92	Q9HCC9-2;E9PB54;Q9HCC9	.;.;LST2_HUMAN	T	92;92;22;22;45;92;22	ENSP00000290974:I92T;ENSP00000425706:I92T;ENSP00000426299:I22T;ENSP00000425766:I22T;ENSP00000422638:I45T;ENSP00000423694:I92T;ENSP00000427471:I22T	ENSP00000290974:I92T	I	-	2	0	ZFYVE28	2313046	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.224000	0.89781	1.693000	0.51124	0.482000	0.46254	ATC	ZFYVE28	-	NULL	ENSG00000159733		0.597	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1		0	61	0	A	XM_035371		2343248	-1			no_errors	ENST00000290974	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	G	G	2343248	A	G	2343248	3	3	58	1	0	0	0	0	1	0	0	0	17718	333	12	4	2652	4	ZFYVE28	4	2343248	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1324448	2343248	188811028	558	14941											
NOP14	8602	genome.wustl.edu	37	chr4	2950090	2950090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaagctgctcttccatcGatcttcctaacaacagagat	13	10	5	13	1	2	1	0	0	2	1	5	3	4	1	3	0	4	2	3	0	4	3	rs148438590	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2950090G>A	ENST00000314262.6	-	9	1376	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.S443L|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.S443L|NOP14_ENST00000502735.1_Missense_Mutation_p.S443L	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	443					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCTTCCATCGATCTTCCTAA	0.388													G|||	2	0.000399361	0	0	5008	,	,		18269	0		0	False		,,,				2504	0.002																0								G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	138	120	126		1328	5.2	0	4	dbSNP_134	126	0,8600		0,0,4300	no	missense	NOP14	NM_003703.1	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	443/858	2950090	1,13005	2203	4300	6503	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1328C>T	4.37:g.2950090G>A	ENSP00000315674:p.Ser443Leu		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.S443L	ENST00000314262.6	37	c.1328	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763898	0.89932	2.27E-4	0.0	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.17	5.17	0.71159	.	0.379445	0.26058	N	0.026586	T	0.41834	0.1176	M	0.81112	2.525	0.25506	N	0.987507	P;P;P	0.50443	0.935;0.835;0.835	B;B;B	0.41917	0.37;0.278;0.278	T	0.51957	-0.8639	10	0.87932	D	0	-1.9589	18.2669	0.90055	0.0:0.0:1.0:0.0	.	236;443;443	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	L	443;443;443;443;342	ENSP00000405068:S443L;ENSP00000315674:S443L;ENSP00000427415:S443L;ENSP00000381146:S443L	ENSP00000315674:S443L	S	-	2	0	NOP14	2919888	0.991000	0.36638	0.005000	0.12908	0.294000	0.27393	7.149000	0.77396	2.410000	0.81850	0.563000	0.77884	TCG	NOP14	-	pfam_Nop14	ENSG00000087269		0.388	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0	71	0	G	NM_003703		2950090	-1	tier1	rs148438590	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	42.62	35	26	SNP	0.260	A	A	2950090	G	A	2950090	3	1	58	1	0	0	0	0	1	0	0	0	10575	1059	37	1	1285	1	NOP14	4	2950090	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	606842	2950090	188204186	559	14942											
HTT	3064	genome.wustl.edu	37	chr4	3127292	3127294	+	In_Frame_Del	DEL	AGA	AGA	-																															ctaggcaaagtgctcttaggAgaagaagaagccttggagga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3127292_3127294delAGA	ENST00000355072.5	+	11	1483_1485	c.1338_1340delAGA	c.(1336-1341)ggagaa>gga	p.E449del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	449					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCTCTTAGGAGAAGAAGAAGCC	0.404																																																	0																																										SO:0001651	inframe_deletion	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1338_1340delAGA	4.37:g.3127298_3127300delAGA	ENSP00000347184:p.Glu449del		Q9UQB7	In_Frame_Del	DEL	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E449in_frame_del	ENST00000355072.5	37	c.1338_1340	CCDS43206.1	4																																																																																			HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.404	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0	75	0	AGA	NM_002111		3127294	1	tier1		no_errors	ENST00000355072	ensembl	human	known	74_37	in_frame_del	41.82	32	23	DEL	0.996:1.000:1.000	-	-	3127294	AGA	-	3127292	7	5	58	1	0	1	0	1	0	0	0	0	7484	291	11	0	1380	0	HTT	4	3127292	In_Frame_Del	DEL	AGA	TCGA-L5-A4OI-01A-11D-A27G-09	177202	3127292	188026984	560	14943											
HTT	3064	genome.wustl.edu	37	chr4	3158915	3158915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcctgaaagctacacacGctaactacaaggtatgggcc	13	8	9	11	1	0	1	0	1	0	0	1	1	1	1	2	2	4	3	2	2	6	4	rs376975573		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3158915G>A	ENST00000355072.5	+	28	3887	c.3742G>A	c.(3742-3744)Gct>Act	p.A1248T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1248					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTACACACGCTAACTACAA	0.383													G|||	1	0.000199681	8e-04	0	5008	,	,		18042	0		0	False		,,,				2504	0																0								G	THR/ALA	0,3778		0,0,1889	130	117	121		3742	5	0.6	4		121	1,8243		0,1,4121	no	missense	HTT	NM_002111.6	58	0,1,6010	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	1248/3143	3158915	1,12021	1889	4122	6011	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3742G>A	4.37:g.3158915G>A	ENSP00000347184:p.Ala1248Thr		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.A1248T	ENST00000355072.5	37	c.3742	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547401	0.65311	0.0	1.21E-4	ENSG00000197386	ENST00000355072	T	0.05447	3.44	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.00939	-1.1507	10	0.30078	T	0.28	.	18.374	0.90430	0.0:0.0:1.0:0.0	.	1248	P42858	HD_HUMAN	T	1248	ENSP00000347184:A1248T	ENSP00000347184:A1248T	A	+	1	0	HTT	3128713	1.000000	0.71417	0.565000	0.28409	0.393000	0.30537	6.064000	0.71169	2.355000	0.79922	0.462000	0.41574	GCT	HTT	-	NULL	ENSG00000197386		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	59	0	G	NM_002111		3158915	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	26.23	45	16	SNP	1.000	A	A	3158915	G	A	3158915	3	1	58	1	0	0	0	0	1	0	0	0	7484	1087	38	1	3852	1	HTT	4	3158915	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	31623	3158915	187995361	561	14944											
HGFAC	3083	genome.wustl.edu	37	chr4	3444594	3444594	+	Frame_Shift_Del	DEL	C	C	-																															cccaaagtggggggctcccgCccccgcccagggcagttccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3444594delC	ENST00000382774.3	+	2	368	c.253delC	c.(253-255)cccfs	p.P87fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.P87fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	87					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGGCTCCCGCCCCCGCCCAG	0.672																																																	0													42	50	48					4																	3444594		2200	4299	6499	SO:0001589	frameshift_variant	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.253delC	4.37:g.3444594delC	ENSP00000372224:p.Pro87fs		Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P86fs	ENST00000382774.3	37	c.253	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3		0	24	0	C			3444594	1			no_errors	ENST00000382774	ensembl	human	known	74_37	frame_shift_del	31.25	11	5	DEL	0.000	0	-	3444594	C	-	3444594	7	5	58	1	0	1	0	1	0	0	0	0	7113	739	26	0	259	0	HGFAC	4	3444594	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	285679	3444594	187709682	562	14945											
LYAR	55646	genome.wustl.edu	37	chr4	4285408	4285408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttctgcaaacagacacaTgcttttccacttgtattttc	10	16	5	10	0	1	1	0	0	1	1	3	1	2	1	1	0	3	4	1	0	2	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:4285408T>C	ENST00000343470.4	-	3	302	c.62A>G	c.(61-63)cAt>cGt	p.H21R	LYAR_ENST00000452476.1_Missense_Mutation_p.H21R	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	21				H -> R (in Ref. 3; CAG38579). {ECO:0000305}.		nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACAGACACATGCTTTTCCAC	0.363																																																	0													113	101	105					4																	4285408		2203	4300	6503	SO:0001583	missense	0			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"Zinc fingers, C2HC-type containing"	26021	protein-coding gene	gene with protein product			"Ly1 antibody reactive homolog (mouse)"			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.62A>G	4.37:g.4285408T>C	ENSP00000345917:p.His21Arg		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	pfam_Znf_C2H2_LYAR	p.H21R	ENST00000343470.4	37	c.62	CCDS3374.1	4	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571556	0.65765	.	.	ENSG00000145220	ENST00000343470;ENST00000452476;ENST00000513174	T;T	0.74526	-0.85;-0.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91595	0.5290	10	0.87932	D	0	-24.6683	14.3451	0.66654	0.0:0.0:0.0:1.0	.	21	Q9NX58	LYAR_HUMAN	R	21	ENSP00000345917:H21R;ENSP00000397367:H21R	ENSP00000345917:H21R	H	-	2	0	LYAR	4336309	1.000000	0.71417	0.909000	0.35828	0.442000	0.32017	7.272000	0.78516	2.036000	0.60181	0.482000	0.46254	CAT	LYAR	-	NULL	ENSG00000145220		0.363	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYAR	HGNC	protein_coding	OTTHUMT00000246800.2	-	0	65	0	T	NM_017816		4285408	-1	tier1	-	no_errors	ENST00000343470	ensembl	human	known	74_37	missense	31.43	48	22	SNP	0.997	C	C	4285408	T	C	4285408	3	2	58	1	0	0	0	0	1	0	0	0	9139	1464	51	4	1109	4	LYAR	4	4285408	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	840814	4285408	186868868	563	14946											
MSX1	4487	genome.wustl.edu	37	chr4	4864475	4864475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaaacacaagacgaacCgtaagccgcggacgcccttc	12	4	9	16	6	0	1	0	0	0	1	2	3	1	2	4	1	3	2	4	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:4864475C>T	ENST00000382723.4	+	2	751	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	173					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGACGAACCGTAAGCCGCG	0.622																																																	0													61	76	71					4																	4864475		2199	4296	6495	SO:0001583	missense	0			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.517C>T	4.37:g.4864475C>T	ENSP00000372170:p.Arg173Cys		A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R173C	ENST00000382723.4	37	c.517	CCDS3378.2	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020980	0.75275	.	.	ENSG00000163132	ENST00000382723	D	0.97352	-4.35	4.96	3.98	0.46160	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98701	1.0700	10	0.87932	D	0	-10.8058	12.4026	0.55422	0.2819:0.7181:0.0:0.0	.	167	P28360	MSX1_HUMAN	C	173	ENSP00000372170:R173C	ENSP00000372170:R173C	R	+	1	0	MSX1	4915376	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.048000	0.30379	2.456000	0.83038	0.462000	0.41574	CGT	MSX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000163132		0.622	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	-	0	44	0	C			4864475	1	tier1	-	no_errors	ENST00000382723	ensembl	human	known	74_37	missense	56.41	17	22	SNP	1.000	T	T	4864475	C	T	4864475	3	4	58	1	0	0	0	0	1	0	0	0	9933	652	23	1	523	1	MSX1	4	4864475	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	579067	4864475	186289801	564	14947											
EVC2	132884	genome.wustl.edu	37	chr4	5617231	5617231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcagaagctctcccttgCttttactcttggaccgtgac	6	15	7	13	1	4	2	1	1	3	1	5	3	4	3	2	1	3	2	2	1	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:5617231C>T	ENST00000344408.5	-	16	2800	c.2747G>A	c.(2746-2748)aGc>aAc	p.S916N	EVC2_ENST00000344938.1_Missense_Mutation_p.S916N|EVC2_ENST00000310917.2_Missense_Mutation_p.S836N	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	916					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCTCCCTTGCTTTTACTCTT	0.502																																																	0													226	205	213					4																	5617231		2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2747G>A	4.37:g.5617231C>T	ENSP00000342144:p.Ser916Asn		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.S916N	ENST00000344408.5	37	c.2747	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	6.790	0.514741	0.12944	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74526	-0.85;-0.84;-0.84	5.22	3.5	0.40072	.	0.842794	0.10705	N	0.643585	T	0.52613	0.1745	N	0.11560	0.145	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.34950	-0.9808	10	0.15066	T	0.55	-5.5736	8.081	0.30744	0.0:0.8128:0.0:0.1872	.	916	Q86UK5	LBN_HUMAN	N	916;836;916	ENSP00000339954:S916N;ENSP00000311683:S836N;ENSP00000342144:S916N	ENSP00000311683:S836N	S	-	2	0	EVC2	5668132	0.957000	0.32711	0.187000	0.23214	0.623000	0.37688	0.373000	0.20484	0.606000	0.29965	-0.362000	0.07510	AGC	EVC2	-	NULL	ENSG00000173040		0.502	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0	77	0	C	NM_147127		5617231	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	28.09	64	25	SNP	0.485	T	T	5617231	C	T	5617231	3	4	58	1	0	0	0	0	1	0	0	0	5302	797	28	3	1207	3	EVC2	4	5617231	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	752756	5617231	185537045	565	14948											
CRMP1	1400	genome.wustl.edu	37	chr4	5843033	5843033	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcccagggccggctgcatAcctttcttcctggccagagc	6	8	12	15	1	1	1	0	0	1	1	2	1	2	1	5	4	3	2	5	4	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:5843033A>G	ENST00000397890.2	-	8	1026		c.e8+1		CRMP1_ENST00000511535.1_Splice_Site|CRMP1_ENST00000512574.1_Splice_Site|CRMP1_ENST00000324989.7_Splice_Site	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1						axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCGGCTGCATACCTTTCTTCC	0.622																																																	0													130	135	134					4																	5843033		2203	4300	6503	SO:0001630	splice_region_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.811+1T>C	4.37:g.5843033A>G			A0EJG6|Q13024|Q4W5F1|Q96TC8	Splice_Site	SNP	-	e8+2	ENST00000397890.2	37	c.1153+2	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317310	0.23908	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	.	.	.	4.44	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4185	0.32685	0.9047:0.0:0.0953:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRMP1	5893934	1.000000	0.71417	0.960000	0.40013	0.093000	0.18481	4.697000	0.61782	0.770000	0.33336	0.260000	0.18958	.	CRMP1	-	-	ENSG00000072832		0.622	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1		0	10	0	A	NM_001313	Intron	5843033	-1			no_errors	ENST00000324989	ensembl	human	known	74_37	splice_site	30.00	7	3	SNP	1.000	G	G	5843033	A	G	5843033	5	3	58	1	0	0	0	0	0	0	1	0	3897	405	14	4	933	4	CRMP1	4	5843033	Splice_Site	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	225802	5843033	185311243	566	14949											
C4orf50	389197	genome.wustl.edu	37	chr4	5982016	5982016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccggtgatggagctgctggGcccgcagcctgggatcctcc	4	7	15	15	2	0	1	0	1	0	0	2	3	2	3	5	4	3	3	5	4	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:5982016G>A	ENST00000324058.5	-	2	142	c.53C>T	c.(52-54)gCc>gTc	p.A18V	C4orf50_ENST00000531445.1_Missense_Mutation_p.A492V			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	18										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GAGCTGCTGGGCCCGCAGCCT	0.612																																																	0													23	27	26					4																	5982016		2203	4300	6503	SO:0001583	missense	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.53C>T	4.37:g.5982016G>A	ENSP00000317287:p.Ala18Val			Missense_Mutation	SNP	NULL	p.A492V	ENST00000324058.5	37	c.1475		4	.	.	.	.	.	.	.	.	.	.	G	0.628	-0.818536	0.02776	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.16073	2.37;2.37	3.7	-0.363	0.12556	.	2.425220	0.02090	N	0.053083	T	0.04452	0.0122	N	0.01109	-1.01	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36986	-0.9725	10	0.02654	T	1	-0.8793	2.9547	0.05872	0.436:0.2426:0.3214:0.0	.	18	Q6ZRC1	CD050_HUMAN	V	492;18	ENSP00000437121:A492V;ENSP00000317287:A18V	ENSP00000317287:A18V	A	-	2	0	C4orf50	6032917	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.157000	0.16402	0.172000	0.19760	0.655000	0.94253	GCC	C4orf50	-	NULL	ENSG00000181215		0.612	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		-	0	55	0	G	NM_207405		5982016	-1	tier1	-	no_errors	ENST00000531445	ensembl	human	known	74_37	missense	35.71	36	20	SNP	0.000	A	A	5982016	G	A	5982016	3	1	58	1	0	0	0	0	1	0	0	0	2283	1203	42	3	801	3	C4orf50	4	5982016	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	138983	5982016	185172260	567	14950											
CCDC96	257236	genome.wustl.edu	37	chr4	7043578	7043578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttttatcctccaacGcctggatctgctccacctct	5	15	4	17	1	3	0	0	0	3	0	7	1	6	1	6	1	2	1	6	1	2	3	rs377449312		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:7043578G>A	ENST00000310085.4	-	1	1150	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	363										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						ATCCTCCAACGCCTGGATCTG	0.592																																																	0								G	VAL/ALA	1,4405		0,1,2202	71	83	79		1088	3.1	1	4		79	0,8600		0,0,4300	no	missense	CCDC96	NM_153376.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	363/556	7043578	1,13005	2203	4300	6503	SO:0001583	missense	0			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1088C>T	4.37:g.7043578G>A	ENSP00000309285:p.Ala363Val		Q8N2I7	Missense_Mutation	SNP	NULL	p.A363V	ENST00000310085.4	37	c.1088	CCDS3395.1	4	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018164	0.35606	2.27E-4	0.0	ENSG00000173013	ENST00000310085	T	0.49432	0.78	3.98	3.08	0.35506	.	0.217217	0.28677	N	0.014513	T	0.32406	0.0828	L	0.60455	1.87	0.32810	D	0.501319	P	0.44946	0.846	B	0.30251	0.113	T	0.49254	-0.8959	10	0.30854	T	0.27	-21.1308	7.4665	0.27324	0.0919:0.0:0.7412:0.1669	.	363	Q2M329	CCD96_HUMAN	V	363	ENSP00000309285:A363V	ENSP00000309285:A363V	A	-	2	0	CCDC96	7094479	0.886000	0.30341	0.977000	0.42913	0.602000	0.36980	1.203000	0.32284	2.068000	0.61886	0.462000	0.41574	GCG	CCDC96	-	NULL	ENSG00000173013		0.592	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC96	HGNC	protein_coding	OTTHUMT00000246838.1	-	0	23	0	G	NM_153376		7043578	-1	tier1	-	no_errors	ENST00000310085	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.842	A	A	7043578	G	A	7043578	3	1	58	1	0	0	0	0	1	0	0	0	2881	1087	38	1	583	1	CCDC96	4	7043578	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1061562	7043578	184110698	568	14951											
AFAP1	60312	genome.wustl.edu	37	chr4	7870447	7870447	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtccttcacatcaaaacCtgtaagaattaaccagaacc	16	9	5	11	0	2	2	2	0	0	2	3	2	3	2	4	1	3	1	4	1	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:7870447C>A	ENST00000360265.4	-	2	362		c.e2-1		AFAP1_ENST00000382543.3_Splice_Site|AFAP1_ENST00000420658.1_Splice_Site|AFAP1_ENST00000358461.2_Splice_Site			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACATCAAAACCTGTAAGAATT	0.532																																																	0													49	45	47					4																	7870447		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.128-1G>T	4.37:g.7870447C>A			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Splice_Site	SNP	-	e2-1	ENST00000360265.4	37	c.128-1	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381583	0.42207	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5872	0.91194	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFAP1	7921347	1.000000	0.71417	0.930000	0.37139	0.396000	0.30629	4.712000	0.61888	2.467000	0.83353	0.561000	0.74099	.	AFAP1	-	-	ENSG00000196526		0.532	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0	23	0	C	NM_021638	Intron	7870447	-1	tier1	-	no_errors	ENST00000420658	ensembl	human	known	74_37	splice_site	42.86	12	9	SNP	1.000	A	A	7870447	C	A	7870447	5	1	58	1	0	0	0	0	0	0	1	0	353	695	24	3	2381	3	AFAP1	4	7870447	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	826869	7870447	183283829	569	14952											
HTRA3	94031	genome.wustl.edu	37	chr4	8293255	8293255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgggcctccgggactcCgacatggactacatccagac	9	6	12	14	2	0	1	0	0	0	1	3	5	3	3	4	3	2	1	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:8293255C>T	ENST00000307358.2	+	4	1071	c.867C>T	c.(865-867)tcC>tcT	p.S289S	HTRA3_ENST00000382512.3_Silent_p.S289S	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	289	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCCGGGACTCCGACATGGACT	0.637																																																	0													37	33	34					4																	8293255		2203	4300	6503	SO:0001819	synonymous_variant	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.867C>T	4.37:g.8293255C>T			Q7Z7A2	Silent	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.S289	ENST00000307358.2	37	c.867	CCDS3400.1	4																																																																																			HTRA3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	ENSG00000170801		0.637	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0	32	0	C	NM_053044		8293255	1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	silent	50.00	11	11	SNP	0.147	T	T	8293255	C	T	8293255	2	4	58	1	0	0	0	0	0	0	0	1	7482	639	23	1		1	HTRA3	4	8293255	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	422808	8293255	182861021	570	14953											
SLIT2	9353	genome.wustl.edu	37	chr4	20530701	20530701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacaaaatcccggagcacaTtccccagtacactgcagagt	14	6	7	14	1	0	1	0	0	0	1	2	2	2	2	3	1	4	3	3	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:20530701T>C	ENST00000504154.1	+	16	1844	c.1592T>C	c.(1591-1593)aTt>aCt	p.I531T	SLIT2_ENST00000503823.1_Missense_Mutation_p.I523T|SLIT2_ENST00000273739.5_Missense_Mutation_p.I535T|MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000503837.1_Missense_Mutation_p.I527T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	531	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCGGAGCACATTCCCCAGTAC	0.458																																																	0													100	98	99					4																	20530701		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1592T>C	4.37:g.20530701T>C	ENSP00000422591:p.Ile531Thr		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.I531T	ENST00000504154.1	37	c.1592	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919765	0.52653	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	6.07	6.07	0.98685	Leucine-rich repeat-containing N-terminal (2);	0.044116	0.85682	D	0.000000	D	0.98883	0.9622	H	0.94698	3.57	0.80722	D	1	D;D	0.63046	0.966;0.992	P;D	0.71184	0.865;0.972	D	0.99572	1.0971	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	523;531	O94813-3;O94813	.;SLIT2_HUMAN	T	523;531;535;527;527	ENSP00000427548:I523T;ENSP00000422591:I531T;ENSP00000273739:I535T;ENSP00000422261:I527T	ENSP00000273739:I535T	I	+	2	0	SLIT2	20139799	1.000000	0.71417	0.989000	0.46669	0.312000	0.27988	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	ATT	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000145147		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	42	0	T			20530701	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	64.29	15	27	SNP	1.000	C	C	20530701	T	C	20530701	3	2	58	1	0	0	0	0	1	0	0	0	14785	1493	52	4	1654	4	SLIT2	4	20530701	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	12237446	20530701	170623575	571	14954											
SLIT2	9353	genome.wustl.edu	37	chr4	20618777	20618778	+	Frame_Shift_Ins	INS	-	-	C																															gccaggaaggatggatggggINScccctctgtgaccaacggac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:20618777_20618778insC	ENST00000504154.1	+	35	4344_4345	c.4092_4093insC	c.(4093-4095)cccfs	p.P1365fs	SLIT2_ENST00000503823.1_Frame_Shift_Ins_p.P1357fs|SLIT2_ENST00000273739.5_Frame_Shift_Ins_p.P1378fs|SLIT2_ENST00000503837.1_Frame_Shift_Ins_p.P1361fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1365	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATGGATGGGGCCCCTCTGTGA	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4096dupC	4.37:g.20618781_20618781dupC	ENSP00000422591:p.Pro1365fs		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1365fs	ENST00000504154.1	37	c.4092_4093	CCDS3426.1	4																																																																																			SLIT2	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000145147		0.574	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2		0	77	0	-			20618778	1	tier1		no_errors	ENST00000504154	ensembl	human	known	74_37	frame_shift_ins	36.67	38	22	INS	0.303:0.926	C	C	20618778	-	C	20618777	7	5	58	1	0	1	1	0	0	0	0	0	14785	1190	42	0	4230	0	SLIT2	4	20618777	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	88076	20618777	170535499	572	14955											
SEL1L3	23231	genome.wustl.edu	37	chr4	25780793	25780793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccatgtgtccaccttgCgcagccttatggaaatattc	8	13	7	13	1	0	0	0	0	0	0	3	1	2	1	5	1	2	1	5	1	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:25780793C>T	ENST00000399878.3	-	16	2612	c.2490G>A	c.(2488-2490)gcG>gcA	p.A830A	SEL1L3_ENST00000264868.5_Silent_p.A795A|SEL1L3_ENST00000502949.1_Silent_p.A677A	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	830						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTCCACCTTGCGCAGCCTTAT	0.473																																																	0													144	132	135					4																	25780793		1953	4148	6101	SO:0001819	synonymous_variant	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2490G>A	4.37:g.25780793C>T			A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.A830	ENST00000399878.3	37	c.2490	CCDS47037.1	4																																																																																			SEL1L3	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000091490		0.473	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	-	0	56	0	C	NM_015187		25780793	-1	tier1	-	no_errors	ENST00000399878	ensembl	human	known	74_37	silent	45.28	29	24	SNP	0.195	T	T	25780793	C	T	25780793	2	4	58	1	0	0	0	0	0	0	0	1	14057	755	27	1		1	SEL1L3	4	25780793	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5162016	25780793	165373483	573	14956											
PCDH7	5099	genome.wustl.edu	37	chr4	30723074	30723074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggaccgcgggatgggcGcgcggctggtgcttgggctg	3	7	21	10	6	0	0	0	0	0	0	0	2	0	2	1	6	2	3	1	6	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:30723074G>A	ENST00000361762.2	+	1	1038	c.30G>A	c.(28-30)gcG>gcA	p.A10A	PCDH7_ENST00000543491.1_Silent_p.A10A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	10					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGGGATGGGCGCGCGGCTGGT	0.731																																																	0													7	9	8					4																	30723074		2145	4174	6319	SO:0001819	synonymous_variant	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"Cadherins / Protocadherins : Non-clustered"	8659	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 120"	602988	"BH-protocadherin (brain-heart)"			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.30G>A	4.37:g.30723074G>A			O60246|O60247|Q4W5C4	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A10	ENST00000361762.2	37	c.30	CCDS33971.1	4																																																																																			PCDH7	-	NULL	ENSG00000169851		0.731	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	-	0	47	0	G	NM_032457, NM_002589		30723074	1	tier1	-	no_errors	ENST00000543491	ensembl	human	known	74_37	silent	33.33	24	12	SNP	1.000	A	A	30723074	G	A	30723074	2	1	58	1	0	0	0	0	0	0	0	1	11555	1074	38	1		1	PCDH7	4	30723074	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4942281	30723074	160431202	574	14957											
ARAP2	116984	genome.wustl.edu	37	chr4	36160352	36160352	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaagagaaaaaatacCttcaagcagttttttctctg	18	11	6	6	0	2	2	1	0	1	2	3	3	2	2	1	0	2	2	1	0	8	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:36160352C>A	ENST00000303965.4	-	15	3241	c.2752G>T	c.(2752-2754)Gag>Tag	p.E918*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	918	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAAAAAATACCTTCAAGCAGT	0.303																																																	0													21	24	23					4																	36160352		2193	4296	6489	SO:0001630	splice_region_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2752+1G>T	4.37:g.36160352C>A			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E918*	ENST00000303965.4	37	c.2752	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.666139	0.99687	.	.	ENSG00000047365	ENST00000303965	.	.	.	6.17	6.17	0.99709	.	0.186447	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	.	.	.	X	918	.	.	E	-	1	0	ARAP2	35836747	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.649000	0.46656	2.941000	0.99782	0.655000	0.94253	GAG	ARAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000047365		0.303	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	45	0	C	NM_015230	Nonsense_Mutation	36160352	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	nonsense	33.33	20	10	SNP	1.000	A	A	36160352	C	A	36160352	5	1	58	1	0	0	0	0	0	0	1	0	839	695	24	3	2438	3	ARAP2	4	36160352	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5437278	36160352	154993924	575	14958											
ARAP2	116984	genome.wustl.edu	37	chr4	36212270	36212270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtattctgattcagaaGcagtgtctatcaaaaaattg	14	14	8	5	0	4	3	2	2	2	1	4	3	4	3	0	0	1	2	0	0	6	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:36212270G>T	ENST00000303965.4	-	6	1718	c.1229C>A	c.(1228-1230)gCt>gAt	p.A410D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	410					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGATTCAGAAGCAGTGTCTAT	0.343																																																	0													125	132	130					4																	36212270		2203	4300	6503	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1229C>A	4.37:g.36212270G>T	ENSP00000302895:p.Ala410Asp		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.A410D	ENST00000303965.4	37	c.1229	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960356	0.34565	.	.	ENSG00000047365	ENST00000303965	T	0.09911	2.93	5.6	4.75	0.60458	.	0.412070	0.25377	N	0.031111	T	0.13756	0.0333	M	0.62723	1.935	0.30102	N	0.807325	B;B	0.18741	0.03;0.001	B;B	0.21151	0.033;0.003	T	0.05007	-1.0912	10	0.26408	T	0.33	.	13.2121	0.59830	0.0:0.0:0.8405:0.1595	.	340;410	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	D	410	ENSP00000302895:A410D	ENSP00000302895:A410D	A	-	2	0	ARAP2	35888665	1.000000	0.71417	0.790000	0.31976	0.786000	0.44442	3.118000	0.50414	1.350000	0.45770	0.585000	0.79938	GCT	ARAP2	-	NULL	ENSG00000047365		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	47	0	G	NM_015230		36212270	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	6.35	58	4	SNP	0.967	T	T	36212270	G	T	36212270	3	4	58	1	0	0	0	0	1	0	0	0	839	971	34	3	3997	3	ARAP2	4	36212270	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	51918	36212270	154942006	576	14959											
KLF3	51274	genome.wustl.edu	37	chr4	38690459	38690460	+	Frame_Shift_Ins	INS	-	-	A																															ccttcttccagcccaccgatINSaaaaaaatactcaccccctt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:38690459_38690460insA	ENST00000261438.5	+	3	616_617	c.311_312insA	c.(310-315)ataaaafs	p.IK104fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.IK104fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATACT	0.614																																																	0																																										SO:0001589	frameshift_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.318dupA	4.37:g.38690466_38690466dupA	ENSP00000261438:p.Ile104fs		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y107fs	ENST00000261438.5	37	c.311_312	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.614	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2		0	47	0	-			38690460	1	tier1		no_errors	ENST00000261438	ensembl	human	known	74_37	frame_shift_ins	28.57	35	14	INS	0.010:0.008	A	A	38690460	-	A	38690459	7	5	58	1	0	1	1	0	0	0	0	0	8374	1406	49	0	317	0	KLF3	4	38690459	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	2478189	38690459	152463817	577	14960	62	2									
KLF3	51274	genome.wustl.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-																															ccttcttccagcccaccgatAaaaaaatactcacccccttc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:38690460delA	ENST00000261438.5	+	3	617	c.312delA	c.(310-312)atafs	p.I104fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.I104fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GCCCACCGATAAAAAAATACT	0.617																																																	0													69	70	69					4																	38690460		2203	4300	6503	SO:0001589	frameshift_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.312delA	4.37:g.38690460delA	ENSP00000261438:p.Ile104fs		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K106fs	ENST00000261438.5	37	c.312	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.617	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2		0	46	0	A			38690460	1	tier1		no_errors	ENST00000261438	ensembl	human	known	74_37	frame_shift_del	32.65	33	16	DEL	0.008	-	-	38690460	A	-	38690460	7	5	58	1	0	1	0	1	0	0	0	0	8374	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1	38690460	152463816	578	14961	62	2									
KLF3	51274	genome.wustl.edu	37	chr4	38690547	38690547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggcagctgccctctcgcgGcatggaatacggagcccggg	7	6	15	13	4	1	0	0	0	1	0	2	2	1	2	2	5	4	3	2	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:38690547G>A	ENST00000261438.5	+	3	704	c.399G>A	c.(397-399)cgG>cgA	p.R133R	KLF3_ENST00000514033.1_Silent_p.R133R	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	133	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CCCTCTCGCGGCATGGAATAC	0.627																																																	0													40	45	43					4																	38690547		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.399G>A	4.37:g.38690547G>A			Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R133	ENST00000261438.5	37	c.399	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.627	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	-	0	66	0	G			38690547	1	tier1	-	no_errors	ENST00000261438	ensembl	human	known	74_37	silent	37.29	37	22	SNP	0.894	A	A	38690547	G	A	38690547	2	1	58	1	0	0	0	0	0	0	0	1	8374	1190	42	3		3	KLF3	4	38690547	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	87	38690547	152463729	579	14962											
WDR19	57728	genome.wustl.edu	37	chr4	39206803	39206804	+	Frame_Shift_Ins	INS	-	-	T																															tgcttggcaagaaaactttgINSttttttttaaatctgaatga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:39206803_39206804insT	ENST00000399820.3	+	8	787_788	c.633_634insT	c.(634-636)tttfs	p.F212fs	WDR19_ENST00000288634.7_Frame_Shift_Ins_p.F52fs|WDR19_ENST00000506503.1_Frame_Shift_Ins_p.F212fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	212					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AGAAAACTTTGTTTTTTTTAAA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"WD repeat domain containing", "Intraflagellar transport homologs"	18340	protein-coding gene	gene with protein product	"intraflagellar transport 144 homolog (Chlamydomonas)"	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.641dupT	4.37:g.39206811_39206811dupT	ENSP00000382717:p.Phe212fs		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L213fs	ENST00000399820.3	37	c.633_634	CCDS47042.1	4																																																																																			WDR19	-	superfamily_WD40_repeat_dom	ENSG00000157796		0.361	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1		0	47	0	-			39206804	1	tier1		no_errors	ENST00000399820	ensembl	human	known	74_37	frame_shift_ins	41.18	30	21	INS	0.993:0.998	T	T	39206804	-	T	39206803	7	5	58	1	0	1	1	0	0	0	0	0	17328	1368	48	0	663	0	WDR19	4	39206803	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	516256	39206803	151947473	580	14963											
RBM47	54502	genome.wustl.edu	37	chr4	40434715	40434715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgacagcggctgcggCggctgcggccgcggctgcgg	4	4	21	12	7	0	1	0	1	0	0	0	2	0	2	1	7	4	3	1	7	1	0	rs564837143|rs528269773	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:40434715C>T	ENST00000381793.2	-	5	1891	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	RBM47_ENST00000514014.1_Missense_Mutation_p.A461T|RBM47_ENST00000295971.7_Missense_Mutation_p.A499T|RBM47_ENST00000381795.6_Missense_Mutation_p.A430T|RBM47_ENST00000515809.1_5'Flank|RBM47_ENST00000319592.4_Missense_Mutation_p.A430T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	499	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						gcggctgcggcggctgcggcc	0.577																																																	0													32	37	35					4																	40434715		2202	4300	6502	SO:0001583	missense	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"RNA binding motif (RRM) containing"	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1495G>A	4.37:g.40434715C>T	ENSP00000371212:p.Ala499Thr		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.A499T	ENST00000381793.2	37	c.1495	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369908	0.42003	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.20598	2.06;2.21;2.06;2.21;2.23	2.46	2.46	0.29980	.	0.049593	0.85682	D	0.000000	T	0.33030	0.0849	L	0.40543	1.245	0.51012	D	0.999902	D;B	0.89917	1.0;0.01	D;B	0.79108	0.992;0.002	T	0.03403	-1.1040	10	0.29301	T	0.29	-16.2661	12.8917	0.58076	0.0:1.0:0.0:0.0	.	430;499	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	430;499;430;499;461	ENSP00000320108:A430T;ENSP00000371212:A499T;ENSP00000371214:A430T;ENSP00000295971:A499T;ENSP00000423243:A461T	ENSP00000295971:A499T	A	-	1	0	RBM47	40129472	0.984000	0.35163	0.088000	0.20740	0.007000	0.05969	2.634000	0.46528	1.358000	0.45922	0.491000	0.48974	GCC	RBM47	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.577	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	-	0	59	0	C	NM_019027		40434715	-1	tier1	-	no_errors	ENST00000295971	ensembl	human	known	74_37	missense	42.19	37	27	SNP	0.953	T	T	40434715	C	T	40434715	3	4	58	1	0	0	0	0	1	0	0	0	13186	768	27	1	294	1	RBM47	4	40434715	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1227912	40434715	150719561	581	14964											
KCTD8	386617	genome.wustl.edu	37	chr4	44177100	44177100	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgagctgttgcctgctGggcactggatgggttgtcct	3	14	16	8	0	0	1	0	1	0	0	1	2	1	2	2	4	3	5	2	4	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:44177100G>A	ENST00000360029.3	-	2	1412	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	377					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTTGCCTGCTGGGCACTGGAT	0.502										HNSCC(17;0.042)																																							0													153	145	147					4																	44177100		2203	4300	6503	SO:0001587	stop_gained	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1129C>T	4.37:g.44177100G>A	ENSP00000353129:p.Gln377*		A2RU39	Nonsense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.Q377*	ENST00000360029.3	37	c.1129	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	G	3.295	-0.144054	0.06627	.	.	ENSG00000183783	ENST00000360029	.	.	.	4.47	3.62	0.41486	.	0.144769	0.31577	N	0.007419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.8757	0.52546	0.0854:0.0:0.9146:0.0	.	.	.	.	X	377	.	ENSP00000353129:Q377X	Q	-	1	0	KCTD8	43871857	1.000000	0.71417	0.893000	0.35052	0.088000	0.18126	5.697000	0.68295	1.233000	0.43693	-0.237000	0.12165	CAG	KCTD8	-	NULL	ENSG00000183783		0.502	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0	107	0	G			44177100	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	nonsense	10.64	126	15	SNP	0.968	A	A	44177100	G	A	44177100	4	1	58	1	0	0	0	0	0	1	0	0	8142	1357	47	3	296	3	KCTD8	4	44177100	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3742385	44177100	146977176	582	14965											
GABRB1	2560	genome.wustl.edu	37	chr4	47427773	47427773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgctcacgagcgtgaGcgaccccaaggccaccatgt	10	5	13	13	3	1	1	1	1	0	0	1	4	1	2	4	2	3	1	4	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:47427773G>A	ENST00000295454.3	+	9	1455	c.1163G>A	c.(1162-1164)aGc>aAc	p.S388N	GABRB1_ENST00000538619.1_Missense_Mutation_p.S318N	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	388					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGAGCGTGAGCGACCCCAAG	0.622																																																	0													59	62	61					4																	47427773		2203	4300	6503	SO:0001583	missense	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1163G>A	4.37:g.47427773G>A	ENSP00000295454:p.Ser388Asn		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S388N	ENST00000295454.3	37	c.1163	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	8.911	0.958802	0.18507	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.84516	-1.86;-1.86	5.48	4.64	0.57946	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.658250	0.14810	N	0.297102	T	0.80423	0.4620	L	0.52364	1.645	0.18873	N	0.999988	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.69320	-0.5176	10	0.41790	T	0.15	-7.1545	9.344	0.38098	0.1122:0.134:0.7538:0.0	.	318;388	F5GXV5;P18505	.;GBRB1_HUMAN	N	388;318	ENSP00000295454:S388N;ENSP00000440330:S318N	ENSP00000295454:S388N	S	+	2	0	GABRB1	47122530	0.516000	0.26218	0.463000	0.27130	0.035000	0.12851	1.869000	0.39519	1.547000	0.49401	0.650000	0.86243	AGC	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.622	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0	59	0	G			47427773	1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.191	A	A	47427773	G	A	47427773	3	1	58	1	0	0	0	0	1	0	0	0	6190	971	34	3	1197	3	GABRB1	4	47427773	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3250673	47427773	143726503	583	14966											
CORIN	10699	genome.wustl.edu	37	chr4	47788868	47788868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtatttgtaagaataacatCggacccttggatttcaccat	12	14	7	8	1	1	1	1	0	0	1	2	3	1	3	2	2	1	2	2	2	4	6	rs186748019	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:47788868C>T	ENST00000273857.4	-	3	282	c.283G>A	c.(283-285)Gat>Aat	p.D95N	CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.D95N|CORIN_ENST00000504584.1_Missense_Mutation_p.D95N|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	95					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGAATAACATCGGACCCTTGG	0.413													C|||	2	0.000399361	0.0015	0	5008	,	,		18081	0		0	False		,,,				2504	0																0								C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	95	88	90		283	2.9	0	4		90	0,8600		0,0,4300	yes	missense	CORIN	NM_006587.2	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	95/1043	47788868	3,13003	2203	4300	6503	SO:0001583	missense	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.283G>A	4.37:g.47788868C>T	ENSP00000273857:p.Asp95Asn		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.D95N	ENST00000273857.4	37	c.283	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	C	9.386	1.074253	0.20227	6.81E-4	0.0	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93133	-2.75;-2.56;-3.17	4.66	2.91	0.33838	.	0.981664	0.08340	N	0.960994	D	0.83613	0.5292	N	0.24115	0.695	0.09310	N	1	P;P;B	0.43352	0.495;0.804;0.368	B;B;B	0.25884	0.043;0.064;0.017	T	0.73148	-0.4074	10	0.30854	T	0.27	.	7.1553	0.25635	0.0:0.7955:0.0:0.2045	.	95;95;95	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	N	95	ENSP00000273857:D95N;ENSP00000425401:D95N;ENSP00000423216:D95N	ENSP00000273857:D95N	D	-	1	0	CORIN	47483625	0.370000	0.25047	0.004000	0.12327	0.025000	0.11179	1.336000	0.33850	0.700000	0.31782	0.461000	0.40582	GAT	CORIN	-	pirsf_Peptidase_S1A_corin	ENSG00000145244		0.413	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	-	0	49	0	C			47788868	-1	tier1	-	no_errors	ENST00000273857	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.004	T	T	47788868	C	T	47788868	3	4	58	1	0	0	0	0	1	0	0	0	3759	884	31	1	2925	1	CORIN	4	47788868	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	361095	47788868	143365408	584	14967											
TXK	7294	genome.wustl.edu	37	chr4	48088568	48088568	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacctggatatgtgaccGccattcacctaaatggacca	12	9	8	12	1	1	1	1	1	0	0	1	3	1	3	5	2	2	1	5	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:48088568G>T	ENST00000264316.4	-	10	956	c.871C>A	c.(871-873)Cgg>Agg	p.R291R	TXK_ENST00000510457.1_5'Flank	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATATGTGACCGCCATTCACCT	0.418																																																	0													204	172	183					4																	48088568		2203	4300	6503	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.871C>A	4.37:g.48088568G>T			Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R291	ENST00000264316.4	37	c.871	CCDS3480.1	4																																																																																			TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000074966		0.418	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	-	0	78	0	G	NM_003328		48088568	-1	tier1	-	no_errors	ENST00000264316	ensembl	human	known	74_37	silent	8.70	63	6	SNP	0.997	T	T	48088568	G	T	48088568	2	4	58	1	0	0	0	0	0	0	0	1	16835	1086	38	2		2	TXK	4	48088568	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	299700	48088568	143065708	585	14968											
OCIAD2	132299	genome.wustl.edu	37	chr4	48887522	48887522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagctgaaggctgagaGtctcccttctcacttaatcc	10	11	9	11	0	2	2	1	2	2	1	5	4	3	3	2	2	1	2	2	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:48887522G>T	ENST00000508632.1	-	7	676	c.444C>A	c.(442-444)gaC>gaA	p.D148E	OCIAD2_ENST00000273860.4_3'UTR|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	148						endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AAGGCTGAGAGTCTCCCTTCT	0.368																																																	0													185	180	182					4																	48887522		2203	4300	6503	SO:0001583	missense	0			BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.444C>A	4.37:g.48887522G>T	ENSP00000423014:p.Asp148Glu		B4DPE7|Q8N544	Missense_Mutation	SNP	pfam_OCIA	p.D148E	ENST00000508632.1	37	c.444	CCDS33981.1	4	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242112	0.10077	.	.	ENSG00000145247	ENST00000508632	T	0.41758	0.99	5.25	-4.51	0.03483	.	0.562361	0.17338	N	0.177837	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	9	.	.	.	1.3177	6.0446	0.19752	0.3698:0.2579:0.3723:0.0	.	148	Q56VL3	OCAD2_HUMAN	E	148	ENSP00000423014:D148E	.	D	-	3	2	OCIAD2	48582279	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	-0.089000	0.11180	-1.031000	0.03308	-0.302000	0.09304	GAC	OCIAD2	-	NULL	ENSG00000145247		0.368	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OCIAD2	HGNC	protein_coding	OTTHUMT00000361984.5	-	0	48	0	G	NM_152398		48887522	-1	tier1	-	no_errors	ENST00000508632	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.000	T	T	48887522	G	T	48887522	3	4	58	1	0	0	0	0	1	0	0	0	10857	1020	36	3	24	3	OCIAD2	4	48887522	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	798954	48887522	142266754	586	14969											
LRRC66	339977	genome.wustl.edu	37	chr4	52860637	52860637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgtttgctgtaaaaCgtccacatttgaaaattcta	11	15	9	6	1	1	1	0	1	1	0	2	1	2	1	1	2	2	3	1	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:52860637C>T	ENST00000343457.3	-	4	2557	c.2551G>A	c.(2551-2553)Gtt>Att	p.V851I		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	851						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGCTGTAAAACGTCCACATTT	0.408																																																	0													88	86	87					4																	52860637		1893	4116	6009	SO:0001583	missense	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2551G>A	4.37:g.52860637C>T	ENSP00000341944:p.Val851Ile			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V851I	ENST00000343457.3	37	c.2551	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	C	5.073	0.199151	0.09652	.	.	ENSG00000188993	ENST00000343457	T	0.26373	1.74	4.11	-5.85	0.02311	.	2.464530	0.01427	N	0.014615	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.14144	-1.0483	10	0.19147	T	0.46	0.3723	2.4344	0.04479	0.1531:0.436:0.1559:0.255	.	851	Q68CR7	LRC66_HUMAN	I	851	ENSP00000341944:V851I	ENSP00000341944:V851I	V	-	1	0	LRRC66	52555394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.987000	0.03743	-0.737000	0.04824	-0.768000	0.03414	GTT	LRRC66	-	NULL	ENSG00000188993		0.408	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	-	0	85	0	C	NM_001024611		52860637	-1	tier1	-	no_errors	ENST00000343457	ensembl	human	known	74_37	missense	28.75	57	23	SNP	0.000	T	T	52860637	C	T	52860637	3	4	58	1	0	0	0	0	1	0	0	0	9053	536	19	1	95	1	LRRC66	4	52860637	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3973115	52860637	138293639	587	14970											
KIT	3815	genome.wustl.edu	37	chr4	55561889	55561889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagccaccaacaccggCaaatacacgtgcaccaacaa	17	2	7	15	2	0	1	0	0	0	1	0	1	0	1	4	1	5	3	4	1	6	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:55561889C>T	ENST00000288135.5	+	2	376	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	93	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAACACCGGCAAATACACGT	0.428		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													84	79	80					4																	55561889		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.279C>T	4.37:g.55561889C>T			B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G93	ENST00000288135.5	37	c.279	CCDS3496.1	4																																																																																			KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub	ENSG00000157404		0.428	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	31	0	C			55561889	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	silent	46.15	21	18	SNP	0.995	T	T	55561889	C	T	55561889	2	4	58	1	0	0	0	0	0	0	0	1	8356	697	25	3		3	KIT	4	55561889	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2701252	55561889	135592387	588	14971											
AASDH	132949	genome.wustl.edu	37	chr4	57209044	57209044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtaaattcccatctacaCagccaatacaaatatactgt	17	10	4	10	0	1	1	0	0	1	1	2	1	2	1	2	0	4	1	2	0	8	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:57209044C>T	ENST00000205214.6	-	14	3044	c.2864G>A	c.(2863-2865)tGt>tAt	p.C955Y	AASDH_ENST00000513376.1_Missense_Mutation_p.C855Y|AASDH_ENST00000451613.1_Intron|AASDH_ENST00000434343.2_Missense_Mutation_p.C470Y|AASDH_ENST00000602986.1_Silent_p.L747L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	955					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCCATCTACACAGCCAATACA	0.333																																																	0													93	83	86					4																	57209044		2203	4300	6503	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2864G>A	4.37:g.57209044C>T	ENSP00000205214:p.Cys955Tyr		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.C955Y	ENST00000205214.6	37	c.2864	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208388	0.39003	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.56444	0.46;0.46;0.46	6.05	4.28	0.50868	Quinonprotein alcohol dehydrogenase-like (2);	0.137208	0.64402	D	0.000002	T	0.70710	0.3255	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.73767	-0.3879	10	0.87932	D	0	-13.1188	13.3415	0.60547	0.1267:0.7517:0.1216:0.0	.	955	Q4L235	ACSF4_HUMAN	Y	955;855;470	ENSP00000205214:C955Y;ENSP00000423760:C855Y;ENSP00000392158:C470Y	ENSP00000205214:C955Y	C	-	2	0	AASDH	56903801	1.000000	0.71417	0.974000	0.42286	0.064000	0.16182	5.073000	0.64395	0.843000	0.35070	0.650000	0.86243	TGT	AASDH	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000157426		0.333	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	-	0	21	0	C	NM_181806		57209044	-1	tier1	-	no_errors	ENST00000205214	ensembl	human	known	74_37	missense	46.67	16	14	SNP	0.999	T	T	57209044	C	T	57209044	3	4	58	1	0	0	0	0	1	0	0	0	22	478	17	3	440	3	AASDH	4	57209044	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1647155	57209044	133945232	589	14972											
LPHN3	23284	genome.wustl.edu	37	chr4	62812670	62812670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcctgtataacaacttgGgtccttatttatccacggag	9	15	8	9	1	0	0	0	0	0	0	3	1	3	1	3	2	2	1	3	2	5	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:62812670G>T	ENST00000514591.1	+	15	2583	c.2254G>T	c.(2254-2256)Ggt>Tgt	p.G752C	LPHN3_ENST00000506720.1_Missense_Mutation_p.G820C|LPHN3_ENST00000508693.1_Missense_Mutation_p.G820C|LPHN3_ENST00000507164.1_Missense_Mutation_p.G820C|LPHN3_ENST00000512091.2_Missense_Mutation_p.G752C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G820C|LPHN3_ENST00000511324.1_Missense_Mutation_p.G820C|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.G752C|LPHN3_ENST00000509896.1_Missense_Mutation_p.G820C|LPHN3_ENST00000514157.1_Missense_Mutation_p.G752C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G752C|LPHN3_ENST00000506746.1_Missense_Mutation_p.G820C|LPHN3_ENST00000508946.1_Missense_Mutation_p.G752C|LPHN3_ENST00000545650.1_Missense_Mutation_p.G752C|LPHN3_ENST00000506700.1_Missense_Mutation_p.G752C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	739					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TAACAACTTGGGTCCTTATTT	0.393																																																	0													261	243	249					4																	62812670		1877	4117	5994	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2254G>T	4.37:g.62812670G>T	ENSP00000422533:p.Gly752Cys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.G820C	ENST00000514591.1	37	c.2458	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.971556|4.971556	0.92919|0.92919	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.22539|.	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Domain of unknown function DUF3497 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.75064|0.75064	0.3799|0.3799	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.73222|0.73222	-0.4051|-0.4051	10|6	0.87932|.	D|.	0|.	.|.	19.4278|19.4278	0.94751|0.94751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	752;739;752|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	C|V	752;752;820;820;752;752;739;752;820;820;820;752;752;752;820;820;752|209	ENSP00000423388:G752C;ENSP00000422533:G752C;ENSP00000423787:G820C;ENSP00000425033:G820C;ENSP00000424120:G752C;ENSP00000439831:G752C;ENSP00000421476:G820C;ENSP00000424030:G820C;ENSP00000421372:G820C;ENSP00000425201:G752C;ENSP00000423434:G752C;ENSP00000421627:G752C;ENSP00000420931:G820C;ENSP00000425884:G820C;ENSP00000424258:G752C|.	ENSP00000280009:G752C|.	G|G	+|+	1|2	0|0	LPHN3|LPHN3	62495265|62495265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.007000|8.007000	0.88571|0.88571	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	GGT|GGG	LPHN3	-	pfam_DUF3497	ENSG00000150471		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0	129	0	G			62812670	1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	7.56	110	9	SNP	1.000	T	T	62812670	G	T	62812670	3	4	58	1	0	0	0	0	1	0	0	0	8952	1232	43	3	2304	3	LPHN3	4	62812670	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5603626	62812670	128341606	590	14973											
EPHA5	2044	genome.wustl.edu	37	chr4	66535355	66535355	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccagaggggagcccgtcGaggtgcagagtagcagccgg	8	4	18	11	4	0	2	0	0	0	2	2	4	1	3	3	4	4	3	3	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:66535355G>A	ENST00000273854.3	-	1	706	c.106C>T	c.(106-108)Cga>Tga	p.R36*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.R36*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.R36*|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.R36*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	36					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGCCCGTCGAGGTGCAGAG	0.751										TSP Lung(17;0.13)																																							0													12	15	14					4																	66535355		2184	4289	6473	SO:0001587	stop_gained	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.106C>T	4.37:g.66535355G>A	ENSP00000273854:p.Arg36*		Q7Z3F2	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R36*	ENST00000273854.3	37	c.106	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	42	9.232237	0.99108	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.51	3.69	0.42338	.	0.330734	0.20130	N	0.098620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.4371	0.27162	0.0891:0.0:0.7454:0.1655	.	.	.	.	X	36	.	ENSP00000273854:R36X	R	-	1	2	EPHA5	66217950	0.918000	0.31147	0.865000	0.33974	0.688000	0.40055	2.512000	0.45485	1.458000	0.47871	0.655000	0.94253	CGA	EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.751	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	19	0	G	NM_004439		66535355	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	nonsense	50.00	4	4	SNP	0.363	A	A	66535355	G	A	66535355	4	1	58	1	0	0	0	0	0	1	0	0	5186	1066	37	1	3079	1	EPHA5	4	66535355	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3722685	66535355	124618921	591	14974											
UBA6	55236	genome.wustl.edu	37	chr4	68566794	68566794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaggaagaacaggacGcctcttccccctgatgggcg	8	6	11	16	2	1	2	0	1	1	1	3	4	3	4	5	3	1	0	5	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:68566794G>A	ENST00000322244.5	-	1	103	c.44C>T	c.(43-45)gCg>gTg	p.A15V	UBA6-AS1_ENST00000498917.2_RNA|UBA6_ENST00000420827.2_Missense_Mutation_p.A15V|UBA6-AS1_ENST00000506606.1_RNA|UBA6-AS1_ENST00000514109.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	15					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGAACAGGACGCCTCTTCCCC	0.657											OREG0016213	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47	45	45					4																	68566794		2203	4300	6503	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.44C>T	4.37:g.68566794G>A	ENSP00000313454:p.Ala15Val	1108	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A15V	ENST00000322244.5	37	c.44	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304703	0.40795	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.65178	0.84;-0.14	3.62	3.62	0.41486	.	0.000000	0.37577	N	0.002028	T	0.64057	0.2564	N	0.22421	0.69	0.32009	N	0.602318	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.987;0.939	T	0.67440	-0.5670	10	0.46703	T	0.11	4.9183	11.0606	0.47944	0.0:0.0:1.0:0.0	.	15;15;15	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	V	15	ENSP00000313454:A15V;ENSP00000399234:A15V	ENSP00000313454:A15V	A	-	2	0	UBA6	68249389	0.975000	0.34042	0.854000	0.33618	0.109000	0.19521	3.463000	0.53050	2.295000	0.77249	0.650000	0.86243	GCG	UBA6	-	NULL	ENSG00000033178		0.657	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	-	0	73	0	G	NM_018227		68566794	-1	tier1	-	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	39.66	35	23	SNP	0.864	A	A	68566794	G	A	68566794	3	1	58	1	0	0	0	0	1	0	0	0	16881	1087	38	1	3246	1	UBA6	4	68566794	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2031439	68566794	122587482	592	14975											
MOBKL1A	92597	genome.wustl.edu	37	chr4	71840885	71840885	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagatatgagtatcattgGgcagatggaacgaacataaa	16	9	11	5	1	1	3	1	1	0	2	1	5	1	4	0	2	3	3	0	2	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:71840885G>A	ENST00000309395.2	+	4	492	c.291G>A	c.(289-291)tgG>tgA	p.W97*	MOB1B_ENST00000396051.2_Nonsense_Mutation_p.W102*|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	97					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										AGTATCATTGGGCAGATGGAA	0.348																																																	0													90	89	89					4																	71840885		2203	4300	6503	SO:0001587	stop_gained	0			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"MOB kinase activators"	29801	protein-coding gene	gene with protein product	"Mob4A protein"	609282	"MOB1, Mps One Binder kinase activator-like 1A (yeast)", "MOB1 Mps One Binder homolog B (yeast)"	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.291G>A	4.37:g.71840885G>A	ENSP00000310189:p.Trp97*		B2R8U6|B4DRY3|Q8IY23	Nonsense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.W97*	ENST00000309395.2	37	c.291	CCDS34002.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.862876	0.97036	.	.	ENSG00000173542	ENST00000502869;ENST00000309395;ENST00000396051	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7993	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	102;97;102	.	ENSP00000310189:W97X	W	+	3	0	MOBKL1A	72059749	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.675000	0.98638	2.873000	0.98535	0.561000	0.74099	TGG	MOB1B	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000173542		0.348	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	HGNC	protein_coding	OTTHUMT00000362634.1	-	0	42	0	G	NM_173468		71840885	1	tier1	-	no_errors	ENST00000309395	ensembl	human	known	74_37	nonsense	36.00	48	27	SNP	1.000	A	A	71840885	G	A	71840885	4	1	58	1	0	0	0	0	0	1	0	0	9720	1241	43	3	305	3	MOBKL1A	4	71840885	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3274091	71840885	119313391	593	14976											
MTHFD2L	441024	genome.wustl.edu	37	chr4	75041109	75041109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcggtatattagttcagtTaccactaccaggtacataat	13	12	7	9	1	1	0	1	0	0	0	1	0	1	0	2	2	4	4	2	2	7	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:75041109T>C	ENST00000395759.2	+	3	467	c.440T>C	c.(439-441)tTa>tCa	p.L147S	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.L89S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.L89S|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.L12S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	147					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TTAGTTCAGTTACCACTACCA	0.353																																																	0													136	134	135					4																	75041109		2203	4300	6503	SO:0001583	missense	0			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.440T>C	4.37:g.75041109T>C	ENSP00000379108:p.Leu147Ser		Q6P079|Q8N560	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L147S	ENST00000395759.2	37	c.440	CCDS47075.1	4	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144497	0.77888	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.38887	1.11;1.47;1.11;1.16;1.56	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	H	0.95816	3.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.945	T	0.81822	-0.0756	10	0.87932	D	0	-19.034	13.3615	0.60659	0.0:0.0:0.0:1.0	.	147;89	Q9H903;Q9H903-3	MTD2L_HUMAN;.	S	12;147;89;89;89	ENSP00000405692:L12S;ENSP00000379108:L147S;ENSP00000330982:L89S;ENSP00000352012:L89S;ENSP00000321984:L89S	ENSP00000321984:L89S	L	+	2	0	MTHFD2L	75259973	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.298000	0.78815	2.262000	0.75019	0.523000	0.50628	TTA	MTHFD2L	-	pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	ENSG00000163738		0.353	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		-	0	85	0	T	NM_001004346		75041109	1	tier1	-	no_errors	ENST00000395759	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	C	C	75041109	T	C	75041109	3	2	58	1	0	0	0	0	1	0	0	0	9968	1764	61	4	450	4	MTHFD2L	4	75041109	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3200224	75041109	116113167	594	14977											
SEPT11	55752	genome.wustl.edu	37	chr4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacggtggcagagattaacGcaacaatgagtgtaagtcct	15	8	11	7	2	0	2	0	1	0	1	1	3	1	2	1	2	3	3	1	2	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											127	115	119					4																	77936159		2203	4300	6503	SO:0001583	missense	0			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.676G>A	4.37:g.77936159G>A	ENSP00000264893:p.Ala226Thr		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.A236T	ENST00000264893.6	37	c.706	CCDS34018.1	4	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846765	0.32606	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.36110	0.0955	N	0.17901	0.54	0.47994	D	0.999564	B;B;B	0.27316	0.145;0.015;0.175	B;B;B	0.21708	0.021;0.013;0.036	T	0.09015	-1.0694	10	0.25106	T	0.35	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	236;218;226	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	T	226;226;218;226;236;236	ENSP00000264893:A226T;ENSP00000426344:A226T;ENSP00000420839:A218T;ENSP00000424925:A226T;ENSP00000422896:A236T;ENSP00000443701:A236T	ENSP00000264893:A226T	A	+	1	0	SEPT11	78155183	1.000000	0.71417	0.381000	0.26106	0.006000	0.05464	4.064000	0.57506	2.687000	0.91594	0.655000	0.94253	GCA	SEPT11	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000138758		0.438	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEPT11	HGNC	protein_coding	OTTHUMT00000362676.1	-	0	61	0	G	NM_018243		77936159	1	tier1	-	no_errors	ENST00000541121	ensembl	human	known	74_37	missense	30.99	49	22	SNP	0.969	A	A	77936159	G	A	77936159	3	1	58	1	0	0	0	0	1	0	0	0	14106	1087	38	1	694	1	SEPT11	4	77936159	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2895050	77936159	113218117	595	14978											
FRAS1	80144	genome.wustl.edu	37	chr4	79350351	79350351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagctccacggctggCggtcagcccaggaggcagca	8	4	15	14	2	2	0	2	0	0	0	3	1	3	1	2	6	3	4	2	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:79350351C>T	ENST00000325942.6	+	36	5254	c.4814C>T	c.(4813-4815)gCg>gTg	p.A1605V	FRAS1_ENST00000264895.6_Missense_Mutation_p.A1605V	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1605					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCACGGCTGGCGGTCAGCCCA	0.527																																																	0													45	47	46					4																	79350351		2031	4194	6225	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4814C>T	4.37:g.79350351C>T	ENSP00000326330:p.Ala1605Val		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.A1605V	ENST00000325942.6	37	c.4814	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803121	0.16397	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.26810	1.71;1.71	5.61	-3.42	0.04825	.	0.464702	0.23551	N	0.046968	T	0.05868	0.0153	N	0.01464	-0.85	0.36609	D	0.875129	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.16928	-1.0386	10	0.37606	T	0.19	.	1.0112	0.01498	0.4855:0.1145:0.1859:0.214	.	1605;1605	E9PHH6;A2RRR8	.;.	V	1605;1605;25	ENSP00000326330:A1605V;ENSP00000264895:A1605V	ENSP00000264895:A1605V	A	+	2	0	FRAS1	79569375	1.000000	0.71417	0.002000	0.10522	0.004000	0.04260	2.678000	0.46900	-0.804000	0.04410	-2.513000	0.00187	GCG	FRAS1	-	NULL	ENSG00000138759		0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	-	0	91	0	C			79350351	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	42.72	59	44	SNP	0.277	T	T	79350351	C	T	79350351	3	4	58	1	0	0	0	0	1	0	0	0	6066	768	27	1	4956	1	FRAS1	4	79350351	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1414192	79350351	111803925	596	14979											
FRAS1	80144	genome.wustl.edu	37	chr4	79371317	79371317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaagggtctgtagcacGcatcacagaacagcacttga	12	8	9	12	1	2	2	1	1	1	1	3	2	3	2	1	1	3	4	1	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:79371317G>A	ENST00000264895.6	+	45	6727	c.6287G>A	c.(6286-6288)cGc>cAc	p.R2096H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2096					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGTAGCACGCATCACAGAA	0.458																																																	0													96	89	91					4																	79371317		1951	4156	6107	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6287G>A	4.37:g.79371317G>A	ENSP00000264895:p.Arg2096His		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.R2096H	ENST00000264895.6	37	c.6287	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	G	1.208	-0.630651	0.03584	.	.	ENSG00000138759	ENST00000264895	T	0.42131	0.98	5.9	2.31	0.28768	.	0.361243	0.30911	N	0.008621	T	0.26340	0.0643	L	0.38531	1.155	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.15723	-1.0427	10	0.27082	T	0.32	.	4.1055	0.10035	0.1909:0.2086:0.5021:0.0984	.	2096	E9PHH6	.	H	2096	ENSP00000264895:R2096H	ENSP00000264895:R2096H	R	+	2	0	FRAS1	79590341	0.726000	0.28059	0.981000	0.43875	0.019000	0.09904	0.348000	0.20031	0.125000	0.18397	-0.961000	0.02630	CGC	FRAS1	-	NULL	ENSG00000138759		0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		-	0	68	0	G			79371317	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.025	A	A	79371317	G	A	79371317	3	1	58	1	0	0	0	0	1	0	0	0	6066	1087	38	1	6540	1	FRAS1	4	79371317	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	20966	79371317	111782959	597	14980											
AGPAT9	84803	genome.wustl.edu	37	chr4	84519291	84519291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgaccagctgggccAtcgtctgtgacgtgtggtac	8	10	14	9	2	1	3	0	3	1	0	2	4	1	3	2	2	2	2	2	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:84519291A>G	ENST00000395226.2	+	11	1302	c.1084A>G	c.(1084-1086)Atc>Gtc	p.I362V	AGPAT9_ENST00000264409.4_Missense_Mutation_p.I362V	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	362					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAGCTGGGCCATCGTCTGTGA	0.453																																																	0													124	110	114					4																	84519291		2203	4300	6503	SO:0001583	missense	0			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1084A>G	4.37:g.84519291A>G	ENSP00000378651:p.Ile362Val		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.I362V	ENST00000395226.2	37	c.1084	CCDS3606.1	4	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518628	0.44763	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.46451	0.87;0.87	5.62	5.62	0.85841	.	0.098626	0.64402	D	0.000002	T	0.35595	0.0937	L	0.52905	1.665	0.58432	D	0.999998	B	0.32918	0.39	B	0.31290	0.127	T	0.13335	-1.0513	10	0.14252	T	0.57	-24.4403	11.7833	0.52028	0.8533:0.1466:0.0:0.0	.	362	Q53EU6	GPAT3_HUMAN	V	362	ENSP00000378651:I362V;ENSP00000264409:I362V	ENSP00000264409:I362V	I	+	1	0	AGPAT9	84738315	1.000000	0.71417	0.938000	0.37757	0.896000	0.52359	4.080000	0.57620	2.133000	0.65898	0.455000	0.32223	ATC	AGPAT9	-	NULL	ENSG00000138678		0.453	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	-	0	80	0	A	NM_032717		84519291	1	tier1	-	no_errors	ENST00000264409	ensembl	human	known	74_37	missense	51.81	40	43	SNP	1.000	G	G	84519291	A	G	84519291	3	3	58	1	0	0	0	0	1	0	0	0	392	217	8	4	1122	4	AGPAT9	4	84519291	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	5147974	84519291	106634985	598	14981											
SPP1	6696	genome.wustl.edu	37	chr4	88903739	88903739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgttgcccaggacctgaaCgcgccttctgattgggacag	7	8	12	14	3	1	2	0	2	1	0	1	4	1	4	4	2	2	1	4	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:88903739C>T	ENST00000395080.3	+	7	763	c.636C>T	c.(634-636)aaC>aaT	p.N212N	SPP1_ENST00000237623.7_Silent_p.N198N|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Silent_p.N185N	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	212					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AGGACCTGAACGCGCCTTCTG	0.532																																																	0													155	141	146					4																	88903739		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"Endogenous ligands"	11255	protein-coding gene	gene with protein product	"early T-lymphocyte activation 1"	166490	"osteopontin", "bone sialoprotein I"	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.636C>T	4.37:g.88903739C>T			B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.N212	ENST00000395080.3	37	c.636	CCDS43250.1	4																																																																																			SPP1	-	pfam_Osteopontin,smart_Osteopontin	ENSG00000118785		0.532	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	-	0	68	0	C			88903739	1	tier1	-	no_errors	ENST00000395080	ensembl	human	known	74_37	silent	35.29	44	24	SNP	0.000	T	T	88903739	C	T	88903739	2	4	58	1	0	0	0	0	0	0	0	1	15133	535	19	1		1	SPP1	4	88903739	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4384448	88903739	102250537	599	14982											
PPM1K	152926	genome.wustl.edu	37	chr4	89189444	89189444	+	Frame_Shift_Del	DEL	C	C	-																															ctgccatttacgtgaggctgCcccaaactattccaagctac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:89189444delC	ENST00000608933.1	-	5	1139	c.750delG	c.(748-750)gggfs	p.G250fs	PPM1K_ENST00000506423.1_5'Flank|PPM1K_ENST00000508256.1_Frame_Shift_Del_p.G31fs|PPM1K_ENST00000295908.7_Frame_Shift_Del_p.G250fs	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	250	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CGTGAGGCTGCCCCAAACTAT	0.423																																																	0													137	125	129					4																	89189444		2203	4300	6503	SO:0001589	frameshift_variant	0			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	25415	protein-coding gene	gene with protein product	"PP2C-type mitochondrial phosphoprotein phosphatase", "protein phosphatase 2C kappa", "branched-chain &#945;-ketoacid dehydrogenase phosphatase"	611065	"protein phosphatase 1K (PP2C domain containing)"			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.750delG	4.37:g.89189444delC	ENSP00000477341:p.Gly250fs		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.Q251fs	ENST00000608933.1	37	c.750	CCDS3629.1	4																																																																																			PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.423	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4		0	70	0	C	NM_152542		89189444	-1	tier1		no_errors	ENST00000608933	ensembl	human	known	74_37	frame_shift_del	33.33	50	25	DEL	0.984	-	-	89189444	C	-	89189444	7	5	58	1	0	1	0	1	0	0	0	0	12385	726	26	0	380	0	PPM1K	4	89189444	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	285705	89189444	101964832	600	14983											
PPM1K	152926	genome.wustl.edu	37	chr4	89189962	89189962	+	Frame_Shift_Del	DEL	A	A	-																															tgggttttccttttctacacAaaatagcccggctgtcccca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:89189962delA	ENST00000608933.1	-	4	1027	c.638delT	c.(637-639)ttgfs	p.L213fs	PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000295908.7_Frame_Shift_Del_p.L213fs	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	213	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTTTCTACACAAAATAGCCCG	0.448																																																	0													205	204	204					4																	89189962		2203	4300	6503	SO:0001589	frameshift_variant	0			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	25415	protein-coding gene	gene with protein product	"PP2C-type mitochondrial phosphoprotein phosphatase", "protein phosphatase 2C kappa", "branched-chain &#945;-ketoacid dehydrogenase phosphatase"	611065	"protein phosphatase 1K (PP2C domain containing)"			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.638delT	4.37:g.89189962delA	ENSP00000477341:p.Leu213fs		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.L213fs	ENST00000608933.1	37	c.638	CCDS3629.1	4																																																																																			PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.448	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4		0	64	0	A	NM_152542		89189962	-1	tier1		no_errors	ENST00000608933	ensembl	human	known	74_37	frame_shift_del	33.73	55	28	DEL	1.000	-	-	89189962	A	-	89189962	7	5	58	1	0	1	0	1	0	0	0	0	12385	131	5	0	496	0	PPM1K	4	89189962	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	518	89189962	101964314	601	14984											
FAM13A	10144	genome.wustl.edu	37	chr4	89708944	89708946	+	In_Frame_Del	DEL	GGC	GGC	-																															ttcatcctgctccttggactGgcggcggcgctgtctggcag																								rs544975687		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:89708944_89708946delGGC	ENST00000264344.5	-	10	1436_1438	c.1229_1231delGCC	c.(1228-1233)cgccag>cag	p.R410del	FAM13A_ENST00000508369.1_In_Frame_Del_p.R84del|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000503556.1_In_Frame_Del_p.R70del|FAM13A_ENST00000513837.1_In_Frame_Del_p.R56del|FAM13A_ENST00000395002.2_In_Frame_Del_p.R84del	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	410					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCCTTGGACTGGCGGCGGCGCTG	0.438																																																	0																																										SO:0001651	inframe_deletion	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1229_1231delGCC	4.37:g.89708950_89708952delGGC	ENSP00000264344:p.Arg410del		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	In_Frame_Del	DEL	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R410in_frame_del	ENST00000264344.5	37	c.1231_1229	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.438	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1		0	45	0	GGC			89708946	-1	tier1		no_errors	ENST00000264344	ensembl	human	known	74_37	in_frame_del	38.30	29	18	DEL	0.947:0.929:0.952	-	-	89708946	GGC	-	89708944	7	5	58	1	0	1	0	1	0	0	0	0	5471	1357	47	0	1900	0	FAM13A	4	89708944	In_Frame_Del	DEL	GGC	TCGA-L5-A4OI-01A-11D-A27G-09	518982	89708944	101445332	602	14985											
TIGD2	166815	genome.wustl.edu	37	chr4	90035292	90035292	+	Frame_Shift_Del	DEL	C	C	-																															aaagcatggaaaaaacttttCcctggcaatgaagagaattc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:90035292delC	ENST00000317005.2	+	1	1325	c.1167delC	c.(1165-1167)ttcfs	p.F389fs	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	389						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAAAACTTTTCCCTGGCAATG	0.368																																																	0													87	89	88					4																	90035292		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1167delC	4.37:g.90035292delC	ENSP00000317170:p.Phe389fs			Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.P390fs	ENST00000317005.2	37	c.1167	CCDS3633.1	4																																																																																			TIGD2	-	NULL	ENSG00000180346		0.368	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2		0	27	0	C	NM_145715		90035292	1	tier1		no_errors	ENST00000317005	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.997	-	-	90035292	C	-	90035292	7	5	58	1	0	1	0	1	0	0	0	0	15943	854	30	0	1169	0	TIGD2	4	90035292	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	326348	90035292	101118984	603	14986											
FAM190A	401145	genome.wustl.edu	37	chr4	91389480	91389480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgaagaaaagagaagaaCcagaatttcctgagccttcc	18	7	8	8	0	0	6	0	2	0	4	2	7	2	6	4	0	2	0	4	0	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:91389480C>T	ENST00000509176.1	+	5	1987	c.1699C>T	c.(1699-1701)Cca>Tca	p.P567S	CCSER1_ENST00000333691.8_Missense_Mutation_p.P567S|CCSER1_ENST00000432775.2_Missense_Mutation_p.P567S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	567																	AAGAGAAGAACCAGAATTTCC	0.363																																																	0													74	72	72					4																	91389480		1825	4074	5899	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1699C>T	4.37:g.91389480C>T	ENSP00000425040:p.Pro567Ser		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.P567S	ENST00000509176.1	37	c.1699	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117964	0.20877	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.41065	1.54;1.01;1.54	4.63	2.83	0.33086	.	1.304800	0.04929	N	0.456500	T	0.31702	0.0805	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.23583	-1.0184	10	0.39692	T	0.17	0.8754	8.2232	0.31554	0.0:0.7523:0.1579:0.0897	.	567;567	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	S	567	ENSP00000425040:P567S;ENSP00000389283:P567S;ENSP00000329482:P567S	ENSP00000329482:P567S	P	+	1	0	FAM190A	91608503	0.001000	0.12720	0.092000	0.20876	0.969000	0.65631	0.149000	0.16243	0.598000	0.29829	0.467000	0.42956	CCA	CCSER1	-	NULL	ENSG00000184305		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0	61	0	C	NM_001145065		91389480	1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	46.91	43	38	SNP	0.263	T	T	91389480	C	T	91389480	3	4	58	1	0	0	0	0	1	0	0	0	5540	507	18	3	1713	3	FAM190A	4	91389480	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1354188	91389480	99764796	604	14987											
ADH7	131	genome.wustl.edu	37	chr4	100334325	100334325	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacgtcaggaccgttcGaatgctgaaatgtaaaatga	16	9	9	7	3	2	2	2	2	0	0	3	4	2	3	1	1	2	3	1	1	6	2	rs533257508		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:100334325G>T	ENST00000209665.4	-	9	1381	c.1141C>A	c.(1141-1143)Cga>Aga	p.R381R	ADH7_ENST00000437033.2_Silent_p.R369R|ADH7_ENST00000476959.1_Silent_p.R389R|ADH7_ENST00000482593.1_Silent_p.R312R	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	381					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		AGGACCGTTCGAATGCTGAAA	0.373																																																	0													142	134	137					4																	100334325		2203	4300	6503	SO:0001819	synonymous_variant	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.1141C>A	4.37:g.100334325G>T			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.R381	ENST00000209665.4	37	c.1141	CCDS34034.1	4																																																																																			ADH7	-	superfamily_GroES-like	ENSG00000196344		0.373	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding			0	55	0	G	NM_000673		100334325	-1			no_errors	ENST00000209665	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.078	T	T	100334325	G	T	100334325	2	4	58	1	0	0	0	0	0	0	0	1	313	1066	37	2		2	ADH7	4	100334325	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8944845	100334325	90819951	605	14988											
NFKB1	4790	genome.wustl.edu	37	chr4	103533682	103533682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaactgggctactctggcGcagaaattaggtctggggat	12	9	13	7	1	2	1	0	0	2	1	2	2	2	2	0	5	2	2	0	5	5	2	rs568273802	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:103533682G>A	ENST00000505458.1	+	22	2785	c.2508G>A	c.(2506-2508)gcG>gcA	p.A836A	NFKB1_ENST00000600343.1_Silent_p.A656A|NFKB1_ENST00000226574.4_Silent_p.A837A|NFKB1_ENST00000394820.4_Silent_p.A836A			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	836	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CTACTCTGGCGCAGAAATTAG	0.448													G|||	2	0.000399361	0.0015	0	5008	,	,		20765	0		0	False		,,,				2504	0																0													81	82	82					4																	103533682		2203	4300	6503	SO:0001819	synonymous_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2508G>A	4.37:g.103533682G>A			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.A837	ENST00000505458.1	37	c.2511	CCDS54783.1	4																																																																																			NFKB1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain	ENSG00000109320		0.448	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-	0	52	0	G			103533682	1	tier1	-	no_errors	ENST00000226574	ensembl	human	known	74_37	silent	36.99	46	27	SNP	1.000	A	A	103533682	G	A	103533682	2	1	58	1	0	0	0	0	0	0	0	1	10414	1074	38	1		1	NFKB1	4	103533682	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3199357	103533682	87620594	606	14989											
BDH2	56898	genome.wustl.edu	37	chr4	104016363	104016363	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgagttgcttacccgGgtacttttccagttcctgaa	6	14	10	11	1	0	2	0	2	0	0	2	2	2	2	3	1	4	6	3	1	3	6	rs200156996		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:104016363G>T	ENST00000296424.4	-	3	268	c.148C>A	c.(148-150)Ccg>Acg	p.P50T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	50					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TGCTTACCCGGGTACTTTTCC	0.418																																																	0													116	106	110					4																	104016363		2203	4300	6503	SO:0001583	missense	0			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.148C>A	4.37:g.104016363G>T	ENSP00000296424:p.Pro50Thr		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.P50T	ENST00000296424.4	37	c.148	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770703	0.69992	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;T;D	0.86865	1.09;0.76;-2.18	4.85	3.95	0.45737	NAD(P)-binding domain (1);	0.766837	0.12767	N	0.440887	T	0.72244	0.3436	N	0.05031	-0.125	0.31530	N	0.661282	B	0.06786	0.001	B	0.08055	0.003	T	0.67317	-0.5701	10	0.23891	T	0.37	.	9.9994	0.41920	0.0:0.1462:0.7037:0.1501	.	50	Q9BUT1	BDH2_HUMAN	T	50	ENSP00000296424:P50T;ENSP00000427442:P50T;ENSP00000422891:P50T	ENSP00000296424:P50T	P	-	1	0	BDH2	104235812	0.981000	0.34729	0.932000	0.37286	0.877000	0.50540	0.727000	0.25999	2.397000	0.81536	0.563000	0.77884	CCG	BDH2	-	pfam_DH_sc/Rdtase_SDR	ENSG00000164039		0.418	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2	-	0	70	0	G	NM_020139		104016363	-1	tier1	-	no_errors	ENST00000296424	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.698	T	T	104016363	G	T	104016363	3	4	58	1	0	0	0	0	1	0	0	0	1392	1232	43	3	621	3	BDH2	4	104016363	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	482681	104016363	87137913	607	14990											
TACR3	6870	genome.wustl.edu	37	chr4	104640371	104640371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcggcagtagttggcGccaaagtaccactcgctatg	10	8	13	10	3	0	0	0	0	0	0	1	1	0	1	2	3	2	5	2	3	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:104640371G>A	ENST00000304883.2	-	1	602	c.462C>T	c.(460-462)ggC>ggT	p.G154G		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	154					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGTAGTTGGCGCCAAAGTACC	0.537																																																	0													90	84	86					4																	104640371		2203	4300	6503	SO:0001819	synonymous_variant	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.462C>T	4.37:g.104640371G>A			Q0P510	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.G154	ENST00000304883.2	37	c.462	CCDS3664.1	4																																																																																			TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000169836		0.537	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	-	0	53	0	G	NM_001059		104640371	-1	tier1	-	no_errors	ENST00000304883	ensembl	human	known	74_37	silent	48.72	20	19	SNP	0.170	A	A	104640371	G	A	104640371	2	1	58	1	0	0	0	0	0	0	0	1	15554	1074	38	1		1	TACR3	4	104640371	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	624008	104640371	86513905	608	14991											
CYP2U1	113612	genome.wustl.edu	37	chr4	108866275	108866275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaaatgcaaaagcacGgagaagaccccttctgccct	15	5	9	12	1	1	3	0	0	1	3	1	4	1	3	3	1	4	3	3	1	5	1	rs539068584		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:108866275G>A	ENST00000332884.6	+	2	915	c.640G>A	c.(640-642)Gga>Aga	p.G214R	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.G5R	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	214					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GCAAAAGCACGGAGAAGACCC	0.438																																																	0													129	126	127					4																	108866275		2203	4300	6503	SO:0001583	missense	0			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"Cytochrome P450s"	20582	protein-coding gene	gene with protein product	"spastic paraplegia 49"	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.640G>A	4.37:g.108866275G>A	ENSP00000333212:p.Gly214Arg		B2RMV7|Q96EQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.G214R	ENST00000332884.6	37	c.640	CCDS34047.1	4	.	.	.	.	.	.	.	.	.	.	g	19.06	3.754539	0.69648	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79352	-1.26;-1.26	5.63	4.79	0.61399	.	0.049053	0.85682	N	0.000000	T	0.70150	0.3191	L	0.54965	1.715	0.48571	D	0.999675	P	0.38535	0.635	B	0.30855	0.121	T	0.69514	-0.5125	10	0.33141	T	0.24	.	14.4885	0.67634	0.0707:0.0:0.9293:0.0	.	214	Q7Z449	CP2U1_HUMAN	R	214;171;5	ENSP00000333212:G214R;ENSP00000423667:G5R	ENSP00000333212:G214R	G	+	1	0	CYP2U1	109085724	1.000000	0.71417	0.207000	0.23584	0.675000	0.39556	6.398000	0.73244	1.399000	0.46721	-0.119000	0.15052	GGA	CYP2U1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000155016		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	-	0	54	0	G	NM_183075		108866275	1	tier1	-	no_errors	ENST00000332884	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.996	A	A	108866275	G	A	108866275	3	1	58	1	0	0	0	0	1	0	0	0	4184	1117	39	1	646	1	CYP2U1	4	108866275	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4225904	108866275	82288001	609	14992											
COL25A1	84570	genome.wustl.edu	37	chr4	109773420	109773420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagtccttgaggtccaGgaggtccagggggaccctaa	8	9	14	10	0	0	1	0	1	0	0	3	3	3	3	4	5	0	1	4	5	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:109773420G>T	ENST00000399132.1	-	26	1891	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	COL25A1_ENST00000399127.1_Missense_Mutation_p.P427H|COL25A1_ENST00000399126.1_Missense_Mutation_p.P454H	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTGAGGTCCAGGAGGTCCAGG	0.353																																																	0													76	74	75					4																	109773420		1823	4080	5903	SO:0001583	missense	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1361C>A	4.37:g.109773420G>T	ENSP00000382083:p.Pro454His			Missense_Mutation	SNP	pfam_Collagen	p.P454H	ENST00000399132.1	37	c.1361	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979929	0.53827	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.96967	-3.19;-4.19;-3.19	5.67	5.67	0.87782	.	0.051361	0.85682	D	0.000000	D	0.98378	0.9461	M	0.86864	2.845	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98635	1.0673	9	.	.	.	-5.1748	19.3463	0.94363	0.0:0.0:1.0:0.0	.	454;454	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	H	454;456;435;427;454;384	ENSP00000382083:P454H;ENSP00000382078:P427H;ENSP00000382077:P454H	.	P	-	2	0	COL25A1	109992869	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.436000	0.80404	2.659000	0.90383	0.650000	0.86243	CCT	COL25A1	-	pfam_Collagen	ENSG00000188517		0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	-	0	55	0	G	NM_032518		109773420	-1	tier1	-	no_errors	ENST00000399132	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	109773420	G	T	109773420	3	4	58	1	0	0	0	0	1	0	0	0	3691	1000	35	3	739	3	COL25A1	4	109773420	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	907145	109773420	81380856	610	14993											
SEC24B	10427	genome.wustl.edu	37	chr4	110452575	110452575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtacaagcacacggctggAtgatcgtgtatatgccatgt	10	10	13	8	2	0	1	0	1	0	0	1	2	0	2	1	3	3	4	1	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:110452575A>G	ENST00000265175.5	+	20	3342	c.3287A>G	c.(3286-3288)gAt>gGt	p.D1096G	SEC24B_ENST00000504968.2_Missense_Mutation_p.D1126G|SEC24B_ENST00000399100.2_Missense_Mutation_p.D1061G	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1096					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACACGGCTGGATGATCGTGTA	0.348																																																	0													113	108	110					4																	110452575		1884	4128	6012	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3287A>G	4.37:g.110452575A>G	ENSP00000265175:p.Asp1096Gly		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.D1096G	ENST00000265175.5	37	c.3287	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	27.9	4.874285	0.91664	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.97752	-4.52;-4.52;-4.52	5.48	5.48	0.80851	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;1.0;0.998;1.0;1.0	D	0.99293	1.0899	10	0.87932	D	0	-26.2417	15.5711	0.76337	1.0:0.0:0.0:0.0	.	1010;695;1126;1061;1096	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	G	1126;1061;1096	ENSP00000428564:D1126G;ENSP00000382051:D1061G;ENSP00000265175:D1096G	ENSP00000265175:D1096G	D	+	2	0	SEC24B	110672024	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.233000	0.95337	2.085000	0.62840	0.528000	0.53228	GAT	SEC24B	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom	ENSG00000138802		0.348	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0	60	0	A			110452575	1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	G	G	110452575	A	G	110452575	3	3	58	1	0	0	0	0	1	0	0	0	14040	333	12	4	3365	4	SEC24B	4	110452575	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	679155	110452575	80701701	611	14994											
NEUROG2	63973	genome.wustl.edu	37	chr4	113435994	113435994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttggtgcaactccacGtggaggcgggcgaggggctg	5	7	20	9	3	0	0	0	0	0	0	1	2	1	1	1	7	2	4	1	7	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:113435994G>A	ENST00000313341.3	-	2	964	c.638C>T	c.(637-639)aCg>aTg	p.T213M	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	213	Ser-rich.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GCAACTCCACGTGGAGGCGGG	0.711																																																	0													26	29	28					4																	113435994		2202	4298	6500	SO:0001583	missense	0			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"Basic helix-loop-helix proteins"	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.638C>T	4.37:g.113435994G>A	ENSP00000317333:p.Thr213Met		Q8N416	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T213M	ENST00000313341.3	37	c.638	CCDS3698.1	4	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261247	0.59431	.	.	ENSG00000178403	ENST00000313341	D	0.91068	-2.78	4.07	4.07	0.47477	.	0.323774	0.21325	N	0.076384	D	0.88548	0.6466	N	0.19112	0.55	0.29973	N	0.818417	D	0.76494	0.999	P	0.55508	0.777	D	0.85357	0.1105	10	0.44086	T	0.13	-11.1289	13.8184	0.63306	0.0:0.0:1.0:0.0	.	213	Q9H2A3	NGN2_HUMAN	M	213	ENSP00000317333:T213M	ENSP00000317333:T213M	T	-	2	0	NEUROG2	113655443	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.471000	0.53107	2.097000	0.63578	0.655000	0.94253	ACG	NEUROG2	-	NULL	ENSG00000178403		0.711	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG2	HGNC	protein_coding	OTTHUMT00000256414.1	-	0	43	0	G	NM_024019		113435994	-1	tier1	-	no_errors	ENST00000313341	ensembl	human	known	74_37	missense	52.38	20	22	SNP	1.000	A	A	113435994	G	A	113435994	3	1	58	1	0	0	0	0	1	0	0	0	10392	1145	40	1	184	1	NEUROG2	4	113435994	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2983419	113435994	77718282	612	14995											
ANK2	287	genome.wustl.edu	37	chr4	114279580	114279580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtctgtttattcagataGgggtgatgattctcccgatt	8	15	11	7	1	3	3	1	2	2	1	4	4	3	3	1	3	0	1	1	3	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:114279580G>T	ENST00000357077.4	+	38	9859	c.9806G>T	c.(9805-9807)aGg>aTg	p.R3269M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R3236M|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3269					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATTCAGATAGGGGTGATGAT	0.453																																																	0													103	100	101					4																	114279580		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9806G>T	4.37:g.114279580G>T	ENSP00000349588:p.Arg3269Met		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R3269M	ENST00000357077.4	37	c.9806	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	4.544	0.100972	0.08731	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96300	-0.31;-0.32;-3.97	5.81	0.879	0.19155	.	0.511354	0.17884	N	0.158769	D	0.95066	0.8402	L	0.56769	1.78	0.09310	N	1	P;B	0.43169	0.8;0.25	P;B	0.47206	0.541;0.323	D	0.89693	0.3899	10	0.66056	D	0.02	.	9.6608	0.39954	0.5113:0.0:0.4887:0.0	.	3236;3269	Q01484;Q01484-4	ANK2_HUMAN;.	M	3269;3236;279	ENSP00000349588:R3269M;ENSP00000264366:R3236M;ENSP00000422498:R279M	ENSP00000264366:R3236M	R	+	2	0	ANK2	114499029	0.934000	0.31675	0.000000	0.03702	0.117000	0.20001	1.918000	0.40006	0.037000	0.15575	-0.137000	0.14449	AGG	ANK2	-	NULL	ENSG00000145362		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	22	0	G	NM_001148		114279580	1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.002	T	T	114279580	G	T	114279580	3	4	58	1	0	0	0	0	1	0	0	0	621	1000	35	3	10021	3	ANK2	4	114279580	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	843586	114279580	76874696	613	14996											
ANK2	287	genome.wustl.edu	37	chr4	114280135	114280135	+	Frame_Shift_Del	DEL	G	G	-																															aagcactacatcttcctgcaGggggggcacgagccccacaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:114280135delG	ENST00000357077.4	+	38	10414	c.10361delG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.R3421fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3454					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTCCTGCAGGGGGGGCACG	0.453																																																	1	Insertion - Frameshift(1)	ovary(1)											50	56	54					4																	114280135		2197	4296	6493	SO:0001589	frameshift_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10361delG	4.37:g.114280135delG	ENSP00000349588:p.Arg3454fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G3456fs	ENST00000357077.4	37	c.10361	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	49	0	G	NM_001148		114280135	1	tier1		no_errors	ENST00000357077	ensembl	human	known	74_37	frame_shift_del	31.91	32	15	DEL	0.005	-	-	114280135	G	-	114280135	7	5	58	1	0	1	0	1	0	0	0	0	621	1000	35	0	10576	0	ANK2	4	114280135	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	555	114280135	76874141	614	14997											
NDST4	64579	genome.wustl.edu	37	chr4	115767053	115767053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctttggggacaagagatgCggctcgtcttggagcttctt	6	12	15	8	2	2	1	0	0	2	1	3	4	2	3	0	5	2	3	0	5	1	4	rs369719779		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:115767053C>T	ENST00000264363.2	-	10	2719	c.2041G>A	c.(2041-2043)Gca>Aca	p.A681T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	681	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACAAGAGATGCGGCTCGTCTT	0.443																																																	0													126	117	120					4																	115767053		2203	4300	6503	SO:0001583	missense	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2041G>A	4.37:g.115767053C>T	ENSP00000264363:p.Ala681Thr		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A681T	ENST00000264363.2	37	c.2041	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967488	0.53507	.	.	ENSG00000138653	ENST00000264363	T	0.56103	0.48	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.66439	2.03	0.58432	D	0.999999	B	0.33171	0.4	B	0.31016	0.123	T	0.50346	-0.8839	10	0.22109	T	0.4	.	19.6454	0.95775	0.0:1.0:0.0:0.0	.	681	Q9H3R1	NDST4_HUMAN	T	681	ENSP00000264363:A681T	ENSP00000264363:A681T	A	-	1	0	NDST4	115986502	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.396000	0.79891	2.629000	0.89072	0.655000	0.94253	GCA	NDST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000138653		0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0	54	0	C	NM_022569		115767053	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	35.82	43	24	SNP	1.000	T	T	115767053	C	T	115767053	3	4	58	1	0	0	0	0	1	0	0	0	10297	768	27	1	597	1	NDST4	4	115767053	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1486918	115767053	75387223	615	14998											
TRAM1L1	133022	genome.wustl.edu	37	chr4	118005607	118005607	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaagccagagagtaattaAgttccatgttacgtaggctt	12	12	10	7	1	0	2	0	1	0	1	1	3	1	2	2	1	2	5	2	1	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:118005607A>C	ENST00000310754.4	-	1	1129	c.943T>G	c.(943-945)Tta>Gta	p.L315V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	315	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTAATTAAGTTCCATGTT	0.408																																																	0													138	135	136					4																	118005607		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.943T>G	4.37:g.118005607A>C	ENSP00000309402:p.Leu315Val		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.L315V	ENST00000310754.4	37	c.943	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	6.876	0.531108	0.13127	.	.	ENSG00000174599	ENST00000310754	T	0.44482	0.92	3.59	2.4	0.29515	TRAM/LAG1/CLN8 homology domain (2);	0.228556	0.44902	D	0.000401	T	0.35248	0.0925	L	0.33485	1.01	0.09310	N	0.999999	B	0.32862	0.387	B	0.42959	0.403	T	0.27157	-1.0082	10	0.62326	D	0.03	-24.3027	5.7828	0.18316	0.8779:0.0:0.1221:0.0	.	315	Q8N609	TR1L1_HUMAN	V	315	ENSP00000309402:L315V	ENSP00000309402:L315V	L	-	1	2	TRAM1L1	118225055	1.000000	0.71417	0.338000	0.25549	0.057000	0.15508	1.721000	0.38032	0.732000	0.32470	-0.297000	0.09499	TTA	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.408	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0	81	0	A	NM_152402		118005607	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	38.46	56	35	SNP	0.297	C	C	118005607	A	C	118005607	3	2	58	1	0	0	0	0	1	0	0	0	16500	69	3	4	170	4	TRAM1L1	4	118005607	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2238554	118005607	73148669	616	14999											
SEC24D	9871	genome.wustl.edu	37	chr4	119736808	119736808	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggaaggctgtggaggTcgtggaggagtctgcaatga	12	8	17	4	1	1	1	0	1	1	0	2	5	1	5	0	6	1	2	0	6	4	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:119736808T>C	ENST00000280551.6	-	5	709	c.471A>G	c.(469-471)cgA>cgG	p.R157R	SEC24D_ENST00000379735.5_Silent_p.R157R|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	157	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGTGGAGGTCGTGGAGGAG	0.572																																																	0													219	197	205					4																	119736808		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.471A>G	4.37:g.119736808T>C			Q8IYI7	Missense_Mutation	SNP	NULL	p.D193G	ENST00000280551.6	37	c.578	CCDS3710.1	4																																																																																			SEC24D	-	NULL	ENSG00000150961		0.572	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	-	0	96	0	T			119736808	-1	tier1	-	no_errors	ENST00000506622	ensembl	human	known	74_37	missense	34.38	63	33	SNP	0.000	C	C	119736808	T	C	119736808	2	2	58	1	0	0	0	0	0	0	0	1	14042	1654	58	4		4	SEC24D	4	119736808	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1731201	119736808	71417468	617	15000											
SYNPO2	171024	genome.wustl.edu	37	chr4	119951528	119951528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgatggcctgagaaccaCgacttcttaccaaagaaagg	14	6	10	11	2	1	2	0	1	1	2	1	6	1	2	4	2	2	0	4	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:119951528C>T	ENST00000429713.2	+	4	1780	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	SYNPO2_ENST00000307142.4_Missense_Mutation_p.T533M|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T533M	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	533						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.T533M(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGAGAACCACGACTTCTTAC	0.507																																																	2	Substitution - Missense(2)	prostate(2)											68	60	63					4																	119951528		2203	4300	6503	SO:0001583	missense	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1598C>T	4.37:g.119951528C>T	ENSP00000395143:p.Thr533Met		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T533M	ENST00000429713.2	37	c.1598	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019860	0.02078	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.44083	0.93;0.93;0.93	5.38	-3.77	0.04346	.	1.860810	0.02473	N	0.087752	T	0.21550	0.0519	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.13594	0.003;0.005;0.008;0.003	B;B;B;B	0.11329	0.002;0.006;0.002;0.002	T	0.22487	-1.0215	9	.	.	.	0.2208	12.6726	0.56876	0.0:0.5212:0.0:0.4788	.	533;533;533;533	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	M	533	ENSP00000306015:T533M;ENSP00000395143:T533M;ENSP00000390965:T533M	.	T	+	2	0	SYNPO2	120170976	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.306000	0.08178	-0.972000	0.03559	-1.306000	0.01317	ACG	SYNPO2	-	NULL	ENSG00000172403		0.507	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	-	0	28	0	C			119951528	1	tier1	-	no_errors	ENST00000307142	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.000	T	T	119951528	C	T	119951528	3	4	58	1	0	0	0	0	1	0	0	0	15504	536	19	1	1612	1	SYNPO2	4	119951528	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	214720	119951528	71202748	618	15001											
MAD2L1	4085	genome.wustl.edu	37	chr4	120982060	120982060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtggcagaaatgtcacCgtagctgtgatctgtctgat	11	11	11	8	1	3	3	1	2	2	1	3	3	3	3	1	1	2	3	1	1	3	1	rs529786403		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:120982060C>T	ENST00000296509.6	-	4	753	c.414G>A	c.(412-414)acG>acA	p.T138T		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	138	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GAAATGTCACCGTAGCTGTGA	0.368													T|||	1	0.000199681	8e-04	0	5008	,	,		16844	0		0	False		,,,				2504	0																0													58	58	58					4																	120982060		2203	4300	6503	SO:0001819	synonymous_variant	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.414G>A	4.37:g.120982060C>T			Q53F56|Q548X9|Q6IRW7|Q8IZX3	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.T138	ENST00000296509.6	37	c.414	CCDS3715.1	4																																																																																			MAD2L1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000164109		0.368	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	HGNC	protein_coding	OTTHUMT00000256525.2	-	0	51	0	C			120982060	-1	tier1	-	no_errors	ENST00000296509	ensembl	human	known	74_37	silent	36.67	38	22	SNP	0.012	T	T	120982060	C	T	120982060	2	4	58	1	0	0	0	0	0	0	0	1	9184	639	23	1		1	MAD2L1	4	120982060	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1030532	120982060	70172216	619	15002											
QRFPR	84109	genome.wustl.edu	37	chr4	122250816	122250816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatccaataatttgcaCgatagcaaaaatcatcttga	18	10	6	7	1	2	1	1	1	1	0	3	3	3	2	1	1	2	2	1	1	7	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:122250816C>T	ENST00000394427.2	-	6	1360	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	317					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATAATTTGCACGATAGCAAAA	0.279																																																	0													35	36	36					4																	122250816		2202	4298	6500	SO:0001583	missense	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.949G>A	4.37:g.122250816C>T	ENSP00000377948:p.Val317Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.V317M	ENST00000394427.2	37	c.949	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471314	0.84533	.	.	ENSG00000186867	ENST00000394427	T	0.72505	-0.66	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.82896	-0.0230	10	0.48119	T	0.1	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	317	Q96P65	QRFPR_HUMAN	M	317	ENSP00000377948:V317M	ENSP00000377948:V317M	V	-	1	0	QRFPR	122470266	1.000000	0.71417	0.943000	0.38184	0.946000	0.59487	5.898000	0.69838	2.569000	0.86673	0.491000	0.48974	GTG	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186867		0.279	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0	31	0	C	NM_198179		122250816	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	T	T	122250816	C	T	122250816	3	4	58	1	0	0	0	0	1	0	0	0	12923	536	19	1	350	1	QRFPR	4	122250816	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1268756	122250816	68903460	620	15003											
QRFPR	84109	genome.wustl.edu	37	chr4	122254190	122254190	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagatgtgttccttttCatataggaagtcatatttga	11	15	9	6	0	2	2	2	1	0	1	3	3	3	3	1	1	1	3	1	1	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:122254190C>A	ENST00000394427.2	-	4	994	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	QRFPR_ENST00000334383.5_Nonsense_Mutation_p.E195*	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	195					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGTTCCTTTTCATATAGGAAG	0.388																																																	0													83	82	82					4																	122254190		2203	4300	6503	SO:0001587	stop_gained	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.583G>T	4.37:g.122254190C>A	ENSP00000377948:p.Glu195*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.E195*	ENST00000394427.2	37	c.583	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.448561	0.98815	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	.	.	.	6.06	6.06	0.98353	.	0.047073	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	13.778	0.63066	0.0:0.9304:0.0:0.0696	.	.	.	.	X	195	.	ENSP00000335610:E195X	E	-	1	0	QRFPR	122473640	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.769000	0.85360	2.871000	0.98454	0.655000	0.94253	GAA	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186867		0.388	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0	36	0	C	NM_198179		122254190	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	nonsense	42.86	24	18	SNP	1.000	A	A	122254190	C	A	122254190	4	1	58	1	0	0	0	0	0	1	0	0	12923	835	29	3	724	3	QRFPR	4	122254190	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3374	122254190	68900086	621	15004											
TRPC3	7222	genome.wustl.edu	37	chr4	122854106	122854106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggtgccgcggtcatTgaacatgaaggccgggcccc	7	6	16	12	3	1	2	1	2	0	0	1	3	1	2	4	5	2	1	4	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:122854106T>C	ENST00000379645.3	-	2	380	c.307A>G	c.(307-309)Aat>Gat	p.N103D	TRPC3_ENST00000513531.1_Missense_Mutation_p.N30D|TRPC3_ENST00000264811.5_Missense_Mutation_p.N30D	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	18					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCGCGGTCATTGAACATGAAG	0.642																																																	0													31	33	32					4																	122854106		2203	4299	6502	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.307A>G	4.37:g.122854106T>C	ENSP00000368966:p.Asn103Asp		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.N103D	ENST00000379645.3	37	c.307	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459728	0.43736	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;D	0.86562	-0.77;-0.99;-0.87;-2.14	5.8	1.9	0.25705	.	0.288882	0.36303	N	0.002679	T	0.76564	0.4005	N	0.19112	0.55	0.36593	D	0.87422	B;B	0.22480	0.07;0.045	B;B	0.30855	0.083;0.121	T	0.66638	-0.5873	10	0.33141	T	0.24	-18.58	7.6204	0.28181	0.0:0.0696:0.267:0.6634	.	30;103	E9PCJ9;Q5G1L5	.;.	D	30;103;30;30	ENSP00000264811:N30D;ENSP00000368966:N103D;ENSP00000426899:N30D;ENSP00000422214:N30D	ENSP00000264811:N30D	N	-	1	0	TRPC3	123073556	1.000000	0.71417	0.789000	0.31954	0.521000	0.34408	4.025000	0.57225	0.097000	0.17492	-0.321000	0.08615	AAT	TRPC3	-	tigrfam_TRP_channel	ENSG00000138741		0.642	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0	40	0	T	NM_003305		122854106	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	C	C	122854106	T	C	122854106	3	2	58	1	0	0	0	0	1	0	0	0	16627	1812	63	4	2502	4	TRPC3	4	122854106	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	599916	122854106	68300170	622	15005											
ADAD1	132612	genome.wustl.edu	37	chr4	123333870	123333870	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataagcagtatgtcctcAagtgacaaattgaccagatg	16	9	9	7	0	1	4	1	2	0	2	2	4	2	4	2	0	1	2	2	0	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:123333870A>G	ENST00000296513.2	+	10	1340	c.1155A>G	c.(1153-1155)tcA>tcG	p.S385S	ADAD1_ENST00000388725.2_Silent_p.S367S|ADAD1_ENST00000388724.2_Silent_p.S374S	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	385	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTATGTCCTCAAGTGACAAAT	0.408																																																	0													237	223	228					4																	123333870		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1155A>G	4.37:g.123333870A>G			A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.S385	ENST00000296513.2	37	c.1155	CCDS34058.1	4																																																																																			ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.408	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0	45	0	A	NM_139243		123333870	1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	silent	43.40	30	23	SNP	0.965	G	G	123333870	A	G	123333870	2	3	58	1	0	0	0	0	0	0	0	1	231	117	5	4		4	ADAD1	4	123333870	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	479764	123333870	67820406	623	15006											
ADAD1	132612	genome.wustl.edu	37	chr4	123342478	123342478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggctgcaatgttaagtcGgtttaacctgcttgccaaag	11	12	10	8	1	0	0	0	0	0	0	1	0	0	0	2	2	4	5	2	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:123342478G>A	ENST00000296513.2	+	12	1735	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	ADAD1_ENST00000388725.2_Missense_Mutation_p.R499Q|ADAD1_ENST00000388724.2_Missense_Mutation_p.R506Q	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	517	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGTTAAGTCGGTTTAACCTG	0.343																																																	0													89	90	89					4																	123342478		2203	4300	6503	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1550G>A	4.37:g.123342478G>A	ENSP00000296513:p.Arg517Gln		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R517Q	ENST00000296513.2	37	c.1550	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927113	0.92389	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.94046	-3.34;-3.34;-3.34	4.93	4.93	0.64822	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	M	0.79343	2.45	0.58432	D	0.999998	D;D	0.89917	0.971;1.0	P;D	0.97110	0.669;1.0	D	0.95318	0.8418	10	0.27785	T	0.31	-10.5143	17.7553	0.88446	0.0:0.0:1.0:0.0	.	506;517	Q96M93-2;Q96M93	.;ADAD1_HUMAN	Q	517;506;499	ENSP00000296513:R517Q;ENSP00000373376:R506Q;ENSP00000373377:R499Q	ENSP00000296513:R517Q	R	+	2	0	ADAD1	123561928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.885000	0.87282	2.277000	0.76020	0.650000	0.86243	CGG	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.343	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0	49	0	G	NM_139243		123342478	1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	A	A	123342478	G	A	123342478	3	1	58	1	0	0	0	0	1	0	0	0	231	1116	39	1	1588	1	ADAD1	4	123342478	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8608	123342478	67811798	624	15007											
ANKRD50	57182	genome.wustl.edu	37	chr4	125593559	125593559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgtgcagttgatttaaCatctctgcagtttcttttgt	8	20	7	6	0	2	1	0	1	2	0	3	1	2	1	0	0	3	4	0	0	2	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:125593559C>T	ENST00000504087.1	-	4	1910	c.873G>A	c.(871-873)atG>atA	p.M291I	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M112I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	291										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTTGATTTAACATCTCTGCAG	0.363																																																	0													71	67	69					4																	125593559		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.873G>A	4.37:g.125593559C>T	ENSP00000425658:p.Met291Ile		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M291I	ENST00000504087.1	37	c.873	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538461	0.27475	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64618	-0.11;-0.09	5.43	4.58	0.56647	.	0.043963	0.85682	D	0.000000	T	0.55529	0.1926	L	0.49350	1.555	0.49582	D	0.9998	B	0.30824	0.296	B	0.26094	0.066	T	0.53851	-0.8380	10	0.30078	T	0.28	.	15.8916	0.79303	0.1359:0.8641:0.0:0.0	.	291	Q9ULJ7	ANR50_HUMAN	I	291;112	ENSP00000425658:M291I;ENSP00000425355:M112I	ENSP00000425658:M291I	M	-	3	0	ANKRD50	125813009	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	3.559000	0.53756	1.498000	0.48600	0.650000	0.86243	ATG	ANKRD50	-	NULL	ENSG00000151458		0.363	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0	46	0	C	NM_020337		125593559	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	22.73	34	10	SNP	1.000	T	T	125593559	C	T	125593559	3	4	58	1	0	0	0	0	1	0	0	0	677	478	17	3	3420	3	ANKRD50	4	125593559	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2251081	125593559	65560717	625	15008											
FAT4	79633	genome.wustl.edu	37	chr4	126408620	126408620	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttctaattgggaaaaatGgaacagcaacagtattgtct	14	13	8	6	0	2	0	0	0	2	0	2	2	2	2	0	2	3	2	0	2	6	6	rs142123629		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:126408620G>T	ENST00000394329.3	+	16	12950	c.12937G>T	c.(12937-12939)Gga>Tga	p.G4313*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G2554*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4313	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4313R(1)|p.G4256R(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGGAAAAATGGAACAGCAAC	0.413																																																	2	Substitution - Missense(2)	skin(2)											85	86	85					4																	126408620		2203	4300	6503	SO:0001587	stop_gained	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12937G>T	4.37:g.126408620G>T	ENSP00000377862:p.Gly4313*		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G4313*	ENST00000394329.3	37	c.12937	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	53	21.131654	0.99937	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.26	3.43	0.39272	.	0.000000	0.33938	U	0.004417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.747	0.34591	0.0786:0.0:0.7713:0.1501	.	.	.	.	X	4313;2554	.	ENSP00000335169:G2554X	G	+	1	0	FAT4	126628070	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	2.176000	0.42500	1.217000	0.43442	0.650000	0.86243	GGA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	43	0	G	NM_024582		126408620	1			no_errors	ENST00000394329	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	126408620	G	T	126408620	4	4	58	1	0	0	0	0	0	1	0	0	5714	1349	47	3	12999	3	FAT4	4	126408620	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	815061	126408620	64745656	626	15009											
MFSD8	256471	genome.wustl.edu	37	chr4	128854191	128854191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaaaacagaacattgatgGccacaacagcaacctggtca	18	5	7	11	0	1	2	1	1	0	1	1	2	1	2	2	2	5	1	2	2	6	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:128854191G>T	ENST00000296468.3	-	9	939	c.812C>A	c.(811-813)gCc>gAc	p.A271D	MFSD8_ENST00000513559.1_Missense_Mutation_p.A226D|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Missense_Mutation_p.P178T	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	271					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AACATTGATGGCCACAACAGC	0.343																																																	0													164	163	164					4																	128854191		2203	4300	6503	SO:0001583	missense	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.812C>A	4.37:g.128854191G>T	ENSP00000296468:p.Ala271Asp		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A271D	ENST00000296468.3	37	c.812	CCDS3736.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.67|12.67	2.006845|2.006845	0.35415|0.35415	.|.	.|.	ENSG00000164073|ENSG00000164073	ENST00000296468;ENST00000513559|ENST00000541133	T;T|T	0.59502|0.79141	0.26;0.26|-1.24	4.55|4.55	3.71|3.71	0.42584|0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.369557|.	0.30820|.	N|.	0.008816|.	T|T	0.70482|0.70482	0.3229|0.3229	L|L	0.53249|0.53249	1.67|1.67	0.18873|0.18873	N|N	0.999987|0.999987	P;P|B	0.49307|0.20887	0.71;0.922|0.049	B;B|B	0.43575|0.19666	0.235;0.424|0.026	T|T	0.53732|0.53732	-0.8397|-0.8397	10|9	0.36615|0.08837	T|T	0.2|0.75	-0.2417|-0.2417	12.7449|12.7449	0.57276|0.57276	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	233;271|178	B7Z280;Q8NHS3|B7Z2B2	.;MFSD8_HUMAN|.	D|T	271;226|178	ENSP00000296468:A271D;ENSP00000425000:A226D|ENSP00000439616:P178T	ENSP00000296468:A271D|ENSP00000439616:P178T	A|P	-|-	2|1	0|0	MFSD8|MFSD8	129073641|129073641	0.996000|0.996000	0.38824|0.38824	0.951000|0.951000	0.38953|0.38953	0.142000|0.142000	0.21351|0.21351	4.676000|4.676000	0.61627|0.61627	1.132000|1.132000	0.42129|0.42129	0.585000|0.585000	0.79938|0.79938	GCC|CCA	MFSD8	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.343	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	-	0	58	0	G	NM_152778		128854191	-1	tier1	-	no_errors	ENST00000296468	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.608	T	T	128854191	G	T	128854191	3	4	58	1	0	0	0	0	1	0	0	0	9576	1203	42	3	764	3	MFSD8	4	128854191	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2445571	128854191	62300085	627	15010											
PHF17	79960	genome.wustl.edu	37	chr4	129752963	129752963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggattctgacgacaatgGcagtaagtcctgctttgttg	9	13	12	7	1	1	2	0	2	1	0	2	4	2	3	1	2	1	4	1	2	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:129752963G>A	ENST00000226319.6	+	2	330	c.50G>A	c.(49-51)gGc>gAc	p.G17D	PHF17_ENST00000413543.2_Missense_Mutation_p.G17D|PHF17_ENST00000452328.2_Missense_Mutation_p.G17D|PHF17_ENST00000512960.1_Missense_Mutation_p.G17D|PHF17_ENST00000511647.1_Missense_Mutation_p.G17D	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GACGACAATGGCAGTAAGTCC	0.483																																																	0													247	224	232					4																	129752963		2203	4300	6503	SO:0001583	missense	0																														ENST00000226319.6:c.50G>A	4.37:g.129752963G>A	ENSP00000226319:p.Gly17Asp			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G17D	ENST00000226319.6	37	c.50	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876791	0.33162	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000514740;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T	0.39997	1.15;1.05;1.15;1.15;1.05	4.25	4.25	0.50352	.	0.155161	0.56097	D	0.000021	T	0.23289	0.0563	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.22414	0.015;0.069;0.025	B;B;B	0.19946	0.014;0.017;0.027	T	0.06991	-1.0796	9	.	.	.	.	15.0125	0.71560	0.0:0.0:1.0:0.0	.	17;17;17	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	D	17	ENSP00000226319:G17D;ENSP00000423737:G17D;ENSP00000388015:G17D;ENSP00000425730:G17D;ENSP00000404211:G17D	.	G	+	2	0	PHF17	129972413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.193000	0.72075	2.188000	0.69820	0.561000	0.74099	GGC	PHF17	-	NULL	ENSG00000077684		0.483	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	-	0	121	0	G			129752963	1	tier1	-	no_errors	ENST00000226319	ensembl	human	known	74_37	missense	32.11	73	35	SNP	1.000	A	A	129752963	G	A	129752963	3	1	58	1	0	0	0	0	1	0	0	0	11867	1203	42	3	52	3	PHF17	4	129752963	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	898772	129752963	61401313	628	15011											
PHF17	79960	genome.wustl.edu	37	chr4	129783389	129783389	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggagagggtaatgatTgacactgacaccttatagtg	12	10	12	7	0	0	4	0	3	0	1	0	6	0	4	2	2	0	1	2	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:129783389T>C	ENST00000413543.2	+	9	1616	c.1512T>C	c.(1510-1512)atT>atC	p.I504I	PHF17_ENST00000452328.2_Intron|PHF17_ENST00000512960.1_Intron|PHF17_ENST00000511647.1_Silent_p.I504I|PHF17_ENST00000226319.6_Intron																NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGTAATGATTGACACTGACA	0.498																																																	0													36	38	37					4																	129783389		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000413543.2:c.1512T>C	4.37:g.129783389T>C				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I504	ENST00000413543.2	37	c.1512	CCDS47134.1	4																																																																																			PHF17	-	NULL	ENSG00000077684		0.498	PHF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364056.2	-	0	34	0	T			129783389	1	tier1	-	no_errors	ENST00000413543	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.990	C	C	129783389	T	C	129783389	2	2	58	1	0	0	0	0	0	0	0	1	11867	1800	63	4		4	PHF17	4	129783389	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	30426	129783389	61370887	629	15012											
PCDH10	57575	genome.wustl.edu	37	chr4	134071772	134071772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaactccttgcgcgactaCgagatcacccccaacagcta	12	6	6	17	3	1	1	1	0	0	1	2	3	2	1	4	0	5	1	4	0	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:134071772C>T	ENST00000264360.5	+	1	1303	c.477C>T	c.(475-477)taC>taT	p.Y159Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCGCGACTACGAGATCACCC	0.622																																																	0													70	68	69					4																	134071772		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.477C>T	4.37:g.134071772C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y159	ENST00000264360.5	37	c.477	CCDS34063.1	4																																																																																			PCDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	27	0	C	NM_032961		134071772	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	44.83	16	13	SNP	1.000	T	T	134071772	C	T	134071772	2	4	58	1	0	0	0	0	0	0	0	1	11546	547	19	1		1	PCDH10	4	134071772	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4288383	134071772	57082504	630	15013											
HHIP	64399	genome.wustl.edu	37	chr4	145658978	145658978	+	Frame_Shift_Del	DEL	A	A	-																															gaccgaacaagtgcctctgtAaaaaaggatatcttggtcct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:145658978delA	ENST00000296575.3	+	13	2627	c.1972delA	c.(1972-1974)aaafs	p.K659fs		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	659	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCCTCTGTAAAAAAGGATA	0.443																																																	0													154	130	138					4																	145658978		2203	4300	6503	SO:0001589	frameshift_variant	0			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1972delA	4.37:g.145658978delA	ENSP00000296575:p.Lys659fs		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Frame_Shift_Del	DEL	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.G660fs	ENST00000296575.3	37	c.1972	CCDS3762.1	4																																																																																			HHIP	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000164161		0.443	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	HGNC	protein_coding	OTTHUMT00000364887.2		0	68	0	A			145658978	1	tier1		no_errors	ENST00000296575	ensembl	human	known	74_37	frame_shift_del	41.94	36	26	DEL	1.000	-	-	145658978	A	-	145658978	7	5	58	1	0	1	0	1	0	0	0	0	7119	363	13	0	2022	0	HHIP	4	145658978	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	11587206	145658978	45495298	631	15014											
ABCE1	6059	genome.wustl.edu	37	chr4	146033434	146033434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttacctagatgtcaagcagCgtttaaaggctgctattact	11	13	9	8	1	1	1	1	0	0	1	1	1	1	1	1	1	5	5	1	1	7	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:146033434C>T	ENST00000296577.4	+	9	1269	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	252	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGTCAAGCAGCGTTTAAAGGC	0.318																																																	0													62	58	60					4																	146033434		2202	4300	6502	SO:0001583	missense	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.754C>T	4.37:g.146033434C>T	ENSP00000296577:p.Arg252Cys		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.R252C	ENST00000296577.4	37	c.754	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626299	0.87560	.	.	ENSG00000164163	ENST00000296577	D	0.84800	-1.9	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92761	0.6224	10	0.87932	D	0	-47.5903	19.8328	0.96642	0.0:1.0:0.0:0.0	.	252	P61221	ABCE1_HUMAN	C	252	ENSP00000296577:R252C	ENSP00000296577:R252C	R	+	1	0	ABCE1	146252884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.923000	0.48868	2.758000	0.94735	0.591000	0.81541	CGT	ABCE1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000164163		0.318	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	-	0	70	0	C	NM_002940		146033434	1	tier1	-	no_errors	ENST00000296577	ensembl	human	known	74_37	missense	32.58	60	29	SNP	1.000	T	T	146033434	C	T	146033434	3	4	58	1	0	0	0	0	1	0	0	0	64	768	27	1	784	1	ABCE1	4	146033434	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	374456	146033434	45120842	632	15015											
DCLK2	166614	genome.wustl.edu	37	chr4	151177234	151177234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgtcaagacagcggcagGcctgggatggagcccatctc	9	6	13	13	1	2	1	1	0	1	1	3	3	2	3	2	4	2	1	2	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:151177234G>C	ENST00000296550.7	+	16	2890	c.2136G>C	c.(2134-2136)agG>agC	p.R712S	DCLK2_ENST00000506325.1_Missense_Mutation_p.R711S|DCLK2_ENST00000302176.8_Missense_Mutation_p.R729S	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	712					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACAGCGGCAGGCCTGGGATGG	0.607																																					GBM(195;186 2215 13375 16801 37459)												0													48	42	44					4																	151177234		2203	4300	6503	SO:0001583	missense	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.2136G>C	4.37:g.151177234G>C	ENSP00000296550:p.Arg712Ser		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.R729S	ENST00000296550.7	37	c.2187	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664021	0.29604	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.67865	-0.28;-0.29;-0.28	4.51	-3.28	0.05033	Protein kinase-like domain (1);	38.283800	0.00166	U	0.000003	T	0.56906	0.2017	L	0.47716	1.5	0.23391	N	0.997777	B;B;B	0.23442	0.004;0.005;0.085	B;B;B	0.19666	0.005;0.004;0.026	T	0.34153	-0.9840	10	0.32370	T	0.25	.	6.5666	0.22515	0.5867:0.2194:0.1939:0.0	.	729;711;712	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	S	712;711;729	ENSP00000296550:R712S;ENSP00000427235:R711S;ENSP00000303887:R729S	ENSP00000296550:R712S	R	+	3	2	DCLK2	151396684	0.001000	0.12720	0.009000	0.14445	0.036000	0.12997	-0.165000	0.09968	-0.479000	0.06813	-0.378000	0.06908	AGG	DCLK2	-	superfamily_Kinase-like_dom	ENSG00000170390		0.607	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	-	0	54	0	G	NM_001040260		151177234	1	tier1	-	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	42.03	40	29	SNP	0.010	C	C	151177234	G	C	151177234	3	2	58	1	0	0	0	0	1	0	0	0	4301	1194	42	5	2198	5	DCLK2	4	151177234	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5143800	151177234	39977042	633	15016											
LRBA	987	genome.wustl.edu	37	chr4	151765309	151765309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtcctgtagaagcctGtcaagatctcttactggaga	10	12	9	10	0	2	3	1	0	1	3	5	4	4	3	3	1	2	1	3	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:151765309G>T	ENST00000357115.3	-	28	4755	c.4512C>A	c.(4510-4512)gaC>gaA	p.D1504E	LRBA_ENST00000535741.1_Missense_Mutation_p.D1504E|LRBA_ENST00000510413.1_Missense_Mutation_p.D1504E|LRBA_ENST00000507224.1_Missense_Mutation_p.D1504E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1504						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTAGAAGCCTGTCAAGATCTC	0.338																																																	0													110	110	110					4																	151765309		2203	4300	6503	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4512C>A	4.37:g.151765309G>T	ENSP00000349629:p.Asp1504Glu		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.D1504E	ENST00000357115.3	37	c.4512	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.21|10.21	1.286513|1.286513	0.23478|0.23478	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839|ENST00000509835	T;T;T;T|.	0.54866|.	0.99;1.14;0.99;0.55|.	5.48|5.48	1.76|1.76	0.24704|0.24704	.|.	0.111637|.	0.64402|.	N|.	0.000015|.	T|T	0.42810|0.42810	0.1219|0.1219	L|L	0.31157|0.31157	0.91|0.91	0.46222|0.46222	D|D	0.998939|0.998939	B;B|.	0.15141|.	0.003;0.012|.	B;B|.	0.14023|.	0.004;0.01|.	T|T	0.11591|0.11591	-1.0581|-1.0581	10|5	0.13108|.	T|.	0.6|.	.|.	8.4157|8.4157	0.32670|0.32670	0.196:0.1132:0.6908:0.0|0.196:0.1132:0.6908:0.0	.|.	1504;1504|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	E|K	1504;1504;1504;1504;81|157	ENSP00000446299:D1504E;ENSP00000421552:D1504E;ENSP00000349629:D1504E;ENSP00000422180:D1504E|.	ENSP00000349629:D1504E|.	D|T	-|-	3|2	2|0	LRBA|LRBA	151984759|151984759	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	3.315000|3.315000	0.51951|0.51951	0.364000|0.364000	0.24374|0.24374	-0.300000|-0.300000	0.09419|0.09419	GAC|ACA	LRBA	-	NULL	ENSG00000198589		0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	60	0	G			151765309	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	151765309	G	T	151765309	3	4	58	1	0	0	0	0	1	0	0	0	8966	1368	48	3	4203	3	LRBA	4	151765309	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	588075	151765309	39388967	634	15017											
SH3D19	152503	genome.wustl.edu	37	chr4	152043270	152043270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgtagaaactgtatgtaGtttttgggaaatattccaga	13	15	9	4	0	1	2	0	0	1	2	2	3	2	3	1	1	1	4	1	1	6	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:152043270G>T	ENST00000409252.2	-	20	3053	c.2346C>A	c.(2344-2346)aaC>aaA	p.N782K	SH3D19_ENST00000424281.1_Missense_Mutation_p.N723K|SH3D19_ENST00000514152.1_Missense_Mutation_p.N759K|SH3D19_ENST00000455740.1_Missense_Mutation_p.N759K|SH3D19_ENST00000427414.2_Missense_Mutation_p.N723K|SH3D19_ENST00000409598.4_Missense_Mutation_p.N759K|SH3D19_ENST00000304527.4_Missense_Mutation_p.N782K			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	782	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACTGTATGTAGTTTTTGGGAA	0.388																																																	0													135	132	133					4																	152043270		2203	4300	6503	SO:0001583	missense	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2346C>A	4.37:g.152043270G>T	ENSP00000386848:p.Asn782Lys		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.N782K	ENST00000409252.2	37	c.2346	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050260	0.36181	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.44	3.71	0.42584	Src homology-3 domain (4);	1.044420	0.07544	N	0.914383	T	0.63663	0.2530	L	0.58428	1.81	0.58432	D	0.999993	P;D;P;P	0.55800	0.611;0.973;0.597;0.922	B;P;B;P	0.53861	0.221;0.736;0.444;0.548	T	0.53173	-0.8476	10	0.87932	D	0	-2.6029	11.2756	0.49165	0.0691:0.1273:0.8036:0.0	.	782;759;723;537	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	K	759;782;759;723;723;782;759	ENSP00000387030:N759K;ENSP00000302913:N782K;ENSP00000416708:N759K;ENSP00000404542:N723K;ENSP00000415694:N723K;ENSP00000386848:N782K;ENSP00000423449:N759K	ENSP00000302913:N782K	N	-	3	2	SH3D19	152262720	1.000000	0.71417	0.958000	0.39756	0.144000	0.21451	2.772000	0.47678	0.649000	0.30751	-0.216000	0.12614	AAC	SH3D19	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000109686		0.388	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	-	0	65	0	G	NM_001009555		152043270	-1	tier1	-	no_errors	ENST00000304527	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T	T	152043270	G	T	152043270	3	4	58	1	0	0	0	0	1	0	0	0	14294	1020	36	3	30	3	SH3D19	4	152043270	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	277961	152043270	39111006	635	15018											
FBXW7	55294	genome.wustl.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:153247289G>A	ENST00000281708.4	-	10	2742	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>T	4.37:g.153247289G>A	ENSP00000281708:p.Arg505Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505C	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722220	0.68959	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	505;387;425;329	ENSP00000281708:R505C;ENSP00000296555:R387C;ENSP00000263981:R425C;ENSP00000377528:R329C	ENSP00000263981:R425C	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0	46	0	G			153247289	-1	tier1	rs149680468	no_errors	ENST00000281708	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A	A	153247289	G	A	153247289	3	1	58	1	0	0	0	0	1	0	0	0	5791	1116	39	1	622	1	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1204019	153247289	37906987	636	15019											
TIGD4	201798	genome.wustl.edu	37	chr4	153691396	153691396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatccatgccattctgttaGcttcataacacacaggcaat	12	12	5	12	0	3	0	2	0	1	0	4	0	4	0	2	1	3	3	2	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:153691396G>T	ENST00000304337.2	-	2	1581	c.761C>A	c.(760-762)gCt>gAt	p.A254D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	254	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTCTGTTAGCTTCATAACA	0.398																																																	0													136	134	134					4																	153691396		2203	4300	6503	SO:0001583	missense	0			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.761C>A	4.37:g.153691396G>T	ENSP00000355162:p.Ala254Asp		Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.A254D	ENST00000304337.2	37	c.761	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952382	0.73787	.	.	ENSG00000169989	ENST00000304337	T	0.48836	0.8	6.03	6.03	0.97812	.	0.131674	0.34725	N	0.003725	T	0.66703	0.2816	M	0.63843	1.955	0.44018	D	0.996737	D	0.69078	0.997	D	0.63703	0.917	T	0.63967	-0.6517	10	0.51188	T	0.08	-11.9176	20.1672	0.98154	0.0:0.0:1.0:0.0	.	254	Q8IY51	TIGD4_HUMAN	D	254	ENSP00000355162:A254D	ENSP00000355162:A254D	A	-	2	0	TIGD4	153910846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.224000	0.51238	2.861000	0.98227	0.655000	0.94253	GCT	TIGD4	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000169989		0.398	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	-	0	78	0	G	NM_145720		153691396	-1	tier1	-	no_errors	ENST00000304337	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	153691396	G	T	153691396	3	4	58	1	0	0	0	0	1	0	0	0	15945	971	34	3	781	3	TIGD4	4	153691396	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	444107	153691396	37462880	637	15020											
DCHS2	54798	genome.wustl.edu	37	chr4	155411314	155411314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacggcgatggacacGcgcaccgtggcaacctcagg	9	4	13	15	5	1	0	1	0	0	0	2	2	2	1	3	4	2	3	3	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:155411314G>A	ENST00000339452.1	-	1	1554	c.1194C>T	c.(1192-1194)cgC>cgT	p.R398R	DCHS2_ENST00000456341.2_Silent_p.R391R|DCHS2_ENST00000443500.1_Silent_p.R398R	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1568	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGATGGACACGCGCACCGTGG	0.662																																																	0													6	8	8					4																	155411314		671	1563	2234	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1194C>T	4.37:g.155411314G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R398	ENST00000339452.1	37	c.1194	CCDS47150.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.662	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0	39	0	G	NM_001142552		155411314	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	silent	41.38	17	12	SNP	0.961	A	A	155411314	G	A	155411314	2	1	58	1	0	0	0	0	0	0	0	1	4297	1074	38	1		1	DCHS2	4	155411314	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1719918	155411314	35742962	638	15021											
LRAT	9227	genome.wustl.edu	37	chr4	155665742	155665742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacgacatggggcgcacGcagaaggtggtctccaacaa	13	4	13	11	3	1	2	0	0	1	2	2	3	1	2	1	4	1	2	1	4	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:155665742G>A	ENST00000336356.3	+	2	517	c.264G>A	c.(262-264)acG>acA	p.T88T	LRAT_ENST00000507827.1_Silent_p.T88T	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	88					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGGGGCGCACGCAGAAGGTGG	0.582																																																	0													73	73	73					4																	155665742		2203	4300	6503	SO:0001819	synonymous_variant	0			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.264G>A	4.37:g.155665742G>A			A8K983|Q8N716	Silent	SNP	pfam_LRAT-like_dom	p.T88	ENST00000336356.3	37	c.264	CCDS3789.1	4																																																																																			LRAT	-	NULL	ENSG00000121207		0.582	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRAT	HGNC	protein_coding	OTTHUMT00000365246.1	-	0	25	0	G	NM_004744		155665742	1	tier1	-	no_errors	ENST00000336356	ensembl	human	known	74_37	silent	57.89	7	11	SNP	0.090	A	A	155665742	G	A	155665742	2	1	58	1	0	0	0	0	0	0	0	1	8965	1074	38	1		1	LRAT	4	155665742	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	254428	155665742	35488534	639	15022											
RBM46	166863	genome.wustl.edu	37	chr4	155749056	155749056	+	Frame_Shift_Del	DEL	C	C	-																															cagctcaataaatagtctttCccctgttagtgctaccctct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:155749056delC	ENST00000281722.3	+	5	1674	c.1439delC	c.(1438-1440)tccfs	p.S480fs	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	480							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AATAGTCTTTCCCCTGTTAGT	0.378																																																	0													185	190	188					4																	155749056		2203	4300	6503	SO:0001589	frameshift_variant	0			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1439delC	4.37:g.155749056delC	ENSP00000281722:p.Ser480fs		B3KWU8|B4DZ27	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.P481fs	ENST00000281722.3	37	c.1439	CCDS3790.1	4																																																																																			RBM46	-	NULL	ENSG00000151962		0.378	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1		0	53	0	C	NM_144979		155749056	1	tier1		no_errors	ENST00000281722	ensembl	human	known	74_37	frame_shift_del	31.11	31	14	DEL	1.000	-	-	155749056	C	-	155749056	7	5	58	1	0	1	0	1	0	0	0	0	13185	855	30	0	1453	0	RBM46	4	155749056	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	83314	155749056	35405220	640	15023											
NPY2R	4887	genome.wustl.edu	37	chr4	156135406	156135406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacactctgtgtctaccGttcactcttacctatacctt	8	15	5	13	1	4	1	1	1	3	0	4	1	4	1	3	0	4	1	3	0	5	6	rs148709959		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:156135406G>A	ENST00000329476.3	+	2	804	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NPY2R_ENST00000506608.1_Silent_p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGTGTCTACCGTTCACTCTTA	0.493																																																	0													79	81	80					4																	156135406		2203	4300	6503	SO:0001819	synonymous_variant	0			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.315G>A	4.37:g.156135406G>A			Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.P105	ENST00000329476.3	37	c.315	CCDS3791.1	4																																																																																			NPY2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt	ENSG00000185149		0.493	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	-	0	57	0	G	NM_000910		156135406	1	tier1	-	no_errors	ENST00000329476	ensembl	human	known	74_37	silent	43.14	29	22	SNP	0.846	A	A	156135406	G	A	156135406	2	1	58	1	0	0	0	0	0	0	0	1	10648	1132	40	1		1	NPY2R	4	156135406	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	386350	156135406	35018870	641	15024											
GUCY1A3	2982	genome.wustl.edu	37	chr4	156632032	156632032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtcgttaatgcctcccTgcttccataatgattgcagc	9	13	8	11	1	0	1	0	1	0	0	3	1	2	1	3	0	4	3	3	0	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:156632032T>C	ENST00000296518.7	+	6	924	c.715T>C	c.(715-717)Tgc>Cgc	p.C239R	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.C239R|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	239					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AATGCCTCCCTGCTTCCATAA	0.493																																																	0													124	117	119					4																	156632032		2203	4300	6503	SO:0001583	missense	0				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.715T>C	4.37:g.156632032T>C	ENSP00000296518:p.Cys239Arg		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.C239R	ENST00000296518.7	37	c.715	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	T	4.723	0.134489	0.09032	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	5.64	3.23	0.37069	.	0.332209	0.30269	N	0.010013	T	0.32224	0.0822	L	0.48362	1.52	0.53688	D	0.999978	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.07673	-1.0760	10	0.15952	T	0.53	.	10.0453	0.42184	0.0:0.1364:0.0:0.8636	rs34483890	239;239;239	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	R	239	ENSP00000424361:C239R;ENSP00000421493:C239R;ENSP00000426968:C239R;ENSP00000412201:C239R;ENSP00000296518:C239R;ENSP00000426040:C239R	ENSP00000296518:C239R	C	+	1	0	GUCY1A3	156851482	0.993000	0.37304	0.231000	0.23993	0.819000	0.46315	1.974000	0.40559	0.508000	0.28173	0.523000	0.50628	TGC	GUCY1A3	-	superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000164116		0.493	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	-	0	31	0	T			156632032	1	tier1	-	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.991	C	C	156632032	T	C	156632032	3	2	58	1	0	0	0	0	1	0	0	0	6921	1580	55	4	729	4	GUCY1A3	4	156632032	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	496626	156632032	34522244	642	15025											
PDGFC	56034	genome.wustl.edu	37	chr4	157688926	157688926	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaattgtatacctaccTcgtggtattttttagtaact	13	16	6	6	1	0	1	0	0	0	1	1	1	0	1	2	1	3	3	2	1	9	9			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:157688926T>G	ENST00000502773.1	-	5	1410	c.920A>C	c.(919-921)gAg>gCg	p.E307A	PDGFC_ENST00000541126.1_Splice_Site_p.E144A|PDGFC_ENST00000542208.1_Splice_Site_p.E152A|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	307					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATACCTACCTCGTGGTATTT	0.383																																																	0													85	82	83					4																	157688926		2203	4300	6503	SO:0001630	splice_region_variant	0			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.921+1A>C	4.37:g.157688926T>G			B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.E307A	ENST00000502773.1	37	c.920	CCDS3795.1	4	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365048	0.82463	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.51071	2.23;0.74;0.72	5.56	5.56	0.83823	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	T	0.74553	-0.3627	10	0.87932	D	0	-27.6737	15.7233	0.77732	0.0:0.0:0.0:1.0	.	152;307	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	A	307;144;152	ENSP00000422464:E307A;ENSP00000442943:E144A;ENSP00000439728:E152A	ENSP00000422464:E307A	E	-	2	0	PDGFC	157908376	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	7.651000	0.83577	2.115000	0.64714	0.528000	0.53228	GAG	PDGFC	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000145431		0.383	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFC	HGNC	protein_coding	OTTHUMT00000366123.1	-	0	34	0	T		Missense_Mutation	157688926	-1	tier1	-	no_errors	ENST00000502773	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	G	G	157688926	T	G	157688926	5	3	58	1	0	0	0	0	0	0	1	0	11698	1565	54	4	125	4	PDGFC	4	157688926	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1056894	157688926	33465350	643	15026											
PPID	5481	genome.wustl.edu	37	chr4	159642600	159642600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttccgcagttttgggtaCgatatctgcaaacaattcta	11	15	7	8	2	2	0	0	0	2	0	3	1	3	0	1	1	3	4	1	1	5	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:159642600C>T	ENST00000307720.3	-	2	228	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	41	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTTTTGGGTACGATATCTGCA	0.378																																																	0													94	91	92					4																	159642600		2203	4300	6503	SO:0001583	missense	0				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"Tetratricopeptide (TTC) repeat domain containing"	9257	protein-coding gene	gene with protein product	"cyclophilin 40"	601753	"peptidylprolyl isomerase D (cyclophilin D)"			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.121G>A	4.37:g.159642600C>T	ENSP00000303754:p.Val41Ile		B2R9V2	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V41I	ENST00000307720.3	37	c.121	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131709	0.56828	.	.	ENSG00000171497	ENST00000307720	T	0.23552	1.9	5.0	5.0	0.66597	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.39083	N	0.001475	T	0.39253	0.1071	M	0.85542	2.76	0.48571	D	0.999676	B	0.20780	0.048	B	0.18561	0.022	T	0.43829	-0.9367	10	0.87932	D	0	-28.2983	19.1814	0.93625	0.0:1.0:0.0:0.0	.	41	Q08752	PPID_HUMAN	I	41	ENSP00000303754:V41I	ENSP00000303754:V41I	V	-	1	0	PPID	159862050	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.597000	0.54031	2.706000	0.92434	0.561000	0.74099	GTA	PPID	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000171497		0.378	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	-	0	75	0	C	NM_005038		159642600	-1	tier1	-	no_errors	ENST00000307720	ensembl	human	known	74_37	missense	29.47	67	28	SNP	1.000	T	T	159642600	C	T	159642600	3	4	58	1	0	0	0	0	1	0	0	0	12363	536	19	1	1027	1	PPID	4	159642600	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1953674	159642600	31511676	644	15027											
C4orf43	55319	genome.wustl.edu	37	chr4	164435265	164435265	+	Frame_Shift_Del	DEL	A	A	-																															tcaaaatcatcttgatccccAaaaaaagagatattcaaaga																								rs2304802	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:164435265delA	ENST00000358572.5	+	4	535	c.194delA	c.(193-195)caafs	p.Q65fs	TMA16_ENST00000508268.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513272.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000513134.1_Frame_Shift_Del_p.Q65fs	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	65			Q -> P (in dbSNP:rs2304802). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)		p.Q65P(2)									CTTGATCCCCAAAAAAAGAGA	0.358																																																	2	Substitution - Missense(2)	prostate(1)|stomach(1)											95	86	89					4																	164435265		1826	4074	5900	SO:0001589	frameshift_variant	0				CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 43"	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.194delA	4.37:g.164435265delA	ENSP00000351380:p.Gln65fs		Q0P6E4|Q0P6J1|Q9NUR7	Frame_Shift_Del	DEL	pfam_Tma16	p.K67fs	ENST00000358572.5	37	c.194	CCDS43278.1	4																																																																																			TMA16	-	pfam_Tma16	ENSG00000198498		0.358	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMA16	HGNC	protein_coding	OTTHUMT00000365208.1		0	52	0	A	NM_018352		164435265	1	tier1		no_errors	ENST00000358572	ensembl	human	known	74_37	frame_shift_del	31.91	32	15	DEL	0.343	-	-	164435265	A	-	164435265	7	5	58	1	0	1	0	1	0	0	0	0	2278	130	5	0	208	0	C4orf43	4	164435265	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	4792665	164435265	26719011	645	15028											
SC4MOL	6307	genome.wustl.edu	37	chr4	166259012	166259012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaatcacttctgtatccaGctgcctttgatttgtggaac	8	17	7	9	0	2	1	1	1	1	0	3	2	3	2	2	1	3	2	2	1	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:166259012G>T	ENST00000261507.6	+	3	500	c.327G>T	c.(325-327)caG>caT	p.Q109H	MSMO1_ENST00000504317.1_Missense_Mutation_p.Q109H|MSMO1_ENST00000393766.2_5'UTR	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	109					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										TCTGTATCCAGCTGCCTTTGA	0.338																																																	0													115	115	115					4																	166259012		2203	4300	6503	SO:0001583	missense	0			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"Fatty acid hydroxylase domain containing"	10545	protein-coding gene	gene with protein product		607545	"sterol-C4-methyl oxidase-like"	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.327G>T	4.37:g.166259012G>T	ENSP00000261507:p.Gln109His		A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.Q109H	ENST00000261507.6	37	c.327	CCDS3809.1	4	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319902	0.60634	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317	T;T;T	0.42513	0.97;0.97;0.97	5.75	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.85373	2.75	0.80722	D	1	B;D	0.71674	0.12;0.998	B;D	0.79784	0.043;0.993	T	0.69379	-0.5161	10	0.44086	T	0.13	-20.9408	12.7012	0.57034	0.1365:0.0:0.8635:0.0	.	109;109	D6R952;Q15800	.;MSMO1_HUMAN	H	109	ENSP00000261507:Q109H;ENSP00000425241:Q109H;ENSP00000423633:Q109H	ENSP00000261507:Q109H	Q	+	3	2	SC4MOL	166478462	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.432000	0.52824	1.444000	0.47605	0.655000	0.94253	CAG	MSMO1	-	NULL	ENSG00000052802		0.338	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMO1	HGNC	protein_coding	OTTHUMT00000363880.1	-	0	57	0	G	NM_006745		166259012	1	tier1	-	no_errors	ENST00000261507	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	166259012	G	T	166259012	3	4	58	1	0	0	0	0	1	0	0	0	13910	962	34	3	333	3	SC4MOL	4	166259012	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1823747	166259012	24895264	646	15029											
TLL1	7092	genome.wustl.edu	37	chr4	166946529	166946529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggatttcccaatggCtacccttcttacacacactg	9	12	5	15	0	2	0	0	0	2	0	4	1	3	1	3	2	2	1	3	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:166946529C>T	ENST00000061240.2	+	9	1751	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	TLL1_ENST00000507499.1_Silent_p.G368G|TLL1_ENST00000513213.1_Silent_p.G368G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	368	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTCCCAATGGCTACCCTTCTT	0.393																																																	0													106	108	108					4																	166946529		2203	4300	6503	SO:0001819	synonymous_variant	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1104C>T	4.37:g.166946529C>T			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G368	ENST00000061240.2	37	c.1104	CCDS3811.1	4																																																																																			TLL1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom	ENSG00000038295		0.393	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	64	0	C			166946529	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	silent	32.81	43	21	SNP	1.000	T	T	166946529	C	T	166946529	2	4	58	1	0	0	0	0	0	0	0	1	15992	784	28	3		3	TLL1	4	166946529	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	687517	166946529	24207747	647	15030											
HMGB2	3148	genome.wustl.edu	37	chr4	174254086	174254086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagtatccccaatggatagGccagggtgttcacttttgat	9	12	11	9	0	1	1	1	1	0	0	2	2	2	2	3	3	0	3	3	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:174254086G>A	ENST00000296503.5	-	4	1230	c.357C>T	c.(355-357)ggC>ggT	p.G119G	HMGB2_ENST00000438704.2_Silent_p.G119G|HMGB2_ENST00000446922.2_Silent_p.G119G			P26583	HMGB2_HUMAN	high mobility group box 2	119					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CAATGGATAGGCCAGGGTGTT	0.418																																																	0													144	150	148					4																	174254086		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"High-mobility group / Canonical"	5000	protein-coding gene	gene with protein product		163906	"high-mobility group (nonhistone chromosomal) protein 2", "high-mobility group box 2"	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.357C>T	4.37:g.174254086G>A			B2R4K8|D3DP37|Q5U072	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G119	ENST00000296503.5	37	c.357	CCDS3816.1	4																																																																																			HMGB2	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000164104		0.418	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1	-	0	53	0	G	NM_001130688		174254086	-1	tier1	-	no_errors	ENST00000296503	ensembl	human	known	74_37	silent	28.99	49	20	SNP	0.942	A	A	174254086	G	A	174254086	2	1	58	1	0	0	0	0	0	0	0	1	7253	1190	42	3		3	HMGB2	4	174254086	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7307557	174254086	16900190	648	15031											
WDR17	116966	genome.wustl.edu	37	chr4	177058691	177058691	+	Frame_Shift_Del	DEL	G	G	-																															gtggtttaaattgtattgctGggggaacttcccgaaatggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:177058691delG	ENST00000280190.4	+	10	1516	c.1360delG	c.(1360-1362)gggfs	p.G455fs	WDR17_ENST00000507824.2_Frame_Shift_Del_p.G438fs|WDR17_ENST00000508596.1_Frame_Shift_Del_p.G431fs|WDR17_ENST00000393643.2_Frame_Shift_Del_p.G431fs			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	455										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGTATTGCTGGGGGAACTTC	0.289																																																	0													77	81	80					4																	177058691		2202	4297	6499	SO:0001589	frameshift_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1360delG	4.37:g.177058691delG	ENSP00000280190:p.Gly455fs		E7EQX0|Q0QD35	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G455fs	ENST00000280190.4	37	c.1360	CCDS3825.1	4																																																																																			WDR17	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000150627		0.289	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0	96	0	G			177058691	1	tier1		no_errors	ENST00000280190	ensembl	human	known	74_37	frame_shift_del	28.72	67	27	DEL	1.000	-	-	177058691	G	-	177058691	7	5	58	1	0	1	0	1	0	0	0	0	17326	1348	47	0	1394	0	WDR17	4	177058691	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	2804605	177058691	14095585	649	15032											
RWDD4A	201965	genome.wustl.edu	37	chr4	184572382	184572382	+	Frame_Shift_Del	DEL	A	A	-																															actactcacatggtgttgttAaaaaaagcgttcatagatag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:184572382delA	ENST00000326397.5	-	3	476	c.204delT	c.(202-204)tttfs	p.F68fs	RNU6-479P_ENST00000516348.1_RNA|RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000327570.9_Frame_Shift_Del_p.F68fs|RWDD4_ENST00000512740.1_Frame_Shift_Del_p.F5fs	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	68	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						TGGTGTTGTTAAAAAAAGCGT	0.363																																																	0													133	130	131					4																	184572382		2203	4300	6503	SO:0001589	frameshift_variant	0			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"family with sequence similarity 28, member A", "RWD domain containing 4A"	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.204delT	4.37:g.184572382delA	ENSP00000388920:p.Phe68fs		B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Frame_Shift_Del	DEL	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.F68fs	ENST00000326397.5	37	c.204	CCDS34111.1	4																																																																																			RWDD4	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000182552		0.363	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RWDD4	HGNC	protein_coding	OTTHUMT00000361499.2		0	132	0	A	NM_152682		184572382	-1	tier1		no_errors	ENST00000326397	ensembl	human	known	74_37	frame_shift_del	34.56	89	47	DEL	0.995	-	-	184572382	A	-	184572382	7	5	58	1	0	1	0	1	0	0	0	0	13803	359	13	0	382	0	RWDD4A	4	184572382	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	7513691	184572382	6581894	650	15033											
SNX25	83891	genome.wustl.edu	37	chr4	186267693	186267693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttttccccccacagtgCgtcccttctttaaaaaaagt	10	14	4	13	1	1	0	0	0	1	0	3	0	3	0	4	0	1	0	4	0	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:186267693C>T	ENST00000504273.1	+	13	1992	c.1698C>T	c.(1696-1698)tgC>tgT	p.C566C	SNX25_ENST00000264694.8_Silent_p.C566C|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	566	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.C566C(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCCCACAGTGCGTCCCTTCTT	0.299																																																	1	Substitution - coding silent(1)	pancreas(1)											50	52	51					4																	186267693		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"Sorting nexins"	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1698C>T	4.37:g.186267693C>T			Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.C566	ENST00000504273.1	37	c.1698	CCDS34116.1	4																																																																																			SNX25	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000109762		0.299	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	-	0	82	0	C	NM_031953		186267693	1	tier1	-	no_errors	ENST00000264694	ensembl	human	known	74_37	silent	36.96	58	34	SNP	1.000	T	T	186267693	C	T	186267693	2	4	58	1	0	0	0	0	0	0	0	1	14941	776	27	1		1	SNX25	4	186267693	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1695311	186267693	4886583	651	15034											
SORBS2	8470	genome.wustl.edu	37	chr4	186583327	186583327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaatatgccgagggggAaaacggcctctgatagtaac	14	6	14	7	2	1	2	0	1	1	1	1	6	1	3	2	3	3	1	2	3	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:186583327A>G	ENST00000284776.7	-	5	534	c.25T>C	c.(25-27)Tcc>Ccc	p.S9P	SORBS2_ENST00000355634.5_Missense_Mutation_p.S109P|SORBS2_ENST00000437304.2_Missense_Mutation_p.S188P|SORBS2_ENST00000319471.9_Missense_Mutation_p.S95P|SORBS2_ENST00000448662.2_Missense_Mutation_p.S78P|SORBS2_ENST00000393528.3_Missense_Mutation_p.S55P|SORBS2_ENST00000449407.2_Missense_Mutation_p.S95P|SORBS2_ENST00000431808.1_Missense_Mutation_p.S9P	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	9					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCCGAGGGGGAAAACGGCCTC	0.498																																					Esophageal Squamous(153;41 2433 9491 36028)												0																																										SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.25T>C	4.37:g.186583327A>G	ENSP00000284776:p.Ser9Pro		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.S9P	ENST00000284776.7	37	c.25	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362901	0.82353	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000445343;ENST00000439914;ENST00000444771;ENST00000430503;ENST00000450341;ENST00000445115;ENST00000457247;ENST00000456596;ENST00000425679;ENST00000439049;ENST00000451958;ENST00000444781;ENST00000414724;ENST00000419063;ENST00000393523	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.51	5.51	0.81932	.	0.100607	0.64402	D	0.000001	T	0.55847	0.1946	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;P;B;B;D;D	0.76494	0.999;0.991;0.993;0.994;0.998;0.998;0.992;0.94;0.051;0.092;0.999;0.999	D;D;D;D;D;D;D;P;B;B;D;D	0.87578	0.997;0.993;0.996;0.987;0.995;0.993;0.98;0.834;0.04;0.067;0.997;0.998	T	0.58858	-0.7562	10	0.87932	D	0	-23.2011	15.79	0.78350	1.0:0.0:0.0:0.0	.	72;55;78;55;109;9;95;188;78;55;9;55	B7Z3D7;G3XAI0;C9JKV9;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	P	9;78;9;188;95;95;109;55;55;9;9;9;55;9;9;9;9;78;78;78;72;95;109;9	ENSP00000284776:S9P;ENSP00000409158:S78P;ENSP00000411764:S9P;ENSP00000396008:S188P;ENSP00000322182:S95P;ENSP00000397262:S95P;ENSP00000347852:S109P;ENSP00000377162:S55P;ENSP00000321983:S55P;ENSP00000399048:S9P;ENSP00000408909:S9P;ENSP00000410483:S9P;ENSP00000405349:S55P;ENSP00000415680:S9P;ENSP00000397664:S9P;ENSP00000398335:S9P;ENSP00000410967:S9P;ENSP00000415637:S78P;ENSP00000416464:S78P;ENSP00000405092:S78P;ENSP00000396183:S72P;ENSP00000403417:S95P;ENSP00000408504:S109P	ENSP00000284776:S9P	S	-	1	0	SORBS2	186820321	1.000000	0.71417	0.995000	0.50966	0.814000	0.46013	7.030000	0.76484	2.313000	0.78055	0.455000	0.32223	TCC	SORBS2	-	NULL	ENSG00000154556		0.498	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	-	0	79	0	A	NM_003603		186583327	-1	tier1	-	no_errors	ENST00000284776	ensembl	human	known	74_37	missense	47.13	46	41	SNP	1.000	G	G	186583327	A	G	186583327	3	3	58	1	0	0	0	0	1	0	0	0	14973	246	9	4	3685	4	SORBS2	4	186583327	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	315634	186583327	4570949	652	15035											
NKD2	85409	genome.wustl.edu	37	chr5	1038447	1038447	+	Missense_Mutation	SNP	C	C	G																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:1038447C>G	ENST00000296849.5	+	10	1544	c.1315C>G	c.(1315-1317)Cac>Gac	p.H439D	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Missense_Mutation_p.A78G	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	439	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccacca	0.692																																																	0													5	4	4					5																	1038447		1922	3764	5686	SO:0001583	missense	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315C>G	5.37:g.1038447C>G	ENSP00000296849:p.His439Asp		Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.H439D	ENST00000296849.5	37	c.1315	CCDS3859.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.175734|2.175734	0.38413|0.38413	.|.	.|.	ENSG00000145506|ENSG00000145506	ENST00000382730|ENST00000296849	T|T	0.43294|0.57436	0.95|0.4	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.000000	.|0.49916	.|U	.|0.000125	T|T	0.45316|0.45316	0.1336|0.1336	N|N	0.08118|0.08118	0|0	0.23751|0.23751	N|N	0.996949|0.996949	.|D	.|0.61697	.|0.99	.|P	.|0.57324	.|0.818	T|T	0.37709|0.37709	-0.9694|-0.9694	7|10	0.87932|0.87932	D|D	0|0	-15.3712|-15.3712	10.9501|10.9501	0.47323|0.47323	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|439	.|Q969F2	.|NKD2_HUMAN	G|D	78|439	ENSP00000372177:A78G|ENSP00000296849:H439D	ENSP00000372177:A78G|ENSP00000296849:H439D	A|H	+|+	2|1	0|0	NKD2|NKD2	1091447|1091447	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.983000|0.983000	0.72400|0.72400	4.911000|4.911000	0.63328|0.63328	1.633000|1.633000	0.50488|0.50488	0.561000|0.561000	0.74099|0.74099	GCA|CAC	NKD2	-	NULL	ENSG00000145506		0.692	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2		0	80	0	C	NM_033120		1038447	1			no_errors	ENST00000296849	ensembl	human	known	74_37	missense	7.02	88	8	SNP	1.000	G	G	1038447	C	G	1038447	3	3	58	1	0	0	0	0	1	0	0	0	10481	710	25	5	1353	5	NKD2	5	1038447	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09		1038447	179876813	653	15036	63	2									
NKD2	85409	genome.wustl.edu	37	chr5	1038449	1038449	+	Missense_Mutation	SNP	C	C	G																															caccaccaccaccacgagcaCcaccaccaccaccaccacca																								rs3840989		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:1038449C>G	ENST00000296849.5	+	10	1546	c.1317C>G	c.(1315-1317)caC>caG	p.H439Q	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Missense_Mutation_p.P79A	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	439	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			accacgagcaccaccaccacc	0.692																																																	0													5	4	4					5																	1038449		1926	3751	5677	SO:0001583	missense	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"EF-hand domain containing"	17046	protein-coding gene	gene with protein product	"naked cuticle-2", "Dvl-binding protein NKD2"	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1317C>G	5.37:g.1038449C>G	ENSP00000296849:p.His439Gln		Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.H439Q	ENST00000296849.5	37	c.1317	CCDS3859.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.16|11.16	1.555962|1.555962	0.27827|0.27827	.|.	.|.	ENSG00000145506|ENSG00000145506	ENST00000296849|ENST00000382730	T|T	0.57273|0.53423	0.41|0.62	3.7|3.7	1.85|1.85	0.25348|0.25348	.|.	0.000000|.	0.49916|.	U|.	0.000125|.	T|T	0.27169|0.27169	0.0666|0.0666	N|N	0.08118|0.08118	0|0	0.20074|0.20074	N|N	0.999935|0.999935	D|.	0.69078|.	0.997|.	P|.	0.60949|.	0.881|.	T|T	0.21999|0.21999	-1.0229|-1.0229	10|7	0.87932|0.87932	D|D	0|0	-15.3712|-15.3712	5.1278|5.1278	0.14894|0.14894	0.0:0.7207:0.0:0.2793|0.0:0.7207:0.0:0.2793	.|.	439|.	Q969F2|.	NKD2_HUMAN|.	Q|A	439|79	ENSP00000296849:H439Q|ENSP00000372177:P79A	ENSP00000296849:H439Q|ENSP00000372177:P79A	H|P	+|+	3|1	2|0	NKD2|NKD2	1091449|1091449	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	0.431000|0.431000	0.21444|0.21444	0.551000|0.551000	0.29008|0.29008	0.561000|0.561000	0.74099|0.74099	CAC|CCA	NKD2	-	NULL	ENSG00000145506		0.692	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2		0	79	0	C	NM_033120		1038449	1			no_errors	ENST00000296849	ensembl	human	known	74_37	missense	9.28	88	9	SNP	1.000	G	G	1038449	C	G	1038449	3	3	58	1	0	0	0	0	1	0	0	0	10481	506	18	5	1355	5	NKD2	5	1038449	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2	1038449	179876811	654	15037	63	2									
CLPTM1L	81037	genome.wustl.edu	37	chr5	1339037	1339037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagacaaagttgtccgcCatcacgttcagcgccagccg	11	7	9	14	4	3	1	3	0	0	1	4	1	4	1	4	0	2	2	4	0	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:1339037C>T	ENST00000320895.5	-	4	794	c.537G>A	c.(535-537)atG>atA	p.M179I	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.M46I|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.M179I	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	179					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AGTTGTCCGCCATCACGTTCA	0.617																																																	0													65	61	62					5																	1339037		2202	4300	6502	SO:0001583	missense	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.537G>A	5.37:g.1339037C>T	ENSP00000313854:p.Met179Ile		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.M179I	ENST00000320895.5	37	c.537	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748962	0.30955	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.36699	1.24;1.31;1.25	5.24	4.36	0.52297	.	0.086880	0.85682	D	0.000000	T	0.26774	0.0655	L	0.28344	0.845	0.49582	D	0.999806	B;B	0.21821	0.044;0.061	B;B	0.23419	0.046;0.008	T	0.03818	-1.1001	10	0.16420	T	0.52	-45.1229	15.2672	0.73672	0.1413:0.8587:0.0:0.0	.	179;46	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	I	179;46;179	ENSP00000313854:M179I;ENSP00000423321:M46I;ENSP00000315196:M179I	ENSP00000313854:M179I	M	-	3	0	CLPTM1L	1392037	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	3.693000	0.54735	1.187000	0.43000	0.591000	0.81541	ATG	CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.617	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	-	0	58	0	C	NM_030782		1339037	-1	tier1	-	no_errors	ENST00000320895	ensembl	human	known	74_37	missense	34.41	61	32	SNP	1.000	T	T	1339037	C	T	1339037	3	4	58	1	0	0	0	0	1	0	0	0	3562	594	21	3	1135	3	CLPTM1L	5	1339037	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	300588	1339037	179576223	655	15038											
IRX1	79192	genome.wustl.edu	37	chr5	3599698	3599698	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggcagcgacaccgagggCgacccggagaaggccgagga	10	2	17	12	6	0	1	0	0	0	1	1	7	0	2	3	5	1	1	3	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627																																																	0													66	60	62					5																	3599698		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.636C>T	5.37:g.3599698C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.G212	ENST00000302006.3	37	c.636	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.627	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0	56	0	C	NM_024337		3599698	1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	20.27	59	15	SNP	0.995	T	T	3599698	C	T	3599698	2	4	58	1	0	0	0	0	0	0	0	1	7870	755	27	1		1	IRX1	5	3599698	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2260661	3599698	177315562	656	15039											
IRX1	79192	genome.wustl.edu	37	chr5	3599713	3599713	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgacccggagaaggcCgaggacgacgaggagatcga	12	1	19	9	6	0	2	0	0	0	2	1	11	0	3	2	5	0	0	2	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:3599713C>T	ENST00000302006.3	+	2	703	c.651C>T	c.(649-651)gcC>gcT	p.A217A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	217					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGGAGAAGGCCGAGGACGACG	0.612																																																	0													66	60	62					5																	3599713		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.651C>T	5.37:g.3599713C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A217	ENST00000302006.3	37	c.651	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.612	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0	53	0	C	NM_024337		3599713	1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	26.87	49	18	SNP	0.995	T	T	3599713	C	T	3599713	2	4	58	1	0	0	0	0	0	0	0	1	7870	639	23	1		1	IRX1	5	3599713	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	15	3599713	177315547	657	15040											
IRX1	79192	genome.wustl.edu	37	chr5	3600309	3600309	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaccgcagccgccggTcgctattgccccgggggcac	5	5	12	19	5	0	0	0	0	0	0	2	0	1	0	7	3	2	3	7	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:3600309T>A	ENST00000302006.3	+	2	1299	c.1247T>A	c.(1246-1248)gTc>gAc	p.V416D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	416					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCCGCCGGTCGCTATTGCC	0.706																																																	0													18	22	21					5																	3600309		2196	4293	6489	SO:0001583	missense	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1247T>A	5.37:g.3600309T>A	ENSP00000305244:p.Val416Asp		Q7Z2F8|Q8N312	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.V416D	ENST00000302006.3	37	c.1247	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	T	0.093	-1.164170	0.01673	.	.	ENSG00000170549	ENST00000302006	T	0.60299	0.2	3.16	3.16	0.36331	.	0.902815	0.09421	N	0.804482	T	0.29684	0.0741	N	0.03608	-0.345	0.20307	N	0.999911	B	0.33073	0.396	B	0.23574	0.047	T	0.07966	-1.0745	10	0.30854	T	0.27	.	8.3604	0.32355	0.0:0.0:0.0:1.0	.	416	P78414	IRX1_HUMAN	D	416	ENSP00000305244:V416D	ENSP00000305244:V416D	V	+	2	0	IRX1	3653309	0.983000	0.35010	0.005000	0.12908	0.027000	0.11550	2.291000	0.43540	1.367000	0.46095	0.260000	0.18958	GTC	IRX1	-	NULL	ENSG00000170549		0.706	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0	20	0	T	NM_024337		3600309	1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	missense	68.75	10	22	SNP	0.003	A	A	3600309	T	A	3600309	3	1	58	1	0	0	0	0	1	0	0	0	7870	1667	58	5	1253	5	IRX1	5	3600309	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	596	3600309	177314951	658	15041											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5140806	5140806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccatgggacccgcagcGgcagcgcctgggagcccgag	6	3	17	15	5	0	0	0	0	0	0	0	3	0	2	4	3	4	2	4	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:5140806G>A	ENST00000274181.7	+	2	240	c.102G>A	c.(100-102)gcG>gcA	p.A34A	CTD-2297D10.2_ENST00000512155.1_RNA|ADAMTS16_ENST00000511368.1_Silent_p.A34A|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	34					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GACCCGCAGCGGCAGCGCCTG	0.731																																																	0																																										SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.102G>A	5.37:g.5140806G>A			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A34	ENST00000274181.7	37	c.102	CCDS43299.1	5																																																																																			ADAMTS16	-	NULL	ENSG00000145536		0.731	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	43	0	G	NM_139056		5140806	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	14.08	61	10	SNP	0.208	A	A	5140806	G	A	5140806	2	1	58	1	0	0	0	0	0	0	0	1	261	1103	39	1		1	ADAMTS16	5	5140806	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1540497	5140806	175774454	659	15042											
ADCY2	108	genome.wustl.edu	37	chr5	7695879	7695879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcatcttatacgctgAcatcgttggctttacccggc	8	11	8	14	3	1	1	0	1	1	0	2	1	1	1	2	2	3	4	2	2	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:7695879A>G	ENST00000338316.4	+	6	973	c.884A>G	c.(883-885)gAc>gGc	p.D295G	ADCY2_ENST00000537121.1_Missense_Mutation_p.D115G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	295					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTATACGCTGACATCGTTGGC	0.408																																																	0													92	83	86					5																	7695879		2203	4300	6503	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.884A>G	5.37:g.7695879A>G	ENSP00000342952:p.Asp295Gly		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D295G	ENST00000338316.4	37	c.884	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802797	0.70682	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.90676	-2.71;-2.71;-2.71	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	M	0.83012	2.62	0.58432	D	0.999996	D;P	0.89917	1.0;0.917	D;P	0.77004	0.989;0.828	D	0.96047	0.9028	10	0.87932	D	0	.	15.9211	0.79575	1.0:0.0:0.0:0.0	.	115;295	B7Z2C1;Q08462	.;ADCY2_HUMAN	G	295;146;84;115	ENSP00000342952:D295G;ENSP00000425069:D84G;ENSP00000444803:D115G	ENSP00000342952:D295G	D	+	2	0	ADCY2	7748879	1.000000	0.71417	0.990000	0.47175	0.176000	0.22953	8.882000	0.92420	2.210000	0.71456	0.533000	0.62120	GAC	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000078295		0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0	32	0	A	NM_020546		7695879	1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	25.37	50	17	SNP	1.000	G	G	7695879	A	G	7695879	3	3	58	1	0	0	0	0	1	0	0	0	294	275	10	4	906	4	ADCY2	5	7695879	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2555073	7695879	173219381	660	15043											
DNAH5	1767	genome.wustl.edu	37	chr5	13751302	13751302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggtgtaggctgggttaGgcaatttggtggtaatgtag	8	12	18	3	0	0	0	0	0	0	0	0	0	0	0	0	7	0	6	0	7	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:13751302G>T	ENST00000265104.4	-	65	11200	c.11096C>A	c.(11095-11097)cCt>cAt	p.P3699H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3699	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCTGGGTTAGGCAATTTGGT	0.403									Kartagener syndrome																																								0													173	158	163					5																	13751302		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11096C>A	5.37:g.13751302G>T	ENSP00000265104:p.Pro3699His		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P3699H	ENST00000265104.4	37	c.11096	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286057	0.80803	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.74	4.87	0.63330	.	0.051930	0.85682	N	0.000000	T	0.63827	0.2544	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79862	-0.1624	10	0.87932	D	0	.	16.0997	0.81163	0.0:0.0:0.865:0.135	.	3699	Q8TE73	DYH5_HUMAN	H	3699	ENSP00000265104:P3699H	ENSP00000265104:P3699H	P	-	2	0	DNAH5	13804302	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.343000	0.97047	1.406000	0.46857	0.650000	0.86243	CCT	DNAH5	-	NULL	ENSG00000039139		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	121	0	G	NM_001369		13751302	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	20.95	166	44	SNP	1.000	T	T	13751302	G	T	13751302	3	4	58	1	0	0	0	0	1	0	0	0	4618	1000	35	3	2838	3	DNAH5	5	13751302	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6055423	13751302	167163958	661	15044											
TRIO	7204	genome.wustl.edu	37	chr5	14419946	14419946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccgcttgcaacagcaaCgagctgaccatccgacgggg	10	6	11	14	4	1	1	1	1	0	0	2	3	2	1	3	2	5	4	3	2	2	2	rs540921917	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:14419946C>T	ENST00000344204.4	+	34	5043	c.5019C>T	c.(5017-5019)aaC>aaT	p.N1673N	TRIO_ENST00000537187.1_Silent_p.N1673N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1673	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAACAGCAACGAGCTGACCA	0.617													C|||	2	0.000399361	0	0	5008	,	,		19442	0		0	False		,,,				2504	0.002																0													56	48	51					5																	14419946		2203	4300	6503	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5019C>T	5.37:g.14419946C>T			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.N1673	ENST00000344204.4	37	c.5019	CCDS3883.1	5																																																																																			TRIO	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000038382		0.617	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0	38	0	C	NM_007118		14419946	1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	62.50	24	40	SNP	0.041	T	T	14419946	C	T	14419946	2	4	58	1	0	0	0	0	0	0	0	1	16600	535	19	1		1	TRIO	5	14419946	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	668644	14419946	166495314	662	15045											
CDH18	1016	genome.wustl.edu	37	chr5	19543993	19543993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaccaatttctgaagcagTgactgtgatgttgtaccatg	10	15	9	7	0	1	3	0	3	1	0	1	3	1	3	2	0	3	3	2	0	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:19543993T>C	ENST00000507958.1	-	11	2365	c.1375A>G	c.(1375-1377)Act>Gct	p.T459A	CDH18_ENST00000502796.1_Missense_Mutation_p.T459A|CDH18_ENST00000382275.1_Missense_Mutation_p.T459A|CDH18_ENST00000511273.1_Missense_Mutation_p.T459A|CDH18_ENST00000274170.4_Missense_Mutation_p.T459A|CDH18_ENST00000506372.1_Missense_Mutation_p.T459A			Q13634	CAD18_HUMAN	cadherin 18, type 2	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGAAGCAGTGACTGTGATG	0.383																																																	0													151	142	145					5																	19543993		2203	4300	6503	SO:0001583	missense	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1375A>G	5.37:g.19543993T>C	ENSP00000425093:p.Thr459Ala		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T459A	ENST00000507958.1	37	c.1375	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502767	0.26949	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;2.02;0.09	4.97	2.06	0.26882	Cadherin (4);Cadherin-like (1);	0.435259	0.26324	N	0.025030	T	0.42245	0.1194	L	0.45698	1.435	0.26258	N	0.978622	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.23190	-1.0195	9	.	.	.	.	3.6828	0.08317	0.1721:0.5388:0.0:0.2892	.	459;459	B4DHG6;Q13634	.;CAD18_HUMAN	A	459;459;459;459;459;459;405;459	ENSP00000371710:T459A;ENSP00000425093:T459A;ENSP00000274170:T459A;ENSP00000424931:T459A;ENSP00000422138:T459A;ENSP00000427383:T405A;ENSP00000425854:T459A	.	T	-	1	0	CDH18	19579750	0.428000	0.25522	0.994000	0.49952	0.875000	0.50365	0.292000	0.19011	0.108000	0.17862	0.260000	0.18958	ACT	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.383	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0	75	0	T	NM_004934		19543993	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	24.36	118	38	SNP	0.987	C	C	19543993	T	C	19543993	3	2	58	1	0	0	0	0	1	0	0	0	3110	1696	59	4	1017	4	CDH18	5	19543993	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	5124047	19543993	161371267	663	15046											
ZFR	51663	genome.wustl.edu	37	chr5	32403232	32403232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaaatttattttgggggTagatgttttcttggcagcca	11	15	10	5	0	1	1	0	0	1	1	1	1	1	1	1	3	2	3	1	3	5	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:32403232T>C	ENST00000265069.8	-	8	1597	c.1495A>G	c.(1495-1497)Acc>Gcc	p.T499A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	499					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTTTGGGGGTAGATGTTTTC	0.418																																																	0													121	121	121					5																	32403232		2203	4300	6503	SO:0001583	missense	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1495A>G	5.37:g.32403232T>C	ENSP00000265069:p.Thr499Ala		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.T499A	ENST00000265069.8	37	c.1495	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482204	0.26598	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.04862	3.54	5.73	5.73	0.89815	.	0.141423	0.64402	D	0.000004	T	0.04588	0.0125	N	0.10972	0.075	0.53688	D	0.999979	B	0.06786	0.001	B	0.04013	0.001	T	0.50303	-0.8844	10	0.23302	T	0.38	.	16.0067	0.80367	0.0:0.0:0.0:1.0	.	499	Q96KR1	ZFR_HUMAN	A	499;477	ENSP00000265069:T499A	ENSP00000265069:T499A	T	-	1	0	ZFR	32438989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.845000	0.62853	2.187000	0.69744	0.402000	0.26972	ACC	ZFR	-	NULL	ENSG00000056097		0.418	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	-	0	71	0	T			32403232	-1	tier1	-	no_errors	ENST00000265069	ensembl	human	known	74_37	missense	27.20	91	34	SNP	1.000	C	C	32403232	T	C	32403232	3	2	58	1	0	0	0	0	1	0	0	0	17707	1638	57	4	1781	4	ZFR	5	32403232	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	12859239	32403232	148512028	664	15047											
NPR3	4883	genome.wustl.edu	37	chr5	32712514	32712514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacgacaagctggagcGgaactgctacttcaccctcg	10	6	11	14	4	1	0	1	0	0	0	2	4	1	2	1	2	6	2	1	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:32712514G>A	ENST00000265074.8	+	1	975	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.R211Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	211					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AAGCTGGAGCGGAACTGCTAC	0.612																																																	0													52	60	57					5																	32712514		2072	4207	6279	SO:0001583	missense	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.632G>A	5.37:g.32712514G>A	ENSP00000265074:p.Arg211Gln		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.R211Q	ENST00000265074.8	37	c.632	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.157411	0.94686	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	D;D	0.83914	-1.78;-1.78	4.89	4.89	0.63831	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.953	D	0.88928	0.3371	10	0.15499	T	0.54	-15.8908	18.2354	0.89948	0.0:0.0:1.0:0.0	.	211;211	P17342;Q60I31	ANPRC_HUMAN;.	Q	211	ENSP00000265074:R211Q;ENSP00000398028:R211Q	ENSP00000265074:R211Q	R	+	2	0	NPR3	32748271	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.429000	0.97481	2.551000	0.86045	0.561000	0.74099	CGG	NPR3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000113389		0.612	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	-	0	56	0	G	NM_000908		32712514	1	tier1	-	no_errors	ENST00000265074	ensembl	human	known	74_37	missense	21.82	43	12	SNP	1.000	A	A	32712514	G	A	32712514	3	1	58	1	0	0	0	0	1	0	0	0	10635	1116	39	1	634	1	NPR3	5	32712514	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	309282	32712514	148202746	665	15048											
RXFP3	51289	genome.wustl.edu	37	chr5	33938025	33938025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctactgcctcgtgcgcCgcgagttccgcaaggcgctc	4	9	11	17	6	1	0	0	0	1	0	5	1	3	0	4	1	3	3	4	1	2	2	rs376877208		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:33938025C>T	ENST00000330120.3	+	1	1535	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	394					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTCGTGCGCCGCGAGTTCCG	0.632																																																	0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	68	71	70		1180	5.8	1	5		70	0,8600		0,0,4300	no	missense	RXFP3	NM_016568.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	394/470	33938025	2,13004	2203	4300	6503	SO:0001583	missense	0			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1180C>T	5.37:g.33938025C>T	ENSP00000328708:p.Arg394Cys		Q14DA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.R394C	ENST00000330120.3	37	c.1180	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969755	0.74246	4.54E-4	0.0	ENSG00000182631	ENST00000330120	T	0.40225	1.04	5.79	5.79	0.91817	.	0.051948	0.64402	D	0.000001	T	0.50188	0.1601	L	0.29908	0.895	0.54753	D	0.999985	D	0.89917	1.0	D	0.66351	0.943	T	0.50101	-0.8867	10	0.66056	D	0.02	-15.8688	13.0013	0.58676	0.2672:0.7328:0.0:0.0	.	394	Q9NSD7	RL3R1_HUMAN	C	394	ENSP00000328708:R394C	ENSP00000328708:R394C	R	+	1	0	RXFP3	33973782	0.984000	0.35163	1.000000	0.80357	0.986000	0.74619	0.441000	0.21611	2.726000	0.93360	0.655000	0.94253	CGC	RXFP3	-	prints_GPCR_Rhodpsn	ENSG00000182631		0.632	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	-	0	43	0	C	NM_016568		33938025	1	tier1	-	no_errors	ENST00000330120	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	T	T	33938025	C	T	33938025	3	4	58	1	0	0	0	0	1	0	0	0	13806	652	23	1	1182	1	RXFP3	5	33938025	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1225511	33938025	146977235	666	15049											
AMACR	23600	genome.wustl.edu	37	chr5	33989302	33989302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagtatctcctcagtgtGttctcctatgaaaggatccc	9	14	7	11	0	4	1	2	1	2	0	7	2	5	2	3	1	0	2	3	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:33989302G>A	ENST00000335606.6	-	5	1133	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	AMACR_ENST00000382085.3_Missense_Mutation_p.H349Y|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.H334Y|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	349					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TCCTCAGTGTGTTCTCCTATG	0.448																																																	0													89	92	91					5																	33989302		2203	4300	6503	SO:0001583	missense	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.1045C>T	5.37:g.33989302G>A	ENSP00000334424:p.His349Tyr		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.H349Y	ENST00000335606.6	37	c.1045	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617596	0.87359	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.74842	-0.88;-0.88;-0.88	5.6	5.6	0.85130	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.90759	3.145	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.995	D;D;D	0.75484	0.986;0.961;0.961	D	0.90569	0.4521	10	0.72032	D	0.01	-26.3242	19.9797	0.97321	0.0:0.0:1.0:0.0	.	349;334;349	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	Y	349;349;334	ENSP00000334424:H349Y;ENSP00000371517:H349Y;ENSP00000424351:H334Y	ENSP00000334424:H349Y	H	-	1	0	AMACR	34025059	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	9.456000	0.97628	2.791000	0.96007	0.637000	0.83480	CAC	AMACR	-	superfamily_CoA-Trfase_III_dom	ENSG00000242110		0.448	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	-	0	53	0	G	NM_014324		33989302	-1	tier1	-	no_errors	ENST00000335606	ensembl	human	known	74_37	missense	26.00	74	26	SNP	1.000	A	A	33989302	G	A	33989302	3	1	58	1	0	0	0	0	1	0	0	0	562	1377	48	3	165	3	AMACR	5	33989302	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	51277	33989302	146925958	667	15050											
DNAJC21	134218	genome.wustl.edu	37	chr5	34949704	34949704	+	Intron	DEL	A	A	-																															cactttcagatggcttggggAaaaaagtgtgtgttgggaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:34949704delA	ENST00000342382.4	+	10	1412				DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron|DNAJC21_ENST00000382021.2_Frame_Shift_Del_p.G414fs			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			tggcttggggaaaaaagtgtg	0.438																																																	0													79	75	76					5																	34949704		2202	4299	6501	SO:0001627	intron_variant	0				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"Heat shock proteins / DNAJ (HSP40)"	27030	protein-coding gene	gene with protein product	"JJJ1 DnaJ domain protein homolog (S. cerevisiae)"					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1186-571A>-	5.37:g.34949704delA			Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Frame_Shift_Del	DEL	pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K416fs	ENST00000342382.4	37	c.1242	CCDS34144.1	5																																																																																			DNAJC21	-	NULL	ENSG00000168724		0.438	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1		0	109	0	A	NM_194283		34949704	1	tier1		no_errors	ENST00000382021	ensembl	human	known	74_37	frame_shift_del	21.66	170	47	DEL	0.000	-	-	34949704	A	-	34949704	6	5	58	0	1	1	0	1	0	0	0	0	4654	233	9	0		0	DNAJC21	5	34949704	Intron	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	960402	34949704	145965556	668	15051											
SPEF2	79925	genome.wustl.edu	37	chr5	35659190	35659190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagcgcaggattgccGtgcagctcatgcatgttcgg	8	8	15	10	3	1	0	1	0	0	0	2	2	1	2	1	3	6	6	1	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:35659190G>A	ENST00000356031.3	+	8	1202	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SPEF2_ENST00000440995.2_Missense_Mutation_p.V350M|SPEF2_ENST00000282469.6_Missense_Mutation_p.V350M|SPEF2_ENST00000509059.1_Missense_Mutation_p.V350M	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	350					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGATTGCCGTGCAGCTCAT	0.458																																																	0													51	53	52					5																	35659190		2203	4300	6503	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1048G>A	5.37:g.35659190G>A	ENSP00000348314:p.Val350Met		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.V350M	ENST00000356031.3	37	c.1048	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372092	0.82573	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.55	5.55	0.83447	.	0.160123	0.44688	D	0.000438	T	0.44705	0.1306	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.987	T	0.31724	-0.9933	10	0.62326	D	0.03	.	19.5024	0.95100	0.0:0.0:1.0:0.0	.	350;350;350	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	M	350	ENSP00000282469:V350M;ENSP00000348314:V350M;ENSP00000421593:V350M;ENSP00000412125:V350M	ENSP00000282469:V350M	V	+	1	0	SPEF2	35694947	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	5.764000	0.68826	2.609000	0.88269	0.491000	0.48974	GTG	SPEF2	-	NULL	ENSG00000152582		0.458	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	48	0	G	NM_144722		35659190	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	21.69	65	18	SNP	0.998	A	A	35659190	G	A	35659190	3	1	58	1	0	0	0	0	1	0	0	0	15082	1145	40	1	1078	1	SPEF2	5	35659190	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	709486	35659190	145256070	669	15052											
EGFLAM	133584	genome.wustl.edu	37	chr5	38370435	38370435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggacctcaatccatgagCggatccagatggactccatg	11	8	11	11	1	1	2	1	1	0	1	4	5	4	5	4	3	1	0	4	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:38370435C>T	ENST00000354891.3	+	6	929	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R195W	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	195	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R195W(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATCCATGAGCGGATCCAGAT	0.498																																					Colon(62;485 1295 3347 17454)												2	Substitution - Missense(2)	lung(2)											98	93	94					5																	38370435		2203	4300	6503	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.583C>T	5.37:g.38370435C>T	ENSP00000346964:p.Arg195Trp		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.R195W	ENST00000354891.3	37	c.583	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.147709	0.94603	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57595	0.39;0.39	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.498887	0.22399	N	0.060569	T	0.67144	0.2862	M	0.66439	2.03	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.54270	0.747;0.631	T	0.69176	-0.5214	10	0.72032	D	0.01	-6.8536	19.688	0.95987	0.0:1.0:0.0:0.0	.	195;195	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	W	195	ENSP00000346964:R195W;ENSP00000313084:R195W	ENSP00000313084:R195W	R	+	1	2	EGFLAM	38406192	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	5.159000	0.64923	2.756000	0.94617	0.561000	0.74099	CGG	EGFLAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164318		0.498	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0	41	0	C	NM_152403		38370435	1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	17.71	79	17	SNP	1.000	T	T	38370435	C	T	38370435	3	4	58	1	0	0	0	0	1	0	0	0	4980	759	27	1	605	1	EGFLAM	5	38370435	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2711245	38370435	142544825	670	15053											
RICTOR	253260	genome.wustl.edu	37	chr5	38953112	38953113	+	Frame_Shift_Ins	INS	-	-	T																															atggaaagaacttcacactgINSttttgcaagttttagtatat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:38953112_38953113insT	ENST00000357387.3	-	29	2901_2902	c.2871_2872insA	c.(2869-2874)aaacagfs	p.Q958fs	RICTOR_ENST00000503698.1_5'Flank|RICTOR_ENST00000296782.5_Frame_Shift_Ins_p.Q958fs	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ACTTCACACTGTTTTGCAAGTT	0.356																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"rapamycin-insensitive companion of mTOR", "pianissimo"	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2872dupA	5.37:g.38953116_38953116dupT	ENSP00000349959:p.Gln958fs			Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.Q957fs	ENST00000357387.3	37	c.2872_2871	CCDS34148.1	5																																																																																			RICTOR	-	superfamily_ARM-type_fold	ENSG00000164327		0.356	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1		0	56	0	-	NM_152756		38953113	-1	tier1		no_errors	ENST00000296782	ensembl	human	known	74_37	frame_shift_ins	59.05	43	62	INS	1.000:1.000	T	T	38953113	-	T	38953112	7	5	58	1	0	1	1	0	0	0	0	0	13403	1386	48	0	2294	0	RICTOR	5	38953112	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	582677	38953112	141962148	671	15054											
FGF10	2255	genome.wustl.edu	37	chr5	44310592	44310592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttaatggctttgacGgcaacaactccgatttctac	9	14	8	10	2	1	1	0	1	1	0	2	2	2	1	1	2	4	4	1	2	4	5	rs200392834	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:44310592G>A	ENST00000264664.4	-	2	480	c.366C>T	c.(364-366)gcC>gcT	p.A122A		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	122					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TGGCTTTGACGGCAACAACTC	0.353													G|||	6	0.00119808	8e-04	0	5008	,	,		19073	0		0	False		,,,				2504	0.0051																0													123	106	112					5																	44310592		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.366C>T	5.37:g.44310592G>A			C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.A122	ENST00000264664.4	37	c.366	CCDS3950.1	5																																																																																			FGF10	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000070193		0.353	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF10	HGNC	protein_coding	OTTHUMT00000253845.2	-	0	88	0	G	NM_004465		44310592	-1	tier1	rs200392834	no_errors	ENST00000264664	ensembl	human	known	74_37	silent	22.67	133	39	SNP	0.588	A	A	44310592	G	A	44310592	2	1	58	1	0	0	0	0	0	0	0	1	5861	1103	39	1		1	FGF10	5	44310592	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5357480	44310592	136604668	672	15055											
HCN1	348980	genome.wustl.edu	37	chr5	45262495	45262495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgctgtacctgctgctgcGgctgctgttgcatgagtgac	5	12	13	11	1	0	2	0	2	0	0	0	2	0	2	1	1	7	8	1	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:45262495G>A	ENST00000303230.4	-	8	2258	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	734	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ctgctgctgcggctgctgttg	0.647																																																	0													26	28	28					5																	45262495		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2201C>T	5.37:g.45262495G>A	ENSP00000307342:p.Pro734Leu			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.P734L	ENST00000303230.4	37	c.2201	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	1.124	-0.654430	0.03480	.	.	ENSG00000164588	ENST00000303230	T	0.78924	-1.22	4.43	-5.85	0.02311	.	.	.	.	.	T	0.61048	0.2316	L	0.29908	0.895	0.22171	N	0.999318	B	0.02656	0.0	B	0.01281	0.0	T	0.45977	-0.9224	9	0.33141	T	0.24	.	9.488	0.38942	0.0877:0.0:0.453:0.4593	.	734	O60741	HCN1_HUMAN	L	734	ENSP00000307342:P734L	ENSP00000307342:P734L	P	-	2	0	HCN1	45298252	0.496000	0.26059	0.001000	0.08648	0.036000	0.12997	0.499000	0.22546	-0.760000	0.04677	-0.857000	0.03018	CCG	HCN1	-	NULL	ENSG00000164588		0.647	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	52	0	G	NM_021072		45262495	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	65.22	32	60	SNP	0.004	A	A	45262495	G	A	45262495	3	1	58	1	0	0	0	0	1	0	0	0	7023	1116	39	1	475	1	HCN1	5	45262495	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	951903	45262495	135652765	673	15056											
HCN1	348980	genome.wustl.edu	37	chr5	45267271	45267271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaggacctcgttgaaaTtgtccacggaaagtgagtaa	12	9	10	10	2	0	2	0	2	0	0	3	4	2	4	4	2	0	2	4	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:45267271T>A	ENST00000303230.4	-	7	1760	c.1703A>T	c.(1702-1704)aAt>aTt	p.N568I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	568					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCGTTGAAATTGTCCACGGA	0.433																																																	0													157	144	148					5																	45267271		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1703A>T	5.37:g.45267271T>A	ENSP00000307342:p.Asn568Ile			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.N568I	ENST00000303230.4	37	c.1703	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	T	33	5.241821	0.95272	.	.	ENSG00000164588	ENST00000303230	D	0.92545	-3.06	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.92734	0.7690	L	0.56280	1.765	0.58432	D	0.999994	P	0.49696	0.927	P	0.50082	0.63	D	0.93433	0.6787	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	568	O60741	HCN1_HUMAN	I	568	ENSP00000307342:N568I	ENSP00000307342:N568I	N	-	2	0	HCN1	45303028	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.698000	0.84413	2.269000	0.75478	0.533000	0.62120	AAT	HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000164588		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	90	0	T	NM_021072		45267271	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	22.37	118	34	SNP	1.000	A	A	45267271	T	A	45267271	3	1	58	1	0	0	0	0	1	0	0	0	7023	1493	52	5	977	5	HCN1	5	45267271	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	4776	45267271	135647989	674	15057											
ITGA2	3673	genome.wustl.edu	37	chr5	52351981	52351982	+	Splice_Site	INS	-	-	A																															aaattttcagcattgaaggtINSaaaaaaaataacctcctttc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:52351981_52351982insA	ENST00000296585.5	+	9	1239		c.e9+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATTGAAGGTAAAAAAAATAA	0.292																																																	0																																										SO:0001630	splice_region_variant	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1096+2->A	5.37:g.52351989_52351989dupA			Q14595	Splice_Site	INS	-	e9+2	ENST00000296585.5	37	c.1096+2_1096+1	CCDS3957.1	5																																																																																			ITGA2	-	-	ENSG00000164171		0.292	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2		0	21	0	-	NM_002203	Intron	52351982	1	tier1		no_errors	ENST00000296585	ensembl	human	known	74_37	splice_site_ins	34.48	19	10	INS	1.000:1.000	A	A	52351982	-	A	52351981	8	5	58	1	0	1	1	0	0	0	1	0	7902	1652	57	0	1132	0	ITGA2	5	52351981	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	7084710	52351981	128563279	675	15058											
ITGA2	3673	genome.wustl.edu	37	chr5	52369001	52369001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggttaacattttcagtaaCgctgaaaaataaaagggaaa	20	9	8	4	1	1	1	1	1	0	0	1	2	1	2	0	2	2	3	0	2	8	5	rs79932422	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:52369001C>T	ENST00000296585.5	+	20	2626	c.2483C>T	c.(2482-2484)aCg>aTg	p.T828M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	828					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTTCAGTAACGCTGAAAAAT	0.353																																																	0			GRCh37	CP995097	ITGA2	M	rs79932422	C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	118	113	114		2483	-0.4	0.5	5	dbSNP_131	114	13,8587	9.8+/-36.6	0,13,4287	yes	missense	ITGA2	NM_002203.3	81	0,15,6488	TT,TC,CC		0.1512,0.0454,0.1153	benign	828/1182	52369001	15,12991	2203	4300	6503	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2483C>T	5.37:g.52369001C>T	ENSP00000296585:p.Thr828Met		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.T828M	ENST00000296585.5	37	c.2483	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080213	0.20309	4.54E-4	0.001512	ENSG00000164171	ENST00000296585	T	0.54479	0.57	5.87	-0.451	0.12214	Integrin alpha-2 (1);	0.669254	0.15498	N	0.259149	T	0.34919	0.0914	L	0.46157	1.445	0.09310	N	0.999998	P;P	0.44946	0.846;0.636	B;B	0.32624	0.149;0.117	T	0.19910	-1.0291	10	0.49607	T	0.09	.	7.1852	0.25795	0.4073:0.4129:0.0:0.1798	.	828;828	E7ESP4;P17301	.;ITA2_HUMAN	M	828	ENSP00000296585:T828M	ENSP00000296585:T828M	T	+	2	0	ITGA2	52404758	0.002000	0.14202	0.505000	0.27651	0.484000	0.33280	0.199000	0.17237	-0.065000	0.13021	0.655000	0.94253	ACG	ITGA2	-	pfam_Integrin_alpha-2	ENSG00000164171		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	-	0	46	0	C	NM_002203		52369001	1	tier1	rs79932422	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	48.89	23	22	SNP	0.159	T	T	52369001	C	T	52369001	3	4	58	1	0	0	0	0	1	0	0	0	7902	536	19	1	2561	1	ITGA2	5	52369001	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	17020	52369001	128546259	676	15059											
GZMK	3003	genome.wustl.edu	37	chr5	54326289	54326289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggccagtctcccactgtGgttttaggcgcacactctct	8	11	9	13	1	2	0	0	0	2	0	4	0	2	0	2	3	0	2	2	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:54326289G>A	ENST00000231009.2	+	3	310	c.240G>A	c.(238-240)gtG>gtA	p.V80V	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	80	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCCCACTGTGGTTTTAGGCG	0.433																																																	0													133	128	130					5																	54326289		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"granzyme K (serine protease, granzyme 3; tryptase II)"			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.240G>A	5.37:g.54326289G>A			B2R563	Silent	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V80	ENST00000231009.2	37	c.240	CCDS3964.1	5																																																																																			GZMK	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000113088		0.433	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1	-	0	109	0	G	NM_002104		54326289	1	tier1	-	no_errors	ENST00000231009	ensembl	human	known	74_37	silent	43.61	75	58	SNP	1.000	A	A	54326289	G	A	54326289	2	1	58	1	0	0	0	0	0	0	0	1	6945	1335	47	3		3	GZMK	5	54326289	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1957288	54326289	126588971	677	15060											
MAP3K1	4214	genome.wustl.edu	37	chr5	56177848	56177849	+	In_Frame_Ins	INS	-	-	CAA																															ttcagtaggaccttctagttINScaacaacaacaacaacaaca																								rs570353965|rs10552703|rs398064829|rs5868032|rs532800605	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:56177848_56177849insCAA	ENST00000399503.3	+	14	2821_2822	c.2821_2822insCAA	c.(2821-2823)tca>tCAAca	p.949_950insT		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	949	Poly-Thr.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCTTCTAGTTcaacaacaaca	0.416																																																	0																																										SO:0001652	inframe_insertion	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2843_2845dupCAA	5.37:g.56177855_56177857dupCAA	ENSP00000382423:p.Thr949_Thr949dup			In_Frame_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.945in_frame_insT	ENST00000399503.3	37	c.2821_2822	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.416	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2		0	25	0	-	XM_042066		56177849	1	tier1		no_errors	ENST00000399503	ensembl	human	novel	74_37	in_frame_ins	19.35	25	6	INS	0.964:0.958	CAA	CAA	56177849	-	CAA	56177848	7	5	58	1	0	1	1	0	0	0	0	0	9281	1783	62	0	2875	0	MAP3K1	5	56177848	In_Frame_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1851559	56177848	124737412	678	15061											
CWC27	10283	genome.wustl.edu	37	chr5	64181325	64181326	+	Frame_Shift_Ins	INS	-	-	A																															ggaactcttagcagcaaaacINSaaaaaaaagtagaaaatgca																								rs199655070		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:64181325_64181326insA	ENST00000381070.3	+	11	1211_1212	c.994_995insA	c.(994-996)caafs	p.Q332fs	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	332					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCAGCAAAACAAAAAAAAGTA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1002dupA	5.37:g.64181333_64181333dupA	ENSP00000370460:p.Gln332fs		O60529|O60530|Q96EM3	Frame_Shift_Ins	INS	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V335fs	ENST00000381070.3	37	c.994_995	CCDS3982.2	5																																																																																			CWC27	-	NULL	ENSG00000153015		0.322	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC27	HGNC	protein_coding	OTTHUMT00000157247.4		0	40	0	-	NM_005869		64181326	1	tier1		no_errors	ENST00000381070	ensembl	human	known	74_37	frame_shift_ins	26.09	34	12	INS	1.000:1.000	A	A	64181326	-	A	64181325	7	5	58	1	0	1	1	0	0	0	0	0	4079	479	17	0	1036	0	CWC27	5	64181325	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	8003477	64181325	116733935	679	15062											
NLN	57486	genome.wustl.edu	37	chr5	65088303	65088303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggaaaatacaatcatgcgGcctgcttcggtctccagcct	11	9	9	12	2	2	0	1	0	1	0	4	1	2	1	3	3	4	1	3	3	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:65088303G>A	ENST00000380985.5	+	9	1526	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	NLN_ENST00000502464.1_Missense_Mutation_p.A346T	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	450						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CAATCATGCGGCCTGCTTCGG	0.557																																																	0													102	99	100					5																	65088303		2203	4300	6503	SO:0001583	missense	0			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1348G>A	5.37:g.65088303G>A	ENSP00000370372:p.Ala450Thr		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.A450T	ENST00000380985.5	37	c.1348	CCDS3989.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.536807|5.536807	0.96460|0.96460	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.14391|.	2.51;2.51;2.51|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Metallopeptidase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86981|0.86981	0.6064|0.6064	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.979;0.993;0.999|.	D|D	0.89136|0.89136	0.3513|0.3513	10|5	0.52906|.	T|.	0.07|.	-12.2455|-12.2455	20.0079|20.0079	0.97439|0.97439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	145;450;450|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	T|D	450;346;450;178|46	ENSP00000370372:A450T;ENSP00000423214:A346T;ENSP00000427417:A178T|.	ENSP00000339283:A450T|.	A|G	+|+	1|2	0|0	NLN|NLN	65124059|65124059	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.873000|0.873000	0.50193|0.50193	9.420000|9.420000	0.97426|0.97426	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GCC|GGC	NLN	-	pfam_Pept_M3A_M3B	ENSG00000123213		0.557	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	-	0	30	0	G			65088303	1	tier1	-	no_errors	ENST00000380985	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	A	A	65088303	G	A	65088303	3	1	58	1	0	0	0	0	1	0	0	0	10506	1203	42	3	1382	3	NLN	5	65088303	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	906978	65088303	115826957	680	15063											
OCLN	100506658	genome.wustl.edu	37	chr5	68805316	68805316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctacggaggctatacagaCccaagagcagcaaagggctt	13	5	13	10	1	0	2	0	0	0	2	0	3	0	3	1	4	4	5	1	4	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:68805316C>T	ENST00000355237.2	+	3	835	c.399C>T	c.(397-399)gaC>gaT	p.D133D	OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Silent_p.D133D|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Silent_p.D133D	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	133	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTATACAGACCCAAGAGCAG	0.483																																																	0													138	100	113					5																	68805316		2203	4300	6503	SO:0001819	synonymous_variant	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.399C>T	5.37:g.68805316C>T			B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin	p.D133	ENST00000355237.2	37	c.399	CCDS4006.1	5																																																																																			OCLN	-	pfam_Marvel,pirsf_Occludin	ENSG00000197822		0.483	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0	100	0	C	NM_002538		68805316	1	tier1	-	no_errors	ENST00000355237	ensembl	human	known	74_37	silent	43.21	46	35	SNP	0.998	T	T	68805316	C	T	68805316	2	4	58	1	0	0	0	0	0	0	0	1	10859	506	18	3		3	OCLN	5	68805316	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3717013	68805316	112109944	681	15064											
MAP1B	4131	genome.wustl.edu	37	chr5	71494172	71494172	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttgctatggacttcagtCgacagtctccagatcaccct	8	11	7	15	1	3	1	2	0	1	1	5	3	3	2	3	1	1	1	3	1	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:71494172C>T	ENST00000296755.7	+	5	5288	c.4990C>T	c.(4990-4992)Cga>Tga	p.R1664*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1664					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGACTTCAGTCGACAGTCTCC	0.498																																					Melanoma(17;367 822 11631 31730 47712)												0													103	103	103					5																	71494172		2203	4300	6503	SO:0001587	stop_gained	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4990C>T	5.37:g.71494172C>T	ENSP00000296755:p.Arg1664*		A2BDK5	Nonsense_Mutation	SNP	pfam_MAP1B_neuraxin	p.R1664*	ENST00000296755.7	37	c.4990	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.721844	0.99595	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.02	2.85	0.33270	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0619	11.5078	0.50476	0.6016:0.3984:0.0:0.0	.	.	.	.	X	1664	.	ENSP00000296755:R1664X	R	+	1	2	MAP1B	71529928	0.991000	0.36638	0.972000	0.41901	0.979000	0.70002	2.961000	0.49168	1.207000	0.43291	0.462000	0.41574	CGA	MAP1B	-	NULL	ENSG00000131711		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0	29	0	C	NM_005909		71494172	1			no_errors	ENST00000296755	ensembl	human	known	74_37	nonsense	17.65	14	3	SNP	1.000	T	T	71494172	C	T	71494172	4	4	58	1	0	0	0	0	0	1	0	0	9266	876	31	1	5008	1	MAP1B	5	71494172	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2688856	71494172	109421088	682	15065											
FOXD1	2297	genome.wustl.edu	37	chr5	72744084	72744086	+	In_Frame_Del	DEL	TCC	TCC	-																															caccgccgccctcgtcgtcgTcctcctcttcctcgtcttct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:72744084_72744086delTCC	ENST00000499003.3	-	1	266_268	c.102_104delGGA	c.(100-105)gaggac>gac	p.E34del	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	34	Poly-Glu.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		ctcgtcgtcgtcctcctcttcct	0.709																																																	0										10,3324		5,0,1662						-1.3	1			34	18,7122		8,2,3560	no	coding	FOXD1	NM_004472.2		13,2,5222	A1A1,A1R,RR		0.2521,0.2999,0.2673				28,10446				SO:0001651	inframe_deletion	0			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"Forkhead boxes"	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.102_104delGGA	5.37:g.72744087_72744089delTCC	ENSP00000462795:p.Glu34del		Q12949	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E34in_frame_del	ENST00000499003.3	37	c.104_102		5																																																																																			FOXD1	-	NULL	ENSG00000251493		0.709	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	FOXD1	HGNC	protein_coding	OTTHUMT00000369154.2		0	20	0	TCC	NM_004472		72744086	-1	tier1		no_errors	ENST00000499003	ensembl	human	known	74_37	in_frame_del	33.33	16	8	DEL	0.996:0.998:0.999	-	-	72744086	TCC	-	72744084	7	5	58	1	0	1	0	1	0	0	0	0	6018	1667	58	0	1295	0	FOXD1	5	72744084	In_Frame_Del	DEL	TCC	TCGA-L5-A4OI-01A-11D-A27G-09	1249912	72744084	108171176	683	15066											
POC5	134359	genome.wustl.edu	37	chr5	74984889	74984889	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaagatttaatgcacaTacacccctcatgaaagcttt	13	12	5	11	0	2	2	2	1	0	1	2	2	2	2	2	0	3	3	2	0	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:74984889T>C	ENST00000428202.2	-	9	1266	c.1077A>G	c.(1075-1077)gtA>gtG	p.V359V	POC5_ENST00000514838.2_Silent_p.V331V|POC5_ENST00000446329.2_Silent_p.V334V|POC5_ENST00000380475.2_Silent_p.V242V|POC5_ENST00000510798.1_Silent_p.V242V	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	359					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTAATGCACATACACCCCTCA	0.328																																																	0													81	75	77					5																	74984889		1809	4068	5877	SO:0001819	synonymous_variant	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1077A>G	5.37:g.74984889T>C			B4DJG7|Q494X7|Q494X9|Q6P085	Silent	SNP	NULL	p.V359	ENST00000428202.2	37	c.1077	CCDS47236.1	5																																																																																			POC5	-	NULL	ENSG00000152359		0.328	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1	-	0	41	0	T	NM_152408		74984889	-1	tier1	-	no_errors	ENST00000428202	ensembl	human	known	74_37	silent	48.28	30	28	SNP	0.024	C	C	74984889	T	C	74984889	2	2	58	1	0	0	0	0	0	0	0	1	12216	1393	49	4		4	POC5	5	74984889	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2240805	74984889	105930371	684	15067											
F2R	2149	genome.wustl.edu	37	chr5	76028423	76028423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactaaacatcatggccatcGttgtgttcatcctgaaaatg	12	12	7	10	1	2	1	2	1	0	0	4	1	3	1	2	1	1	2	2	1	4	3	rs546007149		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:76028423G>A	ENST00000319211.4	+	2	638	c.373G>A	c.(373-375)Gtt>Att	p.V125I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CATGGCCATCGTTGTGTTCAT	0.522																																																	0													124	125	125					5																	76028423		2203	4300	6503	SO:0001583	missense	0			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.373G>A	5.37:g.76028423G>A	ENSP00000321326:p.Val125Ile		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.V125I	ENST00000319211.4	37	c.373	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.624857	0.00820	.	.	ENSG00000181104	ENST00000319211	T	0.36878	1.23	4.89	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.650953	0.14896	N	0.292094	T	0.16128	0.0388	N	0.25332	0.735	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.30297	-0.9983	10	0.02654	T	1	-4.2923	1.8775	0.03221	0.2889:0.3116:0.2888:0.1107	.	125	P25116	PAR1_HUMAN	I	125	ENSP00000321326:V125I	ENSP00000321326:V125I	V	+	1	0	F2R	76064179	0.000000	0.05858	0.006000	0.13384	0.455000	0.32408	-0.398000	0.07259	0.071000	0.16664	-0.254000	0.11334	GTT	F2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181104		0.522	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	-	0	94	0	G			76028423	1	tier1	-	no_errors	ENST00000319211	ensembl	human	known	74_37	missense	41.58	59	42	SNP	0.000	A	A	76028423	G	A	76028423	3	1	58	1	0	0	0	0	1	0	0	0	5359	1145	40	1	379	1	F2R	5	76028423	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1043534	76028423	104886837	685	15068											
WDR41	55255	genome.wustl.edu	37	chr5	76732211	76732212	+	Frame_Shift_Ins	INS	-	-	A																															cttccaaatccccacatgttINSaaaaaaacctagaaaaagaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:76732211_76732212insA	ENST00000296679.4	-	12	1476_1477	c.1101_1102insT	c.(1099-1104)tttaacfs	p.N368fs	WDR41_ENST00000507029.1_Frame_Shift_Ins_p.N313fs|WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000414719.2_Frame_Shift_Ins_p.N114fs	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	368						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CCCCACATGTTAAAAAAACCTA	0.351																																																	0										0,4266		0,0,2133						5.7	1			97	1,8253		0,1,4126	no	frameshift	WDR41	NM_018268.2		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	0			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"WD repeat domain containing"	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1102dupT	5.37:g.76732218_76732218dupA	ENSP00000296679:p.Asn368fs		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N367fs	ENST00000296679.4	37	c.1102_1101	CCDS4038.1	5																																																																																			WDR41	-	superfamily_WD40_repeat_dom	ENSG00000164253		0.351	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	HGNC	protein_coding	OTTHUMT00000220014.2		0	72	0	-	NM_018268		76732212	-1	tier1		no_errors	ENST00000296679	ensembl	human	known	74_37	frame_shift_ins	31.17	53	24	INS	1.000:1.000	A	A	76732212	-	A	76732211	7	5	58	1	0	1	1	0	0	0	0	0	17343	1754	61	0	285	0	WDR41	5	76732211	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	703788	76732211	104183049	686	15069											
CMYA5	202333	genome.wustl.edu	37	chr5	79026843	79026844	+	Frame_Shift_Ins	INS	-	-	CT																															gtggcccctgcttctgagccINSctctctctcaccatccacaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:79026843_79026844insCT	ENST00000446378.2	+	2	2286_2287	c.2255_2256insCT	c.(2254-2259)ccctctfs	p.PS752fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	752					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCTTCTGAGCCCTCTCTCTCAC	0.5																																																	0																																										SO:0001589	frameshift_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2262_2263dupCT	5.37:g.79026850_79026851dupCT	ENSP00000394770:p.Pro752fs		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S756fs	ENST00000446378.2	37	c.2255_2256	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.5	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0	21	0	-	NM_153610		79026844	1	tier1		no_errors	ENST00000446378	ensembl	human	known	74_37	frame_shift_ins	50.00	12	12	INS	0.000:0.000	CT	CT	79026844	-	CT	79026843	7	5	58	1	0	1	1	0	0	0	0	0	3597	623	22	0	2261	0	CMYA5	5	79026843	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	2294632	79026843	101888417	687	15070											
VCAN	1462	genome.wustl.edu	37	chr5	82786221	82786221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctggcaagtgatgcGggtctttaccgctgtgacgt	7	11	14	9	3	1	2	0	2	1	0	1	2	1	2	1	2	4	4	1	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:82786221G>A	ENST00000265077.3	+	3	940	c.375G>A	c.(373-375)gcG>gcA	p.A125A	VCAN_ENST00000512590.2_Silent_p.A77A|VCAN_ENST00000502527.2_Silent_p.A125A|VCAN_ENST00000343200.5_Silent_p.A125A|VCAN_ENST00000513984.1_Silent_p.A125A|VCAN_ENST00000342785.4_Silent_p.A125A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	125	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAGTGATGCGGGTCTTTACC	0.527																																																	0													146	140	142					5																	82786221		2203	4300	6503	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.375G>A	5.37:g.82786221G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.A125	ENST00000265077.3	37	c.375	CCDS4060.1	5																																																																																			VCAN	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000038427		0.527	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	30	0	G	NM_004385		82786221	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	40.62	19	13	SNP	0.068	A	A	82786221	G	A	82786221	2	1	58	1	0	0	0	0	0	0	0	1	17187	1103	39	1		1	VCAN	5	82786221	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3759378	82786221	98129039	688	15071											
EDIL3	10085	genome.wustl.edu	37	chr5	83362376	83362376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggcttccaatcctcttgGctccttgggtaatcacacca	7	12	8	14	0	2	0	1	0	1	0	5	0	5	0	4	3	0	3	4	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:83362376G>A	ENST00000296591.5	-	7	1119	c.701C>T	c.(700-702)gCc>gTc	p.A234V	EDIL3_ENST00000380138.3_Missense_Mutation_p.A224V|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	234	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AATCCTCTTGGCTCCTTGGGT	0.373																																																	0													111	124	120					5																	83362376		2203	4300	6503	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.701C>T	5.37:g.83362376G>A	ENSP00000296591:p.Ala234Val		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.A234V	ENST00000296591.5	37	c.701	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.437160	0.96168	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98264	-4.83;-4.83	5.93	5.93	0.95920	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.78049	2.395	0.80722	D	1	P;D;D	0.89917	0.913;0.998;1.0	P;D;D	0.83275	0.736;0.987;0.996	D	0.99585	1.0974	10	0.59425	D	0.04	-21.6639	20.3363	0.98740	0.0:0.0:1.0:0.0	.	11;224;234	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	V	234;224	ENSP00000296591:A234V;ENSP00000369483:A224V	ENSP00000296591:A234V	A	-	2	0	EDIL3	83398132	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GCC	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.373	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0	50	0	G	NM_005711		83362376	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	missense	44.44	35	28	SNP	1.000	A	A	83362376	G	A	83362376	3	1	58	1	0	0	0	0	1	0	0	0	4929	1203	42	3	761	3	EDIL3	5	83362376	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	576155	83362376	97552884	689	15072											
CETN3	1070	genome.wustl.edu	37	chr5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-																															agaatcttcagtacatcagcTttttttacatcaaaccccaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:89701581delT	ENST00000283122.3	-	3	313	c.189delA	c.(187-189)aaafs	p.K63fs	CETN3_ENST00000522842.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522864.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522565.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522083.1_Frame_Shift_Del_p.K63fs	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	63	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GTACATCAGCTTTTTTTACAT	0.308																																																	0													96	95	96					5																	89701581		2202	4299	6501	SO:0001589	frameshift_variant	0			Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"EF-hand domain containing"	1868	protein-coding gene	gene with protein product	"CDC31 yeast homolog", "EF-hand superfamily member"	602907	"centrin, EF-hand protein, 3 (CDC31 yeast homolog)"			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.189delA	5.37:g.89701581delT	ENSP00000283122:p.Lys63fs		Q53YD2|Q9BS23	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A64fs	ENST00000283122.3	37	c.189	CCDS4066.1	5																																																																																			CETN3	-	pfscan_EF_hand_dom	ENSG00000153140		0.308	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN3	HGNC	protein_coding	OTTHUMT00000254097.1		0	66	0	T	NM_004365		89701581	-1	tier1		no_errors	ENST00000283122	ensembl	human	known	74_37	frame_shift_del	30.59	59	26	DEL	1.000	-	-	89701581	T	-	89701581	7	5	58	1	0	1	0	1	0	0	0	0	3283	1606	56	0	326	0	CETN3	5	89701581	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	6339205	89701581	91213679	690	15073											
GPR98	84059	genome.wustl.edu	37	chr5	90124781	90124781	+	Frame_Shift_Del	DEL	T	T	-																															gtaccacaggttgaagtgtaTttttttgtggaactatatga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:90124781delT	ENST00000405460.2	+	77	16485	c.16389delT	c.(16387-16389)tatfs	p.Y5463fs	GPR98_ENST00000425867.2_Frame_Shift_Del_p.Y1124fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5463	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAGTGTATTTTTTTGTGG	0.323																																																	0													69	65	66					5																	90124781		1829	4091	5920	SO:0001589	frameshift_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16389delT	5.37:g.90124781delT	ENSP00000384582:p.Tyr5463fs		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F5465fs	ENST00000405460.2	37	c.16389	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.323	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	28	0	T	NM_032119		90124781	1	tier1		no_errors	ENST00000405460	ensembl	human	known	74_37	frame_shift_del	43.48	13	10	DEL	0.351	-	-	90124781	T	-	90124781	7	5	58	1	0	1	0	1	0	0	0	0	6748	1500	52	0	16695	0	GPR98	5	90124781	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	423200	90124781	90790479	691	15074											
MCTP1	79772	genome.wustl.edu	37	chr5	94050578	94050578	+	Frame_Shift_Del	DEL	T	T	-																															agattttatttataaatcccTttttttcactgtcctaaaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:94050578delT	ENST00000515393.1	-	20	2623	c.2624delA	c.(2623-2625)aagfs	p.K875fs	MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K391fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K568fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K654fs	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	875					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TATAAATCCCTTTTTTTCACT	0.348																																																	0													125	128	127					5																	94050578		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2624delA	5.37:g.94050578delT	ENSP00000424126:p.Lys875fs		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.K875fs	ENST00000515393.1	37	c.2624	CCDS34203.1	5																																																																																			MCTP1	-	pfam_PRibTrfase_C	ENSG00000175471		0.348	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3		0	47	0	T	NM_024717		94050578	-1	tier1		no_errors	ENST00000515393	ensembl	human	known	74_37	frame_shift_del	28.57	55	22	DEL	1.000	-	-	94050578	T	-	94050578	7	5	58	1	0	1	0	1	0	0	0	0	9438	1609	56	0	391	0	MCTP1	5	94050578	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3925797	94050578	86864682	692	15075											
PJA2	9867	genome.wustl.edu	37	chr5	108691648	108691648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctaagcgttcttctagtgCcatgtaggtaaggaactgag	10	11	13	7	1	2	1	0	1	2	0	2	2	2	2	1	3	3	4	1	3	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:108691648C>T	ENST00000361189.2	-	7	1971	c.1732G>A	c.(1732-1734)Gca>Aca	p.A578T	PJA2_ENST00000361557.3_Missense_Mutation_p.A578T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	578	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCTTCTAGTGCCATGTAGGTA	0.378																																																	0													128	129	129					5																	108691648		2202	4300	6502	SO:0001583	missense	0			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"RING-type (C3HC4) zinc fingers"	17481	protein-coding gene	gene with protein product			"ring finger protein 131", "praja ring finger 2"	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1732G>A	5.37:g.108691648C>T	ENSP00000354775:p.Ala578Thr		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A578T	ENST00000361189.2	37	c.1732	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870751	0.91587	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.06768	3.26;3.26	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.17831	0.0428	N	0.17082	0.46	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.06338	-1.0832	10	0.66056	D	0.02	-21.5623	19.2339	0.93850	0.0:1.0:0.0:0.0	.	578	O43164	PJA2_HUMAN	T	578	ENSP00000354775:A578T;ENSP00000355284:A578T	ENSP00000354775:A578T	A	-	1	0	PJA2	108719547	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.913000	0.69957	2.775000	0.95449	0.650000	0.86243	GCA	PJA2	-	NULL	ENSG00000198961		0.378	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	-	0	40	0	C	NM_014819		108691648	-1	tier1	-	no_errors	ENST00000361189	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T	T	108691648	C	T	108691648	3	4	58	1	0	0	0	0	1	0	0	0	12001	739	26	3	410	3	PJA2	5	108691648	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	14641070	108691648	72223612	693	15076											
APC	324	genome.wustl.edu	37	chr5	112154722	112154722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgataaggatgatatgtcGcgaactttgctagctatgtc	11	13	10	7	2	0	2	0	2	0	0	2	4	0	3	0	1	3	2	0	1	5	5	rs148343173		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:112154722G>A	ENST00000457016.1	+	10	1373	c.993G>A	c.(991-993)tcG>tcA	p.S331S	APC_ENST00000257430.4_Silent_p.S331S|APC_ENST00000508376.2_Silent_p.S331S			P25054	APC_HUMAN	adenomatous polyposis coli	331	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGATATGTCGCGAACTTTGC	0.418		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	0								G	,,	2,4402	4.2+/-10.8	0,2,2200	194	169	178		993,993,939	-4.2	1	5	dbSNP_134	178	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	,,	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	,,	331/2844,331/2844,313/2826	112154722	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.993G>A	5.37:g.112154722G>A			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S331	ENST00000457016.1	37	c.993	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0	60	0	G	NM_000038		112154722	1	tier1	rs148343173	no_errors	ENST00000257430	ensembl	human	known	74_37	silent	35.09	37	20	SNP	0.109	A	A	112154722	G	A	112154722	2	1	58	1	0	0	0	0	0	0	0	1	763	1074	38	1		1	APC	5	112154722	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3463074	112154722	68760538	694	15077											
AQPEP	206338	genome.wustl.edu	37	chr5	115327857	115327857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttttgacaaccatgcaatGgaaaactggggactaatgat	15	10	10	6	0	0	2	0	2	0	0	0	4	0	4	1	3	3	2	1	3	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:115327857G>T	ENST00000357872.4	+	5	1267	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		381	Substrate binding. {ECO:0000250}.					integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										ACCATGCAATGGAAAACTGGG	0.333																																																	0													121	128	125					5																	115327857		2202	4300	6502	SO:0001583	missense	0																														ENST00000357872.4:c.1143G>T	5.37:g.115327857G>T	ENSP00000350541:p.Met381Ile		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.M381I	ENST00000357872.4	37	c.1143	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875308	0.91664	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05447	3.44	5.81	5.81	0.92471	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.120801	0.56097	D	0.000033	T	0.38612	0.1047	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51395	-0.8711	10	0.87932	D	0	.	18.8499	0.92224	0.0:0.0:1.0:0.0	.	381	Q6Q4G3	AMPQ_HUMAN	I	381;370	ENSP00000350541:M381I	ENSP00000350541:M381I	M	+	3	0	AC010282.1	115355756	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.092000	0.94157	2.736000	0.93811	0.655000	0.94253	ATG	AQPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000172901		0.333	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1	-	0	33	0	G			115327857	1	tier1	-	no_errors	ENST00000357872	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	T	T	115327857	G	T	115327857	3	4	58	1	0	0	0	0	1	0	0	0	834	1348	47	3	1161	3	AQPEP	5	115327857	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3173135	115327857	65587403	695	15078											
HSD17B4	3295	genome.wustl.edu	37	chr5	118809676	118809678	+	In_Frame_Del	DEL	AAG	AAG	-																															gataaggttgttgaagaaatAagaaggagaggtggaaaagc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:118809676_118809678delAAG	ENST00000256216.6	+	3	319_321	c.186_188delAAG	c.(184-189)ataaga>ata	p.R65del	HSD17B4_ENST00000515320.1_In_Frame_Del_p.R47del|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000510025.1_In_Frame_Del_p.R41del|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000504811.1_In_Frame_Del_p.R90del	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	65	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTGAAGAAATAAGAAGGAGAGGT	0.369																																					Colon(35;490 801 34689 41394 43344)												0									,,	0,4264		0,0,2132					,,	5.4	1			93	2,8252		0,2,4125	no	coding,coding,coding	HSD17B4	NM_001199292.1,NM_001199291.1,NM_000414.3	,,	0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016	,,	,,		2,12516				SO:0001651	inframe_deletion	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.186_188delAAG	5.37:g.118809679_118809681delAAG	ENSP00000256216:p.Arg65del		B4DNV1|B4DVS5|E9PB82|F5HE57	In_Frame_Del	DEL	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.R65in_frame_del	ENST00000256216.6	37	c.186_188	CCDS4126.1	5																																																																																			HSD17B4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR	ENSG00000133835		0.369	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3		0	83	0	AAG	NM_000414		118809678	1	tier1		no_errors	ENST00000256216	ensembl	human	known	74_37	in_frame_del	29.89	61	26	DEL	1.000:1.000:1.000	-	-	118809678	AAG	-	118809676	7	5	58	1	0	1	0	1	0	0	0	0	7413	352	13	0	196	0	HSD17B4	5	118809676	In_Frame_Del	DEL	AAG	TCGA-L5-A4OI-01A-11D-A27G-09	3481819	118809676	62105584	696	15079											
HSD17B4	3295	genome.wustl.edu	37	chr5	118865647	118865647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggatcttgcaccaacatCtggtacttcagctaagacac	11	11	8	11	0	3	1	1	0	2	1	3	2	3	2	1	2	4	3	1	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:118865647C>T	ENST00000256216.6	+	21	1959	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F	HSD17B4_ENST00000515320.1_Missense_Mutation_p.S591F|HSD17B4_ENST00000414835.2_Missense_Mutation_p.S469F|HSD17B4_ENST00000513628.1_Missense_Mutation_p.S472F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S585F|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S347F|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S634F	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	609	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GCACCAACATCTGGTACTTCA	0.368																																					Colon(35;490 801 34689 41394 43344)												0													105	99	101					5																	118865647		2202	4300	6502	SO:0001583	missense	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	5213	protein-coding gene	gene with protein product	"17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1"	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1826C>T	5.37:g.118865647C>T	ENSP00000256216:p.Ser609Phe		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S609F	ENST00000256216.6	37	c.1826	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265410	0.40095	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;D;T;T	0.82433	-1.61;-1.29;-1.24;-1.26;-1.58;-1.45;-0.92	5.82	4.95	0.65309	.	0.501324	0.23014	N	0.052939	D	0.85792	0.5779	M	0.81942	2.565	0.41661	D	0.989182	D;P;P;P;P	0.56521	0.976;0.713;0.727;0.877;0.713	P;B;B;B;B	0.50082	0.63;0.311;0.156;0.378;0.311	D	0.86577	0.1851	10	0.62326	D	0.03	-7.5298	8.6431	0.33989	0.1512:0.7715:0.0:0.0772	.	634;591;585;347;609	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	F	609;591;585;634;469;472;347	ENSP00000256216:S609F;ENSP00000424613:S591F;ENSP00000424940:S585F;ENSP00000420914:S634F;ENSP00000411960:S469F;ENSP00000425993:S472F;ENSP00000426272:S347F	ENSP00000256216:S609F	S	+	2	0	HSD17B4	118893546	0.961000	0.32948	0.572000	0.28498	0.218000	0.24690	3.018000	0.49625	1.470000	0.48102	0.591000	0.81541	TCT	HSD17B4	-	NULL	ENSG00000133835		0.368	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	-	0	39	0	C	NM_000414		118865647	1	tier1	-	no_errors	ENST00000256216	ensembl	human	known	74_37	missense	47.83	24	22	SNP	0.766	T	T	118865647	C	T	118865647	3	4	58	1	0	0	0	0	1	0	0	0	7413	913	32	3	1908	3	HSD17B4	5	118865647	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	55971	118865647	62049613	697	15080											
FTMT	94033	genome.wustl.edu	37	chr5	121187966	121187966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggcctattacttctcccGggatgacgtggccttgaaca	8	11	10	12	2	1	2	0	2	1	0	2	3	1	3	3	3	2	0	3	3	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:121187966G>A	ENST00000321339.1	+	1	317	c.308G>A	c.(307-309)cGg>cAg	p.R103Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	103	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TACTTCTCCCGGGATGACGTG	0.572																																																	0													83	66	72					5																	121187966		2203	4300	6503	SO:0001583	missense	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.308G>A	5.37:g.121187966G>A	ENSP00000313691:p.Arg103Gln			Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.R103Q	ENST00000321339.1	37	c.308	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987843	0.74589	.	.	ENSG00000181867	ENST00000321339	T	0.70164	-0.46	3.57	3.57	0.40892	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.64402	D	0.000001	T	0.67646	0.2915	M	0.69358	2.11	0.58432	D	0.999993	P	0.52692	0.955	P	0.45998	0.5	T	0.74115	-0.3769	10	0.62326	D	0.03	.	13.4949	0.61419	0.0:0.0:1.0:0.0	.	103	Q8N4E7	FTMT_HUMAN	Q	103	ENSP00000313691:R103Q	ENSP00000313691:R103Q	R	+	2	0	FTMT	121215865	1.000000	0.71417	0.663000	0.29738	0.977000	0.68977	5.929000	0.70096	2.294000	0.77228	0.655000	0.94253	CGG	FTMT	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000181867		0.572	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1	-	0	47	0	G	NM_177478		121187966	1	tier1	-	no_errors	ENST00000321339	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.999	A	A	121187966	G	A	121187966	3	1	58	1	0	0	0	0	1	0	0	0	6109	1116	39	1	310	1	FTMT	5	121187966	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2322319	121187966	59727294	698	15081											
FBN2	2201	genome.wustl.edu	37	chr5	127607801	127607801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggttcccatcacatTcatcaacatctgcaaaaaca	14	10	4	13	0	4	0	3	0	1	0	5	0	5	0	2	1	3	2	2	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:127607801T>C	ENST00000508053.1	-	68	8824	c.7850A>G	c.(7849-7851)gAa>gGa	p.E2617G	FBN2_ENST00000262464.4_Missense_Mutation_p.E2617G			P35556	FBN2_HUMAN	fibrillin 2	2617	EGF-like 45; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCATCACATTCATCAACATC	0.478																																																	0													101	88	93					5																	127607801		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7850A>G	5.37:g.127607801T>C	ENSP00000424571:p.Glu2617Gly		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E2617G	ENST00000508053.1	37	c.7850	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780872	0.90195	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.98849	-5.18;-5.18	4.98	4.98	0.66077	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000012	D	0.99184	0.9717	M	0.89030	3	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	D	0.99316	1.0905	10	0.87932	D	0	.	15.1274	0.72494	0.0:0.0:0.0:1.0	.	2617	P35556	FBN2_HUMAN	G	2617	ENSP00000262464:E2617G;ENSP00000424571:E2617G	ENSP00000262464:E2617G	E	-	2	0	FBN2	127635700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.825000	0.86693	2.216000	0.71823	0.533000	0.62120	GAA	FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000138829		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	48	0	T	NM_001999		127607801	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	56.00	22	28	SNP	1.000	C	C	127607801	T	C	127607801	3	2	58	1	0	0	0	0	1	0	0	0	5725	1783	62	4	904	4	FBN2	5	127607801	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	6419835	127607801	53307459	699	15082											
FBN2	2201	genome.wustl.edu	37	chr5	127638705	127638705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagttcaaaccctgggtaGcacagacagttataggatcc	12	9	11	9	0	1	2	1	1	0	1	2	3	2	3	2	2	2	4	2	2	4	4	rs528504682		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:127638705G>A	ENST00000508053.1	-	52	6851	c.5877C>T	c.(5875-5877)tgC>tgT	p.C1959C	FBN2_ENST00000262464.4_Silent_p.C1959C			P35556	FBN2_HUMAN	fibrillin 2	1959	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCCTGGGTAGCACAGACAGT	0.388													G|||	1	0.000199681	8e-04	0	5008	,	,		15652	0		0	False		,,,				2504	0																0													144	151	149					5																	127638705		2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5877C>T	5.37:g.127638705G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C1959	ENST00000508053.1	37	c.5877	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.388	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	44	0	G	NM_001999		127638705	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	55.56	24	30	SNP	1.000	A	A	127638705	G	A	127638705	2	1	58	1	0	0	0	0	0	0	0	1	5725	963	34	3		3	FBN2	5	127638705	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	30904	127638705	53276555	700	15083											
FBN2	2201	genome.wustl.edu	37	chr5	127873215	127873215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggaggctgaggctggcCggccgtgccctgcgcccaga	5	4	18	14	4	0	2	0	1	0	1	0	4	0	4	4	6	2	2	4	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:127873215C>T	ENST00000508053.1	-	7	1056	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	FBN2_ENST00000262464.4_Missense_Mutation_p.G28S|FBN2_ENST00000508989.1_Missense_Mutation_p.G28S			P35556	FBN2_HUMAN	fibrillin 2	28					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAGGCTGGCCGGCCGTGCCC	0.711																																																	0													12	13	13					5																	127873215		2145	4217	6362	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.82G>A	5.37:g.127873215C>T	ENSP00000424571:p.Gly28Ser		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G28S	ENST00000508053.1	37	c.82	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762388	0.49468	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86562	-1.84;-1.84;-2.14;-0.68	4.77	0.862	0.19056	.	0.687434	0.13026	N	0.419661	T	0.70369	0.3216	N	0.08118	0	0.21220	N	0.99975	B;B;B;B	0.10296	0.001;0.001;0.003;0.002	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.53514	-0.8428	10	0.14252	T	0.57	.	9.1831	0.37154	0.0:0.5932:0.0:0.4068	.	28;28;28;28	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	S	28	ENSP00000262464:G28S;ENSP00000424571:G28S;ENSP00000425596:G28S;ENSP00000424753:G28S	ENSP00000262464:G28S	G	-	1	0	FBN2	127901114	0.018000	0.18449	0.288000	0.24862	0.994000	0.84299	0.105000	0.15333	0.172000	0.19760	0.591000	0.81541	GGC	FBN2	-	pirsf_FBN	ENSG00000138829		0.711	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	24	0	C	NM_001999		127873215	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	52.38	10	11	SNP	0.089	T	T	127873215	C	T	127873215	3	4	58	1	0	0	0	0	1	0	0	0	5725	652	23	1	8916	1	FBN2	5	127873215	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	234510	127873215	53042045	701	15084											
PDLIM4	8572	genome.wustl.edu	37	chr5	131607782	131607782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatgtgcagtgactgcGgcctgaacctcaagcagcgt	8	9	12	12	2	2	2	2	2	0	0	2	2	2	2	2	1	5	3	2	1	2	1	rs202040278		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:131607782G>A	ENST00000253754.3	+	7	917	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	PDLIM4_ENST00000379018.3_Silent_p.A245A|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	285	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTGACTGCGGCCTGAACCT	0.617																																																	0													147	110	122					5																	131607782		2203	4300	6503	SO:0001583	missense	0			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.853G>A	5.37:g.131607782G>A	ENSP00000253754:p.Gly285Ser		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.G285S	ENST00000253754.3	37	c.853	CCDS4152.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.182998	0.94885	.	.	ENSG00000131435	ENST00000253754	D	0.87412	-2.25	5.05	5.05	0.67936	Zinc finger, LIM-type (5);	0.055732	0.64402	D	0.000001	D	0.93380	0.7889	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.94218	0.7465	9	0.72032	D	0.01	-19.3694	18.406	0.90536	0.0:0.0:1.0:0.0	.	285	P50479	PDLI4_HUMAN	S	285	ENSP00000253754:G285S	ENSP00000253754:G285S	G	+	1	0	PDLIM4	131635681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.789000	0.75110	2.329000	0.79093	0.655000	0.94253	GGC	PDLIM4	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000131435		0.617	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM4	HGNC	protein_coding	OTTHUMT00000132644.2	-	0	46	0	G	NM_003687		131607782	1	tier1	rs202040278	no_errors	ENST00000253754	ensembl	human	known	74_37	missense	48.28	15	14	SNP	1.000	A	A	131607782	G	A	131607782	3	1	58	1	0	0	0	0	1	0	0	0	11721	1116	39	1	879	1	PDLIM4	5	131607782	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3734567	131607782	49307478	702	15085											
PHF15	23338	genome.wustl.edu	37	chr5	133897992	133897992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccccaagcgaggaggaGccttgaagcccactagaagt	11	6	12	12	1	1	2	0	1	1	1	1	5	1	4	4	2	4	0	4	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:133897992G>T	ENST00000402835.1	+	7	1042	c.787G>T	c.(787-789)Gcc>Tcc	p.A263S	PHF15_ENST00000361895.2_Missense_Mutation_p.A263S|PHF15_ENST00000282605.4_Missense_Mutation_p.A263S|PHF15_ENST00000395003.1_Missense_Mutation_p.A263S																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGAGGAGGAGCCTTGAAGCC	0.622																																																	0													88	80	83					5																	133897992		2203	4300	6503	SO:0001583	missense	0																														ENST00000402835.1:c.787G>T	5.37:g.133897992G>T	ENSP00000384671:p.Ala263Ser			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A263S	ENST00000402835.1	37	c.787		5	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022805	0.93462	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.84	5.84	0.93424	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.997;1.0;1.0;0.999;0.995	T	0.62868	-0.6763	10	0.87932	D	0	.	20.1432	0.98067	0.0:0.0:1.0:0.0	.	263;263;263;263;279	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	S	263;279;263;263;263;263;263	ENSP00000282605:A263S;ENSP00000354425:A263S;ENSP00000384671:A263S;ENSP00000378451:A263S	ENSP00000282605:A263S	A	+	1	0	PHF15	133925891	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	9.869000	0.99810	2.769000	0.95229	0.561000	0.74099	GCC	PHF15	-	superfamily_Znf_FYVE_PHD	ENSG00000043143		0.622	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	-	0	89	0	G			133897992	1	tier1	-	no_errors	ENST00000395003	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	133897992	G	T	133897992	3	4	58	1	0	0	0	0	1	0	0	0	11865	971	34	3	809	3	PHF15	5	133897992	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2290210	133897992	47017268	703	15086											
PHF15	23338	genome.wustl.edu	37	chr5	133914940	133914940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtagaggccgaggacggtgGggtgcagcggggtccccggg	5	5	22	9	4	0	1	0	0	0	1	1	3	1	2	3	8	2	2	3	8	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:133914940G>T	ENST00000282605.4	+	12	2524	c.2438G>T	c.(2437-2439)gGg>gTg	p.G813V	PHF15_ENST00000361895.2_Missense_Mutation_p.G770V|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Missense_Mutation_p.G769V																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGACGGTGGGGTGCAGCGG	0.642																																																	0													48	48	48					5																	133914940		2203	4300	6503	SO:0001583	missense	0																														ENST00000282605.4:c.2438G>T	5.37:g.133914940G>T	ENSP00000282605:p.Gly813Val			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G769V	ENST00000282605.4	37	c.2306		5	.	.	.	.	.	.	.	.	.	.	G	9.341	1.063009	0.19987	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.42513	0.99;0.97;0.97	5.16	4.27	0.50696	.	0.180261	0.38058	N	0.001829	T	0.27134	0.0665	N	0.08118	0	0.43403	D	0.995536	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.19391	0.015;0.015;0.025	T	0.07046	-1.0793	10	0.66056	D	0.02	.	15.4498	0.75265	0.0:0.1394:0.8606:0.0	.	769;770;829	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	V	772;829;813;770;770;769	ENSP00000282605:G813V;ENSP00000354425:G770V;ENSP00000378451:G769V	ENSP00000282605:G813V	G	+	2	0	PHF15	133942839	1.000000	0.71417	0.987000	0.45799	0.799000	0.45148	3.093000	0.50217	1.152000	0.42452	0.313000	0.20887	GGG	PHF15	-	NULL	ENSG00000043143		0.642	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1		0	45	0	G			133914940	1			no_errors	ENST00000395003	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.880	T	T	133914940	G	T	133914940	3	4	58	1	0	0	0	0	1	0	0	0	11865	1232	43	3	2344	3	PHF15	5	133914940	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	16948	133914940	47000320	704	15087											
SPOCK1	6695	genome.wustl.edu	37	chr5	136476303	136476303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggctgacacacagggCggtctggtagtcctgggtca	6	9	15	11	2	2	1	1	1	1	0	3	1	3	1	1	5	1	2	1	5	1	2	rs151283855		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:136476303C>T	ENST00000394945.1	-	4	482	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A105T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	105					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACACACAGGGCGGTCTGGTAG	0.607													C|||	1	0.000199681	8e-04	0	5008	,	,		12833	0		0	False		,,,				2504	0																0								C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	64	53	56		313	5.7	0.9	5	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SPOCK1	NM_004598.3	58	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	105/440	136476303	6,13000	2203	4300	6503	SO:0001583	missense	0			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.313G>A	5.37:g.136476303C>T	ENSP00000378401:p.Ala105Thr		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.A105T	ENST00000394945.1	37	c.313	CCDS4191.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.407381	0.96051	0.001135	1.16E-4	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	T;T;T	0.59906	0.23;0.23;0.23	5.74	5.74	0.90152	.	0.061993	0.64402	D	0.000004	T	0.75838	0.3904	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77629	-0.2516	10	0.87932	D	0	.	17.4147	0.87496	0.0:1.0:0.0:0.0	.	105	Q08629	TICN1_HUMAN	T	105	ENSP00000378401:A105T;ENSP00000282223:A105T;ENSP00000424517:A105T	ENSP00000282223:A105T	A	-	1	0	SPOCK1	136504202	1.000000	0.71417	0.915000	0.36163	0.979000	0.70002	7.593000	0.82686	2.704000	0.92352	0.650000	0.86243	GCC	SPOCK1	-	NULL	ENSG00000152377		0.607	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	HGNC	protein_coding	OTTHUMT00000251222.1	-	0	83	0	C	NM_004598		136476303	-1	tier1	rs151283855	no_errors	ENST00000282223	ensembl	human	known	74_37	missense	36.78	54	32	SNP	1.000	T	T	136476303	C	T	136476303	3	4	58	1	0	0	0	0	1	0	0	0	15126	768	27	1	1038	1	SPOCK1	5	136476303	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2561363	136476303	44438957	705	15088											
ANKHD1	54882	genome.wustl.edu	37	chr5	139781739	139781739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagcagcggcggcggcGgcagcggcagcggtacgggc	5	2	21	13	8	0	0	0	0	0	0	1	0	0	0	0	8	5	5	0	8	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:139781739G>A	ENST00000360839.2	+	1	341	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	ANKHD1_ENST00000394723.3_Missense_Mutation_p.G63S|CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G63S|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G63S|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G63S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	63	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcggcggcggcagcggcag	0.746																																																	0													4	7	6					5																	139781739		1893	3713	5606	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.187G>A	5.37:g.139781739G>A	ENSP00000354085:p.Gly63Ser		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.G63S	ENST00000360839.2	37	c.187	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	-	11.80	1.745814	0.30955	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.72505	-0.24;-0.3;-0.3;-0.37;-0.66;-0.34;-0.3	1.26	0.0651	0.14355	.	0.267991	0.25654	N	0.029190	T	0.62295	0.2416	N	0.14661	0.345	0.22066	N	0.999386	D;B;B;B;B	0.71674	0.998;0.001;0.001;0.13;0.21	D;B;B;B;B	0.65443	0.935;0.0;0.0;0.013;0.013	T	0.54357	-0.8306	10	0.48119	T	0.1	.	3.554	0.07857	0.3196:0.0:0.6804:0.0	.	63;63;63;63;63	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	S	63;77;63;63;63;63;63;63;63	ENSP00000354085:G63S;ENSP00000297183:G63S;ENSP00000394489:G63S;ENSP00000378212:G63S;ENSP00000421069:G63S;ENSP00000378211:G63S;ENSP00000432016:G63S	ENSP00000432016:G63S	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139761923	0.968000	0.33430	0.966000	0.40874	0.251000	0.25915	0.000000	0.12993	-0.376000	0.07943	0.000000	0.15137	GGC	ANKHD1	-	NULL	ENSG00000131503		0.746	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0	16	0	G	NM_017747		139781739	1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.592	A	A	139781739	G	A	139781739	3	1	58	1	0	0	0	0	1	0	0	0	628	1116	39	1	189	1	ANKHD1	5	139781739	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3305436	139781739	41133521	706	15089											
PCDHA1	56147	genome.wustl.edu	37	chr5	140167669	140167669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaggtgcgcgcagtggaCgccgactcgggctacaacgc	8	4	16	13	7	0	0	0	0	0	0	1	3	0	1	1	3	3	2	1	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140167669C>T	ENST00000504120.2	+	1	1794	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.D598D	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTGGACGCCGACTCGG	0.672																																																	0													102	97	99					5																	140167669		2202	4299	6501	SO:0001819	synonymous_variant	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1794C>T	5.37:g.140167669C>T			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D598	ENST00000504120.2	37	c.1794	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204970		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	-	0	213	0	C	NM_018900		140167669	1	tier1	-	no_errors	ENST00000504120	ensembl	human	known	74_37	silent	44.97	102	85	SNP	0.949	T	T	140167669	C	T	140167669	2	4	58	1	0	0	0	0	0	0	0	1	11558	535	19	1		1	PCDHA1	5	140167669	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	385930	140167669	40747591	707	15090											
PCDHA3	56145	genome.wustl.edu	37	chr5	140180927	140180927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttcgtgggccgcatcGcgcaggacctggggctggag	5	6	17	13	4	0	0	0	0	0	0	2	2	0	2	3	5	0	4	3	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140180927G>A	ENST00000522353.2	+	1	145	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A49T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A49T(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCGCAGGACCT	0.652																																																	2	Substitution - Missense(2)	large_intestine(2)											51	61	58					5																	140180927		2203	4300	6503	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.145G>A	5.37:g.140180927G>A	ENSP00000429808:p.Ala49Thr		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A49T	ENST00000522353.2	37	c.145	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	19.66	3.868920	0.72065	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.55413	0.52;0.52	4.48	3.61	0.41365	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.38663	U	0.001605	T	0.69708	0.3141	M	0.85542	2.76	0.36226	D	0.852295	D;D	0.76494	0.985;0.999	B;P	0.58454	0.408;0.839	T	0.80390	-0.1402	10	0.72032	D	0.01	.	12.8043	0.57605	0.081:0.0:0.919:0.0	.	49;49	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	49	ENSP00000429808:A49T;ENSP00000434086:A49T	ENSP00000429808:A49T	A	+	1	0	PCDHA3	140161111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.367000	0.73099	1.029000	0.39812	0.586000	0.80456	GCG	PCDHA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.652	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0	108	0	G	NM_018906		140180927	1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	39.45	66	43	SNP	1.000	A	A	140180927	G	A	140180927	3	1	58	1	0	0	0	0	1	0	0	0	11564	1087	38	1	147	1	PCDHA3	5	140180927	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	13258	140180927	40734333	708	15091											
PCDHA3	56145	genome.wustl.edu	37	chr5	140182156	140182156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccggcattctcgcagtcCgagtacacggtgttcgtgaa	7	9	13	12	6	1	1	0	1	1	0	4	2	2	1	2	2	1	4	2	2	2	3	rs377430096		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140182156C>T	ENST00000522353.2	+	1	1374	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S458S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	458	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGCAGTCCGAGTACACGG	0.667																																																	0													91	92	92					5																	140182156		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1374C>T	5.37:g.140182156C>T			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S458	ENST00000522353.2	37	c.1374	CCDS54915.1	5																																																																																			PCDHA3	-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000255408		0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0	217	0	C	NM_018906		140182156	1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	silent	47.17	112	100	SNP	0.001	T	T	140182156	C	T	140182156	2	4	58	1	0	0	0	0	0	0	0	1	11564	639	23	1		1	PCDHA3	5	140182156	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1229	140182156	40733104	709	15092											
PCDHA8	56140	genome.wustl.edu	37	chr5	140221181	140221181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattctcggatcgaccGcgaggagctgtgcgggcgga	7	8	17	9	6	1	1	0	1	1	0	3	6	1	4	1	4	2	1	1	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140221181G>A	ENST00000531613.1	+	1	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R92H|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R92H(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGCGAGGAGCTG	0.602																																																	4	Substitution - Missense(4)	lung(4)											69	92	84					5																	140221181		2197	4287	6484	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.275G>A	5.37:g.140221181G>A	ENSP00000434655:p.Arg92His		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R92H	ENST00000531613.1	37	c.275	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955759	0.92726	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	3.91	3.91	0.45181	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.36338	U	0.002646	D	0.83857	0.5345	H	0.99516	4.605	0.39192	D	0.96298	D;D	0.89917	1.0;1.0	D;P	0.68353	0.957;0.839	D	0.92531	0.6033	10	0.87932	D	0	.	16.3256	0.82978	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	92	ENSP00000434655:R92H;ENSP00000367363:R92H	ENSP00000367363:R92H	R	+	2	0	PCDHA8	140201365	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.733000	0.98818	1.900000	0.55004	0.552000	0.68991	CGC	PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204962		0.602	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0	145	0	G	NM_018911		140221181	1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	41.86	75	54	SNP	1.000	A	A	140221181	G	A	140221181	3	1	58	1	0	0	0	0	1	0	0	0	11569	1087	38	1	277	1	PCDHA8	5	140221181	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	39025	140221181	40694079	710	15093											
PCDHA8	56140	genome.wustl.edu	37	chr5	140223137	140223137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctggtgtgctccagtgCggtggggagctggtcatact	5	11	15	10	1	2	0	1	0	1	0	3	1	3	1	1	5	4	2	1	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140223137C>T	ENST00000531613.1	+	1	2231	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A744V|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	744					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A744E(2)|p.A744V(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCAGTGCGGTGGGGAGC	0.667																																																	4	Substitution - Missense(4)	endometrium(4)											53	52	52					5																	140223137		2196	4263	6459	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2231C>T	5.37:g.140223137C>T	ENSP00000434655:p.Ala744Val		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A744V	ENST00000531613.1	37	c.2231	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406007	0.25378	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.15372	2.43;2.43	3.06	0.933	0.19471	.	0.220936	0.22040	U	0.065461	T	0.19725	0.0474	M	0.86502	2.82	0.09310	N	1	P;P	0.49635	0.647;0.926	B;B	0.42030	0.158;0.373	T	0.22034	-1.0228	10	0.15952	T	0.53	.	6.2053	0.20600	0.431:0.4643:0.0:0.1046	.	744;744	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	744	ENSP00000434655:A744V;ENSP00000367363:A744V	ENSP00000367363:A744V	A	+	2	0	PCDHA8	140203321	0.000000	0.05858	0.872000	0.34217	0.230000	0.25150	-0.521000	0.06245	0.572000	0.29383	0.460000	0.39030	GCG	PCDHA8	-	NULL	ENSG00000204962		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0	75	0	C	NM_018911		140223137	1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	48.72	40	38	SNP	0.021	T	T	140223137	C	T	140223137	3	4	58	1	0	0	0	0	1	0	0	0	11569	768	27	1	2233	1	PCDHA8	5	140223137	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1956	140223137	40692123	711	15094											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229984	140229984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagatcagcacaacgcGtgccctggacgaaacggacg	11	3	15	12	6	1	1	1	0	0	1	1	5	1	3	1	3	4	1	1	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140229984G>A	ENST00000532602.1	+	1	2937	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R635H|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAACGCGTGCCCTGGAC	0.667																																					Melanoma(55;1800 1972 14909)												0													68	69	69					5																	140229984		2197	4275	6472	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1904G>A	5.37:g.140229984G>A	ENSP00000436042:p.Arg635His		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R635H	ENST00000532602.1	37	c.1904	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027370	0.54683	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53857	0.6;0.6	4.13	3.19	0.36642	Cadherin (4);Cadherin-like (1);	0.000000	0.30820	U	0.008817	T	0.74114	0.3674	M	0.86953	2.85	0.29797	N	0.832728	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.73852	-0.3852	10	0.87932	D	0	.	13.578	0.61885	0.0:0.0:0.8446:0.1554	.	635;635	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	H	635	ENSP00000436042:R635H;ENSP00000367362:R635H	ENSP00000367362:R635H	R	+	2	0	PCDHA9	140210168	0.050000	0.20438	0.448000	0.26945	0.057000	0.15508	1.627000	0.37050	1.982000	0.57802	0.313000	0.20887	CGT	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	149	0	G	NM_031857		140229984	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	missense	41.09	76	53	SNP	0.943	A	A	140229984	G	A	140229984	3	1	58	1	0	0	0	0	1	0	0	0	11570	1145	40	1	1906	1	PCDHA9	5	140229984	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6847	140229984	40685276	712	15095											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250122	140250122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcttcacagtgtcggcGcgggacgcggacgcgcagga	8	5	15	13	7	2	0	1	0	1	0	3	3	2	3	0	4	0	1	0	4	0	1	rs575452776		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140250122G>A	ENST00000398640.2	+	1	1434	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTCGGCGCGGGACGCGG	0.667													.|||	1	0.000199681	0	0	5008	,	,		19829	0.001		0	False		,,,				2504	0																0													92	97	95					5																	140250122		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1434G>A	5.37:g.140250122G>A			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A478	ENST00000398640.2	37	c.1434	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0	242	0	G	NM_018902		140250122	1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	41.52	131	93	SNP	0.034	A	A	140250122	G	A	140250122	2	1	58	1	0	0	0	0	0	0	0	1	11560	1074	38	1		1	PCDHA11	5	140250122	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	20138	140250122	40665138	713	15096											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250469	140250469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtggcgaaggtgcGcgcagtggatgcggactcag	7	6	18	10	5	1	0	1	0	0	0	1	3	1	2	1	5	2	1	1	5	1	0	rs376620715	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140250469G>A	ENST00000398640.2	+	1	1781	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAT	0.687													.|||	4	0.000798722	0	0.0043	5008	,	,		17915	0		0	False		,,,				2504	0.001																0													79	90	86					5																	140250469		2203	4299	6502	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1781G>A	5.37:g.140250469G>A	ENSP00000381636:p.Arg594His		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R594H	ENST00000398640.2	37	c.1781	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	6.415	0.444733	0.12164	.	.	ENSG00000249158	ENST00000398640	T	0.52526	0.66	4.78	3.91	0.45181	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34279	0.0892	L	0.39326	1.205	0.09310	N	0.999993	B;B	0.32071	0.171;0.355	B;B	0.29598	0.045;0.104	T	0.25572	-1.0128	9	0.44086	T	0.13	.	4.4991	0.11855	0.2589:0.1675:0.5736:0.0	.	594;594	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	594	ENSP00000381636:R594H	ENSP00000381636:R594H	R	+	2	0	PCDHA11	140230653	0.000000	0.05858	0.999000	0.59377	0.104000	0.19210	0.529000	0.23019	1.009000	0.39289	0.556000	0.70494	CGC	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0	181	0	G	NM_018902		140250469	1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	33.77	102	52	SNP	0.390	A	A	140250469	G	A	140250469	3	1	58	1	0	0	0	0	1	0	0	0	11560	1087	38	1	1783	1	PCDHA11	5	140250469	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	347	140250469	40664791	714	15097											
PCDHA12	56137	genome.wustl.edu	37	chr5	140256774	140256774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgactccggctggcagcGcaggaggcgcagttagcgag	7	5	18	11	5	0	0	0	0	0	0	1	3	1	1	1	5	2	5	1	5	1	1	rs370743077		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140256774G>A	ENST00000398631.2	+	1	1717	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	573					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGCAGCGCAGGAGGCGC	0.692																																					Pancreas(113;759 1672 13322 24104 50104)												0													174	170	172					5																	140256774		2203	4299	6502	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1717G>A	5.37:g.140256774G>A	ENSP00000381628:p.Ala573Thr		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A573T	ENST00000398631.2	37	c.1717	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.586245	0.00872	.	.	ENSG00000251664	ENST00000398631	T	0.50001	0.76	3.87	0.763	0.18459	Cadherin-like (1);	.	.	.	.	T	0.19886	0.0478	N	0.03983	-0.305	0.09310	N	1	B;B	0.15141	0.003;0.012	B;B	0.10450	0.004;0.005	T	0.26780	-1.0093	9	0.14656	T	0.56	.	6.1704	0.20414	0.1865:0.1517:0.6617:0.0	.	573;573	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	573	ENSP00000381628:A573T	ENSP00000381628:A573T	A	+	1	0	PCDHA12	140236958	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.416000	0.21198	0.005000	0.14708	-0.367000	0.07326	GCA	PCDHA12	-	superfamily_Cadherin-like	ENSG00000251664		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	225	0	G	NM_018903		140256774	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	42.69	98	73	SNP	0.001	A	A	140256774	G	A	140256774	3	1	58	1	0	0	0	0	1	0	0	0	11561	1087	38	1	1719	1	PCDHA12	5	140256774	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6305	140256774	40658486	715	15098											
PCDHB4	56131	genome.wustl.edu	37	chr5	140503236	140503236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgctggtgctggaCaccaacgacaactcgccctt	7	8	12	14	4	0	0	0	0	0	0	1	2	0	1	2	2	5	2	2	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140503236C>T	ENST00000194152.1	+	1	1656	c.1656C>T	c.(1654-1656)gaC>gaT	p.D552D	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACACCAACGACA	0.697																																																	0													40	43	42					5																	140503236		2200	4293	6493	SO:0001819	synonymous_variant	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1656C>T	5.37:g.140503236C>T			Q4V761	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D552	ENST00000194152.1	37	c.1656	CCDS4246.1	5																																																																																			PCDHB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000081818		0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0	139	0	C	NM_018938		140503236	1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	41.50	86	61	SNP	0.843	T	T	140503236	C	T	140503236	2	4	58	1	0	0	0	0	0	0	0	1	11583	477	17	3		3	PCDHB4	5	140503236	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	246462	140503236	40412024	716	15099											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559277	140559277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgctggtgctggaCgccaacgacaactcgccctt	6	8	13	14	5	0	0	0	0	0	0	1	2	0	1	2	2	5	2	2	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140559277C>T	ENST00000239444.2	+	1	1907	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.706																																																	0													27	47	40					5																	140559277		2200	4293	6493	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1662C>T	5.37:g.140559277C>T			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D554	ENST00000239444.2	37	c.1662	CCDS4250.1	5																																																																																			PCDHB8	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120322		0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2		0	209	0	C	NM_019120		140559277	1			no_errors	ENST00000239444	ensembl	human	known	74_37	silent	5.88	144	9	SNP	0.988	T	T	140559277	C	T	140559277	2	4	58	1	0	0	0	0	0	0	0	1	11587	535	19	1		1	PCDHB8	5	140559277	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	56041	140559277	40355983	717	15100											
PCDHB13	56123	genome.wustl.edu	37	chr5	140595235	140595235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcggacaacggccacctgTtcgccctcaggtctctggac	7	7	11	16	4	2	0	1	0	1	0	4	2	2	2	3	4	1	1	3	4	1	1	rs374432821		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140595235T>C	ENST00000341948.4	+	1	1727	c.1540T>C	c.(1540-1542)Ttc>Ctc	p.F514L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCACCTGTTCGCCCTCAG	0.687																																																	0								T	LEU/PHE	1,4405		0,1,2202	101	106	104		1540	3.4	0	5		104	0,8600		0,0,4300	no	missense	PCDHB13	NM_018933.2	22	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	514/799	140595235	1,13005	2203	4300	6503	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1540T>C	5.37:g.140595235T>C	ENSP00000345491:p.Phe514Leu		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F514L	ENST00000341948.4	37	c.1540	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	N	15.66	2.898109	0.52227	2.27E-4	0.0	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01665	4.7	3.42	3.42	0.39159	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.06096	0.0158	L	0.39147	1.195	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.28459	-1.0043	9	0.87932	D	0	.	11.8915	0.52633	0.0:0.0:0.0:1.0	.	514	Q9Y5F0	PCDBD_HUMAN	L	514	ENSP00000345491:F514L	ENSP00000345491:F514L	F	+	1	0	PCDHB13	140575419	0.992000	0.36948	0.020000	0.16555	0.005000	0.04900	7.874000	0.87199	1.344000	0.45657	0.369000	0.22263	TTC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000187372		0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0	201	0	T	NM_018933		140595235	1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	5.17	165	9	SNP	0.000	C	C	140595235	T	C	140595235	3	2	58	1	0	0	0	0	1	0	0	0	11577	1725	60	4	1542	4	PCDHB13	5	140595235	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	35958	140595235	40320025	718	15101											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggcggccgcggtctcctgcg	2	9	16	14	5	2	0	0	0	2	0	3	0	2	0	3	6	2	1	3	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140712338C>T	ENST00000517417.1	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A696V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A696V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672																																																	2	Substitution - Missense(2)	endometrium(2)											73	84	81					5																	140712338		2203	4296	6499	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2087C>T	5.37:g.140712338C>T	ENSP00000431083:p.Ala696Val		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A696V	ENST00000517417.1	37	c.2087	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726327	0.69074	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52295	0.67;0.68	3.87	3.87	0.44632	.	0.000000	0.49305	D	0.000160	T	0.76543	0.4002	H	0.96916	3.905	0.35183	D	0.772664	D;D	0.76494	0.981;0.999	P;D	0.65140	0.89;0.932	D	0.88648	0.3180	10	0.87932	D	0	.	14.1628	0.65457	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	696	ENSP00000431083:A696V;ENSP00000367345:A696V	ENSP00000367345:A696V	A	+	2	0	PCDHGA1	140692522	0.111000	0.22076	0.925000	0.36789	0.038000	0.13279	2.489000	0.45285	2.162000	0.67917	0.585000	0.79938	GCG	PCDHGA1	-	NULL	ENSG00000204956		0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	-	0	129	0	C	NM_018912		140712338	1	tier1	-	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	50.00	70	70	SNP	0.999	T	T	140712338	C	T	140712338	3	4	58	1	0	0	0	0	1	0	0	0	11589	768	27	1	2089	1	PCDHGA1	5	140712338	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	117103	140712338	40202922	719	15102											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgacgcaaacgacaatgCgcccctgttcaccccatccg	9	6	7	19	5	1	0	1	0	0	0	3	2	2	0	6	0	2	2	6	0	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140744613C>T	ENST00000518069.1	+	1	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587																																																	0													82	83	83					5																	140744613		2084	4212	6296	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.716C>T	5.37:g.140744613C>T	ENSP00000429834:p.Ala239Val		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A239V	ENST00000518069.1	37	c.716	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	6.873	0.530482	0.13127	.	.	ENSG00000253485	ENST00000518069	T	0.03181	4.02	5.4	4.5	0.54988	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	L	0.56124	1.755	0.09310	N	1	P;P	0.43607	0.812;0.51	B;B	0.37943	0.261;0.133	T	0.40251	-0.9573	9	0.49607	T	0.09	.	6.1384	0.20247	0.157:0.6925:0.0:0.1505	.	239;239	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	239	ENSP00000429834:A239V	ENSP00000429834:A239V	A	+	2	0	PCDHGA5	140724797	0.045000	0.20229	0.160000	0.22671	0.023000	0.10783	1.665000	0.37449	1.341000	0.45600	0.467000	0.42956	GCG	PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.587	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0	26	0	C	NM_018918		140744613	1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	36.84	12	7	SNP	0.174	T	T	140744613	C	T	140744613	3	4	58	1	0	0	0	0	1	0	0	0	11596	768	27	1	718	1	PCDHGA5	5	140744613	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	32275	140744613	40170647	720	15103											
PCDHGB3	56102	genome.wustl.edu	37	chr5	140750891	140750892	+	Frame_Shift_Del	DEL	AG	AG	-																															attggagaactggactttgaAgagagagatagctacacaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140750891_140750892delAG	ENST00000576222.1	+	1	1061_1062	c.930_931delAG	c.(928-933)gaagagfs	p.EE310fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACTTTGAAGAGAGAGATAG	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.930_931delAG	5.37:g.140750897_140750898delAG	ENSP00000461862:p.Glu310fs		A7E229|Q9Y5C7	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D313fs	ENST00000576222.1	37	c.930_931	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262209		0.416	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1		0	48	0	AG	NM_018924		140750892	1	tier1		no_errors	ENST00000576222	ensembl	human	known	74_37	frame_shift_del	41.86	25	18	DEL	0.133:0.069	-	-	140750892	AG	-	140750891	7	5	58	1	0	1	0	1	0	0	0	0	11603	69	3	0	932	0	PCDHGB3	5	140750891	Frame_Shift_Del	DEL	AG	TCGA-L5-A4OI-01A-11D-A27G-09	6278	140750891	40164369	721	15104											
PCDHGA9	56107	genome.wustl.edu	37	chr5	140784404	140784404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaggtgaagtgcgcacaGctcgggccctgctagataga	11	6	13	11	2	0	3	0	1	0	2	1	3	0	3	1	2	3	3	1	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140784404G>A	ENST00000573521.1	+	1	1885	c.1885G>A	c.(1885-1887)Gct>Act	p.A629T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCGCACAGCTCGGGCCCT	0.607																																																	0													42	49	46					5																	140784404		2183	4299	6482	SO:0001583	missense	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1885G>A	5.37:g.140784404G>A	ENSP00000460274:p.Ala629Thr		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A629T	ENST00000573521.1	37	c.1885	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000261934		0.607	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	-	0	104	0	G	NM_018921		140784404	1	tier1	-	no_errors	ENST00000573521	ensembl	human	known	74_37	missense	37.76	61	37	SNP	0.011	A	A	140784404	G	A	140784404	3	1	58	1	0	0	0	0	1	0	0	0	11600	971	34	3	1887	3	PCDHGA9	5	140784404	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	33513	140784404	40130856	722	15105											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140801619	140801619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccagacgagggaatcaaCggggaagtaatgtattcatt	14	9	12	6	2	2	1	2	0	0	1	3	5	3	3	1	3	1	2	1	3	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140801619C>T	ENST00000398587.2	+	1	858	c.825C>T	c.(823-825)aaC>aaT	p.N275N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.N275N|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGAATCAACGGGGAAGTAA	0.463																																																	0													142	142	142					5																	140801619		1875	4105	5980	SO:0001819	synonymous_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.825C>T	5.37:g.140801619C>T			B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N275	ENST00000398587.2	37	c.825	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.463	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	-	0	38	0	C	NM_018914		140801619	1	tier1	-	no_errors	ENST00000398587	ensembl	human	known	74_37	silent	25.49	38	13	SNP	0.570	T	T	140801619	C	T	140801619	2	4	58	1	0	0	0	0	0	0	0	1	11591	535	19	1		1	PCDHGA11	5	140801619	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	17215	140801619	40113641	723	15106											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140801720	140801721	+	Frame_Shift_Ins	INS	-	-	T																															caagtacgggggtctctggaINSttttgaaaaatatagattct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140801720_140801721insT	ENST00000398587.2	+	1	959_960	c.926_927insT	c.(925-930)gattttfs	p.DF309fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Ins_p.DF309fs|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTCTGGATTTTGAAAAAT	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.930dupT	5.37:g.140801724_140801724dupT	ENSP00000381589:p.Asp309fs		B7ZVY8|Q9Y5D8|Q9Y5D9	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E311fs	ENST00000398587.2	37	c.926_927	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.411	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1		0	34	0	-	NM_018914		140801721	1	tier1		no_errors	ENST00000398587	ensembl	human	known	74_37	frame_shift_ins	22.22	35	10	INS	1.000:1.000	T	T	140801721	-	T	140801720	7	5	58	1	0	1	1	0	0	0	0	0	11591	333	12	0	928	0	PCDHGA11	5	140801720	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	101	140801720	40113540	724	15107											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140802149	140802149	+	Frame_Shift_Del	DEL	T	T	-																															tgacaacgataaccctcccgTttttcctcactcctcttact																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140802149delT	ENST00000398587.2	+	1	1388	c.1355delT	c.(1354-1356)gttfs	p.V452fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Del_p.V452fs|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCTCCCGTTTTTCCTCAC	0.522																																																	0													133	139	137					5																	140802149		2062	4232	6294	SO:0001589	frameshift_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1355delT	5.37:g.140802149delT	ENSP00000381589:p.Val452fs		B7ZVY8|Q9Y5D8|Q9Y5D9	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P454fs	ENST00000398587.2	37	c.1355	CCDS47294.1	5																																																																																			PCDHGA11	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000253873		0.522	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1		0	58	0	T	NM_018914		140802149	1	tier1		no_errors	ENST00000398587	ensembl	human	known	74_37	frame_shift_del	33.33	32	16	DEL	0.000	-	-	140802149	T	-	140802149	7	5	58	1	0	1	0	1	0	0	0	0	11591	1725	60	0	1357	0	PCDHGA11	5	140802149	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	429	140802149	40113111	725	15108											
PCDHGA12	26025	genome.wustl.edu	37	chr5	140810542	140810542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatccccagaggtaggacGcagcttttcgccctgaatcc	9	9	9	14	2	1	2	1	1	0	1	4	3	3	3	4	2	1	3	4	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140810542G>A	ENST00000252085.3	+	1	358	c.216G>A	c.(214-216)acG>acA	p.T72T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCG	0.637																																																	0													59	72	68					5																	140810542		2202	4300	6502	SO:0001819	synonymous_variant	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"Cadherins / Protocadherins : Clustered"	8699	other	protocadherin	"fibroblast cadherin FIB3"	603059	"cadherin 21"	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.216G>A	5.37:g.140810542G>A			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T72	ENST00000252085.3	37	c.216	CCDS4260.1	5																																																																																			PCDHGA12	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000253159		0.637	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	-	0	34	0	G	NM_003735		140810542	1	tier1	-	no_errors	ENST00000252085	ensembl	human	known	74_37	silent	46.15	20	18	SNP	0.000	A	A	140810542	G	A	140810542	2	1	58	1	0	0	0	0	0	0	0	1	11592	1074	38	1		1	PCDHGA12	5	140810542	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8393	140810542	40104718	726	15109											
PCDHGC3	5098	genome.wustl.edu	37	chr5	140857922	140857922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttgcacgcggacgccGtgcggggaggcctgatgtcg	4	7	16	14	6	0	1	0	1	0	0	2	3	1	3	4	4	2	1	4	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140857922G>A	ENST00000308177.3	+	1	2343	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	RN7SL68P_ENST00000488078.2_RNA|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	747					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGACGCCGTGCGGGGAGG	0.602											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68	85	79					5																	140857922		2202	4300	6502	SO:0001583	missense	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2239G>A	5.37:g.140857922G>A	ENSP00000312070:p.Val747Met	1659	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V747M	ENST00000308177.3	37	c.2239	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976698	0.74360	.	.	ENSG00000240184	ENST00000308177	T	0.50277	0.75	5.95	4.13	0.48395	.	.	.	.	.	T	0.49098	0.1537	M	0.64567	1.98	0.22571	N	0.998973	P;D	0.59767	0.918;0.986	B;P	0.46718	0.175;0.525	T	0.41662	-0.9496	9	0.46703	T	0.11	.	9.5263	0.39167	0.075:0.144:0.781:0.0	.	747;747	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	M	747	ENSP00000312070:V747M	ENSP00000312070:V747M	V	+	1	0	PCDHGC3	140838106	0.976000	0.34144	0.934000	0.37439	0.997000	0.91878	1.838000	0.39211	1.495000	0.48549	0.650000	0.86243	GTG	PCDHGC3	-	NULL	ENSG00000240184		0.602	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	-	0	41	0	G	NM_002588		140857922	1	tier1	-	no_errors	ENST00000308177	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.884	A	A	140857922	G	A	140857922	3	1	58	1	0	0	0	0	1	0	0	0	11608	1145	40	1	2241	1	PCDHGC3	5	140857922	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	47380	140857922	40057338	727	15110											
HDAC3	8841	genome.wustl.edu	37	chr5	141005807	141005807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccaccaccacccagcaCgagtagagggatattgaagc	15	5	9	12	1	0	2	0	1	0	1	0	4	0	3	4	1	3	2	4	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:141005807C>T	ENST00000305264.3	-	11	953	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	292	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCACCCAGCACGAGTAGAGGG	0.488																																																	0													150	117	128					5																	141005807		2203	4300	6503	SO:0001583	missense	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.874G>A	5.37:g.141005807C>T	ENSP00000302967:p.Val292Met		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.V292M	ENST00000305264.3	37	c.874	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341051	0.81911	.	.	ENSG00000171720	ENST00000305264;ENST00000523353;ENST00000523088	T;T;T	0.71222	-0.55;-0.55;1.47	5.65	5.65	0.86999	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.77373	-0.2612	10	0.23302	T	0.38	-18.8127	19.5069	0.95121	0.0:1.0:0.0:0.0	.	292	O15379	HDAC3_HUMAN	M	292;101;217	ENSP00000302967:V292M;ENSP00000430667:V101M;ENSP00000429099:V217M	ENSP00000302967:V292M	V	-	1	0	HDAC3	140985991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GTG	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000171720		0.488	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	-	0	113	0	C	NM_003883		141005807	-1	tier1	-	no_errors	ENST00000305264	ensembl	human	known	74_37	missense	52.34	51	56	SNP	1.000	T	T	141005807	C	T	141005807	3	4	58	1	0	0	0	0	1	0	0	0	7035	536	19	1	432	1	HDAC3	5	141005807	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	147885	141005807	39909453	728	15111											
PCDH1	5097	genome.wustl.edu	37	chr5	141243705	141243705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccgtctcaccaagacGtgtctggggggtcagcagct	7	8	14	12	2	3	2	2	1	2	1	4	2	3	2	2	3	2	3	2	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:141243705G>A	ENST00000394536.3	-	3	2330	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	PCDH1_ENST00000456271.1_Missense_Mutation_p.R719C|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.R731C|PCDH1_ENST00000536585.1_Missense_Mutation_p.R709C|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R731C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCACCAAGACGTGTCTGGGGG	0.537																																					Ovarian(132;1609 1739 4190 14731 45037)												1	Substitution - Missense(1)	endometrium(1)											85	80	82					5																	141243705		2203	4300	6503	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2191C>T	5.37:g.141243705G>A	ENSP00000378043:p.Arg731Cys		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R731C	ENST00000394536.3	37	c.2191	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	g	14.52	2.559009	0.45590	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.54866	0.55;4.65;4.65;4.65;4.65	5.42	5.42	0.78866	Cadherin (2);Cadherin-like (1);	0.124629	0.36409	N	0.002604	T	0.67287	0.2877	M	0.70842	2.15	0.30216	N	0.797271	D;D	0.65815	0.995;0.989	P;P	0.56788	0.806;0.707	T	0.68914	-0.5283	10	0.52906	T	0.07	.	16.697	0.85338	0.0:0.0:1.0:0.0	.	731;731	Q08174;Q08174-2	PCDH1_HUMAN;.	C	731;731;719;742;709	ENSP00000287008:R731C;ENSP00000378043:R731C;ENSP00000403497:R719C;ENSP00000350122:R742C;ENSP00000438825:R709C	ENSP00000287008:R731C	R	-	1	0	PCDH1	141223889	0.331000	0.24713	0.997000	0.53966	0.994000	0.84299	2.072000	0.41510	2.548000	0.85928	0.457000	0.33378	CGT	PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000156453		0.537	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	-	0	24	0	G	NM_032420		141243705	-1	tier1	-	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	69.23	4	9	SNP	0.460	A	A	141243705	G	A	141243705	3	1	58	1	0	0	0	0	1	0	0	0	11545	1145	40	1	1618	1	PCDH1	5	141243705	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	237898	141243705	39671555	729	15112											
RBM27	54439	genome.wustl.edu	37	chr5	145583379	145583379	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctggccaagttactGgagccgatgtgagtgagccg	7	9	15	10	2	0	2	0	2	0	0	1	4	1	3	4	3	3	2	4	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:145583379G>T	ENST00000265271.5	+	1	217	c.51G>T	c.(49-51)ctG>ctT	p.L17L	RBM27_ENST00000506502.1_Silent_p.L17L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	17					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGTTACTGGAGCCGATGT	0.721																																																	0													10	11	11					5																	145583379		1287	2990	4277	SO:0001819	synonymous_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.51G>T	5.37:g.145583379G>T			Q8IYW9	Silent	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.L17	ENST00000265271.5	37	c.51	CCDS43378.1	5																																																																																			RBM27	-	pfam_PWI_dom	ENSG00000091009		0.721	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0	48	0	G	XM_291128		145583379	1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	silent	15.00	17	3	SNP	1.000	T	T	145583379	G	T	145583379	2	4	58	1	0	0	0	0	0	0	0	1	13172	1335	47	3		3	RBM27	5	145583379	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4339674	145583379	35331881	730	15113											
POU4F3	5459	genome.wustl.edu	37	chr5	145719656	145719656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatccccggcgtgggctcGctgagccaaagcaccatctg	9	6	12	14	3	1	2	0	1	1	1	3	2	2	2	4	2	2	3	4	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:145719656G>A	ENST00000230732.4	+	2	755	c.666G>A	c.(664-666)tcG>tcA	p.S222S	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	222	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTGGGCTCGCTGAGCCAAA	0.642																																																	0													47	50	49					5																	145719656		2203	4300	6503	SO:0001819	synonymous_variant	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.666G>A	5.37:g.145719656G>A			O60557|Q2M3F8	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.S222	ENST00000230732.4	37	c.666	CCDS4281.1	5																																																																																			POU4F3	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific	ENSG00000091010		0.642	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0	92	0	G	NM_002700		145719656	1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	silent	36.78	55	32	SNP	0.862	A	A	145719656	G	A	145719656	2	1	58	1	0	0	0	0	0	0	0	1	12319	1074	38	1		1	POU4F3	5	145719656	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	136277	145719656	35195604	731	15114											
ABLIM3	22885	genome.wustl.edu	37	chr5	148630032	148630032	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcatctccaaatctgcCtccctgcctgcctaccgaag	7	10	5	19	1	3	0	1	0	3	0	6	1	4	0	7	0	4	0	7	0	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:148630032C>A	ENST00000506113.1	+	19	2234	c.1752C>A	c.(1750-1752)gcC>gcA	p.A584A	RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.A473A|ABLIM3_ENST00000326685.7_Silent_p.A489A|ABLIM3_ENST00000508983.1_Silent_p.A551A|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.A584A|ABLIM3_ENST00000504238.1_Silent_p.A473A|ABLIM3_ENST00000517451.1_Silent_p.A70A			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	584					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATCTGCCTCCCTGCCTG	0.507																																																	0													123	110	115					5																	148630032		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1752C>A	5.37:g.148630032C>A			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.A584	ENST00000506113.1	37	c.1752	CCDS4294.1	5																																																																																			ABLIM3	-	NULL	ENSG00000173210		0.507	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	-	0	104	0	C	NM_014945		148630032	1	tier1	-	no_errors	ENST00000309868	ensembl	human	known	74_37	silent	42.68	47	35	SNP	1.000	A	A	148630032	C	A	148630032	2	1	58	1	0	0	0	0	0	0	0	1	96	668	24	3		3	ABLIM3	5	148630032	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2910376	148630032	32285228	732	15115											
ARHGEF37	389337	genome.wustl.edu	37	chr5	148980676	148980676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttccttccagttgccGcagggagatctggatgtcct	5	14	11	11	1	1	1	0	0	1	1	4	3	4	2	4	2	1	3	4	2	0	4	rs568489670		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:148980676G>A	ENST00000333677.6	+	3	355	c.192G>A	c.(190-192)ccG>ccA	p.P64P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	64	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCCAGTTGCCGCAGGGAGATC	0.473													g|||	1	0.000199681	0	0	5008	,	,		19672	0		0.001	False		,,,				2504	0																0													146	146	146					5																	148980676		1914	4120	6034	SO:0001819	synonymous_variant	0			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"Rho guanine nucleotide exchange factors"	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.192G>A	5.37:g.148980676G>A			Q6ZW51	Silent	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.P64	ENST00000333677.6	37	c.192	CCDS43385.1	5																																																																																			ARHGEF37	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000183111		0.473	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1	-	0	68	0	G	NM_001001669		148980676	1	tier1	-	no_errors	ENST00000333677	ensembl	human	known	74_37	silent	31.65	54	25	SNP	0.000	A	A	148980676	G	A	148980676	2	1	58	1	0	0	0	0	0	0	0	1	906	1074	38	1		1	ARHGEF37	5	148980676	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	350644	148980676	31934584	733	15116											
SLC26A2	1836	genome.wustl.edu	37	chr5	149360003	149360003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcctcggactaatggtGtgggctcactcatcactacc	8	11	8	14	1	3	0	3	0	0	0	5	1	4	1	3	3	1	1	3	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:149360003G>A	ENST00000286298.4	+	3	1115	c.847G>A	c.(847-849)Gtg>Atg	p.V283M		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	283					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GACTAATGGTGTGGGCTCACT	0.453																																																	0													182	164	171					5																	149360003		2203	4300	6503	SO:0001583	missense	0			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.847G>A	5.37:g.149360003G>A	ENSP00000286298:p.Val283Met		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V283M	ENST00000286298.4	37	c.847	CCDS4300.1	5	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334056	0.41297	.	.	ENSG00000155850	ENST00000286298	D	0.93547	-3.24	5.26	5.26	0.73747	Sulphate transporter (1);	0.195352	0.47852	D	0.000218	D	0.91858	0.7423	N	0.20986	0.625	0.26738	N	0.970444	P	0.48834	0.916	P	0.60345	0.873	D	0.84987	0.0892	10	0.33141	T	0.24	.	9.6263	0.39752	0.1552:0.0:0.8448:0.0	.	283	P50443	S26A2_HUMAN	M	283	ENSP00000286298:V283M	ENSP00000286298:V283M	V	+	1	0	SLC26A2	149340196	0.734000	0.28142	0.955000	0.39395	0.962000	0.63368	0.598000	0.24074	2.464000	0.83262	0.579000	0.79373	GTG	SLC26A2	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000155850		0.453	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	-	0	90	0	G	NM_000112		149360003	1	tier1	-	no_errors	ENST00000286298	ensembl	human	known	74_37	missense	38.16	47	29	SNP	1.000	A	A	149360003	G	A	149360003	3	1	58	1	0	0	0	0	1	0	0	0	14562	1377	48	3	853	3	SLC26A2	5	149360003	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	379327	149360003	31555257	734	15117											
PDGFRB	5159	genome.wustl.edu	37	chr5	149513315	149513315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagtcaccggctccaccagCcgcccactctgcagcaacag	9	5	8	19	2	3	0	2	0	1	0	4	0	4	0	5	1	4	3	5	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:149513315C>T	ENST00000261799.4	-	6	1237	c.768G>A	c.(766-768)cgG>cgA	p.R256R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	256	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCCACCAGCCGCCCACTCT	0.612			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													67	71	70					5																	149513315		2203	4300	6503	SO:0001819	synonymous_variant	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.768G>A	5.37:g.149513315C>T			B5A957|Q8N5L4	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R256	ENST00000261799.4	37	c.768	CCDS4303.1	5																																																																																			PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113721		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	-	0	40	0	C	NM_002609		149513315	-1	tier1	-	no_errors	ENST00000261799	ensembl	human	known	74_37	silent	29.55	31	13	SNP	0.225	T	T	149513315	C	T	149513315	2	4	58	1	0	0	0	0	0	0	0	1	11701	726	26	3		3	PDGFRB	5	149513315	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	153312	149513315	31401945	735	15118											
NDST1	3340	genome.wustl.edu	37	chr5	149918868	149918868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggcggctccagtgagctgGacaagatcatcaacgggggc	9	6	15	11	2	2	2	2	1	0	1	3	3	3	3	1	5	2	2	1	5	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:149918868G>T	ENST00000261797.6	+	7	2018	c.1516G>T	c.(1516-1518)Gac>Tac	p.D506Y	NDST1_ENST00000523767.1_Missense_Mutation_p.D506Y	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	506	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.D506Y(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGAGCTGGACAAGATCAT	0.617																																																	1	Substitution - Missense(1)	endometrium(1)											181	174	176					5																	149918868		2203	4300	6503	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1516G>T	5.37:g.149918868G>T	ENSP00000261797:p.Asp506Tyr		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.D506Y	ENST00000261797.6	37	c.1516	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.116342	0.94339	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.49432	0.78;1.1	5.51	5.51	0.81932	.	0.042558	0.85682	D	0.000000	T	0.75369	0.3840	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.75484	0.968;0.986;0.968	T	0.79659	-0.1711	10	0.87932	D	0	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	506;506;506	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	Y	506	ENSP00000428604:D506Y;ENSP00000261797:D506Y	ENSP00000261797:D506Y	D	+	1	0	NDST1	149899061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.918000	0.87506	2.746000	0.94184	0.655000	0.94253	GAC	NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.617	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0	54	0	G	NM_001543		149918868	1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	149918868	G	T	149918868	3	4	58	1	0	0	0	0	1	0	0	0	10294	1174	41	3	1538	3	NDST1	5	149918868	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	405553	149918868	30996392	736	15119											
SYNPO	11346	genome.wustl.edu	37	chr5	150027558	150027558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgaaagaagccaaggcGcggagccagcagattgcagc	13	4	14	10	2	1	3	0	1	1	2	1	5	1	4	2	2	5	2	2	2	3	1	rs372695074		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:150027558G>A	ENST00000394243.1	+	3	827	c.453G>A	c.(451-453)gcG>gcA	p.A151A	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000522122.1_Silent_p.A151A	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	151					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGGCGCGGAGCCAGC	0.597																																																	0								G	,,,	1,1383		0,1,691	50	61	58		,453,453,	-10.3	0	5		58	1,3181		0,1,1590	no	utr-5,coding-synonymous,coding-synonymous,utr-5	SYNPO	NM_001109974.2,NM_001166208.1,NM_001166209.1,NM_007286.5	,,,	0,2,2281	AA,AG,GG		0.0314,0.0723,0.0438	,,,	,151/930,151/930,	150027558	2,4564	692	1591	2283	SO:0001819	synonymous_variant	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.453G>A	5.37:g.150027558G>A			A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	NULL	p.A151	ENST00000394243.1	37	c.453	CCDS54937.1	5																																																																																			SYNPO	-	NULL	ENSG00000171992		0.597	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	-	0	35	0	G	NM_007286		150027558	1	tier1	-	no_errors	ENST00000394243	ensembl	human	known	74_37	silent	35.71	26	15	SNP	0.002	A	A	150027558	G	A	150027558	2	1	58	1	0	0	0	0	0	0	0	1	15503	1074	38	1		1	SYNPO	5	150027558	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	108690	150027558	30887702	737	15120											
GALNT10	55568	genome.wustl.edu	37	chr5	153789185	153789185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaataccgccacctctccGctggggatgtcgcagtccag	7	8	11	15	3	1	1	0	1	1	0	4	2	2	2	5	2	1	2	5	2	2	1	rs375000619		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:153789185G>A	ENST00000297107.6	+	9	1386	c.1249G>A	c.(1249-1251)Gct>Act	p.A417T	GALNT10_ENST00000377661.2_Missense_Mutation_p.A355T|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.A90T	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	417					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ccacctctccgctggggatgt	0.537																																																	0								G	THR/ALA	0,4406		0,0,2203	101	109	107		1249	2.9	0.2	5		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT10	NM_198321.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	417/604	153789185	1,13005	2203	4300	6503	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1249G>A	5.37:g.153789185G>A	ENSP00000297107:p.Ala417Thr		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A417T	ENST00000297107.6	37	c.1249	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912363	0.33721	0.0	1.16E-4	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.65732	-0.17;-0.17;-0.17	5.08	2.92	0.33932	.	0.158123	0.56097	D	0.000032	T	0.46229	0.1382	N	0.21324	0.655	0.42271	D	0.992056	B;B;B	0.26672	0.156;0.007;0.008	B;B;B	0.30316	0.114;0.005;0.005	T	0.33904	-0.9850	10	0.22706	T	0.39	.	11.9725	0.53071	0.1717:0.0:0.8283:0.0	.	355;88;417	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	T	417;355;90	ENSP00000297107:A417T;ENSP00000366889:A355T;ENSP00000366885:A90T	ENSP00000297107:A417T	A	+	1	0	GALNT10	153769378	1.000000	0.71417	0.198000	0.23420	0.765000	0.43378	3.699000	0.54778	1.124000	0.41980	0.561000	0.74099	GCT	GALNT10	-	NULL	ENSG00000164574		0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	-	0	37	0	G	NM_198321		153789185	1	tier1	-	no_errors	ENST00000297107	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.672	A	A	153789185	G	A	153789185	3	1	58	1	0	0	0	0	1	0	0	0	6233	1087	38	1	1283	1	GALNT10	5	153789185	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3761627	153789185	27126075	738	15121											
CYFIP2	26999	genome.wustl.edu	37	chr5	156786063	156786063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcctacaggaatttcgtGgggccacctcatttcaagac	10	10	9	12	1	2	1	2	0	0	1	4	2	3	2	3	3	2	1	3	3	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:156786063G>T	ENST00000442283.2	+	25	2859	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W	CYFIP2_ENST00000521420.1_Silent_p.V882V|CYFIP2_ENST00000347377.6_Silent_p.V908V|CYFIP2_ENST00000541131.1_Silent_p.V833V|CYFIP2_ENST00000318218.6_Silent_p.V933V|CYFIP2_ENST00000435847.2_Silent_p.V607V|CYFIP2_ENST00000377576.3_Silent_p.V908V|CYFIP2_ENST00000522463.1_Silent_p.V712V	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAATTTCGTGGGGCCACCTC	0.488																																																	0													183	187	186					5																	156786063		2003	4176	6179	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000442283.2:c.577G>T	5.37:g.156786063G>T	ENSP00000390948:p.Gly193Trp			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom	p.G193W	ENST00000442283.2	37	c.577		5	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866740	0.51588	.	.	ENSG00000055163	ENST00000442283	T	0.28666	1.6	5.28	4.4	0.53042	.	.	.	.	.	T	0.41236	0.1150	.	.	.	0.27626	N	0.948185	.	.	.	.	.	.	T	0.32322	-0.9911	6	0.87932	D	0	-29.3084	13.1211	0.59327	0.0:0.0:0.7089:0.2911	.	.	.	.	W	193	ENSP00000390948:G193W	ENSP00000390948:G193W	G	+	1	0	CYFIP2	156718641	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.984000	0.49353	1.198000	0.43158	0.655000	0.94253	GGG	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom	ENSG00000055163		0.488	CYFIP2-205	KNOWN	basic	protein_coding	CYFIP2	HGNC	protein_coding		-	0	84	0	G	NM_001037332		156786063	1	tier1	-	no_errors	ENST00000442283	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	156786063	G	T	156786063	3	4	58	1	0	0	0	0	1	0	0	0	4147	1335	47	3	2814	3	CYFIP2	5	156786063	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2996878	156786063	24129197	739	15122											
SOX30	11063	genome.wustl.edu	37	chr5	157065620	157065620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggatagacaggtagacttgGatcctggacagccacctgag	11	8	13	9	0	0	3	0	1	0	2	1	6	1	6	3	4	1	1	3	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:157065620G>T	ENST00000265007.6	-	4	1839	c.1498C>A	c.(1498-1500)Cca>Aca	p.P500T	SOX30_ENST00000519442.1_Missense_Mutation_p.P195T|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	500					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTAGACTTGGATCCTGGACA	0.567																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													70	69	70					5																	157065620		2203	4300	6503	SO:0001583	missense	0			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1498C>A	5.37:g.157065620G>T	ENSP00000265007:p.Pro500Thr		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P500T	ENST00000265007.6	37	c.1498	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509214	0.64522	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.97994	-4.37;-4.65	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000015	D	0.97151	0.9069	L	0.27053	0.805	0.36820	D	0.886335	D;D	0.69078	0.993;0.997	P;D	0.66196	0.782;0.942	D	0.99568	1.0970	10	0.72032	D	0.01	.	14.0824	0.64932	0.0:0.1501:0.8498:0.0	.	195;500	B4DXW7;O94993	.;SOX30_HUMAN	T	500;195	ENSP00000265007:P500T;ENSP00000427984:P195T	ENSP00000265007:P500T	P	-	1	0	SOX30	156998198	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.575000	0.53870	2.582000	0.87167	0.650000	0.86243	CCA	SOX30	-	NULL	ENSG00000039600		0.567	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2		0	74	0	G	NM_007017		157065620	-1			no_errors	ENST00000265007	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T	T	157065620	G	T	157065620	3	4	58	1	0	0	0	0	1	0	0	0	14997	1174	41	3	771	3	SOX30	5	157065620	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	279557	157065620	23849640	740	15123											
ATP10B	23120	genome.wustl.edu	37	chr5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctatattcatgcgcCgctcaatcttgctgcgtttg	7	15	9	10	3	4	1	2	0	2	1	4	1	4	1	1	0	3	3	1	0	3	5	rs374878756		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478																																																	0								C	GLN/ARG	1,4013		0,1,2006	188	189	189		932	5.4	1	5		189	0,8408		0,0,4204	no	missense	ATP10B	NM_025153.2	43	0,1,6210	TT,TC,CC		0.0,0.0249,0.0081	possibly-damaging	311/1462	160067536	1,12421	2007	4204	6211	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.932G>A	5.37:g.160067536C>T	ENSP00000313600:p.Arg311Gln		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R311Q	ENST00000327245.5	37	c.932	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027573	0.75390	2.49E-4	0.0	ENSG00000118322	ENST00000327245	D	0.91124	-2.79	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.84846	2.72	0.47341	D	0.999395	P;B;D;P	0.54397	0.924;0.157;0.966;0.536	P;B;P;B	0.46299	0.507;0.052;0.511;0.116	D	0.92577	0.6071	9	.	.	.	.	13.5202	0.61563	0.0:0.9226:0.0:0.0774	.	355;311;283;311	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Q	311	ENSP00000313600:R311Q	.	R	-	2	0	ATP10B	160000114	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	3.244000	0.51399	2.547000	0.85894	0.650000	0.86243	CGG	ATP10B	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0	84	0	C	NM_025153		160067536	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	31.76	58	27	SNP	1.000	T	T	160067536	C	T	160067536	3	4	58	1	0	0	0	0	1	0	0	0	1118	652	23	1	3521	1	ATP10B	5	160067536	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3001916	160067536	20847724	741	15124											
GABRA1	2554	genome.wustl.edu	37	chr5	161300245	161300246	+	Frame_Shift_Ins	INS	-	-	T																															aaatctggactccggacacaINStttttccacaatggaaagaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:161300245_161300246insT	ENST00000428797.2	+	6	733_734	c.378_379insT	c.(379-381)tttfs	p.F127fs	GABRA1_ENST00000393943.4_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000420560.1_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000023897.6_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000444819.1_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000437025.2_Frame_Shift_Ins_p.F127fs	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	127					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCCGGACACATTTTTCCACAA	0.455																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.383dupT	5.37:g.161300250_161300250dupT	ENSP00000393097:p.Phe127fs		D3DQK6|Q8N629	Frame_Shift_Ins	INS	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.H128fs	ENST00000428797.2	37	c.378_379	CCDS4357.1	5																																																																																			GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000022355		0.455	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2		0	61	0	-	NM_000806.5		161300246	1	tier1		no_errors	ENST00000023897	ensembl	human	known	74_37	frame_shift_ins	25.71	52	18	INS	0.975:1.000	T	T	161300246	-	T	161300245	7	5	58	1	0	1	1	0	0	0	0	0	6184	204	8	0	392	0	GABRA1	5	161300245	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1232709	161300245	19615015	742	15125											
GABRG2	2566	genome.wustl.edu	37	chr5	161580287	161580288	+	Frame_Shift_Ins	INS	-	-	A																															ggatacatatccgcattgccINSaaaatggactcctatgctcg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:161580287_161580288insA	ENST00000361925.4	+	9	1537_1538	c.1317_1318insA	c.(1318-1320)aaafs	p.K440fs	GABRG2_ENST00000356592.3_Frame_Shift_Ins_p.K448fs|GABRG2_ENST00000414552.2_Frame_Shift_Ins_p.K488fs|GABRG2_ENST00000393933.4_Frame_Shift_Ins_p.K345fs			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	440	Interaction with GABARAP. {ECO:0000255}.				adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCGCATTGCCAAAATGGACTC	0.485																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1321dupA	5.37:g.161580291_161580291dupA	ENSP00000354651:p.Lys440fs		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Frame_Shift_Ins	INS	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M448fs	ENST00000361925.4	37	c.1341_1342	CCDS4358.1	5																																																																																			GABRG2	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt	ENSG00000113327		0.485	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1		0	71	0	-			161580288	1	tier1		no_errors	ENST00000356592	ensembl	human	known	74_37	frame_shift_ins	35.09	37	20	INS	1.000:1.000	A	A	161580288	-	A	161580287	7	5	58	1	0	1	1	0	0	0	0	0	6196	581	21	0	1503	0	GABRG2	5	161580287	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	280042	161580287	19334973	743	15126											
RANBP17	64901	genome.wustl.edu	37	chr5	170319432	170319432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcatcacagcccaagctgGctccctttgtcatccaagct	8	10	8	15	0	2	0	2	0	0	0	4	0	4	0	3	2	3	4	3	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:170319432G>T	ENST00000523189.1	+	4	462	c.298G>T	c.(298-300)Gct>Tct	p.A100S		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	100					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCAAGCTGGCTCCCTTTGT	0.403			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													169	165	167					5																	170319432		2203	4300	6503	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.298G>T	5.37:g.170319432G>T	ENSP00000427975:p.Ala100Ser		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.A100S	ENST00000523189.1	37	c.298	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293393	0.80914	.	.	ENSG00000204764	ENST00000523189;ENST00000545246;ENST00000519944	T	0.23950	1.88	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.45175	0.1329	M	0.69248	2.105	0.49687	D	0.999812	P;D	0.67145	0.81;0.996	B;P	0.57620	0.23;0.824	T	0.08006	-1.0743	10	0.20046	T	0.44	-15.1675	19.9157	0.97061	0.0:0.0:1.0:0.0	.	100;150	Q9H2T7;B4DQG2	RBP17_HUMAN;.	S	100;18;18	ENSP00000427975:A100S	ENSP00000373770:A100S	A	+	1	0	RANBP17	170252010	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.563000	0.82314	2.813000	0.96785	0.561000	0.74099	GCT	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.403	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0	59	0	G	NM_022897		170319432	1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	170319432	G	T	170319432	3	4	58	1	0	0	0	0	1	0	0	0	13072	1203	42	3	312	3	RANBP17	5	170319432	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8739145	170319432	10595828	744	15127											
RPL26L1	51121	genome.wustl.edu	37	chr5	172387036	172387036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccatccgcaaggacgacGaggtccaggtacgtctccct	8	7	11	15	4	1	0	0	0	1	0	4	3	3	1	4	3	2	2	4	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:172387036G>A	ENST00000521476.1	+	2	284	c.160G>A	c.(160-162)Gag>Aag	p.E54K	RPL26L1_ENST00000519239.1_Missense_Mutation_p.E54K|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|CTC-308K20.1_ENST00000520067.1_RNA|RPL26L1_ENST00000265100.2_Missense_Mutation_p.E54K|RPL26L1_ENST00000519974.1_Missense_Mutation_p.E54K|CTC-308K20.2_ENST00000519755.1_lincRNA			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	54					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGGACGACGAGGTCCAGGT	0.612																																																	0													100	88	92					5																	172387036		2203	4300	6503	SO:0001583	missense	0			AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"L ribosomal proteins"	17050	protein-coding gene	gene with protein product			"ribosomal protein L26 pseudogene 1"	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.160G>A	5.37:g.172387036G>A	ENSP00000428223:p.Glu54Lys		B3KY82|D3DQM0	Missense_Mutation	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.E54K	ENST00000521476.1	37	c.160	CCDS4382.1	5	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465988	0.63625	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.81	3.93	0.45458	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.59436	1.845	0.58432	D	0.999999	P	0.34977	0.478	B	0.42771	0.397	T	0.65545	-0.6142	9	0.49607	T	0.09	.	12.717	0.57121	0.079:0.0:0.921:0.0	.	54	Q9UNX3	RL26L_HUMAN	K	54	.	ENSP00000265100:E54K	E	+	1	0	RPL26L1	172319642	1.000000	0.71417	0.993000	0.49108	0.047000	0.14425	7.454000	0.80714	1.248000	0.43934	0.643000	0.83706	GAG	RPL26L1	-	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	ENSG00000037241		0.612	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26L1	HGNC	protein_coding	OTTHUMT00000372559.1	-	0	61	0	G	NM_016093		172387036	1	tier1	-	no_errors	ENST00000265100	ensembl	human	known	74_37	missense	43.64	31	24	SNP	1.000	A	A	172387036	G	A	172387036	3	1	58	1	0	0	0	0	1	0	0	0	13619	1059	37	1	162	1	RPL26L1	5	172387036	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2067604	172387036	8528224	745	15128											
CPEB4	80315	genome.wustl.edu	37	chr5	173370047	173370047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggacatatgggcgaaGgagaggtaacattgttttta	14	10	13	4	1	0	1	0	0	0	1	0	4	0	2	0	4	2	3	0	4	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:173370047G>T	ENST00000265085.5	+	4	2731	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R409M|CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000522336.1_Intron|CPEB4_ENST00000520867.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	426					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TATGGGCGAAGGAGAGGTAAC	0.358																																																	0													193	199	197					5																	173370047		2203	4300	6503	SO:0001583	missense	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1277G>T	5.37:g.173370047G>T	ENSP00000265085:p.Arg426Met		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R426M	ENST00000265085.5	37	c.1277	CCDS4390.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.142582	0.94560	.	.	ENSG00000113742	ENST00000265085;ENST00000334035	T;T	0.51325	0.71;0.84	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.98	T	0.61884	-0.6971	10	0.44086	T	0.13	-16.7923	20.181	0.98201	0.0:0.0:1.0:0.0	.	409;426	Q17RY0-2;Q17RY0	.;CPEB4_HUMAN	M	426;409	ENSP00000265085:R426M;ENSP00000334533:R409M	ENSP00000265085:R426M	R	+	2	0	CPEB4	173302653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.772000	0.98984	2.840000	0.97914	0.655000	0.94253	AGG	CPEB4	-	NULL	ENSG00000113742		0.358	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	-	0	53	0	G	NM_030627		173370047	1	tier1	-	no_errors	ENST00000265085	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	173370047	G	T	173370047	3	4	58	1	0	0	0	0	1	0	0	0	3810	1000	35	3	1291	3	CPEB4	5	173370047	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	983011	173370047	7545213	746	15129											
CDHR2	54825	genome.wustl.edu	37	chr5	176008500	176008500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcgaccccgccctggagGgccgcattgtgctgacagtg	6	7	13	15	3	0	1	0	1	0	0	1	3	0	2	5	2	1	2	5	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176008500G>A	ENST00000510636.1	+	17	2249	c.1975G>A	c.(1975-1977)Ggc>Agc	p.G659S	CDHR2_ENST00000506348.1_Missense_Mutation_p.G659S|CDHR2_ENST00000261944.5_Missense_Mutation_p.G659S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGCCCTGGAGGGCCGCATTGT	0.622																																																	0													52	53	52					5																	176008500		2203	4300	6503	SO:0001583	missense	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1975G>A	5.37:g.176008500G>A	ENSP00000424565:p.Gly659Ser		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G659S	ENST00000510636.1	37	c.1975	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935680	0.92458	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60797	0.16;0.16;0.16	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75961	0.3921	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75833	-0.3178	9	0.48119	T	0.1	-44.3813	18.9133	0.92494	0.0:0.0:1.0:0.0	.	659	Q9BYE9	CDHR2_HUMAN	S	659	ENSP00000424565:G659S;ENSP00000261944:G659S;ENSP00000421078:G659S	ENSP00000261944:G659S	G	+	1	0	CDHR2	175941106	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	8.216000	0.89764	2.575000	0.86900	0.549000	0.68633	GGC	CDHR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000074276		0.622	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	-	0	96	0	G	NM_017675		176008500	1	tier1	-	no_errors	ENST00000261944	ensembl	human	known	74_37	missense	42.39	53	39	SNP	0.997	A	A	176008500	G	A	176008500	3	1	58	1	0	0	0	0	1	0	0	0	3126	1232	43	3	2037	3	CDHR2	5	176008500	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2638453	176008500	4906760	747	15130											
EIF4E1B	253314	genome.wustl.edu	37	chr5	176070674	176070674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagaatgaccgcagcCgggcctggcaggacaacctg	10	6	12	13	2	2	2	1	1	1	1	2	3	2	3	4	3	2	2	4	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176070674C>T	ENST00000318682.6	+	5	819	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.R79W	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	79					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCGCAGCCGGGCCTGGCA	0.647																																																	0													26	30	29					5																	176070674		2035	4170	6205	SO:0001583	missense	0				CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.235C>T	5.37:g.176070674C>T	ENSP00000323714:p.Arg79Trp			Missense_Mutation	SNP	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.R79W	ENST00000318682.6	37	c.235	CCDS47345.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055725	0.75960	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T;T	0.43688	0.94;0.94;0.94	5.33	2.21	0.28008	Translation Initiation factor eIF- 4e-like  domain (2);	0.266912	0.31312	N	0.007867	T	0.61324	0.2338	M	0.70275	2.135	0.39318	D	0.965207	D	0.89917	1.0	D	0.76071	0.987	T	0.67772	-0.5584	10	0.87932	D	0	.	13.774	0.63041	0.4411:0.5589:0.0:0.0	.	79	A6NMX2	I4E1B_HUMAN	W	79	ENSP00000323714:R79W;ENSP00000421009:R79W;ENSP00000427633:R79W	ENSP00000323714:R79W	R	+	1	2	EIF4E1B	176003280	1.000000	0.71417	0.825000	0.32803	0.995000	0.86356	1.937000	0.40193	0.621000	0.30232	0.491000	0.48974	CGG	EIF4E1B	-	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	ENSG00000175766		0.647	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E1B	HGNC	protein_coding	OTTHUMT00000372187.1	-	0	56	0	C	NM_001099408		176070674	1	tier1	-	no_errors	ENST00000318682	ensembl	human	known	74_37	missense	49.15	30	29	SNP	1.000	T	T	176070674	C	T	176070674	3	4	58	1	0	0	0	0	1	0	0	0	5045	643	23	1	245	1	EIF4E1B	5	176070674	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	62174	176070674	4844586	748	15131											
NSD1	64324	genome.wustl.edu	37	chr5	176721015	176721015	+	Frame_Shift_Del	DEL	G	G	-																															ggcccaatcctctggaacctGgggagatccgtgagtatgtg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176721015delG	ENST00000439151.2	+	23	6691	c.6646delG	c.(6646-6648)gggfs	p.G2216fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.G2113fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.G1947fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.G1947fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2216	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGGAACCTGGGGAGATCCG	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													80	80	80					5																	176721015		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6646delG	5.37:g.176721015delG	ENSP00000395929:p.Gly2216fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E2217fs	ENST00000439151.2	37	c.6646	CCDS4412.1	5																																																																																			NSD1	-	NULL	ENSG00000165671		0.562	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0	70	0	G	NM_172349		176721015	1	tier1		no_errors	ENST00000439151	ensembl	human	known	74_37	frame_shift_del	37.74	33	20	DEL	1.000	-	-	176721015	G	-	176721015	7	5	58	1	0	1	0	1	0	0	0	0	10708	1348	47	0	6732	0	NSD1	5	176721015	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	650341	176721015	4194245	749	15132											
NSD1	64324	genome.wustl.edu	37	chr5	176721680	176721680	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccttgtagctaaagaaaaAgcactgaggcctgtggacca	14	7	10	10	0	0	2	0	1	0	1	0	3	0	3	3	2	2	3	3	2	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176721680A>G	ENST00000439151.2	+	23	7356	c.7311A>G	c.(7309-7311)aaA>aaG	p.K2437K	NSD1_ENST00000361032.4_Silent_p.K2334K|NSD1_ENST00000347982.4_Silent_p.K2168K|NSD1_ENST00000354179.4_Silent_p.K2168K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2437					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTAAAGAAAAAGCACTGAGGC	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													52	58	56					5																	176721680		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7311A>G	5.37:g.176721680A>G			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.K2437	ENST00000439151.2	37	c.7311	CCDS4412.1	5																																																																																			NSD1	-	NULL	ENSG00000165671		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0	18	0	A	NM_172349		176721680	1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	silent	30.30	22	10	SNP	0.996	G	G	176721680	A	G	176721680	2	3	58	1	0	0	0	0	0	0	0	1	10708	69	3	4		4	NSD1	5	176721680	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	665	176721680	4193580	750	15133											
GFPT2	9945	genome.wustl.edu	37	chr5	179745817	179745817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatttgctgcagttccaTctgcaaggtctggatggctc	7	13	11	10	0	2	1	0	1	2	0	4	2	3	2	1	3	3	5	1	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:179745817T>C	ENST00000253778.8	-	10	1103	c.934A>G	c.(934-936)Atg>Gtg	p.M312V	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	312					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGCAGTTCCATCTGCAAGGTC	0.612																																																	0													62	69	67					5																	179745817		2129	4239	6368	SO:0001583	missense	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.934A>G	5.37:g.179745817T>C	ENSP00000253778:p.Met312Val		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.M312V	ENST00000253778.8	37	c.934	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420254	0.62622	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T	0.38887	1.11	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.75150	2.29	0.80722	D	1	B	0.26975	0.165	B	0.27608	0.081	T	0.39461	-0.9613	9	.	.	.	-29.7452	15.82	0.78633	0.0:0.0:0.0:1.0	.	312	O94808	GFPT2_HUMAN	V	312;214	ENSP00000253778:M312V	.	M	-	1	0	GFPT2	179678423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.187000	0.72039	2.155000	0.67459	0.459000	0.35465	ATG	GFPT2	-	tigrfam_GlmS_trans	ENSG00000131459		0.612	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	-	0	58	0	T	NM_005110		179745817	-1	tier1	-	no_errors	ENST00000253778	ensembl	human	known	74_37	missense	52.50	19	21	SNP	1.000	C	C	179745817	T	C	179745817	3	2	58	1	0	0	0	0	1	0	0	0	6372	1435	50	4	1154	4	GFPT2	5	179745817	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3024137	179745817	1169443	751	15134											
TRIM41	90933	genome.wustl.edu	37	chr5	180662356	180662356	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttctacctccatagacCggccagaatttagcttcact	11	12	5	13	1	2	2	1	0	1	2	3	2	3	2	4	1	2	1	4	1	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:180662356C>T	ENST00000315073.5	+	0	3184				TRIM41_ENST00000351937.5_Missense_Mutation_p.R512W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATAGACCGGCCAGAATT	0.433																																																	0													84	80	81					5																	180662356		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19013	protein-coding gene	gene with protein product	"RING-finger protein that interacts with C kinase"	610530	"tripartite motif-containing 41"			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.*581C>T	5.37:g.180662356C>T			B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R512W	ENST00000315073.5	37	c.1534	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111688	0.37242	.	.	ENSG00000146063	ENST00000351937	T	0.40225	1.04	4.45	0.542	0.17174	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	9	0.66056	D	0.02	.	6.3888	0.21576	0.0:0.3531:0.0:0.6469	.	512	Q8WV44-2	.	W	512	ENSP00000336749:R512W	ENSP00000336749:R512W	R	+	1	2	TRIM41	180594962	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	0.109000	0.15417	0.089000	0.17243	0.561000	0.74099	CGG	TRIM41	-	pfscan_B30.2/SPRY	ENSG00000146063		0.433	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	-	0	56	0	C	NM_201627		180662356	1	tier1	-	no_errors	ENST00000351937	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.997	T	T	180662356	C	T	180662356	1	4	58	0	1	0	0	0	0	0	0	0	16564	643	23	1		1	TRIM41	5	180662356	3'UTR	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	916539	180662356	252904	752	15135											
TRIM52	84851	genome.wustl.edu	37	chr5	180687593	180687593	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgtcccatccatccatGgcccccaccgcttcctcgtc	5	8	7	21	3	0	0	0	0	0	0	6	1	4	0	8	1	1	1	8	1	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:180687593G>T	ENST00000327767.4	-	1	526	c.222C>A	c.(220-222)gcC>gcA	p.A74A	TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	74	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ATCCATCCATGGCCCCCACCG	0.577																																																	0													163	123	137					5																	180687593		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19024	protein-coding gene	gene with protein product			"tripartite motif-containing 52"				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.222C>A	5.37:g.180687593G>T				Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A74	ENST00000327767.4	37	c.222	CCDS4467.1	5																																																																																			TRIM52	-	smart_Znf_RING	ENSG00000183718		0.577	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3		0	73	0	G	NM_032765		180687593	-1			no_errors	ENST00000327767	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.337	T	T	180687593	G	T	180687593	2	4	58	1	0	0	0	0	0	0	0	1	16575	1335	47	3		3	TRIM52	5	180687593	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	25237	180687593	227667	753	15136											
RPP40	10799	genome.wustl.edu	37	chr6	4996642	4996642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaatatgacatcattgtcGattcttctgaaccttaaaaa	17	13	4	7	1	3	2	1	2	2	0	4	3	3	2	1	0	1	0	1	0	7	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:4996642G>A	ENST00000380051.2	-	6	616	c.572C>T	c.(571-573)tCg>tTg	p.S191L	RPP40_ENST00000319533.5_Missense_Mutation_p.S168L|RPP40_ENST00000464646.1_Missense_Mutation_p.S131L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	191					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CATCATTGTCGATTCTTCTGA	0.448																																																	0													101	98	99					6																	4996642		2203	4300	6503	SO:0001583	missense	0			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"ribonuclease P1", "ribonuclease P 40kDa subunit"	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.572C>T	6.37:g.4996642G>A	ENSP00000369391:p.Ser191Leu		Q5VX97|Q8WVK8	Missense_Mutation	SNP	pfam_RNase_P_Rpp40	p.S191L	ENST00000380051.2	37	c.572	CCDS34333.1	6	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407280	0.25378	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.44083	0.93;0.93;0.93	5.23	5.23	0.72850	.	0.387690	0.24492	N	0.038045	T	0.28466	0.0704	M	0.72118	2.19	0.34829	D	0.739456	B;B	0.26041	0.14;0.103	B;B	0.17098	0.017;0.01	T	0.20075	-1.0286	10	0.20519	T	0.43	0.1427	17.7737	0.88501	0.0:0.0:1.0:0.0	.	168;191	O75818-2;O75818	.;RPP40_HUMAN	L	191;168;131	ENSP00000369391:S191L;ENSP00000317998:S168L;ENSP00000419431:S131L	ENSP00000317998:S168L	S	-	2	0	RPP40	4941641	0.995000	0.38212	0.032000	0.17829	0.008000	0.06430	2.528000	0.45624	2.432000	0.82394	0.650000	0.86243	TCG	RPP40	-	pfam_RNase_P_Rpp40	ENSG00000124787		0.448	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPP40	HGNC	protein_coding	OTTHUMT00000039733.2	-	0	45	0	G	NM_006638		4996642	-1	tier1	-	no_errors	ENST00000380051	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.662	A	A	4996642	G	A	4996642	3	1	58	1	0	0	0	0	1	0	0	0	13659	1059	37	1	531	1	RPP40	6	4996642	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		4996642	166118425	754	15137											
SYCP2L	221711	genome.wustl.edu	37	chr6	10903158	10903158	+	Frame_Shift_Del	DEL	A	A	-																															gctgtccctcgagaagagagAaaaaaattccctttgtcaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:10903158delA	ENST00000283141.6	+	8	899	c.603delA	c.(601-603)agafs	p.R201fs	SYCP2L_ENST00000543878.1_Frame_Shift_Del_p.R42fs|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	201						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAGAAGAGAGAAAAAAATTCC	0.393																																																	0																																										SO:0001589	frameshift_variant	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.603delA	6.37:g.10903158delA	ENSP00000283141:p.Arg201fs		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Frame_Shift_Del	DEL	NULL	p.K203fs	ENST00000283141.6	37	c.603	CCDS43423.1	6																																																																																			SYCP2L	-	NULL	ENSG00000153157		0.393	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3		0	65	0	A	NM_194299		10903158	1	tier1		no_errors	ENST00000283141	ensembl	human	known	74_37	frame_shift_del	46.43	30	26	DEL	0.010	-	-	10903158	A	-	10903158	7	5	58	1	0	1	0	1	0	0	0	0	15480	243	9	0	633	0	SYCP2L	6	10903158	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	5906516	10903158	160211909	755	15138											
ELOVL2	54898	genome.wustl.edu	37	chr6	10995330	10995330	+	Frame_Shift_Del	DEL	T	T	-																															aagaaaagtaatctgactcgTttttttccgcaaaacgaaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:10995330delT	ENST00000354666.3	-	5	498	c.415delA	c.(415-417)acgfs	p.T139fs		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	139					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATCTGACTCGTTTTTTTCCGC	0.368																																																	0													130	124	126					6																	10995330		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.415delA	6.37:g.10995330delT	ENSP00000346693:p.Thr139fs		Q6P9E1|Q86W94	Frame_Shift_Del	DEL	pfam_GNS1_SUR4	p.T139fs	ENST00000354666.3	37	c.415	CCDS4518.1	6																																																																																			ELOVL2	-	pfam_GNS1_SUR4	ENSG00000197977		0.368	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	HGNC	protein_coding	OTTHUMT00000039849.1		0	54	0	T			10995330	-1	tier1		no_errors	ENST00000354666	ensembl	human	known	74_37	frame_shift_del	13.89	31	5	DEL	1.000	-	-	10995330	T	-	10995330	7	5	58	1	0	1	0	1	0	0	0	0	5090	1725	60	0	491	0	ELOVL2	6	10995330	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	92172	10995330	160119737	756	15139											
DTNBP1	84062	genome.wustl.edu	37	chr6	15523213	15523213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtcccaatttaagagTcgctgtcctcaccaccatcc	9	10	5	17	1	1	1	1	0	0	1	5	1	4	1	6	0	0	1	6	0	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:15523213T>C	ENST00000344537.5	-	10	1221	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G	DTNBP1_ENST00000355917.3_Missense_Mutation_p.D351G|DTNBP1_ENST00000462989.2_Missense_Mutation_p.D194G	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	350					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AATTTAAGAGTCGCTGTCCTC	0.537									Hermansky-Pudlak syndrome																																								0													131	115	120					6																	15523213		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"Biogenesis of lysosomal organelles complex-1 subunits"	17328	protein-coding gene	gene with protein product	"dysbindin-1", "biogenesis of lysosomal organelles complex-1, subunit 8"	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.1049A>G	6.37:g.15523213T>C	ENSP00000341680:p.Asp350Gly		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.D351G	ENST00000344537.5	37	c.1052	CCDS4534.1	6	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249261	0.59103	.	.	ENSG00000047579	ENST00000344537;ENST00000462989;ENST00000355917;ENST00000397306	T;T;T	0.39229	1.09;1.11;1.1	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000057	T	0.55752	0.1940	M	0.68952	2.095	0.51233	D	0.99991	D	0.89917	1.0	D	0.83275	0.996	T	0.62044	-0.6937	10	0.87932	D	0	.	15.4797	0.75514	0.0:0.0:0.0:1.0	.	350	Q96EV8	DTBP1_HUMAN	G	350;194;351;269	ENSP00000341680:D350G;ENSP00000427239:D194G;ENSP00000348183:D351G	ENSP00000341680:D350G	D	-	2	0	DTNBP1	15631192	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.721000	0.68477	2.049000	0.60858	0.533000	0.62120	GAC	DTNBP1	-	NULL	ENSG00000047579		0.537	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DTNBP1	HGNC	protein_coding	OTTHUMT00000039933.2	-	0	42	0	T	NM_032122		15523213	-1	tier1	-	no_errors	ENST00000355917	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	C	C	15523213	T	C	15523213	3	2	58	1	0	0	0	0	1	0	0	0	4804	1667	58	4	10	4	DTNBP1	6	15523213	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	4527883	15523213	155591854	757	15140											
TPMT	7172	genome.wustl.edu	37	chr6	18139903	18139903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaacctacctgggaaGatcaaaaatactgcaacagt	16	9	7	9	0	2	1	2	0	0	1	2	2	2	2	2	1	5	2	2	1	8	4	rs372997906		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:18139903G>T	ENST00000309983.4	-	5	497	c.412C>A	c.(412-414)Ctt>Att	p.L138I		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	138					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)	p.L138I(1)		large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	TACCTGGGAAGATCAAAAATA	0.363																																					Colon(190;1381 2791 16728 32493)												1	Substitution - Missense(1)	large_intestine(1)											69	72	71					6																	18139903		2203	4300	6503	SO:0001583	missense	0				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.412C>A	6.37:g.18139903G>T	ENSP00000312304:p.Leu138Ile		O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.L138I	ENST00000309983.4	37	c.412	CCDS4543.1	6	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196938	0.58126	.	.	ENSG00000137364	ENST00000309983	T	0.75704	-0.96	5.21	2.43	0.29744	.	0.211536	0.47455	D	0.000230	T	0.72526	0.3471	M	0.83852	2.665	0.35742	D	0.818766	B;B	0.24483	0.104;0.018	P;B	0.47864	0.559;0.196	T	0.71361	-0.4616	10	0.48119	T	0.1	-10.3876	3.3494	0.07147	0.3103:0.0:0.5146:0.1751	.	138;138	Q9BS45;P51580	.;TPMT_HUMAN	I	138	ENSP00000312304:L138I	ENSP00000312304:L138I	L	-	1	0	TPMT	18247882	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	1.342000	0.33919	0.577000	0.29470	-0.347000	0.07816	CTT	TPMT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	ENSG00000137364		0.363	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	HGNC	protein_coding	OTTHUMT00000039960.1		0	69	0	G			18139903	-1			no_errors	ENST00000309983	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.999	T	T	18139903	G	T	18139903	3	4	58	1	0	0	0	0	1	0	0	0	16457	942	33	3	345	3	TPMT	6	18139903	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2616690	18139903	152975164	758	15141											
KDM1B	221656	genome.wustl.edu	37	chr6	18212815	18212815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctatcaacagcttaGgcgcaggcatcattgaaaag	14	8	11	8	1	2	2	2	2	0	0	2	2	2	2	0	3	2	4	0	3	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:18212815G>T	ENST00000297792.5	+	14	1444	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Missense_Mutation_p.G656C|KDM1B_ENST00000397244.1_Missense_Mutation_p.G424C			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	655					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAACAGCTTAGGCGCAGGCAT	0.413																																																	0													182	159	167					6																	18212815		2203	4300	6503	SO:0001583	missense	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1267G>T	6.37:g.18212815G>T	ENSP00000297792:p.Gly423Cys		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.G656C	ENST00000297792.5	37	c.1966	CCDS34343.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.100552|5.100552	0.94245|0.94245	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.94417|.	-3.42;-3.42;-3.42|.	6.01|6.01	6.01|6.01	0.97437|0.97437	Amine oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87237|.	0.6127|.	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|.	0.89645|.	0.3865|.	10|.	0.87932|.	D|.	0|.	-8.0814|-8.0814	20.5211|20.5211	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	472;655;423|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	C|Y	656;424;423;655|472	ENSP00000373522:G656C;ENSP00000380419:G424C;ENSP00000297792:G423C|.	ENSP00000297792:G423C|.	G|X	+|+	1|3	0|2	KDM1B|KDM1B	18320794|18320794	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.944000|0.944000	0.59088|0.59088	9.443000|9.443000	0.97568|0.97568	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GGC|TAG	KDM1B	-	pfam_Amino_oxidase	ENSG00000165097		0.413	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	-	0	98	0	G	NM_153042		18212815	1	tier1	-	no_errors	ENST00000388870	ensembl	human	known	74_37	missense	6.36	103	7	SNP	1.000	T	T	18212815	G	T	18212815	3	4	58	1	0	0	0	0	1	0	0	0	8150	1000	35	3	1313	3	KDM1B	6	18212815	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	72912	18212815	152902252	759	15142											
MBOAT1	154141	genome.wustl.edu	37	chr6	20152936	20152936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctggttgtaccaggaCgtaagtagatgcgaaaccag	13	7	13	8	2	0	2	0	0	0	2	0	4	0	3	2	2	4	5	2	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:20152936C>T	ENST00000324607.7	-	2	328	c.164G>A	c.(163-165)cGt>cAt	p.R55H	MBOAT1_ENST00000536798.1_Missense_Mutation_p.R55H|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	55					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGTACCAGGACGTAAGTAGAT	0.453																																																	0													95	90	92					6																	20152936		2203	4300	6503	SO:0001583	missense	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.164G>A	6.37:g.20152936C>T	ENSP00000324944:p.Arg55His		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R55H	ENST00000324607.7	37	c.164	CCDS34346.1	6	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653731	0.03480	.	.	ENSG00000172197	ENST00000324607;ENST00000536798	T;T	0.23348	2.67;1.91	5.37	-0.262	0.12958	.	0.673314	0.15911	N	0.238582	T	0.02533	0.0077	N	0.12569	0.235	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.44997	-0.9291	10	0.06494	T	0.89	-15.3769	6.2831	0.21019	0.0:0.4867:0.1367:0.3767	.	55	Q6ZNC8	MBOA1_HUMAN	H	55	ENSP00000324944:R55H;ENSP00000439814:R55H	ENSP00000324944:R55H	R	-	2	0	MBOAT1	20260915	0.001000	0.12720	0.547000	0.28179	0.551000	0.35334	0.194000	0.17135	-0.291000	0.09012	0.655000	0.94253	CGT	MBOAT1	-	NULL	ENSG00000172197		0.453	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	-	0	48	0	C			20152936	-1	tier1	-	no_errors	ENST00000324607	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.742	T	T	20152936	C	T	20152936	3	4	58	1	0	0	0	0	1	0	0	0	9394	536	19	1	1371	1	MBOAT1	6	20152936	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1940121	20152936	150962131	760	15143											
CDKAL1	54901	genome.wustl.edu	37	chr6	20955679	20955679	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagatatggttgaccagtGaagacacgggggcttatggc	10	9	16	6	1	0	4	0	3	0	2	0	5	0	4	1	4	0	2	1	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:20955679G>T	ENST00000378610.1	+	8	782	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	CDKAL1_ENST00000378624.4_Nonsense_Mutation_p.E188*|CDKAL1_ENST00000274695.4_Nonsense_Mutation_p.E258*			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	258					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTTGACCAGTGAAGACACGGG	0.473																																																	0													132	128	129					6																	20955679		2203	4300	6503	SO:0001587	stop_gained	0			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.772G>T	6.37:g.20955679G>T	ENSP00000367873:p.Glu258*		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Nonsense_Mutation	SNP	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.E258*	ENST00000378610.1	37	c.772	CCDS4546.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.514094	0.98332	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9959	0.92812	0.0:0.0:1.0:0.0	.	.	.	.	X	258;188;258	.	ENSP00000274695:E258X	E	+	1	0	CDKAL1	21063658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.199000	0.95003	2.472000	0.83506	0.650000	0.86243	GAA	CDKAL1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	ENSG00000145996		0.473	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	-	0	59	0	G	NM_017774		20955679	1	tier1	-	no_errors	ENST00000274695	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T	T	20955679	G	T	20955679	4	4	58	1	0	0	0	0	0	1	0	0	3159	1291	45	3	802	3	CDKAL1	6	20955679	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	802743	20955679	150159388	761	15144											
MRS2	57380	genome.wustl.edu	37	chr6	24415278	24415278	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagatcaacacccttcagggGaaacttagcattttgcagcc	12	10	8	11	0	2	1	2	0	0	1	2	2	2	2	2	2	5	2	2	2	4	5	rs536649835		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:24415278G>T	ENST00000378386.3	+	6	699	c.606G>T	c.(604-606)ggG>ggT	p.G202G	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Silent_p.G205G|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Silent_p.G202G|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Silent_p.G152G	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	202						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CCCTTCAGGGGAAACTTAGCA	0.378																																																	0													98	92	94					6																	24415278		2203	4300	6503	SO:0001819	synonymous_variant	0			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.606G>T	6.37:g.24415278G>T			A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	NULL	p.G205	ENST00000378386.3	37	c.615	CCDS4552.1	6																																																																																			MRS2	-	NULL	ENSG00000124532		0.378	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MRS2	HGNC	protein_coding	OTTHUMT00000040002.1	-	0	52	0	G			24415278	1	tier1	-	no_errors	ENST00000443868	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	T	T	24415278	G	T	24415278	2	4	58	1	0	0	0	0	0	0	0	1	9889	1161	41	3		3	MRS2	6	24415278	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3459599	24415278	146699789	762	15145											
SLC17A2	10246	genome.wustl.edu	37	chr6	25916975	25916975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtatgttaggatgatggTgcacaaccagaaatggctga	13	10	13	5	0	0	3	0	2	0	1	0	4	0	4	1	4	2	4	1	4	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:25916975T>C	ENST00000265425.3	-	7	888	c.868A>G	c.(868-870)Acc>Gcc	p.T290A	SLC17A2_ENST00000377850.3_Missense_Mutation_p.T290A|SLC17A2_ENST00000360488.3_Missense_Mutation_p.T290A			O00624	NPT3_HUMAN	solute carrier family 17, member 2	290					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGGATGATGGTGCACAACCAG	0.448																																																	0													132	116	122					6																	25916975		2203	4300	6503	SO:0001583	missense	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.868A>G	6.37:g.25916975T>C	ENSP00000265425:p.Thr290Ala		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T290A	ENST00000265425.3	37	c.868		6	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400070	0.25291	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.58060	0.36;0.36;0.36	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000026	T	0.14960	0.0361	N	0.08118	0	0.31076	N	0.71245	B;B;B	0.29085	0.099;0.06;0.232	B;B;B	0.26517	0.065;0.036;0.07	T	0.07233	-1.0783	10	0.33940	T	0.23	.	10.6641	0.45719	0.0:0.0:0.0:1.0	.	290;290;290	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	A	290	ENSP00000353677:T290A;ENSP00000367081:T290A;ENSP00000265425:T290A	ENSP00000265425:T290A	T	-	1	0	SLC17A2	26024954	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.205000	0.42770	2.067000	0.61834	0.460000	0.39030	ACC	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.448	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	-	0	83	0	T			25916975	-1	tier1	-	no_errors	ENST00000377850	ensembl	human	known	74_37	missense	35.38	42	23	SNP	1.000	C	C	25916975	T	C	25916975	3	2	58	1	0	0	0	0	1	0	0	0	14462	1696	59	4	458	4	SLC17A2	6	25916975	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1501697	25916975	145198092	763	15146											
HFE	3077	genome.wustl.edu	37	chr6	26093113	26093113	+	Frame_Shift_Del	DEL	C	C	-																															gctggataaccttggctgtaCcccctggggaagagcagaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:26093113delC	ENST00000357618.5	+	4	939	c.817delC	c.(817-819)cccfs	p.P274fs	HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Frame_Shift_Del_p.P260fs|HFE_ENST00000470149.1_Frame_Shift_Del_p.P271fs|HFE_ENST00000397022.3_Frame_Shift_Del_p.P251fs|HFE_ENST00000317896.7_Frame_Shift_Del_p.P182fs|HFE_ENST00000349999.4_Frame_Shift_Del_p.P186fs|HFE_ENST00000309234.6_Frame_Shift_Del_p.P274fs|HFE_ENST00000488199.1_Frame_Shift_Del_p.P172fs|HFE_ENST00000336625.8_Frame_Shift_Del_p.P168fs|HFE_ENST00000353147.5_Frame_Shift_Del_p.P94fs	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	274	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGGCTGTACCCCCTGGGGA	0.557									Hemochromatosis																																								0													99	97	98					6																	26093113		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.817delC	6.37:g.26093113delC	ENSP00000417404:p.Pro274fs		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Frame_Shift_Del	DEL	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.P274fs	ENST00000357618.5	37	c.817	CCDS4578.1	6																																																																																			HFE	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000010704		0.557	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HFE	HGNC	protein_coding	OTTHUMT00000356133.1		0	98	0	C			26093113	1	tier1		no_errors	ENST00000357618	ensembl	human	known	74_37	frame_shift_del	66.13	21	41	DEL	0.000	-	-	26093113	C	-	26093113	7	5	58	1	0	1	0	1	0	0	0	0	7108	507	18	0	831	0	HFE	6	26093113	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	176138	26093113	145021954	764	15147	64	2									
HFE	3077	genome.wustl.edu	37	chr6	26093117	26093117	+	Missense_Mutation	SNP	C	C	T																															gataaccttggctgtaccccCtggggaagagcagagatata																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:26093117C>T	ENST00000357618.5	+	4	943	c.821C>T	c.(820-822)cCt>cTt	p.P274L	HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.P260L|HFE_ENST00000470149.1_Missense_Mutation_p.P271L|HFE_ENST00000397022.3_Missense_Mutation_p.P251L|HFE_ENST00000317896.7_Missense_Mutation_p.P182L|HFE_ENST00000349999.4_Missense_Mutation_p.P186L|HFE_ENST00000309234.6_Missense_Mutation_p.P274L|HFE_ENST00000488199.1_Missense_Mutation_p.P172L|HFE_ENST00000336625.8_Missense_Mutation_p.P168L|HFE_ENST00000353147.5_Missense_Mutation_p.P94L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	274	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTACCCCCTGGGGAAGAG	0.552									Hemochromatosis																																								0													92	89	90					6																	26093117		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"Immunoglobulin superfamily / C1-set domain containing"	4886	protein-coding gene	gene with protein product	"high Fe"	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.821C>T	6.37:g.26093117C>T	ENSP00000417404:p.Pro274Leu		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.P274L	ENST00000357618.5	37	c.821	CCDS4578.1	6	.	.	.	.	.	.	.	.	.	.	.	5.683	0.310517	0.10733	.	.	ENSG00000010704	ENST00000349999;ENST00000397022;ENST00000317896;ENST00000353147;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000488199;ENST00000309234	T;T;T;T;T;T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96	5.35	2.58	0.30949	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.434585	0.21692	N	0.070549	T	0.02047	0.0064	M	0.80183	2.485	0.29217	N	0.874162	B;B;B;B;B;B;B;B;B	0.23735	0.065;0.004;0.02;0.006;0.007;0.01;0.09;0.002;0.012	B;B;B;B;B;B;B;B;B	0.21360	0.021;0.003;0.009;0.017;0.028;0.009;0.034;0.009;0.014	T	0.32455	-0.9906	10	0.87932	D	0	.	4.8265	0.13419	0.1705:0.6533:0.0:0.1762	.	271;94;172;182;168;260;186;251;274	Q6B0J5;Q30201-6;Q30201-4;Q30201-7;Q30201-10;Q30201-3;Q30201-2;Q30201-5;Q30201	.;.;.;.;.;.;.;.;HFE_HUMAN	L	186;251;182;94;274;271;168;260;172;274	ENSP00000259699:P186L;ENSP00000380217:P251L;ENSP00000313776:P182L;ENSP00000312342:P94L;ENSP00000417404:P274L;ENSP00000419725:P271L;ENSP00000337819:P168L;ENSP00000420802:P260L;ENSP00000420559:P172L;ENSP00000311698:P274L	ENSP00000311698:P274L	P	+	2	0	HFE	26201096	0.002000	0.14202	0.011000	0.14972	0.065000	0.16274	1.157000	0.31724	0.469000	0.27268	0.655000	0.94253	CCT	HFE	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000010704		0.552	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HFE	HGNC	protein_coding	OTTHUMT00000356133.1		0	99	0	C			26093117	1			no_errors	ENST00000357618	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.018	T	T	26093117	C	T	26093117	3	4	58	1	0	0	0	0	1	0	0	0	7108	681	24	3	835	3	HFE	6	26093117	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4	26093117	145021950	765	15148	64	2									
HIST1H2AD	3013	genome.wustl.edu	37	chr6	26199227	26199228	+	Frame_Shift_Ins	INS	-	-	G																															gatggccagctgcaggtgtcINSgggggatgatgcgggtcttc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:26199227_26199228insG	ENST00000341023.1	-	1	243_244	c.244_245insC	c.(244-246)cgafs	p.R82fs	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	82						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CTGCAGGTGTCGGGGGATGATG	0.609																																																	0																																										SO:0001589	frameshift_variant	0			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"Histones / Replication-dependent"	4729	protein-coding gene	gene with protein product		602792	"H2A histone family, member G", "histone 1, H2ad"	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.245dupC	6.37:g.26199232_26199232dupG	ENSP00000341094:p.Arg82fs		A0PK91|P57754|Q6FGY6	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R82fs	ENST00000341023.1	37	c.245_244	CCDS4591.1	6																																																																																			HIST1H2AD	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000196866		0.609	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AD	HGNC	protein_coding	OTTHUMT00000040100.1		0	124	0	-	NM_021065		26199228	-1	tier1		no_errors	ENST00000341023	ensembl	human	known	74_37	frame_shift_ins	68.38	43	93	INS	1.000:1.000	G	G	26199228	-	G	26199227	7	5	58	1	0	1	1	0	0	0	0	0	7158	884	31	0	151	0	HIST1H2AD	6	26199227	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	106110	26199227	144915840	766	15149											
HIST1H2BN	8341	genome.wustl.edu	37	chr6	27806814	27806814	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaagtacaccagttcCaagtgagcccgcccaccgcg	10	5	9	17	3	1	1	1	1	0	0	2	1	2	1	6	0	2	2	6	0	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:27806814C>A	ENST00000396980.3	+	1	375	c.375C>A	c.(373-375)tcC>tcA	p.S125S	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Silent_p.S125S	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	125					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ACACCAGTTCCAAGTGAGCCC	0.637																																																	0													37	39	39					6																	27806814		2203	4296	6499	SO:0001819	synonymous_variant	0			Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"Histones / Replication-dependent"	4749	protein-coding gene	gene with protein product		602801	"H2B histone family, member D", "histone 1, H2bn"	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.375C>A	6.37:g.27806814C>A			B2R5L4|Q494S8|Q96FB7	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S125	ENST00000396980.3	37	c.375	CCDS4633.1	6																																																																																			HIST1H2BN	-	superfamily_Histone-fold	ENSG00000233822		0.637	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BN	HGNC	protein_coding	OTTHUMT00000043840.2		0	90	0	C	NM_003520		27806814	1			no_errors	ENST00000396980	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A	A	27806814	C	A	27806814	2	1	58	1	0	0	0	0	0	0	0	1	7180	581	21	3		3	HIST1H2BN	6	27806814	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1607587	27806814	143308253	767	15150											
TRIM27	5987	genome.wustl.edu	37	chr6	28889703	28889703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgttccccctgggccCgacgtctcttctttaaatct	4	14	8	15	2	3	0	0	0	3	0	5	1	4	0	4	1	1	1	4	1	2	4	rs149594206		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:28889703C>T	ENST00000377199.3	-	2	838	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TRIM27_ENST00000377194.3_Missense_Mutation_p.R161Q|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	161					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCCCTGGGCCCGACGTCTCTT	0.463			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0								C	GLN/ARG	0,3022		0,0,1511	164	176	172		482	3.4	1	6	dbSNP_134	172	1,5417		0,1,2708	no	missense	TRIM27	NM_006510.4	43	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	benign	161/514	28889703	1,8439	1511	2709	4220	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9975	protein-coding gene	gene with protein product		602165	"ret finger protein", "tripartite motif-containing 27"	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.482G>A	6.37:g.28889703C>T	ENSP00000366404:p.Arg161Gln		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.R161Q	ENST00000377199.3	37	c.482	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000875	0.54254	0.0	1.85E-4	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.61742	0.62;0.08	3.4	3.4	0.38934	.	0.000000	0.38005	N	0.001857	T	0.31167	0.0788	N	0.17594	0.5	0.27965	N	0.936622	P;D;B	0.60575	0.875;0.988;0.246	B;P;B	0.50825	0.138;0.651;0.015	T	0.07520	-1.0768	10	0.29301	T	0.29	.	10.6193	0.45470	0.0:1.0:0.0:0.0	.	228;161;161	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	Q	161	ENSP00000366404:R161Q;ENSP00000366399:R161Q	ENSP00000366399:R161Q	R	-	2	0	TRIM27	28997682	0.755000	0.28372	0.999000	0.59377	0.996000	0.88848	0.838000	0.27572	2.200000	0.70718	0.655000	0.94253	CGG	TRIM27	-	NULL	ENSG00000204713		0.463	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	-	0	59	0	C	NM_030950		28889703	-1	tier1	rs149594206	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	78.72	10	37	SNP	0.999	T	T	28889703	C	T	28889703	3	4	58	1	0	0	0	0	1	0	0	0	16549	652	23	1	1087	1	TRIM27	6	28889703	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1082889	28889703	142225364	768	15151											
DHX16	8449	genome.wustl.edu	37	chr6	30638221	30638221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcggccatcttgaggCgcttctgagcctcttcataa	6	13	8	14	2	4	2	1	2	3	0	6	2	5	2	3	2	1	1	3	2	1	5	rs200028840		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:30638221C>T	ENST00000376442.3	-	4	827	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	211					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R211H(1)		kidney(2)|ovary(2)	4						CATCTTGAGGCGCTTCTGAGC	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											33	32	32					6																	30638221		1507	2707	4214	SO:0001583	missense	0			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"DEAH-boxes"	2739	protein-coding gene	gene with protein product		603405	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.632G>A	6.37:g.30638221C>T	ENSP00000365625:p.Arg211His		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R211H	ENST00000376442.3	37	c.632	CCDS4685.1	6	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622872	0.87460	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.52754	0.65;0.65	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63488	0.911;0.915	T	0.73180	-0.4064	10	0.72032	D	0.01	.	17.0904	0.86620	0.0:1.0:0.0:0.0	.	151;211	B4DZ28;O60231	.;DHX16_HUMAN	H	211;151	ENSP00000365625:R211H;ENSP00000399101:R151H	ENSP00000365625:R211H	R	-	2	0	DHX16	30746200	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.793000	0.62474	2.560000	0.86352	0.455000	0.32223	CGC	DHX16	-	NULL	ENSG00000204560		0.517	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	-	0	24	0	C	NM_003587		30638221	-1	tier1	rs200028840	no_errors	ENST00000376442	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	T	T	30638221	C	T	30638221	3	4	58	1	0	0	0	0	1	0	0	0	4516	768	27	1	2561	1	DHX16	6	30638221	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1748518	30638221	140476846	769	15152											
FLOT1	10211	genome.wustl.edu	37	chr6	30697904	30697904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccccatggtcccactgccGctggacaccagtgtgatctt	6	9	10	16	1	1	1	0	1	1	0	2	2	2	2	5	2	1	1	5	2	0	1	rs150262104		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:30697904G>A	ENST00000376389.3	-	12	1369	c.1149C>T	c.(1147-1149)agC>agT	p.S383S	FLOT1_ENST00000456573.2_Silent_p.S335S	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	TCCCACTGCCGCTGGACACCA	0.562																																																	0													90	70	77					6																	30697904		1511	2709	4220	SO:0001819	synonymous_variant	0			AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.1149C>T	6.37:g.30697904G>A			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	pfam_Band_7,smart_Band_7	p.S383	ENST00000376389.3	37	c.1149	CCDS4688.1	6																																																																																			FLOT1	-	NULL	ENSG00000137312		0.562	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLOT1	HGNC	protein_coding	OTTHUMT00000076276.2	-	0	39	0	G			30697904	-1	tier1	-	no_errors	ENST00000376389	ensembl	human	known	74_37	silent	40.91	13	9	SNP	0.980	A	A	30697904	G	A	30697904	2	1	58	1	0	0	0	0	0	0	0	1	5958	1078	38	1		1	FLOT1	6	30697904	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	59683	30697904	140417163	770	15153											
PSORS1C1	170679	genome.wustl.edu	37	chr6	31107581	31107581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggaagaagctgccaggCtccagcaacctcagcccctt	9	6	9	17	1	1	1	1	0	0	1	3	2	3	2	6	2	5	3	6	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:31107581C>T	ENST00000259881.9	+	6	620	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	PSORS1C2_ENST00000259845.4_5'Flank|PSORS1C1_ENST00000547221.1_Missense_Mutation_p.L63F|PSORS1C1_ENST00000481450.2_Missense_Mutation_p.L48F	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	111										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						AGCTGCCAGGCTCCAGCAACC	0.567																																																	0													182	152	162					6																	31107581		1511	2709	4220	SO:0001583	missense	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.331C>T	6.37:g.31107581C>T	ENSP00000259881:p.Leu111Phe		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	NULL	p.L111F	ENST00000259881.9	37	c.331	CCDS34390.1	6	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917381	0.17982	.	.	ENSG00000204540	ENST00000259881;ENST00000547221;ENST00000481450	T;T;T	0.16196	2.36;2.36;2.36	1.38	1.38	0.22167	.	.	.	.	.	T	0.08891	0.0220	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.988	T	0.17228	-1.0376	9	0.87932	D	0	.	6.1894	0.20516	0.0:1.0:0.0:0.0	.	60;111	Q9UIG5-2;Q9UIG5	.;PS1C1_HUMAN	F	111;63;48	ENSP00000259881:L111F;ENSP00000449471:L63F;ENSP00000447158:L48F	ENSP00000259881:L111F	L	+	1	0	PSORS1C1	31215560	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.469000	0.06648	1.099000	0.41499	0.549000	0.68633	CTC	PSORS1C1	-	NULL	ENSG00000204540		0.567	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSORS1C1	HGNC	protein_coding	OTTHUMT00000076110.3	-	0	89	0	C	NM_014068		31107581	1	tier1	-	no_errors	ENST00000259881	ensembl	human	known	74_37	missense	40.43	56	38	SNP	0.007	T	T	31107581	C	T	31107581	3	4	58	1	0	0	0	0	1	0	0	0	12756	797	28	3	345	3	PSORS1C1	6	31107581	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	409677	31107581	140007486	771	15154											
SLC44A4	80736	genome.wustl.edu	37	chr6	31838592	31838592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaggacactcacgggCggccagccaggtctcctgca	7	5	15	14	2	2	0	1	0	1	0	3	1	2	1	3	5	2	2	3	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:31838592C>A	ENST00000229729.6	-	10	954	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	SLC44A4_ENST00000375562.4_Missense_Mutation_p.A270S|SLC44A4_ENST00000544672.1_Missense_Mutation_p.A236S	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	312					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTCACGGGCGGCCAGCCAG	0.692																																																	0													45	41	43					6																	31838592		1510	2707	4217	SO:0001583	missense	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"Solute carriers"	13941	protein-coding gene	gene with protein product		606107	"chromosome 6 open reading frame 29"	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.934G>T	6.37:g.31838592C>A	ENSP00000229729:p.Ala312Ser		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.A312S	ENST00000229729.6	37	c.934	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258483	0.39896	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22336	1.96;1.96;1.96	4.38	4.38	0.52667	.	0.211492	0.41938	D	0.000783	T	0.12220	0.0297	M	0.69823	2.125	0.23056	N	0.998361	B;B	0.14805	0.011;0.002	B;B	0.19946	0.016;0.027	T	0.05716	-1.0868	10	0.59425	D	0.04	.	9.9245	0.41483	0.0:0.9042:0.0:0.0958	.	270;312	E9PEK7;Q53GD3	.;CTL4_HUMAN	S	312;270;236	ENSP00000229729:A312S;ENSP00000364712:A270S;ENSP00000444109:A236S	ENSP00000229729:A312S	A	-	1	0	SLC44A4	31946571	0.535000	0.26370	0.181000	0.23098	0.802000	0.45316	1.641000	0.37197	2.445000	0.82738	0.561000	0.74099	GCC	SLC44A4	-	pfam_Choline_transptr-like	ENSG00000204385		0.692	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	-	0	27	0	C			31838592	-1	tier1	-	no_errors	ENST00000229729	ensembl	human	known	74_37	missense	76.92	6	20	SNP	0.470	A	A	31838592	C	A	31838592	3	1	58	1	0	0	0	0	1	0	0	0	14683	768	27	2	1246	2	SLC44A4	6	31838592	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	731011	31838592	139276475	772	15155											
RDBP	7936	genome.wustl.edu	37	chr6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-																															tcctcttcctcgctcagtccGgggggtatcaccaacatggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:31926206delG	ENST00000375429.3	-	2	244	c.18delC	c.(16-18)cccfs	p.P6fs	SKIV2L_ENST00000375394.2_5'Flank|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000544581.1_5'Flank|NELFE_ENST00000444811.2_Frame_Shift_Del_p.P6fs|NELFE_ENST00000375425.5_Frame_Shift_Del_p.P13fs	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	6					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CGCTCAGTCCGGGGGGTATCA	0.547																																																	0													157	147	150					6																	31926206		1511	2709	4220	SO:0001589	frameshift_variant	0			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.18delC	6.37:g.31926206delG	ENSP00000364578:p.Pro6fs		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G7fs	ENST00000375429.3	37	c.18	CCDS4730.1	6																																																																																			NELFE	-	NULL	ENSG00000204356		0.547	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELFE	HGNC	protein_coding	OTTHUMT00000076047.4		0	89	0	G			31926206	-1	tier1		no_errors	ENST00000375429	ensembl	human	known	74_37	frame_shift_del	41.10	43	30	DEL	0.996	-	-	31926206	G	-	31926206	7	5	58	1	0	1	0	1	0	0	0	0	13233	1103	39	0	1164	0	RDBP	6	31926206	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	87614	31926206	139188861	773	15156											
NOTCH4	4855	genome.wustl.edu	37	chr6	32164716	32164716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acataccccatttatctctgGcccccacgtctgcttgggct	6	12	7	16	1	2	0	0	0	2	0	3	0	2	0	4	2	2	2	4	2	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32164716G>A	ENST00000375023.3	-	28	5324	c.5186C>T	c.(5185-5187)gCc>gTc	p.A1729V	NOTCH4_ENST00000443903.2_Missense_Mutation_p.A138V|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1729					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTTATCTCTGGCCCCCACGTC	0.552																																																	0													256	250	252					6																	32164716		1511	2709	4220	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5186C>T	6.37:g.32164716G>A	ENSP00000364163:p.Ala1729Val		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A1729V	ENST00000375023.3	37	c.5186	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.111545	0.94339	.	.	ENSG00000204301	ENST00000375023;ENST00000443903	T;T	0.71698	-0.29;-0.59	4.96	4.96	0.65561	Ankyrin repeat-containing domain (4);	0.000000	0.45126	D	0.000398	T	0.71634	0.3363	L	0.31578	0.945	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.76165	-0.3059	10	0.87932	D	0	.	15.7422	0.77910	0.0:0.0:1.0:0.0	.	138;138;1729;1728	B4DEL8;B4DFM3;Q99466;B0S882	.;.;NOTC4_HUMAN;.	V	1729;138	ENSP00000364163:A1729V;ENSP00000398123:A138V	ENSP00000364163:A1729V	A	-	2	0	NOTCH4	32272694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.109000	0.94291	2.584000	0.87258	0.561000	0.74099	GCC	NOTCH4	-	pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000204301		0.552	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0	65	0	G			32164716	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	37.04	32	20	SNP	1.000	A	A	32164716	G	A	32164716	3	1	58	1	0	0	0	0	1	0	0	0	10590	1203	42	3	837	3	NOTCH4	6	32164716	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	238510	32164716	138950351	774	15157											
NOTCH4	4855	genome.wustl.edu	37	chr6	32181998	32181998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagctctgcctcacactctgGccccgtccaacccacgtcac	7	8	6	20	2	4	0	2	0	2	0	5	0	5	0	5	1	3	1	5	1	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32181998G>T	ENST00000375023.3	-	13	2194	c.2056C>A	c.(2056-2058)Cca>Aca	p.P686T	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	686	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACACTCTGGCCCCGTCCAA	0.592																																																	0													112	112	112					6																	32181998		2203	4300	6503	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2056C>A	6.37:g.32181998G>T	ENSP00000364163:p.Pro686Thr		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P686T	ENST00000375023.3	37	c.2056	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	6.114	0.389216	0.11581	.	.	ENSG00000204301	ENST00000375023	T	0.74842	-0.88	4.18	3.27	0.37495	EGF-like region, conserved site (2);	0.371203	0.19818	N	0.105372	T	0.30510	0.0767	N	0.05441	-0.05	0.50039	D	0.99984	B	0.26902	0.163	B	0.21151	0.033	T	0.14364	-1.0475	10	0.13470	T	0.59	.	10.3178	0.43747	0.0:0.3914:0.6086:0.0	.	686	Q99466	NOTC4_HUMAN	T	686	ENSP00000364163:P686T	ENSP00000364163:P686T	P	-	1	0	NOTCH4	32289976	0.001000	0.12720	0.990000	0.47175	0.324000	0.28378	0.531000	0.23052	0.917000	0.36895	0.561000	0.74099	CCA	NOTCH4	-	pirsf_Notch,smart_EG-like_dom	ENSG00000204301		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0	14	0	G			32181998	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.817	T	T	32181998	G	T	32181998	3	4	58	1	0	0	0	0	1	0	0	0	10590	1203	42	3	4027	3	NOTCH4	6	32181998	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	17282	32181998	138933069	775	15158											
TAP1	6890	genome.wustl.edu	37	chr6	32818895	32818895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaatcactcagggtggaCgtgtcctctgttacccgaga	10	9	12	10	2	3	2	2	0	1	2	4	5	4	3	2	2	1	1	2	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32818895C>T	ENST00000354258.4	-	4	1217	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.T91T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	352	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TCAGGGTGGACGTGTCCTCTG	0.502																																																	0													123	87	100					6																	32818895		1511	2709	4220	SO:0001819	synonymous_variant	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"ATP binding cassette transporters / subfamily B"	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1056G>A	6.37:g.32818895C>T			Q16149|Q96CP4	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2	p.T352	ENST00000354258.4	37	c.1056	CCDS4758.1	6																																																																																			TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2	ENSG00000168394		0.502	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	-	0	39	0	C	NM_000593		32818895	-1	tier1	-	no_errors	ENST00000354258	ensembl	human	known	74_37	silent	88.89	5	40	SNP	0.000	T	T	32818895	C	T	32818895	2	4	58	1	0	0	0	0	0	0	0	1	15597	523	19	1		1	TAP1	6	32818895	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	636897	32818895	138296172	776	15159											
PSMB9	5698	genome.wustl.edu	37	chr6	32827216	32827216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagccgggatggctcaagCgggggtgtcatctacctggt	7	9	16	9	2	3	1	2	1	1	0	3	2	3	2	2	5	3	1	2	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32827216C>T	ENST00000374859.2	+	6	636	c.567C>T	c.(565-567)agC>agT	p.S189S	PSMB9_ENST00000395330.1_Silent_p.S166S	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	ATGGCTCAAGCGGGGGTGTCA	0.498																																																	0													202	209	207					6																	32827216		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"Proteasome (prosome, macropain) subunits"	9546	protein-coding gene	gene with protein product		177045	"proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)", "large multifunctional peptidase 2"	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.567C>T	6.37:g.32827216C>T			B0V0T1|Q16523|Q5JNW4	Silent	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.S189	ENST00000374859.2	37	c.567	CCDS4759.1	6																																																																																			PSMB9	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	ENSG00000240065		0.498	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB9	HGNC	protein_coding	OTTHUMT00000076624.5	-	0	57	0	C	NM_002800		32827216	1	tier1	-	no_errors	ENST00000374859	ensembl	human	known	74_37	silent	77.78	14	49	SNP	0.998	T	T	32827216	C	T	32827216	2	4	58	1	0	0	0	0	0	0	0	1	12726	767	27	1		1	PSMB9	6	32827216	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8321	32827216	138287851	777	15160											
HLA-DMB	3109	genome.wustl.edu	37	chr6	32906673	32906673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgttgaaggagatgcagTatgtgaaatcctttggagtc	10	13	12	6	0	0	3	0	2	0	1	2	5	1	4	2	2	1	3	2	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32906673T>C	ENST00000418107.2	-	2	387	c.125A>G	c.(124-126)tAc>tGc	p.Y42C	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.Y42C|AL645941.1_ENST00000390777.1_RNA|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.Y74C	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	42	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGAGATGCAGTATGTGAAATC	0.527																																																	0													120	129	126					6																	32906673		1510	2709	4219	SO:0001583	missense	0				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.125A>G	6.37:g.32906673T>C	ENSP00000398890:p.Tyr42Cys		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y42C	ENST00000418107.2	37	c.125	CCDS4760.1	6	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770574	0.49680	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.00348	8.0;8.0;8.0	5.07	3.87	0.44632	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.421784	0.20316	N	0.094731	T	0.00300	0.0009	M	0.71581	2.175	0.20638	N	0.99988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.986	T	0.44967	-0.9293	9	.	.	.	.	7.8451	0.29421	0.1842:0.0:0.0:0.8158	.	42;42;51	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	C	42;42;42;74	ENSP00000398890:Y42C;ENSP00000391010:Y42C;ENSP00000412457:Y74C	.	Y	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014651	0.428000	0.25522	0.052000	0.19188	0.834000	0.47266	1.301000	0.33447	0.894000	0.36317	0.519000	0.50382	TAC	HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000242574		0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	-	0	77	0	T	NM_002118		32906673	-1	tier1	-	no_errors	ENST00000418107	ensembl	human	known	74_37	missense	72.22	15	39	SNP	0.273	C	C	32906673	T	C	32906673	3	2	58	1	0	0	0	0	1	0	0	0	7226	1638	57	4	686	4	HLA-DMB	6	32906673	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	79457	32906673	138208394	778	15161											
COL11A2	1302	genome.wustl.edu	37	chr6	33152023	33152023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaatcgtagggcccttcagGggggtctgtgccaccctccc	5	9	13	14	1	2	0	1	0	1	0	4	0	3	0	4	4	1	2	4	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:33152023G>T	ENST00000341947.2	-	8	1245	c.1018C>A	c.(1018-1020)Cct>Act	p.P340T	COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.P293T|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.P319T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P314T|COL11A2_ENST00000374708.4_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	340	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGCCCTTCAGGGGGGTCTGTG	0.617																																					Melanoma(1;90 116 3946 5341 17093)												0													63	65	64					6																	33152023		2203	4300	6503	SO:0001583	missense	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1018C>A	6.37:g.33152023G>T	ENSP00000339915:p.Pro340Thr		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P340T	ENST00000341947.2	37	c.1018		6	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138111	0.21123	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.89875	-2.23;-2.29;-2.31;-2.29;-2.58	3.74	3.74	0.42951	.	0.585597	0.15681	N	0.249935	T	0.71099	0.3300	N	0.05078	-0.115	0.80722	D	1	D	0.58268	0.982	P	0.49853	0.624	T	0.69363	-0.5165	10	0.13470	T	0.59	.	11.3108	0.49362	0.0:0.0:1.0:0.0	.	340	P13942	COBA2_HUMAN	T	340;319;314;293;340	ENSP00000339915:P340T;ENSP00000350079:P319T;ENSP00000363846:P314T;ENSP00000363845:P293T;ENSP00000405520:P340T	ENSP00000339915:P340T	P	-	1	0	COL11A2	33260001	0.986000	0.35501	0.896000	0.35187	0.644000	0.38419	1.465000	0.35299	2.360000	0.80028	0.549000	0.68633	CCT	COL11A2	-	NULL	ENSG00000204248		0.617	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	HGNC	protein_coding		-	0	51	0	G			33152023	-1	tier1	-	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.910	T	T	33152023	G	T	33152023	3	4	58	1	0	0	0	0	1	0	0	0	3675	1232	43	3	4428	3	COL11A2	6	33152023	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	245350	33152023	137963044	779	15162											
ZBTB22	9278	genome.wustl.edu	37	chr6	33283669	33283669	+	Frame_Shift_Del	DEL	C	C	-																															ccactggaaccctggagctaCcccctagttcttcatcttca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:33283669delC	ENST00000431845.2	-	2	1176	c.1025delG	c.(1024-1026)ggtfs	p.G342fs	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G342fs|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCTGGAGCTACCCCCTAGTTC	0.587																																																	0													98	80	86					6																	33283669		2203	4300	6503	SO:0001589	frameshift_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13085	protein-coding gene	gene with protein product		611439	"zinc finger protein 297"	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1025delG	6.37:g.33283669delC	ENSP00000407545:p.Gly342fs		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G342fs	ENST00000431845.2	37	c.1025	CCDS4775.1	6																																																																																			ZBTB22	-	NULL	ENSG00000236104		0.587	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2		0	48	0	C			33283669	-1	tier1		no_errors	ENST00000418724	ensembl	human	known	74_37	frame_shift_del	33.33	16	8	DEL	0.026	-	-	33283669	C	-	33283669	7	5	58	1	0	1	0	1	0	0	0	0	17578	507	18	0	883	0	ZBTB22	6	33283669	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	131646	33283669	137831398	780	15163											
C6orf125	84300	genome.wustl.edu	37	chr6	33668253	33668253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagcttgtactcttccaacGacaggccactgaagctggtg	9	10	10	12	1	2	1	1	1	1	0	3	2	3	1	2	2	4	3	2	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:33668253G>A	ENST00000607484.1	-	3	291	c.251C>T	c.(250-252)tCg>tTg	p.S84L	UQCC2_ENST00000374214.3_Missense_Mutation_p.S59L|MIR3934_ENST00000579806.1_RNA	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	84					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CTCTTCCAACGACAGGCCACT	0.537											OREG0017352	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													202	199	200					6																	33668253		2203	4300	6503	SO:0001583	missense	0				CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"Mitochondrial respiratory chain complex assembly factors"	21237	protein-coding gene	gene with protein product	"cytochrome B protein synthesis 6 homolog (S. cerevisiae)"	614461	"chromosome 6 open reading frame 125", "mitochondrial nucleoid factor 1"	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.251C>T	6.37:g.33668253G>A	ENSP00000476140:p.Ser84Leu	841	B2R4I0	Missense_Mutation	SNP	NULL	p.S84L	ENST00000607484.1	37	c.251	CCDS4784.1	6	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358437	0.61403	.	.	ENSG00000137288	ENST00000374231;ENST00000374214	.	.	.	6.02	6.02	0.97574	.	0.056534	0.64402	D	0.000003	T	0.46521	0.1397	L	0.45137	1.4	0.39982	D	0.974932	B	0.22909	0.077	B	0.13407	0.009	T	0.46190	-0.9209	9	0.72032	D	0.01	.	18.7276	0.91720	0.0:0.0:1.0:0.0	.	84	Q9BRT2	CF125_HUMAN	L	84;59	.	ENSP00000363331:S59L	S	-	2	0	C6orf125	33776231	1.000000	0.71417	0.882000	0.34594	0.705000	0.40729	6.360000	0.73064	2.850000	0.98022	0.650000	0.86243	TCG	UQCC2	-	NULL	ENSG00000137288		0.537	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC2	HGNC	protein_coding	OTTHUMT00000040207.2	-	0	90	0	G	NM_032340		33668253	-1	tier1	-	no_errors	ENST00000607484	ensembl	human	known	74_37	missense	38.78	59	38	SNP	0.990	A	A	33668253	G	A	33668253	3	1	58	1	0	0	0	0	1	0	0	0	2332	1059	37	1	137	1	C6orf125	6	33668253	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	384584	33668253	137446814	781	15164											
GRM4	2914	genome.wustl.edu	37	chr6	34003759	34003759	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacagatgcccagcagctGcagcgagatgaggctgaagg	12	4	14	11	1	0	4	0	2	0	2	0	5	0	4	1	2	5	4	1	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:34003759G>A	ENST00000538487.2	-	9	2571	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Nonsense_Mutation_p.Q594*|GRM4_ENST00000544773.2_Nonsense_Mutation_p.Q541*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.Q577*|GRM4_ENST00000609222.1_Nonsense_Mutation_p.Q577*|GRM4_ENST00000455714.2_Nonsense_Mutation_p.Q570*|GRM4_ENST00000374181.4_Nonsense_Mutation_p.Q710*	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	710					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCCAGCAGCTGCAGCGAGATG	0.642																																																	0													94	102	99					6																	34003759		2203	4300	6503	SO:0001587	stop_gained	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2128C>T	6.37:g.34003759G>A	ENSP00000440556:p.Gln710*		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.Q710*	ENST00000538487.2	37	c.2128	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.559416	0.97663	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3481	0.87315	0.0:0.0:1.0:0.0	.	.	.	.	X	710;594;402;577;541;710;570	.	ENSP00000363292:Q594X	Q	-	1	0	GRM4	34111737	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.565000	0.98154	2.307000	0.77673	0.462000	0.41574	CAG	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000124493		0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0	35	0	G			34003759	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	nonsense	43.75	27	21	SNP	1.000	A	A	34003759	G	A	34003759	4	1	58	1	0	0	0	0	0	1	0	0	6826	1328	46	3	622	3	GRM4	6	34003759	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	335506	34003759	137111308	782	15165											
HMGA1	3159	genome.wustl.edu	37	chr6	34211248	34211250	+	In_Frame_Del	DEL	ACC	ACC	-																															tttctctaaccctctagaaaAccaccacaactccaggaagg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:34211248_34211250delACC	ENST00000447654.1	+	4	712_714	c.223_225delACC	c.(223-225)accdel	p.T78del	HMGA1_ENST00000401473.3_In_Frame_Del_p.T67del|HMGA1_ENST00000347617.6_In_Frame_Del_p.T67del|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000374116.3_In_Frame_Del_p.T67del|HMGA1_ENST00000311487.5_In_Frame_Del_p.T78del|HMGA1_ENST00000395004.3_Intron	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	78					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						CCTCTAGAAAACCACCACAACTC	0.507			T	?	"microfollicular thyroid adenoma,  various benign mesenchymal tumors,"																																			Dom	yes		6	6p21	3159	high mobility group AT-hook 1		"E, M"	0																																										SO:0001651	inframe_deletion	0			AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"High-mobility group / Canonical"	5010	protein-coding gene	gene with protein product		600701	"high-mobility group (nonhistone chromosomal) protein isoforms I and Y"	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.223_225delACC	6.37:g.34211251_34211253delACC	ENSP00000399888:p.Thr78del		P10910|Q5T6U9|Q9UKB0	In_Frame_Del	DEL	smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY,prints_AT_hook-like	p.T78in_frame_del	ENST00000447654.1	37	c.223_225	CCDS4789.1	6																																																																																			HMGA1	-	prints_HMGI/HMGY	ENSG00000137309		0.507	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGA1	HGNC	protein_coding	OTTHUMT00000040214.2		0	65	0	ACC	NM_145899		34211250	1	tier1		no_errors	ENST00000311487	ensembl	human	known	74_37	in_frame_del	42.11	44	32	DEL	1.000:1.000:1.000	-	-	34211250	ACC	-	34211248	7	5	58	1	0	1	0	1	0	0	0	0	7250	43	2	0	233	0	HMGA1	6	34211248	In_Frame_Del	DEL	ACC	TCGA-L5-A4OI-01A-11D-A27G-09	207489	34211248	136903819	783	15166											
ANKS1A	23294	genome.wustl.edu	37	chr6	35051266	35051266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaaggtgtcaagttcatcGatgcctccaacaaggtgtgc	12	9	10	10	1	2	0	2	0	0	0	4	1	3	0	2	2	3	1	2	2	4	1	rs201592159		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:35051266G>A	ENST00000360359.3	+	20	3118	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	994	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAAGTTCATCGATGCCTCCAA	0.557																																																	0								G	ASN/ASP	0,4406		0,0,2203	206	159	175		2980	4.9	1	6		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANKS1A	NM_015245.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	994/1135	35051266	1,13005	2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2980G>A	6.37:g.35051266G>A	ENSP00000353518:p.Asp994Asn		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D994N	ENST00000360359.3	37	c.2980	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934171	0.92458	0.0	1.16E-4	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.15603	2.41	4.86	4.86	0.63082	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.47852	D	0.000210	T	0.28499	0.0705	L	0.52905	1.665	0.80722	D	1	D;P;D	0.89917	0.97;0.932;1.0	P;P;D	0.91635	0.663;0.545;0.999	T	0.01397	-1.1365	10	0.35671	T	0.21	-13.7028	18.0077	0.89214	0.0:0.0:1.0:0.0	.	320;320;994	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	N	994;320	ENSP00000353518:D994N	ENSP00000353518:D994N	D	+	1	0	ANKS1A	35159244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.842000	0.99487	2.252000	0.74401	0.655000	0.94253	GAT	ANKS1A	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000064999		0.557	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	-	0	40	0	G	XM_166478		35051266	1	tier1	rs201592159	no_errors	ENST00000360359	ensembl	human	known	74_37	missense	51.85	13	14	SNP	1.000	A	A	35051266	G	A	35051266	3	1	58	1	0	0	0	0	1	0	0	0	688	1058	37	1	3058	1	ANKS1A	6	35051266	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	840018	35051266	136063801	784	15167											
RPL10A	4736	genome.wustl.edu	37	chr6	35438036	35438036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggcccaggtttaaataagGcaggaaagttcccttccctg	10	10	10	11	1	0	0	0	0	0	0	3	1	2	1	3	4	0	3	3	4	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:35438036G>A	ENST00000322203.6	+	5	418	c.391G>A	c.(391-393)Gca>Aca	p.A131T	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	131					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						TTTAAATAAGGCAGGAAAGTT	0.478																																																	0													58	53	54					6																	35438036		2203	4300	6503	SO:0001583	missense	0			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"L ribosomal proteins"	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.391G>A	6.37:g.35438036G>A	ENSP00000363018:p.Ala131Thr		B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1	p.A131T	ENST00000322203.6	37	c.391	CCDS4806.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.489709	0.96323	.	.	ENSG00000198755	ENST00000322203	T	0.43688	0.94	4.73	4.73	0.59995	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, conserved site (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	H	0.94222	3.51	0.80722	D	1	B	0.34015	0.435	P	0.58130	0.833	T	0.75334	-0.3354	10	0.72032	D	0.01	.	16.3854	0.83503	0.0:0.0:1.0:0.0	.	131	P62906	RL10A_HUMAN	T	131	ENSP00000363018:A131T	ENSP00000363018:A131T	A	+	1	0	RPL10A	35546014	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.595000	0.98260	2.194000	0.70268	0.556000	0.70494	GCA	RPL10A	-	pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1	ENSG00000198755		0.478	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10A	HGNC	protein_coding	OTTHUMT00000040283.1	-	0	70	0	G	NM_007104		35438036	1	tier1	-	no_errors	ENST00000322203	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	A	A	35438036	G	A	35438036	3	1	58	1	0	0	0	0	1	0	0	0	13600	1203	42	3	409	3	RPL10A	6	35438036	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	386770	35438036	135677031	785	15168											
KIF6	221458	genome.wustl.edu	37	chr6	39513391	39513391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacagtgatgaactttacGcatatccgcgccaacctcta	14	9	6	12	3	1	2	0	2	1	0	2	2	2	2	3	0	4	1	3	0	7	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:39513391G>A	ENST00000287152.7	-	11	1349	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	KIF6_ENST00000373216.3_Missense_Mutation_p.R419C|KIF6_ENST00000373213.4_Missense_Mutation_p.R258C|KIF6_ENST00000373215.3_Missense_Mutation_p.R419C|KIF6_ENST00000538893.1_Missense_Mutation_p.R419C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGAACTTTACGCATATCCGCG	0.353																																																	0													113	109	110					6																	39513391		2203	4300	6503	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1255C>T	6.37:g.39513391G>A	ENSP00000287152:p.Arg419Cys		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R419C	ENST00000287152.7	37	c.1255	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416198	0.62511	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893	T;T;T;T;T	0.73363	-0.72;-0.71;-0.56;-0.72;-0.74	5.56	5.56	0.83823	.	.	.	.	.	D	0.82504	0.5051	M	0.73217	2.22	0.80722	D	1	D;P;P;D	0.89917	1.0;0.892;0.952;1.0	D;B;P;D	0.97110	1.0;0.347;0.55;0.999	D	0.83820	0.0246	9	0.62326	D	0.03	.	15.0307	0.71705	0.0:0.0:1.0:0.0	.	419;419;419;419	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	C	419;419;258;419;419	ENSP00000287152:R419C;ENSP00000362312:R419C;ENSP00000362309:R258C;ENSP00000362311:R419C;ENSP00000441435:R419C	ENSP00000287152:R419C	R	-	1	0	KIF6	39621369	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.193000	0.65120	2.609000	0.88269	0.561000	0.74099	CGT	KIF6	-	NULL	ENSG00000164627		0.353	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0	54	0	G	NM_145027		39513391	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	42.86	28	21	SNP	1.000	A	A	39513391	G	A	39513391	3	1	58	1	0	0	0	0	1	0	0	0	8335	1087	38	1	1241	1	KIF6	6	39513391	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4075355	39513391	131601676	786	15169											
KIF6	221458	genome.wustl.edu	37	chr6	39580993	39580993	+	Frame_Shift_Del	DEL	A	A	-																															tcattcggttggtgtctcctAaaaaaagcaaattcagagct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:39580993delA	ENST00000287152.7	-	6	705	c.611delT	c.(610-612)ttafs	p.L204fs	KIF6_ENST00000373216.3_Frame_Shift_Del_p.L204fs|KIF6_ENST00000373213.4_Frame_Shift_Del_p.L43fs|KIF6_ENST00000373215.3_Frame_Shift_Del_p.L204fs|KIF6_ENST00000538893.1_Frame_Shift_Del_p.L204fs	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGTGTCTCCTAAAAAAAGCAA	0.398																																																	0													114	106	109					6																	39580993		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.611delT	6.37:g.39580993delA	ENSP00000287152:p.Leu204fs		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L204fs	ENST00000287152.7	37	c.611	CCDS4844.1	6																																																																																			KIF6	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000164627		0.398	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2		0	39	0	A	NM_145027		39580993	-1	tier1		no_errors	ENST00000287152	ensembl	human	known	74_37	frame_shift_del	33.96	35	18	DEL	1.000	-	-	39580993	A	-	39580993	7	5	58	1	0	1	0	1	0	0	0	0	8335	372	13	0	1905	0	KIF6	6	39580993	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	67602	39580993	131534074	787	15170											
DAAM2	23500	genome.wustl.edu	37	chr6	39869234	39869234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggagcggcgggcgCgcatggaagccatggtgagg	9	3	22	7	4	0	1	0	1	0	0	0	5	0	5	1	8	2	1	1	8	1	0	rs368619961	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:39869234C>T	ENST00000398904.2	+	24	3150	c.2968C>T	c.(2968-2970)Cgc>Tgc	p.R990C	DAAM2_ENST00000274867.4_Missense_Mutation_p.R990C|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R989C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	990	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R989C(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCGGCGGGCGCGCATGGAAGC	0.622													C|||	3	0.000599042	0.0015	0	5008	,	,		14261	0		0.001	False		,,,				2504	0																3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)						C	CYS/ARG,CYS/ARG	0,4074		0,0,2037	28	31	30		2968,2965	5.2	1	6		30	1,8341		0,1,4170	no	missense,missense	DAAM2	NM_001201427.1,NM_015345.3	180,180	0,1,6207	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging	990/1069,989/1068	39869234	1,12415	2037	4171	6208	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2968C>T	6.37:g.39869234C>T	ENSP00000381876:p.Arg990Cys		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.R990C	ENST00000398904.2	37	c.2968	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940565	0.73557	0.0	1.2E-4	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.81739	-1.52;-1.52;-1.53	5.17	5.17	0.71159	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.208599	0.42053	D	0.000768	T	0.79862	0.4519	M	0.83118	2.625	0.80722	D	1	P;P	0.47545	0.897;0.688	B;B	0.41440	0.357;0.09	D	0.84864	0.0821	10	0.72032	D	0.01	.	18.6645	0.91485	0.0:1.0:0.0:0.0	.	989;990	G5EA45;Q86T65	.;DAAM2_HUMAN	C	990;990;989	ENSP00000274867:R990C;ENSP00000381876:R990C;ENSP00000437808:R989C	ENSP00000274867:R990C	R	+	1	0	DAAM2	39977212	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.711000	0.61881	2.578000	0.87016	0.655000	0.94253	CGC	DAAM2	-	smart_FH2_Formin	ENSG00000146122		0.622	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0	13	0	C			39869234	1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	T	T	39869234	C	T	39869234	3	4	58	1	0	0	0	0	1	0	0	0	4225	768	27	1	3055	1	DAAM2	6	39869234	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	288241	39869234	131245833	788	15171											
FOXP4	116113	genome.wustl.edu	37	chr6	41554855	41554855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggggctggtcagcctgcagCccaaccaagcctcggggccc	7	4	14	16	1	1	0	1	0	0	0	2	0	1	0	5	5	5	2	5	5	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:41554855C>T	ENST00000307972.4	+	5	631	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	FOXP4_ENST00000373063.3_Missense_Mutation_p.P207S|FOXP4_ENST00000373057.3_Missense_Mutation_p.P205S|FOXP4_ENST00000373060.1_Missense_Mutation_p.P207S|FOXP4_ENST00000409208.1_Missense_Mutation_p.P207S			Q8IVH2	FOXP4_HUMAN	forkhead box P4	207	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCTGCAGCCCAACCAAGC	0.652											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													20	25	23					6																	41554855		2199	4291	6490	SO:0001583	missense	0			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.619C>T	6.37:g.41554855C>T	ENSP00000309823:p.Pro207Ser	902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P207S	ENST00000307972.4	37	c.619	CCDS34447.1	6	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044881	0.36085	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	4.32	3.42	0.39159	.	0.067779	0.64402	D	0.000012	T	0.32436	0.0829	L	0.45228	1.405	0.44862	D	0.997878	B;B;P	0.39748	0.004;0.004;0.686	B;B;B	0.40228	0.003;0.003;0.323	T	0.17440	-1.0369	10	0.51188	T	0.08	.	7.4699	0.27342	0.0:0.7382:0.17:0.0917	.	207;205;207	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	S	207;207;207;205;207	ENSP00000362151:P207S;ENSP00000362154:P207S;ENSP00000386958:P207S;ENSP00000362148:P205S;ENSP00000309823:P207S	ENSP00000309823:P207S	P	+	1	0	FOXP4	41662833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.832000	0.55783	0.751000	0.32900	0.462000	0.41574	CCC	FOXP4	-	NULL	ENSG00000137166		0.652	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	HGNC	protein_coding	OTTHUMT00000106767.1		0	9	0	C	NM_138457		41554855	1			no_errors	ENST00000307972	ensembl	human	known	74_37	missense	62.50	3	5	SNP	1.000	T	T	41554855	C	T	41554855	3	4	58	1	0	0	0	0	1	0	0	0	6053	739	26	3	637	3	FOXP4	6	41554855	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1685621	41554855	129560212	789	15172											
TOMM6	100188893	genome.wustl.edu	37	chr6	41755470	41755470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcccggtgagcgctgctgGctcggctaatgaaactcccg	6	9	13	13	4	0	2	0	2	0	0	3	2	2	2	2	3	3	4	2	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:41755470G>T	ENST00000398884.3	+	1	71	c.35G>T	c.(34-36)gGc>gTc	p.G12V	TOMM6_ENST00000398881.3_Missense_Mutation_p.G12V	NM_001134493.1	NP_001127965.1	Q96B49	TOM6_HUMAN	translocase of outer mitochondrial membrane 6 homolog (yeast)	12					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)											AGCGCTGCTGGCTCGGCTAAT	0.592											OREG0004074|OREG0017435	type=REGULATORY REGION|Gene=C6orf49|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													46	44	45					6																	41755470		692	1591	2283	SO:0001583	missense	0			AF216754	CCDS47424.1	6p21.1	2010-08-05			ENSG00000214736	ENSG00000214736			34528	protein-coding gene	gene with protein product	"over-expressed breast tumor protein"					18331822	Standard	NM_001134493		Approved	OBTP	uc011dug.1	Q96B49	OTTHUMG00000137505	ENST00000398884.3:c.35G>T	6.37:g.41755470G>T	ENSP00000381859:p.Gly12Val	903	B2DG15|Q9UH52	Missense_Mutation	SNP	NULL	p.G12V	ENST00000398884.3	37	c.35	CCDS47424.1	6	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451626	0.63290	.	.	ENSG00000214736	ENST00000398884;ENST00000398881	.	.	.	5.25	4.37	0.52481	.	0.000000	0.45361	U	0.000379	T	0.20414	0.0491	.	.	.	0.22034	N	0.999409	B	0.14438	0.01	B	0.15484	0.013	T	0.17776	-1.0358	8	0.72032	D	0.01	-9.124	10.465	0.44602	0.0:0.1449:0.705:0.1501	.	12	Q96B49	TOM6_HUMAN	V	12	.	ENSP00000381856:G12V	G	+	2	0	TOMM6	41863448	0.295000	0.24389	0.026000	0.17262	0.041000	0.13682	1.471000	0.35365	1.566000	0.49654	0.655000	0.94253	GGC	TOMM6	-	NULL	ENSG00000214736		0.592	TOMM6-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TOMM6	HGNC	protein_coding	OTTHUMT00000268822.1	-	0	59	0	G			41755470	1	tier1	-	no_errors	ENST00000398881	ensembl	human	novel	74_37	missense	6.15	61	4	SNP	0.017	T	T	41755470	G	T	41755470	3	4	58	1	0	0	0	0	1	0	0	0	16408	1203	42	3	37	3	TOMM6	6	41755470	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	200615	41755470	129359597	790	15173											
TRERF1	55809	genome.wustl.edu	37	chr6	42237239	42237239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatagttgtggttcagcccGctgtggacgccaagtggtgg	6	10	15	10	2	1	0	1	0	0	0	1	1	1	1	3	4	1	3	3	4	2	3	rs149014572		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:42237239G>A	ENST00000372922.4	-	5	652	c.90C>T	c.(88-90)agC>agT	p.S30S	TRERF1_ENST00000354325.2_Silent_p.S30S|TRERF1_ENST00000372917.4_Silent_p.S30S|TRERF1_ENST00000340840.2_Silent_p.S30S|TRERF1_ENST00000541110.1_Silent_p.S30S	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	30					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTTCAGCCCGCTGTGGACGC	0.567																																																	0								G		0,4406		0,0,2203	78	81	80		90	-8.9	0	6	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRERF1	NM_033502.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		30/1201	42237239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.90C>T	6.37:g.42237239G>A			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S30	ENST00000372922.4	37	c.90	CCDS4867.1	6																																																																																			TRERF1	-	NULL	ENSG00000124496		0.567	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0	107	0	G	NM_033502		42237239	-1	tier1	rs149014572	no_errors	ENST00000541110	ensembl	human	known	74_37	silent	33.33	48	24	SNP	0.000	A	A	42237239	G	A	42237239	2	1	58	1	0	0	0	0	0	0	0	1	16523	1078	38	1		1	TRERF1	6	42237239	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	481769	42237239	128877828	791	15174											
CNPY3	10695	genome.wustl.edu	37	chr6	42905914	42905914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgactgaattcctctgCgccaaccacgtgctgaaggg	9	8	11	13	2	1	3	0	3	1	0	2	4	2	3	4	1	3	1	4	1	3	1	rs367667963		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:42905914C>T	ENST00000372836.4	+	5	953	c.582C>T	c.(580-582)tgC>tgT	p.C194C	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	194	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AATTCCTCTGCGCCAACCACG	0.527																																																	0								C		0,4406		0,0,2203	164	148	153		582	-1.1	1	6		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNPY3	NM_006586.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		194/279	42905914	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"Trinucleotide (CAG) repeat containing"	11968	protein-coding gene	gene with protein product		610774	"trinucleotide repeat containing 5", "canopy 3 homolog (zebrafish)"	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.582C>T	6.37:g.42905914C>T			O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Silent	SNP	pfam_DUF3456	p.C194	ENST00000372836.4	37	c.582	CCDS4875.1	6																																																																																			CNPY3	-	pfam_DUF3456	ENSG00000137161		0.527	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	-	0	73	0	C	NM_006586		42905914	1	tier1	-	no_errors	ENST00000372836	ensembl	human	known	74_37	silent	6.17	76	5	SNP	1.000	T	T	42905914	C	T	42905914	2	4	58	1	0	0	0	0	0	0	0	1	3636	776	27	1		1	CNPY3	6	42905914	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	668675	42905914	128209153	792	15175											
PTK7	5754	genome.wustl.edu	37	chr6	43098360	43098360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacccccgagcctgcagtGgctctttgaggatgagactc	7	8	12	14	1	1	2	0	2	1	1	2	5	1	3	4	2	2	2	4	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43098360G>T	ENST00000230419.4	+	5	994	c.773G>T	c.(772-774)tGg>tTg	p.W258L	PTK7_ENST00000349241.2_Missense_Mutation_p.W258L|PTK7_ENST00000352931.2_Missense_Mutation_p.W258L|PTK7_ENST00000345201.2_Missense_Mutation_p.W258L|PTK7_ENST00000471863.1_Missense_Mutation_p.W258L|PTK7_ENST00000481273.1_Missense_Mutation_p.W266L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	258	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCTGCAGTGGCTCTTTGAG	0.577																																																	0													92	78	83					6																	43098360		2203	4300	6503	SO:0001583	missense	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.773G>T	6.37:g.43098360G>T	ENSP00000230419:p.Trp258Leu		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W258L	ENST00000230419.4	37	c.773	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.141971	0.94560	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972;ENST00000481946	T;T;T;D;D;T;T	0.96265	0.56;0.56;0.56;-3.96;-3.96;0.56;0.56	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99229	1.0881	10	0.87932	D	0	.	19.798	0.96494	0.0:0.0:1.0:0.0	.	266;258;258;258;258;258	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	L	258;258;258;258;258;266;266;11	ENSP00000230419:W258L;ENSP00000419037:W258L;ENSP00000325462:W258L;ENSP00000326029:W258L;ENSP00000325992:W258L;ENSP00000418754:W266L;ENSP00000420165:W11L	ENSP00000230418:W258L	W	+	2	0	PTK7	43206338	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.106000	0.89555	2.677000	0.91161	0.563000	0.77884	TGG	PTK7	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112655		0.577	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	-	0	46	0	G			43098360	1	tier1	-	no_errors	ENST00000230419	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	43098360	G	T	43098360	3	4	58	1	0	0	0	0	1	0	0	0	12808	1357	47	3	791	3	PTK7	6	43098360	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	192446	43098360	128016707	793	15176											
TTBK1	84630	genome.wustl.edu	37	chr6	43227441	43227441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtggagctacctgagaGgaggtgggtctggggccagg	7	6	21	7	1	1	1	0	1	1	1	1	5	1	3	2	7	2	1	2	7	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43227441G>T	ENST00000259750.4	+	12	1504	c.1421G>T	c.(1420-1422)aGg>aTg	p.R474M	TTBK1_ENST00000304139.5_Missense_Mutation_p.R423M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	474					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTACCTGAGAGGAGGTGGGTC	0.652																																																	0													17	16	16					6																	43227441		2194	4294	6488	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1421G>T	6.37:g.43227441G>T	ENSP00000259750:p.Arg474Met		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R474M	ENST00000259750.4	37	c.1421	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142999	0.57044	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.53206	0.63	5.22	4.34	0.51931	.	0.063219	0.64402	D	0.000004	T	0.40743	0.1129	L	0.36672	1.1	0.36882	D	0.889428	D	0.67145	0.996	P	0.56700	0.804	T	0.45205	-0.9277	10	0.87932	D	0	.	11.3529	0.49598	0.0876:0.0:0.9124:0.0	.	474	Q5TCY1	TTBK1_HUMAN	M	423;474;423	ENSP00000259750:R474M	ENSP00000259750:R474M	R	+	2	0	TTBK1	43335419	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	3.936000	0.56568	2.442000	0.82660	0.555000	0.69702	AGG	TTBK1	-	NULL	ENSG00000146216		0.652	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0	81	0	G			43227441	1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	43227441	G	T	43227441	3	4	58	1	0	0	0	0	1	0	0	0	16725	1000	35	3	1463	3	TTBK1	6	43227441	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	129081	43227441	127887626	794	15177											
POLR1C	9533	genome.wustl.edu	37	chr6	43488038	43488038	+	Frame_Shift_Del	DEL	C	C	-																															accaggcatatgacatggatCcccctggggaaccaggctga																								rs367732777		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43488038delC	ENST00000372389.3	+	6	616	c.528delC	c.(526-528)atcfs	p.I176fs	POLR1C_ENST00000304004.3_Frame_Shift_Del_p.I176fs|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Frame_Shift_Del_p.I176fs	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	176					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACATGGATCCCCCTGGGGA	0.532																																																	0													149	151	151					6																	43488038		2203	4300	6503	SO:0001589	frameshift_variant	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.528delC	6.37:g.43488038delC	ENSP00000361465:p.Ile176fs		O75395|Q5JTE3	Frame_Shift_Del	DEL	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.L178fs	ENST00000372389.3	37	c.528	CCDS4901.1	6																																																																																			POLR1C	-	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.532	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3		0	75	0	C	NM_004875		43488038	1	tier1		no_errors	ENST00000372389	ensembl	human	known	74_37	frame_shift_del	27.08	35	13	DEL	0.327	-	-	43488038	C	-	43488038	7	5	58	1	0	1	0	1	0	0	0	0	12250	845	30	0	550	0	POLR1C	6	43488038	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	260597	43488038	127627029	795	15178											
POLR1C	9533	genome.wustl.edu	37	chr6	43488730	43488730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcagagaaatcttccGgaatgagaagctaaagaagg	16	7	11	7	1	2	3	1	1	1	3	3	6	3	4	1	2	2	2	1	2	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43488730G>T	ENST00000372389.3	+	8	954	c.866G>T	c.(865-867)cGg>cTg	p.R289L	POLR1C_ENST00000304004.3_Missense_Mutation_p.R289L|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Missense_Mutation_p.R239L	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	289					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GAAATCTTCCGGAATGAGAAG	0.453																																																	0													108	114	112					6																	43488730		2203	4300	6503	SO:0001583	missense	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.866G>T	6.37:g.43488730G>T	ENSP00000361465:p.Arg289Leu		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.R289L	ENST00000372389.3	37	c.866	CCDS4901.1	6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359130	0.82353	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004	D;D;D	0.83419	-1.72;-1.72;-1.72	4.89	4.89	0.63831	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.994;0.997	D	0.93347	0.6715	10	0.87932	D	0	-15.4139	18.109	0.89529	0.0:0.0:1.0:0.0	.	289;289	O15160-2;O15160	.;RPAC1_HUMAN	L	289;153;239;289	ENSP00000361465:R289L;ENSP00000361419:R239L;ENSP00000307212:R289L	ENSP00000307212:R289L	R	+	2	0	POLR1C	43596708	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.928000	0.87587	2.262000	0.75019	0.454000	0.30748	CGG	POLR1C	-	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.453	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	-	0	63	0	G	NM_004875		43488730	1	tier1	-	no_errors	ENST00000372389	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	43488730	G	T	43488730	3	4	58	1	0	0	0	0	1	0	0	0	12250	1116	39	2	896	2	POLR1C	6	43488730	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	692	43488730	127626337	796	15179											
CAPN11	11131	genome.wustl.edu	37	chr6	44145101	44145101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaatgcagaagaactggCggcatgcacggcagcaggga	12	4	14	11	2	0	2	0	0	0	2	0	3	0	3	1	4	4	5	1	4	3	1	rs201179894		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:44145101C>T	ENST00000398776.1	+	12	1398	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	CAPN11_ENST00000542245.1_Missense_Mutation_p.R454W	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	454	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGAACTGGCGGCATGCACG	0.612																																																	0								C	TRP/ARG	0,4202		0,0,2101	45	50	49		1360	-7.1	0.2	6		49	1,8493		0,1,4246	yes	missense	CAPN11	NM_007058.3	101	0,1,6347	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	454/740	44145101	1,12695	2101	4247	6348	SO:0001583	missense	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1360C>T	6.37:g.44145101C>T	ENSP00000381758:p.Arg454Trp		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R454W	ENST00000398776.1	37	c.1360	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856331	0.91355	0.0	1.18E-4	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.90844	-2.74;-2.74	4.79	-7.13	0.01532	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.155924	0.29692	N	0.011451	D	0.94102	0.8109	H	0.95260	3.645	0.37986	D	0.933745	D;P	0.89917	1.0;0.654	D;B	0.87578	0.998;0.062	D	0.93393	0.6753	10	0.87932	D	0	.	10.7693	0.46312	0.6391:0.2396:0.0:0.1213	.	108;454	B4DT90;Q9UMQ6	.;CAN11_HUMAN	W	454	ENSP00000381758:R454W;ENSP00000441078:R454W	ENSP00000381758:R454W	R	+	1	2	CAPN11	44253079	0.991000	0.36638	0.204000	0.23530	0.872000	0.50106	0.930000	0.28858	-0.883000	0.03982	-0.215000	0.12644	CGG	CAPN11	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000137225		0.612	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	-	0	32	0	C			44145101	1	tier1	rs201179894	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	50.00	21	21	SNP	0.635	T	T	44145101	C	T	44145101	3	4	58	1	0	0	0	0	1	0	0	0	2631	759	27	1	1406	1	CAPN11	6	44145101	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	656371	44145101	126969966	797	15180											
SLC29A1	2030	genome.wustl.edu	37	chr6	44195073	44195073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaccagtcaccagcctcAggacaggtaaggggtaaggg	13	4	14	10	0	2	0	2	0	0	0	2	2	2	1	3	5	2	2	3	5	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:44195073A>G	ENST00000393841.1	+	3	514	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	SLC29A1_ENST00000371731.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000313248.7_Missense_Mutation_p.Q87R|SLC29A1_ENST00000427851.2_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371755.3_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371708.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371713.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371724.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000393844.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371740.5_Missense_Mutation_p.Q8R	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	8					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CACCAGCCTCAGGACAGGTAA	0.602																																																	0													111	94	100					6																	44195073		2203	4300	6503	SO:0001583	missense	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.23A>G	6.37:g.44195073A>G	ENSP00000377424:p.Gln8Arg		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.Q87R	ENST00000393841.1	37	c.260	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675765	0.29783	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	4.68	4.68	0.58851	.	0.514651	0.14796	U	0.297936	T	0.26376	0.0644	N	0.16790	0.44	0.38933	D	0.95799	B;B;B	0.19445	0.003;0.036;0.003	B;B;B	0.17098	0.009;0.017;0.006	T	0.09058	-1.0692	10	0.18710	T	0.47	-9.1698	10.7102	0.45980	1.0:0.0:0.0:0.0	.	8;87;8	B7Z1J8;B3KQV7;Q99808	.;.;S29A1_HUMAN	R	8;87;8;8;8;8;8;8;8;8	ENSP00000377427:Q8R;ENSP00000319152:Q87R;ENSP00000392668:Q8R;ENSP00000360820:Q8R;ENSP00000360805:Q8R;ENSP00000360796:Q8R;ENSP00000377424:Q8R;ENSP00000360789:Q8R;ENSP00000360778:Q8R;ENSP00000360773:Q8R	ENSP00000319152:Q87R	Q	+	2	0	SLC29A1	44303051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.282000	0.51693	2.088000	0.63022	0.528000	0.53228	CAG	SLC29A1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000112759		0.602	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	-	0	86	0	A			44195073	1	tier1	-	no_errors	ENST00000313248	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	G	G	44195073	A	G	44195073	3	3	58	1	0	0	0	0	1	0	0	0	14579	188	7	4	25	4	SLC29A1	6	44195073	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	49972	44195073	126919994	798	15181											
GPR116	221395	genome.wustl.edu	37	chr6	46851912	46851912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggaggaagacgtcaCgctcttgacaaatgagattg	11	8	13	9	2	2	3	1	2	1	2	2	6	2	5	1	2	0	1	1	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:46851912C>T	ENST00000283296.7	-	5	713	c.425G>A	c.(424-426)cGt>cAt	p.R142H	GPR116_ENST00000265417.7_Missense_Mutation_p.R142H|GPR116_ENST00000362015.4_Missense_Mutation_p.R142H|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.R142H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	142					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GAAGACGTCACGCTCTTGACA	0.493																																					NSCLC(59;410 1274 8751 36715 50546)												0													153	131	138					6																	46851912		2203	4300	6503	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.425G>A	6.37:g.46851912C>T	ENSP00000283296:p.Arg142His		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.R142H	ENST00000283296.7	37	c.425	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.023165	0.00414	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.25085	1.82;2.2;1.83;1.82	5.17	-0.506	0.11989	.	1.011940	0.07918	N	0.975448	T	0.00967	0.0032	N	0.00162	-1.95	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39603	-0.9606	10	0.10902	T	0.67	-0.0167	1.1564	0.01797	0.1478:0.1707:0.1533:0.5282	.	142;142;142	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	H	142	ENSP00000283296:R142H;ENSP00000354563:R142H;ENSP00000412866:R142H;ENSP00000265417:R142H	ENSP00000265417:R142H	R	-	2	0	GPR116	46959871	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.357000	0.07651	-0.237000	0.09739	-0.294000	0.09567	CGT	GPR116	-	prints_GPCR_2_Ig-hepta_rcpt	ENSG00000069122		0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	-	0	45	0	C	NM_015234		46851912	-1	tier1	-	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.000	T	T	46851912	C	T	46851912	3	4	58	1	0	0	0	0	1	0	0	0	6659	536	19	1	3683	1	GPR116	6	46851912	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2656839	46851912	124263155	799	15182											
GPR115	221393	genome.wustl.edu	37	chr6	47678531	47678531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagccctgtgctaaggactTtcatggagaaataggattta	12	11	10	8	0	1	1	1	0	0	1	1	4	1	3	2	3	2	1	2	3	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:47678531T>C	ENST00000283303.2	+	4	467	c.209T>C	c.(208-210)tTt>tCt	p.F70S	GPR115_ENST00000371220.1_Missense_Mutation_p.F127S|GPR115_ENST00000327753.3_Missense_Mutation_p.F70S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	70					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCTAAGGACTTTCATGGAGAA	0.393																																					GBM(22;431 510 9010 26644 32828)												0													93	99	97					6																	47678531		2203	4300	6503	SO:0001583	missense	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.209T>C	6.37:g.47678531T>C	ENSP00000283303:p.Phe70Ser		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.F127S	ENST00000283303.2	37	c.380	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	T	13.28	2.190586	0.38707	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35048	1.54;1.33;1.33	5.71	4.53	0.55603	.	0.000000	0.64402	D	0.000001	T	0.16128	0.0388	L	0.58669	1.825	0.24121	N	0.995808	P	0.41929	0.765	B	0.37198	0.243	T	0.04386	-1.0955	10	0.37606	T	0.19	-21.9663	10.1783	0.42952	0.1485:0.0:0.0:0.8515	.	70	Q8IZF3	GP115_HUMAN	S	127;70;70	ENSP00000360264:F127S;ENSP00000328319:F70S;ENSP00000283303:F70S	ENSP00000283303:F70S	F	+	2	0	GPR115	47786490	0.977000	0.34250	0.057000	0.19452	0.329000	0.28539	2.778000	0.47726	1.064000	0.40671	0.533000	0.62120	TTT	GPR115	-	prints_GPCR_2_Ig-hepta_rcpt	ENSG00000153294		0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	-	0	59	0	T	NM_153838		47678531	1	tier1	-	no_errors	ENST00000371220	ensembl	human	known	74_37	missense	31.94	48	23	SNP	0.471	C	C	47678531	T	C	47678531	3	2	58	1	0	0	0	0	1	0	0	0	6658	1841	64	4	219	4	GPR115	6	47678531	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	826619	47678531	123436536	800	15183											
GPR115	221393	genome.wustl.edu	37	chr6	47678561	47678561	+	Frame_Shift_Del	DEL	A	A	-																															aataggatttacatgtaatcAaaaaaagtggcaaaaatcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:47678561delA	ENST00000283303.2	+	4	497	c.239delA	c.(238-240)caafs	p.Q80fs	GPR115_ENST00000371220.1_Frame_Shift_Del_p.Q137fs|GPR115_ENST00000327753.3_Frame_Shift_Del_p.Q80fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	80					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACATGTAATCAAAAAAAGTGG	0.383																																					GBM(22;431 510 9010 26644 32828)												0													107	111	110					6																	47678561		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.239delA	6.37:g.47678561delA	ENSP00000283303:p.Gln80fs		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.K139fs	ENST00000283303.2	37	c.410	CCDS4922.2	6																																																																																			GPR115	-	prints_GPCR_2_Ig-hepta_rcpt	ENSG00000153294		0.383	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2		0	72	0	A	NM_153838		47678561	1	tier1		no_errors	ENST00000371220	ensembl	human	known	74_37	frame_shift_del	45.71	38	32	DEL	0.923	-	-	47678561	A	-	47678561	7	5	58	1	0	1	0	1	0	0	0	0	6658	130	5	0	249	0	GPR115	6	47678561	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	30	47678561	123436506	801	15184											
MUT	4594	genome.wustl.edu	37	chr6	49423796	49423796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttaatttactcaccttGgtgcaaattcatcaattgtc	11	16	6	8	0	3	0	3	0	0	0	4	0	3	0	1	2	2	2	1	2	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:49423796G>T	ENST00000274813.3	-	4	1035	c.908C>A	c.(907-909)cCa>cAa	p.P303Q		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	303					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTCACCTTGGTGCAAATTC	0.373																																																	0													66	62	64					6																	49423796		2203	4299	6502	SO:0001583	missense	0				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.908C>A	6.37:g.49423796G>T	ENSP00000274813:p.Pro303Gln		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.P303Q	ENST00000274813.3	37	c.908	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555432	0.86231	.	.	ENSG00000146085	ENST00000274813	D	0.98512	-4.97	5.57	5.57	0.84162	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.99793	1.1032	10	0.87932	D	0	.	18.5367	0.91013	0.0:0.0:1.0:0.0	.	303	P22033	MUTA_HUMAN	Q	303	ENSP00000274813:P303Q	ENSP00000274813:P303Q	P	-	2	0	MUT	49531755	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.476000	0.97823	2.609000	0.88269	0.591000	0.81541	CCA	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat	ENSG00000146085		0.373	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	-	0	51	0	G			49423796	-1	tier1	-	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	49423796	G	T	49423796	3	4	58	1	0	0	0	0	1	0	0	0	10029	1348	47	3	1384	3	MUT	6	49423796	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1745235	49423796	121691271	802	15185											
PGK2	5232	genome.wustl.edu	37	chr6	49754577	49754577	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaggagctgggttggcAcaggctttctccacttctgc	7	10	12	12	0	2	0	0	0	2	0	3	2	2	1	2	4	3	4	2	4	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:49754577A>G	ENST00000304801.3	-	1	476	c.324T>C	c.(322-324)tgT>tgC	p.C108C		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	108					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTGGGTTGGCACAGGCTTTCT	0.507																																																	0													113	109	110					6																	49754577		2203	4300	6503	SO:0001819	synonymous_variant	0			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.324T>C	6.37:g.49754577A>G			B2R6Y8|Q9H107	Silent	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.C108	ENST00000304801.3	37	c.324	CCDS4930.1	6																																																																																			PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase	ENSG00000170950		0.507	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	-	0	90	0	A			49754577	-1	tier1	-	no_errors	ENST00000304801	ensembl	human	known	74_37	silent	33.33	40	20	SNP	0.995	G	G	49754577	A	G	49754577	2	3	58	1	0	0	0	0	0	0	0	1	11830	157	6	4		4	PGK2	6	49754577	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	330781	49754577	121360490	803	15186											
TFAP2D	83741	genome.wustl.edu	37	chr6	50712911	50712911	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacatcttgccagacaacaTatggaacagaaagaacagac	19	5	8	9	0	1	4	0	0	1	4	1	6	1	5	1	1	5	0	1	1	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:50712911T>C	ENST00000008391.3	+	6	1203	c.975T>C	c.(973-975)caT>caC	p.H325H	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCAGACAACATATGGAACAGA	0.448																																																	0													128	121	123					6																	50712911		2203	4300	6503	SO:0001819	synonymous_variant	0			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.975T>C	6.37:g.50712911T>C				Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.H325	ENST00000008391.3	37	c.975	CCDS4933.1	6																																																																																			TFAP2D	-	pfam_TF_AP2_C	ENSG00000008197		0.448	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	-	0	41	0	T	NM_172238		50712911	1	tier1	-	no_errors	ENST00000008391	ensembl	human	known	74_37	silent	38.46	32	20	SNP	1.000	C	C	50712911	T	C	50712911	2	2	58	1	0	0	0	0	0	0	0	1	15837	1403	49	4		4	TFAP2D	6	50712911	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	958334	50712911	120402156	804	15187											
COL21A1	81578	genome.wustl.edu	37	chr6	56035809	56035809	+	Frame_Shift_Del	DEL	T	T	-																															ttacttcatatccttttatcTtttttggtgaaagctgtatt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:56035809delT	ENST00000244728.5	-	4	1155	c.758delA	c.(757-759)aagfs	p.K253fs	COL21A1_ENST00000370819.1_Frame_Shift_Del_p.K253fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.K253fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	253	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTTTTATCTTTTTTGGTGA	0.338																																																	0													156	138	144					6																	56035809		1820	4075	5895	SO:0001589	frameshift_variant	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.758delA	6.37:g.56035809delT	ENSP00000244728:p.Lys253fs		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.K253fs	ENST00000244728.5	37	c.758	CCDS55025.1	6																																																																																			COL21A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000124749		0.338	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2		0	97	0	T			56035809	-1	tier1		no_errors	ENST00000244728	ensembl	human	known	74_37	frame_shift_del	31.07	71	32	DEL	1.000	-	-	56035809	T	-	56035809	7	5	58	1	0	1	0	1	0	0	0	0	3687	1609	56	0	2223	0	COL21A1	6	56035809	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	5322898	56035809	115079258	805	15188											
PHF3	23469	genome.wustl.edu	37	chr6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-																															cctgtagatgatctttctccAaaaaaagtaaaagttgttgt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:64415953delA	ENST00000262043.3	+	12	3742	c.3402delA	c.(3400-3402)ccafs	p.P1134fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1134					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCTTTCTCCAAAAAAAGTAA	0.358																																					GBM(135;136 1820 29512 34071 46235)												0													102	96	98					6																	64415953		2203	4300	6503	SO:0001589	frameshift_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3402delA	6.37:g.64415953delA	ENSP00000262043:p.Pro1134fs		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.V1137fs	ENST00000262043.3	37	c.3402	CCDS4966.1	6																																																																																			PHF3	-	NULL	ENSG00000118482		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2		0	30	0	A			64415953	1	tier1		no_errors	ENST00000262043	ensembl	human	known	74_37	frame_shift_del	40.00	21	14	DEL	0.986	-	-	64415953	A	-	64415953	7	5	58	1	0	1	0	1	0	0	0	0	11875	117	5	0	3444	0	PHF3	6	64415953	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	8380144	64415953	106699114	806	15189											
COL9A1	1297	genome.wustl.edu	37	chr6	70991130	70991130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaactccaggggggcccGgaggcccgggaggaccctgc	6	3	18	14	2	0	0	0	0	0	0	1	4	1	4	4	8	2	0	4	8	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:70991130G>A	ENST00000357250.6	-	8	997	c.839C>T	c.(838-840)cCg>cTg	p.P280L	COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370496.3_Missense_Mutation_p.P280L|COL9A1_ENST00000320755.7_Missense_Mutation_p.P37L|COL9A1_ENST00000370499.4_Missense_Mutation_p.P37L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	280	Collagen-like 1.|Triple-helical region (COL3).			PP -> AS (in Ref. 1; CAA38276/CAA38277). {ECO:0000305}.	axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGGGGGCCCGGAGGCCCGGG	0.597																																																	0													22	26	24					6																	70991130		2203	4300	6503	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.839C>T	6.37:g.70991130G>A	ENSP00000349790:p.Pro280Leu		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P280L	ENST00000357250.6	37	c.839	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270289	0.40194	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499;ENST00000370496	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96677	0.9501	10	0.59425	D	0.04	.	18.8993	0.92435	0.0:0.0:1.0:0.0	.	280;37	P20849;P20849-2	CO9A1_HUMAN;.	L	280;37;37;280	ENSP00000349790:P280L;ENSP00000315252:P37L;ENSP00000359530:P37L;ENSP00000359527:P280L	ENSP00000315252:P37L	P	-	2	0	COL9A1	71047851	1.000000	0.71417	0.668000	0.29813	0.008000	0.06430	7.076000	0.76806	2.722000	0.93159	0.591000	0.81541	CCG	COL9A1	-	pfam_Collagen	ENSG00000112280		0.597	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	-	0	42	0	G			70991130	-1	tier1	-	no_errors	ENST00000357250	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.974	A	A	70991130	G	A	70991130	3	1	58	1	0	0	0	0	1	0	0	0	3714	1116	39	1	2050	1	COL9A1	6	70991130	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6575177	70991130	100123937	807	15190											
B3GAT2	135152	genome.wustl.edu	37	chr6	71666061	71666061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcctgcgcgtgtccacGtcgagcatgatgatgacaat	9	9	12	11	4	0	3	0	3	0	0	2	4	1	3	2	1	2	1	2	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:71666061G>A	ENST00000230053.6	-	1	680	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	24					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGTGTCCACGTCGAGCATGA	0.677																																																	0													13	16	15					6																	71666061		2051	4052	6103	SO:0001819	synonymous_variant	0			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"Beta-1,3-glucuronyltransferases"	922	protein-coding gene	gene with protein product	"glucuronosyltransferase S", "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.72C>T	6.37:g.71666061G>A			Q5JS09|Q8TF38|Q96NK4	Silent	SNP	pfam_Glyco_trans_43	p.D24	ENST00000230053.6	37	c.72	CCDS4974.1	6																																																																																			B3GAT2	-	NULL	ENSG00000112309		0.677	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT2	HGNC	protein_coding	OTTHUMT00000041150.2	-	0	69	0	G	NM_080742		71666061	-1	tier1	-	no_errors	ENST00000230053	ensembl	human	known	74_37	silent	40.62	19	13	SNP	1.000	A	A	71666061	G	A	71666061	2	1	58	1	0	0	0	0	0	0	0	1	1255	1136	40	1		1	B3GAT2	6	71666061	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	674931	71666061	99449006	808	15191											
CD109	135228	genome.wustl.edu	37	chr6	74495145	74495145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctactctgttatcagagGtgaagaatttgctttggaaa	11	14	9	7	0	2	3	1	1	1	2	3	4	3	4	1	2	2	2	1	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:74495145G>T	ENST00000287097.5	+	20	2394	c.2282G>T	c.(2281-2283)gGt>gTt	p.G761V	CD109_ENST00000422508.2_Missense_Mutation_p.G684V|CD109_ENST00000437994.2_Missense_Mutation_p.G761V			Q6YHK3	CD109_HUMAN	CD109 molecule	761					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATCAGAGGTGAAGAATTT	0.333																																																	0													83	83	83					6																	74495145		2202	4300	6502	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2282G>T	6.37:g.74495145G>T	ENSP00000287097:p.Gly761Val		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.G761V	ENST00000287097.5	37	c.2282	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496039	0.85069	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.18016	2.24;2.24;2.24	4.92	4.92	0.64577	Alpha-2-macroglobulin (1);	0.052057	0.85682	D	0.000000	T	0.48314	0.1493	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.63422	-0.6641	10	0.87932	D	0	.	18.3165	0.90223	0.0:0.0:1.0:0.0	.	684;761;761	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	V	761;684;761	ENSP00000388062:G761V;ENSP00000404475:G684V;ENSP00000287097:G761V	ENSP00000287097:G761V	G	+	2	0	CD109	74551866	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.784000	0.91818	2.559000	0.86315	0.655000	0.94253	GGT	CD109	-	pfam_Macroglobln_a2	ENSG00000156535		0.333	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0	49	0	G	NM_133493		74495145	1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	T	T	74495145	G	T	74495145	3	4	58	1	0	0	0	0	1	0	0	0	2970	1261	44	3	2360	3	CD109	6	74495145	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2829084	74495145	96619922	809	15192											
MYO6	4646	genome.wustl.edu	37	chr6	76591494	76591494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactggctcacatgcagtcGctggaagaaagttcagtggt	10	10	12	9	1	3	1	3	0	0	1	4	2	3	2	0	3	1	4	0	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:76591494G>A	ENST00000369977.3	+	23	2514	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Missense_Mutation_p.R792H|MYO6_ENST00000369975.1_Missense_Mutation_p.R792H|MYO6_ENST00000369985.4_Missense_Mutation_p.R792H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	792	Required for binding calmodulin. {ECO:0000250}.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACATGCAGTCGCTGGAAGAAA	0.418																																																	0													146	140	142					6																	76591494		2203	4300	6503	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2375G>A	6.37:g.76591494G>A	ENSP00000358994:p.Arg792His		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R792H	ENST00000369977.3	37	c.2375	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.460939	0.96240	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.84843	0.0809	10	0.56958	D	0.05	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	792;792	Q9UM54-2;Q9UM54-1	.;.	H	792	ENSP00000358998:R792H;ENSP00000359002:R792H;ENSP00000358994:R792H;ENSP00000358992:R792H	ENSP00000358992:R792H	R	+	2	0	MYO6	76648214	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.447000	0.97595	2.596000	0.87737	0.655000	0.94253	CGC	MYO6	-	superfamily_P-loop_NTPase	ENSG00000196586		0.418	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	-	0	118	0	G	NM_004999		76591494	1	tier1	-	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	47.57	54	49	SNP	1.000	A	A	76591494	G	A	76591494	3	1	58	1	0	0	0	0	1	0	0	0	10119	1087	38	1	2461	1	MYO6	6	76591494	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2096349	76591494	94523573	810	15193											
TTK	7272	genome.wustl.edu	37	chr6	80721484	80721484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgcagaaataggttaccGgaattcattgagacaaacta	17	9	9	6	1	1	3	1	1	0	3	1	5	1	4	1	2	3	2	1	2	6	5	rs368343290		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:80721484G>A	ENST00000369798.2	+	7	878	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	TTK_ENST00000509894.1_Missense_Mutation_p.R256Q|TTK_ENST00000230510.3_Missense_Mutation_p.R256Q	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	256					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGGTTACCGGAATTCATTG	0.318																																																	0													62	56	58					6																	80721484		2202	4300	6502	SO:0001583	missense	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.767G>A	6.37:g.80721484G>A	ENSP00000358813:p.Arg256Gln		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R256Q	ENST00000369798.2	37	c.767	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139768	0.21205	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.88741	-2.42;-2.42;-2.42	5.23	-1.1	0.09872	.	0.989049	0.08249	N	0.974953	T	0.62208	0.2409	N	0.25890	0.77	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.09377	0.003;0.004	T	0.49790	-0.8902	10	0.33940	T	0.23	.	4.3976	0.11370	0.4275:0.0:0.4222:0.1503	.	256;256	P33981;A8K8U5	TTK_HUMAN;.	Q	256	ENSP00000422936:R256Q;ENSP00000230510:R256Q;ENSP00000358813:R256Q	ENSP00000230510:R256Q	R	+	2	0	TTK	80778203	0.000000	0.05858	0.034000	0.17996	0.361000	0.29550	-0.784000	0.04633	-0.212000	0.10109	0.563000	0.77884	CGG	TTK	-	NULL	ENSG00000112742		0.318	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0	47	0	G			80721484	1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	32.08	34	17	SNP	0.116	A	A	80721484	G	A	80721484	3	1	58	1	0	0	0	0	1	0	0	0	16769	1116	39	1	789	1	TTK	6	80721484	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4129990	80721484	90393583	811	15194											
SNAP91	9892	genome.wustl.edu	37	chr6	84333061	84333061	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctttatcaataccaacttGctgtggatttaaaaaattag	15	14	5	7	0	1	0	1	0	0	0	1	1	1	1	2	1	3	1	2	1	8	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:84333061G>T	ENST00000439399.2	-	9	1082	c.766C>A	c.(766-768)Caa>Aaa	p.Q256K	SNAP91_ENST00000369694.2_Splice_Site_p.Q256K|SNAP91_ENST00000428679.2_Splice_Site_p.Q256K|SNAP91_ENST00000520302.1_Splice_Site_p.Q256K|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000195649.6_Splice_Site_p.Q256K|SNAP91_ENST00000521485.1_Splice_Site_p.Q256K|SNAP91_ENST00000521743.1_Splice_Site_p.Q256K|SNAP91_ENST00000437520.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	256					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.Q256K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATACCAACTTGCTGTGGATTT	0.308																																																	2	Substitution - Missense(2)	lung(2)											80	70	73					6																	84333061		1806	4073	5879	SO:0001630	splice_region_variant	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.766-1C>A	6.37:g.84333061G>T			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q256K	ENST00000439399.2	37	c.766	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425418	0.62733	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.46	5.46	0.80206	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.155020	0.64402	N	0.000014	T	0.33673	0.0871	L	0.39326	1.205	0.80722	D	1	P;D;P	0.56287	0.914;0.975;0.914	P;P;P	0.57152	0.814;0.618;0.814	T	0.08249	-1.0731	10	0.87932	D	0	-6.673	17.0791	0.86593	0.0:0.0:1.0:0.0	.	256;256;256	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	K	256	ENSP00000429776:Q256K;ENSP00000358708:Q256K;ENSP00000400459:Q256K;ENSP00000195649:Q256K;ENSP00000412492:Q256K;ENSP00000428511:Q256K;ENSP00000428215:Q256K;ENSP00000430071:Q256K	ENSP00000195649:Q256K	Q	-	1	0	SNAP91	84389780	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.972000	0.70448	2.576000	0.86940	0.655000	0.94253	CAA	SNAP91	-	pfam_ANTH_dom	ENSG00000065609		0.308	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1		0	27	0	G		Missense_Mutation	84333061	-1			no_errors	ENST00000369694	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	84333061	G	T	84333061	5	4	58	1	0	0	0	0	0	0	1	0	14878	1333	46	3	2037	3	SNAP91	6	84333061	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3611577	84333061	86782006	812	15195											
C6orf165	154313	genome.wustl.edu	37	chr6	88120371	88120371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctcatgaaaagtgatgtGcagaatcttgttaaggtgat	13	12	10	6	0	2	4	1	3	1	1	2	4	2	4	1	1	1	2	1	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:88120371G>A	ENST00000507897.1	+	3	260	c.177G>A	c.(175-177)gtG>gtA	p.V59V	C6ORF165_ENST00000369562.4_Silent_p.V59V			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	59										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AAAGTGATGTGCAGAATCTTG	0.358																																																	0													162	157	159					6																	88120371		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.177G>A	6.37:g.88120371G>A			A8K969|E1P507|Q8N9U4	Silent	SNP	pfam_DUF3508	p.V59	ENST00000507897.1	37	c.177	CCDS34498.1	6																																																																																			C6ORF165	-	NULL	ENSG00000272514		0.358	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	Uniprot_gn	protein_coding	OTTHUMT00000470406.1	-	0	67	0	G	NM_178823		88120371	1	tier1	-	no_errors	ENST00000369562	ensembl	human	known	74_37	silent	33.90	39	20	SNP	0.995	A	A	88120371	G	A	88120371	2	1	58	1	0	0	0	0	0	0	0	1	2348	1306	46	3		3	C6orf165	6	88120371	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3787310	88120371	82994696	813	15196											
MDN1	23195	genome.wustl.edu	37	chr6	90458950	90458950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaactaagtacctgaagatCcagcatgactttaaccaact	16	9	6	10	0	0	3	0	2	0	1	1	4	1	3	3	0	5	2	3	0	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:90458950C>T	ENST00000369393.3	-	26	3869	c.3754G>A	c.(3754-3756)Gat>Aat	p.D1252N	MDN1_ENST00000428876.1_Missense_Mutation_p.D1252N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1252					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCTGAAGATCCAGCATGACT	0.388																																																	0													66	57	60					6																	90458950		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3754G>A	6.37:g.90458950C>T	ENSP00000358400:p.Asp1252Asn		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D1252N	ENST00000369393.3	37	c.3754	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367057	0.61513	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.18657	2.81;2.81;2.2	5.43	5.43	0.79202	.	0.053662	0.64402	D	0.000001	T	0.17959	0.0431	M	0.71871	2.18	0.58432	D	0.999999	B	0.29531	0.247	B	0.26969	0.075	T	0.02691	-1.1123	10	0.54805	T	0.06	.	19.2615	0.93970	0.0:1.0:0.0:0.0	.	1252	Q9NU22	MDN1_HUMAN	N	1252;1252;1179	ENSP00000358400:D1252N;ENSP00000413970:D1252N;ENSP00000409664:D1179N	ENSP00000358400:D1252N	D	-	1	0	MDN1	90515671	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	4.441000	0.59981	2.523000	0.85059	0.655000	0.94253	GAT	MDN1	-	superfamily_P-loop_NTPase,pirsf_Midasin	ENSG00000112159		0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	47	0	C			90458950	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	T	T	90458950	C	T	90458950	3	4	58	1	0	0	0	0	1	0	0	0	9453	855	30	3	13344	3	MDN1	6	90458950	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2338579	90458950	80656117	814	15197											
MAP3K7	6885	genome.wustl.edu	37	chr6	91246115	91246115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctacgtcttggctgtcCgttgcctttaaaaagaagaa	11	12	10	8	2	2	2	0	0	2	2	3	3	3	3	2	2	2	2	2	2	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:91246115C>T	ENST00000369329.3	-	13	1458	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	MAP3K7_ENST00000369320.1_Missense_Mutation_p.G87R|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.G406R|MAP3K7_ENST00000369327.3_Missense_Mutation_p.G406R|MAP3K7_ENST00000369325.3_Missense_Mutation_p.G433R	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	433					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.G406*(1)|p.G433*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTGGCTGTCCGTTGCCTTTA	0.363																																																	2	Substitution - Nonsense(2)	lung(2)											94	88	90					6																	91246115		2203	4300	6503	SO:0001583	missense	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1297G>A	6.37:g.91246115C>T	ENSP00000358335:p.Gly433Arg		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G433R	ENST00000369329.3	37	c.1297	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511719	0.44660	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	T;T;T;T	0.76578	-0.99;-0.96;-1.03;-1.03	5.73	4.86	0.63082	.	0.201216	0.52532	D	0.000074	T	0.54143	0.1840	N	0.22421	0.69	0.51233	D	0.999918	D;P;B;B	0.53619	0.961;0.759;0.008;0.002	B;B;B;B	0.40477	0.33;0.086;0.004;0.0	T	0.59752	-0.7395	10	0.38643	T	0.18	.	16.5767	0.84681	0.0:0.8696:0.1304:0.0	.	406;406;433;433	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	R	406;433;433;406;87;333	ENSP00000358338:G406R;ENSP00000358335:G433R;ENSP00000358331:G433R;ENSP00000358333:G406R	ENSP00000358326:G87R	G	-	1	0	MAP3K7	91302836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.161000	0.64935	1.411000	0.46957	0.650000	0.86243	GGA	MAP3K7	-	pirsf_MAPKKK7	ENSG00000135341		0.363	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	-	0	22	0	C	NM_145331		91246115	-1	tier1	-	no_errors	ENST00000369329	ensembl	human	known	74_37	missense	58.33	10	14	SNP	1.000	T	T	91246115	C	T	91246115	3	4	58	1	0	0	0	0	1	0	0	0	9293	661	23	1	543	1	MAP3K7	6	91246115	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	787165	91246115	79868952	815	15198											
SFRS18	25957	genome.wustl.edu	37	chr6	99858807	99858807	+	Frame_Shift_Del	DEL	G	G	-																															gcatccatggctgatctggaGgggggtgtgggggttgctga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:99858807delG	ENST00000369239.5	-	5	515	c.311delC	c.(310-312)cctfs	p.P105fs	PNISR_ENST00000438806.1_Frame_Shift_Del_p.P105fs|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	105	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGATCTGGAGGGGGGTGTGG	0.468																																																	0																																										SO:0001589	frameshift_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.311delC	6.37:g.99858807delG	ENSP00000358242:p.Pro105fs		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Frame_Shift_Del	DEL	NULL	p.P104fs	ENST00000369239.5	37	c.311	CCDS5043.1	6																																																																																			PNISR	-	NULL	ENSG00000132424		0.468	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1		0	72	0	G	NM_032870		99858807	-1	tier1		no_errors	ENST00000369239	ensembl	human	known	74_37	frame_shift_del	35.71	63	35	DEL	1.000	-	-	99858807	G	-	99858807	7	5	58	1	0	1	0	1	0	0	0	0	14219	1000	35	0	2138	0	SFRS18	6	99858807	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	8612692	99858807	71256260	816	15199											
MCHR2	84539	genome.wustl.edu	37	chr6	100382357	100382358	+	Frame_Shift_Ins	INS	-	-	A																															ccaaaatcaagggtagagggINSaaaaaaaaagttgttatcgt																								rs200957067		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:100382357_100382358insA	ENST00000281806.2	-	5	937_938	c.623_624insT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Ins_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAGT	0.342																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.624dupT	6.37:g.100382366_100382366dupA	ENSP00000281806:p.Phe208fs		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.L210fs	ENST00000281806.2	37	c.624_623	CCDS5044.1	6																																																																																			MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000152034		0.342	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2		0	38	0	-	NM_032503		100382358	-1	tier1		no_errors	ENST00000281806	ensembl	human	known	74_37	frame_shift_ins	26.67	33	12	INS	1.000:1.000	A	A	100382358	-	A	100382357	7	5	58	1	0	1	1	0	0	0	0	0	9421	1165	41	0	406	0	MCHR2	6	100382357	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	523550	100382357	70732710	817	15200											
RTN4IP1	84816	genome.wustl.edu	37	chr6	107076703	107076703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatagtgtatgataggcAtcatcatgttctgagtgaat	11	15	11	4	0	3	3	2	3	1	0	3	4	3	4	0	2	0	3	0	2	4	5	rs369908058		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:107076703A>G	ENST00000369063.3	-	1	659	c.194T>C	c.(193-195)aTg>aCg	p.M65T	QRSL1_ENST00000369046.4_5'Flank|QRSL1_ENST00000369044.1_5'Flank|RTN4IP1_ENST00000539449.1_Missense_Mutation_p.M65T	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	65				M -> V (in Ref. 1; AAL34525). {ECO:0000305}.		mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TATGATAGGCATCATCATGTT	0.388																																																	0								A	THR/MET	0,4406		0,0,2203	144	126	132		194	5.8	0.9	6		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	RTN4IP1	NM_032730.4	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	65/397	107076703	1,13005	2203	4300	6503	SO:0001583	missense	0			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.194T>C	6.37:g.107076703A>G	ENSP00000358059:p.Met65Thr		Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.M65T	ENST00000369063.3	37	c.194	CCDS5056.1	6	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970389	0.53614	0.0	1.16E-4	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.41400	1.0;1.0	5.85	5.85	0.93711	GroES-like (1);	0.738282	0.14113	N	0.340561	T	0.13927	0.0337	N	0.24115	0.695	0.27587	N	0.949403	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.0	T	0.09250	-1.0683	10	0.13108	T	0.6	-0.4987	15.2247	0.73342	1.0:0.0:0.0:0.0	.	65;65	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	T	65	ENSP00000444261:M65T;ENSP00000358059:M65T	ENSP00000358059:M65T	M	-	2	0	RTN4IP1	107183396	1.000000	0.71417	0.858000	0.33744	0.963000	0.63663	8.497000	0.90488	2.234000	0.73211	0.533000	0.62120	ATG	RTN4IP1	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000130347		0.388	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	-	0	47	0	A			107076703	-1	tier1	-	no_errors	ENST00000369063	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.982	G	G	107076703	A	G	107076703	3	3	58	1	0	0	0	0	1	0	0	0	13774	217	8	4	1032	4	RTN4IP1	6	107076703	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	6694346	107076703	64038364	818	15201											
BEND3	57673	genome.wustl.edu	37	chr6	107391188	107391188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcctggtgaggaggcttCgtccaggaactcagtgaggt	7	9	15	10	2	1	2	1	2	0	0	4	4	2	4	2	5	1	1	2	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:107391188C>T	ENST00000369042.1	-	4	1397	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	BEND3_ENST00000429433.2_Missense_Mutation_p.E403K			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	403	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGGAGGCTTCGTCCAGGAAC	0.617																																																	0													66	68	68					6																	107391188		2203	4300	6503	SO:0001583	missense	0			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1207G>A	6.37:g.107391188C>T	ENSP00000358038:p.Glu403Lys		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.E403K	ENST00000369042.1	37	c.1207	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944114	0.73672	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	BEN domain (1);	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	L	0.47716	1.5	0.58432	D	0.999999	D	0.76494	0.999	P	0.58721	0.844	T	0.67534	-0.5646	9	0.62326	D	0.03	-17.9509	19.1834	0.93632	0.0:1.0:0.0:0.0	.	403	Q5T5X7	BEND3_HUMAN	K	403	.	ENSP00000358038:E403K	E	-	1	0	BEND3	107497881	1.000000	0.71417	0.994000	0.49952	0.592000	0.36648	7.219000	0.78000	2.774000	0.95407	0.561000	0.74099	GAA	BEND3	-	NULL	ENSG00000178409		0.617	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	-	0	26	0	C	NM_020913		107391188	-1	tier1	-	no_errors	ENST00000369042	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T	T	107391188	C	T	107391188	3	4	58	1	0	0	0	0	1	0	0	0	1400	893	31	1	1283	1	BEND3	6	107391188	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	314485	107391188	63723879	819	15202											
BEND3	57673	genome.wustl.edu	37	chr6	107391210	107391210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaactcagtgaggtcCtgcgtgtccaccacgtggtc	7	9	12	13	2	1	1	1	1	0	0	5	2	4	2	4	3	2	0	4	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:107391210C>A	ENST00000369042.1	-	4	1375	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	BEND3_ENST00000429433.2_Missense_Mutation_p.Q395H			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	395	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGTGAGGTCCTGCGTGTCCA	0.632																																																	0													72	73	73					6																	107391210		2203	4300	6503	SO:0001583	missense	0			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"BEN domain containing"	23040	protein-coding gene	gene with protein product			"KIAA1553"	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1185G>T	6.37:g.107391210C>A	ENSP00000358038:p.Gln395His		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.Q395H	ENST00000369042.1	37	c.1185	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992147	0.35131	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	4.46	0.54185	BEN domain (1);	0.074711	0.56097	D	0.000028	T	0.28366	0.0701	L	0.34521	1.04	0.43088	D	0.994756	B	0.24963	0.115	B	0.21546	0.035	T	0.17077	-1.0381	9	0.39692	T	0.17	1.189	10.3564	0.43967	0.0:0.8509:0.0:0.1491	.	395	Q5T5X7	BEND3_HUMAN	H	395	.	ENSP00000358038:Q395H	Q	-	3	2	BEND3	107497903	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.422000	0.34826	1.492000	0.48499	0.561000	0.74099	CAG	BEND3	-	NULL	ENSG00000178409		0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	-	0	34	0	C	NM_020913		107391210	-1	tier1	-	no_errors	ENST00000369042	ensembl	human	known	74_37	missense	50.00	14	14	SNP	1.000	A	A	107391210	C	A	107391210	3	1	58	1	0	0	0	0	1	0	0	0	1400	680	24	3	1305	3	BEND3	6	107391210	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	22	107391210	63723857	820	15203											
SCML4	256380	genome.wustl.edu	37	chr6	108066223	108066223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcccctggggaagggctgGtggctgaagaggtcatcgca	8	6	17	10	1	1	2	1	1	0	1	2	3	1	3	2	6	1	3	2	6	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:108066223G>T	ENST00000369020.3	-	5	857	c.612C>A	c.(610-612)caC>caA	p.H204Q	SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369022.2_Missense_Mutation_p.H146Q|SCML4_ENST00000369021.3_Missense_Mutation_p.H175Q	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGAAGGGCTGGTGGCTGAAGA	0.612																																																	0													82	70	74					6																	108066223		2203	4300	6503	SO:0001583	missense	0				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.612C>A	6.37:g.108066223G>T	ENSP00000358016:p.His204Gln		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588	p.H175Q	ENST00000369020.3	37	c.525	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147352	0.57151	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.38	5.38	0.77491	.	0.252204	0.45126	D	0.000394	T	0.29652	0.0740	L	0.29908	0.895	0.34566	D	0.71289	P;P;D	0.53462	0.784;0.773;0.96	P;P;P	0.51701	0.494;0.449;0.677	T	0.03433	-1.1037	10	0.29301	T	0.29	.	14.5831	0.68305	0.0714:0.0:0.9286:0.0	.	204;204;175	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	Q	146;204;175;175	ENSP00000358018:H146Q;ENSP00000358016:H204Q;ENSP00000358017:H175Q;ENSP00000404688:H175Q	ENSP00000358016:H204Q	H	-	3	2	SCML4	108172916	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.773000	0.26661	2.793000	0.96121	0.655000	0.94253	CAC	SCML4	-	pfam_DUF3588	ENSG00000146285		0.612	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3		0	55	0	G	XM_171128		108066223	-1			no_errors	ENST00000369021	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	108066223	G	T	108066223	3	4	58	1	0	0	0	0	1	0	0	0	13956	1252	44	3	648	3	SCML4	6	108066223	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	675013	108066223	63048844	821	15204											
LACE1	246269	genome.wustl.edu	37	chr6	108840979	108840979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagtgagttggagcaaaGcagaatactgatggatgatt	14	10	13	4	0	0	5	0	4	0	1	0	7	0	7	0	2	3	3	0	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:108840979G>T	ENST00000368977.4	+	12	1469	c.1283G>T	c.(1282-1284)aGc>aTc	p.S428I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	428						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTGGAGCAAAGCAGAATACTG	0.373																																																	0													132	123	126					6																	108840979		2203	4300	6503	SO:0001583	missense	0			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"ATPase family gene 1 homolog (S. cerevisiae)"					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1283G>T	6.37:g.108840979G>T	ENSP00000357973:p.Ser428Ile		Q8N6A3	Missense_Mutation	SNP	pfam_ATPase_AFG1-like,superfamily_P-loop_NTPase	p.S428I	ENST00000368977.4	37	c.1283	CCDS5067.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.256418|2.256418	0.39896|0.39896	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977	.|.	.|.	.|.	5.82|5.82	3.1|3.1	0.35709|0.35709	.|.	.|0.247105	.|0.53938	.|D	.|0.000056	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.50333|0.50333	1.59|1.59	0.47778|0.47778	D|D	0.999518|0.999518	.|B	.|0.16603	.|0.018	.|B	.|0.19946	.|0.027	T|T	0.21793|0.21793	-1.0235|-1.0235	5|9	.|0.39692	.|T	.|0.17	-3.1862|-3.1862	10.6504|10.6504	0.45645|0.45645	0.2086:0.0:0.7914:0.0|0.2086:0.0:0.7914:0.0	.|.	.|428	.|Q8WV93	.|LACE1_HUMAN	S|I	296|428	.|.	.|ENSP00000357973:S428I	A|S	+|+	1|2	0|0	LACE1|LACE1	108947672|108947672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.191000|1.191000	0.32138|0.32138	0.384000|0.384000	0.24942|0.24942	0.561000|0.561000	0.74099|0.74099	GCA|AGC	LACE1	-	NULL	ENSG00000135537		0.373	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACE1	HGNC	protein_coding	OTTHUMT00000041719.4		0	39	0	G	NM_145315		108840979	1			no_errors	ENST00000368977	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	108840979	G	T	108840979	3	4	58	1	0	0	0	0	1	0	0	0	8623	971	34	3	1329	3	LACE1	6	108840979	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	774756	108840979	62274088	822	15205											
AKD1	221264	genome.wustl.edu	37	chr6	109814612	109814612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatttctgagagagagaaagGtctttaacttatgatcaaag	15	13	9	4	0	3	4	1	2	2	2	3	6	3	4	0	1	1	0	0	1	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:109814612G>C	ENST00000424296.2	-	41	5772	c.5696C>G	c.(5695-5697)aCc>aGc	p.T1899S	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1899					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGAGAGAAAGGTCTTTAACTT	0.388																																																	0													195	195	195					6																	109814612		2203	4300	6503	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5696C>G	6.37:g.109814612G>C	ENSP00000410186:p.Thr1899Ser		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1899S	ENST00000424296.2	37	c.5696	CCDS55048.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	5.862|5.862|5.862	0.343218|0.343218|0.343218	0.11069|0.11069|0.11069	.|.|.	.|.|.	ENSG00000155085|ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000470564|ENST00000424296	.|.|T	.|.|0.64260	.|.|-0.09	5.58|5.58|5.58	2.83|2.83|2.83	0.33086|0.33086|0.33086	.|.|.	.|.|0.414174	.|.|0.27420	.|.|N	.|.|0.019452	T|T|T	0.22781|0.22781|0.22781	0.0550|0.0550|0.0550	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B	.|.|0.15473	.|.|0.007;0.013	.|.|B;B	.|.|0.13407	.|.|0.007;0.009	T|T|T	0.05920|0.05920|0.05920	-1.0856|-1.0856|-1.0856	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	8.8166|8.8166|8.8166	0.35000|0.35000|0.35000	0.1354:0.1244:0.7401:0.0|0.1354:0.1244:0.7401:0.0|0.1354:0.1244:0.7401:0.0	.|.|.	.|.|284;1899	.|.|B7ZL24;Q5TCS8	.|.|.;AKD1_HUMAN	E|A|S	299|737|1899	.|.|ENSP00000410186:T1899S	.|.|.	D|P|T	-|-|-	3|1|2	2|0|0	AKD1|AKD1|AKD1	109921305|109921305|109921305	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.964000|0.964000|0.964000	0.40570|0.40570|0.40570	0.531000|0.531000|0.531000	0.34715|0.34715|0.34715	1.937000|1.937000|1.937000	0.40193|0.40193|0.40193	0.309000|0.309000|0.309000	0.22966|0.22966|0.22966	-1.054000|-1.054000|-1.054000	0.02325|0.02325|0.02325	GAC|CCT|ACC	AK9	-	NULL	ENSG00000155085		0.388	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0	74	0	G	NM_001145128		109814612	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	43.18	50	38	SNP	0.985	C	C	109814612	G	C	109814612	3	2	58	1	0	0	0	0	1	0	0	0	460	1261	44	5	43	5	AKD1	6	109814612	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	973633	109814612	61300455	823	15206											
REV3L	5980	genome.wustl.edu	37	chr6	111710326	111710326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgtgactcaggttggCtcatttgagaagtttcattt	8	17	9	7	0	3	2	3	2	0	1	3	3	3	2	1	2	1	3	1	2	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:111710326C>T	ENST00000358835.3	-	8	1299	c.845G>A	c.(844-846)aGc>aAc	p.S282N	REV3L_ENST00000435970.1_Missense_Mutation_p.S204N|REV3L_ENST00000368805.1_Missense_Mutation_p.S282N|REV3L_ENST00000368802.3_Missense_Mutation_p.S282N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	282					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTCAGGTTGGCTCATTTGAGA	0.368								DNA polymerases (catalytic subunits)																																									0													229	197	208					6																	111710326		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.845G>A	6.37:g.111710326C>T	ENSP00000351697:p.Ser282Asn		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S282N	ENST00000358835.3	37	c.845	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266321	0.40095	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.48	1.47	0.22746	Ribonuclease H-like (1);	0.662303	0.15563	N	0.255807	T	0.10508	0.0257	M	0.68317	2.08	0.20074	N	0.999935	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	10	0.31617	T	0.26	-9.3566	3.31	0.07014	0.1215:0.5456:0.1183:0.2146	.	282	O60673	DPOLZ_HUMAN	N	282;282;282;204	ENSP00000357792:S282N;ENSP00000357795:S282N;ENSP00000351697:S282N;ENSP00000402003:S204N	ENSP00000351697:S282N	S	-	2	0	REV3L	111817019	0.361000	0.24972	0.994000	0.49952	0.935000	0.57460	0.693000	0.25497	0.365000	0.24400	-0.136000	0.14681	AGC	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	82	0	C	NM_002912		111710326	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	8.60	85	8	SNP	0.305	T	T	111710326	C	T	111710326	3	4	58	1	0	0	0	0	1	0	0	0	13285	797	28	3	8651	3	REV3L	6	111710326	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1895714	111710326	59404741	824	15207											
TSPYL1	7259	genome.wustl.edu	37	chr6	116600626	116600626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccaccctgaacgcccTttttcaggctgcggtcggct	4	12	9	16	3	2	1	1	1	1	0	5	1	3	1	3	3	2	2	3	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:116600626T>C	ENST00000368608.3	-	1	440	c.368A>G	c.(367-369)aAg>aGg	p.K123R	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	123					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTGAACGCCCTTTTTCAGGCT	0.662																																																	0													39	44	42					6																	116600626		2203	4297	6500	SO:0001583	missense	0			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.368A>G	6.37:g.116600626T>C	ENSP00000357597:p.Lys123Arg		O75885|Q5TFE6	Missense_Mutation	SNP	pfam_NAP_family	p.K123R	ENST00000368608.3	37	c.368	CCDS34518.1	6	.	.	.	.	.	.	.	.	.	.	T	9.155	1.017356	0.19355	.	.	ENSG00000189241	ENST00000368608;ENST00000545830	T	0.25912	1.77	3.7	-2.59	0.06209	.	.	.	.	.	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44605	-0.9317	9	0.15499	T	0.54	0.0969	5.426	0.16425	0.0:0.1557:0.5443:0.3	.	123	Q9H0U9	TSYL1_HUMAN	R	123	ENSP00000357597:K123R	ENSP00000357597:K123R	K	-	2	0	TSPYL1	116707319	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.070000	0.11523	-0.445000	0.07159	0.459000	0.35465	AAG	TSPYL1	-	NULL	ENSG00000189241		0.662	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL1	HGNC	protein_coding	OTTHUMT00000041929.1	-	0	87	0	T			116600626	-1	tier1	-	no_errors	ENST00000368608	ensembl	human	known	74_37	missense	48.19	43	40	SNP	0.000	C	C	116600626	T	C	116600626	3	2	58	1	0	0	0	0	1	0	0	0	16707	1609	56	4	949	4	TSPYL1	6	116600626	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	4890300	116600626	54514441	825	15208											
FAM26E	254228	genome.wustl.edu	37	chr6	116836792	116836792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcctgatttgttcagcGtctttcttctctctgctcac	3	18	8	12	1	6	1	2	1	4	0	7	1	6	1	1	1	3	2	1	1	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:116836792G>A	ENST00000368599.3	+	2	621	c.570G>A	c.(568-570)gcG>gcA	p.A190A	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	190					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTGTTCAGCGTCTTTCTTCT	0.423																																																	0													168	172	170					6																	116836792		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 188"	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.570G>A	6.37:g.116836792G>A			B2RDJ9|B3KSR3	Silent	SNP	NULL	p.A190	ENST00000368599.3	37	c.570	CCDS5108.1	6																																																																																			FAM26E	-	NULL	ENSG00000178033		0.423	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	-	0	61	0	G	NM_153711		116836792	1	tier1	-	no_errors	ENST00000368599	ensembl	human	known	74_37	silent	28.09	64	25	SNP	0.236	A	A	116836792	G	A	116836792	2	1	58	1	0	0	0	0	0	0	0	1	5572	1132	40	1		1	FAM26E	6	116836792	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	236166	116836792	54278275	826	15209											
RSPH4A	345895	genome.wustl.edu	37	chr6	116951691	116951691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatccaacctttggcctgGagcatatgccttctccaatg	9	12	7	13	0	2	0	1	0	1	0	4	1	3	1	5	2	3	1	5	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:116951691G>T	ENST00000229554.5	+	5	2029	c.1892G>T	c.(1891-1893)gGa>gTa	p.G631V	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E586*|RSPH4A_ENST00000368580.4_Missense_Mutation_p.G384V	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	631					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTGGCCTGGAGCATATGCC	0.408									Kartagener syndrome																																								0													140	116	124					6																	116951691		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1892G>T	6.37:g.116951691G>T	ENSP00000229554:p.Gly631Val		B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	pfam_Radial_spoke	p.E586*	ENST00000229554.5	37	c.1756	CCDS34521.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.551915|7.551915	0.98355|0.98355	.|.	.|.	ENSG00000111834|ENSG00000111834	ENST00000368581|ENST00000229554;ENST00000447842;ENST00000368580	.|T;T	.|0.72051	.|-0.62;-0.62	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.82692	.|0.5092	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999984|0.999984	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.84866	.|0.0822	.|9	0.87932|0.87932	D|D	0|0	-28.5613|-28.5613	16.8765|16.8765	0.86053|0.86053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|631	.|Q5TD94	.|RSH4A_HUMAN	X|V	586|631;426;384	.|ENSP00000229554:G631V;ENSP00000357569:G384V	ENSP00000357570:E586X|ENSP00000229554:G631V	E|G	+|+	1|2	0|0	RSPH4A|RSPH4A	117058384|117058384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.461000|9.461000	0.97646|0.97646	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	GAG|GGA	RSPH4A	-	NULL	ENSG00000111834		0.408	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1		0	69	0	G	NM_001010892		116951691	1			no_errors	ENST00000368581	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	116951691	G	T	116951691	3	4	58	1	0	0	0	0	1	0	0	0	13751	1175	41	3	1910	3	RSPH4A	6	116951691	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	114899	116951691	54163376	827	15210											
GPRC6A	222545	genome.wustl.edu	37	chr6	117113925	117113925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaaagattagccagaGtgtgcaaatgacaacctgga	14	8	11	8	0	0	3	0	1	0	2	0	4	0	4	2	1	5	3	2	1	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:117113925G>T	ENST00000310357.3	-	6	2182	c.2161C>A	c.(2161-2163)Ctc>Atc	p.L721I	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L650I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L546I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	721					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTAGCCAGAGTGTGCAAATG	0.463																																																	0													81	75	77					6																	117113925		2203	4300	6503	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2161C>A	6.37:g.117113925G>T	ENSP00000309493:p.Leu721Ile		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.L721I	ENST00000310357.3	37	c.2161	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.420407	0.00188	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87412	-2.25;-2.25;-2.25	4.37	1.23	0.21249	GPCR, family 3, C-terminal (2);	0.596488	0.14913	N	0.291092	T	0.38612	0.1047	N	0.05441	-0.05	0.09310	N	1	B;B;B	0.30482	0.0;0.281;0.006	B;B;B	0.26517	0.007;0.07;0.02	T	0.51505	-0.8697	10	0.02654	T	1	.	0.9756	0.01425	0.1951:0.1311:0.2561:0.4176	.	650;546;721	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	I	721;650;546	ENSP00000309493:L721I;ENSP00000357537:L650I;ENSP00000433465:L546I	ENSP00000309493:L721I	L	-	1	0	GPRC6A	117220618	0.000000	0.05858	0.318000	0.25279	0.316000	0.28119	-0.102000	0.10956	0.468000	0.27243	0.591000	0.81541	CTC	GPRC6A	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000173612		0.463	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	-	0	46	0	G			117113925	-1	tier1	-	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.000	T	T	117113925	G	T	117113925	3	4	58	1	0	0	0	0	1	0	0	0	6755	1029	36	3	623	3	GPRC6A	6	117113925	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	162234	117113925	54001142	828	15211											
SLC35F1	222553	genome.wustl.edu	37	chr6	118596719	118596719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacatcatccgaactctgagCcgagtggaattcctgggaat	11	10	10	10	2	2	1	1	1	1	0	4	5	4	3	3	2	3	0	3	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:118596719C>T	ENST00000360388.4	+	5	936	c.735C>T	c.(733-735)agC>agT	p.S245S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	245					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GAACTCTGAGCCGAGTGGAAT	0.423																																																	0													113	111	112					6																	118596719		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.735C>T	6.37:g.118596719C>T			E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	pfam_SLC35_F1/F2/F6,pfam_DMT	p.S245	ENST00000360388.4	37	c.735	CCDS34524.1	6																																																																																			SLC35F1	-	pfam_SLC35_F1/F2/F6,pfam_DMT	ENSG00000196376		0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	-	0	108	0	C	XM_167044		118596719	1	tier1	-	no_errors	ENST00000360388	ensembl	human	known	74_37	silent	26.80	71	26	SNP	1.000	T	T	118596719	C	T	118596719	2	4	58	1	0	0	0	0	0	0	0	1	14633	738	26	3		3	SLC35F1	6	118596719	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1482794	118596719	52518348	829	15212											
ASF1A	25842	genome.wustl.edu	37	chr6	119226836	119226836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgatgcacctaatccagGactcattccagatgcagatg	11	9	10	11	0	1	3	1	1	0	2	3	4	3	4	3	2	2	3	3	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:119226836G>T	ENST00000229595.5	+	3	439	c.245G>T	c.(244-246)gGa>gTa	p.G82V	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	82	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		CCTAATCCAGGACTCATTCCA	0.383																																																	0													192	193	193					6																	119226836		1904	4130	6034	SO:0001583	missense	0			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.245G>T	6.37:g.119226836G>T	ENSP00000229595:p.Gly82Val		Q6IA08|Q9P014	Missense_Mutation	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.G82V	ENST00000229595.5	37	c.245	CCDS47469.1	6	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958041	0.53400	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.34521	1.04	0.80722	D	1	P	0.38551	0.636	P	0.46172	0.506	T	0.51803	-0.8659	9	0.62326	D	0.03	-20.3978	11.9011	0.52685	0.0654:0.1224:0.8122:0.0	.	82	Q9Y294	ASF1A_HUMAN	V	82	.	ENSP00000229595:G82V	G	+	2	0	ASF1A	119268535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.734000	0.62043	1.630000	0.50440	0.655000	0.94253	GGA	ASF1A	-	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	ENSG00000111875		0.383	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1A	HGNC	protein_coding	OTTHUMT00000361910.1	-	0	55	0	G	NM_014034		119226836	1	tier1	-	no_errors	ENST00000229595	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T	T	119226836	G	T	119226836	3	4	58	1	0	0	0	0	1	0	0	0	1038	1174	41	3	142	3	ASF1A	6	119226836	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	630117	119226836	51888231	830	15213											
FAM184A	79632	genome.wustl.edu	37	chr6	119338013	119338013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagtcttagaatgggcctCgtttaattgagtcacctcct	10	13	8	10	1	2	2	1	1	1	1	4	2	3	2	3	1	0	1	3	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:119338013C>T	ENST00000338891.7	-	5	1872	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	FAM184A_ENST00000368475.4_Missense_Mutation_p.E357K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E357K|FAM184A_ENST00000522284.1_Missense_Mutation_p.E357K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E477K|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	477						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GAATGGGCCTCGTTTAATTGA	0.368																																																	0													134	129	131					6																	119338013		1823	4083	5906	SO:0001583	missense	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 60"	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1429G>A	6.37:g.119338013C>T	ENSP00000342604:p.Glu477Lys		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.E477K	ENST00000338891.7	37	c.1429	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512216	0.64522	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00463	7.25;7.25;7.25;7.25;7.25	5.18	4.31	0.51392	.	0.049067	0.85682	D	0.000000	T	0.00144	0.0004	L	0.41236	1.265	0.80722	D	1	B;B;B	0.28584	0.178;0.108;0.216	B;B;B	0.19391	0.025;0.014;0.024	T	0.65187	-0.6229	10	0.16896	T	0.51	-13.418	13.9677	0.64218	0.0:0.9252:0.0:0.0748	.	477;357;477	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	477;357;357;477;357	ENSP00000342604:E477K;ENSP00000326608:E357K;ENSP00000357460:E357K;ENSP00000430442:E477K;ENSP00000429826:E357K	ENSP00000342604:E477K	E	-	1	0	FAM184A	119379712	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	4.358000	0.59442	2.433000	0.82419	0.491000	0.48974	GAG	FAM184A	-	NULL	ENSG00000111879		0.368	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	-	0	62	0	C	NM_024581		119338013	-1	tier1	-	no_errors	ENST00000338891	ensembl	human	known	74_37	missense	39.02	50	32	SNP	1.000	T	T	119338013	C	T	119338013	3	4	58	1	0	0	0	0	1	0	0	0	5530	893	31	1	2049	1	FAM184A	6	119338013	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	111177	119338013	51777054	831	15214											
C6orf170	221322	genome.wustl.edu	37	chr6	121412157	121412157	+	Frame_Shift_Del	DEL	A	A	-																															tatccaatctaagtaattccAaaaacactgggttatccatt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:121412157delA	ENST00000398212.2	-	31	3545	c.3496delT	c.(3496-3498)tggfs	p.W1166fs	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Frame_Shift_Del_p.W1207fs	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1166	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AAGTAATTCCAAAAACACTGG	0.279																																																	0													106	108	108					6																	121412157		1815	4063	5878	SO:0001589	frameshift_variant	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3496delT	6.37:g.121412157delA	ENSP00000381270:p.Trp1166fs		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Frame_Shift_Del	DEL	superfamily_Rab-GTPase-TBC_dom	p.W1207fs	ENST00000398212.2	37	c.3619	CCDS43501.1	6																																																																																			TBC1D32	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000146350		0.279	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2		0	35	0	A	NM_152730		121412157	-1	tier1		no_errors	ENST00000275159	ensembl	human	putative	74_37	frame_shift_del	37.50	20	12	DEL	1.000	-	-	121412157	A	-	121412157	7	5	58	1	0	1	0	1	0	0	0	0	2351	130	5	0	285	0	C6orf170	6	121412157	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	2074144	121412157	49702910	832	15215											
TRDN	10345	genome.wustl.edu	37	chr6	123703273	123703273	+	Frame_Shift_Del	DEL	T	T	-																															tgtccagtaccttctgcaggTttttttgttttcttggaatc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:123703273delT	ENST00000398178.3	-	15	1176	c.1155delA	c.(1153-1155)aaafs	p.K385fs	TRDN_ENST00000334268.4_Frame_Shift_Del_p.K385fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	385					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTTCTGCAGGTTTTTTTGTTT	0.299																																																	0													24	22	22					6																	123703273		1685	3841	5526	SO:0001589	frameshift_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1155delA	6.37:g.123703273delT	ENSP00000381240:p.Lys385fs		A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	pfam_Asp-B-hydro/Triadin_dom	p.K385fs	ENST00000398178.3	37	c.1155	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.299	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding			0	12	0	T			123703273	-1	tier1		no_errors	ENST00000398178	ensembl	human	known	74_37	frame_shift_del	40.00	9	6	DEL	0.199	-	-	123703273	T	-	123703273	7	5	58	1	0	1	0	1	0	0	0	0	16516	1722	60	0	1142	0	TRDN	6	123703273	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	2291116	123703273	47411794	833	15216											
MED23	9439	genome.wustl.edu	37	chr6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-																															tcctatactcctcctccacaTtttttttcagattaaaacgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000479213.1_5'Flank	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																																	2	Insertion - Frameshift(2)	large_intestine(2)											154	151	152					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	pfam_Mediator_Med23	p.N765fs	ENST00000368068.3	37	c.2294	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1		0	30	0	T			131919846	-1	tier1		no_errors	ENST00000368058	ensembl	human	known	74_37	frame_shift_del	40.00	21	14	DEL	1.000	-	-	131919846	T	-	131919846	7	5	58	1	0	1	0	1	0	0	0	0	9479	1493	52	0	1881	0	MED23	6	131919846	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	8216573	131919846	39195221	834	15217											
ENPP3	5169	genome.wustl.edu	37	chr6	132043497	132043497	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttgtggctttgctaaTccattgcccacagagtctct	6	16	8	11	0	2	1	0	0	2	1	4	1	3	1	2	1	2	3	2	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:132043497T>C	ENST00000414305.1	+	19	2026	c.1698T>C	c.(1696-1698)aaT>aaC	p.N566N	ENPP3_ENST00000358229.5_Silent_p.N566N|ENPP3_ENST00000357639.3_Silent_p.N566N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	566					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTTTGCTAATCCATTGCCCA	0.428																																																	0													191	158	169					6																	132043497		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"CD molecules"	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1698T>C	6.37:g.132043497T>C			Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.N566	ENST00000414305.1	37	c.1698	CCDS5148.1	6																																																																																			ENPP3	-	NULL	ENSG00000154269		0.428	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	-	0	112	0	T			132043497	1	tier1	-	no_errors	ENST00000357639	ensembl	human	known	74_37	silent	8.24	78	7	SNP	0.051	C	C	132043497	T	C	132043497	2	2	58	1	0	0	0	0	0	0	0	1	5147	1432	50	4		4	ENPP3	6	132043497	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	123651	132043497	39071570	835	15218											
MOXD1	26002	genome.wustl.edu	37	chr6	132722421	132722421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacctggaggcggaaggCgatctggctgccccgctggc	5	5	17	14	4	1	0	0	0	1	0	1	3	1	2	3	6	1	3	3	6	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:132722421C>T	ENST00000367963.3	-	1	263	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	MOXD1_ENST00000392401.3_Missense_Mutation_p.A49T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	49	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGGCGGAAGGCGATCTGGCTG	0.731																																																	0													13	11	11					6																	132722421		2095	4118	6213	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.145G>A	6.37:g.132722421C>T	ENSP00000356940:p.Ala49Thr		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.A49T	ENST00000367963.3	37	c.145	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	6.409	0.443587	0.12164	.	.	ENSG00000079931	ENST00000367963;ENST00000392401	T;T	0.76060	-0.99;-0.99	4.35	4.35	0.52113	DOMON domain (3);	0.157023	0.45867	D	0.000330	T	0.25457	0.0619	N	0.02202	-0.64	0.38091	D	0.936978	B	0.10296	0.003	B	0.06405	0.002	T	0.26189	-1.0110	10	0.07482	T	0.82	-16.7042	10.8606	0.46825	0.0:0.9115:0.0:0.0885	.	49	Q6UVY6	MOXD1_HUMAN	T	49	ENSP00000356940:A49T;ENSP00000376202:A49T	ENSP00000356940:A49T	A	-	1	0	MOXD1	132764114	0.877000	0.30153	0.996000	0.52242	0.550000	0.35303	1.138000	0.31491	2.105000	0.64084	0.561000	0.74099	GCC	MOXD1	-	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain	ENSG00000079931		0.731	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	-	0	10	0	C	NM_015529		132722421	-1	tier1	-	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	61.54	5	8	SNP	0.979	T	T	132722421	C	T	132722421	3	4	58	1	0	0	0	0	1	0	0	0	9758	768	27	1	1744	1	MOXD1	6	132722421	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	678924	132722421	38392646	836	15219											
MAP3K5	4217	genome.wustl.edu	37	chr6	136972139	136972139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgtcatcaggaagcaCgtgccaaatagagattgtct	12	11	9	9	1	3	1	2	0	1	1	3	3	3	2	2	1	3	1	2	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:136972139C>T	ENST00000359015.4	-	11	2131	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	MAP3K5_ENST00000355845.4_De_novo_Start_OutOfFrame	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	591					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGGAAGCACGTGCCAAATA	0.348																																																	0													141	117	125					6																	136972139		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1771G>A	6.37:g.136972139C>T	ENSP00000351908:p.Val591Met		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V591M	ENST00000359015.4	37	c.1771	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408446	0.83340	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72505	-0.66	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.968;0.992	D	0.86624	0.1881	10	0.72032	D	0.01	.	18.0995	0.89501	0.0:1.0:0.0:0.0	.	671;591	Q59GL6;Q99683	.;M3K5_HUMAN	M	591;671	ENSP00000351908:V591M	ENSP00000351908:V591M	V	-	1	0	MAP3K5	137013832	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	7.228000	0.78079	2.329000	0.79093	0.650000	0.86243	GTG	MAP3K5	-	NULL	ENSG00000197442		0.348	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	69	0	C			136972139	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	38.10	26	16	SNP	1.000	T	T	136972139	C	T	136972139	3	4	58	1	0	0	0	0	1	0	0	0	9291	536	19	1	2433	1	MAP3K5	6	136972139	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4249718	136972139	34142928	837	15220											
MAP3K5	4217	genome.wustl.edu	37	chr6	137018373	137018373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacctggatatctctgtagGaaagtaacagatttatgaca	14	12	8	7	0	2	2	1	1	1	1	3	4	2	4	1	2	1	2	1	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:137018373G>T	ENST00000359015.4	-	5	1319	c.959C>A	c.(958-960)tCc>tAc	p.S320Y		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	320					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.S320Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATCTCTGTAGGAAAGTAACAG	0.388																																																	1	Substitution - Missense(1)	skin(1)											82	86	85					6																	137018373		2202	4300	6502	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.959C>A	6.37:g.137018373G>T	ENSP00000351908:p.Ser320Tyr		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S320Y	ENST00000359015.4	37	c.959	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534545	0.85812	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.20463	2.07	5.53	5.53	0.82687	.	0.109580	0.64402	D	0.000005	T	0.46541	0.1398	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.80764	0.994;0.964;0.929	T	0.50541	-0.8816	10	0.87932	D	0	.	19.8086	0.96539	0.0:0.0:1.0:0.0	.	400;165;320	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	Y	320;400	ENSP00000351908:S320Y	ENSP00000351908:S320Y	S	-	2	0	MAP3K5	137060066	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.420000	0.97426	2.759000	0.94783	0.591000	0.81541	TCC	MAP3K5	-	NULL	ENSG00000197442		0.388	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1		0	25	0	G			137018373	-1			no_errors	ENST00000359015	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	T	T	137018373	G	T	137018373	3	4	58	1	0	0	0	0	1	0	0	0	9291	1174	41	3	3269	3	MAP3K5	6	137018373	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	46234	137018373	34096694	838	15221											
MAP3K5	4217	genome.wustl.edu	37	chr6	137019800	137019800	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatcatgtaaggaacaaaGgtgtagttcccagtgcacat	13	11	10	7	0	1	0	1	0	0	0	2	1	2	1	1	2	2	5	1	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:137019800G>T	ENST00000359015.4	-	4	993	c.633C>A	c.(631-633)acC>acA	p.T211T		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	211					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAGGAACAAAGGTGTAGTTCC	0.517																																																	0													114	101	105					6																	137019800		2203	4300	6503	SO:0001819	synonymous_variant	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.633C>A	6.37:g.137019800G>T			A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T211	ENST00000359015.4	37	c.633	CCDS5179.1	6																																																																																			MAP3K5	-	NULL	ENSG00000197442		0.517	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	37	0	G			137019800	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.750	T	T	137019800	G	T	137019800	2	4	58	1	0	0	0	0	0	0	0	1	9291	987	35	3		3	MAP3K5	6	137019800	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1427	137019800	34095267	839	15222											
MAP3K5	4217	genome.wustl.edu	37	chr6	137113057	137113057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccaacagagctgcccCggcctcgggtggcactgctc	5	5	12	19	3	0	1	0	0	0	1	2	1	0	1	6	3	4	3	6	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:137113057C>T	ENST00000359015.4	-	1	599	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	80					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGAGCTGCCCCGGCCTCGGGT	0.711																																																	0													20	23	22					6																	137113057		2202	4288	6490	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.239G>A	6.37:g.137113057C>T	ENSP00000351908:p.Arg80Gln		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R80Q	ENST00000359015.4	37	c.239	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931383	0.34096	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.69175	-0.38	4.67	3.8	0.43715	.	0.457306	0.20459	N	0.091924	T	0.30665	0.0772	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12477	-1.0546	10	0.25106	T	0.35	.	9.0404	0.36314	0.0:0.7197:0.194:0.0862	.	80	Q99683	M3K5_HUMAN	Q	80;160	ENSP00000351908:R80Q	ENSP00000351908:R80Q	R	-	2	0	MAP3K5	137154750	0.969000	0.33509	1.000000	0.80357	0.489000	0.33432	3.692000	0.54727	1.070000	0.40811	-0.218000	0.12543	CGG	MAP3K5	-	NULL	ENSG00000197442		0.711	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	63	0	C			137113057	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	43.33	33	26	SNP	0.986	T	T	137113057	C	T	137113057	3	4	58	1	0	0	0	0	1	0	0	0	9291	652	23	1	4005	1	MAP3K5	6	137113057	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	93257	137113057	34002010	840	15223											
TNFAIP3	7128	genome.wustl.edu	37	chr6	138202351	138202351	+	Frame_Shift_Del	DEL	C	C	-																															ggtgagcctgcccccgaagaCccccccaagcagcgttgccg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:138202351delC	ENST00000237289.4	+	9	2334	c.2268delC	c.(2266-2268)gacfs	p.D756fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	756	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCCCCGAAGACCCCCCCAAGC	0.622			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											48	57	54					6																	138202351		2203	4300	6503	SO:0001589	frameshift_variant	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2268delC	6.37:g.138202351delC	ENSP00000237289:p.Asp756fs		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.K759fs	ENST00000237289.4	37	c.2268	CCDS5187.1	6																																																																																			TNFAIP3	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000118503		0.622	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1		0	60	0	C			138202351	1	tier1		no_errors	ENST00000237289	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	0.609	-	-	138202351	C	-	138202351	7	5	58	1	0	1	0	1	0	0	0	0	16321	506	18	0	2298	0	TNFAIP3	6	138202351	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1089294	138202351	32912716	841	15224											
KIAA1244	57221	genome.wustl.edu	37	chr6	138655275	138655275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcagatacatctctatGcagaacttggcagtcatatt	11	14	6	10	0	3	2	2	0	1	2	5	2	4	2	1	1	3	2	1	1	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:138655275G>A	ENST00000251691.4	+	33	5458	c.5292G>A	c.(5290-5292)atG>atA	p.M1764I		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACATCTCTATGCAGAACTTGG	0.512																																																	0													41	44	43					6																	138655275		2203	4300	6503	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5292G>A	6.37:g.138655275G>A	ENSP00000251691:p.Met1764Ile			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.M1764I	ENST00000251691.4	37	c.5292	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285183	0.40394	.	.	ENSG00000112379	ENST00000251691	T	0.17691	2.26	5.02	5.02	0.67125	.	0.232949	0.51477	D	0.000095	T	0.17238	0.0414	N	0.22421	0.69	0.58432	D	0.999997	D	0.54964	0.969	D	0.63381	0.914	T	0.06320	-1.0833	10	0.30078	T	0.28	-27.5848	18.3435	0.90313	0.0:0.0:1.0:0.0	.	1764	Q5TH69	BIG3_HUMAN	I	1764	ENSP00000251691:M1764I	ENSP00000251691:M1764I	M	+	3	0	KIAA1244	138696968	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.787000	0.99055	2.341000	0.79615	0.411000	0.27672	ATG	KIAA1244	-	NULL	ENSG00000112379		0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0	26	0	G	NM_020340		138655275	1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	A	A	138655275	G	A	138655275	3	1	58	1	0	0	0	0	1	0	0	0	8244	1319	46	3	5422	3	KIAA1244	6	138655275	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	452924	138655275	32459792	842	15225											
ECT2L	345930	genome.wustl.edu	37	chr6	139165650	139165650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcccagactgtaagggagCgagtgggattacatgaagct	11	9	13	8	1	1	2	0	1	1	1	2	5	1	4	1	2	3	2	1	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:139165650C>T	ENST00000423192.1	+	6	858	c.697C>T	c.(697-699)Cga>Tga	p.R233*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.R164*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.R233*			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	233							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGTAAGGGAGCGAGTGGGATT	0.493			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													84	84	84					6																	139165650		1916	4134	6050	SO:0001587	stop_gained	0				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.697C>T	6.37:g.139165650C>T	ENSP00000387388:p.Arg233*		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain	p.R233*	ENST00000423192.1	37	c.697	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225729	0.79576	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	.	.	.	5.73	1.6	0.23607	.	11.331800	0.02381	U	0.078839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.8498	2.6139	0.04899	0.1396:0.486:0.2159:0.1585	.	.	.	.	X	233;233;164	.	ENSP00000356655:R233X	R	+	1	2	ECT2L	139207343	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	0.476000	0.22180	0.213000	0.20722	0.650000	0.86243	CGA	ECT2L	-	NULL	ENSG00000203734		0.493	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	-	0	46	0	C	NM_001077706		139165650	1	tier1	-	no_errors	ENST00000367682	ensembl	human	known	74_37	nonsense	10.00	45	5	SNP	0.000	T	T	139165650	C	T	139165650	4	4	58	1	0	0	0	0	0	1	0	0	4916	760	27	1	715	1	ECT2L	6	139165650	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	510375	139165650	31949417	843	15226											
PLAGL1	5325	genome.wustl.edu	37	chr6	144263029	144263029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaagtggggagtatgaGgtagaagtggtgttgtactt	9	13	16	3	0	0	2	0	1	0	1	0	3	0	3	0	4	2	5	0	4	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:144263029G>A	ENST00000360537.2	-	5	2837	c.924C>T	c.(922-924)acC>acT	p.T308T	PLAGL1_ENST00000392307.1_Silent_p.T256T|PLAGL1_ENST00000416623.1_Silent_p.T308T|PLAGL1_ENST00000392309.1_Silent_p.T308T|PLAGL1_ENST00000354765.2_Silent_p.T308T|PLAGL1_ENST00000429150.1_Silent_p.T308T|PLAGL1_ENST00000367571.1_Silent_p.T308T|PLAGL1_ENST00000367572.1_Silent_p.T256T|PLAGL1_ENST00000437412.1_Silent_p.T256T|PLAGL1_ENST00000444202.1_Silent_p.T308T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	308					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGGAGTATGAGGTAGAAGTGG	0.552											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91	93	92					6																	144263029		2203	4300	6503	SO:0001819	synonymous_variant	0			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"Zinc fingers, C2H2-type"	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.924C>T	6.37:g.144263029G>A		1685	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T308	ENST00000360537.2	37	c.924	CCDS5202.1	6																																																																																			PLAGL1	-	NULL	ENSG00000118495		0.552	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL1	HGNC	protein_coding	OTTHUMT00000042541.1	-	0	26	0	G			144263029	-1	tier1	-	no_errors	ENST00000354765	ensembl	human	known	74_37	silent	44.44	10	8	SNP	1.000	A	A	144263029	G	A	144263029	2	1	58	1	0	0	0	0	0	0	0	1	12058	987	35	3		3	PLAGL1	6	144263029	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5097379	144263029	26852038	844	15227											
GRM1	2911	genome.wustl.edu	37	chr6	146351349	146351349	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctctgcagtccacacGgaaggtaggcattatatttg	10	13	10	8	1	1	0	0	0	1	0	3	1	2	1	1	3	1	3	1	3	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:146351349G>A	ENST00000282753.1	+	1	931	c.696G>A	c.(694-696)acG>acA	p.T232T	GRM1_ENST00000361719.2_Silent_p.T232T|GRM1_ENST00000492807.2_Silent_p.T232T|GRM1_ENST00000507907.1_Silent_p.T232T|GRM1_ENST00000392299.2_Silent_p.T232T|GRM1_ENST00000355289.4_Silent_p.T232T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	232					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGTCCACACGGAAGGTAGGC	0.453																																																	0													49	50	50					6																	146351349		2202	4300	6502	SO:0001819	synonymous_variant	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.696G>A	6.37:g.146351349G>A			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.T232	ENST00000282753.1	37	c.696	CCDS5209.1	6																																																																																			GRM1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000152822		0.453	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	28	0	G	NM_000838		146351349	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	silent	64.00	9	16	SNP	0.019	A	A	146351349	G	A	146351349	2	1	58	1	0	0	0	0	0	0	0	1	6823	1103	39	1		1	GRM1	6	146351349	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2088320	146351349	24763718	845	15228											
PPIL4	85313	genome.wustl.edu	37	chr6	149833366	149833366	+	Frame_Shift_Del	DEL	T	T	-																															tgatgggttttcttcttgtgTtttttacttgtgtgtgagtg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:149833366delT	ENST00000253329.2	-	12	1184	c.1152delA	c.(1150-1152)aaafs	p.K384fs	PPIL4_ENST00000340881.2_Frame_Shift_Del_p.N17fs	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	384	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCTTCTTGTGTTTTTTACTTG	0.363																																																	0													242	226	232					6																	149833366		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1152delA	6.37:g.149833366delT	ENSP00000253329:p.Lys384fs		B2RD34|Q7Z3Q5	Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K384fs	ENST00000253329.2	37	c.1152	CCDS34550.1	6																																																																																			PPIL4	-	NULL	ENSG00000131013		0.363	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1		0	122	0	T			149833366	-1	tier1		no_errors	ENST00000253329	ensembl	human	known	74_37	frame_shift_del	28.19	107	42	DEL	0.998	-	-	149833366	T	-	149833366	7	5	58	1	0	1	0	1	0	0	0	0	12371	1722	60	0	334	0	PPIL4	6	149833366	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3482017	149833366	21281701	846	15229											
LATS1	9113	genome.wustl.edu	37	chr6	149983001	149983001	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatatgggtagccattgTcatcaaaaaaccttcggaag	15	11	8	7	1	2	0	2	0	0	0	3	1	2	1	2	2	2	1	2	2	8	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:149983001T>A	ENST00000543571.1	-	8	3804	c.3257A>T	c.(3256-3258)gAc>gTc	p.D1086V	LATS1_ENST00000253339.5_Missense_Mutation_p.D1086V	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTAGCCATTGTCATCAAAAAA	0.373																																																	0													121	119	120					6																	149983001		2203	4300	6503	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3257A>T	6.37:g.149983001T>A	ENSP00000437550:p.Asp1086Val			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.D1086V	ENST00000543571.1	37	c.3257	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389018	0.61956	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.58652	0.32;0.32	5.79	5.79	0.91817	AGC-kinase, C-terminal (1);	0.000000	0.56097	D	0.000034	T	0.52419	0.1733	M	0.66939	2.045	0.80722	D	1	P	0.36909	0.573	B	0.43536	0.423	T	0.54483	-0.8287	9	.	.	.	.	16.1377	0.81497	0.0:0.0:0.0:1.0	.	1086	O95835	LATS1_HUMAN	V	1086	ENSP00000437550:D1086V;ENSP00000253339:D1086V	.	D	-	2	0	LATS1	150024694	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.917000	0.69989	2.217000	0.71921	0.482000	0.46254	GAC	LATS1	-	NULL	ENSG00000131023		0.373	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	-	0	108	0	T	NM_004690		149983001	-1	tier1	-	no_errors	ENST00000253339	ensembl	human	known	74_37	missense	35.00	78	42	SNP	1.000	A	A	149983001	T	A	149983001	3	1	58	1	0	0	0	0	1	0	0	0	8674	1667	58	5	139	5	LATS1	6	149983001	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	149635	149983001	21132066	847	15230											
MTHFD1L	25902	genome.wustl.edu	37	chr6	151331085	151331085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgaagatgcatggaggCgggccaagtgtaagtgccca	10	7	15	9	1	1	2	0	1	1	1	1	3	1	3	2	3	2	3	2	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:151331085C>T	ENST00000367321.3	+	21	2530	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	752	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCATGGAGGCGGGCCAAGTG	0.458																																																	0													79	76	77					6																	151331085		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2256C>T	6.37:g.151331085C>T			Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.G752	ENST00000367321.3	37	c.2256	CCDS5228.1	6																																																																																			MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.458	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	-	0	18	0	C	NM_015440		151331085	1	tier1	-	no_errors	ENST00000367321	ensembl	human	known	74_37	silent	61.90	8	13	SNP	0.093	T	T	151331085	C	T	151331085	2	4	58	1	0	0	0	0	0	0	0	1	9966	755	27	1		1	MTHFD1L	6	151331085	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1348084	151331085	19783982	848	15231											
SYNE1	23345	genome.wustl.edu	37	chr6	152711425	152711425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgtacctttgagcgtGgacggaggagctcatgatgt	7	12	15	7	2	2	2	1	2	1	0	2	5	2	5	1	4	3	3	1	4	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:152711425G>T	ENST00000367255.5	-	53	8768	c.8167C>A	c.(8167-8169)Cac>Aac	p.H2723N	SYNE1_ENST00000448038.1_Missense_Mutation_p.H2730N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2762N|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2730N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2723N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2723					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGAGCGTGGACGGAGGAG	0.453										HNSCC(10;0.0054)																																							0													152	126	135					6																	152711425		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8167C>A	6.37:g.152711425G>T	ENSP00000356224:p.His2723Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H2723N	ENST00000367255.5	37	c.8167	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049991	0.36181	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	6.17	5.19	0.71726	.	0.636516	0.14988	N	0.286860	T	0.06690	0.0171	L	0.31294	0.92	0.21604	N	0.999623	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.11329	0.0;0.001;0.001;0.006	T	0.35051	-0.9804	10	0.07644	T	0.81	.	8.2853	0.31924	0.098:0.0:0.7207:0.1812	.	2706;2723;2723;2730	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2723;2730;2723;2730;2762	ENSP00000356224:H2723N;ENSP00000396024:H2730N;ENSP00000265368:H2723N;ENSP00000390975:H2730N;ENSP00000341887:H2762N	ENSP00000265368:H2723N	H	-	1	0	SYNE1	152753118	0.875000	0.30112	0.002000	0.10522	0.670000	0.39368	2.821000	0.48065	1.368000	0.46115	0.655000	0.94253	CAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	103	0	G	NM_182961		152711425	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.43	122	7	SNP	0.003	T	T	152711425	G	T	152711425	3	4	58	1	0	0	0	0	1	0	0	0	15492	1348	47	3	18675	3	SYNE1	6	152711425	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1380340	152711425	18403642	849	15232											
MTRF1L	54516	genome.wustl.edu	37	chr6	153311100	153311100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaatgactgtacaagtTcatccagtagataatctcct	12	13	5	11	0	3	2	2	1	1	1	5	2	4	2	3	0	1	3	3	0	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:153311100T>C	ENST00000367233.5	-	7	1072	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000464135.1_5'UTR|RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000367230.1_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	358						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CTGTACAAGTTCATCCAGTAG	0.333																																																	0													81	84	83					6																	153311100		2203	4300	6503	SO:0001583	missense	0			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.1073A>G	6.37:g.153311100T>C	ENSP00000356202:p.Glu358Gly		B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.E358G	ENST00000367233.5	37	c.1073	CCDS5243.1	6	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541217	0.85917	.	.	ENSG00000112031	ENST00000367233;ENST00000414771	T;T	0.12039	2.72;2.72	5.78	5.78	0.91487	.	0.257411	0.43919	D	0.000507	T	0.14570	0.0352	L	0.34521	1.04	0.80722	D	1	D;D	0.63880	0.993;0.974	P;P	0.56343	0.796;0.548	T	0.01202	-1.1420	10	0.87932	D	0	-19.5534	16.1261	0.81397	0.0:0.0:0.0:1.0	.	322;358	B4DMX1;Q9UGC7	.;RF1ML_HUMAN	G	358;209	ENSP00000356202:E358G;ENSP00000414383:E209G	ENSP00000356202:E358G	E	-	2	0	MTRF1L	153352793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.206000	0.71126	0.533000	0.62120	GAA	MTRF1L	-	NULL	ENSG00000112031		0.333	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1L	HGNC	protein_coding	OTTHUMT00000042764.1	-	0	66	0	T	NM_019041		153311100	-1	tier1	-	no_errors	ENST00000367233	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	C	C	153311100	T	C	153311100	3	2	58	1	0	0	0	0	1	0	0	0	9998	1783	62	4	73	4	MTRF1L	6	153311100	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	599675	153311100	17803967	850	15233											
ZDHHC14	79683	genome.wustl.edu	37	chr6	157963736	157963736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccccggagtcctcccacGagccacgcctgatgaagccg	8	4	11	18	5	0	2	0	2	0	0	2	5	2	3	7	1	2	0	7	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:157963736G>A	ENST00000359775.5	+	2	1254	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.R122Q			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	122					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTCCTCCCACGAGCCACGCCT	0.597																																																	0													27	29	28					6																	157963736		2203	4296	6499	SO:0001583	missense	0			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"Zinc fingers, DHHC-type"	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.365G>A	6.37:g.157963736G>A	ENSP00000352821:p.Arg122Gln		A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R122Q	ENST00000359775.5	37	c.365	CCDS5252.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.499355	0.96355	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.25912	1.77;1.77	4.89	4.89	0.63831	.	0.138279	0.47455	D	0.000238	T	0.52354	0.1729	M	0.91663	3.23	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	T	0.66329	-0.5951	10	0.87932	D	0	-5.6986	18.4042	0.90528	0.0:0.0:1.0:0.0	.	126;122;122	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	Q	122;122;126	ENSP00000352821:R122Q;ENSP00000410713:R122Q	ENSP00000352821:R122Q	R	+	2	0	ZDHHC14	157883724	1.000000	0.71417	0.951000	0.38953	0.918000	0.54935	9.235000	0.95353	0.011000	0.14865	-0.274000	0.10170	CGA	ZDHHC14	-	NULL	ENSG00000175048		0.597	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC14	HGNC	protein_coding	OTTHUMT00000042841.2	-	0	32	0	G	NM_153746		157963736	1	tier1	-	no_errors	ENST00000359775	ensembl	human	known	74_37	missense	38.10	26	16	SNP	0.992	A	A	157963736	G	A	157963736	3	1	58	1	0	0	0	0	1	0	0	0	17652	1058	37	1	371	1	ZDHHC14	6	157963736	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4652636	157963736	13151331	851	15234											
FNDC1	84624	genome.wustl.edu	37	chr6	159653240	159653241	+	Frame_Shift_Del	DEL	CT	CT	-																															cccaagaccagaaacggaccCtgaggccgccaagtagacac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:159653240_159653241delCT	ENST00000297267.9	+	11	1896_1897	c.1696_1697delCT	c.(1696-1698)ctgfs	p.L566fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.L503fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	566					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAACGGACCCTGAGGCCGCCA	0.634																																																	0																																										SO:0001589	frameshift_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1696_1697delCT	6.37:g.159653240_159653241delCT	ENSP00000297267:p.Leu566fs		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L566fs	ENST00000297267.9	37	c.1696_1697	CCDS47512.1	6																																																																																			FNDC1	-	NULL	ENSG00000164694		0.634	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0	45	0	CT	NM_032532		159653241	1	tier1		no_errors	ENST00000297267	ensembl	human	known	74_37	frame_shift_del	41.94	18	13	DEL	0.000:0.067	-	-	159653241	CT	-	159653240	7	5	58	1	0	1	0	1	0	0	0	0	5990	680	24	0	1738	0	FNDC1	6	159653240	Frame_Shift_Del	DEL	CT	TCGA-L5-A4OI-01A-11D-A27G-09	1689504	159653240	11461827	852	15235											
IGF2R	3482	genome.wustl.edu	37	chr6	160496984	160496984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcggacaagcatttcaacTacacctcgctcatcgcgttt	10	11	7	13	4	2	0	2	0	0	0	4	1	2	1	1	1	4	3	1	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:160496984T>C	ENST00000356956.1	+	36	5420	c.5272T>C	c.(5272-5274)Tac>Cac	p.Y1758H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1758					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCATTTCAACTACACCTCGCT	0.488																																																	0													188	168	175					6																	160496984		2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5272T>C	6.37:g.160496984T>C	ENSP00000349437:p.Tyr1758His		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.Y1758H	ENST00000356956.1	37	c.5272	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594367	0.86953	.	.	ENSG00000197081	ENST00000356956	T	0.12039	2.72	5.31	5.31	0.75309	Mannose-6-phosphate receptor, binding (1);	0.138466	0.50627	D	0.000103	T	0.30823	0.0777	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07158	-1.0787	10	0.35671	T	0.21	-19.1058	15.5638	0.76273	0.0:0.0:0.0:1.0	.	1758	P11717	MPRI_HUMAN	H	1758	ENSP00000349437:Y1758H	ENSP00000349437:Y1758H	Y	+	1	0	IGF2R	160416974	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.092000	0.76930	2.132000	0.65825	0.533000	0.62120	TAC	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.488	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	143	0	T	NM_000876		160496984	1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	30.58	84	37	SNP	1.000	C	C	160496984	T	C	160496984	3	2	58	1	0	0	0	0	1	0	0	0	7603	1522	53	4	5414	4	IGF2R	6	160496984	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	843744	160496984	10618083	853	15236											
TCP10	6953	genome.wustl.edu	37	chr6	167794617	167794617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctttggtaccagagtgtGtgattctcgccccgcgtgtg	4	12	13	12	4	1	2	0	1	1	1	2	2	1	2	4	1	1	1	4	1	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:167794617G>A	ENST00000397829.4	-	3	438	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	TCP10_ENST00000476779.2_Missense_Mutation_p.H91Y|TCP10_ENST00000366827.2_Missense_Mutation_p.H91Y	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	118						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		ACCAGAGTGTGTGATTCTCGC	0.572																																																	0													17	20	19					6																	167794617		2001	4119	6120	SO:0001583	missense	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"t-complex 10 (a murine tcp homolog)", "t-complex 10 (mouse)", "t-complex 10 homolog (mouse)"			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.271C>T	6.37:g.167794617G>A	ENSP00000380929:p.His91Tyr		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.H91Y	ENST00000397829.4	37	c.271	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802600	0.31869	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000476779;ENST00000485157	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	2.04	-1.63	0.08345	.	.	.	.	.	T	0.08403	0.0209	L	0.43152	1.355	0.09310	N	1	D;D	0.56968	0.978;0.978	P;P	0.53224	0.721;0.721	T	0.10222	-1.0639	9	0.62326	D	0.03	.	3.6306	0.08130	0.0:0.3725:0.4163:0.2112	.	118;118	Q12799;Q12799-2	TCP10_HUMAN;.	Y	91	ENSP00000355792:H91Y;ENSP00000380929:H91Y;ENSP00000427675:H91Y;ENSP00000423829:H91Y	ENSP00000355792:H91Y	H	-	1	0	TCP10	167714607	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.001000	0.13038	-0.424000	0.07382	0.306000	0.20318	CAC	TCP10	-	NULL	ENSG00000203690		0.572	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	-	0	33	0	G	NM_004610		167794617	-1	tier1	-	no_errors	ENST00000397829	ensembl	human	known	74_37	missense	36.84	24	14	SNP	0.000	A	A	167794617	G	A	167794617	3	1	58	1	0	0	0	0	1	0	0	0	15757	1377	48	3	733	3	TCP10	6	167794617	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7297633	167794617	3320450	854	15237											
DLL1	28514	genome.wustl.edu	37	chr6	170592659	170592659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttctgcagcctcagccGgacgcagaccaccacagcgg	8	5	12	16	3	2	1	1	0	1	1	2	2	2	2	4	2	5	3	4	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:170592659G>A	ENST00000366756.3	-	9	2041	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	570					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCCTCAGCCGGACGCAGACC	0.687																																																	0													39	39	39					6																	170592659		2203	4299	6502	SO:0001583	missense	0			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"delta (Drosophila)-like 1"				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1708C>T	6.37:g.170592659G>A	ENSP00000355718:p.Arg570Trp		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom	p.R570W	ENST00000366756.3	37	c.1708	CCDS5313.1	6	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981111	0.34942	.	.	ENSG00000198719	ENST00000366756	D	0.86865	-2.18	5.11	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.78637	2.42	0.54753	D	0.999989	D	0.89917	1.0	D	0.72625	0.978	D	0.91663	0.5344	10	0.87932	D	0	.	13.7297	0.62781	0.0:0.0:0.4655:0.5345	.	570	O00548	DLL1_HUMAN	W	570	ENSP00000355718:R570W	ENSP00000355718:R570W	R	-	1	2	DLL1	170434584	1.000000	0.71417	0.911000	0.35937	0.120000	0.20174	3.481000	0.53179	0.603000	0.29913	-0.182000	0.12963	CGG	DLL1	-	NULL	ENSG00000198719		0.687	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	-	0	64	0	G			170592659	-1	tier1	-	no_errors	ENST00000366756	ensembl	human	known	74_37	missense	35.00	26	14	SNP	0.993	A	A	170592659	G	A	170592659	3	1	58	1	0	0	0	0	1	0	0	0	4580	1115	39	1	475	1	DLL1	6	170592659	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2798042	170592659	522408	855	15238											
TBP	6908	genome.wustl.edu	37	chr6	170881319	170881319	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagcatttgaaaacatctAccctattctaaagggattca	15	12	6	8	0	3	2	1	2	2	0	3	3	3	3	1	1	3	1	1	1	7	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:170881319A>G	ENST00000392092.2	+	8	1265	c.986A>G	c.(985-987)tAc>tGc	p.Y329C	TBP_ENST00000540980.1_Missense_Mutation_p.Y309C|TBP_ENST00000230354.6_Missense_Mutation_p.Y329C	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	329					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		GAAAACATCTACCCTATTCTA	0.388																																																	0													114	107	109					6																	170881319		2203	4300	6503	SO:0001583	missense	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.986A>G	6.37:g.170881319A>G	ENSP00000375942:p.Tyr329Cys		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.Y329C	ENST00000392092.2	37	c.986	CCDS5315.1	6	.	.	.	.	.	.	.	.	.	.	A	19.63	3.862716	0.71949	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.95	5.95	0.96441	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85389	0.1124	9	0.87932	D	0	-6.3448	16.4237	0.83790	1.0:0.0:0.0:0.0	.	329	P20226	TBP_HUMAN	C	329;309;329;306	.	ENSP00000230354:Y329C	Y	+	2	0	TBP	170723244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.798000	0.91888	2.279000	0.76181	0.533000	0.62120	TAC	TBP	-	pfam_TBP	ENSG00000112592		0.388	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0	16	0	A	NM_003194		170881319	1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	G	G	170881319	A	G	170881319	3	3	58	1	0	0	0	0	1	0	0	0	15691	391	14	4	1012	4	TBP	6	170881319	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	288660	170881319	233748	856	15239											
MICALL2	79778	genome.wustl.edu	37	chr7	1484824	1484824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggaagccctggcaggCgagttgcccgcagcaggctc	8	4	16	13	3	0	0	0	0	0	0	1	3	0	2	2	5	4	5	2	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:1484824C>T	ENST00000297508.7	-	6	1057	c.882G>A	c.(880-882)tcG>tcA	p.S294S	MICALL2_ENST00000405088.4_Silent_p.S82S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	294	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCCTGGCAGGCGAGTTGCCCG	0.687																																																	0													14	17	16					7																	1484824		2159	4266	6425	SO:0001819	synonymous_variant	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"junctional Rab13-binding protein"					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.882G>A	7.37:g.1484824C>T			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S294	ENST00000297508.7	37	c.882	CCDS5324.1	7																																																																																			MICALL2	-	NULL	ENSG00000164877		0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	-	0	85	0	C	NM_182924		1484824	-1	tier1	-	no_errors	ENST00000297508	ensembl	human	known	74_37	silent	36.73	31	18	SNP	0.000	T	T	1484824	C	T	1484824	2	4	58	1	0	0	0	0	0	0	0	1	9612	755	27	1		1	MICALL2	7	1484824	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09		1484824	157653839	857	15240											
INTS1	26173	genome.wustl.edu	37	chr7	1534466	1534466	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcacttgcggtcactctcGggtggccagttgtcccactt	5	12	10	14	2	3	0	2	0	1	0	5	0	4	0	2	3	1	1	2	3	0	3	rs560182626		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:1534466G>T	ENST00000404767.3	-	14	1981	c.1896C>A	c.(1894-1896)ccC>ccA	p.P632P	INTS1_ENST00000389470.4_Silent_p.P760P	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	632					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGTCACTCTCGGGTGGCCAGT	0.677																																																	0													60	62	61					7																	1534466		2070	4192	6262	SO:0001819	synonymous_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1896C>A	7.37:g.1534466G>T			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.P760	ENST00000404767.3	37	c.2280	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0	52	0	G			1534466	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.008	T	T	1534466	G	T	1534466	2	4	58	1	0	0	0	0	0	0	0	1	7802	1103	39	2		2	INTS1	7	1534466	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	49642	1534466	157604197	858	15241											
MAFK	7975	genome.wustl.edu	37	chr7	1579726	1579726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcacactcaagaaccgCggctacgcggccagctgccg	8	3	13	17	7	1	1	1	0	0	1	1	1	1	1	3	3	4	3	3	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:1579726C>T	ENST00000343242.4	+	3	415	c.186C>T	c.(184-186)cgC>cgT	p.R62R		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	62	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood coagulation (GO:0007596)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		TCAAGAACCGCGGCTACGCGG	0.677																																																	0													21	20	21					7																	1579726		2165	4272	6437	SO:0001819	synonymous_variant	0			AF059194	CCDS5325.1	7p22	2013-07-09	2013-07-09		ENSG00000198517	ENSG00000198517			6782	protein-coding gene	gene with protein product	"basic-leucine zipper transcription factor MafK", "erythroid transcription factor NF-E2 p18 subunit", "nuclear factor erythroid-2, ubiquitous (p18)"	600197				9763667	Standard	XM_005249851		Approved	P18, NFE2U	uc003skr.3	O60675	OTTHUMG00000151453	ENST00000343242.4:c.186C>T	7.37:g.1579726C>T			A4D214	Silent	SNP	pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R62	ENST00000343242.4	37	c.186	CCDS5325.1	7																																																																																			MAFK	-	pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000198517		0.677	MAFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFK	HGNC	protein_coding	OTTHUMT00000322712.1	-	0	85	0	C	NM_002360		1579726	1	tier1	-	no_errors	ENST00000343242	ensembl	human	known	74_37	silent	24.00	38	12	SNP	0.006	T	T	1579726	C	T	1579726	2	4	58	1	0	0	0	0	0	0	0	1	9197	755	27	1		1	MAFK	7	1579726	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	45260	1579726	157558937	859	15242											
FTSJ2	8379	genome.wustl.edu	37	chr7	2275111	2275111	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttctcgggtcagtcacGtcagcagggcacagaaaagt	11	7	14	9	2	4	1	3	0	1	1	5	2	4	1	0	3	1	3	0	3	2	1	rs373883494		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:2275111G>A	ENST00000406869.1	-	0	0				MAD1L1_ENST00000265854.7_5'Flank|MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000242257.8_Silent_p.D129D|MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000407040.1_Silent_p.D35D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GGTCAGTCACGTCAGCAGGGC	0.542																																																	0													79	76	77					7																	2275111		2203	4300	6503	SO:0001631	upstream_gene_variant	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275111G>A	Exception_encountered		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	p.D129	ENST00000406869.1	37	c.387	CCDS43539.1	7																																																																																			FTSJ2	-	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	ENSG00000122687		0.542	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FTSJ2	HGNC	protein_coding	OTTHUMT00000322871.1	-	0	38	0	G	NM_003550		2275111	-1	tier1	-	no_errors	ENST00000242257	ensembl	human	known	74_37	silent	34.29	23	12	SNP	1.000	A	A	2275111	G	A	2275111	1	1	58	0	1	0	0	0	0	0	0	0	6112	1136	40	1		1	FTSJ2	7	2275111	5'Flank	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	695385	2275111	156863552	860	15243											
CHST12	55501	genome.wustl.edu	37	chr7	2473033	2473033	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcgtgcgcctgatctcCgccttccgcagcaagttcga	5	10	9	17	5	1	1	0	1	1	0	5	2	2	1	5	0	2	3	5	0	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:2473033C>T	ENST00000258711.6	+	2	894	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	253					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTGATCTCCGCCTTCCGCA	0.627																																																	0													77	64	68					7																	2473033		2202	4298	6500	SO:0001819	synonymous_variant	0			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"Sulfotransferases, membrane-bound"	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.759C>T	7.37:g.2473033C>T			A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.S253	ENST00000258711.6	37	c.759	CCDS5333.1	7																																																																																			CHST12	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000136213		0.627	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	-	0	67	0	C	NM_018641		2473033	1	tier1	-	no_errors	ENST00000258711	ensembl	human	known	74_37	silent	48.08	27	25	SNP	0.076	T	T	2473033	C	T	2473033	2	4	58	1	0	0	0	0	0	0	0	1	3407	639	23	1		1	CHST12	7	2473033	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	197922	2473033	156665630	861	15244											
MIOS	54468	genome.wustl.edu	37	chr7	7612169	7612169	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatagatttgttgtgtgTgactcagaactaagtcttta	10	17	10	4	0	2	4	1	2	1	2	2	4	2	4	0	0	1	2	0	0	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:7612169T>C	ENST00000340080.4	+	4	484	c.63T>C	c.(61-63)tgT>tgC	p.C21C	MIOS_ENST00000405785.1_Silent_p.C21C	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	21						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGTGTGTGACTCAGAAC	0.403																																																	0													123	110	114					7																	7612169		1888	4119	6007	SO:0001819	synonymous_variant	0				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"WD repeat-containing protein mio"	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.63T>C	7.37:g.7612169T>C			B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	smart_WD40_repeat	p.C21	ENST00000340080.4	37	c.63	CCDS43554.1	7																																																																																			MIOS	-	NULL	ENSG00000164654		0.403	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	-	0	81	0	T	NM_019005		7612169	1	tier1	-	no_errors	ENST00000340080	ensembl	human	known	74_37	silent	37.97	49	30	SNP	1.000	C	C	7612169	T	C	7612169	2	2	58	1	0	0	0	0	0	0	0	1	9627	1702	59	4		4	MIOS	7	7612169	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	5139136	7612169	151526494	862	15245											
THSD7A	221981	genome.wustl.edu	37	chr7	11676257	11676257	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggctcaaagtactcAcagatgatatcctccgcagg	10	9	11	11	1	2	2	2	1	0	1	4	2	4	2	2	3	1	4	2	3	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:11676257A>G	ENST00000423059.4	-	2	773	c.522T>C	c.(520-522)tgT>tgC	p.C174C	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	174					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAAAGTACTCACAGATGATAT	0.498										HNSCC(18;0.044)																																							0													80	80	80					7																	11676257		2012	4191	6203	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.522T>C	7.37:g.11676257A>G				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C174	ENST00000423059.4	37	c.522	CCDS47543.1	7																																																																																			THSD7A	-	superfamily_Thrombospondin_1_rpt	ENSG00000005108		0.498	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	-	0	23	0	A	XM_928187.2		11676257	-1	tier1	-	no_errors	ENST00000423059	ensembl	human	known	74_37	silent	50.00	6	6	SNP	1.000	G	G	11676257	A	G	11676257	2	3	58	1	0	0	0	0	0	0	0	1	15926	157	6	4		4	THSD7A	7	11676257	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	4064088	11676257	147462406	863	15246											
SCIN	85477	genome.wustl.edu	37	chr7	12668733	12668733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattccttccagatttggcGtgtagaaaacaatggtagga	12	11	10	8	1	0	2	0	0	0	2	2	3	2	3	3	3	1	2	3	3	5	5	rs375869092	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:12668733G>A	ENST00000297029.5	+	9	1306	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	SCIN_ENST00000445618.2_Missense_Mutation_p.R155H|SCIN_ENST00000519209.1_Missense_Mutation_p.R155H|SCIN_ENST00000473722.1_3'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	402	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGATTTGGCGTGTAGAAAAC	0.338													G|||	3	0.000599042	8e-04	0	5008	,	,		16007	0.001		0	False		,,,				2504	0.001																0								G	HIS/ARG,HIS/ARG	0,3742		0,0,1871	115	107	110		1205,464	5.1	1	7		110	1,8203		0,1,4101	no	missense,missense	SCIN	NM_001112706.2,NM_033128.3	29,29	0,1,5972	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	402/716,155/469	12668733	1,11945	1871	4102	5973	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1205G>A	7.37:g.12668733G>A	ENSP00000297029:p.Arg402His		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.R402H	ENST00000297029.5	37	c.1205	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978075	0.92982	0.0	1.22E-4	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.15834	2.39;2.39;2.39	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68484	-0.5396	10	0.87932	D	0	-9.7602	18.8744	0.92328	0.0:0.0:1.0:0.0	.	402	Q9Y6U3	ADSV_HUMAN	H	402;155;155	ENSP00000297029:R402H;ENSP00000430997:R155H;ENSP00000390189:R155H	ENSP00000297029:R402H	R	+	2	0	SCIN	12635258	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.420000	0.97426	2.518000	0.84900	0.462000	0.41574	CGT	SCIN	-	smart_Villin/Gelsolin	ENSG00000006747		0.338	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	-	0	35	0	G	NM_033128		12668733	1	tier1	-	no_errors	ENST00000297029	ensembl	human	known	74_37	missense	42.11	33	24	SNP	1.000	A	A	12668733	G	A	12668733	3	1	58	1	0	0	0	0	1	0	0	0	13950	1145	40	1	1239	1	SCIN	7	12668733	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	992476	12668733	146469930	864	15247											
ANKMY2	57037	genome.wustl.edu	37	chr7	16640464	16640464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgctttcaagagattctttCtttccttccccggaatcttc	6	17	5	13	2	4	1	1	0	3	1	8	3	6	2	3	1	0	1	3	1	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:16640464C>T	ENST00000306999.2	-	10	1491	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	416						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.K416N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGATTCTTTCTTTCCTTCCC	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)											86	81	83					7																	16640464		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1248G>A	7.37:g.16640464C>T			A4D124|Q659G1|Q96BL3	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.K416	ENST00000306999.2	37	c.1248	CCDS5361.1	7																																																																																			ANKMY2	-	NULL	ENSG00000106524		0.463	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKMY2	HGNC	protein_coding	OTTHUMT00000207600.2		0	43	0	C	NM_020319		16640464	-1			no_errors	ENST00000306999	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.006	T	T	16640464	C	T	16640464	2	4	58	1	0	0	0	0	0	0	0	1	635	912	32	3		3	ANKMY2	7	16640464	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3971731	16640464	142498199	865	15248											
HDAC9	9734	genome.wustl.edu	37	chr7	18869172	18869172	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatattgattgtagatctgGtatgtattcctggccagagc	10	14	11	6	0	1	4	0	1	1	3	2	4	2	4	2	2	1	3	2	2	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:18869172G>T	ENST00000432645.2	+	18	2457		c.e18+1		HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.?(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTAGATCTGGTATGTATTCC	0.388																																																	2	Unknown(2)	lung(2)											76	74	74					7																	18869172		1848	4092	5940	SO:0001630	splice_region_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2457+1G>T	7.37:g.18869172G>T			A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	SNP	-	e18+1	ENST00000432645.2	37	c.2466+1	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501709	0.44455	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.31	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3011	0.37847	0.0762:0.1463:0.7775:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HDAC9	18835697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.697000	0.74603	2.634000	0.89283	0.650000	0.86243	.	HDAC9	-	-	ENSG00000048052		0.388	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0	27	0	G		Intron	18869172	1			no_errors	ENST00000441542	ensembl	human	known	74_37	splice_site	8.33	22	2	SNP	1.000	T	T	18869172	G	T	18869172	5	4	58	1	0	0	0	0	0	0	1	0	7041	1275	44	3	2588	3	HDAC9	7	18869172	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2228708	18869172	140269491	866	15249											
TWISTNB	221830	genome.wustl.edu	37	chr7	19739713	19739713	+	Frame_Shift_Del	DEL	C	C	-																															accttgtgatatttagttttCcccgaatgcagaatactcca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:19739713delC	ENST00000222567.5	-	3	657	c.587delG	c.(586-588)ggafs	p.G196fs		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	196					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATTTAGTTTTCCCCGAATGCA	0.318																																																	0													91	90	91					7																	19739713		2203	4300	6503	SO:0001589	frameshift_variant	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.587delG	7.37:g.19739713delC	ENSP00000222567:p.Gly196fs		A0PJ45|B7Z724	Frame_Shift_Del	DEL	pfam_RNA_pol_Rpb7_N	p.G196fs	ENST00000222567.5	37	c.587	CCDS34606.1	7																																																																																			TWISTNB	-	NULL	ENSG00000105849		0.318	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1		0	46	0	C			19739713	-1	tier1		no_errors	ENST00000222567	ensembl	human	known	74_37	frame_shift_del	36.36	42	24	DEL	1.000	-	-	19739713	C	-	19739713	7	5	58	1	0	1	0	1	0	0	0	0	16833	855	30	0	437	0	TWISTNB	7	19739713	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	870541	19739713	139398950	867	15250											
MACC1	346389	genome.wustl.edu	37	chr7	20199466	20199466	+	Frame_Shift_Del	DEL	T	T	-																															ttttataagcctcccgatcaTttttaagccactctaagtcg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:20199466delT	ENST00000400331.5	-	5	826	c.518delA	c.(517-519)aatfs	p.N173fs	MACC1_ENST00000589011.1_Frame_Shift_Del_p.N173fs|MACC1_ENST00000332878.4_Frame_Shift_Del_p.N173fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	173					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTCCCGATCATTTTTAAGCCA	0.468																																																	0													75	73	73					7																	20199466		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.518delA	7.37:g.20199466delT	ENSP00000383185:p.Asn173fs		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Frame_Shift_Del	DEL	pfam_SH3_2,superfamily_DEATH-like_dom	p.N173fs	ENST00000400331.5	37	c.518	CCDS5369.1	7																																																																																			MACC1	-	NULL	ENSG00000183742		0.468	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5		0	17	0	T	NM_182762		20199466	-1	tier1		no_errors	ENST00000332878	ensembl	human	known	74_37	frame_shift_del	34.78	15	8	DEL	1.000	-	-	20199466	T	-	20199466	7	5	58	1	0	1	0	1	0	0	0	0	9179	1493	52	0	2052	0	MACC1	7	20199466	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	459753	20199466	138939197	868	15251											
SP4	6671	genome.wustl.edu	37	chr7	21469787	21469787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaacgtctttgacaagcaGtgacacattagtgagctcag	12	11	9	9	1	3	3	2	3	1	0	3	3	3	3	0	0	3	2	0	0	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:21469787G>T	ENST00000222584.3	+	3	1222	c.1004G>T	c.(1003-1005)aGt>aTt	p.S335I		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	335					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TTGACAAGCAGTGACACATTA	0.498																																																	0													131	91	105					7																	21469787		2203	4300	6503	SO:0001583	missense	0				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1004G>T	7.37:g.21469787G>T	ENSP00000222584:p.Ser335Ile		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S335I	ENST00000222584.3	37	c.1004	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849894	0.51270	.	.	ENSG00000105866	ENST00000222584	T	0.09911	2.93	4.94	4.94	0.65067	.	0.144799	0.64402	D	0.000006	T	0.16642	0.0400	M	0.65498	2.005	0.51767	D	0.999933	D	0.54772	0.968	B	0.42062	0.374	T	0.03086	-1.1074	10	0.45353	T	0.12	.	18.3501	0.90336	0.0:0.0:1.0:0.0	.	335	Q02446	SP4_HUMAN	I	335	ENSP00000222584:S335I	ENSP00000222584:S335I	S	+	2	0	SP4	21436312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.043000	0.76572	2.559000	0.86315	0.655000	0.94253	AGT	SP4	-	NULL	ENSG00000105866		0.498	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	-	0	89	0	G	NM_003112		21469787	1	tier1	-	no_errors	ENST00000222584	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T	T	21469787	G	T	21469787	3	4	58	1	0	0	0	0	1	0	0	0	15011	1029	36	3	1014	3	SP4	7	21469787	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1270321	21469787	137668876	869	15252											
DNAH11	8701	genome.wustl.edu	37	chr7	21857862	21857862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgccattgaaactgctttGgcctttggtgatgtcatctt	8	16	9	8	0	2	2	1	2	1	0	2	2	2	2	2	2	3	1	2	2	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:21857862G>T	ENST00000409508.3	+	65	10627	c.10596G>T	c.(10594-10596)ttG>ttT	p.L3532F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L3539F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3539	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAACTGCTTTGGCCTTTGGTG	0.333									Kartagener syndrome																																								0													95	86	89					7																	21857862		1832	4080	5912	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10596G>T	7.37:g.21857862G>T	ENSP00000475939:p.Leu3532Phe		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3539F	ENST00000409508.3	37	c.10617		7	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508601	0.44660	.	.	ENSG00000105877	ENST00000328843	T	0.27256	1.68	5.48	4.61	0.57282	.	0.427890	0.23135	N	0.051530	T	0.24661	0.0598	.	.	.	0.37766	D	0.926507	B	0.12630	0.006	B	0.20384	0.029	T	0.09997	-1.0649	9	0.87932	D	0	.	12.3178	0.54966	0.1406:0.0:0.8594:0.0	.	3539	Q96DT5	DYH11_HUMAN	F	3539	ENSP00000330671:L3539F	ENSP00000330671:L3539F	L	+	3	2	DNAH11	21824387	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	0.762000	0.26503	1.334000	0.45468	0.644000	0.83932	TTG	DNAH11	-	NULL	ENSG00000105877		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	41	0	G	NM_003777		21857862	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	T	T	21857862	G	T	21857862	3	4	58	1	0	0	0	0	1	0	0	0	4613	1339	47	3	10876	3	DNAH11	7	21857862	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	388075	21857862	137280801	870	15253											
KLHL7	55975	genome.wustl.edu	37	chr7	23180534	23180534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taacacatcttctcaaccagGacactctgactgtgagagca	13	9	7	12	0	3	2	1	2	3	1	4	4	3	3	1	1	3	1	1	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:23180534G>T	ENST00000339077.5	+	5	832	c.589G>T	c.(589-591)Gac>Tac	p.D197Y	KLHL7_ENST00000545443.1_Missense_Mutation_p.D175Y|KLHL7_ENST00000409689.1_Missense_Mutation_p.D149Y|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.D121Y|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000322231.7_Missense_Mutation_p.D175Y	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	197	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTCAACCAGGACACTCTGAC	0.358																																																	0													115	109	111					7																	23180534		2203	4300	6503	SO:0001583	missense	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"Kelch-like", "BTB/POZ domain containing"	15646	protein-coding gene	gene with protein product	"retinitis pigmentosa 42"	611119	"kelch-like 7 (Drosophila)"			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.589G>T	7.37:g.23180534G>T	ENSP00000343273:p.Asp197Tyr		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D197Y	ENST00000339077.5	37	c.589	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650799	0.87958	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.39	5.39	0.77823	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.98	D	0.93446	0.6798	10	0.87932	D	0	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	197;175	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	Y	163;175;197;121;149;175	ENSP00000322958:D175Y;ENSP00000343273:D197Y;ENSP00000441136:D121Y;ENSP00000386263:D149Y;ENSP00000442366:D175Y	ENSP00000322958:D175Y	D	+	1	0	KLHL7	23147059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.683000	0.91414	0.591000	0.81541	GAC	KLHL7	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.358	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	-	0	42	0	G	NM_018846		23180534	1	tier1	-	no_errors	ENST00000339077	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	23180534	G	T	23180534	3	4	58	1	0	0	0	0	1	0	0	0	8421	1174	41	3	670	3	KLHL7	7	23180534	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1322672	23180534	135958129	871	15254											
NUPL2	11097	genome.wustl.edu	37	chr7	23224773	23224773	+	Frame_Shift_Del	DEL	G	G	-																															tttctccaaatccacaccatGggggggcagcagagatcaag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:23224773delG	ENST00000258742.5	+	2	465	c.206delG	c.(205-207)tggfs	p.W69fs	AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Frame_Shift_Del_p.W69fs|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCACACCATGGGGGGGCAGC	0.408																																																	0													85	87	86					7																	23224773		2203	4300	6503	SO:0001589	frameshift_variant	0			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"nucleoporin-like protein 1"					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.206delG	7.37:g.23224773delG	ENSP00000258742:p.Trp69fs		A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Del	DEL	smart_Znf_CCCH	p.G71fs	ENST00000258742.5	37	c.206	CCDS5379.1	7																																																																																			NUPL2	-	NULL	ENSG00000136243		0.408	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPL2	HGNC	protein_coding	OTTHUMT00000214017.2		0	56	0	G	NM_007342		23224773	1	tier1		no_errors	ENST00000258742	ensembl	human	known	74_37	frame_shift_del	19.35	25	6	DEL	1.000	-	-	23224773	G	-	23224773	7	5	58	1	0	1	0	1	0	0	0	0	10814	1357	47	0	212	0	NUPL2	7	23224773	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	44239	23224773	135913890	872	15255											
GPNMB	10457	genome.wustl.edu	37	chr7	23313743	23313743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatgtggtcagaagcaaagGcctgagtgtctttctcaacc	11	10	11	9	0	3	2	2	1	2	1	4	3	3	2	2	2	2	1	2	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:23313743G>T	ENST00000381990.2	+	11	1780	c.1619G>T	c.(1618-1620)gGc>gTc	p.G540V	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000258733.4_Missense_Mutation_p.G528V|GPNMB_ENST00000539136.1_Missense_Mutation_p.G429V|GPNMB_ENST00000453162.2_Missense_Mutation_p.G482V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	540					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AGAAGCAAAGGCCTGAGTGTC	0.393																																																	0													84	85	85					7																	23313743		2203	4300	6503	SO:0001583	missense	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1619G>T	7.37:g.23313743G>T	ENSP00000371420:p.Gly540Val		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.G540V	ENST00000381990.2	37	c.1619	CCDS34610.1	7	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354710	0.41700	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.17854	2.25;2.25;2.26;2.27	6.07	5.18	0.71444	.	0.387393	0.25272	N	0.031879	T	0.39064	0.1064	L	0.58101	1.795	0.51233	D	0.999911	D;D;D;D	0.76494	0.996;0.999;0.994;0.989	D;D;P;P	0.70227	0.925;0.968;0.856;0.79	T	0.19484	-1.0304	10	0.66056	D	0.02	-11.0704	16.3927	0.83545	0.0:0.0:0.867:0.133	.	429;482;540;528	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	V	528;575;540;423;429;482	ENSP00000258733:G528V;ENSP00000371420:G540V;ENSP00000445266:G429V;ENSP00000405586:G482V	ENSP00000258733:G528V	G	+	2	0	GPNMB	23280268	0.976000	0.34144	0.123000	0.21794	0.014000	0.08584	3.605000	0.54088	1.558000	0.49541	-0.181000	0.13052	GGC	GPNMB	-	NULL	ENSG00000136235		0.393	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1	-	0	58	0	G	NM_001005340		23313743	1	tier1	-	no_errors	ENST00000381990	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.348	T	T	23313743	G	T	23313743	3	4	58	1	0	0	0	0	1	0	0	0	6646	1203	42	3	1661	3	GPNMB	7	23313743	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	88970	23313743	135824920	873	15256											
NPY	4852	genome.wustl.edu	37	chr7	24324976	24324976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacaacccgggcgaggaCgcaccagcggaggacatggc	10	1	16	14	5	0	0	0	0	0	0	0	5	0	4	3	6	2	1	3	6	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:24324976C>T	ENST00000407573.1	+	3	407	c.117C>T	c.(115-117)gaC>gaT	p.D39D	NPY_ENST00000242152.2_Silent_p.D39D|NPY_ENST00000405982.1_Silent_p.D39D			P01303	NPY_HUMAN	neuropeptide Y	39					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.D39D(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGGGCGAGGACGCACCAGCGG	0.682																																																	1	Substitution - coding silent(1)	large_intestine(1)											83	63	70					7																	24324976		2203	4300	6503	SO:0001819	synonymous_variant	0			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"Endogenous ligands"	7955	protein-coding gene	gene with protein product	"prepro-neuropeptide Y"	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.117C>T	7.37:g.24324976C>T				Silent	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.D39	ENST00000407573.1	37	c.117	CCDS5387.1	7																																																																																			NPY	-	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	ENSG00000122585		0.682	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NPY	HGNC	protein_coding	OTTHUMT00000326748.1	-	0	37	0	C	NM_000905		24324976	1	tier1	-	no_errors	ENST00000242152	ensembl	human	known	74_37	silent	50.00	19	19	SNP	1.000	T	T	24324976	C	T	24324976	2	4	58	1	0	0	0	0	0	0	0	1	10646	535	19	1		1	NPY	7	24324976	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1011233	24324976	134813687	874	15257											
MPP6	51678	genome.wustl.edu	37	chr7	24708156	24708156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatatatgaggaggtaGccaaaatgcctcccttccag	12	9	9	11	0	0	2	0	1	0	1	3	3	3	3	5	2	2	1	5	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:24708156G>T	ENST00000222644.5	+	9	1241	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S	MPP6_ENST00000396475.2_Missense_Mutation_p.A331S|MPP6_ENST00000409761.1_Missense_Mutation_p.A219S			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGAGGAGGTAGCCAAAATGCC	0.368																																																	0													90	90	90					7																	24708156		2203	4300	6503	SO:0001583	missense	0			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.991G>T	7.37:g.24708156G>T	ENSP00000222644:p.Ala331Ser		B2RAF0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A331S	ENST00000222644.5	37	c.991	CCDS5388.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.124596	0.94429	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.06933	3.47;3.24;3.47	5.46	5.46	0.80206	.	0.000000	0.52532	D	0.000070	T	0.19967	0.0480	M	0.64997	1.995	0.80722	D	1	D	0.55172	0.97	P	0.53006	0.715	T	0.00989	-1.1489	10	0.25751	T	0.34	.	19.3172	0.94220	0.0:0.0:1.0:0.0	.	331	Q9NZW5	MPP6_HUMAN	S	331;219;331	ENSP00000222644:A331S;ENSP00000386262:A219S;ENSP00000379737:A331S	ENSP00000222644:A331S	A	+	1	0	MPP6	24674681	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.869000	0.99810	2.569000	0.86673	0.305000	0.20034	GCC	MPP6	-	NULL	ENSG00000105926		0.368	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	HGNC	protein_coding	OTTHUMT00000250272.4	-	0	56	0	G			24708156	1	tier1	-	no_errors	ENST00000222644	ensembl	human	known	74_37	missense	9.52	76	8	SNP	1.000	T	T	24708156	G	T	24708156	3	4	58	1	0	0	0	0	1	0	0	0	9776	971	34	3	1021	3	MPP6	7	24708156	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	383180	24708156	134430507	875	15258											
PRR15	222171	genome.wustl.edu	37	chr7	29606191	29606191	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttatacggggacaaatcCggcagcagccgccgcaattt	12	7	11	11	4	0	0	0	0	0	0	1	1	1	1	3	3	3	4	3	3	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:29606191C>T	ENST00000319694.2	+	2	958	c.246C>T	c.(244-246)tcC>tcT	p.S82S	AC007255.8_ENST00000450540.2_RNA|AC007255.8_ENST00000447171.1_RNA	NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	82					multicellular organismal development (GO:0007275)					endometrium(1)|lung(1)|skin(1)	3						GGGACAAATCCGGCAGCAGCC	0.672																																																	0													7	9	8					7																	29606191		2173	4256	6429	SO:0001819	synonymous_variant	0			BC029131	CCDS5421.1	7p15.1	2006-08-21			ENSG00000176532	ENSG00000176532			22310	protein-coding gene	gene with protein product						12477932	Standard	NM_175887		Approved		uc003tac.1	Q8IV56	OTTHUMG00000128555	ENST00000319694.2:c.246C>T	7.37:g.29606191C>T				Silent	SNP	NULL	p.S82	ENST00000319694.2	37	c.246	CCDS5421.1	7																																																																																			PRR15	-	NULL	ENSG00000176532		0.672	PRR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR15	HGNC	protein_coding	OTTHUMT00000250402.2	-	0	25	0	C	NM_175887		29606191	1	tier1	-	no_errors	ENST00000319694	ensembl	human	known	74_37	silent	39.29	17	11	SNP	0.000	T	T	29606191	C	T	29606191	2	4	58	1	0	0	0	0	0	0	0	1	12629	639	23	1		1	PRR15	7	29606191	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4898035	29606191	129532472	876	15259											
GARS	2617	genome.wustl.edu	37	chr7	30661090	30661090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccaccaaagtcccacttGtagctgagaaacctctgaaa	14	7	8	12	0	1	2	0	2	1	1	2	4	2	2	4	0	3	2	4	0	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:30661090G>T	ENST00000389266.3	+	11	1682	c.1441G>T	c.(1441-1443)Gta>Tta	p.V481L		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	481					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGTCCCACTTGTAGCTGAGAA	0.413																																																	0													191	188	189					7																	30661090		1894	4128	6022	SO:0001583	missense	0			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1441G>T	7.37:g.30661090G>T	ENSP00000373918:p.Val481Leu		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly	p.V481L	ENST00000389266.3	37	c.1441	CCDS43564.1	7	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997958	0.74818	.	.	ENSG00000106105	ENST00000389266	D	0.86694	-2.16	5.64	5.64	0.86602	Aminoacyl-tRNA synthetase, class II (1);	0.162702	0.53938	D	0.000050	D	0.87649	0.6230	M	0.75884	2.315	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83948	0.0315	10	0.62326	D	0.03	-7.6753	17.5762	0.87950	0.0:0.0:1.0:0.0	.	481	P41250	SYG_HUMAN	L	481	ENSP00000373918:V481L	ENSP00000373918:V481L	V	+	1	0	GARS	30627615	1.000000	0.71417	0.964000	0.40570	0.996000	0.88848	3.453000	0.52978	2.831000	0.97527	0.650000	0.86243	GTA	GARS	-	pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly	ENSG00000106105		0.413	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1		0	59	0	G	NM_002047		30661090	1			no_errors	ENST00000389266	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	30661090	G	T	30661090	3	4	58	1	0	0	0	0	1	0	0	0	6267	1377	48	3	1483	3	GARS	7	30661090	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1054899	30661090	128477573	877	15260											
BBS9	27241	genome.wustl.edu	37	chr7	33296864	33296864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtcgagatttaatttgCatccagtctatggatgggat	10	15	11	5	1	1	1	0	0	1	1	3	4	2	3	1	3	1	1	1	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:33296864C>T	ENST00000242067.6	+	6	980	c.459C>T	c.(457-459)tgC>tgT	p.C153C	BBS9_ENST00000355070.2_Silent_p.C153C|BBS9_ENST00000425508.2_Silent_p.C108C|BBS9_ENST00000350941.3_Silent_p.C153C|BBS9_ENST00000354265.4_Silent_p.C153C|BBS9_ENST00000396127.2_Silent_p.C153C	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	153					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTTAATTTGCATCCAGTCTA	0.343									Bardet-Biedl syndrome																																								0													124	117	120					7																	33296864		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.459C>T	7.37:g.33296864C>T			E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	NULL	p.C153	ENST00000242067.6	37	c.459	CCDS43566.1	7																																																																																			BBS9	-	NULL	ENSG00000122507		0.343	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	-	0	52	0	C			33296864	1	tier1	-	no_errors	ENST00000242067	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.998	T	T	33296864	C	T	33296864	2	4	58	1	0	0	0	0	0	0	0	1	1343	718	25	3		3	BBS9	7	33296864	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2635774	33296864	125841799	878	15261											
HERPUD2	64224	genome.wustl.edu	37	chr7	35675005	35675005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtgccaaatttagaggCtgtgaagtagtaggctgggt	11	11	14	5	0	0	2	0	1	0	1	0	2	0	2	1	3	1	4	1	3	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:35675005C>T	ENST00000396081.1	-	6	1485	c.681G>A	c.(679-681)caG>caA	p.Q227Q	HERPUD2_ENST00000311350.3_Silent_p.Q227Q|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	227					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AATTTAGAGGCTGTGAAGTAG	0.423																																																	0													111	116	114					7																	35675005		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.681G>A	7.37:g.35675005C>T			A4D1Y8|Q9H6F9	Silent	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.Q227	ENST00000396081.1	37	c.681	CCDS5446.1	7																																																																																			HERPUD2	-	NULL	ENSG00000122557		0.423	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	-	0	73	0	C	NM_022373		35675005	-1	tier1	-	no_errors	ENST00000311350	ensembl	human	known	74_37	silent	48.81	43	41	SNP	0.998	T	T	35675005	C	T	35675005	2	4	58	1	0	0	0	0	0	0	0	1	7091	796	28	3		3	HERPUD2	7	35675005	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2378141	35675005	123463658	879	15262											
RALA	5898	genome.wustl.edu	37	chr7	39745766	39745766	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgagcgagaaagatggaAgacagcaaagaaaagaatgg	20	4	13	4	2	0	5	0	0	0	5	1	8	0	6	0	2	2	1	0	2	6	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:39745766A>G	ENST00000005257.2	+	5	923	c.543A>G	c.(541-543)gaA>gaG	p.E181E	RALA_ENST00000468201.1_3'UTR|AC004837.5_ENST00000435766.1_RNA	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	181					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GAAAGATGGAAGACAGCAAAG	0.318																																																	0													78	85	83					7																	39745766		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"RAS-like protein A", "Ras-related protein Ral-A", "Ras family small GTP binding protein RALA", "ras related GTP binding protein A"	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.543A>G	7.37:g.39745766A>G			A4D1W3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E181	ENST00000005257.2	37	c.543	CCDS5460.1	7																																																																																			RALA	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000006451		0.318	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALA	HGNC	protein_coding	OTTHUMT00000250696.2	-	0	13	0	A	NM_005402		39745766	1	tier1	-	no_errors	ENST00000005257	ensembl	human	known	74_37	silent	35.00	13	7	SNP	1.000	G	G	39745766	A	G	39745766	2	3	58	1	0	0	0	0	0	0	0	1	13055	69	3	4		4	RALA	7	39745766	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	4070761	39745766	119392897	880	15263											
GLI3	2737	genome.wustl.edu	37	chr7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-																															ccgcggacgtggccatcgccGgggggttgcagctgctgagg																								rs376956433		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:42005573delG	ENST00000395925.3	-	15	3182	c.3098delC	c.(3097-3099)ccgfs	p.P1033fs	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1033					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCCATCGCCGGGGGGTTGCA	0.701									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													18	21	20					7																	42005573		2198	4299	6497	SO:0001589	frameshift_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3098delC	7.37:g.42005573delG	ENSP00000379258:p.Pro1033fs		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1033fs	ENST00000395925.3	37	c.3098	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.701	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3		0	20	0	G	NM_000168		42005573	-1			no_errors	ENST00000395925	ensembl	human	known	74_37	frame_shift_del	37.50	5	3	DEL	0.131	0	-	42005573	G	-	42005573	7	5	58	1	0	1	0	1	0	0	0	0	6465	1116	39	0	1648	0	GLI3	7	42005573	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	2259807	42005573	117133090	881	15264											
MRPL32	64983	genome.wustl.edu	37	chr7	42977165	42977165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcgaccatcctggttcaCccagaattgacaccaaagat	15	7	7	12	1	1	3	1	1	0	2	2	4	2	3	4	1	1	1	4	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:42977165C>T	ENST00000223324.2	+	3	744	c.557C>T	c.(556-558)aCc>aTc	p.T186I	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	186					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCCTGGTTCACCCAGAATTGA	0.418																																																	0													60	56	58					7																	42977165		2203	4300	6503	SO:0001583	missense	0			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"Mitochondrial ribosomal proteins / large subunits"	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.557C>T	7.37:g.42977165C>T	ENSP00000223324:p.Thr186Ile		Q96Q68|Q9P098	Missense_Mutation	SNP	pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd	p.T186I	ENST00000223324.2	37	c.557	CCDS5468.1	7	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896256	0.52121	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.62	4.74	0.60224	.	0.387744	0.33650	N	0.004684	T	0.38054	0.1026	L	0.35341	1.055	0.35732	D	0.818	P	0.35527	0.507	B	0.28465	0.09	T	0.52480	-0.8570	9	0.45353	T	0.12	-18.1904	12.1394	0.53989	0.0:0.863:0.0:0.137	.	186	Q9BYC8	RM32_HUMAN	I	186	.	ENSP00000223324:T186I	T	+	2	0	MRPL32	42943690	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.614000	0.46359	2.644000	0.89710	0.561000	0.74099	ACC	MRPL32	-	NULL	ENSG00000106591		0.418	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL32	HGNC	protein_coding	OTTHUMT00000338669.1	-	0	13	0	C	NM_031903		42977165	1	tier1	-	no_errors	ENST00000223324	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T	T	42977165	C	T	42977165	3	4	58	1	0	0	0	0	1	0	0	0	9833	507	18	3	567	3	MRPL32	7	42977165	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	971592	42977165	116161498	882	15265											
TBRG4	9238	genome.wustl.edu	37	chr7	45144171	45144171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtccaagagcacatctttCgtcagagagaagggcttctg	11	9	11	10	2	3	3	1	0	2	3	5	4	4	3	1	1	1	2	1	1	2	2	rs376659192		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:45144171C>T	ENST00000258770.3	-	4	994	c.873G>A	c.(871-873)acG>acA	p.T291T	TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000494076.1_Silent_p.T291T|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Intron|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	291					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GCACATCTTTCGTCAGAGAGA	0.627																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	100	86	91		873,,	-11.4	0	7		91	0,8600		0,0,4300	no	coding-synonymous,intron,intron	TBRG4	NM_004749.2,NM_030900.2,NM_199122.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	291/632,,	45144171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"FAST kinase domains 4", "cell cycle progression 2 protein"	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.873G>A	7.37:g.45144171C>T			A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.T291	ENST00000258770.3	37	c.873	CCDS5501.1	7																																																																																			TBRG4	-	NULL	ENSG00000136270		0.627	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	HGNC	protein_coding	OTTHUMT00000251351.1	-	0	31	0	C	NM_030900		45144171	-1	tier1	-	no_errors	ENST00000258770	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.000	T	T	45144171	C	T	45144171	2	4	58	1	0	0	0	0	0	0	0	1	15696	871	31	1		1	TBRG4	7	45144171	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2167006	45144171	113994492	883	15266											
PKD1L1	168507	genome.wustl.edu	37	chr7	47842891	47842891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgccaggaagatagaCgcattttaatgtgaagagga	15	10	12	4	1	0	5	0	2	0	3	0	7	0	7	1	2	1	1	1	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:47842891C>T	ENST00000289672.2	-	53	7929	c.7879G>A	c.(7879-7881)Gtc>Atc	p.V2627I	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2627					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAAGATAGACGCATTTTAAT	0.498																																																	0													145	129	135					7																	47842891		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7879G>A	7.37:g.47842891C>T	ENSP00000289672:p.Val2627Ile		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.V2627I	ENST00000289672.2	37	c.7879	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	0.139	-1.104268	0.01828	.	.	ENSG00000158683	ENST00000289672	T	0.69926	-0.44	5.18	-10.4	0.00318	Polycystin cation channel, PKD1/PKD2 (1);	2.414090	0.01876	N	0.037596	T	0.36690	0.0976	N	0.04203	-0.255	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.33266	-0.9875	10	0.08599	T	0.76	-0.4855	10.7542	0.46225	0.0:0.4091:0.3386:0.2523	.	2627	Q8TDX9	PK1L1_HUMAN	I	2627	ENSP00000289672:V2627I	ENSP00000289672:V2627I	V	-	1	0	PKD1L1	47809416	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-3.800000	0.00363	-2.746000	0.00377	-1.371000	0.01190	GTC	PKD1L1	-	pfam_PKD1_2_channel	ENSG00000158683		0.498	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0	42	0	C	NM_138295		47842891	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	43.40	30	23	SNP	0.000	T	T	47842891	C	T	47842891	3	4	58	1	0	0	0	0	1	0	0	0	12003	536	19	1	690	1	PKD1L1	7	47842891	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2698720	47842891	111295772	884	15267											
PKD1L1	168507	genome.wustl.edu	37	chr7	47852865	47852865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtaggaatagagtcttcGatgagtgctgaaaatggcct	12	11	12	6	1	1	3	0	2	1	1	2	5	1	4	1	2	1	2	1	2	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:47852865G>A	ENST00000289672.2	-	49	7250	c.7200C>T	c.(7198-7200)atC>atT	p.I2400I	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2400					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAGAGTCTTCGATGAGTGCTG	0.537																																																	0													72	74	74					7																	47852865		2203	4300	6503	SO:0001819	synonymous_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7200C>T	7.37:g.47852865G>A			Q6UWK1	Silent	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.I2400	ENST00000289672.2	37	c.7200	CCDS34633.1	7																																																																																			PKD1L1	-	NULL	ENSG00000158683		0.537	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0	82	0	G	NM_138295		47852865	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	silent	52.83	25	28	SNP	0.000	A	A	47852865	G	A	47852865	2	1	58	1	0	0	0	0	0	0	0	1	12003	1048	37	1		1	PKD1L1	7	47852865	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	9974	47852865	111285798	885	15268											
ABCA13	154664	genome.wustl.edu	37	chr7	48312959	48312959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggacttcctggatctcagGgattttttggtagctttagg	7	15	13	6	0	1	0	1	0	1	0	3	4	2	3	1	5	1	2	1	5	2	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:48312959G>A	ENST00000435803.1	+	17	3720	c.3696G>A	c.(3694-3696)agG>agA	p.R1232R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1232					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGATCTCAGGGATTTTTTGG	0.383																																																	0													45	44	44					7																	48312959		1830	4077	5907	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3696G>A	7.37:g.48312959G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1232	ENST00000435803.1	37	c.3696	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	24	0	G	NM_152701		48312959	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	silent	43.48	13	10	SNP	0.030	A	A	48312959	G	A	48312959	2	1	58	1	0	0	0	0	0	0	0	1	31	1223	43	3		3	ABCA13	7	48312959	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	460094	48312959	110825704	886	15269											
DDC	1644	genome.wustl.edu	37	chr7	50544324	50544324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatctcccacttacccGgtagtcagtgataagccctg	9	10	10	12	1	2	1	1	1	1	0	3	2	2	2	3	2	2	1	3	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:50544324G>A	ENST00000444124.2	-	11	1239	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	DDC_ENST00000431062.1_Missense_Mutation_p.R254W|DDC_ENST00000357936.5_Missense_Mutation_p.R347W|DDC_ENST00000426377.1_Missense_Mutation_p.R269W	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	347			R -> Q (in AADCD). {ECO:0000269|PubMed:15079002}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCACTTACCCGGTAGTCAGTG	0.463																																																	0													67	64	65					7																	50544324		2203	4300	6503	SO:0001583	missense	0				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1039C>T	7.37:g.50544324G>A	ENSP00000403644:p.Arg347Trp		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R347W	ENST00000444124.2	37	c.1039	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217711	0.58560	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.4	2.89	0.33648	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	11.424500	0.01762	N	0.030602	T	0.72293	0.3442	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.53760	-0.8393	10	0.87932	D	0	-1.4989	10.8826	0.46948	0.0:0.0:0.3102:0.6898	.	347;347	Q53Y41;P20711	.;DDC_HUMAN	W	347;254;269;347	ENSP00000350616:R347W;ENSP00000399184:R254W;ENSP00000395069:R269W;ENSP00000403644:R347W	ENSP00000350616:R347W	R	-	1	2	DDC	50511818	0.998000	0.40836	1.000000	0.80357	0.484000	0.33280	1.401000	0.34589	0.985000	0.38656	-0.271000	0.10264	CGG	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	ENSG00000132437		0.463	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1		0	11	0	G			50544324	-1			no_errors	ENST00000357936	ensembl	human	known	74_37	missense	75.00	1	3	SNP	1.000	A	A	50544324	G	A	50544324	3	1	58	1	0	0	0	0	1	0	0	0	4334	1115	39	1	419	1	DDC	7	50544324	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2231365	50544324	108594339	887	15270											
PSPH	5723	genome.wustl.edu	37	chr7	56087302	56087302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcctcttaccttatgccgGgggtcaggtgtgggggttgc	3	13	16	9	1	2	0	1	0	1	0	3	0	3	0	3	5	3	2	3	5	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:56087302G>T	ENST00000395471.3	-	5	1071	c.266C>A	c.(265-267)cCc>cAc	p.P89H	PSPH_ENST00000275605.3_Missense_Mutation_p.P89H|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	89					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTATGCCGGGGGTCAGGTG	0.572																																																	0													49	43	45					7																	56087302		2203	4300	6503	SO:0001583	missense	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.266C>A	7.37:g.56087302G>T	ENSP00000378854:p.Pro89His		B2RCR5|Q7Z3S5	Missense_Mutation	SNP	pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.P89H	ENST00000395471.3	37	c.266	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258987	0.39896	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.86865	-2.18;-2.18;-2.18	5.03	5.03	0.67393	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.109437	0.64402	D	0.000005	D	0.89354	0.6691	M	0.89785	3.06	0.58432	D	0.999996	B;B	0.30937	0.301;0.1	B;B	0.32762	0.152;0.105	D	0.89921	0.4059	10	0.87932	D	0	-11.5348	12.451	0.55677	0.0:0.0:0.8325:0.1674	.	89;89	Q53EY1;P78330	.;SERB_HUMAN	H	89	ENSP00000275605:P89H;ENSP00000378854:P89H;ENSP00000398653:P89H	ENSP00000275605:P89H	P	-	2	0	PSPH	56054796	1.000000	0.71417	0.926000	0.36857	0.233000	0.25261	6.034000	0.70933	2.337000	0.79520	0.591000	0.81541	CCC	PSPH	-	pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	ENSG00000146733		0.572	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	-	0	60	0	G	NM_004577		56087302	-1	tier1	-	no_errors	ENST00000275605	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.996	T	T	56087302	G	T	56087302	3	4	58	1	0	0	0	0	1	0	0	0	12759	1232	43	3	427	3	PSPH	7	56087302	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5542978	56087302	103051361	888	15271											
ZNF479	90827	genome.wustl.edu	37	chr7	57200022	57200022	+	Frame_Shift_Del	DEL	T	T	-																															gcttccagggggtcctggtcTtttagccataaatctgcaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:57200022delT	ENST00000331162.4	-	2	280	c.10delA	c.(10-12)agafs	p.R4fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGTCCTGGTCTTTTAGCCATA	0.552																																																	0													56	55	56					7																	57200022		2053	4225	6278	SO:0001589	frameshift_variant	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.10delA	7.37:g.57200022delT	ENSP00000333776:p.Arg4fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R4fs	ENST00000331162.4	37	c.10	CCDS43590.1	7																																																																																			ZNF479	-	NULL	ENSG00000185177		0.552	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1		0	151	0	T	XM_291202		57200022	-1	tier1		no_errors	ENST00000331162	ensembl	human	known	74_37	frame_shift_del	24.48	108	35	DEL	0.094	-	-	57200022	T	-	57200022	7	5	58	1	0	1	0	1	0	0	0	0	17981	1617	56	0	1580	0	ZNF479	7	57200022	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	1112720	57200022	101938641	889	15272											
ZNF680	340252	genome.wustl.edu	37	chr7	63981718	63981719	+	Frame_Shift_Ins	INS	-	-	A																															gcaagagttgcaggccagttINSaaaaacattgccacattcat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:63981718_63981719insA	ENST00000309683.6	-	4	1564_1565	c.1413_1414insT	c.(1411-1416)tttaacfs	p.N472fs	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GCAGGCCAGTTAAAAACATTGC	0.376																																																	0																																										SO:0001589	frameshift_variant	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1414dupT	7.37:g.63981723_63981723dupA	ENSP00000309330:p.Asn472fs		B3KVJ4|Q6ZNF3|Q8NC79	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N471fs	ENST00000309683.6	37	c.1414_1413	CCDS34644.1	7																																																																																			ZNF680	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173041		0.376	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1		0	37	0	-	NM_178558		63981719	-1	tier1		no_errors	ENST00000309683	ensembl	human	known	74_37	frame_shift_ins	28.26	33	13	INS	0.986:0.998	A	A	63981719	-	A	63981718	7	5	58	1	0	1	1	0	0	0	0	0	18135	1754	61	0	182	0	ZNF680	7	63981718	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	6781696	63981718	95156945	890	15273											
STAG3L3	442578	genome.wustl.edu	37	chr7	72470041	72470042	+	RNA	DEL	CT	CT	-																															gcctccactgccacactgtaCtctctgtccatgatcatgga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:72470041_72470042delCT	ENST00000428423.1	-	0	559_560							P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3							nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3		Lung NSC(55;0.197)				CCACACTGTACTCTCTGTCCAT	0.475																																																	0																																												0					7q11.23	2014-02-20			ENSG00000174353	ENSG00000174353			33845	other	unknown							Standard	NR_040582		Approved		uc022afp.1	P0CL85	OTTHUMG00000157064		7.37:g.72470045_72470046delCT			A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	-	NULL	ENST00000428423.1	37	NULL		7																																																																																			STAG3L3	-	-	ENSG00000174353		0.475	STAG3L3-004	KNOWN	basic	processed_transcript	STAG3L3	HGNC	pseudogene	OTTHUMT00000347342.1		0	401	0	CT	NM_001013739		72470042	-1	tier1		no_errors	ENST00000423834	ensembl	human	known	74_37	rna	16.10	323	62	DEL	1.000:1.000	-	-	72470042	CT	-	72470041	6	5	58	0	1	1	0	1	0	0	0	0	15293	564	20	0		0	STAG3L3	7	72470041	RNA	DEL	CT	TCGA-L5-A4OI-01A-11D-A27G-09	8488323	72470041	86668622	891	15274											
CLIP2	7461	genome.wustl.edu	37	chr7	73790972	73790972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaccggggccaggcgcaGgctatcgagttcctcaagga	9	6	15	11	3	1	0	1	0	0	0	3	3	2	1	3	5	1	4	3	5	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:73790972G>T	ENST00000395060.1	+	9	2241	c.2241G>T	c.(2239-2241)caG>caT	p.Q747H	CLIP2_ENST00000223398.6_Missense_Mutation_p.Q747H|CLIP2_ENST00000361545.5_Missense_Mutation_p.Q712H			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	747						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCAGGCGCAGGCTATCGAGT	0.647																																																	0													30	39	36					7																	73790972		2203	4300	6503	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2241G>T	7.37:g.73790972G>T	ENSP00000378500:p.Gln747His		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.Q747H	ENST00000395060.1	37	c.2241	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180634	0.38511	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.60797	0.16;0.17;0.16	4.9	1.74	0.24563	.	0.524833	0.20206	N	0.096989	T	0.47764	0.1463	L	0.27053	0.805	0.27964	N	0.93668	D;P;B	0.56968	0.978;0.547;0.412	P;B;B	0.52267	0.694;0.346;0.259	T	0.38067	-0.9678	10	0.62326	D	0.03	-25.0114	4.4371	0.11555	0.3279:0.1646:0.5075:0.0	.	712;712;747	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	H	747;747;712;747	ENSP00000223398:Q747H;ENSP00000355151:Q712H;ENSP00000378500:Q747H	ENSP00000223398:Q747H	Q	+	3	2	CLIP2	73428908	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.092000	0.41700	1.034000	0.39945	0.449000	0.29647	CAG	CLIP2	-	NULL	ENSG00000106665		0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	-	0	42	0	G	NM_003388		73790972	1	tier1	-	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	41.67	28	20	SNP	0.969	T	T	73790972	G	T	73790972	3	4	58	1	0	0	0	0	1	0	0	0	3540	991	35	3	2275	3	CLIP2	7	73790972	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1320931	73790972	85347691	892	15275											
GTF2IRD1	9569	genome.wustl.edu	37	chr7	73961439	73961439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatgtctctgcagccaaggCcattggcatctcggagcccg	7	8	11	15	2	2	0	0	0	2	0	4	1	2	1	4	3	3	2	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:73961439C>A	ENST00000265755.3	+	17	2132	c.1739C>A	c.(1738-1740)gCc>gAc	p.A580D	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.A580D|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A612D|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A580D	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	580					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGCCAAGGCCATTGGCATC	0.642																																																	0													84	78	80					7																	73961439		2203	4300	6503	SO:0001583	missense	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"binding factor for early enhancer"	604318	"GTF2I repeat domain-containing 1"	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1739C>A	7.37:g.73961439C>A	ENSP00000265755:p.Ala580Asp		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.A580D	ENST00000265755.3	37	c.1739	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995432	0.93167	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.85	4.85	0.62838	.	0.125205	0.52532	D	0.000071	T	0.81721	0.4882	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.998;0.995	D;D;D;D	0.91635	0.999;0.949;0.979;0.972	D	0.84527	0.0631	10	0.87932	D	0	-7.129	16.9588	0.86267	0.0:1.0:0.0:0.0	.	612;580;580;580	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	D	580;612;580;580	ENSP00000265755:A580D;ENSP00000397566:A612D;ENSP00000408477:A580D;ENSP00000418383:A580D	ENSP00000265755:A580D	A	+	2	0	GTF2IRD1	73599375	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.213000	0.77950	2.231000	0.72958	0.555000	0.69702	GCC	GTF2IRD1	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000006704		0.642	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	-	0	65	0	C	NM_016328		73961439	1	tier1	-	no_errors	ENST00000265755	ensembl	human	known	74_37	missense	34.43	40	21	SNP	1.000	A	A	73961439	C	A	73961439	3	1	58	1	0	0	0	0	1	0	0	0	6895	739	26	3	1801	3	GTF2IRD1	7	73961439	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	170467	73961439	85177224	893	15276											
PHTF2	57157	genome.wustl.edu	37	chr7	77539699	77539699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcactgtcttcagagatcTctggcatgctgctttctttt	5	17	9	10	0	4	1	1	0	3	1	5	2	4	1	0	2	2	4	0	2	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:77539699T>C	ENST00000248550.7	+	8	825	c.749T>C	c.(748-750)cTc>cCc	p.L250P	PHTF2_ENST00000307305.8_Missense_Mutation_p.L212P|PHTF2_ENST00000415251.2_Missense_Mutation_p.L212P|PHTF2_ENST00000450574.1_Missense_Mutation_p.L216P|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Missense_Mutation_p.L212P|PHTF2_ENST00000416283.2_Missense_Mutation_p.L216P|PHTF2_ENST00000422959.2_Missense_Mutation_p.L216P|PHTF2_ENST00000424760.1_Missense_Mutation_p.L212P			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTCAGAGATCTCTGGCATGCT	0.438																																																	0													103	100	101					7																	77539699		1966	4158	6124	SO:0001583	missense	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.749T>C	7.37:g.77539699T>C	ENSP00000248550:p.Leu250Pro		A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.L250P	ENST00000248550.7	37	c.749		7	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059845	0.76074	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.5	5.5	0.81552	.	0.129118	0.53938	D	0.000043	T	0.62429	0.2427	L	0.29908	0.895	0.80722	D	1	D;P;D;B;D;D;P;P;B	0.67145	0.978;0.946;0.992;0.008;0.976;0.996;0.824;0.95;0.156	P;P;P;B;P;P;P;P;B	0.62813	0.804;0.714;0.907;0.019;0.746;0.898;0.522;0.526;0.035	T	0.59451	-0.7452	9	0.27082	T	0.32	-8.8957	15.6105	0.76713	0.0:0.0:0.0:1.0	.	54;212;75;216;250;216;212;212;212	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;.;.;PHTF2_HUMAN;.;.;.;.	P	216;216;212;212;212;212;216;216;250	.	ENSP00000248550:L250P	L	+	2	0	PHTF2	77377635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.379000	0.79691	2.094000	0.63399	0.533000	0.62120	CTC	PHTF2	-	NULL	ENSG00000006576		0.438	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	-	0	67	0	T	NM_020432		77539699	1	tier1	-	no_errors	ENST00000248550	ensembl	human	known	74_37	missense	37.21	54	32	SNP	1.000	C	C	77539699	T	C	77539699	3	2	58	1	0	0	0	0	1	0	0	0	11902	1551	54	4	673	4	PHTF2	7	77539699	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3578260	77539699	81598964	894	15277											
PHTF2	57157	genome.wustl.edu	37	chr7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-																															tgtctcttgtgtggattttcTtttttttgctctgtgtagca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																																	0													155	145	148					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs		A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	pfam_TF_homeodomain_male	p.L570fs	ENST00000248550.7	37	c.1702		7																																																																																			PHTF2	-	NULL	ENSG00000006576		0.303	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2		0	50	0	T	NM_020432		77569581	1	tier1		no_errors	ENST00000248550	ensembl	human	known	74_37	frame_shift_del	27.50	58	22	DEL	1.000	-	-	77569581	T	-	77569581	7	5	58	1	0	1	0	1	0	0	0	0	11902	1609	56	0	1700	0	PHTF2	7	77569581	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	29882	77569581	81569082	895	15278											
MAGI2	9863	genome.wustl.edu	37	chr7	77797325	77797325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacatagcggtgggttttgCcggctactggaatcccatca	8	11	12	10	2	1	1	1	1	0	0	2	2	2	2	2	4	3	2	2	4	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:77797325C>T	ENST00000354212.4	-	15	2757	c.2504G>A	c.(2503-2505)gGc>gAc	p.G835D	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGGGTTTTGCCGGCTACTGG	0.537																																																	0													165	148	154					7																	77797325		2203	4300	6503	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2504G>A	7.37:g.77797325C>T	ENSP00000346151:p.Gly835Asp		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.G835D	ENST00000354212.4	37	c.2504	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.441528	0.96187	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.52983	0.64;0.78;0.78	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002175	T	0.62612	0.2442	L	0.39692	1.235	0.80722	D	1	D;D;D	0.76494	0.978;0.999;0.993	P;D;P	0.73708	0.831;0.981;0.831	T	0.60459	-0.7259	10	0.54805	T	0.06	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	835;821;835	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	D	821;835;835;835	ENSP00000405766:G821D;ENSP00000346151:G835D;ENSP00000428389:G835D	ENSP00000346151:G835D	G	-	2	0	MAGI2	77635261	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GGC	MAGI2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000187391		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3		0	123	0	C	NM_012301		77797325	-1			no_errors	ENST00000354212	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T	T	77797325	C	T	77797325	3	4	58	1	0	0	0	0	1	0	0	0	9229	739	26	3	1895	3	MAGI2	7	77797325	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	227744	77797325	81341338	896	15279											
CD36	948	genome.wustl.edu	37	chr7	80286011	80286011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaagaggtccttatacGtacaggtgagtgagtcccca	13	8	11	9	1	0	3	0	2	0	1	2	3	2	3	3	2	3	2	3	2	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:80286011G>A	ENST00000435819.1	+	7	960	c.276G>A	c.(274-276)acG>acA	p.T92T	CD36_ENST00000534394.1_Silent_p.T16T|CD36_ENST00000447544.2_Silent_p.T92T|CD36_ENST00000394788.3_Silent_p.T92T|CD36_ENST00000309881.7_Silent_p.T92T|CD36_ENST00000538969.1_Silent_p.T92T|CD36_ENST00000544133.1_Silent_p.T92T|CD36_ENST00000432207.1_Silent_p.T92T|CD36_ENST00000433696.2_Silent_p.T92T			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	92					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTCCTTATACGTACAGGTGAG	0.393																																																	0													85	78	80					7																	80286011		2203	4300	6503	SO:0001819	synonymous_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.276G>A	7.37:g.80286011G>A			D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.T92	ENST00000435819.1	37	c.276	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36	ENSG00000135218		0.393	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	-	0	26	0	G	NM_001001547		80286011	1	tier1	-	no_errors	ENST00000309881	ensembl	human	known	74_37	silent	52.38	10	11	SNP	0.004	A	A	80286011	G	A	80286011	2	1	58	1	0	0	0	0	0	0	0	1	3014	1132	40	1		1	CD36	7	80286011	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2488686	80286011	78852652	897	15280											
PCLO	27445	genome.wustl.edu	37	chr7	82791762	82791762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgtctcctctcctcttcGctcagctggctcaaatccgc	5	13	6	17	2	6	0	2	0	4	0	10	0	7	0	3	1	1	3	3	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:82791762G>A	ENST00000333891.9	-	1	484	c.147C>T	c.(145-147)agC>agT	p.S49S	PCLO_ENST00000423517.2_Silent_p.S49S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTCCTCTTCGCTCAGCTGGC	0.706																																																	0													22	27	25					7																	82791762		2060	4185	6245	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.147C>T	7.37:g.82791762G>A				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S49	ENST00000333891.9	37	c.147	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.706	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	145	0	G	NM_014510		82791762	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	38.68	65	41	SNP	1.000	A	A	82791762	G	A	82791762	2	1	58	1	0	0	0	0	0	0	0	1	11622	1078	38	1		1	PCLO	7	82791762	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2505751	82791762	76346901	898	15281											
ADAM22	53616	genome.wustl.edu	37	chr7	87762205	87762205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaatttgagagtagccGgagcggggcagcttatattg	11	10	14	6	2	1	1	1	1	0	1	1	3	1	2	1	3	3	3	1	3	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:87762205G>A	ENST00000265727.7	+	12	1095	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	ADAM22_ENST00000398201.4_Missense_Mutation_p.R339Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R339Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R339Q|ADAM22_ENST00000398204.4_Missense_Mutation_p.R339Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	339	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAGTAGCCGGAGCGGGGCA	0.418																																																	0													153	158	157					7																	87762205		2003	4184	6187	SO:0001583	missense	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1016G>A	7.37:g.87762205G>A	ENSP00000265727:p.Arg339Gln		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R339Q	ENST00000265727.7	37	c.1016	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750889	0.89753	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.281111	0.37053	N	0.002265	T	0.33644	0.0870	M	0.63843	1.955	0.53688	D	0.999972	D;D;D;P	0.60575	0.988;0.985;0.988;0.902	P;P;P;B	0.53912	0.737;0.619;0.737;0.392	T	0.05616	-1.0874	10	0.54805	T	0.06	.	18.5529	0.91072	0.0:0.0:1.0:0.0	.	391;339;339;339	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Q	339;339;339;339;339;306	ENSP00000381262:R339Q;ENSP00000381260:R339Q;ENSP00000265727:R339Q;ENSP00000315900:R339Q;ENSP00000381267:R339Q;ENSP00000381261:R306Q	ENSP00000265727:R339Q	R	+	2	0	ADAM22	87600141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.376000	0.81061	0.655000	0.94253	CGG	ADAM22	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000008277		0.418	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0	171	0	G	NM_021723		87762205	1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	35.77	88	49	SNP	1.000	A	A	87762205	G	A	87762205	3	1	58	1	0	0	0	0	1	0	0	0	244	1116	39	1	1062	1	ADAM22	7	87762205	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4970443	87762205	71376458	899	15282											
AKAP9	10142	genome.wustl.edu	37	chr7	91695843	91695843	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgattccagcctatcagtGaacatcaaactagagaggta	14	9	8	10	1	2	2	2	1	0	1	4	4	3	2	2	1	3	1	2	1	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:91695843G>T	ENST00000359028.2	+	27	6574	c.6349G>T	c.(6349-6351)Gaa>Taa	p.E2117*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E2117*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E2105*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2117	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCTATCAGTGAACATCAAAC	0.358			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													92	87	89					7																	91695843		2203	4300	6503	SO:0001587	stop_gained	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6349G>T	7.37:g.91695843G>T	ENSP00000351922:p.Glu2117*		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.E2117*	ENST00000359028.2	37	c.6349		7	.	.	.	.	.	.	.	.	.	.	G	49	15.014504	0.99819	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	.	.	.	5.37	5.37	0.77165	.	0.000000	0.38897	N	0.001524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.4679	0.94950	0.0:0.0:1.0:0.0	.	.	.	.	X	2105;2117;2117;2117	.	ENSP00000348573:E2105X	E	+	1	0	AKAP9	91533779	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	8.731000	0.91529	2.671000	0.90904	0.585000	0.79938	GAA	AKAP9	-	NULL	ENSG00000127914		0.358	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	21	0	G	NM_005751		91695843	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	1.000	T	T	91695843	G	T	91695843	4	4	58	1	0	0	0	0	0	1	0	0	459	1291	45	3	6415	3	AKAP9	7	91695843	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3933638	91695843	67442820	900	15283											
PEX1	5189	genome.wustl.edu	37	chr7	92132381	92132381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggctgaatgtgttggaCgcactgaaatatgtgaactc	12	10	13	6	1	0	3	0	3	0	0	1	5	0	5	0	3	1	3	0	3	4	2	rs141510219	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:92132381C>T	ENST00000248633.4	-	13	2295	c.2200G>A	c.(2200-2202)Gtc>Atc	p.V734I	PEX1_ENST00000541751.1_Missense_Mutation_p.V151I|PEX1_ENST00000438045.1_Missense_Mutation_p.V412I|PEX1_ENST00000428214.1_Missense_Mutation_p.V677I	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	734					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGTGTTGGACGCACTGAAAT	0.358																																																	0								C	ILE/VAL	0,4406		0,0,2203	112	107	109		2200	-2.6	0	7	dbSNP_134	109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PEX1	NM_000466.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	734/1284	92132381	4,13002	2203	4300	6503	SO:0001583	missense	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2200G>A	7.37:g.92132381C>T	ENSP00000248633:p.Val734Ile		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.V734I	ENST00000248633.4	37	c.2200	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238466	0.01493	0.0	4.65E-4	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000541751	D;D;T;D	0.82711	-1.63;-1.63;2.33;-1.64	5.68	-2.57	0.06248	ATPase, AAA+ type, core (1);	0.490953	0.23874	N	0.043708	T	0.68476	0.3005	L	0.44542	1.39	0.09310	N	1	B;B;B	0.12013	0.004;0.005;0.003	B;B;B	0.06405	0.002;0.001;0.001	T	0.53222	-0.8469	10	0.10902	T	0.67	-0.8915	7.6612	0.28404	0.1659:0.4459:0.0:0.3882	.	412;526;734	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	I	412;734;677;151	ENSP00000410438:V412I;ENSP00000248633:V734I;ENSP00000394413:V677I;ENSP00000438637:V151I	ENSP00000248633:V734I	V	-	1	0	PEX1	91970317	0.012000	0.17670	0.012000	0.15200	0.516000	0.34256	0.014000	0.13333	-0.806000	0.04398	-1.305000	0.01319	GTC	PEX1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000127980		0.358	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3	-	0	52	0	C	NM_000466		92132381	-1	tier1	rs141510219	no_errors	ENST00000248633	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.032	T	T	92132381	C	T	92132381	3	4	58	1	0	0	0	0	1	0	0	0	11774	536	19	1	1699	1	PEX1	7	92132381	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	436538	92132381	67006282	901	15284											
SAMD9	54809	genome.wustl.edu	37	chr7	92731997	92731997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatgttcccgtttcctccGttttcctctatccaccatct	6	16	4	15	2	2	0	0	0	2	0	7	1	7	0	6	0	0	3	6	0	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:92731997G>A	ENST00000379958.2	-	3	3683	c.3414C>T	c.(3412-3414)aaC>aaT	p.N1138N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1138						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTTTCCTCCGTTTTCCTCTA	0.378																																																	0													189	189	189					7																	92731997		2203	4300	6503	SO:0001819	synonymous_variant	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3414C>T	7.37:g.92731997G>A			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.N1138	ENST00000379958.2	37	c.3414	CCDS34680.1	7																																																																																			SAMD9	-	NULL	ENSG00000205413		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	-	0	53	0	G	NM_017654		92731997	-1	tier1	-	no_errors	ENST00000379958	ensembl	human	known	74_37	silent	37.50	30	18	SNP	0.000	A	A	92731997	G	A	92731997	2	1	58	1	0	0	0	0	0	0	0	1	13871	1136	40	1		1	SAMD9	7	92731997	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	599616	92731997	66406666	902	15285											
SAMD9	54809	genome.wustl.edu	37	chr7	92734717	92734717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaatgaatagtgccatTggtacgtgaattcatacaag	15	11	8	7	1	1	2	1	2	0	0	2	2	2	2	2	1	3	1	2	1	8	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:92734717T>C	ENST00000379958.2	-	3	963	c.694A>G	c.(694-696)Aat>Gat	p.N232D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	232						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTGCCATTGGTACGTGAA	0.403																																																	0													137	131	133					7																	92734717		2203	4300	6503	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.694A>G	7.37:g.92734717T>C	ENSP00000369292:p.Asn232Asp		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.N232D	ENST00000379958.2	37	c.694	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503427	0.85176	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14893	2.47;2.47	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000003	T	0.38188	0.1031	M	0.61703	1.905	0.37966	D	0.933142	D	0.89917	1.0	D	0.87578	0.998	T	0.40997	-0.9533	10	0.87932	D	0	.	13.1383	0.59421	0.0:0.0:0.0:1.0	.	232	Q5K651	SAMD9_HUMAN	D	232	ENSP00000369292:N232D;ENSP00000414529:N232D	ENSP00000369292:N232D	N	-	1	0	SAMD9	92572653	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.525000	0.81892	2.042000	0.60477	0.491000	0.48974	AAT	SAMD9	-	NULL	ENSG00000205413		0.403	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	-	0	90	0	T	NM_017654		92734717	-1	tier1	-	no_errors	ENST00000379958	ensembl	human	known	74_37	missense	34.78	60	32	SNP	1.000	C	C	92734717	T	C	92734717	3	2	58	1	0	0	0	0	1	0	0	0	13871	1812	63	4	4079	4	SAMD9	7	92734717	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2720	92734717	66403946	903	15286											
PON2	5445	genome.wustl.edu	37	chr7	95045559	95045560	+	Frame_Shift_Ins	INS	-	-	A																															aagaagacactcaccacactINSaaaaaaagccagaccattgg																								rs115800748	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:95045559_95045560insA	ENST00000222572.3	-	3	441_442	c.195_196insT	c.(193-198)tttagtfs	p.S66fs	PON2_ENST00000433091.2_Frame_Shift_Ins_p.S66fs|GS1-293C5.1_ENST00000608730.1_RNA|PON2_ENST00000536183.1_Frame_Shift_Ins_p.S87fs			Q15165	PON2_HUMAN	paraoxonase 2	66					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTCACCACACTAAAAAAAGCCA	0.376																																					GBM(42;803 823 13649 23368 31463)												0																																										SO:0001589	frameshift_variant	0			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"Paraoxonases"	9205	protein-coding gene	gene with protein product	"paraoxonase nirs", "arylesterase 2"	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.196dupT	7.37:g.95045566_95045566dupA	ENSP00000222572:p.Ser66fs		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Frame_Shift_Ins	INS	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.S86fs	ENST00000222572.3	37	c.259_258	CCDS5640.1	7																																																																																			PON2	-	NULL	ENSG00000105854		0.376	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1		0	59	0	-	NM_000305		95045560	-1	tier1		no_errors	ENST00000536183	ensembl	human	known	74_37	frame_shift_ins	38.10	39	24	INS	0.999:0.867	A	A	95045560	-	A	95045559	7	5	58	1	0	1	1	0	0	0	0	0	12288	1522	53	0	896	0	PON2	7	95045559	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	2310842	95045559	64093104	904	15287											
DLX6	1750	genome.wustl.edu	37	chr7	96635421	96635423	+	In_Frame_Del	DEL	GCC	GCC	-																															cagcagcagcaacagcaacaGccgccgccgccgccgccgcc																								rs527616759|rs540915866|rs570498188|rs374304439	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:96635421_96635423delGCC	ENST00000518156.2	+	1	562_564	c.132_134delGCC	c.(130-135)cagccg>cag	p.P53del	DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					aacagcaacagccgccgccgccg	0.704																																																	0																																										SO:0001651	inframe_deletion	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.132_134delGCC	7.37:g.96635430_96635432delGCC	ENSP00000428480:p.Pro53del		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P48in_frame_del	ENST00000518156.2	37	c.132_134	CCDS47647.2	7																																																																																			DLX6	-	NULL	ENSG00000006377		0.704	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4		0	49	0	GCC	NM_005222		96635423	1	tier1		no_errors	ENST00000518156	ensembl	human	known	74_37	in_frame_del	12.50	49	7	DEL	1.000:1.000:0.992	-	-	96635423	GCC	-	96635421	7	5	58	1	0	1	0	1	0	0	0	0	4589	962	34	0	134	0	DLX6	7	96635421	In_Frame_Del	DEL	GCC	TCGA-L5-A4OI-01A-11D-A27G-09	1589862	96635421	62503242	905	15288											
DLX6	1750	genome.wustl.edu	37	chr7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-																															cggcggcagcggccggctcgCaccaccaccaccaccaccag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:96635545_96635547delCAC	ENST00000518156.2	+	1	686_688	c.256_258delCAC	c.(256-258)cacdel	p.H91del	DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.729																																																	0										63,3,2684		10,0,43,0,3,1319						-4.9	0.2			10	115,3,5884		8,1,98,0,2,2892	no	codingComplex	DLX6	NM_005222.3		18,1,141,0,5,4211	A1A1,A1A2,A1R,A2A2,A2R,RR		1.966,2.4,2.1024				178,6,8568				SO:0001651	inframe_deletion	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"Homeoboxes / ANTP class : NKL subclass"	2919	protein-coding gene	gene with protein product		600030	"distal-less homeo box 6"			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.256_258delCAC	7.37:g.96635554_96635556delCAC	ENSP00000428480:p.His91del		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.H89in_frame_del	ENST00000518156.2	37	c.256_258	CCDS47647.2	7																																																																																			DLX6	-	NULL	ENSG00000006377		0.729	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4		0	8	0	CAC	NM_005222		96635547	1	tier1		no_errors	ENST00000518156	ensembl	human	known	74_37	in_frame_del	42.86	4	3	DEL	0.872:0.883:0.914	-	-	96635547	CAC	-	96635545	7	5	58	1	0	1	0	1	0	0	0	0	4589	710	25	0	258	0	DLX6	7	96635545	In_Frame_Del	DEL	CAC	TCGA-L5-A4OI-01A-11D-A27G-09	124	96635545	62503118	906	15289											
BHLHA15	168620	genome.wustl.edu	37	chr7	97841874	97841874	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagagcaacgagagggagCggcagcggatgcacaagcta	13	3	17	8	3	0	2	0	0	0	2	0	6	0	4	0	4	6	4	0	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:97841874C>A	ENST00000609256.1	+	2	379	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	BHLHA15_ENST00000314018.2_Silent_p.R85R			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	85	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)										CGAGAGGGAGCGGCAGCGGAT	0.682																																																	0													32	27	29					7																	97841874		2182	4262	6444	SO:0001819	synonymous_variant	0			BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"Basic helix-loop-helix proteins"	22265	protein-coding gene	gene with protein product		608606	"basic helix-loop-helix domain containing, class B, 8"	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.253C>A	7.37:g.97841874C>A			A4D271|Q14DE4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R85	ENST00000609256.1	37	c.253	CCDS5655.1	7																																																																																			BHLHA15	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000180535		0.682	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BHLHA15	HGNC	protein_coding	OTTHUMT00000472733.1	-	0	20	0	C	NM_177455		97841874	1	tier1	-	no_errors	ENST00000314018	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.995	A	A	97841874	C	A	97841874	2	1	58	1	0	0	0	0	0	0	0	1	1421	759	27	2		2	BHLHA15	7	97841874	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1206329	97841874	61296789	907	15290											
ZNF789	285989	genome.wustl.edu	37	chr7	99084704	99084705	+	Frame_Shift_Ins	INS	-	-	A																															ttataaatgtagcaaatgtgINSaaaaaacgtttagtcagaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:99084704_99084705insA	ENST00000331410.5	+	5	1141_1142	c.871_872insA	c.(871-873)gaafs	p.E291fs	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGCAAATGTGAAAAAACGTTT	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.877dupA	7.37:g.99084710_99084710dupA	ENSP00000331927:p.Glu291fs		A4D282|A6NH61|Q6ZMZ9	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T293fs	ENST00000331410.5	37	c.871_872	CCDS34693.1	7																																																																																			ZNF789	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198556		0.411	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF789	HGNC	protein_coding	OTTHUMT00000336266.1		0	23	0	-	NM_213603		99084705	1	tier1		no_errors	ENST00000331410	ensembl	human	known	74_37	frame_shift_ins	33.33	14	7	INS	0.985:0.272	A	A	99084705	-	A	99084704	7	5	58	1	0	1	1	0	0	0	0	0	18208	1291	45	0	927	0	ZNF789	7	99084704	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1242830	99084704	60053959	908	15291											
TAF6	6878	genome.wustl.edu	37	chr7	99709401	99709401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagcgctttcaccatacGcatcaggtagatgagtaggg	11	9	11	10	2	3	2	3	1	0	1	3	2	3	2	1	2	2	4	1	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:99709401G>A	ENST00000344095.4	-	9	1375	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.R284C|TAF6_ENST00000418432.2_Missense_Mutation_p.R208C|TAF6_ENST00000437822.2_Missense_Mutation_p.R321C|TAF6_ENST00000453269.2_Missense_Mutation_p.R284C|TAF6_ENST00000472509.1_Missense_Mutation_p.R341C	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	284					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCACCATACGCATCAGGTAG	0.572																																																	0													146	131	136					7																	99709401		2203	4300	6503	SO:0001583	missense	0				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD", "transcription initiation factor TFIID 70 kD subunit"	602955	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.850C>T	7.37:g.99709401G>A	ENSP00000344537:p.Arg284Cys		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.R284C	ENST00000344095.4	37	c.850	CCDS5686.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087591	0.76642	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.57	4.61	0.57282	.	0.056232	0.64402	D	0.000001	D	0.82688	0.5091	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.996;0.976;0.996	D	0.84694	0.0724	10	0.56958	D	0.05	-17.2318	14.7517	0.69530	0.0:0.0:0.8456:0.1544	.	321;284;274;284;208	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	C	284;341;284;284;208;321	ENSP00000389575:R284C;ENSP00000419760:R341C;ENSP00000416396:R284C;ENSP00000344537:R284C;ENSP00000407980:R208C;ENSP00000399982:R321C	ENSP00000344537:R284C	R	-	1	0	TAF6	99547337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.433000	0.52834	2.618000	0.88619	0.561000	0.74099	CGT	TAF6	-	superfamily_ARM-type_fold	ENSG00000106290		0.572	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	-	0	69	0	G	NM_005641		99709401	-1	tier1	-	no_errors	ENST00000344095	ensembl	human	known	74_37	missense	28.57	55	22	SNP	1.000	A	A	99709401	G	A	99709401	3	1	58	1	0	0	0	0	1	0	0	0	15577	1087	38	1	1211	1	TAF6	7	99709401	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	624697	99709401	59429262	909	15292											
ZAN	7455	genome.wustl.edu	37	chr7	100350086	100350086	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaccatccccacagaaaaAcccaccattcccacagaaaa	17	3	2	19	0	0	2	0	0	0	2	2	2	2	2	7	0	1	0	7	0	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:100350086A>C	ENST00000348028.3	+	0	2523				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATTC	0.542																																																	0													195	221	213					7																	100350086		1865	4088	5953			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350086A>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.K786N	ENST00000348028.3	37	c.2358		7	.	.	.	.	.	.	.	.	.	.	a	9.780	1.174934	0.21704	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71934	-0.61;-0.34;-0.61	3.68	-3.53	0.04667	.	.	.	.	.	T	0.56891	0.2016	L	0.43923	1.385	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.49390	-0.8945	9	0.66056	D	0.02	.	5.8999	0.18960	0.604:0.0:0.2496:0.1463	.	786;786	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	786	ENSP00000445943:K786N;ENSP00000445091:K786N;ENSP00000444427:K786N	ENSP00000423579:K786N	K	+	3	2	ZAN	100188022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.315000	0.00012	-0.761000	0.04670	-1.007000	0.02485	AAA	ZAN	-	NULL	ENSG00000146839		0.542	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	48	0	A	NM_003386		100350086	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	46.15	28	24	SNP	0.000	C	C	100350086	A	C	100350086	1	2	58	0	1	0	0	0	0	0	0	0	17562	40	2	4		4	ZAN	7	100350086	RNA	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	640685	100350086	58788577	910	15293											
MUC17	140453	genome.wustl.edu	37	chr7	100685146	100685146	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttcaacaactcctgtTgacaccagcacacctgtgac	11	9	5	16	0	1	2	1	2	0	0	2	2	2	2	4	0	3	2	4	0	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:100685146T>G	ENST00000306151.4	+	3	10513	c.10449T>G	c.(10447-10449)gtT>gtG	p.V3483V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3483	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.493																																																	0													240	255	250					7																	100685146		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10449T>G	7.37:g.100685146T>G			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.V3483	ENST00000306151.4	37	c.10449	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	102	0	T	NM_001040105		100685146	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	silent	45.36	53	44	SNP	0.001	G	G	100685146	T	G	100685146	2	3	58	1	0	0	0	0	0	0	0	1	10012	1799	63	4		4	MUC17	7	100685146	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	335060	100685146	58453517	911	15294											
ZNHIT1	10467	genome.wustl.edu	37	chr7	100865942	100865942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgcccggcagcgtcGcatcaaccggcagctggagg	6	4	16	15	5	1	0	1	0	0	0	2	1	1	1	3	5	4	5	3	5	1	0	rs200966635		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:100865942G>A	ENST00000305105.2	+	2	608	c.80G>A	c.(79-81)cGc>cAc	p.R27H	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	27					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CGGCAGCGTCGCATCAACCGG	0.642																																																	0													45	50	48					7																	100865942		2203	4300	6503	SO:0001583	missense	0			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.80G>A	7.37:g.100865942G>A	ENSP00000304593:p.Arg27His		Q6IB12	Missense_Mutation	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.R27H	ENST00000305105.2	37	c.80	CCDS5716.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235471	0.79800	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.14	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.78456	2.415	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63328	-0.6662	9	0.72032	D	0.01	-23.7082	11.6088	0.51047	0.087:0.0:0.913:0.0	.	27	O43257	ZNHI1_HUMAN	H	27	.	ENSP00000304593:R27H	R	+	2	0	ZNHIT1	100652662	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.755000	0.85180	1.166000	0.42689	-0.311000	0.09066	CGC	ZNHIT1	-	NULL	ENSG00000106400		0.642	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT1	HGNC	protein_coding	OTTHUMT00000347488.1	-	0	95	0	G	NM_006349		100865942	1	tier1	rs200966635	no_errors	ENST00000305105	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	A	A	100865942	G	A	100865942	3	1	58	1	0	0	0	0	1	0	0	0	18254	1087	38	1	86	1	ZNHIT1	7	100865942	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	180796	100865942	58272721	912	15295											
MYL10	93408	genome.wustl.edu	37	chr7	101259565	101259565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgtggagaatggtctcCtctgggtccgtgcctataag	8	10	14	9	2	2	1	0	0	2	1	4	2	3	1	3	4	1	0	3	4	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:101259565C>A	ENST00000223167.4	-	6	645	c.468G>T	c.(466-468)gaG>gaT	p.E156D		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	156	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GAATGGTCTCCTCTGGGTCCG	0.587																																					Esophageal Squamous(24;575 709 17516 40384 51639)												0													107	85	92					7																	101259565		2203	4300	6503	SO:0001583	missense	0			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.468G>T	7.37:g.101259565C>A	ENSP00000223167:p.Glu156Asp			Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.E156D	ENST00000223167.4	37	c.468	CCDS34713.1	7	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593426	0.66219	.	.	ENSG00000106436	ENST00000223167	T	0.71934	-0.61	4.78	2.62	0.31277	EF-hand-like domain (1);	0.243076	0.31976	N	0.006762	T	0.79805	0.4509	M	0.79693	2.465	0.48975	D	0.999736	D	0.59357	0.985	D	0.63488	0.915	T	0.79247	-0.1882	10	0.72032	D	0.01	.	6.4962	0.22144	0.0:0.6914:0.0:0.3086	.	156	Q9BUA6	MYL10_HUMAN	D	156	ENSP00000223167:E156D	ENSP00000223167:E156D	E	-	3	2	MYL10	101046285	0.987000	0.35691	0.998000	0.56505	0.962000	0.63368	0.214000	0.17541	0.992000	0.38840	0.644000	0.83932	GAG	MYL10	-	pfscan_EF_hand_dom	ENSG00000106436		0.587	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL10	HGNC	protein_coding	OTTHUMT00000347575.1	-	0	108	0	C	NM_138403		101259565	-1	tier1	-	no_errors	ENST00000223167	ensembl	human	known	74_37	missense	37.08	56	33	SNP	1.000	A	A	101259565	C	A	101259565	3	1	58	1	0	0	0	0	1	0	0	0	10082	680	24	3	224	3	MYL10	7	101259565	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	393623	101259565	57879098	913	15296											
CDHR3	222256	genome.wustl.edu	37	chr7	105664829	105664829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctgttgttcaagccCagggtcacctatcaggtcct	6	13	9	13	0	4	0	3	0	1	0	6	0	5	0	3	2	2	3	3	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:105664829C>T	ENST00000317716.9	+	15	2159	c.2079C>T	c.(2077-2079)ccC>ccT	p.P693P	CDHR3_ENST00000343407.5_Nonsense_Mutation_p.Q196*|CDHR3_ENST00000542731.1_Silent_p.P693P|CDHR3_ENST00000478080.1_Silent_p.P605P|CDHR3_ENST00000470188.1_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	693	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGTTCAAGCCCAGGGTCACCT	0.478																																																	0													118	117	117					7																	105664829		1994	4174	6168	SO:0001819	synonymous_variant	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2079C>T	7.37:g.105664829C>T			Q8TCI7	Nonsense_Mutation	SNP	superfamily_Cadherin-like,pfscan_Cadherin	p.Q196*	ENST00000317716.9	37	c.586	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.641921	0.99443	.	.	ENSG00000128536	ENST00000343407;ENST00000466045	.	.	.	5.65	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9162	4.2102	0.10507	0.1559:0.5583:0.0:0.2857	.	.	.	.	X	196;235	.	ENSP00000341510:Q196X	Q	+	1	0	CDHR3	105452065	0.995000	0.38212	1.000000	0.80357	0.501000	0.33797	0.273000	0.18662	0.328000	0.23435	-0.136000	0.14681	CAG	CDHR3	-	NULL	ENSG00000128536		0.478	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0	107	0	C	NM_152750		105664829	1	tier1	-	no_errors	ENST00000343407	ensembl	human	known	74_37	nonsense	26.32	84	30	SNP	1.000	T	T	105664829	C	T	105664829	2	4	58	1	0	0	0	0	0	0	0	1	3127	581	21	3		3	CDHR3	7	105664829	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4405264	105664829	53473834	914	15297											
NAMPT	10135	genome.wustl.edu	37	chr7	105909653	105909653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaacttgtattccagacCatctaagttaccagaagttt	13	14	6	8	0	1	2	0	0	1	2	2	2	2	2	3	0	2	4	3	0	5	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:105909653C>A	ENST00000222553.3	-	5	860	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.G185C	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	185					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCAGACCATCTAAGTTA	0.378																																																	0													60	58	59					7																	105909653		2203	4296	6499	SO:0001583	missense	0			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"visfatin"	608764	"pre-B-cell colony enhancing factor 1"	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.553G>T	7.37:g.105909653C>A	ENSP00000222553:p.Gly185Cys		A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase	p.G185C	ENST00000222553.3	37	c.553	CCDS5737.1	7	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625312	0.66901	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	4.97	4.08	0.47627	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.334157	0.34652	N	0.003786	T	0.79730	0.4496	M	0.89214	3.015	0.50313	D	0.999868	D;D;D	0.69078	0.997;0.996;0.993	P;P;P	0.61328	0.848;0.887;0.786	T	0.82764	-0.0296	9	0.42905	T	0.14	-19.6525	15.6104	0.76713	0.0:0.8616:0.1384:0.0	.	98;166;185	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	C	185	.	ENSP00000222553:G185C	G	-	1	0	NAMPT	105696889	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.260000	0.51523	1.186000	0.42985	0.650000	0.86243	GGT	NAMPT	-	superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase	ENSG00000105835		0.378	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAMPT	HGNC	protein_coding	OTTHUMT00000277146.1	-	0	75	0	C	NM_182790		105909653	-1	tier1	-	no_errors	ENST00000222553	ensembl	human	known	74_37	missense	20.90	53	14	SNP	1.000	A	A	105909653	C	A	105909653	3	1	58	1	0	0	0	0	1	0	0	0	10187	594	21	3	950	3	NAMPT	7	105909653	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	244824	105909653	53229010	915	15298											
BCAP29	55973	genome.wustl.edu	37	chr7	107221266	107221266	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttctttatgccgaaataGgactcattttaatcttctgc	9	17	5	10	1	4	0	1	0	3	0	4	2	4	1	2	1	2	0	2	1	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:107221266G>T	ENST00000005259.4	+	2	388	c.49G>T	c.(49-51)Gga>Tga	p.G17*	BCAP29_ENST00000445771.2_Nonsense_Mutation_p.G17*|BCAP29_ENST00000379117.2_Nonsense_Mutation_p.G17*|BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000379119.2_Nonsense_Mutation_p.G17*|RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000465919.1_Intron	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	17					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						TGCCGAAATAGGACTCATTTT	0.363																																																	0													103	92	96					7																	107221266		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.49G>T	7.37:g.107221266G>T	ENSP00000005259:p.Gly17*		G5E9L4|O95003	Nonsense_Mutation	SNP	pfam_Bap31	p.G17*	ENST00000005259.4	37	c.49	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.612045	0.97705	.	.	ENSG00000075790	ENST00000005259;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000473124;ENST00000379119	.	.	.	4.63	4.63	0.57726	.	0.056410	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.8811	16.2143	0.82195	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000005259:G17X	G	+	1	0	BCAP29	107008502	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.886000	0.87288	2.548000	0.85928	0.655000	0.94253	GGA	BCAP29	-	pfam_Bap31	ENSG00000075790		0.363	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	-	0	33	0	G	NM_018844		107221266	1	tier1	-	no_errors	ENST00000379119	ensembl	human	known	74_37	nonsense	41.67	28	20	SNP	1.000	T	T	107221266	G	T	107221266	4	4	58	1	0	0	0	0	0	1	0	0	1347	1001	35	3	51	3	BCAP29	7	107221266	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1311613	107221266	51917397	916	15299											
LAMB4	22798	genome.wustl.edu	37	chr7	107703340	107703340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggcctgtgacattcGgcagacaaggacatgcacca	12	5	12	12	1	0	2	0	1	0	1	1	3	0	3	3	4	1	2	3	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:107703340G>A	ENST00000388781.3	-	23	3244	c.3161C>T	c.(3160-3162)cCg>cTg	p.P1054L	LAMB4_ENST00000205386.4_Missense_Mutation_p.P1054L|LAMB4_ENST00000388780.3_Missense_Mutation_p.P1054L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1054	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTGACATTCGGCAGACAAGG	0.592																																																	0													69	58	62					7																	107703340		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3161C>T	7.37:g.107703340G>A	ENSP00000373433:p.Pro1054Leu		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.P1054L	ENST00000388781.3	37	c.3161	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154086	0.38021	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.62639	1.3;1.3;0.01;0.01	5.12	2.17	0.27698	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.51477	D	0.000081	T	0.77928	0.4204	M	0.85197	2.74	0.24640	N	0.993576	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	T	0.69187	-0.5211	10	0.87932	D	0	.	10.0742	0.42351	0.231:0.0:0.769:0.0	.	1054;1054	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	L	1054;1054;80;1054	ENSP00000205386:P1054L;ENSP00000373433:P1054L;ENSP00000416562:P80L;ENSP00000373432:P1054L	ENSP00000205386:P1054L	P	-	2	0	LAMB4	107490576	0.736000	0.28164	0.020000	0.16555	0.231000	0.25187	1.861000	0.39438	0.352000	0.24053	0.650000	0.86243	CCG	LAMB4	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000091128		0.592	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	34	0	G	XM_209857		107703340	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.158	A	A	107703340	G	A	107703340	3	1	58	1	0	0	0	0	1	0	0	0	8641	1116	39	1	2172	1	LAMB4	7	107703340	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	482074	107703340	51435323	917	15300											
ZNF277	11179	genome.wustl.edu	37	chr7	111970237	111970237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagattaatcctaagaacaGagaatatgacagattttatg	18	12	7	4	0	0	5	0	1	0	4	1	6	1	5	1	0	1	0	1	0	7	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:111970237G>T	ENST00000361822.3	+	7	896	c.767G>T	c.(766-768)aGa>aTa	p.R256I	AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000450657.1_Missense_Mutation_p.R256I|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	256					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.R256K(1)|p.R256T(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCTAAGAACAGAGAATATGAC	0.338																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|breast(1)											103	102	102					7																	111970237		2203	4299	6502	SO:0001583	missense	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.767G>T	7.37:g.111970237G>T	ENSP00000354501:p.Arg256Ile		Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R256I	ENST00000361822.3	37	c.767	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345776	0.61073	.	.	ENSG00000198839	ENST00000361822;ENST00000425229;ENST00000450657	T;T;T	0.44881	0.91;0.91;0.91	6.17	3.37	0.38596	.	0.258733	0.43919	D	0.000516	T	0.38241	0.1033	L	0.46157	1.445	0.49798	D	0.999821	P;P	0.49783	0.831;0.928	B;P	0.45558	0.379;0.485	T	0.14448	-1.0472	10	0.44086	T	0.13	-10.2532	9.8423	0.41006	0.3369:0.0:0.6631:0.0	.	256;256	Q9NRM2;G5E9M4	ZN277_HUMAN;.	I	256;168;256	ENSP00000354501:R256I;ENSP00000390359:R168I;ENSP00000402292:R256I	ENSP00000354501:R256I	R	+	2	0	ZNF277	111757473	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.253000	0.32886	0.927000	0.37143	0.655000	0.94253	AGA	ZNF277	-	NULL	ENSG00000198839		0.338	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2		0	54	0	G	NM_021994		111970237	1			no_errors	ENST00000361822	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.948	T	T	111970237	G	T	111970237	3	4	58	1	0	0	0	0	1	0	0	0	17860	942	33	3	793	3	ZNF277	7	111970237	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4266897	111970237	47168426	918	15301											
C7orf58	79974	genome.wustl.edu	37	chr7	120704315	120704315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagattaccagaaatacaGcagccactttgcagaaagga	18	6	8	9	0	0	3	0	0	0	3	0	4	0	4	2	1	6	2	2	1	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:120704315G>A	ENST00000310396.5	+	5	1031	c.564G>A	c.(562-564)caG>caA	p.Q188Q	CPED1_ENST00000423795.1_5'UTR|CPED1_ENST00000450913.2_Silent_p.Q188Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	188						endoplasmic reticulum (GO:0005783)											CAGAAATACAGCAGCCACTTT	0.388																																																	0													101	102	101					7																	120704315		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.564G>A	7.37:g.120704315G>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.Q188	ENST00000310396.5	37	c.564	CCDS34739.1	7																																																																																			CPED1	-	NULL	ENSG00000106034		0.388	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	-	0	81	0	G	NM_024913		120704315	1	tier1	-	no_errors	ENST00000310396	ensembl	human	known	74_37	silent	37.21	53	32	SNP	1.000	A	A	120704315	G	A	120704315	2	1	58	1	0	0	0	0	0	0	0	1	2412	962	34	3		3	C7orf58	7	120704315	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8734078	120704315	38434348	919	15302											
WNT16	51384	genome.wustl.edu	37	chr7	120969811	120969811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaactgcatgatcaccGccgccgccactaccgccccg	8	5	10	18	5	1	1	1	1	0	0	1	3	1	2	7	1	3	1	7	1	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:120969811G>A	ENST00000222462.2	+	2	576	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	WNT16_ENST00000361301.2_Missense_Mutation_p.A86T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	96					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CATGATCACCGCCGCCGCCAC	0.662																																																	0													19	22	21					7																	120969811		2199	4285	6484	SO:0001583	missense	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"Wingless-type MMTV integration sites"	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.286G>A	7.37:g.120969811G>A	ENSP00000222462:p.Ala96Thr		Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.A96T	ENST00000222462.2	37	c.286	CCDS5781.1	7	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.965965	0.00461	.	.	ENSG00000002745	ENST00000361301;ENST00000222462;ENST00000414945	T;T	0.75821	-0.97;-0.97	1.53	-1.21	0.09524	.	0.689178	0.14184	N	0.335821	T	0.49626	0.1568	N	0.16266	0.395	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.21177	-1.0253	10	0.21540	T	0.41	.	3.7348	0.08507	0.3158:0.4054:0.2788:0.0	.	96;86	Q9UBV4;E9PH60	WNT16_HUMAN;.	T	86;96;37	ENSP00000355065:A86T;ENSP00000222462:A96T	ENSP00000222462:A96T	A	+	1	0	WNT16	120757047	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.689000	0.05144	-1.037000	0.03283	-1.031000	0.02408	GCC	WNT16	-	pfam_Wnt,smart_Wnt,prints_Wnt16	ENSG00000002745		0.662	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	-	0	73	0	G	NM_057168		120969811	1	tier1	-	no_errors	ENST00000222462	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.000	A	A	120969811	G	A	120969811	3	1	58	1	0	0	0	0	1	0	0	0	17434	1087	38	1	361	1	WNT16	7	120969811	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	265496	120969811	38168852	920	15303											
IQUB	154865	genome.wustl.edu	37	chr7	123092969	123092969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatcttgtgaataaatgagCgttcatatccctgcaaagaa	14	12	8	7	1	2	4	1	3	1	1	3	4	3	4	1	0	2	2	1	0	6	4	rs1525626	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:123092969C>T	ENST00000466202.1	-	13	2780	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	IQUB_ENST00000324698.6_Missense_Mutation_p.R735H	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	735			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> P (in dbSNP:rs1525626).		cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.R735H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AATAAATGAGCGTTCATATCC	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											65	61	62					7																	123092969		2202	4299	6501	SO:0001583	missense	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2204G>A	7.37:g.123092969C>T	ENSP00000417769:p.Arg735His		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.R735H	ENST00000466202.1	37	c.2204	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	C	3.763	-0.049275	0.07407	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.29917	1.55;1.55	6.05	-0.932	0.10435	.	0.999767	0.08091	N	0.999373	T	0.15522	0.0374	N	0.12182	0.205	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.27262	-1.0079	9	0.36615	T	0.2	.	5.688	0.17813	0.0584:0.2876:0.3429:0.3111	.	735	Q8NA54	IQUB_HUMAN	H	735	ENSP00000417769:R735H;ENSP00000324882:R735H	ENSP00000324882:R735H	R	-	2	0	IQUB	122880205	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.378000	0.07446	-0.494000	0.06669	-1.132000	0.01976	CGC	IQUB	-	NULL	ENSG00000164675		0.353	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1	-	0	24	0	C	NM_178827		123092969	-1	tier1	-	no_errors	ENST00000324698	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.000	T	T	123092969	C	T	123092969	3	4	58	1	0	0	0	0	1	0	0	0	7847	768	27	1	175	1	IQUB	7	123092969	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2123158	123092969	36045694	921	15304											
HYAL4	23553	genome.wustl.edu	37	chr7	123509154	123509154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagtgaaaacattttgcGcttctccaaatttcgggtgc	11	12	9	9	2	1	2	0	1	1	1	3	2	1	2	1	1	3	1	1	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:123509154G>A	ENST00000223026.4	+	3	1465	c.827G>A	c.(826-828)cGc>cAc	p.R276H	HYAL4_ENST00000476325.1_Missense_Mutation_p.R276H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	276					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AACATTTTGCGCTTCTCCAAA	0.453																																																	0													75	72	73					7																	123509154		2203	4300	6503	SO:0001583	missense	0			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.827G>A	7.37:g.123509154G>A	ENSP00000223026:p.Arg276His		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.R276H	ENST00000223026.4	37	c.827	CCDS5789.1	7	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089151	0.07097	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.22134	1.97;1.97	5.89	-3.62	0.04543	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.433780	0.27016	N	0.021355	T	0.06917	0.0176	N	0.10685	0.025	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.10450	0.003;0.005	T	0.28776	-1.0033	9	.	.	.	0.0211	5.1939	0.15225	0.4449:0.0:0.2563:0.2988	.	276;276	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	H	276	ENSP00000223026:R276H;ENSP00000417186:R276H	.	R	+	2	0	HYAL4	123296390	0.012000	0.17670	0.011000	0.14972	0.004000	0.04260	-0.202000	0.09451	-0.724000	0.04908	-0.119000	0.15052	CGC	HYAL4	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000106302		0.453	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1	-	0	35	0	G	NM_012269		123509154	1	tier1	-	no_errors	ENST00000223026	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.044	A	A	123509154	G	A	123509154	3	1	58	1	0	0	0	0	1	0	0	0	7493	1087	38	1	829	1	HYAL4	7	123509154	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	416185	123509154	35629509	922	15305											
GPR37	2861	genome.wustl.edu	37	chr7	124387326	124387326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcgtagtacatctgtacGttggtggcagcacggaagcg	9	11	13	8	4	1	0	0	0	1	0	2	1	1	1	0	3	4	6	0	3	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:124387326G>A	ENST00000303921.2	-	2	1745	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	365					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACATCTGTACGTTGGTGGCAG	0.468																																																	0													76	75	75					7																	124387326		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"GPCR / Class A : Orphans"	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1095C>T	7.37:g.124387326G>A			A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.N365	ENST00000303921.2	37	c.1095	CCDS5792.1	7																																																																																			GPR37	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170775		0.468	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	-	0	118	0	G	NM_005302		124387326	-1	tier1	-	no_errors	ENST00000303921	ensembl	human	known	74_37	silent	32.99	64	32	SNP	0.998	A	A	124387326	G	A	124387326	2	1	58	1	0	0	0	0	0	0	0	1	6717	1136	40	1		1	GPR37	7	124387326	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	878172	124387326	34751337	923	15306											
POT1	25913	genome.wustl.edu	37	chr7	124493078	124493078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcaagaccctgattccccGaccgtaactggtacctccat	9	9	8	15	2	0	2	0	1	0	1	2	3	2	2	6	2	2	3	6	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:124493078G>A	ENST00000357628.3	-	10	1415	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	POT1_ENST00000393329.1_Missense_Mutation_p.R142W	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	273	DNA binding.		R -> L (in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres). {ECO:0000269|PubMed:24686849}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTGATTCCCCGACCGTAACTG	0.363																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													113	107	109					7																	124493078		2203	4300	6503	SO:0001583	missense	0			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.817C>T	7.37:g.124493078G>A	ENSP00000350249:p.Arg273Trp		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.R273W	ENST00000357628.3	37	c.817	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416385	0.83449	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.73789	-0.27;-0.78	6.07	5.18	0.71444	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.79475	2.455	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.87748	0.2590	10	0.87932	D	0	-12.026	14.3583	0.66752	0.0:0.0:0.8508:0.1492	.	273	Q9NUX5	POTE1_HUMAN	W	273;142;273;273;273;272	ENSP00000350249:R273W;ENSP00000377002:R142W	ENSP00000265391:R272W	R	-	1	2	POT1	124280314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.411000	0.59781	1.535000	0.49220	0.655000	0.94253	CGG	POT1	-	superfamily_NA-bd_OB-fold	ENSG00000128513		0.363	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	-	0	63	0	G			124493078	-1	tier1	-	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A	A	124493078	G	A	124493078	3	1	58	1	0	0	0	0	1	0	0	0	12299	1057	37	1	1127	1	POT1	7	124493078	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	105752	124493078	34645585	924	15307											
SND1	27044	genome.wustl.edu	37	chr7	127714589	127714589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcatggacaaggccggCaactttatcggctggctgca	10	7	14	10	2	0	1	0	0	0	1	1	3	0	2	1	5	3	5	1	5	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:127714589C>T	ENST00000354725.3	+	17	2009	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	605	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACAAGGCCGGCAACTTTATCG	0.647																																																	0													101	63	76					7																	127714589		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1815C>T	7.37:g.127714589C>T			Q13122|Q96AG0	Silent	SNP	pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.G605	ENST00000354725.3	37	c.1815	CCDS34747.1	7																																																																																			SND1	-	pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold	ENSG00000197157		0.647	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	-	0	30	0	C	NM_014390		127714589	1	tier1	-	no_errors	ENST00000354725	ensembl	human	known	74_37	silent	52.38	10	11	SNP	1.000	T	T	127714589	C	T	127714589	2	4	58	1	0	0	0	0	0	0	0	1	14889	697	25	3		3	SND1	7	127714589	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3221511	127714589	31424074	925	15308											
IMPDH1	3614	genome.wustl.edu	37	chr7	128035269	128035269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgggcacaccaaagcGccgggcatactcagccacct	11	6	10	14	2	1	1	1	1	0	0	1	1	1	1	4	2	3	2	4	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:128035269G>T	ENST00000480861.1	-	10	1128	c.1051C>A	c.(1051-1053)Cgc>Agc	p.R351S	IMPDH1_ENST00000419067.2_Missense_Mutation_p.R408S|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R331S|IMPDH1_ENST00000338791.6_Missense_Mutation_p.R441S|IMPDH1_ENST00000378717.4_Missense_Mutation_p.R372S|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R355S|IMPDH1_ENST00000348127.6_Missense_Mutation_p.R405S|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R331S|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R431S	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ACACCAAAGCGCCGGGCATAC	0.632																																																	0													51	53	52					7																	128035269		2203	4300	6503	SO:0001583	missense	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"retinitis pigmentosa 10 (autosomal dominant)", "IMP (inosine monophosphate) dehydrogenase 1"	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1051C>A	7.37:g.128035269G>T	ENSP00000420185:p.Arg351Ser			Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.R441S	ENST00000480861.1	37	c.1321	CCDS55161.1	7	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870897	0.51695	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.15	5.15	0.70609	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	L	0.53617	1.68	0.80722	D	1	P;B;B;B;B;B;B;B	0.36753	0.568;0.028;0.12;0.04;0.218;0.165;0.198;0.023	B;B;B;B;B;B;B;B	0.35770	0.21;0.072;0.15;0.103;0.103;0.062;0.103;0.043	T	0.75833	-0.3178	10	0.72032	D	0.01	-12.9653	11.2683	0.49122	0.0:0.0:0.8177:0.1823	.	408;351;356;372;431;405;441;331	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	S	408;441;331;431;372;405;331;355;351	ENSP00000399400:R408S;ENSP00000345096:R441S;ENSP00000420803:R331S;ENSP00000346219:R431S;ENSP00000367989:R372S;ENSP00000265385:R405S;ENSP00000342438:R331S;ENSP00000417296:R355S;ENSP00000420185:R351S	ENSP00000345096:R441S	R	-	1	0	IMPDH1	127822505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.250000	0.43178	2.409000	0.81822	0.561000	0.74099	CGC	IMPDH1	-	pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,tigrfam_IMP_DH	ENSG00000106348		0.632	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	-	0	63	0	G	NM_000883		128035269	-1	tier1	-	no_errors	ENST00000338791	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	128035269	G	T	128035269	3	4	58	1	0	0	0	0	1	0	0	0	7753	1087	38	2	498	2	IMPDH1	7	128035269	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	320680	128035269	31103394	926	15309											
CCDC136	64753	genome.wustl.edu	37	chr7	128455793	128455794	+	Frame_Shift_Del	DEL	GT	GT	-																															aaagaggaagcaaaggagcaGtgtggggatgagctagttgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:128455793_128455794delGT	ENST00000297788.4	+	16	3538_3539	c.3171_3172delGT	c.(3169-3174)cagtgtfs	p.C1058fs	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1058	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						caaaggagcagTGTGGGGATGA	0.47																																																	0																																										SO:0001589	frameshift_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3171_3172delGT	7.37:g.128455795_128455796delGT	ENSP00000297788:p.Cys1058fs		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Del	DEL	NULL	p.C1058fs	ENST00000297788.4	37	c.3171_3172	CCDS47704.1	7																																																																																			CCDC136	-	NULL	ENSG00000128596		0.47	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1		0	45	0	GT	NM_022742		128455794	1	tier1		no_errors	ENST00000297788	ensembl	human	known	74_37	frame_shift_del	32.50	27	13	DEL	0.000:0.000	-	-	128455794	GT	-	128455793	7	5	58	1	0	1	0	1	0	0	0	0	2777	1020	36	0	3233	0	CCDC136	7	128455793	Frame_Shift_Del	DEL	GT	TCGA-L5-A4OI-01A-11D-A27G-09	420524	128455793	30682870	927	15310											
ZC3HC1	51530	genome.wustl.edu	37	chr7	129688937	129688937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccaatgaaggttgttccGcttggggtgatccattaact	9	14	10	8	1	0	2	0	2	0	0	3	2	3	2	3	3	1	3	3	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:129688937G>A	ENST00000358303.4	-	2	278	c.194C>T	c.(193-195)gCg>gTg	p.A65V	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A65V|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A65V|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A44V	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	65					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AGGTTGTTCCGCTTGGGGTGA	0.408																																					Melanoma(115;540 1606 16325 28853 48167)												0													193	178	183					7																	129688937		2203	4300	6503	SO:0001583	missense	0			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.194C>T	7.37:g.129688937G>A	ENSP00000351052:p.Ala65Val		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	pfam_Znf_C3HC-like,pfam_NIPA/Rsm1	p.A65V	ENST00000358303.4	37	c.194	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	g	2.720	-0.266844	0.05754	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.48836	1.43;0.84;1.45;0.8	5.72	1.77	0.24775	.	0.865763	0.10107	N	0.715187	T	0.28928	0.0718	N	0.24115	0.695	0.21473	N	0.999674	B	0.24426	0.103	B	0.13407	0.009	T	0.22765	-1.0207	10	0.51188	T	0.08	-0.2497	2.932	0.05802	0.2103:0.1231:0.5398:0.1269	.	65	Q86WB0	NIPA_HUMAN	V	65;65;44;65;65	ENSP00000351052:A65V;ENSP00000353933:A65V;ENSP00000309301:A44V;ENSP00000418533:A65V	ENSP00000309301:A44V	A	-	2	0	ZC3HC1	129476173	0.274000	0.24191	0.459000	0.27081	0.401000	0.30781	0.486000	0.22340	0.050000	0.15949	-0.967000	0.02615	GCG	ZC3HC1	-	NULL	ENSG00000091732		0.408	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	HGNC	protein_coding	OTTHUMT00000349316.1	-	0	79	0	G	NM_016478		129688937	-1	tier1	-	no_errors	ENST00000358303	ensembl	human	known	74_37	missense	37.80	51	31	SNP	0.967	A	A	129688937	G	A	129688937	3	1	58	1	0	0	0	0	1	0	0	0	17625	1087	38	1	1350	1	ZC3HC1	7	129688937	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1233144	129688937	29449726	928	15311											
EXOC4	60412	genome.wustl.edu	37	chr7	133059721	133059721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatcaaactgtatgatatgGcagatgtatgggtgaagatc	14	12	11	4	0	1	4	1	2	0	2	2	4	1	4	0	2	1	3	0	2	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:133059721G>T	ENST00000253861.4	+	7	1176	c.1147G>T	c.(1147-1149)Gca>Tca	p.A383S	EXOC4_ENST00000393161.2_Missense_Mutation_p.A383S|EXOC4_ENST00000539845.1_Missense_Mutation_p.A282S	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	383					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTATGATATGGCAGATGTATG	0.438																																																	0													114	103	107					7																	133059721		2203	4300	6503	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1147G>T	7.37:g.133059721G>T	ENSP00000253861:p.Ala383Ser		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.A383S	ENST00000253861.4	37	c.1147	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474538	0.43942	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000546185;ENST00000539845	.	.	.	6.03	6.03	0.97812	.	0.051710	0.85682	D	0.000000	T	0.52645	0.1747	L	0.44542	1.39	0.80722	D	1	B;B	0.27559	0.181;0.009	B;B	0.26969	0.075;0.006	T	0.46871	-0.9160	9	0.09590	T	0.72	.	15.6349	0.76944	0.0:0.1368:0.8632:0.0	.	383;383	Q96A65;Q8TAR2	EXOC4_HUMAN;.	S	383;383;2;282	.	ENSP00000253861:A383S	A	+	1	0	EXOC4	132710261	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.187000	0.77730	2.868000	0.98415	0.557000	0.71058	GCA	EXOC4	-	NULL	ENSG00000131558		0.438	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	-	0	48	0	G	NM_021807		133059721	1	tier1	-	no_errors	ENST00000253861	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	T	T	133059721	G	T	133059721	3	4	58	1	0	0	0	0	1	0	0	0	5322	1203	42	3	1173	3	EXOC4	7	133059721	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3370784	133059721	26078942	929	15312											
AKR1B15	441282	genome.wustl.edu	37	chr7	134261164	134261165	+	Frame_Shift_Ins	INS	-	-	A																															aggagattgctgcaaagcacINSaaaaaaaccacagcccaggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:134261164_134261165insA	ENST00000457545.2	+	9	1067_1068	c.807_808insA	c.(808-810)aaafs	p.K270fs	AKR1B15_ENST00000423958.1_Frame_Shift_Ins_p.K242fs	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	270							oxidoreductase activity (GO:0016491)	p.H269Q(2)|p.H241Q(2)|p.H287Q(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGCAAAGCACAAAAAAACCAC	0.446																																																	6	Substitution - Missense(6)	lung(6)																																								SO:0001589	frameshift_variant	0				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"Aldo-keto reductases"	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.814dupA	7.37:g.134261171_134261171dupA	ENSP00000389289:p.Lys270fs		C9J3V2	Frame_Shift_Ins	INS	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.T243fs	ENST00000457545.2	37	c.723_724	CCDS47715.2	7																																																																																			AKR1B15	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000227471		0.446	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	AKR1B15	HGNC	protein_coding	OTTHUMT00000339726.2		0	72	0	-			134261165	1	tier1		no_errors	ENST00000423958	ensembl	human	known	74_37	frame_shift_ins	44.62	36	29	INS	1.000:1.000	A	A	134261165	-	A	134261164	7	5	58	1	0	1	1	0	0	0	0	0	468	477	17	0	833	0	AKR1B15	7	134261164	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1201443	134261164	24877499	930	15313											
DGKI	9162	genome.wustl.edu	37	chr7	137257514	137257514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacaaacagagcctacctgGgtatatttaaaaatactata	18	11	5	7	0	0	1	0	0	0	1	0	1	0	1	2	1	5	1	2	1	11	9			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:137257514G>T	ENST00000288490.5	-	18	1832	c.1832C>A	c.(1831-1833)cCc>cAc	p.P611H	DGKI_ENST00000453654.2_Missense_Mutation_p.P311H|DGKI_ENST00000446122.1_Missense_Mutation_p.P611H|DGKI_ENST00000424189.2_Missense_Mutation_p.P611H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	611					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGCCTACCTGGGTATATTTAA	0.363																																																	0													99	104	102					7																	137257514		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1832C>A	7.37:g.137257514G>T	ENSP00000288490:p.Pro611His		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P611H	ENST00000288490.5	37	c.1832	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700261	0.88924	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.49720	0.77;0.77;0.77	5.44	5.44	0.79542	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.70421	-0.4876	10	0.87932	D	0	.	18.8798	0.92352	0.0:0.0:1.0:0.0	.	311;611	E9PFX6;O75912	.;DGKI_HUMAN	H	311;559;611;611;611	ENSP00000392161:P311H;ENSP00000288490:P611H;ENSP00000399131:P611H	ENSP00000288490:P611H	P	-	2	0	DGKI	136908054	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.349000	0.97066	2.563000	0.86464	0.557000	0.71058	CCC	DGKI	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000157680		0.363	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3		0	28	0	G	NM_004717		137257514	-1			no_errors	ENST00000288490	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	137257514	G	T	137257514	3	4	58	1	0	0	0	0	1	0	0	0	4485	1232	43	3	1433	3	DGKI	7	137257514	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2996350	137257514	21881149	931	15314											
SVOPL	136306	genome.wustl.edu	37	chr7	138333812	138333812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgacgcgaatgagccagCgccacccgatggtggggatg	9	4	17	11	5	0	1	0	1	0	0	0	5	0	2	3	4	2	0	3	4	1	0	rs151301864		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138333812C>T	ENST00000419765.3	-	7	638	c.605G>A	c.(604-606)cGc>cAc	p.R202H	SVOPL_ENST00000421622.1_Missense_Mutation_p.R82H|SVOPL_ENST00000288513.5_Missense_Mutation_p.R50H|SVOPL_ENST00000436657.1_Missense_Mutation_p.R50H	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	202						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AATGAGCCAGCGCCACCCGAT	0.592																																																	0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	74	67	69		605,149	5.1	1	7	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	SVOPL	NM_001139456.1,NM_174959.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	202/493,50/341	138333812	1,13005	2203	4300	6503	SO:0001583	missense	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.605G>A	7.37:g.138333812C>T	ENSP00000405482:p.Arg202His			Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R50H	ENST00000419765.3	37	c.149	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309829	0.60414	2.27E-4	0.0	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.145941	0.53938	D	0.000060	D	0.84951	0.5586	M	0.90309	3.105	0.47698	D	0.99949	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86875	0.2038	10	0.46703	T	0.11	-15.5726	17.3103	0.87207	0.0:1.0:0.0:0.0	.	202;50	Q8N434;Q8N434-2	SVOPL_HUMAN;.	H	50;82;50;202	ENSP00000288513:R50H;ENSP00000412830:R82H;ENSP00000417018:R50H;ENSP00000405482:R202H	ENSP00000288513:R50H	R	-	2	0	SVOPL	137984352	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	4.438000	0.59961	2.370000	0.80446	0.467000	0.42956	CGC	SVOPL	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157703		0.592	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4		0	83	0	C	NM_174959		138333812	-1			no_errors	ENST00000288513	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	138333812	C	T	138333812	3	4	58	1	0	0	0	0	1	0	0	0	15471	768	27	1	909	1	SVOPL	7	138333812	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1076298	138333812	20804851	932	15315											
ATP6V0A4	50617	genome.wustl.edu	37	chr7	138413561	138413561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaatcagaagcatccacGgcacagaaatcaaagccata	17	6	7	11	1	2	2	2	0	0	2	3	2	3	2	2	1	2	3	2	1	5	2	rs149289710		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138413561G>T	ENST00000310018.2	-	18	2237	c.1955C>A	c.(1954-1956)cCg>cAg	p.P652Q	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.P652Q|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.P652Q	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	652					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAGCATCCACGGCACAGAAAT	0.433																																																	0													202	191	195					7																	138413561		2203	4300	6503	SO:0001583	missense	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1955C>A	7.37:g.138413561G>T	ENSP00000308122:p.Pro652Gln		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.P652Q	ENST00000310018.2	37	c.1955	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530775	0.85706	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.88509	-2.39;-2.39;-2.39	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97891	1.0297	10	0.87932	D	0	-28.1678	19.7969	0.96490	0.0:0.0:1.0:0.0	.	652	Q9HBG4	VPP4_HUMAN	Q	652	ENSP00000308122:P652Q;ENSP00000376774:P652Q;ENSP00000253856:P652Q	ENSP00000308122:P652Q	P	-	2	0	ATP6V0A4	138064101	1.000000	0.71417	0.966000	0.40874	0.902000	0.53008	7.916000	0.87491	2.679000	0.91253	0.650000	0.86243	CCG	ATP6V0A4	-	pfam_V-ATPase_116kDa_su	ENSG00000105929		0.433	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	-	0	36	0	G	NM_020632		138413561	-1	tier1	-	no_errors	ENST00000310018	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.998	T	T	138413561	G	T	138413561	3	4	58	1	0	0	0	0	1	0	0	0	1171	1116	39	2	587	2	ATP6V0A4	7	138413561	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	79749	138413561	20725102	933	15316											
ATP6V0A4	50617	genome.wustl.edu	37	chr7	138417705	138417705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgaggatgctgggggCgtgctgagatacatggacgt	8	9	19	5	2	0	2	0	2	0	1	0	6	0	5	0	5	3	2	0	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138417705C>T	ENST00000310018.2	-	17	2107	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A609T|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A609T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	609					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCTGGGGGCGTGCTGAGAT	0.413																																																	0													124	115	118					7																	138417705		2203	4300	6503	SO:0001583	missense	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"ATPases / V-type"	866	protein-coding gene	gene with protein product		605239	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 4", "ATPase, H+ transporting, lysosomal V0 subunit A4"	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1825G>A	7.37:g.138417705C>T	ENSP00000308122:p.Ala609Thr		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.A609T	ENST00000310018.2	37	c.1825	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.279077	0.95489	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86865	-2.18;-2.18;-2.18	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94569	0.7769	10	0.72032	D	0.01	-24.2779	19.9598	0.97242	0.0:1.0:0.0:0.0	.	609	Q9HBG4	VPP4_HUMAN	T	609	ENSP00000308122:A609T;ENSP00000376774:A609T;ENSP00000253856:A609T	ENSP00000308122:A609T	A	-	1	0	ATP6V0A4	138068245	1.000000	0.71417	0.408000	0.26446	0.849000	0.48306	7.813000	0.86123	2.716000	0.92895	0.655000	0.94253	GCC	ATP6V0A4	-	pfam_V-ATPase_116kDa_su	ENSG00000105929		0.413	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	-	0	61	0	C	NM_020632		138417705	-1	tier1	-	no_errors	ENST00000310018	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	138417705	C	T	138417705	3	4	58	1	0	0	0	0	1	0	0	0	1171	768	27	1	721	1	ATP6V0A4	7	138417705	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4144	138417705	20720958	934	15317											
KIAA1549	57670	genome.wustl.edu	37	chr7	138603524	138603524	+	Frame_Shift_Del	DEL	A	A	-																															gcattaaagaccgggagcttAaaaaaagggtggtttccaca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138603524delA	ENST00000422774.1	-	2	896	c.848delT	c.(847-849)ttafs	p.L283fs	KIAA1549_ENST00000242365.4_Frame_Shift_Del_p.L233fs|KIAA1549_ENST00000440172.1_Frame_Shift_Del_p.L283fs			Q9HCM3	K1549_HUMAN	KIAA1549	283						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGAGCTTAAAAAAAGGGT	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													34	35	35					7																	138603524		1847	4087	5934	SO:0001589	frameshift_variant	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.848delT	7.37:g.138603524delA	ENSP00000416040:p.Leu283fs		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Frame_Shift_Del	DEL	NULL	p.L283fs	ENST00000422774.1	37	c.848	CCDS56513.1	7																																																																																			KIAA1549	-	NULL	ENSG00000122778		0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1		0	24	0	A			138603524	-1	tier1		no_errors	ENST00000422774	ensembl	human	known	74_37	frame_shift_del	26.09	17	6	DEL	0.001	-	-	138603524	A	-	138603524	7	5	58	1	0	1	0	1	0	0	0	0	8271	372	13	0	5080	0	KIAA1549	7	138603524	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	185819	138603524	20535139	935	15318											
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138764917	138764917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgcaagaaattcttggCtgccctgaaagaaccgatct	13	8	9	11	2	2	4	0	1	2	3	2	5	2	4	2	1	2	2	2	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138764917C>T	ENST00000242351.5	-	4	1086	c.770G>A	c.(769-771)aGc>aAc	p.S257N	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S257N|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S257N	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	257					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAATTCTTGGCTGCCCTGAAA	0.507																																																	0													155	165	161					7																	138764917		2203	4300	6503	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.770G>A	7.37:g.138764917C>T	ENSP00000242351:p.Ser257Asn		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S257N	ENST00000242351.5	37	c.770	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660530	0.47572	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.33438	1.41;1.41;1.41	4.41	-1.16	0.09678	.	0.896444	0.09543	N	0.788049	T	0.38427	0.1040	L	0.52573	1.65	0.09310	N	1	D;P	0.76494	0.999;0.879	D;B	0.64877	0.93;0.35	T	0.27054	-1.0085	10	0.72032	D	0.01	.	1.4007	0.02270	0.1622:0.3271:0.3173:0.1934	.	257;257	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	N	257;257;257;17	ENSP00000242351:S257N;ENSP00000418385:S257N;ENSP00000419855:S257N	ENSP00000242351:S257N	S	-	2	0	ZC3HAV1	138415457	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-1.346000	0.02634	-0.043000	0.13513	0.655000	0.94253	AGC	ZC3HAV1	-	NULL	ENSG00000105939		0.507	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	-	0	58	0	C	NM_020119		138764917	-1	tier1	-	no_errors	ENST00000242351	ensembl	human	known	74_37	missense	47.92	25	23	SNP	0.000	T	T	138764917	C	T	138764917	3	4	58	1	0	0	0	0	1	0	0	0	17623	797	28	3	1982	3	ZC3HAV1	7	138764917	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	161393	138764917	20373746	936	15319											
ZC3HAV1	56829	genome.wustl.edu	37	chr7	138774372	138774372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggaatcacaacttacctCgggcataaaaaaaggatcac	17	7	8	9	1	2	1	2	1	0	0	3	3	2	3	1	3	2	1	1	3	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138774372C>T	ENST00000242351.5	-	2	758	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.E148K|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.E148K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	148	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAACTTACCTCGGGCATAAAA	0.393																																																	0													95	86	89					7																	138774372		2203	4300	6503	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	23721	protein-coding gene	gene with protein product	"zinc finger antiviral protein", " CCCH-type zinc finger antiviral protein"	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.442G>A	7.37:g.138774372C>T	ENSP00000242351:p.Glu148Lys		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E148K	ENST00000242351.5	37	c.442	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317334	0.81469	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.43294	0.95;0.95;0.95	4.21	4.21	0.49690	.	0.146160	0.31772	N	0.007100	T	0.61887	0.2383	M	0.79123	2.44	0.37589	D	0.920127	D;D	0.76494	0.999;0.999	D;D	0.67548	0.941;0.952	T	0.70299	-0.4910	10	0.66056	D	0.02	.	12.2544	0.54615	0.0:1.0:0.0:0.0	.	148;148	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	K	148	ENSP00000242351:E148K;ENSP00000418385:E148K;ENSP00000419855:E148K	ENSP00000242351:E148K	E	-	1	0	ZC3HAV1	138424912	0.995000	0.38212	0.988000	0.46212	0.983000	0.72400	4.092000	0.57707	2.337000	0.79520	0.650000	0.86243	GAG	ZC3HAV1	-	NULL	ENSG00000105939		0.393	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	-	0	23	0	C	NM_020119		138774372	-1	tier1	-	no_errors	ENST00000242351	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.995	T	T	138774372	C	T	138774372	3	4	58	1	0	0	0	0	1	0	0	0	17623	893	31	1	2318	1	ZC3HAV1	7	138774372	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	9455	138774372	20364291	937	15320											
PARP12	64761	genome.wustl.edu	37	chr7	139741628	139741628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtactggctgactcaGagcacaggatcctacagaag	14	6	12	9	0	1	3	1	1	0	2	2	5	2	4	1	3	3	3	1	3	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:139741628G>T	ENST00000263549.3	-	6	1871	c.998C>A	c.(997-999)tCt>tAt	p.S333Y	PARP12_ENST00000470515.1_5'Flank	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	333	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCTGACTCAGAGCACAGGAT	0.532																																																	0													113	104	107					7																	139741628		2203	4300	6503	SO:0001583	missense	0			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"Zinc fingers, CCCH-type domain containing", "Poly (ADP-ribose) polymerases"	21919	protein-coding gene	gene with protein product		612481	"zinc finger CCCH-type domain containing 1"	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.998C>A	7.37:g.139741628G>T	ENSP00000263549:p.Ser333Tyr		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S333Y	ENST00000263549.3	37	c.998	CCDS5857.1	7	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284907	0.23392	.	.	ENSG00000059378	ENST00000263549	T	0.06768	3.26	4.68	1.64	0.23874	WWE domain (1);	1.608660	0.03231	N	0.178916	T	0.09468	0.0233	L	0.43923	1.385	0.09310	N	1	B	0.18461	0.028	B	0.18263	0.021	T	0.35624	-0.9781	10	0.62326	D	0.03	.	4.3803	0.11290	0.2098:0.1879:0.6022:0.0	.	333	Q9H0J9	PAR12_HUMAN	Y	333	ENSP00000263549:S333Y	ENSP00000263549:S333Y	S	-	2	0	PARP12	139388097	0.045000	0.20229	0.000000	0.03702	0.001000	0.01503	2.466000	0.45084	0.519000	0.28406	-0.251000	0.11542	TCT	PARP12	-	pfscan_WWE-dom	ENSG00000059378		0.532	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	-	0	56	0	G	NM_022750		139741628	-1	tier1	-	no_errors	ENST00000263549	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	T	T	139741628	G	T	139741628	3	4	58	1	0	0	0	0	1	0	0	0	11496	942	33	3	1135	3	PARP12	7	139741628	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	967256	139741628	19397035	938	15321											
OR2A7	401427	genome.wustl.edu	37	chr7	143956190	143956190	+	Frame_Shift_Del	DEL	A	A	-																															gagaacagccaagatttcacAaaaaaagtgataaattttct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:143956190delA	ENST00000493325.1	-	1	625	c.532delT	c.(532-534)tgtfs	p.C178fs	OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|ARHGEF35_ENST00000543357.1_Intron	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AAGATTTCACAAAAAAAGTGA	0.458																																																	0													12	14	13					7																	143956190		1892	4005	5897	SO:0001589	frameshift_variant	0				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.532delT	7.37:g.143956190delA	ENSP00000420502:p.Cys178fs		B2RN57|Q6IFP4	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.C178fs	ENST00000493325.1	37	c.532	CCDS55177.1	7																																																																																			OR2A7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000243896		0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	HGNC	protein_coding	OTTHUMT00000349979.1		0	29	0	A			143956190	-1			no_errors	ENST00000493325	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	1.000	0	-	143956190	A	-	143956190	7	5	58	1	0	1	0	1	0	0	0	0	11021	130	5	0	403	0	OR2A7	7	143956190	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	4214562	143956190	15182473	939	15322											
ZNF425	155054	genome.wustl.edu	37	chr7	148802071	148802071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaacggccgctcccCgcggtgtagacacaggtgct	8	5	14	14	4	0	2	0	0	0	2	1	2	1	2	3	3	3	5	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:148802071C>T	ENST00000378061.2	-	4	1024	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	298					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCGCTCCCCGCGGTGTAGA	0.662																																																	0													42	40	41					7																	148802071		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.892G>A	7.37:g.148802071C>T	ENSP00000367300:p.Gly298Arg		B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.G298R	ENST00000378061.2	37	c.892	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042567	0.35989	.	.	ENSG00000204947	ENST00000378061	T	0.26223	1.75	3.66	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28267	0.0698	M	0.80982	2.52	0.09310	N	1	P	0.37731	0.607	B	0.33690	0.168	T	0.16958	-1.0385	9	0.72032	D	0.01	.	7.5541	0.27814	0.0:0.7617:0.0:0.2383	.	298	Q6IV72	ZN425_HUMAN	R	298	ENSP00000367300:G298R	ENSP00000367300:G298R	G	-	1	0	ZNF425	148433004	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.445000	0.06845	0.271000	0.22005	0.655000	0.94253	GGG	ZNF425	-	pfscan_Znf_C2H2	ENSG00000204947		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0	32	0	C	XM_088140		148802071	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.012	T	T	148802071	C	T	148802071	3	4	58	1	0	0	0	0	1	0	0	0	17947	652	23	1	1370	1	ZNF425	7	148802071	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4845881	148802071	10336592	940	15323											
SSPO	23145	genome.wustl.edu	37	chr7	149516520	149516520	+	RNA	DEL	C	C	-																															gccgcctgcgggcataccgtCcccctgggcccggcgggcac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:149516520delC	ENST00000378016.2	+	0	11923							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATACCGTCCCCCTGGGCC	0.711																																																	0													15	20	18					7																	149516520		1957	4123	6080			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516520delC			Q76B61	RNA	DEL	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.711	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0	19	0	C			149516520	1	tier1		no_errors	ENST00000378016	ensembl	human	known	74_37	rna	26.92	19	7	DEL	0.642	-	-	149516520	C	-	149516520	6	5	58	0	1	1	0	1	0	0	0	0	15236	855	30	0		0	SSPO	7	149516520	RNA	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	714449	149516520	9622143	941	15324											
KCNH2	3757	genome.wustl.edu	37	chr7	150647021	150647021	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagtgtctgtttgtggCggatcctgaagggaaggaga	12	9	15	5	1	1	2	0	1	1	1	2	5	2	4	1	4	0	1	1	4	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150647021C>T	ENST00000262186.5	-	9	2800				KCNH2_ENST00000430723.3_Missense_Mutation_p.R878H|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000392968.2_Intron	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTGTTTGTGGCGGATCCTGAA	0.537																																					GBM(137;110 1844 13671 20123 45161)												0													23	33	30					7																	150647021		1101	2181	3282	SO:0001627	intron_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2398+234G>A	7.37:g.150647021C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.R878H	ENST00000262186.5	37	c.2633	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	C	5.630	0.300985	0.10678	.	.	ENSG00000055118	ENST00000430723	D	0.99252	-5.63	3.06	-3.47	0.04753	.	.	.	.	.	D	0.93426	0.7903	N	0.08118	0	0.09310	N	1	P;B	0.44044	0.825;0.431	B;B	0.31614	0.133;0.038	D	0.91709	0.5380	9	0.62326	D	0.03	.	0.9758	0.01426	0.3553:0.1565:0.3317:0.1565	.	878;538	G5E9I0;Q708S9	.;.	H	878	ENSP00000387657:R878H	ENSP00000387657:R878H	R	-	2	0	KCNH2	150277954	0.000000	0.05858	0.009000	0.14445	0.103000	0.19146	-0.144000	0.10280	-0.846000	0.04174	-1.894000	0.00533	CGC	KCNH2	-	NULL	ENSG00000055118		0.537	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0	71	0	C	NM_000238		150647021	-1	tier1	-	no_errors	ENST00000430723	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.021	T	T	150647021	C	T	150647021	1	4	58	0	1	0	0	0	0	0	0	0	8059	768	27	1		1	KCNH2	7	150647021	Intron	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1130501	150647021	8491642	942	15325											
AGAP3	116988	genome.wustl.edu	37	chr7	150840884	150840884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactggcatatgctcgcCgggccggcagccaggagtgt	6	7	14	14	3	0	0	0	0	0	0	2	1	1	1	4	4	2	3	4	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150840884C>T	ENST00000463381.1	+	16	2093	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	AGAP3_ENST00000397238.2_Missense_Mutation_p.R864W	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	828	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATATGCTCGCCGGGCCGGCAG	0.627																																																	0													43	48	47					7																	150840884		1949	4141	6090	SO:0001583	missense	0			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1597C>T	7.37:g.150840884C>T	ENSP00000418016:p.Arg533Trp		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.R864W	ENST00000463381.1	37	c.2590		7	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174861	0.78564	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.67345	-0.26;-0.26	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.134329	0.49305	D	0.000149	T	0.75547	0.3864	L	0.37507	1.11	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.999	D;D;D;D	0.70716	0.93;0.97;0.963;0.91	T	0.77466	-0.2577	10	0.66056	D	0.02	.	18.2979	0.90153	0.0:1.0:0.0:0.0	.	828;363;864;533	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	W	533;363;864;828	ENSP00000418016:R533W;ENSP00000380413:R864W	ENSP00000334157:R828W	R	+	1	2	AGAP3	150471817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.888000	0.69758	2.541000	0.85698	0.655000	0.94253	CGG	AGAP3	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000133612		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351909.2	-	0	61	0	C	NM_031946		150840884	1	tier1	-	no_errors	ENST00000397238	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	150840884	C	T	150840884	3	4	58	1	0	0	0	0	1	0	0	0	369	643	23	1	2727	1	AGAP3	7	150840884	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	193863	150840884	8297779	943	15326											
CHPF2	54480	genome.wustl.edu	37	chr7	150932435	150932435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatgacacatatgtgcagGccccccgcctggcagccctt	8	7	11	15	1	0	1	0	1	0	0	0	2	0	2	5	3	2	2	5	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150932435G>C	ENST00000035307.2	+	2	2078	c.565G>C	c.(565-567)Gcc>Ccc	p.A189P	CHPF2_ENST00000495645.1_Missense_Mutation_p.A181P	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	189					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATATGTGCAGGCCCCCCGCCT	0.617																																																	0													91	93	92					7																	150932435		2203	4300	6503	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.565G>C	7.37:g.150932435G>C	ENSP00000035307:p.Ala189Pro		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.A189P	ENST00000035307.2	37	c.565	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248822	0.80024	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.27256	1.69;1.68	5.43	5.43	0.79202	.	0.047889	0.85682	D	0.000000	T	0.42404	0.1201	L	0.39467	1.215	0.80722	D	1	P;D	0.76494	0.747;0.999	B;D	0.69479	0.235;0.964	T	0.06826	-1.0805	9	.	.	.	-17.2153	18.255	0.90016	0.0:0.0:1.0:0.0	.	189;181	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	P	181;189;189	ENSP00000418914:A181P;ENSP00000035307:A189P	.	A	+	1	0	CHPF2	150563368	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.547000	0.85894	0.591000	0.81541	GCC	CHPF2	-	pfam_Fringe-like	ENSG00000033100		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0	57	0	G	NM_019015		150932435	1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	42.86	27	21	SNP	1.000	C	C	150932435	G	C	150932435	3	2	58	1	0	0	0	0	1	0	0	0	3376	1203	42	5	571	5	CHPF2	7	150932435	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	91551	150932435	8206228	944	15327											
CHPF2	54480	genome.wustl.edu	37	chr7	150935268	150935268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgaagtcctcaaccgctGtcgcatgaatgccatctctg	8	9	9	15	3	2	1	1	1	1	0	5	2	3	1	4	0	2	2	4	0	3	0	rs572673739		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150935268G>T	ENST00000035307.2	+	4	3333	c.1820G>T	c.(1819-1821)tGt>tTt	p.C607F	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.C599F	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	607					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCAACCGCTGTCGCATGAAT	0.592																																																	0													57	49	52					7																	150935268		2203	4300	6503	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1820G>T	7.37:g.150935268G>T	ENSP00000035307:p.Cys607Phe		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.C607F	ENST00000035307.2	37	c.1820	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439169	0.63067	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16897	2.31;2.31	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.51140	-0.8743	10	0.87932	D	0	-23.8513	16.8572	0.86009	0.0:0.0:1.0:0.0	.	607;599	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	F	599;607;607	ENSP00000418914:C599F;ENSP00000035307:C607F	ENSP00000035307:C607F	C	+	2	0	CHPF2	150566201	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.794000	0.85869	2.440000	0.82611	0.585000	0.79938	TGT	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.592	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0	34	0	G	NM_019015		150935268	1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	150935268	G	T	150935268	3	4	58	1	0	0	0	0	1	0	0	0	3376	1377	48	3	1834	3	CHPF2	7	150935268	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2833	150935268	8203395	945	15328											
CHPF2	54480	genome.wustl.edu	37	chr7	150935672	150935672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacggctcagtgaagaactcTaccaccgctgccgcctcagc	9	6	9	17	3	3	2	2	1	1	1	3	2	3	2	4	1	4	2	4	1	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150935672T>C	ENST00000035307.2	+	4	3737	c.2224T>C	c.(2224-2226)Tac>Cac	p.Y742H	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.Y734H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	742					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGAAGAACTCTACCACCGCTG	0.642																																																	0													30	28	29					7																	150935672		2202	4300	6502	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.2224T>C	7.37:g.150935672T>C	ENSP00000035307:p.Tyr742His		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.Y742H	ENST00000035307.2	37	c.2224	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155381	0.78114	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.17528	2.27;2.27	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.992;0.996	T	0.27088	-1.0084	10	0.56958	D	0.05	-16.8148	13.7365	0.62821	0.0:0.0:0.0:1.0	.	742;734	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	H	734;742	ENSP00000418914:Y734H;ENSP00000035307:Y742H	ENSP00000035307:Y742H	Y	+	1	0	CHPF2	150566605	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.018000	0.59344	0.533000	0.62120	TAC	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.642	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0	36	0	T	NM_019015		150935672	1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	C	C	150935672	T	C	150935672	3	2	58	1	0	0	0	0	1	0	0	0	3376	1522	53	4	2238	4	CHPF2	7	150935672	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	404	150935672	8202991	946	15329											
SMARCD3	6604	genome.wustl.edu	37	chr7	150938620	150938620	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatgtattccttgtcatgGgagtcctgcagcctgttggt	5	16	12	8	0	1	1	1	1	0	0	3	2	3	2	3	2	2	3	3	2	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150938620G>T	ENST00000262188.8	-	8	1307	c.897C>A	c.(895-897)tcC>tcA	p.S299S	SMARCD3_ENST00000356800.2_Silent_p.S286S|SMARCD3_ENST00000392811.2_Silent_p.S286S|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|RP4-548D19.3_ENST00000607902.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	299	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGTCATGGGAGTCCTGCA	0.592																																																	0													47	41	43					7																	150938620		2203	4300	6503	SO:0001819	synonymous_variant	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.897C>A	7.37:g.150938620G>T			D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.S299	ENST00000262188.8	37	c.897	CCDS34780.1	7																																																																																			SMARCD3	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	ENSG00000082014		0.592	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	-	0	69	0	G	NM_001003801		150938620	-1	tier1	-	no_errors	ENST00000262188	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.831	T	T	150938620	G	T	150938620	2	4	58	1	0	0	0	0	0	0	0	1	14824	1219	43	3		3	SMARCD3	7	150938620	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2948	150938620	8200043	947	15330											
NUB1	51667	genome.wustl.edu	37	chr7	151046320	151046320	+	Frame_Shift_Del	DEL	A	A	-																															gtgtttttaccaccaagactAaaaaaagtgagtaatttccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:151046320delA	ENST00000355851.4	+	3	356	c.279delA	c.(277-279)ctafs	p.L93fs	NUB1_ENST00000568733.1_Frame_Shift_Del_p.L117fs|NUB1_ENST00000566856.1_Frame_Shift_Del_p.L93fs|NUB1_ENST00000413040.2_Frame_Shift_Del_p.L117fs	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	93					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CACCAAGACTAAAAAAAGTGA	0.358																																																	0													97	94	95					7																	151046320		1825	4086	5911	SO:0001589	frameshift_variant	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"NEDD8 ultimate buster-1"	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.279delA	7.37:g.151046320delA	ENSP00000348110:p.Leu93fs		O95422|Q75MR9|Q8IX22|Q9BXR2	Frame_Shift_Del	DEL	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.D120fs	ENST00000355851.4	37	c.351		7																																																																																			NUB1	-	NULL	ENSG00000013374		0.358	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding			0	49	0	A	NM_016118		151046320	1	tier1		no_errors	ENST00000568733	ensembl	human	known	74_37	frame_shift_del	35.14	24	13	DEL	0.301	-	-	151046320	A	-	151046320	7	5	58	1	0	1	0	1	0	0	0	0	10753	349	13	0	285	0	NUB1	7	151046320	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	107700	151046320	8092343	948	15331											
NCAPG2	54892	genome.wustl.edu	37	chr7	158483385	158483385	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagaactctgtagttttcGttcagactcaggtaatgcat	12	14	8	7	1	3	2	2	0	1	2	4	2	3	2	0	1	2	5	0	1	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:158483385G>A	ENST00000409423.1	-	6	584	c.412C>T	c.(412-414)Cga>Tga	p.R138*	NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.R138*|NCAPG2_ENST00000479022.1_5'Flank|NCAPG2_ENST00000275830.10_5'Flank|NCAPG2_ENST00000409339.3_Nonsense_Mutation_p.R138*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.R138*	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	138					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGTAGTTTTCGTTCAGACTCA	0.388																																																	0													111	102	105					7																	158483385		1869	4099	5968	SO:0001587	stop_gained	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"leucine zipper protein 5"	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.412C>T	7.37:g.158483385G>A	ENSP00000386569:p.Arg138*		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.R138*	ENST00000409423.1	37	c.412	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.457918	0.97581	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	.	.	.	5.12	0.146	0.14833	.	1.769590	0.02542	N	0.094728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.0238	4.0035	0.09590	0.085:0.1162:0.2471:0.5518	.	.	.	.	X	138	.	ENSP00000348657:R138X	R	-	1	2	NCAPG2	158176146	0.228000	0.23718	0.002000	0.10522	0.946000	0.59487	0.613000	0.24299	0.203000	0.20529	0.585000	0.79938	CGA	NCAPG2	-	superfamily_ARM-type_fold	ENSG00000146918		0.388	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	-	0	43	0	G	NM_017760		158483385	-1	tier1	-	no_errors	ENST00000409339	ensembl	human	known	74_37	nonsense	34.69	32	17	SNP	0.004	A	A	158483385	G	A	158483385	4	1	58	1	0	0	0	0	0	1	0	0	10247	1153	40	1	3115	1	NCAPG2	7	158483385	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7437065	158483385	655278	949	15332											
FBXO25	26260	genome.wustl.edu	37	chr8	382898	382898	+	Frame_Shift_Del	DEL	A	A	-																															tattctaggtttttatcgtgAaaaatggatctatgtccata																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:382898delA	ENST00000276326.5	+	4	370	c.251delA	c.(250-252)gaafs	p.E84fs	FBXO25_ENST00000350302.3_Frame_Shift_Del_p.E84fs|FBXO25_ENST00000382824.1_Intron|FBXO25_ENST00000352684.2_Intron	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	84					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTTTATCGTGAAAAATGGATC	0.259																																																	0													31	31	31					8																	382898		2184	4264	6448	SO:0001589	frameshift_variant	0			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"F-boxes /  "other""	13596	protein-coding gene	gene with protein product		609098	"F-box only protein 25"			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.251delA	8.37:g.382898delA	ENSP00000276326:p.Glu84fs		Q6PJ83|Q7Z4V4|Q9UKB8	Frame_Shift_Del	DEL	superfamily_F-box_dom	p.K85fs	ENST00000276326.5	37	c.251	CCDS5953.1	8																																																																																			FBXO25	-	NULL	ENSG00000147364		0.259	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2		0	122	0	A	NM_012173		382898	1	tier1		no_errors	ENST00000276326	ensembl	human	known	74_37	frame_shift_del	20.62	154	40	DEL	1.000	-	-	382898	A	-	382898	7	5	58	1	0	1	0	1	0	0	0	0	5758	246	9	0	261	0	FBXO25	8	382898	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09		382898	145981124	950	15333											
CLN8	2055	genome.wustl.edu	37	chr8	1728667	1728667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatccggtggactggaacttCgcacagccagaagccaagag	13	5	12	11	2	0	2	0	0	0	2	2	4	1	4	3	3	3	1	3	3	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:1728667C>T	ENST00000331222.4	+	3	1042	c.795C>T	c.(793-795)ttC>ttT	p.F265F	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	265					adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ACTGGAACTTCGCACAGCCAG	0.577																																					Pancreas(155;338 1942 6138 10888 50612)												0													102	106	104					8																	1728667		2203	4300	6503	SO:0001819	synonymous_variant	0			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.795C>T	8.37:g.1728667C>T			Q86U71|Q96I95	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.F265	ENST00000331222.4	37	c.795	CCDS5956.1	8																																																																																			CLN8	-	NULL	ENSG00000182372		0.577	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN8	HGNC	protein_coding	OTTHUMT00000206715.2	-	0	33	0	C	NM_018941		1728667	1	tier1	-	no_errors	ENST00000331222	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.058	T	T	1728667	C	T	1728667	2	4	58	1	0	0	0	0	0	0	0	1	3553	883	31	1		1	CLN8	8	1728667	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1345769	1728667	144635355	951	15334											
MYOM2	9172	genome.wustl.edu	37	chr8	2044147	2044147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggccactccatgacccTcggctggaaggtcccgaaat	9	7	11	14	3	0	2	0	2	0	0	3	4	2	3	4	4	0	1	4	4	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:2044147T>C	ENST00000262113.4	+	18	2327	c.2186T>C	c.(2185-2187)cTc>cCc	p.L729P	MYOM2_ENST00000523438.1_Missense_Mutation_p.L154P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	729	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.L729H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCATGACCCTCGGCTGGAAG	0.572																																																	1	Substitution - Missense(1)	lung(1)											125	111	116					8																	2044147		2203	4300	6503	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2186T>C	8.37:g.2044147T>C	ENSP00000262113:p.Leu729Pro		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L729P	ENST00000262113.4	37	c.2186	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192610	0.78902	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.66995	-0.24;-0.24	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.88153	0.6360	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92367	0.5902	10	0.87932	D	0	.	15.5476	0.76118	0.0:0.0:0.0:1.0	.	729	P54296	MYOM2_HUMAN	P	729;154	ENSP00000262113:L729P;ENSP00000428396:L154P	ENSP00000262113:L729P	L	+	2	0	MYOM2	2031554	1.000000	0.71417	0.954000	0.39281	0.738000	0.42128	7.355000	0.79434	2.071000	0.62044	0.459000	0.35465	CTC	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000036448		0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	69	0	T	NM_003970		2044147	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	38.83	63	40	SNP	0.996	C	C	2044147	T	C	2044147	3	2	58	1	0	0	0	0	1	0	0	0	10130	1551	54	4	2252	4	MYOM2	8	2044147	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	315480	2044147	144319875	952	15335											
MYOM2	9172	genome.wustl.edu	37	chr8	2088683	2088683	+	Frame_Shift_Del	DEL	G	G	-																															ccagtgagcatatgagaatcGgggggagtgaagagatggct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:2088683delG	ENST00000262113.4	+	33	3979	c.3838delG	c.(3838-3840)gggfs	p.G1281fs	MYOM2_ENST00000523438.1_Frame_Shift_Del_p.G706fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1281					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TATGAGAATCGGGGGGAGTGA	0.448																																																	0													111	109	109					8																	2088683		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3838delG	8.37:g.2088683delG	ENSP00000262113:p.Gly1281fs		Q7Z3Y2	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1282fs	ENST00000262113.4	37	c.3838	CCDS5957.1	8																																																																																			MYOM2	-	NULL	ENSG00000036448		0.448	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1		0	42	0	G	NM_003970		2088683	1	tier1		no_errors	ENST00000262113	ensembl	human	known	74_37	frame_shift_del	20.37	43	11	DEL	1.000	-	-	2088683	G	-	2088683	7	5	58	1	0	1	0	1	0	0	0	0	10130	1116	39	0	3964	0	MYOM2	8	2088683	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	44536	2088683	144275339	953	15336											
MCPH1	79648	genome.wustl.edu	37	chr8	6479132	6479132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtcagccaagtcccccGccaggccagcatcgtcatcg	7	5	11	18	4	2	0	2	0	0	0	5	0	3	0	6	2	2	1	6	2	1	0	rs575272870		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:6479132G>A	ENST00000344683.5	+	13	2448	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	791	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAAGTCCCCCGCCAGGCCAGC	0.592																																					Colon(95;1448 1467 8277 34473 35819)												0													51	63	59					8																	6479132		2098	4216	6314	SO:0001583	missense	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2372G>A	8.37:g.6479132G>A	ENSP00000342924:p.Arg791His		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.R791H	ENST00000344683.5	37	c.2372	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	G	9.013	0.982944	0.18889	.	.	ENSG00000147316	ENST00000344683	D	0.89810	-2.57	5.38	0.256	0.15567	BRCT (3);	0.219054	0.37955	N	0.001878	T	0.79868	0.4520	L	0.39566	1.225	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.64326	-0.6434	10	0.30854	T	0.27	-3.3999	6.0533	0.19796	0.31:0.0:0.5533:0.1368	.	791	Q8NEM0	MCPH1_HUMAN	H	791	ENSP00000342924:R791H	ENSP00000342924:R791H	R	+	2	0	MCPH1	6466540	0.009000	0.17119	0.008000	0.14137	0.002000	0.02628	1.305000	0.33493	0.110000	0.17919	-0.251000	0.11542	CGC	MCPH1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000147316		0.592	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	-	0	107	0	G	NM_024596		6479132	1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	missense	28.45	82	33	SNP	0.000	A	A	6479132	G	A	6479132	3	1	58	1	0	0	0	0	1	0	0	0	9436	1087	38	1	2430	1	MCPH1	8	6479132	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4390449	6479132	139884890	954	15337											
RP1L1	94137	genome.wustl.edu	37	chr8	10468813	10468813	+	Frame_Shift_Del	DEL	C	C	-																															cctcctgcccctgggggcctCccccactcctcaaggtcttc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:10468813delC	ENST00000382483.3	-	4	3018	c.2795delG	c.(2794-2796)ggafs	p.G933fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	933					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGGGCCTCCCCCACTCCT	0.667																																																	0													28	35	33					8																	10468813		1983	4139	6122	SO:0001589	frameshift_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2795delG	8.37:g.10468813delC	ENSP00000371923:p.Gly933fs		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G932fs	ENST00000382483.3	37	c.2795	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1		0	62	0	C			10468813	-1	tier1		no_errors	ENST00000382483	ensembl	human	known	74_37	frame_shift_del	24.64	52	17	DEL	0.000	-	-	10468813	C	-	10468813	7	5	58	1	0	1	0	1	0	0	0	0	13578	855	30	0	4411	0	RP1L1	8	10468813	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	3989681	10468813	135895209	955	15338											
MTMR9	66036	genome.wustl.edu	37	chr8	11172559	11172560	+	Frame_Shift_Del	DEL	AG	AG	-																															gttttgaggccctgattgaaAgagagtggctgcaggtgaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:11172559_11172560delAG	ENST00000221086.3	+	7	1572_1573	c.1099_1100delAG	c.(1099-1101)agafs	p.R367fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.R282fs|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	367	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CCTGATTGAAAGAGAGTGGCTG	0.47																																																	0																																										SO:0001589	frameshift_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	14596	protein-coding gene	gene with protein product		606260	"myotubularin related protein 8"	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1099_1100delAG	8.37:g.11172563_11172564delAG	ENSP00000221086:p.Arg367fs		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	pfam_Myotubularin-like_Pase_dom	p.E368fs	ENST00000221086.3	37	c.1099_1100	CCDS5979.1	8																																																																																			MTMR9	-	NULL	ENSG00000104643		0.47	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2		0	81	0	AG	NM_015458		11172560	1	tier1		no_errors	ENST00000221086	ensembl	human	known	74_37	frame_shift_del	23.66	71	22	DEL	1.000:1.000	-	-	11172560	AG	-	11172559	7	5	58	1	0	1	0	1	0	0	0	0	9988	64	3	0	1125	0	MTMR9	8	11172559	Frame_Shift_Del	DEL	AG	TCGA-L5-A4OI-01A-11D-A27G-09	703746	11172559	135191463	956	15339											
BLK	640	genome.wustl.edu	37	chr8	11412845	11412845	+	Frame_Shift_Del	DEL	G	G	-																															ttcttccctaatgcagagaaGggggatggtctatgccagag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:11412845delG	ENST00000259089.4	+	8	1216	c.624delG	c.(622-624)aagfs	p.K208fs	BLK_ENST00000529894.1_Frame_Shift_Del_p.K137fs|RP11-148O21.3_ENST00000527922.1_RNA|RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	208	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATGCAGAGAAGGGGGATGGTC	0.617																																																	0													64	67	66					8																	11412845		2203	4300	6503	SO:0001589	frameshift_variant	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.624delG	8.37:g.11412845delG	ENSP00000259089:p.Lys208fs		Q16291|Q96IN1	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.D210fs	ENST00000259089.4	37	c.624	CCDS5982.1	8																																																																																			BLK	-	smart_SH2,pfscan_SH2	ENSG00000136573		0.617	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1		0	36	0	G			11412845	1	tier1		no_errors	ENST00000259089	ensembl	human	known	74_37	frame_shift_del	31.25	22	10	DEL	0.569	-	-	11412845	G	-	11412845	7	5	58	1	0	1	0	1	0	0	0	0	1446	991	35	0	650	0	BLK	8	11412845	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	240286	11412845	134951177	957	15340											
C8orf79	57604	genome.wustl.edu	37	chr8	12878882	12878882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttttgcaaatatttctaagGaaggcgaggaagaatatgga	15	11	12	3	1	1	1	0	0	1	1	1	5	1	4	0	4	1	2	0	4	7	6	rs370869117		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:12878882G>A	ENST00000524591.2	+	5	1183	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	232							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TATTTCTAAGGAAGGCGAGGA	0.418																																																	0													114	104	107					8																	12878882		1861	4108	5969	SO:0001583	missense	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.694G>A	8.37:g.12878882G>A	ENSP00000432695:p.Glu232Lys		Q96AW6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.E232K	ENST00000524591.2	37	c.694	CCDS47808.1	8	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104477	0.37145	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.10573	2.86	5.47	4.58	0.56647	.	0.582503	0.18585	N	0.136906	T	0.11623	0.0283	L	0.56769	1.78	0.80722	D	1	B	0.30793	0.295	B	0.27608	0.081	T	0.03969	-1.0988	10	0.28530	T	0.3	-15.8913	10.8585	0.46812	0.0914:0.0:0.9086:0.0	.	232	Q9P272	K1456_HUMAN	K	232;145	ENSP00000432695:E232K	ENSP00000432695:E232K	E	+	1	0	AC135352.2	12923253	1.000000	0.71417	0.913000	0.36048	0.234000	0.25298	5.266000	0.65525	2.745000	0.94114	0.650000	0.86243	GAA	KIAA1456	-	NULL	ENSG00000250305		0.418	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1456	HGNC	protein_coding	OTTHUMT00000383262.2	-	0	54	0	G	NM_001099677		12878882	1	tier1	-	no_errors	ENST00000524591	ensembl	human	known	74_37	missense	22.08	60	17	SNP	0.695	A	A	12878882	G	A	12878882	3	1	58	1	0	0	0	0	1	0	0	0	2445	1175	41	3	704	3	C8orf79	8	12878882	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1466037	12878882	133485140	958	15341											
DLC1	10395	genome.wustl.edu	37	chr8	12973135	12973135	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggggaaaccagttgcccgTagccaatcacaagcttcctt	10	9	10	12	1	1	0	1	0	0	0	2	1	2	1	4	2	4	3	4	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:12973135T>C	ENST00000276297.4	-	6	1789	c.1380A>G	c.(1378-1380)ctA>ctG	p.L460L	DLC1_ENST00000512044.2_Silent_p.L57L|DLC1_ENST00000358919.2_Silent_p.L23L|DLC1_ENST00000520226.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	460	SAM.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGTTGCCCGTAGCCAATCAC	0.418																																																	0													70	69	70					8																	12973135		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1380A>G	8.37:g.12973135T>C			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.L460	ENST00000276297.4	37	c.1380	CCDS5989.1	8																																																																																			DLC1	-	pfam_SAM_2	ENSG00000164741		0.418	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	36	0	T	NM_182643, NM_006094		12973135	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.080	C	C	12973135	T	C	12973135	2	2	58	1	0	0	0	0	0	0	0	1	4564	1625	57	4		4	DLC1	8	12973135	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	94253	12973135	133390887	959	15342											
MSR1	4481	genome.wustl.edu	37	chr8	16012654	16012654	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggggtccaggaggacCtttaaaaaaattacagttac	14	8	10	9	1	0	0	0	0	0	0	1	2	1	2	3	4	2	1	3	4	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:16012654C>A	ENST00000262101.5	-	6	939		c.e6-1		MSR1_ENST00000381998.4_Splice_Site|MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000350896.3_Splice_Site|MSR1_ENST00000536385.1_Splice_Site|MSR1_ENST00000355282.2_Splice_Site			P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAGGAGGACCTTTAAAAAAA	0.403																																																	0			GRCh37	CS061306	MSR1	S							40	41	40					8																	16012654		2203	4298	6501	SO:0001630	splice_region_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.818-1G>T	8.37:g.16012654C>A			D3DSP3|O60505|P21759|Q45F10	Splice_Site	SNP	-	e5-1	ENST00000262101.5	37	c.818-1	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665717	0.67700	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3305	0.83010	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSR1	16057025	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.935000	0.56560	2.627000	0.88993	0.650000	0.86243	.	MSR1	-	-	ENSG00000038945		0.403	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	-	0	41	0	C		Intron	16012654	-1	tier1	-	no_errors	ENST00000262101	ensembl	human	known	74_37	splice_site	30.56	50	22	SNP	1.000	A	A	16012654	C	A	16012654	5	1	58	1	0	0	0	0	0	0	1	0	9924	695	24	3	606	3	MSR1	8	16012654	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3039519	16012654	130351368	960	15343											
PSD3	23362	genome.wustl.edu	37	chr8	18490296	18490297	+	Frame_Shift_Del	DEL	TT	TT	-																															cagtactttctgagggagacTtttttttctcttcatcatct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:18490296_18490297delTT	ENST00000327040.8	-	11	2338_2339	c.2236_2237delAA	c.(2236-2238)aagfs	p.K746fs	PSD3_ENST00000286485.8_Frame_Shift_Del_p.K212fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.K75fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.K681fs|PSD3_ENST00000440756.2_Frame_Shift_Del_p.K748fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	747					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGAGGGAGACTTTTTTTTCTCT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2236_2237delAA	8.37:g.18490302_18490303delTT	ENSP00000324127:p.Lys746fs		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Del	DEL	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.K748fs	ENST00000327040.8	37	c.2243_2242	CCDS43720.1	8																																																																																			PSD3	-	NULL	ENSG00000156011		0.361	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1		0	64	0	TT	NM_015310		18490297	-1	tier1		no_errors	ENST00000440756	ensembl	human	known	74_37	frame_shift_del	17.21	101	21	DEL	1.000:1.000	-	-	18490297	TT	-	18490296	7	5	58	1	0	1	0	1	0	0	0	0	12690	1609	56	0	930	0	PSD3	8	18490296	Frame_Shift_Del	DEL	TT	TCGA-L5-A4OI-01A-11D-A27G-09	2477642	18490296	127873726	961	15344											
INTS10	55174	genome.wustl.edu	37	chr8	19684060	19684060	+	Frame_Shift_Del	DEL	A	A	-																															gaaactagctgaaggaagagAaaaaaccatggtaaggcttt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:19684060delA	ENST00000397977.3	+	9	1528	c.1130delA	c.(1129-1131)gaafs	p.E377fs		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	377					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GAAGGAAGAGAAAAAACCATG	0.358																																																	0													85	79	81					8																	19684060		1838	4083	5921	SO:0001589	frameshift_variant	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1130delA	8.37:g.19684060delA	ENSP00000381064:p.Glu377fs		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Frame_Shift_Del	DEL	NULL	p.T379fs	ENST00000397977.3	37	c.1130	CCDS6011.2	8																																																																																			INTS10	-	NULL	ENSG00000104613		0.358	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2		0	55	0	A	NM_018142		19684060	1	tier1		no_errors	ENST00000397977	ensembl	human	known	74_37	frame_shift_del	21.33	59	16	DEL	1.000	-	-	19684060	A	-	19684060	7	5	58	1	0	1	0	1	0	0	0	0	7803	246	9	0	1164	0	INTS10	8	19684060	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1193764	19684060	126679962	962	15345											
INTS10	55174	genome.wustl.edu	37	chr8	19709225	19709225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgcctggccatggagcGccaggtctcccgctgtggag	4	9	14	14	3	1	0	0	0	1	0	3	2	1	2	4	4	1	1	4	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:19709225G>A	ENST00000397977.3	+	17	2440	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	681					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCCATGGAGCGCCAGGTCTCC	0.537																																																	0													106	108	108					8																	19709225		2056	4197	6253	SO:0001583	missense	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"chromosome 8 open reading frame 35"	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.2042G>A	8.37:g.19709225G>A	ENSP00000381064:p.Arg681His		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.R681H	ENST00000397977.3	37	c.2042	CCDS6011.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064078|5.064078	0.93898|0.93898	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523772|ENST00000397977;ENST00000520670	.|.	.|.	.|.	5.56|5.56	4.68|4.68	0.58851|0.58851	.|.	.|0.095561	.|0.64402	.|D	.|0.000001	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.45768	.|0.866	.|B	.|0.37989	.|0.262	T|T	0.56450|0.56450	-0.7977|-0.7977	5|8	.|.	.|.	.|.	-15.6052|-15.6052	15.0965|15.0965	0.72238|0.72238	0.0:0.1427:0.8573:0.0|0.0:0.1427:0.8573:0.0	.|.	.|681	.|Q9NVR2	.|INT10_HUMAN	T|H	144|681;85	.|.	.|.	A|R	+|+	1|2	0|0	INTS10|INTS10	19753505|19753505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.397000|9.397000	0.97276|0.97276	1.316000|1.316000	0.45131|0.45131	0.655000|0.655000	0.94253|0.94253	GCC|CGC	INTS10	-	NULL	ENSG00000104613		0.537	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	-	0	59	0	G	NM_018142		19709225	1	tier1	-	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	26.09	51	18	SNP	1.000	A	A	19709225	G	A	19709225	3	1	58	1	0	0	0	0	1	0	0	0	7803	1087	38	1	2108	1	INTS10	8	19709225	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	25165	19709225	126654797	963	15346											
LZTS1	11178	genome.wustl.edu	37	chr8	20110344	20110344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctggtcttctccctctcGtaggacctgagcttggtctc	5	13	10	13	1	4	1	0	1	4	0	7	2	4	2	2	3	2	3	2	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:20110344G>A	ENST00000381569.1	-	3	1455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	LZTS1_ENST00000522290.1_Silent_p.Y366Y|LZTS1_ENST00000265801.6_Silent_p.Y366Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	366					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTCCCTCTCGTAGGACCTGA	0.642																																																	0													35	36	36					8																	20110344		2203	4300	6503	SO:0001819	synonymous_variant	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1098C>T	8.37:g.20110344G>A			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	NULL	p.Y366	ENST00000381569.1	37	c.1098	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.642	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	-	0	23	0	G	NM_021020		20110344	-1	tier1	-	no_errors	ENST00000265801	ensembl	human	known	74_37	silent	22.58	24	7	SNP	0.838	A	A	20110344	G	A	20110344	2	1	58	1	0	0	0	0	0	0	0	1	9174	1140	40	1		1	LZTS1	8	20110344	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	401119	20110344	126253678	964	15347											
PHYHIP	9796	genome.wustl.edu	37	chr8	22084495	22084495	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtggcctctcaccgtcAtgggcagcggcactgccttg	6	8	12	15	2	2	0	2	0	1	0	3	0	2	0	4	3	2	2	4	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:22084495A>G	ENST00000321613.3	-	4	665	c.209T>C	c.(208-210)aTg>aCg	p.M70T	PHYHIP_ENST00000454243.2_Missense_Mutation_p.M70T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	70	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TCTCACCGTCATGGGCAGCGG	0.627																																																	0													53	62	59					8																	22084495		2169	4258	6427	SO:0001583	missense	0			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"phytanoyl-CoA hydroxylase interacting protein", "DYRK1A interacting protein 3"	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.209T>C	8.37:g.22084495A>G	ENSP00000320017:p.Met70Thr		D3DSR1|Q8N4I9	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.M70T	ENST00000321613.3	37	c.209	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498658	0.85069	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.40225	1.04;1.04	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	L	0.46157	1.445	0.52501	D	0.999953	D	0.76494	0.999	D	0.81914	0.995	T	0.60924	-0.7166	10	0.87932	D	0	-38.0326	14.9695	0.71223	1.0:0.0:0.0:0.0	.	70	Q92561	PHYIP_HUMAN	T	70;70;22	ENSP00000320017:M70T;ENSP00000415491:M70T	ENSP00000320017:M70T	M	-	2	0	PHYHIP	22140440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.171000	0.68590	0.533000	0.62120	ATG	PHYHIP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168490		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	-	0	31	0	A	NM_014759		22084495	-1	tier1	-	no_errors	ENST00000454243	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	G	G	22084495	A	G	22084495	3	3	58	1	0	0	0	0	1	0	0	0	11905	217	8	4	795	4	PHYHIP	8	22084495	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1974151	22084495	124279527	965	15348											
PDLIM2	64236	genome.wustl.edu	37	chr8	22447194	22447195	+	Frame_Shift_Ins	INS	-	-	C																															aaatcgcgagggacgggcggINSccccccgacagtccagctcc																								rs533019720		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:22447194_22447195insC	ENST00000397760.4	+	8	1103_1104	c.703_704insC	c.(703-705)gccfs	p.A235fs	AC037459.4_ENST00000430850.2_Frame_Shift_Ins_p.A29fs|PDLIM2_ENST00000265810.4_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000409141.1_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000397761.2_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000409417.1_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000308354.7_Frame_Shift_Ins_p.A485fs			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	235						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GGGACGGGCGGCCCCCCGACAG	0.649																																																	0																																										SO:0001589	frameshift_variant	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.709dupC	8.37:g.22447200_22447200dupC	ENSP00000380867:p.Ala235fs		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Frame_Shift_Ins	INS	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R487fs	ENST00000397760.4	37	c.1453_1454		8																																																																																			PDLIM2	-	NULL	ENSG00000120913		0.649	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1		0	58	0	-			22447195	1	tier1		no_errors	ENST00000308354	ensembl	human	known	74_37	frame_shift_ins	28.16	74	29	INS	0.421:0.939	C	C	22447195	-	C	22447194	7	5	58	1	0	1	1	0	0	0	0	0	11719	1203	42	0	729	0	PDLIM2	8	22447194	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	362699	22447194	123916828	966	15349											
C8orf58	541565	genome.wustl.edu	37	chr8	22458526	22458526	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttcagaggtgtcggcaggGaggcactctttctcaaactg	9	10	13	9	1	3	1	2	0	2	1	5	2	3	2	0	4	1	3	0	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:22458526G>T	ENST00000289989.5	+	2	246	c.172G>T	c.(172-174)Gag>Tag	p.E58*	C8orf58_ENST00000409586.3_Nonsense_Mutation_p.E58*|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	58										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGTCGGCAGGGAGGCACTCTT	0.627																																																	0													40	46	44					8																	22458526		2202	4299	6501	SO:0001587	stop_gained	0			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.172G>T	8.37:g.22458526G>T	ENSP00000289989:p.Glu58*		B4DI44	Nonsense_Mutation	SNP	NULL	p.E58*	ENST00000289989.5	37	c.172	CCDS34862.1	8	.	.	.	.	.	.	.	.	.	.	g	13.95	2.388689	0.42308	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989	.	.	.	4.02	3.13	0.36017	.	0.344301	0.21224	N	0.078092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.1843	10.0895	0.42439	0.0:0.7815:0.2184:0.0	.	.	.	.	X	127;58;58	.	ENSP00000399696:E127X	E	+	1	0	AC037459.4;C8orf58	22514471	0.165000	0.22948	0.014000	0.15608	0.002000	0.02628	2.277000	0.43417	0.967000	0.38186	-0.537000	0.04273	GAG	C8orf58	-	NULL	ENSG00000241852		0.627	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	-	0	102	0	G	NM_001013842		22458526	1	tier1	-	no_errors	ENST00000289989	ensembl	human	known	74_37	nonsense	25.58	96	33	SNP	0.055	T	T	22458526	G	T	22458526	4	4	58	1	0	0	0	0	0	1	0	0	2440	1175	41	3	178	3	C8orf58	8	22458526	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	11332	22458526	123905496	967	15350											
TNFRSF10A	8797	genome.wustl.edu	37	chr8	23054712	23054712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacccttcagcttctgcCggtccctgtaacacacagtg	8	10	9	14	1	2	1	1	1	1	1	3	2	3	1	3	1	3	2	3	1	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:23054712C>T	ENST00000221132.3	-	9	1084	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	340					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CAGCTTCTGCCGGTCCCTGTA	0.562																																																	0																																										SO:0001819	synonymous_variant	0			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"Tumor necrosis factor receptor superfamily", "CD molecules"	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1020G>A	8.37:g.23054712C>T			A8K5I4|Q53Y72|Q96E62	Silent	SNP	pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.P340	ENST00000221132.3	37	c.1020	CCDS6039.1	8																																																																																			TNFRSF10A	-	pirsf_TNFR_10	ENSG00000104689		0.562	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	-	0	102	0	C	NM_003844		23054712	-1	tier1	-	no_errors	ENST00000221132	ensembl	human	known	74_37	silent	19.78	73	18	SNP	0.000	T	T	23054712	C	T	23054712	2	4	58	1	0	0	0	0	0	0	0	1	16327	639	23	1		1	TNFRSF10A	8	23054712	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	596186	23054712	123309310	968	15351											
LOXL2	4017	genome.wustl.edu	37	chr8	23225572	23225572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgtagcccagctccCggcagacgacgtgggcagcg	7	4	13	17	5	0	1	0	0	0	1	2	2	2	1	4	2	3	4	4	2	1	1	rs138761125	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:23225572C>T	ENST00000389131.3	-	2	662	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	98	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCAGCTCCCGGCAGACGAC	0.617																																																	0								C	GLN/ARG	0,4406		0,0,2203	82	63	70		293	5.6	1	8	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LOXL2	NM_002318.2	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	98/775	23225572	3,13003	2203	4300	6503	SO:0001583	missense	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.293G>A	8.37:g.23225572C>T	ENSP00000373783:p.Arg98Gln		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.R98Q	ENST00000389131.3	37	c.293	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.500552	0.96355	0.0	3.49E-4	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083;ENST00000524168	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.55	5.55	0.83447	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.69477	0.3115	M	0.84511	2.7	0.53688	D	0.999979	D	0.89917	1.0	D	0.74674	0.984	T	0.73886	-0.3841	10	0.87932	D	0	.	18.4111	0.90550	0.0:1.0:0.0:0.0	.	98	Q9Y4K0	LOXL2_HUMAN	Q	98;179;139;98;98	ENSP00000373783:R98Q;ENSP00000427883:R179Q;ENSP00000429778:R139Q;ENSP00000430519:R98Q;ENSP00000428497:R98Q	ENSP00000373783:R98Q	R	-	2	0	LOXL2	23281517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.793000	0.62474	2.764000	0.94973	0.563000	0.77884	CGG	LOXL2	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000134013		0.617	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	-	0	41	0	C			23225572	-1	tier1	rs138761125	no_errors	ENST00000389131	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	T	T	23225572	C	T	23225572	3	4	58	1	0	0	0	0	1	0	0	0	8935	652	23	1	2083	1	LOXL2	8	23225572	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	170860	23225572	123138450	969	15352											
ADAMDEC1	27299	genome.wustl.edu	37	chr8	24257805	24257805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagttgtgtgatgaatcaGtatctgaggtgagaccttgt	9	13	14	5	0	2	4	1	4	1	1	2	5	2	4	1	2	0	3	1	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24257805G>T	ENST00000256412.4	+	11	1354	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.Q299H|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.Q299H|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	378	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGATGAATCAGTATCTGAGGT	0.388																																					Ovarian(147;687 1849 3699 25981 31337)												0													135	110	118					8																	24257805		2203	4300	6503	SO:0001583	missense	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1134G>T	8.37:g.24257805G>T	ENSP00000256412:p.Gln378His		B7ZAK5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.Q378H	ENST00000256412.4	37	c.1134	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780045	0.49891	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.63744	-0.06;-0.06;-0.06	5.48	-10.2	0.00374	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.199189	0.35555	N	0.003130	T	0.60405	0.2266	L	0.57536	1.79	0.21445	N	0.999685	B	0.31054	0.306	B	0.41036	0.346	T	0.54377	-0.8303	10	0.46703	T	0.11	-6.2273	21.5419	0.99956	0.218:0.0:0.782:0.0	.	378	O15204	ADEC1_HUMAN	H	378;299;299	ENSP00000256412:Q378H;ENSP00000442592:Q299H;ENSP00000428993:Q299H	ENSP00000256412:Q378H	Q	+	3	2	ADAMDEC1	24313750	0.002000	0.14202	0.217000	0.23759	0.823000	0.46562	-0.748000	0.04818	-2.377000	0.00597	-0.781000	0.03364	CAG	ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134028		0.388	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	-	0	53	0	G	NM_014479		24257805	1	tier1	-	no_errors	ENST00000256412	ensembl	human	known	74_37	missense	5.32	89	5	SNP	0.145	T	T	24257805	G	T	24257805	3	4	58	1	0	0	0	0	1	0	0	0	254	1020	36	3	1176	3	ADAMDEC1	8	24257805	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1032233	24257805	122106217	970	15353											
ADAM7	8756	genome.wustl.edu	37	chr8	24342860	24342860	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctgccctattattccAccagtatcattaaggtgggc	8	13	9	11	0	1	0	1	0	0	0	2	0	2	0	4	2	2	1	4	2	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24342860A>T	ENST00000175238.6	+	10	1029	c.946A>T	c.(946-948)Acc>Tcc	p.T316S	ADAM7_ENST00000380789.1_Missense_Mutation_p.T316S|ADAM7_ENST00000520720.1_Missense_Mutation_p.T88S|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	316	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTATTATTCCACCAGTATCAT	0.363																																																	0													126	122	123					8																	24342860		2203	4300	6503	SO:0001583	missense	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.946A>T	8.37:g.24342860A>T	ENSP00000175238:p.Thr316Ser		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T316S	ENST00000175238.6	37	c.946	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	A	1.447	-0.566146	0.03910	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.29917	1.55;1.55;1.55	5.44	1.33	0.21861	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.670270	0.13815	N	0.360801	T	0.12178	0.0296	N	0.10707	0.03	0.20074	N	0.999937	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.003	T	0.32824	-0.9892	10	0.13853	T	0.58	.	5.0863	0.14684	0.3274:0.0:0.1642:0.5084	.	88;316	E5RK87;Q9H2U9	.;ADAM7_HUMAN	S	316;316;88;131	ENSP00000175238:T316S;ENSP00000370166:T316S;ENSP00000430400:T88S	ENSP00000175238:T316S	T	+	1	0	ADAM7	24398750	0.026000	0.19158	0.965000	0.40720	0.291000	0.27294	0.003000	0.13083	0.342000	0.23796	-0.319000	0.08680	ACC	ADAM7	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000069206		0.363	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	58	0	A	NM_003817		24342860	1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	28.75	57	23	SNP	0.992	T	T	24342860	A	T	24342860	3	4	58	1	0	0	0	0	1	0	0	0	251	159	6	5	984	5	ADAM7	8	24342860	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	85055	24342860	122021162	971	15354											
ADAM7	8756	genome.wustl.edu	37	chr8	24359015	24359015	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctacagaaaccctgggagtgGagaacaaaggatactttggt	14	8	12	7	0	0	2	0	0	0	2	0	5	0	4	1	4	4	0	1	4	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24359015G>T	ENST00000175238.6	+	20	2217	c.2134G>T	c.(2134-2136)Gag>Tag	p.E712*	ADAM7_ENST00000380789.1_Nonsense_Mutation_p.E712*|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.E484*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	712						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCTGGGAGTGGAGAACAAAGG	0.383																																																	0													92	94	93					8																	24359015		2203	4300	6503	SO:0001587	stop_gained	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2134G>T	8.37:g.24359015G>T	ENSP00000175238:p.Glu712*		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E712*	ENST00000175238.6	37	c.2134	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.216723	0.97385	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	4.37	4.37	0.52481	.	0.130157	0.34484	N	0.003924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	12.6066	0.56527	0.0:0.0:1.0:0.0	.	.	.	.	X	712;712;484;527	.	ENSP00000175238:E712X	E	+	1	0	ADAM7	24414905	1.000000	0.71417	0.996000	0.52242	0.576000	0.36127	4.046000	0.57376	2.438000	0.82558	0.563000	0.77884	GAG	ADAM7	-	NULL	ENSG00000069206		0.383	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	78	0	G	NM_003817		24359015	1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	nonsense	6.40	117	8	SNP	0.995	T	T	24359015	G	T	24359015	4	4	58	1	0	0	0	0	0	1	0	0	251	1175	41	3	2212	3	ADAM7	8	24359015	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	16155	24359015	122005007	972	15355											
NEFL	4747	genome.wustl.edu	37	chr8	24813280	24813280	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggaaaggtcgggcttGgtcacgtccatctccacgga	7	7	15	12	5	2	0	1	0	1	0	5	2	3	2	2	6	0	1	2	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24813280G>T	ENST00000221169.5	-	0	1344				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTCGGGCTTGGTCACGTCCA	0.577																																																	0													49	54	53					8																	24813280		2148	4257	6405			0				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"Intermediate filaments type IV"	7739	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 110"	162280	"neurofilament, light polypeptide 68kDa"			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813280G>T			B9ZVN2|Q16154|Q8IU72	RNA	SNP	-	NULL	ENST00000221169.5	37	NULL		8																																																																																			NEFL	-	-	ENSG00000104725		0.577	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	NEFL	HGNC	processed_transcript	OTTHUMT00000258943.4	-	0	33	0	G	NM_006158		24813280	-1	tier1	-	no_errors	ENST00000221169	ensembl	human	known	74_37	rna	27.08	35	13	SNP	1.000	T	T	24813280	G	T	24813280	1	4	58	0	1	0	0	0	0	0	0	0	10354	1335	47	3		3	NEFL	8	24813280	RNA	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	454265	24813280	121550742	973	15356											
DOCK5	80005	genome.wustl.edu	37	chr8	25230154	25230154	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtcagcagcctcttaGagaacctgctggactataga	10	10	10	11	0	2	2	1	0	1	2	3	4	3	3	3	2	4	2	3	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:25230154G>T	ENST00000276440.7	+	35	3648	c.3604G>T	c.(3604-3606)Gag>Tag	p.E1202*		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1202					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGCCTCTTAGAGAACCTGCT	0.547																																					Pancreas(145;34 1887 3271 10937 30165)												0													85	74	78					8																	25230154		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3604G>T	8.37:g.25230154G>T	ENSP00000276440:p.Glu1202*		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E1202*	ENST00000276440.7	37	c.3604	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.172091|10.172091	0.99352|0.99352	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76528	.|0.4000	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74914	.|-0.3502	.|3	0.62326|.	D|.	0.03|.	.|.	19.5183|19.5183	0.95174|0.95174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1202|973	.|.	ENSP00000276440:E1202X|.	E|R	+|+	1|2	0|0	DOCK5|DOCK5	25286071|25286071	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.921000|0.921000	0.55340|0.55340	9.869000|9.869000	0.99810|0.99810	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GAG|AGA	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.547	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0	68	0	G	NM_024940		25230154	1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	T	T	25230154	G	T	25230154	4	4	58	1	0	0	0	0	0	1	0	0	4704	943	33	3	3742	3	DOCK5	8	25230154	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	416874	25230154	121133868	974	15357											
DOCK5	80005	genome.wustl.edu	37	chr8	25240190	25240190	+	Splice_Site	DEL	A	A	-																															tgtcttgttttgttttccagAaaaaaagggcctcattttat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:25240190delA	ENST00000276440.7	+	40	4071	c.4027delA	c.(4027-4029)aaa>aa	p.K1344fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1344	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTTTTCCAGAAAAAAAGGGC	0.408																																					Pancreas(145;34 1887 3271 10937 30165)												0													85	80	82					8																	25240190		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4027-1A>-	8.37:g.25240190delA			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R1345fs	ENST00000276440.7	37	c.4027	CCDS6047.1	8																																																																																			DOCK5	-	NULL	ENSG00000147459		0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2		0	47	0	A	NM_024940	Frame_Shift_Del	25240190	1	tier1		no_errors	ENST00000276440	ensembl	human	known	74_37	frame_shift_del	33.85	43	22	DEL	1.000	-	-	25240190	A	-	25240190	8	5	58	1	0	1	0	1	0	0	1	0	4704	260	9	0	4185	0	DOCK5	8	25240190	Splice_Site	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	10036	25240190	121123832	975	15358											
PTK2B	2185	genome.wustl.edu	37	chr8	27294938	27294938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagaacctcgaccacccGcacatcgtgaagctgatcgg	12	6	10	13	4	0	4	0	3	0	1	3	5	0	4	3	1	2	2	3	1	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:27294938G>A	ENST00000397501.1	+	22	2260	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	PTK2B_ENST00000544172.1_Silent_p.P484P|PTK2B_ENST00000346049.5_Silent_p.P484P|PTK2B_ENST00000397497.4_Silent_p.P230P|PTK2B_ENST00000517339.1_Silent_p.P484P|PTK2B_ENST00000420218.2_Silent_p.P484P|PTK2B_ENST00000338238.4_Silent_p.P484P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCGACCACCCGCACATCGTGA	0.542																																																	0													108	85	93					8																	27294938		2203	4300	6503	SO:0001819	synonymous_variant	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1452G>A	8.37:g.27294938G>A			D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P484	ENST00000397501.1	37	c.1452	CCDS6057.1	8																																																																																			PTK2B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000120899		0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	-	0	42	0	G	NM_004103		27294938	1	tier1	-	no_errors	ENST00000346049	ensembl	human	known	74_37	silent	36.54	33	19	SNP	0.091	A	A	27294938	G	A	27294938	2	1	58	1	0	0	0	0	0	0	0	1	12806	1074	38	1		1	PTK2B	8	27294938	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2054748	27294938	119069084	976	15359											
SCARA3	51435	genome.wustl.edu	37	chr8	27516366	27516366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccagatcaacttcaccGtggggcagacttccgagtgg	9	8	12	12	2	2	2	2	0	0	2	3	3	3	2	3	3	2	2	3	3	1	2	rs200594740		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:27516366G>A	ENST00000301904.3	+	5	699	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	SCARA3_ENST00000337221.4_Missense_Mutation_p.V227M	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	227					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CAACTTCACCGTGGGGCAGAC	0.597																																																	0													49	49	49					8																	27516366		2203	4300	6503	SO:0001583	missense	0			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.679G>A	8.37:g.27516366G>A	ENSP00000301904:p.Val227Met		Q9UM15|Q9UM16	Missense_Mutation	SNP	pfam_Collagen	p.V227M	ENST00000301904.3	37	c.679	CCDS34871.1	8	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354401	0.41700	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;T	0.78816	-1.21;1.73	6.03	3.24	0.37175	.	0.234468	0.42294	N	0.000727	T	0.59018	0.2163	N	0.19112	0.55	0.35970	D	0.835279	B;B	0.28801	0.145;0.223	B;B	0.21546	0.035;0.01	T	0.57051	-0.7877	10	0.38643	T	0.18	-4.281	7.2579	0.26187	0.1462:0.0:0.7165:0.1373	.	227;227	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	M	227	ENSP00000337985:V227M;ENSP00000301904:V227M	ENSP00000301904:V227M	V	+	1	0	SCARA3	27572285	0.874000	0.30092	0.238000	0.24106	0.987000	0.75469	1.230000	0.32612	0.417000	0.25871	0.655000	0.94253	GTG	SCARA3	-	NULL	ENSG00000168077		0.597	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	HGNC	protein_coding	OTTHUMT00000376258.2	-	0	36	0	G	NM_016240		27516366	1	tier1	rs200594740	no_errors	ENST00000301904	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.827	A	A	27516366	G	A	27516366	3	1	58	1	0	0	0	0	1	0	0	0	13924	1145	40	1	697	1	SCARA3	8	27516366	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	221428	27516366	118847656	977	15360											
ELP3	55140	genome.wustl.edu	37	chr8	27987107	27987107	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgacatttaagtgacatgTtgacctatggctgcacaagg	12	10	11	8	1	0	2	0	2	0	0	0	3	0	2	1	2	2	3	1	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:27987107T>C	ENST00000256398.8	+	8	1083	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	ELP3_ENST00000537665.1_Silent_p.L117L|ELP3_ENST00000524103.1_Silent_p.L164L|ELP3_ENST00000521015.1_Silent_p.L222L|ELP3_ENST00000542181.1_Silent_p.L107L|ELP3_ENST00000380353.4_Silent_p.L144L	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	236					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAGTGACATGTTGACCTATGG	0.448																																																	0													211	197	202					8																	27987107		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"Chromatin-modifying enzymes / K-acetyltransferases", "Elongator acetyltransferase complex subunits"	20696	protein-coding gene	gene with protein product		612722	"elongation protein 3 homolog (S. cerevisiae)"			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.706T>C	8.37:g.27987107T>C			B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	p.L236	ENST00000256398.8	37	c.706	CCDS6065.1	8																																																																																			ELP3	-	pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,tigrfam_Hist_AcTrfase_ELP3	ENSG00000134014		0.448	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP3	HGNC	protein_coding	OTTHUMT00000219963.2	-	0	84	0	T	NM_018091		27987107	1	tier1	-	no_errors	ENST00000256398	ensembl	human	known	74_37	silent	21.71	101	28	SNP	1.000	C	C	27987107	T	C	27987107	2	2	58	1	0	0	0	0	0	0	0	1	5097	1722	60	4		4	ELP3	8	27987107	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	470741	27987107	118376915	978	15361											
ZNF395	55893	genome.wustl.edu	37	chr8	28217266	28217266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgctccagcagccagaCggtcacctgaccctccatcc	7	8	7	19	1	2	2	1	1	1	1	5	2	5	2	6	1	3	2	6	1	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:28217266C>T	ENST00000344423.5	-	3	447	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	ZNF395_ENST00000523095.1_Missense_Mutation_p.V106I|ZNF395_ENST00000523202.1_Missense_Mutation_p.V106I	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGCAGCCAGACGGTCACCTGA	0.637																																																	0													85	68	74					8																	28217266		2203	4300	6503	SO:0001583	missense	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.316G>A	8.37:g.28217266C>T	ENSP00000340494:p.Val106Ile		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.V106I	ENST00000344423.5	37	c.316	CCDS6067.1	8	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318547	0.60524	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290;ENST00000521185	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.5	5.5	0.81552	.	0.169713	0.40640	N	0.001051	T	0.78541	0.4299	L	0.41961	1.31	0.80722	D	1	D	0.53151	0.958	B	0.41236	0.351	T	0.79586	-0.1742	10	0.40728	T	0.16	-29.9022	16.8908	0.86087	0.0:1.0:0.0:0.0	.	106	Q9H8N7	ZN395_HUMAN	I	106	ENSP00000340494:V106I;ENSP00000429640:V106I;ENSP00000428452:V106I;ENSP00000427934:V106I	ENSP00000340494:V106I	V	-	1	0	ZNF395	28273185	0.889000	0.30405	0.157000	0.22605	0.972000	0.66771	2.995000	0.49441	2.594000	0.87642	0.555000	0.69702	GTC	ZNF395	-	NULL	ENSG00000186918		0.637	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1		0	29	0	C			28217266	-1			no_errors	ENST00000344423	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.366	T	T	28217266	C	T	28217266	3	4	58	1	0	0	0	0	1	0	0	0	17929	536	19	1	1257	1	ZNF395	8	28217266	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	230159	28217266	118146756	979	15362											
KIF13B	23303	genome.wustl.edu	37	chr8	29035024	29035024	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcctgtcccctgcagcGcctgtcttcgttgctcgttc	2	14	9	16	3	2	0	1	0	1	0	6	0	3	0	4	0	4	4	4	0	0	4	rs370558494		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:29035024G>T	ENST00000524189.1	-	9	830	c.792C>A	c.(790-792)ggC>ggA	p.G264G	KIF13B_ENST00000521515.1_Silent_p.G264G	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	264	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCCCTGCAGCGCCTGTCTTCG	0.428											OREG0018684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													132	134	133					8																	29035024		1928	4151	6079	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.792C>A	8.37:g.29035024G>T		806	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G264	ENST00000524189.1	37	c.792	CCDS55217.1	8																																																																																			KIF13B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000197892		0.428	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	-	0	52	0	G			29035024	-1	tier1	-	no_errors	ENST00000524189	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.851	T	T	29035024	G	T	29035024	2	4	58	1	0	0	0	0	0	0	0	1	8302	1074	38	2		2	KIF13B	8	29035024	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	817758	29035024	117328998	980	15363											
DCTN6	10671	genome.wustl.edu	37	chr8	30036928	30036928	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taactctggcttacagattcCcaagccatgaagatgggaga	13	9	10	9	0	1	4	0	1	1	3	2	5	2	4	2	2	3	1	2	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:30036928C>A	ENST00000221114.3	+	5	375	c.288C>A	c.(286-288)tcC>tcA	p.S96S	RP11-51J9.4_ENST00000523733.1_RNA|DCTN6_ENST00000520829.1_Silent_p.S96S	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	96					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TTACAGATTCCCAAGCCATGA	0.398																																																	0													127	120	122					8																	30036928		2203	4300	6503	SO:0001819	synonymous_variant	0			D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.288C>A	8.37:g.30036928C>A			B2RAC1	Missense_Mutation	SNP	superfamily_Trimer_LpxA-like	p.P67T	ENST00000221114.3	37	c.199	CCDS6076.1	8																																																																																			DCTN6	-	NULL	ENSG00000104671		0.398	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN6	HGNC	protein_coding	OTTHUMT00000375815.2	-	0	74	0	C	NM_006571		30036928	1	tier1	-	no_errors	ENST00000523666	ensembl	human	known	74_37	missense	21.70	81	23	SNP	0.999	A	A	30036928	C	A	30036928	2	1	58	1	0	0	0	0	0	0	0	1	4320	610	22	3		3	DCTN6	8	30036928	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1001904	30036928	116327094	981	15364											
KCNU1	157855	genome.wustl.edu	37	chr8	36793351	36793351	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatatcatctcagataccTttaggtgacaatgcaaaaga	16	12	6	7	0	2	3	2	1	1	2	3	3	2	3	1	1	2	1	1	1	7	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:36793351T>G	ENST00000399881.3	+	27	3400	c.3363T>G	c.(3361-3363)ccT>ccG	p.P1121P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1121					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTCAGATACCTTTAGGTGACA	0.383																																																	0													112	110	111					8																	36793351		1866	4103	5969	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3363T>G	8.37:g.36793351T>G				Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.P1121	ENST00000399881.3	37	c.3363	CCDS55220.1	8																																																																																			KCNU1	-	NULL	ENSG00000215262		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	48	0	T	NM_001031836		36793351	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	silent	35.21	46	25	SNP	0.000	G	G	36793351	T	G	36793351	2	3	58	1	0	0	0	0	0	0	0	1	8120	1596	56	4		4	KCNU1	8	36793351	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	6756423	36793351	109570671	982	15365											
PROSC	11212	genome.wustl.edu	37	chr8	37633479	37633479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtaaaaagctgaacaTccctgctgaccaggttgagc	11	9	11	10	0	0	3	0	3	0	0	1	3	1	3	2	1	4	5	2	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37633479T>C	ENST00000328195.3	+	7	708	c.641T>C	c.(640-642)aTc>aCc	p.I214T		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	214					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AAGCTGAACATCCCTGCTGAC	0.547																																																	0													205	195	199					8																	37633479		2203	4300	6503	SO:0001583	missense	0			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"proline synthetase co-transcribed (bacterial homolog)"				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.641T>C	8.37:g.37633479T>C	ENSP00000333551:p.Ile214Thr		Q6FI94	Missense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.I214T	ENST00000328195.3	37	c.641	CCDS6096.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.933|9.933	1.215435|1.215435	0.22373|0.22373	.|.	.|.	ENSG00000147471|ENSG00000147471	ENST00000328195|ENST00000521494	T|.	0.42513|.	0.97|.	5.97|5.97	4.82|4.82	0.62117|0.62117	Alanine racemase, N-terminal (1);|.	1.196900|.	0.05651|.	N|.	0.585125|.	T|T	0.60663|0.60663	0.2286|0.2286	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.19946|.	0.027|.	T|T	0.57266|0.57266	-0.7841|-0.7841	10|5	0.66056|.	D|.	0.02|.	.|.	11.775|11.775	0.51981|0.51981	0.0:0.0692:0.0:0.9308|0.0:0.0692:0.0:0.9308	.|.	214|.	O94903|.	PROSC_HUMAN|.	T|P	214|183	ENSP00000333551:I214T|.	ENSP00000333551:I214T|.	I|S	+|+	2|1	0|0	PROSC|PROSC	37752637|37752637	0.918000|0.918000	0.31147|0.31147	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	6.036000|6.036000	0.70948|0.70948	1.084000|1.084000	0.41184|0.41184	0.533000|0.533000	0.62120|0.62120	ATC|TCC	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	ENSG00000147471		0.547	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	-	0	79	0	T	NM_007198		37633479	1	tier1	-	no_errors	ENST00000328195	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.074	C	C	37633479	T	C	37633479	3	2	58	1	0	0	0	0	1	0	0	0	12601	1435	50	4	667	4	PROSC	8	37633479	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	840128	37633479	108730543	983	15366											
GPR124	25960	genome.wustl.edu	37	chr8	37692814	37692814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacggccaggaagccctggCcagaaccccccacctgagcc	10	2	10	19	1	0	2	0	1	0	1	0	3	0	3	8	3	3	0	8	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37692814C>T	ENST00000412232.2	+	12	1744	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	577					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAAGCCCTGGCCAGAACCCCC	0.667																																																	0													34	39	37					8																	37692814		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1731C>T	8.37:g.37692814C>T			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G577	ENST00000412232.2	37	c.1731	CCDS6097.2	8																																																																																			GPR124	-	NULL	ENSG00000020181		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	-	0	74	0	C			37692814	1	tier1	-	no_errors	ENST00000412232	ensembl	human	known	74_37	silent	34.62	34	18	SNP	0.828	T	T	37692814	C	T	37692814	2	4	58	1	0	0	0	0	0	0	0	1	6664	726	26	3		3	GPR124	8	37692814	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	59335	37692814	108671208	984	15367											
GPR124	25960	genome.wustl.edu	37	chr8	37696506	37696506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccagggaggtggggggCgccggggcagggctgcaccc	4	5	20	12	2	0	0	0	0	0	0	1	1	1	1	3	8	1	3	3	8	0	1	rs147055217		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37696506C>T	ENST00000412232.2	+	15	2305	c.2292C>T	c.(2290-2292)ggC>ggT	p.G764G	GPR124_ENST00000315215.7_Silent_p.G547G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	764					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G757G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGTGGGGGGCGCCGGGGCAG	0.662													C|||	1	0.000199681	0	0.0014	5008	,	,		17926	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	33	35	34		2292	3.5	0.8	8	dbSNP_134	34	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPR124	NM_032777.9		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		764/1339	37696506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2292C>T	8.37:g.37696506C>T			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G764	ENST00000412232.2	37	c.2292	CCDS6097.2	8																																																																																			GPR124	-	NULL	ENSG00000020181		0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	-	0	50	0	C			37696506	1	tier1	rs147055217	no_errors	ENST00000412232	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.025	T	T	37696506	C	T	37696506	2	4	58	1	0	0	0	0	0	0	0	1	6664	755	27	1		1	GPR124	8	37696506	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3692	37696506	108667516	985	15368											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37729770	37729770	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactcaggaggctctccGtcagacgcgtttccagcaac	9	7	12	13	3	3	2	2	0	1	2	5	4	4	3	2	3	2	3	2	3	1	1	rs142300397		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37729770G>A	ENST00000330843.4	-	4	2562	c.2550C>T	c.(2548-2550)gaC>gaT	p.D850D	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	850					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGGCTCTCCGTCAGACGCGT	0.642																																																	0								G	,	2,4404	4.2+/-10.8	0,2,2201	51	53	52		2550,	-6.9	0	8	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,intron	RAB11FIP1	NM_001002814.2,NM_025151.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	850/1284,	37729770	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2550C>T	8.37:g.37729770G>A			J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D850	ENST00000330843.4	37	c.2550	CCDS34882.1	8																																																																																			RAB11FIP1	-	NULL	ENSG00000156675		0.642	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0	54	0	G	NM_025151		37729770	-1	tier1	rs142300397	no_errors	ENST00000330843	ensembl	human	known	74_37	silent	23.08	50	15	SNP	0.000	A	A	37729770	G	A	37729770	2	1	58	1	0	0	0	0	0	0	0	1	12938	1136	40	1		1	RAB11FIP1	8	37729770	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	33264	37729770	108634252	986	15369											
ASH2L	9070	genome.wustl.edu	37	chr8	37985908	37985908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtacggaaaggtgcctggtAttttgaaatcactgtggatg	11	12	13	5	1	1	1	1	1	0	0	1	3	1	3	1	4	2	2	1	4	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37985908A>G	ENST00000343823.6	+	11	1574	c.1265A>G	c.(1264-1266)tAt>tGt	p.Y422C	ASH2L_ENST00000521652.1_Missense_Mutation_p.Y328C|ASH2L_ENST00000250635.7_Missense_Mutation_p.Y328C|ASH2L_ENST00000428278.2_Missense_Mutation_p.Y328C|ASH2L_ENST00000545394.1_Missense_Mutation_p.Y283C	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	422	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGTGCCTGGTATTTTGAAATC	0.537																																																	0													86	79	81					8																	37985908		2203	4300	6503	SO:0001583	missense	0			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"Zinc fingers, PHD-type"	744	protein-coding gene	gene with protein product		604782	"ash2 (absent, small, or homeotic, Drosophila, homolog)-like"	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1265A>G	8.37:g.37985908A>G	ENSP00000340896:p.Tyr422Cys		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.Y422C	ENST00000343823.6	37	c.1265	CCDS6101.1	8	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878792	0.72294	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.104665	0.64402	D	0.000002	D	0.88847	0.6548	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.947	D	0.90410	0.4409	10	0.87932	D	0	.	16.1323	0.81449	1.0:0.0:0.0:0.0	.	328;422	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	C	422;328;283;328;328	ENSP00000340896:Y422C;ENSP00000250635:Y328C;ENSP00000443606:Y283C;ENSP00000395310:Y328C;ENSP00000430259:Y328C	ENSP00000250635:Y328C	Y	+	2	0	ASH2L	38105065	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.896000	0.63222	2.223000	0.72356	0.454000	0.30748	TAT	ASH2L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000129691		0.537	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASH2L	HGNC	protein_coding	OTTHUMT00000376749.4	-	0	62	0	A	NM_004674		37985908	1	tier1	-	no_errors	ENST00000343823	ensembl	human	known	74_37	missense	29.35	65	27	SNP	1.000	G	G	37985908	A	G	37985908	3	3	58	1	0	0	0	0	1	0	0	0	1043	449	16	4	1307	4	ASH2L	8	37985908	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	256138	37985908	108378114	987	15370											
ADAM32	203102	genome.wustl.edu	37	chr8	39114763	39114763	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcttctaggtttccTcattgctcttcctattctca	5	17	5	14	0	4	0	2	0	3	0	7	0	6	0	3	2	1	3	3	2	2	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39114763T>A	ENST00000379907.4	+	19	2190	c.2063T>A	c.(2062-2064)cTc>cAc	p.L688H	ADAM32_ENST00000437682.2_Missense_Mutation_p.L589H|ADAM32_ENST00000519315.1_Missense_Mutation_p.L582H	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	688						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTAGGTTTCCTCATTGCTCTT	0.373																																																	0													105	107	107					8																	39114763		1821	4086	5907	SO:0001583	missense	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2063T>A	8.37:g.39114763T>A	ENSP00000369238:p.Leu688His		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L688H	ENST00000379907.4	37	c.2063	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	T	7.647	0.682026	0.14907	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87809	-2.3;-2.3;-2.3	4.39	-0.895	0.10560	.	0.968910	0.08356	N	0.958394	T	0.76212	0.3956	L	0.45352	1.415	0.09310	N	1	B;B;P;B	0.34780	0.022;0.125;0.468;0.041	B;B;B;B	0.28784	0.027;0.015;0.094;0.078	T	0.63695	-0.6579	10	0.42905	T	0.14	.	1.0174	0.01510	0.4195:0.1704:0.0933:0.3168	.	589;112;582;688	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	H	589;582;688	ENSP00000405978:L589H;ENSP00000429422:L582H;ENSP00000369238:L688H	ENSP00000369238:L688H	L	+	2	0	ADAM32	39233920	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	-0.113000	0.10774	-0.108000	0.12066	-2.162000	0.00326	CTC	ADAM32	-	NULL	ENSG00000197140		0.373	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0	28	0	T	NM_145004		39114763	1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.001	A	A	39114763	T	A	39114763	3	1	58	1	0	0	0	0	1	0	0	0	249	1551	54	5	2137	5	ADAM32	8	39114763	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1128855	39114763	107249259	988	15371											
IDO1	3620	genome.wustl.edu	37	chr8	39785442	39785442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaaatccctcagtccGtgagtttgtcctttcaaaag	11	12	8	10	1	3	2	3	1	0	1	6	2	6	2	3	0	0	1	3	0	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39785442G>A	ENST00000518237.1	+	10	1589	c.950G>A	c.(949-951)cGt>cAt	p.R317H	IDO1_ENST00000522495.1_Missense_Mutation_p.R317H|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	317					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CCCTCAGTCCGTGAGTTTGTC	0.507																																																	0													52	49	50					8																	39785442		1959	4165	6124	SO:0001583	missense	0			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.950G>A	8.37:g.39785442G>A	ENSP00000430950:p.Arg317His		Q540B4	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.R317H	ENST00000518237.1	37	c.950	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308570	0.81247	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.57752	0.38;0.38	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	T	0.76205	0.3955	M	0.88979	2.995	0.36738	D	0.882088	D	0.89917	1.0	D	0.97110	1.0	T	0.82924	-0.0216	9	.	.	.	-16.2247	14.4859	0.67616	0.0:0.0:1.0:0.0	.	317	P14902	I23O1_HUMAN	H	317	ENSP00000430505:R317H;ENSP00000430950:R317H	.	R	+	2	0	IDO1	39904599	1.000000	0.71417	0.875000	0.34327	0.182000	0.23217	3.978000	0.56881	2.793000	0.96121	0.563000	0.77884	CGT	IDO1	-	pfam_Indolamine_dOase	ENSG00000131203		0.507	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	HGNC	protein_coding	OTTHUMT00000376987.1	-	0	121	0	G	NM_002164		39785442	1	tier1	-	no_errors	ENST00000518237	ensembl	human	known	74_37	missense	29.52	117	49	SNP	0.776	A	A	39785442	G	A	39785442	3	1	58	1	0	0	0	0	1	0	0	0	7528	1145	40	1	988	1	IDO1	8	39785442	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	670679	39785442	106578580	989	15372											
IDO2	169355	genome.wustl.edu	37	chr8	39871110	39871110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacaacccagcaatgcctgCagggctgatgtatgaaggag	13	6	13	9	0	0	3	0	2	0	1	0	4	0	4	2	2	4	4	2	2	4	1	rs554438467	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39871110C>T	ENST00000389060.4	+	9	746	c.746C>T	c.(745-747)gCa>gTa	p.A249V	IDO2_ENST00000502986.2_Missense_Mutation_p.A262V|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	249					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GCAATGCCTGCAGGGCTGATG	0.488																																																	0													117	109	111					8																	39871110		1907	4119	6026	SO:0001583	missense	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.746C>T	8.37:g.39871110C>T	ENSP00000426447:p.Ala249Val		A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.A262V	ENST00000389060.4	37	c.785		8	.	.	.	.	.	.	.	.	.	.	C	9.687	1.150899	0.21371	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.42900	0.96;0.96	5.48	-9.67	0.00531	.	1.112050	0.06650	N	0.762558	T	0.12817	0.0311	N	0.03177	-0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.13308	-1.0514	9	.	.	.	.	3.969	0.09444	0.1516:0.1284:0.0789:0.6412	.	262;249	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	V	262;249	ENSP00000443432:A262V;ENSP00000426447:A249V	.	A	+	2	0	IDO2	39990267	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.746000	0.04829	-1.275000	0.02417	-0.142000	0.14014	GCA	IDO2	-	pfam_Indolamine_dOase	ENSG00000188676		0.488	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	-	0	65	0	C	NM_194294		39871110	1	tier1	-	no_errors	ENST00000502986	ensembl	human	known	74_37	missense	35.29	55	30	SNP	0.000	T	T	39871110	C	T	39871110	3	4	58	1	0	0	0	0	1	0	0	0	7529	710	25	3	823	3	IDO2	8	39871110	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	85668	39871110	106492912	990	15373											
IDO2	169355	genome.wustl.edu	37	chr8	39871188	39871188	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagagcacagtgcttcAtgcctttgatgagttcttag	9	13	10	9	0	3	3	2	2	1	1	3	3	3	3	1	0	4	4	1	0	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39871188A>G	ENST00000389060.4	+	9	824	c.824A>G	c.(823-825)cAt>cGt	p.H275R	IDO2_ENST00000502986.2_Missense_Mutation_p.H288R|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	275					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACAGTGCTTCATGCCTTTGAT	0.493																																																	0													83	79	80					8																	39871188		1939	4145	6084	SO:0001583	missense	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"indoleamine-pyrrole 2,3 dioxygenase-like 1"	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.824A>G	8.37:g.39871188A>G	ENSP00000426447:p.His275Arg		A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.H288R	ENST00000389060.4	37	c.863		8	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797583	0.70567	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.43294	0.95;0.95	5.48	5.48	0.80851	.	0.145914	0.64402	D	0.000008	T	0.62696	0.2449	M	0.84326	2.69	0.40449	D	0.980127	D;D	0.55605	0.965;0.972	P;P	0.57468	0.726;0.821	T	0.68432	-0.5410	9	.	.	.	.	15.1023	0.72288	1.0:0.0:0.0:0.0	.	288;275	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	R	288;275	ENSP00000443432:H288R;ENSP00000426447:H275R	.	H	+	2	0	IDO2	39990345	1.000000	0.71417	0.490000	0.27465	0.623000	0.37688	8.644000	0.91044	2.218000	0.71995	0.529000	0.55759	CAT	IDO2	-	pfam_Indolamine_dOase	ENSG00000188676		0.493	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	-	0	89	0	A	NM_194294		39871188	1	tier1	-	no_errors	ENST00000502986	ensembl	human	known	74_37	missense	14.29	108	18	SNP	0.993	G	G	39871188	A	G	39871188	3	3	58	1	0	0	0	0	1	0	0	0	7529	217	8	4	901	4	IDO2	8	39871188	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	78	39871188	106492834	991	15374											
ZMAT4	79698	genome.wustl.edu	37	chr8	40554909	40554909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttatccaccatgtcGgcatcacttccctgcgcagg	6	13	8	14	2	2	0	1	0	1	0	5	0	4	0	3	2	1	3	3	2	1	4	rs149820458		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:40554909G>A	ENST00000297737.6	-	4	350	c.204C>T	c.(202-204)gcC>gcT	p.A68A	ZMAT4_ENST00000315769.7_Silent_p.A68A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	68						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCACCATGTCGGCATCACTTC	0.478													G|||	1	0.000199681	0	0	5008	,	,		15983	0		0.001	False		,,,				2504	0																0								G	,	2,4404	4.2+/-10.8	0,2,2201	83	71	75		204,204	-7.7	0.7	8	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZMAT4	NM_001135731.1,NM_024645.2	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	68/154,68/230	40554909	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.204C>T	8.37:g.40554909G>A			Q8WUT8	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.A68	ENST00000297737.6	37	c.204	CCDS34885.1	8																																																																																			ZMAT4	-	NULL	ENSG00000165061		0.478	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	HGNC	protein_coding	OTTHUMT00000376950.1	-	0	68	0	G	NM_024645		40554909	-1	tier1	rs149820458	no_errors	ENST00000297737	ensembl	human	known	74_37	silent	27.38	60	23	SNP	0.966	A	A	40554909	G	A	40554909	2	1	58	1	0	0	0	0	0	0	0	1	17742	1103	39	1		1	ZMAT4	8	40554909	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	683721	40554909	105809113	992	15375											
MYST3	7994	genome.wustl.edu	37	chr8	41838388	41838388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcatacgggtgagtggcgGatcacaacactccatgtgaa	11	8	13	9	2	1	2	1	2	0	0	2	3	2	3	1	4	2	1	1	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:41838388G>T	ENST00000396930.3	-	6	1426	c.883C>A	c.(883-885)Ccg>Acg	p.P295T	KAT6A_ENST00000406337.1_Missense_Mutation_p.P295T|KAT6A_ENST00000265713.2_Missense_Mutation_p.P295T|KAT6A_ENST00000485568.1_Missense_Mutation_p.P295T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	295	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P295A(1)									GTGAGTGGCGGATCACAACAC	0.368																																																	1	Substitution - Missense(1)	lung(1)											161	164	163					8																	41838388		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.883C>A	8.37:g.41838388G>T	ENSP00000380136:p.Pro295Thr		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P295T	ENST00000396930.3	37	c.883	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816609	0.50633	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.89485	-2.51;-2.51;-2.51;-2.52	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000002	D	0.95033	0.8392	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.94260	0.7501	10	0.40728	T	0.16	-16.7089	19.205	0.93726	0.0:0.0:1.0:0.0	.	295;295	A5PLL3;Q92794	.;KAT6A_HUMAN	T	295	ENSP00000265713:P295T;ENSP00000385888:P295T;ENSP00000380136:P295T;ENSP00000430606:P295T	ENSP00000265713:P295T	P	-	1	0	KAT6A	41957545	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.420000	0.97426	2.596000	0.87737	0.563000	0.77884	CCG	KAT6A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000083168		0.368	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0	28	0	G	NM_006766		41838388	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	41838388	G	T	41838388	3	4	58	1	0	0	0	0	1	0	0	0	10142	1174	41	3	5183	3	MYST3	8	41838388	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1283479	41838388	104525634	993	15376											
SLC20A2	6575	genome.wustl.edu	37	chr8	42302215	42302215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagagccacacaaaaaaagCgaacaggagggcgacaccaa	20	0	11	10	2	0	1	0	0	0	1	0	5	0	2	2	2	3	0	2	2	6	0	rs140978915		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:42302215C>T	ENST00000342228.3	-	6	1048	c.679G>A	c.(679-681)Gct>Act	p.A227T	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A227T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A227T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	227					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAAAAAAAGCGAACAGGAGG	0.493																																																	0								C	THR/ALA	0,4406		0,0,2203	172	135	147		679	5.8	1	8	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC20A2	NM_006749.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	227/653	42302215	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.679G>A	8.37:g.42302215C>T	ENSP00000340465:p.Ala227Thr			Missense_Mutation	SNP	pfam_Phos_transporter	p.A227T	ENST00000342228.3	37	c.679	CCDS6132.1	8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092237	0.76756	0.0	1.16E-4	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.92397	-3.03;-3.03;-3.03	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.94974	0.8119	10	0.49607	T	0.09	-33.3646	17.4765	0.87660	0.0:1.0:0.0:0.0	.	227	Q08357	S20A2_HUMAN	T	227	ENSP00000340465:A227T;ENSP00000429754:A227T;ENSP00000429712:A227T	ENSP00000340465:A227T	A	-	1	0	SLC20A2	42421372	1.000000	0.71417	0.977000	0.42913	0.033000	0.12548	4.500000	0.60387	2.728000	0.93425	0.655000	0.94253	GCT	SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.493	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	-	0	36	0	C			42302215	-1	tier1	rs140978915	no_errors	ENST00000342228	ensembl	human	known	74_37	missense	23.81	48	15	SNP	1.000	T	T	42302215	C	T	42302215	3	4	58	1	0	0	0	0	1	0	0	0	14484	768	27	1	1303	1	SLC20A2	8	42302215	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	463827	42302215	104061807	994	15377											
HOOK3	84376	genome.wustl.edu	37	chr8	42814435	42814435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggaagaaattgctcaaaGatgccatgaactggatatgc	17	8	10	6	0	1	3	1	1	0	2	1	5	1	5	1	2	4	1	1	2	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:42814435G>A	ENST00000307602.4	+	8	793	c.593G>A	c.(592-594)aGa>aAa	p.R198K		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	198					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATTGCTCAAAGATGCCATGAA	0.368			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													121	120	120					8																	42814435		2203	4300	6503	SO:0001583	missense	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.593G>A	8.37:g.42814435G>A	ENSP00000305699:p.Arg198Lys		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_t-SNARE	p.R198K	ENST00000307602.4	37	c.593	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364039	0.82353	.	.	ENSG00000168172	ENST00000307602	T	0.18174	2.23	5.7	5.7	0.88788	.	0.047152	0.85682	D	0.000000	T	0.31734	0.0806	L	0.33137	0.985	0.46542	D	0.999097	D;D	0.76494	0.999;0.965	D;P	0.77557	0.99;0.846	T	0.01545	-1.1328	10	0.19590	T	0.45	-5.8678	19.4515	0.94869	0.0:0.0:1.0:0.0	.	198;198	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	K	198	ENSP00000305699:R198K	ENSP00000305699:R198K	R	+	2	0	HOOK3	42933592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.409000	0.97331	2.683000	0.91414	0.655000	0.94253	AGA	HOOK3	-	pfam_Hook-related_fam	ENSG00000168172		0.368	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	-	0	21	0	G	NM_032410		42814435	1	tier1	-	no_errors	ENST00000307602	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A	A	42814435	G	A	42814435	3	1	58	1	0	0	0	0	1	0	0	0	7311	942	33	3	623	3	HOOK3	8	42814435	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	512220	42814435	103549587	995	15378											
PRKDC	5591	genome.wustl.edu	37	chr8	48691161	48691161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagagcgtgagagctggcGaagtgggagcggagcgccag	10	4	19	8	4	1	2	1	1	0	2	1	6	1	4	1	3	4	1	1	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:48691161G>A	ENST00000314191.2	-	84	11765	c.11709C>T	c.(11707-11709)ttC>ttT	p.F3903F	PRKDC_ENST00000338368.3_Silent_p.F3872F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3904	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGAGCTGGCGAAGTGGGAGC	0.577								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													35	36	36					8																	48691161		2017	4172	6189	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11709C>T	8.37:g.48691161G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F3903	ENST00000314191.2	37	c.11709		8																																																																																			PRKDC	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000253729		0.577	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	30	0	G	NM_001081640		48691161	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	13.33	39	6	SNP	0.018	A	A	48691161	G	A	48691161	2	1	58	1	0	0	0	0	0	0	0	1	12563	1049	37	1		1	PRKDC	8	48691161	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5876726	48691161	97672861	996	15379											
PRKDC	5591	genome.wustl.edu	37	chr8	48734354	48734354	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttgtttattgagagcCtagtggagaaaagttaataa	14	13	10	4	0	1	2	0	1	1	2	1	4	1	2	1	1	1	2	1	1	6	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:48734354C>A	ENST00000523565.1	-	65	8978		c.e65-1		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TATTGAGAGCCTAGTGGAGAA	0.388								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													40	39	39					8																	48734354		1828	4080	5908	SO:0001630	splice_region_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.4531-1G>T	8.37:g.48734354C>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	-	e66-1	ENST00000523565.1	37	c.8920-1		8	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879987	0.72294	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.73	0.91731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48896907	1.000000	0.71417	0.976000	0.42696	0.661000	0.39034	7.445000	0.80570	2.497000	0.84241	0.650000	0.86243	.	PRKDC	-	-	ENSG00000253729		0.388	PRKDC-002	KNOWN	basic	processed_transcript	PRKDC	HGNC	protein_coding	OTTHUMT00000377896.1	-	0	54	0	C	NM_001081640	Intron	48734354	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	splice_site	25.97	57	20	SNP	1.000	A	A	48734354	C	A	48734354	5	1	58	1	0	0	0	0	0	0	1	0	12563	695	24	3	3552	3	PRKDC	8	48734354	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	43193	48734354	97629668	997	15380											
SNTG1	54212	genome.wustl.edu	37	chr8	51465618	51465618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacatctgcaggcagaatgCctttcaagtcattgctgtgg	10	11	11	9	0	3	1	2	0	1	1	3	2	3	1	1	2	4	3	1	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:51465618C>T	ENST00000522124.1	+	12	1350	c.689C>T	c.(688-690)gCc>gTc	p.A230V	SNTG1_ENST00000276467.5_Missense_Mutation_p.A230V|SNTG1_ENST00000517473.1_Missense_Mutation_p.A230V|SNTG1_ENST00000518864.1_Missense_Mutation_p.A230V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	230					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGGCAGAATGCCTTTCAAGTC	0.418																																																	0													138	119	125					8																	51465618		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.689C>T	8.37:g.51465618C>T	ENSP00000429842:p.Ala230Val		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.A230V	ENST00000522124.1	37	c.689	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915712	0.92178	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.74647	2.275	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.69307	0.963;0.956	T	0.69877	-0.5026	10	0.33141	T	0.24	.	17.7901	0.88550	0.0:1.0:0.0:0.0	.	230;230	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	230	ENSP00000429276:A230V;ENSP00000429842:A230V;ENSP00000431123:A230V;ENSP00000276467:A230V	ENSP00000276467:A230V	A	+	2	0	SNTG1	51628171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.985000	0.76193	2.437000	0.82529	0.558000	0.71614	GCC	SNTG1	-	smart_Pleckstrin_homology	ENSG00000147481		0.418	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0	51	0	C			51465618	1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	39.44	43	28	SNP	1.000	T	T	51465618	C	T	51465618	3	4	58	1	0	0	0	0	1	0	0	0	14919	739	26	3	727	3	SNTG1	8	51465618	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2731264	51465618	94898404	998	15381											
PXDNL	137902	genome.wustl.edu	37	chr8	52321321	52321321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggtggtccccggccaGgaaacaggggctctcctgct	5	6	15	15	2	1	0	0	0	1	0	3	1	2	1	5	7	2	2	5	7	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:52321321G>T	ENST00000356297.4	-	17	2963	c.2863C>A	c.(2863-2865)Ctg>Atg	p.L955M	PXDNL_ENST00000543296.1_Missense_Mutation_p.L955M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	955					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCCCGGCCAGGAAACAGGGG	0.652																																																	0													12	14	13					8																	52321321		1967	4142	6109	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2863C>A	8.37:g.52321321G>T	ENSP00000348645:p.Leu955Met		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L955M	ENST00000356297.4	37	c.2863	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491529	0.26774	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.75154	-0.91;-0.91	4.02	4.02	0.46733	.	0.175082	0.27159	N	0.020655	T	0.81331	0.4800	M	0.69358	2.11	0.28085	N	0.932047	D	0.59767	0.986	D	0.67103	0.949	T	0.73933	-0.3826	10	0.72032	D	0.01	.	7.688	0.28550	0.12:0.0:0.88:0.0	.	955	A1KZ92	PXDNL_HUMAN	M	955	ENSP00000348645:L955M;ENSP00000444865:L955M	ENSP00000348645:L955M	L	-	1	2	PXDNL	52483874	1.000000	0.71417	0.005000	0.12908	0.004000	0.04260	1.636000	0.37144	1.775000	0.52247	0.655000	0.94253	CTG	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.652	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	58	0	G	NM_144651		52321321	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.997	T	T	52321321	G	T	52321321	3	4	58	1	0	0	0	0	1	0	0	0	12893	991	35	3	1556	3	PXDNL	8	52321321	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	855703	52321321	94042701	999	15382											
PXDNL	137902	genome.wustl.edu	37	chr8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgaagagcatgcagggcGcgtgggtgccccgggggtcg	5	4	21	11	6	0	1	0	0	0	1	1	2	0	1	2	4	3	2	2	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682																																																	0													19	23	22					8																	52321614		2025	4143	6168	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2570C>T	8.37:g.52321614G>A	ENSP00000348645:p.Ala857Val		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.A857V	ENST00000356297.4	37	c.2570	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	7.521	0.656623	0.14580	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.49	0.493	0.16878	.	0.753446	0.11213	N	0.587551	T	0.38746	0.1052	N	0.11756	0.17	0.09310	N	1	P	0.37398	0.593	B	0.29862	0.108	T	0.15009	-1.0452	10	0.30854	T	0.27	.	4.9674	0.14098	0.2166:0.1744:0.609:0.0	.	857	A1KZ92	PXDNL_HUMAN	V	857	ENSP00000348645:A857V;ENSP00000444865:A857V	ENSP00000348645:A857V	A	-	2	0	PXDNL	52484167	0.814000	0.29104	0.000000	0.03702	0.000000	0.00434	3.338000	0.52128	-0.162000	0.10964	-1.087000	0.02190	GCG	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.682	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	40	0	G	NM_144651		52321614	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.064	A	A	52321614	G	A	52321614	3	1	58	1	0	0	0	0	1	0	0	0	12893	1087	38	1	1849	1	PXDNL	8	52321614	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	293	52321614	94042408	1000	15383											
NPBWR1	2831	genome.wustl.edu	37	chr8	53852639	53852639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggcgggcaactccgccGtgctgtacgtgttgctgcgg	3	10	16	12	5	1	0	0	0	1	0	2	0	2	0	2	3	5	5	2	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:53852639G>A	ENST00000331251.3	+	1	1649	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	58					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CAACTCCGCCGTGCTGTACGT	0.677																																																	0													43	36	38					8																	53852639		2203	4300	6503	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.172G>A	8.37:g.53852639G>A	ENSP00000330284:p.Val58Met		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.V58M	ENST00000331251.3	37	c.172	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.127856	0.94473	.	.	ENSG00000183729	ENST00000331251	D	0.84800	-1.9	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000236	D	0.95538	0.8550	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97409	1.0001	10	0.87932	D	0	.	17.9109	0.88934	0.0:0.0:1.0:0.0	.	58	P48145	NPBW1_HUMAN	M	58	ENSP00000330284:V58M	ENSP00000330284:V58M	V	+	1	0	NPBWR1	54015192	1.000000	0.71417	0.950000	0.38849	0.987000	0.75469	7.538000	0.82048	2.457000	0.83068	0.655000	0.94253	GTG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183729		0.677	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0	84	0	G	NM_005285		53852639	1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	32.99	65	32	SNP	1.000	A	A	53852639	G	A	53852639	3	1	58	1	0	0	0	0	1	0	0	0	10607	1145	40	1	174	1	NPBWR1	8	53852639	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1531025	53852639	92511383	1001	15384											
OPRK1	4986	genome.wustl.edu	37	chr8	54147421	54147421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccttcaagggtgtgcGgaagtccaaagccttcacgg	8	10	12	11	2	2	0	2	0	0	0	3	1	3	1	3	3	3	0	3	3	3	3	rs201421010		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:54147421G>A	ENST00000265572.3	-	3	805	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	OPRK1_ENST00000520287.1_Missense_Mutation_p.R170C|OPRK1_ENST00000524278.1_Missense_Mutation_p.R81C|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	170					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AAGGGTGTGCGGAAGTCCAAA	0.507																																																	0													119	100	106					8																	54147421		2203	4300	6503	SO:0001583	missense	0				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.508C>T	8.37:g.54147421G>A	ENSP00000265572:p.Arg170Cys		E5RHC9|Q499G4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R170C	ENST00000265572.3	37	c.508	CCDS6152.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.268547	0.95429	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.39406	1.08;1.08;1.08	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84082	0.0385	10	0.87932	D	0	.	20.3928	0.98949	0.0:0.0:1.0:0.0	.	170	P41145	OPRK_HUMAN	C	170;81;170;156	ENSP00000265572:R170C;ENSP00000430923:R81C;ENSP00000429706:R170C	ENSP00000265572:R170C	R	-	1	0	OPRK1	54309974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.711000	0.98735	2.813000	0.96785	0.655000	0.94253	CGC	OPRK1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Opioid_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000082556		0.507	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRK1	HGNC	protein_coding	OTTHUMT00000378048.1	-	0	86	0	G			54147421	-1	tier1	rs201421010	no_errors	ENST00000265572	ensembl	human	known	74_37	missense	30.23	60	26	SNP	1.000	A	A	54147421	G	A	54147421	3	1	58	1	0	0	0	0	1	0	0	0	10924	1116	39	1	642	1	OPRK1	8	54147421	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	294782	54147421	92216601	1002	15385											
TCEA1	6917	genome.wustl.edu	37	chr8	54900772	54900772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgaaacataagtatctCgagcatttgtctcatccttt	12	14	7	8	1	2	1	1	1	2	0	5	3	3	2	1	1	2	2	1	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:54900772C>T	ENST00000521604.2	-	5	771	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	TCEA1_ENST00000396401.3_Missense_Mutation_p.R102Q|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	123					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATAAGTATCTCGAGCATTTGT	0.453			T	PLAG1	salivary adenoma																																			Dom	yes		8	8q11.2	6917	"transcription elongation factor A (SII), 1"		E	0													104	102	103					8																	54900772		1933	4107	6040	SO:0001583	missense	0			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"General transcription factors"	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.368G>A	8.37:g.54900772C>T	ENSP00000428426:p.Arg123Gln		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.R123Q	ENST00000521604.2	37	c.368	CCDS47858.1	8	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768392	0.49680	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	.	.	.	5.63	4.7	0.59300	Transcription elongation factor S-II, central domain (1);	0.284730	0.34628	N	0.003801	T	0.40909	0.1136	N	0.14661	0.345	0.80722	D	1	B;B	0.18013	0.025;0.013	B;B	0.26969	0.075;0.004	T	0.19451	-1.0305	9	0.15499	T	0.54	-5.5623	15.2484	0.73523	0.0:0.7459:0.2541:0.0	.	102;123	P23193-2;P23193	.;TCEA1_HUMAN	Q	102;123	.	ENSP00000395483:R102Q	R	-	2	0	TCEA1	55063325	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.379000	0.59575	2.818000	0.97014	0.591000	0.81541	CGA	TCEA1	-	superfamily_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000187735		0.453	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA1	HGNC	protein_coding	OTTHUMT00000377975.2	-	0	32	0	C	NM_006756		54900772	-1	tier1	-	no_errors	ENST00000521604	ensembl	human	known	74_37	missense	25.42	44	15	SNP	1.000	T	T	54900772	C	T	54900772	3	4	58	1	0	0	0	0	1	0	0	0	15714	884	31	1	561	1	TCEA1	8	54900772	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	753351	54900772	91463250	1003	15386											
MRPL15	29088	genome.wustl.edu	37	chr8	55055256	55055256	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacggcaaaagttaatattGaagtacagttggcttcagaa	15	12	9	5	1	1	2	1	1	0	1	1	2	1	2	0	2	2	5	0	2	8	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:55055256G>T	ENST00000260102.4	+	4	537	c.463G>T	c.(463-465)Gaa>Taa	p.E155*		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	155					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			AGTTAATATTGAAGTACAGTT	0.373																																																	0													102	93	96					8																	55055256		2203	4300	6503	SO:0001587	stop_gained	0			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.463G>T	8.37:g.55055256G>T	ENSP00000260102:p.Glu155*		Q96Q54|Q9H0Y1	Nonsense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.E155*	ENST00000260102.4	37	c.463	CCDS6158.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.526239	0.96431	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-46.5543	19.4129	0.94683	0.0:0.0:1.0:0.0	.	.	.	.	X	155	.	ENSP00000260102:E155X	E	+	1	0	MRPL15	55217809	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.752000	0.98900	2.652000	0.90054	0.655000	0.94253	GAA	MRPL15	-	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	ENSG00000137547		0.373	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	HGNC	protein_coding	OTTHUMT00000378254.1		0	56	0	G	NM_014175		55055256	1			no_errors	ENST00000260102	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	T	T	55055256	G	T	55055256	4	4	58	1	0	0	0	0	0	1	0	0	9818	1291	45	3	477	3	MRPL15	8	55055256	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	154484	55055256	91308766	1004	15387											
RP1	6101	genome.wustl.edu	37	chr8	55533894	55533894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacaaagcccgtcggcGcccgcggccctggctcagca	6	4	13	18	5	1	0	1	0	0	0	2	1	1	1	4	4	2	2	4	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:55533894G>A	ENST00000220676.1	+	2	516	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	123					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCCCGTCGGCGCCCGCGGCCC	0.706																																					Colon(91;1014 1389 7634 14542 40420)												0													29	35	33					8																	55533894		2201	4297	6498	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.368G>A	8.37:g.55533894G>A	ENSP00000220676:p.Arg123His			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R123H	ENST00000220676.1	37	c.368	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909128	0.72868	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	4.9	2.71	0.32032	Doublecortin domain (2);	0.180201	0.27482	N	0.019173	D	0.89420	0.6710	M	0.72118	2.19	0.38844	D	0.956135	D	0.89917	1.0	D	0.65874	0.939	D	0.87634	0.2518	10	0.66056	D	0.02	-0.2532	2.2271	0.03987	0.319:0.3255:0.3555:0.0	.	123	P56715	RP1_HUMAN	H	123	ENSP00000220676:R123H	ENSP00000220676:R123H	R	+	2	0	RP1	55696447	1.000000	0.71417	0.867000	0.34043	0.449000	0.32228	2.149000	0.42244	1.020000	0.39573	0.650000	0.86243	CGC	RP1	-	NULL	ENSG00000104237		0.706	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	36	0	G	NM_006269		55533894	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.998	A	A	55533894	G	A	55533894	3	1	58	1	0	0	0	0	1	0	0	0	13577	1087	38	1	370	1	RP1	8	55533894	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	478638	55533894	90830128	1005	15388											
LYN	4067	genome.wustl.edu	37	chr8	56864612	56864612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagaagtctggataatggggGctattacatctctccacgaa	12	11	10	8	1	2	1	0	0	2	1	4	3	3	2	1	3	1	1	1	3	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:56864612G>A	ENST00000519728.1	+	7	871	c.575G>A	c.(574-576)gGc>gAc	p.G192D	LYN_ENST00000520220.2_Missense_Mutation_p.G171D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	192	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GATAATGGGGGCTATTACATC	0.393																																																	0													119	118	118					8																	56864612		2203	4300	6503	SO:0001583	missense	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"SH2 domain containing"	6735	protein-coding gene	gene with protein product		165120	"v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.575G>A	8.37:g.56864612G>A	ENSP00000428924:p.Gly192Asp		A0AVQ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.G192D	ENST00000519728.1	37	c.575	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.272267	0.95429	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.89415	-2.51;-2.51	6.01	6.01	0.97437	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93858	0.7151	10	0.72032	D	0.01	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	262;192	Q6NUK7;P07948	.;LYN_HUMAN	D	192;171	ENSP00000428924:G192D;ENSP00000428424:G171D	ENSP00000428924:G192D	G	+	2	0	LYN	57027166	1.000000	0.71417	0.873000	0.34254	0.886000	0.51366	9.835000	0.99442	2.861000	0.98227	0.650000	0.86243	GGC	LYN	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000254087		0.393	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	-	0	64	0	G	NM_002350		56864612	1	tier1	-	no_errors	ENST00000519728	ensembl	human	known	74_37	missense	19.54	70	17	SNP	1.000	A	A	56864612	G	A	56864612	3	1	58	1	0	0	0	0	1	0	0	0	9143	1203	42	3	597	3	LYN	8	56864612	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1330718	56864612	89499410	1006	15389											
MOS	4342	genome.wustl.edu	37	chr8	57026410	57026410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccggcgcggcagccgCggggcccgaggaagagtggc	6	1	20	14	6	0	1	0	0	0	1	0	3	0	2	4	6	2	1	4	6	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:57026410C>T	ENST00000311923.1	-	1	131	c.132G>A	c.(130-132)ccG>ccA	p.P44P		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	44					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGGCAGCCGCGGGGCCCGAG	0.677																																					Esophageal Squamous(124;373 2870 4778)												0													18	22	21					8																	57026410		2194	4289	6483	SO:0001819	synonymous_variant	0				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.132G>A	8.37:g.57026410C>T			Q3KPG9|Q3KPH0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P44	ENST00000311923.1	37	c.132	CCDS6164.1	8																																																																																			MOS	-	superfamily_Kinase-like_dom	ENSG00000172680		0.677	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOS	HGNC	protein_coding	OTTHUMT00000378174.1	-	0	22	0	C	NM_005372		57026410	-1	tier1	-	no_errors	ENST00000311923	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.019	T	T	57026410	C	T	57026410	2	4	58	1	0	0	0	0	0	0	0	1	9750	755	27	1		1	MOS	8	57026410	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	161798	57026410	89337612	1007	15390											
NSMAF	8439	genome.wustl.edu	37	chr8	59511868	59511868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcgtgaaggtgttcaGacacataattgctttccaat	11	13	7	10	1	1	2	1	1	0	1	4	2	3	2	2	1	1	2	2	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:59511868G>T	ENST00000038176.3	-	19	1720	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.S534Y	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	503	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAGGTGTTCAGACACATAATT	0.373																																																	0													164	160	161					8																	59511868		2203	4300	6503	SO:0001583	missense	0			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1508C>A	8.37:g.59511868G>T	ENSP00000038176:p.Ser503Tyr		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S534Y	ENST00000038176.3	37	c.1601	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704116	0.88924	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.83837	-1.77;-1.77	6.17	6.17	0.99709	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.95589	0.8566	H	0.99011	4.4	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96481	0.9356	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	534;503	Q92636-2;Q92636	.;FAN_HUMAN	Y	503;534	ENSP00000038176:S503Y;ENSP00000411012:S534Y	.	S	-	2	0	NSMAF	59674422	1.000000	0.71417	0.990000	0.47175	0.706000	0.40770	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCT	NSMAF	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000035681		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	-	0	47	0	G	NM_003580		59511868	-1	tier1	-	no_errors	ENST00000427130	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	T	T	59511868	G	T	59511868	3	4	58	1	0	0	0	0	1	0	0	0	10713	942	33	3	1297	3	NSMAF	8	59511868	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2485458	59511868	86852154	1008	15391											
CLVS1	157807	genome.wustl.edu	37	chr8	62212594	62212594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgacattggatttttaCgtacagatgatgccttcatc	9	14	9	9	1	1	3	1	2	0	1	2	4	1	4	2	2	3	1	2	2	2	6	rs368485692		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:62212594C>T	ENST00000519846.1	+	3	680	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.R70C|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	70					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGATTTTTACGTACAGATGA	0.478																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124	105	111		208	5.8	1	8		111	0,8600		0,0,4300	no	missense	CLVS1	NM_173519.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	70/355	62212594	1,13005	2203	4300	6503	SO:0001583	missense	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.208C>T	8.37:g.62212594C>T	ENSP00000428402:p.Arg70Cys		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R70C	ENST00000519846.1	37	c.208	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211162	0.58343	2.27E-4	0.0	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.86694	-2.16;-2.16	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.66506	2.035	0.80722	D	1	D;B;P	0.89917	1.0;0.4;0.892	D;B;P	0.91635	0.999;0.17;0.474	D	0.92617	0.6104	10	0.72032	D	0.01	-24.4501	14.8236	0.70091	0.1438:0.8562:0.0:0.0	.	70;70;70	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	C	70	ENSP00000428402:R70C;ENSP00000325506:R70C	ENSP00000325506:R70C	R	+	1	0	CLVS1	62375148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.167000	0.50793	2.746000	0.94184	0.655000	0.94253	CGT	CLVS1	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom	ENSG00000177182		0.478	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	-	0	60	0	C	NM_173519		62212594	1	tier1	-	no_errors	ENST00000325897	ensembl	human	known	74_37	missense	25.00	51	17	SNP	1.000	T	T	62212594	C	T	62212594	3	4	58	1	0	0	0	0	1	0	0	0	3578	536	19	1	210	1	CLVS1	8	62212594	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2700726	62212594	84151428	1009	15392											
ARFGEF1	10565	genome.wustl.edu	37	chr8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaggcactaacgcGgctctcatccatgtacatcc	8	9	6	18	2	1	0	1	0	1	0	6	0	5	0	4	2	2	3	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1743					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCACTAACGCGGCTCTCATCC	0.547																																																	0													82	74	77					8																	68113742		2203	4300	6503	SO:0001583	missense	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5227C>T	8.37:g.68113742G>A	ENSP00000262215:p.Arg1743Cys		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.R1743C	ENST00000262215.3	37	c.5227	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475915	0.84640	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.5;0.999	D;P;B;P	0.63488	0.915;0.776;0.102;0.841	T	0.70876	-0.4753	10	0.87932	D	0	.	15.057	0.71921	0.0:0.0:0.8524:0.1476	.	1743;1221;567;1197	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	C	1197;1743;74;581	ENSP00000428429:R1197C;ENSP00000262215:R1743C;ENSP00000429560:R74C;ENSP00000430891:R581C	ENSP00000262215:R1743C	R	-	1	0	ARFGEF1	68276296	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.568000	0.60857	1.372000	0.46190	0.650000	0.86243	CGC	ARFGEF1	-	NULL	ENSG00000066777		0.547	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	-	0	59	0	G	NM_006421		68113742	-1	tier1	-	no_errors	ENST00000262215	ensembl	human	known	74_37	missense	28.77	52	21	SNP	1.000	A	A	68113742	G	A	68113742	3	1	58	1	0	0	0	0	1	0	0	0	852	1116	39	1	334	1	ARFGEF1	8	68113742	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5901148	68113742	78250280	1010	15393											
PREX2	80243	genome.wustl.edu	37	chr8	68956723	68956723	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttaattccatcttaagaCggttgaagaacagcaaggca	15	10	9	7	1	1	3	0	1	1	2	2	4	2	3	1	2	2	3	1	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:68956723C>T	ENST00000288368.4	+	8	1118	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	281	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CATCTTAAGACGGTTGAAGAA	0.383																																																	0													116	109	111					8																	68956723		2203	4299	6502	SO:0001630	splice_region_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.840-1C>T	8.37:g.68956723C>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R281W	ENST00000288368.4	37	c.841	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603563	0.66445	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.60672	0.17	5.98	5.98	0.97165	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.929;0.968	T	0.79120	-0.1934	10	0.66056	D	0.02	.	16.6782	0.85285	0.1301:0.8698:0.0:0.0	.	281;281;281	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	W	281	ENSP00000288368:R281W	ENSP00000288368:R281W	R	+	1	2	PREX2	69119277	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	4.528000	0.60580	2.838000	0.97847	0.591000	0.81541	CGG	PREX2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000046889		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	49	0	C	NM_025170	Missense_Mutation	68956723	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	31.13	73	33	SNP	1.000	T	T	68956723	C	T	68956723	5	4	58	1	0	0	0	0	0	0	1	0	12519	550	19	1	871	1	PREX2	8	68956723	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	842981	68956723	77407299	1011	15394											
SLCO5A1	81796	genome.wustl.edu	37	chr8	70617403	70617403	+	Frame_Shift_Del	DEL	T	T	-																															tctctggcaccaagtttcaaTttttttataatgtagcctcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:70617403delT	ENST00000260126.4	-	6	2191	c.1485delA	c.(1483-1485)aaafs	p.K495fs	SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.K440fs|SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.K495fs	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	495						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAAGTTTCAATTTTTTTATAA	0.408																																																	0													82	83	83					8																	70617403		2203	4300	6503	SO:0001589	frameshift_variant	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1485delA	8.37:g.70617403delT	ENSP00000260126:p.Lys495fs		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Frame_Shift_Del	DEL	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.K495fs	ENST00000260126.4	37	c.1485	CCDS6205.1	8																																																																																			SLCO5A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.408	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3		0	59	0	T	NM_030958		70617403	-1	tier1		no_errors	ENST00000260126	ensembl	human	known	74_37	frame_shift_del	16.22	62	12	DEL	1.000	-	-	70617403	T	-	70617403	7	5	58	1	0	1	0	1	0	0	0	0	14776	1490	52	0	1081	0	SLCO5A1	8	70617403	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	1660680	70617403	75746619	1012	15395											
TRPA1	8989	genome.wustl.edu	37	chr8	72966004	72966004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccccgtcttcatccaggCgatctgtgcacttcaaatta	10	12	6	13	2	4	0	2	0	2	0	5	1	5	0	3	1	2	1	3	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:72966004C>T	ENST00000262209.4	-	13	1835	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	543					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTCATCCAGGCGATCTGTGCA	0.473																																																	0													83	69	74					8																	72966004		2203	4300	6503	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1628G>A	8.37:g.72966004C>T	ENSP00000262209:p.Arg543His		A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R543H	ENST00000262209.4	37	c.1628	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437351	0.25900	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71222	-0.55;-0.55	5.21	-0.682	0.11339	Ankyrin repeat-containing domain (4);	0.378160	0.31257	N	0.007976	T	0.44201	0.1282	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.14578	0.011	T	0.31752	-0.9932	10	0.56958	D	0.05	-0.0685	7.079	0.25221	0.1222:0.5741:0.0:0.3037	.	543	O75762	TRPA1_HUMAN	H	395;543	ENSP00000428151:R395H;ENSP00000262209:R543H	ENSP00000262209:R543H	R	-	2	0	TRPA1	73128558	0.223000	0.23663	0.220000	0.23810	0.706000	0.40770	0.281000	0.18810	-0.303000	0.08856	0.561000	0.74099	CGC	TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.473	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	88	0	C	NM_007332		72966004	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	38.89	77	49	SNP	0.072	T	T	72966004	C	T	72966004	3	4	58	1	0	0	0	0	1	0	0	0	16625	768	27	1	1791	1	TRPA1	8	72966004	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2348601	72966004	73398018	1013	15396											
KCNB2	9312	genome.wustl.edu	37	chr8	73849363	73849363	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggccgtggcacagacCgaggtcattgtggacatgaa	10	7	14	10	2	1	2	1	1	0	1	1	4	1	3	2	4	1	2	2	4	1	1	rs146092769		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:73849363C>T	ENST00000523207.1	+	3	2361	c.1773C>T	c.(1771-1773)acC>acT	p.T591T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	591					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGGCACAGACCGAGGTCATTG	0.562																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	69	65	67		1773	-2.7	1	8	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	KCNB2	NM_004770.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		591/912	73849363	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1773C>T	8.37:g.73849363C>T			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.T591	ENST00000523207.1	37	c.1773	CCDS6209.1	8																																																																																			KCNB2	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000182674		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	-	0	22	0	C	NM_004770		73849363	1	tier1	rs146092769	no_errors	ENST00000523207	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.022	T	T	73849363	C	T	73849363	2	4	58	1	0	0	0	0	0	0	0	1	8040	639	23	1		1	KCNB2	8	73849363	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	883359	73849363	72514659	1014	15397											
TMEM70	54968	genome.wustl.edu	37	chr8	74891018	74891018	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttattgggaaggatatgttCgattcttaaatacgccatct	11	16	8	6	2	2	0	0	0	2	0	3	3	2	2	1	2	1	1	1	2	6	8	rs387907070		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:74891018C>T	ENST00000312184.5	+	2	311	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TMEM70_ENST00000517439.1_Nonsense_Mutation_p.R80*|Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	80					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			AGGATATGTTCGATTCTTAAA	0.363																																																	0													135	141	139					8																	74891018		2203	4300	6503	SO:0001587	stop_gained	0			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.238C>T	8.37:g.74891018C>T	ENSP00000312599:p.Arg80*		E9PDY9|Q9NWY5	Nonsense_Mutation	SNP	pfam_DUF1301_TMEM70	p.R80*	ENST00000312184.5	37	c.238	CCDS6215.1	8	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876478	0.51801	.	.	ENSG00000175606	ENST00000517439;ENST00000312184	.	.	.	4.71	2.88	0.33553	.	0.412070	0.22413	N	0.060384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0888	9.7319	0.40366	0.0:0.7659:0.0:0.2341	.	.	.	.	X	80	.	ENSP00000312599:R80X	R	+	1	2	TMEM70	75053572	0.968000	0.33430	0.484000	0.27391	0.157000	0.22087	0.909000	0.28558	0.683000	0.31428	0.651000	0.88453	CGA	TMEM70	-	NULL	ENSG00000175606		0.363	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	-	0	80	0	C	NM_017866		74891018	1	tier1	-	no_errors	ENST00000312184	ensembl	human	known	74_37	nonsense	28.10	87	34	SNP	0.599	T	T	74891018	C	T	74891018	4	4	58	1	0	0	0	0	0	1	0	0	16246	876	31	1	244	1	TMEM70	8	74891018	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1041655	74891018	71473004	1015	15398											
ZFHX4	79776	genome.wustl.edu	37	chr8	77616580	77616580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gataccctgcaacgaatgtgCcacttcttttcccagtttac	9	13	6	13	1	1	0	0	0	1	0	2	2	2	0	3	0	5	2	3	0	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:77616580C>T	ENST00000521891.2	+	2	705	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A86V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A86V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A86V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A86V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGAATGTGCCACTTCTTTT	0.507										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)											179	178	178					8																	77616580		2083	4210	6293	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.257C>T	8.37:g.77616580C>T	ENSP00000430497:p.Ala86Val		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A86V	ENST00000521891.2	37	c.257	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384779	0.61956	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);	0.000000	0.44097	U	0.000482	T	0.42449	0.1203	N	0.14661	0.345	0.58432	D	0.999995	D;D;D;P	0.61697	0.982;0.972;0.99;0.822	P;P;P;B	0.59825	0.734;0.691;0.864;0.269	T	0.44345	-0.9334	10	0.66056	D	0.02	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	86;86;86;86	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	86	ENSP00000430497:A86V;ENSP00000399605:A86V;ENSP00000050961:A86V;ENSP00000428525:A86V;ENSP00000429495:A86V;ENSP00000427775:A86V;ENSP00000427739:A86V;ENSP00000430848:A86V	ENSP00000050961:A86V	A	+	2	0	ZFHX4	77779135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.816000	0.69222	2.882000	0.98803	0.655000	0.94253	GCC	ZFHX4	-	smart_Znf_C2H2-like	ENSG00000091656		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	54	0	C	NM_024721		77616580	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	30.67	52	23	SNP	1.000	T	T	77616580	C	T	77616580	3	4	58	1	0	0	0	0	1	0	0	0	17683	739	26	3	259	3	ZFHX4	8	77616580	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2725562	77616580	68747442	1016	15399											
ZFHX4	79776	genome.wustl.edu	37	chr8	77767965	77767965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgttttcgaacgcaaatGagcaatcttcaactcaaggt	14	10	8	9	3	3	1	2	1	1	0	4	2	3	1	0	1	4	3	0	1	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:77767965G>T	ENST00000521891.2	+	10	9256	c.8808G>T	c.(8806-8808)atG>atT	p.M2936I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2891I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2891I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2910I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2891					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.M2920I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAACGCAAATGAGCAATCTTC	0.473										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)											72	69	70					8																	77767965		1944	4137	6081	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8808G>T	8.37:g.77767965G>T	ENSP00000430497:p.Met2936Ile		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.M2936I	ENST00000521891.2	37	c.8808	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887736	0.52014	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.53938	U	0.000049	D	0.94265	0.8158	N	0.04787	-0.16	0.80722	D	1	P;P;P	0.51653	0.84;0.807;0.947	D;P;D	0.68192	0.939;0.899;0.956	D	0.94467	0.7681	10	0.35671	T	0.21	.	18.8924	0.92410	0.0:0.0:1.0:0.0	.	2891;2891;2936	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2936;2920;2891;2891;2910	ENSP00000430497:M2936I;ENSP00000399605:M2891I;ENSP00000050961:M2891I;ENSP00000430848:M2910I	ENSP00000050961:M2891I	M	+	3	0	ZFHX4	77930520	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.657000	0.98554	2.696000	0.92011	0.655000	0.94253	ATG	ZFHX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000091656		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0	29	0	G	NM_024721		77767965	1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	77767965	G	T	77767965	3	4	58	1	0	0	0	0	1	0	0	0	17683	1290	45	3	8842	3	ZFHX4	8	77767965	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	151385	77767965	68596057	1017	15400											
TPD52	7163	genome.wustl.edu	37	chr8	80963777	80963777	+	Frame_Shift_Del	DEL	T	T	-																															catactttacatcttccagcTttttggtgatgactgagcca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:80963777delT	ENST00000379097.3	-	4	853	c.491delA	c.(490-492)aagfs	p.K164fs	TPD52_ENST00000448733.2_Frame_Shift_Del_p.K164fs|TPD52_ENST00000523395.1_5'Flank|TPD52_ENST00000537855.1_Frame_Shift_Del_p.K164fs|TPD52_ENST00000379096.5_Frame_Shift_Del_p.K124fs|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000520527.1_Frame_Shift_Del_p.K164fs|TPD52_ENST00000518937.1_Frame_Shift_Del_p.K124fs|TPD52_ENST00000517427.1_Frame_Shift_Del_p.K164fs	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	164					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ATCTTCCAGCTTTTTGGTGAT	0.393																																																	0													108	105	106					8																	80963777		2203	4300	6503	SO:0001589	frameshift_variant	0			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.491delA	8.37:g.80963777delT	ENSP00000368391:p.Lys164fs		B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Frame_Shift_Del	DEL	pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold	p.K164fs	ENST00000379097.3	37	c.491	CCDS34912.1	8																																																																																			TPD52	-	pfam_TPD52	ENSG00000076554		0.393	TPD52-006	KNOWN	basic|CCDS	protein_coding	TPD52	HGNC	protein_coding	OTTHUMT00000379539.2		0	41	0	T	NM_005079		80963777	-1	tier1		no_errors	ENST00000537855	ensembl	human	known	74_37	frame_shift_del	16.67	50	10	DEL	1.000	-	-	80963777	T	-	80963777	7	5	58	1	0	1	0	1	0	0	0	0	16445	1609	56	0	272	0	TPD52	8	80963777	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3195812	80963777	65400245	1018	15401											
NBN	4683	genome.wustl.edu	37	chr8	90965666	90965666	+	Frame_Shift_Del	DEL	T	T	-																															ggccacatcatccatttcccTttttttatttgatcttagct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:90965666delT	ENST00000265433.3	-	11	1805	c.1651delA	c.(1651-1653)aggfs	p.R551fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.R469fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	551					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCATTTCCCTTTTTTTATTT	0.323								Homologous recombination																																									0													235	229	231					8																	90965666		2203	4299	6502	SO:0001589	frameshift_variant	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1651delA	8.37:g.90965666delT	ENSP00000265433:p.Arg551fs		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Frame_Shift_Del	DEL	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.R551fs	ENST00000265433.3	37	c.1651	CCDS6249.1	8																																																																																			NBN	-	pirsf_Nibrin_met	ENSG00000104320		0.323	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3		0	72	0	T	NM_001024688		90965666	-1			no_errors	ENST00000265433	ensembl	human	known	74_37	frame_shift_del	5.70	149	9	DEL	1.000	0	-	90965666	T	-	90965666	7	5	58	1	0	1	0	1	0	0	0	0	10229	1608	56	0	637	0	NBN	8	90965666	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	10001889	90965666	55398356	1019	15402											
TMEM55A	55529	genome.wustl.edu	37	chr8	92008950	92008950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcacagcagcgtcttcgtgGaagtgcactacccactgagg	9	8	12	12	2	1	1	0	1	1	0	2	2	1	2	1	2	5	3	1	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:92008950G>A	ENST00000285419.3	-	6	876	c.562C>T	c.(562-564)Cca>Tca	p.P188S		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	188						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CGTCTTCGTGGAAGTGCACTA	0.348																																																	0													63	56	59					8																	92008950		2203	4299	6502	SO:0001583	missense	0			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.562C>T	8.37:g.92008950G>A	ENSP00000285419:p.Pro188Ser		B2R9H4|Q68CU2	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.P188S	ENST00000285419.3	37	c.562	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.118506	0.94385	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.60239	-0.7302	9	0.25106	T	0.35	-27.3016	20.4008	0.98991	0.0:0.0:1.0:0.0	.	188	Q8N4L2	TM55A_HUMAN	S	188;194	.	ENSP00000285419:P188S	P	-	1	0	TMEM55A	92078126	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CCA	TMEM55A	-	pfam_Transmembrane_protein_55A/B	ENSG00000155099		0.348	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	-	0	18	0	G	NM_018710		92008950	-1	tier1	-	no_errors	ENST00000285419	ensembl	human	known	74_37	missense	27.08	33	13	SNP	1.000	A	A	92008950	G	A	92008950	3	1	58	1	0	0	0	0	1	0	0	0	16228	1174	41	3	219	3	TMEM55A	8	92008950	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1043284	92008950	54355072	1020	15403											
TSPYL5	85453	genome.wustl.edu	37	chr8	98289596	98289596	+	Frame_Shift_Del	DEL	C	C	-																															ccaccagctatgacctgaggCcccctccccgcggtgctaca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:98289596delC	ENST00000322128.3	-	1	580	c.477delG	c.(475-477)gggfs	p.G159fs		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	159					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGACCTGAGGCCCCCTCCCCG	0.642																																																	0													55	66	62					8																	98289596		2202	4298	6500	SO:0001589	frameshift_variant	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.477delG	8.37:g.98289596delC	ENSP00000322802:p.Gly159fs		B3KRF0|Q9C0B3	Frame_Shift_Del	DEL	pfam_NAP_family	p.P160fs	ENST00000322128.3	37	c.477	CCDS34927.1	8																																																																																			TSPYL5	-	NULL	ENSG00000180543		0.642	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1		0	42	0	C	NM_033512		98289596	-1	tier1		no_errors	ENST00000322128	ensembl	human	known	74_37	frame_shift_del	29.41	36	15	DEL	0.000	-	-	98289596	C	-	98289596	7	5	58	1	0	1	0	1	0	0	0	0	16710	726	26	0	780	0	TSPYL5	8	98289596	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	6280646	98289596	48074426	1021	15404											
C8orf47	203111	genome.wustl.edu	37	chr8	99102178	99102178	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaagcatggagcatccAgcacgaaatgtagaggcagg	13	6	15	7	1	0	1	0	0	0	1	1	4	1	3	1	4	3	6	1	4	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:99102178A>G	ENST00000318528.3	+	2	1292	c.933A>G	c.(931-933)ccA>ccG	p.P311P	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		311	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGGAGCATCCAGCACGAAATG	0.428																																																	0													118	104	109					8																	99102178		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000318528.3:c.933A>G	8.37:g.99102178A>G			G3V1K4|Q8N1L8	Silent	SNP	NULL	p.P311	ENST00000318528.3	37	c.933	CCDS34929.1	8																																																																																			C8orf47	-	NULL	ENSG00000177459		0.428	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	HGNC	protein_coding	OTTHUMT00000380465.1	-	0	27	0	A			99102178	1	tier1	-	no_errors	ENST00000318528	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.000	G	G	99102178	A	G	99102178	2	3	58	1	0	0	0	0	0	0	0	1	2439	175	7	4		4	C8orf47	8	99102178	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	812582	99102178	47261844	1022	15405											
FBXO43	286151	genome.wustl.edu	37	chr8	101153207	101153207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcaaatccccactctcAtcactactcagctgaccctc	11	9	4	17	0	4	1	4	1	1	0	7	1	5	1	3	1	2	1	3	1	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:101153207A>G	ENST00000428847.2	-	2	1591	c.1275T>C	c.(1273-1275)gaT>gaC	p.D425D		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	425					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCCCACTCTCATCACTACTCA	0.453																																																	0													115	112	113					8																	101153207		1953	4167	6120	SO:0001819	synonymous_variant	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1275T>C	8.37:g.101153207A>G				Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.D425	ENST00000428847.2	37	c.1275	CCDS47904.1	8																																																																																			FBXO43	-	NULL	ENSG00000156509		0.453	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	-	0	49	0	A	XM_209918		101153207	-1	tier1	-	no_errors	ENST00000428847	ensembl	human	known	74_37	silent	34.33	44	23	SNP	0.000	G	G	101153207	A	G	101153207	2	3	58	1	0	0	0	0	0	0	0	1	5774	214	8	4		4	FBXO43	8	101153207	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2051029	101153207	45210815	1023	15406											
SNX31	169166	genome.wustl.edu	37	chr8	101596401	101596401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcatctttttcaagcagcTactcagcaaaaaagcctaag	15	10	6	10	0	4	0	3	0	1	0	4	1	4	0	1	0	5	3	1	0	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:101596401T>C	ENST00000311812.2	-	12	1258	c.1108A>G	c.(1108-1110)Agc>Ggc	p.S370G	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.S271G	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	370					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTCAAGCAGCTACTCAGCAAA	0.388																																																	0													129	114	119					8																	101596401		2203	4300	6503	SO:0001583	missense	0				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1108A>G	8.37:g.101596401T>C	ENSP00000312368:p.Ser370Gly		C9J6L9|Q8N0U9	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S370G	ENST00000311812.2	37	c.1108	CCDS6288.1	8	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988328	0.74589	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.23950	2.22;1.88	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.56769	1.78	0.38972	D	0.958764	D;P	0.57899	0.981;0.745	P;B	0.56563	0.801;0.192	T	0.38436	-0.9661	10	0.62326	D	0.03	-8.1797	12.9573	0.58434	0.0:0.0:0.0:1.0	.	271;370	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	G	370;271	ENSP00000312368:S370G;ENSP00000405024:S271G	ENSP00000312368:S370G	S	-	1	0	SNX31	101665577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.953000	0.56699	2.302000	0.77476	0.533000	0.62120	AGC	SNX31	-	NULL	ENSG00000174226		0.388	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX31	HGNC	protein_coding	OTTHUMT00000379910.1	-	0	21	0	T	NM_152628		101596401	-1	tier1	-	no_errors	ENST00000311812	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	C	C	101596401	T	C	101596401	3	2	58	1	0	0	0	0	1	0	0	0	14946	1522	53	4	226	4	SNX31	8	101596401	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	443194	101596401	44767621	1024	15407											
UBR5	51366	genome.wustl.edu	37	chr8	103277382	103277382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcttgccaggccttGgagtataaaatcctcttttc	7	16	8	10	0	2	0	0	0	2	0	4	1	3	1	3	2	1	2	3	2	3	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:103277382G>T	ENST00000520539.1	-	53	8153	c.7547C>A	c.(7546-7548)cCa>cAa	p.P2516Q	UBR5_ENST00000220959.4_Missense_Mutation_p.P2515Q|UBR5_ENST00000521922.1_Missense_Mutation_p.P2509Q|UBR5_ENST00000518205.1_Missense_Mutation_p.P244Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2516	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCCAGGCCTTGGAGTATAAAA	0.363																																					Ovarian(131;96 1741 5634 7352 27489)												0													117	115	115					8																	103277382		2203	4300	6503	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7547C>A	8.37:g.103277382G>T	ENSP00000429084:p.Pro2516Gln		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.P2516Q	ENST00000520539.1	37	c.7547	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322668	0.81580	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.26	4.39	0.52855	HECT (4);	0.061260	0.64402	D	0.000003	D	0.82365	0.5021	H	0.95260	3.645	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87702	0.2561	10	0.87932	D	0	.	14.165	0.65471	0.0726:0.0:0.9274:0.0	.	2509;2516	E7EMW7;O95071	.;UBR5_HUMAN	Q	2516;2515;244;2509	ENSP00000429084:P2516Q;ENSP00000220959:P2515Q;ENSP00000428693:P244Q;ENSP00000427819:P2509Q	ENSP00000220959:P2515Q	P	-	2	0	UBR5	103346558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	1.336000	0.45506	0.655000	0.94253	CCA	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0	38	0	G	NM_015902		103277382	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	missense	6.06	61	4	SNP	1.000	T	T	103277382	G	T	103277382	3	4	58	1	0	0	0	0	1	0	0	0	16954	1348	47	3	880	3	UBR5	8	103277382	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1680981	103277382	43086640	1025	15408											
UBR5	51366	genome.wustl.edu	37	chr8	103297931	103297931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcttccaaagcagctgctGcagctgcagcacttgtactg	9	10	10	12	0	0	0	0	0	0	0	1	0	1	0	1	0	9	9	1	0	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:103297931G>A	ENST00000520539.1	-	39	5900	c.5294C>T	c.(5293-5295)gCa>gTa	p.A1765V	UBR5_ENST00000220959.4_Missense_Mutation_p.A1765V|UBR5_ENST00000521922.1_Missense_Mutation_p.A1759V|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1765	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCAGCTGCTGCAGCTGCAGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)												0													68	65	66					8																	103297931		2203	4300	6503	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5294C>T	8.37:g.103297931G>A	ENSP00000429084:p.Ala1765Val		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.A1765V	ENST00000520539.1	37	c.5294	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.184686	0.94885	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47177	0.85;0.85;0.85	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.34521	1.04	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.61720	-0.7005	10	0.66056	D	0.02	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1759;1765	E7EMW7;O95071	.;UBR5_HUMAN	V	1765;1765;1759	ENSP00000429084:A1765V;ENSP00000220959:A1765V;ENSP00000427819:A1759V	ENSP00000220959:A1765V	A	-	2	0	UBR5	103367107	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.827000	0.99397	2.687000	0.91594	0.563000	0.77884	GCA	UBR5	-	NULL	ENSG00000104517		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2		0	19	0	G	NM_015902		103297931	-1			no_errors	ENST00000520539	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	103297931	G	A	103297931	3	1	58	1	0	0	0	0	1	0	0	0	16954	1319	46	3	3189	3	UBR5	8	103297931	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	20549	103297931	43066091	1026	15409											
TM7SF4	81501	genome.wustl.edu	37	chr8	105367351	105367351	+	Frame_Shift_Del	DEL	A	A	-																															atctgcatgcaaagctgcttAaaaaaagatcaaagcagccg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:105367351delA	ENST00000297581.2	+	3	1325	c.1276delA	c.(1276-1278)aaafs	p.K427fs	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	427					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAAGCTGCTTAAAAAAAGATC	0.458																																																	0													78	80	79					8																	105367351		2203	4300	6503	SO:0001589	frameshift_variant	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1276delA	8.37:g.105367351delA	ENSP00000297581:p.Lys427fs		B7ZVW2|E7ESG0|Q2M2D5	Frame_Shift_Del	DEL	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.R428fs	ENST00000297581.2	37	c.1276	CCDS6301.1	8																																																																																			DCSTAMP	-	superfamily_ABC1_TM_dom	ENSG00000164935		0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1		0	27	0	A	NM_030788		105367351	1	tier1		no_errors	ENST00000297581	ensembl	human	known	74_37	frame_shift_del	27.27	16	6	DEL	0.229	-	-	105367351	A	-	105367351	7	5	58	1	0	1	0	1	0	0	0	0	16023	363	13	0	1282	0	TM7SF4	8	105367351	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	2069420	105367351	40996671	1027	15410											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110476889	110476889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaaagagttccccttggcGaattttttaacaatactgtc	14	13	6	8	1	0	1	0	0	0	1	2	2	1	1	2	1	2	1	2	1	7	6	rs368232255		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110476889G>A	ENST00000378402.5	+	49	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2610					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443										HNSCC(38;0.096)																																							0								G	LYS/GLU	0,3732		0,0,1866	101	101	101		7828	4	1	8		101	1,8215		0,1,4107	no	missense	PKHD1L1	NM_177531.4	56	0,1,5973	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	2610/4244	110476889	1,11947	1866	4108	5974	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7828G>A	8.37:g.110476889G>A	ENSP00000367655:p.Glu2610Lys		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.E2610K	ENST00000378402.5	37	c.7828	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676324	0.47886	0.0	1.22E-4	ENSG00000205038	ENST00000378402	T	0.80480	-1.38	5.79	3.99	0.46301	Pectin lyase fold/virulence factor (1);	0.265965	0.35708	N	0.003027	T	0.76018	0.3929	L	0.48642	1.525	0.24537	N	0.994086	P	0.51537	0.946	B	0.43867	0.434	T	0.66031	-0.6024	10	0.36615	T	0.2	.	13.5739	0.61862	0.1436:0.0:0.8564:0.0	.	2610	Q86WI1	PKHL1_HUMAN	K	2610	ENSP00000367655:E2610K	ENSP00000367655:E2610K	E	+	1	0	PKHD1L1	110546065	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.388000	0.52509	0.377000	0.24735	-0.797000	0.03246	GAA	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000205038		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	47	0	G	NM_177531		110476889	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.996	A	A	110476889	G	A	110476889	3	1	58	1	0	0	0	0	1	0	0	0	12011	1059	37	1	8022	1	PKHD1L1	8	110476889	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5109538	110476889	35887133	1028	15411											
SYBU	55638	genome.wustl.edu	37	chr8	110587964	110587964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggaaagtctaggcacAgttcgtccctcagagagcca	12	7	10	12	1	2	1	1	0	1	1	4	3	3	2	2	2	1	2	2	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110587964A>G	ENST00000422135.1	-	8	1678	c.1163T>C	c.(1162-1164)cTg>cCg	p.L388P	SYBU_ENST00000276646.9_Missense_Mutation_p.L388P|SYBU_ENST00000440310.1_Missense_Mutation_p.L388P|SYBU_ENST00000419099.1_Missense_Mutation_p.L387P|SYBU_ENST00000529175.1_Missense_Mutation_p.L182P|SYBU_ENST00000529690.1_Missense_Mutation_p.L258P|SYBU_ENST00000532779.1_Missense_Mutation_p.L320P|SYBU_ENST00000528331.1_Missense_Mutation_p.L269P|SYBU_ENST00000533895.1_Missense_Mutation_p.L387P|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000408908.2_Missense_Mutation_p.L388P|SYBU_ENST00000446070.2_Missense_Mutation_p.L387P|SYBU_ENST00000424158.2_Missense_Mutation_p.L393P|SYBU_ENST00000533065.1_Missense_Mutation_p.L269P|SYBU_ENST00000408889.3_Missense_Mutation_p.L269P|SYBU_ENST00000433638.1_Missense_Mutation_p.L388P|SYBU_ENST00000528647.1_Missense_Mutation_p.L387P|SYBU_ENST00000399066.3_Missense_Mutation_p.L385P|SYBU_ENST00000533171.1_Missense_Mutation_p.L388P	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	388	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GTCTAGGCACAGTTCGTCCCT	0.483																																																	0													74	79	77					8																	110587964		1982	4165	6147	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"syntaphilin-like"	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1163T>C	8.37:g.110587964A>G	ENSP00000407118:p.Leu388Pro		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.L388P	ENST00000422135.1	37	c.1163	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	A	10.07	1.248992	0.22880	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	4.62	0.57501	.	0.488467	0.22308	N	0.061771	T	0.47691	0.1459	L	0.39085	1.19	0.53688	D	0.999971	B;D;B;B;B	0.53151	0.01;0.958;0.004;0.01;0.01	B;P;B;B;B	0.51229	0.006;0.663;0.009;0.006;0.006	T	0.44205	-0.9343	9	0.42905	T	0.14	-16.3088	6.0956	0.20019	0.7296:0.0:0.0841:0.1863	.	258;320;387;388;385	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	P	387;393;320;385;387;269;182;388;387;388;387;388;388;388;269;269;258;388	.	ENSP00000276646:L388P	L	-	2	0	SYBU	110657140	0.868000	0.29978	1.000000	0.80357	0.898000	0.52572	1.700000	0.37815	2.251000	0.74343	0.482000	0.46254	CTG	SYBU	-	NULL	ENSG00000147642		0.483	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	-	0	62	0	A	NM_017786		110587964	-1	tier1	-	no_errors	ENST00000276646	ensembl	human	known	74_37	missense	30.00	49	21	SNP	0.998	G	G	110587964	A	G	110587964	3	3	58	1	0	0	0	0	1	0	0	0	15474	188	7	4	832	4	SYBU	8	110587964	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	111075	110587964	35776058	1029	15412											
KCNV1	27012	genome.wustl.edu	37	chr8	110980379	110980379	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttctctgcctttcagtcGcagcatctccatgatactcc	6	15	5	15	1	4	1	1	1	3	0	8	1	5	1	3	0	3	2	3	0	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110980379G>A	ENST00000524391.1	-	4	2473	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.R481*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	481					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCTTTCAGTCGCAGCATCTCC	0.403																																																	0													81	76	78					8																	110980379		2203	4300	6503	SO:0001587	stop_gained	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1441C>T	8.37:g.110980379G>A	ENSP00000435954:p.Arg481*		Q9UHJ4	Nonsense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.R481*	ENST00000524391.1	37	c.1441	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.348827	0.98772	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.52	4.62	0.57501	.	0.523461	0.18547	N	0.138022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.5021	0.67729	0.0:0.0:0.8522:0.1478	.	.	.	.	X	481;481;357	.	ENSP00000297404:R481X	R	-	1	2	KCNV1	111049555	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	5.100000	0.64560	1.256000	0.44068	0.563000	0.77884	CGA	KCNV1	-	prints_K_chnl_volt-dep_Kv8	ENSG00000164794		0.403	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0	47	0	G	NM_014379		110980379	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	nonsense	30.14	51	22	SNP	1.000	A	A	110980379	G	A	110980379	4	1	58	1	0	0	0	0	0	1	0	0	8121	1095	38	1	65	1	KCNV1	8	110980379	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	392415	110980379	35383643	1030	15413											
KCNV1	27012	genome.wustl.edu	37	chr8	110984520	110984520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctttagcatgcgcaGagccctgagcagcctcaaca	10	6	10	15	1	1	2	1	1	0	1	1	2	1	2	3	0	7	4	3	0	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110984520G>T	ENST00000524391.1	-	3	1990	c.958C>A	c.(958-960)Ctg>Atg	p.L320M	KCNV1_ENST00000297404.1_Missense_Mutation_p.L320M|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	320					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGCATGCGCAGAGCCCTGAGC	0.507																																																	0													78	70	73					8																	110984520		2203	4300	6503	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.958C>A	8.37:g.110984520G>T	ENSP00000435954:p.Leu320Met		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.L320M	ENST00000524391.1	37	c.958	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790277	0.70337	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.99158	-5.5;-5.5	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98842	0.9609	L	0.53671	1.685	0.54753	D	0.999982	D	0.89917	1.0	D	0.75484	0.986	D	0.98413	1.0573	10	0.54805	T	0.06	.	12.6462	0.56735	0.0748:0.0:0.9252:0.0	.	320	Q6PIU1	KCNV1_HUMAN	M	320;320;196	ENSP00000435954:L320M;ENSP00000297404:L320M	ENSP00000297404:L320M	L	-	1	2	KCNV1	111053696	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.497000	0.53295	2.817000	0.96982	0.563000	0.77884	CTG	KCNV1	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000164794		0.507	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1		0	36	0	G	NM_014379		110984520	-1			no_errors	ENST00000297404	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	110984520	G	T	110984520	3	4	58	1	0	0	0	0	1	0	0	0	8121	933	33	3	552	3	KCNV1	8	110984520	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4141	110984520	35379502	1031	15414											
CSMD3	114788	genome.wustl.edu	37	chr8	113349856	113349856	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccaattaatgtgtatcCtgggaaacattcaaatgaaa	16	13	6	6	0	1	1	1	1	0	0	3	2	3	2	2	1	1	1	2	1	6	4	rs267601729		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:113349856C>A	ENST00000297405.5	-	43	7001	c.6757G>T	c.(6757-6759)Gga>Tga	p.G2253*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G2149*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G2213*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G2183*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2253	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATGTGTATCCTGGGAAACAT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													106	107	107					8																	113349856		2203	4300	6503	SO:0001587	stop_gained	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6757G>T	8.37:g.113349856C>A	ENSP00000297405:p.Gly2253*		Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G2253*	ENST00000297405.5	37	c.6757	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	50	16.727588	0.99870	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.4929	0.95059	0.0:1.0:0.0:0.0	.	.	.	.	X	2213;2253;1523;2149;2183	.	ENSP00000297405:G2253X	G	-	1	0	CSMD3	113419032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.835000	0.97688	0.650000	0.86243	GGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	39	0	C	NM_052900		113349856	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	25.00	45	15	SNP	1.000	A	A	113349856	C	A	113349856	4	1	58	1	0	0	0	0	0	1	0	0	3955	690	24	3	4482	3	CSMD3	8	113349856	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2365336	113349856	33014166	1032	15415											
TRPS1	7227	genome.wustl.edu	37	chr8	116599766	116599766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagtgttgaagtgctccAgtagtgactgagtatcggca	11	10	13	7	1	0	3	0	3	0	0	2	4	1	3	1	1	2	5	1	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:116599766A>G	ENST00000220888.5	-	4	2282	c.2123T>C	c.(2122-2124)cTg>cCg	p.L708P	TRPS1_ENST00000395715.3_Missense_Mutation_p.L721P|TRPS1_ENST00000519076.1_Missense_Mutation_p.L462P|TRPS1_ENST00000519674.1_Missense_Mutation_p.L708P|TRPS1_ENST00000520276.1_Missense_Mutation_p.L712P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	708	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGTGCTCCAGTAGTGACTG	0.502									Langer-Giedion syndrome																																								0													133	133	133					8																	116599766		2009	4171	6180	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2123T>C	8.37:g.116599766A>G	ENSP00000220888:p.Leu708Pro		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.L721P	ENST00000220888.5	37	c.2162		8	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054126	0.75960	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.29716	0.0742	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.01617	-1.1311	10	0.87932	D	0	.	16.2668	0.82588	1.0:0.0:0.0:0.0	.	712;708;721	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	P	721;708;462;712;708	ENSP00000379065:L721P;ENSP00000220888:L708P;ENSP00000428910:L462P;ENSP00000428680:L712P;ENSP00000429174:L708P	ENSP00000220888:L708P	L	-	2	0	TRPS1	116668941	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.425000	0.80255	2.240000	0.73641	0.533000	0.62120	CTG	TRPS1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000104447		0.502	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	41	0	A	NM_014112		116599766	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	28.00	54	21	SNP	1.000	G	G	116599766	A	G	116599766	3	3	58	1	0	0	0	0	1	0	0	0	16641	188	7	4	1734	4	TRPS1	8	116599766	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	3249910	116599766	29764256	1033	15416											
COLEC10	10584	genome.wustl.edu	37	chr8	120101974	120101974	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcatggcaaagtgggAcgcatggggccgaaaggtaa	14	4	17	6	2	0	0	0	0	0	0	0	3	0	2	1	6	1	4	1	6	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:120101974A>G	ENST00000332843.2	+	2	245	c.204A>G	c.(202-204)ggA>ggG	p.G68G	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	68	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GCAAAGTGGGACGCATGGGGC	0.418																																																	0													129	111	117					8																	120101974		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"Collectins"	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.204A>G	8.37:g.120101974A>G			Q3SYH6|Q6UW19	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G68	ENST00000332843.2	37	c.204	CCDS6327.1	8																																																																																			COLEC10	-	pfam_Collagen	ENSG00000184374		0.418	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC10	HGNC	protein_coding	OTTHUMT00000381225.1	-	0	40	0	A			120101974	1	tier1	-	no_errors	ENST00000332843	ensembl	human	known	74_37	silent	23.81	48	15	SNP	0.489	G	G	120101974	A	G	120101974	2	3	58	1	0	0	0	0	0	0	0	1	3717	262	10	4		4	COLEC10	8	120101974	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	3502208	120101974	26262048	1034	15417											
COL14A1	7373	genome.wustl.edu	37	chr8	121292216	121292216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggccgatgcagattactCggagttggttagcattggca	8	12	14	7	2	0	1	0	0	0	1	1	3	0	2	1	4	3	5	1	4	2	4	rs369127166		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:121292216C>T	ENST00000297848.3	+	29	3794	c.3524C>T	c.(3523-3525)tCg>tTg	p.S1175L	COL14A1_ENST00000247781.3_Missense_Mutation_p.S1080L|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1175L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAGATTACTCGGAGTTGGTT	0.403																																																	0								C	LEU/SER	0,4406		0,0,2203	121	110	113		3524	5.1	0.9	8		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL14A1	NM_021110.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1175/1797	121292216	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3524C>T	8.37:g.121292216C>T	ENSP00000297848:p.Ser1175Leu			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S1175L	ENST00000297848.3	37	c.3524	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742307	0.49151	0.0	1.16E-4	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.83914	-1.78;-1.78;-1.78	5.11	5.11	0.69529	von Willebrand factor, type A (3);	0.242690	0.40728	N	0.001030	T	0.74711	0.3752	L	0.37466	1.105	0.80722	D	1	P	0.49090	0.919	B	0.35655	0.207	T	0.76263	-0.3023	10	0.33940	T	0.23	.	18.7124	0.91662	0.0:1.0:0.0:0.0	.	1175	Q05707	COEA1_HUMAN	L	1175;1175;1080	ENSP00000311809:S1175L;ENSP00000297848:S1175L;ENSP00000247781:S1080L	ENSP00000247781:S1080L	S	+	2	0	COL14A1	121361397	1.000000	0.71417	0.930000	0.37139	0.355000	0.29361	4.844000	0.62846	2.656000	0.90262	0.655000	0.94253	TCG	COL14A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000187955		0.403	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	78	0	C	NM_021110		121292216	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	30.50	98	43	SNP	0.986	T	T	121292216	C	T	121292216	3	4	58	1	0	0	0	0	1	0	0	0	3678	893	31	1	3634	1	COL14A1	8	121292216	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1190242	121292216	25071806	1035	15418											
WDR67	93594	genome.wustl.edu	37	chr8	124153106	124153106	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtttcataagctgataGaagcaggtgaaacccagagc	15	8	10	8	0	1	4	1	2	0	2	1	4	1	4	1	1	4	3	1	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:124153106G>T	ENST00000287380.1	+	18	2695	c.2605G>T	c.(2605-2607)Gaa>Taa	p.E869*	TBC1D31_ENST00000518805.1_Nonsense_Mutation_p.E423*|TBC1D31_ENST00000522420.1_Nonsense_Mutation_p.E764*|TBC1D31_ENST00000327098.5_Nonsense_Mutation_p.E838*|TBC1D31_ENST00000309336.3_Nonsense_Mutation_p.E869*|TBC1D31_ENST00000521676.1_Nonsense_Mutation_p.E746*|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	869						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TAAGCTGATAGAAGCAGGTGA	0.388																																																	0													92	96	95					8																	124153106		2203	4300	6503	SO:0001587	stop_gained	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2605G>T	8.37:g.124153106G>T	ENSP00000287380:p.Glu869*		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.E869*	ENST00000287380.1	37	c.2605	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.738436	0.96865	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	.	.	.	5.76	5.76	0.90799	.	0.486343	0.22567	N	0.058383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.6752	19.5608	0.95371	0.0:0.0:1.0:0.0	.	.	.	.	X	869;869;838;764;746;423	.	ENSP00000287380:E869X	E	+	1	0	WDR67	124222287	1.000000	0.71417	0.094000	0.20943	0.007000	0.05969	4.599000	0.61076	2.721000	0.93114	0.591000	0.81541	GAA	TBC1D31	-	NULL	ENSG00000156787		0.388	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1	-	0	44	0	G	NM_145647		124153106	1	tier1	-	no_errors	ENST00000287380	ensembl	human	known	74_37	nonsense	6.67	70	5	SNP	0.831	T	T	124153106	G	T	124153106	4	4	58	1	0	0	0	0	0	1	0	0	17367	943	33	3	2675	3	WDR67	8	124153106	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2860890	124153106	22210916	1036	15419											
WDR67	93594	genome.wustl.edu	37	chr8	124162324	124162324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaagctgtttgcctagaaCctcacaattaaatgactctt	12	13	5	11	0	3	2	2	1	1	1	3	2	3	2	2	0	3	2	2	0	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:124162324C>G	ENST00000287380.1	+	21	3113	c.3023C>G	c.(3022-3024)aCc>aGc	p.T1008S	TBC1D31_ENST00000518805.1_Missense_Mutation_p.T562S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.T903S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.T912S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.T943S|TBC1D31_ENST00000521676.1_Missense_Mutation_p.T885S|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	1008						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTGCCTAGAACCTCACAATTA	0.358																																																	0													92	85	88					8																	124162324		2203	4300	6503	SO:0001583	missense	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.3023C>G	8.37:g.124162324C>G	ENSP00000287380:p.Thr1008Ser		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.T1008S	ENST00000287380.1	37	c.3023	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	C	5.146	0.212452	0.09757	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	T;T;T;T;T;T	0.75154	-0.18;-0.19;-0.21;-0.64;-0.91;1.03	4.41	4.41	0.53225	.	0.905030	0.09528	N	0.789962	T	0.60051	0.2239	N	0.19112	0.55	0.24662	N	0.99347	B;B;B;B	0.18166	0.003;0.026;0.005;0.009	B;B;B;B	0.13407	0.001;0.009;0.004;0.007	T	0.43523	-0.9386	10	0.26408	T	0.33	0.1082	10.5676	0.45181	0.193:0.807:0.0:0.0	.	912;943;903;1008	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	S	1008;943;912;903;885;562	ENSP00000287380:T1008S;ENSP00000308358:T943S;ENSP00000312701:T912S;ENSP00000429334:T903S;ENSP00000430628:T885S;ENSP00000429494:T562S	ENSP00000287380:T1008S	T	+	2	0	WDR67	124231505	0.085000	0.21516	0.153000	0.22517	0.009000	0.06853	1.314000	0.33597	2.408000	0.81797	0.561000	0.74099	ACC	TBC1D31	-	NULL	ENSG00000156787		0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1		0	34	0	C	NM_145647		124162324	1			no_errors	ENST00000287380	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.113	G	G	124162324	C	G	124162324	3	3	58	1	0	0	0	0	1	0	0	0	17367	507	18	5	3105	5	WDR67	8	124162324	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	9218	124162324	22201698	1037	15420											
KLHL38	340359	genome.wustl.edu	37	chr8	124664405	124664405	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacatctgtctcttggcGgtctccaagatgatctggca	9	11	11	10	1	4	3	0	1	4	2	6	4	4	3	1	3	1	1	1	3	2	1	rs373627238		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:124664405G>T	ENST00000325995.7	-	1	785	c.762C>A	c.(760-762)acC>acA	p.T254T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	254										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTCTCTTGGCGGTCTCCAAGA	0.537																																																	0													65	68	67					8																	124664405		2091	4225	6316	SO:0001819	synonymous_variant	0				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"Kelch-like", "BTB/POZ domain containing"	34435	protein-coding gene	gene with protein product			"kelch-like 38 (Drosophila)"				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.762C>A	8.37:g.124664405G>T			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T254	ENST00000325995.7	37	c.762	CCDS43766.1	8																																																																																			KLHL38	-	pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.537	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1		0	40	0	G			124664405	-1			no_errors	ENST00000325995	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.000	T	T	124664405	G	T	124664405	2	4	58	1	0	0	0	0	0	0	0	1	8417	1103	39	2		2	KLHL38	8	124664405	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	502081	124664405	21699617	1038	15421											
FER1L6	654463	genome.wustl.edu	37	chr8	125131921	125131921	+	Frame_Shift_Del	DEL	A	A	-																															acctcatctggaagaattacAaaaagtacatcatcattgct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:125131921delA	ENST00000522917.1	+	41	5670	c.5464delA	c.(5464-5466)aaafs	p.K1823fs	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.K1823fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1823						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGAATTACAAAAAGTAcat	0.463																																																	0													206	218	214					8																	125131921		2056	4176	6232	SO:0001589	frameshift_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5464delA	8.37:g.125131921delA	ENSP00000428280:p.Lys1823fs			Frame_Shift_Del	DEL	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.K1823fs	ENST00000522917.1	37	c.5464	CCDS43767.1	8																																																																																			FER1L6	-	superfamily_ABC1_TM_dom	ENSG00000214814		0.463	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1		0	71	0	A	NM_001039112		125131921	1	tier1		no_errors	ENST00000399018	ensembl	human	known	74_37	frame_shift_del	18.95	77	18	DEL	1.000	-	-	125131921	A	-	125131921	7	5	58	1	0	1	0	1	0	0	0	0	5837	131	5	0	5622	0	FER1L6	8	125131921	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	467516	125131921	21232101	1039	15422											
MTSS1	9788	genome.wustl.edu	37	chr8	125597329	125597329	+	Splice_Site	DEL	T	T	-																															gcagaattttaggagttaccTttttttgctttcttctgcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:125597329delT	ENST00000518547.1	-	6	932	c.459delA	c.(457-459)aaa>aa	p.K153fs	MTSS1_ENST00000378017.3_Splice_Site_p.K153fs|MTSS1_ENST00000325064.5_Splice_Site_p.K153fs|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	153	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGAGTTACCTTTTTTTGCTT	0.373																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												0													263	239	247					8																	125597329		2203	4300	6503	SO:0001630	splice_region_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.460+1A>-	8.37:g.125597329delT			J3KNK6|Q8TCA2|Q96RX2	Frame_Shift_Del	DEL	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.R155fs	ENST00000518547.1	37	c.459	CCDS6353.1	8																																																																																			MTSS1	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000170873		0.373	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3		0	54	0	T	NM_014751	Frame_Shift_Del	125597329	-1	tier1		no_errors	ENST00000518547	ensembl	human	known	74_37	frame_shift_del	21.43	88	24	DEL	1.000	-	-	125597329	T	-	125597329	8	5	58	1	0	1	0	1	0	0	1	0	10000	1623	56	0	1844	0	MTSS1	8	125597329	Splice_Site	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	465408	125597329	20766693	1040	15423											
ZNF572	137209	genome.wustl.edu	37	chr8	125987893	125987893	+	Frame_Shift_Del	DEL	A	A	-																															gatcattgtgatggagcaagAaaaaaaactgttggtctcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:125987893delA	ENST00000319286.5	+	2	165	c.11delA	c.(10-12)gaafs	p.E4fs		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGGAGCAAGAAAAAAAACTG	0.393										HNSCC(60;0.17)																																							0													114	110	111					8																	125987893		2203	4300	6503	SO:0001589	frameshift_variant	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.11delA	8.37:g.125987893delA	ENSP00000319305:p.Glu4fs		A1L4F1|Q8N1Q0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K6fs	ENST00000319286.5	37	c.11	CCDS6354.1	8																																																																																			ZNF572	-	NULL	ENSG00000180938		0.393	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1		0	80	0	A	NM_152412		125987893	1	tier1		no_errors	ENST00000319286	ensembl	human	known	74_37	frame_shift_del	25.62	90	31	DEL	0.002	-	-	125987893	A	-	125987893	7	5	58	1	0	1	0	1	0	0	0	0	18052	246	9	0	13	0	ZNF572	8	125987893	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	390564	125987893	20376129	1041	15424											
FAM84B	157638	genome.wustl.edu	37	chr8	127568850	127568850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcagcacggccgcgCgcccgatctggtcgttgcgt	3	8	14	16	7	1	0	0	0	1	0	3	1	2	0	3	2	3	4	3	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:127568850C>T	ENST00000304916.3	-	2	1240	c.785G>A	c.(784-786)cGc>cAc	p.R262H	RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA|FAM84B_ENST00000517458.1_5'Flank	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	262						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CACGGCCGCGCGCCCGATCTG	0.706																																																	0													13	14	14					8																	127568850		2182	4248	6430	SO:0001583	missense	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"breast cancer membrane-associated protein 101", "neurological/sensory 2"	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.785G>A	8.37:g.127568850C>T	ENSP00000302578:p.Arg262His			Missense_Mutation	SNP	pfam_LRAT-like_dom	p.R262H	ENST00000304916.3	37	c.785	CCDS6358.1	8	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621330	0.66787	.	.	ENSG00000168672	ENST00000304916	T	0.03441	3.93	4.77	4.77	0.60923	.	0.250921	0.38778	N	0.001569	T	0.09247	0.0228	L	0.53249	1.67	0.36178	D	0.849191	D	0.71674	0.998	P	0.56088	0.791	T	0.02625	-1.1132	10	0.87932	D	0	-22.5672	8.8908	0.35432	0.0:0.8312:0.0:0.1688	.	262	Q96KN1	FA84B_HUMAN	H	262	ENSP00000302578:R262H	ENSP00000302578:R262H	R	-	2	0	FAM84B	127638032	0.942000	0.31987	0.976000	0.42696	0.782000	0.44232	1.307000	0.33516	2.473000	0.83533	0.456000	0.33151	CGC	FAM84B	-	NULL	ENSG00000168672		0.706	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	-	0	93	0	C	NM_174911		127568850	-1	tier1	-	no_errors	ENST00000304916	ensembl	human	known	74_37	missense	20.24	67	17	SNP	0.994	T	T	127568850	C	T	127568850	3	4	58	1	0	0	0	0	1	0	0	0	5664	768	27	1	151	1	FAM84B	8	127568850	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1580957	127568850	18795172	1042	15425											
LRRC6	23639	genome.wustl.edu	37	chr8	133637520	133637521	+	Missense_Mutation	DNP	TA	TA	AG																															taggaaagaatgaaatacctTaatttttcctgtttcttccg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T|A	T|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:133637520_133637521TA>AG	ENST00000519595.1	-	6	931_932	c.833_834TA>CT	c.(832-834)tTA>tCT	p.L278S	LRRC6_ENST00000250173.1_Missense_Mutation_p.L278S|LRRC6_ENST00000518642.1_Missense_Mutation_p.L278S|LRRC6_ENST00000520446.1_5'UTR			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	278					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAAATACCTTAATTTTTCCTG	0.351																																																	0																																										SO:0001583	missense	0			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.833_834delinsAG	8.37:g.133637520_133637521delinsAG	ENSP00000429791:p.Leu278Ser		Q13648|Q4G183	Missense_Mutation	SNP	superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom	p.L278F|p.L278S	ENST00000519595.1	37	c.834|c.833		8																																																																																			LRRC6	-	NULL	ENSG00000129295		0.351	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	LRRC6	HGNC	protein_coding	OTTHUMT00000379578.1	-	0	112	0	T|A	NM_012472		133637520|133637521	-1	tier1	-	no_errors	ENST00000250173	ensembl	human	known	74_37	missense	31.21	97	44	SNP	0.995|0.988	A|G	AG	133637521	TA	AG	133637520	3	1	58	1	0	0	0	0	1	0	0	0	9051	1751	61	5	594	5	LRRC6	8	133637520	Missense_Mutation	DNP	TA	TCGA-L5-A4OI-01A-11D-A27G-09	6068670	133637520	12726502	1043	15426											
TG	7038	genome.wustl.edu	37	chr8	133906103	133906103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttcctccgctcttccCgccccgggaggctttcgcgg	1	9	12	19	6	1	0	0	0	1	0	5	1	4	1	6	4	0	2	6	4	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:133906103C>T	ENST00000220616.4	+	11	2970	c.2930C>T	c.(2929-2931)cCg>cTg	p.P977L	TG_ENST00000377869.1_Missense_Mutation_p.P977L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	977	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCGCTCTTCCCGCCCCGGGAG	0.602																																																	0													82	78	80					8																	133906103		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2930C>T	8.37:g.133906103C>T	ENSP00000220616:p.Pro977Leu		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.P977L	ENST00000220616.4	37	c.2930	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	c	12.11	1.839116	0.32513	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.63913	-0.07;-0.07	4.9	3.08	0.35506	Thyroglobulin type-1 (1);	0.896401	0.09555	N	0.786440	T	0.47451	0.1446	L	0.52573	1.65	0.09310	N	1	P	0.44659	0.84	B	0.31390	0.129	T	0.44544	-0.9321	10	0.56958	D	0.05	.	4.146	0.10215	0.1615:0.576:0.0:0.2625	.	977	P01266	THYG_HUMAN	L	977	ENSP00000367100:P977L;ENSP00000220616:P977L	ENSP00000220616:P977L	P	+	2	0	TG	133975285	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.707000	0.25704	0.491000	0.27793	0.380000	0.24917	CCG	TG	-	superfamily_Thyroglobulin_1,pirsf_Thyroglobulin	ENSG00000042832		0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	86	0	C	NM_003235		133906103	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	34.21	50	26	SNP	0.001	T	T	133906103	C	T	133906103	3	4	58	1	0	0	0	0	1	0	0	0	15860	652	23	1	2972	1	TG	8	133906103	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	268583	133906103	12457919	1044	15427											
ZFAT	57623	genome.wustl.edu	37	chr8	135614876	135614878	+	In_Frame_Del	DEL	CTT	CTT	-																															aggttcttgacgtcagagtaCttcttcttgcagaagcggca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:135614876_135614878delCTT	ENST00000377838.3	-	6	1258_1260	c.1084_1086delAAG	c.(1084-1086)aagdel	p.K362del	ZFAT_ENST00000520727.1_In_Frame_Del_p.K350del|ZFAT_ENST00000520356.1_In_Frame_Del_p.K350del|ZFAT_ENST00000520214.1_In_Frame_Del_p.K350del|ZFAT_ENST00000429442.2_In_Frame_Del_p.K350del|ZFAT_ENST00000523399.1_In_Frame_Del_p.K300del|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	362					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CGTCAGAGTACTTCTTCTTGCAG	0.547																																																	0																																										SO:0001651	inframe_deletion	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1084_1086delAAG	8.37:g.135614882_135614884delCTT	ENSP00000367069:p.Lys362del		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	In_Frame_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K362in_frame_del	ENST00000377838.3	37	c.1086_1084	CCDS47924.1	8																																																																																			ZFAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066827		0.547	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1		0	57	0	CTT	NM_001029939		135614878	-1	tier1		no_errors	ENST00000377838	ensembl	human	known	74_37	in_frame_del	27.50	29	11	DEL	1.000:1.000:1.000	-	-	135614878	CTT	-	135614876	7	5	58	1	0	1	0	1	0	0	0	0	17680	564	20	0	2689	0	ZFAT	8	135614876	In_Frame_Del	DEL	CTT	TCGA-L5-A4OI-01A-11D-A27G-09	1708773	135614876	10749146	1045	15428											
FAM135B	51059	genome.wustl.edu	37	chr8	139144926	139144926	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgagcggctcggccgatCagggtgttggcagtgttggg	5	10	19	7	3	1	1	1	1	0	0	2	2	1	1	1	5	1	4	1	5	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:139144926C>G	ENST00000395297.1	-	20	4301	c.4131G>C	c.(4129-4131)ctG>ctC	p.L1377L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1377								p.L1377L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCGGCCGATCAGGGTGTTGG	0.527										HNSCC(54;0.14)																																							2	Substitution - coding silent(2)	lung(2)											197	209	205					8																	139144926		1965	4156	6121	SO:0001819	synonymous_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4131G>C	8.37:g.139144926C>G			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.L1377	ENST00000395297.1	37	c.4131	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	43	0	C	NM_015912		139144926	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	40.32	37	25	SNP	1.000	G	G	139144926	C	G	139144926	2	3	58	1	0	0	0	0	0	0	0	1	5468	813	29	5		5	FAM135B	8	139144926	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3530050	139144926	7219096	1046	15429											
FAM135B	51059	genome.wustl.edu	37	chr8	139151309	139151309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagctgcagtagagacccgGatttcttcagtttctgcatg	8	13	10	10	1	4	1	2	0	2	1	4	3	4	2	1	1	3	5	1	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:139151309G>T	ENST00000395297.1	-	18	3991	c.3821C>A	c.(3820-3822)tCc>tAc	p.S1274Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1274										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGAGACCCGGATTTCTTCAG	0.398										HNSCC(54;0.14)																																							0													113	107	109					8																	139151309		1852	4103	5955	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3821C>A	8.37:g.139151309G>T	ENSP00000378710:p.Ser1274Tyr		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S1274Y	ENST00000395297.1	37	c.3821	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845842	0.91277	.	.	ENSG00000147724	ENST00000395297	T	0.44482	0.92	5.82	5.82	0.92795	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80162	-0.1497	10	0.87932	D	0	-19.1946	19.0882	0.93215	0.0:0.0:1.0:0.0	.	1274	Q49AJ0	F135B_HUMAN	Y	1274	ENSP00000378710:S1274Y	ENSP00000378710:S1274Y	S	-	2	0	FAM135B	139220491	1.000000	0.71417	0.958000	0.39756	0.960000	0.62799	9.869000	0.99810	2.760000	0.94817	0.655000	0.94253	TCC	FAM135B	-	pfam_DUF676_lipase-like	ENSG00000147724		0.398	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	60	0	G	NM_015912		139151309	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	T	T	139151309	G	T	139151309	3	4	58	1	0	0	0	0	1	0	0	0	5468	1174	41	3	411	3	FAM135B	8	139151309	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6383	139151309	7212713	1047	15430											
FAM135B	51059	genome.wustl.edu	37	chr8	139163952	139163952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcaacctctgagatGccactgttggaaagagcttg	11	9	10	11	0	2	3	1	1	1	3	2	5	2	4	3	1	3	2	3	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:139163952G>T	ENST00000395297.1	-	13	2936	c.2766C>A	c.(2764-2766)ggC>ggA	p.G922G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	922										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTCTGAGATGCCACTGTTGG	0.507										HNSCC(54;0.14)																																							0													135	128	130					8																	139163952		2203	4300	6503	SO:0001819	synonymous_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2766C>A	8.37:g.139163952G>T			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.G922	ENST00000395297.1	37	c.2766	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3		0	35	0	G	NM_015912		139163952	-1			no_errors	ENST00000395297	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.000	T	T	139163952	G	T	139163952	2	4	58	1	0	0	0	0	0	0	0	1	5468	1306	46	3		3	FAM135B	8	139163952	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	12643	139163952	7200070	1048	15431											
TRAPPC9	83696	genome.wustl.edu	37	chr8	141231604	141231604	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctctcgggtgggttcAcaggtttgccctccactcgg	3	13	13	12	2	2	0	1	0	1	0	5	0	3	0	2	4	2	4	2	4	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:141231604A>G	ENST00000438773.2	-	17	2643	c.2510T>C	c.(2509-2511)gTg>gCg	p.V837A	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.V935A|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V828A	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	837					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGGTGGGTTCACAGGTTTGCC	0.547																																																	0													139	111	121					8																	141231604		2203	4300	6503	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2510T>C	8.37:g.141231604A>G	ENSP00000405060:p.Val837Ala		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.V935A	ENST00000438773.2	37	c.2804	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	A	7.702	0.693391	0.15039	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.5	-1.2	0.09554	.	1.436900	0.03829	N	0.268775	T	0.26159	0.0638	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.18461	-1.0336	9	0.02654	T	1	.	6.5936	0.22659	0.3302:0.1139:0.5559:0.0	.	935;837;828;935	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	A	935;828;837	.	ENSP00000373978:V828A	V	-	2	0	TRAPPC9	141300786	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	0.343000	0.19944	-0.471000	0.06891	0.533000	0.62120	GTG	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.547	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0	82	0	A	NM_031466		141231604	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	missense	30.60	91	41	SNP	0.000	G	G	141231604	A	G	141231604	3	3	58	1	0	0	0	0	1	0	0	0	16513	159	6	4	964	4	TRAPPC9	8	141231604	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2067652	141231604	5132418	1049	15432											
TRAPPC9	83696	genome.wustl.edu	37	chr8	141468445	141468445	+	5'Flank	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggtggaggccccgcGgaagcccactgtggatccct	6	6	15	14	2	1	0	1	0	0	0	2	3	2	3	4	6	1	0	4	6	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:141468445G>T	ENST00000438773.2	-	0	0				TRAPPC9_ENST00000389328.4_Silent_p.S73S|TRAPPC9_ENST00000389327.3_5'Flank	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAGGCCCCGCGGAAGCCCACT	0.677																																																	0													22	20	21					8																	141468445		2199	4289	6488	SO:0001631	upstream_gene_variant	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187		8.37:g.141468445G>T	Exception_encountered		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	pfam_TRAPP_II_complex_Trs120	p.S73	ENST00000438773.2	37	c.219	CCDS55278.1	8																																																																																			TRAPPC9	-	NULL	ENSG00000167632		0.677	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0	88	0	G	NM_031466		141468445	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	silent	22.22	91	26	SNP	0.000	T	T	141468445	G	T	141468445	1	4	58	0	1	0	0	0	0	0	0	0	16513	1103	39	2		2	TRAPPC9	8	141468445	5'Flank	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	236841	141468445	4895577	1050	15433											
SLC45A4	57210	genome.wustl.edu	37	chr8	142221559	142221559	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcactgtcttctgcccagGccccccggaccagcctcctc	6	8	7	20	1	3	0	1	0	2	0	5	1	4	1	7	2	2	0	7	2	1	1	rs371876151		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142221559G>C	ENST00000024061.3	-	8	2686	c.2379C>G	c.(2377-2379)ggC>ggG	p.G793G	SLC45A4_ENST00000517878.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR|SLC45A4_ENST00000519067.1_3'UTR	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTGCCCAGGCCCCCCGGAC	0.652																																																	0													45	51	49					8																	142221559		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2379C>G	8.37:g.142221559G>C			Q6ZRI2|Q9ULU3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G793	ENST00000024061.3	37	c.2379	CCDS34948.1	8																																																																																			SLC45A4	-	NULL	ENSG00000022567		0.652	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3		0	25	0	G	XM_050325		142221559	-1			no_errors	ENST00000024061	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.000	C	C	142221559	G	C	142221559	2	2	58	1	0	0	0	0	0	0	0	1	14688	1190	42	5		5	SLC45A4	8	142221559	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	753114	142221559	4142463	1051	15434											
SLC45A4	57210	genome.wustl.edu	37	chr8	142222358	142222358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgagcttcagcacggtggGcttttcgctgttcccaccgg	4	11	13	13	4	1	1	1	1	0	0	3	1	2	1	2	3	2	5	2	3	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142222358G>A	ENST00000024061.3	-	7	2393	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S	SLC45A4_ENST00000517878.1_Missense_Mutation_p.P747S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.P689S|SLC45A4_ENST00000519067.1_Missense_Mutation_p.P696S	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGCACGGTGGGCTTTTCGCTG	0.632																																																	0													36	32	33					8																	142222358		2202	4300	6502	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2086C>T	8.37:g.142222358G>A	ENSP00000024061:p.Pro696Ser		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.P747S	ENST00000024061.3	37	c.2239	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295412	0.60086	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.33654	1.6;1.47;1.53;1.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.57536	1.79	0.46499	D	0.999076	D;D;D	0.67145	0.958;0.996;0.996	B;D;D	0.64237	0.386;0.923;0.923	T	0.59700	-0.7405	10	0.87932	D	0	-35.3184	18.9005	0.92440	0.0:0.0:1.0:0.0	.	747;696;696	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	S	696;747;689;696	ENSP00000429059:P696S;ENSP00000428137:P747S;ENSP00000400799:P689S;ENSP00000024061:P696S	ENSP00000024061:P696S	P	-	1	0	SLC45A4	142291540	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	4.380000	0.59581	2.453000	0.82957	0.655000	0.94253	CCC	SLC45A4	-	NULL	ENSG00000022567		0.632	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0	36	0	G	XM_050325		142222358	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	A	A	142222358	G	A	142222358	3	1	58	1	0	0	0	0	1	0	0	0	14688	1203	42	3	318	3	SLC45A4	8	142222358	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	799	142222358	4141664	1052	15435											
GPR20	2843	genome.wustl.edu	37	chr8	142367058	142367058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgctgaccacgtcaccGctgctgggctcacgctctcc	5	9	10	17	3	3	1	2	1	1	0	4	1	3	1	3	1	3	6	3	1	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142367058G>A	ENST00000377741.3	-	2	1056	c.966C>T	c.(964-966)agC>agT	p.S322S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	322					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACGTCACCGCTGCTGGGCT	0.657																																																	0													75	64	68					8																	142367058		2203	4300	6503	SO:0001819	synonymous_variant	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.966C>T	8.37:g.142367058G>A			Q17R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S322	ENST00000377741.3	37	c.966	CCDS34949.1	8																																																																																			GPR20	-	NULL	ENSG00000204882		0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0	89	0	G	NM_005293		142367058	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	silent	27.52	79	30	SNP	0.000	A	A	142367058	G	A	142367058	2	1	58	1	0	0	0	0	0	0	0	1	6706	1078	38	1		1	GPR20	8	142367058	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	144700	142367058	3996964	1053	15436											
GPR20	2843	genome.wustl.edu	37	chr8	142367352	142367352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagcagacccggccgCgacagtgcacacatgatgcg	9	5	15	12	4	0	2	0	1	0	1	0	4	0	3	2	3	3	2	2	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142367352C>T	ENST00000377741.3	-	2	762	c.672G>A	c.(670-672)tcG>tcA	p.S224S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	224					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GACCCGGCCGCGACAGTGCAC	0.657																																																	0													9	9	9					8																	142367352		2075	4094	6169	SO:0001819	synonymous_variant	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.672G>A	8.37:g.142367352C>T			Q17R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S224	ENST00000377741.3	37	c.672	CCDS34949.1	8																																																																																			GPR20	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204882		0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0	47	0	C	NM_005293		142367352	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.005	T	T	142367352	C	T	142367352	2	4	58	1	0	0	0	0	0	0	0	1	6706	755	27	1		1	GPR20	8	142367352	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	294	142367352	3996670	1054	15437											
GPR20	2843	genome.wustl.edu	37	chr8	142367375	142367375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcacacatgatgcggcCggtaaacacgctgatgacca	12	6	11	12	3	0	3	0	3	0	0	0	3	0	3	2	2	3	3	2	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142367375C>T	ENST00000377741.3	-	2	739	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	217					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ATGATGCGGCCGGTAAACACG	0.667																																																	0													9	10	10					8																	142367375		2073	4107	6180	SO:0001583	missense	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.649G>A	8.37:g.142367375C>T	ENSP00000366970:p.Gly217Ser		Q17R96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G217S	ENST00000377741.3	37	c.649	CCDS34949.1	8	.	.	.	.	.	.	.	.	.	.	C	6.080	0.383070	0.11524	.	.	ENSG00000204882	ENST00000377741	T	0.71817	-0.6	4.77	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.798454	0.10891	U	0.622648	T	0.45935	0.1367	N	0.17564	0.495	0.09310	N	1	P	0.46784	0.884	B	0.36092	0.217	T	0.18808	-1.0325	10	0.13470	T	0.59	-30.3208	6.1013	0.20049	0.0:0.5357:0.3585:0.1057	.	217	Q99678	GPR20_HUMAN	S	217	ENSP00000366970:G217S	ENSP00000366970:G217S	G	-	1	0	GPR20	142436557	0.000000	0.05858	0.973000	0.42090	0.183000	0.23260	-0.309000	0.08145	2.197000	0.70478	0.462000	0.41574	GGC	GPR20	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204882		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0	44	0	C	NM_005293		142367375	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.001	T	T	142367375	C	T	142367375	3	4	58	1	0	0	0	0	1	0	0	0	6706	652	23	1	431	1	GPR20	8	142367375	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	23	142367375	3996647	1055	15438											
BAI1	575	genome.wustl.edu	37	chr8	143603442	143603442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgggccacctccggaaccgCctcatccgcaagcgcttcct	7	6	9	19	5	1	0	1	0	0	0	4	1	4	1	7	2	2	2	7	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:143603442C>T	ENST00000517894.1	+	21	4035	c.3141C>T	c.(3139-3141)cgC>cgT	p.R1047R	BAI1_ENST00000323289.5_Silent_p.R1047R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCGGAACCGCCTCATCCGCA	0.652																																																	0													31	40	37					8																	143603442		2200	4299	6499	SO:0001819	synonymous_variant	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3141C>T	8.37:g.143603442C>T				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R1047	ENST00000517894.1	37	c.3141		8																																																																																			BAI1	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2-like	ENSG00000181790		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0	59	0	C	NM_001702		143603442	1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	silent	28.57	40	16	SNP	1.000	T	T	143603442	C	T	143603442	2	4	58	1	0	0	0	0	0	0	0	1	1299	726	26	3		3	BAI1	8	143603442	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1236067	143603442	2760580	1056	15439											
CYP11B2	1585	genome.wustl.edu	37	chr8	143994741	143994741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcccgcagcaagggcagctCggtggttgccttctggggat	5	8	16	12	3	1	0	0	0	1	0	2	1	1	1	2	5	3	5	2	5	1	2	rs202173105		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:143994741C>T	ENST00000323110.2	-	6	1083	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	361					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AAGGGCAGCTCGGTGGTTGCC	0.687									Familial Hyperaldosteronism type I																																								0													49	53	52					8																	143994741		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1081G>A	8.37:g.143994741C>T	ENSP00000325822:p.Glu361Lys		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E361K	ENST00000323110.2	37	c.1081	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	13.95	2.389734	0.42410	.	.	ENSG00000179142	ENST00000323110	T	0.66460	-0.21	3.88	3.88	0.44766	.	0.456851	0.18587	N	0.136855	T	0.52108	0.1714	L	0.42487	1.325	0.27062	N	0.963535	P	0.47106	0.89	B	0.40199	0.322	T	0.42899	-0.9424	10	0.13108	T	0.6	.	8.8035	0.34923	0.2246:0.7754:0.0:0.0	.	361	P19099	C11B2_HUMAN	K	361	ENSP00000325822:E361K	ENSP00000325822:E361K	E	-	1	0	CYP11B2	143991743	0.000000	0.05858	0.871000	0.34182	0.076000	0.17211	-0.119000	0.10676	1.991000	0.58162	0.558000	0.71614	GAG	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000179142		0.687	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	-	0	79	0	C			143994741	-1	tier1	rs202173105	no_errors	ENST00000323110	ensembl	human	known	74_37	missense	29.73	52	22	SNP	0.961	T	T	143994741	C	T	143994741	3	4	58	1	0	0	0	0	1	0	0	0	4155	893	31	1	446	1	CYP11B2	8	143994741	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	391299	143994741	2369281	1057	15440											
CYP11B2	1585	genome.wustl.edu	37	chr8	143995767	143995767	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaacaggagctccgccacGatgcctgtgtagtgttgagg	8	10	13	10	2	1	1	1	1	0	0	2	3	2	2	3	2	3	3	3	2	2	3	rs547347545	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:143995767G>A	ENST00000323110.2	-	5	869	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	289					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTCCGCCACGATGCCTGTGT	0.562									Familial Hyperaldosteronism type I				.|||	8	0.00159744	0	0	5008	,	,		19314	0		0	False		,,,				2504	0.0082																0													150	124	133					8																	143995767		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.867C>T	8.37:g.143995767G>A			B0ZBE4|Q16726	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.I289	ENST00000323110.2	37	c.867	CCDS6393.1	8																																																																																			CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000179142		0.562	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	-	0	76	0	G			143995767	-1	tier1	-	no_errors	ENST00000323110	ensembl	human	known	74_37	silent	26.88	68	25	SNP	0.972	A	A	143995767	G	A	143995767	2	1	58	1	0	0	0	0	0	0	0	1	4155	1048	37	1		1	CYP11B2	8	143995767	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1026	143995767	2368255	1058	15441											
C8orf31	286122	genome.wustl.edu	37	chr8	144126186	144126186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggccccttccaagacCgccaagcatctgtagcagcg	10	5	11	15	2	1	1	0	0	1	1	2	2	2	2	5	2	3	3	5	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144126186C>T	ENST00000395172.1	+	4	659	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	103										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTTCCAAGACCGCCAAGCATC	0.612																																																	0													69	61	63					8																	144126186		2203	4300	6503	SO:0001583	missense	0				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.307C>T	8.37:g.144126186C>T	ENSP00000378601:p.Arg103Cys		Q6GMU7	Missense_Mutation	SNP	NULL	p.R103C	ENST00000395172.1	37	c.307	CCDS6395.1	8	.	.	.	.	.	.	.	.	.	.	c	3.024	-0.201064	0.06219	.	.	ENSG00000177335	ENST00000395172	T	0.56941	0.43	1.79	-1.24	0.09435	.	.	.	.	.	T	0.26376	0.0644	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	B	0.40329	0.326	T	0.20140	-1.0284	9	0.87932	D	0	.	5.0238	0.14374	0.0:0.4632:0.0:0.5368	.	103	Q8N9H6	CH031_HUMAN	C	103	ENSP00000378601:R103C	ENSP00000378601:R103C	R	+	1	0	C8orf31	144197561	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.306000	0.08178	-0.378000	0.07918	-0.281000	0.10026	CGC	C8orf31	-	NULL	ENSG00000177335		0.612	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf31	HGNC	protein_coding	OTTHUMT00000380167.1	-	0	37	0	C	NM_173687		144126186	1	tier1	-	no_errors	ENST00000395172	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.000	T	T	144126186	C	T	144126186	3	4	58	1	0	0	0	0	1	0	0	0	2427	652	23	1	317	1	C8orf31	8	144126186	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	130419	144126186	2237836	1059	15442											
GPIHBP1	338328	genome.wustl.edu	37	chr8	144297286	144297286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcccgagtccaggacccaAcaggcaagggggcaggcggc	9	2	16	14	2	0	0	0	0	0	0	2	2	2	1	3	6	1	3	3	6	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144297286A>G	ENST00000330824.2	+	4	523	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	150					cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCAGGACCCAACAGGCAAGGG	0.672																																																	0													49	52	51					8																	144297286		2203	4298	6501	SO:0001583	missense	0			AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"endothelial cell LPL transporter"	612757	"GPI anchored high density lipoprotein binding protein 1"			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.448A>G	8.37:g.144297286A>G	ENSP00000329266:p.Thr150Ala		Q6P3T2|Q86W15	Missense_Mutation	SNP	pfam_LY6_UPAR	p.T150A	ENST00000330824.2	37	c.448	CCDS34954.1	8	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.203868	0.01581	.	.	ENSG00000182851	ENST00000330824	D	0.82167	-1.58	4.28	2.3	0.28687	.	1.306310	0.05719	N	0.597280	T	0.64472	0.2601	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51309	-0.8722	10	0.02654	T	1	-6.5219	8.8687	0.35303	0.4106:0.5893:0.0:0.0	.	150	Q8IV16	HDBP1_HUMAN	A	150	ENSP00000329266:T150A	ENSP00000329266:T150A	T	+	1	0	GPIHBP1	144368661	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.061000	0.11693	0.924000	0.37069	-0.419000	0.06015	ACA	GPIHBP1	-	NULL	ENSG00000182851		0.672	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPIHBP1	HGNC	protein_coding	OTTHUMT00000381113.1	-	0	32	0	A	NM_178172		144297286	1	tier1	-	no_errors	ENST00000330824	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	G	G	144297286	A	G	144297286	3	3	58	1	0	0	0	0	1	0	0	0	6638	43	2	4	462	4	GPIHBP1	8	144297286	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	171100	144297286	2066736	1060	15443											
GLI4	2738	genome.wustl.edu	37	chr8	144358905	144358905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcccttcgcgtgtggCgcctgcggcaaggccttcgg	5	7	16	13	5	0	1	0	0	0	1	2	2	0	1	3	4	2	1	3	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144358905C>T	ENST00000523522.1	+	3	1101	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Silent_p.G354G			P10075	GLI4_HUMAN	GLI family zinc finger 4	354					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TCGCGTGTGGCGCCTGCGGCA	0.711																																																	0													10	11	11					8																	144358905		2192	4279	6471	SO:0001819	synonymous_variant	0				CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"Zinc fingers, C2H2-type"	4320	protein-coding gene	gene with protein product		165280	"GLI-Kruppel family member GLI4", "glioma-associated oncogene family zinc finger 4"			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.1062C>T	8.37:g.144358905C>T			Q96CK9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G354	ENST00000523522.1	37	c.1062	CCDS6398.1	8																																																																																			GLI4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000250571		0.711	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI4	HGNC	protein_coding	OTTHUMT00000381128.2	-	0	33	0	C			144358905	1	tier1	-	no_errors	ENST00000340042	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.000	T	T	144358905	C	T	144358905	2	4	58	1	0	0	0	0	0	0	0	1	6466	755	27	1		1	GLI4	8	144358905	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	61619	144358905	2005117	1061	15444											
PUF60	22827	genome.wustl.edu	37	chr8	144904053	144904053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttggcggctgtgctctGcccgttctccatcttgatgg	3	13	12	13	2	3	1	0	1	3	0	4	1	3	1	2	3	3	4	2	3	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144904053G>T	ENST00000526683.1	-	3	697	c.142C>A	c.(142-144)Cag>Aag	p.Q48K	PUF60_ENST00000527197.1_Missense_Mutation_p.Q19K|PUF60_ENST00000349157.6_Missense_Mutation_p.Q48K|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Missense_Mutation_p.Q5K|PUF60_ENST00000456095.2_Missense_Mutation_p.Q19K|PUF60_ENST00000453551.2_Missense_Mutation_p.Q5K	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	48	Inhibits homodimerization.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGTGCTCTGCCCGTTCTCC	0.637																																																	0													30	35	33					8																	144904053		2067	4189	6256	SO:0001583	missense	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.142C>A	8.37:g.144904053G>T	ENSP00000434359:p.Gln48Lys		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.Q48K	ENST00000526683.1	37	c.142	CCDS47934.1	8	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041798	0.55003	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162	T;T;T;T;T;T;T;T;T;T	0.18810	2.62;2.57;2.61;2.64;2.34;2.57;2.52;3.32;3.22;2.19	5.13	5.13	0.70059	.	0.059933	0.64402	D	0.000002	T	0.28267	0.0698	N	0.25647	0.755	0.80722	D	1	P;P;B	0.43578	0.774;0.811;0.073	B;P;B	0.57846	0.137;0.828;0.009	T	0.01626	-1.1309	10	0.08179	T	0.78	.	17.5537	0.87884	0.0:0.0:1.0:0.0	.	19;48;48	Q9UHX1-5;Q9UHX1-2;Q9UHX1	.;.;PUF60_HUMAN	K	48;5;5;19;48;19;47;85;85;85	ENSP00000434359:Q48K;ENSP00000402953:Q5K;ENSP00000322016:Q5K;ENSP00000395417:Q19K;ENSP00000322036:Q48K;ENSP00000431960:Q19K;ENSP00000432610:Q47K;ENSP00000434863:Q85K;ENSP00000437309:Q85K;ENSP00000433403:Q85K	ENSP00000322016:Q5K	Q	-	1	0	PUF60	144976041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.764000	0.74960	2.381000	0.81170	0.563000	0.77884	CAG	PUF60	-	tigrfam_PolyU-bd	ENSG00000179950		0.637	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	-	0	40	0	G	NM_014281		144904053	-1	tier1	-	no_errors	ENST00000526683	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	144904053	G	T	144904053	3	4	58	1	0	0	0	0	1	0	0	0	12869	1328	46	3	1577	3	PUF60	8	144904053	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	545148	144904053	1459969	1062	15445											
PLEC	5339	genome.wustl.edu	37	chr8	144994400	144994400	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcgggccggcaccgctGctggagctcgccgtaggtgg	3	7	18	13	5	0	0	0	0	0	0	2	1	0	1	3	6	2	5	3	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144994400G>A	ENST00000322810.4	-	32	10169	c.10000C>T	c.(10000-10002)Cag>Tag	p.Q3334*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q3175*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q3224*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q3197*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q3201*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q3183*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q3220*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q3165*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q3197*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3334	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCACCGCTGCTGGAGCTCG	0.701																																																	0													7	9	8					8																	144994400		1911	4043	5954	SO:0001587	stop_gained	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10000C>T	8.37:g.144994400G>A	ENSP00000323856:p.Gln3334*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q3334*	ENST00000322810.4	37	c.10000	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	50	16.417439	0.99863	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	3.8	1.71	0.24356	.	0.189853	0.32473	U	0.006060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	9.9573	0.41675	0.0:0.0:0.385:0.615	.	.	.	.	X	3197;3201;3197;3165;3334;3175;3183;3224;3220	.	ENSP00000323856:Q3334X	Q	-	1	0	PLEC	145066388	1.000000	0.71417	0.301000	0.25044	0.461000	0.32589	3.054000	0.49908	0.881000	0.35993	0.393000	0.25936	CAG	PLEC	-	NULL	ENSG00000178209		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0	14	0	G	NM_000445		144994400	-1			no_errors	ENST00000322810	ensembl	human	known	74_37	nonsense	23.08	10	3	SNP	0.798	A	A	144994400	G	A	144994400	4	1	58	1	0	0	0	0	0	1	0	0	12091	1328	46	3	4058	3	PLEC	8	144994400	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	90347	144994400	1369622	1063	15446											
OPLAH	26873	genome.wustl.edu	37	chr8	145109541	145109542	+	Frame_Shift_Ins	INS	-	-	G																															ctgttgcagcatggtggagtINSgggggggcatggagcctggt																								rs539582965	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145109541_145109542insG	ENST00000426825.1	-	19	2689_2690	c.2608_2609insC	c.(2608-2610)cacfs	p.H870fs	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	870					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTGGAGTGGGGGGGCATG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2609dupC	8.37:g.145109548_145109548dupG	ENSP00000475943:p.His870fs		A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Ins	INS	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.H870fs	ENST00000426825.1	37	c.2609_2608		8																																																																																			OPLAH	-	pfam_Hydantoinase_B	ENSG00000178814		0.639	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding			0	56	0	-	NM_017570		145109542	-1	tier1		no_errors	ENST00000426825	ensembl	human	known	74_37	frame_shift_ins	12.50	49	7	INS	1.000:1.000	G	G	145109542	-	G	145109541	7	5	58	1	0	1	1	0	0	0	0	0	10915	1696	59	0	1295	0	OPLAH	8	145109541	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	115141	145109541	1254481	1064	15447											
CPSF1	29894	genome.wustl.edu	37	chr8	145621896	145621898	+	In_Frame_Del	DEL	CTT	CTT	-																															cccctcctctgcgccgccacCttctgctttcttcttggatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145621896_145621898delCTT	ENST00000349769.3	-	25	2835_2837	c.2741_2743delAAG	c.(2740-2745)gaaggt>ggt	p.E914del	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	914					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCGCCGCCACCTTCTGCTTTCTT	0.626																																					NSCLC(133;1088 1848 27708 34777 35269)												0																																										SO:0001651	inframe_deletion	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2741_2743delAAG	8.37:g.145621896_145621898delCTT	ENSP00000339353:p.Glu914del		Q96AF0	In_Frame_Del	DEL	pfam_Cleavage/polyA-sp_fac_asu_C	p.E914in_frame_del	ENST00000349769.3	37	c.2743_2741	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.626	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2		0	39	0	CTT	NM_013291		145621898	-1	tier1		no_errors	ENST00000349769	ensembl	human	known	74_37	in_frame_del	26.09	34	12	DEL	1.000:0.999:1.000	-	-	145621898	CTT	-	145621896	7	5	58	1	0	1	0	1	0	0	0	0	3831	681	24	0	1644	0	CPSF1	8	145621896	In_Frame_Del	DEL	CTT	TCGA-L5-A4OI-01A-11D-A27G-09	512355	145621896	742126	1065	15448											
SLC39A4	55630	genome.wustl.edu	37	chr8	145639157	145639157	+	Frame_Shift_Del	DEL	G	G	-																															gtctgcgcgggagccctcgtGggggggcttgggctgccgga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145639157delG	ENST00000301305.3	-	8	1501	c.1396delC	c.(1396-1398)cacfs	p.H466fs	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Frame_Shift_Del_p.H441fs	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	466					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAGCCCTCGTGGGGGGGCTTG	0.751																																																	0									,	4,4042		0,4,2019					,	0.5	0			7	24,7896		1,22,3937	no	frameshift,frameshift	SLC39A4	NM_130849.2,NM_017767.2	,	1,26,5956	A1A1,A1R,RR		0.303,0.0989,0.234	,	,		28,11938				SO:0001589	frameshift_variant	0			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1396delC	8.37:g.145639157delG	ENSP00000301305:p.His466fs		Q7L5S5|Q9H6T8|Q9NXC4	Frame_Shift_Del	DEL	pfam_ZIP	p.H466fs	ENST00000301305.3	37	c.1396	CCDS6424.1	8																																																																																			SLC39A4	-	pfam_ZIP	ENSG00000147804		0.751	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A4	HGNC	protein_coding	OTTHUMT00000382688.1		0	16	0	G			145639157	-1	tier1		no_errors	ENST00000301305	ensembl	human	known	74_37	frame_shift_del	39.29	17	11	DEL	0.122	-	-	145639157	G	-	145639157	7	5	58	1	0	1	0	1	0	0	0	0	14665	1348	47	0	567	0	SLC39A4	8	145639157	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	17261	145639157	724865	1066	15449											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145668620	145668620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcatagatgtccaggtGggtgcggccgatggtggccc	5	9	18	9	2	1	1	1	0	0	1	2	2	2	1	3	6	1	0	3	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145668620G>T	ENST00000409379.3	-	4	378	c.349C>A	c.(349-351)Cac>Aac	p.H117N		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	117					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ATGTCCAGGTGGGTGCGGCCG	0.607																																																	0													91	96	94					8																	145668620		692	1591	2283	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.349C>A	8.37:g.145668620G>T	ENSP00000386239:p.His117Asn		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.H117N	ENST00000409379.3	37	c.349	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986503	0.53934	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.76186	-1.0	4.66	2.34	0.29019	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.66809	0.2827	M	0.66939	2.045	0.35202	D	0.774329	P	0.42827	0.791	B	0.37650	0.255	T	0.69363	-0.5165	9	0.56958	D	0.05	.	5.4955	0.16799	0.6472:0.0:0.3528:0.0	.	117	Q96HA7	TONSL_HUMAN	N	117	ENSP00000386239:H117N	ENSP00000386239:H117N	H	-	1	0	TONSL	145639428	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	2.839000	0.48207	0.282000	0.22254	0.462000	0.41574	CAC	TONSL	-	NULL	ENSG00000160949		0.607	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	-	0	92	0	G	NM_013432		145668620	-1	tier1	-	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T	T	145668620	G	T	145668620	3	4	58	1	0	0	0	0	1	0	0	0	10421	1348	47	3	3879	3	NFKBIL2	8	145668620	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	29463	145668620	695402	1067	15450											
LRRC24	441381	genome.wustl.edu	37	chr8	145748682	145748682	+	Frame_Shift_Del	DEL	G	G	-																															gactctggagcgccaggcgcGggggctctgcacacatgatc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145748682delG	ENST00000529415.2	-	5	836	c.719delC	c.(718-720)ccgfs	p.P240fs	LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Frame_Shift_Del_p.P237fs|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	240	LRRCT.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCCAGGCGCGGGGGCTCTGC	0.662																																																	0													22	21	21					8																	145748682		2192	4295	6487	SO:0001589	frameshift_variant	0			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.719delC	8.37:g.145748682delG	ENSP00000434849:p.Pro240fs			Frame_Shift_Del	DEL	pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P240fs	ENST00000529415.2	37	c.719	CCDS34969.1	8																																																																																			LRRC24	-	smart_Cys-rich_flank_reg_C	ENSG00000254402		0.662	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2		0	56	0	G	NM_001024678		145748682	-1	tier1		no_errors	ENST00000529415	ensembl	human	known	74_37	frame_shift_del	26.88	68	25	DEL	0.998	-	-	145748682	G	-	145748682	7	5	58	1	0	1	0	1	0	0	0	0	9014	1116	39	0	826	0	LRRC24	8	145748682	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	80062	145748682	615340	1068	15451											
ZNF517	340385	genome.wustl.edu	37	chr8	146033029	146033029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgcgggaaggccttccGgcagagcacgcagctggctg	7	5	17	12	4	0	1	0	0	0	1	1	3	1	2	2	4	3	5	2	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:146033029G>A	ENST00000531720.1	+	4	773	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.R243Q			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AAGGCCTTCCGGCAGAGCACG	0.687																																																	0													30	28	29					8																	146033029		2202	4300	6502	SO:0001583	missense	0			AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.728G>A	8.37:g.146033029G>A	ENSP00000436103:p.Arg243Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R243Q	ENST00000531720.1	37	c.728	CCDS6434.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.353773|2.353773	0.41700|0.41700	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000529429|ENST00000359971;ENST00000531720	.|T;T	.|0.04275	.|3.66;3.66	2.7|2.7	1.65|1.65	0.23941|0.23941	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.11110|0.11110	0.0271|0.0271	M|M	0.66939|0.66939	2.045|2.045	0.19575|0.19575	N|N	0.999964|0.999964	.|D	.|0.69078	.|0.997	.|P	.|0.54629	.|0.757	T|T	0.15954|0.15954	-1.0419|-1.0419	5|9	.|0.62326	.|D	.|0.03	.|.	5.2756|5.2756	0.15647|0.15647	0.0:0.1813:0.3361:0.4826|0.0:0.1813:0.3361:0.4826	.|.	.|243	.|Q6ZMY9	.|ZN517_HUMAN	S|Q	210|243	.|ENSP00000353058:R243Q;ENSP00000436103:R243Q	.|ENSP00000353058:R243Q	G|R	+|+	1|2	0|0	ZNF517|ZNF517	146003833|146003833	0.000000|0.000000	0.05858|0.05858	0.989000|0.989000	0.46669|0.46669	0.980000|0.980000	0.70556|0.70556	-0.955000|-0.955000	0.03869|0.03869	0.284000|0.284000	0.22305|0.22305	0.462000|0.462000	0.41574|0.41574	GGC|CGG	ZNF517	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197363		0.687	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF517	HGNC	protein_coding	OTTHUMT00000382642.1	-	0	36	0	G	XM_291261		146033029	1	tier1	-	no_errors	ENST00000359971	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.926	A	A	146033029	G	A	146033029	3	1	58	1	0	0	0	0	1	0	0	0	18009	1116	39	1	742	1	ZNF517	8	146033029	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	284347	146033029	330993	1069	15452											
KANK1	23189	genome.wustl.edu	37	chr9	742405	742405	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacggtcacctagaggacaaCgtaagctgtctccattgggc	11	8	11	11	2	2	1	1	0	1	1	3	2	2	2	2	3	3	2	2	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:742405C>T	ENST00000382303.1	+	14	4549	c.3897C>T	c.(3895-3897)aaC>aaT	p.N1299N	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Splice_Site_p.N1141N|KANK1_ENST00000382297.2_Splice_Site_p.N1299N	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1299	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TAGAGGACAACGTAAGCTGTC	0.632																																																	0													42	43	43					9																	742405		2203	4300	6503	SO:0001630	splice_region_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3897+1C>T	9.37:g.742405C>T			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N1299	ENST00000382303.1	37	c.3897	CCDS34976.1	9																																																																																			KANK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107104		0.632	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0	29	0	C	NM_015158	Silent	742405	1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.911	T	T	742405	C	T	742405	5	4	58	1	0	0	0	0	0	0	1	0	8003	550	19	1	3931	1	KANK1	9	742405	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09		742405	140471026	1070	15453											
PDCD1LG2	80380	genome.wustl.edu	37	chr9	5557753	5557756	+	Splice_Site	DEL	GTAA	GTAA	-																															aaagctgtattcttcaaaagGtaagtgagttttattcatgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:5557753_5557756delGTAA	ENST00000397747.3	+	5	1014		c.e5+1		PDCD1LG2_ENST00000397745.2_Splice_Site	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2						immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TCTTCAAAAGGTAAGTGAGTTTTA	0.436																																																	0																																										SO:0001630	splice_region_variant	0			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	18731	protein-coding gene	gene with protein product	"B7 dendritic cell molecule"	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.766+1GTAA>-	9.37:g.5557753_5557756delGTAA			Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Splice_Site	DEL	-	e4+1	ENST00000397747.3	37	c.766+1_766+1	CCDS6465.1	9																																																																																			PDCD1LG2	-	-	ENSG00000197646		0.436	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1LG2	HGNC	protein_coding	OTTHUMT00000051634.1		0	66	0	GTAA	NM_025239	Intron	5557756	1	tier1		no_errors	ENST00000397747	ensembl	human	known	74_37	splice_site_del	30.56	25	11	DEL	1.000:1.000:0.997:0.998	-	-	5557756	GTAA	-	5557753	8	5	58	1	0	1	0	1	0	0	1	0	11657	1275	44	0	781	0	PDCD1LG2	9	5557753	Splice_Site	DEL	GTAA	TCGA-L5-A4OI-01A-11D-A27G-09	4815348	5557753	135655678	1071	15454											
KIAA2026	158358	genome.wustl.edu	37	chr9	5920370	5920370	+	Frame_Shift_Del	DEL	T	T	-																															tgtactggtattgatgactaTtttttgctgaatacaaggtt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:5920370delT	ENST00000399933.3	-	8	5625	c.5626delA	c.(5626-5628)atafs	p.I1876fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.I1846fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1876										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGATGACTATTTTTTGCTGA	0.473																																																	0													179	180	180					9																	5920370		1978	4169	6147	SO:0001589	frameshift_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5626delA	9.37:g.5920370delT	ENSP00000382815:p.Ile1876fs		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Del	DEL	superfamily_Bromodomain	p.I1876fs	ENST00000399933.3	37	c.5626		9																																																																																			KIAA2026	-	NULL	ENSG00000183354		0.473	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2		0	78	0	T	NM_001017969		5920370	-1	tier1		no_errors	ENST00000399933	ensembl	human	novel	74_37	frame_shift_del	37.18	49	29	DEL	1.000	-	-	5920370	T	-	5920370	7	5	58	1	0	1	0	1	0	0	0	0	8297	1493	52	0	689	0	KIAA2026	9	5920370	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	362617	5920370	135293061	1072	15455											
PTPRD	5789	genome.wustl.edu	37	chr9	8449822	8449822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctttttctagagtcGgactctgccctcttcctata	6	16	7	12	1	3	1	0	0	3	1	5	2	4	2	2	1	3	2	2	1	3	6	rs377680593		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:8449822G>A	ENST00000381196.4	-	31	4434	c.3891C>T	c.(3889-3891)tcC>tcT	p.S1297S	PTPRD_ENST00000360074.4_Silent_p.S1284S|PTPRD_ENST00000540109.1_Silent_p.S1297S|PTPRD_ENST00000397611.3_Silent_p.S887S|PTPRD_ENST00000358503.5_Silent_p.S1275S|PTPRD_ENST00000356435.5_Silent_p.S1297S|PTPRD_ENST00000537002.1_Silent_p.S887S|PTPRD_ENST00000397606.3_Silent_p.S876S|PTPRD_ENST00000355233.5_Silent_p.S891S|PTPRD_ENST00000397617.3_Silent_p.S876S|PTPRD_ENST00000486161.1_Silent_p.S890S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1297					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTAGAGTCGGACTCTGCCC	0.438										TSP Lung(15;0.13)																																							0								G	,,,,,	0,4406		0,0,2203	270	253	259		2661,2628,3891,2670,2673,2643	-11.2	0.1	9		259	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	887/1503,876/1506,1297/1913,890/1506,891/1507,881/1497	8449822	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3891C>T	9.37:g.8449822G>A			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.S1297	ENST00000381196.4	37	c.3891	CCDS43786.1	9																																																																																			PTPRD	-	NULL	ENSG00000153707		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	141	0	G			8449822	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	silent	43.98	93	73	SNP	0.031	A	A	8449822	G	A	8449822	2	1	58	1	0	0	0	0	0	0	0	1	12844	1103	39	1		1	PTPRD	9	8449822	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2529452	8449822	132763609	1073	15456											
CNTLN	54875	genome.wustl.edu	37	chr9	17135271	17135271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggggccggcgagggcctGggggggcagctccggctcat	4	4	21	12	3	1	0	1	0	0	0	2	1	2	0	3	8	1	3	3	8	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:17135271G>T	ENST00000380647.3	+	1	292	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Missense_Mutation_p.G70W|CNTLN_ENST00000425824.1_Missense_Mutation_p.G70W|CNTLN_ENST00000262360.5_Missense_Mutation_p.G70W			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	70					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCGAGGGCCTGGGGGGGCAGC	0.687																																																	0																																										SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.208G>T	9.37:g.17135271G>T	ENSP00000370021:p.Gly70Trp		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.G70W	ENST00000380647.3	37	c.208	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466234	0.26335	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.77	2.91	0.33838	.	.	.	.	.	T	0.17959	0.0431	L	0.36672	1.1	0.09310	N	1	P;P;P;D	0.61697	0.771;0.771;0.924;0.99	B;B;B;P	0.62014	0.394;0.394;0.391;0.897	T	0.07712	-1.0758	9	0.72032	D	0.01	.	6.8098	0.23799	0.0958:0.177:0.7272:0.0	.	70;70;70;70	C9J1F9;Q9NXG0-2;Q9NXG0-3;B1AMC8	.;.;.;.	W	70	ENSP00000370021:G70W;ENSP00000392798:G70W;ENSP00000262360:G70W;ENSP00000370015:G70W	ENSP00000262360:G70W	G	+	1	0	CNTLN	17125271	0.003000	0.15002	0.002000	0.10522	0.055000	0.15305	1.334000	0.33827	0.703000	0.31848	-0.263000	0.10527	GGG	CNTLN	-	NULL	ENSG00000044459		0.687	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0	33	0	G	NM_017738		17135271	1			no_errors	ENST00000380647	ensembl	human	known	74_37	missense	14.29	20	5	SNP	0.002	T	T	17135271	G	T	17135271	3	4	58	1	0	0	0	0	1	0	0	0	3646	1348	47	3	210	3	CNTLN	9	17135271	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8685449	17135271	124078160	1074	15457											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18776908	18776908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgctccccaagacggCggtggtgctgcgctgcccgg	4	7	14	16	4	0	1	0	0	0	1	1	1	1	1	4	4	5	3	4	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:18776908C>T	ENST00000380548.4	+	19	3020	c.2681C>T	c.(2680-2682)gCg>gTg	p.A894V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	894	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAAGACGGCGGTGGTGCTG	0.682																																																	0													19	24	23					9																	18776908		2034	4173	6207	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2681C>T	9.37:g.18776908C>T	ENSP00000369921:p.Ala894Val		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A894V	ENST00000380548.4	37	c.2681	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488058	0.26686	.	.	ENSG00000178031	ENST00000380548	T	0.13778	2.56	5.48	4.57	0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	25.668500	0.04526	U	0.385529	T	0.13457	0.0326	N	0.16098	0.37	0.80722	D	1	B	0.26120	0.142	B	0.25140	0.058	T	0.08310	-1.0728	10	0.48119	T	0.1	.	16.2499	0.82478	0.0:0.867:0.133:0.0	.	894	Q8N6G6	ATL1_HUMAN	V	894	ENSP00000369921:A894V	ENSP00000369921:A894V	A	+	2	0	ADAMTSL1	18766908	0.445000	0.25657	0.002000	0.10522	0.038000	0.13279	4.755000	0.62198	1.287000	0.44583	-0.302000	0.09304	GCG	ADAMTSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000178031		0.682	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	55	0	C			18776908	1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	missense	42.86	32	24	SNP	0.137	T	T	18776908	C	T	18776908	3	4	58	1	0	0	0	0	1	0	0	0	274	768	27	1	2759	1	ADAMTSL1	9	18776908	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1641637	18776908	122436523	1075	15458											
HAUS6	54801	genome.wustl.edu	37	chr9	19058188	19058188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctggtttgtgtctttcGggtgtttgggaattcgagag	6	17	14	4	2	2	1	0	0	2	1	4	3	2	2	0	3	0	2	0	3	2	5	rs147153475	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:19058188G>A	ENST00000380502.3	-	16	3044	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	HAUS6_ENST00000380496.1_Silent_p.P723P	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	859					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTGTCTTTCGGGTGTTTGGG	0.408													G|||	2	0.000399361	0.0015	0	5008	,	,		19674	0		0	False		,,,				2504	0																0								G		2,4404	4.2+/-10.8	0,2,2201	191	186	188		2577	4.6	0.8	9	dbSNP_134	188	0,8600		0,0,4300	no	coding-synonymous	HAUS6	NM_017645.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		859/956	19058188	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2577C>T	9.37:g.19058188G>A			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	NULL	p.P859	ENST00000380502.3	37	c.2577	CCDS6489.1	9																																																																																			HAUS6	-	NULL	ENSG00000147874		0.408	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	-	0	98	0	G	NM_017645		19058188	-1	tier1	rs147153475	no_errors	ENST00000380502	ensembl	human	known	74_37	silent	31.68	69	32	SNP	0.224	A	A	19058188	G	A	19058188	2	1	58	1	0	0	0	0	0	0	0	1	6997	1103	39	1		1	HAUS6	9	19058188	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	281280	19058188	122155243	1076	15459											
MLLT3	4300	genome.wustl.edu	37	chr9	20363485	20363485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatactcacctgcgacttcgGctgcctcctctatttacagg	7	12	8	14	2	2	0	1	0	1	0	4	2	3	0	3	2	4	1	3	2	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:20363485G>T	ENST00000380338.4	-	7	1606	c.1320C>A	c.(1318-1320)agC>agA	p.S440R	MLLT3_ENST00000380321.1_Missense_Mutation_p.S34R|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_Missense_Mutation_p.S34R|MLLT3_ENST00000429426.2_Missense_Mutation_p.S437R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	440					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGCGACTTCGGCTGCCTCCTC	0.468			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0													155	134	141					9																	20363485		2203	4300	6503	SO:0001583	missense	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1320C>A	9.37:g.20363485G>T	ENSP00000369695:p.Ser440Arg		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S440R	ENST00000380338.4	37	c.1320	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588835	0.13812	.	.	ENSG00000171843	ENST00000380338;ENST00000355930;ENST00000380323;ENST00000429426;ENST00000540751;ENST00000380321	.	.	.	5.49	1.37	0.22104	.	0.174595	0.64402	D	0.000008	T	0.22085	0.0532	N	0.14661	0.345	0.44492	D	0.997432	P;B	0.41041	0.736;0.148	B;B	0.30029	0.11;0.034	T	0.03728	-1.1009	9	0.26408	T	0.33	-10.1161	9.9591	0.41686	0.3066:0.0:0.6934:0.0	.	437;440	B7Z755;P42568	.;AF9_HUMAN	R	440;34;34;437;479;34	.	ENSP00000348196:S34R	S	-	3	2	MLLT3	20353485	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.425000	0.21346	0.319000	0.23209	-0.152000	0.13540	AGC	MLLT3	-	NULL	ENSG00000171843		0.468	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0	56	0	G	NM_004529		20363485	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	missense	11.36	38	5	SNP	1.000	T	T	20363485	G	T	20363485	3	4	58	1	0	0	0	0	1	0	0	0	9666	1194	42	3	406	3	MLLT3	9	20363485	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1305297	20363485	120849946	1077	15460											
MLLT3	4300	genome.wustl.edu	37	chr9	20414367	20414367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctgctactgctgctgct	1	14	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:20414367G>A	ENST00000380338.4	-	5	763	c.477C>T	c.(475-477)agC>agT	p.S159S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S156S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	159	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctac	0.532			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"		L	0													8	14	12					9																	20414367		1631	3368	4999	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.477C>T	9.37:g.20414367G>A			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.S159	ENST00000380338.4	37	c.477	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0	61	0	G	NM_004529		20414367	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	silent	11.11	56	7	SNP	1.000	A	A	20414367	G	A	20414367	2	1	58	1	0	0	0	0	0	0	0	1	9666	1310	46	3		3	MLLT3	9	20414367	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	50882	20414367	120799064	1078	15461											
KIAA1797	54914	genome.wustl.edu	37	chr9	20988415	20988415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaacatcctttcacaataCggctcttgacaaggtaaaat	14	11	6	10	1	3	1	2	1	1	0	4	1	4	1	1	2	2	2	1	2	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:20988415C>T	ENST00000380249.1	+	43	5355	c.4991C>T	c.(4990-4992)aCg>aTg	p.T1664M	FOCAD_ENST00000605086.1_Missense_Mutation_p.T1100M|FOCAD_ENST00000338382.6_Missense_Mutation_p.T1664M	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1664						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TTTCACAATACGGCTCTTGAC	0.373																																																	0													113	106	108					9																	20988415		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4991C>T	9.37:g.20988415C>T	ENSP00000369599:p.Thr1664Met		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.T1664M	ENST00000380249.1	37	c.4991	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	6.807	0.518049	0.13005	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18502	2.21;2.21	6.17	3.86	0.44501	.	0.312792	0.34725	N	0.003723	T	0.09247	0.0228	N	0.08118	0	0.20821	N	0.999848	B	0.11235	0.004	B	0.08055	0.003	T	0.24368	-1.0162	10	0.52906	T	0.07	-14.1861	10.57	0.45194	0.0:0.1292:0.0:0.8708	.	1664	Q5VW36	K1797_HUMAN	M	1664	ENSP00000369599:T1664M;ENSP00000344307:T1664M	ENSP00000344307:T1664M	T	+	2	0	KIAA1797	20978415	0.997000	0.39634	0.992000	0.48379	0.139000	0.21198	0.259000	0.18405	0.580000	0.29522	-0.238000	0.12139	ACG	FOCAD	-	pfam_DUF3028	ENSG00000188352		0.373	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	-	0	33	0	C	NM_017794		20988415	1	tier1	-	no_errors	ENST00000338382	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	T	T	20988415	C	T	20988415	3	4	58	1	0	0	0	0	1	0	0	0	8285	536	19	1	5149	1	KIAA1797	9	20988415	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	574048	20988415	120225016	1079	15462											
IFNB1	3456	genome.wustl.edu	37	chr9	21077745	21077745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccattcaattgccacaGgagcttctgacactgaaaat	12	10	6	13	0	2	2	1	2	1	0	3	3	3	3	3	1	2	1	3	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:21077745G>T	ENST00000380232.2	-	1	198	c.124C>A	c.(124-126)Ctg>Atg	p.L42M		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	42					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		AATTGCCACAGGAGCTTCTGA	0.468																																																	0													56	57	57					9																	21077745		2203	4300	6503	SO:0001583	missense	0				CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"Interferons"	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.124C>A	9.37:g.21077745G>T	ENSP00000369581:p.Leu42Met		Q5VWC9	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L42M	ENST00000380232.2	37	c.124	CCDS6495.1	9	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663283	0.67700	.	.	ENSG00000171855	ENST00000380232	T	0.46451	0.87	5.42	5.42	0.78866	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000002	T	0.71854	0.3389	M	0.91612	3.225	0.47065	D	0.999303	D	0.89917	1.0	D	0.97110	1.0	T	0.77236	-0.2662	10	0.62326	D	0.03	-9.2211	16.2451	0.82437	0.0:0.0:1.0:0.0	.	42	P01574	IFNB_HUMAN	M	42	ENSP00000369581:L42M	ENSP00000369581:L42M	L	-	1	2	IFNB1	21067745	0.991000	0.36638	0.962000	0.40283	0.645000	0.38454	1.305000	0.33493	2.820000	0.97059	0.650000	0.86243	CTG	IFNB1	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000171855		0.468	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNB1	HGNC	protein_coding	OTTHUMT00000051881.1	-	0	40	0	G	NM_002176		21077745	-1	tier1	-	no_errors	ENST00000380232	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.996	T	T	21077745	G	T	21077745	3	4	58	1	0	0	0	0	1	0	0	0	7573	991	35	3	443	3	IFNB1	9	21077745	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	89330	21077745	120135686	1080	15463											
IFNE	338376	genome.wustl.edu	37	chr9	21481450	21481450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctgaagcatctcatGgagaatggccagagtgtgtc	10	10	13	8	0	2	3	1	1	2	2	4	5	2	3	1	2	2	2	1	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:21481450G>T	ENST00000448696.3	-	1	862	c.244C>A	c.(244-246)Cat>Aat	p.H82N	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	82					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.H82Y(1)		large_intestine(2)|lung(1)|skin(1)	4						AGCATCTCATGGAGAATGGCC	0.453																																																	1	Substitution - Missense(1)	skin(1)											93	87	89					9																	21481450		2203	4300	6503	SO:0001583	missense	0			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.244C>A	9.37:g.21481450G>T	ENSP00000418018:p.His82Asn			Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.H82N	ENST00000448696.3	37	c.244	CCDS34997.1	9	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642030	0.29157	.	.	ENSG00000184995	ENST00000448696	T	0.03635	3.86	4.93	3.09	0.35607	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.632498	0.14286	U	0.329190	T	0.12178	0.0296	M	0.86805	2.84	0.29758	N	0.83581	P	0.46706	0.883	P	0.49140	0.601	T	0.02958	-1.1089	10	0.87932	D	0	.	9.2369	0.37473	0.1516:0.0:0.8484:0.0	.	82	Q86WN2	IFNE_HUMAN	N	82	ENSP00000418018:H82N	ENSP00000418018:H82N	H	-	1	0	IFNE	21471450	0.995000	0.38212	0.715000	0.30552	0.048000	0.14542	2.658000	0.46733	0.783000	0.33636	0.655000	0.94253	CAT	IFNE	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000184995		0.453	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	HGNC	protein_coding	OTTHUMT00000051901.2		0	21	0	G	NM_176891		21481450	-1			no_errors	ENST00000448696	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.858	T	T	21481450	G	T	21481450	3	4	58	1	0	0	0	0	1	0	0	0	7574	1348	47	3	386	3	IFNE	9	21481450	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	403705	21481450	119731981	1081	15464											
ELAVL2	1993	genome.wustl.edu	37	chr9	23692567	23692567	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctcattaggctttgtgCgttttgtttgtcttaaagga	8	17	11	5	1	2	1	1	0	1	1	2	2	2	2	0	2	2	4	0	2	3	6	rs372576559		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:23692567C>T	ENST00000397312.2	-	7	1342	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	ELAVL2_ENST00000380117.1_Silent_p.T356T|ELAVL2_ENST00000380110.4_Silent_p.T386T|ELAVL2_ENST00000223951.6_Silent_p.T343T|ELAVL2_ENST00000544538.1_Silent_p.T356T	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	356					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGGCTTTGTGCGTTTTGTTTG	0.398																																																	0								C	,,	0,4406		0,0,2203	50	48	49		1029,1029,1068	5.9	1	9		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ELAVL2	NM_001171195.1,NM_001171197.1,NM_004432.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	343/347,343/347,356/360	23692567	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.1068G>A	9.37:g.23692567C>T			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.T356	ENST00000397312.2	37	c.1068	CCDS6515.1	9																																																																																			ELAVL2	-	tigrfam_ELAD_HUD_SF	ENSG00000107105		0.398	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0	27	0	C	NM_004432		23692567	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	silent	32.56	29	14	SNP	1.000	T	T	23692567	C	T	23692567	2	4	58	1	0	0	0	0	0	0	0	1	5066	755	27	1		1	ELAVL2	9	23692567	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2211117	23692567	117520864	1082	15465											
TEK	7010	genome.wustl.edu	37	chr9	27158026	27158026	+	Frame_Shift_Del	DEL	A	A	-																															atgtgaccagagaatgggctAaaaaagttgtttggaagaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:27158026delA	ENST00000380036.4	+	2	692	c.250delA	c.(250-252)aaafs	p.K85fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.K85fs|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	85	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AGAATGGGCTAAAAAAGTTGT	0.468																																																	0													98	99	99					9																	27158026		2203	4300	6503	SO:0001589	frameshift_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.250delA	9.37:g.27158026delA	ENSP00000369375:p.Lys85fs		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V86fs	ENST00000380036.4	37	c.250	CCDS6519.1	9																																																																																			TEK	-	pfam_Tyr_kin_Tie2_Ig-like_dom-1_N	ENSG00000120156		0.468	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3		0	95	0	A			27158026	1	tier1		no_errors	ENST00000380036	ensembl	human	known	74_37	frame_shift_del	32.14	95	45	DEL	1.000	-	-	27158026	A	-	27158026	7	5	58	1	0	1	0	1	0	0	0	0	15798	363	13	0	256	0	TEK	9	27158026	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	3465459	27158026	114055405	1083	15466											
TEK	7010	genome.wustl.edu	37	chr9	27180305	27180305	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaatggggagatgtgTgatcgcttccaaggatgtct	10	11	13	7	1	1	2	0	1	1	1	3	4	2	3	1	3	2	2	1	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:27180305T>A	ENST00000380036.4	+	7	1411	c.969T>A	c.(967-969)tgT>tgA	p.C323*	TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	323	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGGAGATGTGTGATCGCTTCC	0.493																																																	0													140	111	121					9																	27180305		2203	4300	6503	SO:0001587	stop_gained	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.969T>A	9.37:g.27180305T>A	ENSP00000369375:p.Cys323*		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C323*	ENST00000380036.4	37	c.969	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	T	37	6.254093	0.97417	.	.	ENSG00000120156	ENST00000380036	.	.	.	5.1	-1.84	0.07809	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2125	0.43150	0.0:0.343:0.0:0.657	.	.	.	.	X	323	.	ENSP00000369375:C323X	C	+	3	2	TEK	27170305	0.039000	0.19947	0.832000	0.32986	0.287000	0.27160	-1.256000	0.02869	-0.479000	0.06813	0.528000	0.53228	TGT	TEK	-	smart_EG-like_dom	ENSG00000120156		0.493	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0	111	0	T			27180305	1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	nonsense	49.53	54	53	SNP	0.995	A	A	27180305	T	A	27180305	4	1	58	1	0	0	0	0	0	1	0	0	15798	1702	59	5	995	5	TEK	9	27180305	Nonsense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	22279	27180305	114033126	1084	15467											
TEK	7010	genome.wustl.edu	37	chr9	27212888	27212888	+	Frame_Shift_Del	DEL	A	A	-																															gggcatggactacttgagccAaaaacaggtttgtccggagg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:27212888delA	ENST00000380036.4	+	17	3312	c.2870delA	c.(2869-2871)caafs	p.Q957fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.Q914fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.Q809fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	957	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TACTTGAGCCAAAAACAGGTT	0.522																																																	0													55	50	51					9																	27212888		2203	4300	6503	SO:0001589	frameshift_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2870delA	9.37:g.27212888delA	ENSP00000369375:p.Gln957fs		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K958fs	ENST00000380036.4	37	c.2870	CCDS6519.1	9																																																																																			TEK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000120156		0.522	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3		0	65	0	A			27212888	1	tier1		no_errors	ENST00000380036	ensembl	human	known	74_37	frame_shift_del	33.33	36	18	DEL	1.000	-	-	27212888	A	-	27212888	7	5	58	1	0	1	0	1	0	0	0	0	15798	130	5	0	2936	0	TEK	9	27212888	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	32583	27212888	114000543	1085	15468											
TAF1L	138474	genome.wustl.edu	37	chr9	32630106	32630106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctttcttcattttccGtgcccatccttgtgttctcc	3	19	5	14	1	4	0	2	0	2	0	7	0	6	0	4	0	2	2	4	0	0	6	rs202147126		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:32630106G>A	ENST00000242310.4	-	1	5561	c.5472C>T	c.(5470-5472)caC>caT	p.H1824H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1824			H -> Q (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.H1824Q(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCATTTTCCGTGCCCATCCT	0.493																																																	2	Substitution - Missense(2)	lung(2)											191	138	156					9																	32630106		2203	4300	6503	SO:0001819	synonymous_variant	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5472C>T	9.37:g.32630106G>A			Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.H1824	ENST00000242310.4	37	c.5472	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0	92	0	G			32630106	-1	tier1	rs202147126	no_errors	ENST00000242310	ensembl	human	known	74_37	silent	41.33	44	31	SNP	1.000	A	A	32630106	G	A	32630106	2	1	58	1	0	0	0	0	0	0	0	1	15570	1136	40	1		1	TAF1L	9	32630106	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5417218	32630106	108583325	1086	15469											
DNAJA1	3301	genome.wustl.edu	37	chr9	33030485	33030485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgtcccaattgccgaGgtactggaatgcaaataaga	13	9	11	8	1	0	1	0	0	0	1	1	3	1	2	2	2	4	3	2	2	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33030485G>T	ENST00000330899.4	+	5	646	c.463G>T	c.(463-465)Ggt>Tgt	p.G155C	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	155					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CAATTGCCGAGGTACTGGAAT	0.418																																																	0													77	68	71					9																	33030485		2203	4300	6503	SO:0001583	missense	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.463G>T	9.37:g.33030485G>T	ENSP00000369127:p.Gly155Cys		Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.G155C	ENST00000330899.4	37	c.463	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360861	0.82353	.	.	ENSG00000086061	ENST00000330899	T	0.58797	0.31	4.79	4.79	0.61399	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	H	0.99911	4.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93448	0.6799	10	0.87932	D	0	-9.8926	15.6808	0.77367	0.0:0.0:1.0:0.0	.	155;155	Q86TL9;P31689	.;DNJA1_HUMAN	C	155	ENSP00000369127:G155C	ENSP00000369127:G155C	G	+	1	0	DNAJA1	33020485	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.655000	0.98512	2.377000	0.81083	0.313000	0.20887	GGT	DNAJA1	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000086061		0.418	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	-	0	25	0	G			33030485	1	tier1	-	no_errors	ENST00000330899	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	T	T	33030485	G	T	33030485	3	4	58	1	0	0	0	0	1	0	0	0	4625	1000	35	3	477	3	DNAJA1	9	33030485	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	400379	33030485	108182946	1087	15470											
DNAJA1	3301	genome.wustl.edu	37	chr9	33037063	33037063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtactaaatgaaggcatgCcaatttatcgtagaccatat	14	12	8	7	1	0	2	0	1	0	1	1	2	0	2	2	1	2	3	2	1	8	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33037063C>T	ENST00000330899.4	+	8	1108	c.925C>T	c.(925-927)Cca>Tca	p.P309S	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.P152S	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	309					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGAAGGCATGCCAATTTATCG	0.348																																																	0													152	132	139					9																	33037063		2203	4300	6503	SO:0001583	missense	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"Heat shock proteins / DNAJ (HSP40)"	5229	protein-coding gene	gene with protein product	"neural precursor cell expressed, developmentally down-regulated 7"	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.925C>T	9.37:g.33037063C>T	ENSP00000369127:p.Pro309Ser		Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.P309S	ENST00000330899.4	37	c.925	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.106419	0.94292	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.57107	0.42;0.42	5.11	5.11	0.69529	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	H	0.95328	3.655	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.58577	0.687;0.841	D	0.84704	0.0730	10	0.62326	D	0.03	-3.2559	16.3954	0.83604	0.0:1.0:0.0:0.0	.	309;309	Q86TL9;P31689	.;DNJA1_HUMAN	S	309;152;152	ENSP00000369127:P309S;ENSP00000439010:P152S	ENSP00000369127:P309S	P	+	1	0	DNAJA1	33027063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.552000	0.86080	0.591000	0.81541	CCA	DNAJA1	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000086061		0.348	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	-	0	76	0	C			33037063	1	tier1	-	no_errors	ENST00000330899	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	T	T	33037063	C	T	33037063	3	4	58	1	0	0	0	0	1	0	0	0	4625	739	26	3	951	3	DNAJA1	9	33037063	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6578	33037063	108176368	1088	15471											
KIAA1161	57462	genome.wustl.edu	37	chr9	34371719	34371719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcgcacgaacagctcgCgctccacgccctcgccgaag	7	5	11	18	8	0	0	0	0	0	0	4	2	1	0	3	0	2	4	3	0	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:34371719C>T	ENST00000297625.7	-	2	1346	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	408					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GAACAGCTCGCGCTCCACGCC	0.682																																																	0													22	26	25					9																	34371719		2030	4154	6184	SO:0001583	missense	0			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1121G>A	9.37:g.34371719C>T	ENSP00000297625:p.Arg374His		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	p.R374H	ENST00000297625.7	37	c.1121		9	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524301	0.44866	.	.	ENSG00000164976	ENST00000297625	T	0.43294	0.95	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.113392	0.56097	D	0.000034	T	0.34106	0.0886	L	0.42245	1.32	0.36447	D	0.865844	P	0.46457	0.878	B	0.34590	0.186	T	0.43327	-0.9398	10	0.33940	T	0.23	-18.2902	17.6599	0.88189	0.0:1.0:0.0:0.0	.	408	Q6NSJ0	K1161_HUMAN	H	374	ENSP00000297625:R374H	ENSP00000297625:R374H	R	-	2	0	KIAA1161	34361719	0.988000	0.35896	1.000000	0.80357	0.957000	0.61999	3.091000	0.50199	2.506000	0.84524	0.462000	0.41574	CGC	KIAA1161	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000164976		0.682	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	KIAA1161	HGNC	protein_coding	OTTHUMT00000052158.1	-	0	17	0	C	XM_351807		34371719	-1	tier1	-	no_errors	ENST00000297625	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.999	T	T	34371719	C	T	34371719	3	4	58	1	0	0	0	0	1	0	0	0	8238	768	27	1	925	1	KIAA1161	9	34371719	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1334656	34371719	106841712	1089	15472											
KIAA1539	80256	genome.wustl.edu	37	chr9	35106613	35106613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggggctcagcaggcctggCcccttccggaggcttcgaag	5	6	17	13	2	1	0	1	0	0	0	3	2	2	1	4	7	1	3	4	7	1	2	rs370170024		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35106613C>T	ENST00000378561.1	-	4	4036	c.981G>A	c.(979-981)ggG>ggA	p.G327G	FAM214B_ENST00000488109.2_Silent_p.G327G|FAM214B_ENST00000378554.2_Silent_p.G327G|FAM214B_ENST00000322813.5_Silent_p.G327G|FAM214B_ENST00000378557.1_Silent_p.G327G|FAM214B_ENST00000605244.1_Silent_p.G327G|FAM214B_ENST00000378566.1_Silent_p.G22G|FAM214B_ENST00000603301.1_Silent_p.G327G|FAM214B_ENST00000605392.1_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	327						nucleus (GO:0005634)											GCAGGCCTGGCCCCTTCCGGA	0.617																																																	0													10	12	11					9																	35106613		2170	4261	6431	SO:0001819	synonymous_variant	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.981G>A	9.37:g.35106613C>T			B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	NULL	p.G327	ENST00000378561.1	37	c.981	CCDS6578.1	9																																																																																			FAM214B	-	NULL	ENSG00000005238		0.617	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0	29	0	C	NM_025182		35106613	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	silent	42.86	12	9	SNP	0.463	T	T	35106613	C	T	35106613	2	4	58	1	0	0	0	0	0	0	0	1	8269	726	26	3		3	KIAA1539	9	35106613	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	734894	35106613	106106818	1090	15473											
UNC13B	10497	genome.wustl.edu	37	chr9	35396556	35396556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccacaatgaatacgtgCgggatctgcctgtcctccag	8	9	11	13	2	1	1	0	1	1	0	4	2	4	2	4	2	3	1	4	2	3	1	rs151027172	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35396556C>T	ENST00000378495.3	+	26	3367	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	UNC13B_ENST00000378496.4_Missense_Mutation_p.R1049W|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1061W	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1049	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAATACGTGCGGGATCTGCC	0.552																																																	0								C	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	107	89	95		3145	4.8	0.2	9	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UNC13B	NM_006377.3	101	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging	1049/1592	35396556	5,13001	2203	4300	6503	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3145C>T	9.37:g.35396556C>T	ENSP00000367756:p.Arg1049Trp		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R1049W	ENST00000378495.3	37	c.3145	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500901	0.64298	9.08E-4	1.16E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84730	-1.76;-1.69;-1.89	5.66	4.76	0.60689	Munc13 homology 1 (1);	0.523790	0.23100	N	0.051936	D	0.82379	0.5024	L	0.36672	1.1	0.30541	N	0.766439	D;D	0.71674	0.998;0.997	P;P	0.50192	0.613;0.634	T	0.81581	-0.0867	10	0.72032	D	0.01	-0.3098	9.6012	0.39605	0.0:0.7588:0.1289:0.1123	.	1049;1049	F8W8M9;O14795	.;UN13B_HUMAN	W	1061;1049;1049;636	ENSP00000380006:R1061W;ENSP00000367756:R1049W;ENSP00000367757:R1049W	ENSP00000367756:R1049W	R	+	1	2	UNC13B	35386556	0.004000	0.15560	0.225000	0.23894	0.885000	0.51271	1.116000	0.31221	1.381000	0.46364	0.557000	0.71058	CGG	UNC13B	-	NULL	ENSG00000198722		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	-	0	42	0	C	NM_006377		35396556	1	tier1	rs151027172	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	42.50	23	17	SNP	0.483	T	T	35396556	C	T	35396556	3	4	58	1	0	0	0	0	1	0	0	0	17034	759	27	1	3247	1	UNC13B	9	35396556	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	289943	35396556	105816875	1091	15474											
RUSC2	9853	genome.wustl.edu	37	chr9	35555543	35555543	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctcccagcagccgcAgaaggaggatcagaagatac	13	4	11	13	1	1	3	1	0	0	3	2	5	2	5	4	2	4	2	4	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35555543A>C	ENST00000455600.1	+	3	3070	c.2501A>C	c.(2500-2502)cAg>cCg	p.Q834P		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	834						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCAGCCGCAGAAGGAGGAT	0.637																																																	0													49	48	49					9																	35555543		2203	4299	6502	SO:0001583	missense	0			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2501A>C	9.37:g.35555543A>C	ENSP00000393922:p.Gln834Pro		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.Q834P	ENST00000455600.1	37	c.2501	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	A	4.156	0.027379	0.08054	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.22539	1.95;1.95	3.82	-1.81	0.07882	.	0.828086	0.10979	N	0.612861	T	0.07458	0.0188	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36237	-0.9756	10	0.27082	T	0.32	-0.2733	5.9208	0.19080	0.3276:0.5595:0.1129:0.0	.	834	Q8N2Y8	RUSC2_HUMAN	P	834	ENSP00000355177:Q834P;ENSP00000393922:Q834P	ENSP00000355177:Q834P	Q	+	2	0	RUSC2	35545543	0.004000	0.15560	0.842000	0.33263	0.974000	0.67602	-0.380000	0.07427	-0.166000	0.10890	0.533000	0.62120	CAG	RUSC2	-	NULL	ENSG00000198853		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	-	0	52	0	A	XM_048462		35555543	1	tier1	-	no_errors	ENST00000361226	ensembl	human	known	74_37	missense	36.73	31	18	SNP	0.129	C	C	35555543	A	C	35555543	3	2	58	1	0	0	0	0	1	0	0	0	13796	188	7	4	2507	4	RUSC2	9	35555543	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	158987	35555543	105657888	1092	15475											
NPR2	4882	genome.wustl.edu	37	chr9	35792472	35792472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcgtcctcccggggcgCggaacctgacgctggcggtg	3	6	19	13	6	0	1	0	1	0	0	2	2	2	2	3	6	2	1	3	6	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35792472C>T	ENST00000342694.2	+	1	322	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	23					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCCGGGGCGCGGAACCTGAC	0.677																																																	0													26	28	28					9																	35792472		2200	4298	6498	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.67C>T	9.37:g.35792472C>T	ENSP00000341083:p.Arg23Trp		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.R23W	ENST00000342694.2	37	c.67	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262149	0.80358	.	.	ENSG00000159899	ENST00000342694	T	0.81330	-1.48	4.09	4.09	0.47781	.	0.000000	0.40385	N	0.001119	T	0.77458	0.4133	N	0.08118	0	0.41027	D	0.985128	D;P	0.76494	0.999;0.915	D;P	0.65233	0.933;0.522	T	0.82068	-0.0640	10	0.62326	D	0.03	.	13.5193	0.61559	0.0:1.0:0.0:0.0	.	23;23	P20594-2;P20594	.;ANPRB_HUMAN	W	23	ENSP00000341083:R23W	ENSP00000341083:R23W	R	+	1	2	NPR2	35782472	.	.	0.985000	0.45067	0.962000	0.63368	.	.	2.261000	0.74972	0.563000	0.77884	CGG	NPR2	-	superfamily_Peripla_BP_I	ENSG00000159899		0.677	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	-	0	133	0	C			35792472	1	tier1	-	no_errors	ENST00000342694	ensembl	human	known	74_37	missense	38.39	69	43	SNP	0.991	T	T	35792472	C	T	35792472	3	4	58	1	0	0	0	0	1	0	0	0	10634	759	27	1	69	1	NPR2	9	35792472	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	236929	35792472	105420959	1093	15476											
GNE	10020	genome.wustl.edu	37	chr9	36249366	36249366	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccatgatttgcttgtttCgttttgagaggttcttaaaa	8	19	8	6	1	2	2	0	2	2	1	4	3	2	2	1	1	1	4	1	1	2	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:36249366C>T	ENST00000539815.1	-	0	27				GNE_ENST00000377902.5_5'UTR|GNE_ENST00000396594.3_Missense_Mutation_p.R27Q|GNE_ENST00000543356.2_Intron|GNE_ENST00000447283.2_5'UTR|GNE_ENST00000539208.1_Intron			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase						carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTGCTTGTTTCGTTTTGAGAG	0.343																																					GBM(184;106 2118 20004 35750 50727)												0													126	108	114					9																	36249366		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.-14G>A	9.37:g.36249366C>T			A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.R27Q	ENST00000539815.1	37	c.80	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109266	0.20714	.	.	ENSG00000159921	ENST00000396594	D	0.99598	-6.26	4.83	-5.4	0.02656	.	.	.	.	.	D	0.97807	0.9280	.	.	.	0.09310	N	0.999993	B	0.06786	0.001	B	0.01281	0.0	D	0.91736	0.5400	8	0.30078	T	0.28	0.3459	14.7245	0.69332	0.0:0.2017:0.0:0.7983	.	27	Q9Y223-2	.	Q	27	ENSP00000379839:R27Q	ENSP00000379839:R27Q	R	-	2	0	GNE	36239366	0.509000	0.26163	0.000000	0.03702	0.733000	0.41908	-0.148000	0.10219	-1.261000	0.02462	0.561000	0.74099	CGA	GNE	-	NULL	ENSG00000159921		0.343	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4		0	14	0	C	NM_005476		36249366	-1			no_errors	ENST00000396594	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	T	T	36249366	C	T	36249366	1	4	58	0	1	0	0	0	0	0	0	0	6548	884	31	1		1	GNE	9	36249366	5'UTR	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	456894	36249366	104964065	1094	15477											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39102541	39102541	+	Frame_Shift_Del	DEL	G	G	-																															aacgaacgtgcccatcagcaGgggcaggctgcatcttctga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:39102541delG	ENST00000297668.6	-	17	2781	c.2708delC	c.(2707-2709)cctfs	p.P903fs	CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.P902fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.P815fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	903	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCATCAGCAGGGGCAGGCTG	0.493																																																	0													4	4	4					9																	39102541		1911	3869	5780	SO:0001589	frameshift_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2708delC	9.37:g.39102541delG	ENSP00000297668:p.Pro903fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P903fs	ENST00000297668.6	37	c.2708	CCDS6616.1	9																																																																																			CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.493	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1		0	44	0	G	NM_033655		39102541	-1			no_errors	ENST00000297668	ensembl	human	known	74_37	frame_shift_del	34.15	27	14	DEL	0.923	0	-	39102541	G	-	39102541	7	5	58	1	0	1	0	1	0	0	0	0	3655	1000	35	0	1190	0	CNTNAP3	9	39102541	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	2853175	39102541	102110890	1095	15478											
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69421905	69421905	+	Frame_Shift_Del	DEL	A	A	-																															caaatgttaatatgctgtacAaaaaaaatagagaagaatta																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:69421905delA	ENST00000357336.3	+	14	1650	c.1369delA	c.(1369-1371)aaafs	p.K458fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	458										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TATGCTGTACAAAAAAAATAG	0.269																																																	0													2	2	2					9																	69421905		406	1294	1700	SO:0001589	frameshift_variant	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1369delA	9.37:g.69421905delA	ENSP00000349891:p.Lys458fs			Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N459fs	ENST00000357336.3	37	c.1369	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL	ENSG00000172014		0.269	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3		0	64	0	A	NM_001098805		69421905	1			no_errors	ENST00000357336	ensembl	human	known	74_37	frame_shift_del	12.70	55	8	DEL	0.373	0	-	69421905	A	-	69421905	7	5	58	1	0	1	0	1	0	0	0	0	650	131	5	0	1423	0	ANKRD20A4	9	69421905	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	30319364	69421905	71791526	1096	15479											
FOXD4L5	653427	genome.wustl.edu	37	chr9	70177789	70177789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggggaagcgcaaccccGccccaccgggccacctgcag	7	3	12	19	4	1	0	0	0	1	0	2	1	1	1	7	3	3	2	7	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:70177789G>A	ENST00000377420.1	-	1	1026	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	65					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GCGCAACCCCGCCCCACCGGG	0.672																																																	0													14	32	26					9																	70177789		332	700	1032	SO:0001819	synonymous_variant	0				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.195C>T	9.37:g.70177789G>A				Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G65	ENST00000377420.1	37	c.195	CCDS47977.1	9																																																																																			FOXD4L5	-	NULL	ENSG00000204779		0.672	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	HGNC	protein_coding	OTTHUMT00000037122.1	-	0	84	0	G	NM_001126334		70177789	-1	tier1	-	no_errors	ENST00000377420	ensembl	human	known	74_37	silent	15.00	68	12	SNP	0.026	A	A	70177789	G	A	70177789	2	1	58	1	0	0	0	0	0	0	0	1	6026	1074	38	1		1	FOXD4L5	9	70177789	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	755884	70177789	71035642	1097	15480											
FAM108B1	51104	genome.wustl.edu	37	chr9	74481778	74481778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaagttccacatcattGtgacctgctccttcaaccca	11	11	4	15	0	2	1	2	1	0	0	4	1	4	1	5	0	2	2	5	0	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:74481778G>T	ENST00000333421.6	-	4	903	c.792C>A	c.(790-792)caC>caA	p.H264Q	ABHD17B_ENST00000377041.2_Missense_Mutation_p.H264Q	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	264						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CCACATCATTGTGACCTGCTC	0.418																																																	0													84	77	80					9																	74481778		2203	4300	6503	SO:0001583	missense	0			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"Abhydrolase domain containing"	24278	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 77", "family with sequence similarity 108, member B1"	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.792C>A	9.37:g.74481778G>T	ENSP00000330222:p.His264Gln		A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.H264Q	ENST00000333421.6	37	c.792	CCDS35043.1	9	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229033	0.58777	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	D;D	0.91351	-2.83;-2.83	5.59	2.75	0.32379	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96641	0.9474	10	0.87932	D	0	-9.0975	10.9748	0.47459	0.278:0.0:0.722:0.0	.	264;264	Q5VST6;Q5VST6-2	F108B_HUMAN;.	Q	264	ENSP00000366240:H264Q;ENSP00000330222:H264Q	ENSP00000330222:H264Q	H	-	3	2	FAM108B1	73671598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.279000	0.51670	0.850000	0.35239	0.655000	0.94253	CAC	ABHD17B	-	pfam_Peptidase_S9,pfam_Dienelactn_hydro	ENSG00000107362		0.418	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABHD17B	HGNC	protein_coding	OTTHUMT00000052625.1	-	0	62	0	G	NM_016014		74481778	-1	tier1	-	no_errors	ENST00000377041	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	74481778	G	T	74481778	3	4	58	1	0	0	0	0	1	0	0	0	5411	1368	48	3	109	3	FAM108B1	9	74481778	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4303989	74481778	66731653	1098	15481											
TRPM6	140803	genome.wustl.edu	37	chr9	77353400	77353400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaacatcagctcctccAgggtgttggtgggggtgatt	8	10	14	9	0	1	1	1	1	0	0	3	1	3	1	3	4	3	2	3	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:77353400A>G	ENST00000360774.1	-	36	5936	c.5699T>C	c.(5698-5700)cTg>cCg	p.L1900P	TRPM6_ENST00000361255.3_Missense_Mutation_p.L1895P|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1895P|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1904P|TRPM6_ENST00000376871.3_Missense_Mutation_p.L737P|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1904P|TRPM6_ENST00000376872.3_Missense_Mutation_p.L855P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1900	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGCTCCTCCAGGGTGTTGGT	0.468																																																	0													155	140	145					9																	77353400		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5699T>C	9.37:g.77353400A>G	ENSP00000354006:p.Leu1900Pro		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L1904P	ENST00000360774.1	37	c.5711	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611003	0.87258	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05;3.05	5.94	5.94	0.96194	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.53671	1.685	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.998;1.0	T	0.00275	-1.1856	10	0.87932	D	0	.	16.3947	0.83586	1.0:0.0:0.0:0.0	.	447;733;851;1900;1895;1895	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	P	1900;1904;855;737;1895;1895;446;1904	ENSP00000354006:L1900P;ENSP00000407341:L1904P;ENSP00000366068:L855P;ENSP00000366067:L737P;ENSP00000396672:L1895P;ENSP00000354962:L1895P;ENSP00000366060:L1904P	ENSP00000354006:L1900P	L	-	2	0	TRPM6	76543220	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.098000	0.94202	2.272000	0.75746	0.459000	0.35465	CTG	TRPM6	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000119121		0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	-	0	72	0	A	NM_017662		77353400	-1	tier1	-	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	39.51	49	32	SNP	1.000	G	G	77353400	A	G	77353400	3	3	58	1	0	0	0	0	1	0	0	0	16638	188	7	4	385	4	TRPM6	9	77353400	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2871622	77353400	63860031	1099	15482											
TLE1	7088	genome.wustl.edu	37	chr9	84208174	84208174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaccgtctgcagtaacGtggaaggagtatgcactttt	10	12	11	8	2	2	1	0	1	2	0	2	3	2	3	1	2	3	4	1	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:84208174G>A	ENST00000376499.3	-	15	2411	c.1347C>T	c.(1345-1347)caC>caT	p.H449H		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	449	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTGCAGTAACGTGGAAGGAGT	0.527																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0													65	60	62					9																	84208174		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1347C>T	9.37:g.84208174G>A			A8K495|Q5T3G4|Q969V9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.H449	ENST00000376499.3	37	c.1347	CCDS6661.1	9																																																																																			TLE1	-	superfamily_WD40_repeat_dom	ENSG00000196781		0.527	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	-	0	72	0	G	NM_005077		84208174	-1	tier1	-	no_errors	ENST00000376499	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	A	A	84208174	G	A	84208174	2	1	58	1	0	0	0	0	0	0	0	1	15985	1136	40	1		1	TLE1	9	84208174	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6854774	84208174	57005257	1100	15483											
KIF27	55582	genome.wustl.edu	37	chr9	86452378	86452378	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcctccttctggcttcagGactccatctccagcctcttg	4	13	6	18	0	4	0	1	0	3	0	8	1	7	1	6	2	1	1	6	2	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:86452378G>T	ENST00000297814.2	-	18	3887	c.3744C>A	c.(3742-3744)gtC>gtA	p.V1248V	RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|KIF27_ENST00000334204.2_Silent_p.V1151V|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000413982.1_Silent_p.V1182V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1248					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGGCTTCAGGACTCCATCTC	0.353																																																	0													60	63	62					9																	86452378		2202	4294	6496	SO:0001819	synonymous_variant	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3744C>A	9.37:g.86452378G>T			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1248	ENST00000297814.2	37	c.3744	CCDS6665.1	9																																																																																			KIF27	-	NULL	ENSG00000165115		0.353	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	-	0	38	0	G	NM_017576		86452378	-1	tier1	-	no_errors	ENST00000297814	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.005	T	T	86452378	G	T	86452378	2	4	58	1	0	0	0	0	0	0	0	1	8323	1161	41	3		3	KIF27	9	86452378	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2244204	86452378	54761053	1101	15484											
KIF27	55582	genome.wustl.edu	37	chr9	86495276	86495276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttttttcattttcttctCgtagttttctttgtagctgt	3	25	5	8	1	4	0	1	0	3	0	6	0	5	0	1	0	1	4	1	0	2	11	rs200952027		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:86495276C>T	ENST00000297814.2	-	11	2722	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q	KIF27_ENST00000376347.1_Missense_Mutation_p.R251Q|KIF27_ENST00000334204.2_Missense_Mutation_p.R860Q|KIF27_ENST00000413982.1_Intron	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	860					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATTTTCTTCTCGTAGTTTTCT	0.358																																																	0																																										SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2579G>A	9.37:g.86495276C>T	ENSP00000297814:p.Arg860Gln		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R860Q	ENST00000297814.2	37	c.2579	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872916	0.33069	.	.	ENSG00000165115	ENST00000297814;ENST00000334204;ENST00000376347	T;T;T	0.38887	1.11;1.11;1.11	4.92	4.02	0.46733	.	0.435730	0.17630	N	0.167410	T	0.39963	0.1098	M	0.71036	2.16	0.24499	N	0.994268	B;B	0.18968	0.032;0.021	B;B	0.10450	0.005;0.004	T	0.28839	-1.0031	10	0.33141	T	0.24	.	8.611	0.33801	0.0:0.7086:0.0:0.2914	.	860;860	Q86VH2-3;Q86VH2	.;KIF27_HUMAN	Q	860;860;251	ENSP00000297814:R860Q;ENSP00000333928:R860Q;ENSP00000365525:R251Q	ENSP00000297814:R860Q	R	-	2	0	KIF27	85685096	0.021000	0.18746	1.000000	0.80357	0.593000	0.36681	0.119000	0.15626	1.198000	0.43158	0.484000	0.47621	CGA	KIF27	-	NULL	ENSG00000165115		0.358	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	-	0	48	0	C	NM_017576		86495276	-1	tier1	rs200952027	no_errors	ENST00000297814	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.998	T	T	86495276	C	T	86495276	3	4	58	1	0	0	0	0	1	0	0	0	8323	884	31	1	1658	1	KIF27	9	86495276	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	42898	86495276	54718155	1102	15485											
SECISBP2	79048	genome.wustl.edu	37	chr9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccgcaaagctctggggCgcagtttgaataaggcagtt	11	9	12	9	2	2	1	1	1	1	0	2	1	2	1	1	3	2	6	1	3	4	3	rs554473793		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	736					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527													C|||	1	0.000199681	8e-04	0	5008	,	,		20805	0		0	False		,,,				2504	0																0													200	187	191					9																	91972418		2203	4300	6503	SO:0001583	missense	0			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2206C>T	9.37:g.91972418C>T	ENSP00000364965:p.Arg736Cys		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R736C	ENST00000375807.3	37	c.2206	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991652	0.93106	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056493	0.64402	D	0.000001	T	0.77948	0.4207	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.81531	-0.0890	10	0.87932	D	0	-12.9178	18.1344	0.89614	0.0:1.0:0.0:0.0	.	743;663;736	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	C	736;742;663;668	ENSP00000364965:R736C;ENSP00000364959:R663C;ENSP00000436650:R668C	ENSP00000364959:R663C	R	+	1	0	SECISBP2	91162238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.583000	0.87209	0.555000	0.69702	CGC	SECISBP2	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000187742		0.527	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3		0	29	0	C	NM_024077		91972418	1			no_errors	ENST00000375807	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T	T	91972418	C	T	91972418	3	4	58	1	0	0	0	0	1	0	0	0	14051	768	27	1	2264	1	SECISBP2	9	91972418	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5477142	91972418	49241013	1103	15486											
IARS	3376	genome.wustl.edu	37	chr9	95022503	95022503	+	Frame_Shift_Del	DEL	T	T	-																															attctttttccgtttgctcaTtttttggccatcacttgtaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95022503delT	ENST00000375643.3	-	18	2067	c.1801delA	c.(1801-1803)atgfs	p.M601fs	IARS_ENST00000443024.2_Frame_Shift_Del_p.M601fs|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame|IARS_ENST00000447699.2_Frame_Shift_Del_p.M491fs	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	601					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.M601fs*21(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CGTTTGCTCATTTTTTGGCCA	0.383																																																	1	Insertion - Frameshift(1)	large_intestine(1)											214	160	178					9																	95022503		2203	4300	6503	SO:0001589	frameshift_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1801delA	9.37:g.95022503delT	ENSP00000364794:p.Met601fs		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Frame_Shift_Del	DEL	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.M601fs	ENST00000375643.3	37	c.1801	CCDS6694.1	9																																																																																			IARS	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase	ENSG00000196305		0.383	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2		0	151	0	T	NM_002161		95022503	-1	tier1		no_errors	ENST00000375643	ensembl	human	known	74_37	frame_shift_del	27.89	106	41	DEL	1.000	-	-	95022503	T	-	95022503	7	5	58	1	0	1	0	1	0	0	0	0	7500	1493	52	0	2055	0	IARS	9	95022503	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3050085	95022503	46190928	1104	15487											
NOL8	55035	genome.wustl.edu	37	chr9	95072527	95072527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcatcggtgccaaagtgcGactgtaaatccatgagctac	11	10	10	10	2	1	1	1	1	0	0	3	2	2	1	2	1	4	2	2	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95072527G>A	ENST00000535387.1	-	8	2497	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	NOL8_ENST00000442668.2_Missense_Mutation_p.S871L|NOL8_ENST00000542053.1_Missense_Mutation_p.S803L|NOL8_ENST00000545558.1_Missense_Mutation_p.S871L|NOL8_ENST00000358855.4_Missense_Mutation_p.S803L					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GCCAAAGTGCGACTGTAAATC	0.443																																																	0													64	62	63					9																	95072527		1993	4180	6173	SO:0001583	missense	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2498C>T	9.37:g.95072527G>A	ENSP00000441300:p.Ser833Leu			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S871L	ENST00000535387.1	37	c.2612	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248696	0.39797	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.77	3.95	0.45737	.	0.219942	0.48767	N	0.000180	T	0.36468	0.0968	M	0.78637	2.42	0.43652	D	0.99606	P;P	0.41710	0.76;0.647	B;B	0.32533	0.147;0.093	T	0.38628	-0.9652	10	0.66056	D	0.02	-4.1246	12.4712	0.55787	0.1344:0.0:0.8656:0.0	.	803;871	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	L	871;835;803;871;833;803;871	ENSP00000401177:S871L;ENSP00000351723:S803L;ENSP00000441140:S871L;ENSP00000441300:S833L;ENSP00000440709:S803L;ENSP00000414112:S871L	ENSP00000351723:S803L	S	-	2	0	NOL8	94112348	1.000000	0.71417	0.921000	0.36526	0.518000	0.34316	6.627000	0.74258	0.804000	0.34136	-0.225000	0.12378	TCG	NOL8	-	NULL	ENSG00000198000		0.443	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	-	0	38	0	G	NM_017948		95072527	-1	tier1	-	no_errors	ENST00000442668	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.983	A	A	95072527	G	A	95072527	3	1	58	1	0	0	0	0	1	0	0	0	10566	1059	37	1	923	1	NOL8	9	95072527	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	50024	95072527	46140904	1105	15488											
OGN	4969	genome.wustl.edu	37	chr9	95155368	95155368	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatttcagcttaacttacGtatgtctgcaaaatctttgg	11	16	6	8	1	3	0	1	0	2	0	3	0	3	0	0	1	4	3	0	1	6	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95155368G>A	ENST00000262551.4	-	4	847	c.427C>T	c.(427-429)Cct>Tct	p.P143S	OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Splice_Site_p.P143S|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	143					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						CTTAACTTACGTATGTCTGCA	0.338																																																	0													74	66	69					9																	95155368		2203	4300	6503	SO:0001630	splice_region_variant	0			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8126	protein-coding gene	gene with protein product	"mimecan proteoglycan"	602383	"osteoglycin (osteoinductive factor)"			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.427+1C>T	9.37:g.95155368G>A			Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P143S	ENST00000262551.4	37	c.427	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128308	0.56721	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.56611	0.45;0.45;0.45	4.85	4.85	0.62838	.	0.172091	0.51477	D	0.000081	T	0.43500	0.1250	N	0.17764	0.52	0.80722	D	1	P;D	0.56521	0.939;0.976	P;P	0.47786	0.557;0.507	T	0.27905	-1.0060	9	.	.	.	.	14.2237	0.65845	0.0:0.0:0.8411:0.1589	.	201;143	B4DI63;P20774	.;MIME_HUMAN	S	143;143;201	ENSP00000262551:P143S;ENSP00000364711:P143S;ENSP00000396709:P201S	.	P	-	1	0	OGN	94195189	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.446000	0.52928	2.431000	0.82371	0.557000	0.71058	CCT	OGN	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000106809		0.338	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	-	0	82	0	G	NM_024416	Missense_Mutation	95155368	-1	tier1	-	no_errors	ENST00000262551	ensembl	human	known	74_37	missense	36.47	54	31	SNP	0.999	A	A	95155368	G	A	95155368	5	1	58	1	0	0	0	0	0	0	1	0	10885	1159	40	1	485	1	OGN	9	95155368	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	82841	95155368	46058063	1106	15489											
BICD2	23299	genome.wustl.edu	37	chr9	95481635	95481635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaggccaagatctcaggcCcgttgatgtccacctcgtag	8	9	11	13	2	1	2	1	1	1	1	4	2	2	2	4	2	1	3	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95481635C>A	ENST00000375512.3	-	5	1359	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	BICD2_ENST00000356884.6_Missense_Mutation_p.G431V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	431					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATCTCAGGCCCGTTGATGTC	0.642																																																	0													139	111	120					9																	95481635		2203	4300	6503	SO:0001583	missense	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1292G>T	9.37:g.95481635C>A	ENSP00000364662:p.Gly431Val		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.G431V	ENST00000375512.3	37	c.1292	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315092	0.81358	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.54675	0.56;0.56	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68307	-0.5443	10	0.33141	T	0.24	-68.9516	16.6104	0.84881	0.0:1.0:0.0:0.0	.	431;431	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	431	ENSP00000349351:G431V;ENSP00000364662:G431V	ENSP00000349351:G431V	G	-	2	0	BICD2	94521456	1.000000	0.71417	0.952000	0.39060	0.915000	0.54546	7.714000	0.84703	2.605000	0.88082	0.561000	0.74099	GGG	BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	-	0	92	0	C	NM_015250		95481635	-1	tier1	-	no_errors	ENST00000356884	ensembl	human	known	74_37	missense	48.53	35	33	SNP	1.000	A	A	95481635	C	A	95481635	3	1	58	1	0	0	0	0	1	0	0	0	1431	623	22	3	1297	3	BICD2	9	95481635	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	326267	95481635	45731796	1107	15490											
SUSD3	203328	genome.wustl.edu	37	chr9	95838089	95838089	+	Frame_Shift_Del	DEL	C	C	-																															cgtgcgctaagctgcggctaCccccgcaagcaaccttccaa																								rs201778335		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95838089delC	ENST00000375472.3	+	2	148	c.112delC	c.(112-114)cccfs	p.P39fs	SUSD3_ENST00000375469.1_Frame_Shift_Del_p.P26fs	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	39	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P38T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GCTGCGGCTACCCCCGCAAGC	0.682																																																	1	Substitution - Missense(1)	large_intestine(1)											66	52	57					9																	95838089		2203	4300	6503	SO:0001589	frameshift_variant	0			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.112delC	9.37:g.95838089delC	ENSP00000364621:p.Pro39fs		Q49AA6|Q6UXV7	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P39fs	ENST00000375472.3	37	c.112	CCDS6701.1	9																																																																																			SUSD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000157303		0.682	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD3	HGNC	protein_coding	OTTHUMT00000053120.1		0	47	0	C	NM_145006		95838089	1	tier1		no_errors	ENST00000375472	ensembl	human	known	74_37	frame_shift_del	28.57	30	12	DEL	0.494	-	-	95838089	C	-	95838089	7	5	58	1	0	1	0	1	0	0	0	0	15456	507	18	0	118	0	SUSD3	9	95838089	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	356454	95838089	45375342	1108	15491											
FAM120A	23196	genome.wustl.edu	37	chr9	96259883	96259884	+	Splice_Site	INS	-	-	A																															gttttccagcattcacaggtINSaaaaaaaaaaacaaacaaaa																								rs35062269|rs554262666|rs397936267	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96259883_96259884insA	ENST00000277165.6	+	4	1127		c.e4+2		FAM120A_ENST00000375389.3_Splice_Site|FAM120A_ENST00000340893.4_Splice_Site|FAM120A_ENST00000333936.5_Splice_Site	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A							cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATTCACAGGTAAAAAAAAAAA	0.436													|||unknown(HR)	1255	0.250599	0.4834	0.245	5008	,	,		26167	0.1835		0.1571	False		,,,				2504	0.1053																0																																										SO:0001630	splice_region_variant	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"DNA polymerase-transactivated protein 1", "oxidative stess-associated Src activator"	612265	"chromosome 9 open reading frame 10"	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.933+2->A	9.37:g.96259894_96259894dupA			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Splice_Site	INS	-	e4+2	ENST00000277165.6	37	c.933+2_933+1	CCDS6706.1	9																																																																																			FAM120A	-	-	ENSG00000048828		0.436	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2		0	37	0	-	NM_014612	Intron	96259884	1	tier1		no_errors	ENST00000333936	ensembl	human	known	74_37	splice_site_ins	17.46	52	11	INS	1.000:0.997	A	A	96259884	-	A	96259883	8	5	58	1	0	1	1	0	0	0	1	0	5434	1652	57	0	949	0	FAM120A	9	96259883	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	421794	96259883	44953548	1109	15492											
PHF2	5253	genome.wustl.edu	37	chr9	96422621	96422621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgtccaaaaaaaagActcccaaaactgtgaagatg	20	6	8	7	0	0	4	0	1	0	3	2	4	2	4	2	0	1	0	2	0	8	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96422621A>G	ENST00000359246.4	+	12	1844	c.1477A>G	c.(1477-1479)Act>Gct	p.T493A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	493	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAAAAAAAAGACTCCCAAAAC	0.582																																																	0													22	24	24					9																	96422621		2202	4299	6501	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1477A>G	9.37:g.96422621A>G	ENSP00000352185:p.Thr493Ala		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.T493A	ENST00000359246.4	37	c.1477	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718971	0.15372	.	.	ENSG00000197724	ENST00000359246	T	0.17213	2.29	3.83	3.83	0.44106	.	0.508219	0.21133	N	0.079615	T	0.10294	0.0252	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.18871	0.023	T	0.05818	-1.0862	10	0.07030	T	0.85	-4.436	12.7694	0.57412	1.0:0.0:0.0:0.0	.	493	O75151	PHF2_HUMAN	A	493	ENSP00000352185:T493A	ENSP00000352185:T493A	T	+	1	0	PHF2	95462442	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.830000	0.55768	1.611000	0.50210	0.254000	0.18369	ACT	PHF2	-	NULL	ENSG00000197724		0.582	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0	24	0	A	NM_005392		96422621	1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	G	G	96422621	A	G	96422621	3	3	58	1	0	0	0	0	1	0	0	0	11869	275	10	4	1523	4	PHF2	9	96422621	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	162738	96422621	44790810	1110	15493			1	13		3	3	59	N	C_A	9.194463e-06
PHF2	5253	genome.wustl.edu	37	chr9	96422642	96422642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccaaaactgtgaagatgCccaagccatccaaaatcccc	14	6	5	16	0	0	2	0	1	0	1	3	2	3	2	6	0	3	0	6	0	6	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96422642C>A	ENST00000359246.4	+	12	1865	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	500	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTGAAGATGCCCAAGCCATC	0.567																																																	0													18	20	19					9																	96422642		2196	4294	6490	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1498C>A	9.37:g.96422642C>A	ENSP00000352185:p.Pro500Thr		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P500T	ENST00000359246.4	37	c.1498	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130180	0.21041	.	.	ENSG00000197724	ENST00000359246	T	0.39997	1.05	3.83	3.83	0.44106	.	0.338536	0.32055	N	0.006644	T	0.21674	0.0522	N	0.08118	0	0.80722	D	1	B	0.22003	0.063	B	0.19666	0.026	T	0.06899	-1.0801	10	0.14656	T	0.56	-12.251	12.6861	0.56948	0.0:0.8331:0.1669:0.0	.	500	O75151	PHF2_HUMAN	T	500	ENSP00000352185:P500T	ENSP00000352185:P500T	P	+	1	0	PHF2	95462463	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.120000	0.64685	1.980000	0.57719	0.305000	0.20034	CCC	PHF2	-	NULL	ENSG00000197724		0.567	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0	21	0	C	NM_005392		96422642	1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	A	A	96422642	C	A	96422642	3	1	58	1	0	0	0	0	1	0	0	0	11869	739	26	3	1544	3	PHF2	9	96422642	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	21	96422642	44790789	1111	15494			1	13		3	3	59	N	C_A	9.194463e-06
PHF2	5253	genome.wustl.edu	37	chr9	96422679	96422679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagcccccgaagccccCtaagcccccaaggcccccca	9	1	6	25	1	0	0	0	0	0	0	0	1	0	0	11	1	3	0	11	1	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96422679C>A	ENST00000359246.4	+	12	1902	c.1535C>A	c.(1534-1536)cCt>cAt	p.P512H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	512	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ccgaagccccctaagccccca	0.562																																																	0													8	9	8					9																	96422679		2099	4091	6190	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1535C>A	9.37:g.96422679C>A	ENSP00000352185:p.Pro512His		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P512H	ENST00000359246.4	37	c.1535	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306082	0.60305	.	.	ENSG00000197724	ENST00000359246	T	0.42131	0.98	3.83	3.83	0.44106	.	0.118469	0.34507	U	0.003905	T	0.44519	0.1297	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.47509	-0.9112	10	0.48119	T	0.1	-14.2826	15.92	0.79556	0.0:1.0:0.0:0.0	.	512	O75151	PHF2_HUMAN	H	512	ENSP00000352185:P512H	ENSP00000352185:P512H	P	+	2	0	PHF2	95462500	1.000000	0.71417	0.821000	0.32701	0.563000	0.35712	5.324000	0.65863	1.980000	0.57719	0.305000	0.20034	CCT	PHF2	-	NULL	ENSG00000197724		0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0	12	0	C	NM_005392		96422679	1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	A	A	96422679	C	A	96422679	3	1	58	1	0	0	0	0	1	0	0	0	11869	681	24	3	1581	3	PHF2	9	96422679	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	37	96422679	44790752	1112	15495			1	13		3	3	59	N	C_A	9.194463e-06
PTCH1	5727	genome.wustl.edu	37	chr9	98209585	98209585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaaagcgtctctgcgcGgtctgtaggggggtggccac	6	10	15	10	3	3	0	1	0	2	0	4	0	3	0	1	5	2	1	1	5	3	2	rs536440590		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:98209585G>A	ENST00000331920.6	-	23	4252	c.3953C>T	c.(3952-3954)cCg>cTg	p.P1318L	PTCH1_ENST00000429896.2_Missense_Mutation_p.P1167L|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1317L|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1167L|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1167L|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1252L|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1252L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1318					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTCTCTGCGCGGTCTGTAGGG	0.667													G|||	1	0.000199681	0	0	5008	,	,		14655	0		0	False		,,,				2504	0.001																0													36	45	42					9																	98209585		2103	4139	6242	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3953C>T	9.37:g.98209585G>A	ENSP00000332353:p.Pro1318Leu		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.P1318L	ENST00000331920.6	37	c.3953	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918937	0.73098	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90504	-2.67;-2.66;-2.65;-2.65;-2.66;-2.65;-2.68	4.92	4.03	0.46877	.	0.055491	0.64402	N	0.000001	D	0.86306	0.5901	M	0.62723	1.935	0.80722	D	1	B;B;B	0.19445	0.025;0.025;0.036	B;B;B	0.15052	0.007;0.012;0.008	T	0.78841	-0.2045	10	0.05620	T	0.96	-14.9166	13.1007	0.59218	0.0769:0.0:0.9231:0.0	.	1252;1317;1318	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	L	1318;1252;1167;1167;1252;110;1167;1317	ENSP00000332353:P1318L;ENSP00000389744:P1252L;ENSP00000399981:P1167L;ENSP00000396135:P1167L;ENSP00000410287:P1252L;ENSP00000414823:P1167L;ENSP00000364423:P1317L	ENSP00000332353:P1318L	P	-	2	0	PTCH1	97249406	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.532000	0.53553	1.297000	0.44761	0.655000	0.94253	CCG	PTCH1	-	NULL	ENSG00000185920		0.667	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0	92	0	G	NM_000264		98209585	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	missense	43.02	48	37	SNP	1.000	A	A	98209585	G	A	98209585	3	1	58	1	0	0	0	0	1	0	0	0	12772	1116	39	1	394	1	PTCH1	9	98209585	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1786906	98209585	43003846	1113	15496											
ZNF782	158431	genome.wustl.edu	37	chr9	99581848	99581848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgaatactgacagtgtgGggccatcaggctgagcccct	8	11	12	10	0	1	3	1	3	0	0	1	3	1	3	3	3	2	1	3	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:99581848G>T	ENST00000481138.1	-	6	1118	c.457C>A	c.(457-459)Cca>Aca	p.P153T	ZNF782_ENST00000535338.1_Missense_Mutation_p.P21T|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P153T(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGACAGTGTGGGGCCATCAGG	0.433																																																	1	Substitution - Missense(1)	lung(1)											92	94	93					9																	99581848		2203	4300	6503	SO:0001583	missense	0			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"Zinc fingers, C2H2-type", "-"	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.457C>A	9.37:g.99581848G>T	ENSP00000419397:p.Pro153Thr		B2RNR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P153T	ENST00000481138.1	37	c.457	CCDS35075.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.15|12.15	1.851140|1.851140	0.32699|0.32699	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338;ENST00000478850	.|T;T;T	.|0.05649	.|3.53;3.41;5.87	3.38|3.38	0.0273|0.0273	0.14154|0.14154	.|.	0.839013|0.839013	0.09725|0.09725	N|N	0.763886|0.763886	T|T	0.04272|0.04272	0.0118|0.0118	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.34103	.|0.437	.|B	.|0.32864	.|0.154	T|T	0.46843|0.46843	-0.9162|-0.9162	6|10	.|0.19147	.|T	.|0.46	.|.	6.9443|6.9443	0.24510|0.24510	0.4049:0.0:0.5951:0.0|0.4049:0.0:0.5951:0.0	.|.	.|153	.|Q6ZMW2	.|ZN782_HUMAN	H|T	141|153;21;153	.|ENSP00000419397:P153T;ENSP00000440624:P21T;ENSP00000417577:P153T	.|ENSP00000417577:P153T	P|P	-|-	2|1	0|0	ZNF782|ZNF782	98621669|98621669	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.649000|0.649000	0.38597|0.38597	-0.293000|-0.293000	0.08320|0.08320	0.013000|0.013000	0.14918|0.14918	0.650000|0.650000	0.86243|0.86243	CCC|CCA	ZNF782	-	NULL	ENSG00000196597		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	-	0	89	0	G	NM_001001662		99581848	-1	tier1	-	no_errors	ENST00000481138	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.002	T	T	99581848	G	T	99581848	3	4	58	1	0	0	0	0	1	0	0	0	18203	1232	43	3	1646	3	ZNF782	9	99581848	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1372263	99581848	41631583	1114	15497											
TMOD1	7111	genome.wustl.edu	37	chr9	100353670	100353670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccactttacccagcaagGaccccggcttcgggcatcca	9	7	8	17	2	0	0	0	0	0	0	2	1	1	1	5	3	3	3	5	3	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:100353670G>T	ENST00000259365.4	+	9	1181	c.968G>T	c.(967-969)gGa>gTa	p.G323V	TMOD1_ENST00000375175.1_Missense_Mutation_p.G196V|TMOD1_ENST00000395211.2_Missense_Mutation_p.G323V	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	323					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCAGCAAGGACCCCGGCTT	0.507																																																	0													97	94	95					9																	100353670		2203	4300	6503	SO:0001583	missense	0				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.968G>T	9.37:g.100353670G>T	ENSP00000259365:p.Gly323Val		B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	pfam_Tropomodulin	p.G323V	ENST00000259365.4	37	c.968	CCDS6726.1	9	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671998	0.88348	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.93307	-3.2;-3.2;-3.2	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.97917	1.0312	10	0.87932	D	0	-24.3847	18.9948	0.92809	0.0:0.0:1.0:0.0	.	323	P28289	TMOD1_HUMAN	V	323;323;196	ENSP00000378637:G323V;ENSP00000259365:G323V;ENSP00000364318:G196V	ENSP00000259365:G323V	G	+	2	0	TMOD1	99393491	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.420000	0.97426	2.680000	0.91292	0.467000	0.42956	GGA	TMOD1	-	NULL	ENSG00000136842		0.507	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	-	0	55	0	G	NM_003275		100353670	1	tier1	-	no_errors	ENST00000259365	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	100353670	G	T	100353670	3	4	58	1	0	0	0	0	1	0	0	0	16280	1174	41	3	998	3	TMOD1	9	100353670	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	771822	100353670	40859761	1115	15498											
IKBKAP	8518	genome.wustl.edu	37	chr9	111660955	111660955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttagaaagttaccttaGggttatgatcataaatcaga	15	12	8	6	0	2	3	2	1	0	2	2	3	2	3	1	1	2	3	1	1	7	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:111660955G>T	ENST00000374647.5	-	21	2586	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H	IKBKAP_ENST00000537196.1_Missense_Mutation_p.P411H	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	760					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTTACCTTAGGGTTATGATC	0.333																																																	0													129	125	126					9																	111660955		2202	4300	6502	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2279C>A	9.37:g.111660955G>T	ENSP00000363779:p.Pro760His		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.P760H	ENST00000374647.5	37	c.2279	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126340	0.77549	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.31769	1.48;1.48	5.35	4.45	0.53987	.	0.105482	0.64402	D	0.000003	T	0.63827	0.2544	M	0.93720	3.45	0.46096	D	0.998868	D	0.89917	1.0	D	0.97110	1.0	T	0.72830	-0.4174	10	0.66056	D	0.02	-9.4563	12.0966	0.53758	0.084:0.0:0.916:0.0	.	760	O95163	ELP1_HUMAN	H	760;411	ENSP00000363779:P760H;ENSP00000439367:P411H	ENSP00000363779:P760H	P	-	2	0	IKBKAP	110700776	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.585000	0.98223	1.399000	0.46721	0.650000	0.86243	CCT	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.333	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0	51	0	G			111660955	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	T	T	111660955	G	T	111660955	3	4	58	1	0	0	0	0	1	0	0	0	7637	1000	35	3	1787	3	IKBKAP	9	111660955	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	11307285	111660955	29552476	1116	15499											
SVEP1	79987	genome.wustl.edu	37	chr9	113173449	113173449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcaggtgctcttctttTcccctttgatgtagaacccc	5	15	7	14	1	2	2	0	1	2	1	4	2	3	2	4	1	2	3	4	1	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:113173449T>C	ENST00000401783.2	-	37	6878	c.6542A>G	c.(6541-6543)gAa>gGa	p.E2181G	SVEP1_ENST00000297826.5_Missense_Mutation_p.E107G|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2158G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2181	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTCTTCTTTTCCCCTTTGAT	0.507																																																	0													120	126	124					9																	113173449		1971	4145	6116	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"chromosome 9 open reading frame 13"	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6542A>G	9.37:g.113173449T>C	ENSP00000384917:p.Glu2181Gly		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.E2181G	ENST00000401783.2	37	c.6542	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648890	0.87958	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64618	-0.11;-0.11;-0.11	6.08	6.08	0.98989	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	L	0.58925	1.835	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.71334	-0.4624	10	0.25751	T	0.34	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	2181	Q4LDE5	SVEP1_HUMAN	G	2181;2158;107	ENSP00000384917:E2181G;ENSP00000363593:E2158G;ENSP00000297826:E107G	ENSP00000297826:E107G	E	-	2	0	SVEP1	112213270	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.840000	0.86819	2.333000	0.79357	0.482000	0.46254	GAA	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0	84	0	T			113173449	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	28.57	50	20	SNP	1.000	C	C	113173449	T	C	113173449	3	2	58	1	0	0	0	0	1	0	0	0	15467	1783	62	4	4221	4	SVEP1	9	113173449	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1512494	113173449	28039982	1117	15500											
LPAR1	1902	genome.wustl.edu	37	chr9	113704388	113704388	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagatgctttccacttcGgttataaaagaaggcaatgg	13	10	11	7	1	0	2	0	0	0	2	2	2	1	2	1	4	1	4	1	4	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:113704388G>T	ENST00000374431.3	-	4	489	c.106C>A	c.(106-108)Cga>Aga	p.R36R	LPAR1_ENST00000541779.1_Silent_p.R37R|LPAR1_ENST00000538760.1_Silent_p.R37R|LPAR1_ENST00000374430.2_Silent_p.R36R|LPAR1_ENST00000358883.4_Silent_p.R36R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418																																					NSCLC(115;661 2323 9836 34256)												0													99	86	91					9																	113704388		2203	4300	6503	SO:0001819	synonymous_variant	0			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.106C>A	9.37:g.113704388G>T			B4DK36|O00656|O00722|P78351	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn	p.R37	ENST00000374431.3	37	c.109	CCDS6777.1	9																																																																																			LPAR1	-	NULL	ENSG00000198121		0.418	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	-	0	48	0	G	NM_057159		113704388	-1	tier1	-	no_errors	ENST00000538760	ensembl	human	known	74_37	silent	43.33	17	13	SNP	1.000	T	T	113704388	G	T	113704388	2	4	58	1	0	0	0	0	0	0	0	1	8939	1124	39	2		2	LPAR1	9	113704388	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	530939	113704388	27509043	1118	15501											
SUSD1	64420	genome.wustl.edu	37	chr9	114860860	114860860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatccaaacacactacaGgcacttgttccctcgttgtg	11	10	7	13	1	0	1	0	0	0	1	3	1	2	1	2	1	2	3	2	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:114860860G>T	ENST00000374270.3	-	10	1536	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	SUSD1_ENST00000374264.2_Missense_Mutation_p.P455H|SUSD1_ENST00000374263.3_Missense_Mutation_p.P455H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	455						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACACACTACAGGCACTTGTTC	0.443																																																	0													175	152	159					9																	114860860		2203	4300	6503	SO:0001583	missense	0			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1364C>A	9.37:g.114860860G>T	ENSP00000363388:p.Pro455His		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.P455H	ENST00000374270.3	37	c.1364	CCDS6783.1	9	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969581	0.34754	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.30981	1.51;1.51;1.51	5.14	4.24	0.50183	.	0.519208	0.16198	N	0.225047	T	0.50888	0.1642	M	0.77486	2.375	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.994	P;P;P	0.61592	0.874;0.891;0.751	T	0.43637	-0.9379	10	0.87932	D	0	-0.3445	9.5778	0.39468	0.0964:0.0:0.9036:0.0	.	455;455;455	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	H	455	ENSP00000363388:P455H;ENSP00000363381:P455H;ENSP00000363382:P455H	ENSP00000363381:P455H	P	-	2	0	SUSD1	113900681	0.010000	0.17322	0.001000	0.08648	0.003000	0.03518	1.780000	0.38634	1.179000	0.42884	0.655000	0.94253	CCT	SUSD1	-	NULL	ENSG00000106868		0.443	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	-	0	76	0	G	NM_022486		114860860	-1	tier1	-	no_errors	ENST00000374264	ensembl	human	known	74_37	missense	38.36	45	28	SNP	0.003	T	T	114860860	G	T	114860860	3	4	58	1	0	0	0	0	1	0	0	0	15454	1000	35	3	911	3	SUSD1	9	114860860	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1156472	114860860	26352571	1119	15502											
SLC46A2	57864	genome.wustl.edu	37	chr9	115652623	115652623	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggagagcaggaagcccagCagcgacatgcagatggagat	13	3	16	9	2	0	3	0	0	0	3	0	7	0	4	1	3	5	3	1	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:115652623C>T	ENST00000374228.4	-	1	570	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	113					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGAAGCCCAGCAGCGACATGC	0.657																																																	0													64	67	66					9																	115652623		2203	4298	6501	SO:0001819	synonymous_variant	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.339G>A	9.37:g.115652623C>T			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.L113	ENST00000374228.4	37	c.339	CCDS6786.1	9																																																																																			SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000119457		0.657	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1	-	0	25	0	C	NM_033051		115652623	-1	tier1	-	no_errors	ENST00000374228	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T	T	115652623	C	T	115652623	2	4	58	1	0	0	0	0	0	0	0	1	14690	697	25	3		3	SLC46A2	9	115652623	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	791763	115652623	25560808	1120	15503											
RGS3	5998	genome.wustl.edu	37	chr9	116276828	116276828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagaccatgaagggccacgGgaactaccaaaactgcccgg	13	3	12	13	2	0	2	0	1	0	1	0	3	0	3	4	3	4	1	4	3	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:116276828G>A	ENST00000374140.2	+	16	1777	c.1568G>A	c.(1567-1569)gGg>gAg	p.G523E	RGS3_ENST00000374136.1_Missense_Mutation_p.G149E|RGS3_ENST00000394646.3_Missense_Mutation_p.G242E|RGS3_ENST00000350696.5_Missense_Mutation_p.G523E|RGS3_ENST00000343817.5_Missense_Mutation_p.G242E|RGS3_ENST00000317613.6_Missense_Mutation_p.G411E	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	523					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGGGCCACGGGAACTACCAA	0.567																																																	0													130	99	109					9																	116276828		2203	4300	6503	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1568G>A	9.37:g.116276828G>A	ENSP00000363255:p.Gly523Glu		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G523E	ENST00000374140.2	37	c.1568	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	19.59	3.857072	0.71834	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.67698	0.61;0.61;1.01;0.13;-0.28	5.08	5.08	0.68730	.	0.121240	0.56097	D	0.000028	T	0.66528	0.2798	L	0.27053	0.805	0.80722	D	1	B;P;P;P;P;D	0.61080	0.244;0.876;0.852;0.862;0.9;0.989	B;P;P;P;P;P	0.54100	0.036;0.559;0.474;0.451;0.638;0.742	T	0.71441	-0.4592	10	0.87932	D	0	.	15.9876	0.80174	0.0:0.0:1.0:0.0	.	242;149;242;413;411;523	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	E	523;523;411;242;242;149	ENSP00000363255:G523E;ENSP00000259406:G523E;ENSP00000312844:G411E;ENSP00000340284:G242E;ENSP00000378141:G242E	ENSP00000312844:G411E	G	+	2	0	RGS3	115316649	0.989000	0.36119	0.290000	0.24890	0.976000	0.68499	2.301000	0.43628	2.503000	0.84419	0.561000	0.74099	GGG	RGS3	-	NULL	ENSG00000138835		0.567	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	-	0	30	0	G	NM_017790		116276828	1	tier1	-	no_errors	ENST00000350696	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.796	A	A	116276828	G	A	116276828	3	1	58	1	0	0	0	0	1	0	0	0	13351	1232	43	3	1767	3	RGS3	9	116276828	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	624205	116276828	24936603	1121	15504											
COL27A1	85301	genome.wustl.edu	37	chr9	116924994	116924994	+	Splice_Site	DEL	G	G	-																															cttgtgtctcctggtctctaGggggtttctcttctcctgga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:116924994delG	ENST00000356083.3	+	2	453		c.e2-1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGGTCTCTAGGGGGTTTCTC	0.582																																																	0													183	171	175					9																	116924994		2203	4300	6503	SO:0001630	splice_region_variant	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.63-1G>-	9.37:g.116924994delG			Q66K43|Q96JF7	Splice_Site	DEL	-	e2-1	ENST00000356083.3	37	c.63-1	CCDS6802.1	9																																																																																			COL27A1	-	-	ENSG00000196739		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1		0	15	0	G	NM_032888	Intron	116924994	1	tier1		no_errors	ENST00000356083	ensembl	human	known	74_37	splice_site_del	35.71	9	5	DEL	1.000	-	-	116924994	G	-	116924994	8	5	58	1	0	1	0	1	0	0	1	0	3692	1014	35	0	68	0	COL27A1	9	116924994	Splice_Site	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	648166	116924994	24288437	1122	15505											
AKNA	80709	genome.wustl.edu	37	chr9	117129899	117129899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtcctcagagatgtccCggttctccggaagccacccc	7	8	10	16	2	2	1	1	0	1	1	5	3	4	2	6	3	1	1	6	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:117129899C>T	ENST00000307564.4	-	6	1813	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	AKNA_ENST00000312033.3_Missense_Mutation_p.R551Q|AKNA_ENST00000374075.5_Missense_Mutation_p.R470Q|AKNA_ENST00000223791.3_Missense_Mutation_p.R11Q|AKNA_ENST00000374088.3_Missense_Mutation_p.R551Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	551					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGAGATGTCCCGGTTCTCCGG	0.612																																																	0													50	50	50					9																	117129899		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1652G>A	9.37:g.117129899C>T	ENSP00000303769:p.Arg551Gln		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.R551Q	ENST00000307564.4	37	c.1652	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	3.980	-0.006680	0.07773	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.27890	2.86;2.86;2.65;2.86;1.64	5.05	-0.831	0.10789	.	1.590530	0.03446	N	0.209940	T	0.11239	0.0274	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.0;0.001	T	0.14868	-1.0457	10	0.10902	T	0.67	-1.8185	1.2288	0.01939	0.1376:0.3106:0.1997:0.3521	.	551;470	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Q	551;392;551;11;470;551	ENSP00000303769:R551Q;ENSP00000363201:R551Q;ENSP00000223791:R11Q;ENSP00000363188:R470Q;ENSP00000309222:R551Q	ENSP00000223791:R11Q	R	-	2	0	AKNA	116169720	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.431000	0.06965	-0.029000	0.13827	-0.793000	0.03317	CGG	AKNA	-	NULL	ENSG00000106948		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0	29	0	C	NM_030767		117129899	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.000	T	T	117129899	C	T	117129899	3	4	58	1	0	0	0	0	1	0	0	0	463	652	23	1	2735	1	AKNA	9	117129899	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	204905	117129899	24083532	1123	15506											
TNC	3371	genome.wustl.edu	37	chr9	117848231	117848231	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcagtcactggggcaGgagtgctggccacagtccag	7	9	15	10	0	1	0	1	0	0	0	2	1	2	1	2	4	2	4	2	4	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:117848231G>T	ENST00000350763.4	-	3	2190	c.1779C>A	c.(1777-1779)tcC>tcA	p.S593S	TNC_ENST00000345230.3_Silent_p.S593S|TNC_ENST00000537320.1_Silent_p.S593S|TNC_ENST00000423613.2_Silent_p.S593S|TNC_ENST00000346706.3_Silent_p.S593S|TNC_ENST00000535648.1_Silent_p.S593S|TNC_ENST00000542877.1_Silent_p.S593S|TNC_ENST00000341037.4_Silent_p.S593S|TNC_ENST00000340094.3_Silent_p.S593S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	593	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTGGGGCAGGAGTGCTGGC	0.622																																																	0													71	57	61					9																	117848231		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1779C>A	9.37:g.117848231G>T			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.S593	ENST00000350763.4	37	c.1779	CCDS6811.1	9																																																																																			TNC	-	smart_EG-like_dom	ENSG00000041982		0.622	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	39	0	G	NM_002160		117848231	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.956	T	T	117848231	G	T	117848231	2	4	58	1	0	0	0	0	0	0	0	1	16317	987	35	3		3	TNC	9	117848231	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	718332	117848231	23365200	1124	15507											
TRIM32	22954	genome.wustl.edu	37	chr9	119461051	119461051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcacctgctaaacagCggggtcctgaggcagcctcc	7	6	13	15	1	1	1	1	1	0	0	3	1	3	1	5	4	4	2	5	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:119461051C>T	ENST00000450136.1	+	2	1191	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TRIM32_ENST00000373983.2_Missense_Mutation_p.R344W|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	344					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R344W(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCTAAACAGCGGGGTCCTGA	0.557																																					Esophageal Squamous(92;212 1916 19711 26951)												2	Substitution - Missense(2)	prostate(2)											47	52	50					9																	119461051		2203	4300	6503	SO:0001583	missense	0			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16380	protein-coding gene	gene with protein product		602290	"limb girdle muscular dystrophy 2H (autosomal recessive)", "tripartite motif-containing 32"	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1030C>T	9.37:g.119461051C>T	ENSP00000408292:p.Arg344Trp		Q9NQP8	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R344W	ENST00000450136.1	37	c.1030	CCDS6817.1	9	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146885	0.37923	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.83673	-1.75;-1.75	5.05	2.83	0.33086	.	0.248562	0.32002	N	0.006728	T	0.75295	0.3830	N	0.19112	0.55	0.39811	D	0.972707	D	0.62365	0.991	P	0.50378	0.639	T	0.73538	-0.3951	9	.	.	.	-12.7734	10.6704	0.45755	0.5435:0.4565:0.0:0.0	.	344	Q13049	TRI32_HUMAN	W	344	ENSP00000408292:R344W;ENSP00000363095:R344W	.	R	+	1	2	TRIM32	118500872	0.998000	0.40836	0.999000	0.59377	0.709000	0.40893	1.109000	0.31135	1.194000	0.43101	0.650000	0.86243	CGG	TRIM32	-	NULL	ENSG00000119401		0.557	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM32	HGNC	protein_coding	OTTHUMT00000055466.2	-	0	12	0	C	NM_012210		119461051	1	tier1	-	no_errors	ENST00000373983	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T	T	119461051	C	T	119461051	3	4	58	1	0	0	0	0	1	0	0	0	16554	759	27	1	1032	1	TRIM32	9	119461051	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1612820	119461051	21752380	1125	15508											
TLR4	7099	genome.wustl.edu	37	chr9	120476462	120476462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctactcaagccaggatgagGactgggtaaggaatgagcta	13	8	13	7	0	2	2	1	2	1	0	2	5	2	5	1	4	3	2	1	4	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:120476462G>T	ENST00000355622.6	+	3	2157	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	TLR4_ENST00000394487.4_Missense_Mutation_p.D646Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	686	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CCAGGATGAGGACTGGGTAAG	0.438																																																	0													109	100	103					9																	120476462		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2056G>T	9.37:g.120476462G>T	ENSP00000363089:p.Asp686Tyr		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D686Y	ENST00000355622.6	37	c.2056	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413039	0.62511	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.09255	3.0;3.0	6.03	5.13	0.70059	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.092388	0.52532	D	0.000079	T	0.23171	0.0560	L	0.42245	1.32	0.38097	D	0.937145	D	0.63880	0.993	D	0.70016	0.967	T	0.02668	-1.1126	10	0.52906	T	0.07	.	11.2224	0.48864	0.1389:0.0:0.8611:0.0	.	686	O00206	TLR4_HUMAN	Y	646;686	ENSP00000377997:D646Y;ENSP00000363089:D686Y	ENSP00000363089:D686Y	D	+	1	0	TLR4	119516283	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.996000	0.57009	1.558000	0.49541	0.655000	0.94253	GAC	TLR4	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000136869		0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0	66	0	G	NM_138554		120476462	1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	35.00	52	28	SNP	0.990	T	T	120476462	G	T	120476462	3	4	58	1	0	0	0	0	1	0	0	0	16000	1174	41	3	2066	3	TLR4	9	120476462	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1015411	120476462	20736969	1126	15509											
CEP110	11064	genome.wustl.edu	37	chr9	123935992	123935992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcactccgggagaaactgCgtcaccgggaagaccgactc	12	4	12	13	4	1	2	1	0	0	2	3	5	2	3	3	2	3	1	3	2	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:123935992C>T	ENST00000373855.1	+	42	6984	c.6724C>T	c.(6724-6726)Cgt>Tgt	p.R2242C	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2242C|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1690C			Q7Z7A1	CNTRL_HUMAN	centriolin	2242	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAGAAACTGCGTCACCGGGA	0.468																																																	0													132	140	137					9																	123935992		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6724C>T	9.37:g.123935992C>T	ENSP00000362962:p.Arg2242Cys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.R2242C	ENST00000373855.1	37	c.6724	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169303	0.78339	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.36157	1.46;1.46;1.27	6.03	5.13	0.70059	.	.	.	.	.	T	0.54159	0.1841	L	0.56769	1.78	0.44295	D	0.997161	D	0.89917	1.0	D	0.64410	0.925	T	0.57745	-0.7758	9	0.72032	D	0.01	.	14.2383	0.65941	0.0:0.9281:0.0:0.0719	.	2242	Q7Z7A1	CNTRL_HUMAN	C	2242;2242;2242;399;1690;924	ENSP00000362962:R2242C;ENSP00000238341:R2242C;ENSP00000362956:R1690C	ENSP00000238341:R2242C	R	+	1	0	CNTRL	122975813	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.208000	0.58486	1.558000	0.49541	0.655000	0.94253	CGT	CNTRL	-	NULL	ENSG00000119397		0.468	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	-	0	36	0	C	NM_007018		123935992	1	tier1	-	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	123935992	C	T	123935992	3	4	58	1	0	0	0	0	1	0	0	0	3252	768	27	1	6882	1	CEP110	9	123935992	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3459530	123935992	17277439	1127	15510											
DAB2IP	153090	genome.wustl.edu	37	chr9	124530759	124530759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgaaccagttcctagaGcatgagtggaccaacatgca	13	9	9	10	0	1	3	1	2	0	1	2	4	2	4	3	1	4	3	3	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:124530759G>T	ENST00000408936.3	+	10	1928	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	DAB2IP_ENST00000259371.2_Missense_Mutation_p.E554D|DAB2IP_ENST00000309989.1_Missense_Mutation_p.E458D			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	582					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTTCCTAGAGCATGAGTGGA	0.597																																																	0													146	128	134					9																	124530759		2203	4300	6503	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1746G>T	9.37:g.124530759G>T	ENSP00000386183:p.Glu582Asp		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E582D	ENST00000408936.3	37	c.1746		9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094371	0.76870	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.82	0.815	0.18763	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.70595	2.14	0.58432	D	0.99999	P;P	0.48640	0.674;0.913	P;P	0.57057	0.67;0.812	T	0.05468	-1.0883	10	0.87932	D	0	.	9.7377	0.40397	0.3629:0.0:0.6371:0.0	.	582;554	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	D	554;582;491;458	ENSP00000259371:E554D;ENSP00000386183:E582D;ENSP00000362887:E491D;ENSP00000310827:E458D	ENSP00000259371:E554D	E	+	3	2	DAB2IP	123570580	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.137000	0.31479	0.197000	0.20387	0.557000	0.71058	GAG	DAB2IP	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000136848		0.597	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0	45	0	G	NM_032552		124530759	1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	124530759	G	T	124530759	3	4	58	1	0	0	0	0	1	0	0	0	4228	962	34	3	1700	3	DAB2IP	9	124530759	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	594767	124530759	16682672	1128	15511											
PDCL	5082	genome.wustl.edu	37	chr9	125582521	125582521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagctggtcagtaacaCgaacaaaattgccgatcaat	14	7	7	13	2	2	0	2	0	0	0	2	2	2	0	3	1	4	2	3	1	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125582521C>T	ENST00000259467.4	-	4	914	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	250					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GTCAGTAACACGAACAAAATT	0.488																																																	0													83	80	81					9																	125582521		2203	4300	6503	SO:0001583	missense	0			AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.749G>A	9.37:g.125582521C>T	ENSP00000259467:p.Arg250His		Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin	p.R250H	ENST00000259467.4	37	c.749	CCDS6845.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629408	0.87660	.	.	ENSG00000136940	ENST00000259467	T	0.14022	2.54	5.66	5.66	0.87406	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	L	0.55017	1.72	0.80722	D	1	D	0.60160	0.987	P	0.52758	0.708	T	0.00077	-1.2116	10	0.41790	T	0.15	-10.6745	19.1131	0.93326	0.0:1.0:0.0:0.0	.	250	Q13371	PHLP_HUMAN	H	250	ENSP00000259467:R250H	ENSP00000259467:R250H	R	-	2	0	PDCL	124622342	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.770000	0.68873	2.832000	0.97577	0.655000	0.94253	CGT	PDCL	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	ENSG00000136940		0.488	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL	HGNC	protein_coding	OTTHUMT00000053956.1	-	0	23	0	C	NM_005388		125582521	-1	tier1	-	no_errors	ENST00000259467	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T	T	125582521	C	T	125582521	3	4	58	1	0	0	0	0	1	0	0	0	11665	536	19	1	160	1	PDCL	9	125582521	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1051762	125582521	15630910	1129	15512											
RC3H2	54542	genome.wustl.edu	37	chr9	125621075	125621075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgcatcacatccattGgaggtaaagaattgcttcta	13	12	9	7	0	2	2	1	1	1	1	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125621075G>T	ENST00000373670.1	-	11	2756	c.2156C>A	c.(2155-2157)cCa>cAa	p.P719Q	RC3H2_ENST00000423239.2_Missense_Mutation_p.P719Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.P719Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	719					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACATCCATTGGAGGTAAAGA	0.453																																																	0													131	127	128					9																	125621075		1910	4123	6033	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2156C>A	9.37:g.125621075G>T	ENSP00000362774:p.Pro719Gln		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.P719Q	ENST00000373670.1	37	c.2156	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739212	0.69304	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.50813	0.73;0.73;0.76	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.58787	-0.7575	10	0.56958	D	0.05	-18.9801	17.0106	0.86405	0.0:0.0:1.0:0.0	.	719;719	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	Q	719;719;590;719	ENSP00000362774:P719Q;ENSP00000349783:P719Q;ENSP00000411767:P719Q	ENSP00000349783:P719Q	P	-	2	0	RC3H2	124660896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.249000	0.65427	2.697000	0.92050	0.655000	0.94253	CCA	RC3H2	-	NULL	ENSG00000056586		0.453	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0	62	0	G	NM_018835		125621075	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	125621075	G	T	125621075	3	4	58	1	0	0	0	0	1	0	0	0	13212	1348	47	3	1537	3	RC3H2	9	125621075	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	38554	125621075	15592356	1130	15513											
RC3H2	54542	genome.wustl.edu	37	chr9	125621243	125621243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaattcattcgatctcgaGgggaaaatgtactgtaatga	15	11	10	5	2	2	2	1	1	1	1	4	5	2	3	0	2	1	2	0	2	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125621243G>T	ENST00000373670.1	-	11	2588	c.1988C>A	c.(1987-1989)cCt>cAt	p.P663H	RC3H2_ENST00000423239.2_Missense_Mutation_p.P663H|RC3H2_ENST00000357244.2_Missense_Mutation_p.P663H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	663	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGATCTCGAGGGGAAAATGT	0.522																																																	0													115	122	120					9																	125621243		2061	4202	6263	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1988C>A	9.37:g.125621243G>T	ENSP00000362774:p.Pro663His		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.P663H	ENST00000373670.1	37	c.1988	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903866	0.72754	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.50277	0.75;0.75;0.78	5.48	5.48	0.80851	.	0.108239	0.64402	D	0.000004	T	0.52725	0.1752	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.957	T	0.57323	-0.7831	10	0.49607	T	0.09	-14.9978	16.5001	0.84255	0.0:0.0:1.0:0.0	.	663;663	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	H	663;663;534;663	ENSP00000362774:P663H;ENSP00000349783:P663H;ENSP00000411767:P663H	ENSP00000349783:P663H	P	-	2	0	RC3H2	124661064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.111000	0.71541	2.565000	0.86533	0.561000	0.74099	CCT	RC3H2	-	NULL	ENSG00000056586		0.522	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0	55	0	G	NM_018835		125621243	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	125621243	G	T	125621243	3	4	58	1	0	0	0	0	1	0	0	0	13212	1000	35	3	1705	3	RC3H2	9	125621243	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	168	125621243	15592188	1131	15514											
RC3H2	54542	genome.wustl.edu	37	chr9	125659702	125659702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgaacaacctaaactGatgggtttgtgcacattctc	10	13	10	8	0	1	2	0	2	1	0	2	2	1	2	1	1	4	2	1	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125659702G>T	ENST00000373670.1	-	1	687	c.87C>A	c.(85-87)atC>atA	p.I29I	RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000373665.2_Silent_p.I29I|RC3H2_ENST00000335387.5_Silent_p.I29I|RC3H2_ENST00000423239.2_Silent_p.I29I|RC3H2_ENST00000357244.2_Silent_p.I29I|RC3H2_ENST00000471874.2_Silent_p.I29I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	29					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACCTAAACTGATGGGTTTGT	0.423																																																	0													105	99	101					9																	125659702		1918	4121	6039	SO:0001819	synonymous_variant	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"RING-type (C3HC4) zinc fingers", "Zinc fingers, CCCH-type domain containing"	21461	protein-coding gene	gene with protein product		615231	"membrane associated DNA binding protein", "ring finger and CCCH-type zinc finger domains 2"	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.87C>A	9.37:g.125659702G>T			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.I29	ENST00000373670.1	37	c.87	CCDS43874.1	9																																																																																			RC3H2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000056586		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0	51	0	G	NM_018835		125659702	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T	T	125659702	G	T	125659702	2	4	58	1	0	0	0	0	0	0	0	1	13212	1280	45	3		3	RC3H2	9	125659702	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	38459	125659702	15553729	1132	15515											
RABGAP1	23637	genome.wustl.edu	37	chr9	125865461	125865461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagctccataaagacagCaaccggggttcaagggaaag	15	5	12	9	1	1	2	1	1	0	1	2	3	2	3	2	3	3	3	2	3	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125865461C>T	ENST00000373647.4	+	26	3313	c.3179C>T	c.(3178-3180)gCa>gTa	p.A1060V	RABGAP1_ENST00000373643.5_Missense_Mutation_p.A399V	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1060					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATAAAGACAGCAACCGGGGTT	0.527											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													125	116	119					9																	125865461		2203	4300	6503	SO:0001583	missense	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"rab6 GTPase activating protein (GAP and centrosome-associated)", "TBC1 domain family, member 11"	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3179C>T	9.37:g.125865461C>T	ENSP00000362751:p.Ala1060Val	1545	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.A1060V	ENST00000373647.4	37	c.3179	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	C	12.67	2.009104	0.35415	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.14391	3.41;2.51	5.24	4.27	0.50696	.	0.075334	0.52532	D	0.000074	T	0.05044	0.0135	N	0.04063	-0.285	0.40179	D	0.977273	B	0.02656	0.0	B	0.04013	0.001	T	0.36890	-0.9729	10	0.09338	T	0.73	-23.939	7.7487	0.28883	0.0:0.8361:0.0:0.1639	.	1060	Q9Y3P9	RBGP1_HUMAN	V	1060;399	ENSP00000362751:A1060V;ENSP00000362747:A399V	ENSP00000362747:A399V	A	+	2	0	RABGAP1	124905282	1.000000	0.71417	0.809000	0.32408	0.997000	0.91878	3.745000	0.55119	2.723000	0.93209	0.655000	0.94253	GCA	RABGAP1	-	NULL	ENSG00000011454		0.527	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	-	0	67	0	C	NM_012197		125865461	1	tier1	-	no_errors	ENST00000373647	ensembl	human	known	74_37	missense	30.77	54	24	SNP	1.000	T	T	125865461	C	T	125865461	3	4	58	1	0	0	0	0	1	0	0	0	13009	710	25	3	3277	3	RABGAP1	9	125865461	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	205759	125865461	15347970	1133	15516											
MAPKAP1	79109	genome.wustl.edu	37	chr9	128347905	128347905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtcctgcaccctggcGctggccattgtcaccacggt	6	9	11	15	2	2	0	2	0	0	0	3	0	3	0	4	4	1	2	4	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:128347905G>A	ENST00000373498.1	-	4	668	c.600C>T	c.(598-600)agC>agT	p.S200S	MAPKAP1_ENST00000394060.3_Silent_p.S200S|MAPKAP1_ENST00000394063.1_Silent_p.S8S|MAPKAP1_ENST00000373497.5_Silent_p.S8S|MAPKAP1_ENST00000265960.3_Silent_p.S200S|MAPKAP1_ENST00000350766.3_Silent_p.S200S|MAPKAP1_ENST00000373503.3_Silent_p.S8S|MAPKAP1_ENST00000373511.2_Silent_p.S200S			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	200	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GCACCCTGGCGCTGGCCATTG	0.547																																																	0													162	116	131					9																	128347905		2203	4300	6503	SO:0001819	synonymous_variant	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.600C>T	9.37:g.128347905G>A			A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	pfam_SIN1	p.S200	ENST00000373498.1	37	c.600	CCDS35140.1	9																																																																																			MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.547	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	-	0	108	0	G			128347905	-1	tier1	-	no_errors	ENST00000265960	ensembl	human	known	74_37	silent	43.75	53	42	SNP	0.918	A	A	128347905	G	A	128347905	2	1	58	1	0	0	0	0	0	0	0	1	9326	1078	38	1		1	MAPKAP1	9	128347905	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2482444	128347905	12865526	1134	15517											
STXBP1	6812	genome.wustl.edu	37	chr9	130444703	130444703	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgcccgctatgggcactgGcataagaacaaggccccagg	11	4	13	13	2	0	1	0	0	0	1	0	1	0	1	3	4	2	3	3	4	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130444703G>A	ENST00000373299.1	+	18	1681	c.1566G>A	c.(1564-1566)tgG>tgA	p.W522*	STXBP1_ENST00000373302.3_Nonsense_Mutation_p.W522*|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	522					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ATGGGCACTGGCATAAGAACA	0.552																																																	0													49	52	51					9																	130444703		2203	4300	6503	SO:0001587	stop_gained	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"syntaxin-binding protein 1"	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1566G>A	9.37:g.130444703G>A	ENSP00000362396:p.Trp522*		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Nonsense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.W522*	ENST00000373299.1	37	c.1566	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.749644	0.98468	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4141	17.1696	0.86826	0.0:0.0:1.0:0.0	.	.	.	.	X	476;522;354;522	.	ENSP00000362396:W522X	W	+	3	0	STXBP1	129484524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.731000	0.98807	2.644000	0.89710	0.561000	0.74099	TGG	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136854		0.552	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	-	0	31	0	G	NM_003165		130444703	1	tier1	-	no_errors	ENST00000373299	ensembl	human	known	74_37	nonsense	48.39	16	15	SNP	1.000	A	A	130444703	G	A	130444703	4	1	58	1	0	0	0	0	0	1	0	0	15399	1212	42	3	1636	3	STXBP1	9	130444703	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2096798	130444703	10768728	1135	15518											
ST6GALNAC6	30815	genome.wustl.edu	37	chr9	130653132	130653132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcctcctcagcacgCggaacacactggaatgggcc	8	5	13	15	2	1	0	1	0	0	0	2	2	2	2	4	5	2	1	4	5	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130653132C>T	ENST00000373146.1	-	5	667	c.488G>A	c.(487-489)cGc>cAc	p.R163H	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R163H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R129H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R163H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R129H			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	163					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTCAGCACGCGGAACACACT	0.602																																																	0													77	72	74					9																	130653132		2203	4300	6503	SO:0001583	missense	0			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"Sialyltransferases"	23364	protein-coding gene	gene with protein product		610135	"sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.488G>A	9.37:g.130653132C>T	ENSP00000362239:p.Arg163His		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R163H	ENST00000373146.1	37	c.488	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844595	0.51164	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.61	4.72	0.59763	.	0.046728	0.85682	D	0.000000	T	0.37433	0.1003	M	0.78637	2.42	0.80722	D	1	B;B	0.28512	0.031;0.214	B;B	0.30316	0.037;0.114	T	0.24835	-1.0149	10	0.46703	T	0.11	-6.1471	13.1702	0.59593	0.0:0.9221:0.0:0.0779	.	129;163	Q969X2-2;Q969X2	.;SIA7F_HUMAN	H	163;129;163;129;163;129	ENSP00000362239:R163H;ENSP00000362234:R129H;ENSP00000362235:R163H;ENSP00000362237:R129H;ENSP00000291839:R163H;ENSP00000405326:R129H	ENSP00000291839:R163H	R	-	2	0	ST6GALNAC6	129692953	0.912000	0.30974	0.615000	0.29064	0.575000	0.36095	1.901000	0.39838	1.378000	0.46305	0.655000	0.94253	CGC	ST6GALNAC6	-	pfam_Glyco_trans_29	ENSG00000160408		0.602	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	-	0	48	0	C	NM_013443		130653132	-1	tier1	-	no_errors	ENST00000291839	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.998	T	T	130653132	C	T	130653132	3	4	58	1	0	0	0	0	1	0	0	0	15275	768	27	1	525	1	ST6GALNAC6	9	130653132	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	208429	130653132	10560299	1136	15519											
LCN2	3934	genome.wustl.edu	37	chr9	130914272	130914272	+	Frame_Shift_Del	DEL	A	A	-																															gttcttcaagaaagtttctcAaaacagggagtacttcaaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130914272delA	ENST00000373017.1	+	5	680	c.443delA	c.(442-444)caafs	p.Q148fs	LCN2_ENST00000372998.1_Frame_Shift_Del_p.Q150fs|LCN2_ENST00000540948.1_Frame_Shift_Del_p.Q148fs|LCN2_ENST00000373013.2_Frame_Shift_Del_p.Q150fs|LCN2_ENST00000277480.2_Frame_Shift_Del_p.Q148fs|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	148					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAGTTTCTCAAAACAGGGAG	0.552																																																	0													177	158	165					9																	130914272		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"Lipocalins"	6526	protein-coding gene	gene with protein product	"oncogene 24p3", "neutrophil gelatinase-associated lipocalin", "siderocalin"	600181	"lipocalin 2 (oncogene 24p3)"			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.443delA	9.37:g.130914272delA	ENSP00000362108:p.Gln148fs		A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Frame_Shift_Del	DEL	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln	p.N151fs	ENST00000373017.1	37	c.449	CCDS6892.1	9																																																																																			LCN2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000148346		0.552	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LCN2	HGNC	protein_coding	OTTHUMT00000054375.1		0	23	0	A	NM_005564		130914272	1	tier1		no_errors	ENST00000372998	ensembl	human	known	74_37	frame_shift_del	35.48	20	11	DEL	0.000	-	-	130914272	A	-	130914272	7	5	58	1	0	1	0	1	0	0	0	0	8712	130	5	0	457	0	LCN2	9	130914272	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	261140	130914272	10299159	1137	15520											
C9orf16	79095	genome.wustl.edu	37	chr9	130925726	130925726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccttcctcccagaataCgctgccatcaactccatgct	8	11	5	17	2	1	1	1	0	0	1	5	1	4	1	5	0	4	2	5	0	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130925726C>T	ENST00000372994.1	+	2	232	c.84C>T	c.(82-84)taC>taT	p.Y28Y	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	28										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		TCCCAGAATACGCTGCCATCA	0.587																																																	0													70	67	68					9																	130925726		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.84C>T	9.37:g.130925726C>T			Q5SYV8|Q9Y3F7	Silent	SNP	pfam_UPF0184	p.Y28	ENST00000372994.1	37	c.84	CCDS6893.1	9																																																																																			C9orf16	-	pfam_UPF0184	ENSG00000171159		0.587	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf16	HGNC	protein_coding	OTTHUMT00000054351.1	-	0	47	0	C	NM_024112		130925726	1	tier1	-	no_errors	ENST00000372994	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.993	T	T	130925726	C	T	130925726	2	4	58	1	0	0	0	0	0	0	0	1	2473	547	19	1		1	C9orf16	9	130925726	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	11454	130925726	10287705	1138	15521											
DNM1	1759	genome.wustl.edu	37	chr9	131013112	131013112	+	Frame_Shift_Del	DEL	G	G	-																															ccgcctgctgggtccgccctGgggggggcgccccccgtgcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:131013112delG	ENST00000372923.3	+	21	2519	c.2427delG	c.(2425-2427)ctgfs	p.L809fs	DNM1_ENST00000393594.3_Frame_Shift_Del_p.L809fs|DNM1_ENST00000475805.1_Frame_Shift_Del_p.L809fs|DNM1_ENST00000486160.1_Frame_Shift_Del_p.L809fs|DNM1_ENST00000341179.7_Frame_Shift_Del_p.L809fs	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	809				L -> M (in Ref. 3; AAH50279). {ECO:0000305}.	endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTCCGCCCTGGGGGGGGCGC	0.836																																					GBM(113;146 1575 2722 28670 29921)												0													1	1	1					9																	131013112		496	970	1466	SO:0001589	frameshift_variant	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2427delG	9.37:g.131013112delG	ENSP00000362014:p.Leu809fs		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Frame_Shift_Del	DEL	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.A812fs	ENST00000372923.3	37	c.2427	CCDS6895.1	9																																																																																			DNM1	-	NULL	ENSG00000106976		0.836	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1		0	10	0	G	NM_004408		131013112	1			no_errors	ENST00000372923	ensembl	human	known	74_37	frame_shift_del	30.00	7	3	DEL	1.000	0	-	131013112	G	-	131013112	7	5	58	1	0	1	0	1	0	0	0	0	4684	1335	47	0	2504	0	DNM1	9	131013112	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	87386	131013112	10200319	1139	15522											
DNM1	1759	genome.wustl.edu	37	chr9	131016963	131016963	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaagtccatcccgtccTgagagccccaggcccccctt	7	6	9	19	1	0	1	0	1	0	1	3	2	3	1	8	2	1	1	8	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:131016963T>C	ENST00000372923.3	+	22	2657	c.2565T>C	c.(2563-2565)ccT>ccC	p.P855P	DNM1_ENST00000393594.3_3'UTR|DNM1_ENST00000486160.1_Silent_p.P855P|DNM1_ENST00000341179.7_3'UTR	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	855					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CATCCCGTCCTGAGAGCCCCA	0.587																																					GBM(113;146 1575 2722 28670 29921)												0													71	79	76					9																	131016963		1376	2357	3733	SO:0001819	synonymous_variant	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"Pleckstrin homology (PH) domain containing"	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2565T>C	9.37:g.131016963T>C			A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.P855	ENST00000372923.3	37	c.2565	CCDS6895.1	9																																																																																			DNM1	-	NULL	ENSG00000106976		0.587	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	-	0	58	0	T	NM_004408		131016963	1	tier1	-	no_errors	ENST00000372923	ensembl	human	known	74_37	silent	35.29	44	24	SNP	1.000	C	C	131016963	T	C	131016963	2	2	58	1	0	0	0	0	0	0	0	1	4684	1567	55	4		4	DNM1	9	131016963	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3851	131016963	10196468	1140	15523											
LAMC3	10319	genome.wustl.edu	37	chr9	133936593	133936594	+	Frame_Shift_Ins	INS	-	-	C																															gaggtggtgtgtacccactgINSccccccgggccagagaggta																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:133936593_133936594insC	ENST00000361069.4	+	13	2463_2464	c.2330_2331insC	c.(2329-2334)tgccccfs	p.CP777fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	777	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTACCCACTGCCCCCCGGGCC	0.698																																																	0																																										SO:0001589	frameshift_variant	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2336dupC	9.37:g.133936599_133936599dupC	ENSP00000354360:p.Cys777fs		B1APX9|B1APY0|Q59H72	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G781fs	ENST00000361069.4	37	c.2330_2331	CCDS6938.1	9																																																																																			LAMC3	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin	ENSG00000050555		0.698	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3		0	47	0	-	NM_006059		133936594	1	tier1		no_errors	ENST00000361069	ensembl	human	known	74_37	frame_shift_ins	29.63	19	8	INS	1.000:1.000	C	C	133936594	-	C	133936593	7	5	58	1	0	1	1	0	0	0	0	0	8644	1319	46	0	2380	0	LAMC3	9	133936593	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	2919630	133936593	7276838	1141	15524											
LAMC3	10319	genome.wustl.edu	37	chr9	133946903	133946903	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccagactgactttgacGgaggggtggctccaagggtc	9	7	16	9	1	0	3	0	2	0	1	2	4	1	4	2	6	0	1	2	6	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:133946903G>T	ENST00000361069.4	+	18	3235	c.3102G>T	c.(3100-3102)acG>acT	p.T1034T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1034	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGACTTTGACGGAGGGGTGGC	0.622																																																	0													96	85	89					9																	133946903		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"Laminins"	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3102G>T	9.37:g.133946903G>T			B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.T1034	ENST00000361069.4	37	c.3102	CCDS6938.1	9																																																																																			LAMC3	-	NULL	ENSG00000050555		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	-	0	74	0	G	NM_006059		133946903	1	tier1	-	no_errors	ENST00000361069	ensembl	human	known	74_37	silent	32.31	44	21	SNP	1.000	T	T	133946903	G	T	133946903	2	4	58	1	0	0	0	0	0	0	0	1	8644	1103	39	2		2	LAMC3	9	133946903	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	10310	133946903	7266528	1142	15525											
NUP214	8021	genome.wustl.edu	37	chr9	134072693	134072693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgaggccattcctgaaaGctcacctccctcaggaatca	11	10	7	13	0	3	2	3	2	0	0	5	3	5	3	4	2	1	1	4	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:134072693G>T	ENST00000359428.5	+	29	3956	c.3812G>T	c.(3811-3813)aGc>aTc	p.S1271I	NUP214_ENST00000411637.2_Missense_Mutation_p.S1261I|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Missense_Mutation_p.S97I|NUP214_ENST00000451030.1_Missense_Mutation_p.S1272I			P35658	NU214_HUMAN	nucleoporin 214kDa	1271	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATTCCTGAAAGCTCACCTCCC	0.547			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													105	98	100					9																	134072693		2203	4300	6503	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3812G>T	9.37:g.134072693G>T	ENSP00000352400:p.Ser1271Ile		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.S1272I	ENST00000359428.5	37	c.3815	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414604	0.62511	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.54479	1.4;1.4;1.4;0.64;0.57	5.68	3.83	0.44106	.	0.300731	0.24611	N	0.037042	T	0.45816	0.1361	N	0.08118	0	0.09310	N	1	D;D;D;D;D	0.71674	0.993;0.998;0.958;0.98;0.958	P;D;P;P;P	0.64877	0.804;0.93;0.748;0.804;0.748	T	0.25117	-1.0141	10	0.41790	T	0.15	-7.6073	7.1	0.25332	0.1613:0.1426:0.6961:0.0	.	97;700;865;1261;1271	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	I	1271;1261;1272;1250;865;700;97;48;48	ENSP00000352400:S1271I;ENSP00000396576:S1261I;ENSP00000405014:S1272I;ENSP00000436793:S97I;ENSP00000435364:S48I	ENSP00000352400:S1271I	S	+	2	0	NUP214	133062514	0.450000	0.25697	0.063000	0.19743	0.188000	0.23474	2.770000	0.47662	0.740000	0.32651	0.563000	0.77884	AGC	NUP214	-	NULL	ENSG00000126883		0.547	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2		0	62	0	G	NM_005085		134072693	1			no_errors	ENST00000451030	ensembl	human	known	74_37	missense	6.25	59	4	SNP	0.019	T	T	134072693	G	T	134072693	3	4	58	1	0	0	0	0	1	0	0	0	10801	971	34	3	3926	3	NUP214	9	134072693	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	125790	134072693	7140738	1143	15526											
RAPGEF1	2889	genome.wustl.edu	37	chr9	134464198	134464198	+	Frame_Shift_Del	DEL	C	C	-																															ggcttctcacctggctgctaCcccccgggctgccaggggct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:134464198delC	ENST00000372189.3	-	17	2608	c.2485delG	c.(2485-2487)gtafs	p.V829fs	RAPGEF1_ENST00000372190.3_Frame_Shift_Del_p.V847fs|RAPGEF1_ENST00000372195.1_Frame_Shift_Del_p.V846fs	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	829					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGGCTGCTACCCCCCGGGCT	0.657																																																	0													21	25	24					9																	134464198		2016	4171	6187	SO:0001589	frameshift_variant	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2485delG	9.37:g.134464198delC	ENSP00000361263:p.Val829fs		Q5JUE4|Q8IV73	Frame_Shift_Del	DEL	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V847fs	ENST00000372189.3	37	c.2539	CCDS48047.1	9																																																																																			RAPGEF1	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N	ENSG00000107263		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2		0	162	0	C	NM_005312		134464198	-1	tier1		no_errors	ENST00000372190	ensembl	human	known	74_37	frame_shift_del	44.95	60	49	DEL	0.997	-	-	134464198	C	-	134464198	7	5	58	1	0	1	0	1	0	0	0	0	13088	507	18	0	780	0	RAPGEF1	9	134464198	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	391505	134464198	6749233	1144	15527											
RAPGEF1	2889	genome.wustl.edu	37	chr9	134504583	134504583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagttgactgtgacaTcccagtcgtcttgtttagga	8	13	11	9	1	2	2	1	2	1	0	4	4	3	3	1	1	1	3	1	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:134504583T>C	ENST00000372189.3	-	7	871	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.M268V|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.M267V|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	250					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GACTGTGACATCCCAGTCGTC	0.552																																																	0													110	115	113					9																	134504583		1962	4138	6100	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.748A>G	9.37:g.134504583T>C	ENSP00000361263:p.Met250Val		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.M268V	ENST00000372189.3	37	c.802	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.273304	0.00257	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.36699	1.24;1.24;1.24	5.56	-3.52	0.04682	.	3.222360	0.00559	N	0.000269	T	0.21387	0.0515	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.31503	-0.9941	10	0.02654	T	1	.	7.7168	0.28708	0.0:0.1436:0.4592:0.3972	.	267;250;268	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	V	250;267;144;250;268;230;176;267	ENSP00000361269:M267V;ENSP00000361263:M250V;ENSP00000361264:M268V	ENSP00000266110:M250V	M	-	1	0	RAPGEF1	133494404	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.304000	0.08199	-0.953000	0.03645	-0.408000	0.06270	ATG	RAPGEF1	-	NULL	ENSG00000107263		0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	-	0	120	0	T	NM_005312		134504583	-1	tier1	-	no_errors	ENST00000372190	ensembl	human	known	74_37	missense	28.57	80	32	SNP	0.008	C	C	134504583	T	C	134504583	3	2	58	1	0	0	0	0	1	0	0	0	13088	1435	50	4	2557	4	RAPGEF1	9	134504583	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	40385	134504583	6708848	1145	15528											
TSC1	7248	genome.wustl.edu	37	chr9	135779102	135779102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaggagccgcctgttcCggagggcatgctgctgcctc	4	8	16	13	3	0	0	0	0	0	0	2	3	1	3	4	4	5	4	4	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:135779102C>T	ENST00000298552.3	-	17	2365	c.2144G>A	c.(2143-2145)cGg>cAg	p.R715Q	TSC1_ENST00000440111.2_Missense_Mutation_p.R715Q|TSC1_ENST00000545250.1_Missense_Mutation_p.R664Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	715					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCGCCTGTTCCGGAGGGCATG	0.552			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											72	71	71					9																	135779102		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2144G>A	9.37:g.135779102C>T	ENSP00000298552:p.Arg715Gln		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.R715Q	ENST00000298552.3	37	c.2144	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.155851	0.94686	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.89810	-2.57;-2.57;-2.57	5.2	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93004	0.6426	10	0.48119	T	0.1	-17.7425	13.2358	0.59969	0.0:0.9214:0.0:0.0786	.	664;715	B7Z897;Q92574	.;TSC1_HUMAN	Q	715;715;664	ENSP00000298552:R715Q;ENSP00000394524:R715Q;ENSP00000444017:R664Q	ENSP00000298552:R715Q	R	-	2	0	TSC1	134768923	1.000000	0.71417	0.786000	0.31890	0.912000	0.54170	6.084000	0.71335	2.419000	0.82065	0.557000	0.71058	CGG	TSC1	-	pfam_Hamartin	ENSG00000165699		0.552	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0	47	0	C			135779102	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	T	T	135779102	C	T	135779102	3	4	58	1	0	0	0	0	1	0	0	0	16653	652	23	1	1378	1	TSC1	9	135779102	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1274519	135779102	5434329	1146	15529											
DBH	1621	genome.wustl.edu	37	chr9	136507451	136507451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgaagcccaatatcccCgaaccggagttgccctcaga	10	7	8	16	2	1	2	1	1	0	1	3	4	3	3	6	1	3	1	6	1	4	2	rs542369046		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:136507451C>T	ENST00000393056.2	+	3	621	c.609C>T	c.(607-609)ccC>ccT	p.P203P		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	203					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCAATATCCCCGAACCGGAGT	0.617																																																	0													61	58	59					9																	136507451		2203	4300	6503	SO:0001819	synonymous_variant	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.609C>T	9.37:g.136507451C>T			Q5T381|Q96AG2	Silent	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.P203	ENST00000393056.2	37	c.609	CCDS6977.2	9																																																																																			DBH	-	superfamily_PHM/PNGase_F_dom	ENSG00000123454		0.617	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	-	0	85	0	C	NM_000787		136507451	1	tier1	-	no_errors	ENST00000393056	ensembl	human	known	74_37	silent	44.16	43	34	SNP	0.007	T	T	136507451	C	T	136507451	2	4	58	1	0	0	0	0	0	0	0	1	4259	639	23	1		1	DBH	9	136507451	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	728349	136507451	4705980	1147	15530											
BRD3	8019	genome.wustl.edu	37	chr9	136915646	136915646	+	Frame_Shift_Del	DEL	G	G	-																															acgggcgtctgggagacggtGgggggcacgctctgaaaggg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:136915646delG	ENST00000303407.7	-	5	749	c.564delC	c.(562-564)cccfs	p.P188fs	BRD3_ENST00000371834.2_Frame_Shift_Del_p.P188fs|BRD3_ENST00000357885.2_Frame_Shift_Del_p.P188fs	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	188					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGAGACGGTGGGGGGCACGC	0.642			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													51	62	58					9																	136915646		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.564delC	9.37:g.136915646delG	ENSP00000305918:p.Pro188fs		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Frame_Shift_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.T189fs	ENST00000303407.7	37	c.564	CCDS6980.1	9																																																																																			BRD3	-	NULL	ENSG00000169925		0.642	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4		0	58	0	G	NM_007371		136915646	-1	tier1		no_errors	ENST00000303407	ensembl	human	known	74_37	frame_shift_del	32.65	33	16	DEL	0.954	-	-	136915646	G	-	136915646	7	5	58	1	0	1	0	1	0	0	0	0	1507	1335	47	0	1648	0	BRD3	9	136915646	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	408195	136915646	4297785	1148	15531											
KIAA0649	9858	genome.wustl.edu	37	chr9	138378164	138378164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaggtggtggccatgtgaGgccatccacgcccaagaaaa	12	6	13	10	1	0	3	0	1	0	2	1	3	1	3	4	4	0	0	4	4	4	1	rs35693729	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:138378164G>T	ENST00000356818.2	+	4	2357	c.1808G>T	c.(1807-1809)aGg>aTg	p.R603M	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R603M|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R603M|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R603M|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R603M	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	603					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGCCATGTGAGGCCATCCACG	0.617																																																	0													45	49	48					9																	138378164		2203	4300	6503	SO:0001583	missense	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1808G>T	9.37:g.138378164G>T	ENSP00000349274:p.Arg603Met		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.R603M	ENST00000356818.2	37	c.1808	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094383	0.36952	.	.	ENSG00000196422	ENST00000356818	T	0.21932	1.98	5.18	-3.47	0.04753	.	0.941325	0.08841	N	0.885800	T	0.07188	0.0182	N	0.03608	-0.345	0.09310	N	1	P	0.34587	0.458	B	0.35039	0.194	T	0.24404	-1.0161	10	0.42905	T	0.14	-1.6491	2.4297	0.04468	0.473:0.1195:0.2883:0.1193	.	603	Q5T8A7	PPR26_HUMAN	M	603	ENSP00000349274:R603M	ENSP00000349274:R603M	R	+	2	0	KIAA0649	137517985	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	0.428000	0.21395	-0.696000	0.05098	0.561000	0.74099	AGG	PPP1R26	-	NULL	ENSG00000196422		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0	34	0	G	NM_014811		138378164	1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	missense	46.67	16	14	SNP	0.000	T	T	138378164	G	T	138378164	3	4	58	1	0	0	0	0	1	0	0	0	8214	1000	35	3	1810	3	KIAA0649	9	138378164	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1462518	138378164	2835267	1149	15532											
KIAA0649	9858	genome.wustl.edu	37	chr9	138379511	138379511	+	Frame_Shift_Del	DEL	G	G	-																															aggcagagatgcagtgtggaGggggggcgtcgggagcgaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:138379511delG	ENST00000356818.2	+	4	3704	c.3155delG	c.(3154-3156)aggfs	p.R1052fs	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R1052fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R1052fs|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R1052fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R1052fs	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1052					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCAGTGTGGAGGGGGGGCGTC	0.741																																																	0										3,3407		1,1,1703	3	4	3			3.6	0.5	9		3	16,6902		1,14,3444	no	frameshift	KIAA0649	NM_014811.3		2,15,5147	A1A1,A1R,RR		0.2313,0.088,0.184			138379511	19,10309	1875	3768	5643	SO:0001589	frameshift_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3155delG	9.37:g.138379511delG	ENSP00000349274:p.Arg1052fs		Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	NULL	p.G1054fs	ENST00000356818.2	37	c.3155	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.741	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1		0	15	0	G	NM_014811		138379511	1	tier1		no_errors	ENST00000356818	ensembl	human	known	74_37	frame_shift_del	29.41	12	5	DEL	0.000	-	-	138379511	G	-	138379511	7	5	58	1	0	1	0	1	0	0	0	0	8214	1000	35	0	3157	0	KIAA0649	9	138379511	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	1347	138379511	2833920	1150	15533											
KCNT1	402381	genome.wustl.edu	37	chr9	138594199	138594199	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccttcgagtttgacgacgGccaatgcgcccccaggtaca	9	7	11	14	4	0	1	0	1	0	0	1	4	0	1	4	2	2	2	4	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:138594199G>A	ENST00000298466.5	-	0	0				KCNT1_ENST00000487664.1_Missense_Mutation_p.G32D|KCNT1_ENST00000298480.5_Missense_Mutation_p.G32D|SOHLH1_ENST00000425225.1_5'Flank|KCNT1_ENST00000371757.2_Missense_Mutation_p.G32D	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TTTGACGACGGCCAATGCGCC	0.731																																																	0													23	27	26					9																	138594199		2201	4296	6497	SO:0001631	upstream_gene_variant	0			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915		9.37:g.138594199G>A	Exception_encountered		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.G32D	ENST00000298466.5	37	c.95	CCDS35174.1	9	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053561	0.19907	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757	T;T;T	0.31510	1.84;1.49;1.49	2.28	2.28	0.28536	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.31908	N	0.615086	P;B	0.38827	0.649;0.0	B;B	0.40329	0.326;0.0	T	0.15206	-1.0445	9	0.62326	D	0.03	.	8.1535	0.31154	0.0:0.0:1.0:0.0	.	32;32	B9EGP2;G5E9V0	.;.	D	32	ENSP00000417851:G32D;ENSP00000298480:G32D;ENSP00000360822:G32D	ENSP00000298480:G32D	G	+	2	0	KCNT1	137734020	0.069000	0.21087	0.256000	0.24389	0.004000	0.04260	1.598000	0.36740	1.574000	0.49760	0.650000	0.86243	GGC	KCNT1	-	NULL	ENSG00000107147		0.731	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNT1	HGNC	protein_coding	OTTHUMT00000055018.2	-	0	17	0	G	NM_001012415		138594199	1	tier1	-	no_errors	ENST00000298480	ensembl	human	known	74_37	missense	66.67	4	8	SNP	0.288	A	A	138594199	G	A	138594199	1	1	58	0	1	0	0	0	0	0	0	0	8118	1203	42	3		3	KCNT1	9	138594199	5'Flank	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	214688	138594199	2619232	1151	15534											
DNLZ	728489	genome.wustl.edu	37	chr9	139257455	139257455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcacctcttcccattcagGtccgagaaccagcccaggtt	8	9	7	17	1	3	1	2	0	1	1	5	2	5	1	6	2	2	1	6	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139257455G>T	ENST00000371738.3	-	2	428	c.354C>A	c.(352-354)gaC>gaA	p.D118E	DNLZ_ENST00000371739.3_Intron|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	118						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		TCCCATTCAGGTCCGAGAACC	0.612																																																	0													112	94	100					9																	139257455		2203	4300	6503	SO:0001583	missense	0			AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"Zinc fingers"	33879	protein-coding gene	gene with protein product	"translocase of inner mitochondrial membrane 15 homolog (yeast)", "HSP70 escort protein"		"chromosome 9 open reading frame 151"	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.354C>A	9.37:g.139257455G>T	ENSP00000360803:p.Asp118Glu		B2RUX5|B9EJE1	Missense_Mutation	SNP	pfam_Znf_DNL-typ	p.D118E	ENST00000371738.3	37	c.354	CCDS35179.1	9	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365480	0.41902	.	.	ENSG00000213221	ENST00000371738	T	0.35048	1.33	5.06	2.2	0.27929	Zinc finger, DNL-type (2);	0.000000	0.85682	U	0.000000	T	0.41166	0.1147	L	0.52266	1.64	0.80722	D	1	P	0.38223	0.623	P	0.53549	0.729	T	0.19844	-1.0293	10	0.09338	T	0.73	-28.7575	8.9807	0.35964	0.2432:0.0:0.7568:0.0	.	118	Q5SXM8	DNLZ_HUMAN	E	118	ENSP00000360803:D118E	ENSP00000360803:D118E	D	-	3	2	DNLZ	138377276	1.000000	0.71417	0.994000	0.49952	0.113000	0.19764	1.103000	0.31062	0.533000	0.28675	0.462000	0.41574	GAC	DNLZ	-	pfam_Znf_DNL-typ	ENSG00000213221		0.612	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNLZ	HGNC	protein_coding	OTTHUMT00000055075.2	-	0	74	0	G	NM_001080849		139257455	-1	tier1	-	no_errors	ENST00000371738	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	139257455	G	T	139257455	3	4	58	1	0	0	0	0	1	0	0	0	4683	1252	44	3	190	3	DNLZ	9	139257455	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	663256	139257455	1955976	1152	15535											
CARD9	64170	genome.wustl.edu	37	chr9	139264771	139264771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcgggcctcgccctggCggaggtccttgcgcagggag	3	6	19	13	5	0	0	0	0	0	0	3	2	1	2	3	6	1	1	3	6	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139264771C>T	ENST00000371732.5	-	6	1091	c.926G>A	c.(925-927)cGc>cAc	p.R309H	CARD9_ENST00000371734.3_Missense_Mutation_p.R309H|CARD9_ENST00000315908.7_Missense_Mutation_p.R309H|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	309					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTCGCCCTGGCGGAGGTCCTT	0.706																																																	0													30	34	33					9																	139264771		2192	4296	6488	SO:0001583	missense	0			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.926G>A	9.37:g.139264771C>T	ENSP00000360797:p.Arg309His		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.R309H	ENST00000371732.5	37	c.926	CCDS6997.1	9	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729383	0.48833	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.34667	1.35;1.35;1.35	4.11	4.11	0.48088	.	0.068325	0.56097	D	0.000038	T	0.26304	0.0642	L	0.44542	1.39	0.43729	D	0.996215	B;P;P	0.37500	0.371;0.597;0.462	B;B;B	0.28849	0.095;0.082;0.037	T	0.09207	-1.0685	10	0.42905	T	0.14	-27.2027	11.1937	0.48700	0.0:0.9061:0.0:0.0939	.	205;309;309	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	H	309	ENSP00000360799:R309H;ENSP00000360797:R309H;ENSP00000323719:R309H	ENSP00000323719:R309H	R	-	2	0	CARD9	138384592	0.447000	0.25673	1.000000	0.80357	0.985000	0.73830	1.704000	0.37857	2.124000	0.65301	0.462000	0.41574	CGC	CARD9	-	NULL	ENSG00000187796		0.706	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD9	HGNC	protein_coding	OTTHUMT00000055053.1	-	0	51	0	C	NM_052813		139264771	-1	tier1	-	no_errors	ENST00000371732	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.997	T	T	139264771	C	T	139264771	3	4	58	1	0	0	0	0	1	0	0	0	2659	768	27	1	769	1	CARD9	9	139264771	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	7316	139264771	1948660	1153	15536											
SNAPC4	6621	genome.wustl.edu	37	chr9	139278451	139278452	+	Frame_Shift_Ins	INS	-	-	G																															acactgggagccagaccgatINSggggcagctcagaagctatt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139278451_139278452insG	ENST00000298532.2	-	14	1821_1822	c.1453_1454insC	c.(1453-1455)catfs	p.H485fs		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCCAGACCGATGGGGCAGCTCA	0.525																																																	0																																										SO:0001589	frameshift_variant	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1454dupC	9.37:g.139278455_139278455dupG	ENSP00000298532:p.His485fs			Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H485fs	ENST00000298532.2	37	c.1454_1453	CCDS6998.1	9																																																																																			SNAPC4	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000165684		0.525	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1		0	53	0	-	NM_003086		139278452	-1	tier1		no_errors	ENST00000298532	ensembl	human	known	74_37	frame_shift_ins	25.00	42	14	INS	1.000:1.000	G	G	139278452	-	G	139278451	7	5	58	1	0	1	1	0	0	0	0	0	14882	1464	51	0	2991	0	SNAPC4	9	139278451	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	13680	139278451	1934980	1154	15537											
MAMDC4	158056	genome.wustl.edu	37	chr9	139753253	139753253	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgagcctctgccggccacCccagcctcctgcctccgctt	4	7	9	21	3	1	0	0	0	1	0	3	1	3	0	9	1	5	1	9	1	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139753253C>A	ENST00000317446.2	+	23	2954	c.2904C>A	c.(2902-2904)acC>acA	p.T968T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.T1047T	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCCGGCCACCCCAGCCTCCT	0.682																																																	0													15	18	17					9																	139753253		2187	4289	6476	SO:0001819	synonymous_variant	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2904C>A	9.37:g.139753253C>A				Silent	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.T1047	ENST00000317446.2	37	c.3141	CCDS7010.1	9	.	.	.	.	.	.	.	.	.	.	.	3.318	-0.139265	0.06669	.	.	ENSG00000177943	ENST00000413647	.	.	.	5.05	-4.97	0.03029	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.24316	N	0.995067	.	.	.	.	.	.	T	0.28427	-1.0044	4	.	.	.	-34.3167	3.7363	0.08511	0.1003:0.4249:0.099:0.3759	.	.	.	.	T	1033	.	.	P	+	1	0	MAMDC4	138873074	0.000000	0.05858	0.001000	0.08648	0.356000	0.29392	-2.578000	0.00908	-0.925000	0.03775	0.561000	0.74099	CCC	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.682	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3	-	0	10	0	C	NM_206920		139753253	1	tier1	-	no_errors	ENST00000445819	ensembl	human	known	74_37	silent	50.00	6	6	SNP	0.001	A	A	139753253	C	A	139753253	2	1	58	1	0	0	0	0	0	0	0	1	9242	610	22	3		3	MAMDC4	9	139753253	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	474802	139753253	1460178	1155	15538											
TRAF2	7186	genome.wustl.edu	37	chr9	139820270	139820270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccctcttctgccccGtctccaagatggaggcaaag	7	8	10	16	1	3	1	0	0	3	1	4	2	3	2	5	2	2	2	5	2	2	1	rs148765924		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139820270G>A	ENST00000247668.2	+	11	1475	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I	TRAF2_ENST00000359662.3_Missense_Mutation_p.V527I|TRAF2_ENST00000536468.1_Missense_Mutation_p.V475I	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	475	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTTCTGCCCCGTCTCCAAGAT	0.567																																																	0								G	ILE/VAL	0,4406		0,0,2203	80	68	72		1423	1.7	0.9	9	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAF2	NM_021138.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/502	139820270	1,13005	2203	4300	6503	SO:0001583	missense	0			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"RING-type (C3HC4) zinc fingers"	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1423G>A	9.37:g.139820270G>A	ENSP00000247668:p.Val475Ile		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V527I	ENST00000247668.2	37	c.1579	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441759	0.43326	0.0	1.16E-4	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.42513	0.97;0.97;0.97	4.52	1.7	0.24286	TRAF-type (1);TRAF-like (1);MATH (3);	0.133902	0.50627	N	0.000103	T	0.20901	0.0503	N	0.12182	0.205	0.42919	D	0.99428	P;P;B	0.40534	0.546;0.72;0.191	B;B;B	0.36534	0.144;0.227;0.037	T	0.03325	-1.1048	10	0.32370	T	0.25	-44.1988	8.9616	0.35851	0.2434:0.0:0.7566:0.0	.	464;450;475	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	I	475;474;475;527;396	ENSP00000446414:V475I;ENSP00000247668:V475I;ENSP00000352685:V527I	ENSP00000247668:V475I	V	+	1	0	TRAF2	138940091	0.998000	0.40836	0.908000	0.35775	0.977000	0.68977	3.022000	0.49659	0.193000	0.20303	-0.291000	0.09656	GTC	TRAF2	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000127191		0.567	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	HGNC	protein_coding	OTTHUMT00000055166.1	-	0	45	0	G	NM_021138		139820270	1	tier1	rs148765924	no_errors	ENST00000359662	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.943	A	A	139820270	G	A	139820270	3	1	58	1	0	0	0	0	1	0	0	0	16486	1145	40	1	1461	1	TRAF2	9	139820270	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	67017	139820270	1393161	1156	15539											
FBXW5	54461	genome.wustl.edu	37	chr9	139836708	139836708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccctccttggcgtgggCgggggccgggccagccacca	5	4	16	16	3	0	0	0	0	0	0	1	0	1	0	6	5	2	0	6	5	1	1	rs561473224		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139836708C>T	ENST00000325285.3	-	6	965	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	296					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTGGCGTGGGCGGGGGCCGGG	0.706													C|||	1	0.000199681	0	0	5008	,	,		14894	0		0.001	False		,,,				2504	0																0													9	12	11					9																	139836708		2155	4240	6395	SO:0001583	missense	0			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"F-boxes / WD-40 domains", "WD repeat domain containing"	13613	protein-coding gene	gene with protein product		609072	"F-box and WD-40 domain protein 5"				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.886G>A	9.37:g.139836708C>T	ENSP00000313034:p.Ala296Thr		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A296T	ENST00000325285.3	37	c.886	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	C	1.429	-0.570796	0.03910	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.74842	-0.88;0.92	4.59	0.364	0.16124	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	1.949570	0.02321	N	0.072989	T	0.54581	0.1867	N	0.22421	0.69	0.09310	N	1	B;B	0.27700	0.186;0.103	B;B	0.14578	0.011;0.01	T	0.35301	-0.9794	10	0.10902	T	0.67	-12.5561	3.0573	0.06188	0.1229:0.451:0.2661:0.16	.	161;296	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	296;131	ENSP00000313034:A296T;ENSP00000409102:A131T	ENSP00000313034:A296T	A	-	1	0	FBXW5	138956529	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.445000	0.21677	0.177000	0.19895	0.555000	0.69702	GCC	FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000159069		0.706	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	-	0	66	0	C	NM_018998		139836708	-1	tier1	-	no_errors	ENST00000325285	ensembl	human	known	74_37	missense	45.10	28	23	SNP	0.000	T	T	139836708	C	T	139836708	3	4	58	1	0	0	0	0	1	0	0	0	5790	768	27	1	830	1	FBXW5	9	139836708	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	16438	139836708	1376723	1157	15540											
LCNL1	401562	genome.wustl.edu	37	chr9	139879317	139879317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccagacacccccgcttcGggtctgggatgtcacccctg	6	7	11	17	2	2	1	1	0	1	1	3	3	2	2	5	2	0	1	5	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139879317G>T	ENST00000408973.2	+	3	943	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	117																	CCCCCGCTTCGGGTCTGGGAT	0.692																																																	0													12	15	14					9																	139879317		1937	4080	6017	SO:0001583	missense	0				CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"Lipocalins"	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	ENST00000408973.2:c.349G>T	9.37:g.139879317G>T	ENSP00000386162:p.Gly117Trp			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.G117W	ENST00000408973.2	37	c.349	CCDS43908.1	9	.	.	.	.	.	.	.	.	.	.	g	10.50	1.368878	0.24771	.	.	ENSG00000214402	ENST00000408973	T	0.11385	2.78	1.48	-2.96	0.05547	Calycin-like (1);	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33777	-0.9855	9	0.46703	T	0.11	.	4.5707	0.12208	0.0:0.3171:0.4221:0.2609	.	117	Q6ZST4	LCNL1_HUMAN	W	117	ENSP00000386162:G117W	ENSP00000386162:G117W	G	+	1	0	LCNL1	138999138	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-3.228000	0.00549	-2.220000	0.00728	0.187000	0.17357	GGG	LCNL1	-	superfamily_Calycin-like	ENSG00000214402		0.692	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCNL1	HGNC	protein_coding	OTTHUMT00000356128.1	-	0	141	0	G	NM_207510		139879317	1	tier1	-	no_errors	ENST00000408973	ensembl	human	known	74_37	missense	8.33	99	9	SNP	0.000	T	T	139879317	G	T	139879317	3	4	58	1	0	0	0	0	1	0	0	0	8716	1116	39	2	359	2	LCNL1	9	139879317	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	42609	139879317	1334114	1158	15541											
ABCA2	20	genome.wustl.edu	37	chr9	139908434	139908434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcaccttcagccaccCgccgtccagcttgcggctgc	4	7	11	19	4	1	0	1	0	0	0	2	0	2	0	5	2	4	3	5	2	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139908434C>T	ENST00000371605.3	-	27	4441	c.4294G>A	c.(4294-4296)Ggg>Agg	p.G1432R	ABCA2_ENST00000341511.6_Missense_Mutation_p.G1433R|ABCA2_ENST00000265662.5_Missense_Mutation_p.G1433R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1432					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTCAGCCACCCGCCGTCCAGC	0.662																																																	0													34	43	40					9																	139908434		2094	4201	6295	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4294G>A	9.37:g.139908434C>T	ENSP00000360666:p.Gly1432Arg		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1433R	ENST00000371605.3	37	c.4297		9	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328938	0.24167	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.93133	-3.17;-3.17;-3.17	4.7	3.55	0.40652	.	1.202520	0.05857	U	0.622249	D	0.87573	0.6211	N	0.14661	0.345	0.24747	N	0.993006	B;B	0.15141	0.007;0.012	B;B	0.04013	0.001;0.001	T	0.73861	-0.3849	10	0.30078	T	0.28	.	11.3066	0.49338	0.8395:0.1605:0.0:0.0	.	1432;1463	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	R	1433;1432;1463;1433	ENSP00000265662:G1433R;ENSP00000360666:G1432R;ENSP00000344155:G1433R	ENSP00000265662:G1433R	G	-	1	0	ABCA2	139028255	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	5.788000	0.69020	0.641000	0.30601	-0.500000	0.04577	GGG	ABCA2	-	NULL	ENSG00000107331		0.662	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	11	0	C	NM_001606		139908434	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	75.00	2	6	SNP	1.000	T	T	139908434	C	T	139908434	3	4	58	1	0	0	0	0	1	0	0	0	32	652	23	1	3101	1	ABCA2	9	139908434	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	29117	139908434	1304997	1159	15542											
ABCA2	20	genome.wustl.edu	37	chr9	139909958	139909958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagcggggagccgcagCacttgagcttcccatgggag	9	5	17	10	2	0	2	0	1	0	1	1	5	1	5	2	4	4	3	2	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139909958C>T	ENST00000371605.3	-	23	3749	c.3602G>A	c.(3601-3603)tGc>tAc	p.C1201Y	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.C1202Y|ABCA2_ENST00000265662.5_Missense_Mutation_p.C1202Y			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1201	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGAGCCGCAGCACTTGAGCTT	0.652																																																	0													36	40	39					9																	139909958		2193	4291	6484	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3602G>A	9.37:g.139909958C>T	ENSP00000360666:p.Cys1201Tyr		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.C1202Y	ENST00000371605.3	37	c.3605		9	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853229	0.71719	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.81499	-1.5;-1.5;-1.5	3.94	3.94	0.45596	ABC transporter-like (1);	0.230970	0.44902	U	0.000403	D	0.83977	0.5371	L	0.37507	1.11	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.66497	0.876;0.944	D	0.86527	0.1819	10	0.87932	D	0	.	15.7362	0.77846	0.0:1.0:0.0:0.0	.	1201;1232	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	Y	1202;1201;1232;1202	ENSP00000265662:C1202Y;ENSP00000360666:C1201Y;ENSP00000344155:C1202Y	ENSP00000265662:C1202Y	C	-	2	0	ABCA2	139029779	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.470000	0.80973	2.034000	0.60081	0.313000	0.20887	TGC	ABCA2	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000107331		0.652	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	129	0	C	NM_001606		139909958	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	40.45	53	36	SNP	1.000	T	T	139909958	C	T	139909958	3	4	58	1	0	0	0	0	1	0	0	0	32	710	25	3	3809	3	ABCA2	9	139909958	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1524	139909958	1303473	1160	15543											
FUT7	2529	genome.wustl.edu	37	chr9	139926112	139926112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagccacaggagccagaGggcagcgagcagagccaccc	12	0	14	15	1	0	2	0	0	0	2	0	4	0	3	4	2	6	3	4	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139926112G>T	ENST00000314412.6	-	2	1097	c.79C>A	c.(79-81)Ctc>Atc	p.L27I	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	27					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGAGCCAGAGGGCAGCGAGC	0.711																																																	0													11	14	13					9																	139926112		2102	4149	6251	SO:0001583	missense	0			X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"Fucosyltransferases"	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.79C>A	9.37:g.139926112G>T	ENSP00000318142:p.Leu27Ile		B2R7U7|Q6DK54	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.L27I	ENST00000314412.6	37	c.79	CCDS7022.1	9	.	.	.	.	.	.	.	.	.	.	g	0.250	-1.007446	0.02112	.	.	ENSG00000180549	ENST00000314412	T	0.27557	1.66	4.76	-2.26	0.06867	.	2.949500	0.01400	U	0.013545	T	0.18635	0.0447	N	0.25485	0.75	0.09310	N	0.999999	B	0.10296	0.003	B	0.18263	0.021	T	0.12553	-1.0543	10	0.07813	T	0.8	-8.5644	5.0487	0.14497	0.2897:0.0:0.4742:0.2361	.	27	Q11130	FUT7_HUMAN	I	27	ENSP00000318142:L27I	ENSP00000318142:L27I	L	-	1	0	FUT7	139045933	0.203000	0.23435	0.010000	0.14722	0.065000	0.16274	0.122000	0.15687	-0.545000	0.06224	-2.345000	0.00244	CTC	FUT7	-	NULL	ENSG00000180549		0.711	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT7	HGNC	protein_coding	OTTHUMT00000055220.1	-	0	21	0	G	NM_004479		139926112	-1	tier1	-	no_errors	ENST00000314412	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.026	T	T	139926112	G	T	139926112	3	4	58	1	0	0	0	0	1	0	0	0	6133	1000	35	3	953	3	FUT7	9	139926112	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	16154	139926112	1287319	1161	15544											
DPP7	29952	genome.wustl.edu	37	chr9	140006327	140006327	+	Frame_Shift_Del	DEL	C	C	-																															accccccctcagccttaccaCccccccagaagctggtcagc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140006327delC	ENST00000371579.2	-	10	1209	c.1205delG	c.(1204-1206)ggtfs	p.G402fs		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	402						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGCCTTACCACCCCCCCAGAA	0.706																																																	1	Insertion - Frameshift(1)	large_intestine(1)											23	30	28					9																	140006327		2200	4298	6498	SO:0001589	frameshift_variant	0			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"dipeptidylpeptidase 7"			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1205delG	9.37:g.140006327delC	ENSP00000360635:p.Gly402fs		A8K7U7|Q5VSF1|Q969X4	Frame_Shift_Del	DEL	pfam_Peptidase_S28,pfam_AB_hydrolase_1	p.G402fs	ENST00000371579.2	37	c.1205	CCDS7030.1	9																																																																																			DPP7	-	pfam_Peptidase_S28	ENSG00000176978		0.706	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP7	HGNC	protein_coding	OTTHUMT00000055279.1		0	43	0	C	NM_013379		140006327	-1	tier1		no_errors	ENST00000371579	ensembl	human	known	74_37	frame_shift_del	47.62	11	10	DEL	0.000	-	-	140006327	C	-	140006327	7	5	58	1	0	1	0	1	0	0	0	0	4745	507	18	0	289	0	DPP7	9	140006327	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	80215	140006327	1207104	1162	15545											
FAM166A	401565	genome.wustl.edu	37	chr9	140140255	140140255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctgccccgtggtacgcCcataggtgttccccacctgg	5	8	12	16	2	0	0	0	0	0	0	1	0	1	0	6	3	3	4	6	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140140255C>T	ENST00000344774.4	-	2	161	c.107G>A	c.(106-108)gGg>gAg	p.G36E	FAM166A_ENST00000388932.2_Missense_Mutation_p.G36E	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	36						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGTGGTACGCCCATAGGTGTT	0.612																																																	0													41	42	42					9																	140140255		2202	4300	6502	SO:0001583	missense	0			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.107G>A	9.37:g.140140255C>T	ENSP00000344729:p.Gly36Glu		A6NND9|Q8N830	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.G36E	ENST00000344774.4	37	c.107	CCDS35186.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082773	0.76528	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	T;T;T	0.71103	-0.54;-0.54;-0.54	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000001	D	0.84920	0.5579	M	0.83774	2.66	0.49213	D	0.99976	D	0.89917	1.0	D	0.97110	1.0	D	0.87600	0.2496	10	0.87932	D	0	-34.9724	16.0716	0.80940	0.0:1.0:0.0:0.0	.	36	Q6J272	F166A_HUMAN	E	36	ENSP00000344729:G36E;ENSP00000373584:G36E;ENSP00000420741:G36E	ENSP00000344729:G36E	G	-	2	0	FAM166A	139260076	0.995000	0.38212	1.000000	0.80357	0.774000	0.43823	3.655000	0.54460	2.362000	0.80069	0.462000	0.41574	GGG	FAM166A	-	pfam_UPF0573/UPF0605	ENSG00000188163		0.612	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM166A	HGNC	protein_coding	OTTHUMT00000356125.1	-	0	30	0	C	NM_001001710		140140255	-1	tier1	-	no_errors	ENST00000344774	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T	T	140140255	C	T	140140255	3	4	58	1	0	0	0	0	1	0	0	0	5500	623	22	3	870	3	FAM166A	9	140140255	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	133928	140140255	1073176	1163	15546											
PNPLA7	375775	genome.wustl.edu	37	chr9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-																															agggtgctgtagctgtcgatGggggggcgcaggtactcgca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140356679delG	ENST00000277531.4	-	30	3708	c.3522delC	c.(3520-3522)cccfs	p.P1174fs	NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000406427.1_Frame_Shift_Del_p.P1199fs|PNPLA7_ENST00000371457.1_Frame_Shift_Del_p.P780fs|NSMF_ENST00000371474.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1174					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGCTGTCGATGGGGGGGCGCA	0.652																																																	0													46	43	44					9																	140356679		2203	4298	6501	SO:0001589	frameshift_variant	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3522delC	9.37:g.140356679delG	ENSP00000277531:p.Pro1174fs		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.I1200fs	ENST00000277531.4	37	c.3597	CCDS7045.1	9																																																																																			PNPLA7	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000130653		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1		0	85	0	G	NM_152286		140356679	-1	tier1		no_errors	ENST00000406427	ensembl	human	known	74_37	frame_shift_del	18.64	48	11	DEL	1.000	-	-	140356679	G	-	140356679	7	5	58	1	0	1	0	1	0	0	0	0	12209	1335	47	0	451	0	PNPLA7	9	140356679	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	216424	140356679	856752	1164	15547											
AKR1E2	83592	genome.wustl.edu	37	chr10	4872921	4872921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccattgacgcagggtacCggcacttcgactgtgcttac	8	9	12	12	3	0	1	0	1	0	0	1	2	0	1	2	3	3	4	2	3	2	4	rs368269250		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:4872921C>T	ENST00000298375.7	+	2	165	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	AKR1E2_ENST00000532248.1_Missense_Mutation_p.R32W|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R32W|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Missense_Mutation_p.R32W	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	32						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CGCAGGGTACCGGCACTTCGA	0.512																																					NSCLC(43;343 1097 20371 28813 45509)												0													183	154	164					10																	4872921		2203	4300	6503	SO:0001583	missense	0			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"Aldo-keto reductases"	23437	protein-coding gene	gene with protein product			"aldo-keto reductase family 1, member C-like 2"	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.94C>T	10.37:g.4872921C>T	ENSP00000298375:p.Arg32Trp		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.R32W	ENST00000298375.7	37	c.94	CCDS31134.1	10	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726646	0.30593	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	3.95	2.03	0.26663	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.200818	0.38778	N	0.001565	T	0.62962	0.2471	H	0.97440	4.005	0.46241	D	0.998944	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.992;0.996;0.998;0.999	T	0.62918	-0.6752	10	0.87932	D	0	.	4.9001	0.13769	0.4103:0.4857:0.0:0.104	.	32;32;32;32;32	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	W	36;32;32;32;32	ENSP00000435436:R36W;ENSP00000298375:R32W;ENSP00000432947:R32W;ENSP00000335034:R32W;ENSP00000335603:R32W	ENSP00000298375:R32W	R	+	1	2	AKR1E2	4862921	0.857000	0.29778	0.200000	0.23457	0.075000	0.17131	1.407000	0.34657	0.584000	0.29591	-0.224000	0.12420	CGG	AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000165568		0.512	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	-	0	90	0	C	NM_031436		4872921	1	tier1	-	no_errors	ENST00000298375	ensembl	human	known	74_37	missense	36.04	71	40	SNP	0.966	T	T	4872921	C	T	4872921	3	4	58	1	0	0	0	0	1	0	0	0	474	643	23	1	100	1	AKR1E2	10	4872921	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09		4872921	130661826	1165	15548											
FBXO18	84893	genome.wustl.edu	37	chr10	5957464	5957464	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcatcgcaaagcaggccGaacgcgtcttccccagcaac	12	4	10	15	4	1	1	0	0	1	1	3	2	2	1	3	1	5	4	3	1	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:5957464G>T	ENST00000362091.4	+	9	1610	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	FBXO18_ENST00000379999.5_Nonsense_Mutation_p.E550*|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	499					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAGCAGGCCGAACGCGTCTT	0.532																																																	0													158	104	122					10																	5957464		2203	4300	6503	SO:0001587	stop_gained	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"F-boxes /  "other""	13620	protein-coding gene	gene with protein product		607222	"F-box only protein 18"			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1495G>T	10.37:g.5957464G>T	ENSP00000355415:p.Glu499*		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.E550*	ENST00000362091.4	37	c.1648	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.390810	0.97529	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.26	4.34	0.51931	.	0.431173	0.27797	N	0.017808	.	.	.	.	.	.	0.21445	N	0.999682	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-28.9415	8.7843	0.34811	0.1752:0.0:0.8248:0.0	.	.	.	.	X	499;236;550;236	.	ENSP00000355415:E499X	E	+	1	0	FBXO18	5997470	0.036000	0.19791	0.820000	0.32676	0.919000	0.55068	1.693000	0.37742	2.625000	0.88918	0.555000	0.69702	GAA	FBXO18	-	superfamily_P-loop_NTPase	ENSG00000134452		0.532	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1		0	53	0	G	NM_032807		5957464	1			no_errors	ENST00000379999	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.004	T	T	5957464	G	T	5957464	4	4	58	1	0	0	0	0	0	1	0	0	5753	1059	37	2	1691	2	FBXO18	10	5957464	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1084543	5957464	129577283	1166	15549											
IL15RA	3601	genome.wustl.edu	37	chr10	6008125	6008125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactaatgcatttgagactgGgggttgtccagtgggcgaca	9	10	14	8	1	0	1	0	1	0	1	1	3	1	1	1	3	1	2	1	3	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:6008125G>T	ENST00000379977.3	-	2	363	c.266C>A	c.(265-267)cCc>cAc	p.P89H	IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Missense_Mutation_p.P89H|IL15RA_ENST00000525219.2_Missense_Mutation_p.P53H|IL15RA_ENST00000397255.3_Missense_Mutation_p.P89H|IL15RA_ENST00000397250.2_Intron|IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000397251.3_Intron|IL15RA_ENST00000530685.1_Missense_Mutation_p.P89H|IL15RA_ENST00000397248.2_Missense_Mutation_p.P53H			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	89	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TTTGAGACTGGGGGTTGTCCA	0.577																																																	0													73	69	71					10																	6008125		2203	4300	6503	SO:0001583	missense	0			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"Interleukins and interleukin receptors", "CD molecules"	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.266C>A	10.37:g.6008125G>T	ENSP00000369312:p.Pro89His		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P89H	ENST00000379977.3	37	c.266	CCDS7074.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.73|13.73	2.323822|2.323822	0.41096|0.41096	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000397246;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000530685;ENST00000397255;ENST00000429135;ENST00000453922|ENST00000532039	T;T;T;T;T;T;T;T|T	0.29397|0.25749	1.71;1.57;1.57;1.71;1.71;1.57;1.71;1.57|1.78	4.8|4.8	4.8|4.8	0.61643|0.61643	Complement control module (2);Sushi/SCR/CCP (2);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.60455|0.60455	1.87|1.87	0.38263|0.38263	D|D	0.941932|0.941932	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.44314|0.44314	-0.9336|-0.9336	10|8	0.87932|0.87932	D|D	0|0	-10.9982|-10.9982	13.3557|13.3557	0.60627|0.60627	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	89;89|.	Q13261-3;Q13261|.	.;I15RA_HUMAN|.	H|T	53;89;53;53;89;89;89;89;53|60	ENSP00000380420:P53H;ENSP00000369312:P89H;ENSP00000380421:P53H;ENSP00000435454:P89H;ENSP00000435995:P89H;ENSP00000380426:P89H;ENSP00000395113:P89H;ENSP00000405107:P53H|ENSP00000432691:P60T	ENSP00000322245:P53H|ENSP00000432691:P60T	P|P	-|-	2|1	0|0	IL15RA|IL15RA	6048131|6048131	1.000000|1.000000	0.71417|0.71417	0.858000|0.858000	0.33744|0.33744	0.128000|0.128000	0.20619|0.20619	4.223000|4.223000	0.58587|0.58587	2.195000|2.195000	0.70347|0.70347	0.462000|0.462000	0.41574|0.41574	CCC|CCA	IL15RA	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134470		0.577	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL15RA	HGNC	protein_coding	OTTHUMT00000046615.2	-	0	40	0	G	NM_172200, NM_002189		6008125	-1	tier1	-	no_errors	ENST00000379977	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.981	T	T	6008125	G	T	6008125	3	4	58	1	0	0	0	0	1	0	0	0	7659	1232	43	3	561	3	IL15RA	10	6008125	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	50661	6008125	129526622	1167	15550											
GATA3	2625	genome.wustl.edu	37	chr10	8105978	8105979	+	Frame_Shift_Ins	INS	-	-	G																															gcagggagtgtgtgaactgtINSggggcaacctcgaccccact																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:8105978_8105979insG	ENST00000346208.3	+	4	1253_1254	c.798_799insG	c.(799-801)gggfs	p.G267fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.G268fs|GATA3_ENST00000461472.1_Intron			P23771	GATA3_HUMAN	GATA binding protein 3	267					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GTGTGAACTGTGGGGCAACCTC	0.564			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.802dupG	10.37:g.8105982_8105982dupG	ENSP00000341619:p.Gly267fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.A268fs	ENST00000346208.3	37	c.801_802	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	ENSG00000107485		0.564	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1		0	66	0	-	NM_001002295		8105979	1	tier1		no_errors	ENST00000379328	ensembl	human	known	74_37	frame_shift_ins	43.10	33	25	INS	0.984:1.000	G	G	8105979	-	G	8105978	7	5	58	1	0	1	1	0	0	0	0	0	6280	1702	59	0	811	0	GATA3	10	8105978	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	2097853	8105978	127428769	1168	15551											
CELF2	10659	genome.wustl.edu	37	chr10	11207539	11207539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtttgtcggacagatcccCcggtcatggtcggaaaagga	10	9	13	9	3	1	1	1	0	0	1	4	4	2	4	2	5	0	1	2	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:11207539C>T	ENST00000379261.4	+	2	236	c.144C>T	c.(142-144)ccC>ccT	p.P48P	CELF2_ENST00000609692.1_Silent_p.P24P|CELF2_ENST00000354897.3_Silent_p.P24P|CELF2_ENST00000608830.1_Silent_p.P24P|CELF2_ENST00000416382.2_Silent_p.P48P|CELF2_ENST00000315874.4_Silent_p.P24P|CELF2_ENST00000417956.2_Silent_p.P24P|CELF2_ENST00000427450.1_Silent_p.P24P|CELF2_ENST00000542579.1_Silent_p.P55P|CELF2_ENST00000354440.2_Silent_p.P24P|CELF2_ENST00000399850.3_Silent_p.P24P|CELF2_ENST00000450189.1_Silent_p.P55P|CELF2_ENST00000537122.1_5'UTR	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	48	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GACAGATCCCCCGGTCATGGT	0.522																																																	0													99	104	103					10																	11207539		1945	4150	6095	SO:0001819	synonymous_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.144C>T	10.37:g.11207539C>T			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.P55	ENST00000379261.4	37	c.165	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	ENSG00000048740		0.522	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0	54	0	C			11207539	1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	34.21	25	13	SNP	1.000	T	T	11207539	C	T	11207539	2	4	58	1	0	0	0	0	0	0	0	1	3223	610	22	3		3	CELF2	10	11207539	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3101561	11207539	124327208	1169	15552											
CELF2	10659	genome.wustl.edu	37	chr10	11291153	11291153	+	Frame_Shift_Del	DEL	A	A	-																															gatgaaacctgcagatagtgAaaagtccaacggtaggtggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:11291153delA	ENST00000379261.4	+	4	463	c.371delA	c.(370-372)gaafs	p.E124fs	CELF2_ENST00000609692.1_Frame_Shift_Del_p.E100fs|CELF2_ENST00000354897.3_Frame_Shift_Del_p.E100fs|CELF2_ENST00000608830.1_Frame_Shift_Del_p.E100fs|CELF2_ENST00000416382.2_Frame_Shift_Del_p.E124fs|CELF2_ENST00000315874.4_Frame_Shift_Del_p.E100fs|CELF2_ENST00000417956.2_Frame_Shift_Del_p.E100fs|CELF2_ENST00000427450.1_Frame_Shift_Del_p.E100fs|CELF2_ENST00000542579.1_Frame_Shift_Del_p.E131fs|CELF2_ENST00000354440.2_Frame_Shift_Del_p.E100fs|CELF2_ENST00000399850.3_Frame_Shift_Del_p.E100fs|CELF2_ENST00000450189.1_Frame_Shift_Del_p.E131fs|CELF2_ENST00000537122.1_Frame_Shift_Del_p.E13fs	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	124	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GCAGATAGTGAAAAGTCCAAC	0.408																																																	0													141	130	134					10																	11291153		1856	4100	5956	SO:0001589	frameshift_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.371delA	10.37:g.11291153delA	ENSP00000368563:p.Glu124fs		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.K132fs	ENST00000379261.4	37	c.392	CCDS44354.1	10																																																																																			CELF2	-	NULL	ENSG00000048740		0.408	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding			0	57	0	A			11291153	1	tier1		no_errors	ENST00000450189	ensembl	human	known	74_37	frame_shift_del	38.00	31	19	DEL	1.000	-	-	11291153	A	-	11291153	7	5	58	1	0	1	0	1	0	0	0	0	3223	246	9	0	463	0	CELF2	10	11291153	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	83614	11291153	124243594	1170	15553											
CCDC3	83643	genome.wustl.edu	37	chr10	12940451	12940451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggggcgcacgggcccccGggcattgatgtgcggcagcg	4	4	21	12	5	0	1	0	1	0	0	0	1	0	1	2	6	2	3	2	6	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:12940451G>A	ENST00000378825.3	-	3	904	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	CCDC3_ENST00000378839.1_Missense_Mutation_p.R135W	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	260						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			ACGGGCCCCCGGGCATTGATG	0.672																																																	0													18	21	20					10																	12940451		2164	4240	6404	SO:0001583	missense	0			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.778C>T	10.37:g.12940451G>A	ENSP00000368102:p.Arg260Trp		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.R260W	ENST00000378825.3	37	c.778	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384438	0.25031	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	5.42	3.55	0.40652	.	0.645264	0.15034	N	0.284289	T	0.17789	0.0427	N	0.08118	0	0.22779	N	0.998744	B	0.17268	0.021	B	0.11329	0.006	T	0.15521	-1.0434	9	0.51188	T	0.08	-0.7918	5.3493	0.16026	0.1848:0.1692:0.6459:0.0	.	260	Q9BQI4	CCDC3_HUMAN	W	135;260	.	ENSP00000368102:R260W	R	-	1	2	CCDC3	12980457	0.802000	0.28943	0.010000	0.14722	0.010000	0.07245	1.147000	0.31602	0.657000	0.30906	-0.304000	0.09214	CGG	CCDC3	-	NULL	ENSG00000151468		0.672	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1		0	12	0	G	NM_031455		12940451	-1			no_errors	ENST00000378825	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.615	A	A	12940451	G	A	12940451	3	1	58	1	0	0	0	0	1	0	0	0	2811	1115	39	1	38	1	CCDC3	10	12940451	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1649298	12940451	122594296	1171	15554											
OPTN	10133	genome.wustl.edu	37	chr10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-																															gtgaaagcacaggaaatggaCccccccacctggcccaccca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:13151192delC	ENST00000378748.3	+	4	432	c.70delC	c.(70-72)cccfs	p.P25fs	OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	25					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAATGGACCCCCCCACCT	0.557																																																	0													89	89	89					10																	13151192		2203	4300	6503	SO:0001589	frameshift_variant	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.70delC	10.37:g.13151192delC	ENSP00000368022:p.Pro25fs		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Frame_Shift_Del	DEL	pfam_NEMO_N	p.H26fs	ENST00000378748.3	37	c.70	CCDS7094.1	10																																																																																			OPTN	-	NULL	ENSG00000123240		0.557	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1		0	25	0	C	NM_021980		13151192	1	tier1		no_errors	ENST00000263036	ensembl	human	known	74_37	frame_shift_del	35.71	9	5	DEL	1.000	-	-	13151192	C	-	13151192	7	5	58	1	0	1	0	1	0	0	0	0	10928	507	18	0	72	0	OPTN	10	13151192	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	210741	13151192	122383555	1172	15555											
FRMD4A	55691	genome.wustl.edu	37	chr10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-																															ggatgtggtgggggctgcttGggggggtggctccaatttca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:13696452delG	ENST00000357447.2	-	23	3382	c.3014delC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.P990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGCTGCTTGGGGGGGTGGC	0.537																																																	0													83	80	81					10																	13696452		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3014delC	10.37:g.13696452delG	ENSP00000350032:p.Pro1005fs		A7E2Y3|Q5T377	Frame_Shift_Del	DEL	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.P1005fs	ENST00000357447.2	37	c.3014	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.537	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1		0	33	0	G	NM_018027		13696452	-1	tier1		no_errors	ENST00000357447	ensembl	human	known	74_37	frame_shift_del	54.84	14	17	DEL	1.000	-	-	13696452	G	-	13696452	7	5	58	1	0	1	0	1	0	0	0	0	6075	1348	47	0	113	0	FRMD4A	10	13696452	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	545260	13696452	121838295	1173	15556											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14951099	14951101	+	In_Frame_Del	DEL	CTT	CTT	-																															cagtgaagctgggattcctaCttcttcttcactttcactgt																								rs373709012|rs115250914	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:14951099_14951101delCTT	ENST00000378278.2	-	14	1422_1424	c.1385_1387delAAG	c.(1384-1389)gaagta>gta	p.E462del	DCLRE1C_ENST00000378246.2_In_Frame_Del_p.E347del|DCLRE1C_ENST00000378258.1_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378242.1_In_Frame_Del_p.E115del|DCLRE1C_ENST00000453695.2_In_Frame_Del_p.E342del|DCLRE1C_ENST00000396817.2_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000357717.2_In_Frame_Del_p.E347del|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378249.1_In_Frame_Del_p.E347del|DCLRE1C_ENST00000378255.1_In_Frame_Del_p.E342del			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	462					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E462delE(1)|p.E347delE(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGATTCCTACTTCTTCTTCACT	0.458								Non-homologous end-joining						3	0.000599042	0	0	5008	,	,		21380	0.002		0	False		,,,				2504	0.001																2	Deletion - In frame(2)	large_intestine(2)																																								SO:0001651	inframe_deletion	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1385_1387delAAG	10.37:g.14951105_14951107delCTT	ENSP00000367527:p.Glu462del		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	In_Frame_Del	DEL	pfam_DRMBL	p.E462in_frame_del	ENST00000378278.2	37	c.1387_1385	CCDS31149.1	10																																																																																			DCLRE1C	-	NULL	ENSG00000152457		0.458	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1		0	56	0	CTT	NM_022487		14951101	-1	tier1		no_errors	ENST00000378278	ensembl	human	known	74_37	in_frame_del	28.57	30	12	DEL	0.001:0.990:1.000	-	-	14951101	CTT	-	14951099	7	5	58	1	0	1	0	1	0	0	0	0	4305	565	20	0	695	0	DCLRE1C	10	14951099	In_Frame_Del	DEL	CTT	TCGA-L5-A4OI-01A-11D-A27G-09	1254647	14951099	120583648	1174	15557											
NMT2	9397	genome.wustl.edu	37	chr10	15175068	15175068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaccacaacaggaactcggGtgaatagtcaaatcggaaca	16	7	9	9	2	1	1	1	1	0	0	3	3	1	3	1	3	4	0	1	3	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15175068G>T	ENST00000378165.4	-	5	666	c.586C>A	c.(586-588)Ccc>Acc	p.P196T	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.P183T|NMT2_ENST00000378150.1_Missense_Mutation_p.P183T|NMT2_ENST00000540259.1_Missense_Mutation_p.P8T	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	196					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AGGAACTCGGGTGAATAGTCA	0.423																																					Melanoma(117;1345 1645 4130 12688 30625)												0													173	157	162					10																	15175068		2203	4300	6503	SO:0001583	missense	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.586C>A	10.37:g.15175068G>T	ENSP00000367407:p.Pro196Thr		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.P196T	ENST00000378165.4	37	c.586	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052400	0.75960	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.42900	0.96	5.7	5.7	0.88788	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	M	0.64404	1.975	0.80722	D	1	P;D;P	0.53312	0.932;0.959;0.932	P;P;P	0.58928	0.59;0.848;0.59	T	0.60161	-0.7317	10	0.56958	D	0.05	-17.0812	19.8346	0.96650	0.0:0.0:1.0:0.0	.	196;183;196	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	T	196;183;227;8;183	ENSP00000367407:P196T	ENSP00000367385:P227T	P	-	1	0	NMT2	15215074	1.000000	0.71417	0.862000	0.33874	0.618000	0.37518	7.962000	0.87912	2.686000	0.91538	0.655000	0.94253	CCC	NMT2	-	pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.423	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	-	0	97	0	G	NM_004808		15175068	-1	tier1	-	no_errors	ENST00000378165	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	15175068	G	T	15175068	3	4	58	1	0	0	0	0	1	0	0	0	10543	1261	44	3	942	3	NMT2	10	15175068	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	223969	15175068	120359679	1175	15558											
NMT2	9397	genome.wustl.edu	37	chr10	15175251	15175251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttactcactcaccacttcgGcatcactcaagtctaaagtg	11	12	5	13	1	5	0	4	0	1	0	6	0	5	0	1	1	1	1	1	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15175251G>A	ENST00000378165.4	-	4	583	c.503C>T	c.(502-504)gCc>gTc	p.A168V	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.A155V|NMT2_ENST00000378150.1_Missense_Mutation_p.A155V|NMT2_ENST00000540259.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	168					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CACCACTTCGGCATCACTCAA	0.413																																					Melanoma(117;1345 1645 4130 12688 30625)												0													138	134	135					10																	15175251		2203	4300	6503	SO:0001583	missense	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.503C>T	10.37:g.15175251G>A	ENSP00000367407:p.Ala168Val		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.A168V	ENST00000378165.4	37	c.503	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169692	0.38315	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000535341	T	0.44482	0.92	5.71	3.82	0.43975	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.212607	0.49916	D	0.000140	T	0.35682	0.0940	L	0.31578	0.945	0.80722	D	1	B;B;B	0.34061	0.146;0.436;0.146	B;B;B	0.39935	0.217;0.314;0.217	T	0.12344	-1.0551	10	0.44086	T	0.13	-1.5455	12.4226	0.55527	0.0:0.1278:0.7392:0.133	.	168;155;168	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	V	168;155;199;155	ENSP00000367407:A168V	ENSP00000367385:A199V	A	-	2	0	NMT2	15215257	1.000000	0.71417	0.001000	0.08648	0.232000	0.25224	6.741000	0.74837	0.712000	0.32039	0.655000	0.94253	GCC	NMT2	-	pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.413	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	-	0	110	0	G	NM_004808		15175251	-1	tier1	-	no_errors	ENST00000378165	ensembl	human	known	74_37	missense	35.06	50	27	SNP	0.976	A	A	15175251	G	A	15175251	3	1	58	1	0	0	0	0	1	0	0	0	10543	1203	42	3	1029	3	NMT2	10	15175251	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	183	15175251	120359496	1176	15559											
FAM171A1	221061	genome.wustl.edu	37	chr10	15256454	15256454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggccgtggctggtgacgGacagcgggccagggaattct	6	6	19	10	4	1	1	0	1	1	0	1	3	1	3	2	7	1	1	2	7	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15256454G>T	ENST00000378116.4	-	8	1139	c.1133C>A	c.(1132-1134)tCc>tAc	p.S378Y	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	378						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTGGTGACGGACAGCGGGCC	0.602																																																	0													43	49	47					10																	15256454		2203	4300	6503	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1133C>A	10.37:g.15256454G>T	ENSP00000367356:p.Ser378Tyr		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.S378Y	ENST00000378116.4	37	c.1133	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527906	0.44969	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.34072	1.38	4.96	4.96	0.65561	.	0.165337	0.42420	D	0.000719	T	0.44052	0.1275	L	0.44542	1.39	0.23478	N	0.997594	P	0.47484	0.896	P	0.51266	0.664	T	0.36504	-0.9745	10	0.62326	D	0.03	-13.3715	16.5806	0.84714	0.0:0.0:1.0:0.0	.	378	Q5VUB5	F1711_HUMAN	Y	378;379	ENSP00000367356:S378Y	ENSP00000367356:S378Y	S	-	2	0	FAM171A1	15296460	.	.	0.768000	0.31515	0.474000	0.32979	.	.	2.564000	0.86499	0.563000	0.77884	TCC	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.602	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	-	0	46	0	G	XM_167709		15256454	-1	tier1	-	no_errors	ENST00000378116	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.319	T	T	15256454	G	T	15256454	3	4	58	1	0	0	0	0	1	0	0	0	5509	1174	41	3	1543	3	FAM171A1	10	15256454	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	81203	15256454	120278293	1177	15560											
ITGA8	8516	genome.wustl.edu	37	chr10	15573078	15573078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttctgggagttttgctgGctgatctgtataaggcatct	6	16	11	8	0	3	1	0	1	3	0	4	2	4	2	1	3	1	5	1	3	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15573078G>T	ENST00000378076.3	-	28	3306	c.2953C>A	c.(2953-2955)Cca>Aca	p.P985T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	985					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTTTTGCTGGCTGATCTGTA	0.313																																																	0													100	100	100					10																	15573078		2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2953C>A	10.37:g.15573078G>T	ENSP00000367316:p.Pro985Thr		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P985T	ENST00000378076.3	37	c.2953	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387810	0.82902	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50277	0.75	5.64	5.64	0.86602	.	0.047545	0.85682	D	0.000000	T	0.68229	0.2978	M	0.76328	2.33	0.51482	D	0.999926	D;D	0.71674	0.998;0.996	D;P	0.66084	0.941;0.874	T	0.64875	-0.6304	10	0.33141	T	0.24	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	970;985	F5H818;P53708	.;ITA8_HUMAN	T	985;970	ENSP00000367316:P985T	ENSP00000367316:P985T	P	-	1	0	ITGA8	15613084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.038000	0.70964	2.651000	0.90000	0.643000	0.83706	CCA	ITGA8	-	NULL	ENSG00000077943		0.313	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	39	0	G	NM_003638		15573078	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	15573078	G	T	15573078	3	4	58	1	0	0	0	0	1	0	0	0	7909	1203	42	3	250	3	ITGA8	10	15573078	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	316624	15573078	119961669	1178	15561											
CUBN	8029	genome.wustl.edu	37	chr10	16990497	16990497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacactgatgcggtgaccGtggtgtggaaacccccagca	9	6	13	13	3	0	2	0	2	0	0	0	4	0	3	4	3	3	1	4	3	1	0	rs201958183		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:16990497G>A	ENST00000377833.4	-	35	5254	c.5189C>T	c.(5188-5190)aCg>aTg	p.T1730M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1730	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCGGTGACCGTGGTGTGGAA	0.527																																																	0													84	71	76					10																	16990497		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5189C>T	10.37:g.16990497G>A	ENSP00000367064:p.Thr1730Met		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.T1730M	ENST00000377833.4	37	c.5189	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021341	0.35701	.	.	ENSG00000107611	ENST00000377833	T	0.36878	1.23	5.55	-1.43	0.08884	CUB (4);	1.538580	0.04191	N	0.328339	T	0.58963	0.2159	M	0.84326	2.69	0.09310	N	1	D	0.63046	0.992	P	0.59012	0.85	T	0.56353	-0.7993	10	0.45353	T	0.12	.	11.8696	0.52513	0.4225:0.0:0.5775:0.0	.	1730	O60494	CUBN_HUMAN	M	1730	ENSP00000367064:T1730M	ENSP00000367064:T1730M	T	-	2	0	CUBN	17030503	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.046000	0.30354	-0.607000	0.05738	-1.814000	0.00607	ACG	CUBN	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.527	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	69	0	G	NM_001081		16990497	-1	tier1	rs201958183	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	42.42	19	14	SNP	0.000	A	A	16990497	G	A	16990497	3	1	58	1	0	0	0	0	1	0	0	0	4060	1145	40	1	5814	1	CUBN	10	16990497	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1417419	16990497	118544250	1179	15562											
CUBN	8029	genome.wustl.edu	37	chr10	17165597	17165597	+	Frame_Shift_Del	DEL	G	G	-																															gatgactcaccttccactgtGggggacagatacaaaaaaag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:17165597delG	ENST00000377833.4	-	5	544	c.479delC	c.(478-480)ccafs	p.P160fs	CUBN_ENST00000377823.1_Frame_Shift_Del_p.P160fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	160	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCACTGTGGGGGACAGAT	0.428																																																	0													59	51	54					10																	17165597		2203	4300	6503	SO:0001589	frameshift_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.479delC	10.37:g.17165597delG	ENSP00000367064:p.Pro160fs		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.P160fs	ENST00000377833.4	37	c.479	CCDS7113.1	10																																																																																			CUBN	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000107611		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0	35	0	G	NM_001081		17165597	-1	tier1		no_errors	ENST00000377833	ensembl	human	known	74_37	frame_shift_del	20.83	19	5	DEL	0.470	-	-	17165597	G	-	17165597	7	5	58	1	0	1	0	1	0	0	0	0	4060	1348	47	0	10644	0	CUBN	10	17165597	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	175100	17165597	118369150	1180	15563											
BMI1	648	genome.wustl.edu	37	chr10	22615824	22615824	+	Frame_Shift_Del	DEL	A	A	-																															atgttctacttctagtctgtAaaacgtgtattgttcgttac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:22615824delA	ENST00000376663.3	+	3	623	c.118delA	c.(118-120)aaafs	p.K40fs	COMMD3-BMI1_ENST00000602390.1_Frame_Shift_Del_p.K183fs	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	40					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TCTAGTCTGTAAAACGTGTAT	0.368																																																	0													146	151	149					10																	22615824		2203	4300	6503	SO:0001589	frameshift_variant	0			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	1066	protein-coding gene	gene with protein product		164831	"polycomb group ring finger 4", "B lymphoma Mo-MLV insertion region 1 homolog (mouse)"	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.118delA	10.37:g.22615824delA	ENSP00000365851:p.Lys40fs		Q16030|Q5T8Z3|Q96F37	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T41fs	ENST00000376663.3	37	c.118	CCDS7138.1	10																																																																																			BMI1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000168283		0.368	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1		0	66	0	A	NM_005180		22615824	1	tier1		no_errors	ENST00000376663	ensembl	human	known	74_37	frame_shift_del	36.36	49	28	DEL	1.000	-	-	22615824	A	-	22615824	7	5	58	1	0	1	0	1	0	0	0	0	1457	363	13	0	124	0	BMI1	10	22615824	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	5450227	22615824	112918923	1181	15564											
C10orf67	256815	genome.wustl.edu	37	chr10	23611349	23611349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataatgcttttcaatttctaGgatcctgtcatgcagaatgg	11	15	8	7	0	3	1	2	0	1	1	4	2	4	2	1	2	2	2	1	2	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:23611349G>A	ENST00000323327.4	-	3	515	c.448C>T	c.(448-450)Cta>Tta	p.L150L		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	150										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						TCAATTTCTAGGATCCTGTCA	0.373																																																	0													107	108	108					10																	23611349		1859	4095	5954	SO:0001819	synonymous_variant	0			BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.448C>T	10.37:g.23611349G>A			A8MUP9|Q5SWD4	Silent	SNP	NULL	p.L150	ENST00000323327.4	37	c.448	CCDS44365.1	10																																																																																			C10orf67	-	NULL	ENSG00000179133		0.373	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf67	HGNC	protein_coding	OTTHUMT00000047213.1	-	0	46	0	G	NM_153714		23611349	-1	tier1	-	no_errors	ENST00000323327	ensembl	human	known	74_37	silent	25.00	33	11	SNP	0.000	A	A	23611349	G	A	23611349	2	1	58	1	0	0	0	0	0	0	0	1	1617	991	35	3		3	C10orf67	10	23611349	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	995525	23611349	111923398	1182	15565											
ENKUR	219670	genome.wustl.edu	37	chr10	25288338	25288339	+	Frame_Shift_Del	DEL	AG	AG	-																															gataaaacctactgggtggtAgagttttttcctttgaatgt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:25288338_25288339delAG	ENST00000331161.4	-	2	433_434	c.214_215delCT	c.(214-216)ctafs	p.L72fs	ENKUR_ENST00000376363.1_Frame_Shift_Del_p.L72fs	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	72						motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ACTGGGTGGTAGAGTTTTTTCC	0.312																																																	0																																										SO:0001589	frameshift_variant	0			AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"chromosome 10 open reading frame 63"	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.214_215delCT	10.37:g.25288340_25288341delAG	ENSP00000331044:p.Leu72fs		A8K8Y0|D3DRV2	Frame_Shift_Del	DEL	NULL	p.L72fs	ENST00000331161.4	37	c.215_214	CCDS7146.1	10																																																																																			ENKUR	-	NULL	ENSG00000151023		0.312	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENKUR	HGNC	protein_coding	OTTHUMT00000047239.2		0	45	0	AG	NM_145010		25288339	-1	tier1		no_errors	ENST00000331161	ensembl	human	known	74_37	frame_shift_del	47.30	39	35	DEL	0.376:0.161	-	-	25288339	AG	-	25288338	7	5	58	1	0	1	0	1	0	0	0	0	5136	420	15	0	575	0	ENKUR	10	25288338	Frame_Shift_Del	DEL	AG	TCGA-L5-A4OI-01A-11D-A27G-09	1676989	25288338	110246409	1183	15566											
ANKRD26	22852	genome.wustl.edu	37	chr10	27368033	27368033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaccttagtatcaaaattGaggtcttcgtcatctgaggt	10	16	8	7	1	4	2	2	2	2	0	5	2	4	2	1	2	1	1	1	2	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27368033G>A	ENST00000376087.4	-	7	963	c.798C>T	c.(796-798)ctC>ctT	p.L266L	ANKRD26_ENST00000436985.2_Silent_p.L315L|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	266					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATCAAAATTGAGGTCTTCGT	0.343																																																	0													94	89	91					10																	27368033		1841	4088	5929	SO:0001819	synonymous_variant	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.798C>T	10.37:g.27368033G>A			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L315	ENST00000376087.4	37	c.945	CCDS41499.1	10																																																																																			ANKRD26	-	NULL	ENSG00000107890		0.343	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0	40	0	G			27368033	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	silent	41.94	36	26	SNP	0.000	A	A	27368033	G	A	27368033	2	1	58	1	0	0	0	0	0	0	0	1	654	1277	45	3		3	ANKRD26	10	27368033	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2079695	27368033	108166714	1184	15567											
MASTL	84930	genome.wustl.edu	37	chr10	27459056	27459056	+	Frame_Shift_Del	DEL	A	A	-																															gctcttgtgtaaaccttgctAaaaaatgcttctctggggaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27459056delA	ENST00000375940.4	+	8	1225	c.1168delA	c.(1168-1170)aaafs	p.K391fs	MASTL_ENST00000375946.4_Frame_Shift_Del_p.K391fs|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Frame_Shift_Del_p.K391fs			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.C392fs*17(2)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCTTGCTAAAAAATGCTT	0.418																																																	2	Insertion - Frameshift(2)	large_intestine(1)|stomach(1)											99	99	99					10																	27459056		2203	4300	6503	SO:0001589	frameshift_variant	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1168delA	10.37:g.27459056delA	ENSP00000365107:p.Lys391fs		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K391fs	ENST00000375940.4	37	c.1168	CCDS53502.1	10																																																																																			MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.418	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1		0	36	0	A	NM_032844		27459056	1	tier1		no_errors	ENST00000375940	ensembl	human	known	74_37	frame_shift_del	26.32	14	5	DEL	0.077	-	-	27459056	A	-	27459056	7	5	58	1	0	1	0	1	0	0	0	0	9366	363	13	0	1198	0	MASTL	10	27459056	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	91023	27459056	108075691	1185	15568											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702455	27702455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttcccttttcccgcGccacgcgcagatcctgcacc	4	10	8	19	4	1	1	0	0	1	1	4	1	4	1	5	1	1	3	5	1	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27702455G>A	ENST00000438700.3	-	1	842	c.725C>T	c.(724-726)gCg>gTg	p.A242V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	242					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTTTCCCGCGCCACGCGCAG	0.632																																																	0													39	41	40					10																	27702455		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.725C>T	10.37:g.27702455G>A	ENSP00000417658:p.Ala242Val		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.A242V	ENST00000438700.3	37	c.725	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726703	0.15439	.	.	ENSG00000182077	ENST00000438700	D	0.85629	-2.01	3.93	-6.43	0.01926	.	2.426560	0.01514	N	0.018058	T	0.67116	0.2859	N	0.12182	0.205	0.09310	N	1	B	0.17667	0.023	B	0.17433	0.018	T	0.57207	-0.7851	10	0.18710	T	0.47	0.6932	3.851	0.08955	0.3517:0.0:0.1829:0.4654	.	242	Q3KNS1	PTHD3_HUMAN	V	242	ENSP00000417658:A242V	ENSP00000417658:A242V	A	-	2	0	PTCHD3	27742461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.675000	0.05227	-0.895000	0.03920	-0.397000	0.06425	GCG	PTCHD3	-	pfam_Patched	ENSG00000182077		0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	-	0	56	0	G	XM_370541		27702455	-1	tier1	-	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.000	A	A	27702455	G	A	27702455	3	1	58	1	0	0	0	0	1	0	0	0	12776	1087	38	1	1594	1	PTCHD3	10	27702455	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	243399	27702455	107832292	1186	15569											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702750	27702750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgtcagcatcaagggcgCcagcaggaagatccaggggt	10	5	16	10	1	2	1	2	0	0	1	3	2	3	2	2	5	2	3	2	5	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27702750C>T	ENST00000438700.3	-	1	547	c.430G>A	c.(430-432)Gcg>Acg	p.A144T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	144					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.A144T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCAAGGGCGCCAGCAGGAAG	0.667																																																	1	Substitution - Missense(1)	central_nervous_system(1)											42	48	46					10																	27702750		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.430G>A	10.37:g.27702750C>T	ENSP00000417658:p.Ala144Thr		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.A144T	ENST00000438700.3	37	c.430	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484068	0.26598	.	.	ENSG00000182077	ENST00000438700	D	0.88277	-2.36	3.89	-6.73	0.01749	.	2.478510	0.01521	N	0.018362	T	0.79907	0.4527	L	0.33485	1.01	0.09310	N	1	B	0.19331	0.035	B	0.20384	0.029	T	0.64127	-0.6480	10	0.49607	T	0.09	0.1523	2.4764	0.04576	0.1858:0.2545:0.3808:0.1789	.	144	Q3KNS1	PTHD3_HUMAN	T	144	ENSP00000417658:A144T	ENSP00000417658:A144T	A	-	1	0	PTCHD3	27742756	0.000000	0.05858	0.012000	0.15200	0.017000	0.09413	-0.662000	0.05305	-0.927000	0.03766	-1.153000	0.01818	GCG	PTCHD3	-	NULL	ENSG00000182077		0.667	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	-	0	55	0	C	XM_370541		27702750	-1	tier1	-	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	54.29	16	19	SNP	0.012	T	T	27702750	C	T	27702750	3	4	58	1	0	0	0	0	1	0	0	0	12776	739	26	3	1889	3	PTCHD3	10	27702750	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	295	27702750	107831997	1187	15570											
ARMC4	55130	genome.wustl.edu	37	chr10	28233164	28233164	+	Frame_Shift_Del	DEL	C	C	-																															tactcaccagtttggtgataCccccgtgctgcctcaccacc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:28233164delC	ENST00000305242.5	-	12	1822	c.1730delG	c.(1729-1731)ggtfs	p.G577fs	ARMC4_ENST00000545014.1_Frame_Shift_Del_p.G102fs|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Frame_Shift_Del_p.G269fs	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	577					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTGGTGATACCCCCGTGCTG	0.532																																																	0													65	49	54					10																	28233164		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1730delG	10.37:g.28233164delC	ENSP00000306410:p.Gly577fs		A8K906|B7Z7I1|Q9H0C0	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.G577fs	ENST00000305242.5	37	c.1730	CCDS7157.1	10																																																																																			ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000169126		0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1		0	67	0	C	NM_018076		28233164	-1	tier1		no_errors	ENST00000305242	ensembl	human	known	74_37	frame_shift_del	38.46	40	25	DEL	1.000	-	-	28233164	C	-	28233164	7	5	58	1	0	1	0	1	0	0	0	0	954	507	18	0	1440	0	ARMC4	10	28233164	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	530414	28233164	107301583	1188	15571											
SVIL	6840	genome.wustl.edu	37	chr10	29820936	29820936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacgcatgcctacctatcCgattcctttcgttctgctga	7	14	6	14	3	1	1	0	1	1	0	4	2	3	1	4	0	4	3	4	0	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:29820936C>T	ENST00000355867.4	-	9	2756	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	SVIL_ENST00000375398.2_Silent_p.S668S|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	668					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTACCTATCCGATTCCTTTC	0.453																																																	0													127	125	125					10																	29820936		2203	4300	6503	SO:0001819	synonymous_variant	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2004G>A	10.37:g.29820936C>T			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S668	ENST00000355867.4	37	c.2004	CCDS7164.1	10																																																																																			SVIL	-	NULL	ENSG00000197321		0.453	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	-	0	31	0	C			29820936	-1	tier1	-	no_errors	ENST00000355867	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.003	T	T	29820936	C	T	29820936	2	4	58	1	0	0	0	0	0	0	0	1	15468	639	23	1		1	SVIL	10	29820936	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1587772	29820936	105713811	1189	15572											
C10orf68	79741	genome.wustl.edu	37	chr10	33137552	33137552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttaaaaacaaagatatGtccgtacaacgtcaagaagg	18	10	7	6	2	1	2	1	0	0	2	2	2	2	2	1	1	3	1	1	1	10	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:33137552G>A	ENST00000375030.2	+	20	2025	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	C10orf68_ENST00000375025.4_Missense_Mutation_p.M574I|C10orf68_ENST00000375028.3_Missense_Mutation_p.M514I			Q9H943	CJ068_HUMAN		510										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACAAAGATATGTCCGTACAAC	0.313																																																	0													65	65	65					10																	33137552		2202	4289	6491	SO:0001583	missense	0																														ENST00000375030.2:c.1407G>A	10.37:g.33137552G>A	ENSP00000364170:p.Met469Ile		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.M574I	ENST00000375030.2	37	c.1722		10	.	.	.	.	.	.	.	.	.	.	.	8.085	0.773337	0.16051	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.25912	1.79;1.78;1.77;1.77	3.18	-6.35	0.01975	.	.	.	.	.	T	0.16471	0.0396	L	0.47716	1.5	0.09310	N	1	B;B;B	0.18741	0.03;0.03;0.03	B;B;B	0.15052	0.012;0.012;0.012	T	0.19031	-1.0318	9	0.31617	T	0.26	.	4.7811	0.13202	0.5364:0.0:0.1936:0.27	.	510;514;469	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	I	510;469;514;574;486	ENSP00000303710:M510I;ENSP00000364170:M469I;ENSP00000364168:M514I;ENSP00000364165:M574I	ENSP00000303710:M510I	M	+	3	0	C10orf68	33177558	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.168000	0.03123	-2.017000	0.00944	0.491000	0.48974	ATG	C10orf68	-	NULL	ENSG00000150076		0.313	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	-	0	28	0	G			33137552	1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	A	A	33137552	G	A	33137552	3	1	58	1	0	0	0	0	1	0	0	0	1618	1377	48	3	1596	3	C10orf68	10	33137552	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3316616	33137552	102397195	1190	15573											
CUL2	8453	genome.wustl.edu	37	chr10	35360127	35360127	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgccattaaaaggatacGagaaacggtcattccatgtt	14	10	9	8	2	1	1	1	0	0	1	2	3	2	2	2	2	4	2	2	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:35360127G>A	ENST00000374748.1	-	3	432	c.119C>T	c.(118-120)tCa>tTa	p.S40L	CUL2_ENST00000374746.1_Splice_Site_p.S40L|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374742.1_Splice_Site_p.S40L|CUL2_ENST00000374749.3_Splice_Site_p.S40L|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000374751.3_Splice_Site_p.S40L|CUL2_ENST00000537177.1_Splice_Site_p.S59L			Q13617	CUL2_HUMAN	cullin 2	40					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAAAGGATACGAGAAACGGTC	0.353																																																	0													155	130	139					10																	35360127		2203	4300	6503	SO:0001630	splice_region_variant	0			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.119+1C>T	10.37:g.35360127G>A			B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S59L	ENST00000374748.1	37	c.176	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.277750	0.95459	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.3	5.3	0.74995	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.315814	0.34178	N	0.004193	T	0.54208	0.1844	M	0.71871	2.18	0.80722	D	1	D;P;P	0.65815	0.995;0.946;0.746	D;P;B	0.62955	0.909;0.612;0.342	T	0.50600	-0.8809	9	.	.	.	-10.6237	19.1395	0.93443	0.0:0.0:1.0:0.0	.	40;59;40	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	L	40;40;40;40;40;59;40	ENSP00000363883:S40L;ENSP00000363880:S40L;ENSP00000363878:S40L;ENSP00000363881:S40L;ENSP00000363874:S40L;ENSP00000444856:S59L;ENSP00000414095:S40L	.	S	-	2	0	CUL2	35400133	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.476000	0.97823	2.762000	0.94881	0.655000	0.94253	TCA	CUL2	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000108094		0.353	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	-	0	41	0	G	NM_003591	Missense_Mutation	35360127	-1	tier1	-	no_errors	ENST00000537177	ensembl	human	known	74_37	missense	53.49	20	23	SNP	1.000	A	A	35360127	G	A	35360127	5	1	58	1	0	0	0	0	0	0	1	0	4064	1072	37	1	2198	1	CUL2	10	35360127	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2222575	35360127	100174620	1191	15574											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37431116	37431116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtaaagactggatgcGtggcaagagtaacatctaat	14	9	10	8	1	1	2	0	0	1	2	1	3	1	3	1	2	2	3	1	2	5	3	rs373496322		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:37431116G>A	ENST00000602533.1	+	7	1222	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V375M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V375M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	431					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGGATGCGTGGCAAGAGT	0.388																																																	0								G	MET/VAL	1,3737		0,1,1868	75	75	75		1123	0.1	0	10		75	0,8230		0,0,4115	no	missense	ANKRD30A	NM_052997.2	21	0,1,5983	AA,AG,GG		0.0,0.0268,0.0084	benign	375/1342	37431116	1,11967	1869	4115	5984	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1123G>A	10.37:g.37431116G>A	ENSP00000473551:p.Val375Met		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V375M	ENST00000602533.1	37	c.1123		10	.	.	.	.	.	.	.	.	.	.	.	6.416	0.444848	0.12164	2.68E-4	0.0	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.50813	0.8;0.73	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.30008	0.0751	L	0.40543	1.245	0.09310	N	1	P	0.47841	0.901	B	0.34779	0.189	T	0.15492	-1.0435	8	0.51188	T	0.08	.	.	.	.	.	431	Q9BXX3	AN30A_HUMAN	M	375	ENSP00000354432:V375M;ENSP00000363792:V375M	ENSP00000354432:V375M	V	+	1	0	ANKRD30A	37471122	0.003000	0.15002	0.013000	0.15412	0.013000	0.08279	-0.895000	0.04118	0.132000	0.18615	0.134000	0.15878	GTG	ANKRD30A	-	NULL	ENSG00000148513		0.388	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0	24	0	G	NM_052997		37431116	1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	33.33	4	2	SNP	0.014	A	A	37431116	G	A	37431116	3	1	58	1	0	0	0	0	1	0	0	0	658	1145	40	1	1149	1	ANKRD30A	10	37431116	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2070989	37431116	98103631	1192	15575											
RET	5979	genome.wustl.edu	37	chr10	43600486	43600486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagcagcgggagaagtacGagctggtggccgtgtgcacc	8	5	18	10	4	0	1	0	0	0	1	0	4	0	1	2	3	5	4	2	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:43600486G>A	ENST00000355710.3	+	4	944	c.712G>A	c.(712-714)Gag>Aag	p.E238K	RET_ENST00000340058.5_Missense_Mutation_p.E238K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	238	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGAGAAGTACGAGCTGGTGGC	0.716		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													32	30	31					10																	43600486		2201	4297	6498	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.712G>A	10.37:g.43600486G>A	ENSP00000347942:p.Glu238Lys		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.E238K	ENST00000355710.3	37	c.712	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	g	12.87	2.067264	0.36470	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.54071	0.59;0.59	5.01	3.08	0.35506	Cadherin (4);Cadherin-like (1);	0.762936	0.13252	N	0.401964	T	0.44477	0.1295	L	0.47716	1.5	0.09310	N	1	B;B	0.24132	0.098;0.08	B;B	0.24701	0.055;0.033	T	0.28490	-1.0042	10	0.07325	T	0.83	.	14.9226	0.70851	0.0:0.3253:0.6747:0.0	.	238;238	P07949;P07949-2	RET_HUMAN;.	K	238	ENSP00000347942:E238K;ENSP00000344798:E238K	ENSP00000344798:E238K	E	+	1	0	RET	42920492	0.749000	0.28305	0.608000	0.28969	0.899000	0.52679	1.736000	0.38187	0.616000	0.30141	-0.280000	0.10049	GAG	RET	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165731		0.716	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	-	0	58	0	G	NM_020975		43600486	1	tier1	-	no_errors	ENST00000355710	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.319	A	A	43600486	G	A	43600486	3	1	58	1	0	0	0	0	1	0	0	0	13280	1059	37	1	726	1	RET	10	43600486	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6169370	43600486	91934261	1193	15576											
ANUBL1	93550	genome.wustl.edu	37	chr10	46121400	46121400	+	Splice_Site	DEL	A	A	-																															ttgaaaggaaaatactgaccAaaaaaactcctgtatgttct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:46121400delA	ENST00000344646.5	-	7	2086	c.1871delT	c.(1870-1872)ttg>tg	p.L624fs	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Splice_Site_p.L550fs	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	624							zinc ion binding (GO:0008270)										AATACTGACCAAAAAAACTCC	0.358																																																	0													41	43	42					10																	46121400		2203	4300	6503	SO:0001630	splice_region_variant	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1872+1T>-	10.37:g.46121400delA			A8K8V4|B2RAX2|Q5VVY5	Frame_Shift_Del	DEL	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.L624fs	ENST00000344646.5	37	c.1871	CCDS7214.1	10																																																																																			ZFAND4	-	NULL	ENSG00000172671		0.358	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1		0	19	0	A	NM_174890	Frame_Shift_Del	46121400	-1	tier1		no_errors	ENST00000344646	ensembl	human	known	74_37	frame_shift_del	45.71	19	16	DEL	0.871	-	-	46121400	A	-	46121400	8	5	58	1	0	1	0	1	0	0	1	0	713	144	5	0	328	0	ANUBL1	10	46121400	Splice_Site	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	2520914	46121400	89413347	1194	15577											
PTPN20A	653129	genome.wustl.edu	37	chr10	46584455	46584455	+	Frame_Shift_Del	DEL	T	T	-																															gaagaatatctcggtatctgTttttttctctgttgcttggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:46584455delT	ENST00000374339.3	-	6	636	c.560delA	c.(559-561)aacfs	p.N187fs	PTPN20A_ENST00000509900.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000511769.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000506080.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000502254.1_Intron|PTPN20A_ENST00000374346.3_Frame_Shift_Del_p.N187fs|PTPN20A_ENST00000374218.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000513156.1_Intron|PTPN20A_ENST00000395725.3_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000395721.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000395722.3_Intron|PTPN20A_ENST00000502705.1_Intron|PTPN20A_ENST00000513266.1_Intron|PTPN20A_ENST00000509599.1_Frame_Shift_Del_p.N187fs|PTPN20A_ENST00000505814.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000437863.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000509774.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000374340.3_5'UTR|PTPN20A_ENST00000374342.2_Intron|PTPN20A_ENST00000395727.2_Intron|PTPN20A_ENST00000503851.1_Intron|PTPN20A_ENST00000508602.1_Frame_Shift_Del_p.N159fs			Q4JDL3	PTN20_HUMAN	protein tyrosine phosphatase, non-receptor type 20A	187	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)								Kidney(211;0.201)		TCGGTATCTGTTTTTTTCTCT	0.308																																																	0													5	4	5					10																	46584455		747	484	1231	SO:0001589	frameshift_variant	0					10q11.22	2011-06-09			ENSG00000204179	ENSG00000204179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	23422	protein-coding gene	gene with protein product	"cancer/testis antigen 126"						Standard			Approved	bA142I17.1, CT126		Q4JDL3	OTTHUMG00000018094	ENST00000374339.3:c.560delA	10.37:g.46584455delT	ENSP00000363459:p.Asn187fs		A6NNH8|B7ZKV3|Q4JDG6|Q4JDK1|Q4JDK5|Q4JDK6|Q4JDK8|Q4JDK9|Q4JDL0|Q4JDL1|Q4JDL4|Q4JDL5|Q4JDL6|Q4JDL7|Q4JDL8|Q5RJ33|Q5T1G3	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N187fs	ENST00000374339.3	37	c.560	CCDS31190.1	10																																																																																			PTPN20A	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000204179		0.308	PTPN20A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPN20A	HGNC	protein_coding	OTTHUMT00000358639.1		0	56	0	T			46584455	-1			no_errors	ENST00000374339	ensembl	human	known	74_37	frame_shift_del	10.45	60	7	DEL	1.000	0	-	46584455	T	-	46584455	7	5	58	1	0	1	0	1	0	0	0	0	12829	1725	60	0	722	0	PTPN20A	10	46584455	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	463055	46584455	88950292	1195	15578											
FAM25B	644054	genome.wustl.edu	37	chr10	49207770	49207770	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggtgggccaggccctcGgcagccagcttccccaggcc	4	5	15	17	2	0	0	0	0	0	0	2	0	1	0	6	5	3	2	6	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:49207770G>A	ENST00000342763.4	-	1	48	c.30C>T	c.(28-30)gcC>gcT	p.A10A	FAM25C_ENST00000479781.1_5'Flank	NM_001137548.1	NP_001131020.1	B3EWG5	FM25C_HUMAN	family with sequence similarity 25, member C	10																	CCAGGCCCTCGGCAGCCAGCT	0.657																																																	0																																										SO:0001819	synonymous_variant	0					10q11.22	2008-08-13			ENSG00000188279				23586	protein-coding gene	gene with protein product							Standard	NM_001137548		Approved	bA164N7.4	uc010qfw.2	B3EWG5	OTTHUMG00000018165	ENST00000342763.4:c.30C>T	10.37:g.49207770G>A			B2RV02|Q5VTM1	Silent	SNP	prints_FAM25	p.A10	ENST00000342763.4	37	c.30	CCDS44383.1	10	.	.	.	.	.	.	.	.	.	.	.	2.886	-0.230675	0.05983	.	.	ENSG00000188279	ENST00000342763	.	.	.	0.569	-1.14	0.09741	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.1769	.	.	.	.	.	.	.	X	17	.	.	R	-	1	2	FAM25C	48877776	0.674000	0.27549	0.006000	0.13384	0.010000	0.07245	-1.054000	0.03496	-0.398000	0.07679	0.121000	0.15741	CGA	FAM25C	-	prints_FAM25	ENSG00000188279		0.657	FAM25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM25C	HGNC	protein_coding	OTTHUMT00000047913.2	-	0	184	0	G			49207770	-1	tier1	-	no_errors	ENST00000342763	ensembl	human	known	74_37	silent	17.68	135	29	SNP	0.005	A	A	49207770	G	A	49207770	2	1	58	1	0	0	0	0	0	0	0	1	5568	1103	39	1		1	FAM25B	10	49207770	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2623315	49207770	86326977	1196	15579											
ERCC6	2074	genome.wustl.edu	37	chr10	50684358	50684358	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagacggcaaaataagaccTacggacgggaaaaacaagga	20	3	11	7	3	0	2	0	0	0	2	0	5	0	5	1	4	2	1	1	4	8	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50684358T>C	ENST00000355832.5	-	12	2365		c.e12-2		ERCC6_ENST00000542458.1_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATAAGACCTACGGACGGGA	0.338								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													47	47	47					10																	50684358		2203	4300	6503	SO:0001630	splice_region_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2287-2A>G	10.37:g.50684358T>C			D3DX94|Q5W0L9	Splice_Site	SNP	-	e11-2	ENST00000355832.5	37	c.2287-2	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778044	0.49786	.	.	ENSG00000225830	ENST00000355832;ENST00000539110;ENST00000542458	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4446	0.75220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERCC6	50354364	1.000000	0.71417	0.595000	0.28798	0.387000	0.30353	7.841000	0.86834	2.060000	0.61445	0.455000	0.32223	.	ERCC6	-	-	ENSG00000225830		0.338	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0	34	0	T	NM_000124	Intron	50684358	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	splice_site	47.37	19	18	SNP	0.993	C	C	50684358	T	C	50684358	5	2	58	1	0	0	0	0	0	0	1	0	5233	1536	53	4	2236	4	ERCC6	10	50684358	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1476588	50684358	84850389	1197	15580											
SLC18A3	6572	genome.wustl.edu	37	chr10	50819809	50819809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgcctcatgtgctgggCgtctacctcaccgtgcgcct	3	12	11	15	4	3	0	2	0	1	0	4	0	3	0	4	1	4	1	4	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50819809C>T	ENST00000374115.3	+	1	1463	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	341					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ATGTGCTGGGCGTCTACCTCA	0.667																																																	0													69	68	68					10																	50819809		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1023C>T	10.37:g.50819809C>T			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G341	ENST00000374115.3	37	c.1023	CCDS7231.1	10																																																																																			SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0	31	0	C	NM_003055		50819809	1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	silent	44.83	16	13	SNP	1.000	T	T	50819809	C	T	50819809	2	4	58	1	0	0	0	0	0	0	0	1	14472	755	27	1		1	SLC18A3	10	50819809	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	135451	50819809	84714938	1198	15581											
CHAT	1103	genome.wustl.edu	37	chr10	50827789	50827789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctgcccaaactgcccGtgcccccgctgcagcagacc	7	4	12	18	2	0	1	0	0	0	1	0	1	0	1	5	2	6	4	5	2	1	0	rs201479289		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50827789G>A	ENST00000337653.2	+	3	559	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Missense_Mutation_p.V18M|CHAT_ENST00000395562.2_Missense_Mutation_p.V54M|CHAT_ENST00000455728.2_Missense_Mutation_p.V18M|CHAT_ENST00000395559.2_Missense_Mutation_p.V18M|CHAT_ENST00000351556.3_Missense_Mutation_p.V18M	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	136					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAAACTGCCCGTGCCCCCGCT	0.582																																																	0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	53	42	46		52,160,52,406,52,52,52	5.1	1	10		46	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	21,21,21,21,21,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	18/631,54/667,18/631,136/749,18/631,18/631,18/631	50827789	2,13004	2203	4300	6503	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.406G>A	10.37:g.50827789G>A	ENSP00000337103:p.Val136Met		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.V136M	ENST00000337653.2	37	c.406	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595887	0.46318	0.0	2.33E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.09	5.09	0.68999	.	0.133960	0.50627	D	0.000118	D	0.97816	0.9283	H	0.95437	3.67	0.48632	D	0.999688	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	D	0.99164	1.0862	10	0.87932	D	0	-23.853	18.4848	0.90824	0.0:0.0:1.0:0.0	.	18;136	F8W8I2;P28329	.;CLAT_HUMAN	M	18;18;18;136;54;18	ENSP00000343486:V18M;ENSP00000345878:V18M;ENSP00000378926:V18M;ENSP00000337103:V136M;ENSP00000378929:V54M;ENSP00000390521:V18M	ENSP00000337103:V136M	V	+	1	0	CHAT	50497795	1.000000	0.71417	0.984000	0.44739	0.028000	0.11728	4.506000	0.60428	2.378000	0.81104	0.462000	0.41574	GTG	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.582	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	56	0	G	NM_020549		50827789	1	tier1	rs201479289	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.993	A	A	50827789	G	A	50827789	3	1	58	1	0	0	0	0	1	0	0	0	3320	1145	40	1	460	1	CHAT	10	50827789	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7980	50827789	84706958	1199	15582											
CHAT	1103	genome.wustl.edu	37	chr10	50854670	50854670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactccagctccttcacggcGgaggctacagcaagaacggg	10	5	12	14	3	1	1	1	0	0	1	3	2	3	2	2	4	4	3	2	4	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50854670G>A	ENST00000337653.2	+	8	1384	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	CHAT_ENST00000339797.1_Missense_Mutation_p.G293R|CHAT_ENST00000395562.2_Missense_Mutation_p.G329R|CHAT_ENST00000455728.2_Missense_Mutation_p.G293R|CHAT_ENST00000395559.2_Missense_Mutation_p.G293R|CHAT_ENST00000351556.3_Missense_Mutation_p.G293R	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	411					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCTTCACGGCGGAGGCTACAG	0.637																																																	0													83	71	75					10																	50854670		2203	4300	6503	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1231G>A	10.37:g.50854670G>A	ENSP00000337103:p.Gly411Arg		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G411R	ENST00000337653.2	37	c.1231	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824733	0.90955	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91602	0.5296	10	0.87932	D	0	-14.5516	19.2976	0.94129	0.0:0.0:1.0:0.0	.	293;411	F8W8I2;P28329	.;CLAT_HUMAN	R	293;293;293;411;329;293	ENSP00000343486:G293R;ENSP00000345878:G293R;ENSP00000378926:G293R;ENSP00000337103:G411R;ENSP00000378929:G329R;ENSP00000390521:G293R	ENSP00000337103:G411R	G	+	1	0	CHAT	50524676	1.000000	0.71417	0.954000	0.39281	0.650000	0.38633	9.869000	0.99810	2.569000	0.86673	0.655000	0.94253	GGA	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.637	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	65	0	G	NM_020549		50854670	1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	37.25	31	19	SNP	1.000	A	A	50854670	G	A	50854670	3	1	58	1	0	0	0	0	1	0	0	0	3320	1117	39	1	1305	1	CHAT	10	50854670	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	26881	50854670	84680077	1200	15583											
PCDH15	65217	genome.wustl.edu	37	chr10	55566542	55566542	+	Frame_Shift_Del	DEL	C	C	-																															agtccccacagggcaaggggCaaatgtaaccagagttggtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:55566542delC	ENST00000373965.2	-	36	5246	c.4852delG	c.(4852-4854)gccfs	p.A1618fs	PCDH15_ENST00000414778.1_Frame_Shift_Del_p.A1615fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGCAAGGGGCAAATGTAACC	0.453										HNSCC(58;0.16)																																							0													306	273	283					10																	55566542		1568	3582	5150	SO:0001589	frameshift_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4852delG	10.37:g.55566542delC	ENSP00000363076:p.Ala1618fs		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1615fs	ENST00000373965.2	37	c.4843		10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.453	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291336.1		0	51	0	C	NM_033056		55566542	-1	tier1		no_errors	ENST00000414778	ensembl	human	known	74_37	frame_shift_del	43.18	25	19	DEL	1.000	-	-	55566542	C	-	55566542	7	5	58	1	0	1	0	1	0	0	0	0	11550	710	25	0	206	0	PCDH15	10	55566542	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	4711872	55566542	79968205	1201	15584											
PCDH15	65217	genome.wustl.edu	37	chr10	55568657	55568657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgcactgccctcttcaGggatatcttgagcttcaggg	7	13	10	11	0	5	1	2	1	3	0	5	2	5	2	1	2	3	2	1	2	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:55568657G>T	ENST00000395445.1	-	36	5547	c.5153C>A	c.(5152-5154)cCt>cAt	p.P1718H	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P583H|PCDH15_ENST00000395446.1_Missense_Mutation_p.P914H|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.P652H	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCCTCTTCAGGGATATCTTG	0.468										HNSCC(58;0.16)																																							0													112	89	96					10																	55568657		1568	3579	5147	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5153C>A	10.37:g.55568657G>T	ENSP00000378832:p.Pro1718His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1718H	ENST00000395445.1	37	c.5153		10	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789300	0.31685	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.46	2.24	0.28232	.	.	.	.	.	T	0.44540	0.1298	N	0.14661	0.345	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.25140	0.058;0.058	T	0.38672	-0.9650	9	0.87932	D	0	.	2.0562	0.03582	0.1745:0.1556:0.5094:0.1605	.	1716;1718	C6ZEF5;A2A3E2	.;.	H	1718;914;583;652	ENSP00000378832:P1718H;ENSP00000378833:P914H;ENSP00000378829:P583H;ENSP00000378827:P652H	ENSP00000378827:P652H	P	-	2	0	PCDH15	55238663	0.004000	0.15560	0.026000	0.17262	0.039000	0.13416	1.251000	0.32862	1.309000	0.44985	0.655000	0.94253	CCT	PCDH15	-	NULL	ENSG00000150275		0.468	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	-	0	85	0	G	NM_033056		55568657	-1	tier1	-	no_errors	ENST00000395445	ensembl	human	novel	74_37	missense	5.62	84	5	SNP	0.000	T	T	55568657	G	T	55568657	3	4	58	1	0	0	0	0	1	0	0	0	11550	1000	35	3	763	3	PCDH15	10	55568657	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2115	55568657	79966090	1202	15585											
PCDH15	65217	genome.wustl.edu	37	chr10	55719505	55719505	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatacctatattcctcctGtgtgaagcgtgggatctcac	9	13	8	11	1	2	1	2	1	1	0	5	2	4	2	3	1	2	0	3	1	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:55719505G>A	ENST00000320301.6	-	23	3503	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Q966*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Q1037*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Q1042*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.Q1044*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Q1015*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Q1044*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Q1037*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Q1000*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Q1037*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.Q648*|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1037	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCCTCCTGTGTGAAGCGT	0.413										HNSCC(58;0.16)																																							0													72	65	67					10																	55719505		2203	4300	6503	SO:0001587	stop_gained	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3109C>T	10.37:g.55719505G>A	ENSP00000322604:p.Gln1037*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1037*	ENST00000320301.6	37	c.3109	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	45	11.851792	0.99610	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.1451	0.89652	0.0:0.0:1.0:0.0	.	.	.	.	X	1044;1042;1037;1037;648;1044;1000;1037;1015;1037;1037;1042;966	.	ENSP00000322604:Q1037X	Q	-	1	0	PCDH15	55389511	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.106000	0.71511	2.582000	0.87167	0.585000	0.79938	CAG	PCDH15	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	34	0	G	NM_033056		55719505	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	nonsense	45.28	29	24	SNP	1.000	A	A	55719505	G	A	55719505	4	1	58	1	0	0	0	0	0	1	0	0	11550	1386	48	3	4421	3	PCDH15	10	55719505	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	150848	55719505	79815242	1203	15586											
JMJD1C	221037	genome.wustl.edu	37	chr10	64974152	64974152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagacatacttctcttttTccatgttcaagtgatcattt	11	17	5	8	0	3	2	2	1	1	1	5	3	4	2	1	0	1	1	1	0	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:64974152T>C	ENST00000399262.2	-	8	1993	c.1775A>G	c.(1774-1776)gAa>gGa	p.E592G	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E373G|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E373G|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E410G	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	592					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTTCTCTTTTTCCATGTTCAA	0.388																																																	0													92	82	85					10																	64974152		1877	4119	5996	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1775A>G	10.37:g.64974152T>C	ENSP00000382204:p.Glu592Gly		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E592G	ENST00000399262.2	37	c.1775	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436284	0.43224	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.03	6.03	0.97812	.	0.106545	0.64402	D	0.000006	T	0.42086	0.1187	L	0.47716	1.5	0.45205	D	0.998214	P;P	0.36616	0.561;0.546	B;B	0.30495	0.116;0.073	T	0.36792	-0.9733	10	0.48119	T	0.1	-21.74	16.5655	0.84588	0.0:0.0:0.0:1.0	.	592;410	Q15652;A0T124	JHD2C_HUMAN;.	G	592;373;373;410	ENSP00000382204:E592G;ENSP00000384990:E373G;ENSP00000382195:E373G;ENSP00000444682:E410G	ENSP00000382195:E373G	E	-	2	0	JMJD1C	64644158	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	6.396000	0.73234	2.302000	0.77476	0.533000	0.62120	GAA	JMJD1C	-	NULL	ENSG00000171988		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	-	0	45	0	T	NM_004241		64974152	-1	tier1	-	no_errors	ENST00000399262	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	C	C	64974152	T	C	64974152	3	2	58	1	0	0	0	0	1	0	0	0	7977	1783	62	4	5923	4	JMJD1C	10	64974152	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	9254647	64974152	70560595	1204	15587											
NEUROG3	50674	genome.wustl.edu	37	chr10	71332332	71332332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggctgcccagctccccGcagtgcggcgccggcggctc	2	5	15	19	5	0	0	0	0	0	0	2	0	1	0	5	4	3	4	5	4	0	0	rs199756893		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71332332G>A	ENST00000242462.4	-	2	497	c.468C>T	c.(466-468)tgC>tgT	p.C156C		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	156					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCAGCTCCCCGCAGTGCGGCG	0.706													G|||	1	0.000199681	0	0.0014	5008	,	,		14547	0		0	False		,,,				2504	0																0													17	20	19					10																	71332332		2196	4295	6491	SO:0001819	synonymous_variant	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.468C>T	10.37:g.71332332G>A			Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.C156	ENST00000242462.4	37	c.468	CCDS31212.1	10																																																																																			NEUROG3	-	superfamily_bHLH_dom	ENSG00000122859		0.706	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	HGNC	protein_coding	OTTHUMT00000048464.1	-	0	31	0	G	NM_020999		71332332	-1	tier1	-	no_errors	ENST00000242462	ensembl	human	known	74_37	silent	47.06	18	16	SNP	0.049	A	A	71332332	G	A	71332332	2	1	58	1	0	0	0	0	0	0	0	1	10393	1079	38	1		1	NEUROG3	10	71332332	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6358180	71332332	64202415	1205	15588											
C10orf35	219738	genome.wustl.edu	37	chr10	71391530	71391530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggccaatggggaaatcGtgcaggatgacgacccccga	10	7	13	11	3	1	1	0	1	1	0	2	5	1	3	3	4	1	1	3	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71391530G>A	ENST00000373279.4	+	3	190	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	11						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TGGGGAAATCGTGCAGGATGA	0.592																																																	0													159	116	131					10																	71391530		2203	4300	6503	SO:0001583	missense	0			BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.31G>A	10.37:g.71391530G>A	ENSP00000362376:p.Val11Met			Missense_Mutation	SNP	NULL	p.V11M	ENST00000373279.4	37	c.31	CCDS7295.1	10	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595084	0.86953	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000038	T	0.77116	0.4083	M	0.61703	1.905	0.39476	D	0.967808	D	0.89917	1.0	D	0.81914	0.995	T	0.79902	-0.1607	9	0.72032	D	0.01	-18.6602	16.703	0.85364	0.0:0.0:1.0:0.0	.	11	Q96D05	CJ035_HUMAN	M	11;53	.	ENSP00000362376:V11M	V	+	1	0	C10orf35	71061536	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	6.057000	0.71119	2.551000	0.86045	0.491000	0.48974	GTG	C10orf35	-	NULL	ENSG00000171224		0.592	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf35	HGNC	protein_coding	OTTHUMT00000048454.1	-	0	78	0	G	NM_145306		71391530	1	tier1	-	no_errors	ENST00000373279	ensembl	human	known	74_37	missense	35.00	39	21	SNP	0.993	A	A	71391530	G	A	71391530	3	1	58	1	0	0	0	0	1	0	0	0	1608	1145	40	1	33	1	C10orf35	10	71391530	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	59198	71391530	64143217	1206	15589											
COL13A1	1305	genome.wustl.edu	37	chr10	71658500	71658500	+	Frame_Shift_Del	DEL	A	A	-																															ctggctccacccccggtcatAaaaaggcggacgttccaggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71658500delA	ENST00000398978.3	+	14	1254	c.762delA	c.(760-762)atafs	p.I254fs	COL13A1_ENST00000398969.3_Frame_Shift_Del_p.I197fs|COL13A1_ENST00000522165.1_Frame_Shift_Del_p.I235fs|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000520267.1_Frame_Shift_Del_p.I197fs|COL13A1_ENST00000398964.3_Frame_Shift_Del_p.I225fs|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398968.3_Frame_Shift_Del_p.I235fs|COL13A1_ENST00000398972.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000398974.3_Frame_Shift_Del_p.I242fs|COL13A1_ENST00000356340.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398973.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000398971.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000520133.1_Intron	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCCCGGTCATAAAAAGGCGGA	0.587																																																	0													80	77	78					10																	71658500		2003	4160	6163	SO:0001589	frameshift_variant	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.762delA	10.37:g.71658500delA	ENSP00000381949:p.Ile254fs			Frame_Shift_Del	DEL	pfam_Collagen	p.R256fs	ENST00000398978.3	37	c.762	CCDS44419.1	10																																																																																			COL13A1	-	NULL	ENSG00000197467		0.587	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1		0	54	0	A	NM_005203		71658500	1	tier1		no_errors	ENST00000356340	ensembl	human	known	74_37	frame_shift_del	33.33	36	18	DEL	0.992	-	-	71658500	A	-	71658500	7	5	58	1	0	1	0	1	0	0	0	0	3677	352	13	0	816	0	COL13A1	10	71658500	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	266970	71658500	63876247	1207	15590											
COL13A1	1305	genome.wustl.edu	37	chr10	71697406	71697406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagggggaagcaggactaGatggagcaaaaggagagaaa	17	3	16	5	0	0	2	0	0	0	2	1	7	1	6	1	5	2	2	1	5	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71697406G>A	ENST00000398978.3	+	33	2272	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	COL13A1_ENST00000398969.3_Missense_Mutation_p.D522N|COL13A1_ENST00000522165.1_Missense_Mutation_p.D575N|COL13A1_ENST00000517713.1_Missense_Mutation_p.D557N|COL13A1_ENST00000520267.1_Missense_Mutation_p.D522N|COL13A1_ENST00000398964.3_Missense_Mutation_p.D565N|COL13A1_ENST00000357811.3_Missense_Mutation_p.D572N|COL13A1_ENST00000398968.3_Missense_Mutation_p.D575N|COL13A1_ENST00000398972.3_Missense_Mutation_p.D580N|COL13A1_ENST00000398974.3_Missense_Mutation_p.D582N|COL13A1_ENST00000356340.3_Missense_Mutation_p.D594N|COL13A1_ENST00000354547.3_Missense_Mutation_p.D572N|COL13A1_ENST00000398973.3_Missense_Mutation_p.D580N|COL13A1_ENST00000398966.3_Missense_Mutation_p.D572N|COL13A1_ENST00000398971.3_Missense_Mutation_p.D579N|COL13A1_ENST00000520133.1_Missense_Mutation_p.D528N	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AGCAGGACTAGATGGAGCAAA	0.552																																																	0													46	49	48					10																	71697406		1892	4128	6020	SO:0001583	missense	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"Collagens"	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1780G>A	10.37:g.71697406G>A	ENSP00000381949:p.Asp594Asn			Missense_Mutation	SNP	pfam_Collagen	p.D594N	ENST00000398978.3	37	c.1780	CCDS44419.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.610016|2.610016	0.46527|0.46527	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000456019	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.94232|.	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.38;-3.24;-3.2;-3.2;-3.24;-3.2;-3.24;-3.24;-3.38|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.300125|.	0.31082|.	N|.	0.008298|.	T|T	0.54919|0.54919	0.1888|0.1888	L|L	0.37630|0.37630	1.12|1.12	0.32942|0.32942	D|D	0.51857|0.51857	B;P;B;B;B;B;D;P;P;B;B;B;B;P;B;B;P;P|.	0.53312|.	0.048;0.549;0.241;0.241;0.428;0.284;0.959;0.883;0.92;0.155;0.284;0.241;0.241;0.515;0.241;0.241;0.801;0.949|.	B;B;B;B;B;B;P;B;P;B;B;B;B;B;B;B;B;P|.	0.50860|.	0.089;0.346;0.154;0.154;0.312;0.239;0.652;0.306;0.652;0.073;0.345;0.154;0.154;0.208;0.154;0.154;0.315;0.52|.	T|T	0.60459|0.60459	-0.7259|-0.7259	10|5	0.52906|.	T|.	0.07|.	-2.4085|-2.4085	17.5865|17.5865	0.87983|0.87983	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	522;594;579;580;580;572;575;580;582;579;528;572;557;580;575;572;565;594|.	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	N|K	582;579;575;572;565;522;594;580;580;594;572;572;522;557;575;528|62	ENSP00000381946:D582N;ENSP00000381943:D579N;ENSP00000381940:D575N;ENSP00000381938:D572N;ENSP00000381936:D565N;ENSP00000381941:D522N;ENSP00000348695:D594N;ENSP00000381944:D580N;ENSP00000381945:D580N;ENSP00000381949:D594N;ENSP00000346553:D572N;ENSP00000350463:D572N;ENSP00000428057:D522N;ENSP00000430061:D557N;ENSP00000428342:D575N;ENSP00000430173:D528N|.	ENSP00000346553:D572N|.	D|R	+|+	1|2	0|0	COL13A1|COL13A1	71367412|71367412	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.955000|0.955000	0.61496|0.61496	6.292000|6.292000	0.72725|0.72725	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GAT|AGA	COL13A1	-	pfam_Collagen	ENSG00000197467		0.552	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	-	0	67	0	G	NM_005203		71697406	1	tier1	-	no_errors	ENST00000356340	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	A	A	71697406	G	A	71697406	3	1	58	1	0	0	0	0	1	0	0	0	3677	942	33	3	1910	3	COL13A1	10	71697406	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	38906	71697406	63837341	1208	15591											
EIF4EBP2	1979	genome.wustl.edu	37	chr10	72179687	72179687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaactcgaatcatttatGacagaaagtttctgttggat	13	13	9	6	1	2	2	1	1	1	1	3	5	2	4	0	2	1	2	0	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:72179687G>T	ENST00000373218.4	+	2	186	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	55					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						AATCATTTATGACAGAAAGTT	0.428																																																	0													100	102	101					10																	72179687		2203	4300	6503	SO:0001583	missense	0				CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.163G>T	10.37:g.72179687G>T	ENSP00000362314:p.Asp55Tyr			Missense_Mutation	SNP	pfam_EIF4EBP	p.D55Y	ENST00000373218.4	37	c.163	CCDS7303.1	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662647	0.88251	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.84219	2.685	0.80722	D	1	D	0.57899	0.981	P	0.54815	0.761	T	0.80185	-0.1487	9	0.62326	D	0.03	-13.1135	18.6601	0.91469	0.0:0.0:1.0:0.0	.	55	Q13542	4EBP2_HUMAN	Y	55	.	ENSP00000362314:D55Y	D	+	1	0	EIF4EBP2	71849693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.117000	0.94347	2.781000	0.95711	0.650000	0.86243	GAC	EIF4EBP2	-	pfam_EIF4EBP	ENSG00000148730		0.428	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4EBP2	HGNC	protein_coding	OTTHUMT00000048513.1		0	28	0	G	NM_004096		72179687	1			no_errors	ENST00000373218	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	72179687	G	T	72179687	3	4	58	1	0	0	0	0	1	0	0	0	5049	1290	45	3	169	3	EIF4EBP2	10	72179687	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	482281	72179687	63355060	1209	15592											
C10orf27	219793	genome.wustl.edu	37	chr10	72541636	72541636	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcgtccaaagcagtaGgtgccaggggtttggggctt	7	9	17	8	1	0	1	0	1	0	0	1	1	1	1	2	6	2	4	2	6	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:72541636G>T	ENST00000299290.1	-	4	587	c.198C>A	c.(196-198)acC>acA	p.T66T	TBATA_ENST00000456372.2_Silent_p.T66T|TBATA_ENST00000545575.1_Silent_p.T56T	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	66					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CAAAGCAGTAGGTGCCAGGGG	0.622																																																	0													124	112	116					10																	72541636		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"chromosome 10 open reading frame 27"	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.198C>A	10.37:g.72541636G>T			A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	NULL	p.T66	ENST00000299290.1	37	c.198	CCDS7308.1	10																																																																																			TBATA	-	NULL	ENSG00000166220		0.622	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	-	0	34	0	G	NM_152710		72541636	-1	tier1	-	no_errors	ENST00000299290	ensembl	human	known	74_37	silent	59.38	13	19	SNP	1.000	T	T	72541636	G	T	72541636	2	4	58	1	0	0	0	0	0	0	0	1	1605	987	35	3		3	C10orf27	10	72541636	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	361949	72541636	62993111	1210	15593											
SLC29A3	55315	genome.wustl.edu	37	chr10	73111425	73111425	+	Frame_Shift_Del	DEL	T	T	-																															cttcctcctggacccgtggcTtttttgcggtcaccattgtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:73111425delT	ENST00000373189.5	+	4	542	c.490delT	c.(490-492)tttfs	p.F165fs		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	165					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GACCCGTGGCTTTTTTGCGGT	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													209	154	173					10																	73111425		2203	4300	6503	SO:0001589	frameshift_variant	0			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"Solute carriers"	23096	protein-coding gene	gene with protein product		612373	"solute carrier family 29 (nucleoside transporters), member 3"			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.490delT	10.37:g.73111425delT	ENSP00000362285:p.Phe165fs		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Frame_Shift_Del	DEL	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.F165fs	ENST00000373189.5	37	c.490	CCDS7310.1	10																																																																																			SLC29A3	-	NULL	ENSG00000198246		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1		0	105	0	T	NM_018344		73111425	1	tier1		no_errors	ENST00000373189	ensembl	human	known	74_37	frame_shift_del	39.05	64	41	DEL	1.000	-	-	73111425	T	-	73111425	7	5	58	1	0	1	0	1	0	0	0	0	14581	1609	56	0	504	0	SLC29A3	10	73111425	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	569789	73111425	62423322	1211	15594											
CHST3	9469	genome.wustl.edu	37	chr10	73768016	73768016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacacgcaggcggcccaCgacggcagcggcatctactc	11	3	12	15	5	1	1	0	0	1	1	2	2	1	1	1	4	3	3	1	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:73768016C>T	ENST00000373115.4	+	3	1664	c.1227C>T	c.(1225-1227)caC>caT	p.H409H		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	409					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						AGGCGGCCCACGACGGCAGCG	0.657																																																	0													18	17	17					10																	73768016		2187	4270	6457	SO:0001819	synonymous_variant	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1227C>T	10.37:g.73768016C>T			O75099|Q52M30	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.H409	ENST00000373115.4	37	c.1227	CCDS7312.1	10																																																																																			CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.657	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	-	0	52	0	C	NM_004273		73768016	1	tier1	-	no_errors	ENST00000373115	ensembl	human	known	74_37	silent	50.00	26	26	SNP	0.006	T	T	73768016	C	T	73768016	2	4	58	1	0	0	0	0	0	0	0	1	3412	535	19	1		1	CHST3	10	73768016	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	656591	73768016	61766731	1212	15595											
SPOCK2	9806	genome.wustl.edu	37	chr10	73827995	73827995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccgtggggcaggggCaggggccctcgcatcgcacc	4	5	16	16	3	0	0	0	0	0	0	3	0	1	0	4	6	1	5	4	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:73827995C>T	ENST00000373109.2	-	6	983	c.539G>A	c.(538-540)tGc>tAc	p.C180Y	SPOCK2_ENST00000536168.1_Missense_Mutation_p.C180Y|SPOCK2_ENST00000317376.4_Missense_Mutation_p.C180Y|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	180	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGGCAGGGGCAGGGGCCCTC	0.672																																																	0													26	22	23					10																	73827995		2199	4298	6497	SO:0001583	missense	0			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.539G>A	10.37:g.73827995C>T	ENSP00000362201:p.Cys180Tyr		C9J767|Q6UW87	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.C180Y	ENST00000373109.2	37	c.539	CCDS7313.1	10	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359595	0.82353	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	D;D	0.96913	-4.17;-4.17	5.33	5.33	0.75918	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.108957	0.64402	D	0.000001	D	0.98883	0.9622	H	0.98542	4.26	0.80722	D	1	D	0.61697	0.99	P	0.62184	0.899	D	0.99513	1.0956	10	0.87932	D	0	.	18.6151	0.91300	0.0:1.0:0.0:0.0	.	180	Q92563	TICN2_HUMAN	Y	177;180;180	ENSP00000321108:C180Y;ENSP00000439445:C180Y	ENSP00000321108:C180Y	C	-	2	0	SPOCK2	73498001	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.248000	0.78268	2.502000	0.84385	0.407000	0.27541	TGC	SPOCK2	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000107742		0.672	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2	-	0	74	0	C			73827995	-1	tier1	-	no_errors	ENST00000317376	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	T	T	73827995	C	T	73827995	3	4	58	1	0	0	0	0	1	0	0	0	15127	710	25	3	759	3	SPOCK2	10	73827995	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	59979	73827995	61706752	1213	15596											
SYNPO2L	79933	genome.wustl.edu	37	chr10	75407478	75407478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggggttgggcgagttcttCgtctcctcctttcccggccg	1	13	13	14	5	2	0	0	0	2	0	7	1	4	0	4	4	0	2	4	4	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:75407478C>T	ENST00000394810.2	-	4	2081	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	SYNPO2L_ENST00000372873.4_Silent_p.T420T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	644	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGAGTTCTTCGTCTCCTCCT	0.637																																																	0													78	92	87					10																	75407478		2202	4300	6502	SO:0001819	synonymous_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1932G>A	10.37:g.75407478C>T			A5PKV9|Q68A20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T644	ENST00000394810.2	37	c.1932	CCDS44438.1	10																																																																																			SYNPO2L	-	NULL	ENSG00000166317		0.637	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	-	0	43	0	C	NM_024875		75407478	-1	tier1	-	no_errors	ENST00000394810	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.921	T	T	75407478	C	T	75407478	2	4	58	1	0	0	0	0	0	0	0	1	15505	871	31	1		1	SYNPO2L	10	75407478	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1579483	75407478	60127269	1214	15597											
SYNPO2L	79933	genome.wustl.edu	37	chr10	75415607	75415608	+	Frame_Shift_Ins	INS	-	-	C																															taacggtttcctctgctcggINScccccccatgaagtcggaag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:75415607_75415608insC	ENST00000394810.2	-	1	222_223	c.73_74insG	c.(73-75)gccfs	p.A25fs	RP11-464F9.21_ENST00000606726.1_RNA|RP11-464F9.21_ENST00000607450.1_RNA	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	25	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCTCTGCTCGGCCCCCCCATGA	0.609																																																	0																																										SO:0001589	frameshift_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.74dupG	10.37:g.75415614_75415614dupC	ENSP00000378289:p.Ala25fs		A5PKV9|Q68A20	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A25fs	ENST00000394810.2	37	c.74_73	CCDS44438.1	10																																																																																			SYNPO2L	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000166317		0.609	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2		0	65	0	-	NM_024875		75415608	-1	tier1		no_errors	ENST00000394810	ensembl	human	known	74_37	frame_shift_ins	45.28	29	24	INS	1.000:1.000	C	C	75415608	-	C	75415607	7	5	58	1	0	1	1	0	0	0	0	0	15505	1203	42	0	2979	0	SYNPO2L	10	75415607	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	8129	75415607	60119140	1215	15598											
RPS24	6229	genome.wustl.edu	37	chr10	79814587	79814587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcctcacctgctcctgCtggttctccccaccctgtgg	2	11	9	19	0	2	0	1	0	1	0	4	0	3	0	7	2	3	3	7	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:79814587C>A	ENST00000440692.1	+	5	831	c.689C>A	c.(688-690)gCt>gAt	p.A230D	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			cctgctcctgctggttctccc	0.572																																																	0													111	112	112					10																	79814587		692	1591	2283	SO:0001583	missense	0			AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"S ribosomal proteins"	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.689C>A	10.37:g.79814587C>A	ENSP00000414321:p.Ala230Asp		E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom	p.A230D	ENST00000440692.1	37	c.689	CCDS44443.1	10	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166644	0.21621	.	.	ENSG00000138326	ENST00000440692	.	.	.	1.82	0.85	0.18980	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28459	-1.0043	7	.	.	.	.	5.3172	0.15862	0.3367:0.6633:0.0:0.0	.	230	E7EPK6	.	D	230	.	.	A	+	2	0	RPS24	79484593	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.956000	0.03865	0.310000	0.22990	0.462000	0.41574	GCT	RPS24	-	NULL	ENSG00000138326		0.572	RPS24-202	KNOWN	basic|CCDS	protein_coding	RPS24	HGNC	protein_coding		-	0	96	0	C	NM_001026		79814587	1	tier1	-	no_errors	ENST00000440692	ensembl	human	known	74_37	missense	27.40	53	20	SNP	0.001	A	A	79814587	C	A	79814587	3	1	58	1	0	0	0	0	1	0	0	0	13680	797	28	3	746	3	RPS24	10	79814587	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4398980	79814587	55720160	1216	15599											
SH2D4B	387694	genome.wustl.edu	37	chr10	82331259	82331259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagcccggatcttggcGgagaagtggaaagtggagat	13	6	17	5	2	1	3	0	0	1	3	1	8	1	5	1	5	1	0	1	5	3	1	rs151180626		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:82331259G>A	ENST00000470604.2	+	3	417	c.417G>A	c.(415-417)gcG>gcA	p.A139A	SH2D4B_ENST00000313455.4_Silent_p.A91A|SH2D4B_ENST00000339284.2_Silent_p.A140A			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	139	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGATCTTGGCGGAGAAGTGGA	0.572																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	77	72	73		273,420	-11.1	0.1	10	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SH2D4B	NM_001145719.1,NM_207372.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	91/310,140/358	82331259	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"SH2 domain containing"	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.417G>A	10.37:g.82331259G>A			Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.A139	ENST00000470604.2	37	c.417		10																																																																																			SH2D4B	-	NULL	ENSG00000178217		0.572	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	HGNC	protein_coding		-	0	33	0	G	XM_351984		82331259	1	tier1	rs151180626	no_errors	ENST00000470604	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.035	A	A	82331259	G	A	82331259	2	1	58	1	0	0	0	0	0	0	0	1	14281	1103	39	1		1	SH2D4B	10	82331259	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2516672	82331259	53203488	1217	15600											
LRIT2	340745	genome.wustl.edu	37	chr10	85984820	85984820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgcttgaactcttcaGaaaggttcccagggatcttt	9	14	8	10	0	4	2	2	1	2	1	5	3	5	3	1	2	2	2	1	2	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:85984820G>T	ENST00000372113.4	-	2	166	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	LRIT2_ENST00000538192.1_Missense_Mutation_p.S54Y	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	54	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GAACTCTTCAGAAAGGTTCCC	0.438																																																	0													65	72	70					10																	85984820		2193	4295	6488	SO:0001583	missense	0				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.161C>A	10.37:g.85984820G>T	ENSP00000361185:p.Ser54Tyr		B7ZME6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S54Y	ENST00000372113.4	37	c.161	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721607	0.30503	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.54675	0.56;0.56	5.71	2.89	0.33648	Leucine-rich repeat-containing N-terminal (1);	0.393157	0.28273	N	0.015956	T	0.27278	0.0669	N	0.08118	0	0.20307	N	0.999917	P;B	0.45283	0.855;0.347	B;B	0.34652	0.187;0.087	T	0.11842	-1.0571	10	0.72032	D	0.01	.	10.047	0.42192	0.221:0.0:0.779:0.0	.	54;54	B7ZME6;A6NDA9	.;LRIT2_HUMAN	Y	54	ENSP00000361185:S54Y;ENSP00000438264:S54Y	ENSP00000361185:S54Y	S	-	2	0	LRIT2	85974800	0.998000	0.40836	0.264000	0.24511	0.677000	0.39632	2.636000	0.46545	0.360000	0.24265	0.585000	0.79938	TCT	LRIT2	-	NULL	ENSG00000204033		0.438	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	-	0	27	0	G	XM_291697		85984820	-1	tier1	-	no_errors	ENST00000538192	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.723	T	T	85984820	G	T	85984820	3	4	58	1	0	0	0	0	1	0	0	0	8983	942	33	3	1499	3	LRIT2	10	85984820	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3653561	85984820	49549927	1218	15601											
FAM190B	54462	genome.wustl.edu	37	chr10	86133433	86133433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtttcaccagatacagaCtacagagctggttcttcgtt	9	14	9	9	1	2	3	1	0	1	3	3	3	2	3	1	2	3	4	1	2	2	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:86133433C>A	ENST00000224756.8	+	3	1661	c.1476C>A	c.(1474-1476)gaC>gaA	p.D492E	CCSER2_ENST00000372088.2_Missense_Mutation_p.D492E|CCSER2_ENST00000359979.4_Missense_Mutation_p.D492E	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	492					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CAGATACAGACTACAGAGCTG	0.388																																																	0													99	91	94					10																	86133433		2203	4299	6502	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1476C>A	10.37:g.86133433C>A	ENSP00000224756:p.Asp492Glu		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.D492E	ENST00000224756.8	37	c.1476	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596057	0.66332	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.58797	0.31;1.8;1.75	5.14	0.0479	0.14282	.	0.068275	0.56097	D	0.000032	T	0.66538	0.2799	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.998;0.994;1.0	D;P;D	0.83275	0.921;0.759;0.996	T	0.62177	-0.6909	10	0.52906	T	0.07	-11.5949	8.6268	0.33895	0.0:0.3144:0.0:0.6856	.	492;492;492	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	E	492	ENSP00000353068:D492E;ENSP00000224756:D492E;ENSP00000361160:D492E	ENSP00000224756:D492E	D	+	3	2	FAM190B	86123413	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	0.704000	0.25661	-0.256000	0.09473	-0.237000	0.12165	GAC	CCSER2	-	NULL	ENSG00000107771		0.388	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2	-	0	52	0	C	NM_018999		86133433	1	tier1	-	no_errors	ENST00000372088	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	A	A	86133433	C	A	86133433	3	1	58	1	0	0	0	0	1	0	0	0	5541	564	20	3	1482	3	FAM190B	10	86133433	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	148613	86133433	49401314	1219	15602											
OPN4	94233	genome.wustl.edu	37	chr10	88421075	88421075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccctacatgagctcggtgCcagccgtcatcgccaaggcc	8	6	10	17	3	1	1	1	1	0	0	3	1	1	1	5	2	4	1	5	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:88421075C>T	ENST00000241891.5	+	7	1170	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	OPN4_ENST00000372071.2_Missense_Mutation_p.P346S	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	335					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGCTCGGTGCCAGCCGTCAT	0.577																																																	0													241	168	193					10																	88421075		2203	4300	6503	SO:0001583	missense	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1003C>T	10.37:g.88421075C>T	ENSP00000241891:p.Pro335Ser		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.P346S	ENST00000241891.5	37	c.1036	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975657	0.92919	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.71103	-0.54;-0.54;-0.54	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.064890	0.64402	D	0.000008	D	0.86908	0.6046	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.89118	0.3501	10	0.59425	D	0.04	.	18.3567	0.90359	0.0:1.0:0.0:0.0	.	346;335;346	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	S	346;335;346	ENSP00000361141:P346S;ENSP00000241891:P335S;ENSP00000393132:P346S	ENSP00000241891:P335S	P	+	1	0	OPN4	88411055	1.000000	0.71417	0.985000	0.45067	0.918000	0.54935	6.016000	0.70798	2.333000	0.79357	0.561000	0.74099	CCA	OPN4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	ENSG00000122375		0.577	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	-	0	35	0	C	NM_033282		88421075	1	tier1	-	no_errors	ENST00000372071	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	88421075	C	T	88421075	3	4	58	1	0	0	0	0	1	0	0	0	10921	739	26	3	1066	3	OPN4	10	88421075	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2287642	88421075	47113672	1220	15603											
SNCG	6623	genome.wustl.edu	37	chr10	88719881	88719881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctccggggtggtgcGcaaggtgagccccggccctc	4	6	16	15	3	1	1	1	1	0	0	3	1	2	1	5	6	2	1	5	6	1	0	rs371074090		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:88719881G>T	ENST00000372017.3	+	3	329	c.287G>T	c.(286-288)cGc>cTc	p.R96L	MMRN2_ENST00000372027.5_5'Flank|SNCG_ENST00000348795.4_Silent_p.A113A|SNCG_ENST00000483064.1_3'UTR	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	96					adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						GGGGTGGTGCGCAAGGTGAGC	0.672																																																	0													69	62	65					10																	88719881		2203	4300	6503	SO:0001583	missense	0			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"synoretin"	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.287G>T	10.37:g.88719881G>T	ENSP00000361087:p.Arg96Leu		O15104|Q96P61	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma	p.R96L	ENST00000372017.3	37	c.287	CCDS7380.1	10	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605031	0.66445	.	.	ENSG00000173267	ENST00000372017	D	0.84070	-1.8	4.69	2.8	0.32819	.	0.229092	0.39834	N	0.001257	T	0.77994	0.4214	L	0.57536	1.79	0.09310	N	1	P	0.37038	0.579	B	0.38803	0.282	T	0.70680	-0.4805	10	0.87932	D	0	-19.0272	6.2121	0.20636	0.3986:0.0:0.6014:0.0	.	96	O76070	SYUG_HUMAN	L	96	ENSP00000361087:R96L	ENSP00000361087:R96L	R	+	2	0	SNCG	88709861	0.008000	0.16893	0.995000	0.50966	0.932000	0.56968	0.753000	0.26376	0.561000	0.29186	0.561000	0.74099	CGC	SNCG	-	pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma	ENSG00000173267		0.672	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	-	0	43	0	G			88719881	1	tier1	-	no_errors	ENST00000372017	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.052	T	T	88719881	G	T	88719881	3	4	58	1	0	0	0	0	1	0	0	0	14888	1087	38	2	297	2	SNCG	10	88719881	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	298806	88719881	46814866	1221	15604											
LIPF	8513	genome.wustl.edu	37	chr10	90429680	90429680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagcagctacactatgttgGccattcccagggcaccacca	11	7	9	14	0	0	0	0	0	0	0	1	1	1	0	4	2	3	4	4	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:90429680G>T	ENST00000238983.4	+	5	555	c.509G>T	c.(508-510)gGc>gTc	p.G170V	LIPF_ENST00000355843.2_Missense_Mutation_p.G147V|LIPF_ENST00000608620.1_Missense_Mutation_p.G137V|LIPF_ENST00000394375.3_Missense_Mutation_p.G180V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	170					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CACTATGTTGGCCATTCCCAG	0.433																																																	0													220	204	210					10																	90429680		2203	4300	6503	SO:0001583	missense	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.509G>T	10.37:g.90429680G>T	ENSP00000238983:p.Gly170Val		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.G180V	ENST00000238983.4	37	c.539	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638785	0.67130	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	D;D;D	0.93659	-3.26;-3.26;-3.26	5.24	5.24	0.73138	Alpha/beta hydrolase fold-1 (1);	0.000000	0.56097	D	0.000027	D	0.98283	0.9431	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.99494	1.0951	10	0.87932	D	0	-10.4813	17.7661	0.88478	0.0:0.0:1.0:0.0	.	137;180;147;170	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	180;170;137	ENSP00000377900:G180V;ENSP00000238983:G170V;ENSP00000348101:G137V	ENSP00000238983:G170V	G	+	2	0	LIPF	90419660	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	7.286000	0.78671	2.718000	0.92993	0.650000	0.86243	GGC	LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.433	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	-	0	69	0	G			90429680	1	tier1	-	no_errors	ENST00000394375	ensembl	human	known	74_37	missense	5.56	84	5	SNP	1.000	T	T	90429680	G	T	90429680	3	4	58	1	0	0	0	0	1	0	0	0	8852	1203	42	3	523	3	LIPF	10	90429680	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1709799	90429680	45105067	1222	15605											
LIPF	8513	genome.wustl.edu	37	chr10	90438259	90438259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccaattgcagtgtggaacGgtggcaaggacctgttggct	9	10	14	8	1	0	0	0	0	0	0	0	2	0	2	2	5	3	4	2	5	4	3	rs200980006		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:90438259G>T	ENST00000238983.4	+	10	1064	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	LIPF_ENST00000355843.2_Missense_Mutation_p.G317C|LIPF_ENST00000608620.1_Missense_Mutation_p.G307C|LIPF_ENST00000394375.3_Missense_Mutation_p.G350C	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	340					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	AGTGTGGAACGGTGGCAAGGA	0.448																																																	0													204	187	193					10																	90438259		2203	4300	6503	SO:0001583	missense	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1018G>T	10.37:g.90438259G>T	ENSP00000238983:p.Gly340Cys		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.G350C	ENST00000238983.4	37	c.1048	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608652	0.66558	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	D;D;D	0.82893	-1.66;-1.66;-1.66	5.01	5.01	0.66863	Alpha/beta hydrolase fold-1 (1);	0.118039	0.38605	N	0.001630	D	0.94574	0.8252	H	0.99325	4.515	0.48040	D	0.999576	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.95445	0.8529	10	0.87932	D	0	-10.8562	11.6603	0.51343	0.0853:0.0:0.9147:0.0	.	307;350;317;340	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	C	350;340;307	ENSP00000377900:G350C;ENSP00000238983:G340C;ENSP00000348101:G307C	ENSP00000238983:G340C	G	+	1	0	LIPF	90428239	1.000000	0.71417	0.024000	0.17045	0.014000	0.08584	5.815000	0.69215	2.770000	0.95276	0.655000	0.94253	GGT	LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.448	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	-	0	145	0	G			90438259	1	tier1	-	no_errors	ENST00000394375	ensembl	human	known	74_37	missense	35.20	81	44	SNP	0.860	T	T	90438259	G	T	90438259	3	4	58	1	0	0	0	0	1	0	0	0	8852	1116	39	2	1052	2	LIPF	10	90438259	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8579	90438259	45096488	1223	15606											
STAMBPL1	57559	genome.wustl.edu	37	chr10	90676487	90676487	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtgccaaagcagtctgcGggaccagactattgtgacat	11	10	11	9	1	1	2	0	1	1	1	1	3	1	3	2	1	3	1	2	1	2	3	rs183704316		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:90676487G>T	ENST00000371926.3	+	8	1912	c.954G>T	c.(952-954)gcG>gcT	p.A318A	STAMBPL1_ENST00000371927.3_Silent_p.A318A|STAMBPL1_ENST00000371922.1_Silent_p.A152A|STAMBPL1_ENST00000371924.1_Silent_p.A318A	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	318	MPN.					membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGCAGTCTGCGGGACCAGACT	0.373																																																	0													168	155	159					10																	90676487		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"associated molecule with the SH3 domain of STAM (AMSH) like protein", "associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.954G>T	10.37:g.90676487G>T			B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.A318	ENST00000371926.3	37	c.954	CCDS7391.1	10																																																																																			STAMBPL1	-	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	ENSG00000138134		0.373	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBPL1	HGNC	protein_coding	OTTHUMT00000049283.1	-	0	51	0	G	NM_020799		90676487	1	tier1	-	no_errors	ENST00000371927	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.002	T	T	90676487	G	T	90676487	2	4	58	1	0	0	0	0	0	0	0	1	15298	1103	39	2		2	STAMBPL1	10	90676487	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	238228	90676487	44858260	1224	15607											
SLC16A12	387700	genome.wustl.edu	37	chr10	91196023	91196023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggcagagatagcagagcCcatccattcccacggcaaag	13	4	12	12	1	0	2	0	0	0	2	2	4	2	3	3	3	2	3	3	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:91196023C>A	ENST00000341233.4	-	7	1382	c.992G>T	c.(991-993)gGg>gTg	p.G331V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.G361V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ATAGCAGAGCCCATCCATTCC	0.458																																																	0													131	114	120					10																	91196023		2203	4300	6503	SO:0001583	missense	0				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"Solute carriers"	23094	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 12"	611910	"solute carrier family 16 (monocarboxylic acid transporters), member 12", "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.992G>T	10.37:g.91196023C>A	ENSP00000343022:p.Gly331Val		Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G361V	ENST00000341233.4	37	c.1082		10	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395825	0.83011	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.81163	-1.46;-1.46	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.102807	0.64402	D	0.000002	D	0.89511	0.6736	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89846	0.4006	10	0.59425	D	0.04	.	13.9766	0.64277	0.1513:0.8487:0.0:0.0	.	331	Q6ZSM3	MOT12_HUMAN	V	331;361	ENSP00000343022:G331V;ENSP00000360855:G361V	ENSP00000343022:G331V	G	-	2	0	SLC16A12	91186003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.930000	0.70104	2.746000	0.94184	0.591000	0.81541	GGG	SLC16A12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000152779		0.458	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	SLC16A12	HGNC	protein_coding		-	0	34	0	C	NM_213606		91196023	-1	tier1	-	no_errors	ENST00000371790	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A	A	91196023	C	A	91196023	3	1	58	1	0	0	0	0	1	0	0	0	14450	623	22	3	476	3	SLC16A12	10	91196023	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	519536	91196023	44338724	1225	15608											
KIF20B	9585	genome.wustl.edu	37	chr10	91497987	91497987	+	Frame_Shift_Del	DEL	A	A	-																															gctgaaagaagaattgcaagAaaaaaatgttactcttgatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:91497987delA	ENST00000371728.3	+	20	3454	c.3389delA	c.(3388-3390)gaafs	p.E1130fs	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Frame_Shift_Del_p.E1130fs|KIF20B_ENST00000260753.4_Frame_Shift_Del_p.E1090fs|KIF20B_ENST00000416354.1_Frame_Shift_Del_p.E1160fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1130					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAATTGCAAGAAAAAAATGTT	0.338																																																	0													62	71	68					10																	91497987		2202	4296	6498	SO:0001589	frameshift_variant	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3389delA	10.37:g.91497987delA	ENSP00000360793:p.Glu1130fs		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N1162fs	ENST00000371728.3	37	c.3479		10																																																																																			KIF20B	-	NULL	ENSG00000138182		0.338	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1		0	26	0	A	NM_016195		91497987	1	tier1		no_errors	ENST00000416354	ensembl	human	known	74_37	frame_shift_del	34.38	21	11	DEL	0.300	-	-	91497987	A	-	91497987	7	5	58	1	0	1	0	1	0	0	0	0	8314	246	9	0	3343	0	KIF20B	10	91497987	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	301964	91497987	44036760	1226	15609											
CYP2C9	1559	genome.wustl.edu	37	chr10	96740985	96740985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattggcagaaaccggaGcccctgcatgcaagacagga	12	6	13	10	1	0	3	0	1	0	2	0	5	0	5	3	3	4	3	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:96740985G>T	ENST00000260682.6	+	7	1019	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	336					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGAAACCGGAGCCCCTGCATG	0.498																																					Ovarian(54;1266 1406 16072 35076)												0													172	150	157					10																	96740985		2203	4300	6503	SO:0001583	missense	0			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"Cytochrome P450s"	2623	protein-coding gene	gene with protein product		601130	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1007G>T	10.37:g.96740985G>T	ENSP00000260682:p.Ser336Ile		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S336I	ENST00000260682.6	37	c.1007	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	1.462	-0.562065	0.03939	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69806	-0.43	3.78	1.75	0.24633	.	0.422132	0.21680	U	0.070740	T	0.45135	0.1327	L	0.33668	1.02	0.27825	N	0.941664	P;P	0.35272	0.493;0.493	B;B	0.26693	0.072;0.072	T	0.27088	-1.0084	10	0.17832	T	0.49	.	7.8134	0.29245	0.0:0.1782:0.6379:0.1839	.	336;336	Q5VX92;P11712	.;CP2C9_HUMAN	I	336	ENSP00000260682:S336I	ENSP00000260682:S336I	S	+	2	0	CYP2C9	96730975	0.901000	0.30685	0.977000	0.42913	0.215000	0.24574	1.840000	0.39230	0.328000	0.23435	0.305000	0.20034	AGC	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138109		0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1		0	92	0	G	NM_000771		96740985	1			no_errors	ENST00000260682	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.928	T	T	96740985	G	T	96740985	3	4	58	1	0	0	0	0	1	0	0	0	4177	971	34	3	1033	3	CYP2C9	10	96740985	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5242998	96740985	38793762	1227	15610											
BLNK	29760	genome.wustl.edu	37	chr10	97969609	97969609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacccggcccgtggcaacGgggatggtgcagctggtgga	6	7	17	11	3	0	0	0	0	0	0	0	2	0	2	2	7	4	3	2	7	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:97969609G>A	ENST00000224337.5	-	9	872	c.731C>T	c.(730-732)cCg>cTg	p.P244L	BLNK_ENST00000413476.2_Missense_Mutation_p.P244L|BLNK_ENST00000371176.2_Missense_Mutation_p.P221L|BLNK_ENST00000427367.2_Missense_Mutation_p.P244L	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	244	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCGTGGCAACGGGGATGGTGC	0.562																																																	0													153	149	150					10																	97969609		2203	4300	6503	SO:0001583	missense	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.731C>T	10.37:g.97969609G>A	ENSP00000224337:p.Pro244Leu		O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.P244L	ENST00000224337.5	37	c.731	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615717	0.46631	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.62	5.62	0.85841	.	0.047441	0.85682	N	0.000000	T	0.77824	0.4188	M	0.70275	2.135	0.52099	D	0.999942	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999	D;P;D;D;D;P	0.91635	0.999;0.811;0.999;0.999;0.998;0.636	T	0.76916	-0.2782	9	0.46703	T	0.11	-18.8044	15.5185	0.75846	0.0:0.0:1.0:0.0	.	221;244;221;139;221;244	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	L	244;221;244;244;139	.	ENSP00000224337:P244L	P	-	2	0	BLNK	97959599	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	4.342000	0.59341	2.818000	0.97014	0.655000	0.94253	CCG	BLNK	-	NULL	ENSG00000095585		0.562	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0	67	0	G	NM_013314		97969609	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A	A	97969609	G	A	97969609	3	1	58	1	0	0	0	0	1	0	0	0	1449	1116	39	1	675	1	BLNK	10	97969609	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1228624	97969609	37565138	1228	15611											
CHUK	1147	genome.wustl.edu	37	chr10	101953783	101953783	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatttctttctgccttttTccctgcatgaacatgacagt	8	17	5	11	0	2	2	0	2	2	0	3	2	3	2	2	0	3	1	2	0	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:101953783T>C	ENST00000370397.7	-	18	2018	c.1932A>G	c.(1930-1932)ggA>ggG	p.G644G	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	644					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TCTGCCTTTTTCCCTGCATGA	0.363																																					Ovarian(159;52 1904 10536 35305 37148)												0													109	102	105					10																	101953783		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1932A>G	10.37:g.101953783T>C			O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G644	ENST00000370397.7	37	c.1932	CCDS7488.1	10																																																																																			CHUK	-	NULL	ENSG00000213341		0.363	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	-	0	64	0	T	NM_001278		101953783	-1	tier1	-	no_errors	ENST00000370397	ensembl	human	known	74_37	silent	37.36	57	34	SNP	1.000	C	C	101953783	T	C	101953783	2	2	58	1	0	0	0	0	0	0	0	1	3423	1770	62	4		4	CHUK	10	101953783	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3984174	101953783	33580964	1229	15612											
SCD	6319	genome.wustl.edu	37	chr10	102107979	102107979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccccacctacaaggataaGgaaggcccaagccccaaggt	14	3	10	14	0	0	0	0	0	0	0	0	3	0	2	6	4	2	0	6	4	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:102107979G>T	ENST00000370355.2	+	2	567	c.186G>T	c.(184-186)aaG>aaT	p.K62N	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	62					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		ACAAGGATAAGGAAGGCCCAA	0.458																																					Colon(67;260 1459 9574 11663)												0													140	139	139					10																	102107979		2203	4300	6503	SO:0001583	missense	0			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.186G>T	10.37:g.102107979G>T	ENSP00000359380:p.Lys62Asn		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.K62N	ENST00000370355.2	37	c.186	CCDS7493.1	10	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676658	0.29783	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	T	0.15139	2.45	5.11	-1.42	0.08913	.	0.538685	0.17714	N	0.164477	T	0.14614	0.0353	M	0.68728	2.09	0.33568	D	0.598276	B	0.22683	0.073	B	0.26094	0.066	T	0.08576	-1.0715	10	0.45353	T	0.12	-9.287	2.2227	0.03976	0.4055:0.1189:0.3543:0.1213	.	62	O00767	ACOD_HUMAN	N	62	ENSP00000359380:K62N	ENSP00000359380:K62N	K	+	3	2	SCD	102097969	0.999000	0.42202	0.507000	0.27676	0.528000	0.34623	0.614000	0.24314	-0.215000	0.10063	0.561000	0.74099	AAG	SCD	-	NULL	ENSG00000099194		0.458	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD	HGNC	protein_coding	OTTHUMT00000049857.2	-	0	71	0	G	NM_005063		102107979	1	tier1	-	no_errors	ENST00000370355	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.996	T	T	102107979	G	T	102107979	3	4	58	1	0	0	0	0	1	0	0	0	13931	991	35	3	192	3	SCD	10	102107979	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	154196	102107979	33426768	1230	15613											
PDZD7	79955	genome.wustl.edu	37	chr10	102778605	102778605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcagatagctctgggagCgcgtgatggggggccggggt	6	7	21	7	3	2	2	1	1	1	1	2	3	2	3	1	7	2	1	1	7	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:102778605C>T	ENST00000370215.3	-	8	1523	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	433						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCTCTGGGAGCGCGTGATGGG	0.677											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1298G>A	10.37:g.102778605C>T	ENSP00000359234:p.Arg433His	1369	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R433H	ENST00000370215.3	37	c.1298	CCDS31269.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.524146|5.524146	0.96431|0.96431	.|.	.|.	ENSG00000186862|ENSG00000186862	ENST00000433616|ENST00000393462;ENST00000370215	.|T	.|0.44881	.|0.91	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.171040	.|0.32593	.|N	.|0.005889	T|T	0.65238|0.65238	0.2672|0.2672	M|M	0.66939|0.66939	2.045|2.045	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.68209|0.68209	-0.5469|-0.5469	5|10	.|0.87932	.|D	.|0	.|.	18.977|18.977	0.92742|0.92742	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|433;433	.|Q9H5P4;Q9H5P4-2	.|PDZD7_HUMAN;.	T|H	8|433	.|ENSP00000359234:R433H	.|ENSP00000359234:R433H	A|R	-|-	1|2	0|0	PDZD7|PDZD7	102768595|102768595	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.904000|0.904000	0.53231|0.53231	7.238000|7.238000	0.78173|0.78173	2.482000|2.482000	0.83794|0.83794	0.561000|0.561000	0.74099|0.74099	GCT|CGC	PDZD7	-	NULL	ENSG00000186862		0.677	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	-	0	77	0	C	NM_024895		102778605	-1	tier1	-	no_errors	ENST00000370215	ensembl	human	known	74_37	missense	42.86	28	21	SNP	0.998	T	T	102778605	C	T	102778605	3	4	58	1	0	0	0	0	1	0	0	0	11743	768	27	1	267	1	PDZD7	10	102778605	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	670626	102778605	32756142	1231	15614											
PDZD7	79955	genome.wustl.edu	37	chr10	102783244	102783244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacacggcccatgcgcCgaaccatcatgtgcaggcgg	8	4	13	16	5	1	0	1	0	0	0	1	1	1	0	4	4	3	2	4	4	1	0	rs551318046		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:102783244C>T	ENST00000370215.3	-	4	716	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PDZD7_ENST00000470414.1_Missense_Mutation_p.R164Q	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	164	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCCCATGCGCCGAACCATCAT	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		17411	0		0	False		,,,				2504	0																0													63	55	58					10																	102783244		2203	4300	6503	SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.491G>A	10.37:g.102783244C>T	ENSP00000359234:p.Arg164Gln		D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R164Q	ENST00000370215.3	37	c.491	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.328302	0.95733	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.17213	2.29	5.05	5.05	0.67936	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	P;D	0.83275	0.823;0.996	T	0.04752	-1.0929	10	0.42905	T	0.14	.	18.39	0.90479	0.0:1.0:0.0:0.0	.	164;164	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	Q	164	ENSP00000359234:R164Q	ENSP00000359234:R164Q	R	-	2	0	PDZD7	102773234	0.951000	0.32395	0.897000	0.35233	0.812000	0.45895	7.749000	0.85096	2.337000	0.79520	0.561000	0.74099	CGG	PDZD7	-	superfamily_PDZ,smart_PDZ	ENSG00000186862		0.627	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	-	0	48	0	C	NM_024895		102783244	-1	tier1	-	no_errors	ENST00000370215	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.997	T	T	102783244	C	T	102783244	3	4	58	1	0	0	0	0	1	0	0	0	11743	652	23	1	1090	1	PDZD7	10	102783244	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4639	102783244	32751503	1232	15615											
C10orf76	79591	genome.wustl.edu	37	chr10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaaaaaaccactttGgtgttcttcttccttgtctt	10	15	7	9	0	3	1	0	0	3	1	4	2	4	1	2	1	2	2	2	1	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											125	124	124					10																	103771512		1823	4079	5902	SO:0001583	missense	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	C10orf76	-	superfamily_ARM-type_fold	ENSG00000120029		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0	42	0	G	NM_024541		103771512	-1	tier1	-	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T	T	103771512	G	T	103771512	3	4	58	1	0	0	0	0	1	0	0	0	1621	1357	47	3	1334	3	C10orf76	10	103771512	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	988268	103771512	31763235	1233	15616											
HPS6	79803	genome.wustl.edu	37	chr10	103826768	103826768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaccgttttccaagccCttcctacagcagcctggggt	8	10	8	15	1	1	0	1	0	0	0	3	0	3	0	5	2	5	2	5	2	3	4	rs143026366		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:103826768C>A	ENST00000299238.5	+	1	1622	c.1537C>A	c.(1537-1539)Ctt>Att	p.L513I		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	513					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTTCCAAGCCCTTCCTACAGC	0.607									Hermansky-Pudlak syndrome																																								0													55	58	57					10																	103826768		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1537C>A	10.37:g.103826768C>A	ENSP00000299238:p.Leu513Ile		Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.L513I	ENST00000299238.5	37	c.1537	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	C	6.721	0.501833	0.12822	.	.	ENSG00000166189	ENST00000299238	T	0.79454	-1.27	4.79	-0.651	0.11454	.	0.119187	0.56097	D	0.000023	T	0.63733	0.2536	L	0.44542	1.39	0.22050	N	0.999394	B	0.17268	0.021	B	0.17979	0.02	T	0.54377	-0.8303	10	0.56958	D	0.05	-3.5023	4.6745	0.12705	0.0:0.262:0.18:0.558	.	513	Q86YV9	HPS6_HUMAN	I	513	ENSP00000299238:L513I	ENSP00000299238:L513I	L	+	1	0	HPS6	103816758	0.964000	0.33143	0.052000	0.19188	0.479000	0.33129	1.870000	0.39529	0.005000	0.14708	-0.215000	0.12644	CTT	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit	ENSG00000166189		0.607	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	-	0	56	0	C	NM_024747		103826768	1	tier1	-	no_errors	ENST00000299238	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.292	A	A	103826768	C	A	103826768	3	1	58	1	0	0	0	0	1	0	0	0	7370	681	24	3	1539	3	HPS6	10	103826768	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	55256	103826768	31707979	1234	15617											
GBF1	8729	genome.wustl.edu	37	chr10	104136853	104136853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgatgaggacgaaggcGtgcctgccagctaccatacg	11	7	13	10	3	0	3	0	3	0	0	0	5	0	4	3	2	5	1	3	2	3	2	rs373502588		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104136853G>A	ENST00000369983.3	+	33	4707	c.4447G>A	c.(4447-4449)Gtg>Atg	p.V1483M		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1483					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V1483L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGACGAAGGCGTGCCTGCCAG	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)						G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	120	116	117		4450,4447,4447	5	1	10		117	0,8600		0,0,4300	no	missense,missense,missense	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1484/1857,1483/1856,1483/1860	104136853	1,13005	2203	4300	6503	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"golgi-specific brefeldin A resistance factor 1"			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4447G>A	10.37:g.104136853G>A	ENSP00000359000:p.Val1483Met		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.V1483M	ENST00000369983.3	37	c.4447	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889870	0.72524	2.27E-4	0.0	ENSG00000107862	ENST00000369983	T	0.10860	2.83	4.96	4.96	0.65561	.	0.056495	0.64402	D	0.000001	T	0.16128	0.0388	L	0.51422	1.61	0.51767	D	0.999936	D;P;P	0.54964	0.969;0.934;0.902	P;P;B	0.48840	0.592;0.587;0.441	T	0.00260	-1.1869	10	0.54805	T	0.06	-14.5452	12.2249	0.54455	0.0885:0.0:0.9115:0.0	.	1483;1483;1483	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	M	1483	ENSP00000359000:V1483M	ENSP00000359000:V1483M	V	+	1	0	GBF1	104126843	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.344000	0.79328	2.564000	0.86499	0.561000	0.74099	GTG	GBF1	-	NULL	ENSG00000107862		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	-	0	57	0	G			104136853	1	tier1	-	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	44.44	25	20	SNP	0.999	A	A	104136853	G	A	104136853	3	1	58	1	0	0	0	0	1	0	0	0	6296	1145	40	1	4573	1	GBF1	10	104136853	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	310085	104136853	31397894	1235	15618											
TMEM180	79847	genome.wustl.edu	37	chr10	104235656	104235656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacctggtcccagttcaCgctgcatgggagacgcctgc	6	9	11	15	2	2	1	2	0	0	1	3	2	3	1	3	2	2	3	3	2	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104235656C>T	ENST00000238936.4	+	10	1706	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	TMEM180_ENST00000366277.2_Missense_Mutation_p.T219M	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	490						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCCAGTTCACGCTGCATGGG	0.622																																																	0													36	31	33					10																	104235656		2203	4300	6503	SO:0001583	missense	0			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1469C>T	10.37:g.104235656C>T	ENSP00000238936:p.Thr490Met		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.T490M	ENST00000238936.4	37	c.1469	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	c	17.70	3.454103	0.63290	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.82	4.82	0.62117	.	0.094859	0.64402	D	0.000001	T	0.75845	0.3905	M	0.67953	2.075	0.47341	D	0.999392	D	0.89917	1.0	D	0.68483	0.958	T	0.77330	-0.2628	9	0.52906	T	0.07	.	14.9649	0.71184	0.0:0.8464:0.1536:0.0	.	490	Q14CX5	TM180_HUMAN	M	219;490;219	.	ENSP00000238936:T490M	T	+	2	0	TMEM180	104225646	0.997000	0.39634	0.966000	0.40874	0.758000	0.43043	3.305000	0.51873	2.406000	0.81754	0.306000	0.20318	ACG	TMEM180	-	NULL	ENSG00000138111		0.622	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	-	0	49	0	C	NM_024789		104235656	1	tier1	-	no_errors	ENST00000238936	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.993	T	T	104235656	C	T	104235656	3	4	58	1	0	0	0	0	1	0	0	0	16146	536	19	1	1499	1	TMEM180	10	104235656	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	98803	104235656	31299091	1236	15619											
TRIM8	81603	genome.wustl.edu	37	chr10	104414960	104414960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggccaagttctgcagcGagaacgcagcgcaggcgctg	9	4	14	14	4	1	1	0	0	1	1	1	2	1	1	2	2	4	5	2	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104414960G>A	ENST00000302424.7	+	3	912	c.790G>A	c.(790-792)Gag>Aag	p.E264K	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	264					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTCTGCAGCGAGAACGCAGC	0.627																																																	0													56	53	54					10																	104414960		2203	4300	6503	SO:0001583	missense	0			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.790G>A	10.37:g.104414960G>A	ENSP00000302120:p.Glu264Lys		A6NI31|Q9C028	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E264K	ENST00000302424.7	37	c.790	CCDS31274.1	10	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335867	0.60853	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.60299	0.2	5.55	5.55	0.83447	.	0.053328	0.85682	D	0.000000	T	0.44644	0.1303	L	0.27053	0.805	0.80722	D	1	B	0.30605	0.287	B	0.19148	0.024	T	0.31251	-0.9950	10	0.22109	T	0.4	.	19.5099	0.95137	0.0:0.0:1.0:0.0	.	264	Q9BZR9	TRIM8_HUMAN	K	264;263	ENSP00000302120:E264K	ENSP00000302120:E264K	E	+	1	0	TRIM8	104404950	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.369000	0.97156	2.627000	0.88993	0.561000	0.74099	GAG	TRIM8	-	NULL	ENSG00000171206		0.627	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM8	HGNC	protein_coding	OTTHUMT00000050084.3	-	0	67	0	G	NM_030912		104414960	1	tier1	-	no_errors	ENST00000302424	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	A	A	104414960	G	A	104414960	3	1	58	1	0	0	0	0	1	0	0	0	16596	1059	37	1	800	1	TRIM8	10	104414960	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	179304	104414960	31119787	1237	15620											
CNNM2	54805	genome.wustl.edu	37	chr10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-																															cgtggatcccgatgactgtaCccccctgaaaaccatcacca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104679763delC	ENST00000369878.4	+	1	1714	c.1526delC	c.(1525-1527)accfs	p.T509fs	CNNM2_ENST00000433628.2_Frame_Shift_Del_p.T509fs|CNNM2_ENST00000369875.3_Frame_Shift_Del_p.T509fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	509	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GATGACTGTACCCCCCTGAAA	0.488																																																	0													124	132	129					10																	104679763		2203	4300	6503	SO:0001589	frameshift_variant	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1526delC	10.37:g.104679763delC	ENSP00000358894:p.Thr509fs		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Del	DEL	pfam_DUF21,superfamily_cNMP-bd-like	p.L511fs	ENST00000369878.4	37	c.1526	CCDS44474.1	10																																																																																			CNNM2	-	NULL	ENSG00000148842		0.488	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3		0	88	0	C	NM_017649		104679763	1	tier1		no_errors	ENST00000369878	ensembl	human	known	74_37	frame_shift_del	53.73	31	36	DEL	1.000	-	-	104679763	C	-	104679763	7	5	58	1	0	1	0	1	0	0	0	0	3620	507	18	0	1528	0	CNNM2	10	104679763	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	264803	104679763	30854984	1238	15621											
ITPRIP	85450	genome.wustl.edu	37	chr10	106074319	106074319	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaagaggttgaggggctcGgccctgagcacggcctcagg	7	5	18	11	3	1	3	1	2	0	1	2	4	1	4	2	7	1	3	2	7	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:106074319G>A	ENST00000337478.1	-	2	1662	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.A497A|ITPRIP_ENST00000358187.2_Silent_p.A497A	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	497						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAGGGGCTCGGCCCTGAGCA	0.592																																																	0													67	68	67					10																	106074319		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1491C>T	10.37:g.106074319G>A			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	NULL	p.A497	ENST00000337478.1	37	c.1491	CCDS7557.1	10																																																																																			ITPRIP	-	NULL	ENSG00000148841		0.592	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0	31	0	G	NM_033397		106074319	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	silent	34.29	23	12	SNP	0.922	A	A	106074319	G	A	106074319	2	1	58	1	0	0	0	0	0	0	0	1	7950	1103	39	1		1	ITPRIP	10	106074319	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1394556	106074319	29460428	1239	15622											
DUSP5	1847	genome.wustl.edu	37	chr10	112266859	112266859	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggatccctgtggaagAcagccacacggctgacatta	13	7	10	11	1	0	2	0	1	0	1	1	4	1	4	2	3	1	1	2	3	3	1	rs147368172		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:112266859A>G	ENST00000369583.3	+	3	979	c.695A>G	c.(694-696)gAc>gGc	p.D232G	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	232	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCTGTGGAAGACAGCCACACG	0.542																																																	0													139	141	140					10																	112266859		2203	4300	6503	SO:0001583	missense	0			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.695A>G	10.37:g.112266859A>G	ENSP00000358596:p.Asp232Gly		Q12997|Q5T603	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.D232G	ENST00000369583.3	37	c.695	CCDS7566.1	10	.	.	.	.	.	.	.	.	.	.	A	32	5.111375	0.94339	.	.	ENSG00000138166	ENST00000369583	T	0.73363	-0.74	5.63	5.63	0.86233	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92831	0.7720	H	0.99867	4.865	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95943	0.8948	10	0.87932	D	0	.	15.0207	0.71630	1.0:0.0:0.0:0.0	.	232	Q16690	DUS5_HUMAN	G	232	ENSP00000358596:D232G	ENSP00000358596:D232G	D	+	2	0	DUSP5	112256849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	GAC	DUSP5	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	ENSG00000138166		0.542	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP5	HGNC	protein_coding	OTTHUMT00000050333.1	-	0	51	0	A	NM_004419		112266859	1	tier1	-	no_errors	ENST00000369583	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	G	G	112266859	A	G	112266859	3	3	58	1	0	0	0	0	1	0	0	0	4842	275	10	4	705	4	DUSP5	10	112266859	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	6192540	112266859	23267888	1240	15623											
ACSL5	51703	genome.wustl.edu	37	chr10	114181709	114181709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggtatgttctaggtcaCgttggggtgcccctggcttg	4	12	15	10	2	2	0	1	0	1	0	2	0	2	0	2	5	1	5	2	5	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:114181709C>T	ENST00000393081.1	+	16	1699	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Silent_p.H246H|ACSL5_ENST00000354655.4_Silent_p.H464H|ACSL5_ENST00000356116.1_Silent_p.H520H|ACSL5_ENST00000354273.4_Silent_p.H464H|ACSL5_ENST00000433418.1_Silent_p.H464H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	464					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTCTAGGTCACGTTGGGGTGC	0.443																																																	0													134	131	132					10																	114181709		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1392C>T	10.37:g.114181709C>T			A6GV77|D3DRB3|Q6UX44|Q9UIU4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.H520	ENST00000393081.1	37	c.1560	CCDS7573.1	10																																																																																			ACSL5	-	pfam_AMP-dep_Synth/Lig	ENSG00000197142		0.443	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	-	0	51	0	C	NM_016234		114181709	1	tier1	-	no_errors	ENST00000356116	ensembl	human	known	74_37	silent	33.33	28	14	SNP	0.893	T	T	114181709	C	T	114181709	2	4	58	1	0	0	0	0	0	0	0	1	180	535	19	1		1	ACSL5	10	114181709	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1914850	114181709	21353038	1241	15624											
TCF7L2	6934	genome.wustl.edu	37	chr10	114925542	114925542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccacccgccctcctgctCgctgaggccacccacaaggc	6	4	9	22	3	0	1	0	1	0	0	2	1	1	1	7	2	1	2	7	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:114925542C>T	ENST00000355995.4	+	15	2178	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L	TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.L534L|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.L540L|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.L557L|TCF7L2_ENST00000543371.1_Silent_p.L540L|TCF7L2_ENST00000542695.1_Silent_p.L273L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	557					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCTCCTGCTCGCTGAGGCCA	0.687			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													42	48	46					10																	114925542		2203	4299	6502	SO:0001819	synonymous_variant	0			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1671C>T	10.37:g.114925542C>T			B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.L557	ENST00000355995.4	37	c.1671		10																																																																																			TCF7L2	-	NULL	ENSG00000148737		0.687	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding			0	16	0	C	NM_030756		114925542	1			no_errors	ENST00000355995	ensembl	human	known	74_37	silent	37.50	10	6	SNP	0.981	T	T	114925542	C	T	114925542	2	4	58	1	0	0	0	0	0	0	0	1	15745	871	31	1		1	TCF7L2	10	114925542	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	743833	114925542	20609205	1242	15625											
ADRB1	153	genome.wustl.edu	37	chr10	115804315	115804315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtggacgtgctgtgcGtgacggccagcatcgagacc	7	7	14	13	4	1	2	1	1	0	1	2	4	1	3	3	2	3	2	3	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:115804315G>A	ENST00000369295.2	+	1	510	c.424G>A	c.(424-426)Gtg>Atg	p.V142M		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	142					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	CGTGCTGTGCGTGACGGCCAG	0.677																																																	0													98	111	107					10																	115804315		2203	4300	6503	SO:0001583	missense	0			J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"GPCR / Class A : Adrenoceptors : beta"	285	protein-coding gene	gene with protein product		109630	"adrenergic, beta-1-, receptor"	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.424G>A	10.37:g.115804315G>A	ENSP00000358301:p.Val142Met		B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt	p.V142M	ENST00000369295.2	37	c.424	CCDS7586.1	10	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852865	0.71719	.	.	ENSG00000043591	ENST00000369295	T	0.16743	2.32	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000003	T	0.41511	0.1162	M	0.73372	2.23	0.48901	D	0.999729	D	0.89917	1.0	D	0.87578	0.998	T	0.44605	-0.9317	10	0.62326	D	0.03	.	15.9365	0.79712	0.0:0.0:1.0:0.0	.	142	P08588	ADRB1_HUMAN	M	142	ENSP00000358301:V142M	ENSP00000358301:V142M	V	+	1	0	ADRB1	115794305	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	9.664000	0.98607	1.734000	0.51633	0.449000	0.29647	GTG	ADRB1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000043591		0.677	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB1	HGNC	protein_coding	OTTHUMT00000050448.1	-	0	121	0	G			115804315	1	tier1	-	no_errors	ENST00000369295	ensembl	human	known	74_37	missense	39.24	48	31	SNP	1.000	A	A	115804315	G	A	115804315	3	1	58	1	0	0	0	0	1	0	0	0	340	1145	40	1	426	1	ADRB1	10	115804315	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	878773	115804315	19730432	1243	15626											
TDRD1	56165	genome.wustl.edu	37	chr10	115963887	115963887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaaagaaggcacatgTcttatatattgattatggaa	16	11	9	5	0	1	2	0	1	1	1	1	3	1	3	0	2	1	3	0	2	8	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:115963887T>C	ENST00000369280.1	+	9	1497	c.1037T>C	c.(1036-1038)gTc>gCc	p.V346A	TDRD1_ENST00000369282.1_Missense_Mutation_p.V346A|TDRD1_ENST00000251864.2_Missense_Mutation_p.V346A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V346A|TDRD1_ENST00000422662.1_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	346	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGGCACATGTCTTATATATT	0.353																																																	0													112	106	108					10																	115963887		2203	4300	6503	SO:0001583	missense	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1037T>C	10.37:g.115963887T>C	ENSP00000358286:p.Val346Ala		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.V346A	ENST00000369280.1	37	c.1037		10	.	.	.	.	.	.	.	.	.	.	T	23.1	4.368978	0.82463	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	6.06	6.06	0.98353	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.266934	0.29431	N	0.012174	T	0.67571	0.2907	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	T	0.77616	-0.2521	10	0.87932	D	0	-15.1283	14.1325	0.65263	0.0:0.0:0.0:1.0	.	346;346;346;346	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	A	346	ENSP00000358288:V346A;ENSP00000251864:V346A;ENSP00000358287:V346A;ENSP00000358286:V346A	ENSP00000251864:V346A	V	+	2	0	TDRD1	115953877	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	6.372000	0.73123	2.324000	0.78689	0.533000	0.62120	GTC	TDRD1	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000095627		0.353	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	-	0	51	0	T			115963887	1	tier1	-	no_errors	ENST00000251864	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.950	C	C	115963887	T	C	115963887	3	2	58	1	0	0	0	0	1	0	0	0	15777	1667	58	4	1067	4	TDRD1	10	115963887	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	159572	115963887	19570860	1244	15627											
ABLIM1	3983	genome.wustl.edu	37	chr10	116205099	116205099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctcttcttgaagctgcCgacgtctcagaagttcctca	8	13	8	12	2	4	2	2	1	3	1	6	3	5	2	2	0	3	3	2	0	2	4	rs148624929		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:116205099C>T	ENST00000277895.5	-	16	1896	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	ABLIM1_ENST00000392952.3_Missense_Mutation_p.R277Q|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R223Q|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R277Q|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R540Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R540Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	600					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTGAAGCTGCCGACGTCTCAG	0.418																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	235	208	217		1619,1703,1799,830	6.1	1	10	dbSNP_134	217	0,8600		0,0,4300	no	missense,missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	43,43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	540/719,568/747,600/779,277/456	116205099	2,13004	2203	4300	6503	SO:0001583	missense	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1799G>A	10.37:g.116205099C>T	ENSP00000277895:p.Arg600Gln		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R600Q	ENST00000277895.5	37	c.1799	CCDS7590.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.013310|5.013310	0.93346|0.93346	4.54E-4|4.54E-4	0.0|0.0	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.29142	.|1.58;1.58;1.58;1.58	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.061947	.|0.64402	.|D	.|0.000005	T|T	0.52901|0.52901	0.1763|0.1763	M|M	0.75264|0.75264	2.295|2.295	0.52099|0.52099	D|D	0.999941|0.999941	.|P;P;D;P;B;D;B;P;P	.|0.65815	.|0.88;0.88;0.971;0.944;0.226;0.995;0.259;0.944;0.939	.|B;B;P;P;B;P;B;B;P	.|0.57152	.|0.122;0.173;0.586;0.449;0.018;0.814;0.038;0.279;0.657	T|T	0.49716|0.49716	-0.8910|-0.8910	5|10	.|0.52906	.|T	.|0.07	.|.	18.8526|18.8526	0.92238|0.92238	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|477;202;540;568;600;277;570;524;223	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	S|Q	474|600;540;277;223;568;540;668;524;277;524;477;668;352	.|ENSP00000358256:R540Q;ENSP00000376679:R277Q;ENSP00000433629:R540Q;ENSP00000358270:R277Q	.|ENSP00000277895:R668Q	G|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116195089|116195089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.705000|0.705000	0.40729|0.40729	4.184000|4.184000	0.58323|0.58323	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GGC|CGG	ABLIM1	-	NULL	ENSG00000099204		0.418	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	-	0	95	0	C			116205099	-1	tier1	rs148624929	no_errors	ENST00000277895	ensembl	human	known	74_37	missense	40.00	36	24	SNP	1.000	T	T	116205099	C	T	116205099	3	4	58	1	0	0	0	0	1	0	0	0	94	652	23	1	565	1	ABLIM1	10	116205099	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	241212	116205099	19329648	1245	15628											
HSPA12A	259217	genome.wustl.edu	37	chr10	118434562	118434562	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttggccggggtgtagctAcgcttgaccagctcacccag	6	8	14	13	2	1	1	1	1	0	0	1	1	1	1	3	4	3	5	3	4	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:118434562A>C	ENST00000369209.3	-	12	1862	c.1758T>G	c.(1756-1758)cgT>cgG	p.R586R	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	586						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGTGTAGCTACGCTTGACCA	0.567																																																	0													68	74	72					10																	118434562		2103	4209	6312	SO:0001819	synonymous_variant	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1758T>G	10.37:g.118434562A>C				Silent	SNP	NULL	p.R586	ENST00000369209.3	37	c.1758	CCDS41569.1	10																																																																																			HSPA12A	-	NULL	ENSG00000165868		0.567	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0	40	0	A	NM_025015		118434562	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.748	C	C	118434562	A	C	118434562	2	2	58	1	0	0	0	0	0	0	0	1	7431	378	14	4		4	HSPA12A	10	118434562	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2229463	118434562	17100185	1246	15629											
VAX1	11023	genome.wustl.edu	37	chr10	118893539	118893539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagtccagcgcttttttctCggccccttctttattgttgg	3	18	8	12	2	3	0	1	0	2	0	5	0	4	0	3	2	1	2	3	2	1	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:118893539C>T	ENST00000369206.5	-	3	984	c.985G>A	c.(985-987)Gag>Aag	p.E329K	VAX1_ENST00000277905.2_Intron	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	329					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GCTTTTTTCTCGGCCCCTTCT	0.473																																																	0													23	21	22					10																	118893539		692	1591	2283	SO:0001583	missense	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.985G>A	10.37:g.118893539C>T	ENSP00000358207:p.Glu329Lys		B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.E329K	ENST00000369206.5	37	c.985	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664438	0.47572	.	.	ENSG00000148704	ENST00000369206	D	0.92647	-3.08	4.22	4.22	0.49857	.	0.059568	0.64402	D	0.000003	D	0.84133	0.5405	L	0.36672	1.1	0.48341	D	0.99963	P	0.47545	0.897	B	0.29663	0.105	D	0.84072	0.0380	10	0.17832	T	0.49	-18.7432	16.7746	0.85548	0.0:1.0:0.0:0.0	.	329	Q5SQQ9	VAX1_HUMAN	K	329	ENSP00000358207:E329K	ENSP00000358207:E329K	E	-	1	0	VAX1	118883529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.511000	0.73733	2.169000	0.68431	0.313000	0.20887	GAG	VAX1	-	NULL	ENSG00000148704		0.473	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	-	0	54	0	C	XM_301242		118893539	-1	tier1	-	no_errors	ENST00000369206	ensembl	human	known	74_37	missense	48.15	28	26	SNP	1.000	T	T	118893539	C	T	118893539	3	4	58	1	0	0	0	0	1	0	0	0	17183	893	31	1	163	1	VAX1	10	118893539	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	458977	118893539	16641208	1247	15630											
EMX2	2018	genome.wustl.edu	37	chr10	119305214	119305214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccaagcggatccgaaccGccttctccccgtcccagctt	7	7	8	19	4	1	0	0	0	1	0	4	2	3	1	7	1	4	1	7	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:119305214G>A	ENST00000553456.3	+	2	1302	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	160					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GATCCGAACCGCCTTCTCCCC	0.592																																																	0													62	53	56					10																	119305214		2203	4300	6503	SO:0001583	missense	0			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.478G>A	10.37:g.119305214G>A	ENSP00000450962:p.Ala160Thr		G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.A160T	ENST00000553456.3	37	c.478	CCDS7601.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.291251	0.97449	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	N	0.17474	0.49	0.80722	D	1	D	0.65815	0.995	D	0.63877	0.919	T	0.64339	-0.6431	9	0.46703	T	0.11	-16.8962	20.2806	0.98513	0.0:0.0:1.0:0.0	.	160	Q04743	EMX2_HUMAN	T	160	.	ENSP00000358202:A160T	A	+	1	0	EMX2	119295204	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	GCC	EMX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000170370		0.592	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	-	0	88	0	G	NM_004098		119305214	1	tier1	-	no_errors	ENST00000553456	ensembl	human	known	74_37	missense	43.75	45	35	SNP	1.000	A	A	119305214	G	A	119305214	3	1	58	1	0	0	0	0	1	0	0	0	5124	1087	38	1	484	1	EMX2	10	119305214	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	411675	119305214	16229533	1248	15631											
C10orf84	63877	genome.wustl.edu	37	chr10	120095902	120095902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgtcactttcatttaggCcaggaggtagcagcccactc	9	9	10	13	1	2	0	2	0	0	0	3	1	2	1	2	3	3	2	2	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:120095902C>T	ENST00000369183.4	-	3	285	c.26G>A	c.(25-27)gGc>gAc	p.G9D	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.G9D	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	9										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						TTCATTTAGGCCAGGAGGTAG	0.388																																																	0													94	87	89					10																	120095902		2203	4299	6502	SO:0001583	missense	0			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 84"	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.26G>A	10.37:g.120095902C>T	ENSP00000358183:p.Gly9Asp		D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	NULL	p.G9D	ENST00000369183.4	37	c.26	CCDS7605.1	10	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250880	0.80135	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	5.93	5.04	0.67666	.	0.125415	0.53938	N	0.000060	T	0.66636	0.2809	L	0.53249	1.67	0.53688	D	0.999971	D	0.59767	0.986	P	0.58454	0.839	T	0.69045	-0.5249	9	0.59425	D	0.04	-4.2408	12.6395	0.56702	0.0:0.923:0.0:0.077	.	9	Q9H8W3	F204A_HUMAN	D	9	.	ENSP00000358168:G9D	G	-	2	0	FAM204A	120085892	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	2.090000	0.41682	1.542000	0.49330	-0.126000	0.14955	GGC	FAM204A	-	NULL	ENSG00000165669		0.388	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM204A	HGNC	protein_coding	OTTHUMT00000050596.2	-	0	76	0	C	NM_022063		120095902	-1	tier1	-	no_errors	ENST00000369172	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	T	T	120095902	C	T	120095902	3	4	58	1	0	0	0	0	1	0	0	0	1626	739	26	3	703	3	C10orf84	10	120095902	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	790688	120095902	15438845	1249	15632											
GRK5	2869	genome.wustl.edu	37	chr10	121189930	121189930	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagtatcgagtgctaGgaaaagggggcttcggggag	10	7	18	6	2	1	0	1	0	0	0	3	3	1	2	0	6	1	4	0	6	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:121189930G>T	ENST00000392870.2	+	7	906	c.577G>T	c.(577-579)Gga>Tga	p.G193*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.G88*	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCGAGTGCTAGGAAAAGGGGG	0.458																																																	0													142	142	142					10																	121189930		2203	4300	6503	SO:0001587	stop_gained	0			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.577G>T	10.37:g.121189930G>T	ENSP00000376609:p.Gly193*		D3DRD0|Q5T059	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.G193*	ENST00000392870.2	37	c.577	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.493582	0.98319	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8221	18.8439	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	193;88;88	.	ENSP00000358104:G88X	G	+	1	0	GRK5	121179920	1.000000	0.71417	0.869000	0.34112	0.953000	0.61014	9.835000	0.99442	2.443000	0.82685	0.563000	0.77884	GGA	GRK5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198873		0.458	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2		0	96	0	G	NM_005308		121189930	1			no_errors	ENST00000392870	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	1.000	T	T	121189930	G	T	121189930	4	4	58	1	0	0	0	0	0	1	0	0	6819	1001	35	3	603	3	GRK5	10	121189930	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1094028	121189930	14344817	1250	15633											
PLEKHA1	59338	genome.wustl.edu	37	chr10	124152781	124152781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagaaaatgaaaacaGtgggaaatttcttcgaaggt	17	10	10	4	1	1	3	0	2	1	1	2	5	1	4	0	2	1	0	0	2	7	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:124152781G>A	ENST00000368990.3	+	2	196	c.65G>A	c.(64-66)aGt>aAt	p.S22N	PLEKHA1_ENST00000433307.1_Missense_Mutation_p.S22N|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.S22N|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.S22N|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.S22N	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	22	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATGAAAACAGTGGGAAATTT	0.358																																																	0													97	100	99					10																	124152781		2203	4300	6503	SO:0001583	missense	0			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"Pleckstrin homology (PH) domain containing"	14335	protein-coding gene	gene with protein product	"tandem PH domain containing protein-1"	607772	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.65G>A	10.37:g.124152781G>A	ENSP00000357986:p.Ser22Asn		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S22N	ENST00000368990.3	37	c.65	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.362970	0.95877	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	M	0.72894	2.215	0.80722	D	1	P;P	0.51537	0.525;0.946	P;D	0.65573	0.835;0.936	T	0.80743	-0.1246	10	0.27785	T	0.31	-22.3731	20.6721	0.99693	0.0:0.0:1.0:0.0	.	22;22	B3KQ55;Q9HB21	.;PKHA1_HUMAN	N	22	ENSP00000357986:S22N;ENSP00000357985:S22N;ENSP00000357984:S22N;ENSP00000438608:S22N;ENSP00000376547:S22N;ENSP00000394416:S22N	ENSP00000357984:S22N	S	+	2	0	PLEKHA1	124142771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.894000	0.99253	0.591000	0.81541	AGT	PLEKHA1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000107679		0.358	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	-	0	84	0	G	NM_001001974		124152781	1	tier1	-	no_errors	ENST00000368990	ensembl	human	known	74_37	missense	51.95	37	40	SNP	1.000	A	A	124152781	G	A	124152781	3	1	58	1	0	0	0	0	1	0	0	0	12094	1029	36	3	67	3	PLEKHA1	10	124152781	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2962851	124152781	11381966	1251	15634											
HMX2	3167	genome.wustl.edu	37	chr10	124907930	124907930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgggcaaggggtgtccGgcggccggtggcgtctccag	4	6	20	11	5	1	0	0	0	1	0	3	1	2	0	3	7	1	1	3	7	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:124907930G>A	ENST00000339992.3	+	1	293	c.36G>A	c.(34-36)ccG>ccA	p.P12P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	12					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGGGTGTCCGGCGGCCGGTG	0.637																																																	0													39	52	48					10																	124907930		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"Homeoboxes / ANTP class : NKL subclass"	5018	protein-coding gene	gene with protein product		600647	"homeo box (H6 family) 2"			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.36G>A	10.37:g.124907930G>A			B2RNV5	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P12	ENST00000339992.3	37	c.36	CCDS31305.1	10																																																																																			HMX2	-	NULL	ENSG00000188816		0.637	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMX2	HGNC	protein_coding	OTTHUMT00000050841.1	-	0	96	0	G	XM_370580		124907930	1	tier1	-	no_errors	ENST00000339992	ensembl	human	known	74_37	silent	53.52	33	38	SNP	0.963	A	A	124907930	G	A	124907930	2	1	58	1	0	0	0	0	0	0	0	1	7274	1103	39	1		1	HMX2	10	124907930	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	755149	124907930	10626817	1252	15635											
CTBP2	1488	genome.wustl.edu	37	chr10	126692022	126692022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcgccaccagggggCgggggtgcagggggccgttc	5	3	20	13	3	0	0	0	0	0	0	1	0	0	0	4	6	3	3	4	6	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:126692022C>T	ENST00000337195.5	-	4	497	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CTBP2_ENST00000309035.6_Missense_Mutation_p.R573H|CTBP2_ENST00000531469.1_Missense_Mutation_p.R33H|CTBP2_ENST00000334808.6_Missense_Mutation_p.R101H|CTBP2_ENST00000411419.2_Missense_Mutation_p.R33H|CTBP2_ENST00000494626.2_Missense_Mutation_p.R33H	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	33					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CACCAGGGGGCGGGGGTGCAG	0.692																																																	0													15	20	18					10																	126692022		2136	4170	6306	SO:0001583	missense	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.98G>A	10.37:g.126692022C>T	ENSP00000338615:p.Arg33His		A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.R573H	ENST00000337195.5	37	c.1718	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374339	0.42105	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	4.72	4.72	0.59763	NAD(P)-binding domain (1);	0.216064	0.48767	D	0.000180	T	0.43277	0.1240	L	0.35854	1.095	0.58432	D	0.999997	B;P;B	0.51653	0.06;0.947;0.349	B;B;B	0.42361	0.004;0.385;0.031	T	0.52170	-0.8611	10	0.87932	D	0	.	18.0503	0.89345	0.0:1.0:0.0:0.0	.	33;573;101	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	H	33;573;101;33;33;33	ENSP00000338615:R33H;ENSP00000311825:R573H;ENSP00000357816:R101H;ENSP00000434630:R33H;ENSP00000436285:R33H;ENSP00000410474:R33H	ENSP00000311825:R573H	R	-	2	0	CTBP2	126682012	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	6.089000	0.71384	2.350000	0.79820	0.561000	0.74099	CGC	CTBP2	-	NULL	ENSG00000175029		0.692	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0	198	0	C	NM_001083914		126692022	-1	tier1	-	no_errors	ENST00000309035	ensembl	human	known	74_37	missense	40.88	93	65	SNP	1.000	T	T	126692022	C	T	126692022	3	4	58	1	0	0	0	0	1	0	0	0	4007	768	27	1	1271	1	CTBP2	10	126692022	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1784092	126692022	8842725	1253	15636											
C10orf137	26098	genome.wustl.edu	37	chr10	127409791	127409791	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggatcagctttatttcttGgaggcaatgaagtgaagagc	12	11	13	5	0	2	3	1	2	1	1	2	5	2	5	0	3	2	2	0	3	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:127409791G>T	ENST00000356792.4	+	2	359	c.127G>T	c.(127-129)Gga>Tga	p.G43*	RP11-383C5.4_ENST00000423178.2_lincRNA|C10orf137_ENST00000337623.3_Nonsense_Mutation_p.G43*|RP11-383C5.5_ENST00000430970.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTATTTCTTGGAGGCAATGA	0.393																																																	0													83	92	89					10																	127409791		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000356792.4:c.127G>T	10.37:g.127409791G>T	ENSP00000349244:p.Gly43*		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Nonsense_Mutation	SNP	NULL	p.G43*	ENST00000356792.4	37	c.127	CCDS55733.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.757046	0.98471	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.18	5.18	0.71444	.	0.053583	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.7189	0.91686	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000336727:G43X	G	+	1	0	C10orf137	127399781	1.000000	0.71417	0.952000	0.39060	0.986000	0.74619	9.072000	0.93986	2.404000	0.81709	0.655000	0.94253	GGA	C10orf137	-	NULL	ENSG00000107938		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	C10orf137	HGNC	protein_coding	OTTHUMT00000388539.1	-	0	60	0	G			127409791	1	tier1	-	no_errors	ENST00000356792	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T	T	127409791	G	T	127409791	4	4	58	1	0	0	0	0	0	1	0	0	1599	1349	47	3	133	3	C10orf137	10	127409791	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	717769	127409791	8124956	1254	15637											
FOXI2	399823	genome.wustl.edu	37	chr10	129536832	129536832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgcgagaagatgtttgAcaacgggaacttccgaagga	14	7	12	8	3	0	3	0	1	0	2	1	7	1	5	1	2	4	1	1	2	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129536832A>G	ENST00000388920.4	+	2	599	c.560A>G	c.(559-561)gAc>gGc	p.D187G		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				AAGATGTTTGACAACGGGAAC	0.607																																					Esophageal Squamous(54;1038 1280 2528 31583)												0													38	40	39					10																	129536832		2203	4300	6503	SO:0001583	missense	0			AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"Forkhead boxes"	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.560A>G	10.37:g.129536832A>G	ENSP00000373572:p.Asp187Gly			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D187G	ENST00000388920.4	37	c.560	CCDS7655.2	10	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644322	0.87859	.	.	ENSG00000186766	ENST00000388920	D	0.95447	-3.71	4.15	4.15	0.48705	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	L	0.53729	1.69	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96470	0.9348	10	0.87932	D	0	.	11.1915	0.48687	1.0:0.0:0.0:0.0	.	187	Q6ZQN5	FOXI2_HUMAN	G	187	ENSP00000373572:D187G	ENSP00000373572:D187G	D	+	2	0	FOXI2	129426822	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.852000	0.69488	1.737000	0.51674	0.459000	0.35465	GAC	FOXI2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000186766		0.607	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI2	HGNC	protein_coding	OTTHUMT00000050984.2	-	0	64	0	A	NM_207426		129536832	1	tier1	-	no_errors	ENST00000388920	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	G	G	129536832	A	G	129536832	3	3	58	1	0	0	0	0	1	0	0	0	6034	275	10	4	566	4	FOXI2	10	129536832	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2127041	129536832	5997915	1255	15638											
PTPRE	5791	genome.wustl.edu	37	chr10	129877846	129877846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggagctgggcgaacaggtAcattcatagccctcagcaac	11	6	11	13	2	2	0	2	0	0	0	2	2	2	1	2	3	6	3	2	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129877846A>G	ENST00000254667.3	+	20	2194	c.1915A>G	c.(1915-1917)Aca>Gca	p.T639A	PTPRE_ENST00000419012.2_Missense_Mutation_p.T639A|PTPRE_ENST00000306042.5_Missense_Mutation_p.T581A	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	639	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GCGAACAGGTACATTCATAGC	0.483																																					Colon(52;977 1184 20575 41685)												0													112	108	109					10																	129877846		2203	4300	6503	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1915A>G	10.37:g.129877846A>G	ENSP00000254667:p.Thr639Ala		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T639A	ENST00000254667.3	37	c.1915	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189374	0.78789	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	T;T;T	0.15834	2.39;2.39;2.39	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	L	0.35854	1.095	0.80722	D	1	P;P;P	0.43973	0.823;0.562;0.823	B;B;B	0.43990	0.438;0.311;0.438	T	0.01591	-1.1317	10	0.49607	T	0.09	.	14.5216	0.67853	1.0:0.0:0.0:0.0	.	639;581;639	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	A	639;639;581	ENSP00000254667:T639A;ENSP00000402337:T639A;ENSP00000303350:T581A	ENSP00000254667:T639A	T	+	1	0	PTPRE	129767836	1.000000	0.71417	0.616000	0.29078	0.991000	0.79684	9.010000	0.93611	2.070000	0.61991	0.533000	0.62120	ACA	PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.483	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	-	0	80	0	A			129877846	1	tier1	-	no_errors	ENST00000254667	ensembl	human	known	74_37	missense	38.89	55	35	SNP	0.997	G	G	129877846	A	G	129877846	3	3	58	1	0	0	0	0	1	0	0	0	12845	391	14	4	2024	4	PTPRE	10	129877846	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	341014	129877846	5656901	1256	15639											
MKI67	4288	genome.wustl.edu	37	chr10	129901402	129901402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcttggctgtctcctgCtgccaattacatcttctgcg	4	15	9	13	1	4	0	0	0	4	0	5	0	4	0	2	1	5	3	2	1	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129901402C>T	ENST00000368654.3	-	13	9077	c.8702G>A	c.(8701-8703)aGc>aAc	p.S2901N	MKI67_ENST00000368653.3_Missense_Mutation_p.S2541N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2901	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTCTCCTGCTGCCAATTAC	0.547																																																	0													162	158	160					10																	129901402		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8702G>A	10.37:g.129901402C>T	ENSP00000357643:p.Ser2901Asn		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S2901N	ENST00000368654.3	37	c.8702	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948845	0.18356	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03242	4.0;4.0	4.45	0.221	0.15283	.	.	.	.	.	T	0.04634	0.0126	L	0.56769	1.78	0.09310	N	1	B;P;P	0.44776	0.234;0.532;0.843	B;B;P	0.44772	0.12;0.122;0.46	T	0.34976	-0.9807	9	0.17832	T	0.49	.	3.143	0.06462	0.1763:0.416:0.3127:0.095	.	2900;2541;2901	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2901;2541;2900	ENSP00000357643:S2901N;ENSP00000357642:S2541N	ENSP00000357642:S2541N	S	-	2	0	MKI67	129791392	0.032000	0.19561	0.001000	0.08648	0.030000	0.12068	-0.058000	0.11750	-0.043000	0.13513	-0.165000	0.13383	AGC	MKI67	-	pfam_K167R	ENSG00000148773		0.547	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0	44	0	C	NM_002417		129901402	-1			no_errors	ENST00000368654	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.003	T	T	129901402	C	T	129901402	3	4	58	1	0	0	0	0	1	0	0	0	9636	797	28	3	1080	3	MKI67	10	129901402	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	23556	129901402	5633345	1257	15640											
MKI67	4288	genome.wustl.edu	37	chr10	129903982	129903982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgcagattccttaaacGctttgatgctctttccatct	7	17	6	11	1	2	2	0	1	2	1	4	2	4	2	2	0	3	4	2	0	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129903982G>A	ENST00000368654.3	-	13	6497	c.6122C>T	c.(6121-6123)gCg>gTg	p.A2041V	MKI67_ENST00000368653.3_Missense_Mutation_p.A1681V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2041	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTTAAACGCTTTGATGCT	0.507																																																	0													307	286	293					10																	129903982		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6122C>T	10.37:g.129903982G>A	ENSP00000357643:p.Ala2041Val		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A2041V	ENST00000368654.3	37	c.6122	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	2.228	-0.376739	0.05000	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02579	4.24;4.24	3.56	-7.12	0.01537	.	2.699170	0.02024	N	0.048055	T	0.02267	0.0070	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.41215	-0.9521	10	0.30078	T	0.28	.	1.1454	0.01774	0.275:0.3294:0.2099:0.1856	.	2040;1681;2041	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	2041;1681;2040	ENSP00000357643:A2041V;ENSP00000357642:A1681V	ENSP00000357642:A1681V	A	-	2	0	MKI67	129793972	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.430000	0.00020	-2.072000	0.00879	-1.822000	0.00598	GCG	MKI67	-	pfam_K167R	ENSG00000148773		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	79	0	G	NM_002417		129903982	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	44.68	52	42	SNP	0.000	A	A	129903982	G	A	129903982	3	1	58	1	0	0	0	0	1	0	0	0	9636	1087	38	1	3660	1	MKI67	10	129903982	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2580	129903982	5630765	1258	15641											
EBF3	253738	genome.wustl.edu	37	chr10	131761680	131761680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcctttcaatctccaccGgctgcccctgcctatcgtag	5	11	8	17	3	2	0	1	0	1	0	5	0	3	0	6	2	2	2	6	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:131761680G>A	ENST00000355311.5	-	2	314	c.242C>T	c.(241-243)cCg>cTg	p.P81L	EBF3_ENST00000368648.3_Missense_Mutation_p.P81L			Q9H4W6	COE3_HUMAN	early B-cell factor 3	81					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AATCTCCACCGGCTGCCCCTG	0.557																																																	0													70	78	75					10																	131761680		2203	4300	6503	SO:0001583	missense	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.242C>T	10.37:g.131761680G>A	ENSP00000347463:p.Pro81Leu		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.P81L	ENST00000355311.5	37	c.242		10	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754033	0.69648	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.66	3.45	3.45	0.39498	.	0.000000	0.85682	U	0.000000	T	0.67078	0.2855	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.971	T	0.71111	-0.4687	10	0.51188	T	0.08	-6.4879	14.5175	0.67827	0.0:0.0:1.0:0.0	.	81;81	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	L	81	ENSP00000347463:P81L;ENSP00000357637:P81L	ENSP00000347463:P81L	P	-	2	0	EBF3	131651670	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.831000	0.92068	1.453000	0.47775	0.205000	0.17691	CCG	EBF3	-	NULL	ENSG00000108001		0.557	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	-	0	103	0	G	NM_001005463		131761680	-1	tier1	-	no_errors	ENST00000355311	ensembl	human	known	74_37	missense	30.12	58	25	SNP	1.000	A	A	131761680	G	A	131761680	3	1	58	1	0	0	0	0	1	0	0	0	4896	1116	39	1	1473	1	EBF3	10	131761680	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1857698	131761680	3773067	1259	15642											
EBF3	253738	genome.wustl.edu	37	chr10	131761704	131761704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcctatcgtagagcGccagcacgaagtggaagaaa	12	5	12	12	3	0	2	0	0	0	2	1	4	0	3	4	1	3	2	4	1	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:131761704G>A	ENST00000355311.5	-	2	290	c.218C>T	c.(217-219)gCg>gTg	p.A73V	EBF3_ENST00000368648.3_Missense_Mutation_p.A73V			Q9H4W6	COE3_HUMAN	early B-cell factor 3	73					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATCGTAGAGCGCCAGCACGAA	0.572																																																	0													64	70	68					10																	131761704		2203	4300	6503	SO:0001583	missense	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.218C>T	10.37:g.131761704G>A	ENSP00000347463:p.Ala73Val		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.A73V	ENST00000355311.5	37	c.218		10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318404	0.81469	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.61510	0.1;0.15	3.27	3.27	0.37495	.	0.000000	0.85682	U	0.000000	T	0.77465	0.4134	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.976;0.981	T	0.82804	-0.0276	10	0.87932	D	0	-7.0785	14.1154	0.65149	0.0:0.0:1.0:0.0	.	73;73	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	V	73	ENSP00000347463:A73V;ENSP00000357637:A73V	ENSP00000347463:A73V	A	-	2	0	EBF3	131651694	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.831000	0.92068	1.343000	0.45638	0.205000	0.17691	GCG	EBF3	-	NULL	ENSG00000108001		0.572	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2		0	99	0	G	NM_001005463		131761704	-1			no_errors	ENST00000355311	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	131761704	G	A	131761704	3	1	58	1	0	0	0	0	1	0	0	0	4896	1087	38	1	1497	1	EBF3	10	131761704	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	24	131761704	3773043	1260	15643											
STK32C	282974	genome.wustl.edu	37	chr10	134036380	134036380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacgttgggcacgaagccCggctccaccctcttctcgct	5	10	9	17	4	2	0	0	0	2	0	4	1	3	0	3	2	2	4	3	2	2	3	rs371918693		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:134036380C>T	ENST00000368622.1	-	9	1134	c.753G>A	c.(751-753)ccG>ccA	p.P251P	STK32C_ENST00000368625.4_Silent_p.P381P					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCACGAAGCCCGGCTCCACCC	0.716																																																	0										3,4371		0,3,2184	22	24	23		1104	-7.8	0.6	10		23	0,8576		0,0,4288	no	coding-synonymous	STK32C	NM_173575.2		0,3,6472	TT,TC,CC		0.0,0.0686,0.0232		368/487	134036380	3,12947	2187	4288	6475	SO:0001819	synonymous_variant	0			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.753G>A	10.37:g.134036380C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P381	ENST00000368622.1	37	c.1143		10																																																																																			STK32C	-	superfamily_Kinase-like_dom	ENSG00000165752		0.716	STK32C-001	KNOWN	basic	protein_coding	STK32C	HGNC	protein_coding	OTTHUMT00000051068.2	-	0	37	0	C	NM_173575		134036380	-1	tier1	-	no_errors	ENST00000368625	ensembl	human	known	74_37	silent	58.33	10	14	SNP	0.005	T	T	134036380	C	T	134036380	2	4	58	1	0	0	0	0	0	0	0	1	15346	639	23	1		1	STK32C	10	134036380	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2274676	134036380	1498367	1261	15644											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135107236	135107236	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtacagcaggtcctcCaccacggccgactcctgcga	9	5	10	17	4	0	0	0	0	0	0	3	2	3	0	5	2	4	3	5	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:135107236C>A	ENST00000252936.3	-	5	693	c.654G>T	c.(652-654)gtG>gtT	p.V218V	TUBGCP2_ENST00000543663.1_Silent_p.V246V|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000368563.2_Silent_p.V218V|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000417178.2_Silent_p.V88V			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	218					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCAGGTCCTCCACCACGGCCG	0.701																																																	0													38	28	31					10																	135107236		2201	4294	6495	SO:0001819	synonymous_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.654G>T	10.37:g.135107236C>A			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_TUBGCP,superfamily_Ocr	p.V246	ENST00000252936.3	37	c.738	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_TUBGCP	ENSG00000130640		0.701	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0	108	0	C			135107236	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	silent	39.68	38	25	SNP	1.000	A	A	135107236	C	A	135107236	2	1	58	1	0	0	0	0	0	0	0	1	16815	581	21	3		3	TUBGCP2	10	135107236	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1070856	135107236	427511	1262	15645											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135116332	135116332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacagtggtagtgacgtaCggggtcctgttcttttgaag	8	12	15	6	2	1	3	0	2	1	1	2	4	2	3	1	3	1	3	1	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:135116332C>T	ENST00000252936.3	-	1	153	c.114G>A	c.(112-114)ccG>ccA	p.P38P	TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000543663.1_Silent_p.P38P|TUBGCP2_ENST00000368563.2_Silent_p.P38P|TUBGCP2_ENST00000417178.2_Intron			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	38					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TAGTGACGTACGGGGTCCTGT	0.567																																																	0													293	210	238					10																	135116332		2203	4300	6503	SO:0001819	synonymous_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.114G>A	10.37:g.135116332C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_TUBGCP,superfamily_Ocr	p.P38	ENST00000252936.3	37	c.114	CCDS7676.1	10																																																																																			TUBGCP2	-	NULL	ENSG00000130640		0.567	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0	25	0	C			135116332	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.723	T	T	135116332	C	T	135116332	2	4	58	1	0	0	0	0	0	0	0	1	16815	523	19	1		1	TUBGCP2	10	135116332	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	9096	135116332	418415	1263	15646											
B4GALNT4	338707	genome.wustl.edu	37	chr11	380921	380921	+	Frame_Shift_Del	DEL	G	G	-																															ggaggagttccgagaccagtGggggggtgaagactgggagc																								rs202153599|rs35951843		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:380921delG	ENST00000329962.6	+	19	2966	c.2966delG	c.(2965-2967)tggfs	p.W989fs		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	989					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGACCAGTGGGGGGGTGAA	0.602																																																	0													48	49	49					11																	380921		2203	4300	6503	SO:0001589	frameshift_variant	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2966delG	11.37:g.380921delG	ENSP00000328277:p.Trp989fs		Q96LV2	Frame_Shift_Del	DEL	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.G991fs	ENST00000329962.6	37	c.2966	CCDS7694.1	11																																																																																			B4GALNT4	-	pfam_Chond_GalNAc	ENSG00000182272		0.602	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2		0	58	0	G	NM_178537		380921	1	tier1		no_errors	ENST00000329962	ensembl	human	known	74_37	frame_shift_del	45.65	25	21	DEL	1.000	-	-	380921	G	-	380921	7	5	58	1	0	1	0	1	0	0	0	0	1270	1357	47	0	3040	0	B4GALNT4	11	380921	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09		380921	134625595	1264	15647											
ANO9	338440	genome.wustl.edu	37	chr11	428562	428562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctccaggaagggcacGgccgagctgctgaagagcgc	8	5	15	13	3	0	2	0	1	0	1	2	4	2	3	3	3	4	4	3	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:428562G>A	ENST00000332826.6	-	13	1182	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	366					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGAAGGGCACGGCCGAGCTGC	0.662																																																	0													28	31	30					11																	428562		2194	4286	6480	SO:0001819	synonymous_variant	0			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1098C>T	11.37:g.428562G>A			B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.A366	ENST00000332826.6	37	c.1098	CCDS31326.1	11																																																																																			ANO9	-	pfam_Anoctamin	ENSG00000185101		0.662	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	-	0	57	0	G	NM_001012302		428562	-1	tier1	-	no_errors	ENST00000332826	ensembl	human	known	74_37	silent	30.95	29	13	SNP	0.000	A	A	428562	G	A	428562	2	1	58	1	0	0	0	0	0	0	0	1	704	1103	39	1		1	ANO9	11	428562	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	47641	428562	134577954	1265	15648											
CEND1	51286	genome.wustl.edu	37	chr11	788130	788130	+	Frame_Shift_Del	DEL	T	T	-																															cgcctggcccccaggtattaTtttttccggaccaggaaggc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:788130delT	ENST00000330106.4	-	2	622	c.447delA	c.(445-447)aaafs	p.K149fs	CEND1_ENST00000524587.1_5'Flank	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	149					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGTATTATTTTTTCCGGA	0.607																																																	0													11	12	11					11																	788130		2189	4286	6475	SO:0001589	frameshift_variant	0			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.447delA	11.37:g.788130delT	ENSP00000328336:p.Lys149fs		Q9NYM6	Frame_Shift_Del	DEL	NULL	p.K149fs	ENST00000330106.4	37	c.447	CCDS7714.1	11																																																																																			CEND1	-	NULL	ENSG00000184524		0.607	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1		0	24	0	T	NM_016564		788130	-1	tier1		no_errors	ENST00000330106	ensembl	human	known	74_37	frame_shift_del	52.17	11	12	DEL	0.985	-	-	788130	T	-	788130	7	5	58	1	0	1	0	1	0	0	0	0	3232	1490	52	0	6	0	CEND1	11	788130	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	359568	788130	134218386	1266	15649											
CHID1	66005	genome.wustl.edu	37	chr11	893458	893458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcgggatgaccaggaGggccagcagccgggcctggt	7	3	20	11	2	0	1	0	1	0	0	0	3	0	3	4	7	2	2	4	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:893458G>T	ENST00000449825.1	-	8	1026	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	CHID1_ENST00000436108.2_Missense_Mutation_p.L224I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000454838.2_Missense_Mutation_p.L249I|CHID1_ENST00000336845.5_Missense_Mutation_p.L249I|CHID1_ENST00000323578.8_Missense_Mutation_p.L224I|CHID1_ENST00000528581.1_Missense_Mutation_p.L249I|CHID1_ENST00000323541.7_Missense_Mutation_p.L254I|CHID1_ENST00000429789.2_Intron	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	224					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		ATGACCAGGAGGGCCAGCAGC	0.682																																					Pancreas(117;992 2327 5172 41921)												0													35	36	36					11																	893458		2083	4133	6216	SO:0001583	missense	0			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.670C>A	11.37:g.893458G>T	ENSP00000391255:p.Leu224Ile		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L254I	ENST00000449825.1	37	c.760	CCDS7722.1	11	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.368088	0.01225	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.24	0.339	0.15979	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.246243	0.40469	N	0.001086	T	0.05456	0.0144	N	0.00037	-2.525	0.27236	N	0.959268	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.41627	-0.9498	10	0.02654	T	1	-19.4479	5.1828	0.15169	0.1743:0.0:0.3199:0.5058	.	285;254;249;224	B4DN31;B7Z705;Q9BWS9-2;Q9BWS9	.;.;.;CHID1_HUMAN	I	254;224;249;224;249;249;224;128	ENSP00000324821:L254I;ENSP00000391255:L224I;ENSP00000398722:L249I;ENSP00000325055:L224I;ENSP00000435503:L249I;ENSP00000338838:L249I;ENSP00000388156:L224I	ENSP00000324821:L254I	L	-	1	0	CHID1	883458	0.114000	0.22134	0.943000	0.38184	0.277000	0.26821	-0.002000	0.12924	-0.141000	0.11374	-1.272000	0.01410	CTC	CHID1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000177830		0.682	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CHID1	HGNC	protein_coding	OTTHUMT00000257112.1	-	0	150	0	G	NM_023947		893458	-1	tier1	-	no_errors	ENST00000323541	ensembl	human	known	74_37	missense	43.97	65	51	SNP	0.998	T	T	893458	G	T	893458	3	4	58	1	0	0	0	0	1	0	0	0	3352	1000	35	3	535	3	CHID1	11	893458	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	105328	893458	134113058	1267	15650											
MUC2	4583	genome.wustl.edu	37	chr11	1093922	1093922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcccagcaccaccaCgtcccctccaggtaagcaga	10	4	7	20	2	0	1	0	0	0	1	3	1	3	1	8	1	2	3	8	1	1	1	rs535313607	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1093922C>T	ENST00000441003.2	+	30	5768	c.5741C>T	c.(5740-5742)aCg>aTg	p.T1914M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.T202M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4276					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCACCACGTCCCCTCCA	0.657													C|||	2	0.000399361	0	0	5008	,	,		17884	0.002		0	False		,,,				2504	0																0													66	92	83					11																	1093922		2180	4267	6447	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5741C>T	11.37:g.1093922C>T	ENSP00000415183:p.Thr1914Met		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1914M	ENST00000441003.2	37	c.5741		11	.	.	.	.	.	.	.	.	.	.	C	7.282	0.609232	0.14066	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.13089	2.62;3.15	1.82	1.82	0.25136	.	.	.	.	.	T	0.08537	0.0212	N	0.22421	0.69	0.09310	N	1	D	0.67145	0.996	B	0.39339	0.297	T	0.24764	-1.0151	9	0.66056	D	0.02	.	8.5456	0.33419	0.0:1.0:0.0:0.0	.	1914	E7EUV1	.	M	1914;202	ENSP00000415183:T1914M;ENSP00000331373:T202M	ENSP00000331373:T202M	T	+	2	0	MUC2	1083922	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.182000	0.09726	1.014000	0.39417	0.305000	0.20034	ACG	MUC2	-	NULL	ENSG00000198788		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	57	0	C	NM_002457		1093922	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.002	T	T	1093922	C	T	1093922	3	4	58	1	0	0	0	0	1	0	0	0	10013	536	19	1	5851	1	MUC2	11	1093922	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	200464	1093922	133912594	1268	15651											
MUC2	4583	genome.wustl.edu	37	chr11	1102508	1102508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagaagtgtgaacagaCgcactgtatcatcaaacggc	14	8	10	9	2	2	3	2	1	0	2	2	3	2	3	0	1	2	3	0	1	5	2	rs556795222		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1102508C>T	ENST00000441003.2	+	45	7919	c.7892C>T	c.(7891-7893)aCg>aTg	p.T2631M		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4993					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGAACAGACGCACTGTATC	0.617																																																	0													56	64	62					11																	1102508		2078	4197	6275	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7892C>T	11.37:g.1102508C>T	ENSP00000415183:p.Thr2631Met		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T2631M	ENST00000441003.2	37	c.7892		11	.	.	.	.	.	.	.	.	.	.	C	3.202	-0.163522	0.06502	.	.	ENSG00000198788	ENST00000441003	T	0.65916	-0.18	3.78	2.78	0.32641	.	.	.	.	.	T	0.76681	0.4021	M	0.80746	2.51	0.22639	N	0.99891	D	0.89917	1.0	D	0.65987	0.94	T	0.64228	-0.6457	9	0.62326	D	0.03	.	10.7902	0.46428	0.189:0.811:0.0:0.0	.	2631	E7EUV1	.	M	2631	ENSP00000415183:T2631M	ENSP00000415183:T2631M	T	+	2	0	MUC2	1092508	0.923000	0.31300	0.997000	0.53966	0.035000	0.12851	1.846000	0.39289	1.808000	0.52836	0.561000	0.74099	ACG	MUC2	-	NULL	ENSG00000198788		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	31	0	C	NM_002457		1102508	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.775	T	T	1102508	C	T	1102508	3	4	58	1	0	0	0	0	1	0	0	0	10013	536	19	1	8062	1	MUC2	11	1102508	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8586	1102508	133904008	1269	15652											
MUC5B	727897	genome.wustl.edu	37	chr11	1263254	1263254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggcgcccctcacagccacCcacgctggccccaacaacaa	11	3	7	20	2	1	0	1	0	0	0	1	0	1	0	6	2	3	1	6	2	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1263254C>A	ENST00000529681.1	+	31	5202	c.5144C>A	c.(5143-5145)cCc>cAc	p.P1715H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P1718H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1715	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCACAGCCACCCACGCTGGCC	0.662																																																	0													19	26	24					11																	1263254		2147	4233	6380	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5144C>A	11.37:g.1263254C>A	ENSP00000436812:p.Pro1715His		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1718H	ENST00000529681.1	37	c.5153	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	5.509	0.278906	0.10458	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.34	2.22	-2.13	0.07144	.	.	.	.	.	T	0.07818	0.0196	N	0.24115	0.695	0.09310	N	1	P;P	0.50156	0.932;0.932	B;B	0.31337	0.128;0.128	T	0.26430	-1.0103	9	0.87932	D	0	.	0.5343	0.00634	0.3179:0.3032:0.2105:0.1685	.	2408;1718	A7Y9J9;E9PBJ0	.;.	H	1715;1718;1716;1785	ENSP00000436812:P1715H;ENSP00000415793:P1718H	ENSP00000343037:P1716H	P	+	2	0	MUC5B	1219830	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	1.122000	0.31295	-0.253000	0.09514	0.306000	0.20318	CCC	MUC5B	-	NULL	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	36	0	C	XM_001126093		1263254	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.000	A	A	1263254	C	A	1263254	3	1	58	1	0	0	0	0	1	0	0	0	10017	623	22	3	5275	3	MUC5B	11	1263254	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	160746	1263254	133743262	1270	15653											
BRSK2	9024	genome.wustl.edu	37	chr11	1475821	1475821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatcaaggctgacatcGtgcacgccttcctgtcggtg	6	10	11	14	3	1	1	1	1	0	0	5	1	3	1	3	2	1	3	3	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1475821G>A	ENST00000528841.1	+	16	2035	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BRSK2_ENST00000308219.9_Missense_Mutation_p.V551M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V573M|BRSK2_ENST00000528710.1_Missense_Mutation_p.V491M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V246M|BRSK2_ENST00000382179.1_Missense_Mutation_p.V597M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V551M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V573M			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	551					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCTGACATCGTGCACGCCTT	0.607																																																	0													52	60	58					11																	1475821		2092	4223	6315	SO:0001583	missense	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"serine/threonine kinase 29"	609236	"chromsosome 11 open reading frame 7"	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1651G>A	11.37:g.1475821G>A	ENSP00000432000:p.Val551Met		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V597M	ENST00000528841.1	37	c.1789	CCDS58107.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.72|18.72	3.684089|3.684089	0.68157|0.68157	.|.	.|.	ENSG00000174672|ENSG00000174672	ENST00000533606|ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	.|T;T;T;T;T;T;T;T	.|0.79845	.|-1.26;-1.29;-1.28;-1.31;-1.28;-1.1;-1.19;0.3	3.57|3.57	3.57|3.57	0.40892|0.40892	.|.	.|0.074413	.|0.53938	.|U	.|0.000056	D|D	0.88123|0.88123	0.6352|0.6352	M|M	0.78637|0.78637	2.42|2.42	0.47905|0.47905	D|D	0.99954|0.99954	.|D;D;D;D;D	.|0.69078	.|0.995;0.995;0.991;0.995;0.997	.|P;P;P;P;P	.|0.62740	.|0.855;0.833;0.855;0.848;0.906	D|D	0.90416|0.90416	0.4413|0.4413	5|10	.|0.87932	.|D	.|0	.|.	15.3534|15.3534	0.74409|0.74409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|573;597;551;551;551	.|Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.|.;.;.;BRSK2_HUMAN;.	H|M	89|551;551;573;551;573;491;597;246	.|ENSP00000310697:V551M;ENSP00000431152:V551M;ENSP00000310805:V573M;ENSP00000432000:V551M;ENSP00000433370:V573M;ENSP00000433235:V491M;ENSP00000371614:V597M;ENSP00000445168:V246M	.|ENSP00000310697:V551M	R|V	+|+	2|1	0|0	BRSK2|BRSK2	1432397|1432397	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.755000|0.755000	0.42902|0.42902	7.368000|7.368000	0.79567|0.79567	1.849000|1.849000	0.53698|0.53698	0.313000|0.313000	0.20887|0.20887	CGT|GTG	BRSK2	-	NULL	ENSG00000174672		0.607	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	-	0	53	0	G	NM_003957		1475821	1	tier1	-	no_errors	ENST00000382179	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.978	A	A	1475821	G	A	1475821	3	1	58	1	0	0	0	0	1	0	0	0	1528	1145	40	1	1713	1	BRSK2	11	1475821	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	212567	1475821	133530695	1271	15654											
IGF2	3481	genome.wustl.edu	37	chr11	2156651	2156651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgtccaccagctcccCgccgcacagggtctcactgg	6	6	13	16	2	1	0	1	0	1	0	4	1	3	0	5	3	1	2	5	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:2156651C>T	ENST00000416167.2	-	2	1269	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	IGF2_ENST00000418738.2_Missense_Mutation_p.G35R|IGF2_ENST00000434045.2_Missense_Mutation_p.G91R|IGF2_ENST00000381392.1_Missense_Mutation_p.G35R|IGF2_ENST00000300632.5_Missense_Mutation_p.G35R|IGF2_ENST00000381406.4_Missense_Mutation_p.G35R|IGF2_ENST00000381395.1_Missense_Mutation_p.G35R|IGF2_ENST00000381389.1_Missense_Mutation_p.G35R|MIR483_ENST00000385070.1_RNA			P01344	IGF2_HUMAN	insulin-like growth factor 2	35	B.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACCAGCTCCCCGCCGCACAGG	0.617																																																	0													48	41	43					11																	2156651		2201	4299	6500	SO:0001583	missense	0			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"somatomedin A"	147470	"chromosome 11 open reading frame 43"	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.103G>A	11.37:g.2156651C>T	ENSP00000414497:p.Gly35Arg		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.G91R	ENST00000416167.2	37	c.271	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040297	0.75732	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	3.35	3.35	0.38373	Insulin-like (4);	0.000000	0.64402	U	0.000001	D	0.90604	0.7054	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.91774	0.5430	10	0.87932	D	0	.	13.8761	0.63653	0.0:1.0:0.0:0.0	.	91;35	C9JAF2;P01344	.;IGF2_HUMAN	R	35;35;35;35;35;91;35;35;35;35;35	ENSP00000370802:G35R;ENSP00000370813:G35R;ENSP00000414497:G35R;ENSP00000300632:G35R;ENSP00000391826:G91R;ENSP00000370799:G35R;ENSP00000370796:G35R;ENSP00000402047:G35R;ENSP00000338297:G35R	ENSP00000300632:G35R	G	-	1	0	IGF2	2113227	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.812000	0.62613	1.898000	0.54952	0.456000	0.33151	GGG	IGF2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family,prints_Insulin-like_growth_factor	ENSG00000167244		0.617	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2	HGNC	protein_coding	OTTHUMT00000026053.2	-	0	134	0	C	NM_000612		2156651	-1	tier1	-	no_errors	ENST00000434045	ensembl	human	known	74_37	missense	42.74	67	50	SNP	1.000	T	T	2156651	C	T	2156651	3	4	58	1	0	0	0	0	1	0	0	0	7599	652	23	1	451	1	IGF2	11	2156651	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	680830	2156651	132849865	1272	15655											
OR51A7	119687	genome.wustl.edu	37	chr11	4928790	4928790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccatgtattatttccttgCcatgttggctgtctctgaca	6	16	8	11	0	1	1	0	1	1	0	3	1	2	1	3	1	1	3	3	1	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:4928790C>T	ENST00000359350.4	+	1	191	c.191C>T	c.(190-192)gCc>gTc	p.A64V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTTCCTTGCCATGTTGGCT	0.483																																																	0													181	158	166					11																	4928790		2201	4298	6499	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.191C>T	11.37:g.4928790C>T	ENSP00000352305:p.Ala64Val		Q6IFH8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A64V	ENST00000359350.4	37	c.191	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796204	0.50208	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.00560	6.6	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.462746	0.18366	N	0.143405	T	0.00845	0.0028	L	0.52759	1.655	0.19945	N	0.999948	B	0.26547	0.152	B	0.36766	0.232	T	0.43829	-0.9367	10	0.87932	D	0	.	11.4195	0.49974	0.0:0.9132:0.0:0.0868	.	64	Q8NH64	O51A7_HUMAN	V	64;64;53	ENSP00000352305:A64V	ENSP00000352305:A64V	A	+	2	0	OR51A7	4885366	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.525000	0.06214	2.596000	0.87737	0.655000	0.94253	GCC	OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176895		0.483	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	-	0	40	0	C	NM_001004749		4928790	1	tier1	-	no_errors	ENST00000359350	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.801	T	T	4928790	C	T	4928790	3	4	58	1	0	0	0	0	1	0	0	0	11127	739	26	3	193	3	OR51A7	11	4928790	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2772139	4928790	130077726	1273	15656											
OR51G2	81282	genome.wustl.edu	37	chr11	4936759	4936759	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaattgtgcagttgccCgggatggaaaccagatacat	15	8	11	7	1	0	2	0	0	0	2	0	4	0	4	2	2	4	2	2	2	5	3	rs554121981		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:4936759C>T	ENST00000322013.3	-	1	163	c.135G>A	c.(133-135)ccG>ccA	p.P45P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAGTTGCCCGGGATGGAAA	0.502													C|||	1	0.000199681	0	0	5008	,	,		19986	0.001		0	False		,,,				2504	0																0													87	81	83					11																	4936759		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.135G>A	11.37:g.4936759C>T			Q6IFH7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P45	ENST00000322013.3	37	c.135	CCDS31365.1	11																																																																																			OR51G2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn	ENSG00000176893		0.502	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	-	0	32	0	C	NM_001005238		4936759	-1	tier1	-	no_errors	ENST00000322013	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.585	T	T	4936759	C	T	4936759	2	4	58	1	0	0	0	0	0	0	0	1	11138	639	23	1		1	OR51G2	11	4936759	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	7969	4936759	130069757	1274	15657											
OR51G1	79324	genome.wustl.edu	37	chr11	4944874	4944874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcggagtcgctcctggtgGgaggcaatgctgagcacggt	6	8	17	10	3	0	1	0	1	0	0	3	3	1	3	1	5	2	5	1	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:4944874G>A	ENST00000321961.2	-	1	763	c.696C>T	c.(694-696)tcC>tcT	p.S232S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCCTGGTGGGAGGCAATGC	0.552																																																	0													133	103	113					11																	4944874		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.696C>T	11.37:g.4944874G>A			B9EGW8|Q6IFH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S232	ENST00000321961.2	37	c.696	CCDS31366.1	11																																																																																			OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176879		0.552	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0	52	0	G	NM_001005237		4944874	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	silent	38.98	36	23	SNP	0.566	A	A	4944874	G	A	4944874	2	1	58	1	0	0	0	0	0	0	0	1	11137	1219	43	3		3	OR51G1	11	4944874	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8115	4944874	130061642	1275	15658											
OR52A1	23538	genome.wustl.edu	37	chr11	5173098	5173098	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgataaaattgaaaccGgcactttatcagtactaggc	13	12	9	7	1	1	2	1	2	0	0	1	2	1	2	1	2	2	2	1	2	6	6	rs201188287		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:5173098G>T	ENST00000380367.1	-	2	919	c.502C>A	c.(502-504)Cgg>Agg	p.R168R	OR52A1_ENST00000328942.1_Silent_p.R168R			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	168					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATTGAAACCGGCACTTTATC	0.443																																																	0													135	133	134					11																	5173098		2201	4298	6499	SO:0001819	synonymous_variant	0			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.502C>A	11.37:g.5173098G>T			Q6IF31	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R168	ENST00000380367.1	37	c.502	CCDS31374.1	11																																																																																			OR52A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182070		0.443	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	-	0	30	0	G	NM_012375		5173098	-1	tier1	-	no_errors	ENST00000328942	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.001	T	T	5173098	G	T	5173098	2	4	58	1	0	0	0	0	0	0	0	1	11147	1115	39	2		2	OR52A1	11	5173098	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	228224	5173098	129833418	1276	15659											
PRKCDBP	112464	genome.wustl.edu	37	chr11	6340635	6340635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtaccttctgcaatcCggtgcgccgcagccgctggg	4	9	13	15	4	2	0	0	0	2	0	3	0	3	0	4	2	4	5	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6340635C>T	ENST00000303927.3	-	2	714	c.544G>A	c.(544-546)Gga>Aga	p.G182R	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.G214R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	182					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTGCAATCCGGTGCGCCGC	0.711																																																	0													22	27	25					11																	6340635		2195	4290	6485	SO:0001583	missense	0			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"sdr-related gene product that binds to c-kinase"					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.544G>A	11.37:g.6340635C>T	ENSP00000307292:p.Gly182Arg			Missense_Mutation	SNP	NULL	p.G182R	ENST00000303927.3	37	c.544	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618303	0.87359	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.62788	-0.0;-0.0	5.08	5.08	0.68730	.	0.053627	0.85682	D	0.000000	T	0.66567	0.2802	N	0.19112	0.55	0.32268	N	0.569264	D	0.89917	1.0	D	0.97110	1.0	T	0.73975	-0.3813	10	0.87932	D	0	-32.6206	13.9712	0.64242	0.0:1.0:0.0:0.0	.	182	Q969G5	PRDBP_HUMAN	R	182;214	ENSP00000307292:G182R;ENSP00000432047:G214R	ENSP00000307292:G182R	G	-	1	0	PRKCDBP	6297211	0.373000	0.25073	0.832000	0.32986	0.996000	0.88848	2.581000	0.46077	2.368000	0.80403	0.561000	0.74099	GGA	PRKCDBP	-	NULL	ENSG00000170955		0.711	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	-	0	20	0	C	NM_145040		6340635	-1	tier1	-	no_errors	ENST00000303927	ensembl	human	known	74_37	missense	58.33	5	7	SNP	0.654	T	T	6340635	C	T	6340635	3	4	58	1	0	0	0	0	1	0	0	0	12552	661	23	1	245	1	PRKCDBP	11	6340635	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1167537	6340635	128665881	1277	15660											
APBB1	322	genome.wustl.edu	37	chr11	6422905	6422905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagcttatcacgagctaCgtaggcaaagtccctgttgg	9	10	12	10	2	2	0	2	0	0	0	3	1	3	0	1	3	3	5	1	3	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6422905C>T	ENST00000609360.1	-	10	1501	c.1402G>A	c.(1402-1404)Gta>Ata	p.V468I	APBB1_ENST00000389906.2_Missense_Mutation_p.V468I|APBB1_ENST00000299402.6_Missense_Mutation_p.V466I|APBB1_ENST00000530885.1_Missense_Mutation_p.V246I|APBB1_ENST00000608645.1_Missense_Mutation_p.V209I|APBB1_ENST00000608394.1_Missense_Mutation_p.V209I|APBB1_ENST00000609331.1_Missense_Mutation_p.V233I|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.V466I|APBB1_ENST00000608704.1_Missense_Mutation_p.V209I|APBB1_ENST00000608655.1_Missense_Mutation_p.V248I	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	468	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCACGAGCTACGTAGGCAAAG	0.592																																					GBM(147;1810 2556 5672 39622)												0													160	111	128					11																	6422905		2201	4296	6497	SO:0001583	missense	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1402G>A	11.37:g.6422905C>T	ENSP00000477213:p.Val468Ile		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.V468I	ENST00000609360.1	37	c.1402		11	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406969	0.42715	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01	4.15	3.22	0.36961	.	0.000000	0.64402	D	0.000010	T	0.23572	0.0570	L	0.61036	1.89	0.51233	D	0.999916	D;B;B	0.71674	0.998;0.109;0.051	D;B;B	0.76071	0.987;0.057;0.063	T	0.01093	-1.1454	10	0.45353	T	0.12	-3.7051	5.5809	0.17248	0.0:0.6859:0.205:0.1091	.	71;246;466	B7Z4M4;B7Z2Y0;O00213-2	.;.;.	I	466;466;468;317;209;233;246;207	ENSP00000299402:V466I;ENSP00000311912:V466I;ENSP00000374556:V468I;ENSP00000433338:V246I;ENSP00000437114:V207I	ENSP00000299402:V466I	V	-	1	0	APBB1	6379481	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.425000	0.80255	0.929000	0.37192	0.591000	0.81541	GTA	APBB1	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000166313		0.592	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	-	0	70	0	C	NM_001164		6422905	-1	tier1	-	no_errors	ENST00000389906	ensembl	human	known	74_37	missense	44.83	32	26	SNP	1.000	T	T	6422905	C	T	6422905	3	4	58	1	0	0	0	0	1	0	0	0	759	536	19	1	754	1	APBB1	11	6422905	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	82270	6422905	128583611	1278	15661											
HPX	3263	genome.wustl.edu	37	chr11	6461398	6461398	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggcccagcagtaccttGatcagaaagacactgttgtg	10	12	10	9	0	1	3	1	1	0	2	1	3	1	3	2	1	2	3	2	1	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6461398G>T	ENST00000265983.3	-	4	433	c.333C>A	c.(331-333)atC>atA	p.I111I	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	111					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCAGTACCTTGATCAGAAAGA	0.537																																																	0													105	93	97					11																	6461398		2201	4296	6497	SO:0001819	synonymous_variant	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.333C>A	11.37:g.6461398G>T			B2R957	Silent	SNP	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.I111	ENST00000265983.3	37	c.333	CCDS7763.1	11																																																																																			HPX	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.537	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	-	0	68	0	G	NM_000613		6461398	-1	tier1	-	no_errors	ENST00000265983	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	T	T	6461398	G	T	6461398	2	4	58	1	0	0	0	0	0	0	0	1	7373	1280	45	3		3	HPX	11	6461398	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	38493	6461398	128545118	1279	15662											
ILK	3611	genome.wustl.edu	37	chr11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-																															aatgaaccgtggggatgacaCccccctgcatctggcagcca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6629392delC	ENST00000396751.2	+	2	662	c.206delC	c.(205-207)accfs	p.T69fs	ILK_ENST00000299421.4_Frame_Shift_Del_p.T69fs|ILK_ENST00000528995.1_Frame_Shift_Del_p.T69fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Frame_Shift_Del_p.T69fs|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	69	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L71fs*26(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGGGATGACACCCCCCTGCAT	0.557																																																	1	Deletion - Frameshift(1)	ovary(1)											98	87	91					11																	6629392		2201	4296	6497	SO:0001589	frameshift_variant	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.206delC	11.37:g.6629392delC	ENSP00000379975:p.Thr69fs		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L71fs	ENST00000396751.2	37	c.206	CCDS7768.1	11																																																																																			ILK	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000166333		0.557	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1		0	91	0	C	NM_004517		6629392	1	tier1		no_errors	ENST00000299421	ensembl	human	known	74_37	frame_shift_del	34.43	40	21	DEL	1.000	-	-	6629392	C	-	6629392	7	5	58	1	0	1	0	1	0	0	0	0	7740	507	18	0	212	0	ILK	11	6629392	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	167994	6629392	128377124	1280	15663											
TPP1	1200	genome.wustl.edu	37	chr11	6638871	6638871	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaccggatgctcagccaGcaagtcagaaagtcctgtgt	10	9	10	12	1	3	1	3	0	1	1	5	2	4	2	3	1	3	2	3	1	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6638871G>T	ENST00000299427.6	-	4	426	c.366C>A	c.(364-366)tgC>tgA	p.C122*	TPP1_ENST00000533371.1_De_novo_Start_OutOfFrame|TPP1_ENST00000534644.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TGCTCAGCCAGCAAGTCAGAA	0.562																																																	0													130	120	123					11																	6638871		2201	4296	6497	SO:0001587	stop_gained	0			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"TPP I"	607998	"ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)", "spinocerebellar ataxia, autosomal recessive 7"	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.366C>A	11.37:g.6638871G>T	ENSP00000299427:p.Cys122*		Q71V64	Nonsense_Mutation	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.C122*	ENST00000299427.6	37	c.366	CCDS7770.1	11	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360062	0.61403	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	.	.	.	5.7	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0311	9.5351	0.39218	0.2178:0.0:0.7822:0.0	.	.	.	.	X	122	.	ENSP00000299427:C122X	C	-	3	2	TPP1	6595447	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.749000	0.55150	0.777000	0.33496	-0.794000	0.03295	TGC	TPP1	-	pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	ENSG00000166340		0.562	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257261.2	-	0	43	0	G			6638871	-1	tier1	-	no_errors	ENST00000299427	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.997	T	T	6638871	G	T	6638871	4	4	58	1	0	0	0	0	0	1	0	0	16459	963	34	3	1365	3	TPP1	11	6638871	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	9479	6638871	128367645	1281	15664											
RIC3	79608	genome.wustl.edu	37	chr11	8161539	8161539	+	Frame_Shift_Del	DEL	A	A	-																															atagaatgtacagtatatatAaaaaaatcccaaaaccgtag																								rs267603218		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:8161539delA	ENST00000309737.6	-	2	325	c.326delT	c.(325-327)ttafs	p.L109fs	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'Flank|RIC3_ENST00000343202.4_Frame_Shift_Del_p.L109fs|RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	109					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTATATATAAAAAAATCCC	0.353																																																	0													64	76	72					11																	8161539		2201	4296	6497	SO:0001589	frameshift_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.326delT	11.37:g.8161539delA	ENSP00000308820:p.Leu109fs		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	NULL	p.L109fs	ENST00000309737.6	37	c.326	CCDS55742.1	11																																																																																			RIC3	-	NULL	ENSG00000166405		0.353	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0	53	0	A	NM_024557		8161539	-1	tier1		no_errors	ENST00000309737	ensembl	human	known	74_37	frame_shift_del	31.88	47	22	DEL	1.000	-	-	8161539	A	-	8161539	7	5	58	1	0	1	0	1	0	0	0	0	13399	372	13	0	800	0	RIC3	11	8161539	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1522668	8161539	126844977	1282	15665											
SCUBE2	57758	genome.wustl.edu	37	chr11	9069061	9069061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgtgcggatggctttaCggagccgcttctcggttcgc	4	11	15	11	6	1	1	0	1	1	0	3	3	1	3	1	4	4	3	1	4	1	4	rs144080898	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:9069061C>T	ENST00000309263.3	-	15	1829	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H	SCUBE2_ENST00000450649.2_Missense_Mutation_p.R460H|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R615H|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R615H			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	586						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R586H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GATGGCTTTACGGAGCCGCTT	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	82	68	73		1379,1844	5.2	1	11	dbSNP_134	73	2,8590	3.0+/-9.4	0,2,4294	yes	missense,missense	SCUBE2	NM_001170690.1,NM_020974.2	29,29	0,3,6494	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	460/808,615/972	9069061	3,12991	2201	4296	6497	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1757G>A	11.37:g.9069061C>T	ENSP00000310658:p.Arg586His		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R615H	ENST00000309263.3	37	c.1844		11	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630560	0.87660	2.27E-4	2.33E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;D	0.84589	-1.3;-1.41;-1.87;-1.51	5.21	5.21	0.72293	.	0.048843	0.85682	D	0.000000	D	0.91355	0.7273	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;P	0.66196	0.942;0.933;0.818	D	0.91946	0.5567	10	0.72032	D	0.01	.	19.1303	0.93402	0.0:1.0:0.0:0.0	.	460;615;586	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	H	615;586;460;615	ENSP00000390481:R615H;ENSP00000310658:R586H;ENSP00000415187:R460H;ENSP00000429969:R615H	ENSP00000310658:R586H	R	-	2	0	SCUBE2	9025637	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.890000	0.69774	2.603000	0.88011	0.655000	0.94253	CGT	SCUBE2	-	NULL	ENSG00000175356		0.567	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	-	0	49	0	C	NM_020974		9069061	-1	tier1	rs144080898	no_errors	ENST00000457346	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	T	T	9069061	C	T	9069061	3	4	58	1	0	0	0	0	1	0	0	0	13990	536	19	1	1274	1	SCUBE2	11	9069061	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	907522	9069061	125937455	1283	15666											
ADM	133	genome.wustl.edu	37	chr11	10328153	10328154	+	Frame_Shift_Ins	INS	-	-	C																															acaagcacacggggctccagINScccccccgagtggaagtgct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:10328153_10328154insC	ENST00000528655.1	+	3	1140_1141	c.523_524insC	c.(523-525)gccfs	p.A175fs	ADM_ENST00000534464.1_Frame_Shift_Ins_p.A128fs|ADM_ENST00000530439.1_Frame_Shift_Ins_p.A107fs|ADM_ENST00000525063.1_Frame_Shift_Ins_p.A175fs|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000278175.5_Frame_Shift_Ins_p.A175fs			P35318	ADML_HUMAN	adrenomedullin	175					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.S178fs*>9(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CGGGGCTCCAGCCCCCCCGAGT	0.678																																																	1	Insertion - Frameshift(1)	large_intestine(1)								15,4077		0,15,2031						0.2	0			19	17,7905		0,17,3944	no	frameshift	ADM	NM_001124.1		0,32,5975	A1A1,A1R,RR		0.2146,0.3666,0.2664				32,11982				SO:0001589	frameshift_variant	0			D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"Endogenous ligands"	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.530dupC	11.37:g.10328160_10328160dupC	ENSP00000436607:p.Ala175fs		B2R793|D3DQV3|Q6FGW2	Frame_Shift_Ins	INS	pfam_Procalcitonin/adrenomedullin,prints_Adrenomedullin	p.S178fs	ENST00000528655.1	37	c.523_524	CCDS7801.1	11																																																																																			ADM	-	prints_Adrenomedullin	ENSG00000148926		0.678	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADM	HGNC	protein_coding	OTTHUMT00000387008.1		0	44	0	-	NM_001124		10328154	1	tier1		no_errors	ENST00000278175	ensembl	human	known	74_37	frame_shift_ins	15.79	32	6	INS	0.000:0.000	C	C	10328154	-	C	10328153	7	5	58	1	0	1	1	0	0	0	0	0	321	971	34	0	533	0	ADM	11	10328153	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1259092	10328153	124678363	1284	15667											
USP47	55031	genome.wustl.edu	37	chr11	11969622	11969622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaatcaagagtttgagagCgtccggctgaatgagacact	13	8	12	8	2	1	4	1	3	0	3	2	6	2	4	1	1	2	3	1	1	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:11969622C>T	ENST00000399455.2	+	22	3402	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	USP47_ENST00000527733.1_Silent_p.S1074S|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Silent_p.S1006S	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1094					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AGTTTGAGAGCGTCCGGCTGA	0.383																																																	0													145	132	136					11																	11969622		1839	4096	5935	SO:0001819	synonymous_variant	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3282C>T	11.37:g.11969622C>T			B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S1094	ENST00000399455.2	37	c.3282		11																																																																																			USP47	-	NULL	ENSG00000170242		0.383	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	-	0	24	0	C	NM_017944		11969622	1	tier1	-	no_errors	ENST00000399455	ensembl	human	known	74_37	silent	41.67	28	20	SNP	1.000	T	T	11969622	C	T	11969622	2	4	58	1	0	0	0	0	0	0	0	1	17127	767	27	1		1	USP47	11	11969622	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1641469	11969622	123036894	1285	15668											
COPB1	1315	genome.wustl.edu	37	chr11	14486551	14486551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaagagtcaaaggagaCggcttttccacaagtttcag	13	8	12	8	1	2	2	2	0	0	2	3	4	3	3	1	3	1	3	1	3	3	3	rs567593749		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:14486551C>T	ENST00000249923.3	-	18	2616	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	COPB1_ENST00000439561.2_Silent_p.P772P	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	772					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCAAAGGAGACGGCTTTTCCA	0.388													C|||	1	0.000199681	0	0.0014	5008	,	,		15560	0		0	False		,,,				2504	0																0													90	89	89					11																	14486551		2200	4294	6494	SO:0001819	synonymous_variant	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2316G>A	11.37:g.14486551C>T			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.P772	ENST00000249923.3	37	c.2316	CCDS7815.1	11																																																																																			COPB1	-	pfam_Coatomer_bsu_C,pirsf_COPB1	ENSG00000129083		0.388	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0	46	0	C	NM_016451		14486551	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	silent	45.00	22	18	SNP	0.443	T	T	14486551	C	T	14486551	2	4	58	1	0	0	0	0	0	0	0	1	3735	523	19	1		1	COPB1	11	14486551	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2516929	14486551	120519965	1286	15669											
ABCC8	6833	genome.wustl.edu	37	chr11	17414565	17414565	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcacggacgaaggaggcGaagacgctgtccttccggct	8	7	14	12	5	1	1	0	0	1	1	3	5	3	3	2	4	1	3	2	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:17414565G>A	ENST00000389817.3	-	39	4787	c.4719C>T	c.(4717-4719)ttC>ttT	p.F1573F	ABCC8_ENST00000302539.4_Silent_p.F1574F			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1573	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CGAAGGAGGCGAAGACGCTGT	0.572																																																	0													117	97	104					11																	17414565		2200	4293	6493	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4719C>T	11.37:g.17414565G>A			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F1574	ENST00000389817.3	37	c.4722	CCDS31437.1	11																																																																																			ABCC8	-	pfscan_ABC_transporter-like	ENSG00000006071		0.572	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	65	0	G	NM_000352		17414565	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	34.78	30	16	SNP	0.980	A	A	17414565	G	A	17414565	2	1	58	1	0	0	0	0	0	0	0	1	58	1049	37	1		1	ABCC8	11	17414565	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2928014	17414565	117591951	1287	15670											
MYOD1	4654	genome.wustl.edu	37	chr11	17741518	17741518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaacccgaagagcactcGcacttccccgcggcggtgca	9	5	11	16	5	0	2	0	1	0	1	2	3	1	2	3	2	3	3	3	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:17741518G>A	ENST00000250003.3	+	1	404	c.189G>A	c.(187-189)tcG>tcA	p.S63S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	63					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						AAGAGCACTCGCACTTCCCCG	0.711																																																	0													21	23	22					11																	17741518		2199	4292	6491	SO:0001819	synonymous_variant	0			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"Basic helix-loop-helix proteins"	7611	protein-coding gene	gene with protein product	"myoblast determination protein 1"	159970	"myogenic factor 3"	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.189G>A	11.37:g.17741518G>A			O75321	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.S63	ENST00000250003.3	37	c.189	CCDS7826.1	11																																																																																			MYOD1	-	pfam_Basic,smart_Basic	ENSG00000129152		0.711	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOD1	HGNC	protein_coding	OTTHUMT00000389387.1	-	0	28	0	G	NM_002478		17741518	1	tier1	-	no_errors	ENST00000250003	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.801	A	A	17741518	G	A	17741518	2	1	58	1	0	0	0	0	0	0	0	1	10126	1074	38	1		1	MYOD1	11	17741518	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	326953	17741518	117264998	1288	15671											
UEVLD	55293	genome.wustl.edu	37	chr11	18566189	18566189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtcttctccttgctcGccaataacccatacttcttt	6	17	3	15	1	3	0	0	0	3	0	5	0	3	0	4	0	3	1	4	0	3	7	rs546060237		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:18566189G>A	ENST00000541984.1	-	6	632	c.570C>T	c.(568-570)ggC>ggT	p.G190G	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000396197.3_Silent_p.G347G|UEVLD_ENST00000320750.6_Silent_p.G325G|UEVLD_ENST00000379387.4_Silent_p.G325G|UEVLD_ENST00000543987.1_Silent_p.G347G|UEVLD_ENST00000535484.1_Silent_p.G309G	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTCCTTGCTCGCCAATAACCC	0.428																																																	0													220	203	209					11																	18566189		2199	4293	6492	SO:0001819	synonymous_variant	0			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.570C>T	11.37:g.18566189G>A				Silent	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.G347	ENST00000541984.1	37	c.1041	CCDS58125.1	11																																																																																			UEVLD	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	ENSG00000151116		0.428	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395928.1	-	0	30	0	G	NM_018314		18566189	-1	tier1	-	no_errors	ENST00000396197	ensembl	human	known	74_37	silent	45.16	17	14	SNP	0.964	A	A	18566189	G	A	18566189	2	1	58	1	0	0	0	0	0	0	0	1	16982	1074	38	1		1	UEVLD	11	18566189	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	824671	18566189	116440327	1289	15672											
NAV2	89797	genome.wustl.edu	37	chr11	19735426	19735426	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccccctgaaatcgcaggTgctgcaggggctgcaggagc	8	6	15	12	1	0	1	0	1	0	0	2	3	1	2	2	4	4	5	2	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:19735426T>G	ENST00000396087.3	+	1	284	c.185T>G	c.(184-186)gTg>gGg	p.V62G	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.V62G|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000396085.1_Missense_Mutation_p.V62G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	62					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.V62A(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAATCGCAGGTGCTGCAGGGG	0.662																																																	1	Substitution - Missense(1)	large_intestine(1)											27	30	29					11																	19735426		2198	4293	6491	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.185T>G	11.37:g.19735426T>G	ENSP00000379396:p.Val62Gly		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.V62G	ENST00000396087.3	37	c.185	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	T	9.018	0.984077	0.18889	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59638	0.25;0.25;0.25	0.427	-0.748	0.11087	.	.	.	.	.	T	0.27454	0.0674	N	0.08118	0	0.58432	D	0.999999	B	0.29955	0.263	B	0.17722	0.019	T	0.05402	-1.0887	7	.	.	.	.	.	.	.	.	62	Q8IVL1-3	.	G	62	ENSP00000379394:V62G;ENSP00000309577:V62G;ENSP00000379396:V62G	.	V	+	2	0	NAV2	19692002	0.098000	0.21812	0.973000	0.42090	0.955000	0.61496	-0.691000	0.05133	-0.455000	0.07054	-0.456000	0.05471	GTG	NAV2	-	superfamily_CH-domain	ENSG00000166833		0.662	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	63	0	T	NM_145117		19735426	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	46.94	26	23	SNP	0.964	G	G	19735426	T	G	19735426	3	3	58	1	0	0	0	0	1	0	0	0	10222	1696	59	4	266	4	NAV2	11	19735426	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1169237	19735426	115271090	1290	15673											
DBX1	120237	genome.wustl.edu	37	chr11	20177882	20177882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcggccctggcagccGcgggtcccgcaggtgctggg	3	4	20	14	4	0	0	0	0	0	0	1	0	1	0	3	6	3	4	3	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:20177882G>A	ENST00000524983.2	-	4	1198	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DBX1_ENST00000227256.3_Missense_Mutation_p.R343W			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	304					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCTGGCAGCCGCGGGTCCCGC	0.716																																																	0													19	25	23					11																	20177882		2171	4241	6412	SO:0001583	missense	0					11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.910C>T	11.37:g.20177882G>A	ENSP00000436881:p.Arg304Trp			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R343W	ENST00000524983.2	37	c.1027		11	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880350	0.51801	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91295	-2.82;0.07	4.53	3.58	0.41010	.	0.106116	0.37761	N	0.001954	D	0.87418	0.6172	L	0.27053	0.805	0.29985	N	0.81735	D	0.67145	0.996	P	0.50754	0.649	D	0.84635	0.0692	10	0.72032	D	0.01	-21.6625	11.2874	0.49230	0.0:0.0:0.6685:0.3315	.	343	F8W811	.	W	304;343	ENSP00000436881:R304W;ENSP00000227256:R343W	ENSP00000227256:R343W	R	-	1	2	DBX1	20134458	0.082000	0.21442	0.084000	0.20598	0.415000	0.31203	0.583000	0.23849	0.847000	0.35167	0.655000	0.94253	CGG	DBX1	-	NULL	ENSG00000109851		0.716	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	-	0	50	0	G	NM_001029865		20177882	-1	tier1	-	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	57.14	18	24	SNP	0.583	A	A	20177882	G	A	20177882	3	1	58	1	0	0	0	0	1	0	0	0	4268	1086	38	1	125	1	DBX1	11	20177882	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	442456	20177882	114828634	1291	15674											
HTATIP2	10553	genome.wustl.edu	37	chr11	20388803	20388803	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggattctgttgcctgggTaccaccagagggaaagctgg	8	10	15	8	0	1	1	0	0	1	1	1	3	1	3	3	4	3	4	3	4	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:20388803T>C	ENST00000451739.2	+	2	720	c.279T>C	c.(277-279)ggT>ggC	p.G93G	HTATIP2_ENST00000443524.2_Silent_p.G93G|HTATIP2_ENST00000532505.1_Silent_p.G93G|HTATIP2_ENST00000531058.1_Silent_p.G93G|HTATIP2_ENST00000419348.2_Silent_p.G127G|HTATIP2_ENST00000421577.2_Silent_p.G93G|HTATIP2_ENST00000530266.1_Silent_p.G93G|HTATIP2_ENST00000532081.1_Silent_p.G93G	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTTGCCTGGGTACCACCAGAG	0.463																																																	0													245	236	239					11																	20388803		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.279T>C	11.37:g.20388803T>C				Silent	SNP	pfam_Semialdehyde_DH_NAD-bd	p.G127	ENST00000451739.2	37	c.381	CCDS7852.1	11																																																																																			HTATIP2	-	pfam_Semialdehyde_DH_NAD-bd	ENSG00000109854		0.463	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	HGNC	protein_coding	OTTHUMT00000387445.2	-	0	53	0	T	NM_001098521		20388803	1	tier1	-	no_errors	ENST00000419348	ensembl	human	known	74_37	silent	48.96	48	47	SNP	0.995	C	C	20388803	T	C	20388803	2	2	58	1	0	0	0	0	0	0	0	1	7459	1625	57	4		4	HTATIP2	11	20388803	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	210921	20388803	114617713	1292	15675											
FANCF	2188	genome.wustl.edu	37	chr11	22646528	22646528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaccccagtctgttagcaGacccagatagacaggagaca	13	7	10	11	0	1	5	0	1	1	4	1	6	1	5	3	1	1	2	3	1	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:22646528G>A	ENST00000327470.3	-	1	859	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	277					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L277V(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TCTGTTAGCAGACCCAGATAG	0.537			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	1	Substitution - Missense(1)	lung(1)											55	62	59					11																	22646528		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.829C>T	11.37:g.22646528G>A		757	Q52LM0	Silent	SNP	NULL	p.L277	ENST00000327470.3	37	c.829	CCDS7857.1	11																																																																																			FANCF	-	NULL	ENSG00000183161		0.537	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCF	HGNC	protein_coding	OTTHUMT00000387712.2	-	0	27	0	G	NM_022725		22646528	-1	tier1	-	no_errors	ENST00000327470	ensembl	human	known	74_37	silent	41.18	20	14	SNP	0.592	A	A	22646528	G	A	22646528	2	1	58	1	0	0	0	0	0	0	0	1	5689	933	33	3		3	FANCF	11	22646528	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2257725	22646528	112359988	1293	15676											
METT5D1	196074	genome.wustl.edu	37	chr11	28318379	28318379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctatcctaagaacatacGgggaggagaagcatgccaag	15	6	11	9	1	1	2	0	0	1	2	2	4	2	3	2	3	4	1	2	3	6	3	rs145080229	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:28318379G>A	ENST00000407364.3	+	6	1031	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	METTL15_ENST00000342303.5_Missense_Mutation_p.G227R|METTL15_ENST00000303459.6_Missense_Mutation_p.G227R|METTL15_ENST00000406787.3_Missense_Mutation_p.R212Q			A6NJ78	MET15_HUMAN	methyltransferase like 15	227							methyltransferase activity (GO:0008168)	p.G227W(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGAACATACGGGGAGGAGAA	0.507																																																	2	Substitution - Missense(2)	lung(2)						G	ARG/GLY,ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	127	109	115		679,679	5.4	1	11	dbSNP_134	115	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	METTL15	NM_001113528.1,NM_152636.2	125,125	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	227/408,227/274	28318379	2,13000	2202	4299	6501	SO:0001583	missense	0			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.679G>A	11.37:g.28318379G>A	ENSP00000384369:p.Gly227Arg		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH	p.G227R	ENST00000407364.3	37	c.679	CCDS44559.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.119889|3.119889	0.56613|0.56613	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000169519|ENSG00000169519	ENST00000342303;ENST00000407364;ENST00000303459|ENST00000406787	T;T;T|T	0.69040|0.30448	-0.37;-0.37;-0.37|1.53	5.43|5.43	5.43|5.43	0.79202|0.79202	S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67767|0.67767	0.2928|0.2928	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.76494	1.0;1.0|0.999	D;D|P	0.91635|0.55785	0.999;0.986|0.784	T|T	0.82552|0.82552	-0.0400|-0.0400	9|8	.|.	.|.	.|.	.|.	18.2327|18.2327	0.89939|0.89939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227;227|212	A6NJ78;A6NJ78-2|A6NJ78-4	MET15_HUMAN;.|.	R|Q	227|212	ENSP00000342259:G227R;ENSP00000384369:G227R;ENSP00000307251:G227R|ENSP00000385507:R212Q	.|.	G|R	+|+	1|2	0|0	METTL15|METTL15	28274955|28274955	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.849000|0.849000	0.48306|0.48306	9.408000|9.408000	0.97327|0.97327	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	GGG|CGG	METTL15	-	pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH	ENSG00000169519		0.507	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	METTL15	HGNC	protein_coding	OTTHUMT00000318135.2	-	0	102	0	G	NM_152636		28318379	1	tier1	rs145080229	no_errors	ENST00000303459	ensembl	human	known	74_37	missense	32.84	44	22	SNP	1.000	A	A	28318379	G	A	28318379	3	1	58	1	0	0	0	0	1	0	0	0	9530	1116	39	1	693	1	METT5D1	11	28318379	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5671851	28318379	106688137	1294	15677											
MPPED2	744	genome.wustl.edu	37	chr11	30433064	30433064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atataattggagggttggtcGgttgaaagctgactgtacac	11	12	13	5	1	0	2	0	2	0	0	1	3	0	3	0	4	2	4	0	4	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:30433064G>A	ENST00000358117.5	-	6	958	c.836C>T	c.(835-837)cCg>cTg	p.P279L	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	279					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						AGGGTTGGTCGGTTGAAAGCT	0.463																																																	0													133	106	115					11																	30433064		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"chromosome 11 open reading frame 8"	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.836C>T	11.37:g.30433064G>A	ENSP00000350833:p.Pro279Leu		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.P279L	ENST00000358117.5	37	c.836	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193381	0.78902	.	.	ENSG00000066382	ENST00000358117	T	0.59638	0.25	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64976	-0.6280	10	0.17369	T	0.5	-8.8591	20.2825	0.98528	0.0:0.0:1.0:0.0	.	279	Q15777	MPPD2_HUMAN	L	279	ENSP00000350833:P279L	ENSP00000350833:P279L	P	-	2	0	MPPED2	30389640	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	CCG	MPPED2	-	NULL	ENSG00000066382		0.463	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0	97	0	G	NM_001584		30433064	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	7.23	77	6	SNP	1.000	A	A	30433064	G	A	30433064	3	1	58	1	0	0	0	0	1	0	0	0	9780	1116	39	1	124	1	MPPED2	11	30433064	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2114685	30433064	104573452	1295	15678											
ELP4	26610	genome.wustl.edu	37	chr11	31561258	31561258	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcttcaagtatttcctGgcagaaggaattgtcaatgg	10	14	10	7	0	3	1	2	0	1	1	4	2	4	2	1	3	1	3	1	3	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:31561258G>T	ENST00000350638.5	+	3	344	c.309G>T	c.(307-309)ctG>ctT	p.L103L	ELP4_ENST00000395934.2_Silent_p.L103L|ELP4_ENST00000379163.5_Silent_p.L103L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	103					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGTATTTCCTGGCAGAAGGAA	0.338																																																	0													195	162	172					11																	31561258		1821	4077	5898	SO:0001819	synonymous_variant	0			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.309G>T	11.37:g.31561258G>T			B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase	p.L103	ENST00000350638.5	37	c.309	CCDS7875.2	11																																																																																			ELP4	-	pfam_Elongator_complex_protein_4	ENSG00000109911		0.338	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	HGNC	protein_coding	OTTHUMT00000286640.1	-	0	63	0	G	NM_019040		31561258	1	tier1	-	no_errors	ENST00000395934	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	31561258	G	T	31561258	2	4	58	1	0	0	0	0	0	0	0	1	5098	1335	47	3		3	ELP4	11	31561258	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1128194	31561258	103445258	1296	15679											
NAT10	55226	genome.wustl.edu	37	chr11	34158541	34158541	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttctggaaacgagctGgatttgttcctgtttatctg	7	15	12	7	1	2	0	0	0	2	0	3	3	3	2	1	3	2	5	1	3	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:34158541G>T	ENST00000257829.3	+	21	2385	c.2179G>T	c.(2179-2181)Gga>Tga	p.G727*	NAT10_ENST00000531159.2_Nonsense_Mutation_p.G655*|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	727	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.|Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.G727*(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAACGAGCTGGATTTGTTCC	0.512																																																	1	Substitution - Nonsense(1)	lung(1)											138	125	129					11																	34158541		2202	4298	6500	SO:0001587	stop_gained	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2179G>T	11.37:g.34158541G>T	ENSP00000257829:p.Gly727*		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Nonsense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.G727*	ENST00000257829.3	37	c.2179	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.702101	0.98920	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-17.252	18.4653	0.90752	0.0:0.0:1.0:0.0	.	.	.	.	X	727;655	.	ENSP00000257829:G727X	G	+	1	0	NAT10	34115117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.651000	0.98493	2.346000	0.79739	0.561000	0.74099	GGA	NAT10	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000135372		0.512	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	-	0	82	0	G	NM_024662		34158541	1	tier1	-	no_errors	ENST00000257829	ensembl	human	known	74_37	nonsense	6.94	67	5	SNP	1.000	T	T	34158541	G	T	34158541	4	4	58	1	0	0	0	0	0	1	0	0	10212	1349	47	3	2257	3	NAT10	11	34158541	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2597283	34158541	100847975	1297	15680											
ALX4	60529	genome.wustl.edu	37	chr11	44286624	44286624	+	Frame_Shift_Del	DEL	G	G	-																															cgctgctggccccagagccaGgggggtgggcatgaggggac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:44286624delG	ENST00000329255.3	-	4	1119	c.1016delC	c.(1015-1017)cctfs	p.P339fs		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	339					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCAGAGCCAGGGGGGTGGGC	0.692																																																	0													26	27	27					11																	44286624		2200	4297	6497	SO:0001589	frameshift_variant	0			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1016delC	11.37:g.44286624delG	ENSP00000332744:p.Pro339fs		Q96JN7|Q9H198|Q9HAY9	Frame_Shift_Del	DEL	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.P339fs	ENST00000329255.3	37	c.1016	CCDS31468.1	11																																																																																			ALX4	-	NULL	ENSG00000052850		0.692	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1		0	65	0	G			44286624	-1	tier1		no_errors	ENST00000329255	ensembl	human	known	74_37	frame_shift_del	33.87	41	21	DEL	0.977	-	-	44286624	G	-	44286624	7	5	58	1	0	1	0	1	0	0	0	0	558	1000	35	0	223	0	ALX4	11	44286624	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	10128083	44286624	90719892	1298	15681											
CRY2	1408	genome.wustl.edu	37	chr11	45891125	45891125	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagagttcttctacacGgcagctaccaacaaccccag	11	7	9	14	2	2	1	0	0	2	1	2	2	2	1	3	2	5	3	3	2	4	4	rs372182284		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:45891125G>T	ENST00000443527.2	+	7	1036	c.1014G>T	c.(1012-1014)acG>acT	p.T338T	CRY2_ENST00000417225.2_Silent_p.T256T	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	317					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.T317T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCTTCTACACGGCAGCTACCA	0.587																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												1	Substitution - coding silent(1)	prostate(1)											124	117	120					11																	45891125		2203	4299	6502	SO:0001819	synonymous_variant	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1014G>T	11.37:g.45891125G>T			B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.T338	ENST00000443527.2	37	c.1014	CCDS7915.2	11																																																																																			CRY2	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000121671		0.587	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2		0	73	0	G	NM_021117		45891125	1			no_errors	ENST00000443527	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.986	T	T	45891125	G	T	45891125	2	4	58	1	0	0	0	0	0	0	0	1	3911	1103	39	2		2	CRY2	11	45891125	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1604501	45891125	89115391	1299	15682											
MADD	8567	genome.wustl.edu	37	chr11	47310955	47310955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacaggaaacaggagggcGttagtggatcagaagtcatc	13	6	14	8	1	2	1	2	0	0	1	3	4	2	4	1	4	1	1	1	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:47310955G>A	ENST00000311027.5	+	17	2892	c.2727G>A	c.(2725-2727)gcG>gcA	p.A909A	MADD_ENST00000407859.3_Silent_p.A866A|MADD_ENST00000349238.3_Silent_p.A909A|MADD_ENST00000406482.1_Silent_p.A846A|MADD_ENST00000395344.3_Silent_p.A846A|MADD_ENST00000342922.4_Silent_p.A889A|MADD_ENST00000402799.1_Silent_p.A846A|MADD_ENST00000395336.3_Silent_p.A909A|MADD_ENST00000402192.2_Silent_p.A889A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACAGGAGGGCGTTAGTGGATC	0.488																																																	0													236	224	228					11																	47310955		2201	4298	6499	SO:0001819	synonymous_variant	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2727G>A	11.37:g.47310955G>A				Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A909	ENST00000311027.5	37	c.2727	CCDS7930.1	11																																																																																			MADD	-	NULL	ENSG00000110514		0.488	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	-	0	66	0	G			47310955	1	tier1	-	no_errors	ENST00000311027	ensembl	human	known	74_37	silent	36.84	36	21	SNP	0.955	A	A	47310955	G	A	47310955	2	1	58	1	0	0	0	0	0	0	0	1	9188	1132	40	1		1	MADD	11	47310955	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1419830	47310955	87695561	1300	15683											
OR5D14	219436	genome.wustl.edu	37	chr11	55563149	55563149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctcatgtatgttatcAcagtggtaggaaaccttggg	9	14	11	7	0	3	0	2	0	1	0	3	1	3	1	1	3	2	4	1	3	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:55563149A>G	ENST00000335605.1	+	1	118	c.118A>G	c.(118-120)Aca>Gca	p.T40A		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTATGTTATCACAGTGGTAGG	0.398																																																	0													181	166	171					11																	55563149		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.118A>G	11.37:g.55563149A>G	ENSP00000334456:p.Thr40Ala		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T40A	ENST00000335605.1	37	c.118	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	a	7.131	0.579969	0.13686	.	.	ENSG00000186113	ENST00000335605	T	0.03330	3.97	5.08	3.93	0.45458	.	0.146450	0.31601	N	0.007378	T	0.04907	0.0132	M	0.63208	1.945	0.09310	N	0.999995	P	0.39748	0.686	B	0.37239	0.244	T	0.34650	-0.9820	10	0.72032	D	0.01	-10.1101	5.6717	0.17725	0.764:0.0:0.0835:0.1524	.	40	Q8NGL3	OR5DE_HUMAN	A	40	ENSP00000334456:T40A	ENSP00000334456:T40A	T	+	1	0	OR5D14	55319725	0.989000	0.36119	0.006000	0.13384	0.006000	0.05464	6.258000	0.72487	0.756000	0.33013	0.523000	0.50628	ACA	OR5D14	-	prints_GPCR_Rhodpsn	ENSG00000186113		0.398	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0	154	0	A	NM_001004735		55563149	1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	30.67	104	46	SNP	0.309	G	G	55563149	A	G	55563149	3	3	58	1	0	0	0	0	1	0	0	0	11194	159	6	4	120	4	OR5D14	11	55563149	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	8252194	55563149	79443367	1301	15684											
OR10AG1	282770	genome.wustl.edu	37	chr11	55735743	55735743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcttgggataatgattGttacataacagatttccaaa	14	14	7	6	0	1	2	0	1	1	1	2	3	2	3	1	1	2	2	1	1	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:55735743G>T	ENST00000312345.2	-	1	247	c.197C>A	c.(196-198)aCa>aAa	p.T66K		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GATAATGATTGTTACATAACA	0.338																																																	0													66	73	71					11																	55735743		2200	4296	6496	SO:0001583	missense	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"GPCR / Class A : Olfactory receptors"	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.197C>A	11.37:g.55735743G>T	ENSP00000311477:p.Thr66Lys		B2RNH4|Q6IEU3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T66K	ENST00000312345.2	37	c.197	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486988	0.26686	.	.	ENSG00000174970	ENST00000312345	T	0.00397	7.57	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.424789	0.20201	N	0.097083	T	0.00666	0.0022	M	0.91872	3.25	0.09310	N	1	P	0.48503	0.911	B	0.42062	0.374	T	0.40289	-0.9571	10	0.87932	D	0	.	16.4263	0.83815	0.0:0.0:1.0:0.0	.	66	Q8NH19	O10AG_HUMAN	K	66	ENSP00000311477:T66K	ENSP00000311477:T66K	T	-	2	0	OR10AG1	55492319	0.906000	0.30813	0.007000	0.13788	0.199000	0.23934	3.099000	0.50267	2.475000	0.83589	0.477000	0.44152	ACA	OR10AG1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174970		0.338	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	-	0	38	0	G	NM_001005491		55735743	-1	tier1	-	no_errors	ENST00000312345	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.022	T	T	55735743	G	T	55735743	3	4	58	1	0	0	0	0	1	0	0	0	10936	1377	48	3	711	3	OR10AG1	11	55735743	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	172594	55735743	79270773	1302	15685											
OR5AR1	219493	genome.wustl.edu	37	chr11	56431959	56431959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggccaacatccagctaCtccctggaccaagacaagtg	12	6	9	14	0	0	2	0	1	0	1	2	3	2	3	4	2	3	1	4	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:56431959C>T	ENST00000302969.2	+	1	822	c.798C>T	c.(796-798)taC>taT	p.Y266Y		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATCCAGCTACTCCCTGGACC	0.507																																																	0													110	98	102					11																	56431959		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.798C>T	11.37:g.56431959C>T			Q6IF61	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y266	ENST00000302969.2	37	c.798	CCDS31535.1	11																																																																																			OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172459		0.507	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	-	0	44	0	C	NM_001004730		56431959	1	tier1	-	no_errors	ENST00000302969	ensembl	human	known	74_37	silent	36.00	32	18	SNP	1.000	T	T	56431959	C	T	56431959	2	4	58	1	0	0	0	0	0	0	0	1	11184	576	20	3		3	OR5AR1	11	56431959	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	696216	56431959	78574557	1303	15686											
APLNR	187	genome.wustl.edu	37	chr11	57003870	57003870	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccacggtggtggacgaGaccccaaggcccacctccca	10	3	11	17	2	0	1	0	0	0	1	1	3	1	2	6	4	1	0	6	4	2	0	rs568430607		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:57003870G>T	ENST00000606794.1	-	1	805	c.609C>A	c.(607-609)gtC>gtA	p.V203V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	203					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTGGACGAGACCCCAAGGC	0.592																																																	0													123	101	108					11																	57003870		2201	4296	6497	SO:0001819	synonymous_variant	0			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.609C>A	11.37:g.57003870G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.V203	ENST00000606794.1	37	c.609	CCDS7950.1	11																																																																																			APLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	ENSG00000134817		0.592	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	-	0	55	0	G	NM_005161		57003870	-1	tier1	-	no_errors	ENST00000257254	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.871	T	T	57003870	G	T	57003870	2	4	58	1	0	0	0	0	0	0	0	1	777	929	33	3		3	APLNR	11	57003870	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	571911	57003870	78002646	1304	15687											
CLP1	10978	genome.wustl.edu	37	chr11	57428888	57428888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctcatcatggatatcCggttcatggatctgaagtag	9	14	9	9	1	4	1	3	1	2	0	7	3	6	3	2	3	0	2	2	3	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:57428888C>T	ENST00000302731.4	+	3	1186	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	CLP1_ENST00000529430.1_Missense_Mutation_p.R431W|CLP1_ENST00000525602.1_Missense_Mutation_p.R420W|CLP1_ENST00000533682.1_Missense_Mutation_p.R420W	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CATGGATATCCGGTTCATGGA	0.522																																																	0													104	94	98					11																	57428888		2201	4296	6497	SO:0001583	missense	0			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"ATP/GTPbinding protein", "polyribonucleotide 5'-hydroxyl-kinase"	608757	"CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.1066C>T	11.37:g.57428888C>T	ENSP00000304704:p.Arg356Trp		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.R420W	ENST00000302731.4	37	c.1258	CCDS44600.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356335	0.82243	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	6.07	5.15	0.70609	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.97	T	0.63314	-0.6665	10	0.72032	D	0.01	-2.5213	14.1463	0.65353	0.2729:0.7271:0.0:0.0	.	356;420	Q92989-2;Q92989	.;CLP1_HUMAN	W	431;420;420;356	ENSP00000433406:R431W;ENSP00000434995:R420W;ENSP00000436066:R420W;ENSP00000304704:R356W	ENSP00000304704:R356W	R	+	1	2	CLP1	57185464	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.784000	0.55416	1.565000	0.49641	0.650000	0.86243	CGG	CLP1	-	pfam_Pre-mRNA_cleavage_cplxII_Clp1	ENSG00000172409		0.522	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	HGNC	protein_coding	OTTHUMT00000393465.1	-	0	28	0	C	NM_006831		57428888	1	tier1	-	no_errors	ENST00000525602	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	T	T	57428888	C	T	57428888	3	4	58	1	0	0	0	0	1	0	0	0	3557	643	23	1	1264	1	CLP1	11	57428888	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	425018	57428888	77577628	1305	15688											
OR5B12	390191	genome.wustl.edu	37	chr11	58207226	58207226	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacatacatttgttgtcatGgtggtggtgtaatgcagggg	8	13	15	5	0	1	0	1	0	0	0	1	0	1	0	0	5	2	4	0	5	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:58207226G>T	ENST00000302572.2	-	1	420	c.399C>A	c.(397-399)acC>acA	p.T133T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGTTGTCATGGTGGTGGTGT	0.468																																																	0													143	135	138					11																	58207226		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.399C>A	11.37:g.58207226G>T			B2RNL2|Q6IEV5	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.T133	ENST00000302572.2	37	c.399	CCDS31551.1	11																																																																																			OR5B12	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172362		0.468	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B12	HGNC	protein_coding	OTTHUMT00000394987.1	-	0	87	0	G	NM_001004733		58207226	-1	tier1	-	no_errors	ENST00000302572	ensembl	human	known	74_37	silent	33.06	81	40	SNP	0.135	T	T	58207226	G	T	58207226	2	4	58	1	0	0	0	0	0	0	0	1	11187	1335	47	3		3	OR5B12	11	58207226	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	778338	58207226	76799290	1306	15689											
FAM111B	374393	genome.wustl.edu	37	chr11	58892343	58892343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagtccatggtggatgAagtatctggaaaagtcttag	15	10	11	5	0	2	1	0	1	2	0	3	3	3	3	1	3	1	1	1	3	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:58892343A>G	ENST00000343597.3	+	4	964	c.773A>G	c.(772-774)gAa>gGa	p.E258G	FAM111B_ENST00000529618.1_Missense_Mutation_p.E228G|FAM111B_ENST00000411426.1_Missense_Mutation_p.E228G	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	258							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATGGTGGATGAAGTATCTGGA	0.333																																																	0													51	53	53					11																	58892343		2197	4291	6488	SO:0001583	missense	0			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.773A>G	11.37:g.58892343A>G	ENSP00000341565:p.Glu258Gly		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Trypsin-like_Pept_dom	p.E258G	ENST00000343597.3	37	c.773	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	A	12.75	2.032003	0.35893	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.33216	1.42;1.42;1.42	4.18	1.71	0.24356	.	1.072870	0.07314	N	0.876472	T	0.27559	0.0677	L	0.59436	1.845	0.09310	N	1	P	0.43750	0.816	B	0.37144	0.242	T	0.22765	-1.0207	10	0.59425	D	0.04	.	5.3794	0.16183	0.4758:0.3534:0.0:0.1708	.	258	Q6SJ93	F111B_HUMAN	G	228;228;258	ENSP00000393855:E228G;ENSP00000432875:E228G;ENSP00000341565:E258G	ENSP00000341565:E258G	E	+	2	0	FAM111B	58648919	0.002000	0.14202	0.007000	0.13788	0.529000	0.34654	1.065000	0.30592	0.221000	0.20879	0.533000	0.62120	GAA	FAM111B	-	NULL	ENSG00000189057		0.333	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	-	0	25	0	A	NM_198947		58892343	1	tier1	-	no_errors	ENST00000343597	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.001	G	G	58892343	A	G	58892343	3	3	58	1	0	0	0	0	1	0	0	0	5419	246	9	4	779	4	FAM111B	11	58892343	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	685117	58892343	76114173	1307	15690											
FAM111B	374393	genome.wustl.edu	37	chr11	58893105	58893105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagatataattagcaaatGtgcgaaggtaaccttcactt	14	11	8	8	1	1	1	1	0	0	1	1	2	1	1	2	1	3	2	2	1	6	6	rs373825314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:58893105G>T	ENST00000343597.3	+	4	1726	c.1535G>T	c.(1534-1536)tGt>tTt	p.C512F	FAM111B_ENST00000529618.1_Missense_Mutation_p.C482F|FAM111B_ENST00000411426.1_Missense_Mutation_p.C482F	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	512							catalytic activity (GO:0003824)	p.C512Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATTAGCAAATGTGCGAAGGTA	0.388																																																	1	Substitution - Missense(1)	endometrium(1)						G	PHE/CYS,PHE/CYS,PHE/CYS	0,4402		0,0,2201	107	102	104		1535,1445,1445	0.3	0	11		104	1,8587		0,1,4293	no	missense,missense,missense	FAM111B	NM_198947.3,NM_001142704.1,NM_001142703.1	205,205,205	0,1,6494	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign	512/735,482/705,482/705	58893105	1,12989	2201	4294	6495	SO:0001583	missense	0			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1535G>T	11.37:g.58893105G>T	ENSP00000341565:p.Cys512Phe		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Trypsin-like_Pept_dom	p.C512F	ENST00000343597.3	37	c.1535	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815360	0.32053	0.0	1.16E-4	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	D;D;D	0.87966	-2.32;-2.32;-2.32	4.33	0.306	0.15806	Peptidase cysteine/serine, trypsin-like (1);	0.759845	0.11813	N	0.526926	D	0.82733	0.5101	M	0.75777	2.31	0.09310	N	1	B	0.18013	0.025	B	0.20577	0.03	T	0.73528	-0.3954	10	0.72032	D	0.01	.	0.798	0.01069	0.2852:0.1627:0.3846:0.1676	.	512	Q6SJ93	F111B_HUMAN	F	482;482;512	ENSP00000393855:C482F;ENSP00000432875:C482F;ENSP00000341565:C512F	ENSP00000341565:C512F	C	+	2	0	FAM111B	58649681	0.339000	0.24784	0.010000	0.14722	0.002000	0.02628	0.229000	0.17833	0.199000	0.20427	-0.905000	0.02835	TGT	FAM111B	-	superfamily_Trypsin-like_Pept_dom	ENSG00000189057		0.388	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1		0	35	0	G	NM_198947		58893105	1			no_errors	ENST00000343597	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.001	T	T	58893105	G	T	58893105	3	4	58	1	0	0	0	0	1	0	0	0	5419	1377	48	3	1541	3	FAM111B	11	58893105	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	762	58893105	76113411	1308	15691											
MS4A14	84689	genome.wustl.edu	37	chr11	60165441	60165441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcacaggatatccattctgGggagcacttattgtgagtac	10	12	10	9	0	2	1	1	1	1	0	3	3	3	3	1	3	2	2	1	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:60165441G>T	ENST00000300187.6	+	2	532	c.255G>T	c.(253-255)tgG>tgT	p.W85C	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.W85C|MS4A14_ENST00000395005.2_Missense_Mutation_p.W85C	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	85						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATCCATTCTGGGGAGCACTTA	0.393																																																	0													113	114	114					11																	60165441		2203	4300	6503	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.255G>T	11.37:g.60165441G>T	ENSP00000300187:p.Trp85Cys		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.W85C	ENST00000300187.6	37	c.255	CCDS31569.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.28|14.28	2.487095|2.487095	0.44249|0.44249	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000534688|ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	.|T;T;T;T	.|0.54279	.|3.21;0.58;3.21;3.21	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.82008|0.82008	-0.0670|-0.0670	5|10	.|0.87932	.|D	.|0	-5.6893|-5.6893	14.0437|14.0437	0.64693|0.64693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|85;85	.|Q96JA4-2;Q96JA4	.|.;M4A14_HUMAN	V|C	44|85	.|ENSP00000300187:W85C;ENSP00000378453:W85C;ENSP00000435764:W85C;ENSP00000433761:W85C	.|ENSP00000300187:W85C	G|W	+|+	2|3	0|0	MS4A14|MS4A14	59922017|59922017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.440000|0.440000	0.31957|0.31957	4.151000|4.151000	0.58105|0.58105	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GGG|TGG	MS4A14	-	pfam_CD20-like	ENSG00000166928		0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2		0	65	0	G			60165441	1			no_errors	ENST00000300187	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	60165441	G	T	60165441	3	4	58	1	0	0	0	0	1	0	0	0	9896	1241	43	3	261	3	MS4A14	11	60165441	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1272336	60165441	74841075	1309	15692											
TMEM132A	54972	genome.wustl.edu	37	chr11	60704054	60704054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccggcagtcccctggccCgcccaagggggaggggagct	6	3	18	14	2	0	0	0	0	0	0	1	3	1	3	5	7	1	2	5	7	1	0	rs372456749		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:60704054C>T	ENST00000453848.2	+	11	2905	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P917L			Q24JP5	T132A_HUMAN	transmembrane protein 132A	916	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCCCCTGGCCCGCCCAAGGGG	0.721													C|||	1	0.000199681	8e-04	0	5008	,	,		12253	0		0	False		,,,				2504	0																0								C	LEU/PRO,LEU/PRO	0,4384		0,0,2192	11	15	14		2747,2750	-4	0	11		14	1,8573		0,1,4286	no	missense,missense	TMEM132A	NM_178031.2,NM_017870.3	98,98	0,1,6478	TT,TC,CC		0.0117,0.0,0.0077	benign,benign	916/1024,917/1025	60704054	1,12957	2192	4287	6479	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2747C>T	11.37:g.60704054C>T	ENSP00000405823:p.Pro916Leu		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.P917L	ENST00000453848.2	37	c.2750	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.203725	0.01581	0.0	1.17E-4	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.05717	3.4;3.4	4.64	-4.01	0.04045	.	0.587686	0.15469	N	0.260696	T	0.04137	0.0115	N	0.16478	0.41	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.12156	0.007;0.007	T	0.23762	-1.0179	10	0.87932	D	0	-1.8011	12.6251	0.56626	0.0:0.5246:0.0:0.4754	.	916;917	Q24JP5;Q24JP5-2	T132A_HUMAN;.	L	667;916;917	ENSP00000405823:P916L;ENSP00000005286:P917L	ENSP00000005286:P917L	P	+	2	0	TMEM132A	60460630	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.080000	0.11339	-1.372000	0.02137	-1.851000	0.00568	CCG	TMEM132A	-	NULL	ENSG00000006118		0.721	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	-	0	22	0	C	NM_017870		60704054	1	tier1	-	no_errors	ENST00000005286	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	T	T	60704054	C	T	60704054	3	4	58	1	0	0	0	0	1	0	0	0	16092	652	23	1	2792	1	TMEM132A	11	60704054	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	538613	60704054	74302462	1310	15693											
FADS2	9415	genome.wustl.edu	37	chr11	61615632	61615632	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacccctctctccccacaggGtgcctctgccaactggtgga	6	8	9	18	0	2	0	0	0	2	0	4	1	3	1	6	3	3	0	6	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:61615632G>T	ENST00000278840.4	+	5	1250	c.620G>T	c.(619-621)gGt>gTt	p.G207V	FADS2_ENST00000522056.1_Splice_Site_p.G176V|FADS2_ENST00000521849.1_Splice_Site_p.G207V|FADS2_ENST00000257261.6_Splice_Site_p.G185V	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	207					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCCCCACAGGGTGCCTCTGCC	0.567																																																	0													117	92	101					11																	61615632		2202	4299	6501	SO:0001630	splice_region_variant	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"Fatty acid desaturases"	3575	protein-coding gene	gene with protein product	"delta-6-desaturase"	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.619-1G>T	11.37:g.61615632G>T			A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd	p.G207V	ENST00000278840.4	37	c.620	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971719	0.74246	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34	4.37	2.39	0.29439	Fatty acid desaturase, type 1 (1);	0.221905	0.30011	N	0.010634	T	0.41166	0.1147	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.996;0.999	D;D;D;D	0.79108	0.992;0.964;0.981;0.945	T	0.28808	-1.0032	10	0.72032	D	0.01	-7.0967	10.1682	0.42893	0.0:0.1491:0.6962:0.1548	.	176;207;207;185	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	V	185;176;85;207;85;207	ENSP00000257261:G185V;ENSP00000429500:G176V;ENSP00000430054:G85V;ENSP00000278840:G207V;ENSP00000430225:G85V;ENSP00000431091:G207V	ENSP00000257261:G185V	G	+	2	0	FADS2	61372208	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.624000	0.90961	0.408000	0.25621	0.557000	0.71058	GGT	FADS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.567	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	-	0	69	0	G	NM_004265	Missense_Mutation	61615632	1	tier1	-	no_errors	ENST00000278840	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	61615632	G	T	61615632	5	4	58	1	0	0	0	0	0	0	1	0	5385	1275	44	3	638	3	FADS2	11	61615632	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	911578	61615632	73390884	1311	15694											
ZBTB3	79842	genome.wustl.edu	37	chr11	62521141	62521141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctgggaactccatagtaCcccacgaaggaaagggggcc	11	6	13	11	1	1	0	0	0	1	0	2	3	2	2	4	4	2	2	4	4	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:62521141C>T	ENST00000394807.3	-	2	271	c.146G>A	c.(145-147)gGt>gAt	p.G49D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTCCATAGTACCCCACGAAGG	0.562																																																	0													27	30	29					11																	62521141		2196	4294	6490	SO:0001583	missense	0			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.146G>A	11.37:g.62521141C>T	ENSP00000378286:p.Gly49Asp			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G49D	ENST00000394807.3	37	c.146	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760539	0.31137	.	.	ENSG00000185670	ENST00000394807	T	0.12147	2.71	5.85	2.74	0.32292	BTB/POZ fold (1);	0.613511	0.14811	N	0.297061	T	0.07234	0.0183	N	0.14661	0.345	0.24514	N	0.994191	B	0.11235	0.004	B	0.09377	0.004	T	0.31475	-0.9942	10	0.35671	T	0.21	.	5.4173	0.16380	0.0:0.6428:0.1618:0.1953	.	49	Q9H5J0	ZBTB3_HUMAN	D	49	ENSP00000378286:G49D	ENSP00000378286:G49D	G	-	2	0	ZBTB3	62277717	0.185000	0.23213	1.000000	0.80357	0.980000	0.70556	-0.021000	0.12504	0.728000	0.32382	0.561000	0.74099	GGT	ZBTB3	-	superfamily_BTB/POZ_fold	ENSG00000185670		0.562	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1		0	12	0	C	NM_024784		62521141	-1			no_errors	ENST00000394807	ensembl	human	known	74_37	missense	41.67	7	5	SNP	1.000	T	T	62521141	C	T	62521141	3	4	58	1	0	0	0	0	1	0	0	0	17582	507	18	3	1582	3	ZBTB3	11	62521141	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	905509	62521141	72485375	1312	15695											
PLA2G16	11145	genome.wustl.edu	37	chr11	63365556	63365556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggggccagatgaaccacaTatccatcgccaacatagatg	14	6	10	11	1	0	3	0	1	0	2	2	4	1	3	4	2	2	0	4	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:63365556T>C	ENST00000323646.5	-	2	449	c.95A>G	c.(94-96)tAt>tGt	p.Y32C	PLA2G16_ENST00000415826.1_Missense_Mutation_p.Y32C|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	32					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						ATGAACCACATATCCATCGCC	0.547																																																	0													121	98	106					11																	63365556		2201	4298	6499	SO:0001583	missense	0			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"adipose-specific PLA2"	613867	"HRAS-like suppressor 3"	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.95A>G	11.37:g.63365556T>C	ENSP00000320337:p.Tyr32Cys		B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.Y32C	ENST00000323646.5	37	c.95	CCDS8047.1	11	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577466	0.28180	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.22539	1.95;1.95	5.97	4.84	0.62591	.	0.139714	0.49916	D	0.000137	T	0.24967	0.0606	L	0.53617	1.68	0.43338	D	0.995381	P;B	0.34864	0.473;0.061	B;B	0.41271	0.352;0.125	T	0.02512	-1.1148	10	0.37606	T	0.19	-5.3326	10.6591	0.45692	0.0:0.0773:0.0:0.9227	.	63;32	Q3MI98;P53816	.;PAG16_HUMAN	C	32	ENSP00000320337:Y32C;ENSP00000389124:Y32C	ENSP00000320337:Y32C	Y	-	2	0	PLA2G16	63122132	0.998000	0.40836	1.000000	0.80357	0.312000	0.27988	2.727000	0.47311	2.288000	0.76882	0.533000	0.62120	TAT	PLA2G16	-	NULL	ENSG00000176485		0.547	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G16	HGNC	protein_coding	OTTHUMT00000396632.1	-	0	85	0	T	NM_001128203		63365556	-1	tier1	-	no_errors	ENST00000323646	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	C	C	63365556	T	C	63365556	3	2	58	1	0	0	0	0	1	0	0	0	12032	1406	49	4	405	4	PLA2G16	11	63365556	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	844415	63365556	71640960	1313	15696											
ATL3	25923	genome.wustl.edu	37	chr11	63398665	63398665	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacctcaagacctatgaaGccagtgaggcctgaggctat	13	7	10	11	0	1	4	1	3	0	1	1	4	1	4	4	2	2	1	4	2	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:63398665G>T	ENST00000398868.3	-	12	1662	c.1386C>A	c.(1384-1386)ggC>ggA	p.G462G	ATL3_ENST00000538786.1_Silent_p.G444G|ATL3_ENST00000332645.4_Silent_p.G489G	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	462					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GACCTATGAAGCCAGTGAGGC	0.498																																																	0													80	82	81					11																	63398665		1955	4155	6110	SO:0001819	synonymous_variant	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1386C>A	11.37:g.63398665G>T			Q8N7W5|Q9H8Q5|Q9UFL1	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.G489	ENST00000398868.3	37	c.1467	CCDS41663.1	11																																																																																			ATL3	-	NULL	ENSG00000184743		0.498	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1		0	54	0	G	NM_015459		63398665	-1			no_errors	ENST00000332645	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T	T	63398665	G	T	63398665	2	4	58	1	0	0	0	0	0	0	0	1	1109	958	34	3		3	ATL3	11	63398665	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	33109	63398665	71607851	1314	15697											
MARK2	2011	genome.wustl.edu	37	chr11	63665754	63665754	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatcatcccaacataggTgagcacaagttgttatttct	12	14	7	8	0	2	2	1	2	1	0	3	2	3	2	1	1	2	3	1	1	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:63665754T>C	ENST00000509502.2	+	4	701		c.e4+2		MARK2_ENST00000361128.5_Splice_Site|MARK2_ENST00000508192.1_Splice_Site|MARK2_ENST00000408948.3_Splice_Site|MARK2_ENST00000402010.2_Splice_Site|MARK2_ENST00000377810.3_Splice_Site|MARK2_ENST00000350490.7_Splice_Site|MARK2_ENST00000425897.2_Splice_Site|MARK2_ENST00000315032.8_Splice_Site|MARK2_ENST00000413835.2_Splice_Site|MARK2_ENST00000377809.4_Splice_Site|MARK2_ENST00000513765.2_Splice_Site|MARK2_ENST00000502399.3_Splice_Site	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAACATAGGTGAGCACAAGT	0.478																																																	0													185	177	180					11																	63665754		2201	4297	6498	SO:0001630	splice_region_variant	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"ELKL motif kinase 1", "serine/threonine kinase", "protein-serine/threonine kinase", "Ser/Thr protein kinase PAR-1B"	600526	"ELKL motif kinase"	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.238+2T>C	11.37:g.63665754T>C				Splice_Site	SNP	-	e4+2	ENST00000509502.2	37	c.337+2	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017753	0.75161	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1235	0.65205	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARK2	63422330	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.849000	0.86908	2.171000	0.68590	0.460000	0.39030	.	MARK2	-	-	ENSG00000072518		0.478	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	-	0	54	0	T	NM_017490	Intron	63665754	1	tier1	-	no_errors	ENST00000402010	ensembl	human	known	74_37	splice_site	44.44	20	16	SNP	1.000	C	C	63665754	T	C	63665754	5	2	58	1	0	0	0	0	0	0	1	0	9351	1710	59	4	353	4	MARK2	11	63665754	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	267089	63665754	71340762	1315	15698											
PLCB3	5331	genome.wustl.edu	37	chr11	64022235	64022235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaggaggtggacacactgGacatcagttccatcagggac	11	6	12	12	0	2	0	2	0	0	0	3	4	3	4	2	5	0	1	2	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64022235G>A	ENST00000540288.1	+	3	296	c.193G>A	c.(193-195)Gac>Aac	p.D65N	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.D65N	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	65					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGACACACTGGACATCAGTTC	0.622																																																	0													84	80	81					11																	64022235		2201	4297	6498	SO:0001583	missense	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.193G>A	11.37:g.64022235G>A	ENSP00000443631:p.Asp65Asn		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D65N	ENST00000540288.1	37	c.193	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	g	27.0	4.795488	0.90453	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.52754	0.65;0.65	4.39	4.39	0.52855	.	0.113535	0.64402	D	0.000020	T	0.71710	0.3372	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.77830	-0.2442	10	0.56958	D	0.05	.	16.1156	0.81304	0.0:0.0:1.0:0.0	.	65	Q01970	PLCB3_HUMAN	N	65	ENSP00000279230:D65N;ENSP00000443631:D65N	ENSP00000279230:D65N	D	+	1	0	PLCB3	63778811	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.150000	0.77403	2.144000	0.66660	0.556000	0.70494	GAC	PLCB3	-	pirsf_PLC-beta	ENSG00000149782		0.622	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	-	0	40	0	G			64022235	1	tier1	-	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A	A	64022235	G	A	64022235	3	1	58	1	0	0	0	0	1	0	0	0	12068	1174	41	3	203	3	PLCB3	11	64022235	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	356481	64022235	70984281	1316	15699											
PLCB3	5331	genome.wustl.edu	37	chr11	64031214	64031214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaaccgctgtgcctgcCggccctgctcatctacaccg	7	7	8	19	3	2	0	1	0	1	0	2	0	2	0	6	1	6	2	6	1	3	1	rs142407686		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64031214C>T	ENST00000540288.1	+	21	2610	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	PLCB3_ENST00000325234.5_Missense_Mutation_p.P769L|PLCB3_ENST00000279230.6_Missense_Mutation_p.P836L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	836					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGTGCCTGCCGGCCCTGCTC	0.667																																																	0								C	LEU/PRO,LEU/PRO	1,4401	2.1+/-5.4	0,1,2200	109	104	106		2507,2306	5.2	1	11	dbSNP_134	106	0,8594		0,0,4297	no	missense,missense	PLCB3	NM_000932.2,NM_001184883.1	98,98	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	836/1235,769/1168	64031214	1,12995	2201	4297	6498	SO:0001583	missense	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2507C>T	11.37:g.64031214C>T	ENSP00000443631:p.Pro836Leu		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P836L	ENST00000540288.1	37	c.2507	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862356	0.91511	2.27E-4	0.0	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.12465	2.68;2.68;2.68	5.25	5.25	0.73442	C2 calcium/lipid-binding domain, CaLB (1);	0.053288	0.85682	D	0.000000	T	0.41442	0.1159	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.956;0.977	T	0.39375	-0.9617	10	0.87932	D	0	.	17.6185	0.88074	0.0:1.0:0.0:0.0	.	769;836	G5E960;Q01970	.;PLCB3_HUMAN	L	836;836;769	ENSP00000279230:P836L;ENSP00000443631:P836L;ENSP00000324660:P769L	ENSP00000279230:P836L	P	+	2	0	PLCB3	63787790	1.000000	0.71417	0.975000	0.42487	0.638000	0.38207	7.645000	0.83430	2.462000	0.83206	0.561000	0.74099	CCG	PLCB3	-	pirsf_PLC-beta,superfamily_C2_dom	ENSG00000149782		0.667	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	-	0	113	0	C			64031214	1	tier1	rs142407686	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	31.58	52	24	SNP	1.000	T	T	64031214	C	T	64031214	3	4	58	1	0	0	0	0	1	0	0	0	12068	652	23	1	2589	1	PLCB3	11	64031214	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8979	64031214	70975302	1317	15700											
NRXN2	9379	genome.wustl.edu	37	chr11	64453270	64453270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacaggttgacgtagtcggCcgacttgcctgtatgcagca	8	9	14	10	3	0	1	0	1	0	0	1	3	0	2	2	3	3	5	2	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64453270C>T	ENST00000377551.1	-	5	1211	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	NRXN2_ENST00000377559.3_Missense_Mutation_p.A310T|NRXN2_ENST00000409571.1_Missense_Mutation_p.A334T|NRXN2_ENST00000265459.6_Missense_Mutation_p.A334T			Q9P2S2	NRX2A_HUMAN	neurexin 2	334	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ACGTAGTCGGCCGACTTGCCT	0.592																																																	0													288	240	256					11																	64453270		2201	4297	6498	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1000G>A	11.37:g.64453270C>T	ENSP00000366774:p.Ala334Thr		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A334T	ENST00000377551.1	37	c.1000	CCDS8077.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.387877|4.387877	0.82902|0.82902	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300|ENST00000437746	T;T;T;T;T|.	0.79141|.	-1.24;-1.14;-1.24;-1.24;-1.24|.	4.0|4.0	4.0|4.0	0.46444|0.46444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.	0.000000|.	0.42053|.	U|.	0.000780|.	T|T	0.49115|0.49115	0.1538|0.1538	N|N	0.20574|0.20574	0.59|0.59	0.58432|0.58432	D|D	0.999998|0.999998	D;P;D|.	0.89917|.	1.0;0.732;0.995|.	D;B;D|.	0.85130|.	0.997;0.306;0.989|.	T|T	0.44112|0.44112	-0.9349|-0.9349	10|5	0.33141|.	T|.	0.24|.	.|.	13.9838|13.9838	0.64321|0.64321	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	310;334;87|.	Q9P2S2-2;Q9P2S2;E7EV67|.	.;NRX2A_HUMAN;.|.	T|D	334;310;334;310;334;105|123	ENSP00000366774:A334T;ENSP00000366782:A310T;ENSP00000265459:A334T;ENSP00000386416:A334T;ENSP00000388971:A105T|.	ENSP00000265459:A334T|.	A|G	-|-	1|2	0|0	NRXN2|NRXN2	64209846|64209846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	7.814000|7.814000	0.86154|0.86154	1.951000|1.951000	0.56629|0.56629	0.467000|0.467000	0.42956|0.42956	GCC|GGC	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0	97	0	C	NM_015080		64453270	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	39.36	57	37	SNP	1.000	T	T	64453270	C	T	64453270	3	4	58	1	0	0	0	0	1	0	0	0	10705	739	26	3	4479	3	NRXN2	11	64453270	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	422056	64453270	70553246	1318	15701											
PYGM	5837	genome.wustl.edu	37	chr11	64525786	64525786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcccgtagccataggcggCcaggcccagtgttgccatgg	8	7	13	13	2	0	0	0	0	0	0	1	0	1	0	5	4	2	2	5	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64525786C>T	ENST00000164139.3	-	4	858	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	154					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCATAGGCGGCCAGGCCCAGT	0.602																																																	0													97	112	107					11																	64525786		2201	4297	6498	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.460G>A	11.37:g.64525786C>T	ENSP00000164139:p.Ala154Thr		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A154T	ENST00000164139.3	37	c.460	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.444521	0.96187	.	.	ENSG00000068976	ENST00000164139;ENST00000540450	D	0.93366	-3.21	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	D	0.96494	0.8856	M	0.81239	2.535	0.80722	D	1	D	0.60575	0.988	D	0.67103	0.949	D	0.96261	0.9191	9	.	.	.	-11.5812	17.0275	0.86452	0.0:1.0:0.0:0.0	.	154	P11217	PYGM_HUMAN	T	154;135	ENSP00000164139:A154T	.	A	-	1	0	PYGM	64282362	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.800000	0.85949	2.631000	0.89168	0.462000	0.41574	GCC	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000068976		0.602	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	-	0	115	0	C	NM_005609		64525786	-1	tier1	-	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	30.77	72	32	SNP	1.000	T	T	64525786	C	T	64525786	3	4	58	1	0	0	0	0	1	0	0	0	12907	739	26	3	2136	3	PYGM	11	64525786	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	72516	64525786	70480730	1319	15702											
LTBP3	4054	genome.wustl.edu	37	chr11	65315233	65315233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaattgtaggagccgcCggtgttcatgcagatgcccc	7	9	14	11	2	1	1	1	0	0	1	1	2	1	2	4	3	3	4	4	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65315233C>T	ENST00000301873.5	-	13	2174	c.1906G>A	c.(1906-1908)Ggc>Agc	p.G636S	LTBP3_ENST00000536982.1_Missense_Mutation_p.G262S|LTBP3_ENST00000322147.4_Missense_Mutation_p.G636S|LTBP3_ENST00000532932.1_Missense_Mutation_p.G66S|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	636	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TAGGAGCCGCCGGTGTTCATG	0.677																																																	0													13	15	15					11																	65315233		2199	4293	6492	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1906G>A	11.37:g.65315233C>T	ENSP00000301873:p.Gly636Ser		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G636S	ENST00000301873.5	37	c.1906	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.63|11.63	1.695071|1.695071	0.30052|0.30052	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.91792|.	-2.91;-2.91;-2.91;-2.91;-2.91|.	4.39|4.39	3.46|3.46	0.39613|0.39613	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.266276|.	0.36034|.	N|.	0.002821|.	T|T	0.29684|0.29684	0.0741|0.0741	N|N	0.16833|0.16833	0.445|0.445	0.19775|0.19775	N|N	0.999954|0.999954	D;D;D;D;D;D|.	0.89917|.	1.0;0.996;0.997;1.0;0.999;0.974|.	D;P;P;D;P;P|.	0.97110|.	1.0;0.766;0.664;0.999;0.865;0.695|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.11182|.	T|.	0.66|.	.|.	11.2881|11.2881	0.49234|0.49234	0.1841:0.8159:0.0:0.0|0.1841:0.8159:0.0:0.0	.|.	547;262;519;636;636;66|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	S|Q	636;636;66;262;547|286	ENSP00000326647:G636S;ENSP00000301873:G636S;ENSP00000435530:G66S;ENSP00000441912:G262S;ENSP00000435276:G547S|.	ENSP00000301873:G636S|.	G|R	-|-	1|2	0|0	LTBP3|LTBP3	65071809|65071809	0.002000|0.002000	0.14202|0.14202	0.680000|0.680000	0.29994|0.29994	0.405000|0.405000	0.30901|0.30901	1.565000|1.565000	0.36386|0.36386	1.040000|1.040000	0.40099|0.40099	0.313000|0.313000	0.20887|0.20887	GGC|CGG	LTBP3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000168056		0.677	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0	62	0	C	NM_021070		65315233	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.319	T	T	65315233	C	T	65315233	3	4	58	1	0	0	0	0	1	0	0	0	9110	652	23	1	2069	1	LTBP3	11	65315233	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	789447	65315233	69691283	1320	15703											
PCNXL3	399909	genome.wustl.edu	37	chr11	65403715	65403715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcagactgtagtgggggcGgtggcctgacctccctcagc	6	9	14	12	1	2	2	2	1	0	1	3	2	3	2	3	4	1	1	3	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65403715G>A	ENST00000355703.3	+	33	6069	c.5530G>A	c.(5530-5532)Ggt>Agt	p.G1844S	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1844	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TAGTGGGGGCGGTGGCCTGAC	0.637																																																	0													38	45	43					11																	65403715		2069	4159	6228	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5530G>A	11.37:g.65403715G>A	ENSP00000347931:p.Gly1844Ser		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.G1844S	ENST00000355703.3	37	c.5530	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346914	0.41599	.	.	ENSG00000197136	ENST00000355703	T	0.07567	3.18	4.53	-0.0933	0.13650	.	0.491974	0.18827	N	0.130099	T	0.04952	0.0133	L	0.35854	1.095	0.18873	N	0.999988	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.41502	-0.9505	10	0.16420	T	0.52	.	3.2019	0.06652	0.3373:0.0:0.4779:0.1848	.	731;1844	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	S	1844	ENSP00000347931:G1844S	ENSP00000347931:G1844S	G	+	1	0	PCNXL3	65160291	0.596000	0.26866	0.041000	0.18516	0.885000	0.51271	1.066000	0.30604	0.105000	0.17753	0.455000	0.32223	GGT	PCNXL3	-	NULL	ENSG00000197136		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	45	0	G	NM_032223		65403715	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	40.91	25	18	SNP	0.338	A	A	65403715	G	A	65403715	3	1	58	1	0	0	0	0	1	0	0	0	11632	1116	39	1	5660	1	PCNXL3	11	65403715	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	88482	65403715	69602801	1321	15704											
SNX32	254122	genome.wustl.edu	37	chr11	65618607	65618607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatgcctgcctgcgggccGaccgcgtcatgcgcgcccac	5	5	14	17	6	1	1	1	0	0	1	1	3	1	1	5	1	4	0	5	1	0	0	rs562049246		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65618607G>A	ENST00000308342.6	+	7	1110	c.685G>A	c.(685-687)Gac>Aac	p.D229N		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	229					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGCGGGCCGACCGCGTCAT	0.622											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		18293	0.001		0	False		,,,				2504	0																0													118	116	117					11																	65618607		2201	4297	6498	SO:0001583	missense	0			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"Sorting nexins"	26423	protein-coding gene	gene with protein product			"sorting nexin 6B"	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.685G>A	11.37:g.65618607G>A	ENSP00000310620:p.Asp229Asn	1085	Q8IW53|Q96NG4	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.D229N	ENST00000308342.6	37	c.685	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956224	0.73902	.	.	ENSG00000172803	ENST00000308342	T	0.29397	1.57	5.13	5.13	0.70059	Vps5 C-terminal (1);	0.228780	0.30742	N	0.008966	T	0.54481	0.1861	M	0.83223	2.63	0.47037	D	0.999292	D	0.76494	0.999	P	0.57960	0.83	T	0.61549	-0.7040	10	0.87932	D	0	-40.2577	16.1197	0.81342	0.0:0.0:1.0:0.0	.	229	Q86XE0	SNX32_HUMAN	N	229	ENSP00000310620:D229N	ENSP00000310620:D229N	D	+	1	0	SNX32	65375183	1.000000	0.71417	0.069000	0.20011	0.801000	0.45260	4.994000	0.63901	2.672000	0.90937	0.655000	0.94253	GAC	SNX32	-	pfam_Vps5_C,pirsf_Snx5_Snx6	ENSG00000172803		0.622	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	-	0	42	0	G	NM_152760		65618607	1	tier1	-	no_errors	ENST00000308342	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.993	A	A	65618607	G	A	65618607	3	1	58	1	0	0	0	0	1	0	0	0	14947	1058	37	1	711	1	SNX32	11	65618607	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	214892	65618607	69387909	1322	15705											
EFEMP2	30008	genome.wustl.edu	37	chr11	65634513	65634513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggggcccgtcaccggcCgggcgaggaccagcatggcg	5	2	18	16	6	1	0	1	0	0	0	1	2	1	1	5	6	1	1	5	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65634513C>T	ENST00000307998.6	-	11	1438	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q	EFEMP2_ENST00000532648.1_5'UTR|EFEMP2_ENST00000528176.1_Intron|MUS81_ENST00000525006.1_Intron	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	403					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CGTCACCGGCCGGGCGAGGAC	0.627																																																	0													63	63	63					11																	65634513		2201	4296	6497	SO:0001583	missense	0			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"Fibulins"	3219	protein-coding gene	gene with protein product	"fibulin 4"	604633	"EGF-containing fibulin-like extracellular matrix protein 2"			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1208G>A	11.37:g.65634513C>T	ENSP00000309953:p.Arg403Gln		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.R403Q	ENST00000307998.6	37	c.1208	CCDS8116.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938109	0.73557	.	.	ENSG00000172638	ENST00000526911;ENST00000307998;ENST00000530806	D;D;T	0.86627	-2.15;-1.59;-1.34	5.38	4.47	0.54385	.	0.000000	0.43747	D	0.000523	T	0.81837	0.4907	L	0.48642	1.525	0.47476	D	0.999433	P	0.35348	0.496	B	0.31686	0.134	T	0.81562	-0.0876	10	0.52906	T	0.07	.	12.156	0.54077	0.0:0.9163:0.0:0.0837	.	403	O95967	FBLN4_HUMAN	Q	62;403;56	ENSP00000436536:R62Q;ENSP00000309953:R403Q;ENSP00000436526:R56Q	ENSP00000309953:R403Q	R	-	2	0	EFEMP2	65391089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.715000	0.54897	1.421000	0.47157	0.561000	0.74099	CGG	EFEMP2	-	NULL	ENSG00000172638		0.627	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4		0	46	0	C	NM_016938		65634513	-1			no_errors	ENST00000307998	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	65634513	C	T	65634513	3	4	58	1	0	0	0	0	1	0	0	0	4956	652	23	1	127	1	EFEMP2	11	65634513	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	15906	65634513	69372003	1323	15706											
CATSPER1	117144	genome.wustl.edu	37	chr11	65793344	65793344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtgggaagcctcaccGtggtggggcacgccagagga	8	5	17	11	2	1	1	1	0	0	1	1	3	1	3	4	6	1	1	4	6	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65793344G>A	ENST00000312106.5	-	1	644	c.507C>T	c.(505-507)caC>caT	p.H169H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	169	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCCTCACCGTGGTGGGGCA	0.582																																																	0													56	53	54					11																	65793344		2201	4296	6497	SO:0001819	synonymous_variant	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.507C>T	11.37:g.65793344G>A			Q96P76	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.H169	ENST00000312106.5	37	c.507	CCDS8127.1	11																																																																																			CATSPER1	-	NULL	ENSG00000175294		0.582	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0	59	0	G	NM_053054		65793344	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	silent	36.36	28	16	SNP	0.000	A	A	65793344	G	A	65793344	2	1	58	1	0	0	0	0	0	0	0	1	2694	1136	40	1		1	CATSPER1	11	65793344	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	158831	65793344	69213172	1324	15707											
GAL3ST3	89792	genome.wustl.edu	37	chr11	65810450	65810450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggggatggcggccaggCgcgagctggcggcgcgcgcg	3	2	22	14	10	0	0	0	0	0	0	0	2	0	1	2	7	1	1	2	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65810450C>T	ENST00000312006.4	-	3	1105	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R275H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	275					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGGCCAGGCGCGAGCTGGC	0.721																																																	0													6	7	6					11																	65810450		2121	4104	6225	SO:0001583	missense	0			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"Sulfotransferases, membrane-bound"	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.824G>A	11.37:g.65810450C>T	ENSP00000308591:p.Arg275His		Q14D05	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.R275H	ENST00000312006.4	37	c.824	CCDS8128.1	11	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963605	0.53507	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.26373	1.74;1.74	4.4	4.4	0.53042	.	0.077023	0.51477	D	0.000081	T	0.33760	0.0874	L	0.55990	1.75	0.41391	D	0.987618	D	0.67145	0.996	P	0.53722	0.733	T	0.10847	-1.0612	10	0.66056	D	0.02	-28.4214	8.6595	0.34084	0.0:0.8942:0.0:0.1058	.	275	Q96A11	G3ST3_HUMAN	H	275	ENSP00000308591:R275H;ENSP00000434829:R275H	ENSP00000308591:R275H	R	-	2	0	GAL3ST3	65567026	0.999000	0.42202	1.000000	0.80357	0.251000	0.25915	2.195000	0.42677	2.152000	0.67230	0.555000	0.69702	CGC	GAL3ST3	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000175229		0.721	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST3	HGNC	protein_coding	OTTHUMT00000391052.1	-	0	11	0	C	NM_033036		65810450	-1	tier1	-	no_errors	ENST00000312006	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	T	T	65810450	C	T	65810450	3	4	58	1	0	0	0	0	1	0	0	0	6224	768	27	1	475	1	GAL3ST3	11	65810450	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	17106	65810450	69196066	1325	15708											
SF3B2	10992	genome.wustl.edu	37	chr11	65836146	65836146	+	Splice_Site	DEL	A	A	-																															tctctttctccctatacagcAaaaaaaacggaaagctcagc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65836146delA	ENST00000322535.6	+	22	2667	c.2618delA	c.(2617-2619)caa>ca	p.Q873fs	PACS1_ENST00000320580.4_5'Flank|SF3B2_ENST00000528302.1_Splice_Site_p.Q856fs|RP11-1167A19.2_ENST00000529036.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	873					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTATACAGCAAAAAAAACGG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77	82	80					11																	65836146		2201	4295	6496	SO:0001630	splice_region_variant	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2617-1A>-	11.37:g.65836146delA		1087	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Frame_Shift_Del	DEL	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.K875fs	ENST00000322535.6	37	c.2618	CCDS31612.1	11																																																																																			SF3B2	-	NULL	ENSG00000087365		0.512	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2		0	44	0	A		Frame_Shift_Del	65836146	1	tier1		no_errors	ENST00000322535	ensembl	human	known	74_37	frame_shift_del	32.61	31	15	DEL	1.000	-	-	65836146	A	-	65836146	8	5	58	1	0	1	0	1	0	0	1	0	14196	144	5	0	2704	0	SF3B2	11	65836146	Splice_Site	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	25696	65836146	69170370	1326	15709											
SPTBN2	6712	genome.wustl.edu	37	chr11	66458942	66458942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggccagcacctgacccCgtgtgtccagcagctcaagc	7	5	11	18	3	1	1	1	1	0	0	2	1	2	1	6	1	4	3	6	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66458942C>T	ENST00000533211.1	-	27	5709	c.5378G>A	c.(5377-5379)cGg>cAg	p.R1793Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1793Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1793Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1793					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACCTGACCCCGTGTGTCCAG	0.692																																																	0													47	38	41					11																	66458942		2200	4295	6495	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5378G>A	11.37:g.66458942C>T	ENSP00000432568:p.Arg1793Gln		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1793Q	ENST00000533211.1	37	c.5378	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.571428	0.96553	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.76060	-0.99;-0.99;-0.99	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93560	0.6894	10	0.62326	D	0.03	.	16.7391	0.85454	0.0:1.0:0.0:0.0	.	1793	O15020	SPTN2_HUMAN	Q	1793	ENSP00000432568:R1793Q;ENSP00000311489:R1793Q;ENSP00000433593:R1793Q	ENSP00000311489:R1793Q	R	-	2	0	SPTBN2	66215518	0.995000	0.38212	0.989000	0.46669	0.916000	0.54674	7.604000	0.82830	2.480000	0.83734	0.655000	0.94253	CGG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0	44	0	C	NM_006946		66458942	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	T	T	66458942	C	T	66458942	3	4	58	1	0	0	0	0	1	0	0	0	15167	652	23	1	1842	1	SPTBN2	11	66458942	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	622796	66458942	68547574	1327	15710											
SPTBN2	6712	genome.wustl.edu	37	chr11	66466466	66466466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagggagcctcacctcGtgacaatcttgcaggaaatg	10	7	11	13	1	2	1	1	1	1	0	3	3	2	3	4	2	2	1	4	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66466466G>A	ENST00000533211.1	-	19	4195	c.3864C>T	c.(3862-3864)caC>caT	p.H1288H	SPTBN2_ENST00000309996.2_Silent_p.H1288H|SPTBN2_ENST00000529997.1_Silent_p.H1288H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1288					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.H1288H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCACCTCGTGACAATCTT	0.572																																																	1	Substitution - coding silent(1)	large_intestine(1)											69	68	68					11																	66466466		2200	4295	6495	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3864C>T	11.37:g.66466466G>A			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H1288	ENST00000533211.1	37	c.3864	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0	33	0	G	NM_006946		66466466	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.222	A	A	66466466	G	A	66466466	2	1	58	1	0	0	0	0	0	0	0	1	15167	1136	40	1		1	SPTBN2	11	66466466	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7524	66466466	68540050	1328	15711											
SPTBN2	6712	genome.wustl.edu	37	chr11	66481107	66481107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagctctggccccaccttcgGgatccagcagcttggtaagt	7	10	11	13	1	1	0	0	0	1	0	3	1	2	1	4	3	3	4	4	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66481107G>T	ENST00000533211.1	-	8	1098	c.767C>A	c.(766-768)cCc>cAc	p.P256H	SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256H|RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	256	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCACCTTCGGGATCCAGCAG	0.512																																																	0													147	144	145					11																	66481107		2200	4295	6495	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.767C>A	11.37:g.66481107G>T	ENSP00000432568:p.Pro256His		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.P256H	ENST00000533211.1	37	c.767	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757839	0.69648	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.65549	-0.16;-0.16;-0.16	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91899	0.5530	10	0.87932	D	0	.	16.9451	0.86228	0.0:0.0:1.0:0.0	.	256	O15020	SPTN2_HUMAN	H	256	ENSP00000432568:P256H;ENSP00000311489:P256H;ENSP00000433593:P256H	ENSP00000311489:P256H	P	-	2	0	SPTBN2	66237683	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	9.595000	0.98260	2.521000	0.84997	0.557000	0.71058	CCC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000173898		0.512	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0	105	0	G	NM_006946		66481107	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	5.60	118	7	SNP	1.000	T	T	66481107	G	T	66481107	3	4	58	1	0	0	0	0	1	0	0	0	15167	1232	43	3	6529	3	SPTBN2	11	66481107	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	14641	66481107	68525409	1329	15712											
ADRBK1	156	genome.wustl.edu	37	chr11	67051342	67051342	+	Frame_Shift_Del	DEL	C	C	-																															cagtaccctcccccgctgatCcccccacgaggggaggtgaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:67051342delC	ENST00000308595.5	+	17	1703	c.1413delC	c.(1411-1413)atcfs	p.I471fs	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	471	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCCCGCTGATCCCCCCACGAG	0.632																																																	0													30	32	31					11																	67051342		2197	4294	6491	SO:0001589	frameshift_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1413delC	11.37:g.67051342delC	ENSP00000312262:p.Ile471fs		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P473fs	ENST00000308595.5	37	c.1413	CCDS8156.1	11																																																																																			ADRBK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase	ENSG00000173020		0.632	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1		0	25	0	C	NM_001619		67051342	1	tier1		no_errors	ENST00000308595	ensembl	human	known	74_37	frame_shift_del	31.82	15	7	DEL	1.000	-	-	67051342	C	-	67051342	7	5	58	1	0	1	0	1	0	0	0	0	343	845	30	0	1479	0	ADRBK1	11	67051342	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	570235	67051342	67955174	1330	15713											
CARNS1	57571	genome.wustl.edu	37	chr11	67185908	67185908	+	5'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttcccgaggctgtcCtggggcggaggtgaccttgt	3	13	14	11	2	1	1	0	1	1	0	4	3	3	2	3	5	0	1	3	5	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:67185908C>A	ENST00000307823.3	+	0	364				CARNS1_ENST00000423745.2_5'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.P94H|CARNS1_ENST00000445895.2_Missense_Mutation_p.P94H	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1						ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CGAGGCTGTCCTGGGGCGGAG	0.657																																																	0													86	83	84					11																	67185908		692	1591	2283	SO:0001623	5_prime_UTR_variant	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.-89C>A	11.37:g.67185908C>A			A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.P94H	ENST00000307823.3	37	c.281	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639265	0.67244	.	.	ENSG00000172508	ENST00000531040;ENST00000542831;ENST00000539452;ENST00000445895	T;T	0.46063	0.88;0.91	4.1	4.1	0.47936	.	.	.	.	.	T	0.48786	0.1519	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.53592	-0.8417	9	0.66056	D	0.02	.	13.8593	0.63550	0.0:1.0:0.0:0.0	.	94;110	F5H427;A5YM72-3	.;.	H	94;94;110;94	ENSP00000431670:P94H;ENSP00000389009:P94H	ENSP00000389009:P94H	P	+	2	0	CARNS1	66942484	0.667000	0.27484	1.000000	0.80357	0.969000	0.65631	1.940000	0.40223	2.130000	0.65690	0.561000	0.74099	CCT	CARNS1	-	superfamily_TIL_dom	ENSG00000172508		0.657	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	-	0	109	0	C	NM_020811		67185908	1	tier1	-	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	38.68	65	41	SNP	1.000	A	A	67185908	C	A	67185908	1	1	58	0	1	0	0	0	0	0	0	0	2663	681	24	3		3	CARNS1	11	67185908	5'UTR	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	134566	67185908	67820608	1331	15714											
MRGPRF	116535	genome.wustl.edu	37	chr11	68772931	68772931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcttggcgctgctgtTgatgcagatgcacaggtcag	7	10	16	8	1	1	2	1	1	0	1	1	3	1	2	0	3	3	6	0	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:68772931T>C	ENST00000309099.6	-	3	1229	c.847A>G	c.(847-849)Aac>Gac	p.N283D	MRGPRF_ENST00000441623.1_Missense_Mutation_p.N283D|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	283						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCGCTGCTGTTGATGCAGATG	0.632																																																	0													36	27	30					11																	68772931		2196	4288	6484	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.847A>G	11.37:g.68772931T>C	ENSP00000309782:p.Asn283Asp		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.N283D	ENST00000309099.6	37	c.847	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547417	0.86022	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.51071	0.72;0.72	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000158	T	0.71787	0.3381	M	0.89163	3.01	0.40998	D	0.984904	D	0.89917	1.0	D	0.91635	0.999	T	0.78270	-0.2269	10	0.87932	D	0	-34.537	11.5619	0.50782	0.0:0.0:0.0:1.0	.	283	Q96AM1	MRGRF_HUMAN	D	283;283;255	ENSP00000403660:N283D;ENSP00000309782:N283D	ENSP00000309782:N283D	N	-	1	0	MRGPRF	68529507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.261000	0.43276	1.984000	0.57885	0.459000	0.35465	AAC	MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172935		0.632	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0	15	0	T	NM_145015		68772931	-1	tier1	-	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	50.00	6	6	SNP	1.000	C	C	68772931	T	C	68772931	3	2	58	1	0	0	0	0	1	0	0	0	9803	1812	63	4	188	4	MRGPRF	11	68772931	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1587023	68772931	66233585	1332	15715											
FGF3	2248	genome.wustl.edu	37	chr11	69631126	69631126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttgttcatggccaggtAccgcccggagaagagacccc	8	7	11	15	2	2	2	1	0	1	2	2	4	2	2	6	3	1	2	6	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:69631126A>G	ENST00000334134.2	-	2	376	c.286T>C	c.(286-288)Tac>Cac	p.Y96H		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	96					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			ATGGCCAGGTACCGCCCGGAG	0.597																																																	0													168	139	149					11																	69631126		2200	4294	6494	SO:0001583	missense	0				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"INT-2 proto-oncogene protein", "oncogene INT2", "V-INT2 murine mammary tumor virus integration site oncogene homolog", "murine mammary tumor virus integration site 2, mouse"	164950	"fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.286T>C	11.37:g.69631126A>G	ENSP00000334122:p.Tyr96His		Q0VG69	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Y96H	ENST00000334134.2	37	c.286	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662047	0.88251	.	.	ENSG00000186895	ENST00000334134	D	0.90385	-2.66	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95739	0.8781	9	.	.	.	.	14.4164	0.67153	1.0:0.0:0.0:0.0	.	96	P11487	FGF3_HUMAN	H	96	ENSP00000334122:Y96H	.	Y	-	1	0	FGF3	69340063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.764000	0.91719	1.810000	0.52873	0.454000	0.30748	TAC	FGF3	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000186895		0.597	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	-	0	77	0	A	NM_005247		69631126	-1	tier1	-	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	44.26	34	27	SNP	1.000	G	G	69631126	A	G	69631126	3	3	58	1	0	0	0	0	1	0	0	0	5875	391	14	4	441	4	FGF3	11	69631126	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	858195	69631126	65375390	1333	15716											
NUMA1	4926	genome.wustl.edu	37	chr11	71730662	71730662	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggtagaaggcacaggAgctgggggtaagaaatagac	16	4	16	5	0	0	3	0	0	0	3	0	5	0	4	0	5	2	4	0	5	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:71730662A>G	ENST00000393695.3	-	9	793	c.462T>C	c.(460-462)gcT>gcC	p.A154A	NUMA1_ENST00000351960.6_Splice_Site_p.A154A|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Splice_Site_p.A154A	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AAGGCACAGGAGCTGGGGGTA	0.463			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													81	79	80					11																	71730662		2200	4293	6493	SO:0001630	splice_region_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.461-1T>C	11.37:g.71730662A>G				Silent	SNP	superfamily_Prefoldin	p.A154	ENST00000393695.3	37	c.462	CCDS31633.1	11																																																																																			NUMA1	-	NULL	ENSG00000137497		0.463	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	-	0	55	0	A		Silent	71730662	-1	tier1	-	no_errors	ENST00000393695	ensembl	human	known	74_37	silent	36.96	29	17	SNP	1.000	G	G	71730662	A	G	71730662	5	3	58	1	0	0	0	0	0	0	1	0	10789	318	11	4	5961	4	NUMA1	11	71730662	Splice_Site	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2099536	71730662	63275854	1334	15717											
UCP3	7352	genome.wustl.edu	37	chr11	73712474	73712474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaaaacggtgattcccGtaacatctggactttcatca	11	13	7	10	2	4	1	3	1	1	0	5	2	5	2	1	2	2	2	1	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:73712474G>A	ENST00000314032.4	-	7	1474	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Missense_Mutation_p.R206W	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	308					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GGTGATTCCCGTAACATCTGG	0.483																																																	0													147	109	122					11																	73712474		2200	4293	6493	SO:0001583	missense	0			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"Solute carriers"	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.922C>T	11.37:g.73712474G>A	ENSP00000323740:p.Arg308Trp		O60475|Q96HL3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.R308W	ENST00000314032.4	37	c.922	CCDS8229.1	11	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580692	0.28180	.	.	ENSG00000175564	ENST00000314032;ENST00000348534	T;T	0.80393	-1.37;-1.22	5.45	0.88	0.19161	.	0.283980	0.20227	N	0.096570	T	0.55305	0.1912	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39820	-0.9595	10	0.36615	T	0.2	-20.7762	2.6957	0.05134	0.3419:0.0:0.3158:0.3423	.	308	P55916	UCP3_HUMAN	W	308;206	ENSP00000323740:R308W;ENSP00000343615:R206W	ENSP00000323740:R308W	R	-	1	2	UCP3	73390122	0.708000	0.27876	0.370000	0.25965	0.810000	0.45777	0.713000	0.25794	0.357000	0.24183	-0.137000	0.14449	CGG	UCP3	-	prints_Mit_uncoupling	ENSG00000175564		0.483	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	HGNC	protein_coding	OTTHUMT00000398200.1	-	0	112	0	G	NM_003356		73712474	-1	tier1	-	no_errors	ENST00000314032	ensembl	human	known	74_37	missense	39.00	61	39	SNP	0.245	A	A	73712474	G	A	73712474	3	1	58	1	0	0	0	0	1	0	0	0	16981	1144	40	1	20	1	UCP3	11	73712474	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1981812	73712474	61294042	1335	15718											
C2CD3	26005	genome.wustl.edu	37	chr11	73804962	73804963	+	Frame_Shift_Del	DEL	GA	GA	-																															ggaacctcagctggcaacagGagagagtgatggtgttcact																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:73804962_73804963delGA	ENST00000334126.7	-	18	3468_3469	c.3242_3243delTC	c.(3241-3243)ctcfs	p.L1083fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.L1083fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1083					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTGGCAACAGGAGAGAGTGATG	0.485																																																	0																																										SO:0001589	frameshift_variant	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3242_3243delTC	11.37:g.73804966_73804967delGA	ENSP00000334379:p.Leu1083fs		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.L1081fs	ENST00000334126.7	37	c.3243_3242		11																																																																																			C2CD3	-	smart_C2_dom	ENSG00000168014		0.485	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding			0	59	0	GA	NM_015531		73804963	-1	tier1		no_errors	ENST00000334126	ensembl	human	known	74_37	frame_shift_del	31.37	35	16	DEL	0.812:1.000	-	-	73804963	GA	-	73804962	7	5	58	1	0	1	0	1	0	0	0	0	2161	1161	41	0	2704	0	C2CD3	11	73804962	Frame_Shift_Del	DEL	GA	TCGA-L5-A4OI-01A-11D-A27G-09	92488	73804962	61201554	1336	15719											
MYO7A	4647	genome.wustl.edu	37	chr11	76901075	76901075	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctgcagtacctgcggaActtcatccacgggggcccgc	6	7	13	15	3	1	0	1	0	0	0	2	1	2	1	3	4	4	3	3	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:76901075A>T	ENST00000409709.3	+	29	3913	c.3641A>T	c.(3640-3642)aAc>aTc	p.N1214I	MYO7A_ENST00000409619.2_Missense_Mutation_p.N1203I|MYO7A_ENST00000458637.2_Missense_Mutation_p.N1214I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1214	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACCTGCGGAACTTCATCCAC	0.682																																																	0													15	18	17					11																	76901075		1878	4043	5921	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3641A>T	11.37:g.76901075A>T	ENSP00000386331:p.Asn1214Ile		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.N1214I	ENST00000409709.3	37	c.3641	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801425	0.50315	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.4	4.25	0.50352	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.76170	2.325	0.54753	D	0.999989	B;P;B	0.48230	0.452;0.907;0.452	B;P;B	0.54270	0.315;0.747;0.315	D	0.93113	0.6518	10	0.52906	T	0.07	.	12.4466	0.55654	0.8597:0.1403:0.0:0.0	.	1203;1214;1214	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	1214;1214;1203;425;1213;1183;1090;395	ENSP00000386331:N1214I;ENSP00000392185:N1214I;ENSP00000386635:N1203I;ENSP00000417017:N395I	ENSP00000345075:N1090I	N	+	2	0	MYO7A	76578723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.856000	0.39389	0.872000	0.35775	0.523000	0.50628	AAC	MYO7A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000137474		0.682	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	90	0	A	NM_000260		76901075	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	T	T	76901075	A	T	76901075	3	4	58	1	0	0	0	0	1	0	0	0	10120	43	2	5	3785	5	MYO7A	11	76901075	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	3096113	76901075	58105441	1337	15720											
ODZ4	26011	genome.wustl.edu	37	chr11	78369190	78369190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactgctcgacagagatcacGaaaaagccgtcgtagccttg	12	8	10	11	4	1	1	1	0	0	1	3	4	1	1	2	0	4	2	2	0	4	3	rs267603207		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:78369190G>A	ENST00000278550.7	-	34	8685	c.8223C>T	c.(8221-8223)ttC>ttT	p.F2741F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2741					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAGAGATCACGAAAAAGCCGT	0.602																																																	0													161	173	169					11																	78369190		2116	4212	6328	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8223C>T	11.37:g.78369190G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F2741	ENST00000278550.7	37	c.8223	CCDS44688.1	11																																																																																			TENM4	-	NULL	ENSG00000149256		0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	28	0	G			78369190	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	silent	55.56	12	15	SNP	0.997	A	A	78369190	G	A	78369190	2	1	58	1	0	0	0	0	0	0	0	1	10876	1049	37	1		1	ODZ4	11	78369190	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1468115	78369190	56637326	1338	15721											
ODZ4	26011	genome.wustl.edu	37	chr11	78443446	78443446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagacgactgggttggggCgggcaaaattgctcaggtca	10	7	17	7	2	2	1	2	0	0	1	2	4	2	1	0	5	1	3	0	5	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:78443446C>T	ENST00000278550.7	-	21	3515	c.3053G>A	c.(3052-3054)cGc>cAc	p.R1018H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1018					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGGGTTGGGGCGGGCAAAATT	0.547																																																	0													73	82	79					11																	78443446		1972	4154	6126	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3053G>A	11.37:g.78443446C>T	ENSP00000278550:p.Arg1018His		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1018H	ENST00000278550.7	37	c.3053	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.114196	0.94339	.	.	ENSG00000149256	ENST00000278550	D	0.90197	-2.63	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94873	0.8032	9	.	.	.	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	1018	Q6N022	TEN4_HUMAN	H	1018	ENSP00000278550:R1018H	.	R	-	2	0	ODZ4	78121094	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.561000	0.82288	2.495000	0.84180	0.561000	0.74099	CGC	TENM4	-	NULL	ENSG00000149256		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	67	0	C			78443446	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	T	T	78443446	C	T	78443446	3	4	58	1	0	0	0	0	1	0	0	0	10876	768	27	1	5312	1	ODZ4	11	78443446	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	74256	78443446	56563070	1339	15722											
ODZ4	26011	genome.wustl.edu	37	chr11	78600941	78600941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaggttaaaggccggccGggcgaaggtgctgcggggca	7	6	19	9	4	0	1	0	1	0	0	0	2	0	1	2	7	2	3	2	7	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:78600941G>A	ENST00000278550.7	-	9	1435	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	325	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAGGCCGGCCGGGCGAAGGTG	0.632																																																	0													97	94	95					11																	78600941		692	1591	2283	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.973C>T	11.37:g.78600941G>A	ENSP00000278550:p.Arg325Trp		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R325W	ENST00000278550.7	37	c.973	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232592	0.79688	.	.	ENSG00000149256	ENST00000278550	T	0.46819	0.86	4.81	0.17	0.15021	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.62720	0.2451	M	0.64997	1.995	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.63681	-0.6582	9	.	.	.	.	15.414	0.74948	0.0:0.0:0.5027:0.4973	.	325	Q6N022	TEN4_HUMAN	W	325	ENSP00000278550:R325W	.	R	-	1	2	ODZ4	78278589	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	2.460000	0.45031	0.186000	0.20125	0.655000	0.94253	CGG	TENM4	-	pfam_Ten_N	ENSG00000149256		0.632	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	45	0	G			78600941	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A	A	78600941	G	A	78600941	3	1	58	1	0	0	0	0	1	0	0	0	10876	1115	39	1	7440	1	ODZ4	11	78600941	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	157495	78600941	56405575	1340	15723											
DLG2	1740	genome.wustl.edu	37	chr11	83182726	83182726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcaagtcgtcattgatccGatccttcatgggccccagga	9	11	9	12	2	3	1	3	1	0	0	6	3	5	2	4	2	0	0	4	2	2	3	rs34857356	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:83182726G>A	ENST00000532653.1	-	19	2322	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	DLG2_ENST00000426717.2_Missense_Mutation_p.R156W|DLG2_ENST00000376104.2_Missense_Mutation_p.R797W|DLG2_ENST00000330014.6_Missense_Mutation_p.R613W|DLG2_ENST00000524982.1_Missense_Mutation_p.R688W|DLG2_ENST00000543673.1_Missense_Mutation_p.R797W|DLG2_ENST00000531015.1_Missense_Mutation_p.R659W|DLG2_ENST00000398309.2_Missense_Mutation_p.R692W|DLG2_ENST00000280241.8_Missense_Mutation_p.R731W|DLG2_ENST00000404783.3_Missense_Mutation_p.R170W|DLG2_ENST00000418306.2_Missense_Mutation_p.R571W|DLG2_ENST00000537455.1_Missense_Mutation_p.R442W|DLG2_ENST00000376106.3_Missense_Mutation_p.R156W			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	389					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATTGATCCGATCCTTCATG	0.433																																																	0													67	65	65					11																	83182726		1848	4093	5941	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2020C>T	11.37:g.83182726G>A	ENSP00000435849:p.Arg674Trp		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R797W	ENST00000532653.1	37	c.2389		11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056276	0.76074	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000457267;ENST00000420775	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;0.88	5.08	4.16	0.48862	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000018	T	0.70193	0.3196	M	0.89658	3.05	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.993;0.999;0.998;0.998;0.999;0.994	T	0.77598	-0.2528	9	.	.	.	.	15.211	0.73225	0.0:0.0:0.8581:0.1419	.	659;674;688;613;170;797;692;571	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	W	692;156;797;571;797;731;170;613;442;156;688;674;797;659;44;174	ENSP00000381355:R692W;ENSP00000393049:R156W;ENSP00000365272:R797W;ENSP00000402275:R571W;ENSP00000441994:R797W;ENSP00000280241:R731W;ENSP00000385113:R170W;ENSP00000381353:R613W;ENSP00000443248:R442W;ENSP00000365274:R156W;ENSP00000432894:R688W;ENSP00000435849:R674W;ENSP00000433848:R659W;ENSP00000409133:R44W;ENSP00000391017:R174W	.	R	-	1	2	DLG2	82860374	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.082000	0.30803	1.243000	0.43853	0.591000	0.81541	CGG	DLG2	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like	ENSG00000150672		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	34	0	G	NM_001364		83182726	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A	A	83182726	G	A	83182726	3	1	58	1	0	0	0	0	1	0	0	0	4569	1057	37	1	558	1	DLG2	11	83182726	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4581785	83182726	51823790	1341	15724											
DLG2	1740	genome.wustl.edu	37	chr11	83770365	83770365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atattttgattacctttaggGcctttgaacagtttgatttc	9	19	7	6	0	0	3	0	3	0	0	1	3	0	3	2	1	2	1	2	1	4	9			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:83770365G>T	ENST00000532653.1	-	6	899	c.597C>A	c.(595-597)ggC>ggA	p.G199G	DLG2_ENST00000376104.2_Silent_p.G304G|DLG2_ENST00000330014.6_Silent_p.G138G|DLG2_ENST00000524982.1_Silent_p.G199G|DLG2_ENST00000543673.1_Silent_p.G304G|DLG2_ENST00000531015.1_Silent_p.G166G|DLG2_ENST00000398309.2_Silent_p.G199G|DLG2_ENST00000280241.8_Silent_p.G238G|DLG2_ENST00000418306.2_Silent_p.G148G|DLG2_ENST00000398301.2_Silent_p.G238G|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376106.3_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACCTTTAGGGCCTTTGAACA	0.438																																																	0													127	119	121					11																	83770365		1888	4117	6005	SO:0001819	synonymous_variant	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.597C>A	11.37:g.83770365G>T			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.G304	ENST00000532653.1	37	c.912		11																																																																																			DLG2	-	pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000150672		0.438	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	35	0	G	NM_001364		83770365	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.696	T	T	83770365	G	T	83770365	2	4	58	1	0	0	0	0	0	0	0	1	4569	1190	42	3		3	DLG2	11	83770365	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	587639	83770365	51236151	1342	15725											
FAT3	120114	genome.wustl.edu	37	chr11	92085985	92085985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaattttggctgtggaccGgggaatgaaactgtatggga	11	10	16	4	1	0	1	0	1	0	0	0	5	0	5	1	6	1	2	1	6	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92085985G>T	ENST00000298047.6	+	1	724	c.707G>T	c.(706-708)cGg>cTg	p.R236L	FAT3_ENST00000525166.1_Missense_Mutation_p.R86L|FAT3_ENST00000541502.1_Missense_Mutation_p.R236L|FAT3_ENST00000409404.2_Missense_Mutation_p.R236L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGTGGACCGGGGAATGAAA	0.423										TCGA Ovarian(4;0.039)																																							0													158	150	152					11																	92085985		1893	4127	6020	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.707G>T	11.37:g.92085985G>T	ENSP00000298047:p.Arg236Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R236L	ENST00000298047.6	37	c.707		11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368166	0.82463	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.14	5.14	0.70334	.	.	.	.	.	T	0.66426	0.2788	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67511	-0.5652	9	0.56958	D	0.05	.	17.9557	0.89068	0.0:0.0:1.0:0.0	.	236	Q8TDW7-3	.	L	236;236;236;86	ENSP00000298047:R236L;ENSP00000387040:R236L;ENSP00000443786:R236L;ENSP00000432586:R86L	ENSP00000298047:R236L	R	+	2	0	FAT3	91725633	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	9.782000	0.99034	2.531000	0.85337	0.650000	0.86243	CGG	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.423	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	66	0	G	NM_001008781		92085985	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	92085985	G	T	92085985	3	4	58	1	0	0	0	0	1	0	0	0	5713	1116	39	2	709	2	FAT3	11	92085985	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8315620	92085985	42920531	1343	15726											
FAT3	120114	genome.wustl.edu	37	chr11	92534013	92534013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagagccagtgtcagggcaGatgttggaaggggccacttg	10	8	16	7	0	1	2	1	0	0	2	1	3	1	3	2	4	1	2	2	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92534013G>T	ENST00000298047.6	+	9	7851	c.7834G>T	c.(7834-7836)Gat>Tat	p.D2612Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D2462Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D2612Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2612	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCAGGGCAGATGTTGGAAG	0.468										TCGA Ovarian(4;0.039)																																							0													56	55	55					11																	92534013		1972	4173	6145	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7834G>T	11.37:g.92534013G>T	ENSP00000298047:p.Asp2612Tyr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D2612Y	ENST00000298047.6	37	c.7834		11	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435924	0.62955	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	.	.	.	.	.	T	0.71204	0.3312	M	0.76838	2.35	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.71510	-0.4571	9	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2612	Q8TDW7-3	.	Y	2612;2612;2462	ENSP00000298047:D2612Y;ENSP00000387040:D2612Y;ENSP00000432586:D2462Y	ENSP00000298047:D2612Y	D	+	1	0	FAT3	92173661	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	5.729000	0.68538	2.941000	0.99782	0.655000	0.94253	GAT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.468	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	56	0	G	NM_001008781		92534013	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	50.00	26	26	SNP	0.998	T	T	92534013	G	T	92534013	3	4	58	1	0	0	0	0	1	0	0	0	5713	942	33	3	7868	3	FAT3	11	92534013	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	448028	92534013	42472503	1344	15727											
FAT3	120114	genome.wustl.edu	37	chr11	92534496	92534496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgacaaacgccttgacCgtgaaaccagcccagctttc	11	8	8	14	2	0	3	0	3	0	0	1	3	0	3	4	0	5	2	4	0	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92534496C>T	ENST00000298047.6	+	9	8334	c.8317C>T	c.(8317-8319)Cgt>Tgt	p.R2773C	FAT3_ENST00000525166.1_Missense_Mutation_p.R2623C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2773C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2773	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGCCTTGACCGTGAAACCAG	0.443										TCGA Ovarian(4;0.039)																																							0													74	72	72					11																	92534496		1912	4135	6047	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8317C>T	11.37:g.92534496C>T	ENSP00000298047:p.Arg2773Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R2773C	ENST00000298047.6	37	c.8317		11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980459	0.53827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.66099	-0.19;-0.19;-0.19	5.98	5.98	0.97165	.	.	.	.	.	T	0.76905	0.4053	M	0.88775	2.98	0.80722	D	1	D	0.65815	0.995	P	0.48795	0.59	T	0.81707	-0.0810	9	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	2773	Q8TDW7-3	.	C	2773;2773;2623	ENSP00000298047:R2773C;ENSP00000387040:R2773C;ENSP00000432586:R2623C	ENSP00000298047:R2773C	R	+	1	0	FAT3	92174144	0.983000	0.35010	0.968000	0.41197	0.736000	0.42039	3.156000	0.50708	2.837000	0.97791	0.591000	0.81541	CGT	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.443	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	52	0	C	NM_001008781		92534496	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	T	T	92534496	C	T	92534496	3	4	58	1	0	0	0	0	1	0	0	0	5713	652	23	1	8351	1	FAT3	11	92534496	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	483	92534496	42472020	1345	15728											
FAT3	120114	genome.wustl.edu	37	chr11	92577336	92577336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttaaagtgaacagtcaCgatgggaaaatcatcgccct	14	11	8	8	2	2	1	2	1	0	0	3	3	2	2	1	1	1	0	1	1	6	3	rs571074322		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92577336C>T	ENST00000298047.6	+	18	10820	c.10803C>T	c.(10801-10803)caC>caT	p.H3601H	FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Silent_p.H3451H|FAT3_ENST00000409404.2_Silent_p.H3601H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3601	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAACAGTCACGATGGGAAAA	0.488										TCGA Ovarian(4;0.039)																																							0													183	189	187					11																	92577336		2065	4216	6281	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10803C>T	11.37:g.92577336C>T			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H3601	ENST00000298047.6	37	c.10803		11																																																																																			FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.488	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	94	0	C	NM_001008781		92577336	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	46.67	31	28	SNP	0.067	T	T	92577336	C	T	92577336	2	4	58	1	0	0	0	0	0	0	0	1	5713	535	19	1		1	FAT3	11	92577336	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	42840	92577336	42429180	1346	15729											
FAT3	120114	genome.wustl.edu	37	chr11	92600024	92600024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcttcctggagctcaacCgcaatttcacgagcctgtcc	7	10	9	15	3	3	0	2	0	1	0	5	2	5	1	4	2	3	2	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92600024C>T	ENST00000298047.6	+	21	11793	c.11776C>T	c.(11776-11778)Cgc>Tgc	p.R3926C	FAT3_ENST00000533797.1_Missense_Mutation_p.R261C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3776C|FAT3_ENST00000409404.2_Missense_Mutation_p.R3926C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3926	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGCTCAACCGCAATTTCAC	0.632										TCGA Ovarian(4;0.039)																																							0													35	40	38					11																	92600024		1982	4150	6132	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11776C>T	11.37:g.92600024C>T	ENSP00000298047:p.Arg3926Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3926C	ENST00000298047.6	37	c.11776		11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224217	0.79576	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.84	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82351	0.5018	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.991	P;P	0.55824	0.785;0.773	D	0.84272	0.0489	9	0.66056	D	0.02	.	15.4106	0.74914	0.0:0.7372:0.2628:0.0	.	3926;3926	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	C	3926;3926;3776;261	ENSP00000298047:R3926C;ENSP00000387040:R3926C;ENSP00000432586:R3776C;ENSP00000436399:R261C	ENSP00000298047:R3926C	R	+	1	0	FAT3	92239672	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	3.538000	0.53597	1.467000	0.48044	0.561000	0.74099	CGC	FAT3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000165323		0.632	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	75	0	C	NM_001008781		92600024	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	43.48	39	30	SNP	0.994	T	T	92600024	C	T	92600024	3	4	58	1	0	0	0	0	1	0	0	0	5713	652	23	1	11858	1	FAT3	11	92600024	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	22688	92600024	42406492	1347	15730											
MTNR1B	4544	genome.wustl.edu	37	chr11	92715303	92715303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcaacagctgcctgaatgCcattgtctatgggctcttga	8	14	9	10	0	3	2	1	2	2	0	3	2	3	2	2	1	4	2	2	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92715303C>T	ENST00000257068.2	+	2	920	c.914C>T	c.(913-915)gCc>gTc	p.A305V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	305					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGCCTGAATGCCATTGTCTAT	0.512																																																	0													197	208	204					11																	92715303		2201	4298	6499	SO:0001583	missense	0			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"GPCR / Class A : Melatonin receptors"	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.914C>T	11.37:g.92715303C>T	ENSP00000257068:p.Ala305Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.A305V	ENST00000257068.2	37	c.914	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241075	0.79912	.	.	ENSG00000134640	ENST00000257068	T	0.71817	-0.6	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.064020	0.64402	D	0.000007	D	0.85682	0.5753	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89060	0.3462	10	0.87932	D	0	-19.7473	16.674	0.85274	0.0:1.0:0.0:0.0	.	305	P49286	MTR1B_HUMAN	V	305	ENSP00000257068:A305V	ENSP00000257068:A305V	A	+	2	0	MTNR1B	92354951	1.000000	0.71417	0.086000	0.20670	0.775000	0.43874	7.021000	0.76425	2.226000	0.72624	0.491000	0.48974	GCC	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000134640		0.512	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	-	0	53	0	C			92715303	1	tier1	-	no_errors	ENST00000257068	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	T	T	92715303	C	T	92715303	3	4	58	1	0	0	0	0	1	0	0	0	9990	739	26	3	920	3	MTNR1B	11	92715303	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	115279	92715303	42291213	1348	15731											
HEPHL1	341208	genome.wustl.edu	37	chr11	93844770	93844770	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccacggtgccatctaaCggtaatgataccctctcccc	9	8	7	17	2	2	1	0	1	2	0	3	1	2	1	6	2	4	1	6	2	3	3	rs560509955		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:93844770C>T	ENST00000315765.9	+	19	3284	c.3276C>T	c.(3274-3276)aaC>aaT	p.N1092N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1092	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCATCTAACGGTAATGATA	0.448													C|||	1	0.000199681	0	0	5008	,	,		22226	0		0	False		,,,				2504	0.001																0													49	47	48					11																	93844770		1961	4152	6113	SO:0001630	splice_region_variant	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3277+1C>T	11.37:g.93844770C>T			Q3C1W7	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.N1092	ENST00000315765.9	37	c.3276	CCDS44710.1	11																																																																																			HEPHL1	-	NULL	ENSG00000181333		0.448	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	-	0	19	0	C	XM_291947	Silent	93844770	1	tier1	-	no_errors	ENST00000315765	ensembl	human	known	74_37	silent	56.52	10	13	SNP	0.004	T	T	93844770	C	T	93844770	5	4	58	1	0	0	0	0	0	0	1	0	7082	550	19	1	3350	1	HEPHL1	11	93844770	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1129467	93844770	41161746	1349	15732											
GPR83	10888	genome.wustl.edu	37	chr11	94134356	94134356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcggcccggccctcgtGgggctcggtggctcgcacca	2	7	15	17	6	0	0	0	0	0	0	5	0	0	0	3	6	0	3	3	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:94134356G>T	ENST00000243673.2	-	1	229	c.58C>A	c.(58-60)Cac>Aac	p.H20N	GPR83_ENST00000539203.2_Missense_Mutation_p.H20N	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	20					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGGCCCTCGTGGGGCTCGGTG	0.682																																																	0													26	29	28					11																	94134356		2199	4293	6492	SO:0001583	missense	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.58C>A	11.37:g.94134356G>T	ENSP00000243673:p.His20Asn		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.H20N	ENST00000243673.2	37	c.58	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	6.724	0.502252	0.12822	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.60040	0.22;0.32	4.04	3.12	0.35913	.	0.203496	0.35207	N	0.003371	T	0.32194	0.0821	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.14448	-1.0472	10	0.32370	T	0.25	.	7.3766	0.26831	0.2881:0.0:0.7119:0.0	.	20	Q9NYM4	GPR83_HUMAN	N	20	ENSP00000243673:H20N;ENSP00000441550:H20N	ENSP00000243673:H20N	H	-	1	0	GPR83	93774004	0.269000	0.24143	0.052000	0.19188	0.039000	0.13416	2.206000	0.42779	0.700000	0.31782	0.462000	0.41574	CAC	GPR83	-	NULL	ENSG00000123901		0.682	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	-	0	18	0	G	NM_016540		94134356	-1	tier1	-	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.003	T	T	94134356	G	T	94134356	3	4	58	1	0	0	0	0	1	0	0	0	6739	1348	47	3	1229	3	GPR83	11	94134356	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	289586	94134356	40872160	1350	15733											
AMOTL1	154810	genome.wustl.edu	37	chr11	94602625	94602625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcggccaaagggacCgcagagaaactgggtatgtg	12	4	14	11	2	0	1	0	0	0	1	0	3	0	2	3	3	2	2	3	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:94602625C>T	ENST00000433060.2	+	12	2892	c.2751C>T	c.(2749-2751)acC>acT	p.T917T	AMOTL1_ENST00000317837.9_Silent_p.T504T|AMOTL1_ENST00000317829.8_Silent_p.T867T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	917					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAAAGGGACCGCAGAGAAAC	0.597																																																	0													17	21	19					11																	94602625		1963	4135	6098	SO:0001819	synonymous_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2751C>T	11.37:g.94602625C>T			Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.T917	ENST00000433060.2	37	c.2751	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.597	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	-	0	30	0	C	NM_130847		94602625	1	tier1	-	no_errors	ENST00000433060	ensembl	human	known	74_37	silent	65.38	9	17	SNP	0.000	T	T	94602625	C	T	94602625	2	4	58	1	0	0	0	0	0	0	0	1	583	639	23	1		1	AMOTL1	11	94602625	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	468269	94602625	40403891	1351	15734											
KDM4DL	390245	genome.wustl.edu	37	chr11	94758856	94758856	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcacatcaagctggcctTgccaaggtaattccacccaa	11	7	9	14	1	1	0	1	0	0	0	2	0	2	0	4	3	2	3	4	3	4	3	rs2020207	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:94758856T>C	ENST00000450979.2	+	1	435	c.135T>C	c.(133-135)ctT>ctC	p.L45L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	45	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AAGCTGGCCTTGCCAAGGTAA	0.473													.|||	50	0.00998403	0.0113	0.0058	5008	,	,		20373	0.0198		0.005	False		,,,				2504	0.0061																0													90	69	76					11																	94758856		692	1591	2283	SO:0001819	synonymous_variant	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"Chromatin-modifying enzymes / K-demethylases"	37098	protein-coding gene	gene with protein product			"lysine (K)-specific demethylase 4D-like"	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.135T>C	11.37:g.94758856T>C				Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.L45	ENST00000450979.2	37	c.135	CCDS44713.1	11																																																																																			KDM4E	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN	ENSG00000235268		0.473	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	-	0	32	0	T	NM_001161630		94758856	1	tier1	rs2020207	no_errors	ENST00000450979	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.040	C	C	94758856	T	C	94758856	2	2	58	1	0	0	0	0	0	0	0	1	8159	1799	63	4		4	KDM4DL	11	94758856	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	156231	94758856	40247660	1352	15735											
MTMR2	8898	genome.wustl.edu	37	chr11	95568534	95568535	+	Frame_Shift_Del	DEL	TC	TC	-																															tgaggttgatcggttagaaaTctctctctgtagttcctcta																								rs369804894		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:95568534_95568535delTC	ENST00000346299.5	-	15	2191_2192	c.1851_1852delGA	c.(1849-1854)gagattfs	p.EI617fs	MTMR2_ENST00000409459.1_Frame_Shift_Del_p.EI545fs|MTMR2_ENST00000393223.3_Frame_Shift_Del_p.EI545fs|MTMR2_ENST00000352297.7_Frame_Shift_Del_p.EI545fs	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	617					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGTTAGAAATCTCTCTCTGTA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1851_1852delGA	11.37:g.95568540_95568541delTC	ENSP00000345752:p.Glu617fs		A6NN98|Q9UPS9	Frame_Shift_Del	DEL	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.E617fs	ENST00000346299.5	37	c.1852_1851	CCDS8305.1	11																																																																																			MTMR2	-	NULL	ENSG00000087053		0.436	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1		0	37	0	TC	NM_016156		95568535	-1	tier1		no_errors	ENST00000346299	ensembl	human	known	74_37	frame_shift_del	20.69	46	12	DEL	1.000:0.986	-	-	95568535	TC	-	95568534	7	5	58	1	0	1	0	1	0	0	0	0	9982	1435	50	0	83	0	MTMR2	11	95568534	Frame_Shift_Del	DEL	TC	TCGA-L5-A4OI-01A-11D-A27G-09	809678	95568534	39437982	1353	15736											
CNTN5	53942	genome.wustl.edu	37	chr11	99827718	99827718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagtccttagtcctccaaCgccactcactctgcgtaatg	9	11	7	14	2	2	1	1	0	1	1	5	1	5	1	4	0	2	1	4	0	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:99827718C>T	ENST00000524871.1	+	8	1144	c.854C>T	c.(853-855)aCg>aTg	p.T285M	CNTN5_ENST00000418526.2_Missense_Mutation_p.T211M|CNTN5_ENST00000528682.1_Missense_Mutation_p.T285M|CNTN5_ENST00000279463.3_Missense_Mutation_p.T285M|CNTN5_ENST00000527185.1_Missense_Mutation_p.T285M	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	285					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCCTCCAACGCCACTCACT	0.393																																																	0													40	40	40					11																	99827718		1943	4148	6091	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.854C>T	11.37:g.99827718C>T	ENSP00000435637:p.Thr285Met		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T285M	ENST00000524871.1	37	c.854	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886161	0.51908	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57907	0.37;0.42;0.42;0.43;0.42	5.47	5.47	0.80525	Immunoglobulin subtype (1);	0.050201	0.85682	D	0.000000	T	0.71600	0.3359	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.73353	-0.4009	10	0.87932	D	0	.	18.6577	0.91460	0.0:1.0:0.0:0.0	.	285;211;285	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	M	285;285;285;211;285	ENSP00000433575:T285M;ENSP00000436185:T285M;ENSP00000435637:T285M;ENSP00000393229:T211M;ENSP00000279463:T285M	ENSP00000279463:T285M	T	+	2	0	CNTN5	99332928	1.000000	0.71417	0.979000	0.43373	0.100000	0.18952	7.417000	0.80156	2.711000	0.92665	0.585000	0.79938	ACG	CNTN5	-	smart_Ig_sub	ENSG00000149972		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	22	0	C	NM_014361		99827718	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	50.00	12	12	SNP	1.000	T	T	99827718	C	T	99827718	3	4	58	1	0	0	0	0	1	0	0	0	3651	536	19	1	876	1	CNTN5	11	99827718	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4259184	99827718	35178798	1354	15737											
PGR	5241	genome.wustl.edu	37	chr11	100962608	100962608	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acataagtagttgtgctgccCtaaaaaaacaaaatgagtca	18	9	7	7	0	1	1	1	1	0	0	1	1	1	1	1	0	3	3	1	0	8	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:100962608C>A	ENST00000325455.5	-	3	3243		c.e3-1		PGR_ENST00000263463.5_Splice_Site|PGR_ENST00000534013.1_Splice_Site	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor						cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGTGCTGCCCTAAAAAAACA	0.383																																					Pancreas(124;2271 2354 21954 22882)												0													59	55	56					11																	100962608		2203	4299	6502	SO:0001630	splice_region_variant	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1790-1G>T	11.37:g.100962608C>A			A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Splice_Site	SNP	-	e3-1	ENST00000325455.5	37	c.1790-1	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746022	0.89663	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGR	100467818	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.617000	0.83032	2.756000	0.94617	0.655000	0.94253	.	PGR	-	-	ENSG00000082175		0.383	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0	51	0	C		Intron	100962608	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	splice_site	38.24	21	13	SNP	1.000	A	A	100962608	C	A	100962608	5	1	58	1	0	0	0	0	0	0	1	0	11844	695	24	3	1036	3	PGR	11	100962608	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1134890	100962608	34043908	1355	15738											
KIAA1377	57562	genome.wustl.edu	37	chr11	101793464	101793465	+	Frame_Shift_Ins	INS	-	-	T																															cgaaatcgagcacgtaaataINSttttgtggagtcaaatcgga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:101793464_101793465insT	ENST00000263468.8	+	2	491_492	c.221_222insT	c.(220-225)tattttfs	p.YF74fs		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	74										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCACGTAAATATTTTGTGGAGT	0.307																																																	0																																										SO:0001589	frameshift_variant	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.225dupT	11.37:g.101793468_101793468dupT	ENSP00000263468:p.Tyr74fs		Q4G0U6	Frame_Shift_Ins	INS	NULL	p.V76fs	ENST00000263468.8	37	c.221_222	CCDS31658.1	11																																																																																			KIAA1377	-	NULL	ENSG00000110318		0.307	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1		0	24	0	-	NM_020802		101793465	1	tier1		no_errors	ENST00000263468	ensembl	human	known	74_37	frame_shift_ins	26.47	25	9	INS	1.000:1.000	T	T	101793465	-	T	101793464	7	5	58	1	0	1	1	0	0	0	0	0	8254	449	16	0	227	0	KIAA1377	11	101793464	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	830856	101793464	33213052	1356	15739											
DCUN1D5	84259	genome.wustl.edu	37	chr11	102935036	102935036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcatagttactaagatcaGcatggactgttctgctgaat	12	13	8	8	0	3	2	2	1	1	1	3	3	3	3	0	1	3	4	0	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:102935036G>A	ENST00000260247.5	-	7	968	c.626C>T	c.(625-627)gCt>gTt	p.A209V	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.A124V	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	209	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		ACTAAGATCAGCATGGACTGT	0.284																																																	0													133	127	129					11																	102935036		2202	4293	6495	SO:0001583	missense	0				CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.626C>T	11.37:g.102935036G>A	ENSP00000260247:p.Ala209Val		Q3ZTT2	Missense_Mutation	SNP	pfam_PONY_dom	p.A209V	ENST00000260247.5	37	c.626	CCDS8325.1	11	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674985	0.47781	.	.	ENSG00000137692	ENST00000260247;ENST00000531543	.	.	.	5.91	5.91	0.95273	Domain of unknown function DUF298 (2);	0.053597	0.85682	D	0.000000	T	0.54615	0.1869	L	0.27053	0.805	0.58432	D	0.999998	B	0.15141	0.012	B	0.23018	0.043	T	0.44019	-0.9355	9	0.35671	T	0.21	-11.0668	20.3052	0.98627	0.0:0.0:1.0:0.0	.	209	Q9BTE7	DCNL5_HUMAN	V	209;124	.	ENSP00000260247:A209V	A	-	2	0	DCUN1D5	102440246	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.640000	0.67875	2.814000	0.96858	0.650000	0.86243	GCT	DCUN1D5	-	pfam_PONY_dom	ENSG00000137692		0.284	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D5	HGNC	protein_coding	OTTHUMT00000386382.2	-	0	23	0	G	NM_032299		102935036	-1	tier1	-	no_errors	ENST00000260247	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	A	A	102935036	G	A	102935036	3	1	58	1	0	0	0	0	1	0	0	0	4326	971	34	3	95	3	DCUN1D5	11	102935036	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1141572	102935036	32071480	1357	15740											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103006263	103006263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgcatggaaacaacacTggaatcatcaactgtacaaa	17	8	7	9	0	2	0	2	0	0	0	2	2	2	2	0	2	6	3	0	2	6	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:103006263T>C	ENST00000375735.2	+	16	2389	c.2245T>C	c.(2245-2247)Tgg>Cgg	p.W749R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W749R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	749	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAACAACACTGGAATCATCA	0.338																																																	0													77	72	74					11																	103006263		1839	4100	5939	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2245T>C	11.37:g.103006263T>C	ENSP00000364887:p.Trp749Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.W749R	ENST00000375735.2	37	c.2245	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028173	0.75390	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.32515	1.45;1.45	5.62	5.62	0.85841	.	0.000000	0.64402	U	0.000002	T	0.62036	0.2395	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.66630	-0.5875	10	0.40728	T	0.16	.	15.8286	0.78733	0.0:0.0:0.0:1.0	.	749;749	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	749	ENSP00000364887:W749R;ENSP00000381167:W749R	ENSP00000364887:W749R	W	+	1	0	DYNC2H1	102511473	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.982000	0.70532	2.141000	0.66446	0.460000	0.39030	TGG	DYNC2H1	-	NULL	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	47	0	T	XM_370652		103006263	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	C	C	103006263	T	C	103006263	3	2	58	1	0	0	0	0	1	0	0	0	4860	1580	55	4	2307	4	DYNC2H1	11	103006263	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	71227	103006263	32000253	1358	15741											
CASP5	838	genome.wustl.edu	37	chr11	104868169	104868169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctggaagcatgtgatgaGttccgtaatgaagatggagc	11	12	13	5	1	1	4	0	3	1	1	2	6	2	6	1	2	2	3	1	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:104868169G>T	ENST00000260315.3	-	8	1146	c.1147C>A	c.(1147-1149)Ctc>Atc	p.L383I	CASP5_ENST00000393141.2_Missense_Mutation_p.L396I|CASP5_ENST00000526056.1_Missense_Mutation_p.L396I|CASP5_ENST00000444749.2_Missense_Mutation_p.L325I|CASP5_ENST00000531367.1_Missense_Mutation_p.L241I|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.L241I			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	383					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATGTGATGAGTTCCGTAATG	0.428																																																	0													114	105	108					11																	104868169		2202	4299	6501	SO:0001583	missense	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"Caspases"	1506	protein-coding gene	gene with protein product		602665	"caspase 5, apoptosis-related cysteine protease"			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.1147C>A	11.37:g.104868169G>T	ENSP00000260315:p.Leu383Ile		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.L396I	ENST00000260315.3	37	c.1186	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371341	0.42003	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7	3.6	2.58	0.30949	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.365237	0.24388	N	0.038941	T	0.31765	0.0807	M	0.83774	2.66	0.30622	N	0.758344	P;P;P;P	0.50617	0.718;0.937;0.814;0.937	P;P;P;P	0.60415	0.67;0.836;0.843;0.874	T	0.14531	-1.0469	10	0.59425	D	0.04	.	8.295	0.31980	0.0:0.245:0.755:0.0	.	241;325;383;396	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	I	396;241;383;325;396;241	ENSP00000376849:L396I;ENSP00000398130:L241I;ENSP00000260315:L383I;ENSP00000388365:L325I;ENSP00000436877:L396I;ENSP00000434471:L241I	ENSP00000260315:L383I	L	-	1	0	CASP5	104373379	0.970000	0.33590	0.263000	0.24496	0.028000	0.11728	2.488000	0.45276	2.005000	0.58758	0.514000	0.50259	CTC	CASP5	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10	ENSG00000137757		0.428	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	-	0	70	0	G	NM_004347		104868169	-1	tier1	-	no_errors	ENST00000393141	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.416	T	T	104868169	G	T	104868169	3	4	58	1	0	0	0	0	1	0	0	0	2681	1029	36	3	165	3	CASP5	11	104868169	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1861906	104868169	30138347	1359	15742											
CWF19L2	143884	genome.wustl.edu	37	chr11	107200652	107200652	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtaagcctacctttccaaAgtaatgagggaatttgtgct	11	14	9	7	0	0	1	0	1	0	0	1	2	1	2	3	1	3	3	3	1	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:107200652A>T	ENST00000282251.5	-	17	2560	c.2533T>A	c.(2533-2535)Ttt>Att	p.F845I		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	845							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACCTTTCCAAAGTAATGAGGG	0.378																																																	0													63	59	60					11																	107200652		2201	4295	6496	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2533T>A	11.37:g.107200652A>T	ENSP00000282251:p.Phe845Ile		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.F845I	ENST00000282251.5	37	c.2533	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547438	0.86022	.	.	ENSG00000152404	ENST00000282251	T	0.64085	-0.08	5.75	5.75	0.90469	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88874	0.3335	10	0.72032	D	0.01	-19.194	15.2519	0.73552	1.0:0.0:0.0:0.0	.	845	Q2TBE0	C19L2_HUMAN	I	845	ENSP00000282251:F845I	ENSP00000282251:F845I	F	-	1	0	CWF19L2	106705862	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.336000	0.96533	2.194000	0.70268	0.533000	0.62120	TTT	CWF19L2	-	pfam_Cwf19-like_C_dom-2	ENSG00000152404		0.378	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0	68	0	A	NM_152434		107200652	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	48.00	39	36	SNP	1.000	T	T	107200652	A	T	107200652	3	4	58	1	0	0	0	0	1	0	0	0	4081	72	3	5	159	5	CWF19L2	11	107200652	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2332483	107200652	27805864	1360	15743											
CWF19L2	143884	genome.wustl.edu	37	chr11	107299560	107299560	+	Frame_Shift_Del	DEL	T	T	-																															tttgtatcccgtagatgttcTttttttggagggtcatctct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:107299560delT	ENST00000282251.5	-	8	1425	c.1398delA	c.(1396-1398)aaafs	p.K466fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K466fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	466							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTAGATGTTCTTTTTTTGGAG	0.363																																																	0													184	188	187					11																	107299560		2201	4298	6499	SO:0001589	frameshift_variant	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1398delA	11.37:g.107299560delT	ENSP00000282251:p.Lys466fs		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Frame_Shift_Del	DEL	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.E467fs	ENST00000282251.5	37	c.1398	CCDS8336.2	11																																																																																			CWF19L2	-	NULL	ENSG00000152404		0.363	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2		0	115	0	T	NM_152434		107299560	-1	tier1		no_errors	ENST00000282251	ensembl	human	known	74_37	frame_shift_del	40.00	60	40	DEL	0.186	-	-	107299560	T	-	107299560	7	5	58	1	0	1	0	1	0	0	0	0	4081	1606	56	0	1330	0	CWF19L2	11	107299560	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	98908	107299560	27706956	1361	15744											
CRYAB	1410	genome.wustl.edu	37	chr11	111779648	111779648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctacatcagctgggatcCggtatttcctgtggaactcc	7	12	11	11	1	2	0	1	0	1	0	5	2	5	2	3	4	3	2	3	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:111779648C>T	ENST00000533475.1	-	4	817	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	CRYAB_ENST00000227251.3_Missense_Mutation_p.R123Q|CRYAB_ENST00000531198.1_Missense_Mutation_p.R123Q|CRYAB_ENST00000526180.1_Missense_Mutation_p.R123Q|CRYAB_ENST00000525823.1_Missense_Mutation_p.R56Q|CRYAB_ENST00000527950.1_Missense_Mutation_p.R123Q|CRYAB_ENST00000533280.1_Missense_Mutation_p.R56Q	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	123					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.R123Q(2)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AGCTGGGATCCGGTATTTCCT	0.483																																																	2	Substitution - Missense(2)	skin(2)											110	96	101					11																	111779648		2201	4297	6498	SO:0001583	missense	0				CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"Heat shock proteins / HSPB"	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.368G>A	11.37:g.111779648C>T	ENSP00000433560:p.Arg123Gln		B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	pfam_Alpha-crystallin_N,pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.R123Q	ENST00000533475.1	37	c.368	CCDS8351.1	11	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674087	0.88445	.	.	ENSG00000109846	ENST00000526180;ENST00000533280;ENST00000525823;ENST00000533475;ENST00000527950;ENST00000227251;ENST00000531198;ENST00000528961;ENST00000527899;ENST00000526167;ENST00000529647	D;D;D;D;D;D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.73	5.73	0.89815	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.127842	0.64402	D	0.000009	D	0.91646	0.7360	L	0.44542	1.39	0.80722	D	1	D	0.60160	0.987	P	0.58520	0.84	D	0.88034	0.2777	10	0.18710	T	0.47	-0.9614	10.3296	0.43814	0.0:0.8551:0.0:0.1449	.	123	P02511	CRYAB_HUMAN	Q	123;56;56;123;123;123;123;56;123;56;123	ENSP00000436051:R123Q;ENSP00000435046:R56Q;ENSP00000435411:R56Q;ENSP00000433560:R123Q;ENSP00000437149:R123Q;ENSP00000227251:R123Q;ENSP00000434247:R123Q;ENSP00000435960:R56Q;ENSP00000436089:R123Q;ENSP00000434793:R56Q;ENSP00000431754:R123Q	ENSP00000227251:R123Q	R	-	2	0	CRYAB	111284858	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.591000	0.53986	2.721000	0.93114	0.655000	0.94253	CGG	CRYAB	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	ENSG00000109846		0.483	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRYAB	HGNC	protein_coding	OTTHUMT00000391658.1	-	0	56	0	C			111779648	-1	tier1	-	no_errors	ENST00000227251	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	T	T	111779648	C	T	111779648	3	4	58	1	0	0	0	0	1	0	0	0	3913	652	23	1	163	1	CRYAB	11	111779648	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4480088	111779648	23226868	1362	15745											
SDHD	6392	genome.wustl.edu	37	chr11	111959653	111959653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcagtgttttgctcctgGgtctgcttccggctgcttat	2	18	11	10	1	2	0	1	0	1	0	4	0	4	0	2	2	3	5	2	2	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:111959653G>T	ENST00000375549.3	+	3	367	c.232G>T	c.(232-234)Ggt>Tgt	p.G78C	SDHD_ENST00000528021.1_Missense_Mutation_p.G78C|TIMM8B_ENST00000507614.1_5'Flank|SDHD_ENST00000532699.1_Missense_Mutation_p.G78C|TIMM8B_ENST00000504148.2_5'Flank|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000525291.1_Missense_Mutation_p.G39C|SDHD_ENST00000526592.1_Missense_Mutation_p.G78C|SDHD_ENST00000528182.1_Missense_Mutation_p.G78C|TIMM8B_ENST00000541231.1_5'Flank	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	78					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	TTTGCTCCTGGGTCTGCTTCC	0.498			"Mis, N, F, S"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	11	11q23	6392	"succinate dehydrogenase complex, subunit D, integral membrane protein"		O	0													79	77	78					11																	111959653		2201	4294	6495	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"Mitochondrial respiratory chain complex / Complex II"	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.232G>T	11.37:g.111959653G>T	ENSP00000364699:p.Gly78Cys		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	pfam_CybS	p.G78C	ENST00000375549.3	37	c.232	CCDS31678.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259716	0.80246	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528021;ENST00000526592;ENST00000525291	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	5.04	5.04	0.67666	.	0.115461	0.56097	D	0.000021	D	0.99217	0.9728	M	0.86420	2.815	0.48901	D	0.999729	D	0.89917	1.0	D	0.79108	0.992	D	0.99421	1.0933	10	0.72032	D	0.01	-13.7741	18.3751	0.90433	0.0:0.0:1.0:0.0	.	78	O14521	DHSD_HUMAN	C	78;78;78;78;39	ENSP00000364699:G78C;ENSP00000435475:G78C;ENSP00000432465:G78C;ENSP00000432005:G78C;ENSP00000436669:G39C	ENSP00000436395:G78C	G	+	1	0	SDHD	111464863	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.374000	0.79633	2.336000	0.79503	0.585000	0.79938	GGT	SDHD	-	pfam_CybS	ENSG00000204370		0.498	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHD	HGNC	protein_coding	OTTHUMT00000392351.1	-	0	103	0	G	NM_003002		111959653	1	tier1	-	no_errors	ENST00000375549	ensembl	human	known	74_37	missense	43.62	53	41	SNP	1.000	T	T	111959653	G	T	111959653	3	4	58	1	0	0	0	0	1	0	0	0	14012	1232	43	3	242	3	SDHD	11	111959653	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	180005	111959653	23046863	1363	15746											
ANKK1	255239	genome.wustl.edu	37	chr11	113270316	113270316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagcggggcaaagtgagggCcatccaacacctgctgaaga	13	4	14	10	1	0	4	0	2	0	2	1	4	1	4	3	3	3	2	3	3	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:113270316C>T	ENST00000303941.3	+	8	1719	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	542							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AAAGTGAGGGCCATCCAACAC	0.607																																																	0													41	48	46					11																	113270316		2076	4225	6301	SO:0001583	missense	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"Ankyrin repeat domain containing"	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1625C>T	11.37:g.113270316C>T	ENSP00000306678:p.Ala542Val			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.A542V	ENST00000303941.3	37	c.1625	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052377	0.01981	.	.	ENSG00000170209	ENST00000303941	T	0.10763	2.84	4.88	3.94	0.45596	Ankyrin repeat-containing domain (4);	0.110360	0.38217	N	0.001765	T	0.04272	0.0118	N	0.11064	0.09	0.41654	D	0.989146	B	0.12630	0.006	B	0.19666	0.026	T	0.32161	-0.9917	10	0.02654	T	1	-27.658	6.4601	0.21952	0.0:0.7436:0.0:0.2564	.	542	Q8NFD2	ANKK1_HUMAN	V	542	ENSP00000306678:A542V	ENSP00000306678:A542V	A	+	2	0	ANKK1	112775526	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	3.140000	0.50585	2.547000	0.85894	0.563000	0.77884	GCC	ANKK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170209		0.607	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0	47	0	C	NM_178510		113270316	1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	T	T	113270316	C	T	113270316	3	4	58	1	0	0	0	0	1	0	0	0	631	739	26	3	1655	3	ANKK1	11	113270316	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1310663	113270316	21736200	1364	15747											
PAFAH1B2	5049	genome.wustl.edu	37	chr11	117031887	117031887	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagcttttttccccactTcatgcactgaattttggaat	9	15	7	10	1	1	2	1	1	0	1	2	4	2	3	2	1	2	2	2	1	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:117031887T>C	ENST00000527958.1	+	4	357	c.198T>C	c.(196-198)ctT>ctC	p.L66L	PAFAH1B2_ENST00000419197.2_Silent_p.L66L|PAFAH1B2_ENST00000530272.1_Silent_p.L66L|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Silent_p.L66L	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	66					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TTTCCCCACTTCATGCACTGA	0.368			T	IGH@	MLCLS																																			Dom	yes		11	11q23	5049	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"		L	0													89	92	91					11																	117031887		2201	4296	6497	SO:0001819	synonymous_variant	0			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"PAF-AH1b alpha 2 subunit"	602508	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.198T>C	11.37:g.117031887T>C			A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	pfam_Lipase_GDSL	p.L66	ENST00000527958.1	37	c.198	CCDS8380.1	11																																																																																			PAFAH1B2	-	pfam_Lipase_GDSL	ENSG00000168092		0.368	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B2	HGNC	protein_coding	OTTHUMT00000392826.1	-	0	91	0	T	NM_002572		117031887	1	tier1	-	no_errors	ENST00000527958	ensembl	human	known	74_37	silent	35.14	71	39	SNP	0.997	C	C	117031887	T	C	117031887	2	2	58	1	0	0	0	0	0	0	0	1	11424	1770	62	4		4	PAFAH1B2	11	117031887	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3761571	117031887	17974629	1365	15748											
PDZD3	79849	genome.wustl.edu	37	chr11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-																															cagctgagcgggcaggggtgCcccccggggcccggctgctg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119058335delC	ENST00000531114.1	+	4	1330	c.781delC	c.(781-783)cccfs	p.P262fs	PDZD3_ENST00000392817.2_Frame_Shift_Del_p.P262fs|PDZD3_ENST00000355547.5_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000525131.1_Frame_Shift_Del_p.P183fs|PDZD3_ENST00000322712.4_Frame_Shift_Del_p.P196fs			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	262	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552																																																	0									,	10,25,4157		1,0,8,9,7,2071	14	18	17		,	-3.2	1	11		17	12,64,8084		0,0,12,25,14,4029	no	codingComplex,codingComplex	PDZD3	NM_024791.3,NM_001168468.1	,	1,0,20,34,21,6100	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9314,0.8349,0.8986	,	,	119058335	22,89,12241	2181	4257	6438	SO:0001589	frameshift_variant	0			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"PDZ domain containing 2"	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.781delC	11.37:g.119058335delC	ENSP00000431164:p.Pro262fs		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A264fs	ENST00000531114.1	37	c.781		11																																																																																			PDZD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000172367		0.552	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1		0	42	0	C	NM_024791		119058335	1	tier1		no_errors	ENST00000392817	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.987	-	-	119058335	C	-	119058335	7	5	58	1	0	1	0	1	0	0	0	0	11741	739	26	0	605	0	PDZD3	11	119058335	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	2026448	119058335	15948181	1366	15749											
MCAM	4162	genome.wustl.edu	37	chr11	119182249	119182249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgctcaccgtgccgttGacgttccaggagatggtggg	6	8	14	13	4	1	2	1	1	0	1	2	3	2	2	4	3	1	3	4	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119182249G>T	ENST00000264036.4	-	11	1412	c.1398C>A	c.(1396-1398)gtC>gtA	p.V466V	MCAM_ENST00000392814.1_Silent_p.V415V	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	466	Ig-like C2-type 3.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCGTGCCGTTGACGTTCCAGG	0.582																																																	0													95	79	84					11																	119182249		2199	4295	6494	SO:0001819	synonymous_variant	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1398C>A	11.37:g.119182249G>T			O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V466	ENST00000264036.4	37	c.1398	CCDS31690.1	11																																																																																			MCAM	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000076706		0.582	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2		0	55	0	G			119182249	-1			no_errors	ENST00000264036	ensembl	human	known	74_37	silent	8.33	33	3	SNP	0.000	T	T	119182249	G	T	119182249	2	4	58	1	0	0	0	0	0	0	0	1	9406	1277	45	3		3	MCAM	11	119182249	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	123914	119182249	15824267	1367	15750											
MFRP	83552	genome.wustl.edu	37	chr11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-																															atggtgcgaggagacgaggtGggggggtggctctgctccac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119213688delG	ENST00000530681.1	-	10	1294	c.1150delC	c.(1150-1152)cacfs	p.H384fs	MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Frame_Shift_Del_p.H384fs|MFRP_ENST00000360167.4_Frame_Shift_Del_p.P308fs|MFRP_ENST00000449574.2_Frame_Shift_Del_p.H384fs	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	384	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H384fs*8(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622																																																	1	Insertion - Frameshift(1)	large_intestine(1)											34	27	29					11																	119213688		2196	4294	6490	SO:0001589	frameshift_variant	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1150delC	11.37:g.119213688delG	ENSP00000456533:p.His384fs		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.H384fs	ENST00000530681.1	37	c.1150	CCDS8421.1	11																																																																																			MFRP	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000235718		0.622	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	HGNC	protein_coding	OTTHUMT00000415179.1		0	22	0	G	NM_031433		119213688	-1	tier1		no_errors	ENST00000449574	ensembl	human	known	74_37	frame_shift_del	45.83	13	11	DEL	0.000	-	-	119213688	G	-	119213688	7	5	58	1	0	1	0	1	0	0	0	0	9564	1348	47	0	605	0	MFRP	11	119213688	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	31439	119213688	15792828	1368	15751											
PVRL1	5818	genome.wustl.edu	37	chr11	119549323	119549323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggttgtagatggccaCgttctgcttggagccattgg	6	12	16	7	1	1	1	0	0	1	1	1	3	1	3	2	5	2	4	2	5	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119549323C>T	ENST00000264025.3	-	2	762	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	PVRL1_ENST00000341398.2_Missense_Mutation_p.V78M|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.V78M	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	78	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TAGATGGCCACGTTCTGCTTG	0.602																																																	0													91	77	82					11																	119549323		2199	4295	6494	SO:0001583	missense	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9706	protein-coding gene	gene with protein product	"nectin"	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.232G>A	11.37:g.119549323C>T	ENSP00000264025:p.Val78Met		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.V78M	ENST00000264025.3	37	c.232	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445753	0.63178	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.66099	-0.19;-0.19;-0.19	5.55	4.63	0.57726	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.052204	0.85682	N	0.000000	T	0.75642	0.3877	M	0.67397	2.05	0.50039	D	0.99984	P;D;D	0.89917	0.928;1.0;0.994	B;D;P	0.97110	0.197;1.0;0.448	T	0.75889	-0.3158	9	.	.	.	.	12.6	0.56491	0.0:0.9188:0.0:0.0812	.	78;78;78	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	M	78	ENSP00000344974:V78M;ENSP00000264025:V78M;ENSP00000345289:V78M	.	V	-	1	0	PVRL1	119054533	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.618000	0.61211	1.320000	0.45209	0.462000	0.41574	GTG	PVRL1	-	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000110400		0.602	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	-	0	21	0	C			119549323	-1	tier1	-	no_errors	ENST00000264025	ensembl	human	known	74_37	missense	46.43	15	13	SNP	1.000	T	T	119549323	C	T	119549323	3	4	58	1	0	0	0	0	1	0	0	0	12884	536	19	1	1787	1	PVRL1	11	119549323	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	335635	119549323	15457193	1369	15752											
SORL1	6653	genome.wustl.edu	37	chr11	121430341	121430341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggggctcatggacatgaaGattttctacaaggggaagaa	14	8	13	6	1	2	3	1	1	1	2	2	5	2	5	0	5	1	1	0	5	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:121430341G>A	ENST00000260197.7	+	21	3153	c.3024G>A	c.(3022-3024)aaG>aaA	p.K1008K		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1008					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGACATGAAGATTTTCTACA	0.502																																																	0													87	86	86					11																	121430341		2203	4299	6502	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3024G>A	11.37:g.121430341G>A			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K1008	ENST00000260197.7	37	c.3024	CCDS8436.1	11																																																																																			SORL1	-	NULL	ENSG00000137642		0.502	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0	38	0	G	NM_003105		121430341	1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	silent	44.83	16	13	SNP	1.000	A	A	121430341	G	A	121430341	2	1	58	1	0	0	0	0	0	0	0	1	14979	933	33	3		3	SORL1	11	121430341	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1881018	121430341	13576175	1370	15753											
UBASH3B	84959	genome.wustl.edu	37	chr11	122678802	122678802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgattgtggcccacgCatcttcccttgaagcgtgta	7	12	9	13	2	1	2	0	2	1	0	3	2	3	2	3	1	1	2	3	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:122678802C>T	ENST00000284273.5	+	13	2105	c.1730C>T	c.(1729-1731)gCa>gTa	p.A577V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	577	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTGGCCCACGCATCTTCCCTT	0.458																																																	0													345	329	334					11																	122678802		2202	4299	6501	SO:0001583	missense	0			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1730C>T	11.37:g.122678802C>T	ENSP00000284273:p.Ala577Val		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.A577V	ENST00000284273.5	37	c.1730	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.635803	0.96682	.	.	ENSG00000154127	ENST00000284273	T	0.32023	1.47	5.85	5.85	0.93711	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.52779	-0.8530	10	0.66056	D	0.02	-18.5526	19.7681	0.96350	0.0:1.0:0.0:0.0	.	577	Q8TF42	UBS3B_HUMAN	V	577	ENSP00000284273:A577V	ENSP00000284273:A577V	A	+	2	0	UBASH3B	122184012	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	7.426000	0.80270	2.768000	0.95171	0.655000	0.94253	GCA	UBASH3B	-	pfam_His_Pase_superF_clade-1	ENSG00000154127		0.458	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	-	0	65	0	C	NM_032873		122678802	1	tier1	-	no_errors	ENST00000284273	ensembl	human	known	74_37	missense	46.55	31	27	SNP	1.000	T	T	122678802	C	T	122678802	3	4	58	1	0	0	0	0	1	0	0	0	16889	710	25	3	1780	3	UBASH3B	11	122678802	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1248461	122678802	12327714	1371	15754											
ZNF202	7753	genome.wustl.edu	37	chr11	123599869	123599869	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagagcaaccatctctgAgtctccagagctcctctctg	11	9	8	13	0	3	4	0	1	3	3	7	4	4	4	3	0	3	2	3	0	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:123599869A>T	ENST00000529691.1	-	4	886	c.667T>A	c.(667-669)Tca>Aca	p.S223T	ZNF202_ENST00000530393.1_Missense_Mutation_p.S223T|ZNF202_ENST00000336139.4_Missense_Mutation_p.S223T			O95125	ZN202_HUMAN	zinc finger protein 202	223					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACCATCTCTGAGTCTCCAGAG	0.498																																																	0													87	75	79					11																	123599869		2202	4299	6501	SO:0001583	missense	0			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"Zinc fingers, C2H2-type", "-", "-", "-"	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.667T>A	11.37:g.123599869A>T	ENSP00000433881:p.Ser223Thr		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S223T	ENST00000529691.1	37	c.667	CCDS8443.1	11	.	.	.	.	.	.	.	.	.	.	A	11.55	1.673608	0.29693	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.05925	3.37;3.37;3.37	5.42	-3.7	0.04437	.	0.820985	0.10253	N	0.696979	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.48246	-0.9052	10	0.14252	T	0.57	-0.2058	6.2231	0.20693	0.5954:0.0:0.2656:0.1389	.	223	O95125	ZN202_HUMAN	T	223	ENSP00000337724:S223T;ENSP00000432504:S223T;ENSP00000433881:S223T	ENSP00000337724:S223T	S	-	1	0	ZNF202	123105079	0.058000	0.20735	0.020000	0.16555	0.966000	0.64601	0.075000	0.14686	-0.687000	0.05162	-0.385000	0.06624	TCA	ZNF202	-	NULL	ENSG00000166261		0.498	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	-	0	35	0	A	NM_003455		123599869	-1	tier1	-	no_errors	ENST00000336139	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.021	T	T	123599869	A	T	123599869	3	4	58	1	0	0	0	0	1	0	0	0	17811	304	11	5	1295	5	ZNF202	11	123599869	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	921067	123599869	11406647	1372	15755											
OR8G1	26494	genome.wustl.edu	37	chr11	124120822	124120822	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccccttgctgtacagtGtcatcatatccaataaggct	10	12	8	11	0	2	0	2	0	0	0	3	0	3	0	3	1	3	4	3	1	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:124120822G>A	ENST00000534473.2	+	0	400				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GCTGTACAGTGTCATCATATC	0.443																																																	0													225	210	215					11																	124120822		2085	4228	6313			0			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"GPCR / Class A : Olfactory receptors"	8484	protein-coding gene	gene with protein product			"olfactory receptor, family 8, subfamily G, member 1 pseudogene"	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124120822G>A			Q8NG88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V134I	ENST00000534473.2	37	c.400		11																																																																																			OR8G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000197849		0.443	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	OR8G1	HGNC	polymorphic_pseudogene	OTTHUMT00000387282.2	-	0	164	0	G	NM_001002905		124120822	1	tier1	-	no_errors	ENST00000341493	ensembl	human	known	74_37	missense	44.37	79	63	SNP	0.000	A	A	124120822	G	A	124120822	1	1	58	0	1	0	0	0	0	0	0	0	11273	1377	48	3		3	OR8G1	11	124120822	RNA	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	520953	124120822	10885694	1373	15756											
TBRG1	84897	genome.wustl.edu	37	chr11	124502084	124502084	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttggtagatactcacctgCagcacttgaagtctccatca	10	11	7	13	0	3	2	2	1	1	1	4	2	3	2	3	1	3	3	3	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:124502084C>T	ENST00000441174.3	+	9	1390	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	TBRG1_ENST00000375005.4_Nonsense_Mutation_p.Q245*|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	396					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TACTCACCTGCAGCACTTGAA	0.473																																																	0													151	135	141					11																	124502084		2201	4299	6500	SO:0001587	stop_gained	0			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"nuclear interactor of ARF and MDM2"	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.1186C>T	11.37:g.124502084C>T	ENSP00000409016:p.Gln396*		Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Nonsense_Mutation	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.Q396*	ENST00000441174.3	37	c.1186	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	C	39	7.764511	0.98477	.	.	ENSG00000154144	ENST00000441174;ENST00000375005	.	.	.	5.69	4.75	0.60458	.	0.090744	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-6.8205	12.1362	0.53972	0.0:0.7788:0.2212:0.0	.	.	.	.	X	396;245	.	ENSP00000364144:Q245X	Q	+	1	0	TBRG1	124007294	0.827000	0.29292	0.981000	0.43875	0.940000	0.58332	0.404000	0.20999	1.298000	0.44778	0.655000	0.94253	CAG	TBRG1	-	NULL	ENSG00000154144		0.473	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	-	0	71	0	C	NM_032811		124502084	1	tier1	-	no_errors	ENST00000441174	ensembl	human	known	74_37	nonsense	33.33	57	29	SNP	1.000	T	T	124502084	C	T	124502084	4	4	58	1	0	0	0	0	0	1	0	0	15695	711	25	3	1220	3	TBRG1	11	124502084	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	381262	124502084	10504432	1374	15757											
RPUSD4	84881	genome.wustl.edu	37	chr11	126073407	126073407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggaatgcacaaagaagCgaggaagtttgcagaccaag	16	4	14	7	1	0	2	0	0	0	2	0	5	0	4	1	2	3	4	1	2	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:126073407C>T	ENST00000298317.4	-	7	1093	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	RPUSD4_ENST00000533628.1_Missense_Mutation_p.R316H|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	347					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CACAAAGAAGCGAGGAAGTTT	0.557																																																	0													108	104	105					11																	126073407		2201	4299	6500	SO:0001583	missense	0			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"RNA pseudouridylate synthase domain containing"	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.1040G>A	11.37:g.126073407C>T	ENSP00000298317:p.Arg347His		E9PML2|Q96K56	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.R347H	ENST00000298317.4	37	c.1040	CCDS8469.1	11	.	.	.	.	.	.	.	.	.	.	C	3.931	-0.016070	0.07681	.	.	ENSG00000165526	ENST00000298317;ENST00000533628	T;T	0.22539	1.95;1.95	5.35	-6.18	0.02085	Pseudouridine synthase, catalytic domain (1);	0.380216	0.29924	N	0.010843	T	0.07773	0.0195	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.28299	-1.0048	10	0.16420	T	0.52	-28.3816	5.2554	0.15544	0.0875:0.3137:0.0869:0.5118	.	316;347	E9PML2;Q96CM3	.;RUSD4_HUMAN	H	347;316	ENSP00000298317:R347H;ENSP00000433065:R316H	ENSP00000298317:R347H	R	-	2	0	RPUSD4	125578617	0.000000	0.05858	0.750000	0.31169	0.470000	0.32858	-2.735000	0.00802	-0.787000	0.04510	-0.670000	0.03821	CGC	RPUSD4	-	superfamily_PsdUridine_synth_cat_dom	ENSG00000165526		0.557	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD4	HGNC	protein_coding	OTTHUMT00000386336.1	-	0	84	0	C	NM_032795		126073407	-1	tier1	-	no_errors	ENST00000298317	ensembl	human	known	74_37	missense	42.86	52	39	SNP	0.019	T	T	126073407	C	T	126073407	3	4	58	1	0	0	0	0	1	0	0	0	13714	768	27	1	97	1	RPUSD4	11	126073407	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1571323	126073407	8933109	1375	15758											
KIRREL3	84623	genome.wustl.edu	37	chr11	126299148	126299148	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggacaatttccactcGgatatcatttttggctgaca	9	15	8	9	1	1	1	1	1	0	0	3	3	2	3	1	3	0	1	1	3	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:126299148G>A	ENST00000525144.2	-	15	1981	c.1732C>T	c.(1732-1734)Cga>Tga	p.R578*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.R566*|KIRREL3_ENST00000416561.2_Nonsense_Mutation_p.R45*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	578					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ATTTCCACTCGGATATCATTT	0.458																																																	0													96	99	98					11																	126299148		1942	4138	6080	SO:0001587	stop_gained	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1732C>T	11.37:g.126299148G>A	ENSP00000435466:p.Arg578*		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R578*	ENST00000525144.2	37	c.1732	CCDS53723.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.421659	0.97555	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	.	.	.	5.66	4.71	0.59529	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7594	15.9821	0.80116	0.0:0.0:0.8647:0.1353	.	.	.	.	X	578;566;45	.	ENSP00000408692:R45X	R	-	1	2	KIRREL3	125804358	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.330000	0.65899	2.668000	0.90789	0.561000	0.74099	CGA	KIRREL3	-	NULL	ENSG00000149571		0.458	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	-	0	64	0	G	NM_032531		126299148	-1	tier1	-	no_errors	ENST00000525144	ensembl	human	known	74_37	nonsense	36.67	37	22	SNP	1.000	A	A	126299148	G	A	126299148	4	1	58	1	0	0	0	0	0	1	0	0	8353	1124	39	1	616	1	KIRREL3	11	126299148	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	225741	126299148	8707368	1376	15759											
ST14	6768	genome.wustl.edu	37	chr11	130079458	130079458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcttcctcagcggcggCgtggactcctgccaggtggc	3	8	17	13	3	1	0	1	0	0	0	3	1	3	1	3	6	2	1	3	6	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:130079458C>T	ENST00000278742.5	+	18	2809	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	797	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAGCGGCGGCGTGGACTCCT	0.701																																																	0													14	12	13					11																	130079458		2169	4255	6424	SO:0001819	synonymous_variant	0			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"Serine peptidases / Transmembrane"	11344	protein-coding gene	gene with protein product	"epithin", "matriptase"	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2391C>T	11.37:g.130079458C>T			Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G797	ENST00000278742.5	37	c.2391	CCDS8487.1	11																																																																																			ST14	-	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000149418		0.701	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	-	0	41	0	C			130079458	1	tier1	-	no_errors	ENST00000278742	ensembl	human	known	74_37	silent	39.39	20	13	SNP	0.961	T	T	130079458	C	T	130079458	2	4	58	1	0	0	0	0	0	0	0	1	15258	755	27	1		1	ST14	11	130079458	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3780310	130079458	4927058	1377	15760											
ADAMTS8	11095	genome.wustl.edu	37	chr11	130281317	130281317	+	Frame_Shift_Del	DEL	G	G	-																															ctgagtggtaattaccgtcaGgggggcattcctccgtgtgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:130281317delG	ENST00000257359.6	-	6	2451	c.1745delC	c.(1744-1746)cctfs	p.P582fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	582					negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D583fs*1(1)|p.P583fs*61(1)|p.P582fs*61(1)|p.P611fs*61(1)|p.D584fs*1(1)|p.D612fs*1(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTACCGTCAGGGGGGCATTC	0.572																																																	6	Deletion - Frameshift(3)|Insertion - Frameshift(3)	large_intestine(3)|lung(3)											62	66	64					11																	130281317		1978	4127	6105	SO:0001589	frameshift_variant	0			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"ADAM metallopeptidases with thrombospondin type 1 motif"	224	protein-coding gene	gene with protein product		605175	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1745delC	11.37:g.130281317delG	ENSP00000257359:p.Pro582fs		Q9NZS0	Frame_Shift_Del	DEL	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.P582fs	ENST00000257359.6	37	c.1745	CCDS41732.1	11																																																																																			ADAMTS8	-	NULL	ENSG00000134917		0.572	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1		0	63	0	G	NM_007037		130281317	-1	tier1		no_errors	ENST00000257359	ensembl	human	known	74_37	frame_shift_del	31.58	26	12	DEL	0.014	-	-	130281317	G	-	130281317	7	5	58	1	0	1	0	1	0	0	0	0	272	1000	35	0	940	0	ADAMTS8	11	130281317	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	201859	130281317	4725199	1378	15761											
IGSF9B	22997	genome.wustl.edu	37	chr11	133795702	133795702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcgagcaactcccagcGctctgcgacacggaactcca	10	6	9	16	5	1	0	0	0	1	0	5	3	3	1	2	1	5	2	2	1	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:133795702G>A	ENST00000321016.8	-	14	2196	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R656C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	656	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AACTCCCAGCGCTCTGCGACA	0.592																																																	0													51	55	54					11																	133795702		2087	4230	6317	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1966C>T	11.37:g.133795702G>A	ENSP00000317980:p.Arg656Cys		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R656C	ENST00000321016.8	37	c.1966		11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008147	0.75046	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.54675	0.56;0.56;0.56	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152000	0.31031	N	0.008381	T	0.67173	0.2865	L	0.61218	1.895	0.47476	D	0.999435	D	0.76494	0.999	D	0.65443	0.935	T	0.68918	-0.5282	10	0.59425	D	0.04	.	13.1768	0.59633	0.0:0.0:0.7321:0.2679	.	656	Q9UPX0	TUTLB_HUMAN	C	656;498;656	ENSP00000317980:R656C;ENSP00000436552:R498C;ENSP00000436576:R656C	ENSP00000317980:R656C	R	-	1	0	IGSF9B	133300912	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.196000	0.51020	2.504000	0.84457	0.655000	0.94253	CGC	IGSF9B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080854		0.592	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0	67	0	G	XM_290502		133795702	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	43.14	29	22	SNP	1.000	A	A	133795702	G	A	133795702	3	1	58	1	0	0	0	0	1	0	0	0	7633	1087	38	1	2107	1	IGSF9B	11	133795702	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3514385	133795702	1210814	1379	15762											
NCAPD3	23310	genome.wustl.edu	37	chr11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-																															catgacagaacctctgacctGggggggtggctgagacgctg																								rs138442478		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:134048586delG	ENST00000534548.2	-	22	2789	c.2725delC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTCTGACCTGGGGGGGTGGC	0.522																																																	1	Insertion - Frameshift(1)	large_intestine(1)											91	93	93					11																	134048586		2201	4297	6498	SO:0001589	frameshift_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2725delC	11.37:g.134048586delG	ENSP00000433681:p.Gln909fs		A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pirsf_NCAPD3	p.Q909fs	ENST00000534548.2	37	c.2725	CCDS31723.1	11																																																																																			NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.522	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0	54	0	G	NM_015261		134048586	-1	tier1		no_errors	ENST00000534548	ensembl	human	known	74_37	frame_shift_del	49.23	33	32	DEL	1.000	-	-	134048586	G	-	134048586	7	5	58	1	0	1	0	1	0	0	0	0	10245	1357	47	0	1827	0	NCAPD3	11	134048586	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	252884	134048586	957930	1380	15763											
SLC6A13	6540	genome.wustl.edu	37	chr12	333174	333174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctctgtgagcatgatcAgccccacaaggaaggagacg	12	6	11	12	1	3	3	2	2	1	1	3	5	3	4	3	2	2	1	3	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:333174A>G	ENST00000343164.4	-	11	1347	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P	SLC6A13_ENST00000445055.2_Missense_Mutation_p.L340P|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	432					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGCATGATCAGCCCCACAAG	0.592																																																	0													95	84	87					12																	333174		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"Solute carriers"	11046	protein-coding gene	gene with protein product	"GABA transporter 2"	615097	"solute carrier family 6 (neurotransmitter transporter, GABA), member 13"				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1295T>C	12.37:g.333174A>G	ENSP00000339260:p.Leu432Pro		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.L432P	ENST00000343164.4	37	c.1295	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169833	0.57584	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.81330	-1.48;-1.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95869	0.8889	10	0.87932	D	0	.	15.2875	0.73838	1.0:0.0:0.0:0.0	.	340;411;432	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	P	340;411;432	ENSP00000407104:L340P;ENSP00000339260:L432P	ENSP00000318097:L411P	L	-	2	0	SLC6A13	203435	1.000000	0.71417	0.984000	0.44739	0.175000	0.22909	9.268000	0.95675	2.033000	0.60031	0.402000	0.26972	CTG	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.592	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	-	0	39	0	A	NM_016615		333174	-1	tier1	-	no_errors	ENST00000343164	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	G	G	333174	A	G	333174	3	3	58	1	0	0	0	0	1	0	0	0	14721	188	7	4	533	4	SLC6A13	12	333174	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09		333174	133518721	1381	15764											
CCDC77	84318	genome.wustl.edu	37	chr12	521005	521005	+	Frame_Shift_Del	DEL	C	C	-																															ggagtcaacccccttgccttCccccgaagatcgtctggcca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:521005delC	ENST00000239830.4	+	4	310	c.131delC	c.(130-132)tccfs	p.S44fs	CCDC77_ENST00000540180.1_Frame_Shift_Del_p.S12fs|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Frame_Shift_Del_p.S12fs|CCDC77_ENST00000422000.1_Frame_Shift_Del_p.S12fs	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	44						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCCTTGCCTTCCCCCGAAGAT	0.522																																																	0													107	95	99					12																	521005		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.131delC	12.37:g.521005delC	ENSP00000239830:p.Ser44fs		B4DDE8	Frame_Shift_Del	DEL	NULL	p.E46fs	ENST00000239830.4	37	c.131	CCDS8503.1	12																																																																																			CCDC77	-	NULL	ENSG00000120647		0.522	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1		0	23	0	C	NM_032358		521005	1	tier1		no_errors	ENST00000239830	ensembl	human	known	74_37	frame_shift_del	54.17	22	26	DEL	1.000	-	-	521005	C	-	521005	7	5	58	1	0	1	0	1	0	0	0	0	2858	855	30	0	137	0	CCDC77	12	521005	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	187831	521005	133330890	1382	15765											
NINJ2	283358	genome.wustl.edu	37	chr12	675233	675233	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagcaccgccttcagccGcatggcgttggacatgaaca	9	7	10	15	3	1	1	1	1	0	0	2	2	2	2	4	2	3	3	4	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:675233G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000542920.1_Missense_Mutation_p.R13W|NINJ2_ENST00000305108.4_Missense_Mutation_p.R95W|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_Missense_Mutation_p.R13W|NINJ2_ENST00000397265.3_Missense_Mutation_p.R42W	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCCTTCAGCCGCATGGCGTTG	0.612																																																	0													142	97	112					12																	675233		2203	4300	6503	SO:0001628	intergenic_variant	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675233G>A			Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	pfam_Ninjurin	p.R95W	ENST00000266383.5	37	c.283	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.070728	0.93950	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920;ENST00000433832	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.83	4.83	0.62350	.	0.237952	0.36628	N	0.002481	T	0.56485	0.1988	L	0.40543	1.245	0.53688	D	0.999977	D;D	0.89917	1.0;0.999	D;P	0.69654	0.965;0.877	T	0.61163	-0.7118	10	0.87932	D	0	-11.7848	17.9351	0.89010	0.0:0.0:1.0:0.0	.	95;49	B4DJC1;Q9NZG7	.;NINJ2_HUMAN	W	95;42;13;13	ENSP00000307552:R95W;ENSP00000380435:R42W;ENSP00000438831:R13W;ENSP00000415158:R13W	ENSP00000307552:R95W	R	-	1	2	NINJ2	545494	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.396000	0.73234	2.213000	0.71641	0.491000	0.48974	CGG	NINJ2	-	pfam_Ninjurin	ENSG00000171840		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ2	HGNC	protein_coding	OTTHUMT00000251406.2	-	0	57	0	G	NM_173593		675233	-1	tier1	-	no_errors	ENST00000305108	ensembl	human	known	74_37	missense	15.00	85	15	SNP	1.000	A	A	675233	G	A	675233	1	1	58	0	1	0	0	0	0	0	0	0	10458	1086	38	1		1	NINJ2	12	675233	IGR	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	154228	675233	133176662	1383	15766											
NINJ2	4815	genome.wustl.edu	37	chr12	772503	772503	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagaacttacttgaaggtcGatgttttctcttgctgattc	9	16	9	7	1	1	3	0	2	1	1	4	5	1	3	0	1	3	2	0	1	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:772503G>A	ENST00000305108.4	-	1	442	c.162C>T	c.(160-162)atC>atT	p.I54I	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	8					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTTGAAGGTCGATGTTTTCTC	0.537																																																	0													130	129	129					12																	772503		2203	4300	6503	SO:0001819	synonymous_variant	0			AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.162C>T	12.37:g.772503G>A				Silent	SNP	pfam_Ninjurin	p.I54	ENST00000305108.4	37	c.162	CCDS8505.1	12																																																																																			NINJ2	-	NULL	ENSG00000171840		0.537	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ2	HGNC	protein_coding	OTTHUMT00000206673.2	-	0	51	0	G	NM_016533		772503	-1	tier1	-	no_errors	ENST00000305108	ensembl	human	known	74_37	silent	22.73	68	20	SNP	0.000	A	A	772503	G	A	772503	2	1	58	1	0	0	0	0	0	0	0	1	10458	1048	37	1		1	NINJ2	12	772503	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	97270	772503	133079392	1384	15767											
CACNA2D4	93589	genome.wustl.edu	37	chr12	2019083	2019083	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactcaccaccagggattCattgaattcgtggttcaggt	9	11	12	9	1	3	1	3	1	0	0	4	3	3	3	2	4	0	1	2	4	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:2019083C>A	ENST00000382722.5	-	4	837	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.E95*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.E95*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.E159*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.E159*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.E159*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	159					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCAGGGATTCATTGAATTCG	0.602																																					Colon(2;101 179 21030 23310 28141)												0													46	50	49					12																	2019083		1934	4138	6072	SO:0001587	stop_gained	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.475G>T	12.37:g.2019083C>A	ENSP00000372169:p.Glu159*		Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E159*	ENST00000382722.5	37	c.475	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717959	0.89205	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.54	3.73	0.42828	.	0.420965	0.26099	N	0.026345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	6.746	0.23462	0.1415:0.7071:0.0:0.1514	.	.	.	.	X	95;159;159	.	ENSP00000280663:E159X	E	-	1	0	CACNA2D4	1889344	0.018000	0.18449	0.018000	0.16275	0.091000	0.18340	0.604000	0.24164	0.718000	0.32166	-0.221000	0.12465	GAA	CACNA2D4	-	pfam_VWA_N	ENSG00000151062		0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0	30	0	C			2019083	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	nonsense	15.38	44	8	SNP	0.025	A	A	2019083	C	A	2019083	4	1	58	1	0	0	0	0	0	1	0	0	2558	835	29	3	3078	3	CACNA2D4	12	2019083	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1246580	2019083	131832812	1385	15768											
KCNA6	3742	genome.wustl.edu	37	chr12	4919978	4919978	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtactcttgggggctcCttctttacagaccccttctt	5	15	7	14	0	4	1	1	0	3	1	5	1	5	1	3	2	2	2	3	2	2	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:4919978C>A	ENST00000280684.3	+	1	1637	c.771C>A	c.(769-771)tcC>tcA	p.S257S	KCNA6_ENST00000433855.1_Silent_p.S257S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	257					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TTGGGGGCTCCTTCTTTACAG	0.562										HNSCC(72;0.22)																																							0													86	90	89					12																	4919978		2203	4300	6503	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.771C>A	12.37:g.4919978C>A				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S257	ENST00000280684.3	37	c.771	CCDS8534.1	12																																																																																			KCNA6	-	prints_K_chnl_volt-dep_Kv1.6	ENSG00000151079		0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0	26	0	C	NM_002235		4919978	1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	silent	19.05	51	12	SNP	0.999	A	A	4919978	C	A	4919978	2	1	58	1	0	0	0	0	0	0	0	1	8034	668	24	3		3	KCNA6	12	4919978	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2900895	4919978	128931917	1386	15769											
ANO2	57101	genome.wustl.edu	37	chr12	5687598	5687598	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacttctttgcatcgagccGcacttcaatgacgttgttga	10	13	8	10	3	2	2	1	2	1	0	3	3	2	2	1	0	3	4	1	0	2	5	rs189494523	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:5687598G>T	ENST00000356134.5	-	23	2394	c.2323C>A	c.(2323-2325)Cgg>Agg	p.R775R	ANO2_ENST00000327087.8_Silent_p.R774R|ANO2_ENST00000546188.1_Silent_p.R775R	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	779					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCATCGAGCCGCACTTCAATG	0.547																																																	0													75	80	78					12																	5687598		2020	4174	6194	SO:0001819	synonymous_variant	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2323C>A	12.37:g.5687598G>T			C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.R775	ENST00000356134.5	37	c.2323		12																																																																																			ANO2	-	pfam_Anoctamin	ENSG00000047617		0.547	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0	49	0	G	NM_020373		5687598	-1	tier1	-	no_errors	ENST00000356134	ensembl	human	known	74_37	silent	61.76	39	63	SNP	0.981	T	T	5687598	G	T	5687598	2	4	58	1	0	0	0	0	0	0	0	1	697	1086	38	2		2	ANO2	12	5687598	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	767620	5687598	128164297	1387	15770											
NCAPD2	9918	genome.wustl.edu	37	chr12	6630171	6630171	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaggccatcattctcactCgagaagccacaggccacttc	12	7	8	14	1	2	1	2	0	1	1	5	3	2	1	3	2	1	0	3	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:6630171C>T	ENST00000315579.5	+	14	2408	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.R492*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	537	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATTCTCACTCGAGAAGCCAC	0.483																																																	0													63	62	62					12																	6630171		2203	4300	6503	SO:0001587	stop_gained	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1609C>T	12.37:g.6630171C>T	ENSP00000325017:p.Arg537*		D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.R537*	ENST00000315579.5	37	c.1609	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.078401	0.98048	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	.	.	.	5.5	5.5	0.81552	.	0.805508	0.11929	N	0.515875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-1.0547	19.5944	0.95530	0.0:1.0:0.0:0.0	.	.	.	.	X	537;409;492;409	.	ENSP00000325017:R537X	R	+	1	2	NCAPD2	6500432	0.016000	0.18221	0.230000	0.23976	0.622000	0.37654	1.620000	0.36976	2.868000	0.98415	0.555000	0.69702	CGA	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0	42	0	C	NM_014865		6630171	1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	nonsense	25.81	46	16	SNP	0.719	T	T	6630171	C	T	6630171	4	4	58	1	0	0	0	0	0	1	0	0	10244	876	31	1	1659	1	NCAPD2	12	6630171	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	942573	6630171	127221724	1388	15771											
PTPN6	5777	genome.wustl.edu	37	chr12	7069948	7069948	+	Intron	DEL	C	C	-																															gcaccaactgcctgtacttgCccccctgcacccggctgcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:7069948delC	ENST00000318974.9	+	15	1917				MIR200C_ENST00000384980.1_RNA|PTPN6_ENST00000399448.1_Intron|PTPN6_ENST00000539029.1_Intron|PTPN6_ENST00000447931.2_Intron|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000456013.1_Frame_Shift_Del_p.A599fs	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCTGTACTTGCCCCCCTGCAC	0.607																																																	0													35	41	39					12																	7069948		1986	4094	6080	SO:0001627	intron_variant	0				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1674-21C>-	12.37:g.7069948delC			A8K306|G3V0F8|Q969V8|Q9UK67	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.L601fs	ENST00000318974.9	37	c.1796	CCDS44820.1	12																																																																																			PTPN6	-	NULL	ENSG00000111679		0.607	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN6	HGNC	protein_coding	OTTHUMT00000400023.1		0	44	0	C	NM_002831		7069948	1	tier1		no_errors	ENST00000456013	ensembl	human	known	74_37	frame_shift_del	56.06	29	37	DEL	0.004	-	-	7069948	C	-	7069948	6	5	58	0	1	1	0	1	0	0	0	0	12837	739	26	0		0	PTPN6	12	7069948	Intron	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	439777	7069948	126781947	1389	15772											
CLSTN3	9746	genome.wustl.edu	37	chr12	7310095	7310095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctgcagtgatacccagCgccgcaaccctcatcattgt	8	10	7	16	2	3	1	2	1	1	0	4	1	3	1	3	0	4	2	3	0	2	2	rs376700576		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:7310095C>T	ENST00000266546.6	+	17	2988	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Silent_p.S858S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	846					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGATACCCAGCGCCGCAACCC	0.652																																																	0								C		0,4406		0,0,2203	57	46	50		2538	-4.7	0.5	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLSTN3	NM_014718.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		846/957	7310095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2538C>T	12.37:g.7310095C>T			D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S846	ENST00000266546.6	37	c.2538	CCDS8575.1	12																																																																																			CLSTN3	-	NULL	ENSG00000139182		0.652	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	-	0	44	0	C	NM_014718		7310095	1	tier1	-	no_errors	ENST00000266546	ensembl	human	known	74_37	silent	25.00	60	20	SNP	0.966	T	T	7310095	C	T	7310095	2	4	58	1	0	0	0	0	0	0	0	1	3570	767	27	1		1	CLSTN3	12	7310095	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	240147	7310095	126541800	1390	15773											
KLRD1	3824	genome.wustl.edu	37	chr12	10466007	10466007	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcttttacttgaagcAggattttatgagctccagtc	9	16	9	7	0	1	2	0	2	1	0	3	4	2	3	1	1	3	2	1	1	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:10466007A>G	ENST00000381907.4	+	6	517		c.e6-1		KLRD1_ENST00000336164.4_Splice_Site|KLRD1_ENST00000381908.3_Splice_Site_p.Q106R|KLRD1_ENST00000543420.1_Intron|KLRD1_ENST00000543777.1_Splice_Site|KLRD1_ENST00000350274.5_Splice_Site	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TACTTGAAGCAGGATTTTATG	0.403																																																	0													130	135	133					12																	10466007		2203	4300	6503	SO:0001630	splice_region_variant	0			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"Killer cell lectin-like receptors", "CD molecules"	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.316-1A>G	12.37:g.10466007A>G			O43321|O43773|Q9UBE3|Q9UEQ0	Splice_Site	SNP	-	e5-2	ENST00000381907.4	37	c.316-2	CCDS8621.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.08|10.08	1.252262|1.252262	0.22880|0.22880	.|.	.|.	ENSG00000134539|ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000336164;ENST00000350274;ENST00000543777|ENST00000381908	.|T	.|0.18016	.|2.24	5.65|5.65	4.51|4.51	0.55191|0.55191	.|.	.|0.144262	.|0.32459	.|N	.|0.006066	.|T	.|0.18173	.|0.0436	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.50943	.|0.94	.|P	.|0.49421	.|0.61	.|T	.|0.01725	.|-1.1287	.|9	.|0.22706	.|T	.|0.39	.|.	7.79|7.79	0.29114|0.29114	0.9087:0.0:0.0913:0.0|0.9087:0.0:0.0913:0.0	.|.	.|106	.|Q13241-2	.|.	.|R	-1|106	.|ENSP00000371333:Q106R	.|ENSP00000371333:Q106R	.|Q	+|+	.|2	.|0	KLRD1|KLRD1	10357274|10357274	0.943000|0.943000	0.32029|0.32029	0.365000|0.365000	0.25901|0.25901	0.081000|0.081000	0.17604|0.17604	2.884000|2.884000	0.48562|0.48562	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	.|CAG	KLRD1	-	-	ENSG00000134539		0.403	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	-	0	45	0	A	NM_002262	Intron	10466007	1	tier1	-	no_errors	ENST00000336164	ensembl	human	known	74_37	splice_site	30.16	44	19	SNP	0.324	G	G	10466007	A	G	10466007	5	3	58	1	0	0	0	0	0	0	1	0	8446	202	7	4	332	4	KLRD1	12	10466007	Splice_Site	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	3155912	10466007	123385888	1391	15774											
KIAA1467	57613	genome.wustl.edu	37	chr12	13221246	13221246	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatttaacccagtgatggtgTtgaactactccagatggtga	11	13	10	7	0	0	4	0	3	0	1	1	4	1	4	2	2	3	1	2	2	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:13221246T>C	ENST00000197268.8	+	8	1271	c.1151T>C	c.(1150-1152)gTt>gCt	p.V384A		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	384						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGTGATGGTGTTGAACTACTC	0.463																																																	0													96	89	92					12																	13221246		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1151T>C	12.37:g.13221246T>C	ENSP00000197268:p.Val384Ala		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.V384A	ENST00000197268.8	37	c.1151	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188327	0.78789	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.37915	1.17	5.42	5.42	0.78866	.	0.246248	0.42420	D	0.000710	T	0.57533	0.2060	M	0.74881	2.28	0.49389	D	0.999789	D	0.69078	0.997	D	0.62955	0.909	T	0.62661	-0.6807	10	0.72032	D	0.01	-12.6034	14.0414	0.64676	0.0:0.0:0.0:1.0	.	384	A2RU67	K1467_HUMAN	A	384;160	ENSP00000197268:V384A	ENSP00000197268:V384A	V	+	2	0	KIAA1467	13112513	1.000000	0.71417	0.935000	0.37517	0.888000	0.51559	5.127000	0.64727	2.049000	0.60858	0.533000	0.62120	GTT	KIAA1467	-	NULL	ENSG00000084444		0.463	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0	62	0	T	NM_020853		13221246	1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	missense	15.53	87	16	SNP	0.999	C	C	13221246	T	C	13221246	3	2	58	1	0	0	0	0	1	0	0	0	8262	1725	60	4	1181	4	KIAA1467	12	13221246	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2755239	13221246	120630649	1392	15775											
GRIN2B	2904	genome.wustl.edu	37	chr12	14019063	14019063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggggggctcttctgagaaCgagctctgctgcctgacacg	6	9	15	11	2	3	2	0	2	3	1	3	4	3	2	1	3	4	3	1	3	1	1	rs200727145		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:14019063C>T	ENST00000609686.1	-	2	289	c.80G>A	c.(79-81)cGt>cAt	p.R27H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	27					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCTGAGAACGAGCTCTGCT	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		18901	0		0	False		,,,				2504	0																0													48	52	51					12																	14019063		2203	4300	6503	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.80G>A	12.37:g.14019063C>T	ENSP00000477455:p.Arg27His		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R27H	ENST00000609686.1	37	c.80	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710101	0.30322	.	.	ENSG00000150086	ENST00000279593	T	0.12039	2.72	5.7	5.7	0.88788	.	0.136393	0.52532	D	0.000072	T	0.06962	0.0177	N	0.08118	0	0.19775	N	0.999958	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	10	0.14252	T	0.57	.	11.7587	0.51890	0.0:0.9128:0.0:0.0872	.	27	Q13224	NMDE2_HUMAN	H	27	ENSP00000279593:R27H	ENSP00000279593:R27H	R	-	2	0	GRIN2B	13910330	0.935000	0.31712	0.935000	0.37517	0.996000	0.88848	1.654000	0.37334	2.680000	0.91292	0.563000	0.77884	CGT	GRIN2B	-	NULL	ENSG00000273079		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0	15	0	C			14019063	-1	tier1	rs200727145	no_errors	ENST00000609686	ensembl	human	known	74_37	missense	81.25	3	13	SNP	0.256	T	T	14019063	C	T	14019063	3	4	58	1	0	0	0	0	1	0	0	0	6807	536	19	1	4422	1	GRIN2B	12	14019063	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	797817	14019063	119832832	1393	15776											
ATF7IP	55729	genome.wustl.edu	37	chr12	14649259	14649261	+	In_Frame_Del	DEL	ACC	ACC	-																															cagctcacagtgcatcaccgAccaccacaagtgcatactgt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:14649259_14649261delACC	ENST00000540793.1	+	13	3530_3532	c.3375_3377delACC	c.(3373-3378)cgacca>cga	p.P1127del	ATF7IP_ENST00000544627.1_In_Frame_Del_p.P1135del|ATF7IP_ENST00000536444.1_In_Frame_Del_p.P1126del|ATF7IP_ENST00000261168.4_In_Frame_Del_p.P1127del			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1127					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGCATCACCGACCACCACAAGTG	0.394																																																	0																																										SO:0001651	inframe_deletion	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3375_3377delACC	12.37:g.14649262_14649264delACC	ENSP00000444589:p.Pro1127del		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	In_Frame_Del	DEL	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P1127in_frame_del	ENST00000540793.1	37	c.3375_3377	CCDS8663.1	12																																																																																			ATF7IP	-	NULL	ENSG00000171681		0.394	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1		0	26	0	ACC	NM_018179		14649261	1	tier1		no_errors	ENST00000261168	ensembl	human	known	74_37	in_frame_del	23.88	51	16	DEL	0.882:1.000:1.000	-	-	14649261	ACC	-	14649259	7	5	58	1	0	1	0	1	0	0	0	0	1088	262	10	0	3425	0	ATF7IP	12	14649259	In_Frame_Del	DEL	ACC	TCGA-L5-A4OI-01A-11D-A27G-09	630196	14649259	119202636	1394	15777											
GUCY2C	2984	genome.wustl.edu	37	chr12	14832637	14832637	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttcagccactgctcGgtcacccttcagcttgtaga	8	12	8	13	1	4	1	3	0	1	1	5	1	4	1	2	1	3	3	2	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:14832637G>A	ENST00000261170.3	-	6	920	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	262					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GCCACTGCTCGGTCACCCTTC	0.413																																																	0													153	138	143					12																	14832637		2203	4300	6503	SO:0001587	stop_gained	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.784C>T	12.37:g.14832637G>A	ENSP00000261170:p.Arg262*		B2RMY6	Nonsense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.R262*	ENST00000261170.3	37	c.784	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633016	0.87660	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.57	2.67	0.31697	.	1.229650	0.05517	N	0.561406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	6.8423	0.23969	0.3015:0.0:0.6985:0.0	.	.	.	.	X	262	.	ENSP00000261170:R262X	R	-	1	2	GUCY2C	14723904	0.000000	0.05858	0.020000	0.16555	0.050000	0.14768	0.086000	0.14935	0.267000	0.21916	0.650000	0.86243	CGA	GUCY2C	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000070019		0.413	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	-	0	45	0	G			14832637	-1	tier1	-	no_errors	ENST00000261170	ensembl	human	known	74_37	nonsense	25.32	59	20	SNP	0.006	A	A	14832637	G	A	14832637	4	1	58	1	0	0	0	0	0	1	0	0	6923	1124	39	1	2525	1	GUCY2C	12	14832637	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	183378	14832637	119019258	1395	15778											
PLEKHA5	54477	genome.wustl.edu	37	chr12	19501363	19501363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagactctacaagagtgaaCcagagttaacaacagtggca	17	7	9	8	0	1	4	0	1	1	3	1	4	1	4	1	1	4	2	1	1	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:19501363C>T	ENST00000299275.6	+	19	2437	c.2431C>T	c.(2431-2433)Cca>Tca	p.P811S	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P977S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.P793S|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.P869S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.P569S|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.P800S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P874S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P869S	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	811					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAAGAGTGAACCAGAGTTAAC	0.343																																					Pancreas(196;329 2193 11246 14234 19524)												0													98	100	99					12																	19501363		2203	4300	6503	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"Pleckstrin homology (PH) domain containing"	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2431C>T	12.37:g.19501363C>T	ENSP00000299275:p.Pro811Ser		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.P874S	ENST00000299275.6	37	c.2620	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714942	0.89112	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.09	5.09	0.68999	.	0.056069	0.64402	N	0.000001	T	0.73032	0.3535	M	0.73962	2.25	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.996;0.998;0.999;0.999	T	0.72327	-0.4327	10	0.38643	T	0.18	-14.7126	18.8652	0.92289	0.0:1.0:0.0:0.0	.	874;793;800;972;977;811;869	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	S	874;869;973;977;811;569;869;800;793;766	ENSP00000325155:P874S;ENSP00000347560:P869S;ENSP00000404296:P977S;ENSP00000299275:P811S;ENSP00000440611:P569S;ENSP00000439673:P869S;ENSP00000400411:P800S;ENSP00000439837:P793S;ENSP00000440371:P766S	ENSP00000299275:P811S	P	+	1	0	PLEKHA5	19392630	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.461000	0.73522	2.489000	0.83994	0.563000	0.77884	CCA	PLEKHA5	-	NULL	ENSG00000052126		0.343	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	-	0	62	0	C	NM_019012		19501363	1	tier1	-	no_errors	ENST00000317589	ensembl	human	known	74_37	missense	72.90	42	113	SNP	1.000	T	T	19501363	C	T	19501363	3	4	58	1	0	0	0	0	1	0	0	0	12098	507	18	3	2823	3	PLEKHA5	12	19501363	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4668726	19501363	114350532	1396	15779											
ITPR2	3709	genome.wustl.edu	37	chr12	26629856	26629856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcttaccagttctctggGtctcatgttaaaaagaattc	10	17	6	8	0	3	1	1	0	3	1	6	1	3	1	1	1	1	2	1	1	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:26629856G>T	ENST00000381340.3	-	44	6624	c.6208C>A	c.(6208-6210)Ccc>Acc	p.P2070T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2070					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTTCTCTGGGTCTCATGTTA	0.348																																																	0													114	101	105					12																	26629856		1813	4074	5887	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6208C>A	12.37:g.26629856G>T	ENSP00000370744:p.Pro2070Thr		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.P2070T	ENST00000381340.3	37	c.6208	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565589	0.86439	.	.	ENSG00000123104	ENST00000381340	D	0.92647	-3.08	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95205	0.8320	10	0.45353	T	0.12	.	18.7412	0.91774	0.0:0.0:1.0:0.0	.	2070	Q14571	ITPR2_HUMAN	T	2070	ENSP00000370744:P2070T	ENSP00000370744:P2070T	P	-	1	0	ITPR2	26521123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.584000	0.98220	2.650000	0.89964	0.585000	0.79938	CCC	ITPR2	-	NULL	ENSG00000123104		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	-	0	38	0	G	NM_002223		26629856	-1	tier1	-	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	26629856	G	T	26629856	3	4	58	1	0	0	0	0	1	0	0	0	7948	1261	44	3	1953	3	ITPR2	12	26629856	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7128493	26629856	107222039	1397	15780											
TM7SF3	51768	genome.wustl.edu	37	chr12	27127036	27127037	+	Frame_Shift_Del	DEL	CT	CT	-																															agaatgtttgtcactcggcgCtctctctcttgcttccataa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:27127036_27127037delCT	ENST00000343028.4	-	12	1799_1800	c.1574_1575delAG	c.(1573-1575)gagfs	p.E525fs	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	525						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCACTCGGCGCTCTCTCTCTTG	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1574_1575delAG	12.37:g.27127044_27127045delCT	ENSP00000342322:p.Glu525fs		B3KMZ3|Q9NUS4	Frame_Shift_Del	DEL	NULL	p.E525fs	ENST00000343028.4	37	c.1575_1574	CCDS8710.1	12																																																																																			TM7SF3	-	NULL	ENSG00000064115		0.505	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1		0	101	0	CT	NM_016551		27127037	-1	tier1		no_errors	ENST00000343028	ensembl	human	known	74_37	frame_shift_del	21.47	139	38	DEL	0.999:1.000	-	-	27127037	CT	-	27127036	7	5	58	1	0	1	0	1	0	0	0	0	16022	796	28	0	141	0	TM7SF3	12	27127036	Frame_Shift_Del	DEL	CT	TCGA-L5-A4OI-01A-11D-A27G-09	497180	27127036	106724859	1398	15781											
ARNTL2	56938	genome.wustl.edu	37	chr12	27573424	27573424	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaagcagaggggggcctgGgagaccctggggacttcagt	9	6	18	8	0	1	3	1	0	0	3	1	5	1	4	2	6	1	1	2	6	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:27573424G>T	ENST00000266503.5	+	17	1888	c.1870G>T	c.(1870-1872)Gga>Tga	p.G624*	ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.G539*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.G610*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.G587*|ARNTL2_ENST00000544915.1_Nonsense_Mutation_p.G590*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.G576*			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	624					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGGGGGCCTGGGAGACCCTGG	0.438																																																	0													79	83	81					12																	27573424		2203	4300	6503	SO:0001587	stop_gained	0			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"Basic helix-loop-helix proteins"	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1870G>T	12.37:g.27573424G>T	ENSP00000266503:p.Gly624*		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Nonsense_Mutation	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.G624*	ENST00000266503.5	37	c.1870	CCDS8712.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.1|22.1	4.251092|4.251092	0.80135|0.80135	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	.|.	.|.	.|.	3.63|3.63	2.73|2.73	0.32206|0.32206	.|.	0.071294|.	0.56097|.	D|.	0.000031|.	.|T	.|0.55752	.|0.1940	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999985|0.999985	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49771	.|-0.8904	.|4	0.87932|.	D|.	0|.	.|.	7.4191|7.4191	0.27061|0.27061	0.2045:0.0:0.7955:0.0|0.2045:0.0:0.7955:0.0	.|.	.|.	.|.	.|.	X|C	590;587;610;576;624;539|575	.|.	ENSP00000261178:G576X|.	G|W	+|+	1|3	0|0	ARNTL2|ARNTL2	27464691|27464691	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.946000|0.946000	0.59487|0.59487	3.827000|3.827000	0.55745|0.55745	0.862000|0.862000	0.35528|0.35528	0.563000|0.563000	0.77884|0.77884	GGA|TGG	ARNTL2	-	NULL	ENSG00000029153		0.438	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNTL2	HGNC	protein_coding	OTTHUMT00000403162.1		0	25	0	G	NM_020183		27573424	1			no_errors	ENST00000266503	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	0.984	T	T	27573424	G	T	27573424	4	4	58	1	0	0	0	0	0	1	0	0	969	1233	43	3	1936	3	ARNTL2	12	27573424	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	446388	27573424	106278471	1399	15782											
KLHDC5	57542	genome.wustl.edu	37	chr12	27950769	27950769	+	Frame_Shift_Del	DEL	G	G	-																															gaagagaccatctacatcgtGggggggtgtctccacgagct																								rs145908611	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:27950769delG	ENST00000381271.2	+	3	1499	c.1188delG	c.(1186-1188)gtgfs	p.V396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCTACATCGTGGGGGGGTGTC	0.592																																																	0													102	99	100					12																	27950769		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1188delG	12.37:g.27950769delG	ENSP00000370671:p.Val396fs		Q2VPK1|Q8N334	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.C399fs	ENST00000381271.2	37	c.1188	CCDS31763.1	12																																																																																			KLHL42	-	NULL	ENSG00000087448		0.592	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL42	HGNC	protein_coding	OTTHUMT00000402904.1		0	41	0	G	NM_020782		27950769	1	tier1		no_errors	ENST00000381271	ensembl	human	known	74_37	frame_shift_del	29.17	51	21	DEL	0.988	-	-	27950769	G	-	27950769	7	5	58	1	0	1	0	1	0	0	0	0	8386	1335	47	0	1198	0	KLHDC5	12	27950769	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	377345	27950769	105901126	1400	15783											
DENND5B	160518	genome.wustl.edu	37	chr12	31586118	31586118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttgtccagcccaacatGctcagaatgctggcgaaggc	9	8	12	12	2	1	1	1	0	0	1	3	2	2	1	2	2	4	3	2	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:31586118G>T	ENST00000389082.5	-	8	2341	c.2077C>A	c.(2077-2079)Cat>Aat	p.H693N	DENND5B_ENST00000536562.1_Missense_Mutation_p.H728N|DENND5B_ENST00000354285.4_Missense_Mutation_p.H715N|DENND5B_ENST00000306833.6_Missense_Mutation_p.H728N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	693					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCCCAACATGCTCAGAATGC	0.502																																																	0													166	177	173					12																	31586118		2139	4250	6389	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"DENN/MADD domain containing"	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2077C>A	12.37:g.31586118G>T	ENSP00000373734:p.His693Asn		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.H728N	ENST00000389082.5	37	c.2182	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359561	0.41801	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.08546	3.75;3.86;3.86;3.08	4.37	4.37	0.52481	.	0.133751	0.49916	D	0.000126	T	0.14527	0.0351	M	0.62723	1.935	0.58432	D	0.999998	P;B;B	0.34629	0.46;0.048;0.069	B;B;B	0.39706	0.307;0.015;0.062	T	0.05321	-1.0892	10	0.33141	T	0.24	-12.5507	17.1258	0.86713	0.0:0.0:1.0:0.0	.	715;693;728	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	N	693;728;728;715	ENSP00000373734:H693N;ENSP00000306482:H728N;ENSP00000444889:H728N;ENSP00000346238:H715N	ENSP00000306482:H728N	H	-	1	0	DENND5B	31477385	1.000000	0.71417	0.190000	0.23270	0.517000	0.34286	9.154000	0.94694	2.248000	0.74166	0.655000	0.94253	CAT	DENND5B	-	NULL	ENSG00000170456		0.502	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1		0	40	0	G	NM_144973		31586118	-1			no_errors	ENST00000306833	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	31586118	G	T	31586118	3	4	58	1	0	0	0	0	1	0	0	0	4451	1319	46	3	1803	3	DENND5B	12	31586118	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3635349	31586118	102265777	1401	15784											
BICD1	636	genome.wustl.edu	37	chr12	32491758	32491758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgatcagagccgtcccaGgacttcaggggcttcctacc	7	10	11	13	1	2	2	2	1	0	1	4	3	4	3	4	3	2	1	4	3	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:32491758G>T	ENST00000281474.5	+	8	2712	c.2609G>T	c.(2608-2610)aGg>aTg	p.R870M	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	870					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCCGTCCCAGGACTTCAGGG	0.423																																																	0													105	118	114					12																	32491758		2203	4300	6503	SO:0001583	missense	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2609G>T	12.37:g.32491758G>T	ENSP00000281474:p.Arg870Met		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.R870M	ENST00000281474.5	37	c.2609	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715795	0.68844	.	.	ENSG00000151746	ENST00000281474	T	0.53857	0.6	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000070	T	0.52693	0.1750	N	0.08118	0	0.80722	D	1	D	0.61080	0.989	P	0.61533	0.89	T	0.63242	-0.6681	10	0.87932	D	0	.	17.8174	0.88639	0.0:0.0:1.0:0.0	.	870	Q96G01	BICD1_HUMAN	M	870	ENSP00000281474:R870M	ENSP00000281474:R870M	R	+	2	0	BICD1	32383025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.170000	0.58229	2.649000	0.89929	0.591000	0.81541	AGG	BICD1	-	NULL	ENSG00000151746		0.423	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	-	0	46	0	G	NM_001714		32491758	1	tier1	-	no_errors	ENST00000281474	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	32491758	G	T	32491758	3	4	58	1	0	0	0	0	1	0	0	0	1430	1000	35	3	2639	3	BICD1	12	32491758	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	905640	32491758	101360137	1402	15785											
CPNE8	144402	genome.wustl.edu	37	chr12	39079292	39079292	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctactctctacttacCttgctacatgattaattaca	10	17	3	11	0	2	1	0	1	2	0	3	1	2	1	1	0	6	1	1	0	6	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:39079292C>T	ENST00000331366.5	-	16	1367	c.1271G>A	c.(1270-1272)aGa>aAa	p.R424K	CPNE8_ENST00000360449.3_Splice_Site_p.R412K|CPNE8_ENST00000538596.2_Splice_Site_p.R93K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	424	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTCTACTTACCTTGCTACATG	0.418																																																	0													169	156	160					12																	39079292		2203	4300	6503	SO:0001630	splice_region_variant	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1271+1G>A	12.37:g.39079292C>T			Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R424K	ENST00000331366.5	37	c.1271	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487553	0.63962	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.20881	2.04;2.04;2.04	4.71	4.71	0.59529	von Willebrand factor, type A (2);Copine (1);	0.046812	0.85682	D	0.000000	T	0.22781	0.0550	L	0.42245	1.32	0.80722	D	1	B	0.27166	0.17	B	0.33121	0.158	T	0.03852	-1.0998	9	.	.	.	-15.1931	17.3227	0.87240	0.0:1.0:0.0:0.0	.	424	Q86YQ8	CPNE8_HUMAN	K	424;93;412	ENSP00000329748:R424K;ENSP00000439237:R93K;ENSP00000353633:R412K	.	R	-	2	0	CPNE8	37365559	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.154000	0.77437	2.549000	0.85964	0.655000	0.94253	AGA	CPNE8	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A	ENSG00000139117		0.418	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0	91	0	C	NM_153634	Missense_Mutation	39079292	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	44.16	43	34	SNP	1.000	T	T	39079292	C	T	39079292	5	4	58	1	0	0	0	0	0	0	1	0	3825	695	24	3	443	3	CPNE8	12	39079292	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6587534	39079292	94772603	1403	15786											
KIF21A	55605	genome.wustl.edu	37	chr12	39726722	39726722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgttgccggcgttggtAaggcctggactctcgccaca	6	11	12	12	3	1	0	0	0	1	0	2	1	1	1	3	4	1	3	3	4	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:39726722A>G	ENST00000361418.5	-	19	2690	c.2675T>C	c.(2674-2676)tTa>tCa	p.L892S	KIF21A_ENST00000544797.2_Missense_Mutation_p.L879S|KIF21A_ENST00000361961.3_Missense_Mutation_p.L879S|KIF21A_ENST00000541463.2_Missense_Mutation_p.L856S|KIF21A_ENST00000395670.3_Missense_Mutation_p.L892S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	892				L -> S (in Ref. 2; CAJ45483). {ECO:0000305}.	ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CGGCGTTGGTAAGGCCTGGAC	0.463																																																	0													74	75	75					12																	39726722		2203	4300	6503	SO:0001583	missense	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2675T>C	12.37:g.39726722A>G	ENSP00000354878:p.Leu892Ser		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.L892S	ENST00000361418.5	37	c.2675	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.173|5.173	0.217470|0.217470	0.09810|0.09810	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.69306|.	-0.39;-0.35;-0.39;-0.3;-0.38|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.41194|.	D|.	0.000935|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.31664|0.31664	0.95|0.95	0.35676|0.35676	D|D	0.813715|0.813715	B;B;B;B;B|.	0.34290|.	0.005;0.447;0.001;0.016;0.199|.	B;B;B;B;B|.	0.33690|.	0.007;0.168;0.005;0.013;0.117|.	T|T	0.55909|0.55909	-0.8066|-0.8066	10|5	0.08837|.	T|.	0.75|.	.|.	10.1492|10.1492	0.42782|0.42782	0.9255:0.0:0.0745:0.0|0.9255:0.0:0.0745:0.0	.|.	879;856;892;879;892|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	S|H	879;892;892;879;892;856|240	ENSP00000354851:L879S;ENSP00000379029:L892S;ENSP00000445606:L879S;ENSP00000354878:L892S;ENSP00000438075:L856S|.	ENSP00000344501:L892S|.	L|Y	-|-	2|1	0|0	KIF21A|KIF21A	38012989|38012989	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	3.595000|3.595000	0.54016|0.54016	2.131000|2.131000	0.65755|0.65755	0.455000|0.455000	0.32223|0.32223	TTA|TAC	KIF21A	-	NULL	ENSG00000139116		0.463	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	-	0	69	0	A	NM_017641		39726722	-1	tier1	-	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	32.08	35	17	SNP	1.000	G	G	39726722	A	G	39726722	3	3	58	1	0	0	0	0	1	0	0	0	8315	372	13	4	2429	4	KIF21A	12	39726722	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	647430	39726722	94125173	1404	15787											
LRRK2	120892	genome.wustl.edu	37	chr12	40702287	40702287	+	Frame_Shift_Del	DEL	A	A	-																															aggtttcttcaacagcgattAaaaaaggctgtgccttataa																								rs201636831		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:40702287delA	ENST00000298910.7	+	29	4036	c.3978delA	c.(3976-3978)ttafs	p.L1326fs		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1326					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACAGCGATTAAAAAAGGCTG	0.313																																																	0													47	48	48					12																	40702287		2203	4299	6502	SO:0001589	frameshift_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3978delA	12.37:g.40702287delA	ENSP00000298910:p.Leu1326fs		A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.K1328fs	ENST00000298910.7	37	c.3978	CCDS31774.1	12																																																																																			LRRK2	-	NULL	ENSG00000188906		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	35	0	A	XM_058513		40702287	1	tier1		no_errors	ENST00000298910	ensembl	human	known	74_37	frame_shift_del	38.64	27	17	DEL	0.982	-	-	40702287	A	-	40702287	7	5	58	1	0	1	0	1	0	0	0	0	9068	359	13	0	4092	0	LRRK2	12	40702287	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	975565	40702287	93149608	1405	15788											
GXYLT1	283464	genome.wustl.edu	37	chr12	42499672	42499672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatcaacataactccagagTttactccagtttttccataa	13	14	3	11	0	2	1	2	0	0	1	5	1	5	1	3	0	3	2	3	0	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:42499672T>C	ENST00000398675.3	-	5	1044	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GXYLT1_ENST00000280876.6_Missense_Mutation_p.N240S	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	271					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AACTCCAGAGTTTACTCCAGT	0.383																																																	0													80	74	76					12																	42499672		1842	4104	5946	SO:0001583	missense	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.812A>G	12.37:g.42499672T>C	ENSP00000381666:p.Asn271Ser		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.N271S	ENST00000398675.3	37	c.812	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850264	0.91277	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.39056	1.1;1.1	6.07	6.07	0.98685	.	0.039606	0.85682	D	0.000000	T	0.70343	0.3213	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75918	-0.3148	10	0.87932	D	0	-17.8753	16.6407	0.85098	0.0:0.0:0.0:1.0	.	240;271	Q4G148-2;Q4G148	.;GXLT1_HUMAN	S	271;240	ENSP00000381666:N271S;ENSP00000280876:N240S	ENSP00000280876:N240S	N	-	2	0	GXYLT1	40785939	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.991000	0.88244	2.326000	0.78906	0.533000	0.62120	AAC	GXYLT1	-	pfam_Glyco_trans_8	ENSG00000151233		0.383	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	-	0	29	0	T	XM_290597		42499672	-1	tier1	-	no_errors	ENST00000398675	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	C	C	42499672	T	C	42499672	3	2	58	1	0	0	0	0	1	0	0	0	6930	1725	60	4	526	4	GXYLT1	12	42499672	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1797385	42499672	91352223	1406	15789											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46321475	46321475	+	Frame_Shift_Del	DEL	T	T	-																															atttggtgttcagaagattaTtttttagtaagttattttca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:46321475delT	ENST00000369367.3	-	11	2242	c.2009delA	c.(2008-2010)aatfs	p.N671fs	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.N356fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.N671fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.N479fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	671					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CAGAAGATTATTTTTTAGTAA	0.308																																																	0													71	76	74					12																	46321475		2203	4297	6500	SO:0001589	frameshift_variant	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2009delA	12.37:g.46321475delT	ENSP00000358374:p.Asn671fs		A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	smart_Znf_RING,pfscan_Znf_RING	p.N670fs	ENST00000369367.3	37	c.2009	CCDS8748.2	12																																																																																			SCAF11	-	NULL	ENSG00000139218		0.308	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2		0	18	0	T	NM_004719		46321475	-1	tier1		no_errors	ENST00000369367	ensembl	human	known	74_37	frame_shift_del	24.00	19	6	DEL	0.287	-	-	46321475	T	-	46321475	7	5	58	1	0	1	0	1	0	0	0	0	14222	1493	52	0	2402	0	SFRS2IP	12	46321475	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3821803	46321475	87530420	1407	15790											
C12orf68	387856	genome.wustl.edu	37	chr12	48578355	48578355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggagatgcccagcccCgccacaccctccagtcactg	10	4	10	17	1	1	2	1	0	0	2	2	4	2	2	6	1	2	0	6	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48578355C>T	ENST00000316554.3	+	1	990	c.450C>T	c.(448-450)ccC>ccT	p.P150P		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		150						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TGCCCAGCCCCGCCACACCCT	0.657																																																	0													5	6	6					12																	48578355		2069	4070	6139	SO:0001819	synonymous_variant	0																														ENST00000316554.3:c.450C>T	12.37:g.48578355C>T			Q96MK5|Q96N39	Silent	SNP	NULL	p.P150	ENST00000316554.3	37	c.450	CCDS31785.1	12																																																																																			C12orf68	-	NULL	ENSG00000177875		0.657	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1		0	29	0	C			48578355	1			no_errors	ENST00000316554	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.941	T	T	48578355	C	T	48578355	2	4	58	1	0	0	0	0	0	0	0	1	1715	639	23	1		1	C12orf68	12	48578355	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2256880	48578355	85273540	1408	15791											
C12orf68	387856	genome.wustl.edu	37	chr12	48578460	48578460	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatgcccgacattaccctGctgcaactggagggcgaggc	9	6	13	13	2	0	0	0	0	0	0	0	4	0	1	2	3	5	2	2	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48578460G>T	ENST00000316554.3	+	1	1095	c.555G>T	c.(553-555)ctG>ctT	p.L185L		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		185						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						ACATTACCCTGCTGCAACTGG	0.662																																																	0													12	11	11					12																	48578460		2189	4273	6462	SO:0001819	synonymous_variant	0																														ENST00000316554.3:c.555G>T	12.37:g.48578460G>T			Q96MK5|Q96N39	Silent	SNP	NULL	p.L185	ENST00000316554.3	37	c.555	CCDS31785.1	12																																																																																			C12orf68	-	NULL	ENSG00000177875		0.662	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	-	0	47	0	G			48578460	1	tier1	-	no_errors	ENST00000316554	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	48578460	G	T	48578460	2	4	58	1	0	0	0	0	0	0	0	1	1715	1306	46	3		3	C12orf68	12	48578460	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	105	48578460	85273435	1409	15792											
H1FNT	341567	genome.wustl.edu	37	chr12	48723224	48723224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaactgtcgggggaccatcGaggggctgctcaagctccgt	9	7	14	11	3	1	0	1	0	0	0	4	2	2	1	2	4	3	3	2	4	3	0	rs374688889		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48723224G>A	ENST00000335017.1	+	1	462	c.150G>A	c.(148-150)tcG>tcA	p.S50S		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	50					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGGGACCATCGAGGGGCTGCT	0.637																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	45	49	47		150	-1.5	0	12		47	0,8600		0,0,4300	no	coding-synonymous	H1FNT	NM_181788.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		50/256	48723224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"Histones / Replication-independent"	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.150G>A	12.37:g.48723224G>A			Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	NULL	p.S50	ENST00000335017.1	37	c.150	CCDS8762.1	12																																																																																			H1FNT	-	NULL	ENSG00000187166		0.637	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FNT	HGNC	protein_coding	OTTHUMT00000406516.1	-	0	30	0	G	NM_181788		48723224	1	tier1	-	no_errors	ENST00000335017	ensembl	human	known	74_37	silent	52.17	11	12	SNP	0.000	A	A	48723224	G	A	48723224	2	1	58	1	0	0	0	0	0	0	0	1	6948	1045	37	1		1	H1FNT	12	48723224	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	144764	48723224	85128671	1410	15793											
ADCY6	112	genome.wustl.edu	37	chr12	49168286	49168286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggacagacgttgcaGggccttagggaacagctaga	10	6	16	9	2	0	2	0	0	0	2	0	4	0	4	1	3	4	4	1	3	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49168286G>A	ENST00000307885.4	-	13	2876	c.2182C>T	c.(2182-2184)Ctg>Ttg	p.L728L	MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Silent_p.L728L|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.L728L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	728					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGACGTTGCAGGGCCTTAGGG	0.547																																																	0													95	82	87					12																	49168286		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"Adenylate cyclases"	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2182C>T	12.37:g.49168286G>A			Q9NR75|Q9UDB0	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L728	ENST00000307885.4	37	c.2182	CCDS8767.1	12																																																																																			ADCY6	-	NULL	ENSG00000174233		0.547	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1		0	30	0	G	NM_020983		49168286	-1			no_errors	ENST00000307885	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	A	A	49168286	G	A	49168286	2	1	58	1	0	0	0	0	0	0	0	1	298	991	35	3		3	ADCY6	12	49168286	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	445062	49168286	84683609	1411	15794											
DDX23	9416	genome.wustl.edu	37	chr12	49230537	49230537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaatgacgatcatcccagcGctgcttggcttccttcttac	7	12	7	15	2	2	1	1	1	1	0	4	2	4	1	3	1	3	3	3	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49230537G>T	ENST00000308025.3	-	10	1130	c.1051C>A	c.(1051-1053)Cgc>Agc	p.R351S	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	351					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCATCCCAGCGCTGCTTGGCT	0.527																																																	0													178	172	174					12																	49230537		2203	4300	6503	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1051C>A	12.37:g.49230537G>T	ENSP00000310723:p.Arg351Ser		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R351S	ENST00000308025.3	37	c.1051	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917069	0.52546	.	.	ENSG00000174243	ENST00000308025	T	0.19250	2.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	N	0.22421	0.69	0.80722	D	1	B	0.30114	0.269	B	0.19148	0.024	T	0.08576	-1.0715	10	0.08599	T	0.76	-3.1977	18.8567	0.92255	0.0:0.0:1.0:0.0	.	351	Q9BUQ8	DDX23_HUMAN	S	351	ENSP00000310723:R351S	ENSP00000310723:R351S	R	-	1	0	DDX23	47516804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.611000	0.98342	2.756000	0.94617	0.561000	0.74099	CGC	DDX23	-	NULL	ENSG00000174243		0.527	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2		0	45	0	G	NM_004818		49230537	-1			no_errors	ENST00000308025	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	49230537	G	T	49230537	3	4	58	1	0	0	0	0	1	0	0	0	4359	1087	38	2	1443	2	DDX23	12	49230537	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	62251	49230537	84621358	1412	15795											
KCNH3	23416	genome.wustl.edu	37	chr12	49943310	49943310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtaccacagccgcacgCgcgacctgcgcgactacatc	8	7	9	17	6	1	0	0	0	1	0	2	2	1	0	3	0	4	2	3	0	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49943310C>T	ENST00000257981.6	+	9	1815	c.1555C>T	c.(1555-1557)Cgc>Tgc	p.R519C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	519					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CAGCCGCACGCGCGACCTGCG	0.637																																																	0													80	68	72					12																	49943310		2203	4300	6503	SO:0001583	missense	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1555C>T	12.37:g.49943310C>T	ENSP00000257981:p.Arg519Cys		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R519C	ENST00000257981.6	37	c.1555	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589354	0.86851	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.48767	D	0.000170	D	0.97207	0.9087	M	0.77616	2.38	0.58432	D	0.99999	D	0.71674	0.998	P	0.60286	0.872	D	0.96931	0.9681	10	0.87932	D	0	.	10.9061	0.47081	0.1874:0.8126:0.0:0.0	.	519	Q9ULD8	KCNH3_HUMAN	C	519	ENSP00000257981:R519C	ENSP00000257981:R519C	R	+	1	0	KCNH3	48229577	0.899000	0.30636	0.999000	0.59377	0.977000	0.68977	2.794000	0.47853	2.719000	0.93026	0.655000	0.94253	CGC	KCNH3	-	superfamily_cNMP-bd-like	ENSG00000135519		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	-	0	88	0	C	NM_012284		49943310	1	tier1	-	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	T	T	49943310	C	T	49943310	3	4	58	1	0	0	0	0	1	0	0	0	8060	768	27	1	1589	1	KCNH3	12	49943310	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	712773	49943310	83908585	1413	15796											
SLC11A2	4891	genome.wustl.edu	37	chr12	51390736	51390736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagtacctggctctggCtgggtttcactgtaacatac	7	13	10	11	0	2	1	1	1	1	0	2	1	2	1	2	3	3	5	2	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:51390736C>T	ENST00000262051.7	-	9	782	c.695G>A	c.(694-696)aGc>aAc	p.S232N	SLC11A2_ENST00000394904.3_Missense_Mutation_p.S261N|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S232N|SLC11A2_ENST00000541174.2_Missense_Mutation_p.S232N|SLC11A2_ENST00000546743.1_Missense_Mutation_p.S153N|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S228N|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S232N|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S261N	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	232					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTGGCTCTGGCTGGGTTTCAC	0.488																																																	0													199	133	156					12																	51390736		2203	4300	6503	SO:0001583	missense	0			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"Solute carriers"	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.695G>A	12.37:g.51390736C>T	ENSP00000262051:p.Ser232Asn		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	p.S261N	ENST00000262051.7	37	c.782	CCDS53792.1	12	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888713	0.33348	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743;ENST00000546488	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.79	-5.33	0.02713	.	0.730743	0.13763	N	0.364457	T	0.37100	0.0991	N	0.03324	-0.35	0.31059	N	0.714311	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002	T	0.26503	-1.0101	10	0.15499	T	0.54	-0.1096	15.5697	0.76323	0.0:0.2273:0.0:0.7727	.	195;228;261;232;81;232	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	N	232;232;232;261;261;232;228;153;150	ENSP00000262051:S232N;ENSP00000446769:S232N;ENSP00000262052:S232N;ENSP00000378364:S261N;ENSP00000449200:S261N;ENSP00000444542:S232N;ENSP00000442810:S228N;ENSP00000446914:S153N;ENSP00000450389:S150N	ENSP00000262051:S232N	S	-	2	0	SLC11A2	49677003	0.002000	0.14202	0.824000	0.32777	0.996000	0.88848	-0.302000	0.08221	-0.988000	0.03489	-0.140000	0.14226	AGC	SLC11A2	-	pfam_NRAMP-like,tigrfam_NRAMP-like	ENSG00000110911		0.488	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	HGNC	protein_coding	OTTHUMT00000404383.1	-	0	56	0	C			51390736	-1	tier1	-	no_errors	ENST00000394904	ensembl	human	known	74_37	missense	37.78	56	34	SNP	0.973	T	T	51390736	C	T	51390736	3	4	58	1	0	0	0	0	1	0	0	0	14426	797	28	3	1104	3	SLC11A2	12	51390736	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1447426	51390736	82461159	1414	15797											
SCN8A	6334	genome.wustl.edu	37	chr12	52156424	52156424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaactgagtctagcagaCgtggaggggctttcagtgct	9	10	15	7	1	2	2	1	1	1	1	2	4	2	4	0	4	3	3	0	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52156424C>T	ENST00000354534.6	+	15	2686	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	SCN8A_ENST00000545061.1_Silent_p.D836D|SCN8A_ENST00000550891.1_Silent_p.D836D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	836					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GTCTAGCAGACGTGGAGGGGC	0.408																																																	0													125	122	123					12																	52156424		1876	4131	6007	SO:0001819	synonymous_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2508C>T	12.37:g.52156424C>T			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D836	ENST00000354534.6	37	c.2508	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.408	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	47	0	C	NM_014191		52156424	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	silent	48.65	19	18	SNP	0.931	T	T	52156424	C	T	52156424	2	4	58	1	0	0	0	0	0	0	0	1	13969	535	19	1		1	SCN8A	12	52156424	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	765688	52156424	81695471	1415	15798											
ACVR1B	91	genome.wustl.edu	37	chr12	52374794	52374794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagtggcccgaaccatcGttttacaagagattattggc	11	10	10	10	2	0	1	0	0	0	1	1	3	0	1	2	2	2	2	2	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52374794G>A	ENST00000257963.4	+	4	699	c.622G>A	c.(622-624)Gtt>Att	p.V208I	ACVR1B_ENST00000426655.2_Missense_Mutation_p.V208I|ACVR1B_ENST00000541224.1_Missense_Mutation_p.V208I|ACVR1B_ENST00000415850.2_Missense_Mutation_p.V208I|ACVR1B_ENST00000542485.1_Missense_Mutation_p.V156I	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CCGAACCATCGTTTTACAAGA	0.483											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	72	72					12																	52374794		2203	4300	6503	SO:0001583	missense	0				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.622G>A	12.37:g.52374794G>A	ENSP00000257963:p.Val208Ile	984	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V208I	ENST00000257963.4	37	c.622	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658628	0.47467	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	4.94	4.94	0.65067	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	N	0.11313	0.125	0.80722	D	1	B;B;B;B	0.31503	0.326;0.054;0.027;0.052	B;B;B;B	0.18871	0.023;0.021;0.007;0.022	D	0.83654	0.0157	10	0.32370	T	0.25	.	18.5621	0.91104	0.0:0.0:1.0:0.0	.	208;208;208;208	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	I	208;208;208;208;156	ENSP00000257963:V208I;ENSP00000442656:V208I;ENSP00000390477:V208I;ENSP00000397550:V208I;ENSP00000442885:V156I	ENSP00000257963:V208I	V	+	1	0	ACVR1B	50661061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.460000	0.83146	0.650000	0.86243	GTT	ACVR1B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135503		0.483	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	-	0	71	0	G	NM_020328		52374794	1	tier1	-	no_errors	ENST00000257963	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	A	A	52374794	G	A	52374794	3	1	58	1	0	0	0	0	1	0	0	0	221	1145	40	1	636	1	ACVR1B	12	52374794	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	218370	52374794	81477101	1416	15799											
KRT6B	3854	genome.wustl.edu	37	chr12	52841135	52841135	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccataggagtagctgcttcCtccacccaggcctaagccac	9	7	9	16	0	0	0	0	0	0	0	2	1	2	1	6	2	3	3	6	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52841135C>A	ENST00000252252.3	-	9	1581	c.1534G>T	c.(1534-1536)Gga>Tga	p.G512*		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	512	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TAGCTGCTTCCTCCACCCAGG	0.642																																																	0													55	56	56					12																	52841135		2203	4300	6503	SO:0001587	stop_gained	0			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"-", "Intermediate filaments type II, keratins (basic)"	6444	protein-coding gene	gene with protein product		148042	"keratin-like 1 (a type II keratin sequence)"	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1534G>T	12.37:g.52841135C>A	ENSP00000252252:p.Gly512*		P48669	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G512*	ENST00000252252.3	37	c.1534	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536325	0.85812	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	.	.	.	3.27	3.27	0.37495	.	0.000000	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	10.0198	0.42035	0.0:0.8939:0.0:0.1061	.	.	.	.	X	512;472	.	ENSP00000252252:G512X	G	-	1	0	KRT6B	51127402	0.022000	0.18835	0.219000	0.23793	0.653000	0.38743	1.681000	0.37618	1.846000	0.53633	0.313000	0.20887	GGA	KRT6B	-	NULL	ENSG00000185479		0.642	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	-	0	95	0	C	NM_005555		52841135	-1	tier1	-	no_errors	ENST00000252252	ensembl	human	known	74_37	nonsense	9.21	69	7	SNP	0.979	A	A	52841135	C	A	52841135	4	1	58	1	0	0	0	0	0	1	0	0	8508	690	24	3	164	3	KRT6B	12	52841135	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	466341	52841135	81010760	1417	15800											
KRT74	121391	genome.wustl.edu	37	chr12	52967393	52967393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacattgaaagaaatacgccGattccctccaaggctataga	15	8	7	11	2	0	3	0	1	0	2	2	4	2	3	3	1	1	1	3	1	6	5	rs201357829		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52967393G>A	ENST00000305620.2	-	1	216	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	KRT74_ENST00000549343.1_Missense_Mutation_p.R57W	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	57	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GAAATACGCCGATTCCCTCCA	0.627																																																	0													53	58	57					12																	52967393		2203	4300	6503	SO:0001583	missense	0			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.169C>T	12.37:g.52967393G>A	ENSP00000307240:p.Arg57Trp		B5MD61|Q86Y45	Missense_Mutation	SNP	pfam_IF,prints_Keratin_II	p.R57W	ENST00000305620.2	37	c.169	CCDS8832.1	12	.	.	.	.	.	.	.	.	.	.	G	3.980	-0.006524	0.07773	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.20738	2.05;2.05	4.41	2.54	0.30619	.	0.885835	0.09189	N	0.836238	T	0.23014	0.0556	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.15870	0.014	T	0.34054	-0.9844	10	0.87932	D	0	.	4.2146	0.10528	0.2288:0.0:0.4881:0.283	.	57	Q7RTS7	K2C74_HUMAN	W	57	ENSP00000447447:R57W;ENSP00000307240:R57W	ENSP00000307240:R57W	R	-	1	2	KRT74	51253660	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.304000	0.08199	0.550000	0.28991	-0.314000	0.08810	CGG	KRT74	-	NULL	ENSG00000170484		0.627	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	HGNC	protein_coding	OTTHUMT00000405324.1		0	56	0	G	NM_175053		52967393	-1			no_errors	ENST00000305620	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A	A	52967393	G	A	52967393	3	1	58	1	0	0	0	0	1	0	0	0	8514	1057	37	1	1456	1	KRT74	12	52967393	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	126258	52967393	80884502	1418	15801											
SP1	6667	genome.wustl.edu	37	chr12	53777115	53777115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtggggcccaatggacagGtcagttggcagactctacag	10	7	14	10	0	2	1	1	0	1	1	2	2	2	2	1	5	1	2	1	5	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:53777115G>A	ENST00000327443.4	+	3	1482	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	SP1_ENST00000426431.2_Missense_Mutation_p.V455I	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	462	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATGGACAGGTCAGTTGGCA	0.552																																																	0													150	153	152					12																	53777115		2203	4300	6503	SO:0001583	missense	0			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1384G>A	12.37:g.53777115G>A	ENSP00000329357:p.Val462Ile		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V462I	ENST00000327443.4	37	c.1384	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449526	0.12223	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.05258	3.5;3.47	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000179	T	0.03783	0.0107	N	0.12637	0.245	0.58432	D	0.999994	B	0.28324	0.207	B	0.23716	0.048	T	0.29397	-1.0013	10	0.05721	T	0.95	.	16.8884	0.86081	0.0:0.0:1.0:0.0	.	462	P08047	SP1_HUMAN	I	462;455	ENSP00000329357:V462I;ENSP00000404263:V455I	ENSP00000329357:V462I	V	+	1	0	SP1	52063382	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.318000	0.51975	2.595000	0.87683	0.467000	0.42956	GTC	SP1	-	NULL	ENSG00000185591		0.552	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	-	0	31	0	G			53777115	1	tier1	-	no_errors	ENST00000327443	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	A	A	53777115	G	A	53777115	3	1	58	1	0	0	0	0	1	0	0	0	15004	1261	44	3	1394	3	SP1	12	53777115	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	809722	53777115	80074780	1419	15802											
AMHR2	269	genome.wustl.edu	37	chr12	53825226	53825226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccttgttccaggaatcCtcagcctgcctgtacccttt	6	12	8	15	0	1	0	1	0	0	0	3	1	3	1	6	2	3	2	6	2	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:53825226C>A	ENST00000257863.4	+	11	1771	c.1691C>A	c.(1690-1692)cCt>cAt	p.P564H	AMHR2_ENST00000379791.3_Missense_Mutation_p.P469H|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	564					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCAGGAATCCTCAGCCTGCC	0.493																																																	0													132	110	117					12																	53825226		2203	4300	6503	SO:0001583	missense	0			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"Muellerian inhibiting substance type II receptor"	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1691C>A	12.37:g.53825226C>A	ENSP00000257863:p.Pro564His		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P564H	ENST00000257863.4	37	c.1691	CCDS8858.1	12	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362287	0.41902	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.95724	-3.44;-3.79	4.64	1.78	0.24846	.	0.261494	0.20471	N	0.091687	D	0.88119	0.6351	N	0.24115	0.695	0.09310	N	1	B	0.34015	0.435	B	0.30105	0.111	T	0.81333	-0.0980	10	0.87932	D	0	.	4.0834	0.09937	0.1847:0.6197:0.0:0.1956	.	564	Q16671	AMHR2_HUMAN	H	564;469	ENSP00000257863:P564H;ENSP00000369117:P469H	ENSP00000257863:P564H	P	+	2	0	AMHR2	52111493	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	1.156000	0.31712	0.279000	0.22186	-0.251000	0.11542	CCT	AMHR2	-	pirsf_Anti-muellerian_hrmn_rcpt_II	ENSG00000135409		0.493	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	-	0	34	0	C	NM_020547		53825226	1	tier1	-	no_errors	ENST00000257863	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.000	A	A	53825226	C	A	53825226	3	1	58	1	0	0	0	0	1	0	0	0	573	681	24	3	1733	3	AMHR2	12	53825226	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	48111	53825226	80026669	1420	15803											
GPR84	53831	genome.wustl.edu	37	chr12	54756738	54756738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttctggctcctttaattgGctgggctttggcagatgctt	4	17	11	9	0	2	1	0	0	2	1	3	1	3	1	1	4	1	5	1	4	1	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:54756738G>T	ENST00000551809.1	-	1	1533	c.898C>A	c.(898-900)Cca>Aca	p.P300T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.P300T			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCTTTAATTGGCTGGGCTTTG	0.507																																																	0													118	124	122					12																	54756738		2203	4300	6503	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.898C>A	12.37:g.54756738G>T	ENSP00000450310:p.Pro300Thr		B6V9G7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P300T	ENST00000551809.1	37	c.898	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	G	0.081	-1.182996	0.01620	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.61392	0.11;0.11	4.6	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.443289	0.18426	N	0.141600	T	0.41994	0.1183	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21518	-1.0243	10	0.12766	T	0.61	0.101	6.414	0.21705	0.0:0.1809:0.4444:0.3748	.	300	Q9NQS5	GPR84_HUMAN	T	300	ENSP00000267015:P300T;ENSP00000450310:P300T	ENSP00000267015:P300T	P	-	1	0	GPR84	53043005	0.011000	0.17503	0.026000	0.17262	0.446000	0.32137	1.295000	0.33377	0.434000	0.26340	0.561000	0.74099	CCA	GPR84	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000139572		0.507	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	-	0	85	0	G			54756738	-1	tier1	-	no_errors	ENST00000267015	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	T	T	54756738	G	T	54756738	3	4	58	1	0	0	0	0	1	0	0	0	6740	1203	42	3	296	3	GPR84	12	54756738	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	931512	54756738	79095157	1421	15804											
GPR84	53831	genome.wustl.edu	37	chr12	54757554	54757554	+	Frame_Shift_Del	DEL	C	C	-																															gcctgtcacagccaccaccaCcccccagctaactgcaacat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:54757554delC	ENST00000551809.1	-	1	717	c.82delG	c.(82-84)gtgfs	p.V30fs	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Del_p.V30fs			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCCACCACCACCCCCCAGCTA	0.562																																																	0										57,4207		28,1,2103	124	98	107			3.7	0.1	12		107	165,8089		81,3,4043	no	frameshift	GPR84	NM_020370.2		109,4,6146	A1A1,A1R,RR		1.999,1.3368,1.7734			54757554	222,12296	2203	4300	6503	SO:0001589	frameshift_variant	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"GPCR / Class A : Fatty acid receptors"	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.82delG	12.37:g.54757554delC	ENSP00000450310:p.Val30fs		B6V9G7	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V28fs	ENST00000551809.1	37	c.82	CCDS8878.1	12																																																																																			GPR84	-	prints_GPCR_Rhodpsn	ENSG00000139572		0.562	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1		0	60	0	C			54757554	-1	tier1		no_errors	ENST00000267015	ensembl	human	known	74_37	frame_shift_del	35.56	29	16	DEL	0.000	-	-	54757554	C	-	54757554	7	5	58	1	0	1	0	1	0	0	0	0	6740	507	18	0	1112	0	GPR84	12	54757554	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	816	54757554	79094341	1422	15805											
OR10A7	121364	genome.wustl.edu	37	chr12	55615174	55615174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgatggcttatgatcgCtttgtggccatctgtaaccc	7	14	9	11	1	1	2	0	2	1	0	3	2	2	2	3	2	1	3	3	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55615174C>T	ENST00000326258.1	+	1	366	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CTTATGATCGCTTTGTGGCCA	0.453																																																	0													151	137	141					12																	55615174		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"GPCR / Class A : Olfactory receptors"	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.366C>T	12.37:g.55615174C>T			Q6IFD5|Q96R19	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122	ENST00000326258.1	37	c.366	CCDS31815.1	12																																																																																			OR10A7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179919		0.453	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	HGNC	protein_coding	OTTHUMT00000406308.1	-	0	79	0	C			55615174	1	tier1	-	no_errors	ENST00000326258	ensembl	human	known	74_37	silent	5.95	79	5	SNP	0.992	T	T	55615174	C	T	55615174	2	4	58	1	0	0	0	0	0	0	0	1	10934	784	28	3		3	OR10A7	12	55615174	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	857620	55615174	78236721	1423	15806											
OR6C76	390326	genome.wustl.edu	37	chr12	55820521	55820521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccactggccatgggcttaCagctggatttctgtgactcc	7	11	10	13	0	1	1	0	1	1	0	2	2	2	2	3	3	2	2	3	3	1	2	rs545177147		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55820521C>T	ENST00000328314.3	+	1	484	c.484C>T	c.(484-486)Cag>Tag	p.Q162*		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATGGGCTTACAGCTGGATTT	0.443																																																	0													98	92	94					12																	55820521		2203	4299	6502	SO:0001587	stop_gained	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"GPCR / Class A : Olfactory receptors"	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.484C>T	12.37:g.55820521C>T	ENSP00000328402:p.Gln162*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q162*	ENST00000328314.3	37	c.484	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	c	13.03	2.113977	0.37339	.	.	ENSG00000185821	ENST00000328314	.	.	.	4.26	-8.52	0.00920	.	1.441540	0.04737	U	0.422082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	8.1253	0.30995	0.2389:0.1206:0.5676:0.0729	.	.	.	.	X	162	.	ENSP00000328402:Q162X	Q	+	1	0	OR6C76	54106788	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	-2.764000	0.00784	-1.549000	0.01710	-0.410000	0.06199	CAG	OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185821		0.443	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	-	0	100	0	C	NM_001005183		55820521	1	tier1	-	no_errors	ENST00000328314	ensembl	human	known	74_37	nonsense	45.00	55	45	SNP	0.000	T	T	55820521	C	T	55820521	4	4	58	1	0	0	0	0	0	1	0	0	11239	479	17	3	486	3	OR6C76	12	55820521	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	205347	55820521	78031374	1424	15807											
OR6C70	390327	genome.wustl.edu	37	chr12	55863619	55863619	+	Frame_Shift_Del	DEL	A	A	-																															tgtaacccccaagaatatgtAaaaaaacaactgagatatgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55863619delA	ENST00000327335.4	-	1	303	c.304delT	c.(304-306)tacfs	p.Y102fs	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AAGAATATGTAAAAAAACAAC	0.393																																																	0													65	66	65					12																	55863619		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.304delT	12.37:g.55863619delA	ENSP00000329153:p.Tyr102fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y102fs	ENST00000327335.4	37	c.304	CCDS31825.1	12																																																																																			OR6C70	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184954		0.393	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1		0	24	0	A			55863619	-1	tier1		no_errors	ENST00000327335	ensembl	human	known	74_37	frame_shift_del	39.53	26	17	DEL	0.001	-	-	55863619	A	-	55863619	7	5	58	1	0	1	0	1	0	0	0	0	11236	362	13	0	636	0	OR6C70	12	55863619	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	43098	55863619	77988276	1425	15808											
OR6C70	390327	genome.wustl.edu	37	chr12	55863764	55863764	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatacattggagtcttGagctgggaatccagcagaat	15	9	11	6	0	1	3	0	1	1	2	2	5	2	5	1	2	3	2	1	2	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55863764G>T	ENST00000327335.4	-	1	158	c.159C>A	c.(157-159)ctC>ctA	p.L53L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTGGAGTCTTGAGCTGGGAAT	0.383																																																	0													51	51	51					12																	55863764		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"GPCR / Class A : Olfactory receptors"	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.159C>A	12.37:g.55863764G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L53	ENST00000327335.4	37	c.159	CCDS31825.1	12																																																																																			OR6C70	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184954		0.383	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1	-	0	26	0	G			55863764	-1	tier1	-	no_errors	ENST00000327335	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.963	T	T	55863764	G	T	55863764	2	4	58	1	0	0	0	0	0	0	0	1	11236	1277	45	3		3	OR6C70	12	55863764	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	145	55863764	77988131	1426	15809											
ERBB3	2065	genome.wustl.edu	37	chr12	56495024	56495024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggagcccacggccacgCggagatagcgcctaccattc	9	4	12	16	5	0	1	0	0	0	1	1	3	0	2	5	3	4	0	5	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56495024C>T	ENST00000267101.3	+	27	3821	c.3381C>T	c.(3379-3381)cgC>cgT	p.R1127R	ERBB3_ENST00000450146.2_Silent_p.R484R|ERBB3_ENST00000549832.1_Silent_p.R247R|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Silent_p.R368R|ERBB3_ENST00000415288.2_Silent_p.R1068R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1127			R -> H (in dbSNP:rs2271188). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CACGGCCACGCGGAGATAGCG	0.592																																																	0													62	59	60					12																	56495024		2203	4300	6503	SO:0001819	synonymous_variant	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3381C>T	12.37:g.56495024C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1127	ENST00000267101.3	37	c.3381	CCDS31833.1	12																																																																																			ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.592	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	-	0	16	0	C			56495024	1	tier1	-	no_errors	ENST00000267101	ensembl	human	known	74_37	silent	50.00	10	10	SNP	0.134	T	T	56495024	C	T	56495024	2	4	58	1	0	0	0	0	0	0	0	1	5224	755	27	1		1	ERBB3	12	56495024	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	631260	56495024	77356871	1427	15810											
PA2G4	5036	genome.wustl.edu	37	chr12	56505296	56505296	+	Frame_Shift_Del	DEL	A	A	-																															ctgcaagtcgaaaaacccagAaaaagaaaaaaaagaaggtg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56505296delA	ENST00000303305.6	+	12	1521	c.1102delA	c.(1102-1104)aaafs	p.K373fs	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	373	Interaction with RNA. {ECO:0000250}.|Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAAAACCCAGAAAAAGAAAAA	0.398																																																	0													110	115	114					12																	56505296		2190	4297	6487	SO:0001589	frameshift_variant	0			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1102delA	12.37:g.56505296delA	ENSP00000302886:p.Lys373fs		O43846|Q9UM59	Frame_Shift_Del	DEL	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.K369fs	ENST00000303305.6	37	c.1102	CCDS8902.1	12																																																																																			PA2G4	-	tigrfam_Pap_1	ENSG00000170515		0.398	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1		0	40	0	A	NM_006191		56505296	1	tier1		no_errors	ENST00000303305	ensembl	human	known	74_37	frame_shift_del	37.04	17	10	DEL	1.000	-	-	56505296	A	-	56505296	7	5	58	1	0	1	0	1	0	0	0	0	11400	247	9	0	1148	0	PA2G4	12	56505296	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	10272	56505296	77346599	1428	15811											
PAN2	9924	genome.wustl.edu	37	chr12	56720180	56720180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagaatctctgcatccaCgggtggtgctcgcctacaat	8	9	11	13	3	1	1	0	0	1	1	4	1	2	1	2	2	3	3	2	2	3	1	rs140591449		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56720180C>T	ENST00000425394.2	-	8	1652	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	PAN2_ENST00000440411.3_Missense_Mutation_p.V426M|PAN2_ENST00000257931.5_Missense_Mutation_p.V426M|PAN2_ENST00000548043.1_Missense_Mutation_p.V426M	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCTGCATCCACGGGTGGTGCT	0.537																																																	0								C	MET/VAL,MET/VAL,MET/VAL	2,4404	2.1+/-5.4	0,2,2201	44	36	39		1276,1276,1276	5.1	1	12	dbSNP_134	39	0,8598		0,0,4299	no	missense,missense,missense	PAN2	NM_001127460.2,NM_001166279.1,NM_014871.4	21,21,21	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	426/1203,426/1202,426/1199	56720180	2,13002	2203	4299	6502	SO:0001583	missense	0			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"Ubiquitin-specific peptidases"	20074	protein-coding gene	gene with protein product	"PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"		"ubiquitin specific protease 52", "ubiquitin specific peptidase 52", "PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1276G>A	12.37:g.56720180C>T	ENSP00000401721:p.Val426Met			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67	p.V426M	ENST00000425394.2	37	c.1276	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	c	30	5.057829	0.93846	4.54E-4	0.0	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.13	5.13	0.70059	.	0.063342	0.64402	D	0.000008	T	0.47192	0.1432	M	0.69185	2.1	0.53688	D	0.999978	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.60286	0.872;0.817;0.748	T	0.43065	-0.9414	10	0.54805	T	0.06	-16.2671	17.7666	0.88480	0.0:1.0:0.0:0.0	.	426;426;426	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	M	426	ENSP00000401721:V426M;ENSP00000388231:V426M;ENSP00000257931:V426M;ENSP00000449861:V426M	ENSP00000257931:V426M	V	-	1	0	PAN2	55006447	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.621000	0.83083	2.562000	0.86427	0.580000	0.79431	GTG	PAN2	-	NULL	ENSG00000135473		0.537	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	-	0	97	0	C	NM_014871		56720180	-1	tier1	rs140591449	no_errors	ENST00000425394	ensembl	human	known	74_37	missense	40.30	40	27	SNP	1.000	T	T	56720180	C	T	56720180	3	4	58	1	0	0	0	0	1	0	0	0	11453	536	19	1	2408	1	PAN2	12	56720180	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	214884	56720180	77131715	1429	15812											
GLS2	27165	genome.wustl.edu	37	chr12	56881845	56881845	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgaccccagcctcctcGcccgcagtgactgccagccc	5	5	11	20	3	0	2	0	2	0	0	2	2	1	2	7	1	3	1	7	1	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56881845G>T	ENST00000311966.4	-	1	336	c.58C>A	c.(58-60)Cga>Aga	p.R20R	GLS2_ENST00000539272.1_Silent_p.R20R	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	20					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.R20G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CAGCCTCCTCGCCCGCAGTGA	0.726																																																	1	Substitution - Missense(1)	lung(1)											9	11	10					12																	56881845		2185	4266	6451	SO:0001819	synonymous_variant	0				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"Ankyrin repeat domain containing"	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.58C>A	12.37:g.56881845G>T			B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.R20	ENST00000311966.4	37	c.58	CCDS8921.1	12																																																																																			GLS2	-	NULL	ENSG00000135423		0.726	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1		0	24	0	G	NM_013267		56881845	-1			no_errors	ENST00000311966	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.898	T	T	56881845	G	T	56881845	2	4	58	1	0	0	0	0	0	0	0	1	6490	1095	38	2		2	GLS2	12	56881845	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	161665	56881845	76970050	1430	15813											
BAZ2A	11176	genome.wustl.edu	37	chr12	56992712	56992712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggatttttgatgatgcgcCggtacccactcaccaaacgt	10	11	9	11	3	1	2	1	2	0	0	1	3	1	3	3	2	3	1	3	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56992712C>T	ENST00000551812.1	-	28	5685	c.5492G>A	c.(5491-5493)cGg>cAg	p.R1831Q	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1829Q|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1801Q|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1799Q|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1831	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GATGATGCGCCGGTACCCACT	0.537																																																	0													30	31	31					12																	56992712		1911	4124	6035	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5492G>A	12.37:g.56992712C>T	ENSP00000446880:p.Arg1831Gln		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R1831Q	ENST00000551812.1	37	c.5492	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378276	0.82682	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.85	4.96	0.65561	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.79805	2.47	0.54753	D	0.999987	D;D;D;P	0.76494	0.999;0.993;0.998;0.804	D;D;D;B	0.77557	0.99;0.92;0.933;0.11	T	0.51710	-0.8671	10	0.49607	T	0.09	-12.2888	14.4384	0.67298	0.0:0.928:0.0:0.072	.	1829;1827;1831;1804	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	Q	1801;1799;1831;763;1829	ENSP00000368754:R1801Q;ENSP00000179765:R1799Q;ENSP00000446880:R1831Q;ENSP00000448760:R763Q;ENSP00000447941:R1829Q	ENSP00000179765:R1799Q	R	-	2	0	BAZ2A	55278979	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	2.872000	0.48467	1.626000	0.50381	0.655000	0.94253	CGG	BAZ2A	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000076108		0.537	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0	30	0	C	NM_013449		56992712	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	52.63	9	10	SNP	1.000	T	T	56992712	C	T	56992712	3	4	58	1	0	0	0	0	1	0	0	0	1332	652	23	1	233	1	BAZ2A	12	56992712	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	110867	56992712	76859183	1431	15814											
BAZ2A	11176	genome.wustl.edu	37	chr12	56995512	56995512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgggggttgtgatggagctgGgtctagttttcccggactgc	4	12	17	8	2	1	1	0	1	1	0	2	3	2	3	1	5	2	3	1	5	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56995512G>T	ENST00000551812.1	-	20	4088	c.3895C>A	c.(3895-3897)Cca>Aca	p.P1299T	BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1297T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1269T|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P1267T|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1299	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GATGGAGCTGGGTCTAGTTTT	0.572																																																	0													157	166	163					12																	56995512		2049	4200	6249	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3895C>A	12.37:g.56995512G>T	ENSP00000446880:p.Pro1299Thr		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P1299T	ENST00000551812.1	37	c.3895	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	2.843	-0.240133	0.05944	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.72394	-0.29;-0.27;-0.28;-0.65;-0.31	4.68	0.678	0.17969	.	0.466207	0.21200	N	0.078499	T	0.52370	0.1730	N	0.22421	0.69	0.20821	N	0.999846	B;B;B;B	0.22414	0.069;0.069;0.02;0.069	B;B;B;B	0.27715	0.05;0.082;0.016;0.05	T	0.40040	-0.9584	10	0.34782	T	0.22	.	7.6573	0.28383	0.4582:0.0:0.5418:0.0	.	1297;1299;1299;1272	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	T	1269;1267;1299;235;1297	ENSP00000368754:P1269T;ENSP00000179765:P1267T;ENSP00000446880:P1299T;ENSP00000448760:P235T;ENSP00000447941:P1297T	ENSP00000179765:P1267T	P	-	1	0	BAZ2A	55281779	0.364000	0.24997	0.289000	0.24876	0.188000	0.23474	0.612000	0.24283	0.038000	0.15604	0.655000	0.94253	CCA	BAZ2A	-	NULL	ENSG00000076108		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0	38	0	G	NM_013449		56995512	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	56.41	17	22	SNP	0.471	T	T	56995512	G	T	56995512	3	4	58	1	0	0	0	0	1	0	0	0	1332	1232	43	3	1862	3	BAZ2A	12	56995512	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2800	56995512	76856383	1432	15815											
BAZ2A	11176	genome.wustl.edu	37	chr12	57000030	57000030	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagtttgtacatgcacctaCcttggatttcttcttagctt	8	17	6	10	0	2	0	0	0	2	0	2	1	2	1	2	1	4	4	2	1	4	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57000030C>T	ENST00000551812.1	-	12	2459		c.e12+1		BAZ2A_ENST00000549884.1_Splice_Site|BAZ2A_ENST00000379441.3_Splice_Site|BAZ2A_ENST00000179765.5_Splice_Site	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATGCACCTACCTTGGATTTC	0.398																																																	0													167	147	153					12																	57000030		1886	4126	6012	SO:0001630	splice_region_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2265+1G>A	12.37:g.57000030C>T			B3KN66|O00536|O15030|Q68DI8|Q96H26	Splice_Site	SNP	-	e12+1	ENST00000551812.1	37	c.2265+1	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731528	0.69189	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000547650	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.024	0.71653	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAZ2A	55286297	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	3.541000	0.53618	2.611000	0.88343	0.655000	0.94253	.	BAZ2A	-	-	ENSG00000076108		0.398	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0	187	0	C	NM_013449	Intron	57000030	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	splice_site	32.46	129	62	SNP	1.000	T	T	57000030	C	T	57000030	5	4	58	1	0	0	0	0	0	0	1	0	1332	521	18	3	3523	3	BAZ2A	12	57000030	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4518	57000030	76851865	1433	15816											
LRP1	4035	genome.wustl.edu	37	chr12	57605984	57605984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacaagatgtacgaaggCggagagcctgatgatgtggg	12	7	15	7	2	0	4	0	2	0	2	0	6	0	4	2	3	3	1	2	3	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57605984C>T	ENST00000243077.3	+	88	13900	c.13434C>T	c.(13432-13434)ggC>ggT	p.G4478G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4478	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTACGAAGGCGGAGAGCCTG	0.617																																																	0													70	66	67					12																	57605984		2203	4300	6503	SO:0001819	synonymous_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13434C>T	12.37:g.57605984C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G4478	ENST00000243077.3	37	c.13434	CCDS8932.1	12																																																																																			LRP1	-	NULL	ENSG00000123384		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0	15	0	C	NM_002332		57605984	1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.845	T	T	57605984	C	T	57605984	2	4	58	1	0	0	0	0	0	0	0	1	8986	755	27	1		1	LRP1	12	57605984	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	605954	57605984	76245911	1434	15817											
R3HDM2	22864	genome.wustl.edu	37	chr12	57704152	57704152	+	Frame_Shift_Del	DEL	T	T	-																															tttacagattcttccaccagTtttttttctgattctttcat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57704152delT	ENST00000347140.3	-	3	450	c.60delA	c.(58-60)aaafs	p.K20fs	R3HDM2_ENST00000358907.2_Frame_Shift_Del_p.K20fs|R3HDM2_ENST00000402412.1_Frame_Shift_Del_p.K20fs|R3HDM2_ENST00000403821.2_Frame_Shift_Del_p.K20fs			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	20						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTCCACCAGTTTTTTTTCTG	0.358																																																	0													344	260	285					12																	57704152		692	1591	2283	SO:0001589	frameshift_variant	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.60delA	12.37:g.57704152delT	ENSP00000317903:p.Lys20fs		Q2M1T9|Q3ZCT5	Frame_Shift_Del	DEL	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.K20fs	ENST00000347140.3	37	c.60	CCDS8937.2	12																																																																																			R3HDM2	-	NULL	ENSG00000179912		0.358	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2		0	91	0	T	NM_014925		57704152	-1	tier1		no_errors	ENST00000347140	ensembl	human	known	74_37	frame_shift_del	42.31	60	44	DEL	0.985	-	-	57704152	T	-	57704152	7	5	58	1	0	1	0	1	0	0	0	0	12933	1722	60	0	2958	0	R3HDM2	12	57704152	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	98168	57704152	76147743	1435	15818											
MARS	4141	genome.wustl.edu	37	chr12	57894297	57894297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagctcatcaatgctgtcGagcttaaggtaagaggaggg	12	8	14	7	1	2	1	2	0	0	1	3	3	2	2	0	3	3	5	0	3	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57894297G>A	ENST00000262027.5	+	10	1419	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	MARS_ENST00000315473.5_Missense_Mutation_p.E195K|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	429					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CAATGCTGTCGAGCTTAAGGT	0.542																																																	0													99	84	89					12																	57894297		2203	4300	6503	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"Aminoacyl tRNA synthetases / Class I"	6898	protein-coding gene	gene with protein product	"methionine tRNA ligase 1, cytoplasmic"	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1285G>A	12.37:g.57894297G>A	ENSP00000262027:p.Glu429Lys		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.E429K	ENST00000262027.5	37	c.1285	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575059	0.86542	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.52057	1.14;0.68	5.35	5.35	0.76521	Aminoacyl-tRNA synthetase, class I (M) (1);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.84156	2.68	0.80722	D	1	P;D;D	0.61697	0.877;0.99;0.975	B;P;P	0.58721	0.284;0.844;0.746	T	0.74038	-0.3793	10	0.87932	D	0	-22.2553	18.2166	0.89887	0.0:0.0:1.0:0.0	.	195;302;429	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	K	429;195	ENSP00000262027:E429K;ENSP00000314653:E195K	ENSP00000262027:E429K	E	+	1	0	MARS	56180564	1.000000	0.71417	0.963000	0.40424	0.362000	0.29581	9.160000	0.94734	2.667000	0.90743	0.563000	0.77884	GAG	MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth	ENSG00000166986		0.542	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	-	0	41	0	G	NM_004990		57894297	1	tier1	-	no_errors	ENST00000262027	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	A	A	57894297	G	A	57894297	3	1	58	1	0	0	0	0	1	0	0	0	9354	1059	37	1	1323	1	MARS	12	57894297	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	190145	57894297	75957598	1436	15819											
GEFT	115557	genome.wustl.edu	37	chr12	58008378	58008378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcagagtttggggacaGctactttgaggtcagtagct	8	12	15	6	0	2	2	2	1	0	1	2	3	2	3	0	4	3	4	0	4	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:58008378G>A	ENST00000286494.4	+	8	1266	c.806G>A	c.(805-807)aGc>aAc	p.S269N	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.S308N|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	269	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TTTGGGGACAGCTACTTTGAG	0.532																																																	0													111	95	101					12																	58008378		2203	4300	6503	SO:0001583	missense	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"Rho guanine nucleotide exchange factors"	30275	protein-coding gene	gene with protein product	"RAC/CDC42 exchange factor"	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.806G>A	12.37:g.58008378G>A	ENSP00000286494:p.Ser269Asn		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S308N	ENST00000286494.4	37	c.923	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	g	17.10	3.303672	0.60305	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.68765	-0.35;-0.35	4.66	2.83	0.33086	Dbl homology (DH) domain (5);	0.318100	0.23149	N	0.051375	T	0.58119	0.2100	L	0.60455	1.87	0.44261	D	0.997117	B;B;B	0.24092	0.012;0.007;0.097	B;B;B	0.25987	0.029;0.011;0.065	T	0.54761	-0.8245	10	0.48119	T	0.1	.	5.5146	0.16900	0.1807:0.2647:0.5546:0.0	.	308;269;143	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	N	308;143;269	ENSP00000335560:S308N;ENSP00000286494:S269N	ENSP00000286494:S269N	S	+	2	0	ARHGEF25	56294645	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.492000	0.53259	0.698000	0.31739	0.563000	0.77884	AGC	ARHGEF25	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000240771		0.532	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	-	0	74	0	G	NM_133483		58008378	1	tier1	-	no_errors	ENST00000333972	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	58008378	G	A	58008378	3	1	58	1	0	0	0	0	1	0	0	0	6354	971	34	3	1058	3	GEFT	12	58008378	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	114081	58008378	75843517	1437	15820											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58025802	58025802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcgggggcgcccacggCgcaagaggtagccggaggcc	6	4	18	13	5	0	1	0	0	0	1	0	2	0	2	3	6	2	2	3	6	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:58025802C>T	ENST00000341156.4	-	2	698	c.114G>A	c.(112-114)gcG>gcA	p.A38A	B4GALNT1_ENST00000418555.2_Silent_p.A38A|B4GALNT1_ENST00000550764.1_Silent_p.A38A|B4GALNT1_ENST00000552350.1_Silent_p.A38A|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000449184.3_Silent_p.A38A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	38					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCGCCCACGGCGCAAGAGGTA	0.716																																																	0													5	6	6					12																	58025802		2106	4113	6219	SO:0001819	synonymous_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.114G>A	12.37:g.58025802C>T			B4DE26|Q8N636	Silent	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A38	ENST00000341156.4	37	c.114	CCDS8950.1	12																																																																																			B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.716	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0	42	0	C	NM_001478		58025802	-1	tier1	-	no_errors	ENST00000341156	ensembl	human	known	74_37	silent	43.33	17	13	SNP	0.367	T	T	58025802	C	T	58025802	2	4	58	1	0	0	0	0	0	0	0	1	1267	755	27	1		1	B4GALNT1	12	58025802	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	17424	58025802	75826093	1438	15821											
DPY19L2	283417	genome.wustl.edu	37	chr12	64062105	64062105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggcgagggaggccccGcgccgccccttagactggct	4	5	15	17	5	0	1	0	0	0	1	1	3	1	2	6	4	0	1	6	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:64062105G>A	ENST00000324472.4	-	1	252	c.69C>T	c.(67-69)cgC>cgT	p.R23R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	23					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGGAGGCCCCGCGCCGCCCCT	0.622																																																	0													15	21	19					12																	64062105		2179	4284	6463	SO:0001819	synonymous_variant	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.69C>T	12.37:g.64062105G>A			A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	pfam_Dpy-19	p.R23	ENST00000324472.4	37	c.69	CCDS31851.1	12																																																																																			DPY19L2	-	NULL	ENSG00000177990		0.622	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	-	0	53	0	G	NM_173812		64062105	-1	tier1	-	no_errors	ENST00000324472	ensembl	human	known	74_37	silent	55.56	16	20	SNP	0.839	A	A	64062105	G	A	64062105	2	1	58	1	0	0	0	0	0	0	0	1	4755	1074	38	1		1	DPY19L2	12	64062105	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6036303	64062105	69789790	1439	15822											
C12orf66	144577	genome.wustl.edu	37	chr12	64587767	64587767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatggtaaagtgaggttccGggcgggttaggaagtaggta	11	9	17	4	2	0	1	0	1	0	0	1	2	1	2	1	6	0	5	1	6	7	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:64587767G>A	ENST00000398055.3	-	3	1246	c.1193C>T	c.(1192-1194)cCg>cTg	p.P398L	C12orf66_ENST00000311915.8_Missense_Mutation_p.P398L|C12orf66_ENST00000544871.1_Missense_Mutation_p.P345L	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	398										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGAGGTTCCGGGCGGGTTAG	0.443																																																	0													142	133	136					12																	64587767		1890	4119	6009	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1193C>T	12.37:g.64587767G>A	ENSP00000381132:p.Pro398Leu		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.P398L	ENST00000398055.3	37	c.1193	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860158	0.32884	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.46451	0.87;0.87;0.87	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49072	-0.8977	9	.	.	.	-4.9629	20.6593	0.99626	0.0:0.0:1.0:0.0	.	345;398	F5H2Q3;Q96MD2	.;CL066_HUMAN	L	398;345;398	ENSP00000311486:P398L;ENSP00000445481:P345L;ENSP00000381132:P398L	.	P	-	2	0	C12orf66	62874034	1.000000	0.71417	0.999000	0.59377	0.391000	0.30476	9.787000	0.99055	2.885000	0.99019	0.655000	0.94253	CCG	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.443	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0	64	0	G	NM_152440		64587767	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	45.00	33	27	SNP	1.000	A	A	64587767	G	A	64587767	3	1	58	1	0	0	0	0	1	0	0	0	1714	1116	39	1	148	1	C12orf66	12	64587767	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	525662	64587767	69264128	1440	15823											
C12orf66	144577	genome.wustl.edu	37	chr12	64615932	64615932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttagccttgtcgtaaGagaagatacccaggtgagag	11	10	12	8	1	0	3	0	1	0	3	2	5	1	3	3	1	2	1	3	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:64615932G>T	ENST00000398055.3	-	1	139	c.86C>A	c.(85-87)tCt>tAt	p.S29Y	RPS11P6_ENST00000535684.1_RNA|C12orf66_ENST00000311915.8_Missense_Mutation_p.S29Y|C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000544871.1_Intron	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	29										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTTGTCGTAAGAGAAGATACC	0.652																																																	0													50	54	53					12																	64615932		1964	4154	6118	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.86C>A	12.37:g.64615932G>T	ENSP00000381132:p.Ser29Tyr		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.S29Y	ENST00000398055.3	37	c.86	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178491	0.78564	.	.	ENSG00000174206	ENST00000311915;ENST00000398055	T;T	0.33865	1.39;1.39	5.02	5.02	0.67125	.	0.055340	0.85682	D	0.000000	T	0.43166	0.1235	L	0.50333	1.59	0.58432	D	0.999996	P	0.45283	0.855	P	0.47299	0.543	T	0.17992	-1.0351	9	.	.	.	-16.851	18.5391	0.91020	0.0:0.0:1.0:0.0	.	29	Q96MD2	CL066_HUMAN	Y	29	ENSP00000311486:S29Y;ENSP00000381132:S29Y	.	S	-	2	0	C12orf66	62902199	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.360000	0.79487	2.607000	0.88179	0.561000	0.74099	TCT	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.652	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0	61	0	G	NM_152440		64615932	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	64615932	G	T	64615932	3	4	58	1	0	0	0	0	1	0	0	0	1714	942	33	3	1263	3	C12orf66	12	64615932	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	28165	64615932	69235963	1441	15824											
SLC35E3	55508	genome.wustl.edu	37	chr12	69145920	69145920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgctgtgcccttctttgagCcagtgtttggagaaggagga	7	13	14	7	0	1	2	0	1	1	1	1	5	1	4	2	3	3	2	2	3	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:69145920C>T	ENST00000398004.2	+	3	894	c.622C>T	c.(622-624)Cca>Tca	p.P208S		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	208						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CTTCTTTGAGCCAGTGTTTGG	0.423																																																	0													263	248	253					12																	69145920		1991	4171	6162	SO:0001583	missense	0			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"Solute carriers"	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.622C>T	12.37:g.69145920C>T	ENSP00000381089:p.Pro208Ser		A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT	p.P208S	ENST00000398004.2	37	c.622	CCDS41808.1	12	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776016	0.70107	.	.	ENSG00000175782	ENST00000398004;ENST00000431174	T;T	0.62364	0.03;1.23	5.59	5.59	0.84812	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.78000	0.4215	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75448	-0.3314	9	.	.	.	0.1019	19.9688	0.97277	0.0:1.0:0.0:0.0	.	208	Q7Z769	S35E3_HUMAN	S	208;18	ENSP00000381089:P208S;ENSP00000403769:P18S	.	P	+	1	0	SLC35E3	67432187	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	7.487000	0.81328	2.809000	0.96659	0.555000	0.69702	CCA	SLC35E3	-	pfam_Tpt_PEP_trans_dom,pfam_DMT	ENSG00000175782		0.423	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E3	HGNC	protein_coding	OTTHUMT00000403241.1	-	0	168	0	C	NM_018656		69145920	1	tier1	-	no_errors	ENST00000398004	ensembl	human	known	74_37	missense	31.93	112	53	SNP	1.000	T	T	69145920	C	T	69145920	3	4	58	1	0	0	0	0	1	0	0	0	14631	739	26	3	632	3	SLC35E3	12	69145920	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4529988	69145920	64705975	1442	15825											
CPSF6	11052	genome.wustl.edu	37	chr12	69650552	69650552	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctaaaagagaacttcaTggtcagaatcctgttgtaac	14	12	7	8	0	2	2	2	0	0	2	3	3	3	2	2	1	3	2	2	1	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:69650552T>A	ENST00000435070.2	+	4	560	c.450T>A	c.(448-450)caT>caA	p.H150Q	CPSF6_ENST00000266679.8_Missense_Mutation_p.H150Q|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.H150Q	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	150	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAGAACTTCATGGTCAGAATC	0.383																																																	0													127	129	128					12																	69650552		2203	4300	6503	SO:0001583	missense	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.450T>A	12.37:g.69650552T>A	ENSP00000391774:p.His150Gln		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H150Q	ENST00000435070.2	37	c.450	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155721	0.57259	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.07567	3.18;3.18;3.18	5.85	4.68	0.58851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.090958	0.85682	D	0.000000	T	0.10337	0.0253	L	0.53561	1.675	0.80722	D	1	B;B	0.27286	0.144;0.174	B;B	0.31016	0.047;0.123	T	0.10359	-1.0633	9	.	.	.	-15.1356	10.9897	0.47543	0.0:0.1309:0.0:0.8691	.	150;150	Q16630-2;Q16630	.;CPSF6_HUMAN	Q	150	ENSP00000391774:H150Q;ENSP00000391437:H150Q;ENSP00000266679:H150Q	.	H	+	3	2	CPSF6	67936819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.297000	0.43593	1.111000	0.41721	0.533000	0.62120	CAT	CPSF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000111605		0.383	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	-	0	79	0	T	NM_007007		69650552	1	tier1	-	no_errors	ENST00000266679	ensembl	human	known	74_37	missense	51.61	45	48	SNP	1.000	A	A	69650552	T	A	69650552	3	1	58	1	0	0	0	0	1	0	0	0	3836	1461	51	5	464	5	CPSF6	12	69650552	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	504632	69650552	64201343	1443	15826											
BEST3	144453	genome.wustl.edu	37	chr12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-																															ttccaggtgggtgaggccctGggggggtttcttgagggcac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:70049362delG	ENST00000330891.5	-	10	1558	c.1332delC	c.(1330-1332)cccfs	p.P444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs|BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGGCCCTGGGGGGGTTTC	0.592																																																	0													76	78	78					12																	70049362		1929	4152	6081	SO:0001589	frameshift_variant	0			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"Ion channels / Chloride channels : Calcium activated : Bestrophins"	17105	protein-coding gene	gene with protein product		607337	"vitelliform macular dystrophy 2-like 3"	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1332delC	12.37:g.70049362delG	ENSP00000332413:p.Pro444fs		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	pfam_Bestrophin/UPF0187	p.R445fs	ENST00000330891.5	37	c.1332	CCDS8992.2	12																																																																																			BEST3	-	NULL	ENSG00000127325		0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2		0	95	0	G	NM_152439		70049362	-1	tier1		no_errors	ENST00000330891	ensembl	human	known	74_37	frame_shift_del	34.67	49	26	DEL	0.001	-	-	70049362	G	-	70049362	7	5	58	1	0	1	0	1	0	0	0	0	1407	1335	47	0	678	0	BEST3	12	70049362	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	398810	70049362	63802533	1444	15827											
BBS10	79738	genome.wustl.edu	37	chr12	76741019	76741019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtcaccatctgctgggCggtacacagaaaaatctttc	11	10	9	11	1	3	1	1	0	2	1	4	1	3	1	1	2	2	3	1	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:76741019C>T	ENST00000393262.3	-	2	829	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	249					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATCTGCTGGGCGGTACACAGA	0.428									Bardet-Biedl syndrome																																								0													73	64	67					12																	76741019		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"Heat Shock Proteins / Chaperonins"	26291	protein-coding gene	gene with protein product		610148	"chromosome 12 open reading frame 58"	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.746G>A	12.37:g.76741019C>T	ENSP00000376946:p.Arg249His		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.R249H	ENST00000393262.3	37	c.746	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455267	0.63401	.	.	ENSG00000179941	ENST00000393262	T	0.78595	-1.19	5.13	5.13	0.70059	.	0.186307	0.48286	D	0.000192	T	0.68504	0.3008	N	0.22421	0.69	0.24605	N	0.99375	P	0.39157	0.662	B	0.37943	0.261	T	0.66806	-0.5830	10	0.54805	T	0.06	-0.7116	18.1122	0.89539	0.0:1.0:0.0:0.0	.	249	Q8TAM1	BBS10_HUMAN	H	249	ENSP00000376946:R249H	ENSP00000376946:R249H	R	-	2	0	BBS10	75265150	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.593000	0.67550	2.827000	0.97445	0.650000	0.86243	CGC	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000179941		0.428	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	-	0	34	0	C	NM_024685		76741019	-1	tier1	-	no_errors	ENST00000393262	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	T	T	76741019	C	T	76741019	3	4	58	1	0	0	0	0	1	0	0	0	1337	768	27	1	1429	1	BBS10	12	76741019	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6691657	76741019	57110876	1445	15828											
KITLG	4254	genome.wustl.edu	37	chr12	88900860	88900860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagaaaacaatgctggcAatgccatggctgcccagtgt	13	8	11	9	0	0	1	0	0	0	1	0	2	0	1	2	2	4	3	2	2	5	1	rs372594912		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:88900860A>G	ENST00000228280.5	-	7	841	c.659T>C	c.(658-660)tTg>tCg	p.L220S	KITLG_ENST00000347404.5_Missense_Mutation_p.L192S|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Missense_Mutation_p.L3S	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	220					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CAATGCTGGCAATGCCATGGC	0.398									Testicular Cancer, Familial Clustering of																																								0								A	SER/LEU,SER/LEU	0,4406		0,0,2203	74	80	78		659,575	5.7	1	12		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KITLG	NM_000899.4,NM_003994.5	145,145	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	220/274,192/246	88900860	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"mast cell growth factor", "stem cell factor", "steel factor", "familial progressive hyperpigmentation 2"	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.659T>C	12.37:g.88900860A>G	ENSP00000228280:p.Leu220Ser		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.L220S	ENST00000228280.5	37	c.659	CCDS31868.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.381658|4.381658	0.82792|0.82792	0.0|0.0	1.16E-4|1.16E-4	ENSG00000049130|ENSG00000049130	ENST00000537835|ENST00000378535;ENST00000228280;ENST00000347404	.|T;T	.|0.73469	.|-0.75;-0.75	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.199048	.|0.43579	.|D	.|0.000556	D|D	0.83294|0.83294	0.5223|0.5223	M|M	0.63843|0.63843	1.955|1.955	0.42975|0.42975	D|D	0.994444|0.994444	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.65874	.|0.9;0.939	D|D	0.85452|0.85452	0.1161|0.1161	6|10	0.87932|0.87932	D|D	0|0	-3.0249|-3.0249	14.491|14.491	0.67651|0.67651	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|192;220	.|P21583-2;P21583	.|.;SCF_HUMAN	R|S	24|185;220;192	.|ENSP00000228280:L220S;ENSP00000054216:L192S	ENSP00000438889:C24R|ENSP00000228280:L220S	C|L	-|-	1|2	0|0	KITLG|KITLG	87424991|87424991	0.999000|0.999000	0.42202|0.42202	0.962000|0.962000	0.40283|0.40283	0.988000|0.988000	0.76386|0.76386	5.705000|5.705000	0.68355|0.68355	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	TGC|TTG	KITLG	-	pfam_SCF,pirsf_SCF	ENSG00000049130		0.398	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	-	0	30	0	A	NM_003994		88900860	-1	tier1	-	no_errors	ENST00000228280	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.961	G	G	88900860	A	G	88900860	3	3	58	1	0	0	0	0	1	0	0	0	8357	131	5	4	174	4	KITLG	12	88900860	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	12159841	88900860	44951035	1446	15829											
ATP2B1	490	genome.wustl.edu	37	chr12	90010583	90010583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgtttcaccacctcaGgtctcacaggatcttcaatc	11	11	6	13	0	5	1	4	0	2	1	7	2	5	2	2	2	0	1	2	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:90010583G>T	ENST00000428670.3	-	12	2519	c.2063C>A	c.(2062-2064)cCt>cAt	p.P688H	ATP2B1_ENST00000359142.3_Missense_Mutation_p.P688H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.P688H|ATP2B1_ENST00000393164.2_Missense_Mutation_p.P431H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.P688H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	688					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CACCACCTCAGGTCTCACAGG	0.428																																																	0													106	101	102					12																	90010583		2203	4300	6503	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2063C>A	12.37:g.90010583G>T	ENSP00000392043:p.Pro688His		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.P688H	ENST00000428670.3	37	c.2063	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930771	0.92389	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.98769	4.325	0.80722	D	1	D;P;P	0.89917	1.0;0.809;0.796	D;P;B	0.91635	0.999;0.515;0.434	D	0.98609	1.0662	10	0.87932	D	0	-28.8317	19.8788	0.96888	0.0:0.0:1.0:0.0	.	688;688;688	P20020-3;P20020-2;P20020-6	.;.;.	H	688;688;688;688;431	ENSP00000261173:P688H;ENSP00000343599:P688H;ENSP00000352054:P688H;ENSP00000392043:P688H;ENSP00000376869:P431H	ENSP00000261173:P688H	P	-	2	0	ATP2B1	88534714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.708000	0.92522	0.650000	0.86243	CCT	ATP2B1	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000070961		0.428	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1		0	50	0	G	NM_001682		90010583	-1			no_errors	ENST00000261173	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	90010583	G	T	90010583	3	4	58	1	0	0	0	0	1	0	0	0	1140	1000	35	3	1797	3	ATP2B1	12	90010583	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1109723	90010583	43841312	1447	15830											
C12orf12	196477	genome.wustl.edu	37	chr12	91348110	91348110	+	Frame_Shift_Del	DEL	G	G	-																															cccagcgcttcttcctgcctGggggcttcacccagccaggg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:91348110delG	ENST00000358859.2	-	1	843	c.410delC	c.(409-411)ccafs	p.P137fs	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	137																	CTTCCTGCCTGGGGGCTTCAC	0.697																																																	0													14	17	16					12																	91348110		2195	4284	6479	SO:0001589	frameshift_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 12"	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.410delC	12.37:g.91348110delG	ENSP00000351727:p.Pro137fs		Q8TC47	Frame_Shift_Del	DEL	NULL	p.P137fs	ENST00000358859.2	37	c.410	CCDS9036.1	12																																																																																			CCER1	-	NULL	ENSG00000197651		0.697	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2		0	16	0	G	NM_152638		91348110	-1			no_errors	ENST00000358859	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	0.002	0	-	91348110	G	-	91348110	7	5	58	1	0	1	0	1	0	0	0	0	1681	1348	47	0	814	0	C12orf12	12	91348110	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	1337527	91348110	42503785	1448	15831											
PLXNC1	10154	genome.wustl.edu	37	chr12	94653484	94653484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatccacacccttgaaaaGcagaagaacttttctgtgaa	14	10	7	10	0	2	4	1	2	1	2	3	4	3	4	2	0	2	1	2	0	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:94653484G>T	ENST00000258526.4	+	19	3474	c.3225G>T	c.(3223-3225)aaG>aaT	p.K1075N	PLXNC1_ENST00000547057.1_Missense_Mutation_p.K122N|PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000545312.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1075					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTTGAAAAGCAGAAGAACT	0.413																																																	0													99	101	100					12																	94653484		2203	4300	6503	SO:0001583	missense	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3225G>T	12.37:g.94653484G>T	ENSP00000258526:p.Lys1075Asn		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K1075N	ENST00000258526.4	37	c.3225	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431947	0.25813	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.11821	2.74;2.74	6.03	-0.00821	0.14006	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129498	0.64402	D	0.000001	T	0.12646	0.0307	N	0.05383	-0.06	0.80722	D	1	P;D	0.63880	0.801;0.993	P;D	0.67725	0.504;0.953	T	0.15009	-1.0452	10	0.42905	T	0.14	.	6.4864	0.22091	0.4362:0.0:0.4528:0.111	.	122;1075	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1075;122	ENSP00000258526:K1075N;ENSP00000446720:K122N	ENSP00000258526:K1075N	K	+	3	2	PLXNC1	93177615	0.997000	0.39634	0.997000	0.53966	0.991000	0.79684	0.404000	0.20999	-0.042000	0.13535	-0.136000	0.14681	AAG	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000136040		0.413	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	-	0	39	0	G			94653484	1	tier1	-	no_errors	ENST00000258526	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.996	T	T	94653484	G	T	94653484	3	4	58	1	0	0	0	0	1	0	0	0	12165	962	34	3	3299	3	PLXNC1	12	94653484	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3305374	94653484	39198411	1449	15832											
TMPO	7112	genome.wustl.edu	37	chr12	98927535	98927535	+	Intron	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccatgaatctattttaaaAgtaattgaagaagaatggca	17	13	7	4	0	1	4	0	2	1	2	2	4	2	4	1	1	0	2	1	1	8	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:98927535A>T	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.K500N|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTATTTTAAAAGTAATTGAAG	0.403																																																	0													57	59	58					12																	98927535		2203	4300	6503	SO:0001627	intron_variant	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"LEM domain containing 4"	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1919A>T	12.37:g.98927535A>T			A2T926|Q14861	Missense_Mutation	SNP	pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom	p.K500N	ENST00000556029.1	37	c.1500	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048491	0.55110	.	.	ENSG00000120802	ENST00000266732	T	0.61980	0.06	5.65	3.21	0.36854	.	0.291232	0.34777	N	0.003698	T	0.59266	0.2181	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.60473	0.875	T	0.58572	-0.7613	10	0.48119	T	0.1	-14.6267	7.8859	0.29651	0.8269:0.0:0.1731:0.0	.	500	P42166	LAP2A_HUMAN	N	500	ENSP00000266732:K500N	ENSP00000266732:K500N	K	+	3	2	TMPO	97451666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.774000	0.26675	1.032000	0.39892	0.528000	0.53228	AAA	TMPO	-	pfam_LAP2alpha	ENSG00000120802		0.403	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	-	0	27	0	A	NM_003276		98927535	1	tier1	-	no_errors	ENST00000266732	ensembl	human	known	74_37	missense	46.81	25	22	SNP	1.000	T	T	98927535	A	T	98927535	1	4	58	0	1	0	0	0	0	0	0	0	16284	69	3	5		5	TMPO	12	98927535	Intron	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	4274051	98927535	34924360	1450	15833											
APAF1	317	genome.wustl.edu	37	chr12	99109237	99109237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacaatagaatcttccaGtccaggtttcagcacaagaa	16	9	7	9	0	2	2	1	0	1	2	4	2	4	2	2	1	2	3	2	1	7	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:99109237G>A	ENST00000551964.1	+	22	3727	c.2991G>A	c.(2989-2991)caG>caA	p.Q997Q	APAF1_ENST00000357310.1_Silent_p.Q954Q|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Silent_p.Q954Q|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Silent_p.Q986Q|APAF1_ENST00000359972.2_Silent_p.Q943Q|APAF1_ENST00000339433.3_Silent_p.Q954Q|APAF1_ENST00000549007.1_Silent_p.Q954Q	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	997					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAATCTTCCAGTCCAGGTTTC	0.373																																																	0													88	80	83					12																	99109237		2203	4300	6503	SO:0001819	synonymous_variant	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"WD repeat domain containing"	576	protein-coding gene	gene with protein product		602233	"apoptotic protease activating factor", "apoptotic peptidase activating factor"			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2991G>A	12.37:g.99109237G>A			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.Q997	ENST00000551964.1	37	c.2991	CCDS9069.1	12																																																																																			APAF1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom	ENSG00000120868		0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	-	0	61	0	G	NM_181861.1		99109237	1	tier1	-	no_errors	ENST00000551964	ensembl	human	known	74_37	silent	30.19	37	16	SNP	0.011	A	A	99109237	G	A	99109237	2	1	58	1	0	0	0	0	0	0	0	1	755	1020	36	3		3	APAF1	12	99109237	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	181702	99109237	34742658	1451	15834											
ACTR6	64431	genome.wustl.edu	37	chr12	100598718	100598718	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttgtttccttgtttctagGgttattcctaattgtcagtt	6	22	7	6	0	2	0	1	0	1	0	4	0	4	0	2	1	0	4	2	1	3	10			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:100598718G>A	ENST00000188312.2	+	2	834	c.69G>A	c.(67-69)tcG>tcA	p.S23S	ACTR6_ENST00000552376.1_Splice_Site_p.S23S|ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000546902.1_5'UTR|ACTR6_ENST00000550813.1_3'UTR	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	23						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TTGTTTCTAGGGTTATTCCTA	0.348																																																	0													78	80	79					12																	100598718		2202	4300	6502	SO:0001630	splice_region_variant	0			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.69-1G>A	12.37:g.100598718G>A			B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	pfam_Actin-related,smart_Actin-related	p.S23	ENST00000188312.2	37	c.69	CCDS9074.1	12																																																																																			ACTR6	-	pfam_Actin-related,smart_Actin-related	ENSG00000075089		0.348	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	-	0	77	0	G	NM_022496	Silent	100598718	1	tier1	-	no_errors	ENST00000188312	ensembl	human	known	74_37	silent	37.68	43	26	SNP	0.998	A	A	100598718	G	A	100598718	5	1	58	1	0	0	0	0	0	0	1	0	216	1246	43	3	75	3	ACTR6	12	100598718	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1489481	100598718	33253177	1452	15835											
SLC5A8	160728	genome.wustl.edu	37	chr12	101603614	101603614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaaggtgccgatgccccGtggcgtgtccatggccgcac	6	6	14	15	5	0	0	0	0	0	0	1	2	1	0	5	3	2	1	5	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:101603614G>A	ENST00000536262.2	-	1	571	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGATGCCCCGTGGCGTGTCC	0.706																																					GBM(60;420 1056 13605 22380 47675)												0													17	15	16					12																	101603614		2099	4120	6219	SO:0001583	missense	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.13C>T	12.37:g.101603614G>A	ENSP00000445340:p.Arg5Trp			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R5W	ENST00000536262.2	37	c.13	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397914	0.62177	.	.	ENSG00000256870	ENST00000536262	D	0.86164	-2.08	5.32	3.35	0.38373	.	0.264872	0.36555	N	0.002528	D	0.85071	0.5613	M	0.69358	2.11	0.09310	N	1	D	0.65815	0.995	B	0.44315	0.446	T	0.78797	-0.2063	10	0.66056	D	0.02	.	9.3355	0.38047	0.0:0.2274:0.5376:0.2351	.	5	Q8N695	SC5A8_HUMAN	W	5	ENSP00000445340:R5W	ENSP00000445340:R5W	R	-	1	2	SLC5A8	100127745	0.002000	0.14202	0.010000	0.14722	0.007000	0.05969	0.835000	0.27531	1.205000	0.43262	0.561000	0.74099	CGG	SLC5A8	-	NULL	ENSG00000256870		0.706	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	-	0	41	0	G	NM_145913		101603614	-1	tier1	-	no_errors	ENST00000536262	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.012	A	A	101603614	G	A	101603614	3	1	58	1	0	0	0	0	1	0	0	0	14716	1144	40	1	1879	1	SLC5A8	12	101603614	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1004896	101603614	32248281	1453	15836											
UTP20	27340	genome.wustl.edu	37	chr12	101739437	101739437	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcattaccatgacccaGaaatggacttctttgagaac	13	12	6	10	0	2	3	1	2	1	2	2	5	2	4	2	1	3	0	2	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:101739437G>T	ENST00000261637.4	+	37	4885	c.4711G>T	c.(4711-4713)Gaa>Taa	p.E1571*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1571					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCATGACCCAGAAATGGACTT	0.368																																																	0													102	95	98					12																	101739437		2203	4300	6503	SO:0001587	stop_gained	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4711G>T	12.37:g.101739437G>T	ENSP00000261637:p.Glu1571*		Q9H3H4	Nonsense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E1571*	ENST00000261637.4	37	c.4711	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	46	12.755164	0.99693	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.91	5.02	0.67125	.	0.094319	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.7265	14.9237	0.70859	0.0682:0.0:0.9318:0.0	.	.	.	.	X	1571	.	ENSP00000261637:E1571X	E	+	1	0	UTP20	100263568	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.717000	0.98755	1.514000	0.48869	0.650000	0.86243	GAA	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1		0	35	0	G	NM_014503		101739437	1			no_errors	ENST00000261637	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	101739437	G	T	101739437	4	4	58	1	0	0	0	0	0	1	0	0	17148	943	33	3	4857	3	UTP20	12	101739437	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	135823	101739437	32112458	1454	15837											
STAB2	55576	genome.wustl.edu	37	chr12	104015856	104015856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgtgaaacctgtgctGacgacaacttatttggaccc	10	10	9	12	1	0	2	0	2	0	0	0	4	0	3	3	1	4	1	3	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104015856G>T	ENST00000388887.2	+	5	658	c.454G>T	c.(454-456)Gac>Tac	p.D152Y		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACCTGTGCTGACGACAACTT	0.473																																																	0													261	225	237					12																	104015856		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.454G>T	12.37:g.104015856G>T	ENSP00000373539:p.Asp152Tyr			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D152Y	ENST00000388887.2	37	c.454	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	7.800	0.713461	0.15306	.	.	ENSG00000136011	ENST00000388887	D	0.84516	-1.86	5.92	-0.455	0.12193	.	0.780131	0.11657	N	0.542276	D	0.85873	0.5798	M	0.90369	3.11	0.09310	N	0.999995	B	0.22746	0.074	B	0.23150	0.044	T	0.76399	-0.2973	10	0.72032	D	0.01	.	8.0065	0.30327	0.2483:0.1949:0.5567:0.0	.	152	Q8WWQ8	STAB2_HUMAN	Y	152	ENSP00000373539:D152Y	ENSP00000373539:D152Y	D	+	1	0	STAB2	102539986	0.473000	0.25878	0.057000	0.19452	0.360000	0.29518	0.499000	0.22546	-0.654000	0.05394	-2.054000	0.00404	GAC	STAB2	-	smart_EGF_laminin	ENSG00000136011		0.473	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	74	0	G			104015856	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.556	T	T	104015856	G	T	104015856	3	4	58	1	0	0	0	0	1	0	0	0	15285	1290	45	3	472	3	STAB2	12	104015856	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2276419	104015856	29836039	1455	15838											
STAB2	55576	genome.wustl.edu	37	chr12	104048365	104048366	+	Frame_Shift_Ins	INS	-	-	A																															agcttaaactccatggaggcINSaaaaagaaggtaaaaattat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104048365_104048366insA	ENST00000388887.2	+	13	1644_1645	c.1440_1441insA	c.(1441-1443)aaafs	p.K481fs	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCATGGAGGCAAAAAGAAGGT	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1445dupA	12.37:g.104048370_104048370dupA	ENSP00000373539:p.Lys481fs			Frame_Shift_Ins	INS	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.K482fs	ENST00000388887.2	37	c.1440_1441	CCDS31888.1	12																																																																																			STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.401	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1		0	58	0	-			104048366	1	tier1		no_errors	ENST00000388887	ensembl	human	known	74_37	frame_shift_ins	43.48	26	20	INS	0.998:1.000	A	A	104048366	-	A	104048365	7	5	58	1	0	1	1	0	0	0	0	0	15285	697	25	0	1490	0	STAB2	12	104048365	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	32509	104048365	29803530	1456	15839											
STAB2	55576	genome.wustl.edu	37	chr12	104099500	104099500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaaaatgtgtgagaaccGtcattgtgagtacaataatt	15	11	9	6	1	1	2	1	2	0	1	1	3	1	2	2	0	3	1	2	0	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104099500G>T	ENST00000388887.2	+	37	4195	c.3991G>T	c.(3991-3993)Gtc>Ttc	p.V1331F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGAGAACCGTCATTGTGAG	0.408																																																	0													129	112	118					12																	104099500		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3991G>T	12.37:g.104099500G>T	ENSP00000373539:p.Val1331Phe			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.V1331F	ENST00000388887.2	37	c.3991	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988710	0.35131	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.85258	-1.96	5.76	0.825	0.18824	.	0.467832	0.22268	N	0.062319	D	0.82683	0.5090	L	0.57130	1.785	0.21064	N	0.999793	P	0.46656	0.882	P	0.45660	0.489	T	0.74702	-0.3576	10	0.59425	D	0.04	.	9.8806	0.41231	0.5947:0.0:0.4053:0.0	.	1331	Q8WWQ8	STAB2_HUMAN	F	1331;18	ENSP00000373539:V1331F	ENSP00000258495:V18F	V	+	1	0	STAB2	102623630	0.001000	0.12720	0.066000	0.19879	0.285000	0.27093	-0.119000	0.10676	-0.107000	0.12088	-0.137000	0.14449	GTC	STAB2	-	NULL	ENSG00000136011		0.408	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	69	0	G			104099500	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.105	T	T	104099500	G	T	104099500	3	4	58	1	0	0	0	0	1	0	0	0	15285	1145	40	2	4137	2	STAB2	12	104099500	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	51135	104099500	29752395	1457	15840											
STAB2	55576	genome.wustl.edu	37	chr12	104118858	104118858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatggatttacctgccgcGgcagcatttatcaggtaacg	10	10	12	9	3	1	1	1	0	0	1	1	3	1	2	2	3	4	3	2	3	3	5	rs144900279	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104118858G>T	ENST00000388887.2	+	45	4993	c.4789G>T	c.(4789-4791)Ggc>Tgc	p.G1597C		NM_017564.9	NP_060034.9			stabilin 2									p.G1597C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACCTGCCGCGGCAGCATTTA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											120	115	117					12																	104118858		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4789G>T	12.37:g.104118858G>T	ENSP00000373539:p.Gly1597Cys			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G1597C	ENST00000388887.2	37	c.4789	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230520	0.58777	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.92099	-2.97	5.38	5.38	0.77491	FAS1 domain (3);	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.80616	2.505	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	D	0.96013	0.9003	10	0.52906	T	0.07	.	17.8939	0.88880	0.0:0.0:1.0:0.0	.	1597	Q8WWQ8	STAB2_HUMAN	C	1597;284	ENSP00000373539:G1597C	ENSP00000258495:G284C	G	+	1	0	STAB2	102642988	1.000000	0.71417	0.967000	0.41034	0.318000	0.28184	6.322000	0.72886	2.515000	0.84797	0.561000	0.74099	GGC	STAB2	-	superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	61	0	G			104118858	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.25	59	4	SNP	0.999	T	T	104118858	G	T	104118858	3	4	58	1	0	0	0	0	1	0	0	0	15285	1116	39	2	4967	2	STAB2	12	104118858	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	19358	104118858	29733037	1458	15841											
TDG	6996	genome.wustl.edu	37	chr12	104378572	104378572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgcaagatgtgctcagtttCctcgagcccaagacaaagtt	11	10	10	10	1	1	2	1	0	0	2	3	3	2	2	2	0	3	4	2	0	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104378572C>T	ENST00000392872.3	+	8	1072	c.838C>T	c.(838-840)Cct>Tct	p.P280S	TDG_ENST00000544861.1_Missense_Mutation_p.P137S|TDG_ENST00000266775.9_Missense_Mutation_p.P276S|TDG_ENST00000542036.1_Missense_Mutation_p.P76S|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	280					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGCTCAGTTTCCTCGAGCCCA	0.358								Base excision repair (BER), DNA glycosylases																																									0													96	81	86					12																	104378572		2203	4300	6503	SO:0001583	missense	0			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"G/T mismatch-specific thymine DNA glycosylase"	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.838C>T	12.37:g.104378572C>T	ENSP00000376611:p.Pro280Ser		Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase	p.P280S	ENST00000392872.3	37	c.838	CCDS9095.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.433235	0.96150	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.99	5.99	0.97316	Uracil-DNA glycosylase-like (2);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.45698	1.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.57522	-0.7797	10	0.52906	T	0.07	-17.4548	20.4777	0.99188	0.0:1.0:0.0:0.0	.	76;280;280	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	S	280;276;137;76	ENSP00000376611:P280S;ENSP00000266775:P276S;ENSP00000445899:P137S;ENSP00000439054:P76S	ENSP00000266775:P276S	P	+	1	0	TDG	102902702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CCT	TDG	-	superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase	ENSG00000139372		0.358	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDG	HGNC	protein_coding	OTTHUMT00000399673.2	-	0	57	0	C			104378572	1	tier1	-	no_errors	ENST00000392872	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	T	T	104378572	C	T	104378572	3	4	58	1	0	0	0	0	1	0	0	0	15772	855	30	3	868	3	TDG	12	104378572	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	259714	104378572	29473323	1459	15842											
ALDH1L2	160428	genome.wustl.edu	37	chr12	105464438	105464438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactatcaattatatccatgGgaatgaactgagtgcagaaa	16	10	9	6	0	1	3	1	2	0	1	2	5	2	4	1	1	2	1	1	1	7	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:105464438G>A	ENST00000258494.9	-	3	478	c.338C>T	c.(337-339)cCc>cTc	p.P113L	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P113L|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	113	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATATCCATGGGAATGAACTG	0.478																																																	0													140	117	125					12																	105464438		2203	4300	6503	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.338C>T	12.37:g.105464438G>A	ENSP00000258494:p.Pro113Leu		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.P113L	ENST00000258494.9	37	c.338	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.384079	0.95967	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80653	-1.4;-1.4	5.27	5.27	0.74061	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93841	0.8030	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95723	0.8768	10	0.87932	D	0	.	19.2583	0.93955	0.0:0.0:1.0:0.0	.	113	Q3SY69	AL1L2_HUMAN	L	113	ENSP00000258494:P113L;ENSP00000389608:P113L	ENSP00000258494:P113L	P	-	2	0	ALDH1L2	103988568	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.790000	0.99075	2.640000	0.89533	0.655000	0.94253	CCC	ALDH1L2	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000136010		0.478	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	-	0	60	0	G	XM_090294		105464438	-1	tier1	-	no_errors	ENST00000258494	ensembl	human	known	74_37	missense	39.68	38	25	SNP	1.000	A	A	105464438	G	A	105464438	3	1	58	1	0	0	0	0	1	0	0	0	495	1232	43	3	2517	3	ALDH1L2	12	105464438	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1085866	105464438	28387457	1460	15843											
APPL2	55198	genome.wustl.edu	37	chr12	105589058	105589059	+	Frame_Shift_Ins	INS	-	-	T																															ctggggcatgagctttcttgINStttttttccaaaacttgtaa																								rs199942405|rs202240683	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:105589058_105589059insT	ENST00000258530.3	-	14	1446_1447	c.1221_1222insA	c.(1219-1224)aaacaafs	p.Q408fs	APPL2_ENST00000551662.1_Frame_Shift_Ins_p.Q414fs|APPL2_ENST00000539978.2_Frame_Shift_Ins_p.Q365fs|APPL2_ENST00000549573.1_5'Flank	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAGCTTTCTTGTTTTTTTCCAA	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1222dupA	12.37:g.105589065_105589065dupT	ENSP00000258530:p.Gln408fs		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Frame_Shift_Ins	INS	pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.Q413fs	ENST00000258530.3	37	c.1240_1239	CCDS9101.1	12																																																																																			APPL2	-	NULL	ENSG00000136044		0.416	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3		0	120	0	-	NM_018171		105589059	-1	tier1		no_errors	ENST00000551662	ensembl	human	known	74_37	frame_shift_ins	28.76	109	44	INS	0.817:0.836	T	T	105589059	-	T	105589058	7	5	58	1	0	1	1	0	0	0	0	0	818	1386	48	0	804	0	APPL2	12	105589058	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	124620	105589058	28262837	1461	15844											
APPL2	55198	genome.wustl.edu	37	chr12	105600899	105600899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgctttctgtactgcagCgcgttgagggcacagtagta	8	13	12	8	2	1	1	0	1	1	0	1	1	1	1	0	1	4	7	0	1	3	6	rs551931048	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:105600899C>T	ENST00000258530.3	-	8	786	c.561G>A	c.(559-561)gcG>gcA	p.A187A	APPL2_ENST00000551662.1_Silent_p.A193A|APPL2_ENST00000539978.2_Silent_p.A144A|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTACTGCAGCGCGTTGAGGG	0.577													C|||	4	0.000798722	8e-04	0	5008	,	,		18814	0		0	False		,,,				2504	0.0031																0													106	90	95					12																	105600899		2203	4300	6503	SO:0001819	synonymous_variant	0			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"Pleckstrin homology (PH) domain containing"	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.561G>A	12.37:g.105600899C>T			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.A193	ENST00000258530.3	37	c.579	CCDS9101.1	12																																																																																			APPL2	-	NULL	ENSG00000136044		0.577	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	-	0	52	0	C	NM_018171		105600899	-1	tier1	-	no_errors	ENST00000551662	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.048	T	T	105600899	C	T	105600899	2	4	58	1	0	0	0	0	0	0	0	1	818	755	27	1		1	APPL2	12	105600899	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	11841	105600899	28250996	1462	15845											
NUAK1	9891	genome.wustl.edu	37	chr12	106460763	106460763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagttttctgcagagacGcagctgcggatgcgctggcg	8	8	16	9	4	1	1	0	0	1	1	1	4	1	3	0	3	4	5	0	3	1	2	rs149780357	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:106460763G>A	ENST00000261402.2	-	7	3182	c.1803C>T	c.(1801-1803)tgC>tgT	p.C601C		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	601					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTGCAGAGACGCAGCTGCGGA	0.607													G|||	2	0.000399361	0	0	5008	,	,		16605	0		0	False		,,,				2504	0.002																0								G		0,4406		0,0,2203	32	39	37		1803	-4	0.9	12	dbSNP_134	37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NUAK1	NM_014840.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		601/662	106460763	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1803C>T	12.37:g.106460763G>A			A7MD39|Q96KA8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C601	ENST00000261402.2	37	c.1803	CCDS31892.1	12																																																																																			NUAK1	-	NULL	ENSG00000074590		0.607	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	-	0	36	0	G	NM_014840		106460763	-1	tier1	rs149780357	no_errors	ENST00000261402	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.973	A	A	106460763	G	A	106460763	2	1	58	1	0	0	0	0	0	0	0	1	10751	1079	38	1		1	NUAK1	12	106460763	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	859864	106460763	27391132	1463	15846											
POLR3B	55703	genome.wustl.edu	37	chr12	106826212	106826213	+	Frame_Shift_Ins	INS	-	-	G																															aagatgtgaatttattatgtINSggggaagagctctcttaccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:106826212_106826213insG	ENST00000228347.4	+	15	1803_1804	c.1581_1582insG	c.(1582-1584)gggfs	p.G528fs	POLR3B_ENST00000539066.1_Frame_Shift_Ins_p.G470fs	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	528					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATTTATTATGTGGGGAAGAGCT	0.406																																																	0																																										SO:0001589	frameshift_variant	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1585dupG	12.37:g.106826216_106826216dupG	ENSP00000228347:p.Gly528fs		A8K6H0|B3KV73|F5H1E6|Q9NW59	Frame_Shift_Ins	INS	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.E528fs	ENST00000228347.4	37	c.1581_1582	CCDS9105.1	12																																																																																			POLR3B	-	NULL	ENSG00000013503		0.406	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1		0	60	0	-	NM_018082		106826213	1	tier1		no_errors	ENST00000228347	ensembl	human	known	74_37	frame_shift_ins	31.75	43	20	INS	1.000:1.000	G	G	106826213	-	G	106826212	7	5	58	1	0	1	1	0	0	0	0	0	12268	1702	59	0	1639	0	POLR3B	12	106826212	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	365449	106826212	27025683	1464	15847											
TMEM119	338773	genome.wustl.edu	37	chr12	108985490	108985490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctggtgtctccactgggaCcccatgtccctggacttcct	4	12	9	16	0	2	0	0	0	2	0	5	2	4	2	5	3	0	0	5	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:108985490C>T	ENST00000392806.3	-	2	838	c.670G>A	c.(670-672)Gtc>Atc	p.V224I		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	224					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCACTGGGACCCCATGTCCC	0.687																																																	0													70	61	64					12																	108985490		2203	4300	6503	SO:0001583	missense	0			AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.670G>A	12.37:g.108985490C>T	ENSP00000376553:p.Val224Ile		Q6UXE5|Q8N2F5	Missense_Mutation	SNP	NULL	p.V224I	ENST00000392806.3	37	c.670	CCDS9119.1	12	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403757	0.25291	.	.	ENSG00000183160	ENST00000392806;ENST00000433191	T	0.51071	0.72	4.36	-1.6	0.08426	.	2.049030	0.02379	N	0.078662	T	0.35740	0.0942	L	0.36672	1.1	0.09310	N	1	B	0.24368	0.102	B	0.21917	0.037	T	0.10428	-1.0630	10	0.26408	T	0.33	-3.0212	5.3187	0.15870	0.0:0.4416:0.1455:0.4129	.	224	Q4V9L6	TM119_HUMAN	I	224;158	ENSP00000376553:V224I	ENSP00000376553:V224I	V	-	1	0	TMEM119	107509619	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.107000	0.15375	-0.140000	0.11394	0.407000	0.27541	GTC	TMEM119	-	NULL	ENSG00000183160		0.687	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM119	HGNC	protein_coding	OTTHUMT00000403900.1	-	0	57	0	C	NM_181724		108985490	-1	tier1	-	no_errors	ENST00000392806	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.000	T	T	108985490	C	T	108985490	3	4	58	1	0	0	0	0	1	0	0	0	16079	507	18	3	185	3	TMEM119	12	108985490	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2159278	108985490	24866405	1465	15848											
MVK	4598	genome.wustl.edu	37	chr12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-																															tcgtagtgtggtcggagctgCcccccggggcgggcttgggc																								rs104895310		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:110019240delC	ENST00000228510.3	+	5	488	c.412delC	c.(412-414)cccfs	p.P139fs	MVK_ENST00000539575.1_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000535044.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	139					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GTCGGAGCTGCCCCCCGGGGC	0.667																																																	0													65	66	65					12																	110019240		2203	4300	6503	SO:0001589	frameshift_variant	0			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"LH receptor mRNA-binding protein", "mevalonic aciduria"	251170	"mevalonate kinase (mevalonic aciduria)"			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.412delC	12.37:g.110019240delC	ENSP00000228510:p.Pro139fs			Frame_Shift_Del	DEL	pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	p.A141fs	ENST00000228510.3	37	c.412	CCDS9132.1	12																																																																																			MVK	-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	ENSG00000110921		0.667	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1		0	51	0	C	NM_000431		110019240	1	tier1		no_errors	ENST00000228510	ensembl	human	known	74_37	frame_shift_del	40.54	22	15	DEL	1.000	-	-	110019240	C	-	110019240	7	5	58	1	0	1	0	1	0	0	0	0	10033	739	26	0	426	0	MVK	12	110019240	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1033750	110019240	23832655	1466	15849											
IFT81	28981	genome.wustl.edu	37	chr12	110655906	110655906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtccaaatatgaaacaaGcaaaaatgtggcgtgatttg	16	10	10	5	1	0	2	0	2	0	0	1	2	1	2	1	2	2	1	1	2	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:110655906G>T	ENST00000242591.5	+	19	2412	c.1906G>T	c.(1906-1908)Gca>Tca	p.A636S	IFT81_ENST00000552912.1_Missense_Mutation_p.A636S	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	636					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TATGAAACAAGCAAAAATGTG	0.333																																																	0													109	100	103					12																	110655906		1835	4099	5934	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"Intraflagellar transport homologs"	14313	protein-coding gene	gene with protein product		605489	"carnitine deficiency-associated, expressed in ventricle 1", "intraflagellar transport 81 homolog (Chlamydomonas)"	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1906G>T	12.37:g.110655906G>T	ENSP00000242591:p.Ala636Ser		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.A636S	ENST00000242591.5	37	c.1906	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	.	15.96	2.985893	0.53934	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	5.22	0.72569	.	0.196812	0.53938	D	0.000042	T	0.32466	0.0830	L	0.36672	1.1	0.26590	N	0.97322	B	0.28400	0.21	B	0.31751	0.135	T	0.16808	-1.0390	9	0.10377	T	0.69	-2.3331	13.0191	0.58775	0.0847:0.0:0.9152:0.0	.	636	Q8WYA0	IFT81_HUMAN	S	636;636;67	.	ENSP00000242591:A636S	A	+	1	0	IFT81	109140289	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	4.117000	0.57877	2.605000	0.88082	0.579000	0.79373	GCA	IFT81	-	NULL	ENSG00000122970		0.333	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	-	0	78	0	G	NM_014055		110655906	1	tier1	-	no_errors	ENST00000242591	ensembl	human	known	74_37	missense	8.22	67	6	SNP	0.997	T	T	110655906	G	T	110655906	3	4	58	1	0	0	0	0	1	0	0	0	7592	971	34	3	2088	3	IFT81	12	110655906	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	636666	110655906	23195989	1467	15850											
HVCN1	84329	genome.wustl.edu	37	chr12	111099112	111099112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggtgtgggtggtggctgctCctcctcctcctcctcctctt	0	15	11	15	0	1	0	0	0	1	0	7	0	7	0	6	4	1	2	6	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111099112C>G	ENST00000356742.5	-	3	916	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	HVCN1_ENST00000439744.2_Missense_Mutation_p.E35Q|HVCN1_ENST00000548312.1_Missense_Mutation_p.E55Q|HVCN1_ENST00000242607.8_Missense_Mutation_p.E55Q			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGTGGCTGctcctcctcctcc	0.607																																																	0													64	64	64					12																	111099112		2203	4300	6503	SO:0001583	missense	0			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"Voltage-gated ion channels / Hydrogen voltage-gated channel"	28240	protein-coding gene	gene with protein product	"voltage sensor domain-only protein"	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.163G>C	12.37:g.111099112C>G	ENSP00000349181:p.Glu55Gln		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E55Q	ENST00000356742.5	37	c.163	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	c	6.841	0.524430	0.13066	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.46451	0.87;0.87;0.87;0.9	4.93	4.0	0.46444	.	0.358324	0.28031	N	0.016868	T	0.29620	0.0739	L	0.36672	1.1	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.07888	-1.0749	10	0.42905	T	0.14	-7.055	6.9002	0.24279	0.0:0.6777:0.1969:0.1254	.	55;55	Q96D96;Q96D96-3	HVCN1_HUMAN;.	Q	55;55;55;35;55	ENSP00000449601:E55Q;ENSP00000242607:E55Q;ENSP00000349181:E55Q;ENSP00000412052:E35Q	ENSP00000242607:E55Q	E	-	1	0	HVCN1	109583495	0.892000	0.30473	0.776000	0.31678	0.113000	0.19764	0.092000	0.15066	2.565000	0.86533	0.457000	0.33378	GAG	HVCN1	-	NULL	ENSG00000122986		0.607	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	HGNC	protein_coding	OTTHUMT00000404653.1	-	0	148	0	C	NM_032369		111099112	-1	tier1	-	no_errors	ENST00000242607	ensembl	human	known	74_37	missense	31.91	96	45	SNP	0.018	G	G	111099112	C	G	111099112	3	3	58	1	0	0	0	0	1	0	0	0	7489	864	30	5	678	5	HVCN1	12	111099112	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	443206	111099112	22752783	1468	15851											
CCDC63	160762	genome.wustl.edu	37	chr12	111321964	111321964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgaagattttctggcCaaggaggagaagaattttgc	12	12	11	6	0	2	4	1	1	1	3	2	6	2	5	1	3	1	0	1	3	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111321964C>T	ENST00000308208.5	+	8	1226	c.984C>T	c.(982-984)gcC>gcT	p.A328A	CCDC63_ENST00000552694.1_Silent_p.A249A|CCDC63_ENST00000545036.1_Silent_p.A288A	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	328										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ATTTTCTGGCCAAGGAGGAGA	0.532																																																	0													126	123	124					12																	111321964		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"outer row dynein assembly 5 homolog (Chlamydomonas)"						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.984C>T	12.37:g.111321964C>T			B4DY03|Q0P603|Q6P2E1	Silent	SNP	NULL	p.A328	ENST00000308208.5	37	c.984	CCDS9151.1	12																																																																																			CCDC63	-	NULL	ENSG00000173093		0.532	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	-	0	75	0	C	NM_152591		111321964	1	tier1	-	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	42.05	51	37	SNP	1.000	T	T	111321964	C	T	111321964	2	4	58	1	0	0	0	0	0	0	0	1	2841	581	21	3		3	CCDC63	12	111321964	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	222852	111321964	22529931	1469	15852											
CUX2	23316	genome.wustl.edu	37	chr12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatcaccccgagaatcCgcacgcctgagacaggctca	11	4	10	16	3	2	2	2	1	0	2	3	4	3	2	4	1	1	4	4	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	641					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCGAGAATCCGCACGCCTGA	0.617																																																	0													59	67	65					12																	111749924		2089	4212	6301	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1921C>T	12.37:g.111749924C>T	ENSP00000261726:p.Arg641Cys		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R641C	ENST00000261726.6	37	c.1921	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990142	0.54041	.	.	ENSG00000111249	ENST00000261726	T	0.62498	0.02	4.58	4.58	0.56647	.	0.061324	0.64402	D	0.000004	T	0.77837	0.4190	M	0.79926	2.475	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.80759	-0.1239	10	0.87932	D	0	-11.4411	11.0216	0.47722	0.3279:0.6721:0.0:0.0	.	641	O14529	CUX2_HUMAN	C	641	ENSP00000261726:R641C	ENSP00000261726:R641C	R	+	1	0	CUX2	110234307	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.751000	0.55165	2.115000	0.64714	0.281000	0.19383	CGC	CUX2	-	NULL	ENSG00000111249		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	25	0	C	NM_015267		111749924	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T	T	111749924	C	T	111749924	3	4	58	1	0	0	0	0	1	0	0	0	4074	652	23	1	1983	1	CUX2	12	111749924	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	427960	111749924	22101971	1470	15853											
ATXN2	6311	genome.wustl.edu	37	chr12	111926574	111926574	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatagattcagaagtagaaCttggctgtaactaaataaag	17	10	8	6	0	1	3	1	0	0	3	1	3	1	3	1	1	2	3	1	1	9	7	rs574747776		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111926574C>G	ENST00000377617.3	-	15	2587	c.2426G>C	c.(2425-2427)aGt>aCt	p.S809T	AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000550104.1_Missense_Mutation_p.S809T|ATXN2_ENST00000389153.4_Missense_Mutation_p.S544T|ATXN2_ENST00000542287.2_Missense_Mutation_p.S544T|ATXN2_ENST00000535949.1_Missense_Mutation_p.S520T|ATXN2_ENST00000608853.1_Missense_Mutation_p.S649T	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	809					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGAAGTAGAACTTGGCTGTAA	0.289																																																	0													32	31	31					12																	111926574		2202	4299	6501	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2426G>C	12.37:g.111926574C>G	ENSP00000366843:p.Ser809Thr		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S809T	ENST00000377617.3	37	c.2426	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730043	0.89390	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467;ENST00000546483	T;T	0.77489	-0.87;-1.1	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	M	0.63843	1.955	0.80722	D	1	D;P;D	0.67145	0.982;0.956;0.996	D;D;D	0.77557	0.952;0.931;0.99	D	0.84036	0.0362	10	0.33940	T	0.23	-11.7455	20.073	0.97731	0.0:1.0:0.0:0.0	.	809;520;544	Q99700;Q24JQ7;F8VQP2	ATX2_HUMAN;.;.	T	544;809;809;544;520;133;88	ENSP00000366843:S809T;ENSP00000446576:S809T	ENSP00000366843:S809T	S	-	2	0	ATXN2	110410957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.750000	0.94351	0.655000	0.94253	AGT	ATXN2	-	NULL	ENSG00000204842		0.289	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	-	0	60	0	C	NM_002973		111926574	-1	tier1	-	no_errors	ENST00000377617	ensembl	human	known	74_37	missense	38.27	50	31	SNP	1.000	G	G	111926574	C	G	111926574	3	3	58	1	0	0	0	0	1	0	0	0	1212	565	20	5	1559	5	ATXN2	12	111926574	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	176650	111926574	21925321	1471	15854											
ERP29	10961	genome.wustl.edu	37	chr12	112457621	112457623	+	In_Frame_Del	DEL	AGC	AGC	-																															ccagtacccctacggtgagaAgcaggatgagttcaagcgtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:112457621_112457623delAGC	ENST00000261735.3	+	2	356_358	c.206_208delAGC	c.(205-210)aagcag>aag	p.Q70del	ERP29_ENST00000455836.1_Intron|ERP29_ENST00000546477.1_5'UTR	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	70					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TACGGTGAGAAGCAGGATGAGTT	0.547																																																	0																																										SO:0001651	inframe_deletion	0			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"Protein disulfide isomerases"	13799	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 9"	602287	"chromosome 12 open reading frame 8"	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.206_208delAGC	12.37:g.112457621_112457623delAGC	ENSP00000261735:p.Gln70del		C9J183|Q3MJC3|Q6FHT4	In_Frame_Del	DEL	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.Q70in_frame_del	ENST00000261735.3	37	c.206_208	CCDS9158.1	12																																																																																			ERP29	-	pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	ENSG00000089248		0.547	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1		0	64	0	AGC			112457623	1	tier1		no_errors	ENST00000261735	ensembl	human	known	74_37	in_frame_del	44.62	36	29	DEL	1.000:1.000:1.000	-	-	112457623	AGC	-	112457621	7	5	58	1	0	1	0	1	0	0	0	0	5258	72	3	0	212	0	ERP29	12	112457621	In_Frame_Del	DEL	AGC	TCGA-L5-A4OI-01A-11D-A27G-09	531047	112457621	21394274	1472	15855											
NAA25	80018	genome.wustl.edu	37	chr12	112486138	112486138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaacagcatccgttcagtaCggacttgtgcaaaatgaaga	14	9	9	9	2	1	2	1	1	0	1	2	3	2	3	1	1	4	4	1	1	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:112486138C>T	ENST00000261745.4	-	16	2086	c.1838G>A	c.(1837-1839)cGt>cAt	p.R613H		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	613						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCGTTCAGTACGGACTTGTGC	0.368																																																	0													113	104	107					12																	112486138		2203	4300	6503	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1838G>A	12.37:g.112486138C>T	ENSP00000261745:p.Arg613His		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.R613H	ENST00000261745.4	37	c.1838	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782232	0.90282	.	.	ENSG00000111300	ENST00000261745	T	0.46063	0.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.945	T	0.54853	-0.8231	10	0.31617	T	0.26	-9.7102	19.5841	0.95484	0.0:1.0:0.0:0.0	.	613;613	A8K8X0;Q14CX7	.;NAA25_HUMAN	H	613	ENSP00000261745:R613H	ENSP00000261745:R613H	R	-	2	0	NAA25	110970521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.604000	0.88044	0.655000	0.94253	CGT	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat	ENSG00000111300		0.368	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	-	0	38	0	C	NM_024953		112486138	-1	tier1	-	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	47.83	24	22	SNP	1.000	T	T	112486138	C	T	112486138	3	4	58	1	0	0	0	0	1	0	0	0	10159	536	19	1	1116	1	NAA25	12	112486138	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	28517	112486138	21365757	1473	15856											
RPH3A	22895	genome.wustl.edu	37	chr12	113285596	113285596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagaaatcatcaacaGggtgattgctcgagctgaga	15	7	13	6	1	2	4	2	2	0	3	3	7	2	4	0	2	3	2	0	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:113285596G>T	ENST00000389385.4	+	5	676	c.179G>T	c.(178-180)aGg>aTg	p.R60M	RPH3A_ENST00000420983.2_Missense_Mutation_p.R60M|RPH3A_ENST00000415485.3_Missense_Mutation_p.R60M|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Missense_Mutation_p.R60M|RPH3A_ENST00000551052.1_Missense_Mutation_p.R56M|RPH3A_ENST00000548866.1_Intron	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	60	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATCATCAACAGGGTGATTGCT	0.572																																																	0													94	79	84					12																	113285596		2203	4300	6503	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.179G>T	12.37:g.113285596G>T	ENSP00000374036:p.Arg60Met		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.R60M	ENST00000389385.4	37	c.179	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827209	0.71143	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.07	4.13	0.48395	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.086699	0.44097	D	0.000492	T	0.73552	0.3601	M	0.62723	1.935	0.38420	D	0.946163	P;P;P	0.49783	0.928;0.928;0.912	B;B;B	0.41666	0.363;0.363;0.248	T	0.75548	-0.3279	9	.	.	.	.	11.8234	0.52252	0.0932:0.0:0.9068:0.0	.	60;60;56	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	M	60;60;60;60;60;60;60;60;60;60;60;60;56;60;60;60	ENSP00000446570:R60M;ENSP00000449705:R60M;ENSP00000440384:R60M;ENSP00000446780:R60M;ENSP00000447306:R60M;ENSP00000446556:R60M;ENSP00000450382:R60M;ENSP00000449613:R60M;ENSP00000447505:R60M;ENSP00000449650:R60M;ENSP00000374036:R60M;ENSP00000447083:R60M;ENSP00000448297:R56M;ENSP00000405357:R60M;ENSP00000450216:R60M;ENSP00000408889:R60M	.	R	+	2	0	RPH3A	111769979	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	3.988000	0.56951	1.153000	0.42468	-0.345000	0.07892	AGG	RPH3A	-	pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000089169		0.572	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1		0	38	0	G	NM_014954		113285596	1			no_errors	ENST00000389385	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.937	T	T	113285596	G	T	113285596	3	4	58	1	0	0	0	0	1	0	0	0	13596	1000	35	3	189	3	RPH3A	12	113285596	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	799458	113285596	20566299	1474	15857											
RPH3A	22895	genome.wustl.edu	37	chr12	113319586	113319586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctcttgcagggcctgaagCccatggattcaaacggcttg	8	11	11	11	1	2	1	1	1	1	0	3	2	2	2	2	3	3	2	2	3	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:113319586C>T	ENST00000389385.4	+	15	1758	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	RPH3A_ENST00000420983.2_Missense_Mutation_p.P421S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.P421S|RPH3A_ENST00000447659.2_Missense_Mutation_p.P372S|RPH3A_ENST00000543106.2_Missense_Mutation_p.P421S|RPH3A_ENST00000551052.1_Missense_Mutation_p.P417S|RPH3A_ENST00000548866.1_Missense_Mutation_p.P372S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	421	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGCCTGAAGCCCATGGATTC	0.602																																																	0													108	100	103					12																	113319586		2203	4300	6503	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1261C>T	12.37:g.113319586C>T	ENSP00000374036:p.Pro421Ser		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P421S	ENST00000389385.4	37	c.1261	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880423	0.91740	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.34	5.34	0.76211	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000009	T	0.36386	0.0965	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73380	0.967;0.98;0.98;0.975	T	0.01375	-1.1371	10	0.32370	T	0.25	.	17.8422	0.88718	0.0:1.0:0.0:0.0	.	372;421;421;417	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	421;421;372;417;421;372;421;73;73	ENSP00000440384:P421S;ENSP00000374036:P421S;ENSP00000413254:P372S;ENSP00000448297:P417S;ENSP00000405357:P421S;ENSP00000450347:P372S;ENSP00000408889:P421S	ENSP00000374036:P421S	P	+	1	0	RPH3A	111803969	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.463000	0.80869	2.507000	0.84556	0.561000	0.74099	CCC	RPH3A	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000089169		0.602	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	-	0	19	0	C	NM_014954		113319586	1	tier1	-	no_errors	ENST00000389385	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	T	T	113319586	C	T	113319586	3	4	58	1	0	0	0	0	1	0	0	0	13596	739	26	3	1311	3	RPH3A	12	113319586	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	33990	113319586	20532309	1475	15858											
TPCN1	53373	genome.wustl.edu	37	chr12	113706674	113706674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtattgcggtggcgtccGgcggtaaggcccgggtgggg	3	8	21	9	6	0	0	0	0	0	0	2	0	1	0	2	9	1	2	2	9	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:113706674G>A	ENST00000335509.6	+	6	970	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	TPCN1_ENST00000541517.1_Missense_Mutation_p.R291Q|TPCN1_ENST00000550785.1_Missense_Mutation_p.R291Q|TPCN1_ENST00000392569.4_Missense_Mutation_p.R151Q	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	219					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.R219Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGTGGCGTCCGGCGGTAAGGC	0.627																																																	1	Substitution - Missense(1)	lung(1)											112	87	96					12																	113706674		2203	4300	6503	SO:0001583	missense	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"Voltage-gated ion channels / Two-pore channels"	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.656G>A	12.37:g.113706674G>A	ENSP00000335300:p.Arg219Gln		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R291Q	ENST00000335509.6	37	c.872	CCDS31908.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.058864	0.97246	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85859	2.78	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.974;0.998	D;P;P	0.80764	0.994;0.543;0.799	D	0.99937	1.1369	10	0.19147	T	0.46	-28.9932	18.2536	0.90012	0.0:0.0:1.0:0.0	.	219;291;219	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	Q	219;291;291;151	ENSP00000335300:R219Q;ENSP00000448083:R291Q;ENSP00000438125:R291Q;ENSP00000376350:R151Q	ENSP00000335300:R219Q	R	+	2	0	TPCN1	112191057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.179000	0.94861	2.533000	0.85409	0.655000	0.94253	CGG	TPCN1	-	pfam_Ion_trans_dom	ENSG00000186815		0.627	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	-	0	88	0	G	NM_017901		113706674	1	tier1	-	no_errors	ENST00000541517	ensembl	human	known	74_37	missense	25.00	60	20	SNP	1.000	A	A	113706674	G	A	113706674	3	1	58	1	0	0	0	0	1	0	0	0	16443	1116	39	1	894	1	TPCN1	12	113706674	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	387088	113706674	20145221	1476	15859											
TBX5	6910	genome.wustl.edu	37	chr12	114793595	114793595	+	Frame_Shift_Del	DEL	C	C	-																															gccagccgagggaccaggggCcccgaggtgaagtgagcgga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:114793595delC	ENST00000310346.4	-	9	1965	c.1299delG	c.(1297-1299)gggfs	p.G433fs	TBX5_ENST00000405440.2_Frame_Shift_Del_p.G433fs|TBX5_ENST00000349716.5_Frame_Shift_Del_p.G383fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	433				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGACCAGGGGCCCCGAGGTGA	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)												0													24	25	25					12																	114793595		2203	4299	6502	SO:0001589	frameshift_variant	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1299delG	12.37:g.114793595delC	ENSP00000309913:p.Gly433fs		A6ND77|O15301|Q96TB0|Q9Y4I2	Frame_Shift_Del	DEL	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L435fs	ENST00000310346.4	37	c.1299	CCDS9173.1	12																																																																																			TBX5	-	NULL	ENSG00000089225		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1		0	149	0	C	NM_080717		114793595	-1	tier1		no_errors	ENST00000310346	ensembl	human	known	74_37	frame_shift_del	33.06	83	41	DEL	1.000	-	-	114793595	C	-	114793595	7	5	58	1	0	1	0	1	0	0	0	0	15708	726	26	0	261	0	TBX5	12	114793595	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1086921	114793595	19058300	1477	15860											
TBX3	6926	genome.wustl.edu	37	chr12	115117754	115117754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcccctgccacgtagcGtgatcacttgggaaggccaa	10	9	10	12	2	1	1	1	1	0	0	2	2	2	2	4	2	2	1	4	2	4	4	rs537346634		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:115117754G>T	ENST00000257566.3	-	3	1070	c.681C>A	c.(679-681)caC>caA	p.H227Q	TBX3_ENST00000349155.2_Intron	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	227					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCCACGTAGCGTGATCACTTG	0.443																																																	0													94	81	85					12																	115117754		2203	4300	6503	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.681C>A	12.37:g.115117754G>T	ENSP00000257566:p.His227Gln		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.H227Q	ENST00000257566.3	37	c.681	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610119	0.28712	.	.	ENSG00000135111	ENST00000257566;ENST00000361100	D	0.87334	-2.24	5.27	2.14	0.27477	p53-like transcription factor, DNA-binding (1);	0.635804	0.15428	N	0.262853	T	0.75510	0.3859	N	0.19112	0.55	0.26335	N	0.977456	B	0.13145	0.007	B	0.14023	0.01	T	0.62393	-0.6864	10	0.32370	T	0.25	.	8.2035	0.31438	0.0:0.2694:0.4561:0.2744	.	227	O15119	TBX3_HUMAN	Q	227	ENSP00000257566:H227Q	ENSP00000257566:H227Q	H	-	3	2	TBX3	113602137	0.964000	0.33143	1.000000	0.80357	0.997000	0.91878	0.554000	0.23407	0.668000	0.31126	0.655000	0.94253	CAC	TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.443	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	-	0	54	0	G	NM_016569, NM_005996		115117754	-1	tier1	-	no_errors	ENST00000257566	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.992	T	T	115117754	G	T	115117754	3	4	58	1	0	0	0	0	1	0	0	0	15706	1136	40	2	1574	2	TBX3	12	115117754	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	324159	115117754	18734141	1478	15861											
MED13L	23389	genome.wustl.edu	37	chr12	116412999	116412999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagctccccatggccaagaCgcccaagtcgcccgattaca	11	6	8	16	3	0	1	0	0	0	1	2	2	1	1	5	1	2	1	5	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:116412999C>T	ENST00000281928.3	-	25	5914	c.5708G>A	c.(5707-5709)cGt>cAt	p.R1903H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1903						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATGGCCAAGACGCCCAAGTCG	0.453																																																	0													66	64	65					12																	116412999		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5708G>A	12.37:g.116412999C>T	ENSP00000281928:p.Arg1903His		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.R1903H	ENST00000281928.3	37	c.5708	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.622977	0.96660	.	.	ENSG00000123066	ENST00000281928	D	0.83914	-1.78	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.92782	0.7705	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92896	0.6335	10	0.72032	D	0.01	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1903	Q71F56	MD13L_HUMAN	H	1903	ENSP00000281928:R1903H	ENSP00000281928:R1903H	R	-	2	0	MED13L	114897382	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.438000	0.80431	2.894000	0.99253	0.591000	0.81541	CGT	MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	38	0	C			116412999	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	54.35	21	25	SNP	1.000	T	T	116412999	C	T	116412999	3	4	58	1	0	0	0	0	1	0	0	0	9469	536	19	1	952	1	MED13L	12	116412999	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1295245	116412999	17438896	1479	15862											
KSR2	283455	genome.wustl.edu	37	chr12	117964887	117964887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattctcacctccgacgttgGctccacttcaatttgaagta	9	13	7	12	2	2	1	2	1	1	0	5	3	4	1	3	1	0	3	3	1	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:117964887G>T	ENST00000339824.5	-	13	2567	c.1840C>A	c.(1840-1842)Cca>Aca	p.P614T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.P585T|KSR2_ENST00000302438.5_Missense_Mutation_p.P311T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	614					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGACGTTGGCTCCACTTCA	0.453																																																	0													165	163	163					12																	117964887		1947	4139	6086	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1840C>A	12.37:g.117964887G>T	ENSP00000339952:p.Pro614Thr		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P614T	ENST00000339824.5	37	c.1840		12	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495631	0.64186	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.85773	-1.17;-1.17;-2.03	5.6	5.6	0.85130	.	0.289069	0.39544	N	0.001334	D	0.83385	0.5243	L	0.56769	1.78	0.58432	D	0.999997	D	0.54772	0.968	P	0.45310	0.476	T	0.80924	-0.1165	10	0.02654	T	1	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	614	Q6VAB6	KSR2_HUMAN	T	585;614;311;286	ENSP00000389715:P585T;ENSP00000339952:P614T;ENSP00000305466:P311T	ENSP00000305466:P311T	P	-	1	0	KSR2	116449270	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.962000	0.93254	2.630000	0.89119	0.655000	0.94253	CCA	KSR2	-	NULL	ENSG00000171435		0.453	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0	51	0	G	NM_173598		117964887	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	117964887	G	T	117964887	3	4	58	1	0	0	0	0	1	0	0	0	8610	1203	42	3	1044	3	KSR2	12	117964887	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1551888	117964887	15887008	1480	15863											
VSIG10	54621	genome.wustl.edu	37	chr12	118517261	118517261	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagcatttccacccccAgctttgacttccccacgatt	7	11	5	18	2	1	1	1	1	0	0	3	2	3	1	5	0	2	3	5	0	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:118517261A>C	ENST00000359236.5	-	4	1091	c.815T>G	c.(814-816)cTg>cGg	p.L272R	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	272	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCCACCCCCAGCTTTGACTT	0.557																																																	0													111	116	114					12																	118517261		2051	4208	6259	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.815T>G	12.37:g.118517261A>C	ENSP00000352172:p.Leu272Arg		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L272R	ENST00000359236.5	37	c.815	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564821	0.65651	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.15139	2.45;2.45	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36444	N	0.002592	T	0.20007	0.0481	M	0.78637	2.42	0.32534	N	0.5346	P	0.36789	0.57	B	0.35607	0.206	T	0.18147	-1.0346	10	0.14252	T	0.57	-20.773	10.3487	0.43922	0.9277:0.0:0.0722:0.0	.	272	Q8N0Z9	VSI10_HUMAN	R	272;171	ENSP00000352172:L272R;ENSP00000442861:L171R	ENSP00000352172:L272R	L	-	2	0	VSIG10	117001644	1.000000	0.71417	0.947000	0.38551	0.947000	0.59692	3.331000	0.52075	2.367000	0.80283	0.529000	0.55759	CTG	VSIG10	-	pfscan_Ig-like_dom	ENSG00000176834		0.557	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	-	0	41	0	A	NM_019086		118517261	-1	tier1	-	no_errors	ENST00000359236	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.892	C	C	118517261	A	C	118517261	3	2	58	1	0	0	0	0	1	0	0	0	17272	188	7	4	831	4	VSIG10	12	118517261	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	552374	118517261	15334634	1481	15864											
C12orf43	64897	genome.wustl.edu	37	chr12	121442025	121442025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcgctggccttctttgcCtttttcttctttttggtccc	0	21	7	13	1	4	0	0	0	4	0	6	0	5	0	3	2	1	1	3	2	0	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:121442025C>A	ENST00000288757.3	-	6	742	c.720G>T	c.(718-720)aaG>aaT	p.K240N	C12orf43_ENST00000366211.2_Missense_Mutation_p.K199N|C12orf43_ENST00000445832.3_Missense_Mutation_p.K210N|C12orf43_ENST00000537817.1_Missense_Mutation_p.K241N|C12orf43_ENST00000539736.1_Missense_Mutation_p.K230N|C12orf43_ENST00000536407.2_3'UTR|RP11-216P16.2_ENST00000606238.1_RNA	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	240	Lys-rich.							p.K240K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTTCTTTGCCTTTTTCTTCT	0.572																																																	1	Substitution - coding silent(1)	large_intestine(1)											258	252	254					12																	121442025		2203	4300	6503	SO:0001583	missense	0			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.720G>T	12.37:g.121442025C>A	ENSP00000288757:p.Lys240Asn		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.K240N	ENST00000288757.3	37	c.720	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.37|11.37	1.620113|1.620113	0.28801|0.28801	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000536407;ENST00000366211;ENST00000539736;ENST00000538296|ENST00000546272	T;T;T;T;T|.	0.57595|.	0.43;0.41;0.43;0.39;0.59|.	5.48|5.48	-1.36|-1.36	0.09085|0.09085	.|.	0.318671|.	0.35870|.	N|.	0.002925|.	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.46157|0.46157	1.445|1.445	0.18873|0.18873	N|N	0.999989|0.999989	D;P;D;D;D|.	0.56521|.	0.976;0.933;0.976;0.976;0.976|.	P;P;P;P;P|.	0.50049|.	0.629;0.629;0.629;0.629;0.629|.	T|T	0.31943|0.31943	-0.9925|-0.9925	10|5	0.56958|.	D|.	0.05|.	-31.1475|-31.1475	1.0439|1.0439	0.01565|0.01565	0.1525:0.3225:0.1485:0.3765|0.1525:0.3225:0.1485:0.3765	.|.	230;199;241;230;240|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	N|M	210;240;241;138;199;230;178|194	ENSP00000409788:K210N;ENSP00000288757:K240N;ENSP00000442224:K241N;ENSP00000437803:K230N;ENSP00000442041:K178N|.	ENSP00000288757:K240N|.	K|R	-|-	3|2	2|0	C12orf43|C12orf43	119926408|119926408	0.112000|0.112000	0.22096|0.22096	0.530000|0.530000	0.27963|0.27963	0.251000|0.251000	0.25915|0.25915	-0.080000|-0.080000	0.11339|0.11339	0.254000|0.254000	0.21573|0.21573	0.655000|0.655000	0.94253|0.94253	AAG|AGG	C12orf43	-	NULL	ENSG00000157895		0.572	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		-	0	154	0	C	NM_022895		121442025	-1	tier1	-	no_errors	ENST00000288757	ensembl	human	known	74_37	missense	31.30	90	41	SNP	0.053	A	A	121442025	C	A	121442025	3	1	58	1	0	0	0	0	1	0	0	0	1694	680	24	3	72	3	C12orf43	12	121442025	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2924764	121442025	12409870	1482	15865											
CAMKK2	10645	genome.wustl.edu	37	chr12	121712281	121712281	+	Frame_Shift_Del	DEL	G	G	-																															cctgccccccagctcatcctGgggggcggcccggttgctgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:121712281delG	ENST00000324774.5	-	2	877	c.49delC	c.(49-51)cagfs	p.Q17fs	CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000538733.1_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000337174.3_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000412367.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.Q17fs	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	17					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCTCATCCTGGGGGGCGGCC	0.662																																																	0													12	16	14					12																	121712281		2139	4209	6348	SO:0001589	frameshift_variant	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.49delC	12.37:g.121712281delG	ENSP00000312741:p.Gln17fs		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q17fs	ENST00000324774.5	37	c.49	CCDS9216.1	12																																																																																			CAMKK2	-	NULL	ENSG00000110931		0.662	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1		0	54	0	G	NM_172226		121712281	-1	tier1		no_errors	ENST00000324774	ensembl	human	known	74_37	frame_shift_del	41.67	28	20	DEL	1.000	-	-	121712281	G	-	121712281	7	5	58	1	0	1	0	1	0	0	0	0	2614	1357	47	0	1791	0	CAMKK2	12	121712281	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	270256	121712281	12139614	1483	15866											
WDR66	144406	genome.wustl.edu	37	chr12	122405917	122405917	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcctttctaggtgggActtcagatcttaccagttga	7	16	10	8	0	3	2	1	1	2	1	4	3	4	3	2	2	1	2	2	2	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:122405917A>T	ENST00000288912.4	+	17	3467	c.2613A>T	c.(2611-2613)ggA>ggT	p.G871G	WDR66_ENST00000397454.2_Silent_p.G871G|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	871							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTAGGTGGGACTTCAGATCT	0.527																																					Esophageal Squamous(85;849 1794 49757 52143)												0													103	102	102					12																	122405917		1943	4135	6078	SO:0001819	synonymous_variant	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2613A>T	12.37:g.122405917A>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G871	ENST00000288912.4	37	c.2613	CCDS41853.1	12																																																																																			WDR66	-	superfamily_WD40_repeat_dom	ENSG00000158023		0.527	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0	66	0	A	NM_144668		122405917	1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	21.88	50	14	SNP	0.797	T	T	122405917	A	T	122405917	2	4	58	1	0	0	0	0	0	0	0	1	17366	262	10	5		5	WDR66	12	122405917	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	693636	122405917	11445978	1484	15867											
MLXIP	22877	genome.wustl.edu	37	chr12	122620180	122620180	+	Frame_Shift_Del	DEL	G	G	-																															gcgagcaggtcccgctgcatGggggcagcccccaggtcact																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:122620180delG	ENST00000319080.7	+	11	2131	c.1999delG	c.(1999-2001)gggfs	p.G668fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.G275fs					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGCTGCATGGGGGCAGCCC	0.677																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													11	15	14					12																	122620180		1935	4116	6051	SO:0001589	frameshift_variant	0			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1999delG	12.37:g.122620180delG	ENSP00000312834:p.Gly668fs			Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G668fs	ENST00000319080.7	37	c.1999		12																																																																																			MLXIP	-	NULL	ENSG00000175727		0.677	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2		0	75	0	G	NM_014938		122620180	1	tier1		no_errors	ENST00000319080	ensembl	human	known	74_37	frame_shift_del	45.21	40	33	DEL	0.001	-	-	122620180	G	-	122620180	7	5	58	1	0	1	0	1	0	0	0	0	9674	1348	47	0	2041	0	MLXIP	12	122620180	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	214263	122620180	11231715	1485	15868											
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123641367	123641367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatctcaaagatttgcaGaggtgcgcaaaacatggaat	17	8	9	7	1	1	2	1	0	1	2	2	3	1	3	0	2	3	2	0	2	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123641367G>T	ENST00000606320.1	-	24	3745	c.3539C>A	c.(3538-3540)tCt>tAt	p.S1180Y	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S1150Y|MPHOSPH9_ENST00000302349.5_Intron|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S1028Y			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1180						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AAGATTTGCAGAGGTGCGCAA	0.368																																																	0													63	58	60					12																	123641367		2202	4300	6502	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3539C>A	12.37:g.123641367G>T	ENSP00000475489:p.Ser1180Tyr		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.S1028Y	ENST00000606320.1	37	c.3083		12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173984	0.78452	.	.	ENSG00000051825	ENST00000541076;ENST00000545974	T	0.51817	0.69	6.16	5.25	0.73442	.	0.141596	0.48286	D	0.000187	T	0.68146	0.2969	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.72447	-0.4291	10	0.87932	D	0	-15.2379	17.386	0.87416	0.0:0.1247:0.8753:0.0	.	1028	Q99550	MPP9_HUMAN	Y	1028;46	ENSP00000445859:S1028Y	ENSP00000445859:S1028Y	S	-	2	0	MPHOSPH9	122207320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.789000	0.75110	1.561000	0.49584	0.650000	0.86243	TCT	MPHOSPH9	-	NULL	ENSG00000051825		0.368	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2		0	21	0	G			123641367	-1			no_errors	ENST00000392425	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	123641367	G	T	123641367	3	4	58	1	0	0	0	0	1	0	0	0	9766	942	33	3	16	3	MPHOSPH9	12	123641367	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1021187	123641367	10210528	1486	15869											
SETD8	387893	genome.wustl.edu	37	chr12	123892040	123892040	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccctccttcccctccagCgtggatgcaactagagagac	8	8	10	15	1	0	2	0	0	0	2	3	4	3	3	5	2	3	1	5	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123892040C>T	ENST00000402868.3	+	8	1275	c.849C>T	c.(847-849)tgC>tgT	p.C283C	SETD8_ENST00000330479.4_Splice_Site_p.C283C			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	324	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TCCCCTCCAGCGTGGATGCAA	0.498																																																	0													70	56	60					12																	123892040		2203	4300	6503	SO:0001630	splice_region_variant	0			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"Chromatin-modifying enzymes / K-methyltransferases"	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.849-1C>T	12.37:g.123892040C>T			A8K9D0|Q86W83|Q8TD09	Silent	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.C283	ENST00000402868.3	37	c.849	CCDS9247.1	12																																																																																			SETD8	-	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	ENSG00000183955		0.498	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	-	0	141	0	C	NM_020382	Silent	123892040	1	tier1	-	no_errors	ENST00000330479	ensembl	human	known	74_37	silent	47.88	86	79	SNP	0.988	T	T	123892040	C	T	123892040	5	4	58	1	0	0	0	0	0	0	1	0	14182	782	27	1	879	1	SETD8	12	123892040	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	250673	123892040	9959855	1487	15870											
SNRNP35	11066	genome.wustl.edu	37	chr12	123950525	123950525	+	Frame_Shift_Del	DEL	A	A	-																															cttggaggcggtcttgggggAaaaaaggagtctgggcaact																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123950525delA	ENST00000526639.2	+	2	1017	c.438delA	c.(436-438)ggafs	p.G146fs	SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	146					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GTCTTGGGGGAAAAAAGGAGT	0.502																																																	0													64	75	71					12																	123950525		2203	4300	6503	SO:0001589	frameshift_variant	0			BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"RNA binding motif (RRM) containing"	30852	protein-coding gene	gene with protein product	"U1 snRNP binding protein homolog"					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.438delA	12.37:g.123950525delA	ENSP00000432595:p.Gly146fs		A8K262|Q5XKN9	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K153fs	ENST00000526639.2	37	c.453	CCDS9249.1	12																																																																																			SNRNP35	-	NULL	ENSG00000184209		0.502	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000395197.2		0	52	0	A	NM_007020		123950525	1	tier1		no_errors	ENST00000412157	ensembl	human	known	74_37	frame_shift_del	33.33	42	21	DEL	0.028	-	-	123950525	A	-	123950525	7	5	58	1	0	1	0	1	0	0	0	0	14900	233	9	0	459	0	SNRNP35	12	123950525	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	58485	123950525	9901370	1488	15871											
DNAH10	196385	genome.wustl.edu	37	chr12	124298415	124298415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatggaactcagatataggGacgtccaggagcgataccgt	12	8	12	9	3	2	1	2	0	0	1	3	5	3	4	2	3	3	0	2	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124298415G>T	ENST00000409039.3	+	20	3407	c.3382G>T	c.(3382-3384)Gac>Tac	p.D1128Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1128	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATATAGGGACGTCCAGGA	0.393																																																	0													77	74	75					12																	124298415		1979	4187	6166	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3382G>T	12.37:g.124298415G>T	ENSP00000386770:p.Asp1128Tyr		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.D1128Y	ENST00000409039.3	37	c.3382	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945009	0.73672	.	.	ENSG00000197653	ENST00000409039	T	0.22539	1.95	5.72	5.72	0.89469	.	.	.	.	.	T	0.50411	0.1614	M	0.83483	2.645	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.54214	-0.8327	9	0.72032	D	0.01	.	19.8751	0.96867	0.0:0.0:1.0:0.0	.	1128	Q8IVF4	DYH10_HUMAN	Y	1128	ENSP00000386770:D1128Y	ENSP00000386770:D1128Y	D	+	1	0	DNAH10	122864368	1.000000	0.71417	0.980000	0.43619	0.320000	0.28249	9.609000	0.98334	2.695000	0.91970	0.655000	0.94253	GAC	DNAH10	-	NULL	ENSG00000197653		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	61	0	G			124298415	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	16.44	61	12	SNP	1.000	T	T	124298415	G	T	124298415	3	4	58	1	0	0	0	0	1	0	0	0	4612	1174	41	3	3460	3	DNAH10	12	124298415	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	347890	124298415	9553480	1489	15872											
DNAH10	196385	genome.wustl.edu	37	chr12	124335572	124335572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtgatcgtgcccgacctGcagcagatctgtgagatcat	8	10	12	11	3	2	3	1	2	1	2	4	5	2	3	2	0	3	2	2	0	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124335572G>A	ENST00000409039.3	+	34	5911	c.5886G>A	c.(5884-5886)ctG>ctA	p.L1962L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1962	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCCCGACCTGCAGCAGATCT	0.642																																																	0													40	44	42					12																	124335572		2124	4250	6374	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5886G>A	12.37:g.124335572G>A			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.L1962	ENST00000409039.3	37	c.5886	CCDS9255.2	12																																																																																			DNAH10	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197653		0.642	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	40	0	G			124335572	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	38.46	24	15	SNP	1.000	A	A	124335572	G	A	124335572	2	1	58	1	0	0	0	0	0	0	0	1	4612	1306	46	3		3	DNAH10	12	124335572	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	37157	124335572	9516323	1490	15873											
NCOR2	9612	genome.wustl.edu	37	chr12	124846745	124846745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctgctgaggggcgtcGctctccggctgcaggttttg	3	10	16	12	3	1	1	0	1	1	0	3	1	1	1	2	5	2	6	2	5	0	2	rs374201637		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124846745G>A	ENST00000405201.1	-	22	3027	c.3027C>T	c.(3025-3027)agC>agT	p.S1009S	NCOR2_ENST00000429285.2_Silent_p.S991S|NCOR2_ENST00000404121.2_Silent_p.S562S|NCOR2_ENST00000397355.1_Silent_p.S992S|NCOR2_ENST00000404621.1_Silent_p.S991S|NCOR2_ENST00000356219.3_Silent_p.S1008S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1009					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GAGGGGCGTCGCTCTCCGGCT	0.711																																																	0								G	,,	0,4052		0,0,2026	9	12	11		2973,2973,3027	-4.1	0	12		11	2,8330		0,2,4164	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	0,2,6190	AA,AG,GG		0.024,0.0,0.0161	,,	991/2459,991/2505,1009/2515	124846745	2,12382	2026	4166	6192	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3027C>T	12.37:g.124846745G>A			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1008	ENST00000405201.1	37	c.3024	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.711	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	34	0	G	NM_006312		124846745	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.001	A	A	124846745	G	A	124846745	2	1	58	1	0	0	0	0	0	0	0	1	10275	1078	38	1		1	NCOR2	12	124846745	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	511173	124846745	9005150	1491	15874											
DHX37	57647	genome.wustl.edu	37	chr12	125438447	125438447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtggtcagctggccccGcaggcgccggatctccatca	5	7	14	15	4	3	0	2	0	1	0	4	1	3	1	4	5	2	2	4	5	0	0	rs369049552		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:125438447G>A	ENST00000308736.2	-	20	2772	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	DHX37_ENST00000544745.1_Missense_Mutation_p.R679W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	892							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCTGGCCCCGCAGGCGCCGG	0.647																																																	0								G	TRP/ARG	0,4394		0,0,2197	16	16	16		2674	3.5	1	12		16	1,8579		0,1,4289	no	missense	DHX37	NM_032656.3	101	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	892/1158	125438447	1,12973	2197	4290	6487	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"DEAH-boxes"	17210	protein-coding gene	gene with protein product			"DEAD/DEAH box helicase DDX37"	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2674C>T	12.37:g.125438447G>A	ENSP00000311135:p.Arg892Trp		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R892W	ENST00000308736.2	37	c.2674	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096113	0.76870	0.0	1.17E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03330	3.97;3.97	5.44	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49351	-0.8949	10	0.87932	D	0	-32.7186	13.3967	0.60858	0.0:0.0:0.5587:0.4413	.	892	Q8IY37	DHX37_HUMAN	W	892;679	ENSP00000311135:R892W;ENSP00000439009:R679W	ENSP00000311135:R892W	R	-	1	2	DHX37	124004400	0.934000	0.31675	1.000000	0.80357	0.985000	0.73830	0.934000	0.28910	1.284000	0.44531	0.462000	0.41574	CGG	DHX37	-	superfamily_P-loop_NTPase	ENSG00000150990		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		-	0	36	0	G	NM_032656		125438447	-1	tier1	-	no_errors	ENST00000308736	ensembl	human	known	74_37	missense	48.57	18	17	SNP	0.997	A	A	125438447	G	A	125438447	3	1	58	1	0	0	0	0	1	0	0	0	4524	1086	38	1	831	1	DHX37	12	125438447	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	591702	125438447	8413448	1492	15875											
AACS	65985	genome.wustl.edu	37	chr12	125613986	125613986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaacaagtacaggaaggCgtatttctccaaattcccag	13	8	9	11	2	1	0	0	0	1	0	3	1	2	1	2	3	2	3	2	3	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:125613986C>T	ENST00000316519.6	+	14	1735	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	AACS_ENST00000261686.6_Missense_Mutation_p.A510V|AACS_ENST00000545511.1_Missense_Mutation_p.R90C|AACS_ENST00000543665.1_Missense_Mutation_p.R10C|AACS_ENST00000316543.10_Missense_Mutation_p.A108V	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	510					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TACAGGAAGGCGTATTTCTCC	0.567																																																	0													150	150	150					12																	125613986		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1529C>T	12.37:g.125613986C>T	ENSP00000324842:p.Ala510Val		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.A510V	ENST00000316519.6	37	c.1529	CCDS9263.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.215111|5.215111	0.95104|0.95104	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000545511;ENST00000543665	T;T;T;T;T|.	0.42513|.	0.97;0.97;2.73;0.97;2.73|.	4.66|4.66	4.66|4.66	0.58398|0.58398	AMP-dependent synthetase/ligase (1);|.	0.103551|.	0.64402|.	D|.	0.000003|.	D|D	0.86936|0.86936	0.6053|0.6053	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.68483|.	0.958;0.955|.	D|D	0.90979|0.90979	0.4826|0.4826	10|6	0.87932|0.87932	D|D	0|0	.|.	17.7216|17.7216	0.88353|0.88353	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	510;510|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	V|C	510;510;108;175;65|90;10	ENSP00000324842:A510V;ENSP00000261686:A510V;ENSP00000324929:A108V;ENSP00000441686:A175V;ENSP00000441331:A65V|.	ENSP00000261686:A510V|ENSP00000442007:R10C	A|R	+|+	2|1	0|0	AACS|AACS	124179939|124179939	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.983000|0.983000	0.72400|0.72400	6.728000|6.728000	0.74769|0.74769	2.393000|2.393000	0.81446|0.81446	0.462000|0.462000	0.41574|0.41574	GCG|CGT	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.567	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0	212	0	C	NM_023928		125613986	1	tier1	-	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	26.28	115	41	SNP	1.000	T	T	125613986	C	T	125613986	3	4	58	1	0	0	0	0	1	0	0	0	9	768	27	1	1583	1	AACS	12	125613986	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	175539	125613986	8237909	1493	15876											
AACS	65985	genome.wustl.edu	37	chr12	125626670	125626670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaaagtggaagttgcCgtcaaacagatcatcgctgg	13	7	13	8	2	2	2	2	0	0	2	3	3	2	3	1	3	2	3	1	3	4	1	rs148449574	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:125626670C>T	ENST00000316519.6	+	18	2120	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	AACS_ENST00000261686.6_Missense_Mutation_p.R571C|AACS_ENST00000545511.1_Silent_p.A150A|AACS_ENST00000543665.1_Silent_p.A70A|AACS_ENST00000316543.10_Silent_p.A236A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	638					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGGAAGTTGCCGTCAAACAGA	0.532													C|||	6	0.00119808	0.0045	0	5008	,	,		21452	0		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	111	106	108		1914	-9.3	0	12	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	AACS	NM_023928.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		638/673	125626670	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1914C>T	12.37:g.125626670C>T			Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.R571C	ENST00000316519.6	37	c.1711	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.980974	0.02197	2.27E-4	0.0	ENSG00000081760	ENST00000261686	T	0.09911	2.93	4.63	-9.26	0.00662	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.22292	N	0.999224	B	0.02656	0.0	B	0.01281	0.0	T	0.27331	-1.0077	8	0.33141	T	0.24	.	8.5829	0.33640	0.0623:0.1194:0.2491:0.5692	.	571	Q86V21-2	.	C	571	ENSP00000261686:R571C	ENSP00000261686:R571C	R	+	1	0	AACS	124192623	0.000000	0.05858	0.017000	0.16124	0.011000	0.07611	-5.621000	0.00109	-4.505000	0.00045	-1.079000	0.02226	CGT	AACS	-	NULL	ENSG00000081760		0.532	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0	63	0	C	NM_023928		125626670	1	tier1	rs148449574	no_errors	ENST00000261686	ensembl	human	known	74_37	missense	33.77	51	26	SNP	0.000	T	T	125626670	C	T	125626670	2	4	58	1	0	0	0	0	0	0	0	1	9	639	23	1		1	AACS	12	125626670	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	12684	125626670	8225225	1494	15877											
TMEM132B	114795	genome.wustl.edu	37	chr12	126138151	126138151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattttgttcagtgatggttCggtgacacctttagacattt	8	17	10	6	1	1	3	1	2	0	1	2	4	1	3	1	2	0	2	1	2	1	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:126138151C>T	ENST00000299308.3	+	9	2140	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S223L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	711						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGATGGTTCGGTGACACCT	0.373																																																	0													111	107	108					12																	126138151		1892	4108	6000	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2132C>T	12.37:g.126138151C>T	ENSP00000299308:p.Ser711Leu		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.S711L	ENST00000299308.3	37	c.2132	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913847	0.52439	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.14640	2.49;2.49	5.55	5.55	0.83447	.	0.321128	0.27298	N	0.020004	T	0.20861	0.0502	M	0.75085	2.285	0.54753	D	0.999988	P	0.45240	0.854	B	0.37144	0.242	T	0.05632	-1.0873	10	0.59425	D	0.04	.	19.5008	0.95093	0.0:1.0:0.0:0.0	.	711	Q14DG7	T132B_HUMAN	L	711;223	ENSP00000299308:S711L;ENSP00000440436:S223L	ENSP00000299308:S711L	S	+	2	0	TMEM132B	124704104	0.998000	0.40836	0.131000	0.22000	0.993000	0.82548	5.789000	0.69029	2.612000	0.88384	0.655000	0.94253	TCG	TMEM132B	-	NULL	ENSG00000139364		0.373	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0	69	0	C	NM_052907		126138151	1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	38.36	44	28	SNP	0.856	T	T	126138151	C	T	126138151	3	4	58	1	0	0	0	0	1	0	0	0	16093	893	31	1	2166	1	TMEM132B	12	126138151	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	511481	126138151	7713744	1495	15878											
FZD10	11211	genome.wustl.edu	37	chr12	130647719	130647719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgccgctggtggagtacGgctgccacggccacctccgc	4	6	14	17	6	0	0	0	0	0	0	2	1	1	1	5	4	2	3	5	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:130647719G>A	ENST00000229030.4	+	1	716	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R45Q			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	78	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTGGAGTACGGCTGCCACGG	0.647																																																	0													39	38	39					12																	130647719		2200	4290	6490	SO:0001583	missense	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.232G>A	12.37:g.130647719G>A	ENSP00000229030:p.Gly78Ser			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.G78S	ENST00000229030.4	37	c.232	CCDS9267.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.723823|2.723823	0.48728|0.48728	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.79940|.	-1.32|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Frizzled domain (5);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.64830|.	0.994|.	P|.	0.58820|.	0.846|.	T|T	0.79995|0.79995	-0.1568|-0.1568	10|6	0.49607|0.87932	T|D	0.09|0	.|.	17.6734|17.6734	0.88224|0.88224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	78|.	Q9ULW2|.	FZD10_HUMAN|.	S|Q	78|45	ENSP00000229030:G78S|.	ENSP00000229030:G78S|ENSP00000438460:R45Q	G|R	+|+	1|2	0|0	FZD10|FZD10	129213672|129213672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.496000|7.496000	0.81526|0.81526	2.160000|2.160000	0.67779|0.67779	0.561000|0.561000	0.74099|0.74099	GGC|CGG	FZD10	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000111432		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		-	0	33	0	G			130647719	1	tier1	-	no_errors	ENST00000229030	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	A	A	130647719	G	A	130647719	3	1	58	1	0	0	0	0	1	0	0	0	6153	1116	39	1	234	1	FZD10	12	130647719	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4509568	130647719	3204176	1496	15879											
FZD10	11211	genome.wustl.edu	37	chr12	130648109	130648109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagagcgcgtcgtgcGcgccgctctgcacgcccggc	5	5	16	15	8	1	2	0	0	1	2	2	3	1	2	2	2	3	2	2	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:130648109G>A	ENST00000229030.4	+	1	1106	c.622G>A	c.(622-624)Gcg>Acg	p.A208T	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R175H			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	208					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGCGTCGTGCGCGCCGCTCTG	0.711																																																	0													31	27	28					12																	130648109		2201	4298	6499	SO:0001583	missense	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"GPCR / Class F : Frizzled receptors", "CD molecules"	4039	protein-coding gene	gene with protein product		606147	"frizzled (Drosophila) homolog 10", "frizzled homolog 10 (Drosophila)", "frizzled 10, seven transmembrane spanning receptor", "frizzled family receptor 10"			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.622G>A	12.37:g.130648109G>A	ENSP00000229030:p.Ala208Thr			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.A208T	ENST00000229030.4	37	c.622	CCDS9267.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.058070|3.058070	0.55325|0.55325	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.78126|.	-1.15|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.75671|0.75671	0.3881|0.3881	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	P|.	0.48552|.	0.581|.	T|T	0.78894|0.78894	-0.2024|-0.2024	10|6	0.51188|0.87932	T|D	0.08|0	.|.	18.4013|18.4013	0.90518|0.90518	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	208|.	Q9ULW2|.	FZD10_HUMAN|.	T|H	208|175	ENSP00000229030:A208T|.	ENSP00000229030:A208T|ENSP00000438460:R175H	A|R	+|+	1|2	0|0	FZD10|FZD10	129214062|129214062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.643000|9.643000	0.98464|0.98464	2.336000|2.336000	0.79503|0.79503	0.491000|0.491000	0.48974|0.48974	GCG|CGC	FZD10	-	NULL	ENSG00000111432		0.711	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding			0	19	0	G			130648109	1			no_errors	ENST00000229030	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A	A	130648109	G	A	130648109	3	1	58	1	0	0	0	0	1	0	0	0	6153	1087	38	1	624	1	FZD10	12	130648109	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	390	130648109	3203786	1497	15880											
RIMBP2	23504	genome.wustl.edu	37	chr12	130892306	130892306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgagctttctctggggtCgtagtcatacagggccacca	7	9	14	11	2	2	0	1	0	1	0	4	1	2	0	2	4	2	2	2	4	2	3	rs370980032		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:130892306C>T	ENST00000261655.4	-	16	3053	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	964	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTCTGGGGTCGTAGTCATAC	0.547																																																	0								C	ASN/ASP	0,4406		0,0,2203	456	346	384		2890	4.9	1	12		384	2,8598	2.2+/-6.3	0,2,4298	no	missense	RIMBP2	NM_015347.4	23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	964/1053	130892306	2,13004	2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2890G>A	12.37:g.130892306C>T	ENSP00000261655:p.Asp964Asn		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.D964N	ENST00000261655.4	37	c.2890	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219209	0.79464	0.0	2.33E-4	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.49432	0.78;0.78	4.93	4.93	0.64822	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	N	0.16233	0.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35251	-0.9796	10	0.02654	T	1	-40.7606	18.1305	0.89599	0.0:1.0:0.0:0.0	.	964	O15034	RIMB2_HUMAN	N	964;101	ENSP00000261655:D964N;ENSP00000439030:D101N	ENSP00000261655:D964N	D	-	1	0	RIMBP2	129458259	1.000000	0.71417	0.992000	0.48379	0.891000	0.51852	7.741000	0.84997	2.278000	0.76064	0.555000	0.69702	GAC	RIMBP2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.547	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	174	0	C	NM_015347		130892306	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	45.03	94	77	SNP	1.000	T	T	130892306	C	T	130892306	3	4	58	1	0	0	0	0	1	0	0	0	13408	884	31	1	284	1	RIMBP2	12	130892306	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	244197	130892306	2959589	1498	15881											
STX2	2054	genome.wustl.edu	37	chr12	131283099	131283100	+	Frame_Shift_Ins	INS	-	-	T																															ttgctctgatatttgatagcINStttttttgtttcttctttag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:131283099_131283100insT	ENST00000392373.2	-	9	850_851	c.756_757insA	c.(754-759)aaagctfs	p.A253fs	STX2_ENST00000261653.6_Frame_Shift_Ins_p.A253fs	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	253	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TATTTGATAGCTTTTTTTGTTT	0.337																																																	0																																										SO:0001589	frameshift_variant	0			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"epimorphin"	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.757dupA	12.37:g.131283106_131283106dupT	ENSP00000376178:p.Ala253fs		Q86VW8	Frame_Shift_Ins	INS	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A252fs	ENST00000392373.2	37	c.757_756	CCDS9270.1	12																																																																																			STX2	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000111450		0.337	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2		0	71	0	-	NM_194356		131283100	-1	tier1		no_errors	ENST00000392373	ensembl	human	known	74_37	frame_shift_ins	28.00	54	21	INS	1.000:0.955	T	T	131283100	-	T	131283099	7	5	58	1	0	1	1	0	0	0	0	0	15392	797	28	0	199	0	STX2	12	131283099	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	390793	131283099	2568796	1499	15882											
RAN	5901	genome.wustl.edu	37	chr12	131357571	131357571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgggtgttgaggttcatCccctagtgttccacaccaac	7	12	9	13	0	1	1	1	1	0	0	3	1	3	1	5	2	1	3	5	2	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:131357571C>A	ENST00000543796.1	+	4	403	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	RAN_ENST00000392367.3_Missense_Mutation_p.P49T|RAN_ENST00000392369.2_Missense_Mutation_p.P49T|RAN_ENST00000254675.3_5'UTR|RAN_ENST00000541630.1_5'UTR			P62826	RAN_HUMAN	RAN, member RAS oncogene family	49					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TGAGGTTCATCCCCTAGTGTT	0.468																																																	0													129	119	122					12																	131357571		2203	4300	6503	SO:0001583	missense	0			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.145C>A	12.37:g.131357571C>A	ENSP00000446215:p.Pro49Thr		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P49T	ENST00000543796.1	37	c.145	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005730	0.35415	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.04	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.02420	-0.555	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.008	T	0.48080	-0.9066	10	0.48119	T	0.1	-7.4928	10.5471	0.45066	0.0:0.9038:0.0:0.0962	.	49;49	A8K3Z8;P62826	.;RAN_HUMAN	T	49;67;49;45;49	ENSP00000446215:P49T;ENSP00000396127:P67T;ENSP00000376176:P49T;ENSP00000444042:P45T;ENSP00000376174:P49T	ENSP00000376174:P49T	P	+	1	0	RAN	129923524	1.000000	0.71417	0.034000	0.17996	0.245000	0.25701	7.311000	0.78958	0.811000	0.34303	0.511000	0.50034	CCC	RAN	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132341		0.468	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2	-	0	64	0	C	NM_006325		131357571	1	tier1	-	no_errors	ENST00000392369	ensembl	human	known	74_37	missense	39.71	41	27	SNP	1.000	A	A	131357571	C	A	131357571	3	1	58	1	0	0	0	0	1	0	0	0	13069	855	30	3	155	3	RAN	12	131357571	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	74472	131357571	2494324	1500	15883											
RAN	5901	genome.wustl.edu	37	chr12	131357587	131357587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcccctagtgttccacaCcaacagaggacctattaagt	12	10	6	13	0	1	1	1	0	0	1	3	2	3	2	5	1	1	1	5	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:131357587C>A	ENST00000543796.1	+	4	419	c.161C>A	c.(160-162)aCc>aAc	p.T54N	RAN_ENST00000392367.3_Missense_Mutation_p.T54N|RAN_ENST00000392369.2_Missense_Mutation_p.T54N|RAN_ENST00000254675.3_5'UTR|RAN_ENST00000541630.1_5'UTR			P62826	RAN_HUMAN	RAN, member RAS oncogene family	54					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		GTGTTCCACACCAACAGAGGA	0.458																																																	0													113	108	109					12																	131357587		2203	4300	6503	SO:0001583	missense	0			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.161C>A	12.37:g.131357587C>A	ENSP00000446215:p.Thr54Asn		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T54N	ENST00000543796.1	37	c.161	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915585	0.73098	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.04	2.13	0.27403	Small GTP-binding protein domain (1);	0.101547	0.64402	N	0.000002	D	0.85423	0.5693	M	0.85373	2.75	0.80722	D	1	P;P	0.49635	0.926;0.926	P;P	0.62560	0.904;0.904	D	0.83578	0.0116	10	0.87932	D	0	-14.4638	7.1861	0.25801	0.1701:0.7378:0.0:0.092	.	54;54	A8K3Z8;P62826	.;RAN_HUMAN	N	54;72;54;50;54	ENSP00000446215:T54N;ENSP00000396127:T72N;ENSP00000376176:T54N;ENSP00000444042:T50N;ENSP00000376174:T54N	ENSP00000376174:T54N	T	+	2	0	RAN	129923540	1.000000	0.71417	0.258000	0.24420	0.764000	0.43329	7.311000	0.78958	0.269000	0.21961	0.511000	0.50034	ACC	RAN	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132341		0.458	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2		0	70	0	C	NM_006325		131357587	1			no_errors	ENST00000392369	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	131357587	C	A	131357587	3	1	58	1	0	0	0	0	1	0	0	0	13069	507	18	3	171	3	RAN	12	131357587	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	16	131357587	2494308	1501	15884											
ULK1	8408	genome.wustl.edu	37	chr12	132400471	132400471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactctccccgcacttccGggctgggctgccgcctgcac	4	7	11	19	3	1	0	0	0	1	0	3	0	2	0	5	2	3	5	5	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:132400471G>T	ENST00000321867.4	+	19	1996	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	549					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.G549R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCGCACTTCCGGGCTGGGCTG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											38	45	43					12																	132400471		2203	4295	6498	SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1645G>T	12.37:g.132400471G>T	ENSP00000324560:p.Gly549Trp		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G549W	ENST00000321867.4	37	c.1645	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094503	0.56075	.	.	ENSG00000177169	ENST00000321867	T	0.39406	1.08	5.48	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66131	-0.6000	10	0.56958	D	0.05	-30.6506	14.1131	0.65134	0.0724:0.0:0.9276:0.0	.	549	O75385	ULK1_HUMAN	W	549	ENSP00000324560:G549W	ENSP00000324560:G549W	G	+	1	0	ULK1	130966424	1.000000	0.71417	0.557000	0.28306	0.133000	0.20885	8.671000	0.91174	1.322000	0.45245	0.561000	0.74099	GGG	ULK1	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.692	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3		0	50	0	G			132400471	1			no_errors	ENST00000321867	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.993	T	T	132400471	G	T	132400471	3	4	58	1	0	0	0	0	1	0	0	0	17024	1116	39	2	1719	2	ULK1	12	132400471	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1042884	132400471	1451424	1502	15885											
POLE	5426	genome.wustl.edu	37	chr12	133257836	133257836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgttccaggcgcttgagtGccgaaactgaggaagtggcg	8	8	15	10	4	0	2	0	2	0	0	2	4	2	3	3	3	2	2	3	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:133257836G>T	ENST00000320574.5	-	2	135	c.92C>A	c.(91-93)gCa>gAa	p.A31E	POLE_ENST00000535270.1_Missense_Mutation_p.A31E	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	31			A -> S (in dbSNP:rs34047482).		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCGCTTGAGTGCCGAAACTGA	0.502								DNA polymerases (catalytic subunits)																																									0													104	103	104					12																	133257836		2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.92C>A	12.37:g.133257836G>T	ENSP00000322570:p.Ala31Glu		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.A31E	ENST00000320574.5	37	c.92	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	g	14.93	2.682764	0.47991	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.03301	4.22;4.21;3.98	4.83	1.92	0.25849	.	0.178114	0.49305	D	0.000152	T	0.06325	0.0163	M	0.69248	2.105	0.52099	D	0.999948	P;B	0.45715	0.865;0.411	B;B	0.43623	0.425;0.111	T	0.27536	-1.0071	10	0.48119	T	0.1	.	9.5224	0.39143	0.2432:0.0:0.7568:0.0	.	31;31	F5H1D6;Q07864	.;DPOE1_HUMAN	E	31;42;31	ENSP00000322570:A31E;ENSP00000406383:A42E;ENSP00000445753:A31E	ENSP00000322570:A31E	A	-	2	0	POLE	131767909	1.000000	0.71417	0.028000	0.17463	0.026000	0.11368	5.232000	0.65332	0.173000	0.19788	-1.139000	0.01908	GCA	POLE	-	NULL	ENSG00000177084		0.502	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2		0	27	0	G	NM_006231		133257836	-1			no_errors	ENST00000320574	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.999	T	T	133257836	G	T	133257836	3	4	58	1	0	0	0	0	1	0	0	0	12235	1319	46	3	6960	3	POLE	12	133257836	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	857365	133257836	594059	1503	15886											
GOLGA3	2802	genome.wustl.edu	37	chr12	133349866	133349866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatctggcgctgcaggCtgtccatctcctgcctggga	4	10	11	16	1	2	0	0	0	2	0	5	1	4	1	5	3	2	3	5	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:133349866C>T	ENST00000450791.2	-	23	4505	c.4322G>A	c.(4321-4323)aGc>aAc	p.S1441N	GOLGA3_ENST00000204726.3_Missense_Mutation_p.S1441N			Q08378	GOGA3_HUMAN	golgin A3	1441					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCGCTGCAGGCTGTCCATCTC	0.657																																																	0													23	20	21					12																	133349866		2199	4289	6488	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4322G>A	12.37:g.133349866C>T	ENSP00000410378:p.Ser1441Asn		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S1441N	ENST00000450791.2	37	c.4322	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.633512	0.96682	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.27402	1.67;1.67	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43032	-0.9416	10	0.66056	D	0.02	.	19.6809	0.95962	0.0:1.0:0.0:0.0	.	1441	Q08378	GOGA3_HUMAN	N	1441	ENSP00000204726:S1441N;ENSP00000410378:S1441N	ENSP00000204726:S1441N	S	-	2	0	GOLGA3	131859939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.251000	0.78297	2.753000	0.94483	0.650000	0.86243	AGC	GOLGA3	-	NULL	ENSG00000090615		0.657	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	32	0	C	NM_005895		133349866	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	55.56	12	15	SNP	1.000	T	T	133349866	C	T	133349866	3	4	58	1	0	0	0	0	1	0	0	0	6580	797	28	3	178	3	GOLGA3	12	133349866	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	92030	133349866	502029	1504	15887											
ZNF140	7699	genome.wustl.edu	37	chr12	133682867	133682867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaatgtaatgaatgtaGgaaagctttccgttgtcact	12	14	10	5	1	1	2	1	2	0	0	2	3	2	3	1	1	1	5	1	1	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:133682867G>T	ENST00000355557.2	+	5	2287	c.1004G>T	c.(1003-1005)aGg>aTg	p.R335M	ZNF140_ENST00000544426.1_Missense_Mutation_p.R232M|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AATGAATGTAGGAAAGCTTTC	0.403																																																	0													119	110	113					12																	133682867		2203	4300	6503	SO:0001583	missense	0			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"Zinc fingers, C2H2-type", "-"	12925	protein-coding gene	gene with protein product		604082	"zinc finger protein 140 (clone pHZ-39)"			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1004G>T	12.37:g.133682867G>T	ENSP00000347755:p.Arg335Met		D3DXJ3|Q05CP6|Q8IV75	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R335M	ENST00000355557.2	37	c.1004	CCDS9282.1	12	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222356	0.39300	.	.	ENSG00000196387	ENST00000355557;ENST00000544426	T;T	0.15017	2.46;2.46	3.84	0.785	0.18584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.482540	0.04807	N	0.434480	T	0.17789	0.0427	L	0.32530	0.975	0.80722	D	1	P	0.35612	0.512	B	0.41619	0.361	T	0.06006	-1.0851	10	0.87932	D	0	.	5.7398	0.18087	0.1933:0.1966:0.6101:0.0	.	335	P52738	ZN140_HUMAN	M	335;232	ENSP00000347755:R335M;ENSP00000445411:R232M	ENSP00000347755:R335M	R	+	2	0	ZNF140	132192940	0.133000	0.22466	0.006000	0.13384	0.898000	0.52572	0.962000	0.29280	0.032000	0.15435	0.557000	0.71058	AGG	ZNF140	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196387		0.403	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF140	HGNC	protein_coding	OTTHUMT00000397169.1	-	0	70	0	G	NM_003440		133682867	1	tier1	-	no_errors	ENST00000355557	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.974	T	T	133682867	G	T	133682867	3	4	58	1	0	0	0	0	1	0	0	0	17777	1000	35	3	1018	3	ZNF140	12	133682867	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	333001	133682867	169028	1505	15888											
ZMYM2	7750	genome.wustl.edu	37	chr13	20567457	20567457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagctgatcaaagaaccaTaacatttacatcatcaaaaa	19	9	5	8	0	3	2	3	1	0	1	3	2	3	2	1	1	4	2	1	1	7	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20567457T>C	ENST00000382874.2	+	4	435	c.245T>C	c.(244-246)aTa>aCa	p.I82T	ZMYM2_ENST00000382881.3_Missense_Mutation_p.I82T|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I82T|ZMYM2_ENST00000382869.3_Missense_Mutation_p.I82T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAAGAACCATAACATTTACA	0.393																																																	0													61	56	58					13																	20567457		1947	4157	6104	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.245T>C	13.37:g.20567457T>C	ENSP00000372327:p.Ile82Thr		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.I82T	ENST00000382874.2	37	c.245	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	T	10.62	1.402356	0.25291	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.16	3.97	0.46021	.	0.947609	0.08934	N	0.872540	T	0.18635	0.0447	N	0.14661	0.345	0.80722	D	1	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.09377	0.0;0.0;0.004	T	0.04551	-1.0943	10	0.21014	T	0.42	-1.4184	8.8686	0.35303	0.0:0.167:0.0:0.833	.	82;82;82	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	T	82	ENSP00000372322:I82T;ENSP00000372334:I82T;ENSP00000372327:I82T;ENSP00000372324:I82T	ENSP00000372322:I82T	I	+	2	0	ZMYM2	19465457	0.767000	0.28508	0.997000	0.53966	0.982000	0.71751	1.899000	0.39818	0.903000	0.36546	0.533000	0.62120	ATA	ZMYM2	-	NULL	ENSG00000121741		0.393	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2		0	31	0	T	NM_003453		20567457	1			no_errors	ENST00000382869	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.988	C	C	20567457	T	C	20567457	3	2	58	1	0	0	0	0	1	0	0	0	17748	1406	49	4	247	4	ZMYM2	13	20567457	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09		20567457	94602421	1506	15889											
ZMYM2	7750	genome.wustl.edu	37	chr13	20610980	20610980	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaagggagcaactaaagaActcgatggtgttgtgagaga	16	7	14	4	1	0	4	0	1	0	3	1	7	0	5	0	2	3	2	0	2	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20610980A>G	ENST00000382874.2	+	13	2413	c.2223A>G	c.(2221-2223)gaA>gaG	p.E741E	ZMYM2_ENST00000382871.2_Silent_p.E741E|ZMYM2_ENST00000382883.3_Silent_p.E223E|ZMYM2_ENST00000382869.3_Silent_p.E741E	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAACTAAAGAACTCGATGGTG	0.378																																																	0													119	116	117					13																	20610980		1855	4102	5957	SO:0001819	synonymous_variant	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2223A>G	13.37:g.20610980A>G			A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.E741	ENST00000382874.2	37	c.2223	CCDS45016.1	13																																																																																			ZMYM2	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000121741		0.378	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	-	0	53	0	A	NM_003453		20610980	1	tier1	-	no_errors	ENST00000382869	ensembl	human	known	74_37	silent	53.97	29	34	SNP	0.997	G	G	20610980	A	G	20610980	2	3	58	1	0	0	0	0	0	0	0	1	17748	40	2	4		4	ZMYM2	13	20610980	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	43523	20610980	94558898	1507	15890											
ZMYM2	7750	genome.wustl.edu	37	chr13	20641084	20641084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaaatatacgtatggcGtaaatgcatggaaacactgg	14	11	9	7	2	1	0	1	0	0	0	1	1	1	1	0	3	3	3	0	3	7	5	rs542204363		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20641084G>A	ENST00000382874.2	+	21	3416	c.3226G>A	c.(3226-3228)Gta>Ata	p.V1076I	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I|ZMYM2_ENST00000382869.3_Missense_Mutation_p.V1076I	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1076					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACGTATGGCGTAAATGCATG	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		16516	0		0	False		,,,				2504	0																0													128	119	122					13																	20641084		1863	4096	5959	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3226G>A	13.37:g.20641084G>A	ENSP00000372327:p.Val1076Ile		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.V1076I	ENST00000382874.2	37	c.3226	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027658	0.35797	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.25579	1.79	5.06	5.06	0.68205	.	0.270733	0.36200	N	0.002736	T	0.17195	0.0413	N	0.10809	0.05	0.80722	D	1	B	0.21905	0.062	B	0.10450	0.005	T	0.04915	-1.0918	10	0.48119	T	0.1	-11.2344	18.4254	0.90607	0.0:0.0:1.0:0.0	.	1076	Q9UBW7	ZMYM2_HUMAN	I	1076;1076;1074;1074;454	ENSP00000372322:V1076I	ENSP00000372322:V1076I	V	+	1	0	ZMYM2	19539084	0.994000	0.37717	0.833000	0.33012	0.632000	0.37999	2.176000	0.42500	2.354000	0.79902	0.455000	0.32223	GTA	ZMYM2	-	NULL	ENSG00000121741		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	-	0	48	0	G	NM_003453		20641084	1	tier1	-	no_errors	ENST00000382869	ensembl	human	known	74_37	missense	27.63	55	21	SNP	0.999	A	A	20641084	G	A	20641084	3	1	58	1	0	0	0	0	1	0	0	0	17748	1145	40	1	3296	1	ZMYM2	13	20641084	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	30104	20641084	94528794	1508	15891											
GJA3	2700	genome.wustl.edu	37	chr13	20716933	20716933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtacagaaagtactggccGgcgatgaagcccacctcgaa	12	5	11	13	4	0	2	0	1	0	1	1	4	0	2	4	2	3	2	4	2	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20716933G>A	ENST00000241125.3	-	2	671	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	165					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGTACTGGCCGGCGATGAAGC	0.657																																																	0													44	42	43					13																	20716933		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"Ion channels / Gap junction proteins (connexins)"	4277	protein-coding gene	gene with protein product	"connexin 46"	121015	"gap junction protein, alpha 3, 46kD (connexin 46)", "gap junction protein, alpha 3, 46kDa (connexin 46)"	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.495C>T	13.37:g.20716933G>A			Q0VAB7|Q9H537	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46	p.A165	ENST00000241125.3	37	c.495	CCDS9289.1	13																																																																																			GJA3	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000121743		0.657	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA3	HGNC	protein_coding	OTTHUMT00000044059.3	-	0	68	0	G	NM_021954		20716933	-1	tier1	-	no_errors	ENST00000241125	ensembl	human	known	74_37	silent	50.00	49	49	SNP	0.996	A	A	20716933	G	A	20716933	2	1	58	1	0	0	0	0	0	0	0	1	6428	1103	39	1		1	GJA3	13	20716933	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	75849	20716933	94452945	1509	15892											
SACS	26278	genome.wustl.edu	37	chr13	23910851	23910851	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgactgcctcacacccacGgtttcaaaaagttcgcggaa	12	8	8	13	3	2	1	2	1	0	0	3	2	2	2	2	2	1	2	2	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:23910851G>T	ENST00000382292.3	-	9	7437	c.7164C>A	c.(7162-7164)acC>acA	p.T2388T	SACS_ENST00000382298.3_Silent_p.T2388T|SACS_ENST00000402364.1_Silent_p.T1638T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2388					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCACACCCACGGTTTCAAAAA	0.353																																																	0													34	35	35					13																	23910851		2203	4299	6502	SO:0001819	synonymous_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7164C>A	13.37:g.23910851G>T			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.T2388	ENST00000382292.3	37	c.7164	CCDS9300.2	13																																																																																			SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	32	0	G	NM_014363		23910851	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	silent	36.17	30	17	SNP	0.998	T	T	23910851	G	T	23910851	2	4	58	1	0	0	0	0	0	0	0	1	13849	1103	39	2		2	SACS	13	23910851	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3193918	23910851	91259027	1510	15893											
SPATA13	221178	genome.wustl.edu	37	chr13	24876772	24876772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggccccaccgcaccaggGcctgcaccccatccaccagc	7	4	9	21	1	0	0	0	0	0	0	1	0	1	0	9	2	2	2	9	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:24876772G>A	ENST00000382095.4	+	12	2227	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	SPATA13_ENST00000409126.1_Missense_Mutation_p.G467D|SPATA13_ENST00000424834.2_Missense_Mutation_p.G1232D|SPATA13_ENST00000399949.2_Missense_Mutation_p.G529D|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000343003.6_Missense_Mutation_p.G551D|SPATA13_ENST00000382108.3_Missense_Mutation_p.G1232D	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	607	C-terminal tail.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCGCACCAGGGCCTGCACCCC	0.612																																																	0													99	94	96					13																	24876772		2203	4300	6503	SO:0001583	missense	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1820G>A	13.37:g.24876772G>A	ENSP00000371527:p.Gly607Asp		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G1232D	ENST00000382095.4	37	c.3695	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459676	0.26248	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000399949;ENST00000409126;ENST00000343003	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	6.07	-0.25	0.13007	.	0.517440	0.24412	N	0.038750	T	0.13670	0.0331	N	0.08118	0	0.19945	N	0.999944	B;B;B;B;B	0.14438	0.0;0.0;0.0;0.0;0.01	B;B;B;B;B	0.20184	0.001;0.002;0.001;0.001;0.028	T	0.12268	-1.0554	10	0.27785	T	0.31	.	1.8124	0.03093	0.3491:0.2106:0.3327:0.1076	.	467;551;491;529;607	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-2;Q96N96	.;.;.;.;SPT13_HUMAN	D	1232;607;505;529;467;551	ENSP00000371542:G1232D;ENSP00000371527:G607D;ENSP00000401605:G505D;ENSP00000382830:G529D;ENSP00000386471:G467D;ENSP00000343631:G551D	ENSP00000343631:G551D	G	+	2	0	SPATA13	23774772	0.000000	0.05858	0.307000	0.25127	0.855000	0.48748	-0.033000	0.12246	-0.409000	0.07553	0.655000	0.94253	GGC	SPATA13	-	NULL	ENSG00000182957		0.612	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0	45	0	G	NM_153023		24876772	1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.445	A	A	24876772	G	A	24876772	3	1	58	1	0	0	0	0	1	0	0	0	15047	1203	42	3	3741	3	SPATA13	13	24876772	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	965921	24876772	90293106	1511	15894											
PABPC3	5042	genome.wustl.edu	37	chr13	25671275	25671275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaacgtctccggaaagcGttttctccatttggtacaat	10	13	9	9	3	2	1	0	1	2	0	4	3	2	2	2	2	3	2	2	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:25671275G>A	ENST00000281589.3	+	1	976	c.939G>A	c.(937-939)gcG>gcA	p.A313A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCGGAAAGCGTTTTCTCCAT	0.413																																																	0													215	215	215					13																	25671275		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"RNA binding motif (RRM) containing"	8556	protein-coding gene	gene with protein product	"testis PABP"	604680	"poly(A)-binding protein, cytoplasmic 3"	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.939G>A	13.37:g.25671275G>A			Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.A313	ENST00000281589.3	37	c.939	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.413	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	-	0	66	0	G	NM_030979		25671275	1	tier1	-	no_errors	ENST00000281589	ensembl	human	known	74_37	silent	20.25	62	16	SNP	0.996	A	A	25671275	G	A	25671275	2	1	58	1	0	0	0	0	0	0	0	1	11404	1132	40	1		1	PABPC3	13	25671275	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	794503	25671275	89498603	1512	15895											
MTMR6	9107	genome.wustl.edu	37	chr13	25831386	25831386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaataaaagagaacccaggGaacaaacctgggaagtccta	18	4	9	10	0	0	1	0	0	0	1	1	4	1	3	4	2	3	0	4	2	8	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:25831386G>T	ENST00000381801.5	-	9	1804	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y	MTMR6_ENST00000482345.1_5'Flank|MTMR6_ENST00000540661.1_Missense_Mutation_p.S348Y	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	348	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AGAACCCAGGGAACAAACCTG	0.383																																																	0													103	93	96					13																	25831386		2203	4300	6503	SO:0001583	missense	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1043C>A	13.37:g.25831386G>T	ENSP00000371221:p.Ser348Tyr		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.S348Y	ENST00000381801.5	37	c.1043	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752669	0.89753	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.96200	-3.94;-3.94	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	0.050500	0.85682	D	0.000000	D	0.98713	0.9568	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	D	0.99544	1.0964	10	0.87932	D	0	.	19.3809	0.94532	0.0:0.0:1.0:0.0	.	348;348	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	Y	348	ENSP00000443161:S348Y;ENSP00000371221:S348Y	ENSP00000371221:S348Y	S	-	2	0	MTMR6	24729386	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.807000	0.99171	2.573000	0.86826	0.650000	0.86243	TCC	MTMR6	-	smart_Tyr_Pase_cat	ENSG00000139505		0.383	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1	-	0	36	0	G	NM_004685		25831386	-1	tier1	-	no_errors	ENST00000381801	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	25831386	G	T	25831386	3	4	58	1	0	0	0	0	1	0	0	0	9985	1174	41	3	846	3	MTMR6	13	25831386	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	160111	25831386	89338492	1513	15896											
WASF3	10810	genome.wustl.edu	37	chr13	27259944	27259944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagtacagcgactctgacGacgactcagagttcgacgag	11	7	13	10	5	2	2	1	1	1	1	3	8	2	3	0	1	2	2	0	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:27259944G>A	ENST00000335327.5	+	10	1649	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	WASF3_ENST00000361042.4_Missense_Mutation_p.D488N	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	491					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGACTCTGACGACGACTCAGA	0.622																																																	0													96	76	83					13																	27259944		2203	4300	6503	SO:0001583	missense	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1471G>A	13.37:g.27259944G>A	ENSP00000335055:p.Asp491Asn		O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.D491N	ENST00000335327.5	37	c.1471	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516713	0.85495	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.61859	0.07;0.14	5.64	5.64	0.86602	.	0.043348	0.85682	D	0.000000	T	0.72463	0.3463	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.991	P;P	0.57911	0.829;0.627	T	0.74976	-0.3480	10	0.87932	D	0	-28.6354	19.6727	0.95916	0.0:0.0:1.0:0.0	.	488;491	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	N	488;491	ENSP00000354325:D488N;ENSP00000335055:D491N	ENSP00000335055:D491N	D	+	1	0	WASF3	26157944	1.000000	0.71417	0.698000	0.30274	0.651000	0.38670	9.282000	0.95840	2.645000	0.89757	0.561000	0.74099	GAC	WASF3	-	NULL	ENSG00000132970		0.622	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0	27	0	G			27259944	1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	A	A	27259944	G	A	27259944	3	1	58	1	0	0	0	0	1	0	0	0	17303	1058	37	1	1501	1	WASF3	13	27259944	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1428558	27259944	87909934	1514	15897											
CDX2	1045	genome.wustl.edu	37	chr13	28539139	28539139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accactcgatatttgtctttCgtcctggttttcactgtgga	6	17	8	10	2	2	0	1	0	1	0	5	2	3	1	2	2	0	1	2	2	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:28539139C>T	ENST00000381020.7	-	2	2687	c.555G>A	c.(553-555)acG>acA	p.T185T	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	185					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ATTTGTCTTTCGTCCTGGTTT	0.537			T	ETV6	AML																																			Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0													74	60	64					13																	28539139		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"Homeoboxes / ANTP class : HOXL subclass"	1806	protein-coding gene	gene with protein product		600297	"caudal type homeo box transcription factor 2"	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.555G>A	13.37:g.28539139C>T			O00503|Q5VTU7|Q969L8|Q9UD92	Silent	SNP	pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.T185	ENST00000381020.7	37	c.555	CCDS9328.1	13	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473454	0.26423	.	.	ENSG00000165556	ENST00000548877	.	.	.	5.68	1.48	0.22813	.	.	.	.	.	T	0.52289	0.1725	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43475	-0.9389	4	.	.	.	-35.2473	5.838	0.18617	0.1314:0.575:0.0:0.2936	.	.	.	.	Q	28	.	.	R	-	2	0	CDX2	27437139	0.194000	0.23325	1.000000	0.80357	0.998000	0.95712	-0.381000	0.07417	0.734000	0.32515	0.563000	0.77884	CGA	CDX2	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom	ENSG00000165556		0.537	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	-	0	84	0	C			28539139	-1	tier1	-	no_errors	ENST00000381020	ensembl	human	known	74_37	silent	49.06	54	52	SNP	0.998	T	T	28539139	C	T	28539139	2	4	58	1	0	0	0	0	0	0	0	1	3190	871	31	1		1	CDX2	13	28539139	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1279195	28539139	86630739	1515	15898											
FLT1	2321	genome.wustl.edu	37	chr13	28893668	28893668	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccatttcagaggaagtcGagtctagaagagggcaaggg	13	7	14	7	1	2	3	1	0	1	3	4	5	3	4	1	3	0	1	1	3	4	2	rs374452662		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:28893668G>A	ENST00000282397.4	-	24	3429	c.3178C>T	c.(3178-3180)Cga>Tga	p.R1060*	FLT1_ENST00000543394.1_Nonsense_Mutation_p.R83*|FLT1_ENST00000540678.1_Nonsense_Mutation_p.R278*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1060	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGAAGTCGAGTCTAGAAG	0.498																																																	0								G	stop/ARG	0,4406		0,0,2203	48	44	45		3178	5.5	1	13		45	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	FLT1	NM_002019.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1060/1339	28893668	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3178C>T	13.37:g.28893668G>A	ENSP00000282397:p.Arg1060*		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.R1060*	ENST00000282397.4	37	c.3178	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	38	6.913347	0.97932	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	.	.	.	X	1060;83;278	.	ENSP00000282397:R1060X	R	-	1	2	FLT1	27791668	1.000000	0.71417	0.957000	0.39632	0.588000	0.36517	6.586000	0.74067	2.746000	0.94184	0.655000	0.94253	CGA	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102755		0.498	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1		0	11	0	G			28893668	-1			no_errors	ENST00000282397	ensembl	human	known	74_37	nonsense	17.65	14	3	SNP	1.000	A	A	28893668	G	A	28893668	4	1	58	1	0	0	0	0	0	1	0	0	5963	1066	37	1	866	1	FLT1	13	28893668	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	354529	28893668	86276210	1516	15899											
HMGB1	3146	genome.wustl.edu	37	chr13	31035515	31035515	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcatcatcatcatcttcTtcttcatcttcatcttcttc	7	21	0	13	0	12	0	6	0	6	0	13	0	12	0	0	0	0	0	0	0	1	8	rs377691338		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:31035515T>A	ENST00000405805.1	-	5	1567	c.627A>T	c.(625-627)gaA>gaT	p.E209D	HMGB1_ENST00000339872.4_Missense_Mutation_p.E209D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E209D|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.E209D			P09429	HMGB1_HUMAN	high mobility group box 1	209	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CAtcatcttcttcttcatctt	0.383																																																	0								T	ASP/GLU	0,3780		0,0,1890	18	23	21		627	1.8	1	13		21	1,8251		0,1,4125	no	missense	HMGB1	NM_002128.4	45	0,1,6015	AA,AT,TT		0.0121,0.0,0.0083	benign	209/216	31035515	1,12031	1890	4126	6016	SO:0001583	missense	0			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"High-mobility group / Canonical"	4983	protein-coding gene	gene with protein product	"high mobility group box 1", "Sulfoglucuronyl carbohydrate binding protein", "Amphoterin", "high mobility group protein 1"	163905	"high-mobility group (nonhistone chromosomal) protein 1", "high-mobility group box 1"	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.627A>T	13.37:g.31035515T>A	ENSP00000384678:p.Glu209Asp		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E209D	ENST00000405805.1	37	c.627	CCDS9335.1	13	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865437	0.32977	0.0	1.21E-4	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.72	1.77	0.24775	Armadillo-like helical (1);	0.000000	0.44483	D	0.000444	T	0.40171	0.1106	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.13602	-1.0503	10	0.87932	D	0	.	4.1403	0.10189	0.257:0.1369:0.0:0.6061	.	170;209	B3KQ05;P09429	.;HMGB1_HUMAN	D	209	ENSP00000384678:E209D;ENSP00000343040:E209D;ENSP00000345347:E209D;ENSP00000382417:E209D	ENSP00000343040:E209D	E	-	3	2	HMGB1	29933515	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	0.047000	0.14056	0.069000	0.16605	0.519000	0.50382	GAA	HMGB1	-	NULL	ENSG00000189403		0.383	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB1	HGNC	protein_coding	OTTHUMT00000303998.2	-	0	30	0	T	NM_002128		31035515	-1	tier1	-	no_errors	ENST00000339872	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	A	A	31035515	T	A	31035515	3	1	58	1	0	0	0	0	1	0	0	0	7252	1606	56	5	24	5	HMGB1	13	31035515	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2141847	31035515	84134363	1517	15900											
HSPH1	10808	genome.wustl.edu	37	chr13	31722127	31722127	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggatatggaactccttgGggatcagaatagaaagcttc	12	11	11	7	0	2	2	1	0	1	2	4	5	3	5	1	4	2	1	1	4	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:31722127G>T	ENST00000320027.5	-	10	1691	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	HSPH1_ENST00000445273.2_Silent_p.P451P|HSPH1_ENST00000429785.2_Silent_p.P268P|HSPH1_ENST00000380405.4_Silent_p.P449P|HSPH1_ENST00000380406.5_Silent_p.P408P	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	449					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GAACTCCTTGGGGATCAGAAT	0.388																																																	0													151	172	165					13																	31722127		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1347C>A	13.37:g.31722127G>T			B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P451	ENST00000320027.5	37	c.1353	CCDS9340.1	13																																																																																			HSPH1	-	pfam_Hsp_70_fam	ENSG00000120694		0.388	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	-	0	33	0	G			31722127	-1	tier1	-	no_errors	ENST00000445273	ensembl	human	known	74_37	silent	12.50	56	8	SNP	0.037	T	T	31722127	G	T	31722127	2	4	58	1	0	0	0	0	0	0	0	1	7458	1219	43	3		3	HSPH1	13	31722127	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	686612	31722127	83447751	1518	15901											
BRCA2	675	genome.wustl.edu	37	chr13	32899266	32899266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgcacagtgaaaactaaaAtggatcaagcagatgatgtt	16	10	9	6	1	1	3	1	2	0	1	2	4	1	4	0	1	2	3	0	1	5	3	rs397507314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:32899266A>G	ENST00000380152.3	+	4	603	c.370A>G	c.(370-372)Atg>Gtg	p.M124V	BRCA2_ENST00000544455.1_Missense_Mutation_p.M124V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	124					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAAACTAAAATGGATCAAGC	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													89	87	87					13																	32899266		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.370A>G	13.37:g.32899266A>G	ENSP00000369497:p.Met124Val		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.M124V	ENST00000380152.3	37	c.370	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	A	8.704	0.910382	0.17833	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00651	5.97;5.97	5.84	-7.45	0.01374	.	1.046920	0.07397	N	0.890137	T	0.00468	0.0015	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.45920	-0.9228	10	0.11794	T	0.64	.	4.4614	0.11668	0.3025:0.0:0.3035:0.394	.	124;124	P51587;A1YBP1	BRCA2_HUMAN;.	V	124;124;122	ENSP00000369497:M124V;ENSP00000439902:M124V	ENSP00000369497:M124V	M	+	1	0	BRCA2	31797266	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.262000	0.02852	-0.807000	0.04393	-0.336000	0.08194	ATG	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	79	0	A	NM_000059		32899266	1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	57.89	48	66	SNP	0.000	G	G	32899266	A	G	32899266	3	3	58	1	0	0	0	0	1	0	0	0	1503	101	4	4	380	4	BRCA2	13	32899266	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1177139	32899266	82270612	1519	15902											
NBEA	26960	genome.wustl.edu	37	chr13	36026232	36026232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgttgtgattaggcaCggaagaagatgtagtaaagt	13	14	12	2	1	0	3	0	1	0	2	0	4	0	4	0	2	0	4	0	2	6	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:36026232C>T	ENST00000400445.3	+	40	6842	c.6308C>T	c.(6307-6309)aCg>aTg	p.T2103M	NBEA_ENST00000379939.2_Missense_Mutation_p.T2100M|NBEA_ENST00000540320.1_Missense_Mutation_p.T2103M|NBEA_ENST00000310336.4_Missense_Mutation_p.T2103M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2103					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGATTAGGCACGGAAGAAGAT	0.308																																																	0													75	70	71					13																	36026232		1864	4090	5954	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6308C>T	13.37:g.36026232C>T	ENSP00000383295:p.Thr2103Met		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T2103M	ENST00000400445.3	37	c.6308	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409523	0.42715	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.45	5.45	0.79879	Domain of unknown function DUF1088 (1);	1.356650	0.04269	N	0.341734	T	0.49133	0.1539	N	0.14661	0.345	0.80722	D	1	D;P	0.57571	0.98;0.939	P;P	0.53809	0.677;0.735	T	0.49943	-0.8885	10	0.59425	D	0.04	.	19.2813	0.94053	0.0:1.0:0.0:0.0	.	2103;2100	Q8NFP9;Q5T321	NBEA_HUMAN;.	M	2103;2103;2100;2103;730	ENSP00000440951:T2103M;ENSP00000383295:T2103M;ENSP00000369271:T2100M;ENSP00000308534:T2103M	ENSP00000308534:T2103M	T	+	2	0	NBEA	34924232	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	3.714000	0.54889	2.542000	0.85734	0.655000	0.94253	ACG	NBEA	-	pfam_DUF1088	ENSG00000172915		0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	25	0	C	NM_015678		36026232	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	T	T	36026232	C	T	36026232	3	4	58	1	0	0	0	0	1	0	0	0	10225	536	19	1	6466	1	NBEA	13	36026232	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3126966	36026232	79143646	1520	15903											
POSTN	10631	genome.wustl.edu	37	chr13	38164539	38164539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcccaagcctcattactCggtgcaaagtaagtgaagga	12	10	10	9	1	1	1	1	1	0	0	3	2	2	2	2	2	3	2	2	2	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:38164539C>T	ENST00000379747.4	-	4	528	c.411G>A	c.(409-411)ccG>ccA	p.P137P	POSTN_ENST00000379743.4_Silent_p.P137P|POSTN_ENST00000379742.4_Silent_p.P137P|POSTN_ENST00000541481.1_Silent_p.P137P|POSTN_ENST00000541179.1_Silent_p.P137P|POSTN_ENST00000379749.4_Silent_p.P137P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	137	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTCATTACTCGGTGCAAAGT	0.403																																																	0													106	89	95					13																	38164539		2202	4300	6502	SO:0001819	synonymous_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.411G>A	13.37:g.38164539C>T			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.P137	ENST00000379747.4	37	c.411	CCDS9364.1	13																																																																																			POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.403	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	38	0	C	NM_006475		38164539	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	silent	19.61	41	10	SNP	0.778	T	T	38164539	C	T	38164539	2	4	58	1	0	0	0	0	0	0	0	1	12298	871	31	1		1	POSTN	13	38164539	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2138307	38164539	77005339	1521	15904											
FREM2	341640	genome.wustl.edu	37	chr13	39432168	39432168	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatcctgtcatctgtatcAcagtgagtaggagattcaca	11	12	9	9	0	4	2	3	1	1	1	5	3	5	2	1	1	0	3	1	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:39432168A>C	ENST00000280481.7	+	13	7429	c.7213A>C	c.(7213-7215)Aca>Cca	p.T2405P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2405					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATCTGTATCACAGTGAGTAG	0.358																																																	0													147	127	134					13																	39432168		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7213A>C	13.37:g.39432168A>C	ENSP00000280481:p.Thr2405Pro		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.T2405P	ENST00000280481.7	37	c.7213	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865617	0.91511	.	.	ENSG00000150893	ENST00000280481	D	0.81821	-1.54	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89733	0.6800	M	0.88842	2.985	0.80722	D	1	D;D	0.60160	0.987;0.96	P;P	0.58013	0.831;0.682	D	0.91725	0.5392	10	0.87932	D	0	.	16.0869	0.81060	1.0:0.0:0.0:0.0	.	2405;2405	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	P	2405	ENSP00000280481:T2405P	ENSP00000280481:T2405P	T	+	1	0	FREM2	38330168	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	6.230000	0.72301	2.200000	0.70718	0.533000	0.62120	ACA	FREM2	-	NULL	ENSG00000150893		0.358	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	78	0	A	NM_207361		39432168	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	24.37	90	29	SNP	1.000	C	C	39432168	A	C	39432168	3	2	58	1	0	0	0	0	1	0	0	0	6069	159	6	4	7263	4	FREM2	13	39432168	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1267629	39432168	75737710	1522	15905											
C13orf23	80209	genome.wustl.edu	37	chr13	39586344	39586344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctggaaaaacagaactgCctgcagcttgaagtccagat	13	7	11	10	0	0	3	0	1	0	2	1	4	1	4	3	2	5	2	3	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:39586344C>A	ENST00000352251.3	-	12	3421	c.2588G>T	c.(2587-2589)gGc>gTc	p.G863V	PROSER1_ENST00000350125.3_Missense_Mutation_p.G841V|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	863																	AACAGAACTGCCTGCAGCTTG	0.408																																																	0													129	146	140					13																	39586344		2203	4300	6503	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2588G>T	13.37:g.39586344C>A	ENSP00000332034:p.Gly863Val		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.G863V	ENST00000352251.3	37	c.2588	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987293	0.74589	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.52754	0.65;0.65	5.96	5.96	0.96718	.	.	.	.	.	T	0.44159	0.1280	N	0.24115	0.695	0.80722	D	1	D;P	0.55800	0.973;0.928	P;B	0.53313	0.723;0.44	T	0.20405	-1.0276	8	.	.	.	-0.454	11.3058	0.49334	0.0:0.9174:0.0:0.0826	.	841;863	A6NJ97;Q86XN7	.;PRSR1_HUMAN	V	863;841	ENSP00000332034:G863V;ENSP00000339123:G841V	.	G	-	2	0	PROSER1	38484344	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.849000	0.69465	2.821000	0.97095	0.650000	0.86243	GGC	PROSER1	-	NULL	ENSG00000120685		0.408	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0	19	0	C	NM_025138		39586344	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	A	A	39586344	C	A	39586344	3	1	58	1	0	0	0	0	1	0	0	0	1726	739	26	3	254	3	C13orf23	13	39586344	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	154176	39586344	75583534	1523	15906											
KIAA1704	55425	genome.wustl.edu	37	chr13	45602078	45602078	+	Frame_Shift_Del	DEL	A	A	-																															gctcagaaaaaagccctaatAaaaaaatctagagaactaaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:45602078delA	ENST00000379151.4	+	8	1066	c.963delA	c.(961-963)atafs	p.I321fs	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Frame_Shift_Del_p.I321fs|GPALPP1_ENST00000357537.3_Frame_Shift_Del_p.I151fs	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	321																	AAGCCCTAATAAAAAAATCTA	0.328																																																	0													65	77	73					13																	45602078		2203	4299	6502	SO:0001589	frameshift_variant	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.963delA	13.37:g.45602078delA	ENSP00000368447:p.Ile321fs		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Frame_Shift_Del	DEL	pfam_DUF3752	p.K323fs	ENST00000379151.4	37	c.963	CCDS9394.1	13																																																																																			GPALPP1	-	pfam_DUF3752	ENSG00000133114		0.328	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	HGNC	protein_coding	OTTHUMT00000044749.2		0	70	0	A	NM_018559		45602078	1	tier1		no_errors	ENST00000361121	ensembl	human	known	74_37	frame_shift_del	9.23	118	12	DEL	1.000	-	-	45602078	A	-	45602078	7	5	58	1	0	1	0	1	0	0	0	0	8279	352	13	0	993	0	KIAA1704	13	45602078	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	6015734	45602078	69567800	1524	15907											
SIAH3	283514	genome.wustl.edu	37	chr13	46425732	46425732	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggagatgaatgagatctaaTacagccccaaagcactgggt	14	7	11	9	1	1	3	0	2	1	2	1	5	1	3	2	2	3	1	2	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:46425732T>C	ENST00000400405.2	-	1	139	c.33A>G	c.(31-33)gtA>gtG	p.V11V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	11					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGAGATCTAATACAGCCCCAA	0.527																																																	0													75	84	81					13																	46425732		2014	4175	6189	SO:0001819	synonymous_variant	0				CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"seven in absentia homolog 3 (Drosophila)"			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.33A>G	13.37:g.46425732T>C			B7ZBP0|Q8N8M6	Silent	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like	p.V11	ENST00000400405.2	37	c.33	CCDS41883.1	13																																																																																			SIAH3	-	NULL	ENSG00000215475		0.527	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAH3	HGNC	protein_coding	OTTHUMT00000044788.2	-	0	60	0	T	NM_198849		46425732	-1	tier1	-	no_errors	ENST00000400405	ensembl	human	known	74_37	silent	28.12	46	18	SNP	1.000	C	C	46425732	T	C	46425732	2	2	58	1	0	0	0	0	0	0	0	1	14346	1393	49	4		4	SIAH3	13	46425732	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	823654	46425732	68744146	1525	15908											
C13orf18	80183	genome.wustl.edu	37	chr13	46946506	46946506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggcaaggaggatggtcAgtgttcaggagtctgggcga	10	9	17	5	1	3	0	2	0	1	0	3	4	3	3	0	6	0	2	0	6	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:46946506A>G	ENST00000429979.1	-	3	709	c.105T>C	c.(103-105)acT>acC	p.T35T	KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Silent_p.T35T|KIAA0226L_ENST00000378781.3_Silent_p.T35T|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Silent_p.T35T|KIAA0226L_ENST00000378787.3_Silent_p.T35T|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000480935.1_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	35										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAGGATGGTCAGTGTTCAGGA	0.527																																																	0													69	58	62					13																	46946506		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.105T>C	13.37:g.46946506A>G			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	NULL	p.T35	ENST00000429979.1	37	c.105	CCDS31970.2	13																																																																																			KIAA0226L	-	NULL	ENSG00000102445		0.527	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	-	0	119	0	A	NM_025113		46946506	-1	tier1	-	no_errors	ENST00000389908	ensembl	human	known	74_37	silent	28.47	98	39	SNP	0.000	G	G	46946506	A	G	46946506	2	3	58	1	0	0	0	0	0	0	0	1	1725	175	7	4		4	C13orf18	13	46946506	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	520774	46946506	68223372	1526	15909											
RB1	5925	genome.wustl.edu	37	chr13	48916752	48916752	+	Silent	SNP	G	G	A																															cagggaggttatattcaaaaGaaaaaggaactgtggggaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:48916752G>A	ENST00000267163.4	+	3	420	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	94					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ATATTCAAAAGAAAAAGGAAC	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	20	Whole gene deletion(15)|Unknown(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											78	88	85					13																	48916752		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.282G>A	13.37:g.48916752G>A			A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.K94	ENST00000267163.4	37	c.282	CCDS31973.1	13																																																																																			RB1	-	superfamily_Cyclin-like	ENSG00000139687		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0	62	0	G			48916752	1			no_errors	ENST00000267163	ensembl	human	known	74_37	silent	7.07	90	7	SNP	1.000	A	A	48916752	G	A	48916752	2	1	58	1	0	0	0	0	0	0	0	1	13143	933	33	3		3	RB1	13	48916752	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1970246	48916752	66253126	1527	15910	65	2									
RB1	5925	genome.wustl.edu	37	chr13	48916753	48916753	+	Frame_Shift_Del	DEL	A	A	-																															agggaggttatattcaaaagAaaaaggaactgtggggaatc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:48916753delA	ENST00000267163.4	+	3	421	c.283delA	c.(283-285)aaafs	p.K96fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	96					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TATTCAAAAGAAAAAGGAACT	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	20	Whole gene deletion(15)|Unknown(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM061928	RB1	M							79	89	86					13																	48916753		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.283delA	13.37:g.48916753delA	ENSP00000267163:p.Lys96fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.K96fs	ENST00000267163.4	37	c.283	CCDS31973.1	13																																																																																			RB1	-	superfamily_Cyclin-like	ENSG00000139687		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0	63	0	A			48916753	1	tier1		no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	47.00	53	47	DEL	1.000	-	-	48916753	A	-	48916753	7	5	58	1	0	1	0	1	0	0	0	0	13143	247	9	0	293	0	RB1	13	48916753	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1	48916753	66253125	1528	15911	65	2									
RB1	5925	genome.wustl.edu	37	chr13	48955496	48955496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcgaaagttttatcaaaGcagaaggcaacttgacaaga	17	9	9	6	1	1	4	1	2	0	2	2	5	1	4	0	1	2	3	0	1	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:48955496G>T	ENST00000267163.4	+	17	1750	c.1612G>T	c.(1612-1614)Gca>Tca	p.A538S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	538	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	TTTTATCAAAGCAGAAGGCAA	0.343		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											75	70	72					13																	48955496		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1612G>T	13.37:g.48955496G>T	ENSP00000267163:p.Ala538Ser		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A538S	ENST00000267163.4	37	c.1612	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141256	0.57044	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.87571	-2.27	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.116434	0.64402	D	0.000019	D	0.86732	0.6003	L	0.33093	0.98	0.52099	D	0.999948	B	0.27229	0.172	B	0.41412	0.356	D	0.83383	0.0013	10	0.36615	T	0.2	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	538	P06400	RB_HUMAN	S	517;538	ENSP00000267163:A538S	ENSP00000267163:A538S	A	+	1	0	RB1	47853497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.488000	0.83962	0.650000	0.86243	GCA	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	-	0	30	0	G			48955496	1	tier1	-	no_errors	ENST00000267163	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	48955496	G	T	48955496	3	4	58	1	0	0	0	0	1	0	0	0	13143	971	34	3	1678	3	RB1	13	48955496	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	38743	48955496	66214382	1529	15912											
RCBTB2	1102	genome.wustl.edu	37	chr13	49085916	49085916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgtaccctctggacaCggatgccttgcaaagctgcc	8	8	12	13	2	1	0	0	0	1	0	1	3	1	3	3	3	5	3	3	3	2	2	rs371016980		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:49085916C>T	ENST00000344532.3	-	9	1196	c.773G>A	c.(772-774)cGt>cAt	p.R258H	RCBTB2_ENST00000430805.2_Missense_Mutation_p.R263H|RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R234H|RCBTB2_ENST00000544492.1_Missense_Mutation_p.V32M	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	258					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CCTCTGGACACGGATGCCTTG	0.493																																																	0													74	63	67					13																	49085916		2203	4300	6503	SO:0001583	missense	0			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"BTB/POZ domain containing"	1914	protein-coding gene	gene with protein product		603524	"chromosome condensation 1-like"	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.773G>A	13.37:g.49085916C>T	ENSP00000345144:p.Arg258His		B2RDW8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R263H	ENST00000344532.3	37	c.788	CCDS9411.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.845700|2.845700	0.51164|0.51164	.|.	.|.	ENSG00000136161|ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904|ENST00000544492	D;D;D|T	0.86297|0.80393	-2.1;-2.1;-2.1|-1.37	5.98|5.98	3.36|3.36	0.38483|0.38483	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.182363|.	0.64402|.	N|.	0.000012|.	T|T	0.65698|0.65698	0.2716|0.2716	N|N	0.17838|0.17838	0.53|0.53	0.41969|0.41969	D|D	0.990743|0.990743	B;D;B;D|B	0.55800|0.09022	0.004;0.973;0.004;0.969|0.002	B;P;B;P|B	0.54372|0.04013	0.005;0.75;0.005;0.75|0.001	T|T	0.53746|0.53746	-0.8395|-0.8395	10|9	0.21014|0.19147	T|T	0.42|0.46	.|.	11.4687|11.4687	0.50254|0.50254	0.0:0.8056:0.0:0.1944|0.0:0.8056:0.0:0.1944	.|.	234;263;262;258|32	B4DPP7;B4DWG0;B3KVB1;O95199|B4E372	.;.;.;RCBT2_HUMAN|.	H|M	258;262;263;263;234|32	ENSP00000345144:R258H;ENSP00000389910:R263H;ENSP00000443904:R234H|ENSP00000443862:V32M	ENSP00000345144:R258H|ENSP00000443862:V32M	R|V	-|-	2|1	0|0	RCBTB2|RCBTB2	47983917|47983917	0.999000|0.999000	0.42202|0.42202	0.936000|0.936000	0.37596|0.37596	0.875000|0.875000	0.50365|0.50365	3.681000|3.681000	0.54648|0.54648	0.443000|0.443000	0.26582|0.26582	-0.229000|-0.229000	0.12294|0.12294	CGT|GTG	RCBTB2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000136161		0.493	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	-	0	40	0	C	NM_001268		49085916	-1	tier1	-	no_errors	ENST00000430805	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.980	T	T	49085916	C	T	49085916	3	4	58	1	0	0	0	0	1	0	0	0	13217	536	19	1	910	1	RCBTB2	13	49085916	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	130420	49085916	66083962	1530	15913											
KPNA3	3839	genome.wustl.edu	37	chr13	50279819	50279819	+	Frame_Shift_Del	DEL	T	T	-																															caccggccattatcagaatgTtttttagaccatctagaacc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:50279819delT	ENST00000261667.3	-	15	1724	c.1310delA	c.(1309-1311)aacfs	p.N437fs		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	437					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TATCAGAATGTTTTTTAGACC	0.398																																																	0													215	197	203					13																	50279819		2203	4300	6503	SO:0001589	frameshift_variant	0			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1310delA	13.37:g.50279819delT	ENSP00000261667:p.Asn437fs		O00191|O43195|Q5JVM9|Q96AA7	Frame_Shift_Del	DEL	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N437fs	ENST00000261667.3	37	c.1310	CCDS9421.1	13																																																																																			KPNA3	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000102753		0.398	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2		0	61	0	T	NM_002267		50279819	-1	tier1		no_errors	ENST00000261667	ensembl	human	known	74_37	frame_shift_del	44.44	65	52	DEL	1.000	-	-	50279819	T	-	50279819	7	5	58	1	0	1	0	1	0	0	0	0	8458	1725	60	0	267	0	KPNA3	13	50279819	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	1193903	50279819	64890059	1531	15914											
FAM124A	220108	genome.wustl.edu	37	chr13	51825749	51825749	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgctgttccgggtgtcCgagaggcgggcgtcccggcg	2	7	17	15	7	0	1	0	0	0	1	4	2	4	1	4	4	0	2	4	4	0	1	rs369389901		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:51825749C>T	ENST00000322475.8	+	3	381	c.246C>T	c.(244-246)tcC>tcT	p.S82S	FAM124A_ENST00000280057.6_Silent_p.S118S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	82										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TCCGGGTGTCCGAGAGGCGGG	0.692																																																	0													12	13	13					13																	51825749		2196	4285	6481	SO:0001819	synonymous_variant	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.246C>T	13.37:g.51825749C>T			A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	NULL	p.S118	ENST00000322475.8	37	c.354	CCDS55900.1	13																																																																																			FAM124A	-	NULL	ENSG00000150510		0.692	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	-	0	21	0	C	NM_145019		51825749	1	tier1	-	no_errors	ENST00000280057	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.001	T	T	51825749	C	T	51825749	2	4	58	1	0	0	0	0	0	0	0	1	5444	639	23	1		1	FAM124A	13	51825749	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1545930	51825749	63344129	1532	15915											
PCDH17	27253	genome.wustl.edu	37	chr13	58207948	58207948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactacgacaacttctacaCggtggtgactgaccgcccgc	10	7	10	14	4	1	2	0	2	1	0	1	4	1	2	2	2	4	0	2	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:58207948C>T	ENST00000377918.3	+	1	1294	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACTTCTACACGGTGGTGACT	0.682																																					Melanoma(72;952 1291 1619 12849 33676)												0													27	20	22					13																	58207948		2193	4281	6474	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1268C>T	13.37:g.58207948C>T	ENSP00000367151:p.Thr423Met		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T423M	ENST00000377918.3	37	c.1268	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242237	0.39598	.	.	ENSG00000118946	ENST00000377918	T	0.20598	2.06	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.55834	1.745	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06481	-1.0824	9	.	.	.	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	423;423	O14917-2;O14917	.;PCD17_HUMAN	M	423	ENSP00000367151:T423M	.	T	+	2	0	PCDH17	57105949	1.000000	0.71417	0.979000	0.43373	0.174000	0.22865	6.086000	0.71352	2.704000	0.92352	0.650000	0.86243	ACG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	52	0	C	NM_001040429		58207948	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	22.39	52	15	SNP	1.000	T	T	58207948	C	T	58207948	3	4	58	1	0	0	0	0	1	0	0	0	11551	536	19	1	1270	1	PCDH17	13	58207948	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6382199	58207948	56961930	1533	15916											
PCDH17	27253	genome.wustl.edu	37	chr13	58208562	58208562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtctcacctacgagatcGtggacggcaacgacgaccac	10	5	12	14	6	1	1	1	0	1	1	3	5	1	2	2	3	2	1	2	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:58208562G>T	ENST00000377918.3	+	1	1908	c.1882G>T	c.(1882-1884)Gtg>Ttg	p.V628L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACGAGATCGTGGACGGCAA	0.662																																					Melanoma(72;952 1291 1619 12849 33676)												0													73	70	71					13																	58208562		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1882G>T	13.37:g.58208562G>T	ENSP00000367151:p.Val628Leu		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V628L	ENST00000377918.3	37	c.1882	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796966	0.16327	.	.	ENSG00000118946	ENST00000377918	T	0.43294	0.95	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.119643	0.56097	D	0.000021	T	0.30417	0.0764	N	0.11154	0.105	0.39656	D	0.970536	P;B	0.36282	0.546;0.396	B;B	0.39465	0.3;0.231	T	0.11891	-1.0569	9	.	.	.	.	19.4011	0.94630	0.0:0.0:1.0:0.0	.	628;628	O14917-2;O14917	.;PCD17_HUMAN	L	628	ENSP00000367151:V628L	.	V	+	1	0	PCDH17	57106563	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.149000	0.64863	2.588000	0.87417	0.561000	0.74099	GTG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1		0	22	0	G	NM_001040429		58208562	1			no_errors	ENST00000377918	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	58208562	G	T	58208562	3	4	58	1	0	0	0	0	1	0	0	0	11551	1145	40	2	1884	2	PCDH17	13	58208562	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	614	58208562	56961316	1534	15917											
PCDH9	5101	genome.wustl.edu	37	chr13	67800478	67800478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatccactgcaaaaacttCtgctaccacggagccaggaa	15	6	7	13	1	1	0	0	0	1	0	2	2	2	2	3	2	6	2	3	2	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:67800478C>T	ENST00000377865.2	-	1	2229	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	PCDH9_ENST00000544246.1_Missense_Mutation_p.E699K|PCDH9_ENST00000328454.5_Missense_Mutation_p.E699K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E699K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E699K			Q9HC56	PCDH9_HUMAN	protocadherin 9	699	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAAAAACTTCTGCTACCACG	0.443																																																	0													92	95	94					13																	67800478		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2095G>A	13.37:g.67800478C>T	ENSP00000367096:p.Glu699Lys		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E699K	ENST00000377865.2	37	c.2095	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647674	0.47258	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	N	0.00112	-2.095	0.80722	D	1	B;B;B;B	0.15930	0.015;0.009;0.012;0.015	B;B;B;B	0.22601	0.04;0.017;0.01;0.017	T	0.41592	-0.9500	10	0.09338	T	0.73	.	19.3757	0.94508	0.0:1.0:0.0:0.0	.	699;699;699;699	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	699	ENSP00000442186:E699K;ENSP00000367096:E699K;ENSP00000401699:E699K;ENSP00000332060:E699K;ENSP00000367092:E699K	ENSP00000332060:E699K	E	-	1	0	PCDH9	66698479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.814000	0.96858	0.655000	0.94253	GAA	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000184226		0.443	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	68	0	C	NM_203487		67800478	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	26.39	53	19	SNP	1.000	T	T	67800478	C	T	67800478	3	4	58	1	0	0	0	0	1	0	0	0	11557	922	32	3	1634	3	PCDH9	13	67800478	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	9591916	67800478	47369400	1535	15918											
NDFIP2	54602	genome.wustl.edu	37	chr13	80117695	80117695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtttctgttgcttttagtgGcatttattttcaactggctt	5	21	9	6	0	2	0	1	0	1	0	2	0	2	0	0	3	2	5	0	3	3	9			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:80117695G>A	ENST00000218652.7	+	5	770	c.718G>A	c.(718-720)Gca>Aca	p.A240T		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	240					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GCTTTTAGTGGCATTTATTTT	0.358																																																	0													238	223	228					13																	80117695		2203	4300	6503	SO:0001583	missense	0			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.718G>A	13.37:g.80117695G>A	ENSP00000218652:p.Ala240Thr		Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	pfam_NEDD4/BSD2	p.A240T	ENST00000218652.7	37	c.718	CCDS31998.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.332181	0.95733	.	.	ENSG00000102471	ENST00000218652	T	0.54279	0.58	5.84	5.84	0.93424	.	0.153368	0.64402	D	0.000020	T	0.75547	0.3864	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77035	-0.2737	10	0.87932	D	0	-1.5682	20.157	0.98115	0.0:0.0:1.0:0.0	.	240	Q9NV92	NFIP2_HUMAN	T	240	ENSP00000218652:A240T	ENSP00000218652:A240T	A	+	1	0	NDFIP2	79015696	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.337000	0.96545	2.768000	0.95171	0.650000	0.86243	GCA	NDFIP2	-	pfam_NEDD4/BSD2	ENSG00000102471		0.358	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP2	HGNC	protein_coding	OTTHUMT00000045380.2	-	0	75	0	G			80117695	1	tier1	-	no_errors	ENST00000218652	ensembl	human	known	74_37	missense	54.40	57	68	SNP	1.000	A	A	80117695	G	A	80117695	3	1	58	1	0	0	0	0	1	0	0	0	10285	1203	42	3	736	3	NDFIP2	13	80117695	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	12317217	80117695	35052183	1536	15919											
SLITRK5	26050	genome.wustl.edu	37	chr13	88328551	88328551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgcctttgagcaccaCggggtatttacacaccaccc	10	7	9	15	2	0	2	0	1	0	1	0	2	0	2	4	2	2	3	4	2	2	4	rs113077003		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:88328551C>T	ENST00000325089.6	+	2	1127	c.908C>T	c.(907-909)aCg>aTg	p.T303M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T62M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	303					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGAGCACCACGGGGTATTTA	0.537																																																	0													64	71	69					13																	88328551		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.908C>T	13.37:g.88328551C>T	ENSP00000366283:p.Thr303Met		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T303M	ENST00000325089.6	37	c.908	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085034	0.36758	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	.	0.172916	0.48767	D	0.000169	T	0.36468	0.0968	N	0.08118	0	0.35042	D	0.759848	D;B	0.71674	0.998;0.067	P;B	0.57204	0.815;0.018	T	0.44498	-0.9324	9	.	.	.	-10.9403	13.101	0.59219	0.0:0.8391:0.1609:0.0	.	62;303	B4DSH5;O94991	.;SLIK5_HUMAN	M	303;62	ENSP00000366283:T303M;ENSP00000442244:T62M	.	T	+	2	0	SLITRK5	87126552	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.221000	0.51215	2.724000	0.93272	0.491000	0.48974	ACG	SLITRK5	-	NULL	ENSG00000165300		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	52	0	C			88328551	1	tier1	rs113077003	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	50.00	30	30	SNP	1.000	T	T	88328551	C	T	88328551	3	4	58	1	0	0	0	0	1	0	0	0	14791	536	19	1	910	1	SLITRK5	13	88328551	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8210856	88328551	26841327	1537	15920											
SOX21	11166	genome.wustl.edu	37	chr13	95364174	95364174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcagtttccactcggCgcccaagcgcttgctgatct	6	11	11	13	3	1	2	0	2	1	0	3	2	2	2	2	1	3	4	2	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:95364174C>G	ENST00000376945.2	-	1	215	c.130G>C	c.(130-132)Gcc>Ccc	p.A44P	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	44					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					TTCCACTCGGCGCCCAAGCGC	0.612																																																	0													86	86	86					13																	95364174		2203	4300	6503	SO:0001583	missense	0			AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"SRY (sex determining region Y)-boxes"	11197	protein-coding gene	gene with protein product	"SRY-box 21"	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.130G>C	13.37:g.95364174C>G	ENSP00000366144:p.Ala44Pro		P35715|Q15504|Q5TBS1	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_Antifreeze_1	p.A44P	ENST00000376945.2	37	c.130	CCDS9473.1	13	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851079	0.51270	.	.	ENSG00000125285	ENST00000376945	D	0.98120	-4.73	3.31	2.43	0.29744	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000002	D	0.98798	0.9595	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99050	1.0827	10	0.87932	D	0	.	11.4062	0.49900	0.1829:0.8171:0.0:0.0	.	44	Q9Y651	SOX21_HUMAN	P	44	ENSP00000366144:A44P	ENSP00000366144:A44P	A	-	1	0	SOX21	94162175	1.000000	0.71417	0.997000	0.53966	0.182000	0.23217	7.362000	0.79507	0.461000	0.27071	0.491000	0.48974	GCC	SOX21	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000125285		0.612	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX21	HGNC	protein_coding	OTTHUMT00000045467.4	-	0	77	0	C	NM_007084		95364174	-1	tier1	-	no_errors	ENST00000376945	ensembl	human	known	74_37	missense	22.33	80	23	SNP	1.000	G	G	95364174	C	G	95364174	3	3	58	1	0	0	0	0	1	0	0	0	14995	768	27	5	704	5	SOX21	13	95364174	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	7035623	95364174	19805704	1538	15921											
FARP1	10160	genome.wustl.edu	37	chr13	99047581	99047581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtttccgccggggagcCggggtcgcacccgagccctg	5	5	17	14	5	0	0	0	0	0	0	2	3	1	1	5	5	2	2	5	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99047581C>T	ENST00000319562.6	+	13	1530	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	FARP1_ENST00000376586.2_Missense_Mutation_p.P422L|FARP1_ENST00000595437.1_Missense_Mutation_p.P422L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	422					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCGGGGAGCCGGGGTCGCAC	0.677																																																	0													17	24	22					13																	99047581		2199	4289	6488	SO:0001583	missense	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1265C>T	13.37:g.99047581C>T	ENSP00000322926:p.Pro422Leu		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.P422L	ENST00000319562.6	37	c.1265	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809422	0.31961	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.78816	-1.21;-1.02	4.8	1.01	0.19927	.	1.926330	0.02497	N	0.090116	T	0.67040	0.2851	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.49331	-0.8951	10	0.29301	T	0.29	.	9.3625	0.38203	0.0:0.6033:0.2548:0.1419	.	422;422	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	422;127;422	ENSP00000365771:P422L;ENSP00000322926:P422L	ENSP00000322926:P422L	P	+	2	0	FARP1	97845582	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.196000	0.17176	-0.141000	0.11374	0.462000	0.41574	CCG	FARP1	-	NULL	ENSG00000152767		0.677	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	35	0	C	NM_005766		99047581	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.000	T	T	99047581	C	T	99047581	3	4	58	1	0	0	0	0	1	0	0	0	5698	652	23	1	1534	1	FARP1	13	99047581	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3683407	99047581	16122297	1539	15922											
DOCK9	23348	genome.wustl.edu	37	chr13	99502312	99502312	+	Frame_Shift_Del	DEL	A	A	-																															gctacttactcagatattgtAaaaaaatccataagttcaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99502312delA	ENST00000376460.1	-	36	4082	c.4002delT	c.(4000-4002)tttfs	p.F1334fs	DOCK9_ENST00000448493.2_Frame_Shift_Del_p.F1346fs|DOCK9_ENST00000339416.2_Frame_Shift_Del_p.F1335fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1335					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGATATTGTAAAAAAATCCA	0.318																																																	0													79	79	79					13																	99502312		1818	4064	5882	SO:0001589	frameshift_variant	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4002delT	13.37:g.99502312delA	ENSP00000365643:p.Phe1334fs		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F1335fs	ENST00000376460.1	37	c.4005	CCDS45062.1	13																																																																																			DOCK9	-	superfamily_ARM-type_fold	ENSG00000088387		0.318	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1		0	27	0	A	NM_015296		99502312	-1	tier1		no_errors	ENST00000339416	ensembl	human	known	74_37	frame_shift_del	20.69	46	12	DEL	1.000	-	-	99502312	A	-	99502312	7	5	58	1	0	1	0	1	0	0	0	0	4708	359	13	0	2284	0	DOCK9	13	99502312	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	454731	99502312	15667566	1540	15923											
GPR18	2841	genome.wustl.edu	37	chr13	99907471	99907471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggtttcagcttagacGtcctgccgtgaaggagatta	8	13	12	8	2	1	3	1	1	0	2	2	4	2	3	2	2	2	2	2	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99907471G>A	ENST00000340807.3	-	3	1212	c.656C>T	c.(655-657)aCg>aTg	p.T219M	GPR18_ENST00000397470.2_Missense_Mutation_p.T219M|GPR18_ENST00000397473.2_Missense_Mutation_p.T219M|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	219					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CAGCTTAGACGTCCTGCCGTG	0.453																																																	0													161	129	139					13																	99907471		2203	4300	6503	SO:0001583	missense	0			L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"GPCR / Class A : Orphans"	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.656C>T	13.37:g.99907471G>A	ENSP00000343428:p.Thr219Met		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T219M	ENST00000340807.3	37	c.656	CCDS9491.1	13	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055015	0.75960	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.38401	1.14;1.14;1.14	5.88	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.051693	0.85682	D	0.000000	T	0.59321	0.2185	M	0.76328	2.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	T	0.59101	-0.7517	9	.	.	.	-21.414	15.8286	0.78733	0.0:0.0:0.8635:0.1365	.	219	Q14330	GPR18_HUMAN	M	219	ENSP00000380613:T219M;ENSP00000380610:T219M;ENSP00000343428:T219M	.	T	-	2	0	GPR18	98705472	1.000000	0.71417	0.823000	0.32752	0.939000	0.58152	7.555000	0.82223	2.780000	0.95670	0.655000	0.94253	ACG	GPR18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000125245		0.453	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR18	HGNC	protein_coding	OTTHUMT00000045585.1	-	0	60	0	G			99907471	-1	tier1	-	no_errors	ENST00000340807	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	A	A	99907471	G	A	99907471	3	1	58	1	0	0	0	0	1	0	0	0	6701	1145	40	1	343	1	GPR18	13	99907471	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	405159	99907471	15262407	1541	15924											
GPR183	1880	genome.wustl.edu	37	chr13	99947438	99947438	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttgccgtttcagcatcCtcataacctttctcttatac	8	16	4	13	1	3	1	2	1	1	0	5	1	4	1	3	0	4	2	3	0	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99947438C>A	ENST00000376414.4	-	2	1045	c.962G>T	c.(961-963)aGg>aTg	p.R321M	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	321					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TTTCAGCATCCTCATAACCTT	0.403																																																	0													129	119	122					13																	99947438		2203	4300	6503	SO:0001583	missense	0			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.962G>T	13.37:g.99947438C>A	ENSP00000365596:p.Arg321Met		B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R321M	ENST00000376414.4	37	c.962	CCDS9492.1	13	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263896	0.39995	.	.	ENSG00000169508	ENST00000376414	T	0.24151	1.87	5.91	0.805	0.18703	.	0.099312	0.64402	D	0.000002	T	0.10895	0.0266	N	0.19112	0.55	0.33966	D	0.646239	P	0.45348	0.856	B	0.35899	0.213	T	0.32903	-0.9889	9	.	.	.	.	5.4645	0.16635	0.1176:0.1951:0.0:0.6873	.	321	P32249	GP183_HUMAN	M	321	ENSP00000365596:R321M	.	R	-	2	0	GPR183	98745439	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.969000	0.56816	-0.062000	0.13088	-1.093000	0.02169	AGG	GPR183	-	pfam_7TM_GPCR_olfarory/Srsx	ENSG00000169508		0.403	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	HGNC	protein_coding	OTTHUMT00000045582.2	-	0	84	0	C	NM_004951		99947438	-1	tier1	-	no_errors	ENST00000376414	ensembl	human	known	74_37	missense	20.75	84	22	SNP	1.000	A	A	99947438	C	A	99947438	3	1	58	1	0	0	0	0	1	0	0	0	6704	681	24	3	127	3	GPR183	13	99947438	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	39967	99947438	15222440	1542	15925											
TM9SF2	9375	genome.wustl.edu	37	chr13	100181733	100181735	+	In_Frame_Del	DEL	AAG	AAG	-																															taatacagtttacgtttaatAagaaggagacctgtaagctt																								rs148671822		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:100181733_100181735delAAG	ENST00000376387.4	+	4	536_538	c.346_348delAAG	c.(346-348)aagdel	p.K117del	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	117					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TACGTTTAATAAGAAGGAGACCT	0.31																																																	0																																										SO:0001651	inframe_deletion	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.346_348delAAG	13.37:g.100181736_100181738delAAG	ENSP00000365567:p.Lys117del		A8K399|Q2TAY5	In_Frame_Del	DEL	pfam_EMP70	p.K117in_frame_del	ENST00000376387.4	37	c.346_348	CCDS9493.1	13																																																																																			TM9SF2	-	pfam_EMP70	ENSG00000125304		0.31	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3		0	69	0	AAG			100181735	1	tier1		no_errors	ENST00000376387	ensembl	human	known	74_37	in_frame_del	22.90	101	30	DEL	1.000:1.000:0.993	-	-	100181735	AAG	-	100181733	7	5	58	1	0	1	0	1	0	0	0	0	16025	363	13	0	360	0	TM9SF2	13	100181733	In_Frame_Del	DEL	AAG	TCGA-L5-A4OI-01A-11D-A27G-09	234295	100181733	14988145	1543	15926											
ZIC5	85416	genome.wustl.edu	37	chr13	100622616	100622616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtgattcaccagctcgtgCatggtgccgaaagttttgga	9	11	12	9	3	1	1	1	1	0	0	2	3	1	2	2	2	3	3	2	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:100622616C>T	ENST00000267294.4	-	1	1547	c.1314G>A	c.(1312-1314)atG>atA	p.M438I		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	438					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCAGCTCGTGCATGGTGCCGA	0.746																																																	0													45	44	45					13																	100622616		2203	4300	6503	SO:0001583	missense	0			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"Zinc fingers, C2H2-type"	20322	protein-coding gene	gene with protein product			"Zic family member 5 (odd-paired homolog, Drosophila)"				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1314G>A	13.37:g.100622616C>T	ENSP00000267294:p.Met438Ile		Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M438I	ENST00000267294.4	37	c.1314	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504949	0.85282	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.34859	1.34	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.39200	0.1069	L	0.60904	1.88	0.80722	D	1	B	0.21309	0.054	B	0.26202	0.067	T	0.36114	-0.9761	9	0.54805	T	0.06	.	15.7566	0.78037	0.0:1.0:0.0:0.0	.	438	Q96T25	ZIC5_HUMAN	I	76;438	ENSP00000267294:M438I	ENSP00000267294:M438I	M	-	3	0	ZIC5	99420617	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.688000	0.84153	1.983000	0.57843	0.313000	0.20887	ATG	ZIC5	-	smart_Znf_C2H2-like	ENSG00000139800		0.746	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	-	0	42	0	C	NM_033132		100622616	-1	tier1	-	no_errors	ENST00000267294	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	T	T	100622616	C	T	100622616	3	4	58	1	0	0	0	0	1	0	0	0	17730	710	25	3	685	3	ZIC5	13	100622616	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	440883	100622616	14547262	1544	15927											
ZIC2	7546	genome.wustl.edu	37	chr13	100635007	100635008	+	In_Frame_Ins	INS	-	-	CCA																															aacatggcagcagccgcggcINSccaccaccaccaccaccacc																								rs372873355|rs375069774|rs398124241	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:100635007_100635008insCCA	ENST00000376335.3	+	1	982_983	c.689_690insCCA	c.(688-693)gcccac>gcCCAccac	p.239_240insH		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGCCGCGGCccaccaccacc	0.624														223	0.0445288	0.0711	0.0591	5008	,	,		14835	0.0456		0.004	False		,,,				2504	0.0389				Pancreas(97;119 1522 31925 44771 48764)												0																																										SO:0001652	inframe_insertion	0			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"Zinc fingers, C2H2-type"	12873	protein-coding gene	gene with protein product	"Zinc finger protein of the cerebellum 2"	603073	"Zic family member 2 (odd-paired Drosophila homolog)", "Zic family member 2 (odd-paired homolog, Drosophila)"			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.714_716dupCCA	13.37:g.100635014_100635016dupCCA	ENSP00000365514:p.His239_His239dup		Q5VYA9|Q9H309	In_Frame_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.234in_frame_insH	ENST00000376335.3	37	c.689_690	CCDS9495.1	13																																																																																			ZIC2	-	NULL	ENSG00000043355		0.624	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2		0	38	0	-	NM_007129		100635008	1	tier1		no_errors	ENST00000376335	ensembl	human	known	74_37	in_frame_ins	10.81	33	4	INS	1.000:0.990	CCA	CCA	100635008	-	CCA	100635007	7	5	58	1	0	1	1	0	0	0	0	0	17727	739	26	0	691	0	ZIC2	13	100635007	In_Frame_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	12391	100635007	14534871	1545	15928											
NALCN	259232	genome.wustl.edu	37	chr13	101742266	101742266	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagagaacttcaaacaaCgccagcatagcgtttcccac	15	6	8	12	2	1	1	1	0	0	1	2	3	2	2	2	1	5	2	2	1	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:101742266C>T	ENST00000251127.6	-	29	3402	c.3321G>A	c.(3319-3321)gcG>gcA	p.A1107A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1107					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCAAACAACGCCAGCATAG	0.463																																																	0													256	265	262					13																	101742266		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3321G>A	13.37:g.101742266C>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.A1107	ENST00000251127.6	37	c.3321	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	47	0	C	NM_052867		101742266	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	24.07	41	13	SNP	0.066	T	T	101742266	C	T	101742266	2	4	58	1	0	0	0	0	0	0	0	1	10186	523	19	1		1	NALCN	13	101742266	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1107259	101742266	13427612	1546	15929											
NALCN	259232	genome.wustl.edu	37	chr13	101763504	101763504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcggatatgatgctgcaCgctgaggattgacctctcct	7	12	12	10	2	1	3	0	3	1	0	2	5	1	5	2	3	2	3	2	3	1	3	rs149203278	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:101763504C>T	ENST00000251127.6	-	19	2347	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	756					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGATGCTGCACGCTGAGGATT	0.512																																																	0								C	MET/VAL	5,4401	9.9+/-24.2	0,5,2198	164	155	158		2266	5.6	1	13	dbSNP_134	158	0,8600		0,0,4300	yes	missense	NALCN	NM_052867.2	21	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	756/1739	101763504	5,13001	2203	4300	6503	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2266G>A	13.37:g.101763504C>T	ENSP00000251127:p.Val756Met		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V756M	ENST00000251127.6	37	c.2266	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567441	0.86439	0.001135	0.0	ENSG00000102452	ENST00000251127	D	0.97665	-4.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	P	0.50162	0.633	D	0.95414	0.8501	10	0.45353	T	0.12	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	756	Q8IZF0	NALCN_HUMAN	M	756	ENSP00000251127:V756M	ENSP00000251127:V756M	V	-	1	0	NALCN	100561505	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.298000	0.78815	2.615000	0.88500	0.650000	0.86243	GTG	NALCN	-	NULL	ENSG00000102452		0.512	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	81	0	C	NM_052867		101763504	-1	tier1	rs149203278	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	18.42	62	14	SNP	1.000	T	T	101763504	C	T	101763504	3	4	58	1	0	0	0	0	1	0	0	0	10186	536	19	1	3054	1	NALCN	13	101763504	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	21238	101763504	13406374	1547	15930											
MYO16	23026	genome.wustl.edu	37	chr13	109792622	109792622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgccgcagctctggcccgGcccagaccgcacagcgacga	7	3	12	19	5	1	1	0	0	1	1	1	3	1	1	5	2	3	3	5	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:109792622G>A	ENST00000357550.2	+	31	4037	c.3996G>A	c.(3994-3996)cgG>cgA	p.R1332R	MYO16_ENST00000356711.2_Silent_p.R1332R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCTGGCCCGGCCCAGACCGC	0.677																																																	0													43	38	40					13																	109792622		2199	4296	6495	SO:0001819	synonymous_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3996G>A	13.37:g.109792622G>A				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1332	ENST00000357550.2	37	c.3996	CCDS32008.1	13																																																																																			MYO16	-	NULL	ENSG00000041515		0.677	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	33	0	G	NM_015011		109792622	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.925	A	A	109792622	G	A	109792622	2	1	58	1	0	0	0	0	0	0	0	1	10102	1190	42	3		3	MYO16	13	109792622	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8029118	109792622	5377256	1548	15931											
IRS2	8660	genome.wustl.edu	37	chr13	110435020	110435020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgccgcggtgggggtcCgggggctggctggcctgcag	1	7	22	11	4	0	0	0	0	0	0	1	0	1	0	3	8	1	3	3	8	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:110435020C>T	ENST00000375856.3	-	1	3895	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1127					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTGGGGGTCCGGGGGCTGGC	0.731																																					Melanoma(100;613 2409 40847)												0													3	4	4					13																	110435020		1686	3623	5309	SO:0001819	synonymous_variant	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3381G>A	13.37:g.110435020C>T			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1127	ENST00000375856.3	37	c.3381	CCDS9510.1	13																																																																																			IRS2	-	NULL	ENSG00000185950		0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	-	0	28	0	C	NM_003749		110435020	-1	tier1	-	no_errors	ENST00000375856	ensembl	human	known	74_37	silent	27.50	29	11	SNP	0.228	T	T	110435020	C	T	110435020	2	4	58	1	0	0	0	0	0	0	0	1	7868	639	23	1		1	IRS2	13	110435020	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	642398	110435020	4734858	1549	15932											
IRS2	8660	genome.wustl.edu	37	chr13	110436713	110436713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtccaggtcctgggccGcgtcccccgagacccggcgg	3	5	15	18	6	0	1	0	0	0	1	4	2	3	1	6	5	0	0	6	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:110436713G>A	ENST00000375856.3	-	1	2202	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	563					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GTCCTGGGCCGCGTCCCCCGA	0.726																																					Melanoma(100;613 2409 40847)												0													12	16	14					13																	110436713		2151	4242	6393	SO:0001583	missense	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1688C>T	13.37:g.110436713G>A	ENSP00000365016:p.Ala563Val		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A563V	ENST00000375856.3	37	c.1688	CCDS9510.1	13	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.574981	0.03882	.	.	ENSG00000185950	ENST00000375856	T	0.17213	2.29	3.9	3.05	0.35203	.	0.394625	0.24930	U	0.034470	T	0.07052	0.0179	N	0.14661	0.345	0.09310	N	1	P	0.44734	0.842	B	0.31614	0.133	T	0.26052	-1.0114	10	0.39692	T	0.17	-6.7829	7.4469	0.27217	0.1624:0.4429:0.3946:0.0	.	563	Q9Y4H2	IRS2_HUMAN	V	563	ENSP00000365016:A563V	ENSP00000365016:A563V	A	-	2	0	IRS2	109234714	0.000000	0.05858	0.357000	0.25798	0.075000	0.17131	-0.336000	0.07863	0.839000	0.34971	-0.333000	0.08304	GCG	IRS2	-	NULL	ENSG00000185950		0.726	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	-	0	24	0	G	NM_003749		110436713	-1	tier1	-	no_errors	ENST00000375856	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.157	A	A	110436713	G	A	110436713	3	1	58	1	0	0	0	0	1	0	0	0	7868	1087	38	1	2336	1	IRS2	13	110436713	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1693	110436713	4733165	1550	15933											
COL4A2	1284	genome.wustl.edu	37	chr13	111117918	111117918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaccaccaggcttcctggGccctcctggccccgcaggga	5	6	13	17	1	0	0	0	0	0	0	2	2	2	2	7	5	0	2	7	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:111117918G>T	ENST00000360467.5	+	25	2249	c.1943G>T	c.(1942-1944)gGc>gTc	p.G648V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	648	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTTCCTGGGCCCTCCTGGC	0.597																																																	0													28	32	31					13																	111117918		1869	4093	5962	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1943G>T	13.37:g.111117918G>T	ENSP00000353654:p.Gly648Val		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G648V	ENST00000360467.5	37	c.1943	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	9.563	1.119095	0.20877	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	T	0.80214	-1.35	4.82	3.97	0.46021	.	0.284492	0.25050	N	0.033534	D	0.89993	0.6876	H	0.94183	3.505	0.80722	D	1	D	0.58268	0.982	P	0.55824	0.785	D	0.91742	0.5405	10	0.87932	D	0	.	12.4178	0.55504	0.0825:0.0:0.9175:0.0	.	648	P08572	CO4A2_HUMAN	V	648	ENSP00000353654:G648V	ENSP00000257309:G648V	G	+	2	0	COL4A2	109915919	1.000000	0.71417	0.004000	0.12327	0.076000	0.17211	6.440000	0.73435	1.023000	0.39654	0.462000	0.41574	GGC	COL4A2	-	NULL	ENSG00000134871		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2		0	47	0	G	NM_001846		111117918	1			no_errors	ENST00000360467	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.554	T	T	111117918	G	T	111117918	3	4	58	1	0	0	0	0	1	0	0	0	3697	1203	42	3	2037	3	COL4A2	13	111117918	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	681205	111117918	4051960	1551	15934											
CARKD	55739	genome.wustl.edu	37	chr13	111277612	111277612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacagcccggagctgatcGtccacccagttctgtgagtc	7	9	10	15	2	1	2	0	2	1	0	4	3	2	3	4	1	3	2	4	1	1	2	rs147657999	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:111277612G>A	ENST00000309957.2	+	4	387	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	CARKD_ENST00000397191.4_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000470164.2_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GGAGCTGATCGTCCACCCAGT	0.587													G|||	4	0.000798722	0.003	0	5008	,	,		18368	0		0	False		,,,				2504	0																0								G	ILE/VAL,ILE/VAL,,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	72	61	65		373,319,,373	5.4	0.9	13	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense,intron,missense	CARKD	NM_001242881.1,NM_001242882.1,NM_001242883.1,NM_018210.3	29,29,,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging,,probably-damaging	125/348,107/330,,125/391	111277612	4,13002	2203	4300	6503	SO:0001583	missense	0			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.373G>A	13.37:g.111277612G>A	ENSP00000311984:p.Val125Ile			Missense_Mutation	SNP	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	p.V125I	ENST00000309957.2	37	c.373	CCDS9513.1	13	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987729	0.93106	9.08E-4	0.0	ENSG00000213995	ENST00000439607;ENST00000309957	T	0.27890	1.64	5.37	5.37	0.77165	Uncharacterised domain, carbohydrate kinase-related (3);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.90198	3.095	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70227	0.949;0.968;0.949	T	0.71048	-0.4705	10	0.59425	D	0.04	-31.3074	17.8949	0.88885	0.0:0.0:1.0:0.0	.	107;125;125	B4DKX7;Q8IW45-2;Q8IW45	.;.;CARKD_HUMAN	I	107;125	ENSP00000311984:V125I	ENSP00000311984:V125I	V	+	1	0	CARKD	110075613	1.000000	0.71417	0.878000	0.34440	0.919000	0.55068	8.445000	0.90326	2.513000	0.84729	0.555000	0.69702	GTC	CARKD	-	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	ENSG00000213995		0.587	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	-	0	36	0	G	NM_018210		111277612	1	tier1	rs147657999	no_errors	ENST00000309957	ensembl	human	known	74_37	missense	60.98	16	25	SNP	1.000	A	A	111277612	G	A	111277612	3	1	58	1	0	0	0	0	1	0	0	0	2661	1145	40	1	387	1	CARKD	13	111277612	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	159694	111277612	3892266	1552	15935											
PROZ	8858	genome.wustl.edu	37	chr13	113826331	113826331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttctcacgggggtcctggGctcgcagccagtaggagggc	5	8	17	11	2	1	0	1	0	1	0	4	1	2	1	2	5	1	4	2	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:113826331G>T	ENST00000375547.2	+	8	1122	c.1115G>T	c.(1114-1116)gGc>gTc	p.G372V	PROZ_ENST00000342783.4_Missense_Mutation_p.G394V	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	372	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGGGTCCTGGGCTCGCAGCCA	0.552																																																	0													35	32	33					13																	113826331		2202	4296	6498	SO:0001583	missense	0			M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1115G>T	13.37:g.113826331G>T	ENSP00000364697:p.Gly372Val		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.G372V	ENST00000375547.2	37	c.1115	CCDS9531.1	13	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324940	0.24080	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92595	-3.07;-3.07	3.96	-2.05	0.07321	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.604913	0.18387	N	0.142787	D	0.87309	0.6145	L	0.36672	1.1	0.25645	N	0.986152	P;P	0.37061	0.58;0.526	P;B	0.44647	0.456;0.253	T	0.80487	-0.1361	10	0.87932	D	0	.	5.8114	0.18467	0.3109:0.2467:0.4425:0.0	.	394;372	P22891-2;P22891	.;PROZ_HUMAN	V	372;394	ENSP00000364697:G372V;ENSP00000344458:G394V	ENSP00000344458:G394V	G	+	2	0	PROZ	112874332	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.973000	0.29422	-0.122000	0.11766	0.313000	0.20887	GGC	PROZ	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000126231		0.552	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	HGNC	protein_coding	OTTHUMT00000045845.1		0	65	0	G	NM_003891		113826331	1			no_errors	ENST00000375547	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T	T	113826331	G	T	113826331	3	4	58	1	0	0	0	0	1	0	0	0	12604	1203	42	3	1145	3	PROZ	13	113826331	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2548719	113826331	1343547	1553	15936											
OR4M1	441670	genome.wustl.edu	37	chr14	20248642	20248642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcaggctagaccctcAtctgacttctcctatgtatt	9	13	5	14	0	4	2	2	1	2	1	5	2	4	2	3	1	0	2	3	1	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:20248642A>G	ENST00000315957.4	+	1	242	c.161A>G	c.(160-162)cAt>cGt	p.H54R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAGACCCTCATCTGACTTCT	0.413																																																	0													315	332	327					14																	20248642		2203	4300	6503	SO:0001583	missense	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"GPCR / Class A : Olfactory receptors"	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.161A>G	14.37:g.20248642A>G	ENSP00000319654:p.His54Arg		B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H54R	ENST00000315957.4	37	c.161	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	0.060	-1.227326	0.01518	.	.	ENSG00000176299	ENST00000315957	T	0.00784	5.7	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.00637	0.0021	N	0.20401	0.57	0.22521	N	0.999022	B	0.06786	0.001	B	0.08055	0.003	T	0.47959	-0.9076	10	0.09338	T	0.73	-5.7579	11.5315	0.50614	1.0:0.0:0.0:0.0	.	54	Q8NGD0	OR4M1_HUMAN	R	54	ENSP00000319654:H54R	ENSP00000319654:H54R	H	+	2	0	OR4M1	19318482	0.000000	0.05858	0.988000	0.46212	0.846000	0.48090	0.316000	0.19469	1.894000	0.54839	0.330000	0.21533	CAT	OR4M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176299		0.413	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	-	0	218	0	A			20248642	1	tier1	-	no_errors	ENST00000315957	ensembl	human	known	74_37	missense	23.59	149	46	SNP	0.570	G	G	20248642	A	G	20248642	3	3	58	1	0	0	0	0	1	0	0	0	11114	217	8	4	163	4	OR4M1	14	20248642	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09		20248642	87100898	1554	15937											
RNASE2	6036	genome.wustl.edu	37	chr14	21424213	21424213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtcctagtaacaaaactCgcaaaaattgtcaccacagt	15	9	5	12	1	1	0	1	0	0	0	3	0	2	0	3	0	2	2	3	0	6	3	rs34659060	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21424213C>T	ENST00000304625.2	+	2	373	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	95					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TAACAAAACTCGCAAAAATTG	0.413																																																	0													81	77	78					14																	21424213		2203	4300	6503	SO:0001583	missense	0			X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"Ribonucleases, RNase A"	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.283C>T	14.37:g.21424213C>T	ENSP00000303276:p.Arg95Cys		Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.R95C	ENST00000304625.2	37	c.283	CCDS9561.1	14	.	.	.	.	.	.	.	.	.	.	c	8.377	0.836695	0.16891	.	.	ENSG00000169385	ENST00000304625	T	0.73897	-0.79	0.803	-0.571	0.11749	Ribonuclease A, domain (4);	2.670570	0.02013	U	0.047181	T	0.72260	0.3438	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	P	0.56865	0.808	T	0.57711	-0.7764	10	0.35671	T	0.21	.	3.5429	0.07818	0.4406:0.5594:0.0:0.0	.	95	P10153	RNAS2_HUMAN	C	95	ENSP00000303276:R95C	ENSP00000303276:R95C	R	+	1	0	RNASE2	20494053	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.695000	0.00197	-0.224000	0.09928	0.305000	0.20034	CGC	RNASE2	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	ENSG00000169385		0.413	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE2	HGNC	protein_coding	OTTHUMT00000073799.2	-	0	61	0	C			21424213	1	tier1	-	no_errors	ENST00000304625	ensembl	human	known	74_37	missense	37.29	37	22	SNP	0.000	T	T	21424213	C	T	21424213	3	4	58	1	0	0	0	0	1	0	0	0	13449	884	31	1	285	1	RNASE2	14	21424213	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1175571	21424213	85925327	1555	15938											
RPGRIP1	57096	genome.wustl.edu	37	chr14	21788248	21788248	+	Frame_Shift_Del	DEL	A	A	-																															acaggaagtagagctcctccAaaatgcagccacaatttccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21788248delA	ENST00000400017.2	+	11	1379	c.1379delA	c.(1378-1380)caafs	p.Q460fs	RPGRIP1_ENST00000557771.1_Frame_Shift_Del_p.Q433fs|RPGRIP1_ENST00000382933.4_Frame_Shift_Del_p.Q102fs|RPGRIP1_ENST00000206660.6_Frame_Shift_Del_p.Q460fs|RPGRIP1_ENST00000556336.1_Frame_Shift_Del_p.Q433fs	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	460					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGCTCCTCCAAAATGCAGCC	0.458																																																	0													48	47	48					14																	21788248		1927	4133	6060	SO:0001589	frameshift_variant	0			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1379delA	14.37:g.21788248delA	ENSP00000382895:p.Gln460fs		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Frame_Shift_Del	DEL	pfam_DUF3250,superfamily_C2_dom	p.N461fs	ENST00000400017.2	37	c.1379	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL	ENSG00000092200		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1		0	28	0	A	NM_020366		21788248	1	tier1		no_errors	ENST00000206660	ensembl	human	known	74_37	frame_shift_del	48.00	13	12	DEL	0.623	-	-	21788248	A	-	21788248	7	5	58	1	0	1	0	1	0	0	0	0	13594	130	5	0	1421	0	RPGRIP1	14	21788248	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	364035	21788248	85561292	1556	15939											
RPGRIP1	57096	genome.wustl.edu	37	chr14	21816412	21816412	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatatgcatatcttcaactGtggcagatcctggagtcagg	10	11	12	8	0	3	1	2	0	1	1	4	3	4	3	1	4	2	2	1	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21816412G>T	ENST00000400017.2	+	23	3699	c.3699G>T	c.(3697-3699)ctG>ctT	p.L1233L	RPGRIP1_ENST00000557771.1_Silent_p.L1195L|RPGRIP1_ENST00000382933.4_Silent_p.L559L|RPGRIP1_ENST00000307974.4_Silent_p.L592L|RPGRIP1_ENST00000206660.6_Silent_p.L1233L|RPGRIP1_ENST00000556336.1_Silent_p.L890L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1233	Interaction with RPGR. {ECO:0000269|PubMed:24981858}.				eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATCTTCAACTGTGGCAGATCC	0.348																																																	0													115	113	114					14																	21816412		1873	4114	5987	SO:0001819	synonymous_variant	0			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3699G>T	14.37:g.21816412G>T			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_dom	p.L1233	ENST00000400017.2	37	c.3699	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL	ENSG00000092200		0.348	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	-	0	48	0	G	NM_020366		21816412	1	tier1	-	no_errors	ENST00000206660	ensembl	human	known	74_37	silent	9.33	68	7	SNP	0.877	T	T	21816412	G	T	21816412	2	4	58	1	0	0	0	0	0	0	0	1	13594	1364	48	3		3	RPGRIP1	14	21816412	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	28164	21816412	85533128	1557	15940											
CHD8	57680	genome.wustl.edu	37	chr14	21899050	21899050	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgaacccttaactggCtggaggaccagctgctttac	9	9	12	11	0	0	1	0	1	0	0	0	4	0	4	2	4	6	4	2	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21899050C>T	ENST00000557364.1	-	2	1016	c.753G>A	c.(751-753)caG>caA	p.Q251Q	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000399982.2_Silent_p.Q251Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	251					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTTAACTGGCTGGAGGACCA	0.592																																																	0													26	26	26					14																	21899050		1568	3582	5150	SO:0001819	synonymous_variant	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.753G>A	14.37:g.21899050C>T			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q251	ENST00000557364.1	37	c.753	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.592	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0	43	0	C	NM_020920		21899050	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	silent	50.00	16	16	SNP	1.000	T	T	21899050	C	T	21899050	2	4	58	1	0	0	0	0	0	0	0	1	3338	796	28	3		3	CHD8	14	21899050	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	82638	21899050	85450490	1558	15941											
SLC7A7	9056	genome.wustl.edu	37	chr14	23243319	23243319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagacaatcgggaagaaaaCgctgagctaagggcacagga	17	3	14	7	2	0	3	0	1	0	2	1	6	0	5	0	3	2	3	0	3	6	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:23243319C>T	ENST00000397532.3	-	9	1777	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I	SLC7A7_ENST00000555702.1_Missense_Mutation_p.V418I|SLC7A7_ENST00000285850.7_Missense_Mutation_p.V418I|SLC7A7_ENST00000397528.4_Missense_Mutation_p.V418I|SLC7A7_ENST00000397529.2_Missense_Mutation_p.V418I|SLC7A7_ENST00000554517.1_Missense_Mutation_p.V152I|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	418					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GGGAAGAAAACGCTGAGCTAA	0.488																																																	0													122	120	120					14																	23243319		2203	4300	6503	SO:0001583	missense	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1252G>A	14.37:g.23243319C>T	ENSP00000380666:p.Val418Ile		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.V418I	ENST00000397532.3	37	c.1252	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	C	9.385	1.073998	0.20147	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	6.13	-0.816	0.10839	.	0.182135	0.48767	N	0.000161	T	0.67887	0.2941	N	0.00754	-1.215	0.26308	N	0.97788	B	0.06786	0.001	B	0.06405	0.002	T	0.63708	-0.6576	10	0.38643	T	0.18	.	6.7673	0.23575	0.0643:0.0954:0.3856:0.4547	.	418	Q9UM01	YLAT1_HUMAN	I	418;418;418;391;418;418;152	ENSP00000285850:V418I;ENSP00000451881:V418I;ENSP00000380666:V418I;ENSP00000380663:V418I;ENSP00000380662:V418I;ENSP00000452083:V152I	ENSP00000285850:V418I	V	-	1	0	SLC7A7	22313159	0.991000	0.36638	0.790000	0.31976	0.193000	0.23685	0.266000	0.18534	-0.046000	0.13446	-1.284000	0.01376	GTT	SLC7A7	-	pirsf_AA/rel_permease1	ENSG00000155465		0.488	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	-	0	23	0	C			23243319	-1	tier1	-	no_errors	ENST00000285850	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.923	T	T	23243319	C	T	23243319	3	4	58	1	0	0	0	0	1	0	0	0	14748	536	19	1	291	1	SLC7A7	14	23243319	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1344269	23243319	84106221	1559	15942											
LRP10	26020	genome.wustl.edu	37	chr14	23346171	23346171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtgctgggcaacctgcGttctctgctacagatcttac	7	12	9	13	1	3	1	1	0	2	1	4	1	3	1	1	1	6	4	1	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:23346171G>A	ENST00000359591.4	+	7	2268	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.R526H	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	526					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R526H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCAACCTGCGTTCTCTGCTA	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											63	58	60					14																	23346171		2203	4300	6503	SO:0001583	missense	0			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"Low density lipoprotein receptors"	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1577G>A	14.37:g.23346171G>A	ENSP00000352601:p.Arg526His		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.R526H	ENST00000359591.4	37	c.1577	CCDS9578.1	14	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212288	0.79240	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	D;D	0.96459	-3.96;-4.02	5.13	5.13	0.70059	.	0.056744	0.64402	D	0.000001	D	0.97542	0.9195	M	0.62723	1.935	0.51767	D	0.999938	D	0.89917	1.0	D	0.83275	0.996	D	0.98136	1.0433	10	0.87932	D	0	-13.9664	15.8424	0.78861	0.0:0.0:1.0:0.0	.	526	Q7Z4F1	LRP10_HUMAN	H	526	ENSP00000352601:R526H;ENSP00000447559:R526H	ENSP00000352601:R526H	R	+	2	0	LRP10	22416011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.853000	0.75435	2.557000	0.86248	0.563000	0.77884	CGT	LRP10	-	NULL	ENSG00000197324		0.622	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	-	0	63	0	G			23346171	1	tier1	-	no_errors	ENST00000359591	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	A	A	23346171	G	A	23346171	3	1	58	1	0	0	0	0	1	0	0	0	8987	1145	40	1	1603	1	LRP10	14	23346171	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	102852	23346171	84003369	1560	15943											
BCL2L2	599	genome.wustl.edu	37	chr14	23778157	23778157	+	Frame_Shift_Del	DEL	T	T	-																															ccctggtaactgtaggggccTtttttgctagcaagtgaaag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:23778157delT	ENST00000250405.5	+	4	794	c.565delT	c.(565-567)tttfs	p.F190fs	BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	190					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		TGTAGGGGCCTTTTTTGCTAG	0.632																																																	0													40	45	43					14																	23778157		2203	4300	6503	SO:0001589	frameshift_variant	0			D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	995	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 51"	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.565delT	14.37:g.23778157delT	ENSP00000250405:p.Phe190fs		A8K0F4|Q2M3U0|Q5U0H4	Frame_Shift_Del	DEL	pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclW,prints_Blc2_fam	p.F190fs	ENST00000250405.5	37	c.565	CCDS9591.1	14																																																																																			BCL2L2	-	NULL	ENSG00000129473		0.632	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L2	HGNC	protein_coding	OTTHUMT00000071763.3		0	34	0	T	NM_004050		23778157	1	tier1		no_errors	ENST00000250405	ensembl	human	known	74_37	frame_shift_del	31.58	13	6	DEL	1.000	-	-	23778157	T	-	23778157	7	5	58	1	0	1	0	1	0	0	0	0	1375	1609	56	0	571	0	BCL2L2	14	23778157	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	431986	23778157	83571383	1561	15944											
DHRS4L1	90668	genome.wustl.edu	37	chr14	24520063	24520063	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcttcccctattccccagGttaggcgagccagaggattc	7	11	10	13	1	0	1	0	0	0	1	3	3	2	2	5	3	2	2	5	3	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24520063G>T	ENST00000342740.5	+	0	0				LRRC16B_ENST00000334420.7_5'Flank|RP11-468E2.9_ENST00000558293.1_RNA	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B							cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TATTCCCCAGGTTAGGCGAGC	0.507																																																	0													62	61	62					14																	24520063		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23			14.37:g.24520063G>T	Exception_encountered		Q8TEF7|Q96HS9	RNA	SNP	-	NULL	ENST00000342740.5	37	NULL	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	1.050	-0.676139	0.03378	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.82	0.995	0.19838	NAD(P)-binding domain (1);	.	.	.	.	T	0.79656	0.4483	H	0.95114	3.625	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.81824	-0.0755	6	.	.	.	.	8.1538	0.31156	0.3339:0.0:0.6661:0.0	.	244	P0CG22	DR4L1_HUMAN	S	244	.	.	R	+	3	2	AL136295.1	23589903	0.993000	0.37304	0.177000	0.23020	0.068000	0.16541	2.144000	0.42197	0.010000	0.14839	0.455000	0.32223	AGG	RP11-468E2.9	-	-	ENSG00000225766		0.507	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DHRS4L1	Clone_based_vega_gene	protein_coding	OTTHUMT00000416527.1	-	0	88	0	G	NM_138360		24520063	1	tier1	-	no_errors	ENST00000558293	ensembl	human	known	74_37	rna	6.78	55	4	SNP	0.252	T	T	24520063	G	T	24520063	1	4	58	0	1	0	0	0	0	0	0	0	4507	1275	44	3		3	DHRS4L1	14	24520063	5'Flank	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	741906	24520063	82829477	1562	15945											
LRRC16B	90668	genome.wustl.edu	37	chr14	24529193	24529193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcaaccacacgctgcGcttcatgtccttccccgtga	8	8	7	18	3	1	1	1	1	0	0	3	1	3	1	5	0	3	3	5	0	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24529193G>T	ENST00000342740.5	+	23	2037	c.1883G>T	c.(1882-1884)cGc>cTc	p.R628L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	628						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CACACGCTGCGCTTCATGTCC	0.652																																																	0													147	126	133					14																	24529193		2203	4300	6503	SO:0001583	missense	0			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"chromosome 14 open reading frame 121"	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1883G>T	14.37:g.24529193G>T	ENSP00000340467:p.Arg628Leu		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R628L	ENST00000342740.5	37	c.1883	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600733	0.66332	.	.	ENSG00000186648	ENST00000342740	T	0.53857	0.6	4.52	4.52	0.55395	.	0.069948	0.64402	D	0.000014	T	0.46983	0.1421	L	0.55743	1.74	0.80722	D	1	P	0.52842	0.956	B	0.39617	0.305	T	0.53892	-0.8374	10	0.45353	T	0.12	-14.8464	14.7808	0.69766	0.0:0.0:1.0:0.0	.	628	Q8ND23	LR16B_HUMAN	L	628	ENSP00000340467:R628L	ENSP00000340467:R628L	R	+	2	0	LRRC16B	23599033	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.906000	0.48735	2.331000	0.79229	0.561000	0.74099	CGC	LRRC16B	-	NULL	ENSG00000186648		0.652	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	-	0	73	0	G	NM_138360		24529193	1	tier1	-	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	T	T	24529193	G	T	24529193	3	4	58	1	0	0	0	0	1	0	0	0	9007	1087	38	2	1973	2	LRRC16B	14	24529193	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	9130	24529193	82820347	1563	15946											
CPNE6	9362	genome.wustl.edu	37	chr14	24542776	24542776	+	Frame_Shift_Del	DEL	T	T	-																															cgggtgctggcccttgagtaTttttttgaggagaagcagcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24542776delT	ENST00000397016.2	+	4	548	c.237delT	c.(235-237)tatfs	p.Y79fs	CPNE6_ENST00000216775.2_Frame_Shift_Del_p.Y79fs|CPNE6_ENST00000537691.1_Frame_Shift_Del_p.Y134fs|CPNE6_ENST00000560092.1_3'UTR	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	79	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCTTGAGTATTTTTTTGAGG	0.597																																																	0													86	81	83					14																	24542776		2203	4300	6503	SO:0001589	frameshift_variant	0			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.237delT	14.37:g.24542776delT	ENSP00000380211:p.Tyr79fs		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Frame_Shift_Del	DEL	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.F136fs	ENST00000397016.2	37	c.402	CCDS9607.1	14																																																																																			CPNE6	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000100884		0.597	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	HGNC	protein_coding	OTTHUMT00000071869.5		0	59	0	T			24542776	1	tier1		no_errors	ENST00000537691	ensembl	human	known	74_37	frame_shift_del	30.36	39	17	DEL	1.000	-	-	24542776	T	-	24542776	7	5	58	1	0	1	0	1	0	0	0	0	3823	1500	52	0	243	0	CPNE6	14	24542776	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	13583	24542776	82806764	1564	15947											
REC8	9985	genome.wustl.edu	37	chr14	24642145	24642145	+	Frame_Shift_Del	DEL	C	C	-																															acgtgctggtacgagtgcaaCccccgcagcccggcctgccg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24642145delC	ENST00000311457.3	+	4	762	c.163delC	c.(163-165)cccfs	p.P56fs	REC8_ENST00000559919.1_Frame_Shift_Del_p.P56fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	56					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ACGAGTGCAACCCCCGCAGCC	0.607																																					NSCLC(139;1764 2537 12868 49041)												0													53	63	60					14																	24642145		2015	4144	6159	SO:0001589	frameshift_variant	0			AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"REC8-like 1 (yeast)", "REC8 homolog (yeast)"	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.163delC	14.37:g.24642145delC	ENSP00000308699:p.Pro56fs		A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Frame_Shift_Del	DEL	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.P56fs	ENST00000311457.3	37	c.163	CCDS41932.1	14																																																																																			REC8	-	pfam_Rad21_Rec8_N	ENSG00000100918		0.607	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000415889.3		0	35	0	C	NM_005132		24642145	1	tier1		no_errors	ENST00000311457	ensembl	human	known	74_37	frame_shift_del	12.00	22	3	DEL	0.808	-	-	24642145	C	-	24642145	7	5	58	1	0	1	0	1	0	0	0	0	13244	507	18	0	173	0	REC8	14	24642145	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	99369	24642145	82707395	1565	15948											
IPO4	79711	genome.wustl.edu	37	chr14	24654089	24654089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccaatggctcccagggcGctcacagccagctccttggc	7	7	10	17	1	2	0	2	0	0	0	4	0	4	0	4	3	2	3	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24654089G>A	ENST00000354464.6	-	15	1682	c.1506C>T	c.(1504-1506)agC>agT	p.S502S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	502					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTCCCAGGGCGCTCACAGCCA	0.637																																																	0													33	37	36					14																	24654089		2028	4181	6209	SO:0001819	synonymous_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"Importins"	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1506C>T	14.37:g.24654089G>A			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.S502	ENST00000354464.6	37	c.1506	CCDS9616.1	14																																																																																			IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.637	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	-	0	62	0	G	NM_024658		24654089	-1	tier1	-	no_errors	ENST00000354464	ensembl	human	known	74_37	silent	45.00	31	27	SNP	1.000	A	A	24654089	G	A	24654089	2	1	58	1	0	0	0	0	0	0	0	1	7822	1078	38	1		1	IPO4	14	24654089	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	11944	24654089	82695451	1566	15949											
NYNRIN	57523	genome.wustl.edu	37	chr14	24885036	24885036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggcagccgtggcctgcGgcctggagcgctttggccag	4	7	16	14	3	0	0	0	0	0	0	0	1	0	1	5	5	3	2	5	5	0	1	rs375921086		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24885036G>A	ENST00000382554.3	+	9	4399	c.4081G>A	c.(4081-4083)Ggc>Agc	p.G1361S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1361					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CGTGGCCTGCGGCCTGGAGCG	0.627																																																	0								G	SER/GLY	0,3916		0,0,1958	68	73	71		4081	4.9	1	14		71	1,8283		0,1,4141	no	missense	NYNRIN	NM_025081.2	56	0,1,6099	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1361/1899	24885036	1,12199	1958	4142	6100	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4081G>A	14.37:g.24885036G>A	ENSP00000371994:p.Gly1361Ser		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.G1361S	ENST00000382554.3	37	c.4081	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831482	0.71258	0.0	1.21E-4	ENSG00000205978	ENST00000382554	T	0.11169	2.8	4.93	4.93	0.64822	Ribonuclease H-like (1);	.	.	.	.	T	0.11067	0.0270	N	0.24115	0.695	0.31238	N	0.695507	P	0.52842	0.956	B	0.44278	0.445	T	0.02333	-1.1175	9	0.59425	D	0.04	.	15.6876	0.77424	0.0:0.0:1.0:0.0	.	1361	Q9P2P1	NYNRI_HUMAN	S	1361	ENSP00000371994:G1361S	ENSP00000371994:G1361S	G	+	1	0	NYNRIN	23954876	1.000000	0.71417	0.955000	0.39395	0.972000	0.66771	4.281000	0.58965	2.551000	0.86045	0.655000	0.94253	GGC	NYNRIN	-	superfamily_RNaseH-like_dom	ENSG00000205978		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	-	0	76	0	G			24885036	1	tier1	-	no_errors	ENST00000382554	ensembl	human	known	74_37	missense	30.65	42	19	SNP	0.996	A	A	24885036	G	A	24885036	3	1	58	1	0	0	0	0	1	0	0	0	10835	1116	39	1	4111	1	NYNRIN	14	24885036	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	230947	24885036	82464504	1567	15950											
G2E3	55632	genome.wustl.edu	37	chr14	31066642	31066642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggttcaagcaataaatgCgggagtgtttttctttaggt	10	15	12	4	1	2	0	1	0	1	0	2	1	2	1	0	3	2	4	0	3	6	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:31066642C>T	ENST00000206595.6	+	7	699	c.545C>T	c.(544-546)gCg>gTg	p.A182V	G2E3_ENST00000438909.2_Missense_Mutation_p.A136V|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A182V(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAATAAATGCGGGAGTGTTT	0.313																																																	1	Substitution - Missense(1)	prostate(1)											147	164	158					14																	31066642		2203	4299	6502	SO:0001583	missense	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.545C>T	14.37:g.31066642C>T	ENSP00000206595:p.Ala182Val		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.A182V	ENST00000206595.6	37	c.545	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.216967	0.95104	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.62941	-0.01;-0.01;-0.01	5.67	5.67	0.87782	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.934;0.996	D	0.83933	0.0307	10	0.66056	D	0.02	-16.4834	20.1169	0.97940	0.0:1.0:0.0:0.0	.	136;182	B4DIF9;Q7L622	.;G2E3_HUMAN	V	182;136;212	ENSP00000206595:A182V;ENSP00000391068:A136V;ENSP00000451653:A212V	ENSP00000206595:A182V	A	+	2	0	G2E3	30136393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.774000	0.75012	2.835000	0.97688	0.591000	0.81541	GCG	G2E3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000092140		0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	-	0	23	0	C	NM_017769		31066642	1	tier1	-	no_errors	ENST00000206595	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T	T	31066642	C	T	31066642	3	4	58	1	0	0	0	0	1	0	0	0	6164	768	27	1	567	1	G2E3	14	31066642	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6181606	31066642	76282898	1568	15951											
HEATR5A	25938	genome.wustl.edu	37	chr14	31852855	31852855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaagccgttcaaggcaacGatccaagagtggtgttaggt	12	9	13	7	2	1	1	1	0	0	1	2	2	2	1	2	3	2	4	2	3	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:31852855G>A	ENST00000389961.3	-	9	1449	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	HEATR5A_ENST00000543095.2_Missense_Mutation_p.R490C|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R484C|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R490C|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R197C			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	484										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCAAGGCAACGATCCAAGAGT	0.468																																																	0													192	181	185					14																	31852855		1980	4186	6166	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1450C>T	14.37:g.31852855G>A	ENSP00000374611:p.Arg484Cys		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R484C	ENST00000389961.3	37	c.1450		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.600333|4.600333	0.87055|0.87055	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.66460|.	-0.21;-0.21;-0.21;-0.21;-0.21|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.054715|.	0.64402|.	D|.	0.000001|.	T|T	0.78181|0.78181	0.4243|0.4243	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	P;D;D|.	0.70487|.	0.901;0.921;0.969|.	T|T	0.79147|0.79147	-0.1923|-0.1923	10|5	0.87932|.	D|.	0|.	.|.	15.022|15.022	0.71637|0.71637	0.0:0.0:0.8578:0.1422|0.0:0.0:0.8578:0.1422	.|.	490;484;484|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	C|L	484;484;197;490;490|132	ENSP00000374611:R484C;ENSP00000405407:R484C;ENSP00000408681:R197C;ENSP00000437968:R490C;ENSP00000384646:R490C|.	ENSP00000374611:R484C|.	R|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30922606|30922606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	3.877000|3.877000	0.56123|0.56123	2.788000|2.788000	0.95919|0.95919	0.557000|0.557000	0.71058|0.71058	CGT|TCG	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.468	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		-	0	41	0	G	NM_015473		31852855	-1	tier1	-	no_errors	ENST00000389961	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	A	A	31852855	G	A	31852855	3	1	58	1	0	0	0	0	1	0	0	0	7058	1058	37	1	4780	1	HEATR5A	14	31852855	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	786213	31852855	75496685	1569	15952											
NUBPL	80224	genome.wustl.edu	37	chr14	32031398	32031398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggcttctggaaagggtgGagtcggaaaatctactacag	11	10	14	6	1	2	0	0	0	2	0	3	3	2	3	0	5	2	1	0	5	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:32031398G>T	ENST00000281081.7	+	2	278	c.233G>T	c.(232-234)gGa>gTa	p.G78V	CTD-2213F21.3_ENST00000548096.1_RNA	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	78					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GGAAAGGGTGGAGTCGGAAAA	0.368																																																	0													76	74	74					14																	32031398		1838	4087	5925	SO:0001583	missense	0			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"Mitochondrial respiratory chain complex assembly factors"	20278	protein-coding gene	gene with protein product	"iron-sulfur protein required for NADH dehydrogenase"	613621	"chromosome 14 open reading frame 127"	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.233G>T	14.37:g.32031398G>T	ENSP00000281081:p.Gly78Val		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase	p.G78V	ENST00000281081.7	37	c.233	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703388	0.68501	.	.	ENSG00000151413	ENST00000550005;ENST00000550649;ENST00000281081;ENST00000551314	T;D;D	0.93859	-0.08;-3.3;-3.16	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.98495	0.9498	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99418	1.0932	10	0.87932	D	0	-24.3006	17.2114	0.86931	0.0:0.0:1.0:0.0	.	78	Q8TB37	NUBPL_HUMAN	V	53;78;78;26	ENSP00000447618:G78V;ENSP00000281081:G78V;ENSP00000447234:G26V	ENSP00000281081:G78V	G	+	2	0	NUBPL	31101149	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.554000	0.82212	2.804000	0.96469	0.462000	0.41574	GGA	NUBPL	-	pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase	ENSG00000151413		0.368	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1		0	24	0	G	NM_025152		32031398	1			no_errors	ENST00000281081	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	32031398	G	T	32031398	3	4	58	1	0	0	0	0	1	0	0	0	10756	1174	41	3	239	3	NUBPL	14	32031398	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	178543	32031398	75318142	1570	15953											
INSM2	84684	genome.wustl.edu	37	chr14	36005057	36005057	+	Frame_Shift_Del	DEL	T	T	-																															tgcaagcactgcccgtccacTttttttagctctccagggct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:36005057delT	ENST00000307169.3	+	1	1810	c.1599delT	c.(1597-1599)actfs	p.T533fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCCCGTCCACTTTTTTTAGCT	0.627																																																	0													32	34	33					14																	36005057		2199	4293	6492	SO:0001589	frameshift_variant	0			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"Zinc fingers, C2H2-type"	17539	protein-coding gene	gene with protein product	"mlt 1"	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1599delT	14.37:g.36005057delT	ENSP00000306523:p.Thr533fs		A1L432|J9Y024|Q8N8K7|Q96Q84	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F535fs	ENST00000307169.3	37	c.1599	CCDS9657.1	14																																																																																			INSM2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000168348		0.627	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSM2	HGNC	protein_coding	OTTHUMT00000276686.1		0	70	0	T			36005057	1	tier1		no_errors	ENST00000307169	ensembl	human	known	74_37	frame_shift_del	33.33	38	19	DEL	0.624	-	-	36005057	T	-	36005057	7	5	58	1	0	1	0	1	0	0	0	0	7799	1596	56	0	1601	0	INSM2	14	36005057	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	3973659	36005057	71344483	1571	15954											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36041863	36041863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaataattcctctcCtgtagtctctagtatgctct	7	16	8	10	0	3	0	0	0	3	0	6	1	4	1	2	1	1	3	2	1	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:36041863C>T	ENST00000389698.3	-	37	6143	c.5753G>A	c.(5752-5754)aGg>aAg	p.R1918K	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R1965K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1918K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1931K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1918	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATTCCTCTCCTGTAGTCTCT	0.343																																																	0													112	112	112					14																	36041863		2203	4297	6500	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5753G>A	14.37:g.36041863C>T	ENSP00000374348:p.Arg1918Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.R1965K	ENST00000389698.3	37	c.5894	CCDS32065.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.394168|5.394168	0.96009|0.96009	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.94723	.|-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96411|0.96411	0.8829|0.8829	L|L	0.50847|0.50847	1.595|1.595	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|0.992;1.0;0.997;1.0	.|D;D;D;D	.|0.91635	.|0.986;0.999;0.96;0.999	D|D	0.96868|0.96868	0.9637|0.9637	5|10	.|0.72032	.|D	.|0.01	-9.5799|-9.5799	18.9988|18.9988	0.92824|0.92824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1965;1931;1918;1918	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	R|K	201|1918;1918;1918;1965;556;1931;1965	.|ENSP00000374348:R1918K;ENSP00000302647:R1918K;ENSP00000258840:R1965K;ENSP00000451133:R556K;ENSP00000371803:R1931K;ENSP00000451877:R1965K	.|ENSP00000258840:R1965K	G|R	-|-	1|2	0|0	RALGAPA1|RALGAPA1	35111614|35111614	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.489000|2.489000	0.83994|0.83994	0.585000|0.585000	0.79938|0.79938	GGA|AGG	RALGAPA1	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000174373		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	0	89	0	C	XM_210022		36041863	-1	tier1	-	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	39.82	68	45	SNP	1.000	T	T	36041863	C	T	36041863	3	4	58	1	0	0	0	0	1	0	0	0	13058	681	24	3	526	3	RALGAPA1	14	36041863	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	36806	36041863	71307677	1572	15955											
NKX2-8	26257	genome.wustl.edu	37	chr14	37050375	37050375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcggatgctgccaggtcaGgcgactccgccgcccctgga	5	5	15	16	5	1	0	1	0	0	0	2	3	2	2	5	5	2	1	5	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:37050375G>T	ENST00000258829.5	-	2	669	c.452C>A	c.(451-453)cCt>cAt	p.P151H		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	151					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCAGGTCAGGCGACTCCGC	0.716																																																	0													8	9	8					14																	37050375		2172	4254	6426	SO:0001583	missense	0				CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"Homeoboxes / ANTP class : NKL subclass"	16364	protein-coding gene	gene with protein product		603245	"NK-2 homolog H (Drosophila)", "NK2 transcription factor related, locus 8 (Drosophila)"	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.452C>A	14.37:g.37050375G>T	ENSP00000258829:p.Pro151His		Q8IUT7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P151H	ENST00000258829.5	37	c.452	CCDS9660.1	14	.	.	.	.	.	.	.	.	.	.	G	6.653	0.489015	0.12641	.	.	ENSG00000136327	ENST00000258829	D	0.91011	-2.77	3.36	3.36	0.38483	.	1.601160	0.03341	N	0.194735	D	0.86965	0.6060	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.71031	-0.4710	10	0.30854	T	0.27	.	8.8583	0.35242	0.1126:0.0:0.8874:0.0	.	151	O15522	NKX28_HUMAN	H	151	ENSP00000258829:P151H	ENSP00000258829:P151H	P	-	2	0	NKX2-8	36120126	0.474000	0.25886	0.004000	0.12327	0.078000	0.17371	0.728000	0.26013	2.166000	0.68216	0.561000	0.74099	CCT	NKX2-8	-	NULL	ENSG00000136327		0.716	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-8	HGNC	protein_coding	OTTHUMT00000071844.6	-	0	33	0	G			37050375	-1	tier1	-	no_errors	ENST00000258829	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.005	T	T	37050375	G	T	37050375	3	4	58	1	0	0	0	0	1	0	0	0	10493	1000	35	3	271	3	NKX2-8	14	37050375	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1008512	37050375	70299165	1573	15956											
SSTR1	6751	genome.wustl.edu	37	chr14	38678935	38678935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctcagcgtgcccttccTagtcacctccacgttgttgc	5	12	8	16	2	2	0	2	0	0	0	4	0	4	0	4	0	4	3	4	0	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:38678935T>C	ENST00000267377.2	+	3	958	c.341T>C	c.(340-342)cTa>cCa	p.L114P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	114					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GTGCCCTTCCTAGTCACCTCC	0.572																																																	0													205	185	192					14																	38678935		2203	4300	6503	SO:0001583	missense	0				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"GPCR / Class A : Somatostatin receptors"	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.341T>C	14.37:g.38678935T>C	ENSP00000267377:p.Leu114Pro			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.L114P	ENST00000267377.2	37	c.341	CCDS9666.1	14	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160874	0.78226	.	.	ENSG00000139874	ENST00000267377	T	0.32272	1.46	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000289	T	0.59865	0.2225	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68021	-0.5519	10	0.87932	D	0	.	13.6829	0.62496	0.0:0.0:0.0:1.0	.	114	P30872	SSR1_HUMAN	P	114	ENSP00000267377:L114P	ENSP00000267377:L114P	L	+	2	0	SSTR1	37748686	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.841000	0.86834	2.027000	0.59764	0.533000	0.62120	CTA	SSTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	ENSG00000139874		0.572	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	HGNC	protein_coding	OTTHUMT00000409930.2	-	0	81	0	T			38678935	1	tier1	-	no_errors	ENST00000267377	ensembl	human	known	74_37	missense	65.62	11	21	SNP	1.000	C	C	38678935	T	C	38678935	3	2	58	1	0	0	0	0	1	0	0	0	15244	1522	53	4	343	4	SSTR1	14	38678935	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1628560	38678935	68670605	1574	15957											
FAM179B	23116	genome.wustl.edu	37	chr14	45433438	45433438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggtcaaaccatttggCacatggagcagatacggact	12	8	13	8	1	1	1	1	0	0	1	1	3	1	3	1	5	3	3	1	5	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:45433438C>T	ENST00000361577.3	+	1	2028	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A605V|FAM179B_ENST00000382233.2_Missense_Mutation_p.A605V|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	605										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AACCATTTGGCACATGGAGCA	0.498																																																	0													131	116	121					14																	45433438		2203	4300	6503	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1814C>T	14.37:g.45433438C>T	ENSP00000355045:p.Ala605Val		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A605V	ENST00000361577.3	37	c.1814	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300605	0.23650	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04317	3.65;3.65;3.65	4.47	4.47	0.54385	Armadillo-type fold (1);	0.307176	0.27406	N	0.019502	T	0.03348	0.0097	N	0.14661	0.345	0.32231	N	0.573933	B;P;B;B	0.38504	0.027;0.634;0.025;0.027	B;B;B;B	0.35971	0.029;0.215;0.028;0.02	T	0.22871	-1.0204	10	0.46703	T	0.11	-10.9535	10.5651	0.45167	0.0:0.9106:0.0:0.0894	.	605;605;605;605	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	605	ENSP00000355045:A605V;ENSP00000354917:A605V;ENSP00000371668:A605V	ENSP00000354917:A605V	A	+	2	0	FAM179B	44503188	0.985000	0.35326	1.000000	0.80357	0.773000	0.43773	2.232000	0.43018	2.311000	0.77944	0.561000	0.74099	GCA	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.498	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	-	0	62	0	C	XM_113781		45433438	1	tier1	-	no_errors	ENST00000361577	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.895	T	T	45433438	C	T	45433438	3	4	58	1	0	0	0	0	1	0	0	0	5525	710	25	3	1816	3	FAM179B	14	45433438	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6754503	45433438	61916102	1575	15958											
MDGA2	161357	genome.wustl.edu	37	chr14	47530713	47530713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagatattttcacctcacGgccaatctggatgttgtcat	10	13	8	10	1	4	1	3	0	1	1	4	2	4	2	2	2	0	2	2	2	3	4	rs201536918	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:47530713G>T	ENST00000399232.2	-	7	1421	c.1057C>A	c.(1057-1059)Cgt>Agt	p.R353S	MDGA2_ENST00000439988.3_Missense_Mutation_p.R422S|MDGA2_ENST00000426342.1_Missense_Mutation_p.R124S|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124S	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCACCTCACGGCCAATCTGG	0.383																																																	0													80	73	75					14																	47530713		1873	4091	5964	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1057C>A	14.37:g.47530713G>T	ENSP00000382178:p.Arg353Ser		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R422S	ENST00000399232.2	37	c.1264		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984831|2.984831	0.53934|0.53934	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.38401	.|1.14;1.14;1.14;1.14	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.|0.000000	.|0.52532	.|U	.|0.000064	T|T	0.41396|0.41396	0.1157|0.1157	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.75020	.|0.985	T|T	0.19386|0.19386	-1.0307|-1.0307	5|10	.|0.13108	.|T	.|0.6	.|.	18.9858|18.9858	0.92769|0.92769	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|353	.|Q7Z553	.|MDGA2_HUMAN	Q|S	127|353;124;422;124	.|ENSP00000400011:R353S;ENSP00000405456:R124S;ENSP00000382178:R422S;ENSP00000349925:R124S	.|ENSP00000349925:R124S	P|R	-|-	2|1	0|0	MDGA2|MDGA2	46600463|46600463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.807000|9.807000	0.99171|0.99171	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCG|CGT	MDGA2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000272781		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	31	0	G	NM_182830		47530713	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T	T	47530713	G	T	47530713	3	4	58	1	0	0	0	0	1	0	0	0	9445	1116	39	2	1857	2	MDGA2	14	47530713	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2097275	47530713	59818827	1576	15959											
L2HGDH	79944	genome.wustl.edu	37	chr14	50735881	50735881	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagcatcattacctacCggataaatatttccttttac	13	14	5	9	1	1	0	1	0	0	0	2	2	2	2	3	2	4	1	3	2	8	8	rs144701373		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:50735881C>T	ENST00000267436.4	-	7	1303	c.906G>A	c.(904-906)ccG>ccA	p.P302P	L2HGDH_ENST00000421284.3_Splice_Site_p.P302P|L2HGDH_ENST00000261699.4_Splice_Site_p.P302P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	302			P -> L (in L2HGA). {ECO:0000269|PubMed:15385440, ECO:0000269|PubMed:16134148}.		2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CATTACCTACCGGATAAATAT	0.388																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	63	64	64		906	3.8	1	14	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	L2HGDH	NM_024884.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		302/464	50735881	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"2-hydroxyglutarate dehydrogenase"	609584	"chromosome 14 open reading frame 160"	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.906+1G>A	14.37:g.50735881C>T			Q9BRR1	Silent	SNP	pfam_FAD-dep_OxRdtase	p.P302	ENST00000267436.4	37	c.906	CCDS9698.1	14																																																																																			L2HGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000087299		0.388	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	-	0	36	0	C	NM_024884	Silent	50735881	-1	tier1	rs144701373	no_errors	ENST00000267436	ensembl	human	known	74_37	silent	35.29	22	12	SNP	1.000	T	T	50735881	C	T	50735881	5	4	58	1	0	0	0	0	0	0	1	0	8618	666	23	1	501	1	L2HGDH	14	50735881	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3205168	50735881	56613659	1577	15960											
MAP4K5	11183	genome.wustl.edu	37	chr14	50886759	50886759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaactattttcatgtccaGccaagatgtagagattgctg	12	13	9	7	0	1	2	1	0	0	2	2	3	2	2	2	0	3	3	2	0	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:50886759G>T	ENST00000013125.4	-	32	2837	c.2519C>A	c.(2518-2520)gCt>gAt	p.A840D		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	840					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTCATGTCCAGCCAAGATGTA	0.353																																																	0													111	97	102					14																	50886759		1882	4114	5996	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2519C>A	14.37:g.50886759G>T	ENSP00000013125:p.Ala840Asp		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.A840D	ENST00000013125.4	37	c.2519		14	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364468	0.61513	.	.	ENSG00000012983	ENST00000013125	T	0.74632	-0.86	5.72	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.83275	0.885;0.996	D	0.86881	0.2042	10	0.72032	D	0.01	.	16.7197	0.85407	0.0:0.1295:0.8705:0.0	.	840;840	B2R928;Q9Y4K4	.;M4K5_HUMAN	D	840	ENSP00000013125:A840D	ENSP00000013125:A840D	A	-	2	0	MAP4K5	49956509	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.688000	0.98670	1.406000	0.46857	-0.302000	0.09304	GCT	MAP4K5	-	NULL	ENSG00000012983		0.353	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0	46	0	G	NM_006575		50886759	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	50886759	G	T	50886759	3	4	58	1	0	0	0	0	1	0	0	0	9301	971	34	3	25	3	MAP4K5	14	50886759	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	150878	50886759	56462781	1578	15961											
PYGL	5836	genome.wustl.edu	37	chr14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccgagcagaccagaggcGcatggtgttgacagtgttat	9	9	14	9	2	0	3	0	1	0	2	0	4	0	3	2	2	2	4	2	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:51387719G>A	ENST00000216392.7	-	6	1059	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PYGL_ENST00000544180.2_Missense_Mutation_p.R209C|PYGL_ENST00000532462.1_Missense_Mutation_p.R243C	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	243					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GACCAGAGGCGCATGGTGTTG	0.498																																																	0													106	104	105					14																	51387719		2203	4300	6503	SO:0001583	missense	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.727C>T	14.37:g.51387719G>A	ENSP00000216392:p.Arg243Cys		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.R243C	ENST00000216392.7	37	c.727	CCDS32080.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547610	0.86022	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.96232	-3.95;-3.95;-3.95	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99267	1.0892	10	0.87932	D	0	-0.3184	19.3504	0.94381	0.0:0.0:1.0:0.0	.	209;243;243	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	C	243;209;243	ENSP00000431657:R243C;ENSP00000443787:R209C;ENSP00000216392:R243C	ENSP00000216392:R243C	R	-	1	0	PYGL	50457469	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.626000	0.46460	2.885000	0.99019	0.655000	0.94253	CGC	PYGL	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100504		0.498	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3	-	0	79	0	G	NM_002863		51387719	-1	tier1	-	no_errors	ENST00000216392	ensembl	human	known	74_37	missense	41.51	30	22	SNP	1.000	A	A	51387719	G	A	51387719	3	1	58	1	0	0	0	0	1	0	0	0	12906	1087	38	1	1876	1	PYGL	14	51387719	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	500960	51387719	55961821	1579	15962											
FRMD6	122786	genome.wustl.edu	37	chr14	52156598	52156598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagagtcatgcaagaccGccgcagtgtgtgcattttcc	10	9	10	12	2	1	2	1	0	0	2	2	2	2	2	3	0	3	3	3	0	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:52156598G>T	ENST00000344768.5	+	2	240	c.44G>T	c.(43-45)cGc>cTc	p.R15L	RNA5SP385_ENST00000515947.1_RNA|FRMD6_ENST00000395718.2_Missense_Mutation_p.R15L|FRMD6_ENST00000356218.4_Missense_Mutation_p.R15L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	15					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGCAAGACCGCCGCAGTGTG	0.423																																																	0													107	89	95					14																	52156598		2203	4300	6503	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.44G>T	14.37:g.52156598G>T	ENSP00000343899:p.Arg15Leu		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.R15L	ENST00000344768.5	37	c.44	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542800	0.86022	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554778	T;T;T	0.78707	-1.2;-1.2;-0.99	5.87	5.87	0.94306	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.27053	0.805	0.80722	D	1	B;P	0.36633	0.426;0.562	B;B	0.36418	0.112;0.224	T	0.69320	-0.5176	10	0.40728	T	0.16	.	18.9758	0.92736	0.0:0.0:1.0:0.0	.	15;15	Q96NE9;Q96NE9-2	FRMD6_HUMAN;.	L	15	ENSP00000348550:R15L;ENSP00000379068:R15L;ENSP00000343899:R15L	ENSP00000343899:R15L	R	+	2	0	FRMD6	51226348	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.988000	0.93501	2.779000	0.95612	0.591000	0.81541	CGC	FRMD6	-	smart_Band_41_domain	ENSG00000139926		0.423	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1		0	51	0	G	NM_152330		52156598	1			no_errors	ENST00000344768	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	52156598	G	T	52156598	3	4	58	1	0	0	0	0	1	0	0	0	6078	1087	38	2	46	2	FRMD6	14	52156598	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	768879	52156598	55192942	1580	15963											
FERMT2	10979	genome.wustl.edu	37	chr14	53360081	53360082	+	Frame_Shift_Ins	INS	-	-	T																															actggtcatctagcttcttcINSttttttttctttgttggatc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:53360081_53360082insT	ENST00000395631.2	-	4	671_672	c.455_456insA	c.(454-456)aagfs	p.K152fs	FERMT2_ENST00000343279.4_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000341590.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000399304.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000553373.1_Frame_Shift_Ins_p.K152fs			Q96AC1	FERM2_HUMAN	fermitin family member 2	152					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.K152K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTAGCTTCTTCTTTTTTTTCTT	0.381																																																	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"Fermitins", "Pleckstrin homology (PH) domain containing"	15767	protein-coding gene	gene with protein product	"kindlin-2"	607746	"pleckstrin homology domain containing, family C (with FERM domain) member 1", "fermitin family homolog 2 (Drosophila)"	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.456dupA	14.37:g.53360089_53360089dupT	ENSP00000378993:p.Lys152fs		B5TJY2|Q14840|Q86TY7	Frame_Shift_Ins	INS	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K153fs	ENST00000395631.2	37	c.456_455	CCDS9713.1	14																																																																																			FERMT2	-	pfam_FERM_N,smart_Band_41_domain	ENSG00000073712		0.381	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2		0	34	0	-	NM_006832		53360082	-1	tier1		no_errors	ENST00000343279	ensembl	human	known	74_37	frame_shift_ins	26.67	22	8	INS	1.000:1.000	T	T	53360082	-	T	53360081	7	5	58	1	0	1	1	0	0	0	0	0	5840	912	32	0	1671	0	FERMT2	14	53360081	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1203483	53360081	53989459	1581	15964											
DDHD1	80821	genome.wustl.edu	37	chr14	53570518	53570518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttcttcctcttctagagGctgccaagtgccgtcaataa	9	13	7	12	1	4	1	1	0	3	1	5	1	5	1	3	1	2	1	3	1	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:53570518G>T	ENST00000323669.5	-	2	894	c.895C>A	c.(895-897)Cct>Act	p.P299T	DDHD1_ENST00000395606.1_Missense_Mutation_p.P299T|DDHD1_ENST00000357758.3_Missense_Mutation_p.P299T	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	299					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTTCTAGAGGCTGCCAAGTG	0.368																																																	0													75	69	71					14																	53570518		2203	4300	6503	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.895C>A	14.37:g.53570518G>T	ENSP00000327104:p.Pro299Thr		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.P299T	ENST00000323669.5	37	c.895	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678332	0.88542	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610;ENST00000556910	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.972;0.998	D	0.85719	0.1324	9	0.66056	D	0.02	-12.6446	19.2282	0.93825	0.0:0.0:1.0:0.0	.	299;299;299	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	T	299;299;299;170;13	.	ENSP00000327104:P299T	P	-	1	0	DDHD1	52640268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.386000	0.97228	2.621000	0.88768	0.591000	0.81541	CCT	DDHD1	-	NULL	ENSG00000100523		0.368	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	-	0	49	0	G			53570518	-1	tier1	-	no_errors	ENST00000323669	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	53570518	G	T	53570518	3	4	58	1	0	0	0	0	1	0	0	0	4335	1203	42	3	1880	3	DDHD1	14	53570518	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	210437	53570518	53779022	1582	15965											
DLGAP5	9787	genome.wustl.edu	37	chr14	55625371	55625371	+	Frame_Shift_Del	DEL	T	T	-																															taattctctctctcattgcaTtttttatggcagctaggcga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:55625371delT	ENST00000247191.2	-	14	1958	c.1742delA	c.(1741-1743)aatfs	p.N581fs	DLGAP5_ENST00000395425.2_Frame_Shift_Del_p.N581fs	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	581					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTCATTGCATTTTTTATGGC	0.393																																																	0													116	103	107					14																	55625371		2202	4300	6502	SO:0001589	frameshift_variant	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1742delA	14.37:g.55625371delT	ENSP00000247191:p.Asn581fs		A8MTM6|B4DRM8|Q86T11|Q8NG58	Frame_Shift_Del	DEL	pfam_GKAP	p.N581fs	ENST00000247191.2	37	c.1742	CCDS9723.1	14																																																																																			DLGAP5	-	pfam_GKAP	ENSG00000126787		0.393	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2		0	67	0	T	NM_014750		55625371	-1	tier1		no_errors	ENST00000247191	ensembl	human	known	74_37	frame_shift_del	34.21	50	26	DEL	0.680	-	-	55625371	T	-	55625371	7	5	58	1	0	1	0	1	0	0	0	0	4577	1493	52	0	917	0	DLGAP5	14	55625371	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	2054853	55625371	51724169	1583	15966											
JKAMP	51528	genome.wustl.edu	37	chr14	59961902	59961902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaacccaagtccagattacGttaccacagtacactgtact	14	9	5	13	1	0	1	0	0	0	1	1	1	1	1	3	0	5	3	3	0	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:59961902G>A	ENST00000261247.9	+	4	565	c.418G>A	c.(418-420)Gtt>Att	p.V140I	JKAMP_ENST00000356057.5_Missense_Mutation_p.V148I|JKAMP_ENST00000556985.1_Missense_Mutation_p.V140I|JKAMP_ENST00000425728.2_Missense_Mutation_p.V134I|JKAMP_ENST00000554271.1_Missense_Mutation_p.V154I|RP11-701B16.2_ENST00000554253.1_RNA	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	155					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TCCAGATTACGTTACCACAGT	0.373																																																	0													185	166	172					14																	59961902		1918	4131	6049	SO:0001583	missense	0			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"Jun N-terminal kinase 1-associated membrane protein"	611176	"chromosome 14 open reading frame 100"	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.418G>A	14.37:g.59961902G>A	ENSP00000261247:p.Val140Ile		B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	pfam_DUF766	p.V148I	ENST00000261247.9	37	c.442	CCDS45116.1	14	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922296	0.17982	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000556985;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.4	-2.02	0.07388	.	0.450752	0.25211	N	0.032316	T	0.18087	0.0434	N	0.04880	-0.145	0.22745	N	0.998789	B;B;B;B;B	0.11235	0.004;0.001;0.001;0.003;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.001;0.002;0.001	T	0.23226	-1.0194	9	0.15066	T	0.55	-28.3493	12.8632	0.57926	0.5312:0.0:0.4688:0.0	.	155;154;134;148;140	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	I	140;134;140;154;148;148	.	ENSP00000261247:V140I	V	+	1	0	JKAMP	59031655	0.006000	0.16342	0.000000	0.03702	0.440000	0.31957	0.063000	0.14410	-0.354000	0.08212	0.655000	0.94253	GTT	JKAMP	-	pfam_DUF766	ENSG00000050130		0.373	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	JKAMP	HGNC	protein_coding	OTTHUMT00000411430.1	-	0	107	0	G	NM_001098625		59961902	1	tier1	-	no_errors	ENST00000356057	ensembl	human	known	74_37	missense	29.06	83	34	SNP	0.002	A	A	59961902	G	A	59961902	3	1	58	1	0	0	0	0	1	0	0	0	7976	1145	40	1	432	1	JKAMP	14	59961902	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4336531	59961902	47387638	1584	15967											
C14orf135	64430	genome.wustl.edu	37	chr14	60591260	60591260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactgaaaataaagggaaaGcacctctaatgttgcctgct	15	9	8	9	0	1	1	0	1	1	0	1	2	1	2	2	1	3	3	2	1	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:60591260G>A	ENST00000406854.1	+	9	2925	c.2371G>A	c.(2371-2373)Gca>Aca	p.A791T	PCNXL4_ENST00000317623.4_Missense_Mutation_p.A557T|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A557T|PCNXL4_ENST00000404681.2_Missense_Mutation_p.A791T|PCNXL4_ENST00000535349.1_5'UTR			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	791						integral component of membrane (GO:0016021)											TAAAGGGAAAGCACCTCTAAT	0.403																																																	0													118	127	124					14																	60591260		2203	4299	6502	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 135"	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2371G>A	14.37:g.60591260G>A	ENSP00000384801:p.Ala791Thr		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.A791T	ENST00000406854.1	37	c.2371		14	.	.	.	.	.	.	.	.	.	.	G	1.801	-0.476996	0.04414	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.21932	1.99;1.99;1.98;1.99	5.39	-2.16	0.07080	.	1.450760	0.03470	N	0.213548	T	0.14184	0.0343	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.10377	T	0.69	.	2.1912	0.03899	0.1576:0.2061:0.4267:0.2095	.	791;557	Q63HM2;B5MC47	CN135_HUMAN;.	T	557;791;557;791	ENSP00000317396:A557T;ENSP00000384801:A791T;ENSP00000385201:A557T;ENSP00000385713:A791T	ENSP00000317396:A557T	A	+	1	0	C14orf135	59661013	0.003000	0.15002	0.000000	0.03702	0.288000	0.27193	0.827000	0.27421	-0.047000	0.13423	0.650000	0.86243	GCA	PCNXL4	-	NULL	ENSG00000126773		0.403	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	-	0	15	0	G	NM_022495		60591260	1	tier1	-	no_errors	ENST00000404681	ensembl	human	known	74_37	missense	50.00	12	12	SNP	0.000	A	A	60591260	G	A	60591260	3	1	58	1	0	0	0	0	1	0	0	0	1750	971	34	3	1695	3	C14orf135	14	60591260	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	629358	60591260	46758280	1585	15968											
HIF1A	3091	genome.wustl.edu	37	chr14	62207881	62207881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccaagaagccctaacGtgttatctgtcgctttgagt	9	13	8	11	2	2	2	1	1	1	1	4	2	3	2	2	0	2	2	2	0	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:62207881G>A	ENST00000337138.4	+	12	2333	c.2068G>A	c.(2068-2070)Gtg>Atg	p.V690M	HIF1A_ENST00000539097.1_Missense_Mutation_p.V714M|HIF1A_ENST00000394997.1_Missense_Mutation_p.V691M|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.V631M|HIF1A_ENST00000323441.6_Missense_Mutation_p.V690M	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	690	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.V690M(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AAGCCCTAACGTGTTATCTGT	0.343																																																	1	Substitution - Missense(1)	breast(1)											85	78	80					14																	62207881		2203	4300	6503	SO:0001583	missense	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"Basic helix-loop-helix proteins"	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2068G>A	14.37:g.62207881G>A	ENSP00000338018:p.Val690Met		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.V714M	ENST00000337138.4	37	c.2140	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689407	0.29962	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.54866	0.71;0.71;0.55;0.71;0.71	5.72	1.69	0.24217	.	3.354900	0.00465	N	0.000111	T	0.34832	0.0911	N	0.14661	0.345	0.21652	N	0.999601	B;B;B	0.30281	0.012;0.275;0.275	B;B;B	0.19148	0.002;0.024;0.024	T	0.22556	-1.0213	10	0.35671	T	0.21	.	6.8675	0.24102	0.0:0.3386:0.2994:0.362	.	691;690;690	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	M	441;631;690;691;690;631;714	ENSP00000338018:V690M;ENSP00000378446:V691M;ENSP00000323326:V690M;ENSP00000451696:V631M;ENSP00000437955:V714M	ENSP00000323326:V690M	V	+	1	0	HIF1A	61277634	0.889000	0.30405	0.989000	0.46669	0.958000	0.62258	1.095000	0.30964	0.389000	0.25086	0.650000	0.86243	GTG	HIF1A	-	NULL	ENSG00000100644		0.343	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0	25	0	G	NM_001530		62207881	1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	59.26	11	16	SNP	0.810	A	A	62207881	G	A	62207881	3	1	58	1	0	0	0	0	1	0	0	0	7130	1145	40	1	2114	1	HIF1A	14	62207881	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1616621	62207881	45141659	1586	15969											
SYNE2	23224	genome.wustl.edu	37	chr14	64450606	64450606	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttataatcaaaatataaaggTaaaataatcatactttgtat	20	15	3	3	0	2	0	2	0	0	0	2	0	2	0	0	1	1	2	0	1	12	9			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:64450606T>C	ENST00000344113.4	+	18	2363		c.e18+2		SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATATAAAGGTAAAATAATCA	0.289																																																	0													13	12	12					14																	64450606		1768	4015	5783	SO:0001630	splice_region_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2151+2T>C	14.37:g.64450606T>C			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	-	e17+2	ENST00000344113.4	37	c.2151+2	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102820	0.37145	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4422	0.61119	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63520359	1.000000	0.71417	0.969000	0.41365	0.273000	0.26683	4.048000	0.57390	2.232000	0.73038	0.528000	0.53228	.	SYNE2	-	-	ENSG00000054654		0.289	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	39	0	T	NM_182914	Intron	64450606	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	splice_site	36.76	43	25	SNP	1.000	C	C	64450606	T	C	64450606	5	2	58	1	0	0	0	0	0	0	1	0	15493	1652	57	4	2219	4	SYNE2	14	64450606	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2242725	64450606	42898934	1587	15970											
HSPA2	3306	genome.wustl.edu	37	chr14	65009180	65009180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgaggcgaatcgcgaccGagtcgcggccaaaaacgccc	12	3	13	13	7	0	2	0	1	0	1	2	5	0	2	3	2	1	0	3	2	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:65009180G>A	ENST00000394709.1	+	2	1689	c.1613G>A	c.(1612-1614)cGa>cAa	p.R538Q	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.R538Q			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	538					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AATCGCGACCGAGTCGCGGCC	0.542																																					Pancreas(136;1211 1835 24894 31984 38227)												0													76	78	77					14																	65009180		2203	4300	6503	SO:0001583	missense	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"Heat shock proteins / HSP70"	5235	protein-coding gene	gene with protein product		140560	"heat shock 70kD protein 2"				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1613G>A	14.37:g.65009180G>A	ENSP00000378199:p.Arg538Gln		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R538Q	ENST00000394709.1	37	c.1613	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053565	0.36277	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.04758	3.56;3.56	5.31	5.31	0.75309	.	0.000000	0.56097	U	0.000033	T	0.11793	0.0287	M	0.80508	2.5	0.24690	N	0.99332	B	0.29590	0.25	B	0.28232	0.087	T	0.05241	-1.0897	10	0.87932	D	0	-6.5779	19.05	0.93039	0.0:0.0:1.0:0.0	.	538	P54652	HSP72_HUMAN	Q	538;538;312	ENSP00000378199:R538Q;ENSP00000247207:R538Q	ENSP00000247207:R538Q	R	+	2	0	HSPA2	64078933	0.980000	0.34600	0.978000	0.43139	0.073000	0.16967	4.388000	0.59633	2.502000	0.84385	0.558000	0.71614	CGA	HSPA2	-	pfam_Hsp_70_fam	ENSG00000126803		0.542	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	-	0	18	0	G			65009180	1	tier1	-	no_errors	ENST00000247207	ensembl	human	known	74_37	missense	61.11	7	11	SNP	0.987	A	A	65009180	G	A	65009180	3	1	58	1	0	0	0	0	1	0	0	0	7438	1058	37	1	1615	1	HSPA2	14	65009180	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	558574	65009180	42340360	1588	15971											
PLEKHG3	26030	genome.wustl.edu	37	chr14	65194674	65194674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagacagagcgcatgtacGtacaggacctgcgcagcatc	11	6	13	11	3	0	2	0	0	0	2	1	4	0	3	1	2	5	5	1	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:65194674G>A	ENST00000394691.1	+	2	472	c.325G>A	c.(325-327)Gta>Ata	p.V109I	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.V109I			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	109	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGCATGTACGTACAGGACCT	0.622																																																	0													50	49	49					14																	65194674		2203	4300	6503	SO:0001583	missense	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.325G>A	14.37:g.65194674G>A	ENSP00000378183:p.Val109Ile		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V109I	ENST00000394691.1	37	c.325		14	.	.	.	.	.	.	.	.	.	.	G	30	5.054672	0.93793	.	.	ENSG00000126822	ENST00000555982;ENST00000247226;ENST00000394691;ENST00000554499	T;T;T;T	0.72167	-0.46;-0.63;-0.46;-0.46	5.18	5.18	0.71444	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.74298	0.3698	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.77608	-0.2524	10	0.51188	T	0.08	.	17.4602	0.87618	0.0:0.0:1.0:0.0	.	109;109	A1L390;A1L390-3	PKHG3_HUMAN;.	I	109	ENSP00000450501:V109I;ENSP00000247226:V109I;ENSP00000378183:V109I;ENSP00000451256:V109I	ENSP00000247226:V109I	V	+	1	0	PLEKHG3	64264427	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.542000	0.98086	2.405000	0.81733	0.462000	0.41574	GTA	PLEKHG3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000126822		0.622	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	-	0	52	0	G	NM_015549		65194674	1	tier1	-	no_errors	ENST00000394691	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A	A	65194674	G	A	65194674	3	1	58	1	0	0	0	0	1	0	0	0	12109	1145	40	1	327	1	PLEKHG3	14	65194674	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	185494	65194674	42154866	1589	15972											
RDH11	51109	genome.wustl.edu	37	chr14	68157945	68157945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcattgttgatcaaaacGtggaggtgcttttcctctgc	7	14	10	10	1	2	1	1	1	1	0	3	2	3	2	2	2	4	3	2	2	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:68157945G>A	ENST00000381346.4	-	4	476	c.366C>T	c.(364-366)caC>caT	p.H122H	RP11-1012A1.4_ENST00000554493.1_5'Flank|RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000553384.1_Silent_p.H109H|RDH11_ENST00000428130.2_Silent_p.H122H	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	122					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	TGATCAAAACGTGGAGGTGCT	0.488																																																	0													195	175	182					14																	68157945		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	17964	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 1", "androgen-regulated short-chain dehydrogenase/reductase 1"	607849	"retinol dehydrogenase 11 (all-trans and 9-cis)"			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.366C>T	14.37:g.68157945G>A			A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.H122	ENST00000381346.4	37	c.366	CCDS32104.1	14																																																																																			RDH11	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000072042		0.488	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH11	HGNC	protein_coding	OTTHUMT00000412257.3	-	0	45	0	G			68157945	-1	tier1	-	no_errors	ENST00000381346	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	A	A	68157945	G	A	68157945	2	1	58	1	0	0	0	0	0	0	0	1	13235	1136	40	1		1	RDH11	14	68157945	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2963271	68157945	39191595	1590	15973											
SMOC1	64093	genome.wustl.edu	37	chr14	70477591	70477591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctataagccagtgcaatGccaccagtccactggctact	11	9	7	14	0	1	0	0	0	1	0	2	0	2	0	4	1	4	2	4	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:70477591G>A	ENST00000381280.4	+	8	1038	c.785G>A	c.(784-786)tGc>tAc	p.C262Y	SMOC1_ENST00000361956.3_Missense_Mutation_p.C262Y	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	262	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAGTGCAATGCCACCAGTCC	0.627																																																	0													72	75	74					14																	70477591		2203	4300	6503	SO:0001583	missense	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.785G>A	14.37:g.70477591G>A	ENSP00000370680:p.Cys262Tyr		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.C262Y	ENST00000381280.4	37	c.785	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764653	0.90020	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	D;D	0.87571	-2.27;-2.27	5.47	5.47	0.80525	Thyroglobulin type-1 (5);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.996	D	0.96904	0.9662	10	0.87932	D	0	-19.5487	19.6781	0.95945	0.0:0.0:1.0:0.0	.	262;262	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	Y	262	ENSP00000355110:C262Y;ENSP00000370680:C262Y	ENSP00000355110:C262Y	C	+	2	0	SMOC1	69547344	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.813000	0.99286	2.728000	0.93425	0.557000	0.71058	TGC	SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.627	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1	-	0	20	0	G			70477591	1	tier1	-	no_errors	ENST00000361956	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	A	A	70477591	G	A	70477591	3	1	58	1	0	0	0	0	1	0	0	0	14846	1319	46	3	815	3	SMOC1	14	70477591	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2319646	70477591	36871949	1591	15974											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72055970	72055970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgcacaaatgcaggagtgGcagtacttgaagtgcccaag	13	8	12	8	0	0	1	0	1	0	0	0	2	0	2	1	2	4	4	1	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:72055970G>A	ENST00000555818.1	+	2	1729	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A461T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A461T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	461					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCAGGAGTGGCAGTACTTGA	0.428																																																	0													91	83	86					14																	72055970		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1381G>A	14.37:g.72055970G>A	ENSP00000450832:p.Ala461Thr		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.A461T	ENST00000555818.1	37	c.1381	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722571	0.89298	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78364	-1.17;-1.16;-1.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	L	0.52364	1.645	0.80722	D	1	P;D;P	0.62365	0.944;0.991;0.941	P;P;P	0.61201	0.548;0.885;0.508	D	0.85130	0.0974	10	0.87932	D	0	-20.7257	20.6593	0.99626	0.0:0.0:1.0:0.0	.	461;461;461	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	T	461	ENSP00000370630:A461T;ENSP00000450832:A461T;ENSP00000351352:A461T	ENSP00000351352:A461T	A	+	1	0	SIPA1L1	71125723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.529000	0.73812	2.885000	0.99019	0.655000	0.94253	GCA	SIPA1L1	-	NULL	ENSG00000197555		0.428	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1		0	35	0	G	NM_015556		72055970	1			no_errors	ENST00000555818	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	72055970	G	A	72055970	3	1	58	1	0	0	0	0	1	0	0	0	14374	1203	42	3	1383	3	SIPA1L1	14	72055970	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1578379	72055970	35293570	1592	15975											
DCAF4	26094	genome.wustl.edu	37	chr14	73407001	73407001	+	Frame_Shift_Del	DEL	C	C	-																															cctggacataacaactgcaaCcccctgacgaaagagagcat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:73407001delC	ENST00000358377.2	+	4	487	c.267delC	c.(265-267)aacfs	p.N89fs	DCAF4_ENST00000555042.1_Frame_Shift_Del_p.N89fs|DCAF4_ENST00000353777.3_Frame_Shift_Del_p.N89fs|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000509153.1_Frame_Shift_Del_p.N89fs	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	89					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						ACAACTGCAACCCCCTGACGA	0.502																																																	0													110	108	109					14																	73407001		2203	4300	6503	SO:0001589	frameshift_variant	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20229	protein-coding gene	gene with protein product			"WD repeat domain 21", "WD repeat domain 21A"	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.267delC	14.37:g.73407001delC	ENSP00000351147:p.Asn89fs		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L91fs	ENST00000358377.2	37	c.267	CCDS9809.1	14																																																																																			DCAF4	-	NULL	ENSG00000119599		0.502	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1		0	74	0	C	NM_015604		73407001	1	tier1		no_errors	ENST00000358377	ensembl	human	known	74_37	frame_shift_del	10.61	59	7	DEL	1.000	-	-	73407001	C	-	73407001	7	5	58	1	0	1	0	1	0	0	0	0	4279	506	18	0	277	0	DCAF4	14	73407001	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1351031	73407001	33942539	1593	15976											
PAPLN	89932	genome.wustl.edu	37	chr14	73720568	73720568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggcatccaggaggccGtggaggaggctgagtgtgcc	6	5	20	10	2	0	1	0	1	0	0	1	4	1	4	4	7	1	2	4	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:73720568G>A	ENST00000554301.1	+	11	1364	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	PAPLN_ENST00000427855.1_Missense_Mutation_p.V401M|PAPLN_ENST00000381166.3_Missense_Mutation_p.V401M|PAPLN_ENST00000555445.1_Missense_Mutation_p.V401M|PAPLN_ENST00000340738.5_Missense_Mutation_p.V374M			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	401	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCAGGAGGCCGTGGAGGAGGC	0.697																																																	0													36	38	38					14																	73720568		2203	4300	6503	SO:0001583	missense	0			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1201G>A	14.37:g.73720568G>A	ENSP00000451803:p.Val401Met		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.V401M	ENST00000554301.1	37	c.1201		14	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681620	0.14907	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.1	-0.603	0.11630	.	.	.	.	.	T	0.46171	0.1379	M	0.72894	2.215	0.09310	N	1	P;P;P	0.49358	0.827;0.857;0.923	B;B;B	0.35770	0.082;0.134;0.21	T	0.44787	-0.9305	9	0.72032	D	0.01	.	11.2046	0.48762	0.3635:0.0:0.6365:0.0	.	401;401;374	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	M	374;401;401;401;401	ENSP00000345395:V374M;ENSP00000403403:V401M;ENSP00000370558:V401M;ENSP00000451803:V401M;ENSP00000451729:V401M	ENSP00000216658:V401M	V	+	1	0	PAPLN	72790321	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	0.846000	0.27682	-0.031000	0.13781	0.462000	0.41574	GTG	PAPLN	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000100767		0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	-	0	70	0	G	NM_173462		73720568	1	tier1	-	no_errors	ENST00000427855	ensembl	human	known	74_37	missense	41.89	43	31	SNP	0.000	A	A	73720568	G	A	73720568	3	1	58	1	0	0	0	0	1	0	0	0	11467	1145	40	1	1158	1	PAPLN	14	73720568	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	313567	73720568	33628972	1594	15977											
PAPLN	89932	genome.wustl.edu	37	chr14	73729128	73729128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggctgcccgctggtacttCgttgcctctgtgggccaatg	3	12	14	12	2	1	0	0	0	1	0	2	0	1	0	3	3	3	4	3	3	2	3	rs144000569		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:73729128C>T	ENST00000554301.1	+	18	2479	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000427855.1_Silent_p.F772F|PAPLN_ENST00000381166.3_Silent_p.F772F|PAPLN_ENST00000555445.1_Silent_p.F756F|PAPLN_ENST00000340738.5_Silent_p.F745F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	772	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCTGGTACTTCGTTGCCTCTG	0.602																																																	0								C		0,4406		0,0,2203	59	59	59		2235	3.5	0.7	14	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PAPLN	NM_173462.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		745/1252	73729128	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"Immunoglobulin superfamily / I-set domain containing"	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2316C>T	14.37:g.73729128C>T			B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.F772	ENST00000554301.1	37	c.2316		14																																																																																			PAPLN	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000100767		0.602	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	-	0	74	0	C	NM_173462		73729128	1	tier1	rs144000569	no_errors	ENST00000427855	ensembl	human	known	74_37	silent	39.68	38	25	SNP	0.968	T	T	73729128	C	T	73729128	2	4	58	1	0	0	0	0	0	0	0	1	11467	883	31	1		1	PAPLN	14	73729128	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	8560	73729128	33620412	1595	15978											
C14orf43	91748	genome.wustl.edu	37	chr14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-																															tctgggttcatatctgggttGggggggaaggggtagggtgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:74205773delG	ENST00000286523.5	-	2	1721	c.939delC	c.(937-939)cccfs	p.P313fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	313	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TATCTGGGTTGGGGGGGAAGG	0.662																																																	0													21	22	22					14																	74205773		2203	4299	6502	SO:0001589	frameshift_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.939delC	14.37:g.74205773delG	ENSP00000286523:p.Pro313fs		Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.N314fs	ENST00000286523.5	37	c.939	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL	ENSG00000156030		0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1		0	50	0	G	NM_194278		74205773	-1	tier1		no_errors	ENST00000286523	ensembl	human	known	74_37	frame_shift_del	41.67	14	10	DEL	0.000	-	-	74205773	G	-	74205773	7	5	58	1	0	1	0	1	0	0	0	0	1779	1335	47	0	2242	0	C14orf43	14	74205773	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	476645	74205773	33143767	1596	15979											
LTBP2	4053	genome.wustl.edu	37	chr14	74995695	74995695	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatttctcacactcgctGccccatgctttgcccacgcg	5	10	9	17	3	1	0	1	0	1	0	3	0	1	0	3	1	3	3	3	1	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:74995695G>A	ENST00000261978.4	-	11	2504	c.2118C>T	c.(2116-2118)ggC>ggT	p.G706G	LTBP2_ENST00000556690.1_Silent_p.G706G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	706	TB 2.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACACTCGCTGCCCCATGCTT	0.632																																																	0													33	27	29					14																	74995695		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2118C>T	14.37:g.74995695G>A			Q99907|Q9NS51	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G706	ENST00000261978.4	37	c.2118	CCDS9831.1	14																																																																																			LTBP2	-	pfam_TB_dom,superfamily_TB_dom	ENSG00000119681		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	-	0	68	0	G	NM_000428		74995695	-1	tier1	-	no_errors	ENST00000261978	ensembl	human	known	74_37	silent	38.00	31	19	SNP	0.176	A	A	74995695	G	A	74995695	2	1	58	1	0	0	0	0	0	0	0	1	9109	1306	46	3		3	LTBP2	14	74995695	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	789922	74995695	32353845	1597	15980											
YLPM1	56252	genome.wustl.edu	37	chr14	75248115	75248115	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttaccaagaatgggagCgagagtttcagctatgggag	12	10	13	6	1	2	2	1	0	1	2	2	5	2	4	1	2	3	2	1	2	4	4	rs564055671		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:75248115C>T	ENST00000552421.1	+	4	1493	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.R457*|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAATGGGAGCGAGAGTTTCA	0.428																																																	0													39	37	38					14																	75248115		1913	4136	6049	SO:0001587	stop_gained	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1369C>T	14.37:g.75248115C>T	ENSP00000447921:p.Arg457*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.R457*	ENST00000552421.1	37	c.1369		14	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701403	0.88924	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.81	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5188	0.67838	0.5094:0.4906:0.0:0.0	.	.	.	.	X	457;457;170	.	ENSP00000324463:R457X	R	+	1	2	YLPM1	74317868	0.941000	0.31946	1.000000	0.80357	0.999000	0.98932	0.401000	0.20948	0.313000	0.23062	0.591000	0.81541	CGA	YLPM1	-	NULL	ENSG00000119596		0.428	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0	53	0	C	NM_019589		75248115	1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	nonsense	50.00	29	29	SNP	0.974	T	T	75248115	C	T	75248115	4	4	58	1	0	0	0	0	0	1	0	0	17535	760	27	1	1383	1	YLPM1	14	75248115	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	252420	75248115	32101425	1598	15981											
BATF	10538	genome.wustl.edu	37	chr14	76012833	76012833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctggagaaacagaacgCggctctacgcaaggagatca	15	4	12	10	3	2	4	1	0	1	4	2	6	2	4	1	3	3	2	1	3	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:76012833C>T	ENST00000286639.6	+	3	455	c.197C>T	c.(196-198)gCg>gTg	p.A66V	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	66	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AAACAGAACGCGGCTCTACGC	0.612																																																	0													69	56	60					14																	76012833		2203	4300	6503	SO:0001583	missense	0			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.197C>T	14.37:g.76012833C>T	ENSP00000286639:p.Ala66Val			Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.A66V	ENST00000286639.6	37	c.197	CCDS9843.1	14	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034403	0.93575	.	.	ENSG00000156127	ENST00000286639	T	0.55052	0.54	5.61	5.61	0.85477	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.052350	0.85682	D	0.000000	T	0.64724	0.2624	L	0.38692	1.165	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.63444	-0.6636	10	0.46703	T	0.11	-9.1722	17.8178	0.88640	0.0:1.0:0.0:0.0	.	66	Q16520	BATF_HUMAN	V	66	ENSP00000286639:A66V	ENSP00000286639:A66V	A	+	2	0	BATF	75082586	1.000000	0.71417	0.927000	0.36925	0.991000	0.79684	7.044000	0.76578	2.636000	0.89361	0.655000	0.94253	GCG	BATF	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	ENSG00000156127		0.612	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF	HGNC	protein_coding	OTTHUMT00000413669.1	-	0	49	0	C	NM_006399		76012833	1	tier1	-	no_errors	ENST00000286639	ensembl	human	known	74_37	missense	43.33	16	13	SNP	1.000	T	T	76012833	C	T	76012833	3	4	58	1	0	0	0	0	1	0	0	0	1326	768	27	1	207	1	BATF	14	76012833	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	764718	76012833	31336707	1599	15982											
TMEM63C	57156	genome.wustl.edu	37	chr14	77685187	77685187	+	Frame_Shift_Del	DEL	G	G	-																															caccagacgacctgagtacaGggggaaggttacagaacatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:77685187delG	ENST00000298351.4	+	3	175	c.31delG	c.(31-33)gggfs	p.G12fs	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	12					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGAGTACAGGGGGAAGGTT	0.567																																																	0													52	58	56					14																	77685187		2025	4201	6226	SO:0001589	frameshift_variant	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.31delG	14.37:g.77685187delG	ENSP00000298351:p.Gly12fs		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Frame_Shift_Del	DEL	pfam_DUF221	p.G12fs	ENST00000298351.4	37	c.31	CCDS45141.1	14																																																																																			TMEM63C	-	NULL	ENSG00000165548		0.567	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1		0	62	0	G			77685187	1	tier1		no_errors	ENST00000298351	ensembl	human	known	74_37	frame_shift_del	35.56	29	16	DEL	0.000	-	-	77685187	G	-	77685187	7	5	58	1	0	1	0	1	0	0	0	0	16239	1000	35	0	33	0	TMEM63C	14	77685187	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	1672354	77685187	29664353	1600	15983											
SEL1L	6400	genome.wustl.edu	37	chr14	81945992	81945992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcaagaaatagacgacGcccaatttgcagagggctag	14	7	11	9	2	0	3	0	0	0	3	0	4	0	3	1	1	3	3	1	1	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:81945992G>A	ENST00000336735.4	-	20	2255	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	713	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G713G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AATAGACGACGCCCAATTTGC	0.433																																																	1	Substitution - coding silent(1)	endometrium(1)											96	94	95					14																	81945992		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2139C>T	14.37:g.81945992G>A			Q6UWT6|Q9P1T9|Q9UHK7	Silent	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.G713	ENST00000336735.4	37	c.2139	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	G	8.619	0.890896	0.17613	.	.	ENSG00000071537	ENST00000261258	.	.	.	6.04	-4.5	0.03493	.	.	.	.	.	T	0.45597	0.1350	.	.	.	0.41286	D	0.986945	.	.	.	.	.	.	T	0.56667	-0.7941	5	0.87932	D	0	.	0.4305	0.00470	0.2849:0.2845:0.1459:0.2846	.	.	.	.	C	74	.	ENSP00000261258:R74C	R	-	1	0	SEL1L	81015745	0.000000	0.05858	0.012000	0.15200	0.905000	0.53344	-0.696000	0.05104	-0.372000	0.07992	0.563000	0.77884	CGT	SEL1L	-	NULL	ENSG00000071537		0.433	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1	-	0	63	0	G	NM_005065		81945992	-1	tier1	-	no_errors	ENST00000336735	ensembl	human	known	74_37	silent	45.45	30	25	SNP	0.000	A	A	81945992	G	A	81945992	2	1	58	1	0	0	0	0	0	0	0	1	14055	1074	38	1		1	SEL1L	14	81945992	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4260805	81945992	25403548	1601	15984											
FLRT2	23768	genome.wustl.edu	37	chr14	86089811	86089811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcgatactgcaacagcagCgtgccagacctggagcactg	11	6	12	12	2	0	1	0	0	0	1	0	3	0	2	2	1	8	3	2	1	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:86089811C>T	ENST00000330753.4	+	2	2720	c.1953C>T	c.(1951-1953)agC>agT	p.S651S	FLRT2_ENST00000554746.1_Silent_p.S651S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	651					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCAACAGCAGCGTGCCAGACC	0.498																																																	0													187	191	190					14																	86089811		2183	4244	6427	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1953C>T	14.37:g.86089811C>T			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.S651	ENST00000330753.4	37	c.1953	CCDS9877.1	14																																																																																			FLRT2	-	NULL	ENSG00000185070		0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0	16	0	C			86089811	1	tier1	-	no_errors	ENST00000330753	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.922	T	T	86089811	C	T	86089811	2	4	58	1	0	0	0	0	0	0	0	1	5961	767	27	1		1	FLRT2	14	86089811	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4143819	86089811	21259729	1602	15985											
FOXN3	1112	genome.wustl.edu	37	chr14	89878615	89878615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcttcagcaagttcttgCtctcgtgcagccagttcagg	7	12	10	12	1	5	0	2	0	3	0	6	0	5	0	1	1	5	6	1	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:89878615C>T	ENST00000345097.4	-	2	322	c.206G>A	c.(205-207)aGc>aAc	p.S69N	RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000555353.1_Missense_Mutation_p.S69N|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.S69N|FOXN3_ENST00000557258.1_Missense_Mutation_p.S69N	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	69					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAAGTTCTTGCTCTCGTGCAG	0.577																																																	0													92	79	83					14																	89878615		2203	4300	6503	SO:0001583	missense	0				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"Forkhead boxes"	1928	protein-coding gene	gene with protein product		602628	"chromosome 14 open reading frame 116", "checkpoint suppressor 1"	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.206G>A	14.37:g.89878615C>T	ENSP00000343288:p.Ser69Asn		Q96II7|Q9UIE7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S69N	ENST00000345097.4	37	c.206	CCDS41977.1	14	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718151	0.68844	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000555855;ENST00000555034	T;T;T;T;D	0.95554	-0.13;-0.13;-0.13;-0.13;-3.74	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	M	0.77103	2.36	0.80722	D	1	B;B	0.20164	0.042;0.011	B;B	0.19391	0.025;0.011	D	0.92892	0.6332	10	0.34782	T	0.22	.	18.6345	0.91372	0.0:1.0:0.0:0.0	.	69;69	O00409;O00409-2	FOXN3_HUMAN;.	N	69	ENSP00000343288:S69N;ENSP00000261302:S69N;ENSP00000452005:S69N;ENSP00000452227:S69N;ENSP00000451135:S69N	ENSP00000261302:S69N	S	-	2	0	FOXN3	88948368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.702000	0.61817	2.416000	0.81992	0.555000	0.69702	AGC	FOXN3	-	NULL	ENSG00000053254		0.577	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	HGNC	protein_coding	OTTHUMT00000410902.2	-	0	44	0	C	NM_005197		89878615	-1	tier1	-	no_errors	ENST00000261302	ensembl	human	known	74_37	missense	27.27	32	12	SNP	1.000	T	T	89878615	C	T	89878615	3	4	58	1	0	0	0	0	1	0	0	0	6045	797	28	3	1290	3	FOXN3	14	89878615	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3788804	89878615	17470925	1603	15986											
GPR68	8111	genome.wustl.edu	37	chr14	91700596	91700596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagggagaagtggtaggCgttgaaaacgcccttggcga	11	6	17	7	3	0	2	0	1	0	1	0	5	0	3	1	5	1	2	1	5	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:91700596C>T	ENST00000531499.2	-	2	1138	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.A267T|GPR68_ENST00000238699.3_Missense_Mutation_p.A277T			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	267					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AAGTGGTAGGCGTTGAAAACG	0.647																																																	0													24	21	22					14																	91700596		2192	4283	6475	SO:0001583	missense	0			U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"GPCR / Class A : Orphans"	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.799G>A	14.37:g.91700596C>T	ENSP00000434045:p.Ala267Thr		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.A277T	ENST00000531499.2	37	c.829	CCDS9894.2	14	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739422	0.30774	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.26	0.487	0.16842	GPCR, rhodopsin-like superfamily (1);	0.715972	0.13469	N	0.385591	T	0.24699	0.0599	L	0.38733	1.17	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.19666	0.026;0.026	T	0.23583	-1.0184	10	0.22109	T	0.4	.	7.9342	0.29920	0.0:0.5854:0.1142:0.3005	.	267;267	Q6NWR5;Q15743	.;OGR1_HUMAN	T	267;277;267;267	ENSP00000434045:A267T;ENSP00000238699:A277T;ENSP00000440797:A267T;ENSP00000432740:A267T	ENSP00000238699:A277T	A	-	1	0	GPR68	90770349	0.133000	0.22466	0.803000	0.32268	0.970000	0.65996	0.214000	0.17541	0.583000	0.29574	0.555000	0.69702	GCC	GPR68	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000119714		0.647	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	HGNC	protein_coding	OTTHUMT00000395245.2	-	0	44	0	C			91700596	-1	tier1	-	no_errors	ENST00000238699	ensembl	human	known	74_37	missense	46.30	29	25	SNP	0.054	T	T	91700596	C	T	91700596	3	4	58	1	0	0	0	0	1	0	0	0	6733	768	27	1	302	1	GPR68	14	91700596	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1821981	91700596	15648944	1604	15987											
CHGA	1113	genome.wustl.edu	37	chr14	93392964	93392964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccaggtgatgaaatgcatCgttgaggtcatctccgacac	10	10	10	11	2	2	3	1	3	1	0	5	4	3	3	2	2	1	2	2	2	1	1	rs376854650		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:93392964C>T	ENST00000216492.5	+	3	388	c.108C>T	c.(106-108)atC>atT	p.I36I	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Silent_p.I36I	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	36					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGAAATGCATCGTTGAGGTCA	0.567																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0								C		0,4406		0,0,2203	103	77	86		108	0.9	1	14		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHGA	NM_001275.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		36/458	93392964	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.108C>T	14.37:g.93392964C>T			B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	pfam_Granin,prints_Chromogranin_AB	p.I36	ENST00000216492.5	37	c.108	CCDS9906.1	14																																																																																			CHGA	-	pfam_Granin,prints_Chromogranin_AB	ENSG00000100604		0.567	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	-	0	41	0	C	NM_001275		93392964	1	tier1	-	no_errors	ENST00000216492	ensembl	human	known	74_37	silent	27.50	29	11	SNP	0.998	T	T	93392964	C	T	93392964	2	4	58	1	0	0	0	0	0	0	0	1	3345	874	31	1		1	CHGA	14	93392964	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1692368	93392964	13956576	1605	15988											
SETD3	84193	genome.wustl.edu	37	chr14	99871696	99871696	+	Frame_Shift_Del	DEL	A	A	-																															tgcgttggatcgagtgccatAaaaaatgtaaatctgagatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:99871696delA	ENST00000331768.5	-	10	1096	c.937delT	c.(937-939)tatfs	p.Y313fs		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	313	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGAGTGCCATAAAAAATGTAA	0.398																																																	0													65	65	65					14																	99871696		2203	4300	6503	SO:0001589	frameshift_variant	0			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"chromosome 14 open reading frame 154"	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.937delT	14.37:g.99871696delA	ENSP00000327436:p.Tyr313fs		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Frame_Shift_Del	DEL	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.Y313fs	ENST00000331768.5	37	c.937	CCDS9951.1	14																																																																																			SETD3	-	pfam_SET_dom	ENSG00000183576		0.398	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3		0	42	0	A	NM_032233		99871696	-1	tier1		no_errors	ENST00000331768	ensembl	human	known	74_37	frame_shift_del	43.48	26	20	DEL	1.000	-	-	99871696	A	-	99871696	7	5	58	1	0	1	0	1	0	0	0	0	14177	362	13	0	863	0	SETD3	14	99871696	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	6478732	99871696	7477844	1606	15989											
CYP46A1	10858	genome.wustl.edu	37	chr14	100182232	100182232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggactgggtccagcGccgccgggaagccctgaaga	8	3	18	12	3	0	2	0	1	0	1	1	4	1	4	4	4	2	1	4	4	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:100182232G>A	ENST00000261835.3	+	8	883	c.779G>A	c.(778-780)cGc>cAc	p.R260H	CYP46A1_ENST00000554176.1_Missense_Mutation_p.R107H|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R163H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	260					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGGTCCAGCGCCGCCGGGAA	0.647																																																	0													27	32	30					14																	100182232		2203	4300	6503	SO:0001583	missense	0			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.779G>A	14.37:g.100182232G>A	ENSP00000261835:p.Arg260His		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R260H	ENST00000261835.3	37	c.779	CCDS9954.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710137	0.68730	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.37	4.37	0.52481	.	0.415075	0.25205	N	0.032349	T	0.61689	0.2367	L	0.46819	1.47	0.46298	D	0.99897	P;D	0.52996	0.883;0.957	B;B	0.43889	0.414;0.435	T	0.67488	-0.5658	10	0.62326	D	0.03	.	13.1522	0.59496	0.0:0.0:1.0:0.0	.	107;260	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	H	260;163;107;13	ENSP00000261835:R260H;ENSP00000405779:R163H;ENSP00000450553:R107H;ENSP00000451602:R13H	ENSP00000261835:R260H	R	+	2	0	CYP46A1	99251985	0.398000	0.25279	0.998000	0.56505	0.995000	0.86356	0.425000	0.21346	2.371000	0.80710	0.561000	0.74099	CGC	CYP46A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000036530		0.647	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1	-	0	64	0	G			100182232	1	tier1	-	no_errors	ENST00000261835	ensembl	human	known	74_37	missense	43.55	35	27	SNP	1.000	A	A	100182232	G	A	100182232	3	1	58	1	0	0	0	0	1	0	0	0	4191	1087	38	1	809	1	CYP46A1	14	100182232	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	310536	100182232	7167308	1607	15990											
YY1	7528	genome.wustl.edu	37	chr14	100728643	100728644	+	Frame_Shift_Ins	INS	-	-	A																															ctcatgatgtgtttcagatgINSaaaaaaaagatattgaccat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:100728643_100728644insA	ENST00000262238.4	+	2	942_943	c.682_683insA	c.(682-684)gaafs	p.E228fs	RP11-638I2.2_ENST00000555212.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	228					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTTTCAGATGAAAAAAAAGAT	0.327																																																	0																																										SO:0001589	frameshift_variant	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.690dupA	14.37:g.100728651_100728651dupA	ENSP00000262238:p.Glu228fs		Q14935	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.D231fs	ENST00000262238.4	37	c.682_683	CCDS9957.1	14																																																																																			YY1	-	pirsf_TF_Yin_yang	ENSG00000100811		0.327	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1		0	55	0	-	NM_003403		100728644	1	tier1		no_errors	ENST00000262238	ensembl	human	known	74_37	frame_shift_ins	37.93	36	22	INS	1.000:1.000	A	A	100728644	-	A	100728643	7	5	58	1	0	1	1	0	0	0	0	0	17556	1291	45	0	688	0	YY1	14	100728643	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	546411	100728643	6620897	1608	15991											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102494139	102494139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggagggactcaaggacCgggcagctacatcaccagca	11	4	12	14	2	2	0	2	0	0	0	3	3	2	3	3	4	3	3	3	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:102494139C>T	ENST00000360184.4	+	47	9396	c.9232C>T	c.(9232-9234)Cgg>Tgg	p.R3078W		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3078	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTCAAGGACCGGGCAGCTAC	0.572																																																	0													131	124	126					14																	102494139		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9232C>T	14.37:g.102494139C>T	ENSP00000348965:p.Arg3078Trp		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R3078W	ENST00000360184.4	37	c.9232	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078910	0.76528	.	.	ENSG00000197102	ENST00000360184	T	0.57595	0.39	5.78	3.72	0.42706	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84193	0.0446	10	0.56958	D	0.05	.	13.4486	0.61155	0.4489:0.5511:0.0:0.0	.	3078	Q14204	DYHC1_HUMAN	W	3078	ENSP00000348965:R3078W	ENSP00000348965:R3078W	R	+	1	2	DYNC1H1	101563892	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	1.885000	0.39678	1.380000	0.46344	0.655000	0.94253	CGG	DYNC1H1	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197102		0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	67	0	C	NM_001376		102494139	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	49.09	28	27	SNP	1.000	T	T	102494139	C	T	102494139	3	4	58	1	0	0	0	0	1	0	0	0	4855	643	23	1	9418	1	DYNC1H1	14	102494139	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1765496	102494139	4855401	1609	15992											
ZNF839	55778	genome.wustl.edu	37	chr14	102802052	102802052	+	Frame_Shift_Del	DEL	T	T	-																															aaagatcatctagcaaagccTtttttcccagctatatataa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:102802052delT	ENST00000558850.1	+	5	1538	c.1188delT	c.(1186-1188)cctfs	p.P396fs	ZNF839_ENST00000442396.2_Frame_Shift_Del_p.P512fs|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.P396fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.P396fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	396							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAGCAAAGCCTTTTTTCCCAG	0.343																																																	0													58	51	53					14																	102802052		1818	4073	5891	SO:0001589	frameshift_variant	0			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 131"	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1188delT	14.37:g.102802052delT	ENSP00000453363:p.Pro396fs		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	pfscan_Znf_C2H2	p.F514fs	ENST00000558850.1	37	c.1536	CCDS58336.1	14																																																																																			ZNF839	-	NULL	ENSG00000022976		0.343	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2		0	146	0	T	NM_018335		102802052	1	tier1		no_errors	ENST00000442396	ensembl	human	known	74_37	frame_shift_del	16.67	95	19	DEL	0.519	-	-	102802052	T	-	102802052	7	5	58	1	0	1	0	1	0	0	0	0	18236	1596	56	0	1554	0	ZNF839	14	102802052	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	307913	102802052	4547488	1610	15993											
CYFIP1	23191	genome.wustl.edu	37	chr15	22945143	22945144	+	Frame_Shift_Del	DEL	GC	GC	-																															gcagctgttgtcgcagtggaGcgcgcacgtgatggaagtgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:22945143_22945144delGC	ENST00000313077.7	+	12	1339_1340	c.1214_1215delGC	c.(1213-1215)agcfs	p.S405fs	CYFIP1_ENST00000560848.1_Frame_Shift_Del_p.S405fs	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGCAGTGGAGCGCGCACGTGA	0.639																																																	0																																										SO:0001589	frameshift_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1214_1215delGC	15.37:g.22945147_22945148delGC	ENSP00000324549:p.Ser405fs			Frame_Shift_Del	DEL	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.H407fs	ENST00000313077.7	37	c.1214_1215	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.639	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2		0	31	0	GC	NM_014608		22945144	1	tier1		no_errors	ENST00000313077	ensembl	human	known	74_37	frame_shift_del	42.31	15	11	DEL	1.000:0.996	-	-	22945144	GC	-	22945143	7	5	58	1	0	1	0	1	0	0	0	0	4146	971	34	0	1256	0	CYFIP1	15	22945143	Frame_Shift_Del	DEL	GC	TCGA-L5-A4OI-01A-11D-A27G-09		22945143	79586249	1611	15994											
C15orf2	23742	genome.wustl.edu	37	chr15	24921798	24921798	+	Frame_Shift_Del	DEL	C	C	-																															ctgatccggatgcaacagcgCcccctgagccagccgttggc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:24921798delC	ENST00000329468.2	+	1	1258	c.784delC	c.(784-786)cccfs	p.P263fs		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	263					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGCAACAGCGCCCCCTGAGCC	0.642																																																	0													31	35	33					15																	24921798		2202	4300	6502	SO:0001589	frameshift_variant	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.784delC	15.37:g.24921798delC	ENSP00000333735:p.Pro263fs			Frame_Shift_Del	DEL	NULL	p.P263fs	ENST00000329468.2	37	c.784	CCDS10015.1	15																																																																																			NPAP1	-	NULL	ENSG00000185823		0.642	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1		0	18	0	C	NM_018958		24921798	1	tier1		no_errors	ENST00000329468	ensembl	human	known	74_37	frame_shift_del	36.36	21	12	DEL	0.001	-	-	24921798	C	-	24921798	7	5	58	1	0	1	0	1	0	0	0	0	1789	739	26	0	786	0	C15orf2	15	24921798	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1976655	24921798	77609594	1612	15995											
ATP10A	57194	genome.wustl.edu	37	chr15	25959230	25959230	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcatgccgtcgctggaCggggtggacgggaagctgga	9	5	19	8	4	0	1	0	0	0	1	1	5	0	5	1	6	3	3	1	6	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25959230C>T	ENST00000356865.6	-	10	2046	c.1935G>A	c.(1933-1935)ccG>ccA	p.P645P		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	645					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTCGCTGGACGGGGTGGACG	0.672																																																	0													42	45	44					15																	25959230		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1935G>A	15.37:g.25959230C>T			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.P645	ENST00000356865.6	37	c.1935	CCDS32178.1	15																																																																																			ATP10A	-	superfamily_HAD-like_dom	ENSG00000206190		0.672	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	196	0	C	NM_024490		25959230	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	silent	39.73	88	58	SNP	0.553	T	T	25959230	C	T	25959230	2	4	58	1	0	0	0	0	0	0	0	1	1117	523	19	1		1	ATP10A	15	25959230	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1037432	25959230	76572162	1613	15996											
ATP10A	57194	genome.wustl.edu	37	chr15	26107956	26107956	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgccggcacgaagttgagCagcgcgatgaagacaaagta	14	4	13	10	5	0	3	0	2	0	1	0	5	0	3	2	1	2	4	2	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:26107956C>A	ENST00000356865.6	-	1	399	c.288G>T	c.(286-288)ctG>ctT	p.L96L	RP11-2C7.1_ENST00000557558.1_lincRNA|ATP10A_ENST00000553577.1_5'Flank	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	96					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGAAGTTGAGCAGCGCGATGA	0.627																																																	0													71	52	59					15																	26107956		2203	4299	6502	SO:0001819	synonymous_variant	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.288G>T	15.37:g.26107956C>A			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L96	ENST00000356865.6	37	c.288	CCDS32178.1	15																																																																																			ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.627	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	80	0	C	NM_024490		26107956	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	silent	25.37	50	17	SNP	1.000	A	A	26107956	C	A	26107956	2	1	58	1	0	0	0	0	0	0	0	1	1117	697	25	3		3	ATP10A	15	26107956	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	148726	26107956	76423436	1614	15997											
GABRB3	2562	genome.wustl.edu	37	chr15	26806289	26806289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtctcccgaaggtgggtGttgatggttgtcattgtcag	7	13	15	6	1	3	1	2	1	1	0	4	2	3	1	1	4	0	2	1	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:26806289G>A	ENST00000311550.5	-	8	981	c.870C>T	c.(868-870)aaC>aaT	p.N290N	GABRB3_ENST00000541819.2_Silent_p.N346N|GABRB3_ENST00000400188.3_Silent_p.N219N|GABRB3_ENST00000545868.1_Silent_p.N205N|GABRB3_ENST00000299267.4_Silent_p.N290N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	290	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAGGTGGGTGTTGATGGTTG	0.473																																																	0													179	165	169					15																	26806289		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.870C>T	15.37:g.26806289G>A			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.N290	ENST00000311550.5	37	c.870	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000166206		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0	77	0	G			26806289	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	silent	41.56	45	32	SNP	1.000	A	A	26806289	G	A	26806289	2	1	58	1	0	0	0	0	0	0	0	1	6192	1368	48	3		3	GABRB3	15	26806289	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	698333	26806289	75725103	1615	15998											
HERC2	8924	genome.wustl.edu	37	chr15	28447658	28447658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcggatgtgctgcacggCgacaggcgtggtggcctcac	6	6	18	11	4	1	0	1	0	0	0	1	2	1	1	1	6	2	2	1	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:28447658C>T	ENST00000261609.7	-	46	7423	c.7315G>A	c.(7315-7317)Gcc>Acc	p.A2439T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCTGCACGGCGACAGGCGTG	0.622																																																	0													6	5	6					15																	28447658		2095	4102	6197	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7315G>A	15.37:g.28447658C>T	ENSP00000261609:p.Ala2439Thr			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.A2439T	ENST00000261609.7	37	c.7315	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	5.875	0.345652	0.11126	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	3.99	-2.96	0.05547	.	0.448802	0.22217	N	0.063007	T	0.08714	0.0216	N	0.01705	-0.755	0.25726	N	0.985323	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.10636	T	0.68	.	2.9245	0.05780	0.1315:0.1114:0.1442:0.6129	.	2439	O95714	HERC2_HUMAN	T	2439	ENSP00000261609:A2439T	ENSP00000261609:A2439T	A	-	1	0	HERC2	26121253	0.999000	0.42202	0.003000	0.11579	0.834000	0.47266	1.436000	0.34980	-0.274000	0.09232	-0.391000	0.06502	GCC	HERC2	-	NULL	ENSG00000128731		0.622	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	17	0	C	NM_004667		28447658	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.844	T	T	28447658	C	T	28447658	3	4	58	1	0	0	0	0	1	0	0	0	7085	768	27	1	7381	1	HERC2	15	28447658	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1641369	28447658	74083734	1616	15999											
RYR3	6263	genome.wustl.edu	37	chr15	34048506	34048506	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttacctgtgtcttcgtaGaagccattgtcagcagtggg	7	13	13	8	1	2	1	1	0	1	1	3	1	2	1	2	1	3	3	2	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:34048506G>T	ENST00000389232.4	+	59	8585		c.e59-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTCTTCGTAGAAGCCATTGT	0.393																																																	0													66	61	63					15																	34048506		1852	4108	5960	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8516-1G>T	15.37:g.34048506G>T			O15175|Q15412	Splice_Site	SNP	-	e59-1	ENST00000389232.4	37	c.8516-1	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.091643	0.94149	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8551	0.96755	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31835798	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.250000	0.95477	2.861000	0.98227	0.655000	0.94253	.	RYR3	-	-	ENSG00000198838		0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0	49	0	G		Intron	34048506	1			no_errors	ENST00000389232	ensembl	human	known	74_37	splice_site	6.52	43	3	SNP	1.000	T	T	34048506	G	T	34048506	5	4	58	1	0	0	0	0	0	0	1	0	13815	956	33	3	8749	3	RYR3	15	34048506	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5600848	34048506	68482886	1617	16000											
RYR3	6263	genome.wustl.edu	37	chr15	34112980	34112980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaaagtggtgaggatgaAgaagaagatgaagacaagga	18	6	15	2	0	1	7	1	3	0	4	1	9	1	9	0	3	0	0	0	3	6	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:34112980A>T	ENST00000389232.4	+	78	10852	c.10782A>T	c.(10780-10782)gaA>gaT	p.E3594D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3589D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3594					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGAGGATGAAGAAGAAGATG	0.413																																																	0													76	68	70					15																	34112980		1889	4125	6014	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10782A>T	15.37:g.34112980A>T	ENSP00000373884:p.Glu3594Asp		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E3594D	ENST00000389232.4	37	c.10782	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	10.88	1.476392	0.26511	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96992	-4.16;-4.2	5.12	4.01	0.46588	.	0.135030	0.49305	D	0.000147	D	0.90577	0.7046	L	0.41632	1.29	0.41135	D	0.985911	P;B	0.46859	0.885;0.006	B;B	0.38264	0.269;0.013	D	0.87020	0.2128	10	0.14656	T	0.56	.	5.7617	0.18203	0.8088:0.0:0.1912:0.0	.	3589;3594	Q15413-2;Q15413	.;RYR3_HUMAN	D	3594;3593;3589	ENSP00000373884:E3594D;ENSP00000399610:E3593D	ENSP00000354735:E3589D	E	+	3	2	RYR3	31900272	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.272000	0.43373	1.946000	0.56461	0.533000	0.62120	GAA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	73	0	A			34112980	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	44.87	43	35	SNP	1.000	T	T	34112980	A	T	34112980	3	4	58	1	0	0	0	0	1	0	0	0	13815	69	3	5	11092	5	RYR3	15	34112980	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	64474	34112980	68418412	1618	16001											
GOLGA8B	440270	genome.wustl.edu	37	chr15	34820022	34820022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacgctgttggtgaggctCgcctcacaaagatctttgga	8	11	11	11	2	2	2	1	1	1	1	4	3	3	3	2	3	0	3	2	3	1	2	rs541863143	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:34820022C>T	ENST00000342314.5	-	16	1720	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	GOLGA8B_ENST00000267731.7_Silent_p.A541A|MIR1233-2_ENST00000408138.1_RNA|GOLGA8B_ENST00000438958.2_Silent_p.A571A|GOLGA8A_ENST00000543376.1_Intron	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	541	Golgi-targeting domain.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGGTGAGGCTCGCCTCACAAA	0.627													c|||	2	0.000399361	0	0	5008	,	,		11902	0		0	False		,,,				2504	0.002																0													18	28	24					15																	34820022		2066	4233	6299	SO:0001819	synonymous_variant	0			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"golgi autoantigen, golgin subfamily a, 8B"				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.1623G>A	15.37:g.34820022C>T			A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Silent	SNP	NULL	p.A571	ENST00000342314.5	37	c.1713	CCDS45211.1	15																																																																																			GOLGA8B	-	NULL	ENSG00000215252		0.627	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA8B	HGNC	protein_coding	OTTHUMT00000251739.2	-	0	205	0	C	NM_001023567		34820022	-1	tier1	-	no_errors	ENST00000438958	ensembl	human	known	74_37	silent	21.08	131	35	SNP	1.000	T	T	34820022	C	T	34820022	2	4	58	1	0	0	0	0	0	0	0	1	6590	871	31	1		1	GOLGA8B	15	34820022	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	707042	34820022	67711370	1619	16002											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40280227	40280227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacgagacaccattgaccAgggactgtatcgagacaccg	12	8	10	11	3	0	3	0	1	0	2	1	6	0	4	3	1	1	1	3	1	2	4	rs370476691		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40280227A>G	ENST00000263791.5	+	15	2490	c.2447A>G	c.(2446-2448)cAg>cGg	p.Q816R	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.Q788R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	816	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACCATTGACCAGGGACTGTAT	0.398																																																	0								A	ARG/GLN	0,3786		0,0,1893	162	151	154		2447	5.8	1	15		154	2,8246		0,2,4122	no	missense	EIF2AK4	NM_001013703.2	43	0,2,6015	GG,GA,AA		0.0242,0.0,0.0166	benign	816/1650	40280227	2,12032	1893	4124	6017	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2447A>G	15.37:g.40280227A>G	ENSP00000263791:p.Gln816Arg		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.Q816R	ENST00000263791.5	37	c.2447	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846203	0.51164	0.0	2.42E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173324	0.52532	D	0.000069	T	0.45236	0.1332	N	0.20357	0.565	0.44611	D	0.997584	B	0.16166	0.016	B	0.19148	0.024	T	0.38023	-0.9680	10	0.20519	T	0.43	-18.6042	11.2329	0.48923	0.927:0.0:0.073:0.0	.	816	Q9P2K8	E2AK4_HUMAN	R	816;788	ENSP00000263791:Q816R;ENSP00000372174:Q788R	ENSP00000263791:Q816R	Q	+	2	0	EIF2AK4	38067519	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.846000	0.69444	2.226000	0.72624	0.482000	0.46254	CAG	EIF2AK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom	ENSG00000128829		0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0	83	0	A			40280227	1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	missense	49.23	33	32	SNP	1.000	G	G	40280227	A	G	40280227	3	3	58	1	0	0	0	0	1	0	0	0	5013	188	7	4	2505	4	EIF2AK4	15	40280227	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	5460205	40280227	62251165	1620	16003											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40309342	40309342	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttggtttacaaggtgCagcagcacaatggaatcatc	11	10	12	8	0	1	0	1	0	0	0	2	1	1	1	0	4	4	5	0	4	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40309342C>T	ENST00000263791.5	+	29	4007	c.3964C>T	c.(3964-3966)Cag>Tag	p.Q1322*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.Q1294*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1322	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTACAAGGTGCAGCAGCACAA	0.433																																																	0													181	164	169					15																	40309342		1901	4146	6047	SO:0001587	stop_gained	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3964C>T	15.37:g.40309342C>T	ENSP00000263791:p.Gln1322*		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.Q1322*	ENST00000263791.5	37	c.3964	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	C	42	9.543941	0.99201	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.97	5.97	0.96955	.	0.056827	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-9.5584	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	1322;1294	.	ENSP00000263791:Q1322X	Q	+	1	0	EIF2AK4	38096634	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	7.794000	0.85869	2.836000	0.97738	0.655000	0.94253	CAG	EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.433	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0	76	0	C			40309342	1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	40309342	C	T	40309342	4	4	58	1	0	0	0	0	0	1	0	0	5013	711	25	3	4078	3	EIF2AK4	15	40309342	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	29115	40309342	62222050	1621	16004											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40326639	40326639	+	Frame_Shift_Del	DEL	A	A	-																															aatttataacatcaaagtagAaaaaaagtaagttatcactt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40326639delA	ENST00000263791.5	+	38	4929	c.4886delA	c.(4885-4887)gaafs	p.E1629fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.E1601fs|SRP14_ENST00000558527.1_5'Flank	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1629					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATCAAAGTAGAAAAAAAGTAA	0.398																																																	0													69	63	65					15																	40326639		1832	4106	5938	SO:0001589	frameshift_variant	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4886delA	15.37:g.40326639delA	ENSP00000263791:p.Glu1629fs		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.K1631fs	ENST00000263791.5	37	c.4886	CCDS42016.1	15																																																																																			EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1		0	66	0	A			40326639	1	tier1		no_errors	ENST00000263791	ensembl	human	known	74_37	frame_shift_del	32.84	45	22	DEL	1.000	-	-	40326639	A	-	40326639	7	5	58	1	0	1	0	1	0	0	0	0	5013	246	9	0	5036	0	EIF2AK4	15	40326639	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	17297	40326639	62204753	1622	16005											
IVD	3712	genome.wustl.edu	37	chr15	40705232	40705232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaagaagctggacaagctgGggatgaggggctctaacacc	12	6	14	9	0	1	2	0	1	1	1	1	4	1	4	1	5	3	3	1	5	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40705232G>T	ENST00000249760.2	+	7	1073	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W	IVD_ENST00000487418.2_Missense_Mutation_p.G247W|IVD_ENST00000479013.2_Missense_Mutation_p.G217W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	244					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GGACAAGCTGGGGATGAGGGG	0.537																																					GBM(31;293 617 7486 32527 34655)												0													98	93	95					15																	40705232		2203	4300	6503	SO:0001583	missense	0			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.730G>T	15.37:g.40705232G>T	ENSP00000249760:p.Gly244Trp		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.G247W	ENST00000249760.2	37	c.739		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.968164|4.968164	0.92855|0.92855	.|.	.|.	ENSG00000128928|ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418;ENST00000497252|ENST00000473112	D;D;D|.	0.99282|.	-5.68;-5.68;-5.68|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92485|0.92485	0.7614|0.7614	H|H	0.99800|0.99800	4.79|4.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.95756|0.95756	0.8796|0.8796	10|5	0.87932|.	D|.	0|.	.|.	19.7344|19.7344	0.96195|0.96195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244;217|.	P26440;B3KVI7|.	IVD_HUMAN;.|.	W|C	244;217;247;14|163	ENSP00000249760:G244W;ENSP00000417990:G217W;ENSP00000418397:G247W|.	ENSP00000249760:G244W|.	G|W	+|+	1|3	0|0	IVD|IVD	38492524|38492524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.420000|9.420000	0.97426|0.97426	2.673000|2.673000	0.90976|0.90976	0.591000|0.591000	0.81541|0.81541	GGG|TGG	IVD	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000128928		0.537	IVD-201	KNOWN	basic|appris_candidate	protein_coding	IVD	HGNC	protein_coding		-	0	44	0	G			40705232	1	tier1	-	no_errors	ENST00000487418	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	40705232	G	T	40705232	3	4	58	1	0	0	0	0	1	0	0	0	7955	1232	43	3	765	3	IVD	15	40705232	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	378593	40705232	61826160	1623	16006											
INO80	54617	genome.wustl.edu	37	chr15	41371904	41371904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcttttgccctacctcccGcatttcctcatccaacttcc	6	14	3	18	1	1	0	1	0	0	0	5	0	5	0	6	0	4	2	6	0	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41371904G>A	ENST00000361937.3	-	9	1550	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	INO80_ENST00000401393.3_Missense_Mutation_p.R376W			Q9ULG1	INO80_HUMAN	INO80 complex subunit	376	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTACCTCCCGCATTTCCTCA	0.418																																																	0													247	259	255					15																	41371904		2203	4300	6503	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"INO80 complex subunits"	26956	protein-coding gene	gene with protein product	"INO80 complex subunit A"	610169	"INO80 complex homolog 1 (S. cerevisiae)", "INO80 homolog (S. cerevisiae)"	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1126C>T	15.37:g.41371904G>A	ENSP00000355205:p.Arg376Trp		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R376W	ENST00000361937.3	37	c.1126	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008748	0.75046	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93307	-3.2;-3.2	4.87	2.78	0.32641	DNA binding domain, INO80 (1);	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	M	0.88377	2.95	0.53688	D	0.999973	D	0.89917	1.0	D	0.79784	0.993	D	0.95677	0.8729	10	0.49607	T	0.09	.	10.4479	0.44505	0.0:0.0:0.4896:0.5104	.	376	Q9ULG1	INO80_HUMAN	W	376	ENSP00000355205:R376W;ENSP00000384686:R376W	ENSP00000355205:R376W	R	-	1	2	INO80	39159196	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.402000	0.44521	1.238000	0.43771	0.591000	0.81541	CGG	INO80	-	NULL	ENSG00000128908		0.418	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	-	0	104	0	G	NM_017553		41371904	-1	tier1	-	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	38.71	57	36	SNP	1.000	A	A	41371904	G	A	41371904	3	1	58	1	0	0	0	0	1	0	0	0	7773	1086	38	1	3656	1	INO80	15	41371904	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	666672	41371904	61159488	1624	16007											
NDUFAF1	51103	genome.wustl.edu	37	chr15	41688939	41688939	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggtggccttccggtcCtctccaatgatccacaattt	8	11	9	13	1	1	2	0	1	1	1	5	2	4	2	5	3	0	0	5	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41688939C>A	ENST00000260361.4	-	2	700	c.319G>T	c.(319-321)Gga>Tga	p.G107*		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	107					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCTTCCGGTCCTCTCCAATGA	0.448																																																	0													101	101	101					15																	41688939		2203	4300	6503	SO:0001587	stop_gained	0			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"Mitochondrial respiratory chain complex assembly factors"	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.319G>T	15.37:g.41688939C>A	ENSP00000260361:p.Gly107*		Q9BVZ5	Nonsense_Mutation	SNP	pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like	p.G107*	ENST00000260361.4	37	c.319	CCDS10075.1	15	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238867	0.39598	.	.	ENSG00000137806	ENST00000260361	.	.	.	4.77	4.77	0.60923	.	0.047576	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.732	18.2343	0.89945	0.0:1.0:0.0:0.0	.	.	.	.	X	107	.	ENSP00000260361:G107X	G	-	1	0	NDUFAF1	39476231	1.000000	0.71417	0.078000	0.20375	0.049000	0.14656	5.586000	0.67503	2.375000	0.81037	0.456000	0.33151	GGA	NDUFAF1	-	NULL	ENSG00000137806		0.448	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF1	HGNC	protein_coding	OTTHUMT00000252692.2	-	0	37	0	C	NM_016013		41688939	-1	tier1	-	no_errors	ENST00000260361	ensembl	human	known	74_37	nonsense	25.81	23	8	SNP	0.995	A	A	41688939	C	A	41688939	4	1	58	1	0	0	0	0	0	1	0	0	10313	690	24	3	680	3	NDUFAF1	15	41688939	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	317035	41688939	60842453	1625	16008											
ITPKA	3706	genome.wustl.edu	37	chr15	41794044	41794044	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcgactgcaaaatgggCgtcaggtatgcgtgccctgc	7	9	14	11	3	1	0	1	0	0	0	2	1	1	0	1	2	5	3	1	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41794044C>T	ENST00000260386.5	+	3	851	c.798C>T	c.(796-798)ggC>ggT	p.G266G		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	266					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCAAAATGGGCGTCAGGTATG	0.667																																																	0													43	41	42					15																	41794044		2203	4300	6503	SO:0001819	synonymous_variant	0			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"inositol 1,4,5-trisphosphate 3-kinase A"			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.798C>T	15.37:g.41794044C>T			Q8TAN3	Silent	SNP	pfam_IPK	p.G266	ENST00000260386.5	37	c.798	CCDS10076.1	15																																																																																			ITPKA	-	pfam_IPK	ENSG00000137825		0.667	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	-	0	54	0	C	NM_002220		41794044	1	tier1	-	no_errors	ENST00000260386	ensembl	human	known	74_37	silent	49.06	27	26	SNP	0.973	T	T	41794044	C	T	41794044	2	4	58	1	0	0	0	0	0	0	0	1	7944	755	27	1		1	ITPKA	15	41794044	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	105105	41794044	60737348	1626	16009											
TYRO3	7301	genome.wustl.edu	37	chr15	41859622	41859622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcccccctttacctGcctgctccgggacctggtgc	2	10	10	19	1	0	0	0	0	0	0	1	1	1	1	8	2	5	1	8	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41859622G>T	ENST00000263798.3	+	7	1072	c.848G>T	c.(847-849)tGc>tTc	p.C283F	TYRO3_ENST00000559066.1_Missense_Mutation_p.C238F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	283	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCTTTACCTGCCTGCTCCGG	0.602																																																	0													87	91	90					15																	41859622		2203	4300	6503	SO:0001583	missense	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.848G>T	15.37:g.41859622G>T	ENSP00000263798:p.Cys283Phe		O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C283F	ENST00000263798.3	37	c.848	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	8.905	0.957215	0.18507	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.55234	0.53	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000299	T	0.39172	0.1068	L	0.33485	1.01	0.36524	D	0.870345	P	0.41947	0.766	B	0.38842	0.283	T	0.40021	-0.9585	10	0.11485	T	0.65	-16.1495	14.5246	0.67878	0.0:0.0:1.0:0.0	.	283	Q06418	TYRO3_HUMAN	F	215;283	ENSP00000263798:C283F	ENSP00000263798:C283F	C	+	2	0	TYRO3	39646914	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.956000	0.56722	2.417000	0.82017	0.655000	0.94253	TGC	TYRO3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000092445		0.602	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	-	0	68	0	G			41859622	1	tier1	-	no_errors	ENST00000263798	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.990	T	T	41859622	G	T	41859622	3	4	58	1	0	0	0	0	1	0	0	0	16863	1319	46	3	874	3	TYRO3	15	41859622	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	65578	41859622	60671770	1627	16010											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42105843	42105843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcccactgcatctctGtgagccaagactacatcttc	9	10	8	14	0	2	2	0	1	2	1	4	2	2	2	2	1	3	1	2	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42105843G>A	ENST00000456763.2	+	10	1058	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.V170M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.V282M|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.V282M	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	288										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGCATCTCTGTGAGCCAAGA	0.592																																																	0													167	148	154					15																	42105843		2203	4300	6503	SO:0001583	missense	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.862G>A	15.37:g.42105843G>A	ENSP00000393099:p.Val288Met		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V288M	ENST00000456763.2	37	c.862	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	g	20.2	3.942810	0.73672	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.245630	0.39687	N	0.001292	T	0.77198	0.4095	M	0.75615	2.305	0.47341	D	0.999398	D;D;D;D	0.76494	0.999;0.99;0.996;0.994	D;D;D;D	0.77004	0.982;0.918;0.989;0.967	T	0.78061	-0.2351	10	0.59425	D	0.04	-15.2649	19.3199	0.94234	0.0:0.0:1.0:0.0	.	170;282;288;282	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	M	282;170;288;282	ENSP00000397570:V282M;ENSP00000260357:V170M;ENSP00000393099:V288M;ENSP00000426154:V282M	ENSP00000260357:V170M	V	+	1	0	MAPKBP1	39893135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.598000	0.67585	2.655000	0.90218	0.651000	0.88453	GTG	MAPKBP1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000137802		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	-	0	72	0	G	NM_014994		42105843	1	tier1	-	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	35.71	36	20	SNP	1.000	A	A	42105843	G	A	42105843	3	1	58	1	0	0	0	0	1	0	0	0	9330	1377	48	3	896	3	MAPKBP1	15	42105843	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	246221	42105843	60425549	1628	16011											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42115240	42115240	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggtgccaatccccctGgagcacccccggaggtggaa	9	5	13	14	1	0	0	0	0	0	0	1	3	1	3	5	5	2	2	5	5	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42115240G>T	ENST00000456763.2	+	29	3632	c.3436G>T	c.(3436-3438)Gga>Tga	p.G1146*	MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.G1023*|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.G979*|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000457542.2_Nonsense_Mutation_p.G1140*|RP11-23P13.4_ENST00000512295.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1146										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAATCCCCCTGGAGCACCCCC	0.647																																																	0													50	44	46					15																	42115240		2203	4300	6503	SO:0001587	stop_gained	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3436G>T	15.37:g.42115240G>T	ENSP00000393099:p.Gly1146*		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1146*	ENST00000456763.2	37	c.3436	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	43	10.302082	0.99379	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	.	.	.	5.22	5.22	0.72569	.	0.495928	0.22787	N	0.055656	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.4331	14.1557	0.65417	0.0:0.0:1.0:0.0	.	.	.	.	X	1140;1023;979;1146	.	ENSP00000221214:G1023X	G	+	1	0	MAPKBP1	39902532	0.996000	0.38824	0.975000	0.42487	0.660000	0.38997	3.105000	0.50314	2.714000	0.92807	0.561000	0.74099	GGA	MAPKBP1	-	NULL	ENSG00000137802		0.647	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	-	0	53	0	G	NM_014994		42115240	1	tier1	-	no_errors	ENST00000456763	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.985	T	T	42115240	G	T	42115240	4	4	58	1	0	0	0	0	0	1	0	0	9330	1349	47	3	3546	3	MAPKBP1	15	42115240	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	9397	42115240	60416152	1629	16012											
JMJD7	100137047	genome.wustl.edu	37	chr15	42127036	42127036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaggccgtgcattatcCgcaacgctctgcagcactgg	9	7	10	15	3	1	0	0	0	1	0	2	0	2	0	3	2	5	5	3	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42127036C>T	ENST00000397299.4	+	2	203	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R55C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R55C|JMJD7_ENST00000408047.1_Intron|PLA2G4B_ENST00000452633.1_5'Flank|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R55C	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	55										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						GTGCATTATCCGCAACGCTCT	0.617																																																	0													97	93	95					15																	42127036		2203	4300	6503	SO:0001583	missense	0				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.163C>T	15.37:g.42127036C>T	ENSP00000380467:p.Arg55Cys		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.R55C	ENST00000397299.4	37	c.163	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	22.8	4.336327	0.81801	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.03	4.03	0.46877	.	0.000000	0.51477	D	0.000099	D	0.88621	0.6486	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.984	D	0.91165	0.4964	10	0.59425	D	0.04	-0.018	16.3519	0.83215	0.0:1.0:0.0:0.0	.	55;55;55	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	C	55	ENSP00000380467:R55C;ENSP00000441905:R55C;ENSP00000371886:R55C;ENSP00000342785:R55C	ENSP00000380467:R55C	R	+	1	0	JMJD7-PLA2G4B;JMJD7	39914328	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.327000	0.59247	2.256000	0.74724	0.655000	0.94253	CGC	JMJD7-PLA2G4B	-	NULL	ENSG00000168970		0.617	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000326082.1	-	0	57	0	C	NM_001114632		42127036	1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T	T	42127036	C	T	42127036	3	4	58	1	0	0	0	0	1	0	0	0	7981	652	23	1	169	1	JMJD7	15	42127036	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	11796	42127036	60404356	1630	16013											
SPTBN5	51332	genome.wustl.edu	37	chr15	42171563	42171563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgagctccctggctgcAgggcctccagctggaggagc	5	7	14	15	0	1	1	0	1	1	0	3	3	3	3	4	4	4	4	4	4	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42171563A>G	ENST00000320955.6	-	16	3304	c.3077T>C	c.(3076-3078)cTg>cCg	p.L1026P		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1026					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCTGGCTGCAGGGCCTCCAG	0.632																																																	0													34	38	37					15																	42171563		2008	4160	6168	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3077T>C	15.37:g.42171563A>G	ENSP00000317790:p.Leu1026Pro			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1026P	ENST00000320955.6	37	c.3077		15	.	.	.	.	.	.	.	.	.	.	.	13.86	2.362820	0.41902	.	.	ENSG00000137877	ENST00000320955	T	0.73258	-0.73	4.29	1.91	0.25777	.	0.534869	0.16342	N	0.218626	T	0.59418	0.2192	L	0.60455	1.87	0.09310	N	1	P	0.39480	0.675	B	0.31442	0.13	T	0.44483	-0.9325	10	0.39692	T	0.17	.	8.6368	0.33953	0.7426:0.0:0.2574:0.0	.	1026	Q9NRC6	SPTN5_HUMAN	P	1026	ENSP00000317790:L1026P	ENSP00000317790:L1026P	L	-	2	0	SPTBN5	39958855	0.006000	0.16342	0.000000	0.03702	0.145000	0.21501	0.865000	0.27940	-0.183000	0.10585	-2.028000	0.00425	CTG	SPTBN5	-	smart_Spectrin/alpha-actinin	ENSG00000137877		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	62	0	A	NM_016642		42171563	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.000	G	G	42171563	A	G	42171563	3	3	58	1	0	0	0	0	1	0	0	0	15169	188	7	4	8159	4	SPTBN5	15	42171563	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	44527	42171563	60359829	1631	16014											
VPS39	23339	genome.wustl.edu	37	chr15	42479523	42479523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagaattttcacaccaCgccatggacttgggcacatc	12	9	8	12	1	1	2	1	0	0	2	2	3	1	3	2	2	0	1	2	2	2	4	rs149434119		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42479523C>T	ENST00000348544.4	-	8	512	c.513G>A	c.(511-513)gcG>gcA	p.A171A	VPS39_ENST00000318006.5_Silent_p.A160A			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	171	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTTCACACCACGCCATGGACT	0.353																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	82	81	81		480	-2.7	1	15	dbSNP_134	81	0,8598		0,0,4299	no	coding-synonymous	VPS39	NM_015289.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		160/876	42479523	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.513G>A	15.37:g.42479523C>T			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.A171	ENST00000348544.4	37	c.513	CCDS10083.1	15																																																																																			VPS39	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron	ENSG00000166887		0.353	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	-	0	35	0	C	NM_015289		42479523	-1	tier1	rs149434119	no_errors	ENST00000348544	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.399	T	T	42479523	C	T	42479523	2	4	58	1	0	0	0	0	0	0	0	1	17258	523	19	1		1	VPS39	15	42479523	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	307960	42479523	60051869	1632	16015											
B2M	567	genome.wustl.edu	37	chr15	45007798	45007801	+	Frame_Shift_Del	DEL	TCTA	TCTA	-																															tttcagcaaggactggtcttTctatctcttgtactacactg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCTA	TCTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45007798_45007801delTCTA	ENST00000558401.1	+	2	315_318	c.245_248delTCTA	c.(244-249)ttctatfs	p.FY82fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.FY82fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.FY82fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	82	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GACTGGTCTTTCTATCTCTTGTAC	0.436																																																	0																																										SO:0001589	frameshift_variant	0			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.245_248delTCTA	15.37:g.45007798_45007801delTCTA	ENSP00000452780:p.Phe82fs		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y83fs	ENST00000558401.1	37	c.245_248	CCDS10113.1	15																																																																																			B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000166710		0.436	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2		0	93	0	TCTA	NM_004048		45007801	1	tier1		no_errors	ENST00000544417	ensembl	human	known	74_37	frame_shift_del	29.35	65	27	DEL	1.000:1.000:0.992:0.989	-	-	45007801	TCTA	-	45007798	7	5	58	1	0	1	0	1	0	0	0	0	1245	1783	62	0	251	0	B2M	15	45007798	Frame_Shift_Del	DEL	TCTA	TCGA-L5-A4OI-01A-11D-A27G-09	2528275	45007798	57523594	1633	16016	66	2									
B2M	567	genome.wustl.edu	37	chr15	45007801	45007801	+	Missense_Mutation	SNP	A	A	T																															cagcaaggactggtctttctAtctcttgtactacactgaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45007801A>T	ENST00000558401.1	+	2	318	c.248A>T	c.(247-249)tAt>tTt	p.Y83F	B2M_ENST00000559916.1_Missense_Mutation_p.Y83F|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Missense_Mutation_p.Y83F	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	83	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGGTCTTTCTATCTCTTGTAC	0.428																																																	0													182	179	180					15																	45007801		2198	4298	6496	SO:0001583	missense	0			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"Immunoglobulin superfamily / C1-set domain containing"	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.248A>T	15.37:g.45007801A>T	ENSP00000452780:p.Tyr83Phe		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y83F	ENST00000558401.1	37	c.248	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589118	0.66105	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.02656	4.21	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.344654	0.33005	N	0.005395	T	0.14098	0.0341	M	0.76433	2.335	0.40570	D	0.981296	D;D	0.69078	0.997;0.994	D;D	0.73380	0.98;0.959	T	0.00134	-1.2008	10	0.72032	D	0.01	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	83;83	F5H6I0;P61769	.;B2MG_HUMAN	F	83	ENSP00000437604:Y83F	ENSP00000340858:Y83F	Y	+	2	0	B2M	42795093	1.000000	0.71417	0.954000	0.39281	0.038000	0.13279	6.818000	0.75257	2.308000	0.77769	0.533000	0.62120	TAT	B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000166710		0.428	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2		0	97	0	A	NM_004048		45007801	1			no_errors	ENST00000544417	ensembl	human	known	74_37	missense	7.35	59	5	SNP	0.989	T	T	45007801	A	T	45007801	3	4	58	1	0	0	0	0	1	0	0	0	1245	449	16	5	254	5	B2M	15	45007801	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	3	45007801	57523591	1634	16017	66	2									
DUOX2	50506	genome.wustl.edu	37	chr15	45405204	45405204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacagcaccacgctcgtgGtgcctcaggttgttaaacca	10	8	9	14	2	1	0	1	0	0	0	2	0	1	0	4	2	4	4	4	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45405204G>A	ENST00000603300.1	-	3	343	c.141C>T	c.(139-141)caC>caT	p.H47H	DUOX2_ENST00000389039.6_Silent_p.H47H|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	47	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACGCTCGTGGTGCCTCAGGT	0.672																																																	0													56	50	52					15																	45405204		2198	4298	6496	SO:0001819	synonymous_variant	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.141C>T	15.37:g.45405204G>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.H47	ENST00000603300.1	37	c.141	CCDS10117.1	15																																																																																			DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000140279		0.672	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		-	0	42	0	G	NM_014080		45405204	-1	tier1	-	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	57.14	15	20	SNP	0.950	A	A	45405204	G	A	45405204	2	1	58	1	0	0	0	0	0	0	0	1	4815	1252	44	3		3	DUOX2	15	45405204	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	397403	45405204	57126188	1635	16018											
SPATA5L1	79029	genome.wustl.edu	37	chr15	45713277	45713277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagaaaatggactagacGcaactacagtgaaacaagag	19	5	10	7	1	0	4	0	1	0	3	0	5	0	5	0	1	4	2	0	1	8	2	rs551616759		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45713277G>T	ENST00000305560.6	+	8	2230	c.2131G>T	c.(2131-2133)Gca>Tca	p.A711S	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	711						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGACTAGACGCAACTACAGT	0.348																																																	0													64	66	66					15																	45713277		2198	4298	6496	SO:0001583	missense	0			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"ATPases / AAA-type"	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2131G>T	15.37:g.45713277G>T	ENSP00000305494:p.Ala711Ser		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A711S	ENST00000305560.6	37	c.2131	CCDS10123.1	15	.	.	.	.	.	.	.	.	.	.	G	7.265	0.606031	0.14002	.	.	ENSG00000171763	ENST00000305560	D	0.94723	-3.5	5.6	2.71	0.32032	.	0.407786	0.26446	N	0.024335	D	0.87669	0.6235	N	0.17345	0.48	0.38232	D	0.941053	B	0.06786	0.001	B	0.12837	0.008	T	0.79992	-0.1569	10	0.34782	T	0.22	-24.6673	10.8184	0.46591	0.2287:0.0:0.7713:0.0	.	711	Q9BVQ7	SPA5L_HUMAN	S	711	ENSP00000305494:A711S	ENSP00000305494:A711S	A	+	1	0	SPATA5L1	43500569	0.967000	0.33354	0.159000	0.22649	0.131000	0.20780	2.425000	0.44723	0.313000	0.23062	-1.149000	0.01842	GCA	SPATA5L1	-	superfamily_P-loop_NTPase	ENSG00000171763		0.348	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	-	0	63	0	G	NM_024063		45713277	1	tier1	-	no_errors	ENST00000305560	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.438	T	T	45713277	G	T	45713277	3	4	58	1	0	0	0	0	1	0	0	0	15059	1087	38	2	2161	2	SPATA5L1	15	45713277	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	308073	45713277	56818115	1636	16019											
MYEF2	50804	genome.wustl.edu	37	chr15	48441553	48441553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtcacactgttcatgCtacccattccaccacctgga	9	10	5	17	0	2	0	2	0	0	0	4	1	4	1	5	1	2	2	5	1	1	3	rs200959924		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:48441553C>T	ENST00000324324.7	-	15	1673	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N	MYEF2_ENST00000267836.6_Missense_Mutation_p.S441N	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	465	Gly-rich.		S -> G (in dbSNP:rs36075490). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTGTTCATGCTACCCATTCC	0.463																																																	0													92	93	93					15																	48441553		2198	4296	6494	SO:0001583	missense	0			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"RNA binding motif (RRM) containing"	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1394G>A	15.37:g.48441553C>T	ENSP00000316950:p.Ser465Asn		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S465N	ENST00000324324.7	37	c.1394	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381430	0.24944	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.31247	1.5;1.5	4.9	4.9	0.64082	.	0.254934	0.39475	N	0.001360	T	0.14917	0.0360	N	0.02802	-0.49	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15896	-1.0421	10	0.38643	T	0.18	-3.6191	14.5803	0.68284	0.0:0.8536:0.1464:0.0	.	441;465	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	N	465;441;53	ENSP00000316950:S465N;ENSP00000267836:S441N	ENSP00000267836:S441N	S	-	2	0	MYEF2	46228845	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.211000	0.51137	2.657000	0.90304	0.585000	0.79938	AGC	MYEF2	-	NULL	ENSG00000104177		0.463	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	-	0	22	0	C	NM_016132		48441553	-1	tier1	rs200959924	no_errors	ENST00000324324	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T	T	48441553	C	T	48441553	3	4	58	1	0	0	0	0	1	0	0	0	10062	797	28	3	420	3	MYEF2	15	48441553	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2728276	48441553	54089839	1637	16020											
EID1	399694	genome.wustl.edu	37	chr15	49170653	49170653	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggcgggcgcagacttcGagagcgaggacgagggcgag	9	3	21	8	6	0	2	0	0	0	2	1	7	0	3	0	5	1	1	0	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:49170653G>A	ENST00000332408.4	-	4	1269				SHC4_ENST00000537958.1_5'Flank|EID1_ENST00000558295.1_Intron|EID1_ENST00000560490.1_Missense_Mutation_p.E72K|EID1_ENST00000530028.2_Missense_Mutation_p.E94K|SHC4_ENST00000396535.3_5'Flank	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGCAGACTTCGAGAGCGAGGA	0.652																																																	0													23	27	26					15																	49170653		2045	4191	6236	SO:0001627	intron_variant	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5791C>T	15.37:g.49170653G>A			Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	NULL	p.E94K	ENST00000332408.4	37	c.280	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267315	0.59540	.	.	ENSG00000255302	ENST00000530028	T	0.35973	1.28	3.81	3.81	0.43845	.	.	.	.	.	T	0.18676	0.0448	N	0.16478	0.41	0.80722	D	1	D	0.52996	0.957	B	0.35688	0.208	T	0.03025	-1.1081	9	0.33141	T	0.24	.	11.501	0.50437	0.0:0.0:1.0:0.0	.	94	Q9Y6B2	EID1_HUMAN	K	94	ENSP00000431162:E94K	ENSP00000431162:E94K	E	+	1	0	EID1	46957945	0.954000	0.32549	0.824000	0.32777	0.997000	0.91878	1.308000	0.33528	2.418000	0.82041	0.655000	0.94253	GAG	EID1	-	NULL	ENSG00000255302		0.652	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID1	HGNC	protein_coding	OTTHUMT00000254371.1	-	0	90	0	G	NM_203349		49170653	1	tier1	-	no_errors	ENST00000530028	ensembl	human	known	74_37	missense	46.48	38	33	SNP	0.846	A	A	49170653	G	A	49170653	1	1	58	0	1	0	0	0	0	0	0	0	5000	1059	37	1		1	EID1	15	49170653	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	729100	49170653	53360739	1638	16021											
SHC4	399694	genome.wustl.edu	37	chr15	49254776	49254776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaccaggtcctgctgcGgtggaggtgcagtcccggac	5	7	15	14	2	0	0	0	0	0	0	3	2	3	2	4	5	3	2	4	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:49254776G>A	ENST00000332408.4	-	1	865	c.437C>T	c.(436-438)cCg>cTg	p.P146L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	146	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GTCCTGCTGCGGTGGAGGTGC	0.647																																																	0													74	66	69					15																	49254776		2197	4295	6492	SO:0001583	missense	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.437C>T	15.37:g.49254776G>A	ENSP00000329668:p.Pro146Leu		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.P146L	ENST00000332408.4	37	c.437	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	G	6.265	0.417044	0.11870	.	.	ENSG00000185634	ENST00000332408	T	0.04706	3.57	4.67	1.7	0.24286	.	0.328452	0.25845	N	0.027932	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.08055	0.003	T	0.44314	-0.9336	10	0.35671	T	0.21	-16.8975	4.9849	0.14185	0.1559:0.0:0.5457:0.2984	.	146	Q6S5L8	SHC4_HUMAN	L	146	ENSP00000329668:P146L	ENSP00000329668:P146L	P	-	2	0	SHC4	47042068	0.008000	0.16893	0.000000	0.03702	0.027000	0.11550	0.315000	0.19451	0.188000	0.20168	-0.895000	0.02911	CCG	SHC4	-	NULL	ENSG00000185634		0.647	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	-	0	55	0	G	NM_203349		49254776	-1	tier1	-	no_errors	ENST00000332408	ensembl	human	known	74_37	missense	43.08	37	28	SNP	0.002	A	A	49254776	G	A	49254776	3	1	58	1	0	0	0	0	1	0	0	0	14318	1116	39	1	1503	1	SHC4	15	49254776	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	84123	49254776	53276616	1639	16022											
DMXL2	23312	genome.wustl.edu	37	chr15	51787281	51787281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaaggcatgtgtgtaGgcgcatagctaacaagtatc	13	10	11	7	1	1	0	1	0	0	0	2	0	1	0	0	2	2	5	0	2	7	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:51787281G>T	ENST00000251076.5	-	19	5010	c.4723C>A	c.(4723-4725)Cta>Ata	p.L1575I	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1575I|DMXL2_ENST00000449909.3_Missense_Mutation_p.L939I|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1575						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATGTGTGTAGGCGCATAGCT	0.393																																																	0													146	131	136					15																	51787281		2195	4293	6488	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4723C>A	15.37:g.51787281G>T	ENSP00000251076:p.Leu1575Ile		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1575I	ENST00000251076.5	37	c.4723	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145086	0.57044	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.51325	0.71;0.71;0.71	5.75	-0.177	0.13307	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.72353	2.195	0.42130	D	0.991461	D;D;D	0.76494	0.997;0.992;0.999	D;D;D	0.83275	0.909;0.987;0.996	T	0.58008	-0.7712	10	0.19590	T	0.45	.	10.7261	0.46068	0.6004:0.0:0.3996:0.0	.	1575;939;1575	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	I	1575;1575;939	ENSP00000251076:L1575I;ENSP00000441858:L1575I;ENSP00000400855:L939I	ENSP00000251076:L1575I	L	-	1	2	DMXL2	49574573	0.998000	0.40836	0.999000	0.59377	0.962000	0.63368	1.140000	0.31516	0.146000	0.19002	-0.229000	0.12294	CTA	DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0	26	0	G	NM_015263		51787281	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.939	T	T	51787281	G	T	51787281	3	4	58	1	0	0	0	0	1	0	0	0	4609	991	35	3	4490	3	DMXL2	15	51787281	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2532505	51787281	50744111	1640	16023											
DMXL2	23312	genome.wustl.edu	37	chr15	51860757	51860758	+	Splice_Site	INS	-	-	A																															accatatgaagctgcaatctINSaaaaaagaataaatacagca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:51860757_51860758insA	ENST00000251076.5	-	3	501		c.e3-2		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGCTGCAATCTAAAAAAGAATA	0.252																																																	0																																										SO:0001630	splice_region_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.214-2->T	15.37:g.51860763_51860763dupA			B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	INS	-	e3-2	ENST00000251076.5	37	c.214-3_214-2	CCDS10141.1	15																																																																																			DMXL2	-	-	ENSG00000104093		0.252	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0	29	0	-	NM_015263	Intron	51860758	-1	tier1		no_errors	ENST00000543779	ensembl	human	known	74_37	splice_site_ins	40.54	22	15	INS	1.000:0.998	A	A	51860758	-	A	51860757	8	5	58	1	0	1	1	0	0	0	1	0	4609	1536	53	0	9065	0	DMXL2	15	51860757	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	73476	51860757	50670635	1641	16024											
MYO5C	55930	genome.wustl.edu	37	chr15	52571792	52571792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaagatagctgagagccGtgaggtcattctcgcccacg	9	8	13	11	4	2	4	1	3	1	2	3	5	2	4	2	1	2	1	2	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:52571792G>A	ENST00000261839.7	-	3	379	c.218C>T	c.(217-219)aCg>aTg	p.T73M	MYO5C_ENST00000541028.1_5'UTR|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000443683.2_De_novo_Start_OutOfFrame	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	73	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTGAGAGCCGTGAGGTCATT	0.483																																																	0													70	70	70					15																	52571792		1910	4127	6037	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.218C>T	15.37:g.52571792G>A	ENSP00000261839:p.Thr73Met		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T73M	ENST00000261839.7	37	c.218	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.216432	0.95104	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	D	0.95518	-3.73	5.88	5.88	0.94601	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98645	1.0677	10	0.87932	D	0	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	36;73	F5H231;Q9NQX4	.;MYO5C_HUMAN	M	73;36	ENSP00000261839:T73M	ENSP00000261839:T73M	T	-	2	0	MYO5C	50359084	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.837000	0.99465	2.792000	0.96026	0.557000	0.71058	ACG	MYO5C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000128833		0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	-	0	44	0	G	NM_018728		52571792	-1	tier1	-	no_errors	ENST00000261839	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	A	A	52571792	G	A	52571792	3	1	58	1	0	0	0	0	1	0	0	0	10118	1145	40	1	5166	1	MYO5C	15	52571792	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	711035	52571792	49959600	1642	16025											
ONECUT1	3175	genome.wustl.edu	37	chr15	53081749	53081749	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtggagatgggaggcagCggctgcagaggggtcaaggt	9	6	20	6	1	1	2	1	0	0	2	1	4	1	3	0	7	2	3	0	7	1	0	rs140232143		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:53081749C>T	ENST00000305901.5	-	1	460	c.333G>A	c.(331-333)ccG>ccA	p.P111P	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	111					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGGGAGGCAGCGGCTGCAGAG	0.667																																																	0													71	61	65					15																	53081749		2194	4293	6487	SO:0001819	synonymous_variant	0			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.333G>A	15.37:g.53081749C>T			B2RTV4|Q99744|Q9UMR6	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.P111	ENST00000305901.5	37	c.333	CCDS10150.1	15																																																																																			ONECUT1	-	NULL	ENSG00000169856		0.667	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	HGNC	protein_coding	OTTHUMT00000254849.2	-	0	85	0	C			53081749	-1	tier1	-	no_errors	ENST00000305901	ensembl	human	known	74_37	silent	39.29	34	22	SNP	1.000	T	T	53081749	C	T	53081749	2	4	58	1	0	0	0	0	0	0	0	1	10907	755	27	1		1	ONECUT1	15	53081749	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	509957	53081749	49449643	1643	16026											
UNC13C	440279	genome.wustl.edu	37	chr15	54685306	54685306	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagaatttggattttTggccccaacttattacactg	11	13	6	11	0	0	1	0	0	0	1	0	2	0	2	4	2	2	0	4	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:54685306T>G	ENST00000260323.11	+	17	4774	c.4774T>G	c.(4774-4776)Tgg>Ggg	p.W1592G	UNC13C_ENST00000545554.1_Missense_Mutation_p.W1592G|UNC13C_ENST00000537900.1_Missense_Mutation_p.W1590G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1592					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGGATTTTTGGCCCCAACT	0.388																																																	0													94	92	92					15																	54685306		1827	4074	5901	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4774T>G	15.37:g.54685306T>G	ENSP00000260323:p.Trp1592Gly		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.W1592G	ENST00000260323.11	37	c.4774	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122531	0.77436	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84223	-1.8;-1.82;-1.81	5.34	5.34	0.76211	Calcium-dependent secretion activator (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.93602	0.6931	10	0.66056	D	0.02	.	14.1561	0.65419	0.0:0.0:0.0:1.0	.	1592;1592	F5H090;Q8NB66	.;UN13C_HUMAN	G	1592;1592;1590	ENSP00000260323:W1592G;ENSP00000438156:W1592G;ENSP00000442569:W1590G	ENSP00000260323:W1592G	W	+	1	0	UNC13C	52472598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.923000	0.87546	2.043000	0.60533	0.528000	0.53228	TGG	UNC13C	-	pfam_Ca-dep_secretion_activator	ENSG00000137766		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	80	0	T	NM_173166		54685306	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	37.04	51	30	SNP	1.000	G	G	54685306	T	G	54685306	3	3	58	1	0	0	0	0	1	0	0	0	17035	1812	63	4	4836	4	UNC13C	15	54685306	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1603557	54685306	47846086	1644	16027											
MNS1	55329	genome.wustl.edu	37	chr15	56735707	56735707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaatcttcacgttgcCgcagcatttcttctaatttc	8	16	5	12	2	4	0	1	0	3	0	6	0	5	0	2	0	2	4	2	0	2	7	rs529820032	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:56735707C>T	ENST00000260453.3	-	7	1096	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	311	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TTCACGTTGCCGCAGCATTTC	0.294													C|||	3	0.000599042	8e-04	0	5008	,	,		17510	0		0	False		,,,				2504	0.002																0													115	108	110					15																	56735707		2192	4291	6483	SO:0001583	missense	0			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"spermatogenesis associated 40"	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.932G>A	15.37:g.56735707C>T	ENSP00000260453:p.Arg311Gln		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.R311Q	ENST00000260453.3	37	c.932	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824765	0.16678	.	.	ENSG00000138587	ENST00000260453	T	0.09538	2.97	5.76	2.52	0.30459	.	0.110120	0.64402	N	0.000007	T	0.03739	0.0106	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.34254	-0.9836	10	0.06099	T	0.92	-4.6907	5.1867	0.15187	0.0:0.5641:0.0:0.4359	.	311	Q8NEH6	MNS1_HUMAN	Q	311	ENSP00000260453:R311Q	ENSP00000260453:R311Q	R	-	2	0	MNS1	54522999	0.909000	0.30893	0.988000	0.46212	0.998000	0.95712	1.157000	0.31724	0.771000	0.33359	0.637000	0.83480	CGG	MNS1	-	NULL	ENSG00000138587		0.294	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	-	0	39	0	C	NM_018365		56735707	-1	tier1	rs140554714	no_errors	ENST00000260453	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	T	T	56735707	C	T	56735707	3	4	58	1	0	0	0	0	1	0	0	0	9715	652	23	1	571	1	MNS1	15	56735707	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2050401	56735707	45795685	1645	16028											
ZNF280D	54816	genome.wustl.edu	37	chr15	56958728	56958728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttgtgaatgccccgaCgataccttagggagacatta	11	11	10	9	2	0	2	0	1	0	1	0	5	0	2	3	1	3	1	3	1	4	4	rs377486429		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:56958728C>T	ENST00000267807.7	-	16	2075	c.1859G>A	c.(1858-1860)cGt>cAt	p.R620H	ZNF280D_ENST00000559237.1_Missense_Mutation_p.R607H|ZNF280D_ENST00000396245.1_Missense_Mutation_p.R324H|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R607H	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AATGCCCCGACGATACCTTAG	0.313																																																	0								C	HIS/ARG,HIS/ARG	0,4384		0,0,2192	68	64	65		1820,1859	4	1	15		65	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	ZNF280D	NM_001002843.1,NM_017661.2	29,29	0,1,6483	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	607/967,620/980	56958728	1,12967	2192	4292	6484	SO:0001583	missense	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1859G>A	15.37:g.56958728C>T	ENSP00000267807:p.Arg620His		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R620H	ENST00000267807.7	37	c.1859	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	C	6.806	0.517694	0.13005	0.0	1.16E-4	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03004	4.08;4.51	4.96	3.97	0.46021	.	1.376800	0.05020	N	0.472573	T	0.04363	0.0120	L	0.41236	1.265	0.28326	N	0.922005	B;B	0.33549	0.417;0.417	B;B	0.24848	0.056;0.049	T	0.20472	-1.0274	10	0.36615	T	0.2	-11.449	8.9511	0.35790	0.1491:0.7693:0.0:0.0815	.	683;620	B4DHL1;Q6N043	.;Z280D_HUMAN	H	620;607;324	ENSP00000267807:R620H;ENSP00000379545:R324H	ENSP00000267807:R620H	R	-	2	0	ZNF280D	54746020	0.001000	0.12720	0.990000	0.47175	0.623000	0.37688	0.052000	0.14163	2.450000	0.82876	0.467000	0.42956	CGT	ZNF280D	-	NULL	ENSG00000137871		0.313	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	-	0	59	0	C	XM_370867		56958728	-1	tier1	-	no_errors	ENST00000267807	ensembl	human	known	74_37	missense	48.78	42	40	SNP	0.984	T	T	56958728	C	T	56958728	3	4	58	1	0	0	0	0	1	0	0	0	17865	536	19	1	1108	1	ZNF280D	15	56958728	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	223021	56958728	45572664	1646	16029											
GRINL1A	81488	genome.wustl.edu	37	chr15	58001499	58001499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacctcattacatggaagTgctagaaatgcgagccaaaa	17	7	9	8	1	1	1	1	0	0	1	1	4	1	2	2	1	5	1	2	1	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:58001499T>C	ENST00000299638.3	+	2	915	c.701T>C	c.(700-702)gTg>gCg	p.V234A	GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Missense_Mutation_p.V77A|POLR2M_ENST00000380563.2_Missense_Mutation_p.V234A|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Missense_Mutation_p.V631A	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	234					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TACATGGAAGTGCTAGAAATG	0.453																																																	0													59	60	60					15																	58001499		2192	4292	6484	SO:0001583	missense	0			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"RNA polymerase subunits"	14862	protein-coding gene	gene with protein product		606485	"glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.701T>C	15.37:g.58001499T>C	ENSP00000299638:p.Val234Ala		Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	NULL	p.V234A	ENST00000299638.3	37	c.701	CCDS32252.1	15	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506843	0.85282	.	.	ENSG00000255529	ENST00000380563;ENST00000299638;ENST00000380557	T;T;T	0.31769	1.48;1.48;1.48	5.21	5.21	0.72293	.	.	.	.	.	T	0.55162	0.1903	.	.	.	0.37246	D	0.906362	D;D	0.89917	0.998;1.0	D;D	0.85130	0.99;0.997	T	0.62973	-0.6740	8	0.49607	T	0.09	.	14.2022	0.65712	0.0:0.0:0.0:1.0	.	77;234	P0CAP2-2;P0CAP2	.;GRL1A_HUMAN	A	234;234;77	ENSP00000369937:V234A;ENSP00000299638:V234A;ENSP00000369930:V77A	ENSP00000299638:V234A	V	+	2	0	GRINL1A	55788791	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.834000	0.55798	2.187000	0.69744	0.383000	0.25322	GTG	POLR2M	-	NULL	ENSG00000255529		0.453	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2M	HGNC	protein_coding	OTTHUMT00000255719.2	-	0	35	0	T			58001499	1	tier1	-	no_errors	ENST00000299638	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	C	C	58001499	T	C	58001499	3	2	58	1	0	0	0	0	1	0	0	0	6813	1696	59	4	707	4	GRINL1A	15	58001499	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1042771	58001499	44529893	1647	16030											
RNF111	54778	genome.wustl.edu	37	chr15	59368393	59368393	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctctctctcatcatgtCgacattacatgccaccccct	8	11	4	18	1	3	0	2	0	2	0	6	1	3	0	4	0	3	0	4	0	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:59368393C>T	ENST00000557998.1	+	7	2214	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.R643*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.R643*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.R643*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.R643*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	643	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTCATCATGTCGACATTACAT	0.453																																					NSCLC(72;983 1365 10746 34387 47081)												0													99	106	104					15																	59368393		2192	4291	6483	SO:0001587	stop_gained	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1927C>T	15.37:g.59368393C>T	ENSP00000452732:p.Arg643*		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R643*	ENST00000557998.1	37	c.1927	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	C	42	9.630376	0.99224	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.55	4.57	0.56435	.	0.057486	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4458	11.2592	0.49071	0.1415:0.722:0.1365:0.0	.	.	.	.	X	643	.	ENSP00000288199:R643X	R	+	1	2	RNF111	57155685	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.863000	0.48396	2.767000	0.95098	0.557000	0.71058	CGA	RNF111	-	NULL	ENSG00000157450		0.453	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0	40	0	C	NM_017610		59368393	1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	nonsense	36.11	23	13	SNP	1.000	T	T	59368393	C	T	59368393	4	4	58	1	0	0	0	0	0	1	0	0	13470	876	31	1	1949	1	RNF111	15	59368393	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1366894	59368393	43162999	1648	16031											
RNF111	54778	genome.wustl.edu	37	chr15	59383348	59383348	+	Frame_Shift_Del	DEL	A	A	-																															gtacatatccacataaatacAaaaaggtaagaatttattct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:59383348delA	ENST00000557998.1	+	12	3021	c.2734delA	c.(2734-2736)aaafs	p.K913fs	RNF111_ENST00000348370.4_Frame_Shift_Del_p.K913fs|RNF111_ENST00000559209.1_Frame_Shift_Del_p.K922fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.K922fs|RNF111_ENST00000434298.1_Frame_Shift_Del_p.K922fs	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	913					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACATAAATACAAAAAGGTAAG	0.333																																					NSCLC(72;983 1365 10746 34387 47081)												0													88	93	91					15																	59383348		2192	4291	6483	SO:0001589	frameshift_variant	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2734delA	15.37:g.59383348delA	ENSP00000452732:p.Lys913fs		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K922fs	ENST00000557998.1	37	c.2761	CCDS58366.1	15																																																																																			RNF111	-	NULL	ENSG00000157450		0.333	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1		0	15	0	A	NM_017610		59383348	1	tier1		no_errors	ENST00000434298	ensembl	human	known	74_37	frame_shift_del	38.71	19	12	DEL	1.000	-	-	59383348	A	-	59383348	7	5	58	1	0	1	0	1	0	0	0	0	13470	131	5	0	2776	0	RNF111	15	59383348	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	14955	59383348	43148044	1649	16032											
SNX1	6642	genome.wustl.edu	37	chr15	64424092	64424092	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctggccatagtccgcGtaagcttctgtttccttttc	4	15	8	14	2	1	0	0	0	1	0	5	0	4	0	5	1	1	3	5	1	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:64424092G>A	ENST00000559844.1	+	11	1235		c.e11+1		SNX1_ENST00000560829.1_Splice_Site|SNX1_ENST00000261889.5_Splice_Site|SNX1_ENST00000559339.1_Splice_Site|SNX1_ENST00000561026.1_Splice_Site|SNX1_ENST00000353874.4_Splice_Site			Q13596	SNX1_HUMAN	sorting nexin 1						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CATAGTCCGCGTAAGCTTCTG	0.463																																																	0													98	89	92					15																	64424092		2203	4300	6503	SO:0001630	splice_region_variant	0			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"Sorting nexins"	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1221+1G>A	15.37:g.64424092G>A			A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Splice_Site	SNP	-	e11+1	ENST00000559844.1	37	c.1221+1	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469571	0.63625	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4583	0.87613	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX1	62211145	1.000000	0.71417	0.947000	0.38551	0.673000	0.39480	9.459000	0.97638	2.693000	0.91896	0.561000	0.74099	.	SNX1	-	-	ENSG00000028528		0.463	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	-	0	44	0	G	NM_003099	Intron	64424092	1	tier1	-	no_errors	ENST00000559844	ensembl	human	known	74_37	splice_site	40.00	15	10	SNP	1.000	A	A	64424092	G	A	64424092	5	1	58	1	0	0	0	0	0	0	1	0	14925	1159	40	1	1264	1	SNX1	15	64424092	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5040744	64424092	38107300	1650	16033											
CILP	8483	genome.wustl.edu	37	chr15	65499358	65499358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttcccgcctgggtagtcGatgttgaaccatgttgtcca	6	12	10	13	2	0	1	0	1	0	0	3	2	2	1	5	1	1	3	5	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:65499358G>A	ENST00000261883.4	-	4	352	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	62					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGTAGTCGATGTTGAACC	0.597																																																	0													53	43	46					15																	65499358		2201	4299	6500	SO:0001819	synonymous_variant	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.186C>T	15.37:g.65499358G>A			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.I62	ENST00000261883.4	37	c.186	CCDS10203.1	15																																																																																			CILP	-	NULL	ENSG00000138615		0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	-	0	81	0	G	NM_003613		65499358	-1	tier1	-	no_errors	ENST00000261883	ensembl	human	known	74_37	silent	50.00	33	33	SNP	0.065	A	A	65499358	G	A	65499358	2	1	58	1	0	0	0	0	0	0	0	1	3436	1048	37	1		1	CILP	15	65499358	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1075266	65499358	37032034	1651	16034											
DENND4A	10260	genome.wustl.edu	37	chr15	66007940	66007940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaatttttgatgtgacCggtcccggcttcttaagaaa	11	14	9	7	2	1	4	0	2	1	2	2	4	2	4	2	2	0	1	2	2	5	6	rs563702022		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:66007940C>T	ENST00000431932.2	-	14	2037	c.1829G>A	c.(1828-1830)cGg>cAg	p.R610Q	DENND4A_ENST00000443035.3_Missense_Mutation_p.R610Q	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	610	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTGATGTGACCGGTCCCGGCT	0.328													C|||	1	0.000199681	8e-04	0	5008	,	,		17540	0		0	False		,,,				2504	0																0													46	40	42					15																	66007940		1799	4072	5871	SO:0001583	missense	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1829G>A	15.37:g.66007940C>T	ENSP00000396830:p.Arg610Gln		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.R610Q	ENST00000431932.2	37	c.1829	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.598716	0.96614	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.45276	0.9;0.9	5.23	5.23	0.72850	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.941;0.999;0.999	T	0.70550	-0.4841	10	0.72032	D	0.01	.	18.7833	0.91944	0.0:1.0:0.0:0.0	.	610;610;610	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	Q	610	ENSP00000391167:R610Q;ENSP00000396830:R610Q	ENSP00000396830:R610Q	R	-	2	0	DENND4A	63794994	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	7.814000	0.86154	2.416000	0.81992	0.591000	0.81541	CGG	DENND4A	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000174485		0.328	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	-	0	42	0	C	NM_005848		66007940	-1	tier1	-	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	T	T	66007940	C	T	66007940	3	4	58	1	0	0	0	0	1	0	0	0	4447	652	23	1	3971	1	DENND4A	15	66007940	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	508582	66007940	36523452	1652	16035											
PIAS1	8554	genome.wustl.edu	37	chr15	68438931	68438931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctacaaaaaatggcGtggaaccaaagcgacccagc	15	5	8	13	2	0	0	0	0	0	0	1	2	1	1	4	2	4	0	4	2	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:68438931G>T	ENST00000249636.6	+	6	869	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	PIAS1_ENST00000545237.1_Missense_Mutation_p.V243L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	241	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V241L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAAAAATGGCGTGGAACCAAA	0.368																																																	1	Substitution - Missense(1)	endometrium(1)											95	90	91					15																	68438931		1825	4074	5899	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.721G>T	15.37:g.68438931G>T	ENSP00000249636:p.Val241Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.V241L	ENST00000249636.6	37	c.721	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.264597	0.95399	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.43294	0.95;0.95	5.55	5.55	0.83447	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.64567	1.98	0.80722	D	1	P;P	0.52316	0.952;0.893	P;P	0.58077	0.832;0.627	T	0.62077	-0.6930	10	0.72032	D	0.01	-9.8198	19.5037	0.95106	0.0:0.0:1.0:0.0	.	241;241	C5J4B4;O75925	.;PIAS1_HUMAN	L	241;243	ENSP00000249636:V241L;ENSP00000438574:V243L	ENSP00000249636:V241L	V	+	1	0	PIAS1	66225985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.596000	0.87737	0.655000	0.94253	GTG	PIAS1	-	NULL	ENSG00000033800		0.368	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2		0	51	0	G			68438931	1			no_errors	ENST00000249636	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	68438931	G	T	68438931	3	4	58	1	0	0	0	0	1	0	0	0	11914	1145	40	2	743	2	PIAS1	15	68438931	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2430991	68438931	34092461	1653	16036											
PIAS1	8554	genome.wustl.edu	37	chr15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcgtggaaccaaagcGacccagccgaccaattaata	16	5	9	11	3	0	0	0	0	0	0	0	3	0	1	4	2	3	0	4	2	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											114	108	110					15																	68438944		1832	4072	5904	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"Zinc fingers, MIZ-type"	2752	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 3"	603566	"DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	PIAS1	-	NULL	ENSG00000033800		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2	-	0	52	0	G			68438944	1	tier1	-	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T	T	68438944	G	T	68438944	3	4	58	1	0	0	0	0	1	0	0	0	11914	1058	37	2	756	2	PIAS1	15	68438944	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	13	68438944	34092448	1654	16037											
CLN6	54982	genome.wustl.edu	37	chr15	68500615	68500615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaagcaagagggtcagtgCgaaggaggagaagaggaaga	17	2	17	5	1	1	4	1	0	0	4	1	8	1	6	0	4	2	1	0	4	5	0	rs374613712		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:68500615C>T	ENST00000249806.5	-	7	956	c.799G>A	c.(799-801)Gca>Aca	p.A267T	CLN6_ENST00000538696.1_Missense_Mutation_p.A299T|CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000565471.1_Missense_Mutation_p.A114T|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000395465.3_5'Flank|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Missense_Mutation_p.A138T|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000566347.1_Missense_Mutation_p.A204T	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	267					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGGGTCAGTGCGAAGGAGGAG	0.597																																																	0								C	THR/ALA	1,4399	2.1+/-5.4	0,1,2199	122	115	118		799	-2.3	0	15		118	0,8596		0,0,4298	no	missense	CLN6	NM_017882.2	58	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	267/312	68500615	1,12995	2200	4298	6498	SO:0001583	missense	0			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.799G>A	15.37:g.68500615C>T	ENSP00000249806:p.Ala267Thr		A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	NULL	p.A267T	ENST00000249806.5	37	c.799	CCDS10227.1	15	.	.	.	.	.	.	.	.	.	.	C	6.560	0.471681	0.12461	2.27E-4	0.0	ENSG00000128973	ENST00000249806;ENST00000418702;ENST00000538696	D;D;D	0.94576	-3.46;-3.46;-3.46	5.34	-2.35	0.06684	.	1.159590	0.06127	N	0.669961	D	0.85500	0.5711	L	0.34521	1.04	0.09310	N	1	P;B;P	0.43287	0.802;0.001;0.802	B;B;B	0.31337	0.128;0.001;0.128	T	0.78112	-0.2331	10	0.26408	T	0.33	-5.824	2.2415	0.04021	0.2136:0.4136:0.1437:0.2291	.	299;138;267	B4DDH6;E7ESV1;Q9NWW5	.;.;CLN6_HUMAN	T	267;138;299	ENSP00000249806:A267T;ENSP00000393826:A138T;ENSP00000445770:A299T	ENSP00000249806:A267T	A	-	1	0	CLN6	66287669	0.000000	0.05858	0.017000	0.16124	0.281000	0.26958	-0.253000	0.08794	-0.496000	0.06650	-2.995000	0.00078	GCA	CLN6	-	NULL	ENSG00000128973		0.597	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN6	HGNC	protein_coding	OTTHUMT00000257066.1	-	0	20	0	C	NM_017882		68500615	-1	tier1	-	no_errors	ENST00000249806	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.000	T	T	68500615	C	T	68500615	3	4	58	1	0	0	0	0	1	0	0	0	3552	768	27	1	140	1	CLN6	15	68500615	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	61671	68500615	34030777	1655	16038											
UACA	55075	genome.wustl.edu	37	chr15	70991908	70991908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgcctggattgacccccTttttagcaaggattgaggtc	7	14	11	9	0	0	2	0	2	0	0	1	4	0	4	3	3	2	2	3	3	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:70991908T>C	ENST00000322954.6	-	2	355	c.170A>G	c.(169-171)aAg>aGg	p.K57R	UACA_ENST00000539319.1_Missense_Mutation_p.K57R|UACA_ENST00000379983.2_Missense_Mutation_p.K44R|UACA_ENST00000560441.1_Missense_Mutation_p.K44R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGACCCCCTTTTTAGCAAG	0.403																																																	0													198	169	179					15																	70991908		2199	4297	6496	SO:0001583	missense	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.170A>G	15.37:g.70991908T>C	ENSP00000314556:p.Lys57Arg		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.K57R	ENST00000322954.6	37	c.170	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298631	0.81025	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.70749	-0.24;-0.24;-0.51	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000026	T	0.75079	0.3801	N	0.25060	0.705	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.78468	-0.2192	10	0.62326	D	0.03	-33.4909	15.1443	0.72637	0.0:0.0:0.0:1.0	.	57;57;57;44	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	R	57;44;44;57	ENSP00000314556:K57R;ENSP00000369319:K44R;ENSP00000438667:K57R	ENSP00000314556:K57R	K	-	2	0	UACA	68778962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.533000	0.81994	2.124000	0.65301	0.397000	0.26171	AAG	UACA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137831		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2		0	105	0	T			70991908	-1			no_errors	ENST00000322954	ensembl	human	known	74_37	missense	6.59	56	6	SNP	1.000	C	C	70991908	T	C	70991908	3	2	58	1	0	0	0	0	1	0	0	0	16873	1609	56	4	4152	4	UACA	15	70991908	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2491293	70991908	31539484	1656	16039											
LARP6	55323	genome.wustl.edu	37	chr15	71125091	71125091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcctcgaactccacgatgGcgcactcctgggtccccact	6	8	8	19	3	0	0	0	0	0	0	5	2	4	0	6	2	1	1	6	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:71125091G>A	ENST00000299213.8	-	3	846	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	259	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCACGATGGCGCACTCCTG	0.557																																																	0													67	61	63					15																	71125091		2199	4297	6496	SO:0001583	missense	0			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"La ribonucleoprotein domain containing"	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.776C>T	15.37:g.71125091G>A	ENSP00000299213:p.Ala259Val		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.A259V	ENST00000299213.8	37	c.776	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772859	0.90108	.	.	ENSG00000166173	ENST00000299213	T	0.68181	-0.31	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80625	-0.1299	10	0.44086	T	0.13	-27.7599	15.2903	0.73862	0.0:0.0:1.0:0.0	.	259	Q9BRS8	LARP6_HUMAN	V	259	ENSP00000299213:A259V	ENSP00000299213:A259V	A	-	2	0	LARP6	68912145	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.315000	0.96313	2.208000	0.71279	0.555000	0.69702	GCC	LARP6	-	NULL	ENSG00000166173		0.557	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	-	0	52	0	G	NM_018357		71125091	-1	tier1	-	no_errors	ENST00000299213	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	A	A	71125091	G	A	71125091	3	1	58	1	0	0	0	0	1	0	0	0	8660	1203	42	3	703	3	LARP6	15	71125091	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	133183	71125091	31406301	1657	16040											
PARP6	56965	genome.wustl.edu	37	chr15	72552881	72552881	+	Frame_Shift_Del	DEL	G	G	-																															agggcacaggagacctgcctGggggctgggagggtagccaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:72552881delG	ENST00000569795.1	-	10	1381	c.694delC	c.(694-696)cagfs	p.Q232fs	PARP6_ENST00000287196.9_Frame_Shift_Del_p.Q232fs|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Frame_Shift_Del_p.Q232fs			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	232							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						AGACCTGCCTGGGGGCTGGGA	0.602																																																	0													195	199	198					15																	72552881		1897	4113	6010	SO:0001589	frameshift_variant	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.694delC	15.37:g.72552881delG	ENSP00000456348:p.Gln232fs		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q232fs	ENST00000569795.1	37	c.694	CCDS10241.2	15																																																																																			PARP6	-	NULL	ENSG00000137817		0.602	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2		0	72	0	G	NM_020214		72552881	-1	tier1		no_errors	ENST00000287196	ensembl	human	known	74_37	frame_shift_del	10.53	51	6	DEL	1.000	-	-	72552881	G	-	72552881	7	5	58	1	0	1	0	1	0	0	0	0	11503	1357	47	0	1258	0	PARP6	15	72552881	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	1427790	72552881	29978511	1658	16041											
GOLGA6A	342096	genome.wustl.edu	37	chr15	74363576	74363576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatgcccctcatggttgcCcacaaggggcaacaccaact	10	6	9	16	0	1	0	1	0	0	0	1	0	1	0	5	3	4	2	5	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:74363576C>A	ENST00000290438.3	-	17	1883	c.1843G>T	c.(1843-1845)Ggc>Tgc	p.G615C	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	615						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCATGGTTGCCCACAAGGGGC	0.657																																																	0													1	1	1					15																	74363576		52	103	155	SO:0001583	missense	0			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"golgi autoantigen, golgin subfamily a, member 6", "golgi autoantigen, golgin subfamily a, 6", "golgi autoantigen, golgin subfamily a, 6A"	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1843G>T	15.37:g.74363576C>A	ENSP00000290438:p.Gly615Cys		A8K959|Q9NYA7	Missense_Mutation	SNP	NULL	p.G615C	ENST00000290438.3	37	c.1843	CCDS32290.1	15	.	.	.	.	.	.	.	.	.	.	c	11.10	1.539022	0.27475	.	.	ENSG00000159289	ENST00000290438	T	0.24538	1.85	1.52	-3.04	0.05412	.	.	.	.	.	T	0.43634	0.1256	M	0.84082	2.675	0.33417	D	0.579361	D	0.89917	1.0	D	0.81914	0.995	T	0.50988	-0.8762	9	0.87932	D	0	.	2.8143	0.05451	0.3276:0.3567:0.0:0.3157	.	615	Q9NYA3	GOG6A_HUMAN	C	615	ENSP00000290438:G615C	ENSP00000290438:G615C	G	-	1	0	GOLGA6A	72150629	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.690000	0.05138	-1.498000	0.01824	-1.906000	0.00525	GGC	GOLGA6A	-	NULL	ENSG00000159289		0.657	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6A	HGNC	protein_coding	OTTHUMT00000421835.1	-	0	29	0	C	XM_292357		74363576	-1	tier1	-	no_errors	ENST00000290438	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.563	A	A	74363576	C	A	74363576	3	1	58	1	0	0	0	0	1	0	0	0	6583	623	22	3	246	3	GOLGA6A	15	74363576	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1810695	74363576	28167816	1659	16042											
CCDC33	80125	genome.wustl.edu	37	chr15	74573101	74573101	+	Frame_Shift_Del	DEL	A	A	-																															accagaagatgctgacagggAaaggcttggacgggcttcac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:74573101delA	ENST00000398814.3	+	9	1413	c.982delA	c.(982-984)aaafs	p.K328fs	CCDC33_ENST00000321288.5_Frame_Shift_Del_p.K531fs	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	531	C2.							p.K328E(1)|p.K531E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGACAGGGAAAGGCTTGGA	0.642																																																	2	Substitution - Missense(2)	lung(2)											74	83	80					15																	74573101		1956	4150	6106	SO:0001589	frameshift_variant	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.982delA	15.37:g.74573101delA	ENSP00000381795:p.Lys328fs		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Frame_Shift_Del	DEL	pfam_C2_dom,superfamily_C2_dom	p.G532fs	ENST00000398814.3	37	c.1591	CCDS42058.1	15																																																																																			CCDC33	-	NULL	ENSG00000140481		0.642	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2		0	61	0	A	NM_182791		74573101	1	tier1		no_errors	ENST00000321288	ensembl	human	known	74_37	frame_shift_del	26.98	46	17	DEL	0.120	-	-	74573101	A	-	74573101	7	5	58	1	0	1	0	1	0	0	0	0	2813	247	9	0	1016	0	CCDC33	15	74573101	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	209525	74573101	27958291	1660	16043											
CCDC33	1583	genome.wustl.edu	37	chr15	74627334	74627334	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttagaggactcagctcgaCgctggggacgagagaagcag	12	5	16	8	3	1	2	1	0	0	2	2	7	1	4	0	3	2	4	0	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:74627334C>T	ENST00000268053.6	-	0	1934				CCDC33_ENST00000321288.5_Missense_Mutation_p.R919C|CCDC33_ENST00000268082.4_Missense_Mutation_p.R309C|CCDC33_ENST00000398814.3_Missense_Mutation_p.R682C|CCDC33_ENST00000558821.1_Missense_Mutation_p.R275C	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTCAGCTCGACGCTGGGGACG	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													87	93	91					15																	74627334		2038	4183	6221	SO:0001628	intergenic_variant	0			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"Cytochrome P450s"	2590	protein-coding gene	gene with protein product	"cholesterol monooxygenase (side-chain-cleaving)"	118485	"cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627334C>T			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.R919C	ENST00000268053.6	37	c.2755	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934499	0.73442	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.38722	1.12;2.11;1.79;1.77	4.92	4.92	0.64577	.	0.242758	0.35525	N	0.003141	T	0.60495	0.2273	M	0.69823	2.125	0.43145	D	0.994903	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;P;P	0.65773	0.938;0.938;0.869;0.862	T	0.64841	-0.6312	10	0.66056	D	0.02	.	12.6464	0.56738	0.1662:0.8338:0.0:0.0	.	275;309;919;682	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	C	919;682;275;309	ENSP00000325012:R919C;ENSP00000381795:R682C;ENSP00000325661:R275C;ENSP00000268082:R309C	ENSP00000268082:R309C	R	+	1	0	CCDC33	72414387	0.005000	0.15991	0.997000	0.53966	0.980000	0.70556	1.495000	0.35627	2.274000	0.75844	0.478000	0.44815	CGC	CCDC33	-	NULL	ENSG00000140481		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000319737.1	-	0	76	0	C			74627334	1	tier1	-	no_errors	ENST00000321288	ensembl	human	known	74_37	missense	32.76	39	19	SNP	0.993	T	T	74627334	C	T	74627334	1	4	58	0	1	0	0	0	0	0	0	0	2813	536	19	1		1	CCDC33	15	74627334	IGR	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	54233	74627334	27904058	1661	16044											
GOLGA6C	653641	genome.wustl.edu	37	chr15	75558448	75558448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgcttcatttctcagctGagcccccatccctggcaccc	5	11	7	18	0	3	1	2	1	2	0	5	1	4	1	4	1	3	3	4	1	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:75558448G>A	ENST00000300576.5	+	11	850	c.850G>A	c.(850-852)Gag>Aag	p.E284K	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	284						Golgi apparatus (GO:0005794)				ovary(1)	1						TTTCTCAGCTGAGCCCCCATC	0.537																																																	0													1	1	1					15																	75558448		223	598	821	SO:0001583	missense	0				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.850G>A	15.37:g.75558448G>A	ENSP00000300576:p.Glu284Lys			Missense_Mutation	SNP	NULL	p.E284K	ENST00000300576.5	37	c.850	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	G	8.149	0.786973	0.16189	.	.	ENSG00000167195	ENST00000300576	T	0.22743	1.94	0.167	0.167	0.15006	.	.	.	.	.	T	0.17365	0.0417	L	0.49256	1.55	0.25099	N	0.990795	B	0.02656	0.0	B	0.04013	0.001	T	0.24154	-1.0168	9	0.42905	T	0.14	.	6.1731	0.20429	3.0E-4:0.0:0.9997:0.0	.	284	A6NDK9	GOG6C_HUMAN	K	284	ENSP00000300576:E284K	ENSP00000300576:E284K	E	+	1	0	GOLGA6C	73345501	0.001000	0.12720	0.050000	0.19076	0.051000	0.14879	0.398000	0.20899	0.276000	0.22118	0.281000	0.19383	GAG	GOLGA6C	-	NULL	ENSG00000167195		0.537	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	-	0	41	0	G	NM_001164404		75558448	1	tier1	-	no_errors	ENST00000300576	ensembl	human	known	74_37	missense	17.35	81	17	SNP	0.999	A	A	75558448	G	A	75558448	3	1	58	1	0	0	0	0	1	0	0	0	6585	1291	45	3	892	3	GOLGA6C	15	75558448	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	931114	75558448	26972944	1662	16045											
GOLGA6C	653641	genome.wustl.edu	37	chr15	75562260	75562260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcatcgctgcccagaacCctgctgatgagcccactcca	8	8	7	18	1	1	3	1	2	0	1	4	3	3	3	5	0	4	2	5	0	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:75562260C>T	ENST00000300576.5	+	17	1888	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	630						Golgi apparatus (GO:0005794)				ovary(1)	1						TGCCCAGAACCCTGCTGATGA	0.642																																																	0													1	1	1					15																	75562260		169	537	706	SO:0001583	missense	0				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6C"				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.1888C>T	15.37:g.75562260C>T	ENSP00000300576:p.Pro630Ser			Missense_Mutation	SNP	NULL	p.P630S	ENST00000300576.5	37	c.1888	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	-	0.190	-1.054031	0.01965	.	.	ENSG00000167195	ENST00000300576	T	0.23950	1.88	.	.	.	.	.	.	.	.	T	0.20780	0.0500	L	0.58354	1.805	0.19775	N	0.99996	B	0.30634	0.288	B	0.28709	0.093	T	0.21930	-1.0231	8	0.23891	T	0.37	.	6.1333	0.20217	0.0:0.9996:0.0:4.0E-4	.	630	A6NDK9	GOG6C_HUMAN	S	630	ENSP00000300576:P630S	ENSP00000300576:P630S	P	+	1	0	GOLGA6C	73349313	0.795000	0.28851	0.172000	0.22920	0.176000	0.22953	0.512000	0.22755	0.259000	0.21709	0.264000	0.19307	CCT	GOLGA6C	-	NULL	ENSG00000167195		0.642	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	-	0	27	0	C	NM_001164404		75562260	1	tier1	-	no_errors	ENST00000300576	ensembl	human	known	74_37	missense	33.33	11	6	SNP	0.994	T	T	75562260	C	T	75562260	3	4	58	1	0	0	0	0	1	0	0	0	6585	623	22	3	1954	3	GOLGA6C	15	75562260	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3812	75562260	26969132	1663	16046											
ISL2	64843	genome.wustl.edu	37	chr15	76633630	76633630	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacctggaccaacccgcCttccaacagctggtgaggcc	9	5	11	16	2	0	1	0	1	0	0	1	3	1	2	6	3	4	1	6	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:76633630C>A	ENST00000290759.4	+	5	1111	c.951C>A	c.(949-951)gcC>gcA	p.A317A	RP11-685G9.4_ENST00000602530.1_lincRNA|RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	317					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACCAACCCGCCTTCCAACAGC	0.677																																					GBM(97;953 1391 16164 31496 36951)												0													22	22	22					15																	76633630		2197	4293	6490	SO:0001819	synonymous_variant	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.951C>A	15.37:g.76633630C>A			B3KM37	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A317	ENST00000290759.4	37	c.951	CCDS10290.1	15																																																																																			ISL2	-	NULL	ENSG00000159556		0.677	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1	-	0	32	0	C			76633630	1	tier1	-	no_errors	ENST00000290759	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.999	A	A	76633630	C	A	76633630	2	1	58	1	0	0	0	0	0	0	0	1	7884	668	24	3		3	ISL2	15	76633630	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1071370	76633630	25897762	1664	16047											
SCAPER	49855	genome.wustl.edu	37	chr15	76958034	76958034	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctttttggcttttttttTatttttttgccgctcttctc	2	27	4	8	1	3	0	0	0	3	0	4	0	3	0	1	1	1	2	1	1	2	12			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:76958034T>A	ENST00000563290.1	-	21	2700	c.2605A>T	c.(2605-2607)Aaa>Taa	p.K869*	SCAPER_ENST00000538941.2_Nonsense_Mutation_p.K623*|SCAPER_ENST00000324767.7_Nonsense_Mutation_p.K869*			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	869						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTTTTTTTTATTTTTTTGC	0.348																																																	0													57	51	53					15																	76958034		1777	4048	5825	SO:0001587	stop_gained	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2605A>T	15.37:g.76958034T>A	ENSP00000454973:p.Lys869*		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Nonsense_Mutation	SNP	smart_Znf_U1	p.K869*	ENST00000563290.1	37	c.2605	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	T	42	9.472615	0.99181	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	.	.	.	5.93	4.78	0.61160	.	0.107147	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2329	0.59953	0.0:0.0:0.1327:0.8673	.	.	.	.	X	869;623;891	.	ENSP00000303560:K891X	K	-	1	0	SCAPER	74745089	0.999000	0.42202	0.984000	0.44739	0.969000	0.65631	2.872000	0.48467	1.035000	0.39972	0.482000	0.46254	AAA	SCAPER	-	NULL	ENSG00000140386		0.348	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1		0	51	0	T	NM_020843		76958034	-1			no_errors	ENST00000324767	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.865	A	A	76958034	T	A	76958034	4	1	58	1	0	0	0	0	0	1	0	0	13923	1763	61	5	1645	5	SCAPER	15	76958034	Nonsense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	324404	76958034	25573358	1665	16048											
SCAPER	49855	genome.wustl.edu	37	chr15	77067201	77067201	+	Frame_Shift_Del	DEL	T	T	-																															ttcagaatgtactacctgggTtttttcggcaagaggatggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:77067201delT	ENST00000563290.1	-	9	1125	c.1030delA	c.(1030-1032)accfs	p.T344fs	SCAPER_ENST00000562890.1_5'Flank|SCAPER_ENST00000538941.2_Frame_Shift_Del_p.T98fs|SCAPER_ENST00000324767.7_Frame_Shift_Del_p.T344fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	344						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTACCTGGGTTTTTTCGGCA	0.353																																																	0													66	64	64					15																	77067201		1835	4085	5920	SO:0001589	frameshift_variant	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1030delA	15.37:g.77067201delT	ENSP00000454973:p.Thr344fs		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Del	DEL	smart_Znf_U1	p.T344fs	ENST00000563290.1	37	c.1030	CCDS53962.1	15																																																																																			SCAPER	-	NULL	ENSG00000140386		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1		0	46	0	T	NM_020843		77067201	-1	tier1		no_errors	ENST00000324767	ensembl	human	known	74_37	frame_shift_del	41.86	25	18	DEL	1.000	-	-	77067201	T	-	77067201	7	5	58	1	0	1	0	1	0	0	0	0	13923	1725	60	0	3268	0	SCAPER	15	77067201	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	109167	77067201	25464191	1666	16049											
PSTPIP1	9051	genome.wustl.edu	37	chr15	77310871	77310874	+	Splice_Site	DEL	AAGT	AAGT	-																															caggtggccagacggagatcAagtaagatctcccgggccct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:77310871_77310874delAAGT	ENST00000558012.1	+	3	700_701	c.211_212delAAGT	c.(211-213)aag>g	p.K71fs	PSTPIP1_ENST00000267939.5_Splice_Site_p.K70fs|PSTPIP1_ENST00000559295.1_Splice_Site_p.K71fs|PSTPIP1_ENST00000379595.3_Splice_Site_p.K71fs	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	71	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACGGAGATCAAGTAAGATCTCCC	0.593																																																	0																																										SO:0001630	splice_region_variant	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.212+1AAGT>-	15.37:g.77310871_77310874delAAGT			B5BU74|B5BUK4|O43585|O95657	Frame_Shift_Del	DEL	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.N136fs	ENST00000558012.1	37	c.406_407	CCDS45312.1	15																																																																																			PSTPIP1	-	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	ENSG00000140368		0.593	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2		0	42	0	AAGT	NM_003978	Frame_Shift_Del	77310874	1	tier1		no_errors	ENST00000559785	ensembl	human	known	74_37	frame_shift_del	25.71	26	9	DEL	1.000:1.000	-	-	77310874	AAGT	-	77310871	8	5	58	1	0	1	0	1	0	0	1	0	12763	144	5	0	221	0	PSTPIP1	15	77310871	Splice_Site	DEL	AAGT	TCGA-L5-A4OI-01A-11D-A27G-09	243670	77310871	25220521	1667	16050											
ADAMTS7	11173	genome.wustl.edu	37	chr15	79058838	79058838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtgggggtggggagcGgccggcctggctaggccaag	5	5	23	8	2	0	1	0	1	0	0	0	2	0	2	3	9	1	1	3	9	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:79058838G>T	ENST00000388820.4	-	19	3625	c.3415C>A	c.(3415-3417)Cgc>Agc	p.R1139S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1139					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTGGGGAGCGGCCGGCCTGG	0.672																																																	0													4	6	5					15																	79058838		1858	3845	5703	SO:0001583	missense	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3415C>A	15.37:g.79058838G>T	ENSP00000373472:p.Arg1139Ser		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1139S	ENST00000388820.4	37	c.3415	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	g	5.289	0.238731	0.10023	.	.	ENSG00000136378	ENST00000388820	T	0.58940	0.3	4.21	-1.79	0.07932	.	2.056800	0.01816	N	0.033737	T	0.34774	0.0909	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.12811	-1.0533	10	0.08837	T	0.75	.	4.2452	0.10669	0.3626:0.0:0.4888:0.1486	.	1139	Q9UKP4	ATS7_HUMAN	S	1139	ENSP00000373472:R1139S	ENSP00000373472:R1139S	R	-	1	0	ADAMTS7	76845893	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.833000	0.04396	-0.649000	0.05430	0.574000	0.79327	CGC	ADAMTS7	-	NULL	ENSG00000136378		0.672	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	-	0	50	0	G	NM_014272		79058838	-1	tier1	-	no_errors	ENST00000388820	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.000	T	T	79058838	G	T	79058838	3	4	58	1	0	0	0	0	1	0	0	0	271	1116	39	2	1669	2	ADAMTS7	15	79058838	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1747967	79058838	23472554	1668	16051											
RASGRF1	5923	genome.wustl.edu	37	chr15	79292168	79292168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgctatggcaaaggcaGaggcggccgacaaggcactg	10	5	16	10	3	0	1	0	0	0	1	0	2	0	1	1	6	1	5	1	6	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:79292168G>T	ENST00000419573.3	-	18	2985	c.2711C>A	c.(2710-2712)tCt>tAt	p.S904Y	RASGRF1_ENST00000394745.3_Missense_Mutation_p.S120Y|RASGRF1_ENST00000558480.2_Missense_Mutation_p.S888Y|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	904					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCAAAGGCAGAGGCGGCCGA	0.562																																																	0													142	115	124					15																	79292168		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2711C>A	15.37:g.79292168G>T	ENSP00000405963:p.Ser904Tyr		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S904Y	ENST00000419573.3	37	c.2711	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253712	0.80135	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.64803	-0.12;0.27	4.34	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.371203	0.26341	N	0.024940	T	0.74374	0.3708	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	P;D;D;D	0.91635	0.866;0.999;0.959;0.999	T	0.73228	-0.4049	10	0.02654	T	1	.	14.3634	0.66789	0.0:0.0:1.0:0.0	.	300;888;906;888	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Y	904;888;120	ENSP00000405963:S904Y;ENSP00000378228:S120Y	ENSP00000378224:S888Y	S	-	2	0	RASGRF1	77079223	1.000000	0.71417	0.734000	0.30879	0.893000	0.52053	8.927000	0.92846	2.236000	0.73375	0.591000	0.81541	TCT	RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	85	0	G	NM_002891		79292168	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.998	T	T	79292168	G	T	79292168	3	4	58	1	0	0	0	0	1	0	0	0	13117	942	33	3	1154	3	RASGRF1	15	79292168	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	233330	79292168	23239224	1669	16052											
KIAA1199	57214	genome.wustl.edu	37	chr15	81217986	81217986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccctcaccaggacgcCgacccgctgaagccccggga	9	3	11	18	4	1	1	1	1	0	0	1	4	1	3	6	2	3	1	6	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:81217986C>T	ENST00000394685.3	+	19	2729	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.A770A|KIAA1199_ENST00000220244.3_Silent_p.A770A			Q8WUJ3	CEMIP_HUMAN		770					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCAGGACGCCGACCCGCTGA	0.662																																																	0													28	29	28					15																	81217986		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000394685.3:c.2310C>T	15.37:g.81217986C>T			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.A770	ENST00000394685.3	37	c.2310	CCDS10315.1	15																																																																																			KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.662	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	-	0	92	0	C			81217986	1	tier1	-	no_errors	ENST00000220244	ensembl	human	known	74_37	silent	39.06	39	25	SNP	0.142	T	T	81217986	C	T	81217986	2	4	58	1	0	0	0	0	0	0	0	1	8240	639	23	1		1	KIAA1199	15	81217986	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1925818	81217986	21313406	1670	16053											
IL16	3603	genome.wustl.edu	37	chr15	81598438	81598438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgactccagaggccatgCccgacctcaactcctccact	9	7	7	18	1	1	2	1	1	0	1	4	3	4	2	6	1	3	1	6	1	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:81598438C>T	ENST00000302987.4	+	16	3610	c.3610C>T	c.(3610-3612)Ccc>Tcc	p.P1204S	IL16_ENST00000394660.2_Missense_Mutation_p.P1204S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.P503S			Q14005	IL16_HUMAN	interleukin 16	1204					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGAGGCCATGCCCGACCTCAA	0.562																																																	0													95	97	96					15																	81598438		2203	4300	6503	SO:0001583	missense	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3610C>T	15.37:g.81598438C>T	ENSP00000302935:p.Pro1204Ser		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	p.P1204S	ENST00000302987.4	37	c.3610	CCDS42069.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.884|2.884	-0.231115|-0.231115	0.05983|0.05983	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000329842|ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656	.|T;T;T	.|0.38560	.|2.69;1.13;1.13	5.17|5.17	1.76|1.76	0.24704|0.24704	.|PDZ/DHR/GLGF (2);	.|0.665589	.|0.13213	.|N	.|0.405050	T|T	0.30448|0.30448	0.0765|0.0765	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.28178	.|0.064;0.024;0.202;0.001;0.0	.|B;B;B;B;B	.|0.25987	.|0.065;0.027;0.03;0.002;0.006	T|T	0.31668|0.31668	-0.9935|-0.9935	6|10	0.87932|0.02654	D|T	0|1	.|.	8.3204|8.3204	0.32126|0.32126	0.3161:0.5451:0.1388:0.0|0.3161:0.5451:0.1388:0.0	.|.	.|1036;697;594;1204;1204	.|F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2	.|.;.;.;IL16_HUMAN;.	V|S	714|1204;1036;1204;594;503;503	.|ENSP00000378155:P1204S;ENSP00000302935:P1204S;ENSP00000378147:P503S	ENSP00000329317:A714V|ENSP00000302935:P1204S	A|P	+|+	2|1	0|0	IL16|IL16	79385493|79385493	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.801000|0.801000	0.27055|0.27055	0.528000|0.528000	0.28580|0.28580	0.655000|0.655000	0.94253|0.94253	GCC|CCC	IL16	-	superfamily_PDZ	ENSG00000172349		0.562	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	-	0	33	0	C	NM_172217		81598438	1	tier1	-	no_errors	ENST00000302987	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.000	T	T	81598438	C	T	81598438	3	4	58	1	0	0	0	0	1	0	0	0	7660	739	26	3	3672	3	IL16	15	81598438	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	380452	81598438	20932954	1671	16054											
TMC3	342125	genome.wustl.edu	37	chr15	81636316	81636316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaccgcacgaaaagtcctCggaagaagtctatgagcaga	15	6	11	9	3	1	3	0	1	1	2	3	5	2	4	2	1	2	3	2	1	6	2	rs371581223		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:81636316C>T	ENST00000359440.5	-	14	1724	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R531Q|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.R530Q(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAAAAGTCCTCGGAAGAAGTC	0.488																																																	1	Substitution - Missense(1)	endometrium(1)						C	GLN/ARG	1,4021		0,1,2010	78	76	76		1589	5.5	1	15		76	0,8378		0,0,4189	no	missense	TMC3	NM_001080532.1	43	0,1,6199	TT,TC,CC		0.0,0.0249,0.0081	probably-damaging	530/1101	81636316	1,12399	2011	4189	6200	SO:0001583	missense	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1589G>A	15.37:g.81636316C>T	ENSP00000352413:p.Arg530Gln			Missense_Mutation	SNP	pfam_TMC	p.R530Q	ENST00000359440.5	37	c.1589	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.784677	0.96937	2.49E-4	0.0	ENSG00000188869	ENST00000359440	T	0.69685	-0.42	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.64676	1.99	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82263	-0.0544	10	0.72032	D	0.01	-13.5956	19.3572	0.94420	0.0:1.0:0.0:0.0	.	530;530	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	Q	530	ENSP00000352413:R530Q	ENSP00000352413:R530Q	R	-	2	0	TMC3	79423371	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.456000	0.80751	2.552000	0.86080	0.585000	0.79938	CGA	TMC3	-	pfam_TMC	ENSG00000188869		0.488	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	-	0	25	0	C	NM_181841		81636316	-1	tier1	-	no_errors	ENST00000359440	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	T	T	81636316	C	T	81636316	3	4	58	1	0	0	0	0	1	0	0	0	16033	884	31	1	1749	1	TMC3	15	81636316	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	37878	81636316	20895076	1672	16055											
WHAMM	123720	genome.wustl.edu	37	chr15	83499658	83499658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaccaccaccaccgcCgccaccgccgcccccacccc	6	2	4	29	4	0	0	0	0	0	0	2	0	2	0	14	0	0	0	14	0	0	0	rs375991281	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:83499658C>T	ENST00000286760.4	+	9	2048	c.1949C>T	c.(1948-1950)cCg>cTg	p.P650L		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	650	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.|Pro-rich.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ccaccaccgccgccaccgccg	0.572													C|||	3	0.000599042	0.0023	0	5008	,	,		9374	0		0	False		,,,				2504	0																0								C	LEU/PRO	3,3785		0,3,1891	12	14	13		1949	0.2	0	15		13	0,8160		0,0,4080	no	missense	WHAMM	NM_001080435.1	98	0,3,5971	TT,TC,CC		0.0,0.0792,0.0251	benign	650/810	83499658	3,11945	1894	4080	5974	SO:0001583	missense	0			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"WAS protein homology region 2 domain containing 1"	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1949C>T	15.37:g.83499658C>T	ENSP00000286760:p.Pro650Leu		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.P650L	ENST00000286760.4	37	c.1949	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230171	0.39399	7.92E-4	0.0	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.39406	1.08	4.65	0.214	0.15249	.	0.346611	0.29932	N	0.010829	T	0.29882	0.0747	L	0.39898	1.24	0.19775	N	0.99995	D	0.61697	0.99	P	0.47162	0.54	T	0.17806	-1.0357	10	0.23302	T	0.38	.	3.5416	0.07814	0.2355:0.4829:0.0:0.2817	.	650	Q8TF30	WHAMM_HUMAN	L	650	ENSP00000286760:P650L	ENSP00000234505:P650L	P	+	2	0	WHAMM	81296712	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.755000	0.26405	0.077000	0.16863	-1.368000	0.01194	CCG	WHAMM	-	NULL	ENSG00000156232		0.572	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	-	0	224	0	C			83499658	1	tier1	-	no_errors	ENST00000286760	ensembl	human	known	74_37	missense	7.02	212	16	SNP	0.000	T	T	83499658	C	T	83499658	3	4	58	1	0	0	0	0	1	0	0	0	17410	652	23	1	1983	1	WHAMM	15	83499658	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1863342	83499658	19031734	1673	16056											
TM6SF1	53346	genome.wustl.edu	37	chr15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-																															ccctgaagaagcaaaaatccTttttttagcattaaacatag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368																																																	0													115	114	114					15																	83805312		2203	4300	6503	SO:0001589	frameshift_variant	0			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1001delT	15.37:g.83805312delT	ENSP00000317000:p.Leu334fs		A8K7T5|H3BU56|Q4U0U5	Frame_Shift_Del	DEL	pfam_Transmembrane_6/97	p.L339fs	ENST00000322019.9	37	c.1010	CCDS10323.1	15																																																																																			TM6SF1	-	pfam_Transmembrane_6/97	ENSG00000136404		0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	HGNC	protein_coding	OTTHUMT00000304009.1		0	33	0	T	NM_023003		83805312	1	tier1		no_errors	ENST00000379386	ensembl	human	known	74_37	frame_shift_del	37.50	20	12	DEL	0.172	-	-	83805312	T	-	83805312	7	5	58	1	0	1	0	1	0	0	0	0	16019	1609	56	0	1039	0	TM6SF1	15	83805312	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	305654	83805312	18726080	1674	16057											
BNC1	646	genome.wustl.edu	37	chr15	83932172	83932172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcaattactgattcacGatggcagggcctctcccctt	8	11	9	13	1	3	1	2	1	1	0	4	3	3	2	3	3	1	1	3	3	2	3	rs368320013		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:83932172G>T	ENST00000345382.2	-	4	1916	c.1831C>A	c.(1831-1833)Cgt>Agt	p.R611S	BNC1_ENST00000569704.1_Missense_Mutation_p.R604S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	611					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R611C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGATTCACGATGGCAGGGC	0.547																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						G	SER/ARG	0,4406		0,0,2203	127	120	122		1831	1.9	0.1	15		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	BNC1	NM_001717.3	110	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	611/995	83932172	1,13005	2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1831C>A	15.37:g.83932172G>T	ENSP00000307041:p.Arg611Ser		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R611S	ENST00000345382.2	37	c.1831	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868136	0.02590	0.0	1.16E-4	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.40476	1.03	4.93	1.86	0.25419	.	0.963263	0.08612	N	0.919909	T	0.18130	0.0435	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.30031	-0.9992	10	0.07175	T	0.84	-2.3272	4.506	0.11889	0.2206:0.3535:0.426:0.0	.	604;611	F5GY04;Q01954	.;BNC1_HUMAN	S	611;604	ENSP00000307041:R611S	ENSP00000307041:R611S	R	-	1	0	BNC1	81723176	0.000000	0.05858	0.062000	0.19696	0.717000	0.41224	0.050000	0.14120	0.664000	0.31047	0.655000	0.94253	CGT	BNC1	-	NULL	ENSG00000169594		0.547	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1		0	71	0	G	NM_001717		83932172	-1			no_errors	ENST00000345382	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.001	T	T	83932172	G	T	83932172	3	4	58	1	0	0	0	0	1	0	0	0	1476	1058	37	2	1161	2	BNC1	15	83932172	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	126860	83932172	18599220	1675	16058											
SH3GL3	6457	genome.wustl.edu	37	chr15	84237360	84237360	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacaggatacccgcagacGgaaggcttgctgggggactg	10	5	15	11	2	0	1	0	0	0	1	0	4	0	4	2	5	2	3	2	5	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84237360G>A	ENST00000427482.2	+	4	573	c.267G>A	c.(265-267)acG>acA	p.T89T	SH3GL3_ENST00000434347.1_Silent_p.T97T|SH3GL3_ENST00000324537.5_Silent_p.T97T|SH3GL3_ENST00000535412.1_Silent_p.T89T	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	89	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACCCGCAGACGGAAGGCTTGC	0.507																																																	0													83	84	84					15																	84237360		2203	4300	6503	SO:0001819	synonymous_variant	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.267G>A	15.37:g.84237360G>A			O43553|O43554	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain	p.T97	ENST00000427482.2	37	c.291	CCDS10325.2	15																																																																																			SH3GL3	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000140600		0.507	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	HGNC	protein_coding	OTTHUMT00000347797.1	-	0	32	0	G	NM_003027		84237360	1	tier1	-	no_errors	ENST00000324537	ensembl	human	known	74_37	silent	42.86	20	15	SNP	0.006	A	A	84237360	G	A	84237360	2	1	58	1	0	0	0	0	0	0	0	1	14297	1103	39	1		1	SH3GL3	15	84237360	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	305188	84237360	18294032	1676	16059											
ALPK3	57538	genome.wustl.edu	37	chr15	85382275	85382275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccgctactgtggcttGccaaaatatgagatcactca	11	10	9	11	1	2	1	2	1	0	1	2	3	2	2	2	2	2	2	2	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:85382275G>T	ENST00000258888.5	+	4	1142	c.975G>T	c.(973-975)ttG>ttT	p.L325F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	325	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGTGGCTTGCCAAAATATG	0.567																																																	0													55	45	48					15																	85382275		2203	4299	6502	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.975G>T	15.37:g.85382275G>T	ENSP00000258888:p.Leu325Phe		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.L325F	ENST00000258888.5	37	c.975	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486122	0.63962	.	.	ENSG00000136383	ENST00000258888	T	0.67171	-0.25	4.89	3.97	0.46021	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.75391	0.3843	L	0.52573	1.65	0.38380	D	0.945107	D	0.89917	1.0	D	0.91635	0.999	T	0.77887	-0.2420	10	0.62326	D	0.03	-7.6395	11.1119	0.48237	0.0915:0.0:0.9085:0.0	.	325	Q96L96	ALPK3_HUMAN	F	325	ENSP00000258888:L325F	ENSP00000258888:L325F	L	+	3	2	ALPK3	83183279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.670000	0.37502	1.057000	0.40506	0.491000	0.48974	TTG	ALPK3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000136383		0.567	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	88	0	G	NM_020778		85382275	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	T	T	85382275	G	T	85382275	3	4	58	1	0	0	0	0	1	0	0	0	546	1310	46	3	989	3	ALPK3	15	85382275	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1144915	85382275	17149117	1677	16060											
AGBL1	123624	genome.wustl.edu	37	chr15	86810253	86810253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgcttccaattgtttacGgttcttctccaaatttgagt	9	17	6	9	1	2	1	0	1	2	0	4	1	3	1	2	1	2	3	2	1	4	7	rs373676885		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:86810253G>A	ENST00000441037.2	+	12	1741	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	AGBL1_ENST00000389298.3_Missense_Mutation_p.R280Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.R549Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	549					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATTGTTTACGGTTCTTCTCC	0.403													G|||	1	0.000199681	0	0	5008	,	,		20987	0		0	False		,,,				2504	0.001																0								G	GLN/ARG	1,3805		0,1,1902	92	83	86		1646	-3	0	15		86	1,8229		0,1,4114	no	missense	AGBL1	NM_152336.2	43	0,2,6016	AA,AG,GG		0.0122,0.0263,0.0166	benign	549/1067	86810253	2,12034	1903	4115	6018	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1646G>A	15.37:g.86810253G>A	ENSP00000413001:p.Arg549Gln		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R549Q	ENST00000441037.2	37	c.1646	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	G	9.878	1.200834	0.22121	2.63E-4	1.22E-4	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.30182	1.54;1.54	5.32	-3.0	0.05480	Armadillo-type fold (1);	0.492618	0.20773	N	0.085947	T	0.12305	0.0299	N	0.17474	0.49	0.09310	N	1	B;B;B	0.20052	0.041;0.041;0.016	B;B;B	0.15484	0.013;0.006;0.002	T	0.12319	-1.0552	10	0.26408	T	0.33	-4.9418	3.5665	0.07901	0.3945:0.1081:0.3973:0.1001	.	248;280;549	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	Q	578;549;280	ENSP00000397173:R549Q;ENSP00000373949:R280Q	ENSP00000373949:R280Q	R	+	2	0	AGBL1	84611257	0.092000	0.21681	0.019000	0.16419	0.035000	0.12851	0.082000	0.14847	-0.349000	0.08274	-1.170000	0.01741	CGG	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.403	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	41	0	G	NM_152336		86810253	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.253	A	A	86810253	G	A	86810253	3	1	58	1	0	0	0	0	1	0	0	0	375	1116	39	1	1688	1	AGBL1	15	86810253	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1427978	86810253	15721139	1678	16061											
NTRK3	4916	genome.wustl.edu	37	chr15	88576214	88576214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgagggcgtggtgatgcCgtggttgatgtggtgcagtg	5	11	20	5	3	0	3	0	3	0	0	0	4	0	3	1	4	2	2	1	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:88576214C>T	ENST00000360948.2	-	13	1620	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	NTRK3_ENST00000542733.2_Missense_Mutation_p.G389S|NTRK3_ENST00000557856.1_Missense_Mutation_p.G479S|NTRK3_ENST00000355254.2_Missense_Mutation_p.G487S|NTRK3_ENST00000317501.3_Missense_Mutation_p.G487S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.G487S|NTRK3_ENST00000394480.2_Missense_Mutation_p.G487S|NTRK3_ENST00000357724.2_Missense_Mutation_p.G479S|NTRK3_ENST00000558676.1_Missense_Mutation_p.G479S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	487					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGGTGATGCCGTGGTTGATG	0.612			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													99	62	74					15																	88576214		2201	4299	6500	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1459G>A	15.37:g.88576214C>T	ENSP00000354207:p.Gly487Ser		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G487S	ENST00000360948.2	37	c.1459	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782021	0.70222	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74106	-0.81;-0.76;-0.73;-0.81;-0.68;-0.38;-0.38	4.71	3.8	0.43715	.	0.056902	0.85682	D	0.000000	T	0.77532	0.4144	M	0.71036	2.16	0.58432	D	0.999996	P;P;D;P;P;D	0.65815	0.858;0.952;0.991;0.952;0.949;0.995	B;B;P;B;B;P	0.49829	0.137;0.207;0.623;0.349;0.374;0.623	T	0.80405	-0.1396	10	0.87932	D	0	.	11.8436	0.52368	0.0:0.9164:0.0:0.0836	.	389;479;479;487;487;487	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	487;487;479;487;389;487;487	ENSP00000377990:G487S;ENSP00000354207:G487S;ENSP00000350356:G479S;ENSP00000347397:G487S;ENSP00000437773:G389S;ENSP00000444673:G487S;ENSP00000318328:G487S	ENSP00000318328:G487S	G	-	1	0	NTRK3	86377218	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	4.376000	0.59556	1.207000	0.43291	0.650000	0.86243	GGC	NTRK3	-	NULL	ENSG00000140538		0.612	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0	65	0	C			88576214	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	T	T	88576214	C	T	88576214	3	4	58	1	0	0	0	0	1	0	0	0	10747	652	23	1	1350	1	NTRK3	15	88576214	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1765961	88576214	13955178	1679	16062											
TTLL13	440307	genome.wustl.edu	37	chr15	90802159	90802159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagccacgagaatctaGgtgtgctaggtgtctggcat	9	9	13	10	2	2	1	0	0	2	1	2	3	2	1	2	3	2	2	2	3	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:90802159G>T	ENST00000339615.5	+	10	1642	c.1352G>T	c.(1351-1353)aGg>aTg	p.R451M	RP11-697E2.6_ENST00000561573.1_3'UTR|TTLL13_ENST00000438251.1_Splice_Site_p.R451M	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CGAGAATCTAGGTGTGCTAGG	0.493																																																	0													129	114	119					15																	90802159		2199	4298	6497	SO:0001583	missense	0			BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1352G>T	15.37:g.90802159G>T	ENSP00000345294:p.Arg451Met			Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.R451M	ENST00000339615.5	37	c.1352	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061098	0.55432	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.04234	3.67;3.76	5.7	5.7	0.88788	.	0.237918	0.35772	N	0.002984	T	0.26122	0.0637	M	0.82823	2.61	0.49915	D	0.999837	D	0.89917	1.0	D	0.78314	0.991	T	0.00527	-1.1688	10	0.87932	D	0	.	18.8339	0.92153	0.0:0.0:1.0:0.0	.	451	A6NNM8-2	.	M	451	ENSP00000413362:R451M;ENSP00000345294:R451M	ENSP00000345294:R451M	R	+	2	0	TTLL13	88603163	1.000000	0.71417	0.979000	0.43373	0.082000	0.17680	6.138000	0.71717	2.707000	0.92482	0.655000	0.94253	AGG	TTLL13	-	NULL	ENSG00000213471		0.493	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	-	0	94	0	G	NM_001029964		90802159	1	tier1	-	no_errors	ENST00000438251	ensembl	human	known	74_37	missense	49.15	30	29	SNP	1.000	T	T	90802159	G	T	90802159	3	4	58	1	0	0	0	0	1	0	0	0	16775	1000	35	3	1386	3	TTLL13	15	90802159	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2225945	90802159	11729233	1680	16063											
UNC45A	55898	genome.wustl.edu	37	chr15	91485759	91485759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggctgcctgccacctGctgcaggttatgtttgatgc	4	13	11	13	0	0	1	0	1	0	0	1	1	1	1	4	2	5	5	4	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:91485759G>A	ENST00000418476.2	+	7	820	c.780G>A	c.(778-780)ctG>ctA	p.L260L	UNC45A_ENST00000394275.2_Silent_p.L245L|UNC45A_ENST00000553671.2_Intron	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	260					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCTGCCACCTGCTGCAGGTTA	0.577																																																	0													111	98	102					15																	91485759		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"smooth muscle cell associated protein-1"	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.780G>A	15.37:g.91485759G>A			A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L260	ENST00000418476.2	37	c.780	CCDS10367.1	15																																																																																			UNC45A	-	superfamily_ARM-type_fold	ENSG00000140553		0.577	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	-	0	63	0	G	NM_018671		91485759	1	tier1	-	no_errors	ENST00000418476	ensembl	human	known	74_37	silent	30.77	36	16	SNP	1.000	A	A	91485759	G	A	91485759	2	1	58	1	0	0	0	0	0	0	0	1	17037	1306	46	3		3	UNC45A	15	91485759	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	683600	91485759	11045633	1681	16064											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92690355	92690355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagcctgatcggtgccAtggcacagacaccctcagtc	8	8	10	15	1	2	2	1	1	1	1	4	2	2	2	3	2	3	2	3	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:92690355A>G	ENST00000318445.6	+	8	1868	c.1654A>G	c.(1654-1656)Atg>Gtg	p.M552V	SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.M552V	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	552					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GATCGGTGCCATGGCACAGAC	0.582																																																	0													133	108	116					15																	92690355		2198	4298	6496	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1654A>G	15.37:g.92690355A>G	ENSP00000320634:p.Met552Val		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.M552V	ENST00000318445.6	37	c.1654	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611990	0.28712	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.80653	-1.4;-1.4	6.03	6.03	0.97812	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84165	0.5412	L	0.38733	1.17	0.80722	D	1	P;D;B	0.58268	0.94;0.982;0.083	P;D;B	0.68943	0.465;0.961;0.089	T	0.81046	-0.1110	10	0.21540	T	0.41	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	494;552;552	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	V	552;552;271	ENSP00000320634:M552V;ENSP00000387846:M552V	ENSP00000320634:M552V	M	+	1	0	SLCO3A1	90491359	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	8.740000	0.91579	2.308000	0.77769	0.533000	0.62120	ATG	SLCO3A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0	51	0	A	NM_013272		92690355	1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	missense	40.00	39	26	SNP	1.000	G	G	92690355	A	G	92690355	3	3	58	1	0	0	0	0	1	0	0	0	14773	217	8	4	1684	4	SLCO3A1	15	92690355	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1204596	92690355	9841037	1682	16065											
CHD2	1106	genome.wustl.edu	37	chr15	93528733	93528733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatctttctcaggctcaGacaaatgacagtgactctga	11	11	8	11	1	4	4	2	3	3	1	6	5	4	4	0	1	0	1	0	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:93528733G>T	ENST00000394196.4	+	26	4311	c.3243G>T	c.(3241-3243)caG>caT	p.Q1081H	CHD2_ENST00000557381.1_Missense_Mutation_p.Q1081H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1081					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTCAGGCTCAGACAAATGACA	0.453																																																	0													74	70	71					15																	93528733		2197	4298	6495	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3243G>T	15.37:g.93528733G>T	ENSP00000377747:p.Gln1081His		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1081H	ENST00000394196.4	37	c.3243	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402844	0.62288	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.79247	-1.25;-1.25	5.42	4.5	0.54988	.	0.000000	0.32533	U	0.005969	T	0.78534	0.4298	L	0.50333	1.59	0.80722	D	1	B;P	0.49696	0.028;0.927	B;P	0.53401	0.01;0.725	T	0.78989	-0.1986	10	0.66056	D	0.02	-24.2486	8.5027	0.33168	0.2848:0.0:0.7152:0.0	.	1081;1081	O14647;O14647-2	CHD2_HUMAN;.	H	1081	ENSP00000377747:Q1081H;ENSP00000451366:Q1081H	ENSP00000377747:Q1081H	Q	+	3	2	CHD2	91329737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.589000	0.36644	1.283000	0.44513	0.650000	0.86243	CAG	CHD2	-	NULL	ENSG00000173575		0.453	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0	56	0	G	NM_001271		93528733	1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	5.88	64	4	SNP	1.000	T	T	93528733	G	T	93528733	3	4	58	1	0	0	0	0	1	0	0	0	3332	933	33	3	3345	3	CHD2	15	93528733	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	838378	93528733	9002659	1683	16066											
IGF1R	3480	genome.wustl.edu	37	chr15	99442809	99442809	+	Frame_Shift_Del	DEL	A	A	-																															ttggtctccttgtccttcctAaaaaaccttcgcctcatcct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99442809delA	ENST00000268035.6	+	5	1817	c.1206delA	c.(1204-1206)ctafs	p.L402fs	IGF1R_ENST00000558762.1_Frame_Shift_Del_p.L402fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	402					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TGTCCTTCCTAAAAAACCTTC	0.493																																																	0													159	158	158					15																	99442809		2197	4297	6494	SO:0001589	frameshift_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1206delA	15.37:g.99442809delA	ENSP00000268035:p.Leu402fs		B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.N404fs	ENST00000268035.6	37	c.1206	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000140443		0.493	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0	77	0	A	NM_000875		99442809	1	tier1		no_errors	ENST00000268035	ensembl	human	known	74_37	frame_shift_del	32.53	56	27	DEL	0.966	-	-	99442809	A	-	99442809	7	5	58	1	0	1	0	1	0	0	0	0	7598	349	13	0	1224	0	IGF1R	15	99442809	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	5914076	99442809	3088583	1684	16067											
PGPEP1L	145814	genome.wustl.edu	37	chr15	99512698	99512698	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtcgacaccctccacagcTacgcgcttgcagactgcctt	8	8	8	17	4	0	1	0	0	0	1	2	2	1	1	3	0	4	3	3	0	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99512698T>C	ENST00000378919.6	-	4	532	c.327A>G	c.(325-327)gtA>gtG	p.V109V	PGPEP1L_ENST00000535714.1_Silent_p.V55V|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	109							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCTCCACAGCTACGCGCTTGC	0.617																																																	0													131	135	134					15																	99512698		2194	4296	6490	SO:0001819	synonymous_variant	0				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.327A>G	15.37:g.99512698T>C			H0YF86	Silent	SNP	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	p.V109	ENST00000378919.6	37	c.327	CCDS53977.1	15																																																																																			PGPEP1L	-	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	ENSG00000183571		0.617	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGPEP1L	HGNC	protein_coding	OTTHUMT00000415703.1	-	0	53	0	T	NM_001102612.2		99512698	-1	tier1	-	no_errors	ENST00000378919	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.000	C	C	99512698	T	C	99512698	2	2	58	1	0	0	0	0	0	0	0	1	11843	1509	53	4		4	PGPEP1L	15	99512698	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	69889	99512698	3018694	1685	16068											
PGPEP1L	145814	genome.wustl.edu	37	chr15	99512874	99512874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccatgcccacatgcaCgacgagctgtgtgaacgggt	8	8	14	11	3	0	1	0	1	0	0	1	3	1	1	2	2	4	2	2	2	1	0	rs201422918		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99512874C>T	ENST00000378919.6	-	4	356	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	PGPEP1L_ENST00000535714.1_De_novo_Start_InFrame|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	51							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCCACATGCACGACGAGCTGT	0.602																																																	0								C	MET/VAL,	1,4277		0,1,2138	81	86	84		151,	4.4	0.9	15		84	4,8502		0,4,4249	yes	missense,utr-5	PGPEP1L	NM_001102612.2,NM_001167902.1	21,	0,5,6387	TT,TC,CC		0.047,0.0234,0.0391	probably-damaging,	51/197,	99512874	5,12779	2139	4253	6392	SO:0001583	missense	0				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.151G>A	15.37:g.99512874C>T	ENSP00000368199:p.Val51Met		H0YF86	Missense_Mutation	SNP	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	p.V51M	ENST00000378919.6	37	c.151	CCDS53977.1	15	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472555	0.43942	2.34E-4	4.7E-4	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.34472	1.36	4.36	4.36	0.52297	.	.	.	.	.	T	0.62612	0.2442	M	0.81942	2.565	0.33856	D	0.633235	D	0.89917	1.0	D	0.81914	0.995	T	0.76099	-0.3083	9	0.87932	D	0	-14.176	16.0719	0.80941	0.0:1.0:0.0:0.0	.	51	A6NFU8	PGPIL_HUMAN	M	51;44	ENSP00000368199:V51M	ENSP00000368199:V51M	V	-	1	0	PGPEP1L	97330397	0.988000	0.35896	0.897000	0.35233	0.012000	0.07955	3.509000	0.53386	2.252000	0.74401	0.650000	0.86243	GTG	PGPEP1L	-	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	ENSG00000183571		0.602	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGPEP1L	HGNC	protein_coding	OTTHUMT00000415703.1	-	0	67	0	C	NM_001102612.2		99512874	-1	tier1	rs201422918	no_errors	ENST00000378919	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.989	T	T	99512874	C	T	99512874	3	4	58	1	0	0	0	0	1	0	0	0	11843	536	19	1	447	1	PGPEP1L	15	99512874	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	176	99512874	3018518	1686	16069											
SYNM	23336	genome.wustl.edu	37	chr15	99670066	99670066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattctgggaaagaaaacaGaagtgaaagccacgagggag	17	5	13	6	1	2	3	1	1	1	2	2	6	2	5	1	2	2	0	1	2	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99670066G>A	ENST00000560674.1	+	4	1112	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	SYNM_ENST00000328642.7_Missense_Mutation_p.E500K|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.E500K			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	501	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAAGAAAACAGAAGTGAAAGC	0.512																																					Pancreas(125;1071 1762 21750 40003 40381)												0													38	39	39					15																	99670066		1929	4131	6060	SO:0001583	missense	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.643G>A	15.37:g.99670066G>A	ENSP00000453040:p.Glu215Lys		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_IF	p.E500K	ENST00000560674.1	37	c.1498		15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178306	0.78564	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.28255	1.62;1.62	5.64	5.64	0.86602	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.22330	N	0.99919	D;D	0.60575	0.959;0.988	P;P	0.54759	0.556;0.76	T	0.40059	-0.9583	8	0.87932	D	0	.	12.0622	0.53568	0.0783:0.0:0.9217:0.0	.	501;500	O15061;C9JIE4	SYNEM_HUMAN;.	K	500	ENSP00000336775:E500K;ENSP00000330469:E500K	ENSP00000330469:E500K	E	+	1	0	SYNM	97487589	0.015000	0.18098	0.216000	0.23742	0.674000	0.39518	1.237000	0.32695	2.659000	0.90383	0.563000	0.77884	GAA	SYNM	-	NULL	ENSG00000182253		0.512	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	-	0	30	0	G	NM_145728		99670066	1	tier1	-	no_errors	ENST00000336292	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.339	A	A	99670066	G	A	99670066	3	1	58	1	0	0	0	0	1	0	0	0	15502	943	33	3	1514	3	SYNM	15	99670066	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	157192	99670066	2861326	1687	16070											
SYNM	23336	genome.wustl.edu	37	chr15	99672504	99672504	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaggcacatcagcatTgggcctcagaggcatcagac	11	7	10	13	0	4	2	4	0	0	2	5	2	5	2	2	3	1	3	2	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99672504T>C	ENST00000336292.6	+	5	4056	c.3936T>C	c.(3934-3936)atT>atC	p.I1312I	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1313	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACATCAGCATTGGGCCTCAGA	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)												0													138	144	142					15																	99672504		2120	4227	6347	SO:0001819	synonymous_variant	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3936T>C	15.37:g.99672504T>C			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	pfam_IF	p.I1312	ENST00000336292.6	37	c.3936		15																																																																																			SYNM	-	NULL	ENSG00000182253		0.552	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	SYNM	HGNC	protein_coding		-	0	26	0	T	NM_145728		99672504	1	tier1	-	no_errors	ENST00000336292	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.000	C	C	99672504	T	C	99672504	2	2	58	1	0	0	0	0	0	0	0	1	15502	1800	63	4		4	SYNM	15	99672504	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2438	99672504	2858888	1688	16071											
ALDH1A3	220	genome.wustl.edu	37	chr15	101438350	101438350	+	Frame_Shift_Del	DEL	G	G	-																															aagcgggtgacgctggagctGggggggaagaacccctgcat																								rs142377552	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:101438350delG	ENST00000329841.5	+	8	1375	c.843delG	c.(841-843)ctgfs	p.L281fs	ALDH1A3_ENST00000346623.6_Frame_Shift_Del_p.L174fs|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CGCTGGAGCTGGGGGGGAAGA	0.572																																																	0													71	69	69					15																	101438350		2203	4300	6503	SO:0001589	frameshift_variant	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.843delG	15.37:g.101438350delG	ENSP00000332256:p.Leu281fs		Q6NT64	Frame_Shift_Del	DEL	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K284fs	ENST00000329841.5	37	c.843	CCDS10389.1	15																																																																																			ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000184254		0.572	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2		0	56	0	G			101438350	1	tier1		no_errors	ENST00000329841	ensembl	human	known	74_37	frame_shift_del	31.34	46	21	DEL	0.008	-	-	101438350	G	-	101438350	7	5	58	1	0	1	0	1	0	0	0	0	492	1335	47	0	873	0	ALDH1A3	15	101438350	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	1765846	101438350	1093042	1689	16072											
LRRK1	79705	genome.wustl.edu	37	chr15	101566237	101566237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaattgaagccaagttccGtgtggaaaggattgcaacgc	12	11	11	7	2	0	1	0	1	0	0	1	3	1	3	2	2	3	2	2	2	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:101566237G>A	ENST00000388948.3	+	17	2659	c.2300G>A	c.(2299-2301)cGt>cAt	p.R767H	LRRK1_ENST00000284395.5_Missense_Mutation_p.R764H	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAAGTTCCGTGTGGAAAGG	0.602																																																	0													105	118	114					15																	101566237		2121	4230	6351	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2300G>A	15.37:g.101566237G>A	ENSP00000373600:p.Arg767His			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.R767H	ENST00000388948.3	37	c.2300	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619540	0.87460	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.80653	-1.4;-1.4	4.71	4.71	0.59529	ROC GTPase (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	D	0.86683	0.1918	10	0.46703	T	0.11	.	17.6842	0.88252	0.0:0.0:1.0:0.0	.	767	Q38SD2	LRRK1_HUMAN	H	767;764	ENSP00000373600:R767H;ENSP00000284395:R764H	ENSP00000284395:R764H	R	+	2	0	LRRK1	99383760	1.000000	0.71417	0.965000	0.40720	0.614000	0.37383	7.306000	0.78905	2.158000	0.67659	0.462000	0.41574	CGT	LRRK1	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	ENSG00000154237		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	111	0	G	NM_024652		101566237	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	29.17	68	28	SNP	1.000	A	A	101566237	G	A	101566237	3	1	58	1	0	0	0	0	1	0	0	0	9067	1145	40	1	2362	1	LRRK1	15	101566237	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	127887	101566237	965155	1690	16073											
LRRK1	79705	genome.wustl.edu	37	chr15	101593468	101593468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaccgatgccatgaaGaacttctccgagttccggca	9	7	11	14	4	1	2	0	1	1	1	3	4	2	2	5	2	2	2	5	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:101593468G>T	ENST00000388948.3	+	26	4256	c.3897G>T	c.(3895-3897)aaG>aaT	p.K1299N	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.K1296N	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCATGAAGAACTTCTCCG	0.652																																																	0													41	48	46					15																	101593468		2180	4272	6452	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3897G>T	15.37:g.101593468G>T	ENSP00000373600:p.Lys1299Asn			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.K1299N	ENST00000388948.3	37	c.3897	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438488	0.43326	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	D;D	0.93604	-3.25;-3.25	4.83	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120747	0.53938	D	0.000050	D	0.88392	0.6424	L	0.34521	1.04	0.39653	D	0.970493	B	0.31459	0.324	B	0.34038	0.174	D	0.86616	0.1876	10	0.72032	D	0.01	.	8.3105	0.32068	0.0781:0.0:0.7654:0.1565	.	1299	Q38SD2	LRRK1_HUMAN	N	1299;1296	ENSP00000373600:K1299N;ENSP00000284395:K1296N	ENSP00000284395:K1296N	K	+	3	2	LRRK1	99410991	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	1.860000	0.39428	1.134000	0.42165	-0.188000	0.12872	AAG	LRRK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154237		0.652	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	70	0	G	NM_024652		101593468	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	101593468	G	T	101593468	3	4	58	1	0	0	0	0	1	0	0	0	9067	933	33	3	3995	3	LRRK1	15	101593468	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	27231	101593468	937924	1691	16074											
TARSL2	123283	genome.wustl.edu	37	chr15	102226169	102226169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaaggtaaacatgttctCgctgtaatgctgccagtggc	10	11	10	10	1	2	0	1	0	1	0	3	0	2	0	1	2	3	5	1	2	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:102226169C>T	ENST00000335968.3	-	11	1633	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	473					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACATGTTCTCGCTGTAATGC	0.468																																																	0													155	143	147					15																	102226169		2203	4300	6503	SO:0001583	missense	0			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1417G>A	15.37:g.102226169C>T	ENSP00000338093:p.Glu473Lys		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.E473K	ENST00000335968.3	37	c.1417	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473118	0.63737	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.68624	-0.34;-0.34	5.82	3.91	0.45181	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.256146	0.43919	D	0.000518	T	0.64023	0.2561	M	0.85777	2.775	0.46167	D	0.998909	B;P	0.41910	0.14;0.764	B;B	0.32762	0.152;0.095	T	0.67063	-0.5765	10	0.72032	D	0.01	-12.6706	9.0268	0.36234	0.0:0.7678:0.1496:0.0825	.	473;378	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	K	473;378;473	ENSP00000338093:E473K;ENSP00000439899:E473K	ENSP00000329291:E378K	E	-	1	0	TARSL2	100043692	1.000000	0.71417	0.796000	0.32109	0.948000	0.59901	3.888000	0.56204	0.772000	0.33382	0.655000	0.94253	GAG	TARSL2	-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000185418		0.468	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	-	0	50	0	C	NM_152334		102226169	-1	tier1	-	no_errors	ENST00000335968	ensembl	human	known	74_37	missense	37.29	37	22	SNP	1.000	T	T	102226169	C	T	102226169	3	4	58	1	0	0	0	0	1	0	0	0	15608	893	31	1	1027	1	TARSL2	15	102226169	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	632701	102226169	305223	1692	16075											
NPRL3	8131	genome.wustl.edu	37	chr16	162652	162652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggacacctcatcctggagCgccaggatcagcttggcctc	7	7	12	15	2	2	0	2	0	0	0	4	3	3	3	4	4	2	1	4	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:162652C>T	ENST00000399953.3	-	5	918	c.516G>A	c.(514-516)gcG>gcA	p.A172A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	172					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CATCCTGGAGCGCCAGGATCA	0.642																																																	0													28	34	32					16																	162652		2179	4268	6447	SO:0001819	synonymous_variant	0				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"conserved gene telomeric to alpha globin cluster"	600928	"chromosome 16 open reading frame 35"	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.516G>A	16.37:g.162652C>T			D3DU40|Q1W6H0|Q4TT56|Q92469	Silent	SNP	pfam_NPR3,superfamily_Galactose-bd-like	p.A172	ENST00000399953.3	37	c.516		16																																																																																			NPRL3	-	pfam_NPR3	ENSG00000103148		0.642	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	NPRL3	HGNC	protein_coding		-	0	32	0	C	NM_001039476		162652	-1	tier1	-	no_errors	ENST00000399953	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.194	T	T	162652	C	T	162652	2	4	58	1	0	0	0	0	0	0	0	1	10637	755	27	1		1	NPRL3	16	162652	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09		162652	90192101	1693	16076											
TMEM8A	58986	genome.wustl.edu	37	chr16	427458	427458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggtgggaaacgttgaCggaggcattgcttctcggtg	6	9	18	8	4	1	1	0	1	1	0	2	3	1	3	1	6	2	3	1	6	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:427458C>T	ENST00000431232.2	-	3	587	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	143					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GAAACGTTGACGGAGGCATTG	0.682											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													21	22	21					16																	427458		2190	4297	6487	SO:0001583	missense	0			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.427G>A	16.37:g.427458C>T	ENSP00000401338:p.Val143Ile	588	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.V143I	ENST00000431232.2	37	c.427	CCDS10407.1	16	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.441963	0.04604	.	.	ENSG00000129925	ENST00000431232	T	0.26067	1.76	4.59	-4.28	0.03732	.	0.829267	0.10476	N	0.670175	T	0.16085	0.0387	L	0.47716	1.5	0.80722	D	1	B	0.15473	0.013	B	0.06405	0.002	T	0.30707	-0.9969	10	0.12766	T	0.61	-6.0E-4	6.6366	0.22887	0.0:0.3109:0.221:0.4681	.	143	Q9HCN3	TMM8A_HUMAN	I	143	ENSP00000401338:V143I	ENSP00000401338:V143I	V	-	1	0	TMEM8A	367459	0.000000	0.05858	0.007000	0.13788	0.043000	0.13939	-0.472000	0.06623	-0.656000	0.05380	-0.253000	0.11424	GTC	TMEM8A	-	NULL	ENSG00000129925		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	-	0	51	0	C	NM_021259		427458	-1	tier1	-	no_errors	ENST00000431232	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.001	T	T	427458	C	T	427458	3	4	58	1	0	0	0	0	1	0	0	0	16261	536	19	1	1932	1	TMEM8A	16	427458	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	264806	427458	89927295	1694	16077											
PIGQ	9091	genome.wustl.edu	37	chr16	624168	624168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagcagagcagcgccgtgGtcctggcggtcctgcacttt	5	8	15	13	4	0	1	0	0	0	1	2	2	2	2	3	4	4	3	3	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:624168G>T	ENST00000026218.5	+	2	182	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	PIGQ_ENST00000470411.2_Missense_Mutation_p.V32F|PIGQ_ENST00000409527.2_Missense_Mutation_p.V32F|PIGQ_ENST00000321878.5_Missense_Mutation_p.V32F	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	32					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CAGCGCCGTGGTCCTGGCGGT	0.697																																																	0													76	60	66					16																	624168		2199	4298	6497	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.94G>T	16.37:g.624168G>T	ENSP00000026218:p.Val32Phe		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.V32F	ENST00000026218.5	37	c.94	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622323	0.66787	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.57107	0.46;0.44;0.45;0.45;0.44;0.5;1.67;0.42	5.17	2.81	0.32909	.	0.182612	0.47093	D	0.000251	T	0.58836	0.2150	L	0.46157	1.445	0.44316	D	0.997198	D;D;P;D	0.63880	0.961;0.993;0.928;0.992	P;P;P;P	0.62298	0.64;0.809;0.66;0.9	T	0.60627	-0.7226	10	0.87932	D	0	-40.9761	8.7422	0.34564	0.2763:0.0:0.7237:0.0	.	46;32;32;32	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	F	32	ENSP00000293874:V32F;ENSP00000386760:V32F;ENSP00000386554:V32F;ENSP00000413753:V32F;ENSP00000326674:V32F;ENSP00000387820:V32F;ENSP00000026218:V32F;ENSP00000439650:V32F	ENSP00000026218:V32F	V	+	1	0	PIGQ	564169	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	3.556000	0.53734	1.146000	0.42352	0.511000	0.50034	GTC	PIGQ	-	NULL	ENSG00000007541		0.697	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	-	0	42	0	G	NM_004204		624168	1	tier1	-	no_errors	ENST00000026218	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	624168	G	T	624168	3	4	58	1	0	0	0	0	1	0	0	0	11935	1261	44	3	96	3	PIGQ	16	624168	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	196710	624168	89730585	1695	16078											
RAB40C	57799	genome.wustl.edu	37	chr16	677355	677355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtgttcagcctgcaGgacctctgctgccgggccat	6	8	11	16	1	2	0	1	0	1	0	2	1	2	1	5	2	4	3	5	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:677355G>T	ENST00000248139.3	+	6	782	c.579G>T	c.(577-579)caG>caT	p.Q193H	RAB40C_ENST00000539661.1_Missense_Mutation_p.Q193H|RAB40C_ENST00000535977.1_Missense_Mutation_p.Q193H|RAB40C_ENST00000538492.1_Missense_Mutation_p.Q193H	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	193	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAGCCTGCAGGACCTCTGCT	0.642																																					Melanoma(123;1631 1690 28262 44104 44957)												0													93	75	81					16																	677355		2201	4300	6501	SO:0001583	missense	0			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.579G>T	16.37:g.677355G>T	ENSP00000248139:p.Gln193His		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q193H	ENST00000248139.3	37	c.579	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035607	0.75617	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.17	3.2	0.36748	SOCS protein, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.73799	-0.3869	10	0.87932	D	0	.	8.2437	0.31675	0.245:0.0:0.755:0.0	.	193;174	Q96S21;Q5PXE8	RB40C_HUMAN;.	H	193	ENSP00000438492:Q193H;ENSP00000445050:Q193H;ENSP00000438382:Q193H;ENSP00000248139:Q193H	ENSP00000248139:Q193H	Q	+	3	2	RAB40C	617356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.878000	0.48515	0.567000	0.29293	0.561000	0.74099	CAG	RAB40C	-	pfam_SOCS_C,superfamily_P-loop_NTPase,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C	ENSG00000197562		0.642	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4		0	53	0	G	NM_021168		677355	1			no_errors	ENST00000248139	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	T	T	677355	G	T	677355	3	4	58	1	0	0	0	0	1	0	0	0	12987	991	35	3	601	3	RAB40C	16	677355	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	53187	677355	89677398	1696	16079											
WDR90	197335	genome.wustl.edu	37	chr16	708575	708575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgacgctcagtgaggaCgcccgcttcctgctgattgc	5	11	11	14	3	1	3	1	3	0	0	3	4	3	4	3	1	2	3	3	1	0	3	rs375770152	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:708575C>T	ENST00000293879.4	+	23	2817	c.2817C>T	c.(2815-2817)gaC>gaT	p.D939D	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.D939D			Q96KV7	WDR90_HUMAN	WD repeat domain 90	939										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCAGTGAGGACGCCCGCTTCC	0.667													C|||	4	0.000798722	0	0	5008	,	,		17423	0		0	False		,,,				2504	0.0041																0													45	53	51					16																	708575		2112	4207	6319	SO:0001819	synonymous_variant	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2817C>T	16.37:g.708575C>T			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D939	ENST00000293879.4	37	c.2817	CCDS42092.1	16																																																																																			WDR90	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000161996		0.667	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	-	0	63	0	C	NM_145294		708575	1	tier1	-	no_errors	ENST00000549091	ensembl	human	novel	74_37	silent	43.75	25	21	SNP	0.060	T	T	708575	C	T	708575	2	4	58	1	0	0	0	0	0	0	0	1	17386	535	19	1		1	WDR90	16	708575	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	31220	708575	89646178	1697	16080											
WDR90	197335	genome.wustl.edu	37	chr16	712011	712011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgtgtctgggacacgCgtgccggccgctgcttcttg	3	11	15	12	4	3	0	0	0	3	0	3	1	3	1	2	3	2	2	2	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:712011C>T	ENST00000293879.4	+	32	3985	c.3985C>T	c.(3985-3987)Cgt>Tgt	p.R1329C	WDR90_ENST00000549091.1_Missense_Mutation_p.R1329C			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1329										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGACACGCGTGCCGGCCG	0.662																																																	0													43	53	49					16																	712011		2084	4215	6299	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3985C>T	16.37:g.712011C>T	ENSP00000293879:p.Arg1329Cys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1329C	ENST00000293879.4	37	c.3985	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663406	0.47572	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.46819	0.86;0.86	5.18	-10.4	0.00318	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	1.191550	0.06124	U	0.669477	T	0.46190	0.1380	M	0.78049	2.395	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.50708	0.648;0.634	T	0.53143	-0.8480	10	0.56958	D	0.05	.	1.3792	0.02227	0.3181:0.1839:0.3154:0.1826	.	1329;1329	F8VUX9;Q96KV7	.;WDR90_HUMAN	C	1329	ENSP00000448122:R1329C;ENSP00000293879:R1329C	ENSP00000293879:R1329C	R	+	1	0	WDR90	652012	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.668000	0.05268	-2.557000	0.00476	-0.268000	0.10319	CGT	WDR90	-	superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000161996		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	-	0	29	0	C	NM_145294		712011	1	tier1	-	no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	57.14	9	12	SNP	0.000	T	T	712011	C	T	712011	3	4	58	1	0	0	0	0	1	0	0	0	17386	768	27	1	4111	1	WDR90	16	712011	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3436	712011	89642742	1698	16081											
CACNA1H	8912	genome.wustl.edu	37	chr16	1245456	1245456	+	Frame_Shift_Del	DEL	T	T	-																															ttgacgccttcattttcgccTtttttgcggtggagatggtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1245456delT	ENST00000348261.5	+	4	684	c.436delT	c.(436-438)tttfs	p.F147fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.F147fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.F147fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	147					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATTTTCGCCTTTTTTGCGGT	0.587																																																	0									,	15,3819		1,13,1903	91	83	86		,	2.7	1	16		86	41,7915		8,25,3945	no	frameshift,frameshift	CACNA1H	NM_021098.2,NM_001005407.1	,	9,38,5848	A1A1,A1R,RR		0.5153,0.3912,0.475	,	,	1245456	56,11734	2013	4166	6179	SO:0001589	frameshift_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.436delT	16.37:g.1245456delT	ENSP00000334198:p.Phe147fs		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.F147fs	ENST00000348261.5	37	c.436	CCDS45375.1	16																																																																																			CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.587	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0	98	0	T	NM_001005407		1245456	1	tier1		no_errors	ENST00000348261	ensembl	human	known	74_37	frame_shift_del	39.29	51	33	DEL	1.000	-	-	1245456	T	-	1245456	7	5	58	1	0	1	0	1	0	0	0	0	2552	1609	56	0	446	0	CACNA1H	16	1245456	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	533445	1245456	89109297	1699	16082											
TPSAB1	7177	genome.wustl.edu	37	chr16	1291473	1291473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcagggtgcaactgcGggagcagcacctctactacc	8	6	11	16	2	2	0	1	0	1	0	2	1	2	1	3	2	7	3	3	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1291473G>A	ENST00000338844.3	+	4	305	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	TPSAB1_ENST00000461509.2_Missense_Mutation_p.R98Q	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	91	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GTGCAACTGCGGGAGCAGCAC	0.677																																																	0													6	7	7					16																	1291473		2067	4073	6140	SO:0001583	missense	0			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"tryptase alpha II", "tryptase beta I", "tryptase-I", "tryptase-II", "tryptase-III"	191080	"tryptase beta 1"	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.272G>A	16.37:g.1291473G>A	ENSP00000343577:p.Arg91Gln		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R91Q	ENST00000338844.3	37	c.272	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	g	9.853	1.194105	0.22037	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	T;T	0.81415	-1.49;-1.49	3.38	1.37	0.22104	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.549745	0.15084	N	0.281496	T	0.72795	0.3505	N	0.20685	0.6	0.09310	N	1	D;D	0.58970	0.98;0.984	P;P	0.53722	0.614;0.733	T	0.62201	-0.6904	10	0.51188	T	0.08	.	5.7408	0.18092	0.2585:0.0:0.7415:0.0	.	82;91	Q15661-2;Q15661	.;TRYB1_HUMAN	Q	91;98	ENSP00000343577:R91Q;ENSP00000418247:R98Q	ENSP00000343577:R91Q	R	+	2	0	TPSAB1	1231474	0.000000	0.05858	0.488000	0.27440	0.388000	0.30384	0.188000	0.17018	0.271000	0.22005	-0.346000	0.07831	CGG	TPSAB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000172236		0.677	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	-	0	48	0	G	NM_003294		1291473	1	tier1	-	no_errors	ENST00000338844	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.005	A	A	1291473	G	A	1291473	3	1	58	1	0	0	0	0	1	0	0	0	16471	1116	39	1	282	1	TPSAB1	16	1291473	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	46017	1291473	89063280	1700	16083											
TELO2	9894	genome.wustl.edu	37	chr16	1545436	1545436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggaggcgcagtgtcGgcagcagacgcagcccggct	7	5	17	12	4	0	2	0	1	0	1	1	3	0	3	1	4	2	6	1	4	0	0	rs554969175		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1545436G>A	ENST00000262319.6	+	3	704	c.425G>A	c.(424-426)cGg>cAg	p.R142Q		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	142					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCGCAGTGTCGGCAGCAGACG	0.677													G|||	1	0.000199681	0	0	5008	,	,		14399	0.001		0	False		,,,				2504	0																0													13	12	13					16																	1545436		2146	4203	6349	SO:0001583	missense	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"TEL2, telomere maintenance 2, homolog (S. cerevisiae)"			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.425G>A	16.37:g.1545436G>A	ENSP00000262319:p.Arg142Gln		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.R142Q	ENST00000262319.6	37	c.425	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	G	3.337	-0.135507	0.06711	.	.	ENSG00000100726	ENST00000262319	D	0.83914	-1.78	5.01	1.37	0.22104	.	0.875327	0.09996	N	0.729034	T	0.67031	0.2850	N	0.20530	0.585	0.24318	N	0.995059	B	0.18968	0.032	B	0.09377	0.004	T	0.49113	-0.8973	10	0.12766	T	0.61	-0.5734	7.5412	0.27740	0.4366:0.0:0.5634:0.0	.	142	Q9Y4R8	TELO2_HUMAN	Q	142	ENSP00000262319:R142Q	ENSP00000262319:R142Q	R	+	2	0	TELO2	1485437	0.827000	0.29292	0.035000	0.18076	0.077000	0.17291	1.737000	0.38197	0.510000	0.28216	-0.140000	0.14226	CGG	TELO2	-	NULL	ENSG00000100726		0.677	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	-	0	54	0	G	NM_016111		1545436	1	tier1	-	no_errors	ENST00000262319	ensembl	human	known	74_37	missense	38.10	26	16	SNP	0.777	A	A	1545436	G	A	1545436	3	1	58	1	0	0	0	0	1	0	0	0	15804	1116	39	1	431	1	TELO2	16	1545436	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	253963	1545436	88809317	1701	16084											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1798334	1798334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagagacccgcctggacCgcacaggaagcaggtactgg	10	4	14	13	2	0	1	0	0	0	1	1	4	1	3	4	4	2	3	4	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1798334C>T	ENST00000250894.4	+	7	1238	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R361C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	361					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCGCCTGGACCGCACAGGAAG	0.582																																																	0													40	41	40					16																	1798334		1958	4139	6097	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1081C>T	16.37:g.1798334C>T	ENSP00000250894:p.Arg361Cys		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R361C	ENST00000250894.4	37	c.1081	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189509	0.57909	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.32988	1.43;1.47	5.17	5.17	0.71159	.	0.055990	0.64402	D	0.000001	T	0.45074	0.1324	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	P;P;P	0.56216	0.676;0.772;0.794	T	0.41840	-0.9486	10	0.87932	D	0	-31.0839	18.6245	0.91332	0.0:1.0:0.0:0.0	.	362;361;361	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	C	361	ENSP00000250894:R361C;ENSP00000348290:R361C	ENSP00000250894:R361C	R	+	1	0	MAPK8IP3	1738335	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.067000	0.71193	2.568000	0.86640	0.579000	0.79373	CGC	MAPK8IP3	-	NULL	ENSG00000138834		0.582	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0	43	0	C	NM_001040439		1798334	1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T	T	1798334	C	T	1798334	3	4	58	1	0	0	0	0	1	0	0	0	9324	652	23	1	1107	1	MAPK8IP3	16	1798334	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	252898	1798334	88556419	1702	16085											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1818241	1818241	+	Frame_Shift_Del	DEL	G	G	-																															ctggggagggcgcccgtcccGggggcatcatccacgtgtat																								rs566096469	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1818241delG	ENST00000250894.4	+	30	3758	c.3601delG	c.(3601-3603)gggfs	p.G1202fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.G1196fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1202					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGCCCGTCCCGGGGGCATCAT	0.642																																																	0													61	70	67					16																	1818241		2085	4208	6293	SO:0001589	frameshift_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3601delG	16.37:g.1818241delG	ENSP00000250894:p.Gly1202fs		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Frame_Shift_Del	DEL	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.G1202fs	ENST00000250894.4	37	c.3601	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL	ENSG00000138834		0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2		0	65	0	G	NM_001040439		1818241	1	tier1		no_errors	ENST00000250894	ensembl	human	known	74_37	frame_shift_del	26.67	33	12	DEL	0.844	-	-	1818241	G	-	1818241	7	5	58	1	0	1	0	1	0	0	0	0	9324	1116	39	0	3735	0	MAPK8IP3	16	1818241	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	19907	1818241	88536512	1703	16086											
TSC2	7249	genome.wustl.edu	37	chr16	2126499	2126499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactctgccagggcctgcGgtccaatgtcctcttgtctt	4	13	9	15	1	4	0	1	0	3	0	6	0	6	0	4	2	2	0	4	2	1	2	rs397515046		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2126499G>A	ENST00000219476.3	+	25	3380	c.2750G>A	c.(2749-2751)cGg>cAg	p.R917Q	TSC2_ENST00000382538.6_Missense_Mutation_p.R868Q|TSC2_ENST00000353929.4_Missense_Mutation_p.R917Q|TSC2_ENST00000401874.2_Missense_Mutation_p.R917Q|TSC2_ENST00000350773.4_Missense_Mutation_p.R917Q|TSC2_ENST00000439673.2_Missense_Mutation_p.R880Q|TSC2_ENST00000568454.1_Missense_Mutation_p.R928Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	917					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGGCCTGCGGTCCAATGTC	0.642			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													109	101	104					16																	2126499		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2750G>A	16.37:g.2126499G>A	ENSP00000219476:p.Arg917Gln		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.R917Q	ENST00000219476.3	37	c.2750	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523759	0.85600	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.88277	-2.33;-2.26;-2.26;-2.36;-2.31;-2.33	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	N	0.20401	0.57	0.80722	D	1	P;P;P;D;P;D	0.76494	0.947;0.875;0.882;0.999;0.777;0.998	P;B;P;D;B;D	0.80764	0.588;0.428;0.509;0.994;0.362;0.945	D	0.85531	0.1209	10	0.12103	T	0.63	-27.8281	18.0005	0.89196	0.0:0.0:1.0:0.0	.	868;880;917;917;917;917	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	Q	917;917;917;880;868;917	ENSP00000219476:R917Q;ENSP00000384468:R917Q;ENSP00000248099:R917Q;ENSP00000399232:R880Q;ENSP00000371978:R868Q;ENSP00000344383:R917Q	ENSP00000219476:R917Q	R	+	2	0	TSC2	2066500	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.147000	0.94646	2.319000	0.78375	0.561000	0.74099	CGG	TSC2	-	NULL	ENSG00000103197		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	40	0	G	NM_000548		2126499	1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	67.86	9	19	SNP	1.000	A	A	2126499	G	A	2126499	3	1	58	1	0	0	0	0	1	0	0	0	16654	1116	39	1	2844	1	TSC2	16	2126499	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	308258	2126499	88228254	1704	16087											
PKD1	5310	genome.wustl.edu	37	chr16	2156530	2156530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccctcctcctcgccagagCggcccagcaccgtgagcgtg	6	5	12	18	4	0	2	0	1	0	1	3	2	2	2	6	1	4	1	6	1	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2156530C>T	ENST00000262304.4	-	18	7566	c.7358G>A	c.(7357-7359)cGc>cAc	p.R2453H	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.R2453H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2453	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCGCCAGAGCGGCCCAGCAC	0.726																																																	0													10	12	12					16																	2156530		2136	4226	6362	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7358G>A	16.37:g.2156530C>T	ENSP00000262304:p.Arg2453His		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.R2453H	ENST00000262304.4	37	c.7358	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	7.358	0.624240	0.14193	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.70164	-0.46;-0.46	4.81	-9.61	0.00550	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	1.506690	0.03433	N	0.208082	T	0.41236	0.1150	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.013;0.012	B;B	0.09377	0.002;0.004	T	0.28004	-1.0057	10	0.29301	T	0.29	.	0.3857	0.00402	0.2415:0.2015:0.1917:0.3653	.	2453;2453	P98161-3;P98161	.;PKD1_HUMAN	H	2453;2453;1804;732	ENSP00000262304:R2453H;ENSP00000399501:R2453H	ENSP00000262304:R2453H	R	-	2	0	PKD1	2096531	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-1.317000	0.02707	-2.983000	0.00282	-1.472000	0.01007	CGC	PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat	ENSG00000008710		0.726	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	74	0	C			2156530	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	48.21	29	27	SNP	0.000	T	T	2156530	C	T	2156530	3	4	58	1	0	0	0	0	1	0	0	0	12002	768	27	1	5669	1	PKD1	16	2156530	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	30031	2156530	88198223	1705	16088											
CCNF	899	genome.wustl.edu	37	chr16	2499297	2499297	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctaggtccccactgtggtGgattacaaggaggtcctgct	7	11	13	10	0	1	0	0	0	1	0	3	2	3	2	3	5	2	1	3	5	3	2	rs111543933	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2499297G>T	ENST00000397066.4	+	12	1321	c.1233G>T	c.(1231-1233)gtG>gtT	p.V411V		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	411					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCACTGTGGTGGATTACAAGG	0.657																																																	0													59	59	59					16																	2499297		2198	4300	6498	SO:0001819	synonymous_variant	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1233G>T	16.37:g.2499297G>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.V411	ENST00000397066.4	37	c.1233	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like	ENSG00000162063		0.657	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	-	0	15	0	G	NM_001761		2499297	1	tier1	-	no_errors	ENST00000397066	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.949	T	T	2499297	G	T	2499297	2	4	58	1	0	0	0	0	0	0	0	1	2929	1335	47	3		3	CCNF	16	2499297	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	342767	2499297	87855456	1706	16089											
CCNF	899	genome.wustl.edu	37	chr16	2499426	2499426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcccgcctggctgcCgcagccctgctcctggccag	3	5	12	21	2	0	0	0	0	0	0	1	0	1	0	8	2	4	3	8	2	0	0	rs373935407		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2499426C>T	ENST00000397066.4	+	12	1450	c.1362C>T	c.(1360-1362)gcC>gcT	p.A454A		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	454					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCCTGGCTGCCGCAGCCCTGC	0.667																																																	0								C		0,4394		0,0,2197	33	34	34		1362	-10.8	0	16		34	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CCNF	NM_001761.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		454/787	2499426	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1362C>T	16.37:g.2499426C>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.A454	ENST00000397066.4	37	c.1362	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000162063		0.667	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1		0	13	0	C	NM_001761		2499426	1			no_errors	ENST00000397066	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.004	T	T	2499426	C	T	2499426	2	4	58	1	0	0	0	0	0	0	0	1	2929	639	23	1		1	CCNF	16	2499426	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	129	2499426	87855327	1707	16090											
NTN3	4917	genome.wustl.edu	37	chr16	2522299	2522299	+	Frame_Shift_Del	DEL	C	C	-																															ttcagcatgcaggacagcagCcccccaggcctggacctgga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2522299delC	ENST00000293973.1	+	1	800	c.597delC	c.(595-597)agcfs	p.S199fs	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	199	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						AGGACAGCAGCCCCCCAGGCC	0.687																																																	0													18	19	19					16																	2522299		2192	4295	6487	SO:0001589	frameshift_variant	0			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"Netrins"	8030	protein-coding gene	gene with protein product	"Netrin-3"	602349	"netrin 2 (chicken)-like", "netrin 2-like (chicken)"	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.597delC	16.37:g.2522299delC	ENSP00000293973:p.Ser199fs			Frame_Shift_Del	DEL	pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.P201fs	ENST00000293973.1	37	c.597	CCDS10469.1	16																																																																																			NTN3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000162068		0.687	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN3	HGNC	protein_coding	OTTHUMT00000250812.1		0	53	0	C	NM_006181		2522299	1	tier1		no_errors	ENST00000293973	ensembl	human	known	74_37	frame_shift_del	29.55	31	13	DEL	1.000	-	-	2522299	C	-	2522299	7	5	58	1	0	1	0	1	0	0	0	0	10740	738	26	0	599	0	NTN3	16	2522299	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	22873	2522299	87832454	1708	16091											
SRRM2	23524	genome.wustl.edu	37	chr16	2814067	2814069	+	In_Frame_Del	DEL	CCT	CCT	-																															aggaggatgctactgcatcaCctcctagacagaaagacaaa																								rs560663886		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2814067_2814069delCCT	ENST00000301740.8	+	11	4087_4089	c.3538_3540delCCT	c.(3538-3540)cctdel	p.P1181del		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1181	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TACTGCATCACCTCCTAGACAGA	0.468																																																	0																																										SO:0001651	inframe_deletion	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3538_3540delCCT	16.37:g.2814070_2814072delCCT	ENSP00000301740:p.Pro1181del		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	pfam_mRNA_splic_Cwf21	p.P1181in_frame_del	ENST00000301740.8	37	c.3538_3540	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1		0	13	0	CCT			2814069	1	tier1		no_errors	ENST00000301740	ensembl	human	known	74_37	in_frame_del	56.25	7	9	DEL	0.100:0.225:0.237	-	-	2814069	CCT	-	2814067	7	5	58	1	0	1	0	1	0	0	0	0	15216	507	18	0	3576	0	SRRM2	16	2814067	In_Frame_Del	DEL	CCT	TCGA-L5-A4OI-01A-11D-A27G-09	291768	2814067	87540686	1709	16092											
FLYWCH1	84256	genome.wustl.edu	37	chr16	2983467	2983467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctctaccgcaggggtcCgggtcccctgactctcacca	5	10	10	16	2	2	1	1	1	2	0	5	1	4	1	5	3	2	2	5	3	1	2	rs375862744		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2983467C>A	ENST00000253928.9	+	5	1538	c.1133C>A	c.(1132-1134)cCg>cAg	p.P378Q	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.P377Q|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.P378Q			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	378						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CGCAGGGGTCCGGGTCCCCTG	0.672																																																	0													12	19	16					16																	2983467		2108	4210	6318	SO:0001583	missense	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1133C>A	16.37:g.2983467C>A	ENSP00000253928:p.Pro378Gln		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	pfam_Znf_FLYWCH	p.P378Q	ENST00000253928.9	37	c.1133		16	.	.	.	.	.	.	.	.	.	.	C	9.848	1.192780	0.21954	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.13	2.03	0.26663	.	.	.	.	.	T	0.31949	0.0813	L	0.27053	0.805	0.09310	N	1	B;D;B	0.54397	0.425;0.966;0.203	B;P;B	0.50860	0.086;0.652;0.058	T	0.12811	-1.0533	8	0.28530	T	0.3	.	9.6056	0.39632	0.3749:0.6251:0.0:0.0	.	378;378;377	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	Q	378;378;377	.	ENSP00000253928:P378Q	P	+	2	0	FLYWCH1	2923468	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	-0.185000	0.09684	0.412000	0.25729	0.561000	0.74099	CCG	FLYWCH1	-	NULL	ENSG00000059122		0.672	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	-	0	62	0	C	NM_032296		2983467	1	tier1	-	no_errors	ENST00000399667	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.003	A	A	2983467	C	A	2983467	3	1	58	1	0	0	0	0	1	0	0	0	5969	652	23	2	1140	2	FLYWCH1	16	2983467	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	169400	2983467	87371286	1710	16093											
ZNF205	7755	genome.wustl.edu	37	chr16	3170161	3170161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcgcacccaccgtggCgtgcggccctacgcctgccc	5	4	11	21	5	0	0	0	0	0	0	0	0	0	0	6	2	4	1	6	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:3170161C>T	ENST00000382192.3	+	7	1705	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	ZNF205_ENST00000219091.4_Silent_p.G500G|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	500					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCACCGTGGCGTGCGGCCCT	0.687																																																	0													65	59	61					16																	3170161		2197	4299	6496	SO:0001819	synonymous_variant	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"Zinc fingers, C2H2-type", "-"	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1500C>T	16.37:g.3170161C>T			A8MZK0|D3DUB4|Q9BU95	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G500	ENST00000382192.3	37	c.1500	CCDS10494.2	16																																																																																			ZNF205	-	pfscan_Znf_C2H2	ENSG00000122386		0.687	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	-	0	73	0	C	NM_003456		3170161	1	tier1	-	no_errors	ENST00000219091	ensembl	human	known	74_37	silent	44.90	27	22	SNP	0.601	T	T	3170161	C	T	3170161	2	4	58	1	0	0	0	0	0	0	0	1	17812	755	27	1		1	ZNF205	16	3170161	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	186694	3170161	87184592	1711	16094											
TIGD7	91151	genome.wustl.edu	37	chr16	3349612	3349612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgtttgcagctcaagaTcacaccttgattcattggtt	9	13	8	11	1	3	2	3	1	0	1	3	2	3	2	2	1	3	4	2	1	1	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:3349612T>C	ENST00000396862.1	-	2	2831	c.1003A>G	c.(1003-1005)Atc>Gtc	p.I335V	TIGD7_ENST00000268674.2_Missense_Mutation_p.I335V|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	335	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CAGCTCAAGatcacaccttga	0.403																																																	0													57	59	58					16																	3349612		2197	4300	6497	SO:0001583	missense	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1003A>G	16.37:g.3349612T>C	ENSP00000380071:p.Ile335Val		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.I335V	ENST00000396862.1	37	c.1003	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	T	6.796	0.515969	0.12944	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.42900	0.96;0.96	4.52	3.42	0.39159	.	0.348201	0.20390	U	0.093277	T	0.33962	0.0881	L	0.60957	1.885	0.21445	N	0.999682	B	0.02656	0.0	B	0.06405	0.002	T	0.24799	-1.0150	10	0.20519	T	0.43	.	6.6518	0.22967	0.0:0.1109:0.0:0.8891	.	335	Q6NT04	TIGD7_HUMAN	V	335	ENSP00000380071:I335V;ENSP00000268674:I335V	ENSP00000268674:I335V	I	-	1	0	TIGD7	3289613	0.979000	0.34478	0.992000	0.48379	0.945000	0.59286	1.179000	0.31993	0.602000	0.29896	0.533000	0.62120	ATC	TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000140993		0.403	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	-	0	29	0	T	NM_033208		3349612	-1	tier1	-	no_errors	ENST00000268674	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.999	C	C	3349612	T	C	3349612	3	2	58	1	0	0	0	0	1	0	0	0	15948	1435	50	4	650	4	TIGD7	16	3349612	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	179451	3349612	87005141	1712	16095											
CREBBP	1387	genome.wustl.edu	37	chr16	3828084	3828085	+	Frame_Shift_Ins	INS	-	-	C																															gctggtaaggctggctggttINSccccaagatgccttgtttat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:3828084_3828085insC	ENST00000262367.5	-	10	2849_2850	c.2040_2041insG	c.(2038-2043)gggaacfs	p.N681fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.N643fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	681					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGCTGGTTCCCCAAGATGC	0.46			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0																																										SO:0001589	frameshift_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2041dupG	16.37:g.3828088_3828088dupC	ENSP00000262367:p.Asn681fs		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Ins	INS	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.N680fs	ENST00000262367.5	37	c.2041_2040	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.46	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0	95	0	-	NM_004380		3828085	-1	tier1		no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_ins	28.04	77	30	INS	1.000:1.000	C	C	3828085	-	C	3828084	7	5	58	1	0	1	1	0	0	0	0	0	3868	1783	62	0	5375	0	CREBBP	16	3828084	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	478472	3828084	86526669	1713	16096											
ADCY9	115	genome.wustl.edu	37	chr16	4016810	4016810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccgcttccacgtctcCgtggtagtggaggcggtagc	7	9	14	11	4	1	1	0	0	1	1	4	2	3	2	3	4	1	3	3	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4016810C>T	ENST00000294016.3	-	11	3566	c.3028G>A	c.(3028-3030)Gga>Aga	p.G1010R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1010					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCACGTCTCCGTGGTAGTGG	0.572																																																	0													118	110	113					16																	4016810		2197	4300	6497	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3028G>A	16.37:g.4016810C>T	ENSP00000294016:p.Gly1010Arg		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G1010R	ENST00000294016.3	37	c.3028	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430981	0.83776	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88776	0.3267	10	0.39692	T	0.17	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	1010	O60503	ADCY9_HUMAN	R	1010	ENSP00000294016:G1010R	ENSP00000294016:G1010R	G	-	1	0	ADCY9	3956811	1.000000	0.71417	0.984000	0.44739	0.839000	0.47603	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	GGA	ADCY9	-	NULL	ENSG00000162104		0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0	46	0	C			4016810	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	50.00	18	18	SNP	1.000	T	T	4016810	C	T	4016810	3	4	58	1	0	0	0	0	1	0	0	0	301	661	23	1	1037	1	ADCY9	16	4016810	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	188726	4016810	86337943	1714	16097											
ADCY9	115	genome.wustl.edu	37	chr16	4039070	4039070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaactgattaatgggCggcttaaaaaagtaatcttt	14	12	10	5	1	1	2	0	2	1	0	1	2	1	2	0	3	1	3	0	3	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4039070C>T	ENST00000294016.3	-	6	2773	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	ADCY9_ENST00000571889.1_5'Flank	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	745					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATTAATGGGCGGCTTAAAAA	0.443																																																	0													112	105	107					16																	4039070		2197	4300	6497	SO:0001819	synonymous_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2235G>A	16.37:g.4039070C>T			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P745	ENST00000294016.3	37	c.2235	CCDS32382.1	16																																																																																			ADCY9	-	NULL	ENSG00000162104		0.443	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0	45	0	C			4039070	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	silent	52.94	16	18	SNP	0.443	T	T	4039070	C	T	4039070	2	4	58	1	0	0	0	0	0	0	0	1	301	755	27	1		1	ADCY9	16	4039070	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	22260	4039070	86315683	1715	16098											
ZNF500	26048	genome.wustl.edu	37	chr16	4802783	4802783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgctcgcccgtgtgtGtgcgctggtgcttggtcaag	4	10	16	11	4	1	0	1	0	0	0	2	0	1	0	2	3	2	3	2	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4802783G>A	ENST00000219478.6	-	6	1336	c.1037C>T	c.(1036-1038)aCa>aTa	p.T346I	ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.T346I|RP11-127I20.7_ENST00000588099.1_RNA			O60304	ZN500_HUMAN	zinc finger protein 500	346					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCCGTGTGTGTGCGCTGGTG	0.612																																																	0													110	93	99					16																	4802783		2197	4300	6497	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.1037C>T	16.37:g.4802783G>A	ENSP00000219478:p.Thr346Ile		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T346I	ENST00000219478.6	37	c.1037	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	G	6.927	0.540787	0.13250	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.12672	2.66;2.66	3.76	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.05330	-0.07	0.24723	N	0.993138	B;B	0.21309	0.054;0.054	B;B	0.24155	0.051;0.051	T	0.40590	-0.9555	9	0.02654	T	1	.	8.9455	0.35756	0.1158:0.0:0.8842:0.0	.	346;346	B4DNN9;O60304	.;ZN500_HUMAN	I	346	ENSP00000445714:T346I;ENSP00000219478:T346I	ENSP00000219478:T346I	T	-	2	0	ZNF500	4742784	0.000000	0.05858	0.991000	0.47740	0.918000	0.54935	-0.008000	0.12788	0.564000	0.29238	0.655000	0.94253	ACA	ZNF500	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103199		0.612	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	-	0	93	0	G	XM_085507		4802783	-1	tier1	-	no_errors	ENST00000219478	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.945	A	A	4802783	G	A	4802783	3	1	58	1	0	0	0	0	1	0	0	0	17996	1377	48	3	409	3	ZNF500	16	4802783	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	763713	4802783	85551970	1716	16099											
PPL	5493	genome.wustl.edu	37	chr16	4935547	4935547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccagggcggccacacGctgctgcaggaggagcacct	8	5	14	14	2	1	0	1	0	0	0	1	2	1	2	3	4	4	4	3	4	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4935547G>A	ENST00000345988.2	-	22	3198	c.3109C>T	c.(3109-3111)Cgt>Tgt	p.R1037C	PPL_ENST00000590782.2_Missense_Mutation_p.R1035C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1037					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGGCCACACGCTGCTGCAGG	0.657																																																	0													30	35	33					16																	4935547		2197	4300	6497	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3109C>T	16.37:g.4935547G>A	ENSP00000340510:p.Arg1037Cys		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1037C	ENST00000345988.2	37	c.3109	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900997	0.92035	.	.	ENSG00000118898	ENST00000345988	T	0.51071	0.72	4.98	4.98	0.66077	.	0.071679	0.56097	D	0.000021	T	0.57548	0.2061	L	0.57536	1.79	0.80722	D	1	D	0.64830	0.994	P	0.51355	0.667	T	0.63857	-0.6542	10	0.87932	D	0	.	18.2832	0.90105	0.0:0.0:1.0:0.0	.	1037	O60437	PEPL_HUMAN	C	1037	ENSP00000340510:R1037C	ENSP00000340510:R1037C	R	-	1	0	PPL	4875548	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.434000	0.97515	2.321000	0.78463	0.555000	0.69702	CGT	PPL	-	NULL	ENSG00000118898		0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0	32	0	G	NM_002705		4935547	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	A	A	4935547	G	A	4935547	3	1	58	1	0	0	0	0	1	0	0	0	12376	1087	38	1	2165	1	PPL	16	4935547	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	132764	4935547	85419206	1717	16100											
ALG1	56052	genome.wustl.edu	37	chr16	5128869	5128869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctgctggtcagcagcacGagctggacaggtctgcagga	8	6	15	12	1	2	0	1	0	1	0	2	3	2	2	1	4	5	5	1	4	0	0	rs537211066		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:5128869G>A	ENST00000262374.5	+	7	883	c.852G>A	c.(850-852)acG>acA	p.T284T	ALG1_ENST00000544428.1_Silent_p.T173T|ALG1_ENST00000588623.1_Silent_p.T173T	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	284					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCAGCAGCACGAGCTGGACAG	0.682													G|||	1	0.000199681	0	0	5008	,	,		15613	0		0	False		,,,				2504	0.001																0													18	17	17					16																	5128869		2192	4288	6480	SO:0001819	synonymous_variant	0			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"Glycosyltransferase group 1 domain containing"	18294	protein-coding gene	gene with protein product		605907	"asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)", "asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.852G>A	16.37:g.5128869G>A			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	pfam_Glyco_trans_1	p.T284	ENST00000262374.5	37	c.852	CCDS10528.1	16																																																																																			ALG1	-	pfam_Glyco_trans_1	ENSG00000033011		0.682	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	-	0	100	0	G	NM_019109		5128869	1	tier1	-	no_errors	ENST00000262374	ensembl	human	known	74_37	silent	37.78	56	34	SNP	0.786	A	A	5128869	G	A	5128869	2	1	58	1	0	0	0	0	0	0	0	1	510	1045	37	1		1	ALG1	16	5128869	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	193322	5128869	85225884	1718	16101											
USP7	7874	genome.wustl.edu	37	chr16	9017259	9017259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaggttgcctcggagcGccaactggtgtctgcaaaaa	11	8	12	10	2	1	1	0	1	1	0	2	2	1	2	2	3	4	2	2	3	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:9017259G>A	ENST00000344836.4	-	3	394	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	USP7_ENST00000381886.4_Missense_Mutation_p.R50C|USP7_ENST00000535863.1_5'UTR|USP7_ENST00000566224.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	66	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCCTCGGAGCGCCAACTGGTG	0.478																																																	0													59	52	54					16																	9017259		2197	4300	6497	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.196C>T	16.37:g.9017259G>A	ENSP00000343535:p.Arg66Cys		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.R66C	ENST00000344836.4	37	c.196	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031650	0.75504	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000542333	T;T	0.07688	3.17;3.18	5.25	5.25	0.73442	TRAF-like (1);	0.093180	0.64402	D	0.000001	T	0.29749	0.0743	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.65443	0.884;0.935	T	0.01591	-1.1317	10	0.59425	D	0.04	.	14.1213	0.65189	0.0:0.0:0.8498:0.1502	.	66;50	Q93009;B7Z815	UBP7_HUMAN;.	C	66;74;8	ENSP00000343535:R66C;ENSP00000439272:R8C	ENSP00000343535:R66C	R	-	1	0	USP7	8924760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.626000	0.88956	0.655000	0.94253	CGC	USP7	-	superfamily_TRAF-like	ENSG00000187555		0.478	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	-	0	41	0	G			9017259	-1	tier1	-	no_errors	ENST00000344836	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A	A	9017259	G	A	9017259	3	1	58	1	0	0	0	0	1	0	0	0	17137	1087	38	1	3228	1	USP7	16	9017259	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3888390	9017259	81337494	1719	16102											
GRIN2A	2903	genome.wustl.edu	37	chr16	9857619	9857619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtagacctgctccccggtgGctgggttacctgtctcctga	4	11	13	13	1	1	2	0	1	1	1	3	2	2	2	5	4	2	4	5	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:9857619G>A	ENST00000396573.2	-	14	4091	c.3782C>T	c.(3781-3783)gCc>gTc	p.A1261V	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1261V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1261V|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1261					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCCCGGTGGCTGGGTTACC	0.527																																																	0													105	95	98					16																	9857619		2197	4300	6497	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3782C>T	16.37:g.9857619G>A	ENSP00000379818:p.Ala1261Val		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A1261V	ENST00000396573.2	37	c.3782	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723664	0.30593	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.11712	2.75;2.75;2.75	5.11	4.14	0.48551	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.645793	0.17726	N	0.164055	T	0.13586	0.0329	L	0.58101	1.795	0.26009	N	0.982019	B	0.31125	0.309	B	0.37550	0.253	T	0.14896	-1.0456	9	.	.	.	.	7.85	0.29448	0.0808:0.0:0.7574:0.1618	.	1261	Q12879	NMDE1_HUMAN	V	1261	ENSP00000379818:A1261V;ENSP00000332549:A1261V;ENSP00000379820:A1261V	.	A	-	2	0	GRIN2A	9765120	0.051000	0.20477	0.136000	0.22124	0.997000	0.91878	1.981000	0.40628	1.131000	0.42111	0.655000	0.94253	GCC	GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.527	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	-	0	110	0	G			9857619	-1	tier1	-	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	32.18	59	28	SNP	0.031	A	A	9857619	G	A	9857619	3	1	58	1	0	0	0	0	1	0	0	0	6806	1203	42	3	616	3	GRIN2A	16	9857619	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	840360	9857619	80497134	1720	16103											
CLEC16A	23274	genome.wustl.edu	37	chr16	11272291	11272291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taagcccagcaagaacgtggCcaggagcgcagccgtggaga	12	3	15	11	3	0	2	0	0	0	2	0	4	0	3	3	3	5	2	3	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:11272291C>T	ENST00000409790.1	+	24	3136	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	CLEC16A_ENST00000381822.2_Missense_Mutation_p.A56V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGAACGTGGCCAGGAGCGCA	0.622																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											84	101	95					16																	11272291		2172	4251	6423	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2906C>T	16.37:g.11272291C>T	ENSP00000387122:p.Ala969Val			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.A969V	ENST00000409790.1	37	c.2906	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	4.564	0.104840	0.08731	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.46063	0.88	4.49	2.37	0.29283	.	1.046320	0.07465	N	0.901303	T	0.16514	0.0397	N	0.02011	-0.69	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.0	T	0.29027	-1.0025	10	0.17832	T	0.49	-2.6629	4.7159	0.12894	0.0:0.3661:0.4042:0.2297	.	56;969	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	V	969;969;56	ENSP00000387122:A969V	ENSP00000371244:A56V	A	+	2	0	CLEC16A	11179792	0.003000	0.15002	0.001000	0.08648	0.244000	0.25665	0.068000	0.14531	0.425000	0.26087	0.655000	0.94253	GCC	CLEC16A	-	NULL	ENSG00000038532		0.622	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0	53	0	C	NM_015226		11272291	1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	43.24	21	16	SNP	0.001	T	T	11272291	C	T	11272291	3	4	58	1	0	0	0	0	1	0	0	0	3507	739	26	3	2996	3	CLEC16A	16	11272291	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1414672	11272291	79082462	1721	16104											
MKL2	57496	genome.wustl.edu	37	chr16	14346300	14346300	+	Frame_Shift_Del	DEL	C	C	-																															cagtcgccaagacaaaagatCccccccgctatgaggaggcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:14346300delC	ENST00000341243.5	+	13	2611	c.2611delC	c.(2611-2613)cccfs	p.P872fs	MKL2_ENST00000574045.1_Frame_Shift_Del_p.P833fs|MKL2_ENST00000318282.5_Frame_Shift_Del_p.P833fs|MKL2_ENST00000571589.1_Frame_Shift_Del_p.P883fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	872					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACAAAAGATCCCCCCCGCTA	0.562																																																	0													78	79	79					16																	14346300		2197	4300	6497	SO:0001589	frameshift_variant	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2611delC	16.37:g.14346300delC	ENSP00000345841:p.Pro872fs		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Del	DEL	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.R873fs	ENST00000341243.5	37	c.2611		16																																																																																			MKL2	-	NULL	ENSG00000186260		0.562	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding			0	34	0	C	NM_014048		14346300	1	tier1		no_errors	ENST00000341243	ensembl	human	known	74_37	frame_shift_del	36.36	21	12	DEL	1.000	-	-	14346300	C	-	14346300	7	5	58	1	0	1	0	1	0	0	0	0	9640	855	30	0	2544	0	MKL2	16	14346300	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	3074009	14346300	76008453	1722	16105											
NTAN1	123803	genome.wustl.edu	37	chr16	15131990	15131990	+	Frame_Shift_Del	DEL	T	T	-																															gtgtgagctggagatgggtgTttttttaaaaacatcaaggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:15131990delT	ENST00000287706.3	-	10	923	c.831delA	c.(829-831)aaafs	p.K277fs	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	277					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)	p.K277fs*>34(2)		endometrium(1)|large_intestine(4)|lung(3)	8						GAGATGGGTGTTTTTTTAAAA	0.413																																																	2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)											74	75	75					16																	15131990		2197	4300	6497	SO:0001589	frameshift_variant	0			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.831delA	16.37:g.15131990delT	ENSP00000287706:p.Lys277fs		Q7Z4Z0	Frame_Shift_Del	DEL	NULL	p.K277fs	ENST00000287706.3	37	c.831	CCDS10558.1	16																																																																																			NTAN1	-	NULL	ENSG00000157045		0.413	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTAN1	HGNC	protein_coding	OTTHUMT00000252089.1		0	96	0	T	NM_173474		15131990	-1	tier1		no_errors	ENST00000287706	ensembl	human	known	74_37	frame_shift_del	31.63	67	31	DEL	0.819	-	-	15131990	T	-	15131990	7	5	58	1	0	1	0	1	0	0	0	0	10734	1722	60	0	105	0	NTAN1	16	15131990	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	785690	15131990	75222763	1723	16106											
MYH11	4629	genome.wustl.edu	37	chr16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-																															tcctgcacctgcgcctccagCttcttcttcttatgttccac																								rs149241435		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:15820795_15820797delCTT	ENST00000300036.5	-	28	3875_3877	c.3766_3768delAAG	c.(3766-3768)aagdel	p.K1256del	MYH11_ENST00000452625.2_In_Frame_Del_p.K1263del|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_In_Frame_Del_p.K1263del|MYH11_ENST00000576790.2_In_Frame_Del_p.K1256del	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1256			Missing (in AAT4). {ECO:0000269|PubMed:16444274}.		axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGCCTCCAGCTTCTTCTTCTTA	0.611			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	2	Deletion - In frame(2)	large_intestine(2)																																								SO:0001651	inframe_deletion	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3766_3768delAAG	16.37:g.15820804_15820806delCTT	ENSP00000300036:p.Lys1256del		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	In_Frame_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K1263in_frame_del	ENST00000300036.5	37	c.3789_3787	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000133392		0.611	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0	72	0	CTT	NM_001040113		15820797	-1	tier1		no_errors	ENST00000396324	ensembl	human	known	74_37	in_frame_del	34.43	40	21	DEL	1.000:1.000:1.000	-	-	15820797	CTT	-	15820795	7	5	58	1	0	1	0	1	0	0	0	0	10069	796	28	0	2241	0	MYH11	16	15820795	In_Frame_Del	DEL	CTT	TCGA-L5-A4OI-01A-11D-A27G-09	688805	15820795	74533958	1724	16107											
MYH11	4629	genome.wustl.edu	37	chr16	15857682	15857682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcatggacgcctggtctGtgtttctttccttcttgaag	4	16	11	10	1	3	1	0	1	3	0	4	2	4	2	2	3	0	2	2	3	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:15857682G>T	ENST00000300036.5	-	10	1209	c.1100C>A	c.(1099-1101)aCa>aAa	p.T367K	MYH11_ENST00000452625.2_Missense_Mutation_p.T374K|MYH11_ENST00000396324.3_Missense_Mutation_p.T374K|MYH11_ENST00000576790.2_Missense_Mutation_p.T367K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	367	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCTGGTCTGTGTTTCTTTC	0.507			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													208	180	190					16																	15857682		2197	4300	6497	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1100C>A	16.37:g.15857682G>T	ENSP00000300036:p.Thr367Lys		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.T374K	ENST00000300036.5	37	c.1121	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	g	16.40	3.112604	0.56398	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.31	5.31	0.75309	Myosin head, motor domain (2);	0.307696	0.32328	N	0.006247	D	0.85248	0.5653	L	0.51914	1.62	0.40256	D	0.978127	B;B;B;B;B;B	0.17852	0.003;0.024;0.024;0.024;0.024;0.024	B;B;B;B;B;B	0.15870	0.014;0.009;0.009;0.009;0.009;0.014	T	0.82659	-0.0348	10	0.72032	D	0.01	.	17.9753	0.89126	0.0:0.0:1.0:0.0	.	374;367;367;374;367;374	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	K	367;367;374;374;374	ENSP00000300036:T367K;ENSP00000345136:T367K;ENSP00000379616:T374K;ENSP00000407821:T374K	ENSP00000300036:T367K	T	-	2	0	MYH11	15765183	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.981000	0.56902	2.482000	0.83794	0.556000	0.70494	ACA	MYH11	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133392		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	-	0	70	0	G	NM_001040113		15857682	-1	tier1	-	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	T	T	15857682	G	T	15857682	3	4	58	1	0	0	0	0	1	0	0	0	10069	1377	48	3	4981	3	MYH11	16	15857682	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	36887	15857682	74497071	1725	16108											
XYLT1	64131	genome.wustl.edu	37	chr16	17292232	17292232	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacattgctgtactgccTggagacctggagcacttgcc	7	9	13	12	1	0	1	0	0	0	1	0	4	0	3	3	3	5	3	3	3	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:17292232T>G	ENST00000261381.6	-	5	1210	c.1126A>C	c.(1126-1128)Agg>Cgg	p.R376R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	376					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTACTGCCTGGAGACCTGG	0.587																																																	0													80	62	68					16																	17292232		2197	4300	6497	SO:0001819	synonymous_variant	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1126A>C	16.37:g.17292232T>G			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.R376	ENST00000261381.6	37	c.1126	CCDS10569.1	16																																																																																			XYLT1	-	pfam_Glyco_trans_14	ENSG00000103489		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	-	0	79	0	T	NM_022166		17292232	-1	tier1	-	no_errors	ENST00000261381	ensembl	human	known	74_37	silent	38.71	38	24	SNP	0.974	G	G	17292232	T	G	17292232	2	3	58	1	0	0	0	0	0	0	0	1	17512	1579	55	4		4	XYLT1	16	17292232	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1434550	17292232	73062521	1726	16109											
GPRC5B	51704	genome.wustl.edu	37	chr16	19884026	19884026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgtccaggtcgcacaGggacacgtactgagggagga	10	5	17	9	3	0	1	0	1	0	0	2	5	1	4	1	5	1	2	1	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:19884026G>T	ENST00000300571.2	-	2	333	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	GPRC5B_ENST00000537135.1_Missense_Mutation_p.L74M|GPRC5B_ENST00000569479.1_Missense_Mutation_p.L48M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.L48M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.L48M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	48					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTCGCACAGGGACACGTAC	0.652																																																	0													48	50	49					16																	19884026		2197	4300	6497	SO:0001583	missense	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.142C>A	16.37:g.19884026G>T	ENSP00000300571:p.Leu48Met		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.L74M	ENST00000300571.2	37	c.220	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157864	0.78114	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.36878	1.26;1.25;1.23	5.8	4.85	0.62838	.	0.000000	0.64402	D	0.000002	T	0.62429	0.2427	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.98;0.996	T	0.67094	-0.5757	9	.	.	.	.	13.8239	0.63340	0.073:0.0:0.927:0.0	.	74;48	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	48;48;48;74	ENSP00000300571:L48M;ENSP00000442858:L48M;ENSP00000441775:L74M	.	L	-	1	2	GPRC5B	19791527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.675000	0.68123	1.473000	0.48159	0.655000	0.94253	CTG	GPRC5B	-	NULL	ENSG00000167191		0.652	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	-	0	60	0	G			19884026	-1	tier1	-	no_errors	ENST00000537135	ensembl	human	known	74_37	missense	51.16	21	22	SNP	1.000	T	T	19884026	G	T	19884026	3	4	58	1	0	0	0	0	1	0	0	0	6752	991	35	3	1081	3	GPRC5B	16	19884026	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2591794	19884026	70470727	1727	16110											
UMOD	7369	genome.wustl.edu	37	chr16	20360037	20360037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccgcgcaggtccgtgtCgcaggcgtagccctccccgt	4	6	13	18	6	0	0	0	0	0	0	3	0	2	0	6	2	2	3	6	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:20360037C>T	ENST00000570689.1	-	3	732	c.586G>A	c.(586-588)Gac>Aac	p.D196N	UMOD_ENST00000396134.2_Missense_Mutation_p.D229N|UMOD_ENST00000396138.4_Missense_Mutation_p.D245N|UMOD_ENST00000424589.1_Missense_Mutation_p.D229N|UMOD_ENST00000396142.2_Missense_Mutation_p.D196N|UMOD_ENST00000302509.4_Missense_Mutation_p.D196N			P07911	UROM_HUMAN	uromodulin	196					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGTCCGTGTCGCAGGCGTAG	0.736																																																	0													7	7	7					16																	20360037		2145	4179	6324	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"Tamm-Horsfall glycoprotein", "uromucoid"	191845	"uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.586G>A	16.37:g.20360037C>T	ENSP00000460548:p.Asp196Asn		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.D229N	ENST00000570689.1	37	c.685	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	c	22.2	4.262159	0.80358	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3	4.82	4.82	0.62117	.	0.000000	0.53938	D	0.000041	D	0.99566	0.9844	M	0.90425	3.115	0.41946	D	0.990631	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.99986	1.3237	10	0.07990	T	0.79	-47.6583	15.4234	0.75031	0.0:1.0:0.0:0.0	.	229;196	E9PEA4;P07911	.;UROM_HUMAN	N	196;229;229;196;174;196	ENSP00000379438:D229N;ENSP00000416346:D229N;ENSP00000306279:D196N;ENSP00000379446:D196N	ENSP00000306279:D196N	D	-	1	0	UMOD	20267538	1.000000	0.71417	0.920000	0.36463	0.054000	0.15201	5.200000	0.65158	2.480000	0.83734	0.556000	0.70494	GAC	UMOD	-	NULL	ENSG00000169344		0.736	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0	12	0	C			20360037	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.998	T	T	20360037	C	T	20360037	3	4	58	1	0	0	0	0	1	0	0	0	17028	884	31	1	1372	1	UMOD	16	20360037	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	476011	20360037	69994716	1728	16111											
DNAH3	55567	genome.wustl.edu	37	chr16	20952745	20952745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaatctgatgagctcctGccttaggacggtattcatgg	8	13	12	8	1	2	3	1	3	1	0	3	4	3	4	2	3	2	3	2	3	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:20952745G>T	ENST00000261383.3	-	59	11631	c.11632C>A	c.(11632-11634)Cag>Aag	p.Q3878K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3878					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGAGCTCCTGCCTTAGGACG	0.493																																																	0													331	318	322					16																	20952745		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11632C>A	16.37:g.20952745G>T	ENSP00000261383:p.Gln3878Lys		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.Q3878K	ENST00000261383.3	37	c.11632	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.537177	0.96460	.	.	ENSG00000158486	ENST00000261383	T	0.11712	2.75	5.79	5.79	0.91817	Dynein heavy chain (1);	0.073936	0.53938	D	0.000043	T	0.58293	0.2112	H	0.99659	4.685	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.78593	-0.2144	10	0.87932	D	0	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	3878	Q8TD57	DYH3_HUMAN	K	3878	ENSP00000261383:Q3878K	ENSP00000261383:Q3878K	Q	-	1	0	DNAH3	20860246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.746000	0.94184	0.655000	0.94253	CAG	DNAH3	-	pfam_Dynein_heavy_dom	ENSG00000158486		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	72	0	G	NM_017539		20952745	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	20952745	G	T	20952745	3	4	58	1	0	0	0	0	1	0	0	0	4617	1328	46	3	733	3	DNAH3	16	20952745	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	592708	20952745	69402008	1729	16112											
UQCRC2	7385	genome.wustl.edu	37	chr16	21980007	21980007	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggctttgattggacttgGtaagtttagagtattgcctg	9	16	12	4	0	0	2	0	1	0	1	0	3	0	3	1	3	1	4	1	3	4	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:21980007G>T	ENST00000268379.4	+	8	1434		c.e8+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		ATTGGACTTGGTAAGTTTAGA	0.343																																					Colon(123;450 1645 12841 25393 45623)												0													202	187	192					16																	21980007		2198	4300	6498	SO:0001630	splice_region_variant	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.670+1G>T	16.37:g.21980007G>T			B3KSN4|Q9BQ05	Splice_Site	SNP	-	e8+1	ENST00000268379.4	37	c.670+1	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273940	0.80580	.	.	ENSG00000140740	ENST00000268379	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5936	0.88004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UQCRC2	21887508	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.862000	0.92283	2.557000	0.86248	0.585000	0.79938	.	UQCRC2	-	-	ENSG00000140740		0.343	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	-	0	87	0	G	NM_003366	Intron	21980007	1	tier1	-	no_errors	ENST00000268379	ensembl	human	known	74_37	splice_site	5.41	105	6	SNP	1.000	T	T	21980007	G	T	21980007	5	4	58	1	0	0	0	0	0	0	1	0	17069	1275	44	3	701	3	UQCRC2	16	21980007	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1027262	21980007	68374746	1730	16113											
PDZD9	255762	genome.wustl.edu	37	chr16	21995730	21995730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatccagtatggagaagggGccctcacttctttcttgtcg	7	14	10	10	1	3	1	1	0	2	1	5	2	4	1	2	3	0	1	2	3	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:21995730G>T	ENST00000424898.2	-	4	715	c.653C>A	c.(652-654)gCc>gAc	p.A218D	PDZD9_ENST00000286143.6_Missense_Mutation_p.A156D|PDZD9_ENST00000537222.2_Missense_Mutation_p.A158D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	218								p.A156D(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGGAGAAGGGGCCCTCACTTC	0.433																																																	1	Substitution - Missense(1)	endometrium(1)											253	236	242					16																	21995730		2198	4300	6498	SO:0001583	missense	0			BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 65"	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.653C>A	16.37:g.21995730G>T	ENSP00000400514:p.Ala218Asp		F5GWW8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A218D	ENST00000424898.2	37	c.653		16	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071595	0.55646	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.54675	0.56	5.43	5.43	0.79202	.	0.210126	0.33477	N	0.004878	T	0.68888	0.3050	M	0.66939	2.045	0.29566	N	0.850262	D	0.67145	0.996	D	0.65573	0.936	T	0.68580	-0.5371	10	0.72032	D	0.01	-8.0459	14.7347	0.69406	0.0:0.0:1.0:0.0	.	156	Q8IXQ8-2	.	D	218;158;156	ENSP00000400514:A218D	ENSP00000286143:A156D	A	-	2	0	PDZD9	21903231	0.976000	0.34144	0.659000	0.29680	0.207000	0.24258	2.649000	0.46656	2.542000	0.85734	0.563000	0.77884	GCC	PDZD9	-	NULL	ENSG00000155714		0.433	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PDZD9	HGNC	protein_coding	OTTHUMT00000381652.1		0	121	0	G	NM_173806		21995730	-1			no_errors	ENST00000424898	ensembl	human	known	74_37	missense	5.93	126	8	SNP	0.669	T	T	21995730	G	T	21995730	3	4	58	1	0	0	0	0	1	0	0	0	11745	1203	42	3	145	3	PDZD9	16	21995730	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	15723	21995730	68359023	1731	16114											
USP31	57478	genome.wustl.edu	37	chr16	23085053	23085053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacctcacctgccaccgaGctgttggctgaccatgacgg	7	8	12	14	2	1	2	1	2	0	0	1	4	1	3	5	3	2	3	5	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:23085053G>T	ENST00000219689.7	-	14	2324	c.2325C>A	c.(2323-2325)agC>agA	p.S775R	USP31_ENST00000567975.1_5'Flank	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	739	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCCACCGAGCTGTTGGCTG	0.532																																																	0													87	77	81					16																	23085053		2197	4300	6497	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2325C>A	16.37:g.23085053G>T	ENSP00000219689:p.Ser775Arg		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S775R	ENST00000219689.7	37	c.2325	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995102	0.74703	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10573	2.86	5.91	4.96	0.65561	.	0.166986	0.51477	D	0.000097	T	0.31638	0.0803	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.99	T	0.04255	-1.0965	10	0.72032	D	0.01	-15.437	11.906	0.52713	0.1429:0.0:0.8571:0.0	.	78;775	Q70CQ4-2;Q70CQ4	.;UBP31_HUMAN	R	775;78	ENSP00000219689:S775R	ENSP00000219689:S775R	S	-	3	2	USP31	22992554	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.180000	0.50895	1.503000	0.48686	0.655000	0.94253	AGC	USP31	-	NULL	ENSG00000103404		0.532	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	-	0	33	0	G	NM_020718		23085053	-1	tier1	-	no_errors	ENST00000219689	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	23085053	G	T	23085053	3	4	58	1	0	0	0	0	1	0	0	0	17111	962	34	3	1745	3	USP31	16	23085053	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1089323	23085053	67269700	1732	16115											
RBBP6	5930	genome.wustl.edu	37	chr16	24578711	24578711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctcctgccaatttatcaAcaccttgggtatcatcagga	11	11	7	12	0	3	0	3	0	0	0	4	1	4	1	3	2	3	2	3	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:24578711A>G	ENST00000319715.4	+	15	2269	c.1837A>G	c.(1837-1839)Aca>Gca	p.T613A	RBBP6_ENST00000348022.2_Missense_Mutation_p.T613A|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	613					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAATTTATCAACACCTTGGGT	0.517																																																	0													208	213	211					16																	24578711		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1837A>G	16.37:g.24578711A>G	ENSP00000317872:p.Thr613Ala		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.T613A	ENST00000319715.4	37	c.1837	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	A	8.825	0.938418	0.18206	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.13307	2.6;2.6	5.9	1.19	0.21007	.	0.245191	0.32753	N	0.005690	T	0.05044	0.0135	N	0.11560	0.145	0.25274	N	0.989495	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.43410	-0.9393	10	0.07990	T	0.79	-4.4632	5.8152	0.18488	0.5561:0.0:0.3212:0.1227	.	613;613	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	A	613	ENSP00000317872:T613A;ENSP00000316291:T613A	ENSP00000317872:T613A	T	+	1	0	RBBP6	24486212	0.946000	0.32159	0.923000	0.36655	0.965000	0.64279	1.051000	0.30417	-0.067000	0.12976	0.460000	0.39030	ACA	RBBP6	-	NULL	ENSG00000122257		0.517	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0	46	0	A	NM_006910		24578711	1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	40.00	24	16	SNP	0.406	G	G	24578711	A	G	24578711	3	3	58	1	0	0	0	0	1	0	0	0	13148	43	2	4	1949	4	RBBP6	16	24578711	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1493658	24578711	65776042	1733	16116											
TNRC6A	27327	genome.wustl.edu	37	chr16	24834982	24834982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaactgtggagaccttcacGgcacttcactctgggggacc	8	9	11	13	1	3	1	2	0	1	1	3	3	3	2	2	4	1	1	2	4	1	3	rs150714754	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:24834982G>T	ENST00000395799.3	+	25	5872	c.5743G>T	c.(5743-5745)Ggc>Tgc	p.G1915C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.G393C|TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1866C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1915	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGACCTTCACGGCACTTCACT	0.597																																																	0													103	104	103					16																	24834982		2197	4300	6497	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5743G>T	16.37:g.24834982G>T	ENSP00000379144:p.Gly1915Cys		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G1915C	ENST00000395799.3	37	c.5743	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.11|15.11	2.734763|2.734763	0.48939|0.48939	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.15487|.	2.48;2.42|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.106621|.	0.64402|.	D|.	0.000004|.	T|T	0.74275|0.74275	0.3695|0.3695	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79784|.	0.993;0.989|.	T|T	0.71331|0.71331	-0.4625|-0.4625	10|5	0.72032|.	D|.	0.01|.	-5.5246|-5.5246	19.7099|19.7099	0.96094|0.96094	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1866;1915|.	Q8NDV7-6;Q8NDV7|.	.;TNR6A_HUMAN|.	C|L	1866;1915;393|805	ENSP00000326900:G1866C;ENSP00000379144:G1915C|.	ENSP00000326900:G1866C|.	G|R	+|+	1|2	0|0	TNRC6A|TNRC6A	24742483|24742483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.143000|5.143000	0.64826|0.64826	2.638000|2.638000	0.89438|0.89438	0.651000|0.651000	0.88453|0.88453	GGC|CGG	TNRC6A	-	NULL	ENSG00000090905		0.597	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	-	0	60	0	G	NM_020847		24834982	1	tier1	-	no_errors	ENST00000395799	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	24834982	G	T	24834982	3	4	58	1	0	0	0	0	1	0	0	0	16387	1116	39	2	5841	2	TNRC6A	16	24834982	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	256271	24834982	65519771	1734	16117											
XPO6	23214	genome.wustl.edu	37	chr16	28164033	28164033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactccaccacagggaactGggagtaagactcgattcttc	13	8	9	11	1	1	1	0	0	1	1	4	4	2	3	2	2	2	1	2	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:28164033G>T	ENST00000304658.5	-	8	1671	c.1171C>A	c.(1171-1173)Cag>Aag	p.Q391K	XPO6_ENST00000565698.1_Missense_Mutation_p.Q377K|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	391					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAGGGAACTGGGAGTAAGAC	0.403																																																	0													84	76	78					16																	28164033		1859	4099	5958	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1171C>A	16.37:g.28164033G>T	ENSP00000302790:p.Gln391Lys		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q391K	ENST00000304658.5	37	c.1171	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656889	0.29425	.	.	ENSG00000169180	ENST00000304658	T	0.65916	-0.18	5.71	4.73	0.59995	Armadillo-like helical (1);Armadillo-type fold (1);	0.056260	0.64402	D	0.000001	T	0.50000	0.1590	L	0.43152	1.355	0.80722	D	1	B;P	0.39216	0.192;0.664	B;B	0.32928	0.046;0.155	T	0.45862	-0.9232	10	0.20046	T	0.44	-9.2129	14.278	0.66194	0.0:0.15:0.85:0.0	.	391;391	B7ZM10;Q96QU8	.;XPO6_HUMAN	K	391	ENSP00000302790:Q391K	ENSP00000302790:Q391K	Q	-	1	0	XPO6	28071534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.433000	0.73404	1.369000	0.46134	0.655000	0.94253	CAG	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.403	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	-	0	30	0	G	XM_055195		28164033	-1	tier1	-	no_errors	ENST00000304658	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	28164033	G	T	28164033	3	4	58	1	0	0	0	0	1	0	0	0	17497	1357	47	3	2274	3	XPO6	16	28164033	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3329051	28164033	62190720	1735	16118											
APOB48R	55911	genome.wustl.edu	37	chr16	28507636	28507636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgaggtgagccctttccCcaaacagccccaggtcctgg	7	7	12	15	0	0	2	0	2	0	0	2	2	2	2	6	4	3	1	6	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:28507636C>T	ENST00000431282.1	+	3	1257	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	APOBR_ENST00000564831.1_Missense_Mutation_p.P425L|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.P416L|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	416	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGCCCTTTCCCCAAACAGCCC	0.617																																																	0													39	44	42					16																	28507636		1993	4165	6158	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1247C>T	16.37:g.28507636C>T	ENSP00000416094:p.Pro416Leu		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.P425L	ENST00000431282.1	37	c.1274		16	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346626	0.41599	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.75367	-0.93;-0.93	3.7	-5.76	0.02376	.	.	.	.	.	T	0.53254	0.1785	L	0.32530	0.975	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.38067	-0.9678	9	0.46703	T	0.11	4.564	0.5965	0.00737	0.3947:0.1831:0.1195:0.3027	.	416	Q9NS13	.	L	416	ENSP00000327669:P416L;ENSP00000416094:P416L	ENSP00000327669:P416L	P	+	2	0	APOBR	28415137	0.000000	0.05858	0.000000	0.03702	0.947000	0.59692	-0.059000	0.11731	-1.350000	0.02199	0.509000	0.49947	CCC	APOBR	-	NULL	ENSG00000184730		0.617	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		-	0	29	0	C	NM_182804		28507636	1	tier1	-	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.000	T	T	28507636	C	T	28507636	3	4	58	1	0	0	0	0	1	0	0	0	786	623	22	3	1257	3	APOB48R	16	28507636	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	343603	28507636	61847117	1736	16119											
ATP2A1	487	genome.wustl.edu	37	chr16	28913313	28913313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgacaacttctccaccatcGtagctgctgtggaggagggc	9	8	12	12	2	1	0	0	0	1	0	3	3	1	2	2	3	3	3	2	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:28913313G>A	ENST00000357084.3	+	16	2497	c.2230G>A	c.(2230-2232)Gta>Ata	p.V744I	ATP2A1_ENST00000395503.4_Missense_Mutation_p.V744I|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V619I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	744					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTCCACCATCGTAGCTGCTGT	0.577																																																	0													138	100	113					16																	28913313		2197	4300	6497	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2230G>A	16.37:g.28913313G>A	ENSP00000349595:p.Val744Ile		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.V744I	ENST00000357084.3	37	c.2230	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503749	0.85176	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.97620	-4.46;-4.46;-4.46	5.12	4.16	0.48862	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.69185	2.1	0.58432	D	0.999992	D;P;P	0.62365	0.991;0.927;0.9	D;P;P	0.63957	0.92;0.531;0.654	D	0.97704	1.0186	10	0.66056	D	0.02	.	12.7116	0.57092	0.0822:0.0:0.9178:0.0	.	619;744;744	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	I	744;744;781;619	ENSP00000349595:V744I;ENSP00000378879:V744I;ENSP00000443101:V619I	ENSP00000349595:V744I	V	+	1	0	ATP2A1	28820814	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.761000	0.98940	1.148000	0.42385	0.561000	0.74099	GTA	ATP2A1	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000196296		0.577	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	-	0	89	0	G	NM_004320		28913313	1	tier1	-	no_errors	ENST00000357084	ensembl	human	known	74_37	missense	45.45	35	30	SNP	1.000	A	A	28913313	G	A	28913313	3	1	58	1	0	0	0	0	1	0	0	0	1137	1145	40	1	2292	1	ATP2A1	16	28913313	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	405677	28913313	61441440	1737	16120											
PRRT2	112476	genome.wustl.edu	37	chr16	29825042	29825042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgagtgctgcagcagctgGttgaggaggatcgaatgaga	10	7	16	8	2	0	2	0	2	0	1	1	7	0	4	1	3	4	5	1	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29825042G>A	ENST00000358758.7	+	2	950	c.667G>A	c.(667-669)Gtt>Att	p.V223I	PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.V223I|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.V223I|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	223					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCAGCAGCTGGTTGAGGAGGA	0.647																																																	0													16	17	17					16																	29825042		2196	4298	6494	SO:0001583	missense	0			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.667G>A	16.37:g.29825042G>A	ENSP00000351608:p.Val223Ile		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.V223I	ENST00000358758.7	37	c.667	CCDS10654.1	16	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726411	0.48833	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.71934	-0.61;0.36	3.9	3.9	0.45041	.	0.000000	0.43260	D	0.000591	T	0.64768	0.2628	N	0.24115	0.695	0.26792	N	0.969389	P;P;P	0.49783	0.928;0.787;0.865	P;B;P	0.53102	0.718;0.446;0.648	T	0.57423	-0.7814	10	0.42905	T	0.14	-6.532	9.782	0.40653	0.0:0.2106:0.7894:0.0	.	223;223;223	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	I	223	ENSP00000351608:V223I;ENSP00000300797:V223I	ENSP00000300797:V223I	V	+	1	0	PRRT2	29732543	0.986000	0.35501	1.000000	0.80357	0.981000	0.71138	2.304000	0.43655	2.190000	0.69967	0.563000	0.77884	GTT	PRRT2	-	NULL	ENSG00000167371		0.647	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	HGNC	protein_coding	OTTHUMT00000255161.3	-	0	46	0	G	NM_145239		29825042	1	tier1	-	no_errors	ENST00000567659	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	A	A	29825042	G	A	29825042	3	1	58	1	0	0	0	0	1	0	0	0	12652	1261	44	3	669	3	PRRT2	16	29825042	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	911729	29825042	60529711	1738	16121											
MVP	9961	genome.wustl.edu	37	chr16	29855904	29855904	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgatgcctgcaaagccatCgcatcccgggtgcggggggc	6	6	17	12	3	0	1	0	1	0	0	2	1	1	1	3	5	4	2	3	5	1	0	rs372666702		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29855904C>T	ENST00000357402.5	+	11	1863	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	MVP_ENST00000395353.1_Silent_p.I575I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	575					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAAAGCCATCGCATCCCGGG	0.552																																																	0								T	,	1,4393	2.1+/-5.4	0,1,2196	86	81	83		1725,1725	-7.8	0.3	16		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MVP	NM_005115.4,NM_017458.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	575/894,575/894	29855904	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1725C>T	16.37:g.29855904C>T			Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.I575	ENST00000357402.5	37	c.1725	CCDS10656.1	16																																																																																			MVP	-	pfam_MVP_shoulder	ENSG00000013364		0.552	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0	52	0	C	NM_005115		29855904	1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	silent	30.61	34	15	SNP	0.770	T	T	29855904	C	T	29855904	2	4	58	1	0	0	0	0	0	0	0	1	10034	874	31	1		1	MVP	16	29855904	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	30862	29855904	60498849	1739	16122											
TAOK2	9344	genome.wustl.edu	37	chr16	29989217	29989217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatggcagctttggagccGtatactttgtgagttgggtc	6	13	14	8	1	0	1	0	1	0	0	1	2	0	2	2	3	3	4	2	3	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29989217G>A	ENST00000308893.4	+	2	1167	c.124G>A	c.(124-126)Gta>Ata	p.V42I	TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I|TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTTGGAGCCGTATACTTTGT	0.532																																																	0													80	87	84					16																	29989217		2197	4300	6497	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.124G>A	16.37:g.29989217G>A	ENSP00000310094:p.Val42Ile		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V42I	ENST00000308893.4	37	c.124	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153353	0.78114	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.59906	0.23;0.23;0.23	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.62365	0.991;0.966;0.972;0.986	P;P;P;P	0.59889	0.865;0.527;0.523;0.742	D	0.84765	0.0764	9	.	.	.	.	18.1978	0.89829	0.0:0.0:1.0:0.0	.	226;42;42;42	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	I	42	ENSP00000310094:V42I;ENSP00000440336:V42I;ENSP00000279394:V42I	.	V	+	1	0	TAOK2	29896718	1.000000	0.71417	0.996000	0.52242	0.565000	0.35776	9.349000	0.97066	2.668000	0.90789	0.655000	0.94253	GTA	TAOK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000149930		0.532	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	-	0	64	0	G	NM_016151		29989217	1	tier1	-	no_errors	ENST00000308893	ensembl	human	known	74_37	missense	41.27	37	26	SNP	1.000	A	A	29989217	G	A	29989217	3	1	58	1	0	0	0	0	1	0	0	0	15595	1145	40	1	126	1	TAOK2	16	29989217	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	133313	29989217	60365536	1740	16123											
TAOK2	9344	genome.wustl.edu	37	chr16	29997584	29997584	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcatttcttctgcctcAggacctgaacaagaagcaga	11	9	8	13	0	3	3	1	1	2	2	3	4	3	4	3	1	4	2	3	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29997584A>G	ENST00000308893.4	+	16	3035		c.e16-1		TAOK2_ENST00000543033.1_Splice_Site|TAOK2_ENST00000279394.3_Splice_Site|TAOK2_ENST00000416441.2_Splice_Site	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTCTGCCTCAGGACCTGAAC	0.627																																																	0													78	78	78					16																	29997584		2197	4300	6497	SO:0001630	splice_region_variant	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1993-1A>G	16.37:g.29997584A>G			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Splice_Site	SNP	-	e15-2	ENST00000308893.4	37	c.1993-2	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646605	0.47258	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1735	0.65525	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAOK2	29905085	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.308000	0.96247	2.013000	0.59113	0.456000	0.33151	.	TAOK2	-	-	ENSG00000149930		0.627	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	-	0	72	0	A	NM_016151	Intron	29997584	1	tier1	-	no_errors	ENST00000308893	ensembl	human	known	74_37	splice_site	32.61	31	15	SNP	1.000	G	G	29997584	A	G	29997584	5	3	58	1	0	0	0	0	0	0	1	0	15595	202	7	4	2049	4	TAOK2	16	29997584	Splice_Site	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	8367	29997584	60357169	1741	16124											
DOC2A	8448	genome.wustl.edu	37	chr16	30021446	30021446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgggggaagtagtcaGagatctggcggatgggccgg	7	6	19	9	3	2	1	1	0	1	1	3	4	3	3	3	6	0	1	3	6	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30021446G>T	ENST00000350119.4	-	2	288	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	DOC2A_ENST00000564979.1_Missense_Mutation_p.S33Y|DOC2A_ENST00000564944.1_Missense_Mutation_p.S33Y|DOC2A_ENST00000567824.1_5'Flank	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	33	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GAAGTAGTCAGAGATCTGGCG	0.716																																																	0													29	33	32					16																	30021446		2185	4282	6467	SO:0001583	missense	0			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.98C>A	16.37:g.30021446G>T	ENSP00000340017:p.Ser33Tyr		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.S33Y	ENST00000350119.4	37	c.98	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834828	0.91036	.	.	ENSG00000149927	ENST00000350119	D	0.92595	-3.07	4.28	4.28	0.50868	.	0.000000	0.39146	N	0.001458	D	0.92873	0.7733	L	0.29908	0.895	0.52501	D	0.999958	D	0.76494	0.999	D	0.81914	0.995	D	0.93799	0.7099	10	0.87932	D	0	.	14.273	0.66162	0.0:0.0:1.0:0.0	.	33	Q14183	DOC2A_HUMAN	Y	33	ENSP00000340017:S33Y	ENSP00000340017:S33Y	S	-	2	0	DOC2A	29928947	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	8.516000	0.90552	2.223000	0.72356	0.561000	0.74099	TCT	DOC2A	-	pirsf_Doc2	ENSG00000149927		0.716	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	-	0	48	0	G	NM_003586		30021446	-1	tier1	-	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T	T	30021446	G	T	30021446	3	4	58	1	0	0	0	0	1	0	0	0	4697	942	33	3	1144	3	DOC2A	16	30021446	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	23862	30021446	60333307	1742	16125											
SEPHS2	22928	genome.wustl.edu	37	chr16	30455931	30455931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggcagacaaatcagtaatCccccagaggtttcagctgag	12	9	10	10	0	2	3	2	1	0	2	3	3	3	3	2	2	1	4	2	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30455931C>T	ENST00000478753.2	-	1	1571	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	SEPHS2_ENST00000542752.1_Missense_Mutation_p.G316E|SEPHS2_ENST00000500504.2_Missense_Mutation_p.G373E			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	373					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AATCAGTAATCCCCCAGAGGT	0.498																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													74	74	74					16																	30455931		1876	4104	5980	SO:0001583	missense	0			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1118G>A	16.37:g.30455931C>T	ENSP00000418669:p.Gly373Glu		Q9BUQ2	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.G316E	ENST00000478753.2	37	c.947		16	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903855	0.72754	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.54071	0.59;0.59;0.59	5.15	5.15	0.70609	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87774	0.2607	10	0.87932	D	0	-7.7189	14.4904	0.67647	0.0:1.0:0.0:0.0	.	373;316	Q99611;F5H8F9	SPS2_HUMAN;.	E	373;316;324;373	ENSP00000418669:G373E;ENSP00000443601:G316E;ENSP00000426234:G373E	ENSP00000390233:G324E	G	-	2	0	SEPHS2	30363432	0.864000	0.29904	0.925000	0.36789	0.775000	0.43874	1.563000	0.36364	2.583000	0.87209	0.561000	0.74099	GGA	SEPHS2	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD	ENSG00000179918		0.498	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	-	0	44	0	C	NM_012248		30455931	-1	tier1	-	no_errors	ENST00000542752	ensembl	human	known	74_37	missense	46.43	30	26	SNP	1.000	T	T	30455931	C	T	30455931	3	4	58	1	0	0	0	0	1	0	0	0	14100	855	30	3	232	3	SEPHS2	16	30455931	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	434485	30455931	59898822	1743	16126											
PRR14	78994	genome.wustl.edu	37	chr16	30664143	30664143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgccaccccggcaggcCgggtggtcctcgcaggccag	4	4	15	18	4	0	0	0	0	0	0	3	0	1	0	7	5	0	2	7	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30664143C>T	ENST00000542965.2	+	3	750	c.294C>T	c.(292-294)gcC>gcT	p.A98A	PRR14_ENST00000300835.4_Silent_p.A98A			Q9BWN1	PRR14_HUMAN	proline rich 14	98	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCGGCAGGCCGGGTGGTCCT	0.647																																																	0													31	33	32					16																	30664143		2196	4298	6494	SO:0001819	synonymous_variant	0			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.294C>T	16.37:g.30664143C>T			Q8WTX2	Silent	SNP	NULL	p.A98	ENST00000542965.2	37	c.294	CCDS10687.1	16																																																																																			PRR14	-	NULL	ENSG00000156858		0.647	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	-	0	115	0	C	NM_024031		30664143	1	tier1	-	no_errors	ENST00000300835	ensembl	human	known	74_37	silent	35.06	50	27	SNP	0.000	T	T	30664143	C	T	30664143	2	4	58	1	0	0	0	0	0	0	0	1	12628	639	23	1		1	PRR14	16	30664143	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	208212	30664143	59690610	1744	16127											
FBRS	64319	genome.wustl.edu	37	chr16	30680769	30680769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtggccgctgcccgcctcTacggtctggaacctgctcac	4	8	11	18	4	3	0	1	0	2	0	3	1	3	1	5	3	4	2	5	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30680769T>C	ENST00000287468.5	+	12	1449	c.1186T>C	c.(1186-1188)Tac>Cac	p.Y396H	FBRS_ENST00000568722.1_Missense_Mutation_p.Y308H|FBRS_ENST00000356166.6_Missense_Mutation_p.Y916H|FBRS_ENST00000395073.2_Missense_Mutation_p.Y308H	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	396	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			TGCCCGCCTCTACGGTCTGGA	0.682																																																	0													59	74	69					16																	30680769		2190	4291	6481	SO:0001583	missense	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"fibrosin 1"	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1186T>C	16.37:g.30680769T>C	ENSP00000287468:p.Tyr396His		B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.Y916H	ENST00000287468.5	37	c.2746		16	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681358	0.29872	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.37752	1.18	5.09	5.09	0.68999	.	0.184564	0.36134	N	0.002780	T	0.41581	0.1165	L	0.29908	0.895	0.33966	D	0.6462	D	0.64830	0.994	P	0.59889	0.865	T	0.48736	-0.9009	10	0.22706	T	0.39	-2.482	13.9913	0.64369	0.0:0.0:0.0:1.0	.	396	Q9HAH7	FBRS_HUMAN	H	916;396;308	ENSP00000348489:Y916H	ENSP00000287468:Y396H	Y	+	1	0	FBRS	30588270	1.000000	0.71417	0.977000	0.42913	0.950000	0.60333	2.915000	0.48805	2.146000	0.66826	0.459000	0.35465	TAC	FBRS	-	NULL	ENSG00000156860		0.682	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		-	0	47	0	T	NM_022452		30680769	1	tier1	-	no_errors	ENST00000356166	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.994	C	C	30680769	T	C	30680769	3	2	58	1	0	0	0	0	1	0	0	0	5729	1522	53	4	1228	4	FBRS	16	30680769	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	16626	30680769	59673984	1745	16128											
PHKG2	5261	genome.wustl.edu	37	chr16	30767570	30767570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggatgaaacccacccAggctatggcaaggaggtcga	12	6	12	11	1	0	1	0	1	0	0	2	4	1	3	3	5	1	2	3	5	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30767570A>G	ENST00000563588.1	+	7	863	c.624A>G	c.(622-624)ccA>ccG	p.P208P	PHKG2_ENST00000328273.7_Silent_p.P208P|PHKG2_ENST00000424889.3_Silent_p.P208P	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AAACCCACCCAGGCTATGGCA	0.597																																																	0													169	156	160					16																	30767570		2197	4300	6497	SO:0001819	synonymous_variant	0			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.624A>G	16.37:g.30767570A>G			A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P208	ENST00000563588.1	37	c.624	CCDS10690.1	16																																																																																			PHKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000156873		0.597	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	-	0	95	0	A	NM_000294		30767570	1	tier1	-	no_errors	ENST00000563588	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.601	G	G	30767570	A	G	30767570	2	3	58	1	0	0	0	0	0	0	0	1	11886	175	7	4		4	PHKG2	16	30767570	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	86801	30767570	59587183	1746	16129											
ORAI3	93129	genome.wustl.edu	37	chr16	30965124	30965124	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctacaagcaggaactaGaggaactgaatcgcctgcag	14	5	11	11	2	0	2	0	1	0	1	1	4	0	4	2	2	5	3	2	2	6	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30965124G>T	ENST00000318663.4	+	2	1071	c.847G>T	c.(847-849)Gag>Tag	p.E283*	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	283					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						GCAGGAACTAGAGGAACTGAA	0.592											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33	35	34					16																	30965124		2197	4299	6496	SO:0001587	stop_gained	0			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"ORAI calcium release-activated calcium modulators"	28185	protein-coding gene	gene with protein product		610930	"transmembrane protein 142C"	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.847G>T	16.37:g.30965124G>T	ENSP00000322249:p.Glu283*	821	Q96BI8	Nonsense_Mutation	SNP	pfam_CRAC_channel	p.E283*	ENST00000318663.4	37	c.847	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	g	32	5.118120	0.94385	.	.	ENSG00000175938	ENST00000318663	.	.	.	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.7524	11.9254	0.52817	0.0808:0.0:0.9192:0.0	.	.	.	.	X	283	.	ENSP00000322249:E283X	E	+	1	0	ORAI3	30872625	0.999000	0.42202	0.994000	0.49952	0.846000	0.48090	2.905000	0.48727	2.673000	0.90976	0.645000	0.84053	GAG	ORAI3	-	pfam_CRAC_channel	ENSG00000175938		0.592	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20	-	0	41	0	G	NM_152288		30965124	1	tier1	-	no_errors	ENST00000318663	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	1.000	T	T	30965124	G	T	30965124	4	4	58	1	0	0	0	0	0	1	0	0	11298	943	33	3	853	3	ORAI3	16	30965124	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	197554	30965124	59389629	1747	16130											
ZNF646	9726	genome.wustl.edu	37	chr16	31091609	31091609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaccaccggcgcagccacGagacgggccagtacagctgc	10	3	13	15	4	0	2	0	1	0	1	0	3	0	2	4	2	5	3	4	2	2	1	rs374257528		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31091609G>A	ENST00000394979.2	+	1	4387	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1322K			O15015	ZN646_HUMAN	zinc finger protein 646	1322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCGCAGCCACGAGACGGGCCA	0.682																																																	0													38	35	36					16																	31091609		2193	4295	6488	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3964G>A	16.37:g.31091609G>A	ENSP00000378429:p.Glu1322Lys		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1322K	ENST00000394979.2	37	c.3964		16	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754043	0.49362	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.28069	1.63;1.63	5.13	3.13	0.36017	.	.	.	.	.	T	0.16514	0.0397	N	0.25245	0.725	0.20563	N	0.999888	B	0.28971	0.229	B	0.20767	0.031	T	0.17776	-1.0358	9	0.31617	T	0.26	-13.0732	4.2034	0.10478	0.255:0.1755:0.5695:0.0	.	1322	O15015-2	.	K	1322	ENSP00000300850:E1322K;ENSP00000378429:E1322K	ENSP00000300850:E1322K	E	+	1	0	ZNF646	30999110	0.001000	0.12720	0.576000	0.28549	0.992000	0.81027	0.732000	0.26072	0.719000	0.32188	0.561000	0.74099	GAG	ZNF646	-	NULL	ENSG00000167395		0.682	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	28	0	G	NM_014699		31091609	1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.514	A	A	31091609	G	A	31091609	3	1	58	1	0	0	0	0	1	0	0	0	18110	1059	37	1	3966	1	ZNF646	16	31091609	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	126485	31091609	59263144	1748	16131											
PRSS36	146547	genome.wustl.edu	37	chr16	31154684	31154684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaagcagctggcaggtGccaagacccagctttcagac	12	5	11	13	0	1	3	1	0	0	3	1	3	1	3	3	2	4	4	3	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31154684G>A	ENST00000268281.4	-	8	1137	c.1079C>T	c.(1078-1080)gCa>gTa	p.A360V	PRSS36_ENST00000418068.2_Missense_Mutation_p.A360V|PRSS36_ENST00000569305.1_Missense_Mutation_p.A360V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	360	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCTGGCAGGTGCCAAGACCCA	0.632																																																	0													44	52	49					16																	31154684		2197	4300	6497	SO:0001583	missense	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1079C>T	16.37:g.31154684G>A	ENSP00000268281:p.Ala360Val		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.A360V	ENST00000268281.4	37	c.1079	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737185	0.49045	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	T;T	0.29142	1.58;1.58	4.26	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.22781	0.0550	L	0.27053	0.805	0.28234	N	0.92597	B;P;P	0.36199	0.025;0.543;0.543	B;B;B	0.39660	0.022;0.306;0.306	T	0.15378	-1.0439	9	0.56958	D	0.05	.	6.8248	0.23876	0.2204:0.0:0.7796:0.0	.	360;360;360	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	V	360	ENSP00000268281:A360V;ENSP00000407160:A360V	ENSP00000268281:A360V	A	-	2	0	PRSS36	31062185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.026000	0.41069	1.004000	0.39156	0.491000	0.48974	GCA	PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.632	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	-	0	81	0	G	NM_173502		31154684	-1	tier1	-	no_errors	ENST00000268281	ensembl	human	known	74_37	missense	47.17	28	25	SNP	0.992	A	A	31154684	G	A	31154684	3	1	58	1	0	0	0	0	1	0	0	0	12667	1319	46	3	1520	3	PRSS36	16	31154684	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	63075	31154684	59200069	1749	16132											
ITGAD	3681	genome.wustl.edu	37	chr16	31425890	31425890	+	Frame_Shift_Del	DEL	G	G	-																															cgaagaaaaaccctgggactGgggattcactgtgaaaccct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31425890delG	ENST00000389202.2	+	17	2164	c.2115delG	c.(2113-2115)ctgfs	p.L705fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	705					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCTGGGACTGGGGATTCACT	0.547																																																	0													187	211	203					16																	31425890		2197	4300	6497	SO:0001589	frameshift_variant	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2115delG	16.37:g.31425890delG	ENSP00000373854:p.Leu705fs		Q15575|Q15576	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.I707fs	ENST00000389202.2	37	c.2115	CCDS32438.1	16																																																																																			ITGAD	-	pfam_Integrin_alpha-2	ENSG00000156886		0.547	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1		0	71	0	G	NM_005353		31425890	1	tier1		no_errors	ENST00000389202	ensembl	human	known	74_37	frame_shift_del	31.15	42	19	DEL	0.803	-	-	31425890	G	-	31425890	7	5	58	1	0	1	0	1	0	0	0	0	7911	1335	47	0	2181	0	ITGAD	16	31425890	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	271206	31425890	58928863	1750	16133											
ARMC5	79798	genome.wustl.edu	37	chr16	31474229	31474229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagggtggaagcttccGgagcctcaggtgagtccctg	7	7	16	11	1	1	1	1	1	0	0	3	3	3	3	3	5	2	2	3	5	1	1	rs202056991		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31474229G>A	ENST00000563544.1	+	4	1907	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	ARMC5_ENST00000268314.4_Missense_Mutation_p.R454Q|ARMC5_ENST00000538189.1_Missense_Mutation_p.R486Q|ARMC5_ENST00000412665.2_Missense_Mutation_p.R98Q|ARMC5_ENST00000457010.2_Missense_Mutation_p.R454Q|ARMC5_ENST00000408912.3_Missense_Mutation_p.R549Q			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	454										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAAGCTTCCGGAGCCTCAGG	0.597																																																	0													8	9	9					16																	31474229		2041	4176	6217	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"Armadillo repeat containing"	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1361G>A	16.37:g.31474229G>A	ENSP00000456877:p.Arg454Gln		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.R549Q	ENST00000563544.1	37	c.1646	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	g	11.77	1.736871	0.30774	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.84	2.82	0.32997	.	0.368094	0.26560	N	0.023694	T	0.17746	0.0426	L	0.56769	1.78	0.24577	N	0.993891	B;B;B;B;B	0.25521	0.062;0.062;0.124;0.025;0.128	B;B;B;B;B	0.19946	0.008;0.008;0.017;0.008;0.027	T	0.24764	-1.0151	10	0.16896	T	0.51	-28.4729	8.6484	0.34020	0.0876:0.1522:0.7602:0.0	.	486;486;549;454;454	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	Q	549;486;454;454;98	ENSP00000386125:R549Q;ENSP00000443995:R486Q;ENSP00000268314:R454Q;ENSP00000399561:R454Q;ENSP00000400183:R98Q	ENSP00000268314:R454Q	R	+	2	0	ARMC5	31381730	1.000000	0.71417	0.990000	0.47175	0.814000	0.46013	2.427000	0.44740	0.433000	0.26313	0.457000	0.33378	CGG	ARMC5	-	NULL	ENSG00000140691		0.597	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	-	0	43	0	G	NM_024742		31474229	1	tier1	-	no_errors	ENST00000408912	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.960	A	A	31474229	G	A	31474229	3	1	58	1	0	0	0	0	1	0	0	0	955	1116	39	1	1371	1	ARMC5	16	31474229	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	48339	31474229	58880524	1751	16134											
TGFB1I1	7041	genome.wustl.edu	37	chr16	31488292	31488292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggataactacatctcggcGctcagcgcgctctggcaccc	7	8	10	16	4	3	0	1	0	2	0	4	1	3	1	1	3	3	3	1	3	2	2	rs550050905	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31488292G>A	ENST00000394863.3	+	10	1210	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	TGFB1I1_ENST00000394858.2_Silent_p.A343A|TGFB1I1_ENST00000567607.1_Silent_p.A343A|TGFB1I1_ENST00000361773.3_Silent_p.A343A	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	360	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						ACATCTCGGCGCTCAGCGCGC	0.721													G|||	2	0.000399361	0	0	5008	,	,		8089	0		0	False		,,,				2504	0.002																0													8	9	8					16																	31488292		2174	4246	6420	SO:0001819	synonymous_variant	0			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1080G>A	16.37:g.31488292G>A			B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.A360	ENST00000394863.3	37	c.1080	CCDS42156.1	16																																																																																			TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	ENSG00000140682		0.721	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	-	0	37	0	G			31488292	1	tier1	-	no_errors	ENST00000394863	ensembl	human	known	74_37	silent	52.00	12	13	SNP	0.941	A	A	31488292	G	A	31488292	2	1	58	1	0	0	0	0	0	0	0	1	15864	1074	38	1		1	TGFB1I1	16	31488292	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	14063	31488292	58866461	1752	16135											
MYLK3	91807	genome.wustl.edu	37	chr16	46746626	46746626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaactcataattgacgActtctggggccaggaactca	14	8	9	10	1	3	2	2	1	1	1	3	4	3	3	1	3	2	0	1	3	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:46746626A>G	ENST00000394809.4	-	10	2163	c.2048T>C	c.(2047-2049)gTc>gCc	p.V683A	MYLK3_ENST00000536476.1_Missense_Mutation_p.V342A|MYLK3_ENST00000562104.1_5'Flank	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAATTGACGACTTCTGGGGC	0.537																																																	0													97	83	88					16																	46746626		2203	4300	6503	SO:0001583	missense	0			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2048T>C	16.37:g.46746626A>G	ENSP00000378288:p.Val683Ala		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V683A	ENST00000394809.4	37	c.2048	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842002	0.91197	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.70516	-0.49;-0.49	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32518	N	0.005994	D	0.82499	0.5050	M	0.64260	1.97	0.80722	D	1	D	0.59767	0.986	D	0.76575	0.988	D	0.84211	0.0456	10	0.87932	D	0	.	16.2355	0.82371	1.0:0.0:0.0:0.0	.	683	Q32MK0	MYLK3_HUMAN	A	683;342	ENSP00000378288:V683A;ENSP00000439297:V342A	ENSP00000378288:V683A	V	-	2	0	MYLK3	45304127	1.000000	0.71417	0.946000	0.38457	0.870000	0.49936	9.273000	0.95719	2.238000	0.73509	0.533000	0.62120	GTC	MYLK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140795		0.537	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	-	0	40	0	A	NM_182493		46746626	-1	tier1	-	no_errors	ENST00000394809	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.999	G	G	46746626	A	G	46746626	3	3	58	1	0	0	0	0	1	0	0	0	10096	275	10	4	427	4	MYLK3	16	46746626	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	15258334	46746626	43608127	1753	16136											
ABCC11	85320	genome.wustl.edu	37	chr16	48264408	48264408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcatacttcccccacggtGggacagctgccctccctgga	7	8	9	17	1	1	0	1	0	0	0	3	2	3	2	4	3	3	1	4	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:48264408G>T	ENST00000394747.1	-	2	525	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	ABCC11_ENST00000394748.1_Missense_Mutation_p.P59Q|ABCC11_ENST00000356608.2_Missense_Mutation_p.P59Q|ABCC11_ENST00000353782.5_Missense_Mutation_p.P59Q|ABCC11_ENST00000537808.1_Missense_Mutation_p.P59Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	59					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCCCCACGGTGGGACAGCTGC	0.542																																																	0													69	63	65					16																	48264408		2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.176C>A	16.37:g.48264408G>T	ENSP00000378230:p.Pro59Gln		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P59Q	ENST00000394747.1	37	c.176	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970138	0.18659	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92099	-2.8;-2.71;-2.71;-2.71;-2.97	4.48	-5.49	0.02584	.	0.946702	0.08851	N	0.884437	T	0.79930	0.4531	L	0.29908	0.895	0.09310	N	1	B;B	0.29508	0.246;0.007	B;B	0.26614	0.071;0.004	T	0.69335	-0.5172	10	0.14252	T	0.57	8.0E-4	1.2088	0.01900	0.2945:0.2839:0.2826:0.139	.	59;59	Q96J66-2;Q96J66	.;ABCCB_HUMAN	Q	59	ENSP00000311326:P59Q;ENSP00000349017:P59Q;ENSP00000378231:P59Q;ENSP00000378230:P59Q;ENSP00000438530:P59Q	ENSP00000311326:P59Q	P	-	2	0	ABCC11	46821909	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.573000	0.05874	-1.668000	0.01471	-0.469000	0.05056	CCA	ABCC11	-	NULL	ENSG00000121270		0.542	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0	45	0	G	NM_032583		48264408	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.000	T	T	48264408	G	T	48264408	3	4	58	1	0	0	0	0	1	0	0	0	51	1348	47	3	4084	3	ABCC11	16	48264408	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1517782	48264408	42090345	1754	16137											
PAPD5	64282	genome.wustl.edu	37	chr16	50248153	50248153	+	Frame_Shift_Del	DEL	A	A	-																															tccagatatttggaagttttAaaactggactttatttacct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50248153delA	ENST00000561678.1	+	3	612	c.538delA	c.(538-540)aaafs	p.K180fs	PAPD5_ENST00000357464.3_Frame_Shift_Del_p.K168fs|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Frame_Shift_Del_p.K247fs			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	168					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TGGAAGTTTTAAAACTGGACT	0.313																																																	0													77	71	73					16																	50248153		1790	4068	5858	SO:0001589	frameshift_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.538delA	16.37:g.50248153delA	ENSP00000455837:p.Lys180fs		B4DV38|Q9NW67|Q9Y6C0	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.T248fs	ENST00000561678.1	37	c.739		16																																																																																			PAPD5	-	pfam_Nucleotidyltransferase	ENSG00000121274		0.313	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1		0	48	0	A	NM_022447		50248153	1	tier1		no_errors	ENST00000436909	ensembl	human	known	74_37	frame_shift_del	34.92	41	22	DEL	1.000	-	-	50248153	A	-	50248153	7	5	58	1	0	1	0	1	0	0	0	0	11464	363	13	0	753	0	PAPD5	16	50248153	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1983745	50248153	40106600	1755	16138											
PAPD5	64282	genome.wustl.edu	37	chr16	50257096	50257096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcttttagttacatcccagGgaagatgcttgcatccccaa	10	12	8	11	0	0	1	0	0	0	1	2	2	2	2	3	1	4	4	3	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50257096G>A	ENST00000561678.1	+	6	878	c.804G>A	c.(802-804)agG>agA	p.R268R	PAPD5_ENST00000357464.3_Silent_p.R299R|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Silent_p.R378R			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	299					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TACATCCCAGGGAAGATGCTT	0.328																																																	0													74	72	72					16																	50257096		1799	4066	5865	SO:0001819	synonymous_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.804G>A	16.37:g.50257096G>A			B4DV38|Q9NW67|Q9Y6C0	Silent	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.R378	ENST00000561678.1	37	c.1134		16																																																																																			PAPD5	-	NULL	ENSG00000121274		0.328	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1	-	0	43	0	G	NM_022447		50257096	1	tier1	-	no_errors	ENST00000436909	ensembl	human	known	74_37	silent	40.43	27	19	SNP	1.000	A	A	50257096	G	A	50257096	2	1	58	1	0	0	0	0	0	0	0	1	11464	1223	43	3		3	PAPD5	16	50257096	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8943	50257096	40097657	1756	16139											
NKD1	85407	genome.wustl.edu	37	chr16	50659407	50659407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatccaggagctccagtgCgacgtgtccatggaggagga	9	7	15	10	2	0	0	0	0	0	0	3	5	3	4	3	4	3	2	3	4	0	0	rs372034222		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50659407C>T	ENST00000268459.3	+	6	602	c.378C>T	c.(376-378)tgC>tgT	p.C126C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	126	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGCTCCAGTGCGACGTGTCCA	0.612													c|||	1	0.000199681	0	0	5008	,	,		15895	0		0.001	False		,,,				2504	0																0								C		0,4396		0,0,2198	93	76	82		378	0.6	1	16		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NKD1	NM_033119.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		126/471	50659407	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"EF-hand domain containing"	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.378C>T	16.37:g.50659407C>T			B2RC39|Q8WZ08	Silent	SNP	pfscan_EF_hand_dom	p.C126	ENST00000268459.3	37	c.378	CCDS10743.1	16																																																																																			NKD1	-	NULL	ENSG00000140807		0.612	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	HGNC	protein_coding	OTTHUMT00000256873.1	-	0	33	0	C			50659407	1	tier1	-	no_errors	ENST00000268459	ensembl	human	known	74_37	silent	33.33	20	10	SNP	1.000	T	T	50659407	C	T	50659407	2	4	58	1	0	0	0	0	0	0	0	1	10480	776	27	1		1	NKD1	16	50659407	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	402311	50659407	39695346	1757	16140											
CES1	1066	genome.wustl.edu	37	chr16	55857578	55857578	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccatcagcccccctccGtggatccacaccatcacctg	8	6	5	22	1	2	0	2	0	0	0	4	1	4	1	9	1	1	0	9	1	0	0	rs373389314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:55857578G>A	ENST00000361503.4	-	4	550	c.420C>T	c.(418-420)caC>caT	p.H140H	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Silent_p.H141H|CES1_ENST00000422046.2_Silent_p.H140H			P23141	EST1_HUMAN	carboxylesterase 1	140					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.H141H(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GCCCCCCTCCGTGGATCCACA	0.562																																					NSCLC(162;1801 2756 42904 52896)												1	Substitution - coding silent(1)	large_intestine(1)						G	,,	2,4390		0,2,2194	64	58	60		420,423,420	-7.7	0.7	16		60	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	,,	140/568,141/569,140/567	55857578	2,12986	2196	4298	6494	SO:0001819	synonymous_variant	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.420C>T	16.37:g.55857578G>A			A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.H141	ENST00000361503.4	37	c.423	CCDS45488.1	16																																																																																			CES1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000198848		0.562	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0	491	0	G	NM_001266		55857578	-1	tier1	-	no_errors	ENST00000360526	ensembl	human	known	74_37	silent	25.64	319	110	SNP	0.907	A	A	55857578	G	A	55857578	2	1	58	1	0	0	0	0	0	0	0	1	3276	1136	40	1		1	CES1	16	55857578	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5198171	55857578	34497175	1758	16141											
CES7	221223	genome.wustl.edu	37	chr16	55903619	55903619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcaaagatggaggctgagCcagtcttgaaggcacctcct	11	8	11	11	0	2	3	1	2	1	1	3	4	3	4	3	3	1	2	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:55903619C>T	ENST00000290567.9	-	4	576	c.455G>A	c.(454-456)gGc>gAc	p.G152D	CES5A_ENST00000319165.9_Missense_Mutation_p.G152D|CES5A_ENST00000518005.1_Missense_Mutation_p.G46D|CES5A_ENST00000520435.1_Missense_Mutation_p.G122D|CES5A_ENST00000521992.1_Missense_Mutation_p.G181D|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	152						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGAGGCTGAGCCAGTCTTGAA	0.582																																																	0													72	52	58					16																	55903619		2198	4300	6498	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.455G>A	16.37:g.55903619C>T	ENSP00000290567:p.Gly152Asp		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G181D	ENST00000290567.9	37	c.542	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388787	0.61956	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.94	4.94	0.65067	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000012	D	0.89504	0.6734	M	0.94101	3.495	0.50632	D	0.99988	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.92097	0.5685	10	0.72032	D	0.01	.	16.0398	0.80654	0.0:1.0:0.0:0.0	.	152;152	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	D	181;152;46;152;122;46	ENSP00000428864:G181D;ENSP00000324271:G152D;ENSP00000428571:G46D;ENSP00000290567:G152D;ENSP00000428887:G122D;ENSP00000439810:G46D	ENSP00000290567:G152D	G	-	2	0	CES5A	54461120	0.999000	0.42202	0.998000	0.56505	0.046000	0.14306	6.884000	0.75600	2.440000	0.82611	0.557000	0.71058	GGC	CES5A	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000159398		0.582	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	-	0	55	0	C	NM_145024		55903619	-1	tier1	-	no_errors	ENST00000521992	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.961	T	T	55903619	C	T	55903619	3	4	58	1	0	0	0	0	1	0	0	0	3279	739	26	3	1312	3	CES7	16	55903619	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	46041	55903619	34451134	1759	16142											
AMFR	267	genome.wustl.edu	37	chr16	56396935	56396935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaagctctctgaggcCgcatcatcttcagaactttt	9	11	11	10	1	4	2	2	1	2	1	5	4	4	4	1	3	2	2	1	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:56396935C>T	ENST00000290649.5	-	14	2028	c.1818G>A	c.(1816-1818)gcG>gcA	p.A606A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	606					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCTCTGAGGCCGCATCATCTT	0.547																																					Pancreas(2;144 323 39528)												0													44	43	44					16																	56396935		2198	4300	6498	SO:0001819	synonymous_variant	0			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"RING-type (C3HC4) zinc fingers"	463	protein-coding gene	gene with protein product		603243	"autocrine motility factor receptor"			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1818G>A	16.37:g.56396935C>T			P26442|Q8IZ70	Silent	SNP	pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.A606	ENST00000290649.5	37	c.1818	CCDS10758.1	16																																																																																			AMFR	-	NULL	ENSG00000159461		0.547	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2		0	59	0	C			56396935	-1			no_errors	ENST00000290649	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.000	T	T	56396935	C	T	56396935	2	4	58	1	0	0	0	0	0	0	0	1	571	639	23	1		1	AMFR	16	56396935	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	493316	56396935	33957818	1760	16143											
SLC12A3	6559	genome.wustl.edu	37	chr16	56926017	56926017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccccgtgtttgacccagcGgaggacgggaaggaagccag	11	4	15	11	3	0	1	0	1	0	0	0	5	0	5	4	4	3	1	4	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:56926017G>A	ENST00000563236.1	+	20	2416	c.2391G>A	c.(2389-2391)gcG>gcA	p.A797A	SLC12A3_ENST00000438926.2_Silent_p.A797A|SLC12A3_ENST00000566786.1_Silent_p.A796A|SLC12A3_ENST00000262502.5_Silent_p.A796A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	797					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGACCCAGCGGAGGACGGGA	0.607																																																	0													128	121	124					16																	56926017		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2391G>A	16.37:g.56926017G>A			A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A797	ENST00000563236.1	37	c.2391	CCDS58464.1	16																																																																																			SLC12A3	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.607	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	-	0	68	0	G			56926017	1	tier1	-	no_errors	ENST00000438926	ensembl	human	known	74_37	silent	29.41	36	15	SNP	0.089	A	A	56926017	G	A	56926017	2	1	58	1	0	0	0	0	0	0	0	1	14429	1103	39	1		1	SLC12A3	16	56926017	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	529082	56926017	33428736	1761	16144											
GPR114	221188	genome.wustl.edu	37	chr16	57600566	57600566	+	Frame_Shift_Del	DEL	G	G	-																															gggagccaggaaacagccctGggggggctggagccctgagg																								rs201845314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:57600566delG	ENST00000340339.4	+	7	1125	c.602delG	c.(601-603)tggfs	p.W201fs	GPR114_ENST00000349457.3_Frame_Shift_Del_p.W201fs|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	201	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						AAACAGCCCTGGGGGGGCTGG	0.602																																																	1	Insertion - Frameshift(1)	ovary(1)											60	63	62					16																	57600566		2198	4300	6498	SO:0001589	frameshift_variant	0			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"-", "GPCR / Class B : Orphans"	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.602delG	16.37:g.57600566delG	ENSP00000342981:p.Trp201fs		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.G203fs	ENST00000340339.4	37	c.602	CCDS10785.1	16																																																																																			GPR114	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000159618		0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3		0	32	0	G	NM_153837		57600566	1	tier1		no_errors	ENST00000340339	ensembl	human	known	74_37	frame_shift_del	26.32	14	5	DEL	0.995	-	-	57600566	G	-	57600566	7	5	58	1	0	1	0	1	0	0	0	0	6657	1357	47	0	624	0	GPR114	16	57600566	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	674549	57600566	32754187	1762	16145											
CNOT1	23019	genome.wustl.edu	37	chr16	58575501	58575501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcttcgtaaacagccaaCtgctttgggtccacaccacc	11	9	6	15	1	1	0	0	0	1	0	3	0	2	0	4	1	5	2	4	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:58575501C>A	ENST00000317147.5	-	34	5036	c.4704G>T	c.(4702-4704)caG>caT	p.Q1568H	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q1563H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Q419H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1568	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAACAGCCAACTGCTTTGGGT	0.413																																																	0													102	97	98					16																	58575501		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4704G>T	16.37:g.58575501C>A	ENSP00000320949:p.Gln1568His		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.Q1568H	ENST00000317147.5	37	c.4704	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253660	0.80135	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.58060	0.36	6.02	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.948;0.962;0.983	T	0.76072	-0.3093	10	0.52906	T	0.07	.	14.4659	0.67482	0.0:0.9273:0.0:0.0727	.	419;1568;1563	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1568;419;1563	ENSP00000320949:Q1568H	ENSP00000245138:Q419H	Q	-	3	2	CNOT1	57133002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.345000	0.52182	1.495000	0.48549	0.655000	0.94253	CAG	CNOT1	-	NULL	ENSG00000125107		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	41	0	C	NM_016284		58575501	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	A	A	58575501	C	A	58575501	3	1	58	1	0	0	0	0	1	0	0	0	3624	564	20	3	2490	3	CNOT1	16	58575501	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	974935	58575501	31779252	1763	16146											
ELMO3	79767	genome.wustl.edu	37	chr16	67236803	67236803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctctatcagggagctgcGggagaagctgaagccagagc	10	5	14	12	1	2	3	1	1	1	2	2	5	2	4	3	2	5	2	3	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:67236803G>A	ENST00000360833.1	+	15	1736	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	ELMO3_ENST00000477898.1_Missense_Mutation_p.R411Q|ELMO3_ENST00000393997.2_Missense_Mutation_p.R577Q|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	524	PH.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGGAGCTGCGGGAGAAGCTG	0.647																																																	0													37	45	42					16																	67236803		2115	4242	6357	SO:0001583	missense	0				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1679G>A	16.37:g.67236803G>A	ENSP00000354077:p.Arg560Gln		B4DV86|Q9H8A5	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R577Q	ENST00000360833.1	37	c.1730		16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204779	0.79127	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.50277	0.75;0.75	5.69	5.69	0.88448	.	0.050061	0.85682	D	0.000000	T	0.65291	0.2677	M	0.66378	2.025	0.52501	D	0.999955	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.59889	0.671;0.865;0.865	T	0.67639	-0.5619	10	0.87932	D	0	-30.8886	18.3833	0.90457	0.0:0.0:1.0:0.0	.	524;560;577	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	560;577	ENSP00000354077:R560Q;ENSP00000377566:R577Q	ENSP00000354077:R560Q	R	+	2	0	ELMO3	65794304	0.974000	0.33945	0.996000	0.52242	0.906000	0.53458	4.167000	0.58209	2.688000	0.91661	0.561000	0.74099	CGG	ELMO3	-	NULL	ENSG00000102890		0.647	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000257667.2	-	0	52	0	G	NM_024712		67236803	1	tier1	-	no_errors	ENST00000393997	ensembl	human	known	74_37	missense	50.00	20	20	SNP	1.000	A	A	67236803	G	A	67236803	3	1	58	1	0	0	0	0	1	0	0	0	5083	1116	39	1	1792	1	ELMO3	16	67236803	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8661302	67236803	23117950	1764	16147											
C16orf86	388284	genome.wustl.edu	37	chr16	67700903	67700903	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcggagaggcggccGggggtccaggaggcgacggt	6	2	24	9	5	0	1	0	0	0	1	1	4	1	2	2	10	0	1	2	10	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:67700903G>A	ENST00000403458.4	+	1	185	c.30G>A	c.(28-30)ccG>ccA	p.P10P	ENKD1_ENST00000602644.1_5'Flank|C16orf86_ENST00000602974.1_3'UTR|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	10										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGAGGCGGCCGGGGGTCCAGG	0.711																																																	0													3	5	4					16																	67700903		1633	3673	5306	SO:0001819	synonymous_variant	0				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.30G>A	16.37:g.67700903G>A			B5MCW6	Silent	SNP	NULL	p.P10	ENST00000403458.4	37	c.30	CCDS32468.2	16																																																																																			C16orf86	-	NULL	ENSG00000159761		0.711	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf86	HGNC	protein_coding	OTTHUMT00000318767.2	-	0	41	0	G	NM_001012984		67700903	1	tier1	-	no_errors	ENST00000403458	ensembl	human	known	74_37	silent	72.00	7	18	SNP	0.001	A	A	67700903	G	A	67700903	2	1	58	1	0	0	0	0	0	0	0	1	1844	1103	39	1		1	C16orf86	16	67700903	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	464100	67700903	22653850	1765	16148											
SLC7A6OS	84138	genome.wustl.edu	37	chr16	68337955	68337955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattcttggctgtagggctGcacggagaggatgttctcaa	8	11	13	9	1	2	1	1	0	2	1	3	3	2	2	1	4	1	5	1	4	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:68337955G>T	ENST00000263997.6	-	3	670	c.652C>A	c.(652-654)Cag>Aag	p.Q218K		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	218					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CTGTAGGGCTGCACGGAGAGG	0.512																																																	0													120	106	111					16																	68337955		2198	4300	6498	SO:0001583	missense	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.652C>A	16.37:g.68337955G>T	ENSP00000263997:p.Gln218Lys		Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.Q218K	ENST00000263997.6	37	c.652	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113876	0.77210	.	.	ENSG00000103061	ENST00000263997	T	0.18338	2.22	5.79	5.79	0.91817	.	0.111143	0.64402	D	0.000006	T	0.22205	0.0535	L	0.46885	1.475	0.44539	D	0.997495	D	0.55800	0.973	P	0.50405	0.64	T	0.01596	-1.1316	10	0.05721	T	0.95	-18.6857	17.528	0.87807	0.0:0.0:1.0:0.0	.	218	Q96CW6	S7A6O_HUMAN	K	218	ENSP00000263997:Q218K	ENSP00000263997:Q218K	Q	-	1	0	SLC7A6OS	66895456	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.561000	0.53770	2.753000	0.94483	0.555000	0.69702	CAG	SLC7A6OS	-	NULL	ENSG00000103061		0.512	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	-	0	107	0	G	NM_032178		68337955	-1	tier1	-	no_errors	ENST00000263997	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	68337955	G	T	68337955	3	4	58	1	0	0	0	0	1	0	0	0	14747	1328	46	3	289	3	SLC7A6OS	16	68337955	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	637052	68337955	22016798	1766	16149											
SNTB2	6645	genome.wustl.edu	37	chr16	69317976	69317976	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcattctggctccggatgtCgatccccctcccttggatct	4	14	8	15	2	3	0	1	0	2	0	7	3	6	2	4	3	0	1	4	3	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:69317976C>T	ENST00000336278.4	+	5	1212	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	392	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CTCCGGATGTCGATCCCCCTC	0.478																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													158	149	152					16																	69317976		2198	4300	6498	SO:0001587	stop_gained	0			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1174C>T	16.37:g.69317976C>T	ENSP00000338191:p.Arg392*		Q9BY09	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R392*	ENST00000336278.4	37	c.1174	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033555	0.93575	.	.	ENSG00000168807	ENST00000336278;ENST00000467311	.	.	.	5.32	4.31	0.51392	.	0.126170	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.8078	13.9271	0.63968	0.2371:0.7629:0.0:0.0	.	.	.	.	X	392;43	.	ENSP00000338191:R392X	R	+	1	2	SNTB2	67875477	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.577000	0.36515	2.485000	0.83878	0.655000	0.94253	CGA	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000168807		0.478	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	-	0	104	0	C			69317976	1	tier1	-	no_errors	ENST00000336278	ensembl	human	known	74_37	nonsense	66.25	27	53	SNP	1.000	T	T	69317976	C	T	69317976	4	4	58	1	0	0	0	0	0	1	0	0	14918	876	31	1	1192	1	SNTB2	16	69317976	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	980021	69317976	21036777	1767	16150											
NQO1	1728	genome.wustl.edu	37	chr16	69752048	69752048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaatatcacaaggtctgcgGcttccagcttcttttgttca	8	14	9	10	1	4	0	2	0	2	0	5	1	5	1	1	3	2	3	1	3	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:69752048G>A	ENST00000320623.5	-	3	792	c.281C>T	c.(280-282)gCc>gTc	p.A94V	NQO1_ENST00000379047.3_Missense_Mutation_p.A94V|NQO1_ENST00000561500.1_Missense_Mutation_p.A94V|NQO1_ENST00000439109.2_Missense_Mutation_p.A94V|NQO1_ENST00000564043.1_Missense_Mutation_p.A73V|NQO1_ENST00000379046.2_Missense_Mutation_p.A94V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	94					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AAGGTCTGCGGCTTCCAGCTT	0.488																																																	0													174	182	179					16																	69752048		2198	4300	6498	SO:0001583	missense	0			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.281C>T	16.37:g.69752048G>A	ENSP00000319788:p.Ala94Val		B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like	p.A94V	ENST00000320623.5	37	c.281	CCDS10883.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154262	0.78114	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	6.03	2.61	0.31194	Flavodoxin-like fold (1);	0.218233	0.47455	D	0.000223	T	0.22360	0.0539	M	0.76938	2.355	0.43841	D	0.996423	D;P;P;P	0.67145	0.996;0.873;0.637;0.83	P;P;P;B	0.49387	0.606;0.609;0.471;0.362	T	0.21484	-1.0244	9	.	.	.	-3.8579	16.2224	0.82265	0.0:0.0:0.6437:0.3563	.	94;94;94;94	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	V	94	ENSP00000319788:A94V;ENSP00000368335:A94V;ENSP00000368334:A94V;ENSP00000398330:A94V	.	A	-	2	0	NQO1	68309549	0.949000	0.32298	0.964000	0.40570	0.966000	0.64601	2.829000	0.48128	0.835000	0.34877	-0.181000	0.13052	GCC	NQO1	-	pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like	ENSG00000181019		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NQO1	HGNC	protein_coding	OTTHUMT00000268956.2	-	0	43	0	G			69752048	-1	tier1	-	no_errors	ENST00000320623	ensembl	human	known	74_37	missense	72.00	7	18	SNP	0.871	A	A	69752048	G	A	69752048	3	1	58	1	0	0	0	0	1	0	0	0	10650	1203	42	3	559	3	NQO1	16	69752048	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	434072	69752048	20602705	1768	16151											
CLEC18A	348174	genome.wustl.edu	37	chr16	69985298	69985298	+	Frame_Shift_Del	DEL	G	G	-																															tccagagacctcccctggccGggggcatctcctggctgtgc																								rs558566760	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:69985298delG	ENST00000288040.6	+	1	216	c.29delG	c.(28-30)cggfs	p.R10fs	CLEC18A_ENST00000393701.2_Frame_Shift_Del_p.R10fs|CLEC18A_ENST00000449317.2_Frame_Shift_Del_p.R10fs|CLEC18A_ENST00000568461.1_Frame_Shift_Del_p.R10fs	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	10						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						TCCCCTGGCCGGGGGCATCTC	0.682																																																	0													1	1	1					16																	69985298		296	659	955	SO:0001589	frameshift_variant	0			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.29delG	16.37:g.69985298delG	ENSP00000288040:p.Arg10fs		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Frame_Shift_Del	DEL	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.H12fs	ENST00000288040.6	37	c.29	CCDS10886.1	16																																																																																			CLEC18A	-	NULL	ENSG00000157322		0.682	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18A	HGNC	protein_coding	OTTHUMT00000268955.2		0	59	0	G	NM_182619		69985298	1			no_errors	ENST00000449317	ensembl	human	known	74_37	frame_shift_del	10.91	49	6	DEL	0.000	0	-	69985298	G	-	69985298	7	5	58	1	0	1	0	1	0	0	0	0	3509	1116	39	0	31	0	CLEC18A	16	69985298	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	233250	69985298	20369455	1769	16152											
DDX19A	55308	genome.wustl.edu	37	chr16	70405395	70405395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgggccgctttggcaagaGgggcctggcagtgaacatgg	8	6	17	10	2	0	2	0	1	0	1	0	2	0	2	2	6	1	3	2	6	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70405395G>T	ENST00000302243.7	+	11	1467	c.1304G>T	c.(1303-1305)aGg>aTg	p.R435M	DDX19A_ENST00000417604.2_Missense_Mutation_p.R404M|DDX19A_ENST00000443119.2_Missense_Mutation_p.R345M	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	435	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TTTGGCAAGAGGGGCCTGGCA	0.572																																																	0													13	13	13					16																	70405395		2148	4231	6379	SO:0001583	missense	0			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1304G>T	16.37:g.70405395G>T	ENSP00000306117:p.Arg435Met		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R435M	ENST00000302243.7	37	c.1304	CCDS10889.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435610	0.83885	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.03468	3.99;3.92;3.92	4.9	4.9	0.64082	Helicase, C-terminal (1);	0.120527	0.64402	D	0.000009	T	0.13286	0.0322	L	0.45581	1.43	0.80722	D	1	D;D;D;D;P	0.76494	0.998;0.958;0.999;0.999;0.945	P;P;P;D;B	0.75484	0.786;0.719;0.866;0.986;0.443	T	0.00601	-1.1650	10	0.87932	D	0	-15.7875	15.58	0.76425	0.0:0.0:1.0:0.0	.	345;404;270;435;436	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	M	435;327;404;345	ENSP00000306117:R435M;ENSP00000410243:R404M;ENSP00000399208:R345M	ENSP00000306209:R327M	R	+	2	0	DDX19A	68962896	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.141000	0.71744	2.257000	0.74773	0.491000	0.48974	AGG	DDX19A	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000168872		0.572	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	-	0	32	0	G	NM_018332		70405395	1	tier1	-	no_errors	ENST00000302243	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	T	T	70405395	G	T	70405395	3	4	58	1	0	0	0	0	1	0	0	0	4355	1000	35	3	1346	3	DDX19A	16	70405395	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	420097	70405395	19949358	1770	16153											
HYDIN	54768	genome.wustl.edu	37	chr16	70889081	70889081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacatacaagcaggctgttGctgaaaccttcagaatagcg	13	8	11	9	1	1	2	1	1	0	1	1	3	1	3	1	2	5	4	1	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70889081G>A	ENST00000393567.2	-	73	12543	c.12393C>T	c.(12391-12393)agC>agT	p.S4131S	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4131					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGGCTGTTGCTGAAACCTT	0.498																																																	0													17	26	23					16																	70889081		1772	4061	5833	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12393C>T	16.37:g.70889081G>A			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.S4131	ENST00000393567.2	37	c.12393	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.498	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	26	0	G			70889081	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	61.90	8	13	SNP	0.701	A	A	70889081	G	A	70889081	2	1	58	1	0	0	0	0	0	0	0	1	7494	1310	46	3		3	HYDIN	16	70889081	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	483686	70889081	19465672	1771	16154											
HYDIN	54768	genome.wustl.edu	37	chr16	70934983	70934983	+	Frame_Shift_Del	DEL	G	G	-																															gcaggccgtactcagcctcaGgggggatggtcccctgcatc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70934983delG	ENST00000393567.2	-	53	9122	c.8972delC	c.(8971-8973)cctfs	p.P2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCAGCCTCAGGGGGGATGGT	0.577																																																	0													154	148	150					16																	70934983		2014	4180	6194	SO:0001589	frameshift_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8972delC	16.37:g.70934983delG	ENSP00000377197:p.Pro2991fs		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,superfamily_PapD-like	p.P2991fs	ENST00000393567.2	37	c.8972	CCDS59269.1	16																																																																																			HYDIN	-	superfamily_PapD-like	ENSG00000157423		0.577	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0	60	0	G			70934983	-1			no_errors	ENST00000393567	ensembl	human	putative	74_37	frame_shift_del	16.33	41	8	DEL	0.097	0	-	70934983	G	-	70934983	7	5	58	1	0	1	0	1	0	0	0	0	7494	1000	35	0	6529	0	HYDIN	16	70934983	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	45902	70934983	19419770	1772	16155											
HYDIN	54768	genome.wustl.edu	37	chr16	71052314	71052314	+	Frame_Shift_Del	DEL	T	T	-																															ggtcaaacttgatcagcaggTttttttcttcatcaatttcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:71052314delT	ENST00000393567.2	-	23	3512	c.3362delA	c.(3361-3363)aacfs	p.N1121fs	HYDIN_ENST00000448089.2_Frame_Shift_Del_p.N1073fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1121					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATCAGCAGGTTTTTTTCTTC	0.383																																																	0													3	3	3					16																	71052314		1036	2198	3234	SO:0001589	frameshift_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3362delA	16.37:g.71052314delT	ENSP00000377197:p.Asn1121fs		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	superfamily_PapD-like	p.N1073fs	ENST00000393567.2	37	c.3218	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.383	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0	11	0	T			71052314	-1			no_errors	ENST00000448089	ensembl	human	known	74_37	frame_shift_del	57.14	3	4	DEL	0.002	0	-	71052314	T	-	71052314	7	5	58	1	0	1	0	1	0	0	0	0	7494	1725	60	0	12256	0	HYDIN	16	71052314	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	117331	71052314	19302439	1773	16156											
DHX38	9785	genome.wustl.edu	37	chr16	72141562	72141562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtggtctgacctctaccgGgcggctgatggtggagttcc	5	10	16	10	2	2	2	0	2	2	0	3	3	3	3	3	6	1	2	3	6	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:72141562G>A	ENST00000268482.3	+	21	3337	c.2828G>A	c.(2827-2829)gGg>gAg	p.G943E	DHX38_ENST00000536867.1_Missense_Mutation_p.G255E	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	943					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACCTCTACCGGGCGGCTGATG	0.582																																					Melanoma(97;711 1442 7855 13832 28836)												0													156	153	154					16																	72141562		2198	4300	6498	SO:0001583	missense	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2828G>A	16.37:g.72141562G>A	ENSP00000268482:p.Gly943Glu		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G943E	ENST00000268482.3	37	c.2828	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647721	0.87958	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.80304	-1.36;-1.36	5.43	5.43	0.79202	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	H	0.99990	5.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98055	1.0390	10	0.87932	D	0	.	19.4202	0.94719	0.0:0.0:1.0:0.0	.	255;943	B4DVG8;Q92620	.;PRP16_HUMAN	E	943;255	ENSP00000268482:G943E;ENSP00000437898:G255E	ENSP00000268482:G943E	G	+	2	0	DHX38	70699063	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.463000	0.80869	2.825000	0.97269	0.655000	0.94253	GGG	DHX38	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000140829		0.582	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	-	0	103	0	G	NM_014003		72141562	1	tier1	-	no_errors	ENST00000268482	ensembl	human	known	74_37	missense	39.36	57	37	SNP	1.000	A	A	72141562	G	A	72141562	3	1	58	1	0	0	0	0	1	0	0	0	4525	1232	43	3	2906	3	DHX38	16	72141562	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1089248	72141562	18213191	1774	16157											
ZFHX3	463	genome.wustl.edu	37	chr16	72822521	72822521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgtggtgtgggtggCggctgggctgctggcggcgg	1	8	25	7	3	0	0	0	0	0	0	0	1	0	1	0	9	2	4	0	9	0	0	rs374377988		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:72822521C>T	ENST00000268489.5	-	10	10326	c.9654G>A	c.(9652-9654)ccG>ccA	p.P3218P	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.P2304P|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3218					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGTGGGTGGCGGCTGGGCTG	0.622																																																	0													119	129	126					16																	72822521		2198	4300	6498	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9654G>A	16.37:g.72822521C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P3218	ENST00000268489.5	37	c.9654	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	101	0	C	NM_006885		72822521	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	51.22	40	42	SNP	0.110	T	T	72822521	C	T	72822521	2	4	58	1	0	0	0	0	0	0	0	1	17682	755	27	1		1	ZFHX3	16	72822521	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	680959	72822521	17532232	1775	16158											
ZFHX3	463	genome.wustl.edu	37	chr16	72822738	72822738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcaagttcggcttaggaGacgttaaagctgaaaggaat	14	9	11	7	2	1	2	1	1	0	1	2	4	1	3	1	3	1	4	1	3	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:72822738G>A	ENST00000268489.5	-	10	10109	c.9437C>T	c.(9436-9438)tCt>tTt	p.S3146F	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2232F|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3146					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCTTAGGAGACGTTAAAGC	0.542																																																	0													84	86	85					16																	72822738		2198	4297	6495	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9437C>T	16.37:g.72822738G>A	ENSP00000268489:p.Ser3146Phe		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S3146F	ENST00000268489.5	37	c.9437	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531768	0.45073	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76578	-1.03;-1.01	5.89	5.89	0.94794	.	0.000000	0.49916	D	0.000138	T	0.80565	0.4647	L	0.43923	1.385	0.58432	D	0.999996	D	0.56521	0.976	P	0.51016	0.656	T	0.81256	-0.1015	10	0.62326	D	0.03	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	3146	Q15911	ZFHX3_HUMAN	F	3146;2232	ENSP00000268489:S3146F;ENSP00000438926:S2232F	ENSP00000268489:S3146F	S	-	2	0	ZFHX3	71380239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.788000	0.95919	0.557000	0.71058	TCT	ZFHX3	-	NULL	ENSG00000140836		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	69	0	G	NM_006885		72822738	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	A	A	72822738	G	A	72822738	3	1	58	1	0	0	0	0	1	0	0	0	17682	942	33	3	1678	3	ZFHX3	16	72822738	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	217	72822738	17532015	1776	16159											
ZFP1	162239	genome.wustl.edu	37	chr16	75203538	75203539	+	Frame_Shift_Ins	INS	-	-	A																															atttttaaacatcagaaaatINSaaaaaacttggttcaacctt																								rs538400568		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:75203538_75203539insA	ENST00000393430.2	+	4	654_655	c.530_531insA	c.(529-534)ataaaafs	p.IK177fs	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Frame_Shift_Ins_p.IK177fs|ZFP1_ENST00000332307.4_Frame_Shift_Ins_p.IK144fs|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						CATCAGAAAATAAAAAACTTGG	0.361																																					NSCLC(187;1429 2122 10143 20357 42217)												0																																										SO:0001589	frameshift_variant	0			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"Zinc fingers, C2H2-type", "-"	23328	protein-coding gene	gene with protein product			"zinc finger protein 1 homolog (mouse)", "zinc finger protein 1"			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.536dupA	16.37:g.75203544_75203544dupA	ENSP00000377080:p.Ile177fs		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N179fs	ENST00000393430.2	37	c.530_531	CCDS10914.2	16																																																																																			ZFP1	-	NULL	ENSG00000184517		0.361	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP1	HGNC	protein_coding	OTTHUMT00000269013.2		0	14	0	-	NM_153688		75203539	1	tier1		no_errors	ENST00000393430	ensembl	human	known	74_37	frame_shift_ins	27.78	13	5	INS	0.862:0.295	A	A	75203539	-	A	75203538	7	5	58	1	0	1	1	0	0	0	0	0	17684	1406	49	0	540	0	ZFP1	16	75203538	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	2380800	75203538	15151215	1777	16160											
WWOX	51741	genome.wustl.edu	37	chr16	78420830	78420830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcattttgctgaagcatTcaaggccaagaatgtgtgag	12	10	12	7	0	1	3	1	2	0	1	1	3	1	3	1	1	3	4	1	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:78420830T>C	ENST00000566780.1	+	6	956	c.590T>C	c.(589-591)tTc>tCc	p.F197S	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.F197S|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	197	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GCTGAAGCATTCAAGGCCAAG	0.408																																																	0													120	116	117					16																	78420830		1956	4149	6105	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.590T>C	16.37:g.78420830T>C	ENSP00000457230:p.Phe197Ser		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.F197S	ENST00000566780.1	37	c.590	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986598	0.74589	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	D	0.87256	-2.23	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.052280	0.85682	D	0.000000	D	0.93959	0.8066	M	0.88775	2.98	0.58432	D	0.999998	D	0.63046	0.992	D	0.64687	0.928	D	0.95024	0.8163	10	0.87932	D	0	.	15.6564	0.77140	0.0:0.0:0.0:1.0	.	197	Q9NZC7	WWOX_HUMAN	S	197;40	ENSP00000386161:F197S	ENSP00000299644:F40S	F	+	2	0	WWOX	76978331	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.581000	0.74045	2.100000	0.63781	0.533000	0.62120	TTC	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000186153		0.408	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	-	0	93	0	T			78420830	1	tier1	-	no_errors	ENST00000566780	ensembl	human	known	74_37	missense	63.04	17	29	SNP	1.000	C	C	78420830	T	C	78420830	3	2	58	1	0	0	0	0	1	0	0	0	17463	1783	62	4	674	4	WWOX	16	78420830	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3217292	78420830	11933923	1778	16161											
WWOX	51741	genome.wustl.edu	37	chr16	78466429	78466429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaactggacttcagtcGcctctctccaacaaaaaacg	14	7	8	12	2	2	0	1	0	1	0	5	2	3	2	2	2	3	0	2	2	6	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:78466429G>A	ENST00000566780.1	+	8	1202	c.836G>A	c.(835-837)cGc>cAc	p.R279H	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.R279H|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	279	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GACTTCAGTCGCCTCTCTCCA	0.458																																																	0													112	114	114					16																	78466429		1952	4137	6089	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.836G>A	16.37:g.78466429G>A	ENSP00000457230:p.Arg279His		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.R279H	ENST00000566780.1	37	c.836	CCDS42196.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.538|8.538	0.872563|0.872563	0.17322|0.17322	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|T	.|0.22134	.|1.97	5.93|5.93	3.79|3.79	0.43588|0.43588	.|NAD(P)-binding domain (1);	.|0.269957	.|0.37669	.|N	.|0.001995	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.21097|0.21097	0.63|0.63	0.34786|0.34786	D|D	0.735265|0.735265	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.12400|0.12400	-1.0549|-1.0549	6|10	0.87932|0.31617	D|T	0|0.26	.|.	12.285|12.285	0.54788|0.54788	0.0:0.0:0.4283:0.5717|0.0:0.0:0.4283:0.5717	.|.	.|279	.|Q9NZC7	.|WWOX_HUMAN	T|H	122|279	.|ENSP00000386161:R279H	ENSP00000299644:A122T|ENSP00000386161:R279H	A|R	+|+	1|2	0|0	WWOX|WWOX	77023930|77023930	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.021000|0.021000	0.10359|0.10359	4.487000|4.487000	0.60293|0.60293	1.451000|1.451000	0.47736|0.47736	0.655000|0.655000	0.94253|0.94253	GCC|CGC	WWOX	-	NULL	ENSG00000186153		0.458	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1		0	20	0	G			78466429	1			no_errors	ENST00000566780	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	A	A	78466429	G	A	78466429	3	1	58	1	0	0	0	0	1	0	0	0	17463	1087	38	1	928	1	WWOX	16	78466429	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	45599	78466429	11888324	1779	16162											
ATMIN	23300	genome.wustl.edu	37	chr16	81077608	81077608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgggatagaaagtccaaCggatgaccatgtacagatgg	14	7	13	7	1	0	3	0	1	0	2	1	5	1	5	2	3	2	1	2	3	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:81077608C>T	ENST00000299575.4	+	4	1529	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.T346M|ATMIN_ENST00000564241.1_Missense_Mutation_p.T346M	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	502					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GAAAGTCCAACGGATGACCAT	0.433																																																	0													80	78	79					16																	81077608		2201	4300	6501	SO:0001583	missense	0			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1505C>T	16.37:g.81077608C>T	ENSP00000299575:p.Thr502Met		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.T502M	ENST00000299575.4	37	c.1505	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	C	2.852	-0.238135	0.05944	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.31247	1.5	6.17	5.23	0.72850	.	0.911746	0.09725	N	0.763905	T	0.20251	0.0487	L	0.51422	1.61	0.09310	N	1	P	0.48350	0.909	B	0.32724	0.151	T	0.22661	-1.0210	10	0.25106	T	0.35	0.0139	3.0689	0.06224	0.1465:0.5594:0.1413:0.1528	.	502	O43313	ATMIN_HUMAN	M	502;273	ENSP00000299575:T502M	ENSP00000299575:T502M	T	+	2	0	ATMIN	79635109	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.896000	0.28377	1.630000	0.50440	0.655000	0.94253	ACG	ATMIN	-	NULL	ENSG00000166454		0.433	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	-	0	46	0	C	NM_015251		81077608	1	tier1	-	no_errors	ENST00000299575	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.000	T	T	81077608	C	T	81077608	3	4	58	1	0	0	0	0	1	0	0	0	1111	536	19	1	1519	1	ATMIN	16	81077608	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2611179	81077608	9277145	1780	16163											
SLC38A8	146167	genome.wustl.edu	37	chr16	84050327	84050327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagaagtcctgcatcActgacctggaggccacagcc	9	7	9	16	0	1	2	1	1	0	1	4	3	4	3	6	2	2	1	6	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84050327A>G	ENST00000299709.3	-	8	958	c.959T>C	c.(958-960)gTg>gCg	p.V320A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	320					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCTGCATCACTGACCTGGA	0.672																																																	0													36	40	39					16																	84050327		2198	4300	6498	SO:0001583	missense	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"Solute carriers"	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.959T>C	16.37:g.84050327A>G	ENSP00000299709:p.Val320Ala			Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.V320A	ENST00000299709.3	37	c.959	CCDS32495.1	16	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416700	0.25552	.	.	ENSG00000166558	ENST00000299709	T	0.02258	4.37	4.36	4.36	0.52297	.	0.214335	0.40640	N	0.001049	T	0.06735	0.0172	L	0.59912	1.85	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	T	0.36163	-0.9759	10	0.02654	T	1	.	11.0731	0.48014	1.0:0.0:0.0:0.0	.	320	A6NNN8	S38A8_HUMAN	A	320	ENSP00000299709:V320A	ENSP00000299709:V320A	V	-	2	0	SLC38A8	82607828	1.000000	0.71417	0.994000	0.49952	0.200000	0.23975	7.582000	0.82546	1.616000	0.50265	0.391000	0.25812	GTG	SLC38A8	-	pfam_AA_transpt_TM	ENSG00000166558		0.672	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	-	0	23	0	A	NM_001080442		84050327	-1	tier1	-	no_errors	ENST00000299709	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	G	G	84050327	A	G	84050327	3	3	58	1	0	0	0	0	1	0	0	0	14655	159	6	4	360	4	SLC38A8	16	84050327	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2972719	84050327	6304426	1781	16164											
MBTPS1	8720	genome.wustl.edu	37	chr16	84108235	84108235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgtgactcccatgccGttgaggatggtgacattaac	8	12	10	11	1	0	3	0	3	0	0	2	4	2	4	3	2	2	1	3	2	1	3	rs372301408		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84108235G>A	ENST00000343411.3	-	12	2055	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	520					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCATGCCGTTGAGGATGG	0.488													G|||	1	0.000199681	0	0	5008	,	,		21462	0		0	False		,,,				2504	0.001																0								G		1,4399	2.1+/-5.4	0,1,2199	121	98	105		1560	-4.5	1	16		105	0,8600		0,0,4300	no	coding-synonymous	MBTPS1	NM_003791.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		520/1053	84108235	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1560C>T	16.37:g.84108235G>A			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.N520	ENST00000343411.3	37	c.1560	CCDS10941.1	16																																																																																			MBTPS1	-	NULL	ENSG00000140943		0.488	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	-	0	61	0	G	NM_003791		84108235	-1	tier1	-	no_errors	ENST00000343411	ensembl	human	known	74_37	silent	53.57	26	30	SNP	0.979	A	A	84108235	G	A	84108235	2	1	58	1	0	0	0	0	0	0	0	1	9399	1136	40	1		1	MBTPS1	16	84108235	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	57908	84108235	6246518	1782	16165											
MBTPS1	8720	genome.wustl.edu	37	chr16	84127327	84127327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacccaccatcgtccagcGttcgctcgttggtccagttg	6	10	11	14	4	0	1	0	0	0	1	5	2	2	1	4	1	1	4	4	1	0	3	rs146110910		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84127327G>A	ENST00000343411.3	-	5	1220	c.725C>T	c.(724-726)aCg>aTg	p.T242M	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	242	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCGTCCAGCGTTCGCTCGTT	0.493																																																	0													169	124	139					16																	84127327		2200	4300	6500	SO:0001583	missense	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.725C>T	16.37:g.84127327G>A	ENSP00000344223:p.Thr242Met		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.T242M	ENST00000343411.3	37	c.725	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996101	0.93167	.	.	ENSG00000140943	ENST00000343411	T	0.44482	0.92	5.44	5.44	0.79542	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.65125	-0.6244	10	0.87932	D	0	-23.2761	19.2669	0.93990	0.0:0.0:1.0:0.0	.	242	Q14703	MBTP1_HUMAN	M	242	ENSP00000344223:T242M	ENSP00000344223:T242M	T	-	2	0	MBTPS1	82684828	1.000000	0.71417	0.437000	0.26809	0.166000	0.22503	9.605000	0.98321	2.549000	0.85964	0.655000	0.94253	ACG	MBTPS1	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000140943		0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	-	0	46	0	G	NM_003791		84127327	-1	tier1	-	no_errors	ENST00000343411	ensembl	human	known	74_37	missense	28.57	34	14	SNP	1.000	A	A	84127327	G	A	84127327	3	1	58	1	0	0	0	0	1	0	0	0	9399	1145	40	1	2509	1	MBTPS1	16	84127327	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	19092	84127327	6227426	1783	16166											
MBTPS1	8720	genome.wustl.edu	37	chr16	84132850	84132850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctacttcactgctcttcaGggcacttgaaataaatgaat	12	13	7	9	0	4	2	2	2	2	0	4	2	4	2	0	1	2	2	0	1	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84132850G>T	ENST00000343411.3	-	3	724	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	77					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGCTCTTCAGGGCACTTGAA	0.343																																																	0													107	96	100					16																	84132850		2200	4300	6500	SO:0001583	missense	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.229C>A	16.37:g.84132850G>T	ENSP00000344223:p.Leu77Met		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.L77M	ENST00000343411.3	37	c.229	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307590	0.81247	.	.	ENSG00000140943	ENST00000343411	T	0.52754	0.65	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.72207	-0.4360	10	0.72032	D	0.01	-15.4681	14.9298	0.70906	0.0705:0.0:0.9295:0.0	.	77	Q14703	MBTP1_HUMAN	M	77	ENSP00000344223:L77M	ENSP00000344223:L77M	L	-	1	2	MBTPS1	82690351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.047000	0.49854	2.670000	0.90874	0.650000	0.86243	CTG	MBTPS1	-	NULL	ENSG00000140943		0.343	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2		0	72	0	G	NM_003791		84132850	-1			no_errors	ENST00000343411	ensembl	human	known	74_37	missense	7.22	90	7	SNP	1.000	T	T	84132850	G	T	84132850	3	4	58	1	0	0	0	0	1	0	0	0	9399	991	35	3	3013	3	MBTPS1	16	84132850	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5523	84132850	6221903	1784	16167											
TAF1C	9013	genome.wustl.edu	37	chr16	84214674	84214674	+	Frame_Shift_Del	DEL	G	G	-																															tacagacgagatgaagagtaGgggggaggcatttggggctg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84214674delG	ENST00000567759.1	-	11	1543	c.1361delC	c.(1360-1362)cctfs	p.P454fs	TAF1C_ENST00000566732.1_Frame_Shift_Del_p.P428fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.P454fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.P122fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.P361fs|TAF1C_ENST00000341690.6_Frame_Shift_Del_p.P361fs	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	454					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ATGAAGAGTAGGGGGGAGGCA	0.592																																																	0									,	20,4244		9,2,2121	56	54	55		,	2.6	0.2	16		54	17,8237		7,3,4117	no	frameshift,frameshift	TAF1C	NM_139353.2,NM_005679.3	,	16,5,6238	A1A1,A1R,RR		0.206,0.469,0.2956	,	,	84214674	37,12481	2200	4300	6500	SO:0001589	frameshift_variant	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1361delC	16.37:g.84214674delG	ENSP00000455265:p.Pro454fs		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.P454fs	ENST00000567759.1	37	c.1361	CCDS32496.1	16																																																																																			TAF1C	-	NULL	ENSG00000103168		0.592	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2		0	63	0	G	NM_139353		84214674	-1	tier1		no_errors	ENST00000378541	ensembl	human	known	74_37	frame_shift_del	30.77	45	20	DEL	0.870	-	-	84214674	G	-	84214674	7	5	58	1	0	1	0	1	0	0	0	0	15568	1000	35	0	1264	0	TAF1C	16	84214674	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	81824	84214674	6140079	1785	16168											
USP10	9100	genome.wustl.edu	37	chr16	84797822	84797822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttccgtcacccgccaggcGgattttgttcagactccaat	8	11	8	14	3	2	1	2	0	0	1	4	2	4	2	4	2	0	1	4	2	1	4	rs376798108		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84797822G>A	ENST00000219473.7	+	10	1898	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	USP10_ENST00000570191.1_Silent_p.A599A	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	595	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCCGCCAGGCGGATTTTGTTC	0.478																																																	0								G		1,3715		0,1,1857	90	92	91		1785	-11.2	0.1	16		91	0,8176		0,0,4088	no	coding-synonymous	USP10	NM_005153.2		0,1,5945	AA,AG,GG		0.0,0.0269,0.0084		595/799	84797822	1,11891	1858	4088	5946	SO:0001819	synonymous_variant	0			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1785G>A	16.37:g.84797822G>A			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67	p.A599	ENST00000219473.7	37	c.1797	CCDS45537.1	16																																																																																			USP10	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000103194		0.478	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	-	0	35	0	G			84797822	1	tier1	-	no_errors	ENST00000570191	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.008	A	A	84797822	G	A	84797822	2	1	58	1	0	0	0	0	0	0	0	1	17090	1103	39	1		1	USP10	16	84797822	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	583148	84797822	5556931	1786	16169											
ZDHHC7	55625	genome.wustl.edu	37	chr16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-																															ggattcatccagaggagtgaGgggggccccccaaagacgga																								rs531874653		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:85010039delG	ENST00000313732.4	-	8	1189	c.837delC	c.(835-837)cccfs	p.P279fs	ZDHHC7_ENST00000569488.1_5'Flank|ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.P316fs	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	279					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S280fs*5(1)		large_intestine(6)|lung(4)	10						AGAGGAGTGAGGGGGGCCCCC	0.587																																																	1	Deletion - Frameshift(1)	large_intestine(1)											48	59	55					16																	85010039		2199	4300	6499	SO:0001589	frameshift_variant	0			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"Zinc fingers, DHHC-type"	18459	protein-coding gene	gene with protein product	"Sertoli cell gene with zinc finger domain-&#946;"	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.837delC	16.37:g.85010039delG	ENSP00000315604:p.Pro279fs		D3DUM1|Q8WV42|Q9NVD8	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S317fs	ENST00000313732.4	37	c.948	CCDS10950.1	16																																																																																			ZDHHC7	-	NULL	ENSG00000153786		0.587	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1		0	36	0	G	NM_017740		85010039	-1	tier1		no_errors	ENST00000344861	ensembl	human	known	74_37	frame_shift_del	27.27	16	6	DEL	0.902	-	-	85010039	G	-	85010039	7	5	58	1	0	1	0	1	0	0	0	0	17668	987	35	0	93	0	ZDHHC7	16	85010039	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	212217	85010039	5344714	1787	16170											
FOXF1	2294	genome.wustl.edu	37	chr16	86545069	86545069	+	Frame_Shift_Del	DEL	C	C	-																															ccctgtaaccccgcggccaaCcccctgtccggcagcctctc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:86545069delC	ENST00000262426.4	+	1	937	c.894delC	c.(892-894)aacfs	p.N298fs	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	298					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CCGCGGCCAACCCCCTGTCCG	0.706																																																	0													5	6	6					16																	86545069		2027	4033	6060	SO:0001589	frameshift_variant	0			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"Forkhead boxes"	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.894delC	16.37:g.86545069delC	ENSP00000262426:p.Asn298fs		B2RAF4|Q5FWE5	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L300fs	ENST00000262426.4	37	c.894	CCDS10957.2	16																																																																																			FOXF1	-	NULL	ENSG00000103241		0.706	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FOXF1	HGNC	protein_coding	OTTHUMT00000269103.2		0	10	0	C	NM_001451		86545069	1			no_errors	ENST00000262426	ensembl	human	known	74_37	frame_shift_del	28.57	10	4	DEL	1.000	0	-	86545069	C	-	86545069	7	5	58	1	0	1	0	1	0	0	0	0	6029	506	18	0	896	0	FOXF1	16	86545069	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1535030	86545069	3809684	1788	16171											
JPH3	57338	genome.wustl.edu	37	chr16	87723991	87723991	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccgcggagcccgccgtGcagaaactggcgagcctgcg	6	5	14	16	6	0	1	0	0	0	1	2	3	2	2	5	2	5	1	5	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:87723991G>T	ENST00000284262.2	+	4	2267	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	675					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCCCGCCGTGCAGAAACTGG	0.692																																																	0													6	7	7					16																	87723991		2150	4213	6363	SO:0001819	synonymous_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.2025G>T	16.37:g.87723991G>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.V675	ENST00000284262.2	37	c.2025	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.692	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	-	0	72	0	G			87723991	1	tier1	-	no_errors	ENST00000284262	ensembl	human	known	74_37	silent	13.21	46	7	SNP	0.895	T	T	87723991	G	T	87723991	2	4	58	1	0	0	0	0	0	0	0	1	7989	1306	46	3		3	JPH3	16	87723991	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1178922	87723991	2630762	1789	16172											
ZC3H18	124245	genome.wustl.edu	37	chr16	88665107	88665107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgggaacgaggactccGgcatgcaaaggaggtaaaca	13	5	14	9	2	0	0	0	0	0	0	1	4	1	3	2	5	4	3	2	5	4	1	rs369341569		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88665107G>A	ENST00000301011.5	+	5	1117	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R330Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	306						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGAGGACTCCGGCATGCAAAG	0.507																																					Ovarian(121;375 2276 20373 38669)												0								G	GLN/ARG	0,4396		0,0,2198	31	30	30		917	4.9	1	16		30	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H18	NM_144604.3	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	306/954	88665107	1,12995	2198	4300	6498	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.917G>A	16.37:g.88665107G>A	ENSP00000301011:p.Arg306Gln		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.R306Q	ENST00000301011.5	37	c.917	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536027	0.85812	0.0	1.16E-4	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.79141	-1.24;-1.2	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	M	0.63843	1.955	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.99;0.996	D	0.87941	0.2717	10	0.87932	D	0	-20.2028	16.5273	0.84334	0.0:0.0:1.0:0.0	.	330;330;306	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	306;330;330;189	ENSP00000301011:R306Q;ENSP00000416951:R330Q	ENSP00000289509:R330Q	R	+	2	0	ZC3H18	87192608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.733000	0.91539	2.398000	0.81561	0.561000	0.74099	CGG	ZC3H18	-	NULL	ENSG00000158545		0.507	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0	34	0	G	NM_144604		88665107	1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	A	A	88665107	G	A	88665107	3	1	58	1	0	0	0	0	1	0	0	0	17616	1116	39	1	931	1	ZC3H18	16	88665107	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	941116	88665107	1689646	1790	16173											
APRT	353	genome.wustl.edu	37	chr16	88876196	88876196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaggctcacgcactcCaggacctcagcctgcaggcg	8	5	10	18	2	2	0	2	0	0	0	4	1	4	1	5	3	2	3	5	3	0	0	rs369507525		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88876196C>T	ENST00000378364.3	-	5	497	c.453G>A	c.(451-453)ctG>ctA	p.L151L	APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Silent_p.L124L	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	151					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	TCACGCACTCCAGGACCTCAG	0.637																																																	0													66	61	63					16																	88876196		2197	4299	6496	SO:0001819	synonymous_variant	0				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.453G>A	16.37:g.88876196C>T			G5E9J2|Q3KP55|Q68DF9	Silent	SNP	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.L151	ENST00000378364.3	37	c.453	CCDS32511.1	16																																																																																			APRT	-	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	ENSG00000198931		0.637	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	HGNC	protein_coding	OTTHUMT00000430000.2	-	0	45	0	C	NM_000485		88876196	-1	tier1	-	no_errors	ENST00000378364	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	88876196	C	T	88876196	2	4	58	1	0	0	0	0	0	0	0	1	819	581	21	3		3	APRT	16	88876196	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	211089	88876196	1478557	1791	16174											
PABPN1L	390748	genome.wustl.edu	37	chr16	88933000	88933001	+	Frame_Shift_Ins	INS	-	-	G																															gtgggaagagagagcggctcINSgggaagggccacatggtaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88933000_88933001insG	ENST00000419291.2	-	1	25_26	c.14_15insC	c.(13-15)ccgfs	p.P5fs	PABPN1L_ENST00000378358.4_Frame_Shift_Ins_p.P5fs|PABPN1L_ENST00000411789.2_Frame_Shift_Ins_p.P5fs|PABPN1L_ENST00000427766.1_Frame_Shift_Ins_p.P5fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	5						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GAGAGCGGCTCGGGAAGGGCCA	0.688																																																	0																																										SO:0001589	frameshift_variant	0				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"RNA binding motif (RRM) containing"	37237	protein-coding gene	gene with protein product	"embryonic poly(A) binding protein 2"					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.15dupC	16.37:g.88933003_88933003dupG	ENSP00000408598:p.Pro5fs		A1L3B3|A2VDI2	Frame_Shift_Ins	INS	NULL	p.S6fs	ENST00000419291.2	37	c.15_14	CCDS45547.2	16																																																																																			PABPN1L	-	NULL	ENSG00000205022		0.688	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPN1L	HGNC	protein_coding	OTTHUMT00000407502.1		0	49	0	-	NM_001080487		88933001	-1	tier1		no_errors	ENST00000427766	ensembl	human	known	74_37	frame_shift_ins	45.83	13	11	INS	0.028:0.047	G	G	88933001	-	G	88933000	7	5	58	1	0	1	1	0	0	0	0	0	11408	871	31	0	881	0	PABPN1L	16	88933000	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	56804	88933000	1421753	1792	16175											
ANKRD11	29123	genome.wustl.edu	37	chr16	89347410	89347410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggagtagtaccctggcGacaagcaggcaaacttctcc	10	7	12	12	1	1	0	0	0	1	0	2	2	1	1	2	4	3	4	2	4	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89347410G>A	ENST00000301030.4	-	9	6000	c.5540C>T	c.(5539-5541)tCg>tTg	p.S1847L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1847L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1847	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTACCCTGGCGACAAGCAGGC	0.647																																																	0													37	40	39					16																	89347410		2198	4300	6498	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5540C>T	16.37:g.89347410G>A	ENSP00000301030:p.Ser1847Leu		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1847L	ENST00000301030.4	37	c.5540	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	g	20.3	3.971534	0.74246	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.56941	0.43;0.43	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000027	T	0.60547	0.2277	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	T	0.66208	-0.5981	10	0.87932	D	0	.	17.0206	0.86432	0.0:0.0:1.0:0.0	.	1847	Q6UB99	ANR11_HUMAN	L	1847	ENSP00000301030:S1847L;ENSP00000367581:S1847L	ENSP00000301030:S1847L	S	-	2	0	ANKRD11	87874911	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	8.476000	0.90421	2.104000	0.64026	0.457000	0.33378	TCG	ANKRD11	-	NULL	ENSG00000167522		0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0	40	0	G	NM_013275		89347410	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	A	A	89347410	G	A	89347410	3	1	58	1	0	0	0	0	1	0	0	0	639	1059	37	1	2471	1	ANKRD11	16	89347410	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	414410	89347410	1007343	1793	16176											
ANKRD11	29123	genome.wustl.edu	37	chr16	89357574	89357574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcttaatcctcttccGctcagggccctgcttctctg	3	15	6	17	1	4	0	1	0	3	0	8	0	7	0	4	1	1	2	4	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89357574G>A	ENST00000301030.4	-	5	704	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R82W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	82					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATCCTCTTCCGCTCAGGGCCC	0.607																																																	0													45	50	49					16																	89357574		2198	4300	6498	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.244C>T	16.37:g.89357574G>A	ENSP00000301030:p.Arg82Trp		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R82W	ENST00000301030.4	37	c.244	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239556	0.79800	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.50548	0.74;0.74	5.74	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.965;0.991	T	0.61028	-0.7145	10	0.87932	D	0	.	13.6953	0.62575	0.0:0.0:0.5948:0.4052	.	82;96;82	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	W	82;82;96	ENSP00000301030:R82W;ENSP00000367581:R82W	ENSP00000301030:R82W	R	-	1	2	ANKRD11	87885075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.204000	0.42761	0.705000	0.31890	-0.182000	0.12963	CGG	ANKRD11	-	NULL	ENSG00000167522		0.607	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0	41	0	G	NM_013275		89357574	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	A	A	89357574	G	A	89357574	3	1	58	1	0	0	0	0	1	0	0	0	639	1086	38	1	7783	1	ANKRD11	16	89357574	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	10164	89357574	997179	1794	16177											
SPIRE2	84501	genome.wustl.edu	37	chr16	89920954	89920954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtgaagctgaagaaggtGcaagagcaggagttcaaccc	14	5	15	7	0	1	4	1	2	0	2	1	6	1	6	1	3	4	4	1	3	5	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89920954G>A	ENST00000378247.3	+	5	829	c.786G>A	c.(784-786)gtG>gtA	p.V262V	SPIRE2_ENST00000393062.2_Silent_p.V262V	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	262	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGAAGGTGCAAGAGCAGG	0.637																																																	0													75	73	74					16																	89920954		2197	4295	6492	SO:0001819	synonymous_variant	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.786G>A	16.37:g.89920954G>A			A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.V262	ENST00000378247.3	37	c.786	CCDS32516.1	16																																																																																			SPIRE2	-	NULL	ENSG00000204991		0.637	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	-	0	51	0	G	XM_047462		89920954	1	tier1	-	no_errors	ENST00000378247	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.998	A	A	89920954	G	A	89920954	2	1	58	1	0	0	0	0	0	0	0	1	15119	1306	46	3		3	SPIRE2	16	89920954	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	563380	89920954	433799	1795	16178											
RPH3AL	9501	genome.wustl.edu	37	chr17	169327	169327	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcatggtctccagccGctccaccagccgcctgcagc	5	6	9	21	3	2	0	1	0	1	0	4	0	3	0	8	1	4	2	8	1	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:169327G>T	ENST00000331302.7	-	5	542	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	RP11-1260E13.1_ENST00000572998.1_RNA|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Silent_p.R79R|RPH3AL_ENST00000323434.8_Silent_p.R79R	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	79	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GTCTCCAGCCGCTCCACCAGC	0.637																																																	0													79	64	69					17																	169327		2199	4297	6496	SO:0001819	synonymous_variant	0				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"Synaptotagmins"	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.235C>A	17.37:g.169327G>T			D3DTG7|Q9BSB3	Silent	SNP	pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R79	ENST00000331302.7	37	c.235	CCDS10994.1	17																																																																																			RPH3AL	-	pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000181031		0.637	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPH3AL	HGNC	protein_coding	OTTHUMT00000206597.2		0	66	0	G	NM_006987		169327	-1			no_errors	ENST00000331302	ensembl	human	known	74_37	silent	6.38	44	3	SNP	1.000	T	T	169327	G	T	169327	2	4	58	1	0	0	0	0	0	0	0	1	13597	1086	38	2		2	RPH3AL	17	169327	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		169327	81025883	1796	16179											
ABR	29	genome.wustl.edu	37	chr17	916344	916344	+	Splice_Site	DEL	C	C	-																															tcattcccatccccggctcaCcccgttcatctcaatcacgt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:916344delC	ENST00000302538.5	-	17	1998		c.e17+1		ABR_ENST00000536794.2_Splice_Site|ABR_ENST00000574437.1_Splice_Site|ABR_ENST00000572441.1_Splice_Site|ABR_ENST00000543210.2_Splice_Site|ABR_ENST00000544583.2_Splice_Site|ABR_ENST00000291107.2_Splice_Site	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCCCGGCTCACCCCGTTCATC	0.637																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													223	169	187					17																	916344		2203	4300	6503	SO:0001630	splice_region_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	81	protein-coding gene	gene with protein product		600365	"active BCR-related gene"			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1851+1G>-	17.37:g.916344delC			B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Splice_Site	DEL	-	e17+1	ENST00000302538.5	37	c.1851+1	CCDS10999.1	17																																																																																			ABR	-	-	ENSG00000159842		0.637	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4		0	99	0	C		Intron	916344	-1	tier1		no_errors	ENST00000302538	ensembl	human	known	74_37	splice_site_del	33.33	48	24	DEL	1.000	-	-	916344	C	-	916344	8	5	58	1	0	1	0	1	0	0	1	0	99	521	18	0	755	0	ABR	17	916344	Splice_Site	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	747017	916344	80278866	1797	16180											
MYO1C	4641	genome.wustl.edu	37	chr17	1386310	1386310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcacagcctggtcccgacGctccgtgcgcagtgctcggt	5	8	12	16	5	1	0	1	0	0	0	4	1	3	0	3	2	3	3	3	2	0	0	rs200048542		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:1386310G>A	ENST00000575158.1	-	4	462	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MYO1C_ENST00000359786.5_Missense_Mutation_p.R131C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R107C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R96C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R112C|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	103	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGTCCCGACGCTCCGTGCGC	0.672																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	26	25	26		391,334,286	4.4	1	17		26	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	180,180,180	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	131/1064,112/1045,96/1029	1386310	3,13001	2203	4299	6502	SO:0001583	missense	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"Myosins / Myosin superfamily : Class I"	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.286C>T	17.37:g.1386310G>A	ENSP00000459174:p.Arg96Cys		Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R131C	ENST00000575158.1	37	c.391	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428657	0.43122	2.27E-4	2.33E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.43	0.53597	Myosin head, motor domain (2);	0.098876	0.64402	D	0.000005	D	0.82770	0.5109	M	0.80183	2.485	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.994	P;P;P	0.61658	0.892;0.892;0.827	T	0.82261	-0.0545	10	0.39692	T	0.17	.	10.5968	0.45343	0.0:0.0:0.6223:0.3777	.	107;131;112	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	C	131;112;112;96;107;96	ENSP00000352834:R131C;ENSP00000412197:R112C;ENSP00000354283:R96C;ENSP00000437685:R107C	ENSP00000352834:R131C	R	-	1	0	MYO1C	1333060	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	1.200000	0.32247	2.548000	0.85928	0.462000	0.41574	CGT	MYO1C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197879		0.672	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	-	0	55	0	G			1386310	-1	tier1	rs200048542	no_errors	ENST00000359786	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	A	A	1386310	G	A	1386310	3	1	58	1	0	0	0	0	1	0	0	0	10108	1087	38	1	2916	1	MYO1C	17	1386310	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	469966	1386310	79808900	1798	16181											
WDR81	124997	genome.wustl.edu	37	chr17	1619894	1619894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccgtgtagttctcagcCtgacaccgtcgttcccagaa	7	11	10	13	3	1	2	1	1	1	1	5	2	3	2	4	1	1	3	4	1	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:1619894C>A	ENST00000437219.2	+	1	78	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	MIR22HG_ENST00000362190.1_lincRNA|WDR81_ENST00000446363.1_5'Flank|WDR81_ENST00000309182.5_5'UTR	NM_001163673.1	NP_001157145.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	931					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGTTCTCAGCCTGACACCGTC	0.567																																																	0													118	113	114					17																	1619894		692	1591	2283	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000437219.2:c.25C>A	17.37:g.1619894C>A	ENSP00000391074:p.Leu9Met		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L9M	ENST00000437219.2	37	c.25	CCDS54061.1	17	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658091	0.29425	.	.	ENSG00000167716	ENST00000455636;ENST00000437219	T	0.18960	2.18	4.69	1.46	0.22682	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.18873	N	0.999989	B	0.19445	0.036	B	0.25759	0.063	T	0.32322	-0.9911	9	0.42905	T	0.14	.	2.9197	0.05765	0.1786:0.5327:0.1874:0.1013	.	9	B7Z579	.	M	9	ENSP00000391074:L9M	ENSP00000391074:L9M	L	+	1	2	WDR81	1566644	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.058000	0.14301	0.170000	0.19704	0.561000	0.74099	CTG	WDR81	-	NULL	ENSG00000167716		0.567	WDR81-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR81	HGNC	protein_coding		-	0	41	0	C	NM_152348		1619894	1	tier1	-	no_errors	ENST00000437219	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.000	A	A	1619894	C	A	1619894	3	1	58	1	0	0	0	0	1	0	0	0	17379	680	24	3	27	3	WDR81	17	1619894	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	233584	1619894	79575316	1799	16182											
RPA1	6117	genome.wustl.edu	37	chr17	1783946	1783946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaagcactatcattgCgaatcctgacatcccagagg	11	10	8	12	1	3	2	2	1	1	1	5	3	5	2	2	1	2	1	2	1	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:1783946C>T	ENST00000254719.5	+	12	1312	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	401					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)	p.A401V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACTATCATTGCGAATCCTGAC	0.502								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	endometrium(1)											110	106	108					17																	1783946		2203	4300	6503	SO:0001583	missense	0			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"replication protein A1 (70kD)"			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1202C>T	17.37:g.1783946C>T	ENSP00000254719:p.Ala401Val		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	p.A401V	ENST00000254719.5	37	c.1202	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	C	4.398	0.073527	0.08485	.	.	ENSG00000132383	ENST00000254719	T	0.14640	2.49	5.83	3.51	0.40186	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.640625	0.17251	N	0.181178	T	0.02455	0.0075	N	0.00099	-2.14	0.26263	N	0.978542	B	0.02656	0.0	B	0.01281	0.0	T	0.40440	-0.9563	10	0.07813	T	0.8	-0.0733	10.0111	0.41986	0.0:0.1383:0.0:0.8617	.	401	P27694	RFA1_HUMAN	V	401	ENSP00000254719:A401V	ENSP00000254719:A401V	A	+	2	0	RPA1	1730696	0.999000	0.42202	0.813000	0.32504	0.543000	0.35085	2.601000	0.46249	0.463000	0.27118	-0.423000	0.05987	GCG	RPA1	-	superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	ENSG00000132383		0.502	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	-	0	50	0	C	NM_002945		1783946	1	tier1	-	no_errors	ENST00000254719	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.990	T	T	1783946	C	T	1783946	3	4	58	1	0	0	0	0	1	0	0	0	13581	768	27	1	1248	1	RPA1	17	1783946	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	164052	1783946	79411264	1800	16183											
KIAA0664	23277	genome.wustl.edu	37	chr17	2606773	2606774	+	Frame_Shift_Ins	INS	-	-	G																															aatctcctgcaccatctcctINSggggggacacctgcagggag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:2606773_2606774insG	ENST00000570628.2	-	3	304_305	c.199_200insC	c.(199-201)cagfs	p.Q67fs	CLUH_ENST00000538975.1_Frame_Shift_Ins_p.Q67fs|CLUH_ENST00000435359.1_Frame_Shift_Ins_p.Q67fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	67					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CACCATCTCCTGGGGGGACACC	0.663																																																	0																																										SO:0001589	frameshift_variant	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.200dupC	17.37:g.2606779_2606779dupG	ENSP00000458986:p.Gln67fs		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Ins	INS	superfamily_GSKIP_dom	p.Q67fs	ENST00000570628.2	37	c.200_199	CCDS45572.1	17																																																																																			CLUH	-	NULL	ENSG00000132361		0.663	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	HGNC	protein_coding	OTTHUMT00000437807.2		0	53	0	-	NM_015229		2606774	-1	tier1		no_errors	ENST00000435359	ensembl	human	known	74_37	frame_shift_ins	26.83	30	11	INS	1.000:1.000	G	G	2606774	-	G	2606773	7	5	58	1	0	1	1	0	0	0	0	0	8216	1580	55	0	3825	0	KIAA0664	17	2606773	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	822827	2606773	78588437	1801	16184											
CTNS	1497	genome.wustl.edu	37	chr17	3559997	3559997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctcaaataccccaacGgagtgaaccccgtgaacagc	12	7	7	15	2	2	2	1	2	1	0	3	3	2	3	5	1	5	0	5	1	5	2	rs113994207		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:3559997G>A	ENST00000046640.3	+	9	1182	c.589G>A	c.(589-591)Gga>Aga	p.G197R	CTNS_ENST00000414524.2_Missense_Mutation_p.G50R|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Missense_Mutation_p.G89R|CTNS_ENST00000381870.3_Missense_Mutation_p.G197R	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	197			G -> R (in CTNSANN).		adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ATACCCCAACGGAGTGAACCC	0.592																																																	0			GRCh37	CM992865	CTNS	M	rs113994207						172	142	152					17																	3559997		2203	4300	6503	SO:0001583	missense	0			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"cystinosis, nephropathic"			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.589G>A	17.37:g.3559997G>A	ENSP00000046640:p.Gly197Arg		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	smart_CTNS,tigrfam_LC_transporter	p.G197R	ENST00000046640.3	37	c.589	CCDS11031.1	17	.	.	.	.	.	.	.	.	.	.	g	28.5	4.929413	0.92389	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.97114	-3.87;-3.89;-4.25;-4.08	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.86740	2.835	0.80722	A	1	D;P;D	0.89917	1.0;0.953;1.0	D;B;D	0.80764	0.989;0.259;0.994	D	0.99078	1.0836	9	0.52906	T	0.07	-11.8618	17.4852	0.87685	0.0:0.0:1.0:0.0	.	89;197;197	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	R	197;197;89;50	ENSP00000046640:G197R;ENSP00000371294:G197R;ENSP00000411465:G89R;ENSP00000395471:G50R	ENSP00000046640:G197R	G	+	1	0	CTNS	3506746	1.000000	0.71417	0.883000	0.34634	0.805000	0.45488	9.076000	0.94009	2.467000	0.83353	0.486000	0.48141	GGA	CTNS	-	tigrfam_LC_transporter	ENSG00000040531		0.592	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	-	0	44	0	G	NM_004937		3559997	1	tier1	rs113994207	no_errors	ENST00000381870	ensembl	human	known	74_37	missense	35.00	26	14	SNP	0.998	A	A	3559997	G	A	3559997	3	1	58	1	0	0	0	0	1	0	0	0	4030	1117	39	1	615	1	CTNS	17	3559997	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	953224	3559997	77635213	1802	16185											
ANKFY1	51479	genome.wustl.edu	37	chr17	4071196	4071196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatggcaaagaagacgtccGcagtgacgactgtggaagca	13	7	13	8	3	0	3	0	1	0	2	1	5	1	4	1	2	1	3	1	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4071196G>A	ENST00000341657.4	-	25	3422	c.3387C>T	c.(3385-3387)tgC>tgT	p.C1129C	ANKFY1_ENST00000570535.1_Silent_p.C1171C|ANKFY1_ENST00000574367.1_Silent_p.C1130C|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1129					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GAAGACGTCCGCAGTGACGAC	0.498																																																	0													58	62	61					17																	4071196		1970	4155	6125	SO:0001819	synonymous_variant	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"Zinc fingers, FYVE domain containing", "BTB/POZ domain containing", "Ankyrin repeat domain containing"	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3387C>T	17.37:g.4071196G>A			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.C1171	ENST00000341657.4	37	c.3513		17																																																																																			ANKFY1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000185722		0.498	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	-	0	25	0	G	NM_016376		4071196	-1	tier1	-	no_errors	ENST00000570535	ensembl	human	known	74_37	silent	25.00	24	8	SNP	1.000	A	A	4071196	G	A	4071196	2	1	58	1	0	0	0	0	0	0	0	1	626	1079	38	1		1	ANKFY1	17	4071196	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	511199	4071196	77124014	1803	16186											
ZMYND15	84225	genome.wustl.edu	37	chr17	4646651	4646651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcctctcggggcctcActcgtggctattggacccag	4	10	12	15	2	2	0	1	0	1	0	5	1	3	1	4	5	0	1	4	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4646651A>G	ENST00000433935.1	+	6	1255	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A	ZMYND15_ENST00000573751.2_Missense_Mutation_p.T400A|ZMYND15_ENST00000592813.1_Missense_Mutation_p.T400A|ZMYND15_ENST00000269289.6_Missense_Mutation_p.T400A	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	400					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCGGGGCCTCACTCGTGGCTA	0.612																																																	0													125	133	130					17																	4646651		2203	4300	6503	SO:0001583	missense	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"Zinc fingers, MYND-type"	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1198A>G	17.37:g.4646651A>G	ENSP00000391742:p.Thr400Ala		B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.T400A	ENST00000433935.1	37	c.1198	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577068	0.65878	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48201	0.9;0.82	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000012	T	0.56499	0.1989	L	0.44542	1.39	0.36744	D	0.882378	D;D	0.65815	0.995;0.982	D;D	0.73380	0.98;0.952	T	0.55405	-0.8146	10	0.09084	T	0.74	-11.581	14.0058	0.64463	1.0:0.0:0.0:0.0	.	400;400	B4DXY5;Q9H091	.;ZMY15_HUMAN	A	400	ENSP00000391742:T400A;ENSP00000269289:T400A	ENSP00000269289:T400A	T	+	1	0	ZMYND15	4593400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.759000	0.68785	2.181000	0.69327	0.460000	0.39030	ACT	ZMYND15	-	NULL	ENSG00000141497		0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	-	0	64	0	A	NM_032265		4646651	1	tier1	-	no_errors	ENST00000433935	ensembl	human	known	74_37	missense	30.51	40	18	SNP	1.000	G	G	4646651	A	G	4646651	3	3	58	1	0	0	0	0	1	0	0	0	17756	159	6	4	1216	4	ZMYND15	17	4646651	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	575455	4646651	76548559	1804	16187											
C17orf107	100130311	genome.wustl.edu	37	chr17	4803728	4803728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctatgcctgtgtggacGgggtctgcaggggtctgcct	4	11	17	9	1	2	0	0	0	2	0	2	1	2	1	2	6	3	2	2	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4803728G>A	ENST00000381365.3	+	3	700	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	CHRNE_ENST00000575637.1_5'Flank|C17orf107_ENST00000521575.1_3'UTR|CHRNE_ENST00000293780.4_Intron	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107	158										endometrium(2)	2						CTGTGTGGACGGGGTCTGCAG	0.672																																																	0													23	30	28					17																	4803728		692	1591	2283	SO:0001583	missense	0			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838	ENST00000381365.3:c.473G>A	17.37:g.4803728G>A	ENSP00000370770:p.Arg158Gln			Missense_Mutation	SNP	NULL	p.R158Q	ENST00000381365.3	37	c.473	CCDS45591.1	17	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504843	0.44558	.	.	ENSG00000205710	ENST00000381365	.	.	.	4.32	3.34	0.38264	.	0.301827	0.18510	N	0.139083	T	0.18841	0.0452	N	0.24115	0.695	0.09310	N	1	P	0.36874	0.572	B	0.23716	0.048	T	0.09975	-1.0650	9	0.45353	T	0.12	-10.5032	7.9736	0.30143	0.1129:0.0:0.8871:0.0	.	158	Q6ZR85	CQ107_HUMAN	Q	158	.	ENSP00000370770:R158Q	R	+	2	0	C17orf107	4744507	0.771000	0.28555	0.306000	0.25113	0.415000	0.31203	2.906000	0.48735	1.024000	0.39682	0.491000	0.48974	CGG	C17orf107	-	NULL	ENSG00000205710		0.672	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf107	HGNC	protein_coding	OTTHUMT00000380556.1	-	0	70	0	G	NM_001145536		4803728	1	tier1	-	no_errors	ENST00000381365	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.012	A	A	4803728	G	A	4803728	3	1	58	1	0	0	0	0	1	0	0	0	1857	1116	39	1	483	1	C17orf107	17	4803728	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	157077	4803728	76391482	1805	16188											
NUP88	4927	genome.wustl.edu	37	chr17	5294889	5294889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgggacgtacaataacggCcatatgaggcattcataggt	14	9	11	7	2	1	1	1	1	0	0	1	2	1	2	1	4	2	2	1	4	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:5294889C>A	ENST00000573584.1	-	10	1985	c.1476G>T	c.(1474-1476)tgG>tgT	p.W492C		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	492					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ACAATAACGGCCATATGAGGC	0.428																																																	0													139	117	124					17																	5294889		2203	4300	6503	SO:0001583	missense	0			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1476G>T	17.37:g.5294889C>A	ENSP00000458954:p.Trp492Cys		D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.W492C	ENST00000573584.1	37	c.1476	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	C	5.308	0.242209	0.10077	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.76	0.252	0.15545	.	0.260013	0.37095	N	0.002253	T	0.25531	0.0621	N	0.08118	0	0.40058	D	0.97586	B;B;B	0.33826	0.001;0.004;0.427	B;B;B	0.40565	0.002;0.002;0.333	T	0.03684	-1.1013	9	0.37606	T	0.19	-4.9301	4.3899	0.11335	0.155:0.569:0.0:0.276	.	492;361;492	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	C	492;361	.	ENSP00000225696:W492C	W	-	3	0	NUP88	5235613	0.997000	0.39634	0.640000	0.29408	0.009000	0.06853	0.683000	0.25349	-0.001000	0.14495	0.591000	0.81541	TGG	NUP88	-	pfam_Nucleoporin_Nup88	ENSG00000108559		0.428	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	-	0	73	0	C	NM_002532		5294889	-1	tier1	-	no_errors	ENST00000573584	ensembl	human	known	74_37	missense	40.35	33	23	SNP	0.995	A	A	5294889	C	A	5294889	3	1	58	1	0	0	0	0	1	0	0	0	10810	740	26	3	781	3	NUP88	17	5294889	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	491161	5294889	75900321	1806	16189											
DLG4	1742	genome.wustl.edu	37	chr17	7095249	7095249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggcggatgaagatggCgatggggtgcaggtgggccg	6	5	24	6	4	0	2	0	1	0	1	0	4	0	3	1	8	1	1	1	8	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7095249C>T	ENST00000399506.2	-	18	2130	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	DLG4_ENST00000302955.6_Missense_Mutation_p.A644T|DLG4_ENST00000399510.2_Missense_Mutation_p.A690T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	647	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	ATGAAGATGGCGATGGGGTGC	0.687																																																	0													40	50	47					17																	7095249		2001	4149	6150	SO:0001583	missense	0			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1939G>A	17.37:g.7095249C>T	ENSP00000382425:p.Ala647Thr		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A690T	ENST00000399506.2	37	c.2068		17	.	.	.	.	.	.	.	.	.	.	C	31	5.079695	0.94050	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912	T;T;T	0.44482	0.92;0.92;0.92	5.31	5.31	0.75309	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.54967	0.1891	L	0.58510	1.815	0.80722	D	1	D;P;P;P	0.60160	0.987;0.546;0.812;0.611	P;P;P;B	0.55577	0.779;0.603;0.567;0.351	T	0.54516	-0.8282	9	0.52906	T	0.07	.	16.5188	0.84308	0.0:1.0:0.0:0.0	.	687;647;644;690	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	T	647;644;690;690;587	ENSP00000382425:A647T;ENSP00000307471:A644T;ENSP00000382428:A690T	ENSP00000293813:A690T	A	-	1	0	DLG4	7035973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.859000	0.69539	2.755000	0.94549	0.650000	0.86243	GCC	DLG4	-	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000132535		0.687	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	-	0	39	0	C	NM_001365		7095249	-1	tier1	-	no_errors	ENST00000399510	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T	T	7095249	C	T	7095249	3	4	58	1	0	0	0	0	1	0	0	0	4571	768	27	1	247	1	DLG4	17	7095249	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1800360	7095249	74099961	1807	16190											
DVL2	1856	genome.wustl.edu	37	chr17	7129207	7129207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataacatccacaaagaactCgctgggattgcccatggcca	13	7	8	13	1	0	1	0	0	0	1	2	2	1	2	3	2	3	1	3	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7129207C>T	ENST00000005340.5	-	15	2470	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	DVL2_ENST00000575458.1_Missense_Mutation_p.E724K|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	730					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						ACAAAGAACTCGCTGGGATTG	0.637																																																	0													52	60	57					17																	7129207		2200	4297	6497	SO:0001583	missense	0			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"Dishevelled homologs"	3086	protein-coding gene	gene with protein product		602151	"dishevelled 2 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 2 (Drosophila)"			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2188G>A	17.37:g.7129207C>T	ENSP00000005340:p.Glu730Lys		D3DTN3|Q53XM0	Missense_Mutation	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.E730K	ENST00000005340.5	37	c.2188	CCDS11091.1	17	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678159	0.68042	.	.	ENSG00000004975	ENST00000005340	T	0.07327	3.2	5.87	4.85	0.62838	.	0.114616	0.56097	D	0.000022	T	0.12518	0.0304	L	0.59436	1.845	0.54753	D	0.999989	D;D	0.61080	0.989;0.989	B;B	0.44133	0.442;0.442	T	0.00695	-1.1606	10	0.62326	D	0.03	-21.7945	14.2011	0.65705	0.0:0.8493:0.1507:0.0	.	724;730	B4DLQ0;O14641	.;DVL2_HUMAN	K	730	ENSP00000005340:E730K	ENSP00000005340:E730K	E	-	1	0	DVL2	7069931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.732000	0.68563	2.781000	0.95711	0.655000	0.94253	GAG	DVL2	-	NULL	ENSG00000004975		0.637	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2	-	0	73	0	C	NM_004422		7129207	-1	tier1	-	no_errors	ENST00000005340	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	T	T	7129207	C	T	7129207	3	4	58	1	0	0	0	0	1	0	0	0	4850	893	31	1	26	1	DVL2	17	7129207	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	33958	7129207	74066003	1808	16191											
SPEM1	374768	genome.wustl.edu	37	chr17	7324849	7324849	+	Frame_Shift_Del	DEL	C	C	-																															gaggccctgtccggctgctaCcccctagcctctggatccag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7324849delC	ENST00000323675.3	+	3	880	c.855delC	c.(853-855)tacfs	p.Y285fs	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	285					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.Y285*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGGCTGCTACCCCCTAGCCT	0.592																																																	1	Substitution - Nonsense(1)	lung(1)											26	30	29					17																	7324849		1954	4139	6093	SO:0001589	frameshift_variant	0			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"chromosome 17 open reading frame 83"	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.855delC	17.37:g.7324849delC	ENSP00000315554:p.Tyr285fs			Frame_Shift_Del	DEL	NULL	p.L287fs	ENST00000323675.3	37	c.855	CCDS42254.1	17																																																																																			SPEM1	-	NULL	ENSG00000181323		0.592	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEM1	HGNC	protein_coding	OTTHUMT00000440932.1		0	36	0	C	NM_199339		7324849	1	tier1		no_errors	ENST00000323675	ensembl	human	known	74_37	frame_shift_del	34.15	27	14	DEL	0.492	-	-	7324849	C	-	7324849	7	5	58	1	0	1	0	1	0	0	0	0	15084	518	18	0	865	0	SPEM1	17	7324849	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	195642	7324849	73870361	1809	16192											
KDM6B	23135	genome.wustl.edu	37	chr17	7750429	7750429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatctcctataggagcagCggcactcgctgcctcaccca	8	10	8	15	2	2	0	1	0	1	0	4	1	2	1	3	2	3	3	3	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7750429C>T	ENST00000448097.2	+	10	1247	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	KDM6B_ENST00000254846.5_Missense_Mutation_p.R306W			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	306	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ATAGGAGCAGCGGCACTCGCT	0.642																																																	0													50	59	56					17																	7750429		2200	4297	6497	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.916C>T	17.37:g.7750429C>T	ENSP00000412513:p.Arg306Trp		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R306W	ENST00000448097.2	37	c.916		17	.	.	.	.	.	.	.	.	.	.	C	13.01	2.107921	0.37242	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08370	3.1;3.1	5.36	5.36	0.76844	.	0.333481	0.25938	N	0.027327	T	0.13243	0.0321	N	0.14661	0.345	0.35830	D	0.825204	D	0.71674	0.998	D	0.66196	0.942	T	0.12630	-1.0540	10	0.87932	D	0	-14.8785	12.0216	0.53346	0.1724:0.8276:0.0:0.0	.	306	O15054-1	.	W	306	ENSP00000254846:R306W;ENSP00000412513:R306W	ENSP00000254846:R306W	R	+	1	2	KDM6B	7691154	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.063000	0.41423	2.688000	0.91661	0.561000	0.74099	CGG	KDM6B	-	NULL	ENSG00000132510		0.642	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	-	0	31	0	C	XM_043272		7750429	1	tier1	-	no_errors	ENST00000254846	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	T	T	7750429	C	T	7750429	3	4	58	1	0	0	0	0	1	0	0	0	8165	759	27	1	942	1	KDM6B	17	7750429	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	425580	7750429	73444781	1810	16193											
CHD3	1107	genome.wustl.edu	37	chr17	7797811	7797811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattactgtgaggtgtGccagcagggtggggaaatta	10	9	16	6	0	0	1	0	1	0	0	0	3	0	3	2	5	3	1	2	5	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7797811G>A	ENST00000330494.7	+	8	1304	c.1154G>A	c.(1153-1155)tGc>tAc	p.C385Y	CHD3_ENST00000380358.4_Missense_Mutation_p.C444Y|CHD3_ENST00000358181.4_Missense_Mutation_p.C385Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	385					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGTGAGGTGTGCCAGCAGGGT	0.597																																																	0													169	125	140					17																	7797811		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1154G>A	17.37:g.7797811G>A	ENSP00000332628:p.Cys385Tyr		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.C385Y	ENST00000330494.7	37	c.1154	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106321	0.56291	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.99954	-8.82;-8.82;-8.82	4.47	4.47	0.54385	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.130969	0.35466	N	0.003194	D	0.99967	0.9988	H	0.98754	4.32	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.83275	0.994;0.996;0.996	D	0.96495	0.9367	10	0.87932	D	0	-12.2825	17.3374	0.87286	0.0:0.0:1.0:0.0	.	385;385;444	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Y	444;385;385	ENSP00000369716:C444Y;ENSP00000350907:C385Y;ENSP00000332628:C385Y	ENSP00000332628:C385Y	C	+	2	0	CHD3	7738536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.706000	0.84615	2.315000	0.78130	0.557000	0.71058	TGC	CHD3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000170004		0.597	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0	73	0	G	NM_001005273		7797811	1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	39.34	37	24	SNP	1.000	A	A	7797811	G	A	7797811	3	1	58	1	0	0	0	0	1	0	0	0	3333	1319	46	3	1465	3	CHD3	17	7797811	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	47382	7797811	73397399	1811	16194											
PER1	5187	genome.wustl.edu	37	chr17	8046844	8046844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagcaggggtctggagtgCcccataaggatagctggatg	9	9	15	8	0	2	0	1	0	1	0	2	3	2	3	2	5	3	2	2	5	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8046844C>T	ENST00000317276.4	-	19	3049	c.2812G>A	c.(2812-2814)Gca>Aca	p.A938T	PER1_ENST00000581082.1_Missense_Mutation_p.A915T|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	938	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTCTGGAGTGCCCCATAAGGA	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													22	13	16					17																	8046844		2195	4297	6492	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2812G>A	17.37:g.8046844C>T	ENSP00000314420:p.Ala938Thr		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.A938T	ENST00000317276.4	37	c.2812	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	3.608	-0.080227	0.07141	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.26	5.26	0.73747	.	0.735214	0.12330	N	0.478501	T	0.11537	0.0281	N	0.25485	0.75	0.35995	D	0.836987	B	0.16603	0.018	B	0.14023	0.01	T	0.18587	-1.0332	10	0.20519	T	0.43	-1.2622	14.3646	0.66799	0.0:1.0:0.0:0.0	.	938	O15534	PER1_HUMAN	T	938	ENSP00000314420:A938T	ENSP00000314420:A938T	A	-	1	0	PER1	7987569	0.000000	0.05858	0.785000	0.31869	0.056000	0.15407	0.351000	0.20096	2.459000	0.83118	0.563000	0.77884	GCA	PER1	-	NULL	ENSG00000179094		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	-	0	25	0	C			8046844	-1	tier1	-	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	46.67	8	7	SNP	0.258	T	T	8046844	C	T	8046844	3	4	58	1	0	0	0	0	1	0	0	0	11768	739	26	3	1080	3	PER1	17	8046844	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	249033	8046844	73148366	1812	16195											
PER1	5187	genome.wustl.edu	37	chr17	8052896	8052896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaccccggaacacgtccCgcttgcaacgcagcaggacg	9	4	13	15	5	0	0	0	0	0	0	1	2	1	2	3	3	5	5	3	3	3	2	rs139250084	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8052896C>T	ENST00000317276.4	-	6	974	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	PER1_ENST00000581082.1_Missense_Mutation_p.R226Q|PER1_ENST00000354903.5_Missense_Mutation_p.R230Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	246	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAACACGTCCCGCTTGCAACG	0.627			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					C|||	2	0.000399361	0.0015	0	5008	,	,		19351	0		0	False		,,,				2504	0							Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								C	GLN/ARG	2,4400		0,2,2199	38	39	39		737	1	1	17	dbSNP_134	39	0,8594		0,0,4297	yes	missense	PER1	NM_002616.2	43	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	246/1291	8052896	2,12994	2201	4297	6498	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.737G>A	17.37:g.8052896C>T	ENSP00000314420:p.Arg246Gln		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.R246Q	ENST00000317276.4	37	c.737	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955025	0.53293	4.54E-4	0.0	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.37752	2.52;1.18	5.55	0.98	0.19750	PAS (1);	0.275098	0.35772	N	0.002984	T	0.22820	0.0551	L	0.39898	1.24	0.34119	D	0.663958	B;B;B	0.25312	0.001;0.012;0.123	B;B;B	0.15870	0.001;0.003;0.014	T	0.14699	-1.0463	10	0.46703	T	0.11	-11.9622	4.9065	0.13800	0.0:0.526:0.1472:0.3268	.	246;230;246	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	Q	246;230	ENSP00000314420:R246Q;ENSP00000346979:R230Q	ENSP00000314420:R246Q	R	-	2	0	PER1	7993621	0.011000	0.17503	1.000000	0.80357	0.960000	0.62799	-0.230000	0.09083	0.711000	0.32018	0.563000	0.77884	CGG	PER1	-	superfamily_PAS,smart_PAS	ENSG00000179094		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	-	0	70	0	C			8052896	-1	tier1	rs139250084	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	38.81	41	26	SNP	0.975	T	T	8052896	C	T	8052896	3	4	58	1	0	0	0	0	1	0	0	0	11768	652	23	1	3207	1	PER1	17	8052896	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6052	8052896	73142314	1813	16196											
C17orf68	80169	genome.wustl.edu	37	chr17	8132624	8132624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccctcccttacctgcCggcagatgctggtacaataa	8	11	7	15	1	0	1	0	0	0	1	3	1	3	1	5	2	4	3	5	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8132624C>T	ENST00000315684.8	-	19	3159	c.3152G>A	c.(3151-3153)cGg>cAg	p.R1051Q		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1051					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCTTACCTGCCGGCAGATGCT	0.547																																																	0													144	150	148					17																	8132624		2069	4207	6276	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3152G>A	17.37:g.8132624C>T	ENSP00000313759:p.Arg1051Gln		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.R1051Q	ENST00000315684.8	37	c.3152	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453622	0.26161	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82893	-1.66;-1.66	4.92	-4.99	0.03010	.	1.383230	0.04218	N	0.332976	T	0.62962	0.2471	N	0.14661	0.345	0.09310	N	1	B	0.26809	0.16	B	0.21917	0.037	T	0.49725	-0.8909	10	0.24483	T	0.36	-0.0087	2.5158	0.04667	0.4913:0.1245:0.2598:0.1244	.	1051	Q2NKJ3	CTC1_HUMAN	Q	1051;1016	ENSP00000313759:R1051Q;ENSP00000396018:R1016Q	ENSP00000313759:R1051Q	R	-	2	0	CTC1	8073349	0.000000	0.05858	0.039000	0.18376	0.847000	0.48162	-1.577000	0.02127	-1.003000	0.03425	-0.133000	0.14855	CGG	CTC1	-	NULL	ENSG00000178971		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	-	0	63	0	C	NM_025099		8132624	-1	tier1	-	no_errors	ENST00000315684	ensembl	human	known	74_37	missense	52.46	29	32	SNP	0.236	T	T	8132624	C	T	8132624	3	4	58	1	0	0	0	0	1	0	0	0	1882	652	23	1	521	1	C17orf68	17	8132624	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	79728	8132624	73062586	1814	16197											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C																															ttcttcaggcacccccaatgINScccccccaccctaatgcagg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)gccfs	p.A838fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.A838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2519dupC	17.37:g.8224304_8224304dupC	ENSP00000355026:p.Ala838fs		A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P841fs	ENST00000361926.3	37	c.2512_2513	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.574	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2		0	28	0	-	NM_173728		8224298	1	tier1		no_errors	ENST00000361926	ensembl	human	known	74_37	frame_shift_ins	20.00	20	5	INS	0.000:0.001	C	C	8224298	-	C	8224297	7	5	58	1	0	1	1	0	0	0	0	0	898	1319	46	0	2570	0	ARHGEF15	17	8224297	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	91673	8224297	72970913	1815	16198											
PIK3R6	146850	genome.wustl.edu	37	chr17	8736327	8736327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggcggccaccacggcGtggaaatagtgctccagggt	9	6	14	12	3	0	0	0	0	0	0	2	1	2	1	4	5	1	1	4	5	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8736327G>A	ENST00000311434.9	-	9	920	c.681C>T	c.(679-681)caC>caT	p.H227H	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	227					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCACCACGGCGTGGAAATAGT	0.687																																																	0													16	20	19					17																	8736327		1997	4149	6146	SO:0001819	synonymous_variant	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.681C>T	17.37:g.8736327G>A			Q658R3	Silent	SNP	pfam_PI3K_1B_gamma_p101_su	p.H227	ENST00000311434.9	37	c.681		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.687	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0	48	0	G	NM_001010855		8736327	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	silent	28.95	27	11	SNP	0.978	A	A	8736327	G	A	8736327	2	1	58	1	0	0	0	0	0	0	0	1	11962	1136	40	1		1	PIK3R6	17	8736327	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	512030	8736327	72458883	1816	16199											
PIK3R6	146850	genome.wustl.edu	37	chr17	8741940	8741940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttaccgggatctcgctCgaccttcttgtgcagggacc	5	11	11	14	3	3	0	0	0	3	0	5	3	3	2	3	2	2	3	3	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8741940C>T	ENST00000311434.9	-	4	369	c.130G>A	c.(130-132)Gag>Aag	p.E44K	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	44					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GGATCTCGCTCGACCTTCTTG	0.597																																																	0													39	41	41					17																	8741940		1952	4119	6071	SO:0001583	missense	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.130G>A	17.37:g.8741940C>T	ENSP00000475670:p.Glu44Lys		Q658R3	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.E44K	ENST00000311434.9	37	c.130		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.597	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0	19	0	C	NM_001010855		8741940	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.984	T	T	8741940	C	T	8741940	3	4	58	1	0	0	0	0	1	0	0	0	11962	893	31	1	2201	1	PIK3R6	17	8741940	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5613	8741940	72453270	1817	16200											
MYH13	8735	genome.wustl.edu	37	chr17	10216613	10216613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcctcatactgttccCgcagcaggtcacagtcgtgg	6	10	10	15	2	2	0	2	0	0	0	6	0	5	0	3	2	2	4	3	2	1	2	rs200236843		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:10216613C>A	ENST00000418404.3	-	29	4206	c.4043G>T	c.(4042-4044)cGg>cTg	p.R1348L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1348L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1348					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATACTGTTCCCGCAGCAGGTC	0.597																																																	0													136	123	128					17																	10216613		2203	4298	6501	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4043G>T	17.37:g.10216613C>A	ENSP00000404570:p.Arg1348Leu		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1348L	ENST00000418404.3	37	c.4043	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961176	0.92791	.	.	ENSG00000006788	ENST00000252172	D	0.84370	-1.84	3.95	3.95	0.45737	Myosin tail (1);	.	.	.	.	D	0.94142	0.8121	M	0.94021	3.485	0.43377	D	0.995471	D	0.89917	1.0	D	0.91635	0.999	D	0.95843	0.8868	9	0.87932	D	0	.	16.5503	0.84471	0.0:1.0:0.0:0.0	.	1348	Q9UKX3	MYH13_HUMAN	L	1348	ENSP00000252172:R1348L	ENSP00000252172:R1348L	R	-	2	0	MYH13	10157338	0.951000	0.32395	1.000000	0.80357	0.988000	0.76386	7.531000	0.81973	2.202000	0.70862	0.455000	0.32223	CGG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.597	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	110	0	C	NM_003802		10216613	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	24.18	68	22	SNP	1.000	A	A	10216613	C	A	10216613	3	1	58	1	0	0	0	0	1	0	0	0	10070	652	23	2	1821	2	MYH13	17	10216613	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1474673	10216613	70978597	1818	16201											
MYH4	4622	genome.wustl.edu	37	chr17	10356509	10356509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggttttagctttggtcAgggtgttgactttgtcctcc	3	18	12	8	0	1	1	1	1	0	0	3	1	3	1	2	3	1	4	2	3	1	6	rs150138598		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:10356509A>G	ENST00000255381.2	-	24	3181	c.3071T>C	c.(3070-3072)cTg>cCg	p.L1024P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1024					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCTTTGGTCAGGGTGTTGAC	0.463																																																	0								A	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	338	302	315		3071	5.3	1	17	dbSNP_134	315	0,8600		0,0,4300	no	missense	MYH4	NM_017533.2	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1024/1940	10356509	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3071T>C	17.37:g.10356509A>G	ENSP00000255381:p.Leu1024Pro			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1024P	ENST00000255381.2	37	c.3071	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708394	0.68615	2.27E-4	0.0	ENSG00000141048	ENST00000255381	D	0.92099	-2.97	5.28	5.28	0.74379	.	0.000000	0.30085	U	0.010453	D	0.97570	0.9204	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99091	1.0840	10	0.87932	D	0	.	15.5054	0.75735	1.0:0.0:0.0:0.0	.	1024	Q9Y623	MYH4_HUMAN	P	1024	ENSP00000255381:L1024P	ENSP00000255381:L1024P	L	-	2	0	MYH4	10297234	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.163000	0.94750	2.116000	0.64780	0.533000	0.62120	CTG	MYH4	-	NULL	ENSG00000264424		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0	208	0	A	NM_017533		10356509	-1	tier1	rs150138598	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	35.27	145	79	SNP	1.000	G	G	10356509	A	G	10356509	3	3	58	1	0	0	0	0	1	0	0	0	10075	188	7	4	2816	4	MYH4	17	10356509	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	139896	10356509	70838701	1819	16202											
MYH4	4622	genome.wustl.edu	37	chr17	10370033	10370033	+	Frame_Shift_Del	DEL	A	A	-																															aggaaaggagcagcctccccAaaaatggccatctcagagtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:10370033delA	ENST00000255381.2	-	3	140	c.30delT	c.(28-30)tttfs	p.F10fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	10					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAGCCTCCCCAAAAATGGCCA	0.468																																																	0													86	79	81					17																	10370033		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.30delT	17.37:g.10370033delA	ENSP00000255381:p.Phe10fs			Frame_Shift_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F10fs	ENST00000255381.2	37	c.30	CCDS11154.1	17																																																																																			MYH4	-	NULL	ENSG00000264424		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1		0	40	0	A	NM_017533		10370033	-1	tier1		no_errors	ENST00000255381	ensembl	human	known	74_37	frame_shift_del	32.00	34	16	DEL	1.000	-	-	10370033	A	-	10370033	7	5	58	1	0	1	0	1	0	0	0	0	10075	127	5	0	5941	0	MYH4	17	10370033	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	13524	10370033	70825177	1820	16203											
DNAH9	1770	genome.wustl.edu	37	chr17	11738145	11738145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagaagcagaaggactGtgaggaggacctggcaaagg	16	3	16	6	0	0	3	0	1	0	2	0	7	0	6	1	5	2	2	1	5	4	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:11738145G>T	ENST00000262442.4	+	49	9505	c.9437G>T	c.(9436-9438)tGt>tTt	p.C3146F	DNAH9_ENST00000454412.2_Missense_Mutation_p.C3146F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3146	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C3146Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAAGGACTGTGAGGAGGAC	0.547																																																	1	Substitution - Missense(1)	lung(1)											147	103	118					17																	11738145		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9437G>T	17.37:g.11738145G>T	ENSP00000262442:p.Cys3146Phe		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C3146F	ENST00000262442.4	37	c.9437	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340263	0.81911	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.81163	-1.46;-1.46	5.17	5.17	0.71159	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95957	0.8959	10	0.87932	D	0	.	18.8759	0.92334	0.0:0.0:1.0:0.0	.	3146	Q9NYC9	DYH9_HUMAN	F	3146;3146;1728	ENSP00000262442:C3146F;ENSP00000414874:C3146F	ENSP00000262442:C3146F	C	+	2	0	DNAH9	11678870	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.087000	0.71362	2.683000	0.91414	0.655000	0.94253	TGT	DNAH9	-	superfamily_P-loop_NTPase	ENSG00000007174		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	26	0	G	NM_001372		11738145	1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	11738145	G	T	11738145	3	4	58	1	0	0	0	0	1	0	0	0	4622	1377	48	3	9631	3	DNAH9	17	11738145	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1368112	11738145	69457065	1821	16204											
MPRIP	23164	genome.wustl.edu	37	chr17	17035001	17035001	+	Frame_Shift_Del	DEL	C	C	-																															agaagaaacggaaagtggagCcccccacaccacaggtaggc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17035001delC	ENST00000341712.4	+	5	490	c.490delC	c.(490-492)cccfs	p.P165fs	MPRIP_ENST00000395811.5_Frame_Shift_Del_p.P165fs|MPRIP_ENST00000395804.3_Frame_Shift_Del_p.P165fs|MPRIP_ENST00000444976.1_Frame_Shift_Del_p.P165fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	165	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAAGTGGAGCCCCCCACACC	0.567																																																	0													94	94	94					17																	17035001		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"Pleckstrin homology (PH) domain containing"	30321	protein-coding gene	gene with protein product	"Rho interacting protein 3"	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.490delC	17.37:g.17035001delC	ENSP00000342379:p.Pro165fs		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T166fs	ENST00000341712.4	37	c.490	CCDS32578.1	17																																																																																			MPRIP	-	NULL	ENSG00000133030		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	MPRIP	HGNC	protein_coding	OTTHUMT00000131587.1		0	64	0	C	NM_015134		17035001	1	tier1		no_errors	ENST00000395811	ensembl	human	known	74_37	frame_shift_del	30.61	34	15	DEL	1.000	-	-	17035001	C	-	17035001	7	5	58	1	0	1	0	1	0	0	0	0	9781	739	26	0	508	0	MPRIP	17	17035001	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	5296856	17035001	64160209	1822	16205											
PEMT	10400	genome.wustl.edu	37	chr17	17409600	17409600	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgtcaggagcaggccCgtggggctggcgtgcctgaa	7	5	17	12	3	1	1	1	1	0	0	1	2	1	2	3	5	3	3	3	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17409600C>T	ENST00000395783.1	-	6	662	c.483G>A	c.(481-483)acG>acA	p.T161T	RP11-524F11.1_ENST00000582325.1_RNA|PEMT_ENST00000395782.1_Silent_p.T161T|PEMT_ENST00000435340.2_Missense_Mutation_p.G188R|PEMT_ENST00000255389.5_Silent_p.T198T|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395781.2_Missense_Mutation_p.G209R	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	161					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GGAGCAGGCCCGTGGGGCTGG	0.692																																																	0													20	16	18					17																	17409600		2195	4282	6477	SO:0001819	synonymous_variant	0			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.483G>A	17.37:g.17409600C>T			A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	pfam_Phopholipid_MeTrfase	p.G188R	ENST00000395783.1	37	c.562	CCDS11187.1	17	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686654	0.47991	.	.	ENSG00000133027	ENST00000435340;ENST00000395781	T;T	0.30448	1.53;1.6	4.3	-4.04	0.04010	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.22489	N	0.999056	B	0.06786	0.001	B	0.04013	0.001	T	0.34551	-0.9824	8	0.87932	D	0	-10.4491	0.2487	0.00202	0.2948:0.2517:0.1407:0.3128	.	209	A8MZ66	.	R	188;209	ENSP00000391288:G188R;ENSP00000379127:G209R	ENSP00000379127:G209R	G	-	1	0	PEMT	17350325	0.813000	0.29090	0.973000	0.42090	0.574000	0.36063	-0.313000	0.08103	-0.459000	0.07013	-0.350000	0.07774	GGG	PEMT	-	NULL	ENSG00000133027		0.692	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PEMT	HGNC	protein_coding	OTTHUMT00000131657.1	-	0	92	0	C	NM_007169		17409600	-1	tier1	-	no_errors	ENST00000435340	ensembl	human	putative	74_37	missense	37.08	56	33	SNP	0.766	T	T	17409600	C	T	17409600	2	4	58	1	0	0	0	0	0	0	0	1	11765	639	23	1		1	PEMT	17	17409600	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	374599	17409600	63785610	1823	16206											
RAI1	10743	genome.wustl.edu	37	chr17	17696716	17696716	+	Frame_Shift_Del	DEL	C	C	-																															tgatgaaaaagacagcagtgCcccccagcaggcagtatgca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17696716delC	ENST00000353383.1	+	3	923	c.454delC	c.(454-456)cccfs	p.P153fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.P153fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	153					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GACAGCAGTGCCCCCCAGCAG	0.652																																																	0													37	38	38					17																	17696716		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.454delC	17.37:g.17696716delC	ENSP00000323074:p.Pro153fs		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	smart_Znf_PHD	p.S154fs	ENST00000353383.1	37	c.454	CCDS11188.1	17																																																																																			RAI1	-	NULL	ENSG00000108557		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1		0	53	0	C	NM_030665		17696716	1	tier1		no_errors	ENST00000353383	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	1.000	-	-	17696716	C	-	17696716	7	5	58	1	0	1	0	1	0	0	0	0	13052	739	26	0	456	0	RAI1	17	17696716	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	287116	17696716	63498494	1824	16207											
LRRC48	83450	genome.wustl.edu	37	chr17	17891352	17891352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatcgactccctggaCgccctcgtcaagctgcaggt	8	8	10	15	3	1	1	1	0	0	1	5	3	3	2	3	2	2	2	3	2	2	0	rs376256002		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17891352C>T	ENST00000399187.1	+	5	602	c.384C>T	c.(382-384)gaC>gaT	p.D128D	LRRC48_ENST00000584166.1_Silent_p.D128D|LRRC48_ENST00000399182.1_Silent_p.D128D|LRRC48_ENST00000411504.2_Silent_p.D128D|LRRC48_ENST00000313838.8_Silent_p.D128D	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	128						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACTCCCTGGACGCCCTCGTCA	0.577																																																	0								C	,,,	0,4080		0,0,2040	58	59	59		384,384,384,384	-6.5	0	17		59	1,8355		0,1,4177	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LRRC48	NM_001130090.1,NM_001130091.1,NM_001130092.1,NM_031294.3	,,,	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	,,,	128/524,128/458,128/458,128/524	17891352	1,12435	2040	4178	6218	SO:0001819	synonymous_variant	0			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.384C>T	17.37:g.17891352C>T			A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	NULL	p.D128	ENST00000399187.1	37	c.384	CCDS45622.1	17																																																																																			LRRC48	-	NULL	ENSG00000171962		0.577	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	-	0	34	0	C	NM_031294		17891352	1	tier1	-	no_errors	ENST00000313838	ensembl	human	known	74_37	silent	58.62	12	17	SNP	0.014	T	T	17891352	C	T	17891352	2	4	58	1	0	0	0	0	0	0	0	1	9040	535	19	1		1	LRRC48	17	17891352	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	194636	17891352	63303858	1825	16208											
MYO15A	51168	genome.wustl.edu	37	chr17	18023733	18023733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcacgccgcgccagcGcaacctccagcgcgcgctgt	5	6	10	20	7	1	0	1	0	0	0	3	0	3	0	5	0	3	2	5	0	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18023733G>A	ENST00000205890.5	+	2	1957	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	540					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGCGCCAGCGCAACCTCCAG	0.721																																																	0													12	16	15					17																	18023733		1893	4058	5951	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1619G>A	17.37:g.18023733G>A	ENSP00000205890:p.Arg540His		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R540H	ENST00000205890.5	37	c.1619	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760067	0.69763	.	.	ENSG00000091536	ENST00000205890	D	0.89123	-2.47	4.95	3.97	0.46021	.	.	.	.	.	D	0.86531	0.5955	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	P	0.54431	0.752	D	0.86653	0.1899	9	0.66056	D	0.02	.	9.707	0.40222	0.0976:0.0:0.9023:0.0	.	540	Q9UKN7	MYO15_HUMAN	H	540	ENSP00000205890:R540H	ENSP00000205890:R540H	R	+	2	0	MYO15A	17964458	0.989000	0.36119	1.000000	0.80357	0.951000	0.60555	2.624000	0.46444	2.295000	0.77249	0.448000	0.29417	CGC	MYO15A	-	NULL	ENSG00000091536		0.721	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	31	0	G	NM_016239		18023733	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.913	A	A	18023733	G	A	18023733	3	1	58	1	0	0	0	0	1	0	0	0	10101	1087	38	1	1621	1	MYO15A	17	18023733	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	132381	18023733	63171477	1826	16209											
FLII	2314	genome.wustl.edu	37	chr17	18150067	18150067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagcggttgcttcctcGccttctttgccctcggcctt	1	14	9	17	3	2	0	1	0	1	0	5	0	3	0	5	2	3	2	5	2	0	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18150067G>A	ENST00000327031.4	-	23	3117	c.2892C>T	c.(2890-2892)ggC>ggT	p.G964G	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Silent_p.G953G|FLII_ENST00000379450.4_Silent_p.G878G|FLII_ENST00000545457.2_Silent_p.G909G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	964	Glu-rich.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ttgcttcctcgccttctttgc	0.587																																																	0													136	108	117					17																	18150067		2202	4300	6502	SO:0001819	synonymous_variant	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2892C>T	17.37:g.18150067G>A			B4DIL0|F5H407|J3QLG3	Silent	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.G964	ENST00000327031.4	37	c.2892	CCDS11192.1	17																																																																																			FLII	-	smart_Villin/Gelsolin	ENSG00000177731		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	-	0	89	0	G	NM_002018		18150067	-1	tier1	-	no_errors	ENST00000327031	ensembl	human	known	74_37	silent	39.73	44	29	SNP	0.009	A	A	18150067	G	A	18150067	2	1	58	1	0	0	0	0	0	0	0	1	5947	1074	38	1		1	FLII	17	18150067	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	126334	18150067	63045143	1827	16210											
CCDC144B	348254	genome.wustl.edu	37	chr17	18528581	18528581	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcaccgtgcttgctctcGctgccgacgctatttttcca	4	13	7	17	4	2	0	1	0	1	0	4	1	3	0	4	0	3	4	4	0	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18528581G>A								CCDC144B (18877 upstream) : TBC1D28 (9737 downstream)																							GCTTGCTCTCGCTGCCGACGC	0.647																																																	0													54	64	61					17																	18528581		2203	4300	6503	SO:0001628	intergenic_variant	0																															17.37:g.18528581G>A				RNA	SNP	-	NULL		37	NULL		17																																																																																			CCDC144B	-	-	ENSG00000154874	0	0.647					CCDC144B	HGNC			-	0	73	0	G			18528581	-1	tier1	-	no_errors	ENST00000450277	ensembl	human	known	74_37	rna	44.44	30	24	SNP	0.052	A	A	18528581	G	A	18528581	1	1	58	0	1	0	0	0	0	0	0	0	2785	1078	38	1		1	CCDC144B	17	18528581	IGR	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	378514	18528581	62666629	1828	16211											
FBXW10	10517	genome.wustl.edu	37	chr17	18681823	18681823	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcacaaaaacaaggacaaTtggaaactcctggaaaactg	20	5	8	8	0	0	0	0	0	0	0	1	3	1	3	1	3	4	1	1	3	8	1	rs556103426		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18681823T>A	ENST00000395665.4	+	14	2592	c.2371T>A	c.(2371-2373)Ttg>Atg	p.L791M	FBXW10_ENST00000308799.4_Missense_Mutation_p.L800M|TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.L790M|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.L738M			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	791										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ACAAGGACAATTGGAAACTCC	0.388																																																	0													45	40	42					17																	18681823		2200	4298	6498	SO:0001583	missense	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2371T>A	17.37:g.18681823T>A	ENSP00000379025:p.Leu791Met		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L800M	ENST00000395665.4	37	c.2398	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598049	0.28445	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.61859	0.16;0.32;0.07;0.23	4.04	-4.66	0.03329	.	0.858235	0.09076	N	0.852005	T	0.35068	0.0919	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.28850	0.102;0.225;0.062;0.114	B;B;B;B	0.21151	0.033;0.032;0.015;0.032	T	0.21759	-1.0236	10	0.33940	T	0.23	.	0.377	0.00389	0.3411:0.2407:0.2126:0.2056	.	738;800;791;790	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	M	790;800;738;791	ENSP00000379026:L790M;ENSP00000310382:L800M;ENSP00000306937:L738M;ENSP00000379025:L791M	ENSP00000306937:L738M	L	+	1	2	FBXW10	18622548	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-2.406000	0.01044	-0.612000	0.05701	-0.526000	0.04340	TTG	FBXW10	-	NULL	ENSG00000171931		0.388	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	-	0	93	0	T	NM_031456		18681823	1	tier1	-	no_errors	ENST00000308799	ensembl	human	known	74_37	missense	37.86	64	39	SNP	0.000	A	A	18681823	T	A	18681823	3	1	58	1	0	0	0	0	1	0	0	0	5785	1490	52	5	2422	5	FBXW10	17	18681823	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	153242	18681823	62513387	1829	16212											
FAM18B	51030	genome.wustl.edu	37	chr17	18707518	18707518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacatcaggtgtaaggtgcGcagcagaaagcatttaacca	14	9	10	8	1	1	1	1	0	0	1	1	1	1	1	1	2	5	4	1	2	4	4	rs374582039		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18707518G>A	ENST00000307767.8	+	6	829	c.530G>A	c.(529-531)cGc>cAc	p.R177H	TVP23B_ENST00000574226.1_Missense_Mutation_p.R177H|TVP23B_ENST00000581733.1_Missense_Mutation_p.R113H|TVP23B_ENST00000476139.1_Missense_Mutation_p.R113H	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	177						integral component of membrane (GO:0016021)											TGTAAGGTGCGCAGCAGAAAG	0.418																																																	0								G	HIS/ARG	0,3768		0,0,1884	79	73	75		530	2.7	1	17		75	1,8187		0,1,4093	no	missense	FAM18B1	NM_016078.4	29	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	benign	177/206	18707518	1,11955	1884	4094	5978	SO:0001583	missense	0			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"family with sequence similarity 18, member B", "family with sequence similarity 18, member B1"	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.530G>A	17.37:g.18707518G>A	ENSP00000305654:p.Arg177His		A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	pfam_DUF846_euk	p.R177H	ENST00000307767.8	37	c.530	CCDS42274.1	17	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047541	0.36085	0.0	1.22E-4	ENSG00000171928	ENST00000307767	T	0.30182	1.54	2.68	2.68	0.31781	.	0.052154	0.85682	D	0.000000	T	0.17662	0.0424	N	0.22421	0.69	0.23168	N	0.998181	B	0.19706	0.038	B	0.09377	0.004	T	0.16867	-1.0388	10	0.15952	T	0.53	-5.7081	11.11	0.48226	0.0:0.0:1.0:0.0	.	177	Q9NYZ1	F18B1_HUMAN	H	177	ENSP00000305654:R177H	ENSP00000305654:R177H	R	+	2	0	FAM18B1	18648243	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	8.892000	0.92491	1.504000	0.48704	0.194000	0.17425	CGC	TVP23B	-	NULL	ENSG00000171928		0.418	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TVP23B	HGNC	protein_coding	OTTHUMT00000130667.2	-	0	101	0	G	NM_016078		18707518	1	tier1	-	no_errors	ENST00000307767	ensembl	human	known	74_37	missense	51.14	43	45	SNP	1.000	A	A	18707518	G	A	18707518	3	1	58	1	0	0	0	0	1	0	0	0	5538	1087	38	1	552	1	FAM18B	17	18707518	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	25695	18707518	62487692	1830	16213											
FAM83G	644815	genome.wustl.edu	37	chr17	18891589	18891589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggtgcatgcaggcccGctcacacatgtgcaggaagt	9	6	12	14	1	1	0	1	0	0	0	1	1	1	1	3	3	3	4	3	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18891589G>A	ENST00000388995.6	-	3	884	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R221W|FAM83G_ENST00000585154.2_Missense_Mutation_p.R221W			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	221					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGCAGGCCCGCTCACACATG	0.567																																																	0													98	102	101					17																	18891589		2096	4225	6321	SO:0001583	missense	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.661C>T	17.37:g.18891589G>A	ENSP00000373647:p.Arg221Trp		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.R221W	ENST00000388995.6	37	c.661	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829902	0.32329	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.12984	2.63;2.63	5.29	4.26	0.50523	.	0.056249	0.64402	D	0.000003	T	0.25975	0.0633	M	0.65498	2.005	0.46725	D	0.999172	D	0.54772	0.968	P	0.52793	0.709	T	0.01326	-1.1384	10	0.87932	D	0	-38.2082	12.6507	0.56759	0.0:0.0:0.7102:0.2898	.	221	A6ND36	FA83G_HUMAN	W	221	ENSP00000373647:R221W;ENSP00000343279:R221W	ENSP00000343279:R221W	R	-	1	2	FAM83G	18832314	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.926000	0.63433	2.497000	0.84241	0.591000	0.81541	CGG	FAM83G	-	pfam_DUF1669	ENSG00000188522		0.567	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	-	0	53	0	G			18891589	-1	tier1	-	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A	A	18891589	G	A	18891589	3	1	58	1	0	0	0	0	1	0	0	0	5661	1086	38	1	1826	1	FAM83G	17	18891589	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	184071	18891589	62303621	1831	16214											
B9D1	27077	genome.wustl.edu	37	chr17	19261171	19261171	+	Frame_Shift_Del	DEL	T	T	-																															acagccgtaggggttggtgcTtttaaaggtgacatcaatgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:19261171delT	ENST00000261499.4	-	3	369	c.226delA	c.(226-228)agcfs	p.S76fs	B9D1_ENST00000395615.1_Frame_Shift_Del_p.S76fs|B9D1_ENST00000395616.3_Frame_Shift_Del_p.S76fs|B9D1_ENST00000477478.2_Frame_Shift_Del_p.K51fs|B9D1_ENST00000575403.1_Frame_Shift_Del_p.K51fs|B9D1_ENST00000461069.2_Frame_Shift_Del_p.S76fs|B9D1_ENST00000268841.6_Frame_Shift_Del_p.S76fs	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	76	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGTTGGTGCTTTTAAAGGTG	0.582																																																	0													154	123	134					17																	19261171		2203	4300	6503	SO:0001589	frameshift_variant	0			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"endothelial precursor protein B9"	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.226delA	17.37:g.19261171delT	ENSP00000261499:p.Ser76fs		Q9BU22	Frame_Shift_Del	DEL	pfam_B9_dom	p.S76fs	ENST00000261499.4	37	c.226	CCDS11205.1	17																																																																																			B9D1	-	pfam_B9_dom	ENSG00000108641		0.582	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D1	HGNC	protein_coding	OTTHUMT00000132494.1		0	49	0	T	NM_015681		19261171	-1	tier1		no_errors	ENST00000261499	ensembl	human	known	74_37	frame_shift_del	42.86	20	15	DEL	1.000	-	-	19261171	T	-	19261171	7	5	58	1	0	1	0	1	0	0	0	0	1278	1609	56	0	408	0	B9D1	17	19261171	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	369582	19261171	61934039	1832	16215											
SLC47A2	146802	genome.wustl.edu	37	chr17	19618055	19618055	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacatcaaggtgtcacaTgccgaagacaaaccaactcc	15	6	8	12	1	2	2	2	1	0	2	3	4	3	2	3	1	3	0	3	1	4	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:19618055T>C	ENST00000325411.5	-	3	323	c.273A>G	c.(271-273)gcA>gcG	p.A91A	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Silent_p.A91A	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	91					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	AGGTGTCACATGCCGAAGACA	0.562																																																	0													219	206	210					17																	19618055		2203	4300	6503	SO:0001819	synonymous_variant	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"Solute carriers"	26439	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 2"	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.273A>G	17.37:g.19618055T>C			A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	pfam_MATE,tigrfam_MATE	p.A91	ENST00000325411.5	37	c.273	CCDS11211.1	17																																																																																			SLC47A2	-	pfam_MATE	ENSG00000180638		0.562	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	-	0	37	0	T	NM_152908		19618055	-1	tier1	-	no_errors	ENST00000325411	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.001	C	C	19618055	T	C	19618055	2	2	58	1	0	0	0	0	0	0	0	1	14693	1451	51	4		4	SLC47A2	17	19618055	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	356884	19618055	61577155	1833	16216											
CYTSB	92521	genome.wustl.edu	37	chr17	20013849	20013849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccatctcggagctcaCggagagccgcctgaggagcg	8	4	16	13	5	2	2	1	1	1	1	3	6	2	5	3	4	4	1	3	4	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:20013849C>T	ENST00000261503.5	+	3	308	c.257C>T	c.(256-258)aCg>aTg	p.T86M	SPECC1_ENST00000395527.4_Missense_Mutation_p.T86M|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.T86M	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	86					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGGAGCTCACGGAGAGCCGC	0.652																																																	0													27	30	29					17																	20013849		2203	4300	6503	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.257C>T	17.37:g.20013849C>T	ENSP00000261503:p.Thr86Met		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T86M	ENST00000261503.5	37	c.257	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569053	0.28003	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529	T;T	0.64618	-0.11;2.86	5.47	5.47	0.80525	.	0.590398	0.17737	N	0.163709	T	0.56001	0.1956	L	0.34521	1.04	0.80722	D	1	P;P	0.43519	0.809;0.589	B;B	0.40677	0.337;0.054	T	0.61108	-0.7129	10	0.62326	D	0.03	0.1999	17.2037	0.86913	0.0:1.0:0.0:0.0	.	86;86	Q5M775-2;Q5M775	.;CYTSB_HUMAN	M	86	ENSP00000261503:T86M;ENSP00000378900:T86M	ENSP00000261503:T86M	T	+	2	0	SPECC1	19954441	0.083000	0.21467	0.006000	0.13384	0.003000	0.03518	4.759000	0.62227	2.749000	0.94314	0.655000	0.94253	ACG	SPECC1	-	NULL	ENSG00000128487		0.652	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	-	0	42	0	C	NM_152904		20013849	1	tier1	-	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	55.56	16	20	SNP	0.026	T	T	20013849	C	T	20013849	3	4	58	1	0	0	0	0	1	0	0	0	4219	536	19	1	263	1	CYTSB	17	20013849	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	395794	20013849	61181361	1834	16217											
KIAA0100	9703	genome.wustl.edu	37	chr17	26962454	26962454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtaatggctcaggggcacgGccttctagctcagaagtagt	9	9	14	9	1	3	1	2	0	1	1	3	1	3	1	1	5	1	5	1	5	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:26962454G>A	ENST00000528896.2	-	16	2225	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.G574G|KIAA0100_ENST00000389003.3_Silent_p.G574G|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	717						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGCACGGCCTTCTAGCT	0.522																																																	0													86	80	82					17																	26962454		2203	4300	6503	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"cancer/testis antigen 101", "breast cancer overexpressed gene 1"	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2151C>T	17.37:g.26962454G>A			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.G717	ENST00000528896.2	37	c.2151	CCDS32595.1	17																																																																																			KIAA0100	-	NULL	ENSG00000007202		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	-	0	83	0	G	NM_014680		26962454	-1	tier1	-	no_errors	ENST00000528896	ensembl	human	known	74_37	silent	48.31	46	43	SNP	0.000	A	A	26962454	G	A	26962454	2	1	58	1	0	0	0	0	0	0	0	1	8181	1190	42	3		3	KIAA0100	17	26962454	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6948605	26962454	54232756	1835	16218											
ERAL1	26284	genome.wustl.edu	37	chr17	27185670	27185670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgtggtcaatggcaaaaAgctcaagatgaggcaggcct	13	7	14	7	0	2	2	2	1	0	1	2	2	2	2	1	5	1	3	1	5	4	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:27185670A>C	ENST00000254928.5	+	7	885	c.788A>C	c.(787-789)aAg>aCg	p.K263T	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	263	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			AATGGCAAAAAGCTCAAGATG	0.547																																																	0													101	100	101					17																	27185670		2203	4300	6503	SO:0001583	missense	0			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"Era (E. coli G-protein homolog)-like 1", "Era G-protein-like 1 (E. coli)"			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.788A>C	17.37:g.27185670A>C	ENSP00000254928:p.Lys263Thr		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.K263T	ENST00000254928.5	37	c.788	CCDS11244.1	17	.	.	.	.	.	.	.	.	.	.	A	10.94	1.491821	0.26774	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	.	.	.	6.08	3.72	0.42706	.	0.270136	0.46758	D	0.000265	T	0.57301	0.2044	M	0.76574	2.34	0.58432	D	0.999998	B	0.27380	0.177	B	0.15484	0.013	T	0.58651	-0.7599	9	0.54805	T	0.06	-14.979	8.4842	0.33061	0.7354:0.1352:0.0:0.1294	.	263	O75616	ERAL1_HUMAN	T	263;203	.	ENSP00000254928:K263T	K	+	2	0	ERAL1	24209796	0.973000	0.33851	0.993000	0.49108	0.380000	0.30137	2.279000	0.43435	1.086000	0.41228	0.533000	0.62120	AAG	ERAL1	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000132591		0.547	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2	-	0	38	0	A			27185670	1	tier1	-	no_errors	ENST00000254928	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.939	C	C	27185670	A	C	27185670	3	2	58	1	0	0	0	0	1	0	0	0	5218	72	3	4	814	4	ERAL1	17	27185670	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	223216	27185670	54009540	1836	16219											
MYO18A	399687	genome.wustl.edu	37	chr17	27448877	27448877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccacctaccttctcaaCgtcatcctcatccacatcca	9	10	2	20	1	3	0	3	0	1	0	7	0	6	0	6	0	3	0	6	0	2	2	rs373443144		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:27448877C>T	ENST00000527372.1	-	4	1366	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I	MYO18A_ENST00000354329.4_Missense_Mutation_p.V396I|MYO18A_ENST00000533112.1_Missense_Mutation_p.V396I|MYO18A_ENST00000531253.1_Missense_Mutation_p.V396I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	396	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTTCTCAACGTCATCCTCA	0.622																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0								C	ILE/VAL,ILE/VAL	0,4116		0,0,2058	88	89	89		1186,1186	2.5	0.4	17		89	1,8393		0,1,4196	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	29,29	0,1,6254	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	396/2055,396/2040	27448877	1,12509	2058	4197	6255	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1186G>A	17.37:g.27448877C>T	ENSP00000437073:p.Val396Ile		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.V396I	ENST00000527372.1	37	c.1186	CCDS45642.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.44|15.44	2.834338|2.834338	0.50951|0.50951	0.0|0.0	1.19E-4|1.19E-4	ENSG00000196535|ENSG00000196535	ENST00000528564|ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	.|T;T;T;T	.|0.72167	.|-0.63;-0.63;-0.63;-0.63	5.64|5.64	2.52|2.52	0.30459|0.30459	.|.	.|0.169097	.|0.51477	.|N	.|0.000086	T|T	0.53818|0.53818	0.1820|0.1820	L|L	0.43757|0.43757	1.38|1.38	0.30926|0.30926	N|N	0.727406|0.727406	.|B;B;B;B	.|0.32526	.|0.03;0.374;0.019;0.014	.|B;B;B;B	.|0.22601	.|0.028;0.04;0.01;0.007	T|T	0.50825|0.50825	-0.8782|-0.8782	5|10	.|0.26408	.|T	.|0.33	.|.	7.283|7.283	0.26322|0.26322	0.1221:0.6887:0.0:0.1893|0.1221:0.6887:0.0:0.1893	.|.	.|65;396;396;396	.|Q92614-2;Q92614-3;Q92614-4;Q92614	.|.;.;.;MY18A_HUMAN	H|I	101|396;396;396;396;396;76	.|ENSP00000346291:V396I;ENSP00000435932:V396I;ENSP00000434228:V396I;ENSP00000437073:V396I	.|ENSP00000346291:V396I	R|V	-|-	2|1	0|0	MYO18A|MYO18A	24473003|24473003	0.764000|0.764000	0.28473|0.28473	0.354000|0.354000	0.25760|0.25760	0.903000|0.903000	0.53119|0.53119	1.468000|1.468000	0.35332|0.35332	0.306000|0.306000	0.22856|0.22856	0.655000|0.655000	0.94253|0.94253	CGT|GTT	MYO18A	-	superfamily_P-loop_NTPase	ENSG00000196535		0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	-	0	59	0	C	NM_078471		27448877	-1	tier1	-	no_errors	ENST00000354329	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.949	T	T	27448877	C	T	27448877	3	4	58	1	0	0	0	0	1	0	0	0	10103	536	19	1	5134	1	MYO18A	17	27448877	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	263207	27448877	53746333	1837	16220											
TAOK1	57551	genome.wustl.edu	37	chr17	27778671	27778671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagatctcagagaaattggCcatggaagctttggagcagt	13	9	12	7	0	1	2	1	0	1	2	2	5	1	4	1	3	2	2	1	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:27778671C>T	ENST00000261716.3	+	2	624	c.105C>T	c.(103-105)ggC>ggT	p.G35G	TAOK1_ENST00000536202.1_Silent_p.G35G	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAGAAATTGGCCATGGAAGCT	0.418																																																	0													135	130	132					17																	27778671		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.105C>T	17.37:g.27778671C>T			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G35	ENST00000261716.3	37	c.105	CCDS32601.1	17																																																																																			TAOK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160551		0.418	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	-	0	44	0	C	NM_020791		27778671	1	tier1	-	no_errors	ENST00000261716	ensembl	human	known	74_37	silent	18.60	35	8	SNP	1.000	T	T	27778671	C	T	27778671	2	4	58	1	0	0	0	0	0	0	0	1	15594	726	26	3		3	TAOK1	17	27778671	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	329794	27778671	53416539	1838	16221											
NF1	4763	genome.wustl.edu	37	chr17	29546092	29546092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacagggctcgtccaactgGtccctcagtcacacatgcca	9	9	8	15	1	2	0	2	0	0	0	5	0	4	0	3	2	3	1	3	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:29546092G>A	ENST00000358273.4	+	14	1980	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	NF1_ENST00000431387.4_Missense_Mutation_p.V533I|NF1_ENST00000356175.3_Missense_Mutation_p.V533I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	533					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGTCCAACTGGTCCCTCAGTC	0.428			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)											73	68	69					17																	29546092		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1597G>A	17.37:g.29546092G>A	ENSP00000351015:p.Val533Ile		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.V533I	ENST00000358273.4	37	c.1597	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879831	0.51801	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.64085	2.72;-0.08;-0.08;2.85	5.65	4.68	0.58851	Armadillo-type fold (1);	0.122950	0.56097	D	0.000039	T	0.66519	0.2797	L	0.46741	1.465	0.80722	D	1	B;B;B;D;D	0.58620	0.326;0.001;0.087;0.983;0.958	B;B;B;P;P	0.55391	0.138;0.007;0.085;0.775;0.699	T	0.63323	-0.6663	10	0.25751	T	0.34	.	14.4469	0.67356	0.071:0.0:0.929:0.0	.	533;533;533;533;533	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	I	533;533;533;199	ENSP00000412921:V533I;ENSP00000351015:V533I;ENSP00000348498:V533I;ENSP00000389907:V199I	ENSP00000348498:V533I	V	+	1	0	NF1	26570218	1.000000	0.71417	0.967000	0.41034	0.871000	0.50021	9.138000	0.94501	1.379000	0.46325	0.585000	0.79938	GTC	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	-	0	34	0	G	NM_000267		29546092	1	tier1	-	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	A	A	29546092	G	A	29546092	3	1	58	1	0	0	0	0	1	0	0	0	10395	1261	44	3	1651	3	NF1	17	29546092	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1767421	29546092	51649118	1839	16222											
LRRC37B	114659	genome.wustl.edu	37	chr17	30348815	30348815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattatccaaacctcagcGtcagaaacagactttgccag	14	8	6	13	1	2	2	2	0	0	2	3	2	3	2	4	0	4	0	4	0	4	2	rs145638325		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:30348815G>A	ENST00000341671.7	+	1	655	c.650G>A	c.(649-651)cGt>cAt	p.R217H	LRRC37B_ENST00000584368.1_Missense_Mutation_p.R229H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R135H|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R217H|LRRC37B_ENST00000327564.7_Missense_Mutation_p.R244H	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	217						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAACCTCAGCGTCAGAAACAG	0.483																																																	0								G	HIS/ARG	0,4406		0,0,2203	78	86	83		650	-2.8	0	17	dbSNP_134	83	2,8598		0,2,4298	no	missense	LRRC37B	NM_052888.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	217/948	30348815	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.650G>A	17.37:g.30348815G>A	ENSP00000340519:p.Arg217His		Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R217H	ENST00000341671.7	37	c.650	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.837509	0.00573	0.0	2.33E-4	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.65364	-0.09;-0.15;0.96;-0.14	1.38	-2.77	0.05877	.	.	.	.	.	T	0.36826	0.0981	L	0.36672	1.1	0.09310	N	1	B;P	0.35628	0.0;0.513	B;B	0.20384	0.0;0.029	T	0.14282	-1.0478	9	0.16420	T	0.52	.	3.3722	0.07225	0.3705:0.0:0.3885:0.241	.	217;217	Q17RC9;Q96QE4	.;LR37B_HUMAN	H	135;244;217;217	ENSP00000443345:R135H;ENSP00000332536:R244H;ENSP00000378202:R217H;ENSP00000340519:R217H	ENSP00000332536:R244H	R	+	2	0	LRRC37B	27372928	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.919000	0.00694	-3.095000	0.00246	-1.172000	0.01736	CGT	LRRC37B	-	NULL	ENSG00000185158		0.483	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	-	0	34	0	G	NM_052888		30348815	1	tier1	rs145638325	no_errors	ENST00000341671	ensembl	human	known	74_37	missense	56.82	19	25	SNP	0.000	A	A	30348815	G	A	30348815	3	1	58	1	0	0	0	0	1	0	0	0	9029	1145	40	1	652	1	LRRC37B	17	30348815	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	802723	30348815	50846395	1840	16223											
SLFN13	146857	genome.wustl.edu	37	chr17	33767862	33767862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgctccacttctgtcaCggtgctgacaagcacagcaa	11	9	8	13	1	2	1	1	1	1	0	3	1	3	1	1	1	5	4	1	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:33767862C>T	ENST00000285013.6	-	6	2721	c.2446G>A	c.(2446-2448)Gtg>Atg	p.V816M	SLFN13_ENST00000360502.2_Missense_Mutation_p.V498M|SLFN13_ENST00000542635.1_Missense_Mutation_p.V816M|SLFN13_ENST00000526861.1_Missense_Mutation_p.V816M|SLFN13_ENST00000533791.1_Missense_Mutation_p.V816M|SLFN13_ENST00000534689.1_Missense_Mutation_p.V498M	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	816						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACTTCTGTCACGGTGCTGACA	0.468																																																	0													182	152	162					17																	33767862		2203	4300	6503	SO:0001583	missense	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2446G>A	17.37:g.33767862C>T	ENSP00000285013:p.Val816Met		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.V816M	ENST00000285013.6	37	c.2446	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	c	6.316	0.426325	0.11987	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	3.26	-6.51	0.01878	.	2.502770	0.01545	N	0.019408	T	0.62060	0.2397	N	0.12182	0.205	0.09310	N	1	B;B	0.14012	0.009;0.008	B;B	0.12837	0.008;0.001	T	0.52593	-0.8555	10	0.48119	T	0.1	.	5.6619	0.17674	0.0:0.3951:0.2699:0.335	.	498;816	Q68D06-2;Q68D06	.;SLN13_HUMAN	M	816;498;816;816;498	ENSP00000285013:V816M;ENSP00000353692:V498M;ENSP00000434439:V816M;ENSP00000444016:V816M;ENSP00000435442:V498M	ENSP00000285013:V816M	V	-	1	0	SLFN13	30791975	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-8.109000	0.00025	-1.304000	0.02329	-1.763000	0.00667	GTG	SLFN13	-	superfamily_P-loop_NTPase	ENSG00000154760		0.468	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	-	0	40	0	C	NM_144682		33767862	-1	tier1	-	no_errors	ENST00000285013	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.000	T	T	33767862	C	T	33767862	3	4	58	1	0	0	0	0	1	0	0	0	14781	536	19	1	251	1	SLFN13	17	33767862	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3419047	33767862	47427348	1841	16224											
RASL10B	91608	genome.wustl.edu	37	chr17	34067487	34067487	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgcctacatcctggtctaCgacatctgctgctttgacag	8	11	8	14	2	2	1	0	1	2	0	3	2	3	1	2	1	4	2	2	1	2	3	rs377684342		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34067487C>T	ENST00000268864.3	+	3	653	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	92	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTGGTCTACGACATCTGCT	0.582																																																	0								C		0,4406		0,0,2203	102	85	91		276	1.9	1	17		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RASL10B	NM_033315.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		92/204	34067487	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.276C>T	17.37:g.34067487C>T			B3KV31	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.Y92	ENST00000268864.3	37	c.276	CCDS11297.1	17																																																																																			RASL10B	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	ENSG00000141150		0.582	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL10B	HGNC	protein_coding	OTTHUMT00000256498.2	-	0	99	0	C	NM_033315		34067487	1	tier1	-	no_errors	ENST00000268864	ensembl	human	known	74_37	silent	46.39	52	45	SNP	1.000	T	T	34067487	C	T	34067487	2	4	58	1	0	0	0	0	0	0	0	1	13125	547	19	1		1	RASL10B	17	34067487	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	299625	34067487	47127723	1842	16225											
CCL14	6358	genome.wustl.edu	37	chr17	34312816	34312816	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtattttaacaaccttcGgtttccccccagtttctgaa	8	15	6	12	1	1	1	0	1	1	0	3	1	2	1	4	1	2	4	4	1	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34312816G>T	ENST00000394509.4	-	1	188				CCL14_ENST00000435911.2_Missense_Mutation_p.P32Q|CCL15-CCL14_ENST00000481427.2_Intron|CCL14_ENST00000586216.1_Intron|CCL14_ENST00000480944.2_5'UTR|CTB-186H2.3_ENST00000591669.1_Intron|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Missense_Mutation_p.P32Q			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14						cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACAACCTTCGGTTTCCCCCC	0.423																																																	0													171	151	157					17																	34312816		692	1591	2283	SO:0001627	intron_variant	0			Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"Chemokine ligands", "Endogenous ligands"	10612	protein-coding gene	gene with protein product		601392	"small inducible cytokine subfamily A (Cys-Cys), member 14"	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.79+790C>A	17.37:g.34312816G>T			E1P649|E1P650|Q13954	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.P32Q	ENST00000394509.4	37	c.95	CCDS32624.1	17	.	.	.	.	.	.	.	.	.	.	T	6.662	0.490639	0.12702	.	.	ENSG00000213494	ENST00000536149;ENST00000435911	T;T	0.03468	3.92;3.92	3.39	-0.605	0.11623	.	.	.	.	.	T	0.01489	0.0048	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47407	-0.9120	8	0.06236	T	0.91	.	4.1753	0.10349	0.0:0.3967:0.1888:0.4145	.	32	Q16627-2	.	Q	32	ENSP00000441771:P32Q;ENSP00000409197:P32Q	ENSP00000409197:P32Q	P	-	2	0	CCL14	31336929	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	0.112000	0.15479	-0.440000	0.07211	-0.362000	0.07510	CCG	CCL14	-	NULL	ENSG00000213494		0.423	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL14	HGNC	protein_coding	OTTHUMT00000272892.2	-	0	65	0	G	NM_032962		34312816	-1	tier1	-	no_errors	ENST00000435911	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.000	T	T	34312816	G	T	34312816	1	4	58	0	1	0	0	0	0	0	0	0	2892	1116	39	2		2	CCL14	17	34312816	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	245329	34312816	46882394	1843	16226											
MYO19	80179	genome.wustl.edu	37	chr17	34862904	34862904	+	Frame_Shift_Del	DEL	G	G	-																															agcttattgtggcccaggcaGgggctgcctgccagggcagt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34862904delG	ENST00000431794.3	-	17	2064	c.1542delC	c.(1540-1542)cccfs	p.P514fs	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	514	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCCCAGGCAGGGGCTGCCTG	0.632																																																	0													45	46	46					17																	34862904		1568	3582	5150	SO:0001589	frameshift_variant	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"Myosins / Myosin superfamily : Class XIX"	26234	protein-coding gene	gene with protein product			"myosin head domain containing 1"	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1542delC	17.37:g.34862904delG	ENSP00000409936:p.Pro514fs		Q59GS4|Q9H5X2	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C515fs	ENST00000431794.3	37	c.1542	CCDS54112.1	17																																																																																			MYO19	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000141140		0.632	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1		0	52	0	G	NM_025109		34862904	-1	tier1		no_errors	ENST00000431794	ensembl	human	known	74_37	frame_shift_del	31.37	35	16	DEL	0.926	-	-	34862904	G	-	34862904	7	5	58	1	0	1	0	1	0	0	0	0	10105	987	35	0	1410	0	MYO19	17	34862904	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	550088	34862904	46332306	1844	16227											
GGNBP2	79893	genome.wustl.edu	37	chr17	34913100	34913100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacccctaacagtagggCccaagggagtcctgtctgta	10	9	11	11	0	1	1	0	1	1	0	2	2	2	2	4	2	2	2	4	2	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34913100C>T	ENST00000304718.4	+	4	668	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AACAGTAGGGCCCAAGGGAGT	0.443																																																	0													137	123	128					17																	34913100		2203	4300	6503	SO:0001583	missense	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.352C>T	17.37:g.34913100C>T	ENSP00000307617:p.Pro118Ser		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.P118S	ENST00000304718.4	37	c.352	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650511	0.29336	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.13	5.13	0.70059	.	0.292151	0.38778	N	0.001570	T	0.28167	0.0695	N	0.04508	-0.205	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.11397	-1.0589	9	0.33141	T	0.24	-1.4058	9.1177	0.36769	0.0:0.7735:0.1483:0.0782	.	118;118	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	S	118	.	ENSP00000307617:P118S	P	+	1	0	GGNBP2	31987213	0.994000	0.37717	0.999000	0.59377	0.994000	0.84299	1.571000	0.36450	2.574000	0.86865	0.579000	0.79373	CCC	GGNBP2	-	NULL	ENSG00000005955		0.443	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0	91	0	C	NM_024835		34913100	1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	41.43	41	29	SNP	1.000	T	T	34913100	C	T	34913100	3	4	58	1	0	0	0	0	1	0	0	0	6385	739	26	3	362	3	GGNBP2	17	34913100	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	50196	34913100	46282110	1845	16228											
GGNBP2	79893	genome.wustl.edu	37	chr17	34934522	34934522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactttatgaaggcttgCggtgctgtccacatgaacga	9	11	11	10	2	0	2	0	2	0	0	1	3	1	2	1	2	4	3	1	2	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34934522C>T	ENST00000304718.4	+	7	1067	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	251					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGAAGGCTTGCGGTGCTGTCC	0.453																																																	0													197	181	187					17																	34934522		2203	4300	6503	SO:0001583	missense	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.751C>T	17.37:g.34934522C>T	ENSP00000307617:p.Arg251Trp		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.R251W	ENST00000304718.4	37	c.751	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576798	0.86645	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.68	5.68	0.88126	.	0.053757	0.85682	D	0.000000	T	0.72977	0.3528	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	P;P;P	0.62298	0.9;0.9;0.736	T	0.74639	-0.3598	9	0.87932	D	0	-6.7123	19.7758	0.96391	0.0:1.0:0.0:0.0	.	251;251;251	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	W	251	.	ENSP00000307617:R251W	R	+	1	2	GGNBP2	32008635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.226000	0.58606	2.681000	0.91329	0.585000	0.79938	CGG	GGNBP2	-	NULL	ENSG00000005955		0.453	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0	75	0	C	NM_024835		34934522	1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	44.44	35	28	SNP	1.000	T	T	34934522	C	T	34934522	3	4	58	1	0	0	0	0	1	0	0	0	6385	759	27	1	773	1	GGNBP2	17	34934522	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	21422	34934522	46260688	1846	16229											
ACACA	31	genome.wustl.edu	37	chr17	35557399	35557399	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggaaagtaaggcgccGgatcccatggtcaaccaggg	13	4	13	11	2	1	0	1	0	0	0	2	2	2	2	4	5	2	1	4	5	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:35557399G>T	ENST00000394406.2	-	34	4163	c.3973C>A	c.(3973-3975)Cgg>Agg	p.R1325R	ACACA_ENST00000360679.3_Silent_p.R1267R|ACACA_ENST00000353139.5_Silent_p.R1362R|ACACA_ENST00000335166.5_Silent_p.R1247R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1325					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTAAGGCGCCGGATCCCATGG	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													65	63	63					17																	35557399		2203	4300	6503	SO:0001819	synonymous_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3973C>A	17.37:g.35557399G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R1362	ENST00000394406.2	37	c.4084	CCDS11317.1	17																																																																																			ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1		0	13	0	G	NM_198836		35557399	-1			no_errors	ENST00000353139	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.985	T	T	35557399	G	T	35557399	2	4	58	1	0	0	0	0	0	0	0	1	106	1115	39	2		2	ACACA	17	35557399	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	622877	35557399	45637811	1847	16230											
PIP4K2B	8396	genome.wustl.edu	37	chr17	36943140	36943140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcatctggcattagcaTgacaggaacaggaacattgc	14	8	11	8	0	2	1	1	1	1	0	2	4	2	3	0	3	4	2	0	3	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:36943140T>C	ENST00000269554.3	-	2	673	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	65	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGCATTAGCATGACAGGAACA	0.468																																																	0													279	236	250					17																	36943140		2203	4300	6503	SO:0001583	missense	0			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.193A>G	17.37:g.36943140T>C	ENSP00000269554:p.Met65Val		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.M65V	ENST00000269554.3	37	c.193	CCDS11329.1	17	.	.	.	.	.	.	.	.	.	.	T	13.84	2.355965	0.41700	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.28895	1.59	5.29	5.29	0.74685	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.47716	1.5	0.80722	D	1	B;B;P	0.35872	0.218;0.324;0.525	B;B;B	0.38500	0.075;0.157;0.275	T	0.04255	-1.0965	10	0.20519	T	0.43	-27.4424	14.1905	0.65635	0.0:0.0:0.0:1.0	.	65;65;65	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	V	65	ENSP00000269554:M65V	ENSP00000269554:M65V	M	-	1	0	PIP4K2B	34196666	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.868000	0.87116	2.224000	0.72417	0.459000	0.35465	ATG	PIP4K2B	-	NULL	ENSG00000141720		0.468	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1	-	0	90	0	T	NM_003559		36943140	-1	tier1	-	no_errors	ENST00000269554	ensembl	human	known	74_37	missense	45.98	47	40	SNP	1.000	C	C	36943140	T	C	36943140	3	2	58	1	0	0	0	0	1	0	0	0	11976	1464	51	4	1093	4	PIP4K2B	17	36943140	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1385741	36943140	44252070	1848	16231											
STAC2	342667	genome.wustl.edu	37	chr17	37381682	37381682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaccttggtttcctggaggGcggagacggtccctgggggg	4	10	18	9	2	0	1	0	0	0	1	2	3	2	2	3	8	1	1	3	8	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37381682G>A	ENST00000333461.5	-	1	443	c.74C>T	c.(73-75)gCc>gTc	p.A25V		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	25					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TTCCTGGAGGGCGGAGACGGT	0.716																																																	0													52	45	48					17																	37381682		2203	4300	6503	SO:0001583	missense	0			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.74C>T	17.37:g.37381682G>A	ENSP00000327509:p.Ala25Val		Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.A25V	ENST00000333461.5	37	c.74	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	g	15.65	2.897699	0.52121	.	.	ENSG00000141750	ENST00000333461	T	0.79940	-1.32	5.42	2.21	0.28008	.	1.078000	0.07173	N	0.852753	T	0.62307	0.2417	N	0.08118	0	0.21782	N	0.999545	B	0.02656	0.0	B	0.01281	0.0	T	0.52313	-0.8592	10	0.49607	T	0.09	-25.8179	5.0874	0.14691	0.1771:0.0:0.6583:0.1645	.	25	Q6ZMT1	STAC2_HUMAN	V	25	ENSP00000327509:A25V	ENSP00000327509:A25V	A	-	2	0	STAC2	34635208	0.258000	0.24033	0.988000	0.46212	0.988000	0.76386	0.143000	0.16115	0.666000	0.31087	0.455000	0.32223	GCC	STAC2	-	NULL	ENSG00000141750		0.716	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	-	0	74	0	G	NM_198993		37381682	-1	tier1	-	no_errors	ENST00000333461	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.959	A	A	37381682	G	A	37381682	3	1	58	1	0	0	0	0	1	0	0	0	15287	1203	42	3	1205	3	STAC2	17	37381682	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	438542	37381682	43813528	1849	16232											
CDK12	51755	genome.wustl.edu	37	chr17	37650845	37650845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcccaatcacagccattCgtgaaatcaaaatccttcgt	12	11	5	13	2	2	1	2	1	0	0	6	1	4	1	3	0	1	1	3	0	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37650845C>T	ENST00000447079.4	+	5	2350	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	CDK12_ENST00000430627.2_Missense_Mutation_p.R773C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACAGCCATTCGTGAAATCAA	0.393			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													85	74	78					17																	37650845		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2317C>T	17.37:g.37650845C>T	ENSP00000398880:p.Arg773Cys		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R773C	ENST00000447079.4	37	c.2317	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819885	0.71028	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.53857	0.6;0.6	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000149	T	0.81781	0.4895	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.87298	0.2303	10	0.87932	D	0	-8.3609	19.1644	0.93548	0.0:1.0:0.0:0.0	.	772;773;773	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	C	773	ENSP00000407720:R773C;ENSP00000398880:R773C	ENSP00000407720:R773C	R	+	1	0	CDK12	34904371	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.204000	0.72143	2.601000	0.87937	0.561000	0.74099	CGT	CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.393	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0	42	0	C	NM_016507		37650845	1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	T	T	37650845	C	T	37650845	3	4	58	1	0	0	0	0	1	0	0	0	3135	884	31	1	2335	1	CDK12	17	37650845	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	269163	37650845	43544365	1850	16233											
ERBB2	2064	genome.wustl.edu	37	chr17	37866417	37866417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgccatgagcagtgtgCtgccggctgcacgggcccca	5	7	14	15	2	0	1	0	1	0	0	0	1	0	1	4	2	6	5	4	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37866417C>T	ENST00000269571.5	+	6	881	c.722C>T	c.(721-723)gCt>gTt	p.A241V	ERBB2_ENST00000578199.1_Missense_Mutation_p.A211V|ERBB2_ENST00000584450.1_Missense_Mutation_p.A241V|ERBB2_ENST00000584601.1_Missense_Mutation_p.A211V|ERBB2_ENST00000406381.2_Missense_Mutation_p.A211V|ERBB2_ENST00000540042.1_Missense_Mutation_p.A211V|ERBB2_ENST00000541774.1_Missense_Mutation_p.A226V|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Missense_Mutation_p.A211V			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	241					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GAGCAGTGTGCTGCCGGCTGC	0.647		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													59	62	61					17																	37866417		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.722C>T	17.37:g.37866417C>T	ENSP00000269571:p.Ala241Val		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A241V	ENST00000269571.5	37	c.722	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287165	0.59867	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.62	4.62	0.57501	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	D	0.92545	0.7632	M	0.83774	2.66	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.973;0.973;0.999;0.92	D	0.93579	0.6911	9	0.87932	D	0	.	15.2192	0.73296	0.0:0.8583:0.1417:0.0	.	211;226;241;241	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	V	211;226;241;211;211	ENSP00000385185:A211V;ENSP00000446466:A226V;ENSP00000269571:A241V;ENSP00000443562:A211V;ENSP00000446382:A211V	ENSP00000269571:A241V	A	+	2	0	ERBB2	35119943	1.000000	0.71417	0.880000	0.34516	0.979000	0.70002	7.509000	0.81698	1.315000	0.45114	0.467000	0.42956	GCT	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000141736		0.647	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	28	0	C			37866417	1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.999	T	T	37866417	C	T	37866417	3	4	58	1	0	0	0	0	1	0	0	0	5222	797	28	3	744	3	ERBB2	17	37866417	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	215572	37866417	43328793	1851	16234											
ERBB2	2064	genome.wustl.edu	37	chr17	37881000	37881000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatacgtgatggctggtGtgggctccccatatgtctcc	7	11	12	11	1	1	1	0	1	1	0	3	1	2	1	3	3	2	3	3	3	3	2	rs121913471		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37881000G>T	ENST00000269571.5	+	20	2488	c.2329G>T	c.(2329-2331)Gtg>Ttg	p.V777L	ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91	90	90					17																	37881000		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>T	17.37:g.37881000G>T	ENSP00000269571:p.Val777Leu		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V777L	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186331	0.57909	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.19485	0.0468	N	0.00165	-1.945	0.80722	D	1	B;B;B	0.13594	0.003;0.001;0.008	B;B;B	0.15484	0.013;0.002;0.013	T	0.30475	-0.9977	9	0.18710	T	0.47	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	L	747;762;501;777;747	ENSP00000385185:V747L;ENSP00000446466:V762L;ENSP00000404047:V501L;ENSP00000269571:V777L;ENSP00000443562:V747L	ENSP00000269571:V777L	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	99	0	G			37881000	1	tier1	rs121913471	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	30.30	46	20	SNP	1.000	T	T	37881000	G	T	37881000	3	4	58	1	0	0	0	0	1	0	0	0	5222	1377	48	3	2407	3	ERBB2	17	37881000	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	14583	37881000	43314210	1852	16235											
MED24	9862	genome.wustl.edu	37	chr17	38182920	38182920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggactcgaaggccaGgaccccattctcccaggcat	9	7	11	14	1	1	0	0	0	1	0	3	4	1	3	4	5	0	1	4	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:38182920G>T	ENST00000394128.2	-	18	1870	c.1789C>A	c.(1789-1791)Ctg>Atg	p.L597M	MED24_ENST00000501516.3_Missense_Mutation_p.L616M|MED24_ENST00000394126.1_Missense_Mutation_p.L622M|MED24_ENST00000356271.3_Missense_Mutation_p.L584M|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Missense_Mutation_p.L584M	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	597					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TCGAAGGCCAGGACCCCATTC	0.572											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47	37	40					17																	38182920		2203	4300	6503	SO:0001583	missense	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1789C>A	17.37:g.38182920G>T	ENSP00000377686:p.Leu597Met	876	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.L597M	ENST00000394128.2	37	c.1789	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685973	0.29962	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.58797	0.31;0.31;0.31	4.89	2.89	0.33648	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.69700	0.3140	M	0.65498	2.005	0.54753	D	0.999986	D;D;D;D;D	0.76494	0.965;0.999;0.999;0.971;0.999	P;D;D;P;D	0.87578	0.66;0.998;0.997;0.694;0.998	T	0.70360	-0.4893	10	0.72032	D	0.01	-11.3695	8.3331	0.32197	0.24:0.0:0.76:0.0	.	547;507;584;597;539	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	M	597;597;597;547;584;539;68;507	ENSP00000377686:L597M;ENSP00000443344:L547M;ENSP00000377685:L584M	ENSP00000348610:L597M	L	-	1	2	MED24	35436446	1.000000	0.71417	0.929000	0.37066	0.989000	0.77384	3.330000	0.52068	1.041000	0.40125	0.655000	0.94253	CTG	MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.572	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	-	0	58	0	G	NM_014815		38182920	-1	tier1	-	no_errors	ENST00000394128	ensembl	human	known	74_37	missense	43.42	43	33	SNP	0.905	T	T	38182920	G	T	38182920	3	4	58	1	0	0	0	0	1	0	0	0	9480	991	35	3	1216	3	MED24	17	38182920	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	301920	38182920	43012290	1853	16236											
KRT10	3858	genome.wustl.edu	37	chr17	38976864	38976864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatccagcaccctacGcaggccgttgatgtcagcct	8	8	9	16	2	2	1	2	1	0	0	3	1	3	1	4	1	4	4	4	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:38976864G>A	ENST00000269576.5	-	3	775	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	256	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AGCACCCTACGCAGGCCGTTG	0.507																																																	0													105	101	102					17																	38976864		2203	4300	6503	SO:0001583	missense	0			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"-", "Intermediate filaments type I, keratins (acidic)"	6413	protein-coding gene	gene with protein product	"cytokeratin 10", "epidermolytic hyperkeratosis"	148080	"keratosis palmaris et plantaris"	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.766C>T	17.37:g.38976864G>A	ENSP00000269576:p.Arg256Cys		Q14664|Q8N175	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R256C	ENST00000269576.5	37	c.766	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409829	0.83340	.	.	ENSG00000186395	ENST00000269576	D	0.92545	-3.06	5.84	5.84	0.93424	Filament (1);	0.000000	0.36740	N	0.002424	D	0.96562	0.8878	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96510	0.9378	10	0.87932	D	0	.	20.1533	0.98095	0.0:0.0:1.0:0.0	.	256	P13645	K1C10_HUMAN	C	256	ENSP00000269576:R256C	ENSP00000269576:R256C	R	-	1	0	KRT10	36230390	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	5.121000	0.64691	2.758000	0.94735	0.655000	0.94253	CGT	KRT10	-	pfam_IF,prints_Keratin_I	ENSG00000186395		0.507	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	-	0	74	0	G	NM_000421		38976864	-1	tier1	-	no_errors	ENST00000269576	ensembl	human	known	74_37	missense	7.78	83	7	SNP	1.000	A	A	38976864	G	A	38976864	3	1	58	1	0	0	0	0	1	0	0	0	8475	1087	38	1	1012	1	KRT10	17	38976864	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	793944	38976864	42218346	1854	16237											
KRTAP4-3	85290	genome.wustl.edu	37	chr17	39324124	39324124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgcagcagctggggcGgcagcaggtggtcctgcagc	9	5	17	10	1	0	1	0	0	0	1	1	1	1	1	1	5	6	6	1	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39324124G>A	ENST00000391356.2	-	1	300	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	101	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.622																																																	0													11	15	14					17																	39324124		2069	4223	6292	SO:0001583	missense	0			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"Keratin associated proteins"	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.301C>T	17.37:g.39324124G>A	ENSP00000375151:p.Arg101Cys			Missense_Mutation	SNP	pfam_Keratin-assoc	p.R101C	ENST00000391356.2	37	c.301	CCDS42331.1	17	.	.	.	.	.	.	.	.	.	.	.	12.54	1.968747	0.34754	.	.	ENSG00000196156	ENST00000391356	T	0.01455	4.87	4.77	0.261	0.15592	.	0.000000	0.29602	U	0.011693	T	0.02083	0.0065	M	0.62154	1.92	0.09310	N	0.999996	B	0.27140	0.169	B	0.20955	0.032	T	0.40213	-0.9575	10	0.56958	D	0.05	.	4.8401	0.13485	0.169:0.0:0.5342:0.2968	.	101	Q9BYR4	KRA43_HUMAN	C	101	ENSP00000375151:R101C	ENSP00000375151:R101C	R	-	1	0	KRTAP4-3	36577650	0.000000	0.05858	0.122000	0.21767	0.316000	0.28119	-0.826000	0.04429	-0.099000	0.12263	-0.192000	0.12808	CGC	KRTAP4-3	-	NULL	ENSG00000196156		0.622	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-3	HGNC	protein_coding	OTTHUMT00000257784.1	-	0	234	0	G			39324124	-1	tier1	-	no_errors	ENST00000391356	ensembl	human	known	74_37	missense	39.15	129	83	SNP	0.012	A	A	39324124	G	A	39324124	3	1	58	1	0	0	0	0	1	0	0	0	8580	1116	39	1	290	1	KRTAP4-3	17	39324124	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	347260	39324124	41871086	1855	16238											
KRT33A	3883	genome.wustl.edu	37	chr17	39506827	39506827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtagctggccaggcggtCgttcaggaactgcatggtct	7	9	15	10	2	2	0	1	0	1	0	3	1	2	1	1	6	3	4	1	6	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39506827C>T	ENST00000007735.3	-	1	237	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	65	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.622																																																	0													100	102	101					17																	39506827		2203	4300	6503	SO:0001583	missense	0			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.193G>A	17.37:g.39506827C>T	ENSP00000007735:p.Asp65Asn		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.D65N	ENST00000007735.3	37	c.193	CCDS11388.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241862	0.79912	.	.	ENSG00000006059	ENST00000007735	D	0.91945	-2.94	5.22	3.24	0.37175	Filament (1);	0.164354	0.43416	N	0.000577	D	0.90191	0.6934	L	0.46741	1.465	0.38101	D	0.93727	B	0.28258	0.205	B	0.38458	0.274	D	0.89158	0.3528	10	0.62326	D	0.03	.	11.6259	0.51145	0.0:0.8556:0.0:0.1444	.	65	O76009	KT33A_HUMAN	N	65	ENSP00000007735:D65N	ENSP00000007735:D65N	D	-	1	0	KRT33A	36760353	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	3.932000	0.56537	0.911000	0.36747	-0.133000	0.14855	GAC	KRT33A	-	pfam_IF	ENSG00000006059		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33A	HGNC	protein_coding	OTTHUMT00000257295.1	-	0	147	0	C	NM_004138		39506827	-1	tier1	-	no_errors	ENST00000007735	ensembl	human	known	74_37	missense	36.23	87	50	SNP	1.000	T	T	39506827	C	T	39506827	3	4	58	1	0	0	0	0	1	0	0	0	8496	884	31	1	1049	1	KRT33A	17	39506827	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	182703	39506827	41688383	1856	16239											
KRT9	3857	genome.wustl.edu	37	chr17	39728172	39728172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaccttatgctgccccCgctgcccaggccgcccccgc	5	5	11	20	3	0	1	0	0	0	1	0	2	0	2	7	2	3	2	7	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39728172C>T	ENST00000246662.4	-	1	138	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	25	Head.|Poly-Gly.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATGCTGCCCCCGCTGCCCAGG	0.652																																																	0																																										SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.73G>A	17.37:g.39728172C>T	ENSP00000246662:p.Gly25Arg		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.G25R	ENST00000246662.4	37	c.73	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266719	0.23136	.	.	ENSG00000171403	ENST00000246662	T	0.80738	-1.41	4.65	2.57	0.30868	.	.	.	.	.	T	0.71913	0.3396	L	0.49126	1.545	0.24063	N	0.996004	B	0.25486	0.127	B	0.17098	0.017	T	0.64449	-0.6405	9	0.87932	D	0	.	5.1885	0.15197	0.2008:0.6143:0.0:0.185	.	25	P35527	K1C9_HUMAN	R	25	ENSP00000246662:G25R	ENSP00000246662:G25R	G	-	1	0	KRT9	36981698	0.000000	0.05858	0.603000	0.28903	0.029000	0.11900	-0.596000	0.05720	0.907000	0.36646	0.591000	0.81541	GGG	KRT9	-	NULL	ENSG00000171403		0.652	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1		0	12	0	C	NM_000226		39728172	-1			no_errors	ENST00000246662	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.052	T	T	39728172	C	T	39728172	3	4	58	1	0	0	0	0	1	0	0	0	8528	652	23	1	1826	1	KRT9	17	39728172	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	221345	39728172	41467038	1857	16240											
HAP1	9001	genome.wustl.edu	37	chr17	39890494	39890494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaacgtaggcggctggCgtcttccagatgcccgctgc	5	7	14	15	5	1	1	0	0	1	1	2	1	2	1	3	4	3	3	3	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39890494C>T	ENST00000310778.5	-	1	402	c.393G>A	c.(391-393)acG>acA	p.T131T	HAP1_ENST00000347901.4_Silent_p.T131T|HAP1_ENST00000393939.2_Silent_p.T131T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T131T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	131	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGGCGGCTGGCGTCTTCCAGA	0.687																																																	0													7	11	9					17																	39890494		2161	4218	6379	SO:0001819	synonymous_variant	0			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.393G>A	17.37:g.39890494C>T			A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	pfam_HAP1_N	p.T131	ENST00000310778.5	37	c.393		17																																																																																			HAP1	-	pfam_HAP1_N	ENSG00000173805		0.687	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1		0	13	0	C	NM_003949		39890494	-1			no_errors	ENST00000310778	ensembl	human	known	74_37	silent	42.86	4	3	SNP	0.000	T	T	39890494	C	T	39890494	2	4	58	1	0	0	0	0	0	0	0	1	6980	755	27	1		1	HAP1	17	39890494	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	162322	39890494	41304716	1858	16241											
ACLY	47	genome.wustl.edu	37	chr17	40066524	40066524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttcttgaggaagcctGtggccttgccaacctacaga	11	9	11	10	0	1	2	0	1	1	1	1	4	1	3	4	2	4	1	4	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40066524G>T	ENST00000352035.2	-	4	426	c.296C>A	c.(295-297)aCa>aAa	p.T99K	ACLY_ENST00000590151.1_Missense_Mutation_p.T99K|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.T99K|ACLY_ENST00000353196.1_Missense_Mutation_p.T99K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	99	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGAAGCCTGTGGCCTTGCC	0.582																																					Colon(64;807 1396 15971 30971)												0													56	55	55					17																	40066524		2203	4300	6503	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"ATP citrate synthase"	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.296C>A	17.37:g.40066524G>T	ENSP00000253792:p.Thr99Lys		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.T99K	ENST00000352035.2	37	c.296	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	G	5.944	0.358174	0.11239	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.63096	-0.02;-0.02;-0.02	5.77	-7.23	0.01480	ATP-grasp fold, subdomain 2 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.281899	0.43919	N	0.000510	T	0.22898	0.0553	N	0.02765	-0.5	0.21020	N	0.99981	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.40289	-0.9571	10	0.06625	T	0.88	.	7.9469	0.29991	0.0:0.244:0.2922:0.4638	.	153;153;99;99	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	K	99;153;99;99	ENSP00000253792:T99K;ENSP00000345398:T99K;ENSP00000377474:T99K	ENSP00000253792:T99K	T	-	2	0	ACLY	37320050	0.600000	0.26899	0.650000	0.29550	0.964000	0.63967	0.355000	0.20163	-1.393000	0.02079	-0.976000	0.02587	ACA	ACLY	-	pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase	ENSG00000131473		0.582	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	-	0	53	0	G	NM_001096		40066524	-1	tier1	-	no_errors	ENST00000352035	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.833	T	T	40066524	G	T	40066524	3	4	58	1	0	0	0	0	1	0	0	0	143	1377	48	3	3113	3	ACLY	17	40066524	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	176030	40066524	41128686	1859	16242											
STAT5A	6776	genome.wustl.edu	37	chr17	40459723	40459723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgggggcatcaccatcGcctggaagtttgactcccgt	9	9	11	12	3	1	1	1	1	0	0	4	2	2	2	3	3	0	2	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40459723G>A	ENST00000345506.4	+	16	2530	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	STAT5A_ENST00000590949.1_Missense_Mutation_p.A630T|STAT5A_ENST00000452307.2_Missense_Mutation_p.A627T|STAT5A_ENST00000588868.1_Missense_Mutation_p.A599T|STAT5A_ENST00000546010.2_Missense_Mutation_p.A600T|STAT5A_ENST00000587646.1_Missense_Mutation_p.A118T	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	630	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CATCACCATCGCCTGGAAGTT	0.592																																																	0													65	57	60					17																	40459723		2203	4300	6503	SO:0001583	missense	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1888G>A	17.37:g.40459723G>A	ENSP00000341208:p.Ala630Thr		Q1KLZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.A630T	ENST00000345506.4	37	c.1888	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.118805	0.94385	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.96774	-4.12;-4.12;-4.12	4.94	4.94	0.65067	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	L	0.38531	1.155	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;1.0;0.996;0.997	P;D;D;D;D	0.85130	0.856;0.995;0.997;0.957;0.917	D	0.96341	0.9251	10	0.35671	T	0.21	-31.7291	18.5174	0.90939	0.0:0.0:1.0:0.0	.	630;627;600;601;630	A8K6I5;Q8WWS9;Q1KLZ6;Q59GY7;P42229	.;.;.;.;STA5A_HUMAN	T	630;600;601;627	ENSP00000341208:A630T;ENSP00000443107:A600T;ENSP00000400320:A627T	ENSP00000341208:A630T	A	+	1	0	STAT5A	37713249	1.000000	0.71417	0.994000	0.49952	0.895000	0.52256	9.699000	0.98703	2.456000	0.83038	0.491000	0.48974	GCC	STAT5A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000126561		0.592	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	-	0	31	0	G	NM_003152		40459723	1	tier1	-	no_errors	ENST00000345506	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	A	A	40459723	G	A	40459723	3	1	58	1	0	0	0	0	1	0	0	0	15315	1087	38	1	1942	1	STAT5A	17	40459723	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	393199	40459723	40735487	1860	16243											
HSD17B1	3292	genome.wustl.edu	37	chr17	40706467	40706469	+	In_Frame_Del	DEL	AGA	AGA	-																															agtgcacaccgccttcatggAgaaggtgttgggcagcccag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40706467_40706469delAGA	ENST00000585807.1	+	5	4304_4306	c.584_586delAGA	c.(583-588)gagaag>gag	p.K196del	RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_In_Frame_Del_p.K197del|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	196					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GCCTTCATGGAGAAGGTGTTGGG	0.645																																																	0																																										SO:0001651	inframe_deletion	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.584_586delAGA	17.37:g.40706467_40706469delAGA	ENSP00000466799:p.Lys196del		B3KXS1|Q2M2L8	In_Frame_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.K196in_frame_del	ENST00000585807.1	37	c.584_586	CCDS11428.1	17																																																																																			HSD17B1	-	pirsf_17beta_DH	ENSG00000108786		0.645	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	HGNC	protein_coding	OTTHUMT00000450392.1		0	72	0	AGA	NM_000413		40706469	1	tier1		no_errors	ENST00000585807	ensembl	human	known	74_37	in_frame_del	33.33	40	20	DEL	0.189:0.353:0.739	-	-	40706469	AGA	-	40706467	7	5	58	1	0	1	0	1	0	0	0	0	7405	304	11	0	602	0	HSD17B1	17	40706467	In_Frame_Del	DEL	AGA	TCGA-L5-A4OI-01A-11D-A27G-09	246744	40706467	40488743	1861	16244											
TUBG2	27175	genome.wustl.edu	37	chr17	40818799	40818799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagactacatttcctGgggcacccaggagcagtgat	10	7	11	13	0	0	2	0	1	0	1	1	3	1	3	4	3	3	2	4	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40818799G>T	ENST00000251412.7	+	11	1536	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	446					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TACATTTCCTGGGGCACCCAG	0.542																																																	0													96	75	82					17																	40818799		2203	4300	6503	SO:0001583	missense	0			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"Tubulins"	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1337G>T	17.37:g.40818799G>T	ENSP00000251412:p.Trp446Leu		A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.W446L	ENST00000251412.7	37	c.1337	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548817	0.65311	.	.	ENSG00000037042	ENST00000251412	T	0.76316	-1.01	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.70275	2.135	0.80722	D	1	P	0.34892	0.474	B	0.23716	0.048	T	0.79396	-0.1821	10	0.66056	D	0.02	-20.4681	18.232	0.89937	0.0:0.0:1.0:0.0	.	446	Q9NRH3	TBG2_HUMAN	L	446	ENSP00000251412:W446L	ENSP00000251412:W446L	W	+	2	0	TUBG2	38072325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.483000	0.97937	2.537000	0.85549	0.561000	0.74099	TGG	TUBG2	-	NULL	ENSG00000037042		0.542	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	-	0	70	0	G	NM_016437		40818799	1	tier1	-	no_errors	ENST00000251412	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	40818799	G	T	40818799	3	4	58	1	0	0	0	0	1	0	0	0	16814	1357	47	3	1379	3	TUBG2	17	40818799	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	112332	40818799	40376411	1862	16245											
CNTNAP1	8506	genome.wustl.edu	37	chr17	40844640	40844640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggctgaaatcaacgtgaAgcaggcccggctccgagtgg	9	5	15	12	4	1	2	1	2	0	0	2	3	2	2	3	4	2	3	3	4	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40844640A>G	ENST00000264638.4	+	17	2871	c.2654A>G	c.(2653-2655)aAg>aGg	p.K885R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	885	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATCAACGTGAAGCAGGCCCGG	0.562																																																	0													120	110	113					17																	40844640		2203	4300	6503	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2654A>G	17.37:g.40844640A>G	ENSP00000264638:p.Lys885Arg			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.K885R	ENST00000264638.4	37	c.2654	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	A	31	5.096374	0.94197	.	.	ENSG00000108797	ENST00000264638	T	0.78246	-1.16	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.85053	0.5609	L	0.53729	1.69	0.52501	D	0.999954	D	0.89917	1.0	D	0.79784	0.993	D	0.84012	0.0349	10	0.36615	T	0.2	.	15.9478	0.79806	1.0:0.0:0.0:0.0	.	885	P78357	CNTP1_HUMAN	R	885	ENSP00000264638:K885R	ENSP00000264638:K885R	K	+	2	0	CNTNAP1	38098166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.165000	0.68154	0.459000	0.35465	AAG	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1		0	70	0	A	NM_003632		40844640	1			no_errors	ENST00000264638	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	G	G	40844640	A	G	40844640	3	3	58	1	0	0	0	0	1	0	0	0	3653	72	3	4	2720	4	CNTNAP1	17	40844640	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	25841	40844640	40350570	1863	16246											
AOC2	314	genome.wustl.edu	37	chr17	40996995	40996995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggagccccccacctgccCgggaggcactggccatcgtc	5	4	15	17	2	0	0	0	0	0	0	2	2	0	2	6	5	2	1	6	5	0	0	rs200726584		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40996995C>T	ENST00000253799.3	+	1	379	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	AOC2_ENST00000452774.2_Missense_Mutation_p.R118W	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	118					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCCACCTGCCCGGGAGGCACT	0.667																																																	0													28	31	30					17																	40996995		2202	4295	6497	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.352C>T	17.37:g.40996995C>T	ENSP00000253799:p.Arg118Trp		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R118W	ENST00000253799.3	37	c.352	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655498	0.29425	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.77620	-1.11;-1.11	5.01	2.98	0.34508	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.059412	0.64402	D	0.000005	D	0.87884	0.6290	M	0.89601	3.045	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86816	0.2001	10	0.87932	D	0	-45.3085	7.473	0.27359	0.4151:0.5091:0.0:0.0758	.	118;118	O75106;O75106-2	AOC2_HUMAN;.	W	118	ENSP00000253799:R118W;ENSP00000406134:R118W	ENSP00000253799:R118W	R	+	1	2	AOC2	38250521	0.193000	0.23313	0.992000	0.48379	0.083000	0.17756	0.703000	0.25646	0.667000	0.31107	-0.251000	0.11542	CGG	AOC2	-	pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000131480		0.667	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	-	0	80	0	C	NM_009590, NM_001158		40996995	1	tier1	rs200726584	no_errors	ENST00000253799	ensembl	human	known	74_37	missense	38.64	27	17	SNP	0.999	T	T	40996995	C	T	40996995	3	4	58	1	0	0	0	0	1	0	0	0	727	643	23	1	354	1	AOC2	17	40996995	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	152355	40996995	40198215	1864	16247											
GRN	2896	genome.wustl.edu	37	chr17	42428095	42428095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgtgtccggacgcacGgtcccggtgccctgatggtt	4	10	15	12	4	1	1	1	1	0	0	3	2	3	2	3	5	1	2	3	5	0	1	rs63750787	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:42428095G>A	ENST00000053867.3	+	7	697	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	212					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGGACGCACGGTCCCGGTGC	0.602											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG	0,4406		0,0,2203	113	90	98	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	635	-6.6	0	17	dbSNP_130	98	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GRN	NM_002087.2	43	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	212/594	42428095	5,13001	2203	4300	6503	SO:0001583	missense	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.635G>A	17.37:g.42428095G>A	ENSP00000053867:p.Arg212Gln	908	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.R212Q	ENST00000053867.3	37	c.635	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032023	0.35893	0.0	5.81E-4	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.69926	-0.44	5.12	-6.62	0.01813	Granulin (1);	1.275610	0.05326	N	0.527529	T	0.48003	0.1476	L	0.31294	0.92	0.09310	N	0.999991	B;B	0.19935	0.033;0.04	B;B	0.12156	0.002;0.007	T	0.35475	-0.9787	10	0.13108	T	0.6	-4.6638	10.4168	0.44327	0.6856:0.108:0.2064:0.0	rs63750787	149;212	B4DJI2;P28799	.;GRN_HUMAN	Q	212	ENSP00000053867:R212Q	ENSP00000053867:R212Q	R	+	2	0	GRN	39783621	0.000000	0.05858	0.001000	0.08648	0.598000	0.36846	-1.597000	0.02089	-1.418000	0.02014	0.462000	0.41574	CGG	GRN	-	smart_Granulin	ENSG00000030582		0.602	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	-	0	56	0	G	NM_002087		42428095	1	tier1	rs63750787	no_errors	ENST00000053867	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.000	A	A	42428095	G	A	42428095	3	1	58	1	0	0	0	0	1	0	0	0	6831	1116	39	1	657	1	GRN	17	42428095	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1431100	42428095	38767115	1865	16248											
CCDC43	124808	genome.wustl.edu	37	chr17	42756261	42756261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgtgtccttttttttTccttttccttgcgctcctgc	0	22	5	14	1	1	0	0	0	1	0	6	0	5	0	4	0	2	1	4	0	0	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:42756261T>C	ENST00000315286.8	-	5	646	c.638A>G	c.(637-639)gAa>gGa	p.E213G	CCDC43_ENST00000588210.1_Missense_Mutation_p.E216G|RP11-1072C15.4_ENST00000591628.1_RNA|CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	213										lung(2)	2		Prostate(33;0.0322)				CCTTTTTTTTTCCTTTTCCTT	0.478																																																	0													94	96	95					17																	42756261		1938	4136	6074	SO:0001583	missense	0			AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.638A>G	17.37:g.42756261T>C	ENSP00000323782:p.Glu213Gly		C9JVK9	Missense_Mutation	SNP	NULL	p.E213G	ENST00000315286.8	37	c.638	CCDS45704.1	17	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056025	0.76074	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82975	-0.0190	9	0.87932	D	0	-17.3138	15.7887	0.78332	0.0:0.0:0.0:1.0	.	213	Q96MW1	CCD43_HUMAN	G	213	.	ENSP00000323782:E213G	E	-	2	0	CCDC43	40111787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.097000	0.76967	2.367000	0.80283	0.528000	0.53228	GAA	CCDC43	-	NULL	ENSG00000180329		0.478	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	HGNC	protein_coding	OTTHUMT00000457812.1		0	83	0	T	NM_144609		42756261	-1			no_errors	ENST00000315286	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	C	C	42756261	T	C	42756261	3	2	58	1	0	0	0	0	1	0	0	0	2822	1783	62	4	40	4	CCDC43	17	42756261	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	328166	42756261	38438949	1866	16249											
DCAKD	79877	genome.wustl.edu	37	chr17	43107517	43107518	+	Frame_Shift_Ins	INS	-	-	G																															cttcttggtctcaaacagcaINSgggggatatccagaatcacg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:43107517_43107518insG	ENST00000452796.2	-	3	601_602	c.346_347insC	c.(346-348)ctgfs	p.L116fs	DCAKD_ENST00000588499.1_Frame_Shift_Ins_p.L116fs|DCAKD_ENST00000342350.5_Frame_Shift_Ins_p.L116fs			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	116	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CTCAAACAGCAGGGGGATATCC	0.53																																																	0																																										SO:0001589	frameshift_variant	0			BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.347dupC	17.37:g.43107522_43107522dupG	ENSP00000413483:p.Leu116fs		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Frame_Shift_Ins	INS	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	p.L116fs	ENST00000452796.2	37	c.347_346	CCDS11493.1	17																																																																																			DCAKD	-	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	ENSG00000172992		0.53	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DCAKD	HGNC	protein_coding	OTTHUMT00000449066.1		0	124	0	-	NM_024819		43107518	-1	tier1		no_errors	ENST00000342350	ensembl	human	known	74_37	frame_shift_ins	34.35	86	45	INS	1.000:1.000	G	G	43107518	-	G	43107517	7	5	58	1	0	1	1	0	0	0	0	0	4288	188	7	0	356	0	DCAKD	17	43107517	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	351256	43107517	38087693	1867	16250											
FMNL1	752	genome.wustl.edu	37	chr17	43319736	43319736	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaagaagcccatccagacTaagttccgaatgccactctt	12	8	7	14	1	1	2	0	0	1	2	3	3	3	2	5	0	2	1	5	0	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:43319736T>C	ENST00000331495.3	+	16	2250	c.1914T>C	c.(1912-1914)acT>acC	p.T638T	FMNL1_ENST00000587489.1_Silent_p.T216T|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Silent_p.T638T|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	638	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCATCCAGACTAAGTTCCGAA	0.592																																					GBM(164;1247 1997 8702 11086 51972)												0													89	76	80					17																	43319736		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1914T>C	17.37:g.43319736T>C			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.T638	ENST00000331495.3	37	c.1914	CCDS11497.1	17																																																																																			FMNL1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000184922		0.592	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	-	0	69	0	T	NM_005892		43319736	1	tier1	-	no_errors	ENST00000328118	ensembl	human	known	74_37	silent	47.06	18	16	SNP	1.000	C	C	43319736	T	C	43319736	2	2	58	1	0	0	0	0	0	0	0	1	5973	1509	53	4		4	FMNL1	17	43319736	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	212219	43319736	37875474	1868	16251											
LRRC37A2	474170	genome.wustl.edu	37	chr17	44632696	44632696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctctggtttaaagatatgTacaaacctctcagtgccaca	12	11	7	11	1	2	1	1	0	2	1	3	1	2	1	2	1	3	3	2	1	5	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:44632696T>C	ENST00000576629.1	+	14	5455	c.4960T>C	c.(4960-4962)Tac>Cac	p.Y1654H	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.Y1654H			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1654						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TAAAGATATGTACAAACCTCT	0.423																																																	0													110	179	156					17																	44632696		2052	4155	6207	SO:0001583	missense	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4960T>C	17.37:g.44632696T>C	ENSP00000459551:p.Tyr1654His		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y1654H	ENST00000576629.1	37	c.4960	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	t	11.43	1.635949	0.29068	.	.	ENSG00000238083	ENST00000333412	T	0.63580	-0.05	2.28	-0.264	0.12950	.	.	.	.	.	T	0.67183	0.2866	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.999;0.971	D;P	0.76071	0.987;0.641	T	0.55003	-0.8208	9	0.87932	D	0	.	4.7611	0.13108	0.0:0.3252:0.0:0.6748	.	615;1654	B3KRJ4;A6NM11	.;L37A2_HUMAN	H	1654	ENSP00000333071:Y1654H	ENSP00000333071:Y1654H	Y	+	1	0	LRRC37A2	41988012	0.006000	0.16342	0.000000	0.03702	0.046000	0.14306	0.748000	0.26305	-0.082000	0.12640	0.128000	0.15822	TAC	LRRC37A2	-	NULL	ENSG00000238083		0.423	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	-	0	61	0	T	NM_001006607		44632696	1	tier1	-	no_errors	ENST00000333412	ensembl	human	known	74_37	missense	81.54	11	53	SNP	0.000	C	C	44632696	T	C	44632696	3	2	58	1	0	0	0	0	1	0	0	0	9027	1638	57	4	5010	4	LRRC37A2	17	44632696	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1312960	44632696	36562514	1869	16252											
WNT9B	7484	genome.wustl.edu	37	chr17	44952482	44952482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggcttcaaagagacagCtttcctgtacgcggtgtcct	8	11	10	12	2	1	1	1	0	0	1	4	2	4	1	3	2	2	3	3	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:44952482C>T	ENST00000290015.2	+	3	403	c.350C>T	c.(349-351)gCt>gTt	p.A117V	WNT9B_ENST00000393461.2_Missense_Mutation_p.A117V	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	117					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AAAGAGACAGCTTTCCTGTAC	0.652																																																	0													105	123	117					17																	44952482		2202	4296	6498	SO:0001583	missense	0			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.350C>T	17.37:g.44952482C>T	ENSP00000290015:p.Ala117Val		Q6UXT4|Q96Q09	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.A117V	ENST00000290015.2	37	c.350	CCDS11506.1	17	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294203	0.81025	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	D;D	0.82711	-1.64;-1.64	4.61	4.61	0.57282	.	0.050891	0.85682	D	0.000000	D	0.92779	0.7704	H	0.96805	3.885	0.80722	D	1	D;P	0.53151	0.958;0.834	P;P	0.54590	0.756;0.653	D	0.95290	0.8394	10	0.87932	D	0	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	117;117	E7EPC3;O14905	.;WNT9B_HUMAN	V	111;117;117	ENSP00000377105:A117V;ENSP00000290015:A117V	ENSP00000290015:A117V	A	+	2	0	WNT9B	42307481	1.000000	0.71417	0.997000	0.53966	0.288000	0.27193	7.604000	0.82830	2.550000	0.86006	0.462000	0.41574	GCT	WNT9B	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000158955		0.652	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9B	HGNC	protein_coding	OTTHUMT00000440433.1		0	96	0	C	NM_003396		44952482	1			no_errors	ENST00000290015	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	44952482	C	T	44952482	3	4	58	1	0	0	0	0	1	0	0	0	17448	797	28	3	360	3	WNT9B	17	44952482	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	319786	44952482	36242728	1870	16253											
OSBPL7	114881	genome.wustl.edu	37	chr17	45885767	45885767	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctatccgtctgccgccTggtgggagaaggcggtggca	5	8	17	11	3	1	1	0	0	1	1	2	2	2	1	3	5	2	3	3	5	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:45885767T>G	ENST00000007414.3	-	23	2612		c.e23-2		OSBPL7_ENST00000392507.3_Splice_Site	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7						cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTGCCGCCTGGTGGGAGAA	0.627																																																	0													60	57	58					17																	45885767		2203	4300	6503	SO:0001630	splice_region_variant	0			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2421-2A>C	17.37:g.45885767T>G			D3DTT6|Q6PIV6	Splice_Site	SNP	-	e22-2	ENST00000007414.3	37	c.2421-2	CCDS11515.1	17	.	.	.	.	.	.	.	.	.	.	T	16.43	3.119814	0.56613	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1595	0.59537	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL7	43240766	1.000000	0.71417	0.997000	0.53966	0.569000	0.35902	6.261000	0.72509	2.111000	0.64477	0.454000	0.30748	.	OSBPL7	-	-	ENSG00000006025		0.627	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL7	HGNC	protein_coding	OTTHUMT00000441367.1	-	0	56	0	T	NM_017731	Intron	45885767	-1	tier1	-	no_errors	ENST00000007414	ensembl	human	known	74_37	splice_site	37.93	36	22	SNP	1.000	G	G	45885767	T	G	45885767	5	3	58	1	0	0	0	0	0	0	1	0	11321	1594	55	4	113	4	OSBPL7	17	45885767	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	933285	45885767	35309443	1871	16254											
SCRN2	90507	genome.wustl.edu	37	chr17	45915676	45915676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggctgcctggtgtccaCggtagagggtatgccgacga	7	7	16	11	3	0	1	0	0	0	1	1	3	1	1	4	4	2	3	4	4	2	2	rs374214556		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:45915676C>T	ENST00000290216.9	-	7	1204	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	SCRN2_ENST00000584123.1_Missense_Mutation_p.R368H|SCRN2_ENST00000407215.3_Missense_Mutation_p.R360H	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	360						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CTGGTGTCCACGGTAGAGGGT	0.622																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	63	65	64		1079,1079	2.5	0.1	17		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SCRN2	NM_001145023.1,NM_138355.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	360/379,360/426	45915676	1,13005	2203	4300	6503	SO:0001583	missense	0			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1079G>A	17.37:g.45915676C>T	ENSP00000290216:p.Arg360His		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.R360H	ENST00000290216.9	37	c.1079	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508717	0.27036	0.0	1.16E-4	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.08896	3.14;3.04	5.66	2.55	0.30701	.	0.499362	0.22386	N	0.060756	T	0.10551	0.0258	M	0.69823	2.125	0.09310	N	1	P;D;P	0.53151	0.909;0.958;0.909	B;B;B	0.42030	0.306;0.373;0.306	T	0.18681	-1.0329	10	0.66056	D	0.02	-4.0E-4	6.8601	0.24062	0.1323:0.6697:0.1275:0.0705	.	360;360;360	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	H	360	ENSP00000290216:R360H;ENSP00000383935:R360H	ENSP00000290216:R360H	R	-	2	0	SCRN2	43270675	0.000000	0.05858	0.098000	0.21074	0.236000	0.25371	0.157000	0.16402	0.322000	0.23283	-0.176000	0.13171	CGT	SCRN2	-	NULL	ENSG00000141295		0.622	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	-	0	67	0	C	NM_138355		45915676	-1	tier1	-	no_errors	ENST00000290216	ensembl	human	known	74_37	missense	53.85	18	21	SNP	0.002	T	T	45915676	C	T	45915676	3	4	58	1	0	0	0	0	1	0	0	0	13984	536	19	1	224	1	SCRN2	17	45915676	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	29909	45915676	35279534	1872	16255											
FAM117A	81558	genome.wustl.edu	37	chr17	47795063	47795063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcccggtgcccatcaGggatatcaaggatctaacgg	9	7	14	11	2	3	0	2	0	1	0	3	2	3	2	2	6	2	0	2	6	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:47795063G>T	ENST00000240364.2	-	6	801	c.722C>A	c.(721-723)cCt>cAt	p.P241H	FAM117A_ENST00000514018.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_De_novo_Start_OutOfFrame	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	241										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GTGCCCATCAGGGATATCAAG	0.592																																																	0													53	55	54					17																	47795063		2203	4300	6503	SO:0001583	missense	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.722C>A	17.37:g.47795063G>T	ENSP00000240364:p.Pro241His		B7Z7Q3	Missense_Mutation	SNP	NULL	p.P241H	ENST00000240364.2	37	c.722	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245474	0.39697	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	4.9	4.9	0.64082	.	0.070016	0.64402	D	0.000020	T	0.77798	0.4184	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80299	-0.1441	9	0.87932	D	0	-11.2919	15.1158	0.72401	0.0:0.0:1.0:0.0	.	241	Q9C073	F117A_HUMAN	H	241;131;209	.	ENSP00000240364:P241H	P	-	2	0	FAM117A	45150062	1.000000	0.71417	0.828000	0.32881	0.038000	0.13279	5.520000	0.67080	2.543000	0.85770	0.655000	0.94253	CCT	FAM117A	-	NULL	ENSG00000121104		0.592	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0	72	0	G	NM_030802		47795063	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.985	T	T	47795063	G	T	47795063	3	4	58	1	0	0	0	0	1	0	0	0	5428	1000	35	3	651	3	FAM117A	17	47795063	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1879387	47795063	33400147	1873	16256											
TAC4	255061	genome.wustl.edu	37	chr17	47918915	47918915	+	Splice_Site	DEL	T	T	-																															aggtttgggcaatacttaccTttttttctccttggctggat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:47918915delT	ENST00000334568.4	-	3	248	c.249delA	c.(247-249)aaa>aa	p.K83fs	TAC4_ENST00000436235.1_Splice_Site_p.K77fs|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000326219.5_Splice_Site_p.K77fs|TAC4_ENST00000398154.1_Intron	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						AATACTTACCTTTTTTTCTCC	0.552																																																	0													113	119	117					17																	47918915		1933	4137	6070	SO:0001630	splice_region_variant	0			AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"Endogenous ligands"	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.250+1A>-	17.37:g.47918915delT				Frame_Shift_Del	DEL	NULL	p.A84fs	ENST00000334568.4	37	c.249	CCDS42357.1	17																																																																																			TAC4	-	NULL	ENSG00000176358		0.552	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAC4	HGNC	protein_coding	OTTHUMT00000366198.1		0	219	0	T	NM_170685	Frame_Shift_Del	47918915	-1	tier1		no_errors	ENST00000334568	ensembl	human	known	74_37	frame_shift_del	33.60	164	83	DEL	0.021	-	-	47918915	T	-	47918915	8	5	58	1	0	1	0	1	0	0	1	0	15547	1623	56	0	104	0	TAC4	17	47918915	Splice_Site	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	123852	47918915	33276295	1874	16257											
SAMD14	201191	genome.wustl.edu	37	chr17	48191580	48191581	+	Frame_Shift_Ins	INS	-	-	G																															gactgagacagcgtgtggtaINSggggtaagaacatttggcct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48191580_48191581insG	ENST00000330175.4	-	8	1229_1230	c.912_913insC	c.(910-915)ccctacfs	p.Y305fs	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Frame_Shift_Ins_p.Y333fs	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	305										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGCGTGTGGTAGGGGTAAGAAC	0.599																																																	0																																										SO:0001589	frameshift_variant	0				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"Sterile alpha motif (SAM) domain containing"	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.913dupC	17.37:g.48191584_48191584dupG	ENSP00000329144:p.Tyr305fs		A5D8V1|Q8N2X0	Frame_Shift_Ins	INS	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Y332fs	ENST00000330175.4	37	c.997_996	CCDS58562.1	17																																																																																			SAMD14	-	NULL	ENSG00000167100		0.599	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD14	HGNC	protein_coding	OTTHUMT00000366661.1		0	36	0	-	NM_174920		48191581	-1	tier1		no_errors	ENST00000503131	ensembl	human	known	74_37	frame_shift_ins	34.62	17	9	INS	1.000:1.000	G	G	48191581	-	G	48191580	7	5	58	1	0	1	1	0	0	0	0	0	13864	420	15	0	352	0	SAMD14	17	48191580	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	272665	48191580	33003630	1875	16258											
XYLT2	64132	genome.wustl.edu	37	chr17	48431259	48431259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaggcgctggtaggggCagctggcttcccaccacacg	6	6	17	12	2	0	0	0	0	0	0	1	1	1	1	2	7	1	5	2	7	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48431259C>T	ENST00000017003.2	+	2	453	c.404C>T	c.(403-405)gCa>gTa	p.A135V	XYLT2_ENST00000507602.1_Missense_Mutation_p.A135V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	135					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CTGGTAGGGGCAGCTGGCTTC	0.711																																																	0													15	18	17					17																	48431259		2185	4269	6454	SO:0001583	missense	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.404C>T	17.37:g.48431259C>T	ENSP00000017003:p.Ala135Val		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.A135V	ENST00000017003.2	37	c.404	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	14.14	2.448037	0.43429	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11604	3.37;2.76	4.38	4.38	0.52667	.	0.203057	0.41938	D	0.000794	T	0.05868	0.0153	N	0.08118	0	0.34861	D	0.742589	B	0.17852	0.024	B	0.12156	0.007	T	0.30679	-0.9970	10	0.22109	T	0.4	-14.4865	12.948	0.58384	0.0:0.8372:0.1628:0.0	.	135	Q9H1B5	XYLT2_HUMAN	V	135	ENSP00000017003:A135V;ENSP00000426501:A135V	ENSP00000017003:A135V	A	+	2	0	XYLT2	45786258	0.386000	0.25180	0.907000	0.35723	0.895000	0.52256	1.827000	0.39102	2.286000	0.76751	0.313000	0.20887	GCA	XYLT2	-	NULL	ENSG00000015532		0.711	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	-	0	19	0	C	NM_022167		48431259	1	tier1	-	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.811	T	T	48431259	C	T	48431259	3	4	58	1	0	0	0	0	1	0	0	0	17513	710	25	3	410	3	XYLT2	17	48431259	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	239679	48431259	32763951	1876	16259											
XYLT2	64132	genome.wustl.edu	37	chr17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-																															ttccacctgtatggcagctaCccccccggcacgccagccct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602																																																	1	Insertion - Frameshift(1)	large_intestine(1)											65	65	65					17																	48433967		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1578delC	17.37:g.48433967delC	ENSP00000017003:p.Tyr526fs		Q6UY41|Q86V00	Frame_Shift_Del	DEL	pfam_XylT,pfam_Glyco_trans_14	p.G529fs	ENST00000017003.2	37	c.1578	CCDS11563.1	17																																																																																			XYLT2	-	pfam_XylT	ENSG00000015532		0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1		0	35	0	C	NM_022167		48433967	1	tier1		no_errors	ENST00000017003	ensembl	human	known	74_37	frame_shift_del	62.50	9	15	DEL	1.000	-	-	48433967	C	-	48433967	7	5	58	1	0	1	0	1	0	0	0	0	17513	518	18	0	1608	0	XYLT2	17	48433967	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	2708	48433967	32761243	1877	16260											
RSAD1	55316	genome.wustl.edu	37	chr17	48559705	48559705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcgcccaggtgcagcgggGtgcccttccagcccctgacc	4	7	12	18	2	0	1	0	1	0	0	2	1	1	1	6	3	4	1	6	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48559705G>T	ENST00000258955.2	+	4	813	c.728G>T	c.(727-729)gGt>gTt	p.G243V		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	243					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGCAGCGGGGTGCCCTTCCA	0.662											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	60	58					17																	48559705		2203	4300	6503	SO:0001583	missense	0			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.728G>T	17.37:g.48559705G>T	ENSP00000258955:p.Gly243Val	955	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.G243V	ENST00000258955.2	37	c.728	CCDS11569.1	17	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384527	0.61845	.	.	ENSG00000136444	ENST00000258955	T	0.30182	1.54	5.37	5.37	0.77165	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.79610	-0.1732	10	0.87932	D	0	-14.1854	18.7184	0.91685	0.0:0.0:1.0:0.0	.	243	Q9HA92	RSAD1_HUMAN	V	243	ENSP00000258955:G243V	ENSP00000258955:G243V	G	+	2	0	RSAD1	45914704	1.000000	0.71417	0.098000	0.21074	0.022000	0.10575	6.556000	0.73932	2.505000	0.84491	0.655000	0.94253	GGT	RSAD1	-	smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	ENSG00000136444		0.662	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	HGNC	protein_coding	OTTHUMT00000367413.1	-	0	66	0	G	NM_018346		48559705	1	tier1	-	no_errors	ENST00000258955	ensembl	human	known	74_37	missense	7.27	50	4	SNP	0.998	T	T	48559705	G	T	48559705	3	4	58	1	0	0	0	0	1	0	0	0	13739	1261	44	3	742	3	RSAD1	17	48559705	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	125738	48559705	32635505	1878	16261											
SPATA20	64847	genome.wustl.edu	37	chr17	48625088	48625088	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgattccctaggtgtcctGgagtctggcccaggacctgg	5	11	13	12	0	2	1	0	1	2	0	4	3	4	3	4	5	0	0	4	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48625088G>A	ENST00000356488.4	+	1	160				SPATA20_ENST00000006658.6_Missense_Mutation_p.G29R|SPATA20_ENST00000393244.3_5'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			taggtgtcctggagtctggcc	0.577																																																	0													72	76	75					17																	48625088		2203	4300	6503	SO:0001627	intron_variant	0				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"hypothetical protein FLJ21347"	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.77+442G>A	17.37:g.48625088G>A			Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.G29R	ENST00000356488.4	37	c.85	CCDS58563.1	17	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418215	0.25552	.	.	ENSG00000006282	ENST00000006658	T	0.24350	1.86	3.48	-0.24	0.13047	.	0.302701	0.17472	U	0.173064	T	0.11836	0.0288	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.06405	0.002	T	0.14531	-1.0469	9	0.35671	T	0.21	-23.3829	1.0568	0.01592	0.1445:0.2194:0.3883:0.2477	.	29	Q8TB22-2	.	R	29	ENSP00000006658:G29R	ENSP00000006658:G29R	G	+	1	0	SPATA20	45980087	0.000000	0.05858	0.227000	0.23927	0.220000	0.24768	-0.717000	0.04986	0.515000	0.28320	0.555000	0.69702	GGA	SPATA20	-	NULL	ENSG00000006282		0.577	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	HGNC	protein_coding	OTTHUMT00000367651.1	-	0	33	0	G	NM_022827		48625088	1	tier1	-	no_errors	ENST00000006658	ensembl	human	known	74_37	missense	51.16	21	22	SNP	0.020	A	A	48625088	G	A	48625088	1	1	58	0	1	0	0	0	0	0	0	0	15053	1349	47	3		3	SPATA20	17	48625088	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	65383	48625088	32570122	1879	16262											
SPAG9	9043	genome.wustl.edu	37	chr17	49075879	49075879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcttcttttcttgacGgacggagtaacatgagacgt	8	13	12	8	3	2	2	0	2	2	1	2	5	2	4	0	2	3	3	0	2	1	5	rs374965775		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:49075879G>A	ENST00000262013.7	-	15	1972	c.1764C>T	c.(1762-1764)tcC>tcT	p.S588S	SPAG9_ENST00000357122.4_Silent_p.S574S|SPAG9_ENST00000505279.1_Silent_p.S578S|SPAG9_ENST00000510283.1_Silent_p.S431S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	588					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTCTTGACGGACGGAGTAA	0.433																																																	0													161	138	146					17																	49075879		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1764C>T	17.37:g.49075879G>A			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.S588	ENST00000262013.7	37	c.1764	CCDS45740.1	17																																																																																			SPAG9	-	NULL	ENSG00000008294		0.433	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	-	0	82	0	G	NM_003971		49075879	-1	tier1	-	no_errors	ENST00000262013	ensembl	human	known	74_37	silent	47.13	46	41	SNP	0.165	A	A	49075879	G	A	49075879	2	1	58	1	0	0	0	0	0	0	0	1	15032	1103	39	1		1	SPAG9	17	49075879	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	450791	49075879	32119331	1880	16263											
UTP18	51096	genome.wustl.edu	37	chr17	49338044	49338044	+	Frame_Shift_Del	DEL	G	G	-																															ccggactggaaagccggagcGgggccaggcgggcctcccca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:49338044delG	ENST00000225298.7	+	1	156	c.99delG	c.(97-99)gcgfs	p.A33fs	MBTD1_ENST00000586178.1_5'Flank|MBTD1_ENST00000376381.2_5'Flank	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	33					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AAGCCGGAGCGGGGCCAGGCG	0.721																																																	0													8	11	10					17																	49338044		1796	4049	5845	SO:0001589	frameshift_variant	0			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"WD repeat domain containing"	24274	protein-coding gene	gene with protein product		612816	"WD repeat domain 50"	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.99delG	17.37:g.49338044delG	ENSP00000225298:p.Ala33fs		Q9H4N6	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P35fs	ENST00000225298.7	37	c.99	CCDS42362.1	17																																																																																			UTP18	-	NULL	ENSG00000011260		0.721	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP18	HGNC	protein_coding	OTTHUMT00000368654.1		0	32	0	G	NM_016001		49338044	1	tier1		no_errors	ENST00000225298	ensembl	human	known	74_37	frame_shift_del	41.38	17	12	DEL	0.002	-	-	49338044	G	-	49338044	7	5	58	1	0	1	0	1	0	0	0	0	17147	1103	39	0	101	0	UTP18	17	49338044	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	262165	49338044	31857166	1881	16264											
RNF43	54894	genome.wustl.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-																															caggggtgggctcggagggaCccccccgccttttcctctgt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																																	1	Deletion - Frameshift(1)	large_intestine(1)											64	77	72					17																	56435161		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.G659fs	ENST00000584437.1	37	c.1976	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1		0	57	0	C	NM_017763		56435161	-1	tier1		no_errors	ENST00000407977	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	0.900	-	-	56435161	C	-	56435161	7	5	58	1	0	1	0	1	0	0	0	0	13540	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	7097117	56435161	24760049	1882	16265											
MTMR4	9110	genome.wustl.edu	37	chr17	56573108	56573108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacttggagggcacacctaGcatggagtctggctgggcct	8	8	14	11	0	1	0	0	0	1	0	1	2	1	2	2	5	1	3	2	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:56573108G>T	ENST00000323456.5	-	16	2519	c.2395C>A	c.(2395-2397)Cta>Ata	p.L799I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L742I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	799					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACACCTAGCATGGAGTCT	0.522																																																	0													121	117	118					17																	56573108		2203	4300	6503	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2395C>A	17.37:g.56573108G>T	ENSP00000325285:p.Leu799Ile		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.L799I	ENST00000323456.5	37	c.2395	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424914	0.01126	.	.	ENSG00000108389	ENST00000323456	D	0.92965	-3.14	4.81	1.46	0.22682	.	3.812990	0.00610	N	0.000405	D	0.85771	0.5774	N	0.19112	0.55	0.09310	N	1	B	0.24721	0.11	B	0.22880	0.042	T	0.73379	-0.4001	10	0.34782	T	0.22	.	6.1535	0.20324	0.091:0.0:0.5593:0.3496	.	799	Q9NYA4	MTMR4_HUMAN	I	799	ENSP00000325285:L799I	ENSP00000325285:L799I	L	-	1	2	MTMR4	53928107	0.160000	0.22878	0.001000	0.08648	0.004000	0.04260	2.199000	0.42715	0.230000	0.21059	-0.274000	0.10170	CTA	MTMR4	-	NULL	ENSG00000108389		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1		0	49	0	G	NM_004687		56573108	-1			no_errors	ENST00000323456	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.006	T	T	56573108	G	T	56573108	3	4	58	1	0	0	0	0	1	0	0	0	9984	962	34	3	1208	3	MTMR4	17	56573108	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	137947	56573108	24622102	1883	16266											
TEX14	56155	genome.wustl.edu	37	chr17	56700371	56700371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtgctcccatcaaagcagCggctggggagggagatgagt	9	6	18	8	1	1	2	1	1	0	1	2	4	2	3	1	5	3	3	1	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:56700371C>T	ENST00000240361.8	-	4	339	c.254G>A	c.(253-255)cGc>cAc	p.R85H	TEX14_ENST00000389934.3_Missense_Mutation_p.R85H|TEX14_ENST00000349033.5_Missense_Mutation_p.R85H			Q8IWB6	TEX14_HUMAN	testis expressed 14	85					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.R85P(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCAAAGCAGCGGCTGGGGAG	0.567																																																	2	Substitution - Missense(2)	breast(2)											62	46	52					17																	56700371		2203	4300	6503	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.254G>A	17.37:g.56700371C>T	ENSP00000240361:p.Arg85His		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.R85H	ENST00000240361.8	37	c.254	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881398	0.91740	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.67171	-0.25;-0.25;-0.25	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.82834	0.5123	M	0.80028	2.48	0.46499	D	0.999076	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.987;0.993	D	0.85203	0.1016	10	0.87932	D	0	-22.2167	17.6767	0.88232	0.0:1.0:0.0:0.0	.	85;85;85	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	85	ENSP00000240361:R85H;ENSP00000374584:R85H;ENSP00000268910:R85H	ENSP00000240361:R85H	R	-	2	0	TEX14	54055370	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.718000	0.68455	2.583000	0.87209	0.655000	0.94253	CGC	TEX14	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000121101		0.567	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1		0	22	0	C			56700371	-1			no_errors	ENST00000240361	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T	T	56700371	C	T	56700371	3	4	58	1	0	0	0	0	1	0	0	0	15825	768	27	1	4341	1	TEX14	17	56700371	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	127263	56700371	24494839	1884	16267											
TBX2	6909	genome.wustl.edu	37	chr17	59479054	59479054	+	Frame_Shift_Del	DEL	C	C	-																															ctccctcccaggcggatgttCccccccttcaaggtgcgagt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:59479054delC	ENST00000240328.3	+	2	686	c.405delC	c.(403-405)ttcfs	p.F135fs	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	135					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GGCGGATGTTCCCCCCCTTCA	0.562																																					GBM(3;187 253 11467 14965 23079)												0													42	40	41					17																	59479054		2203	4300	6503	SO:0001589	frameshift_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.405delC	17.37:g.59479054delC	ENSP00000240328:p.Phe135fs		Q16424|Q7Z647	Frame_Shift_Del	DEL	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.F138fs	ENST00000240328.3	37	c.405	CCDS11627.2	17																																																																																			TBX2	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000121068		0.562	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0	56	0	C	NM_005994		59479054	1	tier1		no_errors	ENST00000240328	ensembl	human	novel	74_37	frame_shift_del	37.93	18	11	DEL	1.000	-	-	59479054	C	-	59479054	7	5	58	1	0	1	0	1	0	0	0	0	15702	854	30	0	411	0	TBX2	17	59479054	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	2778683	59479054	21716156	1885	16268											
TBX2	6909	genome.wustl.edu	37	chr17	59485488	59485488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagcagcagccgcagccgCctcggctttgcccgccacta	6	5	12	18	4	0	0	0	0	0	0	1	0	0	0	5	2	5	5	5	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:59485488C>T	ENST00000240328.3	+	7	2041	c.1760C>T	c.(1759-1761)gCc>gTc	p.A587V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	587	Ala-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						gccgcagccgcctcggctttg	0.672																																					GBM(3;187 253 11467 14965 23079)												0													13	16	15					17																	59485488		2038	4045	6083	SO:0001583	missense	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"T-boxes"	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1760C>T	17.37:g.59485488C>T	ENSP00000240328:p.Ala587Val		Q16424|Q7Z647	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.A587V	ENST00000240328.3	37	c.1760	CCDS11627.2	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014399	0.75161	.	.	ENSG00000121068	ENST00000240328	D	0.86865	-2.18	5.01	5.01	0.66863	.	0.050137	0.85682	D	0.000000	D	0.87916	0.6298	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.84368	0.0542	10	0.16896	T	0.51	.	17.061	0.86547	0.0:1.0:0.0:0.0	.	587	Q13207	TBX2_HUMAN	V	587	ENSP00000240328:A587V	ENSP00000240328:A587V	A	+	2	0	TBX2	56840270	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.452000	0.66638	2.608000	0.88229	0.655000	0.94253	GCC	TBX2	-	NULL	ENSG00000121068		0.672	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2	-	0	41	0	C	NM_005994		59485488	1	tier1	-	no_errors	ENST00000240328	ensembl	human	novel	74_37	missense	44.44	10	8	SNP	1.000	T	T	59485488	C	T	59485488	3	4	58	1	0	0	0	0	1	0	0	0	15702	739	26	3	1786	3	TBX2	17	59485488	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6434	59485488	21709722	1886	16269											
TLK2	11011	genome.wustl.edu	37	chr17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagagaaatacaaggaacGattaaatagatgtgtgacaa	19	8	10	4	1	0	3	0	1	0	2	0	6	0	4	0	1	2	1	0	1	9	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:60637441G>A	ENST00000326270.9	+	10	1053	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q|TLK2_ENST00000582809.1_Missense_Mutation_p.R113Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262			R -> Q. {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R262Q(17)|p.R261Q(9)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGGAACGATTAAATAGA	0.358																																																	26	Substitution - Missense(26)	endometrium(15)|kidney(9)|central_nervous_system(2)											72	74	73					17																	60637441		2203	4298	6501	SO:0001583	missense	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.785G>A	17.37:g.60637441G>A	ENSP00000316512:p.Arg262Gln		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R262Q	ENST00000326270.9	37	c.785		17	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356600	0.61293	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66460	-0.16;-0.21;-0.13;-0.21	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	N	0.26092	0.79	0.80722	D	1	D;B;B;B	0.89917	1.0;0.369;0.031;0.135	D;B;B;B	0.85130	0.997;0.074;0.016;0.012	T	0.64896	-0.6299	10	0.17369	T	0.5	.	16.8221	0.85835	0.0:0.0:1.0:0.0	.	262;230;262;262	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	262;230;262;230	ENSP00000275780:R262Q;ENSP00000340800:R230Q;ENSP00000316512:R262Q;ENSP00000442311:R230Q	ENSP00000316512:R262Q	R	+	2	0	TLK2	57991173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.504000	0.97986	2.516000	0.84829	0.655000	0.94253	CGA	TLK2	-	NULL	ENSG00000146872		0.358	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1		0	55	0	G	NM_006852		60637441	1			no_errors	ENST00000326270	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	A	A	60637441	G	A	60637441	3	1	58	1	0	0	0	0	1	0	0	0	15991	1058	37	1	819	1	TLK2	17	60637441	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1151953	60637441	20557769	1887	16270											
STRADA	92335	genome.wustl.edu	37	chr17	61781804	61781804	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcaccgttggagggccGgggggtgctggtggtcaggc	4	7	21	9	3	2	0	2	0	0	0	2	2	2	1	2	8	1	2	2	8	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:61781804G>C	ENST00000336174.6	-	11	1109	c.997C>G	c.(997-999)Cgg>Ggg	p.R333G	STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Missense_Mutation_p.R289G|STRADA_ENST00000582137.1_Missense_Mutation_p.R304G|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_Missense_Mutation_p.R296G|STRADA_ENST00000375840.4_Missense_Mutation_p.R275G|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000580039.1_5'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTGGAGGGCCGGGGGGTGCTG	0.647																																																	0													30	31	31					17																	61781804		2202	4300	6502	SO:0001583	missense	0			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.997C>G	17.37:g.61781804G>C	ENSP00000336655:p.Arg333Gly		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R333G	ENST00000336174.6	37	c.997	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901217	0.17760	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.57752	0.45;0.47;0.38;0.38	4.91	1.94	0.25998	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051495	0.85682	D	0.000000	T	0.48642	0.1511	L	0.51853	1.615	0.80722	D	1	B;B;B;B;B;B	0.15473	0.008;0.003;0.013;0.005;0.011;0.008	B;B;B;B;B;B	0.20384	0.012;0.005;0.019;0.011;0.011;0.029	T	0.53330	-0.8454	10	0.87932	D	0	.	15.613	0.76740	0.0:0.0:0.6172:0.3828	.	304;289;275;296;296;333	B4DW17;B4DDE3;Q5JPI2;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;STRAA_HUMAN	G	333;275;289;296;295	ENSP00000336655:R333G;ENSP00000365000:R275G;ENSP00000398841:R289G;ENSP00000376677:R296G	ENSP00000245865:R295G	R	-	1	2	STRADA	59135536	0.977000	0.34250	0.998000	0.56505	0.775000	0.43874	0.702000	0.25631	0.489000	0.27749	0.491000	0.48974	CGG	STRADA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000266173		0.647	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1		0	56	0	G			61781804	-1			no_errors	ENST00000336174	ensembl	human	known	74_37	missense	6.67	32	3	SNP	0.626	C	C	61781804	G	C	61781804	3	2	58	1	0	0	0	0	1	0	0	0	15371	1115	39	5	368	5	STRADA	17	61781804	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1144363	61781804	19413406	1888	16271											
CSH2	1443	genome.wustl.edu	37	chr17	61949908	61949908	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaagccagtggggttccaGgattggcgacccctggcgcc	6	8	14	13	2	1	0	0	0	1	0	2	2	2	1	5	5	1	1	5	5	1	3	rs375413737		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:61949908G>T	ENST00000392886.2	-	4	608				CSH2_ENST00000345366.7_Intron|CSH2_ENST00000560142.1_Intron|CSH2_ENST00000336844.5_Missense_Mutation_p.P162H	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						TGGGGTTCCAGGATTGGCGAC	0.557																																																	0													86	80	82					17																	61949908		2203	4300	6503	SO:0001627	intron_variant	0			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.456+28C>A	17.37:g.61949908G>T			P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.P162H	ENST00000392886.2	37	c.485	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	g	13.72	2.321878	0.41096	.	.	ENSG00000213218	ENST00000336844	D	0.87966	-2.32	3.16	-0.681	0.11342	.	.	.	.	.	D	0.83298	0.5224	L	0.51422	1.61	0.09310	N	0.999996	P	0.35124	0.485	B	0.43990	0.438	T	0.72010	-0.4419	8	.	.	.	.	3.2124	0.06687	0.3282:0.2221:0.4497:0.0	.	162	A6NIT4	.	H	162	ENSP00000338816:P162H	.	P	-	2	0	CSH2	59303640	0.061000	0.20836	0.001000	0.08648	0.009000	0.06853	1.107000	0.31110	-0.003000	0.14444	0.407000	0.27541	CCT	CSH2	-	superfamily_4_helix_cytokine-like_core	ENSG00000213218		0.557	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	HGNC	protein_coding	OTTHUMT00000417657.1	-	0	96	0	G	NM_020991		61949908	-1	tier1	-	no_errors	ENST00000336844	ensembl	human	known	74_37	missense	5.43	87	5	SNP	0.001	T	T	61949908	G	T	61949908	1	4	58	0	1	0	0	0	0	0	0	0	3950	1000	35	3		3	CSH2	17	61949908	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	168104	61949908	19245302	1889	16272											
SCN4A	6329	genome.wustl.edu	37	chr17	62020367	62020367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgtctccaccatcatGgtgaccatgttgaggcagat	8	13	10	10	0	3	3	1	2	2	1	4	3	3	3	3	2	0	2	3	2	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62020367G>T	ENST00000435607.1	-	23	4183	c.4107C>A	c.(4105-4107)acC>acA	p.T1369T	SCN4A_ENST00000578147.1_Silent_p.T1369T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1369					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACCATCATGGTGACCATGT	0.512																																																	0													229	210	217					17																	62020367		2203	4300	6503	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4107C>A	17.37:g.62020367G>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.T1369	ENST00000435607.1	37	c.4107	CCDS45761.1	17																																																																																			SCN4A	-	NULL	ENSG00000007314		0.512	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0	79	0	G	NM_000334		62020367	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	5.38	88	5	SNP	1.000	T	T	62020367	G	T	62020367	2	4	58	1	0	0	0	0	0	0	0	1	13965	1335	47	3		3	SCN4A	17	62020367	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	70459	62020367	19174843	1890	16273											
DDX5	1655	genome.wustl.edu	37	chr17	62496720	62496720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggattaattgcttgattaGcttcacgaagcacagagata	13	12	10	6	1	1	2	1	1	0	1	1	5	1	3	0	1	3	3	0	1	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62496720G>T	ENST00000225792.5	-	12	1789	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.A463D|DDX5_ENST00000450599.2_Missense_Mutation_p.A384D|MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	463	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGCTTGATTAGCTTCACGAAG	0.428			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													134	117	123					17																	62496720		2203	4300	6503	SO:0001583	missense	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"DEAD-boxes"	2746	protein-coding gene	gene with protein product		180630	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1388C>A	17.37:g.62496720G>T	ENSP00000225792:p.Ala463Asp		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A463D	ENST00000225792.5	37	c.1388	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687106	0.29962	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.73	5.73	0.89815	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.85443	0.1156	9	0.87932	D	0	-12.2058	20.2602	0.98440	0.0:0.0:1.0:0.0	.	384;463;463	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	D	463;393;452	.	ENSP00000225792:A452D	A	-	2	0	DDX5	59927182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.096000	0.94182	2.861000	0.98227	0.655000	0.94253	GCT	DDX5	-	pfscan_Helicase_C	ENSG00000108654		0.428	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	-	0	67	0	G	NM_004396		62496720	-1	tier1	-	no_errors	ENST00000225792	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	62496720	G	T	62496720	3	4	58	1	0	0	0	0	1	0	0	0	4376	971	34	3	464	3	DDX5	17	62496720	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	476353	62496720	18698490	1891	16274											
SMURF2	64750	genome.wustl.edu	37	chr17	62602752	62602752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaccaggttttttgcaCagagtactgtaaaaaaaaaa	16	13	6	6	0	1	1	1	0	0	1	1	1	1	1	1	1	2	4	1	1	6	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62602752C>T	ENST00000262435.9	-	2	246	c.59G>A	c.(58-60)tGt>tAt	p.C20Y	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	20	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GTTTTTTGCACAGAGTACTGT	0.289																																																	0													14	15	15					17																	62602752		2182	4275	6457	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.59G>A	17.37:g.62602752C>T	ENSP00000262435:p.Cys20Tyr		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.C20Y	ENST00000262435.9	37	c.59	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549260	0.45383	.	.	ENSG00000108854	ENST00000262435	T	0.66995	-0.24	5.8	5.8	0.92144	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.83889	0.5352	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85068	0.0938	9	0.87932	D	0	.	20.0464	0.97608	0.0:1.0:0.0:0.0	.	20	Q9HAU4	SMUF2_HUMAN	Y	20	ENSP00000262435:C20Y	ENSP00000262435:C20Y	C	-	2	0	SMURF2	60033214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.537000	0.82033	2.729000	0.93468	0.561000	0.74099	TGT	SMURF2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000108854		0.289	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	-	0	46	0	C	NM_022739		62602752	-1	tier1	-	no_errors	ENST00000262435	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	T	T	62602752	C	T	62602752	3	4	58	1	0	0	0	0	1	0	0	0	14865	478	17	3	2259	3	SMURF2	17	62602752	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	106032	62602752	18592458	1892	16275											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62855814	62855814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacattgttgttggggataaCggactgcagctgctgggtta	8	12	14	7	1	0	0	0	0	0	0	0	2	0	2	0	4	4	6	0	4	2	5	rs369687044		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62855814C>T	ENST00000584306.1	-	11	4980	c.4450G>A	c.(4450-4452)Gtt>Att	p.V1484I	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.V602I|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.V461I|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.V522I|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.V1484I	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1484						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTGGGGATAACGGACTGCAGC	0.532																																																	0								G	ILE/VAL	0,4406		0,0,2203	266	267	267		4450	1.5	0	17		267	1,8599		0,1,4299	no	missense	LRRC37A3	NM_199340.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1484/1635	62855814	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4450G>A	17.37:g.62855814C>T	ENSP00000464535:p.Val1484Ile		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V1484I	ENST00000584306.1	37	c.4450	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	2.432	-0.330667	0.05314	0.0	1.16E-4	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.43688	0.94;0.94;0.94	2.57	1.53	0.23141	.	.	.	.	.	T	0.23370	0.0565	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.08055	0.001;0.003	T	0.19844	-1.0293	9	0.72032	D	0.01	.	4.972	0.14121	0.0:0.2375:0.5187:0.2438	.	602;1484	B4DG20;O60309	.;L37A3_HUMAN	I	565;522;461;1484	ENSP00000383674:V522I;ENSP00000335617:V461I;ENSP00000325713:V1484I	ENSP00000325713:V1484I	V	-	1	0	LRRC37A3	60286276	0.586000	0.26782	0.019000	0.16419	0.001000	0.01503	0.446000	0.21694	0.005000	0.14708	-1.122000	0.02009	GTT	LRRC37A3	-	NULL	ENSG00000176809		0.532	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	-	0	157	0	C	NM_199340		62855814	-1	tier1	-	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	33.33	118	59	SNP	0.100	T	T	62855814	C	T	62855814	3	4	58	1	0	0	0	0	1	0	0	0	9028	536	19	1	470	1	LRRC37A3	17	62855814	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	253062	62855814	18339396	1893	16276											
CACNG5	27091	genome.wustl.edu	37	chr17	64873530	64873530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcctcctgggtatcgCggtcagcaccgactactggc	5	9	13	14	3	1	0	1	0	0	0	3	1	2	0	3	4	2	2	3	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:64873530C>T	ENST00000533854.1	+	2	317	c.80C>T	c.(79-81)gCg>gTg	p.A27V	CACNG5_ENST00000169565.3_Missense_Mutation_p.A27V|CACNG5_ENST00000307139.3_Missense_Mutation_p.A27V			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	27					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTGGGTATCGCGGTCAGCACC	0.617																																																	0													166	122	137					17																	64873530		2203	4300	6503	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.80C>T	17.37:g.64873530C>T	ENSP00000436836:p.Ala27Val		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.A27V	ENST00000533854.1	37	c.80	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393463	0.83011	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.91407	-2.84;-2.84;-2.84	4.82	4.82	0.62117	.	0.068867	0.56097	D	0.000025	D	0.92753	0.7696	M	0.88105	2.93	0.53005	D	0.999969	P	0.41524	0.753	B	0.41666	0.363	D	0.94255	0.7497	10	0.72032	D	0.01	-31.8475	17.4946	0.87714	0.0:1.0:0.0:0.0	.	27	Q9UF02	CCG5_HUMAN	V	27	ENSP00000436836:A27V;ENSP00000303092:A27V;ENSP00000169565:A27V	ENSP00000169565:A27V	A	+	2	0	CACNG5	62303992	1.000000	0.71417	0.889000	0.34880	0.310000	0.27922	7.158000	0.77470	2.672000	0.90937	0.650000	0.86243	GCG	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	ENSG00000075429		0.617	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0	72	0	C	NM_014404, NM_145811		64873530	1	tier1	-	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	40.32	37	25	SNP	0.997	T	T	64873530	C	T	64873530	3	4	58	1	0	0	0	0	1	0	0	0	2567	768	27	1	82	1	CACNG5	17	64873530	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2017716	64873530	16321680	1894	16277											
CACNG5	27091	genome.wustl.edu	37	chr17	64873628	64873628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcactcaggcctctggCgggtctgcttccttgcaggt	3	11	12	15	1	3	0	1	0	2	0	4	0	4	0	3	4	3	3	3	4	0	2	rs141219015	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:64873628C>T	ENST00000533854.1	+	2	415	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	CACNG5_ENST00000169565.3_Missense_Mutation_p.R60W|CACNG5_ENST00000307139.3_Missense_Mutation_p.R60W			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	60					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGGCCTCTGGCGGGTCTGCTT	0.632													C|||	2	0.000399361	8e-04	0	5008	,	,		20463	0		0.001	False		,,,				2504	0																0								C	TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	94	73	80		178	-0.3	1	17	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNG5	NM_145811.2	101	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	probably-damaging	60/276	64873628	7,12999	2203	4300	6503	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.178C>T	17.37:g.64873628C>T	ENSP00000436836:p.Arg60Trp		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.R60W	ENST00000533854.1	37	c.178	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390675	0.62066	0.001362	1.16E-4	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.90676	-2.71;-2.71;-2.71	4.54	-0.278	0.12894	.	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	M	0.87038	2.855	0.50313	D	0.999862	D	0.89917	1.0	D	0.87578	0.998	D	0.94590	0.7787	10	0.66056	D	0.02	-33.6565	13.6578	0.62348	0.7218:0.2782:0.0:0.0	.	60	Q9UF02	CCG5_HUMAN	W	60	ENSP00000436836:R60W;ENSP00000303092:R60W;ENSP00000169565:R60W	ENSP00000169565:R60W	R	+	1	2	CACNG5	62304090	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	1.288000	0.33296	0.228000	0.21019	-0.320000	0.08662	CGG	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000075429		0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0	43	0	C	NM_014404, NM_145811		64873628	1	tier1	rs141219015	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	39.02	25	16	SNP	1.000	T	T	64873628	C	T	64873628	3	4	58	1	0	0	0	0	1	0	0	0	2567	759	27	1	180	1	CACNG5	17	64873628	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	98	64873628	16321582	1895	16278											
CACNG5	27091	genome.wustl.edu	37	chr17	64881306	64881306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaacagcaactacccCgccttgctcaagtgccccga	11	6	8	16	2	1	2	1	1	0	1	1	3	1	2	5	0	6	2	5	0	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:64881306C>T	ENST00000533854.1	+	6	1014	c.777C>T	c.(775-777)ccC>ccT	p.P259P	CACNG5_ENST00000307139.3_Silent_p.P259P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	259				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAACTACCCCGCCTTGCTCA	0.632																																																	0													68	57	61					17																	64881306		2203	4300	6503	SO:0001819	synonymous_variant	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"Calcium channel subunits"	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.777C>T	17.37:g.64881306C>T			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.P259	ENST00000533854.1	37	c.777	CCDS11665.1	17																																																																																			CACNG5	-	NULL	ENSG00000075429		0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0	52	0	C	NM_014404, NM_145811		64881306	1	tier1	-	no_errors	ENST00000307139	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.066	T	T	64881306	C	T	64881306	2	4	58	1	0	0	0	0	0	0	0	1	2567	639	23	1		1	CACNG5	17	64881306	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	7678	64881306	16313904	1896	16279											
ABCA8	10351	genome.wustl.edu	37	chr17	66872639	66872639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggtccatcccggtcgaCggctcatccagaagcaccac	8	6	11	16	4	1	1	1	0	0	1	6	2	4	1	4	4	1	2	4	4	1	0	rs143428358		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:66872639C>T	ENST00000269080.2	-	33	4349	c.4212G>A	c.(4210-4212)ccG>ccA	p.P1404P	ABCA8_ENST00000430352.2_Silent_p.P1444P|ABCA8_ENST00000586539.1_Silent_p.P1444P	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1404	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCCGGTCGACGGCTCATCCA	0.577																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	136	125	128		4212	-3.1	0	17	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	ABCA8	NM_007168.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1404/1582	66872639	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4212G>A	17.37:g.66872639C>T			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1444	ENST00000269080.2	37	c.4332	CCDS11680.1	17																																																																																			ABCA8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.577	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0	63	0	C	NM_007168		66872639	-1	tier1	rs143428358	no_errors	ENST00000430352	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.055	T	T	66872639	C	T	66872639	2	4	58	1	0	0	0	0	0	0	0	1	38	523	19	1		1	ABCA8	17	66872639	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1991333	66872639	14322571	1897	16280											
ABCA6	23460	genome.wustl.edu	37	chr17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-																															ttaccaaagataagccatatAaaaaaaagagtataaatatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:67125767delA	ENST00000284425.2	-	7	1091	c.917delT	c.(916-918)ttafs	p.L306fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	306					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAAGCCATATAAAAAAAAGAG	0.308																																																	0													75	81	79					17																	67125767		2202	4295	6497	SO:0001589	frameshift_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"ATP binding cassette transporters / subfamily A"	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.917delT	17.37:g.67125767delA	ENSP00000284425:p.Leu306fs		Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L306fs	ENST00000284425.2	37	c.917	CCDS11683.1	17																																																																																			ABCA6	-	NULL	ENSG00000154262		0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1		0	30	0	A	NM_080284		67125767	-1	tier1		no_errors	ENST00000284425	ensembl	human	known	74_37	frame_shift_del	43.33	17	13	DEL	1.000	-	-	67125767	A	-	67125767	7	5	58	1	0	1	0	1	0	0	0	0	36	372	13	0	4068	0	ABCA6	17	67125767	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	253128	67125767	14069443	1898	16281											
ABCA5	23461	genome.wustl.edu	37	chr17	67260954	67260954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctagcatcaaaataagaatGataaaaaataaggggatatc	21	8	7	5	0	1	2	1	1	0	1	2	3	1	3	1	2	1	1	1	2	10	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:67260954G>A	ENST00000392676.3	-	24	3301	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	ABCA5_ENST00000392677.2_Silent_p.I1080I|ABCA5_ENST00000588877.1_Silent_p.I1079I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1079					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAATAAGAATGATAAAAAATA	0.313																																																	0													59	61	61					17																	67260954		2203	4296	6499	SO:0001819	synonymous_variant	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3237C>T	17.37:g.67260954G>A			Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1080	ENST00000392676.3	37	c.3240	CCDS11685.1	17																																																																																			ABCA5	-	NULL	ENSG00000154265		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	-	0	27	0	G	NM_018672		67260954	-1	tier1	-	no_errors	ENST00000392677	ensembl	human	known	74_37	silent	34.88	28	15	SNP	0.054	A	A	67260954	G	A	67260954	2	1	58	1	0	0	0	0	0	0	0	1	35	1280	45	3		3	ABCA5	17	67260954	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	135187	67260954	13934256	1899	16282											
BTBD17	388419	genome.wustl.edu	37	chr17	72353398	72353398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcggccaccgcggggcCgtggcgcgccagggctgccg	3	3	20	15	7	0	0	0	0	0	0	1	1	0	0	5	6	1	1	5	6	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72353398C>T	ENST00000375366.3	-	3	961	c.835G>A	c.(835-837)Ggc>Agc	p.G279S		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	279					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						ACCGCGGGGCCGTGGCGCGCC	0.716																																																	0													5	6	6					17																	72353398		2007	3896	5903	SO:0001583	missense	0				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"BTB/POZ domain containing"	33758	protein-coding gene	gene with protein product	"transport and golgi organization 10 homolog A (Drosophila)"						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.835G>A	17.37:g.72353398C>T	ENSP00000364515:p.Gly279Ser			Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.G279S	ENST00000375366.3	37	c.835	CCDS32719.1	17	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527567	0.44969	.	.	ENSG00000204347	ENST00000375366	T	0.75704	-0.96	5.03	4.0	0.46444	.	0.306297	0.33309	N	0.005041	T	0.44787	0.1310	N	0.14661	0.345	0.27267	N	0.958478	P	0.39094	0.659	B	0.24848	0.056	T	0.43294	-0.9400	10	0.07813	T	0.8	-28.9989	8.1369	0.31061	0.2223:0.4267:0.351:0.0	.	279	A6NE02	BTBDH_HUMAN	S	279	ENSP00000364515:G279S	ENSP00000364515:G279S	G	-	1	0	BTBD17	69864993	0.082000	0.21442	1.000000	0.80357	0.943000	0.58893	-0.058000	0.11750	2.359000	0.80004	0.456000	0.33151	GGC	BTBD17	-	NULL	ENSG00000204347		0.716	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	HGNC	protein_coding	OTTHUMT00000442542.1		0	12	0	C	NM_001080466		72353398	-1			no_errors	ENST00000375366	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.991	T	T	72353398	C	T	72353398	3	4	58	1	0	0	0	0	1	0	0	0	1546	652	23	1	605	1	BTBD17	17	72353398	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5092444	72353398	8841812	1900	16283											
CD300C	10871	genome.wustl.edu	37	chr17	72539041	72539041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtcctttctggtcacGctgggccaggtgtgcacggg	3	10	17	11	2	2	0	1	0	1	0	3	0	3	0	2	5	1	3	2	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72539041G>A	ENST00000330793.1	-	3	846	c.486C>T	c.(484-486)agC>agT	p.S162S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	162	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTGGTCACGCTGGGCCAGG	0.672																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													87	77	80					17																	72539041		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	19320	protein-coding gene	gene with protein product		606786	"CD300c antigen"			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.486C>T	17.37:g.72539041G>A				Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S162	ENST00000330793.1	37	c.486	CCDS11701.1	17																																																																																			CD300C	-	NULL	ENSG00000167850		0.672	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	-	0	64	0	G	NM_006678		72539041	-1	tier1	-	no_errors	ENST00000330793	ensembl	human	known	74_37	silent	28.85	37	15	SNP	0.000	A	A	72539041	G	A	72539041	2	1	58	1	0	0	0	0	0	0	0	1	3004	1078	38	1		1	CD300C	17	72539041	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	185643	72539041	8656169	1901	16284											
C17orf77	146723	genome.wustl.edu	37	chr17	72588242	72588242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcctgagaacagagcGtctctgtctccaagccagcc	8	9	8	16	1	2	2	0	1	2	2	6	3	4	2	5	0	4	0	5	0	2	1	rs143787635	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72588242G>A	ENST00000392620.1	+	3	419	c.57G>A	c.(55-57)gcG>gcA	p.A19A	C17orf77_ENST00000328023.2_Silent_p.A19A|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	19						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGAACAGAGCGTCTCTGTCTC	0.493													G|||	12	0.00239617	0	0.0014	5008	,	,		18229	0		0	False		,,,				2504	0.0112																0								G	,	1,4405	2.1+/-5.4	0,1,2202	93	92	92		,57	-0.3	0	17	dbSNP_134	92	7,8593	6.4+/-24.3	0,7,4293	no	intron,coding-synonymous	C17orf77,CD300LD	NM_001115152.1,NM_152460.2	,	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	,	,19/244	72588242	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.57G>A	17.37:g.72588242G>A				Silent	SNP	NULL	p.A19	ENST00000392620.1	37	c.57	CCDS32721.1	17																																																																																			C17orf77	-	NULL	ENSG00000182352		0.493	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf77	HGNC	protein_coding	OTTHUMT00000145090.2	-	0	38	0	G	NM_152460		72588242	1	tier1	rs143787635	no_errors	ENST00000328023	ensembl	human	known	74_37	silent	36.21	37	21	SNP	0.000	A	A	72588242	G	A	72588242	2	1	58	1	0	0	0	0	0	0	0	1	1888	1132	40	1		1	C17orf77	17	72588242	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	49201	72588242	8606968	1902	16285											
CDR2L	30850	genome.wustl.edu	37	chr17	72999572	72999572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacctacctactgggtccGgacgaccacctggccgaggc	9	5	12	15	3	0	1	0	0	0	1	1	4	1	2	6	4	2	0	6	4	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72999572G>A	ENST00000337231.5	+	5	1213	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	267												all_lung(278;0.226)					TACTGGGTCCGGACGACCACC	0.706																																																	0													26	19	22					17																	72999572		2181	4265	6446	SO:0001819	synonymous_variant	0				CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"paraneoplastic antigen"						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.801G>A	17.37:g.72999572G>A			B4DFA7|Q15175	Silent	SNP	NULL	p.P267	ENST00000337231.5	37	c.801	CCDS11710.2	17																																																																																			CDR2L	-	NULL	ENSG00000109089		0.706	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2L	HGNC	protein_coding	OTTHUMT00000318080.1	-	0	60	0	G	NM_014603		72999572	1	tier1	-	no_errors	ENST00000337231	ensembl	human	known	74_37	silent	42.59	31	23	SNP	0.892	A	A	72999572	G	A	72999572	2	1	58	1	0	0	0	0	0	0	0	1	3180	1103	39	1		1	CDR2L	17	72999572	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	411330	72999572	8195638	1903	16286											
KIAA0195	9772	genome.wustl.edu	37	chr17	73490811	73490811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccaggcccggctggacatCgtgcgcctcattgatgggct	6	9	13	13	3	1	1	1	1	0	0	2	2	1	2	3	4	2	2	3	4	1	2	rs372545349		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73490811C>T	ENST00000314256.7	+	19	2905	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	KIAA0195_ENST00000375248.5_Silent_p.I847I|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Silent_p.I488I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	837						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTGGACATCGTGCGCCTCA	0.587																																																	0								C		0,4406		0,0,2203	98	76	84		2511	-2.8	1	17		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA0195	NM_014738.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		837/1357	73490811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2511C>T	17.37:g.73490811C>T			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.I837	ENST00000314256.7	37	c.2511	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.587	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	-	0	130	0	C	NM_014738		73490811	1	tier1	-	no_errors	ENST00000314256	ensembl	human	known	74_37	silent	41.74	67	48	SNP	0.929	T	T	73490811	C	T	73490811	2	4	58	1	0	0	0	0	0	0	0	1	8187	874	31	1		1	KIAA0195	17	73490811	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	491239	73490811	7704399	1904	16287											
TSEN54	283989	genome.wustl.edu	37	chr17	73518162	73518162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgggcgggagacagacGctgagtcctggtgccagaag	8	6	18	9	2	0	4	0	1	0	3	1	5	1	4	2	4	1	2	2	4	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73518162G>A	ENST00000333213.6	+	8	1036	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	334					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGACAGACGCTGAGTCCTG	0.657																																																	0													19	16	17					17																	73518162		2188	4284	6472	SO:0001583	missense	0			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"tRNA splicing endonuclease subunits"	27561	protein-coding gene	gene with protein product		608755	"tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)", "tRNA splicing endonuclease 54 homolog (S. cerevisiae)"			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1000G>A	17.37:g.73518162G>A	ENSP00000327487:p.Ala334Thr		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.A334T	ENST00000333213.6	37	c.1000	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	7.869	0.727639	0.15439	.	.	ENSG00000182173	ENST00000333213	T	0.58506	0.33	5.33	3.34	0.38264	.	0.256239	0.39834	N	0.001256	T	0.39835	0.1093	L	0.33485	1.01	0.09310	N	1	B	0.26547	0.152	B	0.17098	0.017	T	0.17961	-1.0352	10	0.28530	T	0.3	-2.4802	6.7627	0.23550	0.1449:0.0:0.7113:0.1438	.	334	Q7Z6J9	SEN54_HUMAN	T	334	ENSP00000327487:A334T	ENSP00000327487:A334T	A	+	1	0	TSEN54	71029757	0.441000	0.25626	0.056000	0.19401	0.330000	0.28571	1.633000	0.37113	0.625000	0.30304	0.561000	0.74099	GCT	TSEN54	-	NULL	ENSG00000182173		0.657	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	-	0	22	0	G	NM_207346		73518162	1	tier1	-	no_errors	ENST00000333213	ensembl	human	known	74_37	missense	42.42	19	14	SNP	0.049	A	A	73518162	G	A	73518162	3	1	58	1	0	0	0	0	1	0	0	0	16662	1087	38	1	1030	1	TSEN54	17	73518162	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	27351	73518162	7677048	1905	16288											
LLGL2	3993	genome.wustl.edu	37	chr17	73560612	73560612	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcttcgggagtgggtGcccagggttaggtgtgggag	6	8	22	5	1	0	1	0	0	0	1	1	4	0	3	1	6	2	2	1	6	1	2	rs373341692		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73560612G>A	ENST00000392550.3	+	10	1153				LLGL2_ENST00000167462.5_Intron|LLGL2_ENST00000578363.1_Missense_Mutation_p.A354T|LLGL2_ENST00000375227.4_Missense_Mutation_p.A354T|LLGL2_ENST00000577200.1_Intron	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)						cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGAGTGGGTGCCCAGGGTTA	0.627																																																	0								G	THR/ALA,,	0,4406		0,0,2203	31	33	32		1060,,	-0.3	0	17		32	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,intron	LLGL2	NM_001015002.1,NM_001031803.1,NM_004524.2	58,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	354/357,,	73560612	2,13004	2203	4300	6503	SO:0001627	intron_variant	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1036+24G>A	17.37:g.73560612G>A			Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant	p.A354T	ENST00000392550.3	37	c.1060	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	8.264	0.811894	0.16537	0.0	2.33E-4	ENSG00000073350	ENST00000375227	T	0.32515	1.45	4.42	-0.294	0.12831	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30504	-0.9976	5	.	.	.	.	6.9089	0.24325	0.2663:0.134:0.5997:0.0	.	.	.	.	T	354	ENSP00000364375:A354T	.	A	+	1	0	LLGL2	71072207	0.017000	0.18338	0.000000	0.03702	0.003000	0.03518	0.113000	0.15499	0.092000	0.17331	-1.203000	0.01651	GCC	LLGL2	-	NULL	ENSG00000073350		0.627	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	-	0	152	0	G	NM_004524		73560612	1	tier1	-	no_errors	ENST00000375227	ensembl	human	known	74_37	missense	39.56	55	36	SNP	0.000	A	A	73560612	G	A	73560612	1	1	58	0	1	0	0	0	0	0	0	0	8864	1319	46	3		3	LLGL2	17	73560612	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	42450	73560612	7634598	1906	16289											
LLGL2	3993	genome.wustl.edu	37	chr17	73565329	73565329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgacccctacagtgatGacccccggctgggcatccag	7	8	10	16	1	0	3	0	3	0	0	1	3	1	3	6	2	1	2	6	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73565329G>T	ENST00000392550.3	+	14	1621	c.1504G>T	c.(1504-1506)Gac>Tac	p.D502Y	LLGL2_ENST00000167462.5_Missense_Mutation_p.D502Y|LLGL2_ENST00000577200.1_Missense_Mutation_p.D502Y	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	502					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.D502N(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTACAGTGATGACCCCCGGCT	0.672																																																	1	Substitution - Missense(1)	large_intestine(1)											60	64	63					17																	73565329		2203	4300	6503	SO:0001583	missense	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"WD repeat domain containing"	6629	protein-coding gene	gene with protein product			"lethal giant larvae (Drosophila) homolog 2"				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1504G>T	17.37:g.73565329G>T	ENSP00000376333:p.Asp502Tyr		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.D502Y	ENST00000392550.3	37	c.1504	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737513	0.30774	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.48201	0.82;0.82	5.29	3.29	0.37713	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	T	0.78319	-0.2250	10	0.87932	D	0	-14.5691	11.982	0.53125	0.1423:0.0:0.8577:0.0	.	129;491;491;502;502	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Y	502;502;491	ENSP00000167462:D502Y;ENSP00000376333:D502Y	ENSP00000167462:D502Y	D	+	1	0	LLGL2	71076924	1.000000	0.71417	0.149000	0.22428	0.990000	0.78478	9.807000	0.99171	0.615000	0.30124	0.555000	0.69702	GAC	LLGL2	-	superfamily_WD40_repeat_dom	ENSG00000073350		0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1		0	66	0	G	NM_004524		73565329	1			no_errors	ENST00000392550	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T	T	73565329	G	T	73565329	3	4	58	1	0	0	0	0	1	0	0	0	8864	1290	45	3	1589	3	LLGL2	17	73565329	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4717	73565329	7629881	1907	16290											
SAP30BP	29115	genome.wustl.edu	37	chr17	73698584	73698584	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatccagaagctttatgaaCgaaagataaaggagggaatg	18	7	12	4	1	0	4	0	1	0	3	1	7	1	6	1	2	2	1	1	2	7	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73698584C>T	ENST00000584667.1	+	6	678	c.421C>T	c.(421-423)Cga>Tga	p.R141*	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Nonsense_Mutation_p.R125*	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTTATGAACGAAAGATAAA	0.498																																																	0													76	76	76					17																	73698584		2203	4300	6503	SO:0001587	stop_gained	0			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.421C>T	17.37:g.73698584C>T	ENSP00000462116:p.Arg141*			Nonsense_Mutation	SNP	pfam_SAP30BP	p.R141*	ENST00000584667.1	37	c.421	CCDS11726.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.542051	0.96474	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.79	4.81	0.61882	.	0.046788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	0.0084	13.0586	0.58994	0.44:0.56:0.0:0.0	.	.	.	.	X	141;141;125	.	ENSP00000293208:R125X	R	+	1	2	SAP30BP	71210179	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.079000	0.30766	1.420000	0.47138	0.650000	0.86243	CGA	SAP30BP	-	pfam_SAP30BP	ENSG00000161526		0.498	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30BP	HGNC	protein_coding	OTTHUMT00000448227.1	-	0	74	0	C	NM_013260		73698584	1	tier1	-	no_errors	ENST00000584667	ensembl	human	known	74_37	nonsense	36.51	40	23	SNP	1.000	T	T	73698584	C	T	73698584	4	4	58	1	0	0	0	0	0	1	0	0	13879	528	19	1	443	1	SAP30BP	17	73698584	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	133255	73698584	7496626	1908	16291											
ITGB4	3691	genome.wustl.edu	37	chr17	73732134	73732134	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtccctctctgcagacCgaggacgctgctccatgggc	5	9	11	16	2	1	1	0	0	1	1	4	3	3	2	4	2	2	3	4	2	0	1	rs121912462		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73732134C>T	ENST00000200181.3	+	14	1847	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	ITGB4_ENST00000339591.3_Nonsense_Mutation_p.R554*|ITGB4_ENST00000579662.1_Nonsense_Mutation_p.R554*|ITGB4_ENST00000449880.2_Nonsense_Mutation_p.R554*|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Nonsense_Mutation_p.R554*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	554	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTGCAGACCGAGGACGCTG	0.612																																																	0			GRCh37	CM981090	ITGB4	M	rs121912462						199	163	175					17																	73732134		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1660C>T	17.37:g.73732134C>T	ENSP00000200181:p.Arg554*		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Nonsense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.R554*	ENST00000200181.3	37	c.1660	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.661237	0.98905	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	4.95	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5303	0.56111	0.2997:0.7003:0.0:0.0	.	.	.	.	X	470;554;554;554	.	ENSP00000200181:R554X	R	+	1	2	ITGB4	71243729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.329000	0.59260	2.285000	0.76669	0.558000	0.71614	CGA	ITGB4	-	pirsf_Integrin_bsu-4,pfam_EGF_extracell	ENSG00000132470		0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	-	0	39	0	C			73732134	1	tier1	rs121912462	no_errors	ENST00000200181	ensembl	human	known	74_37	nonsense	44.00	14	11	SNP	1.000	T	T	73732134	C	T	73732134	4	4	58	1	0	0	0	0	0	1	0	0	7924	644	23	1	1710	1	ITGB4	17	73732134	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	33550	73732134	7463076	1909	16292											
TRIM65	201292	genome.wustl.edu	37	chr17	73886925	73886925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatggcacagggtcaGggtcctaccctcgaggagcc	7	7	15	12	1	1	1	1	1	0	0	3	3	2	2	3	5	2	2	3	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73886925G>T	ENST00000269383.3	-	6	1554	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	497	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACAGGGTCAGGGTCCTACCC	0.637																																																	0													26	26	26					17																	73886925		2198	4294	6492	SO:0001583	missense	0			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	27316	protein-coding gene	gene with protein product			"tripartite motif-containing 65"			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1489C>A	17.37:g.73886925G>T	ENSP00000269383:p.Leu497Met		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L497M	ENST00000269383.3	37	c.1489	CCDS11732.1	17	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213647	0.58452	.	.	ENSG00000141569	ENST00000269383	T	0.75821	-0.97	5.2	0.673	0.17941	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.345297	0.20876	N	0.084096	T	0.76800	0.4038	L	0.60904	1.88	0.24444	N	0.99451	D	0.69078	0.997	D	0.68621	0.959	T	0.63910	-0.6530	10	0.59425	D	0.04	.	2.1606	0.03824	0.1882:0.3257:0.3612:0.1249	.	497	Q6PJ69	TRI65_HUMAN	M	497	ENSP00000269383:L497M	ENSP00000269383:L497M	L	-	1	2	TRIM65	71398520	0.252000	0.23972	0.944000	0.38274	0.993000	0.82548	0.631000	0.24568	0.581000	0.29539	0.561000	0.74099	CTG	TRIM65	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000141569		0.637	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM65	HGNC	protein_coding	OTTHUMT00000255170.2		0	81	0	G	NM_173547		73886925	-1			no_errors	ENST00000269383	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.335	T	T	73886925	G	T	73886925	3	4	58	1	0	0	0	0	1	0	0	0	16587	991	35	3	68	3	TRIM65	17	73886925	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	154791	73886925	7308285	1910	16293											
GALR2	8811	genome.wustl.edu	37	chr17	74073035	74073035	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctcgggtgcccggcgCgccaagcgcaaggtgacacg	6	3	18	14	7	0	1	0	1	0	0	1	1	0	1	2	4	2	2	2	4	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:74073035C>T	ENST00000329003.3	+	2	777	c.687C>T	c.(685-687)cgC>cgT	p.R229R	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	229					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTGCCCGGCGCGCCAAGCGCA	0.697																																																	0													18	19	19					17																	74073035		2196	4290	6486	SO:0001819	synonymous_variant	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.687C>T	17.37:g.74073035C>T			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt	p.R229	ENST00000329003.3	37	c.687	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GAL2_rcpt	ENSG00000182687		0.697	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	-	0	53	0	C			74073035	1	tier1	-	no_errors	ENST00000329003	ensembl	human	known	74_37	silent	58.06	13	18	SNP	1.000	T	T	74073035	C	T	74073035	2	4	58	1	0	0	0	0	0	0	0	1	6253	755	27	1		1	GALR2	17	74073035	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	186110	74073035	7122175	1911	16294											
CYGB	114757	genome.wustl.edu	37	chr17	74524670	74524670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttaggggtcctacggccccGaagagggcagtgtggccggt	6	7	18	10	3	0	1	0	0	0	1	1	2	1	1	4	6	1	2	4	6	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:74524670G>A	ENST00000293230.5	-	4	925	c.563C>T	c.(562-564)tCg>tTg	p.S188L	CYGB_ENST00000586160.1_5'UTR|CYGB_ENST00000589145.1_Missense_Mutation_p.S123L|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000590175.1_Missense_Mutation_p.S123L|CYGB_ENST00000589342.1_Silent_p.F133F	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	188					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						CTACGGCCCCGAAGAGGGCAG	0.632																																																	0													42	38	39					17																	74524670		2196	4289	6485	SO:0001583	missense	0			AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"stellate cell activation-associated protein", "histoglobin"	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.563C>T	17.37:g.74524670G>A	ENSP00000293230:p.Ser188Leu		Q541Y7|Q8N2X5	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin	p.S188L	ENST00000293230.5	37	c.563	CCDS11746.1	17	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464374	0.63513	.	.	ENSG00000161544	ENST00000293230	D	0.94497	-3.44	4.62	4.62	0.57501	.	0.472370	0.16601	N	0.207360	D	0.88555	0.6468	L	0.36672	1.1	0.80722	D	1	P	0.45474	0.859	B	0.23150	0.044	D	0.90275	0.4310	10	0.87932	D	0	-0.0708	14.9748	0.71264	0.0:0.0:1.0:0.0	.	188	Q8WWM9	CYGB_HUMAN	L	188	ENSP00000293230:S188L	ENSP00000293230:S188L	S	-	2	0	CYGB	72036265	0.996000	0.38824	0.988000	0.46212	0.769000	0.43574	5.159000	0.64923	2.124000	0.65301	0.313000	0.20887	TCG	CYGB	-	NULL	ENSG00000161544		0.632	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYGB	HGNC	protein_coding	OTTHUMT00000450590.1	-	0	85	0	G	NM_134268		74524670	-1	tier1	-	no_errors	ENST00000293230	ensembl	human	known	74_37	missense	37.50	40	24	SNP	0.879	A	A	74524670	G	A	74524670	3	1	58	1	0	0	0	0	1	0	0	0	4148	1059	37	1	13	1	CYGB	17	74524670	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	451635	74524670	6670540	1912	16295											
MGAT5B	146664	genome.wustl.edu	37	chr17	74900438	74900438	+	Frame_Shift_Del	DEL	C	C	-																															agtgaggtcgagtggttctgCcccccgctgccctggaggaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:74900438delC	ENST00000569840.2	+	6	1198	c.624delC	c.(622-624)tgcfs	p.C208fs	MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.C219fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.C208fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	208					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTGGTTCTGCCCCCCGCTGC	0.682																																																	0													43	32	36					17																	74900438		2203	4295	6498	SO:0001589	frameshift_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.624delC	17.37:g.74900438delC	ENSP00000456037:p.Cys208fs		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Del	DEL	superfamily_PyrdxlP-dep_Trfase	p.P221fs	ENST00000569840.2	37	c.657	CCDS59299.1	17																																																																																			MGAT5B	-	NULL	ENSG00000167889		0.682	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2		0	102	0	C	NM_144677		74900438	1	tier1		no_errors	ENST00000428789	ensembl	human	known	74_37	frame_shift_del	25.76	49	17	DEL	0.987	-	-	74900438	C	-	74900438	7	5	58	1	0	1	0	1	0	0	0	0	9587	747	26	0	747	0	MGAT5B	17	74900438	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	375768	74900438	6294772	1913	16296											
TNRC6C	57690	genome.wustl.edu	37	chr17	76047107	76047107	+	Frame_Shift_Del	DEL	G	G	-																															ggccaatccaggtacaaactGgggggagactttaaaacctg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76047107delG	ENST00000588061.1	+	5	2691	c.1964delG	c.(1963-1965)tggfs	p.W655fs	TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.W655fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	655	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTACAAACTGGGGGGAGACT	0.512																																																	0													34	36	36					17																	76047107		1913	4112	6025	SO:0001589	frameshift_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1964delG	17.37:g.76047107delG	ENSP00000468647:p.Trp655fs		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E657fs	ENST00000588061.1	37	c.1964	CCDS45798.1	17																																																																																			TNRC6C	-	NULL	ENSG00000078687		0.512	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1		0	27	0	G	NM_018996		76047107	1	tier1		no_errors	ENST00000335749	ensembl	human	known	74_37	frame_shift_del	37.14	22	13	DEL	1.000	-	-	76047107	G	-	76047107	7	5	58	1	0	1	0	1	0	0	0	0	16389	1357	47	0	1966	0	TNRC6C	17	76047107	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	1146669	76047107	5148103	1914	16297											
AFMID	125061	genome.wustl.edu	37	chr17	76200772	76200772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggtccacccgctgaCggcacagggagtggccgtgg	6	7	15	13	3	1	1	1	1	0	0	2	2	2	2	3	5	0	2	3	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76200772C>T	ENST00000327898.5	+	5	353	c.344C>T	c.(343-345)aCg>aTg	p.T115M	AFMID_ENST00000409257.5_Missense_Mutation_p.T115M|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron					arylformamidase									p.T115M(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CACCCGCTGACGGCACAGGGA	0.592																																																	1	Substitution - Missense(1)	large_intestine(1)											97	69	78					17																	76200772		2203	4300	6503	SO:0001583	missense	0			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.344C>T	17.37:g.76200772C>T	ENSP00000328938:p.Thr115Met			Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.T115M	ENST00000327898.5	37	c.344	CCDS45801.1	17	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251235	0.39797	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.11821	2.74;2.74	4.89	4.89	0.63831	Alpha/beta hydrolase fold-3 (1);	0.275715	0.35179	N	0.003387	T	0.32255	0.0823	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.897	T	0.03807	-1.1002	10	0.62326	D	0.03	-22.9163	7.4995	0.27509	0.0:0.8539:0.0:0.1461	.	115;115	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	M	115	ENSP00000386890:T115M;ENSP00000328938:T115M	ENSP00000328938:T115M	T	+	2	0	AFMID	73712367	0.999000	0.42202	0.892000	0.35008	0.071000	0.16799	3.755000	0.55197	2.521000	0.84997	0.655000	0.94253	ACG	AFMID	-	pfam_AB_hydrolase_3	ENSG00000183077		0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	HGNC	protein_coding	OTTHUMT00000333203.1	-	0	98	0	C	XM_058889		76200772	1	tier1	-	no_errors	ENST00000327898	ensembl	human	known	74_37	missense	32.43	49	24	SNP	0.988	T	T	76200772	C	T	76200772	3	4	58	1	0	0	0	0	1	0	0	0	362	536	19	1	362	1	AFMID	17	76200772	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	153665	76200772	4994438	1915	16298											
SOCS3	9021	genome.wustl.edu	37	chr17	76354966	76354966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggtccgagctgtcgcGgatcagaaaggtgccggcgg	6	6	18	11	6	1	1	1	0	0	1	3	3	2	2	2	5	2	2	2	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76354966G>A	ENST00000330871.2	-	2	626	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	71	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GAGCTGTCGCGGATCAGAAAG	0.647																																																	0													27	25	26					17																	76354966		2201	4300	6501	SO:0001583	missense	0			AB004904	CCDS11756.1	17q25.3	2014-09-17						"Suppressors of cytokine signaling", "SH2 domain containing"	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.211C>T	17.37:g.76354966G>A	ENSP00000330341:p.Arg71Cys		O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R71C	ENST00000330871.2	37	c.211	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403572	0.62288	.	.	ENSG00000184557	ENST00000330871	D	0.99292	-5.7	4.13	4.13	0.48395	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97654	1.0156	10	0.87932	D	0	-18.2304	12.5062	0.55981	0.0:0.0:0.821:0.179	.	71	O14543	SOCS3_HUMAN	C	71	ENSP00000330341:R71C	ENSP00000330341:R71C	R	-	1	0	SOCS3	73866561	1.000000	0.71417	0.999000	0.59377	0.271000	0.26615	6.022000	0.70839	1.845000	0.53610	0.313000	0.20887	CGC	SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000184557		0.647	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	-	0	92	0	G			76354966	-1	tier1	-	no_errors	ENST00000330871	ensembl	human	known	74_37	missense	38.10	65	40	SNP	1.000	A	A	76354966	G	A	76354966	3	1	58	1	0	0	0	0	1	0	0	0	14960	1116	39	1	470	1	SOCS3	17	76354966	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	154194	76354966	4840244	1916	16299											
DNAH17	8632	genome.wustl.edu	37	chr17	76491157	76491157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacatatcagttcgaagtCggggacgaccatggcacagg	11	7	12	11	3	2	0	2	0	0	0	4	3	2	1	1	4	0	2	1	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76491157C>T	ENST00000585328.1	-	39	6035	c.5911G>A	c.(5911-5913)Gac>Aac	p.D1971N	RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.D1962N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1962	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTTCGAAGTCGGGGACGACC	0.602																																																	0													25	29	28					17																	76491157		2042	4206	6248	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5911G>A	17.37:g.76491157C>T	ENSP00000465516:p.Asp1971Asn		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.D1962N	ENST00000585328.1	37	c.5884		17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593358	0.86953	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.14893	2.47	3.76	3.76	0.43208	.	.	.	.	.	T	0.39036	0.1063	M	0.77712	2.385	0.48395	D	0.999646	.	.	.	.	.	.	T	0.44636	-0.9315	7	0.66056	D	0.02	.	15.8011	0.78454	0.0:1.0:0.0:0.0	.	.	.	.	N	1971;1962	ENSP00000374490:D1962N	ENSP00000300671:D1971N	D	-	1	0	DNAH17	74002752	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	7.420000	0.80191	1.937000	0.56155	0.499000	0.49734	GAC	DNAH17	-	superfamily_P-loop_NTPase	ENSG00000187775		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0	37	0	C	NM_173628		76491157	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	T	T	76491157	C	T	76491157	3	4	58	1	0	0	0	0	1	0	0	0	4615	884	31	1	7634	1	DNAH17	17	76491157	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	136191	76491157	4704053	1917	16300											
USP36	57602	genome.wustl.edu	37	chr17	76799558	76799558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctcgcgtggtggcCgtccgtaacacatcccacct	5	9	10	17	4	0	0	0	0	0	0	3	0	2	0	5	2	3	3	5	2	1	1	rs200106890		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76799558C>T	ENST00000542802.3	-	16	3162	c.2719G>A	c.(2719-2721)Ggc>Agc	p.G907S	USP36_ENST00000449938.2_Missense_Mutation_p.G512S|USP36_ENST00000312010.6_Missense_Mutation_p.G907S			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	907					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCGTGGTGGCCGTCCGTAACA	0.632																																																	0								C	SER/GLY	0,4406		0,0,2203	110	94	99		2719	-1.6	0	17		99	2,8598	2.2+/-6.3	0,2,4298	no	missense	USP36	NM_025090.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	907/1124	76799558	2,13004	2203	4300	6503	SO:0001583	missense	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2719G>A	17.37:g.76799558C>T	ENSP00000441214:p.Gly907Ser		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G907S	ENST00000542802.3	37	c.2719	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	C	9.179	1.023126	0.19433	0.0	2.33E-4	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.14640	3.45;2.49;3.45	4.95	-1.65	0.08291	.	1.174600	0.05899	N	0.629580	T	0.05640	0.0148	N	0.04090	-0.28	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.42015	-0.9476	10	0.08599	T	0.76	-7.3372	8.5363	0.33366	0.0:0.4453:0.0:0.5547	.	907;907	Q9P275;Q9P275-2	UBP36_HUMAN;.	S	907;512;907	ENSP00000310590:G907S;ENSP00000401119:G512S;ENSP00000441214:G907S	ENSP00000310590:G907S	G	-	1	0	USP36	74311153	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.714000	0.05002	-0.609000	0.05724	-0.812000	0.03155	GGC	USP36	-	NULL	ENSG00000055483		0.632	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	-	0	77	0	C	NM_025090		76799558	-1	tier1	rs200106890	no_errors	ENST00000312010	ensembl	human	known	74_37	missense	37.50	30	18	SNP	0.000	T	T	76799558	C	T	76799558	3	4	58	1	0	0	0	0	1	0	0	0	17116	652	23	1	672	1	USP36	17	76799558	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	308401	76799558	4395652	1918	16301											
CBX8	57332	genome.wustl.edu	37	chr17	77768661	77768662	+	Frame_Shift_Ins	INS	-	-	G																															tacaggccccccccagagctINSgggggggcctgagccatgtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:77768661_77768662insG	ENST00000269385.4	-	5	1059_1060	c.942_943insC	c.(940-945)cccagcfs	p.S315fs	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	315					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.S315fs*43(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCCCAGAGCTGGGGGGGCCTG	0.693																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.943dupC	17.37:g.77768668_77768668dupG	ENSP00000269385:p.Ser315fs		Q96H39|Q9NR07	Frame_Shift_Ins	INS	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.S314fs	ENST00000269385.4	37	c.943_942	CCDS11765.1	17																																																																																			CBX8	-	NULL	ENSG00000141570		0.693	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1		0	22	0	-	NM_020649		77768662	-1	tier1		no_errors	ENST00000269385	ensembl	human	known	74_37	frame_shift_ins	18.18	9	2	INS	0.052:0.011	G	G	77768662	-	G	77768661	7	5	58	1	0	1	1	0	0	0	0	0	2731	1580	55	0	205	0	CBX8	17	77768661	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	969103	77768661	3426549	1919	16302											
CBX8	57332	genome.wustl.edu	37	chr17	77768912	77768912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggaaggggtgtcgtccAgcttcctgcccttgaggtac	5	9	13	14	2	0	1	0	1	0	0	3	2	2	2	5	4	3	2	5	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:77768912A>G	ENST00000269385.4	-	5	809	c.692T>C	c.(691-693)cTg>cCg	p.L231P	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	231					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTGTCGTCCAGCTTCCTGCC	0.662																																																	0													29	29	29					17																	77768912		2203	4300	6503	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.692T>C	17.37:g.77768912A>G	ENSP00000269385:p.Leu231Pro		Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L231P	ENST00000269385.4	37	c.692	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	a	11.67	1.708453	0.30322	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T	0.47528	0.84	4.87	4.87	0.63330	.	1.161370	0.06380	N	0.715021	T	0.33962	0.0881	N	0.22421	0.69	0.50039	D	0.999849	P	0.39624	0.681	B	0.34536	0.185	T	0.04752	-1.0929	10	0.30854	T	0.27	-6.0904	9.3958	0.38401	0.9194:0.0:0.0806:0.0	.	231	Q9HC52	CBX8_HUMAN	P	231;206;221	ENSP00000269385:L231P	ENSP00000269385:L231P	L	-	2	0	CBX8	75383507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.104000	0.57790	1.967000	0.57214	0.370000	0.22315	CTG	CBX8	-	NULL	ENSG00000141570		0.662	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	-	0	47	0	A	NM_020649		77768912	-1	tier1	-	no_errors	ENST00000269385	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.990	G	G	77768912	A	G	77768912	3	3	58	1	0	0	0	0	1	0	0	0	2731	175	7	4	456	4	CBX8	17	77768912	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	251	77768912	3426298	1920	16303											
CCDC40	55036	genome.wustl.edu	37	chr17	78055751	78055751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagctcaggaggaagaCggatgctgccatccgggaga	10	5	17	9	2	1	2	1	0	0	2	2	7	2	6	2	5	3	3	2	5	1	0	rs376363442		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78055751C>T	ENST00000397545.4	+	12	1910	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T628M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	628					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGAGGAAGACGGATGCTGCC	0.572																																																	0								C	MET/THR	0,4300		0,0,2150	39	44	42		1883	-0.9	0	17		42	1,8517		0,1,4258	no	missense	CCDC40	NM_017950.3	81	0,1,6408	TT,TC,CC		0.0117,0.0,0.0078	benign	628/1143	78055751	1,12817	2150	4259	6409	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1883C>T	17.37:g.78055751C>T	ENSP00000380679:p.Thr628Met		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.T628M	ENST00000397545.4	37	c.1883	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	3.337	-0.135348	0.06711	0.0	1.17E-4	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.42131	0.98;1.0	5.07	-0.864	0.10666	.	.	.	.	.	T	0.11922	0.0290	N	0.00707	-1.245	0.09310	N	1	B;B	0.15930	0.009;0.015	B;B	0.06405	0.002;0.002	T	0.29243	-1.0018	9	0.25106	T	0.35	-17.8999	6.084	0.19956	0.1196:0.2161:0.0:0.6643	.	628;411	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	628	ENSP00000364011:T628M;ENSP00000380679:T628M	ENSP00000364011:T628M	T	+	2	0	CCDC40	75670346	0.724000	0.28038	0.001000	0.08648	0.004000	0.04260	1.136000	0.31467	-0.017000	0.14103	-0.290000	0.09829	ACG	CCDC40	-	NULL	ENSG00000141519		0.572	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0	27	0	C	XM_371082		78055751	1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	missense	48.39	16	15	SNP	0.003	T	T	78055751	C	T	78055751	3	4	58	1	0	0	0	0	1	0	0	0	2819	536	19	1	1929	1	CCDC40	17	78055751	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	286839	78055751	3139459	1921	16304											
GAA	2548	genome.wustl.edu	37	chr17	78078888	78078888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggacatcctgaccctgcGgctggacgtgatgatggaga	10	7	14	10	2	0	4	0	3	0	1	1	7	1	6	2	4	1	1	2	4	1	0	rs376685205		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78078888G>T	ENST00000302262.3	+	2	722	c.503G>T	c.(502-504)cGg>cTg	p.R168L	GAA_ENST00000390015.3_Missense_Mutation_p.R168L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	168					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CTGACCCTGCGGCTGGACGTG	0.652																																																	0													40	32	35					17																	78078888		2159	4232	6391	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.503G>T	17.37:g.78078888G>T	ENSP00000305692:p.Arg168Leu		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.R168L	ENST00000302262.3	37	c.503	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243436	0.39697	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.84589	-1.87;-1.87	4.85	-0.809	0.10864	Glycoside hydrolase-type carbohydrate-binding (1);	0.691790	0.14164	N	0.337151	T	0.77968	0.4210	L	0.45228	1.405	0.22531	N	0.999017	B	0.32040	0.353	B	0.35240	0.198	T	0.66288	-0.5961	10	0.40728	T	0.16	-25.7499	8.6003	0.33740	0.7423:0.0:0.2577:0.0	.	168	P10253	LYAG_HUMAN	L	168	ENSP00000305692:R168L;ENSP00000374665:R168L	ENSP00000305692:R168L	R	+	2	0	GAA	75693483	0.000000	0.05858	0.207000	0.23584	0.961000	0.63080	-0.166000	0.09954	-0.030000	0.13804	0.591000	0.81541	CGG	GAA	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000171298		0.652	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0	54	0	G			78078888	1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.822	T	T	78078888	G	T	78078888	3	4	58	1	0	0	0	0	1	0	0	0	6171	1116	39	2	505	2	GAA	17	78078888	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	23137	78078888	3116322	1922	16305											
RNF213	57674	genome.wustl.edu	37	chr17	78337441	78337441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgcaatggcctgcacGgagatgctgacaagaaacac	12	7	11	11	2	0	3	0	1	0	2	0	4	0	3	2	2	4	3	2	2	3	1	rs145731088		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78337441G>A	ENST00000582970.1	+	41	11744	c.11601G>A	c.(11599-11601)acG>acA	p.T3867T	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.T1940T|RNF213_ENST00000508628.2_Silent_p.T3916T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3867					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGCCTGCACGGAGATGCTGA	0.642																																																	0								G		0,4406		0,0,2203	85	59	68		11748	-7.5	0	17	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3916/5257	78337441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11601G>A	17.37:g.78337441G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.T3867	ENST00000582970.1	37	c.11601	CCDS58606.1	17																																																																																			RNF213	-	superfamily_P-loop_NTPase	ENSG00000173821		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	37	0	G	NM_020914		78337441	1	tier1	rs145731088	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.003	A	A	78337441	G	A	78337441	2	1	58	1	0	0	0	0	0	0	0	1	13522	1103	39	1		1	RNF213	17	78337441	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	258553	78337441	2857769	1923	16306											
BAIAP2	10458	genome.wustl.edu	37	chr17	79077331	79077331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggcgcagaagctgccGctgtggcaacaggcctgtgc	6	7	15	13	2	0	1	0	0	0	1	0	1	0	1	2	3	5	5	2	3	2	0	rs371666322		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79077331G>A	ENST00000321300.6	+	8	765	c.672G>A	c.(670-672)ccG>ccA	p.P224P	BAIAP2_ENST00000321280.7_Silent_p.P224P|BAIAP2_ENST00000428708.2_Silent_p.P224P|BAIAP2_ENST00000575712.1_Silent_p.P224P|BAIAP2_ENST00000416299.2_Silent_p.P87P|BAIAP2_ENST00000575245.1_Silent_p.P257P|BAIAP2_ENST00000435091.3_Silent_p.P224P|BAIAP2_ENST00000392411.3_Silent_p.P146P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	224	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAAGCTGCCGCTGTGGCAAC	0.697																																																	0								G	,,,	0,4346		0,0,2173	9	10	10		672,672,672,672	-9.9	0.7	17		10	1,8513		0,1,4256	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,1,6429	AA,AG,GG		0.0117,0.0,0.0078	,,,	224/535,224/521,224/522,224/553	79077331	1,12859	2173	4257	6430	SO:0001819	synonymous_variant	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.672G>A	17.37:g.79077331G>A			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P224	ENST00000321300.6	37	c.672	CCDS11775.1	17																																																																																			BAIAP2	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000175866		0.697	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	-	0	16	0	G			79077331	1	tier1	-	no_errors	ENST00000321300	ensembl	human	known	74_37	silent	41.67	7	5	SNP	0.001	A	A	79077331	G	A	79077331	2	1	58	1	0	0	0	0	0	0	0	1	1302	1074	38	1		1	BAIAP2	17	79077331	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	739890	79077331	2117879	1924	16307											
AZI1	22994	genome.wustl.edu	37	chr17	79164775	79164775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacgcagattctcgccctCggcctccccaagctggccct	6	7	9	19	3	1	2	0	0	1	2	4	2	2	2	5	2	1	2	5	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79164775C>T	ENST00000269392.4	-	23	3131	c.2884G>A	c.(2884-2886)Gag>Aag	p.E962K	AZI1_ENST00000374782.3_Missense_Mutation_p.E923K|AZI1_ENST00000575907.1_Missense_Mutation_p.E926K|AZI1_ENST00000450824.2_Missense_Mutation_p.E959K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		962					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCTCGCCCTCGGCCTCCCCA	0.682																																																	0													31	39	36					17																	79164775		2202	4300	6502	SO:0001583	missense	0																														ENST00000269392.4:c.2884G>A	17.37:g.79164775C>T	ENSP00000269392:p.Glu962Lys		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.E962K	ENST00000269392.4	37	c.2884		17	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818995	0.71028	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.21191	2.06;2.02;2.07	4.34	3.33	0.38152	.	0.061993	0.64402	D	0.000007	T	0.39462	0.1079	M	0.65498	2.005	0.47308	D	0.999381	D;P;D;P	0.71674	0.998;0.951;0.996;0.585	P;P;P;B	0.59487	0.858;0.519;0.714;0.071	T	0.39210	-0.9625	10	0.87932	D	0	-18.1241	13.9752	0.64268	0.0:0.8469:0.1531:0.0	.	959;962;923;959	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	959;923;962	ENSP00000393583:E959K;ENSP00000363914:E923K;ENSP00000269392:E962K	ENSP00000269392:E962K	E	-	1	0	AZI1	76779370	1.000000	0.71417	0.546000	0.28166	0.375000	0.29983	5.686000	0.68211	0.984000	0.38629	0.585000	0.79938	GAG	AZI1	-	superfamily_t-SNARE	ENSG00000141577		0.682	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	-	0	54	0	C			79164775	-1	tier1	-	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	40.74	32	22	SNP	0.998	T	T	79164775	C	T	79164775	3	4	58	1	0	0	0	0	1	0	0	0	1241	893	31	1	383	1	AZI1	17	79164775	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	87444	79164775	2030435	1925	16308											
BAHCC1	57597	genome.wustl.edu	37	chr17	79409064	79409064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgggcagagagaaggcggGcaaggccgctgagggcaagg	10	2	21	8	2	0	3	0	1	0	2	0	4	0	3	1	6	0	5	1	6	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79409064G>A	ENST00000307745.7	+	9	689	c.689G>A	c.(688-690)gGc>gAc	p.G230D																								GAGAAGGCGGGCAAGGCCGCT	0.697																																																	0													15	21	19					17																	79409064		2090	4174	6264	SO:0001583	missense	0																														ENST00000307745.7:c.689G>A	17.37:g.79409064G>A	ENSP00000303486:p.Gly230Asp			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G230D	ENST00000307745.7	37	c.689		17	.	.	.	.	.	.	.	.	.	.	g	9.166	1.019969	0.19433	.	.	ENSG00000171282	ENST00000307745	T	0.11821	2.74	3.87	3.87	0.44632	.	.	.	.	.	T	0.12092	0.0294	L	0.50333	1.59	0.20975	N	0.999811	B	0.30482	0.281	B	0.27715	0.082	T	0.15838	-1.0423	9	0.20519	T	0.43	.	8.3356	0.32213	0.0:0.1682:0.6589:0.1729	.	230	Q9P281	BAHC1_HUMAN	D	230	ENSP00000303486:G230D	ENSP00000303486:G230D	G	+	2	0	AC110285.1	77023659	0.034000	0.19679	0.508000	0.27688	0.377000	0.30045	2.026000	0.41069	2.174000	0.68829	0.298000	0.19748	GGC	RP11-1055B8.7	-	NULL	ENSG00000171282		0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding		-	0	39	0	G			79409064	1	tier1	-	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.893	A	A	79409064	G	A	79409064	3	1	58	1	0	0	0	0	1	0	0	0	1297	1203	42	3	538	3	BAHCC1	17	79409064	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	244289	79409064	1786146	1926	16309											
BAHCC1	57597	genome.wustl.edu	37	chr17	79410506	79410506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgcagtggccttggccCggcagaaggacacagtgagc	9	6	15	11	1	0	2	0	1	0	1	0	3	0	3	2	4	2	3	2	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79410506C>T	ENST00000307745.7	+	9	2131	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	RP11-1055B8.7_ENST00000570375.1_3'UTR																							GGCCTTGGCCCGGCAGAAGGA	0.711																																																	0													5	7	6					17																	79410506		1997	4080	6077	SO:0001583	missense	0																														ENST00000307745.7:c.2131C>T	17.37:g.79410506C>T	ENSP00000303486:p.Arg711Trp			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R711W	ENST00000307745.7	37	c.2131		17	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558440	0.65538	.	.	ENSG00000171282	ENST00000307745	T	0.59772	0.24	4.09	-0.641	0.11490	.	.	.	.	.	T	0.73791	0.3632	M	0.80982	2.52	0.41829	D	0.990062	D	0.89917	1.0	D	0.91635	0.999	T	0.75569	-0.3272	9	0.87932	D	0	.	12.7956	0.57558	0.5585:0.4415:0.0:0.0	.	711	Q9P281	BAHC1_HUMAN	W	711	ENSP00000303486:R711W	ENSP00000303486:R711W	R	+	1	2	AC110285.1	77025101	0.736000	0.28164	0.996000	0.52242	0.936000	0.57629	0.504000	0.22626	-0.241000	0.09681	-0.224000	0.12420	CGG	RP11-1055B8.7	-	NULL	ENSG00000171282		0.711	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding			0	22	0	C			79410506	1			no_errors	ENST00000307745	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	T	T	79410506	C	T	79410506	3	4	58	1	0	0	0	0	1	0	0	0	1297	643	23	1	1980	1	BAHCC1	17	79410506	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1442	79410506	1784704	1927	16310											
TSPAN10	83882	genome.wustl.edu	37	chr17	79612316	79612317	+	RNA	INS	-	-	G																															gggtctctgggaagtgatctINSgggggggcccctgcccgcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79612316_79612317insG	ENST00000572675.1	+	0	335_336				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)	p.L116fs*19(1)		ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGAAGTGATCTGGGGGGGCCCC	0.683																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																										0			BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612323_79612323dupG			Q8N548	Frame_Shift_Ins	INS	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.P115fs	ENST00000572675.1	37	c.335_336		17																																																																																			TSPAN10	-	pfam_Tetraspanin/Peripherin	ENSG00000182612		0.683	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	TSPAN10	HGNC	polymorphic_pseudogene	OTTHUMT00000440313.1		0	81	0	-	NM_031945		79612317	1	tier1		no_errors	ENST00000328585	ensembl	human	known	74_37	frame_shift_ins	39.29	34	22	INS	0.000:0.002	G	G	79612317	-	G	79612316	6	5	58	0	1	1	1	0	0	0	0	0	16682	1580	55	0		0	TSPAN10	17	79612316	RNA	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	201810	79612316	1582894	1928	16311											
TSPAN10	83882	genome.wustl.edu	37	chr17	79612420	79612420	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgccctctgtgagaacAcctgcctgttacgtggcttc	5	11	12	13	2	1	1	0	1	1	1	2	2	1	1	3	2	3	2	3	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79612420A>G	ENST00000572675.1	+	0	439				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGTGAGAACACCTGCCTGTT	0.701																																																	0													32	41	38					17																	79612420		2060	4192	6252			0			BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"Tetraspanins"	29942	protein-coding gene	gene with protein product	"oculospanin"					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612420A>G			Q8N548	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T147A	ENST00000572675.1	37	c.439		17	.	.	.	.	.	.	.	.	.	.	A	5.523	0.281397	0.10458	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.79141	-1.24	4.15	-5.36	0.02689	Tetraspanin, conserved site (1);	1.249750	0.05398	N	0.540211	T	0.62233	0.2411	L	0.33293	1	0.09310	N	1	B;B	0.18461	0.028;0.002	B;B	0.20767	0.031;0.005	T	0.45585	-0.9251	10	0.16896	T	0.51	-5.9055	6.965	0.24617	0.5729:0.2009:0.2261:0.0	.	147;147	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	A	147	ENSP00000331620:T147A	ENSP00000331620:T147A	T	+	1	0	TSPAN10	77222825	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.817000	0.04472	-1.416000	0.02019	0.379000	0.24179	ACC	TSPAN10	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000182612		0.701	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	TSPAN10	HGNC	polymorphic_pseudogene	OTTHUMT00000440313.1	-	0	173	0	A	NM_031945		79612420	1	tier1	-	no_errors	ENST00000328585	ensembl	human	known	74_37	missense	51.64	59	63	SNP	0.001	G	G	79612420	A	G	79612420	1	3	58	0	1	0	0	0	0	0	0	0	16682	159	6	4		4	TSPAN10	17	79612420	RNA	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	104	79612420	1582790	1929	16312											
FASN	2194	genome.wustl.edu	37	chr17	80041180	80041180	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttgaggggccgtaccacCccatcccggatgccggcctg	6	6	12	17	3	0	1	0	1	0	0	1	2	1	2	7	4	2	1	7	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80041180C>A	ENST00000306749.2	-	32	5681	c.5463G>T	c.(5461-5463)ggG>ggT	p.G1821G	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1821	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCCGTACCACCCCATCCCGGA	0.632																																					Colon(59;314 1043 11189 28578 32273)												0													82	76	78					17																	80041180		2200	4297	6497	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5463G>T	17.37:g.80041180C>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.G1821	ENST00000306749.2	37	c.5463	CCDS11801.1	17																																																																																			FASN	-	smart_PKS_ER	ENSG00000169710		0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	117	0	C	NM_004104		80041180	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	39.13	42	27	SNP	0.002	A	A	80041180	C	A	80041180	2	1	58	1	0	0	0	0	0	0	0	1	5705	610	22	3		3	FASN	17	80041180	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	428760	80041180	1154030	1930	16313											
FASN	2194	genome.wustl.edu	37	chr17	80047566	80047566	+	Frame_Shift_Del	DEL	G	G	-																															ggcaggcgggcaccacgcccGgggggcagcgctgtttacac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80047566delG	ENST00000306749.2	-	12	2125	c.1907delC	c.(1906-1908)ccgfs	p.P636fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	636	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CACCACGCCCGGGGGGCAGCG	0.687																																					Colon(59;314 1043 11189 28578 32273)												0													20	19	19					17																	80047566		2175	4275	6450	SO:0001589	frameshift_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1907delC	17.37:g.80047566delG	ENSP00000304592:p.Pro636fs		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.P636fs	ENST00000306749.2	37	c.1907	CCDS11801.1	17																																																																																			FASN	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	ENSG00000169710		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1		0	89	0	G	NM_004104		80047566	-1	tier1		no_errors	ENST00000306749	ensembl	human	known	74_37	frame_shift_del	42.86	40	30	DEL	0.705	-	-	80047566	G	-	80047566	7	5	58	1	0	1	0	1	0	0	0	0	5705	1116	39	0	5756	0	FASN	17	80047566	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	6386	80047566	1147644	1931	16314											
CCDC57	284001	genome.wustl.edu	37	chr17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccttctgtctgagtcGtgtcaccagcaggtttagga	7	12	10	12	1	4	1	2	1	2	0	5	2	4	2	3	2	1	2	3	2	1	3	rs201336748		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80121090G>A	ENST00000389641.4	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|CCDC57_ENST00000327026.3_5'UTR|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617													G|||	1	0.000199681	0	0	5008	,	,		18669	0		0	False		,,,				2504	0.001																0								G	stop/ARG	4,4174		0,4,2085	147	156	153		2026	0.6	0	17		153	0,8406		0,0,4203	yes	stop-gained	CCDC57	NM_198082.2		0,4,6288	AA,AG,GG		0.0,0.0957,0.0318		676/916	80121090	4,12580	2089	4203	6292	SO:0001587	stop_gained	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2026C>T	17.37:g.80121090G>A	ENSP00000374292:p.Arg676*		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	NULL	p.R676*	ENST00000389641.4	37	c.2026		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259674|4.259674	0.80246|0.80246	9.57E-4|9.57E-4	0.0|0.0	ENSG00000176155|ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343|ENST00000419322	.|.	.|.	.|.	2.86|2.86	0.581|0.581	0.17407|0.17407	.|.	0.967105|.	0.08401|.	N|.	0.951395|.	.|T	.|0.38772	.|0.1053	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33369	.|-0.9871	.|5	0.02654|0.45353	T|T	1|0.12	-2.432|-2.432	8.407|8.407	0.32621|0.32621	0.0:0.4809:0.5191:0.0|0.0:0.4809:0.5191:0.0	.|.	.|.	.|.	.|.	X|M	676;676;184;676|21	.|.	ENSP00000315967:R184X|ENSP00000408124:T21M	R|T	-|-	1|2	2|0	CCDC57|CCDC57	77714379|77714379	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.143000|0.143000	0.16115|0.16115	0.198000|0.198000	0.20407|0.20407	0.557000|0.557000	0.71058|0.71058	CGA|ACG	CCDC57	-	NULL	ENSG00000176155		0.617	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	-	0	55	0	G	NM_198082		80121090	-1	tier1	rs201336748	no_errors	ENST00000389641	ensembl	human	known	74_37	nonsense	36.84	24	14	SNP	0.000	A	A	80121090	G	A	80121090	4	1	58	1	0	0	0	0	0	1	0	0	2834	1153	40	1	741	1	CCDC57	17	80121090	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	73524	80121090	1074120	1932	16315											
TEX19	400629	genome.wustl.edu	37	chr17	80320144	80320144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgcttcacctgcttcaagGctgcctttctagactttaaa	8	16	6	11	0	3	1	2	0	1	1	3	1	3	1	2	1	3	3	2	1	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80320144G>A	ENST00000333437.4	+	2	428	c.118G>A	c.(118-120)Gct>Act	p.A40T		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	40					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CTGCTTCAAGGCTGCCTTTCT	0.512																																																	0													149	137	141					17																	80320144		2203	4300	6503	SO:0001583	missense	0			BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.118G>A	17.37:g.80320144G>A	ENSP00000331500:p.Ala40Thr			Missense_Mutation	SNP	NULL	p.A40T	ENST00000333437.4	37	c.118	CCDS11809.1	17	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653573	0.29425	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.79	-1.77	0.07982	.	.	.	.	.	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.20140	-1.0284	8	0.30854	T	0.27	-24.0844	3.4393	0.07457	0.4187:0.0:0.4033:0.1779	.	40	Q8NA77	TEX19_HUMAN	T	40	.	ENSP00000331500:A40T	A	+	1	0	TEX19	77913433	0.005000	0.15991	0.014000	0.15608	0.222000	0.24845	-0.482000	0.06544	-0.281000	0.09141	-0.244000	0.11960	GCT	TEX19	-	NULL	ENSG00000182459		0.512	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX19	HGNC	protein_coding	OTTHUMT00000256331.1	-	0	100	0	G	NM_207459		80320144	1	tier1	-	no_errors	ENST00000333437	ensembl	human	known	74_37	missense	41.46	48	34	SNP	0.085	A	A	80320144	G	A	80320144	3	1	58	1	0	0	0	0	1	0	0	0	15827	1203	42	3	120	3	TEX19	17	80320144	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	199054	80320144	875066	1933	16316											
MYOM1	8736	genome.wustl.edu	37	chr18	3135553	3135554	+	Frame_Shift_Ins	INS	-	-	C																															cagttgcttaccaagtttgtINScccctaccacagtcacctcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:3135553_3135554insC	ENST00000356443.4	-	15	2533_2534	c.2200_2201insG	c.(2200-2202)gacfs	p.D734fs	MYOM1_ENST00000400569.3_Frame_Shift_Ins_p.D734fs|MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.D734fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	734	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCAAGTTTGTCCCCTACCACA	0.446																																																	0																																										SO:0001589	frameshift_variant	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2201dupG	18.37:g.3135557_3135557dupC	ENSP00000348821:p.Asp734fs		Q14BD6|Q6H969|Q6ZUU0	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D734fs	ENST00000356443.4	37	c.2201_2200	CCDS45824.1	18																																																																																			MYOM1	-	superfamily_Fibronectin_type3	ENSG00000101605		0.446	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2		0	27	0	-	NM_003803		3135554	-1	tier1		no_errors	ENST00000356443	ensembl	human	known	74_37	frame_shift_ins	33.33	16	8	INS	1.000:1.000	C	C	3135554	-	C	3135553	7	5	58	1	0	1	1	0	0	0	0	0	10129	1667	58	0	2952	0	MYOM1	18	3135553	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09		3135553	74941695	1934	16317											
LAMA1	284217	genome.wustl.edu	37	chr18	6948545	6948545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaatgcaggcagggatgCtgtgggtgatctaagccaaa	11	7	13	10	0	1	1	0	1	1	0	1	2	1	2	3	3	3	3	3	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:6948545C>A	ENST00000389658.3	-	60	8660	c.8567G>T	c.(8566-8568)aGc>aTc	p.S2856I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2856	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGCAGGGATGCTGTGGGTGAT	0.522																																																	0													108	79	89					18																	6948545		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8567G>T	18.37:g.6948545C>A	ENSP00000374309:p.Ser2856Ile			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.S2856I	ENST00000389658.3	37	c.8567	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696692	0.88830	.	.	ENSG00000101680	ENST00000389658	T	0.70986	-0.53	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.180860	0.47455	D	0.000237	D	0.86719	0.6000	M	0.86178	2.8	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88009	0.2761	10	0.87932	D	0	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	2856;186	P25391;B3KSD8	LAMA1_HUMAN;.	I	2856	ENSP00000374309:S2856I	ENSP00000374309:S2856I	S	-	2	0	LAMA1	6938545	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.454000	0.73493	2.695000	0.91970	0.561000	0.74099	AGC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	98	0	C	NM_005559		6948545	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	43.81	59	46	SNP	1.000	A	A	6948545	C	A	6948545	3	1	58	1	0	0	0	0	1	0	0	0	8633	797	28	3	676	3	LAMA1	18	6948545	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3812992	6948545	71128703	1935	16318											
LAMA1	284217	genome.wustl.edu	37	chr18	6961668	6961668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgctgttcgtggtggCaaatgttaccagccattctg	7	12	11	11	1	1	0	0	0	1	0	2	0	1	0	3	2	3	4	3	2	2	3	rs553037503		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:6961668C>T	ENST00000389658.3	-	53	7636	c.7543G>A	c.(7543-7545)Gcc>Acc	p.A2515T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2515	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTCGTGGTGGCAAATGTTACC	0.562													C|||	1	0.000199681	0	0.0014	5008	,	,		18655	0		0	False		,,,				2504	0																0													66	55	59					18																	6961668		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7543G>A	18.37:g.6961668C>T	ENSP00000374309:p.Ala2515Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.A2515T	ENST00000389658.3	37	c.7543	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216614	0.58452	.	.	ENSG00000101680	ENST00000389658	T	0.79247	-1.25	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.138815	0.47093	D	0.000242	T	0.75525	0.3861	M	0.62723	1.935	0.40739	D	0.982818	B	0.30914	0.3	B	0.32762	0.152	T	0.72697	-0.4215	10	0.30078	T	0.28	.	14.7528	0.69540	0.1444:0.8556:0.0:0.0	.	2515	P25391	LAMA1_HUMAN	T	2515	ENSP00000374309:A2515T	ENSP00000374309:A2515T	A	-	1	0	LAMA1	6951668	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	1.996000	0.40776	2.725000	0.93324	0.655000	0.94253	GCC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	40	0	C	NM_005559		6961668	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	T	T	6961668	C	T	6961668	3	4	58	1	0	0	0	0	1	0	0	0	8633	710	25	3	1728	3	LAMA1	18	6961668	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	13123	6961668	71115580	1936	16319											
LAMA1	284217	genome.wustl.edu	37	chr18	7049079	7049079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtcccatactcacgcGtctggtaacaataggatcca	10	9	8	14	3	2	0	1	0	1	0	4	1	4	1	3	2	3	1	3	2	4	3	rs150637419		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:7049079G>A	ENST00000389658.3	-	5	859	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	256	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATACTCACGCGTCTGGTAACA	0.398																																																	0								G	CYS/ARG	0,4406		0,0,2203	98	82	87		766	1.4	1	18	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	256/3076	7049079	1,13005	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.766C>T	18.37:g.7049079G>A	ENSP00000374309:p.Arg256Cys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R256C	ENST00000389658.3	37	c.766	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737596	0.69304	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.77489	-1.1	5.86	1.42	0.22433	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92048	0.5646	10	0.72032	D	0.01	.	15.1399	0.72601	0.0:0.0:0.247:0.753	.	256	P25391	LAMA1_HUMAN	C	256	ENSP00000374309:R256C	ENSP00000374309:R256C	R	-	1	0	LAMA1	7039079	1.000000	0.71417	0.986000	0.45419	0.933000	0.57130	1.960000	0.40422	0.326000	0.23384	0.563000	0.77884	CGC	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	50	0	G	NM_005559		7049079	-1	tier1	rs150637419	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.998	A	A	7049079	G	A	7049079	3	1	58	1	0	0	0	0	1	0	0	0	8633	1145	40	1	8697	1	LAMA1	18	7049079	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	87411	7049079	71028169	1937	16320											
PTPRM	5797	genome.wustl.edu	37	chr18	8380293	8380293	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcttgtttgtgtttgcaGagctataaacagccttcagc	9	15	8	9	0	2	1	1	0	1	1	2	1	2	1	1	0	5	4	1	0	3	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:8380293G>T	ENST00000332175.8	+	27	4784		c.e27-1		PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGTGTTTGCAGAGCTATAAAC	0.428																																																	0													75	70	72					18																	8380293		2203	4300	6503	SO:0001630	splice_region_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3748-1G>T	18.37:g.8380293G>T			A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	-	e29-1	ENST00000332175.8	37	c.3790-1	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612566	0.87258	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRM	8370293	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	.	PTPRM	-	-	ENSG00000173482		0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	55	0	G		Intron	8380293	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	T	T	8380293	G	T	8380293	5	4	58	1	0	0	0	0	0	0	1	0	12851	956	33	3	3900	3	PTPRM	18	8380293	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1331214	8380293	69696955	1938	16321											
KIAA0802	23255	genome.wustl.edu	37	chr18	8786015	8786015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcctccgagccgcgCgggagctgcaccgccgcgca	4	3	15	19	8	0	0	0	0	0	0	1	2	1	1	6	1	4	3	6	1	0	0	rs373316781|rs569097168	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:8786015C>T	ENST00000306329.11	+	6	2893	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.R605W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R605W|SOGA2_ENST00000359865.3_Missense_Mutation_p.R605W																							CCGAGCCGCGCGGGAGCTGCA	0.721																																																	0													14	15	14					18																	8786015		2183	4246	6429	SO:0001583	missense	0																														ENST00000306329.11:c.2893C>T	18.37:g.8786015C>T	ENSP00000305027:p.Arg965Trp			Missense_Mutation	SNP	pfam_SOGA	p.R605W	ENST00000306329.11	37	c.1813		18	.	.	.	.	.	.	.	.	.	.	C	8.743	0.919456	0.17982	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.45276	0.9;0.9;0.9	5.29	2.21	0.28008	.	0.611731	0.14709	N	0.303091	T	0.34424	0.0897	N	0.22421	0.69	0.48135	D	0.999591	D;D	0.69078	0.996;0.997	B;P	0.49953	0.424;0.627	T	0.08207	-1.0733	10	0.40728	T	0.16	-18.5219	9.1577	0.37002	0.3958:0.5:0.1042:0.0	.	626;605	A8MQ54;Q9Y4B5-3	.;.	W	626;605;605;605	ENSP00000429556:R605W;ENSP00000352927:R605W;ENSP00000382924:R605W	ENSP00000305027:R626W	R	+	1	2	CCDC165	8776015	0.000000	0.05858	0.797000	0.32132	0.177000	0.22998	0.082000	0.14847	1.172000	0.42781	-0.274000	0.10170	CGG	SOGA2	-	NULL	ENSG00000168502		0.721	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0	11	0	C			8786015	1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	68.97	9	20	SNP	0.453	T	T	8786015	C	T	8786015	3	4	58	1	0	0	0	0	1	0	0	0	8221	759	27	1	1831	1	KIAA0802	18	8786015	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	405722	8786015	69291233	1939	16322											
FAM38B	63895	genome.wustl.edu	37	chr18	10752835	10752835	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgagcacaaaccagaaGaggtagctgaagatgatcac	16	6	12	7	0	1	6	1	3	0	3	1	6	1	6	1	2	3	3	1	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:10752835G>T	ENST00000503781.3	-	26	3890	c.3891C>A	c.(3889-3891)ctC>ctA	p.L1297L	PIEZO2_ENST00000580640.1_Silent_p.L1322L|PIEZO2_ENST00000383408.2_3'UTR|PIEZO2_ENST00000302079.6_Silent_p.L1297L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1297					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CAAACCAGAAGAGGTAGCTGA	0.428																																																	0													74	71	71					18																	10752835		692	1591	2283	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3891C>A	18.37:g.10752835G>T			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.L1311	ENST00000503781.3	37	c.3933		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.428	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	21	0	G	NM_022068		10752835	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	30.77	18	8	SNP	1.000	T	T	10752835	G	T	10752835	2	4	58	1	0	0	0	0	0	0	0	1	5577	929	33	3		3	FAM38B	18	10752835	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1966820	10752835	67324413	1940	16323											
FAM38B	63895	genome.wustl.edu	37	chr18	10759835	10759835	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatataagacagcgatcaGccagcaggcgtggatcatgg	12	8	12	9	2	3	1	2	0	1	1	3	3	3	2	1	3	3	1	1	3	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:10759835G>A	ENST00000503781.3	-	23	3447	c.3448C>T	c.(3448-3450)Ctg>Ttg	p.L1150L	PIEZO2_ENST00000580640.1_Silent_p.L1175L|PIEZO2_ENST00000383408.2_Silent_p.L438L|PIEZO2_ENST00000302079.6_Silent_p.L1150L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1150					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										ACAGCGATCAGCCAGCAGGCG	0.463																																																	0													102	88	92					18																	10759835		692	1591	2283	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3448C>T	18.37:g.10759835G>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.L1164	ENST00000503781.3	37	c.3490		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.463	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	37	0	G	NM_022068		10759835	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	40.54	22	15	SNP	1.000	A	A	10759835	G	A	10759835	2	1	58	1	0	0	0	0	0	0	0	1	5577	962	34	3		3	FAM38B	18	10759835	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7000	10759835	67317413	1941	16324											
RNMT	8731	genome.wustl.edu	37	chr18	13740228	13740228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatgaaaaatcgtcgtGatagtgaatatattttcagt	15	13	9	4	2	1	3	1	3	0	0	3	4	1	4	0	1	0	0	0	1	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:13740228G>T	ENST00000383314.2	+	6	982	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	RNMT_ENST00000589866.1_Missense_Mutation_p.D248Y|RNMT_ENST00000592764.1_Missense_Mutation_p.D248Y|RNMT_ENST00000543302.2_Missense_Mutation_p.D248Y|RNMT_ENST00000535051.1_Missense_Mutation_p.D6Y|RNMT_ENST00000262173.3_Missense_Mutation_p.D248Y			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	248	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AAATCGTCGTGATAGTGAATA	0.363																																					GBM(29;474 594 19092 36647 41529)												0													108	100	103					18																	13740228		2203	4300	6503	SO:0001583	missense	0			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.742G>T	18.37:g.13740228G>T	ENSP00000372804:p.Asp248Tyr		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.D248Y	ENST00000383314.2	37	c.742	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569740	0.28003	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.76	4.89	0.63831	.	0.497547	0.23404	N	0.048559	T	0.29914	0.0748	L	0.34521	1.04	0.25291	N	0.989354	B;B	0.18741	0.03;0.012	B;B	0.12156	0.006;0.007	T	0.20009	-1.0288	9	0.52906	T	0.07	-17.1319	6.7435	0.23449	0.0717:0.1194:0.6713:0.1376	.	248;248	O43148-2;O43148	.;MCES_HUMAN	Y	248;6;248;70;248	.	ENSP00000262173:D248Y	D	+	1	0	RNMT	13730228	0.342000	0.24809	1.000000	0.80357	0.860000	0.49131	1.188000	0.32102	1.441000	0.47550	-0.140000	0.14226	GAT	RNMT	-	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	ENSG00000101654		0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	-	0	34	0	G	NM_003799		13740228	1	tier1	-	no_errors	ENST00000262173	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.846	T	T	13740228	G	T	13740228	3	4	58	1	0	0	0	0	1	0	0	0	13551	1290	45	3	756	3	RNMT	18	13740228	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2980393	13740228	64337020	1942	16325											
RBBP8	5932	genome.wustl.edu	37	chr18	20596862	20596862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagaagaaaactgcttgGgcacacgtgtaaggaatgtg	14	7	15	5	1	0	2	0	0	0	2	0	5	0	4	0	3	2	3	0	3	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:20596862G>T	ENST00000399722.2	+	17	2780	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V	RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.G815V|RBBP8_ENST00000399725.2_Intron|RBBP8_ENST00000327155.5_Missense_Mutation_p.G810V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	810					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.G810V(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAACTGCTTGGGCACACGTGT	0.318								Homologous recombination																																									1	Substitution - Missense(1)	endometrium(1)											107	109	108					18																	20596862		2203	4300	6503	SO:0001583	missense	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2429G>T	18.37:g.20596862G>T	ENSP00000382628:p.Gly810Val		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.G810V	ENST00000399722.2	37	c.2429	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093801	0.76870	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.63096	-0.02;-0.02;-0.01	5.33	4.46	0.54185	.	0.110694	0.64402	D	0.000008	T	0.80783	0.4689	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84031	0.0359	10	0.87932	D	0	-7.3178	13.0342	0.58860	0.0777:0.0:0.9223:0.0	.	815;810	E7ETY1;Q99708	.;COM1_HUMAN	V	810;810;815	ENSP00000323050:G810V;ENSP00000382628:G810V;ENSP00000354024:G815V	ENSP00000323050:G810V	G	+	2	0	RBBP8	18850860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	1.253000	0.44018	0.637000	0.83480	GGG	RBBP8	-	pfam_DNA-repair_Sae2/CtIP	ENSG00000101773		0.318	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1		0	37	0	G	NM_203291		20596862	1			no_errors	ENST00000327155	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	20596862	G	T	20596862	3	4	58	1	0	0	0	0	1	0	0	0	13150	1232	43	3	2491	3	RBBP8	18	20596862	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6856634	20596862	57480386	1943	16326											
C18orf45	85019	genome.wustl.edu	37	chr18	20932195	20932195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggctgcacactgccctgGggccagaaggttttttagct	7	10	12	12	0	0	1	0	0	0	1	0	1	0	1	3	4	3	4	3	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:20932195G>T	ENST00000383233.3	-	13	782	c.730C>A	c.(730-732)Cca>Aca	p.P244T	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Missense_Mutation_p.P123T	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	244						integral component of membrane (GO:0016021)											CACTGCCCTGGGGCCAGAAGG	0.448																																																	0													100	98	98					18																	20932195		1851	4100	5951	SO:0001583	missense	0			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"chromosome 18 open reading frame 45"	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.730C>A	18.37:g.20932195G>T	ENSP00000372720:p.Pro244Thr		I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	NULL	p.P244T	ENST00000383233.3	37	c.730	CCDS11876.2	18	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317479	0.23908	.	.	ENSG00000134490	ENST00000450466;ENST00000383233	T;T	0.69806	0.78;-0.43	5.48	4.58	0.56647	.	0.513127	0.14003	U	0.347965	T	0.52191	0.1719	L	0.27053	0.805	0.80722	D	1	B	0.33583	0.418	B	0.27796	0.083	T	0.57335	-0.7829	10	0.66056	D	0.02	-19.0497	12.4526	0.55684	0.0:0.1669:0.8331:0.0	.	244	Q24JQ0	CR045_HUMAN	T	123;244	ENSP00000414899:P123T;ENSP00000372720:P244T	ENSP00000372720:P244T	P	-	1	0	C18orf45	19186193	1.000000	0.71417	0.995000	0.50966	0.093000	0.18481	2.835000	0.48175	2.575000	0.86900	0.655000	0.94253	CCA	TMEM241	-	NULL	ENSG00000134490		0.448	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM241	HGNC	protein_coding	OTTHUMT00000254702.3	-	0	61	0	G	NM_032933		20932195	-1	tier1	-	no_errors	ENST00000383233	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.998	T	T	20932195	G	T	20932195	3	4	58	1	0	0	0	0	1	0	0	0	1910	1232	43	3	172	3	C18orf45	18	20932195	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	335333	20932195	57145053	1944	16327											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21761133	21761133	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttccacaggatcagaGagtgaactggccttgtggat	10	11	11	9	0	1	2	1	1	0	1	3	5	3	4	3	3	1	0	3	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:21761133G>T	ENST00000319481.3	-	19	1994	c.1788C>A	c.(1786-1788)ctC>ctA	p.L596L	OSBPL1A_ENST00000399443.3_Silent_p.L83L|OSBPL1A_ENST00000357041.4_Silent_p.L214L	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	596					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.L596L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CAGGATCAGAGAGTGAACTGG	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)											110	85	94					18																	21761133		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1788C>A	18.37:g.21761133G>T			B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.L596	ENST00000319481.3	37	c.1788	CCDS11884.1	18																																																																																			OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.483	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	-	0	39	0	G	NM_080597		21761133	-1	tier1	-	no_errors	ENST00000319481	ensembl	human	known	74_37	silent	14.63	35	6	SNP	0.000	T	T	21761133	G	T	21761133	2	4	58	1	0	0	0	0	0	0	0	1	11316	929	33	3		3	OSBPL1A	18	21761133	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	828938	21761133	56316115	1945	16328											
HRH4	59340	genome.wustl.edu	37	chr18	22057444	22057444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatccattgtgtcacaagcGctttcaaaaggctttcttga	10	14	8	9	1	3	1	2	1	1	0	4	1	4	1	1	1	1	3	1	1	4	5	rs149820026		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:22057444G>A	ENST00000256906.4	+	3	1191	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	HRH4_ENST00000426880.2_Missense_Mutation_p.R276H	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	364					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TGTCACAAGCGCTTTCAAAAG	0.368																																																	0								G	HIS/ARG,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	118	123	121		827,,1091	-0.8	0.7	18	dbSNP_134	121	0,8600		0,0,4300	no	missense,utr-3,missense	HRH4	NM_001143828.1,NM_001160166.1,NM_021624.3	29,,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign	276/303,,364/391	22057444	1,13005	2203	4300	6503	SO:0001583	missense	0			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"GPCR / Class A : Histamine receptors"	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.1091G>A	18.37:g.22057444G>A	ENSP00000256906:p.Arg364His		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn	p.R364H	ENST00000256906.4	37	c.1091	CCDS11887.1	18	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207936	0.39003	2.27E-4	0.0	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.37915	1.17;1.17	6.02	-0.793	0.10922	.	0.281498	0.31092	N	0.008279	T	0.23370	0.0565	L	0.28192	0.835	0.24115	N	0.995826	B;B	0.17465	0.022;0.016	B;B	0.11329	0.003;0.006	T	0.20840	-1.0263	10	0.52906	T	0.07	-1.1042	11.8185	0.52224	0.5068:0.0:0.4932:0.0	.	276;364	B2KJ48;Q9H3N8	.;HRH4_HUMAN	H	364;276	ENSP00000256906:R364H;ENSP00000402526:R276H	ENSP00000256906:R364H	R	+	2	0	HRH4	20311442	0.002000	0.14202	0.672000	0.29872	0.794000	0.44872	0.781000	0.26774	-0.196000	0.10366	-0.142000	0.14014	CGC	HRH4	-	prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn	ENSG00000134489		0.368	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	-	0	58	0	G			22057444	1	tier1	rs149820026	no_errors	ENST00000256906	ensembl	human	known	74_37	missense	37.29	37	22	SNP	0.374	A	A	22057444	G	A	22057444	3	1	58	1	0	0	0	0	1	0	0	0	7385	1087	38	1	1101	1	HRH4	18	22057444	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	296311	22057444	56019804	1946	16329											
ZNF521	25925	genome.wustl.edu	37	chr18	22805739	22805739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagacaaaggtgtgcatgtCcagcaggtgtttctgaaggt	11	10	14	6	0	1	2	0	1	1	1	2	3	2	2	1	3	2	3	1	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:22805739C>T	ENST00000361524.3	-	4	2291	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	ZNF521_ENST00000538137.2_Missense_Mutation_p.D715N|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.D495N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	715					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTGCATGTCCAGCAGGTGT	0.448			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													110	108	109					18																	22805739		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2143G>A	18.37:g.22805739C>T	ENSP00000354794:p.Asp715Asn		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D715N	ENST00000361524.3	37	c.2143	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221239	0.39201	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.75154	-0.91;-0.91	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	L	0.27053	0.805	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.76713	-0.2858	10	0.32370	T	0.25	-39.1364	20.8794	0.99867	0.0:1.0:0.0:0.0	.	715	Q96K83	ZN521_HUMAN	N	715;749;715	ENSP00000354794:D715N;ENSP00000382352:D715N	ENSP00000354794:D715N	D	-	1	0	ZNF521	21059737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.448	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	57	0	C	NM_015461		22805739	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	T	T	22805739	C	T	22805739	3	4	58	1	0	0	0	0	1	0	0	0	18013	855	30	3	1812	3	ZNF521	18	22805739	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	748295	22805739	55271509	1947	16330											
DSC1	1823	genome.wustl.edu	37	chr18	28711575	28711575	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttcgccaagccgaggttgGgtgaaactctgccagtccgt	8	9	12	12	3	1	1	0	1	1	0	3	2	2	1	4	2	3	1	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:28711575G>T	ENST00000257198.5	-	15	2730	c.2469C>A	c.(2467-2469)acC>acA	p.T823T	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.T823T	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	823					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCCGAGGTTGGGTGAAACTCT	0.463																																																	0													145	117	127					18																	28711575		2203	4300	6503	SO:0001819	synonymous_variant	0			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2469C>A	18.37:g.28711575G>T			Q9HB01	Silent	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin	p.T823	ENST00000257198.5	37	c.2469	CCDS11894.1	18																																																																																			DSC1	-	pfam_Cadherin_cytoplasmic-dom,prints_Cadherin/Desmocollin	ENSG00000134765		0.463	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC1	HGNC	protein_coding	OTTHUMT00000254946.1	-	0	94	0	G	NM_004948, NM_024421		28711575	-1	tier1	-	no_errors	ENST00000257198	ensembl	human	known	74_37	silent	41.35	61	43	SNP	0.970	T	T	28711575	G	T	28711575	2	4	58	1	0	0	0	0	0	0	0	1	4779	1219	43	3		3	DSC1	18	28711575	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5905836	28711575	49365673	1948	16331											
DSG4	147409	genome.wustl.edu	37	chr18	28993367	28993367	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggtgtgcctgacatgAgcaatagtagcacgactgag	10	9	13	9	1	0	3	0	3	0	0	1	4	1	3	2	1	3	3	2	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:28993367A>C	ENST00000308128.4	+	16	3067	c.2932A>C	c.(2932-2934)Agc>Cgc	p.S978R	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S997R|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	978					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCTGACATGAGCAATAGTAG	0.438																																																	0													176	162	166					18																	28993367		2203	4300	6503	SO:0001583	missense	0			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2932A>C	18.37:g.28993367A>C	ENSP00000311859:p.Ser978Arg		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.S997R	ENST00000308128.4	37	c.2989	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	A	8.380	0.837214	0.16891	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.63580	0.08;-0.05	5.56	3.17	0.36434	.	0.808495	0.10444	N	0.673877	T	0.46288	0.1385	N	0.17800	0.525	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.15870	0.014;0.005	T	0.38672	-0.9650	10	0.59425	D	0.04	.	7.5413	0.27740	0.7477:0.0:0.2523:0.0	.	997;978	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	R	978;997	ENSP00000311859:S978R;ENSP00000352785:S997R	ENSP00000311859:S978R	S	+	1	0	DSG4	27247365	0.087000	0.21565	0.005000	0.12908	0.767000	0.43475	1.750000	0.38329	0.395000	0.25257	0.482000	0.46254	AGC	DSG4	-	NULL	ENSG00000175065		0.438	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	-	0	71	0	A	NM_177986		28993367	1	tier1	-	no_errors	ENST00000359747	ensembl	human	known	74_37	missense	39.29	51	33	SNP	0.004	C	C	28993367	A	C	28993367	3	2	58	1	0	0	0	0	1	0	0	0	4793	304	11	4	3115	4	DSG4	18	28993367	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	281792	28993367	49083881	1949	16332											
SLC39A6	25800	genome.wustl.edu	37	chr18	33706271	33706271	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcctaccagccagccGgctcacccggctctttgatg	5	12	9	15	2	2	1	1	1	1	0	3	1	3	1	5	2	3	3	5	2	1	4	rs369018375		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:33706271G>T	ENST00000590986.1	-	2	989	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	SLC39A6_ENST00000269187.5_Silent_p.R234R|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	234					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CCAGCCAGCCGGCTCACCCGG	0.468																																																	0													140	136	137					18																	33706271		1865	4082	5947	SO:0001819	synonymous_variant	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.700C>A	18.37:g.33706271G>T			B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	pfam_ZIP	p.R234	ENST00000590986.1	37	c.700	CCDS42428.1	18																																																																																			SLC39A6	-	NULL	ENSG00000141424		0.468	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	-	0	71	0	G			33706271	-1	tier1	-	no_errors	ENST00000269187	ensembl	human	known	74_37	silent	5.68	83	5	SNP	0.000	T	T	33706271	G	T	33706271	2	4	58	1	0	0	0	0	0	0	0	1	14667	1115	39	2		2	SLC39A6	18	33706271	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	4712904	33706271	44370977	1950	16333											
ELP2	55250	genome.wustl.edu	37	chr18	33725927	33725927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatggtgtcctacagcaGccagtgagattattatctgc	10	13	10	8	0	1	2	0	1	1	2	2	3	2	2	2	1	4	1	2	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:33725927G>T	ENST00000358232.6	+	10	972	c.909G>T	c.(907-909)caG>caT	p.Q303H	ELP2_ENST00000542824.1_Missense_Mutation_p.Q277H|ELP2_ENST00000351393.6_Missense_Mutation_p.Q277H|ELP2_ENST00000350494.6_Missense_Mutation_p.Q342H|ELP2_ENST00000442325.2_Missense_Mutation_p.Q368H|ELP2_ENST00000423854.2_Missense_Mutation_p.Q233H	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	303					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TCCTACAGCAGCCAGTGAGAT	0.383																																																	0													163	176	172					18																	33725927		2203	4300	6503	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"Elongator acetyltransferase complex subunits", "WD repeat domain containing"	18248	protein-coding gene	gene with protein product			"signal transducer and activator of transcription 3 interacting protein 1", "elongation protein 2 homolog (S. cerevisiae)"	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.909G>T	18.37:g.33725927G>T	ENSP00000350967:p.Gln303His		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q303H	ENST00000358232.6	37	c.909	CCDS11918.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.30|13.30	2.196630|2.196630	0.38806|0.38806	.|.	.|.	ENSG00000134759|ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824|ENST00000535093	T;T;T;T;T;T|.	0.62498|.	0.09;0.22;1.05;0.76;0.02;0.27|.	5.37|5.37	1.55|1.55	0.23275|0.23275	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);|.	0.052332|.	0.85682|.	N|.	0.000000|.	T|T	0.34279|0.34279	0.0892|0.0892	N|N	0.17082|0.17082	0.46|0.46	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B;B;B;B|.	0.31054|.	0.306;0.105;0.116;0.048;0.048;0.148|.	B;B;B;B;B;B|.	0.41202|.	0.35;0.25;0.199;0.082;0.152;0.199|.	T|T	0.04165|0.04165	-1.0972|-1.0972	10|5	0.42905|.	T|.	0.14|.	-3.2395|-3.2395	5.8516|5.8516	0.18696|0.18696	0.2074:0.0:0.6513:0.1413|0.2074:0.0:0.6513:0.1413	.|.	342;368;233;277;277;303|.	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86|.	.;.;.;.;.;ELP2_HUMAN|.	H|I	303;277;368;233;342;277|124	ENSP00000350967:Q303H;ENSP00000257191:Q277H;ENSP00000414851:Q368H;ENSP00000391202:Q233H;ENSP00000316051:Q342H;ENSP00000443800:Q277H|.	ENSP00000316051:Q342H|.	Q|S	+|+	3|2	2|0	ELP2|ELP2	31979925|31979925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.882000|0.882000	0.50991|0.50991	1.955000|1.955000	0.40372|0.40372	0.003000|0.003000	0.14656|0.14656	0.305000|0.305000	0.20034|0.20034	CAG|AGC	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.383	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	-	0	37	0	G	NM_018255		33725927	1	tier1	-	no_errors	ENST00000358232	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T	T	33725927	G	T	33725927	3	4	58	1	0	0	0	0	1	0	0	0	5096	962	34	3	947	3	ELP2	18	33725927	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	19656	33725927	44351321	1951	16334											
FHOD3	80206	genome.wustl.edu	37	chr18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-																															gcgatgagaccacggagccaCcccccagtgggtgccgggac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:34205516delC	ENST00000359247.4	+	10	1000	c.1000delC	c.(1000-1002)cccfs	p.P335fs	FHOD3_ENST00000445677.1_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000591635.1_Frame_Shift_Del_p.H8fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	335	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.S336fs*138(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677																																																	1	Deletion - Frameshift(1)	large_intestine(1)											40	44	43					18																	34205516		2203	4299	6502	SO:0001589	frameshift_variant	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1000delC	18.37:g.34205516delC	ENSP00000352186:p.Pro335fs		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.S336fs	ENST00000359247.4	37	c.1000		18																																																																																			FHOD3	-	superfamily_ARM-type_fold	ENSG00000134775		0.677	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1		0	81	0	C	XM_371114		34205516	1	tier1		no_errors	ENST00000257209	ensembl	human	known	74_37	frame_shift_del	37.31	42	25	DEL	0.999	-	-	34205516	C	-	34205516	7	5	58	1	0	1	0	1	0	0	0	0	5905	507	18	0	1038	0	FHOD3	18	34205516	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	479589	34205516	43871732	1952	16335											
KIAA1632	57724	genome.wustl.edu	37	chr18	43532399	43532399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattgctgaagatctcaGaacagctgaactactgagca	14	9	10	8	0	1	6	1	4	1	2	2	6	1	6	0	0	6	3	0	0	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:43532399G>T	ENST00000282041.5	-	3	1253	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	407					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.L407L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAAGATCTCAGAACAGCTGAA	0.438																																																	1	Substitution - coding silent(1)	lung(1)											111	105	106					18																	43532399		1922	4138	6060	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1219C>A	18.37:g.43532399G>T	ENSP00000282041:p.Leu407Met		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.L407M	ENST00000282041.5	37	c.1219	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858701	0.17178	.	.	ENSG00000152223	ENST00000282041	D	0.81579	-1.51	5.38	4.51	0.55191	.	0.520138	0.21089	N	0.080353	T	0.82250	0.4996	L	0.50333	1.59	0.32731	N	0.508943	D;D	0.53885	0.963;0.963	P;P	0.53809	0.735;0.735	D	0.84177	0.0437	10	0.29301	T	0.29	-9.931	14.3698	0.66830	0.0714:0.0:0.9286:0.0	.	407;407	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	M	407	ENSP00000282041:L407M	ENSP00000282041:L407M	L	-	1	2	EPG5	41786397	1.000000	0.71417	0.997000	0.53966	0.167000	0.22549	4.708000	0.61859	1.418000	0.47098	-0.251000	0.11542	CTG	EPG5	-	NULL	ENSG00000152223		0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0	40	0	G	NM_020964		43532399	-1	tier1	-	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.972	T	T	43532399	G	T	43532399	3	4	58	1	0	0	0	0	1	0	0	0	8276	933	33	3	6688	3	KIAA1632	18	43532399	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	9326883	43532399	34544849	1953	16336											
TXNL1	9352	genome.wustl.edu	37	chr18	54278226	54278226	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatttaagcaaacttactcGtttgaagtcattcatatttg	12	17	5	7	1	3	1	3	1	0	0	4	1	3	1	0	0	3	2	0	0	5	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:54278226G>A	ENST00000217515.6	-	7	1042	c.838C>T	c.(838-840)Cga>Tga	p.R280*	TXNL1_ENST00000540155.1_Nonsense_Mutation_p.R157*|TXNL1_ENST00000590954.1_Nonsense_Mutation_p.R280*	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	280	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AAACTTACTCGTTTGAAGTCA	0.294																																																	0													92	88	90					18																	54278226		2202	4298	6500	SO:0001587	stop_gained	0			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"thioredoxin-like, 32kD"	603049	"thioredoxin-like, 32kDa"	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.838C>T	18.37:g.54278226G>A	ENSP00000217515:p.Arg280*			Nonsense_Mutation	SNP	pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold	p.R280*	ENST00000217515.6	37	c.838	CCDS11961.1	18	.	.	.	.	.	.	.	.	.	.	G	48	14.010560	0.99775	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	.	.	.	5.78	3.85	0.44370	.	0.358491	0.28964	N	0.013575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2089	0.59813	0.0:0.0:0.5916:0.4084	.	.	.	.	X	280;157	.	ENSP00000217515:R280X	R	-	1	2	TXNL1	52429224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.908000	0.48750	1.419000	0.47118	0.655000	0.94253	CGA	TXNL1	-	NULL	ENSG00000091164		0.294	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL1	HGNC	protein_coding	OTTHUMT00000256064.2	-	0	32	0	G			54278226	-1	tier1	-	no_errors	ENST00000217515	ensembl	human	known	74_37	nonsense	39.39	20	13	SNP	1.000	A	A	54278226	G	A	54278226	4	1	58	1	0	0	0	0	0	1	0	0	16853	1153	40	1	39	1	TXNL1	18	54278226	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	10745827	54278226	23799022	1954	16337											
WDR7	23335	genome.wustl.edu	37	chr18	54363659	54363659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgttcatggtggtgagaTtactcaacttctagttccac	8	15	9	9	0	3	1	2	1	1	1	4	2	4	1	1	2	2	2	1	2	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:54363659T>C	ENST00000254442.3	+	12	1755	c.1544T>C	c.(1543-1545)aTt>aCt	p.I515T	WDR7_ENST00000357574.3_Missense_Mutation_p.I515T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	515					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGTGGTGAGATTACTCAACTT	0.338																																																	0													125	120	122					18																	54363659		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1544T>C	18.37:g.54363659T>C	ENSP00000254442:p.Ile515Thr		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I515T	ENST00000254442.3	37	c.1544	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476091	0.84640	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.07114	3.22;3.22	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.77103	2.36	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.72338	0.921;0.977	T	0.02037	-1.1225	10	0.87932	D	0	.	16.2196	0.82251	0.0:0.0:0.0:1.0	.	515;515	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	T	515	ENSP00000254442:I515T;ENSP00000350187:I515T	ENSP00000254442:I515T	I	+	2	0	WDR7	52514657	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.917000	0.87498	2.308000	0.77769	0.533000	0.62120	ATT	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000091157		0.338	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0	71	0	T			54363659	1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	40.26	46	31	SNP	1.000	C	C	54363659	T	C	54363659	3	2	58	1	0	0	0	0	1	0	0	0	17369	1493	52	4	1586	4	WDR7	18	54363659	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	85433	54363659	23713589	1955	16338											
WDR7	23335	genome.wustl.edu	37	chr18	54423951	54423951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgactgaagaagcctctagGccgaatactgctcttatttc	10	12	8	11	1	2	3	0	2	2	1	3	4	2	3	2	1	3	1	2	1	6	4	rs377518472		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:54423951G>T	ENST00000254442.3	+	15	2338	c.2127G>T	c.(2125-2127)agG>agT	p.R709S	WDR7_ENST00000357574.3_Missense_Mutation_p.R709S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	709					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAGCCTCTAGGCCGAATACTG	0.428																																																	0													76	80	79					18																	54423951		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2127G>T	18.37:g.54423951G>T	ENSP00000254442:p.Arg709Ser		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R709S	ENST00000254442.3	37	c.2127	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636995	0.29157	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.64803	-0.12;-0.11	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	N	0.08118	0	0.53005	D	0.999966	P;D	0.57899	0.919;0.981	P;D	0.69824	0.514;0.966	T	0.56366	-0.7991	10	0.15952	T	0.53	.	14.5563	0.68103	0.0715:0.0:0.9285:0.0	.	709;709	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	709	ENSP00000254442:R709S;ENSP00000350187:R709S	ENSP00000254442:R709S	R	+	3	2	WDR7	52574949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.853000	0.39358	2.826000	0.97356	0.655000	0.94253	AGG	WDR7	-	NULL	ENSG00000091157		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0	52	0	G			54423951	1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	54423951	G	T	54423951	3	4	58	1	0	0	0	0	1	0	0	0	17369	1194	42	3	2181	3	WDR7	18	54423951	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	60292	54423951	23653297	1956	16339											
ONECUT2	9480	genome.wustl.edu	37	chr18	55103827	55103827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatgatgtcgcacctgaaCggcctgcaccacccgggcca	8	5	11	17	3	0	2	0	2	0	0	1	2	0	2	6	2	2	2	6	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:55103827C>T	ENST00000491143.2	+	1	911	c.879C>T	c.(877-879)aaC>aaT	p.N293N	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	293					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCACCTGAACGGCCTGCACC	0.701																																																	0													32	39	37					18																	55103827		2116	4217	6333	SO:0001819	synonymous_variant	0			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"Homeoboxes / CUT class"	8139	protein-coding gene	gene with protein product		604894	"one cut domain, family member 2"			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.879C>T	18.37:g.55103827C>T				Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.N293	ENST00000491143.2	37	c.879	CCDS42440.1	18																																																																																			ONECUT2	-	NULL	ENSG00000119547		0.701	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	-	0	34	0	C			55103827	1	tier1	-	no_errors	ENST00000491143	ensembl	human	known	74_37	silent	30.77	18	8	SNP	1.000	T	T	55103827	C	T	55103827	2	4	58	1	0	0	0	0	0	0	0	1	10908	535	19	1		1	ONECUT2	18	55103827	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	679876	55103827	22973421	1957	16340											
ALPK2	115701	genome.wustl.edu	37	chr18	56246390	56246390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggatttcccttcattcccgGctgcctcaccctggcagatt	5	12	9	15	1	2	1	2	0	0	1	4	2	4	2	4	3	1	2	4	3	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56246390G>A	ENST00000361673.3	-	4	1831	c.1618C>T	c.(1618-1620)Ccg>Tcg	p.P540S	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	540						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCATTCCCGGCTGCCTCACC	0.537											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													186	186	186					18																	56246390		2203	4300	6503	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1618C>T	18.37:g.56246390G>A	ENSP00000354991:p.Pro540Ser	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.P540S	ENST00000361673.3	37	c.1618	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995832	0.54147	.	.	ENSG00000198796	ENST00000361673	T	0.76316	-1.01	5.76	5.76	0.90799	.	1.364740	0.05289	N	0.520795	D	0.85500	0.5711	L	0.61218	1.895	0.09310	N	1	P	0.47191	0.891	P	0.49637	0.617	T	0.77752	-0.2470	10	0.87932	D	0	0.013	19.5764	0.95446	0.0:0.0:1.0:0.0	.	540	Q86TB3	ALPK2_HUMAN	S	540	ENSP00000354991:P540S	ENSP00000354991:P540S	P	-	1	0	ALPK2	54397370	0.042000	0.20092	0.006000	0.13384	0.003000	0.03518	2.143000	0.42187	2.726000	0.93360	0.655000	0.94253	CCG	ALPK2	-	NULL	ENSG00000198796		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0	33	0	G	NM_052947		56246390	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.058	A	A	56246390	G	A	56246390	3	1	58	1	0	0	0	0	1	0	0	0	545	1203	42	3	4934	3	ALPK2	18	56246390	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1142563	56246390	21830858	1958	16341											
ALPK2	115701	genome.wustl.edu	37	chr18	56247704	56247704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgagcactcaacctcaaCggaagcagaacaacagatca	17	5	8	11	1	3	4	3	2	0	2	3	5	3	5	1	1	6	2	1	1	5	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56247704C>T	ENST00000361673.3	-	4	517	c.304G>A	c.(304-306)Gtt>Att	p.V102I	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	102	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAACCTCAACGGAAGCAGAA	0.423																																																	0													180	164	169					18																	56247704		1931	4133	6064	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.304G>A	18.37:g.56247704C>T	ENSP00000354991:p.Val102Ile		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.V102I	ENST00000361673.3	37	c.304	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	C	1.780	-0.482269	0.04383	.	.	ENSG00000198796	ENST00000361673	T	0.33438	1.41	5.92	-7.33	0.01431	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13114	0.0318	N	0.17838	0.53	0.09310	N	1	B	0.20052	0.041	B	0.13407	0.009	T	0.41998	-0.9477	9	0.02654	T	1	0.0673	10.4274	0.44387	0.0:0.4164:0.4139:0.1696	.	102	Q86TB3	ALPK2_HUMAN	I	102	ENSP00000354991:V102I	ENSP00000354991:V102I	V	-	1	0	ALPK2	54398684	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-3.497000	0.00451	-1.675000	0.01459	0.467000	0.42956	GTT	ALPK2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000198796		0.423	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0	66	0	C	NM_052947		56247704	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	36.05	55	31	SNP	0.000	T	T	56247704	C	T	56247704	3	4	58	1	0	0	0	0	1	0	0	0	545	536	19	1	6248	1	ALPK2	18	56247704	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1314	56247704	21829544	1959	16342											
ZNF532	55205	genome.wustl.edu	37	chr18	56646399	56646399	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaaagtgtacgcctgctCgtaagtcctggtttctaacg	9	11	11	10	3	1	0	0	0	1	0	3	1	2	1	2	2	3	4	2	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56646399C>T	ENST00000336078.4	+	9	4039	c.3263C>T	c.(3262-3264)tCg>tTg	p.S1088L	ZNF532_ENST00000591808.1_Splice_Site_p.S1088L|ZNF532_ENST00000591083.1_Splice_Site_p.S1088L|ZNF532_ENST00000589288.1_Splice_Site_p.S1088L|ZNF532_ENST00000591230.1_Splice_Site_p.S1088L|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1088					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TACGCCTGCTCGTAAGTCCTG	0.532																																																	0													85	82	83					18																	56646399		2203	4300	6503	SO:0001630	splice_region_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3263+1C>T	18.37:g.56646399C>T			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1088L	ENST00000336078.4	37	c.3263	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998243	0.35226	.	.	ENSG00000074657	ENST00000336078	T	0.16457	2.34	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);	0.188482	0.47852	D	0.000210	T	0.18045	0.0433	L	0.58354	1.805	0.36887	D	0.889704	B	0.10296	0.003	B	0.04013	0.001	T	0.06826	-1.0805	10	0.27785	T	0.31	-8.8267	11.8605	0.52463	0.0:0.9191:0.0:0.0809	.	1088	Q9HCE3	ZN532_HUMAN	L	1088	ENSP00000338217:S1088L	ENSP00000338217:S1088L	S	+	2	0	ZNF532	54797379	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.997000	0.57016	2.441000	0.82636	0.557000	0.71058	TCG	ZNF532	-	smart_Znf_C2H2-like	ENSG00000074657		0.532	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0	10	0	C	NM_018181	Missense_Mutation	56646399	1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T	T	56646399	C	T	56646399	5	4	58	1	0	0	0	0	0	0	1	0	18020	898	31	1	3285	1	ZNF532	18	56646399	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	398695	56646399	21430849	1960	16343											
CPLX4	339302	genome.wustl.edu	37	chr18	56963955	56963955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacggaacacttctgctccGctgtctgcttgatttcagtg	6	14	9	12	2	4	1	2	1	2	0	5	2	5	2	1	1	3	3	1	1	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56963955G>A	ENST00000299721.3	-	3	644	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	153					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.A153V(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTCTGCTCCGCTGTCTGCTT	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											91	84	87					18																	56963955		2203	4300	6503	SO:0001583	missense	0			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.458C>T	18.37:g.56963955G>A	ENSP00000299721:p.Ala153Val		F1T0L6	Missense_Mutation	SNP	pfam_Synaphin	p.A153V	ENST00000299721.3	37	c.458	CCDS11973.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.349439	0.95830	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81331	-0.0981	9	0.72032	D	0.01	-9.7614	19.3422	0.94347	0.0:0.0:1.0:0.0	.	153	Q7Z7G2	CPLX4_HUMAN	V	153	.	ENSP00000299721:A153V	A	-	2	0	CPLX4	55114935	1.000000	0.71417	0.205000	0.23548	0.994000	0.84299	9.393000	0.97256	2.653000	0.90120	0.561000	0.74099	GCG	CPLX4	-	NULL	ENSG00000166569		0.498	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX4	HGNC	protein_coding	OTTHUMT00000256127.1	-	0	65	0	G	NM_181654		56963955	-1	tier1	-	no_errors	ENST00000299721	ensembl	human	known	74_37	missense	34.43	40	21	SNP	1.000	A	A	56963955	G	A	56963955	3	1	58	1	0	0	0	0	1	0	0	0	3814	1087	38	1	28	1	CPLX4	18	56963955	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	317556	56963955	21113293	1961	16344											
LMAN1	3998	genome.wustl.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-																															tttctttatctggtgtgggcTtttttttggagttttggaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294																																																	0													75	83	80					18																	57013285		2202	4298	6500	SO:0001630	splice_region_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.823-2A>-	18.37:g.57013285delT			Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	DEL	-	e8-2	ENST00000251047.5	37	c.823-2	CCDS11974.1	18																																																																																			LMAN1	-	-	ENSG00000074695		0.294	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0	31	0	T	NM_005570	Intron	57013285	-1	tier1		no_errors	ENST00000251047	ensembl	human	known	74_37	splice_site_del	33.33	24	12	DEL	1.000	-	-	57013285	T	-	57013285	8	5	58	1	0	1	0	1	0	0	1	0	8866	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	49330	57013285	21063963	1962	16345											
CDH20	28316	genome.wustl.edu	37	chr18	59166500	59166500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcatcgtgtttaccatcGacgacaccactggagacatc	10	9	9	13	3	0	1	0	0	0	1	3	4	0	1	2	2	1	2	2	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:59166500G>A	ENST00000262717.4	+	3	726	c.328G>A	c.(328-330)Gac>Aac	p.D110N	CDH20_ENST00000536675.2_Missense_Mutation_p.D110N|CDH20_ENST00000538374.1_Missense_Mutation_p.D110N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTTTACCATCGACGACACCAC	0.552																																																	0													85	66	73					18																	59166500		2203	4300	6503	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.328G>A	18.37:g.59166500G>A	ENSP00000262717:p.Asp110Asn		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D110N	ENST00000262717.4	37	c.328	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793652	0.90453	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.62788	-0.0;-0.0;-0.0	5.82	5.82	0.92795	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67964	-0.5534	10	0.30078	T	0.28	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	110	Q9HBT6	CAD20_HUMAN	N	110	ENSP00000444767:D110N;ENSP00000442226:D110N;ENSP00000262717:D110N	ENSP00000262717:D110N	D	+	1	0	CDH20	57317480	1.000000	0.71417	0.835000	0.33067	0.904000	0.53231	9.476000	0.97823	2.758000	0.94735	0.650000	0.86243	GAC	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.552	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	-	0	51	0	G	NM_031891		59166500	1	tier1	-	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	38.78	30	19	SNP	1.000	A	A	59166500	G	A	59166500	3	1	58	1	0	0	0	0	1	0	0	0	3113	1058	37	1	334	1	CDH20	18	59166500	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2153215	59166500	18910748	1963	16346											
PHLPP1	23239	genome.wustl.edu	37	chr18	60645905	60645905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccctcagatgggctgggCgtgccgtcctccagcagcgg	4	6	16	15	4	1	1	1	0	0	1	3	1	3	1	4	4	3	2	4	4	0	0	rs377385853	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:60645905C>T	ENST00000262719.5	+	17	4629	c.4395C>T	c.(4393-4395)ggC>ggT	p.G1465G	PHLPP1_ENST00000400316.4_Silent_p.G953G			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1465					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ATGGGCTGGGCGTGCCGTCCT	0.632													C|||	2	0.000399361	0.0015	0	5008	,	,		21137	0		0	False		,,,				2504	0																0								C		2,4196		0,2,2097	35	37	36		4395	-2.5	1	18		36	0,8450		0,0,4225	no	coding-synonymous	PHLPP1	NM_194449.2		0,2,6322	TT,TC,CC		0.0,0.0476,0.0158		1465/1718	60645905	2,12646	2099	4225	6324	SO:0001819	synonymous_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4395C>T	18.37:g.60645905C>T			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.G1465	ENST00000262719.5	37	c.4395	CCDS45881.2	18																																																																																			PHLPP1	-	NULL	ENSG00000081913		0.632	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	-	0	50	0	C	NM_194449		60645905	1	tier1	-	no_errors	ENST00000262719	ensembl	human	known	74_37	silent	41.67	21	15	SNP	0.708	T	T	60645905	C	T	60645905	2	4	58	1	0	0	0	0	0	0	0	1	11893	755	27	1		1	PHLPP1	18	60645905	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1479405	60645905	17431343	1964	16347											
SERPINB2	5055	genome.wustl.edu	37	chr18	61565041	61565041	+	Frame_Shift_Del	DEL	A	A	-																															gaatgtgcagaagaagctagAaaaaagattaattcctgggt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:61565041delA	ENST00000299502.4	+	5	578	c.498delA	c.(496-498)agafs	p.R166fs	SERPINB2_ENST00000457692.1_Frame_Shift_Del_p.R166fs|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	166					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	AAGAAGCTAGAAAAAAGATTA	0.343																																																	0													56	59	58					18																	61565041		2203	4300	6503	SO:0001589	frameshift_variant	0			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"Serine (or cysteine) peptidase inhibitors"	8584	protein-coding gene	gene with protein product		173390	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.498delA	18.37:g.61565041delA	ENSP00000299502:p.Arg166fs		Q96E96	Frame_Shift_Del	DEL	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K168fs	ENST00000299502.4	37	c.498	CCDS11989.1	18																																																																																			SERPINB2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197632		0.343	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB2	HGNC	protein_coding	OTTHUMT00000134009.1		0	54	0	A	NM_002575		61565041	1	tier1		no_errors	ENST00000299502	ensembl	human	known	74_37	frame_shift_del	29.82	40	17	DEL	0.999	-	-	61565041	A	-	61565041	7	5	58	1	0	1	0	1	0	0	0	0	14146	243	9	0	512	0	SERPINB2	18	61565041	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	919136	61565041	16512207	1965	16348											
DOK6	220164	genome.wustl.edu	37	chr18	67345063	67345063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggagcccgaccttctggCcgcaggagtgcagcgggaac	7	5	17	12	3	1	0	0	0	1	0	1	4	1	3	3	5	4	2	3	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:67345063C>T	ENST00000382713.5	+	4	573	c.383C>T	c.(382-384)gCc>gTc	p.A128V	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	128										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GACCTTCTGGCCGCAGGAGTG	0.532																																																	0													79	72	75					18																	67345063		2203	4300	6503	SO:0001583	missense	0			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"Pleckstrin homology (PH) domain containing"	28301	protein-coding gene	gene with protein product		611402	"docking protein 5-like"	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.383C>T	18.37:g.67345063C>T	ENSP00000372160:p.Ala128Val		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.A128V	ENST00000382713.5	37	c.383	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240669	0.58995	.	.	ENSG00000206052	ENST00000382713	T	0.80653	-1.4	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.62723	1.935	0.80722	D	1	B	0.27971	0.196	B	0.27170	0.077	T	0.71951	-0.4437	10	0.17369	T	0.5	-6.7249	16.9217	0.86166	0.0:1.0:0.0:0.0	.	128	Q6PKX4	DOK6_HUMAN	V	128	ENSP00000372160:A128V	ENSP00000372160:A128V	A	+	2	0	DOK6	65496043	1.000000	0.71417	0.974000	0.42286	0.893000	0.52053	7.322000	0.79097	2.937000	0.99478	0.650000	0.86243	GCC	DOK6	-	NULL	ENSG00000206052		0.532	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	-	0	80	0	C	NM_152721		67345063	1	tier1	-	no_errors	ENST00000382713	ensembl	human	known	74_37	missense	40.86	54	38	SNP	1.000	T	T	67345063	C	T	67345063	3	4	58	1	0	0	0	0	1	0	0	0	4715	739	26	3	397	3	DOK6	18	67345063	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	5780022	67345063	10732185	1966	16349											
NETO1	81832	genome.wustl.edu	37	chr18	70532046	70532046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgtctccccttaccttCtatgatgtagatgcattccc	7	14	6	14	0	2	2	0	1	2	1	4	2	3	2	4	0	2	3	4	0	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:70532046C>T	ENST00000327305.6	-	3	874	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NETO1_ENST00000299430.2_Missense_Mutation_p.E72K|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.E72K|NETO1_ENST00000583169.1_Missense_Mutation_p.E73K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	73	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCCTTACCTTCTATGATGTAG	0.458																																																	0													108	99	102					18																	70532046		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.217G>A	18.37:g.70532046C>T	ENSP00000313088:p.Glu73Lys		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.E73K	ENST00000327305.6	37	c.217	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.498579	0.96355	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.17854	2.25;2.25;2.25	5.71	5.71	0.89125	CUB (5);	0.000000	0.64402	D	0.000008	T	0.42966	0.1226	M	0.62154	1.92	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.987;0.968	T	0.12116	-1.0560	10	0.72032	D	0.01	.	20.2216	0.98326	0.0:1.0:0.0:0.0	.	72;72;73	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	K	73;72;72	ENSP00000313088:E73K;ENSP00000299430:E72K;ENSP00000381024:E72K	ENSP00000299430:E72K	E	-	1	0	NETO1	68683026	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.860000	0.98153	0.655000	0.94253	GAA	NETO1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000166342		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0	100	0	C	NM_138999		70532046	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	38.55	51	32	SNP	1.000	T	T	70532046	C	T	70532046	3	4	58	1	0	0	0	0	1	0	0	0	10378	922	32	3	1425	3	NETO1	18	70532046	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3186983	70532046	7545202	1967	16350											
ZNF407	55628	genome.wustl.edu	37	chr18	72346707	72346707	+	Frame_Shift_Del	DEL	C	C	-																															ggagacggtggaggtgttgtCccccacagacacctgtgccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:72346707delC	ENST00000299687.5	+	1	3732	c.3732delC	c.(3730-3732)gtcfs	p.V1244fs	ZNF407_ENST00000309902.6_Frame_Shift_Del_p.V1244fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.V1244fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.V1244fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGTGTTGTCCCCCACAGAC	0.542																																																	0													52	60	57					18																	72346707		2054	4185	6239	SO:0001589	frameshift_variant	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3732delC	18.37:g.72346707delC	ENSP00000299687:p.Val1244fs		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.H1246fs	ENST00000299687.5	37	c.3732	CCDS45885.1	18																																																																																			ZNF407	-	NULL	ENSG00000215421		0.542	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1		0	25	0	C	NM_017757		72346707	1	tier1		no_errors	ENST00000299687	ensembl	human	known	74_37	frame_shift_del	30.30	23	10	DEL	0.000	-	-	72346707	C	-	72346707	7	5	58	1	0	1	0	1	0	0	0	0	17935	842	30	0	3734	0	ZNF407	18	72346707	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1814661	72346707	5730541	1968	16351											
GALR1	2587	genome.wustl.edu	37	chr18	74962958	74962958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggtgtcccgcaacGcgctgctgggcgtgggctgc	3	7	16	15	4	1	0	1	0	0	0	2	0	2	0	2	3	3	4	2	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:74962958G>A	ENST00000299727.3	+	1	454	c.454G>A	c.(454-456)Gcg>Acg	p.A152T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	152					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTCCCGCAACGCGCTGCTGGG	0.692																																																	0													52	46	48					18																	74962958		2203	4299	6502	SO:0001583	missense	0			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.454G>A	18.37:g.74962958G>A	ENSP00000299727:p.Ala152Thr		Q4VBL7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt	p.A152T	ENST00000299727.3	37	c.454	CCDS12012.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.223530	0.95139	.	.	ENSG00000166573	ENST00000299727	T	0.40756	1.02	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.67417	-0.5676	10	0.87932	D	0	.	16.7748	0.85548	0.0:0.0:1.0:0.0	.	152	P47211	GALR1_HUMAN	T	152	ENSP00000299727:A152T	ENSP00000299727:A152T	A	+	1	0	GALR1	73091946	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.555000	0.82223	2.044000	0.60594	0.591000	0.81541	GCG	GALR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt	ENSG00000166573		0.692	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR1	HGNC	protein_coding	OTTHUMT00000256362.1		0	26	0	G			74962958	1			no_errors	ENST00000299727	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A	A	74962958	G	A	74962958	3	1	58	1	0	0	0	0	1	0	0	0	6252	1087	38	1	456	1	GALR1	18	74962958	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2616251	74962958	3114290	1969	16352											
SALL3	27164	genome.wustl.edu	37	chr18	76753309	76753309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgctccagatccacctgCgctcgcacacaggcgagcgg	7	4	13	17	6	0	1	0	0	0	1	3	2	2	1	3	2	2	3	3	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:76753309C>T	ENST00000537592.2	+	2	1318	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	SALL3_ENST00000575389.2_Missense_Mutation_p.R440C|SALL3_ENST00000536229.3_Missense_Mutation_p.R307C	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	440					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GATCCACCTGCGCTCGCACAC	0.612																																																	0													27	22	24					18																	76753309		2202	4296	6498	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1318C>T	18.37:g.76753309C>T	ENSP00000441823:p.Arg440Cys		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R440C	ENST00000537592.2	37	c.1318	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359557	0.41801	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.25749	1.78	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000029	T	0.58764	0.2145	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69109	-0.5232	10	0.87932	D	0	-54.2458	17.489	0.87698	0.0:1.0:0.0:0.0	.	172;440	F5GXY4;Q9BXA9	.;SALL3_HUMAN	C	440;440;172	ENSP00000441823:R440C	ENSP00000299466:R440C	R	+	1	0	SALL3	74854297	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.588000	0.82629	2.352000	0.79861	0.460000	0.39030	CGC	SALL3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256463		0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	-	0	35	0	C	NM_171999		76753309	1	tier1	-	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	47.06	18	16	SNP	1.000	T	T	76753309	C	T	76753309	3	4	58	1	0	0	0	0	1	0	0	0	13857	768	27	1	1324	1	SALL3	18	76753309	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1790351	76753309	1323939	1970	16353											
CTDP1	9150	genome.wustl.edu	37	chr18	77496373	77496373	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggacgacatccttggaGaaggcagcgacgacagcgac	12	4	15	10	4	0	1	0	0	0	1	1	7	1	2	1	4	2	1	1	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:77496373G>T	ENST00000299543.7	+	12	2746	c.2599G>T	c.(2599-2601)Gaa>Taa	p.E867*	CTDP1_ENST00000075430.7_Missense_Mutation_p.E812D	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	867					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CATCCTTGGAGAAGGCAGCGA	0.667																																																	0													27	30	29					18																	77496373		1847	3514	5361	SO:0001587	stop_gained	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2599G>T	18.37:g.77496373G>T	ENSP00000299543:p.Glu867*		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Nonsense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.E867*	ENST00000299543.7	37	c.2599	CCDS12017.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.391285|8.391285	0.98791|0.98791	.|.	.|.	ENSG00000060069|ENSG00000060069	ENST00000075430|ENST00000299543	T|.	0.42900|.	0.96|.	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.73999|.	0.3659|.	.|.	.|.	.|.	0.40858|0.40858	D|D	0.983811|0.983811	P|.	0.44816|.	0.844|.	B|.	0.43445|.	0.42|.	T|.	0.78575|.	-0.2151|.	9|.	0.51188|0.59425	T|D	0.08|0.04	-23.4458|-23.4458	15.3841|15.3841	0.74684|0.74684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	812|.	Q9Y5B0-4|.	.|.	D|X	812|867	ENSP00000075430:E812D|.	ENSP00000075430:E812D|ENSP00000299543:E867X	E|E	+|+	3|1	2|0	CTDP1|CTDP1	75597361|75597361	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.560000|0.560000	0.35617|0.35617	4.189000|4.189000	0.58358|0.58358	1.908000|1.908000	0.55244|0.55244	0.557000|0.557000	0.71058|0.71058	GAG|GAA	CTDP1	-	pfam_FCP1_C	ENSG00000060069		0.667	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0	35	0	G	NM_004715		77496373	1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	nonsense	11.32	47	6	SNP	1.000	T	T	77496373	G	T	77496373	4	4	58	1	0	0	0	0	0	1	0	0	4011	943	33	3	2645	3	CTDP1	18	77496373	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	743064	77496373	580875	1971	16354											
MADCAM1	8174	genome.wustl.edu	37	chr19	498664	498666	+	In_Frame_Del	DEL	AGG	AGG	-																															agccctgggcccggaggtgcAggaggaggaggaggagcccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:498664_498666delAGG	ENST00000215637.3	+	3	552_554	c.506_508delAGG	c.(505-510)caggag>cag	p.E174del	MADCAM1_ENST00000346144.4_In_Frame_Del_p.E174del|MADCAM1_ENST00000382683.4_In_Frame_Del_p.E79del|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	174	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAGGTGCAGGAGGAGGAGGA	0.724																																																	0									,	138,3960		25,88,1936					,	-1.7	0			10	276,7738		43,190,3774	no	coding,coding	MADCAM1	NM_130762.2,NM_130760.2	,	68,278,5710	A1A1,A1R,RR		3.444,3.3675,3.4181	,	,		414,11698				SO:0001651	inframe_deletion	0			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6765	protein-coding gene	gene with protein product	"mucosal addressin cell adhesion molecule-1"	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.506_508delAGG	19.37:g.498673_498675delAGG	ENSP00000215637:p.Glu174del		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	In_Frame_Del	DEL	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom	p.E173in_frame_del	ENST00000215637.3	37	c.506_508	CCDS12028.1	19																																																																																			MADCAM1	-	pfam_Adhes-Ig-like	ENSG00000099866		0.724	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1		0	29	0	AGG	NM_130760		498666	1	tier1		no_errors	ENST00000215637	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	0.029:0.036:0.046	-	-	498666	AGG	-	498664	7	5	58	1	0	1	0	1	0	0	0	0	9187	188	7	0	516	0	MADCAM1	19	498664	In_Frame_Del	DEL	AGG	TCGA-L5-A4OI-01A-11D-A27G-09		498664	58630319	1972	16355											
HMHA1	23526	genome.wustl.edu	37	chr19	1080107	1080107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgagccccacgtctccGccaacgcctggtaccgccac	7	7	8	19	4	1	1	0	1	1	0	2	1	1	1	7	1	3	1	7	1	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1080107G>A	ENST00000313093.2	+	13	1924	c.1693G>A	c.(1693-1695)Gcc>Acc	p.A565T	HMHA1_ENST00000586866.1_Missense_Mutation_p.A569T|HMHA1_ENST00000536472.1_Missense_Mutation_p.A405T|HMHA1_ENST00000590577.1_Missense_Mutation_p.A200T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A581T|HMHA1_ENST00000590214.1_Missense_Mutation_p.A592T|HMHA1_ENST00000543365.1_Missense_Mutation_p.A448T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	565					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGTCTCCGCCAACGCCTG	0.672																																																	0													38	39	39					19																	1080107		2203	4300	6503	SO:0001583	missense	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1693G>A	19.37:g.1080107G>A	ENSP00000316772:p.Ala565Thr		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A565T	ENST00000313093.2	37	c.1693	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861463	0.17178	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.20881	2.08;2.07;2.1;2.04	3.97	-4.39	0.03611	.	1.344650	0.04792	N	0.431889	T	0.11153	0.0272	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B;B	0.16166	0.016;0.006;0.003;0.007;0.002	B;B;B;B;B	0.11329	0.006;0.003;0.002;0.004;0.001	T	0.31971	-0.9924	10	0.12430	T	0.62	-4.5653	5.8431	0.18645	0.5186:0.2546:0.2268:0.0	.	405;581;200;448;565	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	T	581;565;565;405;559;448	ENSP00000439601:A581T;ENSP00000316772:A565T;ENSP00000445109:A405T;ENSP00000438979:A448T	ENSP00000316772:A565T	A	+	1	0	HMHA1	1031107	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.085000	0.11250	-0.493000	0.06678	-0.258000	0.10820	GCC	HMHA1	-	NULL	ENSG00000180448		0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	-	0	52	0	G			1080107	1	tier1	-	no_errors	ENST00000313093	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.000	A	A	1080107	G	A	1080107	3	1	58	1	0	0	0	0	1	0	0	0	7267	1087	38	1	1743	1	HMHA1	19	1080107	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	581443	1080107	58048876	1973	16356											
ATP8B3	148229	genome.wustl.edu	37	chr19	1788961	1788963	+	In_Frame_Del	DEL	AGA	AGA	-																															catgctggccatgctcttgtAgaagaagtagcgcaggaact																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1788961_1788963delAGA	ENST00000310127.6	-	24	3240_3242	c.3002_3004delTCT	c.(3001-3006)ttctac>tac	p.F1001del	ATP8B3_ENST00000525591.1_In_Frame_Del_p.F964del|ATP8B3_ENST00000539485.1_In_Frame_Del_p.F1011del	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1001					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCTCTTGTAGAAGAAGTAGCG	0.631																																																	0									,	28,4198		14,0,2099					,	4.9	1			48	64,8140		28,8,4066	no	coding,coding	ATP8B3	NM_138813.2,NM_001178002.1	,	42,8,6165	A1A1,A1R,RR		0.7801,0.6626,0.7401	,	,		92,12338				SO:0001651	inframe_deletion	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3002_3004delTCT	19.37:g.1788964_1788966delAGA	ENSP00000311336:p.Phe1001del		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	In_Frame_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.F1011in_frame_del	ENST00000310127.6	37	c.3034_3032	CCDS45901.1	19																																																																																			ATP8B3	-	tigrfam_Cation_transp_P_typ_ATPase	ENSG00000130270		0.631	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1		0	84	0	AGA	NM_138813		1788963	-1	tier1		no_errors	ENST00000539485	ensembl	human	known	74_37	in_frame_del	39.34	37	24	DEL	1.000:1.000:1.000	-	-	1788963	AGA	-	1788961	7	5	58	1	0	1	0	1	0	0	0	0	1197	420	15	0	922	0	ATP8B3	19	1788961	In_Frame_Del	DEL	AGA	TCGA-L5-A4OI-01A-11D-A27G-09	708854	1788961	57340022	1974	16357											
MOBKL2A	126308	genome.wustl.edu	37	chr19	2078178	2078178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctcgttgttgatctgcgCctcgatccagtccatcagca	6	12	9	14	3	2	1	1	1	1	0	7	2	5	1	4	0	2	3	4	0	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2078178C>T	ENST00000357066.3	-	3	761	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.A128T	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	128						intracellular (GO:0005622)	metal ion binding (GO:0046872)										TTGATCTGCGCCTCGATCCAG	0.602																																																	0													74	55	61					19																	2078178		2203	4300	6503	SO:0001583	missense	0			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"MOB kinase activators"	29802	protein-coding gene	gene with protein product	"MOB LAK"		"MOB1, Mps One Binder kinase activator-like 2A (yeast)"	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.382G>A	19.37:g.2078178C>T	ENSP00000349575:p.Ala128Thr		B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.A128T	ENST00000357066.3	37	c.382	CCDS12081.1	19	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323951	0.24080	.	.	ENSG00000172081	ENST00000357066	.	.	.	4.65	4.65	0.58169	.	0.252524	0.38663	N	0.001603	T	0.22627	0.0546	N	0.05230	-0.09	0.29120	N	0.880334	B	0.02656	0.0	B	0.06405	0.002	T	0.03887	-1.0995	9	0.12766	T	0.61	-20.3379	16.3333	0.83050	0.0:1.0:0.0:0.0	.	128	Q96BX8	MOB3A_HUMAN	T	128	.	ENSP00000349575:A128T	A	-	1	0	MOBKL2A	2029178	0.997000	0.39634	0.568000	0.28447	0.231000	0.25187	2.374000	0.44274	2.430000	0.82344	0.650000	0.86243	GCG	MOB3A	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000172081		0.602	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3A	HGNC	protein_coding	OTTHUMT00000450893.1	-	0	46	0	C	NM_130807		2078178	-1	tier1	-	no_errors	ENST00000357066	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T	T	2078178	C	T	2078178	3	4	58	1	0	0	0	0	1	0	0	0	9722	739	26	3	283	3	MOBKL2A	19	2078178	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	289217	2078178	57050805	1975	16358											
DOT1L	84444	genome.wustl.edu	37	chr19	2226760	2226760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaaggccgccaaggccCgggaccgcgaggtcgacctc	7	2	16	16	6	0	0	0	0	0	0	2	3	0	1	5	5	0	1	5	5	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2226760C>T	ENST00000398665.3	+	27	4276	c.4240C>T	c.(4240-4242)Cgg>Tgg	p.R1414W		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1414					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCAAGGCCCGGGACCGCGA	0.741																																																	0													12	19	17					19																	2226760		1968	4130	6098	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4240C>T	19.37:g.2226760C>T	ENSP00000381657:p.Arg1414Trp		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.R1414W	ENST00000398665.3	37	c.4240	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144440	0.57044	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.46063	1.3;0.88	4.42	4.42	0.53409	.	0.000000	0.46145	D	0.000310	T	0.55862	0.1947	M	0.62723	1.935	0.30735	N	0.746762	D;D	0.89917	0.999;1.0	D;D	0.83275	0.93;0.996	T	0.60146	-0.7320	10	0.87932	D	0	-22.9476	5.8428	0.18643	0.2076:0.6918:0.0:0.1005	.	1414;1414	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	W	1414;1414;294	ENSP00000381657:R1414W;ENSP00000407411:R294W	ENSP00000221482:R1414W	R	+	1	2	DOT1L	2177760	1.000000	0.71417	0.891000	0.34965	0.488000	0.33401	2.116000	0.41930	2.003000	0.58678	0.561000	0.74099	CGG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.741	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1		0	18	0	C	NM_032482		2226760	1			no_errors	ENST00000398665	ensembl	human	known	74_37	missense	38.46	8	5	SNP	0.989	T	T	2226760	C	T	2226760	3	4	58	1	0	0	0	0	1	0	0	0	4723	643	23	1	4346	1	DOT1L	19	2226760	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	148582	2226760	56902223	1976	16359											
JSRP1	126306	genome.wustl.edu	37	chr19	2252783	2252783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgatggaggcgcctgggCctcgaacttaggctgcaaga	8	7	15	11	3	0	2	0	1	0	1	1	4	0	3	2	4	2	3	2	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2252783C>T	ENST00000300961.6	-	7	605	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	MIR4321_ENST00000592276.1_RNA|JSRP1_ENST00000586471.2_Missense_Mutation_p.A181T	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	181	Pro-rich.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCTGGGCCTCGAACTTA	0.667																																																	0													16	21	19					19																	2252783		2128	4235	6363	SO:0001583	missense	0			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.541G>A	19.37:g.2252783C>T	ENSP00000300961:p.Ala181Thr			Missense_Mutation	SNP	NULL	p.A181T	ENST00000300961.6	37	c.541	CCDS12086.1	19	.	.	.	.	.	.	.	.	.	.	c	6.119	0.390239	0.11581	.	.	ENSG00000167476	ENST00000300961	T	0.21932	1.98	4.3	2.18	0.27775	.	1.327490	0.05203	N	0.505343	T	0.12902	0.0313	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	T	0.33701	-0.9858	10	0.15952	T	0.53	-4.0676	8.9659	0.35877	0.0:0.8155:0.0:0.1845	.	181	Q96MG2	JSPR1_HUMAN	T	181	ENSP00000300961:A181T	ENSP00000300961:A181T	A	-	1	0	JSRP1	2203783	0.000000	0.05858	0.007000	0.13788	0.005000	0.04900	-0.717000	0.04986	0.471000	0.27319	-0.261000	0.10672	GCC	JSRP1	-	NULL	ENSG00000167476		0.667	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JSRP1	HGNC	protein_coding	OTTHUMT00000451266.2	-	0	65	0	C	NM_144616		2252783	-1	tier1	-	no_errors	ENST00000300961	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.010	T	T	2252783	C	T	2252783	3	4	58	1	0	0	0	0	1	0	0	0	7993	739	26	3	458	3	JSRP1	19	2252783	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	26023	2252783	56876200	1977	16360											
TIMM13	26517	genome.wustl.edu	37	chr19	2426965	2426965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacatgttggctcgttccCgctgcagccgcgagttgtag	5	11	13	12	4	1	0	1	0	0	0	3	1	2	0	2	1	2	7	2	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2426965C>A	ENST00000215570.3	-	3	629	c.269G>T	c.(268-270)cGg>cTg	p.R90L	LMNB2_ENST00000475819.1_5'Flank|TIMM13_ENST00000591871.1_Missense_Mutation_p.R75L	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	90					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	zinc ion binding (GO:0008270)			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCGTTCCCGCTGCAGCCG	0.637																																																	0													40	28	32					19																	2426965		2200	4294	6494	SO:0001583	missense	0			AF152352	CCDS12089.1	19p13.3	2008-07-04	2001-11-28	2002-03-17		ENSG00000099800			11816	protein-coding gene	gene with protein product		607383	"translocase of inner mitochondrial membrane 13 (yeast) homolog B"	TIMM13B		10552927, 17329230	Standard	NM_012458		Approved	Tim13	uc002lvx.1	Q9Y5L4		ENST00000215570.3:c.269G>T	19.37:g.2426965C>A	ENSP00000215570:p.Arg90Leu		P62206|Q9UHL8|Q9WTL1	Missense_Mutation	SNP	pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf	p.R90L	ENST00000215570.3	37	c.269	CCDS12089.1	19	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614529	0.87359	.	.	ENSG00000099800	ENST00000215570	T	0.63096	-0.02	4.37	4.37	0.52481	.	0.069012	0.53938	U	0.000060	T	0.71600	0.3359	.	.	.	0.49798	D	0.999822	D	0.53885	0.963	P	0.52909	0.713	T	0.77143	-0.2696	9	0.72032	D	0.01	-27.4532	15.484	0.75551	0.0:1.0:0.0:0.0	.	90	Q9Y5L4	TIM13_HUMAN	L	90	ENSP00000215570:R90L	ENSP00000215570:R90L	R	-	2	0	TIMM13	2377965	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.931000	0.48932	1.961000	0.56991	0.313000	0.20887	CGG	TIMM13	-	superfamily_Tim10/DDP_fam_Znf	ENSG00000099800		0.637	TIMM13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM13	HGNC	protein_coding	OTTHUMT00000451333.1	-	0	169	0	C			2426965	-1	tier1	-	no_errors	ENST00000215570	ensembl	human	known	74_37	missense	6.20	121	8	SNP	1.000	A	A	2426965	C	A	2426965	3	1	58	1	0	0	0	0	1	0	0	0	15953	652	23	2	22	2	TIMM13	19	2426965	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	174182	2426965	56702018	1978	16361											
LMNB2	84823	genome.wustl.edu	37	chr19	2434830	2434830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagctgagggactccaggcGcatgcgggcctccttcagct	6	8	14	13	2	1	1	1	1	0	0	3	2	3	2	3	3	3	4	3	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2434830G>A	ENST00000582871.1	-	6	963	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	LMNB2_ENST00000325327.3_Missense_Mutation_p.R313C	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	293	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCCAGGCGCATGCGGGCC	0.687																																																	0													19	16	17					19																	2434830		2195	4284	6479	SO:0001583	missense	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.877C>T	19.37:g.2434830G>A	ENSP00000462730:p.Arg293Cys		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.R313C	ENST00000582871.1	37	c.937		19	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886828	0.72410	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.43	3.35	0.38373	Filament (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.89214	3.015	0.80722	D	1	D	0.57899	0.981	P	0.53649	0.731	T	0.78435	-0.2205	9	0.87932	D	0	.	8.9215	0.35615	0.0:0.0:0.5516:0.4484	.	293	Q03252	LMNB2_HUMAN	C	293	.	ENSP00000327054:R293C	R	-	1	0	LMNB2	2385830	1.000000	0.71417	0.926000	0.36857	0.898000	0.52572	1.844000	0.39269	2.008000	0.58898	0.561000	0.74099	CGC	LMNB2	-	pfam_IF	ENSG00000176619		0.687	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		-	0	25	0	G	NM_032737		2434830	-1	tier1	-	no_errors	ENST00000325327	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.942	A	A	2434830	G	A	2434830	3	1	58	1	0	0	0	0	1	0	0	0	8880	1087	38	1	953	1	LMNB2	19	2434830	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7865	2434830	56694153	1979	16362											
THOP1	7064	genome.wustl.edu	37	chr19	2807603	2807603	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggagacgcgctactgCgtggaccagaacctgctcaa	10	6	14	11	3	1	2	1	0	0	2	1	5	1	4	2	3	4	2	2	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2807603C>T	ENST00000307741.6	+	8	1253	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	THOP1_ENST00000586677.1_Silent_p.C229C|THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	350					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCTACTGCGTGGACCAGA	0.667																																																	0													55	57	57					19																	2807603		2201	4300	6501	SO:0001819	synonymous_variant	0				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1050C>T	19.37:g.2807603C>T			B3KSE2|Q9UCB3	Silent	SNP	pfam_Pept_M3A_M3B	p.C350	ENST00000307741.6	37	c.1050	CCDS12095.1	19																																																																																			THOP1	-	pfam_Pept_M3A_M3B	ENSG00000172009		0.667	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	-	0	67	0	C			2807603	1	tier1	-	no_errors	ENST00000307741	ensembl	human	known	74_37	silent	46.67	24	21	SNP	0.910	T	T	2807603	C	T	2807603	2	4	58	1	0	0	0	0	0	0	0	1	15918	776	27	1		1	THOP1	19	2807603	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	372773	2807603	56321380	1980	16363											
ZNF57	126295	genome.wustl.edu	37	chr19	2915522	2915522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggtttgtcttaggaCtcagtggtctttgaggatgt	5	17	14	5	0	3	1	1	1	2	0	3	3	3	3	0	4	0	1	0	4	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2915522C>T	ENST00000306908.5	+	2	154	c.6C>T	c.(4-6)gaC>gaT	p.D2D	ZNF57_ENST00000523428.1_5'UTR|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTTAGGACTCAGTGGTCT	0.493																																					NSCLC(150;910 1964 4303 10464 26498)												0													146	130	135					19																	2915522		2203	4300	6503	SO:0001819	synonymous_variant	0			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.6C>T	19.37:g.2915522C>T			Q8N6R9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D2	ENST00000306908.5	37	c.6	CCDS12098.1	19																																																																																			ZNF57	-	superfamily_Krueppel-associated_box	ENSG00000171970		0.493	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF57	HGNC	protein_coding	OTTHUMT00000378969.1	-	0	118	0	C	NM_173480		2915522	1	tier1	-	no_errors	ENST00000306908	ensembl	human	known	74_37	silent	21.31	96	26	SNP	0.009	T	T	2915522	C	T	2915522	2	4	58	1	0	0	0	0	0	0	0	1	18049	564	20	3		3	ZNF57	19	2915522	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	107919	2915522	56213461	1981	16364											
FZR1	51343	genome.wustl.edu	37	chr19	3534441	3534441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgtcccctgatggggaggCcatcgtcactggtgctggag	7	9	15	10	1	1	1	1	1	0	0	3	3	2	3	3	5	1	1	3	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3534441C>T	ENST00000395095.3	+	12	1370	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	FZR1_ENST00000441788.2_Missense_Mutation_p.A457V|FZR1_ENST00000313639.8_Missense_Mutation_p.A368V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	457					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGGGAGGCCATCGTCACT	0.597																																																	0													98	77	84					19																	3534441		2199	4298	6497	SO:0001583	missense	0			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1370C>T	19.37:g.3534441C>T	ENSP00000378529:p.Ala457Val		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A457V	ENST00000395095.3	37	c.1370	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379670	0.82682	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.58060	0.36;0.36;0.36	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.112648	0.64402	N	0.000013	T	0.48750	0.1517	N	0.02315	-0.6	0.80722	D	1	B;B;D	0.65815	0.016;0.095;0.995	B;B;D	0.66716	0.021;0.09;0.946	T	0.66348	-0.5946	10	0.62326	D	0.03	-38.7451	17.1378	0.86744	0.0:1.0:0.0:0.0	.	457;368;457	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	V	457;457;368	ENSP00000410369:A457V;ENSP00000378529:A457V;ENSP00000321800:A368V	ENSP00000321800:A368V	A	+	2	0	FZR1	3485441	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.523000	0.81856	2.381000	0.81170	0.561000	0.74099	GCC	FZR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000105325		0.597	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	-	0	75	0	C	NM_016263		3534441	1	tier1	-	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	39.19	45	29	SNP	1.000	T	T	3534441	C	T	3534441	3	4	58	1	0	0	0	0	1	0	0	0	6162	739	26	3	1416	3	FZR1	19	3534441	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	618919	3534441	55594542	1982	16365											
GIPC3	126326	genome.wustl.edu	37	chr19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-																															agaccctgcggcttcgttctGggggggctgccacagtggag																								rs202075236	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3589527delG	ENST00000322315.5	+	4	724	c.679delG	c.(679-681)gggfs	p.G228fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	228										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCGTTCTGGGGGGGCTGC	0.607																																																	0													35	41	39					19																	3589527		2203	4300	6503	SO:0001589	frameshift_variant	0			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"chromosome 19 open reading frame 64", "deafness, autosomal recessive 72", "deafness, autosomal recessive 15"	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.679delG	19.37:g.3589527delG	ENSP00000319254:p.Gly228fs		O75227	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.A229fs	ENST00000322315.5	37	c.679	CCDS32871.1	19																																																																																			GIPC3	-	pirsf_UCP038083_PDZ	ENSG00000179855		0.607	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1		0	80	0	G	NM_133261		3589527	1	tier1		no_errors	ENST00000322315	ensembl	human	known	74_37	frame_shift_del	37.65	53	32	DEL	0.803	-	-	3589527	G	-	3589527	7	5	58	1	0	1	0	1	0	0	0	0	6420	1348	47	0	693	0	GIPC3	19	3589527	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	55086	3589527	55539456	1983	16366											
ZFR2	23217	genome.wustl.edu	37	chr19	3807217	3807217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttggagggtcatgggctCgagggcatctgtctggtctc	4	12	15	10	1	5	0	1	0	4	0	7	2	5	1	0	5	0	2	0	5	0	1	rs200032828	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3807217C>T	ENST00000262961.4	-	18	2606	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	866	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTCATGGGCTCGAGGGCATCT	0.647													C|||	2	0.000399361	8e-04	0	5008	,	,		19486	0.001		0	False		,,,				2504	0																0								C	LYS/GLU	5,3971		0,5,1983	69	77	75		2596	3.4	0	19		75	0,8274		0,0,4137	yes	missense	ZFR2	NM_015174.1	56	0,5,6120	TT,TC,CC		0.0,0.1258,0.0408	benign	866/940	3807217	5,12245	1988	4137	6125	SO:0001583	missense	0			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2596G>A	19.37:g.3807217C>T	ENSP00000262961:p.Glu866Lys			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.E866K	ENST00000262961.4	37	c.2596	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	7.263	0.605650	0.14002	0.001258	0.0	ENSG00000105278	ENST00000262961	T	0.41400	1.0	3.41	3.41	0.39046	DZF (2);	1.014760	0.07911	N	0.974298	T	0.28699	0.0711	N	0.19112	0.55	0.18873	N	0.999989	B	0.16166	0.016	B	0.13407	0.009	T	0.10382	-1.0632	10	0.20046	T	0.44	-10.5975	10.5526	0.45099	0.0:1.0:0.0:0.0	.	866	Q9UPR6	ZFR2_HUMAN	K	866	ENSP00000262961:E866K	ENSP00000262961:E866K	E	-	1	0	ZFR2	3758217	0.000000	0.05858	0.022000	0.16811	0.672000	0.39443	0.763000	0.26517	1.934000	0.56057	0.555000	0.69702	GAG	ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.647	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	-	0	18	0	C	NM_015174		3807217	-1	tier1	rs200032828	no_errors	ENST00000262961	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.034	T	T	3807217	C	T	3807217	3	4	58	1	0	0	0	0	1	0	0	0	17708	893	31	1	231	1	ZFR2	19	3807217	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	217690	3807217	55321766	1984	16367											
ATCAY	85300	genome.wustl.edu	37	chr19	3913846	3913846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgtccagatcccagactgCgtcctgcagtgagtggcccc	7	7	11	16	2	0	3	0	1	0	2	3	3	3	3	5	1	2	1	5	1	0	0	rs370680121		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3913846C>T	ENST00000450849.2	+	9	1424	c.957C>T	c.(955-957)tgC>tgT	p.C319C	ATCAY_ENST00000398448.3_Silent_p.C325C|ATCAY_ENST00000301260.6_Silent_p.C319C|ATCAY_ENST00000600960.1_Silent_p.C319C	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	319	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.C319C(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCCAGACTGCGTCCTGCAGT	0.537													C|||	1	0.000199681	0	0.0014	5008	,	,		12433	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)						C		0,4086		0,0,2043	72	77	75		957	-2.7	0.8	19		75	1,8345		0,1,4172	no	coding-synonymous	ATCAY	NM_033064.4		0,1,6215	TT,TC,CC		0.012,0.0,0.0080		319/372	3913846	1,12431	2043	4173	6216	SO:0001819	synonymous_variant	0				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"Cayman ataxia", "caytaxin"	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.957C>T	19.37:g.3913846C>T			Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.C319	ENST00000450849.2	37	c.957	CCDS45923.1	19																																																																																			ATCAY	-	smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000167654		0.537	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	-	0	33	0	C			3913846	1	tier1	-	no_errors	ENST00000301260	ensembl	human	known	74_37	silent	34.78	30	16	SNP	0.937	T	T	3913846	C	T	3913846	2	4	58	1	0	0	0	0	0	0	0	1	1078	776	27	1		1	ATCAY	19	3913846	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	106629	3913846	55215137	1985	16368											
EEF2	1938	genome.wustl.edu	37	chr19	3980633	3980633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtccaaaggcgtagaaccGacctttgtcggaggttggca	9	9	13	10	4	0	1	0	0	0	1	3	3	1	2	3	4	1	3	3	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3980633G>A	ENST00000309311.6	-	9	1313	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	409					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTAGAACCGACCTTTGTCG	0.537																																					Colon(165;1804 1908 4071 6587 18799)												0													90	87	88					19																	3980633		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"polypeptidyl-tRNA translocase"	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1225C>T	19.37:g.3980633G>A	ENSP00000307940:p.Arg409Trp		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.R409W	ENST00000309311.6	37	c.1225	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297456	0.81025	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.82255	-1.59	5.66	4.55	0.56014	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.054130	0.64402	D	0.000001	D	0.94571	0.8251	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.96176	0.9127	10	0.87932	D	0	-40.0279	14.7278	0.69357	0.0:0.0:0.7731:0.2269	.	409	P13639	EF2_HUMAN	W	409	ENSP00000307940:R409W	ENSP00000307940:R409W	R	-	1	2	EEF2	3931633	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	4.669000	0.61575	2.674000	0.91012	0.561000	0.74099	CGG	EEF2	-	superfamily_Transl_B-barrel	ENSG00000167658		0.537	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0	57	0	G	NM_001961		3980633	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.987	A	A	3980633	G	A	3980633	3	1	58	1	0	0	0	0	1	0	0	0	4943	1057	37	1	1379	1	EEF2	19	3980633	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	66787	3980633	55148350	1986	16369											
PIAS4	51588	genome.wustl.edu	37	chr19	4033558	4033558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacaagccagccccctaCgaccagctcatcatcgacgg	10	5	9	17	4	2	0	2	0	0	0	3	3	2	0	4	1	5	1	4	1	2	1	rs367600720		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4033558C>T	ENST00000262971.2	+	9	1237	c.1122C>T	c.(1120-1122)taC>taT	p.Y374Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	374					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCCCCTACGACCAGCTCA	0.677																																																	0								C		1,4399		0,1,2199	26	24	25		1122	-4.5	0.9	19		25	0,8592		0,0,4296	no	coding-synonymous	PIAS4	NM_015897.2		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		374/511	4033558	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"Zinc fingers, MIZ-type"	17002	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 6"	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1122C>T	19.37:g.4033558C>T			O75926|Q96G19|Q9UN16	Silent	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.Y374	ENST00000262971.2	37	c.1122	CCDS12118.1	19																																																																																			PIAS4	-	pfscan_Znf_MIZ	ENSG00000105229		0.677	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	HGNC	protein_coding	OTTHUMT00000457496.1	-	0	67	0	C	NM_015897		4033558	1	tier1	-	no_errors	ENST00000262971	ensembl	human	known	74_37	silent	43.10	33	25	SNP	0.959	T	T	4033558	C	T	4033558	2	4	58	1	0	0	0	0	0	0	0	1	11917	547	19	1		1	PIAS4	19	4033558	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	52925	4033558	55095425	1987	16370											
SIRT6	51548	genome.wustl.edu	37	chr19	4175882	4175882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttagccacggtgcagagccGgcccgtggccttcaggccca	6	6	13	16	3	1	1	1	0	0	1	1	1	1	1	5	4	3	1	5	4	1	2	rs201293003		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4175882G>A	ENST00000337491.2	-	5	554	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	SIRT6_ENST00000594279.1_Missense_Mutation_p.R92W|SIRT6_ENST00000305232.6_Missense_Mutation_p.R164W|SIRT6_ENST00000381935.3_Missense_Mutation_p.R92W|SIRT6_ENST00000601488.1_Missense_Mutation_p.R103W	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	164	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCAGAGCCGGCCCGTGGCC	0.692																																																	0													19	16	17					19																	4175882		2198	4284	6482	SO:0001583	missense	0			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6", "sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.490C>T	19.37:g.4175882G>A	ENSP00000337332:p.Arg164Trp		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.R164W	ENST00000337491.2	37	c.490	CCDS12122.1	19	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708143	0.68615	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.18016	2.24;2.24;2.24	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.984;0.992;0.991;0.995	T	0.35425	-0.9789	10	0.87932	D	0	-30.0764	11.3587	0.49630	0.0:0.0:0.8183:0.1817	.	164;103;164;92	Q8N6T7-2;E9PCE1;Q8N6T7;B7Z5U1	.;.;SIRT6_HUMAN;.	W	164;164;92	ENSP00000337332:R164W;ENSP00000305310:R164W;ENSP00000371360:R92W	ENSP00000305310:R164W	R	-	1	2	SIRT6	4126882	0.995000	0.38212	0.942000	0.38095	0.661000	0.39034	2.424000	0.44714	2.126000	0.65437	0.491000	0.48974	CGG	SIRT6	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000077463		0.692	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT6	HGNC	protein_coding	OTTHUMT00000457931.2		0	12	0	G			4175882	-1			no_errors	ENST00000337491	ensembl	human	known	74_37	missense	33.33	6	3	SNP	0.971	A	A	4175882	G	A	4175882	3	1	58	1	0	0	0	0	1	0	0	0	14387	1115	39	1	593	1	SIRT6	19	4175882	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	142324	4175882	54953101	1988	16371											
EBI3	10148	genome.wustl.edu	37	chr19	4233255	4233255	+	Frame_Shift_Del	DEL	C	C	-																															ctcaatgtcaccgccgtccaCccctggggctccagcagcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4233255delC	ENST00000221847.5	+	3	383	c.330delC	c.(328-330)cacfs	p.H110fs		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	110	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCGTCCACCCCTGGGGCT	0.657																																																	0													55	39	44					19																	4233255		2203	4300	6503	SO:0001589	frameshift_variant	0			L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"Fibronectin type III domain containing"	3129	protein-coding gene	gene with protein product	"IL27 subunit", "IL35 subunit"	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.330delC	19.37:g.4233255delC	ENSP00000221847:p.His110fs		A0N0N2|O75269	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.W112fs	ENST00000221847.5	37	c.330	CCDS12123.1	19																																																																																			EBI3	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105246		0.657	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBI3	HGNC	protein_coding	OTTHUMT00000458005.1		0	104	0	C			4233255	1	tier1		no_errors	ENST00000221847	ensembl	human	known	74_37	frame_shift_del	9.59	66	7	DEL	0.004	-	-	4233255	C	-	4233255	7	5	58	1	0	1	0	1	0	0	0	0	4897	506	18	0	340	0	EBI3	19	4233255	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	57373	4233255	54895728	1989	16372											
STAP2	55620	genome.wustl.edu	37	chr19	4325468	4325468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcttcctggttcggtagtgGgggcagtgggggcagcttgt	3	12	18	8	1	1	0	0	0	1	0	3	0	2	0	1	6	1	5	1	6	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4325468G>T	ENST00000594605.1	-	10	1027	c.904C>A	c.(904-906)Cca>Aca	p.P302T	STAP2_ENST00000600324.1_Missense_Mutation_p.P302T|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	302	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGGTAGTGGGGGCAGTGGG	0.602																																																	0													97	102	100					19																	4325468		2203	4300	6503	SO:0001583	missense	0			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.904C>A	19.37:g.4325468G>T	ENSP00000471052:p.Pro302Thr		A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.P302T	ENST00000594605.1	37	c.904	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056990	0.36277	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	3.85	1.5	0.22942	.	0.343849	0.22906	N	0.054192	T	0.29423	0.0733	L	0.50333	1.59	0.09310	N	1	P;P	0.40476	0.718;0.557	B;B	0.39419	0.215;0.299	T	0.15896	-1.0421	9	0.87932	D	0	-14.5032	6.3086	0.21153	0.0:0.2062:0.5812:0.2126	.	302;302	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	T	302	.	ENSP00000317912:P302T	P	-	1	0	STAP2	4276468	0.017000	0.18338	0.020000	0.16555	0.480000	0.33159	0.598000	0.24074	0.085000	0.17107	-0.529000	0.04317	CCA	STAP2	-	NULL	ENSG00000178078		0.602	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2		0	52	0	G	NM_001013841		4325468	-1			no_errors	ENST00000600324	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.011	T	T	4325468	G	T	4325468	3	4	58	1	0	0	0	0	1	0	0	0	15300	1232	43	3	461	3	STAP2	19	4325468	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	92213	4325468	54803515	1990	16373											
CHAF1A	10036	genome.wustl.edu	37	chr19	4409561	4409564	+	Frame_Shift_Del	DEL	CCTT	CCTT	-																															agaccaccgcaaatcaagtcCcttccagccacaccccaagg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CCTT	CCTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4409561_4409564delCCTT	ENST00000301280.5	+	3	866_869	c.765_768delCCTT	c.(763-768)tcccttfs	p.SL255fs		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	255	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATCAAGTCCCTTCCAGCCACAC	0.549								Chromatin Structure																																									0																																										SO:0001589	frameshift_variant	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.765_768delCCTT	19.37:g.4409561_4409564delCCTT	ENSP00000301280:p.Ser255fs		Q6NXG5|Q7Z7K3|Q9UJY8	Frame_Shift_Del	DEL	pfam_CAF1A	p.L256fs	ENST00000301280.5	37	c.765_768	CCDS32875.1	19																																																																																			CHAF1A	-	NULL	ENSG00000167670		0.549	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2		0	62	0	CCTT	NM_005483		4409564	1	tier1		no_errors	ENST00000301280	ensembl	human	known	74_37	frame_shift_del	27.27	32	12	DEL	0.006:0.007:0.000:0.000	-	-	4409564	CCTT	-	4409561	7	5	58	1	0	1	0	1	0	0	0	0	3318	610	22	0	775	0	CHAF1A	19	4409561	Frame_Shift_Del	DEL	CCTT	TCGA-L5-A4OI-01A-11D-A27G-09	84093	4409561	54719422	1991	16374											
UBXN6	80700	genome.wustl.edu	37	chr19	4446060	4446060	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccagcccgcactcgtTcaaggccaggttctcgtcct	7	9	8	17	3	3	0	2	0	1	0	6	0	4	0	4	2	1	3	4	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4446060T>C	ENST00000301281.6	-	10	1310	c.1186A>G	c.(1186-1188)Aac>Gac	p.N396D	MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.N343D|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	396	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCGCACTCGTTCAAGGCCAGG	0.677																																																	0													59	58	59					19																	4446060		2203	4300	6503	SO:0001583	missense	0			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"UBX domain containing"	14928	protein-coding gene	gene with protein product		611946	"UBX domain-containing 1", "UBX domain containing 1"	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1186A>G	19.37:g.4446060T>C	ENSP00000301281:p.Asn396Asp		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.N396D	ENST00000301281.6	37	c.1186	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965048	0.74131	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.41758	0.99;0.99	5.66	4.63	0.57726	UBX (3);	0.466226	0.24623	N	0.036941	T	0.45677	0.1354	L	0.35593	1.075	0.39695	D	0.971094	P;D	0.59357	0.793;0.985	P;P	0.56563	0.452;0.801	T	0.35699	-0.9778	10	0.36615	T	0.2	-21.318	12.2019	0.54331	0.0:0.0:0.1428:0.8571	.	343;396	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	D	396;343	ENSP00000301281:N396D;ENSP00000378246:N343D	ENSP00000301281:N396D	N	-	1	0	UBXN6	4397060	1.000000	0.71417	0.911000	0.35937	0.722000	0.41435	4.451000	0.60047	0.964000	0.38108	0.459000	0.35465	AAC	UBXN6	-	pfam_UBX,smart_UBX,pfscan_UBX	ENSG00000167671		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3		0	18	0	T	NM_025241		4446060	-1			no_errors	ENST00000301281	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.978	C	C	4446060	T	C	4446060	3	2	58	1	0	0	0	0	1	0	0	0	16966	1783	62	4	147	4	UBXN6	19	4446060	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	36499	4446060	54682923	1992	16375											
PLIN4	729359	genome.wustl.edu	37	chr19	4511502	4511502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggtaccggtcagcaCggtcttggccgtgtctacac	5	11	12	13	3	3	0	1	0	2	0	4	0	4	0	3	4	3	2	3	4	2	4	rs113169027	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4511502C>T	ENST00000301286.3	-	3	2427	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	810	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCGGTCAGCACGGTCTTGGCC	0.587													c|||	241	0.048123	0.1702	0.0231	5008	,	,		26010	0		0	False		,,,				2504	0																0								T	MET/VAL	428,3756		1,426,1665	104	137	126		2428	1.1	0	19	dbSNP_132	126	5,8435		0,5,4215	yes	missense	PLIN4	NM_001080400.1	21	1,431,5880	TT,TC,CC		0.0592,10.2294,3.43	probably-damaging	810/1358	4511502	433,12191	2092	4220	6312	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2428G>A	19.37:g.4511502C>T	ENSP00000301286:p.Val810Met		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.V810M	ENST00000301286.3	37	c.2428	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	c	11.15	1.553381	0.27739	0.102294	5.92E-4	ENSG00000167676	ENST00000301286	T	0.07688	3.17	4.46	1.09	0.20402	.	0.184855	0.25622	N	0.029408	T	0.00300	0.0009	M	0.87758	2.905	0.09310	N	1	B	0.34015	0.435	B	0.28011	0.085	T	0.20042	-1.0287	10	0.31617	T	0.26	-15.7221	6.7886	0.23687	0.0:0.6912:0.0:0.3088	.	810	Q96Q06	PLIN4_HUMAN	M	810	ENSP00000301286:V810M	ENSP00000301286:V810M	V	-	1	0	PLIN4	4462502	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.079000	0.14782	0.033000	0.15463	-0.355000	0.07637	GTG	PLIN4	-	NULL	ENSG00000167676		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0	262	0	C	XM_170901		4511502	-1	tier1	rs113169027	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	25.13	148	50	SNP	0.006	T	T	4511502	C	T	4511502	3	4	58	1	0	0	0	0	1	0	0	0	12131	536	19	1	1661	1	PLIN4	19	4511502	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	65442	4511502	54617481	1993	16376											
LRG1	116844	genome.wustl.edu	37	chr19	4538425	4538425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccaaggtcaagggtgcGcaggagggtgaagttggcca	9	6	16	10	1	1	1	1	1	0	0	2	2	2	2	3	5	1	2	3	5	3	1	rs374325546		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4538425G>A	ENST00000306390.6	-	2	1031	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	191					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGGGTGCGCAGGAGGGTG	0.602																																																	0								G	CYS/ARG	1,4405		0,1,2202	118	131	127		571	4.9	0.9	19		127	0,8600		0,0,4300	no	missense	LRG1	NM_052972.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	191/348	4538425	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"leucine rich alpha 2 glycoprotein"	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.571C>T	19.37:g.4538425G>A	ENSP00000302621:p.Arg191Cys		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R191C	ENST00000306390.6	37	c.571	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883995	0.51908	2.27E-4	0.0	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02709	4.19	4.93	4.93	0.64822	.	1.085560	0.07213	N	0.859511	T	0.20820	0.0501	M	0.92268	3.29	0.42084	D	0.991265	D	0.76494	0.999	P	0.60682	0.878	T	0.00415	-1.1753	10	0.56958	D	0.05	-9.6951	13.494	0.61414	0.0:0.0:1.0:0.0	.	191	P02750	A2GL_HUMAN	C	191;174	ENSP00000302621:R191C	ENSP00000302621:R191C	R	-	1	0	LRG1	4489425	0.024000	0.19004	0.949000	0.38748	0.363000	0.29612	0.253000	0.18296	2.564000	0.86499	0.655000	0.94253	CGC	LRG1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.602	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	-	0	59	0	G	NM_052972		4538425	-1	tier1	-	no_errors	ENST00000306390	ensembl	human	known	74_37	missense	50.00	27	27	SNP	0.885	A	A	4538425	G	A	4538425	3	1	58	1	0	0	0	0	1	0	0	0	8977	1087	38	1	476	1	LRG1	19	4538425	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	26923	4538425	54590558	1994	16377											
FEM1A	55527	genome.wustl.edu	37	chr19	4792859	4792859	+	Frame_Shift_Del	DEL	G	G	-																															gccatggagctgcgtcaccaGgggggcgagtacctgcccaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4792859delG	ENST00000269856.3	+	1	1132	c.993delG	c.(991-993)cagfs	p.Q331fs	AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	331					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCGTCACCAGGGGGGCGAGT	0.597																																																	0													39	43	42					19																	4792859		2203	4299	6502	SO:0001589	frameshift_variant	0			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.993delG	19.37:g.4792859delG	ENSP00000269856:p.Gln331fs		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G333fs	ENST00000269856.3	37	c.993	CCDS12135.1	19																																																																																			FEM1A	-	NULL	ENSG00000141965		0.597	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1		0	132	0	G			4792859	1	tier1		no_errors	ENST00000269856	ensembl	human	known	74_37	frame_shift_del	33.33	54	27	DEL	1.000	-	-	4792859	G	-	4792859	7	5	58	1	0	1	0	1	0	0	0	0	5831	991	35	0	995	0	FEM1A	19	4792859	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	254434	4792859	54336124	1995	16378											
TICAM1	148022	genome.wustl.edu	37	chr19	4816464	4816465	+	Frame_Shift_Ins	INS	-	-	G																															ctggctgtggggagggcggtINSgggggggtgccagcctgcca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4816464_4816465insG	ENST00000248244.5	-	2	2154_2155	c.1925_1926insC	c.(1924-1926)ccafs	p.P642fs		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	642	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P643fs*>71(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGAGGGCGGTGGGGGGGTGCC	0.733																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1926dupC	19.37:g.4816471_4816471dupG	ENSP00000248244:p.Pro642fs		B3Y691|O75532|Q86XP8|Q96GA0	Frame_Shift_Ins	INS	superfamily_TIR_dom,pirsf_TICAM1	p.P643fs	ENST00000248244.5	37	c.1926_1925	CCDS12136.1	19																																																																																			TICAM1	-	pirsf_TICAM1	ENSG00000127666		0.733	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1		0	85	0	-	NM_014261		4816465	-1	tier1		no_errors	ENST00000248244	ensembl	human	known	74_37	frame_shift_ins	23.53	39	12	INS	0.000:0.003	G	G	4816465	-	G	4816464	7	5	58	1	0	1	1	0	0	0	0	0	15939	1683	59	0	216	0	TICAM1	19	4816464	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	23605	4816464	54312519	1996	16379											
UHRF1	29128	genome.wustl.edu	37	chr19	4910891	4910891	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccctcccctcagcgcCgacaccatgtggatccaggt	6	8	10	17	2	1	0	1	0	0	0	4	2	4	1	6	2	1	1	6	2	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4910891C>T	ENST00000592666.1	+	0	570							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTCAGCGCCGACACCATGT	0.607											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	80	77					19																	4910891		2024	4185	6209			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4910891C>T		622	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-	ENSG00000034063		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	-	0	39	0	C	NM_001048201		4910891	1	tier1	-	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	41.46	24	17	SNP	0.969	T	T	4910891	C	T	4910891	1	4	58	0	1	0	0	0	0	0	0	0	17016	639	23	1		1	UHRF1	19	4910891	RNA	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	94427	4910891	54218092	1997	16380											
UHRF1	29128	genome.wustl.edu	37	chr19	4944160	4944160	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtactgccctgagtgcCggaatgatgccagcgaggtg	8	7	16	10	2	0	2	0	2	0	0	0	4	0	3	3	3	5	2	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4944160C>A	ENST00000592666.1	+	0	1666							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGAGTGCCGGAATGATGC	0.627																																																	0													53	64	61					19																	4944160		2152	4228	6380			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"RING-type (C3HC4) zinc fingers"	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944160C>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-	ENSG00000034063		0.627	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	-	0	98	0	C	NM_001048201		4944160	1	tier1	-	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	31.08	51	23	SNP	0.997	A	A	4944160	C	A	4944160	1	1	58	0	1	0	0	0	0	0	0	0	17016	643	23	2		2	UHRF1	19	4944160	RNA	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	33269	4944160	54184823	1998	16381											
PTPRS	5802	genome.wustl.edu	37	chr19	5239054	5239054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaccacgtaggaagtcgtCgggtcgaaggtccttcccac	8	8	11	14	4	0	0	0	0	0	0	6	2	3	1	4	3	0	1	4	3	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:5239054C>T	ENST00000587303.1	-	12	1824	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Silent_p.P562P|PTPRS_ENST00000262963.6_Silent_p.P571P|PTPRS_ENST00000372412.4_Silent_p.P576P|PTPRS_ENST00000588012.1_Silent_p.P562P|PTPRS_ENST00000592099.1_Silent_p.P562P|PTPRS_ENST00000353284.2_Silent_p.P562P|PTPRS_ENST00000357368.4_Silent_p.P575P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	575	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGGAAGTCGTCGGGTCGAAGG	0.652																																																	0													71	61	64					19																	5239054		2203	4300	6503	SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1725G>A	19.37:g.5239054C>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.P576	ENST00000587303.1	37	c.1728	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.652	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	47	0	C			5239054	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.008	T	T	5239054	C	T	5239054	2	4	58	1	0	0	0	0	0	0	0	1	12856	871	31	1		1	PTPRS	19	5239054	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	294894	5239054	53889929	1999	16382											
RFX2	5990	genome.wustl.edu	37	chr19	6010242	6010242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtccccgaggctgtccGtcttctgggctggccggtac	2	10	14	15	4	2	0	0	0	2	0	4	1	4	0	4	4	1	4	4	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6010242G>A	ENST00000303657.5	-	9	1069	c.920C>T	c.(919-921)aCg>aTg	p.T307M	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.T307M|RFX2_ENST00000592546.1_Missense_Mutation_p.T282M	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAGGCTGTCCGTCTTCTGGGC	0.667																																					Colon(38;171 817 19800 47433 48051)												0													22	17	18					19																	6010242		2020	3830	5850	SO:0001583	missense	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.920C>T	19.37:g.6010242G>A	ENSP00000306335:p.Thr307Met		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.T307M	ENST00000303657.5	37	c.920	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	G	7.710	0.695013	0.15039	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.63580	-0.05	5.37	2.8	0.32819	.	0.435942	0.27198	N	0.020462	T	0.23727	0.0574	N	0.00633	-1.31	0.25193	N	0.99011	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.16129	-1.0413	10	0.22706	T	0.39	-11.9492	5.0359	0.14434	0.201:0.2:0.599:0.0	.	282;307	P48378-2;P48378	.;RFX2_HUMAN	M	307;282;94	ENSP00000306335:T307M	ENSP00000306335:T307M	T	-	2	0	RFX2	5961242	0.996000	0.38824	0.885000	0.34714	0.847000	0.48162	3.151000	0.50670	1.221000	0.43506	0.561000	0.74099	ACG	RFX2	-	NULL	ENSG00000087903		0.667	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	-	0	84	0	G	NM_000635		6010242	-1	tier1	-	no_errors	ENST00000303657	ensembl	human	known	74_37	missense	46.28	64	56	SNP	0.999	A	A	6010242	G	A	6010242	3	1	58	1	0	0	0	0	1	0	0	0	13308	1145	40	1	1291	1	RFX2	19	6010242	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	771188	6010242	53118741	2000	16383											
SLC25A23	79085	genome.wustl.edu	37	chr19	6458220	6458220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccttaccatcctggttcCggtcaagactgtgaaacatg	10	10	9	12	2	1	2	1	1	0	1	3	3	3	2	4	2	2	1	4	2	3	2	rs549386407		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6458220C>T	ENST00000301454.4	-	2	378	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	SLC25A23_ENST00000334510.5_Missense_Mutation_p.R91Q	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ATCCTGGTTCCGGTCAAGACT	0.607													C|||	1	0.000199681	0	0	5008	,	,		18683	0.001		0	False		,,,				2504	0																0													54	44	47					19																	6458220		2203	4300	6503	SO:0001583	missense	0			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.272G>A	19.37:g.6458220C>T	ENSP00000301454:p.Arg91Gln		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R91Q	ENST00000301454.4	37	c.272	CCDS32882.1	19	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245228	0.59103	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	T;T;T	0.71698	-0.59;-0.59;-0.59	4.72	3.68	0.42216	EF-hand-like domain (1);	0.367561	0.26072	N	0.026501	T	0.63367	0.2505	L	0.56769	1.78	0.44539	D	0.997493	B	0.30439	0.279	B	0.28784	0.094	T	0.57814	-0.7746	10	0.22706	T	0.39	-22.354	11.5798	0.50885	0.0:0.9103:0.0:0.0897	.	91	Q9BV35	SCMC3_HUMAN	Q	91	ENSP00000264088:R91Q;ENSP00000301454:R91Q;ENSP00000334537:R91Q	ENSP00000264088:R91Q	R	-	2	0	SLC25A23	6409220	0.815000	0.29118	0.996000	0.52242	0.897000	0.52465	1.348000	0.33987	0.983000	0.38602	0.462000	0.41574	CGG	SLC25A23	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000125648		0.607	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A23	HGNC	protein_coding	OTTHUMT00000453325.1	-	0	35	0	C	NM_024103		6458220	-1	tier1	-	no_errors	ENST00000264088	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.999	T	T	6458220	C	T	6458220	3	4	58	1	0	0	0	0	1	0	0	0	14531	652	23	1	1170	1	SLC25A23	19	6458220	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	447978	6458220	52670763	2001	16384											
C3	718	genome.wustl.edu	37	chr19	6694571	6694571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgttctgttccccgcagcCcgagggggtcacaatgaggt	7	9	13	12	2	2	1	1	1	1	0	3	2	3	1	3	3	1	3	3	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6694571C>A	ENST00000245907.6	-	24	3117	c.3025G>T	c.(3025-3027)Ggc>Tgc	p.G1009C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1009					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCCCCGCAGCCCGAGGGGGTC	0.612																																																	0													102	81	88					19																	6694571		2203	4300	6503	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3025G>T	19.37:g.6694571C>A	ENSP00000245907:p.Gly1009Cys		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.G1009C	ENST00000245907.6	37	c.3025	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479917	0.84747	.	.	ENSG00000125730	ENST00000245907	D	0.87103	-2.21	5.76	5.76	0.90799	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);Alpha-2-macroglobulin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96871	0.9639	10	0.87932	D	0	.	18.7892	0.91966	0.0:1.0:0.0:0.0	.	1009	P01024	CO3_HUMAN	C	1009	ENSP00000245907:G1009C	ENSP00000245907:G1009C	G	-	1	0	C3	6645571	1.000000	0.71417	0.985000	0.45067	0.578000	0.36192	7.304000	0.78882	2.735000	0.93741	0.650000	0.86243	GGC	C3	-	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0	36	0	C	NM_000064		6694571	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	50.00	24	24	SNP	1.000	A	A	6694571	C	A	6694571	3	1	58	1	0	0	0	0	1	0	0	0	2211	623	22	3	2038	3	C3	19	6694571	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	236351	6694571	52434412	2002	16385											
C3	718	genome.wustl.edu	37	chr19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-																															ggaacggacaacgaggacttGggggggatggttacggtctg																								rs137956083	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6697481delG	ENST00000245907.6	-	21	2762	c.2670delC	c.(2668-2670)cccfs	p.P890fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	890					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACGAGGACTTGGGGGGGATGG	0.572																																																	0													122	96	105					19																	6697481		2203	4300	6503	SO:0001589	frameshift_variant	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2670delC	19.37:g.6697481delG	ENSP00000245907:p.Pro890fs		A7E236	Frame_Shift_Del	DEL	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.K891fs	ENST00000245907.6	37	c.2670	CCDS32883.1	19																																																																																			C3	-	NULL	ENSG00000125730		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0	80	0	G	NM_000064		6697481	-1	tier1		no_errors	ENST00000245907	ensembl	human	known	74_37	frame_shift_del	37.11	61	36	DEL	0.014	-	-	6697481	G	-	6697481	7	5	58	1	0	1	0	1	0	0	0	0	2211	1335	47	0	2405	0	C3	19	6697481	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	2910	6697481	52431502	2003	16386											
TRIP10	9322	genome.wustl.edu	37	chr19	6743770	6743770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccgaagaaagcaaaaacGaatatgcggctcaactgcag	16	5	11	9	3	1	1	1	0	0	1	1	3	1	1	1	2	5	3	1	2	7	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6743770G>A	ENST00000313244.9	+	7	600	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	TRIP10_ENST00000600428.1_Missense_Mutation_p.E81K|TRIP10_ENST00000313285.8_Missense_Mutation_p.E189K|TRIP10_ENST00000596758.1_Missense_Mutation_p.E189K			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	189	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGCAAAAACGAATATGCGGC	0.527																																																	0													186	163	170					19																	6743770		2203	4300	6503	SO:0001583	missense	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.565G>A	19.37:g.6743770G>A	ENSP00000320117:p.Glu189Lys		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.E189K	ENST00000313244.9	37	c.565		19	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735534	0.69189	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.49720	0.77;2.35	4.78	4.78	0.61160	.	0.054132	0.64402	D	0.000001	T	0.66416	0.2787	M	0.77103	2.36	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.993;0.969	D;P;B	0.64321	0.924;0.893;0.314	T	0.71467	-0.4584	10	0.87932	D	0	-25.2314	13.6758	0.62454	0.0:0.0:1.0:0.0	.	189;189;189	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	K	189	ENSP00000320493:E189K;ENSP00000320117:E189K	ENSP00000320117:E189K	E	+	1	0	TRIP10	6694770	1.000000	0.71417	0.993000	0.49108	0.552000	0.35366	8.549000	0.90672	2.373000	0.80994	0.462000	0.41574	GAA	TRIP10	-	NULL	ENSG00000125733		0.527	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	-	0	35	0	G			6743770	1	tier1	-	no_errors	ENST00000313244	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	A	A	6743770	G	A	6743770	3	1	58	1	0	0	0	0	1	0	0	0	16602	1059	37	1	591	1	TRIP10	19	6743770	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	46289	6743770	52385213	2004	16387											
TRIP10	9322	genome.wustl.edu	37	chr19	6750380	6750380	+	Frame_Shift_Del	DEL	C	C	-																															cggcacgcccggcctcccgaCccccccgctagcgccccgcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6750380delC	ENST00000313244.9	+	13	1508	c.1473delC	c.(1471-1473)gacfs	p.D491fs	TRIP10_ENST00000600428.1_Frame_Shift_Del_p.D327fs|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Frame_Shift_Del_p.D435fs|TRIP10_ENST00000596758.1_Frame_Shift_Del_p.D435fs			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	491	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGCCTCCCGACCCCCCCGCTA	0.657																																																	0													40	51	47					19																	6750380		2202	4300	6502	SO:0001589	frameshift_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1473delC	19.37:g.6750380delC	ENSP00000320117:p.Asp491fs		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Frame_Shift_Del	DEL	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.A494fs	ENST00000313244.9	37	c.1473		19																																																																																			TRIP10	-	NULL	ENSG00000125733		0.657	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0	69	0	C			6750380	1	tier1		no_errors	ENST00000313244	ensembl	human	known	74_37	frame_shift_del	30.91	38	17	DEL	0.994	-	-	6750380	C	-	6750380	7	5	58	1	0	1	0	1	0	0	0	0	16602	506	18	0	1351	0	TRIP10	19	6750380	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	6610	6750380	52378603	2005	16388											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7504999	7504999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcgaacatggggaatgCgcactccaaaagcggggaca	12	3	16	10	4	0	0	0	0	0	0	1	3	1	2	1	5	3	1	1	5	4	0	rs546993799	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7504999C>T	ENST00000359920.6	+	1	426	c.173C>T	c.(172-174)gCg>gTg	p.A58V	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	58					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ATGGGGAATGCGCACTCCAAA	0.647													C|||	2	0.000399361	8e-04	0.0014	5008	,	,		12314	0		0	False		,,,				2504	0																0													22	25	24					19																	7504999		692	1591	2283	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.173C>T	19.37:g.7504999C>T	ENSP00000352995:p.Ala58Val		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A58V	ENST00000359920.6	37	c.173	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012718	0.19277	.	.	ENSG00000104880	ENST00000359920	T	0.35789	1.29	5.31	3.11	0.35812	.	0.357409	0.19907	U	0.103364	T	0.16938	0.0407	N	0.19112	0.55	0.09310	N	0.999998	P	0.41131	0.739	B	0.25614	0.062	T	0.08722	-1.0708	10	0.45353	T	0.12	1.268	8.2394	0.31652	0.3193:0.5261:0.1546:0.0	.	58	Q6ZSZ5	ARHGI_HUMAN	V	58	ENSP00000352995:A58V	ENSP00000352995:A58V	A	+	2	0	ARHGEF18	7410999	0.005000	0.15991	0.000000	0.03702	0.017000	0.09413	0.885000	0.28227	0.581000	0.29539	0.561000	0.74099	GCG	ARHGEF18	-	NULL	ENSG00000104880		0.647	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0	55	0	C	NM_015318		7504999	1	tier1	-	no_errors	ENST00000359920	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.000	T	T	7504999	C	T	7504999	3	4	58	1	0	0	0	0	1	0	0	0	901	768	27	1	175	1	ARHGEF18	19	7504999	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	754619	7504999	51623984	2006	16389											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7534888	7534888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagccctatcctgcccGgcagacacagtcctgcgccc	6	6	10	19	3	0	2	0	1	0	1	2	2	2	2	5	1	3	2	5	1	1	1	rs567452162		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7534888G>A	ENST00000359920.6	+	18	3575	c.3322G>A	c.(3322-3324)Ggc>Agc	p.G1108S	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G950S|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1065P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1108	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TATCCTGCCCGGCAGACACAG	0.672													G|||	1	0.000199681	0	0	5008	,	,		13453	0		0	False		,,,				2504	0.001																0													58	68	64					19																	7534888		2203	4300	6503	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3322G>A	19.37:g.7534888G>A	ENSP00000352995:p.Gly1108Ser		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1108S	ENST00000359920.6	37	c.3322	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	3.777	-0.046341	0.07407	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.29655	1.6;1.56	5.4	-7.94	0.01152	.	1.036650	0.07667	N	0.934786	T	0.09423	0.0232	N	0.01048	-1.04	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.0	T	0.47686	-0.9098	10	0.07990	T	0.79	-3.1603	17.4982	0.87724	0.3275:0.0:0.6725:0.0	.	950;1108	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	S	950;1108	ENSP00000319200:G950S;ENSP00000352995:G1108S	ENSP00000319200:G950S	G	+	1	0	ARHGEF18	7440888	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.672000	0.01952	-2.332000	0.00632	-2.299000	0.00261	GGC	ARHGEF18	-	NULL	ENSG00000104880		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0	43	0	G	NM_015318		7534888	1	tier1	-	no_errors	ENST00000359920	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.001	A	A	7534888	G	A	7534888	3	1	58	1	0	0	0	0	1	0	0	0	901	1116	39	1	3392	1	ARHGEF18	19	7534888	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	29889	7534888	51594095	2007	16390											
MCOLN1	57192	genome.wustl.edu	37	chr19	7595268	7595268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcaggcgcagcagggcCgcagcagcctggtgtggctc	6	5	16	14	2	0	0	0	0	0	0	1	0	0	0	3	4	4	6	3	4	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7595268C>T	ENST00000264079.6	+	12	1581	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	486					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGCAGGGCCGCAGCAGCCT	0.582																																																	0													241	225	231					19																	7595268		2203	4300	6503	SO:0001583	missense	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1456C>T	19.37:g.7595268C>T	ENSP00000264079:p.Arg486Cys		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.R486C	ENST00000264079.6	37	c.1456	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885740	0.51908	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.70282	-0.47	4.56	2.24	0.28232	Polycystin cation channel, PKD1/PKD2 (1);	0.249971	0.46442	D	0.000292	T	0.42381	0.1200	N	0.08118	0	0.33310	D	0.565969	B;B	0.30482	0.281;0.0	B;B	0.16722	0.016;0.001	T	0.52808	-0.8526	10	0.66056	D	0.02	.	5.089	0.14698	0.308:0.589:0.0:0.103	.	451;486	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	C	486;451	ENSP00000264079:R486C	ENSP00000264079:R486C	R	+	1	0	MCOLN1	7501268	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.974000	0.40559	1.241000	0.43820	0.563000	0.77884	CGC	MCOLN1	-	pfam_PKD1_2_channel	ENSG00000090674		0.582	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	-	0	54	0	C	NM_020533		7595268	1	tier1	-	no_errors	ENST00000264079	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	T	T	7595268	C	T	7595268	3	4	58	1	0	0	0	0	1	0	0	0	9433	652	23	1	1502	1	MCOLN1	19	7595268	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	60380	7595268	51533715	2008	16391											
KIAA1543	57662	genome.wustl.edu	37	chr19	7670318	7670318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacagtgcctgctttgcccGagcgcccggtgcgcgaggcc	4	6	15	16	5	0	0	0	0	0	0	0	2	0	0	4	2	5	2	4	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7670318G>A	ENST00000160298.4	+	2	456	c.355G>A	c.(355-357)Gag>Aag	p.E119K	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E119K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	119					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGCTTTGCCCGAGCGCCCGGT	0.687																																																	0													22	26	25					19																	7670318		1964	4143	6107	SO:0001583	missense	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.355G>A	19.37:g.7670318G>A	ENSP00000160298:p.Glu119Lys		Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.E119K	ENST00000160298.4	37	c.355	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	16.15	3.042509	0.55003	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.16597	2.38;2.33	4.45	4.45	0.53987	.	0.270733	0.33092	N	0.005282	T	0.23649	0.0572	L	0.54323	1.7	0.39829	D	0.972944	P;D	0.62365	0.939;0.991	B;P	0.46320	0.236;0.512	T	0.10451	-1.0629	10	0.72032	D	0.01	-18.7141	15.8571	0.78987	0.0:0.0:1.0:0.0	.	119;119	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	K	119	ENSP00000416797:E119K;ENSP00000160298:E119K	ENSP00000160298:E119K	E	+	1	0	KIAA1543	7576318	1.000000	0.71417	0.950000	0.38849	0.076000	0.17211	7.166000	0.77553	2.005000	0.58758	0.478000	0.44815	GAG	CAMSAP3	-	NULL	ENSG00000076826		0.687	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	-	0	29	0	G	XM_048362		7670318	1	tier1	-	no_errors	ENST00000446248	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.889	A	A	7670318	G	A	7670318	3	1	58	1	0	0	0	0	1	0	0	0	8270	1059	37	1	361	1	KIAA1543	19	7670318	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	75050	7670318	51458665	2009	16392											
ELAVL1	1994	genome.wustl.edu	37	chr19	8028566	8028566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacggcccaaacatctgcCagaggatcccctcgtcggca	11	5	9	16	3	1	1	0	0	1	1	4	2	2	2	4	3	3	1	4	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:8028566C>A	ENST00000407627.2	-	6	911	c.782G>T	c.(781-783)tGg>tTg	p.W261L	ELAVL1_ENST00000351593.5_Missense_Mutation_p.W288L|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Missense_Mutation_p.W261L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	261	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACATCTGCCAGAGGATCCC	0.557																																																	0													111	95	100					19																	8028566		2203	4300	6503	SO:0001583	missense	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.782G>T	19.37:g.8028566C>A	ENSP00000385269:p.Trp261Leu		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.W288L	ENST00000407627.2	37	c.863	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157050	0.78114	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.15017	2.46;2.46	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	N	0.02181	-0.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52540	-0.8562	10	0.72032	D	0.01	.	17.2498	0.87039	0.0:1.0:0.0:0.0	.	261	Q15717	ELAV1_HUMAN	L	261;288	ENSP00000385269:W261L;ENSP00000264073:W288L	ENSP00000264073:W288L	W	-	2	0	ELAVL1	7934566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.665000	0.90641	0.655000	0.94253	TGG	ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000066044		0.557	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	-	0	50	0	C	NM_001419		8028566	-1	tier1	-	no_errors	ENST00000351593	ensembl	human	known	74_37	missense	41.30	27	19	SNP	1.000	A	A	8028566	C	A	8028566	3	1	58	1	0	0	0	0	1	0	0	0	5065	595	21	3	202	3	ELAVL1	19	8028566	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	358248	8028566	51100417	2010	16393											
FBN3	84467	genome.wustl.edu	37	chr19	8153004	8153004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcacattcgaagcctcCgatgacattggtgcatgtcc	10	9	10	12	2	0	1	0	1	0	0	3	3	2	1	3	2	2	2	3	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:8153004C>T	ENST00000600128.1	-	52	6850	c.6436G>A	c.(6436-6438)Gga>Aga	p.G2146R	FBN3_ENST00000270509.2_Missense_Mutation_p.G2146R|FBN3_ENST00000601739.1_Missense_Mutation_p.G2146R			Q75N90	FBN3_HUMAN	fibrillin 3	2146	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCGAAGCCTCCGATGACATTG	0.617																																																	0													114	92	100					19																	8153004		2203	4300	6503	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6436G>A	19.37:g.8153004C>T	ENSP00000470498:p.Gly2146Arg		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G2146R	ENST00000600128.1	37	c.6436	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075964	0.36662	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.99557	-6.16	4.03	4.03	0.46877	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99245	0.9737	M	0.89904	3.07	0.80722	D	1	P	0.37398	0.593	B	0.38194	0.267	D	0.99929	1.1309	10	0.87932	D	0	.	16.1281	0.81408	0.0:1.0:0.0:0.0	.	2146	Q75N90	FBN3_HUMAN	R	2146;252	ENSP00000270509:G2146R	ENSP00000270509:G2146R	G	-	1	0	FBN3	8059004	1.000000	0.71417	0.078000	0.20375	0.017000	0.09413	5.486000	0.66856	1.951000	0.56629	0.313000	0.20887	GGA	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	68	0	C	NM_032447		8153004	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	35.19	35	19	SNP	1.000	T	T	8153004	C	T	8153004	3	4	58	1	0	0	0	0	1	0	0	0	5726	661	23	1	2045	1	FBN3	19	8153004	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	124438	8153004	50975979	2011	16394											
HNRNPM	4670	genome.wustl.edu	37	chr19	8550769	8550769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctggcgtggagcgcaTgggtgccggcatgggcttcg	3	9	19	10	4	1	0	0	0	1	0	2	1	1	1	1	6	2	4	1	6	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:8550769T>C	ENST00000325495.4	+	14	1498	c.1457T>C	c.(1456-1458)aTg>aCg	p.M486T	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M447T	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	486	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTGGAGCGCATGGGTGCCGGC	0.682																																																	0													50	51	51					19																	8550769		2200	4297	6497	SO:0001583	missense	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1457T>C	19.37:g.8550769T>C	ENSP00000325376:p.Met486Thr		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.M486T	ENST00000325495.4	37	c.1457	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165715	0.57476	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.15487	2.42;2.74	5.5	5.5	0.81552	.	0.037214	0.85682	D	0.000000	T	0.40222	0.1108	M	0.80183	2.485	0.58432	D	0.999998	P;B;D;P	0.56968	0.956;0.03;0.978;0.932	P;B;P;P	0.58391	0.549;0.014;0.647;0.838	T	0.39522	-0.9610	10	0.87932	D	0	.	14.4273	0.67225	0.0:0.0:0.0:1.0	.	326;486;447;371	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	T	486;447;371;43	ENSP00000325376:M486T;ENSP00000325732:M447T	ENSP00000325376:M486T	M	+	2	0	HNRNPM	8456769	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	5.925000	0.70062	2.082000	0.62665	0.402000	0.26972	ATG	HNRNPM	-	NULL	ENSG00000099783		0.682	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	-	0	28	0	T			8550769	1	tier1	-	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	C	C	8550769	T	C	8550769	3	2	58	1	0	0	0	0	1	0	0	0	7298	1464	51	4	1511	4	HNRNPM	19	8550769	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	397765	8550769	50578214	2012	16395											
MUC16	94025	genome.wustl.edu	37	chr19	9069367	9069367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggattgagacagaggAatgtagtttatgcatagaat	14	11	14	2	0	0	3	0	1	0	3	0	7	0	6	0	3	1	3	0	3	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9069367A>G	ENST00000397910.4	-	3	18282	c.18079T>C	c.(18079-18081)Tcc>Ccc	p.S6027P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6029	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACAGAGGAATGTAGTTTA	0.453																																																	0													200	206	204					19																	9069367		1978	4162	6140	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18079T>C	19.37:g.9069367A>G	ENSP00000381008:p.Ser6027Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6027P	ENST00000397910.4	37	c.18079	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	7.779	0.709013	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.38722	1.12	1.22	1.22	0.21188	.	.	.	.	.	T	0.49592	0.1566	L	0.48642	1.525	.	.	.	D	0.69078	0.997	D	0.71184	0.972	T	0.56086	-0.8037	8	0.87932	D	0	.	4.6502	0.12591	1.0:0.0:0.0:0.0	.	6027	B5ME49	.	P	6027	ENSP00000381008:S6027P	ENSP00000381008:S6027P	S	-	1	0	MUC16	8930367	0.000000	0.05858	0.050000	0.19076	0.346000	0.29079	0.319000	0.19522	0.817000	0.34445	0.138000	0.15974	TCC	MUC16	-	NULL	ENSG00000181143		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	24	0	A	NM_024690		9069367	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.240	G	G	9069367	A	G	9069367	3	3	58	1	0	0	0	0	1	0	0	0	10011	246	9	4	25772	4	MUC16	19	9069367	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	518598	9069367	50059616	2013	16396											
MUC16	94025	genome.wustl.edu	37	chr19	9089043	9089043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttgtaactgaggtactGctcgtagctctgagctcact	8	13	11	9	1	2	2	1	2	1	0	3	3	2	2	0	1	5	7	0	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9089043G>T	ENST00000397910.4	-	1	2975	c.2772C>A	c.(2770-2772)agC>agA	p.S924R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	924	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGTACTGCTCGTAGCTC	0.498																																																	0													96	98	97					19																	9089043		1972	4167	6139	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2772C>A	19.37:g.9089043G>T	ENSP00000381008:p.Ser924Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S924R	ENST00000397910.4	37	c.2772	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.967	-0.213357	0.06140	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.55	-2.8	0.05823	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.20052	0.041	B	0.11329	0.006	T	0.47169	-0.9138	8	0.87932	D	0	.	0.4946	0.00569	0.1863:0.2452:0.321:0.2475	.	924	B5ME49	.	R	924	ENSP00000381008:S924R	ENSP00000381008:S924R	S	-	3	2	MUC16	8950043	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.027000	0.13621	-0.686000	0.05170	0.205000	0.17691	AGC	MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	70	0	G	NM_024690		9089043	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	41.33	44	31	SNP	0.000	T	T	9089043	G	T	9089043	3	4	58	1	0	0	0	0	1	0	0	0	10011	1310	46	3	41087	3	MUC16	19	9089043	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	19676	9089043	50039940	2014	16397											
OR7D2	162998	genome.wustl.edu	37	chr19	9296598	9296598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacctgctcatcatcctGgccatcagctctgactccca	9	9	7	16	0	4	1	3	1	1	0	6	2	6	2	4	2	3	2	4	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9296598G>T	ENST00000344248.2	+	1	320	c.141G>T	c.(139-141)ctG>ctT	p.L47L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	47					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCATCATCCTGGCCATCAGCT	0.537																																																	0													105	97	99					19																	9296598		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.141G>T	19.37:g.9296598G>T			Q6IFJ7|Q8N133	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L47	ENST00000344248.2	37	c.141	CCDS32900.1	19																																																																																			OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188000		0.537	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	-	0	81	0	G			9296598	1	tier1	-	no_errors	ENST00000344248	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.993	T	T	9296598	G	T	9296598	2	4	58	1	0	0	0	0	0	0	0	1	11258	1335	47	3		3	OR7D2	19	9296598	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	207555	9296598	49832385	2015	16398											
ZNF699	374879	genome.wustl.edu	37	chr19	9413157	9413157	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggtaaagtccacagcCacatcctcaaagactactga	13	8	7	13	0	1	2	1	1	0	1	4	2	4	2	4	1	2	1	4	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9413157C>A	ENST00000591998.1	-	3	300	c.72G>T	c.(70-72)gtG>gtT	p.V24V	ZNF699_ENST00000588336.1_5'UTR|ZNF699_ENST00000308650.3_Silent_p.V24V			Q32M78	ZN699_HUMAN	zinc finger protein 699	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTCCACAGCCACATCCTCAA	0.463																																																	0													100	100	100					19																	9413157		2203	4300	6503	SO:0001819	synonymous_variant	0			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.72G>T	19.37:g.9413157C>A			Q8N9A1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V24	ENST00000591998.1	37	c.72	CCDS42495.1	19																																																																																			ZNF699	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196110		0.463	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	-	0	102	0	C	NM_198535		9413157	-1	tier1	-	no_errors	ENST00000308650	ensembl	human	known	74_37	silent	45.28	58	48	SNP	1.000	A	A	9413157	C	A	9413157	2	1	58	1	0	0	0	0	0	0	0	1	18149	581	21	3		3	ZNF699	19	9413157	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	116559	9413157	49715826	2016	16399											
ZGLP1	100125288	genome.wustl.edu	37	chr19	10419281	10419281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactcctgggtttagccGgccagggggttccaacttgg	5	10	16	10	1	0	1	0	1	0	0	2	1	2	1	4	6	2	2	4	6	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10419281G>A	ENST00000403903.3	-	1	1275	c.77C>T	c.(76-78)cCg>cTg	p.P26L	CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	26					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGGTTTAGCCGGCCAGGGGGT	0.592																																																	0													33	38	36					19																	10419281		1902	4111	6013	SO:0001583	missense	0			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"GATA zinc finger domain containing"	37245	protein-coding gene	gene with protein product	"GATA like protein 1", "GATA zinc finger domain containing 3"	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.77C>T	19.37:g.10419281G>A	ENSP00000384434:p.Pro26Leu			Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	p.P26L	ENST00000403903.3	37	c.77	CCDS45959.1	19	.	.	.	.	.	.	.	.	.	.	G	8.010	0.757414	0.15846	.	.	ENSG00000220201	ENST00000403903	D	0.98207	-4.79	1.96	-2.78	0.05859	.	.	.	.	.	D	0.91314	0.7261	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.84483	0.0606	9	0.72032	D	0.01	-3.3472	4.3504	0.11153	0.163:0.4541:0.3829:0.0	.	26	P0C6A0	ZGLP1_HUMAN	L	26	ENSP00000384434:P26L	ENSP00000384434:P26L	P	-	2	0	ZGLP1	10280281	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.822000	0.27352	-0.496000	0.06650	-0.502000	0.04539	CCG	ZGLP1	-	NULL	ENSG00000220201		0.592	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZGLP1	HGNC	protein_coding	OTTHUMT00000325278.1	-	0	61	0	G	NM_001103167		10419281	-1	tier1	-	no_errors	ENST00000403903	ensembl	human	known	74_37	missense	53.42	34	39	SNP	0.000	A	A	10419281	G	A	10419281	3	1	58	1	0	0	0	0	1	0	0	0	17721	1116	39	1	754	1	ZGLP1	19	10419281	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1006124	10419281	48709702	2017	16400											
RAVER1	125950	genome.wustl.edu	37	chr19	10434093	10434093	+	Frame_Shift_Del	DEL	G	G	-																															gcggccagcatactgcggccGgggggcccaggggcgcagaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10434093delG	ENST00000293677.6	-	4	1038	c.957delC	c.(955-957)cccfs	p.P319fs	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	302	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACTGCGGCCGGGGGGCCCAG	0.716																																																	0													10	14	12					19																	10434093		1946	4134	6080	SO:0001589	frameshift_variant	0				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.957delC	19.37:g.10434093delG	ENSP00000293677:p.Pro319fs		A6NMU4|Q8IY60|Q8TF24	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G320fs	ENST00000293677.6	37	c.957	CCDS45960.1	19																																																																																			RAVER1	-	NULL	ENSG00000161847		0.716	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1		0	35	0	G	NM_133452		10434093	-1	tier1		no_errors	ENST00000293677	ensembl	human	known	74_37	frame_shift_del	43.48	13	10	DEL	0.211	-	-	10434093	G	-	10434093	7	5	58	1	0	1	0	1	0	0	0	0	13139	1103	39	0	1353	0	RAVER1	19	10434093	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	14812	10434093	48694890	2018	16401											
TYK2	7297	genome.wustl.edu	37	chr19	10468442	10468442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggtctcctagacatacctCggagggactgcggctctgca	8	8	13	12	2	2	1	0	0	2	1	4	3	2	3	2	4	3	2	2	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10468442C>T	ENST00000525621.1	-	17	2945	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	TYK2_ENST00000524462.1_Missense_Mutation_p.E637K|TYK2_ENST00000264818.6_Missense_Mutation_p.E822K|TYK2_ENST00000529370.1_Missense_Mutation_p.E822K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	822	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATACCTCGGAGGGACTG	0.617																																																	0													19	19	19					19																	10468442		2202	4296	6498	SO:0001583	missense	0				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2464G>A	19.37:g.10468442C>T	ENSP00000431885:p.Glu822Lys		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E822K	ENST00000525621.1	37	c.2464	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469106	0.63625	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.76	4.76	0.60689	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000082	D	0.89518	0.6738	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.974	D	0.87603	0.2498	10	0.28530	T	0.3	-33.425	15.3023	0.73962	0.0:1.0:0.0:0.0	.	822;822	E9PPF2;P29597	.;TYK2_HUMAN	K	637;822;822;569;822	ENSP00000433203:E637K;ENSP00000431885:E822K;ENSP00000264818:E822K;ENSP00000432728:E822K	ENSP00000264818:E822K	E	-	1	0	TYK2	10329442	1.000000	0.71417	0.944000	0.38274	0.066000	0.16364	6.920000	0.75799	2.465000	0.83290	0.655000	0.94253	GAG	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105397		0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	-	0	66	0	C			10468442	-1	tier1	-	no_errors	ENST00000264818	ensembl	human	known	74_37	missense	42.37	34	25	SNP	0.998	T	T	10468442	C	T	10468442	3	4	58	1	0	0	0	0	1	0	0	0	16859	893	31	1	1135	1	TYK2	19	10468442	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	34349	10468442	48660541	2019	16402											
KEAP1	9817	genome.wustl.edu	37	chr19	10610581	10610581	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgccatgctgggagggCgtcacctccgccttgcactc	4	9	13	15	3	1	0	1	0	0	0	3	1	2	1	4	3	3	3	4	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10610581C>T	ENST00000171111.5	-	2	676	c.129G>A	c.(127-129)acG>acA	p.T43T	KEAP1_ENST00000393623.2_Silent_p.T43T|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	43					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCTGGGAGGGCGTCACCTCCG	0.642																																																	0													129	102	111					19																	10610581		2203	4300	6503	SO:0001819	synonymous_variant	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.129G>A	19.37:g.10610581C>T			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T43	ENST00000171111.5	37	c.129	CCDS12239.1	19																																																																																			KEAP1	-	pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.642	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0	59	0	C	NM_012289		10610581	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.979	T	T	10610581	C	T	10610581	2	4	58	1	0	0	0	0	0	0	0	1	8168	755	27	1		1	KEAP1	19	10610581	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	142139	10610581	48518402	2020	16403											
KRI1	65095	genome.wustl.edu	37	chr19	10668530	10668530	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcaagggggcctcgcgCtttttcttcctcggctggct	2	12	12	15	4	2	0	1	0	1	0	5	0	3	0	3	4	0	3	3	4	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10668530C>T	ENST00000312962.6	-	15	1438	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	KRI1_ENST00000361821.5_Silent_p.K469K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	467						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGCCTCGCGCTTTTTCTTCC	0.682																																																	0													30	33	32					19																	10668530		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1419G>A	19.37:g.10668530C>T			Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	pfam_KRR1-interact_protein_1	p.K473	ENST00000312962.6	37	c.1419	CCDS12242.1	19																																																																																			KRI1	-	pfam_KRR1-interact_protein_1	ENSG00000129347		0.682	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000317705.1	-	0	42	0	C	NM_023008		10668530	-1	tier1	-	no_errors	ENST00000312962	ensembl	human	known	74_37	silent	24.39	31	10	SNP	0.003	T	T	10668530	C	T	10668530	2	4	58	1	0	0	0	0	0	0	0	1	8471	796	28	3		3	KRI1	19	10668530	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	57949	10668530	48460453	2021	16404											
SLC44A2	57153	genome.wustl.edu	37	chr19	10745884	10745886	+	In_Frame_Del	DEL	CTT	CTT	-																															ttgctctacccactggtcacCttcttcttgctgtgcctctg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10745884_10745886delCTT	ENST00000335757.5	+	13	1477_1479	c.1101_1103delCTT	c.(1099-1104)accttc>acc	p.F369del	SLC44A2_ENST00000586078.1_In_Frame_Del_p.F369del|SLC44A2_ENST00000407327.4_In_Frame_Del_p.F367del			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	369					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CACTGGTCACCTTCTTCTTGCTG	0.557																																																	0									,	1,4263		0,1,2131					,	4.6	1			174	1,8251		0,1,4125	no	coding,coding	SLC44A2	NM_020428.3,NM_001145056.1	,	0,2,6256	A1A1,A1R,RR		0.0121,0.0235,0.016	,	,		2,12514				SO:0001651	inframe_deletion	0			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1101_1103delCTT	19.37:g.10745890_10745892delCTT	ENSP00000336888:p.Phe369del		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	In_Frame_Del	DEL	pfam_Choline_transptr-like	p.F369in_frame_del	ENST00000335757.5	37	c.1101_1103	CCDS12245.1	19																																																																																			SLC44A2	-	pfam_Choline_transptr-like	ENSG00000129353		0.557	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1		0	162	0	CTT			10745886	1	tier1		no_errors	ENST00000335757	ensembl	human	known	74_37	in_frame_del	47.18	75	67	DEL	1.000:1.000:1.000	-	-	10745886	CTT	-	10745884	7	5	58	1	0	1	0	1	0	0	0	0	14681	668	24	0	1186	0	SLC44A2	19	10745884	In_Frame_Del	DEL	CTT	TCGA-L5-A4OI-01A-11D-A27G-09	77354	10745884	48383099	2022	16405											
CARM1	10498	genome.wustl.edu	37	chr19	11032065	11032065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagccaacacggggattGtcaatcacacccactcccgg	10	5	10	16	3	2	0	2	0	0	0	3	1	3	1	3	3	2	1	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11032065G>A	ENST00000327064.4	+	15	1820	c.1630G>A	c.(1630-1632)Gtc>Atc	p.V544I	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	544	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CACGGGGATTGTCAATCACAC	0.657																																																	0													105	108	107					19																	11032065		2203	4300	6503	SO:0001583	missense	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"Protein arginine methyltransferases"	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1630G>A	19.37:g.11032065G>A	ENSP00000325690:p.Val544Ile		A6NN38	Missense_Mutation	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11	p.V544I	ENST00000327064.4	37	c.1630	CCDS12250.1	19	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107196	0.56291	.	.	ENSG00000142453	ENST00000327064	T	0.26660	1.72	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000008	T	0.19725	0.0474	N	0.25647	0.755	0.80722	D	1	P	0.36683	0.565	B	0.36378	0.223	T	0.04708	-1.0932	10	0.26408	T	0.33	-7.7259	16.0448	0.80714	0.0:0.0:1.0:0.0	.	544	Q86X55	CARM1_HUMAN	I	544	ENSP00000325690:V544I	ENSP00000325690:V544I	V	+	1	0	CARM1	10893065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.749000	0.91619	2.057000	0.61298	0.557000	0.71058	GTC	CARM1	-	NULL	ENSG00000142453		0.657	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	-	0	84	0	G	XM_032719		11032065	1	tier1	-	no_errors	ENST00000327064	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	11032065	G	A	11032065	3	1	58	1	0	0	0	0	1	0	0	0	2662	1377	48	3	1688	3	CARM1	19	11032065	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	286181	11032065	48096918	2023	16406											
SMARCA4	6597	genome.wustl.edu	37	chr19	11141498	11141498	+	Frame_Shift_Del	DEL	G	G	-																															tcctgctcagcacccgggctGgggggctcggcctgaacctc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11141498delG	ENST00000429416.3	+	26	3756	c.3475delG	c.(3475-3477)gggfs	p.G1160fs	SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000358026.2_Frame_Shift_Del_p.G1160fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1160	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CACCCGGGCTGGGGGGCTCGG	0.622			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											24	25	25					19																	11141498		2196	4299	6495	SO:0001589	frameshift_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3475delG	19.37:g.11141498delG	ENSP00000395654:p.Gly1160fs		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.L1161fs	ENST00000429416.3	37	c.3475	CCDS12253.1	19																																																																																			SMARCA4	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000127616		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2		0	70	0	G	NM_003072		11141498	1	tier1		no_errors	ENST00000358026	ensembl	human	known	74_37	frame_shift_del	29.23	46	19	DEL	1.000	-	-	11141498	G	-	11141498	7	5	58	1	0	1	0	1	0	0	0	0	14815	1348	47	0	3569	0	SMARCA4	19	11141498	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	109433	11141498	47987485	2024	16407											
ZNF653	115950	genome.wustl.edu	37	chr19	11597920	11597920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccgttgttgccagctccgGggctactggctcctccttct	3	12	10	16	2	1	0	0	0	1	0	4	0	4	0	5	3	3	5	5	3	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11597920G>T	ENST00000293771.5	-	5	1361	c.1225C>A	c.(1225-1227)Ccg>Acg	p.P409T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P409T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCCAGCTCCGGGGCTACTGGC	0.617																																					Pancreas(83;980 1446 4542 6441 43352)												1	Substitution - Missense(1)	lung(1)											68	76	74					19																	11597920		2203	4300	6503	SO:0001583	missense	0			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1225C>A	19.37:g.11597920G>T	ENSP00000293771:p.Pro409Thr		Q96AS7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P409T	ENST00000293771.5	37	c.1225	CCDS12261.1	19	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438572	0.25900	.	.	ENSG00000161914	ENST00000293771	T	0.10573	2.86	4.57	3.51	0.40186	.	0.220250	0.37261	N	0.002172	T	0.06325	0.0163	N	0.14661	0.345	0.24784	N	0.992797	B	0.30326	0.276	B	0.25614	0.062	T	0.32666	-0.9898	10	0.30078	T	0.28	-10.2539	12.0206	0.53342	0.0:0.1749:0.8251:0.0	.	409	Q96CK0	ZN653_HUMAN	T	409	ENSP00000293771:P409T	ENSP00000293771:P409T	P	-	1	0	ZNF653	11458920	0.994000	0.37717	0.859000	0.33776	0.183000	0.23260	1.608000	0.36847	1.021000	0.39600	0.561000	0.74099	CCG	ZNF653	-	NULL	ENSG00000161914		0.617	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	HGNC	protein_coding	OTTHUMT00000458836.2	-	0	63	0	G	NM_138783		11597920	-1	tier1	-	no_errors	ENST00000293771	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.944	T	T	11597920	G	T	11597920	3	4	58	1	0	0	0	0	1	0	0	0	18114	1232	43	3	642	3	ZNF653	19	11597920	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	456422	11597920	47531063	2025	16408											
ECSIT	51295	genome.wustl.edu	37	chr19	11624897	11624897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgttccccaccaggcGcctgcccaaacaggtcctca	7	7	8	19	2	1	0	1	0	0	0	4	0	4	0	7	2	2	1	7	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11624897G>A	ENST00000270517.7	-	3	371	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.A79V|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000591104.1_Missense_Mutation_p.A79V|ECSIT_ENST00000592312.1_5'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	79					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCCACCAGGCGCCTGCCCAAA	0.627																																																	0													56	53	54					19																	11624897		2203	4300	6503	SO:0001583	missense	0			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"Mitochondrial respiratory chain complex assembly factors"	29548	protein-coding gene	gene with protein product	"signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"	608388	"ECSIT homolog (Drosophila)"			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.236C>T	19.37:g.11624897G>A	ENSP00000270517:p.Ala79Val		E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	pfam_ECSIT	p.A79V	ENST00000270517.7	37	c.236	CCDS12262.1	19	.	.	.	.	.	.	.	.	.	.	g	16.02	3.004248	0.54254	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.77098	-1.07;-1.07	5.71	2.23	0.28157	.	0.367137	0.27710	N	0.018164	T	0.62295	0.2416	L	0.42529	1.33	0.20926	N	0.99983	P;P	0.42123	0.621;0.771	B;B	0.31245	0.034;0.126	T	0.51466	-0.8702	10	0.30078	T	0.28	-9.2998	9.3965	0.38406	0.0:0.2607:0.4704:0.2689	.	79;79	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	V	79	ENSP00000270517:A79V;ENSP00000252440:A79V	ENSP00000252440:A79V	A	-	2	0	ECSIT	11485897	0.338000	0.24775	0.000000	0.03702	0.023000	0.10783	1.297000	0.33400	0.283000	0.22279	0.543000	0.68304	GCG	ECSIT	-	pfam_ECSIT	ENSG00000130159		0.627	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	HGNC	protein_coding	OTTHUMT00000442603.2	-	0	49	0	G	NM_016581		11624897	-1	tier1	-	no_errors	ENST00000270517	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.010	A	A	11624897	G	A	11624897	3	1	58	1	0	0	0	0	1	0	0	0	4914	1087	38	1	1083	1	ECSIT	19	11624897	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	26977	11624897	47504086	2026	16409											
ZNF441	126068	genome.wustl.edu	37	chr19	11891613	11891613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccagttcagttcgaaGacataaaagaactcacactg	14	10	6	11	1	3	2	2	0	1	2	5	3	3	2	1	0	1	2	1	0	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11891613G>T	ENST00000357901.4	+	4	1076	c.974G>T	c.(973-975)aGa>aTa	p.R325I	ZNF441_ENST00000454339.2_Missense_Mutation_p.R258I	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGTTCGAAGACATAAAAGA	0.413																																																	0													84	84	84					19																	11891613		2203	4300	6503	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.974G>T	19.37:g.11891613G>T	ENSP00000350576:p.Arg325Ile			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R325I	ENST00000357901.4	37	c.974	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	-	11.77	1.736514	0.30774	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07567	3.18;3.18	1.18	-2.36	0.06663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05227	0.0139	L	0.33710	1.025	0.09310	N	0.999999	B	0.17667	0.023	B	0.10450	0.005	T	0.39313	-0.9620	9	0.30078	T	0.28	.	2.6733	0.05074	0.4272:0.0:0.2239:0.3488	.	325	Q8N8Z8	ZN441_HUMAN	I	281;325;258	ENSP00000350576:R325I;ENSP00000403738:R258I	ENSP00000350576:R325I	R	+	2	0	ZNF441	11752613	0.000000	0.05858	0.001000	0.08648	0.939000	0.58152	-10.325000	0.00007	-1.907000	0.01087	0.298000	0.19748	AGA	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.413	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	-	0	71	0	G	NM_152355		11891613	1	tier1	-	no_errors	ENST00000357901	ensembl	human	known	74_37	missense	6.90	81	6	SNP	0.003	T	T	11891613	G	T	11891613	3	4	58	1	0	0	0	0	1	0	0	0	17962	942	33	3	988	3	ZNF441	19	11891613	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	266716	11891613	47237370	2027	16410											
ZNF440	126070	genome.wustl.edu	37	chr19	11941145	11941145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacttcacccaggaggaGtgggctttgctggatatttc	8	12	13	8	0	1	1	1	1	0	0	2	4	1	4	1	4	2	2	1	4	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11941145G>T	ENST00000304060.5	+	2	215	c.51G>T	c.(49-51)gaG>gaT	p.E17D		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCAGGAGGAGTGGGCTTTGC	0.478																																																	0													128	135	132					19																	11941145		2203	4300	6503	SO:0001583	missense	0			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"Zinc fingers, C2H2-type", "-"	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.51G>T	19.37:g.11941145G>T	ENSP00000305373:p.Glu17Asp		Q8N1R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E17D	ENST00000304060.5	37	c.51	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	g	13.84	2.357886	0.41801	.	.	ENSG00000171295	ENST00000304060;ENST00000427505;ENST00000414255	T;T;T	0.11169	2.8;2.8;2.8	1.74	0.617	0.17619	Krueppel-associated box (4);	.	.	.	.	T	0.43122	0.1233	H	0.97852	4.09	0.25544	N	0.987152	D	0.89917	1.0	D	0.91635	0.999	T	0.21449	-1.0245	9	0.87932	D	0	.	5.8263	0.18556	0.1805:0.0:0.8195:0.0	.	17	Q8IYI8	ZN440_HUMAN	D	17;20;19	ENSP00000305373:E17D;ENSP00000393489:E20D;ENSP00000411974:E19D	ENSP00000305373:E17D	E	+	3	2	ZNF440	11802145	1.000000	0.71417	0.343000	0.25615	0.033000	0.12548	0.262000	0.18460	0.083000	0.17047	-1.054000	0.02325	GAG	ZNF440	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171295		0.478	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	0	167	0	G	NM_152357		11941145	1	tier1	-	no_errors	ENST00000304060	ensembl	human	known	74_37	missense	41.49	110	78	SNP	0.997	T	T	11941145	G	T	11941145	3	4	58	1	0	0	0	0	1	0	0	0	17961	1020	36	3	57	3	ZNF440	19	11941145	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	49532	11941145	47187838	2028	16411											
ZNF791	163049	genome.wustl.edu	37	chr19	12738936	12738936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgtggaaaagctcttaGttgttccagttcgcttcgag	9	13	11	8	2	1	0	0	0	1	0	4	2	2	1	1	1	1	6	1	1	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:12738936G>T	ENST00000343325.4	+	4	755	c.593G>T	c.(592-594)aGt>aTt	p.S198I	ZNF791_ENST00000540038.1_Missense_Mutation_p.S89I|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.S166I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAGCTCTTAGTTGTTCCAGT	0.408																																																	0													64	66	65					19																	12738936		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.593G>T	19.37:g.12738936G>T	ENSP00000342974:p.Ser198Ile		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S198I	ENST00000343325.4	37	c.593	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	0.743	-0.775803	0.02951	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.05025	3.51;3.51;3.51	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.17278	0.47	0.09310	N	0.999999	P	0.37864	0.61	B	0.31686	0.134	T	0.44620	-0.9316	9	0.27082	T	0.32	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	198	Q3KP31	ZN791_HUMAN	I	198;180;166;89	ENSP00000342974:S198I;ENSP00000441761:S166I;ENSP00000441038:S89I	ENSP00000342974:S198I	S	+	2	0	ZNF791	12599936	0.000000	0.05858	0.067000	0.19924	0.531000	0.34715	-0.369000	0.07533	1.007000	0.39238	0.491000	0.48974	AGT	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0	67	0	G	NM_153358		12738936	1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.009	T	T	12738936	G	T	12738936	3	4	58	1	0	0	0	0	1	0	0	0	18211	1029	36	3	607	3	ZNF791	19	12738936	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	797791	12738936	46390047	2029	16412											
TNPO2	30000	genome.wustl.edu	37	chr19	12825713	12825713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaactcacaggcctcaaggGcaacgttctcatcatggtcc	11	8	9	13	1	4	1	4	0	1	1	6	1	5	1	2	3	2	2	2	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:12825713G>T	ENST00000592287.1	-	9	920	c.812C>A	c.(811-813)gCc>gAc	p.A271D	TNPO2_ENST00000450764.2_Missense_Mutation_p.A271D|TNPO2_ENST00000356861.5_Missense_Mutation_p.A271D|TNPO2_ENST00000441499.1_Missense_Mutation_p.A271D|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.A271D|TNPO2_ENST00000425528.1_Missense_Mutation_p.A271D	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	271					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCTCAAGGGCAACGTTCTC	0.637																																																	0													132	140	137					19																	12825713		2142	4234	6376	SO:0001583	missense	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.812C>A	19.37:g.12825713G>T	ENSP00000468434:p.Ala271Asp		O14655|Q6IN77	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.A271D	ENST00000592287.1	37	c.812	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379052	0.82682	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.052312	0.85682	D	0.000000	D	0.86443	0.5934	M	0.92555	3.32	0.80722	D	1	D;P	0.76494	0.999;0.773	D;D	0.81914	0.995;0.918	D	0.89265	0.3600	10	0.87932	D	0	-23.306	18.4881	0.90836	0.0:0.0:1.0:0.0	.	435;271	Q4LE60;O14787	.;TNPO2_HUMAN	D	435;271;271;271;271;271;271	ENSP00000407182:A271D;ENSP00000389648:A271D;ENSP00000397379:A271D;ENSP00000349321:A271D	ENSP00000349321:A271D	A	-	2	0	TNPO2	12686713	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.392000	0.97252	2.673000	0.90976	0.650000	0.86243	GCC	TNPO2	-	superfamily_ARM-type_fold	ENSG00000105576		0.637	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	-	0	85	0	G	NM_013433		12825713	-1	tier1	-	no_errors	ENST00000425528	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	12825713	G	T	12825713	3	4	58	1	0	0	0	0	1	0	0	0	16383	1203	42	3	1945	3	TNPO2	19	12825713	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	86777	12825713	46303270	2030	16413											
GIPC1	10755	genome.wustl.edu	37	chr19	14590322	14590322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcggccacccgctgaacGctggctgatcatgtctgtgg	6	8	15	12	3	2	2	1	2	1	0	2	2	2	2	2	4	1	3	2	4	1	0	rs564587407		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:14590322G>A	ENST00000393033.4	-	7	939	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	GIPC1_ENST00000393028.1_Missense_Mutation_p.R127C|GIPC1_ENST00000345425.2_Missense_Mutation_p.R224C|GIPC1_ENST00000591349.1_Missense_Mutation_p.R127C|GIPC1_ENST00000586027.1_Missense_Mutation_p.R224C|GIPC1_ENST00000393029.3_Missense_Mutation_p.R127C	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	224					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCCGCTGAACGCTGGCTGATC	0.652													G|||	1	0.000199681	8e-04	0	5008	,	,		14333	0		0	False		,,,				2504	0				Pancreas(33;78 923 2910 41023 52850)												0													10	11	11					19																	14590322		2167	4257	6424	SO:0001583	missense	0			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.670C>T	19.37:g.14590322G>A	ENSP00000376753:p.Arg224Cys		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.R224C	ENST00000393033.4	37	c.670	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053466	0.36181	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	D;D;D;D	0.87966	-1.77;-1.77;-2.32;-2.32	4.3	1.74	0.24563	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	D	0.93293	0.6670	10	0.87932	D	0	-20.1706	11.6687	0.51389	0.0:0.0:0.6709:0.3291	.	224	O14908	GIPC1_HUMAN	C	224;224;127;127;224	ENSP00000376753:R224C;ENSP00000340698:R224C;ENSP00000376749:R127C;ENSP00000376748:R127C	ENSP00000340698:R224C	R	-	1	0	GIPC1	14451322	0.002000	0.14202	0.110000	0.21437	0.074000	0.17049	0.001000	0.13038	0.773000	0.33404	0.561000	0.74099	CGT	GIPC1	-	superfamily_PDZ,pirsf_UCP038083_PDZ	ENSG00000123159		0.652	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	-	0	32	0	G			14590322	-1	tier1	-	no_errors	ENST00000345425	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.995	A	A	14590322	G	A	14590322	3	1	58	1	0	0	0	0	1	0	0	0	6418	1087	38	1	343	1	GIPC1	19	14590322	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1764609	14590322	44538661	2031	16414											
OR7C2	26658	genome.wustl.edu	37	chr19	15052470	15052470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagactcccacctccacaCccccatgtacttcttcctct	7	12	2	20	0	3	1	1	0	2	1	6	1	6	1	6	0	1	1	6	0	1	4	rs139042107		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:15052470C>T	ENST00000248072.3	+	1	170	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T57I(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CACCTCCACACCCCCATGTAC	0.498																																																	1	Substitution - Missense(1)	skin(1)											97	82	87					19																	15052470		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"GPCR / Class A : Olfactory receptors"	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.170C>T	19.37:g.15052470C>T	ENSP00000248072:p.Thr57Ile		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T57I	ENST00000248072.3	37	c.170	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	c	11.03	1.517525	0.27123	.	.	ENSG00000127529	ENST00000248072	T	0.03580	3.88	4.19	-2.2	0.06994	GPCR, rhodopsin-like superfamily (1);	0.387744	0.18657	U	0.134828	T	0.04907	0.0132	M	0.82056	2.57	0.09310	N	1	B	0.34290	0.447	B	0.31337	0.128	T	0.18745	-1.0327	10	0.72032	D	0.01	.	4.6028	0.12361	0.1432:0.5083:0.0:0.3485	.	57	O60412	OR7C2_HUMAN	I	57	ENSP00000248072:T57I	ENSP00000248072:T57I	T	+	2	0	OR7C2	14913470	0.000000	0.05858	0.019000	0.16419	0.862000	0.49288	-0.537000	0.06128	-0.345000	0.08325	0.514000	0.50259	ACC	OR7C2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127529		0.498	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	-	0	71	0	C			15052470	1	tier1	rs139042107	no_errors	ENST00000248072	ensembl	human	known	74_37	missense	37.31	42	25	SNP	0.003	T	T	15052470	C	T	15052470	3	4	58	1	0	0	0	0	1	0	0	0	11257	507	18	3	172	3	OR7C2	19	15052470	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	462148	15052470	44076513	2032	16415											
CCDC105	126402	genome.wustl.edu	37	chr19	15122081	15122081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgcgcagcaccagattaaCgggcgggtgcgacagctgct	8	5	15	13	6	0	1	0	0	0	1	0	2	0	1	1	2	5	4	1	2	1	1	rs537607141		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:15122081C>T	ENST00000292574.3	+	1	526	c.444C>T	c.(442-444)aaC>aaT	p.N148N	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	148						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ACCAGATTAACGGGCGGGTGC	0.701																																																	0													4	5	5					19																	15122081		1873	4020	5893	SO:0001819	synonymous_variant	0			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.444C>T	19.37:g.15122081C>T			Q8N7T5|Q8NDL5	Silent	SNP	pfam_Tektin	p.N148	ENST00000292574.3	37	c.444	CCDS12322.1	19																																																																																			CCDC105	-	pfam_Tektin	ENSG00000160994		0.701	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	HGNC	protein_coding	OTTHUMT00000466293.1		0	17	0	C	NM_173482		15122081	1			no_errors	ENST00000292574	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.046	T	T	15122081	C	T	15122081	2	4	58	1	0	0	0	0	0	0	0	1	2747	535	19	1		1	CCDC105	19	15122081	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	69611	15122081	44006902	2033	16416											
BRD4	23476	genome.wustl.edu	37	chr19	15376314	15376314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatgacaggggtctggaCgatgaggtccggggtgacgg	7	8	19	7	3	2	3	1	3	1	0	3	5	3	4	1	7	0	0	1	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:15376314C>T	ENST00000263377.2	-	5	921	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.V234I|BRD4_ENST00000371835.4_Missense_Mutation_p.V234I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	234					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGGTCTGGACGATGAGGTCC	0.692			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													87	97	94					19																	15376314		2203	4300	6503	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.700G>A	19.37:g.15376314C>T	ENSP00000263377:p.Val234Ile		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V234I	ENST00000263377.2	37	c.700	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	6.007	0.369762	0.11352	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.27720	1.65;3.31;3.27	5.28	4.23	0.50019	.	0.227360	0.30410	N	0.009693	T	0.16171	0.0389	N	0.12746	0.255	0.23950	N	0.996374	B;B;B	0.12630	0.002;0.006;0.002	B;B;B	0.08055	0.001;0.003;0.001	T	0.10683	-1.0619	10	0.27785	T	0.31	-14.9802	10.2086	0.43128	0.0:0.8402:0.0:0.1598	.	234;234;234	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	I	234	ENSP00000263377:V234I;ENSP00000360901:V234I;ENSP00000353112:V234I	ENSP00000263377:V234I	V	-	1	0	BRD4	15237314	0.996000	0.38824	0.999000	0.59377	0.983000	0.72400	1.243000	0.32767	2.630000	0.89119	0.462000	0.41574	GTC	BRD4	-	NULL	ENSG00000141867		0.692	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	0	100	0	C	NM_058243		15376314	-1	tier1	-	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	41.89	43	31	SNP	1.000	T	T	15376314	C	T	15376314	3	4	58	1	0	0	0	0	1	0	0	0	1508	536	19	1	3467	1	BRD4	19	15376314	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	254233	15376314	43752669	2034	16417											
AP1M1	8907	genome.wustl.edu	37	chr19	16314384	16314384	+	Frame_Shift_Del	DEL	G	G	-																															tgtcgcccatcctggcccacGggggggtccgtttcatgtgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16314384delG	ENST00000291439.3	+	2	606	c.157delG	c.(157-159)gggfs	p.G54fs	AP1M1_ENST00000429941.2_Frame_Shift_Del_p.G54fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Del_p.G54fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCTGGCCCACGGGGGGGTCCG	0.592																																																	0													95	86	89					19																	16314384		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.157delG	19.37:g.16314384delG	ENSP00000291439:p.Gly54fs		Q4TTY5	Frame_Shift_Del	DEL	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.V55fs	ENST00000291439.3	37	c.157	CCDS12342.1	19																																																																																			AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000072958		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1		0	79	0	G	NM_032493		16314384	1	tier1		no_errors	ENST00000444449	ensembl	human	known	74_37	frame_shift_del	27.59	63	24	DEL	1.000	-	-	16314384	G	-	16314384	7	5	58	1	0	1	0	1	0	0	0	0	734	1116	39	0	163	0	AP1M1	19	16314384	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	938070	16314384	42814599	2035	16418											
EPS15L1	58513	genome.wustl.edu	37	chr19	16472690	16472690	+	Frame_Shift_Del	DEL	T	T	-																															taaacgggtccccaaaccccTttttactttggaacgggtcg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16472690delT	ENST00000248070.6	-	23	2625	c.2486delA	c.(2485-2487)aagfs	p.K829fs	EPS15L1_ENST00000535753.2_3'UTR|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.K829fs	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	829	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCCAAACCCCTTTTTACTTTG	0.567																																																	0													42	49	46					19																	16472690		2203	4300	6503	SO:0001589	frameshift_variant	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2486delA	19.37:g.16472690delT	ENSP00000248070:p.Lys829fs		A2RRF3|A5PL29|B4DKA3	Frame_Shift_Del	DEL	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.K829fs	ENST00000248070.6	37	c.2486	CCDS32944.1	19																																																																																			EPS15L1	-	NULL	ENSG00000127527		0.567	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1		0	71	0	T	NM_021235		16472690	-1	tier1		no_errors	ENST00000455140	ensembl	human	known	74_37	frame_shift_del	32.47	52	25	DEL	1.000	-	-	16472690	T	-	16472690	7	5	58	1	0	1	0	1	0	0	0	0	5209	1609	56	0	112	0	EPS15L1	19	16472690	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	158306	16472690	42656293	2036	16419											
CHERP	84167	genome.wustl.edu	37	chr19	16633994	16633994	+	IGR	DEL	G	G	-																															gggctgcccgttgaagccatGggggggagggccgaagtcag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16633994delG	ENST00000221671.3	+	0	3427				CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Frame_Shift_Del_p.H628fs|CHERP_ENST00000546361.2_Frame_Shift_Del_p.H617fs|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTGAAGCCATGGGGGGGAGGG	0.672																																																	0													42	54	50					19																	16633994		2110	4229	6339	SO:0001628	intergenic_variant	0			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16633994delG			Q8N6Y7	Frame_Shift_Del	DEL	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.H617fs	ENST00000221671.3	37	c.1849	CCDS12345.1	19																																																																																			CHERP	-	NULL	ENSG00000085872		0.672	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000461218.1		0	33	0	G	NM_032207		16633994	-1	tier1		no_errors	ENST00000546361	ensembl	human	known	74_37	frame_shift_del	45.71	19	16	DEL	0.998	-	-	16633994	G	-	16633994	6	5	58	0	1	1	0	1	0	0	0	0	3343	1348	47	0		0	CHERP	19	16633994	IGR	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	161304	16633994	42494989	2037	16420											
SLC35E1	79939	genome.wustl.edu	37	chr19	16666161	16666161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcaaagttacagaagccGctgacagccaggagcaggag	13	4	15	9	1	0	2	0	1	0	1	0	4	0	4	2	3	4	4	2	3	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16666161G>A	ENST00000595753.1	-	5	821	c.804C>T	c.(802-804)agC>agT	p.S268S	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	268					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TACAGAAGCCGCTGACAGCCA	0.572																																																	0													65	52	56					19																	16666161		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"Solute carriers"	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.804C>T	19.37:g.16666161G>A			Q8NBQ2|Q96JV7	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA	p.S268	ENST00000595753.1	37	c.804	CCDS12346.2	19																																																																																			SLC35E1	-	pfam_Tpt_PEP_trans_dom,pfam_UAA	ENSG00000127526		0.572	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	-	0	81	0	G	NM_024881		16666161	-1	tier1	-	no_errors	ENST00000595753	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.328	A	A	16666161	G	A	16666161	2	1	58	1	0	0	0	0	0	0	0	1	14629	1078	38	1		1	SLC35E1	19	16666161	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	32167	16666161	42462822	2038	16421											
MED26	9441	genome.wustl.edu	37	chr19	16687924	16687925	+	Frame_Shift_Ins	INS	-	-	G																															ttggctgcaagcagggtccaINSgggggcttgcccaggcccgg																								rs375978551		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16687924_16687925insG	ENST00000263390.3	-	3	978_979	c.716_717insC	c.(715-717)cctfs	p.P239fs	CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Ins_p.P247fs|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	239	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AGCAGGGTCCAGGGGGCTTGCC	0.678																																																	0																																										SO:0001589	frameshift_variant	0			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.717dupC	19.37:g.16687929_16687929dupG	ENSP00000263390:p.Pro239fs		A1A4S3|Q0VGB6	Frame_Shift_Ins	INS	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.G240fs	ENST00000263390.3	37	c.717_716	CCDS12347.1	19																																																																																			MED26	-	NULL	ENSG00000105085		0.678	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED26	HGNC	protein_coding	OTTHUMT00000461178.1		0	21	0	-	NM_004831		16687925	-1	tier1		no_errors	ENST00000263390	ensembl	human	known	74_37	frame_shift_ins	40.00	9	6	INS	0.775:0.991	G	G	16687925	-	G	16687924	7	5	58	1	0	1	1	0	0	0	0	0	9482	175	7	0	1089	0	MED26	19	16687924	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	21763	16687924	42441059	2039	16422											
USHBP1	83878	genome.wustl.edu	37	chr19	17374897	17374898	+	Frame_Shift_Ins	INS	-	-	T																															gaggtggggcaaagctgggcINSttggagctcccactggctgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:17374897_17374898insT	ENST00000252597.3	-	3	289_290	c.116_117insA	c.(115-117)aagfs	p.K39fs	USHBP1_ENST00000431146.2_Intron|USHBP1_ENST00000598570.1_Intron	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CAAAGCTGGGCTTGGAGCTCCC	0.658																																																	0																																										SO:0001589	frameshift_variant	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.117dupA	19.37:g.17374899_17374899dupT	ENSP00000252597:p.Lys39fs			Frame_Shift_Ins	INS	pfam_USH1C-bd_PDZ_domain	p.P40fs	ENST00000252597.3	37	c.117_116	CCDS12353.1	19																																																																																			USHBP1	-	NULL	ENSG00000130307		0.658	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1		0	73	0	-	NM_031941		17374898	-1	tier1		no_errors	ENST00000252597	ensembl	human	known	74_37	frame_shift_ins	26.98	46	17	INS	0.000:0.000	T	T	17374898	-	T	17374897	7	5	58	1	0	1	1	0	0	0	0	0	17086	796	28	0	2038	0	USHBP1	19	17374897	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	686973	17374897	41754086	2040	16423											
PLVAP	83483	genome.wustl.edu	37	chr19	17487856	17487856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttggtcaagttggacTgggaggccgtgagccctagg	6	9	16	10	1	1	1	1	1	0	0	2	3	2	3	3	5	1	2	3	5	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:17487856T>C	ENST00000252590.4	-	1	303	c.242A>G	c.(241-243)cAg>cGg	p.Q81R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	81					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAGTTGGACTGGGAGGCCGT	0.617																																																	0													122	104	110					19																	17487856		2203	4300	6503	SO:0001583	missense	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"fenestrated-endothelial linked structure protein; PV-1 protein"	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.242A>G	19.37:g.17487856T>C	ENSP00000252590:p.Gln81Arg		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.Q81R	ENST00000252590.4	37	c.242	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	T	9.267	1.044695	0.19748	.	.	ENSG00000130300	ENST00000252590	T	0.31769	1.48	4.52	-0.194	0.13240	.	1.106340	0.06795	N	0.787633	T	0.19765	0.0475	L	0.32530	0.975	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.29852	-0.9998	10	0.18710	T	0.47	-13.4611	4.0696	0.09876	0.0:0.2978:0.1792:0.523	.	81	Q9BX97	PLVAP_HUMAN	R	81	ENSP00000252590:Q81R	ENSP00000252590:Q81R	Q	-	2	0	PLVAP	17348856	0.002000	0.14202	0.000000	0.03702	0.035000	0.12851	0.696000	0.25541	-0.335000	0.08451	0.260000	0.18958	CAG	PLVAP	-	pfam_PV-1	ENSG00000130300		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	-	0	63	0	T	NM_031310		17487856	-1	tier1	-	no_errors	ENST00000252590	ensembl	human	known	74_37	missense	44.00	42	33	SNP	0.000	C	C	17487856	T	C	17487856	3	2	58	1	0	0	0	0	1	0	0	0	12155	1580	55	4	1110	4	PLVAP	19	17487856	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	112959	17487856	41641127	2041	16424											
PDE4C	5143	genome.wustl.edu	37	chr19	18330172	18330172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtggggcctcctcagCggtcaccttgggcagctcca	4	8	15	14	1	2	0	2	0	0	0	4	0	4	0	4	5	2	3	4	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:18330172C>T	ENST00000355502.3	-	12	1709	c.838G>A	c.(838-840)Gct>Act	p.A280T	PDE4C_ENST00000447275.3_Missense_Mutation_p.A174T|PDE4C_ENST00000597297.1_Missense_Mutation_p.A50T|PDE4C_ENST00000594617.3_Missense_Mutation_p.A280T|PDE4C_ENST00000594465.3_Missense_Mutation_p.A280T|PDE4C_ENST00000262805.12_Missense_Mutation_p.A248T|PDE4C_ENST00000539010.1_Missense_Mutation_p.A49T|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Missense_Mutation_p.A50T			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	280					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GCCTCCTCAGCGGTCACCTTG	0.652																																																	0													45	45	45					19																	18330172		2203	4300	6503	SO:0001583	missense	0				CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"Phosphodiesterases"	8782	protein-coding gene	gene with protein product	"phosphodiesterase E1 dunce homolog (Drosophila)"	600128	"phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.838G>A	19.37:g.18330172C>T	ENSP00000347689:p.Ala280Thr		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A280T	ENST00000355502.3	37	c.838	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562768	0.13498	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.70399	-0.48;-0.47;-0.48;-0.21	4.53	-0.714	0.11219	.	.	.	.	.	T	0.29288	0.0729	N	0.00483	-1.445	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.001;0.001	B;B;B;B	0.10450	0.0;0.005;0.002;0.001	T	0.29912	-0.9996	9	0.18276	T	0.48	.	1.9401	0.03345	0.1075:0.3293:0.2672:0.296	.	280;248;86;50	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	T	359;280;268;248;174;86;49;49;389	ENSP00000347689:A280T;ENSP00000262805:A248T;ENSP00000402091:A174T;ENSP00000439470:A49T	ENSP00000262805:A248T	A	-	1	0	PDE4C	18191172	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.084000	0.11268	0.295000	0.22570	0.313000	0.20887	GCT	PDE4C	-	NULL	ENSG00000105650		0.652	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	-	0	68	0	C			18330172	-1	tier1	-	no_errors	ENST00000355502	ensembl	human	known	74_37	missense	55.22	30	37	SNP	0.000	T	T	18330172	C	T	18330172	3	4	58	1	0	0	0	0	1	0	0	0	11680	768	27	1	1332	1	PDE4C	19	18330172	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	842316	18330172	40798811	2042	16425											
NR2C2AP	126382	genome.wustl.edu	37	chr19	19312794	19312794	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacggccaaaaaagtcagtGgcatcctcaaacgtcacctt	14	7	7	13	2	3	0	3	0	0	0	4	0	4	0	3	2	1	1	3	2	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19312794G>T	ENST00000331552.7	-	5	723	c.360C>A	c.(358-360)gcC>gcA	p.A120A	NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000420605.3_Silent_p.A120A	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	120					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AAAAGTCAGTGGCATCCTCAA	0.572																																																	0													100	88	92					19																	19312794		2203	4300	6503	SO:0001819	synonymous_variant	0			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"TR4 orphan receptor associated protein TRA16"	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.360C>A	19.37:g.19312794G>T			A6NGP7|B4DW92	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.A120	ENST00000331552.7	37	c.360	CCDS32967.1	19																																																																																			NR2C2AP	-	superfamily_Galactose-bd-like	ENSG00000184162		0.572	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NR2C2AP	HGNC	protein_coding	OTTHUMT00000402936.4	-	0	56	0	G	NM_176880		19312794	-1	tier1	-	no_errors	ENST00000331552	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.692	T	T	19312794	G	T	19312794	2	4	58	1	0	0	0	0	0	0	0	1	10663	1335	47	3		3	NR2C2AP	19	19312794	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	982622	19312794	39816189	2043	16426											
HAPLN4	404037	genome.wustl.edu	37	chr19	19371676	19371676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagctcattggtgacttCgcactcatagcgcccgtagt	7	12	9	13	3	2	1	2	1	0	0	4	1	3	1	2	1	2	3	2	1	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19371676C>T	ENST00000291481.7	-	3	493	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	144	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	TTGGTGACTTCGCACTCATAG	0.622																																																	0													89	77	81					19																	19371676		2203	4300	6503	SO:0001583	missense	0			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.430G>A	19.37:g.19371676C>T	ENSP00000291481:p.Glu144Lys		A5PKW5|Q96PW2	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.E144K	ENST00000291481.7	37	c.430	CCDS12398.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.617939	0.96649	.	.	ENSG00000187664	ENST00000291481	T	0.64803	-0.12	4.66	4.66	0.58398	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	M	0.92026	3.265	0.52099	D	0.999949	D	0.89917	1.0	D	0.80764	0.994	D	0.86811	0.1998	10	0.87932	D	0	-45.4913	15.0686	0.72017	0.0:1.0:0.0:0.0	.	144	Q86UW8	HPLN4_HUMAN	K	144	ENSP00000291481:E144K	ENSP00000291481:E144K	E	-	1	0	HAPLN4	19232676	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.444000	0.60001	2.423000	0.82170	0.561000	0.74099	GAA	HAPLN4	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000187664		0.622	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	-	0	60	0	C	NM_023002		19371676	-1	tier1	-	no_errors	ENST00000291481	ensembl	human	known	74_37	missense	45.65	25	21	SNP	1.000	T	T	19371676	C	T	19371676	3	4	58	1	0	0	0	0	1	0	0	0	6984	893	31	1	790	1	HAPLN4	19	19371676	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	58882	19371676	39757307	2044	16427											
YJEFN3	374887	genome.wustl.edu	37	chr19	19646460	19646460	+	Frame_Shift_Del	DEL	C	C	-																															acgctcaagctgctgtccatCcccctcgtgagcctggacat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19646460delC	ENST00000514277.4	+	6	704	c.666delC	c.(664-666)atcfs	p.I222fs	CTC-260F20.3_ENST00000555938.1_Frame_Shift_Del_p.I221fs|CILP2_ENST00000586018.1_5'Flank|CILP2_ENST00000291495.5_5'Flank|YJEFN3_ENST00000436027.5_Frame_Shift_Del_p.I172fs|YJEFN3_ENST00000608404.1_Frame_Shift_Del_p.I221fs	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	222	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						TGCTGTCCATCCCCCTCGTGA	0.731																																																	0																																										SO:0001589	frameshift_variant	0				CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.666delC	19.37:g.19646460delC	ENSP00000426964:p.Ile222fs		A6XGK9|Q4G1C0	Frame_Shift_Del	DEL	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom	p.L224fs	ENST00000514277.4	37	c.666	CCDS42530.1	19																																																																																			YJEFN3	-	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom	ENSG00000250067		0.731	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000368157.5		0	29	0	C	NM_198537		19646460	1	tier1		no_errors	ENST00000514277	ensembl	human	known	74_37	frame_shift_del	28.00	18	7	DEL	1.000	-	-	19646460	C	-	19646460	7	5	58	1	0	1	0	1	0	0	0	0	17533	845	30	0	688	0	YJEFN3	19	19646460	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	274784	19646460	39482523	2045	16428											
GMIP	51291	genome.wustl.edu	37	chr19	19745476	19745476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagccagagagatgaaggCgtcgtagaggtggaagggga	12	6	18	5	2	0	4	0	1	0	3	1	7	0	6	1	5	1	1	1	5	4	2	rs150986647		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19745476C>T	ENST00000203556.4	-	18	2061	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	GMIP_ENST00000587238.1_Missense_Mutation_p.A616T|GMIP_ENST00000445806.2_Missense_Mutation_p.A613T|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	642	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGATGAAGGCGTCGTAGAGG	0.657																																																	0													138	139	139					19																	19745476		2203	4300	6503	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1924G>A	19.37:g.19745476C>T	ENSP00000203556:p.Ala642Thr		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A642T	ENST00000203556.4	37	c.1924	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592230	0.46214	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.18810	2.19;2.19	4.77	4.77	0.60923	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.41294	D	0.000908	T	0.23014	0.0556	L	0.46819	1.47	0.29644	N	0.844522	P;B;P	0.51240	0.943;0.139;0.943	P;B;P	0.46452	0.517;0.075;0.517	T	0.07271	-1.0781	10	0.34782	T	0.22	-18.5669	11.229	0.48901	0.0:0.814:0.186:0.0	.	613;616;642	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	T	642;613	ENSP00000203556:A642T;ENSP00000397075:A613T	ENSP00000203556:A642T	A	-	1	0	GMIP	19606476	0.956000	0.32656	0.964000	0.40570	0.958000	0.62258	2.267000	0.43329	2.205000	0.71048	0.561000	0.74099	GCC	GMIP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000089639		0.657	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0	77	0	C	NM_016573		19745476	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.756	T	T	19745476	C	T	19745476	3	4	58	1	0	0	0	0	1	0	0	0	6517	768	27	1	1004	1	GMIP	19	19745476	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	99016	19745476	39383507	2046	16429											
GMIP	51291	genome.wustl.edu	37	chr19	19748865	19748865	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgcctcggcctcctgcGcctggggaaacgggaggcca	7	4	15	15	4	0	0	0	0	0	0	2	2	1	2	5	5	3	0	5	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19748865G>A	ENST00000203556.4	-	10	928	c.791C>T	c.(790-792)gCg>gTg	p.A264V	GMIP_ENST00000587238.1_Splice_Site_p.A264V|GMIP_ENST00000445806.2_Splice_Site_p.A264V|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	264					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCCTCCTGCGCCTGGGGAAA	0.741																																																	0													11	10	10					19																	19748865		2185	4265	6450	SO:0001630	splice_region_variant	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.790-1C>T	19.37:g.19748865G>A			A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A264V	ENST00000203556.4	37	c.791	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	4.587	0.109142	0.08780	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.42900	0.96;0.96	4.27	-4.94	0.03057	.	0.363851	0.19861	N	0.104438	T	0.21227	0.0511	L	0.33189	0.99	0.28941	N	0.890971	B;B;B	0.16603	0.018;0.007;0.007	B;B;B	0.06405	0.002;0.002;0.002	T	0.44128	-0.9348	10	0.05436	T	0.98	-2.7089	10.6349	0.45558	0.6046:0.0:0.3954:0.0	.	264;264;264	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	V	264	ENSP00000203556:A264V;ENSP00000397075:A264V	ENSP00000203556:A264V	A	-	2	0	GMIP	19609865	0.005000	0.15991	0.038000	0.18304	0.041000	0.13682	0.038000	0.13862	-1.058000	0.03197	-0.657000	0.03884	GCG	GMIP	-	NULL	ENSG00000089639		0.741	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0	39	0	G	NM_016573	Missense_Mutation	19748865	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.009	A	A	19748865	G	A	19748865	5	1	58	1	0	0	0	0	0	0	1	0	6517	1101	38	1	2169	1	GMIP	19	19748865	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3389	19748865	39380118	2047	16430											
ZNF253	56242	genome.wustl.edu	37	chr19	20002726	20002726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacataagagaattcataccGgagagaaaccctacagatgt	17	7	8	9	1	1	3	1	0	0	3	1	6	1	4	2	1	3	0	2	1	5	4	rs373902550		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:20002726G>A	ENST00000589717.1	+	4	762	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.G148R	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	224				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCATACCGGAGAGAAACC	0.378																																																	0								G	ARG/GLY	0,4342		0,0,2171	39	43	41		670	-0.4	0.1	19		41	3,8557		0,3,4277	no	missense	ZNF253	NM_021047.2	125	0,3,6448	AA,AG,GG		0.035,0.0,0.0233	possibly-damaging	224/500	20002726	3,12899	2171	4280	6451	SO:0001583	missense	0			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"Zinc fingers, C2H2-type", "-"	13497	protein-coding gene	gene with protein product		606954	"zinc finger protein 411"	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.670G>A	19.37:g.20002726G>A	ENSP00000468720:p.Gly224Arg		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G224R	ENST00000589717.1	37	c.670	CCDS42532.1	19	.	.	.	.	.	.	.	.	.	.	g	8.629	0.893211	0.17613	0.0	3.5E-4	ENSG00000256771	ENST00000355650	.	.	.	0.876	-0.389	0.12455	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48295	0.1492	M	0.71036	2.16	0.31678	N	0.643465	P	0.50528	0.936	P	0.49252	0.604	T	0.55547	-0.8124	7	.	.	.	.	4.5998	0.12348	0.3023:0.0:0.6977:0.0	.	224	O75346	ZN253_HUMAN	R	224	.	.	G	+	1	0	ZNF253	19863726	0.101000	0.21875	0.068000	0.19968	0.068000	0.16541	2.171000	0.42453	0.293000	0.22520	0.298000	0.19748	GGA	ZNF253	-	pfscan_Znf_C2H2	ENSG00000256771		0.378	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF253	HGNC	protein_coding	OTTHUMT00000460802.1	-	0	40	0	G	NM_021047		20002726	1	tier1	-	no_errors	ENST00000589717	ensembl	human	known	74_37	missense	46.05	41	35	SNP	0.986	A	A	20002726	G	A	20002726	3	1	58	1	0	0	0	0	1	0	0	0	17845	1117	39	1	684	1	ZNF253	19	20002726	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	253861	20002726	39126257	2048	16431											
ZNF708	7562	genome.wustl.edu	37	chr19	21476363	21476363	+	Frame_Shift_Del	DEL	T	T	-																															gggtttctctccagtatgaaTttttttatgattagtaaaat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:21476363delT	ENST00000356929.3	-	4	1602	c.1405delA	c.(1405-1407)attfs	p.I469fs		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCAGTATGAATTTTTTTATGA	0.313																																																	0													25	28	27					19																	21476363		2186	4270	6456	SO:0001589	frameshift_variant	0			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"Zinc fingers, C2H2-type", "-"	12945	protein-coding gene	gene with protein product			"zinc finger protein 15-like 1 (KOX 8)", "zinc finger protein 708", "zinc finger protein 708 (KOX8)"	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1405delA	19.37:g.21476363delT	ENSP00000349401:p.Ile469fs		Q6ZMR0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I469fs	ENST00000356929.3	37	c.1405	CCDS32980.1	19																																																																																			ZNF708	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182141		0.313	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1		0	41	0	T	NM_021269		21476363	-1	tier1		no_errors	ENST00000356929	ensembl	human	known	74_37	frame_shift_del	34.29	23	12	DEL	0.997	-	-	21476363	T	-	21476363	7	5	58	1	0	1	0	1	0	0	0	0	18160	1493	52	0	290	0	ZNF708	19	21476363	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	1473637	21476363	37652620	2049	16432											
ZNF91	7644	genome.wustl.edu	37	chr19	23543033	23543033	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctggctaaatgctttGccacattcttcacatttgta	10	14	8	9	0	2	0	1	0	1	0	2	1	2	0	1	2	2	4	1	2	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:23543033G>T	ENST00000300619.7	-	4	2953	c.2748C>A	c.(2746-2748)ggC>ggA	p.G916G	ZNF91_ENST00000397082.2_Silent_p.G884G|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	916					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAAATGCTTTGCCACATTCTT	0.403																																																	0													59	63	61					19																	23543033		2184	4289	6473	SO:0001819	synonymous_variant	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"Zinc fingers, C2H2-type", "-"	13166	protein-coding gene	gene with protein product		603971	"zinc finger protein 91 (HPF7, HTF10)"			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2748C>A	19.37:g.23543033G>T			A8K5E1|B7Z6G6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G916	ENST00000300619.7	37	c.2748	CCDS42541.1	19																																																																																			ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0	32	0	G	NM_003430		23543033	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	silent	48.94	24	23	SNP	0.978	T	T	23543033	G	T	23543033	2	4	58	1	0	0	0	0	0	0	0	1	18248	1306	46	3		3	ZNF91	19	23543033	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2066670	23543033	35585950	2050	16433											
C19orf2	8725	genome.wustl.edu	37	chr19	30503199	30503199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatatcacagagcctttGttgatgttgtgaatggagaa	12	14	11	4	0	1	5	1	3	0	2	1	6	1	5	1	1	1	2	1	1	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:30503199G>A	ENST00000542441.2	+	10	1483	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I	URI1_ENST00000392271.1_Missense_Mutation_p.V320I|URI1_ENST00000312051.6_Missense_Mutation_p.V356I|URI1_ENST00000360605.4_Missense_Mutation_p.V378I			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	396					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CAGAGCCTTTGTTGATGTTGT	0.373																																																	0													161	152	155					19																	30503199		2203	4300	6503	SO:0001583	missense	0			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	13236	protein-coding gene	gene with protein product	"unconventional prefoldin RPB5 interactor", "RPB5-mediating protein", "protein phosphatase 1, regulatory subunit 19"	603494	"chromosome 19 open reading frame 2"	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1186G>A	19.37:g.30503199G>A	ENSP00000442436:p.Val396Ile		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin	p.V396I	ENST00000542441.2	37	c.1186	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126470	0.77549	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.55588	0.51	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.63843	1.955	0.58432	D	0.999998	D;D;D	0.65815	0.995;0.991;0.978	P;P;P	0.60789	0.879;0.815;0.743	T	0.60337	-0.7283	10	0.19590	T	0.45	-18.8197	19.4888	0.95042	0.0:0.0:1.0:0.0	.	356;396;393	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	I	394;320;396;356	ENSP00000442436:V396I	ENSP00000312530:V356I	V	+	1	0	C19orf2	35195039	1.000000	0.71417	0.996000	0.52242	0.384000	0.30261	9.148000	0.94652	2.607000	0.88179	0.585000	0.79938	GTT	URI1	-	NULL	ENSG00000105176		0.373	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	HGNC	protein_coding	OTTHUMT00000439756.1	-	0	46	0	G	NM_134447		30503199	1	tier1	-	no_errors	ENST00000542441	ensembl	human	known	74_37	missense	42.00	28	21	SNP	1.000	A	A	30503199	G	A	30503199	3	1	58	1	0	0	0	0	1	0	0	0	1918	1377	48	3	1224	3	C19orf2	19	30503199	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6960166	30503199	28625784	2051	16434											
TSHZ3	57616	genome.wustl.edu	37	chr19	31769235	31769235	+	Frame_Shift_Del	DEL	T	T	-																															tcttcttcgccaggcttgtcTttttgcttaggtttctcgtc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:31769235delT	ENST00000240587.4	-	2	1791	c.1464delA	c.(1462-1464)aaafs	p.K488fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	488					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGGCTTGTCTTTTTGCTTAG	0.473																																																	0													186	189	188					19																	31769235		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1464delA	19.37:g.31769235delT	ENSP00000240587:p.Lys488fs		Q9H0G6|Q9P254	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D489fs	ENST00000240587.4	37	c.1464	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.473	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2		0	66	0	T	NM_020856		31769235	-1	tier1		no_errors	ENST00000240587	ensembl	human	known	74_37	frame_shift_del	19.51	33	8	DEL	0.971	-	-	31769235	T	-	31769235	7	5	58	1	0	1	0	1	0	0	0	0	16673	1606	56	0	1785	0	TSHZ3	19	31769235	Frame_Shift_Del	DEL	T	TCGA-L5-A4OI-01A-11D-A27G-09	1266036	31769235	27359748	2052	16435											
ANKRD27	84079	genome.wustl.edu	37	chr19	33130392	33130392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtaactcaaatttgccAtcctaatgaaaggaagaaaa	18	10	7	6	0	1	3	1	2	0	1	2	4	2	4	2	1	2	1	2	1	7	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:33130392A>G	ENST00000306065.4	-	12	1144	c.986T>C	c.(985-987)aTg>aCg	p.M329T	ANKRD27_ENST00000587352.1_Missense_Mutation_p.M329T	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	329	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAAATTTGCCATCCTAATGAA	0.373																																																	0													135	131	132					19																	33130392		2203	4300	6503	SO:0001583	missense	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.986T>C	19.37:g.33130392A>G	ENSP00000304292:p.Met329Thr		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.M329T	ENST00000306065.4	37	c.986	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992976	0.54041	.	.	ENSG00000105186	ENST00000306065	T	0.29397	1.57	5.29	5.29	0.74685	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.64402	D	0.000001	T	0.31451	0.0797	N	0.26042	0.785	0.80722	D	1	P	0.48589	0.912	P	0.52267	0.694	T	0.02925	-1.1093	10	0.12103	T	0.63	-38.6691	15.5408	0.76043	1.0:0.0:0.0:0.0	.	329	Q96NW4	ANR27_HUMAN	T	329	ENSP00000304292:M329T	ENSP00000304292:M329T	M	-	2	0	ANKRD27	37822232	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.136000	0.89610	2.120000	0.65058	0.460000	0.39030	ATG	ANKRD27	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	ENSG00000105186		0.373	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0	63	0	A	NM_032139		33130392	-1	tier1	-	no_errors	ENST00000306065	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	G	G	33130392	A	G	33130392	3	3	58	1	0	0	0	0	1	0	0	0	655	217	8	4	2238	4	ANKRD27	19	33130392	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1361157	33130392	25998591	2053	16436											
RGS9BP	388531	genome.wustl.edu	37	chr19	33167776	33167777	+	Frame_Shift_Del	DEL	GG	GG	-																															tcgtgtccttgcaggagcgcGgggggggttgcgaccccagg																								rs553510893		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:33167776_33167777delGG	ENST00000334176.3	+	1	1464_1465	c.607_608delGG	c.(607-609)gggfs	p.G205fs	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	205					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					GCAGGAGCGCGGGGGGGGTTGC	0.743																																																	0																																										SO:0001589	frameshift_variant	0			AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"regulator of G protein signalling 9 binding protein"			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.607_608delGG	19.37:g.33167782_33167783delGG	ENSP00000334134:p.Gly205fs		Q6ZVJ6	Frame_Shift_Del	DEL	NULL	p.G205fs	ENST00000334176.3	37	c.607_608	CCDS12424.1	19																																																																																			RGS9BP	-	NULL	ENSG00000186326		0.743	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS9BP	HGNC	protein_coding	OTTHUMT00000450337.1		0	17	0	GG	NM_207391		33167777	1	tier1		no_errors	ENST00000334176	ensembl	human	known	74_37	frame_shift_del	50.00	3	3	DEL	0.000:0.000	-	-	33167777	GG	-	33167776	7	5	58	1	0	1	0	1	0	0	0	0	13359	1116	39	0	609	0	RGS9BP	19	33167776	Frame_Shift_Del	DEL	GG	TCGA-L5-A4OI-01A-11D-A27G-09	37384	33167776	25961207	2054	16437											
KIAA0355	9710	genome.wustl.edu	37	chr19	34818368	34818368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggctgtgatggttgcctgGcaggaattgaagttcaacaa	11	10	14	6	0	1	2	1	2	0	0	1	4	1	3	1	4	2	4	1	4	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:34818368G>T	ENST00000299505.6	+	4	1621	c.748G>T	c.(748-750)Gca>Tca	p.A250S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	250										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGGTTGCCTGGCAGGAATTGA	0.408																																																	0													104	110	108					19																	34818368		2203	4300	6503	SO:0001583	missense	0				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.748G>T	19.37:g.34818368G>T	ENSP00000299505:p.Ala250Ser		Q2M3W4	Missense_Mutation	SNP	NULL	p.A250S	ENST00000299505.6	37	c.748	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160716	0.78226	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.056882	0.64402	D	0.000001	T	0.43634	0.1256	N	0.11560	0.145	0.58432	D	0.999999	B	0.31705	0.336	B	0.31442	0.13	T	0.49995	-0.8879	9	0.87932	D	0	-27.1786	19.3067	0.94165	0.0:0.0:1.0:0.0	.	250	O15063	K0355_HUMAN	S	250	.	ENSP00000299505:A250S	A	+	1	0	KIAA0355	39510208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	2.580000	0.87095	0.544000	0.68410	GCA	KIAA0355	-	NULL	ENSG00000166398		0.408	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	-	0	58	0	G	NM_014686		34818368	1	tier1	-	no_errors	ENST00000299505	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	34818368	G	T	34818368	3	4	58	1	0	0	0	0	1	0	0	0	8197	1203	42	3	758	3	KIAA0355	19	34818368	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1650592	34818368	24310615	2055	16438											
SBSN	374897	genome.wustl.edu	37	chr19	36017923	36017924	+	Frame_Shift_Ins	INS	-	-	C																															tgaatgtcgtggccaaactgINSccccgcctcccttccagcct																								rs554628241		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36017923_36017924insC	ENST00000452271.2	-	1	1288_1289	c.1260_1261insG	c.(1258-1263)gggcagfs	p.Q421fs	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	421	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGCCAAACTGCCCCGCCTCCC	0.619																																																	0																																										SO:0001589	frameshift_variant	0			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1261dupG	19.37:g.36017927_36017927dupC	ENSP00000430242:p.Gln421fs		A8K5J0|E9PBV3	Frame_Shift_Ins	INS	NULL	p.Q420fs	ENST00000452271.2	37	c.1261_1260	CCDS54253.1	19																																																																																			SBSN	-	NULL	ENSG00000189001		0.619	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3		0	49	0	-	NM_198538		36017924	-1	tier1		no_errors	ENST00000452271	ensembl	human	novel	74_37	frame_shift_ins	47.17	28	25	INS	0.000:0.000	C	C	36017924	-	C	36017923	7	5	58	1	0	1	1	0	0	0	0	0	13909	1328	46	0	527	0	SBSN	19	36017923	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	1199555	36017923	23111060	2056	16439											
GAPDHS	26330	genome.wustl.edu	37	chr19	36034636	36034636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggacctgacctgccgcctCgcccagcctgccccctactc	4	7	9	21	2	0	1	0	1	0	0	2	2	0	2	8	1	4	0	8	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36034636C>T	ENST00000222286.4	+	9	1079	c.963C>T	c.(961-963)ctC>ctT	p.L321L	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000222284.5_5'Flank|TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|TMEM147_ENST00000392204.2_5'Flank	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	321					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGCCGCCTCGCCCAGCCTG	0.622																																																	0													51	53	53					19																	36034636		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.963C>T	19.37:g.36034636C>T			B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.L321	ENST00000222286.4	37	c.963	CCDS12465.1	19																																																																																			GAPDHS	-	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000105679		0.622	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	-	0	72	0	C	NM_014364		36034636	1	tier1	-	no_errors	ENST00000222286	ensembl	human	known	74_37	silent	41.54	38	27	SNP	0.952	T	T	36034636	C	T	36034636	2	4	58	1	0	0	0	0	0	0	0	1	6262	871	31	1		1	GAPDHS	19	36034636	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	16713	36034636	23094347	2057	16440											
MLL4	9757	genome.wustl.edu	37	chr19	36210763	36210764	+	Frame_Shift_Ins	INS	-	-	CC																															cctagcagatgtggctcctaINScccccccaaagacccctgcc																								rs532152042|rs60207923	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36210763_36210764insCC	ENST00000222270.7	+	3	514_515	c.514_515insCC	c.(514-516)accfs	p.T172fs	KMT2B_ENST00000341701.1_Frame_Shift_Ins_p.T172fs|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.T172fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	172			T -> I (in dbSNP:rs60207923).		chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGTGGCTCCTACCCCCCCAAAG	0.634																																																	0																																										SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.519_520dupCC	19.37:g.36210768_36210769dupCC	ENSP00000222270:p.Thr172fs		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.K175fs	ENST00000222270.7	37	c.514_515	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.634	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0	55	0	-	NM_014727		36210764	1	tier1		no_errors	ENST00000222270	ensembl	human	known	74_37	frame_shift_ins	31.48	37	17	INS	0.976:0.976	CC	CC	36210764	-	CC	36210763	7	5	58	1	0	1	1	0	0	0	0	0	9661	391	14	0	524	0	MLL4	19	36210763	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	176127	36210763	22918220	2058	16441	67	2									
MLL4	9757	genome.wustl.edu	37	chr19	36210771	36210771	+	Silent	SNP	A	A	C																															gatgtggctcctacccccccAaagacccctgcccggaaacg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36210771A>C	ENST00000222270.7	+	3	522	c.522A>C	c.(520-522)ccA>ccC	p.P174P	KMT2B_ENST00000341701.1_Silent_p.P174P|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.P174P	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	174					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTACCCCCCCAAAGACCCCTG	0.642																																																	0													42	50	47					19																	36210771		1954	4135	6089	SO:0001819	synonymous_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.522A>C	19.37:g.36210771A>C			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P174	ENST00000222270.7	37	c.522	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0	57	0	A	NM_014727		36210771	1			no_errors	ENST00000222270	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	C	C	36210771	A	C	36210771	2	2	58	1	0	0	0	0	0	0	0	1	9661	117	5	4		4	MLL4	19	36210771	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	8	36210771	22918212	2059	16442	67	2									
MLL4	9757	genome.wustl.edu	37	chr19	36229256	36229256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcatggcaatgccgcccGcttcatcaaccactcctgtg	8	9	9	15	2	2	0	2	0	0	0	3	1	3	0	4	1	3	3	4	1	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36229256G>A	ENST00000222270.7	+	37	7946	c.7946G>A	c.(7945-7947)cGc>cAc	p.R2649H	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R2649H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2649	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R2651H(1)									AATGCCGCCCGCTTCATCAAC	0.577																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											78	86	84					19																	36229256		2199	4299	6498	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7946G>A	19.37:g.36229256G>A	ENSP00000222270:p.Arg2649His		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R2649H	ENST00000222270.7	37	c.7946	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709254	0.68615	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85556	-2.0;-2.0	5.42	5.42	0.78866	SET domain (3);	0.000000	0.45126	D	0.000397	D	0.93890	0.8045	M	0.90145	3.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94772	0.7946	10	0.72032	D	0.01	.	17.9826	0.89146	0.0:0.0:1.0:0.0	.	2649	Q9UMN6	MLL4_HUMAN	H	2649	ENSP00000222270:R2649H;ENSP00000398837:R2649H	ENSP00000222270:R2649H	R	+	2	0	AD000671.1	40921096	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.869000	0.99810	2.551000	0.86045	0.462000	0.41574	CGC	KMT2B	-	pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000272333		0.577	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	24	0	G	NM_014727		36229256	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	A	A	36229256	G	A	36229256	3	1	58	1	0	0	0	0	1	0	0	0	9661	1087	38	1	8092	1	MLL4	19	36229256	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	18485	36229256	22899727	2060	16443											
ZNF585B	92285	genome.wustl.edu	37	chr19	37677212	37677212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacatttcatgcatatataCgatttttctcctgtatgaat	11	17	4	9	1	2	1	1	1	1	0	3	2	2	1	2	0	2	2	2	0	5	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:37677212C>T	ENST00000532828.2	-	5	1478	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Silent_p.S354S|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCATATATACGATTTTTCTC	0.418																																					Melanoma(93;882 1454 18863 28917 48427)												0													92	89	90					19																	37677212		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1227G>A	19.37:g.37677212C>T			Q8IZD3|Q96JW6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S409	ENST00000532828.2	37	c.1227	CCDS12500.1	19																																																																																			ZNF585B	-	pfscan_Znf_C2H2	ENSG00000245680		0.418	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0	86	0	C	NM_152279		37677212	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	silent	38.32	66	41	SNP	0.006	T	T	37677212	C	T	37677212	2	4	58	1	0	0	0	0	0	0	0	1	18066	523	19	1		1	ZNF585B	19	37677212	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1447956	37677212	21451771	2061	16444											
ZNF540	163255	genome.wustl.edu	37	chr19	38103492	38103492	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaattcatactggagagaaAccatatgaatgtaaggaatg	18	9	10	4	0	1	3	1	1	0	2	1	6	1	5	1	2	2	1	1	2	7	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:38103492A>G	ENST00000592533.1	+	5	1643	c.1311A>G	c.(1309-1311)aaA>aaG	p.K437K	ZNF540_ENST00000589117.1_Silent_p.K405K|ZNF540_ENST00000343599.5_Silent_p.K437K|ZNF540_ENST00000316433.4_Silent_p.K437K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	437					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGAGAGAAACCATATGAAT	0.408																																																	0													82	80	81					19																	38103492		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1311A>G	19.37:g.38103492A>G			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K437	ENST00000592533.1	37	c.1311	CCDS12506.1	19																																																																																			ZNF540	-	pfscan_Znf_C2H2	ENSG00000171817		0.408	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0	33	0	A	NM_152606		38103492	1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	silent	6.85	68	5	SNP	1.000	G	G	38103492	A	G	38103492	2	3	58	1	0	0	0	0	0	0	0	1	18023	40	2	4		4	ZNF540	19	38103492	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	426280	38103492	21025491	2062	16445											
RYR1	6261	genome.wustl.edu	37	chr19	38981338	38981338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagattcgacaggatttGcttgactttcatcaagacct	12	12	9	8	1	2	3	2	1	0	2	3	7	2	4	1	1	1	1	1	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:38981338G>A	ENST00000359596.3	+	37	6093	c.6093G>A	c.(6091-6093)ttG>ttA	p.L2031L	RYR1_ENST00000360985.3_Silent_p.L2031L|RYR1_ENST00000355481.4_Silent_p.L2031L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2031	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACAGGATTTGCTTGACTTTC	0.463																																																	0													125	104	111					19																	38981338		2203	4300	6503	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6093G>A	19.37:g.38981338G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L2031	ENST00000359596.3	37	c.6093	CCDS33011.1	19																																																																																			RYR1	-	superfamily_MG_RAP_rcpt_1	ENSG00000196218		0.463	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	38	0	G			38981338	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	42.11	22	16	SNP	0.377	A	A	38981338	G	A	38981338	2	1	58	1	0	0	0	0	0	0	0	1	13813	1310	46	3		3	RYR1	19	38981338	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	877846	38981338	20147645	2063	16446											
NFKBIB	4793	genome.wustl.edu	37	chr19	39398218	39398218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcctcctccgtgcacaCggagcccctgagcccgaggg	5	4	13	19	4	0	1	0	1	0	0	2	3	2	2	7	2	3	1	7	2	0	0	rs367810334		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39398218C>T	ENST00000313582.5	+	5	922	c.888C>T	c.(886-888)caC>caT	p.H296H	NFKBIB_ENST00000572515.1_Silent_p.H296H|NFKBIB_ENST00000392079.3_Silent_p.H264H	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	296					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCCGTGCACACGGAGCCCCTG	0.701													C|||	1	0.000199681	0	0	5008	,	,		15776	0		0.001	False		,,,				2504	0				Pancreas(165;1492 2005 6979 7739 34483)												0								C	,	1,4387		0,1,2193	17	19	18		792,888	-7	0.8	19		18	0,8540		0,0,4270	no	coding-synonymous,coding-synonymous	NFKBIB	NM_001001716.1,NM_002503.4	,	0,1,6463	TT,TC,CC		0.0,0.0228,0.0077	,	264/307,296/357	39398218	1,12927	2194	4270	6464	SO:0001819	synonymous_variant	0			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"Ankyrin repeat domain containing"	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.888C>T	19.37:g.39398218C>T			A8K3F4|Q96BJ7	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H296	ENST00000313582.5	37	c.888	CCDS12524.1	19																																																																																			NFKBIB	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104825		0.701	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIB	HGNC	protein_coding	OTTHUMT00000438155.1	-	0	41	0	C	NM_002503		39398218	1	tier1	-	no_errors	ENST00000313582	ensembl	human	known	74_37	silent	51.72	14	15	SNP	0.453	T	T	39398218	C	T	39398218	2	4	58	1	0	0	0	0	0	0	0	1	10417	535	19	1		1	NFKBIB	19	39398218	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	416880	39398218	19730765	2064	16447											
IL28B	282617	genome.wustl.edu	37	chr19	39734490	39734490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcctcctggagccggtGcagccaatggtggaggcggc	5	6	19	11	2	0	0	0	0	0	0	1	2	1	2	4	8	3	1	4	8	1	0	rs139076671	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39734490G>A	ENST00000413851.2	-	4	504	c.466C>T	c.(466-468)Cac>Tac	p.H156Y		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	156				H -> Y (in Ref. 2; AAN86127). {ECO:0000305}.	defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGGAGCCGGTGCAGCCAATGG	0.692													G|||	71	0.0141773	0.0045	0.0836	5008	,	,		14602	0.003		0.004	False		,,,				2504	0																0													31	39	36					19																	39734490		2202	4296	6498	SO:0001583	missense	0			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.466C>T	19.37:g.39734490G>A	ENSP00000409000:p.His156Tyr		A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	NULL	p.H156Y	ENST00000413851.2	37	c.466	CCDS12530.1	19	39	0.017857142857142856	5	0.01016260162601626	14	0.03867403314917127	7	0.012237762237762238	13	0.017150395778364115	G	17.47	3.398422	0.62177	.	.	ENSG00000197110	ENST00000413851	T	0.33216	1.42	3.95	3.95	0.45737	.	0.703032	0.14003	N	0.347987	T	0.16642	0.0400	M	0.84683	2.71	0.32763	N	0.504876	D	0.64830	0.994	P	0.49683	0.619	T	0.55341	-0.8156	10	0.49607	T	0.09	-0.0039	11.8255	0.52265	0.0:0.0:1.0:0.0	.	156	Q8IZI9	IL28B_HUMAN	Y	156	ENSP00000409000:H156Y	ENSP00000409000:H156Y	H	-	1	0	IL28B	44426330	0.995000	0.38212	0.961000	0.40146	0.263000	0.26337	2.062000	0.41413	1.934000	0.56057	0.205000	0.17691	CAC	IFNL3	-	NULL	ENSG00000197110		0.692	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL3	HGNC	protein_coding	OTTHUMT00000463832.1		0	207	0	G	NM_172139		39734490	-1			no_errors	ENST00000413851	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.959	A	A	39734490	G	A	39734490	3	1	58	1	0	0	0	0	1	0	0	0	7710	1319	46	3	131	3	IL28B	19	39734490	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	336272	39734490	19394493	2065	16448											
IL28B	282617	genome.wustl.edu	37	chr19	39734659	39734659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgactcacacaggcccggaGctgggagaggatatggtgca	11	5	15	10	2	1	1	1	0	0	1	1	5	1	3	1	5	2	2	1	5	1	1	rs149832972	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39734659G>A	ENST00000413851.2	-	3	435	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	133					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGGCCCGGAGCTGGGAGAGG	0.672													G|||	3	0.000599042	0	0	5008	,	,		15848	0.001		0.002	False		,,,				2504	0																0													54	60	58					19																	39734659		2203	4300	6503	SO:0001583	missense	0			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"Interferons"	18365	protein-coding gene	gene with protein product		607402	"interleukin 28B", "interleukin 28B (interferon, lambda 3)"	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.397C>T	19.37:g.39734659G>A	ENSP00000409000:p.Leu133Phe		A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	NULL	p.L133F	ENST00000413851.2	37	c.397	CCDS12530.1	19	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670145	0.29693	.	.	ENSG00000197110	ENST00000413851	T	0.48201	0.82	3.86	-0.448	0.12230	.	0.360877	0.23742	N	0.045011	T	0.65015	0.2651	M	0.87269	2.87	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53415	-0.8442	10	0.56958	D	0.05	-5.2703	6.2685	0.20941	0.0:0.1744:0.4709:0.3547	.	133	Q8IZI9	IL28B_HUMAN	F	133	ENSP00000409000:L133F	ENSP00000409000:L133F	L	-	1	0	IL28B	44426499	0.170000	0.23016	0.167000	0.22817	0.344000	0.29017	0.542000	0.23222	0.166000	0.19597	0.205000	0.17691	CTC	IFNL3	-	NULL	ENSG00000197110		0.672	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL3	HGNC	protein_coding	OTTHUMT00000463832.1	-	0	138	0	G	NM_172139		39734659	-1	tier1	rs149832972	no_errors	ENST00000413851	ensembl	human	known	74_37	missense	8.54	75	7	SNP	0.018	A	A	39734659	G	A	39734659	3	1	58	1	0	0	0	0	1	0	0	0	7710	971	34	3	204	3	IL28B	19	39734659	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	169	39734659	19394324	2066	16449											
IL28A	282616	genome.wustl.edu	37	chr19	39760143	39760143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgagggagcgccccAtggctttggaggctgagctg	6	8	17	10	1	1	2	1	2	0	0	1	4	1	4	2	5	2	3	2	5	0	1	rs11670676	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39760143A>G	ENST00000331982.5	+	4	341	c.286A>G	c.(286-288)Atg>Gtg	p.M96V		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	96					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GGAGCGCCCCATGGCTTTGGA	0.622													a|||	5	0.000998403	0.0038	0	5008	,	,		16496	0		0	False		,,,				2504	0																0								G	VAL/MET	21,4385	25.3+/-52.1	0,21,2182	36	40	38		286	-6.4	0	19	dbSNP_120	38	6,8594	5.0+/-18.6	0,6,4294	no	missense	IL28A	NM_172138.1	21	0,27,6476	GG,GA,AA		0.0698,0.4766,0.2076	benign	96/201	39760143	27,12979	2203	4300	6503	SO:0001583	missense	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.286A>G	19.37:g.39760143A>G	ENSP00000333639:p.Met96Val		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.M96V	ENST00000331982.5	37	c.286	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.301165	0.00019	0.004766	6.98E-4	ENSG00000183709	ENST00000331982	T	0.26067	1.76	3.2	-6.4	0.01944	.	1.431730	0.04214	N	0.332333	T	0.05227	0.0139	N	0.00468	-1.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.02654	T	1	-1.5885	7.9773	0.30161	0.6374:0.1243:0.2383:0.0	rs11670676	96	Q8IZJ0	IL28A_HUMAN	V	96	ENSP00000333639:M96V	ENSP00000333639:M96V	M	+	1	0	IL28A	44451983	0.000000	0.05858	0.015000	0.15790	0.089000	0.18198	-1.738000	0.01842	-1.962000	0.01014	-2.221000	0.00296	ATG	IFNL2	-	NULL	ENSG00000183709		0.622	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1		0	100	0	A	NM_172138		39760143	1			no_errors	ENST00000331982	ensembl	human	known	74_37	missense	9.90	91	10	SNP	0.009	G	G	39760143	A	G	39760143	3	3	58	1	0	0	0	0	1	0	0	0	7709	217	8	4	300	4	IL28A	19	39760143	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	25484	39760143	19368840	2067	16450											
IL28A	282616	genome.wustl.edu	37	chr19	39760216	39760216	+	Missense_Mutation	SNP	T	T	G																															tgacactgacccagccctggTggacgtcttggaccagcccc																								rs577580465	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39760216T>G	ENST00000331982.5	+	4	414	c.359T>G	c.(358-360)gTg>gGg	p.V120G		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	120					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CCAGCCCTGGTGGACGTCTTG	0.647													T|||	5	0.000998403	0.003	0	5008	,	,		15676	0.001		0	False		,,,				2504	0																0													67	71	69					19																	39760216		2203	4300	6503	SO:0001583	missense	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.359T>G	19.37:g.39760216T>G	ENSP00000333639:p.Val120Gly		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.V120G	ENST00000331982.5	37	c.359	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.777293	0.00640	.	.	ENSG00000183709	ENST00000331982	T	0.29142	1.58	3.2	-3.39	0.04868	.	1.213040	0.05846	N	0.620271	T	0.06050	0.0157	N	0.00666	-1.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.06365	T	0.9	-3.3813	0.2566	0.00212	0.2351:0.1654:0.2519:0.3477	.	120	Q8IZJ0	IL28A_HUMAN	G	120	ENSP00000333639:V120G	ENSP00000333639:V120G	V	+	2	0	IL28A	44452056	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.479000	0.06567	-0.420000	0.07427	-0.869000	0.02991	GTG	IFNL2	-	NULL	ENSG00000183709		0.647	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1	-	0	140	0	T	NM_172138		39760216	1	tier1	-	no_errors	ENST00000331982	ensembl	human	known	74_37	missense	10.34	129	15	SNP	0.001	G	G	39760216	T	G	39760216	3	3	58	1	0	0	0	0	1	0	0	0	7709	1696	59	4	373	4	IL28A	19	39760216	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	73	39760216	19368767	2068	16451	68	2									
IL28A	282616	genome.wustl.edu	37	chr19	39760220	39760220	+	Silent	SNP	C	C	T																															actgacccagccctggtggaCgtcttggaccagccccttca																								rs545058782	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39760220C>T	ENST00000331982.5	+	4	418	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	121					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CCCTGGTGGACGTCTTGGACC	0.647													C|||	6	0.00119808	0.003	0	5008	,	,		15647	0.001		0	False		,,,				2504	0.001																0													68	72	71					19																	39760220		2203	4300	6503	SO:0001819	synonymous_variant	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"Interferons"	18364	protein-coding gene	gene with protein product		607401	"interleukin 28A", "interleukin 28A (interferon, lambda 2)"	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.363C>T	19.37:g.39760220C>T			Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	NULL	p.D121	ENST00000331982.5	37	c.363	CCDS42567.1	19																																																																																			IFNL2	-	NULL	ENSG00000183709		0.647	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1	-	0	145	0	C	NM_172138		39760220	1	tier1	-	no_errors	ENST00000331982	ensembl	human	known	74_37	silent	11.69	136	18	SNP	0.000	T	T	39760220	C	T	39760220	2	4	58	1	0	0	0	0	0	0	0	1	7709	535	19	1		1	IL28A	19	39760220	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4	39760220	19368763	2069	16452	68	2									
FCGBP	8857	genome.wustl.edu	37	chr19	40395898	40395898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactcgcccattaccccagGccacgttctcctgcaggacg	7	8	9	17	3	1	1	0	1	1	0	3	2	1	2	5	2	2	2	5	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40395898G>A	ENST00000221347.6	-	15	7506	c.7499C>T	c.(7498-7500)gCc>gTc	p.A2500V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2500	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATTACCCCAGGCCACGTTCTC	0.627																																																	0													151	130	138					19																	40395898		2166	3937	6103	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7499C>T	19.37:g.40395898G>A	ENSP00000221347:p.Ala2500Val		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A2500V	ENST00000221347.6	37	c.7499	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174333	0.38413	.	.	ENSG00000090920	ENST00000221347	T	0.59224	0.28	2.05	2.05	0.26809	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.50463	0.1617	L	0.35644	1.08	0.09310	N	0.999999	B	0.29188	0.236	B	0.41174	0.349	T	0.46775	-0.9167	9	0.30078	T	0.28	.	6.83	0.23905	0.1537:0.0:0.8463:0.0	.	2500	Q9Y6R7	FCGBP_HUMAN	V	2500	ENSP00000221347:A2500V	ENSP00000221347:A2500V	A	-	2	0	FCGBP	45087738	0.000000	0.05858	0.672000	0.29872	0.693000	0.40251	0.137000	0.15995	1.465000	0.48006	0.298000	0.19748	GCC	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	183	0	G	NM_003890		40395898	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	22.76	95	28	SNP	0.288	A	A	40395898	G	A	40395898	3	1	58	1	0	0	0	0	1	0	0	0	5800	1203	42	3	8806	3	FCGBP	19	40395898	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	635678	40395898	18733085	2070	16453											
FCGBP	8857	genome.wustl.edu	37	chr19	40421199	40421199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgccccgatgctcgttttCcaccagcacccggaaggcag	7	7	11	16	3	0	0	0	0	0	0	2	2	1	1	5	2	3	5	5	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40421199C>T	ENST00000221347.6	-	5	2729	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	908	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCTCGTTTTCCACCAGCACC	0.701																																																	0													24	24	24					19																	40421199		2203	4299	6502	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2722G>A	19.37:g.40421199C>T	ENSP00000221347:p.Glu908Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.E908K	ENST00000221347.6	37	c.2722	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046292	0.75846	.	.	ENSG00000090920	ENST00000221347	T	0.56275	0.47	4.83	4.83	0.62350	von Willebrand factor, type D domain (3);	0.186821	0.34362	N	0.004033	T	0.50000	0.1590	N	0.13235	0.315	0.28786	N	0.899562	D	0.63880	0.993	D	0.71414	0.973	T	0.37384	-0.9708	10	0.07644	T	0.81	.	13.4849	0.61359	0.0:0.8417:0.1583:0.0	.	908	Q9Y6R7	FCGBP_HUMAN	K	908	ENSP00000221347:E908K	ENSP00000221347:E908K	E	-	1	0	FCGBP	45113039	0.669000	0.27502	0.995000	0.50966	0.964000	0.63967	1.050000	0.30404	2.391000	0.81399	0.491000	0.48974	GAA	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.701	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	65	0	C	NM_003890		40421199	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	T	T	40421199	C	T	40421199	3	4	58	1	0	0	0	0	1	0	0	0	5800	864	30	3	13623	3	FCGBP	19	40421199	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	25301	40421199	18707784	2071	16454											
PSMC4	5704	genome.wustl.edu	37	chr19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	CC																															ggtttcagatcggcatcgatINScccccccgaggcgtcctcat																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40480653_40480654insCC	ENST00000157812.2	+	6	789_790	c.591_592insCC	c.(592-594)cccfs	p.P198fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.P167fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614																																					Colon(105;1478 1543 4034 6132 38638)												0																																										SO:0001589	frameshift_variant	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.596_597dupCC	19.37:g.40480658_40480659dupCC	ENSP00000157812:p.Pro198fs		Q96FV5|Q9UBM3|Q9UEX3	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.R199fs	ENST00000157812.2	37	c.591_592	CCDS12547.1	19																																																																																			PSMC4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.614	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1		0	31	0	-	NM_006503		40480654	1	tier1		no_errors	ENST00000157812	ensembl	human	known	74_37	frame_shift_ins	18.18	27	6	INS	0.585:0.996	CC	CC	40480654	-	CC	40480653	7	5	58	1	0	1	1	0	0	0	0	0	12731	1432	50	0	613	0	PSMC4	19	40480653	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	59454	40480653	18648330	2072	16455											
PLD3	23646	genome.wustl.edu	37	chr19	40883777	40883777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagtacatggtgactgaaCgcgccacctacatcggtgag	12	7	11	11	3	0	3	0	3	0	0	1	3	0	3	2	2	3	1	2	2	4	2	rs201893308		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40883777C>T	ENST00000409587.1	+	12	1667	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	PLD3_ENST00000409419.1_Missense_Mutation_p.R424C|PLD3_ENST00000409281.1_Missense_Mutation_p.R424C|PLD3_ENST00000356508.5_Missense_Mutation_p.R424C|PLD3_ENST00000409735.4_Missense_Mutation_p.R424C			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	424	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGTGACTGAACGCGCCACCTA	0.612																																																	0													78	61	67					19																	40883777		2203	4300	6503	SO:0001583	missense	0			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"phospholipase D3"			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1270C>T	19.37:g.40883777C>T	ENSP00000387050:p.Arg424Cys		Q92853|Q9BW87	Missense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.R424C	ENST00000409587.1	37	c.1270	CCDS33027.1	19	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544245	0.65198	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000409735;ENST00000409281	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.32	4.22	0.49857	Phospholipase D/Transphosphatidylase (2);	0.107847	0.64402	D	0.000013	T	0.60689	0.2288	M	0.69358	2.11	0.54753	D	0.999989	D	0.76494	0.999	P	0.60286	0.872	T	0.63915	-0.6529	10	0.72032	D	0.01	-16.2681	11.8295	0.52285	0.2653:0.7347:0.0:0.0	.	424	Q8IV08	PLD3_HUMAN	C	424	ENSP00000386293:R424C;ENSP00000387050:R424C;ENSP00000348901:R424C;ENSP00000386938:R424C;ENSP00000387022:R424C	ENSP00000348901:R424C	R	+	1	0	PLD3	45575617	0.869000	0.29996	0.895000	0.35142	0.707000	0.40811	2.081000	0.41596	2.633000	0.89246	0.655000	0.94253	CGC	PLD3	-	smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	ENSG00000105223		0.612	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLD3	HGNC	protein_coding	OTTHUMT00000327721.1	-	0	40	0	C	NM_012268		40883777	1	tier1	rs201893308	no_errors	ENST00000356508	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.977	T	T	40883777	C	T	40883777	3	4	58	1	0	0	0	0	1	0	0	0	12086	536	19	1	1308	1	PLD3	19	40883777	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	403124	40883777	18245206	2073	16456											
HIPK4	147746	genome.wustl.edu	37	chr19	40895566	40895566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggtagaacttgagggCgtcatggaagaactcaagga	14	6	14	7	1	2	3	2	1	0	2	2	6	2	5	1	4	2	1	1	4	5	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40895566C>T	ENST00000291823.2	-	1	528	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A82T(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AACTTGAGGGCGTCATGGAAG	0.567																																																	2	Substitution - Missense(2)	prostate(2)											117	111	113					19																	40895566		2203	4300	6503	SO:0001583	missense	0			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.244G>A	19.37:g.40895566C>T	ENSP00000291823:p.Ala82Thr		A8K863|Q96M54	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A82T	ENST00000291823.2	37	c.244	CCDS12555.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408311	0.42715	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20069	2.1	5.21	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000083	T	0.08403	0.0209	N	0.05306	-0.075	0.32375	N	0.555297	D	0.53151	0.958	B	0.35413	0.202	T	0.08576	-1.0715	10	0.72032	D	0.01	.	9.1848	0.37163	0.0:0.833:0.0:0.167	.	82	Q8NE63	HIPK4_HUMAN	T	82;47	ENSP00000291823:A82T	ENSP00000291823:A82T	A	-	1	0	HIPK4	45587406	0.306000	0.24490	0.912000	0.35992	0.904000	0.53231	1.732000	0.38146	1.434000	0.47414	0.563000	0.77884	GCC	HIPK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160396		0.567	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	-	0	47	0	C	NM_144685		40895566	-1	tier1	-	no_errors	ENST00000291823	ensembl	human	known	74_37	missense	35.09	37	20	SNP	0.989	T	T	40895566	C	T	40895566	3	4	58	1	0	0	0	0	1	0	0	0	7146	768	27	1	1622	1	HIPK4	19	40895566	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	11789	40895566	18233417	2074	16457											
PRX	57716	genome.wustl.edu	37	chr19	40901307	40901307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatcgagggcaggcagcagGcctgcctccccagccccttt	7	6	12	16	1	0	1	0	0	0	1	2	2	1	1	6	3	3	3	6	3	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40901307G>A	ENST00000324001.7	-	7	3222	c.2952C>T	c.(2950-2952)ggC>ggT	p.G984G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	984					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGCAGCAGGCCTGCCTCCC	0.637																																																	0													43	51	48					19																	40901307		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2952C>T	19.37:g.40901307G>A			Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G984	ENST00000324001.7	37	c.2952	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.637	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	-	0	43	0	G	NM_020956		40901307	-1	tier1	-	no_errors	ENST00000324001	ensembl	human	known	74_37	silent	50.00	11	11	SNP	0.032	A	A	40901307	G	A	40901307	2	1	58	1	0	0	0	0	0	0	0	1	12684	1190	42	3		3	PRX	19	40901307	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5741	40901307	18227676	2075	16458											
SPTBN4	57731	genome.wustl.edu	37	chr19	41055125	41055125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtggaggagtggtacCgcgaggtgggagagctgcag	8	5	21	7	3	0	1	0	0	0	1	0	5	0	3	1	6	3	4	1	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41055125C>T	ENST00000352632.3	+	21	4476	c.4390C>T	c.(4390-4392)Cgc>Tgc	p.R1464C	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R207C|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R140C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1464C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1464C|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1464C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1464					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGTGGTACCGCGAGGTGGG	0.701																																																	0													7	7	7					19																	41055125		2039	4048	6087	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4390C>T	19.37:g.41055125C>T	ENSP00000263373:p.Arg1464Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1464C	ENST00000352632.3	37	c.4390	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305850	0.81247	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.51574	0.7;0.7;0.7;1.32	4.62	4.62	0.57501	.	0.216058	0.31041	N	0.008378	T	0.59362	0.2188	L	0.52011	1.625	0.48185	D	0.999609	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.73708	0.967;0.981;0.886;0.926;0.973	T	0.60994	-0.7152	10	0.66056	D	0.02	.	10.1503	0.42788	0.3137:0.6863:0.0:0.0	.	207;207;140;1464;1464	Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;SPTN4_HUMAN;.	C	1464;1464;1464;207;140	ENSP00000263373:R1464C;ENSP00000340345:R1464C;ENSP00000375879:R207C;ENSP00000375877:R140C	ENSP00000340345:R1464C	R	+	1	0	SPTBN4	45746965	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.270000	0.43355	2.393000	0.81446	0.484000	0.47621	CGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.701	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	20	0	C			41055125	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	41055125	C	T	41055125	3	4	58	1	0	0	0	0	1	0	0	0	15168	652	23	1	4468	1	SPTBN4	19	41055125	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	153818	41055125	18073858	2076	16459											
EGLN2	112398	genome.wustl.edu	37	chr19	41313052	41313052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccccaggtgcatggcGgcctgctgcagatcttccct	4	9	11	17	1	1	1	0	0	1	1	2	1	2	1	5	3	4	3	5	3	0	1	rs375774477		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41313052G>A	ENST00000593726.1	+	3	2001	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	EGLN2_ENST00000594140.1_Missense_Mutation_p.G43S|EGLN2_ENST00000303961.4_Missense_Mutation_p.G325S|EGLN2_ENST00000406058.2_Missense_Mutation_p.G325S|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_Intron			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	325	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGTGCATGGCGGCCTGCTGCA	0.667											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	SER/GLY,SER/GLY	0,4406		0,0,2203	45	45	45		973,973	5.1	1	19		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EGLN2	NM_053046.3,NM_080732.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	325/408,325/408	41313052	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.973G>A	19.37:g.41313052G>A	ENSP00000469686:p.Gly325Ser	900	A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G325S	ENST00000593726.1	37	c.973	CCDS12567.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.294284	0.95546	0.0	1.16E-4	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.78246	-1.16;-1.16	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96326	0.9240	10	0.87932	D	0	-17.814	17.456	0.87607	0.0:0.0:1.0:0.0	.	325	Q96KS0	EGLN2_HUMAN	S	325	ENSP00000307080:G325S;ENSP00000385253:G325S	ENSP00000307080:G325S	G	+	1	0	EGLN2	46004892	1.000000	0.71417	0.977000	0.42913	0.965000	0.64279	9.192000	0.94947	2.644000	0.89710	0.655000	0.94253	GGC	EGLN2	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000269858		0.667	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EGLN2	HGNC	protein_coding	OTTHUMT00000463218.1	-	0	70	0	G			41313052	1	tier1	-	no_errors	ENST00000303961	ensembl	human	known	74_37	missense	52.38	20	22	SNP	1.000	A	A	41313052	G	A	41313052	3	1	58	1	0	0	0	0	1	0	0	0	4983	1116	39	1	983	1	EGLN2	19	41313052	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	257927	41313052	17815931	2077	16460											
AXL	558	genome.wustl.edu	37	chr19	41727120	41727120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctgggacatcagaccttCgtgtcccagcctggctatgt	6	13	10	12	1	2	1	1	0	1	1	4	2	3	2	3	2	1	1	3	2	1	3	rs540192002		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41727120C>T	ENST00000301178.4	+	3	568	c.378C>T	c.(376-378)ttC>ttT	p.F126F	AXL_ENST00000359092.3_Silent_p.F126F|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	126	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATCAGACCTTCGTGTCCCAGC	0.577													C|||	1	0.000199681	0	0	5008	,	,		19008	0		0	False		,,,				2504	0.001																0													133	105	114					19																	41727120		2203	4300	6503	SO:0001819	synonymous_variant	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.378C>T	19.37:g.41727120C>T			Q8N5L2|Q9UD27	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F126	ENST00000301178.4	37	c.378	CCDS12575.1	19																																																																																			AXL	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167601		0.577	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	-	0	120	0	C			41727120	1	tier1	-	no_errors	ENST00000301178	ensembl	human	known	74_37	silent	42.86	64	48	SNP	0.020	T	T	41727120	C	T	41727120	2	4	58	1	0	0	0	0	0	0	0	1	1239	883	31	1		1	AXL	19	41727120	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	414068	41727120	17401863	2078	16461											
AXL	558	genome.wustl.edu	37	chr19	41743933	41743933	+	Frame_Shift_Del	DEL	C	C	-																															tcacctcgcaagcatccgtgCccccccatcagcttcggcta																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41743933delC	ENST00000301178.4	+	7	1058	c.868delC	c.(868-870)cccfs	p.P291fs	AXL_ENST00000593513.1_Frame_Shift_Del_p.P23fs|AXL_ENST00000359092.3_Frame_Shift_Del_p.P291fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	291	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGCATCCGTGCCCCCCCATCA	0.647																																																	0													99	101	100					19																	41743933		2203	4300	6503	SO:0001589	frameshift_variant	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.868delC	19.37:g.41743933delC	ENSP00000301178:p.Pro291fs		Q8N5L2|Q9UD27	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H292fs	ENST00000301178.4	37	c.868	CCDS12575.1	19																																																																																			AXL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000167601		0.647	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2		0	52	0	C			41743933	1	tier1		no_errors	ENST00000301178	ensembl	human	known	74_37	frame_shift_del	21.95	32	9	DEL	1.000	-	-	41743933	C	-	41743933	7	5	58	1	0	1	0	1	0	0	0	0	1239	739	26	0	894	0	AXL	19	41743933	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	16813	41743933	17385050	2079	16462											
HNRNPUL1	11100	genome.wustl.edu	37	chr19	41808818	41808818	+	Frame_Shift_Del	DEL	G	G	-																															gtggcggcttccagaaccgaGggggaggcagcggtggagga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41808818delG	ENST00000392006.3	+	12	2109	c.1936delG	c.(1936-1938)gggfs	p.G648fs	HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.G548fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.G559fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.G648fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.G548fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.G548fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.G534fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	648	5 X 3 AA repeats of R-G-G.|Gly-rich.|Necessary for interaction with TP53.|Necessary for transcription repression.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAGAACCGAGGGGGAGGCAG	0.642																																																	0													36	42	40					19																	41808818		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1936delG	19.37:g.41808818delG	ENSP00000375863:p.Gly648fs		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.G647fs	ENST00000392006.3	37	c.1936	CCDS12576.1	19																																																																																			HNRNPUL1	-	NULL	ENSG00000105323		0.642	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1		0	24	0	G	NM_144732, NM_007040		41808818	1	tier1		no_errors	ENST00000392006	ensembl	human	known	74_37	frame_shift_del	37.50	10	6	DEL	0.979	-	-	41808818	G	-	41808818	7	5	58	1	0	1	0	1	0	0	0	0	7301	1000	35	0	1982	0	HNRNPUL1	19	41808818	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	64885	41808818	17320165	2080	16463											
CD79A	973	genome.wustl.edu	37	chr19	42383610	42383610	+	Frame_Shift_Del	DEL	C	C	-																															actacctccttgcagagccgCcccccaggcccttcctggac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42383610delC	ENST00000221972.3	+	3	570	c.385delC	c.(385-387)cccfs	p.P130fs	CD79A_ENST00000444740.2_Frame_Shift_Del_p.P92fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	130					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.R131fs*61(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TGCAGAGCCGCCCCCCAGGCC	0.677			"O, S"		DLBCL																																			Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	1	Deletion - Frameshift(1)	large_intestine(1)											32	20	24					19																	42383610		2199	4296	6495	SO:0001589	frameshift_variant	0			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.385delC	19.37:g.42383610delC	ENSP00000221972:p.Pro130fs		A0N775|Q53FB8	Frame_Shift_Del	DEL	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom	p.R131fs	ENST00000221972.3	37	c.385	CCDS12589.1	19																																																																																			CD79A	-	NULL	ENSG00000105369		0.677	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79A	HGNC	protein_coding	OTTHUMT00000463058.1		0	35	0	C			42383610	1	tier1		no_errors	ENST00000221972	ensembl	human	known	74_37	frame_shift_del	29.41	24	10	DEL	0.007	-	-	42383610	C	-	42383610	7	5	58	1	0	1	0	1	0	0	0	0	3043	739	26	0	395	0	CD79A	19	42383610	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	574792	42383610	16745373	2081	16464											
ZNF574	64763	genome.wustl.edu	37	chr19	42585085	42585085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgtggcaaagcgttccGtcagagtacccacctgaaag	12	7	11	11	2	1	3	1	1	0	2	2	3	2	3	3	1	2	3	3	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42585085G>A	ENST00000600245.1	+	2	2982	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	ZNF574_ENST00000222339.7_Missense_Mutation_p.R866H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.R776H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AAAGCGTTCCGTCAGAGTACC	0.602																																																	0													129	124	126					19																	42585085		2203	4300	6503	SO:0001583	missense	0			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"Zinc fingers, C2H2-type"	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2327G>A	19.37:g.42585085G>A	ENSP00000469029:p.Arg776His		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R866H	ENST00000600245.1	37	c.2597	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483620	0.44147	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.08102	3.13;3.13	5.37	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.05914	0.0154	L	0.37466	1.105	0.42291	D	0.992138	B;B	0.32939	0.238;0.391	B;B	0.24541	0.043;0.054	T	0.42632	-0.9440	10	0.19147	T	0.46	-16.4837	10.3647	0.44017	0.1628:0.0:0.8372:0.0	.	776;865	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	H	866;776;383	ENSP00000222339:R866H;ENSP00000351939:R776H	ENSP00000222339:R866H	R	+	2	0	ZNF574	47276925	0.002000	0.14202	0.902000	0.35471	0.462000	0.32619	0.704000	0.25661	1.267000	0.44247	-0.259000	0.10710	CGT	ZNF574	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105732		0.602	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	-	0	25	0	G	NM_022752		42585085	1	tier1	-	no_errors	ENST00000222339	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.976	A	A	42585085	G	A	42585085	3	1	58	1	0	0	0	0	1	0	0	0	18054	1145	40	1	2329	1	ZNF574	19	42585085	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	201475	42585085	16543898	2082	16465											
DEDD2	162989	genome.wustl.edu	37	chr19	42713965	42713965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggccggccccgactcCgccgctgccgcttggttggg	2	7	15	17	5	0	0	0	0	0	0	1	1	1	0	6	4	1	3	6	4	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42713965C>T	ENST00000595337.1	-	4	563	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000598727.1_Missense_Mutation_p.R159Q|DEDD2_ENST00000336034.4_Missense_Mutation_p.R154Q|DEDD2_ENST00000596251.1_Missense_Mutation_p.R159Q	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	159					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCCCCGACTCCGCCGCTGCCG	0.667																																																	0													16	20	19					19																	42713965		2022	4038	6060	SO:0001583	missense	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.476G>A	19.37:g.42713965C>T	ENSP00000470082:p.Arg159Gln		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.R159Q	ENST00000595337.1	37	c.476	CCDS12597.1	19	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009987	0.35415	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.81	3.81	0.43845	.	0.057854	0.64402	D	0.000004	T	0.20780	0.0500	N	0.08118	0	0.30726	N	0.747695	D;D	0.56746	0.977;0.961	P;B	0.45753	0.492;0.297	T	0.04752	-1.0929	9	0.44086	T	0.13	-22.9001	8.9565	0.35820	0.2214:0.7786:0.0:0.0	.	154;159	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	Q	159	.	ENSP00000336972:R159Q	R	-	2	0	DEDD2	47405805	0.931000	0.31567	1.000000	0.80357	0.902000	0.53008	1.545000	0.36169	2.426000	0.82243	0.467000	0.42956	CGG	DEDD2	-	NULL	ENSG00000160570		0.667	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	-	0	44	0	C	NM_133328		42713965	-1	tier1	-	no_errors	ENST00000595337	ensembl	human	known	74_37	missense	48.08	27	25	SNP	1.000	T	T	42713965	C	T	42713965	3	4	58	1	0	0	0	0	1	0	0	0	4394	652	23	1	512	1	DEDD2	19	42713965	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	128880	42713965	16415018	2083	16466											
ERF	2077	genome.wustl.edu	37	chr19	42753368	42753368	+	Frame_Shift_Del	DEL	C	C	-																															tgaaggagaagtgggagcctCcccctgagccgctgggcccc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42753368delC	ENST00000222329.4	-	4	1053	c.896delG	c.(895-897)ggafs	p.G300fs	ERF_ENST00000440177.2_Frame_Shift_Del_p.G225fs|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	300					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGGGAGCCTCCCCCTGAGCC	0.677																																																	0													36	40	39					19																	42753368		2201	4297	6498	SO:0001589	frameshift_variant	0			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.896delG	19.37:g.42753368delC	ENSP00000222329:p.Gly300fs		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.G299fs	ENST00000222329.4	37	c.896	CCDS12600.1	19																																																																																			ERF	-	NULL	ENSG00000105722		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1		0	52	0	C	NM_006494		42753368	-1	tier1		no_errors	ENST00000222329	ensembl	human	known	74_37	frame_shift_del	44.12	19	15	DEL	0.941	-	-	42753368	C	-	42753368	7	5	58	1	0	1	0	1	0	0	0	0	5237	855	30	0	754	0	ERF	19	42753368	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	39403	42753368	16375615	2084	16467											
MEGF8	1954	genome.wustl.edu	37	chr19	42838221	42838221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttaacgcctcattccgCttctccctgtgcccgggtgg	3	12	11	15	3	2	0	1	0	1	0	4	0	3	0	4	3	2	2	4	3	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42838221C>T	ENST00000251268.6	+	3	414	c.414C>T	c.(412-414)cgC>cgT	p.R138R	MEGF8_ENST00000334370.4_Silent_p.R138R	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	138	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTCATTCCGCTTCTCCCTGT	0.662																																																	0													35	39	38					19																	42838221		2080	4203	6283	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.414C>T	19.37:g.42838221C>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R138	ENST00000251268.6	37	c.414		19																																																																																			MEGF8	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000105429		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0	77	0	C	NM_001410		42838221	1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	silent	26.23	45	16	SNP	1.000	T	T	42838221	C	T	42838221	2	4	58	1	0	0	0	0	0	0	0	1	9501	784	28	3		3	MEGF8	19	42838221	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	84853	42838221	16290762	2085	16468											
MEGF8	1954	genome.wustl.edu	37	chr19	42857956	42857956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctgctttcgggagtgtgGgggtcgcgccctcctcacca	3	11	13	14	3	1	0	1	0	0	0	5	1	3	1	4	3	1	1	4	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42857956G>T	ENST00000251268.6	+	22	3791	c.3791G>T	c.(3790-3792)gGg>gTg	p.G1264V	MEGF8_ENST00000334370.4_Missense_Mutation_p.G1197V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGGAGTGTGGGGGTCGCGCC	0.682																																																	0													34	36	35					19																	42857956		2203	4300	6503	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.3791G>T	19.37:g.42857956G>T	ENSP00000251268:p.Gly1264Val		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.G1264V	ENST00000251268.6	37	c.3791		19	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669963	0.47677	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20598	2.06;2.06	4.94	4.94	0.65067	CUB (1);	0.146270	0.47852	D	0.000206	T	0.21103	0.0508	N	0.22421	0.69	0.80722	D	1	D;D	0.60575	0.988;0.982	P;P	0.54924	0.676;0.764	T	0.00802	-1.1560	10	0.41790	T	0.15	-18.7679	7.3393	0.26627	0.1787:0.0:0.8213:0.0	.	1264;1197	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	1197;1264	ENSP00000334219:G1197V;ENSP00000251268:G1264V	ENSP00000251268:G1264V	G	+	2	0	MEGF8	47549796	1.000000	0.71417	0.996000	0.52242	0.277000	0.26821	5.072000	0.64389	2.580000	0.87095	0.561000	0.74099	GGG	MEGF8	-	superfamily_CUB_dom,pfscan_CUB_dom	ENSG00000105429		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	58	0	G	NM_001410		42857956	1			no_errors	ENST00000251268	ensembl	human	known	74_37	missense	5.56	50	3	SNP	1.000	T	T	42857956	G	T	42857956	3	4	58	1	0	0	0	0	1	0	0	0	9501	1232	43	3	3672	3	MEGF8	19	42857956	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	19735	42857956	16271027	2086	16469											
ZNF180	7733	genome.wustl.edu	37	chr19	44981824	44981824	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctccatgaattttttCatgtatatgtaggggtgtac	8	17	8	8	0	1	1	1	1	0	0	4	1	4	1	3	2	1	3	3	2	5	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:44981824C>A	ENST00000221327.4	-	5	1155	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	ZNF180_ENST00000391956.4_Nonsense_Mutation_p.E267*|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Nonsense_Mutation_p.E265*|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAATTTTTTCATGTATATGT	0.343																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0													72	78	76					19																	44981824		2203	4298	6501	SO:0001587	stop_gained	0			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"Zinc fingers, C2H2-type", "-"	12970	protein-coding gene	gene with protein product		606740	"zinc finger protein 180 (HHZ168)"				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.874G>T	19.37:g.44981824C>A	ENSP00000221327:p.Glu292*		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E292*	ENST00000221327.4	37	c.874	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345493	0.82022	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	.	.	.	5.08	-1.64	0.08318	.	0.396806	0.18456	N	0.140684	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.012	6.5317	0.22330	0.1198:0.3351:0.4674:0.0776	.	.	.	.	X	292;267	.	ENSP00000221327:E292X	E	-	1	0	ZNF180	49673664	0.495000	0.26051	0.005000	0.12908	0.626000	0.37791	0.128000	0.15810	0.122000	0.18314	0.655000	0.94253	GAA	ZNF180	-	NULL	ENSG00000167384		0.343	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	-	0	59	0	C	NM_013256		44981824	-1	tier1	-	no_errors	ENST00000221327	ensembl	human	known	74_37	nonsense	45.45	41	35	SNP	0.007	A	A	44981824	C	A	44981824	4	1	58	1	0	0	0	0	0	1	0	0	17796	835	29	3	1208	3	ZNF180	19	44981824	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2123868	44981824	14147159	2087	16470											
CBLC	23624	genome.wustl.edu	37	chr19	45295733	45295733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaagattgagccgtgcGggcacctgctctgcagctgc	7	9	14	11	2	1	3	0	2	1	1	1	3	1	3	2	1	6	4	2	1	1	1	rs377703099	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45295733G>A	ENST00000270279.3	+	7	1162	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	CBLC_ENST00000341505.4_Missense_Mutation_p.G321R	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	367	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGAGCCGTGCGGGCACCTGCT	0.617			M		AML								G|||	3	0.000599042	0.0023	0	5008	,	,		18020	0		0	False		,,,				2504	0							Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0								G	ARG/GLY,ARG/GLY	2,4404		0,2,2201	77	71	73		961,1099	4	0.6	19		73	0,8600		0,0,4300	no	missense,missense	CBLC	NM_001130852.1,NM_012116.3	125,125	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	321/429,367/475	45295733	2,13004	2203	4300	6503	SO:0001583	missense	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1099G>A	19.37:g.45295733G>A	ENSP00000270279:p.Gly367Arg		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.G367R	ENST00000270279.3	37	c.1099	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	12.20	1.866817	0.32977	4.54E-4	0.0	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.97772	-4.53;-4.53	4.0	4.0	0.46444	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.42420	D	0.000715	D	0.97554	0.9199	M	0.67569	2.06	0.58432	D	0.999998	D;D	0.71674	0.993;0.998	P;P	0.54060	0.741;0.633	D	0.97860	1.0280	10	0.87932	D	0	-31.6355	13.9959	0.64402	0.0:0.0:1.0:0.0	.	321;367	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	R	367;321	ENSP00000270279:G367R;ENSP00000340250:G321R	ENSP00000270279:G367R	G	+	1	0	CBLC	49987573	1.000000	0.71417	0.643000	0.29450	0.008000	0.06430	5.351000	0.66022	2.256000	0.74724	0.551000	0.68910	GGG	CBLC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000142273		0.617	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	-	0	41	0	G	NM_012116		45295733	1	tier1	-	no_errors	ENST00000270279	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.996	A	A	45295733	G	A	45295733	3	1	58	1	0	0	0	0	1	0	0	0	2709	1116	39	1	1125	1	CBLC	19	45295733	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	313909	45295733	13833250	2088	16471											
SFRS16	11129	genome.wustl.edu	37	chr19	45567329	45567329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccccgaccccgggccGcgaggagaagatcacgttca	8	4	12	17	6	2	2	2	0	0	2	3	5	3	2	6	2	0	2	6	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45567329G>A	ENST00000221455.3	+	12	1063	c.965G>A	c.(964-966)cGc>cAc	p.R322H	CLASRP_ENST00000544944.2_Missense_Mutation_p.R322H|CLASRP_ENST00000391953.4_Missense_Mutation_p.R260H	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	322					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ACCCCGGGCCGCGAGGAGAAG	0.677																																																	0													17	22	20					19																	45567329		2202	4297	6499	SO:0001583	missense	0			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"Clk4 associating SR-related protein"		"splicing factor, arginine/serine-rich 16"	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.965G>A	19.37:g.45567329G>A	ENSP00000221455:p.Arg322His		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	pfam_SWAP_N_domain	p.R322H	ENST00000221455.3	37	c.965	CCDS12652.2	19	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051236	0.55218	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.11604	2.77;2.76;2.77;2.77	4.69	3.58	0.41010	.	0.000000	0.36002	U	0.002852	T	0.14485	0.0350	N	0.14661	0.345	0.42336	D	0.992318	D;P;P	0.76494	0.999;0.934;0.762	D;B;B	0.65573	0.936;0.071;0.01	T	0.07214	-1.0784	10	0.46703	T	0.11	-8.8659	11.2802	0.49190	0.0:0.0:0.817:0.183	.	260;322;322	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	H	322;322;260;322	ENSP00000221455:R322H;ENSP00000375814:R322H;ENSP00000375815:R260H;ENSP00000438702:R322H	ENSP00000221455:R322H	R	+	2	0	CLASRP	50259169	1.000000	0.71417	0.886000	0.34754	0.923000	0.55619	4.089000	0.57685	2.168000	0.68352	0.462000	0.41574	CGC	CLASRP	-	NULL	ENSG00000104859		0.677	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	-	0	30	0	G	NM_007056		45567329	1	tier1	-	no_errors	ENST00000221455	ensembl	human	known	74_37	missense	63.04	17	29	SNP	0.963	A	A	45567329	G	A	45567329	3	1	58	1	0	0	0	0	1	0	0	0	14217	1087	38	1	1007	1	SFRS16	19	45567329	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	271596	45567329	13561654	2089	16472											
MARK4	57787	genome.wustl.edu	37	chr19	45790780	45790780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagctgaaggaggagcGgctgccaggccggaaggcga	9	2	21	9	4	0	1	0	1	0	0	0	6	0	5	2	8	3	2	2	8	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45790780G>A	ENST00000262891.4	+	13	1683	c.1352G>A	c.(1351-1353)cGg>cAg	p.R451Q	MARK4_ENST00000300843.4_Missense_Mutation_p.R451Q	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	451					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AAGGAGGAGCGGCTGCCAGGC	0.711																																																	0													15	18	17					19																	45790780		2179	4273	6452	SO:0001583	missense	0			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1352G>A	19.37:g.45790780G>A	ENSP00000262891:p.Arg451Gln		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R451Q	ENST00000262891.4	37	c.1352	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741352	0.49151	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.28895	1.59;1.59	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.36826	0.0981	L	0.58101	1.795	0.49582	D	0.999802	B;D;D	0.56521	0.015;0.96;0.976	B;B;P	0.49140	0.004;0.397;0.601	T	0.07481	-1.0770	10	0.12430	T	0.62	.	15.9528	0.79855	0.0:0.0:1.0:0.0	.	317;451;451	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	Q	451	ENSP00000262891:R451Q;ENSP00000300843:R451Q	ENSP00000262891:R451Q	R	+	2	0	MARK4	50482620	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.909000	0.75735	2.645000	0.89757	0.591000	0.81541	CGG	MARK4	-	NULL	ENSG00000007047		0.711	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	HGNC	protein_coding	OTTHUMT00000457537.1	-	0	47	0	G	NM_031417		45790780	1	tier1	-	no_errors	ENST00000262891	ensembl	human	known	74_37	missense	41.67	21	15	SNP	1.000	A	A	45790780	G	A	45790780	3	1	58	1	0	0	0	0	1	0	0	0	9353	1116	39	1	1402	1	MARK4	19	45790780	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	223451	45790780	13338203	2090	16473											
CD3EAP	10849	genome.wustl.edu	37	chr19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-																															atgtgcggaagaagaagaagAaaaaaaatcagcagctgaaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45911872delA	ENST00000309424.3	+	3	1134	c.646delA	c.(646-648)aaafs	p.K217fs	ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Frame_Shift_Del_p.K219fs|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GAAGAAGAAGAAAAAAAATCA	0.587																																																	0													65	78	73					19																	45911872		2203	4300	6503	SO:0001589	frameshift_variant	0			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.646delA	19.37:g.45911872delA	ENSP00000310966:p.Lys217fs		Q32N11|Q7Z5U2|Q9UPF6	Frame_Shift_Del	DEL	pfam_DNA-dir_RNA_pol1_su_RPA34	p.N220fs	ENST00000309424.3	37	c.652	CCDS12661.1	19																																																																																			CD3EAP	-	pfam_DNA-dir_RNA_pol1_su_RPA34	ENSG00000117877		0.587	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1		0	50	0	A	NM_012099		45911872	1	tier1		no_errors	ENST00000589804	ensembl	human	known	74_37	frame_shift_del	35.00	13	7	DEL	0.178	-	-	45911872	A	-	45911872	7	5	58	1	0	1	0	1	0	0	0	0	3019	247	9	0	656	0	CD3EAP	19	45911872	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	121092	45911872	13217111	2091	16474											
FBXO46	23403	genome.wustl.edu	37	chr19	46215043	46215043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagccgggagtctcgcGgtcggctcgacggcagcaca	6	4	17	14	7	1	0	0	0	1	0	4	2	1	1	1	5	2	4	1	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:46215043G>A	ENST00000317683.3	-	2	1844	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	571										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGTCTCGCGGTCGGCTCGA	0.701																																																	0													21	27	25					19																	46215043		2045	4183	6228	SO:0001583	missense	0			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1711C>T	19.37:g.46215043G>A	ENSP00000410007:p.Arg571Cys			Missense_Mutation	SNP	superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R571C	ENST00000317683.3	37	c.1711	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506713	0.26949	.	.	ENSG00000177051	ENST00000317683	T	0.21191	2.02	4.56	0.846	0.18955	F-box domain, Skp2-like (1);	.	.	.	.	T	0.27027	0.0662	N	0.22421	0.69	0.09310	N	0.99999	D	0.89917	1.0	P	0.62184	0.899	T	0.19943	-1.0290	9	0.87932	D	0	-17.8003	10.9847	0.47516	0.0:0.0:0.3865:0.6135	.	571	Q6PJ61	FBX46_HUMAN	C	571	ENSP00000410007:R571C	ENSP00000410007:R571C	R	-	1	0	FBXO46	50906883	0.984000	0.35163	0.001000	0.08648	0.744000	0.42396	4.454000	0.60068	0.608000	0.30000	0.467000	0.42956	CGC	FBXO46	-	superfamily_F-box_dom	ENSG00000177051		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	-	0	93	0	G	XM_371179		46215043	-1	tier1	-	no_errors	ENST00000317683	ensembl	human	known	74_37	missense	46.97	35	31	SNP	0.016	A	A	46215043	G	A	46215043	3	1	58	1	0	0	0	0	1	0	0	0	5777	1116	39	1	104	1	FBXO46	19	46215043	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	303171	46215043	12913940	2092	16475											
FBXO46	23403	genome.wustl.edu	37	chr19	46215926	46215926	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccccactgggcaggccGctgtctggtgcacggggctc	3	6	15	17	3	1	0	0	0	1	0	2	0	1	0	4	5	1	4	4	5	0	0	rs374381361		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:46215926G>A	ENST00000317683.3	-	2	961	c.828C>T	c.(826-828)agC>agT	p.S276S		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	276										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGGGCAGGCCGCTGTCTGGTG	0.701													G|||	1	0.000199681	8e-04	0	5008	,	,		13106	0		0	False		,,,				2504	0																0								G		0,3870		0,0,1935	19	23	22		828	0.7	0	19		22	1,8215		0,1,4107	no	coding-synonymous	FBXO46	NM_001080469.1		0,1,6042	AA,AG,GG		0.0122,0.0,0.0083		276/604	46215926	1,12085	1935	4108	6043	SO:0001819	synonymous_variant	0			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"F-boxes /  "other""	25069	protein-coding gene	gene with protein product		609117	"F-box only protein 34-like"	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.828C>T	19.37:g.46215926G>A				Silent	SNP	superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.S276	ENST00000317683.3	37	c.828	CCDS46116.1	19																																																																																			FBXO46	-	NULL	ENSG00000177051		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1		0	11	0	G	XM_371179		46215926	-1			no_errors	ENST00000317683	ensembl	human	known	74_37	silent	66.67	2	4	SNP	0.988	A	A	46215926	G	A	46215926	2	1	58	1	0	0	0	0	0	0	0	1	5777	1078	38	1		1	FBXO46	19	46215926	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	883	46215926	12913057	2093	16476											
PRKD2	25865	genome.wustl.edu	37	chr19	47177940	47177940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactctcatgcgtgatgtatCgctctcccatcttcccctcc	5	13	5	18	2	3	1	1	1	3	0	8	1	5	1	4	0	1	2	4	0	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:47177940C>T	ENST00000291281.4	-	18	2702	c.2477G>A	c.(2476-2478)cGa>cAa	p.R826Q	DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.R826Q|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.R836Q|PRKD2_ENST00000600194.1_Missense_Mutation_p.R669Q|PRKD2_ENST00000601806.1_Missense_Mutation_p.R669Q			Q9BZL6	KPCD2_HUMAN	protein kinase D2	826					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGTGATGTATCGCTCTCCCAT	0.627																																																	0													78	56	63					19																	47177940		2203	4300	6503	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2477G>A	19.37:g.47177940C>T	ENSP00000291281:p.Arg826Gln		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R826Q	ENST00000291281.4	37	c.2477	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.718310	0.96839	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68331	-0.32;-0.32	4.79	4.79	0.61399	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	D	0.82416	0.5032	M	0.82056	2.57	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.986;0.929;1.0	D	0.84104	0.0397	10	0.51188	T	0.08	-38.2987	16.9757	0.86312	0.0:1.0:0.0:0.0	.	836;311;826	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	Q	826	ENSP00000291281:R826Q;ENSP00000393978:R826Q	ENSP00000291281:R826Q	R	-	2	0	PRKD2	51869780	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.723000	0.84788	2.367000	0.80283	0.655000	0.94253	CGA	PRKD2	-	superfamily_Kinase-like_dom	ENSG00000105287		0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0	35	0	C	NM_016457		47177940	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	T	T	47177940	C	T	47177940	3	4	58	1	0	0	0	0	1	0	0	0	12561	884	31	1	163	1	PRKD2	19	47177940	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	962014	47177940	11951043	2094	16477											
C5AR1	728	genome.wustl.edu	37	chr19	47824042	47824042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagagcaagtcattcacGcgctccacagtggacactat	12	7	11	11	2	2	1	2	0	0	1	3	3	3	2	1	2	1	2	1	2	2	2	rs142511245		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:47824042G>A	ENST00000355085.3	+	2	1030	c.1008G>A	c.(1006-1008)acG>acA	p.T336T		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	336					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		AGTCATTCACGCGCTCCACAG	0.627																																																	0								G		0,4406		0,0,2203	52	51	51		1008	-5.9	0	19	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5AR1	NM_001736.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		336/351	47824042	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"CD molecules", "Complement system", "GPCR / Class A : Complement component receptors"	1338	protein-coding gene	gene with protein product		113995	"complement component 5 receptor 1 (C5a ligand)"	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.1008G>A	19.37:g.47824042G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt	p.T336	ENST00000355085.3	37	c.1008	CCDS33063.1	19																																																																																			C5AR1	-	prints_Anaphtx_C5AR1/C5AR2	ENSG00000197405		0.627	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	-	0	31	0	G	NM_001736		47824042	1	tier1	rs142511245	no_errors	ENST00000355085	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.000	A	A	47824042	G	A	47824042	2	1	58	1	0	0	0	0	0	0	0	1	2288	1074	38	1		1	C5AR1	19	47824042	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	646102	47824042	11304941	2095	16478											
DHX34	9704	genome.wustl.edu	37	chr19	47884244	47884244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctcacctacaactgcCtcacggtaagcatgaaccct	11	9	5	16	1	2	1	2	1	0	0	3	1	3	1	4	1	5	2	4	1	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:47884244C>A	ENST00000328771.4	+	15	3503	c.3154C>A	c.(3154-3156)Ctc>Atc	p.L1052I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1052					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTACAACTGCCTCACGGTAAG	0.597																																																	0													69	62	64					19																	47884244		2203	4300	6503	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3154C>A	19.37:g.47884244C>A	ENSP00000331907:p.Leu1052Ile		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1052I	ENST00000328771.4	37	c.3154	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816853	0.70912	.	.	ENSG00000134815	ENST00000328771	T	0.04015	3.73	4.41	4.41	0.53225	.	0.000000	0.50627	D	0.000120	T	0.13543	0.0328	L	0.55213	1.73	0.49915	D	0.999833	D	0.67145	0.996	P	0.57283	0.817	T	0.01508	-1.1337	10	0.41790	T	0.15	-41.2816	16.269	0.82606	0.0:1.0:0.0:0.0	.	1052	Q14147	DHX34_HUMAN	I	1052	ENSP00000331907:L1052I	ENSP00000331907:L1052I	L	+	1	0	DHX34	52576075	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.750000	0.55157	2.440000	0.82611	0.561000	0.74099	CTC	DHX34	-	NULL	ENSG00000134815		0.597	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	-	0	28	0	C	NM_014681		47884244	1	tier1	-	no_errors	ENST00000328771	ensembl	human	known	74_37	missense	48.00	13	12	SNP	1.000	A	A	47884244	C	A	47884244	3	1	58	1	0	0	0	0	1	0	0	0	4521	681	24	3	3208	3	DHX34	19	47884244	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	60202	47884244	11244739	2096	16479											
SYNGR4	23546	genome.wustl.edu	37	chr19	48878957	48878957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagagttcctcctggggaGcagcagtgcccaggcagcca	10	5	13	13	0	0	1	0	0	0	1	2	2	2	2	4	3	4	4	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:48878957G>A	ENST00000344846.2	+	4	669	c.419G>A	c.(418-420)aGc>aAc	p.S140N	SYNGR4_ENST00000601610.1_Missense_Mutation_p.S91N|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	140	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CTCCTGGGGAGCAGCAGTGCC	0.607																																																	0													96	87	90					19																	48878957		2203	4300	6503	SO:0001583	missense	0			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.419G>A	19.37:g.48878957G>A	ENSP00000344041:p.Ser140Asn		Q3KP58	Missense_Mutation	SNP	pfam_Marvel,pirsf_Synaptogyrin	p.S140N	ENST00000344846.2	37	c.419	CCDS12717.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366724	0.24771	.	.	ENSG00000105467	ENST00000344846	T	0.25250	1.81	4.53	-1.36	0.09085	Marvel (1);MARVEL-like domain (1);	0.397675	0.29806	N	0.011159	T	0.21761	0.0524	M	0.72118	2.19	0.20074	N	0.999939	B	0.12630	0.006	B	0.14578	0.011	T	0.18335	-1.0340	10	0.32370	T	0.25	-0.8982	6.1413	0.20261	0.4059:0.1291:0.465:0.0	.	140	O95473	SNG4_HUMAN	N	140	ENSP00000344041:S140N	ENSP00000344041:S140N	S	+	2	0	SYNGR4	53570769	0.680000	0.27605	0.996000	0.52242	0.904000	0.53231	0.752000	0.26362	-0.001000	0.14495	0.555000	0.69702	AGC	SYNGR4	-	pfam_Marvel,pirsf_Synaptogyrin	ENSG00000105467		0.607	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	HGNC	protein_coding	OTTHUMT00000465704.1	-	0	57	0	G			48878957	1	tier1	-	no_errors	ENST00000344846	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.492	A	A	48878957	G	A	48878957	3	1	58	1	0	0	0	0	1	0	0	0	15498	971	34	3	429	3	SYNGR4	19	48878957	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	994713	48878957	10250026	2097	16480											
FAM83E	54854	genome.wustl.edu	37	chr19	49113185	49113185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcacaaacttctcccGcacggtgccgctcacctgcc	8	6	8	19	3	2	0	1	0	1	0	3	0	2	0	4	1	5	4	4	1	1	1	rs200129085	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49113185G>A	ENST00000263266.3	-	3	895	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	236										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AACTTCTCCCGCACGGTGCCG	0.667																																																	0													22	27	25					19																	49113185		2104	4215	6319	SO:0001583	missense	0			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.706C>T	19.37:g.49113185G>A	ENSP00000263266:p.Arg236Trp		Q9NXK1	Missense_Mutation	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R236W	ENST00000263266.3	37	c.706	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561719	0.65538	.	.	ENSG00000105523	ENST00000263266	T	0.21734	1.99	4.66	2.11	0.27256	.	0.096945	0.47455	D	0.000225	T	0.34600	0.0903	M	0.63843	1.955	0.26992	N	0.965115	D	0.76494	0.999	P	0.60886	0.88	T	0.05435	-1.0885	10	0.66056	D	0.02	-24.7409	8.9588	0.35834	0.0:0.0:0.5161:0.4839	.	236	Q2M2I3	FA83E_HUMAN	W	236	ENSP00000263266:R236W	ENSP00000263266:R236W	R	-	1	2	FAM83E	53804997	0.934000	0.31675	0.247000	0.24249	0.891000	0.51852	1.014000	0.29950	1.058000	0.40530	0.555000	0.69702	CGG	FAM83E	-	pfam_DUF1669	ENSG00000105523		0.667	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	-	0	77	0	G	NM_017708		49113185	-1	tier1	-	no_errors	ENST00000263266	ensembl	human	known	74_37	missense	34.48	38	20	SNP	0.882	A	A	49113185	G	A	49113185	3	1	58	1	0	0	0	0	1	0	0	0	5659	1086	38	1	742	1	FAM83E	19	49113185	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	234228	49113185	10015798	2098	16481											
RASIP1	54922	genome.wustl.edu	37	chr19	49238616	49238616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctccgctcctgcTgccgccgccgccgcccctga	1	8	10	22	5	1	1	0	1	1	0	3	1	2	1	9	0	3	3	9	0	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49238616T>C	ENST00000222145.4	-	4	1220	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	339					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCGCTCCTGCTGCCGCCGCCG	0.657																																																	0													21	22	22					19																	49238616		2201	4298	6499	SO:0001583	missense	0			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1016A>G	19.37:g.49238616T>C	ENSP00000222145:p.Gln339Arg		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.Q339R	ENST00000222145.4	37	c.1016	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046298	0.55110	.	.	ENSG00000105538	ENST00000222145	T	0.07216	3.21	5.27	5.27	0.74061	.	0.309004	0.30901	N	0.008659	T	0.09069	0.0224	L	0.40543	1.245	0.30641	N	0.75642	P	0.37864	0.61	B	0.37989	0.262	T	0.04509	-1.0946	10	0.48119	T	0.1	-10.7772	11.8741	0.52537	0.0:0.0:0.0:1.0	.	339	Q5U651	RAIN_HUMAN	R	339	ENSP00000222145:Q339R	ENSP00000222145:Q339R	Q	-	2	0	RASIP1	53930428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.450000	0.35134	2.126000	0.65437	0.459000	0.35465	CAG	RASIP1	-	NULL	ENSG00000105538		0.657	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	-	0	102	0	T	NM_017805		49238616	-1	tier1	-	no_errors	ENST00000222145	ensembl	human	known	74_37	missense	34.33	44	23	SNP	1.000	C	C	49238616	T	C	49238616	3	2	58	1	0	0	0	0	1	0	0	0	13123	1580	55	4	1911	4	RASIP1	19	49238616	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	125431	49238616	9890367	2099	16482											
PLEKHA4	57664	genome.wustl.edu	37	chr19	49341300	49341300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgtgccactgcgacGcctcagtagccagggcttgg	6	10	12	13	2	3	0	2	0	1	0	3	1	3	0	3	2	3	2	3	2	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49341300G>A	ENST00000263265.6	-	19	2606	c.2051C>T	c.(2050-2052)gCg>gTg	p.A684V	HSD17B14_ENST00000599157.1_5'Flank|HSD17B14_ENST00000263278.4_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	684						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCACTGCGACGCCTCAGTAGC	0.567																																																	0													80	84	83					19																	49341300		2203	4300	6503	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2051C>T	19.37:g.49341300G>A	ENSP00000263265:p.Ala684Val		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A684V	ENST00000263265.6	37	c.2051	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	g	15.67	2.901299	0.52227	.	.	ENSG00000105559	ENST00000263265	T	0.25912	1.77	3.97	3.97	0.46021	.	0.434861	0.16906	N	0.194685	T	0.35393	0.0930	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.11012	-1.0605	10	0.62326	D	0.03	.	11.8631	0.52478	0.0:0.0:1.0:0.0	.	684	Q9H4M7	PKHA4_HUMAN	V	684	ENSP00000263265:A684V	ENSP00000263265:A684V	A	-	2	0	PLEKHA4	54033112	0.998000	0.40836	0.955000	0.39395	0.594000	0.36715	4.274000	0.58921	2.266000	0.75297	0.546000	0.68486	GCG	PLEKHA4	-	NULL	ENSG00000105559		0.567	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	-	0	103	0	G			49341300	-1	tier1	-	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	34.62	68	36	SNP	0.964	A	A	49341300	G	A	49341300	3	1	58	1	0	0	0	0	1	0	0	0	12097	1087	38	1	296	1	PLEKHA4	19	49341300	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	102684	49341300	9787683	2100	16483											
SNRNP70	6625	genome.wustl.edu	37	chr19	49610906	49610906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcctcggtggtaccagaaGaggaggggctgatgtgaaca	11	6	17	7	1	0	4	0	2	0	2	1	5	0	5	2	6	2	2	2	6	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49610906G>A	ENST00000598441.1	+	9	826	c.602G>A	c.(601-603)aGa>aAa	p.R201K	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R201K			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	201					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGTACCAGAAGAGGAGGGGCT	0.647																																																	0													63	64	64					19																	49610906		2203	4300	6503	SO:0001583	missense	0				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.602G>A	19.37:g.49610906G>A	ENSP00000472998:p.Arg201Lys		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R201K	ENST00000598441.1	37	c.602	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042069	0.55003	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	T	0.75367	-0.93	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	N	0.21282	0.65	0.80722	D	1	B;B	0.30455	0.179;0.28	B;B	0.34722	0.064;0.188	T	0.57260	-0.7842	10	0.08837	T	0.75	-7.1442	15.7987	0.78433	0.0:0.0:1.0:0.0	.	201;201	P08621;P08621-2	RU17_HUMAN;.	K	201;105	ENSP00000221448:R201K	ENSP00000221448:R201K	R	+	2	0	SNRNP70	54302718	1.000000	0.71417	0.999000	0.59377	0.537000	0.34900	6.703000	0.74633	2.095000	0.63458	0.462000	0.41574	AGA	SNRNP70	-	NULL	ENSG00000104852		0.647	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1	-	0	71	0	G	NM_003089		49610906	1	tier1	-	no_errors	ENST00000598441	ensembl	human	known	74_37	missense	50.65	37	39	SNP	1.000	A	A	49610906	G	A	49610906	3	1	58	1	0	0	0	0	1	0	0	0	14903	942	33	3	632	3	SNRNP70	19	49610906	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	269606	49610906	9518077	2101	16484											
SLC17A7	57030	genome.wustl.edu	37	chr19	49934034	49934034	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccatagtgcaccagggaGgcaattaggaacacgtactg	12	7	11	11	1	0	0	0	0	0	0	1	2	1	2	3	3	3	3	3	3	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49934034G>T	ENST00000221485.3	-	12	1596	c.1425C>A	c.(1423-1425)gcC>gcA	p.A475A	SLC17A7_ENST00000600601.1_Silent_p.A408A|SLC17A7_ENST00000543531.1_Silent_p.A463A	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	475					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCACCAGGGAGGCAATTAGGA	0.572																																																	0													80	70	73					19																	49934034		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1425C>A	19.37:g.49934034G>T			B4DFR9|B4DG46|Q6PCD0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A475	ENST00000221485.3	37	c.1425	CCDS12764.1	19																																																																																			SLC17A7	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000104888		0.572	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	-	0	50	0	G			49934034	-1	tier1	-	no_errors	ENST00000221485	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	49934034	G	T	49934034	2	4	58	1	0	0	0	0	0	0	0	1	14467	987	35	3		3	SLC17A7	19	49934034	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	323128	49934034	9194949	2102	16485											
PRR12	57479	genome.wustl.edu	37	chr19	50119416	50119416	+	Frame_Shift_Del	DEL	G	G	-																															gcggcaacgctacagcaggcGggggcccaccaggcagctcc																								rs575045686	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50119416delG	ENST00000418929.2	+	9	5449	c.5437delG	c.(5437-5439)gggfs	p.G1814fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	993							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TACAGCAGGCGGGGGCCCACC	0.687																																																	0													9	13	11					19																	50119416		2027	4141	6168	SO:0001589	frameshift_variant	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5437delG	19.37:g.50119416delG	ENSP00000394510:p.Gly1814fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	NULL	p.G1814fs	ENST00000418929.2	37	c.5437	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1		0	64	0	G	NM_020719		50119416	1	tier1		no_errors	ENST00000418929	ensembl	human	novel	74_37	frame_shift_del	47.37	30	27	DEL	0.759	-	-	50119416	G	-	50119416	7	5	58	1	0	1	0	1	0	0	0	0	12626	1116	39	0	5471	0	PRR12	19	50119416	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	185382	50119416	9009567	2103	16486											
PTOV1	53635	genome.wustl.edu	37	chr19	50363527	50363527	+	Frame_Shift_Del	DEL	G	G	-																															tctgatttctcgccgtagatGggggggtagtggttaccccg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50363527delG	ENST00000601675.1	+	12	1346	c.1242delG	c.(1240-1242)atgfs	p.M414fs	PTOV1_ENST00000600603.1_Frame_Shift_Del_p.W359fs|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000391842.1_Frame_Shift_Del_p.M414fs|PTOV1_ENST00000221557.9_Frame_Shift_Del_p.W359fs|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000599732.1_Frame_Shift_Del_p.M414fs|PTOV1_ENST00000601638.1_Frame_Shift_Del_p.M382fs			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	414	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCCGTAGATGGGGGGGTAGT	0.657																																																	1	Deletion - Frameshift(1)	large_intestine(1)											24	26	25					19																	50363527		2203	4300	6503	SO:0001589	frameshift_variant	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1242delG	19.37:g.50363527delG	ENSP00000472816:p.Met414fs		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Frame_Shift_Del	DEL	pfam_Mediator_Med25	p.*417fs	ENST00000601675.1	37	c.1242	CCDS12782.1	19																																																																																			PTOV1	-	NULL	ENSG00000104960		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1		0	52	0	G	NM_017432		50363527	1	tier1		no_errors	ENST00000391842	ensembl	human	known	74_37	frame_shift_del	33.33	26	13	DEL	1.000	-	-	50363527	G	-	50363527	7	5	58	1	0	1	0	1	0	0	0	0	12812	1348	47	0	1288	0	PTOV1	19	50363527	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	244111	50363527	8765456	2104	16487											
MYH14	79784	genome.wustl.edu	37	chr19	50783570	50783570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggcagccgggctgcGtgagcagctggaggaggagg	7	4	22	8	2	0	2	0	2	0	0	0	5	0	5	1	7	4	5	1	7	0	0	rs553162373	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50783570G>A	ENST00000596571.1	+	29	4097	c.4097G>A	c.(4096-4098)cGt>cAt	p.R1366H	MYH14_ENST00000440075.2_Missense_Mutation_p.R1407H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1407H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1399H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1407H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1374H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1374H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1366					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCGGGCTGCGTGAGCAGCTG	0.667													G|||	2	0.000399361	0	0.0014	5008	,	,		16724	0.001		0	False		,,,				2504	0																0													10	14	13					19																	50783570		1638	3289	4927	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4097G>A	19.37:g.50783570G>A	ENSP00000472819:p.Arg1366His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1407H	ENST00000596571.1	37	c.4220	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975985	0.34848	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	3.41	2.37	0.29283	Myosin tail (1);	.	.	.	.	D	0.85146	0.5630	L	0.48877	1.53	0.26407	N	0.976328	D;D;D	0.67145	0.996;0.985;0.989	P;P;P	0.56865	0.808;0.806;0.707	T	0.74609	-0.3608	9	0.87932	D	0	.	5.5978	0.17337	0.2553:0.0:0.7447:0.0	.	1407;1366;1374	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1366;1407;1399;1374;1407	ENSP00000406273:R1407H;ENSP00000366169:R1399H;ENSP00000407879:R1374H;ENSP00000262269:R1407H	ENSP00000262269:R1407H	R	+	2	0	MYH14	55475382	0.000000	0.05858	0.997000	0.53966	0.171000	0.22731	0.145000	0.16157	0.779000	0.33543	0.455000	0.32223	CGT	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0	78	0	G	NM_024729		50783570	1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	38.18	34	21	SNP	0.992	A	A	50783570	G	A	50783570	3	1	58	1	0	0	0	0	1	0	0	0	10071	1145	40	1	4342	1	MYH14	19	50783570	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	420043	50783570	8345413	2105	16488											
POLD1	5424	genome.wustl.edu	37	chr19	50919866	50919866	+	Splice_Site	DEL	G	G	-																															cacctgcctcctctcctgcaGggggggaccacacgcgctgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50919866delG	ENST00000440232.2	+	24	3006		c.e24-1		SPIB_ENST00000595883.1_5'Flank|CTD-2545M3.6_ENST00000599632.1_Splice_Site|SPIB_ENST00000439922.2_5'Flank|POLD1_ENST00000595904.1_Splice_Site|SPIB_ENST00000270632.7_5'Flank|SPIB_ENST00000596074.1_5'Flank|POLD1_ENST00000599857.1_Splice_Site|SPIB_ENST00000597855.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit						base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTCTCCTGCAGGGGGGGACCA	0.701								DNA polymerases (catalytic subunits)																																									0													7	10	9					19																	50919866		2163	4251	6414	SO:0001630	splice_region_variant	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"DNA polymerases"	9175	protein-coding gene	gene with protein product	"CDC2 homolog (S. cerevisiae)"	174761	"polymerase (DNA directed), delta 1, catalytic subunit (125kD)"	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2954-1G>-	19.37:g.50919866delG			Q8NER3|Q96H98	Splice_Site	DEL	-	e23-1	ENST00000440232.2	37	c.2954-1	CCDS12795.1	19																																																																																			POLD1	-	-	ENSG00000062822		0.701	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1		0	13	0	G		Intron	50919866	1	tier1		no_errors	ENST00000440232	ensembl	human	known	74_37	splice_site_del	36.36	7	4	DEL	1.000	-	-	50919866	G	-	50919866	8	5	58	1	0	1	0	1	0	0	1	0	12229	1014	35	0	3043	0	POLD1	19	50919866	Splice_Site	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	136296	50919866	8209117	2106	16489											
CEACAM18	729767	genome.wustl.edu	37	chr19	51981849	51981849	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagggagcagaggaggtgGctgtgtctctggagggaccc	7	7	20	7	0	1	1	0	0	1	1	2	6	1	6	1	7	1	2	1	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:51981849G>A	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Missense_Mutation_p.A46T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAGGAGGTGGCTGTGTCTCT	0.647																																																	0													28	33	31					19																	51981849		1989	4153	6142	SO:0001631	upstream_gene_variant	0					19q13.41	2013-01-29				ENSG00000213822		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981849G>A	Exception_encountered		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A46T	ENST00000396477.4	37	c.136		19	.	.	.	.	.	.	.	.	.	.	.	15.38	2.814999	0.50527	.	.	ENSG00000213822	ENST00000451626	T	0.07444	3.19	2.41	-1.19	0.09585	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.46748	-0.9169	9	0.10377	T	0.69	.	2.4638	0.04547	0.2874:0.0:0.4799:0.2327	.	46	A8MTB9	CEA18_HUMAN	T	46	ENSP00000402203:A46T	ENSP00000402203:A46T	A	+	1	0	CEACAM18	56673661	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.940000	0.03929	-0.145000	0.11294	0.655000	0.94253	GCT	CEACAM18	-	NULL	ENSG00000213822		0.647	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0	64	0	G			51981849	1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.000	A	A	51981849	G	A	51981849	1	1	58	0	1	0	0	0	0	0	0	0	3196	1203	42	3		3	CEACAM18	19	51981849	5'Flank	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1061983	51981849	7147134	2107	16490											
ZNF836	162962	genome.wustl.edu	37	chr19	52659253	52659253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccactgtaattgaagacCttgccacacacattacattt	12	14	4	11	0	0	2	0	1	0	1	1	2	1	2	3	0	2	1	3	0	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:52659253C>A	ENST00000322146.8	-	5	2204	c.1683G>T	c.(1681-1683)aaG>aaT	p.K561N	ZNF836_ENST00000597252.1_Missense_Mutation_p.K561N|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AATTGAAGACCTTGCCACACA	0.388																																																	0													170	180	177					19																	52659253		2055	4243	6298	SO:0001583	missense	0			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"Zinc fingers, C2H2-type", "-"	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1683G>T	19.37:g.52659253C>A	ENSP00000325038:p.Lys561Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K561N	ENST00000322146.8	37	c.1683	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665023	0.29604	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.27890	1.64	2.09	-0.321	0.12717	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56558	0.1993	M	0.92169	3.28	0.09310	N	1	D	0.67145	0.996	D	0.64144	0.922	T	0.47799	-0.9089	9	0.87932	D	0	.	7.5424	0.27746	0.0:0.6365:0.0:0.3635	.	561	Q6ZNA1	ZN836_HUMAN	N	561;135	ENSP00000325038:K561N	ENSP00000325038:K561N	K	-	3	2	ZNF836	57351065	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-1.058000	0.03482	-0.318000	0.08665	-0.350000	0.07774	AAG	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196267		0.388	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	-	0	68	0	C	NM_001102657		52659253	-1	tier1	-	no_errors	ENST00000322146	ensembl	human	known	74_37	missense	36.49	47	27	SNP	0.122	A	A	52659253	C	A	52659253	3	1	58	1	0	0	0	0	1	0	0	0	18235	680	24	3	1129	3	ZNF836	19	52659253	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	677404	52659253	6469730	2108	16491											
ZNF578	147660	genome.wustl.edu	37	chr19	53005160	53005160	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcatggctcttcctcAggtgaagtgatattcctctg	7	12	11	11	0	3	2	1	2	2	0	5	2	5	2	3	3	0	2	3	3	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:53005160A>G	ENST00000421239.2	+	4	306	c.62A>G	c.(61-63)cAg>cGg	p.Q21R		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCTCTTCCTCAGGTGAAGTGA	0.383																																																	0													121	121	121					19																	53005160		2203	4297	6500	SO:0001630	splice_region_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.63+1A>G	19.37:g.53005160A>G			B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q21R	ENST00000421239.2	37	c.62	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	11.84	1.759141	0.31137	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.01	-0.0704	0.13748	.	.	.	.	.	T	0.50803	0.1637	L	0.57130	1.785	0.09310	N	1	P	0.42039	0.769	P	0.61397	0.888	T	0.42749	-0.9433	7	.	.	.	.	2.8755	0.05629	0.6876:0.0:0.3124:0.0	.	21	G3V4F6	.	R	21	.	.	Q	+	2	0	ZNF578	57696972	0.189000	0.23263	0.021000	0.16686	0.408000	0.30992	0.465000	0.22004	-0.048000	0.13401	0.246000	0.17985	CAG	ZNF578	-	superfamily_Krueppel-associated_box	ENSG00000258405		0.383	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0	112	0	A	NM_152472	Missense_Mutation	53005160	1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	28.09	64	25	SNP	0.032	G	G	53005160	A	G	53005160	5	3	58	1	0	0	0	0	0	0	1	0	18058	202	7	4	64	4	ZNF578	19	53005160	Splice_Site	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	345907	53005160	6123823	2109	16492											
ZNF578	147660	genome.wustl.edu	37	chr19	53013904	53013904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatccacacagggatgttGcaaagacatgaaagttatca	15	9	10	7	0	1	3	1	2	0	1	2	4	2	4	1	1	1	3	1	1	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:53013904G>A	ENST00000421239.2	+	6	514	c.270G>A	c.(268-270)ttG>ttA	p.L90L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAGGGATGTTGCAAAGACATG	0.368																																																	0													127	131	130					19																	53013904		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.270G>A	19.37:g.53013904G>A			B4DR51|I3L1Y6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L90	ENST00000421239.2	37	c.270	CCDS54310.1	19																																																																																			ZNF578	-	pfscan_Krueppel-associated_box	ENSG00000258405		0.368	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0	179	0	G	NM_152472		53013904	1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	silent	36.31	100	57	SNP	0.000	A	A	53013904	G	A	53013904	2	1	58	1	0	0	0	0	0	0	0	1	18058	1310	46	3		3	ZNF578	19	53013904	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8744	53013904	6115079	2110	16493											
NLRP12	91662	genome.wustl.edu	37	chr19	54313244	54313244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggaagcggctggtgagtgCcaggaagctcctttcagaaa	11	7	14	9	1	1	2	1	1	0	1	2	4	2	4	2	4	3	2	2	4	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54313244C>T	ENST00000324134.6	-	3	1837	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	NLRP12_ENST00000351894.4_Missense_Mutation_p.A557T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A557T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A557T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A557T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A557T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A557T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A557T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	557					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGGTGAGTGCCAGGAAGCTC	0.587																																																	0													85	79	81					19																	54313244		2203	4300	6503	SO:0001583	missense	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"Nucleotide-binding domain and leucine rich repeat containing"	22938	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"	609648	"NACHT, leucine rich repeat and PYD containing 12"	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1669G>A	19.37:g.54313244C>T	ENSP00000319377:p.Ala557Thr		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A557T	ENST00000324134.6	37	c.1669	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	7.366	0.625930	0.14257	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.21	3.16	0.36331	.	0.209794	0.23748	N	0.044947	T	0.70456	0.3226	L	0.41492	1.28	0.80722	D	1	P;P;P;P	0.38535	0.635;0.635;0.635;0.489	B;B;B;B	0.32090	0.14;0.081;0.14;0.074	T	0.64757	-0.6332	10	0.28530	T	0.3	.	8.2536	0.31741	0.0:0.886:0.0:0.114	.	557;557;557;557	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	557	ENSP00000319377:A557T;ENSP00000438030:A557T;ENSP00000340473:A557T;ENSP00000346231:A557T;ENSP00000375655:A557T;ENSP00000375653:A557T;ENSP00000375652:A557T	ENSP00000319377:A557T	A	-	1	0	NLRP12	59005056	0.009000	0.17119	0.633000	0.29310	0.179000	0.23085	2.015000	0.40961	0.891000	0.36235	0.485000	0.47835	GCA	NLRP12	-	NULL	ENSG00000142405		0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0	25	0	C	NM_144687		54313244	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	43.33	17	13	SNP	0.996	T	T	54313244	C	T	54313244	3	4	58	1	0	0	0	0	1	0	0	0	10513	739	26	3	1644	3	NLRP12	19	54313244	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1299340	54313244	4815739	2111	16494											
OSCAR	126014	genome.wustl.edu	37	chr19	54600285	54600285	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaattctgccagctcggaGgacacatcccggaagagaag	14	5	12	10	2	1	2	0	0	1	2	3	6	2	5	2	3	2	1	2	3	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54600285G>T	ENST00000284648.6	-	4	434	c.237C>A	c.(235-237)tcC>tcA	p.S79S	OSCAR_ENST00000391761.1_Silent_p.S68S|OSCAR_ENST00000351806.4_Silent_p.S68S|OSCAR_ENST00000358375.4_Silent_p.S79S|OSCAR_ENST00000359649.4_Silent_p.S83S|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Silent_p.S83S			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	79	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CCAGCTCGGAGGACACATCCC	0.597																																																	0													58	60	59					19																	54600285		2203	4300	6503	SO:0001819	synonymous_variant	0			AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.237C>A	19.37:g.54600285G>T			B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	smart_Ig_sub	p.S83	ENST00000284648.6	37	c.249		19																																																																																			OSCAR	-	smart_Ig_sub	ENSG00000170909		0.597	OSCAR-001	NOVEL	basic	protein_coding	OSCAR	HGNC	protein_coding	OTTHUMT00000139493.4		0	48	0	G	NM_133169		54600285	-1			no_errors	ENST00000356532	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.000	T	T	54600285	G	T	54600285	2	4	58	1	0	0	0	0	0	0	0	1	11324	987	35	3		3	OSCAR	19	54600285	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	287041	54600285	4528698	2112	16495											
LILRB5	10990	genome.wustl.edu	37	chr19	54759311	54759311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggccagagccctggaCgaggtcatgttccccctcct	5	9	11	16	1	1	1	1	0	0	1	3	3	3	2	5	3	2	2	5	3	0	1	rs376519844		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54759311C>T	ENST00000316219.5	-	5	897	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	LILRB5_ENST00000345866.6_Missense_Mutation_p.V164I|LILRB5_ENST00000449561.2_Missense_Mutation_p.V264I|LILRB5_ENST00000450632.1_Missense_Mutation_p.V255I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	264	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCCTGGACGAGGTCATGT	0.652																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	50	49	49		790,490,790	0.2	0	19		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	264/592,164/492,264/591	54759311	2,13004	2203	4300	6503	SO:0001583	missense	0			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.790G>A	19.37:g.54759311C>T	ENSP00000320390:p.Val264Ile		Q8N760	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V255I	ENST00000316219.5	37	c.763	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	C	2.988	-0.208894	0.06140	2.27E-4	1.16E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	2.62	0.214	0.15249	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.098760	0.02459	N	0.086366	T	0.05640	0.0148	N	0.16130	0.375	0.09310	N	1	B;P;B;B;B	0.41597	0.197;0.756;0.136;0.078;0.054	B;B;B;B;B	0.34038	0.067;0.174;0.035;0.015;0.046	T	0.27400	-1.0075	10	0.21540	T	0.41	.	4.7798	0.13197	0.0:0.2451:0.5056:0.2493	.	255;155;164;264;264	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	I	264;255;264;164	ENSP00000320390:V264I;ENSP00000414225:V255I;ENSP00000406478:V264I;ENSP00000263430:V164I	ENSP00000320390:V264I	V	-	1	0	LILRB5	59451123	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.659000	0.05323	0.136000	0.18733	-0.428000	0.05917	GTC	LILRB5	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000105609		0.652	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	-	0	111	0	C			54759311	-1	tier1	-	no_errors	ENST00000450632	ensembl	human	known	74_37	missense	43.75	54	42	SNP	0.001	T	T	54759311	C	T	54759311	3	4	58	1	0	0	0	0	1	0	0	0	8823	536	19	1	1021	1	LILRB5	19	54759311	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	159026	54759311	4369672	2113	16496											
LILRA3	11026	genome.wustl.edu	37	chr19	54802012	54802012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagcacctgtaggtcccCgcgtgggccgaggtcacagg	6	6	15	14	4	1	0	1	0	0	0	2	1	2	0	5	4	1	3	5	4	2	2	rs149110195	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54802012C>T	ENST00000251390.3	-	6	1267	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	LILRA3_ENST00000391744.3_Silent_p.A328A|LILRA3_ENST00000391745.1_Silent_p.A409A	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	392	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTAGGTCCCCGCGTGGGCCG	0.612																																																	0								C	,	0,4386		0,0,2193	115	102	107		984,1176	0.7	0.6	19	dbSNP_134	107	17,8353		3,11,4171	no	coding-synonymous,coding-synonymous	LILRA3	NM_001172654.1,NM_006865.3	,	3,11,6364	TT,TC,CC		0.2031,0.0,0.1333	,	328/376,392/440	54802012	17,12739	2193	4185	6378	SO:0001819	synonymous_variant	0			U91926		19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1176G>A	19.37:g.54802012C>T			J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.A392	ENST00000251390.3	37	c.1176	CCDS12887.1	19																																																																																			LILRA3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000170866		0.612	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	-	0	190	0	C			54802012	-1	tier1	rs149110195	no_errors	ENST00000251390	ensembl	human	known	74_37	silent	39.55	107	70	SNP	0.347	T	T	54802012	C	T	54802012	2	4	58	1	0	0	0	0	0	0	0	1	8815	639	23	1		1	LILRA3	19	54802012	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	42701	54802012	4326971	2114	16497											
LILRA4	23547	genome.wustl.edu	37	chr19	54844919	54844919	+	Frame_Shift_Del	DEL	G	G	-																															ttgcctcctggctgcaccttGgggggcttctctggctgtgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54844919delG	ENST00000291759.4	-	8	1480	c.1424delC	c.(1423-1425)ccafs	p.P475fs	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	475					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCTGCACCTTGGGGGGCTTCT	0.547																																																	0													79	69	72					19																	54844919		2203	4300	6503	SO:0001589	frameshift_variant	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1424delC	19.37:g.54844919delG	ENSP00000291759:p.Pro475fs		Q32MC4	Frame_Shift_Del	DEL	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P475fs	ENST00000291759.4	37	c.1424	CCDS12890.1	19																																																																																			LILRA4	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239961		0.547	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2		0	108	0	G	NM_012276		54844919	-1	tier1		no_errors	ENST00000291759	ensembl	human	known	74_37	frame_shift_del	26.92	57	21	DEL	0.004	-	-	54844919	G	-	54844919	7	5	58	1	0	1	0	1	0	0	0	0	8816	1348	47	0	79	0	LILRA4	19	54844919	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	42907	54844919	4284064	2115	16498											
LILRA4	23547	genome.wustl.edu	37	chr19	54848276	54848276	+	Frame_Shift_Del	DEL	G	G	-																															acattgatctcagacgcaacGggggatgggctgccccctcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54848276delG	ENST00000291759.4	-	6	1147	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	364	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGACGCAACGGGGGATGGGC	0.597																																																	0													150	139	143					19																	54848276		2203	4300	6503	SO:0001589	frameshift_variant	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1091delC	19.37:g.54848276delG	ENSP00000291759:p.Pro364fs		Q32MC4	Frame_Shift_Del	DEL	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P364fs	ENST00000291759.4	37	c.1091	CCDS12890.1	19																																																																																			LILRA4	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000239961		0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2		0	200	0	G	NM_012276		54848276	-1	tier1		no_errors	ENST00000291759	ensembl	human	known	74_37	frame_shift_del	37.80	102	62	DEL	0.001	-	-	54848276	G	-	54848276	7	5	58	1	0	1	0	1	0	0	0	0	8816	1116	39	0	420	0	LILRA4	19	54848276	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	3357	54848276	4280707	2116	16499											
KIR3DL1	3811	genome.wustl.edu	37	chr19	55333053	55333053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctctctcagcccagcCgggccccaaggttcaggcag	7	7	10	17	1	3	0	2	0	2	0	5	0	3	0	5	3	2	2	5	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55333053C>T	ENST00000391728.4	+	5	722	c.689C>T	c.(688-690)cCg>cTg	p.P230L	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P230L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P230L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P230L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P230L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P135L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	230					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P230L(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCAGCCCAGCCGGGCCCCAAG	0.567																																																	2	Substitution - Missense(2)	breast(2)											56	55	55					19																	55333053		2181	4146	6327	SO:0001583	missense	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.689C>T	19.37:g.55333053C>T	ENSP00000375608:p.Pro230Leu		O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.P230L	ENST00000391728.4	37	c.689	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	5.916	0.353062	0.11182	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.01228	5.14;5.14;5.14;5.14;5.14;5.14	1.47	-1.08	0.09936	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.324640	0.05992	N	0.646272	T	0.02727	0.0082	M	0.84326	2.69	0.09310	N	1	B;B;B;B	0.28801	0.223;0.024;0.02;0.129	B;B;B;B	0.23275	0.045;0.009;0.038;0.025	T	0.40850	-0.9541	10	0.72032	D	0.01	.	4.3302	0.11060	0.0:0.467:0.0:0.533	.	230;135;230;230	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	L	230;230;230;208;230;230;135	ENSP00000384528:P230L;ENSP00000443350:P230L;ENSP00000442355:P230L;ENSP00000375608:P230L;ENSP00000326868:P230L;ENSP00000350901:P135L	ENSP00000326868:P230L	P	+	2	0	KIR3DL1	60024865	0.000000	0.05858	0.001000	0.08648	0.186000	0.23388	-1.232000	0.02936	-0.331000	0.08501	0.184000	0.17185	CCG	KIR3DL1	-	smart_Ig_sub	ENSG00000167633		0.567	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	-	0	131	0	C	NM_013289		55333053	1	tier1	-	no_errors	ENST00000402254	ensembl	human	known	74_37	missense	52.07	58	63	SNP	0.001	T	T	55333053	C	T	55333053	3	4	58	1	0	0	0	0	1	0	0	0	8347	652	23	1	707	1	KIR3DL1	19	55333053	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	484777	55333053	3795930	2117	16500											
KIR3DL1	3811	genome.wustl.edu	37	chr19	55340914	55340914	+	Frame_Shift_Del	DEL	A	A	-																															ttcatctctggtgctccaacAaaaaaagtaagtctcacggg																								rs558183513		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55340914delA	ENST00000391728.4	+	7	1132	c.1099delA	c.(1099-1101)aaafs	p.K368fs	KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.K351fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.K368fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.K351fs|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.K273fs	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	368					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGCTCCAACAAAAAAAGTAA	0.537																																																	0													153	119	131					19																	55340914		2170	4146	6316	SO:0001589	frameshift_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1099delA	19.37:g.55340914delA	ENSP00000375608:p.Lys368fs		O43473|Q14946|Q16541	Frame_Shift_Del	DEL	pfam_Immunoglobulin,smart_Ig_sub	p.N369fs	ENST00000391728.4	37	c.1099	CCDS42621.1	19																																																																																			KIR3DL1	-	NULL	ENSG00000167633		0.537	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1		0	238	0	A	NM_013289		55340914	1	tier1		no_errors	ENST00000391728	ensembl	human	known	74_37	frame_shift_del	33.16	129	64	DEL	0.004	-	-	55340914	A	-	55340914	7	5	58	1	0	1	0	1	0	0	0	0	8347	131	5	0	1125	0	KIR3DL1	19	55340914	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	7861	55340914	3788069	2118	16501											
NLRP7	199713	genome.wustl.edu	37	chr19	55450978	55450978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcagctgtgcgccctgCgggaaccggctgcagaggaa	7	4	15	15	4	0	1	0	0	0	1	0	3	0	3	4	3	5	4	4	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55450978C>T	ENST00000590030.1	-	3	1249	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	NLRP7_ENST00000328092.5_Silent_p.P403P|NLRP7_ENST00000446217.1_Silent_p.P431P|NLRP7_ENST00000340844.2_Silent_p.P403P|NLRP7_ENST00000588756.1_Silent_p.P403P|NLRP7_ENST00000592784.1_Silent_p.P403P|NLRP7_ENST00000448121.2_Silent_p.P403P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGCGCCCTGCGGGAACCGGC	0.697																																																	0													8	8	8					19																	55450978		1947	3881	5828	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1209G>A	19.37:g.55450978C>T			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P431	ENST00000590030.1	37	c.1293	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.697	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	-	0	22	0	C	NM_139176		55450978	-1	tier1	-	no_errors	ENST00000446217	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.000	T	T	55450978	C	T	55450978	2	4	58	1	0	0	0	0	0	0	0	1	10521	755	27	1		1	NLRP7	19	55450978	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	110064	55450978	3678005	2119	16502											
RDH13	112724	genome.wustl.edu	37	chr19	55570534	55570534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagattttacctctcctggCcagttccaaggcggtctgct	6	12	11	12	1	2	1	0	0	2	1	4	2	3	1	4	4	2	2	4	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55570534C>T	ENST00000415061.3	-	2	318	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	RDH13_ENST00000396247.3_5'UTR	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	59					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCTCTCCTGGCCAGTTCCAAG	0.582																																																	0													33	31	32					19																	55570534		1568	3580	5148	SO:0001583	missense	0				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.175G>A	19.37:g.55570534C>T	ENSP00000391121:p.Ala59Thr		Q6UX79|Q96G88	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A59T	ENST00000415061.3	37	c.175	CCDS54320.1	19	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757099	0.69648	.	.	ENSG00000160439	ENST00000415061;ENST00000291892	D;D	0.89552	-2.53;-2.53	5.09	5.09	0.68999	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95332	0.8485	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.96091	0.9061	10	0.87932	D	0	.	14.4282	0.67230	0.0:1.0:0.0:0.0	.	59	Q8NBN7	RDH13_HUMAN	T	59	ENSP00000391121:A59T;ENSP00000291892:A59T	ENSP00000291892:A59T	A	-	1	0	RDH13	60262346	1.000000	0.71417	0.999000	0.59377	0.077000	0.17291	5.781000	0.68964	2.565000	0.86533	0.650000	0.86243	GCC	RDH13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase	ENSG00000160439		0.582	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	-	0	44	0	C	NM_138412		55570534	-1	tier1	-	no_errors	ENST00000415061	ensembl	human	known	74_37	missense	52.08	23	25	SNP	1.000	T	T	55570534	C	T	55570534	3	4	58	1	0	0	0	0	1	0	0	0	13237	739	26	3	844	3	RDH13	19	55570534	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	119556	55570534	3558449	2120	16503											
EPS8L1	54869	genome.wustl.edu	37	chr19	55598783	55598783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtacagccaggtcaccGtgcagcgctcgctgctggag	6	8	15	12	3	1	0	1	0	0	0	2	1	1	1	2	2	5	5	2	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55598783G>A	ENST00000201647.6	+	19	2121	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	EPS8L1_ENST00000588359.1_Missense_Mutation_p.V375M|EPS8L1_ENST00000540810.1_Missense_Mutation_p.V625M|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.V562M	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	689					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAGGTCACCGTGCAGCGCTC	0.677																																					Ovarian(149;255 1863 3636 27051 29647)												0													59	61	60					19																	55598783		2203	4299	6502	SO:0001583	missense	0			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2065G>A	19.37:g.55598783G>A	ENSP00000201647:p.Val689Met		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain	p.V689M	ENST00000201647.6	37	c.2065	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238737	0.79800	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.25414	1.8;1.8;1.8	3.79	3.79	0.43588	.	0.073437	0.52532	D	0.000063	T	0.52757	0.1754	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.87578	0.998;0.907;0.988	T	0.60332	-0.7284	10	0.59425	D	0.04	-25.4363	13.9264	0.63966	0.0:0.0:1.0:0.0	.	468;562;689	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	M	689;625;562;375	ENSP00000201647:V689M;ENSP00000437541:V625M;ENSP00000245618:V562M	ENSP00000201647:V689M	V	+	1	0	EPS8L1	60290595	1.000000	0.71417	0.910000	0.35882	0.600000	0.36913	5.846000	0.69444	2.060000	0.61445	0.313000	0.20887	GTG	EPS8L1	-	superfamily_SAM/pointed	ENSG00000131037		0.677	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	-	0	32	0	G	NM_017729		55598783	1	tier1	-	no_errors	ENST00000201647	ensembl	human	known	74_37	missense	36.84	12	7	SNP	0.998	A	A	55598783	G	A	55598783	3	1	58	1	0	0	0	0	1	0	0	0	5211	1145	40	1	2187	1	EPS8L1	19	55598783	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	28249	55598783	3530200	2121	16504											
HSPBP1	23640	genome.wustl.edu	37	chr19	55785874	55785874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctgctcctggatggCtgccacgttctgactgcacg	6	9	11	15	2	1	1	0	1	1	0	2	2	2	2	3	2	4	5	3	2	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55785874C>T	ENST00000255631.5	-	5	842	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	HSPBP1_ENST00000433386.2_Missense_Mutation_p.A178T|HSPBP1_ENST00000587922.1_Missense_Mutation_p.A178T|HSPBP1_ENST00000376343.3_Missense_Mutation_p.A178T	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	181					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCTGGATGGCTGCCACGTTC	0.711																																																	0													17	15	16					19																	55785874		2191	4280	6471	SO:0001583	missense	0				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"hsp70 interacting protein", "Hsp70 binding protein 1"	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.532G>A	19.37:g.55785874C>T	ENSP00000255631:p.Ala178Thr		B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A178T	ENST00000255631.5	37	c.532	CCDS33111.1	19	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281945	0.40394	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.42131	0.98;0.98;0.98	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.340010	0.31989	N	0.006760	T	0.32941	0.0846	L	0.43152	1.355	0.29908	N	0.823792	P;P;P;D	0.53619	0.843;0.843;0.843;0.961	B;B;B;B	0.43360	0.154;0.154;0.154;0.417	T	0.28235	-1.0050	10	0.21540	T	0.41	-20.5675	7.7848	0.29085	0.1633:0.7554:0.0:0.0813	.	178;181;181;224	C9JNI7;Q9NZL4-2;Q9NZL4;B4DG11	.;.;HPBP1_HUMAN;.	T	178	ENSP00000398244:A178T;ENSP00000255631:A178T;ENSP00000365521:A178T	ENSP00000255631:A178T	A	-	1	0	HSPBP1	60477686	0.940000	0.31905	0.977000	0.42913	0.824000	0.46624	1.818000	0.39012	2.808000	0.96608	0.650000	0.86243	GCC	HSPBP1	-	superfamily_ARM-type_fold	ENSG00000133265		0.711	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	HGNC	protein_coding	OTTHUMT00000452670.1	-	0	20	0	C	NM_012267		55785874	-1	tier1	-	no_errors	ENST00000255631	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.807	T	T	55785874	C	T	55785874	3	4	58	1	0	0	0	0	1	0	0	0	7453	797	28	3	567	3	HSPBP1	19	55785874	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	187091	55785874	3343109	2122	16505											
RPL28	6158	genome.wustl.edu	37	chr19	55899415	55899415	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgccccgacctgcgcaTggtgagctggggtttgggga	5	8	17	11	3	0	1	0	1	0	0	0	3	0	2	4	5	3	4	4	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55899415T>C	ENST00000344063.2	+	4	952	c.323T>C	c.(322-324)aTg>aCg	p.M108T	RPL28_ENST00000560583.1_Missense_Mutation_p.M108T|RPL28_ENST00000458349.2_Splice_Site_p.M108T|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000559463.1_Splice_Site_p.M108T|RPL28_ENST00000560055.1_Splice_Site_p.M108T|RPL28_ENST00000558815.1_Splice_Site_p.M108T			P46779	RL28_HUMAN	ribosomal protein L28	108					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GACCTGCGCATGGTGAGCTGG	0.592																																																	0													83	73	76					19																	55899415		2203	4300	6503	SO:0001630	splice_region_variant	0			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"L ribosomal proteins"	10330	protein-coding gene	gene with protein product	"60S ribosomal protein L28"	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.324+1T>C	19.37:g.55899415T>C			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	NULL	p.M108T	ENST00000344063.2	37	c.323	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435446	0.25813	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.40225	1.04;1.04	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.76574	2.34	0.49483	D	0.999795	D;D;D	0.67145	0.992;0.996;0.996	D;D;P	0.65443	0.935;0.928;0.903	T	0.62464	-0.6849	10	0.56958	D	0.05	.	10.5017	0.44810	0.0:0.0:0.0:1.0	.	108;108;108	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	T	108	ENSP00000342787:M108T;ENSP00000401450:M108T	ENSP00000342787:M108T	M	+	2	0	RPL28	60591227	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	7.261000	0.78400	1.520000	0.48965	0.379000	0.24179	ATG	RPL28	-	NULL	ENSG00000108107		0.592	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	-	0	48	0	T	NM_000991	Missense_Mutation	55899415	1	tier1	-	no_errors	ENST00000458349	ensembl	human	known	74_37	missense	53.85	18	21	SNP	1.000	C	C	55899415	T	C	55899415	5	2	58	1	0	0	0	0	0	0	1	0	13622	1478	51	4	401	4	RPL28	19	55899415	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	113541	55899415	3229568	2123	16506											
EPN1	29924	genome.wustl.edu	37	chr19	56203122	56203122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctctcccccacagtcGtccctcatggaccttgctga	5	12	6	18	1	3	1	1	1	2	0	7	2	4	2	4	1	1	1	4	1	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56203122G>A	ENST00000270460.6	+	7	1076	c.765G>A	c.(763-765)tcG>tcA	p.S255S	EPN1_ENST00000085079.7_Silent_p.S230S|EPN1_ENST00000411543.2_Silent_p.S341S|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	255					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCCACAGTCGTCCCTCATGG	0.692																																																	0													58	66	63					19																	56203122		1998	4146	6144	SO:0001819	synonymous_variant	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.765G>A	19.37:g.56203122G>A			Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.S341	ENST00000270460.6	37	c.1023	CCDS46199.1	19																																																																																			EPN1	-	NULL	ENSG00000063245		0.692	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	-	0	68	0	G	NM_013333		56203122	1	tier1	-	no_errors	ENST00000411543	ensembl	human	known	74_37	silent	26.23	43	16	SNP	0.027	A	A	56203122	G	A	56203122	2	1	58	1	0	0	0	0	0	0	0	1	5201	1132	40	1		1	EPN1	19	56203122	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	303707	56203122	2925861	2124	16507											
EPN1	29924	genome.wustl.edu	37	chr19	56203184	56203184	+	Frame_Shift_Del	DEL	G	G	-																															tgccccgaccacagacccctGggggggcccagcacccatgg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56203184delG	ENST00000270460.6	+	7	1138	c.827delG	c.(826-828)tggfs	p.W276fs	EPN1_ENST00000085079.7_Frame_Shift_Del_p.W251fs|EPN1_ENST00000411543.2_Frame_Shift_Del_p.W362fs|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	276	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G364fs*164(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACAGACCCCTGGGGGGGCCCA	0.692																																																	1	Deletion - Frameshift(1)	large_intestine(1)											42	49	47					19																	56203184		1870	4081	5951	SO:0001589	frameshift_variant	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.827delG	19.37:g.56203184delG	ENSP00000270460:p.Trp276fs		Q86ST3|Q9HA18	Frame_Shift_Del	DEL	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.G364fs	ENST00000270460.6	37	c.1085	CCDS46199.1	19																																																																																			EPN1	-	NULL	ENSG00000063245		0.692	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1		0	36	0	G	NM_013333		56203184	1	tier1		no_errors	ENST00000411543	ensembl	human	known	74_37	frame_shift_del	18.52	22	5	DEL	1.000	-	-	56203184	G	-	56203184	7	5	58	1	0	1	0	1	0	0	0	0	5201	1357	47	0	1190	0	EPN1	19	56203184	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	62	56203184	2925799	2125	16508											
NLRP9	338321	genome.wustl.edu	37	chr19	56244870	56244870	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtttccttctcccatatGagttgaaatgtttccttcat	8	17	6	10	0	2	2	1	2	1	0	5	2	4	2	3	1	0	3	3	1	2	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56244870G>T	ENST00000332836.2	-	2	354	c.327C>A	c.(325-327)ctC>ctA	p.L109L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	109						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTCCCATATGAGTTGAAATG	0.358																																																	0													120	120	120					19																	56244870		2203	4300	6503	SO:0001819	synonymous_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.327C>A	19.37:g.56244870G>T			B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L109	ENST00000332836.2	37	c.327	CCDS12934.1	19																																																																																			NLRP9	-	NULL	ENSG00000185792		0.358	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	-	0	43	0	G	NM_176820		56244870	-1	tier1	-	no_errors	ENST00000332836	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.000	T	T	56244870	G	T	56244870	2	4	58	1	0	0	0	0	0	0	0	1	10523	1277	45	3		3	NLRP9	19	56244870	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	41686	56244870	2884113	2126	16509											
NLRP13	126204	genome.wustl.edu	37	chr19	56413508	56413508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtgtgtcaggctcctGttctgcaggagagcatctga	7	12	13	9	0	4	2	2	1	2	1	5	3	5	2	1	3	2	4	1	3	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56413508G>T	ENST00000342929.3	-	9	2681	c.2682C>A	c.(2680-2682)aaC>aaA	p.N894K	NLRP13_ENST00000588751.1_Missense_Mutation_p.N894K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	894							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAGGCTCCTGTTCTGCAGGA	0.567																																																	0													117	85	96					19																	56413508		2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2682C>A	19.37:g.56413508G>T	ENSP00000343891:p.Asn894Lys		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N894K	ENST00000342929.3	37	c.2682	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559480	0.45590	.	.	ENSG00000173572	ENST00000342929	T	0.66460	-0.21	2.52	2.52	0.30459	.	.	.	.	.	T	0.75428	0.3848	M	0.76938	2.355	0.09310	N	1	D	0.54397	0.966	P	0.55923	0.787	T	0.64206	-0.6462	9	0.72032	D	0.01	.	9.0845	0.36572	0.0:0.0:1.0:0.0	.	894	Q86W25	NAL13_HUMAN	K	894	ENSP00000343891:N894K	ENSP00000343891:N894K	N	-	3	2	NLRP13	61105320	0.001000	0.12720	0.015000	0.15790	0.010000	0.07245	0.707000	0.25704	1.384000	0.46424	0.467000	0.42956	AAC	NLRP13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000173572		0.567	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1		0	39	0	G	NM_176810		56413508	-1			no_errors	ENST00000342929	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.011	T	T	56413508	G	T	56413508	3	4	58	1	0	0	0	0	1	0	0	0	10514	1368	48	3	459	3	NLRP13	19	56413508	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	168638	56413508	2715475	2127	16510											
ZNF471	57573	genome.wustl.edu	37	chr19	57035841	57035841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctttttgagaagcagatGggaagtcatgagatgtttag	12	12	13	4	0	1	3	1	2	0	3	1	7	1	4	1	1	1	2	1	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57035841G>A	ENST00000308031.5	+	5	538	c.405G>A	c.(403-405)atG>atA	p.M135I	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGAAGCAGATGGGAAGTCATG	0.353																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													73	71	72					19																	57035841		2203	4300	6503	SO:0001583	missense	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.405G>A	19.37:g.57035841G>A	ENSP00000309161:p.Met135Ile		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M135I	ENST00000308031.5	37	c.405	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	G	2.123	-0.401077	0.04865	.	.	ENSG00000196263	ENST00000308031	T	0.04809	3.55	3.73	1.48	0.22813	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47142	-0.9140	9	0.26408	T	0.33	.	3.5974	0.08012	0.0969:0.1651:0.5683:0.1697	.	135	Q9BX82	ZN471_HUMAN	I	135	ENSP00000309161:M135I	ENSP00000309161:M135I	M	+	3	0	ZNF471	61727653	0.012000	0.17670	0.001000	0.08648	0.674000	0.39518	0.844000	0.27654	0.346000	0.23899	0.563000	0.77884	ATG	ZNF471	-	NULL	ENSG00000196263		0.353	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	-	0	36	0	G	NM_020813		57035841	1	tier1	-	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.001	A	A	57035841	G	A	57035841	3	1	58	1	0	0	0	0	1	0	0	0	17978	1348	47	3	419	3	ZNF471	19	57035841	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	622333	57035841	2093142	2128	16511											
PEG3	5178	genome.wustl.edu	37	chr19	57325797	57325797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctatgaataaaggacttaCcacaatccttgcattcatag	14	12	6	9	0	1	1	1	1	0	0	2	2	2	2	2	1	3	2	2	1	7	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57325797C>A	ENST00000326441.9	-	10	4376	c.4013G>T	c.(4012-4014)gGt>gTt	p.G1338V	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1338V|PEG3_ENST00000593695.1_Missense_Mutation_p.G1212V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1214V|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1338					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGACTTACCACAATCCTT	0.458																																																	0													82	80	81					19																	57325797		2203	4300	6503	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4013G>T	19.37:g.57325797C>A	ENSP00000326581:p.Gly1338Val		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G1338V	ENST00000326441.9	37	c.4013	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820898	0.50633	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.59906	0.23;0.23	4.48	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.143817	0.32608	N	0.005861	T	0.79317	0.4425	M	0.89414	3.03	.	.	.	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.84635	0.0692	9	0.87932	D	0	-42.4927	15.4772	0.75493	0.0:1.0:0.0:0.0	.	1214;1338;1273	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	1338	ENSP00000326581:G1338V;ENSP00000403051:G1338V	ENSP00000326581:G1338V	G	-	2	0	ZIM2	62017609	0.427000	0.25514	0.118000	0.21660	0.716000	0.41182	1.887000	0.39698	2.779000	0.95612	0.655000	0.94253	GGT	PEG3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	27	0	C			57325797	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.740	A	A	57325797	C	A	57325797	3	1	58	1	0	0	0	0	1	0	0	0	11759	507	18	3	757	3	PEG3	19	57325797	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	289956	57325797	1803186	2129	16512											
USP29	57663	genome.wustl.edu	37	chr19	57640238	57640239	+	Frame_Shift_Ins	INS	-	-	A																															gtgtggtccttagacattgtINSaaaaaaagacaaagtcacct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57640238_57640239insA	ENST00000254181.4	+	4	649_650	c.195_196insA	c.(196-198)aaafs	p.K66fs	USP29_ENST00000598197.1_Frame_Shift_Ins_p.K66fs	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	66					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.R68fs*7(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGACATTGTAAAAAAAGACA	0.327																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.202dupA	19.37:g.57640245_57640245dupA	ENSP00000254181:p.Lys66fs			Frame_Shift_Ins	INS	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R67fs	ENST00000254181.4	37	c.195_196	CCDS33124.1	19																																																																																			USP29	-	NULL	ENSG00000131864		0.327	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1		0	27	0	-			57640239	1	tier1		no_errors	ENST00000254181	ensembl	human	known	74_37	frame_shift_ins	40.48	25	17	INS	0.000:0.000	A	A	57640239	-	A	57640238	7	5	58	1	0	1	1	0	0	0	0	0	17108	1644	57	0	197	0	USP29	19	57640238	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	314441	57640238	1488745	2130	16513											
ZNF552	79818	genome.wustl.edu	37	chr19	58320156	58320156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacacatgcaacttacacCtcttcgcaaacaacgcctcc	12	8	4	17	2	1	1	0	1	1	0	3	1	2	1	3	0	5	2	3	0	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58320156C>A	ENST00000391701.1	-	3	645	c.476G>T	c.(475-477)aGg>aTg	p.R159M	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CAACTTACACCTCTTCGCAAA	0.468																																																	0													166	159	161					19																	58320156		2203	4300	6503	SO:0001583	missense	0			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"Zinc fingers, C2H2-type", "-"	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.476G>T	19.37:g.58320156C>A	ENSP00000375582:p.Arg159Met		B3KUE9|Q6P5A6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R159M	ENST00000391701.1	37	c.476	CCDS12963.1	19	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024728	0.35701	.	.	ENSG00000178935	ENST00000391701	T	0.05447	3.44	1.96	0.862	0.19056	.	.	.	.	.	T	0.12987	0.0315	L	0.36672	1.1	0.09310	N	1	D;D	0.76494	0.999;0.957	D;P	0.77557	0.99;0.719	T	0.16958	-1.0385	9	0.72032	D	0.01	.	6.2205	0.20679	0.0:0.8239:0.0:0.1761	.	155;159	B7Z1H1;Q9H707	.;ZN552_HUMAN	M	159	ENSP00000375582:R159M	ENSP00000375582:R159M	R	-	2	0	ZNF552	63011968	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	-0.104000	0.10923	0.145000	0.18977	0.205000	0.17691	AGG	ZNF552	-	NULL	ENSG00000178935		0.468	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF552	HGNC	protein_coding	OTTHUMT00000466829.1	-	0	146	0	C	NM_024762		58320156	-1	tier1	-	no_errors	ENST00000391701	ensembl	human	known	74_37	missense	39.23	79	51	SNP	0.017	A	A	58320156	C	A	58320156	3	1	58	1	0	0	0	0	1	0	0	0	18032	681	24	3	751	3	ZNF552	19	58320156	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	679918	58320156	808827	2131	16514											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58549418	58549418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgaggcccgaggcgCgctccaaggagcagatgctg	8	5	17	11	3	0	2	0	1	0	1	1	4	1	3	2	4	2	4	2	4	1	0	rs373056173		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58549418C>T	ENST00000282326.1	+	3	461	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R72C|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R72C	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	72	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCCGAGGCGCGCTCCAAGGA	0.701																																																	0								C	CYS/ARG	0,4366		0,0,2183	15	15	15		214	-3.9	0	19		15	1,8511		0,1,4255	no	missense	ZSCAN1	NM_182572.3	180	0,1,6438	TT,TC,CC		0.0117,0.0,0.0078	benign	72/409	58549418	1,12877	2183	4256	6439	SO:0001583	missense	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.214C>T	19.37:g.58549418C>T	ENSP00000282326:p.Arg72Cys		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R72C	ENST00000282326.1	37	c.214	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663617	0.29515	0.0	1.17E-4	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04654	3.58;3.58	2.09	-3.88	0.04205	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.04003	0.0112	L	0.41961	1.31	0.09310	N	1	B;B	0.25441	0.126;0.012	B;B	0.21708	0.036;0.004	T	0.39418	-0.9615	9	0.72032	D	0.01	.	3.3478	0.07141	0.0:0.3546:0.2136:0.4318	.	72;72	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	C	72	ENSP00000375581:R72C;ENSP00000282326:R72C	ENSP00000282326:R72C	R	+	1	0	ZSCAN1	63241230	0.000000	0.05858	0.005000	0.12908	0.561000	0.35649	-0.092000	0.11129	-1.058000	0.03197	-0.693000	0.03709	CGC	ZSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000152467		0.701	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0	44	0	C	NM_182572		58549418	1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	missense	56.82	19	25	SNP	0.001	T	T	58549418	C	T	58549418	3	4	58	1	0	0	0	0	1	0	0	0	18274	768	27	1	216	1	ZSCAN1	19	58549418	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	229262	58549418	579565	2132	16515											
UBE2M	9040	genome.wustl.edu	37	chr19	59067561	59067561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgcaggacctctgcGgcctccttgttcagtgggtc	3	14	12	12	1	3	0	1	0	2	0	5	1	4	1	3	3	2	3	3	3	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:59067561G>A	ENST00000253023.3	-	6	1025	c.447C>T	c.(445-447)gcC>gcT	p.A149A	CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	149					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGACCTCTGCGGCCTCCTTGT	0.632																																																	0													63	65	64					19																	59067561		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.447C>T	19.37:g.59067561G>A			O76069|Q8VC50	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A149	ENST00000253023.3	37	c.447	CCDS12987.1	19																																																																																			UBE2M	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000130725		0.632	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2M	HGNC	protein_coding	OTTHUMT00000467097.1	-	0	89	0	G	NM_003969		59067561	-1	tier1	-	no_errors	ENST00000253023	ensembl	human	known	74_37	silent	38.24	42	26	SNP	0.819	A	A	59067561	G	A	59067561	2	1	58	1	0	0	0	0	0	0	0	1	16914	1103	39	1		1	UBE2M	19	59067561	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	518143	59067561	61422	2133	16516											
RSPO4	343637	genome.wustl.edu	37	chr20	941100	941100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcccttcttctggccgGggctcctctctgcaatgaga	4	12	10	15	1	3	1	0	1	3	1	6	2	5	1	4	3	2	2	4	3	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:941100G>T	ENST00000217260.4	-	5	701	c.605C>A	c.(604-606)cCc>cAc	p.P202H	RSPO4_ENST00000400634.2_Missense_Mutation_p.P140H	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	202					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTCTGGCCGGGGCTCCTCTC	0.672																																																	0													10	12	11					20																	941100		1806	3872	5678	SO:0001583	missense	0			AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"Endogenous ligands"	16175	protein-coding gene	gene with protein product		610573	"chromosome 20 open reading frame 182", "R-spondin family, member 4"	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.605C>A	20.37:g.941100G>T	ENSP00000217260:p.Pro202His		A2A2I6|Q9UGB2	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.P202H	ENST00000217260.4	37	c.605	CCDS42846.1	20	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353245	0.24512	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	T;D	0.88277	-0.99;-2.36	4.22	-0.208	0.13185	.	1.818140	0.02705	N	0.112175	T	0.81498	0.4835	L	0.32530	0.975	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.63283	-0.6672	10	0.39692	T	0.17	-3.0558	1.8346	0.03137	0.108:0.1801:0.3433:0.3687	.	140;202	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	H	202;140	ENSP00000217260:P202H;ENSP00000383475:P140H	ENSP00000217260:P202H	P	-	2	0	RSPO4	889100	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.068000	0.14531	0.105000	0.17753	0.486000	0.48141	CCC	RSPO4	-	NULL	ENSG00000101282		0.672	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO4	HGNC	protein_coding	OTTHUMT00000077492.3	-	0	102	0	G	XM_297816		941100	-1	tier1	-	no_errors	ENST00000217260	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.000	T	T	941100	G	T	941100	3	4	58	1	0	0	0	0	1	0	0	0	13757	1232	43	3	103	3	RSPO4	20	941100	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		941100	62084420	2134	16517											
IDH3B	3420	genome.wustl.edu	37	chr20	2639423	2639423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttagtctgcaggtgacCgatgacagacttgatgaagt	10	11	11	9	1	1	5	0	4	1	1	1	6	1	5	2	1	1	1	2	1	2	3	rs376112899	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:2639423C>T	ENST00000380843.4	-	12	1162	c.1132G>A	c.(1132-1134)Ggt>Agt	p.G378S	SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000380851.5_Intron|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	378					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TGCAGGTGACCGATGACAGAC	0.557													C|||	3	0.000599042	0	0	5008	,	,		21634	0		0	False		,,,				2504	0.0031																0								C	SER/GLY,,SER/GLY	0,4406		0,0,2203	176	153	161		1132,,676	2.3	1	20		161	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	56,,56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,,benign	378/386,,226/234	2639423	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1132G>A	20.37:g.2639423C>T	ENSP00000370223:p.Gly378Ser		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.G378S	ENST00000380843.4	37	c.1132	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937100	0.18206	0.0	2.33E-4	ENSG00000101365	ENST00000380843;ENST00000435594	T	0.53423	0.62	5.69	2.27	0.28462	Isopropylmalate dehydrogenase-like domain (1);	0.411123	0.26279	N	0.025284	T	0.18635	0.0447	N	0.02275	-0.615	0.26637	N	0.972364	B;B	0.15141	0.012;0.001	B;B	0.08055	0.003;0.0	T	0.21280	-1.0250	10	0.11485	T	0.65	-12.0319	9.9082	0.41388	0.0:0.7341:0.0:0.2659	.	226;378	O43837-3;O43837	.;IDH3B_HUMAN	S	378;226	ENSP00000370223:G378S	ENSP00000370223:G378S	G	-	1	0	IDH3B	2587423	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	0.932000	0.28884	0.759000	0.33084	0.585000	0.79938	GGT	IDH3B	-	tigrfam_Isocitrate_DH_NAD	ENSG00000101365		0.557	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	-	0	63	0	C			2639423	-1	tier1	-	no_errors	ENST00000380843	ensembl	human	known	74_37	missense	32.39	48	23	SNP	0.994	T	T	2639423	C	T	2639423	3	4	58	1	0	0	0	0	1	0	0	0	7524	652	23	1	114	1	IDH3B	20	2639423	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1698323	2639423	60386097	2135	16518											
SIGLEC1	6614	genome.wustl.edu	37	chr20	3674126	3674126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgataggtctggagaggCggggtgcccgaccagggggg	7	5	22	7	2	1	2	0	1	1	1	1	4	1	2	2	9	1	0	2	9	1	1	rs376260161		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:3674126C>T	ENST00000344754.4	-	13	3475	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1159H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1159	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTGGAGAGGCGGGGTGCCCG	0.652																																																	0								C	HIS/ARG	0,4406		0,0,2203	28	33	31		3476	-4.7	0	20		31	1,8595		0,1,4297	no	missense	SIGLEC1	NM_023068.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	1159/1710	3674126	1,13001	2203	4298	6501	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3476G>A	20.37:g.3674126C>T	ENSP00000341141:p.Arg1159His		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1159H	ENST00000344754.4	37	c.3476	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	7.095	0.572971	0.13623	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12361	2.69;2.69	5.52	-4.66	0.03329	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.112820	0.06893	N	0.804582	T	0.07052	0.0179	N	0.20685	0.6	0.09310	N	1	B;B	0.27882	0.192;0.036	B;B	0.21360	0.034;0.021	T	0.39461	-0.9613	10	0.24483	T	0.36	.	7.4579	0.27276	0.0:0.3132:0.1222:0.5646	.	1159;1159	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	1159	ENSP00000341141:R1159H;ENSP00000202578:R1159H	ENSP00000202578:R1159H	R	-	2	0	SIGLEC1	3622126	0.000000	0.05858	0.026000	0.17262	0.228000	0.25075	-0.615000	0.05597	-0.799000	0.04439	-0.140000	0.14226	CGC	SIGLEC1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000088827		0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0	70	0	C	NM_023068		3674126	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	31.34	46	21	SNP	0.001	T	T	3674126	C	T	3674126	3	4	58	1	0	0	0	0	1	0	0	0	14350	768	27	1	1689	1	SIGLEC1	20	3674126	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1034703	3674126	59351394	2136	16519											
RASSF2	9770	genome.wustl.edu	37	chr20	4771179	4771179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcgtcctcacattgccaCggcgacgcaccccaacatca	10	6	8	17	4	2	0	2	0	0	0	3	1	3	0	4	2	2	1	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4771179C>T	ENST00000379400.3	-	7	650	c.455G>A	c.(454-456)cGt>cAt	p.R152H	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R152H	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	152					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R152H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CACATTGCCACGGCGACGCAC	0.597																																					Melanoma(158;1891 3343 50738)												1	Substitution - Missense(1)	endometrium(1)											110	82	92					20																	4771179		2203	4300	6503	SO:0001583	missense	0			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"centromere protein 34"	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.455G>A	20.37:g.4771179C>T	ENSP00000368710:p.Arg152His		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom	p.R152H	ENST00000379400.3	37	c.455	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.508628	0.96386	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.12039	2.72;2.72	5.2	5.2	0.72013	.	0.053822	0.85682	D	0.000000	T	0.41949	0.1181	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.42224	-0.9464	10	0.72032	D	0.01	.	17.4783	0.87667	0.0:1.0:0.0:0.0	.	152	P50749	RASF2_HUMAN	H	152	ENSP00000368710:R152H;ENSP00000368684:R152H	ENSP00000368684:R152H	R	-	2	0	RASSF2	4719179	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.402000	0.79972	2.706000	0.92434	0.563000	0.77884	CGT	RASSF2	-	NULL	ENSG00000101265		0.597	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	-	0	17	0	C	NM_014737		4771179	-1	tier1	-	no_errors	ENST00000379376	ensembl	human	known	74_37	missense	56.25	7	9	SNP	1.000	T	T	4771179	C	T	4771179	3	4	58	1	0	0	0	0	1	0	0	0	13131	536	19	1	549	1	RASSF2	20	4771179	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1097053	4771179	58254341	2137	16520											
SLC23A2	9962	genome.wustl.edu	37	chr20	4850601	4850601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaggacagccgtgcacAggcgtagtagtcaccaatag	12	5	13	11	2	1	0	1	0	0	0	1	1	1	1	2	3	2	4	2	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4850601A>G	ENST00000379333.1	-	12	1593	c.1201T>C	c.(1201-1203)Tgt>Cgt	p.C401R	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.C287R|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Missense_Mutation_p.C401R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	401					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCCGTGCACAGGCGTAGTAG	0.582																																																	0													91	88	89					20																	4850601		2203	4300	6503	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1201T>C	20.37:g.4850601A>G	ENSP00000368637:p.Cys401Arg		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.C401R	ENST00000379333.1	37	c.1201	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.62|17.62	3.434670|3.434670	0.62955|0.62955	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750|ENST00000423430	T;T;T|.	0.18810|.	2.19;2.19;2.19|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84079|0.84079	0.5393|0.5393	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.996;0.993|.	D;D;D|.	0.83275|.	0.996;0.973;0.973|.	D|D	0.87623|0.87623	0.2511|0.2511	10|5	0.87932|.	D|.	0|.	-17.8709|-17.8709	14.7063|14.7063	0.69194|0.69194	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	287;401;401|.	B4DJZ1;A0MSJ5;Q9UGH3|.	.;.;S23A2_HUMAN|.	R|P	401;401;287|157	ENSP00000368637:C401R;ENSP00000344322:C401R;ENSP00000406601:C287R|.	ENSP00000344322:C401R|.	C|L	-|-	1|2	0|0	SLC23A2|SLC23A2	4798601|4798601	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.201000|0.201000	0.24016|0.24016	9.313000|9.313000	0.96297|0.96297	2.212000|2.212000	0.71576|0.71576	0.460000|0.460000	0.39030|0.39030	TGT|CTG	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0	35	0	A			4850601	-1	tier1	-	no_errors	ENST00000338244	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	G	G	4850601	A	G	4850601	3	3	58	1	0	0	0	0	1	0	0	0	14508	188	7	4	775	4	SLC23A2	20	4850601	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	79422	4850601	58174919	2138	16521											
SLC23A2	9962	genome.wustl.edu	37	chr20	4864391	4864391	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggtcaagggaccgatgtActtcagtagagccccaggca	12	7	12	10	1	2	1	2	0	0	1	2	3	2	2	3	3	2	3	3	3	4	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4864391A>G	ENST00000379333.1	-	9	1113	c.721T>C	c.(721-723)Tac>Cac	p.Y241H	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000338244.1_Missense_Mutation_p.Y241H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	241					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGACCGATGTACTTCAGTAGA	0.582																																																	0													96	87	90					20																	4864391		2203	4300	6503	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.721T>C	20.37:g.4864391A>G	ENSP00000368637:p.Tyr241His		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.Y241H	ENST00000379333.1	37	c.721	CCDS13085.1	20	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183250	0.57800	.	.	ENSG00000089057	ENST00000379333;ENST00000338244	T;T	0.17691	2.26;2.26	5.43	5.43	0.79202	.	0.110472	0.64402	D	0.000005	T	0.33381	0.0861	L	0.48642	1.525	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.64595	0.927;0.927	T	0.02437	-1.1159	10	0.66056	D	0.02	-16.4598	14.4482	0.67367	1.0:0.0:0.0:0.0	.	241;241	A0MSJ5;Q9UGH3	.;S23A2_HUMAN	H	241	ENSP00000368637:Y241H;ENSP00000344322:Y241H	ENSP00000344322:Y241H	Y	-	1	0	SLC23A2	4812391	1.000000	0.71417	0.974000	0.42286	0.438000	0.31896	9.113000	0.94321	2.279000	0.76181	0.533000	0.62120	TAC	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0	30	0	A			4864391	-1	tier1	-	no_errors	ENST00000338244	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	G	G	4864391	A	G	4864391	3	3	58	1	0	0	0	0	1	0	0	0	14508	391	14	4	1267	4	SLC23A2	20	4864391	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	13790	4864391	58161129	2139	16522											
SLC23A2	9962	genome.wustl.edu	37	chr20	4893541	4893541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccttttctgcaatgccGttttccgtagtgtagatcgc	6	15	10	10	3	1	1	0	0	1	1	3	1	2	1	3	1	3	5	3	1	4	7	rs201503850	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4893541G>A	ENST00000379333.1	-	4	584	c.192C>T	c.(190-192)aaC>aaT	p.N64N	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.N64N|SLC23A2_ENST00000338244.1_Silent_p.N64N	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	64					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGCAATGCCGTTTTCCGTAG	0.587													G|||	2	0.000399361	0	0	5008	,	,		12388	0		0	False		,,,				2504	0.002																0													248	200	216					20																	4893541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.192C>T	20.37:g.4893541G>A			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	pfam_Xant/urac/vitC	p.N64	ENST00000379333.1	37	c.192	CCDS13085.1	20																																																																																			SLC23A2	-	NULL	ENSG00000089057		0.587	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0	25	0	G			4893541	-1	tier1	rs201503850	no_errors	ENST00000338244	ensembl	human	known	74_37	silent	32.35	23	11	SNP	0.610	A	A	4893541	G	A	4893541	2	1	58	1	0	0	0	0	0	0	0	1	14508	1136	40	1		1	SLC23A2	20	4893541	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	29150	4893541	58131979	2140	16523											
BMP2	650	genome.wustl.edu	37	chr20	6751098	6751098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagccgagccaacactGtgcgcagcttccaccatgaa	11	5	9	16	2	0	1	0	1	0	0	1	2	1	1	5	0	6	2	5	0	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:6751098G>A	ENST00000378827.4	+	2	1544	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	109					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						AGCCAACACTGTGCGCAGCTT	0.677																																																	0													18	20	19					20																	6751098		2165	4243	6408	SO:0001583	missense	0				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"Bone morphogenetic proteins", "Endogenous ligands"	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.325G>A	20.37:g.6751098G>A	ENSP00000368104:p.Val109Met			Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.V109M	ENST00000378827.4	37	c.325	CCDS13099.1	20	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394973	0.62066	.	.	ENSG00000125845	ENST00000378827	T	0.76578	-1.03	5.57	5.57	0.84162	Transforming growth factor-beta, N-terminal (1);	0.106696	0.64402	D	0.000005	D	0.88815	0.6539	M	0.90483	3.12	0.53688	D	0.99997	D	0.53462	0.96	P	0.55455	0.776	D	0.90824	0.4711	10	0.87932	D	0	.	19.5645	0.95388	0.0:0.0:1.0:0.0	.	109	P12643	BMP2_HUMAN	M	109	ENSP00000368104:V109M	ENSP00000368104:V109M	V	+	1	0	BMP2	6699098	1.000000	0.71417	0.996000	0.52242	0.116000	0.19942	6.203000	0.72137	2.599000	0.87857	0.650000	0.86243	GTG	BMP2	-	pfam_TGF-b_N	ENSG00000125845		0.677	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	HGNC	protein_coding	OTTHUMT00000077918.3	-	0	50	0	G			6751098	1	tier1	-	no_errors	ENST00000378827	ensembl	human	known	74_37	missense	36.36	35	20	SNP	1.000	A	A	6751098	G	A	6751098	3	1	58	1	0	0	0	0	1	0	0	0	1461	1377	48	3	327	3	BMP2	20	6751098	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1857557	6751098	56274422	2141	16524											
ISM1	140862	genome.wustl.edu	37	chr20	13269234	13269234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctggtctgtctgcagcGtcacctgcgggaacggcaac	6	9	13	13	3	4	0	1	0	3	0	5	1	4	1	1	3	5	2	1	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:13269234G>A	ENST00000262487.4	+	4	697	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	231	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TGTCTGCAGCGTCACCTGCGG	0.577																																																	0													75	79	78					20																	13269234		2056	4206	6262	SO:0001583	missense	0			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.691G>A	20.37:g.13269234G>A	ENSP00000262487:p.Val231Ile		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.V231I	ENST00000262487.4	37	c.691	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352570	0.61293	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.64618	-0.11;-0.11	5.85	5.85	0.93711	.	0.052555	0.85682	D	0.000000	T	0.66944	0.2841	M	0.86864	2.845	0.80722	D	1	B	0.22800	0.075	B	0.16722	0.016	T	0.64317	-0.6436	10	0.35671	T	0.21	-13.8298	14.3295	0.66545	0.0708:0.0:0.9292:0.0	.	231	B1AKI9	ISM1_HUMAN	I	231;185	ENSP00000262487:V231I;ENSP00000409938:V185I	ENSP00000262487:V231I	V	+	1	0	ISM1	13217234	1.000000	0.71417	0.963000	0.40424	0.757000	0.42996	6.747000	0.74872	2.769000	0.95229	0.650000	0.86243	GTC	ISM1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000101230		0.577	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	-	0	65	0	G			13269234	1	tier1	-	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	A	A	13269234	G	A	13269234	3	1	58	1	0	0	0	0	1	0	0	0	7887	1145	40	1	705	1	ISM1	20	13269234	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6518136	13269234	49756286	2142	16525											
ISM1	140862	genome.wustl.edu	37	chr20	13279856	13279856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaccacgctggcggCacagcactgctgctacggcg	8	4	15	14	4	0	1	0	0	0	1	0	2	0	1	1	4	5	6	1	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:13279856C>T	ENST00000262487.4	+	6	1151	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	382	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						ACGCTGGCGGCACAGCACTGC	0.652																																																	0													21	25	23					20																	13279856		2170	4271	6441	SO:0001583	missense	0			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"chromosome 20 open reading frame 82", "isthmin 1 homolog (zebrafish)"	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1145C>T	20.37:g.13279856C>T	ENSP00000262487:p.Ala382Val		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.A382V	ENST00000262487.4	37	c.1145	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621715	0.87460	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.54479	0.57;0.6	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68191	-0.5474	10	0.66056	D	0.02	-24.9016	20.2133	0.98290	0.0:1.0:0.0:0.0	.	382	B1AKI9	ISM1_HUMAN	V	382;336	ENSP00000262487:A382V;ENSP00000409938:A336V	ENSP00000262487:A382V	A	+	2	0	ISM1	13227856	1.000000	0.71417	0.998000	0.56505	0.608000	0.37181	7.782000	0.85680	2.786000	0.95864	0.655000	0.94253	GCA	ISM1	-	pfam_AMOP,smart_AMOP,pfscan_AMOP	ENSG00000101230		0.652	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	-	0	21	0	C			13279856	1	tier1	-	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	T	T	13279856	C	T	13279856	3	4	58	1	0	0	0	0	1	0	0	0	7887	710	25	3	1167	3	ISM1	20	13279856	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	10622	13279856	49745664	2143	16526											
SEL1L2	80343	genome.wustl.edu	37	chr20	13894524	13894524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttccaaatagcaaagcGtcagccattttctccatagc	14	11	5	11	1	2	0	1	0	1	0	4	0	3	0	3	0	4	1	3	0	5	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:13894524G>A	ENST00000284951.5	-	5	527	c.453C>T	c.(451-453)gaC>gaT	p.D151D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.D151D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	151						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATAGCAAAGCGTCAGCCATTT	0.383																																																	0													86	79	81					20																	13894524		1818	4082	5900	SO:0001819	synonymous_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.453C>T	20.37:g.13894524G>A			B4DXX5	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.D151	ENST00000284951.5	37	c.453		20																																																																																			SEL1L2	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000101251		0.383	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	-	0	30	0	G	NM_025229		13894524	-1	tier1	-	no_errors	ENST00000284951	ensembl	human	known	74_37	silent	33.33	22	11	SNP	0.999	A	A	13894524	G	A	13894524	2	1	58	1	0	0	0	0	0	0	0	1	14056	1136	40	1		1	SEL1L2	20	13894524	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	614668	13894524	49130996	2144	16527											
C20orf26	26074	genome.wustl.edu	37	chr20	20147072	20147073	+	Frame_Shift_Ins	INS	-	-	T																															tatgaattttgttttcagtcINSttttttctgtaagtacatgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:20147072_20147073insT	ENST00000245957.5	+	12	1313_1314	c.1237_1238insT	c.(1237-1239)cttfs	p.L413fs	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Frame_Shift_Ins_p.L413fs|C20orf26_ENST00000451767.2_Frame_Shift_Ins_p.L413fs	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		413										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTTTTCAGTCTTTTTTCTGTA	0.347																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000245957.5:c.1243dupT	20.37:g.20147078_20147078dupT	ENSP00000245957:p.Leu413fs		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Frame_Shift_Ins	INS	superfamily_Acyl_CoA_acyltransferase	p.S415fs	ENST00000245957.5	37	c.1237_1238	CCDS33447.1	20																																																																																			C20orf26	-	NULL	ENSG00000089101		0.347	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3		0	112	0	-			20147073	1	tier1		no_errors	ENST00000245957	ensembl	human	known	74_37	frame_shift_ins	37.80	79	48	INS	1.000:1.000	T	T	20147073	-	T	20147072	7	5	58	1	0	1	1	0	0	0	0	0	2113	913	32	0	1279	0	C20orf26	20	20147072	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	6252548	20147072	42878448	2145	16528											
CD93	22918	genome.wustl.edu	37	chr20	23065105	23065105	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttttgcccgtcagtGccatcgttgttttgtgtggc	4	15	12	10	2	1	0	1	0	0	0	2	0	1	0	2	1	4	4	2	1	0	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:23065105G>T	ENST00000246006.4	-	1	1872	c.1725C>A	c.(1723-1725)ggC>ggA	p.G575G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	575					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCGTCAGTGCCATCGTTGT	0.617																																																	0													139	131	134					20																	23065105		2203	4300	6503	SO:0001819	synonymous_variant	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1725C>A	20.37:g.23065105G>T			O00274	Silent	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.G575	ENST00000246006.4	37	c.1725	CCDS13149.1	20																																																																																			CD93	-	NULL	ENSG00000125810		0.617	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0	78	0	G	NM_012072		23065105	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	silent	30.16	44	19	SNP	0.263	T	T	23065105	G	T	23065105	2	4	58	1	0	0	0	0	0	0	0	1	3054	1306	46	3		3	CD93	20	23065105	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2918033	23065105	39960415	2146	16529											
GZF1	64412	genome.wustl.edu	37	chr20	23347639	23347639	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaatgttgtactttcaGaattcatacaggggaaaaac	15	12	8	6	0	3	2	2	1	1	1	3	3	3	3	0	2	3	2	0	2	6	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:23347639G>T	ENST00000338121.5	+	3	1441		c.e3-1		GZF1_ENST00000377051.2_Splice_Site|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_Intron|GZF1_ENST00000544236.1_Splice_Site			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1						branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTACTTTCAGAATTCATACA	0.363																																																	0													94	93	93					20																	23347639		2203	4300	6503	SO:0001630	splice_region_variant	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	15808	protein-coding gene	gene with protein product		613842	"zinc finger protein 336"	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1365-1G>T	20.37:g.23347639G>T			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Splice_Site	SNP	-	e2-1	ENST00000338121.5	37	c.1365-1	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255084	0.80135	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9233	0.88975	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GZF1	23295639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.480000	0.83734	0.650000	0.86243	.	GZF1	-	-	ENSG00000125812		0.363	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0	31	0	G	NM_022482	Intron	23347639	1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	splice_site	13.33	26	4	SNP	1.000	T	T	23347639	G	T	23347639	5	4	58	1	0	0	0	0	0	0	1	0	6941	956	33	3	1370	3	GZF1	20	23347639	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	282534	23347639	39677881	2147	16530											
NAPB	63908	genome.wustl.edu	37	chr20	23360531	23360531	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttacattctcttgaatcAgtaaatgctggaaacatttc	14	15	5	7	0	2	1	1	1	1	0	4	2	2	2	0	1	3	2	0	1	6	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:23360531A>C	ENST00000377026.4	-	9	793	c.708T>G	c.(706-708)acT>acG	p.T236T	NAPB_ENST00000432543.2_Silent_p.T197T|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Silent_p.T142T|RNA5SP479_ENST00000364858.1_RNA	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	236					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CTCTTGAATCAGTAAATGCTG	0.328																																																	0													51	54	53					20																	23360531		2202	4297	6499	SO:0001819	synonymous_variant	0			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.708T>G	20.37:g.23360531A>C			B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Silent	SNP	prints_NSF_attach	p.T236	ENST00000377026.4	37	c.708	CCDS13152.1	20																																																																																			NAPB	-	prints_NSF_attach	ENSG00000125814		0.328	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	-	0	22	0	A	NM_022080		23360531	-1	tier1	-	no_errors	ENST00000377026	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.996	C	C	23360531	A	C	23360531	2	2	58	1	0	0	0	0	0	0	0	1	10200	175	7	4		4	NAPB	20	23360531	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	12892	23360531	39664989	2148	16531											
TMEM90B	79953	genome.wustl.edu	37	chr20	24523996	24523996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtggagtcccgctaccGgcccaacatcatcctctatt	8	10	8	15	2	3	0	2	0	1	0	5	1	5	1	4	2	2	1	4	2	3	3	rs370102448		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:24523996G>A	ENST00000376862.3	+	2	896	c.263G>A	c.(262-264)cGg>cAg	p.R88Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	88					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TCCCGCTACCGGCCCAACATC	0.672																																																	0								G	GLN/ARG	0,4406		0,0,2203	48	47	47		263	4	0.2	20		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYNDIG1	NM_024893.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	88/259	24523996	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.263G>A	20.37:g.24523996G>A	ENSP00000366058:p.Arg88Gln		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.R88Q	ENST00000376862.3	37	c.263	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878279	0.51801	0.0	1.16E-4	ENSG00000101463	ENST00000376862	D	0.91068	-2.78	5.95	4.01	0.46588	.	0.184523	0.47852	D	0.000207	D	0.86727	0.6002	M	0.70275	2.135	0.46849	D	0.999227	P	0.44006	0.824	B	0.32583	0.148	D	0.84426	0.0574	10	0.45353	T	0.12	-10.4517	10.7276	0.46077	0.1546:0.0:0.8454:0.0	.	88	Q9H7V2	SYNG1_HUMAN	Q	88	ENSP00000366058:R88Q	ENSP00000366058:R88Q	R	+	2	0	SYNDIG1	24471996	1.000000	0.71417	0.214000	0.23707	0.503000	0.33858	3.693000	0.54735	0.854000	0.35336	0.655000	0.94253	CGG	SYNDIG1	-	NULL	ENSG00000101463		0.672	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0	56	0	G	NM_024893		24523996	1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	52.27	21	23	SNP	0.903	A	A	24523996	G	A	24523996	3	1	58	1	0	0	0	0	1	0	0	0	16266	1116	39	1	265	1	TMEM90B	20	24523996	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1163465	24523996	38501524	2149	16532											
KIF3B	9371	genome.wustl.edu	37	chr20	30898271	30898271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcagcgaggtgggcctcGatggtgaaaaccacatccgt	10	7	14	10	3	0	1	0	1	0	0	2	3	1	1	3	3	3	1	3	3	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:30898271G>A	ENST00000375712.3	+	2	858	c.691G>A	c.(691-693)Gat>Aat	p.D231N	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	231	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTGGGCCTCGATGGTGAAAA	0.507																																																	0													60	55	57					20																	30898271		2203	4300	6503	SO:0001583	missense	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.691G>A	20.37:g.30898271G>A	ENSP00000364864:p.Asp231Asn		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D231N	ENST00000375712.3	37	c.691	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656376	0.67586	.	.	ENSG00000101350	ENST00000375712	T	0.74842	-0.88	4.76	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.41573	1.285	0.80722	D	1	B;P	0.43578	0.012;0.811	B;B	0.38985	0.052;0.287	T	0.71227	-0.4655	10	0.44086	T	0.13	.	17.9707	0.89112	0.0:0.0:1.0:0.0	.	231;231	B4DYF2;O15066	.;KIF3B_HUMAN	N	231	ENSP00000364864:D231N	ENSP00000364864:D231N	D	+	1	0	KIF3B	30361932	1.000000	0.71417	0.925000	0.36789	0.889000	0.51656	9.657000	0.98554	2.459000	0.83118	0.561000	0.74099	GAT	KIF3B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000101350		0.507	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	-	0	54	0	G	NM_004798		30898271	1	tier1	-	no_errors	ENST00000375712	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	A	A	30898271	G	A	30898271	3	1	58	1	0	0	0	0	1	0	0	0	8328	1058	37	1	693	1	KIF3B	20	30898271	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6374275	30898271	32127249	2150	16533											
ASXL1	171023	genome.wustl.edu	37	chr20	31021423	31021423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatcctctgcagcaccCgacctggagggtcccgaatt	8	7	11	15	2	1	0	0	0	1	0	3	3	3	1	4	3	2	3	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:31021423C>T	ENST00000375687.4	+	12	1846	c.1422C>T	c.(1420-1422)ccC>ccT	p.P474P	ASXL1_ENST00000306058.5_Silent_p.P469P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	474	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCAGCACCCGACCTGGAGG	0.592			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													105	106	106					20																	31021423		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1422C>T	20.37:g.31021423C>T			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.P474	ENST00000375687.4	37	c.1422	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	52	0	C	NM_015338		31021423	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	silent	50.00	16	16	SNP	0.000	T	T	31021423	C	T	31021423	2	4	58	1	0	0	0	0	0	0	0	1	1067	639	23	1		1	ASXL1	20	31021423	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	123152	31021423	32004097	2151	16534											
NCOA6	23054	genome.wustl.edu	37	chr20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-																															aagatgacacatttccacccGggggtatcataacagtggca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33346694delG	ENST00000374796.2	-	7	3127	c.557delC	c.(556-558)ccgfs	p.P186fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.P186fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATTTCCACCCGGGGGTATCAT	0.453																																																	0													89	90	89					20																	33346694		2203	4300	6503	SO:0001589	frameshift_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.557delC	20.37:g.33346694delG	ENSP00000363929:p.Pro186fs		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	NULL	p.P186fs	ENST00000374796.2	37	c.557	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2		0	45	0	G	NM_014071		33346694	-1	tier1		no_errors	ENST00000359003	ensembl	human	known	74_37	frame_shift_del	23.08	30	9	DEL	0.996	-	-	33346694	G	-	33346694	7	5	58	1	0	1	0	1	0	0	0	0	10272	1116	39	0	5674	0	NCOA6	20	33346694	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	2325271	33346694	29678826	2152	16535											
GGT7	2686	genome.wustl.edu	37	chr20	33437806	33437806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtccgggtgtaggcGgccgcgggccaggctgtcac	4	6	18	13	4	1	0	1	0	0	0	2	0	2	0	3	6	1	3	3	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33437806G>A	ENST00000336431.5	-	14	1827	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	595					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGGTGTAGGCGGCCGCGGGCC	0.612																																																	0													33	38	36					20																	33437806		1937	4136	6073	SO:0001583	missense	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"Gamma-glutamyltransferases"	4259	protein-coding gene	gene with protein product		612342	"gamma-glutamyltransferase-like 3"	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1783C>T	20.37:g.33437806G>A	ENSP00000338964:p.Arg595Cys		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.R595C	ENST00000336431.5	37	c.1783	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272791	0.80580	.	.	ENSG00000131067	ENST00000336431	T	0.35421	1.31	5.87	5.87	0.94306	.	0.049142	0.85682	D	0.000000	T	0.66906	0.2837	H	0.95574	3.69	0.80722	D	1	D;D	0.63046	0.992;0.989	P;P	0.57620	0.786;0.824	T	0.76501	-0.2936	10	0.87932	D	0	-10.5377	14.9754	0.71267	0.0:0.0:0.8572:0.1427	.	595;595	A4FU32;Q9UJ14	.;GGT7_HUMAN	C	595	ENSP00000338964:R595C	ENSP00000338964:R595C	R	-	1	0	GGT7	32901467	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.543000	0.53633	2.941000	0.99782	0.655000	0.94253	CGC	GGT7	-	pfam_GGT_peptidase	ENSG00000131067		0.612	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0	88	0	G	NM_178026		33437806	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	missense	43.48	39	30	SNP	1.000	A	A	33437806	G	A	33437806	3	1	58	1	0	0	0	0	1	0	0	0	6390	1116	39	1	213	1	GGT7	20	33437806	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	91112	33437806	29587714	2153	16536											
EDEM2	55741	genome.wustl.edu	37	chr20	33730239	33730239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtccacgctgtcctggaGcacttcaaccactctttgga	10	10	8	13	1	2	0	1	0	1	0	4	2	4	2	3	2	2	2	3	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33730239G>T	ENST00000374492.3	-	4	406	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	EDEM2_ENST00000374491.3_Missense_Mutation_p.L64I|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000540582.1_Missense_Mutation_p.L60I|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	101					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGTCCTGGAGCACTTCAACC	0.428																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													84	76	79					20																	33730239		2203	4300	6503	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"chromosome 20 open reading frame 31"	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.301C>A	20.37:g.33730239G>T	ENSP00000363616:p.Leu101Ile		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L101I	ENST00000374492.3	37	c.301	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889476	0.72524	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.37915	1.17;1.17;1.17	5.87	5.87	0.94306	.	0.059457	0.64402	D	0.000001	T	0.32645	0.0836	N	0.04636	-0.2	0.80722	D	1	B;P;P	0.44521	0.184;0.804;0.837	B;P;P	0.53224	0.067;0.481;0.721	T	0.20605	-1.0270	10	0.20519	T	0.43	-18.4899	19.8286	0.96626	0.0:0.0:1.0:0.0	.	60;64;101	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	I	64;101;60	ENSP00000363615:L64I;ENSP00000363616:L101I;ENSP00000441548:L60I	ENSP00000363615:L64I	L	-	1	0	EDEM2	33193900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.861000	0.87004	2.785000	0.95823	0.655000	0.94253	CTC	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.428	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	-	0	50	0	G	NM_018217		33730239	-1	tier1	-	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	33730239	G	T	33730239	3	4	58	1	0	0	0	0	1	0	0	0	4926	971	34	3	1467	3	EDEM2	20	33730239	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	292433	33730239	29295281	2154	16537											
MMP24	10893	genome.wustl.edu	37	chr20	33857673	33857673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcgacgcagcctatgaaagGgccgatgggagatttgtctt	10	10	13	8	3	1	2	0	1	1	1	2	5	1	2	2	2	1	1	2	2	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33857673G>T	ENST00000246186.6	+	7	1390	c.1305G>T	c.(1303-1305)agG>agT	p.R435S	MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	435					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CCTATGAAAGGGCCGATGGGA	0.557																																																	0													41	46	44					20																	33857673		1868	4012	5880	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1305G>T	20.37:g.33857673G>T	ENSP00000246186:p.Arg435Ser		B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R435S	ENST00000246186.6	37	c.1305	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524661	0.64747	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.02158	4.42	4.84	-0.375	0.12509	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	M	0.72353	2.195	0.47065	D	0.999303	D	0.56035	0.974	P	0.62885	0.908	T	0.08680	-1.0710	10	0.72032	D	0.01	.	6.0845	0.19960	0.3644:0.1228:0.5128:0.0	.	435	Q9Y5R2	MMP24_HUMAN	S	435;383	ENSP00000246186:R435S	ENSP00000246186:R435S	R	+	3	2	MMP24	33321087	0.461000	0.25783	0.992000	0.48379	0.953000	0.61014	0.000000	0.12993	-0.186000	0.10533	-0.251000	0.11542	AGG	MMP24	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000125966		0.557	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4		0	73	0	G	NM_006690		33857673	1			no_errors	ENST00000246186	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.811	T	T	33857673	G	T	33857673	3	4	58	1	0	0	0	0	1	0	0	0	9699	1223	43	3	1081	3	MMP24	20	33857673	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	127434	33857673	29167847	2155	16538											
FAM83C	128876	genome.wustl.edu	37	chr20	33875260	33875260	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagcagaggtgaccccActgccaaggttaaggggctg	11	5	16	9	0	0	2	0	1	0	1	0	4	0	3	3	5	2	3	3	5	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33875260A>C	ENST00000374408.3	-	4	1418	c.1322T>G	c.(1321-1323)gTg>gGg	p.V441G	EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	441										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGTGACCCCACTGCCAAGGT	0.622																																																	0													54	46	49					20																	33875260		2203	4300	6503	SO:0001583	missense	0			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 128"	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1322T>G	20.37:g.33875260A>C	ENSP00000363529:p.Val441Gly		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.V441G	ENST00000374408.3	37	c.1322	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	A	10.22	1.291012	0.23564	.	.	ENSG00000125998	ENST00000374408	T	0.08720	3.06	4.81	2.52	0.30459	.	0.907308	0.09161	N	0.840243	T	0.08044	0.0201	L	0.50333	1.59	0.22171	N	0.999315	B	0.09022	0.002	B	0.04013	0.001	T	0.43360	-0.9396	10	0.18276	T	0.48	-3.3943	5.3744	0.16156	0.7135:0.1913:0.0952:0.0	.	441	Q9BQN1	FA83C_HUMAN	G	441	ENSP00000363529:V441G	ENSP00000363529:V441G	V	-	2	0	FAM83C	33338674	0.000000	0.05858	0.949000	0.38748	0.953000	0.61014	0.182000	0.16900	0.805000	0.34159	0.459000	0.35465	GTG	FAM83C	-	NULL	ENSG00000125998		0.622	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	-	0	59	0	A			33875260	-1	tier1	-	no_errors	ENST00000374408	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.067	C	C	33875260	A	C	33875260	3	2	58	1	0	0	0	0	1	0	0	0	5657	159	6	4	925	4	FAM83C	20	33875260	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	17587	33875260	29150260	2156	16539											
SPAG4	6676	genome.wustl.edu	37	chr20	34208642	34208642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaaactgaagtttccttgGggaaattcaccttcgatgtt	11	14	9	7	1	1	2	1	2	0	0	3	4	2	3	2	2	1	2	2	2	3	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:34208642G>T	ENST00000374273.3	+	11	1226	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	372	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGTTTCCTTGGGGAAATTCAC	0.547																																																	0													102	113	109					20																	34208642		2203	4300	6503	SO:0001583	missense	0			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"acrosomal protein ACR55", "Sad1 and UNC84 domain containing 4", "cancer/testis antigen 127"	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1114G>T	20.37:g.34208642G>T	ENSP00000363391:p.Gly372Trp		O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.G372W	ENST00000374273.3	37	c.1114	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593373	0.66219	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	T;T	0.61859	0.07;0.07	5.22	5.22	0.72569	Sad1/UNC-like, C-terminal (2);	0.180079	0.47852	D	0.000217	T	0.81927	0.4926	H	0.94462	3.54	0.49130	D	0.999756	D	0.89917	1.0	D	0.97110	1.0	D	0.86345	0.1707	10	0.87932	D	0	-1.901	14.1426	0.65329	0.0:0.0:1.0:0.0	.	372	Q9NPE6	SPAG4_HUMAN	W	372;76	ENSP00000363391:G372W;ENSP00000399231:G76W	ENSP00000363391:G372W	G	+	1	0	SPAG4	33672056	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.674000	0.61612	2.706000	0.92434	0.655000	0.94253	GGG	SPAG4	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000061656		0.547	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	-	0	75	0	G	NM_003116		34208642	1	tier1	-	no_errors	ENST00000374273	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	34208642	G	T	34208642	3	4	58	1	0	0	0	0	1	0	0	0	15027	1232	43	3	1156	3	SPAG4	20	34208642	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	333382	34208642	28816878	2157	16540											
KIAA0406	9675	genome.wustl.edu	37	chr20	36627649	36627649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtcggtgaacgagcgaggGccaggcctgatgagccaagg	10	4	18	9	3	0	3	0	3	0	0	1	6	0	3	3	4	3	0	3	4	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:36627649G>C	ENST00000373448.2	-	6	2972	c.2734C>G	c.(2734-2736)Ccc>Gcc	p.P912A	TTI1_ENST00000373447.3_Missense_Mutation_p.P912A|TTI1_ENST00000449821.1_Missense_Mutation_p.P912A	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	912					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACGAGCGAGGGCCAGGCCTGA	0.562																																																	0													113	97	102					20																	36627649		2203	4300	6503	SO:0001583	missense	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2734C>G	20.37:g.36627649G>C	ENSP00000362547:p.Pro912Ala		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.P912A	ENST00000373448.2	37	c.2734	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291305	0.59976	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.69926	-0.44;-0.44;-0.44	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.052898	0.85682	D	0.000000	T	0.71273	0.3320	M	0.71581	2.175	0.80722	D	1	P	0.46952	0.887	P	0.46758	0.526	T	0.73714	-0.3896	10	0.40728	T	0.16	-15.6684	16.5633	0.84572	0.0:0.0:1.0:0.0	.	912	O43156	TTI1_HUMAN	A	912	ENSP00000362547:P912A;ENSP00000362546:P912A;ENSP00000407270:P912A	ENSP00000362546:P912A	P	-	1	0	TTI1	36061063	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	8.972000	0.93424	2.379000	0.81126	0.563000	0.77884	CCC	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.562	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	-	0	49	0	G	NM_014657		36627649	-1	tier1	-	no_errors	ENST00000373447	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	C	C	36627649	G	C	36627649	3	2	58	1	0	0	0	0	1	0	0	0	8200	1203	42	5	551	5	KIAA0406	20	36627649	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2419007	36627649	26397871	2158	16541											
TGM2	7052	genome.wustl.edu	37	chr20	36789862	36789862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgtctacactggcctcGtagttgcggccctcaaagtg	8	10	11	12	2	2	1	1	0	1	1	3	1	2	1	2	2	2	2	2	2	3	3	rs372553139		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:36789862G>A	ENST00000361475.2	-	2	323	c.150C>T	c.(148-150)taC>taT	p.Y50Y	TGM2_ENST00000536701.1_Silent_p.Y50Y|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	50					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGGCCTCGTAGTTGCGGC	0.642																																																	0													73	56	62					20																	36789862		2203	4300	6503	SO:0001819	synonymous_variant	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"Transglutaminases"	11778	protein-coding gene	gene with protein product	"C polypeptide, protein-glutamine-gamma-glutamyltransferase"	190196	"transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.150C>T	20.37:g.36789862G>A			E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.Y50	ENST00000361475.2	37	c.150	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000198959		0.642	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	-	0	47	0	G	NM_198951		36789862	-1	tier1	-	no_errors	ENST00000361475	ensembl	human	known	74_37	silent	55.17	26	32	SNP	0.938	A	A	36789862	G	A	36789862	2	1	58	1	0	0	0	0	0	0	0	1	15877	1140	40	1		1	TGM2	20	36789862	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	162213	36789862	26235658	2159	16542											
KIAA1755	85449	genome.wustl.edu	37	chr20	36868084	36868084	+	Frame_Shift_Del	DEL	G	G	-																															ttttcctcagtcagtgggctGggggcagtggctgggccaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:36868084delG	ENST00000279024.4	-	4	1864	c.1593delC	c.(1591-1593)cccfs	p.P531fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	531										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCAGTGGGCTGGGGGCAGTGG	0.572																																																	0													44	48	47					20																	36868084		2203	4300	6503	SO:0001589	frameshift_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1593delC	20.37:g.36868084delG	ENSP00000279024:p.Pro531fs		Q9C0A8	Frame_Shift_Del	DEL	superfamily_CRAL-TRIO_dom	p.S532fs	ENST00000279024.4	37	c.1593	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3		0	46	0	G	NM_001029864		36868084	-1	tier1		no_errors	ENST00000279024	ensembl	human	known	74_37	frame_shift_del	45.83	26	22	DEL	0.182	-	-	36868084	G	-	36868084	7	5	58	1	0	1	0	1	0	0	0	0	8284	1335	47	0	2053	0	KIAA1755	20	36868084	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	78222	36868084	26157436	2160	16543											
SLC32A1	140679	genome.wustl.edu	37	chr20	37356883	37356883	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccaaggcgctgttgtcCtatcctctgccattctttgc	4	14	10	13	1	2	0	0	0	2	0	4	0	4	0	4	2	2	2	4	2	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:37356883C>A	ENST00000217420.1	+	2	1442	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	393					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCTGTTGTCCTATCCTCTGC	0.627																																																	0													81	78	79					20																	37356883		2203	4300	6503	SO:0001819	synonymous_variant	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"Solute carriers"	11018	protein-coding gene	gene with protein product			"vesicular inhibitory amino acid transporter"	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1179C>A	20.37:g.37356883C>A			Q8N489	Silent	SNP	pfam_AA_transpt_TM	p.S393	ENST00000217420.1	37	c.1179	CCDS13307.1	20																																																																																			SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.627	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	-	0	52	0	C	NM_080552		37356883	1	tier1	-	no_errors	ENST00000217420	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.996	A	A	37356883	C	A	37356883	2	1	58	1	0	0	0	0	0	0	0	1	14610	668	24	3		3	SLC32A1	20	37356883	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	488799	37356883	25668637	2161	16544											
PPP1R16B	26051	genome.wustl.edu	37	chr20	37529287	37529287	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgacctctgcgaggatgaAcccaccctggatgtcatcga	10	9	10	12	2	2	2	1	2	1	0	3	6	2	4	3	2	2	0	3	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:37529287A>G	ENST00000299824.1	+	5	720	c.531A>G	c.(529-531)gaA>gaG	p.E177E	PPP1R16B_ENST00000373331.2_Silent_p.E177E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	177					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCGAGGATGAACCCACCCTGG	0.572																																																	0													150	99	116					20																	37529287		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.531A>G	20.37:g.37529287A>G			A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E177	ENST00000299824.1	37	c.531	CCDS13309.1	20	.	.	.	.	.	.	.	.	.	.	A	10.06	1.248073	0.22880	.	.	ENSG00000101445	ENST00000438192	.	.	.	4.98	1.95	0.26073	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49409	-0.8943	4	.	.	.	.	7.773	0.29019	0.4224:0.0:0.5776:0.0	.	.	.	.	S	120	.	.	N	+	2	0	PPP1R16B	36962701	0.783000	0.28701	1.000000	0.80357	0.996000	0.88848	-0.063000	0.11655	0.761000	0.33130	-0.242000	0.12053	AAC	PPP1R16B	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom	ENSG00000101445		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	-	0	51	0	A	NM_015568		37529287	1	tier1	-	no_errors	ENST00000299824	ensembl	human	known	74_37	silent	40.38	31	21	SNP	1.000	G	G	37529287	A	G	37529287	2	3	58	1	0	0	0	0	0	0	0	1	12408	40	2	4		4	PPP1R16B	20	37529287	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	172404	37529287	25496233	2162	16545											
LPIN3	64900	genome.wustl.edu	37	chr20	39977440	39977440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagaaagaggatgcagTggcaactgattctagtccag	14	7	12	8	0	1	3	0	1	1	2	2	4	2	4	1	2	3	3	1	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:39977440T>C	ENST00000373257.3	+	4	561	c.470T>C	c.(469-471)gTg>gCg	p.V157A		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	157					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGGATGCAGTGGCAACTGAT	0.617																																																	0													49	46	47					20																	39977440		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.470T>C	20.37:g.39977440T>C	ENSP00000362354:p.Val157Ala		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.V157A	ENST00000373257.3	37	c.470	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	T	0.616	-0.823145	0.02755	.	.	ENSG00000132793	ENST00000373257	T	0.79940	-1.32	3.55	1.12	0.20585	.	1.482540	0.04817	N	0.436303	T	0.71187	0.3310	L	0.41236	1.265	0.09310	N	1	B;B	0.15930	0.002;0.015	B;B	0.14578	0.007;0.011	T	0.50048	-0.8873	9	.	.	.	-1.2461	4.383	0.11304	0.0:0.1114:0.201:0.6876	.	157;157	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	A	157	ENSP00000362354:V157A	.	V	+	2	0	LPIN3	39410854	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.144000	0.10280	0.086000	0.17137	0.533000	0.62120	GTG	LPIN3	-	NULL	ENSG00000132793		0.617	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	28	0	T	NM_022896		39977440	1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.004	C	C	39977440	T	C	39977440	3	2	58	1	0	0	0	0	1	0	0	0	8955	1696	59	4	480	4	LPIN3	20	39977440	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	2448153	39977440	23048080	2163	16546											
CHD6	84181	genome.wustl.edu	37	chr20	40054758	40054758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgtcatccttcttttcGctaaaaacgccatcacctcc	8	12	5	16	3	3	0	2	0	1	0	6	0	5	0	4	1	1	2	4	1	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:40054758G>A	ENST00000373233.3	-	28	4281	c.4104C>T	c.(4102-4104)agC>agT	p.S1368S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1368					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTTCTTTTCGCTAAAAACGC	0.433																																																	0													200	196	198					20																	40054758		2203	4300	6503	SO:0001819	synonymous_variant	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4104C>T	20.37:g.40054758G>A			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1368	ENST00000373233.3	37	c.4104	CCDS13317.1	20																																																																																			CHD6	-	NULL	ENSG00000124177		0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	-	0	37	0	G			40054758	-1	tier1	-	no_errors	ENST00000373233	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.999	A	A	40054758	G	A	40054758	2	1	58	1	0	0	0	0	0	0	0	1	3336	1078	38	1		1	CHD6	20	40054758	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	77318	40054758	22970762	2164	16547											
PTPRT	11122	genome.wustl.edu	37	chr20	40757467	40757467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctcacccgggaatggTcgtctgcagagagagcagaa	11	5	14	11	2	2	3	1	0	1	3	3	5	2	4	2	2	3	3	2	2	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:40757467T>C	ENST00000373187.1	-	19	2773	c.2774A>G	c.(2773-2775)gAc>gGc	p.D925G	PTPRT_ENST00000356100.2_Missense_Mutation_p.D934G|PTPRT_ENST00000373201.1_Missense_Mutation_p.D915G|PTPRT_ENST00000373198.4_Missense_Mutation_p.D944G|PTPRT_ENST00000373193.3_Missense_Mutation_p.D928G|PTPRT_ENST00000373190.1_Missense_Mutation_p.D924G|PTPRT_ENST00000373184.1_Missense_Mutation_p.D915G			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	925	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCGGGAATGGTCGTCTGCAGA	0.498																																																	0													59	67	64					20																	40757467		2077	4208	6285	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2774A>G	20.37:g.40757467T>C	ENSP00000362283:p.Asp925Gly		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D944G	ENST00000373187.1	37	c.2831	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308189	0.81247	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89126	0.3506	10	0.87932	D	0	.	11.9358	0.52872	0.0:0.0:0.0:1.0	.	947;925	O14522-1;O14522	.;PTPRT_HUMAN	G	924;925;928;934;947;915;915	ENSP00000362286:D924G;ENSP00000362283:D925G;ENSP00000362289:D928G;ENSP00000348408:D934G;ENSP00000362294:D947G;ENSP00000362280:D915G;ENSP00000362297:D915G	ENSP00000348408:D934G	D	-	2	0	PTPRT	40190881	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.947000	0.70242	2.138000	0.66242	0.533000	0.62120	GAC	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196090		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	28	0	T			40757467	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	C	C	40757467	T	C	40757467	3	2	58	1	0	0	0	0	1	0	0	0	12857	1667	58	4	1603	4	PTPRT	20	40757467	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	702709	40757467	22268053	2165	16548											
PTPRT	11122	genome.wustl.edu	37	chr20	41101109	41101109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggttgtagctatggcagCgggtcaccgcgtagccgaag	8	8	16	9	4	1	1	1	1	0	0	1	2	1	1	2	3	3	5	2	3	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:41101109C>T	ENST00000373187.1	-	8	1246	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	PTPRT_ENST00000356100.2_Missense_Mutation_p.R416H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R416H|PTPRT_ENST00000373198.4_Missense_Mutation_p.R416H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R416H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R416H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R416H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	416	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTATGGCAGCGGGTCACCGC	0.592																																																	0													55	63	60					20																	41101109		2111	4241	6352	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1247G>A	20.37:g.41101109C>T	ENSP00000362283:p.Arg416His		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R416H	ENST00000373187.1	37	c.1247	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.219759	0.95139	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.46	4.52	0.55395	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.76323	-0.3001	10	0.72032	D	0.01	.	14.1231	0.65203	0.0:0.9274:0.0:0.0726	.	416;416	O14522-1;O14522	.;PTPRT_HUMAN	H	416	ENSP00000362286:R416H;ENSP00000362283:R416H;ENSP00000362289:R416H;ENSP00000348408:R416H;ENSP00000362294:R416H;ENSP00000362280:R416H;ENSP00000362297:R416H	ENSP00000348408:R416H	R	-	2	0	PTPRT	40534523	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.652000	0.83633	1.313000	0.45069	0.462000	0.41574	CGC	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	58	0	C			41101109	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	46.30	29	25	SNP	1.000	T	T	41101109	C	T	41101109	3	4	58	1	0	0	0	0	1	0	0	0	12857	768	27	1	3235	1	PTPRT	20	41101109	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	343642	41101109	21924411	2166	16549											
SFRS6	6431	genome.wustl.edu	37	chr20	42088772	42088772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctactctgacatgaagCgtgctttggacaaactggat	10	11	10	10	1	1	2	0	2	1	0	2	4	2	4	1	2	4	2	1	2	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:42088772C>T	ENST00000244020.3	+	4	587	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TGACATGAAGCGTGCTTTGGA	0.448																																																	0													124	121	122					20																	42088772		2203	4298	6501	SO:0001583	missense	0			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.481C>T	20.37:g.42088772C>T	ENSP00000244020:p.Arg161Cys		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.R161C	ENST00000244020.3	37	c.481	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402067	0.62288	.	.	ENSG00000124193	ENST00000244020	T	0.17691	2.26	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042694	0.85682	D	0.000000	T	0.40546	0.1121	M	0.87617	2.895	0.80722	D	1	P;D	0.55800	0.94;0.973	B;P	0.54270	0.43;0.747	T	0.35943	-0.9768	10	0.66056	D	0.02	.	14.3009	0.66352	0.1487:0.8513:0.0:0.0	.	161;161	Q13247;A8K588	SRSF6_HUMAN;.	C	161	ENSP00000244020:R161C	ENSP00000244020:R161C	R	+	1	0	SRSF6	41522186	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.818000	0.48041	2.894000	0.99253	0.591000	0.81541	CGT	SRSF6	-	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	ENSG00000124193		0.448	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1	-	0	44	0	C	NM_006275		42088772	1	tier1	-	no_errors	ENST00000244020	ensembl	human	known	74_37	missense	35.42	31	17	SNP	1.000	T	T	42088772	C	T	42088772	3	4	58	1	0	0	0	0	1	0	0	0	14226	768	27	1	495	1	SFRS6	20	42088772	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	987663	42088772	20936748	2167	16550											
R3HDML	140902	genome.wustl.edu	37	chr20	42972026	42972026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccccaggtaccggtcCgtagtggatctcatgaagtc	7	9	11	14	3	1	1	1	1	1	0	5	2	3	2	5	3	1	2	5	3	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:42972026C>T	ENST00000217043.2	+	3	562	c.390C>T	c.(388-390)tcC>tcT	p.S130S	Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	130	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GGTACCGGTCCGTAGTGGATC	0.597																																																	0													105	74	85					20																	42972026		2203	4300	6503	SO:0001819	synonymous_variant	0			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing-like"				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.390C>T	20.37:g.42972026C>T				Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.S130	ENST00000217043.2	37	c.390	CCDS13329.1	20																																																																																			R3HDML	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000101074		0.597	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	R3HDML	HGNC	protein_coding	OTTHUMT00000079344.1	-	0	86	0	C	NM_178491		42972026	1	tier1	-	no_errors	ENST00000217043	ensembl	human	known	74_37	silent	37.84	46	28	SNP	0.000	T	T	42972026	C	T	42972026	2	4	58	1	0	0	0	0	0	0	0	1	12934	639	23	1		1	R3HDML	20	42972026	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	883254	42972026	20053494	2168	16551											
SEMG2	6407	genome.wustl.edu	37	chr20	43851942	43851942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgagtcacataatattGtaattactgagcatgaggtt	13	13	9	6	0	1	3	1	3	0	0	1	3	1	3	1	1	2	3	1	1	4	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:43851942G>T	ENST00000372769.3	+	2	1759	c.1669G>T	c.(1669-1671)Gta>Tta	p.V557L		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	557	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.V557L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACATAATATTGTAATTACTGA	0.383																																																	1	Substitution - Missense(1)	autonomic_ganglia(1)											92	79	83					20																	43851942		2203	4300	6503	SO:0001583	missense	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1669G>T	20.37:g.43851942G>T	ENSP00000361855:p.Val557Leu		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	pfam_Semenogelin	p.V557L	ENST00000372769.3	37	c.1669	CCDS13346.1	20	.	.	.	.	.	.	.	.	.	.	G	7.399	0.632386	0.14322	.	.	ENSG00000124157	ENST00000372769	T	0.12039	2.72	0.751	-1.5	0.08691	.	.	.	.	.	T	0.27594	0.0678	M	0.69823	2.125	0.09310	N	1	P;D	0.63046	0.92;0.992	D;D	0.74348	0.935;0.983	T	0.11275	-1.0594	8	0.36615	T	0.2	.	.	.	.	.	557;557	A8K6Z6;Q02383	.;SEMG2_HUMAN	L	557	ENSP00000361855:V557L	ENSP00000361855:V557L	V	+	1	0	SEMG2	43285356	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.140000	0.10342	-0.716000	0.04962	-0.258000	0.10820	GTA	SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.383	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1		0	25	0	G	NM_003008		43851942	1			no_errors	ENST00000372769	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.000	T	T	43851942	G	T	43851942	3	4	58	1	0	0	0	0	1	0	0	0	14090	1377	48	3	1675	3	SEMG2	20	43851942	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	879916	43851942	19173578	2169	16552											
UBE2C	11065	genome.wustl.edu	37	chr20	44443031	44443031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctccccagatgtctggCgataaagggatttctgcctt	7	15	9	10	1	3	1	0	0	3	1	4	3	3	2	3	2	1	0	3	2	2	5	rs571249783		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44443031C>T	ENST00000356455.4	+	3	258	c.138C>T	c.(136-138)ggC>ggT	p.G46G	UBE2C_ENST00000372568.4_Silent_p.G7G|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000352551.5_Intron|UBE2C_ENST00000335046.3_Silent_p.G46G|UBE2C_ENST00000405520.1_Silent_p.G7G	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	46					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AGATGTCTGGCGATAAAGGGA	0.458													C|||	1	0.000199681	0	0	5008	,	,		16067	0		0	False		,,,				2504	0.001																0													87	73	77					20																	44443031		2203	4300	6503	SO:0001819	synonymous_variant	0			U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"Ubiquitin-conjugating enzymes E2"	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.138C>T	20.37:g.44443031C>T			A6NP33|E1P5N7|G3XAB7	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G46	ENST00000356455.4	37	c.138	CCDS13370.1	20																																																																																			UBE2C	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000175063		0.458	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2C	HGNC	protein_coding	OTTHUMT00000080309.2	-	0	74	0	C	NM_007019		44443031	1	tier1	-	no_errors	ENST00000356455	ensembl	human	known	74_37	silent	49.02	26	25	SNP	0.977	T	T	44443031	C	T	44443031	2	4	58	1	0	0	0	0	0	0	0	1	16895	755	27	1		1	UBE2C	20	44443031	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	591089	44443031	18582489	2170	16553											
TNNC2	7125	genome.wustl.edu	37	chr20	44453471	44453471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcagcctgctggtcCgtctgcaggagacacagaga	8	7	13	13	1	2	2	1	0	1	2	3	4	3	2	3	3	3	2	3	3	0	0	rs148902583		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44453471C>T	ENST00000372555.3	-	2	98	c.6G>A	c.(4-6)acG>acA	p.T2T	TNNC2_ENST00000372557.1_5'UTR	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	2				TD -> DT (in Ref. 9; AA sequence). {ECO:0000305}.	muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CCTGCTGGTCCGTCTGCAGGA	0.612																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	109	112	111		6	0.7	1	20	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	TNNC2	NM_003279.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2/161	44453471	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"EF-hand domain containing"	11944	protein-coding gene	gene with protein product		191039	"troponin C2, fast"			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.6G>A	20.37:g.44453471C>T			Q6FH92	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T2	ENST00000372555.3	37	c.6	CCDS13375.1	20																																																																																			TNNC2	-	NULL	ENSG00000101470		0.612	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	-	0	41	0	C	NM_003279		44453471	-1	tier1	rs148902583	no_errors	ENST00000372555	ensembl	human	known	74_37	silent	45.71	19	16	SNP	0.941	T	T	44453471	C	T	44453471	2	4	58	1	0	0	0	0	0	0	0	1	16372	639	23	1		1	TNNC2	20	44453471	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	10440	44453471	18572049	2171	16554											
MMP9	4318	genome.wustl.edu	37	chr20	44641089	44641089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagtttgttcctcgtggcgGcgcatgagttcggccacgcg	5	10	14	12	6	0	1	0	1	0	0	3	1	1	1	2	3	0	4	2	3	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44641089G>A	ENST00000372330.3	+	8	1217	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	400					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCTCGTGGCGGCGCATGAGTT	0.652																																																	0													56	55	56					20																	44641089		2203	4300	6503	SO:0001583	missense	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1198G>A	20.37:g.44641089G>A	ENSP00000361405:p.Ala400Thr		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.A400T	ENST00000372330.3	37	c.1198	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323394	0.81580	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.25250	1.81	4.99	4.99	0.66335	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58640	-0.7601	10	0.87932	D	0	.	17.4497	0.87588	0.0:0.0:1.0:0.0	.	400	P14780	MMP9_HUMAN	T	400;45	ENSP00000361405:A400T	ENSP00000361405:A400T	A	+	1	0	MMP9	44074496	1.000000	0.71417	0.193000	0.23327	0.119000	0.20118	9.519000	0.98025	2.606000	0.88127	0.561000	0.74099	GCG	MMP9	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A	ENSG00000100985		0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	-	0	81	0	G			44641089	1	tier1	-	no_errors	ENST00000372330	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.998	A	A	44641089	G	A	44641089	3	1	58	1	0	0	0	0	1	0	0	0	9707	1203	42	3	1228	3	MMP9	20	44641089	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	187618	44641089	18384431	2172	16555											
SLC12A5	57468	genome.wustl.edu	37	chr20	44669992	44669992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctcctgggtaaccgcacGctgtctcgccatggctttga	5	11	11	14	3	1	1	0	1	1	0	3	1	2	1	4	2	2	4	4	2	1	2	rs138406290		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44669992G>A	ENST00000454036.2	+	8	997	c.948G>A	c.(946-948)acG>acA	p.T316T	SLC12A5_ENST00000243964.3_Silent_p.T293T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	316					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTAACCGCACGCTGTCTCGCC	0.582																																																	0													96	86	90					20																	44669992		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.948G>A	20.37:g.44669992G>A			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.T316	ENST00000454036.2	37	c.948	CCDS46610.1	20																																																																																			SLC12A5	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	54	0	G			44669992	1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.982	A	A	44669992	G	A	44669992	2	1	58	1	0	0	0	0	0	0	0	1	14431	1074	38	1		1	SLC12A5	20	44669992	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	28903	44669992	18355528	2173	16556											
ELMO2	63916	genome.wustl.edu	37	chr20	45014792	45014792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagatgagctgtcccacGgtgatttcctcggctatctt	6	14	11	10	2	1	3	0	3	1	1	4	4	3	3	2	2	1	2	2	2	1	3	rs145510870		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:45014792G>A	ENST00000290246.6	-	9	842	c.648C>T	c.(646-648)acC>acT	p.T216T	ELMO2_ENST00000445496.2_Silent_p.T33T|ELMO2_ENST00000352077.2_Silent_p.T214T|ELMO2_ENST00000372176.1_Silent_p.T128T|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Silent_p.T216T|ELMO2_ENST00000439931.2_Silent_p.T216T	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	216					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCTGTCCCACGGTGATTTCCT	0.507																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	131	121	124		648,648	1.6	1	20	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ELMO2	NM_133171.3,NM_182764.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	216/721,216/721	45014792	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"Engulfment and cell motility proteins"	17233	protein-coding gene	gene with protein product		606421	"engulfment and cell motility 2 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.648C>T	20.37:g.45014792G>A			E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.T216	ENST00000290246.6	37	c.648	CCDS13398.1	20																																																																																			ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.507	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	-	0	30	0	G	NM_022086		45014792	-1	tier1	rs145510870	no_errors	ENST00000439931	ensembl	human	known	74_37	silent	24.00	19	6	SNP	1.000	A	A	45014792	G	A	45014792	2	1	58	1	0	0	0	0	0	0	0	1	5082	1103	39	1		1	ELMO2	20	45014792	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	344800	45014792	18010728	2174	16557											
NCOA3	8202	genome.wustl.edu	37	chr20	46279857	46279857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcaacagcaacagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs561036149	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:46279857G>A	ENST00000371998.3	+	20	3974	c.3783G>A	c.(3781-3783)caG>caA	p.Q1261Q	NCOA3_ENST00000372004.3_Silent_p.Q1257Q|NCOA3_ENST00000371997.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1187Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1261	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcagcaac	0.572													G|||	3	0.000599042	8e-04	0	5008	,	,		14246	0		0	False		,,,				2504	0.002																0													50	54	53					20																	46279857		2203	4300	6503	SO:0001819	synonymous_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3783G>A	20.37:g.46279857G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1261	ENST00000371998.3	37	c.3783	CCDS13407.1	20																																																																																			NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.572	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0	86	0	G	NM_006534		46279857	1			no_errors	ENST00000371998	ensembl	human	known	74_37	silent	5.88	60	4	SNP	0.971	A	A	46279857	G	A	46279857	2	1	58	1	0	0	0	0	0	0	0	1	10269	962	34	3		3	NCOA3	20	46279857	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1265065	46279857	16745663	2175	16558											
SPATA2	9825	genome.wustl.edu	37	chr20	48522909	48522909	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttccgaagactcaatgaGgccttcaggggtggcttccg	7	10	12	12	2	2	2	2	1	0	1	5	3	5	2	4	4	0	1	4	4	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:48522909G>T	ENST00000422556.1	-	3	1159	c.810C>A	c.(808-810)gcC>gcA	p.A270A	SPATA2_ENST00000289431.5_Silent_p.A270A|SPATA2_ENST00000543716.1_Silent_p.A133A	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	270					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GACTCAATGAGGCCTTCAGGG	0.617																																																	0													52	53	52					20																	48522909		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 145"	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.810C>A	20.37:g.48522909G>T			E1P626|O94857	Silent	SNP	NULL	p.A270	ENST00000422556.1	37	c.810	CCDS13422.1	20																																																																																			SPATA2	-	NULL	ENSG00000158480		0.617	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2	HGNC	protein_coding	OTTHUMT00000079658.1	-	0	76	0	G	NM_006038		48522909	-1	tier1	-	no_errors	ENST00000289431	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.999	T	T	48522909	G	T	48522909	2	4	58	1	0	0	0	0	0	0	0	1	15052	987	35	3		3	SPATA2	20	48522909	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2243052	48522909	14502611	2176	16559											
RNF114	55905	genome.wustl.edu	37	chr20	48568670	48568670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgcagcgctccatcatcGaccagtgagcagagtccgtg	8	9	12	12	3	1	2	1	1	0	1	4	3	3	2	3	0	3	4	3	0	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:48568670G>A	ENST00000244061.2	+	6	681	c.679G>A	c.(679-681)Gac>Aac	p.D227N		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	227					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CTCCATCATCGACCAGTGAGC	0.438																																																	0													228	185	200					20																	48568670		2203	4300	6503	SO:0001583	missense	0			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"RING-type (C3HC4) zinc fingers"	13094	protein-coding gene	gene with protein product		612451	"zinc finger protein 313"	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.679G>A	20.37:g.48568670G>A	ENSP00000244061:p.Asp227Asn		B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	pfam_Di19_Zn_binding,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D227N	ENST00000244061.2	37	c.679	CCDS33482.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.555477|5.555477	0.96514|0.96514	.|.	.|.	ENSG00000124226|ENSG00000124226	ENST00000449816|ENST00000244061	.|D	.|0.82255	.|-1.59	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.135282	.|0.64402	.|D	.|0.000003	.|D	.|0.88955	.|0.6578	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.64506	.|0.926	.|D	.|0.88742	.|0.3244	.|10	.|0.87932	.|D	.|0	.|.	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227	.|Q9Y508	.|RN114_HUMAN	.|N	-1|227	.|ENSP00000244061:D227N	.|ENSP00000244061:D227N	.|D	+|+	.|1	.|0	RNF114|RNF114	48002077|48002077	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.988000|0.988000	0.76386|0.76386	7.983000|7.983000	0.88140|0.88140	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	.|GAC	RNF114	-	NULL	ENSG00000124226		0.438	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	RNF114	HGNC	protein_coding	OTTHUMT00000079663.1	-	0	80	0	G	NM_018683		48568670	1	tier1	-	no_errors	ENST00000244061	ensembl	human	known	74_37	missense	35.42	31	17	SNP	1.000	A	A	48568670	G	A	48568670	3	1	58	1	0	0	0	0	1	0	0	0	13474	1058	37	1	701	1	RNF114	20	48568670	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	45761	48568670	14456850	2177	16560											
PTPN1	5770	genome.wustl.edu	37	chr20	49197838	49197838	+	Frame_Shift_Del	DEL	G	G	-																															gaagttagaagtcgggtcgtGgggggaagtcttcgaggtgc																								rs149610824	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:49197838delG	ENST00000371621.3	+	9	1299	c.1125delG	c.(1123-1125)gtgfs	p.V375fs	PTPN1_ENST00000541713.1_Frame_Shift_Del_p.V302fs	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	375					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GTCGGGTCGTGGGGGGAAGTC	0.562																																																	0													72	62	65					20																	49197838		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1125delG	20.37:g.49197838delG	ENSP00000360683:p.Val375fs		Q5TGD8|Q9BQV9|Q9NQQ4	Frame_Shift_Del	DEL	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G377fs	ENST00000371621.3	37	c.1125	CCDS13430.1	20																																																																																			PTPN1	-	pirsf_Ptpn1/Ptpn2	ENSG00000196396		0.562	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2		0	48	0	G			49197838	1	tier1		no_errors	ENST00000371621	ensembl	human	known	74_37	frame_shift_del	23.53	26	8	DEL	0.004	-	-	49197838	G	-	49197838	7	5	58	1	0	1	0	1	0	0	0	0	12822	1335	47	0	1159	0	PTPN1	20	49197838	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	629168	49197838	13827682	2178	16561											
PTPN1	5770	genome.wustl.edu	37	chr20	49197980	49197980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacggtcctcacggccggcGcttacctctgctacagggta	6	9	11	15	4	2	0	1	0	1	0	3	0	3	0	3	4	4	3	3	4	4	4	rs367996563		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:49197980G>A	ENST00000371621.3	+	9	1441	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	PTPN1_ENST00000541713.1_Missense_Mutation_p.A350T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	423					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.A423T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CACGGCCGGCGCTTACCTCTG	0.602																																																	1	Substitution - Missense(1)	endometrium(1)											82	57	65					20																	49197980		2203	4300	6503	SO:0001583	missense	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1267G>A	20.37:g.49197980G>A	ENSP00000360683:p.Ala423Thr		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A423T	ENST00000371621.3	37	c.1267	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.599916	0.96614	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.06768	3.86;3.26	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.22627	0.0546	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.00086	-1.2096	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	423	P18031	PTN1_HUMAN	T	423;350	ENSP00000360683:A423T;ENSP00000437732:A350T	ENSP00000360683:A423T	A	+	1	0	PTPN1	48631387	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.276000	0.78559	2.941000	0.99782	0.655000	0.94253	GCT	PTPN1	-	pirsf_Ptpn1/Ptpn2	ENSG00000196396		0.602	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2	-	0	28	0	G			49197980	1	tier1	-	no_errors	ENST00000371621	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A	A	49197980	G	A	49197980	3	1	58	1	0	0	0	0	1	0	0	0	12822	1087	38	1	1301	1	PTPN1	20	49197980	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	142	49197980	13827540	2179	16562											
ATP9A	10079	genome.wustl.edu	37	chr20	50235287	50235287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcacatcggcagcagactAcggccgggcactggcaggcc	8	3	16	14	3	0	1	0	0	0	1	1	1	0	1	2	6	2	5	2	6	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:50235287A>G	ENST00000338821.5	-	21	2528	c.2264T>C	c.(2263-2265)gTa>gCa	p.V755A	ATP9A_ENST00000402822.1_Missense_Mutation_p.V634A|ATP9A_ENST00000311637.5_Missense_Mutation_p.V619A	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	755					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCAGACTACGGCCGGGCA	0.632																																																	0													35	38	37					20																	50235287		2202	4299	6501	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2264T>C	20.37:g.50235287A>G	ENSP00000342481:p.Val755Ala		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V755A	ENST00000338821.5	37	c.2264	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934985	0.92458	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.88664	-2.41;-2.41;-2.41	5.35	5.35	0.76521	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	M	0.88450	2.955	0.80722	D	1	P;D	0.89917	0.954;1.0	D;D	0.87578	0.932;0.998	D	0.96029	0.9015	10	0.87932	D	0	-32.0684	15.3355	0.74250	1.0:0.0:0.0:0.0	.	634;755	O75110-2;O75110	.;ATP9A_HUMAN	A	619;755;634	ENSP00000309086:V619A;ENSP00000342481:V755A;ENSP00000385875:V634A	ENSP00000309086:V619A	V	-	2	0	ATP9A	49668694	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.929000	0.92859	2.017000	0.59298	0.533000	0.62120	GTA	ATP9A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000054793		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0	126	0	A	NM_006045		50235287	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	46.23	57	49	SNP	1.000	G	G	50235287	A	G	50235287	3	3	58	1	0	0	0	0	1	0	0	0	1199	391	14	4	911	4	ATP9A	20	50235287	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	1037307	50235287	12790233	2180	16563											
CYP24A1	1591	genome.wustl.edu	37	chr20	52782309	52782309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccatgatgaagttcacaGcttcatcccctgcattcttc	8	13	7	13	0	3	2	2	2	1	0	5	2	4	2	3	1	2	3	3	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:52782309G>T	ENST00000216862.3	-	5	1097	c.704C>A	c.(703-705)gCt>gAt	p.A235D	CYP24A1_ENST00000395954.3_Missense_Mutation_p.A93D|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A235D	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	235					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.A235D(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GAAGTTCACAGCTTCATCCCC	0.388																																																	1	Substitution - Missense(1)	endometrium(1)											130	117	121					20																	52782309		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.704C>A	20.37:g.52782309G>T	ENSP00000216862:p.Ala235Asp		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A235D	ENST00000216862.3	37	c.704	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976472	0.53720	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.69926	-0.44;-0.44;-0.44	5.37	5.37	0.77165	.	0.422973	0.25200	N	0.032389	T	0.80171	0.4574	M	0.82323	2.585	0.39242	D	0.96387	D;D;D	0.57899	0.981;0.966;0.966	P;P;P	0.57776	0.827;0.827;0.761	D	0.84023	0.0355	10	0.72032	D	0.01	-16.1	14.8201	0.70065	0.0:0.1547:0.8453:0.0	.	235;235;93	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	D	235;235;93	ENSP00000216862:A235D;ENSP00000379285:A235D;ENSP00000379284:A93D	ENSP00000216862:A235D	A	-	2	0	CYP24A1	52215716	1.000000	0.71417	0.311000	0.25182	0.288000	0.27193	5.306000	0.65756	2.672000	0.90937	0.557000	0.71058	GCT	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000019186		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0	54	0	G			52782309	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.981	T	T	52782309	G	T	52782309	3	4	58	1	0	0	0	0	1	0	0	0	4163	971	34	3	868	3	CYP24A1	20	52782309	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2547022	52782309	10243211	2181	16564											
RAE1	8480	genome.wustl.edu	37	chr20	55929119	55929119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtttggaacaacctcaGgttttggaaccagtgggacc	9	10	12	10	0	1	0	1	0	0	0	1	3	1	3	4	4	3	2	4	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:55929119G>T	ENST00000395841.2	+	2	445	c.25G>T	c.(25-27)Ggt>Tgt	p.G9C	RAE1_ENST00000527947.1_Missense_Mutation_p.G9C|RAE1_ENST00000395840.2_Missense_Mutation_p.G9C|RAE1_ENST00000371242.2_Missense_Mutation_p.G9C	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	9					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AACAACCTCAGGTTTTGGAAC	0.418																																																	0													119	114	115					20																	55929119		2203	4300	6503	SO:0001583	missense	0			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"WD repeat domain containing"	9828	protein-coding gene	gene with protein product		603343	"RAE1 (RNA export 1, S.pombe) homolog", "RAE1 RNA export 1 homolog (S. pombe)"			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.25G>T	20.37:g.55929119G>T	ENSP00000379182:p.Gly9Cys		A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G9C	ENST00000395841.2	37	c.25	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591733	0.66219	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000411894;ENST00000429339;ENST00000395840;ENST00000452119	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.16;0.4;0.4;-0.36	5.87	5.87	0.94306	.	0.046925	0.85682	D	0.000000	T	0.80513	0.4637	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.905	D;P	0.72625	0.978;0.706	T	0.78031	-0.2363	10	0.45353	T	0.12	-0.1819	19.3531	0.94398	0.0:0.0:1.0:0.0	.	9;9	E9PQ57;P78406	.;RAE1L_HUMAN	C	9	ENSP00000379182:G9C;ENSP00000360286:G9C;ENSP00000432609:G9C;ENSP00000392097:G9C;ENSP00000393264:G9C;ENSP00000379181:G9C	ENSP00000360286:G9C	G	+	1	0	RAE1	55362526	1.000000	0.71417	0.808000	0.32385	0.973000	0.67179	5.970000	0.70431	2.941000	0.99782	0.655000	0.94253	GGT	RAE1	-	NULL	ENSG00000101146		0.418	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	HGNC	protein_coding	OTTHUMT00000079842.2	-	0	83	0	G			55929119	1	tier1	-	no_errors	ENST00000371242	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.998	T	T	55929119	G	T	55929119	3	4	58	1	0	0	0	0	1	0	0	0	13043	1000	35	3	27	3	RAE1	20	55929119	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3146810	55929119	7096401	2182	16565											
NPEPL1	79716	genome.wustl.edu	37	chr20	57268948	57268948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgcggctggtgcggacctgCctgccgcccggagcgcatcg	4	5	16	16	7	0	0	0	0	0	0	1	2	0	2	4	4	4	2	4	4	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:57268948C>T	ENST00000356091.6	+	2	594	c.306C>T	c.(304-306)tgC>tgT	p.C102C	NPEPL1_ENST00000525967.1_Silent_p.C74C|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.C54C	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGCGGACCTGCCTGCCGCCCG	0.692																																																	0													14	17	16					20																	57268948		2136	4225	6361	SO:0001819	synonymous_variant	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.306C>T	20.37:g.57268948C>T			A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.C102	ENST00000356091.6	37	c.306	CCDS46621.1	20																																																																																			NPEPL1	-	NULL	ENSG00000215440		0.692	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0	23	0	C	NM_024663		57268948	1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	silent	47.62	11	10	SNP	1.000	T	T	57268948	C	T	57268948	2	4	58	1	0	0	0	0	0	0	0	1	10613	747	26	3		3	NPEPL1	20	57268948	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1339829	57268948	5756572	2183	16566											
NPEPL1	79716	genome.wustl.edu	37	chr20	57289000	57289000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggaagtaccacgccGcggtgctcaccaacagcgct	10	4	11	16	4	1	0	1	0	0	0	1	1	1	1	4	2	4	3	4	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:57289000G>A	ENST00000356091.6	+	10	1441	c.1153G>A	c.(1153-1155)Gcg>Acg	p.A385T	RP11-261P9.4_ENST00000530479.1_RNA|NPEPL1_ENST00000525967.1_Missense_Mutation_p.A357T|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.A337T	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	385						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GTACCACGCCGCGGTGCTCAC	0.667																																																	0													14	19	18					20																	57289000		1801	3715	5516	SO:0001583	missense	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1153G>A	20.37:g.57289000G>A	ENSP00000348395:p.Ala385Thr		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.A385T	ENST00000356091.6	37	c.1153	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.410985	0.96072	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.50001	0.76;0.76;0.76	5.67	5.67	0.87782	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.983;0.989	D	0.84747	0.0754	10	0.87932	D	0	-26.7612	16.9188	0.86158	0.0:0.0:1.0:0.0	.	385;337;357	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	T	357;337;385	ENSP00000434810:A357T;ENSP00000437112:A337T;ENSP00000348395:A385T	ENSP00000348395:A385T	A	+	1	0	NPEPL1	56722407	1.000000	0.71417	0.136000	0.22124	0.983000	0.72400	8.981000	0.93465	2.666000	0.90696	0.561000	0.74099	GCG	NPEPL1	-	pfam_Peptidase_M17_C	ENSG00000215440		0.667	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0	66	0	G	NM_024663		57289000	1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	45.59	37	31	SNP	0.994	A	A	57289000	G	A	57289000	3	1	58	1	0	0	0	0	1	0	0	0	10613	1087	38	1	1037	1	NPEPL1	20	57289000	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	20052	57289000	5736520	2184	16567											
PHACTR3	116154	genome.wustl.edu	37	chr20	58416532	58416532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtggaagtagcaaaagCgcaggactatgacaggaggg	14	6	15	6	2	0	1	0	1	0	0	0	4	0	4	0	4	3	3	0	4	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:58416532C>T	ENST00000371015.1	+	11	1996	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	PHACTR3_ENST00000395639.4_Missense_Mutation_p.A399V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A399V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A469V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A469V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A507V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A469V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	510	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A510V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GTAGCAAAAGCGCAGGACTAT	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											96	86	90					20																	58416532		2203	4300	6503	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1529C>T	20.37:g.58416532C>T	ENSP00000360054:p.Ala510Val		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.A510V	ENST00000371015.1	37	c.1529	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.204250	0.95033	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.37411	1.53;1.52;1.2;1.55;1.55;1.55;1.2	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.974;0.998	D;D;P;P	0.87578	0.998;0.997;0.488;0.849	T	0.55055	-0.8200	10	0.62326	D	0.03	-14.5181	17.8285	0.88673	0.0:1.0:0.0:0.0	.	469;399;510;507	B1AN68;Q96KR7-3;Q96KR7;B1AKX0	.;.;PHAR3_HUMAN;.	V	507;510;399;469;469;469;399	ENSP00000353002:A507V;ENSP00000360054:A510V;ENSP00000379001:A399V;ENSP00000442483:A469V;ENSP00000347866:A469V;ENSP00000378998:A469V;ENSP00000354555:A399V	ENSP00000347866:A469V	A	+	2	0	PHACTR3	57849927	1.000000	0.71417	0.684000	0.30055	0.983000	0.72400	7.710000	0.84655	2.513000	0.84729	0.655000	0.94253	GCG	PHACTR3	-	NULL	ENSG00000087495		0.443	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0	47	0	C	NM_080672		58416532	1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	missense	28.81	41	17	SNP	1.000	T	T	58416532	C	T	58416532	3	4	58	1	0	0	0	0	1	0	0	0	11850	768	27	1	1571	1	PHACTR3	20	58416532	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1127532	58416532	4608988	2185	16568											
PHACTR3	116154	genome.wustl.edu	37	chr20	58422169	58422169	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttttttataatctctaGattccacaggccatagagat	11	16	6	8	0	2	2	0	0	2	2	4	3	3	2	2	1	0	0	2	1	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:58422169G>T	ENST00000371015.1	+	13	2131		c.e13-1		PHACTR3_ENST00000395639.4_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site|PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000359926.3_Splice_Site|PHACTR3_ENST00000355648.4_Splice_Site	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ATAATCTCTAGATTCCACAGG	0.299																																																	0													75	79	78					20																	58422169		2202	4299	6501	SO:0001630	splice_region_variant	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1665-1G>T	20.37:g.58422169G>T			B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Splice_Site	SNP	-	e13-1	ENST00000371015.1	37	c.1665-1	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741019	0.69304	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5894	0.95501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHACTR3	57855564	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.597000	0.74118	2.878000	0.98634	0.650000	0.86243	.	PHACTR3	-	-	ENSG00000087495		0.299	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0	26	0	G	NM_080672	Intron	58422169	1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	splice_site	9.30	39	4	SNP	1.000	T	T	58422169	G	T	58422169	5	4	58	1	0	0	0	0	0	0	1	0	11850	956	33	3	1714	3	PHACTR3	20	58422169	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	5637	58422169	4603351	2186	16569											
TAF4	6874	genome.wustl.edu	37	chr20	60582619	60582619	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccttcaggaaaggcacaAggtaaggttgaggtgaagaa	15	8	13	5	0	1	3	1	2	0	1	1	4	1	4	1	5	1	3	1	5	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:60582619A>T	ENST00000252996.4	-	6	1957	c.1958T>A	c.(1957-1959)cTt>cAt	p.L653H	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	653	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAAAGGCACAAGGTAAGGTTG	0.473																																																	0													187	191	190					20																	60582619		2203	4300	6503	SO:0001583	missense	0			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1958T>A	20.37:g.60582619A>T	ENSP00000252996:p.Leu653His		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.L653H	ENST00000252996.4	37	c.1958	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537287	0.85812	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.59772	0.24;0.24	5.5	5.5	0.81552	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83576	0.0115	10	0.59425	D	0.04	-11.569	15.5753	0.76373	1.0:0.0:0.0:0.0	.	653	O00268	TAF4_HUMAN	H	653;517	ENSP00000252996:L653H;ENSP00000399091:L517H	ENSP00000252996:L653H	L	-	2	0	TAF4	60016014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.043000	0.93799	2.078000	0.62432	0.533000	0.62120	CTT	TAF4	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1	ENSG00000130699		0.473	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	-	0	46	0	A	NM_003185		60582619	-1	tier1	-	no_errors	ENST00000252996	ensembl	human	known	74_37	missense	40.62	19	13	SNP	1.000	T	T	60582619	A	T	60582619	3	4	58	1	0	0	0	0	1	0	0	0	15573	72	3	5	1339	5	TAF4	20	60582619	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2160450	60582619	2442901	2187	16570											
LAMA5	3911	genome.wustl.edu	37	chr20	60888272	60888272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgtccaggtaggagcCgtccgtgagccacgggtccc	5	6	16	14	4	0	1	0	1	0	0	3	2	3	2	6	4	3	1	6	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:60888272C>T	ENST00000252999.3	-	65	8893	c.8827G>A	c.(8827-8829)Ggc>Agc	p.G2943S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2943	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGTAGGAGCCGTCCGTGAGC	0.677																																																	0													14	16	15					20																	60888272		2143	4236	6379	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8827G>A	20.37:g.60888272C>T	ENSP00000252999:p.Gly2943Ser		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.G2943S	ENST00000252999.3	37	c.8827	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	c	27.9	4.875974	0.91664	.	.	ENSG00000130702	ENST00000252999	T	0.46063	0.88	4.51	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.120176	0.56097	U	0.000040	T	0.56426	0.1984	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.60949	0.881	T	0.54193	-0.8330	10	0.29301	T	0.29	.	16.8141	0.85729	0.0:1.0:0.0:0.0	.	2943	O15230	LAMA5_HUMAN	S	2943	ENSP00000252999:G2943S	ENSP00000252999:G2943S	G	-	1	0	LAMA5	60321667	0.999000	0.42202	0.946000	0.38457	0.408000	0.30992	4.622000	0.61240	2.049000	0.60858	0.550000	0.68814	GGC	LAMA5	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000130702		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	45	0	C	NM_005560		60888272	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	27.12	43	16	SNP	1.000	T	T	60888272	C	T	60888272	3	4	58	1	0	0	0	0	1	0	0	0	8637	652	23	1	2324	1	LAMA5	20	60888272	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	305653	60888272	2137248	2188	16571											
LAMA5	3911	genome.wustl.edu	37	chr20	60895716	60895716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggcccagggggctccGgagctggctctgtgggaggc	3	5	22	11	2	1	0	0	0	1	0	2	2	2	2	2	8	1	3	2	8	0	0	rs112553935		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:60895716G>A	ENST00000252999.3	-	50	6724	c.6658C>T	c.(6658-6660)Cgg>Tgg	p.R2220W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2220	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGGGGCTCCGGAGCTGGCTC	0.701																																																	0													13	16	15					20																	60895716		2161	4272	6433	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6658C>T	20.37:g.60895716G>A	ENSP00000252999:p.Arg2220Trp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R2220W	ENST00000252999.3	37	c.6658	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	-	20.5	3.992802	0.74703	.	.	ENSG00000130702	ENST00000252999	T	0.10382	2.88	4.23	4.23	0.50019	Laminin I (1);	0.605768	0.17399	N	0.175637	T	0.23370	0.0565	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	T	0.00819	-1.1553	10	0.37606	T	0.19	.	15.3717	0.74570	0.0:0.0:1.0:0.0	.	2220	O15230	LAMA5_HUMAN	W	2220	ENSP00000252999:R2220W	ENSP00000252999:R2220W	R	-	1	2	LAMA5	60329111	0.996000	0.38824	0.999000	0.59377	0.440000	0.31957	4.326000	0.59241	2.354000	0.79902	0.537000	0.68136	CGG	LAMA5	-	pfam_Laminin_I	ENSG00000130702		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2		0	38	0	G	NM_005560		60895716	-1			no_errors	ENST00000252999	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.996	A	A	60895716	G	A	60895716	3	1	58	1	0	0	0	0	1	0	0	0	8637	1115	39	1	4553	1	LAMA5	20	60895716	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7444	60895716	2129804	2189	16572											
RTEL1	51750	genome.wustl.edu	37	chr20	62319098	62319100	+	In_Frame_Del	DEL	TCC	TCC	-																															gcggcacgctggccccggtgTcctcctttgctctggagatg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:62319098_62319100delTCC	ENST00000360203.5	+	17	1781_1783	c.1456_1458delTCC	c.(1456-1458)tccdel	p.S487del	RTEL1_ENST00000318100.4_In_Frame_Del_p.S487del|RTEL1_ENST00000370018.3_In_Frame_Del_p.S487del|RTEL1_ENST00000508582.2_In_Frame_Del_p.S511del|RTEL1_ENST00000370003.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.S487del					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGCCCCGGTGTCCTCCTTTGCTC	0.67																																																	0																																										SO:0001651	inframe_deletion	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"chromosome 20 open reading frame 41"	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1456_1458delTCC	20.37:g.62319101_62319103delTCC	ENSP00000353332:p.Ser487del			In_Frame_Del	DEL	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S487in_frame_del	ENST00000360203.5	37	c.1456_1458		20																																																																																			RTEL1	-	superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000258366		0.67	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1		0	106	0	TCC	NM_032957		62319100	1	tier1		no_errors	ENST00000318100	ensembl	human	known	74_37	in_frame_del	24.69	61	20	DEL	0.959:0.995:0.980	-	-	62319100	TCC	-	62319098	7	5	58	1	0	1	0	1	0	0	0	0	13765	1667	58	0	1518	0	RTEL1	20	62319098	In_Frame_Del	DEL	TCC	TCGA-L5-A4OI-01A-11D-A27G-09	1423382	62319098	706422	2190	16573											
NCAM2	4685	genome.wustl.edu	37	chr21	22881230	22881230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgggagttgctgcactGctgctaattcttgtggtaac	6	13	13	9	0	1	0	0	0	1	0	1	1	1	1	1	3	5	6	1	3	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:22881230G>A	ENST00000400546.1	+	16	2385	c.2136G>A	c.(2134-2136)ctG>ctA	p.L712L	NCAM2_ENST00000284894.7_Silent_p.L570L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	712					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTGCTGCACTGCTGCTAATTC	0.388																																																	0													94	89	91					21																	22881230		1970	4159	6129	SO:0001819	synonymous_variant	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2136G>A	21.37:g.22881230G>A			A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.L712	ENST00000400546.1	37	c.2136	CCDS42910.1	21																																																																																			NCAM2	-	NULL	ENSG00000154654		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	66	0	G	NM_004540		22881230	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	silent	27.42	45	17	SNP	0.176	A	A	22881230	G	A	22881230	2	1	58	1	0	0	0	0	0	0	0	1	10242	1306	46	3		3	NCAM2	21	22881230	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		22881230	25248665	2191	16574											
KRTAP22-2	100288287	genome.wustl.edu	37	chr21	31962612	31962612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggagcacggaaagttgcAggcatatccagagttaccat	14	8	11	8	1	0	1	0	0	0	1	1	3	1	3	2	3	3	5	2	3	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:31962612A>G	ENST00000382830.2	-	1	104	c.82T>C	c.(82-84)Tgc>Cgc	p.C28R	KRTAP6-3_ENST00000391624.1_5'Flank	NM_001164434.1	NP_001157906.1	Q3LI68	KR222_HUMAN	keratin associated protein 22-2	28						intermediate filament (GO:0005882)											GGAAAGTTGCAGGCATATCCA	0.428																																																	0													153	133	139					21																	31962612		692	1591	2283	SO:0001583	missense	0			AB096950	CCDS46641.1	21q22.11	2009-11-23			ENSG00000206106	ENSG00000206106		"Keratin associated proteins"	37091	protein-coding gene	gene with protein product							Standard	NM_001164434		Approved	KAP22.2	uc021wih.1	Q3LI68	OTTHUMG00000065630	ENST00000382830.2:c.82T>C	21.37:g.31962612A>G	ENSP00000372281:p.Cys28Arg			Missense_Mutation	SNP	NULL	p.C28R	ENST00000382830.2	37	c.82	CCDS46641.1	21	.	.	.	.	.	.	.	.	.	.	A	9.236	1.037017	0.19669	.	.	ENSG00000206106	ENST00000382830	.	.	.	4.31	-1.32	0.09201	.	0.456886	0.15966	U	0.236027	T	0.27063	0.0663	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28170	-1.0052	6	0.87932	D	0	.	0.5579	0.00674	0.4525:0.1767:0.1998:0.171	.	.	.	.	R	28	.	ENSP00000372281:C28R	C	-	1	0	KRTAP22-2	30884483	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.084000	0.11268	-0.008000	0.14320	-0.464000	0.05259	TGC	KRTAP22-2	-	NULL	ENSG00000206106		0.428	KRTAP22-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP22-2	HGNC	protein_coding	OTTHUMT00000140633.2	-	0	42	0	A	XM_002343740		31962612	-1	tier1	-	no_errors	ENST00000382830	ensembl	human	known	74_37	missense	35.59	38	21	SNP	0.000	G	G	31962612	A	G	31962612	3	3	58	1	0	0	0	0	1	0	0	0	8568	188	7	4	59	4	KRTAP22-2	21	31962612	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	9081382	31962612	16167283	2192	16575											
TIAM1	7074	genome.wustl.edu	37	chr21	32508318	32508318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggttcagccagatcacGgtagtgtgcaaaagcaggtc	10	7	15	9	2	2	1	2	0	0	1	3	1	2	1	1	4	3	4	1	4	3	2	rs141765629	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:32508318G>A	ENST00000286827.3	-	24	4287	c.3816C>T	c.(3814-3816)acC>acT	p.T1272T	TIAM1_ENST00000541036.1_Silent_p.T1212T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1272	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCAGATCACGGTAGTGTGCA	0.507																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	87	83	85		3816	-7.8	1	21	dbSNP_134	85	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	TIAM1	NM_003253.2		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		1272/1592	32508318	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3816C>T	21.37:g.32508318G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.T1272	ENST00000286827.3	37	c.3816	CCDS13609.1	21																																																																																			TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.507	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1		0	57	0	G	NM_003253		32508318	-1			no_errors	ENST00000286827	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.565	A	A	32508318	G	A	32508318	2	1	58	1	0	0	0	0	0	0	0	1	15937	1103	39	1		1	TIAM1	21	32508318	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	545706	32508318	15621577	2193	16576											
MRAP	56246	genome.wustl.edu	37	chr21	33684112	33684112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacctcacaggctcaggcGagctcagtggagccagggag	10	4	15	12	1	3	0	3	0	0	0	3	3	3	2	2	4	3	3	2	4	1	0	rs374356072		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:33684112G>A	ENST00000399784.2	+	5	511	c.324G>A	c.(322-324)gcG>gcA	p.A108A	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000303645.5_Silent_p.A108A|MRAP_ENST00000339944.4_Intron|MRAP_ENST00000399786.3_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	108					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						AGGCTCAGGCGAGCTCAGTGG	0.647																																																	0								G	,,	0,4406		0,0,2203	65	55	58		,324,	-4.4	0	21		58	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,coding-synonymous,intron	URB1,MRAP	NM_014825.2,NM_178817.3,NM_206898.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,108/173,	33684112	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"chromosome 21 open reading frame 61"	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.324G>A	21.37:g.33684112G>A			Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	NULL	p.A108	ENST00000399784.2	37	c.324	CCDS13613.1	21																																																																																			MRAP	-	NULL	ENSG00000170262		0.647	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRAP	HGNC	protein_coding	OTTHUMT00000193092.1	-	0	34	0	G	NM_178817		33684112	1	tier1	-	no_errors	ENST00000303645	ensembl	human	known	74_37	silent	34.38	21	11	SNP	0.000	A	A	33684112	G	A	33684112	2	1	58	1	0	0	0	0	0	0	0	1	9791	1045	37	1		1	MRAP	21	33684112	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1175794	33684112	14445783	2194	16577											
SYNJ1	8867	genome.wustl.edu	37	chr21	34018914	34018914	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatagtcatcaacatcaccTaaggaaaagcaggcttgatc	15	9	7	10	0	3	1	3	1	0	0	4	2	3	2	1	2	2	2	1	2	6	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:34018914T>C	ENST00000322229.7	-	23	3037		c.e23-2		SYNJ1_ENST00000382491.3_Splice_Site|SYNJ1_ENST00000382499.2_Splice_Site|SYNJ1_ENST00000433931.2_Splice_Site|SYNJ1_ENST00000357345.3_Splice_Site			O43426	SYNJ1_HUMAN	synaptojanin 1						cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAACATCACCTAAGGAAAAGC	0.403																																																	0													61	62	61					21																	34018914		2203	4300	6503	SO:0001630	splice_region_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3038-2A>G	21.37:g.34018914T>C			O43425|O94984|Q4KMR1	Splice_Site	SNP	-	e24-2	ENST00000322229.7	37	c.3155-2	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408166	0.62399	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	.	.	.	5.52	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.949	0.52944	0.1301:0.0:0.0:0.8699	.	.	.	.	.	-1	.	.	.	-	.	.	SYNJ1	32940785	1.000000	0.71417	0.687000	0.30102	0.947000	0.59692	6.857000	0.75455	0.898000	0.36418	0.533000	0.62120	.	SYNJ1	-	-	ENSG00000159082		0.403	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0	17	0	T		Intron	34018914	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	splice_site	52.78	17	19	SNP	0.978	C	C	34018914	T	C	34018914	5	2	58	1	0	0	0	0	0	0	1	0	15499	1536	53	4	1746	4	SYNJ1	21	34018914	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	334802	34018914	14110981	2195	16578											
SYNJ1	8867	genome.wustl.edu	37	chr21	34029062	34029062	+	Frame_Shift_Del	DEL	A	A	-																															tcatcaatcaaggcatcatcAaaaaaattattttctggtaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:34029062delA	ENST00000322229.7	-	20	2729	c.2730delT	c.(2728-2730)tttfs	p.F910fs	SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.F905fs|SYNJ1_ENST00000382499.2_Frame_Shift_Del_p.F949fs|SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.F949fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.F910fs			O43426	SYNJ1_HUMAN	synaptojanin 1	910	Pro-rich.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGGCATCATCAAAAAAATTAT	0.338																																																	0													55	57	56					21																	34029062		2203	4300	6503	SO:0001589	frameshift_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2730delT	21.37:g.34029062delA	ENSP00000322234:p.Phe910fs		O43425|O94984|Q4KMR1	Frame_Shift_Del	DEL	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.F949fs	ENST00000322229.7	37	c.2847	CCDS54484.1	21																																																																																			SYNJ1	-	pfam_DUF1866,pfscan_RRM_dom	ENSG00000159082		0.338	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding			0	35	0	A			34029062	-1	tier1		no_errors	ENST00000433931	ensembl	human	known	74_37	frame_shift_del	34.69	32	17	DEL	0.999	-	-	34029062	A	-	34029062	7	5	58	1	0	1	0	1	0	0	0	0	15499	127	5	0	2064	0	SYNJ1	21	34029062	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	10148	34029062	14100833	2196	16579											
MORC3	23515	genome.wustl.edu	37	chr21	37711111	37711111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatcaaaagccagccttgCtgcaattctggaacattctc	13	10	7	11	0	3	1	1	0	2	1	4	2	3	2	2	1	5	2	2	1	5	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:37711111C>T	ENST00000400485.1	+	5	576	c.500C>T	c.(499-501)gCt>gTt	p.A167V	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	167					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GCCAGCCTTGCTGCAATTCTG	0.363																																																	0													120	108	112					21																	37711111		1868	4101	5969	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.500C>T	21.37:g.37711111C>T	ENSP00000383333:p.Ala167Val		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.A167V	ENST00000400485.1	37	c.500	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125556	0.56721	.	.	ENSG00000159256	ENST00000400485	T	0.14516	2.5	5.74	3.73	0.42828	ATPase-like, ATP-binding domain (1);	0.515837	0.21975	N	0.066388	T	0.08758	0.0217	L	0.27053	0.805	0.28187	N	0.927927	B	0.17852	0.024	B	0.20184	0.028	T	0.15122	-1.0448	9	.	.	.	-18.6855	7.7452	0.28864	0.3322:0.3827:0.2851:0.0	.	167	Q14149	MORC3_HUMAN	V	167	ENSP00000383333:A167V	.	A	+	2	0	MORC3	36632981	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	1.479000	0.35453	2.722000	0.93159	0.591000	0.81541	GCT	MORC3	-	superfamily_HATPase_ATP-bd	ENSG00000159256		0.363	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	-	0	45	0	C	NM_015358		37711111	1	tier1	-	no_errors	ENST00000400485	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.893	T	T	37711111	C	T	37711111	3	4	58	1	0	0	0	0	1	0	0	0	9741	797	28	3	518	3	MORC3	21	37711111	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3682049	37711111	10418784	2197	16580											
SIM2	6493	genome.wustl.edu	37	chr21	38117396	38117396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatcctccagagccacCggcgaacactgctaggcaca	14	5	8	14	2	0	1	0	0	0	1	2	2	2	1	4	2	3	2	4	2	5	2	rs144394618		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:38117396C>A	ENST00000290399.6	+	10	2148	c.1535C>A	c.(1534-1536)cCg>cAg	p.P512Q	SIM2_ENST00000430056.3_Missense_Mutation_p.P512Q	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	512	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCAGAGCCACCGGCGAACACT	0.622																																																	0													30	27	28					21																	38117396		2203	4300	6503	SO:0001583	missense	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1535C>A	21.37:g.38117396C>A	ENSP00000290399:p.Pro512Gln		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.P512Q	ENST00000290399.6	37	c.1535	CCDS13646.1	21	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347561	0.41599	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.29917	1.55;1.55	4.74	4.74	0.60224	Single-minded, C-terminal (2);	7739.340000	0.00166	N	0.000001	T	0.59445	0.2194	L	0.56769	1.78	0.27793	N	0.942755	D;D	0.76494	0.999;0.987	D;P	0.72075	0.976;0.907	T	0.58549	-0.7617	10	0.33940	T	0.23	.	18.1411	0.89639	0.0:1.0:0.0:0.0	.	512;512	Q14190;Q14190-2	SIM2_HUMAN;.	Q	512	ENSP00000290399:P512Q;ENSP00000404176:P512Q	ENSP00000290399:P512Q	P	+	2	0	SIM2	37039266	0.325000	0.24660	0.087000	0.20705	0.042000	0.13812	5.130000	0.64745	2.337000	0.79520	0.558000	0.71614	CCG	SIM2	-	pfam_SIM_C	ENSG00000159263		0.622	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	-	0	42	0	C	NM_009586		38117396	1	tier1	-	no_errors	ENST00000290399	ensembl	human	known	74_37	missense	45.24	23	19	SNP	0.636	A	A	38117396	C	A	38117396	3	1	58	1	0	0	0	0	1	0	0	0	14369	652	23	2	1573	2	SIM2	21	38117396	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	406285	38117396	10012499	2198	16581											
TTC3	7267	genome.wustl.edu	37	chr21	38512963	38512963	+	Frame_Shift_Del	DEL	A	A	-																															gaattggaaaagtatatttgAaaaaaaacaggttagtagaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:38512963delA	ENST00000399017.2	+	20	4509	c.1762delA	c.(1762-1764)aaafs	p.K589fs	TTC3_ENST00000355666.1_Frame_Shift_Del_p.K589fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.K589fs|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Frame_Shift_Del_p.K279fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	589					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGTATATTTGAAAAAAAACAG	0.348																																					Ovarian(38;194 1649 35661)												0													79	79	79					21																	38512963		2203	4300	6503	SO:0001589	frameshift_variant	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1762delA	21.37:g.38512963delA	ENSP00000381981:p.Lys589fs		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.N590fs	ENST00000399017.2	37	c.1762	CCDS13651.1	21																																																																																			TTC3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000182670		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1		0	49	0	A			38512963	1	tier1		no_errors	ENST00000354749	ensembl	human	known	74_37	frame_shift_del	30.77	54	24	DEL	1.000	-	-	38512963	A	-	38512963	7	5	58	1	0	1	0	1	0	0	0	0	16746	247	9	0	1836	0	TTC3	21	38512963	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	395567	38512963	9616932	2199	16582											
DYRK1A	1859	genome.wustl.edu	37	chr21	38877824	38877824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaaatacaagtaatagtgTatctacaagccccgccatgg	15	9	7	10	1	1	0	0	0	1	0	1	0	1	0	3	1	4	2	3	1	9	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:38877824T>C	ENST00000398960.2	+	9	1553	c.1478T>C	c.(1477-1479)gTa>gCa	p.V493A	DYRK1A_ENST00000339659.4_Missense_Mutation_p.V484A|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V493A|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V493A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.V265A|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V493A|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V493A	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	493					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTAATAGTGTATCTACAAGC	0.468																																					Melanoma(114;464 1602 31203 43785 45765)												0													107	110	109					21																	38877824		2203	4300	6503	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1478T>C	21.37:g.38877824T>C	ENSP00000381932:p.Val493Ala		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V493A	ENST00000398960.2	37	c.1478	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434619	0.25813	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.054738	0.64402	D	0.000001	T	0.16300	0.0392	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.25809	0.058;0.135;0.0;0.001;0.058	B;B;B;B;B	0.21917	0.037;0.037;0.003;0.007;0.037	T	0.11179	-1.0598	10	0.02654	T	1	.	11.3004	0.49302	0.1359:0.0:0.0:0.8641	.	493;493;493;484;493	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	A	493;484;493;493;493;493;265	ENSP00000342690:V493A;ENSP00000340373:V484A;ENSP00000319032:V493A;ENSP00000416089:V493A;ENSP00000381932:V493A;ENSP00000381929:V493A;ENSP00000407854:V265A	ENSP00000319032:V493A	V	+	2	0	DYRK1A	37799694	1.000000	0.71417	0.685000	0.30070	0.618000	0.37518	7.977000	0.88081	2.228000	0.72767	0.528000	0.53228	GTA	DYRK1A	-	superfamily_Kinase-like_dom	ENSG00000157540		0.468	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1		0	37	0	T	NM_001396		38877824	1			no_errors	ENST00000398960	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.996	C	C	38877824	T	C	38877824	3	2	58	1	0	0	0	0	1	0	0	0	4868	1638	57	4	1512	4	DYRK1A	21	38877824	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	364861	38877824	9252071	2200	16583											
ERG	2078	genome.wustl.edu	37	chr21	39947607	39947607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatgagctgctgggtcCgggacagtctgaatcatgtc	8	12	13	8	1	2	3	1	3	1	0	4	4	3	4	1	2	2	2	1	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:39947607C>T	ENST00000417133.2	-	3	203	c.18G>A	c.(16-18)ccG>ccA	p.P6P	ERG_ENST00000398919.2_Silent_p.P6P|ERG_ENST00000442448.1_Silent_p.P6P|ERG_ENST00000398910.1_Silent_p.P6P|ERG_ENST00000398911.1_Silent_p.P6P|ERG_ENST00000398897.1_5'UTR|ERG_ENST00000485493.1_5'UTR	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTGCTGGGTCCGGGACAGTCT	0.488			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0													108	89	95					21																	39947607		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.18G>A	21.37:g.39947607C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P6	ENST00000417133.2	37	c.18	CCDS46648.1	21																																																																																			ERG	-	NULL	ENSG00000157554		0.488	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	-	0	43	0	C	NM_182918		39947607	-1	tier1	-	no_errors	ENST00000398919	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.470	T	T	39947607	C	T	39947607	2	4	58	1	0	0	0	0	0	0	0	1	5238	639	23	1		1	ERG	21	39947607	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1069783	39947607	8182288	2201	16584											
UMODL1	89766	genome.wustl.edu	37	chr21	43547905	43547905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgcactgcaaactccgCgtctgcatggaatcccccgg	8	8	9	16	3	1	0	0	0	1	0	3	1	3	1	4	2	5	3	4	2	3	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:43547905C>T	ENST00000408910.2	+	20	3654	c.3654C>T	c.(3652-3654)cgC>cgT	p.R1218R	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.R1274R|UMODL1_ENST00000400424.2_Silent_p.R1146R|UMODL1_ENST00000408989.2_Silent_p.R1346R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1218	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAACTCCGCGTCTGCATGG	0.473																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													120	118	118					21																	43547905		1990	4169	6159	SO:0001819	synonymous_variant	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3654C>T	21.37:g.43547905C>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.R1346	ENST00000408910.2	37	c.4038	CCDS42936.1	21																																																																																			UMODL1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	ENSG00000177398		0.473	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	-	0	107	0	C			43547905	1	tier1	-	no_errors	ENST00000408989	ensembl	human	known	74_37	silent	37.21	54	32	SNP	0.000	T	T	43547905	C	T	43547905	2	4	58	1	0	0	0	0	0	0	0	1	17029	755	27	1		1	UMODL1	21	43547905	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3600298	43547905	4581990	2202	16585											
ABCG1	9619	genome.wustl.edu	37	chr21	43691299	43691299	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctggctggatacaggTgagcagccctgcccagggcg	8	6	14	13	1	0	1	0	1	0	0	1	2	1	2	3	4	4	2	3	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:43691299T>C	ENST00000361802.2	+	3	549		c.e3+2		ABCG1_ENST00000398437.1_Splice_Site|ABCG1_ENST00000340588.4_Splice_Site|ABCG1_ENST00000347800.2_Splice_Site|ABCG1_ENST00000462050.1_Splice_Site|ABCG1_ENST00000398457.2_Splice_Site|ABCG1_ENST00000398449.3_Splice_Site|ABCG1_ENST00000343687.3_Splice_Site	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1						amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGGATACAGGTGAGCAGCCCT	0.597																																																	0													71	71	71					21																	43691299		2203	4300	6503	SO:0001630	splice_region_variant	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"ATP binding cassette transporters / subfamily G"	73	protein-coding gene	gene with protein product	"ATP-binding cassette transporter 8"	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.404+2T>C	21.37:g.43691299T>C			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Splice_Site	SNP	-	e4+2	ENST00000361802.2	37	c.842+2	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766687	0.69878	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6615	0.68876	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCG1	42564368	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	7.553000	0.82203	1.998000	0.58463	0.533000	0.62120	.	ABCG1	-	-	ENSG00000160179		0.597	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	-	0	40	0	T	NM_207174	Intron	43691299	1	tier1	-	no_errors	ENST00000398437	ensembl	human	known	74_37	splice_site	45.45	24	20	SNP	1.000	C	C	43691299	T	C	43691299	5	2	58	1	0	0	0	0	0	0	1	0	68	1710	59	4	584	4	ABCG1	21	43691299	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	143394	43691299	4438596	2203	16586											
NDUFV3	4731	genome.wustl.edu	37	chr21	44323366	44323366	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtctaaaaacttatctTcacccagttcttacccgcca	12	13	3	13	1	4	0	1	0	3	0	4	0	4	0	3	0	2	1	3	0	6	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:44323366T>C	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.S82P	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AAACTTATCTTCACCCAGTTC	0.502																																																	0													71	75	74					21																	44323366		2203	4300	6503	SO:0001627	intron_variant	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7719	protein-coding gene	gene with protein product	"complex I 10kDa subunit"	602184	"NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5608T>C	21.37:g.44323366T>C			A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.S82P	ENST00000340344.4	37	c.244	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	T	9.055	0.993024	0.19043	.	.	ENSG00000160194	ENST00000354250	T	0.45276	0.9	5.84	-4.76	0.03229	.	1.060770	0.07304	N	0.874520	T	0.28665	0.0710	L	0.39633	1.23	0.21652	N	0.999608	B	0.06786	0.001	B	0.11329	0.006	T	0.26744	-1.0094	10	0.22706	T	0.39	-0.5143	7.6353	0.28264	0.0:0.4986:0.2589:0.2425	.	82	P56181-2	.	P	82	ENSP00000346196:S82P	ENSP00000346196:S82P	S	+	1	0	NDUFV3	43196435	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.507000	0.06352	-1.086000	0.03084	0.533000	0.62120	TCA	NDUFV3	-	NULL	ENSG00000160194		0.502	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	-	0	83	0	T			44323366	1	tier1	-	no_errors	ENST00000354250	ensembl	human	known	74_37	missense	18.42	62	14	SNP	0.005	C	C	44323366	T	C	44323366	1	2	58	0	1	0	0	0	0	0	0	0	10340	1783	62	4		4	NDUFV3	21	44323366	Intron	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	632067	44323366	3806529	2204	16587											
U2AF1	7307	genome.wustl.edu	37	chr21	44515596	44515596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcccaggttgtcacagacGttcatctcctctacttcccc	6	13	5	17	1	5	1	2	0	3	1	8	1	6	1	4	1	1	2	4	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:44515596G>A	ENST00000291552.4	-	5	392	c.300C>T	c.(298-300)aaC>aaT	p.N100N	U2AF1_ENST00000459639.1_Silent_p.N27N|U2AF1_ENST00000398137.1_Silent_p.N27N|U2AF1_ENST00000380276.2_Silent_p.N100N|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	100	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGTCACAGACGTTCATCTCCT	0.537			Mis		"CLL, MDS"																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													164	143	150					21																	44515596		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.300C>T	21.37:g.44515596G>A			Q701P4|Q71RF1	Silent	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.N100	ENST00000291552.4	37	c.300	CCDS13694.1	21																																																																																			U2AF1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000160201		0.537	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	-	0	53	0	G	NM_006758		44515596	-1	tier1	-	no_errors	ENST00000291552	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.993	A	A	44515596	G	A	44515596	2	1	58	1	0	0	0	0	0	0	0	1	16870	1136	40	1		1	U2AF1	21	44515596	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	192230	44515596	3614299	2205	16588											
DNMT3L	29947	genome.wustl.edu	37	chr21	45666415	45666417	+	In_Frame_Del	DEL	TTC	TTC	-																															ttctgggccagcagggacaaTtcttcttccgaaaccagagc																								rs145889034		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:45666415_45666417delTTC	ENST00000418993.1	-	12	1507_1509	c.1024_1026delGAA	c.(1024-1026)gaadel	p.E342del	DNMT3L_ENST00000270172.3_In_Frame_Del_p.E343del	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	342					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCAGGGACAATTCTTCTTCCGAA	0.601																																																	0									,	2,4262		0,2,2130					,	-8.3	0		dbSNP_134	38	2,8250		0,2,4124	no	coding,coding	DNMT3L	NM_175867.1,NM_013369.2	,	0,4,6254	A1A1,A1R,RR		0.0242,0.0469,0.032	,	,		4,12512				SO:0001651	inframe_deletion	0			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1024_1026delGAA	21.37:g.45666421_45666423delTTC	ENSP00000412862:p.Glu342del		E9PB42|Q9BUJ4	In_Frame_Del	DEL	superfamily_Znf_FYVE_PHD	p.E343in_frame_del	ENST00000418993.1	37	c.1029_1027	CCDS46650.1	21																																																																																			DNMT3L	-	NULL	ENSG00000142182		0.601	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1		0	57	0	TTC	NM_013369		45666417	-1	tier1		no_errors	ENST00000270172	ensembl	human	known	74_37	in_frame_del	29.85	47	20	DEL	0.000:0.000:0.001	-	-	45666417	TTC	-	45666415	7	5	58	1	0	1	0	1	0	0	0	0	4692	1490	52	0	138	0	DNMT3L	21	45666415	In_Frame_Del	DEL	TTC	TCGA-L5-A4OI-01A-11D-A27G-09	1150819	45666415	2463480	2206	16589											
PFKL	5211	genome.wustl.edu	37	chr21	45742906	45742906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatctatggtattcacGccctgctggtggtcggtggg	4	12	14	11	3	2	0	1	0	1	0	4	0	3	0	2	5	1	3	2	5	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:45742906G>A	ENST00000349048.4	+	15	1526	c.1471G>A	c.(1471-1473)Gcc>Acc	p.A491T	PFKL_ENST00000403390.1_Missense_Mutation_p.A538T	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	491	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGGTATTCACGCCCTGCTGGT	0.617																																																	0													153	116	128					21																	45742906		2203	4299	6502	SO:0001583	missense	0				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1471G>A	21.37:g.45742906G>A	ENSP00000269848:p.Ala491Thr		Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.A538T	ENST00000349048.4	37	c.1612	CCDS33582.1	21	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263931	0.39995	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.79554	-1.28;-1.28	3.54	3.54	0.40534	Phosphofructokinase domain (2);	0.234431	0.34932	U	0.003575	D	0.88603	0.6481	M	0.90650	3.135	0.41726	D	0.989537	D;B	0.60160	0.987;0.331	P;B	0.56700	0.804;0.177	D	0.91287	0.5056	10	0.87932	D	0	-28.1429	12.9604	0.58455	0.0:0.0:1.0:0.0	.	491;538	P17858;P17858-2	K6PL_HUMAN;.	T	491;284;538	ENSP00000269848:A491T;ENSP00000384038:A538T	ENSP00000269848:A491T	A	+	1	0	PFKL	44567334	0.941000	0.31946	0.982000	0.44146	0.081000	0.17604	4.277000	0.58939	1.693000	0.51124	0.491000	0.48974	GCC	PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000141959		0.617	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	-	0	56	0	G			45742906	1	tier1	-	no_errors	ENST00000403390	ensembl	human	known	74_37	missense	26.87	49	18	SNP	0.996	A	A	45742906	G	A	45742906	3	1	58	1	0	0	0	0	1	0	0	0	11803	1087	38	1	1529	1	PFKL	21	45742906	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	76491	45742906	2386989	2207	16590											
C21orf29	54084	genome.wustl.edu	37	chr21	46131375	46131375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcccaaccctgcgtgcCgtggccgggggccgccaggg	3	4	18	16	4	0	0	0	0	0	0	1	0	1	0	6	5	3	1	6	5	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:46131375C>T	ENST00000323084.4	-	1	120	c.55G>A	c.(55-57)Ggc>Agc	p.G19S		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	19					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCTGCGTGCCGTGGCCGGGG	0.672																																																	0													20	20	20					21																	46131375		2200	4297	6497	SO:0001583	missense	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.55G>A	21.37:g.46131375C>T	ENSP00000321987:p.Gly19Ser			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.G19S	ENST00000323084.4	37	c.55	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.214183	0.00289	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.42131	0.98	3.76	-0.573	0.11742	.	1.091010	0.07191	N	0.855745	T	0.16896	0.0406	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26292	-1.0107	10	0.10377	T	0.69	.	6.3162	0.21192	0.0:0.4322:0.0:0.5678	.	19	Q8WU66	TSEAR_HUMAN	S	19	ENSP00000321987:G19S	ENSP00000321987:G19S	G	-	1	0	TSPEAR	44955803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.261000	0.08694	-0.019000	0.14055	-0.252000	0.11476	GGC	TSPEAR	-	NULL	ENSG00000175894		0.672	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0	66	0	C	NM_144991		46131375	-1	tier1	-	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.000	T	T	46131375	C	T	46131375	3	4	58	1	0	0	0	0	1	0	0	0	2131	652	23	1	2002	1	C21orf29	21	46131375	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	388469	46131375	1998520	2208	16591											
SLC19A1	6573	genome.wustl.edu	37	chr21	46951462	46951462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcgcagctgcggccGccgcaggctgtcccccagct	5	4	13	19	4	0	0	0	0	0	0	1	0	1	0	5	3	3	5	5	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:46951462G>A	ENST00000311124.4	-	3	942	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	SLC19A1_ENST00000567670.1_Missense_Mutation_p.R264W|SLC19A1_ENST00000380010.4_Missense_Mutation_p.R264W|SLC19A1_ENST00000485649.2_Missense_Mutation_p.R224W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	264					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	AGCTGCGGCCGCCGCAGGCTG	0.687																																																	0													31	42	39					21																	46951462		2175	4263	6438	SO:0001583	missense	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.790C>T	21.37:g.46951462G>A	ENSP00000308895:p.Arg264Trp		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.R264W	ENST00000311124.4	37	c.790	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603966	0.46423	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.81739	-1.53;-1.53;-1.53	3.98	3.98	0.46160	Major facilitator superfamily domain, general substrate transporter (1);	1.468860	0.05376	U	0.536289	T	0.80502	0.4635	N	0.08118	0	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.68765	0.96;0.917;0.862;0.917	T	0.72510	-0.4271	10	0.66056	D	0.02	-3.3247	10.8963	0.47025	0.0:0.0:0.8113:0.1887	.	224;286;264;264	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	W	11;264;264;224	ENSP00000308895:R264W;ENSP00000369347:R264W;ENSP00000441772:R224W	ENSP00000308895:R264W	R	-	1	2	SLC19A1	45775890	0.001000	0.12720	0.516000	0.27786	0.498000	0.33706	1.020000	0.30027	2.191000	0.70037	0.306000	0.20318	CGG	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	-	0	102	0	G			46951462	-1	tier1	-	no_errors	ENST00000311124	ensembl	human	known	74_37	missense	41.03	45	32	SNP	0.002	A	A	46951462	G	A	46951462	3	1	58	1	0	0	0	0	1	0	0	0	14473	1086	38	1	1001	1	SLC19A1	21	46951462	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	820087	46951462	1178433	2209	16592											
COL6A2	1292	genome.wustl.edu	37	chr21	47531407	47531407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgctccagggcacctGctccgtgctcctgctctggg	5	9	12	15	1	1	1	0	0	1	1	4	1	4	1	4	2	4	5	4	2	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47531407G>T	ENST00000300527.4	+	2	121	c.17G>T	c.(16-18)tGc>tTc	p.C6F	COL6A2_ENST00000409416.1_Missense_Mutation_p.C6F|COL6A2_ENST00000357838.4_Missense_Mutation_p.C6F|COL6A2_ENST00000397763.1_Missense_Mutation_p.C6F|COL6A2_ENST00000310645.5_Missense_Mutation_p.C6F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	6					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGCACCTGCTCCGTGCTC	0.652																																																	0													34	34	34					21																	47531407		2203	4300	6503	SO:0001583	missense	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.17G>T	21.37:g.47531407G>T	ENSP00000300527:p.Cys6Phe		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.C6F	ENST00000300527.4	37	c.17	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	4.378	0.069679	0.08436	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	D;D;D;T;D;D	0.89552	-2.44;-2.47;-2.53;-1.02;-2.53;-2.47	3.57	-1.84	0.07809	.	0.843606	0.10729	N	0.640888	T	0.70945	0.3282	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.56836	-0.7913	10	0.21540	T	0.41	-2.5219	3.4266	0.07413	0.2324:0.0:0.2729:0.4947	.	6;6;6	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	F	6	ENSP00000300527:C6F;ENSP00000350497:C6F;ENSP00000312529:C6F;ENSP00000390418:C6F;ENSP00000387115:C6F;ENSP00000380870:C6F	ENSP00000300527:C6F	C	+	2	0	COL6A2	46355835	0.004000	0.15560	0.000000	0.03702	0.010000	0.07245	0.492000	0.22435	-0.125000	0.11703	0.655000	0.94253	TGC	COL6A2	-	NULL	ENSG00000142173		0.652	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	61	0	G			47531407	1	tier1	-	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	T	T	47531407	G	T	47531407	3	4	58	1	0	0	0	0	1	0	0	0	3707	1319	46	3	19	3	COL6A2	21	47531407	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	579945	47531407	598488	2210	16593											
COL6A2	1292	genome.wustl.edu	37	chr21	47532223	47532223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagatccggcaggaccGcagcaagggcaccgtccact	10	3	14	14	3	0	1	0	0	0	1	2	3	2	3	4	4	2	5	4	4	1	0	rs143891262	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47532223G>A	ENST00000300527.4	+	3	550	c.446G>A	c.(445-447)cGc>cAc	p.R149H	COL6A2_ENST00000409416.1_Missense_Mutation_p.R149H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R149H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R149H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R149H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	149	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGGCAGGACCGCAGCAAGGGC	0.692																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4400		0,0,2200	22	23	23		446,446,446	-8.2	0	21	dbSNP_134	23	2,8596		0,2,4297	yes	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	29,29,29	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	149/1020,149/919,149/829	47532223	2,12996	2200	4299	6499	SO:0001583	missense	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.446G>A	21.37:g.47532223G>A	ENSP00000300527:p.Arg149His		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R149H	ENST00000300527.4	37	c.446	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	3.379	-0.126825	0.06795	0.0	2.33E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	4.12	-8.24	0.01029	von Willebrand factor, type A (3);	2.662220	0.01323	N	0.010999	T	0.65207	0.2669	N	0.14661	0.345	0.09310	N	1	P;P;P	0.37466	0.476;0.596;0.459	B;B;B	0.29716	0.106;0.02;0.019	T	0.64626	-0.6363	10	0.44086	T	0.13	2.1635	3.2572	0.06836	0.1545:0.1872:0.4906:0.1676	.	149;149;149	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	149	ENSP00000300527:R149H;ENSP00000350497:R149H;ENSP00000312529:R149H;ENSP00000390418:R149H;ENSP00000387115:R149H;ENSP00000380870:R149H	ENSP00000300527:R149H	R	+	2	0	COL6A2	46356651	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.920000	0.04013	-2.001000	0.00964	0.467000	0.42956	CGC	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.692	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	19	0	G			47532223	1	tier1	rs143891262	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.000	A	A	47532223	G	A	47532223	3	1	58	1	0	0	0	0	1	0	0	0	3707	1087	38	1	452	1	COL6A2	21	47532223	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	816	47532223	597672	2211	16594											
C21orf57	54059	genome.wustl.edu	37	chr21	47707039	47707040	+	Splice_Site	INS	-	-	AA																															tcttttccatttcatgaggtINSaaaaaaaaaatgttcctctt																								rs71318058|rs202070025|rs530846715|rs58271568		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47707039_47707040insAA	ENST00000329319.3	+	2	608		c.e2+2		YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397691.1_Splice_Site|YBEY_ENST00000397694.1_Intron|MCM3AP_ENST00000291688.1_5'Flank|YBEY_ENST00000397701.4_Splice_Site|YBEY_ENST00000339195.6_Splice_Site|MCM3AP_ENST00000397708.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)						rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.?(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTTCATGAGGTAAAAAAAAAAT	0.351																																																	1	Unknown(1)	lung(1)																																								SO:0001630	splice_region_variant	0			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 57"	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.210+2->AA	21.37:g.47707048_47707049dupAA			B7WPA9|B7WPF7|D3DSN2	Splice_Site	INS	-	e1+2	ENST00000329319.3	37	c.210+2_210+1	CCDS33591.1	21																																																																																			YBEY	-	-	ENSG00000182362		0.351	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	HGNC	protein_coding	OTTHUMT00000207265.1		0	22	0	-	NM_058181	Intron	47707040	1	tier1		no_errors	ENST00000329319	ensembl	human	known	74_37	splice_site_ins	11.43	31	4	INS	1.000:0.124	AA	AA	47707040	-	AA	47707039	8	5	58	1	0	1	1	0	0	0	1	0	2135	1652	57	0	214	0	C21orf57	21	47707039	Splice_Site	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	174816	47707039	422856	2212	16595											
PCNT	5116	genome.wustl.edu	37	chr21	47863768	47863768	+	Frame_Shift_Del	DEL	C	C	-																															tccacccagaaccagagagtCccccccaacccgggatgtac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47863768delC	ENST00000359568.5	+	45	9853	c.9746delC	c.(9745-9747)tccfs	p.S3249fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3249					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.T3252fs*84(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGAGAGTCCCCCCCAACC	0.582																																																	1	Insertion - Frameshift(1)	lung(1)											50	60	56					21																	47863768		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9746delC	21.37:g.47863768delC	ENSP00000352572:p.Ser3249fs		O43152|Q7Z7C9	Frame_Shift_Del	DEL	pfam_PACT_domain	p.P3251fs	ENST00000359568.5	37	c.9746	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.582	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0	98	0	C	NM_006031		47863768	1	tier1		no_errors	ENST00000359568	ensembl	human	known	74_37	frame_shift_del	40.32	37	25	DEL	0.023	-	-	47863768	C	-	47863768	7	5	58	1	0	1	0	1	0	0	0	0	11629	855	30	0	9924	0	PCNT	21	47863768	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	156729	47863768	266127	2213	16596											
CECR6	27439	genome.wustl.edu	37	chr22	17600401	17600401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggtggtggaggggcGgagggcggagcaccgtagcc	6	3	24	8	4	0	0	0	0	0	0	0	4	0	4	2	10	2	2	2	10	1	1	rs377470319		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:17600401G>A	ENST00000331437.3	-	1	1742	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	CECR6_ENST00000399875.1_Silent_p.S184S|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	539										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GTGGAGGGGCGGAGGGCGGAG	0.721													G|||	1	0.000199681	8e-04	0	5008	,	,		11896	0		0	False		,,,				2504	0																0								G	,	4,4380		0,4,2188	12	12	12		552,1617	-8.5	0	22		12	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	CECR6	NM_001163079.1,NM_031890.3	,	0,4,6467	AA,AG,GG		0.0,0.0912,0.0309	,	184/224,539/579	17600401	4,12938	2192	4279	6471	SO:0001819	synonymous_variant	0			AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1617C>T	22.37:g.17600401G>A			A8MYY1	Silent	SNP	NULL	p.S539	ENST00000331437.3	37	c.1617	CCDS13740.1	22																																																																																			CECR6	-	NULL	ENSG00000183307		0.721	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	CECR6	HGNC	protein_coding	OTTHUMT00000075359.4	-	0	36	0	G	NM_031890		17600401	-1	tier1	-	no_errors	ENST00000331437	ensembl	human	known	74_37	silent	43.24	21	16	SNP	0.000	A	A	17600401	G	A	17600401	2	1	58	1	0	0	0	0	0	0	0	1	3215	1103	39	1		1	CECR6	22	17600401	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		17600401	33704165	2214	16597											
CECR2	27443	genome.wustl.edu	37	chr22	18028458	18028458	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccccagcattttcccccaAggggctttcagtctaaccac	9	10	6	16	0	2	0	1	0	1	0	4	0	4	0	5	2	2	2	5	2	2	4	rs554572738		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18028458A>G	ENST00000400585.2	+	17	3427	c.2989A>G	c.(2989-2991)Agg>Ggg	p.R997G	CECR2_ENST00000262608.8_Missense_Mutation_p.R1140G|CECR2_ENST00000400573.5_Missense_Mutation_p.R1139G			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1181					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTTTCCCCCAAGGGGCTTTCA	0.587													A|||	1	0.000199681	8e-04	0	5008	,	,		17373	0		0	False		,,,				2504	0																0													51	53	53					22																	18028458		1911	4117	6028	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2989A>G	22.37:g.18028458A>G	ENSP00000383428:p.Arg997Gly		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1139G	ENST00000400585.2	37	c.3415		22	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233757	0.05983	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.35605	1.41;1.41;1.3	4.02	-1.16	0.09678	.	0.119263	0.35677	N	0.003048	T	0.32346	0.0826	M	0.67953	2.075	0.09310	N	1	B;B;B	0.21753	0.06;0.022;0.06	B;B;B	0.17433	0.018;0.011;0.018	T	0.37596	-0.9699	10	0.66056	D	0.02	-13.8646	9.9786	0.41800	0.2369:0.6697:0.0934:0.0	.	1181;997;1139	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	G	997;1139;1140	ENSP00000383428:R997G;ENSP00000383417:R1139G;ENSP00000262608:R1140G	ENSP00000262608:R1140G	R	+	1	2	CECR2	16408458	0.477000	0.25909	0.040000	0.18447	0.039000	0.13416	0.931000	0.28871	-0.058000	0.13177	0.459000	0.35465	AGG	CECR2	-	NULL	ENSG00000099954		0.587	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	-	0	35	0	A	NM_031413		18028458	1	tier1	-	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	27.27	24	9	SNP	0.017	G	G	18028458	A	G	18028458	3	3	58	1	0	0	0	0	1	0	0	0	3213	63	3	4	3479	4	CECR2	22	18028458	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	428057	18028458	33276108	2215	16598											
MICAL3	57553	genome.wustl.edu	37	chr22	18291687	18291687	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcctccacctgctgcAgctgccgctggatgatctat	5	11	9	16	1	2	1	0	1	2	0	4	2	3	2	5	1	4	4	5	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18291687A>C	ENST00000441493.2	-	29	5925	c.5573T>G	c.(5572-5574)cTg>cGg	p.L1858R	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1858					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CACCTGCTGCAGCTGCCGCTG	0.647																																																	0													6	10	9					22																	18291687		1983	4071	6054	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5573T>G	22.37:g.18291687A>C	ENSP00000416015:p.Leu1858Arg		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.L1858R	ENST00000441493.2	37	c.5573	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.11|18.11	3.551223|3.551223	0.65311|0.65311	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.55052	.|0.54	5.95|5.95	4.89|4.89	0.63831|0.63831	.|Domain of unknown function DUF3585 (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.76821|0.76821	0.4041|0.4041	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.82116|0.82116	-0.0616|-0.0616	5|10	.|0.87932	.|D	.|0	.|.	12.6095|12.6095	0.56544|0.56544	0.8762:0.0:0.0:0.1238|0.8762:0.0:0.0:0.1238	.|.	.|1858	.|Q7RTP6	.|MICA3_HUMAN	G|R	840|1858	.|ENSP00000416015:L1858R	.|ENSP00000416015:L1858R	C|L	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16671687|16671687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.260000|7.260000	0.78391|0.78391	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	TGC|CTG	MICAL3	-	pfam_DUF3585	ENSG00000243156		0.647	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0	44	0	A			18291687	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C	C	18291687	A	C	18291687	3	2	58	1	0	0	0	0	1	0	0	0	9609	188	7	4	451	4	MICAL3	22	18291687	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	263229	18291687	33012879	2216	16599											
MICAL3	57553	genome.wustl.edu	37	chr22	18387473	18387473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtagatcatgtatggTgaatggccagagatgcaaga	13	9	12	7	1	1	4	1	1	0	3	2	5	1	4	2	2	1	3	2	2	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18387473T>C	ENST00000441493.2	-	3	749	c.397A>G	c.(397-399)Acc>Gcc	p.T133A	MICAL3_ENST00000444520.1_Missense_Mutation_p.T133A|MICAL3_ENST00000414725.2_Missense_Mutation_p.T133A|MICAL3_ENST00000383094.3_Missense_Mutation_p.T133A|MICAL3_ENST00000400561.2_Missense_Mutation_p.T133A|MICAL3_ENST00000585038.1_Missense_Mutation_p.T133A|MICAL3_ENST00000207726.7_Missense_Mutation_p.T133A|MICAL3_ENST00000429452.1_Missense_Mutation_p.T133A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	133	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCATGTATGGTGAATGGCCAG	0.483																																																	0													228	203	211					22																	18387473		1568	3582	5150	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.397A>G	22.37:g.18387473T>C	ENSP00000416015:p.Thr133Ala		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.T133A	ENST00000441493.2	37	c.397	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163225	0.38217	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.76	5.76	0.90799	.	0.045123	0.85682	D	0.000000	T	0.14787	0.0357	N	0.13371	0.34	0.47547	D	0.999451	B;B;B;B;P	0.36909	0.006;0.001;0.005;0.02;0.573	B;B;B;B;B	0.34873	0.012;0.006;0.023;0.043;0.191	T	0.06075	-1.0847	10	0.51188	T	0.08	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	133;133;133;133;133	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	A	133	ENSP00000416015:T133A;ENSP00000414846:T133A;ENSP00000383406:T133A;ENSP00000410315:T133A;ENSP00000391827:T133A;ENSP00000372574:T133A;ENSP00000207726:T133A	ENSP00000207726:T133A	T	-	1	0	XXbac-B461K10.4;MICAL3	16767473	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.263000	0.72521	2.191000	0.70037	0.533000	0.62120	ACC	MICAL3	-	NULL	ENSG00000243156		0.483	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0	112	0	T			18387473	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	39.47	44	30	SNP	1.000	C	C	18387473	T	C	18387473	3	2	58	1	0	0	0	0	1	0	0	0	9609	1696	59	4	6468	4	MICAL3	22	18387473	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	95786	18387473	32917093	2217	16600											
PRODH	5625	genome.wustl.edu	37	chr22	18918568	18918568	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccatagtccaggatggcGctgacaccgaaggccctgta	10	7	11	13	2	0	1	0	1	0	0	2	3	2	2	4	3	0	2	4	3	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18918568G>A	ENST00000357068.6	-	2	682	c.417C>T	c.(415-417)agC>agT	p.S139S	PRODH_ENST00000334029.2_Silent_p.S31S|PRODH_ENST00000420436.1_Silent_p.S31S	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	139					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CCAGGATGGCGCTGACACCGA	0.597																																																	0													72	71	72					22																	18918568		2203	4300	6503	SO:0001819	synonymous_variant	0			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"proline dehydrogenase (proline oxidase )"			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.417C>T	22.37:g.18918568G>A			A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	pfam_Proline_DH	p.S139	ENST00000357068.6	37	c.417	CCDS13754.1	22																																																																																			PRODH	-	NULL	ENSG00000100033		0.597	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	-	0	46	0	G	NM_016335		18918568	-1	tier1	-	no_errors	ENST00000357068	ensembl	human	known	74_37	silent	36.17	30	17	SNP	1.000	A	A	18918568	G	A	18918568	2	1	58	1	0	0	0	0	0	0	0	1	12590	1078	38	1		1	PRODH	22	18918568	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	531095	18918568	32385998	2218	16601											
TSSK2	23617	genome.wustl.edu	37	chr22	19119732	19119732	+	Frame_Shift_Del	DEL	C	C	-																															tcagccactcgtggctgcagCcccccaagcccaaagccacg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19119732delC	ENST00000399635.2	+	1	1412	c.820delC	c.(820-822)cccfs	p.P275fs	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	275					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GTGGCTGCAGCCCCCCAAGCC	0.627																																																	0													51	46	48					22																	19119732		2203	4300	6503	SO:0001589	frameshift_variant	0			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.820delC	22.37:g.19119732delC	ENSP00000382544:p.Pro275fs		Q8IY55	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K276fs	ENST00000399635.2	37	c.820	CCDS13755.1	22																																																																																			TSSK2	-	NULL	ENSG00000206203		0.627	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	HGNC	protein_coding	OTTHUMT00000316431.1		0	45	0	C			19119732	1	tier1		no_errors	ENST00000399635	ensembl	human	known	74_37	frame_shift_del	28.57	15	6	DEL	0.998	-	-	19119732	C	-	19119732	7	5	58	1	0	1	0	1	0	0	0	0	16717	739	26	0	822	0	TSSK2	22	19119732	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	201164	19119732	32184834	2219	16602											
CDC45	8318	genome.wustl.edu	37	chr22	19496067	19496067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggatgaaggacatgcGcgtgcagactttcagcattc	11	9	12	9	2	1	3	1	2	0	1	2	5	1	5	0	2	3	2	0	2	1	2	rs369554602	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19496067G>A	ENST00000407835.1	+	14	1326	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	CDC45_ENST00000437685.2_Missense_Mutation_p.R389H|CDC45_ENST00000404724.3_Missense_Mutation_p.R311H|CDC45_ENST00000263201.1_Missense_Mutation_p.R357H			O75419	CDC45_HUMAN	cell division cycle 45	357					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R357H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AAGGACATGCGCGTGCAGACT	0.527													G|||	2	0.000399361	0	0	5008	,	,		22520	0		0	False		,,,				2504	0.002																1	Substitution - Missense(1)	endometrium(1)						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	172	132	146		1166,932,1070	5.7	1	22		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDC45	NM_001178010.1,NM_001178011.1,NM_003504.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	389/599,311/521,357/567	19496067	1,13005	2203	4300	6503	SO:0001583	missense	0			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"human CDC45"	603465	"CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like", "CDC45 cell division cycle 45-like (S. cerevisiae)", "cell division cycle 45 homolog (S. cerevisiae)"	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1070G>A	22.37:g.19496067G>A	ENSP00000385240:p.Arg357His		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	pfam_CDC45	p.R389H	ENST00000407835.1	37	c.1166	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.181161	0.94846	0.0	1.16E-4	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.999	D;D;D;D;D	0.71656	0.961;0.953;0.974;0.961;0.961	T	0.23940	-1.0174	10	0.40728	T	0.16	-17.3948	19.9197	0.97082	0.0:0.0:1.0:0.0	.	389;352;311;389;357	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	H	357;389;357;311	ENSP00000385240:R357H;ENSP00000405726:R389H;ENSP00000263201:R357H;ENSP00000384978:R311H	ENSP00000263201:R357H	R	+	2	0	CDC45	17876067	1.000000	0.71417	0.953000	0.39169	0.992000	0.81027	9.357000	0.97099	2.702000	0.92279	0.655000	0.94253	CGC	CDC45	-	pfam_CDC45	ENSG00000093009		0.527	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	-	0	78	0	G	NM_003504		19496067	1	tier1	-	no_errors	ENST00000437685	ensembl	human	known	74_37	missense	30.67	51	23	SNP	1.000	A	A	19496067	G	A	19496067	3	1	58	1	0	0	0	0	1	0	0	0	3088	1087	38	1	1220	1	CDC45	22	19496067	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	376335	19496067	31808499	2220	16603											
SEPT5	5413	genome.wustl.edu	37	chr22	19707861	19707861	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagcccatcaccgaCtatgtggaccagcagtttga	11	8	11	11	1	1	1	1	1	0	0	1	4	1	3	3	2	3	3	3	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19707861C>T	ENST00000455784.2	+	6	506	c.381C>T	c.(379-381)gaC>gaT	p.D127D	SEPT5_ENST00000406395.1_Silent_p.D127D|SEPT5_ENST00000438754.2_Silent_p.D136D|SEPT5_ENST00000383045.3_Silent_p.D136D|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	127	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CCATCACCGACTATGTGGACC	0.582																																																	0													122	107	112					22																	19707861		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"Septins"	9164	protein-coding gene	gene with protein product		602724	"peanut-like 1 (Drosophila)"	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.381C>T	22.37:g.19707861C>T			O15251|Q96MY5	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.D136	ENST00000455784.2	37	c.408	CCDS13764.1	22																																																																																			SEPT5	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000184702		0.582	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	-	0	96	0	C	NM_002688		19707861	1	tier1	-	no_errors	ENST00000383045	ensembl	human	known	74_37	silent	30.30	46	20	SNP	1.000	T	T	19707861	C	T	19707861	2	4	58	1	0	0	0	0	0	0	0	1	14112	564	20	3		3	SEPT5	22	19707861	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	211794	19707861	31596705	2221	16604											
GNB1L	54584	genome.wustl.edu	37	chr22	19808206	19808206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtggtaaccgctctccGcgtctgcaggctccagatgt	6	9	13	13	3	2	1	0	0	2	1	4	1	3	1	3	3	2	4	3	3	1	1	rs138225912		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19808206G>A	ENST00000329517.6	-	4	405	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Missense_Mutation_p.R57W|GNB1L_ENST00000403325.1_Missense_Mutation_p.R57W	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	57					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					ACCGCTCTCCGCGTCTGCAGG	0.647																																																	0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	40	44	43		169	4.5	1	22	dbSNP_134	43	0,8600		0,0,4300	no	missense	GNB1L	NM_053004.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	57/328	19808206	1,13005	2203	4300	6503	SO:0001583	missense	0			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"WD repeat domain containing"	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.169C>T	22.37:g.19808206G>A	ENSP00000331313:p.Arg57Trp		Q9H2S2|Q9H4M4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R57W	ENST00000329517.6	37	c.169	CCDS13768.1	22	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072898	0.55646	2.27E-4	0.0	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.18810	2.19;2.19;5.01	5.57	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066533	0.56097	U	0.000022	T	0.44117	0.1278	M	0.75264	2.295	0.45366	D	0.998351	D	0.89917	1.0	D	0.66847	0.947	T	0.44390	-0.9331	10	0.72032	D	0.01	-22.284	12.4576	0.55712	0.0:0.0:0.8263:0.1737	.	57	Q9BYB4	GNB1L_HUMAN	W	57	ENSP00000331313:R57W;ENSP00000385154:R57W;ENSP00000384626:R57W	ENSP00000331313:R57W	R	-	1	2	GNB1L	18188206	0.999000	0.42202	0.956000	0.39512	0.155000	0.21991	3.169000	0.50809	1.286000	0.44565	0.557000	0.71058	CGG	GNB1L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000185838		0.647	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	-	0	69	0	G			19808206	-1	tier1	rs138225912	no_errors	ENST00000329517	ensembl	human	known	74_37	missense	54.00	23	27	SNP	0.978	A	A	19808206	G	A	19808206	3	1	58	1	0	0	0	0	1	0	0	0	6542	1086	38	1	834	1	GNB1L	22	19808206	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	100345	19808206	31496360	2222	16605											
ARVCF	421	genome.wustl.edu	37	chr22	19967479	19967479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcaactgccgtacacGccgcttgacaccctcgttct	6	8	7	20	5	1	1	0	1	1	0	2	1	1	1	5	0	3	4	5	0	2	3	rs375905723		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19967479G>A	ENST00000263207.3	-	6	1474	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406259.1_Missense_Mutation_p.R395C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R332C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R332C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R332C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	395					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGCCGTACACGCCGCTTGACA	0.692													G|||	1	0.000199681	0	0.0014	5008	,	,		15261	0		0	False		,,,				2504	0																0								G	CYS/ARG	1,4361		0,1,2180	18	18	18		1183	3.5	0.4	22		18	1,8561		0,1,4280	no	missense	ARVCF	NM_001670.2	180	0,2,6460	AA,AG,GG		0.0117,0.0229,0.0155	probably-damaging	395/963	19967479	2,12922	2181	4281	6462	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1183C>T	22.37:g.19967479G>A	ENSP00000263207:p.Arg395Cys		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R395C	ENST00000263207.3	37	c.1183	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232560	0.79688	2.29E-4	1.17E-4	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	4.61	3.52	0.40303	Armadillo-like helical (1);Armadillo-type fold (1);	0.103224	0.64402	D	0.000006	T	0.69433	0.3110	L	0.41492	1.28	0.53005	D	0.99996	D	0.71674	0.998	P	0.61658	0.892	T	0.66752	-0.5844	9	.	.	.	-14.4317	12.0767	0.53647	0.0:0.3663:0.6337:0.0	.	395	O00192	ARVC_HUMAN	C	395;332;332;332;395	ENSP00000263207:R395C;ENSP00000342042:R332C;ENSP00000384341:R332C;ENSP00000384732:R332C;ENSP00000385444:R395C	.	R	-	1	0	ARVCF	18347479	1.000000	0.71417	0.426000	0.26672	0.911000	0.54048	5.195000	0.65131	2.589000	0.87451	0.650000	0.86243	CGT	ARVCF	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000099889		0.692	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0	24	0	G	NM_001670		19967479	-1	tier1	-	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.989	A	A	19967479	G	A	19967479	3	1	58	1	0	0	0	0	1	0	0	0	1004	1087	38	1	1761	1	ARVCF	22	19967479	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	159273	19967479	31337087	2223	16606											
RIMBP3	85376	genome.wustl.edu	37	chr22	20456704	20456704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaaggcaggttcccttggGccggagaacgccacctccta	9	6	12	14	2	0	2	0	0	0	2	2	3	2	2	5	4	1	2	5	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:20456704G>A	ENST00000426804.1	-	1	5082	c.4598C>T	c.(4597-4599)gCc>gTc	p.A1533V	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1533										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GTTCCCTTGGGCCGGAGAACG	0.627																																																	0													30	35	34					22																	20456704		774	2001	2775	SO:0001583	missense	0			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4598C>T	22.37:g.20456704G>A	ENSP00000391564:p.Ala1533Val		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.A1533V	ENST00000426804.1	37	c.4598	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	G	1.474	-0.559155	0.03967	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.18810	2.19	3.58	-1.66	0.08265	.	1.665800	0.03405	N	0.203965	T	0.13457	0.0326	L	0.33485	1.01	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21314	-1.0249	10	0.27082	T	0.32	0.1588	0.758	0.01002	0.2235:0.1874:0.3979:0.1912	.	1439	Q9UFD9	RIM3A_HUMAN	V	1439;1533	ENSP00000391564:A1533V	ENSP00000347318:A1439V	A	-	2	0	RIMBP3	18836704	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.224000	0.09164	0.011000	0.14865	0.423000	0.28283	GCC	RIMBP3	-	NULL	ENSG00000196622		0.627	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	-	0	68	0	G	NM_015672		20456704	-1	tier1	-	no_errors	ENST00000426804	ensembl	human	known	74_37	missense	59.09	27	39	SNP	0.000	A	A	20456704	G	A	20456704	3	1	58	1	0	0	0	0	1	0	0	0	13409	1203	42	3	325	3	RIMBP3	22	20456704	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	489225	20456704	30847862	2224	16607											
SCARF2	91179	genome.wustl.edu	37	chr22	20780161	20780161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgcgccgatttgtcgctgGgcgtccgtttcctcttgctg	2	15	12	12	5	1	0	0	0	1	0	4	1	3	0	3	1	2	3	3	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:20780161G>T	ENST00000266214.5	-	11	2221	c.2117C>A	c.(2116-2118)cCc>cAc	p.P706H	SCARF2_ENST00000405555.3_Missense_Mutation_p.P701H	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	706	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTTGTCGCTGGGCGTCCGTTT	0.746																																																	0													17	13	15					22																	20780161		2180	4242	6422	SO:0001583	missense	0			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2117C>A	22.37:g.20780161G>T	ENSP00000266214:p.Pro706His		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.P701H	ENST00000266214.5	37	c.2102	CCDS13779.1	22	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068798	0.76301	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.22134	2.02;1.97	3.38	3.38	0.38709	.	0.296844	0.27289	U	0.020058	T	0.28699	0.0711	N	0.24115	0.695	0.25628	N	0.98634	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.02505	-1.1149	10	0.48119	T	0.1	.	10.483	0.44704	0.0:0.0:1.0:0.0	.	701;701	E5RFB8;Q96GP6	.;SREC2_HUMAN	H	701;701;706	ENSP00000385589:P701H;ENSP00000266214:P706H	ENSP00000266214:P706H	P	-	2	0	SCARF2	19110161	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.750000	0.62162	1.917000	0.55516	0.447000	0.29281	CCC	SCARF2	-	NULL	ENSG00000244486		0.746	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	-	0	73	0	G			20780161	-1	tier1	-	no_errors	ENST00000405555	ensembl	human	known	74_37	missense	41.67	35	25	SNP	1.000	T	T	20780161	G	T	20780161	3	4	58	1	0	0	0	0	1	0	0	0	13929	1232	43	3	499	3	SCARF2	22	20780161	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	323457	20780161	30524405	2225	16608											
PI4KA	5297	genome.wustl.edu	37	chr22	21119499	21119499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctatttcacagaccccCtcgtaccattcttctggcca	7	12	7	15	1	3	1	1	0	2	1	4	1	3	1	4	2	1	2	4	2	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:21119499C>T	ENST00000572273.1	-	21	2519	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Silent_p.E821E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	763					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CACAGACCCCCTCGTACCATT	0.493																																					GBM(136;1332 1831 3115 23601 50806)												0													109	113	112					22																	21119499		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2289G>A	22.37:g.21119499C>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E821	ENST00000572273.1	37	c.2463		22																																																																																			PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	13	0	C	NM_058004		21119499	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	36.36	21	12	SNP	0.994	T	T	21119499	C	T	21119499	2	4	58	1	0	0	0	0	0	0	0	1	11912	680	24	3		3	PI4KA	22	21119499	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	339338	21119499	30185067	2226	16609											
LZTR1	8216	genome.wustl.edu	37	chr22	21345976	21345976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaccacccccgcagcggcGctacgggcataccatggtgg	7	4	12	18	4	0	0	0	0	0	0	0	0	0	0	5	4	3	3	5	4	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:21345976G>A	ENST00000215739.8	+	9	1210	c.851G>A	c.(850-852)cGc>cAc	p.R284H	LZTR1_ENST00000389355.3_Missense_Mutation_p.R265H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	284					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGCAGCGGCGCTACGGGCAT	0.632																																																	0													34	32	33					22																	21345976		2200	4295	6495	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.851G>A	22.37:g.21345976G>A	ENSP00000215739:p.Arg284His		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R284H	ENST00000215739.8	37	c.851	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.540186	0.96474	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	D;D	0.85702	-2.02;-2.02	5.24	5.24	0.73138	Kelch-type beta propeller (1);	0.052090	0.85682	D	0.000000	D	0.94305	0.8170	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.98;0.997;0.98;0.949	D	0.95600	0.8662	10	0.87932	D	0	-34.3649	16.3155	0.82918	0.0:0.0:1.0:0.0	.	265;243;284;243	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	243;284;265	ENSP00000215739:R284H;ENSP00000374006:R265H	ENSP00000215739:R284H	R	+	2	0	LZTR1	19675976	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.630000	0.83225	2.444000	0.82710	0.462000	0.41574	CGC	LZTR1	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000099949		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	42	0	G	NM_006767		21345976	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	A	A	21345976	G	A	21345976	3	1	58	1	0	0	0	0	1	0	0	0	9173	1087	38	1	885	1	LZTR1	22	21345976	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	226477	21345976	29958590	2227	16610											
TOP3B	8940	genome.wustl.edu	37	chr22	22319678	22319678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagaagagctggccacacGcagcatctccacagtgttca	12	6	10	13	1	2	2	1	0	1	2	3	3	2	2	2	1	2	4	2	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:22319678G>A	ENST00000398793.2	-	9	1356	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	TOP3B_ENST00000413067.2_Missense_Mutation_p.R37C|TOP3B_ENST00000357179.5_Missense_Mutation_p.R308C	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	308					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.R308C(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTGGCCACACGCAGCATCTCC	0.567																																																	2	Substitution - Missense(2)	breast(2)											83	65	71					22																	22319678		2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.922C>T	22.37:g.22319678G>A	ENSP00000381773:p.Arg308Cys		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.R308C	ENST00000398793.2	37	c.922	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550338	0.65311	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.24538	1.85;1.85;1.85	4.37	4.37	0.52481	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.977	T	0.66272	-0.5965	10	0.87932	D	0	.	13.0433	0.58913	0.0:0.0:0.8386:0.1614	.	308;308	O95985;O95985-2	TOP3B_HUMAN;.	C	308;308;37	ENSP00000349705:R308C;ENSP00000381773:R308C;ENSP00000393118:R37C	ENSP00000349705:R308C	R	-	1	0	TOP3B	20649678	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.035000	0.49759	2.246000	0.74042	0.561000	0.74099	CGT	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd	ENSG00000100038		0.567	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0	71	0	G	NM_003935		22319678	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	28.57	55	22	SNP	0.979	A	A	22319678	G	A	22319678	3	1	58	1	0	0	0	0	1	0	0	0	16416	1087	38	1	1706	1	TOP3B	22	22319678	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	973702	22319678	28984888	2228	16611											
TOP3B	8940	genome.wustl.edu	37	chr22	22323023	22323023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtaggtctctggttTgaaggactggattttatcat	9	14	10	8	0	2	1	1	1	1	0	3	3	2	3	1	4	0	2	1	4	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:22323023T>C	ENST00000398793.2	-	7	1140	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.K236E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	236					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTCTCTGGTTTGAAGGACTGG	0.502																																																	0													128	126	127					22																	22323023		2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.706A>G	22.37:g.22323023T>C	ENSP00000381773:p.Lys236Glu		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.K236E	ENST00000398793.2	37	c.706	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728471	0.89390	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.23950	1.88;1.88;1.88	5.04	5.04	0.67666	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);	0.098626	0.64402	D	0.000002	T	0.35537	0.0935	L	0.61036	1.89	0.80722	D	1	P	0.40282	0.711	P	0.45343	0.477	T	0.13282	-1.0515	10	0.49607	T	0.09	.	14.9351	0.70948	0.0:0.0:0.0:1.0	.	236	O95985	TOP3B_HUMAN	E	236	ENSP00000349705:K236E;ENSP00000381773:K236E;ENSP00000390977:K236E	ENSP00000349705:K236E	K	-	1	0	TOP3B	20653023	1.000000	0.71417	0.973000	0.42090	0.993000	0.82548	7.819000	0.86621	2.111000	0.64477	0.454000	0.30748	AAA	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2	ENSG00000100038		0.502	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0	88	0	T	NM_003935		22323023	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	36.21	37	21	SNP	1.000	C	C	22323023	T	C	22323023	3	2	58	1	0	0	0	0	1	0	0	0	16416	1821	63	4	1930	4	TOP3B	22	22323023	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	3345	22323023	28981543	2229	16612											
RTDR1	27156	genome.wustl.edu	37	chr22	23404125	23404125	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccctctcgagatatgcTggggcagagagggaacagag	10	7	15	9	1	1	3	0	0	1	3	2	6	1	4	1	3	3	2	1	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:23404125T>C	ENST00000216036.4	-	6	850		c.e6-2			NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN												breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CGAGATATGCTGGGGCAGAGA	0.547																																																	0													54	42	46					22																	23404125		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000216036.4:c.654-2A>G	22.37:g.23404125T>C				Splice_Site	SNP	-	e5-2	ENST00000216036.4	37	c.654-2	CCDS13803.1	22	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600696	0.28534	.	.	ENSG00000100218	ENST00000216036	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.971	0.47438	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTDR1	21734125	1.000000	0.71417	0.979000	0.43373	0.092000	0.18411	5.162000	0.64942	1.934000	0.56057	0.379000	0.24179	.	RTDR1	-	-	ENSG00000100218		0.547	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	HGNC	protein_coding	OTTHUMT00000319049.1	-	0	32	0	T		Intron	23404125	-1	tier1	-	no_errors	ENST00000216036	ensembl	human	known	74_37	splice_site	44.44	20	16	SNP	0.998	C	C	23404125	T	C	23404125	5	2	58	1	0	0	0	0	0	0	1	0	13764	1594	55	4	402	4	RTDR1	22	23404125	Splice_Site	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	1081102	23404125	27900441	2230	16613											
RAB36	9609	genome.wustl.edu	37	chr22	23503101	23503101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcttcagccgcgtagccGccctggcattcgagcagtcg	6	9	11	15	5	2	0	1	0	1	0	4	1	2	0	3	1	3	3	3	1	1	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:23503101G>A	ENST00000263116.2	+	10	893	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	RAB36_ENST00000341989.4_Missense_Mutation_p.A263T	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	285					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CCGCGTAGCCGCCCTGGCATT	0.597																																																	0													76	66	70					22																	23503101		2203	4300	6503	SO:0001583	missense	0			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.853G>A	22.37:g.23503101G>A	ENSP00000263116:p.Ala285Thr		Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A285T	ENST00000263116.2	37	c.853	CCDS13805.1	22	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934741	0.52866	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.76578	-1.03;-1.03	5.49	3.35	0.38373	.	0.062422	0.64402	D	0.000006	T	0.73544	0.3600	L	0.31065	0.9	0.47214	D	0.999358	D;D	0.76494	0.999;0.989	P;P	0.58077	0.823;0.832	T	0.68565	-0.5375	10	0.30078	T	0.28	-25.9063	6.5406	0.22378	0.084:0.0:0.5957:0.3203	.	263;285	O95755-2;O95755	.;RAB36_HUMAN	T	285;263	ENSP00000263116:A285T;ENSP00000343494:A263T	ENSP00000263116:A285T	A	+	1	0	RAB36	21833101	0.953000	0.32496	0.693000	0.30195	0.049000	0.14656	1.825000	0.39081	0.772000	0.33382	0.655000	0.94253	GCC	RAB36	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000100228		0.597	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1	-	0	59	0	G	NM_004914		23503101	1	tier1	-	no_errors	ENST00000263116	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.459	A	A	23503101	G	A	23503101	3	1	58	1	0	0	0	0	1	0	0	0	12971	1087	38	1	891	1	RAB36	22	23503101	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	98976	23503101	27801465	2231	16614											
SUSD2	56241	genome.wustl.edu	37	chr22	24584236	24584236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcatcatctttgggggcctCgcggtggtggcggcggttgc	2	10	19	10	4	2	0	1	0	1	0	3	0	2	0	1	8	1	2	1	8	0	2	rs146576308	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:24584236C>T	ENST00000358321.3	+	14	2646	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	795					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TTGGGGGCCTCGCGGTGGTGG	0.677																																																	0								C		0,4406		0,0,2203	61	62	62		2385	0.1	0.9	22	dbSNP_134	62	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SUSD2	NM_019601.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		795/823	24584236	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2385C>T	22.37:g.24584236C>T			Q9H5Y6	Silent	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.L795	ENST00000358321.3	37	c.2385	CCDS13824.1	22																																																																																			SUSD2	-	NULL	ENSG00000099994		0.677	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	-	0	60	0	C	NM_019601		24584236	1	tier1	rs146576308	no_errors	ENST00000358321	ensembl	human	known	74_37	silent	40.91	25	18	SNP	0.515	T	T	24584236	C	T	24584236	2	4	58	1	0	0	0	0	0	0	0	1	15455	871	31	1		1	SUSD2	22	24584236	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1081135	24584236	26720330	2232	16615											
MYO18B	84700	genome.wustl.edu	37	chr22	26173631	26173631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggcgctgctgaaccagCggagagaccagagcattgtg	10	6	15	10	2	0	3	0	1	0	2	0	5	0	4	2	2	4	3	2	2	1	1	rs375068756		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26173631C>T	ENST00000407587.2	+	8	2120	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	MYO18B_ENST00000335473.7_Missense_Mutation_p.R651W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R651W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	651	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTGAACCAGCGGAGAGACCA	0.652																																																	0								C	TRP/ARG	1,4145		0,1,2072	53	60	58		1951	2	0.1	22		58	0,8414		0,0,4207	no	missense	MYO18B	NM_032608.5	101	0,1,6279	TT,TC,CC		0.0,0.0241,0.0080	probably-damaging	651/2568	26173631	1,12559	2073	4207	6280	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1951C>T	22.37:g.26173631C>T	ENSP00000386096:p.Arg651Trp		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R651W	ENST00000407587.2	37	c.1951		22	.	.	.	.	.	.	.	.	.	.	C	8.989	0.977149	0.18812	2.41E-4	0.0	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.73363	-0.74;-0.74;-0.74	5.25	1.96	0.26148	Myosin head, motor domain (2);	0.067051	0.56097	D	0.000021	T	0.75057	0.3798	M	0.90019	3.08	0.38642	D	0.95163	B;B;B;B	0.32071	0.198;0.355;0.162;0.306	B;B;B;B	0.29598	0.039;0.104;0.029;0.063	T	0.74084	-0.3779	10	0.87932	D	0	.	8.6361	0.33948	0.27:0.6586:0.0:0.0714	.	164;651;651;651	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	W	651	ENSP00000441229:R651W;ENSP00000334563:R651W;ENSP00000386096:R651W	ENSP00000334563:R651W	R	+	1	2	MYO18B	24503631	0.840000	0.29493	0.117000	0.21633	0.002000	0.02628	0.971000	0.29396	0.199000	0.20427	-0.244000	0.11960	CGG	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.652	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	139	0	C	NM_032608		26173631	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	42.16	59	43	SNP	0.992	T	T	26173631	C	T	26173631	3	4	58	1	0	0	0	0	1	0	0	0	10104	759	27	1	1977	1	MYO18B	22	26173631	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1589395	26173631	25130935	2233	16616											
MYO18B	84700	genome.wustl.edu	37	chr22	26239856	26239856	+	Frame_Shift_Del	DEL	A	A	-																															ccccaggtcctgcaccagtcAaaaaggtgagttgggtcagg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26239856delA	ENST00000407587.2	+	18	3535	c.3366delA	c.(3364-3366)tcafs	p.S1122fs	MYO18B_ENST00000335473.7_Frame_Shift_Del_p.S1121fs|MYO18B_ENST00000536101.1_Frame_Shift_Del_p.S1121fs			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1121	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCACCAGTCAAAAAGGTGAG	0.592																																																	0													26	27	27					22																	26239856		1977	4150	6127	SO:0001589	frameshift_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3366delA	22.37:g.26239856delA	ENSP00000386096:p.Ser1122fs		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1123fs	ENST00000407587.2	37	c.3363		22																																																																																			MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0	38	0	A	NM_032608		26239856	1	tier1		no_errors	ENST00000335473	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.001	-	-	26239856	A	-	26239856	7	5	58	1	0	1	0	1	0	0	0	0	10104	117	5	0	3429	0	MYO18B	22	26239856	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	66225	26239856	25064710	2234	16617											
MYO18B	84700	genome.wustl.edu	37	chr22	26422673	26422673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgagggaaaagctgcccAgtccttcagcggccctctcg	7	8	12	14	3	2	0	1	0	1	0	5	2	3	1	3	2	3	1	3	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26422673A>G	ENST00000407587.2	+	43	6905	c.6736A>G	c.(6736-6738)Agt>Ggt	p.S2246G	MYO18B_ENST00000335473.7_Missense_Mutation_p.S2245G|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2245G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2245						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAAGCTGCCCAGTCCTTCAGC	0.607																																																	0													24	25	25					22																	26422673		1907	4104	6011	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6736A>G	22.37:g.26422673A>G	ENSP00000386096:p.Ser2246Gly		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S2245G	ENST00000407587.2	37	c.6733		22	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880540	0.72294	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.94687	-3.47;-3.47;-3.49	4.94	4.94	0.65067	.	0.219054	0.31071	N	0.008310	D	0.96052	0.8714	M	0.64997	1.995	0.31770	N	0.632221	D;D;D;D;D	0.76494	0.993;0.999;0.999;0.999;0.999	P;P;P;D;D	0.66602	0.879;0.883;0.883;0.945;0.945	D	0.96026	0.9013	10	0.62326	D	0.03	.	13.4051	0.60908	1.0:0.0:0.0:0.0	.	1758;2247;2245;2246;2245	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	G	2245;2245;2246	ENSP00000441229:S2245G;ENSP00000334563:S2245G;ENSP00000386096:S2246G	ENSP00000334563:S2245G	S	+	1	0	MYO18B	24752673	0.994000	0.37717	0.970000	0.41538	0.993000	0.82548	3.402000	0.52608	1.862000	0.54008	0.402000	0.26972	AGT	MYO18B	-	NULL	ENSG00000133454		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	38	0	A	NM_032608		26422673	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.870	G	G	26422673	A	G	26422673	3	3	58	1	0	0	0	0	1	0	0	0	10104	188	7	4	6899	4	MYO18B	22	26422673	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	182817	26422673	24881893	2235	16618											
MYO18B	84700	genome.wustl.edu	37	chr22	26423570	26423570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcgagcgaacgtcccccGagcggagagagccagggacg	9	2	18	12	6	0	1	0	0	0	1	1	7	1	3	3	3	4	0	3	3	1	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26423570G>A	ENST00000407587.2	+	43	7802	c.7633G>A	c.(7633-7635)Gag>Aag	p.E2545K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2544K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2544K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2544						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACGTCCCCCGAGCGGAGAGA	0.552																																																	0													43	44	43					22																	26423570		1950	4124	6074	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7633G>A	22.37:g.26423570G>A	ENSP00000386096:p.Glu2545Lys		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E2544K	ENST00000407587.2	37	c.7630		22	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180113	0.21787	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88354	-2.35;-2.35;-2.37	5.17	2.78	0.32641	.	0.386006	0.19525	N	0.112195	D	0.87485	0.6189	M	0.62723	1.935	0.09310	N	1	P;P;P;P;D	0.56035	0.907;0.956;0.956;0.948;0.974	B;B;B;B;P	0.44696	0.246;0.27;0.27;0.325;0.458	T	0.80915	-0.1169	10	0.87932	D	0	.	11.7252	0.51706	0.0:0.1247:0.7309:0.1444	.	2057;2546;2544;2545;2544	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	K	2544;2544;2545	ENSP00000441229:E2544K;ENSP00000334563:E2544K;ENSP00000386096:E2545K	ENSP00000334563:E2544K	E	+	1	0	MYO18B	24753570	0.825000	0.29262	0.003000	0.11579	0.011000	0.07611	2.193000	0.42658	1.119000	0.41883	0.561000	0.74099	GAG	MYO18B	-	NULL	ENSG00000133454		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	27	0	G	NM_032608		26423570	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.001	A	A	26423570	G	A	26423570	3	1	58	1	0	0	0	0	1	0	0	0	10104	1059	37	1	7796	1	MYO18B	22	26423570	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	897	26423570	24880996	2236	16619											
SEZ6L	23544	genome.wustl.edu	37	chr22	26692908	26692908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccatccgcggggtggacGgccctaccctgaccgtcctg	4	8	12	17	4	1	1	0	1	1	0	4	2	3	2	6	4	1	0	6	4	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26692908G>T	ENST00000248933.6	+	4	1119	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C	SEZ6L_ENST00000404234.3_Missense_Mutation_p.G342C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G115C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G342C|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G342C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G342C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G115C			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	342	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGGGTGGACGGCCCTACCCT	0.592																																																	0													62	47	52					22																	26692908		2203	4300	6503	SO:0001583	missense	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1024G>T	22.37:g.26692908G>T	ENSP00000248933:p.Gly342Cys		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G342C	ENST00000248933.6	37	c.1024	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991587	0.54041	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.13	5.13	0.70059	CUB (5);	0.225703	0.30210	N	0.010157	T	0.40473	0.1118	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.986;0.983;0.95;0.992;0.996;0.983;0.983	T	0.22312	-1.0220	10	0.87932	D	0	.	17.5693	0.87930	0.0:0.0:1.0:0.0	.	342;342;115;342;342;342;342	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	C	342;342;342;342;342;115;115	ENSP00000384772:G342C;ENSP00000437037:G342C;ENSP00000354185:G342C;ENSP00000248933:G342C;ENSP00000342661:G342C;ENSP00000384838:G115C;ENSP00000384733:G115C	ENSP00000248933:G342C	G	+	1	0	SEZ6L	25022908	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	6.152000	0.71812	2.377000	0.81083	0.563000	0.77884	GGC	SEZ6L	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000100095		0.592	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3		0	48	0	G			26692908	1			no_errors	ENST00000248933	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	26692908	G	T	26692908	3	4	58	1	0	0	0	0	1	0	0	0	14188	1116	39	2	1038	2	SEZ6L	22	26692908	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	269338	26692908	24611658	2237	16620											
CRYBA4	1413	genome.wustl.edu	37	chr22	27024395	27024395	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacgtccactctggggcGtaagtgtattcaaggctcta	8	12	10	11	2	3	0	1	0	2	0	5	0	5	0	2	3	0	3	2	3	4	5	rs182284999		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:27024395G>A	ENST00000354760.3	+	5	478		c.e5+1		CRYBA4_ENST00000466315.1_Splice_Site	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4						camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACTCTGGGGCGTAAGTGTATT	0.562													G|||	1	0.000199681	0	0	5008	,	,		20068	0		0.001	False		,,,				2504	0																0													106	88	94					22																	27024395		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.443+1G>A	22.37:g.27024395G>A			Q4VB22|Q6ICE4	Splice_Site	SNP	-	e4+1	ENST00000354760.3	37	c.443+1	CCDS13841.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.5	4.155354	0.78114	.	.	ENSG00000196431	ENST00000354760	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3103	0.66413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRYBA4	25354395	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.499000	0.73683	2.242000	0.73789	0.655000	0.94253	.	CRYBA4	-	-	ENSG00000196431		0.562	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA4	HGNC	protein_coding	OTTHUMT00000320793.1		0	21	0	G	NM_001886	Intron	27024395	1			no_errors	ENST00000354760	ensembl	human	known	74_37	splice_site	25.00	18	6	SNP	1.000	A	A	27024395	G	A	27024395	5	1	58	1	0	0	0	0	0	0	1	0	3916	1159	40	1	458	1	CRYBA4	22	27024395	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	331487	27024395	24280171	2238	16621											
MN1	4330	genome.wustl.edu	37	chr22	28196395	28196395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatagcaggatccacagggCcagggggccccccagtgtgg	8	5	15	13	0	1	0	1	0	0	0	2	1	2	1	5	5	1	1	5	5	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:28196395C>G	ENST00000302326.4	-	1	1091	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	46					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ATCCACAGGGCCAGGGGGCCC	0.642			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	0													56	63	61					22																	28196395		1898	4107	6005	SO:0001583	missense	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.137G>C	22.37:g.28196395C>G	ENSP00000304956:p.Gly46Ala		A9Z1V9	Missense_Mutation	SNP	NULL	p.G46A	ENST00000302326.4	37	c.137	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346595	0.24426	.	.	ENSG00000169184	ENST00000302326	T	0.69561	-0.41	4.32	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.19112	0.55	0.37796	D	0.927549	B	0.26602	0.154	B	0.23716	0.048	T	0.48603	-0.9021	10	0.27785	T	0.31	-15.7389	12.823	0.57704	0.0:0.6864:0.3136:0.0	.	46	Q10571	MN1_HUMAN	A	46	ENSP00000304956:G46A	ENSP00000304956:G46A	G	-	2	0	MN1	26526395	1.000000	0.71417	0.975000	0.42487	0.573000	0.36030	3.208000	0.51114	1.057000	0.40506	0.462000	0.41574	GGC	MN1	-	NULL	ENSG00000169184		0.642	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	-	0	53	0	C	NM_002430		28196395	-1	tier1	-	no_errors	ENST00000302326	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G	G	28196395	C	G	28196395	3	3	58	1	0	0	0	0	1	0	0	0	9711	739	26	5	3833	5	MN1	22	28196395	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1172000	28196395	23108171	2239	16622											
ASCC2	84164	genome.wustl.edu	37	chr22	30189349	30189349	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccactatggcctcacCtgcggctgatgagctcgtca	7	8	9	17	2	2	2	2	2	0	0	3	2	2	2	4	2	2	2	4	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30189349C>A	ENST00000397771.2	-	18	2096	c.1919G>T	c.(1918-1920)aGg>aTg	p.R640M	ASCC2_ENST00000307790.3_Splice_Site_p.R640M|ASCC2_ENST00000542393.1_Splice_Site_p.R564M			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ATGGCCTCACCTGCGGCTGAT	0.582																																																	0													67	51	57					22																	30189349		2203	4300	6503	SO:0001630	splice_region_variant	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1919+1G>T	22.37:g.30189349C>A			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.R640M	ENST00000397771.2	37	c.1919	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910768	0.92178	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.12039	2.72;2.72;2.72	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.03077	-1.1075	9	.	.	.	-19.9409	17.9686	0.89106	0.0:1.0:0.0:0.0	.	564;640	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	M	640;640;564	ENSP00000305502:R640M;ENSP00000380877:R640M;ENSP00000437570:R564M	.	R	-	2	0	ASCC2	28519349	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.782000	0.62396	2.722000	0.93159	0.609000	0.83330	AGG	ASCC2	-	NULL	ENSG00000100325		0.582	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	-	0	51	0	C	NM_032204	Missense_Mutation	30189349	-1	tier1	-	no_errors	ENST00000307790	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	A	A	30189349	C	A	30189349	5	1	58	1	0	0	0	0	0	0	1	0	1033	695	24	3	370	3	ASCC2	22	30189349	Splice_Site	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1992954	30189349	21115217	2240	16623											
MTMR3	8897	genome.wustl.edu	37	chr22	30415781	30415781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgcccacagggcaggCattgagatacaggagggtaa	13	5	14	9	0	0	1	0	1	0	1	0	4	0	2	2	4	3	3	2	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30415781C>T	ENST00000401950.2	+	17	2475	c.2133C>T	c.(2131-2133)ggC>ggT	p.G711G	MTMR3_ENST00000333027.3_Silent_p.G711G|MTMR3_ENST00000406629.1_Silent_p.G711G|MTMR3_ENST00000323630.5_Silent_p.G575G|MTMR3_ENST00000351488.3_Silent_p.G711G|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	711					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGGGCAGGCATTGAGATAC	0.547																																																	0													54	61	59					22																	30415781		2203	4300	6503	SO:0001819	synonymous_variant	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2133C>T	22.37:g.30415781C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G711	ENST00000401950.2	37	c.2133	CCDS13870.1	22																																																																																			MTMR3	-	NULL	ENSG00000100330		0.547	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0	17	0	C	NM_021090		30415781	1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.000	T	T	30415781	C	T	30415781	2	4	58	1	0	0	0	0	0	0	0	1	9983	697	25	3		3	MTMR3	22	30415781	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	226432	30415781	20888785	2241	16624											
SEC14L2	23541	genome.wustl.edu	37	chr22	30812026	30812026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgcagatttcccgtggCtcctcccaccaagtggagta	8	9	11	13	2	0	1	0	0	0	1	3	2	3	2	4	2	2	3	4	2	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30812026C>T	ENST00000312932.9	+	10	1121	c.861C>T	c.(859-861)ggC>ggT	p.G287G	RP4-539M6.19_ENST00000439838.1_Silent_p.G121G|SEC14L2_ENST00000402592.3_Silent_p.G204G|SEC14L2_ENST00000403484.1_Silent_p.G213G|SEC14L2_ENST00000405717.3_Silent_p.G287G	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	287	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTTCCCGTGGCTCCTCCCACC	0.547																																																	0													98	90	93					22																	30812026		2203	4300	6503	SO:0001819	synonymous_variant	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.861C>T	22.37:g.30812026C>T			B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.G287	ENST00000312932.9	37	c.861	CCDS13876.1	22																																																																																			SEC14L2	-	superfamily_GOLD,pfscan_GOLD	ENSG00000100003		0.547	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	-	0	44	0	C	NM_012429		30812026	1	tier1	-	no_errors	ENST00000312932	ensembl	human	known	74_37	silent	25.37	50	17	SNP	1.000	T	T	30812026	C	T	30812026	2	4	58	1	0	0	0	0	0	0	0	1	14027	784	28	3		3	SEC14L2	22	30812026	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	396245	30812026	20492540	2242	16625											
GAL3ST1	9514	genome.wustl.edu	37	chr22	30951276	30951276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgcgccagaagctggcGttgaagtggcggtagaggtg	8	8	17	8	3	0	3	0	1	0	2	0	3	0	3	2	4	2	3	2	4	3	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30951276G>A	ENST00000402321.1	-	3	1253	c.936C>T	c.(934-936)aaC>aaT	p.N312N	GAL3ST1_ENST00000402369.1_Silent_p.N312N|GAL3ST1_ENST00000406955.1_Silent_p.N312N|GAL3ST1_ENST00000443111.2_Silent_p.N312N|GAL3ST1_ENST00000406361.1_Silent_p.N312N|GAL3ST1_ENST00000338911.5_Silent_p.N312N|GAL3ST1_ENST00000401975.1_Silent_p.N312N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	312					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGAAGCTGGCGTTGAAGTGGC	0.716																																																	0													17	20	19					22																	30951276		2197	4290	6487	SO:0001819	synonymous_variant	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.936C>T	22.37:g.30951276G>A			Q96C63	Silent	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.N312	ENST00000402321.1	37	c.936	CCDS13879.1	22																																																																																			GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000128242		0.716	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	-	0	96	0	G	NM_004861		30951276	-1	tier1	-	no_errors	ENST00000338911	ensembl	human	known	74_37	silent	32.05	51	25	SNP	1.000	A	A	30951276	G	A	30951276	2	1	58	1	0	0	0	0	0	0	0	1	6222	1136	40	1		1	GAL3ST1	22	30951276	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	139250	30951276	20353290	2243	16626											
GAL3ST1	9514	genome.wustl.edu	37	chr22	30953322	30953322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaactagtgaagagcgCgcccagcaccagccccttag	12	4	11	14	2	0	2	0	1	0	1	0	3	0	3	4	1	4	1	4	1	4	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30953322C>T	ENST00000402321.1	-	2	375	c.58G>A	c.(58-60)Gcg>Acg	p.A20T	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A20T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A20T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A20T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A20T|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A20T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A20T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	20					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GTGAAGAGCGCGCCCAGCACC	0.637																																																	0													89	94	92					22																	30953322		2203	4300	6503	SO:0001583	missense	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.58G>A	22.37:g.30953322C>T	ENSP00000385735:p.Ala20Thr		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.A20T	ENST00000402321.1	37	c.58	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889973	0.33348	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821;ENST00000445645;ENST00000448604	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.76	4.67	0.58626	.	0.318689	0.34046	N	0.004319	T	0.07369	0.0186	N	0.12471	0.22	0.21762	N	0.999555	B	0.24882	0.113	B	0.17722	0.019	T	0.32613	-0.9900	10	0.15952	T	0.53	-16.468	5.405	0.16316	0.1909:0.632:0.0:0.1772	.	20	Q99999	G3ST1_HUMAN	T	20	ENSP00000385825:A20T;ENSP00000385735:A20T;ENSP00000384122:A20T;ENSP00000384388:A20T;ENSP00000343234:A20T;ENSP00000385207:A20T;ENSP00000402587:A20T;ENSP00000390545:A20T;ENSP00000395080:A20T;ENSP00000405017:A20T;ENSP00000401426:A20T;ENSP00000391485:A20T;ENSP00000397092:A20T;ENSP00000391996:A20T;ENSP00000405381:A20T;ENSP00000401074:A20T;ENSP00000389876:A20T;ENSP00000398380:A20T;ENSP00000414542:A20T;ENSP00000412995:A20T;ENSP00000394912:A20T;ENSP00000399649:A20T;ENSP00000390068:A20T	ENSP00000343234:A20T	A	-	1	0	GAL3ST1	29283322	0.982000	0.34865	0.856000	0.33681	0.952000	0.60782	2.468000	0.45102	2.714000	0.92807	0.655000	0.94253	GCG	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000128242		0.637	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	-	0	45	0	C	NM_004861		30953322	-1	tier1	-	no_errors	ENST00000338911	ensembl	human	known	74_37	missense	50.00	8	8	SNP	0.021	T	T	30953322	C	T	30953322	3	4	58	1	0	0	0	0	1	0	0	0	6222	768	27	1	1221	1	GAL3ST1	22	30953322	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	2046	30953322	20351244	2244	16627											
SFI1	9814	genome.wustl.edu	37	chr22	31981087	31981087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaaatgtatcgaattgtgGctacagtatactcagaagag	14	11	10	6	1	1	2	1	0	0	2	2	3	1	2	0	1	3	4	0	1	7	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:31981087G>T	ENST00000400288.2	+	14	1485	c.1380G>T	c.(1378-1380)tgG>tgT	p.W460C	SFI1_ENST00000443326.1_Missense_Mutation_p.W378C|SFI1_ENST00000540643.1_Missense_Mutation_p.W405C|SFI1_ENST00000414585.1_Missense_Mutation_p.W307C|SFI1_ENST00000432498.1_Missense_Mutation_p.W429C|SFI1_ENST00000400289.1_Missense_Mutation_p.W378C|SFI1_ENST00000443011.1_Missense_Mutation_p.W307C	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	460					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCGAATTGTGGCTACAGTATA	0.388																																																	0													103	96	98					22																	31981087		1850	4092	5942	SO:0001583	missense	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1380G>T	22.37:g.31981087G>T	ENSP00000383145:p.Trp460Cys		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.W460C	ENST00000400288.2	37	c.1380	CCDS43004.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.73|18.73	3.685391|3.685391	0.68157|0.68157	.|.	.|.	ENSG00000198089|ENSG00000198089	ENST00000425671|ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	.|T;T;T;T;T;T;T;T	.|0.21932	.|2.54;2.46;2.34;2.44;2.59;2.34;2.59;1.98	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.133152	.|0.53938	.|D	.|0.000046	T|T	0.27697|0.27697	0.0681|0.0681	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.998;1.0;0.999;1.0	T|T	0.27806|0.27806	-1.0063|-1.0063	5|10	.|0.87932	.|D	.|0	.|.	15.2575|15.2575	0.73596|0.73596	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|405;378;378;429;460;436	.|A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.|.;.;.;.;SFI1_HUMAN;.	V|C	34|429;405;378;436;307;307;378;460;75	.|ENSP00000402679:W429C;ENSP00000443025:W405C;ENSP00000416469:W378C;ENSP00000397148:W307C;ENSP00000401199:W307C;ENSP00000383146:W378C;ENSP00000383145:W460C;ENSP00000398871:W75C	.|ENSP00000383145:W460C	G|W	+|+	2|3	0|0	SFI1|SFI1	30311087|30311087	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.049000|0.049000	0.14656|0.14656	4.623000|4.623000	0.61247|0.61247	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GGC|TGG	SFI1	-	NULL	ENSG00000198089		0.388	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	-	0	100	0	G	NM_014775		31981087	1	tier1	-	no_errors	ENST00000400288	ensembl	human	known	74_37	missense	5.71	99	6	SNP	0.979	T	T	31981087	G	T	31981087	3	4	58	1	0	0	0	0	1	0	0	0	14201	1212	42	3	1430	3	SFI1	22	31981087	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1027765	31981087	19323479	2245	16628											
SLC5A4	6527	genome.wustl.edu	37	chr22	32625212	32625212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctctttctccgacgCttgcttccgcatcttggtgt	4	14	10	13	3	3	0	0	0	3	0	5	2	4	1	2	2	2	4	2	2	0	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32625212C>A	ENST00000266086.4	-	11	1260	c.1249G>T	c.(1249-1251)Gcg>Tcg	p.A417S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	417					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTCCGACGCTTGCTTCCGC	0.537																																																	0													175	166	169					22																	32625212		2203	4300	6503	SO:0001583	missense	0			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"Solute carriers"	11039	protein-coding gene	gene with protein product			"solute carrier family 5 (low affinity glucose cotransporter), member 4"			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1249G>T	22.37:g.32625212C>A	ENSP00000266086:p.Ala417Ser		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A417S	ENST00000266086.4	37	c.1249	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341929	0.61073	.	.	ENSG00000100191	ENST00000266086	D	0.89050	-2.46	4.55	4.55	0.56014	.	0.048936	0.85682	D	0.000000	D	0.92031	0.7475	M	0.81942	2.565	0.80722	D	1	P	0.40230	0.708	P	0.49477	0.612	D	0.91719	0.5387	10	0.41790	T	0.15	.	15.1699	0.72862	0.0:1.0:0.0:0.0	.	417	Q9NY91	SC5A4_HUMAN	S	417	ENSP00000266086:A417S	ENSP00000266086:A417S	A	-	1	0	SLC5A4	30955212	1.000000	0.71417	0.853000	0.33588	0.209000	0.24338	5.981000	0.70524	2.517000	0.84864	0.655000	0.94253	GCG	SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000100191		0.537	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	-	0	108	0	C	NM_014227		32625212	-1	tier1	-	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	35.85	68	38	SNP	0.999	A	A	32625212	C	A	32625212	3	1	58	1	0	0	0	0	1	0	0	0	14712	797	28	3	750	3	SLC5A4	22	32625212	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	644125	32625212	18679354	2246	16629											
C22orf28	51493	genome.wustl.edu	37	chr22	32793997	32793997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacacctgtcccttatggtCgatgcccatttttttagcag	8	14	7	12	1	0	0	0	0	0	0	2	1	1	0	3	1	2	1	3	1	2	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32793997C>T	ENST00000216038.5	-	7	843	c.745G>A	c.(745-747)Gac>Aac	p.D249N	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CCCTTATGGTCGATGCCCATT	0.463																																																	0													188	150	163					22																	32793997		2203	4300	6503	SO:0001583	missense	0			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"focal adhesion-associated protein"	613901	"chromosome 22 open reading frame 28"	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.745G>A	22.37:g.32793997C>T	ENSP00000216038:p.Asp249Asn			Missense_Mutation	SNP	pfam_RtcB,superfamily_RtcB	p.D249N	ENST00000216038.5	37	c.745	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282858	0.80692	.	.	ENSG00000100220	ENST00000216038	T	0.32515	1.45	6.06	6.06	0.98353	.	0.085245	0.85682	D	0.000000	T	0.32346	0.0826	L	0.42744	1.35	0.80722	D	1	B	0.15930	0.015	B	0.15870	0.014	T	0.02632	-1.1131	10	0.38643	T	0.18	-21.4754	20.6397	0.99537	0.0:1.0:0.0:0.0	.	249	Q9Y3I0	RTCB_HUMAN	N	249	ENSP00000216038:D249N	ENSP00000216038:D249N	D	-	1	0	C22orf28	31123997	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.779000	0.85648	2.880000	0.98712	0.650000	0.86243	GAC	RTCB	-	pfam_RtcB,superfamily_RtcB	ENSG00000100220		0.463	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCB	HGNC	protein_coding	OTTHUMT00000075188.3	-	0	98	0	C	NM_014306		32793997	-1	tier1	-	no_errors	ENST00000216038	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	T	T	32793997	C	T	32793997	3	4	58	1	0	0	0	0	1	0	0	0	2147	884	31	1	796	1	C22orf28	22	32793997	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	168785	32793997	18510569	2247	16630											
SYN3	8224	genome.wustl.edu	37	chr22	32924884	32924884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgaggggggagggcgCtgtgcctcctggcatcggga	5	7	20	9	2	1	1	0	1	1	0	3	3	2	3	2	7	1	2	2	7	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32924884C>A	ENST00000358763.2	-	11	1449	c.1207G>T	c.(1207-1209)Gcg>Tcg	p.A403S	SYN3_ENST00000332840.5_Missense_Mutation_p.A403S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	403	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGGAGGGCGCTGTGCCTCCT	0.562											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	54	58					22																	32924884		2203	4300	6503	SO:0001583	missense	0			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1207G>T	22.37:g.32924884C>A	ENSP00000351614:p.Ala403Ser	836	B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin	p.A403S	ENST00000358763.2	37	c.1207	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	8.493	0.862556	0.17178	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154;ENST00000390686	T;T	0.29142	1.58;1.58	5.15	4.14	0.48551	.	1.068870	0.07235	N	0.863331	T	0.16300	0.0392	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31024	-0.9958	10	0.16420	T	0.52	-0.0306	4.6131	0.12413	0.1763:0.648:0.0:0.1757	.	402;403;403	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	S	403;403;37;403	ENSP00000351614:A403S;ENSP00000330219:A403S	ENSP00000330219:A403S	A	-	1	0	SYN3	31254884	0.019000	0.18553	0.831000	0.32960	0.574000	0.36063	1.168000	0.31859	1.404000	0.46819	0.563000	0.77884	GCG	SYN3	-	NULL	ENSG00000185666		0.562	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	-	0	13	0	C			32924884	-1	tier1	-	no_errors	ENST00000332840	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.360	A	A	32924884	C	A	32924884	3	1	58	1	0	0	0	0	1	0	0	0	15489	797	28	3	551	3	SYN3	22	32924884	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	130887	32924884	18379682	2248	16631											
HMOX1	3162	genome.wustl.edu	37	chr22	35782901	35782901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctccacgaggtggggcGcacagagcccgagctgctgg	6	4	18	13	4	0	1	0	0	0	1	1	3	1	1	2	5	3	4	2	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:35782901G>A	ENST00000216117.8	+	3	707	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	123					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GAGGTGGGGCGCACAGAGCCC	0.657																																																	0													39	44	42					22																	35782901		2203	4300	6503	SO:0001583	missense	0				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.368G>A	22.37:g.35782901G>A	ENSP00000216117:p.Arg123His			Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.R123H	ENST00000216117.8	37	c.368	CCDS13914.1	22	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194386	0.22037	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.24538	1.85;1.85	5.8	-3.01	0.05463	Haem oxygenase-like, multi-helical (2);	0.546000	0.20571	N	0.089734	T	0.22205	0.0535	M	0.73962	2.25	0.09310	N	1	B	0.18610	0.029	B	0.16289	0.015	T	0.21177	-1.0253	10	0.54805	T	0.06	-3.8131	5.3406	0.15981	0.5024:0.0:0.2699:0.2277	.	123	P09601	HMOX1_HUMAN	H	123	ENSP00000413316:R123H;ENSP00000216117:R123H	ENSP00000216117:R123H	R	+	2	0	HMOX1	34112901	0.004000	0.15560	0.006000	0.13384	0.024000	0.10985	0.327000	0.19663	-0.373000	0.07979	-0.137000	0.14449	CGC	HMOX1	-	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase	ENSG00000100292		0.657	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX1	HGNC	protein_coding	OTTHUMT00000320657.1	-	0	53	0	G			35782901	1	tier1	-	no_errors	ENST00000216117	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.000	A	A	35782901	G	A	35782901	3	1	58	1	0	0	0	0	1	0	0	0	7270	1087	38	1	378	1	HMOX1	22	35782901	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2858017	35782901	15521665	2249	16632											
CSF2RB	1439	genome.wustl.edu	37	chr22	37328884	37328884	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggaaacaatgaaaatgCgatacgaacacatagaccac	18	5	9	9	2	0	2	0	1	0	1	0	5	0	3	1	1	4	1	1	1	7	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:37328884C>T	ENST00000403662.3	+	9	1312	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	CSF2RB_ENST00000262825.5_Nonsense_Mutation_p.R370*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.R311*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.R370*			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	364	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AATGAAAATGCGATACGAACA	0.557																																																	0													133	97	109					22																	37328884		2203	4300	6503	SO:0001587	stop_gained	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1090C>T	22.37:g.37328884C>T	ENSP00000384053:p.Arg364*		Q5JZI1|Q6ICE0	Nonsense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R370*	ENST00000403662.3	37	c.1108	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096061	0.56075	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	.	.	.	4.71	-9.42	0.00610	.	4.772160	0.00424	N	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	3.3602	1.4823	0.02439	0.3773:0.2296:0.2725:0.1206	.	.	.	.	X	364;364;370;370;311	.	ENSP00000262825:R370X	R	+	1	2	CSF2RB	35658830	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.477000	0.00985	-3.262000	0.00201	0.511000	0.50034	CGA	CSF2RB	-	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000100368		0.557	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	-	0	44	0	C	NM_000395		37328884	1	tier1	-	no_errors	ENST00000262825	ensembl	human	known	74_37	nonsense	50.00	19	19	SNP	0.000	T	T	37328884	C	T	37328884	4	4	58	1	0	0	0	0	0	1	0	0	3944	760	27	1	1120	1	CSF2RB	22	37328884	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1545983	37328884	13975682	2250	16633											
SH3BP1	23616	genome.wustl.edu	37	chr22	38046679	38046679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaccccggctccggctccGgctccagctccagctccggc	4	5	10	22	4	0	0	0	0	0	0	5	0	5	0	8	4	2	5	8	4	0	0	rs139958398	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38046679G>A	ENST00000357436.4	+	16	1858	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Silent_p.P451P	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	515					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ctccggctccggctccagctc	0.637													G|||	2	0.000399361	0.0015	0	5008	,	,		14443	0		0	False		,,,				2504	0																0								G		3,4403	6.2+/-15.9	0,3,2200	27	30	29		1545	-7.1	0	22	dbSNP_134	29	0,8600		0,0,4300	no	coding-synonymous	SH3BP1	NM_018957.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		515/702	38046679	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1545G>A	22.37:g.38046679G>A			Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P515	ENST00000357436.4	37	c.1545	CCDS13952.2	22																																																																																			SH3BP1	-	NULL	ENSG00000100092		0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4	-	0	93	0	G	NM_018957		38046679	1	tier1	rs139958398	no_errors	ENST00000357436	ensembl	human	known	74_37	silent	32.47	52	25	SNP	0.000	A	A	38046679	G	A	38046679	2	1	58	1	0	0	0	0	0	0	0	1	14289	1103	39	1		1	SH3BP1	22	38046679	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	717795	38046679	13257887	2251	16634											
TRIOBP	11078	genome.wustl.edu	37	chr22	38130773	38130773	+	Frame_Shift_Del	DEL	G	G	-																															caaagccccggagggagcatGggggggcacttccagggagt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38130773delG	ENST00000406386.3	+	9	4685	c.4430delG	c.(4429-4431)tggfs	p.W1477fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1477					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGGGAGCATGGGGGGGCACT	0.667																																																	0													10	12	11					22																	38130773		1748	3906	5654	SO:0001589	frameshift_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4430delG	22.37:g.38130773delG	ENSP00000384312:p.Trp1477fs		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G1479fs	ENST00000406386.3	37	c.4430	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2		0	48	0	G			38130773	1	tier1		no_errors	ENST00000406386	ensembl	human	known	74_37	frame_shift_del	43.24	21	16	DEL	0.003	-	-	38130773	G	-	38130773	7	5	58	1	0	1	0	1	0	0	0	0	16601	1357	47	0	4456	0	TRIOBP	22	38130773	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	84094	38130773	13173793	2252	16635											
PLA2G6	8398	genome.wustl.edu	37	chr22	38541585	38541585	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgaggggagctctcAtagaagggtagcagctggga	11	6	17	7	0	1	2	1	1	1	1	2	5	1	5	1	5	3	4	1	5	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38541585A>G	ENST00000332509.3	-	3	468	c.285T>C	c.(283-285)taT>taC	p.Y95Y	PLA2G6_ENST00000436218.1_Silent_p.Y95Y|PLA2G6_ENST00000335539.3_Silent_p.Y95Y|PLA2G6_ENST00000447598.2_3'UTR|PLA2G6_ENST00000402064.1_Silent_p.Y95Y	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	95					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGAGCTCTCATAGAAGGGTA	0.582																																																	0													53	50	51					22																	38541585		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"Patatin-like phospholipase domain containing", "Parkinson disease", "Ankyrin repeat domain containing"	9039	protein-coding gene	gene with protein product	"neurodegeneration with brain iron accumulation 2"	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.285T>C	22.37:g.38541585A>G			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y95	ENST00000332509.3	37	c.285	CCDS13967.1	22																																																																																			PLA2G6	-	NULL	ENSG00000184381		0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	-	0	39	0	A	NM_001004426		38541585	-1	tier1	-	no_errors	ENST00000332509	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.948	G	G	38541585	A	G	38541585	2	3	58	1	0	0	0	0	0	0	0	1	12047	224	8	4		4	PLA2G6	22	38541585	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	410812	38541585	12762981	2253	16636											
DMC1	11144	genome.wustl.edu	37	chr22	38962674	38962674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgcatagagctcttcttGttgtcatctgtatacctttg	7	18	7	9	0	4	1	1	0	3	1	4	1	4	1	1	0	3	4	1	0	3	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38962674G>A	ENST00000216024.2	-	4	440	c.164C>T	c.(163-165)aCa>aTa	p.T55I	DMC1_ENST00000464842.1_5'Flank|DMC1_ENST00000428462.2_Missense_Mutation_p.T55I	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	55					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AGCTCTTCTTGTTGTCATCTG	0.383								Homologous recombination																																									0													151	124	133					22																	38962674		2203	4300	6503	SO:0001583	missense	0			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination", "DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.164C>T	22.37:g.38962674G>A	ENSP00000216024:p.Thr55Ile		A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase	p.T55I	ENST00000216024.2	37	c.164	CCDS13973.1	22	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595476	0.66219	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.55	5.55	0.83447	DNA repair Rad51/transcription factor NusA, alpha-helical (1);	0.046705	0.85682	D	0.000000	T	0.48696	0.1514	M	0.79011	2.435	0.80722	D	1	B;P;B	0.37573	0.109;0.6;0.179	B;B;B	0.34346	0.112;0.18;0.159	T	0.55811	-0.8082	10	0.62326	D	0.03	-2.8921	19.6982	0.96039	0.0:0.0:1.0:0.0	.	55;55;55	B4DMW6;Q8IYL1;Q14565	.;.;DMC1_HUMAN	I	55	ENSP00000216024:T55I;ENSP00000412703:T55I;ENSP00000391385:T55I;ENSP00000410808:T55I	ENSP00000216024:T55I	T	-	2	0	DMC1	37292620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.894000	0.99253	0.655000	0.94253	ACA	DMC1	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DMC1_rcmbase	ENSG00000100206		0.383	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2	-	0	87	0	G	NM_007068		38962674	-1	tier1	-	no_errors	ENST00000216024	ensembl	human	known	74_37	missense	35.21	46	25	SNP	1.000	A	A	38962674	G	A	38962674	3	1	58	1	0	0	0	0	1	0	0	0	4593	1377	48	3	902	3	DMC1	22	38962674	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	421089	38962674	12341892	2254	16637											
SUN2	25777	genome.wustl.edu	37	chr22	39138454	39138454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgccgcagctccagaCgttccagccgcatggcctcc	5	7	9	20	3	0	1	0	0	0	1	3	1	3	1	8	1	3	4	8	1	0	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:39138454C>T	ENST00000405510.1	-	10	1278	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.R328H|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.R307H|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R296H|SUN2_ENST00000406622.1_Missense_Mutation_p.R307H	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	307					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CAGCTCCAGACGTTCCAGCCG	0.642																																																	0													30	31	30					22																	39138454		2203	4300	6503	SO:0001583	missense	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"unc-84 homolog B (C. elegans)"	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.920G>A	22.37:g.39138454C>T	ENSP00000385740:p.Arg307His		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.R307H	ENST00000405510.1	37	c.920	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	C	9.146	1.015014	0.19355	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.12569	2.68;2.68;2.67;2.68;2.68	5.24	4.21	0.49690	.	0.274658	0.30639	N	0.009194	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B;B;P;P;P	0.41366	0.086;0.449;0.665;0.747;0.665	B;B;B;B;B	0.27608	0.013;0.04;0.044;0.081;0.044	T	0.34551	-0.9824	10	0.14252	T	0.57	-22.6305	6.2359	0.20762	0.1498:0.6956:0.0:0.1546	.	296;342;307;328;307	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	H	307;307;328;307;296	ENSP00000385740:R307H;ENSP00000216064:R307H;ENSP00000385616:R328H;ENSP00000383992:R307H;ENSP00000395601:R296H	ENSP00000216064:R307H	R	-	2	0	SUN2	37468400	0.009000	0.17119	0.290000	0.24890	0.167000	0.22549	0.888000	0.28268	2.451000	0.82905	0.555000	0.69702	CGT	SUN2	-	NULL	ENSG00000100242		0.642	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	-	0	43	0	C	XM_039332		39138454	-1	tier1	-	no_errors	ENST00000216064	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.077	T	T	39138454	C	T	39138454	3	4	58	1	0	0	0	0	1	0	0	0	15439	536	19	1	1273	1	SUN2	22	39138454	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	175780	39138454	12166112	2255	16638											
CBX6	23466	genome.wustl.edu	37	chr22	39263028	39263028	+	Frame_Shift_Del	DEL	C	C	-																															gcgggcgcagtccggggctgCccccctgcgggtccgggcgg																								rs377721533		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:39263028delC	ENST00000407418.3	-	5	548	c.425delG	c.(424-426)ggcfs	p.G142fs	CBX6_ENST00000216083.6_Frame_Shift_Del_p.G124fs			O95503	CBX6_HUMAN	chromobox homolog 6	142					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TCCGGGGCTGCCCCCCTGCGG	0.701																																																	0													8	9	8					22																	39263028		2068	4089	6157	SO:0001589	frameshift_variant	0				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.425delG	22.37:g.39263028delC	ENSP00000384490:p.Gly142fs		A8KAH0|Q96EM5	Frame_Shift_Del	DEL	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.G142fs	ENST00000407418.3	37	c.425	CCDS13980.1	22																																																																																			CBX6	-	NULL	ENSG00000183741		0.701	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1		0	33	0	C	NM_014292		39263028	-1	tier1		no_errors	ENST00000407418	ensembl	human	known	74_37	frame_shift_del	38.46	16	10	DEL	1.000	-	-	39263028	C	-	39263028	7	5	58	1	0	1	0	1	0	0	0	0	2729	739	26	0	817	0	CBX6	22	39263028	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	124574	39263028	12041538	2256	16639											
APOBEC3D	140564	genome.wustl.edu	37	chr22	39421260	39421260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccctgaccatctctgcCgcccgcctctactactaccg	6	9	6	20	3	3	1	1	1	2	0	4	1	3	1	6	0	4	0	6	0	3	3	rs368364402		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:39421260C>T	ENST00000216099.8	+	3	803	c.396C>T	c.(394-396)gcC>gcT	p.A132A	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.A132A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	132					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CCATCTCTGCCGCCCGCCTCT	0.562																																																	0													67	69	69					22																	39421260		2203	4300	6503	SO:0001819	synonymous_variant	0			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"Apolipoprotein B mRNA editing enzymes"	17354	protein-coding gene	gene with protein product		609900	"apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)", "apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.396C>T	22.37:g.39421260C>T			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.A132	ENST00000216099.8	37	c.396	CCDS46709.1	22																																																																																			APOBEC3D	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like	ENSG00000243811		0.562	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	-	0	66	0	C	NM_152426		39421260	1	tier1	-	no_errors	ENST00000216099	ensembl	human	known	74_37	silent	42.03	39	29	SNP	0.032	T	T	39421260	C	T	39421260	2	4	58	1	0	0	0	0	0	0	0	1	792	639	23	1		1	APOBEC3D	22	39421260	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	158232	39421260	11883306	2257	16640											
MKL1	57591	genome.wustl.edu	37	chr22	40807711	40807711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgtcatgcccactggtcaGcaggggcagccccgtgctgc	5	6	13	17	2	2	0	2	0	0	0	2	0	2	0	4	3	5	3	4	3	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:40807711G>T	ENST00000355630.3	-	15	3069	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M	MKL1_ENST00000402042.1_Missense_Mutation_p.L777M|MKL1_ENST00000396617.3_3'UTR|MKL1_ENST00000407029.1_Missense_Mutation_p.L827M	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	827					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCACTGGTCAGCAGGGGCAGC	0.667			T	RBM15	acute megakaryocytic leukemia																																			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													45	45	45					22																	40807711		2203	4300	6503	SO:0001583	missense	0			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"megakaryocytic acute leukemia", "myocardin-related transcription factor A", "basic, SAP and coiled-coil domain"	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2479C>A	22.37:g.40807711G>T	ENSP00000347847:p.Leu827Met		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L827M	ENST00000355630.3	37	c.2479	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001896	0.35320	.	.	ENSG00000196588	ENST00000355630;ENST00000402042;ENST00000407029	T;T;T	0.55930	0.49;0.49;0.49	4.36	2.22	0.28083	.	0.260199	0.31897	N	0.006893	T	0.66046	0.2750	M	0.67397	2.05	0.80722	D	1	P;D	0.76494	0.524;0.999	B;D	0.83275	0.051;0.996	T	0.65681	-0.6109	10	0.72032	D	0.01	-14.3972	8.8922	0.35441	0.0789:0.0:0.772:0.149	.	777;827	B0QY83;Q969V6	.;MKL1_HUMAN	M	827;777;827	ENSP00000347847:L827M;ENSP00000385584:L777M;ENSP00000385835:L827M	ENSP00000347847:L827M	L	-	1	2	MKL1	39137657	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	5.134000	0.64770	0.572000	0.29383	-0.314000	0.08810	CTG	MKL1	-	NULL	ENSG00000196588		0.667	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	-	0	44	0	G	NM_020831		40807711	-1	tier1	-	no_errors	ENST00000355630	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	40807711	G	T	40807711	3	4	58	1	0	0	0	0	1	0	0	0	9639	962	34	3	320	3	MKL1	22	40807711	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1386451	40807711	10496855	2258	16641											
EP300	2033	genome.wustl.edu	37	chr22	41574679	41574679	+	Frame_Shift_Del	DEL	C	C	-																															ctccacggccacagtcccagCccccccactccagtccttcc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:41574679delC	ENST00000263253.7	+	31	8183	c.6964delC	c.(6964-6966)cccfs	p.P2323fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2323					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACAGTCCCAGCCCCCCCACTC	0.612			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													87	91	90					22																	41574679		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6964delC	22.37:g.41574679delC	ENSP00000263253:p.Pro2323fs		B1AKC2	Frame_Shift_Del	DEL	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.H2324fs	ENST00000263253.7	37	c.6964	CCDS14010.1	22																																																																																			EP300	-	NULL	ENSG00000100393		0.612	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1		0	50	0	C	NM_001429		41574679	1	tier1		no_errors	ENST00000263253	ensembl	human	known	74_37	frame_shift_del	36.00	16	9	DEL	1.000	-	-	41574679	C	-	41574679	7	5	58	1	0	1	0	1	0	0	0	0	5164	739	26	0	7086	0	EP300	22	41574679	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	766968	41574679	9729887	2259	16642											
CYB5R3	1727	genome.wustl.edu	37	chr22	43040443	43040443	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccatcttgcttcaggcGttcgcatatgctctcctctc	6	13	7	15	2	4	0	1	0	3	0	7	0	4	0	2	1	3	4	2	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:43040443G>A	ENST00000352397.5	-	1	274				CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Missense_Mutation_p.R25C|CYB5R3_ENST00000402438.1_Intron	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3						blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	tgcttcaggcgttcgcatatg	0.522																																																	0													299	258	271					22																	43040443		692	1591	2283	SO:0001627	intron_variant	0			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"diaphorase (NADH) (cytochrome b-5 reductase)"	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.21+4857C>T	22.37:g.43040443G>A			B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.R25C	ENST00000352397.5	37	c.73	CCDS33658.1	22	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984651	0.18889	.	.	ENSG00000100243	ENST00000361740	D	0.89270	-2.49	2.66	1.57	0.23409	.	.	.	.	.	T	0.81278	0.4789	.	.	.	0.09310	N	1	P	0.35050	0.482	B	0.28638	0.092	T	0.71676	-0.4521	8	0.66056	D	0.02	.	7.5413	0.27740	0.0:0.6503:0.3497:0.0	.	25	B7Z7L3	.	C	25	ENSP00000354468:R25C	ENSP00000354468:R25C	R	-	1	0	CYB5R3	41370387	0.000000	0.05858	0.024000	0.17045	0.015000	0.08874	0.000000	0.12993	0.641000	0.30601	-0.300000	0.09419	CGC	CYB5R3	-	NULL	ENSG00000100243		0.522	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R3	HGNC	protein_coding	OTTHUMT00000320439.1	-	0	66	0	G			43040443	-1	tier1	-	no_errors	ENST00000361740	ensembl	human	known	74_37	missense	33.33	42	21	SNP	0.025	A	A	43040443	G	A	43040443	1	1	58	0	1	0	0	0	0	0	0	0	4137	1145	40	1		1	CYB5R3	22	43040443	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1465764	43040443	8264123	2260	16643											
PACSIN2	11252	genome.wustl.edu	37	chr22	43287045	43287045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccatcatctgcttgtGaaaggcttccttctgccagt	6	12	9	14	1	3	1	1	1	2	0	4	1	4	1	4	1	2	2	4	1	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:43287045G>T	ENST00000263246.3	-	4	562	c.361C>A	c.(361-363)Cac>Aac	p.H121N	PACSIN2_ENST00000407585.1_Missense_Mutation_p.H121N|PACSIN2_ENST00000402229.1_Missense_Mutation_p.H121N|PACSIN2_ENST00000403744.3_Missense_Mutation_p.H121N|PACSIN2_ENST00000337959.4_Missense_Mutation_p.H121N	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	121	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				ATCTGCTTGTGAAAGGCTTCC	0.552																																																	0													91	90	90					22																	43287045		2170	4295	6465	SO:0001583	missense	0			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"syndapin II"	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.361C>A	22.37:g.43287045G>T	ENSP00000263246:p.His121Asn		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.H121N	ENST00000263246.3	37	c.361	CCDS43023.1	22	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959199	0.92726	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.53206	1.32;1.35;1.35;1.32;1.32;0.63;0.63;0.63	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81716	-0.0806	10	0.62326	D	0.03	1.5696	17.9579	0.89075	0.0:0.0:1.0:0.0	.	121;121	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	N	121	ENSP00000263246:H121N;ENSP00000338379:H121N;ENSP00000385952:H121N;ENSP00000385372:H121N;ENSP00000385040:H121N;ENSP00000398573:H121N;ENSP00000396816:H121N;ENSP00000403435:H121N	ENSP00000263246:H121N	H	-	1	0	PACSIN2	41616989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.548000	0.98103	2.557000	0.86248	0.542000	0.68232	CAC	PACSIN2	-	NULL	ENSG00000100266		0.552	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN2	HGNC	protein_coding	OTTHUMT00000319665.1	-	0	104	0	G	NM_007229		43287045	-1	tier1	-	no_errors	ENST00000263246	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	43287045	G	T	43287045	3	4	58	1	0	0	0	0	1	0	0	0	11414	1290	45	3	1131	3	PACSIN2	22	43287045	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	246602	43287045	8017521	2261	16644											
PNPLA5	150379	genome.wustl.edu	37	chr22	44286964	44286964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgagctcatcgcaggtgGcgaagtcagtgaccaagaag	12	6	15	8	2	2	3	2	2	0	1	3	5	2	4	1	3	1	2	1	3	3	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:44286964G>T	ENST00000597664.1	-	2	533	c.404C>A	c.(403-405)gCc>gAc	p.A135D	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Missense_Mutation_p.A135D			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	135	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATCGCAGGTGGCGAAGTCAGT	0.667																																																	0													33	30	31					22																	44286964		2201	4299	6500	SO:0001583	missense	0			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"Patatin-like phospholipase domain containing"	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.404C>A	22.37:g.44286964G>T	ENSP00000471069:p.Ala135Asp		B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.A135D	ENST00000597664.1	37	c.404		22	.	.	.	.	.	.	.	.	.	.	G	4.537	0.099686	0.08681	.	.	ENSG00000100341	ENST00000216177;ENST00000438734	T;T	0.74737	-0.87;-0.87	4.92	3.87	0.44632	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.272226	0.30800	N	0.008860	T	0.50582	0.1624	N	0.12831	0.26	0.19575	N	0.999969	B	0.27286	0.174	B	0.24394	0.053	T	0.32534	-0.9903	10	0.07175	T	0.84	-35.8253	10.5531	0.45101	0.0:0.0:0.649:0.351	.	135	Q7Z6Z6	PLPL5_HUMAN	D	135	ENSP00000216177:A135D;ENSP00000405732:A135D	ENSP00000216177:A135D	A	-	2	0	PNPLA5	42618297	0.376000	0.25098	0.015000	0.15790	0.005000	0.04900	0.493000	0.22451	1.172000	0.42781	0.561000	0.74099	GCC	PNPLA5	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000100341		0.667	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	PNPLA5	HGNC	protein_coding	OTTHUMT00000075667.4	-	0	97	0	G	NM_138814		44286964	-1	tier1	-	no_errors	ENST00000216177	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.057	T	T	44286964	G	T	44286964	3	4	58	1	0	0	0	0	1	0	0	0	12207	1203	42	3	917	3	PNPLA5	22	44286964	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	999919	44286964	7017602	2262	16645											
PHF21B	112885	genome.wustl.edu	37	chr22	45289355	45289355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcggtctccaggaggccGctgtaggcagggttggctgt	5	9	16	11	2	1	0	0	0	1	0	3	1	1	1	3	6	0	5	3	6	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:45289355G>A	ENST00000313237.5	-	7	1092	c.942C>T	c.(940-942)agC>agT	p.S314S	PHF21B_ENST00000403565.1_Silent_p.S110S|PHF21B_ENST00000447824.3_Silent_p.S260S|PHF21B_ENST00000396103.3_Silent_p.S272S|PHF21B_ENST00000404079.2_Silent_p.S260S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	314							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCAGGAGGCCGCTGTAGGCAG	0.642																																																	0													106	80	89					22																	45289355		2203	4299	6502	SO:0001819	synonymous_variant	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.942C>T	22.37:g.45289355G>A			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S314	ENST00000313237.5	37	c.942	CCDS14061.1	22																																																																																			PHF21B	-	NULL	ENSG00000056487		0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0	38	0	G	NM_138415		45289355	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	silent	39.39	20	13	SNP	1.000	A	A	45289355	G	A	45289355	2	1	58	1	0	0	0	0	0	0	0	1	11873	1078	38	1		1	PHF21B	22	45289355	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1002391	45289355	6015211	2263	16646											
PHF21B	112885	genome.wustl.edu	37	chr22	45289398	45289398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttctcttccgctcctgtCgcttgctctggatttctgga	2	18	8	13	2	4	0	0	0	4	0	8	2	6	2	2	2	1	3	2	2	0	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:45289398C>T	ENST00000313237.5	-	7	1049	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	PHF21B_ENST00000403565.1_Missense_Mutation_p.R96Q|PHF21B_ENST00000447824.3_Missense_Mutation_p.R246Q|PHF21B_ENST00000396103.3_Missense_Mutation_p.R258Q|PHF21B_ENST00000404079.2_Missense_Mutation_p.R246Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	300							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCGCTCCTGTCGCTTGCTCTG	0.632																																																	0													131	93	106					22																	45289398		2203	4300	6503	SO:0001583	missense	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.899G>A	22.37:g.45289398C>T	ENSP00000324403:p.Arg300Gln		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R300Q	ENST00000313237.5	37	c.899	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.158271	0.94686	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000009	T	0.73481	0.3592	L	0.57536	1.79	0.53005	D	0.999967	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.997;0.997;0.996	T	0.75966	-0.3131	10	0.59425	D	0.04	-13.1573	18.076	0.89427	0.0:1.0:0.0:0.0	.	246;258;246;300;96	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	Q	96;300;258;246;246;96	ENSP00000385053:R96Q;ENSP00000324403:R300Q;ENSP00000379410:R258Q;ENSP00000385105:R246Q;ENSP00000388619:R246Q;ENSP00000401091:R96Q	ENSP00000324403:R300Q	R	-	2	0	PHF21B	43668062	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	7.054000	0.76649	2.330000	0.79161	0.655000	0.94253	CGA	PHF21B	-	NULL	ENSG00000056487		0.632	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0	51	0	C	NM_138415		45289398	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	T	T	45289398	C	T	45289398	3	4	58	1	0	0	0	0	1	0	0	0	11873	884	31	1	724	1	PHF21B	22	45289398	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	43	45289398	6015168	2264	16647											
WNT7B	7477	genome.wustl.edu	37	chr22	46327144	46327144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtagccctgcttctcgCggtcgcagccgcagttgctc	4	11	12	14	4	1	0	0	0	1	0	4	0	1	0	2	1	4	7	2	1	2	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:46327144C>T	ENST00000339464.4	-	3	778	c.404G>A	c.(403-405)cGc>cAc	p.R135H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R119H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R139H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R135H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	135					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCTTCTCGCGGTCGCAGCC	0.682																																																	0													45	44	44					22																	46327144		2203	4299	6502	SO:0001583	missense	0			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.404G>A	22.37:g.46327144C>T	ENSP00000341032:p.Arg135His		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R135H	ENST00000339464.4	37	c.404	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	c	10.18	1.279893	0.23392	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	3.21	2.19	0.27852	.	0.000000	0.64402	U	0.000001	T	0.68072	0.2961	L	0.46741	1.465	0.46823	D	0.999219	B;B	0.19073	0.019;0.033	B;B	0.24269	0.018;0.052	T	0.58612	-0.7606	10	0.25751	T	0.34	.	9.384	0.38331	0.0:0.8923:0.0:0.1077	.	139;135	A8K0G1;P56706	.;WNT7B_HUMAN	H	135;119;139;135	ENSP00000341032:R135H;ENSP00000386781:R119H;ENSP00000386546:R139H;ENSP00000387217:R135H	ENSP00000341032:R135H	R	-	2	0	WNT7B	44705808	0.997000	0.39634	0.801000	0.32222	0.026000	0.11368	3.626000	0.54245	0.565000	0.29255	0.306000	0.20318	CGC	WNT7B	-	pfam_Wnt,smart_Wnt,prints_Wnt7	ENSG00000188064		0.682	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	-	0	71	0	C	NM_058238		46327144	-1	tier1	-	no_errors	ENST00000339464	ensembl	human	known	74_37	missense	31.43	48	22	SNP	0.985	T	T	46327144	C	T	46327144	3	4	58	1	0	0	0	0	1	0	0	0	17444	768	27	1	653	1	WNT7B	22	46327144	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1037746	46327144	4977422	2265	16648											
PPARA	5465	genome.wustl.edu	37	chr22	46614298	46614298	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgggatgtcacacaacGgtaggtaaggtggccctgca	9	8	14	10	2	1	0	1	0	0	0	2	1	1	1	1	5	2	3	1	5	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:46614298G>T	ENST00000396000.2	+	5	773	c.508G>T	c.(508-510)Gcg>Tcg	p.A170S	PPARA_ENST00000402126.1_Splice_Site_p.A170S|PPARA_ENST00000407236.1_Splice_Site_p.A170S|PPARA_ENST00000434345.2_Splice_Site_p.A170S|PPARA_ENST00000262735.5_Splice_Site_p.A170S			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	170					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GTCACACAACGGTAGGTAAGG	0.478																																																	0													232	208	216					22																	46614298		2203	4300	6503	SO:0001630	splice_region_variant	0			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"Nuclear hormone receptors"	9232	protein-coding gene	gene with protein product		170998	"peroxisome proliferative activated receptor, alpha"	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.508+1G>T	22.37:g.46614298G>T			B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A170S	ENST00000396000.2	37	c.508	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.523772	0.96431	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.67	5.67	0.87782	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.000000	0.85682	D	0.000000	D	0.97371	0.9140	M	0.84773	2.715	0.80722	D	1	P;P	0.47962	0.903;0.903	P;P	0.50270	0.636;0.636	D	0.96877	0.9643	10	0.37606	T	0.19	.	18.7666	0.91876	0.0:0.0:1.0:0.0	.	170;170	F1D8S4;Q07869	.;PPARA_HUMAN	S	170	ENSP00000379322:A170S;ENSP00000262735:A170S;ENSP00000385523:A170S;ENSP00000385246:A170S;ENSP00000408149:A170S	ENSP00000262735:A170S	A	+	1	0	PPARA	44992962	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	9.632000	0.98428	2.658000	0.90341	0.591000	0.81541	GCG;GCG;GCG;GCG;GCC	PPARA	-	pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	ENSG00000186951		0.478	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	-	0	51	0	G	NM_001001928	Missense_Mutation	46614298	1	tier1	-	no_errors	ENST00000262735	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	T	T	46614298	G	T	46614298	5	4	58	1	0	0	0	0	0	0	1	0	12336	1130	39	2	518	2	PPARA	22	46614298	Splice_Site	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	287154	46614298	4690268	2266	16649											
CERK	64781	genome.wustl.edu	37	chr22	47095243	47095243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggcaagacccaaccaccGtttcttctcactgtccttga	8	12	6	15	1	3	2	1	1	3	1	5	2	4	2	4	1	1	2	4	1	2	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:47095243G>A	ENST00000216264.8	-	8	1022	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	CERK_ENST00000541677.1_Missense_Mutation_p.R106W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	304					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCAACCACCGTTTCTTCTCA	0.547																																																	0													232	168	189					22																	47095243		2203	4300	6503	SO:0001583	missense	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.910C>T	22.37:g.47095243G>A	ENSP00000216264:p.Arg304Trp		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.R304W	ENST00000216264.8	37	c.910	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	g	15.77	2.931753	0.52866	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.55930	0.49;0.49	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85054	0.0930	10	0.87932	D	0	-14.1435	17.0797	0.86595	0.0:0.0:1.0:0.0	.	304	Q8TCT0	CERK1_HUMAN	W	304;106	ENSP00000216264:R304W;ENSP00000438659:R106W	ENSP00000216264:R304W	R	-	1	2	CERK	45473907	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	4.443000	0.59994	2.370000	0.80446	0.655000	0.94253	CGG	CERK	-	NULL	ENSG00000100422		0.547	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	-	0	94	0	G	NM_022766		47095243	-1	tier1	-	no_errors	ENST00000216264	ensembl	human	known	74_37	missense	47.06	36	32	SNP	1.000	A	A	47095243	G	A	47095243	3	1	58	1	0	0	0	0	1	0	0	0	3274	1144	40	1	727	1	CERK	22	47095243	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	480945	47095243	4209323	2267	16650											
PLXNB2	23654	genome.wustl.edu	37	chr22	50721802	50721803	+	Frame_Shift_Del	DEL	CA	CA	-																															acattgggaggcgaacggccCagtttcccgaagacgtccac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50721802_50721803delCA	ENST00000449103.1	-	16	2782_2783	c.2642_2643delTG	c.(2641-2643)ctgfs	p.L881fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.L881fs|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	881	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGAACGGCCCAGTTTCCCGAA	0.678																																																	0																																										SO:0001589	frameshift_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2642_2643delTG	22.37:g.50721802_50721803delCA	ENSP00000409171:p.Leu881fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L881fs	ENST00000449103.1	37	c.2643_2642	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000196576		0.678	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	64	0	CA	NM_012401		50721803	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	47.83	24	22	DEL	0.009:0.280	-	-	50721803	CA	-	50721802	7	5	58	1	0	1	0	1	0	0	0	0	12163	581	21	0	2961	0	PLXNB2	22	50721802	Frame_Shift_Del	DEL	CA	TCGA-L5-A4OI-01A-11D-A27G-09	3626559	50721802	582764	2268	16651											
PLXNB2	23654	genome.wustl.edu	37	chr22	50728029	50728029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgcctgtgtaacaggCgttgcggttggcctccatct	4	11	14	12	3	1	0	0	0	1	0	2	0	2	0	4	4	3	3	4	4	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50728029C>T	ENST00000449103.1	-	3	1125	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A329T			O15031	PLXB2_HUMAN	plexin B2	329	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTAACAGGCGTTGCGGTTG	0.662																																																	0													37	47	44					22																	50728029		1983	4160	6143	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.985G>A	22.37:g.50728029C>T	ENSP00000409171:p.Ala329Thr		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A329T	ENST00000449103.1	37	c.985	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	0.466	-0.886643	0.02511	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.10382	2.88;2.88;2.88	4.75	-1.64	0.08318	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.988232	0.08234	N	0.977055	T	0.07188	0.0182	L	0.35542	1.07	0.09310	N	1	B	0.19200	0.034	B	0.18561	0.022	T	0.45906	-0.9229	10	0.14252	T	0.57	.	6.5096	0.22214	0.1199:0.5198:0.0:0.3602	.	329	O15031	PLXB2_HUMAN	T	329	ENSP00000409171:A329T;ENSP00000352288:A329T;ENSP00000392620:A329T	ENSP00000352288:A329T	A	-	1	0	PLXNB2	49070156	0.000000	0.05858	0.075000	0.20258	0.265000	0.26407	0.275000	0.18698	-0.055000	0.13244	-0.254000	0.11334	GCC	PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0	75	0	C	NM_012401		50728029	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	30.16	44	19	SNP	0.000	T	T	50728029	C	T	50728029	3	4	58	1	0	0	0	0	1	0	0	0	12163	768	27	1	4671	1	PLXNB2	22	50728029	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6227	50728029	576537	2269	16652											
FAM116B	414918	genome.wustl.edu	37	chr22	50751527	50751528	+	Frame_Shift_Ins	INS	-	-	G																															ctggctgaagggctggatctINSgggggggagtctgagagggg																								rs200103246	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50751527_50751528insG	ENST00000413817.3	-	17	1428_1429	c.1357_1358insC	c.(1357-1359)cagfs	p.Q453fs	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	453					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GGGCTGGATCTGGGGGGGAGTC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"DENN/MADD domain containing"	32690	protein-coding gene	gene with protein product			"family with sequence similarity 116, member B"	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1358dupC	22.37:g.50751534_50751534dupG	ENSP00000391524:p.Gln453fs		A6X8I5	Frame_Shift_Ins	INS	pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom	p.Q453fs	ENST00000413817.3	37	c.1358_1357	CCDS46732.1	22																																																																																			DENND6B	-	pfam_Afi1_N	ENSG00000205593		0.639	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6B	HGNC	protein_coding	OTTHUMT00000316845.3		0	54	0	-	NM_001001794		50751528	-1	tier1		no_errors	ENST00000413817	ensembl	human	known	74_37	frame_shift_ins	25.00	27	9	INS	1.000:1.000	G	G	50751528	-	G	50751527	7	5	58	1	0	1	1	0	0	0	0	0	5427	1580	55	0	415	0	FAM116B	22	50751527	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	23498	50751527	553039	2270	16653											
SAPS2	9701	genome.wustl.edu	37	chr22	50853069	50853069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatggacctgctgctgcGcctggtcagctgtgtggagc	4	11	15	11	1	1	0	1	0	0	0	1	2	1	2	2	3	5	4	2	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50853069G>A	ENST00000216061.5	+	6	873	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PPP6R2_ENST00000359139.3_Missense_Mutation_p.R168H|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R168H|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R168H			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	168						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTGCTGCTGCGCCTGGTCAGC	0.607																																																	0													83	73	76					22																	50853069		2203	4300	6503	SO:0001583	missense	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.503G>A	22.37:g.50853069G>A	ENSP00000216061:p.Arg168His		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.R168H	ENST00000216061.5	37	c.503		22	.	.	.	.	.	.	.	.	.	.	G	36	5.701356	0.96812	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.8	5.8	0.92144	.	0.046228	0.85682	N	0.000000	T	0.62732	0.2452	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.993;0.999;0.996	T	0.66984	-0.5785	10	0.87932	D	0	-33.7254	18.8306	0.92137	0.0:0.0:1.0:0.0	.	168;168;168;168;168	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	H	168	ENSP00000352051:R168H;ENSP00000379090:R168H;ENSP00000379093:R168H;ENSP00000216061:R168H	ENSP00000216061:R168H	R	+	2	0	PPP6R2	49199935	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.470000	0.97683	2.747000	0.94245	0.462000	0.41574	CGC	PPP6R2	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000100239		0.607	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	-	0	71	0	G	NM_014678		50853069	1	tier1	-	no_errors	ENST00000216061	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	A	A	50853069	G	A	50853069	3	1	58	1	0	0	0	0	1	0	0	0	13882	1087	38	1	513	1	SAPS2	22	50853069	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	101542	50853069	451497	2271	16654											
SBF1	6305	genome.wustl.edu	37	chr22	50900786	50900788	+	In_Frame_Del	DEL	CTT	CTT	-																															ctgaacaccgtgctctcctcCttctgcaccagctcctgctg																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50900786_50900788delCTT	ENST00000390679.3	-	19	2426_2428	c.2242_2244delAAG	c.(2242-2244)aagdel	p.K748del	SBF1_ENST00000348911.6_In_Frame_Del_p.K749del|SBF1_ENST00000380817.3_In_Frame_Del_p.K748del			O95248	MTMR5_HUMAN	SET binding factor 1	748					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTCCTCCTTCTGCACCAGC	0.626																																																	0																																										SO:0001651	inframe_deletion	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2242_2244delAAG	22.37:g.50900786_50900788delCTT	ENSP00000375097:p.Lys748del		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	In_Frame_Del	DEL	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.K748in_frame_del	ENST00000390679.3	37	c.2244_2242		22																																																																																			SBF1	-	pfam_SBF2	ENSG00000100241		0.626	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding			0	72	0	CTT			50900788	-1	tier1		no_errors	ENST00000380817	ensembl	human	known	74_37	in_frame_del	33.33	32	16	DEL	1.000:1.000:1.000	-	-	50900788	CTT	-	50900786	7	5	58	1	0	1	0	1	0	0	0	0	13903	680	24	0	3529	0	SBF1	22	50900786	In_Frame_Del	DEL	CTT	TCGA-L5-A4OI-01A-11D-A27G-09	47717	50900786	403780	2272	16655											
CPT1B	1375	genome.wustl.edu	37	chr22	51010669	51010669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggagcatctgcccacGcatgctctgcattgagaccc	8	9	11	13	1	2	2	0	2	2	1	2	4	2	3	2	1	4	4	2	1	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:51010669G>A	ENST00000360719.2	-	12	1558	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.A393V|CPT1B_ENST00000405237.3_Missense_Mutation_p.A474V|CPT1B_ENST00000312108.7_Missense_Mutation_p.A474V|CPT1B_ENST00000395650.2_Missense_Mutation_p.A474V|CPT1B_ENST00000457250.1_Missense_Mutation_p.A440V|CPT1B_ENST00000434492.2_Missense_Mutation_p.A271V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	474					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATCTGCCCACGCATGCTCTGC	0.532																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													80	73	75					22																	51010669		2203	4300	6503	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1421C>T	22.37:g.51010669G>A	ENSP00000353945:p.Ala474Val		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A474V	ENST00000360719.2	37	c.1421	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919279	0.73098	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;T;D;T;D	0.90385	-2.66;-2.66;-2.66;-1.49;-2.66;-1.49;-2.66	5.65	5.65	0.86999	.	0.234953	0.44688	D	0.000438	D	0.92476	0.7611	M	0.79258	2.445	0.44234	D	0.997077	D;P;P;P	0.53885	0.963;0.7;0.916;0.916	P;B;B;B	0.47673	0.554;0.39;0.39;0.39	D	0.93438	0.6791	10	0.87932	D	0	-11.775	17.2199	0.86954	0.0:0.0:1.0:0.0	.	393;440;271;474	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	474;474;474;440;393;271;474	ENSP00000385486:A474V;ENSP00000312189:A474V;ENSP00000353945:A474V;ENSP00000409342:A440V;ENSP00000414713:A393V;ENSP00000410966:A271V;ENSP00000379011:A474V	ENSP00000312189:A474V	A	-	2	0	CPT1B	49357535	1.000000	0.71417	0.920000	0.36463	0.404000	0.30871	7.493000	0.81493	2.667000	0.90743	0.561000	0.74099	GCG	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.532	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0	27	0	G	NM_152246		51010669	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.994	A	A	51010669	G	A	51010669	3	1	58	1	0	0	0	0	1	0	0	0	3839	1087	38	1	929	1	CPT1B	22	51010669	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	109883	51010669	293897	2273	16656											
SHANK3	85358	genome.wustl.edu	37	chr22	51160845	51160845	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggaccctgccaagaaGtcgcccatcgcagcagctcg	8	6	11	16	3	0	1	0	0	0	1	3	2	0	2	3	1	4	4	3	1	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:51160845G>C	ENST00000414786.2	+	21	4769	c.4542G>C	c.(4540-4542)aaG>aaC	p.K1514N	SHANK3_ENST00000262795.3_Missense_Mutation_p.K1544N|SHANK3_ENST00000445220.2_Missense_Mutation_p.K1530N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1528					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCCAAGAAGTCGCCCATCG	0.652																																																	0													22	25	24					22																	51160845		1934	3794	5728	SO:0001583	missense	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4542G>C	22.37:g.51160845G>C	ENSP00000464552:p.Lys1514Asn		D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.K1544N	ENST00000414786.2	37	c.4632		22	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347090	0.41599	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.49139	0.79;0.79	5.7	4.67	0.58626	.	0.296512	0.32503	N	0.006018	T	0.56673	0.2001	L	0.51914	1.62	0.25423	N	0.988251	D;D;D	0.76494	0.999;0.991;0.997	D;P;P	0.64144	0.922;0.831;0.879	T	0.49744	-0.8907	10	0.56958	D	0.05	.	9.3249	0.37986	0.1638:0.0:0.8362:0.0	.	1528;1529;1544	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	N	1544;1530	ENSP00000442518:K1544N;ENSP00000446078:K1530N	ENSP00000442518:K1544N	K	+	3	2	SHANK3	49507711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.161000	0.50747	2.702000	0.92279	0.563000	0.77884	AAG	SHANK3	-	NULL	ENSG00000251322		0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	-	0	10	0	G	NM_001080420		51160845	1	tier1	-	no_errors	ENST00000262795	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	C	C	51160845	G	C	51160845	3	2	58	1	0	0	0	0	1	0	0	0	14311	1020	36	5	4718	5	SHANK3	22	51160845	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	150176	51160845	143721	2274	16657											
ARSD	414	genome.wustl.edu	37	chrX	2828792	2828792	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaaatacgtgaatgttGagttctttaaaccattgtct	12	15	9	5	1	2	3	0	3	2	0	2	3	2	3	1	1	2	2	1	1	5	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:2828792G>T	ENST00000381154.1	-	7	1118	c.1043C>A	c.(1042-1044)tCa>tAa	p.S348*	ARSD_ENST00000217890.6_5'Flank	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	348					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTGAATGTTGAGTTCTTTAA	0.418																																																	0													289	228	249					X																	2828792		2203	4300	6503	SO:0001587	stop_gained	0			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"Arylsulfatase family"	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1043C>A	X.37:g.2828792G>T	ENSP00000370546:p.Ser348*		Q9UHJ8	Nonsense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S348*	ENST00000381154.1	37	c.1043	CCDS35196.1	X	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614851	0.66672	.	.	ENSG00000006756	ENST00000381154	.	.	.	3.3	-2.24	0.06909	.	0.376729	0.26373	U	0.024746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	6.4118	0.21696	0.0:0.335:0.2378:0.4272	.	.	.	.	X	348	.	ENSP00000370546:S348X	S	-	2	0	ARSD	2838792	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	-0.136000	0.10405	-0.104000	0.12154	0.431000	0.28591	TCA	ARSD	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000006756		0.418	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD	HGNC	protein_coding	OTTHUMT00000055636.1	-	0	61	0	G			2828792	-1	tier1	-	no_errors	ENST00000381154	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.016	T	T	2828792	G	T	2828792	4	4	58	1	0	0	0	0	0	1	0	0	990	1294	45	3	754	3	ARSD	23	2828792	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		2828792	152441768	2275	16658											
SHROOM2	357	genome.wustl.edu	37	chrX	9863381	9863381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggctggcagggtccccGgccctgtgtgcagggagacc	5	5	18	13	2	0	1	0	0	0	1	1	3	1	1	4	5	2	3	4	5	0	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:9863381G>A	ENST00000380913.3	+	4	1523	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	478					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CAGGGTCCCCGGCCCTGTGTG	0.677																																																	0													15	16	15					X																	9863381		2195	4288	6483	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1433G>A	X.37:g.9863381G>A	ENSP00000370299:p.Arg478Gln		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R478Q	ENST00000380913.3	37	c.1433	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250778	0.22880	.	.	ENSG00000146950	ENST00000380913	T	0.14893	2.47	4.47	-1.32	0.09201	.	0.714746	0.11837	N	0.524634	T	0.08537	0.0212	L	0.42245	1.32	0.09310	N	1	P	0.37158	0.585	B	0.24541	0.054	T	0.23084	-1.0198	10	0.33141	T	0.24	-2.8152	1.2586	0.01996	0.5458:0.1613:0.1326:0.1603	.	478	Q13796	SHRM2_HUMAN	Q	478	ENSP00000370299:R478Q	ENSP00000370299:R478Q	R	+	2	0	SHROOM2	9823381	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.990000	0.29642	-0.260000	0.09418	-0.191000	0.12829	CGG	SHROOM2	-	NULL	ENSG00000146950		0.677	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	13	0	G	NM_001649		9863381	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	80.00	3	12	SNP	0.000	A	A	9863381	G	A	9863381	3	1	58	1	0	0	0	0	1	0	0	0	14339	1116	39	1	1447	1	SHROOM2	23	9863381	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	7034589	9863381	145407179	2276	16659											
SHROOM2	357	genome.wustl.edu	37	chrX	9900355	9900355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccgggagggccggggccGagcgggaaccctacctcgag	6	2	18	15	5	0	0	0	0	0	0	1	4	0	2	6	5	3	0	6	5	2	1	rs148190447		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:9900355G>A	ENST00000380913.3	+	6	3122	c.3032G>A	c.(3031-3033)cGa>cAa	p.R1011Q	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1011					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCGGGGCCGAGCGGGAACC	0.652													g|||	1	0.000264901	0	0	3775	,	,		11490	0		0	False		,,,				2504	0.001																0													37	38	38					X																	9900355		2200	4299	6499	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3032G>A	X.37:g.9900355G>A	ENSP00000370299:p.Arg1011Gln		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1011Q	ENST00000380913.3	37	c.3032	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	g	17.25	3.342979	0.61073	.	.	ENSG00000146950	ENST00000380913	T	0.15718	2.4	4.35	3.46	0.39613	.	1.119980	0.06861	N	0.799099	T	0.34395	0.0896	L	0.43152	1.355	0.35863	D	0.827614	D	0.89917	1.0	D	0.67231	0.95	T	0.04320	-1.0960	10	0.59425	D	0.04	.	11.1366	0.48378	0.095:0.0:0.905:0.0	.	1011	Q13796	SHRM2_HUMAN	Q	1011	ENSP00000370299:R1011Q	ENSP00000370299:R1011Q	R	+	2	0	SHROOM2	9860355	0.939000	0.31865	0.001000	0.08648	0.020000	0.10135	4.289000	0.59013	0.646000	0.30693	0.591000	0.81541	CGA	SHROOM2	-	NULL	ENSG00000146950		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	18	0	G	NM_001649		9900355	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	100.00	0	10	SNP	0.007	A	A	9900355	G	A	9900355	3	1	58	1	0	0	0	0	1	0	0	0	14339	1058	37	1	3054	1	SHROOM2	23	9900355	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	36974	9900355	145370205	2277	16660											
CNKSR2	22866	genome.wustl.edu	37	chrX	21627459	21627459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccccagagcacaggCggcagtctaccctgccaact	9	6	8	18	1	2	1	0	0	2	1	3	1	2	1	5	2	4	2	5	2	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:21627459C>T	ENST00000379510.3	+	20	2452	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	CNKSR2_ENST00000543067.1_Missense_Mutation_p.R757W|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R806W|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R776W	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	806					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAGCACAGGCGGCAGTCTAC	0.542																																																	0													64	60	61					X																	21627459		2203	4300	6503	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2416C>T	X.37:g.21627459C>T	ENSP00000368824:p.Arg806Trp		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.R806W	ENST00000379510.3	37	c.2416	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140311	0.37825	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.21031	2.3;2.03;2.05;2.33	5.51	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.66939	2.045	0.52099	D	0.999949	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.969;0.958;0.991;0.983	T	0.35773	-0.9775	10	0.87932	D	0	-1.8636	13.8863	0.63710	0.2782:0.7218:0.0:0.0	.	776;757;398;806	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	W	776;757;806;806	ENSP00000397906:R776W;ENSP00000444633:R757W;ENSP00000279451:R806W;ENSP00000368824:R806W	ENSP00000279451:R806W	R	+	1	2	CNKSR2	21537380	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	1.230000	0.32612	0.472000	0.27344	-0.371000	0.07208	CGG	CNKSR2	-	NULL	ENSG00000149970		0.542	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	-	0	28	0	C	NM_014927		21627459	1	tier1	-	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	77.42	7	24	SNP	1.000	T	T	21627459	C	T	21627459	3	4	58	1	0	0	0	0	1	0	0	0	3614	759	27	1	2494	1	CNKSR2	23	21627459	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	11727104	21627459	133643101	2278	16661											
USP9X	8239	genome.wustl.edu	37	chrX	41029818	41029818	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatctcctggaaaccatggTaatcattacagtgatggtcc	11	11	10	9	0	2	1	1	1	1	0	4	3	3	3	3	4	2	1	3	4	3	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:41029818T>C	ENST00000324545.8	+	20	3606	c.2973T>C	c.(2971-2973)ggT>ggC	p.G991G	USP9X_ENST00000378308.2_Silent_p.G991G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	991					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAACCATGGTAATCATTACA	0.428																																					Ovarian(172;1807 2695 35459 49286)												0													87	81	83					X																	41029818		2161	4279	6440	SO:0001819	synonymous_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2973T>C	X.37:g.41029818T>C			O75550|Q8WWT3|Q8WX12	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.G991	ENST00000324545.8	37	c.2973	CCDS43930.1	X																																																																																			USP9X	-	NULL	ENSG00000124486		0.428	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0	59	0	T	NM_004652		41029818	1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	silent	83.87	10	52	SNP	0.969	C	C	41029818	T	C	41029818	2	2	58	1	0	0	0	0	0	0	0	1	17139	1625	57	4		4	USP9X	23	41029818	Silent	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	19402359	41029818	114240742	2279	16662											
DDX3X	1654	genome.wustl.edu	37	chrX	41201775	41201775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcgtggacggagtgattaCgatggcattggcagccgtgg	8	9	17	7	4	0	1	0	1	0	0	1	5	0	3	1	5	2	2	1	5	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:41201775C>T	ENST00000399959.2	+	5	1167	c.312C>T	c.(310-312)taC>taT	p.Y104Y	DDX3X_ENST00000441189.2_Silent_p.Y104Y|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_Silent_p.Y148Y|DDX3X_ENST00000457138.2_Silent_p.Y88Y	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	104	Interaction with GSK3B.|Required for TBK1 and IKBKE-dependent IFN-beta activation.|Required for interaction with IKBKE.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.Y104Y(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGAGTGATTACGATGGCATTG	0.423										HNSCC(61;0.18)			C|||	2	0.000529801	0	0	3775	,	,		15431	0		0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	large_intestine(1)											103	104	103					X																	41201775		2192	4291	6483	SO:0001819	synonymous_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.312C>T	X.37:g.41201775C>T			A8K538|B4E3E8|O15536	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y104	ENST00000399959.2	37	c.312	CCDS43931.1	X																																																																																			DDX3X	-	NULL	ENSG00000215301		0.423	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	-	0	48	0	C	NM_024005		41201775	1	tier1	-	no_errors	ENST00000399959	ensembl	human	known	74_37	silent	75.51	12	37	SNP	1.000	T	T	41201775	C	T	41201775	2	4	58	1	0	0	0	0	0	0	0	1	4367	547	19	1		1	DDX3X	23	41201775	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	171957	41201775	114068785	2280	16663											
EFHC2	80258	genome.wustl.edu	37	chrX	44094659	44094660	+	Frame_Shift_Ins	INS	-	-	A																															ttgtctgtgactagttttgcINSaaaaaaacggagtatattgc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:44094659_44094660insA	ENST00000420999.1	-	9	1397_1398	c.1314_1315insT	c.(1312-1317)tttgcafs	p.A439fs		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	439	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACTAGTTTTGCAAAAAAACGGA	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"EF-hand domain containing"	26233	protein-coding gene	gene with protein product		300817	"mental retardation, X-linked 74"	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1315dupT	X.37:g.44094666_44094666dupA	ENSP00000404232:p.Ala439fs		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Frame_Shift_Ins	INS	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom	p.A438fs	ENST00000420999.1	37	c.1315_1314	CCDS55405.1	X																																																																																			EFHC2	-	smart_Uncharacterised_DM10	ENSG00000183690		0.342	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2		0	23	0	-	NM_025184		44094660	-1	tier1		no_errors	ENST00000420999	ensembl	human	known	74_37	frame_shift_ins	56.52	10	13	INS	1.000:0.996	A	A	44094660	-	A	44094659	7	5	58	1	0	1	1	0	0	0	0	0	4961	710	25	0	962	0	EFHC2	23	44094659	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	2892884	44094659	111175901	2281	16664											
SUV39H1	6839	genome.wustl.edu	37	chrX	48564745	48564745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggactacgtggaggaCgtgtacaccgtggatgccgc	8	7	15	11	4	0	0	0	0	0	0	0	5	0	4	3	4	3	1	3	4	2	2	rs141546891		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:48564745C>T	ENST00000376687.3	+	4	1108	c.918C>T	c.(916-918)gaC>gaT	p.D306D	SUV39H1_ENST00000337852.6_Silent_p.D317D|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.T154M|SUV39H1_ENST00000482260.1_3'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	306	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACGTGGAGGACGTGTACACCG	0.617																																																	0								C		0,3835		0,0,1632,571	82	71	75		918	-2.9	1	X	dbSNP_134	75	1,6727		0,1,2427,1872	no	coding-synonymous	SUV39H1	NM_003173.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		306/413	48564745	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"Chromatin-modifying enzymes / K-methyltransferases"	11479	protein-coding gene	gene with protein product		300254	"suppressor of variegation 3-9 (Drosophila) homolog 1"	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.918C>T	X.37:g.48564745C>T			B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	NULL	p.T154M	ENST00000376687.3	37	c.461	CCDS14304.1	X	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252289	0.22880	0.0	1.49E-4	ENSG00000101945	ENST00000453214	.	.	.	4.39	-2.93	0.05598	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.22112	N	0.999358	.	.	.	.	.	.	T	0.36696	-0.9737	4	.	.	.	.	11.2724	0.49147	0.0:0.2687:0.0:0.7313	.	.	.	.	M	154	.	.	T	+	2	0	SUV39H1	48449689	0.493000	0.26035	0.982000	0.44146	0.950000	0.60333	-0.306000	0.08178	-0.700000	0.05070	0.287000	0.19450	ACG	SUV39H1	-	NULL	ENSG00000101945		0.617	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H1	HGNC	protein_coding	OTTHUMT00000058909.1	-	0	52	0	C	NM_003173		48564745	1	tier1	rs141546891	no_errors	ENST00000453214	ensembl	human	known	74_37	missense	79.25	11	42	SNP	0.960	T	T	48564745	C	T	48564745	2	4	58	1	0	0	0	0	0	0	0	1	15459	535	19	1		1	SUV39H1	23	48564745	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4470086	48564745	106705815	2282	16665											
HDAC6	10013	genome.wustl.edu	37	chrX	48681613	48681613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattgggggagccatgctggGccagaccacctcagaggagg	9	5	16	11	0	1	2	1	0	0	2	1	4	1	4	4	5	2	1	4	5	0	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:48681613G>T	ENST00000334136.5	+	25	2982	c.2804G>T	c.(2803-2805)gGc>gTc	p.G935V	HDAC6_ENST00000444343.2_Missense_Mutation_p.G949V|HDAC6_ENST00000376619.2_Missense_Mutation_p.G935V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	935					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCCATGCTGGGCCAGACCACC	0.652																																					Pancreas(112;205 1675 2305 8976 15959)												0													16	15	15					X																	48681613		2198	4296	6494	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2804G>T	X.37:g.48681613G>T	ENSP00000334061:p.Gly935Val		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.G949V	ENST00000334136.5	37	c.2846	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523548	0.44866	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.61742	0.08;0.09;0.09	4.02	-2.1	0.07210	.	2.917500	0.01050	N	0.004456	T	0.31420	0.0796	N	0.08118	0	0.09310	N	1	B;P;B;B	0.45126	0.04;0.851;0.072;0.092	B;B;B;B	0.36289	0.007;0.221;0.016;0.014	T	0.24548	-1.0157	10	0.30078	T	0.28	0.0041	4.8292	0.13432	0.2297:0.0:0.5735:0.1968	.	925;298;583;935	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	V	949;935;935	ENSP00000398566:G949V;ENSP00000334061:G935V;ENSP00000365804:G935V	ENSP00000334061:G935V	G	+	2	0	HDAC6	48566557	0.000000	0.05858	0.210000	0.23637	0.654000	0.38779	-0.592000	0.05747	-0.075000	0.12798	0.600000	0.82982	GGC	HDAC6	-	NULL	ENSG00000094631		0.652	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2		0	79	0	G	NM_006044		48681613	1			no_errors	ENST00000444343	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.004	T	T	48681613	G	T	48681613	3	4	58	1	0	0	0	0	1	0	0	0	7038	1203	42	3	2898	3	HDAC6	23	48681613	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	116868	48681613	106588947	2283	16666											
OTUD5	55593	genome.wustl.edu	37	chrX	48814242	48814242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccccacagctcttacctgCtcgacagtggcagggtccat	8	8	9	16	1	1	0	0	0	1	0	3	1	2	0	4	2	3	3	4	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:48814242C>T	ENST00000156084.4	-	1	651	c.591G>A	c.(589-591)gaG>gaA	p.E197E	OTUD5_ENST00000396743.3_Silent_p.E197E|OTUD5_ENST00000484499.1_Splice_Site|OTUD5_ENST00000428668.2_Intron|RNU6-722P_ENST00000411377.1_RNA|OTUD5_ENST00000376488.3_Silent_p.E197E	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	197					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CTCTTACCTGCTCGACAGTGG	0.632																																																	0													37	22	27					X																	48814242		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"OTU domain containing"	25402	protein-coding gene	gene with protein product		300713	"OTU domain containing 5"			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.591G>A	X.37:g.48814242C>T			B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Splice_Site	SNP	-	NULL	ENST00000156084.4	37	c.NULL	CCDS14313.1	X																																																																																			OTUD5	-	-	ENSG00000068308		0.632	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	-	0	22	0	C	NM_017602		48814242	-1	tier1	-	no_errors	ENST00000484499	ensembl	human	known	74_37	splice_site	63.16	7	12	SNP	1.000	T	T	48814242	C	T	48814242	2	4	58	1	0	0	0	0	0	0	0	1	11354	796	28	3		3	OTUD5	23	48814242	Silent	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	132629	48814242	106456318	2284	16667											
CACNA1F	778	genome.wustl.edu	37	chrX	49087004	49087004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcacatcgaagcctcctgGctttcccccggtgtgcgggg	4	10	12	15	3	1	0	1	0	0	0	4	1	3	0	4	4	2	1	4	4	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:49087004G>A	ENST00000376265.2	-	5	650	c.589C>T	c.(589-591)Cca>Tca	p.P197S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P197S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P132S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	197					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P197S(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCCTCCTGGCTTTCCCCCG	0.697																																																	1	Substitution - Missense(1)	lung(1)											29	27	28					X																	49087004		2199	4297	6496	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.589C>T	X.37:g.49087004G>A	ENSP00000365441:p.Pro197Ser		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.P197S	ENST00000376265.2	37	c.589	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094867	0.08681	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97161	-4.27;-4.27;-4.27	4.03	4.03	0.46877	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.37750	1.13	0.39071	D	0.960722	B;B	0.24963	0.094;0.115	B;B	0.23419	0.027;0.046	D	0.91185	0.4979	10	0.11485	T	0.65	.	14.3437	0.66646	0.0:0.0:1.0:0.0	.	197;197	F5CIQ9;O60840	.;CAC1F_HUMAN	S	132;197;197	ENSP00000365427:P132S;ENSP00000321618:P197S;ENSP00000365441:P197S	ENSP00000321618:P197S	P	-	1	0	CACNA1F	48973948	1.000000	0.71417	0.946000	0.38457	0.572000	0.35998	2.580000	0.46068	1.601000	0.50113	0.287000	0.19450	CCA	CACNA1F	-	pfam_Ion_trans_dom	ENSG00000102001		0.697	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0	37	0	G	NM_005183		49087004	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	90.62	3	29	SNP	1.000	A	A	49087004	G	A	49087004	3	1	58	1	0	0	0	0	1	0	0	0	2550	1203	42	3	5520	3	CACNA1F	23	49087004	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	272762	49087004	106183556	2285	16668											
CLCN5	1184	genome.wustl.edu	37	chrX	49806967	49806967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaggggagttttagtaGcttccagaacagctccagtg	10	10	12	9	0	1	1	1	0	0	1	3	2	3	2	2	2	4	5	2	2	3	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:49806967G>T	ENST00000376088.3	+	4	700	c.59G>T	c.(58-60)aGc>aTc	p.S20I	CLCN5_ENST00000376091.3_Missense_Mutation_p.S20I|CLCN5_ENST00000482218.2_Missense_Mutation_p.S20I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	0					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGTTTTAGTAGCTTCCAGAAC	0.453																																																	0													79	60	66					X																	49806967		1567	3579	5146	SO:0001583	missense	0			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"Ion channels / Chloride channels : Voltage-sensitive"	2023	protein-coding gene	gene with protein product	"Dent disease"	300008	"nephrolithiasis 2, X-linked", "nephrolithiasis 1 (X-linked)", "chloride channel 5"	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.59G>T	X.37:g.49806967G>T	ENSP00000365256:p.Ser20Ile		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.S20I	ENST00000376088.3	37	c.59	CCDS48115.1	X	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664256	0.88251	.	.	ENSG00000171365	ENST00000376088;ENST00000376091	D;D	0.90385	-2.66;-2.66	5.22	5.22	0.72569	.	.	.	.	.	D	0.94820	0.8327	.	.	.	0.80722	D	1	D	0.58970	0.984	D	0.71870	0.975	D	0.94849	0.8012	8	0.51188	T	0.08	.	15.1166	0.72407	0.0:0.0:1.0:0.0	.	20	P51795-2	.	I	20	ENSP00000365256:S20I;ENSP00000365259:S20I	ENSP00000365256:S20I	S	+	2	0	CLCN5	49693707	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.229000	0.72294	2.158000	0.67659	0.422000	0.28245	AGC	CLCN5	-	NULL	ENSG00000171365		0.453	CLCN5-001	KNOWN	basic|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056542.2	-	0	52	0	G			49806967	1	tier1	-	no_errors	ENST00000376088	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	49806967	G	T	49806967	3	4	58	1	0	0	0	0	1	0	0	0	3473	971	34	3	65	3	CLCN5	23	49806967	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	719963	49806967	105463593	2286	16669											
IQSEC2	23096	genome.wustl.edu	37	chrX	53285056	53285056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcgctttatctcctcctcctCctgcttcctcagggcgacac	4	12	7	18	2	2	0	1	0	1	0	7	1	6	0	5	1	1	2	5	1	1	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:53285056C>G	ENST00000375368.5	-	2	1095	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	IQSEC2_ENST00000396435.3_Missense_Mutation_p.E309Q|IQSEC2_ENST00000375365.2_Missense_Mutation_p.E104Q			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	299	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCTCCTCCTCCTGCTTCCTC	0.637																																																	0													71	58	62					X																	53285056		2203	4300	6503	SO:0001583	missense	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.895G>C	X.37:g.53285056C>G	ENSP00000364517:p.Glu299Gln		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.E309Q	ENST00000375368.5	37	c.925		X	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672002	0.29693	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.79845	-1.31;-1.31;-1.31	4.63	4.63	0.57726	.	0.272597	0.35067	N	0.003479	T	0.72301	0.3443	N	0.11255	0.115	0.45216	D	0.998225	P;P	0.50819	0.939;0.844	P;B	0.51193	0.662;0.349	T	0.71666	-0.4524	10	0.22109	T	0.4	.	15.434	0.75129	0.0:1.0:0.0:0.0	.	309;104	Q5JU85-2;Q5JU85-3	.;.	Q	309;299;104	ENSP00000379712:E309Q;ENSP00000364517:E299Q;ENSP00000364514:E104Q	ENSP00000364514:E104Q	E	-	1	0	IQSEC2	53301781	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	4.828000	0.62730	1.881000	0.54492	0.461000	0.40582	GAG	IQSEC2	-	NULL	ENSG00000124313		0.637	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		-	0	32	0	C	XM_291345		53285056	-1	tier1	-	no_errors	ENST00000396435	ensembl	human	known	74_37	missense	80.77	5	21	SNP	1.000	G	G	53285056	C	G	53285056	3	3	58	1	0	0	0	0	1	0	0	0	7845	864	30	5	3593	5	IQSEC2	23	53285056	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	3478089	53285056	101985504	2287	16670											
HUWE1	10075	genome.wustl.edu	37	chrX	53577971	53577971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtctcagggcttgagcCtcagctgcaatgtcaggtgg	6	11	13	11	1	4	1	3	1	2	0	6	1	4	1	1	3	3	3	1	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:53577971C>A	ENST00000342160.3	-	64	9733	c.9276G>T	c.(9274-9276)gaG>gaT	p.E3092D	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.E3092D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3092					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGCTTGAGCCTCAGCTGCAA	0.567																																																	0													85	66	73					X																	53577971		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9276G>T	X.37:g.53577971C>A	ENSP00000340648:p.Glu3092Asp		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E3092D	ENST00000342160.3	37	c.9276	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.255400|3.255400	0.59321|0.59321	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.71698|.	-0.59;-0.59|.	5.88|5.88	5.03|5.03	0.67393|0.67393	.|.	0.062772|.	0.64402|.	D|.	0.000007|.	T|T	0.73118|0.73118	0.3546|0.3546	M|M	0.76727|0.76727	2.345|2.345	0.53688|0.53688	D|D	0.999978|0.999978	P;D|.	0.56035|.	0.956;0.974|.	D;D|.	0.70487|.	0.931;0.969|.	T|T	0.73493|0.73493	-0.3965|-0.3965	10|5	0.72032|.	D|.	0.01|.	.|.	13.0642|13.0642	0.59024|0.59024	0.0:0.9197:0.0:0.0802|0.0:0.9197:0.0:0.0802	.|.	3092;3076|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	D|C	3092|2126	ENSP00000340648:E3092D;ENSP00000262854:E3092D|.	ENSP00000262854:E3092D|.	E|G	-|-	3|1	2|0	HUWE1|HUWE1	53594696|53594696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.692000|1.692000	0.37731|0.37731	1.252000|1.252000	0.44001|0.44001	0.600000|0.600000	0.82982|0.82982	GAG|GGC	HUWE1	-	NULL	ENSG00000086758		0.567	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	25	0	C	XM_497119		53577971	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	A	A	53577971	C	A	53577971	3	1	58	1	0	0	0	0	1	0	0	0	7488	680	24	3	3928	3	HUWE1	23	53577971	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	292915	53577971	101692589	2288	16671											
HUWE1	10075	genome.wustl.edu	37	chrX	53587251	53587251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttagggtcctctgactgCgcccgatgccctgggtgaga	5	9	14	13	2	1	2	0	2	1	1	2	4	2	2	4	2	2	0	4	2	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:53587251C>T	ENST00000342160.3	-	55	8091	c.7634G>A	c.(7633-7635)cGc>cAc	p.R2545H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2545H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2545					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTCTGACTGCGCCCGATGCC	0.577																																																	0													102	69	80					X																	53587251		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7634G>A	X.37:g.53587251C>T	ENSP00000340648:p.Arg2545His		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R2545H	ENST00000342160.3	37	c.7634	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560263	0.65538	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.49139	0.79;0.79	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	N	0.14661	0.345	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.77004	0.976;0.989	T	0.52366	-0.8585	10	0.30078	T	0.28	.	17.6402	0.88133	0.0:1.0:0.0:0.0	.	2545;2545	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	2545	ENSP00000340648:R2545H;ENSP00000262854:R2545H	ENSP00000262854:R2545H	R	-	2	0	HUWE1	53603976	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.829000	0.75314	2.524000	0.85096	0.600000	0.82982	CGC	HUWE1	-	NULL	ENSG00000086758		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	38	0	C	XM_497119		53587251	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	85.71	4	24	SNP	1.000	T	T	53587251	C	T	53587251	3	4	58	1	0	0	0	0	1	0	0	0	7488	768	27	1	5606	1	HUWE1	23	53587251	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	9280	53587251	101683309	2289	16672											
FAM104B	90736	genome.wustl.edu	37	chrX	55172586	55172586	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaaggtctggttgatatgGgagtaaagaccttggcatgg	10	12	14	5	0	2	2	1	1	1	1	2	3	2	3	1	5	0	3	1	5	4	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:55172586G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000425133.2_Silent_p.S94S|FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478																																																	1	Substitution - coding silent(1)	endometrium(1)											78	66	70					X																	55172586		2203	4297	6500	SO:0001627	intron_variant	0			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+27C>T	X.37:g.55172586G>A			A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Silent	SNP	NULL	p.S94	ENST00000358460.4	37	c.282	CCDS35305.2	X																																																																																			FAM104B	-	NULL	ENSG00000182518		0.478	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM104B	HGNC	protein_coding	OTTHUMT00000056851.1		0	28	0	G	NM_138362		55172586	-1			no_errors	ENST00000425133	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.008	A	A	55172586	G	A	55172586	1	1	58	0	1	0	0	0	0	0	0	0	5405	1219	43	3		3	FAM104B	23	55172586	Intron	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	1585335	55172586	100097974	2290	16673											
MSN	4478	genome.wustl.edu	37	chrX	64955272	64955272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggcccgggaggagaaGcaccagaagcagatggagcg	13	1	17	10	2	0	3	0	0	0	3	0	6	0	5	2	4	3	3	2	4	2	0			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:64955272G>T	ENST00000360270.5	+	8	1111	c.939G>T	c.(937-939)aaG>aaT	p.K313N		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	313					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGGAGGAGAAGCACCAGAAGC	0.582			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													51	32	38					X																	64955272		2203	4299	6502	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.939G>T	X.37:g.64955272G>T	ENSP00000353408:p.Lys313Asn			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.K313N	ENST00000360270.5	37	c.939	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169598	0.78452	.	.	ENSG00000147065	ENST00000360270	T	0.76839	-1.05	5.45	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.89840	3.065	0.80722	D	1	P	0.49862	0.929	P	0.51135	0.66	D	0.85839	0.1396	10	0.87932	D	0	.	9.1984	0.37242	0.2475:0.0:0.7525:0.0	.	313	P26038	MOES_HUMAN	N	313	ENSP00000353408:K313N	ENSP00000353408:K313N	K	+	3	2	MSN	64871997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.010000	0.40913	1.075000	0.40932	-0.199000	0.12753	AAG	MSN	-	pirsf_ERM	ENSG00000147065		0.582	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	-	0	42	0	G	NM_002444		64955272	1	tier1	-	no_errors	ENST00000360270	ensembl	human	known	74_37	missense	73.53	9	25	SNP	1.000	T	T	64955272	G	T	64955272	3	4	58	1	0	0	0	0	1	0	0	0	9923	962	34	3	969	3	MSN	23	64955272	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	9782686	64955272	90315288	2291	16674											
VSIG4	11326	genome.wustl.edu	37	chrX	65244881	65244881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaaccttgttgggatgtcTtccgacagagcatgatatag	11	12	10	8	1	1	2	0	1	1	1	2	4	2	3	2	1	2	2	2	1	3	6			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:65244881T>C	ENST00000374737.4	-	6	1034	c.926A>G	c.(925-927)aAg>aGg	p.K309R	VSIG4_ENST00000455586.2_Missense_Mutation_p.K309R|VSIG4_ENST00000412866.2_Missense_Mutation_p.K215R	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	309					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGGATGTCTTCCGACAGAG	0.438																																																	0													114	80	92					X																	65244881		2203	4300	6503	SO:0001583	missense	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.926A>G	X.37:g.65244881T>C	ENSP00000363869:p.Lys309Arg		Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.K309R	ENST00000374737.4	37	c.926	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.490236	0.01018	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866	T;T;T	0.25579	1.92;1.79;2.31	4.29	1.85	0.25348	.	0.691767	0.13770	N	0.363952	T	0.15478	0.0373	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.30146	0.014;0.119;0.128;0.27;0.057	B;B;B;B;B	0.30179	0.005;0.028;0.112;0.086;0.01	T	0.30238	-0.9985	10	0.02654	T	1	-10.7144	5.1769	0.15139	0.0:0.2672:0.0:0.7328	.	215;309;299;215;309	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.;.;.;.;VSIG4_HUMAN	R	309;309;215	ENSP00000363869:K309R;ENSP00000411581:K309R;ENSP00000394143:K215R	ENSP00000363869:K309R	K	-	2	0	VSIG4	65161606	0.422000	0.25473	0.049000	0.19019	0.018000	0.09664	0.157000	0.16402	0.538000	0.28769	0.486000	0.48141	AAG	VSIG4	-	NULL	ENSG00000155659		0.438	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	-	0	15	0	T	NM_007268		65244881	-1	tier1	-	no_errors	ENST00000374737	ensembl	human	known	74_37	missense	77.78	4	14	SNP	0.098	C	C	65244881	T	C	65244881	3	2	58	1	0	0	0	0	1	0	0	0	17274	1609	56	4	289	4	VSIG4	23	65244881	Missense_Mutation	SNP	T	TCGA-L5-A4OI-01A-11D-A27G-09	289609	65244881	90025679	2292	16675											
HEPH	9843	genome.wustl.edu	37	chrX	65393488	65393489	+	Frame_Shift_Ins	INS	-	-	G																															gctgatgactctgttcccccINSggggggcagccatatctaca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:65393488_65393489insG	ENST00000343002.2	+	3	1134_1135	c.470_471insG	c.(469-474)ccggggfs	p.PG157fs	HEPH_ENST00000374727.3_Frame_Shift_Ins_p.PG160fs|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.PG160fs|HEPH_ENST00000519389.1_Frame_Shift_Ins_p.PG211fs|HEPH_ENST00000441993.2_Frame_Shift_Ins_p.PG160fs			Q9BQS7	HEPH_HUMAN	hephaestin	157	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTGTTCCCCCGGGGGGCAGCC	0.535																																																	0																																										SO:0001589	frameshift_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.476dupG	X.37:g.65393494_65393494dupG	ENSP00000343939:p.Pro157fs		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Ins	INS	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.S214fs	ENST00000343002.2	37	c.632_633		X																																																																																			HEPH	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000089472		0.535	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1		0	34	0	-	NM_138737		65393489	1	tier1		no_errors	ENST00000519389	ensembl	human	known	74_37	frame_shift_ins	50.00	13	13	INS	0.997:0.835	G	G	65393489	-	G	65393488	7	5	58	1	0	1	1	0	0	0	0	0	7081	652	23	0	646	0	HEPH	23	65393488	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	148607	65393488	89877072	2293	16676											
FAM155B	27112	genome.wustl.edu	37	chrX	68725612	68725613	+	Frame_Shift_Ins	INS	-	-	C																															tttcgaaccgactactccggINSccccccctctgcggccccct																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:68725612_68725613insC	ENST00000252338.4	+	1	529_530	c.487_488insC	c.(487-489)gccfs	p.A163fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	163						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACTACTCCGGCCCCCCCTCTG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.494dupC	X.37:g.68725619_68725619dupC	ENSP00000252338:p.Ala163fs		B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Ins	INS	NULL	p.L166fs	ENST00000252338.4	37	c.487_488	CCDS35317.1	X																																																																																			FAM155B	-	NULL	ENSG00000130054		0.624	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1		0	25	0	-	NM_015686		68725613	1	tier1		no_errors	ENST00000252338	ensembl	human	known	74_37	frame_shift_ins	59.09	9	13	INS	0.069:0.029	C	C	68725613	-	C	68725612	7	5	58	1	0	1	1	0	0	0	0	0	5485	1203	42	0	489	0	FAM155B	23	68725612	Frame_Shift_Ins	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	3332124	68725612	86544948	2294	16677											
FAM155B	27112	genome.wustl.edu	37	chrX	68725688	68725688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccaaaaaaaacttgctcaAaggccactttcggaacttca	15	8	6	12	2	2	0	2	0	0	0	3	1	2	1	2	2	3	1	2	2	6	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:68725688A>G	ENST00000252338.4	+	1	605	c.563A>G	c.(562-564)aAa>aGa	p.K188R	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	188						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						AACTTGCTCAAAGGCCACTTT	0.612																																																	0													51	51	51					X																	68725688		2203	4300	6503	SO:0001583	missense	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"transmembrane protein 28", "chromosome X open reading frame 63"	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.563A>G	X.37:g.68725688A>G	ENSP00000252338:p.Lys188Arg		B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	NULL	p.K188R	ENST00000252338.4	37	c.563	CCDS35317.1	X	.	.	.	.	.	.	.	.	.	.	A	9.374	1.071195	0.20147	.	.	ENSG00000130054	ENST00000252338	T	0.11930	2.73	4.9	2.31	0.28768	.	0.309084	0.26163	N	0.025965	T	0.04907	0.0132	N	0.08118	0	0.26824	N	0.968734	B	0.14805	0.011	B	0.14578	0.011	T	0.39563	-0.9608	10	0.11485	T	0.65	-4.8655	4.4196	0.11474	0.6747:0.2014:0.124:0.0	.	188	O75949-2	.	R	188	ENSP00000252338:K188R	ENSP00000252338:K188R	K	+	2	0	FAM155B	68642413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.268000	0.33062	1.623000	0.50342	0.378000	0.23410	AAA	FAM155B	-	NULL	ENSG00000130054		0.612	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1	-	0	21	0	A	NM_015686		68725688	1	tier1	-	no_errors	ENST00000252338	ensembl	human	known	74_37	missense	92.86	1	13	SNP	1.000	G	G	68725688	A	G	68725688	3	3	58	1	0	0	0	0	1	0	0	0	5485	14	1	4	565	4	FAM155B	23	68725688	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	76	68725688	86544872	2295	16678											
NONO	4841	genome.wustl.edu	37	chrX	70510542	70510544	+	In_Frame_Del	DEL	CAT	CAT	-																															aaaaccatactccaagaaagCatcatcaacatcaccaccag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:70510542_70510544delCAT	ENST00000276079.8	+	3	260_262	c.55_57delCAT	c.(55-57)catdel	p.H20del	NONO_ENST00000535149.1_Intron|NONO_ENST00000373841.1_In_Frame_Del_p.H20del|NONO_ENST00000373856.3_In_Frame_Del_p.H20del	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	20					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TCCAAGAAAGCATCATCAACATC	0.448			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	0																																										SO:0001651	inframe_deletion	0			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.55_57delCAT	X.37:g.70510545_70510547delCAT	ENSP00000276079:p.His20del		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	In_Frame_Del	DEL	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.H20in_frame_del	ENST00000276079.8	37	c.55_57	CCDS14410.1	X																																																																																			NONO	-	NULL	ENSG00000147140		0.448	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1		0	51	0	CAT	NM_007363		70510544	1	tier1		no_errors	ENST00000276079	ensembl	human	known	74_37	in_frame_del	75.68	9	28	DEL	1.000:1.000:1.000	-	-	70510544	CAT	-	70510542	7	5	58	1	0	1	0	1	0	0	0	0	10573	710	25	0	57	0	NONO	23	70510542	In_Frame_Del	DEL	CAT	TCGA-L5-A4OI-01A-11D-A27G-09	1784854	70510542	84760018	2296	16679											
NHSL2	340527	genome.wustl.edu	37	chrX	71354500	71354500	+	5'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccatcctagaggagaagCggtggcctcagctttgctcc	7	9	12	13	1	1	2	1	0	0	2	3	3	3	2	4	3	4	2	4	3	2	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:71354500C>T	ENST00000373677.1	+	0	1002				NHSL2_ENST00000535692.1_5'UTR|RGAG4_ENST00000609883.1_5'Flank|NHSL2_ENST00000540800.1_Missense_Mutation_p.R236W|RGAG4_ENST00000545866.1_5'Flank|NHSL2_ENST00000510661.1_Missense_Mutation_p.R49W			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AGAGGAGAAGCGGTGGCCTCA	0.572																																																	0													91	73	78					X																	71354500		692	1591	2283	SO:0001623	5_prime_UTR_variant	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-261C>T	X.37:g.71354500C>T			B2RN94	Missense_Mutation	SNP	NULL	p.R236W	ENST00000373677.1	37	c.706		X	.	.	.	.	.	.	.	.	.	.	c	17.77	3.470565	0.63625	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.49432	1.46;0.78	5.27	2.2	0.27929	.	.	.	.	.	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	B;B	0.26002	0.017;0.139	B;B	0.17433	0.007;0.018	T	0.04885	-1.0920	8	.	.	.	.	3.5916	0.07990	0.3346:0.4393:0.0:0.2262	.	236;49	F5H593;D6RBM4	.;.	W	236;49	ENSP00000444617:R236W;ENSP00000424079:R49W	.	R	+	1	2	NHSL2	71271225	1.000000	0.71417	0.965000	0.40720	0.946000	0.59487	1.781000	0.38644	0.443000	0.26582	0.464000	0.42555	CGG	NHSL2	-	NULL	ENSG00000204131		0.572	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0	26	0	C	NM_001013627		71354500	1	tier1	-	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	75.00	3	9	SNP	0.999	T	T	71354500	C	T	71354500	1	4	58	0	1	0	0	0	0	0	0	0	10451	759	27	1		1	NHSL2	23	71354500	5'UTR	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	843958	71354500	83916060	2297	16680											
ZDHHC15	158866	genome.wustl.edu	37	chrX	74636973	74636973	+	Missense_Mutation	SNP	G	G	T																															ttcttcatttgctagcagtgGgttctgtgactcattcatag																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:74636973G>T	ENST00000373367.3	-	10	1146	c.916C>A	c.(916-918)Cca>Aca	p.P306T	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.P297T	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	306					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GCTAGCAGTGGGTTCTGTGAC	0.448																																																	0													258	209	225					X																	74636973		2203	4300	6503	SO:0001583	missense	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.916C>A	X.37:g.74636973G>T	ENSP00000362465:p.Pro306Thr		B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.P306T	ENST00000373367.3	37	c.916	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554136	0.27739	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.41758	0.99;1.21	5.43	5.43	0.79202	.	0.154836	0.64402	D	0.000015	T	0.39600	0.1084	M	0.70275	2.135	0.80722	D	1	B;P	0.48764	0.342;0.915	B;B	0.36666	0.039;0.23	T	0.41179	-0.9523	10	0.14252	T	0.57	0.7684	16.7653	0.85522	0.0:0.0:1.0:0.0	.	297;306	B3KVG7;Q96MV8	.;ZDH15_HUMAN	T	306;297	ENSP00000362465:P306T;ENSP00000445420:P297T	ENSP00000362465:P306T	P	-	1	0	ZDHHC15	74553698	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.226000	0.89785	2.268000	0.75426	0.513000	0.50165	CCA	ZDHHC15	-	NULL	ENSG00000102383		0.448	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	-	0	53	0	G	NM_144969		74636973	-1	tier1	-	no_errors	ENST00000373367	ensembl	human	known	74_37	missense	82.00	9	41	SNP	1.000	T	T	74636973	G	T	74636973	3	4	58	1	0	0	0	0	1	0	0	0	17653	1232	43	3	105	3	ZDHHC15	23	74636973	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	3282473	74636973	80633587	2298	16681	69	2									
ZDHHC15	158866	genome.wustl.edu	37	chrX	74636981	74636981	+	Nonsense_Mutation	SNP	G	G	T																															ttgctagcagtgggttctgtGactcattcatagacctcata																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:74636981G>T	ENST00000373367.3	-	10	1138	c.908C>A	c.(907-909)tCa>tAa	p.S303*	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Nonsense_Mutation_p.S294*	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	303					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TGGGTTCTGTGACTCATTCAT	0.458																																																	0													242	197	212					X																	74636981		2203	4300	6503	SO:0001587	stop_gained	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"Zinc fingers, DHHC-type"	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.908C>A	X.37:g.74636981G>T	ENSP00000362465:p.Ser303*		B3KVG7|Q3SY30|Q6UWH3	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.S303*	ENST00000373367.3	37	c.908	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.383805	0.99155	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	.	.	.	5.43	5.43	0.79202	.	0.055610	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.7831	16.7653	0.85522	0.0:0.0:1.0:0.0	.	.	.	.	X	303;294	.	ENSP00000362465:S303X	S	-	2	0	ZDHHC15	74553706	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	6.307000	0.72815	2.268000	0.75426	0.513000	0.50165	TCA	ZDHHC15	-	NULL	ENSG00000102383		0.458	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	-	0	51	0	G	NM_144969		74636981	-1	tier1	-	no_errors	ENST00000373367	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	1.000	T	T	74636981	G	T	74636981	4	4	58	1	0	0	0	0	0	1	0	0	17653	1294	45	3	113	3	ZDHHC15	23	74636981	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8	74636981	80633579	2299	16682	69	2									
ATRX	546	genome.wustl.edu	37	chrX	76891501	76891501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcatctaaaaccaacttgGttgttattggacacttggtg	10	15	8	8	0	2	0	1	0	1	0	2	1	2	1	1	3	2	2	1	3	4	7			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:76891501G>T	ENST00000373344.5	-	16	4818	c.4604C>A	c.(4603-4605)aCc>aAc	p.T1535N	ATRX_ENST00000395603.3_Missense_Mutation_p.T1497N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1535					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AACCAACTTGGTTGTTATTGG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											101	86	91					X																	76891501		2203	4296	6499	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4604C>A	X.37:g.76891501G>T	ENSP00000362441:p.Thr1535Asn		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1535N	ENST00000373344.5	37	c.4604	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479921	0.63849	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.21031	2.03;2.03	5.33	5.33	0.75918	.	0.000000	0.85682	U	0.000000	T	0.43255	0.1239	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.79108	0.981;0.992	T	0.16630	-1.0396	10	0.18276	T	0.48	-3.2529	18.127	0.89589	0.0:0.0:1.0:0.0	.	1497;1535	P46100-4;P46100	.;ATRX_HUMAN	N	1535;1497	ENSP00000362441:T1535N;ENSP00000378967:T1497N	ENSP00000362441:T1535N	T	-	2	0	ATRX	76778157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.601000	0.82783	2.217000	0.71921	0.513000	0.50165	ACC	ATRX	-	superfamily_P-loop_NTPase	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2		0	78	0	G	NM_000489		76891501	-1			no_errors	ENST00000373344	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	76891501	G	T	76891501	3	4	58	1	0	0	0	0	1	0	0	0	1209	1261	44	3	2954	3	ATRX	23	76891501	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	2254520	76891501	78379059	2300	16683											
GPR174	84636	genome.wustl.edu	37	chrX	78427238	78427238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctaatttgctttgcacCttatcatttcagttttcctt	7	21	3	10	0	2	0	2	0	0	0	4	0	4	0	3	0	2	3	3	0	2	9			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:78427238C>T	ENST00000276077.1	+	1	770	c.734C>T	c.(733-735)cCt>cTt	p.P245L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGCTTTGCACCTTATCATTTC	0.398										HNSCC(63;0.18)																																							0													112	101	105					X																	78427238		2203	4300	6503	SO:0001583	missense	0			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"GPCR / Class A : Orphans"	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.734C>T	X.37:g.78427238C>T	ENSP00000276077:p.Pro245Leu		Q2M3F7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P245L	ENST00000276077.1	37	c.734	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	c	20.4	3.988374	0.74589	.	.	ENSG00000147138	ENST00000276077	T	0.79845	-1.31	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91985	0.7461	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93975	0.7253	10	0.87932	D	0	.	16.2284	0.82315	0.0:1.0:0.0:0.0	.	245	Q9BXC1	GP174_HUMAN	L	245	ENSP00000276077:P245L	ENSP00000276077:P245L	P	+	2	0	GPR174	78313894	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.586000	0.82596	2.139000	0.66308	0.488000	0.48403	CCT	GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000147138		0.398	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	-	0	15	0	C	NM_032553		78427238	1	tier1	-	no_errors	ENST00000276077	ensembl	human	known	74_37	missense	82.35	3	14	SNP	1.000	T	T	78427238	C	T	78427238	3	4	58	1	0	0	0	0	1	0	0	0	6698	681	24	3	736	3	GPR174	23	78427238	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1535737	78427238	76843322	2301	16684											
ZNF711	7552	genome.wustl.edu	37	chrX	84520244	84520246	+	In_Frame_Del	DEL	AAG	AAG	-																															ggcagttaaagattcttctcAagaagaagatgatatcagta																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:84520244_84520246delAAG	ENST00000373165.3	+	6	1205_1207	c.899_901delAAG	c.(898-903)caagaa>caa	p.E302del	ZNF711_ENST00000276123.3_In_Frame_Del_p.E302del|ZNF711_ENST00000395402.1_In_Frame_Del_p.E280del|ZNF711_ENST00000542798.1_In_Frame_Del_p.E98del|ZNF711_ENST00000360700.4_In_Frame_Del_p.E302del	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	302					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GATTCTTCTCAAGAAGAAGATGA	0.404																																																	0																																										SO:0001651	inframe_deletion	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"Zinc fingers, C2H2-type"	13128	protein-coding gene	gene with protein product		314990	"zinc finger protein 6 (CMPX1)", "zinc finger protein 6"	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.899_901delAAG	X.37:g.84520250_84520252delAAG	ENSP00000362260:p.Glu302del		B4DSV4|Q6NX42|Q9Y4J6	In_Frame_Del	DEL	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E280in_frame_del	ENST00000373165.3	37	c.833_835	CCDS35344.1	X																																																																																			ZNF711	-	pfam_Transcrp_activ_Zfx/Zfy-dom	ENSG00000147180		0.404	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2		0	26	0	AAG	NM_021998		84520246	1	tier1		no_errors	ENST00000395402	ensembl	human	known	74_37	in_frame_del	58.82	7	10	DEL	1.000:0.996:1.000	-	-	84520246	AAG	-	84520244	7	5	58	1	0	1	0	1	0	0	0	0	18164	130	5	0	913	0	ZNF711	23	84520244	In_Frame_Del	DEL	AAG	TCGA-L5-A4OI-01A-11D-A27G-09	6093006	84520244	70750316	2302	16685											
PCDH11X	27328	genome.wustl.edu	37	chrX	91133118	91133118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaaactggtgtcatccgaCcaaatatttcatttgataga	14	12	6	9	1	2	2	2	1	0	1	3	3	3	2	2	1	1	0	2	1	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:91133118C>T	ENST00000373094.1	+	2	2724	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P627S|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P627S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P627S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P627S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P627S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P627S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P627S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P627S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTCATCCGACCAAATATTTC	0.378																																					NSCLC(38;925 1092 2571 38200 45895)												0													23	21	22					X																	91133118		2184	4263	6447	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1879C>T	X.37:g.91133118C>T	ENSP00000362186:p.Pro627Ser		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P627S	ENST00000373094.1	37	c.1879	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093580	0.08632	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.35	5.35	0.76521	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	N	0.00313	-1.665	0.49483	D	0.999796	P;B;P;P;P;P;P;P	0.50710	0.924;0.094;0.924;0.924;0.924;0.938;0.924;0.858	P;B;P;P;P;P;P;B	0.51415	0.54;0.155;0.54;0.54;0.54;0.669;0.54;0.386	T	0.46541	-0.9184	10	0.02654	T	1	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	627;627;627;627;627;627;627;627	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	S	627	ENSP00000378746:P627S;ENSP00000362186:P627S;ENSP00000362189:P627S;ENSP00000355040:P627S;ENSP00000362180:P627S;ENSP00000423762:P627S;ENSP00000355105:P627S;ENSP00000384758:P627S;ENSP00000298274:P627S	ENSP00000298274:P627S	P	+	1	0	PCDH11X	91019774	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	5.826000	0.69293	2.212000	0.71576	0.415000	0.27848	CCA	PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000102290		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	24	0	C	NM_032969		91133118	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	92.31	2	24	SNP	1.000	T	T	91133118	C	T	91133118	3	4	58	1	0	0	0	0	1	0	0	0	11547	507	18	3	1885	3	PCDH11X	23	91133118	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	6612874	91133118	64137442	2303	16686											
FAM133A	286499	genome.wustl.edu	37	chrX	92964950	92964950	+	Frame_Shift_Del	DEL	A	A	-																															aggatgtaagaagcctcagcAaaaaaagaaagaaaagttac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:92964950delA	ENST00000355813.5	+	4	1058	c.532delA	c.(532-534)aaafs	p.K179fs	FAM133A_ENST00000322139.4_Frame_Shift_Del_p.K179fs|FAM133A_ENST00000538690.1_Frame_Shift_Del_p.K179fs|FAM133A_ENST00000332647.4_Frame_Shift_Del_p.K179fs	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	179	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGCCTCAGCAAAAAAAGAAA	0.363																																																	0													23	22	22					X																	92964950		2200	4291	6491	SO:0001589	frameshift_variant	0			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.532delA	X.37:g.92964950delA	ENSP00000348067:p.Lys179fs			Frame_Shift_Del	DEL	NULL	p.R180fs	ENST00000355813.5	37	c.532	CCDS14466.1	X																																																																																			FAM133A	-	NULL	ENSG00000179083		0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1		0	13	0	A	NM_173698		92964950	1	tier1		no_errors	ENST00000322139	ensembl	human	known	74_37	frame_shift_del	66.67	3	6	DEL	0.996	-	-	92964950	A	-	92964950	7	5	58	1	0	1	0	1	0	0	0	0	5462	131	5	0	534	0	FAM133A	23	92964950	Frame_Shift_Del	DEL	A	TCGA-L5-A4OI-01A-11D-A27G-09	1831832	92964950	62305610	2304	16687											
PCDH19	57526	genome.wustl.edu	37	chrX	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-																															ccaaggcgatcacgtagcccGggggggcgctctcgctgacc																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607																																																	1	Deletion - Frameshift(1)	large_intestine(1)											43	47	46					X																	99662505		2188	4265	6453	SO:0001589	frameshift_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1091delC	X.37:g.99662505delG	ENSP00000362125:p.Pro364fs		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P364fs	ENST00000373034.4	37	c.1091	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165194		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2		0	14	0	G	NM_020766		99662505	-1	tier1		no_errors	ENST00000373034	ensembl	human	known	74_37	frame_shift_del	75.00	2	6	DEL	1.000	-	-	99662505	G	-	99662505	7	5	58	1	0	1	0	1	0	0	0	0	11553	1116	39	0	2379	0	PCDH19	23	99662505	Frame_Shift_Del	DEL	G	TCGA-L5-A4OI-01A-11D-A27G-09	6697555	99662505	55608055	2305	16688											
TCEAL6	158931	genome.wustl.edu	37	chrX	101396161	101396161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggctctccctcagcctttCgctttccctcgcattctgtc	2	15	6	18	2	3	0	1	0	2	0	8	0	4	0	3	1	1	3	3	1	0	3			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:101396161C>T	ENST00000372774.3	-	3	392	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R48Q	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	48	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ctcagcctttcgctttccctc	0.547																																																	0													141	110	121					X																	101396161		2203	4300	6503	SO:0001583	missense	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.143G>A	X.37:g.101396161C>T	ENSP00000361860:p.Arg48Gln		Q5H9J8	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.R48Q	ENST00000372774.3	37	c.143	CCDS43978.1	X	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716737	0.15306	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.22945	1.93;1.93	2.65	-3.01	0.05463	.	1.775360	0.03982	N	0.293499	T	0.13072	0.0317	L	0.29908	0.895	0.09310	N	1	P	0.49090	0.919	B	0.31946	0.138	T	0.26503	-1.0101	10	0.38643	T	0.18	.	4.6492	0.12587	0.457:0.1777:0.3653:0.0	.	48	Q6IPX3-2	.	Q	48	ENSP00000361860:R48Q;ENSP00000361859:R48Q	ENSP00000361859:R48Q	R	-	2	0	TCEAL6	101282817	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.706000	0.05047	-0.909000	0.03852	-0.542000	0.04241	CGA	TCEAL6	-	pfam_TF_A-like/BEX-like	ENSG00000204071		0.547	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	HGNC	protein_coding	OTTHUMT00000057609.1	-	0	94	0	C	NM_001006938		101396161	-1	tier1	-	no_errors	ENST00000372773	ensembl	human	known	74_37	missense	81.33	14	61	SNP	0.000	T	T	101396161	C	T	101396161	3	4	58	1	0	0	0	0	1	0	0	0	15722	884	31	1	412	1	TCEAL6	23	101396161	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1733656	101396161	53874399	2306	16689											
TCEAL5	340543	genome.wustl.edu	37	chrX	102529123	102529123	+	Frame_Shift_Del	DEL	C	C	-																															tccttgggggaatcgtccgtCcccctgtcggtttttctttt																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:102529123delC	ENST00000372680.1	-	3	663	c.369delG	c.(367-369)gggfs	p.G123fs		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AATCGTCCGTCCCCCTGTCGG	0.577																																																	0													140	126	131					X																	102529123		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.369delG	X.37:g.102529123delC	ENSP00000361765:p.Gly123fs		A2RUJ4	Frame_Shift_Del	DEL	pfam_TF_A-like/BEX-like	p.T124fs	ENST00000372680.1	37	c.369	CCDS35356.1	X																																																																																			TCEAL5	-	pfam_TF_A-like/BEX-like	ENSG00000204065		0.577	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL5	HGNC	protein_coding	OTTHUMT00000057696.1		0	65	0	C	XM_291334		102529123	-1	tier1		no_errors	ENST00000372680	ensembl	human	known	74_37	frame_shift_del	69.84	19	44	DEL	0.000	-	-	102529123	C	-	102529123	7	5	58	1	0	1	0	1	0	0	0	0	15721	842	30	0	255	0	TCEAL5	23	102529123	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	1132962	102529123	52741437	2307	16690											
MUM1L1	139221	genome.wustl.edu	37	chrX	105451090	105451090	+	Frame_Shift_Del	DEL	C	C	-																															cgggaccgagccaacaagaaCctggtggacttcattgtgaa																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:105451090delC	ENST00000357175.2	+	4	2314	c.1665delC	c.(1663-1665)aacfs	p.N555fs	MUM1L1_ENST00000337685.2_Frame_Shift_Del_p.N555fs|MUM1L1_ENST00000372552.1_Frame_Shift_Del_p.N555fs	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	555						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAACAAGAACCTGGTGGACT	0.473																																																	0													50	44	46					X																	105451090		1874	4087	5961	SO:0001589	frameshift_variant	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1665delC	X.37:g.105451090delC	ENSP00000349699:p.Asn555fs		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Frame_Shift_Del	DEL	superfamily_PyrdxlP-dep_Trfase	p.L556fs	ENST00000357175.2	37	c.1665	CCDS55469.1	X																																																																																			MUM1L1	-	NULL	ENSG00000157502		0.473	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1		0	16	0	C	NM_152423		105451090	1	tier1		no_errors	ENST00000337685	ensembl	human	known	74_37	frame_shift_del	66.67	3	6	DEL	0.387	-	-	105451090	C	-	105451090	7	5	58	1	0	1	0	1	0	0	0	0	10024	506	18	0	1667	0	MUM1L1	23	105451090	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	2921967	105451090	49819470	2308	16691											
MUM1L1	139221	genome.wustl.edu	37	chrX	105451232	105451232	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaacatactttgaggatGaagatcagttggatgaagtg	14	12	12	3	0	1	5	1	4	0	1	1	7	1	7	0	2	2	1	0	2	4	4			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:105451232G>T	ENST00000357175.2	+	4	2456	c.1807G>T	c.(1807-1809)Gaa>Taa	p.E603*	MUM1L1_ENST00000337685.2_Nonsense_Mutation_p.E603*|MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.E603*	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	603						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTTGAGGATGAAGATCAGTT	0.328																																																	0													43	38	40					X																	105451232		1858	4093	5951	SO:0001587	stop_gained	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1807G>T	X.37:g.105451232G>T	ENSP00000349699:p.Glu603*		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Nonsense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.E603*	ENST00000357175.2	37	c.1807	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	43	10.522903	0.99421	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	.	.	.	5.08	5.08	0.68730	.	0.240082	0.29145	N	0.013007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.7185	12.7039	0.57049	0.0:0.0:1.0:0.0	.	.	.	.	X	603	.	ENSP00000338641:E603X	E	+	1	0	MUM1L1	105337888	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.573000	0.74009	2.494000	0.84150	0.600000	0.82982	GAA	MUM1L1	-	superfamily_PyrdxlP-dep_Trfase	ENSG00000157502		0.328	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	-	0	19	0	G	NM_152423		105451232	1	tier1	-	no_errors	ENST00000337685	ensembl	human	known	74_37	nonsense	15.79	16	3	SNP	1.000	T	T	105451232	G	T	105451232	4	4	58	1	0	0	0	0	0	1	0	0	10024	1291	45	3	1809	3	MUM1L1	23	105451232	Nonsense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	142	105451232	49819328	2309	16692											
RNF128	79589	genome.wustl.edu	37	chrX	106031215	106031215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaccaaatgatttggtacGcatcttaacgtgcaagtaag	15	11	8	7	2	1	1	0	1	1	0	1	1	1	1	1	1	4	4	1	1	7	5			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:106031215G>T	ENST00000255499.2	+	4	1122	c.872G>T	c.(871-873)cGc>cTc	p.R291L	RNF128_ENST00000324342.3_Missense_Mutation_p.R265L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	291					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GATTTGGTACGCATCTTAACG	0.338																																																	0													210	165	180					X																	106031215		2202	4300	6502	SO:0001583	missense	0			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"RING-type (C3HC4) zinc fingers"	21153	protein-coding gene	gene with protein product		300439	"ring finger protein 128"				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.872G>T	X.37:g.106031215G>T	ENSP00000255499:p.Arg291Leu		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R291L	ENST00000255499.2	37	c.872	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320190	0.60634	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.69175	-0.38;0.98;0.98	5.26	5.26	0.73747	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.181461	0.48286	D	0.000184	T	0.80518	0.4638	M	0.66506	2.035	0.58432	D	0.999996	D;D	0.76494	0.999;0.977	D;P	0.81914	0.995;0.884	T	0.82900	-0.0228	10	0.87932	D	0	.	16.402	0.83643	0.0:0.0:1.0:0.0	.	291;265	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	L	238;265;291	ENSP00000412610:R238L;ENSP00000316127:R265L;ENSP00000255499:R291L	ENSP00000255499:R291L	R	+	2	0	RNF128	105917871	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.553000	0.67287	2.178000	0.69098	0.594000	0.82650	CGC	RNF128	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000133135		0.338	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	-	0	63	0	G	NM_024539		106031215	1	tier1	-	no_errors	ENST00000255499	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	106031215	G	T	106031215	3	4	58	1	0	0	0	0	1	0	0	0	13481	1087	38	2	1296	2	RNF128	23	106031215	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	579983	106031215	49239345	2310	16693											
COL4A5	1287	genome.wustl.edu	37	chrX	107929267	107929267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttcctgtaggtccaaCtggccctccaggagatcctg	6	13	9	13	0	1	1	0	0	1	1	5	2	5	1	5	3	1	1	5	3	2	4	rs151278542	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:107929267C>T	ENST00000361603.2	+	46	4449	c.4205C>T	c.(4204-4206)aCt>aTt	p.T1402I	COL4A5_ENST00000328300.6_Missense_Mutation_p.T1408I	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1402	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTAGGTCCAACTGGCCCTCCA	0.498									Alport syndrome with Diffuse Leiomyomatosis																																								0													57	49	51					X																	107929267		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4205C>T	X.37:g.107929267C>T	ENSP00000354505:p.Thr1402Ile		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.T1408I	ENST00000361603.2	37	c.4223	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025505	0.19512	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95885	-3.84;-3.84	5.14	0.951	0.19579	.	0.570912	0.19451	N	0.113940	D	0.90765	0.7101	L	0.46157	1.445	0.19300	N	0.999974	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81638	-0.0842	10	0.48119	T	0.1	.	4.9193	0.13862	0.1463:0.2906:0.0:0.5632	.	1405;1402	E7EVY4;P29400	.;CO4A5_HUMAN	I	1408;1402;1408	ENSP00000331902:T1408I;ENSP00000354505:T1402I	ENSP00000331902:T1408I	T	+	2	0	COL4A5	107815923	0.969000	0.33509	0.968000	0.41197	0.595000	0.36748	0.656000	0.24948	-0.059000	0.13154	-0.354000	0.07668	ACT	COL4A5	-	pfam_Collagen	ENSG00000188153		0.498	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0	32	0	C			107929267	1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.781	T	T	107929267	C	T	107929267	3	4	58	1	0	0	0	0	1	0	0	0	3701	565	20	3	4398	3	COL4A5	23	107929267	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1898052	107929267	47341293	2311	16694											
CAPN6	827	genome.wustl.edu	37	chrX	110495579	110495579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctttggtaaatgttttgtAcagttctccgaatagcttgt	9	17	8	7	1	1	0	0	0	1	0	2	1	1	0	2	1	2	5	2	1	5	8			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:110495579A>G	ENST00000324068.1	-	5	822	c.655T>C	c.(655-657)Tac>Cac	p.Y219H	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	219	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AATGTTTTGTACAGTTCTCCG	0.423																																																	0													158	116	130					X																	110495579		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.655T>C	X.37:g.110495579A>G	ENSP00000317214:p.Tyr219His		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y219H	ENST00000324068.1	37	c.655	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893834	0.33442	.	.	ENSG00000077274	ENST00000324068	D	0.87179	-2.22	5.97	3.52	0.40303	Peptidase C2, calpain, catalytic domain (3);	0.444283	0.25047	N	0.033549	T	0.65954	0.2741	N	0.03071	-0.42	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55515	-0.8129	10	0.33940	T	0.23	.	2.9351	0.05811	0.4429:0.0:0.1565:0.4005	.	219	Q9Y6Q1	CAN6_HUMAN	H	219	ENSP00000317214:Y219H	ENSP00000317214:Y219H	Y	-	1	0	CAPN6	110382235	0.995000	0.38212	1.000000	0.80357	0.988000	0.76386	1.610000	0.36869	0.795000	0.33922	0.486000	0.48141	TAC	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000077274		0.423	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0	38	0	A			110495579	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	missense	76.47	8	26	SNP	1.000	G	G	110495579	A	G	110495579	3	3	58	1	0	0	0	0	1	0	0	0	2637	391	14	4	1306	4	CAPN6	23	110495579	Missense_Mutation	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	2566312	110495579	44774981	2312	16695											
ALG13	79868	genome.wustl.edu	37	chrX	110987996	110987996	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaccaccaccaccAcctcctcctcctcctcctcc	7	6	0	28	0	0	0	0	0	0	0	6	0	6	0	14	0	0	0	14	0	0	0	rs56717389		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:110987996A>T	ENST00000394780.3	+	24	2808	c.2796A>T	c.(2794-2796)ccA>ccT	p.P932P	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	932	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P932P(7)		endometrium(2)|lung(10)|skin(1)	13						caccaccaccacctcctcctc	0.567																																																	7	Substitution - coding silent(7)	endometrium(7)											10	8	8					X																	110987996		1493	3408	4901	SO:0001819	synonymous_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2796A>T	X.37:g.110987996A>T			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor	p.P932	ENST00000394780.3	37	c.2796	CCDS55477.1	X																																																																																			ALG13	-	NULL	ENSG00000101901		0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	-	0	9	0	A	NM_018466		110987996	1	tier1	-	no_errors	ENST00000394780	ensembl	human	putative	74_37	silent	57.14	3	4	SNP	0.007	T	T	110987996	A	T	110987996	2	4	58	1	0	0	0	0	0	0	0	1	515	146	6	5		5	ALG13	23	110987996	Silent	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	492417	110987996	44282564	2313	16696											
DCAF12L1	139170	genome.wustl.edu	37	chrX	125686220	125686220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgtggcctgactccacGtccaccacgaaaagcgtgtt	9	8	11	13	4	0	1	0	1	0	0	2	3	2	1	4	1	1	1	4	1	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:125686220G>A	ENST00000371126.1	-	1	614	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	124										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGACTCCACGTCCACCACGA	0.622																																																	0													123	92	103					X																	125686220		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"WD repeat domain containing"	29395	protein-coding gene	gene with protein product			"WD repeat domain 40B"	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.372C>T	X.37:g.125686220G>A			Q8IYK3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D124	ENST00000371126.1	37	c.372	CCDS14610.1	X																																																																																			DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.622	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0	48	0	G	NM_178470		125686220	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	silent	75.61	10	31	SNP	0.996	A	A	125686220	G	A	125686220	2	1	58	1	0	0	0	0	0	0	0	1	4273	1136	40	1		1	DCAF12L1	23	125686220	Silent	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	14698224	125686220	29584340	2314	16697											
BCORL1	63035	genome.wustl.edu	37	chrX	129149744	129149744	+	Frame_Shift_Del	DEL	C	C	-																															ccatgagctggtcctggccaCcccccagaacctgcctaaga																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:129149744delC	ENST00000218147.7	+	4	3193	c.2996delC	c.(2995-2997)accfs	p.T999fs	BCORL1_ENST00000540052.1_Frame_Shift_Del_p.T999fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.T999fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.T999fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	999					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTCCTGGCCACCCCCCAGAAC	0.607																																																	0													78	79	79					X																	129149744		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2996delC	X.37:g.129149744delC	ENSP00000218147:p.Thr999fs		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1001fs	ENST00000218147.7	37	c.2996	CCDS14616.1	X																																																																																			BCORL1	-	NULL	ENSG00000085185		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1		0	53	0	C	NM_021946		129149744	1	tier1		no_errors	ENST00000303743	ensembl	human	known	74_37	frame_shift_del	64.00	9	16	DEL	0.986	-	-	129149744	C	-	129149744	7	5	58	1	0	1	0	1	0	0	0	0	1388	507	18	0	3006	0	BCORL1	23	129149744	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	3463524	129149744	26120816	2315	16698											
GPR101	83550	genome.wustl.edu	37	chrX	136113358	136113358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggagtgctctgcaggatgGccacaatccaggtgccatag	10	7	14	10	0	1	0	0	0	1	0	2	3	2	2	3	4	3	2	3	4	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:136113358G>A	ENST00000298110.1	-	1	475	c.476C>T	c.(475-477)gCc>gTc	p.A159V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGCAGGATGGCCACAATCCA	0.607																																																	0													54	43	47					X																	136113358		2203	4300	6503	SO:0001583	missense	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.476C>T	X.37:g.136113358G>A	ENSP00000298110:p.Ala159Val		Q5JSM8|Q8NG93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A159V	ENST00000298110.1	37	c.476	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139039	0.77775	.	.	ENSG00000165370	ENST00000298110	T	0.40756	1.02	5.04	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33610	N	0.004736	T	0.57666	0.2069	M	0.67569	2.06	0.37335	D	0.91015	D	0.69078	0.997	D	0.67725	0.953	T	0.66122	-0.6002	10	0.87932	D	0	-21.9467	9.8482	0.41039	0.0:0.4043:0.5957:0.0	.	159	Q96P66	GP101_HUMAN	V	159	ENSP00000298110:A159V	ENSP00000298110:A159V	A	-	2	0	GPR101	135941024	0.959000	0.32827	1.000000	0.80357	0.986000	0.74619	3.143000	0.50608	2.081000	0.62600	0.600000	0.82982	GCC	GPR101	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000165370		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	-	0	39	0	G			136113358	-1	tier1	-	no_errors	ENST00000298110	ensembl	human	known	74_37	missense	80.65	6	25	SNP	1.000	A	A	136113358	G	A	136113358	3	1	58	1	0	0	0	0	1	0	0	0	6648	1203	42	3	1053	3	GPR101	23	136113358	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	6963614	136113358	19157202	2316	16699											
MAGEC1	9947	genome.wustl.edu	37	chrX	140994824	140994824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaggactccctgtctcCtcactactttcctcagagcc	6	11	9	15	0	3	1	2	0	1	1	6	3	5	3	4	2	2	0	4	2	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:140994824C>A	ENST00000285879.4	+	4	1920	c.1634C>A	c.(1633-1635)cCt>cAt	p.P545H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	545										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGTCTCCTCACTACTTT	0.562										HNSCC(15;0.026)																																							0													175	186	182					X																	140994824		2203	4300	6503	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1634C>A	X.37:g.140994824C>A	ENSP00000285879:p.Pro545His		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P545H	ENST00000285879.4	37	c.1634	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	8.563	0.878220	0.17395	.	.	ENSG00000155495	ENST00000285879	T	0.08896	3.04	0.96	-1.92	0.07618	.	.	.	.	.	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.28364	-1.0046	9	0.87932	D	0	.	5.3893	0.16236	0.5594:0.4406:0.0:0.0	.	545	O60732	MAGC1_HUMAN	H	545	ENSP00000285879:P545H	ENSP00000285879:P545H	P	+	2	0	MAGEC1	140822490	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.099000	0.11007	-1.116000	0.02969	-1.104000	0.02111	CCT	MAGEC1	-	NULL	ENSG00000155495		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	43	0	C	NM_005462		140994824	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	71.88	9	23	SNP	0.001	A	A	140994824	C	A	140994824	3	1	58	1	0	0	0	0	1	0	0	0	9218	681	24	3	1640	3	MAGEC1	23	140994824	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	4881466	140994824	14275736	2317	16700											
MAMLD1	10046	genome.wustl.edu	37	chrX	149638719	149638719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggccatgctccctgtcGctctgccccccttaccagtg	4	10	8	19	1	1	0	0	0	1	0	4	0	3	0	7	1	3	2	7	1	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:149638719G>A	ENST00000370401.2	+	4	1184	c.874G>A	c.(874-876)Gct>Act	p.A292T	MAMLD1_ENST00000426613.2_Missense_Mutation_p.A267T|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.A292T|MAMLD1_ENST00000432680.2_Missense_Mutation_p.A267T			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	292					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCCTGTCGCTCTGCCCCC	0.587																																																	0													84	67	73					X																	149638719		2203	4300	6503	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.874G>A	X.37:g.149638719G>A	ENSP00000359428:p.Ala292Thr		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.A267T	ENST00000370401.2	37	c.799	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.141378	0.00332	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.63744	0.34;-0.06;0.34;0.34	5.23	-1.93	0.07594	.	0.655350	0.15184	N	0.275970	T	0.33323	0.0859	N	0.15975	0.35	0.09310	N	0.999999	B;B;B;B	0.10296	0.0;0.0;0.003;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.10337	-1.0634	9	.	.	.	-0.2041	2.7991	0.05409	0.3299:0.1337:0.4173:0.1192	.	254;267;267;292	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	T	254;292;267;292;267	ENSP00000359428:A292T;ENSP00000414517:A267T;ENSP00000262858:A292T;ENSP00000397438:A267T	.	A	+	1	0	MAMLD1	149389377	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.512000	0.06313	-0.265000	0.09352	-0.513000	0.04457	GCT	MAMLD1	-	NULL	ENSG00000013619		0.587	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0	8	0	G	NM_005491		149638719	1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	81.82	2	9	SNP	0.000	A	A	149638719	G	A	149638719	3	1	58	1	0	0	0	0	1	0	0	0	9246	1087	38	1	884	1	MAMLD1	23	149638719	Missense_Mutation	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09	8643895	149638719	5631841	2318	16701											
MAGEA10	4109	genome.wustl.edu	37	chrX	151303084	151303084	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgggctctctcttcctCatctttcaaagcctcctcat	5	15	5	16	0	6	0	3	0	3	0	10	0	9	0	4	1	1	1	4	1	1	2			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:151303084C>A	ENST00000370323.4	-	4	1325	c.1009G>T	c.(1009-1011)Gag>Tag	p.E337*	MAGEA10_ENST00000244096.3_Nonsense_Mutation_p.E337*|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	337						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCTTCCTCATCTTTCAAA	0.473																																																	0													185	157	166					X																	151303084		2203	4300	6503	SO:0001587	stop_gained	0				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.1009G>T	X.37:g.151303084C>A	ENSP00000359347:p.Glu337*			Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E337*	ENST00000370323.4	37	c.1009	CCDS14705.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.264936	0.97426	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	.	.	.	2.18	1.26	0.21427	.	0.390556	0.23070	N	0.052261	.	.	.	.	.	.	0.34424	D	0.69782	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9665	0.19328	0.0:0.6758:0.3242:0.0	.	.	.	.	X	337	.	ENSP00000244096:E337X	E	-	1	0	MAGEA10	151053740	0.000000	0.05858	0.002000	0.10522	0.738000	0.42128	0.124000	0.15728	0.332000	0.23536	0.292000	0.19580	GAG	MAGEA10	-	NULL	ENSG00000124260		0.473	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGEA10	HGNC	protein_coding	OTTHUMT00000060916.3		0	26	0	C	NM_021048		151303084	-1			no_errors	ENST00000244096	ensembl	human	known	74_37	nonsense	10.00	27	3	SNP	0.002	A	A	151303084	C	A	151303084	4	1	58	1	0	0	0	0	0	1	0	0	9200	835	29	3	104	3	MAGEA10	23	151303084	Nonsense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	1664365	151303084	3967476	2319	16702											
ZNF185	7739	genome.wustl.edu	37	chrX	152105006	152105006	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcctggaagaccaggAtgggcacagtgccaactctc	9	9	10	13	0	2	1	0	0	2	1	4	3	3	3	3	3	2	1	3	3	2	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:152105006A>G	ENST00000370268.4	+	15	1155				ZNF185_ENST00000539731.1_Missense_Mutation_p.D359G|ZNF185_ENST00000449285.2_Intron|ZNF185_ENST00000370270.2_Missense_Mutation_p.D388G|ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000535861.1_Missense_Mutation_p.D388G|ZNF185_ENST00000318529.8_Intron			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACCAGGATGGGCACAGT	0.552																																																	0																																										SO:0001627	intron_variant	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1119-1612A>G	X.37:g.152105006A>G			A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.D388G	ENST00000370268.4	37	c.1163	CCDS48184.1	X	.	.	.	.	.	.	.	.	.	.	A	8.163	0.790037	0.16258	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000436731	T;T	0.58358	0.34;0.35	3.14	0.641	0.17759	.	.	.	.	.	T	0.25494	0.0620	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.16070	-1.0415	9	0.23891	T	0.37	.	3.1001	0.06323	0.6114:0.2477:0.1409:0.0	.	359;388	F5GZL4;F5GXF7	.;.	G	388;359;61	ENSP00000440847:D388G;ENSP00000444367:D359G	ENSP00000391272:D61G	D	+	2	0	ZNF185	151855662	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	0.444000	0.21661	0.062000	0.16340	0.444000	0.29173	GAT	ZNF185	-	NULL	ENSG00000147394		0.552	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	-	0	21	0	A	NM_007150		152105006	1	tier1	-	no_errors	ENST00000370270	ensembl	human	known	74_37	missense	88.00	3	22	SNP	0.000	G	G	152105006	A	G	152105006	1	3	58	0	1	0	0	0	0	0	0	0	17800	333	12	4		4	ZNF185	23	152105006	Intron	SNP	A	TCGA-L5-A4OI-01A-11D-A27G-09	801922	152105006	3165554	2320	16703											
PLXNB3	5365	genome.wustl.edu	37	chrX	153035373	153035373	+	Frame_Shift_Del	DEL	C	C	-																															agcctgctgccgggccaccaCccccgccaggagcagggcca																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:153035373delC	ENST00000361971.5	+	7	1722	c.1608delC	c.(1606-1608)cacfs	p.H536fs	PLXNB3_ENST00000538966.1_Frame_Shift_Del_p.H559fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.H189fs|PLXNB3_ENST00000538543.1_Frame_Shift_Del_p.H86fs|PLXNB3_ENST00000538282.1_Frame_Shift_Del_p.H146fs	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	536					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCCACCACCCCCGCCAGG	0.692																																																	0													18	19	19					X																	153035373		2190	4286	6476	SO:0001589	frameshift_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1608delC	X.37:g.153035373delC	ENSP00000355378:p.His536fs		B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R561fs	ENST00000361971.5	37	c.1677	CCDS14729.1	X																																																																																			PLXNB3	-	NULL	ENSG00000198753		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1		0	23	0	C			153035373	1	tier1		no_errors	ENST00000538966	ensembl	human	known	74_37	frame_shift_del	83.33	3	15	DEL	0.991	-	-	153035373	C	-	153035373	7	5	58	1	0	1	0	1	0	0	0	0	12164	506	18	0	1748	0	PLXNB3	23	153035373	Frame_Shift_Del	DEL	C	TCGA-L5-A4OI-01A-11D-A27G-09	930367	153035373	2235187	2321	16704											
RENBP	5973	genome.wustl.edu	37	chrX	153209096	153209096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccttgaccgggcggcCgtcccgagtcagcacaaagg	8	5	13	15	4	1	1	1	1	0	0	2	2	2	1	4	3	2	2	4	3	1	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:153209096C>T	ENST00000393700.3	-	5	444	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	RENBP_ENST00000369997.3_Missense_Mutation_p.G108S|RENBP_ENST00000412763.1_Missense_Mutation_p.G122S|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	122					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCGGGCGGCCGTCCCGAGTC	0.607																																																	0													122	85	98					X																	153209096		2203	4300	6503	SO:0001583	missense	0				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"N-acylglucosamine 2-epimerase", "GlcNAc 2-epimerase", "N-acetyl-D-glucosamine 2-epimerase"	312420	"renin-binding protein"			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.364G>A	X.37:g.153209096C>T	ENSP00000377303:p.Gly122Ser		B4DNZ3|Q96BI6	Missense_Mutation	SNP	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	p.G122S	ENST00000393700.3	37	c.364	CCDS14738.2	X	.	.	.	.	.	.	.	.	.	.	C	33	5.277487	0.95459	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.39997	1.05;1.12;1.05	4.68	4.68	0.58851	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81951	-0.0698	10	0.87932	D	0	-21.0219	15.719	0.77694	0.0:1.0:0.0:0.0	.	122;122	P51606-2;P51606	.;RENBP_HUMAN	S	122;122;108	ENSP00000377303:G122S;ENSP00000387811:G122S;ENSP00000359014:G108S	ENSP00000359014:G108S	G	-	1	0	RENBP	152862290	1.000000	0.71417	0.514000	0.27761	0.943000	0.58893	6.683000	0.74533	2.042000	0.60477	0.513000	0.50165	GGC	RENBP	-	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	ENSG00000102032		0.607	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RENBP	HGNC	protein_coding	OTTHUMT00000061103.3	-	0	31	0	C	NM_002910		153209096	-1	tier1	-	no_errors	ENST00000393700	ensembl	human	known	74_37	missense	82.35	3	14	SNP	1.000	T	T	153209096	C	T	153209096	3	4	58	1	0	0	0	0	1	0	0	0	13270	652	23	1	947	1	RENBP	23	153209096	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	173723	153209096	2061464	2322	16705											
F8	2157	genome.wustl.edu	37	chrX	154194908	154194908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttcattatttttcattCgtagttggggttcctctgga	5	20	8	8	1	4	0	2	0	2	0	6	1	5	1	1	3	0	3	1	3	2	9	rs146581224	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:154194908C>T	ENST00000360256.4	-	8	1264	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	355					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTTTCATTCGTAGTTGGGG	0.403																																																	0								C	GLN/ARG	1,3834		0,1,0,1631,571	152	122	132		1064	1.7	0	X	dbSNP_134	132	4,6724		0,3,1,2425,1871	yes	missense	F8	NM_000132.3	43	0,4,1,4056,2442	TT,TC,T,CC,C		0.0595,0.0261,0.0473	benign	355/2352	154194908	5,10558	2203	4300	6503	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1064G>A	X.37:g.154194908C>T	ENSP00000353393:p.Arg355Gln		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R355Q	ENST00000360256.4	37	c.1064	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	5.762	0.324991	0.10900	2.61E-4	5.95E-4	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	5.13	1.73	0.24493	.	0.421653	0.23650	N	0.045931	D	0.94420	0.8205	N	0.25890	0.77	0.09310	N	1	B	0.18166	0.026	B	0.06405	0.002	D	0.86482	0.1792	10	0.15952	T	0.53	-1.5205	6.9212	0.24389	0.0:0.4482:0.0:0.5518	.	355	P00451	FA8_HUMAN	Q	355	ENSP00000353393:R355Q	ENSP00000353393:R355Q	R	-	2	0	F8	153848102	0.385000	0.25172	0.000000	0.03702	0.491000	0.33493	1.073000	0.30691	0.279000	0.22186	-0.344000	0.07964	CGA	F8	-	NULL	ENSG00000185010		0.403	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-	0	35	0	C			154194908	-1	tier1	rs146581224	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	79.41	7	27	SNP	0.001	T	T	154194908	C	T	154194908	3	4	58	1	0	0	0	0	1	0	0	0	5366	884	31	1	6095	1	F8	23	154194908	Missense_Mutation	SNP	C	TCGA-L5-A4OI-01A-11D-A27G-09	985812	154194908	1075652	2323	16706											
NLGN4Y	22829	genome.wustl.edu	37	chrY	16952604	16952604	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatggccaaccaccaaacGcccagcaatcactcctgcca	13	5	6	17	1	1	0	1	0	0	0	2	1	2	0	6	1	4	1	6	1	4	1			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrY:16952604G>A	ENST00000476359.1	+	0	2458							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ACCACCAAACGCCCAGCAATC	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2455G>A	Y.37:g.16952604G>A			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	pfam_CarbesteraseB,prints_Neuroligin	p.R695H	ENST00000476359.1	37	c.2084		Y																																																																																			NLGN4Y	-	NULL	ENSG00000165246		0.502	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2		0	126	0	G	NM_014893		16952604	1			no_errors	ENST00000382868	ensembl	human	known	74_37	missense	10.22	123	14	SNP	1.000	A	A	16952604	G	A	16952604	1	1	58	0	1	0	0	0	0	0	0	0	10504	1087	38	1		1	NLGN4Y	24	16952604	3'UTR	SNP	G	TCGA-L5-A4OI-01A-11D-A27G-09		16952604	42420962	2324	16707											
NLGN4Y	22829	genome.wustl.edu	37	chrY	16953112	16953113	+	3'UTR	INS	-	-	C																															gacaaaacagtacaaatttaINSccccacggacattccaccac																										TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrY:16953112_16953113insC	ENST00000476359.1	+	0	2966_2967							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GTACAAATTTACCCCACGGACA	0.441																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2964->C	Y.37:g.16953116_16953116dupC			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Frame_Shift_Ins	INS	pfam_CarbesteraseB,prints_Neuroligin	p.H865fs	ENST00000476359.1	37	c.2592_2593		Y																																																																																			NLGN4Y	-	NULL	ENSG00000165246		0.441	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2		0	59	0	-	NM_014893		16953113	1	tier1		no_errors	ENST00000382868	ensembl	human	known	74_37	frame_shift_ins	80.00	10	40	INS	0.997:1.000	C	C	16953113	-	C	16953112	6	5	58	0	1	1	1	0	0	0	0	0	10504	388	14	0		0	NLGN4Y	24	16953112	3'UTR	INS	-	TCGA-L5-A4OI-01A-11D-A27G-09	508	16953112	42420454	2325	16708											
TAS1R3	83756	genome.wustl.edu	37	chr1	1269397	1269397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacctggtggccttcccGccggaggtggtgacggactg	4	9	17	11	3	0	1	0	1	0	0	1	3	1	3	4	7	1	1	4	7	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:1269397G>A	ENST00000339381.5	+	6	2144	c.2112G>A	c.(2110-2112)ccG>ccA	p.P704P		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	704					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		TGGCCTTCCCGCCGGAGGTGG	0.701																																																	0													28	24	26					1																	1269397		2197	4296	6493	SO:0001819	synonymous_variant	0			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.2112G>A	1.37:g.1269397G>A			Q5TA49|Q8NGW9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.P704	ENST00000339381.5	37	c.2112	CCDS30556.1	1																																																																																			TAS1R3	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000169962		0.701	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	-	0	29	0	G			1269397	1	tier1	-	no_errors	ENST00000339381	ensembl	human	known	74_37	silent	30.30	23	10	SNP	0.000	A	A	1269397	G	A	1269397	2	1	59	1	0	0	0	0	0	0	0	1	15611	1074	38	1		1	TAS1R3	1	1269397	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		1269397	247981224	1	16709											
CAMTA1	23261	genome.wustl.edu	37	chr1	7792537	7792537	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggatgtccatcctggaaCgactggagcagatggagagg	11	7	15	8	1	1	2	1	0	0	2	3	7	3	5	2	5	2	1	2	5	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:7792537C>T	ENST00000303635.7	+	12	3151	c.2944C>T	c.(2944-2946)Cga>Tga	p.R982*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.R982*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	982					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATCCTGGAACGACTGGAGCA	0.612			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													61	64	63					1																	7792537		2203	4300	6503	SO:0001587	stop_gained	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2944C>T	1.37:g.7792537C>T	ENSP00000306522:p.Arg982*		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Nonsense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.R982*	ENST00000303635.7	37	c.2944	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	C	42	9.771968	0.99260	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	.	.	.	5.52	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4188	15.9496	0.79823	0.2569:0.7431:0.0:0.0	.	.	.	.	X	982;982;69	.	ENSP00000306522:R982X	R	+	1	2	CAMTA1	7715124	1.000000	0.71417	0.551000	0.28230	0.985000	0.73830	6.018000	0.70811	1.305000	0.44909	0.557000	0.71058	CGA	CAMTA1	-	NULL	ENSG00000171735		0.612	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3		0	14	0	C	NM_015215		7792537	1			no_errors	ENST00000303635	ensembl	human	known	74_37	nonsense	20.00	20	5	SNP	1.000	T	T	7792537	C	T	7792537	4	4	59	1	0	0	0	0	0	1	0	0	2620	528	19	1	2990	1	CAMTA1	1	7792537	Nonsense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	6523140	7792537	241458084	2	16710											
PEX14	5195	genome.wustl.edu	37	chr1	10596278	10596278	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctcaccagattgccacGgcagtgaagtttctacagaa	11	10	8	12	1	3	3	1	1	2	2	4	3	3	3	2	1	2	2	2	1	3	3	rs139797106		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:10596278G>T	ENST00000356607.4	+	3	173	c.93G>T	c.(91-93)acG>acT	p.T31T	PEX14_ENST00000538836.1_Intron|PEX14_ENST00000492696.1_3'UTR	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	31					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGATTGCCACGGCAGTGAAGT	0.463																																																	0													54	55	55					1																	10596278		2203	4300	6503	SO:0001819	synonymous_variant	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.93G>T	1.37:g.10596278G>T			B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	pfam_Pex14_N	p.T31	ENST00000356607.4	37	c.93	CCDS30582.1	1																																																																																			PEX14	-	pfam_Pex14_N	ENSG00000142655		0.463	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1		0	26	0	G			10596278	1			no_errors	ENST00000356607	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.895	T	T	10596278	G	T	10596278	2	4	59	1	0	0	0	0	0	0	0	1	11781	1103	39	2		2	PEX14	1	10596278	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2803741	10596278	238654343	3	16711											
PRAMEF10	343071	genome.wustl.edu	37	chr1	12953256	12953256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactccatgtcccgatcagTtaggtaagcatcactgaata	13	10	7	11	1	2	1	2	1	0	0	4	2	4	1	2	1	1	3	2	1	4	3	rs16850103		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:12953256T>C	ENST00000235347.4	-	4	995	c.916A>G	c.(916-918)Act>Gct	p.T306A		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	306			T -> A (in dbSNP:rs848424). {ECO:0000269|PubMed:15489334}.		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCGATCAGTTAGGTAAGCA	0.507																																																	0													1	1	1					1																	12953256		13	126	139	SO:0001583	missense	0			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.916A>G	1.37:g.12953256T>C	ENSP00000235347:p.Thr306Ala		Q2M1V2	Missense_Mutation	SNP	NULL	p.T306A	ENST00000235347.4	37	c.916	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	2.772	-0.255461	0.05829	.	.	ENSG00000187545	ENST00000235347	T	0.52057	0.68	1.92	-2.86	0.05717	.	0.993100	0.08177	N	0.986060	T	0.26376	0.0644	N	0.21373	0.66	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	10	0.34782	T	0.22	.	2.1493	0.03795	0.4786:0.1708:0.0:0.3506	.	306	O60809	PRA10_HUMAN	A	306	ENSP00000235347:T306A	ENSP00000235347:T306A	T	-	1	0	PRAMEF10	12875843	0.000000	0.05858	0.000000	0.03702	0.340000	0.28889	-2.129000	0.01313	-0.680000	0.05211	0.163000	0.16589	ACT	PRAMEF10	-	NULL	ENSG00000187545		0.507	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	-	0	16	0	T	XM_496342		12953256	-1	tier1	rs199702833	no_errors	ENST00000235347	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.000	C	C	12953256	T	C	12953256	3	2	59	1	0	0	0	0	1	0	0	0	12468	1725	60	4	512	4	PRAMEF10	1	12953256	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	2356978	12953256	236297365	4	16712											
CELA2B	51032	genome.wustl.edu	37	chr1	15813780	15813780	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataactctggccttcctcagGgagactccggtgggccgctg	6	9	13	13	2	2	1	1	0	1	1	4	2	4	1	4	4	1	1	4	4	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:15813780G>T	ENST00000375910.3	+	7	665	c.640G>T	c.(640-642)Gga>Tga	p.G214*		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	214	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CCTTCCTCAGGGAGACTCCGG	0.562																																																	0													72	72	72					1																	15813780		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"pancreatic elastase IIB"	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.640-1G>T	1.37:g.15813780G>T			Q14D16|Q6ISM5|Q96QV5	Nonsense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G214*	ENST00000375910.3	37	c.640	CCDS30605.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.283974	0.95489	.	.	ENSG00000215704	ENST00000375910	.	.	.	4.73	4.73	0.59995	.	0.000000	0.56097	U	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6055	0.76668	0.0:0.0:1.0:0.0	.	.	.	.	X	214	.	.	G	+	1	0	CELA2B	15686367	1.000000	0.71417	0.987000	0.45799	0.763000	0.43281	9.475000	0.97721	2.315000	0.78130	0.597000	0.82753	GGA	CELA2B	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000215704		0.562	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2B	HGNC	protein_coding	OTTHUMT00000006448.1	-	0	63	0	G	NM_015849	Nonsense_Mutation	15813780	1	tier1	-	no_errors	ENST00000375910	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	T	T	15813780	G	T	15813780	5	4	59	1	0	0	0	0	0	0	1	0	3219	1246	43	3	666	3	CELA2B	1	15813780	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2860524	15813780	233436841	5	16713											
HSPG2	3339	genome.wustl.edu	37	chr1	22172708	22172708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacgtattcacccgagtcgGccggggacacatggtgcagc	9	6	13	13	4	1	0	1	0	0	0	2	2	1	1	2	4	2	2	2	4	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:22172708G>T	ENST00000374695.3	-	64	8436	c.8357C>A	c.(8356-8358)gCc>gAc	p.A2786D		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2786	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCCGAGTCGGCCGGGGACAC	0.637																																																	0													19	22	21					1																	22172708		2200	4297	6497	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8357C>A	1.37:g.22172708G>T	ENSP00000363827:p.Ala2786Asp		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.A2786D	ENST00000374695.3	37	c.8357	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763453	0.49574	.	.	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.13901	2.55;2.82	5.22	4.31	0.51392	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39615	N	0.001303	T	0.22551	0.0544	L	0.41415	1.275	0.34826	D	0.739228	P;P	0.44478	0.836;0.593	P;P	0.56216	0.794;0.7	T	0.20940	-1.0260	10	0.49607	T	0.09	.	11.5345	0.50628	0.0875:0.0:0.9125:0.0	.	726;2786	Q59EG0;P98160	.;PGBM_HUMAN	D	2786;201	ENSP00000363827:A2786D;ENSP00000396310:A201D	ENSP00000363827:A2786D	A	-	2	0	HSPG2	22045295	0.960000	0.32886	0.302000	0.25058	0.662000	0.39071	2.548000	0.45794	1.204000	0.43247	0.561000	0.74099	GCC	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0	51	0	G	NM_005529		22172708	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.680	T	T	22172708	G	T	22172708	3	4	59	1	0	0	0	0	1	0	0	0	7457	1203	42	3	4954	3	HSPG2	1	22172708	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6358928	22172708	227077913	6	16714											
ARID1A	8289	genome.wustl.edu	37	chr1	27101252	27101252	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctataattatgccaacaggCagagcacgggctctgccccc	10	7	9	15	1	1	1	0	0	1	1	1	1	1	1	4	2	4	3	4	2	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:27101252C>T	ENST00000324856.7	+	18	4905	c.4534C>T	c.(4534-4536)Cag>Tag	p.Q1512*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1129*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1512					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCCAACAGGCAGAGCACGGG	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													65	70	68					1																	27101252		2203	4300	6503	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4534C>T	1.37:g.27101252C>T	ENSP00000320485:p.Gln1512*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1512*	ENST00000324856.7	37	c.4534	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.208754|11.208754	0.99531|0.99531	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000374152	.|.	.|.	.|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.112351	.|0.64402	.|D	.|0.000005	T|.	0.75199|.	0.3817|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.71427|.	-0.4596|.	4|.	.|0.37606	.|T	.|0.19	-6.2947|-6.2947	19.6787|19.6787	0.95950|0.95950	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	408|1512;1129	.|.	.|ENSP00000320485:Q1512X	A|Q	+|+	2|1	0|0	ARID1A|ARID1A	26973839|26973839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.228000|7.228000	0.78079|0.78079	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GCA|CAG	ARID1A	-	NULL	ENSG00000117713		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	34	0	C	NM_139135		27101252	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	nonsense	39.53	26	17	SNP	1.000	T	T	27101252	C	T	27101252	4	4	59	1	0	0	0	0	0	1	0	0	913	711	25	3	4604	3	ARID1A	1	27101252	Nonsense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4928544	27101252	222149369	7	16715											
PHACTR4	65979	genome.wustl.edu	37	chr1	28802626	28802626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaatttgttagtccagacGatgaagaagaagaggagcaa	16	9	12	4	1	0	5	0	1	0	4	1	7	1	6	1	1	1	3	1	1	6	3	rs543331485		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:28802626G>T	ENST00000373839.3	+	8	1690	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y	PHACTR4_ENST00000373836.3_Missense_Mutation_p.D487Y|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	477					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TAGTCCAGACGATGAAGAAGA	0.388																																																	0													78	72	74					1																	28802626		1934	4132	6066	SO:0001583	missense	0			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"Phosphatase and actin regulators"	25793	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 124"	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1429G>T	1.37:g.28802626G>T	ENSP00000362945:p.Asp477Tyr		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.D487Y	ENST00000373839.3	37	c.1459	CCDS41293.1	1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679444	0.68042	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.26223	1.76;1.75	5.32	4.41	0.53225	.	0.406012	0.28262	N	0.015982	T	0.47358	0.1441	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.47315	-0.9127	10	0.62326	D	0.03	-6.8407	13.232	0.59949	0.0786:0.0:0.9214:0.0	.	487;477	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	Y	477;487;476	ENSP00000362945:D477Y;ENSP00000362942:D487Y	ENSP00000362942:D487Y	D	+	1	0	PHACTR4	28675213	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.180000	0.58296	1.374000	0.46228	0.655000	0.94253	GAT	PHACTR4	-	NULL	ENSG00000204138		0.388	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4		0	30	0	G	NM_023923		28802626	1			no_errors	ENST00000373836	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	28802626	G	T	28802626	3	4	59	1	0	0	0	0	1	0	0	0	11851	1058	37	2	1505	2	PHACTR4	1	28802626	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1701374	28802626	220447995	8	16716											
SYNC	81493	genome.wustl.edu	37	chr1	33161294	33161294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctccctcataaacaacGtgctctgggcttgtgggctt	6	13	10	12	1	3	0	1	0	2	0	5	0	4	0	1	2	3	3	1	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:33161294G>A	ENST00000409190.3	-	2	863	c.405C>T	c.(403-405)caC>caT	p.H135H	SYNC_ENST00000373484.3_Silent_p.H135H	NM_030786.2	NP_110413	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	135	Head.				intermediate filament-based process (GO:0045103)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CATAAACAACGTGCTCTGGGC	0.577																																																	0													81	72	75					1																	33161294		692	1591	2283	SO:0001819	synonymous_variant	0			AK024707	CCDS367.2, CCDS53294.1	1p35.1	2013-01-16	2008-09-19	2008-09-19	ENSG00000162520	ENSG00000162520		"Intermediate filaments type III"	28897	protein-coding gene	gene with protein product		611750	"syncoilin, intermediate filament 1"	SYNC1		11053421	Standard	NM_030786		Approved	SYNCOILIN	uc001bvt.2	Q9H7C4	OTTHUMG00000008087	ENST00000409190.3:c.405C>T	1.37:g.33161294G>A			B4DNK8|B4DY58|C9IY41	Silent	SNP	pfam_IF	p.H135	ENST00000409190.3	37	c.405	CCDS367.2	1																																																																																			SYNC	-	NULL	ENSG00000162520		0.577	SYNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNC	HGNC	protein_coding	OTTHUMT00000022129.3		0	19	0	G	NM_030786		33161294	-1			no_errors	ENST00000409190	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.672	A	A	33161294	G	A	33161294	2	1	59	1	0	0	0	0	0	0	0	1	15490	1136	40	1		1	SYNC	1	33161294	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4358668	33161294	216089327	9	16717											
ADPRHL2	54936	genome.wustl.edu	37	chr1	36557343	36557343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgggcccagtttaacGggaaaggctcctatggcaat	9	8	12	12	2	0	0	0	0	0	0	1	1	1	1	3	4	2	3	3	4	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:36557343G>T	ENST00000373178.4	+	3	463	c.433G>T	c.(433-435)Ggg>Tgg	p.G145W		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	145						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CCAGTTTAACGGGAAAGGCTC	0.582																																																	0													74	76	75					1																	36557343		2203	4300	6503	SO:0001583	missense	0			AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.433G>T	1.37:g.36557343G>T	ENSP00000362273:p.Gly145Trp		Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	p.G145W	ENST00000373178.4	37	c.433	CCDS402.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841302	0.91197	.	.	ENSG00000116863	ENST00000373178;ENST00000540867	T	0.36878	1.23	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77726	-0.2480	10	0.87932	D	0	-16.5774	19.064	0.93103	0.0:0.0:1.0:0.0	.	145	Q9NX46	ARHL2_HUMAN	W	145;65	ENSP00000362273:G145W	ENSP00000362273:G145W	G	+	1	0	ADPRHL2	36329930	1.000000	0.71417	0.969000	0.41365	0.974000	0.67602	9.845000	0.99498	2.477000	0.83638	0.563000	0.77884	GGG	ADPRHL2	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1	ENSG00000116863		0.582	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRHL2	HGNC	protein_coding	OTTHUMT00000020199.1		0	27	0	G	NM_017825		36557343	1			no_errors	ENST00000373178	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	36557343	G	T	36557343	3	4	59	1	0	0	0	0	1	0	0	0	333	1116	39	2	443	2	ADPRHL2	1	36557343	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3396049	36557343	212693278	10	16718											
DNALI1	7802	genome.wustl.edu	37	chr1	38027197	38027197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatcaactgtgcggagaGggggctgctgctgctgcgag	7	7	16	11	2	1	1	1	0	0	1	1	3	1	1	1	3	6	4	1	3	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:38027197G>T	ENST00000296218.7	+	4	513	c.503G>T	c.(502-504)aGg>aTg	p.R168M	DNALI1_ENST00000497858.1_3'UTR|DNALI1_ENST00000541606.1_Missense_Mutation_p.R20M	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	146					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGTGCGGAGAGGGGGCTGCTG	0.602											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89	78	82					1																	38027197		2203	4300	6503	SO:0001583	missense	0			AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"Axonemal dyneins"	14353	protein-coding gene	gene with protein product	"inner dynein arm, homolog of clamydomonas", "dJ423B22.5 (axonemal dynein light chain (hp28))"	602135	"dynein, axonemal, light intermediate polypeptide 1"			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.503G>T	1.37:g.38027197G>T	ENSP00000296218:p.Arg168Met	875	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R168M	ENST00000296218.7	37	c.503	CCDS420.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675926	0.88445	.	.	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.65364	-0.15	5.2	5.2	0.72013	.	0.043972	0.85682	D	0.000000	D	0.83667	0.5304	H	0.96996	3.92	0.80722	D	1	P	0.51791	0.948	P	0.54499	0.754	D	0.89518	0.3776	10	0.87932	D	0	-17.2668	19.1061	0.93296	0.0:0.0:1.0:0.0	.	146	O14645	IDLC_HUMAN	M	168;20	ENSP00000296218:R168M	ENSP00000296218:R168M	R	+	2	0	DNALI1	37799784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.875000	0.87205	2.574000	0.86865	0.655000	0.94253	AGG	DNALI1	-	pfam_Axonemal_dynein_light_chain	ENSG00000163879		0.602	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNALI1	HGNC	protein_coding	OTTHUMT00000012159.1		0	40	0	G	NM_003462		38027197	1			no_errors	ENST00000296218	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	38027197	G	T	38027197	3	4	59	1	0	0	0	0	1	0	0	0	4673	1000	35	3	517	3	DNALI1	1	38027197	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1469854	38027197	211223424	11	16719											
INPP5B	3633	genome.wustl.edu	37	chr1	38406367	38406367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttacctacctggacaGgccctggcaacttcgtggag	7	9	13	12	1	1	0	0	0	1	0	2	2	1	2	3	5	3	1	3	5	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:38406367G>T	ENST00000373026.1	-	5	384	c.384C>A	c.(382-384)gcC>gcA	p.A128A	INPP5B_ENST00000373024.3_Silent_p.A128A|INPP5B_ENST00000373021.1_Silent_p.A128A|INPP5B_ENST00000373023.2_Silent_p.A128A			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	128	PH.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACCTGGACAGGCCCTGGCAA	0.577																																																	0													90	88	88					1																	38406367		1939	4138	6077	SO:0001819	synonymous_variant	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"inositol polyphosphate-5-phosphatase, 75kD"			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.384C>A	1.37:g.38406367G>T			C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A128	ENST00000373026.1	37	c.384		1																																																																																			INPP5B	-	NULL	ENSG00000204084		0.577	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	-	0	38	0	G	NM_005540		38406367	-1	tier1	-	no_errors	ENST00000373023	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.996	T	T	38406367	G	T	38406367	2	4	59	1	0	0	0	0	0	0	0	1	7782	987	35	3		3	INPP5B	1	38406367	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	379170	38406367	210844254	12	16720											
MACF1	23499	genome.wustl.edu	37	chr1	39906684	39906684	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttacatgtagactattaagGaagagacagatggtctgcat	14	12	10	5	0	1	3	0	0	1	3	1	5	1	4	0	2	2	2	0	2	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:39906684G>T	ENST00000372915.3	+	72	18241	c.18154G>T	c.(18154-18156)Gaa>Taa	p.E6052*	MACF1_ENST00000539005.1_Nonsense_Mutation_p.E3964*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.E4596*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.E6153*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.E6190*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.E4094*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.E4094*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.E4094*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6052					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACTATTAAGGAAGAGACAGA	0.383																																																	0													94	95	95					1																	39906684		2203	4300	6503	SO:0001587	stop_gained	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18154G>T	1.37:g.39906684G>T	ENSP00000362006:p.Glu6052*		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E4094*	ENST00000372915.3	37	c.12280		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	50|50	17.182722|17.182722	0.99881|0.99881	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.64402|.	D|.	0.000013|.	.|T	.|0.76976	.|0.4063	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74210	.|-0.3739	.|4	0.56958|.	D|.	0.05|.	.|.	20.2191|20.2191	0.98319|0.98319	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	4094;6052;4094;4094;3964;4596|3097	.|.	ENSP00000289893:E4596X|.	E|G	+|+	1|2	0|0	MACF1|MACF1	39679271|39679271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.062000|8.062000	0.89475|0.89475	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GAA|GGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	52	0	G	NM_033044		39906684	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	nonsense	6.33	74	5	SNP	1.000	T	T	39906684	G	T	39906684	4	4	59	1	0	0	0	0	0	1	0	0	9180	1175	41	3	18705	3	MACF1	1	39906684	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1500317	39906684	209343937	13	16721											
COL9A2	1298	genome.wustl.edu	37	chr1	40779928	40779928	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagctttgccaggctcGcccttgggtcccttgaaaac	6	9	11	15	1	0	1	0	1	0	0	2	1	1	1	4	3	3	2	4	3	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:40779928G>T	ENST00000372748.3	-	4	294	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	66	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGCCAGGCTCGCCCTTGGGTC	0.582																																																	0													106	113	111					1																	40779928		2203	4300	6503	SO:0001819	synonymous_variant	0			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.198C>A	1.37:g.40779928G>T			B2RMP9	Silent	SNP	pfam_Collagen	p.G66	ENST00000372748.3	37	c.198	CCDS450.1	1																																																																																			COL9A2	-	pfam_Collagen	ENSG00000049089		0.582	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3		0	24	0	G	NM_001852		40779928	-1			no_errors	ENST00000372748	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.994	T	T	40779928	G	T	40779928	2	4	59	1	0	0	0	0	0	0	0	1	3715	1074	38	2		2	COL9A2	1	40779928	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	873244	40779928	208470693	14	16722											
CACHD1	57685	genome.wustl.edu	37	chr1	65145405	65145405	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccaccagattcatcgccgGagccatcagcatatgtctcc	9	8	8	16	3	3	1	2	0	1	1	5	2	3	2	5	1	2	1	5	1	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:65145405G>T	ENST00000371073.2	+	24	3372	c.3372G>T	c.(3370-3372)cgG>cgT	p.R1124R	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.R1073R			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1124					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TTCATCGCCGGAGCCATCAGC	0.582																																																	0													73	67	69					1																	65145405		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"von Willebrand factor type A and cache domain containing 1"	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3372G>T	1.37:g.65145405G>T			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.R1124	ENST00000371073.2	37	c.3372		1																																																																																			CACHD1	-	NULL	ENSG00000158966		0.582	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding			0	44	0	G	NM_020925		65145405	1			no_errors	ENST00000371073	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.244	T	T	65145405	G	T	65145405	2	4	59	1	0	0	0	0	0	0	0	1	2544	1161	41	3		3	CACHD1	1	65145405	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	24365477	65145405	184105216	15	16723											
DNAJC6	9829	genome.wustl.edu	37	chr1	65855049	65855049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatagacttaactccaccatGggaacattactgcacaaaag	17	8	6	10	0	0	1	0	0	0	1	1	2	1	2	2	1	4	1	2	1	7	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:65855049G>T	ENST00000395325.3	+	10	1290	c.1133G>T	c.(1132-1134)tGg>tTg	p.W378L	DNAJC6_ENST00000371069.4_Missense_Mutation_p.W435L|DNAJC6_ENST00000263441.7_Missense_Mutation_p.W365L	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	378					cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ACTCCACCATGGGAACATTAC	0.443																																																	0													138	123	128					1																	65855049		2203	4300	6503	SO:0001583	missense	0			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.1133G>T	1.37:g.65855049G>T	ENSP00000378735:p.Trp378Leu		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.W435L	ENST00000395325.3	37	c.1304	CCDS30739.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867754	0.72065	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.94793	-3.51;-3.44;-3.52	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94507	0.7715	10	0.28530	T	0.3	.	19.5125	0.95148	0.0:0.0:1.0:0.0	.	435;378;365	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	L	365;378;435	ENSP00000263441:W365L;ENSP00000378735:W378L;ENSP00000360108:W435L	ENSP00000263441:W365L	W	+	2	0	DNAJC6	65627637	1.000000	0.71417	0.998000	0.56505	0.260000	0.26232	9.249000	0.95470	2.840000	0.97914	0.655000	0.94253	TGG	DNAJC6	-	NULL	ENSG00000116675		0.443	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1		0	42	0	G			65855049	1			no_errors	ENST00000371069	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	65855049	G	T	65855049	3	4	59	1	0	0	0	0	1	0	0	0	4667	1357	47	3	1171	3	DNAJC6	1	65855049	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	709644	65855049	183395572	16	16724											
PTGER3	5733	genome.wustl.edu	37	chr1	71477998	71477998	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttgctacctggcaaaacTttcgaagaaggatctttctt	11	14	7	9	1	2	1	0	0	2	1	3	3	2	2	1	2	3	2	1	2	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:71477998T>G	ENST00000306666.5	-	2	1277	c.1067A>C	c.(1066-1068)aAg>aCg	p.K356T	PTGER3_ENST00000460330.1_Missense_Mutation_p.K356T|PTGER3_ENST00000370931.3_Missense_Mutation_p.K356T|PTGER3_ENST00000356595.4_Missense_Mutation_p.K356T|PTGER3_ENST00000414819.1_Missense_Mutation_p.K356T|PTGER3_ENST00000351052.5_Missense_Mutation_p.K356T|PTGER3_ENST00000354608.5_Missense_Mutation_p.K356T|PTGER3_ENST00000370932.2_Missense_Mutation_p.K356T|PTGER3_ENST00000370924.4_Missense_Mutation_p.K356T	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	356					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CTGGCAAAACTTTCGAAGAAG	0.418																																																	0													100	98	99					1																	71477998		2203	4300	6503	SO:0001583	missense	0			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1067A>C	1.37:g.71477998T>G	ENSP00000302313:p.Lys356Thr		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.K356T	ENST00000306666.5	37	c.1067	CCDS657.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375845	0.82682	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.35421	1.31;2.14;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.65	5.65	0.86999	.	0.115995	0.56097	D	0.000021	T	0.49440	0.1557	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;1.0;0.997;1.0;1.0;0.999	P;D;D;D;P;D;D;D	0.91635	0.886;0.996;0.998;0.999;0.884;0.999;0.999;0.996	T	0.47341	-0.9125	10	0.39692	T	0.17	-23.5059	15.525	0.75898	0.0:0.0:0.0:1.0	.	356;356;356;356;356;356;356;356	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	T	356	ENSP00000359969:K356T;ENSP00000359970:K356T;ENSP00000280208:K356T;ENSP00000418073:K356T;ENSP00000346624:K356T;ENSP00000349003:K356T;ENSP00000401423:K356T;ENSP00000302313:K356T;ENSP00000359962:K356T	ENSP00000302313:K356T	K	-	2	0	PTGER3	71250586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.405000	0.80007	2.156000	0.67533	0.402000	0.26972	AAG	PTGER3	-	NULL	ENSG00000050628		0.418	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	-	0	39	0	T	NM_000957		71477998	-1	tier1	-	no_errors	ENST00000354608	ensembl	human	known	74_37	missense	39.71	41	27	SNP	1.000	G	G	71477998	T	G	71477998	3	3	59	1	0	0	0	0	1	0	0	0	12787	1609	56	4	420	4	PTGER3	1	71477998	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	5622949	71477998	177772623	17	16725											
SYDE2	84144	genome.wustl.edu	37	chr1	85656020	85656020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggcctcaccaaaactCaaggcacttgatataccaag	14	7	8	12	1	2	1	2	1	0	0	3	2	2	1	3	2	2	1	3	2	6	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:85656020C>A	ENST00000341460.5	-	2	1210	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	387					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCAAAACTCAAGGCACTTG	0.448																																																	0													70	70	70					1																	85656020		2087	4217	6304	SO:0001583	missense	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1161G>T	1.37:g.85656020C>A	ENSP00000340594:p.Leu387Phe		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L387F	ENST00000341460.5	37	c.1161	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	C	5.557	0.287693	0.10513	.	.	ENSG00000097096	ENST00000341460	T	0.08102	3.13	6.05	2.97	0.34412	.	0.458962	0.18410	N	0.142067	T	0.06416	0.0165	M	0.65975	2.015	0.09310	N	1	P;D	0.53885	0.8;0.963	P;P	0.53809	0.467;0.735	T	0.24693	-1.0153	10	0.66056	D	0.02	.	2.3033	0.04168	0.1856:0.4568:0.1974:0.1602	.	387;387	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	F	387	ENSP00000340594:L387F	ENSP00000340594:L387F	L	-	3	2	SYDE2	85428608	0.002000	0.14202	0.270000	0.24601	0.047000	0.14425	0.704000	0.25661	0.387000	0.25024	-0.142000	0.14014	TTG	SYDE2	-	NULL	ENSG00000097096		0.448	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	-	0	31	0	C			85656020	-1	tier1	-	no_errors	ENST00000341460	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.016	A	A	85656020	C	A	85656020	3	1	59	1	0	0	0	0	1	0	0	0	15483	825	29	3	2447	3	SYDE2	1	85656020	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	14178022	85656020	163594601	18	16726											
COL24A1	255631	genome.wustl.edu	37	chr1	86430729	86430729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggttcacctgcataccccTtttgacctggttttccctag	5	15	7	14	0	1	1	1	1	0	0	2	1	2	1	5	2	2	3	5	2	2	7			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:86430729T>C	ENST00000370571.2	-	23	2846	c.2480A>G	c.(2479-2481)aAg>aGg	p.K827R	COL24A1_ENST00000436319.1_Missense_Mutation_p.K827R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	827	Collagen-like 5.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCATACCCCTTTTGACCTGG	0.303																																																	0													111	104	106					1																	86430729		1830	4071	5901	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"Collagens"	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2480A>G	1.37:g.86430729T>C	ENSP00000359603:p.Lys827Arg		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K827R	ENST00000370571.2	37	c.2480	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.025198	0.54683	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.92965	-3.14;-3.14	5.55	5.55	0.83447	.	0.000000	0.38605	N	0.001627	D	0.89684	0.6786	N	0.25201	0.72	0.47905	D	0.999548	D	0.69078	0.997	D	0.76575	0.988	D	0.88691	0.3209	10	0.23302	T	0.38	.	13.6548	0.62330	0.0:0.0:0.0:1.0	.	827	Q17RW2	COOA1_HUMAN	R	827	ENSP00000359603:K827R;ENSP00000392531:K827R	ENSP00000359603:K827R	K	-	2	0	COL24A1	86203317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.947000	0.63583	2.118000	0.64928	0.459000	0.35465	AAG	COL24A1	-	pfam_Collagen	ENSG00000171502		0.303	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4		0	22	0	T	NM_152890		86430729	-1			no_errors	ENST00000370571	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C	C	86430729	T	C	86430729	3	2	59	1	0	0	0	0	1	0	0	0	3690	1609	56	4	2816	4	COL24A1	1	86430729	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	774709	86430729	162819892	19	16727											
GBP4	115361	genome.wustl.edu	37	chr1	89659042	89659042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgctgttatagacaaagctGctgcttagaagcacagccag	13	8	10	10	1	0	2	0	0	0	2	0	2	0	2	1	0	5	6	1	0	5	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:89659042G>T	ENST00000355754.6	-	4	514	c.417C>A	c.(415-417)agC>agA	p.S139R		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	139	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGACAAAGCTGCTGCTTAGAA	0.468																																																	0													131	126	127					1																	89659042		2203	4300	6503	SO:0001583	missense	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.417C>A	1.37:g.89659042G>T	ENSP00000359490:p.Ser139Arg		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.S139R	ENST00000355754.6	37	c.417	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361587	0.61403	.	.	ENSG00000162654	ENST00000355754	D	0.83419	-1.72	4.93	3.04	0.35103	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92192	0.7524	H	0.98802	4.335	0.30430	N	0.777301	D	0.89917	1.0	D	0.97110	1.0	D	0.88397	0.3012	10	0.87932	D	0	.	9.3674	0.38232	0.1765:0.0:0.8235:0.0	.	139	Q96PP9	GBP4_HUMAN	R	139	ENSP00000359490:S139R	ENSP00000359490:S139R	S	-	3	2	GBP4	89431630	1.000000	0.71417	0.677000	0.29947	0.685000	0.39939	1.800000	0.38833	0.774000	0.33427	0.655000	0.94253	AGC	GBP4	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000162654		0.468	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	HGNC	protein_coding	OTTHUMT00000029409.1	-	0	40	0	G	NM_052941		89659042	-1	tier1	-	no_errors	ENST00000355754	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.988	T	T	89659042	G	T	89659042	3	4	59	1	0	0	0	0	1	0	0	0	6301	1310	46	3	1537	3	GBP4	1	89659042	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3228313	89659042	159591579	20	16728											
LRRC8C	84230	genome.wustl.edu	37	chr1	90178646	90178646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactctccttggaccacaCgggctttatctgaagtgtct	7	14	9	11	1	3	2	0	2	3	0	4	3	3	3	2	2	0	1	2	2	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:90178646C>T	ENST00000370454.4	+	3	772	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	173					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTGGACCACACGGGCTTTATC	0.463																																																	0													73	75	74					1																	90178646		2203	4300	6503	SO:0001583	missense	0				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.517C>T	1.37:g.90178646C>T	ENSP00000359483:p.Arg173Trp		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R173W	ENST00000370454.4	37	c.517	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504915	0.64410	.	.	ENSG00000171488	ENST00000370454	T	0.27890	1.64	5.94	0.0241	0.14140	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	M	0.72118	2.19	0.38100	D	0.937243	D	0.89917	1.0	D	0.79784	0.993	T	0.42699	-0.9436	10	0.87932	D	0	.	10.6829	0.45826	0.577:0.3531:0.0:0.0699	.	173	Q8TDW0	LRC8C_HUMAN	W	173	ENSP00000359483:R173W	ENSP00000359483:R173W	R	+	1	2	LRRC8C	89951234	0.965000	0.33210	0.646000	0.29493	0.993000	0.82548	2.337000	0.43947	0.078000	0.16900	0.650000	0.86243	CGG	LRRC8C	-	NULL	ENSG00000171488		0.463	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	-	0	27	0	C	NM_032270		90178646	1	tier1	-	no_errors	ENST00000370454	ensembl	human	known	74_37	missense	31.48	37	17	SNP	0.183	T	T	90178646	C	T	90178646	3	4	59	1	0	0	0	0	1	0	0	0	9058	527	19	1	523	1	LRRC8C	1	90178646	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	519604	90178646	159071975	21	16729											
ARHGAP29	9411	genome.wustl.edu	37	chr1	94650552	94650552	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataagtgtatttttcctggaAgtttctgatgaccacaaata	13	15	7	6	0	1	2	0	2	1	0	2	3	2	3	2	1	0	2	2	1	5	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:94650552A>C	ENST00000260526.6	-	18	2167	c.1985T>G	c.(1984-1986)cTt>cGt	p.L662R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	662					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTTCCTGGAAGTTTCTGATG	0.343																																																	0													68	71	70					1																	94650552		2203	4299	6502	SO:0001583	missense	0				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"Rho GTPase activating proteins"	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1985T>G	1.37:g.94650552A>C	ENSP00000260526:p.Leu662Arg		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L662R	ENST00000260526.6	37	c.1985	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.888671	0.72524	.	.	ENSG00000137962	ENST00000260526	T	0.30981	1.51	5.39	5.39	0.77823	Rho GTPase-activating protein domain (1);	0.000000	0.33057	N	0.005329	T	0.51805	0.1696	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.61078	-0.7135	10	0.87932	D	0	-18.0477	15.4205	0.75006	1.0:0.0:0.0:0.0	.	662;662	F8VWZ8;Q52LW3	.;RHG29_HUMAN	R	662	ENSP00000260526:L662R	ENSP00000260526:L662R	L	-	2	0	ARHGAP29	94423140	1.000000	0.71417	0.912000	0.35992	0.778000	0.44026	6.528000	0.73807	2.032000	0.59987	0.455000	0.32223	CTT	ARHGAP29	-	NULL	ENSG00000137962		0.343	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	-	0	23	0	A	NM_004815		94650552	-1	tier1	-	no_errors	ENST00000260526	ensembl	human	known	74_37	missense	50.00	12	13	SNP	0.997	C	C	94650552	A	C	94650552	3	2	59	1	0	0	0	0	1	0	0	0	878	72	3	4	1824	4	ARHGAP29	1	94650552	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	4471906	94650552	154600069	22	16730											
COL11A1	1301	genome.wustl.edu	37	chr1	103471658	103471658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctggcattcctcttcctCcatctgcacctggacgaccc	5	11	6	19	1	2	0	0	0	2	0	6	2	6	1	6	2	1	2	6	2	0	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:103471658C>G	ENST00000370096.3	-	17	2069	c.1757G>C	c.(1756-1758)gGa>gCa	p.G586A	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.G547A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G598A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G470A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	586	Collagen-like 2.|Collagen-like 3.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTCTTCCTCCATCTGCACC	0.363																																																	0													64	62	63					1																	103471658		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1757G>C	1.37:g.103471658C>G	ENSP00000359114:p.Gly586Ala		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G598A	ENST00000370096.3	37	c.1793	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202658	0.79127	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	M	0.90198	3.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.97747	1.0212	10	0.87932	D	0	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	470;547;598;586	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	586;598;547;470	ENSP00000359114:G586A;ENSP00000351163:G598A;ENSP00000302551:G547A;ENSP00000426533:G470A	ENSP00000302551:G547A	G	-	2	0	COL11A1	103244246	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.336000	0.79245	2.656000	0.90262	0.655000	0.94253	GGA	COL11A1	-	pfam_Collagen	ENSG00000060718		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	25	0	C	NM_080630		103471658	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	39.13	12	9	SNP	1.000	G	G	103471658	C	G	103471658	3	3	59	1	0	0	0	0	1	0	0	0	3674	855	30	5	3867	5	COL11A1	1	103471658	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	8821106	103471658	145778963	23	16731											
STXBP3	6814	genome.wustl.edu	37	chr1	109350121	109350121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcacatactctgaagtgcGttgtgcttatgaagtttctc	9	15	9	8	1	3	2	1	2	2	0	4	3	3	2	0	0	3	3	0	0	4	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:109350121G>T	ENST00000370008.3	+	18	1684	c.1634G>T	c.(1633-1635)cGt>cTt	p.R545L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	545					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TCTGAAGTGCGTTGTGCTTAT	0.348																																																	0													124	128	126					1																	109350121		2203	4300	6503	SO:0001583	missense	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1634G>T	1.37:g.109350121G>T	ENSP00000359025:p.Arg545Leu		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R545L	ENST00000370008.3	37	c.1634	CCDS790.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731791	0.89390	.	.	ENSG00000116266	ENST00000370008	T	0.80123	-1.34	5.94	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.88811	0.6538	M	0.91196	3.185	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.89546	0.3796	10	0.42905	T	0.14	-10.8523	12.778	0.57459	0.1357:0.0:0.8643:0.0	.	545	O00186	STXB3_HUMAN	L	545	ENSP00000359025:R545L	ENSP00000359025:R545L	R	+	2	0	STXBP3	109151644	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.964000	0.76061	1.530000	0.49136	0.650000	0.86243	CGT	STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000116266		0.348	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	-	0	31	0	G	NM_007269		109350121	1	tier1	-	no_errors	ENST00000370008	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	109350121	G	T	109350121	3	4	59	1	0	0	0	0	1	0	0	0	15401	1145	40	2	1704	2	STXBP3	1	109350121	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5878463	109350121	139900500	24	16732											
CHIA	27159	genome.wustl.edu	37	chr1	111861192	111861192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattccctacctatggacaCaacttcatcctgagcaaccc	11	9	6	15	0	1	1	1	1	0	0	3	3	3	3	4	2	4	1	4	2	4	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:111861192C>A	ENST00000369740.1	+	9	910	c.807C>A	c.(805-807)caC>caA	p.H269Q	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000343320.6_Missense_Mutation_p.H269Q|CHIA_ENST00000451398.2_Missense_Mutation_p.H108Q|CHIA_ENST00000483391.1_Missense_Mutation_p.H108Q|CHIA_ENST00000430615.1_Missense_Mutation_p.H161Q|CHIA_ENST00000353665.6_Missense_Mutation_p.H108Q	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	269					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CCTATGGACACAACTTCATCC	0.527																																																	0													162	149	154					1																	111861192		2203	4300	6503	SO:0001583	missense	0			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.807C>A	1.37:g.111861192C>A	ENSP00000358755:p.His269Gln		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.H269Q	ENST00000369740.1	37	c.807	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	C	6.988	0.552398	0.13374	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.84	2.9	0.33743	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.252134	0.29737	U	0.011324	T	0.16896	0.0406	L	0.31578	0.945	0.20403	N	0.999904	B	0.27765	0.188	B	0.37650	0.255	T	0.19095	-1.0316	10	0.56958	D	0.05	-17.2046	7.5741	0.27926	0.1694:0.7407:0.0:0.0899	.	269	Q9BZP6	CHIA_HUMAN	Q	213;108;269;269;108;108;108;161	ENSP00000387671:H213Q;ENSP00000436946:H108Q;ENSP00000358755:H269Q;ENSP00000341828:H269Q;ENSP00000390476:H108Q;ENSP00000338970:H108Q;ENSP00000433309:H108Q;ENSP00000391132:H161Q	ENSP00000341828:H269Q	H	+	3	2	CHIA	111662715	0.000000	0.05858	0.141000	0.22245	0.117000	0.20001	-1.273000	0.02823	0.523000	0.28482	0.563000	0.77884	CAC	CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000134216		0.527	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1	-	0	38	0	C			111861192	1	tier1	-	no_errors	ENST00000343320	ensembl	human	known	74_37	missense	46.51	23	20	SNP	0.172	A	A	111861192	C	A	111861192	3	1	59	1	0	0	0	0	1	0	0	0	3349	477	17	3	837	3	CHIA	1	111861192	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2511071	111861192	137389429	25	16733											
ITGA10	8515	genome.wustl.edu	37	chr1	145539689	145539689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcttctgttagaatgggAgcaatactcagtgtcaggtg	9	13	12	7	0	4	1	2	0	2	1	5	2	4	2	0	2	2	2	0	2	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:145539689A>G	ENST00000369304.3	+	27	3296	c.3121A>G	c.(3121-3123)Agc>Ggc	p.S1041G	RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000538811.1_Missense_Mutation_p.S910G|ITGA10_ENST00000539363.1_Missense_Mutation_p.S898G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1041					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTAGAATGGGAGCAATACTCA	0.502																																																	0													83	82	82					1																	145539689		2203	4300	6503	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.3121A>G	1.37:g.145539689A>G	ENSP00000358310:p.Ser1041Gly		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S1041G	ENST00000369304.3	37	c.3121	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	A	19.57	3.852034	0.71719	.	.	ENSG00000143127	ENST00000369304;ENST00000539363;ENST00000538811	T;T;T	0.46451	0.87;0.87;0.87	5.06	5.06	0.68205	.	0.103686	0.64402	D	0.000005	T	0.39911	0.1096	M	0.62723	1.935	0.48762	D	0.999701	P;B;P	0.49447	0.778;0.389;0.924	B;B;P	0.50109	0.399;0.25;0.631	T	0.43015	-0.9417	10	0.66056	D	0.02	.	12.8233	0.57707	1.0:0.0:0.0:0.0	.	910;898;1041	F5GY13;B2RTV5;O75578	.;.;ITA10_HUMAN	G	1041;898;910	ENSP00000358310:S1041G;ENSP00000439894:S898G;ENSP00000440011:S910G	ENSP00000358310:S1041G	S	+	1	0	ITGA10	144251046	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.475000	0.66787	2.130000	0.65690	0.460000	0.39030	AGC	ITGA10	-	NULL	ENSG00000143127		0.502	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	-	0	25	0	A	NM_003637		145539689	1	tier1	-	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	54.84	14	17	SNP	1.000	G	G	145539689	A	G	145539689	3	3	59	1	0	0	0	0	1	0	0	0	7900	304	11	4	3227	4	ITGA10	1	145539689	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	33678497	145539689	103710932	26	16734											
NBPF15	284565	genome.wustl.edu	37	chr1	148579636	148579636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcaaagatctcataaaatTtatgctgaggaatgagcgac	15	10	10	6	1	1	3	1	2	1	1	2	5	1	4	0	1	3	2	0	1	5	3	rs200012164	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:148579636T>C	ENST00000369187.3	+	6	695	c.206T>C	c.(205-207)tTt>tCt	p.F69S	NBPF15_ENST00000442702.2_Missense_Mutation_p.F69S|NBPF15_ENST00000464336.2_3'UTR	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	69						cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTCATAAAATTTATGCTGAGG	0.527																																																	0													12	18	17					1																	148579636		884	2001	2885	SO:0001583	missense	0			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.206T>C	1.37:g.148579636T>C	ENSP00000358188:p.Phe69Ser		Q3BBV9|Q8IX77	Missense_Mutation	SNP	pfam_NBPF_dom	p.F69S	ENST00000369187.3	37	c.206	CCDS932.1	1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.454233	0.00173	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.02050	4.48;4.48	0.566	0.566	0.17317	.	.	.	.	.	T	0.00144	0.0004	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	8	0.02654	T	1	.	.	.	.	.	69	Q8N660	NBPFF_HUMAN	S	69	ENSP00000416864:F69S;ENSP00000358188:F69S	ENSP00000358188:F69S	F	+	2	0	NBPF15	146846260	0.001000	0.12720	0.007000	0.13788	0.014000	0.08584	0.004000	0.13106	-0.220000	0.09988	-1.160000	0.01791	TTT	NBPF15	-	NULL	ENSG00000243452		0.527	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF15	HGNC	protein_coding	OTTHUMT00000038609.3	-	0	19	0	T	NM_173638		148579636	1	tier1	rs200012164	no_errors	ENST00000369187	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.009	C	C	148579636	T	C	148579636	3	2	59	1	0	0	0	0	1	0	0	0	10234	1841	64	4	212	4	NBPF15	1	148579636	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	3039947	148579636	100670985	27	16735											
SF3B4	10262	genome.wustl.edu	37	chr1	149898421	149898421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgctgagccatggcgctCacccttggagtccttcttga	5	11	12	13	1	2	2	1	2	1	0	3	3	3	3	3	3	2	3	3	3	0	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:149898421C>T	ENST00000271628.8	-	3	1137	c.553G>A	c.(553-555)Gag>Aag	p.E185K	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	185					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCATGGCGCTCACCCTTGGAG	0.547																																																	0													85	82	83					1																	149898421		2203	4300	6503	SO:0001583	missense	0			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"RNA binding motif (RRM) containing"	10771	protein-coding gene	gene with protein product		605593	"splicing factor 3b, subunit 4, 49kD"			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.553G>A	1.37:g.149898421C>T	ENSP00000271628:p.Glu185Lys		Q5SZ63	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E185K	ENST00000271628.8	37	c.553	CCDS941.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.329436	0.95733	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.26660	1.72;2.69	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.79123	2.44	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.63703	0.917;0.917	T	0.40346	-0.9568	10	0.54805	T	0.06	.	16.9828	0.86333	0.0:1.0:0.0:0.0	.	185;185	Q53FG6;Q15427	.;SF3B4_HUMAN	K	185;142	ENSP00000271628:E185K;ENSP00000391114:E142K	ENSP00000271628:E185K	E	-	1	0	SF3B4	148165045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.367000	0.79558	2.552000	0.86080	0.643000	0.83706	GAG	SF3B4	-	NULL	ENSG00000143368		0.547	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1	-	0	38	0	C	NM_005850		149898421	-1	tier1	-	no_errors	ENST00000271628	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T	T	149898421	C	T	149898421	3	4	59	1	0	0	0	0	1	0	0	0	14198	835	29	3	737	3	SF3B4	1	149898421	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	1318785	149898421	99352200	28	16736											
TARS2	80222	genome.wustl.edu	37	chr1	150470031	150470031	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtatgcccatcgtggtttctCcgaggtgaaaactcccacac	9	10	9	13	2	1	1	0	1	1	0	4	2	2	1	3	2	2	2	3	2	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:150470031C>G	ENST00000369064.3	+	10	1080	c.1046C>G	c.(1045-1047)tCc>tGc	p.S349C	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.S267C|TARS2_ENST00000369054.2_Missense_Mutation_p.S219C|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	349					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CGTGGTTTCTCCGAGGTGAAA	0.537																																																	0													81	71	75					1																	150470031		2203	4300	6503	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	30740	protein-coding gene	gene with protein product	"threonine tRNA ligase 2, mitochondrial"	612805	"threonyl-tRNA synthetase-like 1"	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1046C>G	1.37:g.150470031C>G	ENSP00000358060:p.Ser349Cys		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.S349C	ENST00000369064.3	37	c.1046	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613960	0.46631	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	T;T;T	0.68479	-0.33;-0.33;-0.33	5.65	4.74	0.60224	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.243309	0.35291	N	0.003318	T	0.71151	0.3306	M	0.69463	2.115	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.65443	0.935;0.855;0.855	T	0.75777	-0.3198	10	0.66056	D	0.02	-20.2645	11.2241	0.48873	0.0:0.8022:0.1277:0.0701	.	219;74;349	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	C	219;349;74;74	ENSP00000358050:S219C;ENSP00000358060:S349C;ENSP00000358047:S74C	ENSP00000358047:S74C	S	+	2	0	TARS2	148736655	0.110000	0.22057	0.998000	0.56505	0.305000	0.27757	0.492000	0.22435	1.633000	0.50488	-0.137000	0.14449	TCC	TARS2	-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000143374		0.537	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	-	0	26	0	C	NM_025150		150470031	1	tier1	-	no_errors	ENST00000369064	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.988	G	G	150470031	C	G	150470031	3	3	59	1	0	0	0	0	1	0	0	0	15607	855	30	5	1084	5	TARS2	1	150470031	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	571610	150470031	98780590	29	16737											
PGLYRP3	114771	genome.wustl.edu	37	chr1	153275083	153275083	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgatgatgttggggcaaActgtggtaaaatgaaaagcc	13	11	13	4	0	0	3	0	3	0	0	0	3	0	3	1	3	2	4	1	3	5	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:153275083A>G	ENST00000290722.1	-	5	582	c.530T>C	c.(529-531)gTt>gCt	p.V177A		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	177					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTTGGGGCAAACTGTGGTAAA	0.473																																																	0													154	155	155					1																	153275083		2203	4300	6503	SO:0001630	splice_region_variant	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.530-1T>C	1.37:g.153275083A>G			A1A4U8|Q5SY65	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.V177A	ENST00000290722.1	37	c.530	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	A	0.035	-1.310504	0.01342	.	.	ENSG00000159527	ENST00000290722	T	0.26373	1.74	4.18	-2.28	0.06826	N-acetylmuramoyl-L-alanine amidase domain (2);	0.490950	0.18383	N	0.142902	T	0.01029	0.0034	N	0.00707	-1.245	0.21579	N	0.999632	B	0.02656	0.0	B	0.06405	0.002	T	0.38950	-0.9637	10	0.02654	T	1	.	3.278	0.06906	0.2475:0.0:0.238:0.5144	.	177	Q96LB9	PGRP3_HUMAN	A	177	ENSP00000290722:V177A	ENSP00000290722:V177A	V	-	2	0	PGLYRP3	151541707	0.083000	0.21467	0.950000	0.38849	0.507000	0.33981	-1.232000	0.02936	-0.167000	0.10871	0.528000	0.53228	GTT	PGLYRP3	-	pfam_Amidase_domain	ENSG00000159527		0.473	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1	-	0	82	0	A	NM_052891	Missense_Mutation	153275083	-1	tier1	-	no_errors	ENST00000290722	ensembl	human	known	74_37	missense	48.74	61	58	SNP	0.894	G	G	153275083	A	G	153275083	5	3	59	1	0	0	0	0	0	0	1	0	11834	57	2	4	507	4	PGLYRP3	1	153275083	Splice_Site	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	2805052	153275083	95975538	30	16738											
S100A7L2	645922	genome.wustl.edu	37	chr1	153410796	153410796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgactttctcacctagagGgatattcatctttgctttca	9	16	6	10	0	4	2	3	1	2	1	5	3	4	3	1	1	1	1	1	1	2	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:153410796G>T	ENST00000368725.2	-	2	42	c.43C>A	c.(43-45)Cct>Act	p.P15T		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	4	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCACCTAGAGGGATATTCATC	0.398																																																	0													151	128	136					1																	153410796		2203	4300	6503	SO:0001583	missense	0					1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"EF-hand domain containing"	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.43C>A	1.37:g.153410796G>T	ENSP00000357714:p.Pro15Thr			Missense_Mutation	SNP	pfscan_EF_hand_dom	p.P15T	ENST00000368725.2	37	c.43		1	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.245968	0.01481	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.16597	2.63;2.63;2.33	1.81	-0.998	0.10212	.	.	.	.	.	T	0.00724	0.0024	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44711	-0.9310	9	0.02654	T	1	.	2.4467	0.04508	0.2663:0.0:0.29:0.4437	.	4	Q5SY68	S1A7B_HUMAN	T	4;4;15	ENSP00000357714:P4T;ENSP00000357713:P4T;ENSP00000405610:P15T	ENSP00000357713:P4T	P	-	1	0	S100A7L2	151677420	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	-0.261000	0.09405	-0.602000	0.04101	CCT	S100A7L2	-	NULL	ENSG00000197364		0.398	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	S100A7L2	HGNC	protein_coding	OTTHUMT00000036797.2		0	13	0	G	NM_001045479		153410796	-1			no_errors	ENST00000368725	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.000	T	T	153410796	G	T	153410796	3	4	59	1	0	0	0	0	1	0	0	0	13830	1232	43	3	303	3	S100A7L2	1	153410796	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	135713	153410796	95839825	31	16739											
NPR1	4881	genome.wustl.edu	37	chr1	153659784	153659784	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatcaccgactatgggctgGagagcttcagggacctggac	10	7	14	10	1	2	2	2	0	0	2	2	6	2	4	2	4	1	2	2	4	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:153659784G>T	ENST00000368680.3	+	13	2516	c.2044G>T	c.(2044-2046)Gag>Tag	p.E682*		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTATGGGCTGGAGAGCTTCAG	0.552																																					Pancreas(141;1349 1870 15144 15830 40702)												0													122	98	106					1																	153659784		2203	4300	6503	SO:0001587	stop_gained	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2044G>T	1.37:g.153659784G>T	ENSP00000357669:p.Glu682*		B0ZBF0|Q5SR08|Q6P4Q3	Nonsense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.E682*	ENST00000368680.3	37	c.2044	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.178245	0.99091	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	.	.	.	4.09	4.09	0.47781	.	0.529159	0.17124	N	0.186112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	14.1901	0.65633	0.0:0.0:1.0:0.0	.	.	.	.	X	682;161	.	ENSP00000357669:E682X	E	+	1	0	NPR1	151926408	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.934000	0.48956	2.287000	0.76781	0.455000	0.32223	GAG	NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000169418		0.552	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1		0	29	0	G	NM_000906		153659784	1			no_errors	ENST00000368680	ensembl	human	known	74_37	nonsense	7.89	35	3	SNP	1.000	T	T	153659784	G	T	153659784	4	4	59	1	0	0	0	0	0	1	0	0	10633	1175	41	3	2094	3	NPR1	1	153659784	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	248988	153659784	95590837	32	16740											
NUP210L	91181	genome.wustl.edu	37	chr1	154091161	154091161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatacctgtactttataacGatataacattcccataggat	14	13	4	10	1	0	0	0	0	0	0	1	2	1	1	3	1	4	1	3	1	7	9			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:154091161G>A	ENST00000368559.3	-	11	1521	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R484C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	484					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.R484C(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACTTTATAACGATATAACATT	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											147	150	149					1																	154091161		1835	4085	5920	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1450C>T	1.37:g.154091161G>A	ENSP00000357547:p.Arg484Cys		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.R484C	ENST00000368559.3	37	c.1450	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325049	0.60634	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06068	3.35;3.35	5.0	5.0	0.66597	Invasin/intimin cell-adhesion (1);	0.463681	0.20461	N	0.091896	T	0.03871	0.0109	L	0.44542	1.39	0.45150	D	0.998168	D;D	0.61697	0.99;0.99	B;B	0.39660	0.306;0.306	T	0.42599	-0.9442	10	0.72032	D	0.01	-3.2393	16.0759	0.80967	0.0:0.0:1.0:0.0	.	484;484	E7EP56;Q5VU65	.;P210L_HUMAN	C	484	ENSP00000357547:R484C;ENSP00000271854:R484C	ENSP00000271854:R484C	R	-	1	0	NUP210L	152357785	1.000000	0.71417	0.956000	0.39512	0.534000	0.34807	4.858000	0.62947	2.337000	0.79520	0.460000	0.39030	CGT	NUP210L	-	superfamily_Invasin/intimin_cell_adhesion	ENSG00000143552		0.328	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3		0	36	0	G	NM_207308		154091161	-1			no_errors	ENST00000368559	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.999	A	A	154091161	G	A	154091161	3	1	59	1	0	0	0	0	1	0	0	0	10800	1058	37	1	4336	1	NUP210L	1	154091161	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	431377	154091161	95159460	33	16741											
TDRD10	126668	genome.wustl.edu	37	chr1	154492834	154492834	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgatgtccacaaaatcCagaatggctgcaaatggtaa	14	10	8	9	0	1	2	0	1	1	1	3	2	3	2	2	2	1	3	2	2	5	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:154492834C>T	ENST00000368480.3	+	5	281	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TDRD10_ENST00000368482.4_Nonsense_Mutation_p.Q66*			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	66	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAAAATCCAGAATGGCTG	0.428																																																	0													145	142	143					1																	154492834		1948	4155	6103	SO:0001587	stop_gained	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.196C>T	1.37:g.154492834C>T	ENSP00000357465:p.Gln66*		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Nonsense_Mutation	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q66*	ENST00000368480.3	37	c.196	CCDS41406.1	1	.	.	.	.	.	.	.	.	.	.	c	42	9.634428	0.99224	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	.	.	.	4.0	0.992	0.19819	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	6.361	0.21429	0.0:0.6671:0.0:0.3329	.	.	.	.	X	66	.	ENSP00000357465:Q66X	Q	+	1	0	TDRD10	152759458	0.086000	0.21541	0.001000	0.08648	0.694000	0.40290	0.212000	0.17497	0.098000	0.17522	0.558000	0.71614	CAG	TDRD10	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000163239		0.428	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	-	0	56	0	C	NM_182499		154492834	1	tier1	-	no_errors	ENST00000368480	ensembl	human	known	74_37	nonsense	24.17	91	29	SNP	0.004	T	T	154492834	C	T	154492834	4	4	59	1	0	0	0	0	0	1	0	0	15778	595	21	3	210	3	TDRD10	1	154492834	Nonsense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	401673	154492834	94757787	34	16742											
DCST2	127579	genome.wustl.edu	37	chr1	155002614	155002614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggtagcactgtgggcaGccctgccgtggagcgcacag	7	5	17	12	3	0	0	0	0	0	0	0	2	0	1	2	3	5	4	2	3	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:155002614G>T	ENST00000368424.3	-	7	1181	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	DCST2_ENST00000295536.5_Missense_Mutation_p.L375M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	375						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTGTGGGCAGCCCTGCCGTG	0.602																																																	0													86	85	86					1																	155002614		2203	4300	6503	SO:0001583	missense	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1123C>A	1.37:g.155002614G>T	ENSP00000357409:p.Leu375Met		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.L375M	ENST00000368424.3	37	c.1123	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	G	7.656	0.683942	0.14907	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.30182	1.54;1.54	4.68	1.73	0.24493	Dendritic cell-specific transmembrane protein-like (1);	0.614183	0.15050	N	0.283396	T	0.11196	0.0273	M	0.68317	2.08	0.09310	N	0.999997	P	0.40144	0.704	B	0.35182	0.197	T	0.13548	-1.0505	10	0.46703	T	0.11	-18.5333	4.143	0.10203	0.1764:0.0:0.5078:0.3158	.	375	Q5T1A1	DCST2_HUMAN	M	375	ENSP00000357409:L375M;ENSP00000295536:L375M	ENSP00000295536:L375M	L	-	1	2	DCST2	153269238	0.982000	0.34865	0.558000	0.28319	0.479000	0.33129	1.422000	0.34826	0.195000	0.20347	0.655000	0.94253	CTG	DCST2	-	pfam_DC_STAMP-like	ENSG00000163354		0.602	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	-	0	42	0	G	NM_144622		155002614	-1	tier1	-	no_errors	ENST00000368424	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.280	T	T	155002614	G	T	155002614	3	4	59	1	0	0	0	0	1	0	0	0	4312	962	34	3	1234	3	DCST2	1	155002614	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	509780	155002614	94248007	35	16743											
CD1E	913	genome.wustl.edu	37	chr1	158325803	158325803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagacatggtatctccgagCaaccctggatgtggcggctg	8	8	14	11	3	1	1	0	0	1	1	2	4	1	2	2	4	2	3	2	4	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:158325803C>A	ENST00000368167.3	+	4	1051	c.812C>A	c.(811-813)gCa>gAa	p.A271E	CD1E_ENST00000368156.1_Missense_Mutation_p.A181E|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.A269E|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.A172E|CD1E_ENST00000368165.3_Missense_Mutation_p.A181E|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.A271E|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.A82E|CD1E_ENST00000368166.3_Missense_Mutation_p.A82E	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	271	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TATCTCCGAGCAACCCTGGAT	0.607																																																	0													99	99	99					1																	158325803		2203	4300	6503	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.812C>A	1.37:g.158325803C>A	ENSP00000357149:p.Ala271Glu		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A271E	ENST00000368167.3	37	c.812	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341388	0.41498	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	T;T;T;T;T;T;T;T	0.02812	4.15;4.15;4.15;4.15;4.15;4.15;4.15;4.15	4.28	0.596	0.17496	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.588914	0.14197	N	0.334970	T	0.04497	0.0123	M	0.72576	2.205	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.998;0.998;1.0;0.99;0.996;0.998;0.989;0.999	D;D;D;D;D;D;P;D;D;D;D	0.81914	0.994;0.993;0.993;0.981;0.986;0.995;0.858;0.976;0.986;0.951;0.975	T	0.25187	-1.0139	10	0.87932	D	0	-5.0189	6.0469	0.19766	0.0:0.4103:0.0:0.5897	.	82;172;269;271;172;181;82;271;271;82;181	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	E	269;172;271;82;181;82;271;181	ENSP00000401957:A269E;ENSP00000402906:A172E;ENSP00000357149:A271E;ENSP00000416228:A82E;ENSP00000357147:A181E;ENSP00000357148:A82E;ENSP00000357142:A271E;ENSP00000357138:A181E	ENSP00000357138:A181E	A	+	2	0	CD1E	156592427	0.012000	0.17670	0.002000	0.10522	0.572000	0.35998	0.231000	0.17872	-0.060000	0.13132	0.563000	0.77884	GCA	CD1E	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000158488		0.607	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	50	0	C	NM_030893		158325803	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	missense	44.07	33	26	SNP	0.002	A	A	158325803	C	A	158325803	3	1	59	1	0	0	0	0	1	0	0	0	2985	710	25	3	826	3	CD1E	1	158325803	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	3323189	158325803	90924818	36	16744											
OR6N1	128372	genome.wustl.edu	37	chr1	158735897	158735897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactaggacatttatagaCgtatcagtgcaagccaaact	14	11	7	9	1	2	1	1	0	1	1	2	2	2	2	1	1	4	2	1	1	7	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:158735897C>T	ENST00000335094.2	-	1	595	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T192T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CATTTATAGACGTATCAGTGC	0.463																																																	1	Substitution - coding silent(1)	large_intestine(1)											106	111	109					1																	158735897		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"GPCR / Class A : Olfactory receptors"	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.576G>A	1.37:g.158735897C>T			Q5VUU8|Q96R35	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T192	ENST00000335094.2	37	c.576	CCDS30905.1	1																																																																																			OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000197403		0.463	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	-	0	19	0	C	NM_001005185		158735897	-1	tier1	-	no_errors	ENST00000335094	ensembl	human	known	74_37	silent	50.00	13	13	SNP	0.018	T	T	158735897	C	T	158735897	2	4	59	1	0	0	0	0	0	0	0	1	11245	523	19	1		1	OR6N1	1	158735897	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	410094	158735897	90514724	37	16745											
KCNJ9	3765	genome.wustl.edu	37	chr1	160054260	160054260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcaggccatcctgggctCcatggtgaacgccttcatgg	6	9	13	13	1	1	1	1	1	0	0	3	1	3	1	4	4	2	3	4	4	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:160054260C>T	ENST00000368088.3	+	2	682	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	147					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCCTGGGCTCCATGGTGAAC	0.647																																																	0													46	42	43					1																	160054260		2203	4300	6503	SO:0001583	missense	0			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.440C>T	1.37:g.160054260C>T	ENSP00000357067:p.Ser147Phe		Q5JW75	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3	p.S147F	ENST00000368088.3	37	c.440	CCDS1194.1	1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648001	0.67358	.	.	ENSG00000162728	ENST00000368088	D	0.95788	-3.81	4.6	3.61	0.41365	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.144439	0.47455	D	0.000222	D	0.96809	0.8958	M	0.78456	2.415	0.58432	D	0.99999	D	0.76494	0.999	D	0.73380	0.98	D	0.97039	0.9756	10	0.72032	D	0.01	.	12.9955	0.58644	0.0:0.8362:0.1638:0.0	.	147	Q92806	IRK9_HUMAN	F	147	ENSP00000357067:S147F	ENSP00000357067:S147F	S	+	2	0	KCNJ9	158320884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	2.103000	0.63969	0.555000	0.69702	TCC	KCNJ9	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000162728		0.647	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ9	HGNC	protein_coding	OTTHUMT00000060628.1	-	0	46	0	C	NM_004983		160054260	1	tier1	-	no_errors	ENST00000368088	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	160054260	C	T	160054260	3	4	59	1	0	0	0	0	1	0	0	0	8084	855	30	3	442	3	KCNJ9	1	160054260	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	1318363	160054260	89196361	38	16746											
ATP1A2	477	genome.wustl.edu	37	chr1	160098836	160098836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctggtctctgcaaccGcgccgtcttcaaggcaggac	8	9	11	13	3	3	0	1	0	2	0	4	1	3	1	2	3	3	3	2	3	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:160098836G>A	ENST00000361216.3	+	10	1372	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R428H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	428					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGCAACCGCGCCGTCTTC	0.582																																																	0													44	37	39					1																	160098836		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1283G>A	1.37:g.160098836G>A	ENSP00000354490:p.Arg428His		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.R428H	ENST00000361216.3	37	c.1283	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.092935|4.092935	0.76756|0.76756	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|T;T	.|0.79749	.|-1.3;-1.3	4.13|4.13	4.13|4.13	0.48395|0.48395	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.105463	.|0.64402	.|D	.|0.000007	T|T	0.80581|0.80581	0.4650|0.4650	L|L	0.28556|0.28556	0.865|0.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.78314	.|0.991;0.984;0.991	D|D	0.83637|0.83637	0.0148|0.0148	5|10	.|0.66056	.|D	.|0.02	.|.	15.6667|15.6667	0.77236|0.77236	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|428;328;428	.|B1AKY9;F5GXJ7;P50993	.|.;.;AT1A2_HUMAN	T|H	139|428;428;131	.|ENSP00000354490:R428H;ENSP00000376066:R428H	.|ENSP00000354490:R428H	A|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158365460|158365460	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.959000|0.959000	0.62525|0.62525	7.808000|7.808000	0.86044|0.86044	2.306000|2.306000	0.77630|0.77630	0.561000|0.561000	0.74099|0.74099	GCG|CGC	ATP1A2	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0	31	0	G	NM_000702		160098836	1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	A	A	160098836	G	A	160098836	3	1	59	1	0	0	0	0	1	0	0	0	1130	1087	38	1	1321	1	ATP1A2	1	160098836	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	44576	160098836	89151785	39	16747											
COPA	1314	genome.wustl.edu	37	chr1	160283886	160283886	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacattgttgtaatggccccGgcaggtatcaacctcccatg	9	11	9	12	1	1	0	1	0	0	0	2	0	2	0	4	3	2	4	4	3	4	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:160283886G>T	ENST00000241704.7	-	9	965	c.736C>A	c.(736-738)Cgg>Agg	p.R246R	COPA_ENST00000368069.3_Silent_p.R246R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	246					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAATGGCCCCGGCAGGTATCA	0.438																																																	0													83	77	79					1																	160283886		2203	4300	6503	SO:0001819	synonymous_variant	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.736C>A	1.37:g.160283886G>T			Q5T201|Q8IXZ9	Silent	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R246	ENST00000241704.7	37	c.736	CCDS1202.1	1																																																																																			COPA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000122218		0.438	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1		0	8	0	G	NM_004371		160283886	-1			no_errors	ENST00000368069	ensembl	human	known	74_37	silent	11.54	23	3	SNP	1.000	T	T	160283886	G	T	160283886	2	4	59	1	0	0	0	0	0	0	0	1	3734	1115	39	2		2	COPA	1	160283886	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	185050	160283886	88966735	40	16748											
ILDR2	387597	genome.wustl.edu	37	chr1	166892005	166892005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agactggcggaaattgctgtCctcctcatgtagggagctga	9	10	13	9	1	1	2	1	1	0	1	3	4	3	4	2	3	2	3	2	3	2	2	rs141206348		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:166892005C>A	ENST00000271417.3	-	8	1091	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	ILDR2_ENST00000529071.1_Missense_Mutation_p.D327Y|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.D346Y|ILDR2_ENST00000528703.1_Missense_Mutation_p.D287Y|ILDR2_ENST00000526687.1_Missense_Mutation_p.D238Y|ILDR2_ENST00000525740.1_Missense_Mutation_p.D219Y	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	346					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AAATTGCTGTCCTCCTCATGT	0.473																																																	0													147	137	141					1																	166892005		2203	4300	6503	SO:0001583	missense	0			AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"LISCH-like"		"chromosome 1 open reading frame 32"	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1036G>T	1.37:g.166892005C>A	ENSP00000271417:p.Asp346Tyr			Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.D346Y	ENST00000271417.3	37	c.1036	CCDS1256.1	1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613709	0.46631	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T	0.80480	0.4;-1.38;0.36;0.39;-1.3;-0.28	5.24	4.12	0.48240	.	0.369256	0.30464	N	0.009578	T	0.81370	0.4808	M	0.61703	1.905	0.26208	N	0.979342	D	0.64830	0.994	P	0.60173	0.87	T	0.74266	-0.3721	10	0.87932	D	0	.	12.9686	0.58499	0.0:0.9106:0.0:0.0894	.	346	Q71H61	ILDR2_HUMAN	Y	346;219;346;327;238;287	ENSP00000271417:D346Y;ENSP00000436120:D219Y;ENSP00000437008:D346Y;ENSP00000436882:D327Y;ENSP00000434273:D238Y;ENSP00000432750:D287Y	ENSP00000271417:D346Y	D	-	1	0	ILDR2	165158629	0.993000	0.37304	0.905000	0.35620	0.980000	0.70556	3.896000	0.56266	2.427000	0.82271	0.561000	0.74099	GAC	ILDR2	-	NULL	ENSG00000143195		0.473	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILDR2	HGNC	protein_coding	OTTHUMT00000082880.2	-	0	32	0	C	NM_199351		166892005	-1	tier1	-	no_errors	ENST00000271417	ensembl	human	known	74_37	missense	51.85	26	28	SNP	0.364	A	A	166892005	C	A	166892005	3	1	59	1	0	0	0	0	1	0	0	0	7737	855	30	3	895	3	ILDR2	1	166892005	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	6608119	166892005	82358616	41	16749											
SELP	6403	genome.wustl.edu	37	chr1	169578896	169578896	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcaatccatgcttccgtgGacaggactctccagcggctc	8	8	11	14	2	1	0	0	0	1	0	5	3	3	2	3	3	3	3	3	3	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:169578896G>T	ENST00000263686.6	-	8	1216	c.1179C>A	c.(1177-1179)gtC>gtA	p.V393V	SELP_ENST00000367791.2_Intron|SELP_ENST00000367792.2_Silent_p.V331V|SELP_ENST00000458599.2_Silent_p.V331V|SELP_ENST00000367794.2_Silent_p.V331V|SELP_ENST00000367788.2_Silent_p.V331V|SELP_ENST00000367793.2_Silent_p.V331V|SELP_ENST00000367786.2_Silent_p.V331V	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	393	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TGCTTCCGTGGACAGGACTCT	0.493																																																	0													85	73	77					1																	169578896		2203	4300	6503	SO:0001819	synonymous_variant	0			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"CD molecules"	10721	protein-coding gene	gene with protein product		173610	"selectin P (granule membrane protein 140kD, antigen CD62)"	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1179C>A	1.37:g.169578896G>T			Q5R344|Q8IVD1	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.V393	ENST00000263686.6	37	c.1179	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858064	0.32791	.	.	ENSG00000174175	ENST00000446728	.	.	.	5.74	-2.5	0.06384	.	.	.	.	.	T	0.06005	0.0156	.	.	.	0.23101	N	0.998292	.	.	.	.	.	.	T	0.35847	-0.9772	4	.	.	.	-7.0E-4	0.6905	0.00890	0.2929:0.1191:0.3437:0.2443	.	.	.	.	T	331	.	.	P	-	1	0	SELP	167845520	0.000000	0.05858	0.000000	0.03702	0.857000	0.48899	-0.266000	0.08631	-0.822000	0.04306	0.650000	0.86243	CCA	SELP	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000174175		0.493	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	HGNC	protein_coding	OTTHUMT00000083916.4		0	28	0	G	NM_003005		169578896	-1			no_errors	ENST00000263686	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.007	T	T	169578896	G	T	169578896	2	4	59	1	0	0	0	0	0	0	0	1	14064	1161	41	3		3	SELP	1	169578896	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2686891	169578896	79671725	42	16750											
ASTN1	460	genome.wustl.edu	37	chr1	176845742	176845742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcttggcctggagcgccGtcctgtgttgtccactcccc	2	11	12	16	3	0	0	0	0	0	0	4	1	3	1	6	2	1	2	6	2	0	2	rs373152514		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:176845742G>A	ENST00000367654.3	-	21	3629	c.3418C>T	c.(3418-3420)Cgg>Tgg	p.R1140W	ASTN1_ENST00000361833.2_Missense_Mutation_p.R1132W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R1132W|ASTN1_ENST00000424564.2_Missense_Mutation_p.R1132W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1140	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R1132W(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGGAGCGCCGTCCTGTGTTG	0.577													G|||	1	0.000199681	0	0	5008	,	,		18580	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	prostate(1)						G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	114	88	97		3394,3394	4.2	1	1		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASTN1	NM_004319.1,NM_207108.1	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	1132/1295,1132/1217	176845742	2,13004	2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3418C>T	1.37:g.176845742G>A	ENSP00000356626:p.Arg1140Trp		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.R1140W	ENST00000367654.3	37	c.3418		1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441505	0.83993	2.27E-4	1.16E-4	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17213	2.29;2.71;2.71;2.29	5.19	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.04017	-1.0984	10	0.87932	D	0	-17.3769	11.0346	0.47793	0.0:0.0:0.6384:0.3616	.	1132;1132	O14525-2;B1AJS1	.;.	W	1132;1132;1140;1132;1132	ENSP00000356629:R1132W;ENSP00000354536:R1132W;ENSP00000356626:R1140W;ENSP00000395041:R1132W	ENSP00000354536:R1132W	R	-	1	2	ASTN1	175112365	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	5.493000	0.66899	2.400000	0.81607	0.655000	0.94253	CGG	ASTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000152092		0.577	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	25	0	G	NM_004319		176845742	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	58.33	15	21	SNP	0.995	A	A	176845742	G	A	176845742	3	1	59	1	0	0	0	0	1	0	0	0	1065	1144	40	1	506	1	ASTN1	1	176845742	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7266846	176845742	72404879	43	16751											
FAM163A	148753	genome.wustl.edu	37	chr1	179783228	179783228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagaggggggacccccatcCctcaaattggcagcacccca	12	4	10	15	0	1	1	1	0	0	1	2	2	2	2	5	4	1	2	5	4	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:179783228C>T	ENST00000341785.4	+	5	804	c.408C>T	c.(406-408)tcC>tcT	p.S136S	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	136						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						GACCCCCATCCCTCAAATTGG	0.582																																																	0													64	70	68					1																	179783228		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"chromosome 1 open reading frame 76"	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.408C>T	1.37:g.179783228C>T			A8K8R7	Silent	SNP	NULL	p.S136	ENST00000341785.4	37	c.408	CCDS1333.1	1																																																																																			FAM163A	-	NULL	ENSG00000143340		0.582	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM163A	HGNC	protein_coding	OTTHUMT00000085300.1	-	0	25	0	C	NM_173509		179783228	1	tier1	-	no_errors	ENST00000341785	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.280	T	T	179783228	C	T	179783228	2	4	59	1	0	0	0	0	0	0	0	1	5495	610	22	3		3	FAM163A	1	179783228	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2937486	179783228	69467393	44	16752											
LAMC1	3915	genome.wustl.edu	37	chr1	183095293	183095293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccaccaatgggcagtGtgacatccgcaccggccagt	8	6	13	14	2	0	1	0	1	0	0	2	1	2	1	5	3	0	3	5	3	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:183095293G>T	ENST00000258341.4	+	16	3097	c.2840G>T	c.(2839-2841)tGt>tTt	p.C947F	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	947	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AATGGGCAGTGTGACATCCGC	0.527																																																	0													64	55	58					1																	183095293		2203	4300	6503	SO:0001583	missense	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2840G>T	1.37:g.183095293G>T	ENSP00000258341:p.Cys947Phe		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.C947F	ENST00000258341.4	37	c.2840	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982841	0.93044	.	.	ENSG00000135862	ENST00000258341	D	0.94330	-3.4	5.64	5.64	0.86602	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99501	1.0953	10	0.87932	D	0	.	19.6934	0.96010	0.0:0.0:1.0:0.0	.	947	P11047	LAMC1_HUMAN	F	947	ENSP00000258341:C947F	ENSP00000258341:C947F	C	+	2	0	LAMC1	181361916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.135000	0.94478	2.651000	0.90000	0.655000	0.94253	TGT	LAMC1	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000135862		0.527	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2		0	70	0	G	NM_002293		183095293	1			no_errors	ENST00000258341	ensembl	human	known	74_37	missense	5.05	94	5	SNP	1.000	T	T	183095293	G	T	183095293	3	4	59	1	0	0	0	0	1	0	0	0	8642	1377	48	3	2902	3	LAMC1	1	183095293	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3312065	183095293	66155328	45	16753											
HMCN1	83872	genome.wustl.edu	37	chr1	186056742	186056742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactcatgtggagattttaGctgatggacaaatgctacac	12	12	9	8	0	1	2	1	1	0	1	1	4	1	3	0	2	4	2	0	2	4	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:186056742G>T	ENST00000271588.4	+	60	9557	c.9328G>T	c.(9328-9330)Gct>Tct	p.A3110S	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3110S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3110	Ig-like C2-type 29.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAGATTTTAGCTGATGGACA	0.448																																																	0													119	118	118					1																	186056742		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9328G>T	1.37:g.186056742G>T	ENSP00000271588:p.Ala3110Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A3110S	ENST00000271588.4	37	c.9328	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	5.552	0.286657	0.10513	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.29	-1.71	0.08133	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.924765	0.09285	N	0.823208	T	0.46367	0.1389	N	0.12920	0.275	0.09310	N	1	B	0.28584	0.216	B	0.39706	0.307	T	0.43956	-0.9359	10	0.07990	T	0.79	.	5.0283	0.14396	0.1904:0.0:0.4491:0.3605	.	3110	Q96RW7	HMCN1_HUMAN	S	3110	ENSP00000271588:A3110S;ENSP00000356462:A3110S	ENSP00000271588:A3110S	A	+	1	0	HMCN1	184323365	0.296000	0.24398	0.011000	0.14972	0.932000	0.56968	0.832000	0.27490	-0.254000	0.09500	0.655000	0.94253	GCT	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	46	0	G	NM_031935		186056742	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.130	T	T	186056742	G	T	186056742	3	4	59	1	0	0	0	0	1	0	0	0	7247	971	34	3	9566	3	HMCN1	1	186056742	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2961449	186056742	63193879	46	16754											
HMCN1	83872	genome.wustl.edu	37	chr1	186094842	186094843	+	Frame_Shift_Ins	INS	-	-	A																															ccacaccagcaattaactggINSaaaaaagacaatgttctttt																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:186094842_186094843insA	ENST00000271588.4	+	82	12835_12836	c.12606_12607insA	c.(12607-12609)aaafs	p.K4203fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.K4203fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4203	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAATTAACTGGAAAAAAGACAA	0.396																																																	0																																										SO:0001589	frameshift_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12612dupA	1.37:g.186094848_186094848dupA	ENSP00000271588:p.Lys4203fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.D4204fs	ENST00000271588.4	37	c.12606_12607	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.396	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	31	0	-	NM_031935		186094843	1	tier1		no_errors	ENST00000271588	ensembl	human	known	74_37	frame_shift_ins	59.09	18	26	INS	1.000:1.000	A	A	186094843	-	A	186094842	7	5	59	1	0	1	1	0	0	0	0	0	7247	1183	41	0	12932	0	HMCN1	1	186094842	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	38100	186094842	63155779	47	16755											
CFHR5	81494	genome.wustl.edu	37	chr1	196952103	196952103	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccaagttcctacaggggaAgttttctattactcctgtga	9	14	8	10	0	1	1	0	1	1	0	4	2	4	2	3	2	2	2	3	2	5	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:196952103A>C	ENST00000256785.4	+	2	256	c.147A>C	c.(145-147)gaA>gaC	p.E49D	CFHR5_ENST00000367414.5_Missense_Mutation_p.E73D			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	49	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CTACAGGGGAAGTTTTCTATT	0.373																																																	0													110	108	109					1																	196952103		2203	4300	6503	SO:0001583	missense	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.147A>C	1.37:g.196952103A>C	ENSP00000256785:p.Glu49Asp		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E73D	ENST00000256785.4	37	c.219	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	.	15.30	2.793073	0.50102	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65364	-0.15;-0.15	2.22	-0.138	0.13464	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.48607	0.1509	L	0.40543	1.245	0.09310	N	1	B	0.33345	0.409	B	0.41135	0.348	T	0.39761	-0.9598	9	0.08837	T	0.75	.	4.146	0.10215	0.6094:0.0:0.3906:0.0	.	49	Q9BXR6	FHR5_HUMAN	D	73;49	ENSP00000356384:E73D;ENSP00000256785:E49D	ENSP00000256785:E49D	E	+	3	2	CFHR5	195218726	0.000000	0.05858	0.000000	0.03702	0.662000	0.39071	-0.068000	0.11561	-0.042000	0.13535	0.254000	0.18369	GAA	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000134389		0.373	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	-	0	47	0	A	NM_030787		196952103	1	tier1	-	no_errors	ENST00000367414	ensembl	human	known	74_37	missense	70.83	7	17	SNP	0.000	C	C	196952103	A	C	196952103	3	2	59	1	0	0	0	0	1	0	0	0	3295	69	3	4	153	4	CFHR5	1	196952103	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	10857261	196952103	52298518	48	16756											
CRB1	23418	genome.wustl.edu	37	chr1	197297562	197297562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccttgtagattccttttgCaataaaaacaacaccaggtg	13	13	6	9	0	0	1	0	0	0	1	2	1	2	1	3	1	3	2	3	1	6	7			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:197297562C>T	ENST00000367400.3	+	2	216	c.81C>T	c.(79-81)tgC>tgT	p.C27C	CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.C27C|CRB1_ENST00000367399.2_Silent_p.C27C	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	27			C -> F (in RP12). {ECO:0000269|PubMed:19956407}.		cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTCCTTTTGCAATAAAAACA	0.328																																																	0													39	40	40					1																	197297562		2198	4299	6497	SO:0001819	synonymous_variant	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.81C>T	1.37:g.197297562C>T			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C27	ENST00000367400.3	37	c.81	CCDS1390.1	1																																																																																			CRB1	-	NULL	ENSG00000134376		0.328	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	22	0	C	NM_201253		197297562	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.930	T	T	197297562	C	T	197297562	2	4	59	1	0	0	0	0	0	0	0	1	3855	718	25	3		3	CRB1	1	197297562	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	345459	197297562	51953059	49	16757											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227288919	227288919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctatgctgcatactcctgGtgagtaactaatttgttttt	8	19	7	7	0	1	1	0	1	1	0	2	1	2	1	1	1	4	4	1	1	4	8			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:227288919G>T	ENST00000366769.3	-	15	3314	c.2023C>A	c.(2023-2025)Cca>Aca	p.P675T	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P594T|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P675T|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P675T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P675T(2)|p.P594T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATACTCCTGGTGAGTAACTA	0.259																																																	3	Substitution - Missense(3)	endometrium(3)											66	67	66					1																	227288919		2199	4293	6492	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2023C>A	1.37:g.227288919G>T	ENSP00000355731:p.Pro675Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P675T	ENST00000366769.3	37	c.2023	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.254280	0.22965	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.64803	-0.1;-0.1;-0.1;-0.11;-0.12;-0.09;-0.08	5.57	5.57	0.84162	.	0.211271	0.49916	D	0.000132	T	0.59321	0.2185	L	0.55481	1.735	0.42055	D	0.991132	B;B;B;B	0.15473	0.01;0.001;0.004;0.013	B;B;B;B	0.15484	0.007;0.003;0.013;0.008	T	0.55464	-0.8137	10	0.16896	T	0.51	.	19.5667	0.95397	0.0:0.0:1.0:0.0	.	675;675;594;675	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	T	675;594;675;675;675;675;675	ENSP00000355731:P675T;ENSP00000355729:P594T;ENSP00000335341:P675T;ENSP00000355728:P675T;ENSP00000355726:P675T;ENSP00000443275:P675T;ENSP00000355727:P675T	ENSP00000335341:P675T	P	-	1	0	CDC42BPA	225355542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.439000	0.44846	2.604000	0.88044	0.645000	0.84053	CCA	CDC42BPA	-	NULL	ENSG00000143776		0.259	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1		0	31	0	G	NM_014826		227288919	-1			no_errors	ENST00000334218	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	227288919	G	T	227288919	3	4	59	1	0	0	0	0	1	0	0	0	3079	1261	44	3	3224	3	CDC42BPA	1	227288919	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	29991357	227288919	21961702	50	16758											
URB2	9816	genome.wustl.edu	37	chr1	229781688	229781688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagtctgttgtggcgtgCgtgtccccagatagtcacag	8	10	13	10	2	2	1	1	0	1	1	3	1	3	1	2	1	2	2	2	1	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:229781688C>T	ENST00000258243.2	+	6	4014	c.3878C>T	c.(3877-3879)gCg>gTg	p.A1293V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1293						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTGTGGCGTGCGTGTCCCCAG	0.522																																																	0													215	190	198					1																	229781688		2203	4300	6503	SO:0001583	missense	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"nucleolar preribosomal-associated protein 1"		"KIAA0133"	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3878C>T	1.37:g.229781688C>T	ENSP00000258243:p.Ala1293Val		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.A1293V	ENST00000258243.2	37	c.3878	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	C	4.935	0.173684	0.09391	.	.	ENSG00000135763	ENST00000258243	T	0.30714	1.52	5.43	4.5	0.54988	.	0.448888	0.25575	N	0.029728	T	0.27832	0.0685	L	0.47716	1.5	0.09310	N	1	P	0.41498	0.752	B	0.39185	0.293	T	0.18493	-1.0335	9	.	.	.	-8.546	13.3838	0.60785	0.0:0.9227:0.0:0.0773	.	1293	Q14146	URB2_HUMAN	V	1293	ENSP00000258243:A1293V	.	A	+	2	0	URB2	227848311	0.004000	0.15560	0.030000	0.17652	0.981000	0.71138	1.855000	0.39378	2.709000	0.92574	0.491000	0.48974	GCG	URB2	-	NULL	ENSG00000135763		0.522	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	-	0	43	0	C	NM_014777		229781688	1	tier1	-	no_errors	ENST00000258243	ensembl	human	known	74_37	missense	48.65	19	18	SNP	0.023	T	T	229781688	C	T	229781688	3	4	59	1	0	0	0	0	1	0	0	0	17074	768	27	1	3896	1	URB2	1	229781688	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2492769	229781688	19468933	51	16759											
KIAA1804	84451	genome.wustl.edu	37	chr1	233511698	233511699	+	Frame_Shift_Del	DEL	AC	AC	-																															caataaaacttggggaaggaAcacagtctttcgacaagaag																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:233511698_233511699delAC	ENST00000366624.3	+	7	1973_1974	c.1712_1713delAC	c.(1711-1713)aacfs	p.N571fs	MLK4_ENST00000366622.1_Frame_Shift_Del_p.N17fs	NM_032435.2	NP_115811.2																					TGGGGAAGGAACACAGTCTTTC	0.322																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000366624.3:c.1712_1713delAC	1.37:g.233511700_233511701delAC	ENSP00000355583:p.Asn571fs			Frame_Shift_Del	DEL	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.T572fs	ENST00000366624.3	37	c.1712_1713	CCDS1598.1	1																																																																																			MLK4	-	pirsf_MAPKKK9/10/11	ENSG00000143674		0.322	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_gn	protein_coding	OTTHUMT00000092495.1		0	32	0	AC			233511699	1	tier1		no_errors	ENST00000366624	ensembl	human	known	74_37	frame_shift_del	72.41	8	21	DEL	1.000:0.997	-	-	233511699	AC	-	233511698	7	5	59	1	0	1	0	1	0	0	0	0	8286	43	2	0	1738	0	KIAA1804	1	233511698	Frame_Shift_Del	DEL	AC	TCGA-L5-A4OJ-01A-11D-A27G-09	3730010	233511698	15738923	52	16760											
OR2M2	391194	genome.wustl.edu	37	chr1	248343315	248343315	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaatcagaccttcaacTccgacttcatcctccttgga	10	10	8	13	1	3	2	3	0	0	2	6	5	6	3	4	2	1	0	4	2	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:248343315T>G	ENST00000359682.2	+	1	28	c.28T>G	c.(28-30)Tcc>Gcc	p.S10A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GACCTTCAACTCCGACTTCAT	0.428																																																	0													209	206	207					1																	248343315		2203	4300	6503	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.28T>G	1.37:g.248343315T>G	ENSP00000352710:p.Ser10Ala		A3KFT4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S10A	ENST00000359682.2	37	c.28	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	t	8.446	0.851989	0.17034	.	.	ENSG00000198601	ENST00000359682	T	0.00453	7.33	1.44	-2.87	0.05700	.	0.319420	0.17451	U	0.173770	T	0.00241	0.0007	L	0.31294	0.92	0.09310	N	1	P	0.36753	0.568	B	0.38106	0.265	T	0.47129	-0.9141	10	0.42905	T	0.14	.	6.4561	0.21930	0.5741:0.0:0.0:0.4259	.	10	Q96R28	OR2M2_HUMAN	A	10	ENSP00000352710:S10A	ENSP00000352710:S10A	S	+	1	0	OR2M2	246409938	0.000000	0.05858	0.000000	0.03702	0.332000	0.28634	-0.011000	0.12721	-0.206000	0.10203	0.248000	0.18094	TCC	OR2M2	-	NULL	ENSG00000198601		0.428	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0	75	0	T	NM_001004688		248343315	1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	missense	53.33	14	16	SNP	0.000	G	G	248343315	T	G	248343315	3	3	59	1	0	0	0	0	1	0	0	0	11049	1551	54	4	30	4	OR2M2	1	248343315	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	14831617	248343315	907306	53	16761											
OR2T6	254879	genome.wustl.edu	37	chr1	248551709	248551709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttccccaatcttaccacaCcccaatcaaagataaggtct	13	9	4	15	0	3	1	1	0	2	1	4	1	4	1	5	1	1	1	5	1	5	3	rs562359922		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr1:248551709C>T	ENST00000355728.2	+	1	800	c.800C>T	c.(799-801)aCc>aTc	p.T267I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTACCACACCCCAATCAAA	0.478																																																	0													161	152	155					1																	248551709		2203	4300	6503	SO:0001583	missense	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.800C>T	1.37:g.248551709C>T	ENSP00000347965:p.Thr267Ile		A6NE36	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.T267I	ENST00000355728.2	37	c.800	CCDS31114.1	1	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666186	0.14710	.	.	ENSG00000198104	ENST00000355728	T	0.00115	8.71	4.2	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000268	T	0.00210	0.0006	L	0.60845	1.875	0.20403	N	0.999909	P	0.38440	0.631	P	0.44811	0.461	T	0.19549	-1.0302	10	0.72032	D	0.01	.	4.1148	0.10076	0.1658:0.5845:0.1607:0.089	.	267	Q8NHC8	OR2T6_HUMAN	I	267	ENSP00000347965:T267I	ENSP00000347965:T267I	T	+	2	0	OR2T6	246618332	0.000000	0.05858	0.819000	0.32651	0.173000	0.22820	0.692000	0.25482	1.076000	0.40961	0.643000	0.83706	ACC	OR2T6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198104		0.478	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	-	0	46	0	C	NM_001005471		248551709	1	tier1	-	no_errors	ENST00000355728	ensembl	human	known	74_37	missense	54.17	11	13	SNP	0.391	T	T	248551709	C	T	248551709	3	4	59	1	0	0	0	0	1	0	0	0	11068	507	18	3	802	3	OR2T6	1	248551709	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	208394	248551709	698912	54	16762											
TPO	7173	genome.wustl.edu	37	chr2	1459994	1459994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaccagcaaagctgccttCgggggaggggctgactgcca	9	5	15	12	1	0	1	0	1	0	0	1	2	0	2	3	4	5	4	3	4	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:1459994C>T	ENST00000345913.4	+	7	850	c.759C>T	c.(757-759)ttC>ttT	p.F253F	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.F253F|TPO_ENST00000382198.1_Silent_p.F253F|TPO_ENST00000382201.3_Silent_p.F253F|TPO_ENST00000337415.3_Silent_p.F253F|TPO_ENST00000346956.3_Silent_p.F253F|TPO_ENST00000329066.4_Silent_p.F253F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	253					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGCTGCCTTCGGGGGAGGGG	0.473																																																	0													81	70	73					2																	1459994		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.759C>T	2.37:g.1459994C>T			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.F253	ENST00000345913.4	37	c.759	CCDS1643.1	2																																																																																			TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.473	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	-	0	20	0	C	NM_000547		1459994	1	tier1	-	no_errors	ENST00000329066	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.001	T	T	1459994	C	T	1459994	2	4	59	1	0	0	0	0	0	0	0	1	16458	883	31	1		1	TPO	2	1459994	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09		1459994	241739379	55	16763											
PUM2	23369	genome.wustl.edu	37	chr2	20508090	20508090	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacctgctgctgggaattGtagtcaaaaaggcctacagt	11	12	10	8	0	1	0	1	0	0	0	1	1	1	1	2	2	4	3	2	2	6	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:20508090G>T	ENST00000361078.2	-	5	796	c.774C>A	c.(772-774)taC>taA	p.Y258*	PUM2_ENST00000403432.1_Nonsense_Mutation_p.Y258*|PUM2_ENST00000338086.5_Nonsense_Mutation_p.Y258*|PUM2_ENST00000536417.1_Nonsense_Mutation_p.Y202*|PUM2_ENST00000319801.5_Nonsense_Mutation_p.Y258*|PUM2_ENST00000420234.1_5'Flank			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	258	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)	p.Y258Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGAATTGTAGTCAAAAA	0.423																																																	1	Substitution - coding silent(1)	endometrium(1)											59	58	58					2																	20508090		2203	4300	6503	SO:0001587	stop_gained	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.774C>A	2.37:g.20508090G>T	ENSP00000354370:p.Tyr258*		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Nonsense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.Y258*	ENST00000361078.2	37	c.774		2	.	.	.	.	.	.	.	.	.	.	G	36	5.935658	0.97122	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.3156	20.6243	0.99512	0.0:0.0:1.0:0.0	.	.	.	.	X	258;258;258;149;258;202;258	.	ENSP00000326746:Y258X	Y	-	3	2	PUM2	20371571	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.059000	0.89462	2.886000	0.99085	0.644000	0.83932	TAC	PUM2	-	NULL	ENSG00000055917		0.423	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding			0	12	0	G	NM_015317		20508090	-1			no_errors	ENST00000361078	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	1.000	T	T	20508090	G	T	20508090	4	4	59	1	0	0	0	0	0	1	0	0	12871	1372	48	3	2484	3	PUM2	2	20508090	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	19048096	20508090	222691283	56	16764											
ITSN2	50618	genome.wustl.edu	37	chr2	24432863	24432863	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtgtaagagcttccGgggccccaggcagttggtga	7	8	14	12	1	0	2	0	1	0	1	1	2	1	2	4	4	1	4	4	4	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:24432863G>T	ENST00000355123.4	-	35	4740	c.4297C>A	c.(4297-4299)Cgg>Agg	p.R1433R	ITSN2_ENST00000361999.3_Silent_p.R1406R	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1433					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAGCTTCCGGGGCCCCAGG	0.448																																																	0													131	129	130					2																	24432863		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"Rho guanine nucleotide exchange factors", "EF-hand domain containing"	6184	protein-coding gene	gene with protein product	"SH3 domain protein 1B", "SH3P18-like WASP associated protein"	604464	"SH3 domain protein 1B"	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4297C>A	2.37:g.24432863G>T			O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.R1433	ENST00000355123.4	37	c.4297	CCDS1710.2	2																																																																																			ITSN2	-	NULL	ENSG00000198399		0.448	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2		0	49	0	G	NM_006277		24432863	-1			no_errors	ENST00000355123	ensembl	human	known	74_37	silent	5.56	50	3	SNP	1.000	T	T	24432863	G	T	24432863	2	4	59	1	0	0	0	0	0	0	0	1	7954	1115	39	2		2	ITSN2	2	24432863	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3924773	24432863	218766510	57	16765											
NCOA1	8648	genome.wustl.edu	37	chr2	24949514	24949514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttggacaaccaggaacaGgcgatcagattccatggaca	15	7	10	9	1	1	1	1	0	0	1	2	5	2	4	2	4	2	0	2	4	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:24949514G>T	ENST00000406961.1	+	15	3308	c.2656G>T	c.(2656-2658)Ggc>Tgc	p.G886C	NCOA1_ENST00000538539.1_Missense_Mutation_p.G886C|NCOA1_ENST00000288599.5_Missense_Mutation_p.G886C|NCOA1_ENST00000405141.1_Missense_Mutation_p.G886C|NCOA1_ENST00000348332.3_Missense_Mutation_p.G886C|NCOA1_ENST00000407230.1_Missense_Mutation_p.G735C|NCOA1_ENST00000395856.3_Missense_Mutation_p.G886C			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	886	Interaction with CREBBP.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGGAACAGGCGATCAGAT	0.353			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													96	98	98					2																	24949514		2203	4299	6502	SO:0001583	missense	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2656G>T	2.37:g.24949514G>T	ENSP00000385216:p.Gly886Cys		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.G886C	ENST00000406961.1	37	c.2656	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441696	0.83993	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02067	4.58;4.59;4.47;4.59;4.58;4.59;4.58	5.38	5.38	0.77491	.	0.416899	0.28119	N	0.016526	T	0.06416	0.0165	N	0.24115	0.695	0.35769	D	0.82074	D;D;D;D	0.69078	0.997;0.995;0.997;0.987	D;P;D;P	0.65874	0.911;0.817;0.939;0.67	T	0.42982	-0.9419	10	0.66056	D	0.02	.	17.3256	0.87246	0.0:0.0:1.0:0.0	.	886;886;886;735	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	C	886;886;735;886;886;886;886	ENSP00000385216:G886C;ENSP00000385097:G886C;ENSP00000385195:G735C;ENSP00000444039:G886C;ENSP00000320940:G886C;ENSP00000288599:G886C;ENSP00000379197:G886C	ENSP00000288599:G886C	G	+	1	0	NCOA1	24803018	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	5.735000	0.68587	2.680000	0.91292	0.644000	0.83932	GGC	NCOA1	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.353	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3		0	55	0	G	NM_147223		24949514	1			no_errors	ENST00000348332	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.981	T	T	24949514	G	T	24949514	3	4	59	1	0	0	0	0	1	0	0	0	10267	1000	35	3	2698	3	NCOA1	2	24949514	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	516651	24949514	218249859	58	16766											
SLC4A1AP	22950	genome.wustl.edu	37	chr2	27886964	27886964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactccaattctggggaGcccgacatccctcctcctca	8	8	8	17	1	2	0	1	0	1	0	6	3	6	2	5	3	1	0	5	3	1	1	rs140696526		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:27886964G>A	ENST00000326019.6	+	1	627	c.345G>A	c.(343-345)gaG>gaA	p.E115E	SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000404798.2_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	115				SNSGE -> PIAKP (in Ref. 6; AAN12269). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ATTCTGGGGAGCCCGACATCC	0.642																																																	0													47	52	50					2																	27886964		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"lung cancer oncogene 3"	602655	"solute carrier family 4 (anion exchanger), member 1, adapter protein"			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.345G>A	2.37:g.27886964G>A			A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Silent	SNP	pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E115	ENST00000326019.6	37	c.345	CCDS33166.1	2																																																																																			SLC4A1AP	-	NULL	ENSG00000163798		0.642	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1AP	HGNC	protein_coding	OTTHUMT00000324550.1	-	0	41	0	G	NM_018158		27886964	1	tier1	-	no_errors	ENST00000326019	ensembl	human	known	74_37	silent	57.14	18	24	SNP	0.013	A	A	27886964	G	A	27886964	2	1	59	1	0	0	0	0	0	0	0	1	14698	962	34	3		3	SLC4A1AP	2	27886964	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2937450	27886964	215312409	59	16767											
STON1	11037	genome.wustl.edu	37	chr2	48808901	48808901	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatagagcagatgctgAagttggggtccacatcgtac	11	9	12	9	1	0	4	0	2	0	2	2	4	1	4	1	2	3	4	1	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:48808901A>C	ENST00000406226.1	+	3	1324	c.1129A>C	c.(1129-1131)Aag>Cag	p.K377Q	STON1_ENST00000404752.1_Missense_Mutation_p.K377Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K377Q|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K377Q|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K377Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K377Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K377Q|STON1_ENST00000309835.3_Missense_Mutation_p.K377Q	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	377	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGATGCTGAAGTTGGGGTC	0.413																																																	0													69	68	69					2																	48808901		2203	4300	6503	SO:0001583	missense	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1129A>C	2.37:g.48808901A>C	ENSP00000384615:p.Lys377Gln		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.K377Q	ENST00000406226.1	37	c.1129	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865302	0.71949	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.39056	1.37;1.37;1.37;1.15;1.1;1.15;1.15;1.38	5.16	5.16	0.70880	Stonin homology (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	M	0.81942	2.565	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.998	T	0.72137	-0.4381	10	0.87932	D	0	.	15.1597	0.72775	1.0:0.0:0.0:0.0	.	377;377;377	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	Q	377	ENSP00000385273:K377Q;ENSP00000384615:K377Q;ENSP00000310969:K377Q;ENSP00000385499:K377Q;ENSP00000385701:K377Q;ENSP00000378236:K377Q;ENSP00000311493:K377Q;ENSP00000378234:K377Q	ENSP00000310969:K377Q	K	+	1	0	STON1-GTF2A1L;STON1	48662405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.128000	0.94424	2.162000	0.67917	0.533000	0.62120	AAG	STON1-GTF2A1L	-	pfscan_SHD	ENSG00000068781		0.413	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	-	0	23	0	A	NM_006873		48808901	1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	C	C	48808901	A	C	48808901	3	2	59	1	0	0	0	0	1	0	0	0	15363	247	9	4	1131	4	STON1	2	48808901	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	20921937	48808901	194390472	60	16768											
FSHR	2492	genome.wustl.edu	37	chr2	49195944	49195944	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagcttttttaagttgtaAgtcgacctggccctcagctt	7	14	10	10	1	1	0	1	0	0	0	2	1	1	0	2	2	2	5	2	2	2	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:49195944A>C	ENST00000406846.2	-	9	866	c.747T>G	c.(745-747)acT>acG	p.T249T	FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Silent_p.T223T	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	249					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TTAAGTTGTAAGTCGACCTGG	0.448									Gonadal Dysgenesis, 46 XX																																								0													100	95	97					2																	49195944		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.747T>G	2.37:g.49195944A>C			A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.T249	ENST00000406846.2	37	c.747	CCDS1843.1	2																																																																																			FSHR	-	NULL	ENSG00000170820		0.448	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0	19	0	A			49195944	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	silent	43.75	9	7	SNP	0.908	C	C	49195944	A	C	49195944	2	2	59	1	0	0	0	0	0	0	0	1	6097	59	3	4		4	FSHR	2	49195944	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	387043	49195944	194003429	61	16769											
KIAA1841	84542	genome.wustl.edu	37	chr2	61331022	61331022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacatggttacacttcGtgatcaaggtgaaggcggag	11	8	14	8	2	1	2	1	2	0	0	2	4	1	4	1	5	1	1	1	5	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:61331022G>T	ENST00000402291.1	+	13	1641	c.1400G>T	c.(1399-1401)cGt>cTt	p.R467L	KIAA1841_ENST00000295031.5_Missense_Mutation_p.R467L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.R467L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R467L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	467										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GTTACACTTCGTGATCAAGGT	0.418																																																	0													185	143	157					2																	61331022		2203	4300	6503	SO:0001583	missense	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1400G>T	2.37:g.61331022G>T	ENSP00000385579:p.Arg467Leu		Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.R467L	ENST00000402291.1	37	c.1400	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	G	8.286	0.816646	0.16607	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	-1.98	0.07480	.	0.839728	0.10898	N	0.621882	T	0.08891	0.0220	N	0.02011	-0.69	0.09310	N	0.999993	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.26608	-1.0098	9	0.27082	T	0.32	0.082	2.5585	0.04766	0.4553:0.1678:0.2753:0.1016	.	467;467	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	L	467	.	ENSP00000295031:R467L	R	+	2	0	KIAA1841	61184526	0.006000	0.16342	0.263000	0.24496	0.270000	0.26580	0.116000	0.15561	-0.371000	0.08004	0.555000	0.69702	CGT	KIAA1841	-	NULL	ENSG00000162929		0.418	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1		0	57	0	G	NM_032506		61331022	1			no_errors	ENST00000356719	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.471	T	T	61331022	G	T	61331022	3	4	59	1	0	0	0	0	1	0	0	0	8288	1145	40	2	1442	2	KIAA1841	2	61331022	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	12135078	61331022	181868351	62	16770											
EHBP1	23301	genome.wustl.edu	37	chr2	63176034	63176034	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttgtgaggagacagatGaacaaaagcttcaaactcta	16	11	8	6	0	2	4	1	2	1	2	2	5	2	4	0	1	3	1	0	1	6	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:63176034G>T	ENST00000263991.5	+	14	2640	c.2158G>T	c.(2158-2160)Gaa>Taa	p.E720*	EHBP1_ENST00000405289.1_Nonsense_Mutation_p.E685*|EHBP1_ENST00000431489.1_Nonsense_Mutation_p.E685*|EHBP1_ENST00000405015.3_Nonsense_Mutation_p.E685*|EHBP1_ENST00000354487.3_Nonsense_Mutation_p.E685*	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	720						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GGAGACAGATGAACAAAAGCT	0.358																																																	0													70	76	74					2																	63176034		2203	4300	6503	SO:0001587	stop_gained	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2158G>T	2.37:g.63176034G>T	ENSP00000263991:p.Glu720*		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E720*	ENST00000263991.5	37	c.2158	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	G	43	10.041509	0.99324	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	.	.	.	5.66	0.954	0.19595	.	0.614363	0.16352	N	0.218154	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	4.7123	0.12879	0.3653:0.4084:0.2263:0.0	.	.	.	.	X	685;685;720;685;685	.	ENSP00000263991:E720X	E	+	1	0	EHBP1	63029538	0.929000	0.31497	0.018000	0.16275	0.887000	0.51463	1.642000	0.37207	0.241000	0.21283	0.655000	0.94253	GAA	EHBP1	-	NULL	ENSG00000115504		0.358	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1		0	30	0	G	NM_015252		63176034	1			no_errors	ENST00000263991	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.002	T	T	63176034	G	T	63176034	4	4	59	1	0	0	0	0	0	1	0	0	4989	1291	45	3	2208	3	EHBP1	2	63176034	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1845012	63176034	180023339	63	16771											
AFTPH	54812	genome.wustl.edu	37	chr2	64794826	64794826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttgccaataaaaacgaGagaggccttacctgaaagtg	15	8	9	9	1	0	2	0	1	0	1	0	4	0	2	3	1	3	0	3	1	6	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:64794826G>T	ENST00000422803.1	+	3	2380	c.2066G>T	c.(2065-2067)aGa>aTa	p.R689I	AFTPH_ENST00000238856.4_Missense_Mutation_p.R689I|AFTPH_ENST00000409933.1_Missense_Mutation_p.R689I|AFTPH_ENST00000238855.7_Missense_Mutation_p.R689I|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000409183.1_Missense_Mutation_p.R320I			Q6ULP2	AFTIN_HUMAN	aftiphilin	689					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATAAAAACGAGAGAGGCCTTA	0.368																																																	0													88	86	86					2																	64794826		2203	4300	6503	SO:0001583	missense	0			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.2066G>T	2.37:g.64794826G>T	ENSP00000397726:p.Arg689Ile		D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Missense_Mutation	SNP	NULL	p.R689I	ENST00000422803.1	37	c.2066		2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043272	0.75732	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933;ENST00000409183	T;T;T;T;T	0.47869	1.81;1.82;1.82;1.82;0.83	5.42	5.42	0.78866	.	0.326036	0.34828	N	0.003649	T	0.53384	0.1793	L	0.59436	1.845	0.51767	D	0.999934	P;P;P;P	0.50617	0.755;0.874;0.467;0.937	B;B;B;P	0.51385	0.295;0.387;0.154;0.668	T	0.55642	-0.8109	10	0.62326	D	0.03	-5.4979	10.7532	0.46221	0.1167:0.0:0.8833:0.0	.	689;689;689;689	Q6ULP2;Q6ULP2-2;Q6ULP2-5;Q6ULP2-4	AFTIN_HUMAN;.;.;.	I	689;689;689;689;320	ENSP00000238856:R689I;ENSP00000397726:R689I;ENSP00000238855:R689I;ENSP00000387071:R689I;ENSP00000386913:R320I	ENSP00000238855:R689I	R	+	2	0	AFTPH	64648330	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.099000	0.31013	2.703000	0.92315	0.655000	0.94253	AGA	AFTPH	-	NULL	ENSG00000119844		0.368	AFTPH-202	KNOWN	basic	protein_coding	AFTPH	HGNC	protein_coding			0	18	0	G	NM_017657		64794826	1			no_errors	ENST00000422803	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	64794826	G	T	64794826	3	4	59	1	0	0	0	0	1	0	0	0	364	942	33	3	2072	3	AFTPH	2	64794826	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1618792	64794826	178404547	64	16772											
AAK1	22848	genome.wustl.edu	37	chr2	69732700	69732700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggtatttgccatactaaCcagttccagcagaaaatgag	14	9	8	10	0	0	2	0	1	0	1	1	2	1	2	4	1	4	3	4	1	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:69732700C>T	ENST00000409085.4	-	16	2646		c.e16+1		AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Splice_Site	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCCATACTAACCAGTTCCAGC	0.463																																																	0													75	73	74					2																	69732700		1899	4127	6026	SO:0001630	splice_region_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2269+1G>A	2.37:g.69732700C>T			Q4ZFZ3|Q53RX6|Q9UPV4	Splice_Site	SNP	-	e15+1	ENST00000409085.4	37	c.2269+1	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907465	0.72868	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3583	0.90365	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AAK1	69586204	1.000000	0.71417	0.999000	0.59377	0.808000	0.45660	5.089000	0.64492	2.675000	0.91044	0.655000	0.94253	.	AAK1	-	-	ENSG00000115977		0.463	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4		0	31	0	C	NM_014911	Intron	69732700	-1			no_errors	ENST00000409085	ensembl	human	known	74_37	splice_site	14.29	18	3	SNP	1.000	T	T	69732700	C	T	69732700	5	4	59	1	0	0	0	0	0	0	1	0	16	521	18	3	643	3	AAK1	2	69732700	Splice_Site	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4937874	69732700	173466673	65	16773											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746109	77746109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatatccacgcattgacagTttcctgtgagatattggtga	10	14	10	7	1	0	4	0	4	0	1	2	5	2	4	2	1	0	2	2	1	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:77746109T>C	ENST00000409093.1	-	3	1222	c.886A>G	c.(886-888)Act>Gct	p.T296A	LRRTM4_ENST00000409911.1_Missense_Mutation_p.T297A|LRRTM4_ENST00000409088.3_Missense_Mutation_p.T296A|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T296A|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T297A			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	296					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GCATTGACAGTTTCCTGTGAG	0.378																																																	0													46	43	44					2																	77746109		1861	4106	5967	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.886A>G	2.37:g.77746109T>C	ENSP00000386357:p.Thr296Ala		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T297A	ENST00000409093.1	37	c.889	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	T	8.259	0.810832	0.16537	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71	5.84	5.84	0.93424	.	0.158494	0.56097	D	0.000024	T	0.04092	0.0114	N	0.20445	0.575	0.43517	D	0.995789	B;B;B	0.13594	0.008;0.001;0.008	B;B;B	0.20577	0.017;0.01;0.03	T	0.43766	-0.9371	10	0.09590	T	0.72	.	15.0295	0.71696	0.0:0.0:0.0:1.0	.	297;296;296	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	A	297;296;296;296;297	ENSP00000387228:T297A;ENSP00000387297:T296A;ENSP00000386357:T296A;ENSP00000386236:T296A;ENSP00000386286:T297A	ENSP00000386236:T296A	T	-	1	0	LRRTM4	77599617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.544000	0.45761	2.220000	0.72140	0.533000	0.62120	ACT	LRRTM4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.378	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	22	0	T	NM_024993		77746109	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	C	C	77746109	T	C	77746109	3	2	59	1	0	0	0	0	1	0	0	0	9077	1725	60	4	900	4	LRRTM4	2	77746109	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	8013409	77746109	165453264	66	16774											
ANAPC1	64682	genome.wustl.edu	37	chr2	112605344	112605344	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatctctgatagaatgaatGtaagttccaagctgttggaa	13	12	11	5	0	1	3	0	2	1	1	3	5	2	5	1	2	1	4	1	2	6	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:112605344G>T	ENST00000341068.3	-	15	2521	c.1749C>A	c.(1747-1749)taC>taA	p.Y583*		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	583					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAGAATGAATGTAAGTTCCAA	0.403																																																	0													86	70	75					2																	112605344		2203	4300	6503	SO:0001587	stop_gained	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1749C>A	2.37:g.112605344G>T	ENSP00000339109:p.Tyr583*		Q2M3H8|Q9BSE6|Q9H8D0	Nonsense_Mutation	SNP	NULL	p.Y583*	ENST00000341068.3	37	c.1749	CCDS2093.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.700809|11.700809	0.99592|0.99592	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|.	.|.	.|.	4.77|4.77	-4.0|-4.0	0.04057|0.04057	.|.	.|0.000000	.|0.41605	.|U	.|0.000846	T|.	0.23210|.	0.0561|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41716|.	-0.9493|.	3|.	.|0.02654	.|T	.|1	-15.25|-15.25	13.2668|13.2668	0.60139|0.60139	0.6192:0.0:0.3808:0.0|0.6192:0.0:0.3808:0.0	.|.	.|.	.|.	.|.	N|X	118|583	.|.	.|ENSP00000339109:Y583X	H|Y	-|-	1|3	0|2	ANAPC1|ANAPC1	112321815|112321815	0.880000|0.880000	0.30214|0.30214	0.766000|0.766000	0.31476|0.31476	0.951000|0.951000	0.60555|0.60555	-0.048000|-0.048000	0.11944|0.11944	-1.244000|-1.244000	0.02516|0.02516	-0.455000|-0.455000	0.05494|0.05494	CAT|TAC	ANAPC1	-	NULL	ENSG00000153107		0.403	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	-	0	74	0	G	NM_022662		112605344	-1	tier1	-	no_errors	ENST00000341068	ensembl	human	known	74_37	nonsense	40.21	58	39	SNP	0.959	T	T	112605344	G	T	112605344	4	4	59	1	0	0	0	0	0	1	0	0	598	1372	48	3	4221	3	ANAPC1	2	112605344	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	34859235	112605344	130594029	67	16775											
RGPD5	727851	genome.wustl.edu	37	chr2	113147112	113147112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtttggcatcaccatcaGagaaatcactggctgaccac	12	9	8	12	0	3	2	3	1	0	1	3	3	3	2	2	2	0	3	2	2	2	2	rs527746353		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:113147112G>T	ENST00000302558.3	-	20	3601	c.3410C>A	c.(3409-3411)tCt>tAt	p.S1137Y	RGPD8_ENST00000409750.1_Missense_Mutation_p.S997Y	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1137	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						ATCACCATCAGAGAAATCACT	0.453																																																	0													16	14	15					2																	113147112		691	1578	2269	SO:0001583	missense	0			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"Tetratricopeptide (TTC) repeat domain containing"	9849	protein-coding gene	gene with protein product		602752	"RAN binding protein 2-like 1"	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3410C>A	2.37:g.113147112G>T	ENSP00000306637:p.Ser1137Tyr		Q5CZA8	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1137Y	ENST00000302558.3	37	c.3410	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	-	10.33	1.320392	0.23994	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.46451	0.87;0.87	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.66157	0.2761	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71699	-0.4514	9	0.87932	D	0	-29.2216	10.3508	0.43934	0.0:0.0:1.0:0.0	.	1137	O14715	RGPD8_HUMAN	Y	1137;997	ENSP00000306637:S1137Y;ENSP00000386511:S997Y	ENSP00000306637:S1137Y	S	-	2	0	RGPD8	112863583	1.000000	0.71417	0.998000	0.56505	0.395000	0.30598	9.529000	0.98049	1.299000	0.44798	0.152000	0.16155	TCT	RGPD8	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000169629		0.453	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	-	0	130	0	G	XM_001722279		113147112	-1	tier1	-	no_errors	ENST00000302558	ensembl	human	known	74_37	missense	21.76	133	37	SNP	1.000	T	T	113147112	G	T	113147112	3	4	59	1	0	0	0	0	1	0	0	0	13334	942	33	3	12917	3	RGPD5	2	113147112	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	541768	113147112	130052261	68	16776											
PCDP1	200373	genome.wustl.edu	37	chr2	120404598	120404598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatccttgatgccttaccaGaagaggacagactagaaaca	15	7	8	11	0	0	5	0	1	0	4	1	6	1	6	4	1	3	0	4	1	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:120404598G>A	ENST00000413369.3	+	22	2377	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	PCDP1_ENST00000602047.1_Missense_Mutation_p.E478K	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TGCCTTACCAGAAGAGGACAG	0.408																																																	0													122	120	121					2																	120404598		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.2290G>A	2.37:g.120404598G>A	ENSP00000393222:p.Glu764Lys			Missense_Mutation	SNP	NULL	p.E764K	ENST00000413369.3	37	c.2290	CCDS33282.2	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098904	0.76870	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.39056	1.1	4.52	4.52	0.55395	.	0.329212	0.27100	N	0.020938	T	0.42154	0.1190	L	0.43923	1.385	0.80722	D	1	P	0.45902	0.868	P	0.46758	0.526	T	0.36261	-0.9755	10	0.54805	T	0.06	-7.7817	12.6101	0.56546	0.0:0.0:1.0:0.0	.	764	Q4G0U5	PCDP1_HUMAN	K	478;764	ENSP00000393222:E764K	ENSP00000295220:E478K	E	+	1	0	AC069154.2	120121068	1.000000	0.71417	0.996000	0.52242	0.850000	0.48378	4.792000	0.62467	2.351000	0.79841	0.555000	0.69702	GAA	PCDP1	-	NULL	ENSG00000163075		0.408	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_gn	protein_coding	OTTHUMT00000464236.1	-	0	37	0	G			120404598	1	tier1	-	no_errors	ENST00000413369	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.988	A	A	120404598	G	A	120404598	3	1	59	1	0	0	0	0	1	0	0	0	11611	943	33	3	1486	3	PCDP1	2	120404598	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7257486	120404598	122794775	69	16777											
THSD7B	80731	genome.wustl.edu	37	chr2	138320876	138320876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcaaaatcaacaatgAgctgaggtccctgcgctgtg	11	10	10	10	1	2	2	2	2	0	0	3	2	3	2	1	1	4	3	1	1	4	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:138320876A>G	ENST00000409968.1	+	16	3402	c.3224A>G	c.(3223-3225)gAg>gGg	p.E1075G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1047G|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1078G			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1077	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCAACAATGAGCTGAGGTCC	0.453																																																	0													108	102	103					2																	138320876		1969	4151	6120	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3224A>G	2.37:g.138320876A>G	ENSP00000387145:p.Glu1075Gly			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.E1078G	ENST00000409968.1	37	c.3233		2	.	.	.	.	.	.	.	.	.	.	A	17.82	3.483808	0.63962	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24350	2.39;2.23;1.86	5.41	5.41	0.78517	.	0.110518	0.64402	D	0.000008	T	0.40347	0.1113	L	0.55481	1.735	0.80722	D	1	D	0.56521	0.976	P	0.57911	0.829	T	0.07578	-1.0765	10	0.23891	T	0.37	.	15.7835	0.78281	1.0:0.0:0.0:0.0	.	1047	C9JKN6	.	G	1075;1078;1047	ENSP00000387145:E1075G;ENSP00000272643:E1078G;ENSP00000413841:E1047G	ENSP00000272643:E1078G	E	+	2	0	THSD7B	138037346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.063000	0.71162	2.190000	0.69967	0.477000	0.44152	GAG	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.453	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	34	0	A	XM_046570.9		138320876	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	G	G	138320876	A	G	138320876	3	3	59	1	0	0	0	0	1	0	0	0	15927	304	11	4	3194	4	THSD7B	2	138320876	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	17916278	138320876	104878497	70	16778											
LRP1B	53353	genome.wustl.edu	37	chr2	140997075	140997075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaagtcaccaagaggaCgagaggcacaatgatggcaa	17	5	11	8	1	2	3	2	1	0	2	2	5	2	4	1	3	0	2	1	3	5	1	rs369522771		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:140997075C>T	ENST00000389484.3	-	88	14322	c.13351G>A	c.(13351-13353)Gtc>Atc	p.V4451I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4451					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCAAGAGGACGAGAGGCACA	0.318										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								C	ILE/VAL	1,4395	2.1+/-5.4	0,1,2197	100	93	96		13351	4.6	1	2		96	0,8598		0,0,4299	no	missense	LRP1B	NM_018557.2	29	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	4451/4600	140997075	1,12993	2198	4299	6497	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13351G>A	2.37:g.140997075C>T	ENSP00000374135:p.Val4451Ile		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V4451I	ENST00000389484.3	37	c.13351	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056500	0.36277	2.27E-4	0.0	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.42513	0.97	5.47	4.59	0.56863	.	0.164149	0.39759	U	0.001270	T	0.29093	0.0723	L	0.38175	1.15	0.37605	D	0.920719	P	0.45715	0.865	B	0.32465	0.146	T	0.22382	-1.0218	10	0.34782	T	0.22	.	14.1302	0.65247	0.0:0.9274:0.0:0.0726	.	4451	Q9NZR2	LRP1B_HUMAN	I	4451;4389	ENSP00000374135:V4451I	ENSP00000374135:V4451I	V	-	1	0	LRP1B	140713545	1.000000	0.71417	0.962000	0.40283	0.019000	0.09904	4.406000	0.59748	1.308000	0.44962	-0.218000	0.12543	GTC	LRP1B	-	NULL	ENSG00000168702		0.318	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0	27	0	C	NM_018557		140997075	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	140997075	C	T	140997075	3	4	59	1	0	0	0	0	1	0	0	0	8990	536	19	1	464	1	LRP1B	2	140997075	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2676199	140997075	102202298	71	16779											
STAM2	10254	genome.wustl.edu	37	chr2	153001458	153001458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacgtaccattcttggcaGcagctgagacagtctgtaaa	12	10	10	9	1	2	2	0	2	2	1	2	3	2	2	1	1	3	5	1	1	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:153001458G>T	ENST00000263904.4	-	6	810	c.461C>A	c.(460-462)gCt>gAt	p.A154D	STAM2_ENST00000465460.1_Intron	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	154					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ATTCTTGGCAGCAGCTGAGAC	0.328																																																	0													226	207	214					2																	153001458		2203	4300	6503	SO:0001583	missense	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.461C>A	2.37:g.153001458G>T	ENSP00000263904:p.Ala154Asp		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.A154D	ENST00000263904.4	37	c.461	CCDS2196.1	2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096441	0.56075	.	.	ENSG00000115145	ENST00000263904	T	0.19806	2.12	5.38	4.5	0.54988	Src homology-3 domain (1);	1.559180	0.03401	N	0.203404	T	0.28067	0.0692	L	0.36672	1.1	0.33524	D	0.592705	B;B	0.28512	0.214;0.032	B;B	0.39617	0.305;0.027	T	0.11275	-1.0594	10	0.20046	T	0.44	-1.8757	13.5447	0.61695	0.0749:0.0:0.9251:0.0	.	154;154	O75886-2;O75886	.;STAM2_HUMAN	D	154	ENSP00000263904:A154D	ENSP00000263904:A154D	A	-	2	0	STAM2	152709704	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.943000	0.49026	2.512000	0.84698	0.579000	0.79373	GCT	STAM2	-	superfamily_SH3_domain	ENSG00000115145		0.328	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	-	0	34	0	G	NM_005843		153001458	-1	tier1	-	no_errors	ENST00000263904	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	153001458	G	T	153001458	3	4	59	1	0	0	0	0	1	0	0	0	15296	971	34	3	1152	3	STAM2	2	153001458	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	12004383	153001458	90197915	72	16780											
LY75	4065	genome.wustl.edu	37	chr2	160692031	160692031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacctggttgattgtcattGcaatcaactgttttccagaa	10	14	8	9	0	2	2	2	1	0	1	3	2	3	2	2	1	2	4	2	1	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:160692031G>A	ENST00000263636.4	-	26	3660	c.3633C>T	c.(3631-3633)tgC>tgT	p.C1211C	LY75_ENST00000554112.1_Silent_p.C1211C|LY75_ENST00000553424.1_Silent_p.C1211C|LY75-CD302_ENST00000504764.1_Silent_p.C1211C|LY75-CD302_ENST00000505052.1_Silent_p.C1211C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1211	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GATTGTCATTGCAATCAACTG	0.368																																																	0													86	79	81					2																	160692031		2203	4300	6503	SO:0001819	synonymous_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3633C>T	2.37:g.160692031G>A			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.C1211	ENST00000263636.4	37	c.3633	CCDS2211.1	2																																																																																			LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.368	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	42	0	G			160692031	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.007	A	A	160692031	G	A	160692031	2	1	59	1	0	0	0	0	0	0	0	1	9135	1311	46	3		3	LY75	2	160692031	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7690573	160692031	82507342	73	16781											
CSRNP3	80034	genome.wustl.edu	37	chr2	166535293	166535293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaatttaatcctatccGtgttcggactcactttttgc	9	17	6	9	2	1	1	1	1	0	0	4	2	3	2	2	1	1	1	2	1	4	7	rs538593922		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:166535293G>A	ENST00000342316.4	+	5	1060	c.788G>A	c.(787-789)cGt>cAt	p.R263H	CSRNP3_ENST00000409420.1_Missense_Mutation_p.R295H|CSRNP3_ENST00000314499.7_Missense_Mutation_p.R263H	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	263					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATCCTATCCGTGTTCGGACT	0.443													G|||	1	0.000199681	8e-04	0	5008	,	,		18529	0		0	False		,,,				2504	0																0													102	97	99					2																	166535293		2203	4300	6503	SO:0001583	missense	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30729	protein-coding gene	gene with protein product	"TGF beta induced apotosis protein 2", "protein phosphatase 1, regulatory subunit 73"		"family with sequence similarity 130, member A2"	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.788G>A	2.37:g.166535293G>A	ENSP00000344042:p.Arg263His		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.R263H	ENST00000342316.4	37	c.788	CCDS2225.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124612	0.77436	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.59	5.59	0.84812	.	0.050173	0.85682	D	0.000000	T	0.67692	0.2920	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.70949	-0.4733	10	0.87932	D	0	-15.1003	18.5751	0.91151	0.0:0.0:1.0:0.0	.	263	Q8WYN3	CSRN3_HUMAN	H	263;270;263;263;295	ENSP00000412081:R263H;ENSP00000318258:R263H;ENSP00000344042:R263H;ENSP00000387195:R295H	ENSP00000318258:R263H	R	+	2	0	CSRNP3	166243539	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.624000	0.88883	0.650000	0.86243	CGT	CSRNP3	-	NULL	ENSG00000178662		0.443	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	-	0	59	0	G	NM_024969		166535293	1	tier1	-	no_errors	ENST00000314499	ensembl	human	known	74_37	missense	32.79	41	20	SNP	1.000	A	A	166535293	G	A	166535293	3	1	59	1	0	0	0	0	1	0	0	0	3974	1145	40	1	802	1	CSRNP3	2	166535293	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5843262	166535293	76664080	74	16782											
XIRP2	129446	genome.wustl.edu	37	chr2	168100411	168100411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaaataataggtacaGatgtctccagaaagtgttgg	17	9	11	4	0	1	2	0	0	1	2	2	3	1	3	1	3	1	2	1	3	7	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:168100411G>T	ENST00000409195.1	+	9	2598	c.2509G>T	c.(2509-2511)Gat>Tat	p.D837Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D837Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.D615Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	662					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATAGGTACAGATGTCTCCAG	0.393																																																	0													89	89	89					2																	168100411		1825	4081	5906	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2509G>T	2.37:g.168100411G>T	ENSP00000386840:p.Asp837Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D837Y	ENST00000409195.1	37	c.2509	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947859	0.53186	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.64085	-0.08;-0.08;-0.08	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79930	0.4531	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.81629	-0.0846	10	0.87932	D	0	-23.3832	16.278	0.82656	0.0:0.1326:0.8674:0.0	.	662;662;615	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	837;837;615	ENSP00000386840:D837Y;ENSP00000295237:D837Y;ENSP00000387255:D615Y	ENSP00000295237:D837Y	D	+	1	0	XIRP2	167808657	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.435000	0.66532	2.754000	0.94517	0.650000	0.86243	GAT	XIRP2	-	pfam_Actin-binding_Xin_repeat	ENSG00000163092		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	16	0	G	NM_152381		168100411	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T	T	168100411	G	T	168100411	3	4	59	1	0	0	0	0	1	0	0	0	17479	942	33	3	2539	3	XIRP2	2	168100411	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1565118	168100411	75098962	75	16783											
GPR155	151556	genome.wustl.edu	37	chr2	175333663	175333663	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagatcaggctgacaatacTtatatcaaaactaacattct	16	11	6	8	0	3	2	2	1	1	1	3	3	3	2	0	2	3	1	0	2	7	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:175333663T>G	ENST00000392552.2	-	5	1397	c.1159A>C	c.(1159-1161)Agt>Cgt	p.S387R	GPR155_ENST00000392551.2_Missense_Mutation_p.S387R|GPR155_ENST00000295500.4_Missense_Mutation_p.S387R	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	387					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTGACAATACTTATATCAAAA	0.418																																																	0													188	175	179					2																	175333663		2203	4300	6503	SO:0001583	missense	0			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1159A>C	2.37:g.175333663T>G	ENSP00000376335:p.Ser387Arg		B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.S387R	ENST00000392552.2	37	c.1159	CCDS2259.1	2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.921807	0.92319	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.69040	-0.37;-0.37;-0.37	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81569	0.4850	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83339	-0.0009	10	0.87932	D	0	-16.2721	16.6277	0.84984	0.0:0.0:0.0:1.0	.	387	Q7Z3F1	GP155_HUMAN	R	387	ENSP00000376335:S387R;ENSP00000376334:S387R;ENSP00000295500:S387R	ENSP00000295500:S387R	S	-	1	0	GPR155	175041909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.330000	0.79161	0.528000	0.53228	AGT	GPR155	-	NULL	ENSG00000163328		0.418	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	-	0	18	0	T	NM_152529		175333663	-1	tier1	-	no_errors	ENST00000295500	ensembl	human	known	74_37	missense	35.71	9	5	SNP	1.000	G	G	175333663	T	G	175333663	3	3	59	1	0	0	0	0	1	0	0	0	6686	1609	56	4	1501	4	GPR155	2	175333663	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	7233252	175333663	67865710	76	16784											
WIPF1	7456	genome.wustl.edu	37	chr2	175436912	175436912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgcctggggcctccGggcactggtggggacccccg	2	6	18	15	2	0	0	0	0	0	0	1	1	1	1	5	7	1	2	5	7	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:175436912G>A	ENST00000392547.2	-	5	720	c.621C>T	c.(619-621)ccC>ccT	p.P207P	WIPF1_ENST00000359761.3_Silent_p.P207P|WIPF1_ENST00000272746.5_Silent_p.P207P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P207P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P207P|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409415.3_Silent_p.P207P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	207					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGGGCCTCCGGGCACTGGTG	0.632																																																	0																																										SO:0001819	synonymous_variant	0			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.621C>T	2.37:g.175436912G>A			B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.P207	ENST00000392547.2	37	c.621	CCDS2260.1	2																																																																																			WIPF1	-	NULL	ENSG00000115935		0.632	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	HGNC	protein_coding	OTTHUMT00000255453.1	-	0	15	0	G	NM_003387		175436912	-1	tier1	-	no_errors	ENST00000272746	ensembl	human	known	74_37	silent	36.84	12	7	SNP	0.019	A	A	175436912	G	A	175436912	2	1	59	1	0	0	0	0	0	0	0	1	17416	1103	39	1		1	WIPF1	2	175436912	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	103249	175436912	67762461	77	16785											
TTN	7273	genome.wustl.edu	37	chr2	179590609	179590609	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtgaatacttgtgtggaAgtttttggatgcaatcttgt	10	17	11	3	0	1	1	0	1	1	0	1	3	1	3	0	2	2	2	0	2	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:179590609A>C	ENST00000591111.1	-	68	19713	c.19489T>G	c.(19489-19491)Ttc>Gtc	p.F6497V	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.F6814V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F5570V			Q8WZ42	TITIN_HUMAN	titin	12098	Ig-like 46.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGTGTGGAAGTTTTTGGAT	0.428																																																	0													124	119	121					2																	179590609		1903	4148	6051	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19489T>G	2.37:g.179590609A>C	ENSP00000465570:p.Phe6497Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.F5570V	ENST00000591111.1	37	c.16708		2	.	.	.	.	.	.	.	.	.	.	A	9.962	1.223173	0.22457	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54464	0.1860	L	0.48877	1.53	0.80722	D	1	B	0.26147	0.143	B	0.23275	0.045	T	0.56733	-0.7930	9	0.87932	D	0	.	10.6206	0.45478	0.9284:0.0:0.0716:0.0	.	6497	Q8WZ42	TITIN_HUMAN	V	5570	ENSP00000343764:F5570V	ENSP00000343764:F5570V	F	-	1	0	TTN	179298854	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	4.131000	0.57970	2.311000	0.77944	0.533000	0.62120	TTC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	58	0	A	NM_133378		179590609	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.998	C	C	179590609	A	C	179590609	3	2	59	1	0	0	0	0	1	0	0	0	16784	72	3	4	84261	4	TTN	2	179590609	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	4153697	179590609	63608764	78	16786											
TTN	7273	genome.wustl.edu	37	chr2	179649066	179649066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgtggcaatagcactacCggctattgatgcctacatgg	11	11	10	9	1	0	1	0	1	0	0	0	1	0	1	2	3	4	3	2	3	6	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:179649066C>T	ENST00000591111.1	-	16	2730	c.2506G>A	c.(2506-2508)Ggt>Agt	p.G836S	TTN_ENST00000359218.5_Missense_Mutation_p.G790S|TTN_ENST00000460472.2_Missense_Mutation_p.G790S|TTN_ENST00000589042.1_Missense_Mutation_p.G836S|TTN_ENST00000342175.6_Missense_Mutation_p.G790S|TTN_ENST00000342992.6_Missense_Mutation_p.G836S|TTN_ENST00000360870.5_Missense_Mutation_p.G836S			Q8WZ42	TITIN_HUMAN	titin	33667					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G836R(3)|p.G790R(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGCACTACCGGCTATTGAT	0.453																																																	6	Substitution - Missense(6)	lung(6)											60	54	56					2																	179649066		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2506G>A	2.37:g.179649066C>T	ENSP00000465570:p.Gly836Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G836S	ENST00000591111.1	37	c.2506		2	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641320	0.67244	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.81163	-1.46;-1.24;-1.27;-1.28;-0.16	5.52	5.52	0.82312	Ribonuclease H-like (1);	.	.	.	.	D	0.86247	0.5887	L	0.36672	1.1	0.41321	D	0.987176	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	P;P;P;D;D	0.79108	0.854;0.854;0.854;0.916;0.992	D	0.87284	0.2294	9	0.87932	D	0	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	790;790;790;836;836	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	836;790;790;790;790;836	ENSP00000343764:G836S;ENSP00000434586:G790S;ENSP00000340554:G790S;ENSP00000352154:G790S;ENSP00000354117:G836S	ENSP00000340554:G790S	G	-	1	0	TTN	179357311	1.000000	0.71417	0.871000	0.34182	0.996000	0.88848	7.447000	0.80620	2.767000	0.95098	0.655000	0.94253	GGT	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	23	0	C	NM_133378		179649066	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.999	T	T	179649066	C	T	179649066	3	4	59	1	0	0	0	0	1	0	0	0	16784	652	23	1	108870	1	TTN	2	179649066	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	58457	179649066	63550307	79	16787											
ZNF804A	91752	genome.wustl.edu	37	chr2	185802136	185802136	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatccttaagtgacaatgaAgaaatgtgtaaaacatggaa	19	10	8	4	0	0	3	0	2	0	1	1	4	1	4	1	1	1	1	1	1	8	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:185802136A>C	ENST00000302277.6	+	4	2607	c.2013A>C	c.(2011-2013)gaA>gaC	p.E671D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	671							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTGACAATGAAGAAATGTGTA	0.313																																																	0													83	86	85					2																	185802136		2203	4296	6499	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2013A>C	2.37:g.185802136A>C	ENSP00000303252:p.Glu671Asp		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E671D	ENST00000302277.6	37	c.2013	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039470	0.75617	.	.	ENSG00000170396	ENST00000302277	T	0.06687	3.27	5.54	1.85	0.25348	.	0.367231	0.23162	N	0.051233	T	0.08044	0.0201	L	0.53249	1.67	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.28839	-1.0031	10	0.42905	T	0.14	-9.3478	5.2704	0.15622	0.7239:0.0:0.1445:0.1316	.	671	Q7Z570	Z804A_HUMAN	D	671	ENSP00000303252:E671D	ENSP00000303252:E671D	E	+	3	2	ZNF804A	185510381	0.985000	0.35326	0.222000	0.23844	0.576000	0.36127	1.220000	0.32491	0.080000	0.16959	0.533000	0.62120	GAA	ZNF804A	-	NULL	ENSG00000170396		0.313	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	21	0	A	NM_194250		185802136	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	40.00	21	14	SNP	0.015	C	C	185802136	A	C	185802136	3	2	59	1	0	0	0	0	1	0	0	0	18218	69	3	4	2027	4	ZNF804A	2	185802136	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	6153070	185802136	57397237	80	16788											
ZSWIM2	151112	genome.wustl.edu	37	chr2	187693010	187693010	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactagtgtgaaattttcCactgatgcatggactttcca	11	14	8	8	0	0	3	0	2	0	1	2	4	2	4	2	1	1	1	2	1	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:187693010C>A	ENST00000295131.2	-	9	1642	c.1603G>T	c.(1603-1605)Gga>Tga	p.G535*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	535					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGAAATTTTCCACTGATGCAT	0.403																																																	0													85	81	82					2																	187693010		2203	4300	6503	SO:0001587	stop_gained	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"Zinc fingers, SWIM-type", "Zinc fingers, ZZ-type"	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1603G>T	2.37:g.187693010C>A	ENSP00000295131:p.Gly535*		B3KXV6|Q53SI3|Q57ZY3	Nonsense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.G535*	ENST00000295131.2	37	c.1603	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	C	11.82	1.751336	0.31046	.	.	ENSG00000163012	ENST00000295131	.	.	.	5.46	0.995	0.19838	.	0.703722	0.13486	N	0.384311	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-1.4912	7.8494	0.29446	0.0:0.5765:0.0:0.4235	.	.	.	.	X	535	.	ENSP00000295131:G535X	G	-	1	0	ZSWIM2	187401255	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	0.490000	0.22403	0.267000	0.21916	0.491000	0.48974	GGA	ZSWIM2	-	NULL	ENSG00000163012		0.403	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1		0	15	0	C	NM_182521		187693010	-1			no_errors	ENST00000295131	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.001	A	A	187693010	C	A	187693010	4	1	59	1	0	0	0	0	0	1	0	0	18289	603	21	3	302	3	ZSWIM2	2	187693010	Nonsense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	1890874	187693010	55506363	81	16789											
STK17B	9262	genome.wustl.edu	37	chr2	197004398	197004398	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccagctgtgaaactGatgaaaaagtttcttccgaa	12	11	10	8	1	1	3	0	3	1	0	2	4	2	3	2	1	2	2	2	1	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:197004398G>T	ENST00000263955.4	-	7	1068	c.782C>A	c.(781-783)tCa>tAa	p.S261*	STK17B_ENST00000409228.1_Nonsense_Mutation_p.S261*	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			CTGTGAAACTGATGAAAAAGT	0.294																																																	0													86	89	88					2																	197004398		2203	4298	6501	SO:0001587	stop_gained	0			AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"death-associated protein kinase-related 2"	604727	"serine/threonine kinase 17b (apoptosis-inducing)"			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.782C>A	2.37:g.197004398G>T	ENSP00000263955:p.Ser261*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S261*	ENST00000263955.4	37	c.782	CCDS2315.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.378606	0.97520	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	.	.	.	5.11	4.22	0.49857	.	0.000000	0.39210	N	0.001433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8931	0.63753	0.0:0.1524:0.8476:0.0	.	.	.	.	X	261	.	ENSP00000263955:S261X	S	-	2	0	STK17B	196712643	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	3.371000	0.52379	1.335000	0.45486	0.591000	0.81541	TCA	STK17B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000081320		0.294	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK17B	HGNC	protein_coding	OTTHUMT00000256092.2	-	0	33	0	G			197004398	-1	tier1	-	no_errors	ENST00000263955	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	1.000	T	T	197004398	G	T	197004398	4	4	59	1	0	0	0	0	0	1	0	0	15338	1294	45	3	344	3	STK17B	2	197004398	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	9311388	197004398	46194975	82	16790											
ANKRD44	91526	genome.wustl.edu	37	chr2	197986194	197986194	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgtagtcaatcaactcGttaaccacagcatcctgtcc	11	9	6	15	2	2	0	2	0	0	0	5	0	4	0	4	0	3	4	4	0	4	2	rs560770318		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:197986194G>A	ENST00000328737.2	-	8	769	c.693C>T	c.(691-693)aaC>aaT	p.N231N	ANKRD44_ENST00000409919.1_Silent_p.N256N|ANKRD44_ENST00000337207.5_Silent_p.N231N|ANKRD44_ENST00000539527.1_Silent_p.N184N|ANKRD44_ENST00000282272.8_Silent_p.N248N|ANKRD44_ENST00000409153.1_Silent_p.N256N|ANKRD44_ENST00000450567.1_Silent_p.N231N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	256										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAATCAACTCGTTAACCACAG	0.463													G|||	1	0.000199681	0	0	5008	,	,		21796	0		0.001	False		,,,				2504	0																0													202	148	166					2																	197986194		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.693C>T	2.37:g.197986194G>A			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N231	ENST00000328737.2	37	c.693		2																																																																																			ANKRD44	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000065413		0.463	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	-	0	18	0	G	NM_153697		197986194	-1	tier1	-	no_errors	ENST00000328737	ensembl	human	known	74_37	silent	53.57	13	15	SNP	0.039	A	A	197986194	G	A	197986194	2	1	59	1	0	0	0	0	0	0	0	1	672	1136	40	1		1	ANKRD44	2	197986194	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	981796	197986194	45213179	83	16791											
ICA1L	130026	genome.wustl.edu	37	chr2	203693680	203693680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagtatttcttttgcattCttctgactactgactgatta	8	19	5	9	0	3	3	0	3	3	0	4	3	4	3	1	0	2	2	1	0	3	8			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:203693680C>T	ENST00000392237.2	-	3	210	c.53G>A	c.(52-54)aGa>aAa	p.R18K	ICA1L_ENST00000425178.1_Missense_Mutation_p.R18K|ICA1L_ENST00000358299.2_Missense_Mutation_p.R18K|ICA1L_ENST00000418208.1_Missense_Mutation_p.R18K	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	18								p.R18I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTTGCATTCTTCTGACTAC	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											165	148	154					2																	203693680		2203	4300	6503	SO:0001583	missense	0			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.53G>A	2.37:g.203693680C>T	ENSP00000376070:p.Arg18Lys		B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Missense_Mutation	SNP	pfam_Islet_autoAg_Ica1_C,pfam_AH_dom,pfscan_AH_dom	p.R18K	ENST00000392237.2	37	c.53	CCDS2354.1	2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657535	0.47467	.	.	ENSG00000163596	ENST00000392237;ENST00000358299;ENST00000420558;ENST00000425178;ENST00000418208;ENST00000450143;ENST00000435143;ENST00000419460;ENST00000441547;ENST00000412210;ENST00000457524;ENST00000432273;ENST00000416760;ENST00000454326;ENST00000411681;ENST00000421334	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.91	5.91	0.95273	Arfaptin-like (1);	0.000000	0.85682	D	0.000000	T	0.42720	0.1215	N	0.03891	-0.335	0.38318	D	0.943432	B;B	0.09022	0.001;0.002	B;B	0.17722	0.006;0.019	T	0.47249	-0.9132	10	0.02654	T	1	.	11.1129	0.48243	0.0:0.9168:0.0:0.0832	.	18;18	Q96Q33;Q8NDH6	.;ICA1L_HUMAN	K	18	ENSP00000376070:R18K;ENSP00000351047:R18K;ENSP00000400249:R18K;ENSP00000404189:R18K;ENSP00000412158:R18K;ENSP00000410747:R18K;ENSP00000405592:R18K;ENSP00000410135:R18K;ENSP00000404618:R18K;ENSP00000387382:R18K;ENSP00000404707:R18K;ENSP00000397827:R18K;ENSP00000392609:R18K;ENSP00000416726:R18K;ENSP00000409741:R18K	ENSP00000351047:R18K	R	-	2	0	ICA1L	203401925	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.133000	0.42093	2.799000	0.96334	0.650000	0.86243	AGA	ICA1L	-	pfam_AH_dom	ENSG00000163596		0.383	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICA1L	HGNC	protein_coding	OTTHUMT00000256330.1	-	0	46	0	C	NM_138468		203693680	-1	tier1	-	no_errors	ENST00000358299	ensembl	human	known	74_37	missense	30.00	27	12	SNP	1.000	T	T	203693680	C	T	203693680	3	4	59	1	0	0	0	0	1	0	0	0	7505	913	32	3	1457	3	ICA1L	2	203693680	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	5707486	203693680	39505693	84	16792											
C2orf80	389073	genome.wustl.edu	37	chr2	209045468	209045468	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaatcccaggtcacccttaCcttgatggtaccagaatcgg	11	9	8	13	1	1	2	1	1	0	1	3	2	2	2	4	3	2	1	4	3	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:209045468C>T	ENST00000341287.4	-	6	562		c.e6+1		C2orf80_ENST00000451346.1_Splice_Site|C2orf80_ENST00000453017.1_Splice_Site	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80											endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GTCACCCTTACCTTGATGGTA	0.333																																																	0													105	98	100					2																	209045468		1806	4078	5884	SO:0001630	splice_region_variant	0			AC016697, AW136505, BC035737	CCDS42809.1	2q33.3	2013-10-31			ENSG00000188674	ENSG00000188674			34352	protein-coding gene	gene with protein product	"gonad development associated 1"	615536				22080834, 24055526	Standard	NM_001099334		Approved	LOC389073, GONDA1	uc002vcr.3	Q0P641	OTTHUMG00000154751	ENST00000341287.4:c.366+1G>A	2.37:g.209045468C>T			A6NKZ3	Splice_Site	SNP	-	e5+1	ENST00000341287.4	37	c.366+1	CCDS42809.1	2	.	.	.	.	.	.	.	.	.	.	C	12.16	1.853936	0.32791	.	.	ENSG00000188674	ENST00000451342;ENST00000341287;ENST00000451346;ENST00000428015;ENST00000453017;ENST00000423952	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1501	0.54046	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2orf80	208753713	1.000000	0.71417	0.998000	0.56505	0.496000	0.33645	3.303000	0.51858	2.584000	0.87258	0.563000	0.77884	.	C2orf80	-	-	ENSG00000188674		0.333	C2orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf80	HGNC	protein_coding	OTTHUMT00000336931.1	-	0	16	0	C	NM_001099334	Intron	209045468	-1	tier1	-	no_errors	ENST00000341287	ensembl	human	known	74_37	splice_site	40.00	15	10	SNP	0.999	T	T	209045468	C	T	209045468	5	4	59	1	0	0	0	0	0	0	1	0	2204	521	18	3	230	3	C2orf80	2	209045468	Splice_Site	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	5351788	209045468	34153905	85	16793											
ERBB4	2066	genome.wustl.edu	37	chr2	212251633	212251633	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctcatccagctctccTcgtgggctccgttctggggc	2	12	10	17	2	3	0	1	0	2	0	8	0	6	0	5	3	1	3	5	3	0	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:212251633T>C	ENST00000342788.4	-	27	3736	c.3426A>G	c.(3424-3426)cgA>cgG	p.R1142R	ERBB4_ENST00000436443.1_Silent_p.R1126R|ERBB4_ENST00000402597.1_Silent_p.R1132R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1142					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCAGCTCTCCTCGTGGGCTCC	0.532										TSP Lung(8;0.080)																																							0													159	147	151					2																	212251633		2203	4300	6503	SO:0001819	synonymous_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3426A>G	2.37:g.212251633T>C			B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1142	ENST00000342788.4	37	c.3426	CCDS2394.1	2																																																																																			ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000178568		0.532	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	101	0	T	NM_001042599		212251633	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	silent	43.75	63	49	SNP	1.000	C	C	212251633	T	C	212251633	2	2	59	1	0	0	0	0	0	0	0	1	5225	1538	54	4		4	ERBB4	2	212251633	Silent	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	3206165	212251633	30947740	86	16794											
ABCA12	26154	genome.wustl.edu	37	chr2	215802332	215802332	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttgacagtaaatcctcGtccaaacctagaaagaaaaa	19	8	5	9	1	0	3	0	1	0	2	3	3	2	3	3	0	2	1	3	0	8	3	rs199503269		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:215802332G>T	ENST00000272895.7	-	51	7663	c.7444C>A	c.(7444-7446)Cga>Aga	p.R2482R	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.R2164R	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2482	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTAAATCCTCGTCCAAACCTA	0.368																																					Ovarian(66;664 1488 5121 34295)												0			GRCh37	CM073950	ABCA12	M							116	105	109					2																	215802332		2203	4300	6503	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.7444C>A	2.37:g.215802332G>T			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R2482	ENST00000272895.7	37	c.7444	CCDS33372.1	2																																																																																			ABCA12	-	pfscan_ABC_transporter-like	ENSG00000144452		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1		0	16	0	G	NM_173076		215802332	-1			no_errors	ENST00000272895	ensembl	human	known	74_37	silent	7.69	24	2	SNP	1.000	T	T	215802332	G	T	215802332	2	4	59	1	0	0	0	0	0	0	0	1	30	1153	40	2		2	ABCA12	2	215802332	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3550699	215802332	27397041	87	16795											
PTPRN	5798	genome.wustl.edu	37	chr2	220162791	220162791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgggtgaggtgctgtgcGcagtttggggaaggactgca	7	9	19	6	1	0	1	0	1	0	0	0	3	0	3	0	5	3	5	0	5	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:220162791G>A	ENST00000295718.2	-	13	1943	c.1703C>T	c.(1702-1704)gCg>gTg	p.A568V	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.A539V|PTPRN_ENST00000423636.2_Missense_Mutation_p.A478V	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	568					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGTGCTGTGCGCAGTTTGGGG	0.627																																																	0													78	74	76					2																	220162791		2203	4300	6503	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1703C>T	2.37:g.220162791G>A	ENSP00000295718:p.Ala568Val		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A568V	ENST00000295718.2	37	c.1703	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709756	0.30322	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03689	3.88;3.84;3.85	4.58	4.58	0.56647	.	0.172440	0.38436	N	0.001700	T	0.04318	0.0119	L	0.27053	0.805	0.47949	D	0.999558	B;B	0.13594	0.008;0.003	B;B	0.06405	0.002;0.002	T	0.46359	-0.9197	10	0.56958	D	0.05	.	17.2091	0.86926	0.0:0.0:1.0:0.0	.	539;568	Q6NSL1;Q16849	.;PTPRN_HUMAN	V	539;568;539;478	ENSP00000386638:A539V;ENSP00000295718:A568V;ENSP00000444244:A478V	ENSP00000295718:A568V	A	-	2	0	PTPRN	219871035	0.998000	0.40836	0.267000	0.24556	0.004000	0.04260	5.985000	0.70556	2.386000	0.81285	0.655000	0.94253	GCG	PTPRN	-	NULL	ENSG00000054356		0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	-	0	51	0	G			220162791	-1	tier1	-	no_errors	ENST00000295718	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.849	A	A	220162791	G	A	220162791	3	1	59	1	0	0	0	0	1	0	0	0	12852	1087	38	1	1280	1	PTPRN	2	220162791	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4360459	220162791	23036582	88	16796											
FARSB	10056	genome.wustl.edu	37	chr2	223478626	223478626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatggtcttcaggaggccagGaagaagggtagtgcgtgcca	10	8	16	7	1	2	1	1	0	1	1	2	3	2	3	2	5	2	1	2	5	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:223478626G>T	ENST00000281828.6	-	15	1629	c.1366C>A	c.(1366-1368)Cct>Act	p.P456T	FARSB_ENST00000536361.1_Missense_Mutation_p.P357T	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	456					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	AGGAGGCCAGGAAGAAGGGTA	0.423																																																	0													109	101	104					2																	223478626		2203	4300	6503	SO:0001583	missense	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.1366C>A	2.37:g.223478626G>T	ENSP00000281828:p.Pro456Thr		B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Missense_Mutation	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.P456T	ENST00000281828.6	37	c.1366	CCDS2454.1	2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492495	0.84962	.	.	ENSG00000116120	ENST00000281828;ENST00000536361	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.89931	0.6858	H	0.97265	3.97	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.66084	0.941;0.914	D	0.93204	0.6594	9	0.87932	D	0	-16.9766	19.5226	0.95192	0.0:0.0:1.0:0.0	.	456;456	A8K666;Q9NSD9	.;SYFB_HUMAN	T	456;357	.	ENSP00000281828:P456T	P	-	1	0	FARSB	223186870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.426000	0.80270	2.617000	0.88574	0.585000	0.79938	CCT	FARSB	-	tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.423	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	-	0	29	0	G	NM_005687		223478626	-1	tier1	-	no_errors	ENST00000281828	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	223478626	G	T	223478626	3	4	59	1	0	0	0	0	1	0	0	0	5702	1174	41	3	415	3	FARSB	2	223478626	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3315835	223478626	19720747	89	16797											
DNER	92737	genome.wustl.edu	37	chr2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-																															caaatgcagaggtagccatcGctgctgctgctgctgctgct																								rs376000556	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr2:230456533_230456535delGCT	ENST00000341772.4	-	2	480_482	c.346_348delAGC	c.(346-348)agcdel	p.S116del		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	116	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Interaction with NOTCH1. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTAGCCATCgctgctgctgctg	0.532																																																	0																																										SO:0001651	inframe_deletion	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.346_348delAGC	2.37:g.230456542_230456544delGCT	ENSP00000345229:p.Ser116del		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	In_Frame_Del	DEL	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.S116in_frame_del	ENST00000341772.4	37	c.348_346	CCDS33390.1	2																																																																																			DNER	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000187957		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1		0	16	0	GCT	NM_139072		230456535	-1	tier1		no_errors	ENST00000341772	ensembl	human	known	74_37	in_frame_del	12.12	29	4	DEL	0.003:0.004:0.006	-	-	230456535	GCT	-	230456533	7	5	59	1	0	1	0	1	0	0	0	0	4681	1078	38	0	1913	0	DNER	2	230456533	In_Frame_Del	DEL	GCT	TCGA-L5-A4OJ-01A-11D-A27G-09	6977907	230456533	12742840	90	16798											
TIMP4	7079	genome.wustl.edu	37	chr3	12195084	12195084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaccagctgcaggtgccGtcaacatgcttcatacagac	10	8	10	13	2	2	1	2	0	0	1	2	1	2	1	2	2	7	4	2	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:12195084G>T	ENST00000287814.4	-	5	1116	c.606C>A	c.(604-606)gaC>gaA	p.D202E	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	202					central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.D202D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TGCAGGTGCCGTCAACATGCT	0.547																																					Melanoma(199;1446 2144 30617 38794 51714)												1	Substitution - coding silent(1)	kidney(1)											163	144	150					3																	12195084		2203	4300	6503	SO:0001583	missense	0			U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"tissue inhibitor of metalloproteinase 4"			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.606C>A	3.37:g.12195084G>T	ENSP00000287814:p.Asp202Glu		B2R7K6	Missense_Mutation	SNP	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.D202E	ENST00000287814.4	37	c.606	CCDS2608.1	3	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099773	0.56183	.	.	ENSG00000157150	ENST00000287814	D	0.93247	-3.19	4.78	-0.823	0.10815	Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.89643	0.6774	L	0.47078	1.49	0.48087	D	0.999583	P	0.43231	0.801	P	0.45449	0.481	T	0.83279	-0.0039	10	0.20046	T	0.44	.	10.7988	0.46476	0.5571:0.0:0.4429:0.0	.	202	Q99727	TIMP4_HUMAN	E	202	ENSP00000287814:D202E	ENSP00000287814:D202E	D	-	3	2	TIMP4	12170084	0.142000	0.22610	0.937000	0.37676	0.914000	0.54420	-0.398000	0.07259	-0.212000	0.10109	-0.658000	0.03865	GAC	TIMP4	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP	ENSG00000157150		0.547	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP4	HGNC	protein_coding	OTTHUMT00000251978.1		0	25	0	G	NM_003256		12195084	-1			no_errors	ENST00000287814	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.991	T	T	12195084	G	T	12195084	3	4	59	1	0	0	0	0	1	0	0	0	15967	1136	40	2	72	2	TIMP4	3	12195084	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		12195084	185827346	91	16799											
CAND2	23066	genome.wustl.edu	37	chr3	12858855	12858855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcattggcccggtgtgtGgcagccctctcagctgcctg	4	10	12	15	1	2	0	2	0	1	0	3	0	2	0	3	3	3	2	3	3	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:12858855G>A	ENST00000456430.2	+	10	2465	c.2424G>A	c.(2422-2424)gtG>gtA	p.V808V	CAND2_ENST00000295989.5_Silent_p.V715V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	808					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGGTGTGTGGCAGCCCTCT	0.642																																					GBM(43;676 868 1633 6395 37496)												0													51	58	56					3																	12858855		2083	4212	6295	SO:0001819	synonymous_variant	0				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"TBP interacting protein"	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2424G>A	3.37:g.12858855G>A			B9EGM9|E9KL24	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.V808	ENST00000456430.2	37	c.2424	CCDS54554.1	3																																																																																			CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.642	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	-	0	44	0	G	XM_371617		12858855	1	tier1	-	no_errors	ENST00000456430	ensembl	human	known	74_37	silent	30.95	29	13	SNP	1.000	A	A	12858855	G	A	12858855	2	1	59	1	0	0	0	0	0	0	0	1	2623	1335	47	3		3	CAND2	3	12858855	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	663771	12858855	185163575	92	16800											
TMEM43	79188	genome.wustl.edu	37	chr3	14177323	14177323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcactgtgattgcccGgcagcggggtgaccagctag	7	7	15	12	2	1	2	1	2	0	0	1	2	1	2	3	4	3	2	3	4	1	2	rs193922707		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:14177323G>T	ENST00000306077.4	+	10	1051	c.797G>T	c.(796-798)cGg>cTg	p.R266L	RP11-434D12.1_ENST00000608606.1_Silent_p.P11P	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	266					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GTGATTGCCCGGCAGCGGGGT	0.632																																																	0													91	87	88					3																	14177323		2203	4300	6503	SO:0001583	missense	0			BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"arrhythmogenic right ventricular dysplasia 5"	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.797G>T	3.37:g.14177323G>T	ENSP00000303992:p.Arg266Leu		Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Missense_Mutation	SNP	pfam_TMEM43_fam	p.R266L	ENST00000306077.4	37	c.797	CCDS2618.1	3	.	.	.	.	.	.	.	.	.	.	g	13.48	2.251038	0.39797	.	.	ENSG00000170876	ENST00000306077	T	0.38240	1.15	5.69	3.89	0.44902	.	0.188897	0.45867	D	0.000340	T	0.31071	0.0785	N	0.21282	0.65	0.37980	D	0.933566	P;P	0.49447	0.924;0.532	P;B	0.48063	0.565;0.212	T	0.16247	-1.0409	10	0.48119	T	0.1	-11.5406	11.6498	0.51282	0.0671:0.1244:0.8085:0.0	.	196;266	Q8TEP9;Q9BTV4	.;TMM43_HUMAN	L	266	ENSP00000303992:R266L	ENSP00000303992:R266L	R	+	2	0	TMEM43	14152324	1.000000	0.71417	0.999000	0.59377	0.378000	0.30076	3.487000	0.53222	0.760000	0.33108	-0.185000	0.12909	CGG	TMEM43	-	pfam_TMEM43_fam	ENSG00000170876		0.632	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM43	HGNC	protein_coding	OTTHUMT00000252030.2		0	16	0	G	NM_024334		14177323	1			no_errors	ENST00000306077	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	14177323	G	T	14177323	3	4	59	1	0	0	0	0	1	0	0	0	16214	1116	39	2	835	2	TMEM43	3	14177323	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1318468	14177323	183845107	93	16801											
HACL1	26061	genome.wustl.edu	37	chr3	15609465	15609465	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacggcagctgcaatagcaAatcccaaaccaactcccatt	14	6	5	16	1	0	0	0	0	0	0	2	0	2	0	4	1	5	4	4	1	5	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:15609465A>C	ENST00000321169.5	-	14	1662	c.1295T>G	c.(1294-1296)tTt>tGt	p.F432C	HACL1_ENST00000435217.2_Missense_Mutation_p.F191C|HACL1_ENST00000451445.2_Missense_Mutation_p.F350C|HACL1_ENST00000457447.2_Missense_Mutation_p.F372C|HACL1_ENST00000456194.2_Missense_Mutation_p.F405C	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	432	Thiamine pyrophosphate binding.				cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TGCAATAGCAAATCCCAAACC	0.483																																																	0													141	144	143					3																	15609465		2203	4300	6503	SO:0001583	missense	0			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"2-hydroxyphytanoyl-CoA lyase"	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1295T>G	3.37:g.15609465A>C	ENSP00000323811:p.Phe432Cys		B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth	p.F432C	ENST00000321169.5	37	c.1295	CCDS2627.1	3	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138399	0.77775	.	.	ENSG00000131373	ENST00000321169;ENST00000435217;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.5	5.5	0.81552	Thiamine pyrophosphate enzyme, C-terminal TPP-binding (1);	0.106929	0.64402	D	0.000001	T	0.71160	0.3307	M	0.90595	3.13	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.994;0.998;0.999;0.999	T	0.78420	-0.2211	10	0.87932	D	0	.	15.6106	0.76713	1.0:0.0:0.0:0.0	.	350;372;405;191;432	B4DXI5;E9PEN4;B4DWI1;B3KPX4;Q9UJ83	.;.;.;.;HACL1_HUMAN	C	432;191;350;405;372	ENSP00000323811:F432C;ENSP00000395278:F191C;ENSP00000403656:F350C;ENSP00000390699:F405C;ENSP00000404883:F372C	ENSP00000323811:F432C	F	-	2	0	HACL1	15584469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.031000	0.76491	2.093000	0.63338	0.459000	0.35465	TTT	HACL1	-	pfam_TPP_enzyme-bd_C	ENSG00000131373		0.483	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HACL1	HGNC	protein_coding	OTTHUMT00000252104.3	-	0	30	0	A	NM_012260		15609465	-1	tier1	-	no_errors	ENST00000321169	ensembl	human	known	74_37	missense	41.94	18	13	SNP	1.000	C	C	15609465	A	C	15609465	3	2	59	1	0	0	0	0	1	0	0	0	6968	14	1	4	457	4	HACL1	3	15609465	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	1432142	15609465	182412965	94	16802											
GALNTL2	117248	genome.wustl.edu	37	chr3	16237412	16237412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaaggagatcatcctcGtggacgacctcagccagcaa	11	7	10	13	2	2	2	2	1	0	1	5	5	4	3	4	2	2	1	4	2	2	0	rs367893487		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:16237412G>T	ENST00000339732.5	+	2	1188	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L	GALNT15_ENST00000437509.1_Missense_Mutation_p.V229L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	229	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATCATCCTCGTGGACGACCT	0.582																																																	0													66	51	56					3																	16237412		2203	4300	6503	SO:0001583	missense	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.685G>T	3.37:g.16237412G>T	ENSP00000344260:p.Val229Leu		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V229L	ENST00000339732.5	37	c.685	CCDS33711.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.190304	0.94923	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.69685	-0.42;-0.42	4.88	4.88	0.63580	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	D	0.85208	0.5644	M	0.92649	3.33	0.58432	D	0.999999	D	0.67145	0.996	D	0.64042	0.921	D	0.89518	0.3776	10	0.87932	D	0	.	18.0575	0.89367	0.0:0.0:1.0:0.0	.	229	Q8N3T1	GLTL2_HUMAN	L	229	ENSP00000344260:V229L;ENSP00000395873:V229L	ENSP00000344260:V229L	V	+	1	0	GALNTL2	16212416	1.000000	0.71417	0.948000	0.38648	0.891000	0.51852	7.948000	0.87774	2.256000	0.74724	0.555000	0.69702	GTG	GALNT15	-	pfam_Glyco_trans_2	ENSG00000131386		0.582	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2		0	45	0	G	NM_054110		16237412	1			no_errors	ENST00000339732	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	16237412	G	T	16237412	3	4	59	1	0	0	0	0	1	0	0	0	6247	1145	40	2	691	2	GALNTL2	3	16237412	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	627947	16237412	181785018	95	16803											
PDCD6IP	10015	genome.wustl.edu	37	chr3	33879704	33879704	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaattttagatctgtttGagaagatggttcccgtgtca	9	16	9	7	1	2	3	1	1	1	3	4	4	4	3	2	1	0	2	2	1	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:33879704G>T	ENST00000307296.3	+	9	1443	c.1066G>T	c.(1066-1068)Gag>Tag	p.E356*	PDCD6IP_ENST00000457054.2_Nonsense_Mutation_p.E361*			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	356	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AGATCTGTTTGAGAAGATGGT	0.363																																																	0													61	61	61					3																	33879704		2203	4300	6503	SO:0001587	stop_gained	0			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"ALG-2 interacting protein X"	608074	"programmed cell death 6-interacting protein"			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.1066G>T	3.37:g.33879704G>T	ENSP00000307387:p.Glu356*		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Nonsense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.E361*	ENST00000307296.3	37	c.1081	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.388758	0.97529	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	.	.	.	4.92	4.92	0.64577	.	0.048947	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-19.3101	18.1209	0.89571	0.0:0.0:1.0:0.0	.	.	.	.	X	356;361	.	ENSP00000307387:E356X	E	+	1	0	PDCD6IP	33854708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.281000	0.76405	0.585000	0.79938	GAG	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000170248		0.363	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	-	0	71	0	G			33879704	1	tier1	-	no_errors	ENST00000457054	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	1.000	T	T	33879704	G	T	33879704	4	4	59	1	0	0	0	0	0	1	0	0	11663	1291	45	3	1115	3	PDCD6IP	3	33879704	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	17642292	33879704	164142726	96	16804											
WDR48	57599	genome.wustl.edu	37	chr3	39130733	39130733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttaggctgctctgccGagattccgggggtgagactg	6	12	15	8	2	1	2	0	1	1	2	2	4	2	2	2	3	2	3	2	3	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:39130733G>T	ENST00000302313.5	+	16	1620	c.1592G>T	c.(1591-1593)cGa>cTa	p.R531L	WDR48_ENST00000544962.1_Missense_Mutation_p.R256L|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R449L	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	531					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTGCTCTGCCGAGATTCCGGG	0.443																																																	0													197	188	191					3																	39130733		2203	4300	6503	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1592G>T	3.37:g.39130733G>T	ENSP00000307491:p.Arg531Leu		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R531L	ENST00000302313.5	37	c.1592	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033715	0.93575	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89552	1.06;-2.53;0.78	5.71	5.71	0.89125	.	0.060161	0.64402	D	0.000004	D	0.88295	0.6398	L	0.49350	1.555	0.80722	D	1	B;P;P;P	0.50369	0.275;0.865;0.865;0.934	B;B;B;P	0.44811	0.061;0.331;0.331;0.461	D	0.86468	0.1783	10	0.30078	T	0.28	-10.2043	19.8506	0.96738	0.0:0.0:1.0:0.0	.	256;449;522;531	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	L	531;256;449	ENSP00000307491:R531L;ENSP00000445187:R256L;ENSP00000379557:R449L	ENSP00000307491:R531L	R	+	2	0	WDR48	39105737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.973000	0.88032	2.686000	0.91538	0.655000	0.94253	CGA	WDR48	-	pfam_DUF3337	ENSG00000114742		0.443	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1		0	54	0	G	NM_020839		39130733	1			no_errors	ENST00000302313	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	39130733	G	T	39130733	3	4	59	1	0	0	0	0	1	0	0	0	17350	1058	37	2	1654	2	WDR48	3	39130733	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5251029	39130733	158891697	97	16805											
CTNNB1	1499	genome.wustl.edu	37	chr3	41266610	41266610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagatgctgaaacatgcagTtgtaaacttgattaactatc	15	12	7	7	0	0	3	0	2	0	1	1	3	0	3	0	0	5	4	0	0	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:41266610T>C	ENST00000349496.5	+	4	687	c.407T>C	c.(406-408)gTt>gCt	p.V136A	CTNNB1_ENST00000453024.1_Missense_Mutation_p.V129A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.V136A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.V136A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.V136A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	136					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_Q143del(7)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.I35_K170del(1)|p.E15_I140>V(1)|p.A20_N141del(1)|p.D11_Y142>H(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		AAACATGCAGTTGTAAACTTG	0.448		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	23	Deletion - In frame(16)|Complex - deletion inframe(7)	liver(22)|skin(1)											147	128	134					3																	41266610		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.407T>C	3.37:g.41266610T>C	ENSP00000344456:p.Val136Ala		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.V136A	ENST00000349496.5	37	c.407	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766195	0.69878	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T;T	0.66638	-0.22;0.96;-0.22;-0.22;-0.22;-0.22	5.4	5.4	0.78164	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70919	0.3279	L	0.58810	1.83	0.80722	D	1	B;B	0.32425	0.171;0.371	B;P	0.44447	0.202;0.45	T	0.67086	-0.5759	10	0.24483	T	0.36	-2.7182	15.7251	0.77751	0.0:0.0:0.0:1.0	.	64;136	B4DSW9;P35222	.;CTNB1_HUMAN	A	136;136;136;136;129;136	ENSP00000385604:V136A;ENSP00000412219:V136A;ENSP00000379486:V136A;ENSP00000344456:V136A;ENSP00000411226:V129A;ENSP00000379488:V136A	ENSP00000344456:V136A	V	+	2	0	CTNNB1	41241614	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.175000	0.68902	0.533000	0.62120	GTT	CTNNB1	-	superfamily_ARM-type_fold	ENSG00000168036		0.448	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	-	0	25	0	T	NM_001098210		41266610	1	tier1	-	no_errors	ENST00000349496	ensembl	human	known	74_37	missense	72.22	5	13	SNP	1.000	C	C	41266610	T	C	41266610	3	2	59	1	0	0	0	0	1	0	0	0	4025	1725	60	4	417	4	CTNNB1	3	41266610	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	2135877	41266610	156755820	98	16806											
QARS	5859	genome.wustl.edu	37	chr3	49141103	49141103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggtaacgttccaccaGgagctggggccggtgcctgt	8	8	15	10	2	0	0	0	0	0	0	1	2	1	1	4	5	3	3	4	5	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:49141103G>T	ENST00000306125.6	-	4	749	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000420147.2_Missense_Mutation_p.L156M|QARS_ENST00000414533.1_Missense_Mutation_p.L127M			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	138					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGTTCCACCAGGAGCTGGGGC	0.537																																																	0													29	33	32					3																	49141103		2203	4300	6503	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.412C>A	3.37:g.49141103G>T	ENSP00000307567:p.Leu138Met		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth	p.L138M	ENST00000306125.6	37	c.412	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465393	0.63513	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.24538	1.86;1.85	5.48	-2.7	0.06004	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.082034	0.50627	D	0.000114	T	0.43678	0.1258	M	0.86864	2.845	0.35407	D	0.792111	P;P;P	0.50369	0.934;0.832;0.832	P;P;P	0.55615	0.78;0.669;0.669	T	0.54892	-0.8225	10	0.66056	D	0.02	-10.0831	11.2646	0.49104	0.4984:0.0:0.5016:0.0	.	156;127;138	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	M	138;127;156;180;138	ENSP00000307567:L138M;ENSP00000390015:L127M	ENSP00000307567:L138M	L	-	1	2	QARS	49116107	0.990000	0.36364	0.036000	0.18154	0.858000	0.48976	0.446000	0.21694	-1.035000	0.03291	-0.345000	0.07892	CTG	QARS	-	pfam_Gln-tRNA-synth_Ib_RNA-bd_N	ENSG00000172053		0.537	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	-	0	24	0	G	NM_005051		49141103	-1	tier1	-	no_errors	ENST00000306125	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.533	T	T	49141103	G	T	49141103	3	4	59	1	0	0	0	0	1	0	0	0	12916	991	35	3	1999	3	QARS	3	49141103	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7874493	49141103	148881327	99	16807											
KIAA1524	57650	genome.wustl.edu	37	chr3	108287026	108287026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacttcaatggccttggCaatcctttcacatttttttc	10	16	4	11	0	2	0	2	0	0	0	4	0	3	0	2	2	1	1	2	2	4	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:108287026C>A	ENST00000295746.8	-	10	1325	c.1249G>T	c.(1249-1251)Gcc>Tcc	p.A417S	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.A258S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	417					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGGCCTTGGCAATCCTTTCA	0.343																																																	0													150	149	149					3																	108287026		2203	4300	6503	SO:0001583	missense	0			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1249G>T	3.37:g.108287026C>A	ENSP00000295746:p.Ala417Ser		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A417S	ENST00000295746.8	37	c.1249	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	C	2.519	-0.311172	0.05458	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.09445	2.98;3.15	5.91	1.15	0.20763	Armadillo-type fold (1);	0.536007	0.21830	N	0.068483	T	0.07143	0.0181	L	0.29908	0.895	0.28470	N	0.915445	B	0.13594	0.008	B	0.14023	0.01	T	0.39231	-0.9624	10	0.15499	T	0.54	0.0011	9.9607	0.41695	0.0:0.6064:0.0:0.3936	.	417	Q8TCG1	CIP2A_HUMAN	S	258;417	ENSP00000419487:A258S;ENSP00000295746:A417S	ENSP00000295746:A417S	A	-	1	0	KIAA1524	109769716	1.000000	0.71417	0.988000	0.46212	0.662000	0.39071	1.487000	0.35540	-0.066000	0.12998	-0.136000	0.14681	GCC	KIAA1524	-	superfamily_ARM-type_fold	ENSG00000163507		0.343	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	-	0	36	0	C	NM_020890		108287026	-1	tier1	-	no_errors	ENST00000295746	ensembl	human	known	74_37	missense	25.71	25	9	SNP	0.975	A	A	108287026	C	A	108287026	3	1	59	1	0	0	0	0	1	0	0	0	8266	710	25	3	1516	3	KIAA1524	3	108287026	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	59145923	108287026	89735404	100	16808											
KIAA2018	205717	genome.wustl.edu	37	chr3	113377481	113377482	+	Frame_Shift_Ins	INS	-	-	T																															aaagagatgatttctgagggINStttttttttttagcaagatc																								rs78597857		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:113377481_113377482insT	ENST00000478658.1	-	5	3064_3065	c.3047_3048insA	c.(3046-3048)aacfs	p.N1016fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.N1016fs			Q68DE3	K2018_HUMAN	KIAA2018	1016						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.N1016fs*8(1)|p.N1016fs*9(1)|p.N1016fs*23(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATTTCTGAGGGTTTTTTTTTTT	0.366																																																	3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	ovary(3)																																								SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3048dupA	3.37:g.113377492_113377492dupT	ENSP00000420721:p.Asn1016fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N1016fs	ENST00000478658.1	37	c.3048_3047	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.366	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	18	0	-	NM_001009899		113377482	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_ins	13.64	19	3	INS	0.174:0.827	T	T	113377482	-	T	113377481	7	5	59	1	0	1	1	0	0	0	0	0	8295	1252	44	0	3693	0	KIAA2018	3	113377481	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	5090455	113377481	84644949	101	16809											
COL6A6	131873	genome.wustl.edu	37	chr3	130394219	130394219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaaggatgatagaaaGtgctcccaaacaacatgatt	17	8	10	6	0	0	3	0	2	0	1	1	6	1	5	1	2	3	1	1	2	6	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:130394219G>T	ENST00000358511.6	+	36	6801	c.6770G>T	c.(6769-6771)aGt>aTt	p.S2257I	COL6A6_ENST00000453409.2_Missense_Mutation_p.S2257I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2257	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGATAGAAAGTGCTCCCAAA	0.363																																																	0													47	44	45					3																	130394219		1905	4104	6009	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6770G>T	3.37:g.130394219G>T	ENSP00000351310:p.Ser2257Ile		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S2257I	ENST00000358511.6	37	c.6770	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	9.890	1.204011	0.22205	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89270	-2.47;-2.49	4.97	1.54	0.23209	.	.	.	.	.	T	0.75228	0.3821	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.65207	-0.6224	9	0.66056	D	0.02	.	5.3633	0.16099	0.0:0.4589:0.4062:0.1349	.	2257;2257	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	I	2257	ENSP00000351310:S2257I;ENSP00000399236:S2257I	ENSP00000351310:S2257I	S	+	2	0	COL6A6	131876909	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.415000	0.21181	0.577000	0.29470	-0.540000	0.04249	AGT	COL6A6	-	NULL	ENSG00000206384		0.363	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	21	0	G	NM_001102608		130394219	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.000	T	T	130394219	G	T	130394219	3	4	59	1	0	0	0	0	1	0	0	0	3710	1029	36	3	6912	3	COL6A6	3	130394219	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	17016738	130394219	67628211	102	16810											
DNAJC13	23317	genome.wustl.edu	37	chr3	132175410	132175410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacagtggagtcctacatGcagtaacacaagatgtaagc	15	8	9	9	0	0	1	0	0	0	1	1	2	1	2	1	1	5	3	1	1	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:132175410G>T	ENST00000260818.6	+	11	1413	c.1165G>T	c.(1165-1167)Gca>Tca	p.A389S	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	389					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGTCCTACATGCAGTAACACA	0.338																																																	0													135	136	135					3																	132175410		2203	4300	6503	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.1165G>T	3.37:g.132175410G>T	ENSP00000260818:p.Ala389Ser		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.A389S	ENST00000260818.6	37	c.1165	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914428	0.33815	.	.	ENSG00000138246	ENST00000260818	T	0.39787	1.06	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.39898	1.24	0.80722	D	1	B;P;D	0.58970	0.342;0.946;0.984	B;P;D	0.68192	0.114;0.619;0.956	T	0.33317	-0.9873	10	0.08381	T	0.77	.	20.032	0.97543	0.0:0.0:1.0:0.0	.	389;56;389	A7E2Y5;Q8N7A5;O75165	.;.;DJC13_HUMAN	S	389	ENSP00000260818:A389S	ENSP00000260818:A389S	A	+	1	0	DNAJC13	133658100	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.345000	0.97053	2.743000	0.94032	0.655000	0.94253	GCA	DNAJC13	-	NULL	ENSG00000138246		0.338	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0	28	0	G	NM_015268		132175410	1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	132175410	G	T	132175410	3	4	59	1	0	0	0	0	1	0	0	0	4646	1319	46	3	1203	3	DNAJC13	3	132175410	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1781191	132175410	65847020	103	16811											
CPB1	1360	genome.wustl.edu	37	chr3	148562486	148562486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgattttggagaaagactcGctccacccatactggatcta	11	10	8	12	2	1	2	0	0	1	2	3	5	2	3	3	2	1	1	3	2	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:148562486G>T	ENST00000491148.1	+	9	1044	c.710G>T	c.(709-711)cGc>cTc	p.R237L	CPB1_ENST00000282957.4_Missense_Mutation_p.R237L			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	237						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R237H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGAAAGACTCGCTCCACCCAT	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											115	114	114					3																	148562486		2203	4300	6503	SO:0001583	missense	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.710G>T	3.37:g.148562486G>T	ENSP00000417222:p.Arg237Leu		O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.R237L	ENST00000491148.1	37	c.710	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.181085	0.94846	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.25085	1.82;1.82;1.82	5.78	5.78	0.91487	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70407	-0.4880	10	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	237	P15086	CBPB1_HUMAN	L	237;237;203	ENSP00000417222:R237L;ENSP00000282957:R237L;ENSP00000419427:R203L	ENSP00000282957:R237L	R	+	2	0	CPB1	150045176	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.476000	0.97823	2.749000	0.94314	0.655000	0.94253	CGC	CPB1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000153002		0.433	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1		0	40	0	G	NM_001871		148562486	1			no_errors	ENST00000282957	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	148562486	G	T	148562486	3	4	59	1	0	0	0	0	1	0	0	0	3803	1087	38	2	740	2	CPB1	3	148562486	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	16387076	148562486	49459944	104	16812											
P2RY13	53829	genome.wustl.edu	37	chr3	151046141	151046142	+	Frame_Shift_Ins	INS	-	-	T																															tttctataagaatcatatacINStttttttgcaataaccacat																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr3:151046141_151046142insT	ENST00000325602.5	-	2	721_722	c.702_703insA	c.(700-705)aaagtafs	p.V235fs	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	235					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GAATCATATACTTTTTTTGCAA	0.337																																																	0																																										SO:0001589	frameshift_variant	0			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	4537	protein-coding gene	gene with protein product		606380	"G protein-coupled receptor 86"	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.703dupA	3.37:g.151046148_151046148dupT	ENSP00000320376:p.Val235fs		B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.V234fs	ENST00000325602.5	37	c.703_702	CCDS3158.2	3																																																																																			P2RY13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181631		0.337	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1		0	17	0	-	NM_023914		151046142	-1	tier1		no_errors	ENST00000325602	ensembl	human	known	74_37	frame_shift_ins	17.65	14	3	INS	1.000:0.880	T	T	151046142	-	T	151046141	7	5	59	1	0	1	1	0	0	0	0	0	11389	565	20	0	365	0	P2RY13	3	151046141	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	2483655	151046141	46976289	105	16813											
ZNF732	654254	genome.wustl.edu	37	chr4	265627	265627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggacctactaaaggctttgCcacattcttcacatgtgtag	11	12	8	10	0	2	0	1	0	1	0	2	1	2	1	2	2	2	2	2	2	4	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:265627C>A	ENST00000419098.1	-	4	1029	c.1019G>T	c.(1018-1020)gGc>gTc	p.G340V		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						AAAGGCTTTGCCACATTCTTC	0.393																																																	0													49	46	47					4																	265627		692	1591	2283	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1019G>T	4.37:g.265627C>A	ENSP00000415774:p.Gly340Val			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G340V	ENST00000419098.1	37	c.1019	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788620	0.31685	.	.	ENSG00000186777	ENST00000419098	T	0.07444	3.19	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37404	0.1002	H	0.97214	3.96	0.51233	D	0.999911	D	0.89917	1.0	D	0.97110	1.0	T	0.34054	-0.9844	9	0.87932	D	0	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	340	B4DXR9	ZN732_HUMAN	V	340	ENSP00000415774:G340V	ENSP00000415774:G340V	G	-	2	0	ZNF732	255627	0.005000	0.15991	0.703000	0.30354	0.674000	0.39518	0.216000	0.17585	0.399000	0.25367	0.400000	0.26472	GGC	ZNF732	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.393	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	-	0	21	0	C	NM_001137608		265627	-1	tier1	-	no_errors	ENST00000419098	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.940	A	A	265627	C	A	265627	3	1	59	1	0	0	0	0	1	0	0	0	18171	739	26	3	742	3	ZNF732	4	265627	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09		265627	190888649	106	16814											
RGS12	6002	genome.wustl.edu	37	chr4	3319606	3319606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggtccagcatcaactgcgGcacactgccccctcctatga	8	8	8	17	1	1	1	1	1	0	0	3	1	3	1	4	2	4	2	4	2	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:3319606G>A	ENST00000344733.5	+	2	2613	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D	RGS12_ENST00000382788.3_Missense_Mutation_p.G570D|RGS12_ENST00000336727.3_Missense_Mutation_p.G570D|RGS12_ENST00000543385.1_Missense_Mutation_p.G570D	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	570					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAACTGCGGCACACTGCCC	0.652																																																	0													58	68	64					4																	3319606		2203	4300	6503	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1709G>A	4.37:g.3319606G>A	ENSP00000339381:p.Gly570Asp		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G570D	ENST00000344733.5	37	c.1709	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203403	0.58234	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.34472	1.36;1.55;1.55;1.55	4.8	3.92	0.45320	.	0.109028	0.64402	D	0.000006	T	0.44222	0.1283	L	0.59436	1.845	0.80722	D	1	P;D;D	0.59357	0.835;0.975;0.985	B;B;P	0.50896	0.443;0.357;0.653	T	0.40440	-0.9563	10	0.51188	T	0.08	-38.0709	13.0196	0.58779	0.0:0.0:0.8374:0.1626	.	570;570;570	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	D	570	ENSP00000440566:G570D;ENSP00000339381:G570D;ENSP00000338509:G570D;ENSP00000372238:G570D	ENSP00000338509:G570D	G	+	2	0	RGS12	3289404	1.000000	0.71417	0.950000	0.38849	0.692000	0.40212	7.151000	0.77411	0.946000	0.37632	0.491000	0.48974	GGC	RGS12	-	NULL	ENSG00000159788		0.652	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0	34	0	G	NM_002926		3319606	1	tier1	-	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	3319606	G	A	3319606	3	1	59	1	0	0	0	0	1	0	0	0	13340	1203	42	3	1711	3	RGS12	4	3319606	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3053979	3319606	187834670	107	16815											
CRMP1	1400	genome.wustl.edu	37	chr4	5830297	5830297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcccatgcccttgttgacGttgatgtttccgtcttcaaa	6	14	9	12	3	2	2	1	2	1	0	3	2	3	2	3	1	1	3	3	1	1	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:5830297G>T	ENST00000397890.2	-	12	1594	c.1380C>A	c.(1378-1380)aaC>aaA	p.N460K	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.N458K|EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.N574K	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	460					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.N574N(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCTTGTTGACGTTGATGTTTC	0.567																																																	1	Substitution - coding silent(1)	large_intestine(1)											165	113	131					4																	5830297		2203	4300	6503	SO:0001583	missense	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1380C>A	4.37:g.5830297G>T	ENSP00000380987:p.Asn460Lys		A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.N574K	ENST00000397890.2	37	c.1722	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	g	2.587	-0.296093	0.05532	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	T;T;T	0.72835	-0.69;-0.69;-0.69	4.33	-5.32	0.02722	Metal-dependent hydrolase, composite domain (1);	0.418879	0.28057	N	0.016764	T	0.34366	0.0895	N	0.05031	-0.125	0.09310	N	0.999999	B;B;B;B	0.31174	0.001;0.004;0.004;0.311	B;B;B;B	0.30401	0.008;0.002;0.005;0.115	T	0.49283	-0.8956	10	0.11182	T	0.66	-8.262	3.922	0.09248	0.4986:0.1025:0.2954:0.1036	.	574;458;460;397	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	K	574;460;460;458	ENSP00000321606:N574K;ENSP00000380987:N460K;ENSP00000425742:N458K	ENSP00000321606:N574K	N	-	3	2	CRMP1	5881198	0.004000	0.15560	0.000000	0.03702	0.039000	0.13416	-1.133000	0.03232	-1.230000	0.02561	-0.215000	0.12644	AAC	CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.567	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1		0	50	0	G	NM_001313		5830297	-1			no_errors	ENST00000324989	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.002	T	T	5830297	G	T	5830297	3	4	59	1	0	0	0	0	1	0	0	0	3897	1136	40	2	350	2	CRMP1	4	5830297	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2510691	5830297	185323979	108	16816											
GABRA2	2555	genome.wustl.edu	37	chr4	46252548	46252548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaactggatcttttgaaAgattcggggcataattggca	13	11	12	5	1	1	3	0	1	1	2	2	5	1	4	0	4	1	2	0	4	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:46252548A>G	ENST00000510861.1	-	10	1306	c.1133T>C	c.(1132-1134)cTt>cCt	p.L378P	GABRA2_ENST00000507069.1_Missense_Mutation_p.L438P|GABRA2_ENST00000514090.1_Missense_Mutation_p.L378P|GABRA2_ENST00000540012.1_Missense_Mutation_p.L383P|GABRA2_ENST00000381620.4_Missense_Mutation_p.L378P|GABRA2_ENST00000356504.1_Missense_Mutation_p.L378P			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	378					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCTTTTGAAAGATTCGGGGC	0.408																																																	0													136	136	136					4																	46252548		2203	4299	6502	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1133T>C	4.37:g.46252548A>G	ENSP00000421828:p.Leu378Pro		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L383P	ENST00000510861.1	37	c.1148	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	A	13.31	2.200280	0.38905	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.85955	-1.86;-1.86;-1.86;-1.86;-2.05;-2.05	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.047553	0.85682	D	0.000000	D	0.85796	0.5780	N	0.19112	0.55	0.40882	D	0.984	D;B	0.67145	0.996;0.0	D;B	0.66196	0.942;0.002	D	0.85879	0.1421	10	0.33940	T	0.23	.	15.6192	0.76793	1.0:0.0:0.0:0.0	.	383;378	B7Z1H8;P47869	.;GBRA2_HUMAN	P	378;378;378;378;383;438	ENSP00000421828:L378P;ENSP00000421300:L378P;ENSP00000371033:L378P;ENSP00000348897:L378P;ENSP00000444409:L383P;ENSP00000427603:L438P	ENSP00000348897:L378P	L	-	2	0	GABRA2	45947305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.383000	0.79741	2.280000	0.76307	0.533000	0.62120	CTT	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel	ENSG00000151834		0.408	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0	31	0	A			46252548	-1	tier1	-	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	G	G	46252548	A	G	46252548	3	3	59	1	0	0	0	0	1	0	0	0	6185	72	3	4	226	4	GABRA2	4	46252548	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	40422251	46252548	144901728	109	16817											
UGT2B11	10720	genome.wustl.edu	37	chr4	70080365	70080365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcggcccacaccagcaCttttccacaactcccagagc	9	8	6	18	1	1	1	0	0	1	1	3	1	3	1	4	1	4	1	4	1	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:70080365C>A	ENST00000446444.1	-	1	84	c.76G>T	c.(76-78)Gtg>Ttg	p.V26L	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	26					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CACACCAGCACTTTTCCACAA	0.448																																																	0													202	205	204					4																	70080365		2203	4300	6503	SO:0001583	missense	0			AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"UDP glucuronosyltransferases"	12545	protein-coding gene	gene with protein product		603064	"UDP glycosyltransferase 2 family, polypeptide B11"			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.76G>T	4.37:g.70080365C>A	ENSP00000387683:p.Val26Leu		Q3KNV9	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V26L	ENST00000446444.1	37	c.76	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	3.885	-0.025160	0.07589	.	.	ENSG00000213759	ENST00000446444	T	0.60424	0.19	1.96	1.05	0.20165	.	0.109182	0.38492	U	0.001680	T	0.47563	0.1452	M	0.64170	1.965	0.21220	N	0.999756	B	0.27229	0.172	B	0.33339	0.162	T	0.21280	-1.0250	10	0.25106	T	0.35	.	3.4761	0.07585	0.0:0.592:0.0:0.408	.	26	O75310	UDB11_HUMAN	L	26	ENSP00000387683:V26L	ENSP00000387683:V26L	V	-	1	0	UGT2B11	70114954	0.408000	0.25360	0.426000	0.26672	0.028000	0.11728	0.777000	0.26718	1.087000	0.41251	0.184000	0.17185	GTG	UGT2B11	-	pfam_UDP_glucos_trans	ENSG00000213759		0.448	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	HGNC	protein_coding	OTTHUMT00000251551.2	-	0	113	0	C	NM_001073		70080365	-1	tier1	-	no_errors	ENST00000446444	ensembl	human	known	74_37	missense	34.58	70	37	SNP	0.895	A	A	70080365	C	A	70080365	3	1	59	1	0	0	0	0	1	0	0	0	17006	565	20	3	1537	3	UGT2B11	4	70080365	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	23827817	70080365	121073911	110	16818											
TMEM150C	441027	genome.wustl.edu	37	chr4	83406769	83406769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctcatagcggtaatgccgGaactccacggcaaaggtgcc	11	7	11	12	3	1	0	1	0	1	0	3	1	2	1	3	4	4	2	3	4	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:83406769G>T	ENST00000515780.2	-	8	849	c.645C>A	c.(643-645)ttC>ttA	p.F215L	TMEM150C_ENST00000449862.2_Missense_Mutation_p.F215L			B9EJG8	T150C_HUMAN	transmembrane protein 150C	215						integral component of membrane (GO:0016021)				ovary(1)	1						GGTAATGCCGGAACTCCACGG	0.502																																																	0													48	46	47					4																	83406769		1938	4153	6091	SO:0001583	missense	0			BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.645C>A	4.37:g.83406769G>T	ENSP00000420919:p.Phe215Leu		B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	pfam_Frag1/DRAM/Sfk1	p.F215L	ENST00000515780.2	37	c.645	CCDS47087.1	4	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212308	0.79240	.	.	ENSG00000249242	ENST00000449862;ENST00000515780	T;T	0.56776	0.44;0.44	5.28	4.42	0.53409	.	.	.	.	.	T	0.67543	0.2904	M	0.63843	1.955	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.66874	-0.5813	9	0.41790	T	0.15	-8.7143	14.2683	0.66135	0.0733:0.0:0.9267:0.0	.	215	B9EJG8	T150C_HUMAN	L	215	ENSP00000403438:F215L;ENSP00000420919:F215L	ENSP00000403438:F215L	F	-	3	2	TMEM150C	83625793	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.882000	0.56160	2.446000	0.82766	0.462000	0.41574	TTC	TMEM150C	-	pfam_Frag1/DRAM/Sfk1	ENSG00000249242		0.502	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM150C	HGNC	protein_coding	OTTHUMT00000363685.2	-	0	39	0	G	NM_001080506		83406769	-1	tier1	-	no_errors	ENST00000449862	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	83406769	G	T	83406769	3	4	59	1	0	0	0	0	1	0	0	0	16116	1165	41	3	108	3	TMEM150C	4	83406769	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	13326404	83406769	107747507	111	16819											
WDFY3	23001	genome.wustl.edu	37	chr4	85731152	85731152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctctaaaagtctttGaaatggctgtgtatttgagg	10	16	9	6	0	3	2	0	2	3	0	4	2	4	2	1	2	0	2	1	2	4	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:85731152G>T	ENST00000295888.4	-	14	2640	c.2233C>A	c.(2233-2235)Caa>Aaa	p.Q745K	WDFY3_ENST00000322366.6_Missense_Mutation_p.Q745K|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	745					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAAAGTCTTTGAAATGGCTGT	0.398																																																	0													153	146	148					4																	85731152		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.2233C>A	4.37:g.85731152G>T	ENSP00000295888:p.Gln745Lys		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q745K	ENST00000295888.4	37	c.2233	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679344	0.47886	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.62941	-0.01;-0.01	6.07	5.22	0.72569	.	0.103912	0.64402	D	0.000002	T	0.51702	0.1690	L	0.40543	1.245	0.80722	D	1	B;B	0.25007	0.116;0.033	B;B	0.22386	0.039;0.009	T	0.49634	-0.8919	10	0.07482	T	0.82	.	17.2219	0.86960	0.0:0.1259:0.8741:0.0	.	745;745	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	K	745	ENSP00000318466:Q745K;ENSP00000295888:Q745K	ENSP00000295888:Q745K	Q	-	1	0	WDFY3	85950176	1.000000	0.71417	0.995000	0.50966	0.552000	0.35366	7.477000	0.81069	1.537000	0.49254	0.655000	0.94253	CAA	WDFY3	-	superfamily_ARM-type_fold	ENSG00000163625		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	58	0	G	NM_014991		85731152	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	85731152	G	T	85731152	3	4	59	1	0	0	0	0	1	0	0	0	17319	1299	45	3	8610	3	WDFY3	4	85731152	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2324383	85731152	105423124	112	16820											
SEC24D	9871	genome.wustl.edu	37	chr4	119673227	119673227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagtctgcaaacatgtctGgaatctggtccaacaaacta	14	10	8	9	0	3	1	0	0	3	1	4	2	4	2	1	2	4	1	1	2	6	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:119673227G>T	ENST00000280551.6	-	13	1869	c.1631C>A	c.(1630-1632)cCa>cAa	p.P544Q	SEC24D_ENST00000379735.5_Missense_Mutation_p.P545Q|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Missense_Mutation_p.P100Q|SEC24D_ENST00000429811.2_Missense_Mutation_p.P100Q|SEC24D_ENST00000511481.1_Missense_Mutation_p.P175Q			O94855	SC24D_HUMAN	SEC24 family member D	544					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAACATGTCTGGAATCTGGTC	0.368																																																	0													99	98	99					4																	119673227		2203	4300	6503	SO:0001583	missense	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"SEC24 (S. cerevisiae) related gene family, member D", "SEC24 family, member D (S. cerevisiae)"			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1631C>A	4.37:g.119673227G>T	ENSP00000280551:p.Pro544Gln		Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.P545Q	ENST00000280551.6	37	c.1634	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.213473	0.95069	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86	5.54	5.54	0.83059	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.88702	0.6508	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.90161	0.4228	10	0.87932	D	0	-13.4791	19.4727	0.94969	0.0:0.0:1.0:0.0	.	545;544	O94855-2;O94855	.;SC24D_HUMAN	Q	544;545;100;175;100	ENSP00000280551:P544Q;ENSP00000369059:P545Q;ENSP00000409775:P100Q;ENSP00000425491:P175Q;ENSP00000388324:P100Q	ENSP00000280551:P544Q	P	-	2	0	SEC24D	119892675	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.706000	0.98722	2.594000	0.87642	0.585000	0.79938	CCA	SEC24D	-	pfam_Sec23/24_trunk_dom	ENSG00000150961		0.368	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	-	0	40	0	G			119673227	-1	tier1	-	no_errors	ENST00000379735	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	119673227	G	T	119673227	3	4	59	1	0	0	0	0	1	0	0	0	14042	1348	47	3	1511	3	SEC24D	4	119673227	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	33942075	119673227	71481049	113	16821											
FAT4	79633	genome.wustl.edu	37	chr4	126372688	126372688	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggaagatataaatgataAcgggcccatgctgactgtca	13	9	10	9	1	1	3	1	2	0	1	1	4	1	4	2	2	2	1	2	2	5	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:126372688A>C	ENST00000394329.3	+	9	10530	c.10517A>C	c.(10516-10518)aAc>aCc	p.N3506T	FAT4_ENST00000335110.5_Missense_Mutation_p.N1804T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3506	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAAATGATAACGGGCCCATG	0.488																																																	0													104	104	104					4																	126372688		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10517A>C	4.37:g.126372688A>C	ENSP00000377862:p.Asn3506Thr		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N3506T	ENST00000394329.3	37	c.10517	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873082	0.72180	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.52983	0.64;0.64	5.77	5.77	0.91146	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.36234	U	0.002704	T	0.77811	0.4186	H	0.94306	3.52	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.998	D;D;D	0.87578	0.998;0.966;0.991	D	0.84556	0.0647	10	0.87932	D	0	.	16.1024	0.81184	1.0:0.0:0.0:0.0	.	1804;3506;3506	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	T	3506;1804	ENSP00000377862:N3506T;ENSP00000335169:N1804T	ENSP00000335169:N1804T	N	+	2	0	FAT4	126592138	1.000000	0.71417	0.969000	0.41365	0.944000	0.59088	9.149000	0.94659	2.200000	0.70718	0.459000	0.35465	AAC	FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.488	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	29	0	A	NM_024582		126372688	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	C	C	126372688	A	C	126372688	3	2	59	1	0	0	0	0	1	0	0	0	5714	43	2	4	10551	4	FAT4	4	126372688	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	6699461	126372688	64781588	114	16822											
OTUD4	54726	genome.wustl.edu	37	chr4	146064566	146064566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgactttgatggtgatGaaactgttgcatatttatca	10	18	8	5	0	2	4	1	4	1	0	2	4	2	4	0	1	2	2	0	1	3	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:146064566G>A	ENST00000447906.2	-	17	1821	c.1634C>T	c.(1633-1635)tCa>tTa	p.S545L	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Missense_Mutation_p.S480L			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	545					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGATGGTGATGAAACTGTTGC	0.368																																																	0													101	96	98					4																	146064566		2203	4300	6503	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1634C>T	4.37:g.146064566G>A	ENSP00000395487:p.Ser545Leu		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.S545L	ENST00000447906.2	37	c.1634		4	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660946	0.67700	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.32515	1.45;1.45	5.93	5.93	0.95920	.	0.114545	0.40908	D	0.000991	T	0.25754	0.0627	L	0.32530	0.975	0.80722	D	1	B;B	0.31931	0.347;0.236	B;B	0.26416	0.069;0.031	T	0.03910	-1.0993	10	0.87932	D	0	-10.5694	15.854	0.78960	0.0:0.0:1.0:0.0	.	545;544	G3V0I6;Q01804	.;OTUD4_HUMAN	L	480;545	ENSP00000409279:S480L;ENSP00000395487:S545L	ENSP00000395487:S545L	S	-	2	0	OTUD4	146284016	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.771000	0.68881	2.826000	0.97356	0.655000	0.94253	TCA	OTUD4	-	NULL	ENSG00000164164		0.368	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2	-	0	16	0	G	NM_017493		146064566	-1	tier1	-	no_errors	ENST00000447906	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	A	A	146064566	G	A	146064566	3	1	59	1	0	0	0	0	1	0	0	0	11353	1294	45	3	1730	3	OTUD4	4	146064566	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	19691878	146064566	45089710	115	16823											
TMEM144	55314	genome.wustl.edu	37	chr4	159133833	159133833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaatcatgagcaacaatgGagcagacctaacctttggtt	13	10	10	8	0	1	2	1	1	0	1	1	4	1	4	2	3	4	3	2	3	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:159133833G>T	ENST00000296529.6	+	3	534	c.14G>T	c.(13-15)gGa>gTa	p.G5V	TMEM144_ENST00000514558.1_Missense_Mutation_p.G5V|TMEM144_ENST00000509278.1_Missense_Mutation_p.G5V	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	5						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AGCAACAATGGAGCAGACCTA	0.348																																																	0													173	142	153					4																	159133833		2203	4300	6503	SO:0001583	missense	0			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.14G>T	4.37:g.159133833G>T	ENSP00000296529:p.Gly5Val		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	pfam_DUF1632_TMEM144,pfam_Sugar_transport	p.G5V	ENST00000296529.6	37	c.14	CCDS3799.1	4	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279690	0.23307	.	.	ENSG00000164124	ENST00000505049;ENST00000505189;ENST00000511038;ENST00000508243;ENST00000296529;ENST00000512481;ENST00000504569;ENST00000509278;ENST00000514558;ENST00000503200;ENST00000502698;ENST00000514971	T;T;T	0.42131	1.0;0.98;0.99	5.57	-2.03	0.07365	.	1.031830	0.07618	N	0.926506	T	0.28830	0.0715	L	0.38175	1.15	0.09310	N	0.999991	B	0.20671	0.047	B	0.18561	0.022	T	0.24657	-1.0154	10	0.27082	T	0.32	0.4043	6.5269	0.22307	0.2767:0.3348:0.3885:0.0	.	5	Q7Z5S9	TM144_HUMAN	V	5	ENSP00000422297:G5V;ENSP00000296529:G5V;ENSP00000426211:G5V	ENSP00000296529:G5V	G	+	2	0	TMEM144	159353283	0.002000	0.14202	0.000000	0.03702	0.171000	0.22731	0.065000	0.14466	-0.513000	0.06496	-0.150000	0.13652	GGA	TMEM144	-	NULL	ENSG00000164124		0.348	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM144	HGNC	protein_coding	OTTHUMT00000365597.1	-	0	49	0	G	NM_018342		159133833	1	tier1	-	no_errors	ENST00000296529	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	159133833	G	T	159133833	3	4	59	1	0	0	0	0	1	0	0	0	16105	1174	41	3	16	3	TMEM144	4	159133833	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	13069267	159133833	32020443	116	16824											
FSTL5	56884	genome.wustl.edu	37	chr4	162697220	162697220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtattcagtagtcttgcacTtatctcctgtaacaaaagaa	13	14	6	8	0	3	1	1	0	2	1	4	1	3	1	1	0	2	4	1	0	7	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:162697220T>C	ENST00000306100.5	-	5	852	c.416A>G	c.(415-417)aAg>aGg	p.K139R	FSTL5_ENST00000536695.1_Missense_Mutation_p.K138R|FSTL5_ENST00000427802.2_Missense_Mutation_p.K138R|FSTL5_ENST00000379164.4_Missense_Mutation_p.K138R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	139						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGTCTTGCACTTATCTCCTGT	0.254																																																	0													36	35	35					4																	162697220		2200	4290	6490	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.416A>G	4.37:g.162697220T>C	ENSP00000305334:p.Lys139Arg		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.K139R	ENST00000306100.5	37	c.416	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	T	9.644	1.139799	0.21205	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74209	-0.79;-0.78;-0.82;-0.78	5.3	4.11	0.48088	.	0.346250	0.36303	N	0.002665	T	0.54775	0.1879	N	0.16478	0.41	0.24597	N	0.993798	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.38672	-0.9650	10	0.25106	T	0.35	.	8.1937	0.31383	0.0:0.1567:0.0:0.8433	.	138;138;139	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	139;138;138;138	ENSP00000305334:K139R;ENSP00000368462:K138R;ENSP00000389270:K138R;ENSP00000440409:K138R	ENSP00000305334:K139R	K	-	2	0	FSTL5	162916670	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.509000	0.53386	0.935000	0.37341	0.528000	0.53228	AAG	FSTL5	-	NULL	ENSG00000168843		0.254	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0	17	0	T	NM_020116		162697220	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	C	C	162697220	T	C	162697220	3	2	59	1	0	0	0	0	1	0	0	0	6104	1609	56	4	2175	4	FSTL5	4	162697220	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	3563387	162697220	28457056	117	16825											
NEK1	4750	genome.wustl.edu	37	chr4	170459006	170459006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcatagcttcccgttttCgctgcaggaactcttctact	6	15	7	13	2	3	0	0	0	3	0	5	1	4	1	1	1	5	5	1	1	3	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:170459006C>T	ENST00000439128.2	-	18	2259	c.1619G>A	c.(1618-1620)cGa>cAa	p.R540Q	NEK1_ENST00000507142.1_Missense_Mutation_p.R540Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R471Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R496Q|NEK1_ENST00000510533.1_Missense_Mutation_p.R496Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	540					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R540Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTCCCGTTTTCGCTGCAGGAA	0.393																																																	2	Substitution - Missense(2)	large_intestine(2)											293	281	285					4																	170459006		1863	4095	5958	SO:0001583	missense	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1619G>A	4.37:g.170459006C>T	ENSP00000408020:p.Arg540Gln		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R540Q	ENST00000439128.2	37	c.1619	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.438333	0.96168	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.72394	-0.65;-0.65;-0.63;-0.64;-0.63	5.91	5.91	0.95273	.	0.000000	0.53938	D	0.000043	D	0.84543	0.5495	M	0.71581	2.175	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.84802	0.0785	10	0.72032	D	0.01	.	19.8969	0.96969	0.0:1.0:0.0:0.0	.	471;496;540;496;540	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	Q	540;496;496;540;471	ENSP00000408020:R540Q;ENSP00000423332:R496Q;ENSP00000427653:R496Q;ENSP00000424757:R540Q;ENSP00000424938:R471Q	ENSP00000408020:R540Q	R	-	2	0	NEK1	170695581	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.040000	0.70980	2.799000	0.96334	0.650000	0.86243	CGA	NEK1	-	NULL	ENSG00000137601		0.393	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3		0	40	0	C			170459006	-1			no_errors	ENST00000507142	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	170459006	C	T	170459006	3	4	59	1	0	0	0	0	1	0	0	0	10360	884	31	1	2225	1	NEK1	4	170459006	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	7761786	170459006	20695270	118	16826											
FAT1	2195	genome.wustl.edu	37	chr4	187629119	187629119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttaatgacaataccccCgagttggggtttaaactaaa	13	11	8	9	2	0	1	0	1	0	0	0	2	0	1	2	2	2	3	2	2	7	7	rs551785621		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:187629119C>T	ENST00000441802.2	-	2	2072	c.1863G>A	c.(1861-1863)tcG>tcA	p.S621S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	621	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAATACCCCCGAGTTGGGGT	0.413										HNSCC(5;0.00058)			A|||	1	0.000199681	0	0	5008	,	,		20487	0		0.001	False		,,,				2504	0				Colon(197;1040 2055 4143 4984 49344)												0													69	64	66					4																	187629119		1859	4087	5946	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1863G>A	4.37:g.187629119C>T				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S621	ENST00000441802.2	37	c.1863	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.413	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	26	0	C	NM_005245		187629119	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.908	T	T	187629119	C	T	187629119	2	4	59	1	0	0	0	0	0	0	0	1	5711	639	23	1		1	FAT1	4	187629119	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	17170113	187629119	3525157	119	16827											
TRIML2	205860	genome.wustl.edu	37	chr4	189012836	189012836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcaagactttctctccGgaagctctggccgtgctgcc	6	10	12	13	2	2	2	0	1	2	1	4	3	3	3	3	2	4	3	3	2	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:189012836G>A	ENST00000512729.1	-	7	1229	c.855C>T	c.(853-855)tcC>tcT	p.S285S	TRIML2_ENST00000326754.3_Silent_p.S310S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	285	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTTTCTCTCCGGAAGCTCTGG	0.592																																																	0													147	154	152					4																	189012836		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.855C>T	4.37:g.189012836G>A			B7Z6J6	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.S285	ENST00000512729.1	37	c.855	CCDS3850.1	4																																																																																			TRIML2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000179046		0.592	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0	29	0	G	NM_173553		189012836	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.000	A	A	189012836	G	A	189012836	2	1	59	1	0	0	0	0	0	0	0	1	16599	1103	39	1		1	TRIML2	4	189012836	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1383717	189012836	2141440	120	16828											
TRIML1	339976	genome.wustl.edu	37	chr4	189060790	189060790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagactatttcagcagcccAgtgaccaccgagtgtgggca	10	9	11	11	1	1	2	1	1	0	1	1	3	1	2	3	1	2	2	3	1	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr4:189060790A>G	ENST00000332517.3	+	1	218	c.78A>G	c.(76-78)ccA>ccG	p.P26P	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	26					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCAGCAGCCCAGTGACCACCG	0.512																																					Melanoma(31;213 1036 16579 23968 32372)												0													177	173	175					4																	189060790		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.78A>G	4.37:g.189060790A>G			Q96BE5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.P26	ENST00000332517.3	37	c.78	CCDS3851.1	4																																																																																			TRIML1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000184108		0.512	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	-	0	22	0	A	NM_178556		189060790	1	tier1	-	no_errors	ENST00000332517	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.263	G	G	189060790	A	G	189060790	2	3	59	1	0	0	0	0	0	0	0	1	16598	175	7	4		4	TRIML1	4	189060790	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	47954	189060790	2093486	121	16829											
CTNND2	1501	genome.wustl.edu	37	chr5	11364954	11364954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactgcagggcccgcaacTctgggcccaggtgcccatgc	6	5	15	15	1	1	0	0	0	1	0	1	1	1	1	3	4	4	2	3	4	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:11364954T>C	ENST00000304623.8	-	8	1415	c.1226A>G	c.(1225-1227)gAg>gGg	p.E409G	CTNND2_ENST00000503622.1_Missense_Mutation_p.E72G|CTNND2_ENST00000511377.1_Missense_Mutation_p.E318G|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.E409G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	409					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGCCCGCAACTCTGGGCCCAG	0.567																																																	0													49	54	52					5																	11364954		2203	4300	6503	SO:0001583	missense	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1226A>G	5.37:g.11364954T>C	ENSP00000307134:p.Glu409Gly		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E409G	ENST00000304623.8	37	c.1226	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253278	0.80135	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551	T;T;T;D	0.81659	-1.31;-1.41;-1.3;-1.52	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000005	T	0.76335	0.3973	L	0.52573	1.65	0.80722	D	1	P;P	0.38922	0.608;0.651	B;B	0.35931	0.202;0.214	T	0.78605	-0.2139	10	0.54805	T	0.06	-20.337	15.5559	0.76192	0.0:0.0:0.0:1.0	.	72;409	B4DRK2;Q9UQB3	.;CTND2_HUMAN	G	409;409;318;72;149	ENSP00000307134:E409G;ENSP00000352661:E409G;ENSP00000426510:E318G;ENSP00000426887:E72G	ENSP00000307134:E409G	E	-	2	0	CTNND2	11417954	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	7.665000	0.83852	2.087000	0.62958	0.533000	0.62120	GAG	CTNND2	-	NULL	ENSG00000169862		0.567	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1		0	16	0	T	NM_001332		11364954	-1			no_errors	ENST00000304623	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	C	C	11364954	T	C	11364954	3	2	59	1	0	0	0	0	1	0	0	0	4029	1551	54	4	2511	4	CTNND2	5	11364954	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09		11364954	169550306	122	16830											
DNAH5	1767	genome.wustl.edu	37	chr5	13736028	13736028	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaagtagaggatgctGccccgcgtagccactggaag	11	6	15	9	2	0	2	0	1	0	1	0	5	0	5	3	3	3	3	3	3	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:13736028G>T	ENST00000265104.4	-	67	11573	c.11469C>A	c.(11467-11469)ggC>ggA	p.G3823G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3823					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGATGCTGCCCCGCGTAG	0.453									Kartagener syndrome																																								0													75	72	73					5																	13736028		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11469C>A	5.37:g.13736028G>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G3823	ENST00000265104.4	37	c.11469	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	13	0	G	NM_001369		13736028	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.998	T	T	13736028	G	T	13736028	2	4	59	1	0	0	0	0	0	0	0	1	4618	1306	46	3		3	DNAH5	5	13736028	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2371074	13736028	167179232	123	16831											
DNAH5	1767	genome.wustl.edu	37	chr5	13793813	13793813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatccattttgttccatcaGctgtcgcactatctcattcg	8	15	6	12	2	2	0	2	0	1	0	7	1	4	0	2	0	1	3	2	0	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:13793813G>T	ENST00000265104.4	-	49	8139	c.8035C>A	c.(8035-8037)Ctg>Atg	p.L2679M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2679	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTCCATCAGCTGTCGCACT	0.448									Kartagener syndrome																																								0													79	82	81					5																	13793813		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8035C>A	5.37:g.13793813G>T	ENSP00000265104:p.Leu2679Met		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L2679M	ENST00000265104.4	37	c.8035	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422848	0.43020	.	.	ENSG00000039139	ENST00000265104	T	0.35973	1.28	5.64	4.78	0.61160	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.47581	0.1453	L	0.52206	1.635	0.80722	D	1	P	0.52061	0.95	P	0.57283	0.817	T	0.32107	-0.9919	10	0.24483	T	0.36	.	14.7893	0.69827	0.0696:0.0:0.9304:0.0	.	2679	Q8TE73	DYH5_HUMAN	M	2679	ENSP00000265104:L2679M	ENSP00000265104:L2679M	L	-	1	2	DNAH5	13846813	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	4.654000	0.61469	1.400000	0.46741	-0.459000	0.05422	CTG	DNAH5	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000039139		0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	18	0	G	NM_001369		13793813	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	50.00	8	8	SNP	1.000	T	T	13793813	G	T	13793813	3	4	59	1	0	0	0	0	1	0	0	0	4618	962	34	3	5963	3	DNAH5	5	13793813	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	57785	13793813	167121447	124	16832											
CDH6	1004	genome.wustl.edu	37	chr5	31267714	31267714	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctctctggaaacagcaAaaatgagctgaaccgttcaa	15	7	10	9	1	2	2	1	2	1	0	3	4	2	4	1	2	5	4	1	2	5	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:31267714A>C	ENST00000265071.2	+	2	399	c.134A>C	c.(133-135)aAa>aCa	p.K45T	RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	45					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGAAACAGCAAAAATGAGCTG	0.493																																																	0													107	114	112					5																	31267714		2203	4300	6503	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.134A>C	5.37:g.31267714A>C	ENSP00000265071:p.Lys45Thr		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K45T	ENST00000265071.2	37	c.134	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053047	0.36181	.	.	ENSG00000113361	ENST00000265071	T	0.57752	0.38	5.8	2.18	0.27775	.	0.580093	0.20847	N	0.084585	T	0.37517	0.1006	L	0.29908	0.895	0.20926	N	0.999825	B;B	0.31485	0.325;0.27	B;B	0.37015	0.224;0.239	T	0.27020	-1.0086	10	0.11485	T	0.65	.	8.6542	0.34053	0.6257:0.0:0.3743:0.0	.	45;45	P55285;P55285-2	CADH6_HUMAN;.	T	45	ENSP00000265071:K45T	ENSP00000265071:K45T	K	+	2	0	CDH6	31303471	0.725000	0.28048	0.775000	0.31657	0.994000	0.84299	0.718000	0.25866	0.148000	0.19059	0.533000	0.62120	AAA	CDH6	-	NULL	ENSG00000113361		0.493	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0	56	0	A	NM_004932		31267714	1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	missense	40.62	38	26	SNP	0.414	C	C	31267714	A	C	31267714	3	2	59	1	0	0	0	0	1	0	0	0	3121	14	1	4	136	4	CDH6	5	31267714	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	17473901	31267714	149647546	125	16833											
TARS	6897	genome.wustl.edu	37	chr5	33455098	33455098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgaagccatggaaagaGtctatggtggatgtttatgc	10	12	15	4	0	1	2	0	1	1	1	1	4	1	4	1	4	2	1	1	4	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:33455098G>T	ENST00000265112.3	+	5	813	c.502G>T	c.(502-504)Gtc>Ttc	p.V168F	TARS_ENST00000455217.2_Missense_Mutation_p.V201F|TARS_ENST00000414361.2_Missense_Mutation_p.V47F|TARS_ENST00000541634.1_Missense_Mutation_p.V64F|TARS_ENST00000502553.1_Missense_Mutation_p.V168F	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	168					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CATGGAAAGAGTCTATGGTGG	0.408																																																	0													122	117	119					5																	33455098		2203	4300	6503	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.502G>T	5.37:g.33455098G>T	ENSP00000265112:p.Val168Phe		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.V168F	ENST00000265112.3	37	c.502	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604915	0.28623	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.86	5.86	0.93980	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.053292	0.64402	D	0.000001	T	0.05547	0.0146	N	0.19112	0.55	0.58432	D	0.999992	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.40850	-0.9541	10	0.11182	T	0.66	-13.3406	11.1944	0.48704	0.11:0.0:0.89:0.0	.	47;201;64;168	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	F	168;168;64;201;47	ENSP00000424387:V168F;ENSP00000265112:V168F;ENSP00000438469:V64F;ENSP00000387710:V201F	ENSP00000265112:V168F	V	+	1	0	TARS	33490855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.745000	0.55119	2.797000	0.96272	0.644000	0.83932	GTC	TARS	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000113407		0.408	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0	27	0	G	NM_152295		33455098	1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	33455098	G	T	33455098	3	4	59	1	0	0	0	0	1	0	0	0	15606	1029	36	3	520	3	TARS	5	33455098	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2187384	33455098	147460162	126	16834											
RAI14	26064	genome.wustl.edu	37	chr5	34808690	34808690	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatattttccttcccccagcGgctcagggctgccttcaagc	6	12	8	15	1	2	0	2	0	0	0	4	0	4	0	4	2	3	2	4	2	3	6	rs150040739		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:34808690G>T	ENST00000265109.3	+	7	668	c.381G>T	c.(379-381)gcG>gcT	p.A127A	RAI14_ENST00000428746.2_Splice_Site_p.A127A|RAI14_ENST00000503673.1_Splice_Site_p.A127A|RAI14_ENST00000506376.1_Splice_Site_p.A119A|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000515799.1_Splice_Site_p.A130A|RAI14_ENST00000397449.1_Splice_Site_p.A120A|RAI14_ENST00000512629.1_Splice_Site_p.A127A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	127						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTCCCCCAGCGGCTCAGGGCT	0.478																																																	0													110	100	103					5																	34808690		2203	4300	6503	SO:0001630	splice_region_variant	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.380-1G>T	5.37:g.34808690G>T			E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A130	ENST00000265109.3	37	c.390	CCDS34142.1	5																																																																																			RAI14	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000039560		0.478	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	-	0	52	0	G	NM_015577	Silent	34808690	1	tier1	-	no_errors	ENST00000515799	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.324	T	T	34808690	G	T	34808690	5	4	59	1	0	0	0	0	0	0	1	0	13053	1130	39	2	468	2	RAI14	5	34808690	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1353592	34808690	146106570	127	16835											
SLC30A5	64924	genome.wustl.edu	37	chr5	68423939	68423939	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgacatctgatgtgctaGaacaaagaatagtacagcag	16	8	11	6	0	1	4	0	2	1	2	1	4	1	4	0	1	4	3	0	1	6	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:68423939G>T	ENST00000396591.3	+	15	2717	c.2107G>T	c.(2107-2109)Gaa>Taa	p.E703*	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	703					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TGATGTGCTAGAACAAAGAAT	0.348																																																	0													125	131	129					5																	68423939		2203	4300	6503	SO:0001587	stop_gained	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.2107G>T	5.37:g.68423939G>T	ENSP00000379836:p.Glu703*		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Nonsense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.E703*	ENST00000396591.3	37	c.2107	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	45	11.935581	0.99619	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.4567	0.90722	0.0:0.0:1.0:0.0	.	.	.	.	X	703;298	.	ENSP00000379836:E703X	E	+	1	0	SLC30A5	68459695	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.411000	0.97342	2.689000	0.91719	0.491000	0.48974	GAA	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000145740		0.348	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0	28	0	G			68423939	1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	1.000	T	T	68423939	G	T	68423939	4	4	59	1	0	0	0	0	0	1	0	0	14603	943	33	3	2253	3	SLC30A5	5	68423939	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	33615249	68423939	112491321	128	16836											
CMYA5	202333	genome.wustl.edu	37	chr5	79027139	79027140	+	Frame_Shift_Ins	INS	-	-	CATC																															ttccccagatttggttgttgINScatctgaacactctttccca																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:79027139_79027140insCATC	ENST00000446378.2	+	2	2582_2583	c.2551_2552insCATC	c.(2551-2553)gcafs	p.-852fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5						negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTGGTTGTTGCATCTGAACAC	0.48																																																	0																																										SO:0001589	frameshift_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2552_2555dupCATC	5.37:g.79027140_79027143dupCATC	ENSP00000394770:p.Ser852fs		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.E853fs	ENST00000446378.2	37	c.2551_2552	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.48	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0	68	0	-	NM_153610		79027140	1	tier1		no_errors	ENST00000446378	ensembl	human	known	74_37	frame_shift_ins	58.33	10	14	INS	0.000:0.000	CATC	CATC	79027140	-	CATC	79027139	7	5	59	1	0	1	1	0	0	0	0	0	3597	1319	46	0	2557	0	CMYA5	5	79027139	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	10603200	79027139	101888121	129	16837											
ERAP2	64167	genome.wustl.edu	37	chr5	96253165	96253165	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttcaatattttacaGgtgaaactattttttgaatc	11	21	4	5	0	2	2	1	2	1	0	3	2	2	2	0	1	2	0	0	1	6	10			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:96253165G>T	ENST00000437043.3	+	19	3450		c.e19-1		CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Splice_Site	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2						antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		ATATTTTACAGGTGAAACTAT	0.398																																																	1	Unknown(1)	skin(1)											59	64	62					5																	96253165		2203	4300	6503	SO:0001630	splice_region_variant	0			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2740-1G>T	5.37:g.96253165G>T			Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Splice_Site	SNP	-	e18-1	ENST00000437043.3	37	c.2740-1	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777339	0.70107	.	.	ENSG00000164308	ENST00000437043;ENST00000379904	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.269	0.60150	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERAP2	96278921	1.000000	0.71417	0.997000	0.53966	0.956000	0.61745	6.324000	0.72896	2.280000	0.76307	0.557000	0.71058	.	ERAP2	-	-	ENSG00000164308		0.398	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2		0	38	0	G	NM_022350	Intron	96253165	1			no_errors	ENST00000437043	ensembl	human	known	74_37	splice_site	11.11	16	2	SNP	1.000	T	T	96253165	G	T	96253165	5	4	59	1	0	0	0	0	0	0	1	0	5220	1014	35	3	2809	3	ERAP2	5	96253165	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	17226026	96253165	84662095	130	16838											
SLCO4C1	353189	genome.wustl.edu	37	chr5	101583021	101583021	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataattacaataaagaaaatGcaaaggaatatgggcagttt	20	10	8	3	0	0	1	0	0	0	1	0	2	0	2	0	2	2	3	0	2	10	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:101583021G>T	ENST00000310954.6	-	10	2032	c.1746C>A	c.(1744-1746)tgC>tgA	p.C582*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TAAAGAAAATGCAAAGGAATA	0.353																																																	0													110	120	116					5																	101583021		2203	4300	6503	SO:0001587	stop_gained	0			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1746C>A	5.37:g.101583021G>T	ENSP00000309741:p.Cys582*			Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.C582*	ENST00000310954.6	37	c.1746	CCDS34205.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.511471	0.96402	.	.	ENSG00000173930	ENST00000310954	.	.	.	6.17	-0.269	0.12930	.	0.244668	0.35151	N	0.003414	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	0.9751	0.01424	0.1998:0.228:0.3377:0.2345	.	.	.	.	X	582	.	ENSP00000309741:C582X	C	-	3	2	SLCO4C1	101610920	0.007000	0.16637	0.192000	0.23308	0.138000	0.21146	0.484000	0.22308	-0.348000	0.08286	0.655000	0.94253	TGC	SLCO4C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000173930		0.353	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	-	0	35	0	G	NM_180991		101583021	-1	tier1	-	no_errors	ENST00000310954	ensembl	human	known	74_37	nonsense	12.12	29	4	SNP	0.332	T	T	101583021	G	T	101583021	4	4	59	1	0	0	0	0	0	1	0	0	14775	1311	46	3	444	3	SLCO4C1	5	101583021	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5329856	101583021	79332239	131	16839											
WDR36	134430	genome.wustl.edu	37	chr5	110461440	110461440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatgattgggatgatgctgGacagaaagcgtgattttgag	13	11	14	3	1	0	5	0	4	0	1	0	7	0	7	0	2	2	1	0	2	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:110461440G>T	ENST00000513710.2	+	22	2657	c.2653G>T	c.(2653-2655)Gac>Tac	p.D885Y	WDR36_ENST00000506538.2_Missense_Mutation_p.D885Y			Q8NI36	WDR36_HUMAN	WD repeat domain 36	885					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.D885N(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GATGATGCTGGACAGAAAGCG	0.453																																																	1	Substitution - Missense(1)	lung(1)											166	161	163					5																	110461440		2202	4300	6502	SO:0001583	missense	0			AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"WD repeat domain containing"	30696	protein-coding gene	gene with protein product		609669	"glaucoma 1, open angle, G"	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2653G>T	5.37:g.110461440G>T	ENSP00000424628:p.Asp885Tyr		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D885Y	ENST00000513710.2	37	c.2653	CCDS4102.1	5	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236094	0.22626	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.77229	-1.08;-1.08	5.39	3.48	0.39840	Small-subunit processome, Utp21 (1);	0.549745	0.21922	N	0.067155	T	0.66809	0.2827	L	0.44542	1.39	0.80722	D	1	B	0.30634	0.288	B	0.30401	0.115	T	0.69146	-0.5222	10	0.87932	D	0	-3.5768	5.9583	0.19286	0.1453:0.1982:0.6565:0.0	.	885	Q8NI36	WDR36_HUMAN	Y	885	ENSP00000423067:D885Y;ENSP00000424628:D885Y	ENSP00000423067:D885Y	D	+	1	0	WDR36	110489339	0.999000	0.42202	0.999000	0.59377	0.232000	0.25224	1.549000	0.36212	2.668000	0.90789	0.650000	0.86243	GAC	WDR36	-	pfam_SSU_processome_Utp21	ENSG00000134987		0.453	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	WDR36	HGNC	protein_coding	OTTHUMT00000373504.3		0	46	0	G	NM_139281		110461440	1			no_errors	ENST00000506538	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.957	T	T	110461440	G	T	110461440	3	4	59	1	0	0	0	0	1	0	0	0	17339	1174	41	3	2739	3	WDR36	5	110461440	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	8878419	110461440	70453820	132	16840											
FBN2	2201	genome.wustl.edu	37	chr5	127645012	127645012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatatgtgcagcagcacatCctttttgtcacattgaaagg	11	14	8	8	0	1	1	1	1	0	0	2	1	2	1	1	1	3	3	1	1	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:127645012C>A	ENST00000508053.1	-	47	6254	c.5280G>T	c.(5278-5280)agG>agT	p.R1760S	FBN2_ENST00000262464.4_Missense_Mutation_p.R1760S			P35556	FBN2_HUMAN	fibrillin 2	1760	TB 7.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCAGCACATCCTTTTTGTCA	0.433																																																	0													167	136	147					5																	127645012		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5280G>T	5.37:g.127645012C>A	ENSP00000424571:p.Arg1760Ser		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R1760S	ENST00000508053.1	37	c.5280	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	c	14.66	2.601707	0.46423	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91407	-2.84;-2.84	4.85	1.8	0.24995	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000006	T	0.78966	0.4367	N	0.08118	0	0.33316	D	0.56675	B	0.25772	0.134	B	0.29077	0.098	T	0.74244	-0.3728	10	0.38643	T	0.18	.	8.7546	0.34637	0.0:0.7227:0.0:0.2773	.	1760	P35556	FBN2_HUMAN	S	1760	ENSP00000262464:R1760S;ENSP00000424571:R1760S	ENSP00000262464:R1760S	R	-	3	2	FBN2	127672911	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.596000	0.36718	0.238000	0.21222	-1.112000	0.02068	AGG	FBN2	-	pirsf_FBN,pfam_TB_dom,superfamily_TB_dom	ENSG00000138829		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	34	0	C	NM_001999		127645012	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	76.00	5	19	SNP	1.000	A	A	127645012	C	A	127645012	3	1	59	1	0	0	0	0	1	0	0	0	5725	854	30	3	3558	3	FBN2	5	127645012	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	17183572	127645012	53270248	133	16841											
PCDHA7	56141	genome.wustl.edu	37	chr5	140216158	140216158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgccgtcctctgagggCgcatgtagtttggtaaagcc	7	10	13	11	3	2	1	1	1	1	0	3	1	3	1	3	2	2	4	3	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:140216158C>T	ENST00000525929.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.G730G|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	730					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGAGGGCGCATGTAGTT	0.632																																					NSCLC(160;258 2013 5070 22440 28951)												0													83	73	76					5																	140216158		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2190C>T	5.37:g.140216158C>T			O75282	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G730	ENST00000525929.1	37	c.2190	CCDS54918.1	5																																																																																			PCDHA7	-	NULL	ENSG00000204963		0.632	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	56	0	C	NM_018910		140216158	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.061	T	T	140216158	C	T	140216158	2	4	59	1	0	0	0	0	0	0	0	1	11568	755	27	1		1	PCDHA7	5	140216158	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	12571146	140216158	40699102	134	16842											
PCDHA12	56137	genome.wustl.edu	37	chr5	140257158	140257158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatattaacgtgtacctcAtcatcgccatctgtgcggtg	8	13	10	10	3	3	0	2	0	1	0	4	1	3	1	2	2	3	1	2	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:140257158A>G	ENST00000398631.2	+	1	2101	c.2101A>G	c.(2101-2103)Atc>Gtc	p.I701V	PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	701					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTACCTCATCATCGCCAT	0.662																																					Pancreas(113;759 1672 13322 24104 50104)												0													42	43	43					5																	140257158		2203	4299	6502	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2101A>G	5.37:g.140257158A>G	ENSP00000381628:p.Ile701Val		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I701V	ENST00000398631.2	37	c.2101	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384724	0.25031	.	.	ENSG00000251664	ENST00000398631	T	0.48201	0.82	4.94	4.94	0.65067	.	.	.	.	.	T	0.45438	0.1342	M	0.71036	2.16	0.24293	N	0.995151	B;B	0.26147	0.143;0.088	B;B	0.31614	0.133;0.047	T	0.42783	-0.9431	9	0.10377	T	0.69	.	8.9399	0.35722	0.9159:0.0:0.0841:0.0	.	701;701	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	701	ENSP00000381628:I701V	ENSP00000381628:I701V	I	+	1	0	PCDHA12	140237342	0.000000	0.05858	0.998000	0.56505	0.553000	0.35397	-0.197000	0.09518	1.853000	0.53794	0.533000	0.62120	ATC	PCDHA12	-	NULL	ENSG00000251664		0.662	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	30	0	A	NM_018903		140257158	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	64.71	12	22	SNP	0.997	G	G	140257158	A	G	140257158	3	3	59	1	0	0	0	0	1	0	0	0	11561	217	8	4	2103	4	PCDHA12	5	140257158	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	41000	140257158	40658102	135	16843											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482553	140482553	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagccaattatccccaacTtcgttgctcagggtgcagag	10	10	10	11	1	1	2	1	1	0	1	3	2	2	2	3	1	4	3	3	1	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:140482553T>G	ENST00000231130.2	+	1	2320	c.2320T>G	c.(2320-2322)Ttc>Gtc	p.F774V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	774					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCCCCAACTTCGTTGCTCA	0.517																																																	0													77	79	79					5																	140482553		2202	4297	6499	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2320T>G	5.37:g.140482553T>G	ENSP00000231130:p.Phe774Val		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F774V	ENST00000231130.2	37	c.2320	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265968	0.23136	.	.	ENSG00000113205	ENST00000231130	T	0.13307	2.6	3.34	-4.91	0.03085	.	.	.	.	.	T	0.09423	0.0232	L	0.42245	1.32	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.33854	-0.9852	9	0.41790	T	0.15	.	4.061	0.09839	0.2132:0.45:0.0:0.3368	.	774	Q9Y5E6	PCDB3_HUMAN	V	774	ENSP00000231130:F774V	ENSP00000231130:F774V	F	+	1	0	PCDHB3	140462737	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.816000	0.00752	-1.343000	0.02219	0.402000	0.26972	TTC	PCDHB3	-	NULL	ENSG00000113205		0.517	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	43	0	T	NM_018937		140482553	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	64.52	11	20	SNP	0.000	G	G	140482553	T	G	140482553	3	3	59	1	0	0	0	0	1	0	0	0	11582	1609	56	4	2322	4	PCDHB3	5	140482553	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	225395	140482553	40432707	136	16844											
PCDHB8	56128	genome.wustl.edu	37	chr5	140558592	140558592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcgaggcgagagatgctgGaggcttttctggaaaatgca	11	10	14	6	2	1	1	0	0	1	1	2	6	1	3	0	4	2	3	0	4	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:140558592G>A	ENST00000239444.2	+	1	1222	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGATGCTGGAGGCTTTTCT	0.418																																																	0													176	246	222					5																	140558592		2203	4300	6503	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.977G>A	5.37:g.140558592G>A	ENSP00000239444:p.Gly326Glu		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G326E	ENST00000239444.2	37	c.977	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839436	0.32513	.	.	ENSG00000120322	ENST00000239444	T	0.01745	4.66	4.25	4.25	0.50352	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.17916	0.0430	H	0.96518	3.835	0.32330	N	0.561242	D	0.76494	0.999	D	0.79784	0.993	T	0.47560	-0.9108	9	0.87932	D	0	.	16.2711	0.82622	0.0:0.0:1.0:0.0	.	326	Q9UN66	PCDB8_HUMAN	E	326	ENSP00000239444:G326E	ENSP00000239444:G326E	G	+	2	0	PCDHB8	140538776	1.000000	0.71417	0.126000	0.21872	0.223000	0.24884	3.461000	0.53035	1.911000	0.55334	0.585000	0.79938	GGA	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120322		0.418	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	71	0	G	NM_019120		140558592	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.943	A	A	140558592	G	A	140558592	3	1	59	1	0	0	0	0	1	0	0	0	11587	1174	41	3	979	3	PCDHB8	5	140558592	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	76039	140558592	40356668	137	16845											
TIMD4	91937	genome.wustl.edu	37	chr5	156375476	156375476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttttccacattgacacGtgggatgttgatgggagatc	8	13	12	8	2	0	3	0	2	0	1	3	5	1	4	1	2	0	2	1	2	0	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:156375476G>A	ENST00000274532.2	-	5	851	c.795C>T	c.(793-795)caC>caT	p.H265H	TIMD4_ENST00000407087.3_Intron	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	265	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACATTGACACGTGGGATGTTG	0.378																																																	0													77	65	69					5																	156375476		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.795C>T	5.37:g.156375476G>A			B5MCL9	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.H265	ENST00000274532.2	37	c.795	CCDS4332.1	5																																																																																			TIMD4	-	NULL	ENSG00000145850		0.378	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMD4	HGNC	protein_coding	OTTHUMT00000252568.1		0	13	0	G	NM_138379		156375476	-1			no_errors	ENST00000274532	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.001	A	A	156375476	G	A	156375476	2	1	59	1	0	0	0	0	0	0	0	1	15950	1136	40	1		1	TIMD4	5	156375476	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	15816884	156375476	24539784	138	16846											
ODZ2	57451	genome.wustl.edu	37	chr5	167675091	167675091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgttcagcatcaacGgcctcatgatcaaacagctg	10	10	10	11	1	4	1	4	1	0	0	4	1	4	1	1	2	4	4	1	2	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:167675091G>T	ENST00000518659.1	+	27	7186	c.7147G>T	c.(7147-7149)Ggc>Tgc	p.G2383C	TENM2_ENST00000545108.1_Missense_Mutation_p.G2382C|TENM2_ENST00000519204.1_Missense_Mutation_p.G2262C|TENM2_ENST00000520394.1_Missense_Mutation_p.G2144C|TENM2_ENST00000403607.2_Missense_Mutation_p.G2207C	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2383					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CAGCATCAACGGCCTCATGAT	0.537																																																	0													159	162	161					5																	167675091		2026	4186	6212	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7147G>T	5.37:g.167675091G>T	ENSP00000429430:p.Gly2383Cys		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G2383C	ENST00000518659.1	37	c.7147		5	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092971	0.56075	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.94537	-2.96;-2.94;-3.1;-3.4;-3.45	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.98223	0.9412	H	0.96142	3.775	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.951	D	0.99470	1.0945	10	0.87932	D	0	.	17.997	0.89187	0.0:0.0:1.0:0.0	.	2382;2383;2144	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	C	2383;2382;2262;2144;2207	ENSP00000429430:G2383C;ENSP00000438635:G2382C;ENSP00000428964:G2262C;ENSP00000427874:G2144C;ENSP00000384905:G2207C	ENSP00000384905:G2207C	G	+	1	0	ODZ2	167607669	1.000000	0.71417	0.327000	0.25402	0.733000	0.41908	9.601000	0.98297	2.556000	0.86216	0.561000	0.74099	GGC	TENM2	-	NULL	ENSG00000145934		0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1		0	16	0	G	NM_001122679		167675091	1			no_errors	ENST00000518659	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	167675091	G	T	167675091	3	4	59	1	0	0	0	0	1	0	0	0	10874	1116	39	2	7226	2	ODZ2	5	167675091	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	11299615	167675091	13240169	139	16847											
C5orf41	153222	genome.wustl.edu	37	chr5	172539365	172539365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taataaagtgaaattatgggGcctcaacacagaatatggta	17	10	9	5	0	1	2	1	1	0	1	1	2	1	2	1	3	1	1	1	3	9	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:172539365G>T	ENST00000296953.2	+	7	1983	c.1664G>T	c.(1663-1665)gGc>gTc	p.G555V	CREBRF_ENST00000540014.1_Missense_Mutation_p.G557V	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	555	bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AAATTATGGGGCCTCAACACA	0.358																																																	0													75	78	77					5																	172539365		2203	4300	6503	SO:0001583	missense	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1664G>T	5.37:g.172539365G>T	ENSP00000296953:p.Gly555Val		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.G557V	ENST00000296953.2	37	c.1670	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695815	0.88830	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.21031	2.03;2.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17349	-1.0372	10	0.72032	D	0.01	.	19.5275	0.95212	0.0:0.0:1.0:0.0	.	555	Q8IUR6	CE041_HUMAN	V	555;557;555;555	ENSP00000296953:G555V;ENSP00000440075:G557V	ENSP00000296953:G555V	G	+	2	0	C5orf41	172471971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.334000	0.96470	2.621000	0.88768	0.591000	0.81541	GGC	CREBRF	-	NULL	ENSG00000164463		0.358	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	-	0	59	0	G	NM_153607		172539365	1	tier1	-	no_errors	ENST00000540014	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	172539365	G	T	172539365	3	4	59	1	0	0	0	0	1	0	0	0	2307	1203	42	3	1718	3	C5orf41	5	172539365	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4864274	172539365	8375895	140	16848											
ZNF454	285676	genome.wustl.edu	37	chr5	178392572	178392572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttataaatgtaatgaatgTgggaaagctttcagggataa	15	12	10	4	0	1	1	1	1	0	0	1	3	1	3	1	2	1	2	1	2	7	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:178392572T>C	ENST00000320129.3	+	5	1470	c.1167T>C	c.(1165-1167)tgT>tgC	p.C389C	ZNF454_ENST00000519564.1_Silent_p.C389C	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTAATGAATGTGGGAAAGCTT	0.418																																																	0													54	57	56					5																	178392572		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1167T>C	5.37:g.178392572T>C			Q2M1P2|Q2M323	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C389	ENST00000320129.3	37	c.1167	CCDS4441.1	5																																																																																			ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.418	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2		0	13	0	T	XM_209718		178392572	1			no_errors	ENST00000320129	ensembl	human	known	74_37	silent	14.29	12	2	SNP	1.000	C	C	178392572	T	C	178392572	2	2	59	1	0	0	0	0	0	0	0	1	17971	1702	59	4		4	ZNF454	5	178392572	Silent	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	5853207	178392572	2522688	141	16849											
GRM6	2916	genome.wustl.edu	37	chr5	178410025	178410025	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgaaggtctcgggcacGccacgggccttgatggcgta	6	9	15	11	5	1	2	0	2	1	0	3	2	1	2	2	4	0	3	2	4	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:178410025G>T	ENST00000517717.1	-	10	2360	c.2322C>A	c.(2320-2322)ggC>ggA	p.G774G	GRM6_ENST00000231188.5_Silent_p.G774G|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	774					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TCTCGGGCACGCCACGGGCCT	0.597																																																	0													130	107	115					5																	178410025		2203	4300	6503	SO:0001819	synonymous_variant	0			U82083	CCDS4442.1	5q35	2014-01-28						"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2322C>A	5.37:g.178410025G>T				Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.G774	ENST00000517717.1	37	c.2322	CCDS4442.1	5																																																																																			GRM6	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000113262		0.597	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2		0	44	0	G			178410025	-1			no_errors	ENST00000231188	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.001	T	T	178410025	G	T	178410025	2	4	59	1	0	0	0	0	0	0	0	1	6828	1074	38	2		2	GRM6	5	178410025	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	17453	178410025	2505235	142	16850											
CANX	821	genome.wustl.edu	37	chr5	179147423	179147423	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatgaagacatggatggAgaatgggaggctcctcagat	13	7	16	5	0	1	4	1	1	0	3	2	8	2	7	1	5	0	1	1	5	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr5:179147423A>G	ENST00000247461.4	+	10	1244	c.1044A>G	c.(1042-1044)ggA>ggG	p.G348G	CANX_ENST00000512607.2_Silent_p.G240G|CANX_ENST00000504734.1_Silent_p.G348G|CANX_ENST00000415618.2_Silent_p.G383G|CANX_ENST00000452673.2_Silent_p.G348G	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	348	4 X approximate repeats.|Interaction with PPIB. {ECO:0000250}.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ACATGGATGGAGAATGGGAGG	0.502																																																	0													125	120	122					5																	179147423		2203	4300	6503	SO:0001819	synonymous_variant	0			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"major histocompatibility complex class I antigen-binding protein p88"	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1044A>G	5.37:g.179147423A>G			B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.G383	ENST00000247461.4	37	c.1149	CCDS4447.1	5																																																																																			CANX	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	ENSG00000127022		0.502	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	-	0	65	0	A	NM_001024649		179147423	1	tier1	-	no_errors	ENST00000415618	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.970	G	G	179147423	A	G	179147423	2	3	59	1	0	0	0	0	0	0	0	1	2625	291	11	4		4	CANX	5	179147423	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	737398	179147423	1767837	143	16851											
SERPINB9	5272	genome.wustl.edu	37	chr6	2900764	2900764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacaggagaacagaacaCgttgtgcgaagggttatctt	12	9	12	8	2	2	2	1	0	1	2	2	4	2	2	0	2	3	3	0	2	4	3	rs372377669		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:2900764C>T	ENST00000380698.4	-	2	171	c.82G>A	c.(82-84)Gtg>Atg	p.V28M		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	28					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAACAGAACACGTTGTGCGAA	0.517																																																	0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	245	224	231		82	3.5	0.7	6		231	0,8600		0,0,4300	no	missense	SERPINB9	NM_004155.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	28/377	2900764	1,13005	2203	4300	6503	SO:0001583	missense	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.82G>A	6.37:g.2900764C>T	ENSP00000370074:p.Val28Met		B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.V28M	ENST00000380698.4	37	c.82	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964273	0.53507	2.27E-4	0.0	ENSG00000170542	ENST00000380698	D	0.85955	-2.05	5.37	3.55	0.40652	Serpin domain (3);	0.233607	0.44097	D	0.000484	D	0.87966	0.6311	M	0.85299	2.745	0.35687	D	0.814557	D	0.67145	0.996	D	0.68621	0.959	D	0.88209	0.2889	10	0.66056	D	0.02	.	4.8872	0.13708	0.0:0.4558:0.3553:0.1889	.	28	P50453	SPB9_HUMAN	M	28	ENSP00000370074:V28M	ENSP00000370074:V28M	V	-	1	0	SERPINB9	2845763	0.014000	0.17966	0.659000	0.29680	0.005000	0.04900	-0.060000	0.11712	1.378000	0.46305	-0.175000	0.13238	GTG	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	ENSG00000170542		0.517	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	-	0	61	0	C			2900764	-1	tier1	-	no_errors	ENST00000380698	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.549	T	T	2900764	C	T	2900764	3	4	59	1	0	0	0	0	1	0	0	0	14153	536	19	1	1072	1	SERPINB9	6	2900764	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09		2900764	168214303	144	16852											
TUBB2B	347733	genome.wustl.edu	37	chr6	3225656	3225656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtggttgaggtcccCgtaggtgggggtggtcagct	5	9	18	9	1	1	1	1	1	0	0	2	1	2	1	3	7	1	3	3	7	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:3225656C>T	ENST00000259818.7	-	4	858	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	223					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTGAGGTCCCCGTAGGTGGGG	0.617																																																	0													41	27	32					6																	3225656		1508	3172	4680	SO:0001583	missense	0			BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"Tubulins"	30829	protein-coding gene	gene with protein product	"class IIb beta-tubulin"	612850	"tubulin, beta 2B"			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.667G>A	6.37:g.3225656C>T	ENSP00000259818:p.Gly223Arg		A8K068	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G223R	ENST00000259818.7	37	c.667	CCDS4485.1	6	.	.	.	.	.	.	.	.	.	.	C	16.62	3.172948	0.57584	.	.	ENSG00000137285	ENST00000259818	T	0.67865	-0.29	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.64402	D	0.000003	T	0.79185	0.4403	M	0.74467	2.265	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.77004	0.976;0.976;0.989	T	0.82090	-0.0629	10	0.87932	D	0	.	18.4992	0.90875	0.0:1.0:0.0:0.0	.	223;223;223	Q8IZ29;Q8IWP6;Q9BVA1	.;.;TBB2B_HUMAN	R	223	ENSP00000259818:G223R	ENSP00000259818:G223R	G	-	1	0	TUBB2B	3170655	1.000000	0.71417	0.963000	0.40424	0.977000	0.68977	7.620000	0.83070	2.368000	0.80403	0.603000	0.83216	GGG	TUBB2B	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	ENSG00000137285		0.617	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2B	HGNC	protein_coding	OTTHUMT00000039680.2	-	0	63	0	C	NM_178012		3225656	-1	tier1	-	no_errors	ENST00000259818	ensembl	human	known	74_37	missense	42.11	33	24	SNP	1.000	T	T	3225656	C	T	3225656	3	4	59	1	0	0	0	0	1	0	0	0	16804	652	23	1	674	1	TUBB2B	6	3225656	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	324892	3225656	167889411	145	16853											
KIAA0319	9856	genome.wustl.edu	37	chr6	24547478	24547478	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggattccctctctccatcTtttctcggctgaagattgtg	5	17	8	11	1	3	2	0	1	3	1	7	3	5	3	2	2	0	1	2	2	1	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:24547478T>A	ENST00000378214.3	-	21	3658	c.3134A>T	c.(3133-3135)aAg>aTg	p.K1045M	KIAA0319_ENST00000430948.2_Missense_Mutation_p.K1000M|KIAA0319_ENST00000535378.1_Missense_Mutation_p.K1036M|KIAA0319_ENST00000537886.1_Missense_Mutation_p.K984M|KIAA0319_ENST00000543707.1_Missense_Mutation_p.K1045M	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1045					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCTCTCCATCTTTTCTCGGCT	0.468																																																	0													191	178	183					6																	24547478		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3134A>T	6.37:g.24547478T>A	ENSP00000367459:p.Lys1045Met		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.K1045M	ENST00000378214.3	37	c.3134	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221930	0.39300	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08807	3.12;3.05;3.06;3.05;3.05	3.9	1.9	0.25705	.	0.330140	0.24539	N	0.037649	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	D;P;P	0.60575	0.988;0.955;0.924	P;P;P	0.56514	0.708;0.8;0.514	T	0.36578	-0.9742	10	0.59425	D	0.04	-9.6765	7.0762	0.25205	0.0:0.4872:0.0:0.5128	.	984;1036;1045	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	M	984;1036;1000;1045;1045	ENSP00000439700:K984M;ENSP00000442403:K1036M;ENSP00000401086:K1000M;ENSP00000367459:K1045M;ENSP00000437656:K1045M	ENSP00000367459:K1045M	K	-	2	0	KIAA0319	24655457	0.373000	0.25073	0.105000	0.21289	0.956000	0.61745	0.834000	0.27518	0.473000	0.27368	-0.242000	0.12053	AAG	KIAA0319	-	NULL	ENSG00000137261		0.468	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	40	0	T	NM_014809		24547478	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	33.90	38	20	SNP	0.192	A	A	24547478	T	A	24547478	3	1	59	1	0	0	0	0	1	0	0	0	8195	1609	56	5	88	5	KIAA0319	6	24547478	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	21321822	24547478	146567589	146	16854											
TRIM38	10475	genome.wustl.edu	37	chr6	25972225	25972225	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagactctgagtagactGagggactatgaggctggtct	11	9	13	8	0	2	5	0	3	2	2	2	6	2	6	0	3	1	2	0	3	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:25972225G>T	ENST00000357085.3	+	5	1112	c.636G>T	c.(634-636)ctG>ctT	p.L212L	TRIM38_ENST00000349458.3_Silent_p.L212L	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	212					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TGAGTAGACTGAGGGACTATG	0.488																																																	0													75	79	77					6																	25972225		2203	4300	6503	SO:0001819	synonymous_variant	0			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.636G>T	6.37:g.25972225G>T			B2R862	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L212	ENST00000357085.3	37	c.636	CCDS4568.1	6																																																																																			TRIM38	-	NULL	ENSG00000112343		0.488	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	HGNC	protein_coding	OTTHUMT00000040076.2		0	26	0	G			25972225	1			no_errors	ENST00000349458	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.874	T	T	25972225	G	T	25972225	2	4	59	1	0	0	0	0	0	0	0	1	16560	1277	45	3		3	TRIM38	6	25972225	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1424747	25972225	145142842	147	16855											
AIF1	199	genome.wustl.edu	37	chr6	31583913	31583913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaccttaatggaaatGgcgatattggtgagaaacgg	13	11	13	4	2	0	2	0	2	0	1	0	5	0	3	1	4	1	1	1	4	4	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:31583913G>T	ENST00000376059.3	+	4	333	c.187G>T	c.(187-189)Ggc>Tgc	p.G63C	AIF1_ENST00000376049.4_Missense_Mutation_p.G9C	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	63	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)|ovary(1)	3						TAATGGAAATGGCGATATTGG	0.522																																					Ovarian(23;358 734 36938 38933 52312)												0													171	166	167					6																	31583913		1510	2707	4217	SO:0001583	missense	0			U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"EF-hand domain containing"	352	protein-coding gene	gene with protein product	"interferon gamma responsive transcript", "ionized calcium-binding adapter molecule 1"	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.187G>T	6.37:g.31583913G>T	ENSP00000365227:p.Gly63Cys		A8K406|O43904|Q9UIV4|Q9UKS9	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.G63C	ENST00000376059.3	37	c.187	CCDS4706.1	6	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621836	0.66787	.	.	ENSG00000204472	ENST00000376059;ENST00000337917;ENST00000376049	T;T;T	0.66995	-0.24;-0.24;-0.24	4.42	4.42	0.53409	EF-hand-like domain (1);	2.361970	0.02467	N	0.087177	D	0.86564	0.5963	M	0.94142	3.5	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76198	-0.3047	10	0.87932	D	0	-3.6605	14.9259	0.70878	0.0:0.0:1.0:0.0	.	9;63	O43904;P55008	.;AIF1_HUMAN	C	63;77;9	ENSP00000365227:G63C;ENSP00000338776:G77C;ENSP00000365217:G9C	ENSP00000338776:G77C	G	+	1	0	AIF1	31691892	1.000000	0.71417	0.962000	0.40283	0.480000	0.33159	8.433000	0.90291	2.461000	0.83175	0.557000	0.71058	GGC	AIF1	-	pfscan_EF_hand_dom	ENSG00000204472		0.522	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIF1	HGNC	protein_coding	OTTHUMT00000076512.3	-	0	53	0	G			31583913	1	tier1	-	no_errors	ENST00000376059	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.999	T	T	31583913	G	T	31583913	3	4	59	1	0	0	0	0	1	0	0	0	424	1348	47	3	201	3	AIF1	6	31583913	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5611688	31583913	139531154	148	16856											
TNXB	7148	genome.wustl.edu	37	chr6	32037592	32037592	+	Frame_Shift_Del	DEL	T	T	-																															agctcctcccccagacggggTtttgggggacgctttgttcc																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:32037592delT	ENST00000375244.3	-	15	5526	c.5325delA	c.(5323-5325)aaafs	p.K1775fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.K1775fs			P22105	TENX_HUMAN	tenascin XB	1857	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAGACGGGGTTTTGGGGGAC	0.592																																																	0													26	28	27					6																	32037592		1928	4137	6065	SO:0001589	frameshift_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5325delA	6.37:g.32037592delT	ENSP00000364393:p.Lys1775fs		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.K1775fs	ENST00000375244.3	37	c.5325		6																																																																																			TNXB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000168477		0.592	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0	44	0	T	NM_019105		32037592	-1	tier1		no_errors	ENST00000375247	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.394	-	-	32037592	T	-	32037592	7	5	59	1	0	1	0	1	0	0	0	0	16393	1722	60	0	9508	0	TNXB	6	32037592	Frame_Shift_Del	DEL	T	TCGA-L5-A4OJ-01A-11D-A27G-09	453679	32037592	139077475	149	16857											
MDGA1	266727	genome.wustl.edu	37	chr6	37606423	37606423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccctttgttccgggaccGcaccaggaggttgagggagc	7	7	15	12	2	0	1	0	1	0	0	1	4	1	4	5	4	2	3	5	4	0	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:37606423G>A	ENST00000434837.3	-	15	3735	c.2557C>T	c.(2557-2559)Cgg>Tgg	p.R853W	MDGA1_ENST00000297153.7_Missense_Mutation_p.R857W|MDGA1_ENST00000505425.1_Missense_Mutation_p.R853W	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	853	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TTCCGGGACCGCACCAGGAGG	0.612																																																	0													37	43	41					6																	37606423		2057	4196	6253	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2557C>T	6.37:g.37606423G>A	ENSP00000402584:p.Arg853Trp		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R857W	ENST00000434837.3	37	c.2569	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547862	0.86022	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.02631	4.22;4.22;4.22	5.04	4.17	0.49024	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.300767	0.23114	N	0.051769	T	0.09512	0.0234	M	0.89353	3.025	0.32666	N	0.517485	D;D	0.89917	1.0;0.999	D;D	0.73708	0.981;0.913	T	0.02491	-1.1151	10	0.87932	D	0	.	11.0973	0.48152	0.0:0.0:0.6662:0.3338	.	853;853	Q8NFP4-2;Q8NFP4	.;MDGA1_HUMAN	W	853;857;853	ENSP00000402584:R853W;ENSP00000297153:R857W;ENSP00000422042:R853W	ENSP00000297153:R857W	R	-	1	2	MDGA1	37714401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.525000	0.53502	1.217000	0.43442	0.650000	0.86243	CGG	MDGA1	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000112139		0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	16	0	G			37606423	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	missense	57.14	9	12	SNP	1.000	A	A	37606423	G	A	37606423	3	1	59	1	0	0	0	0	1	0	0	0	9444	1086	38	1	322	1	MDGA1	6	37606423	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5568831	37606423	133508644	150	16858											
MDGA1	266727	genome.wustl.edu	37	chr6	37626178	37626178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccgaggcgctacctgcCgtcttggtccaccgtacctg	4	11	11	15	4	1	0	0	0	1	0	3	1	3	0	6	2	3	2	6	2	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:37626178C>T	ENST00000434837.3	-	3	1403	c.225G>A	c.(223-225)acG>acA	p.T75T	MDGA1_ENST00000297153.7_Silent_p.T75T|MDGA1_ENST00000505425.1_Silent_p.T75T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	75	Ig-like 1.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCTACCTGCCGTCTTGGTCC	0.657																																																	0													66	74	71					6																	37626178		2088	4201	6289	SO:0001819	synonymous_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.225G>A	6.37:g.37626178C>T			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.T75	ENST00000434837.3	37	c.225	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.657	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	35	0	C			37626178	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	silent	30.95	29	13	SNP	0.000	T	T	37626178	C	T	37626178	2	4	59	1	0	0	0	0	0	0	0	1	9444	639	23	1		1	MDGA1	6	37626178	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	19755	37626178	133488889	151	16859											
TFAP2D	83741	genome.wustl.edu	37	chr6	50683161	50683161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcgcgggcgctcaagtcGtcctgcctggacgagcagag	8	6	15	12	5	1	1	1	0	0	1	3	3	2	2	2	2	3	2	2	2	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:50683161G>A	ENST00000008391.3	+	2	600	c.372G>A	c.(370-372)tcG>tcA	p.S124S		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCTCAAGTCGTCCTGCCTGG	0.607																																																	0													74	74	74					6																	50683161		2203	4300	6503	SO:0001819	synonymous_variant	0			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.372G>A	6.37:g.50683161G>A				Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.S124	ENST00000008391.3	37	c.372	CCDS4933.1	6																																																																																			TFAP2D	-	NULL	ENSG00000008197		0.607	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	-	0	34	0	G	NM_172238		50683161	1	tier1	-	no_errors	ENST00000008391	ensembl	human	known	74_37	silent	47.50	21	19	SNP	1.000	A	A	50683161	G	A	50683161	2	1	59	1	0	0	0	0	0	0	0	1	15837	1132	40	1		1	TFAP2D	6	50683161	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	13056983	50683161	120431906	152	16860											
FILIP1	27145	genome.wustl.edu	37	chr6	76023490	76023490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttattcttggcaatttgGtgcttgatctcctctagttg	5	19	9	8	0	3	1	0	1	3	0	4	1	3	1	1	2	1	4	1	2	3	8			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:76023490G>T	ENST00000237172.7	-	5	2388	c.2058C>A	c.(2056-2058)caC>caA	p.H686Q	FILIP1_ENST00000393004.2_Missense_Mutation_p.H686Q|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.H587Q	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	686										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGGCAATTTGGTGCTTGATCT	0.428																																																	0													221	220	220					6																	76023490		2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2058C>A	6.37:g.76023490G>T	ENSP00000237172:p.His686Gln		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.H686Q	ENST00000237172.7	37	c.2058	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	2.646	-0.282946	0.05642	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.16457	2.34;2.34;2.34	5.66	2.93	0.34026	.	0.269175	0.43110	D	0.000613	T	0.02380	0.0073	N	0.08118	0	0.34420	D	0.69737	B;B;B	0.28971	0.229;0.084;0.137	B;B;B	0.30251	0.019;0.053;0.113	T	0.42258	-0.9462	10	0.13470	T	0.59	-20.4553	8.5125	0.33226	0.2902:0.0:0.7098:0.0	.	686;686;686	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	686;686;587	ENSP00000376728:H686Q;ENSP00000237172:H686Q;ENSP00000359037:H587Q	ENSP00000237172:H686Q	H	-	3	2	FILIP1	76080210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.164000	0.42387	0.759000	0.33084	0.563000	0.77884	CAC	FILIP1	-	NULL	ENSG00000118407		0.428	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0	56	0	G	XM_029179		76023490	-1	tier1	-	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	76023490	G	T	76023490	3	4	59	1	0	0	0	0	1	0	0	0	5916	1252	44	3	1591	3	FILIP1	6	76023490	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	25340329	76023490	95091577	153	16861											
SNAP91	9892	genome.wustl.edu	37	chr6	84315485	84315485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctccagaggaaaagtctgGctggaggtccaggagatcac	11	6	13	11	0	2	2	1	0	1	2	4	5	4	4	3	5	0	1	3	5	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:84315485G>T	ENST00000439399.2	-	14	1376	c.1060C>A	c.(1060-1062)Cca>Aca	p.P354T	SNAP91_ENST00000195649.6_Missense_Mutation_p.P354T|SNAP91_ENST00000520213.1_Missense_Mutation_p.P338T|SNAP91_ENST00000520302.1_Missense_Mutation_p.P352T|SNAP91_ENST00000521485.1_Missense_Mutation_p.P354T|SNAP91_ENST00000437520.1_Missense_Mutation_p.P338T|SNAP91_ENST00000428679.2_Missense_Mutation_p.P354T|SNAP91_ENST00000369694.2_Missense_Mutation_p.P354T|SNAP91_ENST00000521743.1_Missense_Mutation_p.P354T	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	354					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAAAAGTCTGGCTGGAGGTCC	0.463																																																	0													20	24	23					6																	84315485		2012	4143	6155	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.1060C>A	6.37:g.84315485G>T	ENSP00000400459:p.Pro354Thr		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P354T	ENST00000439399.2	37	c.1060	CCDS47455.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.582661|1.582661	0.28180|0.28180	.|.	.|.	ENSG00000065609|ENSG00000065609	ENST00000369691|ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000447888	.|T;T;T;T;T;T;T;T;T;T	.|0.58652	.|2.26;2.28;2.28;2.26;2.28;0.32;2.32;2.28;0.32;0.32	5.72|5.72	4.85|4.85	0.62838|0.62838	.|.	.|0.156329	.|0.64402	.|D	.|0.000015	T|T	0.65196|0.65196	0.2668|0.2668	L|L	0.60455|0.60455	1.87|1.87	0.43803|0.43803	D|D	0.996352|0.996352	.|D;D;D;D	.|0.76494	.|0.999;0.998;0.998;0.998	.|D;D;D;D	.|0.78314	.|0.991;0.981;0.981;0.981	T|T	0.69544|0.69544	-0.5117|-0.5117	5|10	.|0.56958	.|D	.|0.05	-10.3685|-10.3685	15.0746|15.0746	0.72066|0.72066	0.0681:0.0:0.9319:0.0|0.0681:0.0:0.9319:0.0	.|.	.|338;352;354;352	.|O60641-3;E5RI02;O60641;E1P549	.|.;.;AP180_HUMAN;.	D|T	13|354;354;354;354;354;338;352;354;338;352;80	.|ENSP00000429776:P354T;ENSP00000358708:P354T;ENSP00000400459:P354T;ENSP00000195649:P354T;ENSP00000412492:P354T;ENSP00000413277:P338T;ENSP00000428511:P352T;ENSP00000428215:P354T;ENSP00000428026:P338T;ENSP00000430071:P352T	.|ENSP00000195649:P354T	A|P	-|-	2|1	0|0	SNAP91|SNAP91	84372204|84372204	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.039000|0.039000	0.13416|0.13416	6.698000|6.698000	0.74608|0.74608	1.559000|1.559000	0.49555|0.49555	-0.145000|-0.145000	0.13849|0.13849	GCC|CCA	SNAP91	-	NULL	ENSG00000065609		0.463	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	-	0	56	0	G			84315485	-1	tier1	-	no_errors	ENST00000369694	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	84315485	G	T	84315485	3	4	59	1	0	0	0	0	1	0	0	0	14878	1203	42	3	1727	3	SNAP91	6	84315485	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	8291995	84315485	86799582	154	16862											
FHL5	9457	genome.wustl.edu	37	chr6	97058632	97058632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgttccaaacccattaGtggtgagttcttcagttcaa	10	13	8	10	0	3	1	2	1	1	0	4	1	4	1	3	1	2	3	3	1	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:97058632G>T	ENST00000326771.2	+	6	1069	c.689G>T	c.(688-690)aGt>aTt	p.S230I	FHL5_ENST00000541107.1_Missense_Mutation_p.S230I	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	230	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAACCCATTAGTGGTGAGTTC	0.388																																																	0													135	131	133					6																	97058632		2203	4300	6503	SO:0001583	missense	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.689G>T	6.37:g.97058632G>T	ENSP00000326022:p.Ser230Ile		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S230I	ENST00000326771.2	37	c.689	CCDS5035.1	6	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226249	0.39300	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	D;D	0.87256	-2.23;-2.23	5.98	3.24	0.37175	Zinc finger, LIM-type (5);	0.145914	0.32081	N	0.006608	T	0.65217	0.2670	N	0.20685	0.6	0.26476	N	0.975192	B	0.18610	0.029	B	0.25614	0.062	T	0.61987	-0.6949	10	0.87932	D	0	.	10.0727	0.42343	0.0:0.7591:0.1144:0.1264	.	230	Q5TD97	FHL5_HUMAN	I	230	ENSP00000442357:S230I;ENSP00000326022:S230I	ENSP00000326022:S230I	S	+	2	0	FHL5	97165353	0.701000	0.27806	0.989000	0.46669	0.674000	0.39518	0.806000	0.27126	0.879000	0.35944	-0.153000	0.13522	AGT	FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000112214		0.388	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1		0	26	0	G	NM_020482		97058632	1			no_errors	ENST00000326771	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.921	T	T	97058632	G	T	97058632	3	4	59	1	0	0	0	0	1	0	0	0	5903	1029	36	3	703	3	FHL5	6	97058632	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	12743147	97058632	74056435	155	16863											
ARMC2	84071	genome.wustl.edu	37	chr6	109286189	109286189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttattaactcaggttagtGgactgtttaagagatttggg	10	17	11	3	0	1	1	1	0	0	1	1	3	1	2	0	3	1	2	0	3	4	7			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:109286189G>T	ENST00000392644.4	+	17	2460	c.2292G>T	c.(2290-2292)gtG>gtT	p.V764V	ARMC2_ENST00000368972.3_Silent_p.V599V|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	764										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCAGGTTAGTGGACTGTTTAA	0.338																																																	0													164	168	167					6																	109286189		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"Armadillo repeat containing"	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.2292G>T	6.37:g.109286189G>T			A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.V764	ENST00000392644.4	37	c.2292	CCDS5069.2	6																																																																																			ARMC2	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000118690		0.338	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	-	0	41	0	G	NM_032131		109286189	1	tier1	-	no_errors	ENST00000392644	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	109286189	G	T	109286189	2	4	59	1	0	0	0	0	0	0	0	1	952	1335	47	3		3	ARMC2	6	109286189	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	12227557	109286189	61828878	156	16864											
C6orf182	285753	genome.wustl.edu	37	chr6	109481828	109481828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaaagtcattcagtctGtgacgacatagaatgtgaac	15	10	9	7	1	3	4	2	3	1	1	3	5	3	4	0	0	2	0	0	0	5	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:109481828G>T	ENST00000517392.1	+	10	1496	c.1070G>T	c.(1069-1071)tGt>tTt	p.C357F	CEP57L1_ENST00000368968.2_Missense_Mutation_p.C357F|CEP57L1_ENST00000368970.2_Missense_Mutation_p.C374F|CEP57L1_ENST00000407272.1_Missense_Mutation_p.C357F|CEP57L1_ENST00000336977.4_Missense_Mutation_p.C257F|CEP57L1_ENST00000521522.1_Missense_Mutation_p.C304F|CEP57L1_ENST00000520883.1_Missense_Mutation_p.C257F|CEP57L1_ENST00000359793.3_Missense_Mutation_p.C357F|CEP57L1_ENST00000523787.1_Missense_Mutation_p.C360F	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	357					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CATTCAGTCTGTGACGACATA	0.343																																																	0													83	81	82					6																	109481828		2203	4298	6501	SO:0001583	missense	0			AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 182"	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1070G>T	6.37:g.109481828G>T	ENSP00000427844:p.Cys357Phe		G5E992	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.C357F	ENST00000517392.1	37	c.1070	CCDS5071.1	6	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.765646	0.00651	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368968;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793;ENST00000523174	T;T;T;T;T;T;T;T;T	0.42131	0.99;0.99;0.98;0.98;0.99;0.99;0.98;0.99;0.99	5.19	-2.46	0.06461	.	0.869304	0.10614	N	0.654175	T	0.07007	0.0178	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32079	-0.9920	10	0.23302	T	0.38	0.9889	1.0775	0.01635	0.3981:0.1143:0.268:0.2195	.	357;357	Q8IYX8;G5E992	CE57L_HUMAN;.	F	357;357;257;304;357;374;257;360;357;138	ENSP00000427844:C357F;ENSP00000383936:C357F;ENSP00000337392:C257F;ENSP00000428344:C304F;ENSP00000357964:C357F;ENSP00000357966:C374F;ENSP00000430011:C257F;ENSP00000430529:C360F;ENSP00000352841:C357F	ENSP00000337392:C257F	C	+	2	0	CEP57L1	109588521	0.166000	0.22962	0.098000	0.21074	0.100000	0.18952	0.107000	0.15375	-0.363000	0.08101	-0.158000	0.13435	TGT	CEP57L1	-	pfam_Cep57_MT-bd_dom	ENSG00000183137		0.343	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	CEP57L1	HGNC	protein_coding	OTTHUMT00000041734.4	-	0	23	0	G	NM_173830		109481828	1	tier1	-	no_errors	ENST00000359793	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.016	T	T	109481828	G	T	109481828	3	4	59	1	0	0	0	0	1	0	0	0	2353	1377	48	3	1104	3	C6orf182	6	109481828	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	195639	109481828	61633239	157	16865											
KPNA5	3841	genome.wustl.edu	37	chr6	117023196	117023196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttagtttgaagctgcatgGgcattaacaaatatagcatc	13	13	8	7	0	1	1	0	1	1	0	2	1	1	1	0	1	4	5	0	1	6	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:117023196G>T	ENST00000368564.1	+	6	598	c.450G>T	c.(448-450)tgG>tgT	p.W150C	KPNA5_ENST00000356348.1_Missense_Mutation_p.W150C			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)	147	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGCTGCATGGGCATTAACAA	0.358																																																	0													91	90	90					6																	117023196		2203	4300	6503	SO:0001583	missense	0			AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"Importins", "Armadillo repeat containing"	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.450G>T	6.37:g.117023196G>T	ENSP00000357552:p.Trp150Cys		B2RAI5|Q86X23	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.W150C	ENST00000368564.1	37	c.450	CCDS5111.1	6	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492025	0.64074	.	.	ENSG00000196911	ENST00000368564;ENST00000356348	T;T	0.74842	-0.88;-0.88	5.51	4.63	0.57726	Armadillo-like helical (1);Armadillo-type fold (1);	0.075335	0.56097	N	0.000023	D	0.88381	0.6421	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92198	0.5765	10	0.87932	D	0	.	15.5714	0.76341	0.0:0.0:0.8608:0.1392	.	147	O15131	IMA5_HUMAN	C	150	ENSP00000357552:W150C;ENSP00000348704:W150C	ENSP00000348704:W150C	W	+	3	0	KPNA5	117129889	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.066000	0.93949	1.303000	0.44873	-0.293000	0.09583	TGG	KPNA5	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000196911		0.358	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA5	HGNC	protein_coding	OTTHUMT00000041967.1		0	27	0	G	NM_002269		117023196	1			no_errors	ENST00000356348	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	117023196	G	T	117023196	3	4	59	1	0	0	0	0	1	0	0	0	8460	1241	43	3	472	3	KPNA5	6	117023196	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7541368	117023196	54091871	158	16866											
GPRC6A	222545	genome.wustl.edu	37	chr6	117114295	117114295	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagtagggagagaatcagGagtaggatggccaaggagtc	13	5	16	7	0	1	1	1	0	0	1	2	6	1	5	2	5	0	2	2	5	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:117114295G>T	ENST00000310357.3	-	6	1812	c.1791C>A	c.(1789-1791)ctC>ctA	p.L597L	GPRC6A_ENST00000530250.1_Silent_p.L422L|GPRC6A_ENST00000368549.3_Silent_p.L526L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	597					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AGAGAATCAGGAGTAGGATGG	0.428																																																	0													106	102	104					6																	117114295		2203	4300	6503	SO:0001819	synonymous_variant	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1791C>A	6.37:g.117114295G>T			Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.L597	ENST00000310357.3	37	c.1791	CCDS5112.1	6																																																																																			GPRC6A	-	pfscan_GPCR_3_C	ENSG00000173612		0.428	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	-	0	20	0	G			117114295	-1	tier1	-	no_errors	ENST00000310357	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.015	T	T	117114295	G	T	117114295	2	4	59	1	0	0	0	0	0	0	0	1	6755	1161	41	3		3	GPRC6A	6	117114295	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	91099	117114295	54000772	159	16867											
ASF1A	25842	genome.wustl.edu	37	chr6	119226836	119226836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgatgcacctaatccagGactcattccagatgcagatg	11	9	10	11	0	1	3	1	1	0	2	3	4	3	4	3	2	2	3	3	2	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:119226836G>T	ENST00000229595.5	+	3	439	c.245G>T	c.(244-246)gGa>gTa	p.G82V	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	82	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		CCTAATCCAGGACTCATTCCA	0.383																																																	0													192	193	193					6																	119226836		1904	4130	6034	SO:0001583	missense	0			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.245G>T	6.37:g.119226836G>T	ENSP00000229595:p.Gly82Val		Q6IA08|Q9P014	Missense_Mutation	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.G82V	ENST00000229595.5	37	c.245	CCDS47469.1	6	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958041	0.53400	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.34521	1.04	0.80722	D	1	P	0.38551	0.636	P	0.46172	0.506	T	0.51803	-0.8659	9	0.62326	D	0.03	-20.3978	11.9011	0.52685	0.0654:0.1224:0.8122:0.0	.	82	Q9Y294	ASF1A_HUMAN	V	82	.	ENSP00000229595:G82V	G	+	2	0	ASF1A	119268535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.734000	0.62043	1.630000	0.50440	0.655000	0.94253	GGA	ASF1A	-	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	ENSG00000111875		0.383	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1A	HGNC	protein_coding	OTTHUMT00000361910.1		0	30	0	G	NM_014034		119226836	1			no_errors	ENST00000229595	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	119226836	G	T	119226836	3	4	59	1	0	0	0	0	1	0	0	0	1038	1174	41	3	142	3	ASF1A	6	119226836	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2112541	119226836	51888231	160	16868											
ALDH8A1	64577	genome.wustl.edu	37	chr6	135239827	135239827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaaggggacgacacacGtcactggaccaaatatctct	14	8	8	11	2	3	0	2	0	1	0	4	3	3	2	1	3	0	0	1	3	4	2	rs150799987		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:135239827G>A	ENST00000265605.2	-	7	1258	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T343M|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T347M	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	397					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GACGACACACGTCACTGGACC	0.522																																																	0								G	MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	160	120	134		1040,1190,1028	5.7	1	6	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	81,81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	347/438,397/488,343/434	135239827	1,13005	2203	4300	6503	SO:0001583	missense	0			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1190C>T	6.37:g.135239827G>A	ENSP00000265605:p.Thr397Met		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.T397M	ENST00000265605.2	37	c.1190	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473088	0.84640	0.0	1.16E-4	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847;ENST00000460753	T;T;T;T	0.75821	-0.97;1.58;-0.97;-0.97	5.72	5.72	0.89469	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.042392	0.85682	D	0.000000	T	0.67767	0.2928	N	0.17345	0.48	0.80722	D	1	D;D;D	0.58970	0.984;0.965;0.972	P;P;P	0.57425	0.82;0.725;0.82	T	0.67998	-0.5525	10	0.33940	T	0.23	.	19.8673	0.96808	0.0:0.0:1.0:0.0	.	347;343;397	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	M	397;343;347;82	ENSP00000265605:T397M;ENSP00000356819:T343M;ENSP00000356821:T347M;ENSP00000437161:T82M	ENSP00000265605:T397M	T	-	2	0	ALDH8A1	135281520	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.641000	0.74324	2.698000	0.92095	0.655000	0.94253	ACG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000118514		0.522	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	-	0	17	0	G			135239827	-1	tier1	rs150799987	no_errors	ENST00000265605	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	A	A	135239827	G	A	135239827	3	1	59	1	0	0	0	0	1	0	0	0	505	1145	40	1	277	1	ALDH8A1	6	135239827	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	16012991	135239827	35875240	161	16869											
REPS1	85021	genome.wustl.edu	37	chr6	139235842	139235842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggagaattacctgtgaggGctgtggtcttggaggcactg	7	12	16	6	0	1	2	0	1	1	1	1	4	1	3	1	5	1	2	1	5	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:139235842G>T	ENST00000450536.2	-	15	2351	c.1777C>A	c.(1777-1779)Ccc>Acc	p.P593T	REPS1_ENST00000415951.2_Missense_Mutation_p.P566T|REPS1_ENST00000258062.5_Missense_Mutation_p.P592T|REPS1_ENST00000367663.4_Missense_Mutation_p.P566T|REPS1_ENST00000409812.2_Missense_Mutation_p.P502T			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	593	Pro-rich.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ACCTGTGAGGGCTGTGGTCTT	0.403																																																	0													127	126	126					6																	139235842		2203	4300	6503	SO:0001583	missense	0				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"EF-hand domain containing"	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1777C>A	6.37:g.139235842G>T	ENSP00000392065:p.Pro593Thr		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.P593T	ENST00000450536.2	37	c.1777		6	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995984	0.93167	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668;ENST00000530255	T;T;T;T;T;T	0.37058	1.22;1.27;1.25;1.25;1.23;1.27	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.58583	1.82	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;1.0;0.997;1.0	D;P;D;P;D	0.87578	0.943;0.879;0.998;0.879;0.996	T	0.10314	-1.0635	10	0.21540	T	0.41	-6.6724	18.3895	0.90477	0.0:0.0:1.0:0.0	.	592;541;502;593;566	Q96D71-3;B2R7D3;Q96D71-2;Q96D71;E9PMG1	.;.;.;REPS1_HUMAN;.	T	593;566;551;502;592;566;541;116	ENSP00000392065:P593T;ENSP00000356635:P566T;ENSP00000434251:P551T;ENSP00000386699:P502T;ENSP00000258062:P592T;ENSP00000397941:P566T	ENSP00000258062:P592T	P	-	1	0	REPS1	139277535	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.279000	0.78599	2.878000	0.98634	0.650000	0.86243	CCC	REPS1	-	NULL	ENSG00000135597		0.403	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	-	0	38	0	G			139235842	-1	tier1	-	no_errors	ENST00000450536	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	139235842	G	T	139235842	3	4	59	1	0	0	0	0	1	0	0	0	13273	1203	42	3	637	3	REPS1	6	139235842	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3996015	139235842	31879225	162	16870											
TAB2	23118	genome.wustl.edu	37	chr6	149699963	149699963	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcattcatctggtagctcAcagtcttctgcccatagcca	9	13	6	13	0	6	0	3	0	3	0	6	0	6	0	2	1	3	2	2	1	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:149699963A>C	ENST00000367456.1	+	4	1489	c.912A>C	c.(910-912)tcA>tcC	p.S304S	TAB2_ENST00000286332.5_Silent_p.S304S|TAB2_ENST00000392282.1_Silent_p.S304S|TAB2_ENST00000538427.1_Silent_p.S304S|TAB2_ENST00000536230.1_Silent_p.S272S			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	304					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.S304S(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CTGGTAGCTCACAGTCTTCTG	0.413																																																	1	Substitution - coding silent(1)	lung(1)											142	127	132					6																	149699963		2203	4300	6503	SO:0001819	synonymous_variant	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"mitogen-activated protein kinase kinase kinase 7 interacting protein 2"	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.912A>C	6.37:g.149699963A>C			B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S304	ENST00000367456.1	37	c.912	CCDS5214.1	6																																																																																			TAB2	-	NULL	ENSG00000055208		0.413	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3		0	20	0	A			149699963	1			no_errors	ENST00000286332	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.999	C	C	149699963	A	C	149699963	2	2	59	1	0	0	0	0	0	0	0	1	15543	146	6	4		4	TAB2	6	149699963	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	10464121	149699963	21415104	163	16871											
C6orf97	80129	genome.wustl.edu	37	chr6	151857458	151857458	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggaattctaccaggaaacTtacgatcatctttcggaagt	12	11	10	8	2	3	0	1	0	2	0	4	4	3	3	1	4	3	0	1	4	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:151857458T>G	ENST00000239374.7	+	2	162	c.63T>G	c.(61-63)acT>acG	p.T21T	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Silent_p.T21T	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	21																	ACCAGGAAACTTACGATCATC	0.438																																																	0													92	87	88					6																	151857458		1835	4090	5925	SO:0001819	synonymous_variant	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.63T>G	6.37:g.151857458T>G			Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.T21	ENST00000239374.7	37	c.63	CCDS43515.1	6																																																																																			CCDC170	-	NULL	ENSG00000120262		0.438	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	-	0	21	0	T	NM_025059		151857458	1	tier1	-	no_errors	ENST00000367290	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.000	G	G	151857458	T	G	151857458	2	3	59	1	0	0	0	0	0	0	0	1	2381	1596	56	4		4	C6orf97	6	151857458	Silent	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	2157495	151857458	19257609	164	16872											
SYNE1	23345	genome.wustl.edu	37	chr6	152737805	152737805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccatccagactgacggCagcagattctaatgctttag	12	10	9	10	1	1	3	0	1	1	2	2	3	2	3	2	1	3	3	2	1	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:152737805C>A	ENST00000367255.5	-	41	6368	c.5767G>T	c.(5767-5769)Gcc>Tcc	p.A1923S	SYNE1_ENST00000265368.4_Missense_Mutation_p.A1923S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1930S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1960S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1930S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1923					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACTGACGGCAGCAGATTCT	0.453										HNSCC(10;0.0054)																																							0													106	103	104					6																	152737805		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5767G>T	6.37:g.152737805C>A	ENSP00000356224:p.Ala1923Ser		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A1923S	ENST00000367255.5	37	c.5767	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525832	0.27299	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.60548	0.25;0.28;0.18;0.24;0.39	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000007	T	0.31575	0.0801	L	0.45581	1.43	0.80722	D	1	P;P;P;B	0.44429	0.835;0.636;0.636;0.136	B;B;B;B	0.37422	0.249;0.156;0.156;0.046	T	0.25117	-1.0141	10	0.07644	T	0.81	.	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	1906;1923;1923;1930	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	1923;1930;1923;1930;1960	ENSP00000356224:A1923S;ENSP00000396024:A1930S;ENSP00000265368:A1923S;ENSP00000390975:A1930S;ENSP00000341887:A1960S	ENSP00000265368:A1923S	A	-	1	0	SYNE1	152779498	1.000000	0.71417	0.286000	0.24833	0.005000	0.04900	4.804000	0.62554	2.885000	0.99019	0.655000	0.94253	GCC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	10	0	C	NM_182961		152737805	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.997	A	A	152737805	C	A	152737805	3	1	59	1	0	0	0	0	1	0	0	0	15492	710	25	3	21123	3	SYNE1	6	152737805	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	880347	152737805	18377262	165	16873											
SYNE1	23345	genome.wustl.edu	37	chr6	152738136	152738136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgccctttttgctctctacTtctgctgcgtggtcctggaa	3	16	9	13	2	2	0	0	0	2	0	5	1	3	1	2	2	4	2	2	2	2	4	rs376944188		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:152738136T>G	ENST00000367255.5	-	41	6037	c.5436A>C	c.(5434-5436)gaA>gaC	p.E1812D	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1812D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1819D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1849D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1819D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1812					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTCTCTACTTCTGCTGCGT	0.498										HNSCC(10;0.0054)																																							0													92	92	92					6																	152738136		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5436A>C	6.37:g.152738136T>G	ENSP00000356224:p.Glu1812Asp		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1812D	ENST00000367255.5	37	c.5436	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	8.274	0.814034	0.16537	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	6.16	2.52	0.30459	.	0.087235	0.49305	D	0.000151	T	0.28134	0.0694	L	0.60455	1.87	0.80722	D	1	B;D;D;D	0.58970	0.321;0.984;0.984;0.98	B;P;P;P	0.53861	0.123;0.554;0.554;0.736	T	0.12630	-1.0540	10	0.22109	T	0.4	.	4.8236	0.13405	0.1262:0.1978:0.0:0.676	.	1795;1812;1812;1819	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	D	1812;1819;1812;1819;1849	ENSP00000356224:E1812D;ENSP00000396024:E1819D;ENSP00000265368:E1812D;ENSP00000390975:E1819D;ENSP00000341887:E1849D	ENSP00000265368:E1812D	E	-	3	2	SYNE1	152779829	1.000000	0.71417	0.083000	0.20561	0.179000	0.23085	1.657000	0.37366	0.208000	0.20626	-0.309000	0.09137	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.498	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	22	0	T	NM_182961		152738136	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.998	G	G	152738136	T	G	152738136	3	3	59	1	0	0	0	0	1	0	0	0	15492	1606	56	4	21454	4	SYNE1	6	152738136	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	331	152738136	18376931	166	16874											
EZR	7430	genome.wustl.edu	37	chr6	159190425	159190425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccaggagggcaatcttgGcagtgtattctgcaagctcc	8	11	11	11	0	2	0	0	0	2	0	4	1	4	1	2	3	2	5	2	3	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:159190425G>T	ENST00000367075.3	-	12	1445	c.1277C>A	c.(1276-1278)gCc>gAc	p.A426D	EZR_ENST00000337147.7_Missense_Mutation_p.A426D|EZR_ENST00000392177.4_Missense_Mutation_p.A394D	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	426	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)	p.A426V(1)	EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GGCAATCTTGGCAGTGTATTC	0.572			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	1	Substitution - Missense(1)	endometrium(1)											78	68	72					6																	159190425		2203	4300	6503	SO:0001583	missense	0			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1277C>A	6.37:g.159190425G>T	ENSP00000356042:p.Ala426Asp		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.A426D	ENST00000367075.3	37	c.1277	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061645	0.76187	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83914	-1.78;-1.78;-1.78	5.25	4.32	0.51571	Ezrin/radixin/moesin, C-terminal (1);	0.159132	0.56097	D	0.000032	T	0.75620	0.3874	M	0.74881	2.28	0.80722	D	1	B;B	0.20887	0.003;0.049	B;B	0.30105	0.02;0.111	T	0.72874	-0.4160	10	0.18276	T	0.48	.	15.3032	0.73972	0.0:0.1402:0.8598:0.0	.	394;426	E7EQR4;P15311	.;EZRI_HUMAN	D	426;426;394	ENSP00000338934:A426D;ENSP00000356042:A426D;ENSP00000376016:A394D	ENSP00000338934:A426D	A	-	2	0	EZR	159110413	1.000000	0.71417	0.971000	0.41717	0.996000	0.88848	6.439000	0.73430	2.455000	0.83008	0.561000	0.74099	GCC	EZR	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000092820		0.572	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1		0	21	0	G	NM_003379		159190425	-1			no_errors	ENST00000337147	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.979	T	T	159190425	G	T	159190425	3	4	59	1	0	0	0	0	1	0	0	0	5351	1203	42	3	495	3	EZR	6	159190425	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6452289	159190425	11924642	167	16875											
FRMD1	79981	genome.wustl.edu	37	chr6	168475955	168475955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaggccaaagaactgcgCgtctctgatgctcgccacgt	10	7	11	13	4	1	3	0	1	1	2	3	3	1	3	2	1	3	1	2	1	2	0	rs528646808		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr6:168475955C>T	ENST00000283309.6	-	2	338	c.274G>A	c.(274-276)Gcg>Acg	p.A92T	FRMD1_ENST00000440994.2_Missense_Mutation_p.A24T	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	92	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AAGAACTGCGCGTCTCTGATG	0.622													C|||	1	0.000199681	0	0	5008	,	,		22937	0.001		0	False		,,,				2504	0				GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												0													98	91	93					6																	168475955		2203	4300	6503	SO:0001583	missense	0				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.274G>A	6.37:g.168475955C>T	ENSP00000283309:p.Ala92Thr		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.A92T	ENST00000283309.6	37	c.274	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	C	0.381	-0.928711	0.02359	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000511714	T;T;T	0.75050	-0.9;-0.9;-0.9	2.16	-1.45	0.08828	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.277119	0.23815	U	0.044291	T	0.31071	0.0785	N	0.17082	0.46	0.54753	D	0.999989	B;B	0.18166	0.026;0.021	B;B	0.19391	0.025;0.014	T	0.03139	-1.1068	10	0.23302	T	0.38	.	5.3078	0.15813	0.0:0.5514:0.2866:0.162	.	92;24	Q8N878;Q8N878-2	FRMD1_HUMAN;.	T	92;24;134	ENSP00000283309:A92T;ENSP00000414115:A24T;ENSP00000424439:A134T	ENSP00000283309:A92T	A	-	1	0	FRMD1	168218804	0.002000	0.14202	0.463000	0.27130	0.061000	0.15899	-0.969000	0.03813	-0.116000	0.11893	-0.752000	0.03492	GCG	FRMD1	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000153303		0.622	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	HGNC	protein_coding	OTTHUMT00000362513.2	-	0	10	0	C	NM_024919		168475955	-1	tier1	-	no_errors	ENST00000283309	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.758	T	T	168475955	C	T	168475955	3	4	59	1	0	0	0	0	1	0	0	0	6073	768	27	1	1415	1	FRMD1	6	168475955	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	9285530	168475955	2639112	168	16876											
SUN1	23353	genome.wustl.edu	37	chr7	881709	881709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggatgctgtgactcgacgGcctcctgtattggacgagtc	7	10	13	11	3	0	1	0	1	0	0	3	5	1	3	2	3	1	2	2	3	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:881709G>T	ENST00000405266.1	+	3	417	c.393G>T	c.(391-393)cgG>cgT	p.R131R	SUN1_ENST00000425407.2_Silent_p.R81R|SUN1_ENST00000456758.2_Silent_p.R189R|SUN1_ENST00000403868.1_Silent_p.R131R|SUN1_ENST00000452783.2_Silent_p.R131R|SUN1_ENST00000457378.2_Silent_p.R152R|SUN1_ENST00000389574.3_Silent_p.R81R|SUN1_ENST00000401592.1_Silent_p.R131R|SUN1_ENST00000469755.1_3'UTR			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	131	LMNA-binding.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGACTCGACGGCCTCCTGTAT	0.567																																																	0													79	81	80					7																	881709		2084	4216	6300	SO:0001819	synonymous_variant	0			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"Sad1 unc-84 domain protein 1"	607723	"unc-84 homolog A (C. elegans)"	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.393G>T	7.37:g.881709G>T			A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Silent	SNP	pfam_SUN1,pfam_Sad1_UNC_C	p.R189	ENST00000405266.1	37	c.567		7																																																																																			SUN1	-	pfam_SUN1	ENSG00000164828		0.567	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	SUN1	HGNC	protein_coding	OTTHUMT00000322566.1	-	0	52	0	G	NM_025154		881709	1	tier1	-	no_errors	ENST00000456758	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.005	T	T	881709	G	T	881709	2	4	59	1	0	0	0	0	0	0	0	1	15438	1190	42	3		3	SUN1	7	881709	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		881709	158256954	169	16877											
FOXK1	221937	genome.wustl.edu	37	chr7	4799119	4799119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtcagggtggtcaccaCatctgccaactcggccaacg	9	7	11	14	2	3	0	2	0	1	0	4	0	3	0	3	4	3	0	3	4	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:4799119C>T	ENST00000328914.4	+	7	1589	c.1589C>T	c.(1588-1590)aCa>aTa	p.T530I	FOXK1_ENST00000446823.1_Missense_Mutation_p.T367I	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTGGTCACCACATCTGCCAAC	0.692																																																	0													37	29	32					7																	4799119		2191	4295	6486	SO:0001583	missense	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1589C>T	7.37:g.4799119C>T	ENSP00000328720:p.Thr530Ile			Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.T530I	ENST00000328914.4	37	c.1589	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462366	0.43736	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.95788	-3.45;-3.81	5.65	2.71	0.32032	.	0.500214	0.22262	N	0.062388	D	0.91925	0.7443	L	0.46157	1.445	0.28393	N	0.919	P;P	0.49961	0.93;0.664	B;B	0.39068	0.289;0.277	D	0.84001	0.0343	10	0.19147	T	0.46	.	16.4709	0.84112	0.0:0.481:0.519:0.0	.	530;367	P85037;P85037-2	FOXK1_HUMAN;.	I	367;286;530;413	ENSP00000394442:T367I;ENSP00000328720:T530I	ENSP00000328720:T530I	T	+	2	0	FOXK1	4765645	0.570000	0.26651	0.331000	0.25455	0.714000	0.41099	1.154000	0.31688	0.355000	0.24131	0.655000	0.94253	ACA	FOXK1	-	NULL	ENSG00000164916		0.692	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	-	0	61	0	C			4799119	1	tier1	-	no_errors	ENST00000328914	ensembl	human	known	74_37	missense	33.78	49	25	SNP	0.366	T	T	4799119	C	T	4799119	3	4	59	1	0	0	0	0	1	0	0	0	6038	478	17	3	1615	3	FOXK1	7	4799119	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	3917410	4799119	154339544	170	16878											
DNAH11	8701	genome.wustl.edu	37	chr7	21857862	21857862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgccattgaaactgctttGgcctttggtgatgtcatctt	8	16	9	8	0	2	2	1	2	1	0	2	2	2	2	2	2	3	1	2	2	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:21857862G>T	ENST00000409508.3	+	65	10627	c.10596G>T	c.(10594-10596)ttG>ttT	p.L3532F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L3539F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3539	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAACTGCTTTGGCCTTTGGTG	0.333									Kartagener syndrome																																								0													95	86	89					7																	21857862		1832	4080	5912	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10596G>T	7.37:g.21857862G>T	ENSP00000475939:p.Leu3532Phe		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3539F	ENST00000409508.3	37	c.10617		7	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508601	0.44660	.	.	ENSG00000105877	ENST00000328843	T	0.27256	1.68	5.48	4.61	0.57282	.	0.427890	0.23135	N	0.051530	T	0.24661	0.0598	.	.	.	0.37766	D	0.926507	B	0.12630	0.006	B	0.20384	0.029	T	0.09997	-1.0649	9	0.87932	D	0	.	12.3178	0.54966	0.1406:0.0:0.8594:0.0	.	3539	Q96DT5	DYH11_HUMAN	F	3539	ENSP00000330671:L3539F	ENSP00000330671:L3539F	L	+	3	2	DNAH11	21824387	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	0.762000	0.26503	1.334000	0.45468	0.644000	0.83932	TTG	DNAH11	-	NULL	ENSG00000105877		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0	46	0	G	NM_003777		21857862	1			no_errors	ENST00000328843	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T	T	21857862	G	T	21857862	3	4	59	1	0	0	0	0	1	0	0	0	4613	1339	47	3	10876	3	DNAH11	7	21857862	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	17058743	21857862	137280801	171	16879											
CDCA7L	55536	genome.wustl.edu	37	chr7	21946041	21946041	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catacgccgcgtgatctgtcCctccgagaaggcccgcctca	7	7	10	17	5	2	2	1	1	1	1	4	3	4	2	5	1	1	0	5	1	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:21946041C>G	ENST00000406877.3	-	6	1066	c.787G>C	c.(787-789)Gga>Cga	p.G263R	CDCA7L_ENST00000373934.4_Missense_Mutation_p.G217R|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.G229R	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	263					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GTGATCTGTCCCTCCGAGAAG	0.542																																																	0													85	97	93					7																	21946041		2203	4300	6503	SO:0001583	missense	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.787G>C	7.37:g.21946041C>G	ENSP00000383986:p.Gly263Arg		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.G263R	ENST00000406877.3	37	c.787	CCDS5374.1	7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418764	0.83559	.	.	ENSG00000164649	ENST00000356195;ENST00000406877;ENST00000373934	T;T;T	0.46451	0.87;0.87;0.89	5.82	5.82	0.92795	.	0.111999	0.64402	D	0.000009	T	0.60418	0.2267	M	0.72118	2.19	0.58432	D	0.999999	P;D;D	0.61080	0.484;0.981;0.989	B;P;P	0.55011	0.142;0.566;0.766	T	0.60969	-0.7157	10	0.56958	D	0.05	-0.7767	20.0953	0.97838	0.0:1.0:0.0:0.0	.	217;263;262	C9K0Y1;Q96GN5;Q96GN5-2	.;CDA7L_HUMAN;.	R	229;263;217	ENSP00000348523:G229R;ENSP00000383986:G263R;ENSP00000363045:G217R	ENSP00000348523:G229R	G	-	1	0	CDCA7L	21912566	1.000000	0.71417	0.994000	0.49952	0.735000	0.41995	6.070000	0.71220	2.767000	0.95098	0.655000	0.94253	GGA	CDCA7L	-	NULL	ENSG00000164649		0.542	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0	47	0	C	NM_018719		21946041	-1			no_errors	ENST00000406877	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	G	G	21946041	C	G	21946041	3	3	59	1	0	0	0	0	1	0	0	0	3098	632	22	5	597	5	CDCA7L	7	21946041	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	88179	21946041	137192622	172	16880											
C7orf10	79783	genome.wustl.edu	37	chr7	40498755	40498755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtataaaactaaccaccttcGggtacacaatagaaaagagc	18	7	7	9	1	0	2	0	0	0	2	1	2	0	2	2	1	4	2	2	1	9	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:40498755G>T	ENST00000335693.4	+	11	988	c.965G>T	c.(964-966)cGg>cTg	p.R322L	C7orf10_ENST00000309930.5_Missense_Mutation_p.R322L|C7orf10_ENST00000401647.2_Missense_Mutation_p.R274L	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		322					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AACCACCTTCGGGTACACAAT	0.284																																																	0													49	50	50					7																	40498755		1790	4061	5851	SO:0001583	missense	0																														ENST00000335693.4:c.965G>T	7.37:g.40498755G>T	ENSP00000338475:p.Arg322Leu		A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.R322L	ENST00000335693.4	37	c.965	CCDS55105.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.331749|4.331749	0.81801|0.81801	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000309930;ENST00000401647;ENST00000335693	.|D;D;D	.|0.82984	.|-1.67;-1.67;-1.67	5.37|5.37	5.37|5.37	0.77165|0.77165	.|CoA-transferase family III domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92404|0.92404	0.7589|0.7589	M|M	0.90309|0.90309	3.105|3.105	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;1.0;1.0	D|D	0.93505|0.93505	0.6848|0.6848	5|10	.|0.87932	.|D	.|0	-14.3559|-14.3559	14.9906|14.9906	0.71384|0.71384	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|274;322;285	.|Q4KMW8;Q9HAC7;Q9HAC7-2	.|.;CG010_HUMAN;.	W|L	317|322;274;322	.|ENSP00000312054:R322L;ENSP00000385222:R274L;ENSP00000338475:R322L	.|ENSP00000312054:R322L	G|R	+|+	1|2	0|0	C7orf10|C7orf10	40465280|40465280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.460000|5.460000	0.66691|0.66691	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	GGG|CGG	C7orf10	-	superfamily_CoA-Trfase_III_dom	ENSG00000175600		0.284	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	-	0	49	0	G			40498755	1	tier1	-	no_errors	ENST00000309930	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	T	T	40498755	G	T	40498755	3	4	59	1	0	0	0	0	1	0	0	0	2383	1116	39	2	896	2	C7orf10	7	40498755	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	18552714	40498755	118639908	173	16881											
SEPT14	346288	genome.wustl.edu	37	chr7	55910813	55910813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctatgtagtcaactattGgttggtagctaaaaaaaaat	16	13	7	5	0	2	0	1	0	1	0	2	0	2	0	0	2	2	4	0	2	10	7			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:55910813G>T	ENST00000388975.3	-	5	496	c.380C>A	c.(379-381)cCa>cAa	p.P127Q	SEPT14_ENST00000477628.1_5'Flank	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	127	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCAACTATTGGTTGGTAGCT	0.353																																																	0													73	65	67					7																	55910813		1837	4090	5927	SO:0001583	missense	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.380C>A	7.37:g.55910813G>T	ENSP00000373627:p.Pro127Gln		A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.P127Q	ENST00000388975.3	37	c.380	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	g	12.74	2.028857	0.35797	.	.	ENSG00000154997	ENST00000388975	T	0.54866	0.55	4.32	3.44	0.39384	.	0.115254	0.37219	N	0.002188	T	0.69913	0.3164	M	0.77406	2.37	0.32805	D	0.500637	D	0.76494	0.999	D	0.78314	0.991	T	0.78526	-0.2170	10	0.87932	D	0	.	10.9331	0.47230	0.0971:0.0:0.9029:0.0	.	127	Q6ZU15	SEP14_HUMAN	Q	127	ENSP00000373627:P127Q	ENSP00000373627:P127Q	P	-	2	0	SEPT14	55878307	1.000000	0.71417	0.854000	0.33618	0.076000	0.17211	3.978000	0.56881	1.099000	0.41499	0.650000	0.86243	CCA	SEPT14	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000154997		0.353	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2		0	25	0	G	NM_207366		55910813	-1			no_errors	ENST00000388975	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	T	T	55910813	G	T	55910813	3	4	59	1	0	0	0	0	1	0	0	0	14108	1348	47	3	942	3	SEPT14	7	55910813	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	15412058	55910813	103227850	174	16882											
MRPS17	51373	genome.wustl.edu	37	chr7	56022767	56022767	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatagatccagtgacaGgaaagccctgtgctggaact	13	8	11	9	0	1	2	1	1	0	1	2	4	2	4	2	2	3	1	2	2	4	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:56022767G>T	ENST00000285298.4	+	3	418	c.289G>T	c.(289-291)Gga>Tga	p.G97*	MRPS17_ENST00000426595.1_Nonsense_Mutation_p.G192*	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	97					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCAGTGACAGGAAAGCCCTG	0.458																																																	0													91	91	91					7																	56022767		2203	4300	6503	SO:0001587	stop_gained	0			AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"Mitochondrial ribosomal proteins / small subunits"	14047	protein-coding gene	gene with protein product	"28S ribosomal protein S17, mitochondrial"	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.289G>T	7.37:g.56022767G>T	ENSP00000285298:p.Gly97*		Q86X15	Nonsense_Mutation	SNP	pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold	p.G97*	ENST00000285298.4	37	c.289	CCDS5520.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.740746	0.99597	.	.	ENSG00000249773;ENSG00000239789;ENSG00000239789	ENST00000426595;ENST00000285298;ENST00000443449	.	.	.	4.84	3.97	0.46021	.	0.097576	0.45361	D	0.000371	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	12.4406	0.55623	0.0805:0.0:0.9195:0.0	.	.	.	.	X	192;97;97	.	ENSP00000285298:G97X	G	+	1	0	MRPS17;RP11-15K19.2	55990261	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	7.341000	0.79300	1.268000	0.44264	0.655000	0.94253	GGA	MRPS17	-	superfamily_NA-bd_OB-fold	ENSG00000239789		0.458	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS17	HGNC	protein_coding	OTTHUMT00000251527.2		0	15	0	G	NM_015969		56022767	1			no_errors	ENST00000285298	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	0.999	T	T	56022767	G	T	56022767	4	4	59	1	0	0	0	0	0	1	0	0	9865	1001	35	3	295	3	MRPS17	7	56022767	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	111954	56022767	103115896	175	16883											
FZD9	8326	genome.wustl.edu	37	chr7	72849881	72849881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcatgctcaaaatttTcatgtcactggtggtgggga	8	14	12	7	0	5	0	4	0	1	0	5	1	5	1	0	5	1	1	0	5	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:72849881T>C	ENST00000344575.3	+	1	1773	c.1544T>C	c.(1543-1545)tTc>tCc	p.F515S		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	515					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTCAAAATTTTCATGTCACTG	0.657																																					Pancreas(144;909 1878 36867 38226 39554)												0													40	43	42					7																	72849881		2203	4300	6503	SO:0001583	missense	0			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1544T>C	7.37:g.72849881T>C	ENSP00000345785:p.Phe515Ser			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F515S	ENST00000344575.3	37	c.1544	CCDS5548.1	7	.	.	.	.	.	.	.	.	.	.	T	19.76	3.888394	0.72524	.	.	ENSG00000188763	ENST00000344575	D	0.84442	-1.85	5.12	5.12	0.69794	GPCR, family 2-like (1);	0.000000	0.85682	U	0.000000	D	0.91178	0.7221	M	0.80422	2.495	0.80722	D	1	P	0.50156	0.932	P	0.59546	0.859	D	0.92221	0.5784	10	0.66056	D	0.02	.	14.0952	0.65016	0.0:0.0:0.0:1.0	.	515	O00144	FZD9_HUMAN	S	515	ENSP00000345785:F515S	ENSP00000345785:F515S	F	+	2	0	FZD9	72487817	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	1.927000	0.55829	0.460000	0.39030	TTC	FZD9	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000188763		0.657	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD9	HGNC	protein_coding	OTTHUMT00000252120.1	-	0	15	0	T			72849881	1	tier1	-	no_errors	ENST00000344575	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	C	C	72849881	T	C	72849881	3	2	59	1	0	0	0	0	1	0	0	0	6161	1783	62	4	1546	4	FZD9	7	72849881	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	16827114	72849881	86288782	176	16884											
HIP1	3092	genome.wustl.edu	37	chr7	75174482	75174482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaactctttaggggatgctGtaccctagggaaataaaaaa	17	9	9	6	0	1	0	0	0	1	0	1	2	1	2	1	3	3	2	1	3	9	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:75174482G>T	ENST00000336926.6	-	26	2590	c.2564C>A	c.(2563-2565)aCa>aAa	p.T855K	HIP1_ENST00000434438.2_Missense_Mutation_p.T804K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	855	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGGGGATGCTGTACCCTAGGG	0.423			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													100	105	103					7																	75174482		2203	4300	6503	SO:0001583	missense	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2564C>A	7.37:g.75174482G>T	ENSP00000336747:p.Thr855Lys		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.T855K	ENST00000336926.6	37	c.2564	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	g	26.9	4.779736	0.90195	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.29397	1.57;1.57	5.6	5.6	0.85130	I/LWEQ (4);	0.045918	0.85682	D	0.000000	T	0.39655	0.1086	L	0.39397	1.21	0.49687	D	0.999811	B;B	0.34399	0.452;0.105	P;B	0.45913	0.497;0.149	T	0.10753	-1.0616	10	0.41790	T	0.15	-17.2273	18.1668	0.89731	0.0:0.0:1.0:0.0	.	804;855	E7ES17;O00291	.;HIP1_HUMAN	K	855;804	ENSP00000336747:T855K;ENSP00000410300:T804K	ENSP00000336747:T855K	T	-	2	0	HIP1	75012418	1.000000	0.71417	0.967000	0.41034	0.996000	0.88848	9.432000	0.97498	2.644000	0.89710	0.655000	0.94253	ACA	HIP1	-	pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom	ENSG00000127946		0.423	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2		0	33	0	G	NM_005338		75174482	-1			no_errors	ENST00000336926	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	75174482	G	T	75174482	3	4	59	1	0	0	0	0	1	0	0	0	7141	1377	48	3	573	3	HIP1	7	75174482	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2324601	75174482	83964181	177	16885											
PCLO	27445	genome.wustl.edu	37	chr7	82578830	82578830	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaaaggagccctggaacTttcgtctgctgttggactca	9	11	11	10	1	2	1	1	1	1	0	3	4	2	4	1	3	3	2	1	3	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:82578830T>G	ENST00000333891.9	-	6	11411	c.11074A>C	c.(11074-11076)Agt>Cgt	p.S3692R	PCLO_ENST00000423517.2_Missense_Mutation_p.S3692R|PCLO_ENST00000437081.1_Missense_Mutation_p.S412R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCTGGAACTTTCGTCTGCT	0.463																																																	0													194	188	190					7																	82578830		1925	4138	6063	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11074A>C	7.37:g.82578830T>G	ENSP00000334319:p.Ser3692Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S3692R	ENST00000333891.9	37	c.11074	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261832	0.39995	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17854	2.25;2.25	5.92	4.74	0.60224	.	.	.	.	.	T	0.16981	0.0408	L	0.45228	1.405	0.36286	D	0.856099	B;B;B	0.13145	0.002;0.007;0.007	B;B;B	0.09377	0.003;0.004;0.004	T	0.05084	-1.0907	9	0.87932	D	0	.	12.4032	0.55424	0.0:0.0:0.2653:0.7347	.	3623;3692;3692	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	R	3623;3692;3692;412	ENSP00000334319:S3692R;ENSP00000388393:S3692R	ENSP00000334319:S3692R	S	-	1	0	PCLO	82416766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.115000	0.50391	1.026000	0.39733	0.528000	0.53228	AGT	PCLO	-	NULL	ENSG00000186472		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	28	0	T	NM_014510		82578830	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	G	G	82578830	T	G	82578830	3	3	59	1	0	0	0	0	1	0	0	0	11622	1609	56	4	4451	4	PCLO	7	82578830	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	7404348	82578830	76559833	178	16886											
PCLO	27445	genome.wustl.edu	37	chr7	82791891	82791891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagcccttccccttccaaGctcgcctcgttgcccatggc	4	9	10	18	2	0	0	0	0	0	0	4	1	2	1	6	2	3	2	6	2	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:82791891G>T	ENST00000333891.9	-	1	355	c.18C>A	c.(16-18)agC>agA	p.S6R	PCLO_ENST00000423517.2_Missense_Mutation_p.S6R	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCCTTCCAAGCTCGCCTCGT	0.751																																																	0													5	6	5					7																	82791891		1804	3941	5745	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.18C>A	7.37:g.82791891G>T	ENSP00000334319:p.Ser6Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S6R	ENST00000333891.9	37	c.18	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959745	0.34565	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.28895	1.59;1.61	4.33	4.33	0.51752	.	.	.	.	.	T	0.39145	0.1067	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.24870	-1.0148	9	0.87932	D	0	.	9.1389	0.36890	0.1706:0.0:0.8294:0.0	.	6;6	Q9Y6V0-5;Q9Y6V0-6	.;.	R	6	ENSP00000334319:S6R;ENSP00000388393:S6R	ENSP00000334319:S6R	S	-	3	2	PCLO	82629827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.876000	0.63079	2.228000	0.72767	0.555000	0.69702	AGC	PCLO	-	NULL	ENSG00000186472		0.751	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	20	0	G	NM_014510		82791891	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	T	T	82791891	G	T	82791891	3	4	59	1	0	0	0	0	1	0	0	0	11622	962	34	3	15527	3	PCLO	7	82791891	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	213061	82791891	76346772	179	16887											
ZNF804B	219578	genome.wustl.edu	37	chr7	88966323	88966323	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaagtgaaagaggccttaAatgtgtccacacacttgaac	15	9	9	8	0	0	4	0	3	0	1	1	4	1	4	2	1	1	0	2	1	5	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:88966323A>C	ENST00000333190.4	+	4	4636	c.4027A>C	c.(4027-4029)Aat>Cat	p.N1343H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1343							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAGGCCTTAAATGTGTCCAC	0.358										HNSCC(36;0.09)																																							0													53	54	54					7																	88966323		2201	4298	6499	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.4027A>C	7.37:g.88966323A>C	ENSP00000329638:p.Asn1343His		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.N1343H	ENST00000333190.4	37	c.4027	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	16.42	3.119013	0.56505	.	.	ENSG00000182348	ENST00000333190	T	0.06933	3.24	5.2	5.2	0.72013	.	0.251241	0.35555	N	0.003129	T	0.21145	0.0509	L	0.57536	1.79	0.28897	N	0.893492	D	0.76494	0.999	D	0.64042	0.921	T	0.02294	-1.1181	10	0.66056	D	0.02	-22.0225	10.7254	0.46066	0.9231:0.0:0.0768:0.0	.	1343	A4D1E1	Z804B_HUMAN	H	1343	ENSP00000329638:N1343H	ENSP00000329638:N1343H	N	+	1	0	ZNF804B	88804259	0.994000	0.37717	0.997000	0.53966	0.930000	0.56654	3.431000	0.52814	2.302000	0.77476	0.533000	0.62120	AAT	ZNF804B	-	NULL	ENSG00000182348		0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	15	0	A	NM_181646		88966323	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	38.89	11	7	SNP	1.000	C	C	88966323	A	C	88966323	3	2	59	1	0	0	0	0	1	0	0	0	18219	14	1	4	4041	4	ZNF804B	7	88966323	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	6174432	88966323	70172340	180	16888											
CYP51A1	1595	genome.wustl.edu	37	chr7	91743071	91743071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagtatccatcaatgaGatcaaattcatataaacgaa	19	9	7	6	1	3	1	3	1	0	1	4	4	4	2	1	1	1	1	1	1	8	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:91743071G>T	ENST00000003100.8	-	10	1603	c.1438C>A	c.(1438-1440)Ctc>Atc	p.L480I	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.L375I	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	474					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)	p.L480F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CCATCAATGAGATCAAATTCA	0.343																																					GBM(70;1100 1190 11592 25836 51397)												1	Substitution - Missense(1)	skin(1)											110	108	108					7																	91743071		2203	4300	6503	SO:0001583	missense	0			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1438C>A	7.37:g.91743071G>T	ENSP00000003100:p.Leu480Ile		A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.L480I	ENST00000003100.8	37	c.1438	CCDS5623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.198121|4.198121	0.79015|0.79015	.|.	.|.	ENSG00000001630|ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000450723|ENST00000422867	T;T|.	0.69561|.	-0.41;-0.41|.	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76463|0.76463	0.3991|0.3991	M|M	0.83852|0.83852	2.665|2.665	0.80722|0.80722	D|D	1|1	D;D|.	0.62365|.	0.988;0.991|.	D;D|.	0.71870|.	0.966;0.975|.	T|T	0.78214|0.78214	-0.2291|-0.2291	10|5	0.54805|.	T|.	0.06|.	.|.	13.0486|13.0486	0.58942|0.58942	0.077:0.0:0.923:0.0|0.077:0.0:0.923:0.0	.|.	420;474|.	B3KRC6;Q16850|.	.;CP51A_HUMAN|.	I|Y	480;420;375|192	ENSP00000003100:L480I;ENSP00000406757:L375I|.	ENSP00000003100:L480I|.	L|S	-|-	1|2	0|0	CYP51A1|CYP51A1	91581007|91581007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.527000|6.527000	0.73803|0.73803	2.648000|2.648000	0.89879|0.89879	0.591000|0.591000	0.81541|0.81541	CTC|TCT	CYP51A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000001630		0.343	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP51A1	HGNC	protein_coding	OTTHUMT00000253812.4		0	22	0	G			91743071	-1			no_errors	ENST00000003100	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	91743071	G	T	91743071	3	4	59	1	0	0	0	0	1	0	0	0	4204	942	33	3	95	3	CYP51A1	7	91743071	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2776748	91743071	67395592	181	16889											
SLC25A13	10165	genome.wustl.edu	37	chr7	95906517	95906517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aataaacatacccatctttgGtctgatccaccactccactt	12	12	3	14	0	2	1	0	1	2	0	4	1	4	1	4	1	2	0	4	1	4	4	rs148573021		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:95906517G>T	ENST00000265631.5	-	3	339	c.203C>A	c.(202-204)aCc>aAc	p.T68N	SLC25A13_ENST00000416240.2_Missense_Mutation_p.T68N|SLC25A13_ENST00000542654.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	68	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCCATCTTTGGTCTGATCCAC	0.348																																																	0													40	37	38					7																	95906517		2201	4297	6498	SO:0001583	missense	0			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"Solute carriers", "EF-hand domain containing"	10983	protein-coding gene	gene with protein product	"mitochondrial aspartate glutamate carrier 2"	603859	"solute carrier family 25, member 13 (citrin)"	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.203C>A	7.37:g.95906517G>T	ENSP00000265631:p.Thr68Asn		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.T68N	ENST00000265631.5	37	c.203	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	G	16.15	3.043103	0.55003	.	.	ENSG00000004864	ENST00000265631;ENST00000416240	T;T	0.62364	0.03;0.03	5.34	5.34	0.76211	EF-hand-like domain (1);	0.058194	0.64402	D	0.000003	T	0.65585	0.2705	M	0.79475	2.455	0.80722	D	1	B;B	0.27316	0.175;0.175	B;B	0.24394	0.053;0.053	T	0.63941	-0.6523	10	0.36615	T	0.2	-16.1451	19.0346	0.92971	0.0:0.0:1.0:0.0	.	68;68	Q546F9;Q9UJS0	.;CMC2_HUMAN	N	68	ENSP00000265631:T68N;ENSP00000400101:T68N	ENSP00000265631:T68N	T	-	2	0	SLC25A13	95744453	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.228000	0.72288	2.671000	0.90904	0.563000	0.77884	ACC	SLC25A13	-	NULL	ENSG00000004864		0.348	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2		0	35	0	G	NM_014251		95906517	-1			no_errors	ENST00000416240	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	95906517	G	T	95906517	3	4	59	1	0	0	0	0	1	0	0	0	14520	1261	44	3	1891	3	SLC25A13	7	95906517	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4163446	95906517	63232146	182	16890											
ZKSCAN5	23660	genome.wustl.edu	37	chr7	99123486	99123486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaagcagatttctgatGactctgaatcacactgggtg	11	12	11	7	0	3	5	1	4	2	1	3	5	3	5	0	1	1	1	0	1	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:99123486G>T	ENST00000394170.2	+	6	1074	c.823G>T	c.(823-825)Gac>Tac	p.D275Y	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.D275Y|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.D275Y	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	275	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GATTTCTGATGACTCTGAATC	0.438																																																	0													104	106	105					7																	99123486		2203	4300	6503	SO:0001583	missense	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.823G>T	7.37:g.99123486G>T	ENSP00000377725:p.Asp275Tyr		A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D275Y	ENST00000394170.2	37	c.823	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466559	0.26335	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.38077	1.16;1.16;1.16	4.64	4.64	0.57946	Krueppel-associated box (2);	0.498377	0.18447	N	0.140942	T	0.31167	0.0788	L	0.45352	1.415	0.29157	N	0.878014	P;P	0.34462	0.454;0.454	B;B	0.31614	0.133;0.133	T	0.33854	-0.9852	10	0.62326	D	0.03	.	13.206	0.59795	0.0:0.0:1.0:0.0	.	275;275	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	Y	275	ENSP00000322872:D275Y;ENSP00000392104:D275Y;ENSP00000377725:D275Y	ENSP00000322872:D275Y	D	+	1	0	ZKSCAN5	98961422	0.812000	0.29077	0.906000	0.35671	0.573000	0.36030	-0.606000	0.05654	2.590000	0.87494	0.655000	0.94253	GAC	ZKSCAN5	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196652		0.438	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	-	0	31	0	G	NM_014569		99123486	1	tier1	-	no_errors	ENST00000326775	ensembl	human	known	74_37	missense	46.51	23	20	SNP	0.861	T	T	99123486	G	T	99123486	3	4	59	1	0	0	0	0	1	0	0	0	17738	1290	45	3	841	3	ZKSCAN5	7	99123486	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3216969	99123486	60015177	183	16891											
ZNF655	79027	genome.wustl.edu	37	chr7	99158210	99158210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataccagcccaggaagcaGcagggtcaccaagggtccag	14	3	12	12	0	1	0	1	0	0	0	2	1	2	1	4	3	4	2	4	3	4	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:99158210G>T	ENST00000394163.2	+	2	211	c.28G>T	c.(28-30)Gca>Tca	p.A10S	ZNF655_ENST00000493277.1_Missense_Mutation_p.A10S|ZNF655_ENST00000252713.4_Missense_Mutation_p.A10S|ZNF655_ENST00000440391.1_Missense_Mutation_p.A10S|GS1-259H13.10_ENST00000455905.1_Missense_Mutation_p.A10S|ZNF655_ENST00000425063.1_Missense_Mutation_p.A10S|ZNF655_ENST00000320583.5_Missense_Mutation_p.A10S|ZNF655_ENST00000454654.1_Missense_Mutation_p.A10S|ZNF655_ENST00000449244.1_Missense_Mutation_p.A10S|ZNF655_ENST00000357864.2_Missense_Mutation_p.A10S|ZNF655_ENST00000424881.1_Missense_Mutation_p.A10S|GS1-259H13.10_ENST00000486324.1_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	10					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CCAGGAAGCAGCAGGGTCACC	0.488																																																	0													103	99	101					7																	99158210		2203	4300	6503	SO:0001583	missense	0			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.28G>T	7.37:g.99158210G>T	ENSP00000377718:p.Ala10Ser		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A10S	ENST00000394163.2	37	c.28	CCDS5669.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264506	0.80358	.	.	ENSG00000197343	ENST00000320583;ENST00000357864;ENST00000452314;ENST00000252713;ENST00000454654;ENST00000449244;ENST00000425063;ENST00000493277;ENST00000422164;ENST00000422647;ENST00000427931;ENST00000424881;ENST00000440391;ENST00000394163	T;T;T;T;T;T;T;T	0.33216	5.14;3.32;3.39;1.43;1.42;1.43;3.39;3.32	4.39	3.49	0.39957	.	0.162845	0.29362	N	0.012366	T	0.27866	0.0686	L	0.34521	1.04	0.27059	N	0.963603	B;B;B;P	0.52061	0.11;0.028;0.067;0.95	B;B;B;P	0.49502	0.097;0.031;0.045;0.613	T	0.05649	-1.0872	10	0.26408	T	0.33	-14.6898	9.6659	0.39983	0.0:0.0:0.7927:0.2073	.	10;10;10;10	Q8N720-3;A6NGD3;Q8N720;Q8N720-2	.;.;ZN655_HUMAN;.	S	10	ENSP00000322363:A10S;ENSP00000252713:A10S;ENSP00000419135:A10S;ENSP00000389260:A10S;ENSP00000393750:A10S;ENSP00000392244:A10S;ENSP00000393876:A10S;ENSP00000377718:A10S	ENSP00000252713:A10S	A	+	1	0	ZNF655	98996146	0.999000	0.42202	0.998000	0.56505	0.977000	0.68977	1.167000	0.31847	1.399000	0.46721	0.563000	0.77884	GCA	ZNF655	-	NULL	ENSG00000197343		0.488	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ZNF655	HGNC	protein_coding	OTTHUMT00000344929.1	-	0	56	0	G	NM_138494		99158210	1	tier1	-	no_errors	ENST00000424881	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.998	T	T	99158210	G	T	99158210	3	4	59	1	0	0	0	0	1	0	0	0	18116	971	34	3	30	3	ZNF655	7	99158210	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	34724	99158210	59980453	184	16892											
MUC17	140453	genome.wustl.edu	37	chr7	100677506	100677506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagcaccacgccggtaGtcagttctgaggctagaaca	11	7	11	12	2	2	3	1	2	1	1	2	3	2	3	2	2	2	4	2	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:100677506G>C	ENST00000306151.4	+	3	2873	c.2809G>C	c.(2809-2811)Gtc>Ctc	p.V937L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	937	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACGCCGGTAGTCAGTTCTGA	0.507																																																	0													376	326	343					7																	100677506		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2809G>C	7.37:g.100677506G>C	ENSP00000302716:p.Val937Leu		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.V937L	ENST00000306151.4	37	c.2809	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.751284	0.00663	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	1.19	-2.38	0.06622	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41270	-0.9518	9	0.15499	T	0.54	.	2.0373	0.03542	0.2361:0.4229:0.1998:0.1412	.	937	Q685J3	MUC17_HUMAN	L	937	ENSP00000302716:V937L	ENSP00000302716:V937L	V	+	1	0	MUC17	100464226	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.010000	0.01454	-3.620000	0.00131	-1.435000	0.01079	GTC	MUC17	-	NULL	ENSG00000169876		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	72	0	G	NM_001040105		100677506	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	47.69	34	31	SNP	0.000	C	C	100677506	G	C	100677506	3	2	59	1	0	0	0	0	1	0	0	0	10012	1029	36	5	2819	5	MUC17	7	100677506	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1519296	100677506	58461157	185	16893											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113518469	113518469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcacaatggcatccgagTctgttttctttgataattct	10	16	7	8	1	3	1	0	1	3	0	4	2	4	1	1	1	1	3	1	1	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:113518469T>C	ENST00000284601.3	-	4	2746	c.2678A>G	c.(2677-2679)gAc>gGc	p.D893G		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	893					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGCATCCGAGTCTGTTTTCTT	0.368																																																	0													88	85	86					7																	113518469		2203	4299	6502	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2678A>G	7.37:g.113518469T>C	ENSP00000284601:p.Asp893Gly		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.D893G	ENST00000284601.3	37	c.2678	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	1.312	-0.601865	0.03744	.	.	ENSG00000154415	ENST00000284601	T	0.18016	2.24	5.81	1.83	0.25207	.	1.158770	0.06197	N	0.682552	T	0.13030	0.0316	L	0.45581	1.43	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.38628	-0.9652	10	0.16420	T	0.52	-0.4127	1.6004	0.02672	0.3211:0.0749:0.2203:0.3837	.	893	Q16821	PPR3A_HUMAN	G	893	ENSP00000284601:D893G	ENSP00000284601:D893G	D	-	2	0	PPP1R3A	113305705	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.085000	0.11250	0.994000	0.38892	0.528000	0.53228	GAC	PPP1R3A	-	NULL	ENSG00000154415		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0	24	0	T	NM_002711		113518469	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.000	C	C	113518469	T	C	113518469	3	2	59	1	0	0	0	0	1	0	0	0	12413	1667	58	4	694	4	PPP1R3A	7	113518469	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	12840963	113518469	45620194	186	16894											
C7orf58	79974	genome.wustl.edu	37	chr7	120655798	120655798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctttctacagcaaaaCagagcttcagctacaccagc	12	8	6	15	0	2	1	1	0	1	1	3	1	3	1	3	0	7	3	3	0	4	4	rs564333233	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:120655798C>A	ENST00000310396.5	+	3	796	c.329C>A	c.(328-330)aCa>aAa	p.T110K	CPED1_ENST00000450913.2_Missense_Mutation_p.T110K|CPED1_ENST00000340646.5_Missense_Mutation_p.T110K|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	110						endoplasmic reticulum (GO:0005783)											TACAGCAAAACAGAGCTTCAG	0.488													C|||	2	0.000399361	0.0015	0	5008	,	,		17639	0		0	False		,,,				2504	0																0													83	69	74					7																	120655798		2203	4300	6503	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.329C>A	7.37:g.120655798C>A	ENSP00000309772:p.Thr110Lys		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.T110K	ENST00000310396.5	37	c.329	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	C	4.410	0.075794	0.08485	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.84	-11.7	0.00046	.	1.928690	0.02357	N	0.076480	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.17868	-1.0355	10	0.02654	T	1	.	2.2236	0.03979	0.2307:0.0998:0.1615:0.5079	.	110;110	A4D0V7-2;A4D0V7	.;CG058_HUMAN	K	110	ENSP00000309772:T110K;ENSP00000398082:T110K;ENSP00000406122:T110K;ENSP00000345235:T110K	ENSP00000309772:T110K	T	+	2	0	C7orf58	120443034	0.000000	0.05858	0.000000	0.03702	0.179000	0.23085	-4.298000	0.00257	-2.420000	0.00564	0.591000	0.81541	ACA	CPED1	-	NULL	ENSG00000106034		0.488	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	-	0	27	0	C	NM_024913		120655798	1	tier1	-	no_errors	ENST00000310396	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.000	A	A	120655798	C	A	120655798	3	1	59	1	0	0	0	0	1	0	0	0	2412	478	17	3	335	3	C7orf58	7	120655798	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	7137329	120655798	38482865	187	16895											
TRIM24	8805	genome.wustl.edu	37	chr7	138189052	138189052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagttggagtcattcgttgcCcagtttgcagccaagaatgt	9	12	11	9	1	1	1	1	0	0	1	2	2	1	2	2	1	3	4	2	1	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:138189052C>T	ENST00000343526.4	+	2	597	c.382C>T	c.(382-384)Cca>Tca	p.P128S	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.P128S			O15164	TIF1A_HUMAN	tripartite motif containing 24	128					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CATTCGTTGCCCAGTTTGCAG	0.358																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													109	107	108					7																	138189052		2203	4300	6503	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.382C>T	7.37:g.138189052C>T	ENSP00000340507:p.Pro128Ser		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.P128S	ENST00000343526.4	37	c.382	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	24.3	4.510915	0.85389	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	D;D	0.83755	-1.76;-1.75	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.246052	0.38111	N	0.001816	D	0.90010	0.6881	M	0.83774	2.66	0.80722	D	1	D;B	0.56968	0.978;0.383	P;B	0.55615	0.78;0.444	D	0.91461	0.5189	10	0.87932	D	0	-11.3632	18.4584	0.90729	0.0:1.0:0.0:0.0	.	128;128	O15164;O15164-2	TIF1A_HUMAN;.	S	128;128;39;128;86	ENSP00000340507:P128S;ENSP00000390829:P128S	ENSP00000340507:P128S	P	+	1	0	TRIM24	137839592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.292000	0.51772	2.684000	0.91462	0.650000	0.86243	CCA	TRIM24	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000122779		0.358	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	-	0	12	0	C	NM_015905		138189052	1	tier1	-	no_errors	ENST00000343526	ensembl	human	known	74_37	missense	18.52	21	5	SNP	1.000	T	T	138189052	C	T	138189052	3	4	59	1	0	0	0	0	1	0	0	0	16546	623	22	3	388	3	TRIM24	7	138189052	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	17533254	138189052	20949611	188	16896											
ABP1	26	genome.wustl.edu	37	chr7	150556093	150556093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccatggccgaccaggtgCtgcccccaggctggcaggag	7	5	14	15	1	0	0	0	0	0	0	1	2	1	1	5	5	2	3	5	5	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:150556093C>T	ENST00000493429.1	+	5	2397	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	AOC1_ENST00000360937.4_Silent_p.L605L|AOC1_ENST00000416793.2_Silent_p.L605L|AOC1_ENST00000467291.1_Silent_p.L605L|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	605					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.L605M(2)								Amiloride(DB00594)	CGACCAGGTGCTGCCCCCAGG	0.652																																																	2	Substitution - Missense(2)	lung(2)											11	12	12					7																	150556093		1924	4115	6039	SO:0001819	synonymous_variant	0			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"diamine oxidase"	104610	"amiloride binding protein 1 (amine oxidase (copper-containing))"	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1813C>T	7.37:g.150556093C>T			C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L605	ENST00000493429.1	37	c.1813	CCDS43679.1	7																																																																																			AOC1	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000002726		0.652	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AOC1	HGNC	protein_coding	OTTHUMT00000350628.1		0	41	0	C	NM_001091		150556093	1			no_errors	ENST00000416793	ensembl	human	known	74_37	silent	6.00	47	3	SNP	1.000	T	T	150556093	C	T	150556093	2	4	59	1	0	0	0	0	0	0	0	1	98	796	28	3		3	ABP1	7	150556093	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	12367041	150556093	8582570	189	16897											
ATG9B	285973	genome.wustl.edu	37	chr7	150716292	150716292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcagcgggcagcgggccGgcagcaggcctttgttggcc	5	5	19	12	3	0	0	0	0	0	0	0	0	0	0	3	6	3	5	3	6	0	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:150716292G>A	ENST00000377974.2	-	6	1208	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	ATG9B_ENST00000605938.1_Missense_Mutation_p.P378L|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B	378					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCGGGCCGGCAGCAGGCC	0.697																																																	0													6	8	7					7																	150716292		1876	3954	5830	SO:0001583	missense	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.1133C>T	7.37:g.150716292G>A	ENSP00000475005:p.Pro378Leu		A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9	p.P378L	ENST00000377974.2	37	c.1133		7	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087010	0.55861	.	.	ENSG00000248602	ENST00000377974;ENST00000397266	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79639	0.4480	.	.	.	.	.	.	D	0.89917	1.0	D	0.81914	0.995	T	0.81881	-0.0729	7	0.62326	D	0.03	-14.2306	16.665	0.85250	0.0:0.0:1.0:0.0	.	378	Q674R7	ATG9B_HUMAN	L	378	.	ENSP00000444232:P378L	P	-	2	0	AC010973.1	150347225	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	7.895000	0.87343	2.527000	0.85204	0.462000	0.41574	CCG	ATG9B	-	pfam_Autophagy-rel_prot_9	ENSG00000181652		0.697	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		-	0	18	0	G	NM_173681		150716292	-1	tier1	-	no_errors	ENST00000377974	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	150716292	G	A	150716292	3	1	59	1	0	0	0	0	1	0	0	0	1104	1116	39	1	1672	1	ATG9B	7	150716292	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	160199	150716292	8422371	190	16898											
ABCF2	10061	genome.wustl.edu	37	chr7	150915852	150915852	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaccttatcgctcacGaccctctctgtcagtcctga	7	10	5	19	2	3	1	2	1	1	0	6	2	4	1	5	0	0	1	5	0	1	1	rs139539137	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr7:150915852G>T	ENST00000287844.2	-	9	1234	c.1125C>A	c.(1123-1125)gtC>gtA	p.V375V	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Silent_p.V375V	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	375					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATCGCTCACGACCCTCTCTG	0.557																																																	0													134	116	122					7																	150915852		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1125C>A	7.37:g.150915852G>T			O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V375	ENST00000287844.2	37	c.1125	CCDS5923.1	7																																																																																			ABCF2	-	NULL	ENSG00000033050		0.557	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1		0	59	0	G	NM_005692		150915852	-1			no_errors	ENST00000222388	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.741	T	T	150915852	G	T	150915852	2	4	59	1	0	0	0	0	0	0	0	1	66	1045	37	2		2	ABCF2	7	150915852	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	199560	150915852	8222811	191	16899											
MYOM2	9172	genome.wustl.edu	37	chr8	2092797	2092797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggcggggagaagatcgaCgtgacagtgagcgtgtacaa	12	7	16	6	4	0	4	0	2	0	2	1	6	0	4	0	3	2	1	0	3	4	2	rs558116342		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:2092797C>T	ENST00000262113.4	+	37	4431	c.4290C>T	c.(4288-4290)gaC>gaT	p.D1430D	MYOM2_ENST00000523438.1_Silent_p.D855D|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1430	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGAAGATCGACGTGACAGTGA	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		13835	0		0	False		,,,				2504	0																0													107	90	96					8																	2092797		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4290C>T	8.37:g.2092797C>T			Q7Z3Y2	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D1430	ENST00000262113.4	37	c.4290	CCDS5957.1	8																																																																																			MYOM2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000036448		0.587	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	18	0	C	NM_003970		2092797	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	silent	50.00	5	5	SNP	0.197	T	T	2092797	C	T	2092797	2	4	59	1	0	0	0	0	0	0	0	1	10130	535	19	1		1	MYOM2	8	2092797	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09		2092797	144271225	192	16900											
RP1L1	94137	genome.wustl.edu	37	chr8	10465226	10465226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctctataccttctgactCtggctgggcctccccttcag	4	12	9	16	0	4	1	1	1	3	0	5	1	5	1	5	3	1	1	5	3	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:10465226C>T	ENST00000382483.3	-	4	6605	c.6382G>A	c.(6382-6384)Gag>Aag	p.E2128K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2208	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTCTGACTCTGGCTGGGCC	0.622																																																	0													157	171	167					8																	10465226		1882	4091	5973	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6382G>A	8.37:g.10465226C>T	ENSP00000371923:p.Glu2128Lys		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E2128K	ENST00000382483.3	37	c.6382	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	9.878	1.200710	0.22121	.	.	ENSG00000183638	ENST00000382483	T	0.07908	3.15	1.33	1.33	0.21861	.	.	.	.	.	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	P	0.51791	0.948	P	0.48189	0.57	T	0.39961	-0.9588	9	0.16896	T	0.51	.	10.528	0.44960	0.0:1.0:0.0:0.0	.	2128	A6NKC6	.	K	2128	ENSP00000371923:E2128K	ENSP00000371923:E2128K	E	-	1	0	RP1L1	10502636	0.006000	0.16342	0.003000	0.11579	0.011000	0.07611	1.417000	0.34770	1.055000	0.40461	0.484000	0.47621	GAG	RP1L1	-	NULL	ENSG00000183638		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	53	0	C			10465226	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	9.74	176	19	SNP	0.024	T	T	10465226	C	T	10465226	3	4	59	1	0	0	0	0	1	0	0	0	13578	922	32	3	824	3	RP1L1	8	10465226	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	8372429	10465226	135898796	193	16901											
PPP3CC	5533	genome.wustl.edu	37	chr8	22396990	22396990	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcttacagccacagtaGaagcggtagaggcccgggaa	11	5	13	12	2	1	2	0	0	1	2	1	3	1	3	3	3	3	2	3	3	5	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:22396990G>T	ENST00000240139.5	+	13	1657	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	RP11-582J16.4_ENST00000514980.1_RNA|PPP3CC_ENST00000397775.3_Nonsense_Mutation_p.E453*|PPP3CC_ENST00000289963.8_Intron	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	444					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		AGCCACAGTAGAAGCGGTAGA	0.463																																																	0													209	185	193					8																	22396990		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34859.1, CCDS59094.1, CCDS59093.1	8p21.3	2010-03-17	2010-03-05		ENSG00000120910	ENSG00000120910	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9316	protein-coding gene	gene with protein product	"calcineurin A gamma", "protein phosphatase 2B, catalytic subunit, gamma isoform"	114107	"protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform (calcineurin A gamma)", "protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform"			1339277	Standard	NM_005605		Approved	CALNA3, PP2Bgamma	uc011kzi.2	P48454	OTTHUMG00000163802	ENST00000240139.5:c.1330G>T	8.37:g.22396990G>T	ENSP00000240139:p.Glu444*		B4DRT5|Q9BSS6|Q9H4M5	Nonsense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.E444*	ENST00000240139.5	37	c.1330	CCDS34859.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.679642	0.98428	.	.	ENSG00000120910	ENST00000240139;ENST00000397775	.	.	.	5.83	4.0	0.46444	.	0.092183	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-11.7895	15.8733	0.79141	0.0:0.2331:0.7669:0.0	.	.	.	.	X	444;453	.	ENSP00000240139:E444X	E	+	1	0	PPP3CC	22452935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.577000	0.53885	0.767000	0.33267	0.650000	0.86243	GAA	PPP3CC	-	NULL	ENSG00000120910		0.463	PPP3CC-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP3CC	HGNC	protein_coding	OTTHUMT00000375652.1	-	0	90	0	G	NM_005605		22396990	1	tier1	-	no_errors	ENST00000240139	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	22396990	G	T	22396990	4	4	59	1	0	0	0	0	0	1	0	0	12441	943	33	3	1380	3	PPP3CC	8	22396990	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	11931764	22396990	123967032	194	16902											
WRN	7486	genome.wustl.edu	37	chr8	30954306	30954306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaataccggattgtatacGtaactccagaatactgttca	14	12	7	8	2	1	1	1	0	0	1	2	2	2	2	2	1	4	4	2	1	8	8	rs572026265		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:30954306G>A	ENST00000298139.5	+	17	2170	c.1921G>A	c.(1921-1923)Gta>Ata	p.V641I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	641	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.V641L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GATTGTATACGTAACTCCAGA	0.328			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				G|||	1	0.000199681	0	0.0014	5008	,	,		15199	0		0	False		,,,				2504	0				Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	1	Substitution - Missense(1)	endometrium(1)											90	87	88					8																	30954306		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1921G>A	8.37:g.30954306G>A	ENSP00000298139:p.Val641Ile		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.V641I	ENST00000298139.5	37	c.1921	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	1.250	-0.618944	0.03663	.	.	ENSG00000165392	ENST00000298139	T	0.04809	3.55	5.94	-5.61	0.02489	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.554973	0.19048	N	0.124115	T	0.01627	0.0052	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.003	T	0.44742	-0.9308	10	0.02654	T	1	1.0413	1.9316	0.03328	0.3887:0.311:0.1875:0.1128	.	51;641	Q59F09;Q14191	.;WRN_HUMAN	I	641	ENSP00000298139:V641I	ENSP00000298139:V641I	V	+	1	0	WRN	31073848	0.003000	0.15002	0.004000	0.12327	0.130000	0.20726	-0.049000	0.11924	-0.800000	0.04433	-0.295000	0.09555	GTA	WRN	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.328	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1		0	31	0	G			30954306	1			no_errors	ENST00000298139	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.061	A	A	30954306	G	A	30954306	3	1	59	1	0	0	0	0	1	0	0	0	17451	1145	40	1	1983	1	WRN	8	30954306	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	8557316	30954306	115409716	195	16903											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37730471	37730471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcccctgtctacgaGaggccagctttcaattggag	7	9	13	12	1	2	1	1	0	1	1	2	3	2	2	4	4	2	1	4	4	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:37730471G>T	ENST00000330843.4	-	4	1861	c.1849C>A	c.(1849-1851)Ctc>Atc	p.L617I	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	617					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTCTACGAGAGGCCAGCTT	0.517																																																	0													93	88	89					8																	37730471		2203	4300	6503	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1849C>A	8.37:g.37730471G>T	ENSP00000331342:p.Leu617Ile		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.L617I	ENST00000330843.4	37	c.1849	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	8.980	0.975117	0.18736	.	.	ENSG00000156675	ENST00000330843	T	0.11821	2.74	5.8	-6.13	0.02118	.	1.416330	0.04355	N	0.356485	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.37502	-0.9703	10	0.41790	T	0.15	0.0418	8.0689	0.30678	0.1734:0.1013:0.6253:0.1	.	617	Q6WKZ4	RFIP1_HUMAN	I	617	ENSP00000331342:L617I	ENSP00000331342:L617I	L	-	1	0	RAB11FIP1	37849629	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.534000	0.06150	-1.201000	0.02659	-0.740000	0.03531	CTC	RAB11FIP1	-	NULL	ENSG00000156675		0.517	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1		0	35	0	G	NM_025151		37730471	-1			no_errors	ENST00000330843	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.000	T	T	37730471	G	T	37730471	3	4	59	1	0	0	0	0	1	0	0	0	12938	942	33	3	2014	3	RAB11FIP1	8	37730471	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6776165	37730471	108633551	196	16904											
LETM2	137994	genome.wustl.edu	37	chr8	38260109	38260109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcctgtagggcccgaGggatgagatcactgggtctc	7	8	16	10	1	2	1	1	1	1	1	3	4	2	2	2	4	1	2	2	4	1	1	rs140730377	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:38260109G>T	ENST00000379957.4	+	7	1178	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.G304W|LETM2_ENST00000527710.1_Missense_Mutation_p.G137W|LETM2_ENST00000524874.1_Missense_Mutation_p.G303W|LETM2_ENST00000297720.5_Missense_Mutation_p.G256W	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	351	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.G256W(1)|p.G351W(1)		NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TAGGGCCCGAGGGATGAGATC	0.532																																																	2	Substitution - Missense(2)	lung(2)											96	82	87					8																	38260109		2203	4300	6503	SO:0001583	missense	0			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1051G>T	8.37:g.38260109G>T	ENSP00000369291:p.Gly351Trp		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	pfam_LETM1	p.G351W	ENST00000379957.4	37	c.1051		8	.	.	.	.	.	.	.	.	.	.	G	30	5.056857	0.93793	.	.	ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	5.63	5.63	0.86233	LETM1-like (1);	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	H	0.95079	3.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94763	0.7938	10	0.87932	D	0	-14.1134	19.6699	0.95907	0.0:0.0:1.0:0.0	.	148;351;303	B7Z7T4;Q2VYF4;E9PMA4	.;LETM2_HUMAN;.	W	256;303;351;304;137	ENSP00000297720:G256W;ENSP00000431211:G303W;ENSP00000369291:G351W;ENSP00000428765:G304W;ENSP00000434867:G137W	ENSP00000297720:G256W	G	+	1	0	LETM2	38379266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.641000	0.89580	0.655000	0.94253	GGG	LETM2	-	pfam_LETM1	ENSG00000165046		0.532	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	HGNC	protein_coding	OTTHUMT00000381816.1		0	27	0	G	NM_144652		38260109	1			no_errors	ENST00000379957	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	38260109	G	T	38260109	3	4	59	1	0	0	0	0	1	0	0	0	8763	1000	35	3	780	3	LETM2	8	38260109	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	529638	38260109	108103913	197	16905											
PRKDC	5591	genome.wustl.edu	37	chr8	48734226	48734226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttctcactgtctatactgGctgtagaacagtattcaagt	10	14	9	8	0	3	1	2	0	2	1	4	1	3	1	0	2	2	4	0	2	6	6	rs375917051		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:48734226G>T	ENST00000314191.2	-	66	9103	c.9047C>A	c.(9046-9048)gCc>gAc	p.A3016D	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3016D|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3017	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTCTATACTGGCTGTAGAACA	0.398								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													42	43	43					8																	48734226		1834	4087	5921	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9047C>A	8.37:g.48734226G>T	ENSP00000313420:p.Ala3016Asp		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A3016D	ENST00000314191.2	37	c.9047		8	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506778	0.26949	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02472	4.35;4.28	5.4	-2.56	0.06268	PIK-related kinase (1);	0.709020	0.12885	N	0.431079	T	0.02610	0.0079	L	0.36672	1.1	0.22541	N	0.99901	B;B	0.19200	0.015;0.034	B;B	0.18871	0.023;0.023	T	0.45264	-0.9273	10	0.15952	T	0.53	.	12.4583	0.55716	0.827:0.0:0.173:0.0	.	3016;3017	E7EUY0;P78527	.;PRKDC_HUMAN	D	3016	ENSP00000313420:A3016D;ENSP00000345182:A3016D	ENSP00000313420:A3016D	A	-	2	0	PRKDC	48896779	0.975000	0.34042	0.013000	0.15412	0.214000	0.24535	2.312000	0.43726	-0.304000	0.08843	0.650000	0.86243	GCC	PRKDC	-	pfscan_PIK_FAT	ENSG00000253729		0.398	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	36	0	G	NM_001081640		48734226	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.536	T	T	48734226	G	T	48734226	3	4	59	1	0	0	0	0	1	0	0	0	12563	1203	42	3	3424	3	PRKDC	8	48734226	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	10474117	48734226	97629796	198	16906											
SNTG1	54212	genome.wustl.edu	37	chr8	51617305	51617305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctttctagaagtagaacGgatacaggtgagagtctgtg	13	10	12	6	1	2	3	0	1	2	3	2	5	2	4	1	2	3	1	1	2	6	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:51617305G>A	ENST00000522124.1	+	16	1845	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	SNTG1_ENST00000518864.1_Missense_Mutation_p.R395Q|SNTG1_ENST00000276467.5_Missense_Mutation_p.R395Q|SNTG1_ENST00000517473.1_Missense_Mutation_p.R395Q	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	395					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GAAGTAGAACGGATACAGGTG	0.493																																																	0													81	67	72					8																	51617305		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1184G>A	8.37:g.51617305G>A	ENSP00000429842:p.Arg395Gln		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R395Q	ENST00000522124.1	37	c.1184	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756508	0.89843	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.19	5.19	0.71726	.	0.048531	0.85682	D	0.000000	D	0.84871	0.5568	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.945	T	0.82271	-0.0540	10	0.30078	T	0.28	.	18.0775	0.89432	0.0:0.0:1.0:0.0	.	395;395	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	Q	395	ENSP00000429276:R395Q;ENSP00000429842:R395Q;ENSP00000431123:R395Q;ENSP00000276467:R395Q	ENSP00000276467:R395Q	R	+	2	0	SNTG1	51779858	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.141000	0.94612	2.577000	0.86979	0.643000	0.83706	CGG	SNTG1	-	NULL	ENSG00000147481		0.493	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0	23	0	G			51617305	1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A	A	51617305	G	A	51617305	3	1	59	1	0	0	0	0	1	0	0	0	14919	1116	39	1	1238	1	SNTG1	8	51617305	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2883079	51617305	94746717	199	16907											
XKR4	114786	genome.wustl.edu	37	chr8	56015110	56015110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacgtggcgttcacccCgctgcagaactcggaccact	8	6	11	16	5	1	1	1	0	0	1	2	3	1	2	3	2	3	3	3	2	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:56015110C>T	ENST00000327381.6	+	1	162	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	21						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCGTTCACCCCGCTGCAGAAC	0.652																																																	0													29	29	29					8																	56015110		2203	4299	6502	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.62C>T	8.37:g.56015110C>T	ENSP00000328326:p.Pro21Leu		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.P21L	ENST00000327381.6	37	c.62	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141854	0.37825	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84298	-1.83	2.83	2.83	0.33086	.	0.576281	0.14565	N	0.311813	T	0.68329	0.2989	N	0.19112	0.55	0.49798	D	0.999822	P	0.43094	0.799	B	0.22880	0.042	T	0.71024	-0.4712	10	0.52906	T	0.07	-17.3018	11.1218	0.48296	0.0:1.0:0.0:0.0	.	21	Q5GH76	XKR4_HUMAN	L	21	ENSP00000328326:P21L	ENSP00000328326:P21L	P	+	2	0	XKR4	56177664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.212000	0.51145	1.436000	0.47453	0.549000	0.68633	CCG	XKR4	-	NULL	ENSG00000206579		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	19	0	C	NM_052898		56015110	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	41.18	10	7	SNP	1.000	T	T	56015110	C	T	56015110	3	4	59	1	0	0	0	0	1	0	0	0	17482	652	23	1	64	1	XKR4	8	56015110	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4397805	56015110	90348912	200	16908											
TOX	9760	genome.wustl.edu	37	chr8	60031543	60031543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtggataaaatcttacgtCcatttcactctcacatcaag	13	12	6	10	1	4	0	3	0	2	0	6	1	5	1	1	2	1	0	1	2	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:60031543C>A	ENST00000361421.1	-	1	224	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	RP11-25K19.1_ENST00000517898.1_RNA|RP11-25K19.1_ENST00000518993.1_RNA|RP11-25K19.1_ENST00000523683.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	2						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AATCTTACGTCCATTTCACTC	0.502																																					Pancreas(161;610 1969 17913 21374 22725)												0													62	63	62					8																	60031543		2203	4300	6503	SO:0001583	missense	0				CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.4G>T	8.37:g.60031543C>A	ENSP00000354842:p.Asp2Tyr		Q96AV5	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.D2Y	ENST00000361421.1	37	c.4	CCDS34897.1	8	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008095	0.54361	.	.	ENSG00000198846	ENST00000361421	T	0.21543	2.0	4.64	4.64	0.57946	.	0.136173	0.33631	N	0.004720	T	0.23532	0.0569	L	0.39898	1.24	0.49051	D	0.999744	P	0.35844	0.524	B	0.40444	0.329	T	0.03051	-1.1078	9	.	.	.	.	17.8762	0.88826	0.0:1.0:0.0:0.0	.	2	O94900	TOX_HUMAN	Y	2	ENSP00000354842:D2Y	.	D	-	1	0	TOX	60194097	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	5.377000	0.66184	2.281000	0.76405	0.561000	0.74099	GAC	TOX	-	NULL	ENSG00000198846		0.502	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX	HGNC	protein_coding	OTTHUMT00000378307.1	-	0	25	0	C	NM_014729		60031543	-1	tier1	-	no_errors	ENST00000361421	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	A	A	60031543	C	A	60031543	3	1	59	1	0	0	0	0	1	0	0	0	16425	855	30	3	1612	3	TOX	8	60031543	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4016433	60031543	86332479	201	16909											
KIAA1429	25962	genome.wustl.edu	37	chr8	95539448	95539448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtacaagctccctgtCatatggatcatatgtcatag	11	12	10	8	0	3	0	3	0	0	0	4	2	4	1	1	2	2	2	1	2	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:95539448C>A	ENST00000297591.5	-	8	1099	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D342Y|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D342Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	342					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGCTCCCTGTCATATGGATCA	0.368																																																	0													100	99	100					8																	95539448		2203	4300	6503	SO:0001583	missense	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1024G>T	8.37:g.95539448C>A	ENSP00000297591:p.Asp342Tyr		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D342Y	ENST00000297591.5	37	c.1024	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786422	0.70337	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46819	0.86;0.86;0.86	5.7	5.7	0.88788	.	0.171148	0.51477	D	0.000093	T	0.55130	0.1901	L	0.36672	1.1	0.58432	D	0.999999	P;P	0.51537	0.946;0.946	P;P	0.53809	0.735;0.735	T	0.56366	-0.7991	10	0.72032	D	0.01	-14.5418	19.8292	0.96628	0.0:1.0:0.0:0.0	.	342;342	Q69YN4-4;Q69YN4	.;VIR_HUMAN	Y	342	ENSP00000297591:D342Y;ENSP00000395600:D342Y;ENSP00000398390:D342Y	ENSP00000297591:D342Y	D	-	1	0	KIAA1429	95608624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.689000	0.91719	0.491000	0.48974	GAC	KIAA1429	-	NULL	ENSG00000164944		0.368	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2		0	28	0	C	NM_015496		95539448	-1			no_errors	ENST00000297591	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	95539448	C	A	95539448	3	1	59	1	0	0	0	0	1	0	0	0	8258	826	29	3	4536	3	KIAA1429	8	95539448	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	35507905	95539448	50824574	202	16910											
MATN2	4147	genome.wustl.edu	37	chr8	98943561	98943561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacagatgggagacctcagGactccgtggccgaggtggct	8	7	16	10	2	1	3	1	1	0	2	2	6	2	4	3	5	0	1	3	5	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:98943561G>T	ENST00000520016.1	+	2	647	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	MATN2_ENST00000521689.1_Missense_Mutation_p.D175Y|MATN2_ENST00000254898.5_Missense_Mutation_p.D175Y|MATN2_ENST00000524308.1_Missense_Mutation_p.D175Y|MATN2_ENST00000522025.2_Intron			O00339	MATN2_HUMAN	matrilin 2	175	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GAGACCTCAGGACTCCGTGGC	0.577																																																	0													38	43	41					8																	98943561		2126	4245	6371	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.523G>T	8.37:g.98943561G>T	ENSP00000430487:p.Asp175Tyr		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.D175Y	ENST00000520016.1	37	c.523	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645705	0.87958	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.82	5.82	0.92795	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000003	D	0.95868	0.8655	H	0.98155	4.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96940	0.9687	10	0.87932	D	0	-39.4371	20.1001	0.97870	0.0:0.0:1.0:0.0	.	175;175;175;175	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	Y	175	ENSP00000429977:D175Y;ENSP00000254898:D175Y;ENSP00000430221:D175Y;ENSP00000430487:D175Y	ENSP00000254898:D175Y	D	+	1	0	MATN2	99012737	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.807000	0.99171	2.760000	0.94817	0.655000	0.94253	GAC	MATN2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000132561		0.577	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1		0	26	0	G			98943561	1			no_errors	ENST00000254898	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	98943561	G	T	98943561	3	4	59	1	0	0	0	0	1	0	0	0	9372	1174	41	3	529	3	MATN2	8	98943561	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3404113	98943561	47420461	203	16911											
WDR67	93594	genome.wustl.edu	37	chr8	124154635	124154635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtagccaaactccttaGggaaaacagaaggaaagaaa	20	4	11	6	0	0	2	0	0	0	2	1	5	1	5	2	3	3	1	2	3	9	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:124154635G>T	ENST00000287380.1	+	19	2864	c.2774G>T	c.(2773-2775)aGg>aTg	p.R925M	TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R479M|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R820M|TBC1D31_ENST00000309336.3_Intron|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R802M	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	925						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										AAACTCCTTAGGGAAAACAGA	0.348																																																	0													58	59	59					8																	124154635		2203	4300	6503	SO:0001583	missense	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2774G>T	8.37:g.124154635G>T	ENSP00000287380:p.Arg925Met		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.R925M	ENST00000287380.1	37	c.2774	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949817	0.18431	.	.	ENSG00000156787	ENST00000287380;ENST00000522420;ENST00000521676;ENST00000518805	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.36	0.217	0.15264	.	0.708126	0.14177	N	0.336308	T	0.80628	0.4659	N	0.24115	0.695	0.29175	N	0.876882	P;B	0.45283	0.855;0.291	P;B	0.46718	0.525;0.125	T	0.73688	-0.3904	10	0.49607	T	0.09	-4.5471	9.209	0.37306	0.4944:0.0:0.5056:0.0	.	820;925	E7ERK7;Q96DN5	.;WDR67_HUMAN	M	925;820;802;479	ENSP00000287380:R925M;ENSP00000429334:R820M;ENSP00000430628:R802M;ENSP00000429494:R479M	ENSP00000287380:R925M	R	+	2	0	WDR67	124223816	0.915000	0.31059	0.296000	0.24974	0.424000	0.31475	0.201000	0.17276	-0.016000	0.14127	0.471000	0.43371	AGG	TBC1D31	-	NULL	ENSG00000156787		0.348	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1		0	27	0	G	NM_145647		124154635	1			no_errors	ENST00000287380	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.073	T	T	124154635	G	T	124154635	3	4	59	1	0	0	0	0	1	0	0	0	17367	1000	35	3	2848	3	WDR67	8	124154635	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	25211074	124154635	22209387	204	16912											
BAI1	575	genome.wustl.edu	37	chr8	143561135	143561135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggtggctgctgtccGgtgtccccgcaacgccacag	6	6	16	13	3	0	1	0	0	0	1	2	2	2	1	4	4	2	3	4	4	1	0	rs555744616		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:143561135G>A	ENST00000517894.1	+	9	2702	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R603Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	603					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCTGCTGTCCGGTGTCCCCGC	0.642																																																	0													71	84	80					8																	143561135		2125	4223	6348	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1808G>A	8.37:g.143561135G>A	ENSP00000430945:p.Arg603Gln			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R603Q	ENST00000517894.1	37	c.1808		8	.	.	.	.	.	.	.	.	.	.	g	15.05	2.717657	0.48622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.26810	1.71;1.71	4.67	4.67	0.58626	.	0.165145	0.40385	U	0.001112	T	0.36413	0.0966	L	0.48362	1.52	0.32267	N	0.569402	D	0.60160	0.987	P	0.55545	0.778	T	0.36286	-0.9754	10	0.23891	T	0.37	.	16.5456	0.84444	0.0:0.0:1.0:0.0	.	603	E9PBK0	.	Q	603	ENSP00000430945:R603Q;ENSP00000313046:R603Q	ENSP00000313046:R603Q	R	+	2	0	BAI1	143558137	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	2.893000	0.48633	2.162000	0.67917	0.306000	0.20318	CGG	BAI1	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000181790		0.642	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0	44	0	G	NM_001702		143561135	1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	missense	70.27	11	26	SNP	0.999	A	A	143561135	G	A	143561135	3	1	59	1	0	0	0	0	1	0	0	0	1299	1116	39	1	1838	1	BAI1	8	143561135	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	19406500	143561135	2802887	205	16913											
PLEC	5339	genome.wustl.edu	37	chr8	144995421	144995421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggttctcgtgcgtgttGgggtcaaagaagcccttggt	6	12	16	7	2	2	2	1	1	1	1	3	2	2	2	1	4	2	2	1	4	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr8:144995421G>A	ENST00000322810.4	-	32	9148	c.8979C>T	c.(8977-8979)ccC>ccT	p.P2993P	PLEC_ENST00000436759.2_Silent_p.P2883P|PLEC_ENST00000354589.3_Silent_p.P2856P|PLEC_ENST00000345136.3_Silent_p.P2856P|PLEC_ENST00000354958.2_Silent_p.P2834P|PLEC_ENST00000357649.2_Silent_p.P2860P|PLEC_ENST00000398774.2_Silent_p.P2824P|PLEC_ENST00000356346.3_Silent_p.P2842P|PLEC_ENST00000527096.1_Silent_p.P2879P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2993	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGTGCGTGTTGGGGTCAAAGA	0.657																																																	0													83	93	90					8																	144995421		2129	4254	6383	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8979C>T	8.37:g.144995421G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P2993	ENST00000322810.4	37	c.8979	CCDS43772.1	8																																																																																			PLEC	-	smart_Plectin_repeat	ENSG00000178209		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	30	0	G	NM_000445		144995421	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	A	A	144995421	G	A	144995421	2	1	59	1	0	0	0	0	0	0	0	1	12091	1335	47	3		3	PLEC	8	144995421	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1434286	144995421	1368601	206	16914											
RANBP6	26953	genome.wustl.edu	37	chr9	6013410	6013410	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagaaaaggcatggacTctgctgctgccactcgaaca	12	6	11	12	1	1	1	0	0	1	1	2	4	1	2	2	3	4	3	2	3	3	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:6013410T>G	ENST00000259569.5	-	1	2208	c.2198A>C	c.(2197-2199)gAg>gCg	p.E733A	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	733					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGGCATGGACTCTGCTGCTGC	0.428																																																	0													80	81	81					9																	6013410		2203	4300	6503	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2198A>C	9.37:g.6013410T>G	ENSP00000259569:p.Glu733Ala		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E733A	ENST00000259569.5	37	c.2198	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	T	13.60	2.284418	0.40394	.	.	ENSG00000137040	ENST00000259569	T	0.21543	2.0	3.79	3.79	0.43588	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.19406	0.0466	L	0.45228	1.405	0.80722	D	1	B;B	0.34290	0.312;0.447	B;B	0.38921	0.089;0.285	T	0.03910	-1.0993	10	0.21540	T	0.41	-10.5645	11.1695	0.48563	0.0:0.0:0.0:1.0	.	321;733	B4DTX6;O60518	.;RNBP6_HUMAN	A	733	ENSP00000259569:E733A	ENSP00000259569:E733A	E	-	2	0	RANBP6	6003410	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	5.878000	0.69682	1.948000	0.56530	0.528000	0.53228	GAG	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.428	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	-	0	51	0	T	NM_012416		6013410	-1	tier1	-	no_errors	ENST00000259569	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	G	G	6013410	T	G	6013410	3	3	59	1	0	0	0	0	1	0	0	0	13076	1551	54	4	1123	4	RANBP6	9	6013410	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09		6013410	135200021	207	16915											
CNTLN	54875	genome.wustl.edu	37	chr9	17135344	17135345	+	Frame_Shift_Ins	INS	-	-	A																															cggctagagggcatctcggtINSagaggaggcgatggtgaccc																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:17135344_17135345insA	ENST00000380647.3	+	1	365_366	c.281_282insA	c.(280-285)gtagagfs	p.E95fs	CNTLN_ENST00000380641.4_Frame_Shift_Ins_p.E95fs|CNTLN_ENST00000425824.1_Frame_Shift_Ins_p.E95fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000262360.5_Frame_Shift_Ins_p.E95fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	95					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGCATCTCGGTAGAGGAGGCGA	0.673																																																	0																																										SO:0001589	frameshift_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.282dupA	9.37:g.17135345_17135345dupA	ENSP00000370021:p.Glu95fs		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.E95fs	ENST00000380647.3	37	c.281_282	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.673	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0	27	0	-	NM_017738		17135345	1	tier1		no_errors	ENST00000380647	ensembl	human	known	74_37	frame_shift_ins	22.58	24	7	INS	0.947:0.972	A	A	17135345	-	A	17135344	7	5	59	1	0	1	1	0	0	0	0	0	3646	1638	57	0	283	0	CNTLN	9	17135344	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	11121934	17135344	124078087	208	16916											
IFNA16	3449	genome.wustl.edu	37	chr9	21217165	21217165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcaggagaaatgagagAttcttcccatttgtgccagg	11	10	12	8	0	2	3	1	1	1	2	3	5	3	3	2	3	1	1	2	3	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:21217165A>C	ENST00000380216.1	-	1	145	c.140T>G	c.(139-141)aTc>aGc	p.I47S		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	47					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAAATGAGAGATTCTTCCCAT	0.507																																																	0													101	102	102					9																	21217165		2203	4300	6503	SO:0001583	missense	0				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"Interferons"	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.140T>G	9.37:g.21217165A>C	ENSP00000369564:p.Ile47Ser		Q5VV12	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.I47S	ENST00000380216.1	37	c.140	CCDS34996.1	9	.	.	.	.	.	.	.	.	.	.	-	9.422	1.083185	0.20309	.	.	ENSG00000147885	ENST00000380216	T	0.03496	3.91	2.62	0.0963	0.14489	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.302160	0.05087	N	0.484575	T	0.09730	0.0239	L	0.56396	1.775	0.09310	N	1	P	0.47350	0.894	P	0.56474	0.799	T	0.25433	-1.0132	10	0.87932	D	0	.	1.6317	0.02734	0.4672:0.0:0.2533:0.2795	.	47	P05015	IFN16_HUMAN	S	47	ENSP00000369564:I47S	ENSP00000369564:I47S	I	-	2	0	IFNA16	21207165	0.000000	0.05858	0.040000	0.18447	0.042000	0.13812	0.033000	0.13754	0.210000	0.20664	0.155000	0.16302	ATC	IFNA16	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000147885		0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA16	HGNC	protein_coding	OTTHUMT00000051892.1	-	0	70	0	A	NM_002173		21217165	-1	tier1	-	no_errors	ENST00000380216	ensembl	human	known	74_37	missense	38.30	58	36	SNP	0.006	C	C	21217165	A	C	21217165	3	2	59	1	0	0	0	0	1	0	0	0	7562	333	12	4	433	4	IFNA16	9	21217165	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	4081821	21217165	119996266	209	16917											
MOBKL2B	79817	genome.wustl.edu	37	chr9	27455333	27455333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagatggtgccatagatgagGttgatccgattgaagaagtc	12	10	13	6	1	0	6	0	3	0	3	2	7	1	6	2	2	1	1	2	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:27455333G>A	ENST00000262244.5	-	2	640	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	72							metal ion binding (GO:0046872)										CATAGATGAGGTTGATCCGAT	0.557																																																	0													182	152	162					9																	27455333		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"MOB kinase activators"	23825	protein-coding gene	gene with protein product	"monopolar spindle 1 binding, MOB1, domain containing"		"MOB1, Mps One Binder kinase activator-like 2B (yeast)", "chromosome 9 open reading frame 35"	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.216C>T	9.37:g.27455333G>A			Q8NEB4|Q9H8V4	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.N72	ENST00000262244.5	37	c.216	CCDS6520.1	9																																																																																			MOB3B	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000120162		0.557	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3B	HGNC	protein_coding	OTTHUMT00000051974.2	-	0	32	0	G	NM_024761		27455333	-1	tier1	-	no_errors	ENST00000262244	ensembl	human	known	74_37	silent	37.93	16	11	SNP	1.000	A	A	27455333	G	A	27455333	2	1	59	1	0	0	0	0	0	0	0	1	9723	1252	44	3		3	MOBKL2B	9	27455333	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6238168	27455333	113758098	210	16918											
TAF1L	138474	genome.wustl.edu	37	chr9	32630161	32630161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaagggttgtttgggtCttattccaccatatcccaca	9	13	9	10	0	1	1	0	1	1	0	3	1	3	1	3	2	0	3	3	2	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:32630161C>A	ENST00000242310.4	-	1	5506	c.5417G>T	c.(5416-5418)aGa>aTa	p.R1806I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1806					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGTTTGGGTCTTATTCCACC	0.493																																																	0													215	169	185					9																	32630161		2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5417G>T	9.37:g.32630161C>A	ENSP00000418379:p.Arg1806Ile		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1806I	ENST00000242310.4	37	c.5417	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	9.629	1.135953	0.21123	.	.	ENSG00000122728	ENST00000242310	T	0.10668	2.85	0.479	-0.958	0.10347	.	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	N	0.08118	0	0.38772	D	0.954564	B	0.14438	0.01	B	0.10450	0.005	T	0.49000	-0.8984	10	0.49607	T	0.09	.	2.8391	0.05524	0.2565:0.4972:0.0:0.2462	.	1806	Q8IZX4	TAF1L_HUMAN	I	1806	ENSP00000418379:R1806I	ENSP00000418379:R1806I	R	-	2	0	TAF1L	32620161	1.000000	0.71417	0.089000	0.20774	0.016000	0.09150	2.756000	0.47549	-1.785000	0.01271	-1.076000	0.02234	AGA	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0	75	0	C			32630161	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	44.44	45	36	SNP	0.654	A	A	32630161	C	A	32630161	3	1	59	1	0	0	0	0	1	0	0	0	15570	913	32	3	67	3	TAF1L	9	32630161	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	5174828	32630161	108583270	211	16919											
TAF1L	138474	genome.wustl.edu	37	chr9	32630838	32630838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactctcccgactctgataCttgtgcttggagatgttctt	8	15	8	10	1	3	2	0	1	3	1	4	4	3	2	1	1	3	2	1	1	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:32630838C>A	ENST00000242310.4	-	1	4829	c.4740G>T	c.(4738-4740)aaG>aaT	p.K1580N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1580	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K1580N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACTCTGATACTTGTGCTTGG	0.383																																																	1	Substitution - Missense(1)	lung(1)											135	132	133					9																	32630838		2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4740G>T	9.37:g.32630838C>A	ENSP00000418379:p.Lys1580Asn		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.K1580N	ENST00000242310.4	37	c.4740	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036174	0.54896	.	.	ENSG00000122728	ENST00000242310	T	0.34472	1.36	0.489	0.489	0.16854	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.43743	0.1261	L	0.49640	1.575	0.39930	D	0.974278	D	0.71674	0.998	D	0.63192	0.912	T	0.39603	-0.9606	10	0.62326	D	0.03	.	6.7111	0.23278	0.0:0.9999:0.0:1.0E-4	.	1580	Q8IZX4	TAF1L_HUMAN	N	1580	ENSP00000418379:K1580N	ENSP00000418379:K1580N	K	-	3	2	TAF1L	32620838	1.000000	0.71417	0.991000	0.47740	0.865000	0.49528	0.442000	0.21628	0.514000	0.28300	0.205000	0.17691	AAG	TAF1L	-	pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	ENSG00000122728		0.383	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2		0	50	0	C			32630838	-1			no_errors	ENST00000242310	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A	A	32630838	C	A	32630838	3	1	59	1	0	0	0	0	1	0	0	0	15570	564	20	3	744	3	TAF1L	9	32630838	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	677	32630838	108582593	212	16920											
POLR1E	64425	genome.wustl.edu	37	chr9	37501715	37501715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgattttctagattacGgaacttaatttcggattcta	11	16	6	8	2	2	2	0	1	2	1	3	4	2	4	1	2	2	0	1	2	5	8	rs561301994		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:37501715G>T	ENST00000377798.4	+	11	1087	c.974G>T	c.(973-975)cGg>cTg	p.R325L	POLR1E_ENST00000442009.2_Missense_Mutation_p.R255L|POLR1E_ENST00000377792.3_Missense_Mutation_p.R387L	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R325Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTAGATTACGGAACTTAATT	0.353																																					Ovarian(116;843 1620 18506 32459 34463)												1	Substitution - Missense(1)	large_intestine(1)											117	114	115					9																	37501715		2203	4300	6503	SO:0001583	missense	0			AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"RNA polymerase subunits"	17631	protein-coding gene	gene with protein product	"RNA polymerase I associated factor 53"		"polymerase (RNA) I associated factor 1"	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.974G>T	9.37:g.37501715G>T	ENSP00000367029:p.Arg325Leu		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_RNA_pol-assoc_fac_A49-like	p.R387L	ENST00000377798.4	37	c.1160	CCDS6611.1	9	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662990	0.67700	.	.	ENSG00000137054	ENST00000377798;ENST00000442009;ENST00000377792	T;T;T	0.24908	1.83;1.83;1.83	5.82	2.96	0.34315	.	0.185942	0.49916	D	0.000132	T	0.37945	0.1022	L	0.56769	1.78	0.38003	D	0.934304	P;D;P	0.60575	0.877;0.988;0.913	P;P;P	0.61003	0.549;0.882;0.562	T	0.33752	-0.9856	10	0.72032	D	0.01	-11.84	6.9771	0.24681	0.3846:0.0:0.6154:0.0	.	255;387;325	E7EX70;Q9GZS1;Q9GZS1-2	.;RPA49_HUMAN;.	L	325;255;387	ENSP00000367029:R325L;ENSP00000399887:R255L;ENSP00000367023:R387L	ENSP00000367023:R387L	R	+	2	0	POLR1E	37491715	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	3.208000	0.51114	0.786000	0.33708	0.561000	0.74099	CGG	POLR1E	-	pfam_RNA_pol-assoc_fac_A49-like	ENSG00000137054		0.353	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1E	HGNC	protein_coding	OTTHUMT00000052464.1		0	33	0	G	NM_022490		37501715	1			no_errors	ENST00000377792	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	37501715	G	T	37501715	3	4	59	1	0	0	0	0	1	0	0	0	12252	1116	39	2	1016	2	POLR1E	9	37501715	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4870877	37501715	103711716	213	16921											
MCART1	92014	genome.wustl.edu	37	chr9	37888069	37888069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatttcagtgccttgaaaGcctggtaagtgttggtaaat	11	13	11	6	0	1	1	1	1	0	0	1	2	1	1	2	2	2	3	2	2	4	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:37888069G>T	ENST00000377716.2	-	3	1222	c.479C>A	c.(478-480)gCt>gAt	p.A160D	SLC25A51_ENST00000380590.3_Missense_Mutation_p.A160D|SLC25A51_ENST00000242275.6_Missense_Mutation_p.A160D|SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	160					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TGCCTTGAAAGCCTGGTAAGT	0.438																																																	0													164	151	155					9																	37888069		2203	4300	6503	SO:0001583	missense	0			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"Solute carriers"	23323	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 1"	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.479C>A	9.37:g.37888069G>T	ENSP00000366945:p.Ala160Asp			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A160D	ENST00000377716.2	37	c.479	CCDS6614.1	9	.	.	.	.	.	.	.	.	.	.	.	18.42	3.619419	0.66787	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.81415	-1.49;-1.49;-1.49	4.49	4.49	0.54785	Mitochondrial carrier domain (2);	0.141857	0.47852	D	0.000201	D	0.90079	0.6901	M	0.85777	2.775	0.54753	D	0.999983	D	0.56287	0.975	D	0.72075	0.976	D	0.91823	0.5469	10	0.87932	D	0	.	15.0327	0.71720	0.0:0.0:1.0:0.0	.	160	Q9H1U9	MCAR1_HUMAN	D	160	ENSP00000369964:A160D;ENSP00000366945:A160D;ENSP00000242275:A160D	ENSP00000242275:A160D	A	-	2	0	MCART1	37878069	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	9.255000	0.95524	2.225000	0.72522	0.585000	0.79938	GCT	SLC25A51	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000122696		0.438	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A51	HGNC	protein_coding	OTTHUMT00000313746.1	-	0	46	0	G	NM_033412		37888069	-1	tier1	-	no_errors	ENST00000242275	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	37888069	G	T	37888069	3	4	59	1	0	0	0	0	1	0	0	0	9407	971	34	3	418	3	MCART1	9	37888069	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	386354	37888069	103325362	214	16922											
FAM122A	116224	genome.wustl.edu	37	chr9	71395941	71395941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatgaactttcgtctaaGtgattcactcatcctgagac	11	13	7	10	1	3	4	2	3	1	2	5	5	4	4	1	0	1	0	1	0	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:71395941G>T	ENST00000394264.3	+	1	978	c.861G>T	c.(859-861)aaG>aaT	p.K287N	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	287										endometrium(1)|lung(2)	3						TTTCGTCTAAGTGATTCACTC	0.438																																																	0													157	166	163					9																	71395941		2202	4300	6502	SO:0001583	missense	0			AK126379	CCDS6623.1	9q21.13	2011-02-10	2006-07-11	2006-07-11	ENSG00000187866	ENSG00000187866			23490	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 42"	C9orf42		12477932	Standard	NM_138333		Approved	MGC17347	uc004agw.1	Q96E09	OTTHUMG00000019971	ENST00000394264.3:c.861G>T	9.37:g.71395941G>T	ENSP00000377807:p.Lys287Asn			Missense_Mutation	SNP	NULL	p.K287N	ENST00000394264.3	37	c.861	CCDS6623.1	9	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019215	0.54576	.	.	ENSG00000187866	ENST00000394264;ENST00000377279	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.66939	2.045	0.28324	N	0.922116	D	0.54772	0.968	P	0.61874	0.895	T	0.58797	-0.7573	9	0.87932	D	0	-29.3956	12.8382	0.57786	0.0:0.0:1.0:0.0	.	287	Q96E09	F122A_HUMAN	N	287;271	.	ENSP00000366492:K271N	K	+	3	2	FAM122A	70585761	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.095000	0.41729	2.758000	0.94735	0.563000	0.77884	AAG	FAM122A	-	NULL	ENSG00000187866		0.438	FAM122A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM122A	HGNC	protein_coding	OTTHUMT00000052556.1		0	40	0	G	NM_138333		71395941	1			no_errors	ENST00000394264	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	71395941	G	T	71395941	3	4	59	1	0	0	0	0	1	0	0	0	5438	1020	36	3	863	3	FAM122A	9	71395941	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	33507872	71395941	69817490	215	16923											
RASEF	158158	genome.wustl.edu	37	chr9	85615846	85615846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacctccaaagctctcctGcaccccgtgtgacctctgaa	9	9	6	17	1	3	2	1	2	2	0	5	2	4	2	6	0	2	2	6	0	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:85615846G>T	ENST00000376447.3	-	10	1662	c.1402C>A	c.(1402-1404)Cag>Aag	p.Q468K		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	468					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAGCTCTCCTGCACCCCGTGT	0.502																																																	0													91	78	82					9																	85615846		2203	4300	6503	SO:0001583	missense	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1402C>A	9.37:g.85615846G>T	ENSP00000365630:p.Gln468Lys		A6NC29|Q96N04	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.Q468K	ENST00000376447.3	37	c.1402	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907876	0.33721	.	.	ENSG00000165105	ENST00000376447	T	0.59502	0.26	5.7	4.79	0.61399	.	0.628120	0.17335	N	0.177959	T	0.49253	0.1546	L	0.34521	1.04	0.80722	D	1	B	0.16396	0.017	B	0.11329	0.006	T	0.38887	-0.9640	10	0.41790	T	0.15	.	15.9875	0.80174	0.0:0.1398:0.8602:0.0	.	468	Q8IZ41	RASEF_HUMAN	K	468	ENSP00000365630:Q468K	ENSP00000365630:Q468K	Q	-	1	0	RASEF	84805666	1.000000	0.71417	0.771000	0.31576	0.571000	0.35966	3.570000	0.53834	1.376000	0.46267	0.585000	0.79938	CAG	RASEF	-	NULL	ENSG00000165105		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	-	0	38	0	G	NM_152573		85615846	-1	tier1	-	no_errors	ENST00000376447	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.980	T	T	85615846	G	T	85615846	3	4	59	1	0	0	0	0	1	0	0	0	13113	1328	46	3	852	3	RASEF	9	85615846	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	14219905	85615846	55597585	216	16924											
FRMD3	257019	genome.wustl.edu	37	chr9	85862863	85862863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagcatgtagaggatgagGtggactttcccagccaccca	10	7	11	13	0	0	2	0	1	0	1	1	4	1	4	4	3	2	2	4	3	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:85862863G>T	ENST00000304195.3	-	14	1970	c.1764C>A	c.(1762-1764)caC>caA	p.H588Q	FRMD3_ENST00000328788.1_Intron|FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000465485.1_5'Flank	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	588						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGAGGATGAGGTGGACTTTCC	0.453																																																	0													167	167	167					9																	85862863		1922	4139	6061	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1764C>A	9.37:g.85862863G>T	ENSP00000303508:p.His588Gln		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.H588Q	ENST00000304195.3	37	c.1764	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	G	8.715	0.913070	0.17907	.	.	ENSG00000172159	ENST00000304195	D	0.81659	-1.52	5.52	2.66	0.31614	.	0.468437	0.26265	N	0.025373	T	0.60379	0.2264	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51826	-0.8656	10	0.41790	T	0.15	.	8.8186	0.35011	0.2878:0.0:0.7122:0.0	.	588	A2A2Y4	FRMD3_HUMAN	Q	588	ENSP00000303508:H588Q	ENSP00000303508:H588Q	H	-	3	2	FRMD3	85052683	1.000000	0.71417	0.179000	0.23059	0.996000	0.88848	1.271000	0.33098	0.679000	0.31345	0.655000	0.94253	CAC	FRMD3	-	NULL	ENSG00000172159		0.453	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	-	0	36	0	G	NM_174938		85862863	-1	tier1	-	no_errors	ENST00000304195	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.519	T	T	85862863	G	T	85862863	3	4	59	1	0	0	0	0	1	0	0	0	6074	1252	44	3	33	3	FRMD3	9	85862863	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	247017	85862863	55350568	217	16925											
C9orf79	286234	genome.wustl.edu	37	chr9	90503319	90503319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggtctggcccaccaaGgcagtttatggactgcatgg	7	9	15	10	0	1	0	0	0	1	0	1	1	1	1	2	6	1	3	2	6	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:90503319G>T	ENST00000325643.5	+	4	3983	c.3917G>T	c.(3916-3918)aGg>aTg	p.R1306M		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1306					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1306M(1)									GGCCCACCAAGGCAGTTTATG	0.587																																																	1	Substitution - Missense(1)	lung(1)											61	58	59					9																	90503319		2203	4300	6503	SO:0001583	missense	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3917G>T	9.37:g.90503319G>T	ENSP00000322640:p.Arg1306Met		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	NULL	p.R1306M	ENST00000325643.5	37	c.3917	CCDS6676.1	9	.	.	.	.	.	.	.	.	.	.	g	10.58	1.390916	0.25118	.	.	ENSG00000177992	ENST00000325643	T	0.05513	3.43	2.47	-4.94	0.03057	.	2.061170	0.02357	N	0.076538	T	0.16938	0.0407	L	0.49126	1.545	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.39461	-0.9613	10	0.66056	D	0.02	.	6.9003	0.24279	0.6734:0.147:0.1795:0.0	.	1306	Q6ZUB1	CI079_HUMAN	M	1306	ENSP00000322640:R1306M	ENSP00000322640:R1306M	R	+	2	0	C9orf79	89693139	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.264000	0.08658	-1.944000	0.01038	-0.136000	0.14681	AGG	SPATA31E1	-	NULL	ENSG00000177992		0.587	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0	14	0	G	NM_178828		90503319	1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	missense	66.67	4	8	SNP	0.000	T	T	90503319	G	T	90503319	3	4	59	1	0	0	0	0	1	0	0	0	2504	1000	35	3	3931	3	C9orf79	9	90503319	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4640456	90503319	50710112	218	16926											
BICD2	23299	genome.wustl.edu	37	chr9	95482726	95482726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcagcttggccaggccGccgtgctcaaagccattgac	8	7	13	13	2	1	1	1	1	0	0	1	1	1	1	4	3	3	3	4	3	1	2	rs540280844		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:95482726G>A	ENST00000375512.3	-	4	985	c.918C>T	c.(916-918)ggC>ggT	p.G306G	BICD2_ENST00000356884.6_Silent_p.G306G	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	306					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGGCCAGGCCGCCGTGCTCAA	0.642													G|||	1	0.000199681	0	0	5008	,	,		17772	0		0	False		,,,				2504	0.001																0													84	87	86					9																	95482726		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.918C>T	9.37:g.95482726G>A			O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc	p.G306	ENST00000375512.3	37	c.918	CCDS6700.1	9																																																																																			BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	-	0	46	0	G	NM_015250		95482726	-1	tier1	-	no_errors	ENST00000356884	ensembl	human	known	74_37	silent	43.59	44	34	SNP	0.001	A	A	95482726	G	A	95482726	2	1	59	1	0	0	0	0	0	0	0	1	1431	1074	38	1		1	BICD2	9	95482726	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4979407	95482726	45730705	219	16927											
FBP2	8789	genome.wustl.edu	37	chr9	97355869	97355869	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggccttgcgcacagccGaggagatggctttgatggcc	7	7	15	12	3	0	2	0	1	0	1	0	5	0	2	4	4	2	2	4	4	0	2	rs200620421		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:97355869G>T	ENST00000375337.3	-	1	206	c.140C>A	c.(139-141)tCg>tAg	p.S47*		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	47					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GCGCACAGCCGAGGAGATGGC	0.647																																																	0													93	76	82					9																	97355869		2203	4300	6503	SO:0001587	stop_gained	0			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.140C>A	9.37:g.97355869G>T	ENSP00000364486:p.Ser47*		Q17R39|Q6FI53	Nonsense_Mutation	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.S47*	ENST00000375337.3	37	c.140	CCDS6711.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.155488	0.98099	.	.	ENSG00000130957	ENST00000375337	.	.	.	5.7	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.6052	14.7836	0.69784	0.0694:0.0:0.9306:0.0	.	.	.	.	X	47	.	ENSP00000364486:S47X	S	-	2	0	FBP2	96395690	1.000000	0.71417	0.888000	0.34837	0.989000	0.77384	7.771000	0.85420	1.412000	0.46977	0.655000	0.94253	TCG	FBP2	-	pfam_FBPase_class-1/SBPase,prints_FBPtase	ENSG00000130957		0.647	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP2	HGNC	protein_coding	OTTHUMT00000053189.1		0	53	0	G	NM_003837		97355869	-1			no_errors	ENST00000375337	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T	T	97355869	G	T	97355869	4	4	59	1	0	0	0	0	0	1	0	0	5728	1059	37	2	907	2	FBP2	9	97355869	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1873143	97355869	43857562	220	16928											
OR13C8	138802	genome.wustl.edu	37	chr9	107331770	107331770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtttatttcttttgccatgGgggccacggagtgcatgatc	6	15	12	8	1	1	1	0	1	1	0	2	2	1	2	2	3	2	2	2	3	1	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:107331770G>A	ENST00000335040.1	+	1	322	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTTGCCATGGGGGCCACGGA	0.493																																																	0													111	103	106					9																	107331770		2203	4300	6503	SO:0001583	missense	0				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.322G>A	9.37:g.107331770G>A	ENSP00000334068:p.Gly108Arg		Q5VVG0|Q96R44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G108R	ENST00000335040.1	37	c.322	CCDS35090.1	9	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286261	0.23478	.	.	ENSG00000186943	ENST00000335040	T	0.01347	4.99	5.18	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.06600	0.0169	H	0.96889	3.9	0.34387	D	0.693732	P	0.45827	0.867	B	0.42995	0.404	T	0.17837	-1.0356	10	0.72032	D	0.01	.	12.0391	0.53442	0.0839:0.0:0.9161:0.0	.	108	Q8NGS7	O13C8_HUMAN	R	108	ENSP00000334068:G108R	ENSP00000334068:G108R	G	+	1	0	OR13C8	106371591	0.017000	0.18338	1.000000	0.80357	0.046000	0.14306	1.794000	0.38774	1.554000	0.49487	-0.137000	0.14449	GGG	OR13C8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186943		0.493	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1	-	0	36	0	G			107331770	1	tier1	-	no_errors	ENST00000335040	ensembl	human	known	74_37	missense	41.18	30	21	SNP	0.944	A	A	107331770	G	A	107331770	3	1	59	1	0	0	0	0	1	0	0	0	10977	1232	43	3	324	3	OR13C8	9	107331770	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	9975901	107331770	33881661	221	16929											
LPAR1	1902	genome.wustl.edu	37	chr9	113704324	113704324	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagatacaaacagtgAttccaagtcccatcaccagc	15	8	7	11	0	1	4	1	3	0	1	3	4	3	4	3	0	3	0	3	0	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:113704324A>T	ENST00000374431.3	-	4	553	c.170T>A	c.(169-171)aTc>aAc	p.I57N	LPAR1_ENST00000374430.2_Missense_Mutation_p.I57N|LPAR1_ENST00000538760.1_Missense_Mutation_p.I58N|LPAR1_ENST00000541779.1_Missense_Mutation_p.I58N|LPAR1_ENST00000358883.4_Missense_Mutation_p.I57N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	57					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ACAAACAGTGATTCCAAGTCC	0.433																																					NSCLC(115;661 2323 9836 34256)												0													116	104	108					9																	113704324		2203	4300	6503	SO:0001583	missense	0			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.170T>A	9.37:g.113704324A>T	ENSP00000363553:p.Ile57Asn		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn	p.I58N	ENST00000374431.3	37	c.173	CCDS6777.1	9	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824309	0.71143	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.36	5.36	0.76844	.	0.088725	0.64402	D	0.000001	T	0.39009	0.1062	L	0.40543	1.245	0.80722	D	1	P;P;P	0.47841	0.901;0.901;0.901	B;B;B	0.42916	0.402;0.402;0.402	T	0.38394	-0.9663	10	0.87932	D	0	.	14.5418	0.67999	1.0:0.0:0.0:0.0	.	58;58;57	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	N	57;58;57;57;39;58;57	ENSP00000363553:I57N;ENSP00000445697:I58N;ENSP00000363552:I57N;ENSP00000351755:I57N;ENSP00000440201:I58N;ENSP00000401810:I57N	ENSP00000351755:I57N	I	-	2	0	LPAR1	112744145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.049000	0.60858	0.533000	0.62120	ATC	LPAR1	-	prints_GPCR_Rhodpsn	ENSG00000198121		0.433	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	-	0	14	0	A	NM_057159		113704324	-1	tier1	-	no_errors	ENST00000538760	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	T	T	113704324	A	T	113704324	3	4	59	1	0	0	0	0	1	0	0	0	8939	333	12	5	932	5	LPAR1	9	113704324	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	6372554	113704324	27509107	222	16930											
DBC1	1620	genome.wustl.edu	37	chr9	121929731	121929731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttggagggatccgacagGtccacggggccctggccagt	6	7	15	13	2	1	0	0	0	1	0	3	3	3	2	4	6	0	0	4	6	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:121929731G>T	ENST00000265922.3	-	8	2378	c.1917C>A	c.(1915-1917)gaC>gaA	p.D639E	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	639					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GATCCGACAGGTCCACGGGGC	0.557																																																	0													141	137	139					9																	121929731		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1917C>A	9.37:g.121929731G>T	ENSP00000265922:p.Asp639Glu		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.D639E	ENST00000265922.3	37	c.1917	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	5.820	0.335501	0.11013	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.12672	2.66	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	N	0.12182	0.205	0.58432	D	0.999991	B	0.19073	0.033	B	0.17098	0.017	T	0.16988	-1.0384	10	0.02654	T	1	-28.2149	10.2622	0.43434	0.1467:0.0:0.8533:0.0	.	639	O60477	DBC1_HUMAN	E	639	ENSP00000265922:D639E	ENSP00000265922:D639E	D	-	3	2	DBC1	120969552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.992000	0.29667	2.756000	0.94617	0.655000	0.94253	GAC	BRINP1	-	NULL	ENSG00000078725		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	29	0	G	NM_014618		121929731	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	121929731	G	T	121929731	3	4	59	1	0	0	0	0	1	0	0	0	4256	1252	44	3	372	3	DBC1	9	121929731	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	8225407	121929731	19283700	223	16931											
FBXW2	26190	genome.wustl.edu	37	chr9	123527004	123527004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactctggcagaggccagcGactaatcaggctctctgtcc	8	9	11	13	1	3	1	1	0	2	1	5	2	4	1	2	3	2	3	2	3	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:123527004G>T	ENST00000608872.1	-	8	1385	c.1198C>A	c.(1198-1200)Cgc>Agc	p.R400S	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Missense_Mutation_p.R335S	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	400					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AGAGGCCAGCGACTAATCAGG	0.532																																																	0													118	119	119					9																	123527004		1968	4160	6128	SO:0001583	missense	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1198C>A	9.37:g.123527004G>T	ENSP00000476369:p.Arg400Ser		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R400S	ENST00000608872.1	37	c.1198	CCDS43872.1	9	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083163	0.76642	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.16743	2.32;2.32	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049056	0.85682	D	0.000000	T	0.28532	0.0706	L	0.34521	1.04	0.58432	D	0.999999	D;P;B	0.67145	0.996;0.495;0.25	D;B;B	0.76575	0.988;0.141;0.141	T	0.02313	-1.1178	10	0.13853	T	0.58	-3.1256	16.037	0.80638	0.0:0.0:1.0:0.0	.	335;400;400	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	S	400;335;400	ENSP00000363036:R400S;ENSP00000341161:R335S	ENSP00000341161:R335S	R	-	1	0	FBXW2	122566825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.785000	0.85724	2.447000	0.82792	0.563000	0.77884	CGC	FBXW2	-	superfamily_WD40_repeat_dom	ENSG00000119402		0.532	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2		0	20	0	G			123527004	-1			no_errors	ENST00000608872	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	123527004	G	T	123527004	3	4	59	1	0	0	0	0	1	0	0	0	5788	1058	37	2	170	2	FBXW2	9	123527004	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1597273	123527004	17686427	224	16932											
CEP110	11064	genome.wustl.edu	37	chr9	123888117	123888117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagtgcaggaagctgcGggatgagaaagagacattgt	14	7	16	4	1	0	3	0	2	0	2	0	8	0	5	0	2	3	2	0	2	3	1	rs368951469		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:123888117G>A	ENST00000373855.1	+	14	2188	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.R91Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.R643Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.R91Q			Q7Z7A1	CNTRL_HUMAN	centriolin	643					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGAAGCTGCGGGATGAGAAA	0.478																																																	0													112	117	115					9																	123888117		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1928G>A	9.37:g.123888117G>A	ENSP00000362962:p.Arg643Gln		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.R643Q	ENST00000373855.1	37	c.1928	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	2.144	-0.396065	0.04899	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.25250	2.15;2.15;1.85;1.81	5.7	2.13	0.27403	.	.	.	.	.	T	0.07279	0.0184	N	0.01168	-0.975	0.21184	N	0.999765	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.36065	-0.9763	9	0.02654	T	1	.	8.9276	0.35650	0.7867:0.0:0.2133:0.0	.	643;643;643	B2RP65;F5GZN0;Q7Z7A1	.;.;CNTRL_HUMAN	Q	643;643;643;125;91;91	ENSP00000362962:R643Q;ENSP00000238341:R643Q;ENSP00000362956:R91Q;ENSP00000362953:R91Q	ENSP00000238341:R643Q	R	+	2	0	CNTRL	122927938	0.998000	0.40836	0.988000	0.46212	0.446000	0.32137	1.506000	0.35747	0.424000	0.26061	-1.148000	0.01847	CGG	CNTRL	-	NULL	ENSG00000119397		0.478	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	-	0	48	0	G	NM_007018		123888117	1	tier1	-	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.970	A	A	123888117	G	A	123888117	3	1	59	1	0	0	0	0	1	0	0	0	3252	1116	39	1	1974	1	CEP110	9	123888117	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	361113	123888117	17325314	225	16933											
NR6A1	2649	genome.wustl.edu	37	chr9	127289130	127289130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctgatggaacttgtGatagaggtagatgagccgct	10	12	13	6	1	0	5	0	3	0	2	0	6	0	6	1	2	3	3	1	2	4	5	rs374615385		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:127289130G>T	ENST00000487099.2	-	8	1286	c.1129C>A	c.(1129-1131)Cac>Aac	p.H377N	NR6A1_ENST00000416460.2_Missense_Mutation_p.H372N|NR6A1_ENST00000344523.4_Missense_Mutation_p.H376N|NR6A1_ENST00000373584.3_Missense_Mutation_p.H373N	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	377					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TGGAACTTGTGATAGAGGTAG	0.493																																					Esophageal Squamous(192;272 2884 6208 20560)												0													173	145	155					9																	127289130		2203	4300	6503	SO:0001583	missense	0			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"Nuclear hormone receptors"	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.1129C>A	9.37:g.127289130G>T	ENSP00000420267:p.His377Asn		O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.H377N	ENST00000487099.2	37	c.1129	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356270	0.41700	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.15	4.23	0.50019	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.102268	0.64402	D	0.000002	D	0.89466	0.6723	N	0.04880	-0.145	0.32871	D	0.509299	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.06405	0.001;0.002;0.0	D	0.85502	0.1192	10	0.16896	T	0.51	.	14.8423	0.70235	0.0:0.1447:0.8553:0.0	.	373;377;372	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	N	377;373;372;376	ENSP00000420267:H377N;ENSP00000362686:H373N;ENSP00000413701:H372N;ENSP00000341135:H376N	ENSP00000341135:H376N	H	-	1	0	NR6A1	126328951	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.139000	0.94554	1.250000	0.43966	0.655000	0.94253	CAC	NR6A1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000148200		0.493	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	HGNC	protein_coding	OTTHUMT00000054043.4	-	0	53	0	G			127289130	-1	tier1	-	no_errors	ENST00000487099	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	127289130	G	T	127289130	3	4	59	1	0	0	0	0	1	0	0	0	10676	1290	45	3	325	3	NR6A1	9	127289130	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3401013	127289130	13924301	226	16934											
LMX1B	4010	genome.wustl.edu	37	chr9	129455488	129455488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtcagagcaagggcagCggggatgacgggaaggaccc	11	2	19	9	2	1	2	1	1	0	1	1	5	1	5	1	6	2	3	1	6	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:129455488C>T	ENST00000373474.4	+	4	634	c.627C>T	c.(625-627)agC>agT	p.S209S	LMX1B_ENST00000561065.1_Silent_p.S186S|LMX1B_ENST00000526117.1_Silent_p.S209S|LMX1B_ENST00000425646.2_Silent_p.S186S|LMX1B_ENST00000355497.5_Silent_p.S209S			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	209					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCAAGGGCAGCGGGGATGACG	0.647									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													36	35	36					9																	129455488		2197	4297	6494	SO:0001819	synonymous_variant	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.627C>T	9.37:g.129455488C>T			F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.S209	ENST00000373474.4	37	c.627	CCDS55342.1	9																																																																																			LMX1B	-	superfamily_Homeodomain-like	ENSG00000136944		0.647	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2	-	0	50	0	C			129455488	1	tier1	-	no_errors	ENST00000355497	ensembl	human	known	74_37	silent	55.81	19	24	SNP	0.989	T	T	129455488	C	T	129455488	2	4	59	1	0	0	0	0	0	0	0	1	8892	767	27	1		1	LMX1B	9	129455488	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2166358	129455488	11757943	227	16935											
SH3GLB2	56904	genome.wustl.edu	37	chr9	131777085	131777085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccctccaggaagttgcGcaagggtgtgaggaagctga	9	7	15	10	1	0	2	0	2	0	0	2	4	2	4	3	3	2	3	3	3	3	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:131777085G>T	ENST00000372564.3	-	4	578	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SH3GLB2_ENST00000416629.1_Missense_Mutation_p.R145S|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.R145S|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.R145S|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.R145S	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	145	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						AGGAAGTTGCGCAAGGGTGTG	0.572																																																	0													104	106	105					9																	131777085		2203	4300	6503	SO:0001583	missense	0			AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"SH3-domain, GRB2-like, endophilin B2"			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.433C>A	9.37:g.131777085G>T	ENSP00000361645:p.Arg145Ser		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.R145S	ENST00000372564.3	37	c.433	CCDS6916.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158906	0.78226	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.57	4.67	0.58626	BAR (3);IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.895	D;P	0.91635	0.999;0.693	T	0.78023	-0.2366	10	0.52906	T	0.07	-1.1613	13.9138	0.63883	0.0732:0.0:0.9268:0.0	.	145;145	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	S	145	ENSP00000361645:R145S;ENSP00000361640:R145S;ENSP00000361634:R145S;ENSP00000402566:R145S;ENSP00000388282:R145S	ENSP00000361634:R145S	R	-	1	0	SH3GLB2	130816906	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.964000	0.49192	1.502000	0.48669	0.655000	0.94253	CGC	SH3GLB2	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom	ENSG00000148341		0.572	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB2	HGNC	protein_coding	OTTHUMT00000054535.2		0	48	0	G			131777085	-1			no_errors	ENST00000372554	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	131777085	G	T	131777085	3	4	59	1	0	0	0	0	1	0	0	0	14299	1087	38	2	786	2	SH3GLB2	9	131777085	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2321597	131777085	9436346	228	16936											
GPR107	57720	genome.wustl.edu	37	chr9	132854566	132854566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgacagctacctctcaGcaggagaaattcctctcccc	10	9	6	16	0	2	2	1	1	2	1	6	3	4	2	5	1	3	2	5	1	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:132854566G>T	ENST00000372406.1	+	9	1276	c.769G>T	c.(769-771)Gca>Tca	p.A257S	GPR107_ENST00000372410.3_Missense_Mutation_p.A257S|GPR107_ENST00000347136.6_Missense_Mutation_p.A257S	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	257						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CTACCTCTCAGCAGGAGAAAT	0.383																																																	0													147	143	144					9																	132854566		2203	4300	6503	SO:0001583	missense	0			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.769G>T	9.37:g.132854566G>T	ENSP00000361483:p.Ala257Ser		A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt	p.A257S	ENST00000372406.1	37	c.769	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962562	0.92791	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.32023	1.54;1.47;1.53	5.56	5.56	0.83823	.	0.154096	0.44688	D	0.000428	T	0.56543	0.1992	M	0.82056	2.57	0.80722	D	1	P;D;P	0.55800	0.649;0.973;0.649	B;P;B	0.60117	0.321;0.869;0.321	T	0.60016	-0.7345	10	0.62326	D	0.03	-6.8946	18.183	0.89785	0.0:0.0:1.0:0.0	.	257;257;257	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	S	257	ENSP00000361483:A257S;ENSP00000336988:A257S;ENSP00000361487:A257S	ENSP00000336988:A257S	A	+	1	0	GPR107	131894387	1.000000	0.71417	0.967000	0.41034	0.999000	0.98932	8.384000	0.90160	2.638000	0.89438	0.603000	0.83216	GCA	GPR107	-	pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt	ENSG00000148358		0.383	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	-	0	30	0	G			132854566	1	tier1	-	no_errors	ENST00000372410	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.996	T	T	132854566	G	T	132854566	3	4	59	1	0	0	0	0	1	0	0	0	6649	971	34	3	803	3	GPR107	9	132854566	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1077481	132854566	8358865	229	16937											
TSC1	7248	genome.wustl.edu	37	chr9	135796783	135796783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatggtccttggatccaGtcactaattccggatgaatt	9	14	9	9	1	2	1	2	1	0	0	5	3	5	3	3	3	0	1	3	3	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:135796783G>T	ENST00000298552.3	-	8	925	c.704C>A	c.(703-705)aCt>aAt	p.T235N	TSC1_ENST00000545250.1_Missense_Mutation_p.T184N|TSC1_ENST00000403810.1_Missense_Mutation_p.T235N|TSC1_ENST00000475903.1_5'Flank|TSC1_ENST00000440111.2_Missense_Mutation_p.T235N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	235					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTGGATCCAGTCACTAATTC	0.393			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											107	102	104					9																	135796783		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.704C>A	9.37:g.135796783G>T	ENSP00000298552:p.Thr235Asn		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.T235N	ENST00000298552.3	37	c.704	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.327622	0.95733	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000537172;ENST00000424271;ENST00000403810	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.94758	0.8308	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.999;0.998;0.993;0.995;1.0;0.995	D	0.94638	0.7828	10	0.87932	D	0	-9.9543	19.4074	0.94653	0.0:0.0:1.0:0.0	.	114;184;235;235;235;235	B7Z604;B7Z897;Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;.;.;TSC1_HUMAN	N	235;235;184;114;114;235	ENSP00000298552:T235N;ENSP00000394524:T235N;ENSP00000444017:T184N;ENSP00000438099:T114N;ENSP00000386093:T235N	ENSP00000298552:T235N	T	-	2	0	TSC1	134786604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	ACT	TSC1	-	pfam_Hamartin	ENSG00000165699		0.393	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0	44	0	G			135796783	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	135796783	G	T	135796783	3	4	59	1	0	0	0	0	1	0	0	0	16653	1029	36	3	2854	3	TSC1	9	135796783	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2942217	135796783	5416648	230	16938											
ADAMTSL2	9719	genome.wustl.edu	37	chr9	136405772	136405772	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcactgtaccaccgtGgacggccagcggcagctcat	8	6	12	15	3	1	0	1	0	0	0	1	2	1	1	4	3	4	4	4	3	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:136405772G>T	ENST00000354484.4	+	6	1022	c.465G>T	c.(463-465)gtG>gtT	p.V155V	ADAMTSL2_ENST00000393060.1_Silent_p.V155V|ADAMTSL2_ENST00000393061.3_Silent_p.V264V	NM_001145320.1	NP_001138792.1	Q86TH1	ATL2_HUMAN	ADAMTS-like 2	155					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GTACCACCGTGGACGGCCAGC	0.582																																																	0													55	44	48					9																	136405772		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011177	CCDS6976.1	9q34.3	2005-01-12			ENSG00000197859	ENSG00000197859			14631	protein-coding gene	gene with protein product		612277				9628581, 14667842	Standard	NM_014694		Approved	KIAA0605	uc004cei.3	Q86TH1	OTTHUMG00000131706	ENST00000354484.4:c.465G>T	9.37:g.136405772G>T			B1B0D5|O60345	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.V264	ENST00000354484.4	37	c.792	CCDS6976.1	9																																																																																			ADAMTSL2	-	NULL	ENSG00000197859		0.582	ADAMTSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL2	HGNC	protein_coding	OTTHUMT00000254619.1	-	0	39	0	G	NM_014694		136405772	1	tier1	-	no_errors	ENST00000393061	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.980	T	T	136405772	G	T	136405772	2	4	59	1	0	0	0	0	0	0	0	1	275	1335	47	3		3	ADAMTSL2	9	136405772	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	608989	136405772	4807659	231	16939											
VAV2	7410	genome.wustl.edu	37	chr9	136671268	136671268	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcacggacacgtcgatGgccctcaggaagctgtgatg	10	7	12	12	3	2	1	2	1	0	0	3	4	2	3	2	3	1	1	2	3	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:136671268G>T	ENST00000371850.3	-	9	802	c.771C>A	c.(769-771)gcC>gcA	p.A257A	VAV2_ENST00000371851.1_Silent_p.A252A|VAV2_ENST00000406606.3_Silent_p.A252A	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	257	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACACGTCGATGGCCCTCAGGA	0.647																																																	0													81	53	63					9																	136671268		2200	4300	6500	SO:0001819	synonymous_variant	0				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12658	protein-coding gene	gene with protein product		600428	"vav 2 oncogene"			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.771C>A	9.37:g.136671268G>T			A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain	p.A257	ENST00000371850.3	37	c.771	CCDS48053.1	9																																																																																			VAV2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000160293		0.647	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	HGNC	protein_coding	OTTHUMT00000054939.1	-	0	63	0	G			136671268	-1	tier1	-	no_errors	ENST00000371850	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	136671268	G	T	136671268	2	4	59	1	0	0	0	0	0	0	0	1	17181	1335	47	3		3	VAV2	9	136671268	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	265496	136671268	4542163	232	16940											
LCNL1	401562	genome.wustl.edu	37	chr9	139878960	139878960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccatggcgggtgccaGaaaatggacacgaccttcac	11	5	12	13	2	1	1	1	0	0	1	1	3	1	2	4	4	1	0	4	4	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr9:139878960G>T	ENST00000408973.2	+	2	735	c.141G>T	c.(139-141)caG>caT	p.Q47H	LCNL1_ENST00000432827.1_3'UTR	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	47																	GCGGGTGCCAGAAAATGGACA	0.672																																																	0													17	20	19					9																	139878960		1912	4108	6020	SO:0001583	missense	0				CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"Lipocalins"	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	ENST00000408973.2:c.141G>T	9.37:g.139878960G>T	ENSP00000386162:p.Gln47His			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.Q47H	ENST00000408973.2	37	c.141	CCDS43908.1	9	.	.	.	.	.	.	.	.	.	.	g	12.10	1.838056	0.32513	.	.	ENSG00000214402	ENST00000408973	T	0.08458	3.09	4.63	3.72	0.42706	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.	.	.	.	T	0.17238	0.0414	L	0.36672	1.1	0.23669	N	0.997151	D	0.89917	1.0	D	0.91635	0.999	T	0.08743	-1.0707	9	0.41790	T	0.15	.	8.5046	0.33179	0.1106:0.0:0.8894:0.0	.	47	Q6ZST4	LCNL1_HUMAN	H	47	ENSP00000386162:Q47H	ENSP00000386162:Q47H	Q	+	3	2	LCNL1	138998781	0.670000	0.27512	0.160000	0.22671	0.040000	0.13550	1.039000	0.30266	0.941000	0.37499	0.479000	0.44913	CAG	LCNL1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000214402		0.672	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCNL1	HGNC	protein_coding	OTTHUMT00000356128.1	-	0	34	0	G	NM_207510		139878960	1	tier1	-	no_errors	ENST00000408973	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.937	T	T	139878960	G	T	139878960	3	4	59	1	0	0	0	0	1	0	0	0	8716	933	33	3	147	3	LCNL1	9	139878960	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3207692	139878960	1334471	233	16941											
FAM107B	83641	genome.wustl.edu	37	chr10	14709635	14709635	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagaatgtactctacctGatgtcattttctgctccagc	10	13	6	12	0	3	2	1	1	2	1	4	2	4	2	2	0	4	2	2	0	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:14709635G>T	ENST00000181796.2	-	2	700	c.467C>A	c.(466-468)tCa>tAa	p.S156*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACTCTACCTGATGTCATTTT	0.448																																																	0													143	132	136					10																	14709635		2203	4300	6503	SO:0001587	stop_gained	0			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.467C>A	10.37:g.14709635G>T	ENSP00000181796:p.Ser156*		A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	pfam_DUF1151	p.S156*	ENST00000181796.2	37	c.467	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050434	0.55218	.	.	ENSG00000065809	ENST00000181796	.	.	.	4.52	4.52	0.55395	.	0.844843	0.09943	N	0.735709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9327	0.58296	0.0:0.0:1.0:0.0	.	.	.	.	X	156	.	ENSP00000181796:S156X	S	-	2	0	FAM107B	14749641	1.000000	0.71417	0.953000	0.39169	0.087000	0.18053	2.746000	0.47467	2.518000	0.84900	0.555000	0.69702	TCA	FAM107B	-	NULL	ENSG00000065809		0.448	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	-	0	40	0	G	NM_031453		14709635	-1	tier1	-	no_errors	ENST00000181796	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	0.968	T	T	14709635	G	T	14709635	4	4	59	1	0	0	0	0	0	1	0	0	5409	1294	45	3	469	3	FAM107B	10	14709635	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		14709635	120825112	234	16942											
SPAG6	9576	genome.wustl.edu	37	chr10	22690117	22690118	+	Frame_Shift_Ins	INS	-	-	A																															agccataaagaatatcctgcINSaaaaatgtacctacttacca																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:22690117_22690118insA	ENST00000376624.3	+	9	1367_1368	c.1225_1226insA	c.(1225-1227)caafs	p.Q409fs	SPAG6_ENST00000313311.6_Frame_Shift_Ins_p.Q409fs|SPAG6_ENST00000376601.1_Frame_Shift_Ins_p.Q170fs|SPAG6_ENST00000538630.1_Frame_Shift_Ins_p.Q384fs|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376603.2_Frame_Shift_Ins_p.Q485fs|RP11-301N24.3_ENST00000422675.1_RNA	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	409					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.Q409R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GAATATCCTGCAAAAATGTACC	0.347																																																	1	Substitution - Missense(1)	prostate(1)																																								SO:0001589	frameshift_variant	0			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"Armadillo repeat containing"	11215	protein-coding gene	gene with protein product	"axoneme central apparatus protein"	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1230dupA	10.37:g.22690122_22690122dupA	ENSP00000365811:p.Gln409fs		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Frame_Shift_Ins	INS	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.C487fs	ENST00000376624.3	37	c.1453_1454	CCDS7139.1	10																																																																																			SPAG6	-	superfamily_ARM-type_fold	ENSG00000077327		0.347	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1		0	29	0	-			22690118	1	tier1		no_errors	ENST00000376603	ensembl	human	known	74_37	frame_shift_ins	37.84	23	14	INS	1.000:1.000	A	A	22690118	-	A	22690117	7	5	59	1	0	1	1	0	0	0	0	0	15029	711	25	0	1259	0	SPAG6	10	22690117	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	7980482	22690117	112844630	235	16943											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24874962	24874962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcggcttcttcctcttgCgactagcagctgcaaagatg	7	13	9	12	2	2	1	0	0	2	1	4	2	3	1	1	1	4	4	1	1	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:24874962C>T	ENST00000396432.2	-	26	4742	c.4256G>A	c.(4255-4257)cGc>cAc	p.R1419H	ARHGAP21_ENST00000320481.6_3'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1418					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTCCTCTTGCGACTAGCAGC	0.448																																																	0													65	60	62					10																	24874962		2203	4300	6503	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4256G>A	10.37:g.24874962C>T	ENSP00000379709:p.Arg1419His		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R1419H	ENST00000396432.2	37	c.4256	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	34	5.391567	0.95988	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.15952	2.38	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50013	-0.8877	10	0.87932	D	0	.	18.6261	0.91340	0.0:1.0:0.0:0.0	.	1418	Q5T5U3	RHG21_HUMAN	H	1419;868	ENSP00000379709:R1419H	ENSP00000379709:R1419H	R	-	2	0	ARHGAP21	24914968	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.770000	0.85390	2.446000	0.82766	0.655000	0.94253	CGC	ARHGAP21	-	NULL	ENSG00000107863		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	32	0	C	NM_020824		24874962	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	T	T	24874962	C	T	24874962	3	4	59	1	0	0	0	0	1	0	0	0	871	768	27	1	1624	1	ARHGAP21	10	24874962	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2184845	24874962	110659785	236	16944											
ARMC4	55130	genome.wustl.edu	37	chr10	28250550	28250550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattctgatggcaaatctgCacttgcttcctgacgatggt	9	14	9	9	1	2	2	0	2	2	0	3	3	3	2	1	2	2	3	1	2	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:28250550C>A	ENST00000305242.5	-	10	1425	c.1333G>T	c.(1333-1335)Gca>Tca	p.A445S	ARMC4_ENST00000537576.1_Missense_Mutation_p.A137S|ARMC4_ENST00000239715.3_Missense_Mutation_p.A302S|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	445					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGCAAATCTGCACTTGCTTCC	0.388																																																	0													66	65	65					10																	28250550		2203	4297	6500	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1333G>T	10.37:g.28250550C>A	ENSP00000306410:p.Ala445Ser		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.A445S	ENST00000305242.5	37	c.1333	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491149	0.44249	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.46819	1.1;1.53;0.86;0.88	5.4	4.27	0.50696	Armadillo-like helical (1);Armadillo-type fold (1);	0.334105	0.33419	N	0.004930	T	0.36468	0.0968	L	0.49350	1.555	0.35523	D	0.80161	B	0.17268	0.021	B	0.21708	0.036	T	0.39292	-0.9621	10	0.26408	T	0.33	-13.8082	4.8242	0.13408	0.0:0.7153:0.0:0.2847	.	445	Q5T2S8	ARMC4_HUMAN	S	137;445;137;339;302	ENSP00000443208:A137S;ENSP00000306410:A445S;ENSP00000398155:A339S;ENSP00000239715:A302S	ENSP00000239715:A302S	A	-	1	0	ARMC4	28290556	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.129000	0.57957	2.677000	0.91161	0.650000	0.86243	GCA	ARMC4	-	superfamily_ARM-type_fold	ENSG00000169126		0.388	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1		0	30	0	C	NM_018076		28250550	-1			no_errors	ENST00000305242	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	28250550	C	A	28250550	3	1	59	1	0	0	0	0	1	0	0	0	954	710	25	3	1845	3	ARMC4	10	28250550	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	3375588	28250550	107284197	237	16945											
ZNF438	220929	genome.wustl.edu	37	chr10	31137949	31137949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacatcctgtcctaggcccCcaagcatctgggactgtagt	10	9	9	13	0	1	0	0	0	1	0	3	1	3	1	4	2	2	2	4	2	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:31137949C>T	ENST00000361310.3	-	6	1714	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E	ZNF438_ENST00000331737.6_Missense_Mutation_p.G452E|ZNF438_ENST00000444692.2_Missense_Mutation_p.G452E|ZNF438_ENST00000452305.1_Missense_Mutation_p.G452E|ZNF438_ENST00000436087.2_Missense_Mutation_p.G462E|ZNF438_ENST00000538351.2_Missense_Mutation_p.G413E|ZNF438_ENST00000413025.1_Missense_Mutation_p.G462E|ZNF438_ENST00000442986.1_Missense_Mutation_p.G462E|ZNF438_ENST00000375311.1_Missense_Mutation_p.G26E			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	462					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCTAGGCCCCCAAGCATCTG	0.473																																																	0													62	67	65					10																	31137949		2203	4300	6503	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"Zinc fingers, C2H2-type"	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1385G>A	10.37:g.31137949C>T	ENSP00000354663:p.Gly462Glu		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G462E	ENST00000361310.3	37	c.1385	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336424	0.41398	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.05	2.99	0.34606	.	0.457424	0.25869	N	0.027767	T	0.04497	0.0123	L	0.50333	1.59	0.09310	N	1	B;B	0.28850	0.144;0.225	B;B	0.26517	0.032;0.07	T	0.38373	-0.9664	10	0.05525	T	0.97	-6.0055	4.0272	0.09693	0.0:0.5943:0.2538:0.1519	.	462;452	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	E	452;462;462;462;462;452;452;413;181;26	ENSP00000333571:G452E;ENSP00000354663:G462E;ENSP00000406934:G462E;ENSP00000412363:G462E;ENSP00000387546:G462E;ENSP00000413060:G452E;ENSP00000410898:G452E;ENSP00000445461:G413E;ENSP00000364460:G26E	ENSP00000333571:G452E	G	-	2	0	ZNF438	31177955	0.002000	0.14202	0.002000	0.10522	0.004000	0.04260	1.468000	0.35332	1.321000	0.45227	0.655000	0.94253	GGG	ZNF438	-	NULL	ENSG00000183621		0.473	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	-	0	27	0	C	NM_182755		31137949	-1	tier1	-	no_errors	ENST00000361310	ensembl	human	known	74_37	missense	50.00	18	18	SNP	0.007	T	T	31137949	C	T	31137949	3	4	59	1	0	0	0	0	1	0	0	0	17958	623	22	3	1109	3	ZNF438	10	31137949	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2887399	31137949	104396798	238	16946											
NRP1	8829	genome.wustl.edu	37	chr10	33552787	33552787	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actaggtgttgtgtagttctGggaacattcaggacctatga	10	13	12	6	0	2	1	1	1	1	0	2	3	2	3	1	3	1	3	1	3	4	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:33552787G>T	ENST00000265371.4	-	5	970	c.445C>A	c.(445-447)Cag>Aag	p.Q149K	NRP1_ENST00000374867.2_Missense_Mutation_p.Q149K|NRP1_ENST00000374816.3_Missense_Mutation_p.Q149K|NRP1_ENST00000374822.4_Missense_Mutation_p.Q149K|NRP1_ENST00000374821.5_Missense_Mutation_p.Q149K|NRP1_ENST00000374823.5_Missense_Mutation_p.Q149K|NRP1_ENST00000432372.2_Missense_Mutation_p.Q149K|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000395995.1_Missense_Mutation_p.Q149K			O14786	NRP1_HUMAN	neuropilin 1	149	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GTGTAGTTCTGGGAACATTCA	0.408																																					Melanoma(104;886 1489 44640 45944 51153)												0													141	139	140					10																	33552787		2203	4300	6503	SO:0001583	missense	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.445C>A	10.37:g.33552787G>T	ENSP00000265371:p.Gln149Lys		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.Q149K	ENST00000265371.4	37	c.445	CCDS7177.1	10	.	.	.	.	.	.	.	.	.	.	G	8.851	0.944701	0.18356	.	.	ENSG00000099250	ENST00000265371;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.76	3.76	0.43208	CUB (5);	0.190457	0.53938	D	0.000051	T	0.12944	0.0314	N	0.04335	-0.225	0.36057	D	0.841158	B;B;B;B;B;B;B;B	0.25609	0.043;0.13;0.13;0.001;0.009;0.011;0.043;0.043	B;B;B;B;B;B;B;B	0.21360	0.014;0.03;0.034;0.0;0.002;0.004;0.014;0.009	T	0.18085	-1.0348	10	0.18276	T	0.48	-15.8368	10.3289	0.43809	0.0:0.1078:0.6254:0.2668	.	149;149;149;149;149;149;149;149	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.	K	149	ENSP00000265371:Q149K;ENSP00000364001:Q149K;ENSP00000379317:Q149K;ENSP00000363955:Q149K;ENSP00000363954:Q149K;ENSP00000363956:Q149K;ENSP00000363949:Q149K	ENSP00000265371:Q149K	Q	-	1	0	NRP1	33592793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.014000	0.40951	1.387000	0.46486	0.655000	0.94253	CAG	NRP1	-	pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000099250		0.408	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2		0	55	0	G			33552787	-1			no_errors	ENST00000265371	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	33552787	G	T	33552787	3	4	59	1	0	0	0	0	1	0	0	0	10699	1357	47	3	2393	3	NRP1	10	33552787	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2414838	33552787	101981960	239	16947											
MAPK8	5599	genome.wustl.edu	37	chr10	49634074	49634074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaactcttccctgatGtccttttcccagctgactca	8	14	6	13	0	2	3	1	3	1	1	5	4	5	3	3	0	2	1	3	0	1	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:49634074G>T	ENST00000374189.1	+	8	1013	c.832G>T	c.(832-834)Gtc>Ttc	p.V278F	MAPK8_ENST00000360332.3_Missense_Mutation_p.V278F|MAPK8_ENST00000395611.3_Intron|MAPK8_ENST00000374182.3_Missense_Mutation_p.V278F			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CTTCCCTGATGTCCTTTTCCC	0.383																																																	0													120	115	117					10																	49634074		2203	4300	6503	SO:0001583	missense	0			L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6881	protein-coding gene	gene with protein product	"JUN N-terminal kinase"	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.832G>T	10.37:g.49634074G>T	ENSP00000363304:p.Val278Phe		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK	p.V278F	ENST00000374189.1	37	c.832	CCDS7224.1	10	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818501	0.90790	.	.	ENSG00000107643	ENST00000374189;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80352	0.4607	L	0.31804	0.96	0.80722	D	1	B;B;B;B	0.21905	0.014;0.062;0.062;0.05	B;B;B;B	0.33454	0.063;0.105;0.164;0.063	T	0.74115	-0.3769	10	0.44086	T	0.13	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	278;278;278;278	P45983-2;P45983;A1L4K2;P45983-3	.;MK08_HUMAN;.;.	F	278	ENSP00000363304:V278F;ENSP00000363297:V278F;ENSP00000363294:V278F;ENSP00000353483:V278F;ENSP00000363291:V278F	ENSP00000353483:V278F	V	+	1	0	MAPK8	49304080	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.716000	0.74702	2.861000	0.98227	0.655000	0.94253	GTC	MAPK8	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000107643		0.383	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK8	HGNC	protein_coding	OTTHUMT00000047931.1	-	0	32	0	G			49634074	1	tier1	-	no_errors	ENST00000360332	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	49634074	G	T	49634074	3	4	59	1	0	0	0	0	1	0	0	0	9321	1377	48	3	934	3	MAPK8	10	49634074	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	16081287	49634074	85900673	240	16948											
TTC18	118491	genome.wustl.edu	37	chr10	75053076	75053076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgacttctgcttcaaatGcaaagagttgaagctgttca	12	13	8	8	0	3	3	2	2	1	1	3	3	3	3	0	0	3	5	0	0	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:75053076G>T	ENST00000310715.3	-	17	2045	c.1925C>A	c.(1924-1926)gCa>gAa	p.A642E	TTC18_ENST00000394865.1_Missense_Mutation_p.A642E|TTC18_ENST00000401621.2_Missense_Mutation_p.A642E|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.A111E|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		642						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGCTTCAAATGCAAAGAGTTG	0.373																																																	0													128	112	117					10																	75053076		2203	4300	6503	SO:0001583	missense	0																														ENST00000310715.3:c.1925C>A	10.37:g.75053076G>T	ENSP00000310829:p.Ala642Glu		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A642E	ENST00000310715.3	37	c.1925	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788857	0.90367	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;D;T	0.94576	-1.3;-1.3;-3.46;-1.3	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.96803	0.8956	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97084	0.9786	10	0.72032	D	0.01	-18.5194	17.1754	0.86840	0.0:0.0:1.0:0.0	.	642	Q5T0N1	TTC18_HUMAN	E	642;642;642;49;642	ENSP00000310829:A642E;ENSP00000384479:A642E;ENSP00000409527:A49E;ENSP00000378334:A642E	ENSP00000310829:A642E	A	-	2	0	TTC18	74723082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.638000	0.83328	2.632000	0.89209	0.557000	0.71058	GCA	TTC18	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000156042		0.373	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding		-	0	39	0	G			75053076	-1	tier1	-	no_errors	ENST00000310715	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	75053076	G	T	75053076	3	4	59	1	0	0	0	0	1	0	0	0	16734	1319	46	3	1488	3	TTC18	10	75053076	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	25419002	75053076	60481671	241	16949											
ATAD1	84896	genome.wustl.edu	37	chr10	89530710	89530710	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaatcaagaccacctacaGgctggttgatatgaaatctt	14	11	7	9	0	3	3	2	2	1	1	3	3	3	3	2	2	1	2	2	2	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:89530710G>T	ENST00000308448.7	-	7	1157	c.779C>A	c.(778-780)cCt>cAt	p.P260H	ATAD1_ENST00000328142.3_Splice_Site_p.P260H|ATAD1_ENST00000541004.1_Splice_Site_p.P260H|ATAD1_ENST00000400215.3_Intron	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	260					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		ACCACCTACAGGCTGGTTGAT	0.368																																																	0													108	99	102					10																	89530710		2203	4300	6503	SO:0001630	splice_region_variant	0			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"ATPases / AAA-type"	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.780+1C>A	10.37:g.89530710G>T			D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P260H	ENST00000308448.7	37	c.779	CCDS7386.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287999	0.80803	.	.	ENSG00000138138	ENST00000308448;ENST00000328142;ENST00000541004	D;D;D	0.99060	-5.03;-5.03;-5.38	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.99486	0.9817	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98292	1.0514	9	.	.	.	-17.2736	16.6727	0.85271	0.0:0.0:1.0:0.0	.	260	Q8NBU5	ATAD1_HUMAN	H	260	ENSP00000339017:P260H;ENSP00000339016:P260H;ENSP00000445500:P260H	.	P	-	2	0	ATAD1	89520690	1.000000	0.71417	0.992000	0.48379	0.858000	0.48976	9.011000	0.93618	2.706000	0.92434	0.650000	0.86243	CCT	ATAD1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000138138		0.368	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD1	HGNC	protein_coding	OTTHUMT00000049235.1	-	0	20	0	G	NM_032810	Missense_Mutation	89530710	-1	tier1	-	no_errors	ENST00000308448	ensembl	human	known	74_37	missense	30.00	7	3	SNP	1.000	T	T	89530710	G	T	89530710	5	4	59	1	0	0	0	0	0	0	1	0	1071	1014	35	3	322	3	ATAD1	10	89530710	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	14477634	89530710	46004037	242	16950											
PANK1	53354	genome.wustl.edu	37	chr10	91353588	91353588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accttgatgctacagcagatCcttgaaggccaaatcgttca	12	10	8	11	1	1	3	1	2	0	1	3	3	2	3	3	1	3	3	3	1	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:91353588C>G	ENST00000307534.4	-	4	1624	c.1469G>C	c.(1468-1470)gGa>gCa	p.G490A	PANK1_ENST00000371774.2_Missense_Mutation_p.G292A|MIR107_ENST00000362127.1_RNA|PANK1_ENST00000322191.6_Intron|PANK1_ENST00000342512.3_Missense_Mutation_p.G265A	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	490					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TACAGCAGATCCTTGAAGGCC	0.448																																																	0													220	192	201					10																	91353588		2203	4300	6503	SO:0001583	missense	0			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1469G>C	10.37:g.91353588C>G	ENSP00000302108:p.Gly490Ala		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.G490A	ENST00000307534.4	37	c.1469	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	17.64	3.438641	0.62955	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99552	-6.15;-6.15;-6.15	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99366	0.9777	L	0.45228	1.405	0.80722	D	1	P;D;P	0.89917	0.604;1.0;0.604	B;D;B	0.91635	0.202;0.999;0.202	D	0.99883	1.1116	10	0.20519	T	0.43	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	292;490;265	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	A	265;292;490;353	ENSP00000345118:G265A;ENSP00000360839:G292A;ENSP00000302108:G490A	ENSP00000302108:G490A	G	-	2	0	PANK1	91343568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	GGA	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000152782		0.448	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding			0	50	0	C			91353588	-1			no_errors	ENST00000307534	ensembl	human	known	74_37	missense	9.30	38	4	SNP	1.000	G	G	91353588	C	G	91353588	3	3	59	1	0	0	0	0	1	0	0	0	11455	855	30	5	343	5	PANK1	10	91353588	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	1822878	91353588	44181159	243	16951											
BTAF1	9044	genome.wustl.edu	37	chr10	93719738	93719738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttcgtctgtaggttGtggcaccagttcgtgaaact	6	16	10	9	2	1	1	0	1	1	0	4	1	2	1	2	2	1	4	2	2	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:93719738G>T	ENST00000265990.6	+	11	1398	c.1090G>T	c.(1090-1092)Gtg>Ttg	p.V364L	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	364					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCTGTAGGTTGTGGCACCAGT	0.363																																																	0													104	100	101					10																	93719738		2203	4300	6503	SO:0001583	missense	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1090G>T	10.37:g.93719738G>T	ENSP00000265990:p.Val364Leu		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V364L	ENST00000265990.6	37	c.1090	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925635	0.92319	.	.	ENSG00000095564	ENST00000265990	T	0.64618	-0.11	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.90198	3.095	0.80722	D	1	D	0.71674	0.998	D	0.65010	0.931	D	0.86287	0.1671	10	0.72032	D	0.01	-13.474	19.0981	0.93263	0.0:0.0:1.0:0.0	.	364	O14981	BTAF1_HUMAN	L	364	ENSP00000265990:V364L	ENSP00000265990:V364L	V	+	1	0	BTAF1	93709718	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.835000	0.99442	2.520000	0.84964	0.585000	0.79938	GTG	BTAF1	-	superfamily_ARM-type_fold	ENSG00000095564		0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	-	0	64	0	G	NM_003972		93719738	1	tier1	-	no_errors	ENST00000265990	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	93719738	G	T	93719738	3	4	59	1	0	0	0	0	1	0	0	0	1540	1377	48	3	1132	3	BTAF1	10	93719738	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2366150	93719738	41815009	244	16952											
PLCE1	51196	genome.wustl.edu	37	chr10	96084763	96084763	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcagctcttgacctcaGaaagtatccaaaccaaggag	13	9	7	12	0	3	2	2	1	2	1	5	3	4	3	3	1	2	2	3	1	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:96084763G>T	ENST00000371380.3	+	31	7070	c.6835G>T	c.(6835-6837)Gaa>Taa	p.E2279*	PLCE1_ENST00000371385.3_Nonsense_Mutation_p.E1971*|PLCE1_ENST00000464214.1_3'UTR|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.E1971*|PLCE1_ENST00000260766.3_Nonsense_Mutation_p.E2279*|NOC3L_ENST00000543788.1_Intron			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2279					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTGACCTCAGAAAGTATCCA	0.468																																																	0													89	91	90					10																	96084763		1903	4125	6028	SO:0001587	stop_gained	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6835G>T	10.37:g.96084763G>T	ENSP00000360431:p.Glu2279*		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.E2279*	ENST00000371380.3	37	c.6835	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	52	18.967274	0.99913	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	.	.	.	5.59	5.59	0.84812	.	0.101909	0.43260	D	0.000600	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.2023	0.93715	0.0:0.0:1.0:0.0	.	.	.	.	X	2279;2279;1971;1971	.	ENSP00000260766:E2279X	E	+	1	0	PLCE1	96074753	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	7.159000	0.77483	2.628000	0.89032	0.655000	0.94253	GAA	PLCE1	-	NULL	ENSG00000138193		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	47	0	G	NM_016341		96084763	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	0.998	T	T	96084763	G	T	96084763	4	4	59	1	0	0	0	0	0	1	0	0	12073	943	33	3	7243	3	PLCE1	10	96084763	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2365025	96084763	39449984	245	16953											
LCOR	84458	genome.wustl.edu	37	chr10	98715549	98715549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaagtaaaggagaggctggGcactttgaaaaaccctccaa	16	6	10	9	0	0	2	0	1	0	1	1	3	1	2	2	3	1	3	2	3	6	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:98715549G>T	ENST00000371097.4	+	8	1718	c.1172G>T	c.(1171-1173)gGc>gTc	p.G391V	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.G391V|LCOR_ENST00000540664.1_Missense_Mutation_p.G391V|LCOR_ENST00000371103.3_Missense_Mutation_p.G391V			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	391	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		GAGAGGCTGGGCACTTTGAAA	0.433																																																	0													55	58	57					10																	98715549		2203	4300	6503	SO:0001583	missense	0				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.1172G>T	10.37:g.98715549G>T	ENSP00000360138:p.Gly391Val		D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Missense_Mutation	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.G391V	ENST00000371097.4	37	c.1172	CCDS7451.1	10	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289380	0.59976	.	.	ENSG00000196233	ENST00000540664;ENST00000371103;ENST00000371097;ENST00000356016	.	.	.	5.52	5.52	0.82312	Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Helix-turn-helix, Psq (1);	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70088	-0.4968	9	0.72032	D	0.01	-3.4209	19.8055	0.96531	0.0:0.0:1.0:0.0	.	391;391	Q96JN0;Q96JN0-2	LCOR_HUMAN;.	V	391	.	ENSP00000348298:G391V	G	+	2	0	LCOR	98705539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.759000	0.94783	0.555000	0.69702	GGC	LCOR	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	ENSG00000196233		0.433	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LCOR	HGNC	protein_coding	OTTHUMT00000049628.2		0	18	0	G			98715549	1			no_errors	ENST00000356016	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	98715549	G	T	98715549	3	4	59	1	0	0	0	0	1	0	0	0	8717	1203	42	3	1182	3	LCOR	10	98715549	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2630786	98715549	36819198	246	16954											
DNMBP	23268	genome.wustl.edu	37	chr10	101637038	101637038	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgagtttctgattggctGacacgctcagctcatttggg	6	15	11	9	1	4	3	2	3	2	0	4	3	4	3	0	2	1	4	0	2	0	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:101637038G>T	ENST00000324109.4	-	17	4695	c.4604C>A	c.(4603-4605)tCa>tAa	p.S1535*	DNMBP_ENST00000540316.1_Nonsense_Mutation_p.S471*|DNMBP_ENST00000342239.3_Nonsense_Mutation_p.S1559*|DNMBP_ENST00000543621.1_Nonsense_Mutation_p.S781*	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1535	SH3 6. {ECO:0000255|PROSITE- ProRule:PRU00192}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1535*(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTGATTGGCTGACACGCTCAG	0.473																																																	1	Substitution - Nonsense(1)	endometrium(1)											204	190	195					10																	101637038		2203	4300	6503	SO:0001587	stop_gained	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.4604C>A	10.37:g.101637038G>T	ENSP00000315659:p.Ser1535*		Q8IVY3|Q9Y2L3	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.S1559*	ENST00000324109.4	37	c.4676	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.901302	0.98551	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621;ENST00000540316	.	.	.	5.38	3.48	0.39840	.	0.179826	0.27202	N	0.020456	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.0212	11.3289	0.49465	0.1512:0.0:0.8488:0.0	.	.	.	.	X	1559;1535;781;781;471	.	ENSP00000315659:S1535X	S	-	2	0	DNMBP	101627028	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.620000	0.54203	1.237000	0.43756	0.561000	0.74099	TCA	DNMBP	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000107554		0.473	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2		0	64	0	G	NM_015221		101637038	-1			no_errors	ENST00000342239	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	1.000	T	T	101637038	G	T	101637038	4	4	59	1	0	0	0	0	0	1	0	0	4688	1294	45	3	133	3	DNMBP	10	101637038	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2921489	101637038	33897709	247	16955											
LBX1	10660	genome.wustl.edu	37	chr10	102988555	102988555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccggcgccgccttgccGtcctccttggaagtcatctc	3	10	9	19	4	2	0	1	0	1	0	6	1	5	1	7	2	1	0	7	2	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:102988555G>A	ENST00000370193.2	-	1	996	c.18C>T	c.(16-18)gaC>gaT	p.D6D	LBX1-AS1_ENST00000546988.1_RNA|LBX1-AS1_ENST00000547077.1_RNA	NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	6					anatomical structure morphogenesis (GO:0009653)|heart looping (GO:0001947)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neuron fate determination (GO:0048664)|regulation of transcription from RNA polymerase II promoter involved in spinal cord association neuron specification (GO:0021920)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CCGCCTTGCCGTCCTCCTTGG	0.761																																																	0													15	17	17					10																	102988555		2198	4292	6490	SO:0001819	synonymous_variant	0			X90828	CCDS31270.1	10q24.32	2011-06-20	2007-02-15		ENSG00000138136	ENSG00000138136		"Homeoboxes / ANTP class : NKL subclass"	16960	protein-coding gene	gene with protein product		604255	"ladybird homeobox homolog 1 (Drosophila)"			8645601	Standard	XM_005269443		Approved	LBX1H, HPX6	uc001ksx.3	P52954	OTTHUMG00000018927	ENST00000370193.2:c.18C>T	10.37:g.102988555G>A			B9EGA2|Q05BB2	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.D6	ENST00000370193.2	37	c.18	CCDS31270.1	10																																																																																			LBX1	-	NULL	ENSG00000138136		0.761	LBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBX1	HGNC	protein_coding	OTTHUMT00000049928.3	-	0	23	0	G	NM_006562		102988555	-1	tier1	-	no_errors	ENST00000370193	ensembl	human	known	74_37	silent	46.67	16	14	SNP	0.998	A	A	102988555	G	A	102988555	2	1	59	1	0	0	0	0	0	0	0	1	8681	1136	40	1		1	LBX1	10	102988555	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1351517	102988555	32546192	248	16956											
C10orf76	79591	genome.wustl.edu	37	chr10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaaaaaaccactttGgtgttcttcttccttgtctt	10	15	7	9	0	3	1	0	0	3	1	4	2	4	1	2	1	2	2	2	1	3	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											125	124	124					10																	103771512		1823	4079	5902	SO:0001583	missense	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	C10orf76	-	superfamily_ARM-type_fold	ENSG00000120029		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0	20	0	G	NM_024541		103771512	-1	tier1	-	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	103771512	G	T	103771512	3	4	59	1	0	0	0	0	1	0	0	0	1621	1357	47	3	1334	3	C10orf76	10	103771512	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	782957	103771512	31763235	249	16957											
SH3PXD2A	9644	genome.wustl.edu	37	chr10	105362805	105362805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcggatgcctgcgtccgAagcagagcggggcttcaggt	6	6	17	12	5	1	1	1	0	0	1	2	3	2	2	3	4	4	2	3	4	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:105362805A>G	ENST00000369774.4	-	15	2446	c.2170T>C	c.(2170-2172)Tcg>Ccg	p.S724P	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S696P|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.S559P|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.S591P			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	724	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTGCGTCCGAAGCAGAGCGG	0.612																																																	0													68	73	71					10																	105362805		2203	4300	6503	SO:0001583	missense	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2170T>C	10.37:g.105362805A>G	ENSP00000358789:p.Ser724Pro		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.S724P	ENST00000369774.4	37	c.2170		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.86|16.86	3.240258|3.240258	0.58995|0.58995	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.66815	.|-0.14;-0.2;-0.04;-0.23	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77136|0.77136	0.4086|0.4086	L|L	0.52573|0.52573	1.65|1.65	0.49213|0.49213	D|D	0.99976|0.99976	.|D;D;D;D	.|0.76494	.|0.998;0.998;0.998;0.999	.|D;D;D;D	.|0.80764	.|0.986;0.986;0.99;0.994	T|T	0.78119|0.78119	-0.2328|-0.2328	5|10	.|0.51188	.|T	.|0.08	-9.5027|-9.5027	14.9964|14.9964	0.71436|0.71436	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|724;573;569;696	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	S|P	650|724;696;531;639;591;559	.|ENSP00000358789:S724P;ENSP00000348215:S696P;ENSP00000443663:S591P;ENSP00000441514:S559P	.|ENSP00000318135:S531P	F|S	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105352795|105352795	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	5.285000|5.285000	0.65633|0.65633	1.955000|1.955000	0.56771|0.56771	0.459000|0.459000	0.35465|0.35465	TTC|TCG	SH3PXD2A	-	NULL	ENSG00000107957		0.612	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	-	0	49	0	A	NM_014631		105362805	-1	tier1	-	no_errors	ENST00000369774	ensembl	human	known	74_37	missense	31.34	46	21	SNP	1.000	G	G	105362805	A	G	105362805	3	3	59	1	0	0	0	0	1	0	0	0	14301	246	9	4	1235	4	SH3PXD2A	10	105362805	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	1591293	105362805	30171942	250	16958											
VAX1	11023	genome.wustl.edu	37	chr10	118893720	118893720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaagaggctgtggccCgcggccggggcgcctgcgtg	4	5	20	12	5	0	2	0	1	0	1	0	2	0	2	3	6	1	2	3	6	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:118893720C>T	ENST00000369206.5	-	3	803	c.804G>A	c.(802-804)gcG>gcA	p.A268A	VAX1_ENST00000277905.2_Intron	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	268	Ala-rich.				axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GGCTGTGGCCCGCGGCCGGGG	0.766																																																	0													13	15	14					10																	118893720		692	1589	2281	SO:0001819	synonymous_variant	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.804G>A	10.37:g.118893720C>T			B1AVW5|Q6ZSX0	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.A268	ENST00000369206.5	37	c.804	CCDS44483.1	10																																																																																			VAX1	-	NULL	ENSG00000148704		0.766	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	-	0	17	0	C	XM_301242		118893720	-1	tier1	-	no_errors	ENST00000369206	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.001	T	T	118893720	C	T	118893720	2	4	59	1	0	0	0	0	0	0	0	1	17183	639	23	1		1	VAX1	10	118893720	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	13530915	118893720	16641027	251	16959											
INPP5F	22876	genome.wustl.edu	37	chr10	121580378	121580378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcattgatgctactcacaGagacgtggatgtgctgttac	9	12	10	10	1	2	2	2	1	0	1	2	4	2	3	1	1	4	3	1	1	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:121580378G>T	ENST00000361976.2	+	16	2073	c.1907G>T	c.(1906-1908)aGa>aTa	p.R636I	INPP5F_ENST00000490818.1_3'UTR|INPP5F_ENST00000369080.3_Missense_Mutation_p.R26I	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GCTACTCACAGAGACGTGGAT	0.363																																																	0													229	207	214					10																	121580378		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1907G>T	10.37:g.121580378G>T	ENSP00000354519:p.Arg636Ile		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.R636I	ENST00000361976.2	37	c.1907	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085310	0.55861	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.45668	1.14;0.89	5.68	4.67	0.58626	.	0.050241	0.85682	D	0.000000	T	0.34890	0.0913	N	0.22421	0.69	0.80722	D	1	P;P	0.51147	0.942;0.523	P;B	0.51516	0.672;0.141	T	0.03807	-1.1002	10	0.37606	T	0.19	-15.5468	6.8387	0.23951	0.1992:0.0:0.8008:0.0	.	26;636	Q5W135;Q9Y2H2	.;SAC2_HUMAN	I	636;26	ENSP00000354519:R636I;ENSP00000358076:R26I	ENSP00000354519:R636I	R	+	2	0	INPP5F	121570368	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.819000	0.55686	2.675000	0.91044	0.467000	0.42956	AGA	INPP5F	-	pfam_Inositol_phosphatase	ENSG00000198825		0.363	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	-	0	40	0	G	NM_014937		121580378	1	tier1	-	no_errors	ENST00000361976	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	121580378	G	T	121580378	3	4	59	1	0	0	0	0	1	0	0	0	7785	942	33	3	1969	3	INPP5F	10	121580378	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2686658	121580378	13954369	252	16960											
LHPP	64077	genome.wustl.edu	37	chr10	126185530	126185530	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgttctgctctctcctagGcgttactacaaggagacctc	7	12	8	14	2	2	1	0	0	2	1	6	2	4	1	3	2	3	3	3	2	4	4	rs146652970	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr10:126185530G>T	ENST00000368842.5	+	4	496	c.468G>T	c.(466-468)ggG>ggT	p.G156G	LHPP_ENST00000392757.4_Splice_Site_p.G156G|LHPP_ENST00000368839.1_Splice_Site_p.G156G	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	156					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		TCTCTCCTAGGCGTTACTACA	0.602																																					GBM(165;1980 2715 15999 18454)												0								G	,	0,4406		0,0,2203	234	204	214		468,468	-5.7	0.3	10	dbSNP_134	214	4,8596	3.7+/-12.6	0,4,4296	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	LHPP	NM_001167880.1,NM_022126.3	,	0,4,6499	TT,TG,GG		0.0465,0.0,0.0308	,	156/211,156/271	126185530	4,13002	2203	4300	6503	SO:0001630	splice_region_variant	0			AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.468-1G>T	10.37:g.126185530G>T			B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	p.G156	ENST00000368842.5	37	c.468	CCDS7640.1	10																																																																																			LHPP	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA	ENSG00000107902		0.602	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHPP	HGNC	protein_coding	OTTHUMT00000050870.1	-	0	26	0	G	NM_022126	Silent	126185530	1	tier1	rs146652970	no_errors	ENST00000368842	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.886	T	T	126185530	G	T	126185530	5	4	59	1	0	0	0	0	0	0	1	0	8798	1217	42	3	482	3	LHPP	10	126185530	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4605152	126185530	9349217	253	16961											
RNH1	6050	genome.wustl.edu	37	chr11	499889	499889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagagcagctgcaggcccGcatcccccaagaggttgtcg	8	5	13	15	3	0	2	0	0	0	2	2	2	1	2	3	2	3	6	3	2	1	1	rs577864215		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:499889G>T	ENST00000534797.1	-	3	1790	c.383C>A	c.(382-384)gCg>gAg	p.A128E	RNH1_ENST00000397614.1_Missense_Mutation_p.A128E|RNH1_ENST00000533592.1_5'Flank|RNH1_ENST00000438658.2_Missense_Mutation_p.A128E|RNH1_ENST00000356187.5_Missense_Mutation_p.A128E|RNH1_ENST00000397604.3_Missense_Mutation_p.A128E|RNH1_ENST00000354420.2_Missense_Mutation_p.A128E|RNH1_ENST00000397615.2_Missense_Mutation_p.A128E|RNH1_ENST00000533410.1_Missense_Mutation_p.A128E			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.A128V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAGGCCCGCATCCCCCAA	0.682																																																	1	Substitution - Missense(1)	lung(1)											49	47	48					11																	499889		2202	4300	6502	SO:0001583	missense	0				CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"ribonuclease/angiogenin inhibitor"	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.383C>A	11.37:g.499889G>T	ENSP00000433999:p.Ala128Glu		B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	p.A128E	ENST00000534797.1	37	c.383	CCDS7697.1	11	.	.	.	.	.	.	.	.	.	.	G	1.734	-0.493379	0.04322	.	.	ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187;ENST00000527485;ENST00000529368;ENST00000529306;ENST00000531149	T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	3.03	-3.64	0.04515	.	1.099880	0.07135	N	0.846309	T	0.35537	0.0935	L	0.37507	1.11	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.23013	-1.0200	10	0.10902	T	0.67	.	0.4476	0.00496	0.2248:0.1465:0.2564:0.3723	.	128	P13489	RINI_HUMAN	E	128	ENSP00000433999:A128E;ENSP00000380738:A128E;ENSP00000380739:A128E;ENSP00000380729:A128E;ENSP00000435594:A128E;ENSP00000416589:A128E;ENSP00000346402:A128E;ENSP00000348515:A128E;ENSP00000435748:A128E;ENSP00000435057:A128E;ENSP00000434947:A128E;ENSP00000435798:A128E	ENSP00000346402:A128E	A	-	2	0	RNH1	489889	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.090000	0.11163	-0.761000	0.04670	-0.333000	0.08304	GCG	RNH1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000023191		0.682	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNH1	HGNC	protein_coding	OTTHUMT00000384301.1		0	71	0	G	NM_203389		499889	-1			no_errors	ENST00000354420	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	T	T	499889	G	T	499889	3	4	59	1	0	0	0	0	1	0	0	0	13549	1087	38	2	1030	2	RNH1	11	499889	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		499889	134506627	254	16962											
DRD4	1815	genome.wustl.edu	37	chr11	640565	640565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttcaacgccgagttcCgcaacgtcttccgcaaggcc	7	9	9	16	5	3	0	1	0	2	0	5	1	5	0	4	1	2	3	4	1	3	3	rs377281442		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:640565C>T	ENST00000176183.5	+	4	1234	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C		NM_000797.3	NP_000788.2	P21917	DRD4_HUMAN	dopamine receptor D4	456					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult locomotory behavior (GO:0008344)|arachidonic acid secretion (GO:0050482)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|cellular calcium ion homeostasis (GO:0006874)|circadian rhythm (GO:0007623)|dopamine metabolic process (GO:0042417)|dopamine receptor signaling pathway (GO:0007212)|fear response (GO:0042596)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein secretion (GO:0050709)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|olfactory learning (GO:0008355)|photoperiodism (GO:0009648)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of kinase activity (GO:0033674)|positive regulation of penile erection (GO:0060406)|positive regulation of sodium:proton antiporter activity (GO:0032417)|regulation of calcium-mediated signaling (GO:0050848)|regulation of circadian rhythm (GO:0042752)|regulation of dopamine metabolic process (GO:0042053)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of neurotransmitter secretion (GO:0046928)|response to amphetamine (GO:0001975)|response to histamine (GO:0034776)|response to steroid hormone (GO:0048545)|retina development in camera-type eye (GO:0060041)|short-term memory (GO:0007614)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)	cell cortex (GO:0005938)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|vesicle membrane (GO:0012506)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)|SH3 domain binding (GO:0017124)			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Ziprasidone(DB00246)	CGCCGAGTTCCGCAACGTCTT	0.697																																																	0									CYS/ARG	0,4406		0,0,2203	93	79	84		1222	2	1	11		84	1,8595	1.2+/-3.3	0,1,4297	no	missense	DRD4	NM_000797.3	180	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	408/420	640565	1,13001	2203	4298	6501	SO:0001583	missense	0			L12398	CCDS7710.1	11p15.5	2012-08-08			ENSG00000069696	ENSG00000069696		"GPCR / Class A : Dopamine receptors"	3025	protein-coding gene	gene with protein product		126452					Standard	NM_000797		Approved		uc001lqp.2	P21917	OTTHUMG00000133312	ENST00000176183.5:c.1222C>T	11.37:g.640565C>T	ENSP00000176183:p.Arg408Cys		B0M0J7|Q7Z7Q5|Q8NGM5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt	p.R408C	ENST00000176183.5	37	c.1222	CCDS7710.1	11	.	.	.	.	.	.	.	.	.	.	c	20.1	3.933167	0.73442	0.0	1.16E-4	ENSG00000069696	ENST00000176183	T	0.58358	0.34	3.02	1.98	0.26296	.	0.071537	0.51477	D	0.000097	T	0.66356	0.2781	.	.	.	0.51767	D	0.999931	D	0.89917	1.0	D	0.77557	0.99	T	0.68550	-0.5379	9	0.87932	D	0	.	7.67	0.28453	0.4648:0.5351:0.0:0.0	.	456	P21917	DRD4_HUMAN	C	408	ENSP00000176183:R408C	ENSP00000176183:R408C	R	+	1	0	DRD4	630565	1.000000	0.71417	0.967000	0.41034	0.954000	0.61252	2.088000	0.41663	1.709000	0.51313	0.457000	0.33378	CGC	DRD4	-	prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	ENSG00000069696		0.697	DRD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD4	HGNC	protein_coding	OTTHUMT00000257109.1	-	0	38	0	C	NM_000797		640565	1	tier1	-	no_errors	ENST00000176183	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	T	T	640565	C	T	640565	3	4	59	1	0	0	0	0	1	0	0	0	4773	652	23	1	1236	1	DRD4	11	640565	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	140676	640565	134365951	255	16963											
SLC25A22	79751	genome.wustl.edu	37	chr11	792616	792616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggctccgcagcaggtcgCgggtcagctgggtggccgtg	4	6	18	13	5	1	0	1	0	0	0	3	0	2	0	2	5	2	4	2	5	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:792616C>T	ENST00000320230.5	-	7	1005	c.524G>A	c.(523-525)cGc>cAc	p.R175H	CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.R175H	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	175					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCAGGTCGCGGGTCAGCTG	0.721																																					Colon(93;848 1468 3270 23355 49636)												0													9	11	11					11																	792616		2183	4274	6457	SO:0001583	missense	0			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"Solute carriers"	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.524G>A	11.37:g.792616C>T	ENSP00000322020:p.Arg175His		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier	p.R175H	ENST00000320230.5	37	c.524	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	c	15.54	2.864911	0.51482	.	.	ENSG00000177542	ENST00000320230;ENST00000531214;ENST00000481290;ENST00000531437	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	3.51	3.51	0.40186	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.73753	2.245	0.80722	D	1	P	0.47841	0.901	P	0.55055	0.767	D	0.86396	0.1739	10	0.38643	T	0.18	-30.6309	15.5948	0.76569	0.0:1.0:0.0:0.0	.	175	Q9H936	GHC1_HUMAN	H	175;175;200;171	ENSP00000322020:R175H;ENSP00000437236:R175H;ENSP00000431829:R200H;ENSP00000435862:R171H	ENSP00000322020:R175H	R	-	2	0	SLC25A22	782616	0.806000	0.28996	0.987000	0.45799	0.021000	0.10359	1.919000	0.40015	1.954000	0.56735	0.506000	0.49869	CGC	SLC25A22	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000177542		0.721	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A22	HGNC	protein_coding	OTTHUMT00000257107.2		0	12	0	C			792616	-1			no_errors	ENST00000320230	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	T	T	792616	C	T	792616	3	4	59	1	0	0	0	0	1	0	0	0	14530	768	27	1	463	1	SLC25A22	11	792616	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	152051	792616	134213900	256	16964											
OR52H1	390067	genome.wustl.edu	37	chr11	5565870	5565870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtaaaccatggggttgAgtgcaggtgggataacaatg	11	9	14	7	1	0	1	0	1	0	0	1	2	1	2	2	4	3	3	2	4	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:5565870A>G	ENST00000322653.4	-	1	909	c.884T>C	c.(883-885)cTc>cCc	p.L295P	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGGGGTTGAGTGCAGGTGG	0.438																																																	0													172	167	169					11																	5565870		2201	4297	6498	SO:0001583	missense	0			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"GPCR / Class A : Olfactory receptors"	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.884T>C	11.37:g.5565870A>G	ENSP00000326259:p.Leu295Pro		B9EH26|Q6IF79	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L295P	ENST00000322653.4	37	c.884	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	A	18.21	3.572449	0.65765	.	.	ENSG00000181616	ENST00000322653	T	0.50813	0.73	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.135771	0.34676	N	0.003763	T	0.76047	0.3933	H	0.96518	3.835	0.47778	D	0.99951	D	0.59357	0.985	P	0.61874	0.895	D	0.84239	0.0471	10	0.87932	D	0	.	13.9278	0.63972	1.0:0.0:0.0:0.0	.	295	Q8NGJ2	O52H1_HUMAN	P	295	ENSP00000326259:L295P	ENSP00000326259:L295P	L	-	2	0	OR52H1	5522446	0.910000	0.30920	0.998000	0.56505	0.893000	0.52053	6.870000	0.75526	1.968000	0.57251	0.528000	0.53228	CTC	OR52H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000181616		0.438	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	-	0	49	0	A	NM_001005289		5565870	-1	tier1	-	no_errors	ENST00000322653	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.589	G	G	5565870	A	G	5565870	3	3	59	1	0	0	0	0	1	0	0	0	11158	304	11	4	81	4	OR52H1	11	5565870	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	4773254	5565870	129440646	257	16965											
NLRP10	338322	genome.wustl.edu	37	chr11	7981789	7981789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgtagaacttcttgatgGcaagtcccaattggtagtcg	10	12	11	8	1	1	2	0	1	1	1	3	2	2	2	1	2	2	4	1	2	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:7981789G>T	ENST00000328600.2	-	2	1531	c.1370C>A	c.(1369-1371)gCc>gAc	p.A457D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	457	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.A457V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCTTGATGGCAAGTCCCAA	0.493																																																	1	Substitution - Missense(1)	urinary_tract(1)											105	116	112					11																	7981789		2201	4296	6497	SO:0001583	missense	0			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"Nucleotide-binding domain and leucine rich repeat containing"	21464	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"	609662	"NACHT, leucine rich repeat and PYD containing 10"	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1370C>A	11.37:g.7981789G>T	ENSP00000327763:p.Ala457Asp		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A457D	ENST00000328600.2	37	c.1370	CCDS7784.1	11	.	.	.	.	.	.	.	.	.	.	G	0	-2.757149	0.00085	.	.	ENSG00000182261	ENST00000328600	D	0.88509	-2.39	4.86	-0.307	0.12777	.	0.523565	0.16143	N	0.227610	T	0.58235	0.2108	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.56269	-0.8007	10	0.12430	T	0.62	.	0.9016	0.01275	0.153:0.2014:0.1721:0.4736	.	457	Q86W26	NAL10_HUMAN	D	457	ENSP00000327763:A457D	ENSP00000327763:A457D	A	-	2	0	NLRP10	7938365	0.000000	0.05858	0.017000	0.16124	0.001000	0.01503	-1.106000	0.03319	0.007000	0.14760	-0.262000	0.10625	GCC	NLRP10	-	NULL	ENSG00000182261		0.493	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP10	HGNC	protein_coding	OTTHUMT00000385705.1		0	27	0	G	NM_176821		7981789	-1			no_errors	ENST00000328600	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.000	T	T	7981789	G	T	7981789	3	4	59	1	0	0	0	0	1	0	0	0	10511	1203	42	3	601	3	NLRP10	11	7981789	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2415919	7981789	127024727	258	16966											
EIF3F	8665	genome.wustl.edu	37	chr11	8015982	8015982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttccgcagcactttaatGggagtccctgggaggaccat	8	10	11	12	1	0	0	0	0	0	0	3	3	3	3	4	3	1	2	4	3	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:8015982G>T	ENST00000533626.1	+	7	1289	c.663G>T	c.(661-663)atG>atT	p.M221I	EIF3F_ENST00000309828.4_Missense_Mutation_p.M221I|EIF3F_ENST00000537635.1_Missense_Mutation_p.M236I|EIF3F_ENST00000449102.2_Missense_Mutation_p.M72I					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCACTTTAATGGGAGTCCCTG	0.498																																																	0													95	78	84					11																	8015982		2201	4296	6497	SO:0001583	missense	0			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.663G>T	11.37:g.8015982G>T	ENSP00000431800:p.Met221Ile			Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.M236I	ENST00000533626.1	37	c.708	CCDS7785.1	11	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818112	0.50633	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	T;T;T;T	0.38560	1.67;1.67;1.67;1.13	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.31065	0.9	0.80722	D	1	B	0.22003	0.063	B	0.17433	0.018	T	0.06162	-1.0842	10	0.32370	T	0.25	1.845	16.5077	0.84277	0.0:0.0:1.0:0.0	.	221	O00303	EIF3F_HUMAN	I	221;236;221;171;72	ENSP00000431800:M221I;ENSP00000442283:M236I;ENSP00000310040:M221I;ENSP00000396929:M72I	ENSP00000310040:M221I	M	+	3	0	EIF3F	7972558	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.144000	0.94629	2.689000	0.91719	0.655000	0.94253	ATG	EIF3F	-	smart_JAB_MPN_dom	ENSG00000175390		0.498	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF3F	HGNC	protein_coding	OTTHUMT00000385713.2	-	0	41	0	G	NM_003754		8015982	1	tier1	-	no_errors	ENST00000537635	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	8015982	G	T	8015982	3	4	59	1	0	0	0	0	1	0	0	0	5032	1348	47	3	681	3	EIF3F	11	8015982	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	34193	8015982	126990534	259	16967											
MICAL2	9645	genome.wustl.edu	37	chr11	12264300	12264300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccttgcctccatgtttgGacacggggatttcccgcagg	6	11	11	13	2	1	0	1	0	0	0	3	2	3	2	4	4	1	2	4	4	0	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:12264300G>T	ENST00000256194.4	+	20	2927	c.2639G>T	c.(2638-2640)gGa>gTa	p.G880V	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.G880V|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	880					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCCATGTTTGGACACGGGGAT	0.532																																																	0													90	91	91					11																	12264300		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2639G>T	11.37:g.12264300G>T	ENSP00000256194:p.Gly880Val		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.G880V	ENST00000256194.4	37	c.2639	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702856	0.48307	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.63255	0.01;-0.03	6.07	5.11	0.69529	.	0.213990	0.30356	N	0.009801	T	0.67002	0.2847	L	0.27053	0.805	0.80722	D	1	D;B	0.64830	0.994;0.335	P;B	0.60886	0.88;0.058	T	0.66484	-0.5912	10	0.44086	T	0.13	.	18.7119	0.91661	0.0:0.1258:0.8742:0.0	.	880;880	G3XAC8;O94851	.;MICA2_HUMAN	V	880	ENSP00000256194:G880V;ENSP00000344894:G880V	ENSP00000256194:G880V	G	+	2	0	MICAL2	12220876	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.941000	0.63540	2.884000	0.98904	0.655000	0.94253	GGA	MICAL2	-	NULL	ENSG00000133816		0.532	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0	23	0	G	NM_014632		12264300	1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	12264300	G	T	12264300	3	4	59	1	0	0	0	0	1	0	0	0	9608	1174	41	3	2709	3	MICAL2	11	12264300	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4248318	12264300	122742216	260	16968											
SPON1	10418	genome.wustl.edu	37	chr11	14287100	14287100	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcccatggacggcctggtCagaatgcaccaaactgtgcg	9	6	13	13	3	1	1	1	0	0	1	1	2	1	2	3	3	3	1	3	3	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:14287100C>T	ENST00000534587.1	-	0	38				SPON1_ENST00000310358.7_RNA																							ACGGCCTGGTCAGAATGCACC	0.498																																																	0													62	62	62					11																	14287100		1981	4158	6139			0																															11.37:g.14287100C>T				RNA	SNP	-	NULL	ENST00000534587.1	37	NULL		11	.	.	.	.	.	.	.	.	.	.	C	42	9.206269	0.99099	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.7	5.7	0.88788	.	0.057003	0.64402	D	0.000003	T	0.59293	0.2183	.	.	.	0.39503	D	0.968221	B	0.28128	0.201	B	0.28385	0.089	T	0.65998	-0.6032	7	0.87932	D	0	.	17.3401	0.87293	0.0:1.0:0.0:0.0	.	764	Q9HCB6	SPON1_HUMAN	L	763	.	ENSP00000309297:S763L	S	+	2	0	SPON1	14243676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.688000	0.91661	0.655000	0.94253	TCA	SPON1	-	-	ENSG00000152268		0.498	RP11-21L19.1-001	KNOWN	basic	antisense	SPON1	HGNC	antisense	OTTHUMT00000386031.1	-	0	50	0	C			14287100	1	tier1	-	no_errors	ENST00000310358	ensembl	human	known	74_37	rna	42.31	30	22	SNP	1.000	T	T	14287100	C	T	14287100	1	4	59	0	1	0	0	0	0	0	0	0	15129	838	29	3		3	SPON1	11	14287100	RNA	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2022800	14287100	120719416	261	16969											
IGSF22	283284	genome.wustl.edu	37	chr11	18739479	18739479	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgcccccactcataccCagcactgtgagctctgcact	8	9	7	17	0	2	1	1	1	1	0	2	1	2	1	3	0	6	4	3	0	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:18739479C>T	ENST00000513874.1	-	9	1111	c.972G>A	c.(970-972)ctG>ctA	p.L324L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	324										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CACTCATACCCAGCACTGTGA	0.537																																																	0													123	125	124					11																	18739479		2114	4223	6337	SO:0001630	splice_region_variant	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.973+1G>A	11.37:g.18739479C>T			A6NNA0|D6RGV7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L324	ENST00000513874.1	37	c.972	CCDS41625.2	11																																																																																			IGSF22	-	smart_Ig_sub	ENSG00000179057		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	-	0	55	0	C	NM_173588	Silent	18739479	-1	tier1	-	no_errors	ENST00000513874	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.866	T	T	18739479	C	T	18739479	5	4	59	1	0	0	0	0	0	0	1	0	7627	608	21	3	3068	3	IGSF22	11	18739479	Splice_Site	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4452379	18739479	116267037	262	16970											
BBOX1	8424	genome.wustl.edu	37	chr11	27147227	27147227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgataaaggccaagtggttcGcatcaacttcaataacgcaa	15	9	8	9	2	2	1	2	1	0	0	3	1	2	1	1	2	2	3	1	2	7	4	rs202026071		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:27147227G>A	ENST00000529202.1	+	7	1202	c.863G>A	c.(862-864)cGc>cAc	p.R288H	RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000263182.3_Missense_Mutation_p.R288H|BBOX1_ENST00000525090.1_Missense_Mutation_p.R288H|BBOX1_ENST00000528583.1_Missense_Mutation_p.R288H|RP11-1L12.3_ENST00000525302.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	288					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.R288H(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	caagtggttcgcatcaacttc	0.338																																																	1	Substitution - Missense(1)	ovary(1)											88	73	78					11																	27147227		2198	4298	6496	SO:0001583	missense	0			AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.863G>A	11.37:g.27147227G>A	ENSP00000435781:p.Arg288His		B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase	p.R288H	ENST00000529202.1	37	c.863	CCDS7862.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428881	0.83667	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7	6.03	5.13	0.70059	.	0.102971	0.64402	D	0.000003	D	0.88614	0.6484	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.87848	0.2656	10	0.39692	T	0.17	.	14.0118	0.64503	0.0726:0.0:0.9274:0.0	.	288	O75936	BODG_HUMAN	H	288	ENSP00000435781:R288H;ENSP00000263182:R288H;ENSP00000434918:R288H;ENSP00000433772:R288H	ENSP00000263182:R288H	R	+	2	0	BBOX1	27103803	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.829000	0.69316	1.560000	0.49568	0.655000	0.94253	CGC	BBOX1	-	pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase	ENSG00000129151		0.338	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBOX1	HGNC	protein_coding	OTTHUMT00000387946.1		0	27	0	G	NM_003986		27147227	1			no_errors	ENST00000263182	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	27147227	G	A	27147227	3	1	59	1	0	0	0	0	1	0	0	0	1335	1087	38	1	885	1	BBOX1	11	27147227	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	8407748	27147227	107859289	263	16971											
HSD17B12	51144	genome.wustl.edu	37	chr11	43772501	43772501	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattggaaaatcatatgcAgaagaggtaggtgattttca	15	11	12	3	0	2	3	2	1	0	2	2	5	2	5	0	4	1	2	0	4	6	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:43772501A>G	ENST00000278353.4	+	2	320	c.201A>G	c.(199-201)gcA>gcG	p.A67A	HSD17B12_ENST00000529261.1_3'UTR|HSD17B12_ENST00000395700.4_Silent_p.A67A	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	67					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						AATCATATGCAGAAGAGGTAG	0.294																																					Ovarian(58;548 1143 13948 16572 34258)												0													114	105	108					11																	43772501		2203	4300	6503	SO:0001819	synonymous_variant	0			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	18646	protein-coding gene	gene with protein product	"3-ketoacyl-CoA reductase", "short chain dehydrogenase/reductase family 12C, member 1"	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.201A>G	11.37:g.43772501A>G			A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A67	ENST00000278353.4	37	c.201	CCDS7905.1	11																																																																																			HSD17B12	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	ENSG00000149084		0.294	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	HGNC	protein_coding	OTTHUMT00000389594.1	-	0	38	0	A			43772501	1	tier1	-	no_errors	ENST00000278353	ensembl	human	known	74_37	silent	24.49	37	12	SNP	1.000	G	G	43772501	A	G	43772501	2	3	59	1	0	0	0	0	0	0	0	1	7408	175	7	4		4	HSD17B12	11	43772501	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	16625274	43772501	91234015	264	16972											
ACCS	84680	genome.wustl.edu	37	chr11	44095008	44095008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccagctgagtcagcgCgacatgcagagggtggagcc	8	6	15	12	2	1	2	1	1	0	1	2	4	2	3	3	2	4	2	3	2	0	0	rs373648157		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:44095008C>T	ENST00000263776.8	+	4	794	c.360C>T	c.(358-360)cgC>cgT	p.R120R	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Intron|CTD-2609K8.3_ENST00000531268.1_RNA	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	120					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGAGTCAGCGCGACATGCAGA	0.582													C|||	1	0.000199681	0	0	5008	,	,		19205	0		0	False		,,,				2504	0.001				Esophageal Squamous(158;148 1889 8077 23160 41213)												0								C	,	0,4406		0,0,2203	94	66	76		360,360	-10.9	0.4	11		76	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	ACCS	NM_001127219.1,NM_032592.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	120/502,120/502	44095008	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.360C>T	11.37:g.44095008C>T			B4E219|Q8WUL4|Q96LX5	Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R120	ENST00000263776.8	37	c.360	CCDS7907.1	11																																																																																			ACCS	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000110455		0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	-	0	42	0	C	NM_032592		44095008	1	tier1	-	no_errors	ENST00000263776	ensembl	human	known	74_37	silent	41.46	24	17	SNP	0.038	T	T	44095008	C	T	44095008	2	4	59	1	0	0	0	0	0	0	0	1	133	755	27	1		1	ACCS	11	44095008	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	322507	44095008	90911508	265	16973											
OR4A47	403253	genome.wustl.edu	37	chr11	48510431	48510431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtactttttgttatgttCttgctcttctacattttgac	8	21	5	7	0	3	1	0	1	3	0	3	1	3	1	0	0	3	4	0	0	4	10			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:48510431C>A	ENST00000446524.1	+	1	163	c.87C>A	c.(85-87)ttC>ttA	p.F29L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTTATGTTCTTGCTCTTCT	0.443																																																	0													36	34	35					11																	48510431		2200	4277	6477	SO:0001583	missense	0			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.87C>A	11.37:g.48510431C>A	ENSP00000412752:p.Phe29Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F29L	ENST00000446524.1	37	c.87	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	8.248	0.808330	0.16467	.	.	ENSG00000237388	ENST00000446524	T	0.04454	3.62	4.91	-3.13	0.05266	.	0.224310	0.31554	N	0.007451	T	0.03827	0.0108	L	0.56124	1.755	0.09310	N	1	P	0.50528	0.936	B	0.37387	0.248	T	0.35126	-0.9801	10	0.72032	D	0.01	.	6.0913	0.19995	0.1324:0.3168:0.0:0.5508	.	29	Q6IF82	O4A47_HUMAN	L	29	ENSP00000412752:F29L	ENSP00000412752:F29L	F	+	3	2	OR4A47	48467007	0.000000	0.05858	0.004000	0.12327	0.019000	0.09904	-1.716000	0.01878	-0.402000	0.07633	-0.314000	0.08810	TTC	OR4A47	-	prints_GPCR_Rhodpsn	ENSG00000237388		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	-	0	44	0	C	NM_001005512		48510431	1	tier1	-	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.004	A	A	48510431	C	A	48510431	3	1	59	1	0	0	0	0	1	0	0	0	11081	912	32	3	89	3	OR4A47	11	48510431	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4415423	48510431	86496085	266	16974											
OR5T3	390154	genome.wustl.edu	37	chr11	56019748	56019748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatggacaagttgtcatcaGgtttggatatatacaggaat	15	12	10	4	0	2	0	2	0	0	0	2	3	2	3	0	4	1	2	0	4	6	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:56019748G>T	ENST00000303059.3	+	1	73	c.73G>T	c.(73-75)Ggt>Tgt	p.G25C		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G25C(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTGTCATCAGGTTTGGATAT	0.373																																																	1	Substitution - Missense(1)	lung(1)											86	84	84					11																	56019748		2201	4295	6496	SO:0001583	missense	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.73G>T	11.37:g.56019748G>T	ENSP00000305403:p.Gly25Cys		Q6IFC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G25C	ENST00000303059.3	37	c.73	CCDS31524.1	11	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420746	0.42918	.	.	ENSG00000172489	ENST00000303059	T	0.02216	4.39	4.56	-2.4	0.06583	.	7.887880	0.01204	U	0.007653	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	D	0.61080	0.989	P	0.46320	0.512	T	0.28839	-1.0031	10	0.62326	D	0.03	.	4.5857	0.12280	0.3206:0.0:0.3848:0.2945	.	25	Q8NGG3	OR5T3_HUMAN	C	25	ENSP00000305403:G25C	ENSP00000305403:G25C	G	+	1	0	OR5T3	55776324	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.172000	0.09868	-0.566000	0.06054	0.643000	0.83706	GGT	OR5T3	-	NULL	ENSG00000172489		0.373	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1		0	34	0	G	NM_001004747		56019748	1			no_errors	ENST00000303059	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	56019748	G	T	56019748	3	4	59	1	0	0	0	0	1	0	0	0	11222	1000	35	3	75	3	OR5T3	11	56019748	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7509317	56019748	78986768	267	16975											
APLNR	187	genome.wustl.edu	37	chr11	57003456	57003456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtagctggctgacttCtccccactgctgctgtggga	7	10	13	11	0	1	2	0	1	1	1	2	4	1	3	2	2	3	5	2	2	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:57003456C>A	ENST00000606794.1	-	1	1219	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	341					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCTGACTTCTCCCCACTGC	0.637																																																	0													54	45	48					11																	57003456		2201	4296	6497	SO:0001583	missense	0			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.1023G>T	11.37:g.57003456C>A	ENSP00000475344:p.Glu341Asp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.E341D	ENST00000606794.1	37	c.1023	CCDS7950.1	11	.	.	.	.	.	.	.	.	.	.	C	8.340	0.828547	0.16749	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.37584	1.19	5.46	1.22	0.21188	Apelin receptor, C-terminal (1);	0.527072	0.18001	N	0.154912	T	0.20007	0.0481	N	0.08118	0	0.30331	N	0.786663	B	0.02656	0.0	B	0.04013	0.001	T	0.09228	-1.0684	10	0.14252	T	0.57	-14.1665	18.1304	0.89599	0.0:0.4129:0.5871:0.0	.	341	P35414	APJ_HUMAN	D	341;222;260	ENSP00000257254:E341D	ENSP00000257254:E341D	E	-	3	2	APLNR	56760032	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	0.366000	0.20365	-0.026000	0.13895	0.655000	0.94253	GAG	APLNR	-	NULL	ENSG00000134817		0.637	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	-	0	45	0	C	NM_005161		57003456	-1	tier1	-	no_errors	ENST00000257254	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.999	A	A	57003456	C	A	57003456	3	1	59	1	0	0	0	0	1	0	0	0	777	912	32	3	123	3	APLNR	11	57003456	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	983708	57003456	78003060	268	16976											
SLC43A1	8501	genome.wustl.edu	37	chr11	57268693	57268693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagtggcagggtggtggcGctgagcacgaaggaaccaat	10	5	16	10	2	0	1	0	1	0	0	0	3	0	2	2	5	2	3	2	5	3	0	rs139021670	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:57268693G>T	ENST00000278426.3	-	3	619	c.264C>A	c.(262-264)agC>agA	p.S88R	SLC43A1_ENST00000528450.1_Missense_Mutation_p.S88R|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGGTGGTGGCGCTGAGCACGA	0.652																																																	0													96	84	88					11																	57268693		2201	4296	6497	SO:0001583	missense	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.264C>A	11.37:g.57268693G>T	ENSP00000278426:p.Ser88Arg			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S88R	ENST00000278426.3	37	c.264	CCDS7958.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.4|20.4	3.983575|3.983575	0.74474|0.74474	.|.	.|.	ENSG00000149150|ENSG00000149150	ENST00000525764|ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263	.|T;T;T;T	.|0.69435	.|-0.4;-0.4;-0.4;-0.4	5.33|5.33	-9.83|-9.83	0.00482|0.00482	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.081063	.|0.85682	.|D	.|0.000000	T|T	0.73552|0.73552	0.3601|0.3601	M|M	0.78049|0.78049	2.395|2.395	0.37941|0.37941	D|D	0.932322|0.932322	.|D	.|0.64830	.|0.994	.|D	.|0.66716	.|0.946	D|D	0.86567|0.86567	0.1845|0.1845	5|10	.|0.25751	.|T	.|0.34	-21.2337|-21.2337	16.1792|16.1792	0.81889|0.81889	0.4316:0.0:0.5684:0.0|0.4316:0.0:0.5684:0.0	.|.	.|88	.|O75387	.|LAT3_HUMAN	S|R	34|88	.|ENSP00000278426:S88R;ENSP00000435673:S88R;ENSP00000435647:S88R;ENSP00000435486:S88R	.|ENSP00000278426:S88R	R|S	-|-	1|3	0|2	SLC43A1|SLC43A1	57025269|57025269	0.021000|0.021000	0.18746|0.18746	0.423000|0.423000	0.26634|0.26634	0.834000|0.834000	0.47266|0.47266	-1.013000|-1.013000	0.03645|0.03645	-2.396000|-2.396000	0.00582|0.00582	-1.170000|-1.170000	0.01741|0.01741	CGC|AGC	SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000149150		0.652	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1		0	22	0	G	NM_003627		57268693	-1			no_errors	ENST00000278426	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.650	T	T	57268693	G	T	57268693	3	4	59	1	0	0	0	0	1	0	0	0	14677	1078	38	2	1467	2	SLC43A1	11	57268693	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	265237	57268693	77737823	269	16977											
SLC22A24	283238	genome.wustl.edu	37	chr11	62850901	62850901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcaagttgagtatcaGgccataaaagggtacagtga	13	9	13	6	0	1	2	1	2	0	0	1	2	1	2	1	2	3	5	1	2	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:62850901G>A	ENST00000417740.1	-	7	1540	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L		NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	0					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						TTGAGTATCAGGCCATAAAAG	0.403																																																	0													106	93	97					11																	62850901		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"Solute carriers"	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.1099C>T	11.37:g.62850901G>A				Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L367	ENST00000417740.1	37	c.1099		11																																																																																			SLC22A24	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197658		0.403	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	-	0	17	0	G	NM_173586		62850901	-1	tier1	-	no_errors	ENST00000417740	ensembl	human	putative	74_37	silent	30.77	9	4	SNP	0.793	A	A	62850901	G	A	62850901	2	1	59	1	0	0	0	0	0	0	0	1	14498	991	35	3		3	SLC22A24	11	62850901	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5582208	62850901	72155615	270	16978											
RBM4B	83759	genome.wustl.edu	37	chr11	66444293	66444293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttggttggtacaagtgggGctgatgttacccacgtgtaa	8	13	13	7	1	1	1	0	1	1	0	1	1	1	1	1	4	2	5	1	4	4	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:66444293G>T	ENST00000525754.1	-	1	926	c.258C>A	c.(256-258)agC>agA	p.S86R	RBM4B_ENST00000531969.1_Missense_Mutation_p.S86R|RBM4B_ENST00000310046.4_Missense_Mutation_p.S86R|RBM4B_ENST00000531036.2_Missense_Mutation_p.S86R|RBM4B_ENST00000524637.1_Missense_Mutation_p.S86R			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	86	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|entrainment of circadian clock by photoperiod (GO:0043153)|mRNA processing (GO:0006397)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S86R(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TACAAGTGGGGCTGATGTTAC	0.483																																																	1	Substitution - Missense(1)	endometrium(1)											286	255	266					11																	66444293		2200	4295	6495	SO:0001583	missense	0			AK095158	CCDS8149.1, CCDS66144.1	11q13	2013-02-12	2006-01-25	2006-01-25				"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	28842	protein-coding gene	gene with protein product			"RNA binding motif protein 30"	RBM30		12477932	Standard	XR_247213		Approved	MGC10871, ZCCHC15, RBM4L, ZCRB3B, ZCCHC21B	uc001ojb.3	Q9BQ04		ENST00000525754.1:c.258C>A	11.37:g.66444293G>T	ENSP00000433071:p.Ser86Arg		B3KT83	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.S86R	ENST00000525754.1	37	c.258	CCDS8149.1	11	.	.	.	.	.	.	.	.	.	.	G	16.48	3.133883	0.56828	.	.	ENSG00000173914	ENST00000525754;ENST00000310046;ENST00000531969;ENST00000524637	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.67	-9.01	0.00744	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.80974	0.4727	M	0.67397	2.05	0.45806	D	0.998685	P	0.41848	0.763	P	0.53313	0.723	D	0.83454	0.0050	10	0.39692	T	0.17	-26.1239	21.6	0.99957	0.1502:0.0:0.8498:0.0	.	86	Q9BQ04	RBM4B_HUMAN	R	86	ENSP00000433071:S86R;ENSP00000310471:S86R;ENSP00000435239:S86R;ENSP00000433113:S86R	ENSP00000310471:S86R	S	-	3	2	RBM4B	66200869	0.033000	0.19621	0.306000	0.25113	0.461000	0.32589	-1.327000	0.02682	-2.239000	0.00711	-1.218000	0.01608	AGC	RBM4B	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000173914		0.483	RBM4B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4B	HGNC	protein_coding	OTTHUMT00000393851.1	-	0	106	0	G	NM_031492		66444293	-1	tier1	-	no_errors	ENST00000310046	ensembl	human	known	74_37	missense	5.88	128	8	SNP	0.930	T	T	66444293	G	T	66444293	3	4	59	1	0	0	0	0	1	0	0	0	13187	1194	42	3	829	3	RBM4B	11	66444293	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3593392	66444293	68562223	271	16979											
ARAP1	116985	genome.wustl.edu	37	chr11	72422123	72422123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcacttcaaacttctGgtccccgatggcagccacgt	8	11	9	13	2	3	1	2	1	1	0	4	2	4	1	3	2	2	1	3	2	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:72422123G>T	ENST00000393609.3	-	9	1358	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	ARAP1_ENST00000426523.1_Missense_Mutation_p.Q141K|ARAP1_ENST00000455638.2_Missense_Mutation_p.Q386K|ARAP1_ENST00000334211.8_Missense_Mutation_p.Q141K|ARAP1_ENST00000429686.1_Missense_Mutation_p.Q141K|ARAP1_ENST00000393605.3_Missense_Mutation_p.Q146K|ARAP1_ENST00000359373.5_Missense_Mutation_p.Q386K	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	386	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCAAACTTCTGGTCCCCGATG	0.542																																					Ovarian(102;1198 1520 13195 17913 37529)												0													128	106	113					11																	72422123		2200	4293	6493	SO:0001583	missense	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1156C>A	11.37:g.72422123G>T	ENSP00000377233:p.Gln386Lys		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.Q386K	ENST00000393609.3	37	c.1156	CCDS41687.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473752	0.84640	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.283649	0.30020	N	0.010601	T	0.71187	0.3310	N	0.17312	0.475	0.29990	N	0.816945	P;D;D;P;P	0.63880	0.89;0.993;0.984;0.89;0.866	P;P;P;P;P	0.52881	0.707;0.675;0.712;0.707;0.583	T	0.72283	-0.4339	10	0.62326	D	0.03	.	16.9389	0.86210	0.0:0.0:1.0:0.0	.	141;141;386;386;146	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	K	386;386;146;141;386;141;141;175	ENSP00000352332:Q386K;ENSP00000390461:Q386K;ENSP00000377230:Q146K;ENSP00000335506:Q141K;ENSP00000377233:Q386K;ENSP00000392264:Q141K;ENSP00000403127:Q141K	ENSP00000335506:Q141K	Q	-	1	0	ARAP1	72099771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.870000	0.56070	2.612000	0.88384	0.655000	0.94253	CAG	ARAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000186635		0.542	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1		0	26	0	G	NM_001040118		72422123	-1			no_errors	ENST00000393609	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	72422123	G	T	72422123	3	4	59	1	0	0	0	0	1	0	0	0	838	1357	47	3	3304	3	ARAP1	11	72422123	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5977830	72422123	62584393	272	16980											
SLCO2B1	11309	genome.wustl.edu	37	chr11	74880255	74880255	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggcttccctgtgcctGcccacaacctcggccccagc	6	8	8	19	1	1	0	1	0	0	0	3	0	2	0	6	2	4	1	6	2	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:74880255G>T	ENST00000289575.5	+	5	881	c.486G>T	c.(484-486)ctG>ctT	p.L162L	SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.L46L|SLCO2B1_ENST00000428359.2_Silent_p.L140L|SLCO2B1_ENST00000525650.1_Silent_p.L18L|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000531756.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	162					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCCTGTGCCTGCCCACAACCT	0.522																																																	0													51	51	51					11																	74880255		2200	4293	6493	SO:0001819	synonymous_variant	0			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"Solute carriers"	10962	protein-coding gene	gene with protein product		604988	"solute carrier family 21 (organic anion transporter), member 9"	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.486G>T	11.37:g.74880255G>T			A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.L162	ENST00000289575.5	37	c.486	CCDS8235.1	11																																																																																			SLCO2B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000137491		0.522	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLCO2B1	HGNC	protein_coding	OTTHUMT00000383933.1	-	0	27	0	G	NM_007256		74880255	1	tier1	-	no_errors	ENST00000289575	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.136	T	T	74880255	G	T	74880255	2	4	59	1	0	0	0	0	0	0	0	1	14772	1306	46	3		3	SLCO2B1	11	74880255	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2458132	74880255	60126261	273	16981											
RAB30	27314	genome.wustl.edu	37	chr11	82693420	82693420	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattcttcagctcgctgctgGgaaacctctctcctttcagc	7	13	7	14	1	4	0	2	0	2	0	7	1	5	1	2	1	4	3	2	1	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:82693420G>T	ENST00000533486.1	-	6	683	c.399C>A	c.(397-399)tcC>tcA	p.S133S	RAB30_ENST00000534141.1_Missense_Mutation_p.P132H|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000260056.2_Silent_p.S133S|RAB30_ENST00000527633.1_Silent_p.S133S	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	133					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTCGCTGCTGGGAAACCTCTC	0.423																																																	0													88	84	86					11																	82693420		2203	4300	6503	SO:0001819	synonymous_variant	0			U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"RAB, member RAS oncogene"	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.399C>A	11.37:g.82693420G>T			Q6FGK1|Q6MZH2|Q96CI8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P132H	ENST00000533486.1	37	c.395	CCDS8264.1	11	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007512	0.54361	.	.	ENSG00000137502	ENST00000534141	T	0.63417	-0.04	5.96	-1.48	0.08745	.	.	.	.	.	T	0.39937	0.1097	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09143	-1.0688	7	.	.	.	.	5.5222	0.16939	0.0666:0.3214:0.3907:0.2213	.	132	Q6MZH2	.	H	132	ENSP00000434974:P132H	.	P	-	2	0	RAB30	82371068	1.000000	0.71417	0.995000	0.50966	0.974000	0.67602	1.825000	0.39081	-0.182000	0.10602	-0.122000	0.15005	CCC	RAB30	-	smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000137502		0.423	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB30	HGNC	protein_coding	OTTHUMT00000392141.1	-	0	26	0	G	NM_014488		82693420	-1	tier1	-	no_errors	ENST00000534141	ensembl	human	putative	74_37	missense	8.00	46	4	SNP	0.998	T	T	82693420	G	T	82693420	2	4	59	1	0	0	0	0	0	0	0	1	12964	1219	43	3		3	RAB30	11	82693420	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7813165	82693420	52313096	274	16982											
FAT3	120114	genome.wustl.edu	37	chr11	92533265	92533265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtacaacactgcactttGaaagtcagatcaatagatag	16	11	7	7	0	2	3	2	1	0	2	2	3	2	3	0	0	3	2	0	0	7	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:92533265G>T	ENST00000298047.6	+	9	7103	c.7086G>T	c.(7084-7086)ttG>ttT	p.L2362F	FAT3_ENST00000525166.1_Missense_Mutation_p.L2212F|FAT3_ENST00000409404.2_Missense_Mutation_p.L2362F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2362	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGCACTTTGAAAGTCAGAT	0.403										TCGA Ovarian(4;0.039)																																							0													115	111	112					11																	92533265		1949	4149	6098	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7086G>T	11.37:g.92533265G>T	ENSP00000298047:p.Leu2362Phe		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L2362F	ENST00000298047.6	37	c.7086		11	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185280	0.09495	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.69926	-0.44;-0.44;-0.44	5.95	2.84	0.33178	.	.	.	.	.	T	0.50769	0.1635	L	0.33668	1.02	0.80722	D	1	B	0.14805	0.011	B	0.16722	0.016	T	0.41270	-0.9518	9	0.21540	T	0.41	.	8.6758	0.34179	0.1238:0.2375:0.6387:0.0	.	2362	Q8TDW7-3	.	F	2362;2362;2212	ENSP00000298047:L2362F;ENSP00000387040:L2362F;ENSP00000432586:L2212F	ENSP00000298047:L2362F	L	+	3	2	FAT3	92172913	0.995000	0.38212	1.000000	0.80357	0.986000	0.74619	0.381000	0.20619	1.509000	0.48786	-0.175000	0.13238	TTG	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.403	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	30	0	G	NM_001008781		92533265	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	T	T	92533265	G	T	92533265	3	4	59	1	0	0	0	0	1	0	0	0	5713	1281	45	3	7120	3	FAT3	11	92533265	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	9839845	92533265	42473251	275	16983											
C11orf75	56935	genome.wustl.edu	37	chr11	93212196	93212196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcggtgatggtggggcGcgtggccacgtacacaaaca	9	7	14	11	4	1	1	1	1	0	0	2	1	1	1	1	5	2	1	1	5	2	1	rs202058974		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:93212196G>A	ENST00000298966.2	-	3	545	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	SMCO4_ENST00000525141.1_Missense_Mutation_p.R54C|SMCO4_ENST00000527149.1_Missense_Mutation_p.R54C	NM_020179.2	NP_064564.1	Q9NRQ5	SMCO4_HUMAN	single-pass membrane protein with coiled-coil domains 4	54						integral component of membrane (GO:0016021)											ATGGTGGGGCGCGTGGCCACG	0.642													G|||	1	0.000199681	8e-04	0	5008	,	,		14007	0		0	False		,,,				2504	0																0								G	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	57	48	51		160	6	1	11		51	1,8595	1.2+/-3.3	0,1,4297	no	missense	C11orf75	NM_020179.2	180	0,3,6496	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	54/60	93212196	3,12995	2201	4298	6499	SO:0001583	missense	0			BC031564	CCDS8292.1	11q21	2013-03-11	2013-03-11	2013-03-11	ENSG00000166002	ENSG00000166002			24810	protein-coding gene	gene with protein product		609477	"chromosome 11 open reading frame 75"	C11orf75		10863097	Standard	NM_020179		Approved	FN5	uc001pds.4	Q9NRQ5	OTTHUMG00000167442	ENST00000298966.2:c.160C>T	11.37:g.93212196G>A	ENSP00000298966:p.Arg54Cys			Missense_Mutation	SNP	NULL	p.R54C	ENST00000298966.2	37	c.160	CCDS8292.1	11	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645817	0.47258	4.54E-4	1.16E-4	ENSG00000166002	ENST00000525141;ENST00000298966;ENST00000527149	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	.	.	.	0.80722	D	1	D	0.71674	0.998	B	0.43838	0.433	T	0.66264	-0.5967	8	0.87932	D	0	-13.645	20.428	0.99075	0.0:0.0:1.0:0.0	.	54	Q9NRQ5	CK075_HUMAN	C	54	.	ENSP00000298966:R54C	R	-	1	0	C11orf75	92851844	1.000000	0.71417	0.980000	0.43619	0.869000	0.49853	4.601000	0.61090	2.837000	0.97791	0.655000	0.94253	CGC	SMCO4	-	NULL	ENSG00000166002		0.642	SMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCO4	HGNC	protein_coding	OTTHUMT00000394630.1	-	0	29	0	G	NM_020179		93212196	-1	tier1	rs202058974	no_errors	ENST00000298966	ensembl	human	known	74_37	missense	57.14	18	24	SNP	0.994	A	A	93212196	G	A	93212196	3	1	59	1	0	0	0	0	1	0	0	0	1668	1087	38	1	23	1	C11orf75	11	93212196	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	678931	93212196	41794320	276	16984											
C11orf54	28970	genome.wustl.edu	37	chr11	93488460	93488460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaaccctgcagatggaGggtgcctactggagaaatac	12	8	13	8	0	0	3	0	1	0	2	0	5	0	4	2	3	5	1	2	3	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:93488460G>T	ENST00000331239.4	+	6	594	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	C11orf54_ENST00000540113.1_Missense_Mutation_p.G120W|C11orf54_ENST00000354421.3_Missense_Mutation_p.G139W|C11orf54_ENST00000528288.1_Missense_Mutation_p.G139W|C11orf54_ENST00000528099.1_Missense_Mutation_p.G139W			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	139					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCAGATGGAGGGTGCCTACT	0.433																																																	0													105	98	101					11																	93488460		2201	4298	6499	SO:0001583	missense	0			AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.415G>T	11.37:g.93488460G>T	ENSP00000331209:p.Gly139Trp		A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Missense_Mutation	SNP	pfam_DUF1907	p.G139W	ENST00000331239.4	37	c.415		11	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826809	0.71143	.	.	ENSG00000182919	ENST00000528288;ENST00000331239;ENST00000528099;ENST00000354421;ENST00000540113;ENST00000530620;ENST00000524485;ENST00000527363;ENST00000526335;ENST00000533154	.	.	.	5.94	5.02	0.67125	Domain of unknown function DUF1907 (1);	0.356623	0.36703	N	0.002455	T	0.62332	0.2419	L	0.53249	1.67	0.35076	D	0.762985	D;P	0.67145	0.996;0.956	P;P	0.58873	0.847;0.694	T	0.74156	-0.3756	9	0.72032	D	0.01	-3.5873	11.5545	0.50739	0.1382:0.0:0.8618:0.0	.	139;139	Q9H0W9;Q9H0W9-3	CK054_HUMAN;.	W	139;139;139;139;120;120;120;139;139;28	.	ENSP00000331209:G139W	G	+	1	0	C11orf54	93128108	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	2.833000	0.48159	1.483000	0.48342	0.591000	0.81541	GGG	C11orf54	-	pfam_DUF1907	ENSG00000182919		0.433	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	C11orf54	HGNC	protein_coding	OTTHUMT00000394671.1		0	70	0	G	NM_014039		93488460	1			no_errors	ENST00000331239	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	93488460	G	T	93488460	3	4	59	1	0	0	0	0	1	0	0	0	1654	1000	35	3	433	3	C11orf54	11	93488460	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	276264	93488460	41518056	277	16985											
CNTN5	53942	genome.wustl.edu	37	chr11	100061924	100061924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcagacgagggaaagtaCgtttgccgaggggaaaacgt	15	6	14	6	4	1	1	1	0	0	1	1	5	1	3	1	3	3	2	1	3	5	2	rs201116802		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:100061924C>T	ENST00000524871.1	+	14	1937	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y	CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.Y549Y|CNTN5_ENST00000418526.2_Silent_p.Y475Y|CNTN5_ENST00000527185.1_Silent_p.Y549Y|CNTN5_ENST00000528682.1_Silent_p.Y549Y	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	549	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGGGAAAGTACGTTTGCCGAG	0.388													C|||	1	0.000199681	0	0	5008	,	,		16165	0		0	False		,,,				2504	0.001																0													70	73	72					11																	100061924		1836	4081	5917	SO:0001819	synonymous_variant	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1647C>T	11.37:g.100061924C>T			A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Y549	ENST00000524871.1	37	c.1647	CCDS53696.1	11																																																																																			CNTN5	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.388	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	38	0	C	NM_014361		100061924	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	silent	53.19	22	25	SNP	0.288	T	T	100061924	C	T	100061924	2	4	59	1	0	0	0	0	0	0	0	1	3651	547	19	1		1	CNTN5	11	100061924	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	6573464	100061924	34944592	278	16986											
KBTBD3	143879	genome.wustl.edu	37	chr11	105923578	105923578	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggactcgttttagaatgttCaagcacatagattagaaaac	15	12	8	6	1	1	3	1	0	0	3	2	4	1	4	0	1	2	3	0	1	7	5	rs371541115		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:105923578C>G	ENST00000526793.1	-	3	1997	c.1838G>C	c.(1837-1839)tGa>tCa	p.*613S	KBTBD3_ENST00000531837.1_Nonstop_Mutation_p.*613S|KBTBD3_ENST00000534815.1_Nonstop_Mutation_p.*534S	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TTAGAATGTTCAAGCACATAG	0.323																																																	0								C	SER/stop,SER/stop	1,4401	2.1+/-5.4	0,1,2200	64	67	66		1838,1838	2.2	0	11		66	0,8596		0,0,4298	no	stop-lost,stop-lost	KBTBD3	NM_152433.3,NM_198439.2	,	0,1,6498	GG,GC,CC		0.0,0.0227,0.0077	,	613/613,613/613	105923578	1,12997	2201	4298	6499	SO:0001578	stop_lost	0			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1838G>C	11.37:g.105923578C>G			Q6N066|Q86X38|Q96NK5	Nonstop_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.*613S	ENST00000526793.1	37	c.1838	CCDS8334.1	11	.	.	.	.	.	.	.	.	.	.	C	1.326	-0.598121	0.03744	2.27E-4	0.0	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	.	.	.	5.34	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5643	0.22503	0.0:0.6197:0.0:0.3803	.	.	.	.	S	534;613;613	.	.	X	-	2	2	KBTBD3	105428788	0.036000	0.19791	0.003000	0.11579	0.342000	0.28953	0.930000	0.28858	0.249000	0.21456	0.586000	0.80456	TGA	KBTBD3	-	NULL	ENSG00000182359		0.323	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD3	HGNC	protein_coding	OTTHUMT00000388705.2	-	0	23	0	C	NM_152433		105923578	-1	tier1	-	no_errors	ENST00000526793	ensembl	human	known	74_37	nonstop	38.71	19	12	SNP	0.005	G	G	105923578	C	G	105923578	4	3	59	1	0	0	0	0	0	0	0	0	8021	837	29	5	4	5	KBTBD3	11	105923578	Nonstop_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	5861654	105923578	29082938	279	16987											
CWF19L2	143884	genome.wustl.edu	37	chr11	107300162	107300162	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatcttctaattttgactGaaatatttccattgactaca	13	16	4	8	0	2	3	0	3	2	0	3	3	3	3	1	0	2	1	1	0	4	8			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:107300162G>A	ENST00000282251.5	-	8	823	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	CWF19L2_ENST00000433523.1_Nonsense_Mutation_p.Q266*	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	266							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AATTTTGACTGAAATATTTCC	0.378																																																	0													28	26	27					11																	107300162		2195	4285	6480	SO:0001587	stop_gained	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.796C>T	11.37:g.107300162G>A	ENSP00000282251:p.Gln266*		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Nonsense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q266*	ENST00000282251.5	37	c.796	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	G	33	5.268131	0.95429	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	.	.	.	5.45	4.54	0.55810	.	0.055713	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.3561	11.7826	0.52023	0.0816:0.0:0.9184:0.0	.	.	.	.	X	266	.	ENSP00000282251:Q266X	Q	-	1	0	CWF19L2	106805372	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	5.032000	0.64140	1.429000	0.47314	0.591000	0.81541	CAG	CWF19L2	-	NULL	ENSG00000152404		0.378	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0	27	0	G	NM_152434		107300162	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	nonsense	47.83	12	11	SNP	1.000	A	A	107300162	G	A	107300162	4	1	59	1	0	0	0	0	0	1	0	0	4081	1299	45	3	1932	3	CWF19L2	11	107300162	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1376584	107300162	27706354	280	16988											
ARHGEF12	23365	genome.wustl.edu	37	chr11	120328447	120328447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgactgaacatgggaCaccaaagccctttcgaaagt	13	8	11	9	1	0	2	0	2	0	0	1	4	0	3	2	2	2	0	2	2	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:120328447C>T	ENST00000397843.2	+	24	2373	c.2207C>T	c.(2206-2208)aCa>aTa	p.T736I	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T633I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T717I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	736					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAACATGGGACACCAAAGCCC	0.333			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													71	62	64					11																	120328447		1843	4076	5919	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"Rho guanine nucleotide exchange factors"	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.2207C>T	11.37:g.120328447C>T	ENSP00000380942:p.Thr736Ile		O15086|Q6P526	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T717I	ENST00000397843.2	37	c.2150	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857164	0.91433	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.70399	-0.37;-0.48;-0.36	5.66	5.66	0.87406	.	0.000000	0.50627	D	0.000106	T	0.81725	0.4883	M	0.69823	2.125	0.53005	D	0.999966	D;D;D	0.65815	0.983;0.995;0.991	P;D;P	0.65010	0.78;0.931;0.854	T	0.75365	-0.3343	10	0.13470	T	0.59	-14.3149	19.7147	0.96110	0.0:1.0:0.0:0.0	.	633;717;736	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	I	736;717;633	ENSP00000380942:T736I;ENSP00000349056:T717I;ENSP00000432984:T633I	ENSP00000349056:T717I	T	+	2	0	ARHGEF12	119833657	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.847000	0.62867	2.838000	0.97847	0.591000	0.81541	ACA	ARHGEF12	-	NULL	ENSG00000196914		0.333	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	-	0	37	0	C	NM_015313		120328447	1	tier1	-	no_errors	ENST00000356641	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T	T	120328447	C	T	120328447	3	4	59	1	0	0	0	0	1	0	0	0	897	478	17	3	2301	3	ARHGEF12	11	120328447	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	13028285	120328447	14678069	281	16989											
TECTA	7007	genome.wustl.edu	37	chr11	121060584	121060584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggaggacggcaagagctGcagaggtagacactcttcta	12	6	14	9	1	2	3	0	0	2	3	2	5	2	5	0	4	2	5	0	4	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:121060584G>T	ENST00000392793.1	+	23	6633	c.6362G>T	c.(6361-6363)tGc>tTc	p.C2121F	TECTA_ENST00000264037.2_Missense_Mutation_p.C2121F			O75443	TECTA_HUMAN	tectorin alpha	2121					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCAAGAGCTGCAGAGGTAGA	0.567																																																	0													84	76	79					11																	121060584		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.6362G>T	11.37:g.121060584G>T	ENSP00000376543:p.Cys2121Phe			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.C2121F	ENST00000392793.1	37	c.6362	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515683	0.85389	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.99953	-8.81;-8.81	5.71	5.71	0.89125	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99951	0.9979	M	0.83483	2.645	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.95521	0.8594	10	0.87932	D	0	.	19.4679	0.94950	0.0:0.0:1.0:0.0	.	2121	O75443	TECTA_HUMAN	F	2121	ENSP00000376543:C2121F;ENSP00000264037:C2121F	ENSP00000264037:C2121F	C	+	2	0	TECTA	120565794	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.434000	0.97515	2.698000	0.92095	0.561000	0.74099	TGC	TECTA	-	smart_EG-like_dom	ENSG00000109927		0.567	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	31	0	G	NM_005422		121060584	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	47.06	9	8	SNP	1.000	T	T	121060584	G	T	121060584	3	4	59	1	0	0	0	0	1	0	0	0	15794	1319	46	3	6448	3	TECTA	11	121060584	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	732137	121060584	13945932	282	16990											
OPCML	4978	genome.wustl.edu	37	chr11	132306622	132306622	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcacagctcaggatgcccTtctgaccgactgaaacacca	11	8	7	15	1	3	2	2	2	1	0	3	4	3	3	3	1	3	1	3	1	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr11:132306622T>G	ENST00000331898.7	-	5	1294	c.716A>C	c.(715-717)aAg>aCg	p.K239T	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.K239T|OPCML_ENST00000524381.1_Missense_Mutation_p.K232T|OPCML_ENST00000374778.4_Missense_Mutation_p.K198T	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	239	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGGATGCCCTTCTGACCGAC	0.507																																																	0													133	116	122					11																	132306622		2201	4297	6498	SO:0001583	missense	0			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"Immunoglobulin superfamily / I-set domain containing"	8143	protein-coding gene	gene with protein product	"IgLON family member 1"	600632	"opioid-binding protein/cell adhesion molecule-like"			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.716A>C	11.37:g.132306622T>G	ENSP00000330862:p.Lys239Thr		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K239T	ENST00000331898.7	37	c.716	CCDS8492.1	11	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544578	0.45280	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	N	0.04787	-0.16	0.80722	D	1	B;B;B;B	0.20164	0.042;0.042;0.042;0.042	B;B;B;B	0.20577	0.03;0.03;0.017;0.017	T	0.32851	-0.9891	10	0.29301	T	0.29	-20.5111	15.5993	0.76611	0.0:0.0:0.0:1.0	.	239;232;238;239	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	T	239;232;198;206;239	ENSP00000330862:K239T;ENSP00000434750:K232T;ENSP00000363910:K198T;ENSP00000445496:K239T	ENSP00000330862:K239T	K	-	2	0	OPCML	131811832	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	4.805000	0.62561	2.158000	0.67659	0.528000	0.53228	AAG	OPCML	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000183715		0.507	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000374689.3	-	0	24	0	T	NM_001012393		132306622	-1	tier1	-	no_errors	ENST00000541867	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	G	G	132306622	T	G	132306622	3	3	59	1	0	0	0	0	1	0	0	0	10913	1609	56	4	333	4	OPCML	11	132306622	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	11246038	132306622	2699894	283	16991											
CD163L1	283316	genome.wustl.edu	37	chr12	7527243	7527243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacacaccacgtgggcatcGctcaggtcccagccgtcatc	8	7	10	16	3	2	1	2	1	0	0	5	1	3	1	3	2	1	2	3	2	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:7527243G>A	ENST00000313599.3	-	13	3261	c.3204C>T	c.(3202-3204)agC>agT	p.S1068S	CD163L1_ENST00000396630.1_Silent_p.S1068S|CD163L1_ENST00000416109.2_Silent_p.S1078S|CD163L1_ENST00000544331.1_5'Flank			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1068	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CGTGGGCATCGCTCAGGTCCC	0.622											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Deletion - Frameshift(1)|Substitution - coding silent(1)	ovary(1)|large_intestine(1)											72	64	67					12																	7527243		2203	4300	6503	SO:0001819	synonymous_variant	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3204C>T	12.37:g.7527243G>A		642	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Silent	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.S1068	ENST00000313599.3	37	c.3204	CCDS8577.1	12																																																																																			CD163L1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000177675		0.622	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1		0	19	0	G	NM_174941		7527243	-1			no_errors	ENST00000313599	ensembl	human	known	74_37	silent	11.11	16	2	SNP	0.099	A	A	7527243	G	A	7527243	2	1	59	1	0	0	0	0	0	0	0	1	2975	1078	38	1		1	CD163L1	12	7527243	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		7527243	126324652	284	16992											
PLBD1	79887	genome.wustl.edu	37	chr12	14695201	14695201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgatcagctgtgggtagagGtttgtgtagtggtcattcat	7	15	15	4	0	3	2	3	1	0	1	3	2	3	2	0	3	1	4	0	3	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:14695201G>T	ENST00000240617.5	-	3	1012	c.360C>A	c.(358-360)aaC>aaA	p.N120K		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	120					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GTGGGTAGAGGTTTGTGTAGT	0.318																																																	0													217	201	206					12																	14695201		2203	4300	6503	SO:0001583	missense	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"PLB homolog 1 (Dictyostelium)"					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.360C>A	12.37:g.14695201G>T	ENSP00000240617:p.Asn120Lys		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.N120K	ENST00000240617.5	37	c.360	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344544	0.82022	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T;T	0.24151	1.87;1.87	6.02	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	H	0.96175	3.78	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.66728	-0.5850	10	0.87932	D	0	-34.9526	9.7338	0.40376	0.2151:0.0:0.7849:0.0	.	120	Q6P4A8	PLBL1_HUMAN	K	120;73	ENSP00000240617:N120K;ENSP00000438367:N73K	ENSP00000240617:N120K	N	-	3	2	PLBD1	14586468	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	2.595000	0.46197	0.446000	0.26666	0.655000	0.94253	AAC	PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.318	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	-	0	63	0	G	NM_024829		14695201	-1	tier1	-	no_errors	ENST00000240617	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	14695201	G	T	14695201	3	4	59	1	0	0	0	0	1	0	0	0	12064	1252	44	3	1337	3	PLBD1	12	14695201	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7167958	14695201	119156694	285	16993											
IPO8	10526	genome.wustl.edu	37	chr12	30787065	30787065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatccacactattgtcaaGgtcaagtggagtactgaacc	12	11	8	10	0	3	1	3	1	0	0	4	2	4	2	2	2	2	1	2	2	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:30787065G>T	ENST00000256079.4	-	23	3189	c.2851C>A	c.(2851-2853)Ctt>Att	p.L951I	IPO8_ENST00000544829.1_Missense_Mutation_p.L746I	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	951					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTATTGTCAAGGTCAAGTGGA	0.388																																																	0													200	158	172					12																	30787065		2203	4300	6503	SO:0001583	missense	0			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2851C>A	12.37:g.30787065G>T	ENSP00000256079:p.Leu951Ile		B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L951I	ENST00000256079.4	37	c.2851	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	G	11.70	1.718030	0.30503	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.65549	-0.16;-0.16	5.22	4.32	0.51571	Armadillo-type fold (1);	0.274624	0.37136	N	0.002226	T	0.42832	0.1220	N	0.22421	0.69	0.29232	N	0.873201	B;B;B	0.29716	0.243;0.255;0.243	B;B;B	0.25987	0.065;0.057;0.065	T	0.34079	-0.9843	10	0.25106	T	0.35	-18.0004	8.4321	0.32764	0.2345:0.0:0.7655:0.0	.	746;427;951	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	I	951;427;746	ENSP00000256079:L951I;ENSP00000444520:L746I	ENSP00000256079:L951I	L	-	1	0	IPO8	30678332	1.000000	0.71417	0.994000	0.49952	0.687000	0.40016	4.409000	0.59768	1.315000	0.45114	0.655000	0.94253	CTT	IPO8	-	superfamily_ARM-type_fold	ENSG00000133704		0.388	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2		0	47	0	G	NM_006390		30787065	-1			no_errors	ENST00000256079	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.998	T	T	30787065	G	T	30787065	3	4	59	1	0	0	0	0	1	0	0	0	7825	1000	35	3	274	3	IPO8	12	30787065	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	16091864	30787065	103064830	286	16994											
DNM1L	10059	genome.wustl.edu	37	chr12	32896340	32896340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccgggagactcatctttGgtgaagagaactatgtaata	14	11	10	6	1	2	3	1	1	1	2	3	5	3	3	1	2	1	1	1	2	6	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:32896340G>T	ENST00000549701.1	+	20	2281	c.2207G>T	c.(2206-2208)tGg>tTg	p.W736L	DNM1L_ENST00000358214.5_Missense_Mutation_p.W712L|DNM1L_ENST00000452533.2_Missense_Mutation_p.W710L|DNM1L_ENST00000414834.2_Missense_Mutation_p.W533L|DNM1L_ENST00000266481.6_Missense_Mutation_p.W699L|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000547312.1_Missense_Mutation_p.W725L|DNM1L_ENST00000381000.4_Missense_Mutation_p.W738L|DNM1L_ENST00000553257.1_Missense_Mutation_p.W749L			O00429	DNM1L_HUMAN	dynamin 1-like	736					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTCATCTTTGGTGAAGAGAA	0.338																																																	0													93	94	94					12																	32896340		2203	4300	6503	SO:0001583	missense	0			AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.2207G>T	12.37:g.32896340G>T	ENSP00000450399:p.Trp736Leu		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.W749L	ENST00000549701.1	37	c.2246	CCDS8729.1	12	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785278	0.90282	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	D;D;D;D;D;D;D;D	0.91996	-2.95;-2.82;-2.87;-2.86;-2.83;-2.92;-1.7;-2.94	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.997;1.0;1.0;0.997;1.0	D;P;D;D;P;D	0.91635	0.996;0.87;0.999;0.999;0.902;0.999	D	0.95831	0.8858	10	0.87932	D	0	.	19.5745	0.95436	0.0:0.0:1.0:0.0	.	533;763;789;791;752;736	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	L	710;791;749;736;712;699;725;533;738	ENSP00000415131:W710L;ENSP00000449089:W749L;ENSP00000450399:W736L;ENSP00000350948:W712L;ENSP00000266481:W699L;ENSP00000448610:W725L;ENSP00000404160:W533L;ENSP00000370388:W738L	ENSP00000266481:W699L	W	+	2	0	DNM1L	32787607	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.162000	0.94745	2.689000	0.91719	0.591000	0.81541	TGG	DNM1L	-	NULL	ENSG00000087470		0.338	DNM1L-003	KNOWN	basic|CCDS	protein_coding	DNM1L	HGNC	protein_coding	OTTHUMT00000404124.1		0	21	0	G	NM_012062		32896340	1			no_errors	ENST00000553257	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	32896340	G	T	32896340	3	4	59	1	0	0	0	0	1	0	0	0	4685	1357	47	3	2285	3	DNM1L	12	32896340	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2109275	32896340	100955555	287	16995											
LRRK2	120892	genome.wustl.edu	37	chr12	40677810	40677810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcagcttgctcttaaGgaggctggccctggatgtgg	7	11	14	9	0	3	0	2	0	1	0	3	3	3	2	1	5	2	3	1	5	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:40677810G>T	ENST00000298910.7	+	19	2433	c.2375G>T	c.(2374-2376)aGg>aTg	p.R792M	LRRK2_ENST00000343742.2_Missense_Mutation_p.R792M	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	792					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCTCTTAAGGAGGCTGGCC	0.443																																																	0													157	157	157					12																	40677810		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2375G>T	12.37:g.40677810G>T	ENSP00000298910:p.Arg792Met		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R792M	ENST00000298910.7	37	c.2375	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434978	0.25813	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.36699	1.24;1.24	5.05	-0.209	0.13180	Ankyrin repeat-containing domain (1);	0.431488	0.25414	N	0.030854	T	0.30070	0.0753	L	0.29908	0.895	0.09310	N	1	P;D	0.57899	0.651;0.981	B;P	0.49047	0.241;0.599	T	0.28170	-1.0052	9	.	.	.	.	11.3844	0.49776	0.5793:0.0:0.4207:0.0	.	792;792	E9PC85;Q5S007	.;LRRK2_HUMAN	M	792	ENSP00000341930:R792M;ENSP00000298910:R792M	.	R	+	2	0	LRRK2	38964077	0.033000	0.19621	0.017000	0.16124	0.505000	0.33919	0.038000	0.13862	-0.259000	0.09432	-0.229000	0.12294	AGG	LRRK2	-	NULL	ENSG00000188906		0.443	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	28	0	G	XM_058513		40677810	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.006	T	T	40677810	G	T	40677810	3	4	59	1	0	0	0	0	1	0	0	0	9068	1000	35	3	2449	3	LRRK2	12	40677810	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7781470	40677810	93174085	288	16996											
FAM186B	84070	genome.wustl.edu	37	chr12	49993827	49993827	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttctagctggacccatctCcgctgttgctccctggccag	4	13	9	15	1	2	0	0	0	2	0	4	1	3	1	4	2	2	4	4	2	1	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:49993827C>A	ENST00000257894.2	-	4	1757	c.1596G>T	c.(1594-1596)cgG>cgT	p.R532R	PRPF40B_ENST00000508736.1_3'UTR|FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Silent_p.R442R	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	532						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGACCCATCTCCGCTGTTGCT	0.607																																																	0													70	69	69					12																	49993827		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 25"	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.1596G>T	12.37:g.49993827C>A			B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	NULL	p.R532	ENST00000257894.2	37	c.1596	CCDS8788.1	12																																																																																			FAM186B	-	NULL	ENSG00000135436		0.607	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM186B	HGNC	protein_coding	OTTHUMT00000394583.2	-	0	37	0	C	NM_032130		49993827	-1	tier1	-	no_errors	ENST00000257894	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.004	A	A	49993827	C	A	49993827	2	1	59	1	0	0	0	0	0	0	0	1	5531	842	30	3		3	FAM186B	12	49993827	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	9316017	49993827	83858068	289	16997											
FMNL3	91010	genome.wustl.edu	37	chr12	50043574	50043574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaagagcagcatgaagCggtcctcagctgccaactcc	10	7	11	13	1	1	3	1	2	0	1	3	3	3	3	3	1	7	4	3	1	3	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:50043574C>T	ENST00000293590.5	-	18	2368	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R661H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R712H|FMNL3_ENST00000335154.5_Missense_Mutation_p.R712H			Q8IVF7	FMNL3_HUMAN	formin-like 3	712	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGCATGAAGCGGTCCTCAGC	0.607																																																	0													66	73	71					12																	50043574		2119	4234	6353	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2135G>A	12.37:g.50043574C>T	ENSP00000293590:p.Arg712His		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.R712H	ENST00000293590.5	37	c.2135		12	.	.	.	.	.	.	.	.	.	.	C	35	5.431057	0.96150	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.983;0.994;0.998	T	0.65598	-0.6129	10	0.62326	D	0.03	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	661;712;712	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	H	712;712;661;712	ENSP00000335655:R712H;ENSP00000447479:R712H;ENSP00000344311:R661H;ENSP00000293590:R712H	ENSP00000293590:R712H	R	-	2	0	FMNL3	48329841	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.066000	0.57520	2.723000	0.93209	0.655000	0.94253	CGC	FMNL3	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000161791		0.607	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		-	0	18	0	C	NM_175736		50043574	-1	tier1	-	no_errors	ENST00000293590	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	T	T	50043574	C	T	50043574	3	4	59	1	0	0	0	0	1	0	0	0	5975	768	27	1	984	1	FMNL3	12	50043574	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	49747	50043574	83808321	290	16998											
ERBB3	2065	genome.wustl.edu	37	chr12	56495099	56495099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccccacccgggttagaGgaagaggatgtcaacggtta	10	8	12	11	2	2	2	1	0	1	2	3	4	2	4	3	4	1	2	3	4	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:56495099G>T	ENST00000267101.3	+	27	3896	c.3456G>T	c.(3454-3456)gaG>gaT	p.E1152D	ERBB3_ENST00000553131.1_Missense_Mutation_p.E393D|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.E272D|ERBB3_ENST00000450146.2_Missense_Mutation_p.E509D|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1093D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1152					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCGGGTTAGAGGAAGAGGATG	0.572																																																	0													57	57	57					12																	56495099		2203	4300	6503	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3456G>T	12.37:g.56495099G>T	ENSP00000267101:p.Glu1152Asp		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E1152D	ENST00000267101.3	37	c.3456	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936917	0.73557	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.79247	-1.04;-1.01;-1.03;-1.25;-1.02	6.17	1.06	0.20224	.	0.180183	0.39985	N	0.001215	T	0.56140	0.1965	L	0.27053	0.805	0.41381	D	0.987555	P;B;B	0.35155	0.487;0.114;0.067	B;B;B	0.30943	0.122;0.034;0.012	T	0.38824	-0.9643	10	0.22706	T	0.39	.	5.1133	0.14821	0.3813:0.1393:0.4793:0.0	.	1093;272;1152	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	D	1152;509;1093;275;393;272	ENSP00000267101:E1152D;ENSP00000399178:E509D;ENSP00000408340:E1093D;ENSP00000449129:E393D;ENSP00000448729:E272D	ENSP00000267101:E1152D	E	+	3	2	ERBB3	54781366	0.996000	0.38824	0.999000	0.59377	0.981000	0.71138	0.153000	0.16323	0.184000	0.20083	-0.136000	0.14681	GAG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.572	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	-	0	22	0	G			56495099	1	tier1	-	no_errors	ENST00000267101	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.998	T	T	56495099	G	T	56495099	3	4	59	1	0	0	0	0	1	0	0	0	5224	991	35	3	3693	3	ERBB3	12	56495099	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6451525	56495099	77356796	291	16999											
GLI1	2735	genome.wustl.edu	37	chr12	57863271	57863271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaccactccccggcaGggagtgcagccaatacagac	11	4	12	14	1	0	2	0	1	0	1	1	3	1	3	4	2	3	3	4	2	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:57863271G>T	ENST00000228682.2	+	11	1457	c.1366G>T	c.(1366-1368)Ggg>Tgg	p.G456W	GLI1_ENST00000546141.1_Missense_Mutation_p.G415W|GLI1_ENST00000543426.1_Missense_Mutation_p.G328W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	456					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCCCGGCAGGGAGTGCAGC	0.602																																					Pancreas(157;841 1936 10503 41495 50368)												0													79	67	71					12																	57863271		2203	4300	6503	SO:0001583	missense	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1366G>T	12.37:g.57863271G>T	ENSP00000228682:p.Gly456Trp		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G456W	ENST00000228682.2	37	c.1366	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814413	0.70912	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.17213	2.39;2.29;2.39;2.39	4.49	4.49	0.54785	.	0.000000	0.51477	D	0.000081	T	0.39989	0.1099	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.26430	-1.0103	10	0.87932	D	0	.	15.0811	0.72117	0.0:0.0:1.0:0.0	.	456	P08151	GLI1_HUMAN	W	328;456;415;415	ENSP00000437607:G328W;ENSP00000228682:G456W;ENSP00000441006:G415W;ENSP00000434408:G415W	ENSP00000228682:G456W	G	+	1	0	GLI1	56149538	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.462000	0.97649	2.484000	0.83849	0.563000	0.77884	GGG	GLI1	-	NULL	ENSG00000111087		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1		0	40	0	G	NM_005269		57863271	1			no_errors	ENST00000228682	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	57863271	G	T	57863271	3	4	59	1	0	0	0	0	1	0	0	0	6463	1000	35	3	1404	3	GLI1	12	57863271	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1368172	57863271	75988624	292	17000											
AVPR1A	552	genome.wustl.edu	37	chr12	63541337	63541337	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacagtcttgaaggagatgGccactaaaaaacatgtatat	17	9	8	7	0	1	2	0	1	1	1	1	3	1	2	1	2	1	1	1	2	6	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:63541337G>T	ENST00000299178.2	-	2	1164	c.1059C>A	c.(1057-1059)ggC>ggA	p.G353G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	353					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.G353G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GAAGGAGATGGCCACTAAAAA	0.408																																																	1	Substitution - coding silent(1)	large_intestine(1)											161	153	156					12																	63541337		2203	4300	6503	SO:0001819	synonymous_variant	0			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1059C>A	12.37:g.63541337G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.G353	ENST00000299178.2	37	c.1059	CCDS8965.1	12																																																																																			AVPR1A	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn	ENSG00000166148		0.408	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1		0	46	0	G			63541337	-1			no_errors	ENST00000299178	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.862	T	T	63541337	G	T	63541337	2	4	59	1	0	0	0	0	0	0	0	1	1232	1190	42	3		3	AVPR1A	12	63541337	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5678066	63541337	70310558	293	17001											
TRHDE	29953	genome.wustl.edu	37	chr12	72969051	72969051	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagcaccacagaataacTtatttggacaaaggaagctg	16	8	9	8	0	1	2	1	0	0	2	1	4	1	4	1	2	3	2	1	2	5	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:72969051T>A	ENST00000261180.4	+	11	2109	c.2013T>A	c.(2011-2013)acT>acA	p.T671T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	671					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACAGAATAACTTATTTGGACA	0.338																																																	0													73	74	74					12																	72969051		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2013T>A	12.37:g.72969051T>A			A5PL19|Q6UWJ4	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.T671	ENST00000261180.4	37	c.2013	CCDS9004.1	12																																																																																			TRHDE	-	NULL	ENSG00000072657		0.338	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	27	0	T	NM_013381		72969051	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.290	A	A	72969051	T	A	72969051	2	1	59	1	0	0	0	0	0	0	0	1	16527	1596	56	5		5	TRHDE	12	72969051	Silent	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	9427714	72969051	60882844	294	17002											
KIAA1033	23325	genome.wustl.edu	37	chr12	105512234	105512234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtttcaggaactgtcttGctttgttacgaggtgctatg	6	16	11	8	2	2	0	1	0	1	0	3	2	2	1	0	2	4	4	0	2	3	5	rs371615453		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:105512234G>T	ENST00000332180.5	+	7	533	c.446G>T	c.(445-447)tGc>tTc	p.C149F		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAACTGTCTTGCTTTGTTACG	0.343																																																	0													129	120	123					12																	105512234		1844	4089	5933	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.446G>T	12.37:g.105512234G>T	ENSP00000328062:p.Cys149Phe			Missense_Mutation	SNP	NULL	p.C149F	ENST00000332180.5	37	c.446	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	G	29.8	5.040248	0.93630	.	.	ENSG00000136051	ENST00000548195;ENST00000332180	T;T	0.28069	1.63;1.63	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.56769	1.78	0.80722	D	1	D;D	0.53745	0.962;0.962	P;P	0.54590	0.756;0.756	T	0.07195	-1.0785	10	0.21014	T	0.42	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	149;149	B7ZKT9;Q2M389	.;WASH7_HUMAN	F	22;149	ENSP00000450243:C22F;ENSP00000328062:C149F	ENSP00000328062:C149F	C	+	2	0	KIAA1033	104036364	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.605000	0.98321	2.807000	0.96579	0.591000	0.81541	TGC	KIAA1033	-	NULL	ENSG00000136051		0.343	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4		0	36	0	G	NM_015275		105512234	1			no_errors	ENST00000332180	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	105512234	G	T	105512234	3	4	59	1	0	0	0	0	1	0	0	0	8233	1319	46	3	472	3	KIAA1033	12	105512234	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	32543183	105512234	28339661	295	17003											
NUAK1	9891	genome.wustl.edu	37	chr12	106464597	106464597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctccgctgctgatttgccGaatgaggtttttgtgatcga	6	15	11	9	3	1	3	0	3	1	0	3	5	1	3	2	1	2	3	2	1	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:106464597G>A	ENST00000261402.2	-	6	2166	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTGATTTGCCGAATGAGGTTT	0.562																																																	0													136	119	125					12																	106464597		2203	4300	6503	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.787C>T	12.37:g.106464597G>A	ENSP00000261402:p.Arg263Trp		A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R263W	ENST00000261402.2	37	c.787	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488969	0.64074	.	.	ENSG00000074590	ENST00000261402;ENST00000549704;ENST00000548902	T;T;T	0.67523	-0.27;1.02;-0.27	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.132265	0.33272	N	0.005094	T	0.81399	0.4814	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83956	0.0319	10	0.87932	D	0	.	11.544	0.50681	0.0:0.0:0.6902:0.3097	.	263	O60285	NUAK1_HUMAN	W	263;13;132	ENSP00000261402:R263W;ENSP00000449990:R13W;ENSP00000448288:R132W	ENSP00000261402:R263W	R	-	1	2	NUAK1	104988727	1.000000	0.71417	0.996000	0.52242	0.598000	0.36846	5.057000	0.64294	2.275000	0.75901	0.563000	0.77884	CGG	NUAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000074590		0.562	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	-	0	41	0	G	NM_014840		106464597	-1	tier1	-	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	A	A	106464597	G	A	106464597	3	1	59	1	0	0	0	0	1	0	0	0	10751	1057	37	1	1206	1	NUAK1	12	106464597	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	952363	106464597	27387298	296	17004											
PTPN11	5781	genome.wustl.edu	37	chr12	112924316	112924316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggcaataccactttcGgacctggccggaccacggcg	7	7	13	14	4	1	0	0	0	1	0	2	2	1	2	4	6	1	1	4	6	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:112924316G>T	ENST00000351677.2	+	11	1460	c.1262G>T	c.(1261-1263)cGg>cTg	p.R421L	PTPN11_ENST00000392597.1_Missense_Mutation_p.R421L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	425	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TACCACTTTCGGACCTGGCCG	0.557			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0													52	51	51					12																	112924316		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1262G>T	12.37:g.112924316G>T	ENSP00000340944:p.Arg421Leu		A8K1D9|Q96HD7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.R421L	ENST00000351677.2	37	c.1262	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	G	6.843	0.524864	0.13066	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99121	-5.45;-5.45	5.18	4.26	0.50523	.	0.055988	0.64402	D	0.000003	D	0.89622	0.6768	N	0.00221	-1.82	0.53005	D	0.999961	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.86937	0.2077	10	0.02654	T	1	.	8.4001	0.32581	0.0776:0.0:0.7671:0.1553	.	421;421	Q06124-2;Q06124-3	.;.	L	421	ENSP00000376376:R421L;ENSP00000340944:R421L	ENSP00000340944:R421L	R	+	2	0	PTPN11	111408699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.757000	0.55212	1.108000	0.41662	0.563000	0.77884	CGG	PTPN11	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000179295		0.557	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	HGNC	protein_coding	OTTHUMT00000259496.2		0	21	0	G			112924316	1			no_errors	ENST00000351677	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	112924316	G	T	112924316	3	4	59	1	0	0	0	0	1	0	0	0	12823	1116	39	2	1304	2	PTPN11	12	112924316	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6459719	112924316	20927579	297	17005											
RPH3A	22895	genome.wustl.edu	37	chr12	113266162	113266162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaacagttctaaccgttgGatgtaccccagtgaccggcc	10	8	10	13	2	1	1	0	1	1	0	1	2	1	2	5	2	4	4	5	2	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:113266162G>T	ENST00000389385.4	+	3	536	c.39G>T	c.(37-39)tgG>tgT	p.W13C	RPH3A_ENST00000447659.2_Missense_Mutation_p.W13C|RPH3A_ENST00000543106.2_Missense_Mutation_p.W13C|RPH3A_ENST00000548866.1_Missense_Mutation_p.W13C|RPH3A_ENST00000551052.1_Missense_Mutation_p.W13C|RPH3A_ENST00000415485.3_Missense_Mutation_p.W13C|RPH3A_ENST00000420983.2_Missense_Mutation_p.W13C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	13					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CTAACCGTTGGATGTACCCCA	0.473																																																	0													187	161	170					12																	113266162		2203	4300	6503	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.39G>T	12.37:g.113266162G>T	ENSP00000374036:p.Trp13Cys		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.W13C	ENST00000389385.4	37	c.39	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930417	0.52866	.	.	ENSG00000089169	ENST00000549736;ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000447659;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000548866;ENST00000420983	T;T;D;T;T;T;T	0.81908	-0.97;-0.97;-1.55;-0.98;-0.97;-0.39;-0.97	5.7	5.7	0.88788	Rabphilin-3A effector, zinc-binding (1);	0.000000	0.50627	D	0.000120	D	0.90885	0.7136	M	0.77486	2.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.998;0.997	D	0.91576	0.5275	10	0.87932	D	0	.	15.3248	0.74150	0.0:0.0:1.0:0.0	.	13;13;13;13	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	C	13	ENSP00000440384:W13C;ENSP00000374036:W13C;ENSP00000413254:W13C;ENSP00000448297:W13C;ENSP00000405357:W13C;ENSP00000450347:W13C;ENSP00000408889:W13C	ENSP00000374036:W13C	W	+	3	0	RPH3A	111750545	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.419000	0.59835	2.696000	0.92011	0.655000	0.94253	TGG	RPH3A	-	pfam_Znf_FYVE-typ	ENSG00000089169		0.473	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	-	0	47	0	G	NM_014954		113266162	1	tier1	-	no_errors	ENST00000389385	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	113266162	G	T	113266162	3	4	59	1	0	0	0	0	1	0	0	0	13596	1183	41	3	41	3	RPH3A	12	113266162	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	341846	113266162	20585733	298	17006											
SRRM4	84530	genome.wustl.edu	37	chr12	119594330	119594330	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgccccatcccctactatcgGcccagcccctcctcatccgg	5	7	6	23	3	1	0	1	0	0	0	5	0	4	0	9	2	2	0	9	2	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:119594330G>T	ENST00000267260.4	+	13	1951	c.1563G>T	c.(1561-1563)cgG>cgT	p.R521R		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	521	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTACTATCGGCCCAGCCCCT	0.692																																																	0													19	24	23					12																	119594330		2020	4169	6189	SO:0001819	synonymous_variant	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"neural-specific SR-related protein of 100 kDa"	613103	"KIAA1853"	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1563G>T	12.37:g.119594330G>T			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.R521	ENST00000267260.4	37	c.1563	CCDS44994.1	12																																																																																			SRRM4	-	NULL	ENSG00000139767		0.692	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	-	0	26	0	G	NM_194286		119594330	1	tier1	-	no_errors	ENST00000267260	ensembl	human	known	74_37	silent	46.88	16	15	SNP	1.000	T	T	119594330	G	T	119594330	2	4	59	1	0	0	0	0	0	0	0	1	15218	1190	42	3		3	SRRM4	12	119594330	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6328168	119594330	14257565	299	17007											
PITPNM2	57605	genome.wustl.edu	37	chr12	123497206	123497206	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaggttgaacacgtcGgggttttctccagcatcagt	9	10	14	8	2	2	2	1	1	1	1	4	4	2	3	1	4	2	3	1	4	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:123497206G>A	ENST00000542749.1	-	3	432	c.369C>T	c.(367-369)ccC>ccT	p.P123P	PITPNM2_ENST00000280562.5_Silent_p.P123P|MIR4304_ENST00000580964.1_RNA|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Silent_p.P123P|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.P123P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	123					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGAACACGTCGGGGTTTTCTC	0.498																																																	0													169	180	176					12																	123497206		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.369C>T	12.37:g.123497206G>A			Q9P271	Silent	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.P123	ENST00000542749.1	37	c.369	CCDS9242.1	12																																																																																			PITPNM2	-	pfam_PI_transfer,prints_PI_transfer	ENSG00000090975		0.498	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0	54	0	G	NM_020845		123497206	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	silent	43.59	44	34	SNP	0.000	A	A	123497206	G	A	123497206	2	1	59	1	0	0	0	0	0	0	0	1	11990	1103	39	1		1	PITPNM2	12	123497206	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3902876	123497206	10354689	300	17008											
CDK2AP1	8099	genome.wustl.edu	37	chr12	123746286	123746286	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccaacaaggcagctaGgatctggcattccgttccgt	12	8	9	12	2	1	0	0	0	1	0	3	1	3	1	3	3	3	4	3	3	5	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:123746286G>T	ENST00000261692.2	-	4	866	c.345C>A	c.(343-345)tcC>tcA	p.S115S	CDK2AP1_ENST00000544658.1_Silent_p.S87S|RP11-282O18.3_ENST00000543217.2_RNA|CDK2AP1_ENST00000535979.1_Silent_p.S87S|CDK2AP1_ENST00000542174.1_Silent_p.S87S|RP11-282O18.3_ENST00000541002.3_RNA|RP11-282O18.3_ENST00000542427.2_RNA|CDK2AP1_ENST00000538446.1_Silent_p.S87S|RP11-282O18.3_ENST00000544890.1_RNA|RP11-282O18.7_ENST00000602352.1_RNA	NM_001270433.1|NM_001270434.1|NM_004642.3	NP_001257362.1|NP_001257363.1|NP_004633.1	O14519	CDKA1_HUMAN	cyclin-dependent kinase 2 associated protein 1	115					cell cycle (GO:0007049)|DNA-dependent DNA replication (GO:0006261)|positive regulation of protein phosphorylation (GO:0001934)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA polymerase binding (GO:0070182)			lung(2)|stomach(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000554)|Epithelial(86;0.00178)		AAGGCAGCTAGGATCTGGCAT	0.468																																																	0													155	139	145					12																	123746286		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006077	CCDS9245.1, CCDS58289.1	12q24	2008-11-04	2008-11-04		ENSG00000111328	ENSG00000111328			14002	protein-coding gene	gene with protein product		602198	"CDK2-associated protein 1"			9331572, 9506968	Standard	NM_004642		Approved	DORC1, doc-1, DOC1, ST19, p12DOC-1	uc001ueq.4	O14519	OTTHUMG00000168854	ENST00000261692.2:c.345C>A	12.37:g.123746286G>T			F5GYA4	Silent	SNP	pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2	p.S115	ENST00000261692.2	37	c.345	CCDS9245.1	12																																																																																			CDK2AP1	-	pirsf_CDK2-associated_2	ENSG00000111328		0.468	CDK2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2AP1	HGNC	protein_coding	OTTHUMT00000401387.1	-	0	18	0	G	NM_004642		123746286	-1	tier1	-	no_errors	ENST00000261692	ensembl	human	known	74_37	silent	22.22	14	4	SNP	1.000	T	T	123746286	G	T	123746286	2	4	59	1	0	0	0	0	0	0	0	1	3145	987	35	3		3	CDK2AP1	12	123746286	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	249080	123746286	10105609	301	17009											
SBNO1	55206	genome.wustl.edu	37	chr12	123829962	123829962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttggtgctgagactgacggGcgtgtgcttgcagtagtctg	5	12	17	7	2	1	2	0	2	1	1	1	3	1	2	0	2	3	5	0	2	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:123829962G>A	ENST00000602398.1	-	4	520	c.393C>T	c.(391-393)cgC>cgT	p.R131R	SBNO1_ENST00000267176.4_Silent_p.R130R|SBNO1_ENST00000602750.1_Silent_p.R130R|SBNO1_ENST00000420886.2_Silent_p.R131R			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	131					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGACTGACGGGCGTGTGCTTG	0.413																																																	0													285	241	256					12																	123829962		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.393C>T	12.37:g.123829962G>A			Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Silent	SNP	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.R131	ENST00000602398.1	37	c.393	CCDS53844.1	12																																																																																			SBNO1	-	NULL	ENSG00000139697		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	-	0	104	0	G	NM_018183		123829962	-1	tier1	-	no_errors	ENST00000420886	ensembl	human	known	74_37	silent	39.22	62	40	SNP	0.893	A	A	123829962	G	A	123829962	2	1	59	1	0	0	0	0	0	0	0	1	13907	1190	42	3		3	SBNO1	12	123829962	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	83676	123829962	10021933	302	17010											
DNAH10	196385	genome.wustl.edu	37	chr12	124298415	124298415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatggaactcagatataggGacgtccaggagcgataccgt	12	8	12	9	3	2	1	2	0	0	1	3	5	3	4	2	3	3	0	2	3	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:124298415G>T	ENST00000409039.3	+	20	3407	c.3382G>T	c.(3382-3384)Gac>Tac	p.D1128Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1128	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATATAGGGACGTCCAGGA	0.393																																																	0													77	74	75					12																	124298415		1979	4187	6166	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3382G>T	12.37:g.124298415G>T	ENSP00000386770:p.Asp1128Tyr		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.D1128Y	ENST00000409039.3	37	c.3382	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945009	0.73672	.	.	ENSG00000197653	ENST00000409039	T	0.22539	1.95	5.72	5.72	0.89469	.	.	.	.	.	T	0.50411	0.1614	M	0.83483	2.645	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.54214	-0.8327	9	0.72032	D	0.01	.	19.8751	0.96867	0.0:0.0:1.0:0.0	.	1128	Q8IVF4	DYH10_HUMAN	Y	1128	ENSP00000386770:D1128Y	ENSP00000386770:D1128Y	D	+	1	0	DNAH10	122864368	1.000000	0.71417	0.980000	0.43619	0.320000	0.28249	9.609000	0.98334	2.695000	0.91970	0.655000	0.94253	GAC	DNAH10	-	NULL	ENSG00000197653		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	45	0	G			124298415	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	T	T	124298415	G	T	124298415	3	4	59	1	0	0	0	0	1	0	0	0	4612	1174	41	3	3460	3	DNAH10	12	124298415	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	468453	124298415	9553480	303	17011											
DNAH10	196385	genome.wustl.edu	37	chr12	124330608	124330608	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacatccgccagtgcacGggaacctttggctacggcta	9	8	11	13	3	0	1	0	1	0	0	1	2	1	2	3	3	4	3	3	3	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:124330608G>T	ENST00000409039.3	+	31	5392	c.5367G>T	c.(5365-5367)acG>acT	p.T1789T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1789	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1789T(1)|p.T381T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCAGTGCACGGGAACCTTTG	0.592																																																	2	Substitution - coding silent(2)	large_intestine(2)											75	80	78					12																	124330608		1993	4159	6152	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5367G>T	12.37:g.124330608G>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.T1789	ENST00000409039.3	37	c.5367	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.592	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0	35	0	G			124330608	1			no_errors	ENST00000409039	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.077	T	T	124330608	G	T	124330608	2	4	59	1	0	0	0	0	0	0	0	1	4612	1103	39	2		2	DNAH10	12	124330608	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	32193	124330608	9521287	304	17012											
PIWIL1	9271	genome.wustl.edu	37	chr12	130855864	130855864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccacatctattacaactGgccagtaagtgcttctactt	10	13	7	11	0	2	0	0	0	2	0	2	0	2	0	2	1	5	2	2	1	5	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr12:130855864G>T	ENST00000245255.3	+	20	2737	c.2465G>T	c.(2464-2466)tGg>tTg	p.W822L	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	822	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TATTACAACTGGCCAGTAAGT	0.408																																																	0													169	145	153					12																	130855864		2203	4300	6503	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2465G>T	12.37:g.130855864G>T	ENSP00000245255:p.Trp822Leu		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.W822L	ENST00000245255.3	37	c.2465	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935448	0.52866	.	.	ENSG00000125207	ENST00000245255	T	0.13538	2.58	5.45	5.45	0.79879	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.057384	0.85682	D	0.000000	T	0.36663	0.0975	M	0.62266	1.93	0.80722	D	1	B;D	0.89917	0.046;1.0	B;D	0.97110	0.049;1.0	T	0.01858	-1.1259	10	0.45353	T	0.12	-19.4412	18.2559	0.90020	0.0:0.0:1.0:0.0	.	822;822	Q96J94;Q96J94-2	PIWL1_HUMAN;.	L	822	ENSP00000245255:W822L	ENSP00000245255:W822L	W	+	2	0	PIWIL1	129421817	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	9.741000	0.98843	2.542000	0.85734	0.561000	0.74099	TGG	PIWIL1	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000125207		0.408	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1		0	29	0	G			130855864	1			no_errors	ENST00000245255	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	130855864	G	T	130855864	3	4	59	1	0	0	0	0	1	0	0	0	11996	1357	47	3	2539	3	PIWIL1	12	130855864	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6525256	130855864	2996031	305	17013											
MTMR6	9107	genome.wustl.edu	37	chr13	25831386	25831386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaataaaagagaacccaggGaacaaacctgggaagtccta	18	4	9	10	0	0	1	0	0	0	1	1	4	1	3	4	2	3	0	4	2	8	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr13:25831386G>T	ENST00000381801.5	-	9	1804	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y	MTMR6_ENST00000482345.1_5'Flank|MTMR6_ENST00000540661.1_Missense_Mutation_p.S348Y	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	348	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AGAACCCAGGGAACAAACCTG	0.383																																																	0													103	93	96					13																	25831386		2203	4300	6503	SO:0001583	missense	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1043C>A	13.37:g.25831386G>T	ENSP00000371221:p.Ser348Tyr		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.S348Y	ENST00000381801.5	37	c.1043	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752669	0.89753	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.96200	-3.94;-3.94	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	0.050500	0.85682	D	0.000000	D	0.98713	0.9568	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	D	0.99544	1.0964	10	0.87932	D	0	.	19.3809	0.94532	0.0:0.0:1.0:0.0	.	348;348	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	Y	348	ENSP00000443161:S348Y;ENSP00000371221:S348Y	ENSP00000371221:S348Y	S	-	2	0	MTMR6	24729386	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.807000	0.99171	2.573000	0.86826	0.650000	0.86243	TCC	MTMR6	-	smart_Tyr_Pase_cat	ENSG00000139505		0.383	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1		0	21	0	G	NM_004685		25831386	-1			no_errors	ENST00000381801	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	25831386	G	T	25831386	3	4	59	1	0	0	0	0	1	0	0	0	9985	1174	41	3	846	3	MTMR6	13	25831386	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		25831386	89338492	306	17014											
DCLK1	9201	genome.wustl.edu	37	chr13	36382456	36382456	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctcctggtcatcaccacTtctgtttaggtgaacgacaa	10	11	7	13	1	3	1	2	1	1	0	4	2	4	1	3	2	1	1	3	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr13:36382456T>G	ENST00000360631.3	-	14	1979	c.1768A>C	c.(1768-1770)Agt>Cgt	p.S590R	DCLK1_ENST00000255448.4_Splice_Site_p.S590R|DCLK1_ENST00000379893.1_Splice_Site_p.S283R			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCATCACCACTTCTGTTTAGG	0.453																																																	0													179	169	172					13																	36382456		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1767-1A>C	13.37:g.36382456T>G			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.S590R	ENST00000360631.3	37	c.1768		13	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019379	0.54576	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.65364	-0.15;-0.15;-0.15	5.51	4.33	0.51752	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.040051	0.85682	D	0.000000	T	0.55673	0.1935	L	0.28556	0.865	0.80722	D	1	B;P;P;B	0.41188	0.142;0.741;0.696;0.142	B;P;B;B	0.45712	0.092;0.491;0.358;0.092	T	0.56836	-0.7913	10	0.56958	D	0.05	.	11.1706	0.48569	0.0:0.072:0.0:0.928	.	283;590;590;283	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	R	282;590;590;283;572	ENSP00000255448:S590R;ENSP00000353846:S590R;ENSP00000369223:S283R	ENSP00000255448:S590R	S	-	1	0	DCLK1	35280456	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.161000	0.58170	0.934000	0.37316	0.460000	0.39030	AGT	DCLK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000133083		0.453	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0	17	0	T	NM_004734	Missense_Mutation	36382456	-1	tier1	-	no_errors	ENST00000360631	ensembl	human	known	74_37	missense	66.67	6	12	SNP	1.000	G	G	36382456	T	G	36382456	5	3	59	1	0	0	0	0	0	0	1	0	4300	1623	56	4	441	4	DCLK1	13	36382456	Splice_Site	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	10551070	36382456	78787422	307	17015											
KIAA0564	23078	genome.wustl.edu	37	chr13	42461412	42461412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggattcccagaataccttGgcactggcaagcccaaggca	12	7	10	12	0	0	1	0	0	0	1	1	2	1	2	3	4	2	3	3	4	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr13:42461412G>T	ENST00000379310.3	-	6	805	c.737C>A	c.(736-738)cCa>cAa	p.P246Q	VWA8_ENST00000281496.6_Missense_Mutation_p.P246Q	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	246						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AGAATACCTTGGCACTGGCAA	0.403																																																	0													67	71	70					13																	42461412		2203	4300	6503	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"KIAA0564"	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.737C>A	13.37:g.42461412G>T	ENSP00000368612:p.Pro246Gln		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.P246Q	ENST00000379310.3	37	c.737	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682382	0.88542	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.56275	0.47;0.47	5.11	5.11	0.69529	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	T	0.71702	0.3371	M	0.71581	2.175	0.80722	D	1	D	0.55605	0.972	D	0.64687	0.928	T	0.74765	-0.3554	10	0.72032	D	0.01	.	18.9359	0.92584	0.0:0.0:1.0:0.0	.	246	A3KMH1	K0564_HUMAN	Q	150;246;246;246	ENSP00000368612:P246Q;ENSP00000281496:P246Q	ENSP00000251030:P150Q	P	-	2	0	KIAA0564	41359412	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	9.740000	0.98839	2.538000	0.85594	0.650000	0.86243	CCA	VWA8	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	ENSG00000102763		0.403	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	-	0	23	0	G	NM_015058		42461412	-1	tier1	-	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	42461412	G	T	42461412	3	4	59	1	0	0	0	0	1	0	0	0	8212	1348	47	3	5144	3	KIAA0564	13	42461412	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6078956	42461412	72708466	308	17016											
INTS6	26512	genome.wustl.edu	37	chr13	51963521	51963521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccccactttgtactttctGcaccaaggactccagacact	10	10	5	16	0	1	1	0	0	1	1	2	2	2	2	4	1	2	2	4	1	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr13:51963521G>T	ENST00000311234.4	-	6	1145	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	INTS6_ENST00000463928.1_Missense_Mutation_p.Q225K|INTS6_ENST00000398119.2_Missense_Mutation_p.Q212K|INTS6_ENST00000497989.1_Missense_Mutation_p.Q47K|INTS6_ENST00000420668.2_Nonsense_Mutation_p.C163*|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	225	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TGTACTTTCTGCACCAAGGAC	0.373																																																	0													157	156	157					13																	51963521		2203	4300	6503	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"DEAD-boxes"	14879	protein-coding gene	gene with protein product		604331	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.673C>A	13.37:g.51963521G>T	ENSP00000310260:p.Gln225Lys		Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Nonsense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.C163*	ENST00000311234.4	37	c.489	CCDS9428.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.277000|5.277000	0.95459|0.95459	.|.	.|.	ENSG00000102786|ENSG00000102786	ENST00000420668|ENST00000311234;ENST00000398119;ENST00000497989	.|.	.|.	.|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|von Willebrand factor, type A (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.82779	.|0.5111	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D	.|0.63880	.|0.993	.|D	.|0.64506	.|0.926	.|T	.|0.83111	.|-0.0123	.|9	0.46703|0.41790	T|T	0.11|0.15	-8.0824|-8.0824	18.3667|18.3667	0.90392|0.90392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|225	.|Q9UL03	.|INT6_HUMAN	X|K	163|225;212;47	.|.	ENSP00000388585:C163X|ENSP00000310260:Q225K	C|Q	-|-	3|1	2|0	INTS6|INTS6	50861522|50861522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.779000|9.779000	0.99018|0.99018	2.652000|2.652000	0.90054|0.90054	0.563000|0.563000	0.77884|0.77884	TGC|CAG	INTS6	-	NULL	ENSG00000102786		0.373	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	-	0	36	0	G	NM_012141		51963521	-1	tier1	-	no_errors	ENST00000420668	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	T	T	51963521	G	T	51963521	3	4	59	1	0	0	0	0	1	0	0	0	7809	1328	46	3	2042	3	INTS6	13	51963521	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	9502109	51963521	63206357	309	17017											
MYCBP2	23077	genome.wustl.edu	37	chr13	77807343	77807343	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggatgggatctgagtctGgctagagcctgttctcgatg	6	12	15	8	1	3	2	0	1	3	1	4	5	3	4	1	3	1	3	1	3	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr13:77807343G>T	ENST00000544440.2	-	18	2588	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	MYCBP2_ENST00000407578.2_Silent_p.A895A|MYCBP2_ENST00000357337.6_Silent_p.A857A|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCTGAGTCTGGCTAGAGCCT	0.428																																																	0													193	190	191					13																	77807343		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2571C>A	13.37:g.77807343G>T				Silent	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A895	ENST00000544440.2	37	c.2685		13																																																																																			MYCBP2	-	superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold	ENSG00000005810		0.428	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	43	0	G	NM_015057		77807343	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	silent	14.29	18	3	SNP	1.000	T	T	77807343	G	T	77807343	2	4	59	1	0	0	0	0	0	0	0	1	10056	1335	47	3		3	MYCBP2	13	77807343	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	25843822	77807343	37362535	310	17018											
TPP2	7174	genome.wustl.edu	37	chr13	103268839	103268839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttgatgttgccaacaacGgctcttctcaagttggtgct	9	14	9	9	1	2	1	1	1	2	0	3	1	2	1	1	2	4	4	1	2	4	4	rs202026163		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr13:103268839G>T	ENST00000376065.4	+	4	520	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C	TPP2_ENST00000376052.3_Missense_Mutation_p.G162C	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	162	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)	p.G162S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCCAACAACGGCTCTTCTCA	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											87	92	90					13																	103268839		2203	4300	6503	SO:0001583	missense	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.484G>T	13.37:g.103268839G>T	ENSP00000365233:p.Gly162Cys		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.G162C	ENST00000376065.4	37	c.484	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307716	0.40795	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.55	2.91	0.33838	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.356145	0.32459	N	0.006067	T	0.48624	0.1510	L	0.55481	1.735	0.28682	N	0.905058	B	0.32753	0.383	P	0.44696	0.458	T	0.49234	-0.8961	9	0.52906	T	0.07	.	6.7401	0.23431	0.1165:0.0:0.3537:0.5298	.	162	P29144	TPP2_HUMAN	C	162	.	ENSP00000365220:G162C	G	+	1	0	TPP2	102066840	0.996000	0.38824	0.304000	0.25085	0.959000	0.62525	3.295000	0.51794	0.633000	0.30452	0.585000	0.79938	GGC	TPP2	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000134900		0.413	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2		0	28	0	G			103268839	1			no_errors	ENST00000376065	ensembl	human	known	74_37	missense	10.00	17	2	SNP	0.224	T	T	103268839	G	T	103268839	3	4	59	1	0	0	0	0	1	0	0	0	16460	1116	39	2	498	2	TPP2	13	103268839	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	25461496	103268839	11901039	311	17019											
ZNF828	283489	genome.wustl.edu	37	chr13	115089492	115089492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatattttaccagaaaagtGcaaagttatttcactgccat	14	14	6	7	0	1	2	1	1	0	1	1	2	1	2	2	0	3	2	2	0	6	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr13:115089492G>T	ENST00000361283.1	+	3	484	c.175G>T	c.(175-177)Gca>Tca	p.A59S		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	59					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A59>?(1)									CCAGAAAAGTGCAAAGTTATT	0.378																																																	1	Complex(1)	large_intestine(1)											100	93	96					13																	115089492		2203	4300	6503	SO:0001583	missense	0			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.175G>T	13.37:g.115089492G>T	ENSP00000354730:p.Ala59Ser		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A59S	ENST00000361283.1	37	c.175	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976648	0.92982	.	.	ENSG00000198824	ENST00000361283	T	0.02890	4.12	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000028	T	0.10766	0.0263	L	0.36672	1.1	0.45427	D	0.998409	D	0.89917	1.0	D	0.87578	0.998	T	0.18871	-1.0323	9	.	.	.	-14.0419	20.3928	0.98949	0.0:0.0:1.0:0.0	.	59	Q96JM3	ZN828_HUMAN	S	59	ENSP00000354730:A59S	.	A	+	1	0	ZNF828	114107594	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.134000	0.71689	2.813000	0.96785	0.655000	0.94253	GCA	CHAMP1	-	NULL	ENSG00000198824		0.378	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2		0	16	0	G	NM_032436		115089492	1			no_errors	ENST00000361283	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	115089492	G	T	115089492	3	4	59	1	0	0	0	0	1	0	0	0	18229	1319	46	3	177	3	ZNF828	13	115089492	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	11820653	115089492	80386	312	17020											
FLJ10357	55701	genome.wustl.edu	37	chr14	21550545	21550545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccctgagtgcccgggaaAggcttcgcagcttccaccgg	6	7	13	15	3	0	1	0	1	0	0	2	2	1	2	4	3	3	3	4	3	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:21550545A>G	ENST00000298694.4	+	15	3521	c.3394A>G	c.(3394-3396)Agg>Ggg	p.R1132G	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R1132G			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1132	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGCCCGGGAAAGGCTTCGCAG	0.652																																																	0													32	35	34					14																	21550545		2203	4300	6503	SO:0001583	missense	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3394A>G	14.37:g.21550545A>G	ENSP00000298694:p.Arg1132Gly		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R1132G	ENST00000298694.4	37	c.3394	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962863	0.74016	.	.	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.29917	1.55;1.55	5.91	4.81	0.61882	Dbl homology (DH) domain (4);	0.353262	0.23646	N	0.045963	T	0.46268	0.1384	L	0.53249	1.67	0.30585	N	0.762127	D;D;P	0.56746	0.971;0.977;0.493	P;D;B	0.66602	0.908;0.945;0.109	T	0.50206	-0.8855	10	0.72032	D	0.01	.	9.9089	0.41392	0.6975:0.3025:0.0:0.0	.	1132;1132;418	Q8TER5-4;Q8TER5;Q8TER5-2	.;ARH40_HUMAN;.	G	1132	ENSP00000298694:R1132G;ENSP00000298693:R1132G	ENSP00000298693:R1132G	R	+	1	2	ARHGEF40	20620385	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	4.178000	0.58284	2.266000	0.75297	0.533000	0.62120	AGG	ARHGEF40	-	pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain	ENSG00000165801		0.652	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	-	0	11	0	A			21550545	1	tier1	-	no_errors	ENST00000298694	ensembl	human	known	74_37	missense	52.94	8	9	SNP	1.000	G	G	21550545	A	G	21550545	3	3	59	1	0	0	0	0	1	0	0	0	5948	63	3	4	3452	4	FLJ10357	14	21550545	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09		21550545	85798995	313	17021											
MIPOL1	145282	genome.wustl.edu	37	chr14	37754580	37754580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgaagctgttatgtctaGactgcaattagccattgagg	11	13	11	6	0	1	4	0	3	1	1	1	4	1	4	1	1	3	3	1	1	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:37754580G>C	ENST00000327441.7	+	8	1017	c.551G>C	c.(550-552)aGa>aCa	p.R184T	MIPOL1_ENST00000539062.2_Missense_Mutation_p.R153T|MIPOL1_ENST00000545536.1_Missense_Mutation_p.R153T|MIPOL1_ENST00000556451.1_Missense_Mutation_p.R153T|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R3T|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R184T|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R184T	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	184						nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GTTATGTCTAGACTGCAATTA	0.368																																																	0													215	199	205					14																	37754580		2203	4300	6503	SO:0001583	missense	0			AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.551G>C	14.37:g.37754580G>C	ENSP00000333539:p.Arg184Thr		D3DSA4|Q7Z3J0|Q8IV14	Missense_Mutation	SNP	NULL	p.R184T	ENST00000327441.7	37	c.551	CCDS9664.1	14	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565901	0.86439	.	.	ENSG00000151338	ENST00000327441;ENST00000536774;ENST00000539062;ENST00000556451;ENST00000396294;ENST00000537471;ENST00000545536	T;T;T;T;T;T	0.64260	-0.05;-0.04;-0.09;-0.05;-0.05;-0.09	5.4	5.4	0.78164	.	0.051511	0.64402	D	0.000001	T	0.80253	0.4589	M	0.76574	2.34	0.42198	D	0.991751	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.82504	-0.0424	10	0.87932	D	0	-9.8459	19.1734	0.93590	0.0:0.0:1.0:0.0	.	184;153	Q8TD10;Q49AL5	MIPO1_HUMAN;.	T	184;3;153;153;184;184;153	ENSP00000333539:R184T;ENSP00000438319:R153T;ENSP00000450479:R153T;ENSP00000379589:R184T;ENSP00000444254:R184T;ENSP00000442529:R153T	ENSP00000333539:R184T	R	+	2	0	MIPOL1	36824331	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.679000	0.84048	2.539000	0.85634	0.561000	0.74099	AGA	MIPOL1	-	NULL	ENSG00000151338		0.368	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPOL1	HGNC	protein_coding	OTTHUMT00000276734.1	-	0	52	0	G	NM_138731		37754580	1	tier1	-	no_errors	ENST00000327441	ensembl	human	known	74_37	missense	39.71	41	27	SNP	1.000	C	C	37754580	G	C	37754580	3	2	59	1	0	0	0	0	1	0	0	0	9631	942	33	5	569	5	MIPOL1	14	37754580	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	16204035	37754580	69594960	314	17022											
FAM179B	23116	genome.wustl.edu	37	chr14	45542540	45542540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaggaagccgcatgccacaGagcagaaagtgttggttgtt	13	8	13	7	1	0	2	0	0	0	2	0	3	0	3	2	2	3	5	2	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:45542540G>C	ENST00000361577.3	+	19	5153	c.4939G>C	c.(4939-4941)Gag>Cag	p.E1647Q	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.E1700Q	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1647										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCATGCCACAGAGCAGAAAGT	0.388																																																	0													98	102	101					14																	45542540		2203	4300	6503	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.4939G>C	14.37:g.45542540G>C	ENSP00000355045:p.Glu1647Gln		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1647Q	ENST00000361577.3	37	c.4939	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188834	0.78789	.	.	ENSG00000198718	ENST00000361577;ENST00000361462;ENST00000556823	T;T;T	0.17854	2.25;2.25;2.25	5.42	5.42	0.78866	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	M	0.61703	1.905	0.80722	D	1	P;D	0.76494	0.821;0.999	P;D	0.79108	0.758;0.992	T	0.03739	-1.1008	10	0.40728	T	0.16	-18.8707	17.0072	0.86396	0.0:0.0:1.0:0.0	.	1700;1647	G3XAE9;Q9Y4F4	.;F179B_HUMAN	Q	1647;1700;82	ENSP00000355045:E1647Q;ENSP00000354917:E1700Q;ENSP00000450465:E82Q	ENSP00000354917:E1700Q	E	+	1	0	FAM179B	44612290	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.404000	0.90210	2.556000	0.86216	0.563000	0.77884	GAG	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.388	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	-	0	40	0	G	XM_113781		45542540	1	tier1	-	no_errors	ENST00000361577	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	C	C	45542540	G	C	45542540	3	2	59	1	0	0	0	0	1	0	0	0	5525	943	33	5	5013	5	FAM179B	14	45542540	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7787960	45542540	61807000	315	17023											
RPL10L	140801	genome.wustl.edu	37	chr14	47120896	47120896	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacgagattttgggtacggcTtgttcttacaataccggtaa	11	13	10	7	3	1	1	0	0	1	1	1	2	1	1	1	3	4	4	1	3	6	8			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:47120896T>C	ENST00000298283.3	-	1	132	c.44A>G	c.(43-45)aAg>aGg	p.K15R		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	15					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TGGGTACGGCTTGTTCTTACA	0.537																																																	0													85	90	89					14																	47120896		2203	4300	6503	SO:0001583	missense	0			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.44A>G	14.37:g.47120896T>C	ENSP00000298283:p.Lys15Arg		Q8IUD1	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.K15R	ENST00000298283.3	37	c.44	CCDS32071.1	14	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142896	0.77888	.	.	ENSG00000165496	ENST00000298283	T	0.74002	-0.8	4.08	4.08	0.47627	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	M	0.92077	3.27	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.90191	0.4250	10	0.87932	D	0	-23.4845	11.6729	0.51413	0.0:0.0:0.0:1.0	.	15	Q96L21	RL10L_HUMAN	R	15	ENSP00000298283:K15R	ENSP00000298283:K15R	K	-	2	0	RPL10L	46190646	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	7.239000	0.78182	2.080000	0.62538	0.533000	0.62120	AAG	RPL10L	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	ENSG00000165496		0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10L	HGNC	protein_coding	OTTHUMT00000349819.1	-	0	50	0	T			47120896	-1	tier1	-	no_errors	ENST00000298283	ensembl	human	known	74_37	missense	47.22	19	17	SNP	1.000	C	C	47120896	T	C	47120896	3	2	59	1	0	0	0	0	1	0	0	0	13601	1609	56	4	604	4	RPL10L	14	47120896	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	1578356	47120896	60228644	316	17024											
PYGL	5836	genome.wustl.edu	37	chr14	51390756	51390756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtgcacaggcagcatGaattctgggcgggacttctc	10	9	13	9	1	2	2	0	1	2	1	3	3	2	3	0	3	2	3	0	3	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:51390756G>T	ENST00000216392.7	-	5	923	c.591C>A	c.(589-591)ttC>ttA	p.F197L	PYGL_ENST00000544180.2_Missense_Mutation_p.F163L|PYGL_ENST00000532462.1_Missense_Mutation_p.F197L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	197					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CAGGCAGCATGAATTCTGGGC	0.448																																																	0													157	144	148					14																	51390756		2203	4300	6503	SO:0001583	missense	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.591C>A	14.37:g.51390756G>T	ENSP00000216392:p.Phe197Leu		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.F197L	ENST00000216392.7	37	c.591	CCDS32080.1	14	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468139	0.63625	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.92595	-3.0;-3.0;-3.07	6.17	6.17	0.99709	.	0.092608	0.85682	D	0.000000	D	0.85660	0.5748	N	0.25144	0.715	0.58432	D	0.999998	B;B;B	0.29270	0.133;0.009;0.24	B;B;B	0.28232	0.087;0.008;0.054	T	0.81488	-0.0910	10	0.27785	T	0.31	-14.1409	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	163;219;197	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	L	197;163;197	ENSP00000431657:F197L;ENSP00000443787:F163L;ENSP00000216392:F197L	ENSP00000216392:F197L	F	-	3	2	PYGL	50460506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.790000	0.75115	2.941000	0.99782	0.655000	0.94253	TTC	PYGL	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100504		0.448	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3		0	50	0	G	NM_002863		51390756	-1			no_errors	ENST00000216392	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	51390756	G	T	51390756	3	4	59	1	0	0	0	0	1	0	0	0	12906	1281	45	3	2016	3	PYGL	14	51390756	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4269860	51390756	55958784	317	17025											
PSMA3	5684	genome.wustl.edu	37	chr14	58737135	58737135	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcccttttctattctaGaatttacatagtacatgacg	10	17	4	10	1	2	2	0	1	2	1	3	2	3	2	2	0	2	1	2	0	6	10			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:58737135G>T	ENST00000216455.4	+	9	680		c.e9-1		RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|PSMA3_ENST00000412908.2_Splice_Site|PSMA3_ENST00000557508.1_Splice_Site|RP11-349A22.5_ENST00000554360.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|RP11-349A22.5_ENST00000556225.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						TTCTATTCTAGAATTTACATA	0.333																																																	0													119	120	119					14																	58737135		2203	4299	6502	SO:0001630	splice_region_variant	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.591-1G>T	14.37:g.58737135G>T			B2RCK6|Q86U83|Q8N1D8|Q9BS70	Splice_Site	SNP	-	e9-1	ENST00000216455.4	37	c.591-1	CCDS9731.1	14	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637148	0.67130	.	.	ENSG00000100567	ENST00000216455;ENST00000412908;ENST00000557508;ENST00000553677	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4404	0.90665	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMA3	57806888	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.320000	0.72876	2.762000	0.94881	0.591000	0.81541	.	PSMA3	-	-	ENSG00000100567		0.333	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1		0	67	0	G	NM_002788	Intron	58737135	1			no_errors	ENST00000216455	ensembl	human	known	74_37	splice_site	5.13	74	4	SNP	1.000	T	T	58737135	G	T	58737135	5	4	59	1	0	0	0	0	0	0	1	0	12710	956	33	3	624	3	PSMA3	14	58737135	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7346379	58737135	48612405	318	17026											
SYT16	83851	genome.wustl.edu	37	chr14	62550978	62550978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtacttcatccacgcagtCgctgtctcatggaggggcgc	7	10	12	12	3	2	0	2	0	1	0	5	1	3	1	1	3	1	3	1	3	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:62550978C>T	ENST00000430451.2	+	5	1696	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	500					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCCACGCAGTCGCTGTCTCAT	0.547																																																	0													106	104	105					14																	62550978		2000	4172	6172	SO:0001583	missense	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1499C>T	14.37:g.62550978C>T	ENSP00000394700:p.Ser500Leu		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S500L	ENST00000430451.2	37	c.1499	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720805	0.89205	.	.	ENSG00000139973	ENST00000430451	T	0.06142	3.34	5.44	4.56	0.56223	.	0.062074	0.64402	N	0.000002	T	0.25457	0.0619	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.02909	-1.1095	10	0.87932	D	0	-7.6599	14.256	0.66053	0.0:0.929:0.0:0.071	.	500	Q17RD7	SYT16_HUMAN	L	500	ENSP00000394700:S500L	ENSP00000394700:S500L	S	+	2	0	SYT16	61620731	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	5.607000	0.67648	1.526000	0.49068	0.643000	0.83706	TCG	SYT16	-	NULL	ENSG00000139973		0.547	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	-	0	25	0	C	NM_031914		62550978	1	tier1	-	no_errors	ENST00000430451	ensembl	human	novel	74_37	missense	38.71	18	12	SNP	1.000	T	T	62550978	C	T	62550978	3	4	59	1	0	0	0	0	1	0	0	0	15519	893	31	1	1517	1	SYT16	14	62550978	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	3813843	62550978	44798562	319	17027											
NUMB	8650	genome.wustl.edu	37	chr14	73759488	73759488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagatccagcgacgagtgGtgccatcacggcatatgtaa	12	7	12	10	3	1	1	1	0	0	1	2	4	2	1	2	2	2	2	2	2	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:73759488G>T	ENST00000355058.3	-	8	682	c.404C>A	c.(403-405)aCc>aAc	p.T135N	NUMB_ENST00000555394.1_Missense_Mutation_p.T135N|NUMB_ENST00000556772.1_5'UTR|NUMB_ENST00000554546.1_Missense_Mutation_p.T124N|NUMB_ENST00000356296.4_Missense_Mutation_p.T135N|NUMB_ENST00000560335.1_Missense_Mutation_p.T135N|NUMB_ENST00000555238.1_Missense_Mutation_p.T135N|NUMB_ENST00000554521.2_Missense_Mutation_p.T124N|NUMB_ENST00000454166.4_Missense_Mutation_p.T135N|NUMB_ENST00000359560.3_Missense_Mutation_p.T124N|NUMB_ENST00000559312.1_Missense_Mutation_p.T135N|NUMB_ENST00000535282.1_Missense_Mutation_p.T124N|NUMB_ENST00000557597.1_Missense_Mutation_p.T124N|NUMB_ENST00000544991.3_Missense_Mutation_p.T135N|NUMB_ENST00000555738.2_Missense_Mutation_p.T124N			P49757	NUMB_HUMAN	numb homolog (Drosophila)	135	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCGACGAGTGGTGCCATCACG	0.458																																																	0													100	95	97					14																	73759488		2203	4300	6503	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.404C>A	14.37:g.73759488G>T	ENSP00000347169:p.Thr135Asn		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.T135N	ENST00000355058.3	37	c.404	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.347385	0.95807	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13;2.13	5.5	5.5	0.81552	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.81341	2.54	0.80722	D	1	B;D;D;B;P;P;D;D;D;P;D	0.71674	0.117;0.98;0.973;0.115;0.904;0.84;0.973;0.996;0.998;0.784;0.987	B;D;D;P;P;P;D;D;D;D;D	0.85130	0.358;0.995;0.973;0.754;0.82;0.887;0.943;0.997;0.985;0.96;0.958	T	0.55121	-0.8190	10	0.87932	D	0	-16.6128	19.757	0.96298	0.0:0.0:1.0:0.0	.	124;135;124;135;135;124;124;124;135;124;135	B1P2N6;B1P2N5;B1P2N8;B1P2N7;G3V3R1;Q86SW5;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;.;.;NUMB_HUMAN	N	124;135;124;135;135;124;135;135;135;124;124;124;99;99;135;135	ENSP00000452416:T124N;ENSP00000348644:T135N;ENSP00000451117:T124N;ENSP00000451300:T135N;ENSP00000347169:T135N;ENSP00000352563:T124N;ENSP00000451625:T135N;ENSP00000446001:T135N;ENSP00000394025:T135N;ENSP00000452069:T124N;ENSP00000450817:T124N;ENSP00000441258:T124N;ENSP00000451326:T99N;ENSP00000452357:T135N;ENSP00000451374:T135N	ENSP00000315193:T99N	T	-	2	0	NUMB	72829241	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.813000	0.99286	2.758000	0.94735	0.561000	0.74099	ACC	NUMB	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	ENSG00000133961		0.458	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1	-	0	31	0	G			73759488	-1	tier1	-	no_errors	ENST00000355058	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	73759488	G	T	73759488	3	4	59	1	0	0	0	0	1	0	0	0	10790	1261	44	3	1575	3	NUMB	14	73759488	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	11208510	73759488	33590052	320	17028											
BTBD7	55727	genome.wustl.edu	37	chr14	93760733	93760733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacattttgaaaccttgaGtcctccattccaaactctcc	10	13	4	14	1	1	2	0	2	1	0	6	3	4	2	5	0	2	0	5	0	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:93760733G>T	ENST00000334746.5	-	3	940	c.633C>A	c.(631-633)gaC>gaA	p.D211E	BTBD7_ENST00000555525.1_Missense_Mutation_p.D211E|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.D211E|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	211	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAAACCTTGAGTCCTCCATTC	0.388																																																	0													66	63	64					14																	93760733		2203	4300	6503	SO:0001583	missense	0			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.633C>A	14.37:g.93760733G>T	ENSP00000335615:p.Asp211Glu		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.D211E	ENST00000334746.5	37	c.633	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971722	0.53614	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T;T;T	0.70399	-0.48;-0.48;-0.48	5.57	3.39	0.38822	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.61850	0.2380	L	0.39245	1.2	0.80722	D	1	B;P;B	0.35872	0.373;0.525;0.426	B;B;B	0.39503	0.099;0.188;0.301	T	0.62604	-0.6819	10	0.49607	T	0.09	.	9.2401	0.37491	0.295:0.0:0.705:0.0	.	211;211;211	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	E	211	ENSP00000335615:D211E;ENSP00000298896:D211E;ENSP00000451408:D211E	ENSP00000298896:D211E	D	-	3	2	BTBD7	92830486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.672000	0.25187	1.348000	0.45733	0.650000	0.86243	GAC	BTBD7	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000011114		0.388	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	-	0	31	0	G	NM_001002860		93760733	-1	tier1	-	no_errors	ENST00000334746	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T	T	93760733	G	T	93760733	3	4	59	1	0	0	0	0	1	0	0	0	1550	1020	36	3	2876	3	BTBD7	14	93760733	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	20001245	93760733	13588807	321	17029											
PPP4R4	57718	genome.wustl.edu	37	chr14	94708144	94708144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaattttcactccagatcaGcacttgagatttttggaatt	11	15	8	7	0	2	2	2	1	0	2	3	5	3	4	1	2	1	1	1	2	2	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:94708144G>T	ENST00000304338.3	+	10	1150	c.996G>T	c.(994-996)caG>caT	p.Q332H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	332					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CTCCAGATCAGCACTTGAGAT	0.299																																																	0													50	55	53					14																	94708144		2200	4296	6496	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.996G>T	14.37:g.94708144G>T	ENSP00000305924:p.Gln332His		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.Q332H	ENST00000304338.3	37	c.996	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842151	0.51057	.	.	ENSG00000119698	ENST00000304338	T	0.31769	1.48	4.95	-1.06	0.10002	Armadillo-like helical (1);Armadillo-type fold (1);	0.106384	0.64402	D	0.000003	T	0.47002	0.1422	M	0.72479	2.2	0.80722	D	1	D	0.67145	0.996	D	0.64877	0.93	T	0.49418	-0.8942	10	0.72032	D	0.01	-14.2777	11.4956	0.50406	0.3051:0.0:0.6949:0.0	.	332	Q6NUP7	PP4R4_HUMAN	H	332	ENSP00000305924:Q332H	ENSP00000305924:Q332H	Q	+	3	2	PPP4R4	93777897	0.981000	0.34729	0.998000	0.56505	0.985000	0.73830	-0.012000	0.12699	-0.122000	0.11766	-0.469000	0.05056	CAG	PPP4R4	-	superfamily_ARM-type_fold	ENSG00000119698		0.299	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	-	0	27	0	G	NM_058237		94708144	1	tier1	-	no_errors	ENST00000304338	ensembl	human	known	74_37	missense	36.00	16	9	SNP	1.000	T	T	94708144	G	T	94708144	3	4	59	1	0	0	0	0	1	0	0	0	12447	962	34	3	1107	3	PPP4R4	14	94708144	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	947411	94708144	12641396	322	17030											
SERPINA6	866	genome.wustl.edu	37	chr14	94776192	94776192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccattgcccacgtagttCatctgcaccagctggcaggg	7	9	11	14	1	2	0	1	0	1	0	3	0	3	0	3	2	3	5	3	2	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:94776192C>A	ENST00000341584.3	-	3	911	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	255					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCACGTAGTTCATCTGCACCA	0.542																																																	0													147	117	127					14																	94776192		2203	4300	6503	SO:0001583	missense	0			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"Serine (or cysteine) peptidase inhibitors"	1540	protein-coding gene	gene with protein product	"corticosteroid binding globulin", "transcortin"	122500	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.765G>T	14.37:g.94776192C>A	ENSP00000342850:p.Met255Ile		A8K456|Q7Z2Q9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.M255I	ENST00000341584.3	37	c.765	CCDS9924.1	14	.	.	.	.	.	.	.	.	.	.	C	10.81	1.455130	0.26161	.	.	ENSG00000170099	ENST00000341584	D	0.84370	-1.84	5.03	4.13	0.48395	Serpin domain (3);	0.401289	0.20792	N	0.085596	T	0.78629	0.4313	L	0.33624	1.015	0.31970	N	0.607332	B	0.17038	0.02	B	0.26416	0.069	T	0.78580	-0.2149	10	0.51188	T	0.08	.	10.8096	0.46538	0.1359:0.6011:0.263:0.0	.	255	P08185	CBG_HUMAN	I	255	ENSP00000342850:M255I	ENSP00000342850:M255I	M	-	3	0	SERPINA6	93845945	0.656000	0.27385	0.987000	0.45799	0.028000	0.11728	0.173000	0.16724	1.464000	0.47987	0.655000	0.94253	ATG	SERPINA6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000170099		0.542	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	HGNC	protein_coding	OTTHUMT00000413065.1	-	0	42	0	C	NM_001756		94776192	-1	tier1	-	no_errors	ENST00000341584	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	A	A	94776192	C	A	94776192	3	1	59	1	0	0	0	0	1	0	0	0	14138	826	29	3	464	3	SERPINA6	14	94776192	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	68048	94776192	12573348	323	17031											
CCNK	8812	genome.wustl.edu	37	chr14	99959174	99959174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggtaccgccgagagggcGctcggttcatctttgatgtg	5	10	14	12	5	2	2	1	1	1	1	3	3	2	2	3	3	1	3	3	3	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:99959174G>A	ENST00000389879.5	+	2	283	c.160G>A	c.(160-162)Gct>Act	p.A54T	CCNK_ENST00000555049.1_Missense_Mutation_p.A54T|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	54					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCGAGAGGGCGCTCGGTTCAT	0.517																																																	0													39	40	39					14																	99959174		1920	4117	6037	SO:0001583	missense	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.160G>A	14.37:g.99959174G>A	ENSP00000374529:p.Ala54Thr		Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A54T	ENST00000389879.5	37	c.160	CCDS45160.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.250149	0.95305	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049;ENST00000555842	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	6.06	6.06	0.98353	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.68317	2.08	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.66084	0.941;0.785	T	0.00225	-1.1901	10	0.56958	D	0.05	-16.6648	20.6397	0.99537	0.0:0.0:1.0:0.0	.	54;54	O75909;O75909-2	CCNK_HUMAN;.	T	54	ENSP00000374529:A54T;ENSP00000450792:A54T;ENSP00000452307:A54T;ENSP00000450440:A54T	ENSP00000216279:A54T	A	+	1	0	CCNK	99028927	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.675000	0.98638	2.880000	0.98712	0.650000	0.86243	GCT	CCNK	-	pfam_Cyclin_N,superfamily_Cyclin-like	ENSG00000090061		0.517	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	-	0	14	0	G			99959174	1	tier1	-	no_errors	ENST00000389879	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	A	A	99959174	G	A	99959174	3	1	59	1	0	0	0	0	1	0	0	0	2937	1087	38	1	162	1	CCNK	14	99959174	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5182982	99959174	7390366	324	17032											
CYP46A1	10858	genome.wustl.edu	37	chr14	100191745	100191745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttcagcacctatgtcatGgggcggatggacacatactt	10	10	11	10	1	2	0	2	0	0	0	2	2	2	2	1	4	2	2	1	4	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:100191745G>T	ENST00000261835.3	+	13	1298	c.1194G>T	c.(1192-1194)atG>atT	p.M398I	CYP46A1_ENST00000554176.1_Missense_Mutation_p.M235I|CYP46A1_ENST00000423126.2_Missense_Mutation_p.M301I	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	398					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CCTATGTCATGGGGCGGATGG	0.602																																																	0													116	100	105					14																	100191745		2203	4300	6503	SO:0001583	missense	0			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"Cytochrome P450s"	2641	protein-coding gene	gene with protein product		604087	"cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.1194G>T	14.37:g.100191745G>T	ENSP00000261835:p.Met398Ile		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.M398I	ENST00000261835.3	37	c.1194	CCDS9954.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.815496|3.815496	0.70912|0.70912	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126;ENST00000554176	.|T;T;T	.|0.66460	.|-0.21;-0.21;-0.21	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	.|0.345770	.|0.29021	.|N	.|0.013397	T|T	0.58163|0.58163	0.2103|0.2103	N|N	0.03268|0.03268	-0.37|-0.37	0.51482|0.51482	D|D	0.999925|0.999925	.|B;D	.|0.54964	.|0.365;0.969	.|B;D	.|0.63283	.|0.311;0.913	T|T	0.59825|0.59825	-0.7381|-0.7381	5|10	.|0.23891	.|T	.|0.37	.|.	13.0411|13.0411	0.58899|0.58899	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|235;398	.|Q8N2B0;Q9Y6A2	.|.;CP46A_HUMAN	W|I	385|398;301;235	.|ENSP00000261835:M398I;ENSP00000405779:M301I;ENSP00000450553:M235I	.|ENSP00000261835:M398I	G|M	+|+	1|3	0|0	CYP46A1|CYP46A1	99261498|99261498	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.656000|2.656000	0.46716|0.46716	2.218000|2.218000	0.71995|0.71995	0.563000|0.563000	0.77884|0.77884	GGG|ATG	CYP46A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000036530		0.602	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1	-	0	47	0	G			100191745	1	tier1	-	no_errors	ENST00000261835	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	100191745	G	T	100191745	3	4	59	1	0	0	0	0	1	0	0	0	4191	1348	47	3	1244	3	CYP46A1	14	100191745	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	232571	100191745	7157795	325	17033											
RTL1	388015	genome.wustl.edu	37	chr14	101350670	101350670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgctcggtctggttttgCtcttgaggagtctcctccct	3	15	12	11	1	3	1	0	1	3	0	6	3	4	2	2	3	2	3	2	3	0	3	rs397823434|rs35401447	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:101350670C>T	ENST00000534062.1	-	1	514	c.456G>A	c.(454-456)gaG>gaA	p.E152E	MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	152					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCTGGTTTTGCTCTTGAGGAG	0.517																																																	0													246	212	223					14																	101350670		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.456G>A	14.37:g.101350670C>T			E9PKS8	Silent	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.E152	ENST00000534062.1	37	c.456	CCDS53910.1	14																																																																																			RTL1	-	NULL	ENSG00000254656		0.517	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1		0	52	0	C	NM_001134888		101350670	-1			no_errors	ENST00000534062	ensembl	human	known	74_37	silent	7.58	61	5	SNP	0.005	T	T	101350670	C	T	101350670	2	4	59	1	0	0	0	0	0	0	0	1	13769	796	28	3		3	RTL1	14	101350670	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	1158925	101350670	5998870	326	17034											
TMEM179	388021	genome.wustl.edu	37	chr14	105061558	105061558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccacgcccagctccaagtCgatgtcctggagctcttcac	7	9	9	16	2	2	0	1	0	1	0	6	2	5	1	4	1	2	2	4	1	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:105061558C>T	ENST00000556573.1	-	3	707	c.466G>A	c.(466-468)Gac>Aac	p.D156N	TMEM179_ENST00000341595.3_Missense_Mutation_p.D156N			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	156						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		AGCTCCAAGTCGATGTCCTGG	0.597																																																	0													79	70	73					14																	105061558		2203	4300	6503	SO:0001583	missense	0			AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 90"	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.466G>A	14.37:g.105061558C>T	ENSP00000450958:p.Asp156Asn			Missense_Mutation	SNP	NULL	p.D156N	ENST00000556573.1	37	c.466		14	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337564	0.24253	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.28255	1.62;1.62;1.62	3.87	2.93	0.34026	.	0.052955	0.64402	N	0.000001	T	0.24314	0.0589	L	0.47190	1.495	0.58432	D	0.999998	B	0.30793	0.295	B	0.23419	0.046	T	0.04268	-1.0964	10	0.39692	T	0.17	.	10.7849	0.46398	0.0:0.8997:0.0:0.1003	.	156	Q6ZVK1-2	.	N	156	ENSP00000397763:D156N;ENSP00000450958:D156N;ENSP00000340477:D156N	ENSP00000340477:D156N	D	-	1	0	RP11-614O9.3;TMEM179	104132603	0.976000	0.34144	0.177000	0.23020	0.097000	0.18754	2.454000	0.44979	0.663000	0.31027	0.555000	0.69702	GAC	TMEM179	-	NULL	ENSG00000258986		0.597	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	TMEM179	HGNC	protein_coding	OTTHUMT00000410585.1	-	0	25	0	C	NM_207379		105061558	-1	tier1	-	no_errors	ENST00000556573	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.993	T	T	105061558	C	T	105061558	3	4	59	1	0	0	0	0	1	0	0	0	16143	884	31	1	131	1	TMEM179	14	105061558	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	3710888	105061558	2287982	327	17035											
JAG2	3714	genome.wustl.edu	37	chr14	105622219	105622219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgtcgcagcgcacgcGgatctgcagctccaggtgcg	5	8	14	14	6	2	0	0	0	2	0	5	1	3	1	1	2	4	5	1	2	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:105622219G>A	ENST00000331782.3	-	4	986	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.R195C	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	195					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGCGCACGCGGATCTGCAGC	0.627																																																	0													61	44	50					14																	105622219		2196	4298	6494	SO:0001583	missense	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.583C>T	14.37:g.105622219G>A	ENSP00000328169:p.Arg195Cys		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.R195C	ENST00000331782.3	37	c.583	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	G	19.69	3.875022	0.72180	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.97016	-4.21;-4.21	4.18	4.18	0.49190	Delta/Serrate/lag-2 (DSL) protein (2);	0.000000	0.64402	U	0.000001	D	0.98419	0.9474	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98771	1.0728	10	0.87932	D	0	.	9.8707	0.41172	0.0:0.0:0.6632:0.3368	.	195;195	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	C	195	ENSP00000328169:R195C;ENSP00000328566:R195C	ENSP00000328169:R195C	R	-	1	0	JAG2	104693264	0.286000	0.24305	0.963000	0.40424	0.897000	0.52465	0.496000	0.22499	1.864000	0.54056	0.563000	0.77884	CGC	JAG2	-	pfam_DSL,smart_DSL	ENSG00000184916		0.627	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0	32	0	G			105622219	-1	tier1	-	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.998	A	A	105622219	G	A	105622219	3	1	59	1	0	0	0	0	1	0	0	0	7962	1116	39	1	3225	1	JAG2	14	105622219	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	560661	105622219	1727321	328	17036											
PACS2	23241	genome.wustl.edu	37	chr14	105849726	105849726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcccagcccccgaccccCgtgaagatcgccgtggcggg	7	5	12	17	5	0	2	0	1	0	1	2	3	1	2	6	2	1	0	6	2	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr14:105849726C>T	ENST00000325438.8	+	16	2148	c.1644C>T	c.(1642-1644)ccC>ccT	p.P548P	PACS2_ENST00000430725.2_Silent_p.P473P|PACS2_ENST00000447393.1_Silent_p.P552P|PACS2_ENST00000551743.1_Silent_p.P62P|PACS2_ENST00000458164.2_Silent_p.P552P|PACS2_ENST00000547217.1_Silent_p.P518P			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	548					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCCGACCCCCGTGAAGATCG	0.637																																																	0													60	61	61					14																	105849726		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"phosphofurin acidic cluster sorting protein 1-like"	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1644C>T	14.37:g.105849726C>T			A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	pfam_Phosphofurin_acidic_CS-1	p.P552	ENST00000325438.8	37	c.1656	CCDS32168.1	14																																																																																			PACS2	-	pfam_Phosphofurin_acidic_CS-1	ENSG00000179364		0.637	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	-	0	22	0	C	XM_377355		105849726	1	tier1	-	no_errors	ENST00000458164	ensembl	human	known	74_37	silent	44.44	15	12	SNP	0.045	T	T	105849726	C	T	105849726	2	4	59	1	0	0	0	0	0	0	0	1	11412	639	23	1		1	PACS2	14	105849726	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	227507	105849726	1499814	329	17037											
GABRA5	2558	genome.wustl.edu	37	chr15	27193133	27193133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacgcttttacaactgggaAgatgtctcaccccccaaaca	14	8	6	13	1	1	1	1	0	1	1	2	2	1	2	3	1	4	1	3	1	5	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:27193133A>G	ENST00000335625.5	+	11	2030	c.1142A>G	c.(1141-1143)aAg>aGg	p.K381R	GABRA5_ENST00000355395.5_Missense_Mutation_p.K381R|GABRA5_ENST00000400081.3_Missense_Mutation_p.K381R	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	381					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	ACAACTGGGAAGATGTCTCAC	0.438																																																	0													40	39	39					15																	27193133		1873	4106	5979	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1142A>G	15.37:g.27193133A>G	ENSP00000335592:p.Lys381Arg		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K381R	ENST00000335625.5	37	c.1142	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	A	1.504	-0.551277	0.03996	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.85556	-2.0;-2.0;-2.0	4.66	2.32	0.28847	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.887740	0.09994	N	0.729321	T	0.75339	0.3836	L	0.29908	0.895	0.35559	D	0.804555	B	0.02656	0.0	B	0.10450	0.005	T	0.65734	-0.6096	10	0.28530	T	0.3	.	7.0303	0.24962	0.7372:0.0:0.2628:0.0	.	381	P31644	GBRA5_HUMAN	R	381	ENSP00000335592:K381R;ENSP00000347557:K381R;ENSP00000382953:K381R	ENSP00000335592:K381R	K	+	2	0	GABRA5	24775879	0.998000	0.40836	0.778000	0.31720	0.063000	0.16089	0.779000	0.26746	0.262000	0.21774	0.482000	0.46254	AAG	GABRA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa5_rcpt,tigrfam_Neur_channel	ENSG00000186297		0.438	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	-	0	21	0	A			27193133	1	tier1	-	no_errors	ENST00000335625	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.987	G	G	27193133	A	G	27193133	3	3	59	1	0	0	0	0	1	0	0	0	6188	72	3	4	1176	4	GABRA5	15	27193133	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09		27193133	75338259	330	17038											
GABRA5	2558	genome.wustl.edu	37	chr15	27193248	27193248	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaagcaaaaagacttaCaacagtatcagcaaaattga	20	8	6	7	0	2	3	1	2	1	1	2	3	2	3	0	0	4	3	0	0	8	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:27193248C>A	ENST00000335625.5	+	11	2145	c.1257C>A	c.(1255-1257)taC>taA	p.Y419*	GABRA5_ENST00000355395.5_Nonsense_Mutation_p.Y419*|GABRA5_ENST00000400081.3_Nonsense_Mutation_p.Y419*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	419					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAAAGACTTACAACAGTATCA	0.433																																																	0													48	46	46					15																	27193248		1843	4102	5945	SO:0001587	stop_gained	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1257C>A	15.37:g.27193248C>A	ENSP00000335592:p.Tyr419*		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.Y419*	ENST00000335625.5	37	c.1257	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	C	38	6.811044	0.97857	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	.	.	.	4.97	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8392	0.40989	0.0:0.8367:0.0:0.1633	.	.	.	.	X	419	.	ENSP00000335592:Y419X	Y	+	3	2	GABRA5	24775994	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.605000	0.36815	2.456000	0.83038	0.591000	0.81541	TAC	GABRA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000186297		0.433	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	-	0	22	0	C			27193248	1	tier1	-	no_errors	ENST00000335625	ensembl	human	known	74_37	nonsense	61.90	8	13	SNP	1.000	A	A	27193248	C	A	27193248	4	1	59	1	0	0	0	0	0	1	0	0	6188	489	17	3	1291	3	GABRA5	15	27193248	Nonsense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	115	27193248	75338144	331	17039											
SLC12A6	9990	genome.wustl.edu	37	chr15	34544397	34544397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttataccactagccaatccaGgaatgccctggattgaagtg	12	10	9	10	0	0	1	0	1	0	0	1	3	1	3	4	2	3	0	4	2	6	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:34544397G>T	ENST00000354181.3	-	10	1799	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	SLC12A6_ENST00000558667.1_Missense_Mutation_p.P436H|SLC12A6_ENST00000397702.2_Missense_Mutation_p.P377H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.P427H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.P377H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.P436H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.P385H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P421H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.P248H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.P248H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	436					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AGCCAATCCAGGAATGCCCTG	0.388																																																	0													76	68	71					15																	34544397		2201	4298	6499	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1307C>A	15.37:g.34544397G>T	ENSP00000346112:p.Pro436His		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P427H	ENST00000354181.3	37	c.1280	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686617	0.88639	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	0.987;1.0;0.982;1.0	P;D;P;D	0.83275	0.797;0.996;0.693;0.986	D	0.95326	0.8425	10	0.87932	D	0	.	18.2333	0.89941	0.0:0.0:1.0:0.0	.	421;436;385;248	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	385;421;427;377;377;248	ENSP00000290209:P385H;ENSP00000380819:P421H;ENSP00000380814:P377H;ENSP00000387725:P377H;ENSP00000390199:P248H	ENSP00000290209:P385H	P	-	2	0	SLC12A6	32331689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.625000	0.98406	2.835000	0.97688	0.650000	0.86243	CCT	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.388	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0	17	0	G	NM_005135		34544397	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	T	T	34544397	G	T	34544397	3	4	59	1	0	0	0	0	1	0	0	0	14432	1000	35	3	2213	3	SLC12A6	15	34544397	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7351149	34544397	67986995	332	17040											
SPRED1	161742	genome.wustl.edu	37	chr15	38643496	38643496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattaaaaattaagaaGtcaaaacgaagaaaagagga	22	7	7	5	1	2	3	2	0	0	3	3	5	3	4	1	1	1	0	1	1	10	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:38643496G>T	ENST00000299084.4	+	7	1826	c.966G>T	c.(964-966)aaG>aaT	p.K322N		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	322					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAATTAAGAAGTCAAAACGAA	0.403									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0													70	69	69					15																	38643496		2200	4297	6497	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.966G>T	15.37:g.38643496G>T	ENSP00000299084:p.Lys322Asn		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.K322N	ENST00000299084.4	37	c.966	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618633	0.28801	.	.	ENSG00000166068	ENST00000299084	D	0.85484	-1.99	6.01	3.16	0.36331	.	0.231687	0.50627	D	0.000105	T	0.75693	0.3884	L	0.39397	1.21	0.37773	D	0.926755	B	0.12630	0.006	B	0.08055	0.003	T	0.66878	-0.5812	10	0.33141	T	0.24	4.4571	6.5954	0.22669	0.2745:0.1288:0.5967:0.0	.	322	Q7Z699	SPRE1_HUMAN	N	322	ENSP00000299084:K322N	ENSP00000299084:K322N	K	+	3	2	SPRED1	36430788	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.040000	0.41203	0.452000	0.26830	0.632000	0.83419	AAG	SPRED1	-	NULL	ENSG00000166068		0.403	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1		0	21	0	G			38643496	1			no_errors	ENST00000299084	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T	T	38643496	G	T	38643496	3	4	59	1	0	0	0	0	1	0	0	0	15139	1020	36	3	992	3	SPRED1	15	38643496	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4099099	38643496	63887896	333	17041											
PAK6	56924	genome.wustl.edu	37	chr15	40566472	40566472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccaagctgaaaaactctCacaaggtcagttggcacaca	15	6	7	13	0	2	1	2	1	1	0	3	1	2	1	1	2	2	3	1	2	4	1	rs371992889		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:40566472C>T	ENST00000542403.2	+	8	1984	c.1873C>T	c.(1873-1875)Cac>Tac	p.H625Y	PAK6_ENST00000441369.1_Missense_Mutation_p.H625Y|PAK6_ENST00000260404.4_Missense_Mutation_p.H625Y|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.H625Y|PAK6_ENST00000560346.1_Missense_Mutation_p.H625Y	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	625	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GAAAAACTCTCACAAGGTCAG	0.587											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	82	80					15																	40566472		2203	4300	6503	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1873C>T	15.37:g.40566472C>T	ENSP00000439597:p.His625Tyr	894	A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.H625Y	ENST00000542403.2	37	c.1873	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373652	0.42105	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000260404;ENST00000542403	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	4.96	3.05	0.35203	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.477560	0.24003	N	0.042459	T	0.39306	0.1073	N	0.04994	-0.135	0.49213	D	0.999762	B	0.02656	0.0	B	0.04013	0.001	T	0.18085	-1.0348	10	0.54805	T	0.06	.	10.703	0.45939	0.0:0.8413:0.0:0.1587	.	625	Q9NQU5	PAK6_HUMAN	Y	625	ENSP00000406873:H625Y;ENSP00000401153:H625Y;ENSP00000260404:H625Y;ENSP00000439597:H625Y	ENSP00000260404:H625Y	H	+	1	0	PAK6	38353764	1.000000	0.71417	0.768000	0.31515	0.980000	0.70556	3.024000	0.49674	0.593000	0.29745	0.561000	0.74099	CAC	PAK6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000137843		0.587	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	-	0	34	0	C			40566472	1	tier1	-	no_errors	ENST00000260404	ensembl	human	known	74_37	missense	35.14	23	13	SNP	1.000	T	T	40566472	C	T	40566472	3	4	59	1	0	0	0	0	1	0	0	0	11443	826	29	3	1899	3	PAK6	15	40566472	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	1922976	40566472	61964920	334	17042											
RAD51	5888	genome.wustl.edu	37	chr15	41011090	41011090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaacggctgctggcagtgGctgagaggtaggttactggt	8	9	17	7	1	0	2	0	1	0	2	0	3	0	2	0	6	3	6	0	6	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:41011090G>A	ENST00000267868.3	+	6	791	c.523G>A	c.(523-525)Gct>Act	p.A175T	RAD51_ENST00000382643.3_Missense_Mutation_p.A176T|RAD51_ENST00000557850.1_Missense_Mutation_p.A78T|RAD51_ENST00000532743.1_Missense_Mutation_p.A176T|RAD51_ENST00000423169.2_Missense_Mutation_p.A175T	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	175					ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA unwinding involved in DNA replication (GO:0006268)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|mitotic recombination (GO:0006312)|positive regulation of DNA ligation (GO:0051106)|protein homooligomerization (GO:0051260)|reciprocal meiotic recombination (GO:0007131)|regulation of double-strand break repair via homologous recombination (GO:0010569)	condensed chromosome (GO:0000793)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|lateral element (GO:0000800)|mitochondrion (GO:0005739)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|PML body (GO:0016605)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA polymerase binding (GO:0070182)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|single-stranded DNA binding (GO:0003697)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		GCTGGCAGTGGCTGAGAGGTA	0.473								Homologous recombination																																									0													93	90	91					15																	41011090		2203	4300	6503	SO:0001583	missense	0			D13804	CCDS10062.1, CCDS53931.1, CCDS53932.1	15q15.1	2014-06-12	2013-07-02		ENSG00000051180	ENSG00000051180			9817	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 5"	179617	"RAD51 (S. cerevisiae) homolog (E coli RecA homolog)", "RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)", "RAD51 homolog (S. cerevisiae)"	RAD51A, RECA		8358431, 8479919	Standard	NM_002875		Approved	HsRad51, HsT16930, BRCC5	uc010bbx.3	Q06609	OTTHUMG00000130067	ENST00000267868.3:c.523G>A	15.37:g.41011090G>A	ENSP00000267868:p.Ala175Thr		B0FXP0|B2R8T6|Q6FHX9|Q6ZNA8|Q9BV60	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51	p.A176T	ENST00000267868.3	37	c.526	CCDS10062.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.212762	0.95069	.	.	ENSG00000051180	ENST00000423169;ENST00000267868;ENST00000532743;ENST00000382643	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.49	3.57	0.40892	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82751	0.5105	H	0.99516	4.605	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.77004	0.97;0.989;0.989	D	0.87903	0.2692	9	.	.	.	-10.9173	11.247	0.49002	0.0707:0.1265:0.8028:0.0	.	175;176;175	Q06609-3;Q6ZNA8;Q06609	.;.;RAD51_HUMAN	T	175;175;176;176	ENSP00000406602:A175T;ENSP00000267868:A175T;ENSP00000433924:A176T;ENSP00000372088:A176T	.	A	+	1	0	RAD51	38798382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.444000	0.80532	1.296000	0.44742	0.655000	0.94253	GCT	RAD51	-	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51	ENSG00000051180		0.473	RAD51-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RAD51	HGNC	protein_coding	OTTHUMT00000252358.1	-	0	74	0	G	NM_002875, NM_133487		41011090	1	tier1	-	no_errors	ENST00000382643	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	41011090	G	A	41011090	3	1	59	1	0	0	0	0	1	0	0	0	13030	1203	42	3	666	3	RAD51	15	41011090	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	444618	41011090	61520302	335	17043											
TP53BP1	7158	genome.wustl.edu	37	chr15	43724394	43724394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagtatgttctctcacctGgctatggagcgactctgtat	7	14	9	11	1	3	0	1	0	2	0	4	2	3	1	2	2	1	4	2	2	4	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:43724394G>T	ENST00000263801.3	-	17	3910	c.3658C>A	c.(3658-3660)Cag>Aag	p.Q1220K	TP53BP1_ENST00000382044.4_Missense_Mutation_p.Q1225K|TP53BP1_ENST00000450115.2_Missense_Mutation_p.Q1225K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.Q1225K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1220					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCTCTCACCTGGCTATGGAGC	0.468								Other conserved DNA damage response genes																																									0													126	106	113					15																	43724394		2201	4298	6499	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3658C>A	15.37:g.43724394G>T	ENSP00000263801:p.Gln1220Lys		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q1225K	ENST00000263801.3	37	c.3673	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608150	0.87258	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04706	3.57;3.57;3.57;3.6	4.88	4.88	0.63580	.	0.079507	0.51477	D	0.000092	T	0.11623	0.0283	L	0.27053	0.805	0.48571	D	0.999677	D;D;D;D	0.58268	0.969;0.969;0.982;0.982	D;D;D;D	0.70227	0.93;0.93;0.968;0.968	T	0.36065	-0.9763	10	0.25106	T	0.35	-8.1293	17.1322	0.86729	0.0:0.0:1.0:0.0	.	1225;1220;1225;1225	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	K	1220;1225;1225;1225	ENSP00000263801:Q1220K;ENSP00000371475:Q1225K;ENSP00000371470:Q1225K;ENSP00000393497:Q1225K	ENSP00000263801:Q1220K	Q	-	1	0	TP53BP1	41511686	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.556000	0.67307	2.691000	0.91804	0.650000	0.86243	CAG	TP53BP1	-	NULL	ENSG00000067369		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	-	0	68	0	G			43724394	-1	tier1	-	no_errors	ENST00000382044	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	43724394	G	T	43724394	3	4	59	1	0	0	0	0	1	0	0	0	16431	1357	47	3	2308	3	TP53BP1	15	43724394	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2713304	43724394	58806998	336	17044											
SERF2	10169	genome.wustl.edu	37	chr15	44084580	44084580	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgctgccgtcgccatgacCcgtgagcaccgagccccctt	5	6	11	19	5	0	2	0	2	0	0	1	3	0	2	7	0	3	2	7	0	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:44084580C>T	ENST00000381359.1	+	3	935	c.6C>T	c.(4-6)acC>acT	p.T2T	MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409960.2_Splice_Site_p.T2T|SERF2_ENST00000249786.4_Splice_Site_p.T2T|SERF2_ENST00000339624.5_Splice_Site_p.T2T|SERF2_ENST00000402131.1_5'UTR|SERF2_ENST00000403425.1_5'UTR|SERF2_ENST00000409614.1_5'Flank|SERF2_ENST00000594896.1_5'UTR|SERF2_ENST00000409646.1_Splice_Site_p.T2T|SERF2_ENST00000409291.1_5'UTR	NM_001199877.1	NP_001186806.1	P84101	SERF2_HUMAN	small EDRK-rich factor 2	2						cytosol (GO:0005829)|nucleus (GO:0005634)				lung(1)	1		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TCGCCATGACCCGTGAGCACC	0.622											OREG0003943	type=REGULATORY REGION|Gene=LOC478280|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													126	93	104					15																	44084580		2198	4298	6496	SO:0001630	splice_region_variant	0			AF073298	CCDS32218.1, CCDS55963.1, CCDS55964.1, CCDS55965.1	15q15.1	2008-01-18			ENSG00000140264	ENSG00000140264			10757	protein-coding gene	gene with protein product		605054				9731538	Standard	NM_001199876		Approved	H4F5rel, 4F5REL, FAM2C, HsT17089	uc010bdq.3	P84101	OTTHUMG00000059935	ENST00000381359.1:c.7+1C>T	15.37:g.44084580C>T		921	A6NL45|B5MCG1|B9A026|O75918|O88891|Q9BZH7	Silent	SNP	pfam_Uncharacterised_SERF	p.T2	ENST00000381359.1	37	c.6	CCDS32218.1	15																																																																																			SERF2	-	pfam_Uncharacterised_SERF	ENSG00000140264		0.622	SERF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERF2	HGNC	protein_coding	OTTHUMT00000133233.2	-	0	50	0	C	NM_005770	Silent	44084580	1	tier1	-	no_errors	ENST00000448830	ensembl	human	known	74_37	silent	31.71	28	13	SNP	1.000	T	T	44084580	C	T	44084580	5	4	59	1	0	0	0	0	0	0	1	0	14121	637	22	3	8	3	SERF2	15	44084580	Splice_Site	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	360186	44084580	58446812	337	17045											
MFAP1	4236	genome.wustl.edu	37	chr15	44107214	44107214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccaagcatctccttctaCttctgagtcactctctccta	7	13	5	16	1	5	1	1	1	4	0	8	1	6	1	3	0	2	1	3	0	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:44107214C>T	ENST00000267812.3	-	3	590	c.358G>A	c.(358-360)Gta>Ata	p.V120I		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	120					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCCTTCTACTTCTGAGTCA	0.413																																																	0													259	235	243					15																	44107214		2198	4298	6496	SO:0001583	missense	0				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.358G>A	15.37:g.44107214C>T	ENSP00000267812:p.Val120Ile		Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.V120I	ENST00000267812.3	37	c.358	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950937	0.53186	.	.	ENSG00000140259	ENST00000267812	.	.	.	5.77	3.87	0.44632	.	0.305106	0.37393	N	0.002111	T	0.41465	0.1160	L	0.47716	1.5	0.34262	D	0.680035	B	0.02656	0.0	B	0.01281	0.0	T	0.46484	-0.9188	9	0.37606	T	0.19	-11.1703	6.5814	0.22596	0.135:0.6656:0.1301:0.0693	.	120	P55081	MFAP1_HUMAN	I	120	.	ENSP00000267812:V120I	V	-	1	0	MFAP1	41894506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.432000	0.52824	0.871000	0.35750	0.655000	0.94253	GTA	MFAP1	-	NULL	ENSG00000140259		0.413	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	-	0	52	0	C	NM_005926		44107214	-1	tier1	-	no_errors	ENST00000267812	ensembl	human	known	74_37	missense	42.50	23	17	SNP	0.998	T	T	44107214	C	T	44107214	3	4	59	1	0	0	0	0	1	0	0	0	9551	565	20	3	989	3	MFAP1	15	44107214	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	22634	44107214	58424178	338	17046											
SLC12A1	6557	genome.wustl.edu	37	chr15	48499977	48499977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccagtaataccaatcgcTttcaagttagtgtcataaat	13	13	6	9	1	2	0	2	0	0	0	3	0	2	0	2	0	2	3	2	0	7	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:48499977T>C	ENST00000558405.1	+	1	75	c.61T>C	c.(61-63)Ttt>Ctt	p.F21L	SLC12A1_ENST00000561031.1_Missense_Mutation_p.F21L|SLC12A1_ENST00000396577.3_Missense_Mutation_p.F21L|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F21L|SLC12A1_ENST00000330289.6_Missense_Mutation_p.F21L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	21					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TACCAATCGCTTTCAAGTTAG	0.403																																																	0													54	52	53					15																	48499977		2198	4297	6495	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.61T>C	15.37:g.48499977T>C	ENSP00000453409:p.Phe21Leu		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F21L	ENST00000558405.1	37	c.61	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	T	23.5	4.429601	0.83776	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.92595	-2.03;-2.03;-3.07	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000002	D	0.91195	0.7226	N	0.08118	0	0.44254	D	0.997101	P;D	0.69078	0.93;0.997	P;D	0.79784	0.496;0.993	D	0.93621	0.6948	10	0.87932	D	0	.	15.3794	0.74641	0.0:0.0:0.0:1.0	.	21;21	Q8IUN5;Q13621	.;S12A1_HUMAN	L	21	ENSP00000370381:F21L;ENSP00000379822:F21L;ENSP00000331550:F21L	ENSP00000331550:F21L	F	+	1	0	SLC12A1	46287269	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.894000	0.69806	2.030000	0.59900	0.460000	0.39030	TTT	SLC12A1	-	NULL	ENSG00000074803		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	21	0	T			48499977	1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	C	C	48499977	T	C	48499977	3	2	59	1	0	0	0	0	1	0	0	0	14427	1609	56	4	63	4	SLC12A1	15	48499977	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	4392763	48499977	54031415	339	17047											
SLC12A1	6557	genome.wustl.edu	37	chr15	48527094	48527094	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaatatttgcagaaaacTttgggccacgcttcacaaag	14	10	7	10	1	2	1	2	0	0	1	2	1	2	1	1	1	2	2	1	1	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:48527094T>G	ENST00000558405.1	+	8	1122	c.1108T>G	c.(1108-1110)Ttt>Gtt	p.F370V	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000396577.3_Missense_Mutation_p.F370V|SLC12A1_ENST00000380993.3_Missense_Mutation_p.F370V|SLC12A1_ENST00000330289.6_Missense_Mutation_p.F370V			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	370					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGCAGAAAACTTTGGGCCACG	0.403																																																	0													83	86	85					15																	48527094		2198	4297	6495	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1108T>G	15.37:g.48527094T>G	ENSP00000453409:p.Phe370Val		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F370V	ENST00000558405.1	37	c.1108	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511784	0.85389	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.98987	-5.3;-5.3;-5.3	5.06	5.06	0.68205	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	M	0.66506	2.035	0.80722	D	1	P;D;D	0.55605	0.774;0.972;0.972	P;P;P	0.58721	0.688;0.844;0.808	D	0.99640	1.0988	10	0.72032	D	0.01	.	15.1141	0.72388	0.0:0.0:0.0:1.0	.	370;370;370	Q8IUN5;E9PDW4;Q13621	.;.;S12A1_HUMAN	V	183;370;370;370	ENSP00000370381:F370V;ENSP00000379822:F370V;ENSP00000331550:F370V	ENSP00000331550:F370V	F	+	1	0	SLC12A1	46314386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.981000	0.63819	2.032000	0.59987	0.383000	0.25322	TTT	SLC12A1	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.403	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	42	0	T			48527094	1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	G	G	48527094	T	G	48527094	3	3	59	1	0	0	0	0	1	0	0	0	14427	1609	56	4	1238	4	SLC12A1	15	48527094	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	27117	48527094	54004298	340	17048											
TRPM7	54822	genome.wustl.edu	37	chr15	50870860	50870860	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taatgttccttcttcagatgGcctaaagaaacaccaaaaaa	17	10	5	9	0	2	2	1	0	1	2	3	2	3	2	3	1	1	1	3	1	7	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:50870860G>A	ENST00000313478.7	-	31	4875	c.4594C>T	c.(4594-4596)Cca>Tca	p.P1532S	TRPM7_ENST00000560955.1_Splice_Site_p.P1531S|TRPM7_ENST00000561443.1_5'UTR	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1532					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCTTCAGATGGCCTAAAGAAA	0.279																																																	0													127	114	118					15																	50870860		1829	4081	5910	SO:0001630	splice_region_variant	0			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.4593-1C>T	15.37:g.50870860G>A			Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.P1532S	ENST00000313478.7	37	c.4594	CCDS42035.1	15	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519387	0.44866	.	.	ENSG00000092439	ENST00000313478	T	0.49432	0.78	5.49	4.57	0.56435	.	0.781765	0.12209	N	0.489485	T	0.23492	0.0568	N	0.02247	-0.625	0.46131	D	0.99888	B	0.02656	0.0	B	0.01281	0.0	T	0.06516	-1.0822	10	0.22109	T	0.4	-6.4728	11.4698	0.50261	0.0842:0.0:0.9158:0.0	.	1532	Q96QT4	TRPM7_HUMAN	S	1532	ENSP00000320239:P1532S	ENSP00000320239:P1532S	P	-	1	0	TRPM7	48658152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.496000	0.45346	1.439000	0.47511	0.655000	0.94253	CCA	TRPM7	-	NULL	ENSG00000092439		0.279	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	-	0	52	0	G	NM_017672	Missense_Mutation	50870860	-1	tier1	-	no_errors	ENST00000313478	ensembl	human	known	74_37	missense	43.55	35	27	SNP	1.000	A	A	50870860	G	A	50870860	5	1	59	1	0	0	0	0	0	0	1	0	16639	1217	42	3	1039	3	TRPM7	15	50870860	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2343766	50870860	51660532	341	17049											
MYO5A	4644	genome.wustl.edu	37	chr15	52668563	52668563	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgggcctggtagccccGcacgtatctctgcatggtga	6	9	12	14	3	1	1	0	1	1	0	3	1	1	1	4	3	2	4	4	3	2	2	rs376727710		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:52668563G>T	ENST00000399231.3	-	19	2644	c.2401C>A	c.(2401-2403)Cgg>Agg	p.R801R	MYO5A_ENST00000356338.6_Silent_p.R801R|MYO5A_ENST00000358212.6_Silent_p.R801R|MYO5A_ENST00000399233.2_Silent_p.R801R|MYO5A_ENST00000553916.1_Silent_p.R801R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	801	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGGTAGCCCCGCACGTATCTC	0.562																																																	0													63	64	64					15																	52668563		1949	4167	6116	SO:0001819	synonymous_variant	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2401C>A	15.37:g.52668563G>T			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R801	ENST00000399231.3	37	c.2401	CCDS42037.1	15																																																																																			MYO5A	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000197535		0.562	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1		0	31	0	G	NM_000259		52668563	-1			no_errors	ENST00000358212	ensembl	human	known	74_37	silent	8.33	32	3	SNP	1.000	T	T	52668563	G	T	52668563	2	4	59	1	0	0	0	0	0	0	0	1	10116	1086	38	2		2	MYO5A	15	52668563	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1797703	52668563	49862829	342	17050											
MYO5A	4644	genome.wustl.edu	37	chr15	52675383	52675383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgcagggagtttctGaactgcatgaaaaagggcag	13	7	15	6	0	1	2	0	2	1	0	1	3	1	3	0	3	4	5	0	3	3	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:52675383G>T	ENST00000399231.3	-	16	2160	c.1917C>A	c.(1915-1917)ttC>ttA	p.F639L	MYO5A_ENST00000356338.6_Missense_Mutation_p.F639L|MYO5A_ENST00000358212.6_Missense_Mutation_p.F639L|MYO5A_ENST00000399233.2_Missense_Mutation_p.F639L|MYO5A_ENST00000553916.1_Missense_Mutation_p.F639L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	639	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGGAGTTTCTGAACTGCATGA	0.453																																																	0													149	136	140					15																	52675383		1953	4164	6117	SO:0001583	missense	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1917C>A	15.37:g.52675383G>T	ENSP00000382177:p.Phe639Leu		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F639L	ENST00000399231.3	37	c.1917	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211242	0.79240	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	5.68	4.76	0.60689	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98340	0.9449	H	0.95260	3.645	0.80722	D	1	D;P	0.65815	0.995;0.936	D;P	0.63877	0.919;0.725	D	0.98725	1.0710	10	0.87932	D	0	.	10.6536	0.45663	0.1678:0.0:0.8321:0.0	.	639;639	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	L	639;173;639;639;639;269;639	ENSP00000382177:F639L;ENSP00000382179:F639L;ENSP00000348693:F639L;ENSP00000350945:F639L;ENSP00000451109:F639L	ENSP00000348693:F639L	F	-	3	2	MYO5A	50462675	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.422000	0.34826	1.387000	0.46486	0.557000	0.71058	TTC	MYO5A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197535		0.453	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	-	0	32	0	G	NM_000259		52675383	-1	tier1	-	no_errors	ENST00000358212	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	52675383	G	T	52675383	3	4	59	1	0	0	0	0	1	0	0	0	10116	1281	45	3	3754	3	MYO5A	15	52675383	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6820	52675383	49856009	343	17051											
MTFMT	123263	genome.wustl.edu	37	chr15	65295576	65295576	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgagcatcactgatcGaacaccaatccaaccatcct	12	11	4	14	1	2	2	1	2	1	0	5	3	4	2	4	0	3	1	4	0	3	2	rs200286768		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:65295576G>T	ENST00000220058.4	-	9	1007	c.994C>A	c.(994-996)Cga>Aga	p.R332R		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	332						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)	p.R332*(2)		endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATCACTGATCGAACACCAATC	0.378																																																	2	Substitution - Nonsense(2)	large_intestine(2)											73	63	66					15																	65295576		1864	4104	5968	SO:0001819	synonymous_variant	0			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.994C>A	15.37:g.65295576G>T			B7Z734	Silent	SNP	pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt	p.R332	ENST00000220058.4	37	c.994	CCDS45280.1	15																																																																																			MTFMT	-	pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,tigrfam_Fmt	ENSG00000103707		0.378	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFMT	HGNC	protein_coding	OTTHUMT00000418155.1		0	26	0	G	NM_139242		65295576	-1			no_errors	ENST00000220058	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.104	T	T	65295576	G	T	65295576	2	4	59	1	0	0	0	0	0	0	0	1	9962	1066	37	2		2	MTFMT	15	65295576	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	12620193	65295576	37235816	344	17052											
MTFMT	123263	genome.wustl.edu	37	chr15	65312612	65312613	+	Splice_Site	INS	-	-	A																															tttcaaaactgaaatgagctINSacaaaaaaaaaaaaaagagt																								rs368210383		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:65312612_65312613insA	ENST00000220058.4	-	5	659		c.e5-2		MTFMT_ENST00000561025.1_5'Flank	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase							mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TGAAATGAGCTACAAAAAAAAA	0.381																																																	0																																										SO:0001630	splice_region_variant	0			AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.646-2->T	15.37:g.65312613_65312613dupA			B7Z734	Splice_Site	INS	-	e5-2	ENST00000220058.4	37	c.646-3_646-2	CCDS45280.1	15																																																																																			MTFMT	-	-	ENSG00000103707		0.381	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFMT	HGNC	protein_coding	OTTHUMT00000418155.1		0	8	0	-	NM_139242	Intron	65312613	-1	tier1		no_errors	ENST00000220058	ensembl	human	known	74_37	splice_site_ins	40.00	6	4	INS	0.991:0.138	A	A	65312613	-	A	65312612	8	5	59	1	0	1	1	0	0	0	1	0	9962	1536	53	0	545	0	MTFMT	15	65312612	Splice_Site	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	17036	65312612	37218780	345	17053											
IGDCC3	9543	genome.wustl.edu	37	chr15	65667684	65667684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactataggctgcccggggaCggcaacatcatcacttggct	9	8	11	13	2	2	0	2	0	0	0	2	1	2	1	1	5	2	3	1	5	3	3	rs534017016		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:65667684C>T	ENST00000327987.4	-	2	411	c.160G>A	c.(160-162)Gtc>Atc	p.V54I		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	54	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCCGGGGACGGCAACATCA	0.572																																																	0													39	32	34					15																	65667684		2201	4299	6500	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.160G>A	15.37:g.65667684C>T	ENSP00000332773:p.Val54Ile		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V54I	ENST00000327987.4	37	c.160	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393000	0.25118	.	.	ENSG00000174498	ENST00000327987	T	0.66638	-0.22	5.63	2.75	0.32379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.450401	0.21035	N	0.081262	T	0.54711	0.1875	L	0.32530	0.975	0.09310	N	0.999999	P	0.52463	0.953	B	0.43990	0.438	T	0.44421	-0.9329	10	0.32370	T	0.25	-18.4398	10.405	0.44252	0.0:0.7883:0.0:0.2117	.	54	Q8IVU1	IGDC3_HUMAN	I	54	ENSP00000332773:V54I	ENSP00000332773:V54I	V	-	1	0	IGDCC3	63454737	0.998000	0.40836	0.000000	0.03702	0.000000	0.00434	3.940000	0.56599	0.330000	0.23485	-0.742000	0.03525	GTC	IGDCC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000174498		0.572	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0	28	0	C	NM_004884		65667684	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.131	T	T	65667684	C	T	65667684	3	4	59	1	0	0	0	0	1	0	0	0	7595	536	19	1	2336	1	IGDCC3	15	65667684	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	355072	65667684	36863708	346	17054											
DENND4A	10260	genome.wustl.edu	37	chr15	65957686	65957686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgatggcacttactgtGtgcattccagagaatgtaca	11	13	9	8	0	1	2	0	1	1	1	2	3	2	2	1	1	3	3	1	1	4	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:65957686G>T	ENST00000431932.2	-	29	5432	c.5224C>A	c.(5224-5226)Cac>Aac	p.H1742N	DENND4A_ENST00000443035.3_Missense_Mutation_p.H1785N	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1742					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CACTTACTGTGTGCATTCCAG	0.343																																																	0													137	135	136					15																	65957686		1906	4119	6025	SO:0001583	missense	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5224C>A	15.37:g.65957686G>T	ENSP00000396830:p.His1742Asn		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.H1785N	ENST00000431932.2	37	c.5353	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486835	0.26686	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04502	3.61;3.61	5.7	5.7	0.88788	.	0.284657	0.41194	D	0.000924	T	0.03739	0.0106	N	0.20483	0.58	0.28604	N	0.908996	B;B	0.33413	0.242;0.411	B;B	0.26969	0.054;0.075	T	0.40869	-0.9540	10	0.26408	T	0.33	.	14.6472	0.68769	0.0:0.0:0.8545:0.1454	.	1785;1742	E7EPL3;Q7Z401	.;MYCPP_HUMAN	N	1785;1742	ENSP00000391167:H1785N;ENSP00000396830:H1742N	ENSP00000396830:H1742N	H	-	1	0	DENND4A	63744740	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.224000	0.72265	2.684000	0.91462	0.650000	0.86243	CAC	DENND4A	-	NULL	ENSG00000174485		0.343	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	-	0	41	0	G	NM_005848		65957686	-1	tier1	-	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	65957686	G	T	65957686	3	4	59	1	0	0	0	0	1	0	0	0	4447	1377	48	3	383	3	DENND4A	15	65957686	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	290002	65957686	36573706	347	17055											
CYP1A1	1543	genome.wustl.edu	37	chr15	75014808	75014808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggctaagcagttcttggtGgttgtggtcatagcgccggc	6	12	15	8	2	2	0	1	0	1	0	2	0	2	0	1	5	2	4	1	5	3	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:75014808G>T	ENST00000379727.3	-	2	829	c.631C>A	c.(631-633)Cac>Aac	p.H211N	CYP1A1_ENST00000395048.2_Missense_Mutation_p.H211N|CYP1A1_ENST00000567032.1_Missense_Mutation_p.H211N|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395049.4_Missense_Mutation_p.H211N			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	211					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	AGTTCTTGGTGGTTGTGGTCA	0.512									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																								0													98	99	99					15																	75014808		2197	4296	6493	SO:0001583	missense	0	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.631C>A	15.37:g.75014808G>T	ENSP00000369050:p.His211Asn		A4F3V9|A4F3W0|Q53G18	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.H211N	ENST00000379727.3	37	c.631	CCDS10268.1	15	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457206	0.26161	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	T;T;T	0.77750	-1.12;-1.12;-1.12	5.0	-7.25	0.01470	.	0.276188	0.44902	N	0.000413	T	0.35335	0.0928	N	0.00315	-1.66	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.46176	-0.9210	10	0.36615	T	0.2	.	9.9346	0.41543	0.0:0.6241:0.1292:0.2467	.	211;211	E7EMT5;P04798	.;CP1A1_HUMAN	N	211	ENSP00000369050:H211N;ENSP00000378488:H211N;ENSP00000378489:H211N	ENSP00000268062:H211N	H	-	1	0	CYP1A1	72801861	0.000000	0.05858	0.001000	0.08648	0.777000	0.43975	-0.271000	0.08572	-1.609000	0.01585	-0.410000	0.06199	CAC	CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000140465		0.512	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1		0	35	0	G	NM_000499		75014808	-1			no_errors	ENST00000379727	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.134	T	T	75014808	G	T	75014808	3	4	59	1	0	0	0	0	1	0	0	0	4158	1348	47	3	931	3	CYP1A1	15	75014808	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	9057122	75014808	27516584	348	17056											
KIAA1199	57214	genome.wustl.edu	37	chr15	81221497	81221497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcttggaccatagcggaaGgaccctccctataggccagt	9	7	12	13	2	0	0	0	0	0	0	1	3	1	3	4	5	1	1	4	5	4	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:81221497G>T	ENST00000394685.3	+	21	3013	c.2594G>T	c.(2593-2595)aGg>aTg	p.R865M	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R865M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.R865M			Q8WUJ3	CEMIP_HUMAN		865					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CATAGCGGAAGGACCCTCCCT	0.507																																																	0													116	112	113					15																	81221497		2203	4300	6503	SO:0001583	missense	0																														ENST00000394685.3:c.2594G>T	15.37:g.81221497G>T	ENSP00000378177:p.Arg865Met		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.R865M	ENST00000394685.3	37	c.2594	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339878	0.60963	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.61274	0.12;0.12;0.12	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	M	0.83223	2.63	0.50313	D	0.999861	D	0.89917	1.0	D	0.83275	0.996	T	0.80544	-0.1335	10	0.51188	T	0.08	-38.0867	18.2156	0.89884	0.0:0.0:1.0:0.0	.	865	Q8WUJ3	K1199_HUMAN	M	865	ENSP00000220244:R865M;ENSP00000378177:R865M;ENSP00000348583:R865M	ENSP00000220244:R865M	R	+	2	0	KIAA1199	79008552	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	8.701000	0.91331	2.518000	0.84900	0.655000	0.94253	AGG	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.507	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1		0	37	0	G			81221497	1			no_errors	ENST00000220244	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	81221497	G	T	81221497	3	4	59	1	0	0	0	0	1	0	0	0	8240	1000	35	3	2668	3	KIAA1199	15	81221497	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6206689	81221497	21309895	349	17057											
PDE8A	5151	genome.wustl.edu	37	chr15	85681097	85681097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactggaaaggactggacgAaatgaagctgcggaacctcc	14	6	12	9	2	0	1	0	1	0	0	1	6	1	5	2	4	4	1	2	4	5	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:85681097A>G	ENST00000310298.4	+	23	2705	c.2453A>G	c.(2452-2454)gAa>gGa	p.E818G	PDE8A_ENST00000394553.1_Missense_Mutation_p.E818G|PDE8A_ENST00000557957.1_Missense_Mutation_p.E746G|PDE8A_ENST00000339708.5_Missense_Mutation_p.E772G			O60658	PDE8A_HUMAN	phosphodiesterase 8A	818					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGACTGGACGAAATGAAGCTG	0.473																																																	0													98	82	88					15																	85681097		2203	4299	6502	SO:0001583	missense	0			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"Phosphodiesterases"	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2453A>G	15.37:g.85681097A>G	ENSP00000311453:p.Glu818Gly		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.E818G	ENST00000310298.4	37	c.2453	CCDS10336.1	15	.	.	.	.	.	.	.	.	.	.	A	11.32	1.603154	0.28534	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.78481	-1.18;-1.18;-1.18	5.49	4.38	0.52667	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.866393	0.10264	N	0.695652	T	0.75206	0.3818	M	0.63428	1.95	0.50313	D	0.999863	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.0	T	0.69057	-0.5246	10	0.62326	D	0.03	.	9.7256	0.40330	0.919:0.0:0.081:0.0	.	772;818	O60658-2;O60658	.;PDE8A_HUMAN	G	818;818;772	ENSP00000311453:E818G;ENSP00000378056:E818G;ENSP00000340679:E772G	ENSP00000311453:E818G	E	+	2	0	PDE8A	83482101	1.000000	0.71417	0.011000	0.14972	0.001000	0.01503	5.326000	0.65875	1.100000	0.41517	-0.274000	0.10170	GAA	PDE8A	-	NULL	ENSG00000073417		0.473	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1		0	10	0	A	NM_002605		85681097	1			no_errors	ENST00000310298	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.893	G	G	85681097	A	G	85681097	3	3	59	1	0	0	0	0	1	0	0	0	11692	246	9	4	2539	4	PDE8A	15	85681097	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	4459600	85681097	16850295	350	17058											
NTRK3	4916	genome.wustl.edu	37	chr15	88799256	88799256	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtccggccgccggcaattGatctcagtcttgctgcagac	6	10	11	14	4	2	2	1	1	2	1	5	2	3	2	3	2	2	3	3	2	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:88799256G>A	ENST00000360948.2	-	2	290	c.129C>T	c.(127-129)atC>atT	p.I43I	NTRK3_ENST00000317501.3_Silent_p.I43I|NTRK3_ENST00000558676.1_Silent_p.I43I|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000394480.2_Silent_p.I43I|NTRK3_ENST00000557856.1_Silent_p.I43I|NTRK3_ENST00000357724.2_Silent_p.I43I|NTRK3_ENST00000540489.2_Silent_p.I43I|NTRK3_ENST00000355254.2_Silent_p.I43I	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	43					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCGGCAATTGATCTCAGTCT	0.562			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													275	229	244					15																	88799256		2201	4299	6500	SO:0001819	synonymous_variant	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.129C>T	15.37:g.88799256G>A			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I43	ENST00000360948.2	37	c.129	CCDS32322.1	15																																																																																			NTRK3	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000140538		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0	48	0	G			88799256	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	silent	24.07	41	13	SNP	1.000	A	A	88799256	G	A	88799256	2	1	59	1	0	0	0	0	0	0	0	1	10747	1280	45	3		3	NTRK3	15	88799256	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	3118159	88799256	13732136	351	17059											
C15orf42	90381	genome.wustl.edu	37	chr15	90145182	90145182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgatgaactgcaggaacttCgtaccagatcagccaagaag	14	7	10	10	1	1	4	1	2	0	2	2	5	1	5	2	1	5	2	2	1	5	2	rs201733600		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr15:90145182C>G	ENST00000268138.7	+	12	2647	c.2542C>G	c.(2542-2544)Cgt>Ggt	p.R848G	TICRR_ENST00000560985.1_Missense_Mutation_p.R847G			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	848					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCAGGAACTTCGTACCAGATC	0.408																																																	0													90	81	84					15																	90145182		1896	4125	6021	SO:0001583	missense	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2542C>G	15.37:g.90145182C>G	ENSP00000268138:p.Arg848Gly		B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.R848G	ENST00000268138.7	37	c.2542	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618292	0.66787	.	.	ENSG00000140534	ENST00000268138	T	0.17054	2.3	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.72894	2.215	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	T	0.17077	-1.0381	10	0.56958	D	0.05	-18.8599	20.3242	0.98691	0.0:1.0:0.0:0.0	.	848	Q7Z2Z1	TICRR_HUMAN	G	848	ENSP00000268138:R848G	ENSP00000268138:R848G	R	+	1	0	C15orf42	87946186	1.000000	0.71417	0.928000	0.36995	0.549000	0.35272	4.101000	0.57769	2.882000	0.98803	0.655000	0.94253	CGT	TICRR	-	NULL	ENSG00000140534		0.408	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0	12	0	C	NM_152259		90145182	1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	missense	55.00	9	11	SNP	1.000	G	G	90145182	C	G	90145182	3	3	59	1	0	0	0	0	1	0	0	0	1801	884	31	5	2588	5	C15orf42	15	90145182	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	1345926	90145182	12386210	352	17060											
CREBBP	1387	genome.wustl.edu	37	chr16	3789596	3789596	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctcgtgtttggagggggGcaatcagagccgtattcttg	7	12	14	8	2	2	1	1	0	1	1	3	2	2	2	2	4	2	3	2	4	3	5	rs61731413	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:3789596G>T	ENST00000262367.5	-	25	5072	c.4263C>A	c.(4261-4263)tgC>tgA	p.C1421*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.C1383*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1421	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGAGGGGGGCAATCAGAGC	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													74	69	70					16																	3789596		2197	4300	6497	SO:0001587	stop_gained	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4263C>A	16.37:g.3789596G>T	ENSP00000262367:p.Cys1421*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.C1421*	ENST00000262367.5	37	c.4263	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	g	16.05	3.012573	0.54468	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	.	.	.	5.36	1.22	0.21188	.	0.128977	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7453	11.1501	0.48453	0.2507:0.0:0.7493:0.0	.	.	.	.	X	1421;1451;1383;10	.	ENSP00000262367:C1421X	C	-	3	2	CREBBP	3729597	0.996000	0.38824	1.000000	0.80357	0.949000	0.60115	0.349000	0.20055	0.496000	0.27904	0.561000	0.74099	TGC	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000005339		0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	23	0	G	NM_004380		3789596	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	nonsense	15.38	22	4	SNP	0.998	T	T	3789596	G	T	3789596	4	4	59	1	0	0	0	0	0	1	0	0	3868	1195	42	3	3093	3	CREBBP	16	3789596	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		3789596	86565157	353	17061											
IL27	246778	genome.wustl.edu	37	chr16	28515212	28515212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttacaaagcggtgggccTggccccgaacctcggagagc	9	5	14	13	3	0	1	0	0	0	1	1	4	0	1	4	4	4	0	4	4	3	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:28515212T>C	ENST00000356897.1	-	2	213	c.191A>G	c.(190-192)cAg>cGg	p.Q64R		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCGGTGGGCCTGGCCCCGAAC	0.667																																																	0													36	39	38					16																	28515212		2197	4300	6497	SO:0001583	missense	0			AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"Interleukins and interleukin receptors"	19157	protein-coding gene	gene with protein product		608273	"interleukin 30"	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.191A>G	16.37:g.28515212T>C	ENSP00000349365:p.Gln64Arg		B1AM69	Missense_Mutation	SNP	superfamily_4_helix_cytokine-like_core	p.Q64R	ENST00000356897.1	37	c.191	CCDS10633.1	16	.	.	.	.	.	.	.	.	.	.	T	9.942	1.217821	0.22373	.	.	ENSG00000197272	ENST00000356897	T	0.35236	1.32	4.37	1.93	0.25924	.	1.108720	0.06968	N	0.817512	T	0.29850	0.0746	L	0.42245	1.32	0.09310	N	1	B	0.32160	0.358	B	0.29785	0.107	T	0.27571	-1.0070	10	0.48119	T	0.1	-0.0307	6.559	0.22476	0.5247:0.0:0.0:0.4753	.	64	Q8NEV9	IL27A_HUMAN	R	64	ENSP00000349365:Q64R	ENSP00000349365:Q64R	Q	-	2	0	IL27	28422713	0.850000	0.29656	0.044000	0.18714	0.700000	0.40528	1.433000	0.34947	0.514000	0.28300	0.449000	0.29647	CAG	IL27	-	superfamily_4_helix_cytokine-like_core	ENSG00000197272		0.667	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27	HGNC	protein_coding	OTTHUMT00000214114.1	-	0	16	0	T	NM_145659		28515212	-1	tier1	-	no_errors	ENST00000356897	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.027	C	C	28515212	T	C	28515212	3	2	59	1	0	0	0	0	1	0	0	0	7707	1580	55	4	556	4	IL27	16	28515212	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	24725616	28515212	61839541	354	17062											
SALL1	6299	genome.wustl.edu	37	chr16	51174409	51174409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatggggatgggggctGgctcttccgtcttgatgaag	5	11	18	7	1	2	3	0	3	2	0	3	4	3	4	1	6	0	3	1	6	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:51174409G>T	ENST00000251020.4	-	2	1757	c.1724C>A	c.(1723-1725)cCa>cAa	p.P575Q	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.P478Q|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	575					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GATGGGGGCTGGCTCTTCCGT	0.607																																					GBM(103;1352 1446 1855 4775 8890)												0													42	47	45					16																	51174409		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1724C>A	16.37:g.51174409G>T	ENSP00000251020:p.Pro575Gln		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P575Q	ENST00000251020.4	37	c.1724	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282368	0.59867	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07216	3.22;3.21	5.32	5.32	0.75619	.	0.103319	0.64402	D	0.000002	T	0.28400	0.0702	M	0.72353	2.195	0.58432	D	0.99999	D	0.76494	0.999	D	0.66196	0.942	T	0.00585	-1.1658	10	0.42905	T	0.14	.	18.9957	0.92812	0.0:0.0:1.0:0.0	.	575	Q9NSC2	SALL1_HUMAN	Q	575;478;539	ENSP00000251020:P575Q;ENSP00000407914:P478Q	ENSP00000251020:P575Q	P	-	2	0	SALL1	49731910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.326000	0.65875	2.475000	0.83589	0.557000	0.71058	CCA	SALL1	-	NULL	ENSG00000103449		0.607	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	16	0	G	NM_002968		51174409	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	60.00	4	6	SNP	1.000	T	T	51174409	G	T	51174409	3	4	59	1	0	0	0	0	1	0	0	0	13855	1348	47	3	2258	3	SALL1	16	51174409	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	22659197	51174409	39180344	355	17063											
CDH11	1009	genome.wustl.edu	37	chr16	65016132	65016132	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagggccattgctgataaActtcgggtcgatgtgcacgt	10	10	13	8	3	0	1	0	1	0	0	2	3	0	1	1	2	3	2	1	2	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:65016132A>C	ENST00000268603.4	-	8	1687	c.1072T>G	c.(1072-1074)Ttt>Gtt	p.F358V	CDH11_ENST00000394156.3_Missense_Mutation_p.F358V|CDH11_ENST00000566827.1_Missense_Mutation_p.F232V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	358	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGCTGATAAACTTCGGGTCG	0.473			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													147	117	127					16																	65016132		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1072T>G	16.37:g.65016132A>C	ENSP00000268603:p.Phe358Val		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F358V	ENST00000268603.4	37	c.1072	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	25.7	4.665117	0.88251	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.57273	0.41;0.44	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.044072	0.85682	D	0.000000	T	0.71728	0.3374	M	0.81497	2.545	0.58432	D	0.999998	P;P	0.43392	0.805;0.747	P;P	0.58172	0.559;0.834	T	0.75218	-0.3395	10	0.72032	D	0.01	.	15.2783	0.73760	1.0:0.0:0.0:0.0	.	358;358	P55287-2;P55287	.;CAD11_HUMAN	V	358;358;341	ENSP00000268603:F358V;ENSP00000377711:F358V	ENSP00000268603:F358V	F	-	1	0	CDH11	63573633	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.818000	0.91991	2.269000	0.75478	0.533000	0.62120	TTT	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.473	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	67	0	A	NM_033664		65016132	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	60.61	13	20	SNP	1.000	C	C	65016132	A	C	65016132	3	2	59	1	0	0	0	0	1	0	0	0	3104	43	2	4	1342	4	CDH11	16	65016132	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	13841723	65016132	25338621	356	17064											
FUK	197258	genome.wustl.edu	37	chr16	70501299	70501299	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcagctgggacagcttccgGggagccagagtgatcgccct	8	7	14	12	2	1	2	1	1	0	1	3	4	2	4	3	3	3	2	3	3	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:70501299G>T	ENST00000288078.6	+	7	739	c.507G>T	c.(505-507)cgG>cgT	p.R169R	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.R201R	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	169						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ACAGCTTCCGGGGAGCCAGAG	0.652																																																	0													20	24	22					16																	70501299		1915	4131	6046	SO:0001819	synonymous_variant	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.507G>T	16.37:g.70501299G>T			Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.R201	ENST00000288078.6	37	c.603	CCDS10891.2	16																																																																																			FUK	-	pfam_Fucokinase	ENSG00000157353		0.652	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	-	0	30	0	G	NM_145059		70501299	1	tier1	-	no_errors	ENST00000378912	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.997	T	T	70501299	G	T	70501299	2	4	59	1	0	0	0	0	0	0	0	1	6120	1219	43	3		3	FUK	16	70501299	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5485167	70501299	19853454	357	17065											
VAC14	55697	genome.wustl.edu	37	chr16	70819617	70819617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttaccttgctcagcccGtcaaagagcacgttgaagtg	9	9	12	11	3	2	2	2	1	0	1	2	2	2	2	2	1	4	4	2	1	3	3	rs151275776		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:70819617G>A	ENST00000261776.5	-	3	671	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	137					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCTCAGCCCGTCAAAGAGCA	0.612																																																	0								G		1,4387		0,1,2193	36	27	30		411	-8.8	0	16	dbSNP_134	30	1,8581		0,1,4290	no	coding-synonymous	VAC14	NM_018052.3		0,2,6483	AA,AG,GG		0.0117,0.0228,0.0154		137/783	70819617	2,12968	2194	4291	6485	SO:0001819	synonymous_variant	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.411C>T	16.37:g.70819617G>A			B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.D137	ENST00000261776.5	37	c.411	CCDS10896.1	16																																																																																			VAC14	-	superfamily_ARM-type_fold	ENSG00000103043		0.612	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	-	0	22	0	G	NM_018052		70819617	-1	tier1	rs151275776	no_errors	ENST00000261776	ensembl	human	known	74_37	silent	58.33	5	7	SNP	0.190	A	A	70819617	G	A	70819617	2	1	59	1	0	0	0	0	0	0	0	1	17160	1136	40	1		1	VAC14	16	70819617	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	318318	70819617	19535136	358	17066											
HYDIN	54768	genome.wustl.edu	37	chr16	71098610	71098610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaaaggaactcacctGaggctggacctcatagaatc	15	6	11	9	0	2	3	2	1	0	2	3	6	2	5	2	4	1	1	2	4	5	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:71098610G>T	ENST00000393567.2	-	16	2359	c.2209C>A	c.(2209-2211)Cag>Aag	p.Q737K	HYDIN_ENST00000541601.1_Missense_Mutation_p.Q754K|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q737K|HYDIN_ENST00000448089.2_Missense_Mutation_p.Q737K|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q764K|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q737K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	737					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.Q737*(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAACTCACCTGAGGCTGGACC	0.458																																																	3	Substitution - Nonsense(3)	lung(3)											43	41	42					16																	71098610		2197	4299	6496	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2209C>A	16.37:g.71098610G>T	ENSP00000377197:p.Gln737Lys		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.Q737K	ENST00000393567.2	37	c.2209	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867028	0.51588	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	4.8	4.8	0.61643	.	0.000000	0.31872	U	0.006930	T	0.29061	0.0722	M	0.85630	2.765	0.80722	D	1	P;D;D;P	0.61697	0.952;0.99;0.99;0.827	P;P;P;B	0.59825	0.705;0.864;0.864;0.442	T	0.39078	-0.9631	10	0.06099	T	0.92	.	16.6973	0.85339	0.0:0.0:1.0:0.0	.	764;754;737;737	B4DRN4;F5H6V3;Q4G0P3-5;F8WD23	.;.;.;.	K	737;737;737;737;737;764;754	ENSP00000377197:Q737K;ENSP00000398544:Q737K;ENSP00000394826:Q737K;ENSP00000314736:Q737K;ENSP00000444970:Q764K;ENSP00000437341:Q754K	ENSP00000313052:Q737K	Q	-	1	0	HYDIN	69656111	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.490000	0.81461	2.219000	0.72066	0.505000	0.49811	CAG	HYDIN	-	NULL	ENSG00000157423		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0	33	0	G			71098610	-1			no_errors	ENST00000448089	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	71098610	G	T	71098610	3	4	59	1	0	0	0	0	1	0	0	0	7494	1299	45	3	13449	3	HYDIN	16	71098610	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	278993	71098610	19256143	359	17067											
BCAR1	9564	genome.wustl.edu	37	chr16	75263637	75263637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgtgacagtgtgtccccGatgaacaccagcttgtgggc	7	9	13	12	2	0	2	0	2	0	0	1	3	1	2	4	1	3	1	4	1	1	1	rs141865631		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:75263637G>A	ENST00000162330.5	-	7	2511	c.2385C>T	c.(2383-2385)atC>atT	p.I795I	BCAR1_ENST00000538440.2_Silent_p.I795I|BCAR1_ENST00000420641.3_Silent_p.I813I|BCAR1_ENST00000566982.1_5'UTR|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000535626.2_Silent_p.I647I|BCAR1_ENST00000393422.2_Silent_p.I813I|BCAR1_ENST00000393420.6_Silent_p.I813I|BCAR1_ENST00000418647.3_Silent_p.I841I|BCAR1_ENST00000542031.2_Silent_p.I793I|BCAR1_ENST00000546196.1_Silent_p.I766I	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	795	Divergent helix-loop-helix motif.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I795I(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGTGTCCCCGATGAACACCA	0.632																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						G	,,,,,,,,	1,4395	2.1+/-5.4	0,1,2197	82	63	70		2523,2439,2439,2439,2385,2379,1941,1755,2385	-10.1	0.1	16	dbSNP_134	70	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_001170721.1,NM_014567.3	,,,,,,,,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,	841/917,813/889,813/889,813/889,795/871,793/869,647/723,585/661,795/871	75263637	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2385C>T	16.37:g.75263637G>A			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.I841	ENST00000162330.5	37	c.2523	CCDS10915.1	16																																																																																			BCAR1	-	pfam_CAS_DUF3513	ENSG00000050820		0.632	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0	48	0	G	NM_014567		75263637	-1	tier1	rs141865631	no_errors	ENST00000418647	ensembl	human	known	74_37	silent	75.68	9	28	SNP	0.351	A	A	75263637	G	A	75263637	2	1	59	1	0	0	0	0	0	0	0	1	1349	1048	37	1		1	BCAR1	16	75263637	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4165027	75263637	15091116	360	17068											
TUBB3	10381	genome.wustl.edu	37	chr16	90001934	90001934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgtgacatcccgcccCgcggcctcaagatgtcctcc	5	8	10	18	4	1	2	1	1	0	1	4	2	4	2	7	1	0	0	7	1	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:90001934C>A	ENST00000315491.7	+	4	1198	c.1075C>A	c.(1075-1077)Cgc>Agc	p.R359S	TUBB3_ENST00000556922.1_Missense_Mutation_p.R706S|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Missense_Mutation_p.R287S|TUBB3_ENST00000304984.5_Missense_Mutation_p.R287S	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	359					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CATCCCGCCCCGCGGCCTCAA	0.607																																																	0													175	153	160					16																	90001934		2198	4300	6498	SO:0001583	missense	0			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1075C>A	16.37:g.90001934C>A	ENSP00000320295:p.Arg359Ser		A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.R359S	ENST00000315491.7	37	c.1075	CCDS10988.1	16	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546013	0.27652	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000554444;ENST00000315491	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	4.66	4.66	0.58398	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	D	0.000026	T	0.78923	0.4360	M	0.62209	1.925	0.51012	D	0.999906	B;B	0.23490	0.007;0.086	B;B	0.25506	0.028;0.061	T	0.75213	-0.3397	9	.	.	.	.	17.5117	0.87762	0.0:1.0:0.0:0.0	.	359;359	Q13509;B2RBD5	TBB3_HUMAN;.	S	706;359;287;287;359	ENSP00000451560:R706S;ENSP00000302777:R287S;ENSP00000451617:R287S;ENSP00000320295:R359S	.	R	+	1	0	RP11-566K11.2;TUBB3	88529435	1.000000	0.71417	0.940000	0.37924	0.834000	0.47266	5.725000	0.68507	2.313000	0.78055	0.561000	0.74099	CGC	TUBB3	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin	ENSG00000258947		0.607	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	Uniprot_gn	protein_coding	OTTHUMT00000272874.1		0	47	0	C	NM_006086		90001934	1			no_errors	ENST00000315491	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	90001934	C	A	90001934	3	1	59	1	0	0	0	0	1	0	0	0	16806	652	23	2	1089	2	TUBB3	16	90001934	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	14738297	90001934	352819	361	17069											
DEF8	54849	genome.wustl.edu	37	chr16	90027487	90027487	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taccgctgtgccgagtgccgGgcgcccatctctctgcgtga	4	9	13	15	5	2	1	0	1	2	0	3	2	2	1	4	1	4	1	4	1	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr16:90027487G>T	ENST00000268676.7	+	7	935	c.846G>T	c.(844-846)cgG>cgT	p.R282R	DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Silent_p.R221R|DEF8_ENST00000570182.1_Silent_p.R211R|DEF8_ENST00000567874.1_Silent_p.R161R|DEF8_ENST00000569453.1_Silent_p.R221R|DEF8_ENST00000563594.1_Silent_p.R221R	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	282					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCGAGTGCCGGGCGCCCATCT	0.612																																																	0													75	78	77					16																	90027487		2198	4300	6498	SO:0001819	synonymous_variant	0			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.846G>T	16.37:g.90027487G>T			B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R282	ENST00000268676.7	37	c.846	CCDS10989.1	16																																																																																			DEF8	-	NULL	ENSG00000140995		0.612	DEF8-001	KNOWN	basic|CCDS	protein_coding	DEF8	HGNC	protein_coding	OTTHUMT00000272878.1	-	0	18	0	G	NM_207514		90027487	1	tier1	-	no_errors	ENST00000268676	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.941	T	T	90027487	G	T	90027487	2	4	59	1	0	0	0	0	0	0	0	1	4396	1219	43	3		3	DEF8	16	90027487	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	25553	90027487	327266	362	17070											
SPATA22	84690	genome.wustl.edu	37	chr17	3346496	3346496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagacacaaggcagagtaTttttcccatccctcataaga	16	9	6	10	0	1	3	1	0	0	3	3	3	3	3	2	1	0	2	2	1	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:3346496T>C	ENST00000573128.1	-	8	1355	c.872A>G	c.(871-873)aAt>aGt	p.N291S	SPATA22_ENST00000397168.3_Missense_Mutation_p.N291S|SPATA22_ENST00000268981.5_Intron|SPATA22_ENST00000575375.1_Missense_Mutation_p.N291S|SPATA22_ENST00000541913.1_Missense_Mutation_p.N275S|SPATA22_ENST00000355380.4_Missense_Mutation_p.N248S|SPATA22_ENST00000572969.1_Missense_Mutation_p.N291S			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	291					fertilization (GO:0009566)|gamete generation (GO:0007276)|meiotic DNA repair synthesis (GO:0000711)|regulation of meiotic cell cycle (GO:0051445)|reproductive system development (GO:0061458)|synapsis (GO:0007129)	chromosome (GO:0005694)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGGCAGAGTATTTTTCCCATC	0.358																																																	0													64	59	61					17																	3346496		2202	4298	6500	SO:0001583	missense	0			AY035868	CCDS11027.1, CCDS54066.1, CCDS54067.1	17p13.3	2005-12-19							30705	protein-coding gene	gene with protein product						12477932	Standard	NM_001170696		Approved	NYD-SP20	uc002fvn.3	Q8NHS9		ENST00000573128.1:c.872A>G	17.37:g.3346496T>C	ENSP00000459580:p.Asn291Ser		B4DXB1|D3DTI9|J3KN63|Q969H3|Q96JT4	Missense_Mutation	SNP	NULL	p.N291S	ENST00000573128.1	37	c.872	CCDS11027.1	17	.	.	.	.	.	.	.	.	.	.	T	9.727	1.161267	0.21538	.	.	ENSG00000141255	ENST00000355380;ENST00000397168;ENST00000541913	T;T;T	0.81247	-1.47;-1.47;-1.47	5.32	1.89	0.25635	.	0.497403	0.19780	N	0.106259	T	0.61464	0.2349	N	0.12182	0.205	0.24531	N	0.994115	B;B;B	0.23377	0.077;0.077;0.084	B;B;B	0.19391	0.025;0.025;0.015	T	0.48490	-0.9031	10	0.31617	T	0.26	-6.9924	8.6232	0.33872	0.0:0.2231:0.0:0.7769	.	275;248;291	F5GWB9;Q8NHS9-2;Q8NHS9	.;.;SPT22_HUMAN	S	248;291;275	ENSP00000347541:N248S;ENSP00000380354:N291S;ENSP00000441920:N275S	ENSP00000347541:N248S	N	-	2	0	SPATA22	3293246	1.000000	0.71417	0.989000	0.46669	0.903000	0.53119	2.165000	0.42396	0.103000	0.17682	-0.379000	0.06801	AAT	SPATA22	-	NULL	ENSG00000141255		0.358	SPATA22-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATA22	HGNC	protein_coding	OTTHUMT00000438067.2	-	0	35	0	T	NM_032598		3346496	-1	tier1	-	no_errors	ENST00000397168	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.989	C	C	3346496	T	C	3346496	3	2	59	1	0	0	0	0	1	0	0	0	15055	1493	52	4	227	4	SPATA22	17	3346496	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09		3346496	77848714	363	17071											
ZZEF1	23140	genome.wustl.edu	37	chr17	3912932	3912932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgacgaagaagagctcaGtgagggcacgatgcagggga	12	4	18	7	3	1	4	1	2	0	2	1	7	1	5	0	4	2	3	0	4	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:3912932G>T	ENST00000381638.2	-	53	8823	c.8699C>A	c.(8698-8700)aCt>aAt	p.T2900N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2900							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GAAGAGCTCAGTGAGGGCACG	0.627																																																	0													102	83	89					17																	3912932		2203	4300	6503	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"Zinc fingers, ZZ-type", "EF-hand domain containing"	29027	protein-coding gene	gene with protein product			"zinc finger, ZZ-type with EF hand domain 1"			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8699C>A	17.37:g.3912932G>T	ENSP00000371051:p.Thr2900Asn		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.T2900N	ENST00000381638.2	37	c.8699	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740055	0.89573	.	.	ENSG00000074755	ENST00000381638	T	0.27890	1.64	5.64	5.64	0.86602	.	0.106409	0.64402	D	0.000005	T	0.33000	0.0848	L	0.27053	0.805	0.58432	D	0.999999	P	0.51653	0.947	P	0.47346	0.544	T	0.07829	-1.0752	10	0.87932	D	0	-13.8492	20.0846	0.97795	0.0:0.0:1.0:0.0	.	2900	O43149	ZZEF1_HUMAN	N	2900	ENSP00000371051:T2900N	ENSP00000371051:T2900N	T	-	2	0	ZZEF1	3859681	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	8.938000	0.92943	2.823000	0.97156	0.643000	0.83706	ACT	ZZEF1	-	NULL	ENSG00000074755		0.627	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0	27	0	G	NM_015113		3912932	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	T	T	3912932	G	T	3912932	3	4	59	1	0	0	0	0	1	0	0	0	18303	1029	36	3	198	3	ZZEF1	17	3912932	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	566436	3912932	77282278	364	17072											
TP53	7157	genome.wustl.edu	37	chr17	7577520	7577521	+	In_Frame_Ins	INS	-	-	TGG																															ggagtcttccagtgtgatgaINStggtgaggatgggcctccgg																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:7577520_7577521insTGG	ENST00000269305.4	-	7	949_950	c.760_761insCCA	c.(760-762)atc>aCCAtc	p.253_254insT	TP53_ENST00000445888.2_In_Frame_Ins_p.253_254insT|TP53_ENST00000359597.4_In_Frame_Ins_p.253_254insT|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_In_Frame_Ins_p.253_254insT|TP53_ENST00000413465.2_In_Frame_Ins_p.253_254insT|TP53_ENST00000455263.2_In_Frame_Ins_p.253_254insT	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	253	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I254V(7)|p.I254F(7)|p.I254S(6)|p.L252_I254delLTI(4)|p.I254fs*10(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.T253fs*91(2)|p.T253_I255del(2)|p.I254del(2)|p.I254fs*91(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGTGTGATGATGGTGAGGATG	0.584		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	56	Substitution - Missense(29)|Deletion - In frame(10)|Whole gene deletion(8)|Insertion - Frameshift(4)|Deletion - Frameshift(4)|Unknown(1)	haematopoietic_and_lymphoid_tissue(12)|large_intestine(9)|lung(7)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|oesophagus(3)|breast(3)|ovary(2)|endometrium(1)|skin(1)|prostate(1)																																								SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.758_760dupCCA	17.37:g.7577521_7577523dupTGG	ENSP00000269305:p.Thr253_Thr253dup		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.254in_frame_insT	ENST00000269305.4	37	c.761_760	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.584	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	161	0	-	NM_000546		7577521	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_ins	32.54	141	68	INS	1.000:1.000	TGG	TGG	7577521	-	TGG	7577520	7	5	59	1	0	1	1	0	0	0	0	0	16429	333	12	0	529	0	TP53	17	7577520	In_Frame_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	3664588	7577520	73617690	365	17073											
TP53	7157	genome.wustl.edu	37	chr17	7578257	7578257	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacacgcaaatttccttCcactcggataagatgctgag	11	10	7	13	2	0	2	0	1	0	1	4	3	3	3	3	1	1	2	3	1	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:7578257C>A	ENST00000269305.4	-	6	781	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E198*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E198*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E198*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E198*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E198*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	198	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E198*(27)|p.0?(8)|p.E198K(5)|p.?(5)|p.P191_E198>Q(3)|p.E105*(3)|p.E66*(3)|p.E198fs*11(2)|p.E198Q(2)|p.E198fs*7(1)|p.E198fs*49(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAATTTCCTTCCACTCGGATA	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	64	Substitution - Nonsense(33)|Whole gene deletion(8)|Substitution - Missense(7)|Complex - deletion inframe(5)|Unknown(5)|Insertion - Frameshift(2)|Deletion - Frameshift(2)|Deletion - In frame(1)|Complex - frameshift(1)	urinary_tract(9)|breast(7)|ovary(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|lung(5)|prostate(5)|bone(4)|central_nervous_system(3)|oesophagus(3)|skin(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(2)|stomach(1)|soft_tissue(1)											112	100	104					17																	7578257		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.592G>T	17.37:g.7578257C>A	ENSP00000269305:p.Glu198*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E198*	ENST00000269305.4	37	c.592	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950903	0.53186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.9371	16.7921	0.85592	0.0:1.0:0.0:0.0	.	.	.	.	X	198;198;198;198;198;198;187;105;66;105;66	.	ENSP00000269305:E198X	E	-	1	0	TP53	7518982	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	320	0	C	NM_000546		7578257	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	35.20	278	151	SNP	1.000	A	A	7578257	C	A	7578257	4	1	59	1	0	0	0	0	0	1	0	0	16429	864	30	3	702	3	TP53	17	7578257	Nonsense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	737	7578257	73616953	366	17074											
RAI1	10743	genome.wustl.edu	37	chr17	17700183	17700183	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctcaagctcgcctctcgGgcagccttccagggggccat	5	8	12	16	2	2	0	1	0	1	0	5	0	3	0	5	3	3	2	5	3	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:17700183G>T	ENST00000353383.1	+	3	4390	c.3921G>T	c.(3919-3921)cgG>cgT	p.R1307R	RAI1_ENST00000261641.6_Silent_p.R1307R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1307					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCGCCTCTCGGGCAGCCTTCC	0.662																																																	0													48	59	56					17																	17700183		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3921G>T	17.37:g.17700183G>T			Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	smart_Znf_PHD	p.R1307	ENST00000353383.1	37	c.3921	CCDS11188.1	17																																																																																			RAI1	-	NULL	ENSG00000108557		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1		0	11	0	G	NM_030665		17700183	1			no_errors	ENST00000353383	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.000	T	T	17700183	G	T	17700183	2	4	59	1	0	0	0	0	0	0	0	1	13052	1219	43	3		3	RAI1	17	17700183	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	10121926	17700183	63495027	367	17075											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319673	21319673	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaagaaccagtacaagaTtgactactcgcacttccaca	15	7	8	11	1	0	4	0	1	0	3	2	5	1	4	2	1	3	2	2	1	5	4	rs373244146		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:21319673T>G	ENST00000583088.1	+	3	1914	c.1019T>G	c.(1018-1020)aTt>aGt	p.I340S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.I340S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	340					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAGTACAAGATTGACTACTCG	0.587										Prostate(3;0.18)																																							0													159	158	158					17																	21319673		2203	4300	6503	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1019T>G	17.37:g.21319673T>G	ENSP00000463778:p.Ile340Ser		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.I340S	ENST00000583088.1	37	c.1019	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078933	0.76528	.	.	ENSG00000184185	ENST00000331718	D	0.93019	-3.15	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.060724	0.64402	D	0.000005	D	0.94162	0.8127	M	0.64170	1.965	0.51482	D	0.999927	P	0.39131	0.661	P	0.46975	0.533	D	0.94581	0.7779	10	0.87932	D	0	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	340	Q14500	IRK12_HUMAN	S	340	ENSP00000328150:I340S	ENSP00000328150:I340S	I	+	2	0	KCNJ12	21260266	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	7.905000	0.87416	2.206000	0.71126	0.533000	0.62120	ATT	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	ENSG00000184185		0.587	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	66	0	T	NM_021012		21319673	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	8.64	74	7	SNP	1.000	G	G	21319673	T	G	21319673	3	3	59	1	0	0	0	0	1	0	0	0	8073	1493	52	4	1021	4	KCNJ12	17	21319673	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	3619490	21319673	59875537	368	17076											
NOS2	4843	genome.wustl.edu	37	chr17	26114756	26114756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatagcttgaggtagaaGctcatctggaggggtaggct	9	11	15	6	1	2	2	1	1	1	1	3	4	2	3	0	5	2	5	0	5	4	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:26114756G>T	ENST00000313735.6	-	5	648	c.415C>A	c.(415-417)Ctt>Att	p.L139I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	139					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.L139I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	TGAGGTAGAAGCTCATCTGGA	0.517																																																	1	Substitution - Missense(1)	lung(1)											156	160	159					17																	26114756		2203	4300	6503	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"nitric oxide synthase 2A (inducible, hepatocytes)"	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.415C>A	17.37:g.26114756G>T	ENSP00000327251:p.Leu139Ile		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.L139I	ENST00000313735.6	37	c.415	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191123	0.78902	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.27890	1.64	5.64	5.64	0.86602	Nitric oxide synthase, oxygenase domain (3);	0.084150	0.51477	D	0.000097	T	0.40297	0.1111	L	0.46567	1.45	0.47214	D	0.999353	B;B	0.30439	0.279;0.113	B;B	0.42653	0.394;0.316	T	0.12016	-1.0564	10	0.35671	T	0.21	.	18.6964	0.91603	0.0:0.0:1.0:0.0	.	139;139	F8WEM3;P35228	.;NOS2_HUMAN	I	139	ENSP00000327251:L139I	ENSP00000305638:L139I	L	-	1	0	NOS2	23138883	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.179000	0.58290	2.676000	0.91093	0.557000	0.71058	CTT	NOS2	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000007171		0.517	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1		0	37	0	G	NM_000625		26114756	-1			no_errors	ENST00000313735	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	26114756	G	T	26114756	3	4	59	1	0	0	0	0	1	0	0	0	10582	971	34	3	3138	3	NOS2	17	26114756	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	4795083	26114756	55080454	369	17077											
EFCAB5	374786	genome.wustl.edu	37	chr17	28295948	28295948	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaactgaaatcaaagccAgagcacacatggaagaaaaa	21	4	8	8	0	1	4	1	2	0	2	1	5	1	5	1	1	3	1	1	1	6	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:28295948A>G	ENST00000394835.3	+	4	522	c.330A>G	c.(328-330)ccA>ccG	p.P110P	EFCAB5_ENST00000378738.3_Silent_p.P110P|EFCAB5_ENST00000534836.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.P110P|EFCAB5_ENST00000536908.2_Silent_p.P54P|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000394832.2_Silent_p.P110P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	110							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AATCAAAGCCAGAGCACACAT	0.358																																																	0													28	25	26					17																	28295948		1829	4092	5921	SO:0001819	synonymous_variant	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.330A>G	17.37:g.28295948A>G			B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	pfscan_EF_hand_dom	p.P110	ENST00000394835.3	37	c.330	CCDS11254.2	17																																																																																			EFCAB5	-	NULL	ENSG00000176927		0.358	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	-	0	14	0	A	NM_198529		28295948	1	tier1	-	no_errors	ENST00000394835	ensembl	human	known	74_37	silent	63.64	4	7	SNP	0.000	G	G	28295948	A	G	28295948	2	3	59	1	0	0	0	0	0	0	0	1	4952	175	7	4		4	EFCAB5	17	28295948	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	2181192	28295948	52899262	370	17078											
NF1	4763	genome.wustl.edu	37	chr17	29652954	29652954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttacccataccgggcctaGcaatcgctttaaaacagact	12	9	6	14	2	0	1	0	0	0	1	1	1	0	1	4	1	4	2	4	1	6	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:29652954G>A	ENST00000358273.4	+	37	5335	c.4952G>A	c.(4951-4953)aGc>aAc	p.S1651N	NF1_ENST00000356175.3_Missense_Mutation_p.S1630N|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1651	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCGGGCCTAGCAATCGCTTT	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											151	140	144					17																	29652954		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4952G>A	17.37:g.29652954G>A	ENSP00000351015:p.Ser1651Asn		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.S1651N	ENST00000358273.4	37	c.4952	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.256029	0.95336	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.62639	0.01;0.01;0.01	5.84	5.84	0.93424	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	L	0.29908	0.895	0.80722	D	1	B;P;B	0.48589	0.064;0.912;0.016	B;P;B	0.54210	0.036;0.745;0.017	T	0.57075	-0.7873	10	0.22706	T	0.39	.	19.1261	0.93384	0.0:0.0:1.0:0.0	.	680;1630;1651	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	N	1651;1630;1296	ENSP00000351015:S1651N;ENSP00000348498:S1630N;ENSP00000389907:S1296N	ENSP00000348498:S1630N	S	+	2	0	NF1	26677080	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.434000	0.97515	2.779000	0.95612	0.655000	0.94253	AGC	NF1	-	superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000196712		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2		0	26	0	G	NM_000267		29652954	1			no_errors	ENST00000358273	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	29652954	G	A	29652954	3	1	59	1	0	0	0	0	1	0	0	0	10395	971	34	3	5159	3	NF1	17	29652954	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1357006	29652954	51542256	371	17079											
CACNB1	782	genome.wustl.edu	37	chr17	37342801	37342801	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccacatctcccagactGgaactggagttatcgcctga	10	9	9	13	1	2	2	1	1	1	1	4	4	2	4	3	2	1	1	3	2	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:37342801G>T	ENST00000394303.3	-	6	783	c.576C>A	c.(574-576)tcC>tcA	p.S192S	CACNB1_ENST00000394310.3_Silent_p.S192S|CACNB1_ENST00000344140.5_Silent_p.S192S|CACNB1_ENST00000582877.1_5'UTR	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	192					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCCAGACTGGAACTGGAGT	0.617																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													45	46	45					17																	37342801		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.576C>A	17.37:g.37342801G>T			A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.S192	ENST00000394303.3	37	c.576	CCDS42311.1	17																																																																																			CACNB1	-	superfamily_SH3_domain	ENSG00000067191		0.617	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	-	0	72	0	G			37342801	-1	tier1	-	no_errors	ENST00000394303	ensembl	human	known	74_37	silent	6.90	81	6	SNP	1.000	T	T	37342801	G	T	37342801	2	4	59	1	0	0	0	0	0	0	0	1	2559	1335	47	3		3	CACNB1	17	37342801	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7689847	37342801	43852409	372	17080											
STARD3	10948	genome.wustl.edu	37	chr17	37813294	37813294	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgtaagaacttggagcagGagatcatccagtacaacttt	13	10	9	9	1	1	2	1	0	0	2	3	4	3	3	2	2	4	3	2	2	4	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:37813294G>T	ENST00000336308.5	+	3	471	c.253G>T	c.(253-255)Gag>Tag	p.E85*	STARD3_ENST00000580611.1_Intron|STARD3_ENST00000544210.2_Nonsense_Mutation_p.E85*|STARD3_ENST00000394250.4_Nonsense_Mutation_p.E85*|STARD3_ENST00000578232.1_3'UTR	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	85	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTTGGAGCAGGAGATCATCCA	0.557																																																	0													141	125	131					17																	37813294		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"StAR-related lipid transfer (START) domain containing"	17579	protein-coding gene	gene with protein product		607048	"START domain containing 3"				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.253G>T	17.37:g.37813294G>T	ENSP00000337446:p.Glu85*		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Nonsense_Mutation	SNP	pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR	p.E85*	ENST00000336308.5	37	c.253	CCDS11341.1	17	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988337	0.74589	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	.	.	.	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.4129	0.83725	0.0:0.0:1.0:0.0	.	.	.	.	X	85	.	ENSP00000337446:E85X	E	+	1	0	STARD3	35066820	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.564000	0.90726	2.159000	0.67721	0.655000	0.94253	GAG	STARD3	-	pfam_MENTAL	ENSG00000131748		0.557	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	HGNC	protein_coding	OTTHUMT00000256933.1		0	42	0	G			37813294	1			no_errors	ENST00000336308	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	37813294	G	T	37813294	4	4	59	1	0	0	0	0	0	1	0	0	15304	1175	41	3	259	3	STARD3	17	37813294	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	470493	37813294	43381916	373	17081											
KRT32	3882	genome.wustl.edu	37	chr17	39616470	39616470	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtggtgcaggaaggagtGgagcatgggttacagggcag	10	6	20	5	0	0	0	0	0	0	0	0	3	0	3	0	7	3	4	0	7	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:39616470G>T	ENST00000225899.3	-	7	1342	c.1239C>A	c.(1237-1239)tcC>tcA	p.S413S		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	413	Tail.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				AGGAAGGAGTGGAGCATGGGT	0.622																																																	0													83	56	65					17																	39616470		2194	4296	6490	SO:0001819	synonymous_variant	0			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.1239C>A	17.37:g.39616470G>T				Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S413	ENST00000225899.3	37	c.1239	CCDS11393.1	17																																																																																			KRT32	-	NULL	ENSG00000108759		0.622	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	-	0	73	0	G	NM_002278		39616470	-1	tier1	-	no_errors	ENST00000225899	ensembl	human	known	74_37	silent	7.94	58	5	SNP	0.019	T	T	39616470	G	T	39616470	2	4	59	1	0	0	0	0	0	0	0	1	8495	1335	47	3		3	KRT32	17	39616470	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1803176	39616470	41578740	374	17082											
PTRF	284119	genome.wustl.edu	37	chr17	40574673	40574673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgactttaaagttgcggCgccgcagcagctcggcctcg	7	9	12	13	5	1	1	1	1	0	0	3	1	1	1	2	2	3	4	2	2	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:40574673C>T	ENST00000357037.5	-	1	862	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AAAGTTGCGGCGCCGCAGCAG	0.682																																																	0													25	20	22					17																	40574673		2201	4297	6498	SO:0001583	missense	0			AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.443G>A	17.37:g.40574673C>T	ENSP00000349541:p.Arg148His			Missense_Mutation	SNP	NULL	p.R148H	ENST00000357037.5	37	c.443	CCDS11425.1	17	.	.	.	.	.	.	.	.	.	.	C	37	5.986697	0.97173	.	.	ENSG00000177469	ENST00000357037;ENST00000357684	T	0.69685	-0.42	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.84664	0.0708	10	0.87932	D	0	-14.399	18.5736	0.91145	0.0:1.0:0.0:0.0	.	130;148	B4DNU9;Q6NZI2	.;PTRF_HUMAN	H	148;103	ENSP00000349541:R148H	ENSP00000349541:R148H	R	-	2	0	PTRF	37828199	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.713000	0.84693	2.373000	0.80994	0.561000	0.74099	CGC	PTRF	-	NULL	ENSG00000177469		0.682	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRF	HGNC	protein_coding	OTTHUMT00000449938.1	-	0	24	0	C	NM_012232		40574673	-1	tier1	-	no_errors	ENST00000357037	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T	T	40574673	C	T	40574673	3	4	59	1	0	0	0	0	1	0	0	0	12860	768	27	1	737	1	PTRF	17	40574673	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	958203	40574673	40620537	375	17083											
DHX8	1659	genome.wustl.edu	37	chr17	41576241	41576241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttttagatgaggaccttGagattgaattggttgaggaa	12	13	13	3	0	0	5	0	4	0	2	0	9	0	7	1	3	0	1	1	3	3	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:41576241G>A	ENST00000262415.3	+	10	1384	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	DHX8_ENST00000540306.1_Missense_Mutation_p.E438K	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	438					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGAGGACCTTGAGATTGAATT	0.393																																					NSCLC(56;1548 1661 49258 49987)												0													70	66	68					17																	41576241		2203	4300	6503	SO:0001583	missense	0			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"DEAH-boxes"	2749	protein-coding gene	gene with protein product		600396	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1312G>A	17.37:g.41576241G>A	ENSP00000262415:p.Glu438Lys			Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E438K	ENST00000262415.3	37	c.1312	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.148836	0.94603	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03386	3.95;3.96	5.19	5.19	0.71726	.	0.059306	0.64402	D	0.000003	T	0.26085	0.0636	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.75020	0.985;0.87	T	0.17806	-1.0357	10	0.72032	D	0.01	.	17.3272	0.87252	0.0:0.0:1.0:0.0	.	438;438	F5H658;Q14562	.;DHX8_HUMAN	K	438	ENSP00000437886:E438K;ENSP00000262415:E438K	ENSP00000262415:E438K	E	+	1	0	DHX8	38931767	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.450000	0.97607	2.421000	0.82119	0.561000	0.74099	GAG	DHX8	-	NULL	ENSG00000067596		0.393	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	-	0	31	0	G			41576241	1	tier1	-	no_errors	ENST00000262415	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	A	A	41576241	G	A	41576241	3	1	59	1	0	0	0	0	1	0	0	0	4529	1291	45	3	1350	3	DHX8	17	41576241	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1001568	41576241	39618969	376	17084											
FMNL1	752	genome.wustl.edu	37	chr17	43314658	43314658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccccagtctggcttcaGccttgtcatgaaccacccag	7	10	7	17	0	4	1	2	1	2	0	5	1	4	1	5	1	2	1	5	1	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:43314658G>T	ENST00000331495.3	+	8	1070	c.734G>T	c.(733-735)aGc>aTc	p.S245I	FMNL1_ENST00000328118.3_Missense_Mutation_p.S245I|CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000592006.1_3'UTR	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	245	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCTGGCTTCAGCCTTGTCATG	0.572																																					GBM(164;1247 1997 8702 11086 51972)												0													108	97	101					17																	43314658		2203	4300	6503	SO:0001583	missense	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.734G>T	17.37:g.43314658G>T	ENSP00000329219:p.Ser245Ile		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.S245I	ENST00000331495.3	37	c.734	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928499	0.52759	.	.	ENSG00000184922	ENST00000328118;ENST00000331495	D;D	0.87571	-2.27;-2.27	3.83	3.83	0.44106	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.153463	0.56097	D	0.000025	D	0.90577	0.7046	L	0.52573	1.65	0.47994	D	0.999568	D	0.71674	0.998	D	0.66351	0.943	D	0.91296	0.5063	10	0.59425	D	0.04	.	16.0229	0.80512	0.0:0.0:1.0:0.0	.	245	O95466	FMNL_HUMAN	I	245	ENSP00000327442:S245I;ENSP00000329219:S245I	ENSP00000327442:S245I	S	+	2	0	FMNL1	40670441	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.975000	0.63777	2.433000	0.82419	0.462000	0.41574	AGC	FMNL1	-	pfam_GTPase-bd,superfamily_ARM-type_fold	ENSG00000184922		0.572	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	-	0	34	0	G	NM_005892		43314658	1	tier1	-	no_errors	ENST00000328118	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T	T	43314658	G	T	43314658	3	4	59	1	0	0	0	0	1	0	0	0	5973	971	34	3	764	3	FMNL1	17	43314658	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1738417	43314658	37880552	377	17085											
PHOSPHO1	162466	genome.wustl.edu	37	chr17	47301623	47301623	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagactcagcacgacttcagCacctgttgcaggtggaggcg	9	7	13	12	2	2	1	2	0	0	1	2	3	2	2	1	3	3	4	1	3	0	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:47301623C>A	ENST00000310544.4	-	3	916	c.789G>T	c.(787-789)gtG>gtT	p.V263V	PHOSPHO1_ENST00000514112.1_Silent_p.V288V|PHOSPHO1_ENST00000413580.1_Silent_p.V288V			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	263					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	ACGACTTCAGCACCTGTTGCA	0.667																																																	0													9	10	10					17																	47301623		2168	4251	6419	SO:0001819	synonymous_variant	0			AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.789G>T	17.37:g.47301623C>A			E9PAM0|Q17RU6	Silent	SNP	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.V288	ENST00000310544.4	37	c.864	CCDS11547.1	17																																																																																			PHOSPHO1	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ	ENSG00000173868		0.667	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO1	HGNC	protein_coding	OTTHUMT00000364467.2	-	0	8	0	C			47301623	-1	tier1	-	no_errors	ENST00000413580	ensembl	human	known	74_37	silent	38.89	11	7	SNP	1.000	A	A	47301623	C	A	47301623	2	1	59	1	0	0	0	0	0	0	0	1	11895	697	25	3		3	PHOSPHO1	17	47301623	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	3986965	47301623	33893587	378	17086											
ACSF2	80221	genome.wustl.edu	37	chr17	48551099	48551099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatatgatcatccggggtGgtgagaacatctaccccgca	11	8	12	10	2	2	2	1	2	1	1	3	4	3	3	3	4	2	1	3	4	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:48551099G>T	ENST00000300441.4	+	13	1653	c.1549G>T	c.(1549-1551)Ggt>Tgt	p.G517C	ACSF2_ENST00000427954.2_Missense_Mutation_p.G542C|ACSF2_ENST00000504392.1_Missense_Mutation_p.G474C|ACSF2_ENST00000502667.1_Missense_Mutation_p.G504C|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Missense_Mutation_p.G357C	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	517					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)	p.G517S(1)		endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CATCCGGGGTGGTGAGAACAT	0.567																																																	1	Substitution - Missense(1)	endometrium(1)											120	110	113					17																	48551099		2203	4300	6503	SO:0001583	missense	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"Acyl-CoA synthetase family"	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1549G>T	17.37:g.48551099G>T	ENSP00000300441:p.Gly517Cys		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G517C	ENST00000300441.4	37	c.1549	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735665	0.89482	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64	5.1	5.1	0.69264	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.99391	4.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99843	1.1063	10	0.87932	D	0	-11.5077	18.1117	0.89538	0.0:0.0:1.0:0.0	.	504;542;474;517	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	C	517;357;474;542;504	ENSP00000300441:G517C;ENSP00000437987:G357C;ENSP00000425964:G474C;ENSP00000401831:G542C;ENSP00000421884:G504C	ENSP00000300441:G517C	G	+	1	0	ACSF2	45906098	1.000000	0.71417	0.747000	0.31113	0.964000	0.63967	6.394000	0.73223	2.368000	0.80403	0.491000	0.48974	GGT	ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.567	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3		0	25	0	G	NM_025149		48551099	1			no_errors	ENST00000300441	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	48551099	G	T	48551099	3	4	59	1	0	0	0	0	1	0	0	0	175	1348	47	3	1599	3	ACSF2	17	48551099	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1249476	48551099	32644111	379	17087											
ICAM2	3384	genome.wustl.edu	37	chr17	62082507	62082507	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgactcctgcttcccGgagcaggtgaagtggcattg	7	12	12	10	1	1	2	1	2	0	0	3	3	3	3	2	3	2	3	2	3	1	4	rs138843858		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:62082507G>T	ENST00000412356.1	-	4	642	c.288C>A	c.(286-288)tcC>tcA	p.S96S	ICAM2_ENST00000579687.1_Silent_p.S96S|ICAM2_ENST00000449662.2_Silent_p.S96S|ICAM2_ENST00000418105.1_Silent_p.S96S|ICAM2_ENST00000578892.1_Silent_p.S72S|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.S96S|ICAM2_ENST00000578379.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	96	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CCTGCTTCCCGGAGCAGGTGA	0.542																																																	0													114	81	93					17																	62082507		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.288C>A	17.37:g.62082507G>T			Q14600	Silent	SNP	pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM	p.S96	ENST00000412356.1	37	c.288	CCDS11657.1	17																																																																																			ICAM2	-	pfam_ICAM_N	ENSG00000108622		0.542	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM2	HGNC	protein_coding	OTTHUMT00000443687.1	-	0	54	0	G			62082507	-1	tier1	-	no_errors	ENST00000412356	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.000	T	T	62082507	G	T	62082507	2	4	59	1	0	0	0	0	0	0	0	1	7507	1103	39	2		2	ICAM2	17	62082507	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	13531408	62082507	19112703	380	17088											
TMEM104	54868	genome.wustl.edu	37	chr17	72781696	72781696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcattcgccactgccGggtggcttgtcagcctcgtc	5	9	12	15	3	1	0	1	0	0	0	4	0	1	0	4	3	2	2	4	3	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:72781696G>T	ENST00000335464.5	+	3	283	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W	TMEM104_ENST00000582773.1_Missense_Mutation_p.G41W|TMEM104_ENST00000582330.1_Missense_Mutation_p.G41W|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	41						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CGCCACTGCCGGGTGGCTTGT	0.617																																																	0													99	77	85					17																	72781696		2203	4300	6503	SO:0001583	missense	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.121G>T	17.37:g.72781696G>T	ENSP00000334849:p.Gly41Trp		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.G41W	ENST00000335464.5	37	c.121	CCDS32723.1	17	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624864	0.66901	.	.	ENSG00000109066	ENST00000335464	T	0.64260	-0.09	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86868	0.2034	10	0.87932	D	0	-25.6966	17.6953	0.88279	0.0:0.0:1.0:0.0	.	41;41	Q8NE00-2;Q8NE00	.;TM104_HUMAN	W	41	ENSP00000334849:G41W	ENSP00000334849:G41W	G	+	1	0	TMEM104	70293291	1.000000	0.71417	0.802000	0.32245	0.229000	0.25112	9.266000	0.95659	2.193000	0.70182	0.313000	0.20887	GGG	TMEM104	-	pfam_AA_transpt_TM	ENSG00000109066		0.617	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1		0	34	0	G	NM_017728		72781696	1			no_errors	ENST00000335464	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	72781696	G	T	72781696	3	4	59	1	0	0	0	0	1	0	0	0	16065	1116	39	2	127	2	TMEM104	17	72781696	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	10699189	72781696	8413514	381	17089											
ITGB4	3691	genome.wustl.edu	37	chr17	73736505	73736505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgaagcctgacactcGggagtgcgcccagctgcgcc	6	6	13	16	3	0	2	0	2	0	0	1	3	0	3	4	1	5	2	4	1	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:73736505G>A	ENST00000200181.3	+	21	2700	c.2513G>A	c.(2512-2514)cGg>cAg	p.R838Q	ITGB4_ENST00000449880.2_Missense_Mutation_p.R838Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R838Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.R838Q|ITGB4_ENST00000579662.1_Missense_Mutation_p.R838Q|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	838					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGACACTCGGGAGTGCGCC	0.657																																																	0													52	50	50					17																	73736505		2203	4300	6503	SO:0001583	missense	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"CD molecules", "Integrins", "Fibronectin type III domain containing"	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.2513G>A	17.37:g.73736505G>A	ENSP00000200181:p.Arg838Gln		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.R838Q	ENST00000200181.3	37	c.2513	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457608	0.26161	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.77358	-1.09;-1.02;-1.02	4.95	4.95	0.65309	.	0.243929	0.32372	N	0.006182	D	0.83161	0.5194	L	0.32530	0.975	0.48632	D	0.999682	D;P;D;B	0.89917	1.0;0.925;1.0;0.369	D;P;D;B	0.87578	0.998;0.517;0.951;0.042	D	0.84998	0.0898	10	0.59425	D	0.04	.	18.1801	0.89775	0.0:0.0:1.0:0.0	.	838;838;838;838	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	Q	838	ENSP00000200181:R838Q;ENSP00000344079:R838Q;ENSP00000400217:R838Q	ENSP00000200181:R838Q	R	+	2	0	ITGB4	71248100	0.962000	0.33011	0.899000	0.35326	0.064000	0.16182	3.017000	0.49615	2.293000	0.77203	0.448000	0.29417	CGG	ITGB4	-	pirsf_Integrin_bsu-4	ENSG00000132470		0.657	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	-	0	32	0	G			73736505	1	tier1	-	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	62.07	11	18	SNP	0.997	A	A	73736505	G	A	73736505	3	1	59	1	0	0	0	0	1	0	0	0	7924	1116	39	1	2591	1	ITGB4	17	73736505	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	954809	73736505	7458705	382	17090											
WBP2	23558	genome.wustl.edu	37	chr17	73843603	73843603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcggggccgctgaccGgaggttccatgggcccaggg	6	5	18	12	3	0	1	0	1	0	0	2	3	1	3	4	7	0	2	4	7	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr17:73843603G>A	ENST00000591399.1	-	7	1044	c.620C>T	c.(619-621)cCg>cTg	p.P207L	WBP2_ENST00000433525.2_Missense_Mutation_p.P162L|WBP2_ENST00000344296.4_Missense_Mutation_p.P185L|WBP2_ENST00000590450.1_5'Flank|UNC13D_ENST00000207549.4_5'Flank|WBP2_ENST00000590221.1_Missense_Mutation_p.P203L|WBP2_ENST00000254806.3_Missense_Mutation_p.P207L|WBP2_ENST00000585462.1_Missense_Mutation_p.P185L			Q969T9	WBP2_HUMAN	WW domain binding protein 2	207	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGCTGACCGGAGGTTCCAT	0.677																																																	0													18	22	20					17																	73843603		2200	4294	6494	SO:0001583	missense	0			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.620C>T	17.37:g.73843603G>A	ENSP00000467579:p.Pro207Leu		O95638	Missense_Mutation	SNP	pfam_WW-domain-binding,pfam_GRAM	p.P207L	ENST00000591399.1	37	c.620	CCDS11731.1	17	.	.	.	.	.	.	.	.	.	.	g	15.50	2.852523	0.51270	.	.	ENSG00000132471	ENST00000254806;ENST00000344296;ENST00000433525;ENST00000416574	T;T;D	0.84370	1.82;1.39;-1.84	3.92	3.92	0.45320	.	0.215756	0.49305	D	0.000147	D	0.87124	0.6099	N	0.25426	0.745	0.80722	D	1	D;B;B;B	0.89917	1.0;0.042;0.02;0.02	D;B;B;B	0.85130	0.997;0.02;0.005;0.005	D	0.87454	0.2403	10	0.41790	T	0.15	0.5214	16.1347	0.81475	0.0:0.0:1.0:0.0	.	176;162;207;207	B4DV07;B4DFG2;Q7Z511;Q969T9	.;.;.;WBP2_HUMAN	L	207;185;162;176	ENSP00000254806:P207L;ENSP00000341570:P185L;ENSP00000415251:P162L	ENSP00000254806:P207L	P	-	2	0	WBP2	71355198	1.000000	0.71417	0.870000	0.34147	0.972000	0.66771	5.923000	0.70045	2.027000	0.59764	0.556000	0.70494	CCG	WBP2	-	NULL	ENSG00000132471		0.677	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2	HGNC	protein_coding	OTTHUMT00000448862.1		0	21	0	G	NM_012478		73843603	-1			no_errors	ENST00000254806	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.989	A	A	73843603	G	A	73843603	3	1	59	1	0	0	0	0	1	0	0	0	17308	1116	39	1	177	1	WBP2	17	73843603	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	107098	73843603	7351607	383	17091											
EPB41L3	23136	genome.wustl.edu	37	chr18	5397308	5397308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatccccactcgcgtgcaCcacacgccgctcctccacca	8	5	6	22	4	0	0	0	0	0	0	4	0	3	0	7	0	2	3	7	0	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:5397308C>T	ENST00000341928.2	-	18	2930	c.2590G>A	c.(2590-2592)Gtg>Atg	p.V864M	EPB41L3_ENST00000342933.3_Missense_Mutation_p.V864M|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V161M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V169M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V695M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V642M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V642M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	864	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCGCGTGCACCACACGCCGC	0.612																																																	0													66	63	64					18																	5397308		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2590G>A	18.37:g.5397308C>T	ENSP00000343158:p.Val864Met		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V864M	ENST00000341928.2	37	c.2590	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506538	0.44558	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.73	4.87	0.63330	.	0.341929	0.39146	N	0.001454	T	0.57858	0.2082	M	0.62723	1.935	0.47308	D	0.999386	B;B;B;B;P;P;B;D	0.62365	0.031;0.011;0.089;0.068;0.857;0.724;0.126;0.991	B;B;B;B;P;P;B;P	0.53593	0.039;0.024;0.275;0.126;0.58;0.573;0.094;0.73	T	0.60010	-0.7346	10	0.45353	T	0.12	.	14.9586	0.71138	0.0:0.9314:0.0:0.0686	.	695;161;169;256;533;642;864;99	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	864;533;695;533;161;169;864;642	ENSP00000343158:V864M;ENSP00000441174:V695M;ENSP00000392195:V161M;ENSP00000442233:V169M;ENSP00000341138:V864M;ENSP00000382981:V642M	ENSP00000343158:V864M	V	-	1	0	EPB41L3	5387308	0.958000	0.32768	0.778000	0.31720	0.006000	0.05464	2.092000	0.41700	1.424000	0.47217	-0.216000	0.12614	GTG	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.612	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	14	0	C	NM_012307		5397308	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.988	T	T	5397308	C	T	5397308	3	4	59	1	0	0	0	0	1	0	0	0	5170	507	18	3	693	3	EPB41L3	18	5397308	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09		5397308	72679940	384	17092											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6898517	6898517	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagtcgacagagaccAacaggagccccaaacatgta	17	3	11	10	1	0	3	0	0	0	3	1	7	0	4	3	1	3	1	3	1	4	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:6898517A>G	ENST00000383472.4	+	16	2134				ARHGAP28_ENST00000400091.2_Missense_Mutation_p.N705D|ARHGAP28_ENST00000314319.3_Intron|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.N653D|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.N528D|ARHGAP28_ENST00000531294.1_Intron|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.N546D|ARHGAP28_ENST00000419673.2_Intron			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GACAGAGACCAACAGGAGCCC	0.433																																																	0													142	146	145					18																	6898517		2203	4300	6503	SO:0001627	intron_variant	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.2030+1892A>G	18.37:g.6898517A>G			A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.N705D	ENST00000383472.4	37	c.2113		18	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369655	0.42003	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T	0.58652	3.0;2.96;2.73;0.32	2.93	2.93	0.34026	.	0.000000	0.85682	N	0.000000	T	0.42404	0.1201	.	.	.	0.09310	N	1	B;B;B	0.26002	0.139;0.135;0.135	B;B;B	0.24848	0.025;0.04;0.056	T	0.36768	-0.9734	9	0.51188	T	0.08	.	7.6767	0.28490	1.0:0.0:0.0:0.0	.	537;546;653	E9PRP2;F6VKJ9;Q9P2N2-2	.;.;.	D	705;653;546;537;528	ENSP00000382963:N705D;ENSP00000262227:N653D;ENSP00000406907:N546D;ENSP00000372964:N528D	ENSP00000262227:N653D	N	+	1	0	ARHGAP28	6888517	0.001000	0.12720	0.009000	0.14445	0.014000	0.08584	0.986000	0.29590	1.601000	0.50113	0.454000	0.30748	AAC	ARHGAP28	-	NULL	ENSG00000088756		0.433	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	38	0	A	XM_371108		6898517	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.011	G	G	6898517	A	G	6898517	1	3	59	0	1	0	0	0	0	0	0	0	877	130	5	4		4	ARHGAP28	18	6898517	Intron	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	1501209	6898517	71178731	385	17093											
LAMA1	284217	genome.wustl.edu	37	chr18	6959467	6959467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacctcaatgttgcctcCgatcagcatgacggaaaaga	13	9	9	10	2	2	2	2	1	0	1	3	4	3	3	3	1	3	3	3	1	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:6959467C>T	ENST00000389658.3	-	54	7744	c.7651G>A	c.(7651-7653)Gga>Aga	p.G2551R	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2551	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATGTTGCCTCCGATCAGCATG	0.478																																																	0													94	77	83					18																	6959467		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7651G>A	18.37:g.6959467C>T	ENSP00000374309:p.Gly2551Arg			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G2551R	ENST00000389658.3	37	c.7651	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	6.490	0.458639	0.12342	.	.	ENSG00000101680	ENST00000389658;ENST00000344342	T	0.79653	-1.29	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.883820	0.10003	N	0.728169	T	0.55194	0.1905	N	0.02247	-0.625	0.24991	N	0.991536	P	0.38767	0.646	B	0.31495	0.131	T	0.40850	-0.9541	10	0.19147	T	0.46	.	10.3151	0.43732	0.0:0.8544:0.0:0.1456	.	2551	P25391	LAMA1_HUMAN	R	2551;4	ENSP00000374309:G2551R	ENSP00000341000:G4R	G	-	1	0	LAMA1	6949467	0.873000	0.30073	0.575000	0.28536	0.004000	0.04260	1.386000	0.34419	2.684000	0.91462	0.563000	0.77884	GGA	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	17	0	C	NM_005559		6959467	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.981	T	T	6959467	C	T	6959467	3	4	59	1	0	0	0	0	1	0	0	0	8633	661	23	1	1616	1	LAMA1	18	6959467	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	60950	6959467	71117781	386	17094											
ANKRD12	23253	genome.wustl.edu	37	chr18	9258860	9258860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacctcagtactatgaCgaatatgtaacatttaacgg	15	10	7	9	2	1	1	1	1	0	0	1	2	1	1	1	1	4	3	1	1	7	6	rs149491789	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:9258860C>T	ENST00000262126.4	+	9	5835	c.5595C>T	c.(5593-5595)gaC>gaT	p.D1865D	ANKRD12_ENST00000400020.3_Silent_p.D1842D|ANKRD12_ENST00000383440.2_Silent_p.D1842D|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1865						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTACTATGACGAATATGTAA	0.363																																																	0								C	,,	2,4404	4.2+/-10.8	0,2,2201	95	92	93		5526,5526,5595	4.2	1	18	dbSNP_134	93	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ANKRD12	NM_001083625.2,NM_001204056.1,NM_015208.4	,,	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	,,	1842/2040,1842/2040,1865/2063	9258860	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5595C>T	18.37:g.9258860C>T			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1865	ENST00000262126.4	37	c.5595	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.363	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	-	0	23	0	C	NM_015208		9258860	1	tier1	rs149491789	no_errors	ENST00000262126	ensembl	human	known	74_37	silent	66.67	5	10	SNP	1.000	T	T	9258860	C	T	9258860	2	4	59	1	0	0	0	0	0	0	0	1	640	535	19	1		1	ANKRD12	18	9258860	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2299393	9258860	68818388	387	17095											
TXNDC2	84203	genome.wustl.edu	37	chr18	9887085	9887085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagaagaagccatccaGcccaaagagggtgacatccc	13	5	9	14	0	1	4	1	1	0	3	4	4	4	4	5	1	2	0	5	1	3	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:9887085G>A	ENST00000306084.6	+	2	808	c.609G>A	c.(607-609)caG>caA	p.Q203Q	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Silent_p.Q136Q	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	203	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGCCATCCAGCCCAAAGAGG	0.577																																																	0													152	154	153					18																	9887085		2203	4300	6503	SO:0001819	synonymous_variant	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.609G>A	18.37:g.9887085G>A			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.Q203	ENST00000306084.6	37	c.609	CCDS42414.1	18																																																																																			TXNDC2	-	pfam_Glutenin	ENSG00000168454		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	-	0	46	0	G			9887085	1	tier1	-	no_errors	ENST00000306084	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.000	A	A	9887085	G	A	9887085	2	1	59	1	0	0	0	0	0	0	0	1	16846	962	34	3		3	TXNDC2	18	9887085	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	628225	9887085	68190163	388	17096											
TXNDC2	84203	genome.wustl.edu	37	chr18	9888020	9888020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtgaggaggtggtgaGagagtgcgccatcatgtgtg	9	9	17	6	1	1	3	1	2	0	1	1	5	1	4	1	3	2	0	1	3	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:9888020G>T	ENST00000306084.6	+	2	1743	c.1544G>T	c.(1543-1545)aGa>aTa	p.R515I	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.R448I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	515	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GAGGTGGTGAGAGAGTGCGCC	0.498																																																	0													98	83	88					18																	9888020		2203	4300	6503	SO:0001583	missense	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1544G>T	18.37:g.9888020G>T	ENSP00000304908:p.Arg515Ile		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.R515I	ENST00000306084.6	37	c.1544	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	G	6.303	0.424083	0.11928	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.14391	2.51;2.51	4.05	-7.0	0.01599	Thioredoxin domain (1);Thioredoxin-like fold (3);	1.135910	0.06622	N	0.757516	T	0.05823	0.0152	N	0.17474	0.49	0.09310	N	1	B	0.30634	0.288	B	0.29267	0.1	T	0.34378	-0.9831	9	.	.	.	0.4968	3.4368	0.07449	0.2658:0.1327:0.471:0.1305	.	515	Q86VQ3	TXND2_HUMAN	I	313;448;515;500	ENSP00000350419:R448I;ENSP00000304908:R515I	.	R	+	2	0	TXNDC2	9878020	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.970000	0.03810	-1.499000	0.01821	-0.157000	0.13467	AGA	TXNDC2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000168454		0.498	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	-	0	56	0	G			9888020	1	tier1	-	no_errors	ENST00000306084	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.000	T	T	9888020	G	T	9888020	3	4	59	1	0	0	0	0	1	0	0	0	16846	942	33	3	1550	3	TXNDC2	18	9888020	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	935	9888020	68189228	389	17097											
RBBP8	5932	genome.wustl.edu	37	chr18	20596862	20596862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagaagaaaactgcttgGgcacacgtgtaaggaatgtg	14	7	15	5	1	0	2	0	0	0	2	0	5	0	4	0	3	2	3	0	3	5	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:20596862G>T	ENST00000399722.2	+	17	2780	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V	RBBP8_ENST00000399725.2_Intron|RBBP8_ENST00000360790.5_Missense_Mutation_p.G815V|RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000327155.5_Missense_Mutation_p.G810V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	810					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.G810V(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAACTGCTTGGGCACACGTGT	0.318								Homologous recombination																																									1	Substitution - Missense(1)	endometrium(1)											107	109	108					18																	20596862		2203	4300	6503	SO:0001583	missense	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2429G>T	18.37:g.20596862G>T	ENSP00000382628:p.Gly810Val		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.G810V	ENST00000399722.2	37	c.2429	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093801	0.76870	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.63096	-0.02;-0.02;-0.01	5.33	4.46	0.54185	.	0.110694	0.64402	D	0.000008	T	0.80783	0.4689	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84031	0.0359	10	0.87932	D	0	-7.3178	13.0342	0.58860	0.0777:0.0:0.9223:0.0	.	815;810	E7ETY1;Q99708	.;COM1_HUMAN	V	810;810;815	ENSP00000323050:G810V;ENSP00000382628:G810V;ENSP00000354024:G815V	ENSP00000323050:G810V	G	+	2	0	RBBP8	18850860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	1.253000	0.44018	0.637000	0.83480	GGG	RBBP8	-	pfam_DNA-repair_Sae2/CtIP	ENSG00000101773		0.318	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1		0	19	0	G	NM_203291		20596862	1			no_errors	ENST00000327155	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	20596862	G	T	20596862	3	4	59	1	0	0	0	0	1	0	0	0	13150	1232	43	3	2491	3	RBBP8	18	20596862	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	10708842	20596862	57480386	390	17098											
DSG4	147409	genome.wustl.edu	37	chr18	28993361	28993361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctagtcctggtgtgcctGacatgagcaatagtagcacg	9	10	13	9	1	0	2	0	2	0	0	1	2	1	2	2	2	3	4	2	2	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:28993361G>T	ENST00000308128.4	+	16	3061	c.2926G>T	c.(2926-2928)Gac>Tac	p.D976Y	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.D995Y|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	976					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTGTGCCTGACATGAGCAA	0.433																																																	0													171	157	162					18																	28993361		2203	4300	6503	SO:0001583	missense	0			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"Cadherins / Major cadherins"	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2926G>T	18.37:g.28993361G>T	ENSP00000311859:p.Asp976Tyr		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.D995Y	ENST00000308128.4	37	c.2983	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628287	0.46944	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.60171	0.27;0.21	5.56	5.56	0.83823	.	0.218640	0.23191	N	0.050905	T	0.71178	0.3309	M	0.65498	2.005	0.27007	N	0.96477	D;P	0.55172	0.97;0.829	P;B	0.56823	0.807;0.332	T	0.67677	-0.5609	10	0.87932	D	0	.	17.3007	0.87182	0.0:0.0:1.0:0.0	.	995;976	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	Y	976;995	ENSP00000311859:D976Y;ENSP00000352785:D995Y	ENSP00000311859:D976Y	D	+	1	0	DSG4	27247359	0.234000	0.23783	0.168000	0.22838	0.954000	0.61252	2.884000	0.48562	2.603000	0.88011	0.591000	0.81541	GAC	DSG4	-	NULL	ENSG00000175065		0.433	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	-	0	46	0	G	NM_177986		28993361	1	tier1	-	no_errors	ENST00000359747	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.399	T	T	28993361	G	T	28993361	3	4	59	1	0	0	0	0	1	0	0	0	4793	1290	45	3	3109	3	DSG4	18	28993361	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	8396499	28993361	49083887	391	17099											
KIAA1012	22878	genome.wustl.edu	37	chr18	29487486	29487486	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttctttgcagtatgataGcaactgtaagccaaatcata	13	14	6	8	0	3	1	1	1	2	0	3	1	3	1	1	0	4	4	1	0	6	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:29487486G>T	ENST00000283351.4	-	9	1661	c.1326C>A	c.(1324-1326)tgC>tgA	p.C442*	TRAPPC8_ENST00000582539.1_Nonsense_Mutation_p.C388*|TRAPPC8_ENST00000582513.1_Nonsense_Mutation_p.C442*	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	442					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGTATGATAGCAACTGTAAG	0.373																																																	0													77	78	78					18																	29487486		2203	4300	6503	SO:0001587	stop_gained	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"Trafficking protein particle complex"	29169	protein-coding gene	gene with protein product	"general sporulation gene 1 homolog (S. cerevisiae)"	614136	"KIAA1012"	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1326C>A	18.37:g.29487486G>T	ENSP00000283351:p.Cys442*		A0JP15|B3KME5|Q9H0L2	Nonsense_Mutation	SNP	NULL	p.C442*	ENST00000283351.4	37	c.1326	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.537867	0.96460	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.36	-0.313	0.12754	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	10.4269	0.44385	0.445:0.0:0.555:0.0	.	.	.	.	X	442	.	ENSP00000283351:C442X	C	-	3	2	TRAPPC8	27741484	0.991000	0.36638	0.985000	0.45067	0.884000	0.51177	0.197000	0.17197	-0.405000	0.07599	-0.142000	0.14014	TGC	TRAPPC8	-	NULL	ENSG00000153339		0.373	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1		0	38	0	G	NM_014939		29487486	-1			no_errors	ENST00000283351	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	0.998	T	T	29487486	G	T	29487486	4	4	59	1	0	0	0	0	0	1	0	0	8231	963	34	3	3065	3	KIAA1012	18	29487486	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	494125	29487486	48589762	392	17100											
LIPG	9388	genome.wustl.edu	37	chr18	47107823	47107823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgagcatgagcgagccGtccacctctttgttgactct	8	12	10	11	2	2	3	0	3	2	0	3	4	3	3	3	0	3	2	3	0	1	2	rs138921240		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:47107823G>T	ENST00000261292.4	+	6	1110	c.832G>T	c.(832-834)Gtc>Ttc	p.V278F	LIPG_ENST00000427224.2_Missense_Mutation_p.V204F|LIPG_ENST00000577628.1_Missense_Mutation_p.V314F|LIPG_ENST00000580036.1_Missense_Mutation_p.V278F	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	278					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.V278I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TGAGCGAGCCGTCCACCTCTT	0.493																																					Pancreas(126;280 1778 12814 26243 34948)												1	Substitution - Missense(1)	prostate(1)											102	98	99					18																	47107823		2203	4300	6503	SO:0001583	missense	0			AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.832G>T	18.37:g.47107823G>T	ENSP00000261292:p.Val278Phe		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep	p.V278F	ENST00000261292.4	37	c.832	CCDS11938.1	18	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416684	0.62511	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.92149	-2.98;-2.98	5.79	3.08	0.35506	Lipase, N-terminal (1);	0.165697	0.52532	D	0.000063	D	0.94735	0.8301	M	0.70842	2.15	0.58432	D	0.999991	P;D;D	0.67145	0.951;0.994;0.996	P;D;D	0.72338	0.847;0.977;0.926	D	0.93795	0.7096	10	0.87932	D	0	-22.4129	11.1305	0.48343	0.1987:0.0:0.8013:0.0	.	204;278;278	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	F	278;204	ENSP00000261292:V278F;ENSP00000387978:V204F	ENSP00000261292:V278F	V	+	1	0	LIPG	45361821	1.000000	0.71417	0.008000	0.14137	0.614000	0.37383	3.599000	0.54045	0.390000	0.25115	-0.224000	0.12420	GTC	LIPG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	ENSG00000101670		0.493	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPG	HGNC	protein_coding	OTTHUMT00000447546.1		0	35	0	G	NM_006033		47107823	1			no_errors	ENST00000261292	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.924	T	T	47107823	G	T	47107823	3	4	59	1	0	0	0	0	1	0	0	0	8853	1145	40	2	854	2	LIPG	18	47107823	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	17620337	47107823	30969425	393	17101											
MBD1	4152	genome.wustl.edu	37	chr18	47799993	47799993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgcacaggactgcttgCgccttcccgtaaaaacacaa	12	7	7	15	2	0	0	0	0	0	0	1	1	1	1	3	1	4	3	3	1	4	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:47799993C>T	ENST00000591416.1	-	12	1818	c.1387G>A	c.(1387-1389)Gca>Aca	p.A463T	MBD1_ENST00000587605.1_Missense_Mutation_p.A407T|MBD1_ENST00000382948.5_Missense_Mutation_p.A463T|MBD1_ENST00000457839.2_Missense_Mutation_p.A488T|MBD1_ENST00000339998.6_Missense_Mutation_p.A463T|MBD1_ENST00000269471.5_Missense_Mutation_p.A440T|MBD1_ENST00000585595.1_Missense_Mutation_p.A488T|MBD1_ENST00000347968.3_Missense_Mutation_p.A407T|MBD1_ENST00000585672.1_Missense_Mutation_p.A413T|MBD1_ENST00000398488.1_Missense_Mutation_p.A407T|MBD1_ENST00000591535.1_Missense_Mutation_p.A440T|MBD1_ENST00000398495.2_Missense_Mutation_p.A432T|MBD1_ENST00000424334.2_Missense_Mutation_p.A514T|MBD1_ENST00000436910.1_Missense_Mutation_p.A440T|MBD1_ENST00000269468.5_Missense_Mutation_p.A463T|MBD1_ENST00000349085.2_Missense_Mutation_p.A407T|MBD1_ENST00000398493.1_Missense_Mutation_p.A407T|MBD1_ENST00000353909.3_Missense_Mutation_p.A414T|MBD1_ENST00000590208.1_Missense_Mutation_p.A463T|MBD1_ENST00000588937.1_Missense_Mutation_p.A440T			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	463					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGACTGCTTGCGCCTTCCCGT	0.632																																																	0													47	45	45					18																	47799993		2203	4300	6503	SO:0001583	missense	0			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1387G>A	18.37:g.47799993C>T	ENSP00000467017:p.Ala463Thr		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC	p.A514T	ENST00000591416.1	37	c.1540	CCDS11943.1	18	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190563	0.38707	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-3.7;-3.71;-3.84;-3.7;-3.74;-3.75;-3.76;-3.7;-3.69;-4.41;-3.69;-3.74;-3.84	4.44	3.56	0.40772	.	0.330287	0.26311	N	0.025105	D	0.94892	0.8349	N	0.11560	0.145	0.25189	N	0.990141	P;D;B;B;P;P;B;D;B;P;B;P	0.89917	0.705;1.0;0.236;0.107;0.521;0.805;0.276;1.0;0.107;0.591;0.107;0.591	B;D;B;B;B;B;B;D;B;B;B;B	0.79108	0.047;0.991;0.026;0.016;0.062;0.102;0.024;0.992;0.016;0.089;0.016;0.089	D	0.88208	0.2888	10	0.30854	T	0.27	-8.1563	7.6917	0.28571	0.0:0.8851:0.0:0.1149	.	407;514;440;463;463;440;414;407;463;407;488;407	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	T	463;414;407;463;407;440;440;514;463;463;488;407;407	ENSP00000372407:A463T;ENSP00000269469:A414T;ENSP00000342531:A407T;ENSP00000269468:A463T;ENSP00000285102:A407T;ENSP00000409561:A440T;ENSP00000269471:A440T;ENSP00000408846:A514T;ENSP00000339546:A463T;ENSP00000381508:A463T;ENSP00000405268:A488T;ENSP00000381506:A407T;ENSP00000381502:A407T	ENSP00000269468:A463T	A	-	1	0	MBD1	46053991	0.959000	0.32827	0.995000	0.50966	0.987000	0.75469	1.790000	0.38734	1.438000	0.47492	0.555000	0.69702	GCA	MBD1	-	NULL	ENSG00000141644		0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MBD1	HGNC	protein_coding	OTTHUMT00000255926.3	-	0	32	0	C	NM_015846		47799993	-1	tier1	-	no_errors	ENST00000424334	ensembl	human	known	74_37	missense	8.89	40	4	SNP	0.996	T	T	47799993	C	T	47799993	3	4	59	1	0	0	0	0	1	0	0	0	9380	768	27	1	644	1	MBD1	18	47799993	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	692170	47799993	30277255	394	17102											
ALPK2	115701	genome.wustl.edu	37	chr18	56203296	56203296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagttgtttttcctcctggtCttgactcacattgttaacat	7	18	7	9	0	2	1	1	1	1	0	4	2	4	1	2	1	1	3	2	1	1	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:56203296C>G	ENST00000361673.3	-	5	4336	c.4123G>C	c.(4123-4125)Gac>Cac	p.D1375H	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1375						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCCTCCTGGTCTTGACTCACA	0.433																																																	0													103	102	103					18																	56203296		2203	4300	6503	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4123G>C	18.37:g.56203296C>G	ENSP00000354991:p.Asp1375His		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.D1375H	ENST00000361673.3	37	c.4123	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	c	11.14	1.549679	0.27652	.	.	ENSG00000198796	ENST00000361673	T	0.44083	0.93	5.62	-2.01	0.07410	.	2.121730	0.01773	N	0.031291	T	0.31575	0.0801	N	0.22421	0.69	0.09310	N	1	P;P	0.43094	0.799;0.553	P;B	0.44946	0.465;0.103	T	0.19712	-1.0297	10	0.56958	D	0.05	-1.9872	1.8008	0.03071	0.1448:0.3933:0.145:0.3168	.	1370;1375	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	H	1375	ENSP00000354991:D1375H	ENSP00000354991:D1375H	D	-	1	0	ALPK2	54354276	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.136000	0.10405	-0.040000	0.13580	-0.258000	0.10820	GAC	ALPK2	-	NULL	ENSG00000198796		0.433	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0	18	0	C	NM_052947		56203296	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.000	G	G	56203296	C	G	56203296	3	3	59	1	0	0	0	0	1	0	0	0	545	913	32	5	2425	5	ALPK2	18	56203296	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	8403303	56203296	21873952	395	17103											
SEC11C	90701	genome.wustl.edu	37	chr18	56825870	56825871	+	Frame_Shift_Ins	INS	-	-	T																															gttttctttccagtatgctcINSttttggctgtaatgggtgca																								rs202018793		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:56825870_56825871insT	ENST00000587834.1	+	6	1004_1005	c.532_533insT	c.(532-534)cttfs	p.L178fs	SEC11C_ENST00000588875.1_Frame_Shift_Ins_p.F159fs	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	178					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				CCAGTATGCTCTTTTGGCTGTA	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AF212233	CCDS11970.1	18q21.32	2006-11-07	2006-11-07	2006-11-07	ENSG00000166562	ENSG00000166562			23400	protein-coding gene	gene with protein product			"SEC11-like 3 (S. cerevisiae)"	SEC11L3			Standard	NM_033280		Approved	SPC21, SPCS4C	uc002lht.3	Q9BY50	OTTHUMG00000132762	ENST00000587834.1:c.536dupT	18.37:g.56825874_56825874dupT	ENSP00000468633:p.Leu178fs		B2RAA3	Frame_Shift_Ins	INS	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B	p.L179fs	ENST00000587834.1	37	c.532_533	CCDS11970.1	18																																																																																			SEC11C	-	tigrfam_Peptidase_S26B	ENSG00000166562		0.371	SEC11C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC11C	HGNC	protein_coding	OTTHUMT00000256134.2		0	53	0	-	NM_033280		56825871	1	tier1		no_errors	ENST00000587834	ensembl	human	known	74_37	frame_shift_ins	34.92	41	22	INS	1.000:0.999	T	T	56825871	-	T	56825870	7	5	59	1	0	1	1	0	0	0	0	0	14024	913	32	0	554	0	SEC11C	18	56825870	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	622574	56825870	21251378	396	17104											
CDH20	28316	genome.wustl.edu	37	chr18	59206286	59206286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggttggaagtgttcctGtcacaatcaaagtcttagat	11	12	9	9	0	3	1	2	0	1	1	4	2	4	2	2	2	0	2	2	2	4	3	rs568329311		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:59206286G>T	ENST00000262717.4	+	9	1836	c.1438G>T	c.(1438-1440)Gtc>Ttc	p.V480F	CDH20_ENST00000536675.2_Missense_Mutation_p.V480F|CDH20_ENST00000538374.1_Missense_Mutation_p.V480F			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	480	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AAGTGTTCCTGTCACAATCAA	0.418																																																	0													174	160	165					18																	59206286		2203	4300	6503	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"Cadherins / Major cadherins"	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1438G>T	18.37:g.59206286G>T	ENSP00000262717:p.Val480Phe		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V480F	ENST00000262717.4	37	c.1438	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901222	0.92035	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.61510	0.1;0.1;0.1	6.04	6.04	0.98038	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79287	0.4420	M	0.86502	2.82	0.80722	D	1	D	0.57571	0.98	P	0.61070	0.883	T	0.81366	-0.0965	10	0.87932	D	0	.	20.5801	0.99389	0.0:0.0:1.0:0.0	.	480	Q9HBT6	CAD20_HUMAN	F	480	ENSP00000444767:V480F;ENSP00000442226:V480F;ENSP00000262717:V480F	ENSP00000262717:V480F	V	+	1	0	CDH20	57357266	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.359000	0.73060	2.873000	0.98535	0.643000	0.83706	GTC	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.418	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	-	0	53	0	G	NM_031891		59206286	1	tier1	-	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	59206286	G	T	59206286	3	4	59	1	0	0	0	0	1	0	0	0	3113	1377	48	3	1468	3	CDH20	18	59206286	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2380416	59206286	18870962	397	17105											
PHLPP1	23239	genome.wustl.edu	37	chr18	60527822	60527822	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagctgccagggggcttaAtgaactgcaaaggtaagcct	11	8	12	10	0	0	1	0	1	0	0	1	1	1	1	3	3	5	4	3	3	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:60527822A>C	ENST00000262719.5	+	4	2288	c.2054A>C	c.(2053-2055)aAt>aCt	p.N685T	PHLPP1_ENST00000400316.4_Missense_Mutation_p.N173T			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	685					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						AGGGGGCTTAATGAACTGCAA	0.458																																																	0													32	30	31					18																	60527822		1866	4099	5965	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2054A>C	18.37:g.60527822A>C	ENSP00000262719:p.Asn685Thr		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.N685T	ENST00000262719.5	37	c.2054	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066417	0.36470	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.24350	1.86;1.86	6.17	-6.3	0.02007	.	.	.	.	.	T	0.13286	0.0322	N	0.10707	0.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23332	-1.0191	9	0.22109	T	0.4	-0.0311	19.3475	0.94370	0.3382:0.0:0.6618:0.0	.	685	O60346	PHLP1_HUMAN	T	173;685	ENSP00000383170:N173T;ENSP00000262719:N685T	ENSP00000262719:N685T	N	+	2	0	PHLPP1	58678802	0.000000	0.05858	0.022000	0.16811	0.983000	0.72400	-0.388000	0.07352	-1.121000	0.02949	0.533000	0.62120	AAT	PHLPP1	-	NULL	ENSG00000081913		0.458	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2		0	21	0	A	NM_194449		60527822	1			no_errors	ENST00000262719	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.001	C	C	60527822	A	C	60527822	3	2	59	1	0	0	0	0	1	0	0	0	11893	101	4	4	2068	4	PHLPP1	18	60527822	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	1321536	60527822	17549426	398	17106											
VPS4B	9525	genome.wustl.edu	37	chr18	61064444	61064444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtttaaacattgctgctcgGgcatggggttccggcaaggg	8	10	15	8	2	0	0	0	0	0	0	2	0	1	0	1	5	3	6	1	5	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr18:61064444G>A	ENST00000238497.5	-	9	1118	c.915C>T	c.(913-915)gcC>gcT	p.A305A	VPS4B_ENST00000591383.1_5'Flank	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	305					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TTGCTGCTCGGGCATGGGGTT	0.403																																																	0													61	62	62					18																	61064444		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.915C>T	18.37:g.61064444G>A			Q69HW4|Q9GZS7	Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.A305	ENST00000238497.5	37	c.915	CCDS11983.1	18																																																																																			VPS4B	-	superfamily_P-loop_NTPase	ENSG00000119541		0.403	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	-	0	27	0	G	NM_004869		61064444	-1	tier1	-	no_errors	ENST00000238497	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.901	A	A	61064444	G	A	61064444	2	1	59	1	0	0	0	0	0	0	0	1	17262	1219	43	3		3	VPS4B	18	61064444	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	536622	61064444	17012804	399	17107											
JSRP1	126306	genome.wustl.edu	37	chr19	2255274	2255274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcagctgcccaggcCgccatccagctcctcccagg	5	5	12	19	1	0	0	0	0	0	0	3	0	3	0	7	4	3	3	7	4	0	0	rs150323105		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:2255274C>T	ENST00000300961.6	-	2	104	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	JSRP1_ENST00000586471.2_Missense_Mutation_p.G14S	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	14	Mediates interaction with CACNA1S. {ECO:0000250}.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCCAGGCCGCCATCCAGC	0.672													C|||	1	0.000199681	0	0	5008	,	,		14833	0.001		0	False		,,,				2504	0																0								C	SER/GLY	0,4400		0,0,2200	29	35	33		40	4	0.9	19	dbSNP_134	33	1,8595	1.2+/-3.3	0,1,4297	no	missense	JSRP1	NM_144616.3	56	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	14/332	2255274	1,12995	2200	4298	6498	SO:0001583	missense	0			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.40G>A	19.37:g.2255274C>T	ENSP00000300961:p.Gly14Ser			Missense_Mutation	SNP	NULL	p.G14S	ENST00000300961.6	37	c.40	CCDS12086.1	19	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333667	0.60853	0.0	1.16E-4	ENSG00000167476	ENST00000300961	T	0.43688	0.94	4.0	4.0	0.46444	.	0.000000	0.36002	N	0.002842	T	0.50616	0.1626	L	0.32530	0.975	0.28752	N	0.901388	D	0.89917	1.0	D	0.91635	0.999	T	0.41840	-0.9486	10	0.51188	T	0.08	-8.3628	11.7902	0.52065	0.0:1.0:0.0:0.0	.	14	Q96MG2	JSPR1_HUMAN	S	14	ENSP00000300961:G14S	ENSP00000300961:G14S	G	-	1	0	JSRP1	2206274	0.848000	0.29623	0.926000	0.36857	0.301000	0.27625	1.584000	0.36589	2.218000	0.71995	0.561000	0.74099	GGC	JSRP1	-	NULL	ENSG00000167476		0.672	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JSRP1	HGNC	protein_coding	OTTHUMT00000451266.2	-	0	56	0	C	NM_144616		2255274	-1	tier1	rs150323105	no_errors	ENST00000300961	ensembl	human	known	74_37	missense	29.73	52	22	SNP	0.947	T	T	2255274	C	T	2255274	3	4	59	1	0	0	0	0	1	0	0	0	7993	652	23	1	979	1	JSRP1	19	2255274	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09		2255274	56873709	400	17108											
PIP5K1C	23396	genome.wustl.edu	37	chr19	3656454	3656454	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcggcctccttgtgcatGacggtcttgatgatgaactc	8	12	10	11	2	1	4	0	4	1	0	4	4	2	4	2	2	3	1	2	2	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:3656454G>T	ENST00000335312.3	-	6	658	c.570C>A	c.(568-570)gtC>gtA	p.V190V	PIP5K1C_ENST00000539785.1_Silent_p.V190V|PIP5K1C_ENST00000537021.1_Silent_p.V190V|PIP5K1C_ENST00000589578.1_Silent_p.V190V|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	190	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTTGTGCATGACGGTCTTGA	0.627																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													82	83	82					19																	3656454		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.570C>A	19.37:g.3656454G>T			B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.V190	ENST00000335312.3	37	c.570	CCDS32872.1	19																																																																																			PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000186111		0.627	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	-	0	58	0	G	NM_012398		3656454	-1	tier1	-	no_errors	ENST00000537021	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.996	T	T	3656454	G	T	3656454	2	4	59	1	0	0	0	0	0	0	0	1	11980	1277	45	3		3	PIP5K1C	19	3656454	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1401180	3656454	55472529	401	17109											
APBA3	9546	genome.wustl.edu	37	chr19	3752887	3752887	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggcaggcgcctgggctCgggtgcacgcccacctggct	4	6	17	14	3	0	0	0	0	0	0	1	0	0	0	3	6	1	4	3	6	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:3752887C>T	ENST00000316757.3	-	7	1313	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	AC005954.4_ENST00000586503.1_RNA|AC005954.3_ENST00000591962.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	371	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTGGGCTCGGGTGCACGC	0.667																																																	0													38	43	41					19																	3752887		2202	4299	6501	SO:0001819	synonymous_variant	0			AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1113G>A	19.37:g.3752887C>T			O60483|Q9UPZ2	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.P371	ENST00000316757.3	37	c.1113	CCDS12110.1	19																																																																																			APBA3	-	NULL	ENSG00000011132		0.667	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA3	HGNC	protein_coding	OTTHUMT00000453634.2	-	0	40	0	C			3752887	-1	tier1	-	no_errors	ENST00000316757	ensembl	human	known	74_37	silent	34.09	29	15	SNP	0.009	T	T	3752887	C	T	3752887	2	4	59	1	0	0	0	0	0	0	0	1	758	871	31	1		1	APBA3	19	3752887	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	96433	3752887	55376096	402	17110											
RANBP3	8498	genome.wustl.edu	37	chr19	5951456	5951456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcaggagcgggaggcGgaggagtgctggctgaggcg	6	5	23	7	3	1	1	1	1	0	0	1	5	1	5	0	8	2	3	0	8	0	1	rs564177004		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:5951456G>A	ENST00000340578.6	-	3	287	c.230C>T	c.(229-231)cCg>cTg	p.P77L	RANBP3_ENST00000439268.2_Missense_Mutation_p.P77L|RANBP3_ENST00000034275.8_Intron|RANBP3_ENST00000591124.1_Intron|RANBP3_ENST00000541471.1_Intron|RANBP3_ENST00000591092.1_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	77	Poly-Pro.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AGCGGGAGGCGGAGGAGTGCT	0.682													G|||	1	0.000199681	0	0	5008	,	,		15557	0.001		0	False		,,,				2504	0																0													14	19	17					19																	5951456		2076	4217	6293	SO:0001583	missense	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.230C>T	19.37:g.5951456G>A	ENSP00000341483:p.Pro77Leu		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.P77L	ENST00000340578.6	37	c.230	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896213	0.52121	.	.	ENSG00000031823	ENST00000340578;ENST00000439268	T;T	0.32515	1.45;1.45	4.36	4.36	0.52297	.	0.173614	0.27388	U	0.019591	T	0.17619	0.0423	N	0.19112	0.55	0.80722	D	1	P;P	0.48998	0.918;0.866	B;B	0.38428	0.273;0.141	T	0.03739	-1.1008	10	0.22706	T	0.39	-5.4658	12.3837	0.55322	0.0:0.0:1.0:0.0	.	77;77	Q9H6Z4-2;Q9H6Z4	.;RANB3_HUMAN	L	77	ENSP00000341483:P77L;ENSP00000404837:P77L	ENSP00000341483:P77L	P	-	2	0	RANBP3	5902456	0.997000	0.39634	0.883000	0.34634	0.997000	0.91878	1.336000	0.33850	1.943000	0.56356	0.561000	0.74099	CCG	RANBP3	-	NULL	ENSG00000031823		0.682	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	-	0	44	0	G	NM_007322		5951456	-1	tier1	-	no_errors	ENST00000340578	ensembl	human	known	74_37	missense	42.62	34	26	SNP	0.991	A	A	5951456	G	A	5951456	3	1	59	1	0	0	0	0	1	0	0	0	13074	1116	39	1	1533	1	RANBP3	19	5951456	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2198569	5951456	53177527	403	17111											
VAV1	7409	genome.wustl.edu	37	chr19	6853990	6853990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattttggcacagccaaaGcccgctatgacttctgcgcc	9	10	9	13	2	1	1	0	1	1	0	1	1	1	1	3	1	3	3	3	1	3	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:6853990G>T	ENST00000602142.1	+	26	2447	c.2365G>T	c.(2365-2367)Gcc>Tcc	p.A789S	VAV1_ENST00000304076.2_Missense_Mutation_p.A767S|VAV1_ENST00000599806.1_Missense_Mutation_p.A734S|VAV1_ENST00000596764.1_Missense_Mutation_p.A757S|VAV1_ENST00000539284.1_Missense_Mutation_p.A692S	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	789	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A789T(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACAGCCAAAGCCCGCTATGA	0.542																																																	1	Substitution - Missense(1)	lung(1)											104	96	98					19																	6853990		2203	4300	6503	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2365G>T	19.37:g.6853990G>T	ENSP00000472929:p.Ala789Ser		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.A789S	ENST00000602142.1	37	c.2365	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	28.0	4.879377	0.91740	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T	0.81330	-1.48	4.35	4.35	0.52113	Src homology-3 domain (5);	0.063689	0.64402	D	0.000009	D	0.90676	0.7075	M	0.90145	3.09	0.58432	D	0.999999	P;P;D;D	0.63880	0.64;0.794;0.993;0.975	P;P;D;D	0.69824	0.716;0.819;0.966;0.944	D	0.92606	0.6095	10	0.87932	D	0	.	14.4087	0.67101	0.0:0.0:1.0:0.0	.	692;789;734;789	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	S	789;692	ENSP00000443242:A692S	ENSP00000302269:A789S	A	+	1	0	VAV1	6804990	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.237000	0.89807	2.278000	0.76064	0.561000	0.74099	GCC	VAV1	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000141968		0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1		0	26	0	G			6853990	1			no_errors	ENST00000602142	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	6853990	G	T	6853990	3	4	59	1	0	0	0	0	1	0	0	0	17180	971	34	3	2467	3	VAV1	19	6853990	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	902534	6853990	52274993	404	17112											
EMR1	2015	genome.wustl.edu	37	chr19	6935064	6935064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctttccagtgttaatgccGaagtctcaacgctaaaagac	12	10	9	10	2	1	1	1	0	1	1	3	2	2	1	2	1	2	3	2	1	5	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:6935064G>A	ENST00000312053.4	+	18	2393	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	EMR1_ENST00000250572.8_Missense_Mutation_p.E721K|EMR1_ENST00000450315.3_Missense_Mutation_p.E609K|EMR1_ENST00000381404.4_Missense_Mutation_p.E767K|EMR1_ENST00000381407.5_Missense_Mutation_p.E645K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	786					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTTAATGCCGAAGTCTCAAC	0.483																																																	0													176	156	162					19																	6935064		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2356G>A	19.37:g.6935064G>A	ENSP00000311545:p.Glu786Lys		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.E786K	ENST00000312053.4	37	c.2356	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	g	16.44	3.123880	0.56613	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.09	4.05	0.47172	GPCR, family 2-like (1);	.	.	.	.	T	0.48277	0.1491	L	0.41027	1.25	0.33032	D	0.530296	D;D;D;D;D	0.69078	0.996;0.997;0.986;0.997;0.98	P;P;P;D;P	0.62955	0.878;0.878;0.63;0.909;0.663	T	0.58509	-0.7624	9	0.72032	D	0.01	.	6.8511	0.24014	0.1931:0.0:0.8069:0.0	.	609;645;721;767;786	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	K	721;786;767;721;645;609	ENSP00000311545:E786K;ENSP00000370811:E767K;ENSP00000250572:E721K;ENSP00000370814:E645K;ENSP00000405974:E609K	ENSP00000250572:E721K	E	+	1	0	EMR1	6886064	0.991000	0.36638	0.905000	0.35620	0.297000	0.27493	2.230000	0.42999	2.371000	0.80710	0.655000	0.94253	GAA	EMR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt	ENSG00000174837		0.483	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0	60	0	G			6935064	1	tier1	-	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.910	A	A	6935064	G	A	6935064	3	1	59	1	0	0	0	0	1	0	0	0	5120	1059	37	1	2426	1	EMR1	19	6935064	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	81074	6935064	52193919	405	17113											
FBN3	84467	genome.wustl.edu	37	chr19	8145962	8145962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacagtgttgacacagaGgaactgacagttgtgctgcc	10	8	12	11	0	0	3	0	2	0	1	0	4	0	4	2	1	3	3	2	1	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:8145962G>T	ENST00000600128.1	-	59	7792	c.7378C>A	c.(7378-7380)Ctc>Atc	p.L2460I	FBN3_ENST00000270509.2_Missense_Mutation_p.L2460I|FBN3_ENST00000601739.1_Missense_Mutation_p.L2460I			Q75N90	FBN3_HUMAN	fibrillin 3	2460	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TTGACACAGAGGAACTGACAG	0.657																																																	0													93	81	85					19																	8145962		2203	4300	6503	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7378C>A	19.37:g.8145962G>T	ENSP00000470498:p.Leu2460Ile		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.L2460I	ENST00000600128.1	37	c.7378	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337818	0.60963	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.91945	-2.94	4.12	0.329	0.15924	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.381336	0.22947	U	0.053717	T	0.79405	0.4440	N	0.03324	-0.35	0.35471	D	0.79734	P;B	0.39376	0.67;0.011	P;B	0.46796	0.527;0.021	T	0.72023	-0.4415	10	0.17832	T	0.49	.	0.7714	0.01024	0.2386:0.1845:0.3889:0.1881	.	2460;566	Q75N90;Q6ZNB8	FBN3_HUMAN;.	I	2460;566	ENSP00000270509:L2460I	ENSP00000270509:L2460I	L	-	1	0	FBN3	8051962	1.000000	0.71417	0.976000	0.42696	0.821000	0.46438	2.605000	0.46283	-0.121000	0.11787	0.297000	0.19635	CTC	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.657	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	75	0	G	NM_032447		8145962	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	8145962	G	T	8145962	3	4	59	1	0	0	0	0	1	0	0	0	5726	1000	35	3	1075	3	FBN3	19	8145962	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1210898	8145962	50983021	406	17114											
MUC16	94025	genome.wustl.edu	37	chr19	9019293	9019293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcggggcttgggagggAgaatggagtccctgaggttc	7	9	18	7	1	0	2	0	1	0	1	2	5	1	4	1	6	1	2	1	6	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:9019293A>G	ENST00000397910.4	-	23	37797	c.37594T>C	c.(37594-37596)Tcc>Ccc	p.S12532P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12534					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S12532T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGGGAGGGAGAATGGAGTC	0.458																																																	1	Substitution - Missense(1)	lung(1)											79	74	76					19																	9019293		1889	4116	6005	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37594T>C	19.37:g.9019293A>G	ENSP00000381008:p.Ser12532Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S12532P	ENST00000397910.4	37	c.37594	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	2.301	-0.360198	0.05103	.	.	ENSG00000181143	ENST00000397910	T	0.02916	4.11	1.42	-2.23	0.06930	.	.	.	.	.	T	0.02888	0.0086	L	0.52573	1.65	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.42361	-0.9456	8	0.87932	D	0	.	2.3782	0.04347	0.4086:0.2926:0.2988:0.0	.	12532	B5ME49	.	P	12532	ENSP00000381008:S12532P	ENSP00000381008:S12532P	S	-	1	0	MUC16	8880293	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.052000	0.14163	-0.694000	0.05113	-0.842000	0.03052	TCC	MUC16	-	NULL	ENSG00000181143		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	40	0	A	NM_024690		9019293	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	34.21	25	13	SNP	0.000	G	G	9019293	A	G	9019293	3	3	59	1	0	0	0	0	1	0	0	0	10011	304	11	4	6177	4	MUC16	19	9019293	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	873331	9019293	50109690	407	17115											
MUC16	94025	genome.wustl.edu	37	chr19	9074068	9074068	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggtatggttgtgaccaAgaaaggtgtcagggaagagg	13	7	18	3	0	1	3	1	1	0	2	1	5	1	5	1	6	0	2	1	6	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:9074068A>T	ENST00000397910.4	-	3	13581	c.13378T>A	c.(13378-13380)Ttg>Atg	p.L4460M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4462	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTGACCAAGAAAGGTGTC	0.512																																																	0													105	102	103					19																	9074068		2036	4193	6229	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13378T>A	19.37:g.9074068A>T	ENSP00000381008:p.Leu4460Met		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L4460M	ENST00000397910.4	37	c.13378	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	4.326	0.059838	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	1.7	-3.41	0.04839	.	.	.	.	.	T	0.17066	0.0410	L	0.29908	0.895	.	.	.	D	0.58268	0.982	P	0.50570	0.644	T	0.14755	-1.0461	8	0.87932	D	0	.	3.9418	0.09331	0.3111:0.2072:0.4817:0.0	.	4460	B5ME49	.	M	4460	ENSP00000381008:L4460M	ENSP00000381008:L4460M	L	-	1	2	MUC16	8935068	0.000000	0.05858	0.000000	0.03702	0.198000	0.23893	-1.174000	0.03105	-1.255000	0.02481	0.254000	0.18369	TTG	MUC16	-	NULL	ENSG00000181143		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	65	0	A	NM_024690		9074068	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	32.31	44	21	SNP	0.000	T	T	9074068	A	T	9074068	3	4	59	1	0	0	0	0	1	0	0	0	10011	69	3	5	30473	5	MUC16	19	9074068	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	54775	9074068	50054915	408	17116											
MUC16	94025	genome.wustl.edu	37	chr19	9089865	9089865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcactgctggagacacGgagactgggacaccgttcgt	8	9	13	11	3	1	2	1	0	0	2	2	5	1	3	1	3	2	3	1	3	0	2	rs375827972		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:9089865G>A	ENST00000397910.4	-	1	2153	c.1950C>T	c.(1948-1950)tcC>tcT	p.S650S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	650	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGAGACACGGAGACTGGGA	0.552													G|||	1	0.000199681	0	0	5008	,	,		20974	0		0	False		,,,				2504	0.001																0								G		1,4271		0,1,2135	127	129	128		1950	0.5	0	19		128	0,8514		0,0,4257	no	coding-synonymous	MUC16	NM_024690.2		0,1,6392	AA,AG,GG		0.0,0.0234,0.0078		650/14508	9089865	1,12785	2136	4257	6393	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1950C>T	19.37:g.9089865G>A			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S650	ENST00000397910.4	37	c.1950	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	37	0	G	NM_024690		9089865	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	37.25	32	19	SNP	0.000	A	A	9089865	G	A	9089865	2	1	59	1	0	0	0	0	0	0	0	1	10011	1103	39	1		1	MUC16	19	9089865	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	15797	9089865	50039118	409	17117											
CNN1	1264	genome.wustl.edu	37	chr19	11649767	11649767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgctcacttcaaccgaGgccctgcctacgggctgtca	6	9	9	17	2	4	0	3	0	1	0	4	1	4	0	4	2	4	2	4	2	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:11649767G>T	ENST00000252456.2	+	1	236	c.25G>T	c.(25-27)Ggc>Tgc	p.G9C	CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000544952.1_5'Flank|CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000588468.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	9					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CTTCAACCGAGGCCCTGCCTA	0.662																																																	0													29	28	28					19																	11649767		2203	4299	6502	SO:0001583	missense	0			U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.25G>T	19.37:g.11649767G>T	ENSP00000252456:p.Gly9Cys		B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.G9C	ENST00000252456.2	37	c.25	CCDS12263.1	19	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865995	0.91511	.	.	ENSG00000130176	ENST00000252456	T	0.61980	0.06	4.53	4.53	0.55603	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.81503	0.4836	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.86111	0.1562	10	0.87932	D	0	-31.4134	16.0271	0.80551	0.0:0.0:1.0:0.0	.	9	P51911	CNN1_HUMAN	C	9	ENSP00000252456:G9C	ENSP00000252456:G9C	G	+	1	0	CNN1	11510767	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	7.453000	0.80700	2.053000	0.61076	0.448000	0.29417	GGC	CNN1	-	superfamily_CH-domain,prints_SM22_calponin	ENSG00000130176		0.662	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN1	HGNC	protein_coding	OTTHUMT00000458854.1		0	47	0	G	NM_001299		11649767	1			no_errors	ENST00000252456	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	11649767	G	T	11649767	3	4	59	1	0	0	0	0	1	0	0	0	3616	1000	35	3	27	3	CNN1	19	11649767	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2559902	11649767	47479216	410	17118											
C19orf44	84167	genome.wustl.edu	37	chr19	16620485	16620485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcagtgccagctcggcttCtgccatccagcaggacagca	8	8	10	15	1	2	0	1	0	2	0	5	1	3	1	3	2	5	4	3	2	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:16620485C>T	ENST00000221671.3	+	5	1481	c.1325C>T	c.(1324-1326)tCt>tTt	p.S442F	C19orf44_ENST00000594035.1_Missense_Mutation_p.S442F|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	442										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCTCGGCTTCTGCCATCCAG	0.592																																																	0													66	64	65					19																	16620485		2203	4300	6503	SO:0001583	missense	0			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1325C>T	19.37:g.16620485C>T	ENSP00000221671:p.Ser442Phe		Q8N6Y7	Missense_Mutation	SNP	NULL	p.S442F	ENST00000221671.3	37	c.1325	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747707	0.30955	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.25	3.21	0.36854	.	1.265960	0.05486	N	0.555675	T	0.33089	0.0851	L	0.36672	1.1	0.09310	N	1	B;P;P	0.43094	0.372;0.514;0.799	B;B;B	0.41764	0.221;0.264;0.366	T	0.21930	-1.0231	9	0.39692	T	0.17	0.157	8.4389	0.32803	0.0:0.8893:0.0:0.1107	.	442;115;442	Q9H6X5;B4DN63;Q9H6X5-2	CS044_HUMAN;.;.	F	442	.	ENSP00000221671:S442F	S	+	2	0	C19orf44	16481485	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.046000	0.11983	0.933000	0.37291	0.555000	0.69702	TCT	C19orf44	-	NULL	ENSG00000105072		0.592	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	HGNC	protein_coding	OTTHUMT00000461218.1	-	0	11	0	C	NM_032207		16620485	1	tier1	-	no_errors	ENST00000221671	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.002	T	T	16620485	C	T	16620485	3	4	59	1	0	0	0	0	1	0	0	0	1934	913	32	3	1339	3	C19orf44	19	16620485	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4970718	16620485	42508498	411	17119											
ZNF430	80264	genome.wustl.edu	37	chr19	21239956	21239956	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacccttactacacataagaTaattcatactggagagaaac	18	9	5	9	0	1	2	1	0	0	2	1	4	1	3	1	1	5	0	1	1	7	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:21239956T>A	ENST00000261560.5	+	5	1023	c.842T>A	c.(841-843)aTa>aAa	p.I281K	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	281					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I281T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACACATAAGATAATTCATACT	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											56	61	59					19																	21239956		2203	4297	6500	SO:0001583	missense	0			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"Zinc fingers, C2H2-type", "-"	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.842T>A	19.37:g.21239956T>A	ENSP00000261560:p.Ile281Lys		Q86V70	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I281K	ENST00000261560.5	37	c.842	CCDS32978.1	19	.	.	.	.	.	.	.	.	.	.	.	0	-2.655858	0.00108	.	.	ENSG00000118620	ENST00000261560	T	0.12774	2.65	1.04	-2.09	0.07232	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02455	0.0075	N	0.00972	-1.085	0.39840	D	0.973092	P;B	0.39352	0.669;0.037	B;B	0.34931	0.192;0.06	T	0.48625	-0.9019	9	0.15499	T	0.54	.	0.7341	0.00962	0.1968:0.2047:0.3701:0.2284	.	280;281	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	K	281	ENSP00000261560:I281K	ENSP00000261560:I281K	I	+	2	0	ZNF430	21031796	0.000000	0.05858	0.015000	0.15790	0.014000	0.08584	0.263000	0.18478	-0.649000	0.05430	-0.714000	0.03626	ATA	ZNF430	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000118620		0.393	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	HGNC	protein_coding	OTTHUMT00000463539.1		0	18	0	T	NM_025189		21239956	1			no_errors	ENST00000261560	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.998	A	A	21239956	T	A	21239956	3	1	59	1	0	0	0	0	1	0	0	0	17952	1406	49	5	860	5	ZNF430	19	21239956	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	4619471	21239956	37889027	412	17120											
ZNF257	113835	genome.wustl.edu	37	chr19	22255698	22255698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagcagaatttatataggGatgtgatgttagagaactac	15	11	10	5	0	0	3	0	1	0	2	0	5	0	4	0	1	3	2	0	1	7	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:22255698G>T	ENST00000594947.1	+	2	235	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	ZNF257_ENST00000600162.1_Missense_Mutation_p.D31Y	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTTATATAGGGATGTGATGTT	0.403																																																	0													134	137	136					19																	22255698		2203	4297	6500	SO:0001583	missense	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.91G>T	19.37:g.22255698G>T	ENSP00000470209:p.Asp31Tyr		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D31Y	ENST00000594947.1	37	c.91	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906572	0.33628	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.9	0.9	0.19278	Krueppel-associated box (4);	.	.	.	.	T	0.70596	0.3242	H	0.95645	3.7	0.24949	N	0.99181	D	0.52996	0.957	D	0.63192	0.912	T	0.58825	-0.7568	8	0.87932	D	0	.	4.9573	0.14048	0.0:0.0:1.0:0.0	.	31	Q9Y2Q1	ZN257_HUMAN	Y	31	.	ENSP00000380312:D31Y	D	+	1	0	ZNF257	22047538	0.019000	0.18553	0.832000	0.32986	0.831000	0.47069	0.622000	0.24433	0.308000	0.22923	0.313000	0.20887	GAT	ZNF257	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197134		0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	87	0	G			22255698	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	missense	43.75	36	28	SNP	0.899	T	T	22255698	G	T	22255698	3	4	59	1	0	0	0	0	1	0	0	0	17848	1174	41	3	97	3	ZNF257	19	22255698	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1015742	22255698	36873285	413	17121											
ZNF254	9534	genome.wustl.edu	37	chr19	24309740	24309740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacccttactgagcataAgaaaattcatactagaaaga	18	9	5	9	0	2	4	2	1	0	3	2	4	2	4	1	0	4	1	1	0	8	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:24309740A>G	ENST00000357002.4	+	4	1053	c.938A>G	c.(937-939)aAg>aGg	p.K313R	ZNF254_ENST00000342944.6_Missense_Mutation_p.K228R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	313					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ACTGAGCATAAGAAAATTCAT	0.373																																																	0													43	44	44					19																	24309740		2202	4300	6502	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.938A>G	19.37:g.24309740A>G	ENSP00000349494:p.Lys313Arg		A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K313R	ENST00000357002.4	37	c.938	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336727	0.24253	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.49720	2.25;0.77	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22475	0.0542	N	0.02266	-0.62	0.19300	N	0.999977	B	0.27316	0.175	B	0.33339	0.162	T	0.26710	-1.0095	9	0.40728	T	0.16	.	5.9783	0.19393	1.0:0.0:0.0:0.0	.	313	O75437	ZN254_HUMAN	R	228;313	ENSP00000445527:K228R;ENSP00000349494:K313R	ENSP00000445527:K228R	K	+	2	0	ZNF254	24101580	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	0.017000	0.13399	0.446000	0.26666	0.254000	0.18369	AAG	ZNF254	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213096		0.373	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	-	0	25	0	A	NM_004876		24309740	1	tier1	-	no_errors	ENST00000357002	ensembl	human	known	74_37	missense	55.56	12	15	SNP	0.814	G	G	24309740	A	G	24309740	3	3	59	1	0	0	0	0	1	0	0	0	17846	72	3	4	952	4	ZNF254	19	24309740	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	2054042	24309740	34819243	414	17122											
TSHZ3	57616	genome.wustl.edu	37	chr19	31769056	31769056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtaggcggcatggatgctgGgatagcccccccagctagga	8	6	16	11	1	0	0	0	0	0	0	0	3	0	3	3	6	3	4	3	6	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:31769056G>T	ENST00000240587.4	-	2	1970	c.1643C>A	c.(1642-1644)cCc>cAc	p.P548H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	548					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGGATGCTGGGATAGCCCCC	0.562																																																	0													120	121	121					19																	31769056		2203	4300	6503	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1643C>A	19.37:g.31769056G>T	ENSP00000240587:p.Pro548His		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P548H	ENST00000240587.4	37	c.1643	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957087	0.73902	.	.	ENSG00000121297	ENST00000240587	T	0.36878	1.23	5.2	5.2	0.72013	.	0.051807	0.85682	D	0.000000	T	0.60907	0.2305	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64529	-0.6386	10	0.87932	D	0	-34.0375	18.749	0.91806	0.0:0.0:1.0:0.0	.	548	Q63HK5	TSH3_HUMAN	H	548	ENSP00000240587:P548H	ENSP00000240587:P548H	P	-	2	0	TSHZ3	36460896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.412000	0.81896	0.655000	0.94253	CCC	TSHZ3	-	NULL	ENSG00000121297		0.562	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	40	0	G	NM_020856		31769056	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T	T	31769056	G	T	31769056	3	4	59	1	0	0	0	0	1	0	0	0	16673	1232	43	3	1606	3	TSHZ3	19	31769056	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7459316	31769056	27359927	415	17123											
PEPD	5184	genome.wustl.edu	37	chr19	33882309	33882309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatggcgtccacgctgccGctcaggatgcccatgtgggc	6	7	13	15	3	1	0	1	0	0	0	2	1	2	1	4	3	2	2	4	3	0	0	rs577733369	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:33882309G>T	ENST00000244137.7	-	13	1077	c.1044C>A	c.(1042-1044)agC>agA	p.S348R	PEPD_ENST00000591968.1_5'UTR|PEPD_ENST00000397032.4_Missense_Mutation_p.S307R|PEPD_ENST00000436370.3_Missense_Mutation_p.S284R	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	348					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCACGCTGCCGCTCAGGATGC	0.667																																																	0													16	22	20					19																	33882309		2090	4199	6289	SO:0001583	missense	0			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1044C>A	19.37:g.33882309G>T	ENSP00000244137:p.Ser348Arg		A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.S348R	ENST00000244137.7	37	c.1044	CCDS42544.1	19	.	.	.	.	.	.	.	.	.	.	G	9.498	1.102497	0.20632	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.76448	-1.02;-1.02;-1.02	5.55	-5.68	0.02436	Peptidase M24, structural domain (3);	0.913139	0.09685	N	0.769168	T	0.43077	0.1231	N	0.02802	-0.49	0.58432	D	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.003	T	0.20773	-1.0265	10	0.19590	T	0.45	-8.56	2.2578	0.04060	0.5042:0.097:0.1924:0.2064	.	284;307;348	E9PCE8;A8MX47;P12955	.;.;PEPD_HUMAN	R	348;307;284	ENSP00000244137:S348R;ENSP00000380226:S307R;ENSP00000391890:S284R	ENSP00000244137:S348R	S	-	3	2	PEPD	38574149	0.000000	0.05858	0.338000	0.25549	0.983000	0.72400	-1.404000	0.02494	-0.472000	0.06881	0.561000	0.74099	AGC	PEPD	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000124299		0.667	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	HGNC	protein_coding	OTTHUMT00000451432.3	-	0	38	0	G	NM_000285		33882309	-1	tier1	-	no_errors	ENST00000244137	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T	T	33882309	G	T	33882309	3	4	59	1	0	0	0	0	1	0	0	0	11767	1078	38	2	449	2	PEPD	19	33882309	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2113253	33882309	25246674	416	17124											
FFAR3	2865	genome.wustl.edu	37	chr19	35850546	35850546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtgggctatatctgcGgtgaaagcccggcgtggagg	7	9	17	8	4	1	1	0	1	1	0	2	2	1	2	1	5	2	1	1	5	3	2	rs540255880	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:35850546G>A	ENST00000327809.4	+	2	955	c.754G>A	c.(754-756)Ggt>Agt	p.G252S	FFAR3_ENST00000594310.1_Missense_Mutation_p.G252S	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	252					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTATATCTGCGGTGAAAGCCC	0.607													G|||	2	0.000399361	8e-04	0	5008	,	,		32780	0.001		0	False		,,,				2504	0				Esophageal Squamous(185;1742 2042 21963 24215 27871)												0													281	203	230					19																	35850546		2201	4298	6499	SO:0001583	missense	0			AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"GPCR / Class A : Fatty acid receptors"	4499	protein-coding gene	gene with protein product		603821	"G protein-coupled receptor 41"	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.754G>A	19.37:g.35850546G>A	ENSP00000328230:p.Gly252Ser		B2RWM8|Q14CM7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph	p.G252S	ENST00000327809.4	37	c.754	CCDS12459.1	19	.	.	.	.	.	.	.	.	.	.	G	0.706	-0.788939	0.02884	.	.	ENSG00000185897	ENST00000327809	T	0.70869	-0.52	5.13	-1.86	0.07760	GPCR, rhodopsin-like superfamily (1);	0.664365	0.15132	U	0.278803	T	0.42607	0.1210	L	0.32530	0.975	0.09310	N	1	P	0.35242	0.492	B	0.26969	0.075	T	0.42749	-0.9433	10	0.06099	T	0.92	-5.2777	3.9057	0.09182	0.0781:0.2482:0.4202:0.2536	.	252	O14843	FFAR3_HUMAN	S	252	ENSP00000328230:G252S	ENSP00000328230:G252S	G	+	1	0	FFAR3	40542386	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.544000	0.02192	0.120000	0.18254	0.455000	0.32223	GGT	FFAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185897		0.607	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR3	HGNC	protein_coding	OTTHUMT00000418873.2	-	0	227	0	G	NM_005304		35850546	1	tier1	-	no_errors	ENST00000327809	ensembl	human	known	74_37	missense	26.45	202	73	SNP	0.000	A	A	35850546	G	A	35850546	3	1	59	1	0	0	0	0	1	0	0	0	5851	1116	39	1	756	1	FFAR3	19	35850546	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1968237	35850546	23278437	417	17125											
ZBTB32	27033	genome.wustl.edu	37	chr19	36207122	36207122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctcctgctcggtctcGgccctatgcgtgctctgtct	1	12	11	17	3	3	0	0	0	3	0	6	0	4	0	4	3	3	2	4	3	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:36207122G>T	ENST00000392197.2	+	6	1430	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|ZBTB32_ENST00000262630.3_Missense_Mutation_p.R371L|KMT2B_ENST00000420124.1_5'Flank			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	371					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTCGGTCTCGGCCCTATGCG	0.637																																																	0													29	29	29					19																	36207122		2203	4299	6502	SO:0001583	missense	0			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16763	protein-coding gene	gene with protein product	"repressor of GATA"	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.1112G>T	19.37:g.36207122G>T	ENSP00000376035:p.Arg371Leu		Q8WVP2	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R371L	ENST00000392197.2	37	c.1112	CCDS12471.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370892	0.82573	.	.	ENSG00000011590	ENST00000262630;ENST00000392197	T;T	0.34275	1.37;1.37	4.86	4.86	0.63082	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000490	T	0.47746	0.1462	L	0.32530	0.975	0.42374	D	0.992464	D	0.76494	0.999	D	0.72075	0.976	T	0.49234	-0.8961	10	0.87932	D	0	-20.9756	13.3569	0.60633	0.0:0.0:1.0:0.0	.	371	Q9Y2Y4	ZBT32_HUMAN	L	371	ENSP00000262630:R371L;ENSP00000376035:R371L	ENSP00000262630:R371L	R	+	2	0	ZBTB32	40898962	0.985000	0.35326	0.876000	0.34364	0.914000	0.54420	2.019000	0.41001	2.519000	0.84933	0.655000	0.94253	CGG	ZBTB32	-	NULL	ENSG00000011590		0.637	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB32	HGNC	protein_coding	OTTHUMT00000109491.3		0	22	0	G	NM_014383		36207122	1			no_errors	ENST00000262630	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.903	T	T	36207122	G	T	36207122	3	4	59	1	0	0	0	0	1	0	0	0	17583	1116	39	2	1126	2	ZBTB32	19	36207122	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	356576	36207122	22921861	418	17126											
LRFN1	57622	genome.wustl.edu	37	chr19	39799033	39799033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggcagggcgccggatccCcagcggtggtgaactgtaca	7	5	17	12	4	0	1	0	1	0	0	1	2	1	2	3	6	3	2	3	6	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:39799033C>T	ENST00000248668.4	-	2	1555	c.1556G>A	c.(1555-1557)gGg>gAg	p.G519E		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	519	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCCGGATCCCCAGCGGTGGT	0.682																																																	0													12	16	15					19																	39799033		2095	4209	6304	SO:0001583	missense	0			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1556G>A	19.37:g.39799033C>T	ENSP00000248668:p.Gly519Glu		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G519E	ENST00000248668.4	37	c.1556	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	C	0.361	-0.939603	0.02322	.	.	ENSG00000128011	ENST00000248668	T	0.60548	0.18	4.17	4.17	0.49024	Fibronectin, type III (1);	0.000000	0.39083	N	0.001475	T	0.24084	0.0583	N	0.02247	-0.625	0.09310	N	0.999999	B	0.15141	0.012	B	0.15870	0.014	T	0.27468	-1.0073	10	0.02654	T	1	.	7.7631	0.28963	0.0:0.8885:0.0:0.1115	.	519	Q9P244	LRFN1_HUMAN	E	519	ENSP00000248668:G519E	ENSP00000248668:G519E	G	-	2	0	LRFN1	44490873	0.000000	0.05858	0.670000	0.29842	0.734000	0.41952	0.163000	0.16520	2.176000	0.68965	0.462000	0.41574	GGG	LRFN1	-	superfamily_Fibronectin_type3	ENSG00000128011		0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	-	0	13	0	C	NM_020862		39799033	-1	tier1	-	no_errors	ENST00000248668	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.178	T	T	39799033	C	T	39799033	3	4	59	1	0	0	0	0	1	0	0	0	8972	623	22	3	763	3	LRFN1	19	39799033	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	3591911	39799033	19329950	419	17127											
FCGBP	8857	genome.wustl.edu	37	chr19	40364341	40364341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagccttcacggcaggcCgactcacagccctcgggtgc	8	5	11	17	3	2	0	2	0	0	0	3	1	2	0	3	3	3	1	3	3	0	1	rs143346927		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:40364341C>T	ENST00000221347.6	-	31	14308	c.14301G>A	c.(14299-14301)tcG>tcA	p.S4767S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4767	TIL 11.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGGCAGGCCGACTCACAGC	0.647																																																	0								C		1,4403		0,1,2201	54	50	52		14301	-10.3	0	19	dbSNP_134	52	0,8596		0,0,4298	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		4767/5406	40364341	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14301G>A	19.37:g.40364341C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.S4767	ENST00000221347.6	37	c.14301	CCDS12546.1	19																																																																																			FCGBP	-	pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	72	0	C	NM_003890		40364341	-1	tier1	rs143346927	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	34.85	43	23	SNP	0.000	T	T	40364341	C	T	40364341	2	4	59	1	0	0	0	0	0	0	0	1	5800	639	23	1		1	FCGBP	19	40364341	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	565308	40364341	18764642	420	17128											
EGLN2	112398	genome.wustl.edu	37	chr19	41306597	41306597	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagtggagagttacctGccctgtcccctgctcccctc	5	10	11	15	0	0	1	0	0	0	1	3	3	2	2	6	2	3	2	6	2	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:41306597G>T	ENST00000593726.1	+	1	1148	c.120G>T	c.(118-120)ctG>ctT	p.L40L	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.L40L|EGLN2_ENST00000406058.2_Silent_p.L40L|EGLN2_ENST00000594140.1_5'Flank|CTC-490E21.12_ENST00000601627.1_5'Flank			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	40					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	AGAGTTACCTGCCCTGTCCCC	0.652																																																	0													55	47	49					19																	41306597		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.120G>T	19.37:g.41306597G>T			A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.L40	ENST00000593726.1	37	c.120	CCDS12567.1	19																																																																																			EGLN2	-	NULL	ENSG00000269858		0.652	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EGLN2	HGNC	protein_coding	OTTHUMT00000463218.1	-	0	42	0	G			41306597	1	tier1	-	no_errors	ENST00000303961	ensembl	human	known	74_37	silent	10.20	44	5	SNP	1.000	T	T	41306597	G	T	41306597	2	4	59	1	0	0	0	0	0	0	0	1	4983	1306	46	3		3	EGLN2	19	41306597	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	942256	41306597	17822386	421	17129											
CYP2F1	1572	genome.wustl.edu	37	chr19	41631428	41631428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaccctccttaacaccGtccactacgaccccagccag	10	7	4	20	2	2	0	2	0	0	0	4	1	4	0	7	0	3	0	7	0	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:41631428G>A	ENST00000331105.2	+	9	1255	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	395					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTTAACACCGTCCACTACGA	0.557																																																	0													12	14	13					19																	41631428		2167	4243	6410	SO:0001583	missense	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1183G>A	19.37:g.41631428G>A	ENSP00000333534:p.Val395Ile		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.V395I	ENST00000331105.2	37	c.1183	CCDS12572.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	13.47|13.47	2.245606|2.245606	0.39697|0.39697	.|.	.|.	ENSG00000197446|ENSG00000197446	ENST00000439903|ENST00000331105	.|T	.|0.68025	.|-0.3	3.19|3.19	3.19|3.19	0.36642|0.36642	.|.	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.63815|0.63815	0.2543|0.2543	L|L	0.41356|0.41356	1.27|1.27	0.43734|0.43734	D|D	0.996226|0.996226	.|P	.|0.45126	.|0.851	.|P	.|0.48425	.|0.577	T|T	0.67597|0.67597	-0.5630|-0.5630	5|10	.|0.59425	.|D	.|0.04	.|.	12.0027|12.0027	0.53240|0.53240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|395	.|P24903	.|CP2F1_HUMAN	H|I	28|395	.|ENSP00000333534:V395I	.|ENSP00000333534:V395I	R|V	+|+	2|1	0|0	CYP2F1|CYP2F1	46323268|46323268	1.000000|1.000000	0.71417|0.71417	0.021000|0.021000	0.16686|0.16686	0.370000|0.370000	0.29829|0.29829	5.943000|5.943000	0.70211|0.70211	1.649000|1.649000	0.50652|0.50652	0.089000|0.089000	0.15464|0.15464	CGT|GTC	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B	ENSG00000197446		0.557	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	-	0	28	0	G			41631428	1	tier1	-	no_errors	ENST00000331105	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.986	A	A	41631428	G	A	41631428	3	1	59	1	0	0	0	0	1	0	0	0	4180	1145	40	1	1213	1	CYP2F1	19	41631428	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	324831	41631428	17497555	422	17130											
GRIK5	2901	genome.wustl.edu	37	chr19	42525545	42525545	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggaaaccacaggctgttGcccagcgtgtactggttctc	8	9	12	12	2	1	0	0	0	1	0	2	1	1	1	2	3	4	4	2	3	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:42525545G>T	ENST00000262895.3	-	14	1778	c.1779C>A	c.(1777-1779)ggC>ggA	p.G593G	GRIK5_ENST00000593562.1_Silent_p.G593G|GRIK5_ENST00000301218.4_Silent_p.G593G	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	593					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ACAGGCTGTTGCCCAGCGTGT	0.642																																																	0													32	30	31					19																	42525545		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1779C>A	19.37:g.42525545G>T			Q8WWG8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G593	ENST00000262895.3	37	c.1779	CCDS12595.1	19																																																																																			GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105737		0.642	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	-	0	35	0	G			42525545	-1	tier1	-	no_errors	ENST00000301218	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.998	T	T	42525545	G	T	42525545	2	4	59	1	0	0	0	0	0	0	0	1	6804	1306	46	3		3	GRIK5	19	42525545	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	894117	42525545	16603438	423	17131											
CBLC	23624	genome.wustl.edu	37	chr19	45296802	45296802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccgtgagtatctaccaGttccacggtcaggctactgc	8	9	12	12	2	2	1	1	1	1	0	3	2	3	1	3	3	3	3	3	3	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:45296802G>T	ENST00000270279.3	+	8	1272	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	CBLC_ENST00000341505.4_Missense_Mutation_p.Q357H	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	403	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GTATCTACCAGTTCCACGGTC	0.652			M		AML																																			Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													49	42	44					19																	45296802		2203	4300	6503	SO:0001583	missense	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"RING-type (C3HC4) zinc fingers"	15961	protein-coding gene	gene with protein product		608453	"Cas-Br-M (murine) ectropic retroviral transforming sequence c", "Cas-Br-M (murine) ecotropic retroviral transforming sequence c"			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1209G>T	19.37:g.45296802G>T	ENSP00000270279:p.Gln403His		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.Q403H	ENST00000270279.3	37	c.1209	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	13.00	2.107439	0.37145	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.94828	-3.53;-3.53	4.25	-8.5	0.00927	.	0.976842	0.08346	N	0.960014	D	0.85986	0.5825	L	0.34521	1.04	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.003	T	0.72107	-0.4390	10	0.72032	D	0.01	-6.2097	1.2085	0.01899	0.3818:0.2874:0.1376:0.1932	.	357;403	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	H	403;357	ENSP00000270279:Q403H;ENSP00000340250:Q357H	ENSP00000270279:Q403H	Q	+	3	2	CBLC	49988642	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.552000	0.02176	-1.731000	0.01360	-1.721000	0.00707	CAG	CBLC	-	NULL	ENSG00000142273		0.652	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	-	0	42	0	G	NM_012116		45296802	1	tier1	-	no_errors	ENST00000270279	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T	T	45296802	G	T	45296802	3	4	59	1	0	0	0	0	1	0	0	0	2709	1020	36	3	1239	3	CBLC	19	45296802	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2771257	45296802	13832181	424	17132											
GPR4	2828	genome.wustl.edu	37	chr19	46094360	46094360	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgaagccgcagtcccaGgggcggcccaggtagatggc	7	5	15	14	3	0	1	0	0	0	1	3	2	2	1	4	5	1	2	4	5	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:46094360G>T	ENST00000323040.4	-	2	1709	c.765C>A	c.(763-765)ccC>ccA	p.P255P	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	255				P -> L (in Ref. 5; BAF83387). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCAGTCCCAGGGGCGGCCCA	0.632																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												0													37	41	40					19																	46094360		2202	4300	6502	SO:0001819	synonymous_variant	0			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.765C>A	19.37:g.46094360G>T			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.P255	ENST00000323040.4	37	c.765	CCDS12669.1	19																																																																																			GPR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph	ENSG00000177464		0.632	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	-	0	28	0	G	NM_005282		46094360	-1	tier1	-	no_errors	ENST00000323040	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.994	T	T	46094360	G	T	46094360	2	4	59	1	0	0	0	0	0	0	0	1	6720	987	35	3		3	GPR4	19	46094360	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	797558	46094360	13034623	425	17133											
ZNF649	65251	genome.wustl.edu	37	chr19	52394846	52394846	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagctttcccacagtcAgtgcattcatgggctttctc	9	12	9	11	0	3	0	2	0	1	0	5	1	4	1	1	2	2	3	1	2	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:52394846A>G	ENST00000354957.3	-	5	827	c.543T>C	c.(541-543)acT>acC	p.T181T	ZNF649_ENST00000600738.1_Silent_p.T181T|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCCCACAGTCAGTGCATTCAT	0.438																																																	0													222	208	213					19																	52394846		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.543T>C	19.37:g.52394846A>G			A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T181	ENST00000354957.3	37	c.543	CCDS12843.1	19																																																																																			ZNF649	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198093		0.438	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	-	0	115	0	A	NM_023074		52394846	-1	tier1	-	no_errors	ENST00000354957	ensembl	human	known	74_37	silent	32.33	90	43	SNP	0.020	G	G	52394846	A	G	52394846	2	3	59	1	0	0	0	0	0	0	0	1	18112	175	7	4		4	ZNF649	19	52394846	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	6300486	52394846	6734137	426	17134											
TMC4	147798	genome.wustl.edu	37	chr19	54672292	54672292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagggcctgggggagcgcctCccaaccaggtgggcagcagc	7	3	18	13	1	0	0	0	0	0	0	1	2	1	1	4	5	4	2	4	5	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:54672292C>T	ENST00000376591.4	-	4	706	c.575G>A	c.(574-576)gGa>gAa	p.G192E	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.G186E	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	192					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGAGCGCCTCCCAACCAGGT	0.662											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	23	25					19																	54672292		2189	4289	6478	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.575G>A	19.37:g.54672292C>T	ENSP00000365776:p.Gly192Glu	1002	Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.G186E	ENST00000376591.4	37	c.557	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	C	0.678	-0.799326	0.02841	.	.	ENSG00000167608	ENST00000301187;ENST00000376591;ENST00000446291	T;T;T	0.40756	1.02;1.02;1.02	4.2	-0.352	0.12598	.	7739.210000	0.00166	N	0.000000	T	0.10637	0.0260	N	0.00554	-1.385	0.36032	D	0.839455	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.57087	-0.7871	10	0.02654	T	1	0.0059	0.5327	0.00631	0.2596:0.1212:0.1805:0.4387	.	192;186	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	E	186;192;96	ENSP00000301187:G186E;ENSP00000365776:G192E;ENSP00000416444:G96E	ENSP00000301187:G186E	G	-	2	0	TMC4	59364104	0.025000	0.19082	0.715000	0.30552	0.593000	0.36681	-0.144000	0.10280	0.120000	0.18254	-0.458000	0.05436	GGA	TMC4	-	NULL	ENSG00000167608		0.662	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0	12	0	C			54672292	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.647	T	T	54672292	C	T	54672292	3	4	59	1	0	0	0	0	1	0	0	0	16034	855	30	3	1611	3	TMC4	19	54672292	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2277446	54672292	4456691	427	17135											
LILRB5	10990	genome.wustl.edu	37	chr19	54756400	54756400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcagcccctgcaggaCggtagaaatgggctggacag	9	4	15	13	2	0	1	0	0	0	1	0	3	0	3	4	4	2	4	4	4	2	1	rs367690586		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:54756400C>T	ENST00000316219.5	-	10	1591	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	LILRB5_ENST00000345866.6_Missense_Mutation_p.R396H|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.R487H|LILRB5_ENST00000449561.2_Missense_Mutation_p.R496H	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	495					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.R495H(2)|p.R487H(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGCAGGACGGTAGAAATG	0.597																																																	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	83	80	81		1487,1187,1484	-3.1	0	19		81	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	496/592,396/492,495/591	54756400	2,13004	2203	4300	6503	SO:0001583	missense	0			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1484G>A	19.37:g.54756400C>T	ENSP00000320390:p.Arg495His		Q8N760	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R487H	ENST00000316219.5	37	c.1460	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	C	4.006	-0.001534	0.07819	0.0	2.33E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.00479	7.12;7.13;7.12;7.16	1.57	-3.14	0.05250	.	.	.	.	.	T	0.00178	0.0005	N	0.16790	0.44	0.09310	N	1	B;B;B;P	0.46784	0.032;0.013;0.099;0.884	B;B;B;B	0.38056	0.013;0.013;0.015;0.264	T	0.40346	-0.9568	9	0.07644	T	0.81	.	0.9829	0.01440	0.2361:0.3953:0.1794:0.1893	.	487;396;496;495	C9JMK7;O75023-2;O75023-3;O75023	.;.;.;LIRB5_HUMAN	H	495;487;496;396	ENSP00000320390:R495H;ENSP00000414225:R487H;ENSP00000406478:R496H;ENSP00000263430:R396H	ENSP00000320390:R495H	R	-	2	0	LILRB5	59448212	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.670000	0.05256	-2.029000	0.00930	-0.745000	0.03516	CGT	LILRB5	-	NULL	ENSG00000105609		0.597	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	-	0	18	0	C			54756400	-1	tier1	-	no_errors	ENST00000450632	ensembl	human	known	74_37	missense	50.00	21	21	SNP	0.000	T	T	54756400	C	T	54756400	3	4	59	1	0	0	0	0	1	0	0	0	8823	536	19	1	304	1	LILRB5	19	54756400	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	84108	54756400	4372583	428	17136											
KIR2DL4	3811	genome.wustl.edu	37	chr19	55315144	55315144	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcatcatcctggcatgtcTtggtgagtcctggaagggaa	8	11	14	8	0	3	1	2	1	1	0	5	3	5	3	2	5	0	1	2	5	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:55315144T>C	ENST00000538269.1	+	2	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.L13P|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000346587.4_Missense_Mutation_p.L13P|KIR2DL4_ENST00000396293.1_Missense_Mutation_p.L13P|KIR2DL4_ENST00000396284.2_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.L13P|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.L13P|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L13H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCATGTCTTGGTGAGTCC	0.577											OREG0003678	type=REGULATORY REGION|Gene=KIR2DL4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Missense(1)	ovary(1)											7	7	7					19																	55315144		1663	3606	5269	SO:0001627	intron_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-13845T>C	19.37:g.55315144T>C		1007	O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.L13P	ENST00000538269.1	37	c.38		19	.	.	.	.	.	.	.	.	.	.	T	11.09	1.536211	0.27475	.	.	ENSG00000189013	ENST00000359085;ENST00000345540;ENST00000357494;ENST00000396293;ENST00000346587;ENST00000396289	T;T;T;T;T;T	0.00569	6.56;6.58;6.52;6.63;6.75;6.59	1.07	-0.0402	0.13872	.	.	.	.	.	T	0.01800	0.0057	M	0.88105	2.93	0.23933	N	0.996425	D;P;D;D;B;D;B	0.62365	0.991;0.932;0.991;0.991;0.162;0.991;0.219	P;P;D;D;B;D;B	0.67548	0.713;0.616;0.952;0.926;0.002;0.921;0.007	T	0.42224	-0.9464	9	0.87932	D	0	.	2.9547	0.05872	0.0:0.3071:0.0:0.6929	.	13;13;13;13;13;13;13	Q99706;Q8N741;Q99706-4;Q99706-2;Q8N736;Q99706-3;Q8N738	KI2L4_HUMAN;.;.;.;.;.;.	P	13;13;13;13;13;11	ENSP00000351988:L13P;ENSP00000339634:L13P;ENSP00000350088:L13P;ENSP00000379588:L13P;ENSP00000345331:L13P;ENSP00000379584:L11P	ENSP00000339634:L13P	L	+	2	0	KIR2DL4	60006956	0.990000	0.36364	0.386000	0.26170	0.133000	0.20885	0.443000	0.21644	-0.045000	0.13468	0.113000	0.15668	CTT	KIR2DL4	-	NULL	ENSG00000189013		0.577	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL4	HGNC	protein_coding		-	0	9	0	T	NM_013289		55315144	1	tier1	-	no_errors	ENST00000345540	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.494	C	C	55315144	T	C	55315144	1	2	59	0	1	0	0	0	0	0	0	0	8345	1609	56	4		4	KIR2DL4	19	55315144	Intron	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	558744	55315144	3813839	429	17137											
NLRP9	338321	genome.wustl.edu	37	chr19	56223931	56223931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaatgtccttacaggaatCggaagtaaggaaacagccca	16	6	10	9	1	0	0	0	0	0	0	2	3	1	3	2	3	4	2	2	3	6	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr19:56223931C>T	ENST00000332836.2	-	7	2554	c.2527G>A	c.(2527-2529)Gat>Aat	p.D843N		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	843						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTACAGGAATCGGAAGTAAGG	0.423																																																	0													81	75	77					19																	56223931		2199	4293	6492	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2527G>A	19.37:g.56223931C>T	ENSP00000331857:p.Asp843Asn		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D843N	ENST00000332836.2	37	c.2527	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	7.699	0.692731	0.15039	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.48522	0.81	4.0	1.76	0.24704	.	.	.	.	.	T	0.27731	0.0682	L	0.31926	0.97	0.09310	N	1	B	0.33238	0.403	B	0.22880	0.042	T	0.11518	-1.0584	9	0.19147	T	0.46	.	5.3794	0.16183	0.0:0.6148:0.2684:0.1168	.	843	Q7RTR0	NALP9_HUMAN	N	843	ENSP00000331857:D843N	ENSP00000331857:D843N	D	-	1	0	NLRP9	60915743	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.123000	0.03263	0.451000	0.26802	0.638000	0.83543	GAT	NLRP9	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000185792		0.423	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1		0	13	0	C	NM_176820		56223931	-1			no_errors	ENST00000332836	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.000	T	T	56223931	C	T	56223931	3	4	59	1	0	0	0	0	1	0	0	0	10523	884	31	1	460	1	NLRP9	19	56223931	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	908787	56223931	2905052	430	17138											
PTPRA	5786	genome.wustl.edu	37	chr20	3002042	3002042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatgtgactgtcctggtgGactacacagtacggaagttc	10	10	13	8	1	0	1	0	1	0	0	2	4	1	4	1	4	2	2	1	4	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr20:3002042G>T	ENST00000216877.6	+	13	1502	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y	PTPRA_ENST00000356147.3_Missense_Mutation_p.D368Y|PTPRA_ENST00000358719.4_Missense_Mutation_p.D233Y|PTPRA_ENST00000399903.2_Missense_Mutation_p.D377Y|PTPRA_ENST00000380393.3_Missense_Mutation_p.D377Y|PTPRA_ENST00000318266.5_Missense_Mutation_p.D368Y|PTPRA_ENST00000425918.2_Missense_Mutation_p.D388Y	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	377	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGTCCTGGTGGACTACACAGT	0.512																																																	0													203	158	173					20																	3002042		2203	4300	6503	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1102G>T	20.37:g.3002042G>T	ENSP00000216877:p.Asp368Tyr		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D388Y	ENST00000216877.6	37	c.1162	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273322	0.80580	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64;2.64	4.78	4.78	0.61160	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.135771	0.52532	U	0.000067	T	0.32285	0.0824	L	0.55103	1.725	0.80722	D	1	P;D;D	0.76494	0.867;0.999;0.979	P;D;P	0.69654	0.512;0.965;0.676	T	0.00842	-1.1544	10	0.33940	T	0.23	.	18.3642	0.90385	0.0:0.0:1.0:0.0	.	388;377;368	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Y	377;368;377;233;388;368;368	ENSP00000369756:D377Y;ENSP00000216877:D368Y;ENSP00000382787:D377Y;ENSP00000351559:D233Y;ENSP00000393553:D388Y;ENSP00000314568:D368Y;ENSP00000348468:D368Y	ENSP00000216877:D368Y	D	+	1	0	PTPRA	2950042	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.795000	0.85887	2.631000	0.89168	0.563000	0.77884	GAC	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.512	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	-	0	42	0	G			3002042	1	tier1	-	no_errors	ENST00000425918	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	3002042	G	T	3002042	3	4	59	1	0	0	0	0	1	0	0	0	12840	1174	41	3	1171	3	PTPRA	20	3002042	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		3002042	60023478	431	17139											
C20orf29	55317	genome.wustl.edu	37	chr20	3804698	3804698	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggctgggcgtgctctcGttaggctttgccctggtgct	1	14	16	10	2	1	0	0	0	1	0	2	0	1	0	1	4	3	5	1	4	1	2	rs545414217		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr20:3804698G>T	ENST00000246041.2	+	3	576	c.357G>T	c.(355-357)tcG>tcT	p.S119S	AP5S1_ENST00000379573.2_3'UTR|AP5S1_ENST00000379567.2_Silent_p.S119S			Q9NUS5	AP5S1_HUMAN	adaptor-related protein complex 5, sigma 1 subunit	119					double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)											GCGTGCTCTCGTTAGGCTTTG	0.662																																																	0													99	69	80					20																	3804698		2203	4300	6503	SO:0001819	synonymous_variant	0			AK002030	CCDS13070.1	20p13	2012-02-27	2012-02-27	2012-02-27	ENSG00000125843	ENSG00000125843			15875	protein-coding gene	gene with protein product		614824	"chromosome 20 open reading frame 29"	C20orf29		11780052, 22022230	Standard	NM_001204446		Approved	FLJ11168	uc002wjs.2	Q9NUS5	OTTHUMG00000031760	ENST00000246041.2:c.357G>T	20.37:g.3804698G>T			B3KSD0|D3DVY7	Silent	SNP	NULL	p.S119	ENST00000246041.2	37	c.357	CCDS13070.1	20																																																																																			AP5S1	-	NULL	ENSG00000125843		0.662	AP5S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5S1	HGNC	protein_coding	OTTHUMT00000077768.2	-	0	57	0	G	NM_018347		3804698	1	tier1	-	no_errors	ENST00000246041	ensembl	human	known	74_37	silent	32.73	37	18	SNP	0.001	T	T	3804698	G	T	3804698	2	4	59	1	0	0	0	0	0	0	0	1	2115	1132	40	2		2	C20orf29	20	3804698	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	802656	3804698	59220822	432	17140											
CD93	22918	genome.wustl.edu	37	chr20	23066708	23066708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcagcgctcagcttgcccGagtgggccgtgtagcaggcg	5	6	17	13	5	1	0	1	0	0	0	1	1	1	0	2	3	4	5	2	3	1	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr20:23066708G>A	ENST00000246006.4	-	1	269	c.122C>T	c.(121-123)tCg>tTg	p.S41L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	41	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAGCTTGCCCGAGTGGGCCGT	0.697																																																	0													26	23	24					20																	23066708		2200	4296	6496	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.122C>T	20.37:g.23066708G>A	ENSP00000246006:p.Ser41Leu		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.S41L	ENST00000246006.4	37	c.122	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	G	6.520	0.464154	0.12402	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	T	0.80738	-1.41	5.88	3.96	0.45880	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.558192	0.16514	N	0.211139	T	0.63319	0.2501	N	0.13235	0.315	0.25795	N	0.984576	B	0.06786	0.001	B	0.01281	0.0	T	0.43589	-0.9382	10	0.11485	T	0.65	-11.1266	11.0412	0.47831	0.1357:0.5987:0.2657:0.0	.	41	Q9NPY3	C1QR1_HUMAN	L	41	ENSP00000246006:S41L	ENSP00000246006:S41L	S	-	2	0	CD93	23014708	0.975000	0.34042	0.998000	0.56505	0.961000	0.63080	1.617000	0.36943	0.817000	0.34445	-0.133000	0.14855	TCG	CD93	-	pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000125810		0.697	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0	15	0	G	NM_012072		23066708	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	34.62	17	9	SNP	1.000	A	A	23066708	G	A	23066708	3	1	59	1	0	0	0	0	1	0	0	0	3054	1059	37	1	1844	1	CD93	20	23066708	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	19262010	23066708	39958812	433	17141											
TOMM34	10953	genome.wustl.edu	37	chr20	43572202	43572202	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttctgtgtactgcttcagGaccaaatagcagagtgctct	9	12	10	10	0	3	1	1	0	2	1	3	2	3	2	1	1	4	5	1	1	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr20:43572202G>T	ENST00000372813.3	-	6	869	c.717C>A	c.(715-717)gtC>gtA	p.V239V	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	239					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				ACTGCTTCAGGACCAAATAGC	0.502																																																	0													123	110	115					20																	43572202		2203	4300	6503	SO:0001819	synonymous_variant	0			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"Tetratricopeptide (TTC) repeat domain containing"	15746	protein-coding gene	gene with protein product	"outer mitochondrial membrane translocase (34kD)"					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.717C>A	20.37:g.43572202G>T			Q53GH9|Q6IBN7|Q9NTZ3	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V239	ENST00000372813.3	37	c.717	CCDS13340.1	20																																																																																			TOMM34	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000025772		0.502	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3		0	43	0	G	NM_006809		43572202	-1			no_errors	ENST00000372813	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.795	T	T	43572202	G	T	43572202	2	4	59	1	0	0	0	0	0	0	0	1	16404	1161	41	3		3	TOMM34	20	43572202	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	20505494	43572202	19453318	434	17142											
EEF1A2	1917	genome.wustl.edu	37	chr20	62127339	62127339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgccgcgctcacgctccGccttcagcttgtccagcacc	5	9	9	18	4	2	1	2	1	0	0	4	1	4	1	5	0	3	4	5	0	0	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr20:62127339G>A	ENST00000298049.7	-	2	264	c.194C>T	c.(193-195)gCg>gTg	p.A65V	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A65V			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	65	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CTCACGCTCCGCCTTCAGCTT	0.627											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													214	169	184					20																	62127339		2203	4299	6502	SO:0001583	missense	0			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"statin-like", "statin"	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.194C>T	20.37:g.62127339G>A	ENSP00000298049:p.Ala65Val	1058	B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.A65V	ENST00000298049.7	37	c.194	CCDS13522.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266952	0.80469	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.71579	-0.58;-0.58	4.01	4.01	0.46588	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	D	0.000000	D	0.85031	0.5604	M	0.85197	2.74	0.80722	D	1	D;P	0.89917	1.0;0.71	D;B	0.72338	0.977;0.2	D	0.88263	0.2924	10	0.66056	D	0.02	15.4109	16.4593	0.84031	0.0:0.0:1.0:0.0	.	41;65	Q59GP5;Q05639	.;EF1A2_HUMAN	V	65	ENSP00000298049:A65V;ENSP00000217182:A65V	ENSP00000217182:A65V	A	-	2	0	EEF1A2	61597783	1.000000	0.71417	0.971000	0.41717	0.874000	0.50279	9.664000	0.98607	1.954000	0.56735	0.313000	0.20887	GCG	EEF1A2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000101210		0.627	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A2	HGNC	protein_coding	OTTHUMT00000080495.1	-	0	37	0	G	NM_001958		62127339	-1	tier1	-	no_errors	ENST00000217182	ensembl	human	known	74_37	missense	29.51	43	18	SNP	1.000	A	A	62127339	G	A	62127339	3	1	59	1	0	0	0	0	1	0	0	0	4938	1087	38	1	1221	1	EEF1A2	20	62127339	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	18555137	62127339	898181	435	17143											
OPRL1	4987	genome.wustl.edu	37	chr20	62729766	62729766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcatgatccggcggctcCgtggagtccgcctgctctcg	3	9	13	16	5	2	1	1	1	1	0	6	2	5	2	5	3	1	2	5	3	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr20:62729766C>T	ENST00000349451.3	+	6	1139	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	OPRL1_ENST00000355631.4_Missense_Mutation_p.R243C|OPRL1_ENST00000336866.2_Missense_Mutation_p.R243C	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	243					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCGGCGGCTCCGTGGAGTCCG	0.627																																																	0													170	147	155					20																	62729766		2203	4300	6503	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"GPCR / Class A : Opioid receptors"	8155	protein-coding gene	gene with protein product	"LC132 receptor-like", "orphanin FQ receptor", "kappa3-related opioid receptor"	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.727C>T	20.37:g.62729766C>T	ENSP00000336764:p.Arg243Cys		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.R243C	ENST00000349451.3	37	c.727	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783331	0.31593	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.42900	0.96;0.96;0.96	4.64	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.309883	0.30649	N	0.009161	T	0.60157	0.2247	M	0.78049	2.395	0.21740	N	0.999562	D;D	0.89917	0.999;1.0	P;D	0.65773	0.855;0.938	T	0.52320	-0.8591	10	0.87932	D	0	.	10.3533	0.43950	0.4129:0.5871:0.0:0.0	.	238;243	P41146-2;P41146	.;OPRX_HUMAN	C	243	ENSP00000336843:R243C;ENSP00000347848:R243C;ENSP00000336764:R243C	ENSP00000336843:R243C	R	+	1	0	OPRL1	62200210	0.992000	0.36948	0.149000	0.22428	0.006000	0.05464	2.579000	0.46059	2.130000	0.65690	0.505000	0.49811	CGT	OPRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt	ENSG00000125510		0.627	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1	-	0	33	0	C	NM_182647		62729766	1	tier1	-	no_errors	ENST00000336866	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.133	T	T	62729766	C	T	62729766	3	4	59	1	0	0	0	0	1	0	0	0	10925	652	23	1	737	1	OPRL1	20	62729766	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	602427	62729766	295754	436	17144											
NCAM2	4685	genome.wustl.edu	37	chr21	22790836	22790836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggacgctataattgcaCagccactaatcatataggaa	14	11	7	9	1	1	0	1	0	0	0	1	2	1	2	1	2	2	2	1	2	6	7			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr21:22790836C>A	ENST00000400546.1	+	11	1676	c.1427C>A	c.(1426-1428)aCa>aAa	p.T476K	NCAM2_ENST00000284894.7_Missense_Mutation_p.T334K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	476	Ig-like C2-type 5.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T476I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TATAATTGCACAGCCACTAAT	0.308																																																	1	Substitution - Missense(1)	endometrium(1)											113	111	111					21																	22790836		1823	4081	5904	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1427C>A	21.37:g.22790836C>A	ENSP00000383392:p.Thr476Lys		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.T476K	ENST00000400546.1	37	c.1427	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204449	0.79127	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.65732	-0.17;-0.17	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80703	-0.1264	10	0.87932	D	0	-22.5272	17.0099	0.86403	0.0:1.0:0.0:0.0	.	334;476	B7Z5K2;O15394	.;NCAM2_HUMAN	K	476;334	ENSP00000383392:T476K;ENSP00000284894:T334K	ENSP00000284894:T334K	T	+	2	0	NCAM2	21712707	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.027000	0.76463	2.359000	0.80004	0.467000	0.42956	ACA	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154654		0.308	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1		0	25	0	C	NM_004540		22790836	1			no_errors	ENST00000400546	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	22790836	C	A	22790836	3	1	59	1	0	0	0	0	1	0	0	0	10242	478	17	3	1469	3	NCAM2	21	22790836	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09		22790836	25339059	437	17145											
NCAM2	4685	genome.wustl.edu	37	chr21	22849731	22849731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacagctgccaatagattGggatattctgaaccgacagt	13	11	9	8	1	1	2	0	1	1	1	1	4	1	3	2	1	4	1	2	1	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr21:22849731G>T	ENST00000400546.1	+	15	2265	c.2016G>T	c.(2014-2016)ttG>ttT	p.L672F	NCAM2_ENST00000284894.7_Missense_Mutation_p.L530F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	672	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAATAGATTGGGATATTCTG	0.378																																																	0													88	84	85					21																	22849731		1873	4111	5984	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2016G>T	21.37:g.22849731G>T	ENSP00000383392:p.Leu672Phe		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.L672F	ENST00000400546.1	37	c.2016	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309691	0.60414	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.57273	0.41;0.41	5.8	1.49	0.22878	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.118262	0.56097	D	0.000028	T	0.49423	0.1556	N	0.22421	0.69	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.891	T	0.45760	-0.9239	10	0.56958	D	0.05	-10.5762	7.1683	0.25704	0.1452:0.0:0.5345:0.3203	.	530;672	B7Z5K2;O15394	.;NCAM2_HUMAN	F	672;530	ENSP00000383392:L672F;ENSP00000284894:L530F	ENSP00000284894:L530F	L	+	3	2	NCAM2	21771602	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.929000	0.28844	0.364000	0.24374	0.650000	0.86243	TTG	NCAM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154654		0.378	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1		0	43	0	G	NM_004540		22849731	1			no_errors	ENST00000400546	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.995	T	T	22849731	G	T	22849731	3	4	59	1	0	0	0	0	1	0	0	0	10242	1339	47	3	2074	3	NCAM2	21	22849731	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	58895	22849731	25280164	438	17146											
DYRK1A	1859	genome.wustl.edu	37	chr21	38853058	38853059	+	Frame_Shift_Ins	INS	-	-	A																															gataactatgattatattgtINSaaaaaacggagaaaagtgga																										TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr21:38853058_38853059insA	ENST00000398960.2	+	4	521_522	c.446_447insA	c.(445-450)gtaaaafs	p.VK149fs	DYRK1A_ENST00000338785.3_Frame_Shift_Ins_p.VK149fs|DYRK1A_ENST00000398956.2_Frame_Shift_Ins_p.VK149fs|DYRK1A_ENST00000321219.8_Frame_Shift_Ins_p.VK149fs|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000451934.1_Frame_Shift_Ins_p.VK149fs|DYRK1A_ENST00000339659.4_Frame_Shift_Ins_p.VK140fs	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	149					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GATTATATTGTAAAAAACGGAG	0.376																																					Melanoma(114;464 1602 31203 43785 45765)												0																																										SO:0001589	frameshift_variant	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.452dupA	21.37:g.38853064_38853064dupA	ENSP00000381932:p.Val149fs		O60769|Q92582|Q92810|Q9UNM5	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N151fs	ENST00000398960.2	37	c.446_447	CCDS42925.1	21																																																																																			DYRK1A	-	superfamily_Kinase-like_dom	ENSG00000157540		0.376	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1		0	26	0	-	NM_001396		38853059	1	tier1		no_errors	ENST00000398960	ensembl	human	known	74_37	frame_shift_ins	24.00	19	6	INS	1.000:0.984	A	A	38853059	-	A	38853058	7	5	59	1	0	1	1	0	0	0	0	0	4868	1638	57	0	460	0	DYRK1A	21	38853058	Frame_Shift_Ins	INS	-	TCGA-L5-A4OJ-01A-11D-A27G-09	16003327	38853058	9276837	439	17147											
PRDM15	63977	genome.wustl.edu	37	chr21	43240471	43240471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggatgagcttgtggCgctccaggttcccgatgctg	4	12	15	10	2	0	1	0	1	0	0	2	3	2	2	2	3	2	4	2	3	0	2	rs376732864		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr21:43240471C>T	ENST00000269844.3	-	24	3328	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	PRDM15_ENST00000398548.1_Missense_Mutation_p.R744H|PRDM15_ENST00000447207.2_Missense_Mutation_p.R707H|PRDM15_ENST00000538201.1_Missense_Mutation_p.R727H|PRDM15_ENST00000422911.1_Missense_Mutation_p.R764H	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1073					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GAGCTTGTGGCGCTCCAGGTT	0.637																																																	0									HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	101	79	87		2231,3218	5.2	1	21		87	0,8600		0,0,4300	no	missense,missense	PRDM15	NM_001040424.1,NM_022115.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	744/1179,1073/1508	43240471	1,13005	2203	4300	6503	SO:0001583	missense	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3218G>A	21.37:g.43240471C>T	ENSP00000269844:p.Arg1073His		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.R1073H	ENST00000269844.3	37	c.3218	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	33	5.226081	0.95173	2.27E-4	0.0	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68476	0.3005	L	0.52206	1.635	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70842	-0.4762	9	0.66056	D	0.02	-36.7553	17.6424	0.88140	0.0:1.0:0.0:0.0	.	1073;764;744	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	H	764;744;727;707;1073	ENSP00000408592:R764H;ENSP00000381556:R744H;ENSP00000444044:R727H;ENSP00000390245:R707H;ENSP00000269844:R1073H	ENSP00000269844:R1073H	R	-	2	0	PRDM15	42113540	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.544000	0.82117	2.397000	0.81536	0.651000	0.88453	CGC	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141956		0.637	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0	26	0	C	NM_022115		43240471	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	T	T	43240471	C	T	43240471	3	4	59	1	0	0	0	0	1	0	0	0	12498	768	27	1	1337	1	PRDM15	21	43240471	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4387413	43240471	4889424	440	17148											
KRTAP10-7	386675	genome.wustl.edu	37	chr21	46021305	46021305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagccagcttgctgcAcctcctcccaaagccagcag	8	6	9	18	0	0	0	0	0	0	0	2	0	2	0	6	0	7	5	6	0	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr21:46021305A>C	ENST00000380102.2	+	1	809	c.784A>C	c.(784-786)Acc>Ccc	p.T262P	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	262	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						AGCTTGCTGCACCTCCTCCCA	0.627																																																	0													134	135	135					21																	46021305		2203	4300	6503	SO:0001583	missense	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.784A>C	21.37:g.46021305A>C	ENSP00000369445:p.Thr262Pro		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	NULL	p.T262P	ENST00000380102.2	37	c.784		21	.	.	.	.	.	.	.	.	.	.	a	3.029	-0.200092	0.06219	.	.	ENSG00000205441	ENST00000380102	T	0.00664	5.92	2.93	-1.4	0.08968	.	.	.	.	.	T	0.01695	0.0054	M	0.89095	3.005	0.09310	N	1	P	0.52316	0.952	P	0.46850	0.529	T	0.36335	-0.9752	9	0.30078	T	0.28	.	3.0327	0.06111	0.4762:0.2326:0.2912:0.0	.	257	P60409-2	.	P	262	ENSP00000369445:T262P	ENSP00000369445:T262P	T	+	1	0	KRTAP10-7	44845733	0.000000	0.05858	0.000000	0.03702	0.360000	0.29518	-0.258000	0.08733	-0.206000	0.10203	0.163000	0.16589	ACC	KRTAP10-7	-	NULL	ENSG00000205441		0.627	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	-	0	74	0	A	NM_198689		46021305	1	tier1	-	no_errors	ENST00000380102	ensembl	human	known	74_37	missense	43.14	58	44	SNP	0.000	C	C	46021305	A	C	46021305	3	2	59	1	0	0	0	0	1	0	0	0	8541	159	6	4	775	4	KRTAP10-7	21	46021305	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	2780834	46021305	2108590	441	17149											
KRTAP12-3	386683	genome.wustl.edu	37	chr21	46078017	46078017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatgcccgtgagctgcAcgcgcattgtgtgcgtggct	4	11	15	11	4	0	1	0	1	0	0	0	1	0	1	1	1	5	5	1	1	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr21:46078017A>G	ENST00000397907.1	+	1	169	c.121A>G	c.(121-123)Acg>Gcg	p.T41A	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	41	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGTGAGCTGCACGCGCATTGT	0.642																																																	0													97	111	106					21																	46078017		2188	4270	6458	SO:0001583	missense	0			AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"Keratin associated proteins"	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.121A>G	21.37:g.46078017A>G	ENSP00000381005:p.Thr41Ala			Missense_Mutation	SNP	NULL	p.T41A	ENST00000397907.1	37	c.121	CCDS42964.1	21	.	.	.	.	.	.	.	.	.	.	N	11.67	1.707924	0.30322	.	.	ENSG00000205439	ENST00000397907	T	0.01388	4.95	4.31	-8.62	0.00881	.	.	.	.	.	T	0.01222	0.0040	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.45745	-0.9240	8	0.62326	D	0.03	.	9.9947	0.41891	0.2149:0.6296:0.1555:0.0	.	41	P60328	KR123_HUMAN	A	41	ENSP00000381005:T41A	ENSP00000381005:T41A	T	+	1	0	KRTAP12-3	44902445	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.931000	0.01556	-1.819000	0.01216	-0.621000	0.04028	ACG	KRTAP12-3	-	NULL	ENSG00000205439		0.642	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-3	HGNC	protein_coding	OTTHUMT00000128033.1	-	0	39	0	A			46078017	1	tier1	-	no_errors	ENST00000397907	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.000	G	G	46078017	A	G	46078017	3	3	59	1	0	0	0	0	1	0	0	0	8547	159	6	4	123	4	KRTAP12-3	21	46078017	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	56712	46078017	2051878	442	17150											
CECR2	27443	genome.wustl.edu	37	chr22	17983960	17983960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcaccgagagttttcGcgagaggacctcccttcgag	9	8	12	12	4	1	2	1	0	0	2	4	6	2	3	3	2	0	1	3	2	0	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr22:17983960G>A	ENST00000400585.2	+	7	731	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CECR2_ENST00000400573.5_Missense_Mutation_p.R239H|CECR2_ENST00000262608.8_Missense_Mutation_p.R220H|CECR2_ENST00000342247.5_Missense_Mutation_p.R219H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	261					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.R239H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGAGTTTTCGCGAGAGGACC	0.562																																																	1	Substitution - Missense(1)	central_nervous_system(1)											81	88	86					22																	17983960		1964	4145	6109	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.293G>A	22.37:g.17983960G>A	ENSP00000383428:p.Arg98His		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R239H	ENST00000400585.2	37	c.716		22	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458572	0.84317	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.35	5.35	0.76521	.	0.000000	0.47852	D	0.000214	T	0.67468	0.2896	L	0.56769	1.78	0.40122	D	0.976617	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.993;0.966;0.987	T	0.69807	-0.5045	10	0.72032	D	0.01	-14.7554	19.4213	0.94723	0.0:0.0:1.0:0.0	.	261;98;261;239	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	H	219;98;239;220	ENSP00000341219:R219H;ENSP00000383428:R98H;ENSP00000383417:R239H;ENSP00000262608:R220H	ENSP00000262608:R220H	R	+	2	0	CECR2	16363960	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.337000	0.79256	2.664000	0.90586	0.655000	0.94253	CGC	CECR2	-	NULL	ENSG00000099954		0.562	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	-	0	28	0	G	NM_031413		17983960	1	tier1	-	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	40.62	19	13	SNP	1.000	A	A	17983960	G	A	17983960	3	1	59	1	0	0	0	0	1	0	0	0	3213	1087	38	1	680	1	CECR2	22	17983960	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		17983960	33320606	443	17151											
MYO18B	84700	genome.wustl.edu	37	chr22	26423549	26423549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccacgacttgcgggtgacGgtggcgagcgaacgtccccc	6	6	14	15	6	0	1	0	1	0	0	2	4	2	1	3	3	3	0	3	3	1	1	rs200890530		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr22:26423549G>A	ENST00000407587.2	+	43	7781	c.7612G>A	c.(7612-7614)Ggt>Agt	p.G2538S	MYO18B_ENST00000335473.7_Missense_Mutation_p.G2537S|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2537S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2537						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCGGGTGACGGTGGCGAGCG	0.567																																																	0								G	SER/GLY	0,4018		0,0,2009	43	45	45		7609	1.6	0	22		45	1,8295		0,1,4147	no	missense	MYO18B	NM_032608.5	56	0,1,6156	AA,AG,GG		0.0121,0.0,0.0081	possibly-damaging	2537/2568	26423549	1,12313	2009	4148	6157	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7612G>A	22.37:g.26423549G>A	ENSP00000386096:p.Gly2538Ser		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G2537S	ENST00000407587.2	37	c.7609		22	.	.	.	.	.	.	.	.	.	.	G	7.994	0.754018	0.15778	0.0	1.21E-4	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88201	-2.33;-2.33;-2.35	5.06	1.61	0.23674	.	0.099149	0.36374	N	0.002622	T	0.81403	0.4815	L	0.57536	1.79	0.09310	N	1	P;P;P;P;P	0.47910	0.652;0.66;0.66;0.902;0.77	B;B;B;B;B	0.34590	0.079;0.058;0.058;0.186;0.124	T	0.74904	-0.3505	10	0.72032	D	0.01	.	5.8363	0.18609	0.2449:0.1417:0.6133:0.0	.	2050;2539;2537;2538;2537	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	S	2537;2537;2538	ENSP00000441229:G2537S;ENSP00000334563:G2537S;ENSP00000386096:G2538S	ENSP00000334563:G2537S	G	+	1	0	MYO18B	24753549	0.993000	0.37304	0.002000	0.10522	0.008000	0.06430	2.864000	0.48404	0.548000	0.28955	-0.215000	0.12644	GGT	MYO18B	-	NULL	ENSG00000133454		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0	13	0	G	NM_032608		26423549	1			no_errors	ENST00000335473	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.000	A	A	26423549	G	A	26423549	3	1	59	1	0	0	0	0	1	0	0	0	10104	1116	39	1	7775	1	MYO18B	22	26423549	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	8439589	26423549	24881017	444	17152											
SH3BP1	23616	genome.wustl.edu	37	chr22	38049875	38049875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtggaggacatggctcGgaggagtgagttggctgtgg	7	8	19	7	1	0	1	0	1	0	0	1	5	0	5	1	7	0	3	1	7	0	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr22:38049875G>T	ENST00000357436.4	+	17	2001	c.1688G>T	c.(1687-1689)cGg>cTg	p.R563L	SH3BP1_ENST00000599616.1_Missense_Mutation_p.R499L|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	563					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GACATGGCTCGGAGGAGTGAG	0.657																																																	0													29	31	30					22																	38049875		2200	4300	6500	SO:0001583	missense	0				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"Rho GTPase activating proteins"	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1688G>T	22.37:g.38049875G>T	ENSP00000350018:p.Arg563Leu		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.R563L	ENST00000357436.4	37	c.1688	CCDS13952.2	22	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972935	0.53614	.	.	ENSG00000100092	ENST00000357436;ENST00000397014	T	0.17528	2.27	5.45	4.44	0.53790	.	0.000000	0.53938	D	0.000058	T	0.26846	0.0657	L	0.34521	1.04	0.80722	D	1	D;P;P;D	0.89917	1.0;0.916;0.931;0.997	D;P;P;D	0.81914	0.995;0.522;0.468;0.987	T	0.01762	-1.1279	10	0.31617	T	0.26	.	10.0865	0.42421	0.0899:0.0:0.9101:0.0	.	477;499;563;477	E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;3BP1_HUMAN;.	L	563;477	ENSP00000350018:R563L	ENSP00000350018:R563L	R	+	2	0	SH3BP1	36379821	0.993000	0.37304	0.995000	0.50966	0.559000	0.35586	2.491000	0.45303	1.547000	0.49401	0.655000	0.94253	CGG	SH3BP1	-	NULL	ENSG00000100092		0.657	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4		0	69	0	G	NM_018957		38049875	1			no_errors	ENST00000357436	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.876	T	T	38049875	G	T	38049875	3	4	59	1	0	0	0	0	1	0	0	0	14289	1116	39	2	1754	2	SH3BP1	22	38049875	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	11626326	38049875	13254691	445	17153											
DDX17	10521	genome.wustl.edu	37	chr22	38894461	38894461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataccgccaacgtcttcccaGagccagtctgagcaatgccc	10	7	8	16	2	2	2	0	1	2	1	3	2	3	2	5	0	5	1	5	0	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr22:38894461G>C	ENST00000396821.3	-	4	755	c.656C>G	c.(655-657)tCt>tGt	p.S219C	DDX17_ENST00000381633.3_Missense_Mutation_p.S140C|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	219	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CGTCTTCCCAGAGCCAGTCTG	0.458																																					Ovarian(55;1085 1454 6392 21425)												0													125	104	111					22																	38894461		2203	4300	6503	SO:0001583	missense	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.656C>G	22.37:g.38894461G>C	ENSP00000380033:p.Ser219Cys		B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S219C	ENST00000396821.3	37	c.656	CCDS46706.1	22	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785173	0.90282	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.22945	1.93;1.93;1.93	5.39	5.39	0.77823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	H	0.98559	4.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82837	-0.0260	10	0.87932	D	0	-16.515	19.5163	0.95167	0.0:0.0:1.0:0.0	.	140;221;219	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	C	219;140;219;221	ENSP00000380033:S219C;ENSP00000371046:S140C;ENSP00000385536:S219C	ENSP00000371046:S140C	S	-	2	0	DDX17	37224407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.459000	0.97638	2.683000	0.91414	0.591000	0.81541	TCT	DDX17	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000100201		0.458	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	HGNC	protein_coding	OTTHUMT00000321476.2	-	0	27	0	G	NM_030881		38894461	-1	tier1	-	no_errors	ENST00000396821	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	C	C	38894461	G	C	38894461	3	2	59	1	0	0	0	0	1	0	0	0	4353	942	33	5	1579	5	DDX17	22	38894461	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	844586	38894461	12410105	446	17154											
CBX6	23466	genome.wustl.edu	37	chr22	39262762	39262762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgtacagcgcaaaggCgccgaacttcatgtggcgga	10	7	14	10	4	1	0	1	0	0	0	1	2	1	1	1	4	3	3	1	4	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr22:39262762C>T	ENST00000407418.3	-	5	814	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	CBX6_ENST00000216083.6_Missense_Mutation_p.A213T			O95503	CBX6_HUMAN	chromobox homolog 6	231					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					AGCGCAAAGGCGCCGAACTTC	0.682																																																	0													43	40	41					22																	39262762		2203	4300	6503	SO:0001583	missense	0				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.691G>A	22.37:g.39262762C>T	ENSP00000384490:p.Ala231Thr		A8KAH0|Q96EM5	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.A231T	ENST00000407418.3	37	c.691	CCDS13980.1	22	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362718	0.24684	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.69	-0.512	0.11966	.	13.495900	0.00649	N	0.000554	T	0.21509	0.0518	N	0.04508	-0.205	0.25601	N	0.986595	B	0.06786	0.001	B	0.04013	0.001	T	0.23868	-1.0176	9	0.08599	T	0.76	.	9.5196	0.39126	0.0:0.5626:0.0:0.4374	.	231	O95503	CBX6_HUMAN	T	231;213	.	ENSP00000216083:A213T	A	-	1	0	CBX6	37592708	0.000000	0.05858	0.915000	0.36163	0.928000	0.56348	-1.282000	0.02799	-0.336000	0.08438	-0.481000	0.04817	GCC	CBX6	-	NULL	ENSG00000183741		0.682	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1	-	0	31	0	C	NM_014292		39262762	-1	tier1	-	no_errors	ENST00000407418	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.912	T	T	39262762	C	T	39262762	3	4	59	1	0	0	0	0	1	0	0	0	2729	768	27	1	551	1	CBX6	22	39262762	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	368301	39262762	12041804	447	17155											
PLXNB2	23654	genome.wustl.edu	37	chr22	50728606	50728606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacttctccccgctgccGtcctcgtagaacaggcggag	9	7	11	14	4	1	2	0	0	1	2	4	3	2	3	4	2	2	2	4	2	3	2	rs200224862		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chr22:50728606G>T	ENST00000449103.1	-	3	548	c.408C>A	c.(406-408)gaC>gaA	p.D136E	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D136E			O15031	PLXB2_HUMAN	plexin B2	136	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCGCTGCCGTCCTCGTAGA	0.652																																																	0													31	35	34					22																	50728606		2129	4237	6366	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"Plexins"	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.408C>A	22.37:g.50728606G>T	ENSP00000409171:p.Asp136Glu		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D136E	ENST00000449103.1	37	c.408	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.504905	0.00992	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	4.32	-3.48	0.04739	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.338722	0.25109	N	0.033062	T	0.02119	0.0066	N	0.14661	0.345	0.26873	N	0.967711	B	0.20887	0.049	B	0.31442	0.13	T	0.44817	-0.9303	10	0.02654	T	1	.	5.6263	0.17485	0.4901:0.0:0.2951:0.2147	.	136	O15031	PLXB2_HUMAN	E	136	ENSP00000409171:D136E;ENSP00000352288:D136E;ENSP00000392620:D136E;ENSP00000387470:D136E	ENSP00000352288:D136E	D	-	3	2	PLXNB2	49070733	0.598000	0.26882	0.012000	0.15200	0.045000	0.14185	-0.049000	0.11924	-0.428000	0.07339	-0.258000	0.10820	GAC	PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.652	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0	38	0	G	NM_012401		50728606	-1			no_errors	ENST00000359337	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.062	T	T	50728606	G	T	50728606	3	4	59	1	0	0	0	0	1	0	0	0	12163	1136	40	2	5248	2	PLXNB2	22	50728606	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	11465844	50728606	575960	448	17156											
ZBED1	9189	genome.wustl.edu	37	chrX	2407851	2407851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccagcttcgggagctGgaaggcctgctggatgccgg	5	6	16	14	3	0	0	0	0	0	0	1	3	0	3	4	5	4	3	4	5	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:2407851G>T	ENST00000381223.4	-	2	1113	c.910C>A	c.(910-912)Cag>Aag	p.Q304K	ZBED1_ENST00000381218.3_Missense_Mutation_p.Q304K|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q304K|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000515319.1_5'Flank	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	304					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCGGGAGCTGGAAGGCCTGC	0.617																																																	0													61	64	63					X																	2407851		2203	4296	6499	SO:0001583	missense	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.910C>A	X.37:g.2407851G>T	ENSP00000370621:p.Gln304Lys		Q96BY4	Missense_Mutation	SNP	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.Q304K	ENST00000381223.4	37	c.910	CCDS14118.1	X	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.121801	0.00346	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218	T;T;T	0.18502	2.21;2.21;2.21	3.19	3.19	0.36642	Ribonuclease H-like (1);	1.179390	0.06480	N	0.732669	T	0.09158	0.0226	.	.	.	0.09310	N	1	B	0.19583	0.037	B	0.12837	0.008	T	0.06607	-1.0817	9	0.05833	T	0.94	-26.9338	13.9326	0.64006	0.0:0.0:1.0:0.0	.	304	O96006	ZBED1_HUMAN	K	304	ENSP00000370621:Q304K;ENSP00000370620:Q304K;ENSP00000370616:Q304K	ENSP00000370616:Q304K	Q	-	1	0	ZBED1	2417851	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	3.752000	0.55172	1.232000	0.43678	0.515000	0.50301	CAG	ZBED1	-	superfamily_RNaseH-like_dom	ENSG00000214717		0.617	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	-	0	35	0	G	NM_004729		2407851	-1	tier1	-	no_errors	ENST00000381218	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.996	T	T	2407851	G	T	2407851	3	4	59	1	0	0	0	0	1	0	0	0	17566	1357	47	3	1178	3	ZBED1	23	2407851	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09		2407851	152862709	449	17157											
SHROOM2	357	genome.wustl.edu	37	chrX	9864214	9864214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccggagacggttcacaGctgagcagaaattgaagtcc	12	6	14	9	2	1	4	1	2	0	2	2	6	2	4	2	3	2	3	2	3	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:9864214G>C	ENST00000380913.3	+	4	2356	c.2266G>C	c.(2266-2268)Gct>Cct	p.A756P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	756	ASD1. {ECO:0000255|PROSITE- ProRule:PRU00637}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ACGGTTCACAGCTGAGCAGAA	0.632																																																	0													19	17	17					X																	9864214		2202	4298	6500	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2266G>C	X.37:g.9864214G>C	ENSP00000370299:p.Ala756Pro		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A756P	ENST00000380913.3	37	c.2266	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651638	0.47362	.	.	ENSG00000146950	ENST00000380913	T	0.45276	0.9	5.04	5.04	0.67666	Apx/shroom, ASD1 (2);	0.330672	0.31872	N	0.006925	T	0.48995	0.1531	L	0.43152	1.355	0.54753	D	0.999986	D	0.65815	0.995	D	0.63283	0.913	T	0.42732	-0.9434	10	0.34782	T	0.22	-8.7163	8.312	0.32077	0.1905:0.0:0.8095:0.0	.	756	Q13796	SHRM2_HUMAN	P	756	ENSP00000370299:A756P	ENSP00000370299:A756P	A	+	1	0	SHROOM2	9824214	0.076000	0.21285	0.004000	0.12327	0.475000	0.33008	2.530000	0.45641	2.098000	0.63641	0.600000	0.82982	GCT	SHROOM2	-	pfam_ASD1	ENSG00000146950		0.632	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	57	0	G	NM_001649		9864214	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	39.22	31	20	SNP	0.183	C	C	9864214	G	C	9864214	3	2	59	1	0	0	0	0	1	0	0	0	14339	971	34	5	2280	5	SHROOM2	23	9864214	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7456363	9864214	145406346	450	17158											
WWC3	55841	genome.wustl.edu	37	chrX	10096179	10096179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccgggaccctgcacacaCcatctccatctccggcaaga	9	5	8	19	3	2	1	0	0	2	1	4	2	2	2	5	2	1	2	5	2	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:10096179C>T	ENST00000380861.4	+	16	2649	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I	WWC3_ENST00000454666.1_Missense_Mutation_p.T753I	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	753					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTGCACACACCATCTCCATC	0.602																																																	0													51	46	48					X																	10096179		2203	4300	6503	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"WW, C2 and coiled-coil domain containing"	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2258C>T	X.37:g.10096179C>T	ENSP00000370242:p.Thr753Ile		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_dom	p.T753I	ENST00000380861.4	37	c.2258	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	C	5.936	0.356813	0.11239	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.05025	3.51;3.51	3.32	1.32	0.21799	.	2.302670	0.01865	N	0.036846	T	0.04182	0.0116	N	0.12182	0.205	0.09310	N	1	B	0.26195	0.144	B	0.26614	0.071	T	0.36114	-0.9761	9	.	.	.	-0.7009	3.1842	0.06594	0.2576:0.5919:0.0:0.1505	.	753	Q9ULE0	WWC3_HUMAN	I	753;753;248	ENSP00000370242:T753I;ENSP00000399584:T753I	.	T	+	2	0	WWC3	10056179	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.123000	0.15708	0.605000	0.29947	-0.713000	0.03633	ACC	WWC3	-	NULL	ENSG00000047644		0.602	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	-	0	46	0	C	NM_015691		10096179	1	tier1	-	no_errors	ENST00000380861	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.001	T	T	10096179	C	T	10096179	3	4	59	1	0	0	0	0	1	0	0	0	17462	507	18	3	2316	3	WWC3	23	10096179	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	231965	10096179	145174381	451	17159											
MID1	4281	genome.wustl.edu	37	chrX	10437871	10437871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttctctaattgtgggaGggttgggagctgtgggggtc	4	13	18	6	0	2	0	0	0	2	0	4	2	2	2	0	5	1	3	0	5	1	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:10437871G>T	ENST00000317552.4	-	7	1551	c.1151C>A	c.(1150-1152)cCt>cAt	p.P384H	MID1_ENST00000380779.1_Missense_Mutation_p.P384H|MID1_ENST00000380780.1_Missense_Mutation_p.P384H|MID1_ENST00000380787.1_Missense_Mutation_p.P384H|MID1_ENST00000453318.2_Missense_Mutation_p.P384H|MID1_ENST00000380782.2_Missense_Mutation_p.P384H|MID1_ENST00000380785.1_Missense_Mutation_p.P384H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	384	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AATTGTGGGAGGGTTGGGAGC	0.498																																																	0													125	99	108					X																	10437871		2203	4300	6503	SO:0001583	missense	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7095	protein-coding gene	gene with protein product	"Opitz/BBB syndrome"	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1151C>A	X.37:g.10437871G>T	ENSP00000312678:p.Pro384His		B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.P384H	ENST00000317552.4	37	c.1151	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438138	0.83885	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.46	5.46	0.80206	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.186004	0.47852	D	0.000202	T	0.59183	0.2175	L	0.40543	1.245	0.54753	D	0.99998	P;P;P	0.45768	0.468;0.468;0.866	P;P;P	0.58331	0.628;0.628;0.837	T	0.59101	-0.7517	10	0.52906	T	0.07	.	18.4718	0.90777	0.0:0.0:1.0:0.0	.	384;384;334	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	H	384;384;384;384;384;384;384;334;384	ENSP00000414521:P384H;ENSP00000312678:P384H;ENSP00000370162:P384H;ENSP00000370156:P384H;ENSP00000370164:P384H;ENSP00000370157:P384H;ENSP00000370159:P384H;ENSP00000391154:P384H	ENSP00000312678:P384H	P	-	2	0	MID1	10397871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.218000	0.95166	2.304000	0.77564	0.600000	0.82982	CCT	MID1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000101871		0.498	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	-	0	11	0	G			10437871	-1	tier1	-	no_errors	ENST00000317552	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	T	T	10437871	G	T	10437871	3	4	59	1	0	0	0	0	1	0	0	0	9614	1000	35	3	868	3	MID1	23	10437871	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	341692	10437871	144832689	452	17160											
PHEX	5251	genome.wustl.edu	37	chrX	22151693	22151693	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttattgacatgctagagaaAgaaaatgagtggatggatgc	15	11	12	3	0	0	4	0	2	0	2	0	7	0	6	0	2	2	1	0	2	5	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:22151693A>G	ENST00000379374.4	+	12	1921	c.1356A>G	c.(1354-1356)aaA>aaG	p.K452K	PHEX_ENST00000535894.1_Silent_p.K355K|PHEX_ENST00000537599.1_Silent_p.K452K|PHEX_ENST00000418858.3_Silent_p.K155K	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	452					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGCTAGAGAAAGAAAATGAGT	0.403																																																	0													134	114	121					X																	22151693		2203	4300	6503	SO:0001819	synonymous_variant	0			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1356A>G	X.37:g.22151693A>G			O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.K452	ENST00000379374.4	37	c.1356	CCDS14204.1	X																																																																																			PHEX	-	pfam_Peptidase_M13_N	ENSG00000102174		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	-	0	32	0	A	NM_000444		22151693	1	tier1	-	no_errors	ENST00000379374	ensembl	human	known	74_37	silent	42.86	24	18	SNP	1.000	G	G	22151693	A	G	22151693	2	3	59	1	0	0	0	0	0	0	0	1	11858	69	3	4		4	PHEX	23	22151693	Silent	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	11713822	22151693	133118867	453	17161											
FAM47C	442444	genome.wustl.edu	37	chrX	37028366	37028366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctcctgagactggagtgtCccatctccgcccagagcctc	6	8	10	17	1	1	2	0	1	1	2	5	4	3	3	6	1	1	0	6	1	0	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:37028366C>T	ENST00000358047.3	+	1	1935	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	628										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ACTGGAGTGTCCCATCTCCGC	0.642																																																	0													29	33	32					X																	37028366		2195	4285	6480	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1883C>T	X.37:g.37028366C>T	ENSP00000367913:p.Ser628Phe		Q6ZU46	Missense_Mutation	SNP	NULL	p.S628F	ENST00000358047.3	37	c.1883	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	-	13.00	2.105227	0.37145	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	1.67	-1.65	0.08291	.	.	.	.	.	T	0.40171	0.1106	M	0.81341	2.54	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.20672	-1.0268	9	0.52906	T	0.07	.	4.2479	0.10680	0.0:0.5847:0.233:0.1823	.	628	Q5HY64	FA47C_HUMAN	F	628	ENSP00000367913:S628F	ENSP00000367913:S628F	S	+	2	0	FAM47C	36938287	0.000000	0.05858	0.002000	0.10522	0.165000	0.22458	0.162000	0.16501	-0.706000	0.05028	0.414000	0.27820	TCC	FAM47C	-	NULL	ENSG00000198173		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0	115	0	C	NM_001013736		37028366	1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	44.21	53	42	SNP	0.008	T	T	37028366	C	T	37028366	3	4	59	1	0	0	0	0	1	0	0	0	5593	855	30	3	1885	3	FAM47C	23	37028366	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	14876673	37028366	118242194	454	17162											
NDP	4693	genome.wustl.edu	37	chrX	43809159	43809159	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttggaagtctggggccgGcagcagtgacaggaggaacg	10	5	18	8	2	1	1	0	1	1	0	1	4	1	4	1	6	3	3	1	6	2	1	rs104894877		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:43809159G>T	ENST00000378062.5	-	3	695	c.288C>A	c.(286-288)tgC>tgA	p.C96*	NDP-AS1_ENST00000435093.1_RNA|NDP_ENST00000470584.1_5'UTR	NM_000266.3	NP_000257.1	Q00604	NDP_HUMAN	Norrie disease (pseudoglioma)	96	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.		C -> W (in ND). {ECO:0000269|PubMed:10484772}.|C -> Y (in ND). {ECO:0000269|PubMed:10544980, ECO:0000269|PubMed:1303264, ECO:0000269|PubMed:1307245}.|HCC -> QCGL (in ND).		canonical Wnt signaling pathway (GO:0060070)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extracellular matrix-cell signaling (GO:0035426)|nervous system development (GO:0007399)|placenta development (GO:0001890)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|vacuole organization (GO:0007033)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	frizzled binding (GO:0005109)|growth factor activity (GO:0008083)|protein homodimerization activity (GO:0042803)			kidney(1)|lung(2)	3						TCTGGGGCCGGCAGCAGTGAC	0.637											OREG0019744	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CM992191	NDP	M	rs104894877						52	36	41					X																	43809159		2202	4298	6500	SO:0001587	stop_gained	0			X65882	CCDS14262.1	Xp11.4-p11.3	2013-02-26			ENSG00000124479	ENSG00000124479		"Endogenous ligands"	7678	protein-coding gene	gene with protein product		300658	"exudative vitreoretinopathy 2 (X-linked)"	EVR2		8252044	Standard	NM_000266		Approved	norrin	uc004dga.3	Q00604	OTTHUMG00000021391	ENST00000378062.5:c.288C>A	X.37:g.43809159G>T	ENSP00000367301:p.Cys96*	919	B2R8K6|Q5JYH5	Nonsense_Mutation	SNP	pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis	p.C96*	ENST00000378062.5	37	c.288	CCDS14262.1	X	.	.	.	.	.	.	.	.	.	.	G	40	7.929514	0.98565	.	.	ENSG00000124479	ENST00000378062	.	.	.	5.96	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.217	11.9628	0.53017	0.1428:0.0:0.8572:0.0	.	.	.	.	X	96	.	ENSP00000367301:C96X	C	-	3	2	NDP	43694103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.760000	0.38430	0.663000	0.31027	0.600000	0.82982	TGC	NDP	-	pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis	ENSG00000124479		0.637	NDP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDP	HGNC	protein_coding	OTTHUMT00000056309.1		0	62	0	G	NM_000266		43809159	-1			no_errors	ENST00000378062	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	1.000	T	T	43809159	G	T	43809159	4	4	59	1	0	0	0	0	0	1	0	0	10289	1195	42	3	117	3	NDP	23	43809159	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	6780793	43809159	111461401	455	17163											
SLC9A7	84679	genome.wustl.edu	37	chrX	46522028	46522028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctctccaaaaagaagtgCgtaaagatccacgtctgcat	13	9	8	11	2	2	2	0	0	2	2	5	2	4	2	2	0	2	3	2	0	5	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:46522028C>T	ENST00000328306.4	-	6	869	c.844G>A	c.(844-846)Gca>Aca	p.A282T		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	282					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AAAAGAAGTGCGTAAAGATCC	0.438																																					Pancreas(118;454 1696 1930 13865 39976)												0													114	85	94					X																	46522028		2203	4300	6503	SO:0001583	missense	0			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"Solute carriers"	17123	protein-coding gene	gene with protein product		300368	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 7", "solute carrier family 9 (sodium/hydrogen exchanger), member 7"			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.844G>A	X.37:g.46522028C>T	ENSP00000330320:p.Ala282Thr		O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.A282T	ENST00000328306.4	37	c.844	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353124	0.82132	.	.	ENSG00000065923	ENST00000328306	T	0.13089	2.62	5.09	5.09	0.68999	Cation/H+ exchanger (1);	0.100915	0.64402	D	0.000002	T	0.12646	0.0307	N	0.20986	0.625	0.80722	D	1	P;P	0.49307	0.891;0.922	P;P	0.45971	0.499;0.474	T	0.12372	-1.0550	10	0.10111	T	0.7	.	17.8859	0.88854	0.0:1.0:0.0:0.0	.	53;282	B3KPP8;Q96T83	.;SL9A7_HUMAN	T	282	ENSP00000330320:A282T	ENSP00000330320:A282T	A	-	1	0	SLC9A7	46406972	1.000000	0.71417	0.949000	0.38748	0.947000	0.59692	5.605000	0.67634	2.244000	0.73946	0.600000	0.82982	GCA	SLC9A7	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000065923		0.438	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	-	0	16	0	C	NM_032591		46522028	-1	tier1	-	no_errors	ENST00000328306	ensembl	human	known	74_37	missense	71.43	4	10	SNP	1.000	T	T	46522028	C	T	46522028	3	4	59	1	0	0	0	0	1	0	0	0	14764	768	27	1	1381	1	SLC9A7	23	46522028	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	2712869	46522028	108748532	456	17164											
ARAF	369	genome.wustl.edu	37	chrX	47426460	47426460	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgtgtcctcggggaggaAgtccccacattccaagtcac	9	7	11	14	2	1	0	1	0	0	0	5	2	4	2	4	3	1	0	4	3	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:47426460A>C	ENST00000377045.4	+	9	997	c.803A>C	c.(802-804)aAg>aCg	p.K268T	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	268					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TCGGGGAGGAAGTCCCCACAT	0.612																																																	0													34	32	33					X																	47426460		2203	4300	6503	SO:0001583	missense	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.803A>C	X.37:g.47426460A>C	ENSP00000366244:p.Lys268Thr		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.K268T	ENST00000377045.4	37	c.803	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	a	13.85	2.359393	0.41801	.	.	ENSG00000078061	ENST00000377045	T	0.74737	-0.87	5.64	5.64	0.86602	.	0.527843	0.21734	N	0.069935	T	0.63414	0.2509	L	0.48362	1.52	0.80722	D	1	P;B	0.37864	0.61;0.029	B;B	0.29353	0.101;0.017	T	0.63812	-0.6552	10	0.35671	T	0.21	.	11.0737	0.48019	1.0:0.0:0.0:0.0	.	268;134	P10398;B4DV85	ARAF_HUMAN;.	T	268	ENSP00000366244:K268T	ENSP00000366244:K268T	K	+	2	0	ARAF	47311404	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.197000	0.42696	1.886000	0.54624	0.341000	0.21757	AAG	ARAF	-	NULL	ENSG00000078061		0.612	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	-	0	33	0	A			47426460	1	tier1	-	no_errors	ENST00000377045	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	C	C	47426460	A	C	47426460	3	2	59	1	0	0	0	0	1	0	0	0	837	72	3	4	833	4	ARAF	23	47426460	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	904432	47426460	107844100	457	17165											
SYN1	6853	genome.wustl.edu	37	chrX	47435959	47435959	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttggcatcgatgaaGggctcggcagtggcatacgt	9	11	13	8	3	1	1	1	1	0	0	3	2	1	1	0	4	1	4	0	4	3	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:47435959G>T	ENST00000295987.7	-	7	1042	c.918C>A	c.(916-918)ccC>ccA	p.P306P	SYN1_ENST00000340666.4_Silent_p.P306P	NM_006950.3	NP_008881.2	P17600	SYN1_HUMAN	synapsin I	306	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of neurotransmitter secretion (GO:0046928)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						CATCGATGAAGGGCTCGGCAG	0.557																																																	0													187	127	147					X																	47435959		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14280.1, CCDS35233.1	Xp11.2	2012-10-02			ENSG00000008056	ENSG00000008056			11494	protein-coding gene	gene with protein product		313440					Standard	NM_133499		Approved		uc004die.3	P17600	OTTHUMG00000021454	ENST00000295987.7:c.918C>A	X.37:g.47435959G>T			B1AJQ1|O75825|Q5H9A9	Silent	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin	p.P306	ENST00000295987.7	37	c.918	CCDS14280.1	X																																																																																			SYN1	-	pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type	ENSG00000008056		0.557	SYN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYN1	HGNC	protein_coding	OTTHUMT00000056445.1	-	0	54	0	G	NM_006950		47435959	-1	tier1	-	no_errors	ENST00000295987	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T	T	47435959	G	T	47435959	2	4	59	1	0	0	0	0	0	0	0	1	15487	987	35	3		3	SYN1	23	47435959	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	9499	47435959	107834601	458	17166											
IQSEC2	23096	genome.wustl.edu	37	chrX	53263497	53263497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggcgtgcagcgggccatgGggggaggtgggtggaagggg	6	4	26	5	2	0	0	0	0	0	0	0	3	0	2	1	10	2	1	1	10	1	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:53263497G>A	ENST00000375368.5	-	14	4541	c.4341C>T	c.(4339-4341)ccC>ccT	p.P1447P	IQSEC2_ENST00000396435.3_Silent_p.P1457P|IQSEC2_ENST00000375365.2_3'UTR			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1447	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCGGGCCATggggggaggtgg	0.677																																																	0													1	1	1					X																	53263497		226	486	712	SO:0001819	synonymous_variant	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.4341C>T	X.37:g.53263497G>A			B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.P1457	ENST00000375368.5	37	c.4371		X																																																																																			IQSEC2	-	NULL	ENSG00000124313		0.677	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		-	0	8	0	G	XM_291345		53263497	-1	tier1	-	no_errors	ENST00000396435	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.993	A	A	53263497	G	A	53263497	2	1	59	1	0	0	0	0	0	0	0	1	7845	1219	43	3		3	IQSEC2	23	53263497	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5827538	53263497	102007063	459	17167											
RIBC1	158787	genome.wustl.edu	37	chrX	53457373	53457373	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgggcgtcagcgctgTgagcgtcagcgtgaacagaa	9	6	16	10	4	2	3	2	2	0	1	2	3	2	3	0	2	4	2	0	2	2	0			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:53457373T>C	ENST00000375327.3	+	7	846	c.693T>C	c.(691-693)tgT>tgC	p.C231C	RIBC1_ENST00000414955.2_Silent_p.C116C|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	231										lung(2)	2						GTCAGCGCTGTGAGCGTCAGC	0.607																																																	0													36	27	30					X																	53457373		2202	4297	6499	SO:0001819	synonymous_variant	0			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.693T>C	X.37:g.53457373T>C			B4E297|E9PDU2|Q5H931|Q96A80	Silent	SNP	pfam_RIB43A	p.C231	ENST00000375327.3	37	c.693	CCDS35299.1	X																																																																																			RIBC1	-	pfam_RIB43A	ENSG00000158423		0.607	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	-	0	10	0	T	NM_144968		53457373	1	tier1	-	no_errors	ENST00000375327	ensembl	human	known	74_37	silent	40.00	15	10	SNP	0.002	C	C	53457373	T	C	53457373	2	2	59	1	0	0	0	0	0	0	0	1	13397	1702	59	4		4	RIBC1	23	53457373	Silent	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	193876	53457373	101813187	460	17168											
HUWE1	10075	genome.wustl.edu	37	chrX	53575167	53575167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggctacaggccttattgCccctttcccgatcactctca	7	12	7	15	1	2	0	2	0	1	0	4	1	3	0	4	2	2	1	4	2	2	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:53575167C>T	ENST00000342160.3	-	67	10560	c.10103G>A	c.(10102-10104)gGc>gAc	p.G3368D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G3368D|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3368					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCCTTATTGCCCCTTTCCCG	0.512																																																	0													76	48	58					X																	53575167		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.10103G>A	X.37:g.53575167C>T	ENSP00000340648:p.Gly3368Asp		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.G3368D	ENST00000342160.3	37	c.10103	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417116	0.25552	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37915	1.17;1.17	5.75	5.75	0.90469	.	0.632453	0.16022	N	0.233253	T	0.30510	0.0767	L	0.29908	0.895	0.32753	N	0.506155	B;B	0.22414	0.041;0.069	B;B	0.24006	0.037;0.05	T	0.27468	-1.0073	10	0.17832	T	0.49	.	17.639	0.88130	0.0:1.0:0.0:0.0	.	3368;3352	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	D	3368	ENSP00000340648:G3368D;ENSP00000262854:G3368D	ENSP00000262854:G3368D	G	-	2	0	HUWE1	53591892	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	3.884000	0.56175	2.437000	0.82529	0.529000	0.55759	GGC	HUWE1	-	NULL	ENSG00000086758		0.512	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	36	0	C	XM_497119		53575167	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	T	T	53575167	C	T	53575167	3	4	59	1	0	0	0	0	1	0	0	0	7488	739	26	3	3089	3	HUWE1	23	53575167	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	117794	53575167	101695393	461	17169											
HUWE1	10075	genome.wustl.edu	37	chrX	53596600	53596600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttctctgtactctcaGccatagccagtgcccgtcca	7	12	7	15	1	2	0	1	0	2	0	5	0	3	0	4	0	4	2	4	0	2	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:53596600G>T	ENST00000342160.3	-	47	6957	c.6500C>A	c.(6499-6501)gCt>gAt	p.A2167D	HUWE1_ENST00000262854.6_Missense_Mutation_p.A2167D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2167					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTACTCTCAGCCATAGCCAG	0.522																																																	0													123	114	117					X																	53596600		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6500C>A	X.37:g.53596600G>T	ENSP00000340648:p.Ala2167Asp		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A2167D	ENST00000342160.3	37	c.6500	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502980	0.64298	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.37235	1.21;1.21	5.24	5.24	0.73138	Armadillo-like helical (1);	0.224065	0.38381	N	0.001716	T	0.20088	0.0483	N	0.03608	-0.345	0.51233	D	0.999911	B;B	0.25609	0.079;0.13	B;B	0.29598	0.029;0.104	T	0.11275	-1.0594	10	0.20046	T	0.44	.	16.6657	0.85253	0.0:0.0:1.0:0.0	.	2167;2167	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	D	2167	ENSP00000340648:A2167D;ENSP00000262854:A2167D	ENSP00000262854:A2167D	A	-	2	0	HUWE1	53613325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.395000	0.97266	2.194000	0.70268	0.513000	0.50165	GCT	HUWE1	-	NULL	ENSG00000086758		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	29	0	G	XM_497119		53596600	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	53596600	G	T	53596600	3	4	59	1	0	0	0	0	1	0	0	0	7488	971	34	3	6772	3	HUWE1	23	53596600	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	21433	53596600	101673960	462	17170											
HUWE1	10075	genome.wustl.edu	37	chrX	53658551	53658551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatgtgaatataatgtaGtgtgttactagttgtctaaa	12	17	8	4	0	2	1	0	1	2	0	2	1	2	1	0	0	1	3	0	0	9	8			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:53658551G>T	ENST00000342160.3	-	9	1118	c.661C>A	c.(661-663)Cta>Ata	p.L221I	HUWE1_ENST00000218328.8_Missense_Mutation_p.L221I|HUWE1_ENST00000262854.6_Missense_Mutation_p.L221I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	221					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATATAATGTAGTGTGTTACTA	0.383																																																	0													87	85	86					X																	53658551		2201	4300	6501	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.661C>A	X.37:g.53658551G>T	ENSP00000340648:p.Leu221Ile		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.L221I	ENST00000342160.3	37	c.661	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876276	0.33162	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.47869	1.1;1.1;0.83	4.86	4.86	0.63082	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.093245	0.44688	D	0.000425	T	0.33440	0.0863	L	0.28400	0.85	0.53005	D	0.999969	B	0.33777	0.425	B	0.28385	0.089	T	0.12451	-1.0547	10	0.14656	T	0.56	.	15.8226	0.78667	0.0:0.0:1.0:0.0	.	221	Q7Z6Z7	HUWE1_HUMAN	I	221	ENSP00000340648:L221I;ENSP00000262854:L221I;ENSP00000218328:L221I	ENSP00000218328:L221I	L	-	1	2	HUWE1	53675276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.064000	0.93933	2.247000	0.74100	0.600000	0.82982	CTA	HUWE1	-	pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold	ENSG00000086758		0.383	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	30	0	G	XM_497119		53658551	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T	T	53658551	G	T	53658551	3	4	59	1	0	0	0	0	1	0	0	0	7488	1020	36	3	12763	3	HUWE1	23	53658551	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	61951	53658551	101612009	463	17171											
SPIN2A	54466	genome.wustl.edu	37	chrX	57162331	57162331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatacacagagggtttggTttccacttggtgaatgacca	12	11	11	7	0	0	3	0	2	0	1	1	4	1	3	2	3	1	2	2	3	3	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:57162331T>C	ENST00000374908.1	-	1	1099	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	SPIN2A_ENST00000374906.3_Missense_Mutation_p.T234A			Q99865	SPI2A_HUMAN	spindlin family, member 2A	234					cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				breast(1)|kidney(1)|ovary(1)	3						GAGGGTTTGGTTTCCACTTGG	0.413													T|||	1	0.000264901	0	0	3775	,	,		15795	0		0	False		,,,				2504	0.001																0													164	136	145					X																	57162331		2201	4291	6492	SO:0001583	missense	0			Y09858	CCDS35312.1	Xp11.1	2008-02-05	2006-12-05	2006-12-05	ENSG00000147059	ENSG00000147059			20694	protein-coding gene	gene with protein product		300621	"spindlin family, member 2"	SPIN2		9271673	Standard	NM_019003		Approved	DXF34	uc004dvb.3	Q99865	OTTHUMG00000022705	ENST00000374908.1:c.700A>G	X.37:g.57162331T>C	ENSP00000364043:p.Thr234Ala		O75650|Q6IPW2|Q9UJJ0	Missense_Mutation	SNP	pfam_Spin_Ssty	p.T234A	ENST00000374908.1	37	c.700	CCDS35312.1	X	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.403561	0.01165	.	.	ENSG00000147059	ENST00000374908;ENST00000374906	T;T	0.38722	1.12;1.12	2.69	1.83	0.25207	.	0.071062	0.53938	N	0.000046	T	0.08492	0.0211	N	0.00237	-1.79	0.21553	N	0.999647	B	0.02656	0.0	B	0.01281	0.0	T	0.40421	-0.9564	10	0.02654	T	1	-1.9066	7.3232	0.26540	0.0:0.8536:0.0:0.1464	.	234	Q99865	SPI2A_HUMAN	A	234	ENSP00000364043:T234A;ENSP00000364041:T234A	ENSP00000364041:T234A	T	-	1	0	SPIN2A	57179056	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	4.578000	0.60929	0.552000	0.29026	-0.452000	0.05504	ACC	SPIN2A	-	pfam_Spin_Ssty	ENSG00000147059		0.413	SPIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2A	HGNC	protein_coding	OTTHUMT00000058915.1		0	47	0	T	NM_019003		57162331	-1			no_errors	ENST00000374906	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C	C	57162331	T	C	57162331	3	2	59	1	0	0	0	0	1	0	0	0	15100	1725	60	4	80	4	SPIN2A	23	57162331	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	3503780	57162331	98108229	464	17172											
ASB12	142689	genome.wustl.edu	37	chrX	63444240	63444240	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggtgttttaggtagctaAtcaacatgggaggaatatcc	11	13	12	5	0	1	0	1	0	0	0	2	2	2	2	1	4	2	4	1	4	6	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:63444240A>C	ENST00000396130.2	-	2	904	c.905T>G	c.(904-906)aTt>aGt	p.I302S	MTMR8_ENST00000453546.1_Missense_Mutation_p.I686S|ASB12_ENST00000362002.2_Missense_Mutation_p.I311S			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	302	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TAGGTAGCTAATCAACATGGG	0.522																																																	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)											153	114	128					X																	63444240		2203	4300	6503	SO:0001583	missense	0			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"Ankyrin repeat domain containing"	19763	protein-coding gene	gene with protein product		300891	"ankyrin repeat and SOCS box-containing 12"			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.905T>G	X.37:g.63444240A>C	ENSP00000379435:p.Ile302Ser		J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I686S	ENST00000396130.2	37	c.2057		X	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002209	0.74932	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.48522	0.81;0.81;0.81	3.9	3.9	0.45041	SOCS protein, C-terminal (2);	0.289414	0.38111	N	0.001805	T	0.54367	0.1854	M	0.68593	2.085	0.26426	N	0.976023	D;D	0.59767	0.986;0.96	P;P	0.54815	0.761;0.679	T	0.48068	-0.9067	10	0.18276	T	0.48	-13.7881	11.4528	0.50162	1.0:0.0:0.0:0.0	.	686;302	B4DQL0;Q8WXK4	.;ASB12_HUMAN	S	311;302;279;686	ENSP00000355195:I311S;ENSP00000379435:I302S;ENSP00000394003:I686S	ENSP00000354626:I279S	I	-	2	0	ASB12;MTMR8	63360965	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.804000	0.38873	1.762000	0.52044	0.430000	0.28490	ATT	MTMR8	-	pfam_SOCS_C,smart_SOCS_C	ENSG00000102043		0.522	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	MTMR8	HGNC	protein_coding		-	0	50	0	A			63444240	-1	tier1	-	no_errors	ENST00000453546	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	C	C	63444240	A	C	63444240	3	2	59	1	0	0	0	0	1	0	0	0	1017	101	4	4	28	4	ASB12	23	63444240	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	6281909	63444240	91826320	465	17173											
OTUD6A	139562	genome.wustl.edu	37	chrX	69283089	69283089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgaggtgatccaggccGactcgcccaccttgatcatc	8	8	9	16	3	1	2	1	2	0	0	5	4	2	2	5	2	0	0	5	2	0	1	rs142480469		TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:69283089G>T	ENST00000338352.2	+	1	749	c.715G>T	c.(715-717)Gac>Tac	p.D239Y		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	239	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GATCCAGGCCGACTCGCCCAC	0.622																																																	0													72	58	63					X																	69283089		2203	4300	6503	SO:0001583	missense	0			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"OTU domain containing"	32312	protein-coding gene	gene with protein product		300714	"OTU domain containing 6A"			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.715G>T	X.37:g.69283089G>T	ENSP00000339389:p.Asp239Tyr		B2RPB7	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.D239Y	ENST00000338352.2	37	c.715	CCDS14395.1	X	.	.	.	.	.	.	.	.	.	.	G	8.277	0.814582	0.16607	.	.	ENSG00000189401	ENST00000338352	T	0.52295	0.67	4.42	-1.82	0.07857	Ovarian tumour, otubain (2);	0.520280	0.20572	N	0.089701	T	0.30479	0.0766	L	0.41710	1.295	0.09310	N	1	B	0.13145	0.007	B	0.20577	0.03	T	0.11690	-1.0577	10	0.42905	T	0.14	.	3.3329	0.07091	0.3014:0.1087:0.4781:0.1118	.	239	Q7L8S5	OTU6A_HUMAN	Y	239	ENSP00000339389:D239Y	ENSP00000339389:D239Y	D	+	1	0	OTUD6A	69199814	0.276000	0.24211	0.000000	0.03702	0.004000	0.04260	1.029000	0.30140	-0.923000	0.03785	-0.905000	0.02835	GAC	OTUD6A	-	pfam_OTU,pfscan_OTU	ENSG00000189401		0.622	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD6A	HGNC	protein_coding	OTTHUMT00000358763.1	-	0	21	0	G	NM_207320		69283089	1	tier1	-	no_errors	ENST00000338352	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.000	T	T	69283089	G	T	69283089	3	4	59	1	0	0	0	0	1	0	0	0	11355	1058	37	2	717	2	OTUD6A	23	69283089	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5838849	69283089	85987471	466	17174											
OGT	8473	genome.wustl.edu	37	chrX	70767756	70767756	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcattaacccctcctaaGgcatgttatttgaaagcaat	12	14	5	10	0	1	1	1	1	0	0	2	1	2	1	3	1	2	3	3	1	5	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:70767756G>T	ENST00000373719.3	+	5	748		c.e5-1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CCCCTCCTAAGGCATGTTATT	0.438																																																	0													125	118	120					X																	70767756		2203	4300	6503	SO:0001630	splice_region_variant	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.532-1G>T	X.37:g.70767756G>T			Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Splice_Site	SNP	-	e5-1	ENST00000373719.3	37	c.532-1	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	g	21.0	4.085627	0.76642	.	.	ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000455587	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1634	0.86809	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OGT	70684481	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.652000	0.98499	2.232000	0.73038	0.591000	0.81541	.	OGT	-	-	ENSG00000147162		0.438	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	-	0	52	0	G	NM_003605, NM_181672	Intron	70767756	1	tier1	-	no_errors	ENST00000373719	ensembl	human	known	74_37	splice_site	9.43	48	5	SNP	1.000	T	T	70767756	G	T	70767756	5	4	59	1	0	0	0	0	0	0	1	0	10886	1014	35	3	549	3	OGT	23	70767756	Splice_Site	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	1484667	70767756	84502804	467	17175											
ZCCHC5	203430	genome.wustl.edu	37	chrX	77912922	77912922	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaccctccccttggcaGagttgatggatgcactggtt	8	11	11	11	0	0	3	0	2	0	1	1	4	1	4	3	3	1	4	3	3	0	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:77912922G>T	ENST00000321110.1	-	2	1291	c.996C>A	c.(994-996)ctC>ctA	p.L332L		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	332							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCCCTTGGCAGAGTTGATGGA	0.468																																																	0													73	61	65					X																	77912922		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.996C>A	X.37:g.77912922G>T			B2RMZ0|Q5JQE9	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.L332	ENST00000321110.1	37	c.996	CCDS14440.1	X																																																																																			ZCCHC5	-	NULL	ENSG00000179300		0.468	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0	54	0	G	NM_152694		77912922	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.170	T	T	77912922	G	T	77912922	2	4	59	1	0	0	0	0	0	0	0	1	17639	929	33	3		3	ZCCHC5	23	77912922	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	7145166	77912922	77357638	468	17176											
BRWD3	254065	genome.wustl.edu	37	chrX	79939516	79939516	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaataatcatacccttgacTttttattagaggtataagct	13	16	5	7	0	1	2	1	1	0	1	1	2	1	2	1	1	2	2	1	1	7	10			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:79939516T>C	ENST00000373275.4	-	37	4442	c.4226A>G	c.(4225-4227)aAg>aGg	p.K1409R	BRWD3_ENST00000473691.1_Intron	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1409	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACCCTTGACTTTTTATTAGA	0.338																																																	0													81	78	79					X																	79939516		2202	4299	6501	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4226A>G	X.37:g.79939516T>C	ENSP00000362372:p.Lys1409Arg		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.K1409R	ENST00000373275.4	37	c.4226	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	6.850	0.526146	0.13066	.	.	ENSG00000165288	ENST00000373275	T	0.18657	2.2	4.66	4.66	0.58398	Bromodomain (6);	0.046313	0.85682	D	0.000000	T	0.10723	0.0262	N	0.05280	-0.08	0.46011	D	0.998818	B	0.16603	0.018	B	0.20184	0.028	T	0.16041	-1.0416	9	.	.	.	-6.3035	13.347	0.60580	0.0:0.0:0.0:1.0	.	1409	Q6RI45	BRWD3_HUMAN	R	1409	ENSP00000362372:K1409R	.	K	-	2	0	BRWD3	79826172	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.525000	0.81892	1.722000	0.51474	0.408000	0.27601	AAG	BRWD3	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000165288		0.338	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0	75	0	T	NM_153252		79939516	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	missense	37.04	51	30	SNP	1.000	C	C	79939516	T	C	79939516	3	2	59	1	0	0	0	0	1	0	0	0	1530	1609	56	4	1202	4	BRWD3	23	79939516	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	2026594	79939516	75331044	469	17177											
BRWD3	254065	genome.wustl.edu	37	chrX	79947627	79947627	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catatcccatgggctcatctTttctctctcattattgtccc	6	17	4	14	0	4	0	2	0	3	0	8	0	6	0	2	1	0	1	2	1	2	5			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:79947627T>A	ENST00000373275.4	-	29	3502	c.3286A>T	c.(3286-3288)Aag>Tag	p.K1096*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1096					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GGGCTCATCTTTTCTCTCTCA	0.289																																																	0													62	60	61					X																	79947627		2203	4294	6497	SO:0001587	stop_gained	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3286A>T	X.37:g.79947627T>A	ENSP00000362372:p.Lys1096*		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.K1096*	ENST00000373275.4	37	c.3286	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	44	10.733105	0.99458	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.71	4.71	0.59529	.	0.047819	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.9674	13.3937	0.60838	0.0:0.0:0.0:1.0	.	.	.	.	X	1096	.	.	K	-	1	0	BRWD3	79834283	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.678000	0.68153	1.734000	0.51633	0.481000	0.45027	AAG	BRWD3	-	NULL	ENSG00000165288		0.289	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	-	0	29	0	T	NM_153252		79947627	-1	tier1	-	no_errors	ENST00000373275	ensembl	human	known	74_37	nonsense	45.45	24	20	SNP	1.000	A	A	79947627	T	A	79947627	4	1	59	1	0	0	0	0	0	1	0	0	1530	1850	64	5	2174	5	BRWD3	23	79947627	Nonsense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	8111	79947627	75322933	470	17178											
NAP1L3	4675	genome.wustl.edu	37	chrX	92928150	92928150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgccgctgctgctgccacTagtgctgctgctgctgctgc	2	11	13	15	1	0	0	0	0	0	0	0	0	0	0	2	0	10	9	2	0	1	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:92928150T>C	ENST00000373079.3	-	1	417	c.154A>G	c.(154-156)Agt>Ggt	p.S52G	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.S45G|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	52	Ser-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						ctgctgccactagtgctgctg	0.587																																																	0													14	14	14					X																	92928150		2186	4252	6438	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.154A>G	X.37:g.92928150T>C	ENSP00000362171:p.Ser52Gly		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.S52G	ENST00000373079.3	37	c.154	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	T	0.581	-0.837114	0.02692	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.36878	1.23	2.53	-0.21	0.13176	.	.	.	.	.	T	0.13841	0.0335	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	9	0.27082	T	0.32	.	0.161	0.00103	0.2321:0.1702:0.2336:0.3641	.	52	Q99457	NP1L3_HUMAN	G	52;45	ENSP00000362171:S52G	ENSP00000362171:S52G	S	-	1	0	NAP1L3	92814806	0.014000	0.17966	0.002000	0.10522	0.034000	0.12701	0.283000	0.18846	-0.119000	0.11830	0.308000	0.20428	AGT	NAP1L3	-	NULL	ENSG00000186310		0.587	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0	64	0	T	NM_004538		92928150	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.006	C	C	92928150	T	C	92928150	3	2	59	1	0	0	0	0	1	0	0	0	10196	1522	53	4	1370	4	NAP1L3	23	92928150	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	12980523	92928150	62342410	471	17179											
MID2	11043	genome.wustl.edu	37	chrX	107159335	107159335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagagaaaagaaactgCtagaggggttagattattta	15	12	10	4	0	0	4	0	0	0	4	1	5	1	4	1	2	2	2	1	2	7	6			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:107159335C>A	ENST00000262843.6	+	6	1725	c.1177C>A	c.(1177-1179)Cta>Ata	p.L393I	MID2_ENST00000443968.2_Missense_Mutation_p.L393I|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	393	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AAAGAAACTGCTAGAGGGGTT	0.318																																																	0													93	96	95					X																	107159335		2202	4300	6502	SO:0001583	missense	0				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1177C>A	X.37:g.107159335C>A	ENSP00000262843:p.Leu393Ile		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L393I	ENST00000262843.6	37	c.1177	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082146	0.55861	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.62105	0.06;0.05	5.23	3.26	0.37387	Fibronectin, type III (1);COS domain (1);	0.084203	0.51477	D	0.000095	T	0.67720	0.2923	M	0.66939	2.045	0.42010	D	0.990938	P;P	0.51351	0.944;0.871	P;P	0.55011	0.752;0.766	T	0.67003	-0.5780	10	0.49607	T	0.09	.	7.5388	0.27727	0.0:0.746:0.0:0.254	.	393;393	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	I	393	ENSP00000262843:L393I;ENSP00000413976:L393I	ENSP00000262843:L393I	L	+	1	2	MID2	107045991	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.093000	0.30939	0.843000	0.35070	0.600000	0.82982	CTA	MID2	-	superfamily_Fibronectin_type3	ENSG00000080561		0.318	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	-	0	21	0	C	NM_012216		107159335	1	tier1	-	no_errors	ENST00000262843	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.999	A	A	107159335	C	A	107159335	3	1	59	1	0	0	0	0	1	0	0	0	9616	796	28	3	1199	3	MID2	23	107159335	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	14231185	107159335	48111225	472	17180											
IL13RA2	3598	genome.wustl.edu	37	chrX	114242551	114242551	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccgtcatctgagcaataaAtattcactttgcttcttact	10	17	4	10	1	4	1	2	1	2	0	5	1	5	1	1	0	3	2	1	0	5	7			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:114242551A>C	ENST00000371936.1	-	9	1190	c.941T>G	c.(940-942)aTt>aGt	p.I314S	IL13RA2_ENST00000243213.1_Missense_Mutation_p.I314S			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	314	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGAGCAATAAATATTCACTTT	0.368																																																	0													241	203	216					X																	114242551		2203	4300	6503	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.941T>G	X.37:g.114242551A>C	ENSP00000361004:p.Ile314Ser		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.I314S	ENST00000371936.1	37	c.941	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	a	5.872	0.344996	0.11126	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	T;T	0.68624	-0.34;-0.34	4.1	4.1	0.47936	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.511199	0.21884	N	0.067697	T	0.48589	0.1508	L	0.35487	1.065	0.37765	D	0.926453	B	0.14438	0.01	B	0.09377	0.004	T	0.40905	-0.9538	10	0.08381	T	0.77	-10.3879	8.5978	0.33725	1.0:0.0:0.0:0.0	.	314	Q14627	I13R2_HUMAN	S	314	ENSP00000361004:I314S;ENSP00000243213:I314S	ENSP00000243213:I314S	I	-	2	0	IL13RA2	114148807	0.987000	0.35691	0.998000	0.56505	0.970000	0.65996	2.446000	0.44908	1.624000	0.50355	0.438000	0.28831	ATT	IL13RA2	-	superfamily_Fibronectin_type3	ENSG00000123496		0.368	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	-	0	80	0	A	NM_000640		114242551	-1	tier1	-	no_errors	ENST00000243213	ensembl	human	known	74_37	missense	36.90	53	31	SNP	1.000	C	C	114242551	A	C	114242551	3	2	59	1	0	0	0	0	1	0	0	0	7657	101	4	4	213	4	IL13RA2	23	114242551	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	7083216	114242551	41028009	473	17181											
RHOXF2	84528	genome.wustl.edu	37	chrX	119293306	119293306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcgcattttccaacgCgagcagttccccagtgagtt	8	10	11	12	3	0	1	0	1	0	0	2	3	2	2	3	1	3	4	3	1	1	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:119293306C>T	ENST00000371388.3	+	2	655	c.465C>T	c.(463-465)cgC>cgT	p.R155R		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	155					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						TTTTCCAACGCGAGCAGTTCC	0.657																																																	0													36	36	36					X																	119293306		2198	4296	6494	SO:0001819	synonymous_variant	0				CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"Homeoboxes / PRD class"	30011	protein-coding gene	gene with protein product	"cancer/testis antigen 107"	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.465C>T	X.37:g.119293306C>T			Q9BR00	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R155	ENST00000371388.3	37	c.465	CCDS14594.1	X																																																																																			RHOXF2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000131721		0.657	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOXF2	HGNC	protein_coding	OTTHUMT00000411977.1	-	0	83	0	C	NM_032498		119293306	1	tier1	-	no_errors	ENST00000371388	ensembl	human	known	74_37	silent	18.45	84	19	SNP	0.000	T	T	119293306	C	T	119293306	2	4	59	1	0	0	0	0	0	0	0	1	13393	755	27	1		1	RHOXF2	23	119293306	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	5050755	119293306	35977254	474	17182											
ODZ1	10178	genome.wustl.edu	37	chrX	123514857	123514857	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaagtagtgagtgtccctCccctctatggtaaaatgtag	11	12	10	8	0	1	2	0	2	1	0	3	2	3	2	3	1	0	3	3	1	6	4			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:123514857C>A	ENST00000371130.3	-	31	7770	c.7707G>T	c.(7705-7707)ggG>ggT	p.G2569G	TENM1_ENST00000422452.2_Silent_p.G2576G|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2569					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GAGTGTCCCTCCCCTCTATGG	0.488																																																	0													98	78	85					X																	123514857		2203	4300	6503	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7707G>T	X.37:g.123514857C>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.G2576	ENST00000371130.3	37	c.7728	CCDS14609.1	X																																																																																			TENM1	-	NULL	ENSG00000009694		0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	22	0	C	NM_014253		123514857	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	silent	44.74	21	17	SNP	0.925	A	A	123514857	C	A	123514857	2	1	59	1	0	0	0	0	0	0	0	1	10873	842	30	3		3	ODZ1	23	123514857	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	4221551	123514857	31755703	475	17183											
XPNPEP2	7512	genome.wustl.edu	37	chrX	128888489	128888489	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccggtacttggtctggctGgagaagaacgtgcccaaagg	10	8	14	9	2	1	2	0	0	1	2	2	3	2	2	2	5	3	2	2	5	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:128888489G>T	ENST00000371106.3	+	12	1341	c.1149G>T	c.(1147-1149)ctG>ctT	p.L383L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	383						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGGTCTGGCTGGAGAAGAACG	0.607																																																	0													59	39	46					X																	128888489		2200	4295	6495	SO:0001819	synonymous_variant	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1149G>T	X.37:g.128888489G>T			A0AV16|O75994	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.L383	ENST00000371106.3	37	c.1149	CCDS14613.1	X																																																																																			XPNPEP2	-	superfamily_Pept_M24_structural-domain	ENSG00000122121		0.607	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	-	0	57	0	G	NM_003399		128888489	1	tier1	-	no_errors	ENST00000371106	ensembl	human	known	74_37	silent	8.70	41	4	SNP	1.000	T	T	128888489	G	T	128888489	2	4	59	1	0	0	0	0	0	0	0	1	17492	1335	47	3		3	XPNPEP2	23	128888489	Silent	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5373632	128888489	26382071	476	17184											
FAM122B	159090	genome.wustl.edu	37	chrX	133906176	133906176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaaatggttaagtcacttgGgtgagagatcatccatcaag	14	10	11	6	0	3	3	3	1	0	2	4	4	4	3	1	2	0	1	1	2	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:133906176G>T	ENST00000370790.1	-	9	1665	c.737C>A	c.(736-738)cCc>cAc	p.P246H	FAM122B_ENST00000343004.5_Missense_Mutation_p.P265H|FAM122B_ENST00000298090.6_Intron|FAM122B_ENST00000486347.1_Missense_Mutation_p.P247H|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	246										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AAGTCACTTGGGTGAGAGATC	0.438																																																	0													120	94	103					X																	133906176		2203	4300	6503	SO:0001583	missense	0			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.737C>A	X.37:g.133906176G>T	ENSP00000359826:p.Pro246His		A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	NULL	p.P265H	ENST00000370790.1	37	c.794	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277320	0.80580	.	.	ENSG00000156504	ENST00000370790;ENST00000343004;ENST00000486347	.	.	.	5.65	5.65	0.86999	.	0.104028	0.43416	D	0.000564	T	0.77039	0.4072	L	0.59436	1.845	0.58432	D	0.999999	D;D;P	0.89917	1.0;1.0;0.879	D;D;P	0.76575	0.988;0.988;0.459	T	0.79017	-0.1975	9	0.87932	D	0	.	17.633	0.88114	0.0:0.0:1.0:0.0	.	247;246;265	Q7Z309-2;Q7Z309;Q7Z309-3	.;F122B_HUMAN;.	H	246;265;247	.	ENSP00000339207:P265H	P	-	2	0	FAM122B	133733842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.300000	0.65721	2.381000	0.81170	0.600000	0.82982	CCC	FAM122B	-	NULL	ENSG00000156504		0.438	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1		0	23	0	G	NM_145284		133906176	-1			no_errors	ENST00000343004	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	133906176	G	T	133906176	3	4	59	1	0	0	0	0	1	0	0	0	5439	1232	43	3	84	3	FAM122B	23	133906176	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	5017687	133906176	21364384	477	17185											
ZNF75D	7626	genome.wustl.edu	37	chrX	134427910	134427910	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgataacggaagctccAgaagtgcctgcaagcgctct	11	9	10	11	2	2	2	1	1	1	1	3	3	3	3	2	1	5	3	2	1	4	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:134427910A>C	ENST00000370766.3	-	3	2866	c.157T>G	c.(157-159)Tgg>Ggg	p.W53G	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.W53G	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	53	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CGGAAGCTCCAGAAGTGCCTG	0.483																																																	0													91	81	84					X																	134427910		2203	4300	6503	SO:0001583	missense	0			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.157T>G	X.37:g.134427910A>C	ENSP00000359802:p.Trp53Gly		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.W53G	ENST00000370766.3	37	c.157	CCDS14648.1	X	.	.	.	.	.	.	.	.	.	.	A	9.467	1.094688	0.20471	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.03951	3.75;3.75	3.13	-1.79	0.07932	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02455	0.0075	N	0.14661	0.345	0.09310	N	1	B;B	0.32396	0.134;0.369	B;B	0.28011	0.085;0.078	T	0.41716	-0.9493	9	0.87932	D	0	.	2.3893	0.04374	0.3113:0.0:0.2904:0.3983	.	53;53	P51815;A6NK62	ZN75D_HUMAN;.	G	53	ENSP00000359802:W53G;ENSP00000359800:W53G	ENSP00000359800:W53G	W	-	1	0	ZNF75D	134255576	0.991000	0.36638	0.013000	0.15412	0.600000	0.36913	0.001000	0.13038	-0.534000	0.06315	-0.445000	0.05633	TGG	ZNF75D	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000186376		0.483	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	-	0	21	0	A	NM_007131		134427910	-1	tier1	-	no_errors	ENST00000370766	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.011	C	C	134427910	A	C	134427910	3	2	59	1	0	0	0	0	1	0	0	0	18182	188	7	4	1395	4	ZNF75D	23	134427910	Missense_Mutation	SNP	A	TCGA-L5-A4OJ-01A-11D-A27G-09	521734	134427910	20842650	478	17186											
SLC9A6	10479	genome.wustl.edu	37	chrX	135126796	135126796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggggaccatgaactggtCattcgaggaacacgcctggt	9	10	13	9	2	1	1	1	1	0	0	2	4	1	3	2	5	2	0	2	5	2	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:135126796C>T	ENST00000370698.3	+	16	1958	c.1923C>T	c.(1921-1923)gtC>gtT	p.V641V	SLC9A6_ENST00000370701.1_Silent_p.V621V|SLC9A6_ENST00000370695.4_Silent_p.V673V	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	641					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					ATGAACTGGTCATTCGAGGAA	0.483																																																	0													112	96	101					X																	135126796		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1923C>T	X.37:g.135126796C>T			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.V673	ENST00000370698.3	37	c.2019	CCDS14654.1	X																																																																																			SLC9A6	-	NULL	ENSG00000198689		0.483	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	-	0	48	0	C	NM_006359		135126796	1	tier1	-	no_errors	ENST00000370695	ensembl	human	known	74_37	silent	35.48	40	22	SNP	1.000	T	T	135126796	C	T	135126796	2	4	59	1	0	0	0	0	0	0	0	1	14763	813	29	3		3	SLC9A6	23	135126796	Silent	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	698886	135126796	20143764	479	17187											
FGF13	2258	genome.wustl.edu	37	chrX	137715091	137715091	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcttggttggggtcccgcTtccagatcgggagaactccg	5	10	14	12	3	1	2	0	0	1	2	5	3	4	2	3	4	1	3	3	4	1	3			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:137715091T>G	ENST00000315930.6	-	5	1319	c.658A>C	c.(658-660)Agc>Cgc	p.S220R	FGF13_ENST00000541469.1_Missense_Mutation_p.S174R|FGF13_ENST00000305414.4_Missense_Mutation_p.S167R|FGF13_ENST00000370603.3_Missense_Mutation_p.S230R|FGF13_ENST00000441825.2_Missense_Mutation_p.S201R	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	220					cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGGGTCCCGCTTCCAGATCGG	0.522																																																	0													161	126	138					X																	137715091		2203	4300	6503	SO:0001583	missense	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.658A>C	X.37:g.137715091T>G	ENSP00000322390:p.Ser220Arg		B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.S230R	ENST00000315930.6	37	c.688	CCDS14665.1	X	.	.	.	.	.	.	.	.	.	.	T	14.96	2.692361	0.48202	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469	T;T;T;T;T	0.80393	-1.16;-1.3;-1.33;-1.37;-1.31	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.75774	0.3895	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.15141	0.004;0.012;0.003;0.009	B;B;B;B	0.16289	0.005;0.015;0.007;0.013	T	0.71052	-0.4704	10	0.41790	T	0.15	.	14.1997	0.65693	0.0:0.0:0.0:1.0	.	174;230;167;220	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	R	220;167;201;230;174	ENSP00000322390:S220R;ENSP00000303391:S167R;ENSP00000409276:S201R;ENSP00000359635:S230R;ENSP00000437903:S174R	ENSP00000303391:S167R	S	-	1	0	FGF13	137542757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.698000	0.84413	1.952000	0.56665	0.441000	0.28932	AGC	FGF13	-	NULL	ENSG00000129682		0.522	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	HGNC	protein_coding	OTTHUMT00000058534.2	-	0	38	0	T	NM_004114		137715091	-1	tier1	-	no_errors	ENST00000370603	ensembl	human	known	74_37	missense	23.26	33	10	SNP	1.000	G	G	137715091	T	G	137715091	3	3	59	1	0	0	0	0	1	0	0	0	5864	1609	56	4	83	4	FGF13	23	137715091	Missense_Mutation	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	2588295	137715091	17555469	480	17188											
CDR1	1038	genome.wustl.edu	37	chrX	139865773	139865773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaatcagtgtcttccaGaaagaaatccaggtcttcca	13	10	7	11	0	4	2	2	0	2	2	7	2	7	2	3	1	0	0	3	1	3	2			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:139865773G>T	ENST00000370532.2	-	1	950	c.759C>A	c.(757-759)ttC>ttA	p.F253L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	253										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GTGTCTTCCAGAAAGAAATCC	0.413																																																	0													92	91	91					X																	139865773		2203	4299	6502	SO:0001583	missense	0				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"Cerebellar degeneration-related protein-1 (34kD)"	302650	"cerebellar degeneration-related protein (34kD)"	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.759C>A	X.37:g.139865773G>T	ENSP00000359563:p.Phe253Leu		Q5JXH6	Missense_Mutation	SNP	NULL	p.F253L	ENST00000370532.2	37	c.759	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603050	0.28534	.	.	ENSG00000184258	ENST00000370532	.	.	.	2.87	0.917	0.19380	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.20671	0.047	B	0.12156	0.007	T	0.28618	-1.0038	7	.	.	.	.	5.0232	0.14372	0.1313:0.0:0.6635:0.2051	.	253	P51861	CDR1_HUMAN	L	253	.	.	F	-	3	2	CDR1	139693439	0.000000	0.05858	0.015000	0.15790	0.012000	0.07955	0.456000	0.21859	-0.016000	0.14127	-0.567000	0.04161	TTC	CDR1	-	NULL	ENSG00000184258		0.413	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1		0	70	0	G	NM_004065		139865773	-1			no_errors	ENST00000370532	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.026	T	T	139865773	G	T	139865773	3	4	59	1	0	0	0	0	1	0	0	0	3178	933	33	3	33	3	CDR1	23	139865773	Missense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	2150682	139865773	15404787	481	17189											
PRRG3	79057	genome.wustl.edu	37	chrX	150869442	150869442	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgaggaggccagcgtgtcTtacagtgacccacccccaaa	11	6	11	13	1	1	2	0	2	1	0	1	3	1	3	4	2	2	0	4	2	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:150869442T>G	ENST00000370353.3	+	4	1023	c.633T>G	c.(631-633)tcT>tcG	p.S211S	PRRG3_ENST00000538575.1_Silent_p.S211S			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	211						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCGTGTCTTACAGTGACC	0.612																																																	0													98	83	88					X																	150869442		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.633T>G	X.37:g.150869442T>G			A1A523|A1A575|Q8N2N6	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.S211	ENST00000370353.3	37	c.633	CCDS14699.1	X																																																																																			PRRG3	-	NULL	ENSG00000130032		0.612	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	-	0	15	0	T	NM_024082		150869442	1	tier1	-	no_errors	ENST00000370353	ensembl	human	known	74_37	silent	58.82	7	10	SNP	0.860	G	G	150869442	T	G	150869442	2	3	59	1	0	0	0	0	0	0	0	1	12649	1596	56	4		4	PRRG3	23	150869442	Silent	SNP	T	TCGA-L5-A4OJ-01A-11D-A27G-09	11003669	150869442	4401118	482	17190											
FATE1	89885	genome.wustl.edu	37	chrX	150884596	150884596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagctggttgtgatggCaggaggccctcccaacacca	11	6	12	12	0	0	2	0	1	0	1	1	3	1	3	3	4	3	3	3	4	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:150884596C>A	ENST00000370350.3	+	1	90	c.5C>A	c.(4-6)gCa>gAa	p.A2E		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	2						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGTGATGGCAGGAGGCCCT	0.527																																																	0													59	45	50					X																	150884596		2017	3704	5721	SO:0001583	missense	0			AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"cancer/testis antigen 43"	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.5C>A	X.37:g.150884596C>A	ENSP00000359375:p.Ala2Glu			Missense_Mutation	SNP	pfam_FATE/Miff/Tango-11	p.A2E	ENST00000370350.3	37	c.5	CCDS14700.1	X	.	.	.	.	.	.	.	.	.	.	C	14.65	2.600236	0.46423	.	.	ENSG00000147378	ENST00000370350	T	0.59502	0.26	4.18	3.3	0.37823	.	0.429234	0.20041	N	0.100503	T	0.45155	0.1328	L	0.29908	0.895	0.19775	N	0.999955	P	0.47841	0.901	B	0.43052	0.406	T	0.37753	-0.9692	10	0.87932	D	0	.	8.5063	0.33190	0.2284:0.7716:0.0:0.0	.	2	Q969F0	FATE1_HUMAN	E	2	ENSP00000359375:A2E	ENSP00000359375:A2E	A	+	2	0	FATE1	150635252	0.273000	0.24181	0.103000	0.21229	0.699000	0.40488	1.645000	0.37238	1.094000	0.41399	0.600000	0.82982	GCA	FATE1	-	NULL	ENSG00000147378		0.527	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FATE1	HGNC	protein_coding	OTTHUMT00000060885.1	-	0	16	0	C	NM_033085		150884596	1	tier1	-	no_errors	ENST00000370350	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.090	A	A	150884596	C	A	150884596	3	1	59	1	0	0	0	0	1	0	0	0	5715	710	25	3	7	3	FATE1	23	150884596	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	15154	150884596	4385964	483	17191											
GABRE	2564	genome.wustl.edu	37	chrX	151143045	151143045	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggatggagactcacctcGactggaggatcaataagatg	12	7	13	9	2	2	2	2	0	0	2	3	7	2	5	2	4	0	0	2	4	2	1			TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:151143045G>T	ENST00000370328.3	-	1	106	c.53C>A	c.(52-54)tCg>tAg	p.S18*	GABRE_ENST00000370325.1_Nonsense_Mutation_p.S18*|GABRE_ENST00000393914.3_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	18					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACTCACCTCGACTGGAGGAT	0.687																																																	0													60	39	46					X																	151143045		2190	4282	6472	SO:0001587	stop_gained	0			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.53C>A	X.37:g.151143045G>T	ENSP00000359353:p.Ser18*		E7ET93|O15345|O15346|Q6PCD2|Q99520	Nonsense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S18*	ENST00000370328.3	37	c.53	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	g	21.3	4.130186	0.77549	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	.	.	.	3.29	-0.88	0.10610	.	9.065020	0.00166	N	0.000002	.	.	.	.	.	.	0.27545	N	0.950673	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.346	0.07136	0.4373:0.2232:0.3395:0.0	.	.	.	.	X	18	.	ENSP00000359350:S18X	S	-	2	0	GABRE	150893701	0.000000	0.05858	0.023000	0.16930	0.270000	0.26580	0.013000	0.13310	-0.205000	0.10219	-0.351000	0.07748	TCG	GABRE	-	NULL	ENSG00000102287		0.687	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1		0	40	0	G	NM_004961, NM_021990, NM_021984		151143045	-1			no_errors	ENST00000370328	ensembl	human	known	74_37	nonsense	14.81	23	4	SNP	0.003	T	T	151143045	G	T	151143045	4	4	59	1	0	0	0	0	0	1	0	0	6194	1059	37	2	1503	2	GABRE	23	151143045	Nonsense_Mutation	SNP	G	TCGA-L5-A4OJ-01A-11D-A27G-09	258449	151143045	4127515	484	17192											
MAGEA10	4109	genome.wustl.edu	37	chrX	151304073	151304073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcatgcagcgctgaCgctttggagctcgaggcatg	7	9	14	11	3	1	1	1	1	0	0	2	3	1	2	0	3	3	6	0	3	0	2	rs145553450	byFrequency	TCGA-L5-A4OJ-01A-11D-A27G-09	TCGA-L5-A4OJ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	240ae3a5-496b-4240-86ef-c9e428345a77	9cfe6810-0d93-48ff-b2d6-2758e2a7d40f	g.chrX:151304073C>T	ENST00000370323.4	-	4	336	c.20G>A	c.(19-21)cGt>cAt	p.R7H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	7						nucleus (GO:0005634)		p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGCTGACGCTTTGGAGC	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,,HIS/ARG	0,3833		0,0,0,1631,571	86	88	87		20,,20	0.6	0	X	dbSNP_134	87	1,6725		0,0,1,2428,1869	no	missense,intron,missense	MAGEA10,MAGEA10-MAGEA5	NM_001011543.1,NM_001204811.1,NM_021048.3	29,,29	0,0,1,4059,2440	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging,,probably-damaging	7/370,,7/370	151304073	1,10558	2202	4298	6500	SO:0001583	missense	0				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.20G>A	X.37:g.151304073C>T	ENSP00000359347:p.Arg7His			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R7H	ENST00000370323.4	37	c.20	CCDS14705.1	X	.	.	.	.	.	.	.	.	.	.	C	8.597	0.885841	0.17540	0.0	1.49E-4	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	2.54	0.552	0.17230	Melanoma associated antigen, MAGE, N-terminal (1);	4.932270	0.00531	N	0.000218	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.33748	0.423	B	0.26517	0.07	T	0.32161	-0.9917	10	0.56958	D	0.05	.	4.3557	0.11178	0.2587:0.4915:0.2498:0.0	.	7	P43363	MAGAA_HUMAN	H	7	ENSP00000359347:R7H;ENSP00000244096:R7H;ENSP00000406161:R7H;ENSP00000391977:R7H	ENSP00000244096:R7H	R	-	2	0	MAGEA10	151054729	0.000000	0.05858	0.000000	0.03702	0.330000	0.28571	0.488000	0.22371	0.035000	0.15519	0.292000	0.19580	CGT	MAGEA10	-	pfam_Melanoma_ass_antigen_N	ENSG00000124260		0.602	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGEA10	HGNC	protein_coding	OTTHUMT00000060916.3	-	0	46	0	C	NM_021048		151304073	-1	tier1	rs145553450	no_errors	ENST00000244096	ensembl	human	known	74_37	missense	37.50	25	15	SNP	0.000	T	T	151304073	C	T	151304073	3	4	59	1	0	0	0	0	1	0	0	0	9200	536	19	1	1093	1	MAGEA10	23	151304073	Missense_Mutation	SNP	C	TCGA-L5-A4OJ-01A-11D-A27G-09	161028	151304073	3966487	485	17193											
CLSTN1	22883	genome.wustl.edu	37	chr1	9793590	9793590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaacctcctcgtagctggCcatggtgtccacgcctgcag	8	8	10	15	2	0	0	0	0	0	0	3	0	2	0	5	2	3	3	5	2	3	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:9793590C>T	ENST00000377298.4	-	16	3088	c.2296G>A	c.(2296-2298)Gcc>Acc	p.A766T	CLSTN1_ENST00000377288.3_Missense_Mutation_p.A747T|CLSTN1_ENST00000361311.4_Missense_Mutation_p.A756T|CLSTN1_ENST00000477264.1_5'Flank	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	766					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCGTAGCTGGCCATGGTGTCC	0.602																																																	0													68	58	61					1																	9793590		2203	4300	6503	SO:0001583	missense	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"Cadherins / Cadherin-related"	17447	protein-coding gene	gene with protein product	"cadherin-related family member 12"	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2296G>A	1.37:g.9793590C>T	ENSP00000366513:p.Ala766Thr		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A766T	ENST00000377298.4	37	c.2296	CCDS30580.1	1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966118	0.34659	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.13	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	L	0.33189	0.99	0.80722	D	1	P;P;P;B	0.45176	0.568;0.852;0.77;0.239	B;B;B;B	0.40444	0.176;0.329;0.176;0.226	T	0.02126	-1.1209	10	0.17369	T	0.5	-37.8041	13.5563	0.61761	0.0:0.9248:0.0:0.0752	.	747;756;766;121	B4E3Q1;O94985-2;O94985;B3KMD3	.;.;CSTN1_HUMAN;.	T	766;756;567;747;747	ENSP00000366513:A766T;ENSP00000354997:A756T;ENSP00000401934:A567T;ENSP00000366502:A747T	ENSP00000354997:A756T	A	-	1	0	CLSTN1	9716177	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.988000	0.70579	1.179000	0.42884	-0.136000	0.14681	GCC	CLSTN1	-	NULL	ENSG00000171603		0.602	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1		0	59	0	C			9793590	-1			no_errors	ENST00000377298	ensembl	human	known	74_37	missense	5.45	51	3	SNP	1.000	T	T	9793590	C	T	9793590	3	4	60	1	0	0	0	0	1	0	0	0	3568	739	26	3	665	3	CLSTN1	1	9793590	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09		9793590	239457031	1	17194											
ZNF697	90874	genome.wustl.edu	37	chr1	120165681	120165681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcacccgagtgcgtgcGcttgtgcgtgaagaggtgcg	5	8	16	12	6	1	2	1	1	0	1	1	3	1	2	2	1	4	2	2	1	1	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:120165681G>A	ENST00000421812.2	-	3	1404	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAGTGCGTGCGCTTGTGCGTG	0.667																																																	0													15	17	16					1																	120165681		2191	4292	6483	SO:0001583	missense	0			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"Zinc fingers, C2H2-type"	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1285C>T	1.37:g.120165681G>A	ENSP00000396857:p.Arg429Cys		Q96IT2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R429C	ENST00000421812.2	37	c.1285	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041284	0.35989	.	.	ENSG00000143067	ENST00000421812	T	0.25749	1.78	4.98	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002276	T	0.48732	0.1516	M	0.91140	3.18	0.50039	D	0.999843	D	0.89917	1.0	D	0.79784	0.993	T	0.62402	-0.6862	10	0.87932	D	0	-24.5497	12.7507	0.57306	0.0:0.0:0.8342:0.1658	.	429	Q5TEC3	ZN697_HUMAN	C	429	ENSP00000396857:R429C	ENSP00000396857:R429C	R	-	1	0	ZNF697	119967204	0.671000	0.27521	1.000000	0.80357	0.031000	0.12232	2.165000	0.42396	1.228000	0.43614	-0.311000	0.09066	CGC	ZNF697	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000143067		0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	-	0	35	0	G	XM_371286		120165681	-1	tier1	-	no_errors	ENST00000421812	ensembl	human	known	74_37	missense	34.38	20	11	SNP	1.000	A	A	120165681	G	A	120165681	3	1	60	1	0	0	0	0	1	0	0	0	18148	1087	38	1	356	1	ZNF697	1	120165681	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	110372091	120165681	129084940	2	17195											
IVL	3713	genome.wustl.edu	37	chr1	152882800	152882800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggacagctgaagcaccCggagcagcaggaggggcagc	11	1	19	10	1	0	1	0	1	0	0	0	5	0	5	1	6	5	5	1	6	1	0	rs541736259		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:152882800C>T	ENST00000368764.3	+	2	591	c.527C>T	c.(526-528)cCg>cTg	p.P176L	IVL_ENST00000392667.2_Missense_Mutation_p.P30L			P07476	INVO_HUMAN	involucrin	176	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctgaagcacccggagcagcag	0.642																																																	0													19	21	20					1																	152882800		2203	4299	6502	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.527C>T	1.37:g.152882800C>T	ENSP00000357753:p.Pro176Leu		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.P176L	ENST00000368764.3	37	c.527	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	C	0.312	-0.967516	0.02232	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11930	2.97;2.73	2.13	-4.25	0.03766	.	.	.	.	.	T	0.00608	0.0020	N	0.00146	-1.995	0.09310	N	1	B	0.24823	0.112	B	0.17098	0.017	T	0.47100	-0.9143	9	0.27785	T	0.31	.	5.3469	0.16014	0.3244:0.5011:0.1746:0.0	.	176	P07476	INVO_HUMAN	L	176;30	ENSP00000357753:P176L;ENSP00000376435:P30L	ENSP00000357753:P176L	P	+	2	0	IVL	151149424	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.509000	0.02264	-0.815000	0.04346	0.436000	0.28706	CCG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.642	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1		0	28	0	C	NM_005547		152882800	1			no_errors	ENST00000368764	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	152882800	C	T	152882800	3	4	60	1	0	0	0	0	1	0	0	0	7956	652	23	1	529	1	IVL	1	152882800	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	32717119	152882800	96367821	3	17196											
YY1AP1	55249	genome.wustl.edu	37	chr1	155630265	155630265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcaggcagtgctgcaggaGactcaaaactctcacctcca	12	7	9	13	0	2	1	2	0	1	1	4	2	3	1	2	2	4	4	2	2	3	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:155630265G>C	ENST00000295566.4	-	11	1597	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C	YY1AP1_ENST00000347088.5_Missense_Mutation_p.S479C|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S479C|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S459C|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S325C|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S448C|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S448C|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S468C|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S479C|YY1AP1_ENST00000368340.5_Missense_Mutation_p.S597C|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S468C|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S617C	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	525					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTGCAGGAGACTCAAAACT	0.567																																																	0													49	49	49					1																	155630265		2203	4300	6503	SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1574C>G	1.37:g.155630265G>C	ENSP00000295566:p.Ser525Cys		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.S617C	ENST00000295566.4	37	c.1850	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	g	6.646	0.487687	0.12641	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	2.53	1.57	0.23409	.	0.426528	0.22591	N	0.058096	T	0.20292	0.0488	N	0.22421	0.69	0.41117	D	0.985784	B;B;P;B;B	0.50528	0.002;0.007;0.936;0.019;0.023	B;B;P;B;B	0.44990	0.003;0.009;0.466;0.009;0.01	T	0.02751	-1.1115	10	0.39692	T	0.17	.	4.5863	0.12284	0.1857:0.2187:0.5956:0.0	.	617;459;525;479;597	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	C	468;479;448;479;468;597;525;479;448;459;617;325	ENSP00000352134:S468C;ENSP00000347686:S479C;ENSP00000311138:S448C;ENSP00000316079:S479C;ENSP00000355298:S468C;ENSP00000357324:S597C;ENSP00000295566:S525C;ENSP00000357314:S479C;ENSP00000385791:S448C;ENSP00000385390:S459C;ENSP00000357323:S617C;ENSP00000437926:S325C	ENSP00000295566:S525C	S	-	2	0	YY1AP1	153896889	0.654000	0.27367	0.436000	0.26797	0.879000	0.50718	2.121000	0.41977	0.379000	0.24794	0.306000	0.20318	TCT	YY1AP1	-	NULL	ENSG00000163374		0.567	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	-	0	46	0	G	NM_139118		155630265	-1	tier1	-	no_errors	ENST00000368339	ensembl	human	known	74_37	missense	35.82	43	24	SNP	0.685	C	C	155630265	G	C	155630265	3	2	60	1	0	0	0	0	1	0	0	0	17557	942	33	5	820	5	YY1AP1	1	155630265	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	2747465	155630265	93620356	4	17197											
GLT25D2	23127	genome.wustl.edu	37	chr1	183909716	183909716	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttcagggagactcacaCgggatgcttgttgtacatga	10	10	13	8	1	2	2	2	1	0	1	2	4	2	3	0	2	2	5	0	2	1	4			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:183909716C>A	ENST00000361927.4	-	11	1974	c.1603G>T	c.(1603-1605)Gta>Tta	p.V535L	COLGALT2_ENST00000486375.1_5'UTR|COLGALT2_ENST00000546159.1_Splice_Site_p.V535F|COLGALT2_ENST00000367520.3_Splice_Site_p.V272L|COLGALT2_ENST00000367521.1_Splice_Site_p.V143L	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	535					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GAGACTCACACGGGATGCTTG	0.478																																																	0													171	150	157					1																	183909716		2203	4300	6503	SO:0001630	splice_region_variant	0			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 17", "glycosyltransferase 25 domain containing 2"	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1604+1G>T	1.37:g.183909716C>A			O60327|Q9BZR0	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.V535L	ENST00000361927.4	37	c.1603	CCDS1360.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.267489|3.267489	0.59540|0.59540	.|.	.|.	ENSG00000198756|ENSG00000198756	ENST00000546159|ENST00000361927;ENST00000367521;ENST00000367520	T|T	0.78595|0.77229	-1.19|-1.08	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.126789|0.126789	0.53938|0.53938	D|D	0.000060|0.000060	T|T	0.77864|0.77864	0.4194|0.4194	L|L	0.59436|0.59436	1.845|1.845	0.49582|0.49582	D|D	0.999804|0.999804	D|P;P	0.67145|0.40180	0.996|0.705;0.666	D|B;B	0.66497|0.40602	0.944|0.334;0.247	T|T	0.77194|0.77194	-0.2677|-0.2677	10|10	0.56958|0.38643	D|T	0.05|0.18	.|.	19.4741|19.4741	0.94979|0.94979	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	535|535;272	F5H3T5|Q8IYK4;Q5SXQ3	.|GT252_HUMAN;.	F|L	535|535;143;272	ENSP00000439112:V535F|ENSP00000354960:V535L	ENSP00000439112:V535F|ENSP00000354960:V535L	V|V	-|-	1|1	0|0	GLT25D2|GLT25D2	182176339|182176339	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	4.642000|4.642000	0.61383|0.61383	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	GTC|GTA	COLGALT2	-	NULL	ENSG00000198756		0.478	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT2	HGNC	protein_coding	OTTHUMT00000086128.1	-	0	44	0	C	NM_015101	Missense_Mutation	183909716	-1	tier1	-	no_errors	ENST00000361927	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	A	A	183909716	C	A	183909716	5	1	60	1	0	0	0	0	0	0	1	0	6493	550	19	2	285	2	GLT25D2	1	183909716	Splice_Site	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	28279451	183909716	65340905	5	17198											
FBXO28	23219	genome.wustl.edu	37	chr1	224345198	224345198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtgaaatttctgagcttcGcaccaaagtgcaagaacagc	13	8	10	10	2	1	3	0	2	1	1	2	3	1	3	1	0	4	3	1	0	4	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:224345198G>A	ENST00000366862.5	+	5	900	c.857G>A	c.(856-858)cGc>cAc	p.R286H	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	286										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		TCTGAGCTTCGCACCAAAGTG	0.468																																																	0													129	132	131					1																	224345198		2203	4300	6503	SO:0001583	missense	0			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"F-boxes /  "other""	29046	protein-coding gene	gene with protein product	"centromere protein 30"	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.857G>A	1.37:g.224345198G>A	ENSP00000355827:p.Arg286His		E9PEM8|O75070	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.R286H	ENST00000366862.5	37	c.857	CCDS1539.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195518	0.78902	.	.	ENSG00000143756	ENST00000366862	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.73694	-0.3902	9	0.56958	D	0.05	-8.8106	20.8794	0.99867	0.0:0.0:1.0:0.0	.	286	Q9NVF7	FBX28_HUMAN	H	286	.	ENSP00000355827:R286H	R	+	2	0	FBXO28	222411821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.204000	0.95041	2.941000	0.99782	0.655000	0.94253	CGC	FBXO28	-	NULL	ENSG00000143756		0.468	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO28	HGNC	protein_coding	OTTHUMT00000091283.2		0	28	0	G	NM_015176		224345198	1			no_errors	ENST00000366862	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	A	A	224345198	G	A	224345198	3	1	60	1	0	0	0	0	1	0	0	0	5760	1087	38	1	875	1	FBXO28	1	224345198	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	40435482	224345198	24905423	6	17199											
H3F3A	3020	genome.wustl.edu	37	chr1	226252079	226252079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacaaagcagactgcccgCaaatcgaccggtggtaaagc	13	5	11	12	4	0	1	0	0	0	1	1	2	0	1	2	2	4	4	2	2	5	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:226252079C>T	ENST00000366813.1	+	1	402	c.27C>T	c.(25-27)cgC>cgT	p.R9R	H3F3A_ENST00000366815.3_Silent_p.R9R|RP11-396C23.4_ENST00000609423.1_RNA|H3F3A_ENST00000366814.3_Silent_p.R9R|H3F3A_ENST00000366816.1_Silent_p.R9R			P84243	H33_HUMAN	H3 histone, family 3A	9				R -> L (in Ref. 7; AAH81561). {ECO:0000305}.	blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		AGACTGCCCGCAAATCGACCG	0.488			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1q42.12	3020	"H3 histone, family 3A"		O	0													30	32	31					1																	226252079		2202	4296	6498	SO:0001819	synonymous_variant	0			BC029405	CCDS1550.1	1q42.12	2011-01-27			ENSG00000163041	ENSG00000163041		"Histones / Replication-independent"	4764	protein-coding gene	gene with protein product		601128		H3F3		3031613	Standard	NM_002107		Approved	H3.3A	uc001hpw.3	P84243	OTTHUMG00000037507	ENST00000366813.1:c.27C>T	1.37:g.226252079C>T		2311	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.R9	ENST00000366813.1	37	c.27	CCDS1550.1	1																																																																																			H3F3A	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000163041		0.488	H3F3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3A	HGNC	protein_coding	OTTHUMT00000091324.1	-	0	73	0	C	NM_002107		226252079	1	tier1	-	no_errors	ENST00000366813	ensembl	human	known	74_37	silent	11.27	126	16	SNP	1.000	T	T	226252079	C	T	226252079	2	4	60	1	0	0	0	0	0	0	0	1	6960	697	25	3		3	H3F3A	1	226252079	Silent	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	1906881	226252079	22998542	7	17200											
OR11L1	391189	genome.wustl.edu	37	chr1	248005147	248005147	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccattcaagaaggttctGgaatcctaacagctgaaagt	13	10	9	9	0	2	2	1	1	1	1	3	3	3	3	2	2	3	2	2	2	5	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:248005147G>A	ENST00000355784.2	-	1	107	c.52C>T	c.(52-54)Cag>Tag	p.Q18*		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	18						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGAAGGTTCTGGAATCCTAAC	0.483																																																	0													67	61	63					1																	248005147		2202	4299	6501	SO:0001587	stop_gained	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.52C>T	1.37:g.248005147G>A	ENSP00000348033:p.Gln18*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Q18*	ENST00000355784.2	37	c.52	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143702	0.77888	.	.	ENSG00000197591	ENST00000355784	.	.	.	4.22	4.22	0.49857	.	0.238254	0.21524	U	0.073161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	3.3413	0.07119	0.095:0.1711:0.5569:0.177	.	.	.	.	X	18	.	ENSP00000348033:Q18X	Q	-	1	0	OR11L1	246071770	0.000000	0.05858	0.949000	0.38748	0.878000	0.50629	-0.096000	0.11059	2.339000	0.79563	0.536000	0.68110	CAG	OR11L1	-	NULL	ENSG00000197591		0.483	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	-	0	12	0	G	NM_001001959		248005147	-1	tier1	-	no_errors	ENST00000355784	ensembl	human	known	74_37	nonsense	40.62	19	13	SNP	0.045	A	A	248005147	G	A	248005147	4	1	60	1	0	0	0	0	0	1	0	0	10969	1357	47	3	920	3	OR11L1	1	248005147	Nonsense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	21753068	248005147	1245474	8	17201											
SH3BP5L	80851	genome.wustl.edu	37	chr1	249107261	249107261	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatggccctccggagggtcTtctgcagggcttggacccga	5	8	15	13	3	2	0	0	0	2	0	3	4	3	2	3	5	1	2	3	5	0	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr1:249107261T>A	ENST00000366472.5	-	6	1867	c.638A>T	c.(637-639)aAg>aTg	p.K213M	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.K181M	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	213										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCGGAGGGTCTTCTGCAGGGC	0.647																																																	0													50	50	50					1																	249107261		2203	4300	6503	SO:0001583	missense	0			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.638A>T	1.37:g.249107261T>A	ENSP00000355428:p.Lys213Met		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	pfam_SH3-bd_5	p.K213M	ENST00000366472.5	37	c.638	CCDS31126.1	1	.	.	.	.	.	.	.	.	.	.	T	19.03	3.748016	0.69533	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	T	0.79749	-1.3	4.4	3.27	0.37495	.	0.000000	0.85682	D	0.000000	D	0.87900	0.6294	M	0.82716	2.605	0.53688	D	0.999971	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79784	0.989;0.989;0.993;0.975	D	0.87997	0.2753	10	0.87932	D	0	-58.0796	7.6036	0.28089	0.0:0.1044:0.0:0.8956	.	181;106;213;71	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	M	213;181	ENSP00000412203:K181M	ENSP00000355428:K213M	K	-	2	0	SH3BP5L	247073884	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.410000	0.66381	1.751000	0.51876	0.383000	0.25322	AAG	SH3BP5L	-	pfam_SH3-bd_5	ENSG00000175137		0.647	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	HGNC	protein_coding	OTTHUMT00000097140.1	-	0	36	0	T	NM_030645		249107261	-1	tier1	-	no_errors	ENST00000366472	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	A	A	249107261	T	A	249107261	3	1	60	1	0	0	0	0	1	0	0	0	14293	1609	56	5	551	5	SH3BP5L	1	249107261	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	1102114	249107261	143360	9	17202											
BIRC6	57448	genome.wustl.edu	37	chr2	32735596	32735596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctttgttgcaagattTgaatagtcctttactttttg	8	20	8	5	0	1	2	0	1	1	1	2	3	2	3	1	1	2	2	1	1	4	9			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:32735596T>C	ENST00000421745.2	+	53	10375	c.10241T>C	c.(10240-10242)tTg>tCg	p.L3414S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3414					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGCAAGATTTGAATAGTCCT	0.323																																					Pancreas(94;175 1509 16028 18060 45422)												0													106	114	111					2																	32735596		2203	4298	6501	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"Baculoviral IAP repeat containing", "Ubiquitin-conjugating enzymes E2"	13516	protein-coding gene	gene with protein product	"apollon"	605638	"baculoviral IAP repeat-containing 6"			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10241T>C	2.37:g.32735596T>C	ENSP00000393596:p.Leu3414Ser		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.L3414S	ENST00000421745.2	37	c.10241	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299443	0.60195	.	.	ENSG00000115760	ENST00000421745	T	0.75154	-0.91	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000005	T	0.77651	0.4162	N	0.22421	0.69	0.52501	D	0.999958	D	0.71674	0.998	D	0.78314	0.991	T	0.80407	-0.1395	10	0.62326	D	0.03	.	14.1636	0.65461	0.0:0.0:0.0:1.0	.	3414	Q9NR09	BIRC6_HUMAN	S	3414	ENSP00000393596:L3414S	ENSP00000393596:L3414S	L	+	2	0	BIRC6	32589100	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.972000	0.88022	2.150000	0.67090	0.533000	0.62120	TTG	BIRC6	-	NULL	ENSG00000115760		0.323	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3		0	37	0	T	NM_016252		32735596	1			no_errors	ENST00000421745	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	C	C	32735596	T	C	32735596	3	2	60	1	0	0	0	0	1	0	0	0	1440	1821	63	4	10451	4	BIRC6	2	32735596	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09		32735596	210463777	10	17203											
TCF7L1	83439	genome.wustl.edu	37	chr2	85529698	85529698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccacttctcccccggctCccctcccacccacctctccc	4	8	3	26	1	2	1	0	1	2	0	6	1	4	1	9	1	0	1	9	1	0	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:85529698C>A	ENST00000282111.3	+	5	892	c.617C>A	c.(616-618)tCc>tAc	p.S206Y		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	206	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCCCCCGGCTCCCCTCCCACC	0.572																																																	0													86	89	88					2																	85529698		2203	4300	6503	SO:0001583	missense	0			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.617C>A	2.37:g.85529698C>A	ENSP00000282111:p.Ser206Tyr		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S206Y	ENST00000282111.3	37	c.617	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620382	0.87460	.	.	ENSG00000152284	ENST00000282111	D	0.98531	-4.98	4.53	4.53	0.55603	CTNNB1 binding, N-teminal (1);	0.177722	0.48286	D	0.000194	D	0.97971	0.9332	L	0.47190	1.495	0.42214	D	0.991821	D	0.61080	0.989	P	0.61070	0.883	D	0.98832	1.0751	10	0.72032	D	0.01	.	14.8119	0.70003	0.0:1.0:0.0:0.0	.	206	Q9HCS4	TF7L1_HUMAN	Y	206	ENSP00000282111:S206Y	ENSP00000282111:S206Y	S	+	2	0	TCF7L1	85383209	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	7.434000	0.80377	2.328000	0.79073	0.655000	0.94253	TCC	TCF7L1	-	pfam_CTNNB1-bd_N	ENSG00000152284		0.572	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	-	0	32	0	C	NM_031283		85529698	1	tier1	-	no_errors	ENST00000282111	ensembl	human	known	74_37	missense	40.58	41	28	SNP	1.000	A	A	85529698	C	A	85529698	3	1	60	1	0	0	0	0	1	0	0	0	15744	855	30	3	635	3	TCF7L1	2	85529698	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	52794102	85529698	157669675	11	17204											
TMEM127	55654	genome.wustl.edu	37	chr2	96919649	96919649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagctccagcgcctgcTcctcttcctctgtggggtag	5	10	12	14	1	2	1	0	0	2	1	5	1	5	1	4	2	4	4	4	2	1	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:96919649T>C	ENST00000258439.3	-	4	870	c.614A>G	c.(613-615)gAg>gGg	p.E205G	TMEM127_ENST00000435268.1_Missense_Mutation_p.E121G|TMEM127_ENST00000432959.1_Missense_Mutation_p.E205G	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	205					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						CAGCGCCTGCTCCTCTTCCTC	0.612																																																	0													70	67	68					2																	96919649		2203	4300	6503	SO:0001583	missense	0			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.614A>G	2.37:g.96919649T>C	ENSP00000258439:p.Glu205Gly		D3DXH0	Missense_Mutation	SNP	NULL	p.E205G	ENST00000258439.3	37	c.614	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.333460	0.81801	.	.	ENSG00000135956	ENST00000258439;ENST00000432959;ENST00000435268	D;D;D	0.95853	-3.83;-3.83;-3.03	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	N	0.14661	0.345	0.80722	D	1	B	0.34290	0.447	B	0.33254	0.16	D	0.90858	0.4736	10	0.72032	D	0.01	-17.0289	15.1122	0.72368	0.0:0.0:0.0:1.0	.	205	O75204	TM127_HUMAN	G	205;205;121	ENSP00000258439:E205G;ENSP00000416660:E205G;ENSP00000411810:E121G	ENSP00000258439:E205G	E	-	2	0	TMEM127	96283376	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.535000	0.82014	2.216000	0.71823	0.379000	0.24179	GAG	TMEM127	-	NULL	ENSG00000135956		0.612	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM127	HGNC	protein_coding	OTTHUMT00000252845.3	-	0	38	0	T	NM_017849		96919649	-1	tier1	-	no_errors	ENST00000258439	ensembl	human	known	74_37	missense	31.25	44	20	SNP	1.000	C	C	96919649	T	C	96919649	3	2	60	1	0	0	0	0	1	0	0	0	16087	1551	54	4	106	4	TMEM127	2	96919649	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	11389951	96919649	146279724	12	17205											
LY75	4065	genome.wustl.edu	37	chr2	160664960	160664960	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacaattatttcacttacCaacagaatgttgagataatc	16	13	4	8	0	1	2	1	1	0	2	2	3	1	2	1	0	3	1	1	0	7	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:160664960C>G	ENST00000263636.4	-	33	4849	c.4822G>C	c.(4822-4824)Gac>Cac	p.D1608H	LY75_ENST00000554112.1_Splice_Site_p.D1608H|LY75_ENST00000553424.1_Splice_Site_p.D1608H|LY75-CD302_ENST00000504764.1_Splice_Site_p.D1608H|LY75-CD302_ENST00000505052.1_Splice_Site_p.D1608H	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1608	C-type lectin 10. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTTCACTTACCAACAGAATGT	0.338																																																	0													182	178	179					2																	160664960		2202	4299	6501	SO:0001630	splice_region_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.4822+1G>C	2.37:g.160664960C>G			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.D1608H	ENST00000263636.4	37	c.4822	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661052	0.47572	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	5.55	3.77	0.43336	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35838	U	0.002948	T	0.22437	0.0541	M	0.63428	1.95	0.30539	N	0.766632	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.988;0.999	T	0.03576	-1.1023	9	.	.	.	-8.5543	9.2257	0.37405	0.0:0.7763:0.0:0.2237	.	1608;1608;1608	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	H	1608	ENSP00000451511:D1608H;ENSP00000451446:D1608H;ENSP00000263636:D1608H;ENSP00000423463:D1608H;ENSP00000421035:D1608H	.	D	-	1	0	LY75;LY75-CD302	160373206	0.762000	0.28451	0.660000	0.29694	0.545000	0.35147	1.192000	0.32150	0.715000	0.32103	0.491000	0.48974	GAC	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	47	0	C		Missense_Mutation	160664960	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	31.88	47	22	SNP	0.852	G	G	160664960	C	G	160664960	5	3	60	1	0	0	0	0	0	0	1	0	9135	608	21	5	358	5	LY75	2	160664960	Splice_Site	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	63745311	160664960	82534413	13	17206											
SCN2A	6326	genome.wustl.edu	37	chr2	166153528	166153528	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgttttctttttcagaCgtttatagtattgaataaag	10	20	8	3	1	2	2	1	1	1	1	2	2	2	2	0	0	0	4	0	0	6	11			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:166153528C>A	ENST00000375437.2	+	3	559	c.269C>A	c.(268-270)aCg>aAg	p.T90K	SCN2A_ENST00000283256.6_Splice_Site_p.T90K|SCN2A_ENST00000357398.3_Splice_Site_p.T90K|SCN2A_ENST00000375427.2_Splice_Site_p.T90K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	90					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTTTTCAGACGTTTATAGTA	0.289																																																	0													46	44	45					2																	166153528		2202	4298	6500	SO:0001630	splice_region_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.268-1C>A	2.37:g.166153528C>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.T90K	ENST00000375437.2	37	c.269	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038101	0.93630	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.97642	-4.24;-4.47;-4.47;-4.47;-4.47	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000002	D	0.99096	0.9689	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99160	1.0861	10	0.87932	D	0	.	19.3637	0.94453	0.0:1.0:0.0:0.0	.	90;90	Q99250-2;Q99250	.;SCN2A_HUMAN	K	90	ENSP00000406454:T90K;ENSP00000364586:T90K;ENSP00000349973:T90K;ENSP00000283256:T90K;ENSP00000364576:T90K	ENSP00000283256:T90K	T	+	2	0	SCN2A	165861774	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.776000	0.85560	2.662000	0.90505	0.591000	0.81541	ACG	SCN2A	-	NULL	ENSG00000136531		0.289	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	74	0	C	NM_021007	Missense_Mutation	166153528	1	tier1	-	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	45.71	38	32	SNP	1.000	A	A	166153528	C	A	166153528	5	1	60	1	0	0	0	0	0	0	1	0	13961	550	19	2	275	2	SCN2A	2	166153528	Splice_Site	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	5488568	166153528	77045845	14	17207											
OLA1	29789	genome.wustl.edu	37	chr2	174940204	174940204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttgaagaagataatatCtccatcttcaacaatataat	19	13	3	6	0	3	3	1	1	2	2	4	3	3	3	1	0	1	0	1	0	9	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:174940204C>T	ENST00000409546.1	-	11	1831	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000428402.2_Silent_p.E260E|OLA1_ENST00000284719.3_Missense_Mutation_p.D381N|OLA1_ENST00000344357.5_Missense_Mutation_p.D223N					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						AAGATAATATCTCCATCTTCA	0.318																																																	0													74	71	72					2																	174940204		2201	4293	6494	SO:0001583	missense	0				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"GTP-binding protein 9 (putative)"	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.1201G>A	2.37:g.174940204C>T	ENSP00000386350:p.Asp401Asn			Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.D381N	ENST00000409546.1	37	c.1141		2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733201	0.89482	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T	0.65364	-0.09;-0.15	5.87	5.87	0.94306	Domain of unknown function DUF933 (1);TGS-like (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.993	D	0.93503	0.6846	10	0.87932	D	0	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	381;223;381	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	N	381;223;401	ENSP00000284719:D381N;ENSP00000386350:D401N	ENSP00000284719:D381N	D	-	1	0	OLA1	174648450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.775000	0.95449	0.650000	0.86243	GAT	OLA1	-	pfam_DUF933,superfamily_TGS-like,pirsf_CHP00092,tigrfam_CHP00092	ENSG00000138430		0.318	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1	-	0	80	0	C	NM_013341		174940204	-1	tier1	-	no_errors	ENST00000284719	ensembl	human	known	74_37	missense	44.07	66	52	SNP	1.000	T	T	174940204	C	T	174940204	3	4	60	1	0	0	0	0	1	0	0	0	10889	913	32	3	53	3	OLA1	2	174940204	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	8786676	174940204	68259169	15	17208											
TTN	7273	genome.wustl.edu	37	chr2	179593015	179593015	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccatccttaaaccactgAgcactaatgggaagtgaacc	13	10	7	11	0	0	2	0	2	0	0	2	3	2	3	4	1	3	1	4	1	5	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:179593015A>G	ENST00000591111.1	-	65	18809	c.18585T>C	c.(18583-18585)gcT>gcC	p.A6195A	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A6512A|TTN_ENST00000342992.6_Silent_p.A5268A|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12975	Ig-like 43.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCACTGAGCACTAATGG	0.383																																																	0													73	69	71					2																	179593015		1865	4093	5958	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18585T>C	2.37:g.179593015A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A5268	ENST00000591111.1	37	c.15804		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	12	0	A	NM_133378		179593015	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	54.55	10	12	SNP	1.000	G	G	179593015	A	G	179593015	2	3	60	1	0	0	0	0	0	0	0	1	16784	291	11	4		4	TTN	2	179593015	Silent	SNP	A	TCGA-L5-A4OM-01A-11D-A27G-09	4652811	179593015	63606358	16	17209											
CCDC108	255101	genome.wustl.edu	37	chr2	219894879	219894879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggcatgagaaggcctGgtcttcggccagttcatccg	6	9	15	11	3	2	1	1	1	1	1	4	2	3	1	3	5	0	2	3	5	1	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr2:219894879G>T	ENST00000341552.5	-	10	1296	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	CCDC108_ENST00000410037.1_Missense_Mutation_p.Q340K|CCDC108_ENST00000453220.1_Missense_Mutation_p.Q405K|CCDC108_ENST00000441968.1_Missense_Mutation_p.Q405K|CCDC108_ENST00000409865.3_Missense_Mutation_p.Q394K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	405						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAAGGCCTGGTCTTCGGCC	0.557											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													105	107	106					2																	219894879		2203	4300	6503	SO:0001583	missense	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1213C>A	2.37:g.219894879G>T	ENSP00000340776:p.Gln405Lys	2262	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.Q405K	ENST00000341552.5	37	c.1213	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	G	6.170	0.399519	0.11696	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220;ENST00000409865;ENST00000410037;ENST00000441164	T;T;T;T;T	0.06528	3.57;3.57;3.57;3.29;3.3	4.94	4.06	0.47325	.	0.950360	0.08659	N	0.912753	T	0.05914	0.0154	L	0.51422	1.61	0.20403	N	0.999909	B;B	0.27286	0.174;0.174	B;B	0.26416	0.069;0.069	T	0.47674	-0.9099	10	0.05436	T	0.98	-4.3772	4.7011	0.12827	0.0753:0.13:0.5352:0.2595	.	394;405	E9PG25;Q6ZU64	.;CC108_HUMAN	K	405;405;405;394;340;339	ENSP00000340776:Q405K;ENSP00000413377:Q405K;ENSP00000409117:Q405K;ENSP00000386945:Q394K;ENSP00000386258:Q340K	ENSP00000340776:Q405K	Q	-	1	0	CCDC108	219603123	0.449000	0.25689	0.803000	0.32268	0.537000	0.34900	0.729000	0.26028	1.304000	0.44892	0.655000	0.94253	CAG	CCDC108	-	NULL	ENSG00000181378		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	-	0	29	0	G	NM_194302		219894879	-1	tier1	-	no_errors	ENST00000341552	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.193	T	T	219894879	G	T	219894879	3	4	60	1	0	0	0	0	1	0	0	0	2750	1357	47	3	4668	3	CCDC108	2	219894879	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	40301864	219894879	23304494	17	17210											
ZNF445	353274	genome.wustl.edu	37	chr3	44489304	44489304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttatagggcttctcctggGtgtgaatcctttgatgttca	7	17	10	7	0	2	2	1	2	1	0	4	2	3	2	2	2	0	2	2	2	3	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr3:44489304G>A	ENST00000396077.2	-	8	2206	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	ZNF445_ENST00000425708.2_Missense_Mutation_p.T620I	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	620					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTTCTCCTGGGTGTGAATCCT	0.418																																																	0													87	90	89					3																	44489304		2203	4300	6503	SO:0001583	missense	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.1859C>T	3.37:g.44489304G>A	ENSP00000379387:p.Thr620Ile		Q3MJD1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T620I	ENST00000396077.2	37	c.1859	CCDS2713.1	3	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384264	0.61845	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.25749	1.78;1.78	3.88	3.88	0.44766	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.131434	0.35291	N	0.003310	T	0.50086	0.1595	M	0.74647	2.275	0.40234	D	0.977887	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56926	-0.7898	10	0.87932	D	0	.	14.1465	0.65353	0.0:0.0:1.0:0.0	.	608;620	B7ZKX2;P59923	.;ZN445_HUMAN	I	620	ENSP00000413073:T620I;ENSP00000379387:T620I	ENSP00000379387:T620I	T	-	2	0	ZNF445	44464308	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	4.576000	0.60915	2.460000	0.83146	0.591000	0.81541	ACC	ZNF445	-	pfscan_Znf_C2H2	ENSG00000185219		0.418	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	-	0	60	0	G	NM_181489		44489304	-1	tier1	-	no_errors	ENST00000396077	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	A	A	44489304	G	A	44489304	3	1	60	1	0	0	0	0	1	0	0	0	17966	1261	44	3	1240	3	ZNF445	3	44489304	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09		44489304	153533126	18	17211											
LARS2	23395	genome.wustl.edu	37	chr3	45557698	45557698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagttgtggagcagtatggGatcgacacgattcggctcta	10	10	14	7	3	1	0	0	0	1	0	3	5	1	2	0	3	1	4	0	3	3	4	rs189078355		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr3:45557698G>A	ENST00000415258.1	+	16	2115	c.1974G>A	c.(1972-1974)ggG>ggA	p.G658G	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000265537.3_Silent_p.G658G|LARS2_ENST00000414984.1_Silent_p.G615G			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	658					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGCAGTATGGGATCGACACGA	0.478																																																	0													248	197	214					3																	45557698		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1974G>A	3.37:g.45557698G>A				Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.G658	ENST00000415258.1	37	c.1974	CCDS2728.1	3																																																																																			LARS2	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Leu-tRNA-ligase_bac/mito	ENSG00000011376		0.478	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	-	0	63	0	G	NM_015340		45557698	1	tier1	-	no_errors	ENST00000265537	ensembl	human	known	74_37	silent	48.72	20	19	SNP	0.494	A	A	45557698	G	A	45557698	2	1	60	1	0	0	0	0	0	0	0	1	8663	1161	41	3		3	LARS2	3	45557698	Silent	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	1068394	45557698	152464732	19	17212											
ZBTB20	26137	genome.wustl.edu	37	chr3	114099155	114099155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaaacagcttcaaagttCaggcagggaaggcccggctt	13	6	12	10	1	2	0	2	0	0	0	2	2	2	1	1	4	2	4	1	4	4	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr3:114099155C>T	ENST00000474710.1	-	3	286	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ZBTB20_ENST00000393785.2_5'UTR|ZBTB20-AS1_ENST00000460210.1_RNA|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_5'UTR|ZBTB20_ENST00000357258.3_5'UTR|ZBTB20_ENST00000462705.1_5'UTR|ZBTB20_ENST00000471418.1_5'UTR|ZBTB20_ENST00000481632.1_5'UTR	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	36						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTTCAAAGTTCAGGCAGGGAA	0.522																																					NSCLC(69;748 1344 9802 11203 30933)												0													193	165	173					3																	114099155		692	1591	2283	SO:0001819	synonymous_variant	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.108G>A	3.37:g.114099155C>T			Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L36	ENST00000474710.1	37	c.108	CCDS54626.1	3																																																																																			ZBTB20	-	NULL	ENSG00000181722		0.522	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0	53	0	C	NM_015642		114099155	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	silent	8.20	56	5	SNP	1.000	T	T	114099155	C	T	114099155	2	4	60	1	0	0	0	0	0	0	0	1	17577	813	29	3		3	ZBTB20	3	114099155	Silent	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	68541457	114099155	83923275	20	17213											
EEFSEC	60678	genome.wustl.edu	37	chr3	128060142	128060142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagccatgcaaggagacCggctgggcatctgcgtcacc	8	7	12	14	2	3	1	2	0	1	1	3	2	3	1	3	3	3	3	3	3	1	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr3:128060142C>T	ENST00000254730.6	+	5	907	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.R230W	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	285					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCAAGGAGACCGGCTGGGCAT	0.582																																																	0													81	75	77					3																	128060142		2203	4300	6503	SO:0001583	missense	0				CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"elongation factor for selenoprotein translation"	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.853C>T	3.37:g.128060142C>T	ENSP00000254730:p.Arg285Trp		Q96HZ6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.R285W	ENST00000254730.6	37	c.853	CCDS33849.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180619	0.78677	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	T;T	0.63913	-0.07;-0.07	5.34	4.38	0.52667	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91252	0.5030	10	0.87932	D	0	-5.451	15.0996	0.72262	0.1916:0.8084:0.0:0.0	.	230;285	C9J8T0;P57772	.;SELB_HUMAN	W	285;230	ENSP00000254730:R285W;ENSP00000417660:R230W	ENSP00000254730:R285W	R	+	1	2	EEFSEC	129542832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.889000	0.48601	2.480000	0.83734	0.591000	0.81541	CGG	EEFSEC	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel	ENSG00000132394		0.582	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEFSEC	HGNC	protein_coding	OTTHUMT00000356738.2	-	0	57	0	C	NM_021937		128060142	1	tier1	-	no_errors	ENST00000254730	ensembl	human	known	74_37	missense	14.10	67	11	SNP	1.000	T	T	128060142	C	T	128060142	3	4	60	1	0	0	0	0	1	0	0	0	4945	643	23	1	871	1	EEFSEC	3	128060142	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	13960987	128060142	69962288	21	17214											
HTT	3064	genome.wustl.edu	37	chr4	3133112	3133112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgtttttgctaacaGggggaaaaaatggtgagtac	11	12	12	6	1	0	1	0	1	0	0	1	2	0	2	0	3	4	4	0	3	5	5			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr4:3133112G>A	ENST00000355072.5	+	15	2231	c.2086G>A	c.(2086-2088)Ggg>Agg	p.G696R		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	696					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTTGCTAACAGGGGGAAAAAA	0.483																																																	0													99	92	94					4																	3133112		1967	4155	6122	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2086G>A	4.37:g.3133112G>A	ENSP00000347184:p.Gly696Arg		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.G696R	ENST00000355072.5	37	c.2086	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106000	0.77096	.	.	ENSG00000197386	ENST00000355072	T	0.64991	-0.13	5.07	4.22	0.49857	Armadillo-type fold (1);	0.049610	0.85682	D	0.000000	T	0.72961	0.3526	M	0.81341	2.54	0.58432	D	0.999997	D	0.56035	0.974	P	0.53224	0.721	T	0.77981	-0.2383	10	0.87932	D	0	.	12.8655	0.57937	0.0:0.0:0.8366:0.1634	.	696	P42858	HD_HUMAN	R	696	ENSP00000347184:G696R	ENSP00000347184:G696R	G	+	1	0	HTT	3102910	1.000000	0.71417	0.065000	0.19835	0.945000	0.59286	8.393000	0.90182	1.335000	0.45486	0.655000	0.94253	GGG	HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.483	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	97	0	G	NM_002111		3133112	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	14.06	55	9	SNP	0.950	A	A	3133112	G	A	3133112	3	1	60	1	0	0	0	0	1	0	0	0	7484	1000	35	3	2144	3	HTT	4	3133112	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09		3133112	188021164	22	17215											
CCDC96	257236	genome.wustl.edu	37	chr4	7043105	7043105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattccaggcgccggtgaaGcagttcggtcttgtccacct	6	10	13	12	3	1	1	0	1	1	0	4	2	3	2	4	4	1	2	4	4	1	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr4:7043105G>A	ENST00000310085.4	-	1	1623	c.1561C>T	c.(1561-1563)Ctt>Ttt	p.L521F	TADA2B_ENST00000512388.1_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	521										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGCCGGTGAAGCAGTTCGGTC	0.572																																																	0													92	87	89					4																	7043105		2203	4300	6503	SO:0001583	missense	0			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1561C>T	4.37:g.7043105G>A	ENSP00000309285:p.Leu521Phe		Q8N2I7	Missense_Mutation	SNP	NULL	p.L521F	ENST00000310085.4	37	c.1561	CCDS3395.1	4	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082444	0.20309	.	.	ENSG00000173013	ENST00000310085	T	0.59083	0.29	3.61	3.61	0.41365	.	0.138216	0.31772	N	0.007096	T	0.70937	0.3281	M	0.71206	2.165	0.25196	N	0.99009	D	0.89917	1.0	D	0.85130	0.997	T	0.60409	-0.7269	10	0.41790	T	0.15	-12.8808	10.2914	0.43599	0.1019:0.0:0.8981:0.0	.	521	Q2M329	CCD96_HUMAN	F	521	ENSP00000309285:L521F	ENSP00000309285:L521F	L	-	1	0	CCDC96	7094006	1.000000	0.71417	0.014000	0.15608	0.006000	0.05464	4.152000	0.58111	1.844000	0.53588	0.462000	0.41574	CTT	CCDC96	-	NULL	ENSG00000173013		0.572	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC96	HGNC	protein_coding	OTTHUMT00000246838.1	-	0	84	0	G	NM_153376		7043105	-1	tier1	-	no_errors	ENST00000310085	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.420	A	A	7043105	G	A	7043105	3	1	60	1	0	0	0	0	1	0	0	0	2881	971	34	3	110	3	CCDC96	4	7043105	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	3909993	7043105	184111171	23	17216											
FIP1L1	81608	genome.wustl.edu	37	chr4	54325561	54325561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcaaagaaggaaaagaagCgggcagtgagcctgcccctg	15	3	14	9	1	0	3	0	1	0	2	0	4	0	4	3	2	4	2	3	2	6	0	rs377576240		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr4:54325561C>T	ENST00000337488.6	+	18	1924	c.1730C>T	c.(1729-1731)gCg>gTg	p.A577V	LNX1_ENST00000306888.2_3'UTR|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.A503V|FIP1L1_ENST00000358575.5_Missense_Mutation_p.A571V	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	577	Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGAAAAGAAGCGGGCAGTGAG	0.438			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0								C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	87	88	88		1712,1508,1730	5.4	1	4		88	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	FIP1L1	NM_001134937.1,NM_001134938.1,NM_030917.3	64,64,64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	571/589,503/521,577/595	54325561	2,13004	2203	4300	6503	SO:0001583	missense	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1730C>T	4.37:g.54325561C>T	ENSP00000336752:p.Ala577Val		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.A577V	ENST00000337488.6	37	c.1730	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764695	0.69878	0.0	2.33E-4	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;D	0.94092	2.26;2.26;-3.35	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	D	0.89805	0.6821	L	0.44542	1.39	0.80722	D	1	P;P;P;P	0.44734	0.655;0.842;0.516;0.524	B;B;B;B	0.33960	0.064;0.173;0.064;0.043	D	0.90622	0.4560	10	0.52906	T	0.07	-13.86	19.5589	0.95364	0.0:1.0:0.0:0.0	.	571;571;503;577	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	V	577;571;503;237	ENSP00000336752:A577V;ENSP00000351383:A571V;ENSP00000302993:A503V	ENSP00000302993:A503V	A	+	2	0	FIP1L1	54020318	0.998000	0.40836	0.988000	0.46212	0.599000	0.36880	4.035000	0.57297	2.691000	0.91804	0.650000	0.86243	GCG	FIP1L1	-	NULL	ENSG00000145216		0.438	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1		0	19	0	C	NM_030917		54325561	1			no_errors	ENST00000337488	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	54325561	C	T	54325561	3	4	60	1	0	0	0	0	1	0	0	0	5918	768	27	1	1831	1	FIP1L1	4	54325561	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	47282456	54325561	136828715	24	17217											
ADH6	130	genome.wustl.edu	37	chr4	100128630	100128630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaacccttcaaagaacGtcctgagaagaacaactggc	17	5	8	11	1	1	4	1	1	0	4	2	5	2	4	2	1	5	0	2	1	7	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr4:100128630G>A	ENST00000237653.7	-	7	1321	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'Flank|ADH6_ENST00000407820.2_Missense_Mutation_p.R104C|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Intron|ADH6_ENST00000394899.2_Missense_Mutation_p.R313C|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	313					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	TTCAAAGAACGTCCTGAGAAG	0.483																																																	0													138	133	135					4																	100128630		2203	4300	6503	SO:0001583	missense	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.937C>T	4.37:g.100128630G>A	ENSP00000237653:p.Arg313Cys		B3KS45|Q58F53	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.R313C	ENST00000237653.7	37	c.937	CCDS3647.1	4	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509527	0.44660	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653;ENST00000508558	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	3.37	2.52	0.30459	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.132384	0.48286	D	0.000186	T	0.49881	0.1583	H	0.94808	3.585	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;P;D	0.97110	1.0;0.633;0.997	T	0.60816	-0.7188	10	0.87932	D	0	-8.4352	11.1009	0.48174	0.0959:0.0:0.9041:0.0	.	190;313;313	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	C	313;104;313;249	ENSP00000378359:R313C;ENSP00000384997:R104C;ENSP00000237653:R313C;ENSP00000426187:R249C	ENSP00000237653:R313C	R	-	1	0	ADH6	100347653	1.000000	0.71417	0.501000	0.27601	0.169000	0.22640	5.850000	0.69473	0.701000	0.31803	-0.253000	0.11424	CGT	ADH6	-	pfam_ADH_C,smart_PKS_ER	ENSG00000172955		0.483	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	-	0	57	0	G	NM_000672		100128630	-1	tier1	-	no_errors	ENST00000394899	ensembl	human	known	74_37	missense	22.06	53	15	SNP	1.000	A	A	100128630	G	A	100128630	3	1	60	1	0	0	0	0	1	0	0	0	312	1145	40	1	206	1	ADH6	4	100128630	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	45803069	100128630	91025646	25	17218											
TBCK	93627	genome.wustl.edu	37	chr4	107037369	107037369	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaggatactcttcactaTtccggatgtcaaccaccagg	12	9	8	12	1	3	0	2	0	1	0	4	2	4	2	3	3	2	1	3	3	4	4			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr4:107037369T>C	ENST00000273980.5	-	25	2849	c.2402A>G	c.(2401-2403)aAt>aGt	p.N801S	TBCK_ENST00000432496.2_Missense_Mutation_p.N801S|TBCK_ENST00000361687.4_Missense_Mutation_p.N738S|TBCK_ENST00000394708.2_Missense_Mutation_p.N801S|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Missense_Mutation_p.N762S					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTCTTCACTATTCCGGATGTC	0.393																																																	0													191	175	180					4																	107037369		2203	4300	6503	SO:0001583	missense	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2402A>G	4.37:g.107037369T>C	ENSP00000273980:p.Asn801Ser			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom	p.N801S	ENST00000273980.5	37	c.2402	CCDS54788.1	4	.	.	.	.	.	.	.	.	.	.	T	0.059	-1.228018	0.01518	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.41	2.96	0.34315	Rhodanese-like (5);	0.289542	0.35677	N	0.003043	T	0.09335	0.0230	N	0.02685	-0.53	0.24340	N	0.994968	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.002	T	0.34354	-0.9832	10	0.15499	T	0.54	.	8.6114	0.33804	0.0:0.152:0.0:0.848	.	801;762;738	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	S	801;801;738;762;801	ENSP00000273980:N801S;ENSP00000405847:N801S;ENSP00000355338:N738S;ENSP00000378196:N762S;ENSP00000378198:N801S	ENSP00000273980:N801S	N	-	2	0	TBCK	107256818	0.929000	0.31497	0.668000	0.29813	0.572000	0.35998	1.072000	0.30678	0.364000	0.24374	0.459000	0.35465	AAT	TBCK	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000145348		0.393	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4	-	0	129	0	T	NM_033115		107037369	-1	tier1	-	no_errors	ENST00000273980	ensembl	human	known	74_37	missense	35.58	67	37	SNP	0.362	C	C	107037369	T	C	107037369	3	2	60	1	0	0	0	0	1	0	0	0	15683	1493	52	4	291	4	TBCK	4	107037369	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	6908739	107037369	84116907	26	17219											
QRFPR	84109	genome.wustl.edu	37	chr4	122261765	122261765	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttgcaaatgaaagcaCctgcagtaaggaaataggac	16	7	9	9	0	1	1	0	1	1	0	1	3	1	3	2	2	3	4	2	2	5	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr4:122261765C>T	ENST00000394427.2	-	2	752	c.341G>A	c.(340-342)gGt>gAt	p.G114D	QRFPR_ENST00000334383.5_Splice_Site_p.G114D	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	114					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.G114V(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AATGAAAGCACCTGCAGTAAG	0.413																																																	1	Substitution - Missense(1)	lung(1)											100	84	90					4																	122261765		2203	4300	6503	SO:0001630	splice_region_variant	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.341-1G>A	4.37:g.122261765C>T				Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.G114D	ENST00000394427.2	37	c.341	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379408	0.61845	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.49720	0.77;0.77	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.046276	0.85682	D	0.000000	T	0.74876	0.3774	M	0.88570	2.965	0.80722	D	1	D;P;P	0.89917	1.0;0.95;0.938	D;D;D	0.97110	1.0;0.97;0.949	T	0.80317	-0.1433	10	0.66056	D	0.02	.	18.66	0.91469	0.0:1.0:0.0:0.0	.	114;114;114	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	D	114	ENSP00000377948:G114D;ENSP00000335610:G114D	ENSP00000335610:G114D	G	-	2	0	QRFPR	122481215	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.315000	0.78998	2.387000	0.81309	0.579000	0.79373	GGT	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000186867		0.413	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2		0	34	0	C	NM_198179	Missense_Mutation	122261765	-1			no_errors	ENST00000394427	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	122261765	C	T	122261765	5	4	60	1	0	0	0	0	0	0	1	0	12923	521	18	3	974	3	QRFPR	4	122261765	Splice_Site	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	15224396	122261765	68892511	27	17220											
CLGN	1047	genome.wustl.edu	37	chr4	141321590	141321590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtttggcatgtttctcttcGaaaactccagttttgggatg	7	16	11	7	1	1	0	0	0	1	0	4	2	2	1	1	3	1	4	1	3	2	5			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr4:141321590G>A	ENST00000325617.5	-	7	1055	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CLGN_ENST00000537281.1_Silent_p.F205F|CLGN_ENST00000414773.1_Silent_p.F205F	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	205					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTCTCTTCGAAAACTCCAG	0.333																																																	0													111	116	114					4																	141321590		2203	4300	6503	SO:0001819	synonymous_variant	0			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.615C>T	4.37:g.141321590G>A			B3KS90|B4DXV8|D3DNY8	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.F205	ENST00000325617.5	37	c.615	CCDS3751.1	4																																																																																			CLGN	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf	ENSG00000153132		0.333	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	-	0	41	0	G	NM_004362		141321590	-1	tier1	-	no_errors	ENST00000325617	ensembl	human	known	74_37	silent	32.56	29	14	SNP	1.000	A	A	141321590	G	A	141321590	2	1	60	1	0	0	0	0	0	0	0	1	3531	1049	37	1		1	CLGN	4	141321590	Silent	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	19059825	141321590	49832686	28	17221											
TARS	6897	genome.wustl.edu	37	chr5	33458676	33458676	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcttttacccaggaccaAgaactatatttctttcatga	11	17	4	9	0	3	2	1	1	2	1	3	3	3	3	2	1	2	0	2	1	5	8			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr5:33458676A>T	ENST00000265112.3	+	10	1301	c.990A>T	c.(988-990)caA>caT	p.Q330H	TARS_ENST00000541634.1_Missense_Mutation_p.Q226H|TARS_ENST00000414361.2_Missense_Mutation_p.Q209H|TARS_ENST00000455217.2_Missense_Mutation_p.Q363H|TARS_ENST00000502553.1_Missense_Mutation_p.Q330H	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	330					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	CCCAGGACCAAGAACTATATT	0.353																																																	0													125	127	127					5																	33458676		2203	4300	6503	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.990A>T	5.37:g.33458676A>T	ENSP00000265112:p.Gln330His		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.Q330H	ENST00000265112.3	37	c.990	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964243	0.74131	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T	0.51071	0.72;0.72;0.73	6.13	-1.03	0.10102	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	H	0.96460	3.825	0.51233	D	0.999915	P;P;B;P	0.42556	0.611;0.783;0.441;0.783	B;B;B;B	0.39590	0.304;0.179;0.222;0.179	T	0.71474	-0.4582	10	0.72032	D	0.01	-29.9662	11.9956	0.53201	0.6838:0.0:0.3162:0.0	.	209;363;226;330	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	H	330;330;226;363;209	ENSP00000424387:Q330H;ENSP00000265112:Q330H;ENSP00000387710:Q363H	ENSP00000265112:Q330H	Q	+	3	2	TARS	33494433	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	2.041000	0.41213	-0.048000	0.13401	0.524000	0.50904	CAA	TARS	-	tigrfam_Thr-tRNA-ligase_IIa	ENSG00000113407		0.353	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0	32	0	A	NM_152295		33458676	1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.999	T	T	33458676	A	T	33458676	3	4	60	1	0	0	0	0	1	0	0	0	15606	69	3	5	1028	5	TARS	5	33458676	Missense_Mutation	SNP	A	TCGA-L5-A4OM-01A-11D-A27G-09		33458676	147456584	29	17222											
FEM1C	56929	genome.wustl.edu	37	chr5	114860452	114860452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagcttaagaaacctgtaTatagtctgctttttgaaatg	12	15	8	6	0	1	2	0	1	1	1	1	2	1	2	1	0	4	4	1	0	6	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr5:114860452T>C	ENST00000274457.3	-	3	1968	c.1407A>G	c.(1405-1407)atA>atG	p.I469M		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	469					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GAAACCTGTATATAGTCTGCT	0.388																																																	0													145	146	146					5																	114860452		2202	4299	6501	SO:0001583	missense	0				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1407A>G	5.37:g.114860452T>C	ENSP00000274457:p.Ile469Met		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I469M	ENST00000274457.3	37	c.1407	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	T	13.85	2.359386	0.41801	.	.	ENSG00000145780	ENST00000274457	T	0.56941	0.43	5.55	0.193	0.15139	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.58669	1.825	0.41590	D	0.988794	P	0.48294	0.908	P	0.53062	0.717	T	0.55108	-0.8192	10	0.62326	D	0.03	-24.2525	8.3831	0.32483	0.1863:0.0:0.5019:0.3118	.	469	Q96JP0	FEM1C_HUMAN	M	469	ENSP00000274457:I469M	ENSP00000274457:I469M	I	-	3	3	FEM1C	114888351	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.677000	0.25262	0.069000	0.16605	0.533000	0.62120	ATA	FEM1C	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000145780		0.388	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	HGNC	protein_coding	OTTHUMT00000250857.3	-	0	62	0	T	NM_020177		114860452	-1	tier1	-	no_errors	ENST00000274457	ensembl	human	known	74_37	missense	65.22	16	30	SNP	0.975	C	C	114860452	T	C	114860452	3	2	60	1	0	0	0	0	1	0	0	0	5833	1396	49	4	450	4	FEM1C	5	114860452	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	81401776	114860452	66054808	30	17223											
PCDHA9	9752	genome.wustl.edu	37	chr5	140230070	140230070	+	Frame_Shift_Del	DEL	A	A	-																															cagcgctgacggccacggccActgtgctggtgtcgctggtg																										TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr5:140230070delA	ENST00000532602.1	+	1	3023	c.1990delA	c.(1990-1992)actfs	p.T664fs	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Frame_Shift_Del_p.T664fs|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCACGGCCACTGTGCTGGT	0.682																																					Melanoma(55;1800 1972 14909)												0													44	47	46					5																	140230070		2197	4265	6462	SO:0001589	frameshift_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1990delA	5.37:g.140230070delA	ENSP00000436042:p.Thr664fs		O15053|Q2M3S5	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T664fs	ENST00000532602.1	37	c.1990	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.682	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2		0	47	0	A	NM_031857		140230070	1	tier1		no_errors	ENST00000532602	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	0.998	-	-	140230070	A	-	140230070	7	5	60	1	0	1	0	1	0	0	0	0	11570	159	6	0	1992	0	PCDHA9	5	140230070	Frame_Shift_Del	DEL	A	TCGA-L5-A4OM-01A-11D-A27G-09	25369618	140230070	40685190	31	17224											
TCOF1	6949	genome.wustl.edu	37	chr5	149772327	149772327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccgcagcagagtccagcGaggatgatgtggtggcgcca	10	5	16	10	3	0	3	0	1	0	2	1	5	1	4	3	3	2	2	3	3	0	0			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr5:149772327G>A	ENST00000504761.2	+	22	3574	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	TCOF1_ENST00000445265.2_Missense_Mutation_p.E1116K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E1193K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E1115K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E1192K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E1229K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E1155K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1192					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.E1192K(1)|p.E1115K(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGTCCAGCGAGGATGATGT	0.637																																																	2	Substitution - Missense(2)	lung(2)											53	50	51					5																	149772327		2203	4300	6503	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3574G>A	5.37:g.149772327G>A	ENSP00000421655:p.Glu1192Lys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E1229K	ENST00000504761.2	37	c.3685	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.148387	0.94603	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.55	5.55	0.83447	.	0.596735	0.14050	N	0.344855	T	0.60340	0.2261	L	0.29908	0.895	0.31452	N	0.670632	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.993;0.996	P;P;P;P;P	0.57009	0.811;0.811;0.811;0.652;0.811	T	0.58994	-0.7537	10	0.28530	T	0.3	-12.0608	15.0069	0.71519	0.0:0.0:1.0:0.0	.	1155;1115;1154;1192;1116	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	K	1229;1193;1116;1115;1155;1154;1192;1192	ENSP00000400939:E1229K;ENSP00000367028:E1193K;ENSP00000409944:E1116K;ENSP00000325223:E1115K;ENSP00000406888:E1155K;ENSP00000390717:E1154K;ENSP00000421655:E1192K;ENSP00000427484:E1192K	ENSP00000325223:E1115K	E	+	1	0	TCOF1	149752520	0.997000	0.39634	0.834000	0.33040	0.981000	0.71138	4.839000	0.62810	2.621000	0.88768	0.561000	0.74099	GAG	TCOF1	-	NULL	ENSG00000070814		0.637	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	-	0	78	0	G	NM_001008656		149772327	1	tier1	-	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.950	A	A	149772327	G	A	149772327	3	1	60	1	0	0	0	0	1	0	0	0	15755	1059	37	1	3685	1	TCOF1	5	149772327	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	9542257	149772327	31142933	32	17225											
FAM65B	9750	genome.wustl.edu	37	chr6	24825523	24825523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctcactaacttcgttGtcctctctggttaatagcag	9	13	7	12	1	2	0	1	0	1	0	5	0	3	0	2	1	3	3	2	1	3	5			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr6:24825523G>C	ENST00000259698.4	-	20	3037	c.2862C>G	c.(2860-2862)gaC>gaG	p.D954E	FAM65B_ENST00000538035.1_Missense_Mutation_p.D933E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	954					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TAACTTCGTTGTCCTCTCTGG	0.493																																																	0													165	134	144					6																	24825523		692	1591	2283	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2862C>G	6.37:g.24825523G>C	ENSP00000259698:p.Asp954Glu		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D954E	ENST00000259698.4	37	c.2862	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844963	0.32606	.	.	ENSG00000111913	ENST00000259698;ENST00000538035	T;T	0.76839	-1.05;-1.05	5.6	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.448518	0.27773	N	0.017918	T	0.58148	0.2102	L	0.56769	1.78	0.09310	N	1	B;B	0.27068	0.167;0.073	B;B	0.27380	0.053;0.079	T	0.54682	-0.8257	10	0.62326	D	0.03	-12.2716	6.8072	0.23784	0.0812:0.1286:0.6584:0.1318	.	933;954	F5GX51;Q9Y4F9	.;FA65B_HUMAN	E	954;933	ENSP00000259698:D954E;ENSP00000441138:D933E	ENSP00000259698:D954E	D	-	3	2	FAM65B	24933502	0.785000	0.28726	0.012000	0.15200	0.899000	0.52679	1.463000	0.35277	2.644000	0.89710	0.655000	0.94253	GAC	FAM65B	-	superfamily_ARM-type_fold	ENSG00000111913		0.493	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0	81	0	G			24825523	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.000	C	C	24825523	G	C	24825523	3	2	60	1	0	0	0	0	1	0	0	0	5622	1368	48	5	360	5	FAM65B	6	24825523	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09		24825523	146289544	33	17226											
HIST1H3B	8358	genome.wustl.edu	37	chr6	26032136	26032136	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacttttggtagcggcggatCtcgcgcagagccacagtgcc	7	8	14	12	4	1	1	0	0	1	1	2	3	1	2	2	3	3	2	2	3	1	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr6:26032136C>G	ENST00000244661.2	-	1	152	c.153G>C	c.(151-153)gaG>gaC	p.E51D		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	51					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AGCGGCGGATCTCGCGCAGAG	0.627																																																	0													57	67	64					6																	26032136		2203	4300	6503	SO:0001583	missense	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.153G>C	6.37:g.26032136C>G	ENSP00000244661:p.Glu51Asp		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E51D	ENST00000244661.2	37	c.153	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	14.96	2.691336	0.48097	.	.	ENSG00000124693	ENST00000244661	T	0.57273	0.41	5.19	5.19	0.71726	.	.	.	.	.	T	0.65091	0.2658	.	.	.	0.45427	D	0.998402	.	.	.	.	.	.	T	0.68907	-0.5285	6	0.72032	D	0.01	.	18.0628	0.89382	0.0:1.0:0.0:0.0	.	.	.	.	D	51	ENSP00000244661:E51D	ENSP00000244661:E51D	E	-	3	2	HIST1H3B	26140115	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	3.191000	0.50981	2.577000	0.86979	0.561000	0.74099	GAG	HIST1H3B	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.627	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	-	0	72	0	C	NM_003537		26032136	-1	tier1	-	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	17.07	68	14	SNP	1.000	G	G	26032136	C	G	26032136	3	3	60	1	0	0	0	0	1	0	0	0	7183	912	32	5	261	5	HIST1H3B	6	26032136	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	1206613	26032136	145082931	34	17227											
PLA2G7	7941	genome.wustl.edu	37	chr6	46684165	46684165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccataagccagtgtgttccaAgaaatttgctaagaccccaa	14	9	7	11	0	0	2	0	0	0	2	1	2	1	2	5	0	2	2	5	0	5	4			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr6:46684165A>G	ENST00000274793.7	-	4	528	c.332T>C	c.(331-333)cTt>cCt	p.L111P	PLA2G7_ENST00000538237.1_Missense_Mutation_p.L66P|PLA2G7_ENST00000537365.1_Missense_Mutation_p.L111P|PLA2G7_ENST00000541026.1_Intron	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	111					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GTGTGTTCCAAGAAATTTGCT	0.388																																																	0													124	125	124					6																	46684165		2203	4300	6503	SO:0001583	missense	0			U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.332T>C	6.37:g.46684165A>G	ENSP00000274793:p.Leu111Pro		A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote	p.L111P	ENST00000274793.7	37	c.332	CCDS4917.1	6	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057754	0.36277	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237	T;T;T	0.60171	0.21;0.21;0.21	5.29	4.13	0.48395	.	0.163737	0.53938	D	0.000048	T	0.68860	0.3047	M	0.87547	2.89	0.80722	D	1	P;D;D	0.89917	0.729;1.0;1.0	B;D;D	0.75020	0.414;0.985;0.985	T	0.73842	-0.3855	10	0.66056	D	0.02	.	9.1713	0.37083	0.9153:0.0:0.0847:0.0	.	66;111;111	F5GYY6;A8K2W6;Q13093	.;.;PAFA_HUMAN	P	111;111;66	ENSP00000274793:L111P;ENSP00000445666:L111P;ENSP00000441416:L66P	ENSP00000274793:L111P	L	-	2	0	PLA2G7	46792124	1.000000	0.71417	0.765000	0.31456	0.081000	0.17604	4.290000	0.59019	0.946000	0.37632	0.460000	0.39030	CTT	PLA2G7	-	pfam_PAF_acetylhydro,pirsf_PAF_acetylhydro_eukaryote	ENSG00000146070		0.388	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G7	HGNC	protein_coding	OTTHUMT00000040802.1	-	0	48	0	A			46684165	-1	tier1	-	no_errors	ENST00000274793	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	G	G	46684165	A	G	46684165	3	3	60	1	0	0	0	0	1	0	0	0	12048	72	3	4	1029	4	PLA2G7	6	46684165	Missense_Mutation	SNP	A	TCGA-L5-A4OM-01A-11D-A27G-09	20652029	46684165	124430902	35	17228											
ATG5	9474	genome.wustl.edu	37	chr6	106649888	106649888	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaacttctttgaggagaTctcctagtgtgtgcaactgt	10	13	10	8	0	2	2	0	1	2	1	3	4	2	2	1	1	3	1	1	1	3	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr6:106649888T>A	ENST00000369076.3	-	7	973	c.650A>T	c.(649-651)gAt>gTt	p.D217V	ATG5_ENST00000475645.1_5'UTR|ATG5_ENST00000343245.3_Missense_Mutation_p.D217V|ATG5_ENST00000369070.1_Missense_Mutation_p.D139V|ATG5_ENST00000360666.4_3'UTR	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	217					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TTTGAGGAGATCTCCTAGTGT	0.363																																																	0													107	100	103					6																	106649888		2203	4300	6503	SO:0001583	missense	0			Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"APG5 (autophagy 5, S. cerevisiae)-like", "APG5 autophagy 5-like (S. cerevisiae)", "ATG5 autophagy related 5 homolog (S. cerevisiae)"	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.650A>T	6.37:g.106649888T>A	ENSP00000358072:p.Asp217Val		O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	pfam_Atg5	p.D217V	ENST00000369076.3	37	c.650	CCDS5055.1	6	.	.	.	.	.	.	.	.	.	.	T	22.0	4.228610	0.79576	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.81128	0.4758	M	0.89785	3.06	0.80722	D	1	D;D	0.63880	0.983;0.993	P;D	0.72625	0.905;0.978	D	0.85541	0.1215	9	0.72032	D	0.01	-13.1997	13.8714	0.63622	0.0:0.0:0.0:1.0	.	139;217	Q9H1Y0-2;Q9H1Y0	.;ATG5_HUMAN	V	217;217;139	.	ENSP00000343313:D217V	D	-	2	0	ATG5	106756581	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	6.164000	0.71885	1.919000	0.55581	0.459000	0.35465	GAT	ATG5	-	pfam_Atg5	ENSG00000057663		0.363	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG5	HGNC	protein_coding	OTTHUMT00000043476.1	-	0	56	0	T	NM_004849		106649888	-1	tier1	-	no_errors	ENST00000343245	ensembl	human	known	74_37	missense	34.69	31	17	SNP	1.000	A	A	106649888	T	A	106649888	3	1	60	1	0	0	0	0	1	0	0	0	1101	1435	50	5	185	5	ATG5	6	106649888	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	59965723	106649888	64465179	36	17229											
TNRC18	84629	genome.wustl.edu	37	chr7	5413711	5413711	+	Frame_Shift_Del	DEL	G	G	-																															aacagggcctggaaggggctGggggcttccttctccaactc																										TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr7:5413711delG	ENST00000430969.1	-	10	3552	c.3204delC	c.(3202-3204)cccfs	p.P1068fs	TNRC18_ENST00000399537.4_Frame_Shift_Del_p.P1068fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1068	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGAAGGGGCTGGGGGCTTCCT	0.607																																																	0													34	39	38					7																	5413711		1940	4141	6081	SO:0001589	frameshift_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3204delC	7.37:g.5413711delG	ENSP00000395538:p.Pro1068fs		A8MX41|Q96JH1|Q96K91	Frame_Shift_Del	DEL	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S1069fs	ENST00000430969.1	37	c.3204	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.607	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding			0	33	0	G			5413711	-1	tier1		no_errors	ENST00000399537	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000	-	-	5413711	G	-	5413711	7	5	60	1	0	1	0	1	0	0	0	0	16386	1335	47	0	5786	0	TNRC18	7	5413711	Frame_Shift_Del	DEL	G	TCGA-L5-A4OM-01A-11D-A27G-09		5413711	153724952	37	17230											
DBF4	10926	genome.wustl.edu	37	chr7	87536898	87536898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaactaagggtagatcactAtaaatgtaacatacaggcat	18	9	8	6	0	1	2	1	0	0	2	1	2	1	2	0	2	3	3	0	2	8	6	rs373255355		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr7:87536898A>G	ENST00000265728.1	+	12	1949	c.1445A>G	c.(1444-1446)tAt>tGt	p.Y482C		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 zinc finger	482					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)	nucleoplasm (GO:0005654)	enzyme activator activity (GO:0008047)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GTAGATCACTATAAATGTAAC	0.358																																																	0								A	CYS/TYR	0,4406		0,0,2203	81	79	80		1445	2.8	0	7		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	DBF4	NM_006716.3	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	482/675	87536898	1,13005	2203	4300	6503	SO:0001583	missense	0			AF160876	CCDS5611.1	7q21.3	2014-02-17	2014-02-17		ENSG00000006634	ENSG00000006634		"Zinc fingers, DBF-type"	17364	protein-coding gene	gene with protein product	"activator of S phase kinase", "chiffon homolog (Drosophila)", "zinc finger, DBF-type containing 1", "DBF4 zinc finger A"	604281	"DBF4 homolog (S. cerevisiae)"			10373557, 10517317	Standard	NM_006716		Approved	ASK, chif, ZDBF1, DBF4A	uc003ujf.1	Q9UBU7	OTTHUMG00000131034	ENST00000265728.1:c.1445A>G	7.37:g.87536898A>G	ENSP00000265728:p.Tyr482Cys		A4D1D8|A8K954|O75226|Q75MS6|Q75N01|Q9Y2M6	Missense_Mutation	SNP	pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF	p.Y482C	ENST00000265728.1	37	c.1445	CCDS5611.1	7	.	.	.	.	.	.	.	.	.	.	A	0.189	-1.055222	0.01965	0.0	1.16E-4	ENSG00000006634	ENST00000265728	T	0.27890	1.64	5.67	2.81	0.32909	.	0.800277	0.11912	N	0.517545	T	0.10423	0.0255	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27971	-1.0058	10	0.32370	T	0.25	0.405	4.3919	0.11344	0.3251:0.1719:0.503:0.0	.	258;482	B7Z8C6;Q9UBU7	.;DBF4A_HUMAN	C	482	ENSP00000265728:Y482C	ENSP00000265728:Y482C	Y	+	2	0	DBF4	87374834	0.023000	0.18921	0.003000	0.11579	0.000000	0.00434	1.466000	0.35310	0.297000	0.22615	-0.248000	0.11899	TAT	DBF4	-	NULL	ENSG00000006634		0.358	DBF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBF4	HGNC	protein_coding	OTTHUMT00000253678.1	-	0	59	0	A	NM_006716		87536898	1	tier1	-	no_errors	ENST00000265728	ensembl	human	known	74_37	missense	18.10	95	21	SNP	0.000	G	G	87536898	A	G	87536898	3	3	60	1	0	0	0	0	1	0	0	0	4257	449	16	4	1491	4	DBF4	7	87536898	Missense_Mutation	SNP	A	TCGA-L5-A4OM-01A-11D-A27G-09	82123187	87536898	71601765	38	17231											
KIAA0020	9933	genome.wustl.edu	37	chr9	2829813	2829813	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatagagctcttccgtCagcatgttcctctgctccaa	7	13	6	15	1	3	1	1	0	2	1	7	1	7	1	4	0	3	4	4	0	2	4	rs200827106		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr9:2829813C>A	ENST00000397885.2	-	8	1019	c.813G>T	c.(811-813)ctG>ctT	p.L271L	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	271	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GCTCTTCCGTCAGCATGTTCC	0.443																																																	0													254	236	242					9																	2829813		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.813G>T	9.37:g.2829813C>A			A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.L271	ENST00000397885.2	37	c.813	CCDS6448.2	9																																																																																			KIAA0020	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	ENSG00000080608		0.443	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	-	0	56	0	C	NM_014878		2829813	-1	tier1	-	no_errors	ENST00000397885	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.990	A	A	2829813	C	A	2829813	2	1	60	1	0	0	0	0	0	0	0	1	8179	813	29	3		3	KIAA0020	9	2829813	Silent	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09		2829813	138383618	39	17232											
KIAA0020	9933	genome.wustl.edu	37	chr9	2834111	2834111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagttgtctgctttgcttCagttctttcttcttcttttt	2	24	6	9	0	6	1	1	1	5	0	6	1	6	1	0	0	2	4	0	0	0	9			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr9:2834111C>T	ENST00000397885.2	-	4	566	c.360G>A	c.(358-360)ctG>ctA	p.L120L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	120						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGCTTTGCTTCAGTTCTTTCT	0.348																																																	0													118	117	117					9																	2834111		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.360G>A	9.37:g.2834111C>T			A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.L120	ENST00000397885.2	37	c.360	CCDS6448.2	9																																																																																			KIAA0020	-	NULL	ENSG00000080608		0.348	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	-	0	65	0	C	NM_014878		2834111	-1	tier1	-	no_errors	ENST00000397885	ensembl	human	known	74_37	silent	18.75	52	12	SNP	0.988	T	T	2834111	C	T	2834111	2	4	60	1	0	0	0	0	0	0	0	1	8179	813	29	3		3	KIAA0020	9	2834111	Silent	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	4298	2834111	138379320	40	17233											
KIAA0020	9933	genome.wustl.edu	37	chr9	2837324	2837324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttttgtgatacttttctCaaagttcctagatgtgactt	10	18	7	6	0	1	3	1	2	1	1	3	3	2	3	1	0	1	2	1	0	4	8			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr9:2837324C>T	ENST00000397885.2	-	3	366	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	54						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATACTTTTCTCAAAGTTCCTA	0.368																																																	0													199	180	186					9																	2837324		1831	4094	5925	SO:0001583	missense	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.160G>A	9.37:g.2837324C>T	ENSP00000380982:p.Glu54Lys		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E54K	ENST00000397885.2	37	c.160	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017952	0.35606	.	.	ENSG00000080608	ENST00000397885	T	0.11604	2.76	4.56	2.68	0.31781	.	0.445750	0.23354	N	0.049098	T	0.06325	0.0163	L	0.27053	0.805	0.33260	D	0.559621	B	0.24258	0.1	B	0.21708	0.036	T	0.30090	-0.9990	10	0.08381	T	0.77	-19.8291	8.4386	0.32801	0.0:0.7626:0.1545:0.0829	.	54	Q15397	K0020_HUMAN	K	54	ENSP00000380982:E54K	ENSP00000380982:E54K	E	-	1	0	KIAA0020	2827324	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.748000	0.38308	0.631000	0.30412	0.655000	0.94253	GAG	KIAA0020	-	NULL	ENSG00000080608		0.368	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	-	0	76	0	C	NM_014878		2837324	-1	tier1	-	no_errors	ENST00000397885	ensembl	human	known	74_37	missense	22.97	57	17	SNP	1.000	T	T	2837324	C	T	2837324	3	4	60	1	0	0	0	0	1	0	0	0	8179	835	29	3	1850	3	KIAA0020	9	2837324	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	3213	2837324	138376107	41	17234											
PTPRD	5789	genome.wustl.edu	37	chr9	8521445	8521445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacatccactttacataagGcattggtgaccccacggcca	12	8	7	14	1	0	1	0	1	0	0	1	1	1	1	4	3	2	1	4	3	3	4			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr9:8521445G>T	ENST00000381196.4	-	17	1336	c.793C>A	c.(793-795)Cct>Act	p.P265T	PTPRD_ENST00000540109.1_Missense_Mutation_p.P265T|PTPRD_ENST00000356435.5_Missense_Mutation_p.P265T|PTPRD_ENST00000537002.1_Missense_Mutation_p.P262T|PTPRD_ENST00000360074.4_Missense_Mutation_p.P252T|PTPRD_ENST00000358503.5_Missense_Mutation_p.P252T|PTPRD_ENST00000397606.3_Missense_Mutation_p.P255T|PTPRD_ENST00000355233.5_Missense_Mutation_p.P265T|PTPRD_ENST00000486161.1_Missense_Mutation_p.P265T|PTPRD_ENST00000397617.3_Missense_Mutation_p.P255T|PTPRD_ENST00000397611.3_Missense_Mutation_p.P262T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	265	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTACATAAGGCATTGGTGAC	0.478										TSP Lung(15;0.13)																																							0													164	144	151					9																	8521445		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.793C>A	9.37:g.8521445G>T	ENSP00000370593:p.Pro265Thr		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.P265T	ENST00000381196.4	37	c.793	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474574	0.84640	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.81	5.81	0.92471	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	H	0.99368	4.535	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.987;0.987;1.0;1.0;1.0	D;D;D;D;P;D;D;D;D	0.97110	1.0;0.998;0.995;0.998;0.765;0.929;1.0;1.0;1.0	D	0.95013	0.8153	9	.	.	.	.	20.0762	0.97745	0.0:0.0:1.0:0.0	.	255;259;265;265;262;262;252;265;265	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	T	265;265;252;252;265;255;262;262;265;265;265;255	ENSP00000370593:P265T;ENSP00000348812:P265T;ENSP00000353187:P252T;ENSP00000351293:P252T;ENSP00000347373:P265T;ENSP00000380741:P255T;ENSP00000380735:P262T;ENSP00000440515:P262T;ENSP00000438164:P265T;ENSP00000417093:P265T;ENSP00000380731:P255T	.	P	-	1	0	PTPRD	8511445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.756000	0.94617	0.655000	0.94253	CCT	PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000153707		0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	29	0	G			8521445	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	80.49	8	33	SNP	1.000	T	T	8521445	G	T	8521445	3	4	60	1	0	0	0	0	1	0	0	0	12844	1203	42	3	5121	3	PTPRD	9	8521445	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	5684121	8521445	132691986	42	17235											
ELAVL2	1993	genome.wustl.edu	37	chr9	23762201	23762201	+	Frame_Shift_Del	DEL	C	C	-																															gaccattggctgtgttattgCaagttggcccattagacagt																										TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr9:23762201delC	ENST00000397312.2	-	2	306	c.32delG	c.(31-33)tgcfs	p.C11fs	ELAVL2_ENST00000544538.1_Frame_Shift_Del_p.C11fs|ELAVL2_ENST00000462649.1_5'Flank|ELAVL2_ENST00000380110.4_Frame_Shift_Del_p.C40fs|ELAVL2_ENST00000223951.6_Frame_Shift_Del_p.C11fs|ELAVL2_ENST00000380117.1_Frame_Shift_Del_p.C11fs	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	11					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGTGTTATTGCAAGTTGGCCC	0.403																																																	0													303	279	287					9																	23762201		2203	4299	6502	SO:0001589	frameshift_variant	0			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.32delG	9.37:g.23762201delC	ENSP00000380479:p.Cys11fs		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.C11fs	ENST00000397312.2	37	c.32	CCDS6515.1	9																																																																																			ELAVL2	-	NULL	ENSG00000107105		0.403	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2		0	71	0	C	NM_004432		23762201	-1	tier1		no_errors	ENST00000380117	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-	-	23762201	C	-	23762201	7	5	60	1	0	1	0	1	0	0	0	0	5066	710	25	0	1071	0	ELAVL2	9	23762201	Frame_Shift_Del	DEL	C	TCGA-L5-A4OM-01A-11D-A27G-09	15240756	23762201	117451230	43	17236											
RAPGEF1	2889	genome.wustl.edu	37	chr9	134525617	134525617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccctctggtagaaatcTgtctgttgcctcctggaaga	8	12	11	10	0	3	2	0	0	3	2	4	3	4	3	3	2	2	3	3	2	4	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr9:134525617T>C	ENST00000372189.3	-	3	286	c.163A>G	c.(163-165)Aga>Gga	p.R55G	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R73G|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.R72G	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	55					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGTAGAAATCTGTCTGTTGCC	0.502																																																	0													48	49	48					9																	134525617		1886	4111	5997	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.163A>G	9.37:g.134525617T>C	ENSP00000361263:p.Arg55Gly		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R73G	ENST00000372189.3	37	c.217	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	T	14.47	2.543598	0.45280	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000372189;ENST00000372190;ENST00000357686;ENST00000427994	T;T;T	0.25912	1.77;1.78;1.78	5.91	5.91	0.95273	.	0.679096	0.15736	N	0.247160	T	0.16727	0.0402	N	0.22421	0.69	0.30335	N	0.786278	B;B;B	0.20887	0.049;0.008;0.013	B;B;B	0.19391	0.016;0.011;0.025	T	0.17048	-1.0382	10	0.12766	T	0.61	.	10.6026	0.45375	0.143:0.0:0.0:0.857	.	72;55;73	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	G	55;72;55;73;72;73	ENSP00000361269:R72G;ENSP00000361263:R55G;ENSP00000361264:R73G	ENSP00000266110:R55G	R	-	1	2	RAPGEF1	133515438	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.749000	0.26320	2.254000	0.74563	0.533000	0.62120	AGA	RAPGEF1	-	NULL	ENSG00000107263		0.502	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	-	0	44	0	T	NM_005312		134525617	-1	tier1	-	no_errors	ENST00000372190	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	C	C	134525617	T	C	134525617	3	2	60	1	0	0	0	0	1	0	0	0	13088	1588	55	4	3158	4	RAPGEF1	9	134525617	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	110763416	134525617	6687814	44	17237											
SLC39A12	221074	genome.wustl.edu	37	chr10	18292265	18292265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcactgctgggatgttctTatatttatccttggttgaaa	9	17	9	6	0	2	1	1	1	1	0	3	2	3	2	1	2	1	3	1	2	4	7			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr10:18292265T>C	ENST00000377369.2	+	12	2198	c.1925T>C	c.(1924-1926)tTa>tCa	p.L642S	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L641S|SLC39A12_ENST00000539911.1_Missense_Mutation_p.L508S|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L605S	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	642					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGATGTTCTTATATTTATCC	0.383																																																	0													144	129	134					10																	18292265		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1925T>C	10.37:g.18292265T>C	ENSP00000366586:p.Leu642Ser		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.L642S	ENST00000377369.2	37	c.1925	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805282	0.70682	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	D	0.83069	0.5174	H	0.95539	3.685	0.53688	D	0.999979	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.88415	0.3024	10	0.87932	D	0	-11.0017	15.7539	0.78009	0.0:0.0:0.0:1.0	.	641;642;605	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	S	642;605;641;508;562	ENSP00000366586:L642S;ENSP00000366591:L605S;ENSP00000366588:L641S;ENSP00000440445:L508S	ENSP00000366586:L642S	L	+	2	0	SLC39A12	18332271	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	6.099000	0.71466	2.189000	0.69895	0.533000	0.62120	TTA	SLC39A12	-	pfam_ZIP	ENSG00000148482		0.383	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	144	0	T	NM_152725		18292265	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	16.89	123	25	SNP	1.000	C	C	18292265	T	C	18292265	3	2	60	1	0	0	0	0	1	0	0	0	14660	1764	61	4	1967	4	SLC39A12	10	18292265	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09		18292265	117242482	45	17238											
FGFR2	2263	genome.wustl.edu	37	chr10	123244982	123244982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttaaaaagttcctccacggGaatccctgggtagggcgagc	10	8	12	11	2	0	0	0	0	0	0	3	2	3	1	3	3	1	2	3	3	5	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr10:123244982G>T	ENST00000358487.5	-	16	2394	c.2122C>A	c.(2122-2124)Ccc>Acc	p.P708T	FGFR2_ENST00000369059.1_Missense_Mutation_p.P594T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P596T|FGFR2_ENST00000351936.6_Missense_Mutation_p.P706T|FGFR2_ENST00000360144.3_Missense_Mutation_p.P620T|FGFR2_ENST00000346997.2_Missense_Mutation_p.P706T|FGFR2_ENST00000357555.5_Missense_Mutation_p.P619T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P591T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P592T|FGFR2_ENST00000457416.2_Missense_Mutation_p.P709T|FGFR2_ENST00000369056.1_Missense_Mutation_p.P709T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P480T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.P708S(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TCCTCCACGGGAATCCCTGGG	0.522		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	1	Substitution - Missense(1)	skin(1)											131	114	120					10																	123244982		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2122C>A	10.37:g.123244982G>T	ENSP00000351276:p.Pro708Thr		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P709T	ENST00000358487.5	37	c.2125	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846604	0.91277	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	5.04	5.04	0.67666	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89522	0.6739	N	0.03324	-0.35	0.80722	D	1	P;D;D;D;D;P;D;D	0.89917	0.677;0.986;1.0;0.999;0.999;0.85;0.999;1.0	P;P;D;D;D;P;D;D	0.83275	0.527;0.906;0.996;0.972;0.991;0.544;0.991;0.983	D	0.93057	0.6471	10	0.87932	D	0	.	18.7566	0.91835	0.0:0.0:1.0:0.0	.	725;707;619;591;708;620;709;611	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	T	619;709;596;708;591;592;594;300;706;709;706;620;709;709;617	ENSP00000350166:P619T;ENSP00000358057:P596T;ENSP00000351276:P708T;ENSP00000348559:P591T;ENSP00000358056:P592T;ENSP00000358055:P594T;ENSP00000404219:P300T;ENSP00000263451:P706T;ENSP00000410294:P709T;ENSP00000309878:P706T;ENSP00000353262:P620T;ENSP00000358052:P709T;ENSP00000358054:P709T;ENSP00000337665:P617T	ENSP00000337665:P617T	P	-	1	0	FGFR2	123234972	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.734000	0.84928	2.496000	0.84212	0.609000	0.83330	CCC	FGFR2	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000066468		0.522	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1		0	32	0	G	NM_022976, NM_000141		123244982	-1			no_errors	ENST00000457416	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	123244982	G	T	123244982	3	4	60	1	0	0	0	0	1	0	0	0	5888	1174	41	3	459	3	FGFR2	10	123244982	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	104952717	123244982	12289765	46	17239											
CDHR5	53841	genome.wustl.edu	37	chr11	621243	621243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggttccacattctcccccGgagtgtcctgcaacagacgg	7	9	11	14	2	1	1	0	0	1	1	4	2	3	2	4	3	2	2	4	3	1	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:621243G>A	ENST00000358353.3	-	8	948	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CDHR5_ENST00000349570.7_Missense_Mutation_p.P209L|CDHR5_ENST00000529337.1_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.P209L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	209	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATTCTCCCCCGGAGTGTCCTG	0.682																																																	0													50	52	51					11																	621243		2203	4299	6502	SO:0001583	missense	0			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.626C>T	11.37:g.621243G>A	ENSP00000351118:p.Pro209Leu		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.P209L	ENST00000358353.3	37	c.626	CCDS7707.1	11	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452852	0.26074	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	T;T;T	0.37235	1.21;1.21;1.21	3.87	-5.22	0.02806	Cadherin (3);Cadherin-like (1);	3.002300	0.01541	N	0.019226	T	0.19644	0.0472	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B	0.31125	0.134;0.309;0.071;0.071;0.181	B;B;B;B;B	0.19946	0.015;0.027;0.008;0.008;0.015	T	0.07635	-1.0762	10	0.26408	T	0.33	0.1364	1.333	0.02138	0.1255:0.2295:0.3022:0.3428	.	209;209;202;209;209	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	L	209	ENSP00000380676:P209L;ENSP00000351118:P209L;ENSP00000345726:P209L	ENSP00000326527:P209L	P	-	2	0	CDHR5	611243	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.307000	0.01132	-0.478000	0.06823	0.561000	0.74099	CCG	CDHR5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000099834		0.682	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	-	0	96	0	G	NM_021924		621243	-1	tier1	-	no_errors	ENST00000358353	ensembl	human	known	74_37	missense	15.74	89	17	SNP	0.000	A	A	621243	G	A	621243	3	1	60	1	0	0	0	0	1	0	0	0	3129	1116	39	1	1947	1	CDHR5	11	621243	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09		621243	134385273	47	17240											
OR2AG2	338755	genome.wustl.edu	37	chr11	6789646	6789646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccaacttcagcaagggtggGatctcacagagcagatgcct	11	7	12	11	0	2	2	2	0	1	2	3	3	2	3	2	2	4	2	2	2	2	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:6789646G>A	ENST00000338569.2	-	1	640	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAAGGGTGGGATCTCACAGA	0.498																																																	0													115	97	103					11																	6789646		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.543C>T	11.37:g.6789646G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I181	ENST00000338569.2	37	c.543	CCDS31413.1	11																																																																																			OR2AG2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000188124		0.498	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG2	HGNC	protein_coding	OTTHUMT00000386775.1	-	0	41	0	G	NM_001004490		6789646	-1	tier1	-	no_errors	ENST00000338569	ensembl	human	known	74_37	silent	42.86	44	33	SNP	0.555	A	A	6789646	G	A	6789646	2	1	60	1	0	0	0	0	0	0	0	1	11024	1164	41	3		3	OR2AG2	11	6789646	Silent	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	6168403	6789646	128216870	48	17241											
NLRP14	338323	genome.wustl.edu	37	chr11	7064670	7064670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attattcagaaggacgcagaGtatgaaaactgctatgtgtt	14	12	10	5	1	1	3	1	1	0	2	1	4	1	4	0	1	2	4	0	1	6	5			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:7064670G>T	ENST00000299481.4	+	4	1759	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	471	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGACGCAGAGTATGAAAACT	0.408																																																	0													97	101	100					11																	7064670		2201	4296	6497	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1413G>T	11.37:g.7064670G>T	ENSP00000299481:p.Glu471Asp		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E471D	ENST00000299481.4	37	c.1413	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.792367	0.00623	.	.	ENSG00000158077	ENST00000299481	D	0.88741	-2.42	4.21	-2.92	0.05615	.	0.280833	0.25619	N	0.029433	T	0.74489	0.3723	N	0.25992	0.78	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.58668	-0.7596	10	0.20046	T	0.44	.	4.4415	0.11577	0.3981:0.3118:0.2901:0.0	.	471	Q86W24	NAL14_HUMAN	D	471	ENSP00000299481:E471D	ENSP00000299481:E471D	E	+	3	2	NLRP14	7021246	0.000000	0.05858	0.041000	0.18516	0.143000	0.21401	-1.570000	0.02140	-0.326000	0.08564	-0.244000	0.11960	GAG	NLRP14	-	NULL	ENSG00000158077		0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1		0	21	0	G	NM_176822		7064670	1			no_errors	ENST00000299481	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.004	T	T	7064670	G	T	7064670	3	4	60	1	0	0	0	0	1	0	0	0	10515	1020	36	3	1423	3	NLRP14	11	7064670	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	275024	7064670	127941846	49	17242											
LDLRAD3	143458	genome.wustl.edu	37	chr11	36119944	36119944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgtattgacaagagCttcatctgcgatggacagaa	11	10	11	9	1	3	3	1	1	2	2	3	5	3	4	1	2	2	2	1	2	3	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:36119944C>T	ENST00000315571.5	+	4	408	c.387C>T	c.(385-387)agC>agT	p.S129S	LDLRAD3_ENST00000524419.1_Silent_p.S80S|LDLRAD3_ENST00000528989.1_Silent_p.S80S	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	129	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TTGACAAGAGCTTCATCTGCG	0.478																																																	0													101	85	90					11																	36119944		2202	4298	6500	SO:0001819	synonymous_variant	0			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.387C>T	11.37:g.36119944C>T			B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.S129	ENST00000315571.5	37	c.387	CCDS31462.1	11																																																																																			LDLRAD3	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000179241		0.478	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD3	HGNC	protein_coding	OTTHUMT00000389085.1	-	0	47	0	C	NM_174902		36119944	1	tier1	-	no_errors	ENST00000315571	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T	T	36119944	C	T	36119944	2	4	60	1	0	0	0	0	0	0	0	1	8735	796	28	3		3	LDLRAD3	11	36119944	Silent	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	29055274	36119944	98886572	50	17243											
PRR5L	79899	genome.wustl.edu	37	chr11	36422705	36422705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgctcccattctgcccgtcGagttccacaagatgggctcc	6	10	9	16	3	1	1	0	0	1	1	6	2	4	1	4	1	1	3	4	1	1	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:36422705G>A	ENST00000378867.3	+	3	389	c.34G>A	c.(34-36)Gag>Aag	p.E12K	PRR5L_ENST00000389693.3_Intron|PRR5L_ENST00000527487.1_Missense_Mutation_p.E12K|PRR5L_ENST00000311599.5_5'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.E12K	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	12					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TCTGCCCGTCGAGTTCCACAA	0.607																																																	0													53	46	48					11																	36422705		2202	4298	6500	SO:0001583	missense	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.34G>A	11.37:g.36422705G>A	ENSP00000368144:p.Glu12Lys		A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	pfam_HbrB	p.E12K	ENST00000378867.3	37	c.34	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	G	13.46	2.245217	0.39697	.	.	ENSG00000135362	ENST00000530639;ENST00000527172;ENST00000532121;ENST00000526728;ENST00000378867;ENST00000524380;ENST00000526682;ENST00000530252;ENST00000530050;ENST00000526679;ENST00000527487	T;T;T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.24	5.24	0.73138	.	0.324362	0.29185	N	0.012887	T	0.16938	0.0407	N	0.24115	0.695	0.80722	D	1	P;P	0.48998	0.539;0.918	B;B	0.30716	0.041;0.119	T	0.04495	-1.0947	10	0.40728	T	0.16	-0.2165	13.5307	0.61621	0.0:0.2868:0.7132:0.0	.	12;12	E9PKY1;Q6MZQ0	.;PRR5L_HUMAN	K	12	ENSP00000435050:E12K;ENSP00000433708:E12K;ENSP00000433893:E12K;ENSP00000431610:E12K;ENSP00000368144:E12K;ENSP00000433305:E12K;ENSP00000436485:E12K;ENSP00000431475:E12K;ENSP00000432203:E12K;ENSP00000436402:E12K;ENSP00000435241:E12K	ENSP00000368144:E12K	E	+	1	0	PRR5L	36379281	0.986000	0.35501	0.924000	0.36721	0.154000	0.21943	3.606000	0.54095	2.440000	0.82611	0.655000	0.94253	GAG	PRR5L	-	NULL	ENSG00000135362		0.607	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	-	0	45	0	G	NM_024841		36422705	1	tier1	-	no_errors	ENST00000378867	ensembl	human	known	74_37	missense	42.00	29	21	SNP	0.949	A	A	36422705	G	A	36422705	3	1	60	1	0	0	0	0	1	0	0	0	12644	1059	37	1	42	1	PRR5L	11	36422705	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	302761	36422705	98583811	51	17244											
OR4C46	119749	genome.wustl.edu	37	chr11	51515594	51515594	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtctttggagaacatttcTtcggaggtgcagagggcatc	10	11	13	7	1	2	2	0	0	2	2	4	4	2	3	0	4	2	2	0	4	2	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:51515594T>C	ENST00000328188.1	+	1	313	c.313T>C	c.(313-315)Ttc>Ctc	p.F105L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGAACATTTCTTCGGAGGTGC	0.458																																																	0													139	133	135					11																	51515594		2201	4296	6497	SO:0001583	missense	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"GPCR / Class A : Olfactory receptors"	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.313T>C	11.37:g.51515594T>C	ENSP00000329056:p.Phe105Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F105L	ENST00000328188.1	37	c.313	CCDS31498.1	11	.	.	.	.	.	.	.	.	.	.	.	2.507	-0.313781	0.05422	.	.	ENSG00000185926	ENST00000328188	T	0.00966	5.49	2.63	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000261	T	0.00784	0.0026	N	0.25332	0.735	0.09310	N	1	B	0.20887	0.049	B	0.20955	0.032	T	0.48490	-0.9031	10	0.48119	T	0.1	.	5.6752	0.17745	0.0:0.1514:0.0:0.8486	.	105	A6NHA9	O4C46_HUMAN	L	105	ENSP00000329056:F105L	ENSP00000329056:F105L	F	+	1	0	OR4C46	51372170	0.000000	0.05858	0.475000	0.27278	0.025000	0.11179	-0.325000	0.07976	1.239000	0.43787	0.113000	0.15668	TTC	OR4C46	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000185926		0.458	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	-	0	106	0	T	NM_001004703		51515594	1	tier1	-	no_errors	ENST00000328188	ensembl	human	known	74_37	missense	25.00	84	28	SNP	0.005	C	C	51515594	T	C	51515594	3	2	60	1	0	0	0	0	1	0	0	0	11090	1609	56	4	315	4	OR4C46	11	51515594	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	15092889	51515594	83490922	52	17245											
MTA2	9219	genome.wustl.edu	37	chr11	62362771	62362771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattggcattgataggagcaTaaggccgtcgggcggccctc	8	8	14	11	3	0	1	0	1	0	0	2	2	0	2	2	5	1	2	2	5	2	4			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:62362771T>C	ENST00000278823.2	-	14	1837	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	MTA2_ENST00000527204.1_Missense_Mutation_p.Y310C|MTA2_ENST00000524902.1_Missense_Mutation_p.Y310C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	483					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GATAGGAGCATAAGGCCGTCG	0.552																																																	0													98	97	97					11																	62362771		2202	4299	6501	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1448A>G	11.37:g.62362771T>C	ENSP00000278823:p.Tyr483Cys		Q68DB1|Q9UQB5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.Y483C	ENST00000278823.2	37	c.1448	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118423	0.56505	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.47177	1.44;0.85;0.85	5.34	5.34	0.76211	.	0.120439	0.64402	D	0.000018	T	0.61211	0.2329	M	0.68593	2.085	0.58432	D	0.999999	D	0.76494	0.999	P	0.58454	0.839	T	0.63287	-0.6671	10	0.48119	T	0.1	-11.598	13.2657	0.60133	0.0:0.0:0.0:1.0	.	483	O94776	MTA2_HUMAN	C	483;310;310	ENSP00000278823:Y483C;ENSP00000431346:Y310C;ENSP00000431797:Y310C	ENSP00000278823:Y483C	Y	-	2	0	MTA2	62119347	1.000000	0.71417	0.195000	0.23364	0.956000	0.61745	4.622000	0.61240	2.020000	0.59435	0.533000	0.62120	TAT	MTA2	-	NULL	ENSG00000149480		0.552	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	-	0	39	0	T	NM_004739		62362771	-1	tier1	-	no_errors	ENST00000278823	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.999	C	C	62362771	T	C	62362771	3	2	60	1	0	0	0	0	1	0	0	0	9947	1406	49	4	578	4	MTA2	11	62362771	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	10847177	62362771	72643745	53	17246											
CDC42BPG	55561	genome.wustl.edu	37	chr11	64606671	64606671	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggatctcaggggagataTagtccggcgtccctactgcc	8	8	13	12	2	1	1	1	0	1	1	4	3	3	2	3	4	2	1	3	4	3	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:64606671T>A	ENST00000342711.5	-	7	709	c.710A>T	c.(709-711)tAt>tTt	p.Y237F		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGGGGAGATATAGTCCGGCGT	0.617																																																	0													104	98	100					11																	64606671		2201	4297	6498	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.710A>T	11.37:g.64606671T>A	ENSP00000345133:p.Tyr237Phe			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.Y237F	ENST00000342711.5	37	c.710	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896693	0.91962	.	.	ENSG00000171219	ENST00000342711	T	0.57107	0.42	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47455	D	0.000234	T	0.74520	0.3727	M	0.84683	2.71	0.50313	D	0.999866	D	0.76494	0.999	D	0.83275	0.996	T	0.79293	-0.1863	10	0.87932	D	0	.	13.4205	0.60994	0.0:0.0:0.0:1.0	.	237	Q6DT37	MRCKG_HUMAN	F	237	ENSP00000345133:Y237F	ENSP00000345133:Y237F	Y	-	2	0	CDC42BPG	64363247	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.964000	0.70379	2.118000	0.64928	0.533000	0.62120	TAT	CDC42BPG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171219		0.617	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0	31	0	T	XM_290516		64606671	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	26.92	18	7	SNP	1.000	A	A	64606671	T	A	64606671	3	1	60	1	0	0	0	0	1	0	0	0	3081	1406	49	5	4069	5	CDC42BPG	11	64606671	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	2243900	64606671	70399845	54	17247											
SIPA1	6494	genome.wustl.edu	37	chr11	65409978	65409978	+	Frame_Shift_Del	DEL	G	G	-																															tcggaggacgcgctgccgccGgggcccccacggggtctgtc																										TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr11:65409978delG	ENST00000394224.3	+	4	1148	c.852delG	c.(850-852)ccgfs	p.P284fs	SIPA1_ENST00000534313.1_Frame_Shift_Del_p.P284fs|SIPA1_ENST00000527525.1_Frame_Shift_Del_p.P284fs|SIPA1_ENST00000394227.3_Frame_Shift_Del_p.P284fs	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	284					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CGCTGCCGCCGGGGCCCCCAC	0.672																																																	0													16	18	17					11																	65409978		2199	4285	6484	SO:0001589	frameshift_variant	0			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.852delG	11.37:g.65409978delG	ENSP00000377771:p.Pro284fs		O14518|O60484|O60618|Q2YD83	Frame_Shift_Del	DEL	pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.P287fs	ENST00000394224.3	37	c.852	CCDS8108.1	11																																																																																			SIPA1	-	NULL	ENSG00000213445		0.672	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1		0	50	0	G	NM_006747		65409978	1	tier1		no_errors	ENST00000394224	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.287	-	-	65409978	G	-	65409978	7	5	60	1	0	1	0	1	0	0	0	0	14373	1103	39	0	862	0	SIPA1	11	65409978	Frame_Shift_Del	DEL	G	TCGA-L5-A4OM-01A-11D-A27G-09	803307	65409978	69596538	55	17248											
ZNF385A	25946	genome.wustl.edu	37	chr12	54764422	54764422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccgccagctccccGgcgcccctagacttcttgtg	4	8	10	19	3	2	1	1	0	1	1	3	1	3	1	7	2	1	1	7	2	1	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr12:54764422G>A	ENST00000338010.5	-	7	971	c.918C>T	c.(916-918)gcC>gcT	p.A306A	ZNF385A_ENST00000352268.6_Silent_p.A225A|ZNF385A_ENST00000551771.1_Silent_p.A205A|ZNF385A_ENST00000394313.2_Silent_p.A286A|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Silent_p.A286A|ZNF385A_ENST00000546970.1_Silent_p.A286A	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	306	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCAGCTCCCCGGCGCCCCTAG	0.706											OREG0021894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													17	22	20					12																	54764422		2197	4297	6494	SO:0001819	synonymous_variant	0			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"zinc finger protein 385"	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.918C>T	12.37:g.54764422G>A		1002	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.A306	ENST00000338010.5	37	c.918	CCDS44911.1	12																																																																																			ZNF385A	-	NULL	ENSG00000161642		0.706	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	-	0	17	0	G	NM_015481		54764422	-1	tier1	-	no_errors	ENST00000338010	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.673	A	A	54764422	G	A	54764422	2	1	60	1	0	0	0	0	0	0	0	1	17924	1103	39	1		1	ZNF385A	12	54764422	Silent	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09		54764422	79087473	56	17249											
LIN7A	8825	genome.wustl.edu	37	chr12	81205437	81205437	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgagtagttccacagctTtctcatggtgttctccttcc	5	16	7	13	0	2	1	1	1	2	0	6	1	4	1	4	1	1	4	4	1	1	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr12:81205437T>G	ENST00000552864.1	-	5	711	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	170	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TTCCACAGCTTTCTCATGGTG	0.433																																																	0													126	109	115					12																	81205437		2203	4300	6503	SO:0001583	missense	0			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"mammalian LIN-7 1"	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.509A>C	12.37:g.81205437T>G	ENSP00000447488:p.Lys170Thr		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.K170T	ENST00000552864.1	37	c.509	CCDS9021.1	12	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412039	0.62511	.	.	ENSG00000111052	ENST00000552864	T	0.53206	0.63	5.13	3.99	0.46301	PDZ/DHR/GLGF (4);	0.178640	0.56097	D	0.000026	T	0.45637	0.1352	N	0.11698	0.16	0.80722	D	1	D	0.60575	0.988	P	0.62560	0.904	T	0.50311	-0.8843	10	0.87932	D	0	-15.7176	10.5411	0.45033	0.0:0.0759:0.0:0.9241	.	170	O14910	LIN7A_HUMAN	T	170	ENSP00000447488:K170T	ENSP00000447488:K170T	K	-	2	0	LIN7A	79729568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.257000	0.58816	0.817000	0.34445	0.482000	0.46254	AAA	LIN7A	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Lin-7_homologue,pfscan_PDZ	ENSG00000111052		0.433	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1	-	0	46	0	T			81205437	-1	tier1	-	no_errors	ENST00000552864	ensembl	human	known	74_37	missense	43.33	34	26	SNP	1.000	G	G	81205437	T	G	81205437	3	3	60	1	0	0	0	0	1	0	0	0	8840	1841	64	4	196	4	LIN7A	12	81205437	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	26441015	81205437	52646458	57	17250											
C12orf51	283450	genome.wustl.edu	37	chr12	112717042	112717042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacttactttttaaagaTgacaaaccacttgttccacc	13	14	3	11	0	1	2	1	1	0	1	2	2	2	2	3	0	2	1	3	0	4	7	rs373751710		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr12:112717042T>C	ENST00000430131.2	-	9	1640	c.495A>G	c.(493-495)tcA>tcG	p.S165S	HECTD4_ENST00000550722.1_Silent_p.S415S|HECTD4_ENST00000377560.5_Silent_p.S415S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	165					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTTTTAAAGATGACAAACCAC	0.398																																																	0								T		1,3691		0,1,1845	72	71	71		1245	-2.8	1	12		71	0,8170		0,0,4085	no	coding-synonymous	C12orf51	NM_001109662.2		0,1,5930	CC,CT,TT		0.0,0.0271,0.0084		415/4247	112717042	1,11861	1846	4085	5931	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.495A>G	12.37:g.112717042T>C			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S415	ENST00000430131.2	37	c.1245		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.398	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	37	0	T	NM_173813		112717042	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	37.50	20	12	SNP	0.669	C	C	112717042	T	C	112717042	2	2	60	1	0	0	0	0	0	0	0	1	1701	1451	51	4		4	C12orf51	12	112717042	Silent	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	31511605	112717042	21134853	58	17251											
FAM123A	219287	genome.wustl.edu	37	chr13	25744194	25744194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggagtcccagtagccctCgtcgctgttggggacgcctt	4	10	15	12	3	0	0	0	0	0	0	3	2	1	2	3	4	1	3	3	4	1	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr13:25744194C>T	ENST00000515384.1	-	1	2231	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	AMER2_ENST00000381853.3_Missense_Mutation_p.E403K|AMER2_ENST00000357816.2_Missense_Mutation_p.E403K|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	522					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E522*(1)|p.E403*(1)									CAGTAGCCCTCGTCGCTGTTG	0.662																																																	2	Substitution - Nonsense(2)	lung(2)											68	64	65					13																	25744194		2203	4300	6503	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1564G>A	13.37:g.25744194C>T	ENSP00000426528:p.Glu522Lys		Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.E522K	ENST00000515384.1	37	c.1564	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107481	0.77096	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.47528	0.84;0.84;0.84	4.98	1.14	0.20703	.	0.173505	0.49916	N	0.000131	T	0.38295	0.1035	L	0.55743	1.74	0.49582	D	0.999803	P;P	0.47841	0.901;0.719	B;B	0.38755	0.281;0.109	T	0.23119	-1.0197	10	0.59425	D	0.04	-6.7672	10.0393	0.42148	0.0:0.5344:0.3925:0.073	.	522;403	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	K	403;403;522	ENSP00000350469:E403K;ENSP00000371277:E403K;ENSP00000426528:E522K	ENSP00000350469:E403K	E	-	1	0	FAM123A	24642194	0.980000	0.34600	0.938000	0.37757	0.991000	0.79684	2.482000	0.45224	-0.001000	0.14495	0.561000	0.74099	GAG	AMER2	-	pfam_Uncharacterised_FAM123	ENSG00000165566		0.662	AMER2-002	KNOWN	basic|CCDS	protein_coding	AMER2	HGNC	protein_coding	OTTHUMT00000370229.1	-	0	46	0	C	NM_152704		25744194	-1	tier1	-	no_errors	ENST00000515384	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	T	T	25744194	C	T	25744194	3	4	60	1	0	0	0	0	1	0	0	0	5441	893	31	1	455	1	FAM123A	13	25744194	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09		25744194	89425684	59	17252											
MTUS2	23281	genome.wustl.edu	37	chr13	29675026	29675026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggcggcatttggctttGtccggagctccagcgtctcc	5	11	12	13	3	1	0	0	0	1	0	4	1	3	1	3	4	3	3	3	4	1	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr13:29675026G>A	ENST00000431530.3	+	3	2651	c.2593G>A	c.(2593-2595)Gtc>Atc	p.V865I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	855	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATTTGGCTTTGTCCGGAGCTC	0.617																																																	0													9	10	10					13																	29675026		2017	4170	6187	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2593G>A	13.37:g.29675026G>A	ENSP00000392057:p.Val865Ile		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.V865I	ENST00000431530.3	37	c.2593	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	G	17.28	3.349399	0.61183	.	.	ENSG00000132938	ENST00000431530	T	0.23552	1.9	5.66	4.82	0.62117	.	0.089050	0.42682	D	0.000672	T	0.31949	0.0813	M	0.70275	2.135	0.80722	D	1	P	0.41524	0.753	B	0.41174	0.349	T	0.08700	-1.0709	9	.	.	.	.	13.625	0.62159	0.0745:0.0:0.9255:0.0	.	855	Q5JR59	MTUS2_HUMAN	I	865	ENSP00000392057:V865I	.	V	+	1	0	MTUS2	28573026	1.000000	0.71417	0.953000	0.39169	0.265000	0.26407	5.897000	0.69831	1.389000	0.46526	0.563000	0.77884	GTC	MTUS2	-	NULL	ENSG00000132938		0.617	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	92	0	G	XM_166270		29675026	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	A	A	29675026	G	A	29675026	3	1	60	1	0	0	0	0	1	0	0	0	10004	1377	48	3	2603	3	MTUS2	13	29675026	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	3930832	29675026	85494852	60	17253											
NBEA	26960	genome.wustl.edu	37	chr13	35632959	35632959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgaagcactcaacccaGcacagatatttgcaattcat	14	10	6	11	0	3	2	3	1	0	1	3	2	3	2	1	0	4	3	1	0	4	3			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr13:35632959G>A	ENST00000400445.3	+	8	1732	c.1198G>A	c.(1198-1200)Gca>Aca	p.A400T	NBEA_ENST00000379939.2_Missense_Mutation_p.A400T|NBEA_ENST00000310336.4_Missense_Mutation_p.A400T|NBEA_ENST00000540320.1_Missense_Mutation_p.A400T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	400					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACTCAACCCAGCACAGATATT	0.378																																																	0													36	33	34					13																	35632959		1811	4070	5881	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1198G>A	13.37:g.35632959G>A	ENSP00000383295:p.Ala400Thr		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A400T	ENST00000400445.3	37	c.1198	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551989	0.86127	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78560	-0.2157	10	0.21014	T	0.42	.	19.161	0.93531	0.0:0.0:1.0:0.0	.	400	Q5T321	.	T	400	ENSP00000440951:A400T;ENSP00000383295:A400T;ENSP00000369271:A400T;ENSP00000308534:A400T	ENSP00000308534:A400T	A	+	1	0	NBEA	34530959	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.731000	0.84895	2.613000	0.88420	0.650000	0.86243	GCA	NBEA	-	NULL	ENSG00000172915		0.378	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	62	0	G	NM_015678		35632959	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	35632959	G	A	35632959	3	1	60	1	0	0	0	0	1	0	0	0	10225	971	34	3	1228	3	NBEA	13	35632959	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	5957933	35632959	79536919	61	17254											
PCCA	5095	genome.wustl.edu	37	chr13	100953829	100953829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatattcgcatcaacggctGggcagttgaatgtcgggttt	8	13	13	7	3	1	2	1	2	0	0	3	2	1	2	0	3	1	5	0	3	3	4			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr13:100953829G>T	ENST00000376285.1	+	13	1219	c.1181G>T	c.(1180-1182)tGg>tTg	p.W394L	PCCA_ENST00000376286.4_Missense_Mutation_p.W368L|PCCA_ENST00000376279.3_Missense_Mutation_p.W394L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	394	Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATCAACGGCTGGGCAGTTGAA	0.483																																																	0													163	152	156					13																	100953829		2203	4300	6503	SO:0001583	missense	0			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1181G>T	13.37:g.100953829G>T	ENSP00000365462:p.Trp394Leu		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.W394L	ENST00000376285.1	37	c.1181	CCDS9496.2	13	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637056	0.87760	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.86562	-2.14;-2.14;-2.14	5.86	5.86	0.93980	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.95443	0.8520	M	0.92555	3.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.987;0.98	D	0.95430	0.8515	10	0.72032	D	0.01	-18.6941	20.5632	0.99335	0.0:0.0:1.0:0.0	.	394;368;394	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	L	368;394;394	ENSP00000365463:W368L;ENSP00000365456:W394L;ENSP00000365462:W394L	ENSP00000365456:W394L	W	+	2	0	PCCA	99751830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.521000	0.98029	2.937000	0.99478	0.650000	0.86243	TGG	PCCA	-	superfamily_Rudment_hybrid_motif,pfscan_Biotin_carboxylation_dom	ENSG00000175198		0.483	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2		0	53	0	G			100953829	1			no_errors	ENST00000376285	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	100953829	G	T	100953829	3	4	60	1	0	0	0	0	1	0	0	0	11543	1357	47	3	1231	3	PCCA	13	100953829	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	65320870	100953829	14216049	62	17255											
RTN1	6252	genome.wustl.edu	37	chr14	60212843	60212843	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcacctcctcgggtctggTtatgtcaatgtatttatagg	7	16	9	9	1	3	0	2	0	1	0	5	0	4	0	2	3	0	2	2	3	5	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr14:60212843T>G	ENST00000267484.5	-	2	933	c.598A>C	c.(598-600)Acc>Ccc	p.T200P		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	200					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCGGGTCTGGTTATGTCAATG	0.448																																																	0													239	233	235					14																	60212843		2203	4300	6503	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.598A>C	14.37:g.60212843T>G	ENSP00000267484:p.Thr200Pro		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.T200P	ENST00000267484.5	37	c.598	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	T	13.13	2.144667	0.37825	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.24350	1.86	5.7	-1.15	0.09709	.	0.346876	0.26627	N	0.023328	T	0.22126	0.0533	M	0.63428	1.95	0.09310	N	1	D	0.56035	0.974	P	0.45913	0.497	T	0.13764	-1.0497	10	0.51188	T	0.08	.	1.9554	0.03375	0.1191:0.2011:0.1239:0.5559	.	200	Q16799	RTN1_HUMAN	P	200;126	ENSP00000267484:T200P	ENSP00000267484:T200P	T	-	1	0	RTN1	59282596	1.000000	0.71417	0.539000	0.28077	0.423000	0.31445	1.618000	0.36954	-0.111000	0.12001	-0.503000	0.04515	ACC	RTN1	-	NULL	ENSG00000139970		0.448	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0	58	0	T			60212843	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	42.50	23	17	SNP	0.127	G	G	60212843	T	G	60212843	3	3	60	1	0	0	0	0	1	0	0	0	13770	1725	60	4	1829	4	RTN1	14	60212843	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09		60212843	47136697	63	17256											
ALDH6A1	4329	genome.wustl.edu	37	chr14	74551066	74551066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcctgcaggatccgggctCgcactgccgccgccgccaat	5	6	12	18	6	0	0	0	0	0	0	3	1	1	1	6	2	2	3	6	2	1	0			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr14:74551066C>T	ENST00000553458.1	-	1	130	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	LIN52_ENST00000555028.1_5'Flank|ALDH6A1_ENST00000556852.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.R11Q	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	11					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		GATCCGGGCTCGCACTGCCGC	0.682																																																	0													20	20	20					14																	74551066		2197	4297	6494	SO:0001583	missense	0			M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"Aldehyde dehydrogenases"	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.32G>A	14.37:g.74551066C>T	ENSP00000450436:p.Arg11Gln		B2R609|B4DFS8|J3KNU8|Q9UKM8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH	p.R11Q	ENST00000553458.1	37	c.32	CCDS9826.1	14	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032128	0.54790	.	.	ENSG00000119711	ENST00000553458;ENST00000350259	T;T	0.75938	-0.98;-0.95	5.38	4.5	0.54988	.	0.740751	0.13043	N	0.418354	T	0.53610	0.1807	N	0.08118	0	0.80722	D	1	B;B	0.21147	0.052;0.052	B;B	0.08055	0.003;0.003	T	0.47711	-0.9096	10	0.30854	T	0.27	.	10.06	0.42268	0.0:0.9096:0.0:0.0904	.	11;11	B4DFS8;Q02252	.;MMSA_HUMAN	Q	11	ENSP00000450436:R11Q;ENSP00000342564:R11Q	ENSP00000342564:R11Q	R	-	2	0	ALDH6A1	73620819	0.980000	0.34600	0.834000	0.33040	0.141000	0.21300	2.099000	0.41767	1.518000	0.48934	-0.150000	0.13652	CGA	ALDH6A1	-	NULL	ENSG00000119711		0.682	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH6A1	HGNC	protein_coding	OTTHUMT00000412309.1	-	0	96	0	C			74551066	-1	tier1	-	no_errors	ENST00000553458	ensembl	human	known	74_37	missense	12.50	56	8	SNP	0.771	T	T	74551066	C	T	74551066	3	4	60	1	0	0	0	0	1	0	0	0	503	884	31	1	1623	1	ALDH6A1	14	74551066	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	14338223	74551066	32798474	64	17257											
JMJD7	100137047	genome.wustl.edu	37	chr15	42127814	42127814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgatgctgtgaacttctgGctgggggaggcggctgcagt	5	9	17	10	2	1	1	0	1	1	0	1	3	1	2	1	5	3	4	1	5	1	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr15:42127814G>A	ENST00000397299.4	+	4	541	c.501G>A	c.(499-501)tgG>tgA	p.W167*	JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.W167*|JMJD7_ENST00000408047.1_Nonsense_Mutation_p.W68*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.W167*|PLA2G4B_ENST00000452633.1_5'Flank|PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.W167*|JMJD7-PLA2G4B_ENST00000476036.1_3'UTR	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	167	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.									NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						TGAACTTCTGGCTGGGGGAGG	0.592																																																	0													88	87	88					15																	42127814		2203	4300	6503	SO:0001587	stop_gained	0				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.501G>A	15.37:g.42127814G>A	ENSP00000380467:p.Trp167*		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Nonsense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.W167*	ENST00000397299.4	37	c.501	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	35	5.577570	0.96565	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000431823;ENST00000405106;ENST00000542534;ENST00000335032;ENST00000382448;ENST00000342159	.	.	.	4.62	4.62	0.57501	.	0.000000	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0222	17.1133	0.86682	0.0:0.0:1.0:0.0	.	.	.	.	X	167;68;68;68;167;68;167;167	.	ENSP00000380467:W167X	W	+	3	0	JMJD7-PLA2G4B;JMJD7	39915106	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	8.657000	0.91106	2.497000	0.84241	0.655000	0.94253	TGG	JMJD7-PLA2G4B	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000168970		0.592	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000326082.1	-	0	57	0	G	NM_001114632		42127814	1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	A	A	42127814	G	A	42127814	4	1	60	1	0	0	0	0	0	1	0	0	7981	1212	42	3	515	3	JMJD7	15	42127814	Nonsense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09		42127814	60403578	65	17258											
SPTBN5	51332	genome.wustl.edu	37	chr15	42147090	42147090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccccgctccagggtgcCtgccaacttcctcagggcat	6	8	10	17	1	1	0	1	0	0	0	3	0	3	0	6	2	4	3	6	2	1	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr15:42147090C>T	ENST00000320955.6	-	56	9735	c.9508G>A	c.(9508-9510)Ggc>Agc	p.G3170S	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3170					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGGGTGCCTGCCAACTTC	0.577																																																	0													61	64	63					15																	42147090		1935	4135	6070	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9508G>A	15.37:g.42147090C>T	ENSP00000317790:p.Gly3170Ser			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.G3170S	ENST00000320955.6	37	c.9508		15	.	.	.	.	.	.	.	.	.	.	.	4.355	0.065371	0.08388	.	.	ENSG00000137877	ENST00000320955	T	0.33865	1.39	5.2	1.2	0.21068	.	1.481950	0.04069	N	0.307666	T	0.23572	0.0570	N	0.17674	0.51	0.09310	N	1	P	0.39352	0.669	B	0.43838	0.433	T	0.12293	-1.0553	10	0.07644	T	0.81	.	1.1551	0.01794	0.2467:0.4096:0.109:0.2346	.	3170	Q9NRC6	SPTN5_HUMAN	S	3170	ENSP00000317790:G3170S	ENSP00000317790:G3170S	G	-	1	0	SPTBN5	39934382	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.013000	0.12678	-0.032000	0.13758	0.655000	0.94253	GGC	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.577	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1		0	32	0	C	NM_016642		42147090	-1			no_errors	ENST00000320955	ensembl	human	known	74_37	missense	18.60	35	8	SNP	0.000	T	T	42147090	C	T	42147090	3	4	60	1	0	0	0	0	1	0	0	0	15169	681	24	3	1568	3	SPTBN5	15	42147090	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	19276	42147090	60384302	66	17259											
ZSCAN29	146050	genome.wustl.edu	37	chr15	43654034	43654034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccctgatgaagatacCggggaattttcctttcagat	10	14	8	9	1	1	4	1	2	0	2	2	5	2	5	3	2	2	0	3	2	4	6	rs141880595		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr15:43654034C>A	ENST00000396976.2	-	5	1930	c.1796G>T	c.(1795-1797)cGg>cTg	p.R599L	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.G528C|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R210L|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R209L	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	599					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R599Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		ATGAAGATACCGGGGAATTTT	0.438																																																	1	Substitution - Missense(1)	skin(1)											127	121	123					15																	43654034		2201	4299	6500	SO:0001583	missense	0			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"-", "Zinc fingers, C2H2-type"	26673	protein-coding gene	gene with protein product			"zinc finger protein 690"	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1796G>T	15.37:g.43654034C>A	ENSP00000380174:p.Arg599Leu		B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R599L	ENST00000396976.2	37	c.1796	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	C	2.389	-0.340383	0.05243	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.07800	3.16;3.17	4.87	-0.825	0.10809	.	1.195060	0.05847	N	0.620410	T	0.09730	0.0239	L	0.59436	1.845	0.09310	N	1	B;B	0.25007	0.002;0.116	B;B	0.20384	0.004;0.029	T	0.42224	-0.9464	10	0.25106	T	0.35	2.3123	8.6464	0.34007	0.0:0.4459:0.0:0.5541	.	210;599	Q8IWY8-4;Q8IWY8	.;ZSC29_HUMAN	L	599;210	ENSP00000380174:R599L;ENSP00000380170:R210L	ENSP00000380170:R210L	R	-	2	0	ZSCAN29	41441326	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.508000	0.02266	-0.026000	0.13895	0.655000	0.94253	CGG	ZSCAN29	-	NULL	ENSG00000140265		0.438	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	-	0	50	0	C	NM_152455		43654034	-1	tier1	-	no_errors	ENST00000396976	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.000	A	A	43654034	C	A	43654034	3	1	60	1	0	0	0	0	1	0	0	0	18284	652	23	2	766	2	ZSCAN29	15	43654034	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	1506944	43654034	58877358	67	17260											
AP3B2	8120	genome.wustl.edu	37	chr15	83333651	83333653	+	In_Frame_Del	DEL	CTC	CTC	-																															gagtagaagggtttttccttCtcctttctcttctcccgatt																										TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr15:83333651_83333653delCTC	ENST00000261722.3	-	17	2221_2223	c.2014_2016delGAG	c.(2014-2016)gagdel	p.E672del	AP3B2_ENST00000535359.1_In_Frame_Del_p.E691del|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_In_Frame_Del_p.E640del	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	672	Glu/Ser-rich.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GTTTTTCCTTCTCCTTTCTCTTC	0.571																																																	0																																										SO:0001651	inframe_deletion	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2014_2016delGAG	15.37:g.83333651_83333653delCTC	ENSP00000261722:p.Glu672del		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	In_Frame_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.E672in_frame_del	ENST00000261722.3	37	c.2016_2014	CCDS45331.1	15																																																																																			AP3B2	-	pirsf_AP3_beta	ENSG00000103723		0.571	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0	64	0	CTC			83333653	-1	tier1		no_errors	ENST00000261722	ensembl	human	known	74_37	in_frame_del	31.82	45	21	DEL	1.000:1.000:1.000	-	-	83333653	CTC	-	83333651	7	5	60	1	0	1	0	1	0	0	0	0	745	912	32	0	1272	0	AP3B2	15	83333651	In_Frame_Del	DEL	CTC	TCGA-L5-A4OM-01A-11D-A27G-09	39679617	83333651	19197741	68	17261											
SULT1A1	6817	genome.wustl.edu	37	chr16	28617218	28617218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgaagcgctcattctgcGccacggtgaaggtggtcttc	7	10	12	12	4	3	1	1	1	2	0	5	2	3	1	1	3	2	1	1	3	2	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr16:28617218G>A	ENST00000395607.1	-	8	1085	c.812C>T	c.(811-813)gCg>gTg	p.A271V	SULT1A1_ENST00000395609.1_Missense_Mutation_p.A271V|SULT1A1_ENST00000350842.4_Missense_Mutation_p.A193V|SULT1A1_ENST00000314752.7_Missense_Mutation_p.A271V|SULT1A1_ENST00000569554.1_Missense_Mutation_p.A271V	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	271					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	CTCATTCTGCGCCACGGTGAA	0.627																																																	0													26	21	23					16																	28617218		2196	4275	6471	SO:0001583	missense	0			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"Sulfotransferases, cytosolic"	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.812C>T	16.37:g.28617218G>A	ENSP00000378971:p.Ala271Val		Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A271V	ENST00000395607.1	37	c.812	CCDS32420.1	16	.	.	.	.	.	.	.	.	.	.	g	28.3	4.911910	0.92178	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	2.0	2.0	0.26442	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000007	T	0.09512	0.0234	M	0.87827	2.91	0.40715	D	0.982605	D;D;D	0.76494	0.999;0.999;0.992	P;P;P	0.57009	0.811;0.793;0.556	T	0.04708	-1.0932	10	0.72032	D	0.01	.	10.0843	0.42408	0.0:0.0:1.0:0.0	.	223;193;271	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	V	271;193;271;271	ENSP00000321988:A271V;ENSP00000329399:A193V;ENSP00000378972:A271V;ENSP00000378971:A271V	ENSP00000321988:A271V	A	-	2	0	SULT1A1	28524719	1.000000	0.71417	0.999000	0.59377	0.566000	0.35808	5.692000	0.68256	1.439000	0.47511	0.298000	0.19748	GCG	SULT1A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000196502		0.627	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	HGNC	protein_coding	OTTHUMT00000254694.2	-	0	35	0	G	NM_001055		28617218	-1	tier1	-	no_errors	ENST00000314752	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	A	A	28617218	G	A	28617218	3	1	60	1	0	0	0	0	1	0	0	0	15419	1087	38	1	79	1	SULT1A1	16	28617218	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09		28617218	61737535	69	17262											
KCTD19	146212	genome.wustl.edu	37	chr16	67354649	67354649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagcctctggctttctgaaGaggtcaaggctgaagcctct	9	11	11	10	0	4	3	1	2	3	1	4	3	4	3	2	3	2	2	2	3	4	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr16:67354649G>A	ENST00000304372.5	-	2	198	c.143C>T	c.(142-144)tCt>tTt	p.S48F	KCTD19_ENST00000562860.1_5'UTR|RN7SKP118_ENST00000364331.1_RNA	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	48	BTB 1.				protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCTTTCTGAAGAGGTCAAGGC	0.483																																																	0													93	90	90					16																	67354649		1917	4137	6054	SO:0001583	missense	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 19"				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.143C>T	16.37:g.67354649G>A	ENSP00000305702:p.Ser48Phe		B4DZ49|Q8N804	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.S48F	ENST00000304372.5	37	c.143	CCDS42179.1	16	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548065	0.45383	.	.	ENSG00000168676	ENST00000304372	T	0.77489	-1.1	6.08	5.13	0.70059	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.632683	0.15114	N	0.279816	T	0.61825	0.2378	N	0.17723	0.515	0.22424	N	0.999113	B	0.27316	0.175	B	0.33392	0.163	T	0.50021	-0.8876	10	0.09590	T	0.72	-3.1478	7.9391	0.29948	0.0823:0.1621:0.7556:0.0	.	48	Q17RG1	KCD19_HUMAN	F	48	ENSP00000305702:S48F	ENSP00000305702:S48F	S	-	2	0	KCTD19	65912150	0.234000	0.23783	0.831000	0.32960	0.948000	0.59901	1.053000	0.30442	2.894000	0.99253	0.591000	0.81541	TCT	KCTD19	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	ENSG00000168676		0.483	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	-	0	51	0	G	XM_085367		67354649	-1	tier1	-	no_errors	ENST00000304372	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.406	A	A	67354649	G	A	67354649	3	1	60	1	0	0	0	0	1	0	0	0	8133	942	33	3	2697	3	KCTD19	16	67354649	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	38737431	67354649	23000104	70	17263											
FUK	197258	genome.wustl.edu	37	chr16	70506917	70506917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgggaccctgagacgctgCccgcagagtactgccttccc	6	8	12	15	2	0	2	0	1	0	2	1	4	1	3	4	1	3	3	4	1	1	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr16:70506917C>T	ENST00000288078.6	+	15	1670	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	FUK_ENST00000378912.2_Missense_Mutation_p.P512S|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	480						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGAGACGCTGCCCGCAGAGTA	0.642																																																	0													12	17	15					16																	70506917		2005	4173	6178	SO:0001583	missense	0				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"L-fucose kinase"	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1438C>T	16.37:g.70506917C>T	ENSP00000288078:p.Pro480Ser		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.P512S	ENST00000288078.6	37	c.1534	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	C	6.968	0.548601	0.13312	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.29655	1.56;1.56	5.84	2.49	0.30216	L-fucokinase (1);	0.988139	0.08262	N	0.972845	T	0.25494	0.0620	L	0.33485	1.01	0.09310	N	1	P;B	0.34724	0.465;0.379	B;B	0.35182	0.124;0.197	T	0.19516	-1.0303	10	0.20519	T	0.43	-2.1353	12.4895	0.55891	0.0:0.414:0.5192:0.0668	.	512;480	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	S	480;512	ENSP00000288078:P480S;ENSP00000368192:P512S	ENSP00000288078:P480S	P	+	1	0	FUK	69064418	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.910000	0.28571	0.714000	0.32081	0.655000	0.94253	CCC	FUK	-	pfam_Fucokinase	ENSG00000157353		0.642	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	-	0	79	0	C	NM_145059		70506917	1	tier1	-	no_errors	ENST00000378912	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	T	T	70506917	C	T	70506917	3	4	60	1	0	0	0	0	1	0	0	0	6120	739	26	3	1492	3	FUK	16	70506917	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	3152268	70506917	19847836	71	17264											
TP53	7157	genome.wustl.edu	37	chr17	7578370	7578370	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccagccccagctgctcaCcatcgctatctgagcagcgc	7	8	8	18	2	3	1	1	1	2	0	5	1	3	1	4	0	5	4	4	0	1	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCTGCTCACCATCGCTATC	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)											48	46	47					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>A	17.37:g.7578370C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e4+1	ENST00000269305.4	37	c.559+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	365	0	C	NM_000546	Intron	7578370	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	80.13	88	359	SNP	1.000	T	T	7578370	C	T	7578370	5	4	60	1	0	0	0	0	0	0	1	0	16429	521	18	3	738	3	TP53	17	7578370	Splice_Site	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09		7578370	73616840	72	17265											
ANKRD40	91369	genome.wustl.edu	37	chr17	48774476	48774476	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaattctcaccttgagtAccagctctagaaaaaaaagg	15	10	7	9	0	3	3	1	2	3	1	4	3	3	3	2	1	2	2	2	1	7	4			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr17:48774476A>C	ENST00000285243.6	-	4	1054	c.785T>G	c.(784-786)gTa>gGa	p.V262G	RP11-294J22.6_ENST00000574246.1_RNA|Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	262										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			CACCTTGAGTACCAGCTCTAG	0.398																																																	0													69	64	66					17																	48774476		2203	4300	6503	SO:0001583	missense	0			BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"Ankyrin repeat domain containing"	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.785T>G	17.37:g.48774476A>C	ENSP00000285243:p.Val262Gly		Q96E32	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V262G	ENST00000285243.6	37	c.785	CCDS11572.1	17	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592862	0.86953	.	.	ENSG00000154945	ENST00000285243	T	0.41400	1.0	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.68458	-0.5403	10	0.87932	D	0	-21.1923	15.9416	0.79758	1.0:0.0:0.0:0.0	.	262	Q6AI12	ANR40_HUMAN	G	262	ENSP00000285243:V262G	ENSP00000285243:V262G	V	-	2	0	ANKRD40	46129475	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.905000	0.92613	2.225000	0.72522	0.533000	0.62120	GTA	ANKRD40	-	NULL	ENSG00000154945		0.398	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD40	HGNC	protein_coding	OTTHUMT00000368201.2	-	0	43	0	A	NM_052855		48774476	-1	tier1	-	no_errors	ENST00000285243	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	C	C	48774476	A	C	48774476	3	2	60	1	0	0	0	0	1	0	0	0	669	391	14	4	329	4	ANKRD40	17	48774476	Missense_Mutation	SNP	A	TCGA-L5-A4OM-01A-11D-A27G-09	41196106	48774476	32420734	73	17266											
FASN	2194	genome.wustl.edu	37	chr17	80037129	80037129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggtcaccctcgatgaCgtggacggatactttcccgt	6	10	13	12	5	1	1	1	1	0	0	3	4	2	3	2	4	1	0	2	4	1	2	rs1140623		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr17:80037129C>T	ENST00000306749.2	-	43	7644	c.7426G>A	c.(7426-7428)Gtc>Atc	p.V2476I	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2476	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCCTCGATGACGTGGACGGAT	0.662																																					Colon(59;314 1043 11189 28578 32273)												0													111	93	99					17																	80037129		2203	4300	6503	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7426G>A	17.37:g.80037129C>T	ENSP00000304592:p.Val2476Ile		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.V2476I	ENST00000306749.2	37	c.7426	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	1.209	-0.630371	0.03610	.	.	ENSG00000169710	ENST00000306749	T	0.26660	1.72	4.46	-1.45	0.08828	Thioesterase (1);	0.263238	0.30401	N	0.009710	T	0.15262	0.0368	L	0.33137	0.985	0.35663	D	0.812721	B	0.12013	0.005	B	0.08055	0.003	T	0.32161	-0.9917	10	0.14252	T	0.57	-32.7984	11.4927	0.50389	0.0:0.3617:0.0:0.6383	rs1140623	2476	P49327	FAS_HUMAN	I	2476	ENSP00000304592:V2476I	ENSP00000304592:V2476I	V	-	1	0	FASN	77630418	0.264000	0.24093	0.539000	0.28077	0.005000	0.04900	0.177000	0.16801	-0.432000	0.07297	-0.254000	0.11334	GTC	FASN	-	pfam_Thioesterase	ENSG00000169710		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	58	0	C	NM_004104		80037129	-1	tier1	rs1140623	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.733	T	T	80037129	C	T	80037129	3	4	60	1	0	0	0	0	1	0	0	0	5705	536	19	1	113	1	FASN	17	80037129	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	31262653	80037129	1158081	74	17267											
MIB1	57534	genome.wustl.edu	37	chr18	19429195	19429195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtccttctatgattagtaAtgattctgaaaccttagaag	13	14	8	6	0	2	4	0	3	2	1	3	5	3	4	2	0	1	1	2	0	6	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr18:19429195A>T	ENST00000261537.6	+	17	2696	c.2432A>T	c.(2431-2433)aAt>aTt	p.N811I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	811					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGATTAGTAATGATTCTGAA	0.338																																																	0													197	198	198					18																	19429195		2203	4300	6503	SO:0001583	missense	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"Zinc fingers, ZZ-type", "Ankyrin repeat domain containing"	21086	protein-coding gene	gene with protein product		608677	"mindbomb homolog 1 (Drosophila)"				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2432A>T	18.37:g.19429195A>T	ENSP00000261537:p.Asn811Ile		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.N811I	ENST00000261537.6	37	c.2432	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	A	16.30	3.083135	0.55861	.	.	ENSG00000101752	ENST00000261537	T	0.37915	1.17	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	T	0.37732	0.1014	N	0.08118	0	0.80722	D	1	D	0.57571	0.98	D	0.64321	0.924	T	0.41698	-0.9494	10	0.38643	T	0.18	-24.6781	15.3214	0.74124	1.0:0.0:0.0:0.0	.	811	Q86YT6	MIB1_HUMAN	I	811	ENSP00000261537:N811I	ENSP00000261537:N811I	N	+	2	0	MIB1	17683193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	2.019000	0.59389	0.477000	0.44152	AAT	MIB1	-	NULL	ENSG00000101752		0.338	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	-	0	29	0	A	NM_020774		19429195	1	tier1	-	no_errors	ENST00000261537	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	T	T	19429195	A	T	19429195	3	4	60	1	0	0	0	0	1	0	0	0	9604	101	4	5	2498	5	MIB1	18	19429195	Missense_Mutation	SNP	A	TCGA-L5-A4OM-01A-11D-A27G-09		19429195	58648053	75	17268											
NCAN	1463	genome.wustl.edu	37	chr19	19330103	19330103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcatcgaggatgagcaggaCctggtgcccttggaggtgac	8	7	17	9	1	0	2	0	2	0	0	1	6	0	5	2	6	2	2	2	6	0	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr19:19330103C>A	ENST00000252575.6	+	3	552	c.453C>A	c.(451-453)gaC>gaA	p.D151E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	151	Ig-like V-type.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	ATGAGCAGGACCTGGTGCCCT	0.682																																																	0													23	18	20					19																	19330103		2189	4291	6480	SO:0001583	missense	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans", "Endogenous ligands"	2465	protein-coding gene	gene with protein product	"neurocan proteoglycan"	600826	"chondroitin sulfate proteoglycan 3"	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.453C>A	19.37:g.19330103C>A	ENSP00000252575:p.Asp151Glu		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII	p.D151E	ENST00000252575.6	37	c.453	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754265	0.69648	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	T	0.10573	2.86	4.07	2.93	0.34026	C-type lectin fold (1);Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.169369	0.28290	N	0.015898	T	0.23492	0.0568	M	0.84326	2.69	0.80722	D	1	P	0.51240	0.943	P	0.54431	0.752	T	0.01084	-1.1457	10	0.66056	D	0.02	.	5.6009	0.17353	0.0:0.7229:0.0:0.2771	.	151	O14594	NCAN_HUMAN	E	165;151	ENSP00000252575:D151E	ENSP00000252575:D151E	D	+	3	2	NCAN	19191103	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.844000	0.39269	0.828000	0.34709	0.491000	0.48974	GAC	NCAN	-	superfamily_C-type_lectin_fold,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000130287		0.682	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	-	0	44	0	C	NM_004386		19330103	1	tier1	-	no_errors	ENST00000252575	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	A	A	19330103	C	A	19330103	3	1	60	1	0	0	0	0	1	0	0	0	10243	506	18	3	459	3	NCAN	19	19330103	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09		19330103	39798880	76	17269											
ZNF208	7757	genome.wustl.edu	37	chr19	22155555	22155555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgataactaagggttgaggAccacttataggctttgccac	12	11	10	8	0	0	2	0	2	0	0	0	3	0	3	2	3	2	2	2	3	4	6			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr19:22155555A>G	ENST00000397126.4	-	4	2429	c.2281T>C	c.(2281-2283)Tcc>Ccc	p.S761P	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	761					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGTTGAGGACCACTTATAG	0.358																																																	0													29	31	30					19																	22155555		1939	4148	6087	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2281T>C	19.37:g.22155555A>G	ENSP00000380315:p.Ser761Pro			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S761P	ENST00000397126.4	37	c.2281	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	A	0.984	-0.695999	0.03279	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.37411	1.2	2.28	-4.55	0.03441	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33440	0.0863	.	.	.	0.09310	N	1	D	0.64830	0.994	P	0.52481	0.7	T	0.20075	-1.0286	8	0.34782	T	0.22	.	2.3671	0.04322	0.1618:0.1098:0.4484:0.28	.	661	O43345	ZN208_HUMAN	P	761;661	ENSP00000380315:S761P	ENSP00000380315:S761P	S	-	1	0	ZNF208	21947395	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.128000	0.03247	-3.689000	0.00120	-1.431000	0.01090	TCC	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	34	0	A	NM_007153		22155555	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	41.51	31	22	SNP	0.000	G	G	22155555	A	G	22155555	3	3	60	1	0	0	0	0	1	0	0	0	17814	275	10	4	1565	4	ZNF208	19	22155555	Missense_Mutation	SNP	A	TCGA-L5-A4OM-01A-11D-A27G-09	2825452	22155555	36973428	77	17270											
PPP1R15A	23645	genome.wustl.edu	37	chr19	49377829	49377829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaggaggaggaagatgagGatgtggatagtgaggataag	14	6	20	1	1	0	3	0	2	0	1	0	10	0	10	0	7	0	0	0	7	3	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr19:49377829G>T	ENST00000200453.5	+	2	1608	c.1339G>T	c.(1339-1341)Gat>Tat	p.D447Y		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	447	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAAGATGAGGATGTGGATAG	0.557																																																	0													82	80	81					19																	49377829		2203	4300	6503	SO:0001583	missense	0			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1339G>T	19.37:g.49377829G>T	ENSP00000200453:p.Asp447Tyr		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15A/B_C	p.D447Y	ENST00000200453.5	37	c.1339	CCDS12738.1	19	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970610	0.53614	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.06294	3.32	4.14	-5.81	0.02340	.	1.802230	0.05195	U	0.503741	T	0.05135	0.0137	L	0.40543	1.245	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.44003	-0.9356	10	0.72032	D	0.01	.	3.4697	0.07562	0.3721:0.0:0.2738:0.3541	.	447	O75807	PR15A_HUMAN	Y	447;287;405	ENSP00000200453:D447Y	ENSP00000200453:D447Y	D	+	1	0	PPP1R15A	54069641	0.006000	0.16342	0.000000	0.03702	0.017000	0.09413	0.529000	0.23019	-1.123000	0.02940	0.460000	0.39030	GAT	PPP1R15A	-	NULL	ENSG00000087074		0.557	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	-	0	32	0	G	NM_014330		49377829	1	tier1	-	no_errors	ENST00000200453	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.000	T	T	49377829	G	T	49377829	3	4	60	1	0	0	0	0	1	0	0	0	12405	1174	41	3	1341	3	PPP1R15A	19	49377829	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	27222274	49377829	9751154	78	17271											
SIGLEC6	946	genome.wustl.edu	37	chr19	52034113	52034113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggagaagatggggggCgtcccctgctcacagaccca	10	5	13	13	1	1	3	1	0	0	3	3	4	3	3	4	4	1	1	4	4	1	0			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr19:52034113C>T	ENST00000425629.3	-	3	682	c.528G>A	c.(526-528)acG>acA	p.T176T	SIGLEC6_ENST00000346477.3_Silent_p.T176T|SIGLEC6_ENST00000436458.1_Silent_p.T140T|SIGLEC6_ENST00000391797.3_Silent_p.T165T|SIGLEC6_ENST00000343300.4_Silent_p.T176T|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Silent_p.T176T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	176	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGATGGGGGGCGTCCCCTGCT	0.662																																																	0													71	75	74					19																	52034113		2203	4300	6503	SO:0001819	synonymous_variant	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.528G>A	19.37:g.52034113C>T			A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T176	ENST00000425629.3	37	c.528	CCDS12834.3	19																																																																																			SIGLEC6	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105492		0.662	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	-	0	45	0	C	NM_001245		52034113	-1	tier1	-	no_errors	ENST00000425629	ensembl	human	known	74_37	silent	28.57	29	12	SNP	0.001	T	T	52034113	C	T	52034113	2	4	60	1	0	0	0	0	0	0	0	1	14357	755	27	1		1	SIGLEC6	19	52034113	Silent	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	2656284	52034113	7094870	79	17272											
RRBP1	6238	genome.wustl.edu	37	chr20	17617273	17617273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccggtagctggcctgCatgcgtgcctgcacagccgt	4	9	13	15	3	0	0	0	0	0	0	1	0	1	0	4	2	7	5	4	2	1	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr20:17617273C>T	ENST00000377813.1	-	6	2589	c.2286G>A	c.(2284-2286)atG>atA	p.M762I	RRBP1_ENST00000360807.4_Missense_Mutation_p.M329I|RRBP1_ENST00000246043.4_Missense_Mutation_p.M762I|RRBP1_ENST00000455029.2_Missense_Mutation_p.M103I|RRBP1_ENST00000377807.2_Missense_Mutation_p.M329I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	762					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGCTGGCCTGCATGCGTGCCT	0.642																																																	0													89	80	83					20																	17617273		2203	4300	6503	SO:0001583	missense	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2286G>A	20.37:g.17617273C>T	ENSP00000367044:p.Met762Ile		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.M762I	ENST00000377813.1	37	c.2286		20	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655150	0.67472	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.79	5.79	0.91817	.	0.000000	0.45606	D	0.000353	T	0.36138	0.0956	L	0.48174	1.505	0.80722	D	1	B	0.32507	0.373	B	0.31614	0.133	T	0.07158	-1.0787	10	0.38643	T	0.18	-34.221	19.0289	0.92946	0.0:1.0:0.0:0.0	.	329	Q9P2E9-3	.	I	329;762;329;762;103	ENSP00000354045:M329I;ENSP00000367044:M762I;ENSP00000367038:M329I;ENSP00000246043:M762I;ENSP00000401206:M103I	ENSP00000246043:M762I	M	-	3	0	RRBP1	17565273	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.816000	0.86201	2.746000	0.94184	0.561000	0.74099	ATG	RRBP1	-	NULL	ENSG00000125844		0.642	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1		0	30	0	C	NM_001042576		17617273	-1			no_errors	ENST00000246043	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	17617273	C	T	17617273	3	4	60	1	0	0	0	0	1	0	0	0	13723	710	25	3	2026	3	RRBP1	20	17617273	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09		17617273	45408247	80	17273											
ZNF512B	57473	genome.wustl.edu	37	chr20	62594469	62594469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgtgtgctccgagcgCacgtggtagtcgtggccagc	4	7	18	12	5	0	0	0	0	0	0	2	1	1	0	3	4	3	3	3	4	1	1			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr20:62594469C>T	ENST00000450537.1	-	12	2007	c.1947G>A	c.(1945-1947)gtG>gtA	p.V649V	ZNF512B_ENST00000217130.3_Silent_p.V649V|ZNF512B_ENST00000369888.1_Silent_p.V649V			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTCCGAGCGCACGTGGTAGT	0.652																																																	0													49	30	37					20																	62594469		2191	4288	6479	SO:0001819	synonymous_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1947G>A	20.37:g.62594469C>T			Q08AK9|Q9ULM4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V649	ENST00000450537.1	37	c.1947	CCDS13548.1	20																																																																																			ZNF512B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196700		0.652	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	-	0	32	0	C	NM_020713		62594469	-1	tier1	-	no_errors	ENST00000217130	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.997	T	T	62594469	C	T	62594469	2	4	60	1	0	0	0	0	0	0	0	1	18005	697	25	3		3	ZNF512B	20	62594469	Silent	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09	44977196	62594469	431051	81	17274											
MICAL3	57553	genome.wustl.edu	37	chr22	18383650	18383650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaatttttggttgaataTaaaagccacaccactgatct	16	12	6	7	0	1	2	0	2	1	0	1	3	1	2	2	1	1	1	2	1	6	5			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chr22:18383650T>C	ENST00000441493.2	-	6	1157	c.805A>G	c.(805-807)Ata>Gta	p.I269V	MICAL3_ENST00000414725.2_Missense_Mutation_p.I269V|MICAL3_ENST00000207726.7_Missense_Mutation_p.I269V|MICAL3_ENST00000444520.1_Missense_Mutation_p.I269V|MICAL3_ENST00000383094.3_Missense_Mutation_p.I269V|MICAL3_ENST00000400561.2_Missense_Mutation_p.I269V|MICAL3_ENST00000585038.1_Missense_Mutation_p.I269V|MICAL3_ENST00000429452.1_Missense_Mutation_p.I269V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	269	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGTTGAATATAAAAGCCACA	0.448																																																	0													101	91	94					22																	18383650		1568	3582	5150	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.805A>G	22.37:g.18383650T>C	ENSP00000416015:p.Ile269Val		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.I269V	ENST00000441493.2	37	c.805	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489609	0.64074	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24;3.24;3.24	5.11	5.11	0.69529	.	0.042318	0.85682	D	0.000000	T	0.23572	0.0570	M	0.91561	3.22	0.58432	D	0.999992	B;B;B;B;B	0.28208	0.203;0.074;0.072;0.139;0.142	B;B;B;B;B	0.36378	0.054;0.223;0.155;0.108;0.034	T	0.05920	-1.0856	10	0.87932	D	0	.	14.9199	0.70829	0.0:0.0:0.0:1.0	.	269;269;269;269;269	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	V	269	ENSP00000416015:I269V;ENSP00000414846:I269V;ENSP00000383406:I269V;ENSP00000410315:I269V;ENSP00000391827:I269V;ENSP00000372574:I269V;ENSP00000207726:I269V	ENSP00000207726:I269V	I	-	1	0	XXbac-B461K10.4;MICAL3	16763650	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.036000	0.88901	1.929000	0.55896	0.377000	0.23210	ATA	MICAL3	-	NULL	ENSG00000243156		0.448	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0	65	0	T			18383650	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	24.29	53	17	SNP	1.000	C	C	18383650	T	C	18383650	3	2	60	1	0	0	0	0	1	0	0	0	9609	1406	49	4	6048	4	MICAL3	22	18383650	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09		18383650	32920916	82	17275											
PJA1	64219	genome.wustl.edu	37	chrX	68382750	68382750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtccataggccattcctCttctgctacccgaagctctg	7	13	7	14	1	3	0	0	0	3	0	5	1	5	0	4	1	3	2	4	1	4	5			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chrX:68382750C>A	ENST00000361478.1	-	2	709	c.332G>T	c.(331-333)aGa>aTa	p.R111I	PJA1_ENST00000374571.4_Missense_Mutation_p.R56I|PJA1_ENST00000374583.1_Missense_Mutation_p.R111I|PJA1_ENST00000374584.3_Intron|PJA1_ENST00000477231.1_5'UTR	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	111					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGCCATTCCTCTTCTGCTACC	0.527																																																	0													81	74	76					X																	68382750		2203	4300	6503	SO:0001583	missense	0			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"RING-type (C3HC4) zinc fingers"	16648	protein-coding gene	gene with protein product		300420	"praja 1", "praja ring finger 1"			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.332G>T	X.37:g.68382750C>A	ENSP00000355014:p.Arg111Ile		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R111I	ENST00000361478.1	37	c.332	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101062	0.56183	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.14893	2.47;2.47;2.47	3.25	3.25	0.37280	.	0.431534	0.17930	U	0.157212	T	0.27419	0.0673	L	0.44542	1.39	0.38531	D	0.948974	D	0.65815	0.995	D	0.69142	0.962	T	0.07986	-1.0744	10	0.87932	D	0	-7.0678	5.7559	0.18172	0.0:0.8523:0.0:0.1477	.	111	Q8NG27	PJA1_HUMAN	I	56;111;111;56	ENSP00000363711:R111I;ENSP00000355014:R111I;ENSP00000363699:R56I	ENSP00000355014:R111I	R	-	2	0	PJA1	68299475	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	2.170000	0.42443	1.925000	0.55765	0.534000	0.68092	AGA	PJA1	-	NULL	ENSG00000181191		0.527	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	-	0	56	0	C	NM_145119		68382750	-1	tier1	-	no_errors	ENST00000361478	ensembl	human	known	74_37	missense	36.84	36	21	SNP	1.000	A	A	68382750	C	A	68382750	3	1	60	1	0	0	0	0	1	0	0	0	12000	913	32	3	1603	3	PJA1	23	68382750	Missense_Mutation	SNP	C	TCGA-L5-A4OM-01A-11D-A27G-09		68382750	86887810	83	17276											
ACRC	93953	genome.wustl.edu	37	chrX	70824010	70824010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgatgattcggaagctTccgacgacagcagtgatgat	11	9	13	8	3	0	4	0	4	0	0	2	7	1	5	1	1	2	3	1	1	1	2			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chrX:70824010T>C	ENST00000373695.1	+	7	1420	c.883T>C	c.(883-885)Tcc>Ccc	p.S295P	ACRC_ENST00000373696.3_Missense_Mutation_p.S295P			Q96QF7	ACRC_HUMAN	acidic repeat containing	295	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTCGGAAGCTTCCGACGACAG	0.527																																																	0													132	124	127					X																	70824010		2203	4300	6503	SO:0001583	missense	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.883T>C	X.37:g.70824010T>C	ENSP00000362799:p.Ser295Pro		B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.S295P	ENST00000373695.1	37	c.883	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	T	2.597	-0.293877	0.05568	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.29397	1.57;1.57	0.14	-0.28	0.12886	.	.	.	.	.	T	0.09642	0.0237	N	0.01874	-0.695	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.30268	-0.9984	9	0.20519	T	0.43	.	4.4172	0.11463	0.0:0.6635:0.0:0.3365	.	295	Q96QF7	ACRC_HUMAN	P	295	ENSP00000362800:S295P;ENSP00000362799:S295P	ENSP00000362799:S295P	S	+	1	0	ACRC	70740735	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-1.504000	0.02275	-1.219000	0.02597	-1.215000	0.01618	TCC	ACRC	-	NULL	ENSG00000147174		0.527	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1		0	64	0	T			70824010	1			no_errors	ENST00000373695	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.009	C	C	70824010	T	C	70824010	3	2	60	1	0	0	0	0	1	0	0	0	171	1783	62	4	909	4	ACRC	23	70824010	Missense_Mutation	SNP	T	TCGA-L5-A4OM-01A-11D-A27G-09	2441260	70824010	84446550	84	17277											
KIAA1210	57481	genome.wustl.edu	37	chrX	118219376	118219376	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccttagtctcagcatcGgctccagcattgctcttagt	6	13	9	13	1	2	0	1	0	2	0	6	0	4	0	2	2	3	5	2	2	2	3	rs371643117		TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chrX:118219376G>T	ENST00000402510.2	-	12	4817	c.4818C>A	c.(4816-4818)gcC>gcA	p.A1606A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1606										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCTCAGCATCGGCTCCAGCAT	0.453																																																	0													170	153	158					X																	118219376		1889	4110	5999	SO:0001819	synonymous_variant	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4818C>A	X.37:g.118219376G>T			B7ZCI8|Q5JPN4	Silent	SNP	NULL	p.A1606	ENST00000402510.2	37	c.4818	CCDS48156.1	X																																																																																			KIAA1210	-	NULL	ENSG00000250423		0.453	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	146	0	G	NM_020721		118219376	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	silent	36.30	86	49	SNP	0.000	T	T	118219376	G	T	118219376	2	4	60	1	0	0	0	0	0	0	0	1	8241	1103	39	2		2	KIAA1210	23	118219376	Silent	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	47395366	118219376	37051184	85	17278											
GLUD2	2747	genome.wustl.edu	37	chrX	120181834	120181834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcgaggagcagaagcGgaaccgggtgcgcggcatcc	11	2	18	10	5	0	1	0	0	0	1	1	5	1	4	2	5	5	2	2	5	3	0			TCGA-L5-A4OM-01A-11D-A27G-09	TCGA-L5-A4OM-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	cc69240d-8283-48c1-9eb2-5621f7ab1e28	6ea0b146-106f-426a-a3a0-d043d733a81f	g.chrX:120181834G>A	ENST00000328078.1	+	1	373	c.296G>A	c.(295-297)cGg>cAg	p.R99Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	99					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GAGCAGAAGCGGAACCGGGTG	0.617																																																	0													99	74	82					X																	120181834		2203	4300	6503	SO:0001583	missense	0			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.296G>A	X.37:g.120181834G>A	ENSP00000327589:p.Arg99Gln		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.R99Q	ENST00000328078.1	37	c.296	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259268	0.23051	.	.	ENSG00000182890	ENST00000328078	D	0.96459	-4.02	1.62	-0.286	0.12862	.	0.060332	0.64402	N	0.000008	D	0.87350	0.6155	N	0.17082	0.46	0.40532	D	0.980941	B	0.28208	0.203	B	0.06405	0.002	T	0.75513	-0.3291	10	0.17832	T	0.49	.	5.5464	0.17065	0.3553:0.0:0.6447:0.0	.	99	P49448	DHE4_HUMAN	Q	99	ENSP00000327589:R99Q	ENSP00000327589:R99Q	R	+	2	0	GLUD2	120009515	1.000000	0.71417	0.002000	0.10522	0.037000	0.13140	6.185000	0.72013	-0.161000	0.10983	-0.412000	0.06146	CGG	GLUD2	-	NULL	ENSG00000182890		0.617	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	-	0	52	0	G	NM_012084		120181834	1	tier1	-	no_errors	ENST00000328078	ensembl	human	known	74_37	missense	20.00	52	13	SNP	0.988	A	A	120181834	G	A	120181834	3	1	60	1	0	0	0	0	1	0	0	0	6503	1116	39	1	298	1	GLUD2	23	120181834	Missense_Mutation	SNP	G	TCGA-L5-A4OM-01A-11D-A27G-09	1962458	120181834	35088726	86	17279											
PLCH2	9651	genome.wustl.edu	37	chr1	2433603	2433603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccgaggcccaaagcccgGctcgctggacagtcatgctg	7	6	12	16	3	1	0	1	0	0	0	3	2	2	1	4	3	2	3	4	3	1	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:2433603G>A	ENST00000419816.2	+	21	2988	c.2714G>A	c.(2713-2715)gGc>gAc	p.G905D	PLCH2_ENST00000378486.3_Missense_Mutation_p.G905D|PLCH2_ENST00000288766.5_Missense_Mutation_p.G193D|PLCH2_ENST00000449969.1_Missense_Mutation_p.G878D|PLCH2_ENST00000378488.3_Missense_Mutation_p.G869D			O75038	PLCH2_HUMAN	phospholipase C, eta 2	905					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCAAAGCCCGGCTCGCTGGAC	0.687																																																	0													9	10	10					1																	2433603		1352	2806	4158	SO:0001583	missense	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2714G>A	1.37:g.2433603G>A	ENSP00000389803:p.Gly905Asp		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G905D	ENST00000419816.2	37	c.2714		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.36|14.36	2.513316|2.513316	0.44660|0.44660	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000419816|ENST00000449969;ENST00000378486;ENST00000378488;ENST00000288766;ENST00000378483;ENST00000343889;ENST00000278878	.|T;T;T;T	.|0.24723	.|2.0;1.98;1.84;1.84	3.45|3.45	2.47|2.47	0.30058|0.30058	.|.	.|1.580920	.|0.05604	.|N	.|0.576960	T|T	0.30039|0.30039	0.0752|0.0752	L|L	0.47716|0.47716	1.5|1.5	0.37400|0.37400	D|D	0.912803|0.912803	.|P;P;P;P	.|0.44627	.|0.839;0.616;0.804;0.514	.|B;B;P;B	.|0.45681	.|0.298;0.199;0.49;0.165	T|T	0.34329|0.34329	-0.9833|-0.9833	5|10	.|0.35671	.|T	.|0.21	.|.	9.5117|9.5117	0.39080|0.39080	0.0:0.462:0.538:0.0|0.0:0.462:0.538:0.0	.|.	.|752;657;878;905	.|B9DI81;B9DI82;O75038-2;O75038	.|.;.;.;PLCH2_HUMAN	T|D	200|878;905;869;193;191;752;657	.|ENSP00000397289:G878D;ENSP00000367747:G905D;ENSP00000367749:G869D;ENSP00000288766:G193D	.|ENSP00000278878:G657D	A|G	+|+	1|2	0|0	PLCH2|PLCH2	2423463|2423463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	5.957000|5.957000	0.70323|0.70323	1.759000|1.759000	0.51996|0.51996	0.491000|0.491000	0.48974|0.48974	GCT|GGC	PLCH2	-	NULL	ENSG00000149527		0.687	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1		0	28	0	G	NM_014638		2433603	1			no_errors	ENST00000378486	ensembl	human	known	74_37	missense	15.79	15	3	SNP	1.000	A	A	2433603	G	A	2433603	3	1	61	1	0	0	0	0	1	0	0	0	12077	1203	42	3	2796	3	PLCH2	1	2433603	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		2433603	246817018	1	17280											
PADI6	353238	genome.wustl.edu	37	chr1	17707635	17707635	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaacttgaggacaagaaaAccaagaaagtgatcttttca	18	8	8	7	0	2	4	1	2	1	2	2	5	2	5	1	1	3	1	1	1	6	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:17707635A>C	ENST00000434762.2	+	0	579							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGACAAGAAAACCAAGAAAGT	0.502																																																	0													76	81	79					1																	17707635		1956	4153	6109			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17707635A>C			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.502	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	-	0	54	0	A	NM_207421		17707635	1	tier1	-	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	14.58	41	7	SNP	0.000	C	C	17707635	A	C	17707635	1	2	61	0	1	0	0	0	0	0	0	0	11420	43	2	4		4	PADI6	1	17707635	RNA	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	15274032	17707635	231542986	2	17281											
NOTCH2	4853	genome.wustl.edu	37	chr1	120464920	120464920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgattgcttgcatctcggcGaagagtgaaaccttcaggca	10	10	12	9	2	2	3	1	2	1	1	3	4	2	3	1	2	3	3	1	2	2	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:120464920G>A	ENST00000256646.2	-	28	5371	c.5152C>T	c.(5152-5154)Cgc>Tgc	p.R1718C	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1718					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATCTCGGCGAAGAGTGAAA	0.483			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													86	84	85					1																	120464920		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5152C>T	1.37:g.120464920G>A	ENSP00000256646:p.Arg1718Cys		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R1718C	ENST00000256646.2	37	c.5152	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700762	0.88924	.	.	ENSG00000134250	ENST00000256646	D	0.82433	-1.61	5.65	5.65	0.86999	.	0.000000	0.38005	U	0.001850	T	0.81029	0.4738	M	0.72118	2.19	0.47094	D	0.999318	D	0.63880	0.993	B	0.44315	0.446	T	0.82041	-0.0654	10	0.45353	T	0.12	.	19.0765	0.93165	0.0:0.0:1.0:0.0	.	1718	Q04721	NOTC2_HUMAN	C	1718	ENSP00000256646:R1718C	ENSP00000256646:R1718C	R	-	1	0	NOTCH2	120266443	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.496000	0.60360	2.825000	0.97269	0.655000	0.94253	CGC	NOTCH2	-	pirsf_Notch	ENSG00000134250		0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0	36	0	G	NM_024408		120464920	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.999	A	A	120464920	G	A	120464920	3	1	61	1	0	0	0	0	1	0	0	0	10587	1058	37	1	2291	1	NOTCH2	1	120464920	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	102757285	120464920	128785701	3	17282											
HRNR	388697	genome.wustl.edu	37	chr1	152191005	152191005	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgggccacggcttgaagAccaccctgagccagacctat	11	7	10	13	1	0	4	0	2	0	2	0	4	0	4	5	2	1	1	5	2	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:152191005A>T	ENST00000368801.2	-	3	3175	c.3100T>A	c.(3100-3102)Tct>Act	p.S1034T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1034					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCTTGAAGACCACCCTGAG	0.597																																																	0													170	192	185					1																	152191005		2203	4300	6503	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.3100T>A	1.37:g.152191005A>T	ENSP00000357791:p.Ser1034Thr		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S1034T	ENST00000368801.2	37	c.3100	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	A	7.084	0.570735	0.13560	.	.	ENSG00000197915	ENST00000368801	T	0.01725	4.67	3.13	1.98	0.26296	.	.	.	.	.	T	0.00440	0.0014	N	0.12471	0.22	0.09310	N	1	P	0.51791	0.948	P	0.45610	0.487	T	0.38112	-0.9676	9	0.13470	T	0.59	.	5.0067	0.14291	0.8515:0.0:0.1485:0.0	.	1034	Q86YZ3	HORN_HUMAN	T	1034	ENSP00000357791:S1034T	ENSP00000357791:S1034T	S	-	1	0	HRNR	150457629	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.593000	0.23999	0.412000	0.25729	0.378000	0.23410	TCT	HRNR	-	NULL	ENSG00000197915		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	91	0	A	XM_373868		152191005	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	36.91	94	55	SNP	0.001	T	T	152191005	A	T	152191005	3	4	61	1	0	0	0	0	1	0	0	0	7386	275	10	5	5456	5	HRNR	1	152191005	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	31726085	152191005	97059616	4	17283											
CHRNB2	1141	genome.wustl.edu	37	chr1	154543681	154543681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtgctgacggcatgtacGaggtgtccttctattccaat	8	12	11	10	2	1	1	0	1	1	0	3	2	3	1	2	2	2	4	2	2	3	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:154543681G>A	ENST00000368476.3	+	5	646	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	128					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CGGCATGTACGAGGTGTCCTT	0.552																																																	0													143	131	135					1																	154543681		2203	4300	6503	SO:0001583	missense	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.382G>A	1.37:g.154543681G>A	ENSP00000357461:p.Glu128Lys		Q9UEH9	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E128K	ENST00000368476.3	37	c.382	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260916	0.80246	.	.	ENSG00000160716	ENST00000368476	T	0.77877	-1.13	4.27	4.27	0.50696	Neurotransmitter-gated ion-channel ligand-binding (3);	0.119854	0.53938	D	0.000043	D	0.84853	0.5564	M	0.71036	2.16	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.87022	0.2129	10	0.72032	D	0.01	.	16.4609	0.84044	0.0:0.0:1.0:0.0	.	128	P17787	ACHB2_HUMAN	K	128	ENSP00000357461:E128K	ENSP00000357461:E128K	E	+	1	0	CHRNB2	152810305	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.644000	0.83416	2.171000	0.68590	0.563000	0.77884	GAG	CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.552	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0	58	0	G	NM_000748		154543681	1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	missense	12.09	80	11	SNP	1.000	A	A	154543681	G	A	154543681	3	1	61	1	0	0	0	0	1	0	0	0	3398	1059	37	1	400	1	CHRNB2	1	154543681	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2352676	154543681	94706940	5	17284											
HDGF	3068	genome.wustl.edu	37	chr1	156722139	156722139	+	5'Flank	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagttgaggcacaaattggCcaccttccgggtgcattcga	9	9	13	10	2	0	1	0	1	0	0	2	3	1	2	3	4	1	3	3	4	1	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:156722139C>A	ENST00000357325.5	-	0	0				HDGF_ENST00000537739.1_5'Flank|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000368206.5_Missense_Mutation_p.G6V|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368209.5_5'Flank|HDGF_ENST00000416666.2_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CACAAATTGGCCACCTTCCGG	0.532																																																	0													126	136	133					1																	156722139		692	1591	2283	SO:0001631	upstream_gene_variant	0			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295		1.37:g.156722139C>A	Exception_encountered		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	pfam_PWWP_dom	p.G6V	ENST00000357325.5	37	c.17	CCDS1156.1	1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833839	0.32421	.	.	ENSG00000143321	ENST00000368206	T	0.40225	1.04	2.65	0.74	0.18330	.	0.768885	0.11083	U	0.601609	T	0.13114	0.0318	N	0.08118	0	0.21290	N	0.999733	P	0.48350	0.909	P	0.49799	0.622	T	0.05550	-1.0878	10	0.87932	D	0	.	4.5486	0.12098	0.0:0.678:0.0:0.322	.	6	Q5SZ07	.	V	6	ENSP00000357189:G6V	ENSP00000357189:G6V	G	-	2	0	HDGF	154988763	0.002000	0.14202	0.047000	0.18901	0.288000	0.27193	-0.148000	0.10219	0.203000	0.20529	0.313000	0.20887	GGC	HDGF	-	NULL	ENSG00000143321		0.532	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	-	0	36	0	C	NM_004494		156722139	-1	tier1	-	no_errors	ENST00000368206	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.053	A	A	156722139	C	A	156722139	1	1	61	0	1	0	0	0	0	0	0	0	7045	739	26	3		3	HDGF	1	156722139	5'Flank	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	2178458	156722139	92528482	6	17285											
FCRL2	79368	genome.wustl.edu	37	chr1	157737295	157737295	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggacagggcgagacacTggaactgacagacacagagg	14	3	16	8	1	0	5	0	2	0	3	0	8	0	7	0	4	1	0	0	4	1	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:157737295T>C	ENST00000361516.3	-	6	936	c.888A>G	c.(886-888)ccA>ccG	p.P296P	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Silent_p.P296P|FCRL2_ENST00000469986.1_Silent_p.P43P	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	296					cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCGAGACACTGGAACTGACA	0.587																																																	0													59	63	61					1																	157737295		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.888A>G	1.37:g.157737295T>C			A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P296	ENST00000361516.3	37	c.888	CCDS1168.1	1																																																																																			FCRL2	-	NULL	ENSG00000132704		0.587	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0	31	0	T	NM_030764		157737295	-1	tier1	-	no_errors	ENST00000361516	ensembl	human	known	74_37	silent	42.11	33	24	SNP	0.879	C	C	157737295	T	C	157737295	2	2	61	1	0	0	0	0	0	0	0	1	5817	1567	55	4		4	FCRL2	1	157737295	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	1015156	157737295	91513326	7	17286											
FCRL1	115350	genome.wustl.edu	37	chr1	157771711	157771711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctgagctatacctgtgaAgttgagtgtcaccgcctcac	9	10	10	12	1	2	3	2	3	0	0	2	3	2	3	4	0	3	2	4	0	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:157771711A>G	ENST00000368176.3	-	5	947	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.F294L|FCRL1_ENST00000358292.3_Missense_Mutation_p.F294L	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	294						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATACCTGTGAAGTTGAGTGTC	0.552																																					GBM(54;482 1003 11223 30131 35730)												0													80	86	84					1																	157771711		2203	4300	6503	SO:0001583	missense	0			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.880T>C	1.37:g.157771711A>G	ENSP00000357158:p.Phe294Leu		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F294L	ENST00000368176.3	37	c.880	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823380	0.32237	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.38240	1.15;1.32;1.32	5.14	-10.3	0.00346	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.060490	0.07342	N	0.880866	T	0.04907	0.0132	N	0.12182	0.205	0.09310	N	0.999996	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.09377	0.004;0.004;0.0	T	0.26883	-1.0090	10	0.28530	T	0.3	.	8.702	0.34332	0.2992:0.5272:0.0:0.1737	.	294;294;294	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	L	294	ENSP00000351039:F294L;ENSP00000357158:F294L;ENSP00000418130:F294L	ENSP00000351039:F294L	F	-	1	0	FCRL1	156038335	0.000000	0.05858	0.024000	0.17045	0.761000	0.43186	-2.010000	0.01454	-2.149000	0.00797	0.533000	0.62120	TTC	FCRL1	-	smart_Ig_sub	ENSG00000163534		0.552	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	-	0	28	0	A	NM_052938		157771711	-1	tier1	-	no_errors	ENST00000368176	ensembl	human	known	74_37	missense	31.25	33	15	SNP	0.016	G	G	157771711	A	G	157771711	3	3	61	1	0	0	0	0	1	0	0	0	5816	72	3	4	503	4	FCRL1	1	157771711	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	34416	157771711	91478910	8	17287											
SPTA1	6708	genome.wustl.edu	37	chr1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcttggccagttttcTgtatgttttccagctgggtc	4	18	9	10	0	3	0	1	0	2	0	6	0	4	0	2	2	1	4	2	2	1	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:158637764T>C	ENST00000368147.4	-	15	2102	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	641					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGTTTTCTGTATGTTTTC	0.468																																																	1	Substitution - Missense(1)	prostate(1)											172	166	168					1																	158637764		1863	4099	5962	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1922A>G	1.37:g.158637764T>C	ENSP00000357129:p.Gln641Arg		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.Q641R	ENST00000368147.4	37	c.1922	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519401	0.27211	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50813	0.73;0.73	4.95	4.95	0.65309	.	1.390910	0.05520	N	0.561957	T	0.25901	0.0631	L	0.46157	1.445	0.29970	N	0.818626	B	0.06786	0.001	B	0.11329	0.006	T	0.17531	-1.0366	10	0.19147	T	0.46	.	13.6072	0.62054	0.0:0.0:0.0:1.0	.	641	P02549	SPTA1_HUMAN	R	641	ENSP00000357130:Q641R;ENSP00000357129:Q641R	ENSP00000357129:Q641R	Q	-	2	0	SPTA1	156904388	1.000000	0.71417	0.312000	0.25196	0.300000	0.27592	6.793000	0.75130	2.080000	0.62538	0.528000	0.53228	CAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	126	0	T	NM_003126		158637764	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	50.59	84	86	SNP	0.992	C	C	158637764	T	C	158637764	3	2	61	1	0	0	0	0	1	0	0	0	15163	1580	55	4	5489	4	SPTA1	1	158637764	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	866053	158637764	90612857	9	17288											
SPTA1	6708	genome.wustl.edu	37	chr1	158654936	158654936	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatagctcttatcggttaAgatattgactttctccatga	10	17	6	8	1	3	3	1	2	2	1	5	3	3	3	1	1	1	2	1	1	4	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:158654936A>C	ENST00000368147.4	-	2	406	c.226T>G	c.(226-228)Tta>Gta	p.L76V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	76					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTATCGGTTAAGATATTGACT	0.438																																																	0													118	113	115					1																	158654936		1921	4140	6061	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.226T>G	1.37:g.158654936A>C	ENSP00000357129:p.Leu76Val		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L76V	ENST00000368147.4	37	c.226	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	6.664	0.491042	0.12702	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.59638	0.25;0.25	5.18	0.936	0.19488	.	0.929378	0.08717	N	0.904125	T	0.11452	0.0279	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.34601	-0.9822	10	0.07325	T	0.83	.	8.3407	0.32241	0.4046:0.5225:0.0:0.0729	.	76	P02549	SPTA1_HUMAN	V	76	ENSP00000357130:L76V;ENSP00000357129:L76V	ENSP00000357129:L76V	L	-	1	2	SPTA1	156921560	0.977000	0.34250	0.000000	0.03702	0.001000	0.01503	2.194000	0.42668	0.015000	0.14971	-0.644000	0.03951	TTA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	82	0	A	NM_003126		158654936	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	45.69	63	53	SNP	0.008	C	C	158654936	A	C	158654936	3	2	61	1	0	0	0	0	1	0	0	0	15163	69	3	4	7237	4	SPTA1	1	158654936	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	17172	158654936	90595685	10	17289											
IFI16	3428	genome.wustl.edu	37	chr1	159021683	159021683	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggagaagttcaccccaaAgaagatcattgccatagcaa	18	6	8	9	0	2	3	2	0	0	3	2	4	2	3	3	1	2	2	3	1	6	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:159021683A>C	ENST00000295809.7	+	10	2135	c.1880A>C	c.(1879-1881)aAg>aCg	p.K627T	IFI16_ENST00000340979.6_Missense_Mutation_p.K515T|IFI16_ENST00000368131.4_Missense_Mutation_p.K571T|IFI16_ENST00000448393.2_Missense_Mutation_p.K515T|IFI16_ENST00000430894.2_Missense_Mutation_p.K575T|IFI16_ENST00000368132.3_Missense_Mutation_p.K571T|IFI16_ENST00000359709.3_Missense_Mutation_p.K571T			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	627	HIN-200 2. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 core domain.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TTCACCCCAAAGAAGATCATT	0.423																																																	0													102	101	101					1																	159021683		2203	4300	6503	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1880A>C	1.37:g.159021683A>C	ENSP00000295809:p.Lys627Thr		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.K627T	ENST00000295809.7	37	c.1880		1	.	.	.	.	.	.	.	.	.	.	A	14.04	2.415329	0.42817	.	.	ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	4.85	0.721	0.18219	.	.	.	.	.	T	0.16428	0.0395	M	0.67700	2.07	0.09310	N	1	P;B;P	0.52577	0.825;0.286;0.954	D;B;D	0.65010	0.91;0.36;0.931	T	0.08086	-1.0739	9	0.72032	D	0.01	.	2.971	0.05923	0.5741:0.0:0.2473:0.1785	.	575;515;571	E7EPR3;Q16666-3;Q16666-2	.;.;.	T	256;627;515;571;571;575	ENSP00000295809:K627T;ENSP00000342741:K515T;ENSP00000357113:K571T;ENSP00000357114:K571T;ENSP00000394935:K575T	ENSP00000295809:K627T	K	+	2	0	IFI16	157288307	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.765000	0.26546	-0.051000	0.13334	-0.405000	0.06341	AAG	IFI16	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163565		0.423	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0	49	0	A	NM_005531		159021683	1	tier1	-	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.000	C	C	159021683	A	C	159021683	3	2	61	1	0	0	0	0	1	0	0	0	7538	72	3	4	1742	4	IFI16	1	159021683	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	366747	159021683	90228938	11	17290											
OLFML2B	25903	genome.wustl.edu	37	chr1	161953713	161953713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgccgtagaaattcctccGgagccccgtgcgccatgtgg	6	9	13	13	4	0	1	0	0	0	1	2	2	2	2	6	2	3	2	6	2	2	3	rs368291911		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:161953713G>A	ENST00000294794.3	-	8	2428	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	OLFML2B_ENST00000367938.1_Missense_Mutation_p.R152W|OLFML2B_ENST00000367940.2_Missense_Mutation_p.R670W	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	669	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			AAATTCCTCCGGAGCCCCGTG	0.577																																																	0								G	TRP/ARG	0,4406		0,0,2203	151	137	142		2005	3.4	0.8	1		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	OLFML2B	NM_015441.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	669/751	161953713	1,13005	2203	4300	6503	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2005C>T	1.37:g.161953713G>A	ENSP00000294794:p.Arg669Trp		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.R669W	ENST00000294794.3	37	c.2005	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167646	0.57476	0.0	1.16E-4	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.90197	-2.63;-2.63;-2.63	5.36	3.39	0.38822	Olfactomedin-like (3);	.	.	.	.	D	0.93680	0.7981	M	0.84948	2.725	0.46874	D	0.999236	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.93987	0.7263	8	0.87932	D	0	.	11.2474	0.49004	0.0:0.0:0.5171:0.4829	.	670;669	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	W	669;670;152	ENSP00000294794:R669W;ENSP00000356917:R670W;ENSP00000356915:R152W	ENSP00000294794:R669W	R	-	1	2	OLFML2B	160220337	1.000000	0.71417	0.846000	0.33378	0.949000	0.60115	3.591000	0.53986	0.552000	0.29026	0.561000	0.74099	CGG	OLFML2B	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.577	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	-	0	100	0	G	NM_015441		161953713	-1	tier1	-	no_errors	ENST00000294794	ensembl	human	known	74_37	missense	47.02	80	71	SNP	0.699	A	A	161953713	G	A	161953713	3	1	61	1	0	0	0	0	1	0	0	0	10897	1115	39	1	251	1	OLFML2B	1	161953713	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2932030	161953713	87296908	12	17291											
FMO4	2329	genome.wustl.edu	37	chr1	171289011	171289011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agctggtgtgagtggcctctCctccatcaaatgctgtgtgg	6	12	13	10	0	2	1	1	1	1	0	4	1	3	1	3	3	2	2	3	3	1	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:171289011C>G	ENST00000367749.3	+	3	377	c.47C>G	c.(46-48)tCc>tGc	p.S16C		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	16					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGTGGCCTCTCCTCCATCAAA	0.458																																					Pancreas(24;816 862 7754 7993 32832)												0													210	193	199					1																	171289011		2203	4300	6503	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.47C>G	1.37:g.171289011C>G	ENSP00000356723:p.Ser16Cys		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.S16C	ENST00000367749.3	37	c.47	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072751	0.36566	.	.	ENSG00000076258	ENST00000367749	T	0.59772	0.24	5.18	5.18	0.71444	.	0.408219	0.26627	N	0.023332	T	0.43389	0.1245	L	0.43554	1.36	0.37878	D	0.930285	B	0.14438	0.01	B	0.29353	0.101	T	0.47018	-0.9149	10	0.56958	D	0.05	-15.0553	17.477	0.87661	0.0:1.0:0.0:0.0	.	16	P31512	FMO4_HUMAN	C	16	ENSP00000356723:S16C	ENSP00000356723:S16C	S	+	2	0	FMO4	169555635	0.052000	0.20516	0.998000	0.56505	0.318000	0.28184	1.857000	0.39399	2.404000	0.81709	0.650000	0.86243	TCC	FMO4	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000076258		0.458	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	-	0	61	0	C	NM_002022		171289011	1	tier1	-	no_errors	ENST00000367749	ensembl	human	known	74_37	missense	46.49	61	53	SNP	1.000	G	G	171289011	C	G	171289011	3	3	61	1	0	0	0	0	1	0	0	0	5979	855	30	5	49	5	FMO4	1	171289011	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	9335298	171289011	77961610	13	17292											
SEC16B	89866	genome.wustl.edu	37	chr1	177905467	177905467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcttggccatcaggaGgctgggaagtttcttgagac	8	11	13	9	0	3	2	1	2	2	1	3	5	3	4	2	4	0	2	2	4	1	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:177905467G>A	ENST00000308284.6	-	20	2626	c.2537C>T	c.(2536-2538)cCt>cTt	p.P846L	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	846					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCCATCAGGAGGCTGGGAAGT	0.463																																																	0													145	140	142					1																	177905467		2001	4190	6191	SO:0001583	missense	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2537C>T	1.37:g.177905467G>A	ENSP00000308339:p.Pro846Leu		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.P846L	ENST00000308284.6	37	c.2537	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	G	6.024	0.372870	0.11409	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.13901	2.55	4.88	2.53	0.30540	.	1.233150	0.05444	N	0.548156	T	0.08492	0.0211	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.24092	0.01;0.007;0.097;0.045	B;B;B;B	0.18871	0.006;0.006;0.023;0.01	T	0.37888	-0.9686	10	0.08599	T	0.76	1.9974	5.1414	0.14961	0.0:0.0977:0.2241:0.6782	.	401;847;846;543	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	L	846;530;561	ENSP00000308339:P846L	ENSP00000239472:P561L	P	-	2	0	AL359075.1	176172090	0.005000	0.15991	0.000000	0.03702	0.063000	0.16089	0.776000	0.26704	0.422000	0.26005	-0.274000	0.10170	CCT	SEC16B	-	NULL	ENSG00000120341		0.463	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	-	0	94	0	G	NM_033127		177905467	-1	tier1	-	no_errors	ENST00000308284	ensembl	human	known	74_37	missense	18.00	82	18	SNP	0.000	A	A	177905467	G	A	177905467	3	1	61	1	0	0	0	0	1	0	0	0	14032	1000	35	3	673	3	SEC16B	1	177905467	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	6616456	177905467	71345154	14	17293											
STX6	10228	genome.wustl.edu	37	chr1	180962536	180962536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctaatgcctgcacagatGaagttgacatctgatctttc	11	12	8	10	0	2	4	0	3	2	1	3	4	2	4	1	0	3	3	1	0	2	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:180962536G>A	ENST00000258301.5	-	4	563	c.326C>T	c.(325-327)tCa>tTa	p.S109L	STX6_ENST00000542060.1_Missense_Mutation_p.S8L	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	109					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						CTGCACAGATGAAGTTGACAT	0.299																																																	0													121	114	116					1																	180962536		2202	4300	6502	SO:0001583	missense	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.326C>T	1.37:g.180962536G>A	ENSP00000258301:p.Ser109Leu		B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S109L	ENST00000258301.5	37	c.326	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035051	0.75617	.	.	ENSG00000135823	ENST00000258301;ENST00000542060	.	.	.	5.61	5.61	0.85477	t-SNARE (1);	0.065701	0.64402	D	0.000006	T	0.50069	0.1594	L	0.36672	1.1	0.32980	D	0.523589	B;B	0.30763	0.294;0.016	B;B	0.24974	0.057;0.01	T	0.53767	-0.8392	8	0.41790	T	0.15	-6.5908	19.2323	0.93845	0.0:0.0:1.0:0.0	.	8;109	B4DR17;O43752	.;STX6_HUMAN	L	109;8	.	ENSP00000258301:S109L	S	-	2	0	STX6	179229159	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	8.101000	0.89546	2.636000	0.89361	0.655000	0.94253	TCA	STX6	-	superfamily_t-SNARE	ENSG00000135823		0.299	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1	-	0	67	0	G	NM_005819		180962536	-1	tier1	-	no_errors	ENST00000258301	ensembl	human	known	74_37	missense	7.61	85	7	SNP	1.000	A	A	180962536	G	A	180962536	3	1	61	1	0	0	0	0	1	0	0	0	15396	1294	45	3	461	3	STX6	1	180962536	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	3057069	180962536	68288085	15	17294											
KCNT2	343450	genome.wustl.edu	37	chr1	196250003	196250003	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaacctcagatgtagtaAgtttctgagactcagtcctg	11	12	8	10	0	3	2	2	1	1	2	5	3	5	2	3	0	1	3	3	0	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:196250003A>C	ENST00000294725.9	-	25	3812	c.2897T>G	c.(2896-2898)cTt>cGt	p.L966R	KCNT2_ENST00000367433.5_Missense_Mutation_p.L942R|KCNT2_ENST00000367431.4_Missense_Mutation_p.L892R|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L892R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	966					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.L966R(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGATGTAGTAAGTTTCTGAGA	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)											93	95	94					1																	196250003		2203	4300	6503	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2897T>G	1.37:g.196250003A>C	ENSP00000294725:p.Leu966Arg		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.L966R	ENST00000294725.9	37	c.2897	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021575	0.54576	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.78246	-1.16;-1.16;-1.16	5.52	5.52	0.82312	.	0.000000	0.53938	D	0.000056	T	0.77075	0.4077	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.51147	0.904;0.942;0.714;0.823;0.904	B;P;P;P;B	0.49799	0.418;0.622;0.499;0.499;0.418	T	0.73216	-0.4053	10	0.13470	T	0.59	-12.0344	14.9129	0.70773	1.0:0.0:0.0:0.0	.	966;924;942;892;966	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	R	942;892;966	ENSP00000356403:L942R;ENSP00000356401:L892R;ENSP00000294725:L966R	ENSP00000294725:L966R	L	-	2	0	KCNT2	194516626	1.000000	0.71417	0.507000	0.27676	0.995000	0.86356	8.347000	0.90062	2.222000	0.72286	0.455000	0.32223	CTT	KCNT2	-	NULL	ENSG00000162687		0.328	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	64	0	A	NM_198503		196250003	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	40.35	34	23	SNP	0.977	C	C	196250003	A	C	196250003	3	2	61	1	0	0	0	0	1	0	0	0	8119	72	3	4	526	4	KCNT2	1	196250003	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	15287467	196250003	53000618	16	17295											
NAV1	89796	genome.wustl.edu	37	chr1	201618309	201618309	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccaacctgggaaagccGagccggatccctcgaggacc	9	3	13	16	4	0	0	0	0	0	0	2	5	1	3	6	3	3	0	6	3	2	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:201618309G>T	ENST00000367296.4	+	1	933	c.513G>T	c.(511-513)ccG>ccT	p.P171P	NAV1_ENST00000367297.4_Silent_p.P171P|NAV1_ENST00000367300.3_Silent_p.P171P|NAV1_ENST00000295624.6_Silent_p.P171P|NAV1_ENST00000367302.1_Silent_p.P184P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	171					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGGAAAGCCGAGCCGGATCC	0.687																																																	0													17	22	20					1																	201618309		2193	4297	6490	SO:0001819	synonymous_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.513G>T	1.37:g.201618309G>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P171	ENST00000367296.4	37	c.513	CCDS1414.2	1																																																																																			NAV1	-	NULL	ENSG00000134369		0.687	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0	25	0	G	NM_020443		201618309	1	tier1	-	no_errors	ENST00000367296	ensembl	human	known	74_37	silent	48.00	26	24	SNP	0.962	T	T	201618309	G	T	201618309	2	4	61	1	0	0	0	0	0	0	0	1	10221	1045	37	2		2	NAV1	1	201618309	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	5368306	201618309	47632312	17	17296											
ZNF496	84838	genome.wustl.edu	37	chr1	247464406	247464406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctcgcctccggcctcGgtgctgctccggtgggaggc	2	8	15	16	4	0	0	0	0	0	0	4	1	2	1	5	5	3	3	5	5	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:247464406G>A	ENST00000294753.4	-	9	1643	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	ZNF496_ENST00000366498.2_Silent_p.T429T|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	393					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTCCGGCCTCGGTGCTGCTCC	0.642																																																	0													33	36	35					1																	247464406		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"Zinc fingers, C2H2-type", "-", "-", "-"	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1179C>T	1.37:g.247464406G>A			Q8TBS2	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T429	ENST00000294753.4	37	c.1287	CCDS1631.1	1																																																																																			ZNF496	-	NULL	ENSG00000162714		0.642	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0	59	0	G	NM_032752		247464406	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	silent	42.35	49	36	SNP	0.000	A	A	247464406	G	A	247464406	2	1	61	1	0	0	0	0	0	0	0	1	17993	1103	39	1		1	ZNF496	1	247464406	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	45846097	247464406	1786215	18	17297											
OR2L2	26246	genome.wustl.edu	37	chr1	248202353	248202353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatacctatgtacgtccaAgatccctgcgatctccaaca	11	11	5	14	2	1	1	0	0	1	1	4	2	3	1	4	0	4	1	4	0	6	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr1:248202353A>G	ENST00000366479.2	+	1	880	c.784A>G	c.(784-786)Aga>Gga	p.R262G	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGTACGTCCAAGATCCCTGCG	0.493																																																	0													145	131	136					1																	248202353		2203	4300	6503	SO:0001583	missense	0			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"GPCR / Class A : Olfactory receptors"	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.784A>G	1.37:g.248202353A>G	ENSP00000355435:p.Arg262Gly		Q2M3T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R262G	ENST00000366479.2	37	c.784	CCDS31103.1	1	.	.	.	.	.	.	.	.	.	.	.	6.342	0.431141	0.12045	.	.	ENSG00000203663	ENST00000366479	T	0.00137	8.68	1.9	0.589	0.17452	GPCR, rhodopsin-like superfamily (1);	0.373938	0.15930	U	0.237735	T	0.00109	0.0003	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.10405	-1.0631	10	0.39692	T	0.17	.	6.4831	0.22073	0.6547:0.3453:0.0:0.0	.	262	Q8NH16	OR2L2_HUMAN	G	262	ENSP00000355435:R262G	ENSP00000355435:R262G	R	+	1	2	OR2L2	246268976	0.000000	0.05858	0.007000	0.13788	0.157000	0.22087	-0.563000	0.05943	0.746000	0.32786	0.163000	0.16589	AGA	OR2L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000203663		0.493	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	HGNC	protein_coding	OTTHUMT00000096871.1	-	0	127	0	A	NM_001004686		248202353	1	tier1	-	no_errors	ENST00000366479	ensembl	human	known	74_37	missense	42.05	102	74	SNP	0.000	G	G	248202353	A	G	248202353	3	3	61	1	0	0	0	0	1	0	0	0	11046	64	3	4	786	4	OR2L2	1	248202353	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	737947	248202353	1048268	19	17298											
KCNK3	3777	genome.wustl.edu	37	chr2	26950852	26950852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaccctcaccaccatcGgcttcggcgactacgtggcg	7	8	9	17	5	3	0	3	0	0	0	5	1	3	0	3	3	1	1	3	3	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:26950852G>A	ENST00000302909.3	+	2	726	c.601G>A	c.(601-603)Ggc>Agc	p.G201S		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	201					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CACCACCATCGGCTTCGGCGA	0.622																																					GBM(80;1457 1631 27100 45946)												0													70	61	64					2																	26950852		2203	4300	6503	SO:0001583	missense	0			AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.601G>A	2.37:g.26950852G>A	ENSP00000306275:p.Gly201Ser		Q53SU2	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl	p.G201S	ENST00000302909.3	37	c.601	CCDS1727.1	2	.	.	.	.	.	.	.	.	.	.	g	26.8	4.771470	0.90108	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	D	0.90324	-2.65	5.11	5.11	0.69529	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.97414	0.9154	H	0.98721	4.31	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98931	1.0787	10	0.87932	D	0	.	16.4019	0.83643	0.0:0.0:1.0:0.0	.	201	O14649	KCNK3_HUMAN	S	78;201	ENSP00000306275:G201S	ENSP00000306275:G201S	G	+	1	0	KCNK3	26804356	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.787000	0.99055	2.535000	0.85469	0.556000	0.70494	GGC	KCNK3	-	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	ENSG00000171303		0.622	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK3	HGNC	protein_coding	OTTHUMT00000246861.2	-	0	65	0	G	NM_002246		26950852	1	tier1	-	no_errors	ENST00000302909	ensembl	human	known	74_37	missense	25.61	61	21	SNP	1.000	A	A	26950852	G	A	26950852	3	1	61	1	0	0	0	0	1	0	0	0	8094	1116	39	1	607	1	KCNK3	2	26950852	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		26950852	216248521	20	17299											
FAM179A	165186	genome.wustl.edu	37	chr2	29247111	29247111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccgaggagatcgcccGctgcttgctgcagaagatgg	8	6	17	10	3	0	3	0	0	0	3	1	6	0	4	2	4	3	4	2	4	1	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:29247111G>A	ENST00000379558.4	+	13	2075	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	FAM179A_ENST00000403861.2_Missense_Mutation_p.R520H|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	575										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGATCGCCCGCTGCTTGCTG	0.597																																																	0													34	35	35					2																	29247111		2037	4177	6214	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1724G>A	2.37:g.29247111G>A	ENSP00000368876:p.Arg575His		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.R575H	ENST00000379558.4	37	c.1724	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332314	0.81801	.	.	ENSG00000189350	ENST00000401723;ENST00000379558;ENST00000403861;ENST00000440012	T;T;T;T	0.67171	2.38;2.38;2.38;-0.25	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.000000	0.64402	D	0.000006	T	0.80649	0.4663	M	0.66939	2.045	0.40314	D	0.978759	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81965	-0.0691	10	0.48119	T	0.1	.	17.7168	0.88340	0.0:0.0:1.0:0.0	.	520;575	F8W8E4;Q6ZUX3	.;F179A_HUMAN	H	10;575;520;70	ENSP00000384897:R10H;ENSP00000368876:R575H;ENSP00000384699:R520H;ENSP00000396739:R70H	ENSP00000368876:R575H	R	+	2	0	FAM179A	29100615	1.000000	0.71417	0.999000	0.59377	0.906000	0.53458	2.793000	0.47845	2.262000	0.75019	0.462000	0.41574	CGC	FAM179A	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000189350		0.597	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0	56	0	G	NM_199280		29247111	1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	33.33	34	17	SNP	1.000	A	A	29247111	G	A	29247111	3	1	61	1	0	0	0	0	1	0	0	0	5524	1087	38	1	1770	1	FAM179A	2	29247111	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2296259	29247111	213952262	21	17300											
ALK	238	genome.wustl.edu	37	chr2	29451843	29451843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccacttcttcatggcctGggggcaggaatgtcctccgg	5	9	12	15	1	2	0	1	0	1	0	4	1	4	1	5	5	0	1	5	5	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:29451843G>T	ENST00000389048.3	-	16	3628	c.2722C>A	c.(2722-2724)Cag>Aag	p.Q908K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	908	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTCATGGCCTGGGGGCAGGAA	0.597			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													32	32	32					2																	29451843		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2722C>A	2.37:g.29451843G>T	ENSP00000373700:p.Gln908Lys		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q908K	ENST00000389048.3	37	c.2722	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140547	0.77775	.	.	ENSG00000171094	ENST00000389048	T	0.76578	-1.03	5.36	5.36	0.76844	.	0.000000	0.45867	D	0.000336	T	0.68146	0.2969	N	0.19112	0.55	0.80722	D	1	B	0.22276	0.067	B	0.29353	0.101	T	0.62163	-0.6912	9	.	.	.	.	19.1002	0.93270	0.0:0.0:1.0:0.0	.	908	Q9UM73	ALK_HUMAN	K	908	ENSP00000373700:Q908K	.	Q	-	1	0	ALK	29305347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.770000	0.74990	2.508000	0.84585	0.561000	0.74099	CAG	ALK	-	NULL	ENSG00000171094		0.597	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0	36	0	G	NM_004304		29451843	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T	T	29451843	G	T	29451843	3	4	61	1	0	0	0	0	1	0	0	0	525	1357	47	3	2196	3	ALK	2	29451843	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	204732	29451843	213747530	22	17301											
SPAST	6683	genome.wustl.edu	37	chr2	32361662	32361662	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagaaattggtgagggctCtttttgctgtggctcgagaa	9	12	15	5	1	1	3	0	1	1	2	2	6	1	3	0	3	1	3	0	3	2	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:32361662C>G	ENST00000315285.3	+	10	1401	c.1276C>G	c.(1276-1278)Ctt>Gtt	p.L426V	SPAST_ENST00000345662.1_Missense_Mutation_p.L394V	NM_014946.3	NP_055761.2			spastin									p.L426V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTGAGGGCTCTTTTTGCTGT	0.323																																																	1	Substitution - Missense(1)	lung(1)	GRCh37	CD052507|CM000436	SPAST	D|M							126	130	129					2																	32361662		2203	4300	6503	SO:0001583	missense	0			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1276C>G	2.37:g.32361662C>G	ENSP00000320885:p.Leu426Val			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.L426V	ENST00000315285.3	37	c.1276	CCDS1778.1	2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391705	0.83011	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.95272	-3.66;-3.66	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	L	0.43701	1.375	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.76575	0.975;0.988	D	0.96388	0.9287	10	0.87932	D	0	-26.1356	17.4494	0.87588	0.0:1.0:0.0:0.0	.	394;426	E5KRP6;Q9UBP0	.;SPAST_HUMAN	V	394;426	ENSP00000340817:L394V;ENSP00000320885:L426V	ENSP00000320885:L426V	L	+	1	0	SPAST	32215166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.502000	0.73695	2.660000	0.90430	0.655000	0.94253	CTT	SPAST	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Spastin	ENSG00000021574		0.323	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1	-	0	132	0	C	NM_199436		32361662	1	tier1	-	no_errors	ENST00000315285	ensembl	human	known	74_37	missense	9.72	130	14	SNP	1.000	G	G	32361662	C	G	32361662	3	3	61	1	0	0	0	0	1	0	0	0	15044	913	32	5	1314	5	SPAST	2	32361662	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	2909819	32361662	210837711	23	17302											
ETAA1	54465	genome.wustl.edu	37	chr2	67630536	67630536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacagatgtggtcattacAtaatatagttcccgaaatag	15	13	7	6	1	1	1	1	0	0	1	2	2	2	1	1	1	2	1	1	1	8	8			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:67630536A>G	ENST00000272342.5	+	5	852	c.722A>G	c.(721-723)cAt>cGt	p.H241R	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	241						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGGTCATTACATAATATAGTT	0.303																																																	0													48	54	52					2																	67630536		2199	4297	6496	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.722A>G	2.37:g.67630536A>G	ENSP00000272342:p.His241Arg		Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.H241R	ENST00000272342.5	37	c.722	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	A	4.376	0.069272	0.08436	.	.	ENSG00000143971	ENST00000272342	T	0.17054	2.3	5.96	-11.9	0.00025	.	1.959440	0.01916	N	0.040151	T	0.09992	0.0245	L	0.51422	1.61	0.09310	N	1	P	0.38420	0.63	B	0.31495	0.131	T	0.14227	-1.0480	10	0.28530	T	0.3	-17.3627	4.4264	0.11505	0.5737:0.0866:0.1901:0.1496	.	241	Q9NY74	ETAA1_HUMAN	R	241	ENSP00000272342:H241R	ENSP00000272342:H241R	H	+	2	0	ETAA1	67484040	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.109000	0.10840	-1.928000	0.01059	-0.924000	0.02725	CAT	ETAA1	-	NULL	ENSG00000143971		0.303	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	45	0	A	NM_019002		67630536	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	missense	23.40	36	11	SNP	0.000	G	G	67630536	A	G	67630536	3	3	61	1	0	0	0	0	1	0	0	0	5283	217	8	4	740	4	ETAA1	2	67630536	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	35268874	67630536	175568837	24	17303											
CNTNAP5	129684	genome.wustl.edu	37	chr2	124979370	124979370	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcactcacagcccagctcaActcaactggagagttggtaa	12	7	10	12	0	3	1	3	0	0	1	3	2	3	1	1	3	4	4	1	3	3	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:124979370A>C	ENST00000431078.1	+	2	535	c.171A>C	c.(169-171)caA>caC	p.Q57H		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	57	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCCAGCTCAACTCAACTGGA	0.473																																																	0													64	60	62					2																	124979370		1979	4167	6146	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.171A>C	2.37:g.124979370A>C	ENSP00000399013:p.Gln57His		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q57H	ENST00000431078.1	37	c.171	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329454	0.41197	.	.	ENSG00000155052	ENST00000431078	D	0.97232	-4.3	5.5	-5.67	0.02444	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.150668	0.29830	N	0.011097	D	0.93743	0.8000	L	0.46157	1.445	0.31120	N	0.708938	B	0.10296	0.003	B	0.15052	0.012	T	0.77938	-0.2400	10	0.48119	T	0.1	.	16.9853	0.86338	0.343:0.0:0.657:0.0	.	57	Q8WYK1	CNTP5_HUMAN	H	57	ENSP00000399013:Q57H	ENSP00000399013:Q57H	Q	+	3	2	CNTNAP5	124695840	0.223000	0.23663	0.887000	0.34795	0.949000	0.60115	-0.798000	0.04565	-1.037000	0.03283	-0.256000	0.11100	CAA	CNTNAP5	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000155052		0.473	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	42	0	A			124979370	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.768	C	C	124979370	A	C	124979370	3	2	61	1	0	0	0	0	1	0	0	0	3657	40	2	4	177	4	CNTNAP5	2	124979370	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	57348834	124979370	118220003	25	17304											
LRP1B	53353	genome.wustl.edu	37	chr2	141459345	141459345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggttgactccaaggccGgttctcatggttatcgtttc	6	15	10	10	2	2	1	2	1	1	0	6	1	3	1	2	4	0	4	2	4	2	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:141459345G>A	ENST00000389484.3	-	40	7343	c.6372C>T	c.(6370-6372)acC>acT	p.T2124T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2124					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCCAAGGCCGGTTCTCATGG	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													160	147	151					2																	141459345		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6372C>T	2.37:g.141459345G>A			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T2124	ENST00000389484.3	37	c.6372	CCDS2182.1	2																																																																																			LRP1B	-	NULL	ENSG00000168702		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	55	0	G	NM_018557		141459345	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.863	A	A	141459345	G	A	141459345	2	1	61	1	0	0	0	0	0	0	0	1	8990	1103	39	1		1	LRP1B	2	141459345	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	16479975	141459345	101740028	26	17305											
TANC1	85461	genome.wustl.edu	37	chr2	160050795	160050795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctcctgattttgggagggGccaacgtgaactacaggaca	10	9	13	9	1	1	2	0	2	1	0	2	4	1	4	2	4	3	0	2	4	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:160050795G>A	ENST00000263635.6	+	17	3007	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T	TANC1_ENST00000454300.1_Missense_Mutation_p.A818T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	924					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTTGGGAGGGGCCAACGTGAA	0.498																																																	0													76	76	76					2																	160050795		1962	4144	6106	SO:0001583	missense	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2770G>A	2.37:g.160050795G>A	ENSP00000263635:p.Ala924Thr		C9JD88|Q49AI8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A924T	ENST00000263635.6	37	c.2770	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.702194	0.96812	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.27256	1.68;1.68	5.64	5.64	0.86602	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.65713	-0.6101	10	0.87932	D	0	.	19.7763	0.96395	0.0:0.0:1.0:0.0	.	916;818;924	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	T	818;924	ENSP00000396339:A818T;ENSP00000263635:A924T	ENSP00000263635:A924T	A	+	1	0	TANC1	159759041	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.865000	0.99609	2.685000	0.91497	0.650000	0.86243	GCC	TANC1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115183		0.498	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	-	0	53	0	G			160050795	1	tier1	-	no_errors	ENST00000263635	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	160050795	G	A	160050795	3	1	61	1	0	0	0	0	1	0	0	0	15591	1203	42	3	2828	3	TANC1	2	160050795	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	18591450	160050795	83148578	27	17306											
SCN1A	6323	genome.wustl.edu	37	chr2	166868761	166868761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaacatcgtcttaatcgtcTttcgctgatcaatatatata	12	15	4	10	3	3	1	1	1	2	0	6	1	3	1	1	0	1	1	1	0	7	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:166868761T>G	ENST00000303395.4	-	19	3736	c.3737A>C	c.(3736-3738)aAg>aCg	p.K1246T	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.K1218T|SCN1A_ENST00000375405.3_Missense_Mutation_p.K1235T|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.K1246T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1246					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTAATCGTCTTTCGCTGATC	0.289																																																	0													65	62	63					2																	166868761		2202	4299	6501	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3737A>C	2.37:g.166868761T>G	ENSP00000303540:p.Lys1246Thr		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.K1246T	ENST00000303395.4	37	c.3737	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806805	0.90623	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000006	D	0.97879	0.9303	L	0.59912	1.85	0.58432	D	0.999999	D;D;P	0.71674	0.993;0.998;0.94	P;D;P	0.78314	0.851;0.991;0.694	D	0.98891	1.0773	10	0.72032	D	0.01	.	15.87	0.79108	0.0:0.0:0.0:1.0	.	1235;1218;1246	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	1246;1246;1235;1218	ENSP00000407030:K1246T;ENSP00000303540:K1246T;ENSP00000364554:K1235T;ENSP00000386312:K1218T	ENSP00000303540:K1246T	K	-	2	0	SCN1A	166577007	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.232000	0.72313	2.137000	0.66172	0.455000	0.32223	AAG	SCN1A	-	NULL	ENSG00000144285		0.289	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	53	0	T	NM_006920		166868761	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	G	G	166868761	T	G	166868761	3	3	61	1	0	0	0	0	1	0	0	0	13959	1609	56	4	2324	4	SCN1A	2	166868761	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	6817966	166868761	76330612	28	17307											
PDE11A	50940	genome.wustl.edu	37	chr2	178936681	178936681	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggtggggggcagggagcTtgccttccggagaagtgccc	5	8	19	9	1	0	1	0	0	0	1	1	3	1	2	3	6	3	2	3	6	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:178936681T>C	ENST00000286063.6	-	1	801	c.484A>G	c.(484-486)Agc>Ggc	p.S162G	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	162					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	GGCAGGGAGCTTGCCTTCCGG	0.592									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													73	71	72					2																	178936681		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"Phosphodiesterases"	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.484A>G	2.37:g.178936681T>C	ENSP00000286063:p.Ser162Gly		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S162G	ENST00000286063.6	37	c.484	CCDS33334.1	2	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839451	0.51057	.	.	ENSG00000128655	ENST00000286063	T	0.69926	-0.44	4.92	4.92	0.64577	.	0.354502	0.37761	N	0.001943	T	0.61825	0.2378	L	0.54323	1.7	0.80722	D	1	P	0.47409	0.895	B	0.41236	0.351	T	0.63839	-0.6546	10	0.37606	T	0.19	.	13.7407	0.62847	0.0:0.0:0.0:1.0	.	162	Q9HCR9	PDE11_HUMAN	G	162	ENSP00000286063:S162G	ENSP00000286063:S162G	S	-	1	0	PDE11A	178644927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.527000	0.81931	1.850000	0.53721	0.533000	0.62120	AGC	PDE11A	-	NULL	ENSG00000128655		0.592	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2		0	36	0	T			178936681	-1			no_errors	ENST00000286063	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	C	C	178936681	T	C	178936681	3	2	61	1	0	0	0	0	1	0	0	0	11670	1609	56	4	2397	4	PDE11A	2	178936681	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	12067920	178936681	64262692	29	17308											
WDR12	55759	genome.wustl.edu	37	chr2	203745605	203745605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccccaacatgggaagtgGtaggtgaatatctgtaggaa	13	9	13	6	0	1	1	0	1	1	0	1	3	1	3	2	4	2	2	2	4	7	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:203745605G>A	ENST00000261015.4	-	13	1999	c.1250C>T	c.(1249-1251)aCc>aTc	p.T417I		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ATGGGAAGTGGTAGGTGAATA	0.333																																																	0													67	63	65					2																	203745605		2203	4298	6501	SO:0001583	missense	0			AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"WD repeat domain containing"	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1250C>T	2.37:g.203745605G>A	ENSP00000261015:p.Thr417Ile			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T417I	ENST00000261015.4	37	c.1250	CCDS2356.1	2	.	.	.	.	.	.	.	.	.	.	G	16.43	3.122083	0.56613	.	.	ENSG00000138442	ENST00000261015	T	0.56611	0.45	4.82	4.82	0.62117	WD40-repeat-containing domain (1);	0.258920	0.36482	N	0.002572	T	0.44871	0.1314	L	0.36672	1.1	0.38873	D	0.956746	B	0.30482	0.281	B	0.27170	0.077	T	0.45026	-0.9289	10	0.36615	T	0.2	-5.2831	17.9391	0.89021	0.0:0.0:1.0:0.0	.	417	Q9GZL7	WDR12_HUMAN	I	417	ENSP00000261015:T417I	ENSP00000261015:T417I	T	-	2	0	WDR12	203453850	1.000000	0.71417	0.997000	0.53966	0.915000	0.54546	7.155000	0.77445	2.402000	0.81655	0.650000	0.86243	ACC	WDR12	-	pfscan_WD40_repeat_dom	ENSG00000138442		0.333	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR12	HGNC	protein_coding	OTTHUMT00000256329.4	-	0	45	0	G	NM_018256		203745605	-1	tier1	-	no_errors	ENST00000261015	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.943	A	A	203745605	G	A	203745605	3	1	61	1	0	0	0	0	1	0	0	0	17323	1261	44	3	25	3	WDR12	2	203745605	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	24808924	203745605	39453768	30	17309											
ABCA12	26154	genome.wustl.edu	37	chr2	215917224	215917224	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagttaccttttccaagccaAgaattcgtgcgagcacttga	12	11	8	10	2	0	2	0	1	0	1	2	3	1	2	3	0	4	2	3	0	5	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr2:215917224A>C	ENST00000272895.7	-	5	713	c.494T>G	c.(493-495)cTt>cGt	p.L165R		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	165					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCAAGCCAAGAATTCGTGC	0.393																																					Ovarian(66;664 1488 5121 34295)												0													88	83	85					2																	215917224		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.494T>G	2.37:g.215917224A>C	ENSP00000272895:p.Leu165Arg		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L165R	ENST00000272895.7	37	c.494	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	18.74	3.689447	0.68271	.	.	ENSG00000144452	ENST00000272895	D	0.90197	-2.63	5.64	5.64	0.86602	.	0.118063	0.38164	N	0.001788	D	0.90570	0.7044	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	D	0.90678	0.4603	10	0.46703	T	0.11	.	12.2624	0.54658	1.0:0.0:0.0:0.0	.	165	Q86UK0	ABCAC_HUMAN	R	165	ENSP00000272895:L165R	ENSP00000272895:L165R	L	-	2	0	ABCA12	215625469	0.998000	0.40836	0.838000	0.33150	0.904000	0.53231	4.138000	0.58017	2.147000	0.66899	0.455000	0.32223	CTT	ABCA12	-	NULL	ENSG00000144452		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	36	0	A	NM_173076		215917224	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	45.00	11	9	SNP	0.891	C	C	215917224	A	C	215917224	3	2	61	1	0	0	0	0	1	0	0	0	30	72	3	4	7520	4	ABCA12	2	215917224	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	12171619	215917224	27282149	31	17310											
ATP2B2	491	genome.wustl.edu	37	chr3	10400482	10400482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgctggggaagtcgcGgtaggccacgcagatagtgc	7	6	18	10	4	0	1	0	0	0	1	1	2	0	2	1	5	2	4	1	5	3	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:10400482G>A	ENST00000352432.4	-	13	2098	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R677C|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R632C|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R663C|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R632C			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	677					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGGAAGTCGCGGTAGGCCACG	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)												0													63	53	56					3																	10400482		2203	4300	6503	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2029C>T	3.37:g.10400482G>A	ENSP00000324172:p.Arg677Cys		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.R677C	ENST00000352432.4	37	c.2029	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099322	0.76983	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	4.65	2.76	0.32466	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	M	0.83384	2.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	D	0.99069	1.0833	10	0.87932	D	0	-19.1534	13.1409	0.59434	0.0:0.0:0.5844:0.4156	.	612;644;677	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	C	677;632;632;677;663;612;533;677	ENSP00000324172:R677C;ENSP00000373311:R632C;ENSP00000380267:R632C;ENSP00000353414:R677C;ENSP00000344677:R663C;ENSP00000414854:R533C	ENSP00000342954:R677C	R	-	1	0	ATP2B2	10375482	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	4.791000	0.62460	0.349000	0.23975	0.491000	0.48974	CGC	ATP2B2	-	superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000157087		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0	38	0	G	NM_001683		10400482	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	41.86	50	36	SNP	1.000	A	A	10400482	G	A	10400482	3	1	61	1	0	0	0	0	1	0	0	0	1141	1116	39	1	1742	1	ATP2B2	3	10400482	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		10400482	187621948	32	17311											
TRIM71	131405	genome.wustl.edu	37	chr3	32931919	32931919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagctgcggcaaaaccTcaacaagcttgagagcacca	15	4	11	11	1	1	2	1	1	0	2	1	4	1	2	2	2	6	4	2	2	5	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:32931919T>C	ENST00000383763.5	+	4	1286	c.1223T>C	c.(1222-1224)cTc>cCc	p.L408P		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	408					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGGCAAAACCTCAACAAGCTT	0.567																																																	0													70	77	75					3																	32931919		2070	4199	6269	SO:0001583	missense	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1223T>C	3.37:g.32931919T>C	ENSP00000373272:p.Leu408Pro			Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.L408P	ENST00000383763.5	37	c.1223	CCDS43060.1	3	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085678	0.55861	.	.	ENSG00000206557	ENST00000383763	D	0.86097	-2.07	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86685	0.1919	10	0.33141	T	0.24	-35.9861	14.7087	0.69211	0.0:0.0:0.0:1.0	.	408	Q2Q1W2	LIN41_HUMAN	P	408	ENSP00000373272:L408P	ENSP00000373272:L408P	L	+	2	0	TRIM71	32906923	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	6.287000	0.72671	2.169000	0.68431	0.528000	0.53228	CTC	TRIM71	-	NULL	ENSG00000206557		0.567	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3	-	0	67	0	T	NM_001039111		32931919	1	tier1	-	no_errors	ENST00000383763	ensembl	human	known	74_37	missense	6.67	168	12	SNP	1.000	C	C	32931919	T	C	32931919	3	2	61	1	0	0	0	0	1	0	0	0	16592	1551	54	4	1237	4	TRIM71	3	32931919	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	22531437	32931919	165090511	33	17312											
NBEAL2	23218	genome.wustl.edu	37	chr3	47044771	47044771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggaggaccagctcggcGaggacgagctggctgagctg	8	5	18	10	3	0	1	0	1	0	0	1	6	0	4	1	5	4	5	1	5	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:47044771G>A	ENST00000450053.3	+	35	5871	c.5692G>A	c.(5692-5694)Gag>Aag	p.E1898K	NBEAL2_ENST00000383740.2_Missense_Mutation_p.E177K|NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1714K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1898					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCAGCTCGGCGAGGACGAGCT	0.647																																																	0													28	34	32					3																	47044771		1964	4139	6103	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5692G>A	3.37:g.47044771G>A	ENSP00000415034:p.Glu1898Lys		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1898K	ENST00000450053.3	37	c.5692	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.25|19.25	3.792186|3.792186	0.70452|0.70452	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053|ENST00000443829	T;T;T|.	0.59906|.	0.27;0.93;0.23|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.600314|.	0.17168|.	N|.	0.184382|.	T|T	0.68686|0.68686	0.3028|0.3028	L|L	0.54323|0.54323	1.7|1.7	0.48975|0.48975	D|D	0.999733|0.999733	D;P|.	0.89917|.	1.0;0.794|.	D;B|.	0.64506|.	0.926;0.143|.	T|T	0.66296|0.66296	-0.5959|-0.5959	10|5	0.38643|.	T|.	0.18|.	.|.	15.19|15.19	0.73035|0.73035	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1714;1898|.	Q6ZNJ1-2;Q6ZNJ1|.	.;NBEL2_HUMAN|.	K|Q	1714;177;1898|266	ENSP00000292309:E1714K;ENSP00000373246:E177K;ENSP00000415034:E1898K|.	ENSP00000292309:E1714K|.	E|R	+|+	1|2	0|0	NBEAL2|NBEAL2	47019775|47019775	1.000000|1.000000	0.71417|0.71417	0.241000|0.241000	0.24154|0.24154	0.005000|0.005000	0.04900|0.04900	7.899000|7.899000	0.87370|0.87370	2.610000|2.610000	0.88304|0.88304	0.655000|0.655000	0.94253|0.94253	GAG|CGA	NBEAL2	-	NULL	ENSG00000160796		0.647	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	34	0	G	XM_291064		47044771	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.996	A	A	47044771	G	A	47044771	3	1	61	1	0	0	0	0	1	0	0	0	10227	1059	37	1	5830	1	NBEAL2	3	47044771	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	14112852	47044771	150977659	34	17313											
OR5H6	79295	genome.wustl.edu	37	chr3	97983517	97983517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaccacagaatgttttcTcttggcaacaatggcatatg	12	13	8	8	0	1	1	0	0	1	1	2	1	1	1	1	2	2	4	1	2	5	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:97983517T>C	ENST00000383696.2	+	1	430	c.389T>C	c.(388-390)cTc>cCc	p.L130P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GAATGTTTTCTCTTGGCAACA	0.368																																																	0													99	87	91					3																	97983517		2202	4298	6500	SO:0001583	missense	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.389T>C	3.37:g.97983517T>C	ENSP00000373196:p.Leu130Pro		Q6IF88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L130P	ENST00000383696.2	37	c.389	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	11.56	1.675418	0.29783	.	.	ENSG00000230301	ENST00000383696	T	0.00594	6.33	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.170613	0.28140	N	0.016443	T	0.03739	0.0106	H	0.96048	3.76	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.09640	-1.0665	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	130	Q8NGV6	OR5H6_HUMAN	P	130	ENSP00000373196:L130P	ENSP00000373196:L130P	L	+	2	0	OR5H6	99466207	0.030000	0.19436	0.050000	0.19076	0.008000	0.06430	2.343000	0.44001	1.006000	0.39211	0.163000	0.16589	CTC	OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000230301		0.368	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0	78	0	T			97983517	1	tier1	-	no_errors	ENST00000383696	ensembl	human	known	74_37	missense	20.79	80	21	SNP	0.006	C	C	97983517	T	C	97983517	3	2	61	1	0	0	0	0	1	0	0	0	11202	1551	54	4	391	4	OR5H6	3	97983517	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	50938746	97983517	100038913	35	17314											
IMPG2	50939	genome.wustl.edu	37	chr3	101010330	101010330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagacactcacctgcttaCagtttcctttgcataagtca	12	12	6	11	0	2	1	2	0	0	1	3	2	3	1	2	0	3	3	2	0	3	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:101010330C>A	ENST00000193391.7	-	4	713	c.526G>T	c.(526-528)Gta>Tta	p.V176L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	176					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CACCTGCTTACAGTTTCCTTT	0.338																																																	0													92	89	90					3																	101010330		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.526G>T	3.37:g.101010330C>A	ENSP00000193391:p.Val176Leu		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.V176L	ENST00000193391.7	37	c.526	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	c	9.922	1.212344	0.22289	.	.	ENSG00000081148	ENST00000193391	T	0.22336	1.96	5.28	-6.53	0.01866	.	1.417710	0.04218	N	0.332989	T	0.10594	0.0259	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.24621	-1.0155	10	0.18710	T	0.47	0.3913	0.8651	0.01202	0.2054:0.1857:0.2021:0.4067	.	176;176	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	L	176	ENSP00000193391:V176L	ENSP00000193391:V176L	V	-	1	0	IMPG2	102493020	0.005000	0.15991	0.004000	0.12327	0.974000	0.67602	-0.420000	0.07062	-1.269000	0.02436	-0.119000	0.15052	GTA	IMPG2	-	NULL	ENSG00000081148		0.338	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0	43	0	C			101010330	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	missense	28.81	42	17	SNP	0.000	A	A	101010330	C	A	101010330	3	1	61	1	0	0	0	0	1	0	0	0	7756	478	17	3	3263	3	IMPG2	3	101010330	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	3026813	101010330	97012100	36	17315											
PLXND1	23129	genome.wustl.edu	37	chr3	129288771	129288771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccccagctgcagtgtggcGatggtctggttgaagttccc	5	10	13	13	1	1	1	0	1	1	0	2	2	2	1	4	3	2	4	4	3	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:129288771G>A	ENST00000324093.4	-	20	3958	c.3780C>T	c.(3778-3780)atC>atT	p.I1260I	PLXND1_ENST00000393239.1_Silent_p.I1260I	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1260					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCAGTGTGGCGATGGTCTGGT	0.587																																					Ovarian(97;366 1484 3738 22084 39045)												0													87	74	79					3																	129288771		2203	4300	6503	SO:0001819	synonymous_variant	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3780C>T	3.37:g.129288771G>A			A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.I1260	ENST00000324093.4	37	c.3780	CCDS33854.1	3																																																																																			PLXND1	-	superfamily_Ig_E-set	ENSG00000004399		0.587	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	25	0	G	NM_015103		129288771	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.934	A	A	129288771	G	A	129288771	2	1	61	1	0	0	0	0	0	0	0	1	12166	1048	37	1		1	PLXND1	3	129288771	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	28278441	129288771	68733659	37	17316											
COL6A5	256076	genome.wustl.edu	37	chr3	130159234	130159234	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctattctccttgggaaAgttccaggagaaagatgggt	11	11	13	6	0	1	3	0	1	1	2	3	5	2	4	2	3	1	2	2	3	3	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:130159234A>C	ENST00000432398.2	+	35	6546	c.6052A>C	c.(6052-6054)Agt>Cgt	p.S2018R	COL6A5_ENST00000265379.6_Missense_Mutation_p.S2018R	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2018	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCCTTGGGAAAGTTCCAGGAG	0.408																																																	0													87	81	83					3																	130159234		1867	4103	5970	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6052A>C	3.37:g.130159234A>C	ENSP00000390895:p.Ser2018Arg		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.S2018R	ENST00000432398.2	37	c.6052		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.209|1.209	-0.630326|-0.630326	0.03610|0.03610	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379	.|D;D	.|0.82433	.|-1.61;-1.61	4.87|4.87	-4.99|-4.99	0.03010|0.03010	.|von Willebrand factor, type A (3);	.|1.549430	.|0.03900	.|N	.|0.280159	T|T	0.67534|0.67534	0.2903|0.2903	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.12156	.|0.007;0.003	T|T	0.49661|0.49661	-0.8916|-0.8916	5|10	.|0.24483	.|T	.|0.36	.|.	2.9221|2.9221	0.05772|0.05772	0.2743:0.1186:0.4337:0.1733|0.2743:0.1186:0.4337:0.1733	.|.	.|2018;2018	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	T|R	269|2018	.|ENSP00000390895:S2018R;ENSP00000265379:S2018R	.|ENSP00000265379:S2018R	K|S	+|+	2|1	0|0	COL6A5|COL6A5	131641924|131641924	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.180000|-0.180000	0.09754|0.09754	-0.524000|-0.524000	0.06400|0.06400	-0.256000|-0.256000	0.11100|0.11100	AAG|AGT	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	45	0	A	NM_153264		130159234	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.000	C	C	130159234	A	C	130159234	3	2	61	1	0	0	0	0	1	0	0	0	3709	72	3	4	6186	4	COL6A5	3	130159234	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	870463	130159234	67863196	38	17317											
COL6A6	131873	genome.wustl.edu	37	chr3	130380752	130380752	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttagagctgagttcaaTcttaccacctacagaagtaa	14	10	7	10	0	2	3	1	1	1	2	2	3	2	3	3	0	3	4	3	0	6	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:130380752T>G	ENST00000358511.6	+	34	6133	c.6102T>G	c.(6100-6102)aaT>aaG	p.N2034K	COL6A6_ENST00000453409.2_Missense_Mutation_p.N2034K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2034	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGAGTTCAATCTTACCACCT	0.498																																																	0													69	66	67					3																	130380752		1897	4116	6013	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6102T>G	3.37:g.130380752T>G	ENSP00000351310:p.Asn2034Lys		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.N2034K	ENST00000358511.6	37	c.6102	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	T	14.63	2.593099	0.46214	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.14266	2.52;2.52	6.04	2.86	0.33363	von Willebrand factor, type A (3);	.	.	.	.	T	0.19446	0.0467	N	0.19112	0.55	0.30213	N	0.797545	D;B	0.71674	0.998;0.151	D;B	0.79784	0.993;0.108	T	0.08411	-1.0723	9	0.23302	T	0.38	.	10.854	0.46786	0.0:0.7025:0.0:0.2975	.	2034;2034	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	K	2034	ENSP00000351310:N2034K;ENSP00000399236:N2034K	ENSP00000351310:N2034K	N	+	3	2	COL6A6	131863442	0.971000	0.33674	1.000000	0.80357	0.640000	0.38277	0.039000	0.13884	0.877000	0.35895	-0.366000	0.07423	AAT	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	27	0	T	NM_001102608		130380752	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.995	G	G	130380752	T	G	130380752	3	3	61	1	0	0	0	0	1	0	0	0	3710	1432	50	4	6236	4	COL6A6	3	130380752	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	221518	130380752	67641678	39	17318											
STAG1	10274	genome.wustl.edu	37	chr3	136221515	136221515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaacctttcattggctctCttcccaatcattttatttct	7	19	2	13	0	4	0	2	0	2	0	7	0	6	0	3	1	1	1	3	1	3	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:136221515C>T	ENST00000383202.2	-	8	1039	c.783G>A	c.(781-783)aaG>aaA	p.K261K	STAG1_ENST00000434713.2_Silent_p.K35K|STAG1_ENST00000236698.5_Silent_p.K261K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	261					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CATTGGCTCTCTTCCCAATCA	0.378																																																	0													175	166	169					3																	136221515		2203	4300	6503	SO:0001819	synonymous_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.783G>A	3.37:g.136221515C>T			O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.K261	ENST00000383202.2	37	c.783	CCDS3090.1	3																																																																																			STAG1	-	pfam_STAG,superfamily_ARM-type_fold	ENSG00000118007		0.378	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	-	0	61	0	C	NM_005862		136221515	-1	tier1	-	no_errors	ENST00000383202	ensembl	human	known	74_37	silent	52.00	36	39	SNP	1.000	T	T	136221515	C	T	136221515	2	4	61	1	0	0	0	0	0	0	0	1	15289	912	32	3		3	STAG1	3	136221515	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	5840763	136221515	61800915	40	17319											
TRIM42	287015	genome.wustl.edu	37	chr3	140406766	140406766	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgaaaaatatgtgtaTgttacaaccatgaaagtgaa	19	11	8	3	0	0	3	0	3	0	0	0	4	0	3	1	0	2	2	1	0	9	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:140406766T>C	ENST00000286349.3	+	3	1433	c.1242T>C	c.(1240-1242)taT>taC	p.Y414Y		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	414						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AATATGTGTATGTTACAACCA	0.463																																																	0													102	97	99					3																	140406766		2203	4300	6503	SO:0001819	synonymous_variant	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1242T>C	3.37:g.140406766T>C			A1L4B4|Q8N832|Q8NDL3	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.Y414	ENST00000286349.3	37	c.1242	CCDS3113.1	3																																																																																			TRIM42	-	NULL	ENSG00000155890		0.463	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0	33	0	T	NM_152616		140406766	1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.000	C	C	140406766	T	C	140406766	2	2	61	1	0	0	0	0	0	0	0	1	16565	1471	51	4		4	TRIM42	3	140406766	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	4185251	140406766	57615664	41	17320											
MED12L	116931	genome.wustl.edu	37	chr3	151095844	151095844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggtggcccccctcatcgCcaggttgccaacttctgtgc	4	11	11	15	1	2	0	1	0	1	0	3	0	2	0	5	3	3	2	5	3	1	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:151095844C>T	ENST00000474524.1	+	29	4294	c.4256C>T	c.(4255-4257)gCc>gTc	p.A1419V	MED12L_ENST00000273432.4_Missense_Mutation_p.A1279V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1419						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCCTCATCGCCAGGTTGCCA	0.537																																																	0													93	90	91					3																	151095844		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4256C>T	3.37:g.151095844C>T	ENSP00000417235:p.Ala1419Val		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.A1419V	ENST00000474524.1	37	c.4256	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890597	0.91889	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62639	0.01;0.01	5.28	5.28	0.74379	.	0.061586	0.64402	D	0.000004	T	0.78553	0.4301	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.988;0.99	D;P;P	0.75484	0.986;0.783;0.815	T	0.80730	-0.1252	10	0.87932	D	0	-17.6452	18.5258	0.90971	0.0:1.0:0.0:0.0	.	1279;1418;1419	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	V	1419;1279	ENSP00000417235:A1419V;ENSP00000273432:A1279V	ENSP00000273432:A1279V	A	+	2	0	MED12L	152578534	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.151000	0.77411	2.469000	0.83416	0.655000	0.94253	GCC	MED12L	-	NULL	ENSG00000144893		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	51	0	C	NM_053002		151095844	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T	T	151095844	C	T	151095844	3	4	61	1	0	0	0	0	1	0	0	0	9467	739	26	3	4370	3	MED12L	3	151095844	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	10689078	151095844	46926586	42	17321											
SI	6476	genome.wustl.edu	37	chr3	164724661	164724661	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaacatcgtaatgcaaaActgatgttccatcactaaga	15	11	7	8	1	1	3	1	2	0	1	3	3	2	3	1	0	3	3	1	0	5	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:164724661A>C	ENST00000264382.3	-	37	4411	c.4349T>G	c.(4348-4350)gTt>gGt	p.V1450G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1450	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTAATGCAAAACTGATGTTCC	0.358										HNSCC(35;0.089)																																							0													128	114	119					3																	164724661		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4349T>G	3.37:g.164724661A>C	ENSP00000264382:p.Val1450Gly		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.V1450G	ENST00000264382.3	37	c.4349	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	15.83	2.950345	0.53186	.	.	ENSG00000090402	ENST00000264382	D	0.92752	-3.1	5.62	5.62	0.85841	Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000001	D	0.95765	0.8622	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.96230	0.9167	10	0.87932	D	0	.	14.7915	0.69846	1.0:0.0:0.0:0.0	.	1450	P14410	SUIS_HUMAN	G	1450	ENSP00000264382:V1450G	ENSP00000264382:V1450G	V	-	2	0	SI	166207355	1.000000	0.71417	0.581000	0.28614	0.107000	0.19398	6.566000	0.73978	2.139000	0.66308	0.397000	0.26171	GTT	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	50	0	A	NM_001041		164724661	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	25.37	50	17	SNP	0.995	C	C	164724661	A	C	164724661	3	2	61	1	0	0	0	0	1	0	0	0	14342	43	2	4	1182	4	SI	3	164724661	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	13628817	164724661	33297769	43	17322											
ZBBX	79740	genome.wustl.edu	37	chr3	167039988	167039988	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaagtggttctctccaaatTttcagattagtctgtacttc	9	18	6	8	0	3	1	1	0	2	1	6	1	4	1	1	1	1	2	1	1	4	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:167039988T>A	ENST00000392766.2	-	12	1240	c.900A>T	c.(898-900)aaA>aaT	p.K300N	ZBBX_ENST00000307529.5_Missense_Mutation_p.K300N|ZBBX_ENST00000392767.2_Missense_Mutation_p.K300N|ZBBX_ENST00000455345.2_Missense_Mutation_p.K300N|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392764.1_Missense_Mutation_p.K271N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	300						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCTCCAAATTTTCAGATTAG	0.279																																																	0													75	70	71					3																	167039988		1789	4041	5830	SO:0001583	missense	0			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.900A>T	3.37:g.167039988T>A	ENSP00000376519:p.Lys300Asn		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.K300N	ENST00000392766.2	37	c.900	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021021	0.75275	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11712	2.93;2.93;2.92;2.92;2.75	5.86	5.86	0.93980	.	0.000000	0.34025	U	0.004322	T	0.28433	0.0703	M	0.61703	1.905	0.38539	D	0.94917	D;D	0.76494	0.999;0.999	D;P	0.68039	0.955;0.902	T	0.03423	-1.1038	10	0.66056	D	0.02	-12.8314	12.6425	0.56716	0.0:0.0:0.0:1.0	.	300;300	A8MT70-2;A8MT70	.;ZBBX_HUMAN	N	300;300;300;300;271	ENSP00000376519:K300N;ENSP00000376520:K300N;ENSP00000390232:K300N;ENSP00000305065:K300N;ENSP00000376517:K271N	ENSP00000305065:K300N	K	-	3	2	ZBBX	168522682	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	2.863000	0.48396	2.237000	0.73441	0.528000	0.53228	AAA	ZBBX	-	NULL	ENSG00000169064		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	-	0	67	0	T	NM_024687		167039988	-1	tier1	-	no_errors	ENST00000307529	ensembl	human	known	74_37	missense	47.22	38	34	SNP	1.000	A	A	167039988	T	A	167039988	3	1	61	1	0	0	0	0	1	0	0	0	17565	1838	64	5	1542	5	ZBBX	3	167039988	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	2315327	167039988	30982442	44	17323											
NLGN1	22871	genome.wustl.edu	37	chr3	173996812	173996812	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaagaagccttacaaaGaacttgttgaccaagatatt	17	10	7	7	0	0	5	0	1	0	4	0	5	0	5	2	0	4	1	2	0	8	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:173996812G>T	ENST00000457714.1	+	6	1450	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Nonsense_Mutation_p.E341*|NLGN1_ENST00000401917.3_Nonsense_Mutation_p.E381*|NLGN1_ENST00000361589.4_Nonsense_Mutation_p.E341*	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	358					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCCTTACAAAGAACTTGTTGA	0.418																																																	0													207	186	193					3																	173996812		2203	4300	6503	SO:0001587	stop_gained	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1021G>T	3.37:g.173996812G>T	ENSP00000392500:p.Glu341*		Q9UPT2	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E381*	ENST00000457714.1	37	c.1141	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187086	0.78789	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9765	0.97312	0.0:0.0:1.0:0.0	.	.	.	.	X	341;341;341;381	.	ENSP00000354541:E341X	E	+	1	0	NLGN1	175479506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.733000	0.93635	0.467000	0.42956	GAA	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.418	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	96	0	G	NM_014932		173996812	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	nonsense	45.68	44	37	SNP	1.000	T	T	173996812	G	T	173996812	4	4	61	1	0	0	0	0	0	1	0	0	10500	943	33	3	1035	3	NLGN1	3	173996812	Nonsense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	6956824	173996812	24025618	45	17324											
ATP13A5	344905	genome.wustl.edu	37	chr3	193051635	193051635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcatcgctgtatagtttGaagttcagaggccgggggta	10	10	15	6	2	1	2	1	1	0	1	2	2	1	2	1	4	0	6	1	4	5	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr3:193051635G>C	ENST00000342358.4	-	11	1293	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	392						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGTATAGTTTGAAGTTCAGAG	0.448																																																	0													104	101	102					3																	193051635		2203	4300	6503	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1176C>G	3.37:g.193051635G>C	ENSP00000341942:p.Phe392Leu		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.F392L	ENST00000342358.4	37	c.1176	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685581	0.88639	.	.	ENSG00000187527	ENST00000342358	D	0.90261	-2.64	5.53	4.65	0.58169	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000001	D	0.93249	0.7849	M	0.71871	2.18	0.46521	D	0.999083	P	0.49696	0.927	P	0.58620	0.842	D	0.93181	0.6574	10	0.59425	D	0.04	-17.9563	12.5221	0.56065	0.0809:0.0:0.9191:0.0	.	392	Q4VNC0	AT135_HUMAN	L	392	ENSP00000341942:F392L	ENSP00000341942:F392L	F	-	3	2	ATP13A5	194534329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.128000	0.57951	2.611000	0.88343	0.650000	0.86243	TTC	ATP13A5	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000187527		0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	-	0	65	0	G	NM_198505		193051635	-1	tier1	-	no_errors	ENST00000342358	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	C	C	193051635	G	C	193051635	3	2	61	1	0	0	0	0	1	0	0	0	1128	1281	45	5	2558	5	ATP13A5	3	193051635	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	19054823	193051635	4970795	46	17325											
STK32B	55351	genome.wustl.edu	37	chr4	5469797	5469797	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatattcaacagagagaAgtaagtccttcatactgtcc	14	11	6	10	0	3	2	3	0	0	2	5	3	5	2	2	0	2	1	2	0	5	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:5469797A>C	ENST00000282908.5	+	11	1528	c.1106A>C	c.(1105-1107)aAg>aCg	p.K369T	STK32B_ENST00000512636.1_Splice_Site_p.K292T|STK32B_ENST00000510398.1_Splice_Site_p.K322T|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AACAGAGAGAAGTAAGTCCTT	0.517																																																	0													137	132	134					4																	5469797		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.1106+1A>C	4.37:g.5469797A>C				Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K369T	ENST00000282908.5	37	c.1106	CCDS3380.1	4	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931975	0.52866	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.68903	-0.28;-0.02;-0.36	4.75	3.56	0.40772	.	0.000000	0.44688	U	0.000428	T	0.77512	0.4141	M	0.80616	2.505	0.53688	D	0.999979	D	0.64830	0.994	P	0.60173	0.87	T	0.77913	-0.2410	10	0.72032	D	0.01	.	9.2107	0.37318	0.9123:0.0:0.0877:0.0	.	369	Q9NY57	ST32B_HUMAN	T	369;292;322	ENSP00000282908:K369T;ENSP00000423209:K292T;ENSP00000420984:K322T	ENSP00000282908:K369T	K	+	2	0	STK32B	5520698	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.971000	0.63749	0.672000	0.31204	0.460000	0.39030	AAG	STK32B	-	NULL	ENSG00000152953		0.517	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4		0	27	0	A	NM_018401	Missense_Mutation	5469797	1			no_errors	ENST00000282908	ensembl	human	known	74_37	missense	15.38	33	6	SNP	1.000	C	C	5469797	A	C	5469797	5	2	61	1	0	0	0	0	0	0	1	0	15345	86	3	4	1148	4	STK32B	4	5469797	Splice_Site	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09		5469797	185684479	47	17326											
C4orf50	389197	genome.wustl.edu	37	chr4	5969167	5969167	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctgccgtcatctcagacTtgacgtccaggtggtggctt	7	11	12	11	2	2	2	2	1	1	1	4	2	3	2	2	3	2	2	2	3	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:5969167T>G	ENST00000324058.5	-	5	520	c.431A>C	c.(430-432)aAg>aCg	p.K144T	C4orf50_ENST00000531445.1_Missense_Mutation_p.K618T			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	144										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CATCTCAGACTTGACGTCCAG	0.512																																																	0													144	126	132					4																	5969167		2203	4300	6503	SO:0001583	missense	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.431A>C	4.37:g.5969167T>G	ENSP00000317287:p.Lys144Thr			Missense_Mutation	SNP	NULL	p.K618T	ENST00000324058.5	37	c.1853		4	.	.	.	.	.	.	.	.	.	.	T	3.806	-0.040746	0.07452	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.23754	1.89;1.89	2.99	-2.42	0.06542	.	1.305730	0.05264	N	0.516271	T	0.16769	0.0403	N	0.22421	0.69	0.09310	N	1	B	0.25169	0.119	B	0.19391	0.025	T	0.31998	-0.9923	10	0.45353	T	0.12	-1.0281	8.2578	0.31766	0.0:0.6278:0.0:0.3722	.	144	Q6ZRC1	CD050_HUMAN	T	618;144	ENSP00000437121:K618T;ENSP00000317287:K144T	ENSP00000317287:K144T	K	-	2	0	C4orf50	6020068	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.337000	0.07852	-0.543000	0.06240	0.533000	0.62120	AAG	C4orf50	-	NULL	ENSG00000181215		0.512	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		-	0	30	0	T	NM_207405		5969167	-1	tier1	-	no_errors	ENST00000531445	ensembl	human	known	74_37	missense	86.54	7	45	SNP	0.001	G	G	5969167	T	G	5969167	3	3	61	1	0	0	0	0	1	0	0	0	2283	1609	56	4	411	4	C4orf50	4	5969167	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	499370	5969167	185185109	48	17327											
NSUN7	79730	genome.wustl.edu	37	chr4	40792670	40792670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgaatcaaaggatcacaGgttacagaaagttaaagtga	18	9	9	5	0	2	3	2	2	0	1	2	4	2	4	0	2	1	2	0	2	6	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:40792670G>A	ENST00000381782.2	+	8	1583	c.1088G>A	c.(1087-1089)aGg>aAg	p.R363K	NSUN7_ENST00000316607.5_Missense_Mutation_p.R363K	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	363							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAGGATCACAGGTTACAGAAA	0.294																																																	0													73	79	77					4																	40792670		2203	4295	6498	SO:0001583	missense	0			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1088G>A	4.37:g.40792670G>A	ENSP00000371201:p.Arg363Lys		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.R363K	ENST00000381782.2	37	c.1088	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356460	0.82243	.	.	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.40756	1.02;1.02	5.86	5.86	0.93980	.	0.301301	0.33712	N	0.004626	T	0.42177	0.1191	L	0.34521	1.04	0.39092	D	0.961119	P;P	0.41978	0.767;0.566	P;B	0.49561	0.615;0.138	T	0.19160	-1.0314	10	0.27082	T	0.32	-18.653	12.9808	0.58562	0.0777:0.0:0.9223:0.0	.	363;363	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	K	363	ENSP00000371201:R363K;ENSP00000319127:R363K	ENSP00000319127:R363K	R	+	2	0	NSUN7	40487427	1.000000	0.71417	0.920000	0.36463	0.962000	0.63368	3.802000	0.55553	2.774000	0.95407	0.585000	0.79938	AGG	NSUN7	-	NULL	ENSG00000179299		0.294	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2	-	0	52	0	G	NM_024677		40792670	1	tier1	-	no_errors	ENST00000381782	ensembl	human	known	74_37	missense	15.00	50	9	SNP	0.985	A	A	40792670	G	A	40792670	3	1	61	1	0	0	0	0	1	0	0	0	10722	1000	35	3	1114	3	NSUN7	4	40792670	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	34823503	40792670	150361606	49	17328											
SLC30A9	10463	genome.wustl.edu	37	chr4	42080286	42080286	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatgcttaaacatggaGaaaatattattgatacttta	15	16	5	5	0	0	2	0	1	0	1	0	3	0	2	1	1	3	1	1	1	9	9			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:42080286G>T	ENST00000264451.7	+	17	1786	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	536					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E536*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAACATGGAGAAAATATTAT	0.284																																																	1	Substitution - Nonsense(1)	large_intestine(1)											53	59	57					4																	42080286		2201	4298	6499	SO:0001587	stop_gained	0			AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"Solute carriers"	1329	protein-coding gene	gene with protein product	"GRIP1-dependent nuclear receptor coactivator"	604604	"chromosome 4 open reading frame 1"	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1606G>T	4.37:g.42080286G>T	ENSP00000264451:p.Glu536*		Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Nonsense_Mutation	SNP	pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux	p.E536*	ENST00000264451.7	37	c.1606	CCDS3465.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.594098	0.98378	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.428	19.8737	0.96861	0.0:0.0:1.0:0.0	.	.	.	.	X	536;364	.	ENSP00000264451:E536X	E	+	1	0	SLC30A9	41775043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.185000	0.94900	2.693000	0.91896	0.650000	0.86243	GAA	SLC30A9	-	NULL	ENSG00000014824		0.284	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A9	HGNC	protein_coding	OTTHUMT00000216842.3	-	0	44	0	G			42080286	1	tier1	-	no_errors	ENST00000264451	ensembl	human	known	74_37	nonsense	23.44	49	15	SNP	1.000	T	T	42080286	G	T	42080286	4	4	61	1	0	0	0	0	0	1	0	0	14607	943	33	3	1672	3	SLC30A9	4	42080286	Nonsense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	1287616	42080286	149073990	50	17329											
ATP8A1	10396	genome.wustl.edu	37	chr4	42509113	42509113	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattagcgtttctatggttTcaggcacttgatcttgtaat	8	18	8	7	1	4	1	2	1	2	0	4	1	4	1	0	2	1	4	0	2	3	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:42509113T>G	ENST00000381668.5	-	23	2237	c.2006A>C	c.(2005-2007)gAa>gCa	p.E669A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E654A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	669					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTCTATGGTTTCAGGCACTTG	0.373																																																	0													186	175	178					4																	42509113		2203	4300	6503	SO:0001583	missense	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2006A>C	4.37:g.42509113T>G	ENSP00000371084:p.Glu669Ala		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E669A	ENST00000381668.5	37	c.2006	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	T	26.5	4.747997	0.89663	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.93659	-3.26;-3.26	6.03	6.03	0.97812	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97161	0.9072	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.77004	0.958;0.989	D	0.97553	1.0093	10	0.59425	D	0.04	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	654;669	Q32M35;Q9Y2Q0	.;AT8A1_HUMAN	A	669;654	ENSP00000371084:E669A;ENSP00000264449:E654A	ENSP00000264449:E654A	E	-	2	0	ATP8A1	42203870	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.649000	0.83500	2.313000	0.78055	0.454000	0.30748	GAA	ATP8A1	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.373	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	115	0	T	NM_006095		42509113	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	13.33	117	18	SNP	1.000	G	G	42509113	T	G	42509113	3	3	61	1	0	0	0	0	1	0	0	0	1193	1783	62	4	1548	4	ATP8A1	4	42509113	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	428827	42509113	148645163	51	17330											
AMBN	258	genome.wustl.edu	37	chr4	71472353	71472353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaaccatggataccaCgatggccccaaactctctgc	13	6	8	14	1	1	1	0	0	1	1	2	3	1	2	4	2	5	1	4	2	4	1	rs146171297		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:71472353C>T	ENST00000322937.6	+	13	1353	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	AMBN_ENST00000449493.2_Missense_Mutation_p.T402M	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	417					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ATGGATACCACGATGGCCCCA	0.517													C|||	1	0.000199681	0	0	5008	,	,		19579	0		0	False		,,,				2504	0.001																0								C	MET/THR	0,4406		0,0,2203	62	66	65		1250	5.8	0.9	4	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	AMBN	NM_016519.5	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	417/448	71472353	1,13005	2203	4300	6503	SO:0001583	missense	0			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1250C>T	4.37:g.71472353C>T	ENSP00000313809:p.Thr417Met		Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	pfam_Amelin,smart_Amelin	p.T417M	ENST00000322937.6	37	c.1250	CCDS3543.1	4	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163914	0.38217	0.0	1.16E-4	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.40225	1.04;1.04	5.76	5.76	0.90799	.	0.163302	0.42964	D	0.000621	T	0.65302	0.2678	M	0.75777	2.31	0.43326	D	0.995358	D	0.89917	1.0	D	0.97110	1.0	T	0.67681	-0.5608	10	0.87932	D	0	-7.8248	15.4698	0.75432	0.0:1.0:0.0:0.0	.	417	Q9NP70	AMBN_HUMAN	M	417;416;402	ENSP00000313809:T417M;ENSP00000391234:T402M	ENSP00000313809:T417M	T	+	2	0	AMBN	71506942	0.992000	0.36948	0.896000	0.35187	0.004000	0.04260	3.995000	0.57001	2.726000	0.93360	0.563000	0.77884	ACG	AMBN	-	pfam_Amelin,smart_Amelin	ENSG00000178522		0.517	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	-	0	49	0	C	NM_016519		71472353	1	tier1	rs146171297	no_errors	ENST00000322937	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.966	T	T	71472353	C	T	71472353	3	4	61	1	0	0	0	0	1	0	0	0	563	536	19	1	1300	1	AMBN	4	71472353	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	28963240	71472353	119681923	52	17331											
SEPT11	55752	genome.wustl.edu	37	chr4	77926840	77926840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctactcacaatgaaccaGgtgttcggttaaaagccaga	14	8	9	10	1	1	2	1	1	0	1	2	2	1	2	2	2	4	3	2	2	5	3	rs368053703		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:77926840G>A	ENST00000264893.6	+	3	430	c.229G>A	c.(229-231)Ggt>Agt	p.G77S	SEPT11_ENST00000510515.1_Missense_Mutation_p.G87S|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000541121.1_Missense_Mutation_p.G87S|SEPT11_ENST00000502584.1_Missense_Mutation_p.G77S|SEPT11_ENST00000505788.1_Missense_Mutation_p.G77S	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	77	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						CAATGAACCAGGTGTTCGGTT	0.423																																																	0								G	SER/GLY	0,4406		0,0,2203	144	138	140		229	5.4	1	4		140	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEPT11	NM_018243.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	77/430	77926840	1,13005	2203	4300	6503	SO:0001583	missense	0			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"Septins"	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.229G>A	4.37:g.77926840G>A	ENSP00000264893:p.Gly77Ser		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.G87S	ENST00000264893.6	37	c.259	CCDS34018.1	4	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190846	0.58017	0.0	1.16E-4	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000504637;ENST00000512778;ENST00000541121	T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.38	5.38	0.77491	.	0.075253	0.56097	D	0.000031	T	0.42223	0.1193	L	0.37697	1.125	0.54753	D	0.999983	B;B	0.17038	0.013;0.02	B;B	0.18871	0.008;0.023	T	0.17137	-1.0379	10	0.30078	T	0.28	.	19.1464	0.93471	0.0:0.0:1.0:0.0	.	87;77	Q9NVA2-2;Q9NVA2	.;SEP11_HUMAN	S	77;77;69;77;87;87;87;87	ENSP00000264893:G77S;ENSP00000426344:G77S;ENSP00000420839:G69S;ENSP00000424925:G77S;ENSP00000422896:G87S;ENSP00000425262:G87S;ENSP00000422047:G87S;ENSP00000443701:G87S	ENSP00000264893:G77S	G	+	1	0	SEPT11	78145864	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.471000	0.97696	2.494000	0.84150	0.557000	0.71058	GGT	SEPT11	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000138758		0.423	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEPT11	HGNC	protein_coding	OTTHUMT00000362676.1	-	0	40	0	G	NM_018243		77926840	1	tier1	-	no_errors	ENST00000541121	ensembl	human	known	74_37	missense	58.33	24	35	SNP	1.000	A	A	77926840	G	A	77926840	3	1	61	1	0	0	0	0	1	0	0	0	14106	1000	35	3	239	3	SEPT11	4	77926840	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	6454487	77926840	113227436	53	17332											
PPP3CA	5530	genome.wustl.edu	37	chr4	102004363	102004363	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcatcttgggcttcgtgGgctcggagtatagataacaa	9	11	12	9	2	1	1	0	0	1	1	3	2	1	2	1	3	2	4	1	3	4	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:102004363G>T	ENST00000394854.3	-	7	1523	c.840C>A	c.(838-840)gcC>gcA	p.A280A	PPP3CA_ENST00000323055.6_Silent_p.A280A|PPP3CA_ENST00000394853.4_Silent_p.A280A|PPP3CA_ENST00000523694.2_Silent_p.A213A|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Silent_p.A182A	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	280	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)	p.A280A(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GGGCTTCGTGGGCTCGGAGTA	0.433																																																	1	Substitution - coding silent(1)	ovary(1)											274	286	282					4																	102004363		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9314	protein-coding gene	gene with protein product	"calcineurin A alpha", "protein phosphatase 2B, catalytic subunit, alpha isoform"	114105	"protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)", "protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.840C>A	4.37:g.102004363G>T			A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.A280	ENST00000394854.3	37	c.840	CCDS34037.1	4																																																																																			PPP3CA	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000138814		0.433	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2		0	48	0	G	NM_000944		102004363	-1			no_errors	ENST00000394854	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	T	T	102004363	G	T	102004363	2	4	61	1	0	0	0	0	0	0	0	1	12439	1219	43	3		3	PPP3CA	4	102004363	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	24077523	102004363	89149913	54	17333											
COL25A1	84570	genome.wustl.edu	37	chr4	109810879	109810879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taattcctgcagcagatgatCcagggtcaccctaaaacgaa	14	8	8	11	1	1	2	1	1	0	1	3	3	3	2	3	1	3	2	3	1	4	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:109810879C>A	ENST00000399132.1	-	17	1447	c.917G>T	c.(916-918)gGa>gTa	p.G306V	COL25A1_ENST00000399127.1_Missense_Mutation_p.G302V|COL25A1_ENST00000399126.1_Missense_Mutation_p.G306V	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGCAGATGATCCAGGGTCACC	0.423																																																	0													98	95	96					4																	109810879		1905	4138	6043	SO:0001583	missense	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.917G>T	4.37:g.109810879C>A	ENSP00000382083:p.Gly306Val			Missense_Mutation	SNP	pfam_Collagen	p.G306V	ENST00000399132.1	37	c.917	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214715	0.58452	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.99637	-6.29;-5.53;-6.29	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	D	0.99750	0.9900	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97639	1.0147	9	.	.	.	-5.9611	18.9387	0.92597	0.0:1.0:0.0:0.0	.	306;306	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	V	306;308;302;302;306;236	ENSP00000382083:G306V;ENSP00000382078:G302V;ENSP00000382077:G306V	.	G	-	2	0	COL25A1	110030328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.866000	0.63005	2.817000	0.96982	0.557000	0.71058	GGA	COL25A1	-	NULL	ENSG00000188517		0.423	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2		0	45	0	C	NM_032518		109810879	-1			no_errors	ENST00000399132	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	109810879	C	A	109810879	3	1	61	1	0	0	0	0	1	0	0	0	3691	855	30	3	1219	3	COL25A1	4	109810879	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	7806516	109810879	81343397	55	17334											
NDST4	64579	genome.wustl.edu	37	chr4	115997687	115997687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacttggtaagctgttcTcattggctttatgaaaaccg	9	15	10	7	1	1	1	1	1	1	0	2	1	1	1	1	2	3	5	1	2	5	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:115997687T>C	ENST00000264363.2	-	2	1184	c.506A>G	c.(505-507)gAg>gGg	p.E169G		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	169	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAAGCTGTTCTCATTGGCTTT	0.363																																																	0													71	72	72					4																	115997687		2203	4300	6503	SO:0001583	missense	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.506A>G	4.37:g.115997687T>C	ENSP00000264363:p.Glu169Gly		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.E169G	ENST00000264363.2	37	c.506	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041771	0.75732	.	.	ENSG00000138653	ENST00000264363	T	0.40756	1.02	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	M	0.90759	3.145	0.80722	D	1	D	0.56521	0.976	P	0.62298	0.9	T	0.76586	-0.2905	10	0.72032	D	0.01	.	15.1781	0.72931	0.0:0.0:0.0:1.0	.	169	Q9H3R1	NDST4_HUMAN	G	169	ENSP00000264363:E169G	ENSP00000264363:E169G	E	-	2	0	NDST4	116217136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.988000	0.88194	1.974000	0.57490	0.482000	0.46254	GAG	NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.363	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0	51	0	T	NM_022569		115997687	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	53.66	19	22	SNP	1.000	C	C	115997687	T	C	115997687	3	2	61	1	0	0	0	0	1	0	0	0	10297	1551	54	4	2164	4	NDST4	4	115997687	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	6186808	115997687	75156589	56	17335											
NAA15	80155	genome.wustl.edu	37	chr4	140297560	140297560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctattaaatttttaacaccGttgaagaacttggtgaagaa	15	13	8	5	1	0	4	0	2	0	2	0	4	0	4	1	1	2	2	1	1	8	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:140297560G>A	ENST00000296543.5	+	16	2312	c.1989G>A	c.(1987-1989)ccG>ccA	p.P663P	NAA15_ENST00000398947.1_Silent_p.P663P	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	663	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTTAACACCGTTGAAGAACT	0.338																																																	0													107	100	102					4																	140297560		1816	4075	5891	SO:0001819	synonymous_variant	0			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1989G>A	4.37:g.140297560G>A			D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P663	ENST00000296543.5	37	c.1989	CCDS43270.1	4																																																																																			NAA15	-	pfam_NatA_aux_su,pirsf_NatA_aux_su	ENSG00000164134		0.338	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	-	0	36	0	G	NM_057175		140297560	1	tier1	-	no_errors	ENST00000296543	ensembl	human	known	74_37	silent	36.67	19	11	SNP	0.130	A	A	140297560	G	A	140297560	2	1	61	1	0	0	0	0	0	0	0	1	10156	1132	40	1		1	NAA15	4	140297560	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	24299873	140297560	50856716	57	17336											
RNF150	57484	genome.wustl.edu	37	chr4	142053867	142053867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcctccttctcggccacGgtaaagtccaggcagagcag	9	8	10	14	2	1	1	0	0	1	1	5	1	4	1	4	3	1	3	4	3	2	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:142053867G>A	ENST00000515673.2	-	1	129	c.96C>T	c.(94-96)acC>acT	p.T32T	RNF150_ENST00000306799.3_Silent_p.T32T|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Silent_p.T32T			Q9ULK6	RN150_HUMAN	ring finger protein 150	32						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCTCGGCCACGGTAAAGTCCA	0.632																																																	0													77	63	68					4																	142053867		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"RING-type (C3HC4) zinc fingers"	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.96C>T	4.37:g.142053867G>A			Q3T1D0|Q6ZNW6	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T32	ENST00000515673.2	37	c.96	CCDS34065.1	4																																																																																			RNF150	-	NULL	ENSG00000170153		0.632	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF150	HGNC	protein_coding	OTTHUMT00000364739.2	-	0	11	0	G	XM_291090		142053867	-1	tier1	-	no_errors	ENST00000515673	ensembl	human	known	74_37	silent	38.10	13	8	SNP	0.959	A	A	142053867	G	A	142053867	2	1	61	1	0	0	0	0	0	0	0	1	13496	1103	39	1		1	RNF150	4	142053867	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	1756307	142053867	49100409	58	17337											
POU4F2	5458	genome.wustl.edu	37	chr4	147561598	147561598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccaacctcaagatccccGgcgtgggctcgcttagccag	7	7	12	15	3	1	1	1	0	0	1	3	1	2	1	5	3	2	2	5	3	3	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:147561598G>A	ENST00000281321.3	+	2	1116	c.868G>A	c.(868-870)Ggc>Agc	p.G290S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	290	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CAAGATCCCCGGCGTGGGCTC	0.617																																																	0													51	53	52					4																	147561598		2203	4300	6503	SO:0001583	missense	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.868G>A	4.37:g.147561598G>A	ENSP00000281321:p.Gly290Ser		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.G290S	ENST00000281321.3	37	c.868	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102192	0.76983	.	.	ENSG00000151615	ENST00000281321	D	0.82803	-1.65	5.37	5.37	0.77165	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.92805	0.7712	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93859	0.7152	10	0.87932	D	0	.	19.1135	0.93328	0.0:0.0:1.0:0.0	.	290	Q12837	PO4F2_HUMAN	S	290	ENSP00000281321:G290S	ENSP00000281321:G290S	G	+	1	0	POU4F2	147781048	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.841000	0.99482	2.528000	0.85240	0.561000	0.74099	GGC	POU4F2	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific	ENSG00000151615		0.617	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1	-	0	59	0	G	NM_004575		147561598	1	tier1	-	no_errors	ENST00000281321	ensembl	human	known	74_37	missense	38.81	41	26	SNP	1.000	A	A	147561598	G	A	147561598	3	1	61	1	0	0	0	0	1	0	0	0	12318	1116	39	1	874	1	POU4F2	4	147561598	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	5507731	147561598	43592678	59	17338											
TLL1	7092	genome.wustl.edu	37	chr4	166795097	166795097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggatgctcgtgtggcTggtggcctcggggattgttt	3	12	17	9	3	0	0	0	0	0	0	2	3	0	2	2	6	1	3	2	6	0	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:166795097T>C	ENST00000061240.2	+	1	688	c.41T>C	c.(40-42)cTg>cCg	p.L14P	TLL1_ENST00000507499.1_Missense_Mutation_p.L14P|TLL1_ENST00000513213.1_Missense_Mutation_p.L14P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	14					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTCGTGTGGCTGGTGGCCTCG	0.587																																																	0													155	158	157					4																	166795097		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.41T>C	4.37:g.166795097T>C	ENSP00000061240:p.Leu14Pro		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.L14P	ENST00000061240.2	37	c.41	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461613	0.43736	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.51071	0.72;0.72;0.72	4.29	4.29	0.51040	.	0.000000	0.56097	U	0.000030	T	0.53465	0.1798	L	0.52573	1.65	0.80722	D	1	D;P	0.55172	0.97;0.948	P;P	0.54499	0.754;0.754	T	0.57636	-0.7777	10	0.87932	D	0	.	11.1509	0.48458	0.0:0.0:0.0:1.0	.	14;14	E9PD25;O43897	.;TLL1_HUMAN	P	14	ENSP00000061240:L14P;ENSP00000426082:L14P;ENSP00000422937:L14P	ENSP00000061240:L14P	L	+	2	0	TLL1	167014547	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	5.198000	0.65147	1.550000	0.49438	0.379000	0.24179	CTG	TLL1	-	pirsf_BMP_1/tolloid-like	ENSG00000038295		0.587	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	71	0	T			166795097	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	28.26	66	26	SNP	1.000	C	C	166795097	T	C	166795097	3	2	61	1	0	0	0	0	1	0	0	0	15992	1580	55	4	43	4	TLL1	4	166795097	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	19233499	166795097	24359179	60	17339											
WDR17	116966	genome.wustl.edu	37	chr4	177094487	177094487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctactgagctatattcGtactgaaaaattactcttgc	12	14	6	9	1	1	3	0	3	1	0	2	3	1	3	1	0	5	2	1	0	7	7	rs201308930		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:177094487G>T	ENST00000280190.4	+	27	3587	c.3431G>T	c.(3430-3432)cGt>cTt	p.R1144L	WDR17_ENST00000393643.2_Missense_Mutation_p.R1120L|WDR17_ENST00000507824.2_Missense_Mutation_p.R1119L|WDR17_ENST00000508596.1_Missense_Mutation_p.R1105L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTATATTCGTACTGAAAAA	0.333																																																	0													89	84	86					4																	177094487		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3431G>T	4.37:g.177094487G>T	ENSP00000280190:p.Arg1144Leu		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R1144L	ENST00000280190.4	37	c.3431	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210385	0.79240	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.60299	0.22;0.26;0.2	5.58	4.74	0.60224	.	0.217098	0.38837	N	0.001557	T	0.64757	0.2627	M	0.71581	2.175	0.58432	D	0.999998	P;P;P	0.50710	0.938;0.895;0.895	P;B;B	0.48454	0.578;0.343;0.343	T	0.70278	-0.4916	10	0.72032	D	0.01	-6.1945	14.4419	0.67323	0.0713:0.0:0.9287:0.0	.	1120;1105;1144	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	L	1105;1120;1144;1120	ENSP00000422763:R1105L;ENSP00000377258:R1120L;ENSP00000280190:R1144L	ENSP00000280190:R1144L	R	+	2	0	WDR17	177331481	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.862000	0.69560	1.359000	0.45940	0.585000	0.79938	CGT	WDR17	-	NULL	ENSG00000150627		0.333	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	75	0	G			177094487	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	T	T	177094487	G	T	177094487	3	4	61	1	0	0	0	0	1	0	0	0	17326	1145	40	2	3533	2	WDR17	4	177094487	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	10299390	177094487	14059789	61	17340											
SLC25A4	291	genome.wustl.edu	37	chr4	186066045	186066045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacctggccaacgtgatccGttacttccccacccaagctc	9	9	6	17	2	0	1	0	1	0	0	3	1	2	1	6	1	4	2	6	1	4	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:186066045G>A	ENST00000281456.6	+	2	371	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	80					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	AACGTGATCCGTTACTTCCCC	0.522																																																	0													159	154	156					4																	186066045		2203	4300	6503	SO:0001583	missense	0			BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"Solute carriers"	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.239G>A	4.37:g.186066045G>A	ENSP00000281456:p.Arg80His		D3DP59	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling	p.R80H	ENST00000281456.6	37	c.239	CCDS34114.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.214622	0.95104	.	.	ENSG00000151729	ENST00000281456	D	0.81659	-1.52	5.37	5.37	0.77165	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	H	0.95437	3.67	0.80722	D	1	D	0.54397	0.966	P	0.46339	0.513	D	0.92406	0.5933	10	0.87932	D	0	1.2813	19.3071	0.94167	0.0:0.0:1.0:0.0	.	80	P12235	ADT1_HUMAN	H	80	ENSP00000281456:R80H	ENSP00000281456:R80H	R	+	2	0	SLC25A4	186303039	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	9.657000	0.98554	2.793000	0.96121	0.563000	0.77884	CGT	SLC25A4	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000151729		0.522	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A4	HGNC	protein_coding	OTTHUMT00000259170.3	-	0	40	0	G	NM_001151		186066045	1	tier1	-	no_errors	ENST00000281456	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A	A	186066045	G	A	186066045	3	1	61	1	0	0	0	0	1	0	0	0	14549	1145	40	1	245	1	SLC25A4	4	186066045	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	8971558	186066045	5088231	62	17341											
SORBS2	8470	genome.wustl.edu	37	chr4	186532968	186532968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgtgaatcctatcactaGaatagctgtggggtattgga	11	12	12	6	0	1	2	1	1	0	1	2	3	2	3	1	3	2	3	1	3	6	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr4:186532968G>A	ENST00000284776.7	-	18	3559	c.3050C>T	c.(3049-3051)tCt>tTt	p.S1017F	SORBS2_ENST00000449407.2_Missense_Mutation_p.S561F|SORBS2_ENST00000437304.2_Missense_Mutation_p.S741F|SORBS2_ENST00000355634.5_Missense_Mutation_p.S1117F|SORBS2_ENST00000448662.2_Missense_Mutation_p.S578F|SORBS2_ENST00000393528.3_Missense_Mutation_p.S583F|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000431808.1_Missense_Mutation_p.S1017F|SORBS2_ENST00000319471.9_Missense_Mutation_p.S648F|SORBS2_ENST00000418609.1_Missense_Mutation_p.S921F	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1017					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCTATCACTAGAATAGCTGTG	0.428																																					Esophageal Squamous(153;41 2433 9491 36028)												0													204	189	194					4																	186532968		2203	4300	6503	SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3050C>T	4.37:g.186532968G>A	ENSP00000284776:p.Ser1017Phe		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.S1017F	ENST00000284776.7	37	c.3050	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	G	19.02	3.745447	0.69418	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454	T;T;T;T;T;T;T;T;T;T	0.37584	1.3;1.49;1.3;1.19;1.49;1.49;1.49;1.29;1.49;1.49	5.46	5.46	0.80206	Src homology-3 domain (1);	0.191025	0.46442	D	0.000290	T	0.49457	0.1558	N	0.24115	0.695	0.54753	D	0.999985	D;D;D;D;D;D;D;D;D;D;P;P;D;D	0.76494	0.998;0.997;0.999;0.997;0.998;0.999;0.999;0.999;0.994;0.996;0.935;0.533;0.998;0.998	D;D;D;D;D;D;D;D;P;P;P;B;D;D	0.85130	0.992;0.972;0.996;0.988;0.992;0.997;0.993;0.993;0.795;0.823;0.746;0.242;0.992;0.992	T	0.52403	-0.8580	10	0.87932	D	0	-14.0269	19.5125	0.95148	0.0:0.0:1.0:0.0	.	583;578;921;409;466;608;1117;1017;561;741;578;608;562;583	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	F	1017;578;1017;921;741;648;561;1117;583;608	ENSP00000284776:S1017F;ENSP00000409158:S578F;ENSP00000411764:S1017F;ENSP00000397482:S921F;ENSP00000396008:S741F;ENSP00000322182:S648F;ENSP00000397262:S561F;ENSP00000347852:S1117F;ENSP00000377162:S583F;ENSP00000321983:S608F	ENSP00000284776:S1017F	S	-	2	0	SORBS2	186769962	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	5.608000	0.67654	2.840000	0.97914	0.655000	0.94253	TCT	SORBS2	-	superfamily_SH3_domain	ENSG00000154556		0.428	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	-	0	160	0	G	NM_003603		186532968	-1	tier1	-	no_errors	ENST00000284776	ensembl	human	known	74_37	missense	57.35	28	39	SNP	1.000	A	A	186532968	G	A	186532968	3	1	61	1	0	0	0	0	1	0	0	0	14973	942	33	3	268	3	SORBS2	4	186532968	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	466923	186532968	4621308	63	17342											
FBXL7	23194	genome.wustl.edu	37	chr5	15936744	15936744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctacctgcgccgctgcGtccgcctgaccgacgaaggc	6	6	11	18	6	1	1	0	1	1	0	2	3	2	1	6	1	3	1	6	1	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr5:15936744G>A	ENST00000504595.1	+	4	1406	c.925G>A	c.(925-927)Gtc>Atc	p.V309I	FBXL7_ENST00000510662.1_Missense_Mutation_p.V262I|FBXL7_ENST00000329673.7_Missense_Mutation_p.V297I|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	309					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.V309I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCGCCGCTGCGTCCGCCTGAC	0.652																																																	1	Substitution - Missense(1)	large_intestine(1)											39	43	41					5																	15936744		2188	4285	6473	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.925G>A	5.37:g.15936744G>A	ENSP00000423630:p.Val309Ile		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.V309I	ENST00000504595.1	37	c.925	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	G	2.691	-0.273254	0.05716	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.02395	4.31;4.38;4.31	5.16	5.16	0.70880	.	0.380499	0.30269	N	0.010002	T	0.01905	0.0060	N	0.11255	0.115	0.31291	N	0.689393	B	0.06786	0.001	B	0.08055	0.003	T	0.26883	-1.0090	10	0.30078	T	0.28	.	9.4235	0.38565	0.1583:0.0:0.8417:0.0	.	309	Q9UJT9	FBXL7_HUMAN	I	309;262;297	ENSP00000423630:V309I;ENSP00000425184:V262I;ENSP00000329632:V297I	ENSP00000329632:V297I	V	+	1	0	FBXL7	15989744	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.164000	0.42387	2.414000	0.81942	0.655000	0.94253	GTC	FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000183580		0.652	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	-	0	49	0	G	NM_012304		15936744	1	tier1	-	no_errors	ENST00000504595	ensembl	human	known	74_37	missense	81.36	11	48	SNP	0.997	A	A	15936744	G	A	15936744	3	1	61	1	0	0	0	0	1	0	0	0	5746	1145	40	1	939	1	FBXL7	5	15936744	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		15936744	164978516	64	17343											
HTR1A	3350	genome.wustl.edu	37	chr5	63256592	63256592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcctctcgaaagaggCgggggcacaaggggtaggac	10	8	15	8	2	1	1	0	0	1	1	3	3	2	2	1	6	0	2	1	6	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr5:63256592C>T	ENST00000323865.3	-	1	1188	c.955G>A	c.(955-957)Gcc>Acc	p.A319T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	319					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCGAAAGAGGCGGGGGCACAA	0.632																																																	0													46	49	48					5																	63256592		2203	4300	6503	SO:0001583	missense	0			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5286	protein-coding gene	gene with protein product		109760	"5-hydroxytryptamine (serotonin) receptor 1A"	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.955G>A	5.37:g.63256592C>T	ENSP00000316244:p.Ala319Thr		Q6LAE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt	p.A319T	ENST00000323865.3	37	c.955	CCDS34168.1	5	.	.	.	.	.	.	.	.	.	.	C	5.148	0.212921	0.09757	.	.	ENSG00000178394	ENST00000323865	T	0.62788	0.0	5.7	-1.84	0.07809	GPCR, rhodopsin-like superfamily (1);	1.160630	0.06370	N	0.713439	T	0.36635	0.0974	N	0.20807	0.61	0.09310	N	0.999995	B	0.02656	0.0	B	0.08055	0.003	T	0.13656	-1.0501	10	0.10636	T	0.68	.	0.9262	0.01325	0.2312:0.318:0.1152:0.3356	.	319	P08908	5HT1A_HUMAN	T	319	ENSP00000316244:A319T	ENSP00000316244:A319T	A	-	1	0	HTR1A	63292348	0.000000	0.05858	0.041000	0.18516	0.451000	0.32288	-0.887000	0.04152	-0.257000	0.09459	-0.274000	0.10170	GCC	HTR1A	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt	ENSG00000178394		0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1A	HGNC	protein_coding	OTTHUMT00000368397.1	-	0	20	0	C	NM_000524		63256592	-1	tier1	-	no_errors	ENST00000323865	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.002	T	T	63256592	C	T	63256592	3	4	61	1	0	0	0	0	1	0	0	0	7463	768	27	1	316	1	HTR1A	5	63256592	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	47319848	63256592	117658668	65	17344											
AP3B1	8546	genome.wustl.edu	37	chr5	77477450	77477450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctgatcatcatcagattCgtagaaattctttccattgt	10	17	5	9	1	5	3	3	1	2	2	7	3	6	3	1	0	0	1	1	0	2	6	rs140209190		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr5:77477450C>T	ENST00000255194.6	-	8	998	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	AP3B1_ENST00000519295.1_Missense_Mutation_p.E226K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	275					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCATCAGATTCGTAGAAATTC	0.343									Hermansky-Pudlak syndrome																																								0								C	LYS/GLU	0,4406		0,0,2203	109	107	108		823	5.9	1	5	dbSNP_134	108	1,8597	1.2+/-3.3	0,1,4298	no	missense	AP3B1	NM_003664.3	56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	275/1095	77477450	1,13003	2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.823G>A	5.37:g.77477450C>T	ENSP00000255194:p.Glu275Lys		E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.E275K	ENST00000255194.6	37	c.823	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684973	0.88639	0.0	1.16E-4	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.56611	0.45;0.46	5.92	5.92	0.95590	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-type fold (1);	0.280783	0.44688	D	0.000436	T	0.61375	0.2342	L	0.54323	1.7	0.58432	D	0.999998	D	0.57257	0.979	P	0.50791	0.65	T	0.58171	-0.7683	10	0.41790	T	0.15	-4.7293	20.3172	0.98658	0.0:1.0:0.0:0.0	.	275	O00203	AP3B1_HUMAN	K	275;226;275;179	ENSP00000255194:E275K;ENSP00000430597:E226K	ENSP00000255194:E275K	E	-	1	0	AP3B1	77513206	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.756000	0.68757	2.801000	0.96364	0.650000	0.86243	GAA	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000132842		0.343	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	-	0	53	0	C			77477450	-1	tier1	rs140209190	no_errors	ENST00000255194	ensembl	human	known	74_37	missense	71.43	10	25	SNP	1.000	T	T	77477450	C	T	77477450	3	4	61	1	0	0	0	0	1	0	0	0	744	893	31	1	2541	1	AP3B1	5	77477450	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	14220858	77477450	103437810	66	17345											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129015552	129015552	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactaccgttcattatgtaAgacgaggcctctgggagaag	12	9	12	8	2	2	2	1	0	1	2	2	5	2	2	2	2	2	2	2	2	5	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr5:129015552A>T	ENST00000274487.4	+	17	2729	c.2584A>T	c.(2584-2586)Aga>Tga	p.R862*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	862	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCATTATGTAAGACGAGGCCT	0.433																																																	0													102	100	101					5																	129015552		2203	4300	6503	SO:0001587	stop_gained	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2584A>T	5.37:g.129015552A>T	ENSP00000274487:p.Arg862*			Nonsense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R862*	ENST00000274487.4	37	c.2584	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	40	8.503256	0.98838	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.54	3.41	0.39046	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9926	0.53184	0.5558:0.4442:0.0:0.0	.	.	.	.	X	862	.	.	R	+	1	2	ADAMTS19	129043451	0.994000	0.37717	0.981000	0.43875	0.962000	0.63368	2.401000	0.44513	1.085000	0.41206	0.528000	0.53228	AGA	ADAMTS19	-	pfam_ADAM_spacer1	ENSG00000145808		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	49	0	A	NM_133638		129015552	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	nonsense	65.12	15	28	SNP	0.998	T	T	129015552	A	T	129015552	4	4	61	1	0	0	0	0	0	1	0	0	264	64	3	5	2650	5	ADAMTS19	5	129015552	Nonsense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	51538102	129015552	51899708	67	17346											
PCDHA4	56144	genome.wustl.edu	37	chr5	140188585	140188585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgactcgggctacaacGcgtggctttcgtacgagctg	7	10	13	11	5	0	1	0	1	0	0	2	2	0	1	0	2	5	5	0	2	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr5:140188585G>A	ENST00000530339.1	+	1	1813	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A605T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A605T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	605	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTACAACGCGTGGCTTTC	0.677																																																	0													119	109	113					5																	140188585		2203	4299	6502	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1813G>A	5.37:g.140188585G>A	ENSP00000435300:p.Ala605Thr		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A605T	ENST00000530339.1	37	c.1813	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	g	21.3	4.135947	0.77662	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.40225	1.04;1.04;1.04	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.192677	0.24838	U	0.035189	T	0.74749	0.3757	H	0.95294	3.65	0.31192	N	0.700837	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.996;0.999	T	0.82585	-0.0384	10	0.87932	D	0	.	16.6588	0.85236	0.0:0.0:1.0:0.0	.	605;605;605	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	T	605	ENSP00000423470:A605T;ENSP00000349344:A605T;ENSP00000435300:A605T	ENSP00000349344:A605T	A	+	1	0	PCDHA4	140168769	0.938000	0.31826	1.000000	0.80357	0.855000	0.48748	3.001000	0.49488	2.006000	0.58801	0.484000	0.47621	GCG	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0	112	0	G	NM_018907		140188585	1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	71.93	31	82	SNP	1.000	A	A	140188585	G	A	140188585	3	1	61	1	0	0	0	0	1	0	0	0	11565	1087	38	1	1815	1	PCDHA4	5	140188585	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	11173033	140188585	40726675	68	17347											
PCDHA12	56137	genome.wustl.edu	37	chr5	140257124	140257124	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgggcgctgtggatccCgaagcggctctggtggatat	6	10	16	9	3	2	0	1	0	1	0	3	3	3	2	1	5	1	2	1	5	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr5:140257124C>T	ENST00000398631.2	+	1	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	689					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGATCCCGAAGCGGCTC	0.647																																					Pancreas(113;759 1672 13322 24104 50104)												0													38	42	41					5																	140257124		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2067C>T	5.37:g.140257124C>T			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P689	ENST00000398631.2	37	c.2067	CCDS47285.1	5																																																																																			PCDHA12	-	NULL	ENSG00000251664		0.647	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	66	0	C	NM_018903		140257124	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	38.71	38	24	SNP	0.000	T	T	140257124	C	T	140257124	2	4	61	1	0	0	0	0	0	0	0	1	11561	639	23	1		1	PCDHA12	5	140257124	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	68539	140257124	40658136	69	17348											
GABBR1	2550	genome.wustl.edu	37	chr6	29581140	29581140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctcctccagatgtcttGttcagggccagtgccaaggc	6	9	11	15	1	2	1	1	0	1	1	4	1	4	1	6	2	1	1	6	2	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:29581140G>A	ENST00000377034.4	-	12	1781	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	GABBR1_ENST00000376977.3_Silent_p.N482N|GABBR1_ENST00000377012.4_Silent_p.N365N|GABBR1_ENST00000355973.3_Silent_p.N365N|GABBR1_ENST00000377016.4_Silent_p.N420N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	482					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CAGATGTCTTGTTCAGGGCCA	0.557																																																	0													106	114	111					6																	29581140		1510	2709	4219	SO:0001819	synonymous_variant	0			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1446C>T	6.37:g.29581140G>A			B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.N482	ENST00000377034.4	37	c.1446	CCDS4663.1	6																																																																																			GABBR1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1	ENSG00000204681		0.557	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	-	0	49	0	G			29581140	-1	tier1	-	no_errors	ENST00000377034	ensembl	human	known	74_37	silent	16.42	56	11	SNP	1.000	A	A	29581140	G	A	29581140	2	1	61	1	0	0	0	0	0	0	0	1	6179	1368	48	3		3	GABBR1	6	29581140	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		29581140	141533927	70	17349											
PKHD1	5314	genome.wustl.edu	37	chr6	51524480	51524480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttccccaatagaaaaaagcGcaaaacttgaggagtttgat	16	9	9	7	1	0	3	0	2	0	1	1	4	1	4	2	1	2	3	2	1	7	4	rs148617572		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:51524480G>A	ENST00000371117.3	-	61	10719	c.10444C>T	c.(10444-10446)Cgc>Tgc	p.R3482C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3482			R -> C (in ARPKD). {ECO:0000269|PubMed:12506140, ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R3482C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAAAAAGCGCAAAACTTGA	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM032336	PKHD1	M	rs148617572	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76	78	78		10444	3.9	0.5	6	dbSNP_134	78	0,8600		0,0,4300	no	missense	PKHD1	NM_138694.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3482/4075	51524480	1,13005	2203	4300	6503	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10444C>T	6.37:g.51524480G>A	ENSP00000360158:p.Arg3482Cys		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.R3482C	ENST00000371117.3	37	c.10444	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201621	0.58234	2.27E-4	0.0	ENSG00000170927	ENST00000371117	D	0.94184	-3.37	5.72	3.89	0.44902	.	0.341409	0.25765	N	0.028456	D	0.90045	0.6891	L	0.34521	1.04	0.29128	N	0.879818	D	0.89917	1.0	P	0.57846	0.828	D	0.86300	0.1679	10	0.66056	D	0.02	.	13.3409	0.60545	0.0:0.0:0.4578:0.5422	.	3482	P08F94	PKHD1_HUMAN	C	3482	ENSP00000360158:R3482C	ENSP00000360158:R3482C	R	-	1	0	PKHD1	51632439	0.999000	0.42202	0.472000	0.27241	0.911000	0.54048	2.559000	0.45888	0.717000	0.32145	0.655000	0.94253	CGC	PKHD1	-	NULL	ENSG00000170927		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1		0	38	0	G	NM_138694		51524480	-1			no_errors	ENST00000371117	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.533	A	A	51524480	G	A	51524480	3	1	61	1	0	0	0	0	1	0	0	0	12010	1087	38	1	1808	1	PKHD1	6	51524480	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	21943340	51524480	119590587	71	17350											
C6orf142	90523	genome.wustl.edu	37	chr6	54095682	54095682	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgaacaggagaattcTcacaccctcctcagtcacaa	14	8	7	12	0	3	3	3	2	1	1	5	4	4	3	2	1	1	0	2	1	3	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:54095682T>G	ENST00000274897.5	+	11	1397	c.1284T>G	c.(1282-1284)tcT>tcG	p.S428S	MLIP_ENST00000358276.5_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000502396.1_Silent_p.S963S|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	428						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGAGAATTCTCACACCCTCC	0.478																																																	0													188	165	173					6																	54095682		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1284T>G	6.37:g.54095682T>G			B7Z2N0|D6RE05|Q96H08|Q96NF7	Silent	SNP	NULL	p.S428	ENST00000274897.5	37	c.1284	CCDS4954.1	6																																																																																			MLIP	-	NULL	ENSG00000146147		0.478	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	-	0	50	0	T	NM_138569		54095682	1	tier1	-	no_errors	ENST00000274897	ensembl	human	known	74_37	silent	42.11	33	24	SNP	0.983	G	G	54095682	T	G	54095682	2	3	61	1	0	0	0	0	0	0	0	1	2340	1538	54	4		4	C6orf142	6	54095682	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	2571202	54095682	117019385	72	17351											
EYS	346007	genome.wustl.edu	37	chr6	66044948	66044948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatcagttgtattttccAgatacatgttgccagcccat	10	14	7	10	0	2	1	2	0	0	1	3	2	3	1	3	0	3	3	3	0	2	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:66044948A>G	ENST00000370621.3	-	11	2217	c.1691T>C	c.(1690-1692)cTg>cCg	p.L564P	EYS_ENST00000370618.3_Missense_Mutation_p.L564P|EYS_ENST00000342421.5_Missense_Mutation_p.L564P|EYS_ENST00000503581.1_Missense_Mutation_p.L564P|EYS_ENST00000370616.2_Missense_Mutation_p.L564P|EYS_ENST00000393380.2_Missense_Mutation_p.L564P			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	564					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGTATTTTCCAGATACATGTT	0.358																																																	0													182	166	171					6																	66044948		2203	4300	6503	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1691T>C	6.37:g.66044948A>G	ENSP00000359655:p.Leu564Pro		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L564P	ENST00000370621.3	37	c.1691		6	.	.	.	.	.	.	.	.	.	.	a	5.150	0.213347	0.09757	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36	3.56	0.971	0.19698	.	.	.	.	.	T	0.15046	0.0363	N	0.24115	0.695	0.09310	N	1	P;D;D	0.58620	0.95;0.983;0.971	P;P;P	0.53649	0.648;0.731;0.543	T	0.05007	-1.0912	9	0.62326	D	0.03	.	3.0506	0.06168	0.667:0.0:0.1228:0.2102	.	564;564;564	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	P	564	ENSP00000424243:L564P;ENSP00000359655:L564P;ENSP00000359650:L564P;ENSP00000377042:L564P;ENSP00000341818:L564P;ENSP00000359652:L564P	ENSP00000341818:L564P	L	-	2	0	EYS	66101669	0.019000	0.18553	0.007000	0.13788	0.014000	0.08584	0.948000	0.29096	-0.013000	0.14199	-0.669000	0.03829	CTG	EYS	-	smart_EG-like_dom	ENSG00000188107		0.358	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	57	0	A	XM_294050		66044948	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.002	G	G	66044948	A	G	66044948	3	3	61	1	0	0	0	0	1	0	0	0	5348	188	7	4	7837	4	EYS	6	66044948	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	11949266	66044948	105070119	73	17352											
EPHA7	2045	genome.wustl.edu	37	chr6	93964462	93964462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcactggctgatgtgaatTtccggtactggatggcttcg	7	13	12	9	2	1	2	1	2	0	0	3	3	2	3	1	4	1	3	1	4	2	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:93964462T>G	ENST00000369303.4	-	14	2619	c.2435A>C	c.(2434-2436)aAa>aCa	p.K812T		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	812	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATGTGAATTTCCGGTACTG	0.373																																																	0													129	111	117					6																	93964462		2203	4300	6503	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2435A>C	6.37:g.93964462T>G	ENSP00000358309:p.Lys812Thr		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K812T	ENST00000369303.4	37	c.2435	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694791	0.88830	.	.	ENSG00000135333	ENST00000369303	D	0.83250	-1.7	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.048204	0.85682	D	0.000000	T	0.81588	0.4854	N	0.21324	0.655	0.80722	D	1	D;P;P	0.56746	0.977;0.914;0.93	D;P;P	0.71414	0.973;0.519;0.651	D	0.84953	0.0872	10	0.54805	T	0.06	.	15.6344	0.76941	0.0:0.0:0.0:1.0	.	808;807;812	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	T	812	ENSP00000358309:K812T	ENSP00000358309:K812T	K	-	2	0	EPHA7	94021183	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	7.955000	0.87856	2.105000	0.64084	0.533000	0.62120	AAA	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135333		0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	-	0	52	0	T			93964462	-1	tier1	-	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	60.71	11	17	SNP	1.000	G	G	93964462	T	G	93964462	3	3	61	1	0	0	0	0	1	0	0	0	5188	1841	64	4	577	4	EPHA7	6	93964462	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	27919514	93964462	77150605	74	17353											
VNN1	8876	genome.wustl.edu	37	chr6	133015257	133015257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccccaatatttgccaCaacatagatagagttgttct	11	14	6	10	0	1	2	0	0	1	2	2	2	2	2	3	0	2	2	3	0	5	7	rs45610032	byFrequency	TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:133015257C>A	ENST00000367928.4	-	3	419	c.406G>T	c.(406-408)Gtg>Ttg	p.V136L		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	136	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.		V -> L (in dbSNP:rs45610032). {ECO:0000269|Ref.4}.		acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ATATTTGCCACAACATAGATA	0.438																																																	0													155	139	144					6																	133015257		2203	4300	6503	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.406G>T	6.37:g.133015257C>A	ENSP00000356905:p.Val136Leu		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.V136L	ENST00000367928.4	37	c.406	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721626	0.89298	.	.	ENSG00000112299	ENST00000367928	D	0.89485	-2.52	6.07	6.07	0.98685	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000004	D	0.90140	0.6919	M	0.76002	2.32	0.58432	D	0.999999	P	0.37141	0.584	B	0.44044	0.439	D	0.89290	0.3618	10	0.52906	T	0.07	-8.8184	20.6439	0.99570	0.0:1.0:0.0:0.0	.	136	O95497	VNN1_HUMAN	L	136	ENSP00000356905:V136L	ENSP00000356905:V136L	V	-	1	0	VNN1	133056950	1.000000	0.71417	0.969000	0.41365	0.874000	0.50279	6.622000	0.74233	2.890000	0.99128	0.650000	0.86243	GTG	VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.438	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	-	0	65	0	C			133015257	-1	tier1	-	no_errors	ENST00000367928	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.999	A	A	133015257	C	A	133015257	3	1	61	1	0	0	0	0	1	0	0	0	17231	478	17	3	1155	3	VNN1	6	133015257	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	39050795	133015257	38099810	75	17354											
OLIG3	167826	genome.wustl.edu	37	chr6	137815138	137815138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccttggcgccagcccgcGagaggctttccccgggcatc	4	6	14	17	5	0	1	0	0	0	1	2	2	1	1	5	4	1	2	5	4	0	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:137815138G>A	ENST00000367734.2	-	1	393	c.170C>T	c.(169-171)tCg>tTg	p.S57L		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	57					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GCCAGCCCGCGAGAGGCTTTC	0.612																																																	0													85	87	86					6																	137815138		2203	4300	6503	SO:0001583	missense	0			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.170C>T	6.37:g.137815138G>A	ENSP00000356708:p.Ser57Leu		Q8N8Q0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S57L	ENST00000367734.2	37	c.170	CCDS5186.1	6	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315061	0.40996	.	.	ENSG00000177468	ENST00000367734	D	0.99470	-5.96	5.55	5.55	0.83447	.	0.203077	0.33753	N	0.004588	D	0.96510	0.8861	N	0.14661	0.345	0.40336	D	0.97898	B	0.02656	0.0	B	0.01281	0.0	D	0.93059	0.6472	10	0.32370	T	0.25	-5.2808	19.4938	0.95064	0.0:0.0:1.0:0.0	.	57	Q7RTU3	OLIG3_HUMAN	L	57	ENSP00000356708:S57L	ENSP00000356708:S57L	S	-	2	0	OLIG3	137856831	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.751000	0.68720	2.594000	0.87642	0.591000	0.81541	TCG	OLIG3	-	NULL	ENSG00000177468		0.612	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1	-	0	26	0	G	NM_175747		137815138	-1	tier1	-	no_errors	ENST00000367734	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.998	A	A	137815138	G	A	137815138	3	1	61	1	0	0	0	0	1	0	0	0	10901	1059	37	1	652	1	OLIG3	6	137815138	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	4799881	137815138	33299929	76	17355											
PERP	64065	genome.wustl.edu	37	chr6	138413370	138413370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtctgggtgtacttcaCggggtaaattaccagggaga	11	9	15	6	1	2	1	1	0	1	1	2	3	2	1	1	5	2	2	1	5	5	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:138413370C>T	ENST00000421351.3	-	3	561	c.391G>A	c.(391-393)Gtg>Atg	p.V131M		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	131					activation of cysteine-type endopeptidase activity (GO:0097202)|amelogenesis (GO:0097186)|desmosome organization (GO:0002934)|heterotypic cell-cell adhesion (GO:0034113)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of proteolysis (GO:0045862)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		GTGTACTTCACGGGGTAAATT	0.458																																																	0													84	84	84					6																	138413370		2203	4300	6503	SO:0001583	missense	0			AF317550	CCDS5188.1	6q24	2014-04-29			ENSG00000112378	ENSG00000112378			17637	protein-coding gene	gene with protein product	"keratinocyte associated protein 1"	609301				11062687	Standard	NM_022121		Approved	PIGPC1, dJ496H19.1, KCP1, THW, KRTCAP1	uc003qht.2	Q96FX8	OTTHUMG00000015668	ENST00000421351.3:c.391G>A	6.37:g.138413370C>T	ENSP00000397157:p.Val131Met		B2RB73|E1P590|Q8IWS3|Q8N1J6|Q8NC16|Q9H1C5|Q9H230	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.V131M	ENST00000421351.3	37	c.391	CCDS5188.1	6	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004227	0.93287	.	.	ENSG00000112378	ENST00000421351;ENST00000265603	D	0.88896	-2.44	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.93259	0.7852	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93382	0.6744	10	0.87932	D	0	-33.8676	19.7782	0.96405	0.0:1.0:0.0:0.0	.	131	Q96FX8	PERP_HUMAN	M	131;113	ENSP00000397157:V131M	ENSP00000265603:V113M	V	-	1	0	PERP	138455063	0.999000	0.42202	0.960000	0.40013	0.986000	0.74619	4.343000	0.59348	2.667000	0.90743	0.561000	0.74099	GTG	PERP	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000112378		0.458	PERP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PERP	HGNC	protein_coding	OTTHUMT00000042423.2	-	0	60	0	C	NM_022121		138413370	-1	tier1	-	no_errors	ENST00000421351	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	138413370	C	T	138413370	3	4	61	1	0	0	0	0	1	0	0	0	11771	536	19	1	194	1	PERP	6	138413370	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	598232	138413370	32701697	77	17356											
KIAA1244	57221	genome.wustl.edu	37	chr6	138576830	138576830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccatgaagcccgtgcTccagtccctctaccaccgag	8	7	9	17	2	1	1	0	1	1	0	4	3	4	2	6	1	3	1	6	1	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:138576830T>C	ENST00000251691.4	+	10	1194	c.1028T>C	c.(1027-1029)cTc>cCc	p.L343P		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AAGCCCGTGCTCCAGTCCCTC	0.617																																																	0													22	23	23					6																	138576830		2203	4300	6503	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1028T>C	6.37:g.138576830T>C	ENSP00000251691:p.Leu343Pro			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.L343P	ENST00000251691.4	37	c.1028	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621617	0.87460	.	.	ENSG00000112379	ENST00000251691	T	0.08370	3.1	5.68	5.68	0.88126	.	0.067032	0.64402	D	0.000017	T	0.21761	0.0524	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01021	-1.1478	10	0.87932	D	0	-24.9383	15.9354	0.79698	0.0:0.0:0.0:1.0	.	343	Q5TH69	BIG3_HUMAN	P	343	ENSP00000251691:L343P	ENSP00000251691:L343P	L	+	2	0	KIAA1244	138618523	1.000000	0.71417	0.984000	0.44739	0.964000	0.63967	8.040000	0.89188	2.182000	0.69389	0.533000	0.62120	CTC	KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.617	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0	25	0	T	NM_020340		138576830	1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	C	C	138576830	T	C	138576830	3	2	61	1	0	0	0	0	1	0	0	0	8244	1551	54	4	1066	4	KIAA1244	6	138576830	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	163460	138576830	32538237	78	17357											
NOX3	50508	genome.wustl.edu	37	chr6	155764536	155764536	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttccaggttgaagaaatgCgccacgatgtggatggctag	10	9	14	8	3	0	2	0	1	0	1	1	4	1	3	2	3	1	3	2	3	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:155764536C>T	ENST00000159060.2	-	5	459	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	119	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGAAGAAATGCGCCACGATGT	0.537																																																	0													87	77	80					6																	155764536		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.357G>A	6.37:g.155764536C>T			Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.A119	ENST00000159060.2	37	c.357	CCDS5250.1	6																																																																																			NOX3	-	pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain	ENSG00000074771		0.537	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1	-	0	51	0	C			155764536	-1	tier1	-	no_errors	ENST00000159060	ensembl	human	known	74_37	silent	12.50	56	8	SNP	0.015	T	T	155764536	C	T	155764536	2	4	61	1	0	0	0	0	0	0	0	1	10596	755	27	1		1	NOX3	6	155764536	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	17187706	155764536	15350531	79	17358											
ARID1B	57492	genome.wustl.edu	37	chr6	157525061	157525061	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttttggctgagagtacGtgggctttggacactattaa	8	14	13	6	1	1	1	0	1	1	1	1	3	1	2	0	4	1	3	0	4	3	6	rs146620657		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:157525061G>C	ENST00000350026.5	+	18	4918	c.4917G>C	c.(4915-4917)acG>acC	p.T1639T	ARID1B_ENST00000367148.1_Silent_p.T1692T|ARID1B_ENST00000346085.5_Silent_p.T1652T|ARID1B_ENST00000275248.4_Silent_p.T1634T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1639					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGAGAGTACGTGGGCTTTGG	0.438																																																	0													509	505	506					6																	157525061		2203	4296	6499	SO:0001819	synonymous_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4917G>C	6.37:g.157525061G>C			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1692	ENST00000350026.5	37	c.5076	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.438	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	156	0	G	NM_020732		157525061	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	silent	22.22	146	42	SNP	0.010	C	C	157525061	G	C	157525061	2	2	61	1	0	0	0	0	0	0	0	1	914	1132	40	5		5	ARID1B	6	157525061	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	1760525	157525061	13590006	80	17359											
C6orf118	168090	genome.wustl.edu	37	chr6	165715455	165715455	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgggcctcactggggAccagggccgtgtggatggtg	4	9	18	10	1	1	0	1	0	0	0	2	2	2	2	4	6	0	0	4	6	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr6:165715455A>C	ENST00000230301.8	-	2	376	c.356T>G	c.(355-357)gTc>gGc	p.V119G	C6orf118_ENST00000543069.1_Missense_Mutation_p.V15G	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	119										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTCACTGGGGACCAGGGCCGT	0.657																																																	0													66	70	69					6																	165715455		2203	4300	6503	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.356T>G	6.37:g.165715455A>C	ENSP00000230301:p.Val119Gly		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.V119G	ENST00000230301.8	37	c.356	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	A	6.940	0.543216	0.13250	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.15487	2.58;2.42	5.31	0.305	0.15801	.	2.124770	0.01950	N	0.042540	T	0.02929	0.0087	L	0.31664	0.95	0.09310	N	0.999991	B	0.12013	0.005	B	0.08055	0.003	T	0.32508	-0.9904	10	0.20519	T	0.43	.	0.8465	0.01162	0.4626:0.1934:0.1977:0.1463	.	119	Q5T5N4	CF118_HUMAN	G	119;15	ENSP00000230301:V119G;ENSP00000439288:V15G	ENSP00000230301:V119G	V	-	2	0	C6orf118	165635445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.045000	0.14013	-0.167000	0.10871	0.533000	0.62120	GTC	C6orf118	-	NULL	ENSG00000112539		0.657	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	28	0	A	NM_144980		165715455	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.000	C	C	165715455	A	C	165715455	3	2	61	1	0	0	0	0	1	0	0	0	2330	275	10	4	1085	4	C6orf118	6	165715455	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	8190394	165715455	5399612	81	17360											
SDK1	221935	genome.wustl.edu	37	chr7	4051763	4051763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaccacccagtgctcccccGaaaaatatagtggccagtgg	12	6	10	13	1	0	0	0	0	0	0	1	2	1	0	5	2	2	1	5	2	5	2	rs375976550		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr7:4051763G>A	ENST00000404826.2	+	16	2455	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	SDK1_ENST00000389531.3_Silent_p.P772P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	772	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTGCTCCCCCGAAAAATATAG	0.522																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	143	160	154		2316	-10.6	0	7		154	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SDK1	NM_152744.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		772/2214	4051763	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2316G>A	7.37:g.4051763G>A			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P772	ENST00000404826.2	37	c.2316	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.522	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	55	0	G	NM_152744		4051763	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.000	A	A	4051763	G	A	4051763	2	1	61	1	0	0	0	0	0	0	0	1	14013	1045	37	1		1	SDK1	7	4051763	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		4051763	155086900	82	17361											
DNAH11	8701	genome.wustl.edu	37	chr7	21779255	21779255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtcgcctgcatgaatccGatggtgggcagcttcaccat	8	11	11	11	2	1	1	1	1	0	0	3	2	2	1	3	2	2	3	3	2	2	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr7:21779255G>A	ENST00000409508.3	+	48	7909	c.7878G>A	c.(7876-7878)ccG>ccA	p.P2626P	DNAH11_ENST00000328843.6_Silent_p.P2633P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2633	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCATGAATCCGATGGTGGGCA	0.423									Kartagener syndrome																																								0													120	109	113					7																	21779255		1909	4128	6037	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7878G>A	7.37:g.21779255G>A			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P2633	ENST00000409508.3	37	c.7899		7																																																																																			DNAH11	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000105877		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	71	0	G	NM_003777		21779255	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	50.00	57	57	SNP	0.030	A	A	21779255	G	A	21779255	2	1	61	1	0	0	0	0	0	0	0	1	4613	1045	37	1		1	DNAH11	7	21779255	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	17727492	21779255	137359408	83	17362											
ZNF680	340252	genome.wustl.edu	37	chr7	63981863	63981863	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgtgaattctcttatgTcgagtaaggctggagcaccc	9	12	11	9	1	1	1	0	1	1	0	3	3	1	2	1	2	1	3	1	2	4	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr7:63981863T>C	ENST00000309683.6	-	4	1420	c.1269A>G	c.(1267-1269)cgA>cgG	p.R423R	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTCTCTTATGTCGAGTAAGGC	0.368																																																	0													33	34	34					7																	63981863		2201	4298	6499	SO:0001819	synonymous_variant	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1269A>G	7.37:g.63981863T>C			B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R423	ENST00000309683.6	37	c.1269	CCDS34644.1	7																																																																																			ZNF680	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173041		0.368	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	-	0	47	0	T	NM_178558		63981863	-1	tier1	-	no_errors	ENST00000309683	ensembl	human	known	74_37	silent	21.28	37	10	SNP	0.255	C	C	63981863	T	C	63981863	2	2	61	1	0	0	0	0	0	0	0	1	18135	1654	58	4		4	ZNF680	7	63981863	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	42202608	63981863	95156800	84	17363											
DTX2	113878	genome.wustl.edu	37	chr7	76112341	76112342	+	In_Frame_Ins	INS	-	-	CAC																															cggtctgcgcccaggctgaaINScaccaccaacgcctggggcg																								rs555222086		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr7:76112341_76112342insCAC	ENST00000324432.5	+	5	1295_1296	c.785_786insCAC	c.(784-789)aacacc>aaCACcacc	p.264_265insT	DTX2_ENST00000430490.2_In_Frame_Ins_p.264_265insT|DTX2_ENST00000446820.2_In_Frame_Ins_p.264_265insT|DTX2_ENST00000413936.2_In_Frame_Ins_p.264_265insT|DTX2_ENST00000446600.1_In_Frame_Ins_p.173_174insT|DTX2_ENST00000307569.8_In_Frame_Ins_p.264_265insT	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	264					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCCAGGCTGAACACCACCAACG	0.678																																																	0																																										SO:0001652	inframe_insertion	0				CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"RING-type (C3HC4) zinc fingers"	15973	protein-coding gene	gene with protein product		613141	"deltex (Drosophila) homolog 2", "deltex homolog 2 (Drosophila)"			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.789_791dupCAC	7.37:g.76112345_76112347dupCAC	ENSP00000322885:p.Thr264_Thr264dup		Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	In_Frame_Ins	INS	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.265in_frame_insT	ENST00000324432.5	37	c.785_786	CCDS5587.1	7																																																																																			DTX2	-	NULL	ENSG00000091073		0.678	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTX2	HGNC	protein_coding	OTTHUMT00000253104.2		0	31	0	-			76112342	1	tier1		no_errors	ENST00000324432	ensembl	human	known	74_37	in_frame_ins	47.22	19	17	INS	0.797:0.424	CAC	CAC	76112342	-	CAC	76112341	7	5	61	1	0	1	1	0	0	0	0	0	4808	43	2	0	791	0	DTX2	7	76112341	In_Frame_Ins	INS	-	TCGA-L5-A4ON-01A-11D-A27G-09	12130478	76112341	83026322	85	17364											
CDHR3	222256	genome.wustl.edu	37	chr7	105636791	105636791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaacgacgaagtccctcGctttaccaggtaggcctgag	9	8	10	14	3	1	1	1	1	0	0	3	3	2	1	4	2	2	2	4	2	4	3	rs200623269		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr7:105636791G>A	ENST00000317716.9	+	6	784	c.704G>A	c.(703-705)cGc>cAc	p.R235H	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000541203.1_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.R147H|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000542731.1_Missense_Mutation_p.R235H	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAGTCCCTCGCTTTACCAGG	0.587													G|||	1	0.000199681	0	0	5008	,	,		19518	0		0.001	False		,,,				2504	0																0								G	HIS/ARG	2,4074		0,2,2036	34	37	36		704	-0.1	0.6	7		36	5,8347		0,5,4171	yes	missense	CDHR3	NM_152750.4	29	0,7,6207	AA,AG,GG		0.0599,0.0491,0.0563	benign	235/886	105636791	7,12421	2038	4176	6214	SO:0001583	missense	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.704G>A	7.37:g.105636791G>A	ENSP00000325954:p.Arg235His		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R235H	ENST00000317716.9	37	c.704	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	4.951	0.176682	0.09443	4.91E-4	5.99E-4	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.38887	1.11;1.11;1.11	5.27	-0.0994	0.13624	Cadherin (2);Cadherin-like (1);	0.448728	0.24044	N	0.042079	T	0.26702	0.0653	L	0.45698	1.435	0.26193	N	0.979556	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.15636	-1.0430	10	0.15952	T	0.53	-3.3985	4.534	0.12019	0.1906:0.0:0.5143:0.2952	.	222;235	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	H	235;235;147	ENSP00000439766:R235H;ENSP00000325954:R235H;ENSP00000417771:R147H	ENSP00000325954:R235H	R	+	2	0	CDHR3	105424027	0.249000	0.23941	0.582000	0.28627	0.419000	0.31324	0.384000	0.20668	0.078000	0.16900	-1.142000	0.01873	CGC	CDHR3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000128536		0.587	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0	38	0	G	NM_152750		105636791	1	tier1	rs200623269	no_errors	ENST00000317716	ensembl	human	known	74_37	missense	74.29	9	26	SNP	0.321	A	A	105636791	G	A	105636791	3	1	61	1	0	0	0	0	1	0	0	0	3127	1087	38	1	726	1	CDHR3	7	105636791	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	29524450	105636791	53501872	86	17365											
HIPK2	28996	genome.wustl.edu	37	chr7	139257834	139257834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgggggcccatgctcaCggggacctggtggacgatgc	6	5	17	13	3	1	0	1	0	0	0	1	4	1	2	3	6	2	1	3	6	0	0	rs544605371		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr7:139257834C>T	ENST00000406875.3	-	15	3530	c.3436G>A	c.(3436-3438)Gtg>Atg	p.V1146M	HIPK2_ENST00000428878.2_Missense_Mutation_p.V1119M	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	1146	Autoinhibitory domain (AID).				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CCCATGCTCACGGGGACCTGG	0.687													C|||	1	0.000199681	0	0	5008	,	,		10303	0		0	False		,,,				2504	0.001																0													27	34	32					7																	139257834		2154	4249	6403	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.3436G>A	7.37:g.139257834C>T	ENSP00000385571:p.Val1146Met		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V1146M	ENST00000406875.3	37	c.3436		7	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952591	0.73787	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.61274	0.12;0.14	5.2	4.29	0.51040	.	.	.	.	.	T	0.74107	0.3673	.	.	.	0.49483	D	0.999792	D;D	0.76494	0.998;0.999	P;D	0.64237	0.84;0.923	T	0.77222	-0.2667	8	0.52906	T	0.07	.	15.3549	0.74421	0.0:0.8597:0.1403:0.0	.	1146;1119	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	M	1146;1119	ENSP00000385571:V1146M;ENSP00000413724:V1119M	ENSP00000385571:V1146M	V	-	1	0	HIPK2	138908374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.144000	0.77357	1.124000	0.41980	0.655000	0.94253	GTG	HIPK2	-	NULL	ENSG00000064393		0.687	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	-	0	71	0	C	NM_022740		139257834	-1	tier1	-	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	29.49	55	23	SNP	0.999	T	T	139257834	C	T	139257834	3	4	61	1	0	0	0	0	1	0	0	0	7144	536	19	1	164	1	HIPK2	7	139257834	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	33621043	139257834	19880829	87	17366											
CSMD1	64478	genome.wustl.edu	37	chr8	4494898	4494898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttgttgaggctgtccatCgtaaactgataaaatatcaa	13	12	7	9	1	1	2	1	2	0	0	3	2	2	2	2	1	1	3	2	1	6	5	rs201992115		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:4494898C>T	ENST00000520002.1	-	2	823	c.268G>A	c.(268-270)Gat>Aat	p.D90N	CSMD1_ENST00000539096.1_Missense_Mutation_p.D90N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D90N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D90N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D90N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D90N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D90N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	90	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGCTGTCCATCGTAAACTGAT	0.378																																																	0													114	115	114					8																	4494898		1880	4119	5999	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.268G>A	8.37:g.4494898C>T	ENSP00000430733:p.Asp90Asn		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D90N	ENST00000520002.1	37	c.268		8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184263	0.78677	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.18	5.18	0.71444	.	.	.	.	.	T	0.60143	0.2246	M	0.71920	2.185	0.41481	D	0.98816	D	0.89917	1.0	D	0.91635	0.999	T	0.63677	-0.6583	9	0.62326	D	0.03	.	16.1821	0.81915	0.0:1.0:0.0:0.0	.	90	E5RIG2	.	N	90	ENSP00000383047:D90N;ENSP00000430733:D90N;ENSP00000441462:D90N;ENSP00000446243:D90N;ENSP00000441675:D90N	ENSP00000383047:D90N	D	-	1	0	CSMD1	4482306	1.000000	0.71417	0.084000	0.20598	0.489000	0.33432	7.755000	0.85180	2.420000	0.82092	0.585000	0.79938	GAT	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.378	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	37	0	C	NM_033225		4494898	-1	tier1	rs201992115	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	36.67	38	22	SNP	1.000	T	T	4494898	C	T	4494898	3	4	61	1	0	0	0	0	1	0	0	0	3953	884	31	1	10515	1	CSMD1	8	4494898	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09		4494898	141869124	88	17367											
DLC1	10395	genome.wustl.edu	37	chr8	13357035	13357035	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacttatagagtcagtaacTtttctctccccactttcttt	8	19	3	11	0	3	1	1	0	2	1	5	1	4	1	2	0	2	1	2	0	4	8			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:13357035T>G	ENST00000276297.4	-	2	955	c.546A>C	c.(544-546)aaA>aaC	p.K182N	DLC1_ENST00000511869.1_Missense_Mutation_p.K182N|DLC1_ENST00000316609.5_Missense_Mutation_p.K182N	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	182					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.K182N(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTCAGTAACTTTTCTCTCCC	0.393																																																	3	Substitution - Missense(3)	lung(3)											119	124	122					8																	13357035		2203	4299	6502	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.546A>C	8.37:g.13357035T>G	ENSP00000276297:p.Lys182Asn		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.K182N	ENST00000276297.4	37	c.546	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	T	9.241	1.038264	0.19669	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.29397	1.57;1.57;1.57	5.12	5.12	0.69794	.	0.766586	0.11412	N	0.566664	T	0.25568	0.0622	L	0.52573	1.65	0.09310	N	1	B;P;B	0.43352	0.225;0.804;0.001	B;B;B	0.40134	0.047;0.32;0.001	T	0.35226	-0.9797	10	0.42905	T	0.14	.	2.3523	0.04287	0.1619:0.0822:0.1484:0.6076	.	182;182;182	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	N	182	ENSP00000276297:K182N;ENSP00000321034:K182N;ENSP00000425878:K182N	ENSP00000276297:K182N	K	-	3	2	DLC1	13401406	0.001000	0.12720	0.005000	0.12908	0.068000	0.16541	0.571000	0.23669	2.288000	0.76882	0.533000	0.62120	AAA	DLC1	-	NULL	ENSG00000164741		0.393	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0	24	0	T	NM_182643, NM_006094		13357035	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	missense	36.00	16	9	SNP	0.001	G	G	13357035	T	G	13357035	3	3	61	1	0	0	0	0	1	0	0	0	4564	1606	56	4	4193	4	DLC1	8	13357035	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	8862137	13357035	133006987	89	17368											
LZTS1	11178	genome.wustl.edu	37	chr8	20107396	20107396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctgctgcagctgtttcTggtactgaatcaccttctcc	6	14	8	13	0	4	1	1	1	3	0	5	1	4	1	2	1	5	6	2	1	2	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:20107396T>C	ENST00000381569.1	-	4	1985	c.1628A>G	c.(1627-1629)cAg>cGg	p.Q543R	LZTS1_ENST00000522290.1_Missense_Mutation_p.Q484R|LZTS1_ENST00000265801.6_Missense_Mutation_p.Q543R			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	543					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CAGCTGTTTCTGGTACTGAAT	0.642																																																	0													119	118	118					8																	20107396		2203	4300	6503	SO:0001583	missense	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1628A>G	8.37:g.20107396T>C	ENSP00000370981:p.Gln543Arg		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	NULL	p.Q543R	ENST00000381569.1	37	c.1628	CCDS6015.1	8	.	.	.	.	.	.	.	.	.	.	t	14.68	2.607320	0.46527	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.59772	0.24;0.24;0.24	5.17	4.01	0.46588	.	0.133515	0.52532	D	0.000074	T	0.72566	0.3476	M	0.86651	2.83	0.58432	D	0.999999	P;P	0.48294	0.888;0.908	P;P	0.55508	0.669;0.777	T	0.75274	-0.3375	10	0.66056	D	0.02	-41.2275	10.4873	0.44731	0.1455:0.0:0.0:0.8545	.	484;543	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	R	543;543;484;520	ENSP00000370981:Q543R;ENSP00000265801:Q543R;ENSP00000429263:Q484R	ENSP00000265801:Q543R	Q	-	2	0	LZTS1	20151676	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	6.225000	0.72271	0.817000	0.34445	-0.386000	0.06593	CAG	LZTS1	-	NULL	ENSG00000061337		0.642	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	-	0	37	0	T	NM_021020		20107396	-1	tier1	-	no_errors	ENST00000265801	ensembl	human	known	74_37	missense	47.73	23	21	SNP	1.000	C	C	20107396	T	C	20107396	3	2	61	1	0	0	0	0	1	0	0	0	9174	1580	55	4	166	4	LZTS1	8	20107396	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	6750361	20107396	126256626	90	17369											
LOXL2	4017	genome.wustl.edu	37	chr8	23186066	23186066	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcaccgcctctcagtcGcaccaggggttgctgaagag	8	7	14	12	2	1	2	1	1	1	1	3	2	1	2	3	3	1	5	3	3	2	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:23186066G>A	ENST00000389131.3	-	6	1348	c.979C>T	c.(979-981)Cga>Tga	p.R327*	LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	327	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCTCAGTCGCACCAGGGGT	0.642																																																	0													64	58	60					8																	23186066		2203	4300	6503	SO:0001587	stop_gained	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.979C>T	8.37:g.23186066G>A	ENSP00000373783:p.Arg327*		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Nonsense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.R327*	ENST00000389131.3	37	c.979	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	G	43	10.050652	0.99325	.	.	ENSG00000134013	ENST00000389131	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8224	0.63331	0.0:0.0:0.8463:0.1537	.	.	.	.	X	327	.	ENSP00000373783:R327X	R	-	1	2	LOXL2	23242011	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	5.138000	0.64795	2.593000	0.87608	0.455000	0.32223	CGA	LOXL2	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	ENSG00000134013		0.642	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	-	0	31	0	G			23186066	-1	tier1	-	no_errors	ENST00000389131	ensembl	human	known	74_37	nonsense	22.41	45	13	SNP	1.000	A	A	23186066	G	A	23186066	4	1	61	1	0	0	0	0	0	1	0	0	8935	1095	38	1	1381	1	LOXL2	8	23186066	Nonsense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	3078670	23186066	123177956	91	17370											
EBF2	64641	genome.wustl.edu	37	chr8	25898183	25898183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagaggtcctgttccgtgcgGacacctgcggggaccggagg	6	7	17	11	4	0	1	0	0	0	1	2	4	2	4	4	6	2	1	4	6	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:25898183G>A	ENST00000520164.1	-	4	894	c.357C>T	c.(355-357)gtC>gtT	p.V119V	EBF2_ENST00000408929.3_5'UTR	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	119					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTTCCGTGCGGACACCTGCGG	0.652																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													14	20	18					8																	25898183		1917	4096	6013	SO:0001819	synonymous_variant	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.357C>T	8.37:g.25898183G>A			A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.V119	ENST00000520164.1	37	c.357	CCDS43726.1	8																																																																																			EBF2	-	NULL	ENSG00000221818		0.652	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	-	0	31	0	G	NM_022659		25898183	-1	tier1	-	no_errors	ENST00000520164	ensembl	human	known	74_37	silent	28.81	42	17	SNP	1.000	A	A	25898183	G	A	25898183	2	1	61	1	0	0	0	0	0	0	0	1	4895	1161	41	3		3	EBF2	8	25898183	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2712117	25898183	120465839	92	17371											
NRG1	3084	genome.wustl.edu	37	chr8	32505698	32505698	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatctgaaagtgaggttcaAgttacagtgcaaggtgacaa	15	9	11	6	0	2	3	1	3	1	0	2	3	2	3	0	2	2	3	0	2	6	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:32505698A>G	ENST00000405005.3	+	5	502				NRG1_ENST00000341377.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000520502.2_Silent_p.Q154Q|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTGAGGTTCAAGTTACAGTGC	0.493																																																	0													195	164	175					8																	32505698		2203	4300	6503	SO:0001627	intron_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+31295A>G	8.37:g.32505698A>G			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	smart_EG-like_dom,pfscan_EG-like_dom	p.Q154	ENST00000405005.3	37	c.462	CCDS6085.1	8																																																																																			NRG1	-	NULL	ENSG00000157168		0.493	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	84	0	A			32505698	1	tier1	-	no_errors	ENST00000520502	ensembl	human	known	74_37	silent	42.48	88	65	SNP	0.996	G	G	32505698	A	G	32505698	1	3	61	0	1	0	0	0	0	0	0	0	10686	69	3	4		4	NRG1	8	32505698	Intron	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	6607515	32505698	113858324	93	17372											
PRKDC	5591	genome.wustl.edu	37	chr8	48739330	48739330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagcctcctctagcaggcgGatgcccacgggctgctgtag	7	7	14	13	2	1	1	0	0	1	1	2	2	2	2	3	3	4	4	3	3	2	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:48739330G>C	ENST00000314191.2	-	64	8723	c.8667C>G	c.(8665-8667)atC>atG	p.I2889M	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I2889M	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2890	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTAGCAGGCGGATGCCCACGG	0.657								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													15	19	18					8																	48739330		2016	4178	6194	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8667C>G	8.37:g.48739330G>C	ENSP00000313420:p.Ile2889Met		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I2889M	ENST00000314191.2	37	c.8667		8	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682864	0.47991	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03553	3.97;3.89	5.55	0.425	0.16473	PIK-related kinase (1);	0.304122	0.29853	N	0.011039	T	0.10252	0.0251	M	0.76328	2.33	0.46044	D	0.998834	D;B	0.63046	0.992;0.437	D;B	0.63283	0.913;0.263	T	0.09100	-1.0690	10	0.72032	D	0.01	.	2.1951	0.03909	0.2659:0.12:0.4902:0.1238	.	2889;2890	E7EUY0;P78527	.;PRKDC_HUMAN	M	2889	ENSP00000313420:I2889M;ENSP00000345182:I2889M	ENSP00000313420:I2889M	I	-	3	3	PRKDC	48901883	1.000000	0.71417	0.006000	0.13384	0.894000	0.52154	1.658000	0.37376	-0.229000	0.09854	-0.137000	0.14449	ATC	PRKDC	-	pfscan_PIK_FAT	ENSG00000253729		0.657	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	51	0	G	NM_001081640		48739330	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	39.13	28	18	SNP	1.000	C	C	48739330	G	C	48739330	3	2	61	1	0	0	0	0	1	0	0	0	12563	1164	41	5	3812	5	PRKDC	8	48739330	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	16233632	48739330	97624692	94	17373											
RALYL	138046	genome.wustl.edu	37	chr8	85774633	85774633	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgcagggggaaaggagtCttttccatgaaaggtggatc	11	9	14	7	1	1	1	0	1	1	0	4	4	2	4	1	5	0	1	1	5	2	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:85774633C>A	ENST00000521268.1	+	6	1621	c.516C>A	c.(514-516)gtC>gtA	p.V172V	RALYL_ENST00000522455.1_Silent_p.V172V|RALYL_ENST00000518566.1_Silent_p.V161V|RALYL_ENST00000523850.1_Silent_p.V99V|RALYL_ENST00000517638.1_Silent_p.V185V|RALYL_ENST00000521695.1_Silent_p.V172V|RALYL_ENST00000521376.1_Silent_p.V83V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	172							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGAAAGGAGTCTTTTCCATGA	0.483																																																	0													68	72	71					8																	85774633		1929	4143	6072	SO:0001819	synonymous_variant	0				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.516C>A	8.37:g.85774633C>A			B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.V172	ENST00000521268.1	37	c.516	CCDS55253.1	8																																																																																			RALYL	-	pirsf_hnRNP_C_Raly	ENSG00000184672		0.483	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	-	0	55	0	C			85774633	1	tier1	-	no_errors	ENST00000521268	ensembl	human	known	74_37	silent	29.23	46	19	SNP	1.000	A	A	85774633	C	A	85774633	2	1	61	1	0	0	0	0	0	0	0	1	13065	900	32	3		3	RALYL	8	85774633	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	37035303	85774633	60589389	95	17374											
MMP16	4325	genome.wustl.edu	37	chr8	89068446	89068446	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattccacttccaagggttAtcaagtcatgagggtaacca	13	10	9	9	0	2	1	2	1	0	0	4	2	4	1	3	2	1	2	3	2	5	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:89068446A>T	ENST00000286614.6	-	8	1564	c.1283T>A	c.(1282-1284)aTa>aAa	p.I428K		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	428					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCCAAGGGTTATCAAGTCATG	0.398																																																	0													103	98	100					8																	89068446		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1283T>A	8.37:g.89068446A>T	ENSP00000286614:p.Ile428Lys		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.I428K	ENST00000286614.6	37	c.1283	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	A	8.137	0.784402	0.16189	.	.	ENSG00000156103	ENST00000286614	T	0.02236	4.38	5.81	5.81	0.92471	Hemopexin/matrixin (2);	0.300736	0.40385	N	0.001117	T	0.01092	0.0036	N	0.00677	-1.265	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.64871	-0.6305	10	0.21540	T	0.41	.	16.1773	0.81862	1.0:0.0:0.0:0.0	.	428	P51512	MMP16_HUMAN	K	428	ENSP00000286614:I428K	ENSP00000286614:I428K	I	-	2	0	MMP16	89137562	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.444000	0.80532	2.217000	0.71921	0.482000	0.46254	ATA	MMP16	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000156103		0.398	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	69	0	A	NM_005941		89068446	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	24.71	64	21	SNP	0.999	T	T	89068446	A	T	89068446	3	4	61	1	0	0	0	0	1	0	0	0	9693	449	16	5	552	5	MMP16	8	89068446	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	3293813	89068446	57295576	96	17375											
TMEM67	91147	genome.wustl.edu	37	chr8	94822043	94822043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatggattactttataaaaGataagttgcttcttgaaaga	17	14	7	3	0	1	3	0	1	1	2	1	4	1	4	0	1	2	2	0	1	7	8			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:94822043G>C	ENST00000453321.3	+	26	2750	c.2692G>C	c.(2692-2694)Gat>Cat	p.D898H	TMEM67_ENST00000409623.3_Missense_Mutation_p.D817H	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	898					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CTTTATAAAAGATAAGTTGCT	0.289																																																	0													42	47	45					8																	94822043		2203	4281	6484	SO:0001583	missense	0			BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"Meckelin"	609884	"Meckel syndrome, type 3"	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2692G>C	8.37:g.94822043G>C	ENSP00000389998:p.Asp898His		B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Missense_Mutation	SNP	pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom	p.D898H	ENST00000453321.3	37	c.2692	CCDS6258.2	8	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634435	0.87660	.	.	ENSG00000164953	ENST00000453321;ENST00000409623	D;D	0.97089	-4.24;-4.24	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.996	D;D;D	0.91635	0.999;0.981;0.947	D	0.99239	1.0884	10	0.72032	D	0.01	-22.1956	19.9569	0.97222	0.0:0.0:1.0:0.0	.	898;817;817	Q5HYA8;B3KRU5;G5E9H2	MKS3_HUMAN;.;.	H	898;817	ENSP00000389998:D898H;ENSP00000386966:D817H	ENSP00000314488:D888H	D	+	1	0	TMEM67	94891219	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.382000	0.97209	2.729000	0.93468	0.460000	0.39030	GAT	TMEM67	-	pfam_Meckelin	ENSG00000164953		0.289	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM67	HGNC	protein_coding	OTTHUMT00000329641.2	-	0	72	0	G	NM_153704		94822043	1	tier1	-	no_errors	ENST00000453321	ensembl	human	known	74_37	missense	12.93	101	15	SNP	1.000	C	C	94822043	G	C	94822043	3	2	61	1	0	0	0	0	1	0	0	0	16243	942	33	5	2932	5	TMEM67	8	94822043	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	5753597	94822043	51541979	97	17376											
TM7SF4	81501	genome.wustl.edu	37	chr8	105361511	105361511	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtggttggaagtatgaaaAcatctacatcaccagacaat	15	11	8	7	0	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	6	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:105361511A>C	ENST00000297581.2	+	2	780	c.731A>C	c.(730-732)aAc>aCc	p.N244T	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.N244T|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	244					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAGTATGAAAACATCTACATC	0.488																																																	0													102	97	99					8																	105361511		2203	4300	6503	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.731A>C	8.37:g.105361511A>C	ENSP00000297581:p.Asn244Thr		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.N244T	ENST00000297581.2	37	c.731	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	A	21.9	4.217786	0.79352	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.58060	0.36;0.36	5.76	5.76	0.90799	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.81942	2.565	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.76184	-0.3052	9	.	.	.	-20.8224	14.6526	0.68808	1.0:0.0:0.0:0.0	.	244	Q9H295	TM7S4_HUMAN	T	244	ENSP00000297581:N244T;ENSP00000428869:N244T	.	N	+	2	0	TM7SF4	105430687	1.000000	0.71417	0.612000	0.29024	0.933000	0.57130	5.910000	0.69931	2.211000	0.71520	0.454000	0.30748	AAC	DCSTAMP	-	pfam_DC_STAMP-like	ENSG00000164935		0.488	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1	-	0	69	0	A	NM_030788		105361511	1	tier1	-	no_errors	ENST00000297581	ensembl	human	known	74_37	missense	18.81	81	19	SNP	0.991	C	C	105361511	A	C	105361511	3	2	61	1	0	0	0	0	1	0	0	0	16023	43	2	4	733	4	TM7SF4	8	105361511	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	10539468	105361511	41002511	98	17377											
EPPK1	83481	genome.wustl.edu	37	chr8	144940783	144940783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagcgcttgacgcggtcGtcctccatgagctcttgcgt	5	11	13	12	5	1	2	0	2	1	0	4	2	3	2	2	2	3	3	2	2	1	3	rs563449577		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr8:144940783G>A	ENST00000525985.1	-	2	6710	c.6639C>T	c.(6637-6639)gaC>gaT	p.D2213D				P58107	EPIPL_HUMAN	epiplakin 1	2213						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGCGGTCGTCCTCCATGA	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		16943	0		0	False		,,,				2504	0																0													137	141	140					8																	144940783		2045	4179	6224	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6639C>T	8.37:g.144940783G>A			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.D2213	ENST00000525985.1	37	c.6639		8																																																																																			EPPK1	-	NULL	ENSG00000227184		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1		0	14	0	G	NM_031308		144940783	-1			no_errors	ENST00000525985	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.007	A	A	144940783	G	A	144940783	2	1	61	1	0	0	0	0	0	0	0	1	5206	1136	40	1		1	EPPK1	8	144940783	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	39579272	144940783	1423239	99	17378											
GBA2	57704	genome.wustl.edu	37	chr9	35737850	35737850	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgcatcccattcacAgcccccatggcccctcctgc	5	8	9	19	0	1	0	1	0	0	0	3	0	3	0	6	3	3	2	6	3	0	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:35737850A>G	ENST00000378103.3	-	16	2923	c.2400T>C	c.(2398-2400)gcT>gcC	p.A800A	GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_Silent_p.A101A|GBA2_ENST00000545786.1_Silent_p.A806A|GBA2_ENST00000378094.4_Silent_p.A800A	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	800					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCCATTCACAGCCCCCATGG	0.572																																																	0													86	80	82					9																	35737850		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"bile acid beta-glucosidase", "non-lysosomal glucosylceramidase"	609471	"spastic paraplegia 46 (autosomal recessive)"	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2400T>C	9.37:g.35737850A>G			D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.A806	ENST00000378103.3	37	c.2418	CCDS6589.1	9																																																																																			GBA2	-	pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	-	0	50	0	A	NM_020944		35737850	-1	tier1	-	no_errors	ENST00000545786	ensembl	human	known	74_37	silent	21.18	67	18	SNP	0.993	G	G	35737850	A	G	35737850	2	3	61	1	0	0	0	0	0	0	0	1	6292	175	7	4		4	GBA2	9	35737850	Silent	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09		35737850	105475581	100	17379											
CCIN	881	genome.wustl.edu	37	chr9	36170618	36170619	+	Frame_Shift_Ins	INS	-	-	G																															tccacaccatggtgacctgtINSggggggacagtgtactcagt																										TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:36170618_36170619insG	ENST00000335119.2	+	1	1230_1231	c.1119_1120insG	c.(1120-1122)gggfs	p.G374fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	374					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGGTGACCTGTGGGGGGACAGT	0.584																																																	0																																										SO:0001589	frameshift_variant	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1125dupG	9.37:g.36170624_36170624dupG	ENSP00000334996:p.Gly374fs		Q9BXG7	Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.T375fs	ENST00000335119.2	37	c.1119_1120	CCDS6599.1	9																																																																																			CCIN	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000185972		0.584	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1		0	64	0	-	NM_005893		36170619	1	tier1		no_errors	ENST00000335119	ensembl	human	known	74_37	frame_shift_ins	19.18	59	14	INS	0.655:0.977	G	G	36170619	-	G	36170618	7	5	61	1	0	1	1	0	0	0	0	0	2885	1702	59	0	1121	0	CCIN	9	36170618	Frame_Shift_Ins	INS	-	TCGA-L5-A4ON-01A-11D-A27G-09	432768	36170618	105042813	101	17380											
FAM75A3	727830	genome.wustl.edu	37	chr9	40705717	40705717	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaaacatgaagaaaggcTtgaaggattgaggactcctc	17	7	11	6	0	0	5	0	3	0	2	2	7	1	7	1	3	1	1	1	3	5	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:40705717T>A	ENST00000356699.5	+	4	3403	c.3374T>A	c.(3373-3375)cTt>cAt	p.L1125H	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	1125					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAAGAAAGGCTTGAAGGATTG	0.468																																																	0													52	46	48					9																	40705717		1507	3027	4534	SO:0001583	missense	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.3374T>A	9.37:g.40705717T>A	ENSP00000349132:p.Leu1125His			Missense_Mutation	SNP	NULL	p.L1125H	ENST00000356699.5	37	c.3374	CCDS47969.1	9	.	.	.	.	.	.	.	.	.	.	T	5.198	0.222051	0.09863	.	.	ENSG00000147926	ENST00000356699	T	0.06687	3.27	1.9	1.9	0.25705	.	2.609370	0.01177	N	0.006997	T	0.15003	0.0362	L	0.39898	1.24	0.09310	N	1	P	0.50272	0.933	P	0.54401	0.751	T	0.18304	-1.0341	10	0.28530	T	0.3	.	5.8481	0.18677	0.0:0.0:0.0:1.0	.	1125	Q5VYP0	F75A3_HUMAN	H	1125	ENSP00000349132:L1125H	ENSP00000349132:L1125H	L	+	2	0	FAM75A3	40695717	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.206000	0.09398	1.140000	0.42260	0.327000	0.21459	CTT	SPATA31A3	-	NULL	ENSG00000147926		0.468	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1	-	0	92	0	T	NM_001083124		40705717	1	tier1	-	no_errors	ENST00000356699	ensembl	human	known	74_37	missense	60.56	28	43	SNP	0.001	A	A	40705717	T	A	40705717	3	1	61	1	0	0	0	0	1	0	0	0	5643	1609	56	5	3388	5	FAM75A3	9	40705717	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	4535099	40705717	100507714	102	17381											
TRPM6	140803	genome.wustl.edu	37	chr9	77370357	77370357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggctctggattcaactgGtcactctgagagcaggcatt	8	11	11	11	0	4	1	2	1	2	1	4	3	4	2	1	4	2	3	1	4	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:77370357G>C	ENST00000360774.1	-	28	5055	c.4818C>G	c.(4816-4818)gaC>gaG	p.D1606E	TRPM6_ENST00000361255.3_Missense_Mutation_p.D1601E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1601E|TRPM6_ENST00000451710.3_Missense_Mutation_p.D1606E|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1606E|TRPM6_ENST00000376872.3_Missense_Mutation_p.D557E|TRPM6_ENST00000376871.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1606					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATTCAACTGGTCACTCTGAG	0.433																																																	0													167	147	154					9																	77370357		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4818C>G	9.37:g.77370357G>C	ENSP00000354006:p.Asp1606Glu		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.D1606E	ENST00000360774.1	37	c.4818	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	3.483	-0.105400	0.06967	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T;T	0.52526	0.75;0.75;0.68;0.75;0.75;0.66	5.13	-1.78	0.07957	.	0.559053	0.20416	N	0.092771	T	0.42359	0.1199	L	0.60455	1.87	0.09310	N	1	D;B;B;B	0.57257	0.979;0.02;0.161;0.034	P;B;B;B	0.50405	0.64;0.024;0.079;0.053	T	0.33599	-0.9862	10	0.52906	T	0.07	.	2.0444	0.03557	0.3336:0.2033:0.3597:0.1034	.	557;1606;1601;1601	Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;TRPM6_HUMAN;.;.	E	1606;1606;557;1601;1601;1606	ENSP00000354006:D1606E;ENSP00000407341:D1606E;ENSP00000366068:D557E;ENSP00000396672:D1601E;ENSP00000354962:D1601E;ENSP00000366060:D1606E	ENSP00000354006:D1606E	D	-	3	2	TRPM6	76560177	0.431000	0.25546	0.057000	0.19452	0.001000	0.01503	-0.098000	0.11024	-0.199000	0.10317	-0.793000	0.03317	GAC	TRPM6	-	NULL	ENSG00000119121		0.433	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	-	0	57	0	G	NM_017662		77370357	-1	tier1	-	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.048	C	C	77370357	G	C	77370357	3	2	61	1	0	0	0	0	1	0	0	0	16638	1252	44	5	1298	5	TRPM6	9	77370357	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	36664640	77370357	63843074	103	17382											
OR13C2	392376	genome.wustl.edu	37	chr9	107367310	107367310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacaatgttgtggccacaAgcatgatgaactcattgtct	12	12	9	8	0	2	3	1	3	1	0	2	3	2	3	1	1	3	2	1	1	4	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:107367310A>G	ENST00000542196.1	-	1	641	c.599T>C	c.(598-600)cTt>cCt	p.L200P		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTGGCCACAAGCATGATGAA	0.403																																																	0													154	147	149					9																	107367310		2201	4300	6501	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.599T>C	9.37:g.107367310A>G	ENSP00000438815:p.Leu200Pro		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L200P	ENST00000542196.1	37	c.599	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	A	5.703	0.314216	0.10789	.	.	ENSG00000257019	ENST00000542196	T	0.00235	8.48	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.700134	0.10552	U	0.661382	T	0.00412	0.0013	M	0.88570	2.965	0.09310	N	0.999998	P	0.45428	0.858	P	0.46419	0.516	T	0.41770	-0.9490	10	0.54805	T	0.06	.	10.0804	0.42386	1.0:0.0:0.0:0.0	.	200	Q8NGS9	O13C2_HUMAN	P	200	ENSP00000438815:L200P	ENSP00000438815:L200P	L	-	2	0	OR13C2	106407131	0.003000	0.15002	0.025000	0.17156	0.054000	0.15201	1.936000	0.40183	1.475000	0.48197	0.379000	0.24179	CTT	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000257019		0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	-	0	66	0	A	NM_001004481		107367310	-1	tier1	-	no_errors	ENST00000542196	ensembl	human	known	74_37	missense	38.89	44	28	SNP	0.001	G	G	107367310	A	G	107367310	3	3	61	1	0	0	0	0	1	0	0	0	10973	72	3	4	360	4	OR13C2	9	107367310	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	29996953	107367310	33846121	104	17383											
LPAR1	1902	genome.wustl.edu	37	chr9	113637739	113637739	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgctgtgaactccagccaAgatggtgtggttgagggagg	9	10	16	6	0	0	3	0	2	0	1	1	4	1	4	2	4	3	2	2	4	2	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:113637739A>C	ENST00000374431.3	-	5	1440	c.1057T>G	c.(1057-1059)Ttg>Gtg	p.L353V	LPAR1_ENST00000358883.4_Missense_Mutation_p.L353V|LPAR1_ENST00000374430.2_Missense_Mutation_p.L353V|LPAR1_ENST00000538760.1_Missense_Mutation_p.L354V|LPAR1_ENST00000541779.1_Missense_Mutation_p.L354V	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	353					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ACTCCAGCCAAGATGGTGTGG	0.582																																					NSCLC(115;661 2323 9836 34256)												0													104	96	98					9																	113637739		2203	4300	6503	SO:0001583	missense	0			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"	3166	protein-coding gene	gene with protein product		602282	"endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.1057T>G	9.37:g.113637739A>C	ENSP00000363553:p.Leu353Val		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn	p.L354V	ENST00000374431.3	37	c.1060	CCDS6777.1	9	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373866	0.42105	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.78481	-1.18;-1.07;-1.18;-1.18;-1.18	6.06	1.13	0.20643	.	0.260016	0.31624	N	0.007340	T	0.53850	0.1822	N	0.14661	0.345	0.52099	D	0.999945	B;B;P	0.39216	0.435;0.435;0.664	B;B;B	0.30029	0.11;0.071;0.102	T	0.43909	-0.9362	10	0.33141	T	0.24	.	9.9448	0.41602	0.5143:0.0:0.4857:0.0	.	354;354;353	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	V	353;354;353;353;335;354	ENSP00000363553:L353V;ENSP00000445697:L354V;ENSP00000363552:L353V;ENSP00000351755:L353V;ENSP00000440201:L354V	ENSP00000351755:L353V	L	-	1	2	LPAR1	112677560	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	0.970000	0.29383	-0.033000	0.13736	0.533000	0.62120	TTG	LPAR1	-	prints_LPA_rcpt_EDG2	ENSG00000198121		0.582	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	-	0	66	0	A	NM_057159		113637739	-1	tier1	-	no_errors	ENST00000538760	ensembl	human	known	74_37	missense	30.43	48	21	SNP	0.997	C	C	113637739	A	C	113637739	3	2	61	1	0	0	0	0	1	0	0	0	8939	69	3	4	41	4	LPAR1	9	113637739	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	6270429	113637739	27575692	105	17384											
COL27A1	85301	genome.wustl.edu	37	chr9	117063406	117063406	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggaccttcgggactcccgGtatgtgtggggattggacag	6	10	17	8	2	0	0	0	0	0	0	2	4	1	4	2	6	0	1	2	6	1	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:117063406G>A	ENST00000356083.3	+	52	5146		c.e52+1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGACTCCCGGTATGTGTGGG	0.587																																																	0													61	65	64					9																	117063406		2203	4300	6503	SO:0001630	splice_region_variant	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4755+1G>A	9.37:g.117063406G>A			Q66K43|Q96JF7	Splice_Site	SNP	-	e52+1	ENST00000356083.3	37	c.4755+1	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243064	0.79912	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8229	0.85923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL27A1	116103227	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.833000	0.92089	2.564000	0.86499	0.561000	0.74099	.	COL27A1	-	-	ENSG00000196739		0.587	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	-	0	92	0	G	NM_032888	Intron	117063406	1	tier1	-	no_errors	ENST00000356083	ensembl	human	known	74_37	splice_site	28.00	54	21	SNP	1.000	A	A	117063406	G	A	117063406	5	1	61	1	0	0	0	0	0	0	1	0	3692	1275	44	3	4962	3	COL27A1	9	117063406	Splice_Site	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	3425667	117063406	24150025	106	17385											
ASTN2	23245	genome.wustl.edu	37	chr9	120053713	120053713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagctgctcatggagacGtggaagtacaaggtgccatt	10	8	14	9	2	1	1	1	0	0	1	1	4	1	3	2	4	4	3	2	4	3	2	rs150992416	byFrequency	TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:120053713G>A	ENST00000313400.4	-	2	622	c.522C>T	c.(520-522)caC>caT	p.H174H	ASTN2_ENST00000373996.3_Silent_p.H174H|ASTN2_ENST00000361209.2_Silent_p.H174H|ASTN2_ENST00000361477.3_De_novo_Start_OutOfFrame			O75129	ASTN2_HUMAN	astrotactin 2	174					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TCATGGAGACGTGGAAGTACA	0.602													G|||	3	0.000599042	0.0015	0	5008	,	,		14919	0		0.001	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	66	62	63		522	0.7	1	9	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ASTN2	NM_014010.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		174/1289	120053713	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.522C>T	9.37:g.120053713G>A			A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.H174	ENST00000313400.4	37	c.522		9																																																																																			ASTN2	-	NULL	ENSG00000148219		0.602	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	32	0	G	NM_014010		120053713	-1	tier1	rs150992416	no_errors	ENST00000313400	ensembl	human	known	74_37	silent	24.14	22	7	SNP	0.999	A	A	120053713	G	A	120053713	2	1	61	1	0	0	0	0	0	0	0	1	1066	1136	40	1		1	ASTN2	9	120053713	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2990307	120053713	21159718	107	17386											
DAB2IP	153090	genome.wustl.edu	37	chr9	124525826	124525826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagaggtggaccgctgcGgggacaacgagcacctcatc	9	6	14	12	3	2	1	2	0	0	1	3	4	2	3	2	4	3	2	2	4	1	0	rs142519289		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:124525826G>A	ENST00000408936.3	+	7	1395	c.1213G>A	c.(1213-1215)Ggg>Agg	p.G405R	DAB2IP_ENST00000309989.1_Missense_Mutation_p.G281R|DAB2IP_ENST00000259371.2_Missense_Mutation_p.G377R			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	405	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGACCGCTGCGGGGACAACGA	0.617																																																	0								G	ARG/GLY,ARG/GLY	0,4406		0,0,2203	70	59	63		1129,841	4.2	1	9	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	DAB2IP	NM_032552.2,NM_138709.1	125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	377/1133,281/1066	124525826	1,13005	2203	4300	6503	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"nGAP-like protein", "DOC-2/DAB2 interactive protein", "ASK-interacting protein", "ASK1-interacting protein 1"	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1213G>A	9.37:g.124525826G>A	ENSP00000386183:p.Gly405Arg		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.G405R	ENST00000408936.3	37	c.1213		9	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697835	0.68386	0.0	1.16E-4	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.09	4.18	0.49190	.	0.050828	0.85682	N	0.000000	T	0.67353	0.2884	L	0.38838	1.175	0.80722	D	1	P	0.35745	0.518	B	0.32762	0.152	T	0.64504	-0.6392	10	0.26408	T	0.33	.	14.8168	0.70041	0.0:0.145:0.855:0.0	.	377	G3XA90	.	R	377;405;314;281	ENSP00000259371:G377R;ENSP00000386183:G405R;ENSP00000362887:G314R;ENSP00000310827:G281R	ENSP00000259371:G377R	G	+	1	0	DAB2IP	123565647	1.000000	0.71417	0.978000	0.43139	0.950000	0.60333	5.781000	0.68964	1.239000	0.43787	0.655000	0.94253	GGG	DAB2IP	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000136848		0.617	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0	31	0	G	NM_032552		124525826	1	tier1	rs142519289	no_errors	ENST00000408936	ensembl	human	known	74_37	missense	45.45	18	15	SNP	1.000	A	A	124525826	G	A	124525826	3	1	61	1	0	0	0	0	1	0	0	0	4228	1116	39	1	1155	1	DAB2IP	9	124525826	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	4472113	124525826	16687605	108	17387											
ASS1	445	genome.wustl.edu	37	chr9	133352306	133352306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccaggacccagccaaaGcccccaacacccctgacatt	13	3	6	19	0	0	2	0	1	0	1	0	3	0	3	7	1	3	0	7	1	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr9:133352306G>A	ENST00000372394.1	+	10	1127	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	ASS1_ENST00000352480.5_Missense_Mutation_p.A216T|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.A216T			P00966	ASSY_HUMAN	argininosuccinate synthase 1	216					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCCAGCCAAAGCCCCCAACAC	0.547																																																	0													112	119	116					9																	133352306		2203	4300	6503	SO:0001583	missense	0			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"argininosuccinate synthetase"	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.646G>A	9.37:g.133352306G>A	ENSP00000361471:p.Ala216Thr		Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.A216T	ENST00000372394.1	37	c.646	CCDS6933.1	9	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143877	0.57044	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	D;D;D	0.98701	-5.08;-5.08;-5.08	6.08	4.24	0.50183	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.205072	0.42548	U	0.000682	D	0.96833	0.8966	M	0.63169	1.94	0.40695	D	0.982431	B;B;B;B;B	0.32040	0.004;0.353;0.353;0.011;0.011	B;B;B;B;B	0.33454	0.04;0.164;0.164;0.027;0.027	D	0.95859	0.8881	10	0.87932	D	0	.	6.0428	0.19744	0.1488:0.0:0.6262:0.225	.	216;99;99;216;216	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	T	216	ENSP00000253004:A216T;ENSP00000361471:A216T;ENSP00000361469:A216T	ENSP00000361470:A216T	A	+	1	0	ASS1	132342127	0.961000	0.32948	0.999000	0.59377	0.818000	0.46254	0.963000	0.29293	1.594000	0.50039	0.655000	0.94253	GCC	ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth	ENSG00000130707		0.547	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	-	0	35	0	G	NM_000050		133352306	1	tier1	-	no_errors	ENST00000352480	ensembl	human	known	74_37	missense	44.44	15	12	SNP	0.962	A	A	133352306	G	A	133352306	3	1	61	1	0	0	0	0	1	0	0	0	1062	971	34	3	676	3	ASS1	9	133352306	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	8826480	133352306	7861125	109	17388											
GATA3	2625	genome.wustl.edu	37	chr10	8097681	8097681	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccccgccgtgctcaacggGcagcacccggacacgcacca	9	2	10	20	5	1	0	1	0	0	0	1	1	1	1	5	2	3	4	5	2	1	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:8097681G>T	ENST00000346208.3	+	2	518	c.63G>T	c.(61-63)ggG>ggT	p.G21G	RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA|GATA3_ENST00000379328.3_Silent_p.G21G			P23771	GATA3_HUMAN	GATA binding protein 3	21					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGCTCAACGGGCAGCACCCGG	0.706			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													19	17	18					10																	8097681		2176	4259	6435	SO:0001819	synonymous_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.63G>T	10.37:g.8097681G>T			Q5VWG7|Q5VWG8|Q96J16	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G21	ENST00000346208.3	37	c.63	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.706	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	-	0	48	0	G	NM_001002295		8097681	1	tier1	-	no_errors	ENST00000379328	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.996	T	T	8097681	G	T	8097681	2	4	61	1	0	0	0	0	0	0	0	1	6280	1190	42	3		3	GATA3	10	8097681	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		8097681	127437066	110	17389											
CELF2	10659	genome.wustl.edu	37	chr10	11367844	11367844	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccaccttccacaggaatTtggagaccaggacattctgc	11	10	8	12	0	1	1	0	0	1	1	2	4	2	3	4	3	2	0	4	3	2	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:11367844T>G	ENST00000379261.4	+	12	1393	c.1301T>G	c.(1300-1302)tTt>tGt	p.F434C	CELF2_ENST00000542579.1_Missense_Mutation_p.F447C|CELF2_ENST00000399850.3_Missense_Mutation_p.F416C|CELF2_ENST00000537122.1_Missense_Mutation_p.F329C|CELF2_ENST00000608830.1_Missense_Mutation_p.F414C|CELF2_ENST00000609692.1_Intron|CELF2_ENST00000450189.1_Missense_Mutation_p.F447C|CELF2_ENST00000354440.2_Missense_Mutation_p.F416C|CELF2_ENST00000427450.1_Missense_Mutation_p.F416C|CELF2_ENST00000354897.3_Missense_Mutation_p.F428C|CELF2_ENST00000416382.2_Missense_Mutation_p.F434C|CELF2_ENST00000417956.2_Missense_Mutation_p.F414C|CELF2_ENST00000315874.4_Missense_Mutation_p.F416C	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	434	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CCACAGGAATTTGGAGACCAG	0.418																																																	0													131	119	123					10																	11367844		1868	4106	5974	SO:0001583	missense	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1301T>G	10.37:g.11367844T>G	ENSP00000368563:p.Phe434Cys		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.F447C	ENST00000379261.4	37	c.1340	CCDS44354.1	10	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869336	0.51588	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.25	5.25	0.73442	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.33702	0.0872	L	0.41236	1.265	0.80722	D	1	B;B;B;D;B;B	0.76494	0.025;0.012;0.136;0.999;0.072;0.045	B;B;B;D;B;B	0.85130	0.158;0.12;0.151;0.997;0.148;0.158	T	0.04481	-1.0948	10	0.59425	D	0.04	-10.4627	15.1706	0.72869	0.0:0.0:0.0:1.0	.	422;440;435;447;447;434	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	C	434;434;447;447;416;414;416;416;424;416;329;240	ENSP00000368563:F434C;ENSP00000406451:F434C;ENSP00000389951:F447C;ENSP00000443926:F447C;ENSP00000382743:F416C;ENSP00000404834:F414C;ENSP00000315328:F416C;ENSP00000346426:F416C;ENSP00000388530:F416C;ENSP00000438884:F329C	ENSP00000315328:F416C	F	+	2	0	CELF2	11407850	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.980000	0.57719	0.528000	0.53228	TTT	CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000048740		0.418	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0	88	0	T			11367844	1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	missense	42.03	40	29	SNP	1.000	G	G	11367844	T	G	11367844	3	3	61	1	0	0	0	0	1	0	0	0	3223	1841	64	4	1455	4	CELF2	10	11367844	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	3270163	11367844	124166903	111	17390											
ITGA8	8516	genome.wustl.edu	37	chr10	15649773	15649773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggttatcaaggaagagcGtccgtttaatagctcctttc	10	13	10	8	2	1	1	1	0	0	1	4	3	3	2	2	2	2	3	2	2	5	5	rs147309422		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:15649773G>A	ENST00000378076.3	-	17	2020	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	556					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGGAAGAGCGTCCGTTTAAT	0.428																																																	0								G	MET/THR	0,4406		0,0,2203	144	137	139		1667	4.9	0.2	10	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	no	missense	ITGA8	NM_003638.1	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	556/1064	15649773	2,13004	2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1667C>T	10.37:g.15649773G>A	ENSP00000367316:p.Thr556Met		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T556M	ENST00000378076.3	37	c.1667	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298813	0.40694	0.0	2.33E-4	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.45276	0.9	5.84	4.93	0.64822	Integrin alpha-2 (1);	0.145069	0.64402	D	0.000006	T	0.57607	0.2065	M	0.65498	2.005	0.37223	D	0.905314	D;D	0.71674	0.997;0.998	P;P	0.61800	0.831;0.894	T	0.59306	-0.7479	10	0.33940	T	0.23	.	14.3627	0.66785	0.0706:0.0:0.9294:0.0	.	541;556	F5H818;P53708	.;ITA8_HUMAN	M	556;541	ENSP00000367316:T556M	ENSP00000367316:T556M	T	-	2	0	ITGA8	15689779	0.999000	0.42202	0.215000	0.23724	0.076000	0.17211	3.595000	0.54016	2.767000	0.95098	0.591000	0.81541	ACG	ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.428	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	11	0	G	NM_003638		15649773	-1	tier1	rs147309422	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.747	A	A	15649773	G	A	15649773	3	1	61	1	0	0	0	0	1	0	0	0	7909	1145	40	1	1580	1	ITGA8	10	15649773	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	4281929	15649773	119884974	112	17391											
KIAA1462	57608	genome.wustl.edu	37	chr10	30316554	30316554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcttcctcttcctggagCtccttgttaaaactttctaa	7	18	4	12	0	3	0	0	0	3	0	6	1	6	1	3	1	2	2	3	1	3	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:30316554C>T	ENST00000375377.1	-	3	2624	c.2523G>A	c.(2521-2523)gaG>gaA	p.E841E		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	841					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTCCTGGAGCTCCTTGTTAA	0.542																																																	0													60	64	63					10																	30316554		2054	4197	6251	SO:0001819	synonymous_variant	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2523G>A	10.37:g.30316554C>T			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.E841	ENST00000375377.1	37	c.2523	CCDS41500.1	10																																																																																			KIAA1462	-	NULL	ENSG00000165757		0.542	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	-	0	66	0	C	NM_020848		30316554	-1	tier1	-	no_errors	ENST00000375377	ensembl	human	known	74_37	silent	25.86	43	15	SNP	1.000	T	T	30316554	C	T	30316554	2	4	61	1	0	0	0	0	0	0	0	1	8261	796	28	3		3	KIAA1462	10	30316554	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	14666781	30316554	105218193	113	17392											
BICC1	80114	genome.wustl.edu	37	chr10	60556253	60556253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtcccagcctggatatcTtagcttcagcaggccttgga	8	11	10	12	0	2	0	1	0	1	0	3	2	3	2	3	3	3	2	3	3	2	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:60556253T>G	ENST00000373886.3	+	10	1337	c.1333T>G	c.(1333-1335)Tta>Gta	p.L445V	BICC1_ENST00000263103.1_Missense_Mutation_p.L71V	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	445					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCTGGATATCTTAGCTTCAGC	0.517																																																	0													87	77	80					10																	60556253		2203	4300	6503	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1333T>G	10.37:g.60556253T>G	ENSP00000362993:p.Leu445Val			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.L445V	ENST00000373886.3	37	c.1333	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	T	18.16	3.561758	0.65538	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.50548	1.62;0.74	5.18	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.61324	0.2338	L	0.54323	1.7	0.48975	D	0.999732	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.978	T	0.62210	-0.6902	10	0.66056	D	0.02	-8.7709	11.1332	0.48360	0.0:0.0731:0.0:0.9269	.	365;445	E7EU62;Q9H694	.;BICC1_HUMAN	V	445;71	ENSP00000362993:L445V;ENSP00000263103:L71V	ENSP00000263103:L71V	L	+	1	2	BICC1	60226259	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.757000	0.47557	0.909000	0.36697	0.533000	0.62120	TTA	BICC1	-	NULL	ENSG00000122870		0.517	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0	46	0	T	NM_025044		60556253	1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	G	G	60556253	T	G	60556253	3	3	61	1	0	0	0	0	1	0	0	0	1429	1606	56	4	1371	4	BICC1	10	60556253	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	30239699	60556253	74978494	114	17393											
KIAA1274	27143	genome.wustl.edu	37	chr10	72298759	72298759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcacggcccagcccagcGccaaggtgaccggccctcag	8	2	13	18	4	1	1	1	1	0	0	1	1	1	1	5	4	2	1	5	4	1	0	rs141972259		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:72298759G>A	ENST00000263563.6	+	13	1832	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	522						cytosol (GO:0005829)											CCAGCCCAGCGCCAAGGTGAC	0.706																																																	0								G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	39	45	43		1564	0.8	1	10	dbSNP_134	43	0,8596		0,0,4298	no	missense	KIAA1274	NM_014431.2	58	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	522/857	72298759	1,12997	2201	4298	6499	SO:0001583	missense	0			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"paladin", "KIAA1274"	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1564G>A	10.37:g.72298759G>A	ENSP00000263563:p.Ala522Thr		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.A522T	ENST00000263563.6	37	c.1564	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	g	13.54	2.267238	0.40095	2.27E-4	0.0	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.43688	0.94	5.01	0.795	0.18643	.	0.315608	0.35615	N	0.003084	T	0.24431	0.0592	L	0.37561	1.115	0.31688	N	0.64223	B	0.18166	0.026	B	0.16722	0.016	T	0.15435	-1.0437	10	0.15952	T	0.53	-10.1664	4.0514	0.09796	0.2689:0.0:0.434:0.2971	.	522	Q9ULE6	PALD_HUMAN	T	522	ENSP00000263563:A522T	ENSP00000263563:A522T	A	+	1	0	KIAA1274	71968765	0.987000	0.35691	0.973000	0.42090	0.797000	0.45037	1.742000	0.38248	0.159000	0.19401	-0.284000	0.09977	GCC	PALD1	-	NULL	ENSG00000107719		0.706	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	-	0	30	0	G	NM_014431		72298759	1	tier1	rs141972259	no_errors	ENST00000263563	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.998	A	A	72298759	G	A	72298759	3	1	61	1	0	0	0	0	1	0	0	0	8247	1087	38	1	1610	1	KIAA1274	10	72298759	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	11742506	72298759	63235988	115	17394											
GRID1	2894	genome.wustl.edu	37	chr10	87628820	87628820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcagggaggagatgcGgtggttgttcctcgtgcatt	7	10	17	7	2	0	2	0	0	0	2	2	4	1	3	1	4	3	5	1	4	0	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:87628820G>A	ENST00000327946.7	-	6	983	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	300					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GAGGAGATGCGGTGGTTGTTC	0.567										Multiple Myeloma(13;0.14)																																							0													205	153	171					10																	87628820		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.898C>T	10.37:g.87628820G>A	ENSP00000330148:p.Arg300Cys		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R300C	ENST00000327946.7	37	c.898	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449921	0.84101	.	.	ENSG00000182771	ENST00000327946	D	0.86230	-2.09	5.58	5.58	0.84498	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91938	0.7447	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92327	0.5870	10	0.87932	D	0	.	13.5144	0.61533	0.0:0.0:0.8441:0.1559	.	300	Q9ULK0	GRID1_HUMAN	C	300	ENSP00000330148:R300C	ENSP00000330148:R300C	R	-	1	0	GRID1	87618800	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.527000	0.67123	2.617000	0.88574	0.563000	0.77884	CGC	GRID1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000182771		0.567	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0	68	0	G	XM_043613		87628820	-1	tier1	-	no_errors	ENST00000327946	ensembl	human	known	74_37	missense	37.29	37	22	SNP	1.000	A	A	87628820	G	A	87628820	3	1	61	1	0	0	0	0	1	0	0	0	6798	1116	39	1	2175	1	GRID1	10	87628820	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	15330061	87628820	47905927	116	17395											
CPXM2	119587	genome.wustl.edu	37	chr10	125526577	125526577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcgatcctctgcctccCagagcagcgtgtttaaatca	8	12	8	13	2	3	1	1	0	2	1	6	2	5	1	3	0	3	2	3	0	2	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr10:125526577C>A	ENST00000241305.3	-	10	1545	c.1391G>T	c.(1390-1392)tGg>tTg	p.W464L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	464					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCTGCCTCCCAGAGCAGCGT	0.517																																																	0													135	125	129					10																	125526577		2203	4300	6503	SO:0001583	missense	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1391G>T	10.37:g.125526577C>A	ENSP00000241305:p.Trp464Leu		B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.W464L	ENST00000241305.3	37	c.1391	CCDS7637.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.661401|4.661401	0.88154|0.88154	.|.	.|.	ENSG00000121898|ENSG00000121898	ENST00000418782|ENST00000241305;ENST00000540123	.|T	.|0.04603	.|3.59	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Peptidase M14, carboxypeptidase A (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.22551	.|0.0544	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|T	.|0.00852	.|-1.1540	.|10	.|0.87932	.|D	.|0	.|-14.9976	17.8309|17.8309	0.88682|0.88682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|464	.|Q8N436	.|CPXM2_HUMAN	.|L	-1|464;297	.|ENSP00000241305:W464L	.|ENSP00000241305:W464L	.|W	-|-	.|2	.|0	CPXM2|CPXM2	125516567|125516567	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	7.624000|7.624000	0.83124|0.83124	2.420000|2.420000	0.82092|0.82092	0.650000|0.650000	0.86243|0.86243	.|TGG	CPXM2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000121898		0.517	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	-	0	78	0	C	NM_198148		125526577	-1	tier1	-	no_errors	ENST00000241305	ensembl	human	known	74_37	missense	36.84	48	28	SNP	1.000	A	A	125526577	C	A	125526577	3	1	61	1	0	0	0	0	1	0	0	0	3845	595	21	3	899	3	CPXM2	10	125526577	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	37897757	125526577	10008170	117	17396											
OR52J3	119679	genome.wustl.edu	37	chr11	5068582	5068582	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaggttacattcacattcTtgttgccaatctctatttga	10	16	5	10	0	3	1	1	1	2	0	4	1	3	1	2	1	2	2	2	1	3	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:5068582T>G	ENST00000380370.1	+	1	827	c.827T>G	c.(826-828)cTt>cGt	p.L276R		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCACATTCTTGTTGCCAAT	0.423																																																	0													176	158	164					11																	5068582		2201	4298	6499	SO:0001583	missense	0			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.827T>G	11.37:g.5068582T>G	ENSP00000369728:p.Leu276Arg		Q6IFE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L276R	ENST00000380370.1	37	c.827	CCDS31370.1	11	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656121	0.29425	.	.	ENSG00000205495	ENST00000380370	T	0.00188	8.59	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000805	T	0.00784	0.0026	H	0.97023	3.925	0.33349	D	0.570876	D	0.76494	0.999	D	0.77004	0.989	T	0.02877	-1.1099	10	0.87932	D	0	.	7.1995	0.25873	0.0:0.1013:0.0:0.8987	.	276	Q8NH60	O52J3_HUMAN	R	276	ENSP00000369728:L276R	ENSP00000369728:L276R	L	+	2	0	OR52J3	5025158	0.185000	0.23213	0.998000	0.56505	0.100000	0.18952	3.875000	0.56108	1.742000	0.51746	0.533000	0.62120	CTT	OR52J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205495		0.423	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	HGNC	protein_coding	OTTHUMT00000142807.1	-	0	101	0	T	NM_001001916		5068582	1	tier1	-	no_errors	ENST00000380370	ensembl	human	known	74_37	missense	77.61	15	52	SNP	0.908	G	G	5068582	T	G	5068582	3	3	61	1	0	0	0	0	1	0	0	0	11161	1609	56	4	829	4	OR52J3	11	5068582	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09		5068582	129937934	118	17397											
OR52E2	119678	genome.wustl.edu	37	chr11	5080572	5080572	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggtgaggcaggcttcaaAgatgatccctctgaggttga	9	10	14	8	0	2	5	1	4	1	1	3	5	3	5	1	4	0	3	1	4	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:5080572A>C	ENST00000321522.2	-	1	285	c.286T>G	c.(286-288)Ttt>Gtt	p.F96V		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGGCTTCAAAGATGATCCCT	0.488																																																	0													79	74	76					11																	5080572		2201	4298	6499	SO:0001583	missense	0			AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"GPCR / Class A : Olfactory receptors"	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.286T>G	11.37:g.5080572A>C	ENSP00000322088:p.Phe96Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F96V	ENST00000321522.2	37	c.286	CCDS31371.1	11	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572320	0.28092	.	.	ENSG00000176787	ENST00000321522	T	0.05925	3.37	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.114638	0.39020	N	0.001484	T	0.18964	0.0455	M	0.85099	2.735	0.09310	N	1	D	0.54601	0.967	P	0.53224	0.721	T	0.04607	-1.0939	10	0.87932	D	0	.	11.1617	0.48520	1.0:0.0:0.0:0.0	.	96	Q8NGJ4	O52E2_HUMAN	V	96	ENSP00000322088:F96V	ENSP00000322088:F96V	F	-	1	0	OR52E2	5037148	0.011000	0.17503	0.744000	0.31058	0.013000	0.08279	2.718000	0.47236	1.966000	0.57179	0.529000	0.55759	TTT	OR52E2	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176787		0.488	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E2	HGNC	protein_coding	OTTHUMT00000142815.1	-	0	52	0	A	NM_001005164		5080572	-1	tier1	-	no_errors	ENST00000321522	ensembl	human	known	74_37	missense	81.48	10	44	SNP	0.112	C	C	5080572	A	C	5080572	3	2	61	1	0	0	0	0	1	0	0	0	11154	72	3	4	694	4	OR52E2	11	5080572	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	11990	5080572	129925944	119	17398											
OR52E4	390081	genome.wustl.edu	37	chr11	5905821	5905821	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcagctttgggggatgccTtcttcagatgttctttattc	6	17	10	8	0	4	1	2	0	2	1	5	3	4	2	1	2	2	2	1	2	1	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:5905821T>G	ENST00000316987.2	+	1	321	c.299T>G	c.(298-300)cTt>cGt	p.L100R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGGATGCCTTCTTCAGATG	0.463																																																	0													109	97	101					11																	5905821		2201	4296	6497	SO:0001583	missense	0			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"GPCR / Class A : Olfactory receptors"	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.299T>G	11.37:g.5905821T>G	ENSP00000321426:p.Leu100Arg		Q6IFG0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L100R	ENST00000316987.2	37	c.299	CCDS31401.1	11	.	.	.	.	.	.	.	.	.	.	T	13.58	2.279627	0.40294	.	.	ENSG00000180974	ENST00000316987	T	0.21932	1.98	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000470	T	0.54983	0.1892	M	0.93594	3.435	0.39385	D	0.966324	D	0.65815	0.995	D	0.67900	0.954	T	0.69390	-0.5158	10	0.87932	D	0	.	13.727	0.62765	0.0:0.0:0.0:1.0	.	100	Q8NGH9	O52E4_HUMAN	R	100	ENSP00000321426:L100R	ENSP00000321426:L100R	L	+	2	0	OR52E4	5862397	0.117000	0.22190	0.340000	0.25575	0.047000	0.14425	2.976000	0.49289	2.106000	0.64143	0.523000	0.50628	CTT	OR52E4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180974		0.463	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E4	HGNC	protein_coding	OTTHUMT00000401146.1	-	0	96	0	T	NM_001005165		5905821	1	tier1	-	no_errors	ENST00000316987	ensembl	human	known	74_37	missense	56.67	26	34	SNP	0.781	G	G	5905821	T	G	5905821	3	3	61	1	0	0	0	0	1	0	0	0	11155	1609	56	4	301	4	OR52E4	11	5905821	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	825249	5905821	129100695	120	17399											
OR2D3	120775	genome.wustl.edu	37	chr11	6942312	6942312	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaccaaacctttgtgtccaAgtttatcttcctgggtcttt	9	16	6	10	0	2	0	0	0	2	0	4	0	4	0	4	1	2	1	4	1	4	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:6942312A>C	ENST00000317834.3	+	1	108	c.80A>C	c.(79-81)aAg>aCg	p.K27T		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTGTGTCCAAGTTTATCTTC	0.413																																																	0													91	94	93					11																	6942312		2201	4296	6497	SO:0001583	missense	0			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"GPCR / Class A : Olfactory receptors"	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.80A>C	11.37:g.6942312A>C	ENSP00000320560:p.Lys27Thr		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K27T	ENST00000317834.3	37	c.80	CCDS31417.1	11	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154224	0.38021	.	.	ENSG00000178358	ENST00000317834	T	0.01084	5.36	5.16	4.02	0.46733	.	0.693153	0.12367	N	0.475162	T	0.00845	0.0028	N	0.04260	-0.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49881	-0.8892	10	0.46703	T	0.11	-23.7213	9.8623	0.41123	0.8469:0.0:0.0:0.1531	.	27	Q8NGH3	OR2D3_HUMAN	T	27	ENSP00000320560:K27T	ENSP00000320560:K27T	K	+	2	0	OR2D3	6898888	0.967000	0.33354	0.004000	0.12327	0.115000	0.19883	3.797000	0.55514	1.070000	0.40811	0.533000	0.62120	AAG	OR2D3	-	NULL	ENSG00000178358		0.413	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2D3	HGNC	protein_coding	OTTHUMT00000385987.1	-	0	55	0	A	NM_001004684		6942312	1	tier1	-	no_errors	ENST00000317834	ensembl	human	known	74_37	missense	64.10	14	25	SNP	0.021	C	C	6942312	A	C	6942312	3	2	61	1	0	0	0	0	1	0	0	0	11034	72	3	4	82	4	OR2D3	11	6942312	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	1036491	6942312	128064204	121	17400											
CTR9	9646	genome.wustl.edu	37	chr11	10785358	10785358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcttatcctaataattacGaaactatgaaaattctcggc	16	12	5	8	2	1	1	0	1	1	0	3	2	2	1	1	1	3	1	1	1	9	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:10785358G>A	ENST00000361367.2	+	9	1552	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	376					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TAATAATTACGAAACTATGAA	0.348																																																	0													77	83	81					11																	10785358		2201	4294	6495	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1126G>A	11.37:g.10785358G>A	ENSP00000355013:p.Glu376Lys		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E376K	ENST00000361367.2	37	c.1126	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769608	0.90020	.	.	ENSG00000198730	ENST00000361367	T	0.52057	0.68	5.62	4.71	0.59529	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.70842	0.3270	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.76846	-0.2808	10	0.56958	D	0.05	-28.0406	15.0528	0.71888	0.0687:0.0:0.9313:0.0	.	376	Q6PD62	CTR9_HUMAN	K	376	ENSP00000355013:E376K	ENSP00000355013:E376K	E	+	1	0	CTR9	10741934	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.674000	0.98633	1.513000	0.48852	0.655000	0.94253	GAA	CTR9	-	pfscan_TPR-contain_dom	ENSG00000198730		0.348	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0	17	0	G	NM_014633		10785358	1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	80.00	1	4	SNP	1.000	A	A	10785358	G	A	10785358	3	1	61	1	0	0	0	0	1	0	0	0	4033	1059	37	1	1160	1	CTR9	11	10785358	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	3843046	10785358	124221158	122	17401											
LRP4	4038	genome.wustl.edu	37	chr11	46911918	46911918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtacatacggcgccCggcatagtcgatggtgaggc	9	6	13	13	4	0	1	0	1	0	0	1	2	0	1	2	4	2	2	2	4	3	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:46911918C>T	ENST00000378623.1	-	14	2067	c.1825G>A	c.(1825-1827)Ggg>Agg	p.G609R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	609					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATACGGCGCCCGGCATAGTCG	0.592											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91	76	81					11																	46911918		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1825G>A	11.37:g.46911918C>T	ENSP00000367888:p.Gly609Arg	942	B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G609R	ENST00000378623.1	37	c.1825	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214828	0.58452	.	.	ENSG00000134569	ENST00000378623	D	0.94613	-3.47	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	N	0.11673	0.155	0.58432	D	0.999998	D	0.53619	0.961	P	0.45946	0.498	D	0.88612	0.3157	10	0.22109	T	0.4	.	20.0529	0.97634	0.0:1.0:0.0:0.0	.	609	O75096	LRP4_HUMAN	R	609	ENSP00000367888:G609R	ENSP00000367888:G609R	G	-	1	0	LRP4	46868494	0.998000	0.40836	0.958000	0.39756	0.992000	0.81027	3.798000	0.55522	2.814000	0.96858	0.591000	0.81541	GGG	LRP4	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0	35	0	C	NM_002334		46911918	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.994	T	T	46911918	C	T	46911918	3	4	61	1	0	0	0	0	1	0	0	0	8994	652	23	1	3992	1	LRP4	11	46911918	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	36126560	46911918	88094598	123	17402											
PCNXL3	399909	genome.wustl.edu	37	chr11	65391694	65391694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgatcgcgtacagccGtcctgtctacttctgcatct	5	13	10	13	3	3	1	0	1	3	0	5	1	4	1	2	1	4	2	2	1	2	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:65391694G>T	ENST00000355703.3	+	14	3112	c.2573G>T	c.(2572-2574)cGt>cTt	p.R858L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	858						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCGTACAGCCGTCCTGTCTAC	0.627																																																	0													58	65	62					11																	65391694		2182	4276	6458	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2573G>T	11.37:g.65391694G>T	ENSP00000347931:p.Arg858Leu		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.R858L	ENST00000355703.3	37	c.2573	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.201051	0.94997	.	.	ENSG00000197136	ENST00000355703	T	0.80214	-1.35	4.75	4.75	0.60458	.	.	.	.	.	D	0.89312	0.6679	M	0.82823	2.61	0.52099	D	0.999948	D	0.60160	0.987	D	0.65010	0.931	D	0.91148	0.4951	9	0.87932	D	0	.	15.2199	0.73303	0.0:0.0:1.0:0.0	.	858	Q9H6A9	PCX3_HUMAN	L	858	ENSP00000347931:R858L	ENSP00000347931:R858L	R	+	2	0	PCNXL3	65148270	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.972000	0.93424	2.199000	0.70637	0.462000	0.41574	CGT	PCNXL3	-	NULL	ENSG00000197136		0.627	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1		0	40	0	G	NM_032223		65391694	1			no_errors	ENST00000355703	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	65391694	G	T	65391694	3	4	61	1	0	0	0	0	1	0	0	0	11632	1145	40	2	2627	2	PCNXL3	11	65391694	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	18479776	65391694	69614822	124	17403											
PCNXL3	399909	genome.wustl.edu	37	chr11	65396307	65396307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcggccatgctgttcGtccaggccctgctctcgggg	4	9	13	15	3	1	1	0	0	1	1	5	1	2	1	3	4	2	3	3	4	0	1	rs111942806	byFrequency	TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:65396307G>C	ENST00000355703.3	+	24	4368	c.3829G>C	c.(3829-3831)Gtc>Ctc	p.V1277L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1277						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CATGCTGTTCGTCCAGGCCCT	0.667																																																	0													33	36	35					11																	65396307		2116	4214	6330	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3829G>C	11.37:g.65396307G>C	ENSP00000347931:p.Val1277Leu		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.V1277L	ENST00000355703.3	37	c.3829	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	14.41	2.525925	0.44969	.	.	ENSG00000197136	ENST00000355703	T	0.07216	3.21	5.25	1.24	0.21308	.	0.215967	0.39407	N	0.001378	T	0.03390	0.0098	N	0.10972	0.075	0.30932	N	0.726802	B;B	0.23490	0.086;0.004	B;B	0.24541	0.054;0.008	T	0.42378	-0.9455	10	0.11794	T	0.64	.	5.6279	0.17492	0.2511:0.1492:0.5997:0.0	.	164;1277	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	L	1277	ENSP00000347931:V1277L	ENSP00000347931:V1277L	V	+	1	0	PCNXL3	65152883	1.000000	0.71417	0.519000	0.27824	0.898000	0.52572	3.215000	0.51169	-0.015000	0.14150	-0.136000	0.14681	GTC	PCNXL3	-	NULL	ENSG00000197136		0.667	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	20	0	G	NM_032223		65396307	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.986	C	C	65396307	G	C	65396307	3	2	61	1	0	0	0	0	1	0	0	0	11632	1145	40	5	3923	5	PCNXL3	11	65396307	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	4613	65396307	69610209	125	17404											
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546613	65546613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccccatccagggctgcccGctgccgcaagccagccagca	7	3	11	20	2	0	0	0	0	0	0	1	0	1	0	7	1	5	4	7	1	1	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:65546613G>A	ENST00000532090.2	-	2	1561	c.1351C>T	c.(1351-1353)Cgg>Tgg	p.R451W		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	451					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						AGGGCTGCCCGCTGCCGCAAG	0.652																																																	0													8	11	10					11																	65546613		1861	4032	5893	SO:0001583	missense	0			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1351C>T	11.37:g.65546613G>A	ENSP00000454303:p.Arg451Trp		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.R451W	ENST00000532090.2	37	c.1351	CCDS58146.1	11																																																																																			AP5B1	-	NULL	ENSG00000254470		0.652	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	-	0	33	0	G	NM_138368		65546613	-1	tier1	-	no_errors	ENST00000532090	ensembl	human	novel	74_37	missense	43.24	21	16	SNP	0.776	A	A	65546613	G	A	65546613	3	1	61	1	0	0	0	0	1	0	0	0	4557	1086	38	1	1289	1	DKFZp761E198	11	65546613	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	150306	65546613	69459903	126	17405											
MRGPRF	116535	genome.wustl.edu	37	chr11	68773591	68773591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaccagaggaccagccCgttgcccaccaggccacaca	14	2	9	16	1	0	1	0	0	0	1	0	3	0	2	6	2	3	1	6	2	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:68773591C>T	ENST00000309099.6	-	3	569	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	MRGPRF_ENST00000441623.1_Missense_Mutation_p.G63R|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	63						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGGACCAGCCCGTTGCCCACC	0.607																																																	0													37	45	43					11																	68773591		2200	4294	6494	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"GPCR / Class A : Orphans"	24828	protein-coding gene	gene with protein product		607233	"G protein-coupled receptor 168", "G protein-coupled receptor 140"	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.187G>A	11.37:g.68773591C>T	ENSP00000309782:p.Gly63Arg		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G63R	ENST00000309099.6	37	c.187	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540717	0.65085	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.12984	2.63;2.63	4.97	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000353	T	0.26846	0.0657	M	0.84683	2.71	0.32003	N	0.603157	P	0.52316	0.952	P	0.49226	0.603	T	0.45848	-0.9233	10	0.87932	D	0	-26.4265	9.7849	0.40670	0.0:0.9013:0.0:0.0987	.	63	Q96AM1	MRGRF_HUMAN	R	63	ENSP00000403660:G63R;ENSP00000309782:G63R	ENSP00000309782:G63R	G	-	1	0	MRGPRF	68530167	0.908000	0.30866	1.000000	0.80357	0.998000	0.95712	0.668000	0.25127	2.309000	0.77851	0.561000	0.74099	GGG	MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172935		0.607	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0	46	0	C	NM_145015		68773591	-1	tier1	-	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	45.83	26	22	SNP	1.000	T	T	68773591	C	T	68773591	3	4	61	1	0	0	0	0	1	0	0	0	9803	652	23	1	848	1	MRGPRF	11	68773591	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	3226978	68773591	66232925	127	17406											
FOLH1B	219595	genome.wustl.edu	37	chr11	89421812	89421812	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaacgacttggaattgcTtcaggcagagcacggtatac	11	10	10	10	2	1	1	1	0	0	1	2	3	2	2	1	3	4	4	1	3	4	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:89421812T>G	ENST00000532352.1	+	0	1482							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTGGAATTGCTTCAGGCAGAG	0.308																																																	0													68	77	74					11																	89421812		2196	4294	6490			0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"prostate specific membrane antigen like protein", "Cell growth-inhibiting gene 26 protein", "glutamate carboxypeptidase III"	609020	"folate hydrolase 2"	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89421812T>G				RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.308	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	-	0	61	0	T	NM_153696		89421812	1	tier1	-	no_errors	ENST00000525540	ensembl	human	known	74_37	rna	61.29	12	19	SNP	0.981	G	G	89421812	T	G	89421812	1	3	61	0	1	0	0	0	0	0	0	0	6002	1596	56	4		4	FOLH1B	11	89421812	RNA	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	20648221	89421812	45584704	128	17407											
MMP10	4319	genome.wustl.edu	37	chr11	102642785	102642785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccttaggctcaactcctgGaaagtcatcagctattagtc	12	11	7	11	0	3	0	3	0	0	0	5	1	4	1	2	2	3	2	2	2	6	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:102642785G>T	ENST00000279441.4	-	9	1324	c.1288C>A	c.(1288-1290)Cca>Aca	p.P430T		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	430					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TCAACTCCTGGAAAGTCATCA	0.393																																																	0													112	98	103					11																	102642785		2203	4299	6502	SO:0001583	missense	0			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"matrix metalloproteinase 10 (stromelysin 2)"	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.1288C>A	11.37:g.102642785G>T	ENSP00000279441:p.Pro430Thr		B2R9X9|Q53HH9	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.P430T	ENST00000279441.4	37	c.1288	CCDS8321.1	11	.	.	.	.	.	.	.	.	.	.	G	14.46	2.540941	0.45280	.	.	ENSG00000166670	ENST00000279441	T	0.03635	3.86	4.1	3.18	0.36537	Hemopexin/matrixin (2);	0.320648	0.22649	N	0.057347	T	0.16896	0.0406	M	0.77712	2.385	0.53688	D	0.999979	D	0.76494	0.999	D	0.83275	0.996	T	0.00581	-1.1660	10	0.66056	D	0.02	.	12.5028	0.55966	0.0826:0.0:0.9174:0.0	.	430	P09238	MMP10_HUMAN	T	430	ENSP00000279441:P430T	ENSP00000279441:P430T	P	-	1	0	MMP10	102147995	1.000000	0.71417	0.977000	0.42913	0.316000	0.28119	3.922000	0.56462	1.034000	0.39945	0.650000	0.86243	CCA	MMP10	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000166670		0.393	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	HGNC	protein_coding	OTTHUMT00000398014.1	-	0	123	0	G			102642785	-1	tier1	-	no_errors	ENST00000279441	ensembl	human	known	74_37	missense	29.00	71	29	SNP	1.000	T	T	102642785	G	T	102642785	3	4	61	1	0	0	0	0	1	0	0	0	9687	1174	41	3	150	3	MMP10	11	102642785	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	13220973	102642785	32363731	129	17408											
CWF19L2	143884	genome.wustl.edu	37	chr11	107200658	107200658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacctttccaaagtaatGagggaatttgtgctgatctt	10	14	9	8	0	1	2	0	2	1	0	2	3	2	3	3	1	2	2	3	1	4	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:107200658G>T	ENST00000282251.5	-	17	2554	c.2527C>A	c.(2527-2529)Cat>Aat	p.H843N		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	843							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCAAAGTAATGAGGGAATTTG	0.383																																																	0													64	60	62					11																	107200658		2201	4297	6498	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2527C>A	11.37:g.107200658G>T	ENSP00000282251:p.His843Asn		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.H843N	ENST00000282251.5	37	c.2527	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177280	0.21787	.	.	ENSG00000152404	ENST00000282251	T	0.29142	1.58	5.75	5.75	0.90469	Cwf19-like protein, C-terminal domain-2 (1);	0.244954	0.48286	D	0.000191	T	0.25531	0.0621	L	0.43923	1.385	0.80722	D	1	B	0.19073	0.033	B	0.19946	0.027	T	0.05835	-1.0861	10	0.14656	T	0.56	-3.1107	12.279	0.54753	0.0766:0.0:0.9234:0.0	.	843	Q2TBE0	C19L2_HUMAN	N	843	ENSP00000282251:H843N	ENSP00000282251:H843N	H	-	1	0	CWF19L2	106705868	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	4.773000	0.62331	2.716000	0.92895	0.655000	0.94253	CAT	CWF19L2	-	pfam_Cwf19-like_C_dom-2	ENSG00000152404		0.383	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0	72	0	G	NM_152434		107200658	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T	T	107200658	G	T	107200658	3	4	61	1	0	0	0	0	1	0	0	0	4081	1290	45	3	165	3	CWF19L2	11	107200658	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	4557873	107200658	27805858	130	17409											
FAM55B	120406	genome.wustl.edu	37	chr11	114550457	114550457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttaattttctggatcatTtacttggcttcaaaagacca	12	16	5	8	0	4	1	2	0	2	1	4	2	4	2	1	2	1	1	1	2	4	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:114550457T>C	ENST00000389586.4	+	2	295	c.105T>C	c.(103-105)atT>atC	p.I35I	NXPE2_ENST00000375475.5_Silent_p.I35I	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	35						integral component of membrane (GO:0016021)											TCTGGATCATTTACTTGGCTT	0.363																																																	0													145	113	123					11																	114550457		692	1590	2282	SO:0001819	synonymous_variant	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"family with sequence similarity 55, member B"	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.105T>C	11.37:g.114550457T>C			Q2NKI8	Silent	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.I35	ENST00000389586.4	37	c.105	CCDS44738.1	11																																																																																			NXPE2	-	NULL	ENSG00000204361		0.363	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NXPE2	HGNC	protein_coding	OTTHUMT00000399181.1	-	0	62	0	T	NM_182495		114550457	1	tier1	-	no_errors	ENST00000389586	ensembl	human	known	74_37	silent	78.79	14	52	SNP	0.008	C	C	114550457	T	C	114550457	2	2	61	1	0	0	0	0	0	0	0	1	5607	1829	64	4		4	FAM55B	11	114550457	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	7349799	114550457	20456059	131	17410											
PAFAH1B2	5049	genome.wustl.edu	37	chr11	117045611	117045611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgctgggattacaggcGtgagtcaccgcaccaggcca	11	6	13	11	2	1	1	1	1	0	0	1	2	1	2	3	3	2	2	3	3	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:117045611G>A	ENST00000419197.2	+	6	538	c.396G>A	c.(394-396)gcG>gcA	p.A132A	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000530272.1_Intron	NM_001184748.1	NP_001171677.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	132					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		gattacaggcgtgagtcaccg	0.532			T	IGH@	MLCLS																																			Dom	yes		11	11q23	5049	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"		L	0																																										SO:0001819	synonymous_variant	0			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"PAF-AH1b alpha 2 subunit"	602508	"platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000419197.2:c.396G>A	11.37:g.117045611G>A			A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	NULL	p.A132	ENST00000419197.2	37	c.396	CCDS53713.1	11																																																																																			PAFAH1B2	-	NULL	ENSG00000168092		0.532	PAFAH1B2-201	KNOWN	basic|CCDS	protein_coding	PAFAH1B2	HGNC	protein_coding		-	0	35	0	G	NM_002572		117045611	1	tier1	-	no_errors	ENST00000419197	ensembl	human	known	74_37	silent	43.75	9	7	SNP	0.002	A	A	117045611	G	A	117045611	2	1	61	1	0	0	0	0	0	0	0	1	11424	1132	40	1		1	PAFAH1B2	11	117045611	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2495154	117045611	17960905	132	17411											
TBCEL	219899	genome.wustl.edu	37	chr11	120916423	120916423	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcaacctagtggaagaagTttcatgcaagtattatgtga	14	12	10	5	0	2	2	2	1	0	1	2	4	2	3	1	1	2	3	1	1	7	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:120916423T>G	ENST00000529397.1	+	2	124	c.24T>G	c.(22-24)agT>agG	p.S8R	TBCEL_ENST00000422003.2_Missense_Mutation_p.S8R	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	8						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTGGAAGAAGTTTCATGCAAG	0.383																																																	0													53	60	58					11																	120916423		2203	4298	6501	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.24T>G	11.37:g.120916423T>G	ENSP00000437184:p.Ser8Arg		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.S8R	ENST00000529397.1	37	c.24	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	T	19.31	3.802133	0.70682	.	.	ENSG00000154114	ENST00000529397;ENST00000528512;ENST00000422003;ENST00000524726	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.61	2.11	0.27256	.	0.137442	0.64402	D	0.000005	T	0.38348	0.1037	L	0.54323	1.7	0.44677	D	0.997669	P	0.52061	0.95	P	0.45099	0.469	T	0.32402	-0.9908	10	0.87932	D	0	-7.003	7.979	0.30172	0.0:0.3761:0.0:0.6239	.	8	Q5QJ74	TBCEL_HUMAN	R	8	ENSP00000437184:S8R;ENSP00000431803:S8R;ENSP00000403925:S8R;ENSP00000432783:S8R	ENSP00000284259:S8R	S	+	3	2	TBCEL	120421633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.583000	0.23849	0.957000	0.37930	0.528000	0.53228	AGT	TBCEL	-	NULL	ENSG00000154114		0.383	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	-	0	83	0	T	NM_152715		120916423	1	tier1	-	no_errors	ENST00000422003	ensembl	human	known	74_37	missense	82.76	10	48	SNP	1.000	G	G	120916423	T	G	120916423	3	3	61	1	0	0	0	0	1	0	0	0	15682	1722	60	4	26	4	TBCEL	11	120916423	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	3870812	120916423	14090093	133	17412											
NTM	50863	genome.wustl.edu	37	chr11	132205042	132205042	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttctcaaattttgatGtgagtgccacttccccaccc	7	13	6	15	0	1	2	1	2	1	0	3	2	2	2	5	0	2	1	5	0	1	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr11:132205042G>A	ENST00000374786.1	+	0	1516				NTM_ENST00000425719.2_3'UTR|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AAATTTTGATGTGAGTGCCAC	0.577																																																	0													79	74	76					11																	132205042		2201	4297	6498	SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"Immunoglobulin superfamily / I-set domain containing"	17941	protein-coding gene	gene with protein product	"neurotrimin", "IgLON family member 2"	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*2G>A	11.37:g.132205042G>A			A0MTT2|Q6UXJ3|Q86VJ9	Splice_Site	SNP	-	NULL	ENST00000374786.1	37	c.NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0	28	0	G	NM_016522		132205042	1	tier1	-	no_errors	ENST00000483174	ensembl	human	putative	74_37	splice_site	33.33	12	6	SNP	1.000	A	A	132205042	G	A	132205042	1	1	61	0	1	0	0	0	0	0	0	0	10738	1392	48	3		3	NTM	11	132205042	3'UTR	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	11288619	132205042	2801474	134	17413											
GUCY2C	2984	genome.wustl.edu	37	chr12	14836151	14836151	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcacatgacaatccaaaacTtccagctgagatcatggggt	13	9	9	10	0	2	2	2	2	0	1	4	3	4	2	2	2	2	1	2	2	3	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr12:14836151T>G	ENST00000261170.3	-	4	572	c.436A>C	c.(436-438)Agt>Cgt	p.S146R	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	146					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AATCCAAAACTTCCAGCTGAG	0.383																																																	0													85	78	80					12																	14836151		2203	4300	6503	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.436A>C	12.37:g.14836151T>G	ENSP00000261170:p.Ser146Arg		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.S146R	ENST00000261170.3	37	c.436	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415057	0.83449	.	.	ENSG00000070019	ENST00000261170	D	0.85411	-1.98	5.46	5.46	0.80206	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91212	0.7231	M	0.75777	2.31	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.91583	0.5280	10	0.56958	D	0.05	.	11.9384	0.52886	0.0:0.0:0.0:1.0	.	146	P25092	GUC2C_HUMAN	R	146	ENSP00000261170:S146R	ENSP00000261170:S146R	S	-	1	0	GUCY2C	14727418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.026000	0.70873	2.077000	0.62373	0.533000	0.62120	AGT	GUCY2C	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000070019		0.383	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	-	0	71	0	T			14836151	-1	tier1	-	no_errors	ENST00000261170	ensembl	human	known	74_37	missense	68.09	15	32	SNP	1.000	G	G	14836151	T	G	14836151	3	3	61	1	0	0	0	0	1	0	0	0	6923	1609	56	4	2881	4	GUCY2C	12	14836151	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09		14836151	119015744	135	17414											
KIF21A	55605	genome.wustl.edu	37	chr12	39725518	39725518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccattgacaggaagtGatctagcaggtatcgggctt	10	10	13	8	1	1	2	0	2	1	0	2	4	1	3	1	3	2	3	1	3	3	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr12:39725518G>T	ENST00000361418.5	-	22	3142	c.3127C>A	c.(3127-3129)Cac>Aac	p.H1043N	KIF21A_ENST00000544797.2_Missense_Mutation_p.H1030N|KIF21A_ENST00000541463.2_Missense_Mutation_p.H1007N|KIF21A_ENST00000395670.3_Missense_Mutation_p.H1043N|KIF21A_ENST00000361961.3_Missense_Mutation_p.H1030N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1043					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GACAGGAAGTGATCTAGCAGG	0.363																																																	0													189	168	175					12																	39725518		2203	4300	6503	SO:0001583	missense	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3127C>A	12.37:g.39725518G>T	ENSP00000354878:p.His1043Asn		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.H1043N	ENST00000361418.5	37	c.3127	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478933	0.63849	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000551066	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	6.07	6.07	0.98685	Prefoldin (1);	0.000000	0.56097	D	0.000030	T	0.81206	0.4774	L	0.37630	1.12	0.80722	D	1	D;D;B;D;D;D	0.76494	0.996;0.996;0.376;0.996;0.999;0.999	D;D;B;D;D;D	0.87578	0.986;0.986;0.145;0.986;0.996;0.998	T	0.74057	-0.3787	10	0.17832	T	0.49	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1030;1007;1043;1030;1043;97	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	N	1030;1043;1043;97;91;1030;1043;1007;64	ENSP00000354851:H1030N;ENSP00000379029:H1043N;ENSP00000448792:H91N;ENSP00000445606:H1030N;ENSP00000354878:H1043N;ENSP00000438075:H1007N;ENSP00000447070:H64N	ENSP00000344501:H1043N	H	-	1	0	KIF21A	38011785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.738000	0.84966	2.885000	0.99019	0.655000	0.94253	CAC	KIF21A	-	superfamily_Prefoldin	ENSG00000139116		0.363	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	-	0	49	0	G	NM_017641		39725518	-1	tier1	-	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	39725518	G	T	39725518	3	4	61	1	0	0	0	0	1	0	0	0	8315	1290	45	3	1965	3	KIF21A	12	39725518	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	24889367	39725518	94126377	136	17415											
DIP2B	57609	genome.wustl.edu	37	chr12	51112540	51112540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatctggttgctggaaaacGtatagcacaagctgctggaa	13	9	12	7	1	1	0	0	0	1	0	1	3	1	2	0	3	5	6	0	3	7	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr12:51112540G>A	ENST00000301180.5	+	24	2934	c.2900G>A	c.(2899-2901)cGt>cAt	p.R967H		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	967						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCTGGAAAACGTATAGCACAA	0.453																																																	0													154	129	137					12																	51112540		2203	4300	6503	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2900G>A	12.37:g.51112540G>A	ENSP00000301180:p.Arg967His		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.R967H	ENST00000301180.5	37	c.2900	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.179710	0.94846	.	.	ENSG00000066084	ENST00000301180	T	0.26223	1.75	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63368	-0.6653	10	0.72032	D	0.01	-13.3974	18.9332	0.92574	0.0:0.0:1.0:0.0	.	967	Q9P265	DIP2B_HUMAN	H	967	ENSP00000301180:R967H	ENSP00000301180:R967H	R	+	2	0	DIP2B	49398807	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.174000	0.94824	2.885000	0.99019	0.655000	0.94253	CGT	DIP2B	-	NULL	ENSG00000066084		0.453	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0	119	0	G	NM_173602		51112540	1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	51112540	G	A	51112540	3	1	61	1	0	0	0	0	1	0	0	0	4542	1145	40	1	2994	1	DIP2B	12	51112540	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	11387022	51112540	82739355	137	17416											
KRR1	11103	genome.wustl.edu	37	chr12	75893716	75893716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgctggccacatcaattTtagtttcagtagaagctaga	12	13	9	7	0	2	3	2	1	0	2	2	3	2	3	1	1	2	4	1	1	5	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr12:75893716T>A	ENST00000229214.4	-	10	1042	c.1019A>T	c.(1018-1020)aAa>aTa	p.K340I	KRR1_ENST00000438169.2_Missense_Mutation_p.K283I|GLIPR1_ENST00000266659.3_3'UTR	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	340	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CACATCAATTTTAGTTTCAGT	0.323																																																	0													90	83	85					12																	75893716		2203	4300	6503	SO:0001583	missense	0			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"HIV-1 rev binding protein 2", "HIV-1 Rev binding protein 2"	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.1019A>T	12.37:g.75893716T>A	ENSP00000229214:p.Lys340Ile		A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.K340I	ENST00000229214.4	37	c.1019	CCDS9012.1	12	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152900	0.78001	.	.	ENSG00000111615	ENST00000229214;ENST00000438169	T;T	0.51325	0.78;0.71	5.64	4.5	0.54988	.	0.090622	0.85682	D	0.000000	T	0.51058	0.1652	N	0.19112	0.55	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.972	T	0.52873	-0.8517	10	0.56958	D	0.05	3.3743	10.4333	0.44419	0.0:0.0771:0.0:0.9229	.	283;340	E7EUQ0;Q13601	.;KRR1_HUMAN	I	340;283	ENSP00000229214:K340I;ENSP00000411740:K283I	ENSP00000229214:K340I	K	-	2	0	KRR1	74179983	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.565000	0.60836	0.982000	0.38575	0.459000	0.35465	AAA	KRR1	-	NULL	ENSG00000111615		0.323	KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRR1	HGNC	protein_coding	OTTHUMT00000405727.1	-	0	50	0	T	NM_007043		75893716	-1	tier1	-	no_errors	ENST00000229214	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	A	A	75893716	T	A	75893716	3	1	61	1	0	0	0	0	1	0	0	0	8473	1841	64	5	130	5	KRR1	12	75893716	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	24781176	75893716	57958179	138	17417											
NAV3	89795	genome.wustl.edu	37	chr12	78444720	78444720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcagtggtaccagtcGattcatccacacagacccct	9	9	7	16	2	1	1	1	0	0	1	5	2	3	1	5	1	1	2	5	1	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr12:78444720G>T	ENST00000397909.2	+	11	2482	c.2309G>T	c.(2308-2310)cGa>cTa	p.R770L	NAV3_ENST00000536525.2_Missense_Mutation_p.R770L|NAV3_ENST00000266692.7_Missense_Mutation_p.R770L|NAV3_ENST00000228327.6_Missense_Mutation_p.R770L|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	770						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R770Q(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGTACCAGTCGATTCATCCAC	0.592										HNSCC(70;0.22)																																							2	Substitution - Missense(2)	prostate(1)|pancreas(1)											70	71	71					12																	78444720		2074	4207	6281	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2309G>T	12.37:g.78444720G>T	ENSP00000381007:p.Arg770Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R770L	ENST00000397909.2	37	c.2309		12	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285764	0.80803	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.32988	1.55;1.55;1.55;1.43	5.79	5.79	0.91817	.	0.000000	0.34411	U	0.003996	T	0.54727	0.1876	L	0.58101	1.795	0.80722	D	1	P;P;D	0.89917	0.956;0.713;1.0	P;B;D	0.87578	0.563;0.163;0.998	T	0.45600	-0.9250	10	0.42905	T	0.14	-12.0344	20.031	0.97536	0.0:0.0:1.0:0.0	.	770;770;770	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	L	770	ENSP00000446132:R770L;ENSP00000381007:R770L;ENSP00000228327:R770L;ENSP00000266692:R770L	ENSP00000228327:R770L	R	+	2	0	NAV3	76968851	1.000000	0.71417	0.162000	0.22713	0.370000	0.29829	9.345000	0.97053	2.735000	0.93741	0.655000	0.94253	CGA	NAV3	-	NULL	ENSG00000067798		0.592	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1		0	42	0	G	NM_001024383		78444720	1			no_errors	ENST00000397909	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	78444720	G	T	78444720	3	4	61	1	0	0	0	0	1	0	0	0	10223	1058	37	2	2351	2	NAV3	12	78444720	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2551004	78444720	55407175	139	17418											
CCDC60	160777	genome.wustl.edu	37	chr12	119866563	119866563	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaaaggaccttatacgaAgccggtgagtgagcccagca	14	6	11	10	2	1	2	1	2	0	0	1	4	1	3	3	2	4	1	3	2	5	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr12:119866563A>C	ENST00000327554.2	+	2	631	c.166A>C	c.(166-168)Agc>Cgc	p.S56R	CCDC60_ENST00000536742.1_Missense_Mutation_p.S56R|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000539847.1_Missense_Mutation_p.S56R|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	56										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCTTATACGAAGCCGGTGAGT	0.483																																																	0													63	55	58					12																	119866563		2203	4299	6502	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.166A>C	12.37:g.119866563A>C	ENSP00000333374:p.Ser56Arg			Missense_Mutation	SNP	NULL	p.S56R	ENST00000327554.2	37	c.166	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559747	0.45590	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.62232	0.29;1.86;0.04	4.54	3.41	0.39046	.	0.722947	0.13281	N	0.399723	T	0.53238	0.1784	L	0.57536	1.79	0.30179	N	0.800564	P	0.34639	0.461	B	0.31812	0.136	T	0.52961	-0.8505	9	.	.	.	-1.7314	6.9135	0.24347	0.8981:0.0:0.1019:0.0	.	56	Q8IWA6	CCD60_HUMAN	R	56	ENSP00000445505:S56R;ENSP00000333374:S56R;ENSP00000443403:S56R	.	S	+	1	0	CCDC60	118350946	0.998000	0.40836	0.991000	0.47740	0.965000	0.64279	3.568000	0.53820	1.078000	0.41014	0.533000	0.62120	AGC	CCDC60	-	NULL	ENSG00000183273		0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	-	0	26	0	A	NM_178499		119866563	1	tier1	-	no_errors	ENST00000327554	ensembl	human	known	74_37	missense	78.95	4	15	SNP	0.992	C	C	119866563	A	C	119866563	3	2	61	1	0	0	0	0	1	0	0	0	2838	72	3	4	172	4	CCDC60	12	119866563	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	41421843	119866563	13985332	140	17419											
WASF3	10810	genome.wustl.edu	37	chr13	27250861	27250862	+	Splice_Site	INS	-	-	GT																															tccctgtccccagatactagINSgtgtgtgtgtgtcactgctc																										TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr13:27250861_27250862insGT	ENST00000335327.5	+	7	894	c.716_716insGT	c.(715-717)agg>aGTgg	p.R239fs	WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	239					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCAGATACTAGGTGTGTGTGTG	0.475																																																	0																																										SO:0001630	splice_region_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.716+1->GT	13.37:g.27250870_27250871dupGT			O94974|Q86VQ2	Frame_Shift_Ins	INS	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.S240fs	ENST00000335327.5	37	c.716_717	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.475	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1		0	83	0	-		Frame_Shift_Ins	27250862	1	tier1		no_errors	ENST00000335327	ensembl	human	known	74_37	frame_shift_ins	20.00	44	11	INS	1.000:1.000	GT	GT	27250862	-	GT	27250861	8	5	61	1	0	1	1	0	0	0	1	0	17303	1014	35	0	734	0	WASF3	13	27250861	Splice_Site	INS	-	TCGA-L5-A4ON-01A-11D-A27G-09		27250861	87919017	141	17420											
FREM2	341640	genome.wustl.edu	37	chr13	39262874	39262874	+	Missense_Mutation	SNP	C	C	T																															caggccctgcaggcagtggtCcgcaaaacttggtcatcagc																										TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr13:39262874C>T	ENST00000280481.7	+	1	1609	c.1393C>T	c.(1393-1395)Ccg>Tcg	p.P465S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	465					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGCAGTGGTCCGCAAAACTT	0.582																																																	0													51	55	54					13																	39262874		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1393C>T	13.37:g.39262874C>T	ENSP00000280481:p.Pro465Ser		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P465S	ENST00000280481.7	37	c.1393	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.048761	0.00394	.	.	ENSG00000150893	ENST00000280481	T	0.16743	2.32	5.6	3.81	0.43845	.	0.505278	0.18484	N	0.139857	T	0.12518	0.0304	L	0.43152	1.355	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36407	-0.9749	10	0.13108	T	0.6	.	7.0062	0.24838	0.0:0.7083:0.0:0.2917	.	465	Q5SZK8	FREM2_HUMAN	S	465	ENSP00000280481:P465S	ENSP00000280481:P465S	P	+	1	0	FREM2	38160874	0.000000	0.05858	0.003000	0.11579	0.315000	0.28087	0.485000	0.22324	0.675000	0.31264	0.561000	0.74099	CCG	FREM2	-	NULL	ENSG00000150893		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	55	0	C	NM_207361		39262874	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.008	T	T	39262874	C	T	39262874	3	4	61	1	0	0	0	0	1	0	0	0	6069	855	30	3	1395	3	FREM2	13	39262874	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	12012013	39262874	75907004	142	17421	70	2									
FREM2	341640	genome.wustl.edu	37	chr13	39262883	39262883	+	Silent	SNP	T	T	C																															caggcagtggtccgcaaaacTtggtcatcagcgatgaggat																										TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr13:39262883T>C	ENST00000280481.7	+	1	1618	c.1402T>C	c.(1402-1404)Ttg>Ctg	p.L468L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	468					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCGCAAAACTTGGTCATCAG	0.587																																																	0													51	53	52					13																	39262883		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1402T>C	13.37:g.39262883T>C			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.L468	ENST00000280481.7	37	c.1402	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.587	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	55	0	T	NM_207361		39262883	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.992	C	C	39262883	T	C	39262883	2	2	61	1	0	0	0	0	0	0	0	1	6069	1606	56	4		4	FREM2	13	39262883	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	9	39262883	75906995	143	17422	70	2									
PCDH17	27253	genome.wustl.edu	37	chr13	58207948	58207948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactacgacaacttctacaCggtggtgactgaccgcccgc	10	7	10	14	4	1	2	0	2	1	0	1	4	1	2	2	2	4	0	2	2	4	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr13:58207948C>T	ENST00000377918.3	+	1	1294	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACTTCTACACGGTGGTGACT	0.682																																					Melanoma(72;952 1291 1619 12849 33676)												0													27	20	22					13																	58207948		2193	4281	6474	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1268C>T	13.37:g.58207948C>T	ENSP00000367151:p.Thr423Met		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T423M	ENST00000377918.3	37	c.1268	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242237	0.39598	.	.	ENSG00000118946	ENST00000377918	T	0.20598	2.06	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.55834	1.745	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06481	-1.0824	9	.	.	.	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	423;423	O14917-2;O14917	.;PCD17_HUMAN	M	423	ENSP00000367151:T423M	.	T	+	2	0	PCDH17	57105949	1.000000	0.71417	0.979000	0.43373	0.174000	0.22865	6.086000	0.71352	2.704000	0.92352	0.650000	0.86243	ACG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	37	0	C	NM_001040429		58207948	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	T	T	58207948	C	T	58207948	3	4	61	1	0	0	0	0	1	0	0	0	11551	536	19	1	1270	1	PCDH17	13	58207948	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	18945065	58207948	56961930	144	17423											
PCDH17	27253	genome.wustl.edu	37	chr13	58209240	58209240	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccactcggatgtccataAttcaggtaggagacttttag	10	12	10	9	1	1	1	1	0	0	1	3	3	2	2	2	3	1	1	2	3	3	5			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr13:58209240A>C	ENST00000377918.3	+	1	2586	c.2560A>C	c.(2560-2562)Att>Ctt	p.I854L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	854					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATGTCCATAATTCAGGTAGG	0.542																																					Melanoma(72;952 1291 1619 12849 33676)												0													37	40	39					13																	58209240		2203	4299	6502	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2560A>C	13.37:g.58209240A>C	ENSP00000367151:p.Ile854Leu		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I854L	ENST00000377918.3	37	c.2560	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	A	3.948	-0.012906	0.07727	.	.	ENSG00000118946	ENST00000377918	T	0.42513	0.97	6.08	6.08	0.98989	.	0.044306	0.85682	D	0.000000	T	0.29190	0.0726	N	0.16790	0.44	0.58432	D	0.99999	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.09818	-1.0657	9	.	.	.	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	854;854	O14917-2;O14917	.;PCD17_HUMAN	L	854	ENSP00000367151:I854L	.	I	+	1	0	PCDH17	57107241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.333000	0.79357	0.482000	0.46254	ATT	PCDH17	-	NULL	ENSG00000118946		0.542	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	85	0	A	NM_001040429		58209240	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	31.71	56	26	SNP	1.000	C	C	58209240	A	C	58209240	3	2	61	1	0	0	0	0	1	0	0	0	11551	101	4	4	2562	4	PCDH17	13	58209240	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	1292	58209240	56960638	145	17424											
OR4K13	390433	genome.wustl.edu	37	chr14	20502358	20502358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaggtgtccttgcaggcaAgtttaatcacaaggggaagg	11	10	14	6	0	1	0	1	0	0	0	2	1	2	1	1	5	1	4	1	5	5	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr14:20502358A>G	ENST00000315693.2	-	1	561	c.560T>C	c.(559-561)cTt>cCt	p.L187P	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTTGCAGGCAAGTTTAATCAC	0.488																																																	0													121	116	118					14																	20502358		2203	4300	6503	SO:0001583	missense	0				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.560T>C	14.37:g.20502358A>G	ENSP00000319322:p.Leu187Pro		Q6IF13	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L187P	ENST00000315693.2	37	c.560	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	13.53	2.265888	0.40095	.	.	ENSG00000176253	ENST00000315693	T	0.00411	7.53	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34777	U	0.003700	T	0.02230	0.0069	H	0.98664	4.295	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.02893	-1.1097	10	0.87932	D	0	.	11.0505	0.47884	1.0:0.0:0.0:0.0	.	187	Q8NH42	OR4KD_HUMAN	P	187	ENSP00000319322:L187P	ENSP00000319322:L187P	L	-	2	0	OR4K13	19572198	0.996000	0.38824	0.994000	0.49952	0.157000	0.22087	7.777000	0.85628	1.434000	0.47414	0.421000	0.28195	CTT	OR4K13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176253		0.488	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	HGNC	protein_coding	OTTHUMT00000410344.1	-	0	51	0	A			20502358	-1	tier1	-	no_errors	ENST00000315693	ensembl	human	known	74_37	missense	62.50	15	25	SNP	0.983	G	G	20502358	A	G	20502358	3	3	61	1	0	0	0	0	1	0	0	0	11107	72	3	4	356	4	OR4K13	14	20502358	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09		20502358	86847182	146	17425											
OR4M2	390538	genome.wustl.edu	37	chr15	22368885	22368885	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattgcacagctcttcttcTtacactttgctggggcttcg	5	15	9	12	1	3	0	0	0	3	0	4	0	3	0	0	2	4	5	0	2	1	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr15:22368885T>G	ENST00000332663.2	+	1	408	c.310T>G	c.(310-312)Tta>Gta	p.L104V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCTCTTCTTCTTACACTTTGC	0.453																																																	0													299	251	267					15																	22368885		2203	4300	6503	SO:0001583	missense	0			AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"GPCR / Class A : Olfactory receptors"	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.310T>G	15.37:g.22368885T>G	ENSP00000329467:p.Leu104Val		B9EH16|Q6IEY2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L104V	ENST00000332663.2	37	c.310	CCDS32172.1	15	.	.	.	.	.	.	.	.	.	.	.	9.585	1.124499	0.20959	.	.	ENSG00000182974	ENST00000332663	T	0.00481	7.11	2.5	0.115	0.14643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37530	N	0.002049	T	0.00271	0.0008	N	0.14661	0.345	0.09310	N	1	P	0.44478	0.836	P	0.48227	0.571	T	0.40270	-0.9572	10	0.05959	T	0.93	-10.155	5.6261	0.17482	0.0:0.2915:0.0:0.7085	.	104	Q8NGB6	OR4M2_HUMAN	V	104	ENSP00000329467:L104V	ENSP00000329467:L104V	L	+	1	2	OR4M2	19870249	0.000000	0.05858	0.973000	0.42090	0.815000	0.46073	-0.267000	0.08619	0.220000	0.20860	0.368000	0.22195	TTA	OR4M2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182974		0.453	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	OR4M2	HGNC	protein_coding	OTTHUMT00000414921.1	-	0	291	0	T			22368885	1	tier1	-	no_errors	ENST00000332663	ensembl	human	putative	74_37	missense	8.10	261	23	SNP	0.049	G	G	22368885	T	G	22368885	3	3	61	1	0	0	0	0	1	0	0	0	11115	1606	56	4	312	4	OR4M2	15	22368885	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09		22368885	80162507	147	17426											
SCAPER	49855	genome.wustl.edu	37	chr15	76958128	76958128	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttcttcaaggaaagatgCtcctgcaagataaataaata	17	11	6	7	0	2	2	1	0	1	2	3	3	3	3	1	1	3	2	1	1	9	6	rs202054995		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr15:76958128C>T	ENST00000563290.1	-	21	2606	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	SCAPER_ENST00000538941.2_Silent_p.E591E|SCAPER_ENST00000324767.7_Silent_p.E837E			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	837						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGGAAAGATGCTCCTGCAAGa	0.303													C|||	1	0.000199681	0	0	5008	,	,		15431	0		0.001	False		,,,				2504	0																0								C	,	0,3408		0,0,1704	22	18	19		1773,2511	2.5	1	15		19	3,7651		0,3,3824	no	coding-synonymous,coding-synonymous	SCAPER	NM_001145923.1,NM_020843.2	,	0,3,5528	TT,TC,CC		0.0392,0.0,0.0271	,	591/1155,837/1401	76958128	3,11059	1704	3827	5531	SO:0001819	synonymous_variant	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2511G>A	15.37:g.76958128C>T			F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	smart_Znf_U1	p.E837	ENST00000563290.1	37	c.2511	CCDS53962.1	15																																																																																			SCAPER	-	NULL	ENSG00000140386		0.303	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0	27	0	C	NM_020843		76958128	-1	tier1	rs202054995	no_errors	ENST00000324767	ensembl	human	known	74_37	silent	38.89	11	7	SNP	1.000	T	T	76958128	C	T	76958128	2	4	61	1	0	0	0	0	0	0	0	1	13923	796	28	3		3	SCAPER	15	76958128	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	54589243	76958128	25573264	148	17427											
AGBL1	123624	genome.wustl.edu	37	chr15	86807505	86807505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggaactgcagtccaaacTtggagatgatttgaactctg	13	10	11	7	0	1	3	0	2	1	1	2	6	2	4	1	2	4	1	1	2	4	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr15:86807505T>G	ENST00000441037.2	+	10	1060	c.965T>G	c.(964-966)cTt>cGt	p.L322R	AGBL1_ENST00000389298.3_Missense_Mutation_p.L53R|AGBL1_ENST00000421325.2_Missense_Mutation_p.L322R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	322					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAGTCCAAACTTGGAGATGAT	0.453																																																	0													39	42	41					15																	86807505		2178	4292	6470	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.965T>G	15.37:g.86807505T>G	ENSP00000413001:p.Leu322Arg		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.L322R	ENST00000441037.2	37	c.965	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	T	3.977	-0.007210	0.07773	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10005	2.92;2.95	4.92	-6.28	0.02020	Armadillo-type fold (1);	3.151850	0.00691	N	0.000731	T	0.04407	0.0121	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.29805	0.257;0.257;0.037	B;B;B	0.29077	0.069;0.098;0.043	T	0.28490	-1.0042	10	0.17369	T	0.5	4.7957	8.6604	0.34088	0.0:0.4614:0.3348:0.2038	.	21;53;322	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	R	351;322;53	ENSP00000397173:L322R;ENSP00000373949:L53R	ENSP00000373949:L53R	L	+	2	0	AGBL1	84608509	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.662000	0.05305	-1.047000	0.03242	-1.140000	0.01884	CTT	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	36	0	T	NM_152336		86807505	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	70.83	7	17	SNP	0.001	G	G	86807505	T	G	86807505	3	3	61	1	0	0	0	0	1	0	0	0	375	1609	56	4	999	4	AGBL1	15	86807505	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	9849377	86807505	15723887	149	17428											
SSTR5	6755	genome.wustl.edu	37	chr16	1129924	1129924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgccacccgcgcaccgCgccgcagccaacgggcttat	7	3	11	20	7	0	0	0	0	0	0	0	0	0	0	6	1	2	3	6	1	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:1129924C>T	ENST00000293897.4	+	1	1144	c.1056C>T	c.(1054-1056)cgC>cgT	p.R352R	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.R352R|SSTR5-AS1_ENST00000569832.1_RNA	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	352				PPAHR -> RPRT (in Ref. 1; AAA20828). {ECO:0000305}.	G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CCGCGCACCGCGCCGCAGCCA	0.711																																																	0													14	14	14					16																	1129924		2162	4262	6424	SO:0001819	synonymous_variant	0			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"GPCR / Class A : Somatostatin receptors"	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.1056C>T	16.37:g.1129924C>T			P34988|Q541E0|Q9UJI5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.R352	ENST00000293897.4	37	c.1056	CCDS10429.1	16																																																																																			SSTR5	-	NULL	ENSG00000162009		0.711	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR5	HGNC	protein_coding	OTTHUMT00000420836.1	-	0	31	0	C			1129924	1	tier1	-	no_errors	ENST00000293897	ensembl	human	known	74_37	silent	46.00	27	23	SNP	0.000	T	T	1129924	C	T	1129924	2	4	61	1	0	0	0	0	0	0	0	1	15248	755	27	1		1	SSTR5	16	1129924	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09		1129924	89224829	150	17429											
CACNA1H	8912	genome.wustl.edu	37	chr16	1254037	1254037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggcccctggccatctgtCgggcctcagtgtgccctgcc	3	8	12	18	1	2	0	1	0	1	0	3	0	2	0	7	3	2	0	7	3	0	0	rs181892888	byFrequency	TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:1254037C>T	ENST00000348261.5	+	10	2278	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.S677L|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000565831.1_Missense_Mutation_p.S677L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	677					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GGCCATCTGTCGGGCCTCAGT	0.706													C|||	17	0.00339457	8e-04	0	5008	,	,		14190	0.0159		0	False		,,,				2504	0																0								C	LEU/SER,LEU/SER	1,3713		0,1,1856	5	6	6		2030,2030	4.3	0.9	16		6	0,8092		0,0,4046	yes	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	145,145	0,1,5902	TT,TC,CC		0.0,0.0269,0.0085	probably-damaging,probably-damaging	677/2348,677/2354	1254037	1,11805	1857	4046	5903	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2030C>T	16.37:g.1254037C>T	ENSP00000334198:p.Ser677Leu		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.S677L	ENST00000348261.5	37	c.2030	CCDS45375.1	16	8	0.003663003663003663	1	0.0020325203252032522	0	0.0	7	0.012237762237762238	0	0.0	C	13.76	2.333523	0.41297	2.69E-4	0.0	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96619	-4.07;-4.02	4.29	4.29	0.51040	.	4.674440	0.00357	N	0.000027	D	0.94663	0.8279	L	0.36672	1.1	0.36662	D	0.878007	P;D	0.63046	0.915;0.992	B;P	0.49853	0.132;0.624	D	0.87742	0.2586	10	0.36615	T	0.2	.	15.9081	0.79447	0.0:1.0:0.0:0.0	.	677;677	O95180-2;O95180	.;CAC1H_HUMAN	L	677	ENSP00000334198:S677L;ENSP00000351401:S677L	ENSP00000334198:S677L	S	+	2	0	CACNA1H	1194038	0.996000	0.38824	0.944000	0.38274	0.159000	0.22180	6.911000	0.75746	2.233000	0.73108	0.561000	0.74099	TCG	CACNA1H	-	NULL	ENSG00000196557		0.706	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0	21	0	C	NM_001005407		1254037	1			no_errors	ENST00000348261	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.999	T	T	1254037	C	T	1254037	3	4	61	1	0	0	0	0	1	0	0	0	2552	893	31	1	2064	1	CACNA1H	16	1254037	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	124113	1254037	89100716	151	17430											
TIGD7	91151	genome.wustl.edu	37	chr16	3350227	3350227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaattgcatgccgatttcGaaatctaaaaagccaaccag	15	8	6	12	2	1	0	0	0	1	0	2	2	1	0	4	0	4	1	4	0	6	3			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:3350227G>A	ENST00000396862.1	-	2	2216	c.388C>T	c.(388-390)Cga>Tga	p.R130*	TIGD7_ENST00000268674.2_Nonsense_Mutation_p.R130*|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	130	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGCCGATTTCGAAATCTAAAA	0.458																																																	0													100	98	99					16																	3350227		2197	4300	6497	SO:0001587	stop_gained	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.388C>T	16.37:g.3350227G>A	ENSP00000380071:p.Arg130*		Q9BXZ0	Nonsense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.R130*	ENST00000396862.1	37	c.388	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	G	9.900	1.206659	0.22205	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	.	.	.	4.59	3.63	0.41609	.	0.228496	0.22254	U	0.062517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.4314	0.32759	0.1091:0.0:0.8909:0.0	.	.	.	.	X	130	.	ENSP00000268674:R130X	R	-	1	2	TIGD7	3290228	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	-0.034000	0.12225	0.918000	0.36919	0.655000	0.94253	CGA	TIGD7	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000140993		0.458	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	-	0	38	0	G	NM_033208		3350227	-1	tier1	-	no_errors	ENST00000268674	ensembl	human	known	74_37	nonsense	12.82	34	5	SNP	1.000	A	A	3350227	G	A	3350227	4	1	61	1	0	0	0	0	0	1	0	0	15948	1066	37	1	1265	1	TIGD7	16	3350227	Nonsense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	2096190	3350227	87004526	152	17431											
PRSS36	146547	genome.wustl.edu	37	chr16	31155123	31155123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctggaaccagcggccGccttcctcacagaccagggg	7	5	12	17	2	1	1	1	0	0	1	2	2	2	2	7	4	3	0	7	4	1	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:31155123G>A	ENST00000268281.4	-	7	814	c.756C>T	c.(754-756)ggC>ggT	p.G252G	PRSS36_ENST00000418068.2_Silent_p.G252G|PRSS36_ENST00000569305.1_Silent_p.G252G	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	252	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						ACCAGCGGCCGCCTTCCTCAC	0.597																																																	0													38	42	41					16																	31155123		2197	4299	6496	SO:0001819	synonymous_variant	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.756C>T	16.37:g.31155123G>A			A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G252	ENST00000268281.4	37	c.756	CCDS32436.1	16																																																																																			PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.597	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	-	0	37	0	G	NM_173502		31155123	-1	tier1	-	no_errors	ENST00000268281	ensembl	human	known	74_37	silent	24.32	28	9	SNP	0.000	A	A	31155123	G	A	31155123	2	1	61	1	0	0	0	0	0	0	0	1	12667	1074	38	1		1	PRSS36	16	31155123	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	27804896	31155123	59199630	153	17432											
NETO2	81831	genome.wustl.edu	37	chr16	47156609	47156609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggtccagatgcaatcaaCggcttggcctggttttgttt	8	14	11	8	1	1	1	1	0	0	1	2	1	2	1	2	4	2	4	2	4	3	4	rs139362451	byFrequency	TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:47156609C>A	ENST00000562435.1	-	6	997	c.613G>T	c.(613-615)Gtt>Ttt	p.V205F	NETO2_ENST00000303155.5_Missense_Mutation_p.V198F|snoU13_ENST00000458876.1_RNA	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	205	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ATGCAATCAACGGCTTGGCCT	0.433										HNSCC(25;0.065)																																							0													170	137	148					16																	47156609		2203	4300	6503	SO:0001583	missense	0			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.613G>T	16.37:g.47156609C>A	ENSP00000455169:p.Val205Phe		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.V205F	ENST00000562435.1	37	c.613	CCDS10727.1	16	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804413	0.50315	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.64	4.69	0.59074	CUB (5);	0.142201	0.48286	D	0.000195	T	0.72859	0.3513	M	0.73598	2.24	0.49130	D	0.999751	P;P;P	0.43885	0.796;0.681;0.82	P;P;P	0.55345	0.774;0.493;0.574	T	0.75141	-0.3422	9	0.66056	D	0.02	.	10.2973	0.43631	0.0:0.7946:0.1346:0.0709	.	62;198;205	B7Z4I7;Q32NC3;Q8NC67	.;.;NETO2_HUMAN	F	205	.	ENSP00000306726:V205F	V	-	1	0	NETO2	45714110	0.656000	0.27385	0.865000	0.33974	0.134000	0.20937	1.205000	0.32308	1.391000	0.46566	-0.157000	0.13467	GTT	NETO2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000171208		0.433	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NETO2	HGNC	protein_coding	OTTHUMT00000256766.2		0	24	0	C	NM_018092		47156609	-1			no_errors	ENST00000562435	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.970	A	A	47156609	C	A	47156609	3	1	61	1	0	0	0	0	1	0	0	0	10379	536	19	2	980	2	NETO2	16	47156609	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	16001486	47156609	43198144	154	17433											
COG8	84342	genome.wustl.edu	37	chr16	69368468	69368468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcacatcctgcgccaGggccacagggcagcagaggc	9	3	13	16	1	1	1	1	0	0	1	2	1	2	1	4	3	2	2	4	3	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:69368468G>A	ENST00000306875.4	-	3	1483	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	RP11-343C2.12_ENST00000562949.1_Silent_p.L103L|COG8_ENST00000562081.1_Silent_p.L457L	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	457					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCCTGCGCCAGGGCCACAGGG	0.572																																																	0													50	48	49					16																	69368468		2198	4300	6498	SO:0001819	synonymous_variant	0			AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"Components of oligomeric golgi complex"	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1369C>T	16.37:g.69368468G>A			Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant	p.L457	ENST00000306875.4	37	c.1369	CCDS10876.1	16																																																																																			COG8	-	pirsf_COG8_Metazoal_Plant	ENSG00000213380		0.572	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG8	HGNC	protein_coding	OTTHUMT00000268948.2		0	13	0	G	NM_032382		69368468	-1			no_errors	ENST00000306875	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	A	A	69368468	G	A	69368468	2	1	61	1	0	0	0	0	0	0	0	1	3671	991	35	3		3	COG8	16	69368468	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	22211859	69368468	20986285	155	17434											
ANKRD11	29123	genome.wustl.edu	37	chr16	89348236	89348236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcgccgtcccccaggaGcttctccctgggcctggcgt	3	8	13	17	3	1	0	0	0	1	0	4	1	2	1	5	4	1	1	5	4	0	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:89348236G>T	ENST00000301030.4	-	9	5174	c.4714C>A	c.(4714-4716)Ctc>Atc	p.L1572I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L1572I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1572	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L1572F(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCCCCCAGGAGCTTCTCCCTG	0.577																																																	1	Substitution - Missense(1)	breast(1)											69	61	64					16																	89348236		2198	4300	6498	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4714C>A	16.37:g.89348236G>T	ENSP00000301030:p.Leu1572Ile		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L1572I	ENST00000301030.4	37	c.4714	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694069	0.48202	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.44482	0.92;0.92	5.08	4.01	0.46588	.	0.000000	0.64402	D	0.000011	T	0.37293	0.0998	N	0.14661	0.345	0.80722	D	1	D	0.58620	0.983	P	0.53988	0.739	T	0.13229	-1.0517	10	0.34782	T	0.22	.	12.7855	0.57502	0.0876:0.0:0.9124:0.0	.	1572	Q6UB99	ANR11_HUMAN	I	1572	ENSP00000301030:L1572I;ENSP00000367581:L1572I	ENSP00000301030:L1572I	L	-	1	0	ANKRD11	87875737	1.000000	0.71417	0.994000	0.49952	0.686000	0.39977	6.162000	0.71874	0.968000	0.38212	0.462000	0.41574	CTC	ANKRD11	-	NULL	ENSG00000167522		0.577	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3		0	35	0	G	NM_013275		89348236	-1			no_errors	ENST00000301030	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	89348236	G	T	89348236	3	4	61	1	0	0	0	0	1	0	0	0	639	971	34	3	3297	3	ANKRD11	16	89348236	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	19979768	89348236	1006517	156	17435											
FANCA	2175	genome.wustl.edu	37	chr16	89811415	89811415	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgcagttcccggggcAgcgggctctggcagtgtctc	3	10	15	13	2	3	0	0	0	3	0	5	0	4	0	1	4	2	6	1	4	0	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr16:89811415A>C	ENST00000389301.3	-	36	3608	c.3578T>G	c.(3577-3579)cTg>cGg	p.L1193R	FANCA_ENST00000568369.1_Missense_Mutation_p.L1193R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1193					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTCCCGGGGCAGCGGGCTCTG	0.647			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													49	44	45					16																	89811415		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3578T>G	16.37:g.89811415A>C	ENSP00000373952:p.Leu1193Arg		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.L1193R	ENST00000389301.3	37	c.3578	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811502	0.70797	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.93604	-3.25	4.44	4.44	0.53790	.	0.000000	0.44902	D	0.000408	D	0.96081	0.8723	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	D	0.96309	0.9227	10	0.87932	D	0	-15.1277	11.7291	0.51726	1.0:0.0:0.0:0.0	.	170;1193;1193	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	R	1193;170	ENSP00000373952:L1193R	ENSP00000306281:L170R	L	-	2	0	FANCA	88338916	0.997000	0.39634	0.788000	0.31933	0.138000	0.21146	5.539000	0.67199	1.780000	0.52325	0.374000	0.22700	CTG	FANCA	-	NULL	ENSG00000187741		0.647	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	-	0	49	0	A			89811415	-1	tier1	-	no_errors	ENST00000389301	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.900	C	C	89811415	A	C	89811415	3	2	61	1	0	0	0	0	1	0	0	0	5684	188	7	4	821	4	FANCA	16	89811415	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	463179	89811415	543338	157	17436											
POLR2A	5430	genome.wustl.edu	37	chr17	7402772	7402772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggacacactcacagcaGtgcgcaaattcaccaagaga	15	5	9	12	1	2	1	2	0	0	1	2	3	2	2	1	1	3	3	1	1	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr17:7402772G>A	ENST00000322644.6	+	10	2032	c.1633G>A	c.(1633-1635)Gtg>Atg	p.V545M	POLR2A_ENST00000572844.1_Missense_Mutation_p.V545M	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	545					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACTCACAGCAGTGCGCAAATT	0.577																																																	0													107	94	98					17																	7402772		2203	4300	6503	SO:0001583	missense	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.1633G>A	17.37:g.7402772G>A	ENSP00000314949:p.Val545Met		A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.V545M	ENST00000322644.6	37	c.1633	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.143956	0.94603	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.79247	-1.25	6.04	6.04	0.98038	RNA polymerase Rpb1, domain 3 (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90642	0.7065	M	0.92367	3.3	0.80722	D	1	P;D	0.59767	0.889;0.986	P;P	0.62885	0.643;0.908	D	0.91960	0.5578	10	0.87932	D	0	-11.2144	19.3663	0.94464	0.0:0.0:1.0:0.0	.	545;545	P24928;Q6NX41	RPB1_HUMAN;.	M	501;545	ENSP00000314949:V545M	ENSP00000314949:V545M	V	+	1	0	SLC35G6	7343496	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.165000	0.94761	2.873000	0.98535	0.563000	0.77884	GTG	POLR2A	-	pfam_RNA_pol_Rpb1_3,smart_RNA_pol_N	ENSG00000181222		0.577	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	-	0	26	0	G	NM_000937		7402772	1	tier1	-	no_errors	ENST00000322644	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	A	A	7402772	G	A	7402772	3	1	61	1	0	0	0	0	1	0	0	0	12253	1029	36	3	1671	3	POLR2A	17	7402772	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		7402772	73792438	158	17437											
TP53	7157	genome.wustl.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	416	0	G	NM_000546		7577121	-1	tier1	rs121913343	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	72.41	79	210	SNP	0.830	A	A	7577121	G	A	7577121	3	1	61	1	0	0	0	0	1	0	0	0	16429	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	174349	7577121	73618089	159	17438											
RNF43	54894	genome.wustl.edu	37	chr17	56435892	56435892	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtggctcagtccccaGccttgtgcataggggtgctg	5	10	16	10	0	1	0	1	0	0	0	2	1	2	1	3	5	3	3	3	5	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr17:56435892G>T	ENST00000584437.1	-	8	3200	c.1245C>A	c.(1243-1245)ggC>ggA	p.G415G	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Silent_p.G288G|RNF43_ENST00000407977.2_Silent_p.G415G|RNF43_ENST00000500597.2_Silent_p.G374G|RNF43_ENST00000577625.1_Silent_p.G288G|RNF43_ENST00000583753.1_Silent_p.G374G|RNF43_ENST00000577716.1_Silent_p.G415G			Q68DV7	RNF43_HUMAN	ring finger protein 43	415					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGTCCCCAGCCTTGTGCAT	0.672																																																	0													30	32	31					17																	56435892		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1245C>A	17.37:g.56435892G>T			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.G415	ENST00000584437.1	37	c.1245	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.672	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0	65	0	G	NM_017763		56435892	-1	tier1	-	no_errors	ENST00000407977	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.924	T	T	56435892	G	T	56435892	2	4	61	1	0	0	0	0	0	0	0	1	13540	958	34	3		3	RNF43	17	56435892	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	48858771	56435892	24759318	160	17439											
BRIP1	83990	genome.wustl.edu	37	chr17	59885878	59885878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttctgttgaagttacCgactacctcaggatggacac	10	12	8	11	1	3	1	2	1	1	0	3	4	3	3	2	2	2	2	2	2	3	4	rs145601931		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr17:59885878C>T	ENST00000259008.2	-	7	1135	c.868G>A	c.(868-870)Ggt>Agt	p.G290S	BRIP1_ENST00000577598.1_Missense_Mutation_p.G290S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	290	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTGAAGTTACCGACTACCTCA	0.403			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0								C	SER/GLY	0,4406		0,0,2203	125	114	118		868	4.3	0.9	17	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	BRIP1	NM_032043.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	290/1250	59885878	1,13005	2203	4300	6503	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.868G>A	17.37:g.59885878C>T	ENSP00000259008:p.Gly290Ser		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.G290S	ENST00000259008.2	37	c.868	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	5.895	0.349201	0.11182	0.0	1.16E-4	ENSG00000136492	ENST00000259008	T	0.69926	-0.44	5.29	4.32	0.51571	DEAD-like helicase (1);DEAD2 (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.294904	0.39759	N	0.001276	T	0.37758	0.1015	N	0.04203	-0.255	0.25962	N	0.982616	P	0.46912	0.886	B	0.38156	0.266	T	0.18429	-1.0337	9	.	.	.	-4.5077	8.0862	0.30773	0.0:0.8079:0.0:0.1921	.	290	Q9BX63	FANCJ_HUMAN	S	290	ENSP00000259008:G290S	.	G	-	1	0	BRIP1	57240660	0.928000	0.31464	0.946000	0.38457	0.470000	0.32858	2.809000	0.47971	1.371000	0.46172	-0.244000	0.11960	GGT	BRIP1	-	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000136492		0.403	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1		0	40	0	C	NM_032043		59885878	-1			no_errors	ENST00000259008	ensembl	human	known	74_37	missense	5.41	34	2	SNP	0.920	T	T	59885878	C	T	59885878	3	4	61	1	0	0	0	0	1	0	0	0	1518	652	23	1	2937	1	BRIP1	17	59885878	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	3449986	59885878	21309332	161	17440											
EPB41L3	23136	genome.wustl.edu	37	chr18	5394763	5394763	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatgtcagggtgctgctcTttggcctctttaattgcctg	5	15	11	10	0	3	0	1	0	2	0	3	1	3	0	2	2	3	2	2	2	1	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr18:5394763T>C	ENST00000341928.2	-	22	3523	c.3183A>G	c.(3181-3183)aaA>aaG	p.K1061K	EPB41L3_ENST00000427684.2_Silent_p.K358K|EPB41L3_ENST00000542146.1_Silent_p.K366K|EPB41L3_ENST00000342933.3_Silent_p.K1061K|EPB41L3_ENST00000540638.2_Silent_p.K839K|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Silent_p.K839K|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1061	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGCTGCTCTTTGGCCTCTT	0.502																																																	0													212	174	187					18																	5394763		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3183A>G	18.37:g.5394763T>C			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.K1061	ENST00000341928.2	37	c.3183	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein,pfam_Band_4.1_C	ENSG00000082397		0.502	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	57	0	T	NM_012307		5394763	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	silent	64.95	34	63	SNP	1.000	C	C	5394763	T	C	5394763	2	2	61	1	0	0	0	0	0	0	0	1	5170	1606	56	4		4	EPB41L3	18	5394763	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09		5394763	72682485	162	17441											
LAMA1	284217	genome.wustl.edu	37	chr18	7050932	7050932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgacatatgcaacttgaaAgacctgaaacaaagacactg	18	7	8	8	0	0	5	0	3	0	2	0	6	0	5	1	0	3	1	1	0	5	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr18:7050932A>G	ENST00000389658.3	-	4	442	c.349T>C	c.(349-351)Ttt>Ctt	p.F117L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	117	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCAACTTGAAAGACCTGAAAC	0.448																																																	0													52	46	48					18																	7050932		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.349T>C	18.37:g.7050932A>G	ENSP00000374309:p.Phe117Leu			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.F117L	ENST00000389658.3	37	c.349	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	A	29.6	5.018577	0.93404	.	.	ENSG00000101680	ENST00000389658	D	0.81996	-1.56	5.96	5.96	0.96718	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.86178	2.8	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.93101	0.6508	10	0.87932	D	0	.	16.4484	0.83959	1.0:0.0:0.0:0.0	.	117	P25391	LAMA1_HUMAN	L	117	ENSP00000374309:F117L	ENSP00000374309:F117L	F	-	1	0	LAMA1	7040932	1.000000	0.71417	0.994000	0.49952	0.839000	0.47603	9.100000	0.94213	2.285000	0.76669	0.533000	0.62120	TTT	LAMA1	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	32	0	A	NM_005559		7050932	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	50.00	17	17	SNP	1.000	G	G	7050932	A	G	7050932	3	3	61	1	0	0	0	0	1	0	0	0	8633	72	3	4	9118	4	LAMA1	18	7050932	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	1656169	7050932	71026316	163	17442											
REXO1	57455	genome.wustl.edu	37	chr19	1828022	1828022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccggggccgcttggCggcccgctcatcccgggagc	3	4	17	17	5	1	0	1	0	0	0	2	2	2	2	5	6	2	2	5	6	0	1	rs375966236	byFrequency	TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:1828022C>T	ENST00000170168.4	-	2	860	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	256						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCTTGGCGGCCCGCTCA	0.657													.|||	3	0.000599042	0.0023	0	5008	,	,		11348	0		0	False		,,,				2504	0																0													17	24	22					19																	1828022		2195	4290	6485	SO:0001583	missense	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.766G>A	19.37:g.1828022C>T	ENSP00000170168:p.Ala256Thr		Q9ULT2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.A256T	ENST00000170168.4	37	c.766	CCDS32866.1	19	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.012672	0.00422	.	.	ENSG00000079313	ENST00000170168;ENST00000413153	T	0.10477	2.87	3.83	-4.62	0.03370	.	1.621800	0.03786	N	0.262050	T	0.02012	0.0063	N	0.00483	-1.445	0.09310	N	1	B;B	0.15930	0.015;0.0	B;B	0.08055	0.003;0.0	T	0.40572	-0.9556	10	0.02654	T	1	-6.2268	2.7457	0.05267	0.0949:0.1908:0.2397:0.4746	.	210;256	F5H016;Q8N1G1	.;REXO1_HUMAN	T	256;210	ENSP00000170168:A256T	ENSP00000170168:A256T	A	-	1	0	REXO1	1779022	0.002000	0.14202	0.612000	0.29024	0.002000	0.02628	-0.512000	0.06313	-0.388000	0.07797	-1.191000	0.01696	GCC	REXO1	-	NULL	ENSG00000079313		0.657	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	-	0	61	0	C	NM_020695		1828022	-1	tier1	-	no_errors	ENST00000170168	ensembl	human	known	74_37	missense	48.61	37	35	SNP	0.002	T	T	1828022	C	T	1828022	3	4	61	1	0	0	0	0	1	0	0	0	13286	768	27	1	2959	1	REXO1	19	1828022	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09		1828022	57300961	164	17443											
ZNRF4	148066	genome.wustl.edu	37	chr19	5455945	5455945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatcccatcgaggcccCgcgactgggcaaccgctctc	6	6	11	18	4	1	0	0	0	1	0	4	2	2	0	5	2	2	2	5	2	1	0	rs374695381		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:5455945C>T	ENST00000222033.4	+	1	520	c.443C>T	c.(442-444)cCg>cTg	p.P148L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	148	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ATCGAGGCCCCGCGACTGGGC	0.692																																																	0								C	LEU/PRO	0,4256		0,0,2128	32	38	36		443	4.7	0.3	19		36	1,8443		0,1,4221	no	missense	ZNRF4	NM_181710.3	98	0,1,6349	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	148/430	5455945	1,12699	2128	4222	6350	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.443C>T	19.37:g.5455945C>T	ENSP00000222033:p.Pro148Leu		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P148L	ENST00000222033.4	37	c.443	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326991	0.41197	0.0	1.18E-4	ENSG00000105428	ENST00000222033	T	0.06142	3.34	4.65	4.65	0.58169	.	0.000000	0.85682	U	0.000000	T	0.27419	0.0673	M	0.84948	2.725	0.52501	D	0.999958	D	0.89917	1.0	D	0.71870	0.975	T	0.05533	-1.0879	10	0.87932	D	0	.	14.2204	0.65823	0.0:1.0:0.0:0.0	.	148	Q8WWF5	ZNRF4_HUMAN	L	148	ENSP00000222033:P148L	ENSP00000222033:P148L	P	+	2	0	ZNRF4	5406945	0.806000	0.28996	0.282000	0.24776	0.109000	0.19521	4.908000	0.63307	2.140000	0.66376	0.491000	0.48974	CCG	ZNRF4	-	NULL	ENSG00000105428		0.692	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	-	0	43	0	C	NM_181710		5455945	1	tier1	-	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.631	T	T	5455945	C	T	5455945	3	4	61	1	0	0	0	0	1	0	0	0	18262	652	23	1	445	1	ZNRF4	19	5455945	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	3627923	5455945	53673038	165	17444											
MUC16	94025	genome.wustl.edu	37	chr19	9070131	9070131	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatgttgattcagtctgaAttctagtctcaaagaaggca	13	12	10	6	0	4	3	2	2	3	1	5	4	4	4	0	2	0	2	0	2	4	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:9070131A>C	ENST00000397910.4	-	3	17518	c.17315T>G	c.(17314-17316)aTt>aGt	p.I5772S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5774	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCAGTCTGAATTCTAGTCTC	0.463																																																	0													162	151	155					19																	9070131		1985	4177	6162	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17315T>G	19.37:g.9070131A>C	ENSP00000381008:p.Ile5772Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I5772S	ENST00000397910.4	37	c.17315	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	2.194	-0.384604	0.04966	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.55	0.504	0.16946	.	.	.	.	.	T	0.02767	0.0083	L	0.43152	1.355	.	.	.	B	0.22983	0.078	B	0.15052	0.012	T	0.34004	-0.9846	8	0.87932	D	0	.	3.3096	0.07013	0.7616:0.0:0.2384:0.0	.	5772	B5ME49	.	S	5772	ENSP00000381008:I5772S	ENSP00000381008:I5772S	I	-	2	0	MUC16	8931131	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.328000	0.01112	0.112000	0.17975	0.241000	0.17934	ATT	MUC16	-	NULL	ENSG00000181143		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	98	0	A	NM_024690		9070131	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	36.00	48	27	SNP	0.000	C	C	9070131	A	C	9070131	3	2	61	1	0	0	0	0	1	0	0	0	10011	101	4	4	26536	4	MUC16	19	9070131	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	3614186	9070131	50058852	166	17445											
OR10H4	126541	genome.wustl.edu	37	chr19	16060211	16060211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctgccacccactgCgttacaatgtgctcatgagc	8	10	9	14	1	2	1	1	1	1	0	2	1	2	1	3	1	5	2	3	1	2	1	rs140667599		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:16060211C>T	ENST00000322107.1	+	1	394	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCACCCACTGCGTTACAATGT	0.532																																																	0								C	CYS/ARG	6,4400	12.9+/-30.5	0,6,2197	235	200	212		394	0.4	0.5	19	dbSNP_134	212	0,8600		0,0,4300	yes	missense	OR10H4	NM_001004465.1	180	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	132/317	16060211	6,13000	2203	4300	6503	SO:0001583	missense	0			AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"GPCR / Class A : Olfactory receptors"	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.394C>T	19.37:g.16060211C>T	ENSP00000318834:p.Arg132Cys		Q6IFJ2|Q96R57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R132C	ENST00000322107.1	37	c.394	CCDS32941.1	19	.	.	.	.	.	.	.	.	.	.	c	6.938	0.542926	0.13250	0.001362	0.0	ENSG00000176231	ENST00000322107	T	0.01584	4.75	1.53	0.443	0.16587	GPCR, rhodopsin-like superfamily (1);	0.353956	0.20425	U	0.092583	T	0.03263	0.0095	M	0.84846	2.72	0.35954	D	0.83412	B	0.15719	0.014	B	0.11329	0.006	T	0.09122	-1.0689	10	0.66056	D	0.02	.	5.4472	0.16541	0.0:0.7809:0.0:0.2191	.	132	Q8NGA5	O10H4_HUMAN	C	132	ENSP00000318834:R132C	ENSP00000318834:R132C	R	+	1	0	OR10H4	15921211	0.739000	0.28196	0.456000	0.27044	0.314000	0.28054	1.475000	0.35409	0.828000	0.34709	0.471000	0.43371	CGT	OR10H4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176231		0.532	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H4	HGNC	protein_coding	OTTHUMT00000460311.1	-	0	143	0	C			16060211	1	tier1	rs140667599	no_errors	ENST00000322107	ensembl	human	known	74_37	missense	32.48	106	51	SNP	0.994	T	T	16060211	C	T	16060211	3	4	61	1	0	0	0	0	1	0	0	0	10947	768	27	1	396	1	OR10H4	19	16060211	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	6990080	16060211	43068772	167	17446											
ZNF43	7594	genome.wustl.edu	37	chr19	21990665	21990665	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctccagtatgaattttcTtatgttcaataaggtttgag	10	17	8	6	0	3	2	1	2	2	0	4	2	3	2	1	1	0	4	1	1	5	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:21990665T>G	ENST00000354959.4	-	4	2343	c.2174A>C	c.(2173-2175)aAg>aCg	p.K725T	ZNF43_ENST00000595461.1_Missense_Mutation_p.K719T|ZNF43_ENST00000598381.1_Missense_Mutation_p.K719T|ZNF43_ENST00000594012.1_Missense_Mutation_p.K719T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGAATTTTCTTATGTTCAAT	0.343																																																	0													57	61	60					19																	21990665		2202	4299	6501	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2174A>C	19.37:g.21990665T>G	ENSP00000347045:p.Lys725Thr		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K725T	ENST00000354959.4	37	c.2174	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	T	11.33	1.608092	0.28623	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.51817	0.69	1.76	0.534	0.17127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48786	0.1519	L	0.39514	1.22	0.21802	N	0.99954	D	0.60160	0.987	P	0.62089	0.898	T	0.35276	-0.9795	9	0.72032	D	0.01	.	2.1576	0.03816	0.2548:0.1649:0.0:0.5803	.	725	P17038	ZNF43_HUMAN	T	724;725	ENSP00000347045:K725T	ENSP00000347045:K725T	K	-	2	0	ZNF43	21782505	0.000000	0.05858	0.001000	0.08648	0.808000	0.45660	-0.583000	0.05807	-0.062000	0.13088	0.254000	0.18369	AAG	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.343	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	-	0	49	0	T	NM_003423		21990665	-1	tier1	-	no_errors	ENST00000354959	ensembl	human	known	74_37	missense	22.45	38	11	SNP	0.682	G	G	21990665	T	G	21990665	3	3	61	1	0	0	0	0	1	0	0	0	17951	1609	56	4	259	4	ZNF43	19	21990665	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	5930454	21990665	37138318	168	17447											
ZFP14	57677	genome.wustl.edu	37	chr19	36831221	36831221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtagggcttctcaccagTatgaattctctggtgttgag	7	15	11	8	0	2	2	1	2	2	0	4	2	2	2	1	2	0	4	1	2	3	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:36831221T>C	ENST00000270001.7	-	5	1622	c.1507A>G	c.(1507-1509)Act>Gct	p.T503A		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TTCTCACCAGTATGAATTCTC	0.373																																																	0													70	69	69					19																	36831221		2203	4300	6503	SO:0001583	missense	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"Zinc fingers, C2H2-type", "-"	29312	protein-coding gene	gene with protein product			"zinc finger protein 14 homolog (mouse)"			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.1507A>G	19.37:g.36831221T>C	ENSP00000270001:p.Thr503Ala		A7MD23	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T503A	ENST00000270001.7	37	c.1507	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	t	12.97	2.096921	0.37048	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.26518	1.73	3.93	3.93	0.45458	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000367	T	0.27933	0.0688	M	0.66378	2.025	0.80722	D	1	B;P	0.35923	0.086;0.528	B;B	0.38985	0.117;0.287	T	0.09443	-1.0674	10	0.59425	D	0.04	.	7.1937	0.25841	0.0:0.1053:0.0:0.8947	.	503;503	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	A	503	ENSP00000270001:T503A	ENSP00000270001:T503A	T	-	1	0	ZFP14	41523061	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.553000	0.36255	1.767000	0.52121	0.450000	0.29827	ACT	ZFP14	-	pfscan_Znf_C2H2	ENSG00000142065		0.373	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	-	0	45	0	T	NM_020917		36831221	-1	tier1	-	no_errors	ENST00000270001	ensembl	human	known	74_37	missense	38.71	38	24	SNP	0.988	C	C	36831221	T	C	36831221	3	2	61	1	0	0	0	0	1	0	0	0	17687	1638	57	4	98	4	ZFP14	19	36831221	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	14840556	36831221	22297762	169	17448											
ZNF829	374899	genome.wustl.edu	37	chr19	37383030	37383030	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaatatgaactacaactAaaagccttgccacattcctt	17	10	4	10	0	0	1	0	1	0	0	1	2	1	1	3	0	5	0	3	0	8	6			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:37383030A>T	ENST00000391711.3	-	6	1027	c.663T>A	c.(661-663)ttT>ttA	p.F221L	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.F302L|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACTACAACTAAAAGCCTTGC	0.403																																																	0													65	68	67					19																	37383030		2198	4297	6495	SO:0001583	missense	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.663T>A	19.37:g.37383030A>T	ENSP00000429266:p.Phe221Leu		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F302L	ENST00000391711.3	37	c.906	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	A	18.03	3.531551	0.64972	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.46063	0.88	3.3	-0.127	0.13510	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.64549	0.2608	M	0.89163	3.01	0.25554	N	0.987056	D	0.89917	1.0	D	0.77557	0.99	T	0.53746	-0.8395	9	0.87932	D	0	.	7.7966	0.29150	0.5826:0.0:0.4174:0.0	.	221	Q3KNS6	ZN829_HUMAN	L	221	ENSP00000429266:F221L	ENSP00000429266:F221L	F	-	3	2	ZNF829	42074870	0.001000	0.12720	0.997000	0.53966	0.998000	0.95712	-0.180000	0.09754	-0.112000	0.11979	0.528000	0.53228	TTT	ZNF829	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.403	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	60	0	A	NM_001037232		37383030	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.930	T	T	37383030	A	T	37383030	3	4	61	1	0	0	0	0	1	0	0	0	18230	359	13	5	639	5	ZNF829	19	37383030	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	551809	37383030	21745953	170	17449											
PSG3	5671	genome.wustl.edu	37	chr19	43237052	43237052	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaaagagggtccttttgTttttggacaactgcaagctg	11	13	11	6	0	0	2	0	0	0	2	1	3	1	3	1	2	3	3	1	2	4	5	rs16976174		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:43237052T>G	ENST00000327495.5	-	3	777	c.593A>C	c.(592-594)aAc>aCc	p.N198T	PSG3_ENST00000595140.1_Missense_Mutation_p.N198T|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	198	Ig-like C2-type 1.		N -> T (in dbSNP:rs16976174).		defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTCCTTTTGTTTTTGGACAA	0.507																																																	0													243	246	245					19																	43237052		2203	4300	6503	SO:0001583	missense	0				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.593A>C	19.37:g.43237052T>G	ENSP00000332215:p.Asn198Thr		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N198T	ENST00000327495.5	37	c.593	CCDS12611.1	19	.	.	.	.	.	.	.	.	.	.	-	0.078	-1.188417	0.01607	.	.	ENSG00000221826	ENST00000327495	T	0.10668	2.85	1.59	-1.21	0.09524	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.40534	-0.9558	9	0.29301	T	0.29	.	6.0173	0.19611	0.0:0.0:0.274:0.726	rs16976174;rs17173154	176;198	Q08266;Q16557	.;PSG3_HUMAN	T	198	ENSP00000332215:N198T	ENSP00000332215:N198T	N	-	2	0	PSG3	47928892	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.565000	0.05929	-0.678000	0.05224	-2.490000	0.00194	AAC	PSG3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000221826		0.507	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	-	0	244	0	T	NM_021016		43237052	-1	tier1	rs16976174	no_errors	ENST00000327495	ensembl	human	known	74_37	missense	38.42	117	73	SNP	0.000	G	G	43237052	T	G	43237052	3	3	61	1	0	0	0	0	1	0	0	0	12698	1725	60	4	709	4	PSG3	19	43237052	Missense_Mutation	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	5854022	43237052	15891931	171	17450											
SPHK2	56848	genome.wustl.edu	37	chr19	49132801	49132801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcggcatctcgcgggctgCgctgctgcgccttttcttgg	2	12	14	13	5	2	0	0	0	2	0	3	0	2	0	1	3	4	4	1	3	1	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:49132801C>T	ENST00000245222.4	+	7	2102	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	SPHK2_ENST00000599029.1_Missense_Mutation_p.A543V|SPHK2_ENST00000443164.1_Missense_Mutation_p.A641V|SPHK2_ENST00000600537.1_Missense_Mutation_p.A520V|SPHK2_ENST00000598088.1_Missense_Mutation_p.A579V|SPHK2_ENST00000599748.1_Missense_Mutation_p.A543V|SPHK2_ENST00000340932.3_Missense_Mutation_p.A541V	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	579					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCGCGGGCTGCGCTGCTGCGC	0.701																																																	0													24	21	22					19																	49132801		2197	4294	6491	SO:0001583	missense	0			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1736C>T	19.37:g.49132801C>T	ENSP00000245222:p.Ala579Val		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.A641V	ENST00000245222.4	37	c.1922	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738754	0.15642	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.14766	2.48;2.48;2.48	4.68	0.0523	0.14301	.	0.390351	0.28016	N	0.016922	T	0.10637	0.0260	M	0.71036	2.16	0.09310	N	1	B;P;P	0.42203	0.012;0.773;0.646	B;B;B	0.33960	0.005;0.173;0.124	T	0.21245	-1.0251	10	0.30078	T	0.28	0.128	4.6524	0.12601	0.1534:0.5854:0.0:0.2612	.	520;641;579	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	V	579;552;541;641	ENSP00000245222:A579V;ENSP00000341091:A541V;ENSP00000413369:A641V	ENSP00000245222:A579V	A	+	2	0	SPHK2	53824613	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	1.338000	0.33873	0.031000	0.15407	0.555000	0.69702	GCG	SPHK2	-	NULL	ENSG00000063176		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	-	0	41	0	C			49132801	1	tier1	-	no_errors	ENST00000443164	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.002	T	T	49132801	C	T	49132801	3	4	61	1	0	0	0	0	1	0	0	0	15094	768	27	1	1758	1	SPHK2	19	49132801	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	5895749	49132801	9996182	172	17451											
ZNF83	55769	genome.wustl.edu	37	chr19	53117750	53117750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgcagttctggtagatgtGactgcgggtttaatccaagc	8	12	13	8	1	1	2	0	1	1	1	2	2	2	2	1	2	3	5	1	2	3	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr19:53117750G>A	ENST00000597597.1	-	2	2321	c.68C>T	c.(67-69)tCa>tTa	p.S23L	ZNF83_ENST00000545872.1_Missense_Mutation_p.S23L|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.S23L|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Missense_Mutation_p.S23L|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.S23L|ZNF83_ENST00000391789.4_Missense_Mutation_p.S23L|ZNF83_ENST00000536937.1_Missense_Mutation_p.S23L			P51522	ZNF83_HUMAN	zinc finger protein 83	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGGTAGATGTGACTGCGGGTT	0.403																																																	0													61	66	64					19																	53117750		2203	4300	6503	SO:0001583	missense	0			M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"Zinc fingers, C2H2-type"	13158	protein-coding gene	gene with protein product		194558	"zinc finger protein 83 (HPF1)", "zinc finger protein 816B"	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.68C>T	19.37:g.53117750G>A	ENSP00000472619:p.Ser23Leu		A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S23L	ENST00000597597.1	37	c.68	CCDS12854.1	19	.	.	.	.	.	.	.	.	.	.	g	10.25	1.298216	0.23650	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000434535;ENST00000545872;ENST00000541777;ENST00000391789	T;T;T;T;T;T	0.09073	3.05;3.05;3.05;3.05;3.05;3.02	1.66	0.526	0.17078	.	.	.	.	.	T	0.12008	0.0292	M	0.63428	1.95	0.09310	N	1	B;P	0.51791	0.349;0.948	B;P	0.49528	0.026;0.614	T	0.17471	-1.0368	9	0.56958	D	0.05	.	2.7862	0.05374	0.343:0.2494:0.4076:0.0	.	23;23	P51522-2;P51522	.;ZNF83_HUMAN	L	23	ENSP00000445993:S23L;ENSP00000301096:S23L;ENSP00000445470:S23L;ENSP00000440713:S23L;ENSP00000439681:S23L;ENSP00000375666:S23L	ENSP00000301096:S23L	S	-	2	0	ZNF83	57809562	0.055000	0.20627	0.007000	0.13788	0.004000	0.04260	0.923000	0.28757	0.025000	0.15241	-0.384000	0.06662	TCA	ZNF83	-	NULL	ENSG00000167766		0.403	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF83	HGNC	protein_coding	OTTHUMT00000463700.1		0	39	0	G	NM_018300		53117750	-1			no_errors	ENST00000301096	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.003	A	A	53117750	G	A	53117750	3	1	61	1	0	0	0	0	1	0	0	0	18231	1294	45	3	1486	3	ZNF83	19	53117750	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	3984949	53117750	6011233	173	17452											
NRSN2	80023	genome.wustl.edu	37	chr20	330345	330345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccccagcgtggaggatGgcaagtggtatggggtccgc	6	6	19	10	3	0	0	0	0	0	0	1	2	1	2	3	7	1	2	3	7	2	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:330345G>A	ENST00000382291.3	+	3	298	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.G20S|NRSN2_ENST00000608736.1_Missense_Mutation_p.G20S|RP5-1103G7.4_ENST00000442637.1_RNA	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	20						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				CGTGGAGGATGGCAAGTGGTA	0.652																																																	0													55	51	52					20																	330345		2203	4300	6503	SO:0001583	missense	0			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"chromosome 20 open reading frame 98"	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.58G>A	20.37:g.330345G>A	ENSP00000371728:p.Gly20Ser		A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	NULL	p.G20S	ENST00000382291.3	37	c.58	CCDS12996.1	20	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130340	0.37630	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.16073	2.37;2.37	4.31	3.35	0.38373	.	0.495294	0.18679	N	0.134205	T	0.13586	0.0329	L	0.43152	1.355	0.25646	N	0.98615	P	0.51351	0.944	B	0.41894	0.369	T	0.11494	-1.0585	10	0.30078	T	0.28	-19.2106	7.1266	0.25475	0.1258:0.0:0.8742:0.0	.	20	Q9GZP1	NRSN2_HUMAN	S	20	ENSP00000371728:G20S;ENSP00000371722:G20S	ENSP00000371722:G20S	G	+	1	0	NRSN2	278345	0.994000	0.37717	0.975000	0.42487	0.856000	0.48823	2.468000	0.45102	0.984000	0.38629	0.643000	0.83706	GGC	NRSN2	-	NULL	ENSG00000125841		0.652	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN2	HGNC	protein_coding	OTTHUMT00000077446.1	-	0	27	0	G	NM_024958		330345	1	tier1	-	no_errors	ENST00000382285	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.985	A	A	330345	G	A	330345	3	1	61	1	0	0	0	0	1	0	0	0	10702	1348	47	3	60	3	NRSN2	20	330345	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		330345	62695175	174	17453											
TGM6	343641	genome.wustl.edu	37	chr20	2375225	2375225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctcacgctggagctgagCagagccctggactgtgagga	9	6	15	11	1	1	3	1	2	0	1	1	6	1	6	2	3	4	3	2	3	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:2375225C>T	ENST00000202625.2	+	2	196	c.135C>T	c.(133-135)agC>agT	p.S45S	TGM6_ENST00000381423.1_Silent_p.S45S|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	45					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGAGCTGAGCAGAGCCCTGG	0.622																																																	0													48	36	40					20																	2375225		2203	4300	6503	SO:0001819	synonymous_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.135C>T	20.37:g.2375225C>T			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S45	ENST00000202625.2	37	c.135	CCDS13025.1	20																																																																																			TGM6	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000166948		0.622	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0	24	0	C	NM_198994		2375225	1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	silent	40.82	29	20	SNP	0.015	T	T	2375225	C	T	2375225	2	4	61	1	0	0	0	0	0	0	0	1	15881	709	25	3		3	TGM6	20	2375225	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	2044880	2375225	60650295	175	17454											
SEL1L2	80343	genome.wustl.edu	37	chr20	13856704	13856704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttactggctgccatggaaaAgtacttgaaggcagtagcgt	11	10	12	8	1	0	1	0	1	0	0	0	2	0	2	1	3	4	4	1	3	6	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:13856704A>C	ENST00000284951.5	-	12	1158	c.1084T>G	c.(1084-1086)Ttt>Gtt	p.F362V	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F362V|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	362						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCCATGGAAAAGTACTTGAAG	0.388																																																	0													184	178	180					20																	13856704		1932	4145	6077	SO:0001583	missense	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1084T>G	20.37:g.13856704A>C	ENSP00000284951:p.Phe362Val		B4DXX5	Missense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.F362V	ENST00000284951.5	37	c.1084		20	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861268	0.71949	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.55588	0.51;0.51	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.087641	0.50627	D	0.000117	T	0.75568	0.3867	H	0.96430	3.82	0.50313	D	0.999868	P;B	0.52316	0.952;0.295	P;B	0.52189	0.692;0.218	D	0.83859	0.0267	10	0.87932	D	0	-9.3153	14.5796	0.68278	1.0:0.0:0.0:0.0	.	362;362	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	362	ENSP00000367312:F362V;ENSP00000284951:F362V	ENSP00000284951:F362V	F	-	1	0	SEL1L2	13804704	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.721000	0.84768	2.330000	0.79161	0.529000	0.55759	TTT	SEL1L2	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000101251		0.388	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	-	0	74	0	A	NM_025229		13856704	-1	tier1	-	no_errors	ENST00000284951	ensembl	human	known	74_37	missense	43.85	72	57	SNP	1.000	C	C	13856704	A	C	13856704	3	2	61	1	0	0	0	0	1	0	0	0	14056	72	3	4	1018	4	SEL1L2	20	13856704	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	11481479	13856704	49168816	176	17455											
ASXL1	171023	genome.wustl.edu	37	chr20	31019408	31019408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacggatggcctgttgcGtctcagcagcagtgcactaa	8	8	15	10	2	1	0	1	0	1	0	2	2	1	2	1	4	4	4	1	4	1	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:31019408G>T	ENST00000375687.4	+	10	1329	c.905G>T	c.(904-906)cGt>cTt	p.R302L	ASXL1_ENST00000306058.5_Missense_Mutation_p.R297L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	302	Interaction with KDM1A. {ECO:0000250}.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGCCTGTTGCGTCTCAGCAGC	0.502			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													70	70	70					20																	31019408		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.905G>T	20.37:g.31019408G>T	ENSP00000364839:p.Arg302Leu		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.R302L	ENST00000375687.4	37	c.905	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003623	0.74932	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	T;T	0.22743	1.95;1.94	5.27	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.45115	0.1326	M	0.71036	2.16	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.996	T	0.41395	-0.9511	10	0.87932	D	0	-11.2832	14.3458	0.66662	0.0721:0.0:0.9279:0.0	.	297;302	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	L	302;302;302;241;297;74	ENSP00000364839:R302L;ENSP00000305119:R297L	ENSP00000305119:R297L	R	+	2	0	ASXL1	30483069	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.059000	0.57470	2.751000	0.94390	0.650000	0.86243	CGT	ASXL1	-	NULL	ENSG00000171456		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	98	0	G	NM_015338		31019408	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	44.36	74	59	SNP	1.000	T	T	31019408	G	T	31019408	3	4	61	1	0	0	0	0	1	0	0	0	1067	1145	40	2	949	2	ASXL1	20	31019408	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	17162704	31019408	32006112	177	17456											
JPH2	57158	genome.wustl.edu	37	chr20	42744353	42744353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgcggcctccttccgCgccttcttcttggcccccgc	1	10	10	20	4	2	0	0	0	2	0	4	0	4	0	7	2	1	0	7	2	0	4			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:42744353C>T	ENST00000372980.3	-	4	2834	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	654					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCCTTCCGCGCCTTCTTCT	0.667																																																	0													41	45	44					20																	42744353		2202	4300	6502	SO:0001819	synonymous_variant	0			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1962G>A	20.37:g.42744353C>T			E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A654	ENST00000372980.3	37	c.1962	CCDS13325.1	20																																																																																			JPH2	-	pirsf_Junctophilin	ENSG00000149596		0.667	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1		0	17	0	C			42744353	-1			no_errors	ENST00000372980	ensembl	human	known	74_37	silent	14.71	29	5	SNP	0.005	T	T	42744353	C	T	42744353	2	4	61	1	0	0	0	0	0	0	0	1	7988	755	27	1		1	JPH2	20	42744353	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	11724945	42744353	20281167	178	17457											
FAM65C	140876	genome.wustl.edu	37	chr20	49226215	49226215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgctggaggcgccgtcGcgcaggcggcactggatgca	6	6	17	12	5	0	0	0	0	0	0	1	2	0	2	1	5	3	5	1	5	0	0	rs374374141		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:49226215G>A	ENST00000327979.2	-	7	870	c.459C>T	c.(457-459)cgC>cgT	p.R153R	FAM65C_ENST00000045083.2_Silent_p.R153R|FAM65C_ENST00000535356.1_Silent_p.R157R			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	153										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCGCCGTCGCGCAGGCGGC	0.741																																																	0								G		0,4172		0,0,2086	8	9	8		459	-10.6	0.1	20		8	2,8108		0,2,4053	no	coding-synonymous	FAM65C	NM_080829.2		0,2,6139	AA,AG,GG		0.0247,0.0,0.0163		153/947	49226215	2,12280	2086	4055	6141	SO:0001819	synonymous_variant	0			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 175", "chromosome 20 open reading frame 176"	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.459C>T	20.37:g.49226215G>A			Q5QPB6|Q9NQQ2	Silent	SNP	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.R157	ENST00000327979.2	37	c.471	CCDS13431.2	20																																																																																			FAM65C	-	NULL	ENSG00000042062		0.741	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	HGNC	protein_coding	OTTHUMT00000257962.1		0	10	0	G			49226215	-1			no_errors	ENST00000535356	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.005	A	A	49226215	G	A	49226215	2	1	61	1	0	0	0	0	0	0	0	1	5623	1074	38	1		1	FAM65C	20	49226215	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	6481862	49226215	13799305	179	17458											
ZNF831	128611	genome.wustl.edu	37	chr20	57766158	57766158	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctccaggggccccaggTggccaggcctcacctcacct	5	5	12	19	0	2	0	2	0	0	0	3	0	3	0	8	6	0	0	8	6	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:57766158T>C	ENST00000371030.2	+	1	84	c.84T>C	c.(82-84)ggT>ggC	p.G28G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	28	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCCCCAGGTGGCCAGGCCT	0.692																																																	0													24	28	27					20																	57766158		1927	4127	6054	SO:0001819	synonymous_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.84T>C	20.37:g.57766158T>C			Q5TDR4|Q8TCP0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G28	ENST00000371030.2	37	c.84	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.692	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	35	0	T	NM_178457		57766158	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	silent	9.86	64	7	SNP	0.002	C	C	57766158	T	C	57766158	2	2	61	1	0	0	0	0	0	0	0	1	18233	1683	59	4		4	ZNF831	20	57766158	Silent	SNP	T	TCGA-L5-A4ON-01A-11D-A27G-09	8539943	57766158	5259362	180	17459											
LAMA5	3911	genome.wustl.edu	37	chr20	60885984	60885984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggccaggccgggagcGctggcggctctgggcgcgga	4	3	20	14	6	1	0	0	0	1	0	1	2	1	2	3	7	2	2	3	7	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr20:60885984G>A	ENST00000252999.3	-	74	10321	c.10255C>T	c.(10255-10257)Cgc>Tgc	p.R3419C	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3419	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCCGGGAGCGCTGGCGGCTC	0.701																																																	0													12	16	14					20																	60885984		2097	4175	6272	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10255C>T	20.37:g.60885984G>A	ENSP00000252999:p.Arg3419Cys		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R3419C	ENST00000252999.3	37	c.10255	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	14.43	2.533407	0.45073	.	.	ENSG00000130702	ENST00000252999	T	0.79141	-1.24	4.79	3.76	0.43208	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.417945	0.25467	N	0.030469	T	0.80454	0.4626	M	0.67397	2.05	0.09310	N	0.999996	D	0.76494	0.999	P	0.54965	0.765	T	0.72239	-0.4351	10	0.87932	D	0	.	7.2037	0.25895	0.0:0.1573:0.5478:0.295	.	3419	O15230	LAMA5_HUMAN	C	3419	ENSP00000252999:R3419C	ENSP00000252999:R3419C	R	-	1	0	LAMA5	60319379	0.000000	0.05858	0.929000	0.37066	0.040000	0.13550	0.541000	0.23207	2.216000	0.71823	0.556000	0.70494	CGC	LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000130702		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	15	0	G	NM_005560		60885984	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	73.91	6	17	SNP	0.048	A	A	60885984	G	A	60885984	3	1	61	1	0	0	0	0	1	0	0	0	8637	1087	38	1	860	1	LAMA5	20	60885984	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	3119826	60885984	2139536	181	17460											
NCAM2	4685	genome.wustl.edu	37	chr21	22664538	22664538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggagaaattgacttccGtgatatcattgttattgtta	11	15	10	5	1	1	3	1	2	0	1	2	4	2	3	1	2	0	2	1	2	4	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr21:22664538G>A	ENST00000400546.1	+	5	845	c.596G>A	c.(595-597)cGt>cAt	p.R199H	NCAM2_ENST00000284894.7_Missense_Mutation_p.R57H|NCAM2_ENST00000535285.1_Missense_Mutation_p.R224H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	199	Ig-like C2-type 2.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R199H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATTGACTTCCGTGATATCATT	0.333																																																	1	Substitution - Missense(1)	endometrium(1)											158	157	158					21																	22664538		1837	4094	5931	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.596G>A	21.37:g.22664538G>A	ENSP00000383392:p.Arg199His		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.R199H	ENST00000400546.1	37	c.596	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509330	0.85282	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.77750	1.66;-1.12;1.66	5.48	5.48	0.80851	.	0.112824	0.64402	D	0.000011	D	0.88138	0.6356	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	P;P;D	0.65323	0.908;0.882;0.934	D	0.89136	0.3513	10	0.72032	D	0.01	-14.6449	18.2691	0.90062	0.0:0.0:1.0:0.0	.	224;57;199	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	H	199;57;224	ENSP00000383392:R199H;ENSP00000284894:R57H;ENSP00000441887:R224H	ENSP00000284894:R57H	R	+	2	0	NCAM2	21586409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.509000	0.60448	2.733000	0.93635	0.655000	0.94253	CGT	NCAM2	-	smart_Ig_sub,prints_Neural_cell_adh	ENSG00000154654		0.333	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	80	0	G	NM_004540		22664538	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	A	A	22664538	G	A	22664538	3	1	61	1	0	0	0	0	1	0	0	0	10242	1145	40	1	614	1	NCAM2	21	22664538	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09		22664538	25465357	182	17461											
KRTAP6-1	337966	genome.wustl.edu	37	chr21	31986100	31986100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacagcccagtctgcggaAgccacagccacagcaggagc	11	2	12	16	1	1	0	0	0	1	0	1	2	1	2	4	2	6	1	4	2	1	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr21:31986100A>G	ENST00000329122.2	-	1	149	c.124T>C	c.(124-126)Ttc>Ctc	p.F42L	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	42						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						AGTCTGCGGAAGCCACAGCCA	0.597																																																	0													127	131	129					21																	31986100		2203	4300	6503	SO:0001583	missense	0			AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"Keratin associated proteins"	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.124T>C	21.37:g.31986100A>G	ENSP00000332690:p.Phe42Leu			Missense_Mutation	SNP	NULL	p.F42L	ENST00000329122.2	37	c.124	CCDS13602.1	21	.	.	.	.	.	.	.	.	.	.	A	10.78	1.448173	0.26074	.	.	ENSG00000184724	ENST00000329122;ENST00000399871	T	0.19250	2.16	4.53	2.01	0.26516	.	.	.	.	.	T	0.17365	0.0417	.	.	.	0.18873	N	0.999985	B	0.18166	0.026	B	0.21708	0.036	T	0.25467	-1.0131	8	0.87932	D	0	.	8.2183	0.31526	0.6826:0.0:0.0:0.3174	.	42	Q3LI64	KRA61_HUMAN	L	42;28	ENSP00000332690:F42L	ENSP00000332690:F42L	F	-	1	0	KRTAP6-1	30907971	0.552000	0.26505	0.028000	0.17463	0.787000	0.44495	0.811000	0.27198	0.304000	0.22809	0.433000	0.28618	TTC	KRTAP6-1	-	NULL	ENSG00000184724		0.597	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP6-1	HGNC	protein_coding	OTTHUMT00000128240.2	-	0	125	0	A	NM_181602		31986100	-1	tier1	-	no_errors	ENST00000329122	ensembl	human	known	74_37	missense	42.45	61	45	SNP	0.474	G	G	31986100	A	G	31986100	3	3	61	1	0	0	0	0	1	0	0	0	8597	72	3	4	95	4	KRTAP6-1	21	31986100	Missense_Mutation	SNP	A	TCGA-L5-A4ON-01A-11D-A27G-09	9321562	31986100	16143795	183	17462											
TIAM1	7074	genome.wustl.edu	37	chr21	32537342	32537342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggtctcctctggagcGgtctcagcactgctgccctg	3	10	11	17	2	3	0	1	0	3	0	6	1	3	1	3	3	4	2	3	3	0	0	rs557120271		TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr21:32537342G>A	ENST00000286827.3	-	17	3399	c.2928C>T	c.(2926-2928)acC>acT	p.T976T	TIAM1_ENST00000541036.1_Silent_p.T916T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	976					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T976T(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCTGGAGCGGTCTCAGCAC	0.502																																																	2	Substitution - coding silent(2)	lung(2)											78	74	75					21																	32537342		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2928C>T	21.37:g.32537342G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.T976	ENST00000286827.3	37	c.2928	CCDS13609.1	21																																																																																			TIAM1	-	NULL	ENSG00000156299		0.502	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	36	0	G	NM_003253		32537342	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	silent	23.26	33	10	SNP	0.000	A	A	32537342	G	A	32537342	2	1	61	1	0	0	0	0	0	0	0	1	15937	1103	39	1		1	TIAM1	21	32537342	Silent	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	551242	32537342	15592553	184	17463											
TXNRD2	10587	genome.wustl.edu	37	chr22	19902752	19902752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacgtgcgtggggtatctCggccgccctccagtagcaat	6	9	12	14	4	2	0	1	0	1	0	4	0	3	0	3	3	2	3	3	3	3	2			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chr22:19902752C>T	ENST00000400521.1	-	7	582	c.576G>A	c.(574-576)ccG>ccA	p.P192P	TXNRD2_ENST00000334363.9_Silent_p.P192P|TXNRD2_ENST00000400518.1_Silent_p.P162P|TXNRD2_ENST00000535882.1_Silent_p.P191P|TXNRD2_ENST00000542719.1_Silent_p.P162P|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400519.1_Silent_p.P191P	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	192					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGGGTATCTCGGCCGCCCTC	0.572																																																	0													54	64	61					22																	19902752		2054	4190	6244	SO:0001819	synonymous_variant	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.576G>A	22.37:g.19902752C>T			O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.P191	ENST00000400521.1	37	c.573	CCDS42981.1	22																																																																																			TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000184470		0.572	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	-	0	24	0	C	NM_006440		19902752	-1	tier1	-	no_errors	ENST00000535882	ensembl	human	known	74_37	silent	54.17	11	13	SNP	0.011	T	T	19902752	C	T	19902752	2	4	61	1	0	0	0	0	0	0	0	1	16857	871	31	1		1	TXNRD2	22	19902752	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09		19902752	31401814	185	17464											
KIAA2022	340533	genome.wustl.edu	37	chrX	73960102	73960102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgctcatgttactataCtttttatcaaagaaggtaga	15	14	7	5	0	2	2	2	0	0	2	2	2	2	2	0	1	3	3	0	1	8	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chrX:73960102C>G	ENST00000055682.6	-	3	4901	c.4290G>C	c.(4288-4290)aaG>aaC	p.K1430N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1430					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGTTACTATACTTTTTATCAA	0.438																																																	0													186	159	168					X																	73960102		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4290G>C	X.37:g.73960102C>G	ENSP00000055682:p.Lys1430Asn		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.K1430N	ENST00000055682.6	37	c.4290	CCDS35337.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.899|7.899	0.733889|0.733889	0.15574|0.15574	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000373468;ENST00000055682|ENST00000424929	T;T|.	0.30714|.	1.52;1.52|.	5.36|5.36	3.55|3.55	0.40652|0.40652	.|.	0.175676|.	0.48767|.	D|.	0.000173|.	T|T	0.22282|0.22282	0.0537|0.0537	N|N	0.08118|0.08118	0|0	0.32533|0.32533	N|N	0.534686|0.534686	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|5	0.12766|.	T|.	0.61|.	-13.459|-13.459	7.5844|7.5844	0.27985|0.27985	0.0:0.4309:0.4578:0.1112|0.0:0.4309:0.4578:0.1112	.|.	1430|.	Q5QGS0|.	K2022_HUMAN|.	N|L	1430|32	ENSP00000362567:K1430N;ENSP00000055682:K1430N|.	ENSP00000055682:K1430N|.	K|V	-|-	3|1	2|0	KIAA2022|KIAA2022	73876827|73876827	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	2.721000|2.721000	0.47260|0.47260	1.034000|1.034000	0.39945|0.39945	0.544000|0.544000	0.68410|0.68410	AAG|GTA	KIAA2022	-	NULL	ENSG00000050030		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	31	0	C	NM_001008537		73960102	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	G	G	73960102	C	G	73960102	3	3	61	1	0	0	0	0	1	0	0	0	8296	564	20	5	268	5	KIAA2022	23	73960102	Missense_Mutation	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09		73960102	81310458	186	17465											
CYSLTR1	10800	genome.wustl.edu	37	chrX	77528873	77528873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggactggaaaaacaattGcaatgcaccggaaaaagctc	16	7	9	9	1	1	0	0	0	1	0	2	3	1	3	1	3	4	3	1	3	6	1			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chrX:77528873G>C	ENST00000373304.3	-	3	663	c.371C>G	c.(370-372)gCa>gGa	p.A124G		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	124					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAAAACAATTGCAATGCACCG	0.403																																																	0													63	55	58					X																	77528873		2202	4299	6501	SO:0001583	missense	0			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"GPCR / Class A : Leukotriene receptors"	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.371C>G	X.37:g.77528873G>C	ENSP00000362401:p.Ala124Gly		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A124G	ENST00000373304.3	37	c.371	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	g	19.41	3.821630	0.71028	.	.	ENSG00000173198	ENST00000373304	T	0.54675	0.56	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	L	0.52206	1.635	0.49798	D	0.999828	D	0.89917	1.0	D	0.87578	0.998	T	0.62515	-0.6838	10	0.31617	T	0.26	.	13.6743	0.62445	0.0:0.0:1.0:0.0	.	124	Q9Y271	CLTR1_HUMAN	G	124	ENSP00000362401:A124G	ENSP00000362401:A124G	A	-	2	0	CYSLTR1	77415529	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.589000	0.98235	1.790000	0.52503	0.452000	0.29995	GCA	CYSLTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000173198		0.403	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	-	0	34	0	G			77528873	-1	tier1	-	no_errors	ENST00000373304	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	C	C	77528873	G	C	77528873	3	2	61	1	0	0	0	0	1	0	0	0	4210	1319	46	5	646	5	CYSLTR1	23	77528873	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	3568771	77528873	77741687	187	17466											
NXF2	728343	genome.wustl.edu	37	chrX	101624588	101624588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttttctatttctccaCgtggtaatacggatttcgtc	7	16	10	8	3	2	0	0	0	2	0	5	2	2	2	1	4	1	2	1	4	3	7			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chrX:101624588C>T	ENST00000372750.1	-	9	1102	c.303G>A	c.(301-303)acG>acA	p.T101T	NXF2B_ENST00000372749.1_Silent_p.T101T|NXF2B_ENST00000412230.2_Silent_p.T101T|NXF2B_ENST00000372752.1_Silent_p.T13T|NXF2B_ENST00000457521.2_Silent_p.T101T			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	101					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TATTTCTCCACGTGGTAATAC	0.463																																																	0													4	6	6					X																	101624588		409	969	1378	SO:0001819	synonymous_variant	0				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.303G>A	X.37:g.101624588C>T			Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.T101	ENST00000372750.1	37	c.303	CCDS43979.1	X																																																																																			NXF2B	-	NULL	ENSG00000185945		0.463	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	HGNC	protein_coding	OTTHUMT00000058979.1	-	0	78	0	C			101624588	-1	tier1	-	no_errors	ENST00000372749	ensembl	human	known	74_37	silent	41.53	69	49	SNP	0.000	T	T	101624588	C	T	101624588	2	4	61	1	0	0	0	0	0	0	0	1	10822	523	19	1		1	NXF2	23	101624588	Silent	SNP	C	TCGA-L5-A4ON-01A-11D-A27G-09	24095715	101624588	53645972	188	17467											
CT47B1	643311	genome.wustl.edu	37	chrX	120008881	120008881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcctccgcgggctccctgGccatctcggccaggtcagct	3	8	11	19	3	2	0	1	0	1	0	6	0	5	0	6	4	1	2	6	4	0	0			TCGA-L5-A4ON-01A-11D-A27G-09	TCGA-L5-A4ON-11A-21D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5037c10c-48fe-4a49-9a26-2f0d2ebac3f5	05dd77a6-c3a2-44e5-b6aa-a69f9a88ffc1	g.chrX:120008881G>T	ENST00000371311.3	-	1	898	c.644C>A	c.(643-645)gCc>gAc	p.A215D		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	215										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGGCTCCCTGGCCATCTCGGC	0.692																																																	0													28	27	27					X																	120008881		692	1590	2282	SO:0001583	missense	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.644C>A	X.37:g.120008881G>T	ENSP00000360360:p.Ala215Asp		A6NM97	Missense_Mutation	SNP	NULL	p.A215D	ENST00000371311.3	37	c.644	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163907	0.21538	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.24	1.24	0.21308	.	.	.	.	.	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	D	0.62365	0.991	P	0.47102	0.537	T	0.10314	-1.0635	8	0.27082	T	0.32	.	5.4369	0.16486	0.0:0.0:1.0:0.0	.	215	P0C2W7	CT47B_HUMAN	D	215	.	ENSP00000360360:A215D	A	-	2	0	CT47B1	119892909	0.003000	0.15002	0.001000	0.08648	0.106000	0.19336	1.644000	0.37228	0.903000	0.36546	0.171000	0.16805	GCC	CT47B1	-	NULL	ENSG00000236446		0.692	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	-	0	60	0	G	NM_001145718		120008881	-1	tier1	-	no_errors	ENST00000371311	ensembl	human	known	74_37	missense	85.07	19	114	SNP	0.001	T	T	120008881	G	T	120008881	3	4	61	1	0	0	0	0	1	0	0	0	3998	1203	42	3	263	3	CT47B1	23	120008881	Missense_Mutation	SNP	G	TCGA-L5-A4ON-01A-11D-A27G-09	18384293	120008881	35261679	189	17468											
TTLL10	254173	genome.wustl.edu	37	chr1	1114645	1114645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggggaccacccactcGgacccgagccggcttcaaga	8	3	12	18	5	1	1	1	0	0	1	2	4	1	3	6	4	1	1	6	4	1	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:1114645G>A	ENST00000379290.1	+	4	223	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.R17Q|TTLL10_ENST00000379288.3_5'Flank			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	17					cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCACCCACTCGGACCCGAGCC	0.682																																																	0													29	40	37					1																	1114645		692	1591	2283	SO:0001583	missense	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.50G>A	1.37:g.1114645G>A	ENSP00000368592:p.Arg17Gln		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.R17Q	ENST00000379290.1	37	c.50	CCDS44036.1	1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780257	0.31502	.	.	ENSG00000162571	ENST00000379290;ENST00000379289	T;T	0.08282	3.11;3.11	3.94	2.04	0.26737	.	.	.	.	.	T	0.05135	0.0137	L	0.32530	0.975	0.09310	N	1	P	0.35628	0.513	B	0.17433	0.018	T	0.34875	-0.9811	9	0.54805	T	0.06	.	5.6775	0.17757	0.2432:0.0:0.7568:0.0	.	17	Q6ZVT0	TTL10_HUMAN	Q	17	ENSP00000368592:R17Q;ENSP00000368591:R17Q	ENSP00000368591:R17Q	R	+	2	0	TTLL10	1104508	0.003000	0.15002	0.006000	0.13384	0.021000	0.10359	0.286000	0.18902	1.022000	0.39626	0.306000	0.20318	CGG	TTLL10	-	NULL	ENSG00000162571		0.682	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	-	0	29	0	G	NM_153254		1114645	1	tier1	-	no_errors	ENST00000379289	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.001	A	A	1114645	G	A	1114645	3	1	62	1	0	0	0	0	1	0	0	0	16772	1116	39	1	52	1	TTLL10	1	1114645	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		1114645	248135976	1	17469											
ZSWIM5	57643	genome.wustl.edu	37	chr1	45553566	45553566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattaccattcacttggttGatttctgagttggaggatag	10	15	10	6	0	2	2	1	2	1	0	2	4	2	4	1	3	1	2	1	3	3	7			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:45553566G>A	ENST00000359600.5	-	2	1144	c.939C>T	c.(937-939)atC>atT	p.I313I	ZSWIM5_ENST00000464588.1_5'Flank	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	313						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCACTTGGTTGATTTCTGAGT	0.368																																																	0													125	118	120					1																	45553566		1863	4095	5958	SO:0001819	synonymous_variant	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.939C>T	1.37:g.45553566G>A			Q5SXQ9	Silent	SNP	pfscan_Znf_SWIM	p.I313	ENST00000359600.5	37	c.939	CCDS41319.1	1																																																																																			ZSWIM5	-	NULL	ENSG00000162415		0.368	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	-	0	66	0	G	XM_046581		45553566	-1	tier1	-	no_errors	ENST00000359600	ensembl	human	known	74_37	silent	21.92	57	16	SNP	1.000	A	A	45553566	G	A	45553566	2	1	62	1	0	0	0	0	0	0	0	1	18292	1280	45	3		3	ZSWIM5	1	45553566	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	44438921	45553566	203697055	2	17470											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144881481	144881481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagcaaagacagtggCttctgatagcagcagcttct	11	9	11	10	0	2	3	0	2	2	1	2	3	2	3	1	1	5	5	1	1	2	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:144881481C>T	ENST00000369354.3	-	25	3904	c.3715G>A	c.(3715-3717)Gcc>Acc	p.A1239T	PDE4DIP_ENST00000369356.4_Missense_Mutation_p.A1239T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.A1376T|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.A1376T|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.A1195T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1239					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGACAGTGGCTTCTGATAGC	0.458			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													187	178	181					1																	144881481		2203	4296	6499	SO:0001583	missense	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3715G>A	1.37:g.144881481C>T	ENSP00000358360:p.Ala1239Thr		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.A1239T	ENST00000369354.3	37	c.3715	CCDS30824.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.0|28.0	4.880107|4.880107	0.91740|0.91740	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530592	T;T;T;T;T|.	0.03272|.	3.99;4.16;4.12;4.19;4.19|.	6.06|6.06	5.15|5.15	0.70609|0.70609	.|.	.|.	.|.	.|.	.|.	T|T	0.66548|0.66548	0.2800|0.2800	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	P;D|.	0.89917|.	0.457;1.0|.	B;D|.	0.85130|.	0.135;0.997|.	T|T	0.69573|0.69573	-0.5109|-0.5109	9|5	0.87932|.	D|.	0|.	.|.	13.4449|13.4449	0.61136|0.61136	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	1195;1239|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	T|N	1195;1239;1239;1376;1376|133	ENSP00000327209:A1195T;ENSP00000358360:A1239T;ENSP00000358363:A1239T;ENSP00000435654:A1376T;ENSP00000358366:A1376T|.	ENSP00000327209:A1195T|.	A|S	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143592838|143592838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.648000|0.648000	0.38561|0.38561	5.149000|5.149000	0.64863|0.64863	1.575000|1.575000	0.49775|0.49775	0.655000|0.655000	0.94253|0.94253	GCC|AGC	PDE4DIP	-	NULL	ENSG00000178104		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	178	0	C	NM_022359		144881481	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	8.43	152	14	SNP	1.000	T	T	144881481	C	T	144881481	3	4	62	1	0	0	0	0	1	0	0	0	11682	797	28	3	3405	3	PDE4DIP	1	144881481	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	99327915	144881481	104369140	3	17471											
SPTA1	6708	genome.wustl.edu	37	chr1	158627319	158627319	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattatctacaataggttccTtctctctgatccatgtttct	8	19	4	10	0	4	1	0	1	4	0	7	1	6	1	2	1	1	2	2	1	5	7			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:158627319T>G	ENST00000368147.4	-	19	2933	c.2753A>C	c.(2752-2754)aAg>aCg	p.K918T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	918					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATAGGTTCCTTCTCTCTGAT	0.478																																																	0													152	155	154					1																	158627319		1986	4170	6156	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2753A>C	1.37:g.158627319T>G	ENSP00000357129:p.Lys918Thr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K918T	ENST00000368147.4	37	c.2753	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909841	0.72983	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.68	3.54	0.40534	.	0.000000	0.33691	N	0.004650	T	0.60327	0.2260	M	0.75150	2.29	0.47374	D	0.999401	D	0.89917	1.0	D	0.97110	1.0	T	0.64960	-0.6284	10	0.66056	D	0.02	.	9.6499	0.39890	0.0:0.0847:0.0:0.9153	.	918	P02549	SPTA1_HUMAN	T	918	ENSP00000357130:K918T;ENSP00000357129:K918T	ENSP00000357129:K918T	K	-	2	0	SPTA1	156893943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.191000	0.65110	0.903000	0.36546	0.533000	0.62120	AAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	86	0	T	NM_003126		158627319	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	13.92	68	11	SNP	1.000	G	G	158627319	T	G	158627319	3	3	62	1	0	0	0	0	1	0	0	0	15163	1609	56	4	4642	4	SPTA1	1	158627319	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	13745838	158627319	90623302	4	17472											
SELL	6402	genome.wustl.edu	37	chr1	169670756	169670756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaacccagagaatgcagtAaccatgactgccactggaat	14	6	9	12	0	0	2	0	1	0	1	0	4	0	3	4	1	4	2	4	1	4	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:169670756A>G	ENST00000236147.4	-	7	1225	c.1065T>C	c.(1063-1065)gtT>gtC	p.V355V	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	342					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AGAATGCAGTAACCATGACTG	0.378																																																	0													48	45	46					1																	169670756		1852	4096	5948	SO:0001819	synonymous_variant	0			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"CD molecules"	10720	protein-coding gene	gene with protein product		153240	"lymphocyte adhesion molecule 1"	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.1065T>C	1.37:g.169670756A>G			B2R6Q8|P15023|Q9UJ43	Silent	SNP	pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.V355	ENST00000236147.4	37	c.1065	CCDS53427.1	1																																																																																			SELL	-	pirsf_L-selectin	ENSG00000188404		0.378	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELL	HGNC	protein_coding	OTTHUMT00000084233.1	-	0	39	0	A	NM_000655		169670756	-1	tier1	-	no_errors	ENST00000236147	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.076	G	G	169670756	A	G	169670756	2	3	62	1	0	0	0	0	0	0	0	1	14061	349	13	4		4	SELL	1	169670756	Silent	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	11043437	169670756	79579865	5	17473											
CACNA1E	777	genome.wustl.edu	37	chr1	181453096	181453096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagatccctgttcatcttCggagaagataacattgtcag	13	11	8	9	1	3	3	2	0	1	3	5	4	4	3	1	1	2	1	1	1	3	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:181453096C>T	ENST00000367573.2	+	1	216	c.216C>T	c.(214-216)ttC>ttT	p.F72F	CACNA1E_ENST00000367570.1_Silent_p.F72F|CACNA1E_ENST00000357570.5_Silent_p.F23F|CACNA1E_ENST00000360108.3_Silent_p.F72F|CACNA1E_ENST00000358338.5_Silent_p.F23F|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Silent_p.F72F	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	72					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F72F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTTCATCTTCGGAGAAGATA	0.498																																																	1	Substitution - coding silent(1)	large_intestine(1)											169	173	172					1																	181453096		1913	4133	6046	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.216C>T	1.37:g.181453096C>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.F72	ENST00000367573.2	37	c.216	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	81	0	C	NM_000721		181453096	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	20.73	65	17	SNP	1.000	T	T	181453096	C	T	181453096	2	4	62	1	0	0	0	0	0	0	0	1	2549	883	31	1		1	CACNA1E	1	181453096	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	11782340	181453096	67797525	6	17474											
C1orf26	54823	genome.wustl.edu	37	chr1	185143719	185143719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggagcaagcttgaccatgGaattaaaagccttagtagtc	13	10	11	7	0	0	1	0	1	0	0	1	3	0	3	2	2	3	3	2	2	6	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:185143719G>A	ENST00000367500.4	+	5	605	c.440G>A	c.(439-441)gGa>gAa	p.G147E	SWT1_ENST00000367501.3_Missense_Mutation_p.G147E	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	147										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTTGACCATGGAATTAAAAGC	0.368																																																	0													53	53	53					1																	185143719		2203	4300	6503	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.440G>A	1.37:g.185143719G>A	ENSP00000356470:p.Gly147Glu		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PIN_dom	p.G147E	ENST00000367500.4	37	c.440	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.583775	0.00872	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.52983	0.64;0.64;0.64	5.35	-5.03	0.02973	.	0.656003	0.14223	N	0.333248	T	0.21307	0.0513	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38628	-0.9652	10	0.02654	T	1	.	8.6034	0.33758	0.6093:0.0:0.2887:0.102	.	147	Q5T5J6	SWT1_HUMAN	E	147	ENSP00000356471:G147E;ENSP00000356470:G147E;ENSP00000401413:G147E	ENSP00000356470:G147E	G	+	2	0	SWT1	183410342	0.974000	0.33945	0.001000	0.08648	0.447000	0.32167	0.141000	0.16076	-0.994000	0.03463	-1.028000	0.02416	GGA	SWT1	-	NULL	ENSG00000116668		0.368	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	-	0	42	0	G	NM_017673		185143719	1	tier1	-	no_errors	ENST00000367500	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.000	A	A	185143719	G	A	185143719	3	1	62	1	0	0	0	0	1	0	0	0	2042	1174	41	3	454	3	C1orf26	1	185143719	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	3690623	185143719	64106902	7	17475											
CAMK1G	57172	genome.wustl.edu	37	chr1	209768386	209768386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacagaccaccaacatcCggaaaaccttcatttttatg	16	9	5	11	1	1	2	1	0	0	2	2	3	2	3	4	1	3	0	4	1	5	4	rs375301374		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:209768386C>T	ENST00000009105.1	+	2	303	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R20W			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	20						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CACCAACATCCGGAAAACCTT	0.512																																					Ovarian(163;530 1939 9680 28669 48710)												0								C	TRP/ARG	0,4406		0,0,2203	96	94	95		58	3.4	1	1		95	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAMK1G	NM_020439.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	20/477	209768386	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.58C>T	1.37:g.209768386C>T	ENSP00000009105:p.Arg20Trp		Q86UH5|Q9Y3J7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R20W	ENST00000009105.1	37	c.58	CCDS1486.1	1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694064	0.68386	0.0	1.16E-4	ENSG00000008118	ENST00000009105;ENST00000423146;ENST00000361322	T;T;T	0.67523	1.04;-0.27;1.04	5.31	3.39	0.38822	Protein kinase-like domain (1);	0.000000	0.46442	D	0.000284	T	0.74450	0.3718	L	0.59436	1.845	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.95	T	0.73375	-0.4002	10	0.72032	D	0.01	.	8.0241	0.30427	0.3467:0.5755:0.0:0.0778	.	20;20	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	W	20	ENSP00000009105:R20W;ENSP00000392173:R20W;ENSP00000354861:R20W	ENSP00000009105:R20W	R	+	1	2	CAMK1G	207835009	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.476000	0.22180	0.565000	0.29255	0.655000	0.94253	CGG	CAMK1G	-	superfamily_Kinase-like_dom	ENSG00000008118		0.512	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	HGNC	protein_coding	OTTHUMT00000088526.1	-	0	60	0	C	NM_020439		209768386	1	tier1	-	no_errors	ENST00000009105	ensembl	human	known	74_37	missense	21.11	71	19	SNP	1.000	T	T	209768386	C	T	209768386	3	4	62	1	0	0	0	0	1	0	0	0	2605	643	23	1	60	1	CAMK1G	1	209768386	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	24624667	209768386	39482235	8	17476											
SPHAR	10638	genome.wustl.edu	37	chr1	229440935	229440935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagatattttgagttttgCtttttttatgccttgaatat	8	24	6	3	0	0	3	0	2	0	1	0	3	0	3	1	0	2	2	1	0	5	13			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:229440935C>G	ENST00000366688.3	+	1	807	c.54C>G	c.(52-54)tgC>tgG	p.C18W	RAB4A_ENST00000366690.4_3'UTR	NM_006542.3	NP_006533.1	Q15513	SPHAR_HUMAN	S-phase response (cyclin related)	18					DNA replication (GO:0006260)							Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TTGAGTTTTGCTTTTTTTATG	0.289																																																	0													71	71	71					1																	229440935		2199	4292	6491	SO:0001583	missense	0			BC070287	CCDS1576.1	1q42.13	2009-03-11			ENSG00000213029	ENSG00000213029			16957	protein-coding gene	gene with protein product						7799938	Standard	NM_006542		Approved		uc001htk.4	Q15513	OTTHUMG00000058947	ENST00000366688.3:c.54C>G	1.37:g.229440935C>G	ENSP00000355649:p.Cys18Trp		Q4EW09|Q6NSB9	Missense_Mutation	SNP	NULL	p.C18W	ENST00000366688.3	37	c.54	CCDS1576.1	1	.	.	.	.	.	.	.	.	.	.	C	2.469	-0.322330	0.05350	.	.	ENSG00000213029	ENST00000366688	.	.	.	4.27	-3.63	0.04529	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.09310	N	1	P	0.42123	0.771	B	0.42653	0.394	T	0.22138	-1.0225	7	0.87932	D	0	.	5.9786	0.19395	0.0:0.271:0.1494:0.5796	.	18	Q15513	SPHAR_HUMAN	W	18	.	ENSP00000355649:C18W	C	+	3	2	SPHAR	227507558	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.969000	0.03813	-1.054000	0.03214	-0.345000	0.07892	TGC	SPHAR	-	NULL	ENSG00000213029		0.289	SPHAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPHAR	HGNC	protein_coding	OTTHUMT00000130347.1	-	0	28	0	C	NM_006542		229440935	1	tier1	-	no_errors	ENST00000366688	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.000	G	G	229440935	C	G	229440935	3	3	62	1	0	0	0	0	1	0	0	0	15092	805	28	5	56	5	SPHAR	1	229440935	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	19672549	229440935	19809686	9	17477											
RYR2	6262	genome.wustl.edu	37	chr1	237777617	237777617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtacattgtccccatgaCggaggagacgaagagcatca	13	6	12	10	3	1	3	1	1	0	2	2	7	2	4	2	2	2	2	2	2	2	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:237777617C>T	ENST00000366574.2	+	37	5506	c.5189C>T	c.(5188-5190)aCg>aTg	p.T1730M	RYR2_ENST00000360064.6_Missense_Mutation_p.T1728M|RYR2_ENST00000542537.1_Missense_Mutation_p.T1714M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1730	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T1728M(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCCCCATGACGGAGGAGACG	0.547																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											62	61	61					1																	237777617		2119	4241	6360	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5189C>T	1.37:g.237777617C>T	ENSP00000355533:p.Thr1730Met		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T1728M	ENST00000366574.2	37	c.5183	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470495	0.84533	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.74737	-0.87;-0.87;-0.87	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000008	D	0.84356	0.5454	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	D	0.84547	0.0642	10	0.52906	T	0.07	.	19.2592	0.93961	0.0:1.0:0.0:0.0	.	1730	Q92736	RYR2_HUMAN	M	1730;1728;1714	ENSP00000355533:T1730M;ENSP00000353174:T1728M;ENSP00000443798:T1714M	ENSP00000353174:T1728M	T	+	2	0	RYR2	235844240	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	7.776000	0.85560	2.563000	0.86464	0.650000	0.86243	ACG	RYR2	-	NULL	ENSG00000198626		0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	69	0	C	NM_001035		237777617	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	23.08	50	15	SNP	1.000	T	T	237777617	C	T	237777617	3	4	62	1	0	0	0	0	1	0	0	0	13814	536	19	1	5335	1	RYR2	1	237777617	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	8336682	237777617	11473004	10	17478											
OR2M7	391196	genome.wustl.edu	37	chr1	248487210	248487210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaatgacagccagaataaCtcgagcataggaagtgatga	16	7	12	6	1	0	5	0	4	0	1	1	7	0	6	1	1	3	1	1	1	5	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr1:248487210C>T	ENST00000317965.2	-	1	689	c.661G>A	c.(661-663)Gtt>Att	p.V221I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCAGAATAACTCGAGCATAG	0.428																																																	0													325	307	313					1																	248487210		2203	4300	6503	SO:0001583	missense	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.661G>A	1.37:g.248487210C>T	ENSP00000324557:p.Val221Ile		B2RNL0|Q6IEX6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V221I	ENST00000317965.2	37	c.661	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.006124	0.00426	.	.	ENSG00000177186	ENST00000317965	T	0.00005	9.78	1.55	0.563	0.17296	GPCR, rhodopsin-like superfamily (1);	0.620826	0.12134	N	0.496471	T	0.00039	0.0001	N	0.00572	-1.36	0.09310	N	1	P	0.49447	0.924	D	0.64237	0.923	T	0.51052	-0.8754	10	0.02654	T	1	.	3.5808	0.07952	0.0:0.3474:0.0:0.6526	.	221	Q8NG81	OR2M7_HUMAN	I	221	ENSP00000324557:V221I	ENSP00000324557:V221I	V	-	1	0	OR2M7	246553833	0.906000	0.30813	0.125000	0.21846	0.142000	0.21351	1.660000	0.37397	0.850000	0.35239	0.194000	0.17425	GTT	OR2M7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177186		0.428	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	-	0	162	0	C	NM_001004691		248487210	-1	tier1	-	no_errors	ENST00000317965	ensembl	human	known	74_37	missense	29.81	113	48	SNP	0.310	T	T	248487210	C	T	248487210	3	4	62	1	0	0	0	0	1	0	0	0	11053	565	20	3	280	3	OR2M7	1	248487210	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	10709593	248487210	763411	11	17479											
ASAP2	8853	genome.wustl.edu	37	chr2	9437513	9437513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagatgacccagatttagGaagtgcgttcctgaagttct	11	11	11	8	1	1	4	0	2	1	2	2	6	2	5	2	1	1	2	2	1	3	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:9437513G>T	ENST00000281419.3	+	3	624	c.284G>T	c.(283-285)gGa>gTa	p.G95V	ASAP2_ENST00000315273.4_Missense_Mutation_p.G95V	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	95					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCAGATTTAGGAAGTGCGTTC	0.468																																																	0													127	109	115					2																	9437513		2203	4300	6503	SO:0001583	missense	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.284G>T	2.37:g.9437513G>T	ENSP00000281419:p.Gly95Val		D6W4Y8	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.G95V	ENST00000281419.3	37	c.284	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647863	0.87958	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.05081	3.5;3.5	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.956;0.991	T	0.00379	-1.1777	10	0.72032	D	0.01	.	19.3857	0.94555	0.0:0.0:1.0:0.0	.	95;95	O43150-2;O43150	.;ASAP2_HUMAN	V	95	ENSP00000281419:G95V;ENSP00000316404:G95V	ENSP00000281419:G95V	G	+	2	0	ASAP2	9354964	1.000000	0.71417	0.534000	0.28014	0.842000	0.47809	9.860000	0.99555	2.573000	0.86826	0.650000	0.86243	GGA	ASAP2	-	NULL	ENSG00000151693		0.468	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	0	58	0	G	NM_003887		9437513	1	tier1	-	no_errors	ENST00000281419	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	9437513	G	T	9437513	3	4	62	1	0	0	0	0	1	0	0	0	1012	1174	41	3	294	3	ASAP2	2	9437513	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		9437513	233761860	12	17480											
OTOF	9381	genome.wustl.edu	37	chr2	26700314	26700314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcaggacttgaggcgctcCcggtcaagcctggtgcggga	7	7	16	11	3	1	1	1	1	0	0	2	3	2	3	2	5	3	2	2	5	1	1	rs142933937	byFrequency	TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:26700314C>T	ENST00000272371.2	-	20	2502	c.2376G>A	c.(2374-2376)cgG>cgA	p.R792R	OTOF_ENST00000402415.3_Silent_p.R102R|OTOF_ENST00000339598.3_Silent_p.R45R|OTOF_ENST00000338581.6_Silent_p.R45R|OTOF_ENST00000403946.3_Silent_p.R792R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	792					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGGCGCTCCCGGTCAAGCC	0.662																																					GBM(102;732 1451 20652 24062 31372)												0								C	,,,	0,4342		0,0,2171	32	32	32		135,2376,306,135	0.6	1	2	dbSNP_134	32	2,8574		1,0,4287	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	OTOF	NM_004802.3,NM_194248.2,NM_194322.2,NM_194323.2	,,,	1,0,6458	TT,TC,CC		0.0233,0.0,0.0155	,,,	45/1231,792/1998,102/1308,45/1231	26700314	2,12916	2171	4288	6459	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2376G>A	2.37:g.26700314C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R792	ENST00000272371.2	37	c.2376	CCDS1725.1	2																																																																																			OTOF	-	NULL	ENSG00000115155		0.662	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	88	0	C			26700314	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	silent	5.56	51	3	SNP	1.000	T	T	26700314	C	T	26700314	2	4	62	1	0	0	0	0	0	0	0	1	11342	610	22	3		3	OTOF	2	26700314	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	17262801	26700314	216499059	13	17481											
NLRC4	58484	genome.wustl.edu	37	chr2	32477568	32477568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttacaggactctgaacccTttttcaaaatcatgtgaatg	12	13	8	8	0	3	2	2	2	1	0	3	3	3	3	1	2	2	1	1	2	5	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:32477568T>C	ENST00000404025.2	-	4	670	c.182A>G	c.(181-183)aAg>aGg	p.K61R	NLRC4_ENST00000342905.6_Missense_Mutation_p.K61R|NLRC4_ENST00000402280.1_Missense_Mutation_p.K61R|NLRC4_ENST00000360906.5_Missense_Mutation_p.K61R			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	61	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTCTGAACCCTTTTTCAAAAT	0.398																																																	0													135	127	130					2																	32477568		2203	4300	6503	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.182A>G	2.37:g.32477568T>C	ENSP00000385090:p.Lys61Arg		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.K61R	ENST00000404025.2	37	c.182	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489736	0.44249	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	4.1	2.9	0.33743	DEATH-like (2);Caspase Recruitment (2);	0.000000	0.48286	D	0.000184	T	0.26048	0.0635	L	0.34521	1.04	0.30094	N	0.808046	P;D	0.56287	0.939;0.975	P;P	0.56042	0.538;0.79	T	0.24584	-1.0156	9	0.13108	T	0.6	-16.6244	8.2538	0.31743	0.1781:0.0:0.0:0.8219	.	61;61	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	R	61	ENSP00000354159:K61R;ENSP00000385428:K61R;ENSP00000339666:K61R;ENSP00000385090:K61R	ENSP00000339666:K61R	K	-	2	0	NLRC4	32331072	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	1.904000	0.39868	0.706000	0.31912	0.338000	0.21704	AAG	NLRC4	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000091106		0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2		0	45	0	T	NM_021209		32477568	-1			no_errors	ENST00000360906	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	C	C	32477568	T	C	32477568	3	2	62	1	0	0	0	0	1	0	0	0	10508	1609	56	4	2920	4	NLRC4	2	32477568	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	5777254	32477568	210721805	14	17482											
NAT8	9027	genome.wustl.edu	37	chr2	73868104	73868104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccttagaagaagggaggtGgtagatgaaatgaactgtat	15	10	13	3	0	0	5	0	2	0	3	0	6	0	6	1	3	2	2	1	3	8	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:73868104G>A	ENST00000272425.3	-	2	801	c.652C>T	c.(652-654)Cac>Tac	p.H218Y		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GAAGGGAGGTGGTAGATGAAA	0.488																																																	0													53	52	52					2																	73868104		2203	4300	6503	SO:0001583	missense	0			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"N-acetyltransferase 8"			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.652C>T	2.37:g.73868104G>A	ENSP00000272425:p.His218Tyr			Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.H218Y	ENST00000272425.3	37	c.652	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.620773	0.00828	.	.	ENSG00000144035	ENST00000272425	T	0.30981	1.51	3.72	0.772	0.18510	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	2.979050	0.00931	N	0.002717	T	0.23532	0.0569	N	0.22421	0.69	0.09310	N	1	B	0.17038	0.02	B	0.15484	0.013	T	0.24621	-1.0155	10	0.54805	T	0.06	3.2332	6.5254	0.22299	0.3474:0.0:0.6526:0.0	.	218	Q9UHE5	NAT8_HUMAN	Y	218	ENSP00000272425:H218Y	ENSP00000272425:H218Y	H	-	1	0	NAT8	73721612	0.000000	0.05858	0.002000	0.10522	0.110000	0.19582	-0.509000	0.06336	0.018000	0.15052	0.644000	0.83932	CAC	NAT8	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000144035		0.488	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	-	0	39	0	G	NM_003960		73868104	-1	tier1	-	no_errors	ENST00000272425	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.018	A	A	73868104	G	A	73868104	3	1	62	1	0	0	0	0	1	0	0	0	10217	1348	47	3	35	3	NAT8	2	73868104	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	41390536	73868104	169331269	15	17483											
RNF103	7844	genome.wustl.edu	37	chr2	86847539	86847539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggtactagaaaccgattCggatgcttcttcttccttga	9	15	8	9	2	2	2	0	1	2	1	4	4	3	3	2	2	3	2	2	2	3	8			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:86847539C>T	ENST00000237455.4	-	2	1248	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	AC015971.2_ENST00000426549.1_RNA|CHMP3_ENST00000439940.2_Missense_Mutation_p.E16K|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.E16K|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	94					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E94K(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GAAACCGATTCGGATGCTTCT	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											93	90	91					2																	86847539		2203	4300	6503	SO:0001583	missense	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.280G>A	2.37:g.86847539C>T	ENSP00000237455:p.Glu94Lys		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.E94K	ENST00000237455.4	37	c.280	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.412267	0.96072	.	.	ENSG00000115561;ENSG00000249884;ENSG00000239305	ENST00000439940;ENST00000440757;ENST00000237455	D;T;T	0.92249	-3.0;-1.25;0.83	5.96	5.96	0.96718	.	0.047576	0.85682	D	0.000000	D	0.90525	0.7031	L	0.51422	1.61	0.58432	D	0.99999	P;D	0.54964	0.935;0.969	B;B	0.40636	0.212;0.335	D	0.91155	0.4956	10	0.62326	D	0.03	-14.7187	20.422	0.99049	0.0:1.0:0.0:0.0	.	16;94	Q9Y3E7-3;O00237	.;RN103_HUMAN	K	16;94;94	ENSP00000405575:E16K;ENSP00000392995:E94K;ENSP00000237455:E94K	ENSP00000237455:E94K	E	-	1	0	RNF103;VPS24;RNF103-VPS24	86701050	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	5.484000	0.66844	2.832000	0.97577	0.655000	0.94253	GAA	RNF103	-	NULL	ENSG00000239305		0.423	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	-	0	54	0	C	NM_005667		86847539	-1	tier1	-	no_errors	ENST00000237455	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	86847539	C	T	86847539	3	4	62	1	0	0	0	0	1	0	0	0	13468	893	31	1	1789	1	RNF103	2	86847539	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	12979435	86847539	156351834	16	17484											
TBC1D8	11138	genome.wustl.edu	37	chr2	101650137	101650137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtctcgttctatctcctCggttaccaggcagcatttcc	6	13	8	14	2	3	0	0	0	3	0	7	0	4	0	3	3	2	4	3	3	2	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:101650137C>T	ENST00000376840.4	-	10	1641	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	TBC1D8_ENST00000409318.1_Missense_Mutation_p.E563K			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	548	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCTATCTCCTCGGTTACCAGG	0.557																																																	0													101	114	110					2																	101650137		2198	4300	6498	SO:0001583	missense	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1642G>A	2.37:g.101650137C>T	ENSP00000366036:p.Glu548Lys		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E563K	ENST00000376840.4	37	c.1687	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.521531	0.96416	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.11495	2.77;2.77	5.12	5.12	0.69794	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000002	T	0.27349	0.0671	L	0.41961	1.31	0.58432	D	0.999999	D;D	0.89917	0.992;1.0	D;D	0.77557	0.911;0.99	T	0.00726	-1.1592	10	0.48119	T	0.1	-34.0326	18.5783	0.91163	0.0:1.0:0.0:0.0	.	563;548	B7Z6L4;O95759	.;TBCD8_HUMAN	K	548;563	ENSP00000366036:E548K;ENSP00000386856:E563K	ENSP00000366036:E548K	E	-	1	0	TBC1D8	101016569	1.000000	0.71417	0.941000	0.38009	0.894000	0.52154	7.610000	0.82949	2.377000	0.81083	0.655000	0.94253	GAG	TBC1D8	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000204634		0.557	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	-	0	89	0	C	NM_007063		101650137	-1	tier1	-	no_errors	ENST00000409318	ensembl	human	known	74_37	missense	26.51	61	22	SNP	1.000	T	T	101650137	C	T	101650137	3	4	62	1	0	0	0	0	1	0	0	0	15672	893	31	1	1824	1	TBC1D8	2	101650137	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	14802598	101650137	141549236	17	17485											
GPD2	2820	genome.wustl.edu	37	chr2	157426715	157426715	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttgtgtcagaatttccAtatattgaagcagaggtatg	11	14	10	6	1	2	3	1	1	1	2	3	3	3	3	1	1	1	2	1	1	5	6			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:157426715A>G	ENST00000310454.6	+	12	1965	c.1593A>G	c.(1591-1593)ccA>ccG	p.P531P	GPD2_ENST00000409125.4_Silent_p.P304P|GPD2_ENST00000409674.1_Silent_p.P531P|GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Silent_p.P531P	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	531					camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CAGAATTTCCATATATTGAAG	0.408																																																	0													194	181	186					2																	157426715		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"EF-hand domain containing"	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.1593A>G	2.37:g.157426715A>G			A8K4V0|B3KSA9|Q59FR1|Q9HAP9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep	p.P531	ENST00000310454.6	37	c.1593	CCDS2202.1	2																																																																																			GPD2	-	NULL	ENSG00000115159		0.408	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	-	0	48	0	A			157426715	1	tier1	-	no_errors	ENST00000310454	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.951	G	G	157426715	A	G	157426715	2	3	62	1	0	0	0	0	0	0	0	1	6632	204	8	4		4	GPD2	2	157426715	Silent	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	55776578	157426715	85772658	18	17486											
GRB14	2888	genome.wustl.edu	37	chr2	165353533	165353533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccatccacaagtcctTgctgaataatcaatcgctga	12	11	5	13	1	1	2	1	2	0	0	4	2	3	2	3	0	2	2	3	0	5	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:165353533T>C	ENST00000263915.3	-	12	1905	c.1367A>G	c.(1366-1368)cAa>cGa	p.Q456R	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Missense_Mutation_p.Q369R	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	456	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CACAAGTCCTTGCTGAATAAT	0.378																																																	0													76	73	74					2																	165353533		2203	4300	6503	SO:0001583	missense	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1367A>G	2.37:g.165353533T>C	ENSP00000263915:p.Gln456Arg		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.Q456R	ENST00000263915.3	37	c.1367	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978141	0.74360	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;D	0.92397	0.99;0.99;-3.03	5.91	5.91	0.95273	SH2 motif (4);	0.048839	0.85682	D	0.000000	D	0.93595	0.7955	L	0.38649	1.16	0.80722	D	1	P;D	0.53885	0.84;0.963	P;D	0.64595	0.578;0.927	D	0.94329	0.7560	10	0.72032	D	0.01	-15.5725	16.3364	0.83064	0.0:0.0:0.0:1.0	.	369;456	B7Z7F9;Q14449	.;GRB14_HUMAN	R	456;369;411	ENSP00000263915:Q456R;ENSP00000443699:Q369R;ENSP00000416786:Q411R	ENSP00000263915:Q456R	Q	-	2	0	GRB14	165061779	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.841000	0.86834	2.252000	0.74401	0.528000	0.53228	CAA	GRB14	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000115290		0.378	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	-	0	55	0	T			165353533	-1	tier1	-	no_errors	ENST00000263915	ensembl	human	known	74_37	missense	21.92	57	16	SNP	1.000	C	C	165353533	T	C	165353533	3	2	62	1	0	0	0	0	1	0	0	0	6784	1812	63	4	267	4	GRB14	2	165353533	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	7926818	165353533	77845840	19	17487											
LRP2	4036	genome.wustl.edu	37	chr2	170044680	170044680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggttttactaatgcagCgcccgttctgacaggtaaac	11	10	10	10	3	1	1	0	1	1	0	1	2	1	1	1	2	4	4	1	2	5	5	rs143078432		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:170044680C>T	ENST00000263816.3	-	49	9413	c.9128G>A	c.(9127-9129)cGc>cAc	p.R3043H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3043	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3043H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACTAATGCAGCGCCCGTTCTG	0.517																																																	1	Substitution - Missense(1)	ovary(1)						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	142	134	137		9128	0.2	0.3	2	dbSNP_134	137	0,8600		0,0,4300	no	missense	LRP2	NM_004525.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	3043/4656	170044680	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9128G>A	2.37:g.170044680C>T	ENSP00000263816:p.Arg3043His		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R3043H	ENST00000263816.3	37	c.9128	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394317	0.83011	2.27E-4	0.0	ENSG00000081479	ENST00000263816	D	0.96041	-3.89	5.68	0.217	0.15264	.	0.436137	0.26159	N	0.025985	D	0.90570	0.7044	L	0.43757	1.38	0.80722	D	1	P	0.45283	0.855	B	0.38562	0.276	D	0.85430	0.1148	10	0.54805	T	0.06	.	8.5804	0.33626	0.2541:0.6156:0.0:0.1303	.	3043	P98164	LRP2_HUMAN	H	3043	ENSP00000263816:R3043H	ENSP00000263816:R3043H	R	-	2	0	LRP2	169752926	1.000000	0.71417	0.322000	0.25334	0.874000	0.50279	2.327000	0.43858	-0.018000	0.14079	0.650000	0.86243	CGC	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	99	0	C	NM_004525		170044680	-1	tier1	rs143078432	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	20.37	86	22	SNP	0.961	T	T	170044680	C	T	170044680	3	4	62	1	0	0	0	0	1	0	0	0	8991	768	27	1	4963	1	LRP2	2	170044680	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	4691147	170044680	73154693	20	17488											
ITGA4	3676	genome.wustl.edu	37	chr2	182339903	182339904	+	Frame_Shift_Ins	INS	-	-	A																															agacttgtgggcatagatggINSaaaaatatattttacataaa																								rs201063607		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:182339903_182339904insA	ENST00000397033.2	+	4	874_875	c.444_445insA	c.(445-447)aaafs	p.K149fs	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Frame_Shift_Ins_p.K149fs	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	149					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GGCATAGATGGAAAAATATATT	0.406																																																	0																																										SO:0001589	frameshift_variant	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.449dupA	2.37:g.182339908_182339908dupA	ENSP00000380227:p.Lys149fs		D3DPG4|Q7Z4L6	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.N149fs	ENST00000397033.2	37	c.444_445	CCDS42788.1	2																																																																																			ITGA4	-	NULL	ENSG00000115232		0.406	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1		0	69	0	-			182339904	1	tier1		no_errors	ENST00000397033	ensembl	human	known	74_37	frame_shift_ins	15.48	71	13	INS	1.000:1.000	A	A	182339904	-	A	182339903	7	5	62	1	0	1	1	0	0	0	0	0	7905	1183	41	0	458	0	ITGA4	2	182339903	Frame_Shift_Ins	INS	-	TCGA-L5-A4OO-01A-11D-A27G-09	12295223	182339903	60859470	21	17489											
ERBB4	2066	genome.wustl.edu	37	chr2	212530156	212530156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggacatttttccacacagTttgggccatctttaaaatga	11	14	7	9	0	1	1	0	1	1	0	2	2	2	2	2	2	0	1	2	2	2	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:212530156T>C	ENST00000342788.4	-	15	2073	c.1763A>G	c.(1762-1764)aAc>aGc	p.N588S	ERBB4_ENST00000402597.1_Missense_Mutation_p.N588S|ERBB4_ENST00000436443.1_Missense_Mutation_p.N588S	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	588	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TTCCACACAGTTTGGGCCATC	0.423										TSP Lung(8;0.080)																																							0													120	109	113					2																	212530156		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1763A>G	2.37:g.212530156T>C	ENSP00000342235:p.Asn588Ser		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N588S	ENST00000342788.4	37	c.1763	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.79|13.79	2.340961|2.340961	0.41498|0.41498	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.40756|.	1.02;1.02;1.02|.	5.26|5.26	4.08|4.08	0.47627|0.47627	Growth factor, receptor (1);|.	0.040621|.	0.85682|.	D|.	0.000000|.	T|T	0.48519|0.48519	0.1504|0.1504	N|N	0.25031|0.25031	0.7|0.7	0.58432|0.58432	D|D	0.999991|0.999991	P;B;P;D;P|.	0.59357|.	0.833;0.122;0.463;0.985;0.951|.	B;B;B;P;B|.	0.47206|.	0.437;0.022;0.079;0.541;0.34|.	T|T	0.35375|0.35375	-0.9791|-0.9791	10|5	0.35671|.	T|.	0.21|.	.|.	11.697|11.697	0.51548|0.51548	0.1327:0.0:0.0:0.8673|0.1327:0.0:0.0:0.8673	.|.	588;588;447;588;588|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	S|A	588|588	ENSP00000342235:N588S;ENSP00000403204:N588S;ENSP00000385565:N588S|.	ENSP00000342235:N588S|.	N|T	-|-	2|1	0|0	ERBB4|ERBB4	212238401|212238401	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	7.990000|7.990000	0.88215|0.88215	0.920000|0.920000	0.36970|0.36970	0.533000|0.533000	0.62120|0.62120	AAC|ACT	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000178568		0.423	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	146	0	T	NM_001042599		212530156	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	19.54	140	34	SNP	1.000	C	C	212530156	T	C	212530156	3	2	62	1	0	0	0	0	1	0	0	0	5225	1725	60	4	2219	4	ERBB4	2	212530156	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	30190253	212530156	30669217	22	17490											
DNER	92737	genome.wustl.edu	37	chr2	230450599	230450599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtgattattccccaaggcGagcatctcctccaggaggac	11	8	10	12	1	1	1	0	1	1	0	4	4	3	3	4	3	1	1	4	3	3	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:230450599G>A	ENST00000341772.4	-	4	956	c.822C>T	c.(820-822)ctC>ctT	p.L274L	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	274					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCCCCAAGGCGAGCATCTCCT	0.502																																																	0													84	82	83					2																	230450599		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.822C>T	2.37:g.230450599G>A			A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Silent	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L274	ENST00000341772.4	37	c.822	CCDS33390.1	2																																																																																			DNER	-	NULL	ENSG00000187957		0.502	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	-	0	43	0	G	NM_139072		230450599	-1	tier1	-	no_errors	ENST00000341772	ensembl	human	known	74_37	silent	25.49	38	13	SNP	0.000	A	A	230450599	G	A	230450599	2	1	62	1	0	0	0	0	0	0	0	1	4681	1045	37	1		1	DNER	2	230450599	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	17920443	230450599	12748774	23	17491											
MSL3L2	151507	genome.wustl.edu	37	chr2	234775170	234775170	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctatgcacaggtgtcttCttttccaggtgcaggaacag	8	12	11	10	0	2	0	0	0	2	0	3	1	3	1	1	3	4	3	1	3	2	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr2:234775170C>T	ENST00000438684.1	-	0	944					NR_024322.1		P0C860	MS3L2_HUMAN	male-specific lethal 3 homolog (Drosophila) pseudogene 1						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CAGGTGTCTTCTTTTCCAGGT	0.522																																																	0													108	87	93					2																	234775170		692	1591	2283			0			BI831020		2q37.1	2011-03-21	2011-03-21	2011-03-21	ENSG00000224287	ENSG00000224287			17837	pseudogene	pseudogene			"male-specific lethal 3-like 2 (Drosophila)"	MSL3L2			Standard	NR_024322		Approved		uc010znf.2	P0C860	OTTHUMG00000059126		2.37:g.234775170C>T				RNA	SNP	-	NULL	ENST00000438684.1	37	NULL		2																																																																																			MSL3P1	-	-	ENSG00000224287		0.522	MSL3P1-002	KNOWN	basic	processed_transcript	MSL3P1	HGNC	pseudogene	OTTHUMT00000131002.2		0	26	0	C	NR_024322		234775170	-1			no_errors	ENST00000438684	ensembl	human	known	74_37	rna	10.34	26	3	SNP	0.967	T	T	234775170	C	T	234775170	1	4	62	0	1	0	0	0	0	0	0	0	9918	912	32	3		3	MSL3L2	2	234775170	RNA	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	4324571	234775170	8424203	24	17492											
TGFBR2	7048	genome.wustl.edu	37	chr3	30732996	30732996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccagtgtgtggcagaaCgcttcagtgagctggagcat	9	8	14	10	1	1	2	1	1	0	1	1	3	1	3	1	2	4	4	1	2	1	1	rs104893809		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:30732996C>T	ENST00000295754.5	+	7	1991	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R562C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	537	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2; has a negative effect on TGF-beta signaling; dbSNP:rs28934869). {ECO:0000269|PubMed:15235604}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R537C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TGTGGCAGAACGCTTCAGTGA	0.577																																																	1	Substitution - Missense(1)	pancreas(1)	GRCh37	CM042122|CM064325	TGFBR2	M	rs104893809						83	80	81					3																	30732996		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1609C>T	3.37:g.30732996C>T	ENSP00000295754:p.Arg537Cys		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.R562C	ENST00000295754.5	37	c.1684	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869682	0.91587	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93604	-3.25;-3.25	5.91	5.91	0.95273	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96972	0.9011	M	0.87038	2.855	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97216	0.9874	9	0.87932	D	0	.	15.0515	0.71877	0.142:0.858:0.0:0.0	rs28934869	537;562	P37173;D2JYI1	TGFR2_HUMAN;.	C	537;562;367	ENSP00000295754:R537C;ENSP00000351905:R562C	ENSP00000295754:R537C	R	+	1	0	TGFBR2	30708000	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.930000	0.70104	2.803000	0.96430	0.650000	0.86243	CGC	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163513		0.577	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0	35	0	C			30732996	1			no_errors	ENST00000359013	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	30732996	C	T	30732996	3	4	62	1	0	0	0	0	1	0	0	0	15869	536	19	1	1714	1	TGFBR2	3	30732996	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09		30732996	167289434	25	17493											
TTC21A	199223	genome.wustl.edu	37	chr3	39178769	39178769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttacccacattcagactCcagccagacccagctgcggc	9	8	8	16	1	1	2	1	0	0	2	2	2	2	2	4	1	4	2	4	1	1	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:39178769C>A	ENST00000431162.2	+	25	3496	c.3362C>A	c.(3361-3363)tCc>tAc	p.S1121Y	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.S1122Y|TTC21A_ENST00000440121.1_Missense_Mutation_p.S1073Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1121										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATTCAGACTCCAGCCAGACC	0.602																																																	0													26	31	29					3																	39178769		2013	4179	6192	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3362C>A	3.37:g.39178769C>A	ENSP00000398211:p.Ser1121Tyr		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S1122Y	ENST00000431162.2	37	c.3365	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	7.763	0.705897	0.15172	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.61627	0.09;0.09;0.21	4.27	-4.66	0.03329	.	4.738900	0.00447	N	0.000094	T	0.44519	0.1297	L	0.48642	1.525	0.09310	N	1	P;B;B	0.35242	0.492;0.184;0.116	B;B;B	0.33042	0.157;0.075;0.034	T	0.35699	-0.9778	10	0.62326	D	0.03	11.5699	1.3173	0.02110	0.1988:0.3829:0.1057:0.3127	.	1073;1122;1121	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Y	1122;1104;1121;1073	ENSP00000301819:S1122Y;ENSP00000398211:S1121Y;ENSP00000410882:S1073Y	ENSP00000301819:S1122Y	S	+	2	0	TTC21A	39153773	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	0.002000	0.13061	-0.699000	0.05077	0.205000	0.17691	TCC	TTC21A	-	NULL	ENSG00000168026		0.602	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1	-	0	74	0	C	NM_145755		39178769	1	tier1	-	no_errors	ENST00000301819	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	A	A	39178769	C	A	39178769	3	1	62	1	0	0	0	0	1	0	0	0	16736	855	30	3	3463	3	TTC21A	3	39178769	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	8445773	39178769	158843661	26	17494											
TGM4	7047	genome.wustl.edu	37	chr3	44948486	44948486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgaccgccatccgcaaagGtgacatctttattgtctatg	10	12	8	11	2	2	2	0	2	2	0	3	2	3	2	3	1	0	1	3	1	3	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:44948486G>T	ENST00000296125.4	+	10	1189	c.1121G>T	c.(1120-1122)gGt>gTt	p.G374V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	374					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATCCGCAAAGGTGACATCTTT	0.552																																																	0													115	104	107					3																	44948486		2203	4300	6503	SO:0001583	missense	0			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1121G>T	3.37:g.44948486G>T	ENSP00000296125:p.Gly374Val		Q16707|Q96QN4	Missense_Mutation	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G374V	ENST00000296125.4	37	c.1121	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932248	0.73442	.	.	ENSG00000163810	ENST00000296125	T	0.23754	1.89	2.03	2.03	0.26663	.	0.000000	0.44483	U	0.000444	T	0.56307	0.1976	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68017	-0.5520	10	0.87932	D	0	.	12.655	0.56782	0.0:0.0:1.0:0.0	.	374	P49221	TGM4_HUMAN	V	374	ENSP00000296125:G374V	ENSP00000296125:G374V	G	+	2	0	TGM4	44923490	1.000000	0.71417	0.003000	0.11579	0.519000	0.34347	7.837000	0.86796	1.039000	0.40074	0.460000	0.39030	GGT	TGM4	-	NULL	ENSG00000163810		0.552	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	-	0	88	0	G	NM_003241		44948486	1	tier1	-	no_errors	ENST00000296125	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.934	T	T	44948486	G	T	44948486	3	4	62	1	0	0	0	0	1	0	0	0	15879	1261	44	3	1159	3	TGM4	3	44948486	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	5769717	44948486	153073944	27	17495											
PTPN23	25930	genome.wustl.edu	37	chr3	47449841	47449841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgctccccacagccagttCatggattcaatgcagttgga	9	11	10	11	0	2	0	2	0	0	0	3	2	3	2	3	2	3	5	3	2	1	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:47449841C>G	ENST00000265562.4	+	15	1268	c.1191C>G	c.(1189-1191)ttC>ttG	p.F397L	PTPN23_ENST00000431726.1_Missense_Mutation_p.F271L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	397					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAGCCAGTTCATGGATTCAA	0.587																																																	0													84	78	80					3																	47449841		2203	4300	6503	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1191C>G	3.37:g.47449841C>G	ENSP00000265562:p.Phe397Leu		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.F397L	ENST00000265562.4	37	c.1191	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202622	0.58234	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.02631	4.22	4.2	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.04092	0.0114	L	0.52206	1.635	0.58432	D	0.999997	B;P	0.49447	0.002;0.924	B;B	0.43950	0.006;0.437	T	0.46871	-0.9160	10	0.62326	D	0.03	-24.2561	7.6644	0.28421	0.0:0.8031:0.0:0.1969	.	271;397	B4DST5;Q9H3S7	.;PTN23_HUMAN	L	362;397	ENSP00000265562:F397L	ENSP00000265562:F397L	F	+	3	2	PTPN23	47424845	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	2.542000	0.45744	1.009000	0.39289	-0.262000	0.10625	TTC	PTPN23	-	NULL	ENSG00000076201		0.587	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	-	0	88	0	C	NM_015466		47449841	1	tier1	-	no_errors	ENST00000265562	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	G	G	47449841	C	G	47449841	3	3	62	1	0	0	0	0	1	0	0	0	12833	825	29	5	1249	5	PTPN23	3	47449841	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	2501355	47449841	150572589	28	17496											
SENP7	57337	genome.wustl.edu	37	chr3	101059041	101059041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccttagtaggtggtggaGgatatacaatcaaccttaaa	13	10	9	9	0	1	0	1	0	0	0	1	2	1	2	3	4	2	1	3	4	8	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:101059041G>T	ENST00000394095.2	-	16	2308	c.2255C>A	c.(2254-2256)cCt>cAt	p.P752H	SENP7_ENST00000314261.7_Missense_Mutation_p.P686H|SENP7_ENST00000394091.1_Missense_Mutation_p.P588H|SENP7_ENST00000358203.3_Missense_Mutation_p.P588H|SENP7_ENST00000394094.2_Missense_Mutation_p.P687H|SENP7_ENST00000348610.3_Missense_Mutation_p.P719H	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	752						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGGTGGTGGAGGATATACAAT	0.308																																																	0													48	45	46					3																	101059041		2202	4284	6486	SO:0001583	missense	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2255C>A	3.37:g.101059041G>T	ENSP00000377655:p.Pro752His		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.P752H	ENST00000394095.2	37	c.2255	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827282	0.71143	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.26	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	T	0.61237	-0.7103	10	0.87932	D	0	-14.3512	14.0862	0.64957	0.0744:0.0:0.9256:0.0	.	588;686;719;752	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	H	752;687;686;588;588;719	ENSP00000377655:P752H;ENSP00000377654:P687H;ENSP00000313624:P686H;ENSP00000377651:P588H;ENSP00000350936:P588H;ENSP00000342159:P719H	ENSP00000313624:P686H	P	-	2	0	SENP7	102541731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.681000	0.91228	1.344000	0.45657	0.563000	0.77884	CCT	SENP7	-	NULL	ENSG00000138468		0.308	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	HGNC	protein_coding	OTTHUMT00000313957.2		0	65	0	G	NM_020654		101059041	-1			no_errors	ENST00000394095	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	101059041	G	T	101059041	3	4	62	1	0	0	0	0	1	0	0	0	14096	1000	35	3	933	3	SENP7	3	101059041	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	53609200	101059041	96963389	29	17497											
PCNP	57092	genome.wustl.edu	37	chr3	101304301	101304301	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctaaagaaactgttccAactcttgctccaaaaactct	15	10	4	12	0	2	1	0	0	2	1	4	1	4	1	3	0	5	2	3	0	7	3	rs533548683	byFrequency	TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:101304301A>G	ENST00000265260.3	+	3	421	c.300A>G	c.(298-300)ccA>ccG	p.P100P	PCNP_ENST00000296024.5_Silent_p.P100P|PCNP_ENST00000486406.1_Intron|PCNP_ENST00000469941.1_5'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	100					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						AAACTGTTCCAACTCTTGCTC	0.279																																																	0													90	89	89					3																	101304301		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.300A>G	3.37:g.101304301A>G			B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Silent	SNP	NULL	p.P100	ENST00000265260.3	37	c.300	CCDS2942.1	3																																																																																			PCNP	-	NULL	ENSG00000081154		0.279	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNP	HGNC	protein_coding	OTTHUMT00000353338.2	-	0	61	0	A	NM_020357		101304301	1	tier1	-	no_errors	ENST00000265260	ensembl	human	known	74_37	silent	20.27	59	15	SNP	1.000	G	G	101304301	A	G	101304301	2	3	62	1	0	0	0	0	0	0	0	1	11628	117	5	4		4	PCNP	3	101304301	Silent	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	245260	101304301	96718129	30	17498											
MORC1	27136	genome.wustl.edu	37	chr3	108698360	108698360	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgtgagtaaatatctttAccttaacttagacttcagtt	13	17	5	6	0	2	2	1	1	1	1	2	2	2	2	1	0	2	2	1	0	7	9			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:108698360A>T	ENST00000483760.1	-	23	2458		c.e23+1		MORC1_ENST00000232603.5_Splice_Site					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AAATATCTTTACCTTAACTTA	0.373																																																	0													106	114	112					3																	108698360		2203	4300	6503	SO:0001630	splice_region_variant	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2414+1T>A	3.37:g.108698360A>T				Splice_Site	SNP	-	e24+2	ENST00000483760.1	37	c.2477+2		3	.	.	.	.	.	.	.	.	.	.	A	16.15	3.040497	0.55003	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1498	0.48451	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC1	110181050	1.000000	0.71417	0.998000	0.56505	0.583000	0.36354	3.944000	0.56629	2.141000	0.66446	0.533000	0.62120	.	MORC1	-	-	ENSG00000114487		0.373	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0	33	0	A		Intron	108698360	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	splice_site	30.95	28	13	SNP	1.000	T	T	108698360	A	T	108698360	5	4	62	1	0	0	0	0	0	0	1	0	9739	405	14	5	495	5	MORC1	3	108698360	Splice_Site	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	7394059	108698360	89324070	31	17499											
GATA2	2624	genome.wustl.edu	37	chr3	128205135	128205135	+	Frame_Shift_Del	DEL	T	T	-																															gcagcggcagagagggctgcTttgcccccgtccagccaggg																										TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:128205135delT	ENST00000341105.2	-	3	637	c.306delA	c.(304-306)aaafs	p.K102fs	RP11-475N22.4_ENST00000473958.1_RNA|GATA2_ENST00000430265.2_Frame_Shift_Del_p.K102fs|GATA2_ENST00000487848.1_Frame_Shift_Del_p.K102fs|RP11-475N22.4_ENST00000468377.1_RNA|RP11-475N22.4_ENST00000464242.1_RNA	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	102					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGCTGCTTTGCCCCCGT	0.682			Mis		AML(CML blast transformation)																																			Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													10	12	12					3																	128205135		2184	4273	6457	SO:0001589	frameshift_variant	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.306delA	3.37:g.128205135delT	ENSP00000345681:p.Lys102fs		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.A103fs	ENST00000341105.2	37	c.306	CCDS3049.1	3																																																																																			GATA2	-	pirsf_TF_GATA-1/2/3	ENSG00000179348		0.682	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1		0	9	0	T	NM_032638		128205135	-1	tier1		no_errors	ENST00000341105	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.998	-	-	128205135	T	-	128205135	7	5	62	1	0	1	0	1	0	0	0	0	6279	1606	56	0	1152	0	GATA2	3	128205135	Frame_Shift_Del	DEL	T	TCGA-L5-A4OO-01A-11D-A27G-09	19506775	128205135	69817295	32	17500											
ASTE1	28990	genome.wustl.edu	37	chr3	130735055	130735055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatccccatctggagacAggactgccactgacagaaga	14	6	9	12	0	1	4	0	1	1	3	2	6	2	5	3	2	2	0	3	2	2	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:130735055A>G	ENST00000264992.3	-	5	2083	c.1642T>C	c.(1642-1644)Tgt>Cgt	p.C548R	ATP2C1_ENST00000328560.8_3'UTR|ASTE1_ENST00000514044.1_Missense_Mutation_p.C548R|ATP2C1_ENST00000507488.2_Silent_p.T912T|ATP2C1_ENST00000422190.2_Silent_p.T928T|ATP2C1_ENST00000513801.1_Silent_p.T912T|ATP2C1_ENST00000533801.2_Silent_p.T933T|ATP2C1_ENST00000504381.1_Silent_p.T883T|ATP2C1_ENST00000393221.4_Silent_p.T962T|ATP2C1_ENST00000359644.3_Silent_p.T938T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	548					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ATCTGGAGACAGGACTGCCAC	0.512																																																	0													165	145	152					3																	130735055		2203	4300	6503	SO:0001583	missense	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1642T>C	3.37:g.130735055A>G	ENSP00000264992:p.Cys548Arg		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N	p.C548R	ENST00000264992.3	37	c.1642	CCDS3068.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.550702|4.550702	0.86127|0.86127	.|.	.|.	ENSG00000034533|ENSG00000017260	ENST00000514044;ENST00000264992|ENST00000504612	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71854|0.71854	0.3389|0.3389	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.71020|0.71020	-0.4713|-0.4713	8|4	0.87932|.	D|.	0|.	-17.0561|-17.0561	15.6639|15.6639	0.77209|0.77209	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	548;548|.	D6RG30;Q2TB18|.	.;ASTE1_HUMAN|.	R|R	548|892	.|.	ENSP00000264992:C548R|.	C|Q	-|+	1|2	0|0	ASTE1|ATP2C1	132217745|132217745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	5.416000|5.416000	0.66417|0.66417	2.176000|2.176000	0.68965|0.68965	0.533000|0.533000	0.62120|0.62120	TGT|CAG	ASTE1	-	NULL	ENSG00000034533		0.512	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1	-	0	51	0	A	NM_014065		130735055	-1	tier1	-	no_errors	ENST00000264992	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	G	G	130735055	A	G	130735055	3	3	62	1	0	0	0	0	1	0	0	0	1063	188	7	4	405	4	ASTE1	3	130735055	Missense_Mutation	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	2529920	130735055	67287375	33	17501											
XRN1	54464	genome.wustl.edu	37	chr3	142037736	142037736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agataattttacttggcaaaCggtcattgtctaaaaaaaga	17	12	7	5	1	2	2	1	0	1	2	2	2	2	2	0	2	2	1	0	2	7	6			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:142037736C>T	ENST00000264951.4	-	38	4528	c.4411G>A	c.(4411-4413)Gtt>Att	p.V1471I	XRN1_ENST00000392981.2_Missense_Mutation_p.V1472I	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1471					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACTTGGCAAACGGTCATTGTC	0.348																																																	0													78	76	77					3																	142037736		2203	4300	6503	SO:0001583	missense	0			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.4411G>A	3.37:g.142037736C>T	ENSP00000264951:p.Val1471Ile		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.V1471I	ENST00000264951.4	37	c.4411	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	10.91	1.485590	0.26686	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.36520	1.25;1.29	4.85	2.04	0.26737	.	0.238496	0.33854	N	0.004489	T	0.15912	0.0383	N	0.12182	0.205	0.80722	D	1	B;B	0.33238	0.403;0.282	B;B	0.19148	0.024;0.011	T	0.08827	-1.0703	10	0.27082	T	0.32	-15.0349	10.3607	0.43991	0.0:0.7871:0.0:0.2129	.	1472;1471	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	I	1471;1472	ENSP00000264951:V1471I;ENSP00000376707:V1472I	ENSP00000264951:V1471I	V	-	1	0	XRN1	143520426	0.963000	0.33076	1.000000	0.80357	0.764000	0.43329	0.727000	0.25999	1.021000	0.39600	-0.244000	0.11960	GTT	XRN1	-	pirsf_5_3_exoribonuclease_1	ENSG00000114127		0.348	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	-	0	72	0	C	NM_019001		142037736	-1	tier1	-	no_errors	ENST00000264951	ensembl	human	known	74_37	missense	14.67	64	11	SNP	0.988	T	T	142037736	C	T	142037736	3	4	62	1	0	0	0	0	1	0	0	0	17508	536	19	1	729	1	XRN1	3	142037736	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	11302681	142037736	55984694	34	17502											
TSC22D2	9819	genome.wustl.edu	37	chr3	150127200	150127200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagtgtcaccacggcccaGgtggccactagcatcaccga	10	5	10	16	2	2	0	2	0	0	0	2	1	2	0	5	3	1	1	5	3	1	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:150127200G>T	ENST00000361875.3	+	1	1079	c.63G>T	c.(61-63)caG>caT	p.Q21H	TSC22D2_ENST00000361136.2_Missense_Mutation_p.Q21H	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	21					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCACGGCCCAGGTGGCCACTA	0.617																																																	0													50	43	45					3																	150127200		2203	4300	6503	SO:0001583	missense	0			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.63G>T	3.37:g.150127200G>T	ENSP00000354543:p.Gln21His		D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.Q21H	ENST00000361875.3	37	c.63	CCDS3149.1	3	.	.	.	.	.	.	.	.	.	.	g	17.27	3.346946	0.61183	.	.	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.24538	1.85;1.85	4.55	4.55	0.56014	.	0.000000	0.49916	D	0.000131	T	0.43634	0.1256	L	0.39245	1.2	0.40457	D	0.980204	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.47368	-0.9123	10	0.87932	D	0	.	16.9644	0.86281	0.0:0.0:1.0:0.0	.	21;21	O75157-2;O75157	.;T22D2_HUMAN	H	21	ENSP00000354543:Q21H;ENSP00000354893:Q21H	ENSP00000354893:Q21H	Q	+	3	2	TSC22D2	151609890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.019000	0.93662	2.092000	0.63282	0.645000	0.84053	CAG	TSC22D2	-	NULL	ENSG00000196428		0.617	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2		0	35	0	G	NM_014779		150127200	1			no_errors	ENST00000361875	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	150127200	G	T	150127200	3	4	62	1	0	0	0	0	1	0	0	0	16656	991	35	3	65	3	TSC22D2	3	150127200	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	8089464	150127200	47895230	35	17503											
PDCD10	11235	genome.wustl.edu	37	chr3	167437888	167437888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgactgcatagaggggcaTagaaaccatggatgtggtct	12	9	13	7	0	1	3	0	1	1	2	1	4	1	4	1	4	2	2	1	4	3	2	rs138275885		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr3:167437888T>C	ENST00000392750.2	-	3	475	c.58A>G	c.(58-60)Atg>Gtg	p.M20V	PDCD10_ENST00000461494.1_Missense_Mutation_p.M20V|PDCD10_ENST00000492396.1_Intron|PDCD10_ENST00000473645.2_Missense_Mutation_p.M20V|PDCD10_ENST00000487678.1_5'Flank|PDCD10_ENST00000487947.2_Missense_Mutation_p.M20V|PDCD10_ENST00000470131.1_Missense_Mutation_p.M20V|PDCD10_ENST00000497056.2_Missense_Mutation_p.M20V|PDCD10_ENST00000471885.1_Missense_Mutation_p.M20V	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	20					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TAGAGGGGCATAGAAACCATG	0.388																																																	0								T	VAL/MET,VAL/MET,VAL/MET	0,4406		0,0,2203	254	240	245		58,58,58	6.2	1	3	dbSNP_134	245	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	PDCD10	NM_007217.3,NM_145859.1,NM_145860.1	21,21,21	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign	20/213,20/213,20/213	167437888	1,13005	2203	4300	6503	SO:0001583	missense	0			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"cerebral cavernous malformations 3"	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.58A>G	3.37:g.167437888T>C	ENSP00000376506:p.Met20Val		A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.M20V	ENST00000392750.2	37	c.58	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	T	16.80	3.223202	0.58668	0.0	1.16E-4	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.35856	0.0946	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07233	-1.0783	10	0.34782	T	0.22	-5.7105	15.3933	0.74767	0.0:0.0:0.0:1.0	.	20	Q9BUL8	PDC10_HUMAN	V	20	ENSP00000376506:M20V;ENSP00000418317:M20V;ENSP00000420553:M20V;ENSP00000420021:M20V;ENSP00000417202:M20V;ENSP00000417118:M20V;ENSP00000420266:M20V;ENSP00000417876:M20V;ENSP00000420424:M20V;ENSP00000420014:M20V;ENSP00000418160:M20V	ENSP00000376506:M20V	M	-	1	0	PDCD10	168920582	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.660000	0.83776	2.371000	0.80710	0.533000	0.62120	ATG	PDCD10	-	pfam_DUF1241	ENSG00000114209		0.388	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	-	0	68	0	T	NM_007217		167437888	-1	tier1	rs138275885	no_errors	ENST00000392750	ensembl	human	known	74_37	missense	25.26	71	24	SNP	1.000	C	C	167437888	T	C	167437888	3	2	62	1	0	0	0	0	1	0	0	0	11655	1406	49	4	608	4	PDCD10	3	167437888	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	17310688	167437888	30584542	36	17504											
FAM193A	8603	genome.wustl.edu	37	chr4	2674072	2674072	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatccaccccaccttgtaTgcaacgccccccttcacaca	9	8	3	21	1	2	0	2	0	0	0	3	0	3	0	7	0	2	2	7	0	2	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr4:2674072T>G	ENST00000324666.5	+	11	1782	c.1431T>G	c.(1429-1431)taT>taG	p.Y477*	FAM193A_ENST00000502458.1_Nonsense_Mutation_p.Y499*|FAM193A_ENST00000382839.3_Nonsense_Mutation_p.Y477*|FAM193A_ENST00000545951.1_Nonsense_Mutation_p.Y477*|FAM193A_ENST00000505311.1_Nonsense_Mutation_p.Y477*	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	477										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CCACCTTGTATGCAACGCCCC	0.522																																																	0													111	79	90					4																	2674072		2203	4300	6503	SO:0001587	stop_gained	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1431T>G	4.37:g.2674072T>G	ENSP00000324587:p.Tyr477*		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Nonsense_Mutation	SNP	NULL	p.Y477*	ENST00000324666.5	37	c.1431	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	T	38	7.116910	0.98074	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	.	.	.	4.82	-3.87	0.04218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.73	14.6981	0.69136	0.0:0.6496:0.0:0.3504	.	.	.	.	X	477;477;477;499;331	.	ENSP00000324587:Y477X	Y	+	3	2	FAM193A	2643870	0.213000	0.23551	0.032000	0.17829	0.802000	0.45316	0.129000	0.15830	-0.925000	0.03775	-0.248000	0.11899	TAT	FAM193A	-	NULL	ENSG00000125386		0.522	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	-	0	42	0	T	NM_003704		2674072	1	tier1	-	no_errors	ENST00000324666	ensembl	human	known	74_37	nonsense	40.00	24	16	SNP	0.065	G	G	2674072	T	G	2674072	4	3	62	1	0	0	0	0	0	1	0	0	5543	1471	51	4	1465	4	FAM193A	4	2674072	Nonsense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09		2674072	188480204	37	17505											
GABRA4	2557	genome.wustl.edu	37	chr4	46995416	46995416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcggacagagcgatcGcgggtaccttcttggcagaa	8	6	14	13	5	1	2	0	0	1	2	2	4	1	3	3	4	2	2	3	4	2	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr4:46995416G>A	ENST00000264318.3	-	1	1008	c.26C>T	c.(25-27)gCg>gTg	p.A9V	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	9					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAGAGCGATCGCGGGTACCTT	0.587																																					Ovarian(6;283 369 8234 12290 33402)												0													107	99	102					4																	46995416		2203	4300	6503	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.26C>T	4.37:g.46995416G>A	ENSP00000264318:p.Ala9Val		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.A9V	ENST00000264318.3	37	c.26	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	G	13.22	2.170754	0.38315	.	.	ENSG00000109158	ENST00000264318	T	0.79940	-1.32	4.5	2.65	0.31530	.	0.696041	0.14374	N	0.323611	T	0.63236	0.2494	N	0.12182	0.205	0.28699	N	0.904169	B	0.10296	0.003	B	0.04013	0.001	T	0.54200	-0.8329	10	0.28530	T	0.3	.	10.2916	0.43599	0.0:0.4264:0.5736:0.0	.	9	P48169	GBRA4_HUMAN	V	9	ENSP00000264318:A9V	ENSP00000264318:A9V	A	-	2	0	GABRA4	46690173	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	2.481000	0.45215	1.087000	0.41251	-0.283000	0.09986	GCG	GABRA4	-	NULL	ENSG00000109158		0.587	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	-	0	61	0	G			46995416	-1	tier1	-	no_errors	ENST00000264318	ensembl	human	known	74_37	missense	25.84	65	23	SNP	1.000	A	A	46995416	G	A	46995416	3	1	62	1	0	0	0	0	1	0	0	0	6187	1087	38	1	1674	1	GABRA4	4	46995416	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	44321344	46995416	144158860	38	17506											
PF4	5196	genome.wustl.edu	37	chr4	74847138	74847138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcaaggactcacatcaGttgggcagtggggcagtggg	9	7	17	8	0	2	0	2	0	0	0	2	1	2	1	0	5	1	4	0	5	1	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr4:74847138G>T	ENST00000296029.3	-	2	384	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	72					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	ACTCACATCAGTTGGGCAGTG	0.607																																																	0													87	81	83					4																	74847138		2203	4300	6503	SO:0001583	missense	0			M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"chemokine (C-X-C motif) ligand 4"	173460	"platelet factor 4"			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.214C>A	4.37:g.74847138G>T	ENSP00000296029:p.Leu72Met		Q53X61|Q9UC64|Q9UC65	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.L72M	ENST00000296029.3	37	c.214	CCDS3562.1	4	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066866	0.55539	.	.	ENSG00000163737	ENST00000296029	T	0.05081	3.5	2.48	-2.7	0.06004	CXC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.956894	0.08652	N	0.913809	T	0.12008	0.0292	M	0.67953	2.075	0.20196	N	0.999923	P	0.36086	0.536	B	0.43623	0.425	T	0.38329	-0.9666	10	0.66056	D	0.02	.	11.0225	0.47726	0.0:0.7123:0.2877:0.0	.	72	P02776	PLF4_HUMAN	M	72	ENSP00000296029:L72M	ENSP00000296029:L72M	L	-	1	2	PF4	75066002	0.000000	0.05858	0.508000	0.27688	0.609000	0.37215	-2.385000	0.01062	-0.317000	0.08677	0.305000	0.20034	CTG	PF4	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	ENSG00000163737		0.607	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PF4	HGNC	protein_coding	OTTHUMT00000252282.1	-	0	54	0	G			74847138	-1	tier1	-	no_errors	ENST00000296029	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.310	T	T	74847138	G	T	74847138	3	4	62	1	0	0	0	0	1	0	0	0	11791	1020	36	3	99	3	PF4	4	74847138	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	27851722	74847138	116307138	39	17507											
PCDH10	57575	genome.wustl.edu	37	chr4	134071343	134071343	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatggtggaaggagtCttttcccagcttcactacac	8	12	10	11	0	3	0	1	0	2	0	4	3	4	3	1	4	2	1	1	4	2	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr4:134071343C>A	ENST00000264360.5	+	1	874	c.48C>A	c.(46-48)gtC>gtA	p.V16V	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	16					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGGAAGGAGTCTTTTCCCAGC	0.493																																																	0													136	129	132					4																	134071343		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.48C>A	4.37:g.134071343C>A			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V16	ENST00000264360.5	37	c.48	CCDS34063.1	4																																																																																			PCDH10	-	NULL	ENSG00000138650		0.493	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	62	0	C	NM_032961		134071343	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	17.28	67	14	SNP	1.000	A	A	134071343	C	A	134071343	2	1	62	1	0	0	0	0	0	0	0	1	11546	900	32	3		3	PCDH10	4	134071343	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	59224205	134071343	57082933	40	17508											
DCHS2	54798	genome.wustl.edu	37	chr4	155241544	155241544	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtacctgatgactcatcTagcataaacgtcatgttttc	11	14	6	10	1	3	2	2	2	1	0	4	2	3	2	1	0	3	3	1	0	4	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr4:155241544T>C	ENST00000357232.4	-	14	3641	c.3642A>G	c.(3640-3642)ctA>ctG	p.L1214L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1214	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGACTCATCTAGCATAAACG	0.383																																																	0													170	152	158					4																	155241544		2203	4300	6503	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3642A>G	4.37:g.155241544T>C			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1214	ENST00000357232.4	37	c.3642	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	82	0	T	NM_001142552		155241544	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	silent	18.60	70	16	SNP	0.772	C	C	155241544	T	C	155241544	2	2	62	1	0	0	0	0	0	0	0	1	4297	1509	53	4		4	DCHS2	4	155241544	Silent	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	21170201	155241544	35912732	41	17509											
DDX60L	91351	genome.wustl.edu	37	chr4	169351738	169351738	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttcccataaaattgctgaTaatcctgaatctttttcagg	12	16	5	8	0	2	2	1	2	1	0	4	2	4	2	2	1	1	1	2	1	4	6			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr4:169351738T>A	ENST00000511577.1	-	13	1815	c.1568A>T	c.(1567-1569)tAt>tTt	p.Y523F	DDX60L_ENST00000260184.7_Missense_Mutation_p.Y523F|DDX60L_ENST00000505890.1_Missense_Mutation_p.Y523F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	523							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAATTGCTGATAATCCTGAAT	0.348																																																	0													51	46	48					4																	169351738		1816	4071	5887	SO:0001583	missense	0			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1568A>T	4.37:g.169351738T>A	ENSP00000422423:p.Tyr523Phe		Q96ND6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y523F	ENST00000511577.1	37	c.1568		4	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.483269	0.01027	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.12361	2.69;2.69;2.69;3.42	3.54	-7.08	0.01558	.	0.865878	0.09312	U	0.819401	T	0.04407	0.0121	N	0.12443	0.215	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.42481	-0.9449	10	0.06757	T	0.87	.	5.0552	0.14529	0.5463:0.1951:0.0:0.2586	.	523;523;523	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	F	523;523;523;251	ENSP00000260184:Y523F;ENSP00000422423:Y523F;ENSP00000422202:Y523F;ENSP00000421026:Y251F	ENSP00000260184:Y523F	Y	-	2	0	DDX60L	169588313	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.184000	0.03076	-1.272000	0.02427	-0.538000	0.04264	TAT	DDX60L	-	NULL	ENSG00000181381		0.348	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	DDX60L	HGNC	protein_coding	OTTHUMT00000364839.1	-	0	41	0	T	NM_001012967		169351738	-1	tier1	-	no_errors	ENST00000260184	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.000	A	A	169351738	T	A	169351738	3	1	62	1	0	0	0	0	1	0	0	0	4388	1406	49	5	3656	5	DDX60L	4	169351738	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	14110194	169351738	21802538	42	17510											
LIFR	3977	genome.wustl.edu	37	chr5	38484942	38484942	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgacagccactgccactggGatgagaatggcaataattaa	15	8	10	8	0	0	2	0	2	0	1	0	4	0	3	2	2	2	1	2	2	4	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:38484942G>T	ENST00000263409.4	-	18	2688	c.2526C>A	c.(2524-2526)atC>atA	p.I842I	LIFR_ENST00000453190.2_Silent_p.I842I	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	842					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGCCACTGGGATGAGAATGG	0.383			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													69	66	67					5																	38484942		2203	4300	6503	SO:0001819	synonymous_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2526C>A	5.37:g.38484942G>T			Q6LCD9	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.I842	ENST00000263409.4	37	c.2526	CCDS3927.1	5																																																																																			LIFR	-	NULL	ENSG00000113594		0.383	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1		0	55	0	G	NM_002310		38484942	-1			no_errors	ENST00000263409	ensembl	human	known	74_37	silent	5.00	57	3	SNP	1.000	T	T	38484942	G	T	38484942	2	4	62	1	0	0	0	0	0	0	0	1	8809	1164	41	3		3	LIFR	5	38484942	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		38484942	142430318	43	17511											
SPZ1	84654	genome.wustl.edu	37	chr5	79616605	79616605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacaatgaaaagaaacagCagatgataatggaaaaccag	23	4	9	5	0	0	5	0	2	0	3	0	6	0	6	1	1	3	1	1	1	8	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:79616605C>T	ENST00000296739.4	+	1	816	c.571C>T	c.(571-573)Cag>Tag	p.Q191*		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	191	Basic motif. {ECO:0000255}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAGAAACAGCAGATGATAAT	0.353																																																	0													80	73	75					5																	79616605		1823	4086	5909	SO:0001587	stop_gained	0				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.571C>T	5.37:g.79616605C>T	ENSP00000369611:p.Gln191*		B2RA21|Q8N4P1|Q8N7E9	Nonsense_Mutation	SNP	NULL	p.Q191*	ENST00000296739.4	37	c.571	CCDS43336.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.517392	0.97629	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	.	.	.	3.72	1.88	0.25563	.	0.620126	0.14328	N	0.326540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-1.396	4.8081	0.13329	0.2072:0.3907:0.4021:0.0	.	.	.	.	X	191	.	ENSP00000369611:Q191X	Q	+	1	0	SPZ1	79652361	0.003000	0.15002	0.011000	0.14972	0.387000	0.30353	0.012000	0.13287	0.186000	0.20125	-0.319000	0.08680	CAG	SPZ1	-	NULL	ENSG00000164299		0.353	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPZ1	HGNC	protein_coding	OTTHUMT00000369322.1		0	39	0	C	NM_032567		79616605	1			no_errors	ENST00000296739	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	0.045	T	T	79616605	C	T	79616605	4	4	62	1	0	0	0	0	0	1	0	0	15174	711	25	3	573	3	SPZ1	5	79616605	Nonsense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	41131663	79616605	101298655	44	17512											
GPR98	84059	genome.wustl.edu	37	chr5	89968456	89968456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacaccatttcacagattGaaactgatggcattaattac	14	14	5	8	0	1	3	1	2	0	1	1	3	1	3	1	1	3	1	1	1	4	6			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:89968456G>A	ENST00000405460.2	+	22	4942	c.4846G>A	c.(4846-4848)Gaa>Aaa	p.E1616K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1616	Calx-beta 11. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCACAGATTGAAACTGATGG	0.403																																																	0													197	180	185					5																	89968456		1886	4107	5993	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4846G>A	5.37:g.89968456G>A	ENSP00000384582:p.Glu1616Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1616K	ENST00000405460.2	37	c.4846	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434126	0.83776	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.30182	1.54	6.07	3.24	0.37175	Na-Ca exchanger/integrin-beta4 (1);	0.085415	0.85682	D	0.000000	T	0.29556	0.0737	N	0.22421	0.69	0.80722	D	1	P	0.42296	0.775	P	0.52066	0.689	T	0.04811	-1.0925	10	0.62326	D	0.03	.	7.1749	0.25738	0.0631:0.2311:0.5861:0.1196	.	1616	Q8WXG9	GPR98_HUMAN	K	1616	ENSP00000384582:E1616K	ENSP00000296619:E1616K	E	+	1	0	GPR98	90004212	1.000000	0.71417	0.987000	0.45799	0.961000	0.63080	5.043000	0.64208	0.400000	0.25396	0.655000	0.94253	GAA	GPR98	-	pfam_Calx_beta	ENSG00000164199		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	75	0	G	NM_032119		89968456	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A	A	89968456	G	A	89968456	3	1	62	1	0	0	0	0	1	0	0	0	6748	1291	45	3	4932	3	GPR98	5	89968456	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	10351851	89968456	90946804	45	17513											
FAM170A	340069	genome.wustl.edu	37	chr5	118970289	118970289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaagatgagcaggaggaGgaaaatggaaatgagaagga	19	3	15	4	0	0	3	0	2	0	2	0	9	0	8	1	5	1	1	1	5	5	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:118970289G>C	ENST00000515256.1	+	3	1018	c.846G>C	c.(844-846)gaG>gaC	p.E282D				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	282	Glu-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						agcaggaggaggaaaatggaa	0.542																																																	0													97	113	107					5																	118970289		2034	4193	6227	SO:0001583	missense	0			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.846G>C	5.37:g.118970289G>C	ENSP00000422684:p.Glu282Asp		Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	NULL	p.E282D	ENST00000515256.1	37	c.846		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.087|7.087	0.571387|0.571387	0.13623|0.13623	.|.	.|.	ENSG00000164334|ENSG00000164334	ENST00000515256|ENST00000296787	T|.	0.35421|.	1.31|.	4.39|4.39	-3.45|-3.45	0.04781|0.04781	.|.	0.477177|.	0.15519|.	N|.	0.258154|.	T|T	0.35008|0.35008	0.0917|0.0917	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B|.	0.11235|.	0.002;0.004|.	B;B|.	0.13407|.	0.002;0.009|.	T|T	0.37197|0.37197	-0.9716|-0.9716	9|5	.|.	.|.	.|.	-0.0209|-0.0209	1.9827|1.9827	0.03429|0.03429	0.248:0.382:0.2402:0.1298|0.248:0.382:0.2402:0.1298	.|.	235;282|.	D6RIE9;A1A519|.	.;F170A_HUMAN|.	D|T	282|217	ENSP00000422684:E282D|.	.|.	E|R	+|+	3|2	2|0	FAM170A|FAM170A	118998188|118998188	0.696000|0.696000	0.27757|0.27757	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	1.150000|1.150000	0.31639|0.31639	-0.765000|-0.765000	0.04645|0.04645	-1.331000|-1.331000	0.01271|0.01271	GAG|AGG	FAM170A	-	NULL	ENSG00000164334		0.542	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	FAM170A	HGNC	protein_coding	OTTHUMT00000371126.1		0	25	0	G	NM_182761		118970289	1			no_errors	ENST00000515256	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.000	C	C	118970289	G	C	118970289	3	2	62	1	0	0	0	0	1	0	0	0	5508	991	35	5	856	5	FAM170A	5	118970289	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	29001833	118970289	61944971	46	17514											
FSTL4	23105	genome.wustl.edu	37	chr5	132553042	132553042	+	Frame_Shift_Del	DEL	T	T	-																															actggcagggctgggttgcaTttttttctctttgaggacag																										TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:132553042delT	ENST00000265342.7	-	13	1736	c.1487delA	c.(1486-1488)aatfs	p.N496fs	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	496						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGTTGCATTTTTTTCTCT	0.493																																																	0													87	85	86					5																	132553042		2203	4300	6503	SO:0001589	frameshift_variant	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1487delA	5.37:g.132553042delT	ENSP00000265342:p.Asn496fs		Q8TBU0|Q9UPU1	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.N496fs	ENST00000265342.7	37	c.1487	CCDS34238.1	5																																																																																			FSTL4	-	NULL	ENSG00000053108		0.493	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1		0	34	0	T	XM_048786		132553042	-1			no_errors	ENST00000265342	ensembl	human	known	74_37	frame_shift_del	15.52	49	9	DEL	0.000	0	-	132553042	T	-	132553042	7	5	62	1	0	1	0	1	0	0	0	0	6103	1493	52	0	1057	0	FSTL4	5	132553042	Frame_Shift_Del	DEL	T	TCGA-L5-A4OO-01A-11D-A27G-09	13582753	132553042	48362218	47	17515											
TRPC7	57113	genome.wustl.edu	37	chr5	135610523	135610523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagttaggatgagcaacGaactgtaaaaacaaaacaaa	21	6	8	6	1	0	2	0	2	0	0	0	4	0	3	0	1	5	3	0	1	9	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:135610523G>T	ENST00000513104.1	-	4	1248	c.966C>A	c.(964-966)ttC>ttA	p.F322L	TRPC7_ENST00000426057.2_Intron|TRPC7_ENST00000355180.3_Missense_Mutation_p.F261L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	322					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATGAGCAACGAACTGTaaaa	0.413																																																	0													44	40	42					5																	135610523		1914	4139	6053	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.966C>A	5.37:g.135610523G>T	ENSP00000426070:p.Phe322Leu		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F322L	ENST00000513104.1	37	c.966	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.368446|3.368446	0.61513|0.61513	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000513104;ENST00000265193|ENST00000378459	T;T|.	0.72615|.	-0.67;-0.67|.	5.38|5.38	4.5|4.5	0.54988|0.54988	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78033|0.78033	0.4220|0.4220	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.997;0.999|.	D;D|.	0.72075|.	0.943;0.976|.	T|T	0.80683|0.80683	-0.1273|-0.1273	10|5	0.87932|.	D|.	0|.	-23.8548|-23.8548	8.9356|8.9356	0.35697|0.35697	0.2443:0.0:0.7557:0.0|0.2443:0.0:0.7557:0.0	.|.	261;322|.	F5H5U9;Q9HCX4|.	.;TRPC7_HUMAN|.	L|S	261;322;322|261	ENSP00000347312:F261L;ENSP00000426070:F322L|.	ENSP00000265193:F322L|.	F|R	-|-	3|1	2|0	TRPC7|TRPC7	135638422|135638422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.718000|3.718000	0.54919|0.54919	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	TTC|CGT	TRPC7	-	tigrfam_TRP_channel	ENSG00000069018		0.413	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1		0	24	0	G	NM_020389		135610523	-1			no_errors	ENST00000513104	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	135610523	G	T	135610523	3	4	62	1	0	0	0	0	1	0	0	0	16632	1049	37	2	1658	2	TRPC7	5	135610523	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	3057481	135610523	45304737	48	17516											
PCDHA6	56142	genome.wustl.edu	37	chr5	140209709	140209709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggccaggctccaaaggCgtcatcacgggcgtcggtgg	7	6	17	11	4	2	0	2	0	0	0	4	1	3	0	2	6	0	1	2	6	1	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:140209709C>T	ENST00000529310.1	+	1	2147	c.2033C>T	c.(2032-2034)gCg>gTg	p.A678V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCAAAGGCGTCATCACGG	0.677																																																	0													38	44	42					5																	140209709		2199	4298	6497	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2033C>T	5.37:g.140209709C>T	ENSP00000433378:p.Ala678Val		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A678V	ENST00000529310.1	37	c.2033	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634901	0.29068	.	.	ENSG00000081842	ENST00000529310	T	0.51071	0.72	3.98	2.17	0.27698	Cadherin (1);	0.211384	0.22969	U	0.053457	T	0.39118	0.1066	L	0.55743	1.74	0.09310	N	0.999999	B;B	0.21753	0.012;0.06	B;B	0.18263	0.021;0.009	T	0.32188	-0.9916	10	0.49607	T	0.09	.	7.6841	0.28530	0.0:0.7348:0.0:0.2652	.	678;678	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	V	678	ENSP00000433378:A678V	ENSP00000433378:A678V	A	+	2	0	PCDHA6	140189893	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.568000	0.23623	0.450000	0.26774	0.306000	0.20318	GCG	PCDHA6	-	pfscan_Cadherin	ENSG00000081842		0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	-	0	85	0	C	NM_018909		140209709	1	tier1	-	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	26.04	71	25	SNP	0.002	T	T	140209709	C	T	140209709	3	4	62	1	0	0	0	0	1	0	0	0	11567	768	27	1	2035	1	PCDHA6	5	140209709	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	4599186	140209709	40705551	49	17517											
PCDHA10	56139	genome.wustl.edu	37	chr5	140236546	140236546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagaaataaaagtaaatGatgctattgactttgaggac	16	10	11	4	1	0	4	0	3	0	1	0	6	0	5	0	2	1	2	0	2	6	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:140236546G>T	ENST00000307360.5	+	1	913	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D305Y|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D305N(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGTAAATGATGCTATTGA	0.383																																																	2	Substitution - Missense(2)	kidney(2)											92	89	90					5																	140236546		2196	4270	6466	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.913G>T	5.37:g.140236546G>T	ENSP00000304234:p.Asp305Tyr		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D305Y	ENST00000307360.5	37	c.913	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844294	0.51164	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.52295	4.65;0.67	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61098	0.2320	M	0.63843	1.955	0.09310	N	0.999999	D;D;D	0.60575	0.988;0.982;0.975	P;P;P	0.57204	0.815;0.722;0.796	T	0.54938	-0.8218	9	0.87932	D	0	.	14.5539	0.68086	0.0:0.1466:0.8534:0.0	.	305;305;305	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Y	305	ENSP00000421030:D305Y;ENSP00000304234:D305Y	ENSP00000304234:D305Y	D	+	1	0	PCDHA10	140216730	0.969000	0.33509	0.018000	0.16275	0.994000	0.84299	5.302000	0.65733	2.383000	0.81215	0.561000	0.74099	GAT	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.383	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2		0	22	0	G	NM_018901		140236546	1			no_errors	ENST00000307360	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.225	T	T	140236546	G	T	140236546	3	4	62	1	0	0	0	0	1	0	0	0	11559	1290	45	3	915	3	PCDHA10	5	140236546	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	26837	140236546	40678714	50	17518											
PCDHA13	56136	genome.wustl.edu	37	chr5	140263491	140263491	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcgtgccgcctctgggCagcaacgtgacgctgcaggt	5	8	15	13	4	2	1	0	1	2	0	2	1	2	1	2	3	4	4	2	3	1	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:140263491C>A	ENST00000289272.2	+	1	1638	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.G546G|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	546	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTCTGGGCAGCAACGTGA	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)												0													72	77	76					5																	140263491		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1638C>A	5.37:g.140263491C>A			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G546	ENST00000289272.2	37	c.1638	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	179	0	C	NM_018904		140263491	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	silent	21.29	159	43	SNP	1.000	A	A	140263491	C	A	140263491	2	1	62	1	0	0	0	0	0	0	0	1	11562	697	25	3		3	PCDHA13	5	140263491	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	26945	140263491	40651769	51	17519											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140734952	140734952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgggagctggcggagcGcggagtccgcatcgtctcca	5	5	16	15	6	1	0	0	0	1	0	4	3	2	3	4	4	2	2	4	4	0	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:140734952G>A	ENST00000571252.1	+	1	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGGAGCGCGGAGTCCGC	0.637																																																	0													52	63	59					5																	140734952		2191	4300	6491	SO:0001583	missense	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.185G>A	5.37:g.140734952G>A	ENSP00000458570:p.Arg62His		Q9Y5D3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R62H	ENST00000571252.1	37	c.185	CCDS58979.1	5																																																																																			PCDHGA4	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000262576		0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	-	0	71	0	G	NM_018917		140734952	1	tier1	-	no_errors	ENST00000571252	ensembl	human	known	74_37	missense	22.78	61	18	SNP	1.000	A	A	140734952	G	A	140734952	3	1	62	1	0	0	0	0	1	0	0	0	11595	1087	38	1	187	1	PCDHGA4	5	140734952	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	471461	140734952	40180308	52	17520											
KIF4B	285643	genome.wustl.edu	37	chr5	154393463	154393463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtaagagtggcactgcGttgtcgccctctggtcccca	5	11	11	14	2	1	1	0	0	1	1	4	1	3	1	4	2	1	3	4	2	1	2	rs200942753		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:154393463G>A	ENST00000435029.4	+	1	204	c.44G>A	c.(43-45)cGt>cAt	p.R15H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	15	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGGCACTGCGTTGTCGCCCT	0.547																																																	0								G	HIS/ARG	0,4406		0,0,2203	123	117	119		44	0.6	0.6	5		119	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIF4B	NM_001099293.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	15/1235	154393463	1,13005	2203	4300	6503	SO:0001583	missense	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.44G>A	5.37:g.154393463G>A	ENSP00000387875:p.Arg15His			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R15H	ENST00000435029.4	37	c.44	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	16.75	3.208770	0.58343	0.0	1.16E-4	ENSG00000226650	ENST00000435029	D	0.86562	-2.14	1.48	0.582	0.17412	Kinesin, motor domain (4);	.	.	.	.	D	0.94644	0.8273	H	0.98754	4.32	0.54753	D	0.999984	D	0.65815	0.995	D	0.64776	0.929	D	0.91504	0.5221	9	0.66056	D	0.02	.	6.0528	0.19794	0.1884:0.0:0.8116:0.0	.	15	Q2VIQ3	KIF4B_HUMAN	H	15	ENSP00000387875:R15H	ENSP00000387875:R15H	R	+	2	0	KIF4B	154373656	0.998000	0.40836	0.634000	0.29324	0.848000	0.48234	4.868000	0.63021	0.193000	0.20303	-0.244000	0.11960	CGT	KIF4B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000226650		0.547	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	-	0	98	0	G			154393463	1	tier1	rs200942753	no_errors	ENST00000435029	ensembl	human	known	74_37	missense	7.62	97	8	SNP	0.995	A	A	154393463	G	A	154393463	3	1	62	1	0	0	0	0	1	0	0	0	8331	1145	40	1	46	1	KIF4B	5	154393463	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	13658511	154393463	26521797	53	17521											
TSPAN17	26262	genome.wustl.edu	37	chr5	176082007	176082007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccttctcctgctgcGtcagggaccctgcggtgagt	3	10	15	13	2	2	1	1	1	1	0	3	2	2	2	3	3	4	1	3	3	0	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr5:176082007G>A	ENST00000503045.1	+	5	554	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	TSPAN17_ENST00000405525.2_Missense_Mutation_p.V190I|TSPAN17_ENST00000515708.1_Missense_Mutation_p.V190I|TSPAN17_ENST00000310032.8_Missense_Mutation_p.V190I|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000508164.1_Missense_Mutation_p.V190I			Q96FV3	TSN17_HUMAN	tetraspanin 17	190					establishment of protein localization to organelle (GO:0072594)|protein ubiquitination (GO:0016567)	integral component of membrane (GO:0016021)|ubiquitin ligase complex (GO:0000151)	enzyme binding (GO:0019899)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCTGCTGCGTCAGGGACCC	0.637																																																	0													21	22	22					5																	176082007		2202	4299	6501	SO:0001583	missense	0			AF174603	CCDS34298.1, CCDS47346.1, CCDS47346.2, CCDS54952.1	5q35.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000048140	ENSG00000048140		"Tetraspanins"	13594	protein-coding gene	gene with protein product			"F-box only protein 23, transmembrane 4 superfamily member 17"	FBXO23, TM4SF17		10531035, 10531037	Standard	NM_012171		Approved	FBX23	uc003met.3	Q96FV3	OTTHUMG00000163230	ENST00000503045.1:c.499G>A	5.37:g.176082007G>A	ENSP00000425212:p.Val167Ile		Q6NXF7|Q96S98|Q9UKB9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V190I	ENST00000503045.1	37	c.568		5	.	.	.	.	.	.	.	.	.	.	G	7.972	0.749198	0.15710	.	.	ENSG00000048140	ENST00000310032;ENST00000405525;ENST00000508164;ENST00000504168;ENST00000503045;ENST00000515708	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19;-2.19	5.23	3.39	0.38822	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	T	0.68732	0.3033	N	0.10664	0.02	0.37021	D	0.896196	B;B;B;B	0.19200	0.005;0.032;0.034;0.032	B;B;B;B	0.16722	0.004;0.016;0.009;0.016	T	0.61158	-0.7119	10	0.02654	T	1	-19.2806	9.2228	0.37386	0.0849:0.1445:0.7706:0.0	.	190;190;190;190	Q96FV3-3;C9J7R4;Q96FV3-4;Q96FV3	.;.;.;TSN17_HUMAN	I	190;190;190;178;167;190	ENSP00000309036:V190I;ENSP00000385665:V190I;ENSP00000422053:V190I;ENSP00000423957:V178I;ENSP00000425212:V167I;ENSP00000426650:V190I	ENSP00000309036:V190I	V	+	1	0	TSPAN17	176014613	0.885000	0.30320	0.273000	0.24645	0.946000	0.59487	2.014000	0.40951	0.542000	0.28846	-0.467000	0.05162	GTC	TSPAN17	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000048140		0.637	TSPAN17-008	NOVEL	basic|exp_conf	protein_coding	TSPAN17	HGNC	protein_coding	OTTHUMT00000372215.1		0	82	0	G			176082007	1			no_errors	ENST00000310032	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.993	A	A	176082007	G	A	176082007	3	1	62	1	0	0	0	0	1	0	0	0	16689	1145	40	1	586	1	TSPAN17	5	176082007	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	21688544	176082007	4833253	54	17522											
EEF1E1	9521	genome.wustl.edu	37	chr6	8090462	8090462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatagtatatctgctaatGtaaagttataccctgtaagg	15	13	7	6	0	1	0	0	0	1	0	1	0	1	0	1	1	2	5	1	1	10	8			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr6:8090462G>T	ENST00000379715.5	-	3	397	c.341C>A	c.(340-342)aCa>aAa	p.T114K	EEF1E1_ENST00000429723.2_Missense_Mutation_p.T114K|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.T114K|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T114K	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	114	C-terminal.|GST C-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ATCTGCTAATGTAAAGTTATA	0.259																																																	0													64	64	64					6																	8090462		2199	4295	6494	SO:0001583	missense	0			AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.341C>A	6.37:g.8090462G>T	ENSP00000369038:p.Thr114Lys		C9JLK5|Q5THS2	Missense_Mutation	SNP	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	p.T114K	ENST00000379715.5	37	c.341	CCDS4507.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.348614|4.348614	0.82132|0.82132	.|.	.|.	ENSG00000124802|ENSG00000124802	ENST00000502429|ENST00000429723;ENST00000379715;ENST00000507463	.|T	.|0.56776	.|0.44	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75852|0.75852	0.3906|0.3906	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.68192	.|0.945;0.956	D|D	0.83678|0.83678	0.0170|0.0170	5|9	.|.	.|.	.|.	-16.1144|-16.1144	17.902|17.902	0.88907|0.88907	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|114;114	.|C9JLK5;O43324	.|.;MCA3_HUMAN	N|K	101|114	.|ENSP00000369038:T114K	.|.	H|T	-|-	1|2	0|0	EEF1E1|EEF1E1	8035461|8035461	1.000000|1.000000	0.71417|0.71417	0.827000|0.827000	0.32855|0.32855	0.832000|0.832000	0.47134|0.47134	8.532000|8.532000	0.90613|0.90613	2.202000|2.202000	0.70862|0.70862	0.462000|0.462000	0.41574|0.41574	CAT|ACA	EEF1E1	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000124802		0.259	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1E1	HGNC	protein_coding	OTTHUMT00000039799.2	-	0	61	0	G	NM_004280		8090462	-1	tier1	-	no_errors	ENST00000379715	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	8090462	G	T	8090462	3	4	62	1	0	0	0	0	1	0	0	0	4941	1377	48	3	231	3	EEF1E1	6	8090462	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		8090462	163024605	55	17523											
SRPK1	6732	genome.wustl.edu	37	chr6	35837647	35837647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtatcacgttccataagCgtttgatcctggccaatggt	8	14	9	10	2	2	1	1	1	1	0	4	1	4	1	3	2	1	3	3	2	3	4	rs373060394		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr6:35837647C>T	ENST00000373825.2	-	11	1308	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	SRPK1_ENST00000373822.1_Silent_p.T234T|SRPK1_ENST00000423325.2_Silent_p.T325T					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GTTCCATAAGCGTTTGATCCT	0.358																																					NSCLC(31;67 978 16289 24856 26454)												0								C		1,3801		0,1,1900	178	168	171		1023	0.8	0.9	6		171	1,8223		0,1,4111	no	coding-synonymous	SRPK1	NM_003137.4		0,2,6011	TT,TC,CC		0.0122,0.0263,0.0166		341/656	35837647	2,12024	1901	4112	6013	SO:0001819	synonymous_variant	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1023G>A	6.37:g.35837647C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T341	ENST00000373825.2	37	c.1023	CCDS47415.1	6																																																																																			SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000096063		0.358	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3	-	0	30	0	C	NM_003137		35837647	-1	tier1	-	no_errors	ENST00000373825	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.030	T	T	35837647	C	T	35837647	2	4	62	1	0	0	0	0	0	0	0	1	15206	755	27	1		1	SRPK1	6	35837647	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	27747185	35837647	135277420	56	17524											
KIF6	221458	genome.wustl.edu	37	chr6	39602636	39602636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactcacggcaaatcttcCaaactggaggcttcatgtct	10	11	8	12	1	4	0	2	0	2	0	5	1	5	1	1	3	2	3	1	3	3	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr6:39602636C>A	ENST00000287152.7	-	5	592	c.498G>T	c.(496-498)ttG>ttT	p.L166F	KIF6_ENST00000538893.1_Missense_Mutation_p.L166F|KIF6_ENST00000373215.3_Missense_Mutation_p.L166F|KIF6_ENST00000373216.3_Missense_Mutation_p.L166F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	166	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCAAATCTTCCAAACTGGAGG	0.363																																																	0													125	123	124					6																	39602636		2203	4300	6503	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.498G>T	6.37:g.39602636C>A	ENSP00000287152:p.Leu166Phe		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L166F	ENST00000287152.7	37	c.498	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.86|15.86	2.957491|2.957491	0.53400|0.53400	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T|.	0.75154|.	-0.91;-0.91;-0.91;-0.91|.	5.28|5.28	3.46|3.46	0.39613|0.39613	Kinesin, motor domain (4);|.	.|.	.|.	.|.	.|.	T|T	0.64897|0.64897	0.2640|0.2640	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.97;1.0|.	D;P;D|.	0.85130|.	0.995;0.708;0.997|.	T|T	0.68116|0.68116	-0.5494|-0.5494	9|5	0.56958|.	D|.	0.05|.	.|.	7.93|7.93	0.29897|0.29897	0.0:0.708:0.0:0.292|0.0:0.708:0.0:0.292	.|.	166;166;166|.	E7EUN7;F6VGH2;Q6ZMV9|.	.;.;KIF6_HUMAN|.	F|L	166|58	ENSP00000287152:L166F;ENSP00000362312:L166F;ENSP00000362311:L166F;ENSP00000441435:L166F|.	ENSP00000287152:L166F|.	L|W	-|-	3|2	2|0	KIF6|KIF6	39710614|39710614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.651000|1.651000	0.37302|0.37302	1.196000|1.196000	0.43129|0.43129	0.557000|0.557000	0.71058|0.71058	TTG|TGG	KIF6	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000164627		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0	56	0	C	NM_145027		39602636	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	A	A	39602636	C	A	39602636	3	1	62	1	0	0	0	0	1	0	0	0	8335	593	21	3	2022	3	KIF6	6	39602636	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	3764989	39602636	131512431	57	17525											
GOPC	57120	genome.wustl.edu	37	chr6	117894703	117894703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatcacagttttgtgaCgatgcaaatgtatttcagct	10	14	9	8	2	2	1	2	1	0	0	3	3	2	2	0	1	2	4	0	1	2	4	rs373946370		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr6:117894703C>T	ENST00000368498.2	-	5	818	c.743G>A	c.(742-744)cGt>cAt	p.R248H	GOPC_ENST00000535237.1_Missense_Mutation_p.R248H|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.R240H	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	248					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		AGTTTTGTGACGATGCAAATG	0.453			O	ROS1	glioblastoma																																			Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	294	237	257		719,743	5.2	1	6		257	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GOPC	NM_001017408.2,NM_020399.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	240/455,248/463	117894703	1,13005	2203	4300	6503	SO:0001583	missense	0			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.743G>A	6.37:g.117894703C>T	ENSP00000357484:p.Arg248His		A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R248H	ENST00000368498.2	37	c.743	CCDS5117.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.463424	0.96257	0.0	1.16E-4	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.26067	1.78;1.8;1.76	6.06	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.34453	-0.9828	10	0.59425	D	0.04	-23.5309	16.8247	0.85927	0.1291:0.8709:0.0:0.0	.	240;248;248	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	H	240;248;248	ENSP00000052569:R240H;ENSP00000357484:R248H;ENSP00000445690:R248H	ENSP00000052569:R240H	R	-	2	0	GOPC	118001396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.067000	0.71193	2.882000	0.98803	0.655000	0.94253	CGT	GOPC	-	NULL	ENSG00000047932		0.453	GOPC-002	KNOWN	basic|CCDS	protein_coding	GOPC	HGNC	protein_coding	OTTHUMT00000041988.1	-	0	136	0	C	NM_020399		117894703	-1	tier1	-	no_errors	ENST00000368498	ensembl	human	known	74_37	missense	15.22	117	21	SNP	1.000	T	T	117894703	C	T	117894703	3	4	62	1	0	0	0	0	1	0	0	0	6599	536	19	1	665	1	GOPC	6	117894703	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	78292067	117894703	53220364	58	17526											
MMD2	221938	genome.wustl.edu	37	chr7	4965092	4965092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaactcacagcatgggtgGcacagttggccgcatgttca	9	8	12	12	1	2	0	2	0	0	0	2	0	2	0	2	3	2	5	2	3	1	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr7:4965092G>T	ENST00000404774.3	-	2	313	c.119C>A	c.(118-120)gCc>gAc	p.A40D	MMD2_ENST00000406755.1_Missense_Mutation_p.A40D|MMD2_ENST00000401401.3_Missense_Mutation_p.A40D	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	40						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		AGCATGGGTGGCACAGTTGGC	0.587																																																	0													130	129	129					7																	4965092		1934	4130	6064	SO:0001583	missense	0			BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.119C>A	7.37:g.4965092G>T	ENSP00000384690:p.Ala40Asp		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	pfam_HlyIII-related	p.A40D	ENST00000404774.3	37	c.119	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	g	20.5	4.001848	0.74932	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.31247	1.5;1.5;1.5	3.82	3.82	0.43975	.	0.000000	0.64402	D	0.000002	T	0.50599	0.1625	M	0.73598	2.24	0.54753	D	0.99998	D;D;P	0.57571	0.963;0.98;0.812	P;D;P	0.65573	0.906;0.936;0.642	T	0.54146	-0.8337	10	0.66056	D	0.02	-27.3641	10.3259	0.43793	0.0:0.0:0.8035:0.1965	.	40;40;40	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	D	40	ENSP00000384690:A40D;ENSP00000385963:A40D;ENSP00000384141:A40D	ENSP00000384141:A40D	A	-	2	0	MMD2	4931618	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.842000	0.75379	1.965000	0.57142	0.561000	0.74099	GCC	MMD2	-	pfam_HlyIII-related	ENSG00000136297		0.587	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	HGNC	protein_coding	OTTHUMT00000324136.1	-	0	35	0	G	NM_198403		4965092	-1	tier1	-	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	4965092	G	T	4965092	3	4	62	1	0	0	0	0	1	0	0	0	9682	1203	42	3	717	3	MMD2	7	4965092	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		4965092	154173571	59	17527											
HECW1	23072	genome.wustl.edu	37	chr7	43351452	43351452	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgcaaggagccgctcCgatacagctacaaccccgac	10	4	11	16	4	0	0	0	0	0	0	1	3	1	1	5	2	6	3	5	2	4	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr7:43351452C>T	ENST00000395891.2	+	4	723	c.118C>T	c.(118-120)Cga>Tga	p.R40*	HECW1_ENST00000453890.1_Nonsense_Mutation_p.R40*	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGAGCCGCTCCGATACAGCTA	0.617																																																	0													51	60	57					7																	43351452		1996	4148	6144	SO:0001587	stop_gained	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.118C>T	7.37:g.43351452C>T	ENSP00000379228:p.Arg40*		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R40*	ENST00000395891.2	37	c.118	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838602	0.91117	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.103	0.65070	0.3056:0.6944:0.0:0.0	.	.	.	.	X	40;40;39	.	ENSP00000265522:R39X	R	+	1	2	HECW1	43317977	0.992000	0.36948	0.995000	0.50966	0.246000	0.25737	2.924000	0.48876	2.813000	0.96785	0.655000	0.94253	CGA	HECW1	-	NULL	ENSG00000002746		0.617	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	-	0	48	0	C	NM_015052		43351452	1	tier1	-	no_errors	ENST00000395891	ensembl	human	known	74_37	nonsense	22.73	34	10	SNP	0.987	T	T	43351452	C	T	43351452	4	4	62	1	0	0	0	0	0	1	0	0	7069	644	23	1	124	1	HECW1	7	43351452	Nonsense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	38386360	43351452	115787211	60	17528											
SEMA3E	9723	genome.wustl.edu	37	chr7	83031961	83031961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttacagaaccaggccttGgataagggacttttccttca	12	11	8	10	0	1	1	1	0	0	1	2	3	2	3	3	3	3	0	3	3	4	6			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr7:83031961G>T	ENST00000307792.3	-	10	1597	c.1130C>A	c.(1129-1131)cCa>cAa	p.P377Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P317Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	377	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.P377Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACCAGGCCTTGGATAAGGGAC	0.363																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											95	85	88					7																	83031961		2203	4300	6503	SO:0001583	missense	0			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1130C>A	7.37:g.83031961G>T	ENSP00000303212:p.Pro377Gln		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.P377Q	ENST00000307792.3	37	c.1130	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606049	0.87157	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.19806	2.12;2.12	5.41	5.41	0.78517	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76113	-0.3078	10	0.87932	D	0	.	19.1853	0.93641	0.0:0.0:1.0:0.0	.	377	O15041	SEM3E_HUMAN	Q	377;317;377	ENSP00000303212:P377Q;ENSP00000405052:P317Q	ENSP00000303212:P377Q	P	-	2	0	SEMA3E	82869897	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.835000	0.99442	2.536000	0.85505	0.585000	0.79938	CCA	SEMA3E	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000170381		0.363	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	-	0	76	0	G	NM_012431		83031961	-1	tier1	-	no_errors	ENST00000307792	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	83031961	G	T	83031961	3	4	62	1	0	0	0	0	1	0	0	0	14073	1348	47	3	1229	3	SEMA3E	7	83031961	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	39680509	83031961	76106702	61	17529											
TFPI2	7980	genome.wustl.edu	37	chr7	93519535	93519535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccccgtacaggaactggCggcagctctgcgtgtacctg	7	7	13	14	3	1	0	0	0	1	0	1	1	1	1	3	3	6	4	3	3	3	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr7:93519535C>A	ENST00000222543.5	-	2	497	c.185G>T	c.(184-186)cGc>cTc	p.R62L	AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Missense_Mutation_p.R62L	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	62	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAGGAACTGGCGGCAGCTCTG	0.582																																																	0													36	39	38					7																	93519535		2203	4300	6503	SO:0001583	missense	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.185G>T	7.37:g.93519535C>A	ENSP00000222543:p.Arg62Leu		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.R62L	ENST00000222543.5	37	c.185	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924317	0.52653	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.57752	0.38;0.38	5.07	-8.49	0.00931	Proteinase inhibitor I2, Kunitz metazoa (6);	1.160040	0.06013	N	0.649780	T	0.30634	0.0771	N	0.20766	0.605	0.22142	N	0.99933	B;B;B;B	0.24576	0.033;0.002;0.106;0.002	B;B;B;B	0.26416	0.069;0.009;0.028;0.009	T	0.24119	-1.0169	10	0.34782	T	0.22	.	6.6248	0.22823	0.457:0.1112:0.0:0.4318	.	33;51;62;62	A4ZVU7;Q8NAK6;F5H3J8;P48307	.;.;.;TFPI2_HUMAN	L	62	ENSP00000222543:R62L;ENSP00000438861:R62L	ENSP00000222543:R62L	R	-	2	0	TFPI2	93357471	0.001000	0.12720	0.000000	0.03702	0.318000	0.28184	-0.410000	0.07151	-1.669000	0.01470	0.313000	0.20887	CGC	TFPI2	-	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000105825		0.582	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	-	0	58	0	C	NM_006528		93519535	-1	tier1	-	no_errors	ENST00000222543	ensembl	human	known	74_37	missense	22.73	68	20	SNP	0.000	A	A	93519535	C	A	93519535	3	1	62	1	0	0	0	0	1	0	0	0	15856	768	27	2	538	2	TFPI2	7	93519535	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	10487574	93519535	65619128	62	17530											
CADPS2	93664	genome.wustl.edu	37	chr7	122194686	122194686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctggctattttttggaaCtaccattcggtgtaattcag	9	16	8	8	1	1	0	1	0	0	0	3	1	2	1	2	3	2	2	2	3	4	8			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr7:122194686C>T	ENST00000449022.2	-	8	1412	c.1393G>A	c.(1393-1395)Gtt>Att	p.V465I	CADPS2_ENST00000313070.7_Missense_Mutation_p.V465I|CADPS2_ENST00000412584.2_Missense_Mutation_p.V465I|CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000334010.7_Missense_Mutation_p.V465I	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	465					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTTTTTGGAACTACCATTCGG	0.378																																																	0													128	113	117					7																	122194686		1822	4069	5891	SO:0001583	missense	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"Pleckstrin homology (PH) domain containing"	16018	protein-coding gene	gene with protein product		609978	"Ca++-dependent activator protein for secretion 2"				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1393G>A	7.37:g.122194686C>T	ENSP00000398481:p.Val465Ile		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V465I	ENST00000449022.2	37	c.1393	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.76|17.76	3.469376|3.469376	0.63625|0.63625	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.71579	.|-0.58;-0.58;-0.58;-0.58	5.55|5.55	5.55|5.55	0.83447|0.83447	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.077111	.|0.53938	.|D	.|0.000051	T|T	0.73583|0.73583	0.3605|0.3605	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.23540	.|0.033;0.087;0.015	.|B;B;B	.|0.23150	.|0.044;0.018;0.028	T|T	0.71659|0.71659	-0.4526|-0.4526	5|10	.|0.56958	.|D	.|0.05	-18.1944|-18.1944	19.5003|19.5003	0.95091|0.95091	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|465;465;465	.|Q86UW7-2;Q86UW7;Q86UW7-3	.|.;CAPS2_HUMAN;.	N|I	113|465;465;465;432;465;465	.|ENSP00000325581:V465I;ENSP00000333940:V465I;ENSP00000400401:V465I;ENSP00000398481:V465I	.|ENSP00000325581:V465I	S|V	-|-	2|1	0|0	CADPS2|CADPS2	121981922|121981922	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.976000|0.976000	0.68499|0.68499	4.731000|4.731000	0.62022|0.62022	2.594000|2.594000	0.87642|0.87642	0.585000|0.585000	0.79938|0.79938	AGT|GTT	CADPS2	-	superfamily_C2_dom	ENSG00000081803		0.378	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	-	0	74	0	C	NM_017954		122194686	-1	tier1	-	no_errors	ENST00000449022	ensembl	human	known	74_37	missense	14.61	76	13	SNP	0.997	T	T	122194686	C	T	122194686	3	4	62	1	0	0	0	0	1	0	0	0	2578	565	20	3	2633	3	CADPS2	7	122194686	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	28675151	122194686	36943977	63	17531											
ENTPD4	9583	genome.wustl.edu	37	chr8	23306283	23306283	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttgtctctggttagtcGcccatacttatttcggatta	6	19	7	9	2	2	0	0	0	2	0	5	1	2	1	1	2	1	1	1	2	4	7	rs372620648		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr8:23306283G>T	ENST00000358689.4	-	3	413	c.178C>A	c.(178-180)Cga>Aga	p.R60R	ENTPD4_ENST00000417069.2_Silent_p.R60R|ENTPD4_ENST00000356206.6_Silent_p.R60R	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	60					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CTGGTTAGTCGCCCATACTTA	0.378																																																	0													81	85	84					8																	23306283		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"lysosomal apyrase-like 1"	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.178C>A	8.37:g.23306283G>T			D3DSS3|O15092	Silent	SNP	pfam_GDA1_CD39_NTPase	p.R60	ENST00000358689.4	37	c.178	CCDS6041.1	8																																																																																			ENTPD4	-	NULL	ENSG00000197217		0.378	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	HGNC	protein_coding	OTTHUMT00000215142.1		0	47	0	G	NM_004901		23306283	-1			no_errors	ENST00000358689	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.045	T	T	23306283	G	T	23306283	2	4	62	1	0	0	0	0	0	0	0	1	5157	1095	38	2		2	ENTPD4	8	23306283	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		23306283	123057739	64	17532											
TMEM70	54968	genome.wustl.edu	37	chr8	74891072	74891072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaaggctaatttatactGgcaatatggcccgagcagtg	12	10	12	7	1	0	0	0	0	0	0	0	2	0	1	1	4	2	3	1	4	6	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr8:74891072G>T	ENST00000312184.5	+	2	365	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C	Y_RNA_ENST00000365350.1_RNA|TMEM70_ENST00000517439.1_Missense_Mutation_p.G98C	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	98					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			AATTTATACTGGCAATATGGC	0.358																																																	0													152	165	161					8																	74891072		2203	4300	6503	SO:0001583	missense	0			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.292G>T	8.37:g.74891072G>T	ENSP00000312599:p.Gly98Cys		E9PDY9|Q9NWY5	Missense_Mutation	SNP	pfam_DUF1301_TMEM70	p.G98C	ENST00000312184.5	37	c.292	CCDS6215.1	8	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346732	0.82022	.	.	ENSG00000175606	ENST00000517439;ENST00000312184	T;T	0.72942	-0.7;-0.44	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	T	0.78259	0.4255	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.989	T	0.80979	-0.1140	10	0.87932	D	0	-11.8337	18.2223	0.89905	0.0:0.0:1.0:0.0	.	98;98	E9PDY9;Q9BUB7	.;TMM70_HUMAN	C	98	ENSP00000429467:G98C;ENSP00000312599:G98C	ENSP00000312599:G98C	G	+	1	0	TMEM70	75053626	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	8.325000	0.90007	2.603000	0.88011	0.651000	0.88453	GGC	TMEM70	-	NULL	ENSG00000175606		0.358	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1		0	71	0	G	NM_017866		74891072	1			no_errors	ENST00000312184	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	74891072	G	T	74891072	3	4	62	1	0	0	0	0	1	0	0	0	16246	1348	47	3	298	3	TMEM70	8	74891072	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	51584789	74891072	71472950	65	17533											
HEATR7A	727957	genome.wustl.edu	37	chr8	145245830	145245830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggctgcagagtcgaGaagccaaggtatgccccgtg	10	7	14	10	2	1	2	1	0	0	2	2	3	1	2	3	2	3	3	3	2	3	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr8:145245830G>T	ENST00000528919.1	+	7	827	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	MROH1_ENST00000398656.4_Nonsense_Mutation_p.E236*|MROH1_ENST00000423230.2_Nonsense_Mutation_p.E236*|MROH1_ENST00000326134.5_Nonsense_Mutation_p.E236*|MROH1_ENST00000534366.1_Nonsense_Mutation_p.E236*	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	236																	GCAGAGTCGAGAAGCCAAGGT	0.612																																																	0													39	43	42					8																	145245830		2067	4211	6278	SO:0001587	stop_gained	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"maestro heat-like repeat containing"	26958	protein-coding gene	gene with protein product			"HEAT repeat containing 7A"	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.706G>T	8.37:g.145245830G>T	ENSP00000435565:p.Glu236*		C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E236*	ENST00000528919.1	37	c.706	CCDS47938.1	8	.	.	.	.	.	.	.	.	.	.	G	38	7.029605	0.98013	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	.	.	.	5.95	5.95	0.96441	.	0.076368	0.49916	U	0.000131	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.8792	0.88835	0.0:0.0:1.0:0.0	.	.	.	.	X	236;236;236;236;236;168	.	ENSP00000321737:E236X	E	+	1	0	HEATR7A	145317818	1.000000	0.71417	0.463000	0.27130	0.896000	0.52359	9.432000	0.97498	2.825000	0.97269	0.655000	0.94253	GAA	MROH1	-	superfamily_ARM-type_fold	ENSG00000179832		0.612	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MROH1	HGNC	protein_coding	OTTHUMT00000386183.1		0	24	0	G	NM_032450		145245830	1			no_errors	ENST00000326134	ensembl	human	known	74_37	nonsense	16.00	21	4	SNP	1.000	T	T	145245830	G	T	145245830	4	4	62	1	0	0	0	0	0	1	0	0	7061	943	33	3	728	3	HEATR7A	8	145245830	Nonsense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	70354758	145245830	1118192	66	17534											
CNTLN	54875	genome.wustl.edu	37	chr9	17330768	17330768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaacaagggtttctccCgaaagagcatcatgacaagt	13	8	9	11	1	2	2	1	1	1	1	3	3	2	2	2	1	3	2	2	1	4	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:17330768C>T	ENST00000380647.3	+	9	1564	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	CNTLN_ENST00000262360.5_Nonsense_Mutation_p.R494*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.R494*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	494					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.R494R(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GGGTTTCTCCCGAAAGAGCAT	0.383																																																	1	Substitution - coding silent(1)	lung(1)											117	110	112					9																	17330768		1861	4092	5953	SO:0001587	stop_gained	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1480C>T	9.37:g.17330768C>T	ENSP00000370021:p.Arg494*		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.R494*	ENST00000380647.3	37	c.1480	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448101	0.84101	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	.	.	.	5.0	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.4358	0.27154	0.2075:0.1252:0.6673:0.0	.	.	.	.	X	494	.	ENSP00000262360:R494X	R	+	1	2	CNTLN	17320768	0.819000	0.29175	0.342000	0.25602	0.015000	0.08874	1.507000	0.35758	0.617000	0.30160	-0.139000	0.14373	CGA	CNTLN	-	NULL	ENSG00000044459		0.383	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0	39	0	C	NM_017738		17330768	1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	nonsense	23.68	29	9	SNP	0.043	T	T	17330768	C	T	17330768	4	4	62	1	0	0	0	0	0	1	0	0	3646	644	23	1	1544	1	CNTLN	9	17330768	Nonsense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09		17330768	123882663	67	17535											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974695	21974695	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggatcggcctccgaccGtaactattcggtgcgttggg	6	10	13	12	5	0	0	0	0	0	0	3	2	1	1	4	4	2	2	4	4	2	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:21974695G>T	ENST00000304494.5	-	1	402	c.132C>A	c.(130-132)taC>taA	p.Y44*	CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Y44*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Y44*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Y44*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.Y44*(3)|p.0(1)|p.V28_V51del(1)|p.G45del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTCCGACCGTAACTATTCG	0.682		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1346	Whole gene deletion(1316)|Unknown(25)|Substitution - Nonsense(3)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(163)|lung(151)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(51)|upper_aerodigestive_tract(48)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CI056876|CI075603|CM980323	CDKN2A	I|M							56	66	63					9																	21974695		2203	4300	6503	SO:0001587	stop_gained	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.132C>A	9.37:g.21974695G>T	ENSP00000307101:p.Tyr44*		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.Y44*	ENST00000304494.5	37	c.132	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584668	0.65992	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	-2.57	0.06248	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5958	0.08005	0.2792:0.0:0.3159:0.4049	.	.	.	.	X	44	.	ENSP00000307101:Y44X	Y	-	3	2	CDKN2A	21964695	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	-0.597000	0.05713	-0.621000	0.05633	-0.182000	0.12963	TAC	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.682	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	30	0	G	NM_000077		21974695	-1	tier1	-	no_errors	ENST00000446177	ensembl	human	known	74_37	nonsense	33.33	8	4	SNP	0.020	T	T	21974695	G	T	21974695	4	4	62	1	0	0	0	0	0	1	0	0	3168	1140	40	2	551	2	CDKN2A	9	21974695	Nonsense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	4643927	21974695	119238736	68	17536											
PRSS3	5646	genome.wustl.edu	37	chr9	33798037	33798037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctccagctgctggcacTgagtgcctcatctccggctg	5	9	10	17	1	2	1	1	1	1	0	4	1	3	1	5	2	3	4	5	2	0	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:33798037T>C	ENST00000361005.5	+	3	582	c.582T>C	c.(580-582)acT>acC	p.T194T	PRSS3_ENST00000429677.3_Silent_p.T130T|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Silent_p.T151T|PRSS3_ENST00000379405.3_Silent_p.T137T	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	194	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTGCTGGCACTGAGTGCCTCA	0.562																																																	0													161	127	138					9																	33798037		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.582T>C	9.37:g.33798037T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T194	ENST00000361005.5	37	c.582	CCDS47958.1	9																																																																																			PRSS3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000010438		0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1		0	102	0	T	NM_002771		33798037	1			no_errors	ENST00000361005	ensembl	human	known	74_37	silent	5.62	84	5	SNP	0.688	C	C	33798037	T	C	33798037	2	2	62	1	0	0	0	0	0	0	0	1	12664	1567	55	4		4	PRSS3	9	33798037	Silent	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	11823342	33798037	107415394	69	17537											
FAM75A6	389730	genome.wustl.edu	37	chr9	43628000	43628000	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatcagtgtggagtcccgCaggggaggagcagtgaagcc	9	7	17	8	1	1	1	1	1	0	0	2	4	2	4	2	4	2	3	2	4	2	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:43628000C>A	ENST00000332857.6	-	4	715	c.687G>T	c.(685-687)ctG>ctT	p.L229L	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	229					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGAGTCCCGCAGGGGAGGAG	0.587																																																	0													1	1	1					9																	43628000		22	44	66	SO:0001819	synonymous_variant	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.687G>T	9.37:g.43628000C>A				Silent	SNP	NULL	p.L229	ENST00000332857.6	37	c.687	CCDS47973.1	9																																																																																			SPATA31A6	-	NULL	ENSG00000185775		0.587	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0	34	0	C	NM_001145196		43628000	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	silent	32.26	21	10	SNP	0.000	A	A	43628000	C	A	43628000	2	1	62	1	0	0	0	0	0	0	0	1	5644	697	25	3		3	FAM75A6	9	43628000	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	9829963	43628000	97585431	70	17538											
C9orf102	375748	genome.wustl.edu	37	chr9	98638319	98638319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcccctccccctggccGgatggatccgtcggcgccac	3	6	12	20	5	0	0	0	0	0	0	4	2	2	2	7	5	0	0	7	5	0	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:98638319G>T	ENST00000288985.7	+	1	337	c.32G>T	c.(31-33)cGg>cTg	p.R11L	LINC00476_ENST00000429781.1_RNA	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	11					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CCCCCTGGCCGGATGGATCCG	0.701																																																	0													9	11	10					9																	98638319		2160	4249	6409	SO:0001583	missense	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.32G>T	9.37:g.98638319G>T	ENSP00000288985:p.Arg11Leu		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R11L	ENST00000288985.7	37	c.32	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960350	0.34565	.	.	ENSG00000182150	ENST00000288985	D	0.89810	-2.57	3.63	-7.26	0.01466	.	.	.	.	.	T	0.75715	0.3887	N	0.22421	0.69	0.46131	D	0.998887	B	0.06786	0.001	B	0.08055	0.003	T	0.32903	-0.9889	9	0.30078	T	0.28	6.6101	8.2321	0.31603	0.1853:0.4694:0.3453:0.0	.	11	Q5T890	RAD26_HUMAN	L	11	ENSP00000288985:R11L	ENSP00000288985:R11L	R	+	2	0	C9orf102	97678140	0.574000	0.26684	0.023000	0.16930	0.030000	0.12068	-0.286000	0.08399	-2.228000	0.00721	-1.031000	0.02408	CGG	ERCC6L2	-	NULL	ENSG00000182150		0.701	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	-	0	35	0	G	NM_001010895		98638319	1	tier1	-	no_errors	ENST00000288985	ensembl	human	novel	74_37	missense	33.33	34	17	SNP	0.026	T	T	98638319	G	T	98638319	3	4	62	1	0	0	0	0	1	0	0	0	2452	1116	39	2	34	2	C9orf102	9	98638319	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	55010319	98638319	42575112	71	17539											
SMC2	10592	genome.wustl.edu	37	chr9	106857810	106857810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggactccatctgctttttgCtgggcatctccaacctgtct	5	15	8	13	0	3	0	0	0	3	0	5	1	4	1	3	2	3	3	3	2	1	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:106857810C>T	ENST00000286398.7	+	2	433	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	SMC2_ENST00000374793.3_Silent_p.L49L|SMC2_ENST00000374787.3_Silent_p.L49L|SMC2_ENST00000303219.8_Silent_p.L49L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	49					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						CTGCTTTTTGCTGGGCATCTC	0.433																																																	0													127	105	113					9																	106857810		2203	4300	6503	SO:0001819	synonymous_variant	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.145C>T	9.37:g.106857810C>T			Q6IEE0|Q9P1P2	Silent	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.L49	ENST00000286398.7	37	c.145	CCDS35086.1	9																																																																																			SMC2	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000136824		0.433	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	-	0	59	0	C			106857810	1	tier1	-	no_errors	ENST00000286398	ensembl	human	known	74_37	silent	13.70	63	10	SNP	1.000	T	T	106857810	C	T	106857810	2	4	62	1	0	0	0	0	0	0	0	1	14828	796	28	3		3	SMC2	9	106857810	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	8219491	106857810	34355621	72	17540											
CRB2	286204	genome.wustl.edu	37	chr9	126118544	126118544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagagcgggctgccatggCgctggccaggcctgggaccc	5	4	17	15	3	0	1	0	0	0	1	0	2	0	2	4	5	2	3	4	5	0	0	rs201425854	byFrequency	TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:126118544C>T	ENST00000373631.3	+	1	6	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CRB2_ENST00000359999.3_Missense_Mutation_p.A2V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	2					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGCCATGGCGCTGGCCAGG	0.711													C|||	2	0.000399361	0	0	5008	,	,		8172	0		0.002	False		,,,				2504	0																0								C	VAL/ALA	1,3509		0,1,1754	4	5	4		5	3.2	1	9		4	10,6758		0,10,3374	no	missense	CRB2	NM_173689.5	64	0,11,5128	TT,TC,CC		0.1478,0.0285,0.107	benign	2/1286	126118544	11,10267	1755	3384	5139	SO:0001583	missense	0			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.5C>T	9.37:g.126118544C>T	ENSP00000362734:p.Ala2Val		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.A2V	ENST00000373631.3	37	c.5	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969239	0.74246	2.85E-4	0.001478	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.86432	-2.12;-1.96	3.23	3.23	0.37069	.	0.919640	0.08827	U	0.887925	D	0.82370	0.5022	N	0.14661	0.345	0.80722	D	1	D;D	0.63880	0.968;0.993	B;P	0.54270	0.27;0.747	T	0.75900	-0.3154	10	0.31617	T	0.26	.	6.9641	0.24613	0.0:0.8631:0.0:0.1369	.	2;2	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	V	2	ENSP00000353092:A2V;ENSP00000362734:A2V	ENSP00000353092:A2V	A	+	2	0	CRB2	125158365	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.712000	0.37940	1.755000	0.51935	0.471000	0.43371	GCG	CRB2	-	NULL	ENSG00000148204		0.711	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	-	0	61	0	C	NM_173689		126118544	1	tier1	rs201425854	no_errors	ENST00000373631	ensembl	human	known	74_37	missense	37.50	55	33	SNP	1.000	T	T	126118544	C	T	126118544	3	4	62	1	0	0	0	0	1	0	0	0	3856	768	27	1	7	1	CRB2	9	126118544	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	19260734	126118544	15094887	73	17541											
ENTPD2	954	genome.wustl.edu	37	chr9	139946015	139946016	+	Frame_Shift_Del	DEL	TC	TC	-																															tagaggggtgtgcccgcgtgTctctctttgggcacatcctg																										TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr9:139946015_139946016delTC	ENST00000355097.2	-	3	379_380	c.332_333delGA	c.(331-333)agafs	p.R111fs	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Frame_Shift_Del_p.R111fs	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	111					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCCCGCGTGTCTCTCTTTGGG	0.619																																																	0																																										SO:0001589	frameshift_variant	0			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.332_333delGA	9.37:g.139946019_139946020delTC	ENSP00000347213:p.Arg111fs		O15464|Q5SPY6|Q5SPY7	Frame_Shift_Del	DEL	pfam_GDA1_CD39_NTPase	p.R111fs	ENST00000355097.2	37	c.333_332	CCDS7026.1	9																																																																																			ENTPD2	-	pfam_GDA1_CD39_NTPase	ENSG00000054179		0.619	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1		0	29	0	TC	NM_203468		139946016	-1	tier1		no_errors	ENST00000355097	ensembl	human	known	74_37	frame_shift_del	36.00	16	9	DEL	0.990:0.993	-	-	139946016	TC	-	139946015	7	5	62	1	0	1	0	1	0	0	0	0	5155	1664	58	0	1182	0	ENTPD2	9	139946015	Frame_Shift_Del	DEL	TC	TCGA-L5-A4OO-01A-11D-A27G-09	13827471	139946015	1267416	74	17542											
C10orf57	80195	genome.wustl.edu	37	chr10	81841955	81841955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtatgccatagtattGtgcaagtaagtctttgaagt	10	16	9	6	0	1	1	0	1	1	0	2	1	2	1	2	0	2	4	2	0	6	7			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr10:81841955G>T	ENST00000372281.3	+	3	276	c.246G>T	c.(244-246)ttG>ttT	p.L82F	TMEM254_ENST00000372275.1_Missense_Mutation_p.L82F|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372277.3_Missense_Mutation_p.L82F|TMEM254_ENST00000372274.1_Missense_Mutation_p.L82F	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	82						integral component of membrane (GO:0016021)											CCATAGTATTGTGCAAGTAAG	0.373																																																	0													229	203	212					10																	81841955		2203	4300	6503	SO:0001583	missense	0			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 57"	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.246G>T	10.37:g.81841955G>T	ENSP00000361355:p.Leu82Phe		D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Missense_Mutation	SNP	NULL	p.L82F	ENST00000372281.3	37	c.246	CCDS7363.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.00|17.00|17.00	3.276308|3.276308|3.276308	0.59649|0.59649|0.59649	.|.|.	.|.|.	ENSG00000133678|ENSG00000133678|ENSG00000133678	ENST00000372273|ENST00000372281;ENST00000372277;ENST00000372275;ENST00000372274|ENST00000450179	.|.|.	.|.|.	.|.|.	5.39|5.39|5.39	0.187|0.187|0.187	0.15109|0.15109|0.15109	.|.|.	.|0.063724|.	.|0.64402|.	.|D|.	.|0.000012|.	T|T|T	0.71434|0.71434|0.71434	0.3339|0.3339|0.3339	M|M|M	0.84326|0.84326|0.84326	2.69|2.69|2.69	0.38066|0.38066|0.38066	D|D|D	0.936211|0.936211|0.936211	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.91635|.	.|0.999;0.999|.	T|T|T	0.72080|0.72080|0.72080	-0.4398|-0.4398|-0.4398	5|8|5	.|.|.	.|.|.	.|.|.	-19.6005|-19.6005|-19.6005	9.157|9.157|9.157	0.36998|0.36998|0.36998	0.3914:0.0:0.6086:0.0|0.3914:0.0:0.6086:0.0|0.3914:0.0:0.6086:0.0	.|.|.	.|106;82|.	.|E7ERB9;Q8TBM7|.	.|.;CJ057_HUMAN|.	F|F|L	103|82|60	.|.|.	.|.|.	C|L|V	+|+|+	2|3|1	0|2|0	C10orf57|C10orf57|C10orf57	81831935|81831935|81831935	0.981000|0.981000|0.981000	0.34729|0.34729|0.34729	0.987000|0.987000|0.987000	0.45799|0.45799|0.45799	0.982000|0.982000|0.982000	0.71751|0.71751|0.71751	0.005000|0.005000|0.005000	0.13129|0.13129|0.13129	0.071000|0.071000|0.071000	0.16664|0.16664|0.16664	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	TGT|TTG|GTG	TMEM254	-	NULL	ENSG00000133678		0.373	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1	-	0	129	0	G	NM_025125		81841955	1	tier1	-	no_errors	ENST00000372281	ensembl	human	known	74_37	missense	6.45	87	6	SNP	0.968	T	T	81841955	G	T	81841955	3	4	62	1	0	0	0	0	1	0	0	0	1614	1368	48	3	256	3	C10orf57	10	81841955	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		81841955	53692792	75	17543											
MKI67	4288	genome.wustl.edu	37	chr10	129908757	129908757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacatgtgcttgtcaactgCggttgctccttcactggggt	5	14	12	10	1	2	1	2	1	0	0	3	1	3	1	1	3	4	3	1	3	1	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr10:129908757C>T	ENST00000368654.3	-	12	2676	c.2301G>A	c.(2299-2301)ccG>ccA	p.P767P	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Silent_p.P407P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	767					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTCAACTGCGGTTGCTCCT	0.403																																																	0													145	146	146					10																	129908757		2203	4300	6503	SO:0001819	synonymous_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2301G>A	10.37:g.129908757C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P767	ENST00000368654.3	37	c.2301	CCDS7659.1	10																																																																																			MKI67	-	NULL	ENSG00000148773		0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0	36	0	C	NM_002417		129908757	-1			no_errors	ENST00000368654	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.000	T	T	129908757	C	T	129908757	2	4	62	1	0	0	0	0	0	0	0	1	9636	755	27	1		1	MKI67	10	129908757	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	48066802	129908757	5625990	76	17544											
EHF	26298	genome.wustl.edu	37	chr11	34680266	34680266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctatgaaaagctcagccGagctatgaggtgaggagttt	12	9	13	7	1	1	3	1	3	0	0	1	6	1	4	2	2	3	3	2	2	4	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr11:34680266G>A	ENST00000533754.1	+	8	1011	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	EHF_ENST00000531794.1_Missense_Mutation_p.R287Q|EHF_ENST00000450654.2_Missense_Mutation_p.R242Q|EHF_ENST00000530286.1_Missense_Mutation_p.R265Q|EHF_ENST00000257831.3_Missense_Mutation_p.R265Q					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			AAGCTCAGCCGAGCTATGAGG	0.458																																																	0													76	81	79					11																	34680266		2202	4298	6500	SO:0001583	missense	0			AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"epithelium-specific ets factor 3", "ESE3 transcription factor"	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.794G>A	11.37:g.34680266G>A	ENSP00000435837:p.Arg265Gln			Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R265Q	ENST00000533754.1	37	c.794	CCDS7894.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.350110	0.95830	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.7	5.7	0.88788	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.975;0.998	T	0.76759	-0.2841	10	0.87932	D	0	.	19.8388	0.96673	0.0:0.0:1.0:0.0	.	287;242;265	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	Q	265;242;265;265;287	ENSP00000257831:R265Q;ENSP00000399733:R242Q;ENSP00000433508:R265Q;ENSP00000435837:R265Q;ENSP00000435835:R287Q	ENSP00000257831:R265Q	R	+	2	0	EHF	34636842	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.869000	0.99810	2.695000	0.91970	0.561000	0.74099	CGA	EHF	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000135373		0.458	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EHF	HGNC	protein_coding	OTTHUMT00000389855.1		0	45	0	G	NM_012153		34680266	1			no_errors	ENST00000257831	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	34680266	G	A	34680266	3	1	62	1	0	0	0	0	1	0	0	0	4995	1058	37	1	820	1	EHF	11	34680266	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		34680266	100326250	77	17545											
OR4C12	283093	genome.wustl.edu	37	chr11	50003895	50003895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctcagagcctggctggtgGtaatggtaaccacaatgagc	11	8	13	9	0	1	2	1	1	0	1	1	2	1	2	2	4	4	4	2	4	3	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr11:50003895G>T	ENST00000335238.4	-	1	176	c.143C>A	c.(142-144)aCc>aAc	p.T48N		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTGGCTGGTGGTAATGGTAAC	0.428																																																	0													67	68	68					11																	50003895		2201	4296	6497	SO:0001583	missense	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.143C>A	11.37:g.50003895G>T	ENSP00000334418:p.Thr48Asn		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.T48N	ENST00000335238.4	37	c.143	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	6.728	0.503051	0.12822	.	.	ENSG00000221954	ENST00000335238	T	0.01084	5.36	3.31	-2.4	0.06583	GPCR, rhodopsin-like superfamily (1);	1.196060	0.06544	U	0.743782	T	0.01387	0.0045	L	0.55481	1.735	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.47341	-0.9125	10	0.25751	T	0.34	.	4.5449	0.12076	0.2567:0.3266:0.4167:0.0	.	48	Q96R67	OR4CC_HUMAN	N	48	ENSP00000334418:T48N	ENSP00000334418:T48N	T	-	2	0	OR4C12	49960471	0.000000	0.05858	0.000000	0.03702	0.793000	0.44817	-1.967000	0.01508	-0.590000	0.05866	0.398000	0.26397	ACC	OR4C12	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221954		0.428	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	-	0	87	0	G	NM_001005270		50003895	-1	tier1	-	no_errors	ENST00000335238	ensembl	human	known	74_37	missense	32.56	58	28	SNP	0.000	T	T	50003895	G	T	50003895	3	4	62	1	0	0	0	0	1	0	0	0	11085	1261	44	3	790	3	OR4C12	11	50003895	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	15323629	50003895	85002621	78	17546											
SYVN1	84447	genome.wustl.edu	37	chr11	64900951	64900951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaactcactgccatgctgGggctggacttggtcaggtac	7	10	13	11	0	2	1	2	1	0	0	2	2	2	2	1	5	4	3	1	5	2	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr11:64900951G>T	ENST00000377190.3	-	2	216	c.122C>A	c.(121-123)cCc>cAc	p.P41H	SYVN1_ENST00000526121.1_5'Flank|SYVN1_ENST00000294256.8_Missense_Mutation_p.P41H|SYVN1_ENST00000307289.6_Missense_Mutation_p.P41H|SYVN1_ENST00000526060.1_Missense_Mutation_p.P41H	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	41					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGCCATGCTGGGGCTGGACTT	0.632																																																	0													76	73	74					11																	64900951		2201	4297	6498	SO:0001583	missense	0			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"RING-type (C3HC4) zinc fingers"	20738	protein-coding gene	gene with protein product	"HMG-coA reductase degradation 1 homolog (S. cerevisiae)"	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.122C>A	11.37:g.64900951G>T	ENSP00000366395:p.Pro41His		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P41H	ENST00000377190.3	37	c.122	CCDS31605.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201576	0.79015	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060;ENST00000528487	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	L	0.58669	1.825	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.74348	0.965;0.983;0.962	T	0.49634	-0.8919	10	0.15499	T	0.54	-21.6323	14.4757	0.67544	0.0:0.0:1.0:0.0	.	41;41;41	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	H	41	ENSP00000366395:P41H;ENSP00000294256:P41H;ENSP00000302035:P41H;ENSP00000436984:P41H;ENSP00000431720:P41H	ENSP00000294256:P41H	P	-	2	0	SYVN1	64657527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.002000	0.76304	2.338000	0.79540	0.655000	0.94253	CCC	SYVN1	-	NULL	ENSG00000162298		0.632	SYVN1-001	KNOWN	basic|CCDS	protein_coding	SYVN1	HGNC	protein_coding	OTTHUMT00000385274.1		0	92	0	G	NM_032431		64900951	-1			no_errors	ENST00000377190	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	64900951	G	T	64900951	3	4	62	1	0	0	0	0	1	0	0	0	15534	1232	43	3	1791	3	SYVN1	11	64900951	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	14897056	64900951	70105565	79	17547											
FOLR3	2352	genome.wustl.edu	37	chr11	71847017	71847017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggacatggcctggcagAtgatgcagctgctgcttctg	8	10	14	9	0	1	3	0	1	1	2	1	4	1	4	1	3	4	5	1	3	0	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr11:71847017A>G	ENST00000445078.2	+	2	84	c.13A>G	c.(13-15)Atg>Gtg	p.M5V	FOLR3_ENST00000456237.1_Missense_Mutation_p.M7V|FOLR3_ENST00000442948.2_Missense_Mutation_p.M7V			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	5					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGCCTGGCAGATGATGCAGCT	0.597																																																	0													100	109	106					11																	71847017		2193	4287	6480	SO:0001583	missense	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.13A>G	11.37:g.71847017A>G	ENSP00000390338:p.Met5Val		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.M7V	ENST00000445078.2	37	c.19		11	.	.	.	.	.	.	.	.	.	.	A	10.90	1.481161	0.26598	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948;ENST00000546166	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	3.5	-6.56	0.01848	.	1.762590	0.04570	U	0.393060	T	0.29882	0.0747	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.08764	-1.0706	9	0.20046	T	0.44	.	1.4729	0.02420	0.2844:0.2805:0.3041:0.131	.	7;5	E9PGT2;P41439	.;FOLR3_HUMAN	V	5;7;7;5	ENSP00000390338:M5V;ENSP00000399235:M7V;ENSP00000411161:M7V;ENSP00000446279:M5V	ENSP00000325032:M5V	M	+	1	0	FOLR3	71524665	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.296000	0.08287	-0.845000	0.04179	0.402000	0.26972	ATG	FOLR3	-	NULL	ENSG00000110203		0.597	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	-	0	69	0	A	NM_000804		71847017	1	tier1	-	no_errors	ENST00000456237	ensembl	human	known	74_37	missense	6.58	71	5	SNP	0.000	G	G	71847017	A	G	71847017	3	3	62	1	0	0	0	0	1	0	0	0	6005	333	12	4	21	4	FOLR3	11	71847017	Missense_Mutation	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	6946066	71847017	63159499	80	17548											
ODZ4	26011	genome.wustl.edu	37	chr11	78567195	78567195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagaatctatgaaactGtcctctggaaagaaactact	14	11	6	10	0	3	3	0	1	3	2	5	4	4	4	2	1	3	0	2	1	6	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr11:78567195G>C	ENST00000278550.7	-	11	1746	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	428					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CTATGAAACTGTCCTCTGGAA	0.478																																																	0													70	63	65					11																	78567195		692	1591	2283	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1284C>G	11.37:g.78567195G>C	ENSP00000278550:p.Asp428Glu		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.D428E	ENST00000278550.7	37	c.1284	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591680	0.46214	.	.	ENSG00000149256	ENST00000278550	T	0.21361	2.01	5.04	4.09	0.47781	.	0.053257	0.64402	D	0.000001	T	0.17323	0.0416	L	0.43152	1.355	0.42205	D	0.99178	B	0.06786	0.001	B	0.08055	0.003	T	0.03829	-1.1000	9	.	.	.	.	11.7283	0.51722	0.0:0.1389:0.733:0.1281	.	428	Q6N022	TEN4_HUMAN	E	428	ENSP00000278550:D428E	.	D	-	3	2	ODZ4	78244843	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.769000	0.68865	2.619000	0.88677	0.561000	0.74099	GAC	TENM4	-	NULL	ENSG00000149256		0.478	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	15	0	G			78567195	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	C	C	78567195	G	C	78567195	3	2	62	1	0	0	0	0	1	0	0	0	10876	1368	48	5	7121	5	ODZ4	11	78567195	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	6720178	78567195	56439321	81	17549											
MLL	4297	genome.wustl.edu	37	chr11	118374955	118374955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaaatgagccaaagaTggataactgccattctgtaa	17	8	7	9	0	1	2	0	1	1	1	1	3	1	3	3	1	3	1	3	1	5	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr11:118374955T>C	ENST00000389506.5	+	27	8339	c.8339T>C	c.(8338-8340)aTg>aCg	p.M2780T	KMT2A_ENST00000354520.4_Missense_Mutation_p.M2742T|KMT2A_ENST00000534358.1_Missense_Mutation_p.M2783T			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2780					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAGCCAAAGATGGATAACTGC	0.438																																																	0													94	93	93					11																	118374955		2200	4296	6496	SO:0001583	missense	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8339T>C	11.37:g.118374955T>C	ENSP00000374157:p.Met2780Thr		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.M2780T	ENST00000389506.5	37	c.8339	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	T	4.767	0.142656	0.09083	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.81163	-1.46;-1.46;-1.42	6.17	5.05	0.67936	.	0.359374	0.36268	N	0.002691	T	0.69522	0.3120	N	0.22421	0.69	0.29356	N	0.865013	B;B	0.17038	0.02;0.02	B;B	0.14023	0.01;0.01	T	0.64761	-0.6331	10	0.54805	T	0.06	.	12.3147	0.54948	0.0:0.0655:0.0:0.9345	.	2783;2780	E9PQG7;Q03164	.;MLL1_HUMAN	T	2783;2780;2742;1690	ENSP00000436786:M2783T;ENSP00000374157:M2780T;ENSP00000346516:M2742T	ENSP00000346516:M2742T	M	+	2	0	MLL	117880165	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.227000	0.58612	1.155000	0.42497	0.533000	0.62120	ATG	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	47	0	T	NM_005933		118374955	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	missense	43.75	27	21	SNP	1.000	C	C	118374955	T	C	118374955	3	2	62	1	0	0	0	0	1	0	0	0	9658	1464	51	4	8445	4	MLL	11	118374955	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	39807760	118374955	16631561	82	17550											
PRMT8	56341	genome.wustl.edu	37	chr12	3600835	3600835	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctgctcctgaggaggaAaatggcggagaacgcggccg	9	5	16	11	4	0	2	0	1	0	1	1	5	1	4	3	5	3	1	3	5	3	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:3600835A>T	ENST00000382622.3	+	1	434	c.44A>T	c.(43-45)aAa>aTa	p.K15I	PRMT8_ENST00000452611.2_Intron	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	15					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTGAGGAGGAAAATGGCGGAG	0.662																																																	0													49	47	48					12																	3600835		2202	4300	6502	SO:0001583	missense	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.44A>T	12.37:g.3600835A>T	ENSP00000372067:p.Lys15Ile		B2RDP0|Q8TBJ8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.K15I	ENST00000382622.3	37	c.44	CCDS8521.2	12	.	.	.	.	.	.	.	.	.	.	A	19.30	3.800977	0.70567	.	.	ENSG00000111218	ENST00000382622	T	0.32988	1.43	3.54	3.54	0.40534	.	0.258488	0.28301	N	0.015851	T	0.21468	0.0517	L	0.36672	1.1	0.45366	D	0.998358	P	0.35011	0.48	B	0.31101	0.124	T	0.08027	-1.0742	10	0.72032	D	0.01	.	8.6442	0.33996	1.0:0.0:0.0:0.0	.	15	Q9NR22	ANM8_HUMAN	I	15	ENSP00000372067:K15I	ENSP00000372067:K15I	K	+	2	0	PRMT8	3471096	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.476000	0.73587	1.610000	0.50200	0.459000	0.35465	AAA	PRMT8	-	NULL	ENSG00000111218		0.662	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	-	0	17	0	A	NM_019854		3600835	1	tier1	-	no_errors	ENST00000382622	ensembl	human	known	74_37	missense	16.00	20	4	SNP	1.000	T	T	3600835	A	T	3600835	3	4	62	1	0	0	0	0	1	0	0	0	12584	14	1	5	46	5	PRMT8	12	3600835	Missense_Mutation	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09		3600835	130251060	83	17551											
KCNA6	3742	genome.wustl.edu	37	chr12	4919422	4919422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcggagaccctggccGgcgagtccgcttcttcgacc	4	8	13	16	5	1	1	0	0	1	1	4	4	2	1	4	3	1	3	4	3	0	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:4919422G>A	ENST00000280684.3	+	1	1081	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.R72Q			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	72					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GACCCTGGCCGGCGAGTCCGC	0.622										HNSCC(72;0.22)																																							0													45	47	47					12																	4919422		2203	4300	6503	SO:0001583	missense	0			X17622	CCDS8534.1	12p13	2014-06-12						"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6225	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 96"	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.215G>A	12.37:g.4919422G>A	ENSP00000280684:p.Arg72Gln			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R72Q	ENST00000280684.3	37	c.215	CCDS8534.1	12	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842701	0.71488	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.75938	-0.98;-0.98	4.57	3.68	0.42216	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.517604	0.20049	N	0.100352	T	0.72162	0.3426	M	0.84433	2.695	0.42298	D	0.992165	P	0.43788	0.817	B	0.36845	0.234	T	0.74931	-0.3496	10	0.62326	D	0.03	.	7.7934	0.29133	0.2611:0.0:0.7389:0.0	.	72	P17658	KCNA6_HUMAN	Q	72	ENSP00000408321:R72Q;ENSP00000280684:R72Q	ENSP00000280684:R72Q	R	+	2	0	KCNA6	4789683	0.002000	0.14202	0.993000	0.49108	0.938000	0.57974	1.405000	0.34635	1.146000	0.42352	0.462000	0.41574	CGG	KCNA6	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1	ENSG00000151079		0.622	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0	119	0	G	NM_002235		4919422	1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	missense	26.92	94	35	SNP	0.983	A	A	4919422	G	A	4919422	3	1	62	1	0	0	0	0	1	0	0	0	8034	1116	39	1	217	1	KCNA6	12	4919422	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	1318587	4919422	128932473	84	17552											
SLC2A14	144195	genome.wustl.edu	37	chr12	7981378	7981378	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaacatggaagggctgcacTttgcaggatagctggaagga	12	7	15	7	0	0	0	0	0	0	0	0	4	0	4	0	5	4	5	0	5	4	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:7981378T>A	ENST00000543909.1	-	11	1426	c.667A>T	c.(667-669)Agt>Tgt	p.S223C	SLC2A14_ENST00000431042.2_Missense_Mutation_p.S200C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.S200C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.S114C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.S238C|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000542546.1_Missense_Mutation_p.S114C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.S223C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	223					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGGCTGCACTTTGCAGGATA	0.453																																																	0													151	137	142					12																	7981378		2203	4300	6503	SO:0001583	missense	0			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"Solute carriers"	18301	protein-coding gene	gene with protein product		611039	"solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.667A>T	12.37:g.7981378T>A	ENSP00000440480:p.Ser223Cys		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.S223C	ENST00000543909.1	37	c.667	CCDS8585.1	12	.	.	.	.	.	.	.	.	.	.	T	4.555	0.103027	0.08731	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42	3.92	-0.657	0.11432	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.337948	0.38663	N	0.001616	T	0.52581	0.1743	N	0.04508	-0.205	0.20703	N	0.999867	B;B;B;B	0.14012	0.009;0.001;0.002;0.002	B;B;B;B	0.17979	0.02;0.008;0.005;0.008	T	0.38351	-0.9665	10	0.30078	T	0.28	.	3.8883	0.09108	0.572:0.1282:0.0:0.2998	.	238;114;200;223	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	C	200;223;200;223;114;114;238	ENSP00000340450:S200C;ENSP00000440480:S223C;ENSP00000407287:S200C;ENSP00000379834:S223C;ENSP00000440492:S114C;ENSP00000443903:S114C;ENSP00000445929:S238C	ENSP00000340450:S200C	S	-	1	0	SLC2A14	7872645	0.741000	0.28217	0.009000	0.14445	0.022000	0.10575	1.887000	0.39698	-0.004000	0.14419	0.377000	0.23210	AGT	SLC2A14	-	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000173262		0.453	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	SLC2A14	HGNC	protein_coding	OTTHUMT00000399836.2	-	0	70	0	T	NM_153449		7981378	-1	tier1	-	no_errors	ENST00000396589	ensembl	human	known	74_37	missense	27.27	48	18	SNP	0.325	A	A	7981378	T	A	7981378	3	1	62	1	0	0	0	0	1	0	0	0	14588	1609	56	5	919	5	SLC2A14	12	7981378	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	3061956	7981378	125870517	85	17553											
WBP11	51729	genome.wustl.edu	37	chr12	14940118	14940118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaagaggcacagcagaatCatcctctgactttctttggg	10	10	11	10	0	3	3	1	1	2	2	4	3	4	3	1	3	1	3	1	3	2	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:14940118C>T	ENST00000261167.2	-	12	2040	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	603					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ACAGCAGAATCATCCTCTGAC	0.478																																																	0													107	110	109					12																	14940118		2203	4298	6501	SO:0001583	missense	0			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"splicing factor, PQBP1 and PP1 interacting", "protein phosphatase 1, regulatory subunit 165"					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1807G>A	12.37:g.14940118C>T	ENSP00000261167:p.Asp603Asn		Q96AY8	Missense_Mutation	SNP	pfam_WW_dom-bd_prot_11	p.D603N	ENST00000261167.2	37	c.1807	CCDS8666.1	12	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445592	0.84101	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	5.06	5.06	0.68205	.	0.253956	0.37437	N	0.002092	T	0.61949	0.2388	L	0.45581	1.43	0.41007	D	0.984974	D	0.59357	0.985	P	0.55508	0.777	T	0.55354	-0.8154	9	0.14252	T	0.57	-12.6577	16.0442	0.80707	0.0:1.0:0.0:0.0	.	603	Q9Y2W2	WBP11_HUMAN	N	603;569	.	ENSP00000261167:D603N	D	-	1	0	WBP11	14831385	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.180000	0.65048	2.666000	0.90696	0.650000	0.86243	GAT	WBP11	-	NULL	ENSG00000084463		0.478	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP11	HGNC	protein_coding	OTTHUMT00000400850.1		0	59	0	C	NM_016312		14940118	-1			no_errors	ENST00000261167	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	14940118	C	T	14940118	3	4	62	1	0	0	0	0	1	0	0	0	17307	826	29	3	122	3	WBP11	12	14940118	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	6958740	14940118	118911777	86	17554											
PFKM	5213	genome.wustl.edu	37	chr12	48516582	48516582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgaagagcaccatgcaGccaaaaccctggggattggc	12	5	11	13	0	0	2	0	1	0	1	0	3	0	3	4	3	4	2	4	3	3	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:48516582G>A	ENST00000312352.7	+	2	64	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	PFKM_ENST00000359794.5_Missense_Mutation_p.A9T|PFKM_ENST00000340802.6_Missense_Mutation_p.A80T|PFKM_ENST00000551804.1_Missense_Mutation_p.A9T|PFKM_ENST00000395233.2_Missense_Mutation_p.A9T|PFKM_ENST00000551548.1_3'UTR|PFKM_ENST00000547587.1_Missense_Mutation_p.A9T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	9	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GCACCATGCAGCCAAAACCCT	0.488																																																	0													106	110	109					12																	48516582		2203	4300	6503	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.25G>A	12.37:g.48516582G>A	ENSP00000309438:p.Ala9Thr		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.A9T	ENST00000312352.7	37	c.25	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499885	0.26861	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000550924;ENST00000549941;ENST00000550257;ENST00000340802;ENST00000546755;ENST00000549366;ENST00000552792;ENST00000548288;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;D;T;D;D;D;T;T;T;T;T;T;T;T;T	0.86865	-0.48;-1.07;-1.08;-1.1;-2.18;-1.42;-2.13;-2.17;-2.18;-1.42;-1.06;-1.42;-1.07;-1.42;-0.48;-1.42;-1.42;-1.41	5.3	5.3	0.74995	.	0.054376	0.64402	D	0.000001	T	0.79986	0.4541	L	0.39898	1.24	0.43342	D	0.995395	B;B;B	0.33883	0.43;0.304;0.027	B;B;B	0.29267	0.1;0.046;0.008	T	0.75619	-0.3255	10	0.14252	T	0.57	-21.7718	14.6753	0.68975	0.0:0.0:1.0:0.0	.	9;9;80	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	T	9;9;9;42;83;80;112;112;80;80;9;9;9;9;9;9;9;9;9	ENSP00000450369:A9T;ENSP00000449835:A9T;ENSP00000446945:A9T;ENSP00000446829:A42T;ENSP00000447997:A83T;ENSP00000345771:A80T;ENSP00000449622:A112T;ENSP00000448940:A80T;ENSP00000448018:A80T;ENSP00000352842:A9T;ENSP00000448253:A9T;ENSP00000378656:A9T;ENSP00000449269:A9T;ENSP00000448177:A9T;ENSP00000446805:A9T;ENSP00000449426:A9T;ENSP00000309438:A9T;ENSP00000446519:A9T	ENSP00000309438:A9T	A	+	1	0	PFKM	46802849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.417000	0.59822	2.932000	0.99384	0.643000	0.83706	GCC	PFKM	-	pirsf_6-phosphofructokinase_euk	ENSG00000152556		0.488	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	-	0	42	0	G	NM_000289		48516582	1	tier1	-	no_errors	ENST00000312352	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	A	A	48516582	G	A	48516582	3	1	62	1	0	0	0	0	1	0	0	0	11804	971	34	3	248	3	PFKM	12	48516582	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	33576464	48516582	85335313	87	17555											
DHH	50846	genome.wustl.edu	37	chr12	49485080	49485080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcctgagcgtggtggccGtcctcgtcccagccctcagt	5	9	12	15	3	1	1	1	1	0	0	5	2	4	1	5	2	2	0	5	2	1	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:49485080G>A	ENST00000266991.2	-	2	702	c.396C>T	c.(394-396)gaC>gaT	p.D132D	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	132					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CGTGGTGGCCGTCCTCGTCCC	0.622																																																	0													161	119	133					12																	49485080		2203	4300	6503	SO:0001819	synonymous_variant	0			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"desert hedgehog (Drosophila) homolog"			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.396C>T	12.37:g.49485080G>A			Q15794	Silent	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.D132	ENST00000266991.2	37	c.396	CCDS8779.1	12																																																																																			DHH	-	pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog	ENSG00000139549		0.622	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	HGNC	protein_coding	OTTHUMT00000408973.1	-	0	91	0	G	NM_021044		49485080	-1	tier1	-	no_errors	ENST00000266991	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.995	A	A	49485080	G	A	49485080	2	1	62	1	0	0	0	0	0	0	0	1	4497	1136	40	1		1	DHH	12	49485080	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	968498	49485080	84366815	88	17556											
FMNL3	91010	genome.wustl.edu	37	chr12	50050234	50050234	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatttcgtgacctcctcGcaccaaacacacagctgcca	11	8	7	15	2	0	2	0	2	0	0	3	3	1	2	4	0	3	2	4	0	1	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:50050234G>T	ENST00000293590.5	-	9	1071	c.838C>A	c.(838-840)Cga>Aga	p.R280R	FMNL3_ENST00000335154.5_Silent_p.R280R|FMNL3_ENST00000550488.1_Silent_p.R280R|FMNL3_ENST00000352151.5_Silent_p.R229R			Q8IVF7	FMNL3_HUMAN	formin-like 3	280	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TGACCTCCTCGCACCAAACAC	0.507																																																	0													76	77	77					12																	50050234		2043	4228	6271	SO:0001819	synonymous_variant	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.838C>A	12.37:g.50050234G>T			B0JZA7|Q6ZRJ1	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.R280	ENST00000293590.5	37	c.838		12																																																																																			FMNL3	-	superfamily_ARM-type_fold	ENSG00000161791		0.507	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		-	0	85	0	G	NM_175736		50050234	-1	tier1	-	no_errors	ENST00000293590	ensembl	human	known	74_37	silent	6.94	67	5	SNP	1.000	T	T	50050234	G	T	50050234	2	4	62	1	0	0	0	0	0	0	0	1	5975	1095	38	2		2	FMNL3	12	50050234	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	565154	50050234	83801661	89	17557											
EPYC	1833	genome.wustl.edu	37	chr12	91396276	91396276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagttgatggactctaGagttggggcagtcacagcag	10	10	14	7	0	3	2	2	1	1	1	3	3	3	3	0	3	1	4	0	3	2	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:91396276G>T	ENST00000261172.3	-	2	159	c.67C>A	c.(67-69)Cta>Ata	p.L23I		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	23					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						ATGGACTCTAGAGTTGGGGCA	0.368																																																	0													107	105	106					12																	91396276		2203	4300	6503	SO:0001583	missense	0			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	3053	protein-coding gene	gene with protein product	"epiphycan proteoglycan"	601657	"dermatan sulphate proteoglycan 3", "dermatan sulfate proteoglycan 3"	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.67C>A	12.37:g.91396276G>T	ENSP00000261172:p.Leu23Ile		A8K3M7|Q8NEJ5	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L23I	ENST00000261172.3	37	c.67	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375826	0.24857	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.66995	0.43;-0.24	6.16	1.82	0.25136	.	0.735756	0.13394	N	0.391153	T	0.43033	0.1229	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22730	-1.0208	10	0.32370	T	0.25	.	5.6821	0.17782	0.1682:0.0:0.3591:0.4727	.	23	Q99645	EPYC_HUMAN	I	23	ENSP00000261172:L23I;ENSP00000448272:L23I	ENSP00000261172:L23I	L	-	1	2	EPYC	89920407	0.003000	0.15002	0.046000	0.18839	0.972000	0.66771	0.851000	0.27751	0.366000	0.24427	0.650000	0.86243	CTA	EPYC	-	NULL	ENSG00000083782		0.368	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	-	0	84	0	G	NM_004950		91396276	-1	tier1	-	no_errors	ENST00000261172	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.001	T	T	91396276	G	T	91396276	3	4	62	1	0	0	0	0	1	0	0	0	5217	933	33	3	925	3	EPYC	12	91396276	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	41346042	91396276	42455619	90	17558											
LUM	4060	genome.wustl.edu	37	chr12	91502498	91502498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagatcagttacattctCaaaggccttttcatcaatat	12	14	5	10	0	4	1	4	0	1	1	5	1	4	1	1	1	2	2	1	1	4	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:91502498C>G	ENST00000266718.4	-	2	713	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	87					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GTTACATTCTCAAAGGCCTTT	0.373																																																	0													99	100	100					12																	91502498		2203	4300	6503	SO:0001583	missense	0			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	6724	protein-coding gene	gene with protein product	"lumican proteoglycan"	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.259G>C	12.37:g.91502498C>G	ENSP00000266718:p.Glu87Gln		B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E87Q	ENST00000266718.4	37	c.259	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088456	0.76756	.	.	ENSG00000139329	ENST00000266718	T	0.57907	0.37	5.66	5.66	0.87406	.	0.149852	0.64402	D	0.000016	T	0.33440	0.0863	N	0.04063	-0.285	0.45995	D	0.998807	P	0.41188	0.741	B	0.42062	0.374	T	0.21759	-1.0236	10	0.32370	T	0.25	-14.612	13.3479	0.60584	0.0:0.9279:0.0:0.0721	.	87	P51884	LUM_HUMAN	Q	87	ENSP00000266718:E87Q	ENSP00000266718:E87Q	E	-	1	0	LUM	90026629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.742000	0.68646	2.831000	0.97527	0.650000	0.86243	GAG	LUM	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000139329		0.373	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2		0	52	0	C	NM_002345		91502498	-1			no_errors	ENST00000266718	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	G	G	91502498	C	G	91502498	3	3	62	1	0	0	0	0	1	0	0	0	9120	835	29	5	765	5	LUM	12	91502498	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	106222	91502498	42349397	91	17559											
MMAB	326625	genome.wustl.edu	37	chr12	109999611	109999611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcctcccgggccgaggagCatggtgtcgccagggccgag	6	4	18	13	4	0	0	0	0	0	0	2	4	1	1	5	4	2	1	5	4	0	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:109999611C>G	ENST00000545712.2	-	5	788	c.395G>C	c.(394-396)tGc>tCc	p.C132S	MMAB_ENST00000266839.5_Missense_Mutation_p.C41S|MMAB_ENST00000540016.1_Missense_Mutation_p.C80S	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	132					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGCCGAGGAGCATGGTGTCGC	0.582																																																	0													38	36	37					12																	109999611		2203	4300	6503	SO:0001583	missense	0			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"ATP:cob(I)alamin adenosyltransferase", "cilia and flagella associated protein 23"	607568	"methylmalonic aciduria (cobalamin deficiency) type B"			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.395G>C	12.37:g.109999611C>G	ENSP00000445920:p.Cys132Ser		C5HU05|Q9BSH0	Missense_Mutation	SNP	pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like	p.C132S	ENST00000545712.2	37	c.395	CCDS9131.1	12	.	.	.	.	.	.	.	.	.	.	C	9.445	1.088968	0.20390	.	.	ENSG00000139428	ENST00000545712;ENST00000266839;ENST00000542390	D;D	0.94613	-3.47;-3.47	5.56	2.47	0.30058	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.398802	0.27821	N	0.017709	T	0.74076	0.3669	N	0.00510	-1.415	0.09310	N	0.999994	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.68853	-0.5299	10	0.06757	T	0.87	-11.0729	4.3676	0.11232	0.2377:0.572:0.0:0.1903	.	41;132;132	B4DHP4;B2R6J3;Q96EY8	.;.;MMAB_HUMAN	S	132;41;132	ENSP00000445920:C132S;ENSP00000266839:C41S	ENSP00000266839:C41S	C	-	2	0	MMAB	108483994	0.783000	0.28701	0.926000	0.36857	0.573000	0.36030	0.591000	0.23969	1.341000	0.45600	0.655000	0.94253	TGC	MMAB	-	pfam_AdoCbl_synth_CblAdoTrfase-like,superfamily_AdoCbl_synth_CblAdoTrfase-like,tigrfam_AdoCbl_synth_CblAdoTrfase-like	ENSG00000139428		0.582	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMAB	HGNC	protein_coding	OTTHUMT00000403128.2		0	55	0	C			109999611	-1			no_errors	ENST00000545712	ensembl	human	known	74_37	missense	5.13	36	2	SNP	0.865	G	G	109999611	C	G	109999611	3	3	62	1	0	0	0	0	1	0	0	0	9678	710	25	5	377	5	MMAB	12	109999611	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	18497113	109999611	23852284	92	17560											
ATP2A2	488	genome.wustl.edu	37	chr12	110777494	110777494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagagaagaaatgcacCttgaggactctgccaacttt	14	9	10	8	0	1	4	0	2	1	3	1	7	1	5	2	1	3	1	2	1	4	2	rs147733067		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr12:110777494C>T	ENST00000539276.2	+	13	1838	c.1729C>T	c.(1729-1731)Ctt>Ttt	p.L577F	ATP2A2_ENST00000395494.2_Missense_Mutation_p.L550F|ATP2A2_ENST00000308664.6_Missense_Mutation_p.L577F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	577	Interacts with HAX1.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGAAATGCACCTTGAGGACTC	0.463																																																	0													48	53	51					12																	110777494		2203	4300	6503	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1729C>T	12.37:g.110777494C>T	ENSP00000440045:p.Leu577Phe		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.L577F	ENST00000539276.2	37	c.1729	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.47|19.47	3.834486|3.834486	0.71373|0.71373	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.96168|.	-3.93;-3.93;-3.93|.	5.78|5.78	4.9|4.9	0.64082|0.64082	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71651|0.71651	0.3365|0.3365	M|M	0.66439|0.66439	2.03|2.03	0.80722|0.80722	D|D	1|1	B;B;B|.	0.30973|.	0.302;0.045;0.049|.	B;B;B|.	0.31547|.	0.132;0.026;0.046|.	T|T	0.71540|0.71540	-0.4562|-0.4562	10|5	0.51188|.	T|.	0.08|.	.|.	14.8007|14.8007	0.69913|0.69913	0.0:0.9307:0.0:0.0693|0.0:0.9307:0.0:0.0693	.|.	550;577;577|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	F|L	577;550;577|467	ENSP00000311186:L577F;ENSP00000378872:L550F;ENSP00000440045:L577F|.	ENSP00000311186:L577F|.	L|P	+|+	1|2	0|0	ATP2A2|ATP2A2	109261877|109261877	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.968000|0.968000	0.65278|0.65278	4.070000|4.070000	0.57548|0.57548	1.457000|1.457000	0.47850|0.47850	0.563000|0.563000	0.77884|0.77884	CTT|CCT	ATP2A2	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000174437		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	-	0	71	0	C	NM_001681		110777494	1	tier1	-	no_errors	ENST00000539276	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	T	T	110777494	C	T	110777494	3	4	62	1	0	0	0	0	1	0	0	0	1138	681	24	3	1779	3	ATP2A2	12	110777494	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	777883	110777494	23074401	93	17561											
PARP4	143	genome.wustl.edu	37	chr13	25068765	25068765	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggtgtgaaatgttctctTagtagaaatccttgtttctt	9	18	8	6	0	3	2	1	1	2	1	5	2	4	2	1	1	0	3	1	1	4	6			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr13:25068765T>A	ENST00000381989.3	-	7	792	c.687A>T	c.(685-687)ctA>ctT	p.L229L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	229					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATGTTCTCTTAGTAGAAATC	0.313																																																	0													146	144	145					13																	25068765		2203	4300	6503	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.687A>T	13.37:g.25068765T>A			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L229	ENST00000381989.3	37	c.687	CCDS9307.1	13																																																																																			PARP4	-	NULL	ENSG00000102699		0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	-	0	106	0	T	NM_006437		25068765	-1	tier1	-	no_errors	ENST00000381989	ensembl	human	known	74_37	silent	8.41	98	9	SNP	0.220	A	A	25068765	T	A	25068765	2	1	62	1	0	0	0	0	0	0	0	1	11502	1741	61	5		5	PARP4	13	25068765	Silent	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09		25068765	90101113	94	17562											
SMAD9	4093	genome.wustl.edu	37	chr13	37439893	37439893	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgtaacaaactggtcgaaAgtctggaagaaaacaaacca	18	6	8	9	2	1	1	0	0	1	1	3	3	1	2	1	2	4	1	1	2	7	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr13:37439893A>C	ENST00000399275.2	-	4	923	c.784T>G	c.(784-786)Ttt>Gtt	p.F262V	SMAD9_ENST00000379826.4_Missense_Mutation_p.F262V|SMAD9_ENST00000350148.5_Missense_Mutation_p.F225V			O15198	SMAD9_HUMAN	SMAD family member 9	262					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ACTGGTCGAAAGTCTGGAAGA	0.493																																																	0													46	41	43					13																	37439893		2203	4300	6503	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.784T>G	13.37:g.37439893A>C	ENSP00000382216:p.Phe262Val		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.F262V	ENST00000399275.2	37	c.784	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	A	2.057	-0.416274	0.04766	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.96885	-3.24;-4.16;-3.24	5.23	4.03	0.46877	SMAD/FHA domain (1);	0.100359	0.64402	D	0.000001	D	0.83459	0.5259	N	0.00648	-1.295	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.78755	-0.2080	10	0.05620	T	0.96	.	11.8008	0.52126	0.8528:0.1472:0.0:0.0	.	225;262	O15198-2;O15198	.;SMAD9_HUMAN	V	262;225;262	ENSP00000382216:F262V;ENSP00000239885:F225V;ENSP00000369154:F262V	ENSP00000239885:F225V	F	-	1	0	SMAD9	36337893	1.000000	0.71417	0.996000	0.52242	0.610000	0.37248	2.071000	0.41500	0.922000	0.37019	0.533000	0.62120	TTT	SMAD9	-	superfamily_SMAD_FHA_domain	ENSG00000120693		0.493	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	-	0	57	0	A	NM_005905		37439893	-1	tier1	-	no_errors	ENST00000379826	ensembl	human	known	74_37	missense	25.68	55	19	SNP	1.000	C	C	37439893	A	C	37439893	3	2	62	1	0	0	0	0	1	0	0	0	14809	72	3	4	631	4	SMAD9	13	37439893	Missense_Mutation	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	12371128	37439893	77729985	95	17563											
DPF3	8110	genome.wustl.edu	37	chr14	73141063	73141063	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaatgactgttccatcCggtcctttctgggctgtggg	4	14	14	9	1	1	1	0	1	1	0	4	2	4	2	3	4	0	2	3	4	1	3	rs374644462		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr14:73141063C>T	ENST00000556509.1	-	8	755	c.756G>A	c.(754-756)ccG>ccA	p.P252P	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Silent_p.P262P|DPF3_ENST00000541685.1_Silent_p.P252P	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	252					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTGTTCCATCCGGTCCTTTCT	0.498																																																	0								C		0,3946		0,0,1973	58	63	62		756	-1.3	1	14		62	2,8310		0,2,4154	no	coding-synonymous	DPF3	NM_012074.3		0,2,6127	TT,TC,CC		0.0241,0.0,0.0163		252/358	73141063	2,12256	1973	4156	6129	SO:0001819	synonymous_variant	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.756G>A	14.37:g.73141063C>T			A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P307	ENST00000556509.1	37	c.921		14																																																																																			DPF3	-	NULL	ENSG00000205683		0.498	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0	63	0	C			73141063	-1	tier1	-	no_errors	ENST00000366353	ensembl	human	known	74_37	silent	17.28	67	14	SNP	0.906	T	T	73141063	C	T	73141063	2	4	62	1	0	0	0	0	0	0	0	1	4732	639	23	1		1	DPF3	14	73141063	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09		73141063	34208477	96	17564											
ESRRB	2103	genome.wustl.edu	37	chr14	76948947	76948947	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggttgttgcagtgaccaAgattgtctcatacctactgg	8	15	10	8	0	1	2	1	1	1	1	2	2	1	2	2	2	3	3	2	2	3	6			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr14:76948947A>C	ENST00000509242.1	+	6	730	c.632A>C	c.(631-633)aAg>aCg	p.K211T	ESRRB_ENST00000261532.7_Missense_Mutation_p.K211T|ESRRB_ENST00000380887.2_Missense_Mutation_p.K211T|ESRRB_ENST00000556177.1_Missense_Mutation_p.K211T	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	211					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCAGTGACCAAGATTGTCTCA	0.557																																																	0													79	73	75					14																	76948947		2203	4300	6503	SO:0001583	missense	0			X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"Nuclear hormone receptors"	3473	protein-coding gene	gene with protein product		602167	"deafness, autosomal recessive 35"	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.632A>C	14.37:g.76948947A>C	ENSP00000422488:p.Lys211Thr		A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.K211T	ENST00000509242.1	37	c.632	CCDS9850.2	14	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846024	0.91277	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.88775	2.98	0.80722	D	1	P;B	0.37688	0.605;0.418	P;B	0.44696	0.458;0.379	T	0.71424	-0.4597	10	0.87932	D	0	.	15.5185	0.75846	1.0:0.0:0.0:0.0	.	211;216	Q5F0P7;E7EWD9	.;.	T	216;211;211;211;211	ENSP00000424992:K216T;ENSP00000422488:K211T;ENSP00000451658:K211T;ENSP00000370270:K211T;ENSP00000261532:K211T	ENSP00000261532:K211T	K	+	2	0	ESRRB	76018700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.185000	0.77714	2.070000	0.61991	0.533000	0.62120	AAG	ESRRB	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000119715		0.557	ESRRB-003	KNOWN	basic|CCDS	protein_coding	ESRRB	HGNC	protein_coding	OTTHUMT00000360663.1		0	65	0	A			76948947	1			no_errors	ENST00000380887	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	C	C	76948947	A	C	76948947	3	2	62	1	0	0	0	0	1	0	0	0	5277	72	3	4	646	4	ESRRB	14	76948947	Missense_Mutation	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	3807884	76948947	30400593	97	17565											
TTC7B	145567	genome.wustl.edu	37	chr14	91077133	91077133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtaattgtattaagctgtCgtctgtcagcaatggttcta	11	15	9	6	1	3	0	1	0	2	0	4	0	3	0	0	1	2	5	0	1	6	6	rs558303116		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr14:91077133C>T	ENST00000328459.6	-	17	2040	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q	TTC7B_ENST00000357056.2_Missense_Mutation_p.R640Q|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	640										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ATTAAGCTGTCGTCTGTCAGC	0.493																																																	0													182	168	173					14																	91077133		2203	4300	6503	SO:0001583	missense	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"Tetratricopeptide (TTC) repeat domain containing"	19858	protein-coding gene	gene with protein product			"tetratricopeptide repeat domain 7 like 1"	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1919G>A	14.37:g.91077133C>T	ENSP00000336127:p.Arg640Gln		Q86U24|Q86VT3	Missense_Mutation	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R640Q	ENST00000328459.6	37	c.1919	CCDS32140.1	14	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330388	0.81690	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000555894;ENST00000540938	T;T;T	0.63744	1.89;1.07;-0.06	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.73442	0.3587	L	0.41961	1.31	0.80722	D	1	D;B	0.76494	0.999;0.086	D;B	0.72625	0.978;0.012	T	0.65853	-0.6067	10	0.23302	T	0.38	-5.3336	20.3343	0.98733	0.0:1.0:0.0:0.0	.	640;640	Q86TV6;Q86TV6-2	TTC7B_HUMAN;.	Q	538;640;640;110;49;382	ENSP00000349564:R640Q;ENSP00000336127:R640Q;ENSP00000451440:R110Q	ENSP00000336127:R640Q	R	-	2	0	TTC7B	90146886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.542000	0.82095	2.822000	0.97130	0.650000	0.86243	CGA	TTC7B	-	NULL	ENSG00000165914		0.493	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2	-	0	54	0	C			91077133	-1	tier1	-	no_errors	ENST00000357056	ensembl	human	known	74_37	missense	32.73	36	18	SNP	1.000	T	T	91077133	C	T	91077133	3	4	62	1	0	0	0	0	1	0	0	0	16762	884	31	1	628	1	TTC7B	14	91077133	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	14128186	91077133	16272407	98	17566											
C15orf2	23742	genome.wustl.edu	37	chr15	24921975	24921975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctcctcccagagctGcccgcaacaggccctgcaaa	8	5	10	18	2	0	1	0	0	0	1	2	1	2	1	4	1	5	5	4	1	2	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr15:24921975G>T	ENST00000329468.2	+	1	1435	c.961G>T	c.(961-963)Gcc>Tcc	p.A321S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	321	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TCCCAGAGCTGCCCGCAACAG	0.587																																																	0													47	47	47					15																	24921975		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.961G>T	15.37:g.24921975G>T	ENSP00000333735:p.Ala321Ser			Missense_Mutation	SNP	NULL	p.A321S	ENST00000329468.2	37	c.961	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455840	0.43634	.	.	ENSG00000185823	ENST00000329468	T	0.11385	2.78	1.93	-0.129	0.13502	.	1.076680	0.07393	N	0.889451	T	0.19485	0.0468	L	0.42245	1.32	0.09310	N	1	D	0.61697	0.99	D	0.70487	0.969	T	0.36817	-0.9732	10	0.13853	T	0.58	.	7.6597	0.28396	0.0:0.5241:0.4759:0.0	.	321	Q9NZP6	CO002_HUMAN	S	321	ENSP00000333735:A321S	ENSP00000333735:A321S	A	+	1	0	C15orf2	22473068	0.000000	0.05858	0.000000	0.03702	0.331000	0.28603	-1.280000	0.02804	-0.022000	0.13986	-0.676000	0.03789	GCC	NPAP1	-	NULL	ENSG00000185823		0.587	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1		0	15	0	G	NM_018958		24921975	1			no_errors	ENST00000329468	ensembl	human	known	74_37	missense	33.33	6	3	SNP	0.000	T	T	24921975	G	T	24921975	3	4	62	1	0	0	0	0	1	0	0	0	1789	1319	46	3	963	3	C15orf2	15	24921975	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		24921975	77609417	99	17567											
RPUSD2	27079	genome.wustl.edu	37	chr15	40864010	40864010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagctacaccccttgcatCggcttgaccgccttacctca	8	9	8	16	2	1	1	1	1	0	0	2	2	1	2	5	2	4	3	5	2	2	4	rs140454770		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr15:40864010C>T	ENST00000315616.7	+	2	852	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	RPUSD2_ENST00000559271.1_Missense_Mutation_p.R211W	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	272					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.R272W(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CCCCTTGCATCGGCTTGACCG	0.562													C|||	1	0.000199681	8e-04	0	5008	,	,		21419	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	skin(1)											143	122	129					15																	40864010		2203	4300	6503	SO:0001583	missense	0			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.814C>T	15.37:g.40864010C>T	ENSP00000323288:p.Arg272Trp		B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.R272W	ENST00000315616.7	37	c.814	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228251	0.79576	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.61040	0.14	6.17	5.19	0.71726	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, RluC/RluD, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	H	0.99498	4.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91736	0.5400	10	0.87932	D	0	-19.5561	16.3651	0.83317	0.2155:0.7845:0.0:0.0	.	272	Q8IZ73	RUSD2_HUMAN	W	272;251	ENSP00000323288:R272W	ENSP00000323288:R272W	R	+	1	2	RPUSD2	38651302	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.103000	0.50298	2.941000	0.99782	0.655000	0.94253	CGG	RPUSD2	-	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	ENSG00000166133		0.562	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	-	0	52	0	C	NM_152260		40864010	1	tier1	rs140454770	no_errors	ENST00000315616	ensembl	human	known	74_37	missense	15.87	53	10	SNP	1.000	T	T	40864010	C	T	40864010	3	4	62	1	0	0	0	0	1	0	0	0	13712	875	31	1	820	1	RPUSD2	15	40864010	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	15942035	40864010	61667382	100	17568											
ALPK3	57538	genome.wustl.edu	37	chr15	85406098	85406098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcttgtgtttgggccCagcagtgagacttctcttgt	5	14	12	10	0	1	1	0	1	1	1	2	2	1	1	2	1	3	3	2	1	0	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr15:85406098C>T	ENST00000258888.5	+	10	5135	c.4968C>T	c.(4966-4968)ccC>ccT	p.P1656P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1656	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTTTGGGCCCAGCAGTGAGA	0.567																																																	0													139	139	139					15																	85406098		2203	4299	6502	SO:0001819	synonymous_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4968C>T	15.37:g.85406098C>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.P1656	ENST00000258888.5	37	c.4968	CCDS10333.1	15																																																																																			ALPK3	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000136383		0.567	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	63	0	C	NM_020778		85406098	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	silent	28.89	32	13	SNP	1.000	T	T	85406098	C	T	85406098	2	4	62	1	0	0	0	0	0	0	0	1	546	581	21	3		3	ALPK3	15	85406098	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	44542088	85406098	17125294	101	17569											
LRRC28	123355	genome.wustl.edu	37	chr15	99796172	99796172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatattcagtcatggcgtccGaactttgtaagacgatctct	10	14	8	9	3	3	1	2	0	1	1	5	3	4	1	1	1	1	1	1	1	4	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr15:99796172G>A	ENST00000301981.3	+	2	250	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	AC022819.1_ENST00000581052.1_RNA|LRRC28_ENST00000447360.2_Missense_Mutation_p.E4K|LRRC28_ENST00000331450.5_Missense_Mutation_p.E4K|LRRC28_ENST00000442993.2_Missense_Mutation_p.E4K|LRRC28_ENST00000422500.2_Missense_Mutation_p.E4K|LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Missense_Mutation_p.E4K	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	4										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CATGGCGTCCGAACTTTGTAA	0.378																																																	0													97	92	94					15																	99796172		2197	4297	6494	SO:0001583	missense	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.10G>A	15.37:g.99796172G>A	ENSP00000304923:p.Glu4Lys		A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E4K	ENST00000301981.3	37	c.10	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177786	0.78564	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500;ENST00000442993;ENST00000331450	T;T;T;T	0.47177	0.97;0.85;1.58;0.99	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;D;D	0.74023	0.981;0.982;0.97;0.972	T	0.54748	-0.8247	10	0.39692	T	0.17	.	19.0086	0.92863	0.0:0.0:1.0:0.0	.	4;4;4;4	B4DHL3;Q8WUS2;Q86X40-2;Q86X40	.;.;.;LRC28_HUMAN	K	4	ENSP00000304923:E4K;ENSP00000404520:E4K;ENSP00000398606:E4K;ENSP00000404206:E4K	ENSP00000304923:E4K	E	+	1	0	LRRC28	97613695	1.000000	0.71417	0.970000	0.41538	0.848000	0.48234	9.209000	0.95087	2.729000	0.93468	0.650000	0.86243	GAA	LRRC28	-	NULL	ENSG00000168904		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	-	0	77	0	G	NM_144598		99796172	1	tier1	-	no_errors	ENST00000301981	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	A	A	99796172	G	A	99796172	3	1	62	1	0	0	0	0	1	0	0	0	9017	1059	37	1	12	1	LRRC28	15	99796172	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	14390074	99796172	2735220	102	17570											
CHSY1	22856	genome.wustl.edu	37	chr15	101718692	101718692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatggggttcacccggCggtagccgtactggatctct	7	10	12	12	3	2	0	1	0	1	0	3	1	2	1	2	5	3	3	2	5	3	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr15:101718692C>T	ENST00000254190.3	-	3	1785	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	437					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTCACCCGGCGGTAGCCGTA	0.532																																																	0													54	54	54					15																	101718692		2203	4300	6503	SO:0001583	missense	0			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	17198	protein-coding gene	gene with protein product		608183	"carbohydrate (chondroitin) synthase 1"			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1310G>A	15.37:g.101718692C>T	ENSP00000254190:p.Arg437His		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.R437H	ENST00000254190.3	37	c.1310	CCDS10390.1	15	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071577	0.36566	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.20332	2.08	5.8	4.89	0.63831	.	0.059827	0.64402	N	0.000004	T	0.24198	0.0586	L	0.45285	1.41	0.58432	D	0.999999	P	0.41947	0.766	B	0.43680	0.427	T	0.01356	-1.1376	10	0.39692	T	0.17	-43.9336	14.9774	0.71286	0.0:0.9317:0.0:0.0683	.	437	Q86X52	CHSS1_HUMAN	H	437;165	ENSP00000254190:R437H	ENSP00000254190:R437H	R	-	2	0	CHSY1	99536215	1.000000	0.71417	0.591000	0.28745	0.946000	0.59487	5.818000	0.69236	1.454000	0.47793	0.655000	0.94253	CGC	CHSY1	-	pfam_Chond_GalNAc	ENSG00000131873		0.532	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	-	0	55	0	C	NM_014918		101718692	-1	tier1	-	no_errors	ENST00000254190	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.997	T	T	101718692	C	T	101718692	3	4	62	1	0	0	0	0	1	0	0	0	3419	768	27	1	1102	1	CHSY1	15	101718692	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	1922520	101718692	812700	103	17571											
SLC12A3	6559	genome.wustl.edu	37	chr16	56918001	56918001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactacaacaagtgggcggcGctgtttggggctatcatctc	8	11	12	10	2	2	0	1	0	1	0	3	0	2	0	0	4	3	3	0	4	5	4	rs387907471		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr16:56918001G>A	ENST00000563236.1	+	14	1735	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	SLC12A3_ENST00000262502.5_Silent_p.A569A|SLC12A3_ENST00000438926.2_Silent_p.A570A|SLC12A3_ENST00000566786.1_Silent_p.A569A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	570					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGTGGGCGGCGCTGTTTGGGG	0.587																																																	0													194	152	166					16																	56918001		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1710G>A	16.37:g.56918001G>A			A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A570	ENST00000563236.1	37	c.1710	CCDS58464.1	16																																																																																			SLC12A3	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.587	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	-	0	64	0	G			56918001	1	tier1	-	no_errors	ENST00000438926	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.145	A	A	56918001	G	A	56918001	2	1	62	1	0	0	0	0	0	0	0	1	14429	1074	38	1		1	SLC12A3	16	56918001	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		56918001	33436752	104	17572											
CDH5	1003	genome.wustl.edu	37	chr16	66423357	66423357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagggcctccggggggActcgggcacggccaccgtgc	4	4	17	16	4	0	0	0	0	0	0	2	1	1	1	5	6	2	1	5	6	0	0			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr16:66423357A>G	ENST00000341529.3	+	5	861	c.713A>G	c.(712-714)gAc>gGc	p.D238G	CDH5_ENST00000563425.2_Missense_Mutation_p.D238G	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CTCCGGGGGGACTCGGGCACG	0.597																																																	0													61	61	61					16																	66423357		2202	4300	6502	SO:0001583	missense	0			X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"CD molecules", "Cadherins / Major cadherins"	1764	protein-coding gene	gene with protein product	"VE-cadherin"	601120	"cadherin 5, type 2, VE-cadherin (vascular epithelium)"			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.713A>G	16.37:g.66423357A>G	ENSP00000344115:p.Asp238Gly		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D238G	ENST00000341529.3	37	c.713	CCDS10804.1	16	.	.	.	.	.	.	.	.	.	.	A	15.06	2.721977	0.48728	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.52057	0.68	5.69	5.69	0.88448	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.45637	0.1352	L	0.29908	0.895	0.80722	D	1	B	0.27264	0.173	B	0.38156	0.266	T	0.48592	-0.9022	9	0.87932	D	0	.	15.1403	0.72607	1.0:0.0:0.0:0.0	.	238	P33151	CADH5_HUMAN	G	238	ENSP00000344115:D238G	ENSP00000344115:D238G	D	+	2	0	CDH5	64980858	1.000000	0.71417	0.621000	0.29145	0.606000	0.37113	6.454000	0.73493	2.175000	0.68902	0.533000	0.62120	GAC	CDH5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000179776		0.597	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH5	HGNC	protein_coding	OTTHUMT00000268767.1	-	0	51	0	A	NM_001795		66423357	1	tier1	-	no_errors	ENST00000341529	ensembl	human	known	74_37	missense	12.28	50	7	SNP	0.993	G	G	66423357	A	G	66423357	3	3	62	1	0	0	0	0	1	0	0	0	3120	275	10	4	727	4	CDH5	16	66423357	Missense_Mutation	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	9505356	66423357	23931396	105	17573											
CLEC18A	348174	genome.wustl.edu	37	chr16	69988452	69988452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagagtgtgctcgcaaCgccacctgcacccactacac	10	5	10	16	2	0	1	0	0	0	1	1	2	0	1	3	1	4	4	3	1	2	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr16:69988452C>T	ENST00000288040.6	+	3	619	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CLEC18A_ENST00000568461.1_Silent_p.N144N|CLEC18A_ENST00000449317.2_Silent_p.N144N|CLEC18A_ENST00000393701.2_Silent_p.N144N	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	144	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GTGCTCGCAACGCCACCTGCA	0.612																																																	0													19	21	20					16																	69988452		2190	4250	6440	SO:0001819	synonymous_variant	0			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"C-type lectin domain containing"	30388	protein-coding gene	gene with protein product	"mannose receptor-like"					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.432C>T	16.37:g.69988452C>T			A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Silent	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.N144	ENST00000288040.6	37	c.432	CCDS10886.1	16																																																																																			CLEC18A	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000157322		0.612	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18A	HGNC	protein_coding	OTTHUMT00000268955.2		0	64	0	C	NM_182619		69988452	1			no_errors	ENST00000449317	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.211	T	T	69988452	C	T	69988452	2	4	62	1	0	0	0	0	0	0	0	1	3509	535	19	1		1	CLEC18A	16	69988452	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	3565095	69988452	20366301	106	17574											
ZC3H18	124245	genome.wustl.edu	37	chr16	88694106	88694106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcacacagcgtggactcgGaggacatgtacgcagacctg	10	6	13	12	3	0	1	0	0	0	1	1	4	0	4	1	3	3	3	1	3	1	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr16:88694106G>A	ENST00000301011.5	+	14	2385	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E753K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	729	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGTGGACTCGGAGGACATGTA	0.632																																					Ovarian(121;375 2276 20373 38669)												0													104	70	81					16																	88694106		2198	4300	6498	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2185G>A	16.37:g.88694106G>A	ENSP00000301011:p.Glu729Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E729K	ENST00000301011.5	37	c.2185	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368562	0.82463	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.35605	1.3;1.4	4.69	4.69	0.59074	.	0.485666	0.23684	N	0.045589	T	0.35740	0.0942	L	0.36672	1.1	0.49798	D	0.999829	B;B	0.29136	0.234;0.234	B;B	0.35240	0.198;0.198	T	0.17837	-1.0356	10	0.39692	T	0.17	-8.7441	17.9725	0.89117	0.0:0.0:1.0:0.0	.	753;729	E7ERS3;Q86VM9	.;ZCH18_HUMAN	K	729;753	ENSP00000301011:E729K;ENSP00000416951:E753K	ENSP00000301011:E729K	E	+	1	0	ZC3H18	87221607	1.000000	0.71417	0.250000	0.24296	0.981000	0.71138	9.436000	0.97532	2.322000	0.78497	0.491000	0.48974	GAG	ZC3H18	-	NULL	ENSG00000158545		0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1		0	31	0	G	NM_144604		88694106	1			no_errors	ENST00000301011	ensembl	human	known	74_37	missense	7.69	35	3	SNP	0.996	A	A	88694106	G	A	88694106	3	1	62	1	0	0	0	0	1	0	0	0	17616	1175	41	3	2235	3	ZC3H18	16	88694106	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	18705654	88694106	1660647	107	17575											
CBFA2T3	863	genome.wustl.edu	37	chr16	88947727	88947727	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccttcgggaccggcggaGctgctgcggggccgggccgc	2	4	20	15	6	0	0	0	0	0	0	1	2	0	2	4	7	3	2	4	7	0	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr16:88947727G>A	ENST00000268679.4	-	9	1770	c.1374C>T	c.(1372-1374)agC>agT	p.S458S	CBFA2T3_ENST00000360302.2_Silent_p.S372S|CBFA2T3_ENST00000327483.5_Silent_p.S372S|RP11-830F9.5_ENST00000565053.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.S382S|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.S420S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	458					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GACCGGCGGAGCTGCTgcggg	0.736			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0													9	10	10					16																	88947727		2143	4239	6382	SO:0001819	synonymous_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1374C>T	16.37:g.88947727G>A			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.S458	ENST00000268679.4	37	c.1374	CCDS10972.1	16																																																																																			CBFA2T3	-	NULL	ENSG00000129993		0.736	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0	48	0	G	NM_005187		88947727	-1	tier1	-	no_errors	ENST00000268679	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.997	A	A	88947727	G	A	88947727	2	1	62	1	0	0	0	0	0	0	0	1	2705	962	34	3		3	CBFA2T3	16	88947727	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	253621	88947727	1407026	108	17576											
C17orf81	23587	genome.wustl.edu	37	chr17	7161975	7161975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctctgtagagtcccaGccctactccgatcctcatat	7	10	8	16	1	2	1	1	0	1	1	5	2	5	1	5	1	2	1	5	1	3	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr17:7161975G>T	ENST00000396628.2	+	6	925	c.708G>T	c.(706-708)caG>caT	p.Q236H	ELP5_ENST00000574993.1_Missense_Mutation_p.Q236H|ELP5_ENST00000354429.2_Missense_Mutation_p.Q236H|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000396627.2_Missense_Mutation_p.Q236H|ELP5_ENST00000356683.2_Missense_Mutation_p.Q236H	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	236					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											TAGAGTCCCAGCCCTACTCCG	0.468																																																	0													100	113	109					17																	7161975		2203	4300	6503	SO:0001583	missense	0			BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"Elongator acetyltransferase complex subunits"	30617	protein-coding gene	gene with protein product	"dermal papilla derived protein 6", "S-phase 2 protein"	615019	"chromosome 17 open reading frame 81"	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.708G>T	17.37:g.7161975G>T	ENSP00000379869:p.Gln236His		A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	pfam_Elp5	p.Q236H	ENST00000396628.2	37	c.708	CCDS11094.1	17	.	.	.	.	.	.	.	.	.	.	G	15.87	2.962154	0.53400	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.46819	1.5;1.5;1.5;0.86	4.88	4.88	0.63580	.	0.325603	0.30920	N	0.008613	T	0.60183	0.2249	L	0.57536	1.79	0.22034	N	0.999401	P;P;D	0.53462	0.95;0.917;0.96	P;P;P	0.61533	0.824;0.671;0.89	T	0.52704	-0.8540	10	0.38643	T	0.18	-7.7525	13.3914	0.60827	0.0:0.0:1.0:0.0	.	236;236;236	Q8TE02-2;A8K1M5;Q8TE02	.;.;DERP6_HUMAN	H	236	ENSP00000346412:Q236H;ENSP00000379869:Q236H;ENSP00000379868:Q236H;ENSP00000349111:Q236H	ENSP00000346412:Q236H	Q	+	3	2	C17orf81	7102699	0.931000	0.31567	0.375000	0.26029	0.008000	0.06430	2.779000	0.47734	2.527000	0.85204	0.561000	0.74099	CAG	ELP5	-	pfam_Elp5	ENSG00000170291		0.468	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ELP5	HGNC	protein_coding	OTTHUMT00000440111.1	-	0	33	0	G	NM_015362		7161975	1	tier1	-	no_errors	ENST00000354429	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.539	T	T	7161975	G	T	7161975	3	4	62	1	0	0	0	0	1	0	0	0	1892	962	34	3	730	3	C17orf81	17	7161975	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		7161975	74033235	109	17577											
MSL1	339287	genome.wustl.edu	37	chr17	38285497	38285497	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttccctatctaataGgaaatccccatttggaagta	11	15	6	9	0	2	0	0	0	2	0	4	2	4	2	3	2	0	2	3	2	6	8			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr17:38285497G>T	ENST00000398532.4	+	3	1307		c.e3-1		MSL1_ENST00000579565.1_Splice_Site|MSL1_ENST00000578648.1_Splice_Site|MSL1_ENST00000577454.1_Splice_Site	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CTATCTAATAGGAAATCCCCA	0.333																																																	0													48	50	50					17																	38285497		1786	4052	5838	SO:0001630	splice_region_variant	0				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.993-1G>T	17.37:g.38285497G>T			Q0VF46|Q69Z03	Splice_Site	SNP	-	e3-1	ENST00000398532.4	37	c.993-1		17	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379818	0.82682	.	.	ENSG00000188895	ENST00000339569;ENST00000398532	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2052	0.98274	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSL1	35539023	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.925000	0.87563	2.873000	0.98535	0.563000	0.77884	.	MSL1	-	-	ENSG00000188895		0.333	MSL1-003	KNOWN	basic	protein_coding	MSL1	HGNC	protein_coding	OTTHUMT00000447409.2		0	26	0	G	NM_001012241	Intron	38285497	1			no_errors	ENST00000398532	ensembl	human	known	74_37	splice_site	7.41	25	2	SNP	1.000	T	T	38285497	G	T	38285497	5	4	62	1	0	0	0	0	0	0	1	0	9915	1014	35	3	209	3	MSL1	17	38285497	Splice_Site	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	31123522	38285497	42909713	110	17578											
KRTAP17-1	83902	genome.wustl.edu	37	chr17	39471766	39471767	+	Frame_Shift_Ins	INS	-	-	C																															gcagctgcccccgcagccagINSagcccccgcagccagagccc																								rs572148015|rs386797077	byFrequency	TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr17:39471766_39471767insC	ENST00000334202.3	-	1	180_181	c.136_137insG	c.(136-138)tctfs	p.S46fs		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	46						intermediate filament (GO:0005882)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cccgcagccagagcccccgcag	0.683																																																	0																																										SO:0001589	frameshift_variant	0			AJ406952	CCDS11387.1	17q21.2	2013-06-20			ENSG00000186860	ENSG00000186860		"Keratin associated proteins"	18917	protein-coding gene	gene with protein product							Standard	NM_031964		Approved	KAP17.1	uc002hwj.3	Q9BYP8	OTTHUMG00000133433	ENST00000334202.3:c.136_137insG	17.37:g.39471766_39471767insC	ENSP00000333993:p.Ser46fs			Frame_Shift_Ins	INS	NULL	p.S46fs	ENST00000334202.3	37	c.137_136	CCDS11387.1	17																																																																																			KRTAP17-1	-	NULL	ENSG00000186860		0.683	KRTAP17-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP17-1	HGNC	protein_coding	OTTHUMT00000257296.1		0	20	0	-			39471767	-1	tier1		no_errors	ENST00000334202	ensembl	human	known	74_37	frame_shift_ins	15.62	27	5	INS	0.000:0.001	C	C	39471767	-	C	39471766	7	5	62	1	0	1	1	0	0	0	0	0	8554	942	33	0	184	0	KRTAP17-1	17	39471766	Frame_Shift_Ins	INS	-	TCGA-L5-A4OO-01A-11D-A27G-09	1186269	39471766	41723444	111	17579											
KRT9	3857	genome.wustl.edu	37	chr17	39723706	39723706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccccacttcctcctccaGagccacttcctcctccatag	7	9	3	22	0	0	1	0	0	0	1	6	1	6	1	9	0	1	0	9	0	1	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr17:39723706G>A	ENST00000246662.4	-	7	1756	c.1691C>T	c.(1690-1692)tCt>tTt	p.S564F	KRT9_ENST00000588431.1_Missense_Mutation_p.S331F	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	564	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				tcctcctccagagccacttcc	0.592																																																	0													263	189	214					17																	39723706		2162	4244	6406	SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1691C>T	17.37:g.39723706G>A	ENSP00000246662:p.Ser564Phe		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.S564F	ENST00000246662.4	37	c.1691	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.259651	0.01445	.	.	ENSG00000171403	ENST00000246662	D	0.91068	-2.78	3.11	-0.641	0.11490	.	1.236650	0.06253	N	0.692464	D	0.84106	0.5399	N	0.24115	0.695	0.20074	N	0.999937	P	0.36065	0.535	B	0.39771	0.309	T	0.75068	-0.3448	10	0.87932	D	0	.	5.4453	0.16531	0.0:0.1946:0.4078:0.3976	.	564	P35527	K1C9_HUMAN	F	564	ENSP00000246662:S564F	ENSP00000246662:S564F	S	-	2	0	KRT9	36977232	0.000000	0.05858	0.264000	0.24511	0.024000	0.10985	0.123000	0.15708	0.054000	0.16065	-0.296000	0.09543	TCT	KRT9	-	NULL	ENSG00000171403		0.592	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	-	0	179	0	G	NM_000226		39723706	-1	tier1	-	no_errors	ENST00000246662	ensembl	human	known	74_37	missense	17.53	127	27	SNP	0.147	A	A	39723706	G	A	39723706	3	1	62	1	0	0	0	0	1	0	0	0	8528	942	33	3	184	3	KRT9	17	39723706	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	251940	39723706	41471504	112	17580											
SNX11	29916	genome.wustl.edu	37	chr17	46189952	46189952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggtgattacagtgcGtgttcaggacccccgagtgc	9	8	14	10	2	1	1	1	1	0	0	1	4	1	3	2	3	3	1	2	3	1	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr17:46189952G>A	ENST00000393405.2	+	4	413	c.59G>A	c.(58-60)cGt>cAt	p.R20H	SNX11_ENST00000439357.2_5'UTR|SNX11_ENST00000582104.1_Missense_Mutation_p.R12H|SNX11_ENST00000452859.2_Intron|SNX11_ENST00000359238.2_Missense_Mutation_p.R20H|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000580219.1_Missense_Mutation_p.R12H	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	20	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						ATTACAGTGCGTGTTCAGGAC	0.488																																																	0													217	213	214					17																	46189952		2203	4300	6503	SO:0001583	missense	0			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.59G>A	17.37:g.46189952G>A	ENSP00000377059:p.Arg20His		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R20H	ENST00000393405.2	37	c.59	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211706	0.58452	.	.	ENSG00000002919	ENST00000393405;ENST00000359238	T;T	0.39229	1.09;1.09	5.22	5.22	0.72569	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.46952	-0.9154	10	0.15499	T	0.54	0.1568	15.6958	0.77494	0.0:0.0:1.0:0.0	.	12;20	B4DPY5;Q9Y5W9	.;SNX11_HUMAN	H	20	ENSP00000377059:R20H;ENSP00000352175:R20H	ENSP00000352175:R20H	R	+	2	0	SNX11	43544951	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.122000	0.94380	2.446000	0.82766	0.455000	0.32223	CGT	SNX11	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000002919		0.488	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	-	0	61	0	G			46189952	1	tier1	-	no_errors	ENST00000359238	ensembl	human	known	74_37	missense	17.65	56	12	SNP	1.000	A	A	46189952	G	A	46189952	3	1	62	1	0	0	0	0	1	0	0	0	14927	1145	40	1	65	1	SNX11	17	46189952	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	6466246	46189952	35005258	113	17581											
DLX4	1748	genome.wustl.edu	37	chr17	48050513	48050513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaaaaagctccgcaagccGaggaccatctactccagcct	12	5	8	16	2	1	0	0	0	1	0	3	2	3	1	6	1	4	2	6	1	4	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr17:48050513G>A	ENST00000240306.3	+	2	655	c.360G>A	c.(358-360)ccG>ccA	p.P120P	DLX4_ENST00000411890.2_Silent_p.P48P|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	120					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P120P(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TCCGCAAGCCGAGGACCATCT	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											32	36	34					17																	48050513		2201	4300	6501	SO:0001819	synonymous_variant	0				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"Homeoboxes / ANTP class : NKL subclass"	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.360G>A	17.37:g.48050513G>A			D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P120	ENST00000240306.3	37	c.360	CCDS11555.1	17																																																																																			DLX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000108813		0.677	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	-	0	60	0	G			48050513	1	tier1	-	no_errors	ENST00000240306	ensembl	human	known	74_37	silent	23.44	49	15	SNP	0.001	A	A	48050513	G	A	48050513	2	1	62	1	0	0	0	0	0	0	0	1	4587	1045	37	1		1	DLX4	17	48050513	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	1860561	48050513	33144697	114	17582											
CDKN2D	1032	genome.wustl.edu	37	chr19	10677846	10677846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccctgcgatggagatcaGattcagctgccagaaagctg	10	8	12	11	2	2	3	2	0	0	3	3	5	3	3	2	1	4	2	2	1	1	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:10677846G>T	ENST00000393599.2	-	2	713	c.389C>A	c.(388-390)tCt>tAt	p.S130Y	CDKN2D_ENST00000335766.2_Missense_Mutation_p.S130Y|KRI1_ENST00000312962.6_5'Flank|KRI1_ENST00000361821.5_5'Flank|KRI1_ENST00000537964.1_5'Flank	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)	130					autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			ATGGAGATCAGATTCAGCTGC	0.607																																																	0													119	111	114					19																	10677846		2203	4300	6503	SO:0001583	missense	0				CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"Ankyrin repeat domain containing"	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273		ENST00000393599.2:c.389C>A	19.37:g.10677846G>T	ENSP00000377224:p.Ser130Tyr		Q13102|Q6FGE9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S130Y	ENST00000393599.2	37	c.389	CCDS12244.1	19	.	.	.	.	.	.	.	.	.	.	g	23.2	4.392728	0.83011	.	.	ENSG00000129355	ENST00000335766;ENST00000393599	T;T	0.65364	-0.15;-0.15	4.96	4.96	0.65561	Ankyrin repeat-containing domain (4);	0.132945	0.51477	D	0.000086	T	0.74974	0.3787	L	0.54323	1.7	0.58432	D	0.999996	D	0.76494	0.999	D	0.69479	0.964	T	0.78059	-0.2352	10	0.87932	D	0	-15.0509	16.9548	0.86256	0.0:0.0:1.0:0.0	.	130	P55273	CDN2D_HUMAN	Y	130	ENSP00000337056:S130Y;ENSP00000377224:S130Y	ENSP00000337056:S130Y	S	-	2	0	CDKN2D	10538846	1.000000	0.71417	0.718000	0.30602	0.907000	0.53573	8.564000	0.90726	2.293000	0.77203	0.462000	0.41574	TCT	CDKN2D	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000129355		0.607	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2D	HGNC	protein_coding	OTTHUMT00000452030.1	-	0	45	0	G	NM_079421		10677846	-1	tier1	-	no_errors	ENST00000335766	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.827	T	T	10677846	G	T	10677846	3	4	62	1	0	0	0	0	1	0	0	0	3173	942	33	3	115	3	CDKN2D	19	10677846	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		10677846	48451137	115	17583											
USHBP1	83878	genome.wustl.edu	37	chr19	17373543	17373543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggaacctgctcccccttCgcttgtgccttcgaactcca	7	10	8	16	2	0	0	0	0	0	0	4	2	2	1	5	1	4	2	5	1	3	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:17373543C>T	ENST00000252597.3	-	4	633	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.E90K	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCTCCCCCTTCGCTTGTGCCT	0.687																																																	0													61	60	60					19																	17373543		2203	4299	6502	SO:0001583	missense	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.460G>A	19.37:g.17373543C>T	ENSP00000252597:p.Glu154Lys			Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.E154K	ENST00000252597.3	37	c.460	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154796	0.21371	.	.	ENSG00000130307	ENST00000252597;ENST00000431146;ENST00000324554	T;T	0.19806	2.12;2.12	3.85	-4.62	0.03370	.	1.562500	0.04263	N	0.340740	T	0.14442	0.0349	L	0.29908	0.895	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.36578	-0.9742	10	0.62326	D	0.03	-0.0481	6.1758	0.20442	0.0:0.3357:0.3861:0.2782	.	90;154;154	B4DUE8;Q8N8Y1;Q8N6Y0	.;.;USBP1_HUMAN	K	154;90;154	ENSP00000252597:E154K;ENSP00000407902:E90K	ENSP00000252597:E154K	E	-	1	0	USHBP1	17234543	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.009000	0.03660	-0.993000	0.03467	-1.595000	0.00837	GAA	USHBP1	-	NULL	ENSG00000130307		0.687	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	-	0	121	0	C	NM_031941		17373543	-1	tier1	-	no_errors	ENST00000252597	ensembl	human	known	74_37	missense	37.70	76	46	SNP	0.000	T	T	17373543	C	T	17373543	3	4	62	1	0	0	0	0	1	0	0	0	17086	893	31	1	1691	1	USHBP1	19	17373543	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	6695697	17373543	41755440	116	17584											
MAP3K10	4294	genome.wustl.edu	37	chr19	40710471	40710471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggccgtggcgtatggcGtggctatgaataagctgacg	7	10	15	9	4	0	2	0	2	0	0	0	2	0	2	2	4	1	3	2	4	4	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:40710471G>A	ENST00000253055.3	+	3	1231	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	AC118344.1_ENST00000408124.1_RNA|MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	315	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCGTATGGCGTGGCTATGAA	0.682																																																	0													107	72	84					19																	40710471		2203	4300	6503	SO:0001583	missense	0			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.943G>A	19.37:g.40710471G>A	ENSP00000253055:p.Val315Met		Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.V315M	ENST00000253055.3	37	c.943	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.135101	0.94517	.	.	ENSG00000130758	ENST00000253055	D	0.84442	-1.85	5.13	5.13	0.70059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.142016	0.46442	D	0.000296	D	0.91314	0.7261	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92122	0.5705	10	0.87932	D	0	.	16.4246	0.83810	0.0:0.0:1.0:0.0	.	315	Q02779	M3K10_HUMAN	M	315	ENSP00000253055:V315M	ENSP00000253055:V315M	V	+	1	0	MAP3K10	45402311	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.790000	0.99075	2.542000	0.85734	0.650000	0.86243	GTG	MAP3K10	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000130758		0.682	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	-	0	48	0	G	NM_002446		40710471	1	tier1	-	no_errors	ENST00000253055	ensembl	human	known	74_37	missense	40.68	35	24	SNP	1.000	A	A	40710471	G	A	40710471	3	1	62	1	0	0	0	0	1	0	0	0	9282	1145	40	1	953	1	MAP3K10	19	40710471	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	23336928	40710471	18418512	117	17585											
PSG1	5669	genome.wustl.edu	37	chr19	43376083	43376083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggaggctctgaccattcAtccaccacaggtagcttgcg	9	9	11	12	1	2	1	1	1	1	0	3	2	3	2	3	3	2	3	3	3	2	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:43376083A>G	ENST00000436291.2	-	3	661	c.545T>C	c.(544-546)aTg>aCg	p.M182T	PSG1_ENST00000403380.3_Intron|PSG1_ENST00000244296.2_Missense_Mutation_p.M182T|PSG1_ENST00000595124.1_Intron|PSG1_ENST00000595356.1_Missense_Mutation_p.M182T|PSG1_ENST00000312439.6_Missense_Mutation_p.M182T	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	182	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTGACCATTCATCCACCACAG	0.522																																																	0													269	259	263					19																	43376083		2201	4298	6499	SO:0001583	missense	0				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.545T>C	19.37:g.43376083A>G	ENSP00000413041:p.Met182Thr		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.M182T	ENST00000436291.2	37	c.545	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	5.712	0.315874	0.10789	.	.	ENSG00000231924	ENST00000436291;ENST00000312439;ENST00000244296	T;T;T	0.11930	2.73;2.73;2.73	1.46	1.46	0.22682	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09069	0.0224	N	0.11201	0.11	0.09310	N	1	B;B;P;B;B;B;B;B	0.39131	0.389;0.143;0.661;0.074;0.21;0.387;0.389;0.409	B;B;P;B;B;B;B;B	0.44447	0.369;0.173;0.45;0.113;0.266;0.158;0.369;0.253	T	0.25257	-1.0137	9	0.72032	D	0.01	.	4.9592	0.14057	1.0:0.0:0.0:0.0	.	182;182;182;182;182;54;182;182	O75238;P11464-4;P11464;P11464-3;Q9UPK8;B4DTG5;O75237;P11464-2	.;.;PSG1_HUMAN;.;.;.;.;.	T	182	ENSP00000413041:M182T;ENSP00000308970:M182T;ENSP00000244296:M182T	ENSP00000244296:M182T	M	-	2	0	PSG1	48067923	0.003000	0.15002	0.006000	0.13384	0.018000	0.09664	0.914000	0.28624	0.652000	0.30806	0.155000	0.16302	ATG	PSG1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000231924		0.522	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	-	0	215	0	A			43376083	-1	tier1	-	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	6.61	240	17	SNP	0.013	G	G	43376083	A	G	43376083	3	3	62	1	0	0	0	0	1	0	0	0	12695	217	8	4	783	4	PSG1	19	43376083	Missense_Mutation	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	2665612	43376083	15752900	118	17586											
PSG9	5678	genome.wustl.edu	37	chr19	43763024	43763024	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagaggacatttaggaTgactgggttactgcggaggc	10	9	14	8	1	1	2	1	1	0	1	1	5	1	5	0	5	2	1	0	5	2	3	rs140571643		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:43763024T>A	ENST00000270077.3	-	4	1069	c.973A>T	c.(973-975)Atc>Ttc	p.I325F	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.I232F|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.I232F	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	325	Ig-like C2-type 2.		I -> T (in dbSNP:rs1135905).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ACATTTAGGATGACTGGGTTA	0.498																																																	0								A	PHE/ILE	1,4267		0,1,2133	98	102	100		973	-2.1	0	19	dbSNP_134	100	0,8558		0,0,4279	no	missense	PSG9	NM_002784.3	21	0,1,6412	AA,AT,TT		0.0,0.0234,0.0078	benign	325/427	43763024	1,12825	2134	4279	6413	SO:0001583	missense	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.973A>T	19.37:g.43763024T>A	ENSP00000270077:p.Ile325Phe		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I325F	ENST00000270077.3	37	c.973	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	N	0.920	-0.716186	0.03206	2.34E-4	0.0	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.12672	2.66;2.66	1.39	-2.06	0.07298	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07728	0.0194	N	0.24115	0.695	0.09310	N	1	B;B	0.17852	0.024;0.0	B;B	0.19391	0.025;0.002	T	0.30937	-0.9961	9	0.56958	D	0.05	.	2.3522	0.04286	0.2772:0.0:0.2833:0.4395	.	232;325	E7EW65;Q00887	.;PSG9_HUMAN	F	325;232;286	ENSP00000270077:I325F;ENSP00000396753:I232F	ENSP00000270077:I325F	I	-	1	0	PSG9	48454864	0.014000	0.17966	0.002000	0.10522	0.000000	0.00434	0.635000	0.24629	-2.196000	0.00751	-3.801000	0.00020	ATC	PSG9	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000183668		0.498	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	-	0	226	0	T	NM_002784		43763024	-1	tier1	rs140571643	no_errors	ENST00000270077	ensembl	human	known	74_37	missense	23.78	218	68	SNP	0.023	A	A	43763024	T	A	43763024	3	1	62	1	0	0	0	0	1	0	0	0	12704	1464	51	5	319	5	PSG9	19	43763024	Missense_Mutation	SNP	T	TCGA-L5-A4OO-01A-11D-A27G-09	386941	43763024	15365959	119	17587											
MAMSTR	284358	genome.wustl.edu	37	chr19	49218580	49218580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccaggaggacccagggCggacccctcggcttgggggt	5	5	18	13	2	0	0	0	0	0	0	1	3	0	3	4	8	0	1	4	8	0	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:49218580C>T	ENST00000318083.6	-	5	427	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	MAMSTR_ENST00000594582.1_Missense_Mutation_p.A19T|MAMSTR_ENST00000356751.4_Missense_Mutation_p.A19T|MAMSTR_ENST00000419611.1_Missense_Mutation_p.A19T|MAMSTR_ENST00000377367.3_Missense_Mutation_p.A19T			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	122	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						GGACCCAGGGCGGACCCCTCG	0.622																																																	0													22	27	26					19																	49218580		2190	4282	6472	SO:0001583	missense	0			AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"MEF2-activating SAP transcriptional regulator"	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.364G>A	19.37:g.49218580C>T	ENSP00000324175:p.Ala122Thr		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom	p.A122T	ENST00000318083.6	37	c.364	CCDS46137.1	19	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746015	0.30955	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	3.38	1.17	0.20885	.	0.720175	0.11428	N	0.565055	T	0.16385	0.0394	N	0.14661	0.345	0.09310	N	1	B	0.25486	0.127	B	0.12156	0.007	T	0.23583	-1.0184	9	0.18710	T	0.47	-1.5896	4.2309	0.10602	0.0:0.6212:0.2405:0.1383	.	122	Q6ZN01	MASTR_HUMAN	T	122;19;19;19	.	ENSP00000324175:A122T	A	-	1	0	MAMSTR	53910392	0.006000	0.16342	0.001000	0.08648	0.943000	0.58893	0.533000	0.23082	0.410000	0.25675	0.549000	0.68633	GCC	MAMSTR	-	NULL	ENSG00000176909		0.622	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMSTR	HGNC	protein_coding	OTTHUMT00000466179.1	-	0	28	0	C	NM_182574		49218580	-1	tier1	-	no_errors	ENST00000318083	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.003	T	T	49218580	C	T	49218580	3	4	62	1	0	0	0	0	1	0	0	0	9247	768	27	1	907	1	MAMSTR	19	49218580	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	5455556	49218580	9910403	120	17588											
PPP2R1A	5518	genome.wustl.edu	37	chr19	52729031	52729031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaccaggatgtggacGtcaaatactttgcccaggag	11	7	12	11	1	1	0	1	0	0	0	1	4	1	4	3	4	2	0	3	4	2	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:52729031G>A	ENST00000322088.6	+	14	1781	c.1723G>A	c.(1723-1725)Gtc>Atc	p.V575I	CTD-2525I3.3_ENST00000599125.1_RNA|CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.V520I|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.V396I	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	575	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGATGTGGACGTCAAATACTT	0.572			Mis		clear cell ovarian carcinoma																																			Dom?	yes		19	19q13.41	5518	"protein phosphatase 2, regulatory subunit A, alpha"		E	0													150	144	146					19																	52729031		2203	4300	6503	SO:0001583	missense	0				CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9302	protein-coding gene	gene with protein product	"protein phosphatase 2A, regulatory subunit A, alpha isoform", "protein phosphatase 2, 65kDa regulatory subunit A"	605983	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1723G>A	19.37:g.52729031G>A	ENSP00000324804:p.Val575Ile		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.V575I	ENST00000322088.6	37	c.1723	CCDS12849.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762454	0.89932	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.40476	1.03;1.74	4.12	4.12	0.48240	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.50627	D	0.000105	T	0.72036	0.3411	H	0.94264	3.515	0.58432	D	0.999996	P;D	0.76494	0.912;0.999	P;D	0.71656	0.465;0.974	T	0.81197	-0.1042	10	0.87932	D	0	-37.928	14.2799	0.66205	0.0:0.0:1.0:0.0	.	520;575	F5H3X9;P30153	.;2AAA_HUMAN	I	565;495;575;142;520	ENSP00000324804:V575I;ENSP00000415067:V520I	ENSP00000324804:V575I	V	+	1	0	PPP2R1A	57420843	1.000000	0.71417	0.983000	0.44433	0.969000	0.65631	8.607000	0.90891	2.302000	0.77476	0.650000	0.86243	GTC	PPP2R1A	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000105568		0.572	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R1A	HGNC	protein_coding	OTTHUMT00000267967.2	-	0	53	0	G	NM_014225		52729031	1	tier1	-	no_errors	ENST00000322088	ensembl	human	known	74_37	missense	26.42	39	14	SNP	0.999	A	A	52729031	G	A	52729031	3	1	62	1	0	0	0	0	1	0	0	0	12424	1145	40	1	1777	1	PPP2R1A	19	52729031	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	3510451	52729031	6399952	121	17589											
ZNF677	342926	genome.wustl.edu	37	chr19	53747130	53747130	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaattctatggccacAtccttgaatgtaaacagtcc	13	11	8	9	0	1	3	0	2	1	1	3	4	3	3	3	1	1	1	3	1	5	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:53747130A>G	ENST00000598513.1	-	4	186	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF677_ENST00000333952.4_Silent_p.D12D|ZNF677_ENST00000598806.1_Silent_p.D12D|CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000599012.1_Silent_p.D12D|ZNF677_ENST00000594681.1_Silent_p.D12D|ZNF677_ENST00000601828.1_Silent_p.D12D|ZNF677_ENST00000601413.1_Silent_p.D12D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	12	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CTATGGCCACATCCTTGAATG	0.453																																																	0													87	82	83					19																	53747130		2203	4300	6503	SO:0001819	synonymous_variant	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.36T>C	19.37:g.53747130A>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D12	ENST00000598513.1	37	c.36	CCDS12861.1	19																																																																																			ZNF677	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197928		0.453	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0	63	0	A	NM_182609		53747130	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	silent	19.23	84	20	SNP	0.994	G	G	53747130	A	G	53747130	2	3	62	1	0	0	0	0	0	0	0	1	18132	214	8	4		4	ZNF677	19	53747130	Silent	SNP	A	TCGA-L5-A4OO-01A-11D-A27G-09	1018099	53747130	5381853	122	17590											
NLRP11	204801	genome.wustl.edu	37	chr19	56321171	56321171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaggaaccagcagcctgGagccatttttctcttcagca	10	10	10	11	0	2	1	1	1	1	0	3	4	2	3	3	2	5	2	3	2	1	3			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr19:56321171G>T	ENST00000589093.1	-	3	898	c.805C>A	c.(805-807)Cca>Aca	p.P269T	NLRP11_ENST00000592953.1_Missense_Mutation_p.P170T|NLRP11_ENST00000360133.3_Missense_Mutation_p.P269T|NLRP11_ENST00000443188.1_Missense_Mutation_p.P269T|NLRP11_ENST00000589824.2_Missense_Mutation_p.P269T			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	269	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGCAGCCTGGAGCCATTTTT	0.458																																																	0													65	67	66					19																	56321171		2203	4300	6503	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.805C>A	19.37:g.56321171G>T	ENSP00000466285:p.Pro269Thr		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P269T	ENST00000589093.1	37	c.805	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535042	0.27475	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.80653	-1.4;-1.4	2.42	1.37	0.22104	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.86904	0.6045	M	0.80422	2.495	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73757	-0.3882	9	0.87932	D	0	.	3.7538	0.08578	0.1531:0.2578:0.5891:0.0	.	269;269	P59045;P59045-2	NAL11_HUMAN;.	T	269	ENSP00000409898:P269T;ENSP00000353251:P269T	ENSP00000353251:P269T	P	-	1	0	NLRP11	61012983	0.029000	0.19370	0.004000	0.12327	0.001000	0.01503	1.703000	0.37846	0.581000	0.29539	-0.253000	0.11424	CCA	NLRP11	-	pfscan_NACHT_NTPase	ENSG00000179873		0.458	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1		0	47	0	G	NM_145007		56321171	-1			no_errors	ENST00000443188	ensembl	human	known	74_37	missense	6.25	44	3	SNP	0.001	T	T	56321171	G	T	56321171	3	4	62	1	0	0	0	0	1	0	0	0	10512	1174	41	3	2328	3	NLRP11	19	56321171	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	2574041	56321171	2807812	123	17591											
FOXA2	3170	genome.wustl.edu	37	chr20	22563091	22563091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcgccagctgcttctcGcacttgaagcgcttctggcg	5	11	11	14	4	3	1	1	1	2	0	4	1	3	1	1	1	4	4	1	1	1	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr20:22563091G>A	ENST00000377115.4	-	3	952	c.771C>T	c.(769-771)tgC>tgT	p.C257C	FOXA2_ENST00000419308.2_Silent_p.C263C	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	257					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCTGCTTCTCGCACTTGAAGC	0.697																																																	0													9	11	10					20																	22563091		2179	4272	6451	SO:0001819	synonymous_variant	0			AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"Forkhead boxes"	5022	protein-coding gene	gene with protein product		600288	"hepatocyte nuclear factor 3, beta"	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.771C>T	20.37:g.22563091G>A			Q8WUW4|Q96DF7	Silent	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.C263	ENST00000377115.4	37	c.789	CCDS13147.1	20																																																																																			FOXA2	-	NULL	ENSG00000125798		0.697	FOXA2-001	KNOWN	basic|CCDS	protein_coding	FOXA2	HGNC	protein_coding	OTTHUMT00000078289.1		0	37	0	G			22563091	-1			no_errors	ENST00000419308	ensembl	human	known	74_37	silent	17.65	28	6	SNP	1.000	A	A	22563091	G	A	22563091	2	1	62	1	0	0	0	0	0	0	0	1	6012	1079	38	1		1	FOXA2	20	22563091	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		22563091	40462429	124	17592											
MAPRE1	22919	genome.wustl.edu	37	chr20	31434572	31434572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagacattctgtatgccaCagatgtatgtgtttgacatg	10	15	10	6	0	1	3	0	1	1	2	1	3	1	3	1	0	1	4	1	0	3	5			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr20:31434572C>T	ENST00000375571.5	+	6	885	c.746C>T	c.(745-747)aCa>aTa	p.T249I	RP5-1085F17.4_ENST00000565572.1_RNA	NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	249	DCTN1-binding.|EB1 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00576}.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						CTGTATGCCACAGATGTATGT	0.413																																																	0													166	158	161					20																	31434572		2203	4300	6503	SO:0001583	missense	0			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.746C>T	20.37:g.31434572C>T	ENSP00000364721:p.Thr249Ile		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain	p.T249I	ENST00000375571.5	37	c.746	CCDS13208.1	20	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874618	0.91664	.	.	ENSG00000101367	ENST00000375571	T	0.55588	0.51	4.87	4.87	0.63330	EB1, C-terminal (1);	0.046492	0.85682	N	0.000000	T	0.79885	0.4523	H	0.96111	3.77	0.80722	D	1	D	0.64830	0.994	P	0.61658	0.892	D	0.86627	0.1883	10	0.87932	D	0	-8.1966	17.5349	0.87827	0.0:1.0:0.0:0.0	.	249	Q15691	MARE1_HUMAN	I	249	ENSP00000364721:T249I	ENSP00000364721:T249I	T	+	2	0	MAPRE1	30898233	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.692000	0.91855	0.655000	0.94253	ACA	MAPRE1	-	superfamily_EB1_C	ENSG00000101367		0.413	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE1	HGNC	protein_coding	OTTHUMT00000078647.2	-	0	127	0	C	NM_012325		31434572	1	tier1	-	no_errors	ENST00000375571	ensembl	human	known	74_37	missense	20.27	118	30	SNP	1.000	T	T	31434572	C	T	31434572	3	4	62	1	0	0	0	0	1	0	0	0	9332	478	17	3	764	3	MAPRE1	20	31434572	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	8871481	31434572	31590948	125	17593											
KRTAP13-1	140258	genome.wustl.edu	37	chr21	31768834	31768834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttccctgggctatggcGttggattctgccgcccaacc	4	11	10	16	2	1	0	0	0	1	0	3	1	3	1	5	3	2	2	5	3	2	4	rs374257240		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr21:31768834G>A	ENST00000355459.2	+	1	443	c.430G>A	c.(430-432)Gtt>Att	p.V144I		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	144						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCTATGGCGTTGGATTCTG	0.542																																																	0								G	ILE/VAL	0,4406		0,0,2203	61	57	59		430	1.8	0	21		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRTAP13-1	NM_181599.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	144/173	31768834	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"Keratin associated proteins"	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.430G>A	21.37:g.31768834G>A	ENSP00000347635:p.Val144Ile		Q14D20|Q3LI79	Missense_Mutation	SNP	pfam_KRTAP_PMG	p.V144I	ENST00000355459.2	37	c.430	CCDS13590.2	21	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685832	0.29962	0.0	1.16E-4	ENSG00000198390	ENST00000355459	T	0.03035	4.07	4.41	1.76	0.24704	.	0.557606	0.14727	N	0.301981	T	0.02848	0.0085	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.41324	-0.9515	10	0.66056	D	0.02	.	5.945	0.19213	0.0:0.0984:0.1624:0.7392	.	144	Q8IUC0	KR131_HUMAN	I	144	ENSP00000347635:V144I	ENSP00000347635:V144I	V	+	1	0	KRTAP13-1	30690705	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.068000	0.14531	0.372000	0.24591	-0.272000	0.10252	GTT	KRTAP13-1	-	pfam_KRTAP_PMG	ENSG00000198390		0.542	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-1	HGNC	protein_coding	OTTHUMT00000128252.3	-	0	112	0	G			31768834	1	tier1	-	no_errors	ENST00000355459	ensembl	human	known	74_37	missense	14.56	88	15	SNP	0.001	A	A	31768834	G	A	31768834	3	1	62	1	0	0	0	0	1	0	0	0	8549	1145	40	1	432	1	KRTAP13-1	21	31768834	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		31768834	16361061	126	17594											
PRDM15	63977	genome.wustl.edu	37	chr21	43221756	43221756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtggtaaggtgccccaCggccaccggctggagattgg	7	6	18	10	2	0	1	0	0	0	1	0	2	0	1	4	8	1	2	4	8	1	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr21:43221756C>T	ENST00000269844.3	-	31	4278	c.4168G>A	c.(4168-4170)Gtg>Atg	p.V1390M	PRDM15_ENST00000447207.2_Missense_Mutation_p.V1024M|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.V1061M|PRDM15_ENST00000422911.1_Missense_Mutation_p.V1081M|PRDM15_ENST00000538201.1_Missense_Mutation_p.V1044M	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGGTGCCCCACGGCCACCGGC	0.587																																																	0													45	45	45					21																	43221756		2203	4300	6503	SO:0001583	missense	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4168G>A	21.37:g.43221756C>T	ENSP00000269844:p.Val1390Met		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.V1390M	ENST00000269844.3	37	c.4168	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	21.4	4.139342	0.77775	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	4.41	4.41	0.53225	.	.	.	.	.	T	0.43433	0.1247	L	0.27053	0.805	0.51482	D	0.999922	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.85130	0.997;0.992;0.828	T	0.48502	-0.9030	9	0.87932	D	0	-22.5769	16.0101	0.80396	0.0:1.0:0.0:0.0	.	1390;1081;1061	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	M	1081;1061;1044;1024;1390	ENSP00000408592:V1081M;ENSP00000381556:V1061M;ENSP00000444044:V1044M;ENSP00000390245:V1024M;ENSP00000269844:V1390M	ENSP00000269844:V1390M	V	-	1	0	PRDM15	42094825	1.000000	0.71417	0.868000	0.34077	0.653000	0.38743	5.448000	0.66612	2.003000	0.58678	0.509000	0.49947	GTG	PRDM15	-	NULL	ENSG00000141956		0.587	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0	61	0	C	NM_022115		43221756	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	T	T	43221756	C	T	43221756	3	4	62	1	0	0	0	0	1	0	0	0	12498	536	19	1	359	1	PRDM15	21	43221756	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	11452922	43221756	4908139	127	17595											
RTN4R	65078	genome.wustl.edu	37	chr22	20229382	20229382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagacggcagtggctgcggGtgcggttcttgcgtgaacag	6	8	17	10	4	1	2	0	1	1	1	1	2	1	2	1	4	4	3	1	4	1	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr22:20229382G>A	ENST00000043402.7	-	2	1712	c.1274C>T	c.(1273-1275)aCc>aTc	p.T425I	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	425					axonogenesis (GO:0007409)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTGGCTGCGGGTGCGGTTCTT	0.721																																																	0													10	11	11					22																	20229382		2168	4260	6428	SO:0001583	missense	0			AF283463	CCDS13777.1	22q11	2008-05-02			ENSG00000040608	ENSG00000040608			18601	protein-coding gene	gene with protein product		605566				11201742	Standard	NM_023004		Approved	NOGOR	uc002zrv.3	Q9BZR6	OTTHUMG00000150572	ENST00000043402.7:c.1274C>T	22.37:g.20229382G>A	ENSP00000043402:p.Thr425Ile		D3DX28	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T425I	ENST00000043402.7	37	c.1274	CCDS13777.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.309|8.309	0.821722|0.821722	0.16678|0.16678	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.61742	.|0.08	3.35|3.35	3.35|3.35	0.38373|0.38373	.|.	.|.	.|.	.|.	.|.	T|T	0.39708|0.39708	0.1088|0.1088	L|L	0.29908|0.29908	0.895|0.895	0.32325|0.32325	N|N	0.561805|0.561805	.|B	.|0.31125	.|0.309	.|B	.|0.26969	.|0.075	T|T	0.42649|0.42649	-0.9439|-0.9439	5|9	.|0.13470	.|T	.|0.59	.|.	10.3645|10.3645	0.44015|0.44015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|425	.|Q9BZR6	.|RTN4R_HUMAN	S|I	445;511|425	.|ENSP00000043402:T425I	.|ENSP00000043402:T425I	P|T	-|-	1|2	0|0	RTN4R|RTN4R	18609382|18609382	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.762000|0.762000	0.43233|0.43233	3.671000|3.671000	0.54576|0.54576	1.880000|1.880000	0.54463|0.54463	0.305000|0.305000	0.20034|0.20034	CCC|ACC	RTN4R	-	NULL	ENSG00000040608		0.721	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4R	HGNC	protein_coding	OTTHUMT00000318950.2	-	0	24	0	G			20229382	-1	tier1	-	no_errors	ENST00000043402	ensembl	human	known	74_37	missense	38.46	8	5	SNP	0.984	A	A	20229382	G	A	20229382	3	1	62	1	0	0	0	0	1	0	0	0	13775	1261	44	3	151	3	RTN4R	22	20229382	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		20229382	31075184	128	17596											
MYH9	4627	genome.wustl.edu	37	chr22	36685336	36685336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatggtcttctcctccGccaggagctgggaaagaggt	9	8	14	10	1	2	2	0	0	2	2	4	5	3	4	3	4	1	1	3	4	1	1			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr22:36685336G>A	ENST00000216181.5	-	32	4582	c.4352C>T	c.(4351-4353)gCg>gTg	p.A1451V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1451					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTTCTCCTCCGCCAGGAGCTG	0.677			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													18	17	18					22																	36685336		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4352C>T	22.37:g.36685336G>A	ENSP00000216181:p.Ala1451Val		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1451V	ENST00000216181.5	37	c.4352	CCDS13927.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.756095|4.756095	0.89843|0.89843	.|.	.|.	ENSG00000100345|ENSG00000100345	ENST00000337818;ENST00000216181|ENST00000397231	T|.	0.79653|.	-1.29|.	5.02|5.02	5.02|5.02	0.67125|0.67125	Myosin tail (1);|.	0.055266|.	0.64402|.	D|.	0.000001|.	T|T	0.76807|0.76807	0.4039|0.4039	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	D|.	0.57257|.	0.979|.	P|.	0.55055|.	0.767|.	T|T	0.80372|0.80372	-0.1410|-0.1410	10|6	0.66056|0.87932	D|D	0.02|0	.|.	14.3358|14.3358	0.66589|0.66589	0.0:0.1483:0.8517:0.0|0.0:0.1483:0.8517:0.0	.|.	1451|.	P35579|.	MYH9_HUMAN|.	V|W	873;1451|54	ENSP00000216181:A1451V|.	ENSP00000216181:A1451V|ENSP00000380408:R54W	A|R	-|-	2|1	0|2	MYH9|MYH9	35015282|35015282	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.882000|0.882000	0.50991|0.50991	7.824000|7.824000	0.86668|0.86668	2.495000|2.495000	0.84180|0.84180	0.491000|0.491000	0.48974|0.48974	GCG|CGG	MYH9	-	pfam_Myosin_tail	ENSG00000100345		0.677	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	0	54	0	G	NM_002473		36685336	-1	tier1	-	no_errors	ENST00000216181	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.999	A	A	36685336	G	A	36685336	3	1	62	1	0	0	0	0	1	0	0	0	10080	1087	38	1	1570	1	MYH9	22	36685336	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	16455954	36685336	14619230	129	17597											
RIBC2	26150	genome.wustl.edu	37	chr22	45821833	45821833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcacctgcttaggccatCgagtcagtggaaaggaaaaa	13	9	10	9	1	3	0	2	0	1	0	4	3	3	2	2	3	1	1	2	3	4	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chr22:45821833C>T	ENST00000342894.3	+	5	876	c.462C>T	c.(460-462)atC>atT	p.I154I	RIBC2_ENST00000538017.1_Silent_p.I222I|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	154						nucleus (GO:0005634)		p.I154I(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTTAGGCCATCGAGTCAGTGG	0.552																																																	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)											106	94	98					22																	45821833		2203	4299	6502	SO:0001819	synonymous_variant	0			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.462C>T	22.37:g.45821833C>T			Q6ICD0|Q9Y413	Silent	SNP	pfam_RIB43A	p.I222	ENST00000342894.3	37	c.666		22																																																																																			RIBC2	-	pfam_RIB43A	ENSG00000128408		0.552	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	HGNC	protein_coding	OTTHUMT00000322250.1	-	0	33	0	C	NM_015653		45821833	1	tier1	-	no_errors	ENST00000538017	ensembl	human	known	74_37	silent	26.67	22	8	SNP	0.000	T	T	45821833	C	T	45821833	2	4	62	1	0	0	0	0	0	0	0	1	13398	874	31	1		1	RIBC2	22	45821833	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	9136497	45821833	5482733	130	17598											
SHROOM2	357	genome.wustl.edu	37	chrX	9900611	9900611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcaggcccttcccaacGccatcccctgcgtccctgga	5	7	9	20	3	0	0	0	0	0	0	4	1	3	1	6	3	2	1	6	3	1	1	rs374276560		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chrX:9900611G>A	ENST00000380913.3	+	6	3378	c.3288G>A	c.(3286-3288)acG>acA	p.T1096T	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1096					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCTTCCCAACGCCATCCCCTG	0.697																																																	0								G		0,3835		0,0,1632,571	42	38	39		3288	-6.9	0	X		39	1,6727		0,1,2427,1872	no	coding-synonymous	SHROOM2	NM_001649.2		0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095		1096/1617	9900611	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3288G>A	X.37:g.9900611G>A			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T1096	ENST00000380913.3	37	c.3288	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.697	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	41	0	G	NM_001649		9900611	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	silent	51.02	24	25	SNP	0.000	A	A	9900611	G	A	9900611	2	1	62	1	0	0	0	0	0	0	0	1	14339	1074	38	1		1	SHROOM2	23	9900611	Silent	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09		9900611	145369949	131	17599											
MBTPS2	51360	genome.wustl.edu	37	chrX	21861368	21861368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccctttccacataagatgGcaaactgctgttttcaatcg	10	13	6	12	1	1	1	1	0	0	1	4	1	3	1	3	1	2	3	3	1	3	4			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chrX:21861368G>T	ENST00000379484.5	+	2	255	c.156G>T	c.(154-156)tgG>tgT	p.W52C	MBTPS2_ENST00000365779.2_Missense_Mutation_p.W52C|MBTPS2_ENST00000465888.1_3'UTR	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	52					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ACATAAGATGGCAAACTGCTG	0.403																																																	0													199	191	194					X																	21861368		2203	4300	6503	SO:0001583	missense	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.156G>T	X.37:g.21861368G>T	ENSP00000368798:p.Trp52Cys		Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.W52C	ENST00000379484.5	37	c.156	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039106	0.55003	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94758	-3.51;-2.33	5.49	5.49	0.81192	.	0.126318	0.64402	D	0.000016	D	0.93989	0.8075	M	0.77103	2.36	0.80722	D	1	B;B;B	0.33549	0.417;0.417;0.251	B;B;B	0.31442	0.13;0.13;0.055	D	0.93084	0.6494	10	0.37606	T	0.19	-3.5813	18.4734	0.90782	0.0:0.0:1.0:0.0	.	52;52;52	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	C	52	ENSP00000368798:W52C;ENSP00000368796:W52C	ENSP00000368796:W52C	W	+	3	0	MBTPS2	21771289	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.655000	0.91098	2.305000	0.77605	0.544000	0.68410	TGG	MBTPS2	-	NULL	ENSG00000012174		0.403	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	-	0	38	0	G			21861368	1	tier1	-	no_errors	ENST00000379484	ensembl	human	known	74_37	missense	42.86	31	24	SNP	1.000	T	T	21861368	G	T	21861368	3	4	62	1	0	0	0	0	1	0	0	0	9400	1212	42	3	162	3	MBTPS2	23	21861368	Missense_Mutation	SNP	G	TCGA-L5-A4OO-01A-11D-A27G-09	11960757	21861368	133409192	132	17600											
PCDH11X	27328	genome.wustl.edu	37	chrX	91873880	91873880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacaaccttcactccaCgccaacaggccagaccgtcc	10	7	6	18	2	1	2	1	1	0	1	3	2	3	2	6	1	2	0	6	1	2	2			TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chrX:91873880C>T	ENST00000373094.1	+	7	4830	c.3985C>T	c.(3985-3987)Cgc>Tgc	p.R1329C	PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1292C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1311C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1319C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1292C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1321C|PCDH11X_ENST00000504220.2_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1329					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTCACTCCACGCCAACAGGC	0.403													C|||	1	0.000264901	0	0	3775	,	,		15247	0		0	False		,,,				2504	0.001				NSCLC(38;925 1092 2571 38200 45895)												0													140	132	135					X																	91873880		2203	4300	6503	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3985C>T	X.37:g.91873880C>T	ENSP00000362186:p.Arg1329Cys		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1329C	ENST00000373094.1	37	c.3985	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	5.673	0.308772	0.10733	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.54479	0.59;0.61;0.61;0.57;0.59;0.61	4.57	2.75	0.32379	.	.	.	.	.	T	0.30665	0.0772	N	0.08118	0	0.09310	N	0.999996	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.20538	-1.0272	9	0.52906	T	0.07	.	7.4117	0.27021	0.0:0.1431:0.3888:0.4681	.	1292;1311;1321;1319;1329	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	C	1329;1319;1292;1311;1321;1329;1292	ENSP00000362186:R1329C;ENSP00000362189:R1319C;ENSP00000362180:R1292C;ENSP00000355105:R1311C;ENSP00000384758:R1321C;ENSP00000298274:R1292C	ENSP00000298274:R1292C	R	+	1	0	PCDH11X	91760536	0.000000	0.05858	0.004000	0.12327	0.071000	0.16799	0.065000	0.14466	0.206000	0.20587	-0.499000	0.04595	CGC	PCDH11X	-	NULL	ENSG00000102290		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	51	0	C	NM_032969		91873880	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.136	T	T	91873880	C	T	91873880	3	4	62	1	0	0	0	0	1	0	0	0	11547	536	19	1	4133	1	PCDH11X	23	91873880	Missense_Mutation	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09	70012512	91873880	63396680	133	17601											
TBL1Y	90665	genome.wustl.edu	37	chrY	6939642	6939642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggttcatatgatggtttCgcaagaatatggacagaaaa	15	11	11	4	1	1	3	1	1	0	2	2	4	1	4	0	3	0	3	0	3	6	4	rs375467650		TCGA-L5-A4OO-01A-11D-A27G-09	TCGA-L5-A4OO-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	5b1ad04c-dea2-4b4e-a5ec-40572126c885	954881bf-dc65-418e-8862-1d327c701757	g.chrY:6939642C>T	ENST00000383032.1	+	11	1421	c.774C>T	c.(772-774)ttC>ttT	p.F258F	TBL1Y_ENST00000355162.2_Silent_p.F258F|TBL1Y_ENST00000346432.3_Silent_p.F258F	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ATGATGGTTTCGCAAGAATAT	0.463																																																	0								C	,,	0,571		0,571	78	69	71		774,774,774	1.1	1	Y		71	1,1871		1,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	TBL1Y	NM_033284.1,NM_134258.1,NM_134259.1	,,	1,2442	T,C		0.0534,0.0,0.0409	,,	258/523,258/523,258/523	6939642	1,2442	596	1940	2536	SO:0001819	synonymous_variant	0			AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"WD repeat domain containing"	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.774C>T	Y.37:g.6939642C>T			A1L4B3	Silent	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F258	ENST00000383032.1	37	c.774	CCDS14779.1	Y																																																																																			TBL1Y	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000092377		0.463	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1Y	HGNC	protein_coding	OTTHUMT00000085360.1	-	0	96	0	C	NM_033284		6939642	1	tier1	-	no_errors	ENST00000346432	ensembl	human	known	74_37	silent	38.61	62	39	SNP	1.000	T	T	6939642	C	T	6939642	2	4	62	1	0	0	0	0	0	0	0	1	15688	883	31	1		1	TBL1Y	24	6939642	Silent	SNP	C	TCGA-L5-A4OO-01A-11D-A27G-09		6939642	52433924	134	17602											
CHD5	26038	genome.wustl.edu	37	chr1	6206332	6206332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgccatagcggtagaagCgctcctccatcttggcatag	9	10	11	11	2	1	2	0	1	1	1	3	2	3	2	3	2	3	3	3	2	4	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:6206332C>T	ENST00000262450.3	-	11	1841	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R581L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCGGTAGAAGCGCTCCTCCAT	0.587																																																	1	Substitution - Missense(1)	lung(1)											156	155	156					1																	6206332		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1742G>A	1.37:g.6206332C>T	ENSP00000262450:p.Arg581His		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R581H	ENST00000262450.3	37	c.1742	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972685	0.74246	.	.	ENSG00000116254	ENST00000262450;ENST00000378006	T	0.72615	-0.67	3.85	3.85	0.44370	Chromo domain-like (1);	0.000000	0.64402	D	0.000001	T	0.65595	0.2706	M	0.71206	2.165	0.80722	D	1	P	0.50943	0.94	B	0.39258	0.295	T	0.72629	-0.4235	10	0.87932	D	0	-21.6119	10.0814	0.42393	0.0:0.9061:0.0:0.0939	.	581	Q8TDI0	CHD5_HUMAN	H	581;97	ENSP00000262450:R581H	ENSP00000262450:R581H	R	-	2	0	CHD5	6128919	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.974000	0.40559	2.138000	0.66242	0.462000	0.41574	CGC	CHD5	-	superfamily_Chromodomain-like	ENSG00000116254		0.587	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2		0	59	0	C	NM_015557		6206332	-1			no_errors	ENST00000262450	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	6206332	C	T	6206332	3	4	63	1	0	0	0	0	1	0	0	0	3335	768	27	1	4246	1	CHD5	1	6206332	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		6206332	243044289	1	17603											
AKR7A3	22977	genome.wustl.edu	37	chr1	19612452	19612452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcggccacttcccaggctGcatagttggagaggccaagc	8	8	12	13	1	1	1	0	0	1	1	3	2	2	1	3	4	2	3	3	4	2	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:19612452G>A	ENST00000361640.4	-	3	977	c.437C>T	c.(436-438)gCa>gTa	p.A146V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	146					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCAGGCTGCATAGTTGGA	0.612																																																	0													70	65	67					1																	19612452		2199	4300	6499	SO:0001583	missense	0			AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"Aldo-keto reductases"	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.437C>T	1.37:g.19612452G>A	ENSP00000355377:p.Ala146Val		Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.A146V	ENST00000361640.4	37	c.437	CCDS193.1	1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.561161	0.27915	.	.	ENSG00000162482	ENST00000361640	T	0.25414	1.8	3.04	3.04	0.35103	NADP-dependent oxidoreductase domain (3);	0.162599	0.53938	D	0.000047	T	0.30665	0.0772	M	0.84082	2.675	0.43777	D	0.996309	P	0.38992	0.653	B	0.35353	0.201	T	0.37220	-0.9715	10	0.56958	D	0.05	.	11.5907	0.50943	0.0:0.0:1.0:0.0	.	146	O95154	ARK73_HUMAN	V	146	ENSP00000355377:A146V	ENSP00000355377:A146V	A	-	2	0	AKR7A3	19485039	1.000000	0.71417	0.675000	0.29917	0.128000	0.20619	4.144000	0.58057	1.542000	0.49330	0.194000	0.17425	GCA	AKR7A3	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000162482		0.612	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A3	HGNC	protein_coding	OTTHUMT00000007166.1		0	76	0	G	NM_012067		19612452	-1			no_errors	ENST00000361640	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.986	A	A	19612452	G	A	19612452	3	1	63	1	0	0	0	0	1	0	0	0	476	1319	46	3	578	3	AKR7A3	1	19612452	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	13406120	19612452	229638169	2	17604											
FPGT	8790	genome.wustl.edu	37	chr1	74670700	74670700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagaaacacatcaaatgtCattaaagaagagtcagagtt	19	8	7	7	0	3	4	3	0	0	4	3	4	3	4	1	0	1	1	1	0	5	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:74670700C>T	ENST00000609362.1	+	4	1006	c.969C>T	c.(967-969)gtC>gtT	p.V323V	FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370898.3_Silent_p.V336V|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	323					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CATCAAATGTCATTAAAGAAG	0.383																																																	0													70	71	71					1																	74670700		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.969C>T	1.37:g.74670700C>T			A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.V336	ENST00000609362.1	37	c.1008	CCDS663.1	1																																																																																			FPGT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.383	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		-	0	10	0	C			74670700	1	tier1	-	no_errors	ENST00000370898	ensembl	human	known	74_37	silent	68.75	5	11	SNP	1.000	T	T	74670700	C	T	74670700	2	4	63	1	0	0	0	0	0	0	0	1	6061	813	29	3		3	FPGT	1	74670700	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	55058248	74670700	174579921	3	17605											
DNTTIP2	30836	genome.wustl.edu	37	chr1	94343392	94343392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtactactttctggatgCgcttgaatcccattagcagc	9	12	8	12	1	1	1	0	1	1	0	2	2	2	2	2	1	5	3	2	1	4	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:94343392C>T	ENST00000436063.2	-	2	156	c.99G>A	c.(97-99)gcG>gcA	p.A33A	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TTTCTGGATGCGCTTGAATCC	0.443																																																	0													40	37	38					1																	94343392		1873	4118	5991	SO:0001819	synonymous_variant	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.99G>A	1.37:g.94343392C>T			Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Silent	SNP	pfam_Fcf2	p.A33	ENST00000436063.2	37	c.99	CCDS44174.1	1																																																																																			DNTTIP2	-	NULL	ENSG00000067334		0.443	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2		0	24	0	C	NM_014597		94343392	-1			no_errors	ENST00000436063	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.004	T	T	94343392	C	T	94343392	2	4	63	1	0	0	0	0	0	0	0	1	4696	755	27	1		1	DNTTIP2	1	94343392	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	19672692	94343392	154907229	4	17606											
RPRD2	23248	genome.wustl.edu	37	chr1	150444985	150444985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcgttccaacagtttcaaCtcaacatttgagcatcatct	11	15	4	11	1	4	1	3	1	1	0	6	1	5	1	1	0	4	3	1	0	3	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:150444985C>G	ENST00000369068.4	+	11	3565	c.3561C>G	c.(3559-3561)aaC>aaG	p.N1187K	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.N1161K	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1187						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACAGTTTCAACTCAACATTTG	0.552																																																	0													116	113	114					1																	150444985		2034	4172	6206	SO:0001583	missense	0			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"KIAA0460"	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3561C>G	1.37:g.150444985C>G	ENSP00000358064:p.Asn1187Lys		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom	p.N1187K	ENST00000369068.4	37	c.3561	CCDS44216.1	1	.	.	.	.	.	.	.	.	.	.	C	7.659	0.684569	0.14973	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.44881	0.91;0.91	4.59	3.67	0.42095	.	0.273790	0.35262	N	0.003337	T	0.13415	0.0325	N	0.19112	0.55	0.80722	D	1	B;B	0.32160	0.244;0.358	B;B	0.25140	0.026;0.058	T	0.05835	-1.0861	10	0.87932	D	0	-12.6487	11.8023	0.52135	0.0:0.8434:0.0:0.1566	.	1187;1161	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	K	1161;1187	ENSP00000383785:N1161K;ENSP00000358064:N1187K	ENSP00000358064:N1187K	N	+	3	2	RPRD2	148711609	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.477000	0.45180	0.555000	0.29079	-1.119000	0.02030	AAC	RPRD2	-	NULL	ENSG00000163125		0.552	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPRD2	HGNC	protein_coding	OTTHUMT00000035844.1	-	0	33	0	C	NM_015203		150444985	1	tier1	-	no_errors	ENST00000369068	ensembl	human	known	74_37	missense	55.10	22	27	SNP	1.000	G	G	150444985	C	G	150444985	3	3	63	1	0	0	0	0	1	0	0	0	13662	564	20	5	3603	5	RPRD2	1	150444985	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	56101593	150444985	98805636	5	17607											
TDRD10	126668	genome.wustl.edu	37	chr1	154515285	154515285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccttctttgcagtccCgttggaaatgaggtgagcaa	9	10	13	9	1	1	2	0	2	1	0	2	3	2	3	2	3	3	4	2	3	2	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:154515285C>T	ENST00000368480.3	+	8	576	c.491C>T	c.(490-492)cCg>cTg	p.P164L	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.P164L			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	164							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P164Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGCAGTCCCGTTGGAAATG	0.498																																																	1	Substitution - Missense(1)	lung(1)											90	80	83					1																	154515285		2203	4300	6503	SO:0001583	missense	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.491C>T	1.37:g.154515285C>T	ENSP00000357465:p.Pro164Leu		A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P164L	ENST00000368480.3	37	c.491	CCDS41406.1	1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580446	0.46006	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.50548	0.81;0.74	3.64	2.7	0.31948	.	0.000000	0.35436	U	0.003201	T	0.17959	0.0431	L	0.32530	0.975	0.26864	N	0.967891	D;D	0.60575	0.988;0.969	B;B	0.42138	0.303;0.377	T	0.04796	-1.0926	10	0.87932	D	0	-9.1285	7.2352	0.26066	0.0:0.8721:0.0:0.1279	.	164;164	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	L	164	ENSP00000357467:P164L;ENSP00000357465:P164L	ENSP00000357465:P164L	P	+	2	0	TDRD10	152781909	0.032000	0.19561	0.067000	0.19924	0.744000	0.42396	0.677000	0.25262	0.724000	0.32296	0.449000	0.29647	CCG	TDRD10	-	NULL	ENSG00000163239		0.498	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	-	0	64	0	C	NM_182499		154515285	1	tier1	-	no_errors	ENST00000368480	ensembl	human	known	74_37	missense	22.54	54	16	SNP	0.617	T	T	154515285	C	T	154515285	3	4	63	1	0	0	0	0	1	0	0	0	15778	652	23	1	517	1	TDRD10	1	154515285	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	4070300	154515285	94735336	6	17608											
SLAMF1	6504	genome.wustl.edu	37	chr1	160589583	160589583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacacctggtttctggacttGggcatagatcgtaaggcttt	8	14	11	8	1	1	1	0	0	1	1	2	2	1	2	1	4	1	4	1	4	3	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:160589583G>C	ENST00000302035.6	-	5	1196	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Missense_Mutation_p.Q253E|SLAMF1_ENST00000355199.3_Missense_Mutation_p.Q283E	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	283					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTGGACTTGGGCATAGATC	0.428																																																	0													257	256	256					1																	160589583		2203	4300	6503	SO:0001583	missense	0			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.847C>G	1.37:g.160589583G>C	ENSP00000306190:p.Gln283Glu		Q5W172|Q9HBE8	Missense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom	p.Q283E	ENST00000302035.6	37	c.847	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288861	0.59976	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000355199	T;T;T	0.54479	0.57;0.57;0.57	4.19	4.19	0.49359	.	0.464973	0.20330	N	0.094442	T	0.67249	0.2873	M	0.82630	2.6	0.40901	D	0.984155	D	0.71674	0.998	D	0.77004	0.989	T	0.70368	-0.4891	10	0.62326	D	0.03	-14.9932	12.3258	0.55009	0.0:0.0:1.0:0.0	.	283	Q13291	SLAF1_HUMAN	E	283;253;283	ENSP00000306190:Q283E;ENSP00000235739:Q253E;ENSP00000347333:Q283E	ENSP00000235739:Q253E	Q	-	1	0	SLAMF1	158856207	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.802000	0.55553	2.632000	0.89209	0.563000	0.77884	CAA	SLAMF1	-	NULL	ENSG00000117090		0.428	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1	-	0	134	0	G			160589583	-1	tier1	-	no_errors	ENST00000302035	ensembl	human	known	74_37	missense	52.42	59	65	SNP	1.000	C	C	160589583	G	C	160589583	3	2	63	1	0	0	0	0	1	0	0	0	14412	1357	47	5	172	5	SLAMF1	1	160589583	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	6074298	160589583	88661038	7	17609											
SELE	6401	genome.wustl.edu	37	chr1	169702094	169702094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcataagtcatagcttccGtggaggtgttgtaagaccag	11	11	11	8	1	2	1	2	0	0	1	3	2	3	2	2	2	1	3	2	2	3	5	rs139816972		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:169702094G>A	ENST00000333360.7	-	3	222	c.83C>T	c.(82-84)aCg>aTg	p.T28M	SELE_ENST00000367779.4_Missense_Mutation_p.T28M|SELE_ENST00000367776.1_Missense_Mutation_p.T28M|SELE_ENST00000367774.1_Missense_Mutation_p.T28M|SELE_ENST00000367780.4_Missense_Mutation_p.T28M|SELE_ENST00000367782.4_Missense_Mutation_p.T28M|SELE_ENST00000367775.1_Missense_Mutation_p.T28M|SELE_ENST00000367781.4_Missense_Mutation_p.T28M|SELE_ENST00000367777.1_Missense_Mutation_p.T28M|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	28	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	CATAGCTTCCGTGGAGGTGTT	0.418																																																	0								G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	111	104	106		83	-0.7	0	1	dbSNP_134	106	0,8600		0,0,4300	no	missense	SELE	NM_000450.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	28/611	169702094	2,13004	2203	4300	6503	SO:0001583	missense	0			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.83C>T	1.37:g.169702094G>A	ENSP00000331736:p.Thr28Met		A2RRD6|P16111	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.T28M	ENST00000333360.7	37	c.83	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701793	0.48307	4.54E-4	0.0	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.58	-0.729	0.11158	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	1.088120	0.07192	N	0.855886	T	0.13372	0.0324	M	0.90650	3.135	0.09310	N	1	P	0.41597	0.756	B	0.31495	0.131	T	0.32613	-0.9900	10	0.66056	D	0.02	0.1088	4.3337	0.11076	0.0804:0.2951:0.4272:0.1973	.	28	P16581	LYAM2_HUMAN	M	28	ENSP00000356755:T28M;ENSP00000356756:T28M;ENSP00000356754:T28M;ENSP00000356753:T28M;ENSP00000331736:T28M;ENSP00000356751:T28M;ENSP00000356749:T28M;ENSP00000356750:T28M;ENSP00000356748:T28M	ENSP00000331736:T28M	T	-	2	0	SELE	167968718	0.001000	0.12720	0.000000	0.03702	0.516000	0.34256	0.820000	0.27323	-0.002000	0.14469	0.655000	0.94253	ACG	SELE	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000007908		0.418	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1	-	0	28	0	G	NM_000450		169702094	-1	tier1	rs139816972	no_errors	ENST00000333360	ensembl	human	known	74_37	missense	57.69	11	15	SNP	0.000	A	A	169702094	G	A	169702094	3	1	63	1	0	0	0	0	1	0	0	0	14058	1145	40	1	1793	1	SELE	1	169702094	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	9112511	169702094	79548527	8	17610											
HNRNPU	3192	genome.wustl.edu	37	chr1	245018808	245018808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccacggccaggaaaaacaGgggcacgagggtatggatag	14	4	15	8	2	0	0	0	0	0	0	0	3	0	2	2	6	2	2	2	6	5	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr1:245018808G>A	ENST00000283179.9	-	12	2433	c.2270C>T	c.(2269-2271)cCt>cTt	p.P757L	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.P738L|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	757	Gly-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AGGAAAAACAGGGGCACGAGG	0.532																																					NSCLC(33;911 1010 3329 23631 49995)												0													143	140	141					1																	245018808		2203	4300	6503	SO:0001583	missense	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2270C>T	1.37:g.245018808G>A	ENSP00000283179:p.Pro757Leu		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.P757L	ENST00000283179.9	37	c.2270	CCDS41479.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520159	0.85495	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.44482	0.93;0.92	5.51	5.51	0.81932	.	0.105700	0.64402	D	0.000004	T	0.54127	0.1839	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.994	D;D;D	0.78314	0.991;0.981;0.981	T	0.48091	-0.9065	9	.	.	.	-7.5921	19.4189	0.94712	0.0:0.0:1.0:0.0	.	738;757;481	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	L	738;757;682	ENSP00000393151:P738L;ENSP00000283179:P757L	.	P	-	2	0	HNRNPU	243085431	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.133000	0.57983	2.584000	0.87258	0.591000	0.81541	CCT	HNRNPU	-	NULL	ENSG00000153187		0.532	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	-	0	93	0	G	NM_031844		245018808	-1	tier1	-	no_errors	ENST00000283179	ensembl	human	known	74_37	missense	25.93	79	28	SNP	1.000	A	A	245018808	G	A	245018808	3	1	63	1	0	0	0	0	1	0	0	0	7300	1000	35	3	219	3	HNRNPU	1	245018808	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	75316714	245018808	4231813	9	17611											
AGBL5	60509	genome.wustl.edu	37	chr2	27291605	27291605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgccctgcatcaagactcGattgcaggtaatatttttgg	10	13	10	8	1	1	1	1	0	0	1	2	3	1	1	1	2	3	3	1	2	3	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:27291605G>A	ENST00000360131.4	+	13	2507	c.2348G>A	c.(2347-2349)cGa>cAa	p.R783Q		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	783					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAAGACTCGATTGCAGGTA	0.527																																																	0													72	79	77					2																	27291605		2203	4300	6503	SO:0001583	missense	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2348G>A	2.37:g.27291605G>A	ENSP00000353249:p.Arg783Gln		A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.R783Q	ENST00000360131.4	37	c.2348	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737037	0.49045	.	.	ENSG00000084693	ENST00000360131	T	0.17528	2.27	5.57	3.77	0.43336	.	0.437673	0.23007	N	0.053004	T	0.09291	0.0229	N	0.12746	0.255	0.24179	N	0.995595	B	0.11235	0.004	B	0.08055	0.003	T	0.19386	-1.0307	10	0.56958	D	0.05	-2.688	7.7157	0.28702	0.1858:0.0:0.8142:0.0	.	783	Q8NDL9	CBPC5_HUMAN	Q	783	ENSP00000353249:R783Q	ENSP00000353249:R783Q	R	+	2	0	AGBL5	27145109	0.986000	0.35501	0.943000	0.38184	0.981000	0.71138	2.124000	0.42006	1.364000	0.46038	0.555000	0.69702	CGA	AGBL5	-	NULL	ENSG00000084693		0.527	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	-	0	71	0	G	NM_021831		27291605	1	tier1	-	no_errors	ENST00000360131	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.973	A	A	27291605	G	A	27291605	3	1	63	1	0	0	0	0	1	0	0	0	378	1058	37	1	2459	1	AGBL5	2	27291605	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		27291605	215907768	10	17612											
NRXN1	9378	genome.wustl.edu	37	chr2	50733692	50733692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttccacgccgaactacaCgcactgtgtgccactcgtta	8	12	7	14	4	0	0	0	0	0	0	2	1	1	0	3	0	3	2	3	0	3	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:50733692C>T	ENST00000406316.2	-	13	3914	c.2438G>A	c.(2437-2439)cGt>cAt	p.R813H	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.R805H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R813H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R805H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R813H|NRXN1_ENST00000404971.1_Missense_Mutation_p.R853H	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	813	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGAACTACACGCACTGTGTG	0.453																																																	0													128	127	128					2																	50733692		1928	4138	6066	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2438G>A	2.37:g.50733692C>T	ENSP00000384311:p.Arg813His		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R805H	ENST00000406316.2	37	c.2414	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	30	5.050256	0.93740	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	M	0.69523	2.12	0.47214	D	0.999359	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.975;0.999;0.973	D	0.87551	0.2465	10	0.52906	T	0.07	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	853;813;805	Q9ULB1-3;F8WB18;A7E294	.;.;.	H	853;813;805;813;854;805;813	ENSP00000385142:R853H;ENSP00000384311:R813H;ENSP00000434015:R805H;ENSP00000385017:R813H;ENSP00000385434:R805H;ENSP00000385681:R813H	ENSP00000385017:R813H	R	-	2	0	NRXN1	50587196	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.089000	0.71384	2.695000	0.91970	0.561000	0.74099	CGT	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.453	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2		0	51	0	C			50733692	-1			no_errors	ENST00000402717	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	50733692	C	T	50733692	3	4	63	1	0	0	0	0	1	0	0	0	10704	536	19	1	2392	1	NRXN1	2	50733692	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	23442087	50733692	192465681	11	17613											
ADD2	119	genome.wustl.edu	37	chr2	70906066	70906066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctcttgaacaaaggggtGgcgatacgtgtaacctgttc	9	13	11	8	2	1	1	0	1	1	0	3	2	1	1	1	3	3	2	1	3	4	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:70906066G>A	ENST00000264436.4	-	11	1597	c.1153C>T	c.(1153-1155)Cac>Tac	p.H385Y	ADD2_ENST00000355733.3_Missense_Mutation_p.H385Y|ADD2_ENST00000430656.1_Missense_Mutation_p.H401Y|ADD2_ENST00000407644.2_Missense_Mutation_p.H385Y|ADD2_ENST00000413157.2_Missense_Mutation_p.H385Y	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	385					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACAAAGGGGTGGCGATACGTG	0.502																																																	0													153	145	148					2																	70906066		2203	4300	6503	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1153C>T	2.37:g.70906066G>A	ENSP00000264436:p.His385Tyr		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.H385Y	ENST00000264436.4	37	c.1153	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	G	9.348	1.064768	0.20067	.	.	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.23	2.0	0.26442	.	0.292681	0.38548	N	0.001654	T	0.10252	0.0251	L	0.38175	1.15	0.31906	N	0.615314	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.32214	-0.9915	10	0.06625	T	0.88	-9.364	8.4215	0.32703	0.2851:0.0:0.7149:0.0	.	401;385;385;385	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	Y	385;385;385;385;385;401	ENSP00000264436:H385Y;ENSP00000384677:H385Y;ENSP00000347972:H385Y;ENSP00000388072:H385Y;ENSP00000398112:H401Y	ENSP00000264436:H385Y	H	-	1	0	ADD2	70759574	0.983000	0.35010	0.998000	0.56505	0.928000	0.56348	1.960000	0.40422	0.663000	0.31027	0.655000	0.94253	CAC	ADD2	-	NULL	ENSG00000075340		0.502	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	-	0	29	0	G	NM_001617		70906066	-1	tier1	-	no_errors	ENST00000264436	ensembl	human	known	74_37	missense	40.00	9	6	SNP	0.952	A	A	70906066	G	A	70906066	3	1	63	1	0	0	0	0	1	0	0	0	305	1348	47	3	1228	3	ADD2	2	70906066	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	20172374	70906066	172293307	12	17614											
ALMS1	7840	genome.wustl.edu	37	chr2	73613049	73613049	+	Missense_Mutation	SNP	A	A	C																															gctggaggaggaggaggaggAggaggaggaggaggaggagg																										TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:73613049A>C	ENST00000264448.6	+	1	164	c.53A>C	c.(52-54)gAg>gCg	p.E18A	ALMS1_ENST00000409009.1_Missense_Mutation_p.E18A|ALMS1_ENST00000377715.1_Missense_Mutation_p.E18A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	18	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						gaggaggaggaggaggaggag	0.697																																																	0													6	7	7					2																	73613049		1727	3578	5305	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.53A>C	2.37:g.73613049A>C	ENSP00000264448:p.Glu18Ala		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E18A	ENST00000264448.6	37	c.53	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	A	14.88	2.667063	0.47677	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.19806	2.88;2.99;2.12	3.46	-1.9	0.07665	.	.	.	.	.	T	0.12433	0.0302	N	0.24115	0.695	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.17433	0.018;0.018	T	0.31223	-0.9951	9	0.87932	D	0	.	5.5733	0.17208	0.4421:0.4512:0.1067:0.0	.	18;18	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	A	18	ENSP00000386627:E18A;ENSP00000264448:E18A;ENSP00000366944:E18A	ENSP00000264448:E18A	E	+	2	0	ALMS1	73466557	0.091000	0.21658	0.073000	0.20177	0.380000	0.30137	0.161000	0.16481	-0.357000	0.08175	0.240000	0.17902	GAG	ALMS1	-	NULL	ENSG00000116127		0.697	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1		0	76	0	A	NM_015120		73613049	1			no_errors	ENST00000264448	ensembl	human	known	74_37	missense	13.04	79	12	SNP	0.081	C	C	73613049	A	C	73613049	3	2	63	1	0	0	0	0	1	0	0	0	535	304	11	4	55	4	ALMS1	2	73613049	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	2706983	73613049	169586324	13	17615	71	2									
ALMS1	7840	genome.wustl.edu	37	chr2	73613052	73613052	+	Missense_Mutation	SNP	A	A	C																															ggaggaggaggaggaggaggAggaggaggaggaggaggaag																										TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:73613052A>C	ENST00000264448.6	+	1	167	c.56A>C	c.(55-57)gAg>gCg	p.E19A	ALMS1_ENST00000409009.1_Missense_Mutation_p.E19A|ALMS1_ENST00000377715.1_Missense_Mutation_p.E19A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	19	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						gaggaggaggaggaggaggag	0.701																																																	0													6	8	7					2																	73613052		1752	3632	5384	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.56A>C	2.37:g.73613052A>C	ENSP00000264448:p.Glu19Ala		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E19A	ENST00000264448.6	37	c.56	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	a	11.36	1.614573	0.28712	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16457	3.17;3.22;2.34	3.07	-6.14	0.02111	.	.	.	.	.	T	0.08358	0.0208	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.32052	-0.9921	9	0.87932	D	0	.	3.4956	0.07654	0.17:0.4921:0.0932:0.2447	.	19;19	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	A	19	ENSP00000386627:E19A;ENSP00000264448:E19A;ENSP00000366944:E19A	ENSP00000264448:E19A	E	+	2	0	ALMS1	73466560	0.001000	0.12720	0.000000	0.03702	0.162000	0.22319	-0.558000	0.05978	-2.438000	0.00552	-1.604000	0.00809	GAG	ALMS1	-	NULL	ENSG00000116127		0.701	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	77	0	A	NM_015120		73613052	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	24.18	69	22	SNP	0.000	C	C	73613052	A	C	73613052	3	2	63	1	0	0	0	0	1	0	0	0	535	304	11	4	58	4	ALMS1	2	73613052	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	3	73613052	169586321	14	17616	71	2									
LRRTM4	80059	genome.wustl.edu	37	chr2	76975989	76975989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgggcctggcagtacccGatcacaggctggtcatagct	7	9	14	11	1	2	0	2	0	0	0	2	1	2	0	2	5	2	4	2	5	2	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:76975989G>A	ENST00000409093.1	-	4	1941	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	LRRTM4_ENST00000409911.1_Silent_p.I536I|LRRTM4_ENST00000409884.1_Silent_p.I535I			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	535					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGCAGTACCCGATCACAGGCT	0.537																																																	0													57	57	57					2																	76975989		1568	3582	5150	SO:0001819	synonymous_variant	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1605C>T	2.37:g.76975989G>A			Q4FZ98|Q6UXJ7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I536	ENST00000409093.1	37	c.1608	CCDS46346.1	2																																																																																			LRRTM4	-	NULL	ENSG00000176204		0.537	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	73	0	G	NM_024993		76975989	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	silent	33.33	44	22	SNP	0.011	A	A	76975989	G	A	76975989	2	1	63	1	0	0	0	0	0	0	0	1	9077	1048	37	1		1	LRRTM4	2	76975989	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	3362937	76975989	166223384	15	17617											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746402	77746402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggccagcaaatgcatttCgggacaagcttcgaagacga	14	6	12	9	3	0	2	0	0	0	2	2	5	0	3	1	2	3	3	1	2	3	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:77746402C>T	ENST00000409093.1	-	3	929	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R199Q|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R199Q|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R198Q|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R198Q			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	198					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AAATGCATTTCGGGACAAGCT	0.428																																																	0													64	62	63					2																	77746402		1860	4085	5945	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.593G>A	2.37:g.77746402C>T	ENSP00000386357:p.Arg198Gln		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R199Q	ENST00000409093.1	37	c.596	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249212	0.80024	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.60881	0.2303	N	0.21545	0.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.58836	-0.7566	10	0.34782	T	0.22	.	18.2226	0.89906	0.0:1.0:0.0:0.0	.	199;198;198	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Q	199;198;198;198;199	ENSP00000387228:R199Q;ENSP00000387297:R198Q;ENSP00000386357:R198Q;ENSP00000386236:R198Q;ENSP00000386286:R199Q	ENSP00000386236:R198Q	R	-	2	0	LRRTM4	77599910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.648000	0.89879	0.563000	0.77884	CGA	LRRTM4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.428	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	51	0	C	NM_024993		77746402	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	62.50	12	20	SNP	1.000	T	T	77746402	C	T	77746402	3	4	63	1	0	0	0	0	1	0	0	0	9077	884	31	1	1193	1	LRRTM4	2	77746402	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	770413	77746402	165452971	16	17618											
LRP1B	53353	genome.wustl.edu	37	chr2	141625248	141625248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacattctgccctgtccacTtattggctttggacaatgtg	7	15	9	10	0	1	1	0	1	1	0	2	2	2	2	2	2	1	1	2	2	2	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:141625248T>G	ENST00000389484.3	-	27	5461	c.4490A>C	c.(4489-4491)aAg>aCg	p.K1497T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1497					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.K1497T(1)|p.K1497R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCCTGTCCACTTATTGGCTTT	0.488										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												2	Substitution - Missense(2)	large_intestine(2)											201	177	185					2																	141625248		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4490A>C	2.37:g.141625248T>G	ENSP00000374135:p.Lys1497Thr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K1497T	ENST00000389484.3	37	c.4490	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.190659	0.78789	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91407	-2.84;-2.84	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96497	0.8857	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.97481	1.0047	10	0.72032	D	0.01	.	15.4528	0.75285	0.0:0.0:0.0:1.0	.	680;1497	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	T	1497;1435;642	ENSP00000374135:K1497T;ENSP00000413239:K642T	ENSP00000374135:K1497T	K	-	2	0	LRP1B	141341718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.942000	0.87708	2.060000	0.61445	0.533000	0.62120	AAG	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.488	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	104	0	T	NM_018557		141625248	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	38.10	52	32	SNP	1.000	G	G	141625248	T	G	141625248	3	3	63	1	0	0	0	0	1	0	0	0	8990	1609	56	4	9569	4	LRP1B	2	141625248	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	63878846	141625248	101574125	17	17619											
KIF5C	3800	genome.wustl.edu	37	chr2	149850990	149850990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacatggaacagaagaGgaggcagctagaagagtccc	16	3	14	8	0	0	5	0	0	0	5	1	7	1	7	1	3	3	3	1	3	5	1	rs373791386		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:149850990G>T	ENST00000435030.1	+	17	2329	c.1961G>T	c.(1960-1962)aGg>aTg	p.R654M	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R559M|KIF5C_ENST00000397413.1_Missense_Mutation_p.R422M			O60282	KIF5C_HUMAN	kinesin family member 5C	654					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GAACAGAAGAGGAGGCAGCTA	0.488																																																	0													37	40	39					2																	149850990		1984	4164	6148	SO:0001583	missense	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1961G>T	2.37:g.149850990G>T	ENSP00000393379:p.Arg654Met		O95079|Q2YDC5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R654M	ENST00000435030.1	37	c.1961		2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676419	0.88445	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	T;T;T	0.79141	-1.24;-1.24;-1.24	5.31	5.31	0.75309	.	0.159982	0.56097	D	0.000031	D	0.84311	0.5444	.	.	.	0.41517	D	0.988377	P;D	0.57571	0.881;0.98	P;P	0.55161	0.615;0.77	D	0.83921	0.0301	8	.	.	.	.	19.1802	0.93620	0.0:0.0:1.0:0.0	.	654;220	O60282;Q3LIE3	KIF5C_HUMAN;.	M	654;559;557;422	ENSP00000393379:R654M;ENSP00000410115:R559M;ENSP00000380560:R422M	.	R	+	2	0	KIF5C	149559236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.301000	0.65727	2.748000	0.94277	0.650000	0.86243	AGG	KIF5C	-	NULL	ENSG00000168280		0.488	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3		0	23	0	G	NM_004522		149850990	1			no_errors	ENST00000435030	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	T	T	149850990	G	T	149850990	3	4	63	1	0	0	0	0	1	0	0	0	8334	1000	35	3	1949	3	KIF5C	2	149850990	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	8225742	149850990	93348383	18	17620											
XIRP2	129446	genome.wustl.edu	37	chr2	168107319	168107319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaaaaccctactaagaaCgagctttctcagtcccctaa	15	8	5	13	1	1	2	1	0	1	2	3	3	2	2	3	0	4	1	3	0	6	4	rs556211010		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:168107319C>T	ENST00000409195.1	+	9	9506	c.9417C>T	c.(9415-9417)aaC>aaT	p.N3139N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.N2917N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.N3139N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2964					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTACTAAGAACGAGCTTTCTC	0.448																																																	0													79	76	77					2																	168107319		1866	4089	5955	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9417C>T	2.37:g.168107319C>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.N3139	ENST00000409195.1	37	c.9417	CCDS42769.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.448	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	28	0	C	NM_152381		168107319	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	52.94	8	9	SNP	0.000	T	T	168107319	C	T	168107319	2	4	63	1	0	0	0	0	0	0	0	1	17479	535	19	1		1	XIRP2	2	168107319	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	18256329	168107319	75092054	19	17621											
DHRS9	10170	genome.wustl.edu	37	chr2	169940039	169940039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaggtcgccttgcaatcGttggagggggctatactcca	7	11	14	9	2	0	0	0	0	0	0	3	2	1	2	2	5	2	3	2	5	3	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:169940039G>A	ENST00000327239.4	+	6	2018	c.514G>A	c.(514-516)Gtt>Att	p.V172I	DHRS9_ENST00000412271.1_Missense_Mutation_p.V172I|DHRS9_ENST00000436483.2_Missense_Mutation_p.V172I|DHRS9_ENST00000421653.1_Missense_Mutation_p.V25I|DHRS9_ENST00000357546.2_Missense_Mutation_p.V172I|DHRS9_ENST00000428522.1_Missense_Mutation_p.V172I|DHRS9_ENST00000432060.2_Missense_Mutation_p.V232I|DHRS9_ENST00000602501.1_Missense_Mutation_p.V172I	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	172					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTGCAATCGTTGGAGGGGG	0.408																																																	0													83	77	79					2																	169940039		2203	4300	6503	SO:0001583	missense	0			AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	16888	protein-coding gene	gene with protein product	"NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4"	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.514G>A	2.37:g.169940039G>A	ENSP00000316670:p.Val172Ile		B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.V232I	ENST00000327239.4	37	c.694	CCDS2231.1	2	.	.	.	.	.	.	.	.	.	.	G	6.323	0.427701	0.11987	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.92965	-2.26;-2.26;-2.26;-2.26;-3.14;-2.26;-2.26	5.93	-6.32	0.01995	NAD(P)-binding domain (1);	1.624710	0.02706	N	0.112335	D	0.84170	0.5413	L	0.27053	0.805	0.09310	N	1	B;B	0.17667	0.023;0.003	B;B	0.17722	0.019;0.008	T	0.71842	-0.4470	10	0.22706	T	0.39	.	8.0257	0.30436	0.2174:0.0:0.2542:0.5284	.	232;172	B7Z416;Q9BPW9	.;DHRS9_HUMAN	I	172;172;232;172;25;172;172	ENSP00000316670:V172I;ENSP00000350154:V172I;ENSP00000389241:V232I;ENSP00000388564:V172I;ENSP00000388066:V25I;ENSP00000407167:V172I;ENSP00000407747:V172I	ENSP00000316670:V172I	V	+	1	0	DHRS9	169648285	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-1.797000	0.01749	-0.899000	0.03901	0.655000	0.94253	GTT	DHRS9	-	pfam_DH_sc/Rdtase_SDR	ENSG00000073737		0.408	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS9	HGNC	protein_coding	OTTHUMT00000333612.3	-	0	53	0	G	NM_005771		169940039	1	tier1	-	no_errors	ENST00000432060	ensembl	human	known	74_37	missense	42.86	28	21	SNP	0.000	A	A	169940039	G	A	169940039	3	1	63	1	0	0	0	0	1	0	0	0	4512	1145	40	1	520	1	DHRS9	2	169940039	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	1832720	169940039	73259334	20	17622											
DNAH7	56171	genome.wustl.edu	37	chr2	196741378	196741378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgctgagaagttaattaGcagaggtttgtagatttcct	10	16	11	4	0	0	3	0	1	0	3	1	4	1	3	1	1	2	5	1	1	4	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:196741378G>T	ENST00000312428.6	-	37	6107	c.6007C>A	c.(6007-6009)Cta>Ata	p.L2003I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2003	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGTTAATTAGCAGAGGTTTG	0.318																																																	0													153	133	139					2																	196741378		1813	4069	5882	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6007C>A	2.37:g.196741378G>T	ENSP00000311273:p.Leu2003Ile		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L2003I	ENST00000312428.6	37	c.6007	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331658	0.24167	.	.	ENSG00000118997	ENST00000312428	T	0.35421	1.31	5.64	1.67	0.24075	ATPase, AAA+ type, core (1);	0.231419	0.37095	N	0.002242	T	0.17023	0.0409	N	0.11023	0.085	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.08554	-1.0716	10	0.17832	T	0.49	.	9.1952	0.37224	0.0686:0.0:0.4969:0.4345	.	2003	Q8WXX0	DYH7_HUMAN	I	2003	ENSP00000311273:L2003I	ENSP00000311273:L2003I	L	-	1	2	DNAH7	196449623	1.000000	0.71417	0.887000	0.34795	0.898000	0.52572	1.895000	0.39778	0.120000	0.18254	0.650000	0.86243	CTA	DNAH7	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000118997		0.318	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	81	0	G	NM_018897		196741378	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	21.67	47	13	SNP	0.968	T	T	196741378	G	T	196741378	3	4	63	1	0	0	0	0	1	0	0	0	4620	962	34	3	6183	3	DNAH7	2	196741378	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	26801339	196741378	46457995	21	17623											
CCDC150	284992	genome.wustl.edu	37	chr2	197531526	197531526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcccaggaacaaaaaaaAaaagaagagttggagattgc	19	5	11	6	0	0	3	0	0	0	3	0	5	0	4	1	3	2	1	1	3	7	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:197531526A>T	ENST00000389175.4	+	7	981	c.846A>T	c.(844-846)aaA>aaT	p.K282N	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	282										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AACAAAAAAAAAAAGAAGAGT	0.373																																																	0													47	46	46					2																	197531526		1808	4073	5881	SO:0001583	missense	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.846A>T	2.37:g.197531526A>T	ENSP00000373827:p.Lys282Asn		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.K282N	ENST00000389175.4	37	c.846	CCDS46478.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.40|11.40	1.626583|1.626583	0.28978|0.28978	.|.	.|.	ENSG00000144395|ENSG00000144395	ENST00000536389|ENST00000389175	.|T	.|0.28895	.|1.59	5.32|5.32	-4.54|-4.54	0.03452|0.03452	.|.	1.933600|1.933600	0.03152|0.03152	N|N	0.168162|0.168162	T|T	0.31979|0.31979	0.0814|0.0814	L|L	0.43152|0.43152	1.355|1.355	0.20489|0.20489	N|N	0.999892|0.999892	.|B;B	.|0.30281	.|0.275;0.275	.|B;B	.|0.36418	.|0.224;0.17	T|T	0.32929|0.32929	-0.9888|-0.9888	7|10	0.44086|0.21014	T|T	0.13|0.42	-4.5352|-4.5352	16.5215|16.5215	0.84318|0.84318	0.2624:0.0:0.7376:0.0|0.2624:0.0:0.7376:0.0	.|.	.|282;282	.|Q8NCX0;F5H6M2	.|CC150_HUMAN;.	I|N	282|282	.|ENSP00000373827:K282N	ENSP00000437528:K282I|ENSP00000373827:K282N	K|K	+|+	2|3	0|2	CCDC150|CCDC150	197239771|197239771	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.809000|0.809000	0.45718|0.45718	-0.045000|-0.045000	0.12003|0.12003	-1.079000|-1.079000	0.03113|0.03113	-0.250000|-0.250000	0.11733|0.11733	AAA|AAA	CCDC150	-	NULL	ENSG00000144395		0.373	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	-	0	53	0	A	NM_001080539		197531526	1	tier1	-	no_errors	ENST00000389175	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.000	T	T	197531526	A	T	197531526	3	4	63	1	0	0	0	0	1	0	0	0	2792	11	1	5	872	5	CCDC150	2	197531526	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	790148	197531526	45667847	22	17624											
BARD1	580	genome.wustl.edu	37	chr2	215609878	215609878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaggaacaacaacatGagttactaaaatacaaaaaa	23	6	4	8	0	1	1	1	1	0	0	1	2	1	2	1	1	5	1	1	1	10	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:215609878G>T	ENST00000260947.4	-	9	1950	c.1816C>A	c.(1816-1818)Cat>Aat	p.H606N	BARD1_ENST00000449967.2_Missense_Mutation_p.H462N	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	606	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAACAACATGAGTTACTAAA	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																																								0													70	65	66					2																	215609878		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"Ankyrin repeat domain containing"	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1816C>A	2.37:g.215609878G>T	ENSP00000260947:p.His606Asn		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt	p.H606N	ENST00000260947.4	37	c.1816	CCDS2397.1	2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878750	0.72294	.	.	ENSG00000138376	ENST00000260947;ENST00000449967;ENST00000421162	T;T;T	0.70164	-0.46;-0.46;-0.46	5.43	5.43	0.79202	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	M	0.92880	3.355	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89720	0.3918	10	0.87932	D	0	-24.3546	19.2251	0.93815	0.0:0.0:1.0:0.0	.	462;606	E7EUI3;Q99728	.;BARD1_HUMAN	N	606;462;155	ENSP00000260947:H606N;ENSP00000406752:H462N;ENSP00000392245:H155N	ENSP00000260947:H606N	H	-	1	0	BARD1	215318123	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.746000	0.74866	2.531000	0.85337	0.650000	0.86243	CAT	BARD1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000138376		0.338	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARD1	HGNC	protein_coding	OTTHUMT00000256602.1	-	0	57	0	G	NM_000465		215609878	-1	tier1	-	no_errors	ENST00000260947	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	T	T	215609878	G	T	215609878	3	4	63	1	0	0	0	0	1	0	0	0	1313	1290	45	3	529	3	BARD1	2	215609878	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	18078352	215609878	27589495	23	17625											
ESPNL	339768	genome.wustl.edu	37	chr2	239033966	239033966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccccacctccactgttggCcacgaggcgctccctggagg	5	6	11	19	2	0	0	0	0	0	0	2	2	2	1	7	4	0	2	7	4	0	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:239033966C>T	ENST00000343063.3	+	6	1306	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	ESPNL_ENST00000409506.1_5'Flank|ESPNL_ENST00000409169.1_Missense_Mutation_p.A304V	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	348	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACTGTTGGCCACGAGGCGC	0.697																																																	0													37	33	35					2																	239033966		2189	4282	6471	SO:0001583	missense	0			AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"Ankyrin repeat domain containing"	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.1043C>T	2.37:g.239033966C>T	ENSP00000339115:p.Ala348Val		Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A348V	ENST00000343063.3	37	c.1043	CCDS2525.1	2	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.115103	0.06881	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.64438	-0.1;1.0	3.25	2.37	0.29283	.	0.776513	0.11380	N	0.569936	T	0.53174	0.1780	L	0.59436	1.845	0.20638	N	0.999872	B;B	0.17667	0.023;0.013	B;B	0.16722	0.016;0.007	T	0.40117	-0.9580	10	0.20519	T	0.43	-7.9051	6.77	0.23589	0.0:0.8689:0.0:0.1311	.	304;348	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	V	348;304	ENSP00000339115:A348V;ENSP00000386577:A304V	ENSP00000339115:A348V	A	+	2	0	ESPNL	238698705	0.054000	0.20591	0.014000	0.15608	0.030000	0.12068	1.006000	0.29847	0.942000	0.37525	0.436000	0.28706	GCC	ESPNL	-	NULL	ENSG00000144488		0.697	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPNL	HGNC	protein_coding	OTTHUMT00000257164.2		0	62	0	C	NM_194312		239033966	1			no_errors	ENST00000343063	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.014	T	T	239033966	C	T	239033966	3	4	63	1	0	0	0	0	1	0	0	0	5271	739	26	3	1065	3	ESPNL	2	239033966	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	23424088	239033966	4165407	24	17626											
SNED1	25992	genome.wustl.edu	37	chr2	241991277	241991277	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggcactgtgagatcGgtgcggcccccaggggcagg	6	5	19	11	2	0	1	0	1	0	1	1	3	0	2	2	7	1	2	2	7	0	0			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr2:241991277G>A	ENST00000310397.8	+	13	1852	c.1852G>A	c.(1852-1854)Ggg>Agg	p.G618R	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Splice_Site_p.G618R|SNED1_ENST00000405547.3_Splice_Site_p.G618R|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Splice_Site_p.G618R	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	618					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CTGTGAGATCGGTGCGGCCCC	0.711																																																	0													9	12	11					2																	241991277		1973	4098	6071	SO:0001630	splice_region_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1852+1G>A	2.37:g.241991277G>A			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.G618R	ENST00000310397.8	37	c.1852	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599252	0.66332	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	3.9	3.9	0.45041	.	0.116380	0.38217	N	0.001771	D	0.90407	0.6997	N	0.04669	-0.19	0.47276	D	0.999372	D	0.89917	1.0	D	0.97110	1.0	D	0.92957	0.6385	10	0.59425	D	0.04	.	15.867	0.79071	0.0:0.0:1.0:0.0	.	618	Q8TER0	SNED1_HUMAN	R	618	ENSP00000384871:G618R;ENSP00000386007:G618R;ENSP00000308893:G618R;ENSP00000342992:G618R	ENSP00000308893:G618R	G	+	1	0	SNED1	241639950	1.000000	0.71417	0.995000	0.50966	0.561000	0.35649	8.587000	0.90810	1.708000	0.51301	0.455000	0.32223	GGG	SNED1	-	NULL	ENSG00000162804		0.711	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	-	0	46	0	G	XM_059482	Missense_Mutation	241991277	1	tier1	-	no_errors	ENST00000310397	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	A	A	241991277	G	A	241991277	5	1	63	1	0	0	0	0	0	0	1	0	14890	1130	39	1	1902	1	SNED1	2	241991277	Splice_Site	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	2957311	241991277	1208096	25	17627											
DLEC1	9940	genome.wustl.edu	37	chr3	38126915	38126915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgatccccctgcaggcccGgaggccgccccccgtgctga	4	6	12	19	3	1	2	0	2	1	0	2	3	2	3	7	3	2	2	7	3	0	0			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr3:38126915G>A	ENST00000308059.6	+	8	1433	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q	DLEC1_ENST00000346219.3_Missense_Mutation_p.R471Q|DLEC1_ENST00000452631.2_Missense_Mutation_p.R471Q|DLEC1_ENST00000469151.1_Intron					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTGCAGGCCCGGAGGCCGCCC	0.537																																																	0													69	76	74					3																	38126915		1930	4119	6049	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1412G>A	3.37:g.38126915G>A	ENSP00000308597:p.Arg471Gln			Missense_Mutation	SNP	superfamily_PapD-like	p.R471Q	ENST00000308059.6	37	c.1412	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755104	0.69648	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05649	3.43;3.41;3.65	4.83	3.02	0.34903	.	0.289166	0.32287	N	0.006315	T	0.19406	0.0466	M	0.75264	2.295	0.32840	D	0.505283	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.953;0.977	T	0.14671	-1.0464	10	0.29301	T	0.29	-18.7904	9.558	0.39351	0.1761:0.0:0.8239:0.0	.	471;471;471	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	Q	471	ENSP00000308597:R471Q;ENSP00000315914:R471Q;ENSP00000410427:R471Q	ENSP00000308597:R471Q	R	+	2	0	DLEC1	38101919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.760000	0.55235	1.024000	0.39682	0.655000	0.94253	CGG	DLEC1	-	NULL	ENSG00000008226		0.537	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0	24	0	G	NM_007337		38126915	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	A	A	38126915	G	A	38126915	3	1	63	1	0	0	0	0	1	0	0	0	4566	1116	39	1	1442	1	DLEC1	3	38126915	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		38126915	159895515	26	17628											
ZBTB11	27107	genome.wustl.edu	37	chr3	101370141	101370141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatactttggtcagaaaGtgtagataccgatggatact	14	12	9	6	1	1	2	1	0	0	2	1	4	1	3	1	2	3	1	1	2	6	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr3:101370141G>A	ENST00000312938.4	-	11	3611	c.3031C>T	c.(3031-3033)Ctt>Ttt	p.L1011F		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	1011					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGTCAGAAAGTGTAGATACC	0.413																																																	0													149	139	142					3																	101370141		2203	4300	6503	SO:0001583	missense	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.3031C>T	3.37:g.101370141G>A	ENSP00000326200:p.Leu1011Phe		Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L1011F	ENST00000312938.4	37	c.3031	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855415	0.91355	.	.	ENSG00000066422	ENST00000312938	T	0.14266	2.52	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01111	-1.1448	10	0.26408	T	0.33	-13.4272	19.5182	0.95174	0.0:0.0:1.0:0.0	.	1011	O95625	ZBT11_HUMAN	F	1011	ENSP00000326200:L1011F	ENSP00000326200:L1011F	L	-	1	0	ZBTB11	102852831	1.000000	0.71417	0.984000	0.44739	0.973000	0.67179	9.420000	0.97426	2.692000	0.91855	0.555000	0.69702	CTT	ZBTB11	-	NULL	ENSG00000066422		0.413	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	-	0	60	0	G	NM_014415		101370141	-1	tier1	-	no_errors	ENST00000312938	ensembl	human	known	74_37	missense	49.02	26	25	SNP	1.000	A	A	101370141	G	A	101370141	3	1	63	1	0	0	0	0	1	0	0	0	17572	1029	36	3	134	3	ZBTB11	3	101370141	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	63243226	101370141	96652289	27	17629											
MASP1	5648	genome.wustl.edu	37	chr3	186980434	186980434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggagaggaccacctcCtggccgggagtctgctctgt	6	7	15	13	1	2	1	0	0	2	1	3	4	3	3	5	5	1	1	5	5	0	0			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr3:186980434C>G	ENST00000337774.5	-	3	701	c.312G>C	c.(310-312)caG>caC	p.Q104H	MASP1_ENST00000169293.6_Missense_Mutation_p.Q104H|MASP1_ENST00000392472.2_5'UTR|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.Q104H|MASP1_ENST00000392470.2_Missense_Mutation_p.Q78H	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	104	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGACCACCTCCTGGCCGGGAG	0.547																																																	0													82	78	79					3																	186980434		2203	4300	6503	SO:0001583	missense	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.312G>C	3.37:g.186980434C>G	ENSP00000336792:p.Gln104His		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.Q104H	ENST00000337774.5	37	c.312	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217986	0.39201	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000169293;ENST00000392470;ENST00000392475	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.63	2.41	0.29592	CUB (5);	0.249687	0.40908	D	0.000982	T	0.22936	0.0554	L	0.48642	1.525	0.38357	D	0.9445	B;B;P;B	0.51351	0.155;0.001;0.944;0.248	B;B;P;B	0.53988	0.162;0.007;0.739;0.13	T	0.02698	-1.1122	10	0.41790	T	0.15	.	8.5234	0.33291	0.0:0.6568:0.0:0.3432	.	78;104;104;104	F8W876;P48740-3;P48740-2;P48740	.;.;.;MASP1_HUMAN	H	104;104;104;78;111	ENSP00000336792:Q104H;ENSP00000296280:Q104H;ENSP00000169293:Q104H;ENSP00000376262:Q78H;ENSP00000376267:Q111H	ENSP00000169293:Q104H	Q	-	3	2	MASP1	188463128	0.854000	0.29725	1.000000	0.80357	0.955000	0.61496	-0.009000	0.12765	0.376000	0.24707	0.655000	0.94253	CAG	MASP1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000127241		0.547	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	-	0	39	0	C	NM_001879		186980434	-1	tier1	-	no_errors	ENST00000296280	ensembl	human	known	74_37	missense	51.85	13	14	SNP	0.967	G	G	186980434	C	G	186980434	3	3	63	1	0	0	0	0	1	0	0	0	9360	680	24	5	2788	5	MASP1	3	186980434	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	85610293	186980434	11041996	28	17630											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23831179	23831179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattataacttagctgagtGttggctggtgccagtaagag	10	13	12	6	0	1	2	1	1	0	1	1	2	1	2	1	2	3	4	1	2	4	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr4:23831179G>T	ENST00000264867.2	-	4	578	c.459C>A	c.(457-459)aaC>aaA	p.N153K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	153					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTAGCTGAGTGTTGGCTGGTG	0.383																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													144	133	137					4																	23831179		2203	4300	6503	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.459C>A	4.37:g.23831179G>T	ENSP00000264867:p.Asn153Lys		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N153K	ENST00000264867.2	37	c.459	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216717	0.58452	.	.	ENSG00000109819	ENST00000264867	T	0.25250	1.81	6.06	1.1	0.20463	.	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	M	0.79475	2.455	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.40646	-0.9552	10	0.59425	D	0.04	-14.4022	10.2468	0.43345	0.3402:0.0:0.6598:0.0	.	153	Q9UBK2	PRGC1_HUMAN	K	153	ENSP00000264867:N153K	ENSP00000264867:N153K	N	-	3	2	PPARGC1A	23440277	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.801000	0.47908	0.090000	0.17273	0.655000	0.94253	AAC	PPARGC1A	-	NULL	ENSG00000109819		0.383	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	-	0	66	0	G	NM_013261		23831179	-1	tier1	-	no_errors	ENST00000264867	ensembl	human	known	74_37	missense	8.06	57	5	SNP	1.000	T	T	23831179	G	T	23831179	3	4	63	1	0	0	0	0	1	0	0	0	12339	1368	48	3	1977	3	PPARGC1A	4	23831179	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		23831179	167323097	29	17631											
LIMCH1	22998	genome.wustl.edu	37	chr4	41621412	41621412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagaggaataccgcaagaGctggagtaccgccacctccc	12	4	12	13	2	0	2	0	0	0	2	1	6	1	4	5	2	3	3	5	2	4	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr4:41621412G>A	ENST00000313860.7	+	8	944	c.890G>A	c.(889-891)aGc>aAc	p.S297N	LIMCH1_ENST00000512820.1_Missense_Mutation_p.S297N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S143N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S150N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S297N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S297N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S143N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S138N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S138N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S297N|LIMCH1_ENST00000509454.1_Missense_Mutation_p.S145N|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S138N|LIMCH1_ENST00000509638.1_Missense_Mutation_p.S138N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S143N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	297					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TACCGCAAGAGCTGGAGTACC	0.587																																																	0													49	51	50					4																	41621412		2203	4300	6503	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.890G>A	4.37:g.41621412G>A	ENSP00000316891:p.Ser297Asn		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S138N	ENST00000313860.7	37	c.413	CCDS33977.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.566571|4.566571	0.86439|0.86439	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000508466|ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.55588	.|0.98;1.46;1.25;1.25;1.25;0.98;1.21;0.92;0.59;0.51;0.98;1.46;0.98;0.52	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.076228	.|0.85682	.|D	.|0.000000	T|T	0.74329|0.74329	0.3702|0.3702	M|M	0.73962|0.73962	2.25|2.25	0.53005|0.53005	D|D	0.999968|0.999968	.|D;P;D;D;D;D;D;D;D;D;D;D	.|0.76494	.|0.999;0.871;0.983;0.996;0.996;0.988;0.991;0.996;0.996;0.986;0.992;0.972	.|D;P;P;D;P;P;D;D;D;P;D;P	.|0.73708	.|0.968;0.548;0.877;0.925;0.908;0.778;0.981;0.925;0.912;0.82;0.912;0.633	T|T	0.75476|0.75476	-0.3304|-0.3304	5|10	.|0.87932	.|D	.|0	-19.8418|-19.8418	20.2982|20.2982	0.98569|0.98569	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|48;143;297;143;143;145;138;138;297;297;297;297	.|B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.|.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	T|N	132|138;138;297;297;297;297;297;138;138;137;150;143;145;143;143	.|ENSP00000425222:S138N;ENSP00000427311:S138N;ENSP00000424825:S297N;ENSP00000424645:S297N;ENSP00000316891:S297N;ENSP00000427045:S297N;ENSP00000424437:S297N;ENSP00000425631:S138N;ENSP00000421242:S138N;ENSP00000426334:S150N;ENSP00000422864:S143N;ENSP00000423355:S145N;ENSP00000379840:S143N;ENSP00000371172:S143N	.|ENSP00000316891:S297N	A|S	+|+	1|2	0|0	LIMCH1|LIMCH1	41316169|41316169	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.477000|0.477000	0.33069|0.33069	9.174000|9.174000	0.94824|0.94824	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GCT|AGC	LIMCH1	-	NULL	ENSG00000064042		0.587	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	-	0	26	0	G	NM_014988		41621412	1	tier1	-	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	A	A	41621412	G	A	41621412	3	1	63	1	0	0	0	0	1	0	0	0	8826	971	34	3	948	3	LIMCH1	4	41621412	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	17790233	41621412	149532864	30	17632											
PROL1	58503	genome.wustl.edu	37	chr4	71275215	71275215	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctccctatgactcaagacTtaattcaccactttctcttc	10	14	2	15	0	3	2	2	1	1	1	6	2	4	2	3	0	0	0	3	0	3	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr4:71275215T>G	ENST00000399575.2	+	3	344	c.170T>G	c.(169-171)cTt>cGt	p.L57R	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	57	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GACTCAAGACTTAATTCACCA	0.498																																																	0													215	206	209					4																	71275215		1953	4148	6101	SO:0001583	missense	0			S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"proline rich 1"			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.170T>G	4.37:g.71275215T>G	ENSP00000382485:p.Leu57Arg		A8MZ07|P85047	Missense_Mutation	SNP	NULL	p.L57R	ENST00000399575.2	37	c.170	CCDS43235.1	4	.	.	.	.	.	.	.	.	.	.	T	8.665	0.901429	0.17760	.	.	ENSG00000171199	ENST00000399575	T	0.28666	1.6	2.05	-0.694	0.11294	.	2.458670	0.02149	N	0.057825	T	0.20700	0.0498	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.15052	0.012	T	0.27640	-1.0068	10	0.87932	D	0	.	2.4862	0.04599	0.0:0.1836:0.2933:0.5231	.	57	Q99935	PROL1_HUMAN	R	57	ENSP00000382485:L57R	ENSP00000382485:L57R	L	+	2	0	PROL1	71309804	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.114000	0.01329	-0.139000	0.11414	0.402000	0.26972	CTT	PROL1	-	NULL	ENSG00000171199		0.498	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PROL1	HGNC	protein_coding	OTTHUMT00000362639.1	-	0	71	0	T	NM_021225		71275215	1	tier1	-	no_errors	ENST00000399575	ensembl	human	putative	74_37	missense	27.45	37	14	SNP	0.000	G	G	71275215	T	G	71275215	3	3	63	1	0	0	0	0	1	0	0	0	12596	1609	56	4	176	4	PROL1	4	71275215	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	29653803	71275215	119879061	31	17633											
SLC4A4	8671	genome.wustl.edu	37	chr4	72120957	72120957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccataccatttacatcGgagtccatgtgccgaagagt	11	9	9	12	2	0	1	0	0	0	1	2	3	1	2	5	1	3	0	5	1	3	3	rs377031010		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr4:72120957G>A	ENST00000264485.5	+	3	211	c.94G>A	c.(94-96)Gga>Aga	p.G32R	SLC4A4_ENST00000425175.1_Missense_Mutation_p.G32R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G32R|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	32					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CATTTACATCGGAGTCCATGT	0.443													G|||	1	0.000199681	0	0	5008	,	,		19537	0.001		0	False		,,,				2504	0																0								G	ARG/GLY,ARG/GLY	0,3926		0,0,1963	180	179	180		94,94	5.5	1	4		180	1,8297		0,1,4148	no	missense,missense	SLC4A4	NM_001098484.2,NM_001134742.1	125,125	0,1,6111	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging	32/1080,32/1095	72120957	1,12223	1963	4149	6112	SO:0001583	missense	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.94G>A	4.37:g.72120957G>A	ENSP00000264485:p.Gly32Arg		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.G32R	ENST00000264485.5	37	c.94	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	G	25.9	4.689077	0.88735	0.0	1.21E-4	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898	D;D;D	0.85861	-2.03;-2.04;-1.74	5.53	5.53	0.82687	.	0.049249	0.85682	D	0.000000	D	0.94118	0.8114	M	0.89968	3.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.98	D	0.94839	0.8003	10	0.87932	D	0	.	19.4812	0.95011	0.0:0.0:1.0:0.0	.	32;32;32	A5JJ20;Q9Y6R1-4;Q9Y6R1	.;.;S4A4_HUMAN	R	32	ENSP00000264485:G32R;ENSP00000393557:G32R;ENSP00000307349:G32R	ENSP00000264485:G32R	G	+	1	0	SLC4A4	72339821	1.000000	0.71417	0.998000	0.56505	0.755000	0.42902	9.416000	0.97383	2.608000	0.88229	0.650000	0.86243	GGA	SLC4A4	-	NULL	ENSG00000080493		0.443	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	-	0	48	0	G	NM_003759		72120957	1	tier1	-	no_errors	ENST00000425175	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	72120957	G	A	72120957	3	1	63	1	0	0	0	0	1	0	0	0	14701	1117	39	1	100	1	SLC4A4	4	72120957	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	845742	72120957	119033319	32	17634											
FAT4	79633	genome.wustl.edu	37	chr4	126408614	126408614	+	Frame_Shift_Del	DEL	A	A	-																															ggcacacttttctaattgggAaaaatggaacagcaacagta																										TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr4:126408614delA	ENST00000394329.3	+	16	12944	c.12931delA	c.(12931-12933)aaafs	p.K4311fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4311	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTAATTGGGAAAAATGGAAC	0.403																																																	0													82	83	83					4																	126408614		2203	4300	6503	SO:0001589	frameshift_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12931delA	4.37:g.126408614delA	ENSP00000377862:p.Lys4311fs		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.N4312fs	ENST00000394329.3	37	c.12931	CCDS3732.3	4																																																																																			FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	38	0	A	NM_024582		126408614	1	tier1		no_errors	ENST00000394329	ensembl	human	known	74_37	frame_shift_del	12.20	36	5	DEL	1.000	-	-	126408614	A	-	126408614	7	5	63	1	0	1	0	1	0	0	0	0	5714	247	9	0	12993	0	FAT4	4	126408614	Frame_Shift_Del	DEL	A	TCGA-L5-A4OP-01A-11D-A27G-09	54287657	126408614	64745662	33	17635											
PCDH18	54510	genome.wustl.edu	37	chr4	138442670	138442670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttttcaccggaatctGcaggctgagcgtcatcctca	7	13	8	13	2	6	1	3	1	3	0	7	2	7	2	2	2	2	2	2	2	1	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr4:138442670G>T	ENST00000344876.4	-	4	3307	c.2921C>A	c.(2920-2922)gCa>gAa	p.A974E	PCDH18_ENST00000511115.1_Missense_Mutation_p.A154E|PCDH18_ENST00000510305.1_Missense_Mutation_p.A185E|PCDH18_ENST00000412923.2_Missense_Mutation_p.A973E|PCDH18_ENST00000507846.1_Missense_Mutation_p.A753E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	974	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCGGAATCTGCAGGCTGAGC	0.493																																																	0													106	100	102					4																	138442670		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2921C>A	4.37:g.138442670G>T	ENSP00000355082:p.Ala974Glu		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A974E	ENST00000344876.4	37	c.2921	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929207	0.34096	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.53423	0.71;0.71;0.62;1.53;1.53	5.18	1.87	0.25490	.	0.586877	0.13974	N	0.349990	T	0.26991	0.0661	N	0.16478	0.41	0.28787	N	0.899524	B;B;B;B	0.27853	0.191;0.006;0.01;0.006	B;B;B;B	0.29942	0.109;0.01;0.022;0.01	T	0.16305	-1.0407	10	0.24483	T	0.36	.	5.0688	0.14596	0.3239:0.1555:0.5205:0.0	.	154;753;973;974	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	E	974;973;753;185;154	ENSP00000355082:A974E;ENSP00000390688:A973E;ENSP00000425903:A753E;ENSP00000424269:A185E;ENSP00000425647:A154E	ENSP00000355082:A974E	A	-	2	0	PCDH18	138662120	0.012000	0.17670	0.947000	0.38551	0.874000	0.50279	1.534000	0.36051	1.077000	0.40990	0.655000	0.94253	GCA	PCDH18	-	NULL	ENSG00000189184		0.493	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	25	0	G	NM_019035		138442670	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.979	T	T	138442670	G	T	138442670	3	4	63	1	0	0	0	0	1	0	0	0	11552	1319	46	3	490	3	PCDH18	4	138442670	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	12034056	138442670	52711606	34	17636											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5209225	5209225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgctcaagctatctgcCttgctgatcagccaaagcct	9	9	8	15	1	3	1	2	1	1	0	3	1	3	1	4	0	5	4	4	0	3	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr5:5209225C>A	ENST00000274181.7	+	10	1609	c.1471C>A	c.(1471-1473)Ctt>Att	p.L491I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L491I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	491	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCTATCTGCCTTGCTGATCA	0.453																																																	0													169	167	168					5																	5209225		1886	4122	6008	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1471C>A	5.37:g.5209225C>A	ENSP00000274181:p.Leu491Ile		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L491I	ENST00000274181.7	37	c.1471	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607949	0.46527	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.69561	-0.41;-0.41	5.9	5.9	0.94986	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000003	T	0.79997	0.4543	L	0.54965	1.715	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.982;0.99	T	0.79914	-0.1602	10	0.66056	D	0.02	.	19.0504	0.93041	0.0:1.0:0.0:0.0	.	491;491;491	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	491	ENSP00000274181:L491I;ENSP00000421631:L491I	ENSP00000274181:L491I	L	+	1	0	ADAMTS16	5262225	1.000000	0.71417	0.904000	0.35570	0.071000	0.16799	2.555000	0.45854	2.788000	0.95919	0.650000	0.86243	CTT	ADAMTS16	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000145536		0.453	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	54	0	C	NM_139056		5209225	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	A	A	5209225	C	A	5209225	3	1	63	1	0	0	0	0	1	0	0	0	261	681	24	3	1509	3	ADAMTS16	5	5209225	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		5209225	175706035	35	17637											
APC	324	genome.wustl.edu	37	chr5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A																															aaaccaagagaaagaggcagINSaaaaaactattgattctgaa																								rs587783031		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	APC_ENST00000508376.2_Frame_Shift_Ins_p.E1554fs|APC_ENST00000257430.4_Frame_Shift_Ins_p.E1554fs|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	50	Insertion - Frameshift(45)|Deletion - Frameshift(3)|Substitution - Nonsense(1)|Unknown(1)	large_intestine(45)|stomach(3)|soft_tissue(1)|skin(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4666dupA	5.37:g.112175957_112175957dupA	ENSP00000413133:p.Glu1554fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T1556fs	ENST00000457016.1	37	c.4660_4661	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.342	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	19	0	-	NM_000038		112175952	1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_ins	50.00	6	6	INS	0.925:0.945	A	A	112175952	-	A	112175951	7	5	63	1	0	1	1	0	0	0	0	0	763	943	33	0	4718	0	APC	5	112175951	Frame_Shift_Ins	INS	-	TCGA-L5-A4OP-01A-11D-A27G-09	106966726	112175951	68739309	36	17638											
PCDHB3	56132	genome.wustl.edu	37	chr5	140481518	140481519	+	Missense_Mutation	DNP	CC	CC	AA																															ctatcactgacctggggacaCccaggctgaaaaccaagtac																										TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr5:140481518_140481519CC>AA	ENST00000231130.2	+	1	1285_1286	c.1285_1286CC>AA	c.(1285-1287)CCc>AAc	p.P429N	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGGGACACCCAGGCTGAAA	0.525																																																	0																																										SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	Exception_encountered	5.37:g.140481518_140481519delinsAA	ENSP00000231130:p.Pro429Asn		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P429T|p.P429H	ENST00000231130.2	37	c.1285|c.1286	CCDS4245.1	5																																																																																			PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.525	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	112	0	C	NM_018937		140481518|140481519	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	46.38|45.07	37|39	32	SNP	0.992|0.991	A	AA	140481519	CC	AA	140481518	3	1	63	1	0	0	0	0	1	0	0	0	11582	507	18	3	1287	3	PCDHB3	5	140481518	Missense_Mutation	DNP	CC	TCGA-L5-A4OP-01A-11D-A27G-09	28305567	140481518	40433742	37	17639											
HLA-B	3106	genome.wustl.edu	37	chr6	31322279	31322279	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagctgtgagagacacaTcagagccctgggcactgtcg	10	8	12	11	1	2	3	2	1	0	2	3	4	2	3	1	1	2	2	1	1	1	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr6:31322279T>G	ENST00000412585.2	-	7	1098	c.1070A>C	c.(1069-1071)gAt>gCt	p.D357A		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	357					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GAGAGACACATCAGAGCCCTG	0.597									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													47	51	49					6																	31322279		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.1070A>C	6.37:g.31322279T>G	ENSP00000399168:p.Asp357Ala		Q29764	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.D357A	ENST00000412585.2	37	c.1070	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	10.47	1.358039	0.24598	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596	T	0.06294	3.32	3.2	-1.58	0.08479	MHC class I, alpha chain, C-terminal (1);	2.264960	0.03611	U	0.234769	T	0.15522	0.0374	M	0.93898	3.47	0.09310	N	1	D	0.71674	0.998	D	0.91635	0.999	T	0.03374	-1.1043	10	0.87932	D	0	.	3.0301	0.06104	0.4741:0.1249:0.0:0.4011	.	357	P01889	1B07_HUMAN	A	357;236;197	ENSP00000399168:D357A	ENSP00000399168:D357A	D	-	2	0	HLA-B	31430258	0.001000	0.12720	0.047000	0.18901	0.163000	0.22366	-0.084000	0.11268	-0.423000	0.07394	0.368000	0.22195	GAT	HLA-B	-	pfam_MHC_I_a_C	ENSG00000234745		0.597	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	-	0	75	0	T	NM_005514		31322279	-1	tier1	-	no_errors	ENST00000412585	ensembl	human	known	74_37	missense	45.45	18	15	SNP	0.071	G	G	31322279	T	G	31322279	3	3	63	1	0	0	0	0	1	0	0	0	7223	1435	50	4	22	4	HLA-B	6	31322279	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09		31322279	139792788	38	17640											
C6orf222	389384	genome.wustl.edu	37	chr6	36298422	36298422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgtccagagacctggCtttcttctccgccaggggcc	4	9	12	16	2	2	1	0	0	2	1	4	2	3	1	6	4	0	1	6	4	0	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr6:36298422C>A	ENST00000437635.2	-	2	223	c.46G>T	c.(46-48)Gcc>Tcc	p.A16S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	16										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGAGACCTGGCTTTCTTCTCC	0.587																																																	0													41	46	45					6																	36298422		2184	4272	6456	SO:0001583	missense	0				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.46G>T	6.37:g.36298422C>A	ENSP00000418983:p.Ala16Ser		B2RTY8	Missense_Mutation	SNP	NULL	p.A16S	ENST00000437635.2	37	c.46	CCDS34439.1	6	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336541	0.60963	.	.	ENSG00000189325	ENST00000437635	T	0.57907	0.37	4.98	-1.38	0.09027	.	0.780749	0.10909	N	0.620808	T	0.27489	0.0675	L	0.34521	1.04	0.09310	N	1	P	0.50156	0.932	P	0.50659	0.647	T	0.10222	-1.0639	10	0.59425	D	0.04	-23.6699	4.9458	0.13989	0.0:0.3858:0.1543:0.4599	.	16	P0C671	CF222_HUMAN	S	16	ENSP00000418983:A16S	ENSP00000418983:A16S	A	-	1	0	C6orf222	36406400	0.006000	0.16342	0.163000	0.22734	0.022000	0.10575	-0.999000	0.03697	-0.262000	0.09392	-0.373000	0.07131	GCC	C6orf222	-	NULL	ENSG00000189325		0.587	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2	-	0	26	0	C	NM_001010903		36298422	-1	tier1	-	no_errors	ENST00000437635	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.012	A	A	36298422	C	A	36298422	3	1	63	1	0	0	0	0	1	0	0	0	2363	797	28	3	1956	3	C6orf222	6	36298422	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	4976143	36298422	134816645	39	17641											
C6orf165	154313	genome.wustl.edu	37	chr6	88173824	88173824	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccaagtgtaccctccAaaggacactagcacccagtc	11	8	7	15	0	0	0	0	0	0	0	3	1	2	1	4	1	2	3	4	1	4	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr6:88173824A>G	ENST00000507897.1	+	13	1808	c.1725A>G	c.(1723-1725)ccA>ccG	p.P575P	C6ORF165_ENST00000369562.4_Silent_p.P575P|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	575										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGTACCCTCCAAAGGACACTA	0.483																																																	0													67	61	63					6																	88173824		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1725A>G	6.37:g.88173824A>G			A8K969|E1P507|Q8N9U4	Silent	SNP	pfam_DUF3508	p.P575	ENST00000507897.1	37	c.1725	CCDS34498.1	6																																																																																			C6ORF165	-	NULL	ENSG00000272514		0.483	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	Uniprot_gn	protein_coding	OTTHUMT00000470406.1	-	0	30	0	A	NM_178823		88173824	1	tier1	-	no_errors	ENST00000369562	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.000	G	G	88173824	A	G	88173824	2	3	63	1	0	0	0	0	0	0	0	1	2348	117	5	4		4	C6orf165	6	88173824	Silent	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	51875402	88173824	82941243	40	17642											
ENPP1	5167	genome.wustl.edu	37	chr6	132199731	132199731	+	Frame_Shift_Del	DEL	A	A	-																															gttcaatctgactgtggcagAaggtaaggcatgctacacac																										TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr6:132199731delA	ENST00000360971.2	+	19	1963	c.1943delA	c.(1942-1944)gaafs	p.E649fs		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	649					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACTGTGGCAGAAGGTAAGGCA	0.378																																					Colon(104;336 1535 5856 11019 33782)												0													73	68	69					6																	132199731		2203	4300	6503	SO:0001589	frameshift_variant	0			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1943delA	6.37:g.132199731delA	ENSP00000354238:p.Glu649fs		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Frame_Shift_Del	DEL	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E649fs	ENST00000360971.2	37	c.1943	CCDS5150.2	6																																																																																			ENPP1	-	NULL	ENSG00000197594		0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2		0	26	0	A			132199731	1	tier1		no_errors	ENST00000360971	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.996	-	-	132199731	A	-	132199731	7	5	63	1	0	1	0	1	0	0	0	0	5145	246	9	0	2017	0	ENPP1	6	132199731	Frame_Shift_Del	DEL	A	TCGA-L5-A4OP-01A-11D-A27G-09	44025907	132199731	38915336	41	17643											
HIVEP2	3097	genome.wustl.edu	37	chr6	143091582	143091582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacctcccagggtggccaCgctgtcagaggtggaaggta	8	7	15	11	1	1	1	1	0	0	1	2	2	2	2	3	5	1	3	3	5	3	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr6:143091582C>T	ENST00000367604.1	-	4	4933	c.4294G>A	c.(4294-4296)Gtg>Atg	p.V1432M	HIVEP2_ENST00000367603.2_Missense_Mutation_p.V1432M|HIVEP2_ENST00000012134.2_Missense_Mutation_p.V1432M			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGGGTGGCCACGCTGTCAGAG	0.522																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													87	87	87					6																	143091582		1972	4166	6138	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4294G>A	6.37:g.143091582C>T	ENSP00000356576:p.Val1432Met		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1432M	ENST00000367604.1	37	c.4294	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667119	0.29604	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02345	4.33;4.33;4.33	5.81	5.81	0.92471	.	0.782532	0.12350	N	0.476610	T	0.01627	0.0052	L	0.40543	1.245	0.09310	N	1	P	0.43024	0.798	B	0.31337	0.128	T	0.48456	-0.9034	10	0.56958	D	0.05	-1.4031	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1432	P31629	ZEP2_HUMAN	M	1432	ENSP00000356576:V1432M;ENSP00000356575:V1432M;ENSP00000012134:V1432M	ENSP00000012134:V1432M	V	-	1	0	HIVEP2	143133275	0.910000	0.30920	0.010000	0.14722	0.824000	0.46624	4.864000	0.62990	2.746000	0.94184	0.655000	0.94253	GTG	HIVEP2	-	NULL	ENSG00000010818		0.522	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0	67	0	C			143091582	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.161	T	T	143091582	C	T	143091582	3	4	63	1	0	0	0	0	1	0	0	0	7214	536	19	1	3070	1	HIVEP2	6	143091582	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	10891851	143091582	28023485	42	17644											
PARK2	5071	genome.wustl.edu	37	chr6	161990396	161990396	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcactcacctgctcttcTcccagaatcctgaagtgatg	8	12	7	14	0	4	3	2	2	2	1	6	3	5	3	3	0	2	2	3	0	2	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr6:161990396T>C	ENST00000366898.1	-	8	1026	c.924A>G	c.(922-924)ggA>ggG	p.G308G	PARK2_ENST00000366894.1_Silent_p.G117G|PARK2_ENST00000366897.1_Silent_p.G280G|PARK2_ENST00000366892.1_Silent_p.G308G|PARK2_ENST00000366896.1_Silent_p.G159G|PARK2_ENST00000338468.3_Silent_p.G117G	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	308					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCTGCTCTTCTCCCAGAATCC	0.473																																																	0													114	108	110					6																	161990396		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.924A>G	6.37:g.161990396T>C			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin	p.G308	ENST00000366898.1	37	c.924	CCDS5281.1	6																																																																																			PARK2	-	pirsf_Parkin,prints_Parkin	ENSG00000185345		0.473	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	-	0	25	0	T			161990396	-1	tier1	-	no_errors	ENST00000366898	ensembl	human	known	74_37	silent	47.50	21	19	SNP	1.000	C	C	161990396	T	C	161990396	2	2	63	1	0	0	0	0	0	0	0	1	11488	1538	54	4		4	PARK2	6	161990396	Silent	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	18898814	161990396	9124671	43	17645											
C6orf70	55780	genome.wustl.edu	37	chr6	170179348	170179348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagttggtcaacattcatGctgtttgtgggaagaatgcg	9	13	14	5	1	2	1	2	0	0	1	2	3	2	3	0	3	3	3	0	3	3	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr6:170179348G>T	ENST00000366773.3	+	17	1843	c.1810G>T	c.(1810-1812)Gct>Tct	p.A604S	ERMARD_ENST00000366772.2_Missense_Mutation_p.A557S|ERMARD_ENST00000392095.4_Missense_Mutation_p.A478S|ERMARD_ENST00000588451.1_Missense_Mutation_p.A468S|ERMARD_ENST00000418781.3_Missense_Mutation_p.A531S	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	604					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CAACATTCATGCTGTTTGTGG	0.438																																																	0													231	175	194					6																	170179348		2203	4300	6503	SO:0001583	missense	0			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1810G>T	6.37:g.170179348G>T	ENSP00000355735:p.Ala604Ser		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.A604S	ENST00000366773.3	37	c.1810	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	G	7.775	0.708323	0.15239	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.42131	0.99;0.98	5.46	-0.168	0.13343	.	2.576940	0.01279	N	0.009666	T	0.15912	0.0383	L	0.60455	1.87	0.09310	N	1	B;B;B	0.23442	0.053;0.012;0.085	B;B;B	0.19666	0.022;0.006;0.026	T	0.04825	-1.0924	10	0.22109	T	0.4	.	4.1309	0.10149	0.3866:0.0:0.3615:0.2519	.	557;531;604	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	S	604;557;531;478;252	ENSP00000355735:A604S;ENSP00000375945:A478S	ENSP00000355733:A252S	A	+	1	0	C6orf70	169921273	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.272000	0.08560	0.015000	0.14971	0.638000	0.83543	GCT	ERMARD	-	NULL	ENSG00000130023		0.438	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMARD	HGNC	protein_coding	OTTHUMT00000043238.2		0	81	0	G	NM_018341		170179348	1			no_errors	ENST00000366773	ensembl	human	known	74_37	missense	5.26	71	4	SNP	0.000	T	T	170179348	G	T	170179348	3	4	63	1	0	0	0	0	1	0	0	0	2377	1319	46	3	1876	3	C6orf70	6	170179348	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	8188952	170179348	935719	44	17646											
SDK1	221935	genome.wustl.edu	37	chr7	4188991	4188991	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggcagcgacggggcctcCcccatccggtacttcaccat	6	6	11	18	4	1	0	1	0	0	0	3	1	3	0	6	4	2	2	6	4	1	2	rs372350055		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:4188991C>A	ENST00000404826.2	+	30	4660	c.4521C>A	c.(4519-4521)tcC>tcA	p.S1507S	SDK1_ENST00000389531.3_Silent_p.S1507S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1507	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACGGGGCCTCCCCCATCCGGT	0.687																																																	0													32	31	31					7																	4188991		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4521C>A	7.37:g.4188991C>A			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1507	ENST00000404826.2	37	c.4521	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.687	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	106	0	C	NM_152744		4188991	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	10.29	61	7	SNP	0.973	A	A	4188991	C	A	4188991	2	1	63	1	0	0	0	0	0	0	0	1	14013	610	22	3		3	SDK1	7	4188991	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		4188991	154949672	45	17647											
MEOX2	4223	genome.wustl.edu	37	chr7	15666529	15666529	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgacttctgacttgtaatTtccttcctgggagtctgaaa	8	16	9	8	0	2	3	0	3	2	0	4	4	4	4	2	1	0	2	2	1	2	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:15666529T>G	ENST00000262041.5	-	2	941	c.532A>C	c.(532-534)Aat>Cat	p.N178H		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	178					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GACTTGTAATTTCCTTCCTGG	0.348																																					Esophageal Squamous(140;197 1769 16409 18257 29929)												0													261	230	241					7																	15666529		2203	4300	6503	SO:0001583	missense	0				CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"Homeoboxes / ANTP class : HOXL subclass"	7014	protein-coding gene	gene with protein product	"growth arrest-specific homeobox"	600535	"mesenchyme homeo box 2 (growth arrest-specific homeo box)", "mesenchyme homeobox 2 (growth arrest-specific homeo box)"	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.532A>C	7.37:g.15666529T>G	ENSP00000262041:p.Asn178His		B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.N178H	ENST00000262041.5	37	c.532	CCDS34605.1	7	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001987	0.74932	.	.	ENSG00000106511	ENST00000262041	D	0.95656	-3.77	5.74	5.74	0.90152	Homeodomain-like (1);	0.050376	0.85682	D	0.000000	D	0.91865	0.7425	N	0.22421	0.69	0.43003	D	0.994522	P	0.44309	0.832	B	0.41271	0.352	D	0.93082	0.6492	10	0.62326	D	0.03	-12.2473	16.0456	0.80720	0.0:0.0:0.0:1.0	.	178	P50222	MEOX2_HUMAN	H	178	ENSP00000262041:N178H	ENSP00000262041:N178H	N	-	1	0	MEOX2	15633054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.396000	0.79891	2.193000	0.70182	0.482000	0.46254	AAT	MEOX2	-	superfamily_Homeodomain-like	ENSG00000106511		0.348	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX2	HGNC	protein_coding	OTTHUMT00000326058.2	-	0	55	0	T	NM_005924		15666529	-1	tier1	-	no_errors	ENST00000262041	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	G	G	15666529	T	G	15666529	3	3	63	1	0	0	0	0	1	0	0	0	9512	1841	64	4	390	4	MEOX2	7	15666529	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	11477538	15666529	143472134	46	17648											
GPR141	353345	genome.wustl.edu	37	chr7	37780495	37780495	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacaatgaggagcactgttTtaaatttcacaaagagcttg	15	12	8	6	0	1	2	1	1	0	1	1	3	1	3	0	1	3	3	0	1	5	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:37780495T>A	ENST00000447769.1	+	4	789	c.500T>A	c.(499-501)tTt>tAt	p.F167Y	GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.F167Y|EPDR1_ENST00000476620.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGCACTGTTTTAAATTTCAC	0.438																																																	0													143	134	137					7																	37780495		2203	4300	6503	SO:0001583	missense	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.500T>A	7.37:g.37780495T>A	ENSP00000390410:p.Phe167Tyr		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F167Y	ENST00000447769.1	37	c.500	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195923	0.58126	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.37752	1.18;1.18	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.45411	-0.9263	10	0.20519	T	0.43	-29.4922	13.3331	0.60500	0.0:0.0:0.0:1.0	.	167	Q7Z602	GP141_HUMAN	Y	167	ENSP00000390410:F167Y;ENSP00000334540:F167Y	ENSP00000334540:F167Y	F	+	2	0	GPR141	37747020	1.000000	0.71417	0.869000	0.34112	0.191000	0.23601	7.298000	0.78815	2.043000	0.60533	0.533000	0.62120	TTT	GPR141	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000187037		0.438	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	-	0	69	0	T	NM_181791		37780495	1	tier1	-	no_errors	ENST00000334425	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.995	A	A	37780495	T	A	37780495	3	1	63	1	0	0	0	0	1	0	0	0	6675	1841	64	5	502	5	GPR141	7	37780495	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	22113966	37780495	121358168	47	17649											
AEBP1	165	genome.wustl.edu	37	chr7	44148552	44148552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgatgctgagcgccagaCagacgaagagaaggaggagc	13	2	16	10	3	0	4	0	1	0	3	0	9	0	6	2	2	3	1	2	2	2	0	rs532526583		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:44148552C>T	ENST00000223357.3	+	7	1300	c.995C>T	c.(994-996)aCa>aTa	p.T332I	AEBP1_ENST00000450684.2_5'Flank|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	332					cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAGCGCCAGACAGACGAAGAG	0.642													C|||	1	0.000199681	0	0	5008	,	,		17504	0		0	False		,,,				2504	0.001																0													55	49	51					7																	44148552		2195	4294	6489	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.995C>T	7.37:g.44148552C>T	ENSP00000223357:p.Thr332Ile		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.T332I	ENST00000223357.3	37	c.995	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150414	0.37923	.	.	ENSG00000106624	ENST00000223357	D	0.95482	-3.72	4.53	3.64	0.41730	.	3.351510	0.01041	N	0.004310	D	0.92021	0.7472	N	0.24115	0.695	0.54753	D	0.999987	B	0.25441	0.126	B	0.21151	0.033	T	0.77720	-0.2482	10	0.59425	D	0.04	-8.6901	9.1716	0.37086	0.0:0.892:0.0:0.108	.	332	Q8IUX7	AEBP1_HUMAN	I	332	ENSP00000223357:T332I	ENSP00000223357:T332I	T	+	2	0	AEBP1	44115077	0.004000	0.15560	0.047000	0.18901	0.888000	0.51559	0.709000	0.25734	1.008000	0.39264	0.591000	0.81541	ACA	AEBP1	-	NULL	ENSG00000106624		0.642	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	-	0	44	0	C	NM_001129		44148552	1	tier1	-	no_errors	ENST00000223357	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.636	T	T	44148552	C	T	44148552	3	4	63	1	0	0	0	0	1	0	0	0	349	478	17	3	1021	3	AEBP1	7	44148552	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	6368057	44148552	114990111	48	17650											
PCLO	27445	genome.wustl.edu	37	chr7	82784982	82784982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggctttgcaggcccaggCtgtgatttttcatgtccagg	5	12	15	9	0	1	1	1	1	0	0	2	1	2	1	2	5	1	3	2	5	0	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:82784982C>G	ENST00000333891.9	-	2	1312	c.975G>C	c.(973-975)caG>caC	p.Q325H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q325H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGCCCAGGCTGTGATTTTT	0.547																																																	0													55	51	52					7																	82784982		1935	4142	6077	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.975G>C	7.37:g.82784982C>G	ENSP00000334319:p.Gln325His			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q325H	ENST00000333891.9	37	c.975	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	4.034	0.003803	0.07866	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20200	2.09;2.09	3.66	0.453	0.16639	.	.	.	.	.	T	0.14227	0.0344	L	0.29908	0.895	0.58432	D	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.06917	-1.0800	9	0.87932	D	0	.	8.1901	0.31363	0.0:0.4631:0.4411:0.0958	.	325;325	Q9Y6V0-5;Q9Y6V0-6	.;.	H	325	ENSP00000334319:Q325H;ENSP00000388393:Q325H	ENSP00000334319:Q325H	Q	-	3	2	PCLO	82622918	0.000000	0.05858	0.961000	0.40146	0.978000	0.69477	-0.581000	0.05820	0.079000	0.16929	-0.345000	0.07892	CAG	PCLO	-	NULL	ENSG00000186472		0.547	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	36	0	C	NM_014510		82784982	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	54.55	10	12	SNP	0.878	G	G	82784982	C	G	82784982	3	3	63	1	0	0	0	0	1	0	0	0	11622	796	28	5	14566	5	PCLO	7	82784982	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	38636430	82784982	76353681	49	17651											
GRM3	2913	genome.wustl.edu	37	chr7	86394478	86394478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatgaagatgttgacaaGactgcaagttcttaccttag	13	13	8	7	0	2	4	1	2	1	2	2	4	2	4	1	0	2	3	1	0	5	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:86394478G>A	ENST00000361669.2	+	2	1116	c.17G>A	c.(16-18)aGa>aAa	p.R6K	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R4K|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.R6K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	6					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ATGTTGACAAGACTGCAAGTT	0.398																																					GBM(52;969 1098 3139 52280)												0													152	154	153					7																	86394478		2203	4300	6503	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.17G>A	7.37:g.86394478G>A	ENSP00000355316:p.Arg6Lys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R6K	ENST00000361669.2	37	c.17	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655673	0.67586	.	.	ENSG00000198822	ENST00000361669;ENST00000439827;ENST00000394720;ENST00000421579;ENST00000441140	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.63	5.63	0.86233	.	0.338156	0.33005	N	0.005396	T	0.59404	0.2191	N	0.14661	0.345	0.33005	D	0.526805	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.57860	-0.7738	10	0.13108	T	0.6	.	18.6618	0.91474	0.0:0.0:1.0:0.0	.	6;6	G5E9K2;Q14832	.;GRM3_HUMAN	K	6;6;4;6;6	ENSP00000355316:R6K;ENSP00000398767:R6K;ENSP00000378209:R4K;ENSP00000390037:R6K;ENSP00000407490:R6K	ENSP00000355316:R6K	R	+	2	0	GRM3	86232414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.651000	0.54431	2.664000	0.90586	0.561000	0.74099	AGA	GRM3	-	prints_GPCR_3_mtglu_rcpt_3	ENSG00000198822		0.398	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0	52	0	G			86394478	1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	A	A	86394478	G	A	86394478	3	1	63	1	0	0	0	0	1	0	0	0	6825	942	33	3	19	3	GRM3	7	86394478	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	3609496	86394478	72744185	50	17652											
CYP51A1	1595	genome.wustl.edu	37	chr7	91761162	91761162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgcccaaggaatggaattgGggagaaaatgtatggaggac	15	7	15	4	0	0	1	0	0	0	1	0	6	0	5	1	6	1	1	1	6	6	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:91761162G>T	ENST00000003100.8	-	2	382	c.217C>A	c.(217-219)Cca>Aca	p.P73T	LRRD1_ENST00000422722.1_5'UTR|CTB-161K23.1_ENST00000453068.1_RNA|CYP51A1_ENST00000450723.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	67					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	AATGGAATTGGGGAGAAAATG	0.348																																					GBM(70;1100 1190 11592 25836 51397)												0													45	46	46					7																	91761162		2203	4297	6500	SO:0001583	missense	0			U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"Cytochrome P450s"	2649	protein-coding gene	gene with protein product		601637	"cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.217C>A	7.37:g.91761162G>T	ENSP00000003100:p.Pro73Thr		A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B	p.P73T	ENST00000003100.8	37	c.217	CCDS5623.1	7	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633273	0.47049	.	.	ENSG00000001630	ENST00000003100;ENST00000496998;ENST00000435873	T	0.70631	-0.5	5.22	5.22	0.72569	.	0.181085	0.56097	D	0.000032	T	0.45155	0.1328	N	0.04355	-0.22	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.41431	-0.9509	10	0.22706	T	0.39	.	9.1796	0.37134	0.0:0.1231:0.5713:0.3055	.	13;67	B3KRC6;Q16850	.;CP51A_HUMAN	T	73;13;17	ENSP00000003100:P73T	ENSP00000003100:P73T	P	-	1	0	CYP51A1	91599098	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.243000	0.43115	2.584000	0.87258	0.650000	0.86243	CCA	CYP51A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000001630		0.348	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP51A1	HGNC	protein_coding	OTTHUMT00000253812.4	-	0	77	0	G			91761162	-1	tier1	-	no_errors	ENST00000003100	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.972	T	T	91761162	G	T	91761162	3	4	63	1	0	0	0	0	1	0	0	0	4204	1232	43	3	1348	3	CYP51A1	7	91761162	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	5366684	91761162	67377501	51	17653											
PRKAR2B	5577	genome.wustl.edu	37	chr7	106791394	106791394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccttcaggagaataattGtgaaaaacaatgccaaaaag	20	8	7	6	0	1	2	1	1	0	1	1	3	1	2	2	1	3	0	2	1	8	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:106791394G>T	ENST00000265717.4	+	7	1028	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	257					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						GAGAATAATTGTGAAAAACAA	0.323																																																	0													69	71	70					7																	106791394		2203	4299	6502	SO:0001583	missense	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.769G>T	7.37:g.106791394G>T	ENSP00000265717:p.Val257Leu		A4D0R9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.V257L	ENST00000265717.4	37	c.769	CCDS5740.1	7	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877841	0.33162	.	.	ENSG00000005249	ENST00000265717;ENST00000543645;ENST00000539794	D	0.92299	-3.01	5.62	5.62	0.85841	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	N	0.10733	0.035	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.77892	-0.2418	10	0.02654	T	1	-24.6613	19.6568	0.95845	0.0:0.0:1.0:0.0	.	257	P31323	KAP3_HUMAN	L	257;257;244	ENSP00000265717:V257L	ENSP00000265717:V257L	V	+	1	0	PRKAR2B	106578630	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.763000	0.85283	2.656000	0.90262	0.650000	0.86243	GTG	PRKAR2B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom	ENSG00000005249		0.323	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1	-	0	35	0	G			106791394	1	tier1	-	no_errors	ENST00000265717	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	T	T	106791394	G	T	106791394	3	4	63	1	0	0	0	0	1	0	0	0	12548	1377	48	3	795	3	PRKAR2B	7	106791394	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	15030232	106791394	52347269	52	17654											
CAV1	857	genome.wustl.edu	37	chr7	116199315	116199315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatattcagcaatgtcCgcatcaacttgcagaaagaa	17	8	8	8	1	2	2	2	0	0	2	3	3	3	3	1	1	3	3	1	1	7	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:116199315C>T	ENST00000341049.2	+	3	789	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	CAV1_ENST00000393468.1_Missense_Mutation_p.R140C|CAV1_ENST00000393467.1_Missense_Mutation_p.R140C|CAV1_ENST00000405348.1_Missense_Mutation_p.R140C|CAV1_ENST00000393470.1_Missense_Mutation_p.R160C	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	171					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CAGCAATGTCCGCATCAACTT	0.393																																																	0													81	73	76					7																	116199315		2203	4300	6503	SO:0001583	missense	0			AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"caveolin 1, caveolae protein, 22kD"	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.511C>T	7.37:g.116199315C>T	ENSP00000339191:p.Arg171Cys		Q9UGP1|Q9UNG1|Q9UQH6	Missense_Mutation	SNP	pfam_Caveolin	p.R171C	ENST00000341049.2	37	c.511	CCDS5767.1	7	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548054	0.65311	.	.	ENSG00000105974	ENST00000341049;ENST00000393470;ENST00000405348;ENST00000393468;ENST00000393467	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.64	5.64	0.86602	.	0.111373	0.64402	D	0.000007	D	0.96172	0.8752	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.96243	0.9177	10	0.87932	D	0	-1.8576	13.2216	0.59892	0.2781:0.7219:0.0:0.0	.	171	Q03135	CAV1_HUMAN	C	171;160;140;140;140	ENSP00000339191:R171C;ENSP00000377113:R160C;ENSP00000384348:R140C;ENSP00000377111:R140C;ENSP00000377110:R140C	ENSP00000339191:R171C	R	+	1	0	CAV1	115986551	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.448000	0.60027	2.653000	0.90120	0.655000	0.94253	CGC	CAV1	-	pfam_Caveolin	ENSG00000105974		0.393	CAV1-001	KNOWN	basic|CCDS	protein_coding	CAV1	HGNC	protein_coding	OTTHUMT00000059734.4	-	0	39	0	C	NM_001753		116199315	1	tier1	-	no_errors	ENST00000341049	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	T	T	116199315	C	T	116199315	3	4	63	1	0	0	0	0	1	0	0	0	2700	652	23	1	521	1	CAV1	7	116199315	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	9407921	116199315	42939348	53	17655											
KCND2	3751	genome.wustl.edu	37	chr7	120385969	120385969	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgttcacgacgacacAaaaaaacttttcgcatccca	13	9	5	14	3	1	0	1	0	0	0	3	2	2	0	2	0	2	3	2	0	3	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:120385969A>C	ENST00000331113.4	+	5	2568	c.1603A>C	c.(1603-1605)Aaa>Caa	p.K535Q	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	535					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ACGACGACACAAAAAAACTTT	0.453																																																	0													146	121	129					7																	120385969		2203	4300	6503	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1603A>C	7.37:g.120385969A>C	ENSP00000333496:p.Lys535Gln		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.K535Q	ENST00000331113.4	37	c.1603	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287417	0.80803	.	.	ENSG00000184408	ENST00000331113	D	0.84873	-1.91	6.06	6.06	0.98353	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.053983	0.64402	D	0.000001	D	0.86653	0.5984	L	0.57536	1.79	0.36242	D	0.853323	P	0.39131	0.661	P	0.45794	0.493	D	0.88294	0.2945	9	.	.	.	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	535	Q9NZV8	KCND2_HUMAN	Q	535	ENSP00000333496:K535Q	.	K	+	1	0	KCND2	120173205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.169000	0.77578	2.324000	0.78689	0.533000	0.62120	AAA	KCND2	-	pfam_K_chnl_volt-dep_Kv4_C	ENSG00000184408		0.453	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	-	0	27	0	A	NM_012281		120385969	1	tier1	-	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	53.57	13	15	SNP	1.000	C	C	120385969	A	C	120385969	3	2	63	1	0	0	0	0	1	0	0	0	8046	131	5	4	1621	4	KCND2	7	120385969	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	4186654	120385969	38752694	54	17656											
EXOC4	60412	genome.wustl.edu	37	chr7	132937888	132937888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagctggtgggaaatacAgaagcacagtcagcaaaagc	17	4	12	8	0	1	1	1	0	0	1	1	2	1	2	0	2	6	4	0	2	6	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:132937888A>G	ENST00000253861.4	+	1	60	c.31A>G	c.(31-33)Aga>Gga	p.R11G	EXOC4_ENST00000393161.2_Missense_Mutation_p.R11G|EXOC4_ENST00000539845.1_5'Flank	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	11					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TGGGAAATACAGAAGCACAGT	0.602																																																	0													89	90	90					7																	132937888		2203	4300	6503	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.31A>G	7.37:g.132937888A>G	ENSP00000253861:p.Arg11Gly		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.R11G	ENST00000253861.4	37	c.31	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867125	0.72065	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.68	4.51	0.55191	.	0.043698	0.85682	D	0.000000	T	0.46386	0.1390	L	0.50919	1.6	0.80722	D	1	D;P	0.53885	0.963;0.948	P;B	0.44359	0.447;0.431	T	0.33752	-0.9856	9	0.18276	T	0.48	.	10.8072	0.46524	0.6727:0.3273:0.0:0.0	.	11;11	Q96A65;Q8TAR2	EXOC4_HUMAN;.	G	11	.	ENSP00000253861:R11G	R	+	1	2	EXOC4	132588428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.590000	0.46154	1.072000	0.40860	0.529000	0.55759	AGA	EXOC4	-	NULL	ENSG00000131558		0.602	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	-	0	41	0	A	NM_021807		132937888	1	tier1	-	no_errors	ENST00000253861	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	G	G	132937888	A	G	132937888	3	3	63	1	0	0	0	0	1	0	0	0	5322	180	7	4	33	4	EXOC4	7	132937888	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	12551919	132937888	26200775	55	17657											
CHRM2	1129	genome.wustl.edu	37	chr7	136699845	136699845	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataggtgttttctccatgaActtgtacaccctctacactg	9	14	6	12	0	2	1	0	1	2	0	3	1	2	1	2	1	3	2	2	1	4	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:136699845A>C	ENST00000445907.2	+	3	761	c.233A>C	c.(232-234)aAc>aCc	p.N78T	CHRM2_ENST00000453373.1_Missense_Mutation_p.N78T|CHRM2_ENST00000320658.5_Missense_Mutation_p.N78T|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.N78T|CHRM2_ENST00000402486.3_Missense_Mutation_p.N78T|CHRM2_ENST00000401861.1_Missense_Mutation_p.N78T|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	78					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTCTCCATGAACTTGTACACC	0.473																																																	0													225	200	208					7																	136699845		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.233A>C	7.37:g.136699845A>C	ENSP00000399745:p.Asn78Thr		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.N78T	ENST00000445907.2	37	c.233	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626575	0.66901	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54287	0.1849	L	0.52206	1.635	0.80722	D	1	D	0.65815	0.995	D	0.70016	0.967	T	0.56774	-0.7923	10	0.72032	D	0.01	-18.9264	15.4806	0.75524	1.0:0.0:0.0:0.0	.	78	P08172	ACM2_HUMAN	T	78	ENSP00000399745:N78T;ENSP00000415386:N78T;ENSP00000319984:N78T;ENSP00000380733:N78T;ENSP00000384937:N78T;ENSP00000384401:N78T	ENSP00000319984:N78T	N	+	2	0	CHRM2	136350385	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.243000	0.95416	2.059000	0.61396	0.524000	0.50904	AAC	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	ENSG00000181072		0.473	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	54	0	A			136699845	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	52.63	18	20	SNP	1.000	C	C	136699845	A	C	136699845	3	2	63	1	0	0	0	0	1	0	0	0	3384	43	2	4	235	4	CHRM2	7	136699845	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	3761957	136699845	22438818	56	17658											
WEE2	494551	genome.wustl.edu	37	chr7	141427103	141427103	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttggtcctatatcatcaGaacatgatccaacctgatgc	11	12	6	12	0	3	3	2	2	1	1	5	3	5	3	3	1	3	0	3	1	4	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr7:141427103G>A	ENST00000397541.2	+	10	1798		c.e10-1		WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|RNU1-82P_ENST00000390851.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TATATCATCAGAACATGATCC	0.478																																																	0													128	125	126					7																	141427103		1884	4119	6003	SO:0001630	splice_region_variant	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1393-1G>A	7.37:g.141427103G>A				Splice_Site	SNP	-	e10-1	ENST00000397541.2	37	c.1393-1	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716795	0.68844	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9823	0.97331	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WEE2	141073572	0.595000	0.26857	0.325000	0.25375	0.297000	0.27493	2.950000	0.49081	2.788000	0.95919	0.650000	0.86243	.	WEE2	-	-	ENSG00000214102		0.478	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	-	0	64	0	G	NM_001105558	Intron	141427103	1	tier1	-	no_errors	ENST00000397541	ensembl	human	known	74_37	splice_site	26.67	33	12	SNP	0.998	A	A	141427103	G	A	141427103	5	1	63	1	0	0	0	0	0	0	1	0	17394	956	33	3	1430	3	WEE2	7	141427103	Splice_Site	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	4727258	141427103	17711560	57	17659											
PCM1	5108	genome.wustl.edu	37	chr8	17814238	17814238	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgaagaaactgaagagtCagaatatgattctgagcatg	17	9	11	4	0	2	8	1	4	1	4	2	8	2	8	0	0	2	1	0	0	5	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr8:17814238C>G	ENST00000519253.1	+	11	1849	c.1598C>G	c.(1597-1599)tCa>tGa	p.S533*	PCM1_ENST00000325083.8_Nonsense_Mutation_p.S533*|PCM1_ENST00000524226.1_Nonsense_Mutation_p.S533*			Q15154	PCM1_HUMAN	pericentriolar material 1	533					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ACTGAAGAGTCAGAATATGAT	0.358			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													52	52	52					8																	17814238		1837	4090	5927	SO:0001587	stop_gained	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1598C>G	8.37:g.17814238C>G	ENSP00000431099:p.Ser533*		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP	NULL	p.S533*	ENST00000519253.1	37	c.1598		8	.	.	.	.	.	.	.	.	.	.	C	38	6.645189	0.97730	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	.	.	.	4.82	4.82	0.62117	.	0.123452	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-9.3426	18.7917	0.91976	0.0:1.0:0.0:0.0	.	.	.	.	X	533;572;533;533	.	ENSP00000327077:S533X	S	+	2	0	PCM1	17858518	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.294000	0.78760	2.616000	0.88540	0.650000	0.86243	TCA	PCM1	-	NULL	ENSG00000078674		0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	-	0	42	0	C	NM_006197		17814238	1	tier1	-	no_errors	ENST00000325083	ensembl	human	known	74_37	nonsense	36.84	24	14	SNP	1.000	G	G	17814238	C	G	17814238	4	3	63	1	0	0	0	0	0	1	0	0	11623	838	29	5	1632	5	PCM1	8	17814238	Nonsense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		17814238	128549784	58	17660											
XPO7	23039	genome.wustl.edu	37	chr8	21840253	21840253	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacagagccccacatgctgGaaacttacactcctgaggtc	11	7	8	15	0	0	2	0	1	0	1	2	3	1	3	4	2	4	1	4	2	2	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr8:21840253G>T	ENST00000252512.9	+	11	1307	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	XPO7_ENST00000434536.1_Nonsense_Mutation_p.E412*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.E404*	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	403				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCACATGCTGGAAACTTACAC	0.517																																																	0													150	148	149					8																	21840253		2029	4189	6218	SO:0001587	stop_gained	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.1207G>T	8.37:g.21840253G>T	ENSP00000252512:p.Glu403*		O94846|Q6PJK9|Q8NEK7	Nonsense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E412*	ENST00000252512.9	37	c.1234	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	G	40	7.999038	0.98602	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-13.2908	19.7463	0.96253	0.0:0.0:1.0:0.0	.	.	.	.	X	412;403;404	.	ENSP00000252512:E403X	E	+	1	0	XPO7	21896199	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.841000	0.99482	2.771000	0.95319	0.655000	0.94253	GAA	XPO7	-	superfamily_ARM-type_fold	ENSG00000130227		0.517	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1	-	0	42	0	G	NM_015024		21840253	1	tier1	-	no_errors	ENST00000434536	ensembl	human	known	74_37	nonsense	33.33	32	16	SNP	1.000	T	T	21840253	G	T	21840253	4	4	63	1	0	0	0	0	0	1	0	0	17498	1175	41	3	1301	3	XPO7	8	21840253	Nonsense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	4026015	21840253	124523769	59	17661											
PXDNL	137902	genome.wustl.edu	37	chr8	52323850	52323850	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagcccctgcttcacacgTtcccgtatcagctgcagcgt	6	10	10	15	3	2	1	2	1	0	0	3	1	3	1	3	0	5	5	3	0	1	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr8:52323850T>G	ENST00000356297.4	-	16	2122	c.2022A>C	c.(2020-2022)gaA>gaC	p.E674D	PXDNL_ENST00000543296.1_Missense_Mutation_p.E674D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	674					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCTTCACACGTTCCCGTATCA	0.522																																																	0													59	60	60					8																	52323850		2005	4181	6186	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2022A>C	8.37:g.52323850T>G	ENSP00000348645:p.Glu674Asp		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.E674D	ENST00000356297.4	37	c.2022	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	T	4.585	0.108759	0.08780	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66280	-0.18;-0.2	4.45	-8.9	0.00782	.	.	.	.	.	T	0.41558	0.1164	L	0.27053	0.805	0.09310	N	1	B	0.18166	0.026	B	0.15484	0.013	T	0.27262	-1.0079	9	0.37606	T	0.19	.	10.1525	0.42803	0.0:0.5264:0.3309:0.1427	.	674	A1KZ92	PXDNL_HUMAN	D	674	ENSP00000348645:E674D;ENSP00000444865:E674D	ENSP00000348645:E674D	E	-	3	2	PXDNL	52486403	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-3.859000	0.00348	-2.160000	0.00786	-0.911000	0.02809	GAA	PXDNL	-	NULL	ENSG00000147485		0.522	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	53	0	T	NM_144651		52323850	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.025	G	G	52323850	T	G	52323850	3	3	63	1	0	0	0	0	1	0	0	0	12893	1722	60	4	2401	4	PXDNL	8	52323850	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	30483597	52323850	94040172	60	17662											
RB1CC1	9821	genome.wustl.edu	37	chr8	53586543	53586543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatcgtagtttcatcttgCtgatgaacagtactttgaca	11	15	7	8	1	3	3	2	3	1	0	4	3	3	3	0	0	3	4	0	0	4	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr8:53586543C>T	ENST00000025008.5	-	7	1387	c.864G>A	c.(862-864)caG>caA	p.Q288Q	RB1CC1_ENST00000435644.2_Silent_p.Q288Q|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.Q288Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	288					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTTCATCTTGCTGATGAACAG	0.398																																					GBM(180;1701 2102 13475 42023 52570)												0													190	171	178					8																	53586543		2203	4300	6503	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.864G>A	8.37:g.53586543C>T			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.Q288	ENST00000025008.5	37	c.864	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.398	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0	87	0	C	NM_014781		53586543	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	silent	28.07	41	16	SNP	1.000	T	T	53586543	C	T	53586543	2	4	63	1	0	0	0	0	0	0	0	1	13144	796	28	3		3	RB1CC1	8	53586543	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	1262693	53586543	92777479	61	17663											
CSMD3	114788	genome.wustl.edu	37	chr8	113293572	113293572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttcctgggttaccacaCtgcacagctataaaacaaag	13	9	9	10	0	0	0	0	0	0	0	1	0	1	0	2	2	4	4	2	2	5	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr8:113293572C>G	ENST00000297405.5	-	59	9583	c.9339G>C	c.(9337-9339)caG>caC	p.Q3113H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2944H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3043H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3073H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3113	Sushi 23. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTTACCACACTGCACAGCTA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													77	66	70					8																	113293572		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9339G>C	8.37:g.113293572C>G	ENSP00000297405:p.Gln3113His		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q3113H	ENST00000297405.5	37	c.9339	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293643	0.60086	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.72	2.42	0.29668	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.36524	0.0970	L	0.35793	1.09	0.42567	D	0.993162	D;D;P	0.69078	0.997;0.995;0.855	D;D;P	0.85130	0.997;0.991;0.477	T	0.02625	-1.1132	10	0.46703	T	0.11	.	9.9902	0.41865	0.0:0.609:0.0:0.391	.	2944;3113;3073	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3073;3113;2383;2944;3043	ENSP00000345799:Q3073H;ENSP00000297405:Q3113H;ENSP00000341558:Q2383H;ENSP00000412263:Q2944H;ENSP00000343124:Q3043H	ENSP00000297405:Q3113H	Q	-	3	2	CSMD3	113362748	0.783000	0.28701	0.996000	0.52242	0.899000	0.52679	-0.012000	0.12699	0.161000	0.19458	0.650000	0.86243	CAG	CSMD3	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	44	0	C	NM_052900		113293572	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	48.28	15	14	SNP	1.000	G	G	113293572	C	G	113293572	3	3	63	1	0	0	0	0	1	0	0	0	3955	564	20	5	1836	5	CSMD3	8	113293572	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	59707029	113293572	33070450	62	17664											
TG	7038	genome.wustl.edu	37	chr8	133981759	133981759	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccgttccaaaaactgAtggggatatccattagaaat	13	10	9	9	1	0	2	0	1	0	1	2	3	2	3	4	2	2	1	4	2	5	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr8:133981759A>T	ENST00000220616.4	+	32	5960	c.5920A>T	c.(5920-5922)Atg>Ttg	p.M1974L	TG_ENST00000542445.1_Missense_Mutation_p.M344L|TG_ENST00000519543.1_Missense_Mutation_p.M128L|TG_ENST00000377869.1_Missense_Mutation_p.M1917L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1974			M -> T (in dbSNP:rs56230101).		hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAAAAACTGATGGGGATATC	0.348																																																	0													103	114	110					8																	133981759		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.5920A>T	8.37:g.133981759A>T	ENSP00000220616:p.Met1974Leu		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.M1974L	ENST00000220616.4	37	c.5920	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.65|10.65	1.408941|1.408941	0.25378|0.25378	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	.|T;T;T;T	.|0.64991	.|0.08;0.08;-0.13;-0.11	5.53|5.53	-1.54|-1.54	0.08584|0.08584	.|.	.|0.983060	.|0.08309	.|N	.|0.965734	T|T	0.46852|0.46852	0.1414|0.1414	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.002;0.006;0.005	.|B;B;B	.|0.15870	.|0.0;0.014;0.0	T|T	0.39563|0.39563	-0.9608|-0.9608	5|10	.|0.72032	.|D	.|0.01	.|.	3.7031|3.7031	0.08390|0.08390	0.4038:0.0:0.1598:0.4364|0.4038:0.0:0.1598:0.4364	.|.	.|128;344;1974	.|E7EVM0;F5GWW5;P01266	.|.;.;THYG_HUMAN	V|L	429|1917;780;1974;344;128	.|ENSP00000367100:M1917L;ENSP00000220616:M1974L;ENSP00000441693:M344L;ENSP00000430430:M128L	.|ENSP00000220616:M1974L	D|M	+|+	2|1	0|0	TG|TG	134050941|134050941	0.005000|0.005000	0.15991|0.15991	0.012000|0.012000	0.15200|0.15200	0.587000|0.587000	0.36485|0.36485	0.244000|0.244000	0.18124|0.18124	-0.529000|-0.529000	0.06358|0.06358	-0.388000|-0.388000	0.06559|0.06559	GAT|ATG	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.348	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	69	0	A	NM_003235		133981759	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.026	T	T	133981759	A	T	133981759	3	4	63	1	0	0	0	0	1	0	0	0	15860	333	12	5	6046	5	TG	8	133981759	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	20688187	133981759	12382263	63	17665											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974684	21974684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctctacccacctggatcGgcctccgaccgtaactattc	8	9	6	18	3	1	0	0	0	1	0	4	2	2	1	6	2	2	1	6	2	3	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr9:21974684G>A	ENST00000304494.5	-	1	413	c.143C>T	c.(142-144)cCg>cTg	p.P48L	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation). {ECO:0000269|PubMed:10651484}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1351	Whole gene deletion(1316)|Unknown(25)|Substitution - Missense(9)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(278)|skin(173)|central_nervous_system(163)|lung(148)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM970251	CDKN2A	M							76	90	85					9																	21974684		2203	4300	6503	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.143C>T	9.37:g.21974684G>A	ENSP00000307101:p.Pro48Leu		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.P48L	ENST00000304494.5	37	c.143	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355056	0.61293	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.94537	-3.45;-3.45	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.95903	0.8666	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.67900	0.574;0.954	D	0.95770	0.8808	9	0.87932	D	0	.	13.1018	0.59224	0.0:0.1617:0.8383:0.0	.	48;48	P42771;G3XAG3	CD2A1_HUMAN;.	L	48	ENSP00000307101:P48L;ENSP00000394932:P48L	ENSP00000307101:P48L	P	-	2	0	CDKN2A	21964684	0.979000	0.34478	0.971000	0.41717	0.119000	0.20118	4.091000	0.57700	2.681000	0.91329	0.655000	0.94253	CCG	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	22	0	G	NM_000077		21974684	-1	tier1	-	no_errors	ENST00000446177	ensembl	human	known	74_37	missense	61.11	7	11	SNP	0.960	A	A	21974684	G	A	21974684	3	1	63	1	0	0	0	0	1	0	0	0	3168	1116	39	1	540	1	CDKN2A	9	21974684	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		21974684	119238747	64	17666											
OR13C5	138799	genome.wustl.edu	37	chr9	107360878	107360878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtttgtcagtggcatccaAgtcatctgaattaagtgtct	11	14	9	7	0	4	1	2	1	2	0	5	1	5	1	1	1	0	2	1	1	4	2	rs141268591		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr9:107360878A>C	ENST00000374779.2	-	1	910	c.817T>G	c.(817-819)Ttg>Gtg	p.L273V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L273M(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGGCATCCAAGTCATCTGAA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											136	126	129					9																	107360878		2203	4300	6503	SO:0001583	missense	0				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.817T>G	9.37:g.107360878A>C	ENSP00000363911:p.Leu273Val		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L273V	ENST00000374779.2	37	c.817	CCDS35091.1	9	.	.	.	.	.	.	.	.	.	.	A	0.054	-1.241859	0.01493	.	.	ENSG00000255800	ENST00000374779	T	0.37235	1.21	3.14	-6.29	0.02013	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.12502	-1.0545	9	0.20519	T	0.43	.	1.7013	0.02873	0.1241:0.3406:0.1955:0.3397	.	273	Q8NGS8	O13C5_HUMAN	V	273	ENSP00000363911:L273V	ENSP00000363911:L273V	L	-	1	2	OR13C5	106400699	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.328000	0.07945	-3.187000	0.00220	0.347000	0.21830	TTG	OR13C5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255800		0.428	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	HGNC	protein_coding	OTTHUMT00000053479.2	-	0	88	0	A	NM_001004482		107360878	-1	tier1	-	no_errors	ENST00000374779	ensembl	human	known	74_37	missense	34.25	48	25	SNP	0.000	C	C	107360878	A	C	107360878	3	2	63	1	0	0	0	0	1	0	0	0	10976	69	3	4	141	4	OR13C5	9	107360878	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	85386194	107360878	33852553	65	17667											
REXO4	57109	genome.wustl.edu	37	chr9	136282883	136282883	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttgtttttcttccGagtgagcgtcttgacaggac	5	18	9	9	2	4	2	0	2	4	0	5	4	5	3	1	1	1	1	1	1	0	7			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr9:136282883G>T	ENST00000371942.3	-	1	281	c.82C>A	c.(82-84)Cgg>Agg	p.R28R	ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Silent_p.R28R|REXO4_ENST00000478037.1_5'UTR	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	28					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTTCTTCCGAGTGAGCGTC	0.612																																																	0													79	87	84					9																	136282883		2203	4300	6503	SO:0001819	synonymous_variant	0			AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"Xenopus prevents mitotic catatrophe 2 homolog", "XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.82C>A	9.37:g.136282883G>T			B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.R28	ENST00000371942.3	37	c.82	CCDS6969.1	9																																																																																			REXO4	-	NULL	ENSG00000148300		0.612	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO4	HGNC	protein_coding	OTTHUMT00000054899.1		0	51	0	G			136282883	-1			no_errors	ENST00000371942	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.277	T	T	136282883	G	T	136282883	2	4	63	1	0	0	0	0	0	0	0	1	13288	1057	37	2		2	REXO4	9	136282883	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	28922005	136282883	4930548	66	17668											
UBE2D1	7321	genome.wustl.edu	37	chr10	60121256	60121256	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcctttgtttgtttcagtGttccactggcaagccactat	7	16	7	11	0	1	0	1	0	0	0	3	0	3	0	3	1	1	4	3	1	2	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr10:60121256G>T	ENST00000373910.4	+	3	317	c.90G>T	c.(88-90)ttG>ttT	p.L30F		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	30					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TTGTTTCAGTGTTCCACTGGC	0.373																																																	0													95	95	95					10																	60121256		2203	4300	6503	SO:0001630	splice_region_variant	0			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"Ubiquitin-conjugating enzymes E2"	12474	protein-coding gene	gene with protein product		602961	"stimulator of Fe transport", "ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.89-1G>T	10.37:g.60121256G>T			A6NLF6|A8K786	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L30F	ENST00000373910.4	37	c.90	CCDS7252.1	10	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855961	0.71834	.	.	ENSG00000072401	ENST00000373910	T	0.47869	0.83	6.07	6.07	0.98685	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.065114	0.64402	D	0.000005	T	0.49423	0.1556	L	0.56769	1.78	0.80722	D	1	B	0.23377	0.084	B	0.22880	0.042	T	0.43893	-0.9363	10	0.72032	D	0.01	.	18.1531	0.89682	0.0:0.0:1.0:0.0	.	30	P51668	UB2D1_HUMAN	F	30	ENSP00000363019:L30F	ENSP00000363019:L30F	L	+	3	2	UBE2D1	59791262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.900000	0.87376	2.885000	0.99019	0.655000	0.94253	TTG	UBE2D1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000072401		0.373	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D1	HGNC	protein_coding	OTTHUMT00000048143.2		0	55	0	G	NM_003338	Missense_Mutation	60121256	1			no_errors	ENST00000373910	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	60121256	G	T	60121256	5	4	63	1	0	0	0	0	0	0	1	0	16897	1391	48	3	100	3	UBE2D1	10	60121256	Splice_Site	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		60121256	75413491	67	17669											
FAM13C	220965	genome.wustl.edu	37	chr10	61012695	61012695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacaggaaggtgagatgctgGatctgccaaagaaggttgtt	13	9	14	5	0	1	2	0	1	1	2	1	5	1	4	1	4	3	3	1	4	4	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr10:61012695G>T	ENST00000373868.2	-	12	1483	c.1396C>A	c.(1396-1398)Cca>Aca	p.P466T	FAM13C_ENST00000435852.2_Missense_Mutation_p.P466T|FAM13C_ENST00000277705.6_Missense_Mutation_p.P486T|FAM13C_ENST00000468840.2_Missense_Mutation_p.P383T|FAM13C_ENST00000419214.2_Missense_Mutation_p.P368T|FAM13C_ENST00000442566.3_Missense_Mutation_p.P487T|FAM13C_ENST00000373867.3_Missense_Mutation_p.P382T	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	466										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGAGATGCTGGATCTGCCAAA	0.468																																																	0													186	171	176					10																	61012695		2203	4300	6503	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1396C>A	10.37:g.61012695G>T	ENSP00000362975:p.Pro466Thr		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.P466T	ENST00000373868.2	37	c.1396	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102549	0.37145	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852	T;T;T;T;T	0.45668	0.97;0.93;0.89;0.96;0.91	5.72	2.85	0.33270	.	0.348829	0.27981	N	0.017065	T	0.42404	0.1201	M	0.64997	1.995	0.40852	D	0.983768	P;B;P;P	0.46859	0.702;0.191;0.885;0.743	B;B;P;B	0.44946	0.444;0.156;0.465;0.281	T	0.41910	-0.9482	10	0.52906	T	0.07	-0.4857	9.5609	0.39369	0.2304:0.0:0.7696:0.0	.	466;382;368;466	B7Z2K3;B7ZB77;Q8NE31-3;Q8NE31	.;.;.;FA13C_HUMAN	T	382;466;487;486;368;383;466	ENSP00000362975:P466T;ENSP00000395661:P487T;ENSP00000277705:P486T;ENSP00000391993:P368T;ENSP00000392302:P466T	ENSP00000277705:P486T	P	-	1	0	FAM13C	60682701	0.454000	0.25728	0.917000	0.36280	0.905000	0.53344	1.608000	0.36847	0.895000	0.36342	0.655000	0.94253	CCA	FAM13C	-	NULL	ENSG00000148541		0.468	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	-	0	99	0	G			61012695	-1	tier1	-	no_errors	ENST00000373868	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.945	T	T	61012695	G	T	61012695	3	4	63	1	0	0	0	0	1	0	0	0	5473	1174	41	3	373	3	FAM13C	10	61012695	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	891439	61012695	74522052	68	17670											
LSP1	4046	genome.wustl.edu	37	chr11	1901450	1901450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcggccgaagcaggagAtgctgtgagcagccccataa	11	4	14	12	3	0	2	0	1	0	1	0	5	0	2	4	2	5	3	4	2	2	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:1901450A>G	ENST00000311604.3	+	2	362	c.187A>G	c.(187-189)Atg>Gtg	p.M63V	LSP1_ENST00000381775.1_Missense_Mutation_p.M191V|LSP1_ENST00000405957.2_Start_Codon_SNP_p.M1V|LSP1_ENST00000406638.2_Start_Codon_SNP_p.M1V	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	63					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GAAGCAGGAGATGCTGTGAGC	0.677																																																	0													64	52	56					11																	1901450		2200	4299	6499	SO:0001583	missense	0			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.187A>G	11.37:g.1901450A>G	ENSP00000308383:p.Met63Val		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.M63V	ENST00000311604.3	37	c.187	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	5.521	0.281156	0.10458	.	.	ENSG00000130592	ENST00000311604;ENST00000421485;ENST00000446808;ENST00000381775;ENST00000405957;ENST00000451814;ENST00000457279;ENST00000429923;ENST00000406638;ENST00000418975;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T;T;T;T;T;T	0.42131	1.98;1.45;1.56;1.94;2.04;1.46;1.98;1.59;2.04;0.98;2.04;2.04	3.75	-0.669	0.11388	.	1.470830	0.05486	U	0.555730	T	0.22003	0.0530	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.01281	0.0;0.0	T	0.08166	-1.0735	10	0.28530	T	0.3	-1.2204	6.561	0.22485	0.6184:0.0:0.3816:0.0	.	191;63	E9PFP3;P33241	.;LSP1_HUMAN	V	63;1;1;191;1;1;54;46;1;81;1;1	ENSP00000308383:M63V;ENSP00000411191:M1V;ENSP00000402543:M1V;ENSP00000371194:M191V;ENSP00000383932:M1V;ENSP00000414106:M1V;ENSP00000400346:M54V;ENSP00000400999:M46V;ENSP00000384022:M1V;ENSP00000403460:M81V;ENSP00000416363:M1V;ENSP00000412405:M1V	ENSP00000308383:M63V	M	+	1	0	LSP1	1858026	0.000000	0.05858	0.030000	0.17652	0.041000	0.13682	-0.153000	0.10144	-0.201000	0.10284	0.402000	0.26972	ATG	LSP1	-	NULL	ENSG00000130592		0.677	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	-	0	131	0	A	NM_002339		1901450	1	tier1	-	no_errors	ENST00000311604	ensembl	human	known	74_37	missense	50.00	37	37	SNP	0.165	G	G	1901450	A	G	1901450	3	3	63	1	0	0	0	0	1	0	0	0	9098	333	12	4	193	4	LSP1	11	1901450	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09		1901450	133105066	69	17671											
OR56B1	387748	genome.wustl.edu	37	chr11	5757862	5757862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacactggctatctctgcCcctggcactactgtatctct	7	12	7	15	0	2	0	0	0	2	0	4	0	2	0	2	2	3	4	2	2	4	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:5757862C>A	ENST00000317121.3	+	1	182	c.116C>A	c.(115-117)cCc>cAc	p.P39H	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P39H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTATCTCTGCCCCTGGCACTA	0.493																																																	1	Substitution - Missense(1)	endometrium(1)											154	142	146					11																	5757862		2201	4297	6498	SO:0001583	missense	0			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.116C>A	11.37:g.5757862C>A	ENSP00000322939:p.Pro39His		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P39H	ENST00000317121.3	37	c.116	CCDS31395.1	11	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816763	0.32145	.	.	ENSG00000181023	ENST00000317121	T	0.02974	4.09	5.91	5.91	0.95273	.	0.000000	0.44483	U	0.000460	T	0.26557	0.0649	H	0.96239	3.79	0.27010	N	0.964701	D	0.89917	1.0	D	0.79108	0.992	T	0.40136	-0.9579	10	0.87932	D	0	-10.2689	17.7874	0.88542	0.0:1.0:0.0:0.0	.	39	Q8NGI3	O56B1_HUMAN	H	39	ENSP00000322939:P39H	ENSP00000322939:P39H	P	+	2	0	OR56B1	5714438	0.001000	0.12720	0.210000	0.23637	0.040000	0.13550	0.878000	0.28126	2.801000	0.96364	0.655000	0.94253	CCC	OR56B1	-	prints_GPCR_Rhodpsn	ENSG00000181023		0.493	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1	-	0	97	0	C	NM_001005180		5757862	1	tier1	-	no_errors	ENST00000317121	ensembl	human	known	74_37	missense	52.38	19	22	SNP	0.611	A	A	5757862	C	A	5757862	3	1	63	1	0	0	0	0	1	0	0	0	11176	623	22	3	118	3	OR56B1	11	5757862	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	3856412	5757862	129248654	70	17672											
CCKBR	887	genome.wustl.edu	37	chr11	6292639	6292639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgccaggcctgcctggaaActtgcgctcgctgctgcccc	4	9	11	17	3	0	0	0	0	0	0	2	1	0	1	5	2	5	3	5	2	1	2	rs76115904		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:6292639A>G	ENST00000334619.2	+	5	1403	c.1210A>G	c.(1210-1212)Act>Gct	p.T404A	CCKBR_ENST00000525462.1_Missense_Mutation_p.T473A|CCKBR_ENST00000532715.1_Missense_Mutation_p.T320A	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	404					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CTGCCTGGAAACTTGCGCTCG	0.627																																																	0								A	ALA/THR	0,4402		0,0,2201	75	68	70		1210	4.1	0.3	11	dbSNP_131	70	1,8591	1.2+/-3.3	0,1,4295	no	missense	CCKBR	NM_176875.2	58	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	404/448	6292639	1,12993	2201	4296	6497	SO:0001583	missense	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1210A>G	11.37:g.6292639A>G	ENSP00000335544:p.Thr404Ala		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.T473A	ENST00000334619.2	37	c.1417	CCDS7761.1	11	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589423	0.66105	0.0	1.16E-4	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.37235	1.21;1.21;1.21	5.24	4.12	0.48240	.	0.054162	0.64402	N	0.000001	T	0.48409	0.1498	L	0.54323	1.7	0.40792	D	0.983268	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.44787	-0.9305	10	0.12430	T	0.62	.	9.7015	0.40189	0.9174:0.0:0.0826:0.0	.	473;338;404	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	A	404;320;473	ENSP00000335544:T404A;ENSP00000432079:T320A;ENSP00000435534:T473A	ENSP00000335544:T404A	T	+	1	0	CCKBR	6249215	1.000000	0.71417	0.278000	0.24718	0.934000	0.57294	6.202000	0.72131	0.832000	0.34804	0.455000	0.32223	ACT	CCKBR	-	NULL	ENSG00000110148		0.627	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	-	0	23	0	A	NM_176875		6292639	1	tier1	rs76115904	no_errors	ENST00000525462	ensembl	human	known	74_37	missense	50.00	5	5	SNP	1.000	G	G	6292639	A	G	6292639	3	3	63	1	0	0	0	0	1	0	0	0	2888	43	2	4	1228	4	CCKBR	11	6292639	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	534777	6292639	128713877	71	17673											
PAMR1	25891	genome.wustl.edu	37	chr11	35515725	35515725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacgacttccctctttcCggggcagacgcactcaatct	8	9	7	17	3	3	1	1	0	2	1	5	2	5	1	3	2	0	2	3	2	1	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:35515725C>T	ENST00000378880.2	-	2	614	c.169G>A	c.(169-171)Gga>Aga	p.G57R	PAMR1_ENST00000532848.1_Missense_Mutation_p.G17R|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.G57R|PAMR1_ENST00000378878.3_Missense_Mutation_p.G57R	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	57	Cys-rich.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TCCCTCTTTCCGGGGCAGACG	0.512																																																	0													227	173	191					11																	35515725		2202	4298	6500	SO:0001583	missense	0				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.169G>A	11.37:g.35515725C>T	ENSP00000368158:p.Gly57Arg		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.G57R	ENST00000378880.2	37	c.169	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821600	0.50633	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.90324	-2.2;-2.21;-2.43;-2.18;-2.19;-2.65	4.72	4.72	0.59763	.	0.342524	0.29239	N	0.012740	D	0.90290	0.6963	N	0.14661	0.345	0.26539	N	0.974121	D;D;D	0.89917	0.999;1.0;0.999	P;P;P	0.62740	0.705;0.852;0.906	D	0.86045	0.1522	10	0.87932	D	0	.	17.6665	0.88203	0.0:1.0:0.0:0.0	.	57;57;57	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	R	57;57;57;17;17;57	ENSP00000278360:G57R;ENSP00000368158:G57R;ENSP00000368156:G57R;ENSP00000433868:G17R;ENSP00000432591:G17R;ENSP00000433024:G57R	ENSP00000278360:G57R	G	-	1	0	PAMR1	35472301	0.996000	0.38824	0.406000	0.26421	0.085000	0.17905	4.090000	0.57693	2.174000	0.68829	0.462000	0.41574	GGA	PAMR1	-	NULL	ENSG00000149090		0.512	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	-	0	43	0	C	NM_015430		35515725	-1	tier1	-	no_errors	ENST00000278360	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.931	T	T	35515725	C	T	35515725	3	4	63	1	0	0	0	0	1	0	0	0	11452	661	23	1	2088	1	PAMR1	11	35515725	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	29223086	35515725	99490791	72	17674											
CRY2	1408	genome.wustl.edu	37	chr11	45892001	45892001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggactacccacggcccatCgtcaaccatgccgagaccag	10	5	10	16	3	1	1	1	0	0	1	2	3	1	2	5	2	3	0	5	2	2	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:45892001C>T	ENST00000443527.2	+	9	1552	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	CRY2_ENST00000417225.2_Silent_p.I428I	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	489					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CACGGCCCATCGTCAACCATG	0.532																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												0													91	79	83					11																	45892001		2203	4299	6502	SO:0001819	synonymous_variant	0			AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"cryptochrome 2 (photolyase-like)"			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1530C>T	11.37:g.45892001C>T			B4DH32|B4DZD6|O75148|Q8IV71	Silent	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.I510	ENST00000443527.2	37	c.1530	CCDS7915.2	11																																																																																			CRY2	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000121671		0.532	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2	-	0	60	0	C	NM_021117		45892001	1	tier1	-	no_errors	ENST00000443527	ensembl	human	known	74_37	silent	70.00	9	21	SNP	0.998	T	T	45892001	C	T	45892001	2	4	63	1	0	0	0	0	0	0	0	1	3911	874	31	1		1	CRY2	11	45892001	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	10376276	45892001	89114515	73	17675											
OR4C12	283093	genome.wustl.edu	37	chr11	50003542	50003542	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgacattggggccacagaAgggcagccatactgtaaaga	14	7	12	8	0	0	3	0	1	0	2	0	3	0	3	2	3	2	2	2	3	5	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:50003542A>C	ENST00000335238.4	-	1	529	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GGGCCACAGAAGGGCAGCCAT	0.473																																																	0													110	114	112					11																	50003542		2201	4296	6497	SO:0001583	missense	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.496T>G	11.37:g.50003542A>C	ENSP00000334418:p.Phe166Val		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F166V	ENST00000335238.4	37	c.496	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	17.02	3.282594	0.59867	.	.	ENSG00000221954	ENST00000335238	T	0.00145	8.67	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	U	0.000474	T	0.00608	0.0020	H	0.95151	3.63	0.29156	N	0.878041	D	0.76494	0.999	D	0.80764	0.994	T	0.03463	-1.1034	10	0.87932	D	0	.	9.5014	0.39019	1.0:0.0:0.0:0.0	.	166	Q96R67	OR4CC_HUMAN	V	166	ENSP00000334418:F166V	ENSP00000334418:F166V	F	-	1	0	OR4C12	49960118	0.998000	0.40836	1.000000	0.80357	0.977000	0.68977	3.757000	0.55212	1.387000	0.46486	0.325000	0.21440	TTC	OR4C12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221954		0.473	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	-	0	60	0	A	NM_001005270		50003542	-1	tier1	-	no_errors	ENST00000335238	ensembl	human	known	74_37	missense	56.76	16	21	SNP	0.998	C	C	50003542	A	C	50003542	3	2	63	1	0	0	0	0	1	0	0	0	11085	72	3	4	437	4	OR4C12	11	50003542	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	4111541	50003542	85002974	74	17676											
CCDC82	79780	genome.wustl.edu	37	chr11	96098165	96098165	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttatcatgtgacatgaaAttatctatttgcatggtcct	10	18	7	6	0	2	2	1	2	1	0	3	2	3	2	1	1	1	2	1	1	4	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:96098165A>G	ENST00000278520.5	-	7	1787	c.1359T>C	c.(1357-1359)aaT>aaC	p.N453N	CCDC82_ENST00000542662.1_Silent_p.N453N|CCDC82_ENST00000423339.2_Silent_p.N453N			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	453										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTGACATGAAATTATCTATTT	0.328																																																	0													98	97	97					11																	96098165		2201	4298	6499	SO:0001819	synonymous_variant	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.1359T>C	11.37:g.96098165A>G			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	NULL	p.N453	ENST00000278520.5	37	c.1359	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.328	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	-	0	67	0	A	NM_024725		96098165	-1	tier1	-	no_errors	ENST00000278520	ensembl	human	known	74_37	silent	63.64	12	21	SNP	0.993	G	G	96098165	A	G	96098165	2	3	63	1	0	0	0	0	0	0	0	1	2863	98	4	4		4	CCDC82	11	96098165	Silent	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	46094623	96098165	38908351	75	17677											
MLL	4297	genome.wustl.edu	37	chr11	118352585	118352585	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagtgagcctcctccaCgaaagcccgtcgaggaaaag	12	5	12	12	3	0	1	0	1	0	0	3	4	2	2	4	1	2	2	4	1	4	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:118352585C>T	ENST00000389506.5	+	7	3790	c.3790C>T	c.(3790-3792)Cga>Tga	p.R1264*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1264*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R1264*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1264					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GCCTCCTCCACGAAAGCCCGT	0.542																																																	0													97	92	93					11																	118352585		2200	4296	6496	SO:0001587	stop_gained	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7132	protein-coding gene	gene with protein product		159555	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)", "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3790C>T	11.37:g.118352585C>T	ENSP00000374157:p.Arg1264*		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R1264*	ENST00000389506.5	37	c.3790	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	41	9.088119	0.99061	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	.	.	.	5.67	5.67	0.87782	.	0.172909	0.40554	N	0.001078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6086	0.68498	0.1457:0.8543:0.0:0.0	.	.	.	.	X	1264;1297;1264;1264;174;14	.	ENSP00000346516:R1264X	R	+	1	2	MLL	117857795	0.966000	0.33281	0.140000	0.22221	0.502000	0.33828	2.779000	0.47734	2.680000	0.91292	0.563000	0.77884	CGA	KMT2A	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.542	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2A	HGNC	protein_coding	OTTHUMT00000399085.2	-	0	20	0	C	NM_005933		118352585	1	tier1	-	no_errors	ENST00000389506	ensembl	human	known	74_37	nonsense	90.00	1	9	SNP	0.745	T	T	118352585	C	T	118352585	4	4	63	1	0	0	0	0	0	1	0	0	9658	528	19	1	3816	1	MLL	11	118352585	Nonsense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	22254420	118352585	16653931	76	17678											
NCAPD3	23310	genome.wustl.edu	37	chr11	134078847	134078848	+	Splice_Site	INS	-	-	A																															tttgcttggttaagagctctINSaaaaaaaaaagacgaaatat																								rs531031092	byFrequency	TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr11:134078847_134078848insA	ENST00000534548.2	-	7	859		c.e7-2			NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTAAGAGCTCTAAAAAAAAAAG	0.337																																																	0																																										SO:0001630	splice_region_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.795-2->T	11.37:g.134078857_134078857dupA			A6NFS2|Q4KMQ9	Splice_Site	INS	-	e7-2	ENST00000534548.2	37	c.795-3_795-2	CCDS31723.1	11																																																																																			NCAPD3	-	-	ENSG00000151503		0.337	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0	50	0	-	NM_015261	Intron	134078848	-1	tier1		no_errors	ENST00000534548	ensembl	human	known	74_37	splice_site_ins	10.00	27	3	INS	1.000:0.997	A	A	134078848	-	A	134078847	8	5	63	1	0	1	1	0	0	0	1	0	10245	1536	53	0	3819	0	NCAPD3	11	134078847	Splice_Site	INS	-	TCGA-L5-A4OP-01A-11D-A27G-09	15726262	134078847	927669	77	17679											
IQSEC3	440073	genome.wustl.edu	37	chr12	235008	235008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagcagcctgccctggCgacggcgctgtgcccccacg	4	4	14	19	5	0	0	0	0	0	0	0	1	0	0	5	3	4	3	5	3	0	0			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:235008C>T	ENST00000538872.1	+	3	951	c.833C>T	c.(832-834)gCg>gTg	p.A278V	IQSEC3_ENST00000326261.4_Missense_Mutation_p.A278V|IQSEC3_ENST00000382841.2_Intron			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	278					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCTGCCCTGGCGACGGCGCTG	0.716																																																	0													2	4	3					12																	235008		1173	2889	4062	SO:0001583	missense	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.833C>T	12.37:g.235008C>T	ENSP00000437554:p.Ala278Val		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.A278V	ENST00000538872.1	37	c.833	CCDS53728.1	12	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042226	0.55003	.	.	ENSG00000120645	ENST00000538872;ENST00000326261	T;T	0.76968	-1.06;-1.06	4.51	2.68	0.31781	.	6.292500	0.01888	U	0.038380	T	0.68128	0.2967	N	0.19112	0.55	0.28364	N	0.920338	.	.	.	.	.	.	T	0.59096	-0.7518	8	0.46703	T	0.11	.	6.104	0.20063	0.0:0.6095:0.2025:0.188	.	.	.	.	V	278	ENSP00000437554:A278V;ENSP00000315662:A278V	ENSP00000315662:A278V	A	+	2	0	IQSEC3	105269	1.000000	0.71417	0.654000	0.29608	0.776000	0.43924	2.224000	0.42945	0.604000	0.29930	0.555000	0.69702	GCG	IQSEC3	-	NULL	ENSG00000120645		0.716	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC3	HGNC	protein_coding	OTTHUMT00000397382.3		0	15	0	C	XM_495902		235008	1			no_errors	ENST00000326261	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.841	T	T	235008	C	T	235008	3	4	63	1	0	0	0	0	1	0	0	0	7846	768	27	1	843	1	IQSEC3	12	235008	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		235008	133616887	78	17680											
C1RL	51279	genome.wustl.edu	37	chr12	7254566	7254566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgaggaaggctgtgtgcGgaaggtcagccgcaaactcc	9	6	14	12	3	1	0	1	0	0	0	3	3	3	2	3	4	3	2	3	4	3	0			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:7254566G>A	ENST00000266542.4	-	3	510	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.R140C|C1RL_ENST00000544702.1_Missense_Mutation_p.R140C	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	140	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCTGTGTGCGGAAGGTCAGC	0.622																																																	0													118	108	111					12																	7254566		2203	4300	6503	SO:0001583	missense	0			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.418C>T	12.37:g.7254566G>A	ENSP00000266542:p.Arg140Cys		Q53GX9	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R140C	ENST00000266542.4	37	c.418	CCDS8573.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.842|5.842	0.339585|0.339585	0.11069|0.11069	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.30448	.|1.53;1.53;1.53;1.53	3.76|3.76	-0.133|-0.133	0.13485|0.13485	.|CUB (5);	.|1.399260	.|0.04433	.|N	.|0.369511	T|T	0.35799|0.35799	0.0944|0.0944	M|M	0.88640|0.88640	2.97|2.97	0.24098|0.24098	N|N	0.995883|0.995883	.|B;B;B	.|0.33919	.|0.432;0.038;0.285	.|B;B;B	.|0.27887	.|0.051;0.007;0.084	T|T	0.30268|0.30268	-0.9984|-0.9984	5|10	.|0.45353	.|T	.|0.12	.|.	3.3529|3.3529	0.07159|0.07159	0.2989:0.0:0.5228:0.1783|0.2989:0.0:0.5228:0.1783	.|.	.|140;140;140	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	L|C	39|140	.|ENSP00000266542:R140C;ENSP00000441885:R140C;ENSP00000437398:R140C;ENSP00000442611:R140C	.|ENSP00000266542:R140C	P|R	-|-	2|1	0|0	C1RL|C1RL	7145842|7145842	0.147000|0.147000	0.22687|0.22687	0.103000|0.103000	0.21229|0.21229	0.289000|0.289000	0.27227|0.27227	0.193000|0.193000	0.17116|0.17116	-0.034000|-0.034000	0.13713|0.13713	-1.529000|-1.529000	0.00923|0.00923	CCG|CGC	C1RL	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000139178		0.622	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	-	0	55	0	G	NM_016546		7254566	-1	tier1	-	no_errors	ENST00000266542	ensembl	human	known	74_37	missense	73.53	9	25	SNP	0.104	A	A	7254566	G	A	7254566	3	1	63	1	0	0	0	0	1	0	0	0	1980	1116	39	1	1061	1	C1RL	12	7254566	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	7019558	7254566	126597329	79	17681											
RERG	85004	genome.wustl.edu	37	chr12	15370380	15370380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgacttgcccacgcctGctctcccaaatattgccagt	8	11	6	16	1	1	1	0	1	1	0	2	1	1	1	5	0	4	1	5	0	3	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:15370380G>A	ENST00000256953.2	-	2	380	c.44C>T	c.(43-45)gCa>gTa	p.A15V	RERG_ENST00000536465.1_Missense_Mutation_p.A15V|RERG_ENST00000538313.1_Missense_Mutation_p.A15V|RERG_ENST00000537647.1_Missense_Mutation_p.A15V|RERG_ENST00000546331.1_Missense_Mutation_p.A15V	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	15					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCCACGCCTGCTCTCCCAAA	0.423																																																	0													289	239	256					12																	15370380		2203	4300	6503	SO:0001583	missense	0			AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.44C>T	12.37:g.15370380G>A	ENSP00000256953:p.Ala15Val		B2R9R0|B4DI02	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A15V	ENST00000256953.2	37	c.44	CCDS8673.1	12	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442950	0.43326	.	.	ENSG00000134533	ENST00000256953;ENST00000538313;ENST00000536465;ENST00000546331;ENST00000537647;ENST00000393736	T;T;T;T;T;T	0.79554	-1.08;-1.08;-1.08;-1.28;-1.08;-1.08	4.92	4.92	0.64577	Small GTP-binding protein domain (1);	0.060558	0.64402	D	0.000004	T	0.76241	0.3960	L	0.59436	1.845	0.58432	D	0.999999	B;B	0.32128	0.072;0.357	B;B	0.27608	0.022;0.081	T	0.78540	-0.2165	10	0.87932	D	0	.	13.496	0.61426	0.0:0.0:1.0:0.0	.	15;15	B4DI02;Q96A58	.;RERG_HUMAN	V	15	ENSP00000256953:A15V;ENSP00000441505:A15V;ENSP00000438280:A15V;ENSP00000444485:A15V;ENSP00000441860:A15V;ENSP00000440887:A15V	ENSP00000256953:A15V	A	-	2	0	RERG	15261647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.170000	0.71920	2.550000	0.86006	0.655000	0.94253	GCA	RERG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000134533		0.423	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERG	HGNC	protein_coding	OTTHUMT00000400882.1	-	0	130	0	G	NM_032918		15370380	-1	tier1	-	no_errors	ENST00000256953	ensembl	human	known	74_37	missense	61.97	27	44	SNP	1.000	A	A	15370380	G	A	15370380	3	1	63	1	0	0	0	0	1	0	0	0	13277	1319	46	3	571	3	RERG	12	15370380	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	8115814	15370380	118481515	80	17682											
NAV3	89795	genome.wustl.edu	37	chr12	78444891	78444891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgagtgatggtgatatccTtgggaaaagtctcaggactg	11	12	13	5	0	1	3	1	3	1	0	3	5	2	5	1	3	0	0	1	3	4	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:78444891T>C	ENST00000397909.2	+	11	2653	c.2480T>C	c.(2479-2481)cTt>cCt	p.L827P	NAV3_ENST00000536525.2_Missense_Mutation_p.L827P|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.L827P|NAV3_ENST00000266692.7_Missense_Mutation_p.L827P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	827						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGTGATATCCTTGGGAAAAGT	0.463										HNSCC(70;0.22)																																							0													70	69	70					12																	78444891		2066	4213	6279	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2480T>C	12.37:g.78444891T>C	ENSP00000381007:p.Leu827Pro		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L827P	ENST00000397909.2	37	c.2480		12	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409388	0.83340	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.53640	0.77;0.77;0.77;0.61	5.79	5.79	0.91817	.	0.000000	0.36338	U	0.002647	T	0.68696	0.3029	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;P;D	0.91635	0.943;0.804;0.999	T	0.72218	-0.4357	10	0.87932	D	0	-13.2412	16.1249	0.81386	0.0:0.0:0.0:1.0	.	827;827;827	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	P	827	ENSP00000446132:L827P;ENSP00000381007:L827P;ENSP00000228327:L827P;ENSP00000266692:L827P	ENSP00000228327:L827P	L	+	2	0	NAV3	76969022	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.635000	0.83286	2.208000	0.71279	0.533000	0.62120	CTT	NAV3	-	NULL	ENSG00000067798		0.463	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	80	0	T	NM_001024383		78444891	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	57.14	27	36	SNP	1.000	C	C	78444891	T	C	78444891	3	2	63	1	0	0	0	0	1	0	0	0	10223	1609	56	4	2522	4	NAV3	12	78444891	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	63074511	78444891	55407004	81	17683											
PPP1R12A	4659	genome.wustl.edu	37	chr12	80201093	80201093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtatatgaactacttgttCgcaaacttgaagaatctctg	12	15	7	7	1	1	3	0	2	1	1	3	3	1	3	0	0	3	3	0	0	7	7	rs202164787		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:80201093C>T	ENST00000450142.2	-	12	1834	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R523Q|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R523Q|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R523Q|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R436Q	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	523	Ser/Thr-rich.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						ACTACTTGTTCGCAAACTTGA	0.294																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,3568		0,0,1784	85	72	76		1568,1307,1568	4.5	1	12		76	1,8081		0,1,4040	yes	missense,missense,missense	PPP1R12A	NM_001143885.1,NM_001143886.1,NM_002480.2	43,43,43	0,1,5824	TT,TC,CC		0.0124,0.0,0.0086	probably-damaging,probably-damaging,probably-damaging	523/1031,436/944,523/1031	80201093	1,11649	1784	4041	5825	SO:0001583	missense	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7618	protein-coding gene	gene with protein product	"myosin phosphatase-targeting subunit 1", "myosin binding subunit"	602021	"protein phosphatase 1, regulatory (inhibitor) subunit 12A"	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1568G>A	12.37:g.80201093C>T	ENSP00000389168:p.Arg523Gln		B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R523Q	ENST00000450142.2	37	c.1568	CCDS44947.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.95|12.95	2.092429|2.092429	0.36952|0.36952	0.0|0.0	1.24E-4|1.24E-4	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	.|T;T;T;T;T;T;T	.|0.43294	.|1.33;1.33;1.35;1.35;1.24;1.23;0.95	5.4|5.4	4.51|4.51	0.55191|0.55191	.|.	.|0.287385	.|0.34110	.|N	.|0.004249	T|T	0.38268|0.38268	0.1034|0.1034	L|L	0.47716|0.47716	1.5|1.5	0.34705|0.34705	D|D	0.727102|0.727102	.|D;D;P;D	.|0.67145	.|0.996;0.996;0.487;0.993	.|P;P;B;P	.|0.50570	.|0.644;0.644;0.05;0.543	T|T	0.49995|0.49995	-0.8879|-0.8879	5|10	.|0.22706	.|T	.|0.39	.|.	4.7439|4.7439	0.13028|0.13028	0.1442:0.6146:0.1582:0.083|0.1442:0.6146:0.1582:0.083	.|.	.|523;523;523;523	.|F8W8Q6;O14974-2;O14974-3;O14974	.|.;.;.;MYPT1_HUMAN	K|Q	127|523;523;523;523;523;523;523;436;523;523;218	.|ENSP00000261207:R523Q;ENSP00000389168:R523Q;ENSP00000416769:R523Q;ENSP00000449514:R436Q;ENSP00000446855:R523Q;ENSP00000446816:R523Q;ENSP00000450061:R218Q	.|ENSP00000261207:R523Q	E|R	-|-	1|2	0|0	PPP1R12A|PPP1R12A	78725224|78725224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.899000|2.899000	0.48679|0.48679	1.274000|1.274000	0.44362|0.44362	-0.225000|-0.225000	0.12378|0.12378	GAA|CGA	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000058272		0.294	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	-	0	72	0	C	NM_002480		80201093	-1	tier1	rs202164787	no_errors	ENST00000261207	ensembl	human	known	74_37	missense	74.19	8	23	SNP	0.991	T	T	80201093	C	T	80201093	3	4	63	1	0	0	0	0	1	0	0	0	12396	884	31	1	1580	1	PPP1R12A	12	80201093	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	1756202	80201093	53650802	82	17684											
NFYB	4801	genome.wustl.edu	37	chr12	104517094	104517094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagaatatcttctccattGattgttttccgtttctcttg	8	19	6	8	1	3	2	0	1	3	1	6	3	4	2	2	0	0	2	2	0	3	8			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:104517094G>A	ENST00000240055.3	-	5	566	c.339C>T	c.(337-339)atC>atT	p.I113I	RNA5SP370_ENST00000362545.1_RNA|NFYB_ENST00000551727.1_Silent_p.I113I	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	113	B domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCTCCATTGATTGTTTTCC	0.348																																																	0													136	126	129					12																	104517094		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.339C>T	12.37:g.104517094G>A			A8K7B9|Q96IY8	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.I113	ENST00000240055.3	37	c.339	CCDS9098.1	12																																																																																			NFYB	-	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	ENSG00000120837		0.348	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	-	0	60	0	G			104517094	-1	tier1	-	no_errors	ENST00000240055	ensembl	human	known	74_37	silent	41.18	10	7	SNP	1.000	A	A	104517094	G	A	104517094	2	1	63	1	0	0	0	0	0	0	0	1	10429	1280	45	3		3	NFYB	12	104517094	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	24316001	104517094	29334801	83	17685											
ACACB	32	genome.wustl.edu	37	chr12	109629445	109629445	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggctttgaaggaactGtccatccgaggcgactttag	8	11	14	8	2	0	1	0	1	0	0	2	4	2	2	2	4	1	1	2	4	3	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:109629445G>T	ENST00000338432.7	+	14	2291	c.2172G>T	c.(2170-2172)ctG>ctT	p.L724L	ACACB_ENST00000377848.3_Silent_p.L724L|ACACB_ENST00000377854.5_Silent_p.L724L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	724	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGAAGGAACTGTCCATCCGAG	0.483																																																	0													179	161	167					12																	109629445		2203	4300	6503	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2172G>T	12.37:g.109629445G>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.L724	ENST00000338432.7	37	c.2172	CCDS31898.1	12																																																																																			ACACB	-	pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom	ENSG00000076555		0.483	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	80	0	G	NM_001093		109629445	1	tier1	-	no_errors	ENST00000338432	ensembl	human	known	74_37	silent	9.52	38	4	SNP	1.000	T	T	109629445	G	T	109629445	2	4	63	1	0	0	0	0	0	0	0	1	107	1364	48	3		3	ACACB	12	109629445	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	5112351	109629445	24222450	84	17686											
SH2B3	10019	genome.wustl.edu	37	chr12	111884777	111884777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagacatcatctttgaggTgggagacgagcagcagctga	12	7	14	8	1	2	4	1	2	1	2	2	7	2	4	0	2	3	3	0	2	0	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:111884777T>C	ENST00000341259.2	+	4	1223	c.866T>C	c.(865-867)gTg>gCg	p.V289A	SH2B3_ENST00000538307.1_Missense_Mutation_p.V87A	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	289	PH.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	ATCTTTGAGGTGGGAGACGAG	0.582																																																	0													92	80	84					12																	111884777		2203	4300	6503	SO:0001583	missense	0			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.866T>C	12.37:g.111884777T>C	ENSP00000345492:p.Val289Ala		B9EGG5|O95184	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_SH2,pfam_Pleckstrin_homology,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.V289A	ENST00000341259.2	37	c.866	CCDS9153.1	12	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751717	0.31046	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.15603	2.41;2.41	5.18	4.05	0.47172	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.225948	0.46758	D	0.000279	T	0.05547	0.0146	N	0.02247	-0.625	0.33398	D	0.576989	B;B;B	0.20550	0.004;0.009;0.046	B;B;B	0.31101	0.002;0.003;0.124	T	0.28554	-1.0040	10	0.10111	T	0.7	-45.3277	3.1502	0.06485	0.0:0.2799:0.0:0.7201	.	87;153;289	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	A	289;99;87	ENSP00000345492:V289A;ENSP00000440597:V87A	ENSP00000345492:V289A	V	+	2	0	SH2B3	110369160	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	2.525000	0.45598	1.961000	0.56991	0.379000	0.24179	GTG	SH2B3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology	ENSG00000111252		0.582	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2B3	HGNC	protein_coding	OTTHUMT00000404779.1	-	0	24	0	T	NM_005475		111884777	1	tier1	-	no_errors	ENST00000341259	ensembl	human	putative	74_37	missense	40.00	6	4	SNP	1.000	C	C	111884777	T	C	111884777	3	2	63	1	0	0	0	0	1	0	0	0	14274	1696	59	4	876	4	SH2B3	12	111884777	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	2255332	111884777	21967118	85	17687											
C12orf51	283450	genome.wustl.edu	37	chr12	112665918	112665918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttatttcagcaaggagccGaacgactgccatcacaggag	12	7	10	12	2	2	0	2	0	0	0	2	4	2	2	3	2	4	1	3	2	3	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr12:112665918G>A	ENST00000430131.2	-	42	6708	c.5563C>T	c.(5563-5565)Cgg>Tgg	p.R1855W	HECTD4_ENST00000377560.5_Missense_Mutation_p.R2105W|HECTD4_ENST00000550722.1_Missense_Mutation_p.R2131W			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1855					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCAAGGAGCCGAACGACTGCC	0.542																																																	0													120	117	118					12																	112665918		1996	4157	6153	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5563C>T	12.37:g.112665918G>A	ENSP00000404379:p.Arg1855Trp		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R2105W	ENST00000430131.2	37	c.6313		12	.	.	.	.	.	.	.	.	.	.	G	34	5.337613	0.95758	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.56941	0.43;0.44;0.43	6.03	6.03	0.97812	.	.	.	.	.	T	0.62575	0.2439	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65207	-0.6224	9	0.87932	D	0	.	19.5548	0.95338	0.0:0.0:1.0:0.0	.	1855	Q9Y4D8	K0614_HUMAN	W	2105;1855;2131	ENSP00000366783:R2105W;ENSP00000404379:R1855W;ENSP00000449784:R2131W	ENSP00000366783:R2105W	R	-	1	2	C12orf51	111150301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.399000	0.97285	2.854000	0.98071	0.655000	0.94253	CGG	HECTD4	-	NULL	ENSG00000173064		0.542	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	39	0	G	NM_173813		112665918	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	58.82	14	20	SNP	1.000	A	A	112665918	G	A	112665918	3	1	63	1	0	0	0	0	1	0	0	0	1701	1057	37	1	6563	1	C12orf51	12	112665918	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	781141	112665918	21185977	86	17688											
SACS	26278	genome.wustl.edu	37	chr13	23911144	23911144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattggtttataaccagatCaactgttggcttcttgagta	11	15	8	7	0	2	2	1	1	1	1	2	2	2	2	1	2	2	4	1	2	5	8			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr13:23911144C>A	ENST00000382292.3	-	9	7144	c.6871G>T	c.(6871-6873)Gat>Tat	p.D2291Y	SACS_ENST00000402364.1_Missense_Mutation_p.D1541Y|SACS_ENST00000382298.3_Missense_Mutation_p.D2291Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2291					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAACCAGATCAACTGTTGGC	0.363																																																	0													71	68	69					13																	23911144		2203	4299	6502	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6871G>T	13.37:g.23911144C>A	ENSP00000371729:p.Asp2291Tyr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.D2291Y	ENST00000382292.3	37	c.6871	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871699	0.33069	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.94138	-3.36;-3.36;-3.36	5.93	5.08	0.68730	.	0.354200	0.32753	N	0.005681	D	0.89139	0.6630	L	0.40543	1.245	0.32128	N	0.58716	B	0.26876	0.162	B	0.24541	0.054	D	0.89102	0.3490	10	0.87932	D	0	.	11.0146	0.47681	0.0:0.8473:0.0:0.1527	.	2291	Q9NZJ4	SACS_HUMAN	Y	2291;1541;2291	ENSP00000371729:D2291Y;ENSP00000385844:D1541Y;ENSP00000371735:D2291Y	ENSP00000371729:D2291Y	D	-	1	0	SACS	22809144	0.473000	0.25878	0.995000	0.50966	0.989000	0.77384	1.343000	0.33930	2.808000	0.96608	0.655000	0.94253	GAT	SACS	-	NULL	ENSG00000151835		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	94	0	C	NM_014363		23911144	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	23.29	56	17	SNP	0.951	A	A	23911144	C	A	23911144	3	1	63	1	0	0	0	0	1	0	0	0	13849	826	29	3	6872	3	SACS	13	23911144	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		23911144	91258734	87	17689											
NBEA	26960	genome.wustl.edu	37	chr13	35751233	35751233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgtgctgttgtctttcGggatgtggtaagttatacct	5	17	11	8	2	1	0	0	0	1	0	3	1	1	1	2	2	2	4	2	2	3	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr13:35751233G>A	ENST00000400445.3	+	28	5189	c.4655G>A	c.(4654-4656)cGg>cAg	p.R1552Q	NBEA_ENST00000540320.1_Missense_Mutation_p.R1552Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R1549Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R1552Q	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1552					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTTGTCTTTCGGGATGTGGTA	0.388																																																	0													147	128	134					13																	35751233		1878	4107	5985	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4655G>A	13.37:g.35751233G>A	ENSP00000383295:p.Arg1552Gln		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R1552Q	ENST00000400445.3	37	c.4655	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.148229	0.94603	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	M	0.73430	2.235	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.68943	0.788;0.961	T	0.82635	-0.0360	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1552;1549	Q8NFP9;Q5T321	NBEA_HUMAN;.	Q	1552;1552;1549;1552;211	ENSP00000440951:R1552Q;ENSP00000383295:R1552Q;ENSP00000369271:R1549Q;ENSP00000308534:R1552Q	ENSP00000308534:R1552Q	R	+	2	0	NBEA	34649233	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	9.718000	0.98758	2.941000	0.99782	0.655000	0.94253	CGG	NBEA	-	NULL	ENSG00000172915		0.388	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	84	0	G	NM_015678		35751233	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	51.47	33	35	SNP	1.000	A	A	35751233	G	A	35751233	3	1	63	1	0	0	0	0	1	0	0	0	10225	1116	39	1	4765	1	NBEA	13	35751233	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	11840089	35751233	79418645	88	17690											
SERPINA12	145264	genome.wustl.edu	37	chr14	94964544	94964544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgccagggttgtaaaagGccagcttcttgagcagctta	9	11	11	10	0	1	1	0	1	1	0	2	1	2	1	3	2	4	5	3	2	3	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr14:94964544G>A	ENST00000341228.2	-	3	986	c.191C>T	c.(190-192)gCc>gTc	p.A64V	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A64V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	64					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTTGTAAAAGGCCAGCTTCTT	0.537																																																	0													138	124	128					14																	94964544		2203	4300	6503	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.191C>T	14.37:g.94964544G>A	ENSP00000342109:p.Ala64Val			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A64V	ENST00000341228.2	37	c.191	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	G	4.493	0.091447	0.08632	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84944	-1.92;-1.92	5.45	2.62	0.31277	Serpin domain (3);	0.455646	0.20382	N	0.093422	T	0.76407	0.3983	L	0.37750	1.13	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.61729	-0.7003	10	0.28530	T	0.3	.	10.2234	0.43212	0.2191:0.0:0.7809:0.0	.	64	Q8IW75	SPA12_HUMAN	V	64	ENSP00000451738:A64V;ENSP00000342109:A64V	ENSP00000342109:A64V	A	-	2	0	SERPINA12	94034297	0.003000	0.15002	0.122000	0.21767	0.001000	0.01503	1.321000	0.33678	0.680000	0.31366	-0.137000	0.14449	GCC	SERPINA12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000165953		0.537	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	-	0	35	0	G	NM_173850		94964544	-1	tier1	-	no_errors	ENST00000341228	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.003	A	A	94964544	G	A	94964544	3	1	63	1	0	0	0	0	1	0	0	0	14134	1203	42	3	1069	3	SERPINA12	14	94964544	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		94964544	12384996	89	17691											
TECPR2	9895	genome.wustl.edu	37	chr14	102964034	102964034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactactggaagaaaattccCggcagcgtgtcgtgtttcac	10	10	11	10	3	1	1	1	0	0	1	3	3	2	2	1	2	2	2	1	2	4	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr14:102964034C>T	ENST00000359520.7	+	19	4285	c.4059C>T	c.(4057-4059)ccC>ccT	p.P1353P		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1353					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGAAAATTCCCGGCAGCGTGT	0.662																																																	0													10	13	12					14																	102964034		2191	4282	6473	SO:0001819	synonymous_variant	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.4059C>T	14.37:g.102964034C>T			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.P1353	ENST00000359520.7	37	c.4059	CCDS32162.1	14																																																																																			TECPR2	-	pfam_Beta-propeller_rpt_TECPR,smart_Beta-propeller_rpt_TECPR	ENSG00000196663		0.662	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2		0	14	0	C	NM_014844		102964034	1			no_errors	ENST00000359520	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.351	T	T	102964034	C	T	102964034	2	4	63	1	0	0	0	0	0	0	0	1	15791	639	23	1		1	TECPR2	14	102964034	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	7999490	102964034	4385506	90	17692											
PPP1R13B	23368	genome.wustl.edu	37	chr14	104251168	104251168	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttggggagtcctcgtgtcGaaggaaaaatttcacttctt	10	13	11	7	2	2	0	1	0	1	0	5	3	3	2	1	3	0	1	1	3	3	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr14:104251168G>A	ENST00000202556.9	-	3	523	c.241C>T	c.(241-243)Cga>Tga	p.R81*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	81					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R81*(2)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTCGTGTCGAAGGAAAAAT	0.393																																																	2	Substitution - Nonsense(2)	lung(2)											84	80	81					14																	104251168		1840	4087	5927	SO:0001587	stop_gained	0			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.241C>T	14.37:g.104251168G>A	ENSP00000202556:p.Arg81*		B2RMX5|O94870	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.R81*	ENST00000202556.9	37	c.241	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.059405	0.97246	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5333	0.95239	0.0:0.0:1.0:0.0	.	.	.	.	X	81;78;110	.	ENSP00000202556:R81X	R	-	1	2	PPP1R13B	103320921	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.130000	0.77235	2.720000	0.93068	0.563000	0.77884	CGA	PPP1R13B	-	NULL	ENSG00000088808		0.393	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	-	0	93	0	G	NM_015316		104251168	-1	tier1	-	no_errors	ENST00000202556	ensembl	human	known	74_37	nonsense	31.87	62	29	SNP	1.000	A	A	104251168	G	A	104251168	4	1	63	1	0	0	0	0	0	1	0	0	12399	1066	37	1	3091	1	PPP1R13B	14	104251168	Nonsense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	1287134	104251168	3098372	91	17693											
CYP19A1	1588	genome.wustl.edu	37	chr15	51510761	51510761	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttctcatactttttgtaTagccaagaaatcttaaagaa	15	14	5	7	0	2	2	1	0	2	2	3	3	2	2	1	0	2	1	1	0	8	7			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr15:51510761T>A	ENST00000396402.1	-	6	873	c.720A>T	c.(718-720)ctA>ctT	p.L240L	CYP19A1_ENST00000559878.1_Silent_p.L240L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.L240L|CYP19A1_ENST00000396404.4_Silent_p.L240L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	240					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	ACTTTTTGTATAGCCAAGAAA	0.348																																					Melanoma(142;1016 1807 39614 48966 51721)												0													77	77	77					15																	51510761		2196	4293	6489	SO:0001819	synonymous_variant	0			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"Cytochrome P450s"	2594	protein-coding gene	gene with protein product		107910	"cytochrome P450, subfamily XIX (aromatization of androgens)"	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.720A>T	15.37:g.51510761T>A			Q16731|Q3B764|Q58FA0|Q8IYJ7	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L240	ENST00000396402.1	37	c.720	CCDS10139.1	15																																																																																			CYP19A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000137869		0.348	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP19A1	HGNC	protein_coding	OTTHUMT00000254669.1		0	52	0	T			51510761	-1			no_errors	ENST00000260433	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.794	A	A	51510761	T	A	51510761	2	1	63	1	0	0	0	0	0	0	0	1	4157	1393	49	5		5	CYP19A1	15	51510761	Silent	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09		51510761	51020631	92	17694											
UNC13C	440279	genome.wustl.edu	37	chr15	54305554	54305554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacaatgccagttagaCgcaacagaaagagttcaagc	17	5	8	11	1	1	3	1	0	0	3	1	3	1	3	1	0	3	3	1	0	5	2	rs536918048		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr15:54305554C>T	ENST00000260323.11	+	1	454	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	UNC13C_ENST00000545554.1_Missense_Mutation_p.R152C|UNC13C_ENST00000537900.1_Missense_Mutation_p.R152C	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	152					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.R152C(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCCAGTTAGACGCAACAGAAA	0.468													C|||	1	0.000199681	0	0	5008	,	,		20857	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(2)											87	87	87					15																	54305554		2020	4188	6208	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.454C>T	15.37:g.54305554C>T	ENSP00000260323:p.Arg152Cys		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R152C	ENST00000260323.11	37	c.454	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	C	15.54	2.864614	0.51482	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.83673	-1.75;-1.75;-1.75	5.16	5.16	0.70880	.	.	.	.	.	D	0.86957	0.6058	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.73708	0.981	D	0.88664	0.3191	9	0.87932	D	0	.	17.6434	0.88143	0.0:1.0:0.0:0.0	.	152	Q8NB66	UN13C_HUMAN	C	152	ENSP00000260323:R152C;ENSP00000438156:R152C;ENSP00000442569:R152C	ENSP00000260323:R152C	R	+	1	0	UNC13C	52092846	1.000000	0.71417	0.522000	0.27862	0.365000	0.29674	4.576000	0.60915	2.394000	0.81467	0.655000	0.94253	CGC	UNC13C	-	NULL	ENSG00000137766		0.468	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	19	0	C	NM_173166		54305554	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	54305554	C	T	54305554	3	4	63	1	0	0	0	0	1	0	0	0	17035	536	19	1	456	1	UNC13C	15	54305554	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	2794793	54305554	48225838	93	17695											
PSTPIP1	9051	genome.wustl.edu	37	chr15	77320223	77320223	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaccgggtccagaagAgcaagctgtcgctctacaag	11	7	12	11	2	2	2	1	0	1	2	4	3	3	3	2	2	3	3	2	2	4	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr15:77320223A>T	ENST00000558012.1	+	6	874	c.385A>T	c.(385-387)Agc>Tgc	p.S129C	PSTPIP1_ENST00000559295.1_Missense_Mutation_p.S129C|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.S128C|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.S129C	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	129					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGTCCAGAAGAGCAAGCTGTC	0.677																																																	0													21	26	24					15																	77320223		2024	4144	6168	SO:0001583	missense	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.385A>T	15.37:g.77320223A>T	ENSP00000452746:p.Ser129Cys		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.S194C	ENST00000558012.1	37	c.580	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	A	18.59	3.657588	0.67586	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.44881	0.91;2.5	4.2	4.2	0.49525	Prismane-like (1);	0.232551	0.47093	D	0.000254	T	0.45256	0.1333	M	0.63428	1.95	0.41460	D	0.988037	D;B;B;P	0.55800	0.973;0.352;0.35;0.533	P;B;B;B	0.46479	0.518;0.361;0.198;0.198	T	0.49331	-0.8951	10	0.48119	T	0.1	-14.2469	12.2826	0.54774	1.0:0.0:0.0:0.0	.	7;129;128;129	B4DQC0;O43586-2;C9K004;O43586	.;.;.;PPIP1_HUMAN	C	129;128	ENSP00000368914:S129C;ENSP00000267939:S128C	ENSP00000267939:S128C	S	+	1	0	PSTPIP1	75107278	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.483000	0.81158	1.545000	0.49373	0.379000	0.24179	AGC	PSTPIP1	-	superfamily_Prismane-like	ENSG00000140368		0.677	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	-	0	71	0	A	NM_003978		77320223	1	tier1	-	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	16.22	61	12	SNP	1.000	T	T	77320223	A	T	77320223	3	4	63	1	0	0	0	0	1	0	0	0	12763	304	11	5	407	5	PSTPIP1	15	77320223	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	23014669	77320223	25211169	94	17696											
AP3B2	8120	genome.wustl.edu	37	chr15	83358148	83358148	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgccacaatcctcttcatGgcctccagcttgagagaatc	10	9	7	15	1	2	2	1	1	1	1	5	3	4	2	5	1	1	1	5	1	2	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr15:83358148G>T	ENST00000261722.3	-	2	378	c.171C>A	c.(169-171)gcC>gcA	p.A57A	AP3B2_ENST00000542200.1_Silent_p.A57A|AP3B2_ENST00000535359.1_Silent_p.A57A|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.A57A|AP3B2_ENST00000561455.1_5'UTR	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	57					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCCTCTTCATGGCCTCCAGCT	0.592																																																	0													64	61	62					15																	83358148		2008	4178	6186	SO:0001819	synonymous_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.171C>A	15.37:g.83358148G>T			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.A57	ENST00000261722.3	37	c.171	CCDS45331.1	15																																																																																			AP3B2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	ENSG00000103723		0.592	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0	51	0	G			83358148	-1			no_errors	ENST00000261722	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	83358148	G	T	83358148	2	4	63	1	0	0	0	0	0	0	0	1	745	1335	47	3		3	AP3B2	15	83358148	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	6037925	83358148	19173244	95	17697											
RHCG	51458	genome.wustl.edu	37	chr15	90021169	90021169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagcagcggtacccacggCcacccctcctgcgagcgtgg	6	5	12	18	4	1	0	1	0	0	0	2	1	2	0	5	3	5	2	5	3	1	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr15:90021169C>T	ENST00000268122.4	-	6	942	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	RHCG_ENST00000544600.1_Missense_Mutation_p.A292T	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	292					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GTACCCACGGCCACCCCTCCT	0.622																																																	0													56	54	55					15																	90021169		2200	4299	6499	SO:0001583	missense	0			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.874G>A	15.37:g.90021169C>T	ENSP00000268122:p.Ala292Thr		A8K4D4|Q6X3Y4	Nonsense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.W226*	ENST00000268122.4	37	c.678	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.016448	0.97205	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.50813	0.73;0.73	6.08	6.08	0.98989	Ammonium transporter AmtB-like (3);	0.188103	0.56097	D	0.000028	T	0.73442	0.3587	M	0.90650	3.135	0.80722	D	1	D;D	0.55385	0.971;0.971	P;P	0.58577	0.841;0.841	T	0.76408	-0.2970	9	.	.	.	-8.0202	20.6634	0.99662	0.0:1.0:0.0:0.0	.	292;292	A8K4D4;Q9UBD6	.;RHCG_HUMAN	T	292;292;283	ENSP00000438123:A292T;ENSP00000268122:A292T	.	A	-	1	0	RHCG	87822173	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.778000	0.85637	2.894000	0.99253	0.655000	0.94253	GCC	RHCG	-	NULL	ENSG00000140519		0.622	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	-	0	33	0	C	NM_016321		90021169	-1	tier1	-	no_errors	ENST00000558030	ensembl	human	known	74_37	nonsense	56.76	16	21	SNP	1.000	T	T	90021169	C	T	90021169	3	4	63	1	0	0	0	0	1	0	0	0	13371	739	26	3	585	3	RHCG	15	90021169	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	6663021	90021169	12510223	96	17698											
SEMA4B	10519	genome.wustl.edu	37	chr15	90771824	90771824	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggaggtatccccagtgtgCccccggccccgggtccgcct	3	7	14	17	3	0	0	0	0	0	0	2	1	2	1	8	4	1	1	8	4	1	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr15:90771824C>T	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000411539.2_Silent_p.C821C|SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Silent_p.C821C	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.C821fs*>1(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCCAGTGTGCCCCCGGCCCC	0.632																																																	1	Deletion - Frameshift(1)	breast(1)											32	38	36					15																	90771824		2074	4189	6263	SO:0001628	intergenic_variant	0			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771824C>T			B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.C821	ENST00000328649.6	37	c.2463	CCDS10360.1	15																																																																																			SEMA4B	-	NULL	ENSG00000185033		0.632	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1		0	53	0	C			90771824	1			no_errors	ENST00000332496	ensembl	human	known	74_37	silent	5.77	49	3	SNP	1.000	T	T	90771824	C	T	90771824	1	4	63	0	1	0	0	0	0	0	0	0	14077	747	26	3		3	SEMA4B	15	90771824	IGR	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	750655	90771824	11759568	97	17699											
WFIKKN1	117166	genome.wustl.edu	37	chr16	682590	682590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccatccccaggactgtgcGgctgctgagaagtgctgcat	7	8	12	14	1	0	1	0	1	0	1	1	3	1	2	4	2	4	4	4	2	1	0	rs568979205		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:682590G>A	ENST00000319070.2	+	2	502	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	60	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGGACTGTGCGGCTGCTGAGA	0.706													g|||	1	0.000199681	0	0	5008	,	,		15364	0.001		0	False		,,,				2504	0																0													23	24	24					16																	682590		2173	4291	6464	SO:0001819	synonymous_variant	0			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.180G>A	16.37:g.682590G>A			Q7LDW0|Q8NBQ1|Q96S20	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.A60	ENST00000319070.2	37	c.180	CCDS10414.1	16																																																																																			WFIKKN1	-	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core	ENSG00000127578		0.706	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	-	0	88	0	G	NM_053284		682590	1	tier1	-	no_errors	ENST00000319070	ensembl	human	known	74_37	silent	26.76	52	19	SNP	0.000	A	A	682590	G	A	682590	2	1	63	1	0	0	0	0	0	0	0	1	17407	1103	39	1		1	WFIKKN1	16	682590	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		682590	89672163	98	17700											
CACNA1H	8912	genome.wustl.edu	37	chr16	1256186	1256186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtgctgaagctggtgCgctttctgccagccctgcgg	3	11	15	12	3	1	1	0	1	1	0	1	1	1	1	2	2	7	3	2	2	1	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:1256186C>T	ENST00000348261.5	+	12	2934	c.2686C>T	c.(2686-2688)Cgc>Tgc	p.R896C	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R896C|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R896C|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	896					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GAAGCTGGTGCGCTTTCTGCC	0.632																																																	0													33	40	38					16																	1256186		2129	4227	6356	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2686C>T	16.37:g.1256186C>T	ENSP00000334198:p.Arg896Cys		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R896C	ENST00000348261.5	37	c.2686	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124628	0.77436	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98792	-5.14;-5.14	3.96	2.94	0.34122	Ion transport (1);	0.063428	0.64402	D	0.000004	D	0.99342	0.9769	H	0.96720	3.87	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98122	1.0426	10	0.87932	D	0	.	12.0548	0.53529	0.1719:0.8281:0.0:0.0	.	896;896	O95180-2;O95180	.;CAC1H_HUMAN	C	896	ENSP00000334198:R896C;ENSP00000351401:R896C	ENSP00000334198:R896C	R	+	1	0	CACNA1H	1196187	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	4.370000	0.59517	2.050000	0.60909	0.561000	0.74099	CGC	CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.632	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	88	0	C	NM_001005407		1256186	1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	42.42	38	28	SNP	1.000	T	T	1256186	C	T	1256186	3	4	63	1	0	0	0	0	1	0	0	0	2552	768	27	1	2728	1	CACNA1H	16	1256186	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	573596	1256186	89098567	99	17701											
MVP	9961	genome.wustl.edu	37	chr16	29857512	29857512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgggactgccaaggcGgaggccgagtcccgtgcgga	8	3	17	13	5	0	0	0	0	0	0	1	4	1	3	4	5	3	1	4	5	1	0			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:29857512G>A	ENST00000357402.5	+	13	2310	c.2172G>A	c.(2170-2172)gcG>gcA	p.A724A	MVP_ENST00000395353.1_Silent_p.A724A	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	724					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CTGCCAAGGCGGAGGCCGAGT	0.647																																																	0																																										SO:0001819	synonymous_variant	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2172G>A	16.37:g.29857512G>A			Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.A724	ENST00000357402.5	37	c.2172	CCDS10656.1	16																																																																																			MVP	-	NULL	ENSG00000013364		0.647	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0	57	0	G	NM_005115		29857512	1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	silent	36.21	37	21	SNP	0.000	A	A	29857512	G	A	29857512	2	1	63	1	0	0	0	0	0	0	0	1	10034	1103	39	1		1	MVP	16	29857512	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	28601326	29857512	60497241	100	17702											
FUS	2521	genome.wustl.edu	37	chr16	31201636	31201636	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaggtggtggcagtggTggtggtggccgaggaggatt	6	10	22	3	1	0	0	0	0	0	0	0	4	0	3	1	10	0	1	1	10	1	2	rs141251217		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:31201636T>A	ENST00000254108.7	+	12	1314	c.1209T>A	c.(1207-1209)ggT>ggA	p.G403G	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G402G|FUS_ENST00000568685.1_Silent_p.G404G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	403	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		gtggcagtggtggtggtggcc	0.552			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																			Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0													151	109	123					16																	31201636		2197	4300	6497	SO:0001819	synonymous_variant	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1209T>A	16.37:g.31201636T>A			Q9H4A8	Silent	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G403	ENST00000254108.7	37	c.1209	CCDS10707.1	16																																																																																			FUS	-	NULL	ENSG00000089280		0.552	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2		0	59	0	T	NM_004960		31201636	1			no_errors	ENST00000254108	ensembl	human	known	74_37	silent	12.20	35	5	SNP	0.984	A	A	31201636	T	A	31201636	2	1	63	1	0	0	0	0	0	0	0	1	6124	1683	59	5		5	FUS	16	31201636	Silent	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	1344124	31201636	59153117	101	17703											
SALL1	6299	genome.wustl.edu	37	chr16	51171261	51171261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctcgttggccttcatcGccagcccgttggagagcgct	6	10	12	13	4	2	2	1	0	1	2	4	3	2	2	3	2	2	3	3	2	0	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:51171261G>A	ENST00000251020.4	-	3	3770	c.3737C>T	c.(3736-3738)gCg>gTg	p.A1246V	SALL1_ENST00000440970.1_Missense_Mutation_p.A1149V|SALL1_ENST00000541611.1_Missense_Mutation_p.A69V|SALL1_ENST00000566102.1_3'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1246					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCCTTCATCGCCAGCCCGTT	0.557																																					GBM(103;1352 1446 1855 4775 8890)												0													79	71	74					16																	51171261		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3737C>T	16.37:g.51171261G>A	ENSP00000251020:p.Ala1246Val		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1246V	ENST00000251020.4	37	c.3737	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284858	0.80803	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.56776	0.44;0.44;0.44	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.62723	1.935	0.80722	D	1	D;D	0.62365	0.983;0.991	P;P	0.46237	0.485;0.508	T	0.53236	-0.8467	10	0.18276	T	0.48	.	19.4677	0.94950	0.0:0.0:1.0:0.0	.	1246;69	Q9NSC2;F5H733	SALL1_HUMAN;.	V	1246;1149;1210;69	ENSP00000251020:A1246V;ENSP00000407914:A1149V;ENSP00000442827:A69V	ENSP00000251020:A1246V	A	-	2	0	SALL1	49728762	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	8.011000	0.88624	2.603000	0.88011	0.643000	0.83706	GCG	SALL1	-	NULL	ENSG00000103449		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	47	0	G	NM_002968		51171261	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	A	A	51171261	G	A	51171261	3	1	63	1	0	0	0	0	1	0	0	0	13855	1087	38	1	241	1	SALL1	16	51171261	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	19969625	51171261	39183492	102	17704											
CCDC135	84229	genome.wustl.edu	37	chr16	57735908	57735908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaggggaactgctttgacTtcagtacgctgctctgctcc	8	11	11	11	1	2	2	1	1	1	1	3	3	3	3	1	2	5	5	1	2	3	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:57735908T>C	ENST00000360716.3	+	6	786	c.565T>C	c.(565-567)Ttc>Ctc	p.F189L	CCDC135_ENST00000394337.4_Missense_Mutation_p.F189L|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Intron			Q8IY82	CC135_HUMAN		189					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGCTTTGACTTCAGTACGCT	0.602																																																	0													174	131	146					16																	57735908		2198	4300	6498	SO:0001583	missense	0																														ENST00000360716.3:c.565T>C	16.37:g.57735908T>C	ENSP00000353942:p.Phe189Leu		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.F189L	ENST00000360716.3	37	c.565	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194152	0.78902	.	.	ENSG00000159625	ENST00000394337;ENST00000360716	T;T	0.25912	1.77;1.77	5.09	5.09	0.68999	.	0.246322	0.41605	D	0.000855	T	0.31827	0.0809	L	0.39085	1.19	0.80722	D	1	D	0.63046	0.992	P	0.56398	0.797	T	0.03166	-1.1065	10	0.14656	T	0.56	-37.8956	14.0499	0.64730	0.0:0.0:0.0:1.0	.	189	Q8IY82	CC135_HUMAN	L	189	ENSP00000377869:F189L;ENSP00000353942:F189L	ENSP00000353942:F189L	F	+	1	0	CCDC135	56293409	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	3.597000	0.54031	1.912000	0.55364	0.366000	0.22137	TTC	CCDC135	-	NULL	ENSG00000159625		0.602	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2		0	53	0	T			57735908	1			no_errors	ENST00000360716	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C	C	57735908	T	C	57735908	3	2	63	1	0	0	0	0	1	0	0	0	2776	1609	56	4	579	4	CCDC135	16	57735908	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	6564647	57735908	32618845	103	17705											
CDH11	1009	genome.wustl.edu	37	chr16	65006915	65006915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	attaatagtgaaaaatctgtCgaggtcagtgtgacgatcga	14	11	11	5	3	2	2	1	2	1	0	4	5	2	2	0	1	0	0	0	1	4	2	rs551918062		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:65006915C>G	ENST00000268603.4	-	9	1897	c.1282G>C	c.(1282-1284)Gac>Cac	p.D428H	CDH11_ENST00000394156.3_Missense_Mutation_p.D428H|CDH11_ENST00000566827.1_Missense_Mutation_p.D302H	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	428	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AAAAATCTGTCGAGGTCAGTG	0.393			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													76	77	77					16																	65006915		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1282G>C	16.37:g.65006915C>G	ENSP00000268603:p.Asp428His		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D428H	ENST00000268603.4	37	c.1282	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520953	0.85495	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.54279	0.58;0.58	5.14	5.14	0.70334	Cadherin (4);Cadherin-like (1);	0.147170	0.64402	D	0.000012	T	0.68384	0.2995	M	0.78344	2.41	0.58432	D	0.999998	D;P	0.58620	0.983;0.746	P;P	0.54346	0.71;0.749	T	0.73914	-0.3832	10	0.87932	D	0	.	17.9587	0.89078	0.0:1.0:0.0:0.0	.	428;428	P55287-2;P55287	.;CAD11_HUMAN	H	428;428;411	ENSP00000268603:D428H;ENSP00000377711:D428H	ENSP00000268603:D428H	D	-	1	0	CDH11	63564416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.573000	0.86826	0.655000	0.94253	GAC	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.393	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	28	0	C	NM_033664		65006915	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	G	G	65006915	C	G	65006915	3	3	63	1	0	0	0	0	1	0	0	0	3104	884	31	5	1128	5	CDH11	16	65006915	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	7271007	65006915	25347838	104	17706											
THAP11	57215	genome.wustl.edu	37	chr16	67876687	67876687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctacacggtacgcgtccCcaccatcttcccgctgcgcg	6	7	9	19	6	1	0	0	0	1	0	3	1	3	0	5	1	3	2	5	1	2	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr16:67876687C>T	ENST00000303596.1	+	1	475	c.230C>T	c.(229-231)cCc>cTc	p.P77L	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	77					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTACGCGTCCCCACCATCTTC	0.692																																																	0													28	26	27					16																	67876687		2197	4300	6497	SO:0001583	missense	0			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.230C>T	16.37:g.67876687C>T	ENSP00000304689:p.Pro77Leu		A4UCT5|A8K002|O94795	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P77L	ENST00000303596.1	37	c.230	CCDS10847.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154726	0.78114	.	.	ENSG00000168286	ENST00000303596	D	0.99741	-6.6	5.4	5.4	0.78164	Zinc finger, C2CH-type (3);	0.000000	0.85682	D	0.000000	D	0.99816	0.9919	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97090	0.9790	10	0.87932	D	0	1.3692	19.1299	0.93400	0.0:1.0:0.0:0.0	.	77	Q96EK4	THA11_HUMAN	L	77	ENSP00000304689:P77L	ENSP00000304689:P77L	P	+	2	0	THAP11	66434188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.986000	0.76200	2.687000	0.91594	0.563000	0.77884	CCC	THAP11	-	smart_Znf_C2CH,pfscan_Znf_C2CH	ENSG00000168286		0.692	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	HGNC	protein_coding	OTTHUMT00000268879.1	-	0	41	0	C	NM_020457		67876687	1	tier1	-	no_errors	ENST00000303596	ensembl	human	known	74_37	missense	11.32	47	6	SNP	1.000	T	T	67876687	C	T	67876687	3	4	63	1	0	0	0	0	1	0	0	0	15890	623	22	3	232	3	THAP11	16	67876687	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	2869772	67876687	22478066	105	17707											
TP53	7157	genome.wustl.edu	37	chr17	7577563	7577563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccgcccatgcaggaacTgttacacatgtagttgtagt	10	11	10	10	1	0	0	0	0	0	0	0	1	0	1	2	1	4	5	2	1	4	4	rs397516437		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr17:7577563T>A	ENST00000269305.4	-	7	907	c.718A>T	c.(718-720)Agt>Tgt	p.S240C	TP53_ENST00000455263.2_Missense_Mutation_p.S240C|TP53_ENST00000420246.2_Missense_Mutation_p.S240C|TP53_ENST00000445888.2_Missense_Mutation_p.S240C|TP53_ENST00000413465.2_Missense_Mutation_p.S240C|TP53_ENST00000359597.4_Missense_Mutation_p.S240C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	240	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S240G(14)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.M237_N239delMCN(3)|p.S240C(3)|p.N239_S240insX(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.H233_C242del10(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.S240R(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S240fs*23(1)|p.N239_C242>S(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGCAGGAACTGTTACACATG	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	58	Substitution - Missense(19)|Deletion - In frame(13)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - insertion inframe(1)|Complex - deletion inframe(1)	large_intestine(7)|ovary(6)|bone(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|oesophagus(5)|breast(5)|soft_tissue(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|urinary_tract(2)|lung(2)|prostate(1)|pancreas(1)											137	106	117					17																	7577563		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.718A>T	17.37:g.7577563T>A	ENSP00000269305:p.Ser240Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S240C	ENST00000269305.4	37	c.718	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	18.48	3.632928	0.67015	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.90425	3.115	0.48571	D	0.999671	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0;1.0	D	0.96799	0.9588	10	0.87932	D	0	-29.1547	12.3101	0.54924	0.0:0.0:0.0:1.0	.	240;240;147;240;240;240	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	240;240;240;240;240;240;229;147;108;147	ENSP00000410739:S240C;ENSP00000352610:S240C;ENSP00000269305:S240C;ENSP00000398846:S240C;ENSP00000391127:S240C;ENSP00000391478:S240C;ENSP00000425104:S108C;ENSP00000423862:S147C	ENSP00000269305:S240C	S	-	1	0	TP53	7518288	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.479000	0.45197	2.074000	0.62210	0.379000	0.24179	AGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	313	0	T	NM_000546		7577563	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	13.89	93	15	SNP	1.000	A	A	7577563	T	A	7577563	3	1	63	1	0	0	0	0	1	0	0	0	16429	1580	55	5	572	5	TP53	17	7577563	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09		7577563	73617647	106	17708											
DNAH9	1770	genome.wustl.edu	37	chr17	11607686	11607686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctccaagggagaccGgcagaagattatgactatat	13	8	10	10	1	1	4	0	1	1	3	2	5	1	4	3	2	1	2	3	2	5	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr17:11607686G>A	ENST00000262442.4	+	25	5386	c.5318G>A	c.(5317-5319)cGg>cAg	p.R1773Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1773Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1773	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGGGAGACCGGCAGAAGATT	0.512																																																	0													98	93	94					17																	11607686		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5318G>A	17.37:g.11607686G>A	ENSP00000262442:p.Arg1773Gln		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1773Q	ENST00000262442.4	37	c.5318	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.737021	0.96865	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.38722	1.18;1.12	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.79137	0.4395	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85771	0.1355	10	0.87932	D	0	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	1773	Q9NYC9	DYH9_HUMAN	Q	1773;1773;355	ENSP00000262442:R1773Q;ENSP00000414874:R1773Q	ENSP00000262442:R1773Q	R	+	2	0	DNAH9	11548411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.813000	0.96785	0.655000	0.94253	CGG	DNAH9	-	NULL	ENSG00000007174		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	33	0	G	NM_001372		11607686	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	58.33	10	14	SNP	1.000	A	A	11607686	G	A	11607686	3	1	63	1	0	0	0	0	1	0	0	0	4622	1116	39	1	5416	1	DNAH9	17	11607686	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	4030123	11607686	69587524	107	17709											
MYO15A	51168	genome.wustl.edu	37	chr17	18036644	18036644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaggaccaggacagcatcTtccgcatcctggcctccatc	8	8	10	15	1	1	1	0	1	1	0	5	3	4	3	5	3	1	2	5	3	0	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr17:18036644T>C	ENST00000205890.5	+	12	4764	c.4426T>C	c.(4426-4428)Ttc>Ctc	p.F1476L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1476	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGACAGCATCTTCCGCATCCT	0.597																																																	0													52	57	56					17																	18036644		2105	4225	6330	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4426T>C	17.37:g.18036644T>C	ENSP00000205890:p.Phe1476Leu		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.F1476L	ENST00000205890.5	37	c.4426	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434310	0.83776	.	.	ENSG00000091536	ENST00000205890	D	0.95554	-3.74	5.79	5.79	0.91817	Myosin head, motor domain (2);	.	.	.	.	D	0.96571	0.8881	L	0.49455	1.56	0.80722	D	1	D	0.71674	0.998	D	0.67548	0.952	D	0.96651	0.9481	9	0.51188	T	0.08	.	16.1224	0.81369	0.0:0.0:0.0:1.0	.	1476	Q9UKN7	MYO15_HUMAN	L	1476	ENSP00000205890:F1476L	ENSP00000205890:F1476L	F	+	1	0	MYO15A	17977369	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.978000	0.88095	2.208000	0.71279	0.533000	0.62120	TTC	MYO15A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000091536		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	35	0	T	NM_016239		18036644	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	50.00	9	9	SNP	1.000	C	C	18036644	T	C	18036644	3	2	63	1	0	0	0	0	1	0	0	0	10101	1609	56	4	4464	4	MYO15A	17	18036644	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	6428958	18036644	63158566	108	17710											
WNT3	7473	genome.wustl.edu	37	chr17	44851047	44851047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtacctttgtcgaggacGggcccaaagatggccaggct	9	7	14	11	2	0	1	0	0	0	1	1	3	0	2	3	4	1	3	3	4	2	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr17:44851047G>A	ENST00000225512.5	-	2	471	c.309C>T	c.(307-309)ccC>ccT	p.P103P		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	103					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGTCGAGGACGGGCCCAAAGA	0.667																																																	0													29	32	31					17																	44851047		2203	4300	6503	SO:0001819	synonymous_variant	0			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.309C>T	17.37:g.44851047G>A			Q2M237|Q9H1J9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.P103	ENST00000225512.5	37	c.309	CCDS11505.1	17																																																																																			WNT3	-	pfam_Wnt,smart_Wnt	ENSG00000108379		0.667	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3	HGNC	protein_coding	OTTHUMT00000440427.1	-	0	53	0	G	NM_030753		44851047	-1	tier1	-	no_errors	ENST00000225512	ensembl	human	known	74_37	silent	18.87	43	10	SNP	0.024	A	A	44851047	G	A	44851047	2	1	63	1	0	0	0	0	0	0	0	1	17437	1103	39	1		1	WNT3	17	44851047	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	26814403	44851047	36344163	109	17711											
WNT3	7473	genome.wustl.edu	37	chr17	44851241	44851241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagagcaggggctgtgagcCcagagatgtgtactgctggc	8	7	17	9	0	0	3	0	1	0	2	0	4	0	3	1	3	4	5	1	3	1	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr17:44851241C>A	ENST00000225512.5	-	2	277	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	39					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GGCTGTGAGCCCAGAGATGTG	0.632																																																	0													31	31	31					17																	44851241		2203	4300	6503	SO:0001583	missense	0			AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"Wingless-type MMTV integration sites", "Endogenous ligands"	12782	protein-coding gene	gene with protein product	"WNT-3 proto-oncogene protein"	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.115G>T	17.37:g.44851241C>A	ENSP00000225512:p.Gly39Cys		Q2M237|Q9H1J9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3	p.G39C	ENST00000225512.5	37	c.115	CCDS11505.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700133	0.88924	.	.	ENSG00000108379	ENST00000225512	T	0.76839	-1.05	4.68	4.68	0.58851	.	0.307379	0.34853	N	0.003621	T	0.75170	0.3813	N	0.08118	0	0.54753	D	0.999989	D	0.76494	0.999	P	0.60068	0.868	T	0.81647	-0.0838	10	0.66056	D	0.02	.	17.7866	0.88540	0.0:1.0:0.0:0.0	.	39	P56703	WNT3_HUMAN	C	39	ENSP00000225512:G39C	ENSP00000225512:G39C	G	-	1	0	WNT3	42206404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.316000	0.79007	2.434000	0.82447	0.462000	0.41574	GGC	WNT3	-	NULL	ENSG00000108379		0.632	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT3	HGNC	protein_coding	OTTHUMT00000440427.1	-	0	37	0	C	NM_030753		44851241	-1	tier1	-	no_errors	ENST00000225512	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	A	A	44851241	C	A	44851241	3	1	63	1	0	0	0	0	1	0	0	0	17437	623	22	3	964	3	WNT3	17	44851241	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	194	44851241	36343969	110	17712											
MRC2	9902	genome.wustl.edu	37	chr17	60743591	60743591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccaccacccaggactaCggcaaagacgagcgctgggg	10	4	14	13	3	0	1	0	0	0	1	0	3	0	2	3	4	3	2	3	4	2	1	rs564657391		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr17:60743591C>T	ENST00000303375.5	+	3	1059	c.657C>T	c.(655-657)taC>taT	p.Y219Y		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	219	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.Y219Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCAGGACTACGGCAAAGACG	0.642																																																	1	Substitution - coding silent(1)	large_intestine(1)											40	32	35					17																	60743591		2202	4298	6500	SO:0001819	synonymous_variant	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.657C>T	17.37:g.60743591C>T			A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.Y219	ENST00000303375.5	37	c.657	CCDS11634.1	17																																																																																			MRC2	-	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000011028		0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	-	0	35	0	C			60743591	1	tier1	-	no_errors	ENST00000303375	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.398	T	T	60743591	C	T	60743591	2	4	63	1	0	0	0	0	0	0	0	1	9796	547	19	1		1	MRC2	17	60743591	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	15892350	60743591	20451619	111	17713											
ESCO1	114799	genome.wustl.edu	37	chr18	19119902	19119902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttcagggcatactttggGtcttcaggaagaaccattat	10	15	9	7	0	3	1	2	0	1	1	3	2	3	2	1	3	2	1	1	3	4	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr18:19119902G>T	ENST00000269214.5	-	9	2959	c.2022C>A	c.(2020-2022)gaC>gaA	p.D674E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	674					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CATACTTTGGGTCTTCAGGAA	0.333																																																	0													89	93	92					18																	19119902		2203	4300	6503	SO:0001583	missense	0			AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"establishment of cohesion 1 homolog 1 (S. cerevisiae)"			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.2022C>A	18.37:g.19119902G>T	ENSP00000269214:p.Asp674Glu		B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	NULL	p.D674E	ENST00000269214.5	37	c.2022	CCDS32800.1	18	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401733	0.62288	.	.	ENSG00000141446	ENST00000269214	T	0.62232	0.04	5.56	0.695	0.18070	.	0.052061	0.85682	D	0.000000	T	0.75774	0.3895	M	0.83312	2.635	0.44142	D	0.996933	D	0.76494	0.999	D	0.72338	0.977	T	0.73411	-0.3991	10	0.42905	T	0.14	-13.2244	10.14	0.42730	0.402:0.0:0.598:0.0	.	674	Q5FWF5	ESCO1_HUMAN	E	674	ENSP00000269214:D674E	ENSP00000269214:D674E	D	-	3	2	ESCO1	17373900	0.995000	0.38212	0.999000	0.59377	0.998000	0.95712	0.480000	0.22244	0.044000	0.15775	0.585000	0.79938	GAC	ESCO1	-	NULL	ENSG00000141446		0.333	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO1	HGNC	protein_coding	OTTHUMT00000443942.1	-	0	91	0	G	NM_052911		19119902	-1	tier1	-	no_errors	ENST00000269214	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.999	T	T	19119902	G	T	19119902	3	4	63	1	0	0	0	0	1	0	0	0	5264	1252	44	3	516	3	ESCO1	18	19119902	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		19119902	58957346	112	17714											
DCC	1630	genome.wustl.edu	37	chr18	50918219	50918219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcgactttacaccgtcCggtggagaaccagcttttct	8	11	11	11	3	1	1	0	0	1	1	2	3	2	1	3	3	4	1	3	3	2	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr18:50918219C>T	ENST00000442544.2	+	17	3266	c.2650C>T	c.(2650-2652)Cgg>Tgg	p.R884W	DCC_ENST00000412726.1_Missense_Mutation_p.R712W|DCC_ENST00000581580.1_Missense_Mutation_p.R519W	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	884	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTACACCGTCCGGTGGAGAAC	0.438																																																	0													99	93	95					18																	50918219		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2650C>T	18.37:g.50918219C>T	ENSP00000389140:p.Arg884Trp			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R884W	ENST00000442544.2	37	c.2650	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	13.56	2.272494	0.40194	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.58797	0.31;0.31	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.080350	0.50627	D	0.000114	T	0.81245	0.4782	M	0.89601	3.045	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.992	D	0.85176	0.1001	10	0.87932	D	0	.	18.0078	0.89214	0.0:1.0:0.0:0.0	.	712;712;884	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	W	884;712	ENSP00000389140:R884W;ENSP00000397322:R712W	ENSP00000397322:R712W	R	+	1	2	DCC	49172217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.538000	0.60650	2.531000	0.85337	0.557000	0.71058	CGG	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	58	0	C	NM_005215		50918219	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	55.00	9	11	SNP	1.000	T	T	50918219	C	T	50918219	3	4	63	1	0	0	0	0	1	0	0	0	4291	643	23	1	2716	1	DCC	18	50918219	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	31798317	50918219	27159029	113	17715											
DCC	1630	genome.wustl.edu	37	chr18	50923732	50923732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcctcaaaccaaacacaAtgtatgaattctcggtcatg	14	9	7	11	1	3	1	2	1	1	0	4	1	3	1	2	2	2	1	2	2	5	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr18:50923732A>G	ENST00000442544.2	+	18	3359	c.2743A>G	c.(2743-2745)Atg>Gtg	p.M915V	DCC_ENST00000412726.1_Missense_Mutation_p.M743V|DCC_ENST00000581580.1_Missense_Mutation_p.M550V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	915	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCAAACACAATGTATGAATT	0.393																																																	0													122	107	112					18																	50923732		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2743A>G	18.37:g.50923732A>G	ENSP00000389140:p.Met915Val			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.M915V	ENST00000442544.2	37	c.2743	CCDS11952.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.17|11.17	1.559128|1.559128	0.27827|0.27827	.|.	.|.	ENSG00000187323|ENSG00000187323	ENST00000442544;ENST00000412726|ENST00000304775	T;T|.	0.56611|.	0.45;0.45|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50000|0.50000	0.1590|0.1590	N|N	0.19112|0.19112	0.55|0.55	0.36862|0.36862	D|D	0.88844|0.88844	B;B;B|.	0.22746|.	0.009;0.009;0.074|.	B;B;B|.	0.29440|.	0.035;0.035;0.102|.	T|T	0.62039|0.62039	-0.6938|-0.6938	10|6	0.14252|0.87932	T|D	0.57|0	.|.	15.1301|15.1301	0.72517|0.72517	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	743;743;915|.	E7EQM8;B4DYX2;P43146|.	.;.;DCC_HUMAN|.	V|S	915;743|770	ENSP00000389140:M915V;ENSP00000397322:M743V|.	ENSP00000397322:M743V|ENSP00000304146:N770S	M|N	+|+	1|2	0|0	DCC|DCC	49177730|49177730	0.995000|0.995000	0.38212|0.38212	0.954000|0.954000	0.39281|0.39281	0.998000|0.998000	0.95712|0.95712	3.358000|3.358000	0.52284|0.52284	2.213000|2.213000	0.71641|0.71641	0.528000|0.528000	0.53228|0.53228	ATG|AAT	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.393	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	67	0	A	NM_005215		50923732	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.983	G	G	50923732	A	G	50923732	3	3	63	1	0	0	0	0	1	0	0	0	4291	101	4	4	2813	4	DCC	18	50923732	Missense_Mutation	SNP	A	TCGA-L5-A4OP-01A-11D-A27G-09	5513	50923732	27153516	114	17716											
ZFR2	23217	genome.wustl.edu	37	chr19	3810782	3810782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaggtgggcacacgcCggcagaggtccctcaggacc	7	3	13	18	2	1	1	1	0	0	1	2	2	2	2	6	5	0	2	6	5	0	0			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:3810782C>T	ENST00000262961.4	-	16	2409	c.2399G>A	c.(2398-2400)cGg>cAg	p.R800Q		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	800	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GGGCACACGCCGGCAGAGGTC	0.697																																																	0													4	7	6					19																	3810782		1720	3552	5272	SO:0001583	missense	0			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"KIAA1086"	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2399G>A	19.37:g.3810782C>T	ENSP00000262961:p.Arg800Gln			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.R800Q	ENST00000262961.4	37	c.2399	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	0.728	-0.780839	0.02929	.	.	ENSG00000105278	ENST00000262961	T	0.46819	0.86	3.56	-1.76	0.08006	DZF (2);	0.182149	0.36628	N	0.002496	T	0.09818	0.0241	N	0.00514	-1.41	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37033	-0.9723	10	0.02654	T	1	-16.2285	4.272	0.10791	0.0:0.3215:0.1741:0.5044	.	800	Q9UPR6	ZFR2_HUMAN	Q	800	ENSP00000262961:R800Q	ENSP00000262961:R800Q	R	-	2	0	ZFR2	3761782	0.997000	0.39634	0.046000	0.18839	0.449000	0.32228	0.296000	0.19083	-0.431000	0.07307	-0.258000	0.10820	CGG	ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.697	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	-	0	87	0	C	NM_015174		3810782	-1	tier1	-	no_errors	ENST00000262961	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T	T	3810782	C	T	3810782	3	4	63	1	0	0	0	0	1	0	0	0	17708	652	23	1	436	1	ZFR2	19	3810782	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		3810782	55318201	115	17717											
PTPRS	5802	genome.wustl.edu	37	chr19	5220288	5220288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctcttccagatccatgtCctctgggctacccagcgggg	6	9	10	16	1	2	1	0	0	2	1	5	1	5	1	5	3	2	1	5	3	1	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:5220288C>T	ENST00000587303.1	-	20	3631	c.3532G>A	c.(3532-3534)Gac>Aac	p.D1178N	PTPRS_ENST00000588012.1_Missense_Mutation_p.D1156N|PTPRS_ENST00000353284.2_Missense_Mutation_p.D747N|PTPRS_ENST00000357368.4_Missense_Mutation_p.D1178N|PTPRS_ENST00000592099.1_Missense_Mutation_p.D747N|PTPRS_ENST00000372412.4_Missense_Mutation_p.D1179N|PTPRS_ENST00000348075.2_Missense_Mutation_p.D1156N|PTPRS_ENST00000262963.6_Missense_Mutation_p.D1174N|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1178					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGATCCATGTCCTCTGGGCTA	0.587																																																	0													49	47	48					19																	5220288		2203	4300	6503	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3532G>A	19.37:g.5220288C>T	ENSP00000467537:p.Asp1178Asn		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.D1179N	ENST00000587303.1	37	c.3535	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057538	0.76074	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.57107	0.59;0.59;0.55;0.42;0.52	3.92	3.92	0.45320	.	0.079787	0.49305	U	0.000147	T	0.55178	0.1904	L	0.34521	1.04	0.44880	D	0.99789	B;B;P;B;P;P	0.42078	0.226;0.211;0.554;0.049;0.507;0.77	B;B;P;B;P;P	0.51055	0.258;0.187;0.657;0.022;0.479;0.51	T	0.62586	-0.6823	10	0.87932	D	0	.	16.1393	0.81512	0.0:1.0:0.0:0.0	.	760;747;751;1156;1178;773	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	N	773;1179;1178;1178;1169;1174;1156;760;751;747	ENSP00000361489:D1179N;ENSP00000349932:D1178N;ENSP00000262963:D1174N;ENSP00000269907:D1156N;ENSP00000327313:D747N	ENSP00000262963:D1174N	D	-	1	0	PTPRS	5171288	1.000000	0.71417	0.997000	0.53966	0.810000	0.45777	5.553000	0.67287	2.027000	0.59764	0.655000	0.94253	GAC	PTPRS	-	NULL	ENSG00000105426		0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	54	0	C			5220288	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	55.56	16	20	SNP	1.000	T	T	5220288	C	T	5220288	3	4	63	1	0	0	0	0	1	0	0	0	12856	855	30	3	2386	3	PTPRS	19	5220288	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	1409506	5220288	53908695	116	17718											
FCER2	2208	genome.wustl.edu	37	chr19	7761792	7761792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgaagcttcgttcctctCgttcaattcttggggagtca	7	15	9	10	2	5	1	2	1	3	0	8	2	6	2	1	2	1	3	1	2	2	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:7761792C>T	ENST00000346664.5	-	8	600	c.388G>A	c.(388-390)Gag>Aag	p.E130K	FCER2_ENST00000360067.4_Missense_Mutation_p.E129K|FCER2_ENST00000597921.1_Missense_Mutation_p.E130K	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	130					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TCGTTCCTCTCGTTCAATTCT	0.582																																																	0													74	56	62					19																	7761792		2203	4299	6502	SO:0001583	missense	0			M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"C-type lectin domain containing", "CD molecules"	3612	protein-coding gene	gene with protein product		151445	"Fc fragment of IgE, low affinity II, receptor for (CD23A)"	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.388G>A	19.37:g.7761792C>T	ENSP00000264072:p.Glu130Lys			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.E130K	ENST00000346664.5	37	c.388	CCDS12184.1	19	.	.	.	.	.	.	.	.	.	.	C	9.259	1.042748	0.19748	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.16743	2.32;2.32	4.27	1.75	0.24633	.	0.211356	0.23775	N	0.044699	T	0.16128	0.0388	L	0.32530	0.975	0.28723	N	0.902938	D;P	0.71674	0.998;0.917	P;B	0.54706	0.759;0.116	T	0.09930	-1.0652	10	0.20046	T	0.44	.	4.3185	0.11005	0.0:0.6179:0.2173:0.1648	.	129;130	P06734-2;P06734	.;FCER2_HUMAN	K	130;129	ENSP00000264072:E130K;ENSP00000353178:E129K	ENSP00000264072:E130K	E	-	1	0	FCER2	7667792	0.663000	0.27448	0.794000	0.32065	0.012000	0.07955	0.308000	0.19314	0.355000	0.24131	-0.291000	0.09656	GAG	FCER2	-	NULL	ENSG00000104921		0.582	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCER2	HGNC	protein_coding	OTTHUMT00000461832.1	-	0	28	0	C	NM_002002		7761792	-1	tier1	-	no_errors	ENST00000346664	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.856	T	T	7761792	C	T	7761792	3	4	63	1	0	0	0	0	1	0	0	0	5798	893	31	1	593	1	FCER2	19	7761792	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	2541504	7761792	51367191	117	17719											
C19orf43	79002	genome.wustl.edu	37	chr19	12842231	12842231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttcccgcctctgcgtttgCccacctgggtgaagggacag	5	10	13	13	2	1	1	0	1	1	0	2	2	2	2	4	2	2	2	4	2	1	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:12842231C>T	ENST00000242784.4	-	2	467	c.350G>A	c.(349-351)gGc>gAc	p.G117D	C19orf43_ENST00000592273.1_Intron|C19orf43_ENST00000588213.1_Silent_p.G109G	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	117										endometrium(2)|large_intestine(2)	4						TCTGCGTTTGCCCACCTGGGT	0.622																																																	0													127	104	112					19																	12842231		2203	4300	6503	SO:0001583	missense	0			AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 18"					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.350G>A	19.37:g.12842231C>T	ENSP00000242784:p.Gly117Asp			Missense_Mutation	SNP	NULL	p.G117D	ENST00000242784.4	37	c.350	CCDS12279.1	19	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856010	0.91355	.	.	ENSG00000123144	ENST00000242784	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80520	-0.1346	9	0.87932	D	0	-7.9609	18.0139	0.89232	0.0:1.0:0.0:0.0	.	117	Q9BQ61	CS043_HUMAN	D	117	.	ENSP00000242784:G117D	G	-	2	0	C19orf43	12703231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.122000	0.77169	2.534000	0.85438	0.655000	0.94253	GGC	C19orf43	-	NULL	ENSG00000123144		0.622	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C19orf43	HGNC	protein_coding	OTTHUMT00000450856.1	-	0	34	0	C	NM_024038		12842231	-1	tier1	-	no_errors	ENST00000242784	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T	T	12842231	C	T	12842231	3	4	63	1	0	0	0	0	1	0	0	0	1933	739	26	3	188	3	C19orf43	19	12842231	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	5080439	12842231	46286752	118	17720											
OR10H3	26532	genome.wustl.edu	37	chr19	15852244	15852244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatatctgaatttatcctCtctggcttctcagccttccc	7	15	4	15	0	3	1	1	1	3	0	7	1	5	1	4	1	1	1	4	1	3	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:15852244C>T	ENST00000305892.1	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	14			L -> I (in dbSNP:rs2240227).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AATTTATCCTCTCTGGCTTCT	0.453																																																	0													188	176	180					19																	15852244		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.42C>T	19.37:g.15852244C>T			Q2HIZ3|Q6IFQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L14	ENST00000305892.1	37	c.42	CCDS12334.1	19																																																																																			OR10H3	-	NULL	ENSG00000171936		0.453	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	-	0	121	0	C			15852244	1	tier1	-	no_errors	ENST00000305892	ensembl	human	known	74_37	silent	45.90	33	28	SNP	0.107	T	T	15852244	C	T	15852244	2	4	63	1	0	0	0	0	0	0	0	1	10946	900	32	3		3	OR10H3	19	15852244	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	3010013	15852244	43276739	119	17721											
HKR1	284459	genome.wustl.edu	37	chr19	37853618	37853618	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtgtgcagggaatgtggGcgaggctttacgtggaagtc	8	11	17	5	2	0	0	0	0	0	0	1	3	0	2	0	4	2	2	0	4	4	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:37853618G>T	ENST00000324411.4	+	6	1190	c.921G>T	c.(919-921)ggG>ggT	p.G307G	HKR1_ENST00000591471.1_Silent_p.G34G|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Silent_p.G288G|HKR1_ENST00000541583.2_Silent_p.G246G|HKR1_ENST00000544914.1_Silent_p.G34G|HKR1_ENST00000589392.1_Silent_p.G289G	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	307					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGAATGTGGGCGAGGCTTTA	0.502																																																	0													91	84	86					19																	37853618		2203	4300	6503	SO:0001819	synonymous_variant	0			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.921G>T	19.37:g.37853618G>T			A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G307	ENST00000324411.4	37	c.921	CCDS12502.1	19																																																																																			HKR1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181666		0.502	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	HGNC	protein_coding	OTTHUMT00000458375.1		0	61	0	G	NM_181786		37853618	1			no_errors	ENST00000324411	ensembl	human	known	74_37	silent	7.50	37	3	SNP	0.859	T	T	37853618	G	T	37853618	2	4	63	1	0	0	0	0	0	0	0	1	7221	1190	42	3		3	HKR1	19	37853618	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	22001374	37853618	21275365	120	17722											
ZNF880	400713	genome.wustl.edu	37	chr19	52888071	52888071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttacaaatgtaatgaatGtggcaaagcatttagagact	16	11	8	6	0	0	2	0	1	0	1	0	3	0	2	1	1	2	3	1	1	6	4	rs12975097	byFrequency	TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:52888071G>T	ENST00000422689.2	+	4	1253	c.1238G>T	c.(1237-1239)tGt>tTt	p.C413F		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	413					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGTAATGAATGTGGCAAAGCA	0.408																																																	0													79	73	75					19																	52888071		1568	3582	5150	SO:0001583	missense	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.1238G>T	19.37:g.52888071G>T	ENSP00000406318:p.Cys413Phe		B4DNA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C413F	ENST00000422689.2	37	c.1238	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650010	0.29336	.	.	ENSG00000221923	ENST00000422689	D	0.85861	-2.04	2.03	2.03	0.26663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94377	0.8192	H	0.97365	3.99	0.34535	D	0.709594	D	0.89917	1.0	D	0.97110	1.0	D	0.95975	0.8973	8	.	.	.	.	11.0678	0.47985	0.0:0.0:1.0:0.0	rs12975097;rs12975097	413	Q6PDB4	ZN880_HUMAN	F	413	ENSP00000406318:C413F	.	C	+	2	0	ZNF880	57579883	1.000000	0.71417	0.141000	0.22245	0.082000	0.17680	3.739000	0.55075	1.110000	0.41699	0.551000	0.68910	TGT	ZNF880	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000221923		0.408	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	49	0	G	NM_001145434		52888071	1	tier1	rs12975097	no_errors	ENST00000422689	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T	T	52888071	G	T	52888071	3	4	63	1	0	0	0	0	1	0	0	0	18245	1377	48	3	1252	3	ZNF880	19	52888071	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	15034453	52888071	6240912	121	17723											
ZNF808	388558	genome.wustl.edu	37	chr19	53058029	53058029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagaattcatactggagaGaaaccatacagatgtcaggt	17	8	10	6	0	2	3	2	0	0	3	2	6	2	4	1	2	3	0	1	2	5	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr19:53058029G>A	ENST00000359798.4	+	5	2040	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ATACTGGAGAGAAACCATACA	0.398																																																	0													52	56	55					19																	53058029		2194	4293	6487	SO:0001819	synonymous_variant	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1860G>A	19.37:g.53058029G>A			Q68CN7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E620	ENST00000359798.4	37	c.1860	CCDS46167.1	19																																																																																			ZNF808	-	pfscan_Znf_C2H2	ENSG00000198482		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	-	0	53	0	G	NM_001039886		53058029	1	tier1	-	no_errors	ENST00000359798	ensembl	human	known	74_37	silent	50.00	12	12	SNP	1.000	A	A	53058029	G	A	53058029	2	1	63	1	0	0	0	0	0	0	0	1	18221	933	33	3		3	ZNF808	19	53058029	Silent	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	169958	53058029	6070954	122	17724											
LRRN4	164312	genome.wustl.edu	37	chr20	6031506	6031506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctggggagtcctgaCagtccagctgctgcaggttg	7	9	15	10	0	0	1	0	1	0	0	2	2	2	2	2	3	4	5	2	3	1	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr20:6031506C>T	ENST00000378858.4	-	3	1003	c.779G>A	c.(778-780)tGt>tAt	p.C260Y		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	260					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGAGTCCTGACAGTCCAGCTG	0.547																																																	0													152	142	145					20																	6031506		2203	4300	6503	SO:0001583	missense	0			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"Fibronectin type III domain containing"	16208	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 75"	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.779G>A	20.37:g.6031506C>T	ENSP00000368135:p.Cys260Tyr		A8K258|Q5JWV6|Q9H419	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.C260Y	ENST00000378858.4	37	c.779	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267248	0.80469	.	.	ENSG00000125872	ENST00000378858	T	0.69685	-0.42	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	D	0.82930	0.5144	M	0.78801	2.425	0.54753	D	0.999984	D;D	0.89917	1.0;0.978	D;P	0.72338	0.977;0.675	D	0.83956	0.0319	10	0.66056	D	0.02	-2.417	19.7746	0.96386	0.0:1.0:0.0:0.0	.	260;260	Q6ZMD1;Q8WUT4	.;LRRN4_HUMAN	Y	260	ENSP00000368135:C260Y	ENSP00000368135:C260Y	C	-	2	0	LRRN4	5979506	1.000000	0.71417	0.993000	0.49108	0.909000	0.53808	5.298000	0.65710	2.690000	0.91761	0.491000	0.48974	TGT	LRRN4	-	NULL	ENSG00000125872		0.547	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	-	0	42	0	C	NM_152611		6031506	-1	tier1	-	no_errors	ENST00000378858	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	T	T	6031506	C	T	6031506	3	4	63	1	0	0	0	0	1	0	0	0	9072	478	17	3	1455	3	LRRN4	20	6031506	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09		6031506	56994014	123	17725											
CSRP2BP	57325	genome.wustl.edu	37	chr20	18123481	18123481	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccagagtggggattccctCaacagtgatgaaggagacgt	12	7	14	8	1	1	4	1	2	0	2	2	7	2	5	2	3	1	0	2	3	2	1			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr20:18123481C>G	ENST00000435364.3	+	1	518	c.177C>G	c.(175-177)ctC>ctG	p.L59L	CSRP2BP_ENST00000377681.3_Silent_p.L59L|PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000489634.2_5'Flank	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	59					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGGATTCCCTCAACAGTGATG	0.522																																																	0													178	123	142					20																	18123481		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.177C>G	20.37:g.18123481C>G			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.L59	ENST00000435364.3	37	c.177	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL	ENSG00000149474		0.522	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	-	0	70	0	C	NM_020536		18123481	1	tier1	-	no_errors	ENST00000435364	ensembl	human	known	74_37	silent	32.26	42	20	SNP	1.000	G	G	18123481	C	G	18123481	2	3	63	1	0	0	0	0	0	0	0	1	3977	813	29	5		5	CSRP2BP	20	18123481	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	12091975	18123481	44902039	124	17726											
MYO18B	84700	genome.wustl.edu	37	chr22	26299695	26299695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctctctgggggaaaattGcgttgctggcttgaaggaga	9	10	14	8	1	1	2	0	1	1	1	2	4	1	3	1	4	2	3	1	4	3	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr22:26299695G>T	ENST00000407587.2	+	31	5217	c.5048G>T	c.(5047-5049)tGc>tTc	p.C1683F	MYO18B_ENST00000536101.1_Missense_Mutation_p.C1682F|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|MYO18B_ENST00000536204.1_3'UTR|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.C1682F|CTA-125H2.2_ENST00000453457.3_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1682	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGGAAAATTGCGTTGCTGGC	0.547																																																	0													44	50	48					22																	26299695		1922	4129	6051	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5048G>T	22.37:g.26299695G>T	ENSP00000386096:p.Cys1683Phe		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C1682F	ENST00000407587.2	37	c.5045		22	.	.	.	.	.	.	.	.	.	.	G	8.835	0.940922	0.18281	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86366	-2.09;-2.09;-2.11	4.74	2.5	0.30297	.	0.504809	0.19899	N	0.103554	T	0.80889	0.4710	L	0.36672	1.1	0.09310	N	1	B;P;P;P	0.46277	0.396;0.802;0.846;0.875	B;B;B;B	0.41813	0.155;0.178;0.367;0.332	T	0.72443	-0.4292	10	0.42905	T	0.14	.	11.834	0.52312	0.0:0.4917:0.5083:0.0	.	1195;1682;1683;1682	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	F	1682;1682;1683	ENSP00000441229:C1682F;ENSP00000334563:C1682F;ENSP00000386096:C1683F	ENSP00000334563:C1682F	C	+	2	0	MYO18B	24629695	0.185000	0.23213	0.001000	0.08648	0.031000	0.12232	2.007000	0.40883	1.207000	0.43291	-0.175000	0.13238	TGC	MYO18B	-	NULL	ENSG00000133454		0.547	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	43	0	G	NM_032608		26299695	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.004	T	T	26299695	G	T	26299695	3	4	63	1	0	0	0	0	1	0	0	0	10104	1319	46	3	5163	3	MYO18B	22	26299695	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		26299695	25004871	125	17727											
WNT7B	7477	genome.wustl.edu	37	chr22	46326986	46326986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaccctaccttcctgcCggcctcattgttatgcaggt	5	11	8	17	2	1	0	1	0	0	0	2	0	2	0	6	2	3	3	6	2	2	4			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chr22:46326986C>T	ENST00000339464.4	-	3	936	c.562G>A	c.(562-564)Ggc>Agc	p.G188S	WNT7B_ENST00000409496.3_Missense_Mutation_p.G192S|WNT7B_ENST00000410058.1_Missense_Mutation_p.G188S|WNT7B_ENST00000410089.1_Missense_Mutation_p.G172S	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	188					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTTCCTGCCGGCCTCATTG	0.637																																																	0													24	24	24					22																	46326986		2200	4300	6500	SO:0001583	missense	0			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"Wingless-type MMTV integration sites", "Endogenous ligands"	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.562G>A	22.37:g.46326986C>T	ENSP00000341032:p.Gly188Ser		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.G188S	ENST00000339464.4	37	c.562	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523376	0.85600	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	3.16	3.16	0.36331	.	0.000000	0.85682	U	0.000000	D	0.94493	0.8227	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95899	0.8913	10	0.87932	D	0	.	13.4408	0.61112	0.0:1.0:0.0:0.0	.	192;188	A8K0G1;P56706	.;WNT7B_HUMAN	S	188;172;192;188	ENSP00000341032:G188S;ENSP00000386781:G172S;ENSP00000386546:G192S;ENSP00000387217:G188S	ENSP00000341032:G188S	G	-	1	0	WNT7B	44705650	1.000000	0.71417	0.828000	0.32881	0.797000	0.45037	7.274000	0.78538	1.605000	0.50152	0.313000	0.20887	GGC	WNT7B	-	pfam_Wnt,smart_Wnt	ENSG00000188064		0.637	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	-	0	42	0	C	NM_058238		46326986	-1	tier1	-	no_errors	ENST00000339464	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	T	T	46326986	C	T	46326986	3	4	63	1	0	0	0	0	1	0	0	0	17444	652	23	1	495	1	WNT7B	22	46326986	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	20027291	46326986	4977580	126	17728											
SLC38A5	92745	genome.wustl.edu	37	chrX	48324664	48324664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccaccactaccttccccGcaggcccgaatgccctctgt	6	8	8	19	2	1	0	0	0	1	0	2	1	2	0	7	2	2	1	7	2	2	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:48324664G>T	ENST00000376876.3	-	6	1208	c.365C>A	c.(364-366)gCg>gAg	p.A122E	SLC38A5_ENST00000317669.5_Missense_Mutation_p.A122E|SLC38A5_ENST00000376875.1_Missense_Mutation_p.A71E			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	122					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TACCTTCCCCGCAGGCCCGAA	0.642											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	30	32					X																	48324664		2203	4299	6502	SO:0001583	missense	0			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"Solute carriers"	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.365C>A	X.37:g.48324664G>T	ENSP00000366073:p.Ala122Glu	953	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.A122E	ENST00000376876.3	37	c.365	CCDS14293.1	X	.	.	.	.	.	.	.	.	.	.	g	15.44	2.835064	0.50951	.	.	ENSG00000017483	ENST00000376876;ENST00000376875;ENST00000317669;ENST00000440085;ENST00000441948;ENST00000413668;ENST00000416711;ENST00000429543	T;T;T;T;T;T;T;T	0.02236	4.38;4.38;4.38;4.38;4.38;4.38;4.38;4.38	4.7	-0.241	0.13043	.	0.389995	0.27821	N	0.017701	T	0.04318	0.0119	L	0.50333	1.59	0.09310	N	1	B	0.30741	0.293	B	0.43623	0.425	T	0.31503	-0.9941	10	0.72032	D	0.01	.	8.7725	0.34742	0.433:0.0:0.567:0.0	.	122	Q8WUX1	S38A5_HUMAN	E	122;71;122;122;122;122;122;122	ENSP00000366073:A122E;ENSP00000366071:A71E;ENSP00000313740:A122E;ENSP00000402988:A122E;ENSP00000407258:A122E;ENSP00000403976:A122E;ENSP00000389644:A122E;ENSP00000416948:A122E	ENSP00000313740:A122E	A	-	2	0	SLC38A5	48209608	0.027000	0.19231	0.224000	0.23877	0.872000	0.50106	1.238000	0.32707	-0.623000	0.05618	-0.435000	0.05868	GCG	SLC38A5	-	pfam_AA_transpt_TM	ENSG00000017483		0.642	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	-	0	137	0	G	NM_033518		48324664	-1	tier1	-	no_errors	ENST00000317669	ensembl	human	known	74_37	missense	34.03	94	49	SNP	0.000	T	T	48324664	G	T	48324664	3	4	63	1	0	0	0	0	1	0	0	0	14652	1087	38	2	1097	2	SLC38A5	23	48324664	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09		48324664	106945896	127	17729											
PORCN	64840	genome.wustl.edu	37	chrX	48368281	48368281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcctactgcccagcagGgccttgaccagatctggctg	6	9	11	15	0	1	2	0	1	1	1	2	2	2	2	5	2	4	2	5	2	1	2	rs267606466		TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:48368281G>A	ENST00000326194.6	+	1	116	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	PORCN_ENST00000486272.1_3'UTR|PORCN_ENST00000359882.4_Missense_Mutation_p.G25S|PORCN_ENST00000537758.1_Missense_Mutation_p.G25S|PORCN_ENST00000355961.4_Missense_Mutation_p.G25S|PORCN_ENST00000367574.4_5'UTR|PORCN_ENST00000355092.3_Missense_Mutation_p.G25S|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000361988.3_Missense_Mutation_p.G25S	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	25	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCCCAGCAGGGCCTTGACCA	0.622																																																	0													65	55	59					X																	48368281		2203	4300	6503	SO:0001583	missense	0			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"dermal hypoplasia, focal"	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.73G>A	X.37:g.48368281G>A	ENSP00000322304:p.Gly25Ser		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	pfam_MBOAT_fam	p.G25S	ENST00000326194.6	37	c.73	CCDS14299.1	X	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622956	0.87460	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D	0.97553	-3.41;-4.43;-3.42;-2.76;-3.43;-4.43;-3.41	5.31	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;0.995	D;P;D;D;P	0.97110	1.0;0.863;1.0;1.0;0.87	D	0.96328	0.9241	10	0.16420	T	0.52	-10.0661	10.6649	0.45723	0.0958:0.0:0.9042:0.0	.	25;25;25;25;25	Q9H237-3;Q9H237;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.	S	25	ENSP00000352946:G25S;ENSP00000446401:G25S;ENSP00000348233:G25S;ENSP00000419212:G25S;ENSP00000354978:G25S;ENSP00000322304:G25S;ENSP00000347207:G25S	ENSP00000322304:G25S	G	+	1	0	PORCN	48253225	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.223000	0.89779	1.018000	0.39521	0.436000	0.28706	GGC	PORCN	-	NULL	ENSG00000102312		0.622	PORCN-011	KNOWN	basic|CCDS	protein_coding	PORCN	HGNC	protein_coding	OTTHUMT00000356990.1	-	0	55	0	G	NM_022825		48368281	1	tier1	-	no_errors	ENST00000326194	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A	A	48368281	G	A	48368281	3	1	63	1	0	0	0	0	1	0	0	0	12297	1232	43	3	75	3	PORCN	23	48368281	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	43617	48368281	106902279	128	17730											
CACNA1F	778	genome.wustl.edu	37	chrX	49076164	49076164	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttctccttgggtacaacTtcctgcaggagttccacacc	8	11	7	15	0	1	0	0	0	1	0	4	1	3	1	5	2	3	3	5	2	2	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:49076164T>G	ENST00000376265.2	-	20	2566	c.2505A>C	c.(2503-2505)gaA>gaC	p.E835D	CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E770D|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E824D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	835					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGTACAACTTCCTGCAGGA	0.587																																																	0													205	142	164					X																	49076164		2203	4300	6503	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2505A>C	X.37:g.49076164T>G	ENSP00000365441:p.Glu835Asp		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E835D	ENST00000376265.2	37	c.2505	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	13.42	2.232870	0.39498	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96716	-4.1;-4.02;-4.01	4.91	3.75	0.43078	.	0.583369	0.18249	N	0.147012	D	0.92368	0.7578	L	0.48362	1.52	0.26592	N	0.973171	P;P	0.45827	0.867;0.791	B;B	0.38264	0.269;0.138	D	0.86760	0.1966	10	0.37606	T	0.19	.	8.3271	0.32165	0.0:0.0973:0.0:0.9027	.	824;835	F5CIQ9;O60840	.;CAC1F_HUMAN	D	770;824;835	ENSP00000365427:E770D;ENSP00000321618:E824D;ENSP00000365441:E835D	ENSP00000321618:E824D	E	-	3	2	CACNA1F	48963108	0.990000	0.36364	1.000000	0.80357	0.892000	0.51952	0.717000	0.25851	1.619000	0.50296	0.417000	0.27973	GAA	CACNA1F	-	NULL	ENSG00000102001		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0	23	0	T	NM_005183		49076164	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.996	G	G	49076164	T	G	49076164	3	3	63	1	0	0	0	0	1	0	0	0	2550	1606	56	4	3544	4	CACNA1F	23	49076164	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	707883	49076164	106194396	129	17731											
KIF4A	24137	genome.wustl.edu	37	chrX	69595951	69595951	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttttgtttttatagaTgatgaaaaaccagcgggtac	11	15	10	5	1	0	3	0	2	0	1	0	3	0	3	1	2	3	3	1	2	5	7			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:69595951T>A	ENST00000374403.3	+	18	2007	c.1925T>A	c.(1924-1926)aTg>aAg	p.M642K	KIF4A_ENST00000374388.3_Splice_Site_p.M642K	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	642					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TTTTTATAGATGATGAAAAAC	0.368																																																	0													61	57	58					X																	69595951		2203	4300	6503	SO:0001630	splice_region_variant	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1924-1T>A	X.37:g.69595951T>A			B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M642K	ENST00000374403.3	37	c.1925	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	T	0.723	-0.782840	0.02907	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.15952	2.38;2.38	4.79	3.62	0.41486	.	0.371334	0.22616	N	0.057767	T	0.07999	0.0200	N	0.25647	0.755	0.29522	N	0.853397	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.003	T	0.32929	-0.9888	10	0.06891	T	0.86	.	1.4447	0.02361	0.1848:0.099:0.1633:0.5529	.	642;642	O95239;O95239-2	KIF4A_HUMAN;.	K	642	ENSP00000363509:M642K;ENSP00000363524:M642K	ENSP00000363509:M642K	M	+	2	0	KIF4A	69512676	0.979000	0.34478	0.997000	0.53966	0.910000	0.53928	0.332000	0.19751	0.757000	0.33036	-0.321000	0.08615	ATG	KIF4A	-	NULL	ENSG00000090889		0.368	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	-	0	47	0	T	NM_012310	Missense_Mutation	69595951	1	tier1	-	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.995	A	A	69595951	T	A	69595951	5	1	63	1	0	0	0	0	0	0	1	0	8330	1478	51	5	1991	5	KIF4A	23	69595951	Splice_Site	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	20519787	69595951	85674609	130	17732											
ACRC	93953	genome.wustl.edu	37	chrX	70823925	70823925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattcggaagctcccgaCgacagcagtgatgattcgga	11	8	13	9	4	0	3	0	3	0	0	3	8	1	5	1	2	2	2	1	2	1	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:70823925C>T	ENST00000373695.1	+	7	1335	c.798C>T	c.(796-798)gaC>gaT	p.D266D	ACRC_ENST00000373696.3_Silent_p.D266D			Q96QF7	ACRC_HUMAN	acidic repeat containing	266	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAGCTCCCGACGACAGCAGTG	0.557																																																	0													32	34	33					X																	70823925		2152	4171	6323	SO:0001819	synonymous_variant	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.798C>T	X.37:g.70823925C>T			B9EG62	Silent	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.D266	ENST00000373695.1	37	c.798	CCDS35326.1	X																																																																																			ACRC	-	NULL	ENSG00000147174		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	-	0	101	0	C			70823925	1	tier1	-	no_errors	ENST00000373695	ensembl	human	known	74_37	silent	28.57	70	28	SNP	0.203	T	T	70823925	C	T	70823925	2	4	63	1	0	0	0	0	0	0	0	1	171	535	19	1		1	ACRC	23	70823925	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	1227974	70823925	84446635	131	17733											
MAGEE2	139599	genome.wustl.edu	37	chrX	75004084	75004084	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgggcatctgacacaaacTtcagggcttccatctttgtg	9	12	9	11	0	3	1	1	1	2	0	4	1	4	1	1	2	1	2	1	2	1	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:75004084T>G	ENST00000373359.2	-	1	995	c.803A>C	c.(802-804)aAg>aCg	p.K268T		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	268	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGACACAAACTTCAGGGCTTC	0.488																																																	0													63	63	63					X																	75004084		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.803A>C	X.37:g.75004084T>G	ENSP00000362457:p.Lys268Thr		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K268T	ENST00000373359.2	37	c.803	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316701	0.40996	.	.	ENSG00000186675	ENST00000373359	T	0.03920	3.76	3.1	3.1	0.35709	.	.	.	.	.	T	0.10121	0.0248	L	0.60455	1.87	0.18873	N	0.999984	D	0.58268	0.982	P	0.52454	0.699	T	0.15009	-1.0452	9	0.54805	T	0.06	.	6.97	0.24644	0.0:0.0:0.0:1.0	.	268	Q8TD90	MAGE2_HUMAN	T	268	ENSP00000362457:K268T	ENSP00000362457:K268T	K	-	2	0	MAGEE2	74920809	0.998000	0.40836	0.376000	0.26042	0.779000	0.44077	1.189000	0.32114	1.451000	0.47736	0.345000	0.21793	AAG	MAGEE2	-	pfscan_MAGE	ENSG00000186675		0.488	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0	64	0	T	NM_138703		75004084	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.380	G	G	75004084	T	G	75004084	3	3	63	1	0	0	0	0	1	0	0	0	9224	1609	56	4	772	4	MAGEE2	23	75004084	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	4180159	75004084	80266476	132	17734											
P2RY10	27334	genome.wustl.edu	37	chrX	78216863	78216863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttgtcccgttgtccgaatCgcactgtatttccacccttt	6	15	7	13	3	0	0	0	0	0	0	4	1	3	0	4	0	0	4	4	0	2	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:78216863C>T	ENST00000171757.2	+	4	1126	c.846C>T	c.(844-846)atC>atT	p.I282I	P2RY10_ENST00000544091.1_Silent_p.I282I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTGTCCGAATCGCACTGTATT	0.418																																																	0													246	225	232					X																	78216863		2203	4300	6503	SO:0001819	synonymous_variant	0			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.846C>T	X.37:g.78216863C>T			D3DTE5|Q4VBN7|Q86V16	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I282	ENST00000171757.2	37	c.846	CCDS14442.1	X																																																																																			P2RY10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000078589		0.418	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	-	0	78	0	C			78216863	1	tier1	-	no_errors	ENST00000171757	ensembl	human	known	74_37	silent	28.79	47	19	SNP	0.004	T	T	78216863	C	T	78216863	2	4	63	1	0	0	0	0	0	0	0	1	11386	874	31	1		1	P2RY10	23	78216863	Silent	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	3212779	78216863	77053697	133	17735											
CHM	1121	genome.wustl.edu	37	chrX	85218846	85218846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatggttttctttttcccCtgtcacttcagcaccattta	8	17	4	12	0	3	0	2	0	1	0	4	0	4	0	3	1	1	2	3	1	2	7			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:85218846C>T	ENST00000357749.2	-	5	555	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.G28R	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	176					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TCTTTTTCCCCTGTCACTTCA	0.428																																																	0			GRCh37	CD941644	CHM	D							190	146	161					X																	85218846		2203	4300	6503	SO:0001583	missense	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.526G>A	X.37:g.85218846C>T	ENSP00000350386:p.Gly176Arg		A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.G176R	ENST00000357749.2	37	c.526	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	C	2.471	-0.321918	0.05386	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	T;T	0.63580	-0.05;-0.05	4.5	3.56	0.40772	.	0.744378	0.12861	N	0.433106	T	0.50735	0.1633	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36040	-0.9764	10	0.38643	T	0.18	0.6654	4.0988	0.10004	0.14:0.5555:0.2069:0.0976	.	176	P24386	RAE1_HUMAN	R	176;28	ENSP00000350386:G176R;ENSP00000441728:G28R	ENSP00000350386:G176R	G	-	1	0	CHM	85105502	0.000000	0.05858	0.785000	0.31869	0.649000	0.38597	-0.066000	0.11598	1.962000	0.57031	0.284000	0.19432	GGG	CHM	-	pirsf_Rab_geranylTrfase_A_euk	ENSG00000188419		0.428	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	-	0	96	0	C	NM_000390		85218846	-1	tier1	-	no_errors	ENST00000357749	ensembl	human	known	74_37	missense	47.17	28	25	SNP	0.002	T	T	85218846	C	T	85218846	3	4	63	1	0	0	0	0	1	0	0	0	3357	681	24	3	1479	3	CHM	23	85218846	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	7001983	85218846	70051714	134	17736											
HTR2C	3358	genome.wustl.edu	37	chrX	114082577	114082577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttcagattatgtctggCcactacctagatatttgtgc	8	16	7	10	0	3	2	1	0	2	2	3	2	3	2	2	1	2	0	2	1	4	6			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:114082577C>T	ENST00000276198.1	+	5	1089	c.361C>T	c.(361-363)Cca>Tca	p.P121S	HTR2C_ENST00000371951.1_Missense_Mutation_p.P121S|HTR2C_ENST00000371950.3_Missense_Mutation_p.P121S	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	121					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTATGTCTGGCCACTACCTAG	0.393																																																	0													195	159	171					X																	114082577		2203	4300	6503	SO:0001583	missense	0				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5295	protein-coding gene	gene with protein product		312861	"5-hydroxytryptamine (serotonin) receptor 2C"	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.361C>T	X.37:g.114082577C>T	ENSP00000276198:p.Pro121Ser		B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.P121S	ENST00000276198.1	37	c.361	CCDS14564.1	X	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211415	0.79240	.	.	ENSG00000147246	ENST00000276198;ENST00000371951;ENST00000371950	T;T;T	0.37752	1.81;1.81;1.18	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53061	0.1773	L	0.58669	1.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.47649	-0.9101	10	0.22109	T	0.4	.	13.7668	0.62999	0.0:1.0:0.0:0.0	.	121;121	B1AMW4;P28335	.;5HT2C_HUMAN	S	121	ENSP00000276198:P121S;ENSP00000361019:P121S;ENSP00000361018:P121S	ENSP00000276198:P121S	P	+	1	0	HTR2C	113988833	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.686000	0.84128	1.813000	0.52934	0.600000	0.82982	CCA	HTR2C	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000147246		0.393	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	-	0	59	0	C	NM_000868		114082577	1	tier1	-	no_errors	ENST00000276198	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	114082577	C	T	114082577	3	4	63	1	0	0	0	0	1	0	0	0	7470	739	26	3	371	3	HTR2C	23	114082577	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	28863731	114082577	41187983	135	17737											
SEPT6	23157	genome.wustl.edu	37	chrX	118767380	118767380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactcgctggacgaacatCtgtctcatctcctcttcttt	6	16	6	13	2	5	1	1	1	5	0	8	3	5	2	1	1	1	1	1	1	1	3			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:118767380C>A	ENST00000343984.5	-	8	1296	c.1032G>T	c.(1030-1032)caG>caT	p.Q344H	SEPT6_ENST00000360156.7_Missense_Mutation_p.Q344H|SEPT6_ENST00000394616.4_Missense_Mutation_p.Q286H|SEPT6_ENST00000394617.2_Missense_Mutation_p.Q374H|SEPT6_ENST00000394610.1_Missense_Mutation_p.Q344H|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000354228.4_Missense_Mutation_p.Q344H|SEPT6_ENST00000354416.3_Missense_Mutation_p.Q344H|SEPT6_ENST00000489216.1_Missense_Mutation_p.Q344H	NM_015129.5	NP_055944.2	Q14141	SEPT6_HUMAN	septin 6	344					cytokinesis (GO:0000910)|viral process (GO:0016032)	axon terminus (GO:0043679)|kinetochore (GO:0000776)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)	GTP binding (GO:0005525)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGACGAACATCTGTCTCATCT	0.433			T	MLL	AML																																			Dom	yes		X	Xq24	23157	septin 6		L	0													286	270	275					X																	118767380		2203	4300	6503	SO:0001583	missense	0			D50918	CCDS14583.1, CCDS14584.1, CCDS14585.1	Xq24	2013-01-21			ENSG00000125354	ENSG00000125354		"Septins"	15848	protein-coding gene	gene with protein product		300683				8590280, 10744683	Standard	NM_015129		Approved	KIAA0128, SEP2, SEPT2, MGC16619, MGC20339	uc004erv.3	Q14141	OTTHUMG00000022280	ENST00000343984.5:c.1032G>T	X.37:g.118767380C>A	ENSP00000341524:p.Gln344His		Q5JTK0|Q969W5|Q96A13|Q96GR1|Q96P86|Q96P87	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.Q374H	ENST00000343984.5	37	c.1122	CCDS14584.1	X	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682323	0.68042	.	.	ENSG00000125354	ENST00000360156;ENST00000354228;ENST00000489216;ENST00000354416;ENST00000394610;ENST00000343984;ENST00000394616;ENST00000394617	D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.84433	2.695	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;0.996;0.755	D;D;D;B	0.87578	0.998;0.984;0.995;0.236	D	0.92297	0.5846	10	0.72032	D	0.01	.	12.6993	0.57022	0.0:0.9163:0.0:0.0837	.	374;286;344;344	F5H1J5;B4E049;Q14141;Q548C9	.;.;SEPT6_HUMAN;.	H	344;344;344;344;344;344;286;374	ENSP00000353278:Q344H;ENSP00000346169:Q344H;ENSP00000418715:Q344H;ENSP00000346397:Q344H;ENSP00000378108:Q344H;ENSP00000341524:Q344H;ENSP00000378114:Q286H;ENSP00000378115:Q374H	ENSP00000341524:Q344H	Q	-	3	2	SEPT6	118651408	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.816000	0.27267	2.286000	0.76751	0.556000	0.70494	CAG	SEPT6	-	pirsf_Septin	ENSG00000125354		0.433	SEPT6-001	KNOWN	basic|CCDS	protein_coding	SEPT6	HGNC	protein_coding	OTTHUMT00000058059.1	-	0	57	0	C	NM_145802		118767380	-1	tier1	-	no_errors	ENST00000394617	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	A	A	118767380	C	A	118767380	3	1	63	1	0	0	0	0	1	0	0	0	14113	912	32	3	306	3	SEPT6	23	118767380	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	4684803	118767380	36503180	136	17738											
ATP2B3	492	genome.wustl.edu	37	chrX	152845487	152845487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctatgaaggcctggagaaaCcagaatccaagacctccatt	14	8	8	11	0	1	4	0	1	1	3	3	5	3	4	5	2	1	0	5	2	5	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:152845487C>A	ENST00000349466.2	+	21	3720	c.3394C>A	c.(3394-3396)Cca>Aca	p.P1132T	ATP2B3_ENST00000263519.4_Missense_Mutation_p.P1132T|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000370181.2_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1132					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGAGAAACCAGAATCCAA	0.577																																																	0													156	132	140					X																	152845487		2203	4300	6503	SO:0001583	missense	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.3394C>A	X.37:g.152845487C>A	ENSP00000343886:p.Pro1132Thr		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.P1132T	ENST00000349466.2	37	c.3394	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	c	24.5	4.541018	0.85917	.	.	ENSG00000067842	ENST00000349466;ENST00000263519	T;T	0.76968	-1.06;-1.06	5.02	5.02	0.67125	.	0.065954	0.64402	D	0.000011	D	0.87378	0.6162	M	0.85099	2.735	0.80722	D	1	P;D	0.56746	0.844;0.977	P;P	0.59825	0.637;0.864	D	0.88443	0.3043	10	0.45353	T	0.12	-23.643	16.1597	0.81693	0.0:1.0:0.0:0.0	.	1118;1132	Q16720-4;Q16720	.;AT2B3_HUMAN	T	1132	ENSP00000343886:P1132T;ENSP00000263519:P1132T	ENSP00000263519:P1132T	P	+	1	0	ATP2B3	152498681	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	7.789000	0.85783	2.065000	0.61736	0.525000	0.51046	CCA	ATP2B3	-	pfam_ATP_Ca_trans_C	ENSG00000067842		0.577	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	-	0	74	0	C	NM_021949		152845487	1	tier1	-	no_errors	ENST00000263519	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	A	A	152845487	C	A	152845487	3	1	63	1	0	0	0	0	1	0	0	0	1142	507	18	3	3630	3	ATP2B3	23	152845487	Missense_Mutation	SNP	C	TCGA-L5-A4OP-01A-11D-A27G-09	34078107	152845487	2425073	137	17739											
PLXNB3	5365	genome.wustl.edu	37	chrX	153033156	153033156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcctcatccaggccGccttccttgccccgggcacc	4	6	11	20	2	1	0	1	0	0	0	3	0	3	0	9	3	1	1	9	3	0	2			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:153033156G>A	ENST00000361971.5	+	3	988	c.874G>A	c.(874-876)Gcc>Acc	p.A292T	PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|PLXNB3_ENST00000538282.1_Intron|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A315T	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	292	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCAGGCCGCCTTCCTTGC	0.706																																																	0													12	11	12					X																	153033156		2172	4254	6426	SO:0001583	missense	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.874G>A	X.37:g.153033156G>A	ENSP00000355378:p.Ala292Thr		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A315T	ENST00000361971.5	37	c.943	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	G	14.49	2.551063	0.45383	.	.	ENSG00000198753	ENST00000538966;ENST00000361971	T;T	0.13538	2.58;2.58	5.1	4.23	0.50019	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.236856	0.21888	N	0.067630	T	0.41811	0.1175	M	0.86502	2.82	0.25784	N	0.984694	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.93	T	0.40813	-0.9543	10	0.72032	D	0.01	.	13.1238	0.59342	0.0:0.0:0.8386:0.1614	.	315;292	F5H773;Q9ULL4	.;PLXB3_HUMAN	T	315;292	ENSP00000442736:A315T;ENSP00000355378:A292T	ENSP00000355378:A292T	A	+	1	0	PLXNB3	152686350	1.000000	0.71417	0.040000	0.18447	0.077000	0.17291	6.946000	0.75953	0.932000	0.37266	-0.351000	0.07748	GCC	PLXNB3	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000198753		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1		0	9	0	G			153033156	1			no_errors	ENST00000538966	ensembl	human	known	74_37	missense	75.00	1	3	SNP	0.434	A	A	153033156	G	A	153033156	3	1	63	1	0	0	0	0	1	0	0	0	12164	1087	38	1	998	1	PLXNB3	23	153033156	Missense_Mutation	SNP	G	TCGA-L5-A4OP-01A-11D-A27G-09	187669	153033156	2237404	138	17740											
TKTL1	8277	genome.wustl.edu	37	chrX	153543622	153543622	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaggtactctactttcTctgagatattcaacaaggag	13	11	7	10	0	3	1	1	1	2	1	4	3	3	2	1	2	3	1	1	2	5	5			TCGA-L5-A4OP-01A-11D-A27G-09	TCGA-L5-A4OP-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bba70246-cc50-48cf-af2a-4e725334d2a4	ebf1e76d-bce2-4ee7-ab3c-6b004e11303d	g.chrX:153543622T>A	ENST00000369915.3	+	7	1153	c.964T>A	c.(964-966)Tct>Act	p.S322T	TKTL1_ENST00000217905.7_Missense_Mutation_p.S62T|TKTL1_ENST00000369912.2_Missense_Mutation_p.S266T	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	322					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCTACTTTCTCTGAGATATT	0.493																																																	0													183	144	157					X																	153543622		2203	4300	6503	SO:0001583	missense	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.964T>A	X.37:g.153543622T>A	ENSP00000358931:p.Ser322Thr		A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.S322T	ENST00000369915.3	37	c.964	CCDS35448.1	X	.	.	.	.	.	.	.	.	.	.	T	7.596	0.671682	0.14776	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	D;D;D	0.91351	-2.83;-2.83;-2.83	4.2	3.0	0.34707	Transketolase-like, pyrimidine-binding domain (2);	0.059456	0.64402	D	0.000002	D	0.90082	0.6902	L	0.42487	1.325	0.48830	D	0.999711	B;D;D	0.53619	0.037;0.961;0.961	B;D;D	0.63703	0.015;0.917;0.917	D	0.85088	0.0950	10	0.08837	T	0.75	-20.8939	9.2238	0.37393	0.0:0.0:0.1807:0.8193	.	62;316;322	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	T	322;266;62;266	ENSP00000358931:S322T;ENSP00000217905:S62T;ENSP00000358928:S266T	ENSP00000217905:S62T	S	+	1	0	TKTL1	153196816	1.000000	0.71417	0.534000	0.28014	0.087000	0.18053	3.028000	0.49705	0.488000	0.27723	0.242000	0.17961	TCT	TKTL1	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd	ENSG00000007350		0.493	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	-	0	65	0	T	NM_012253		153543622	1	tier1	-	no_errors	ENST00000369915	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	A	A	153543622	T	A	153543622	3	1	63	1	0	0	0	0	1	0	0	0	15982	1551	54	5	990	5	TKTL1	23	153543622	Missense_Mutation	SNP	T	TCGA-L5-A4OP-01A-11D-A27G-09	510466	153543622	1726938	139	17741											
CYB5RL	606495	genome.wustl.edu	37	chr1	54640442	54640442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaggtcctggcccaggtgGccaaagtgggttttctcttg	6	13	13	9	0	1	0	0	0	1	0	3	0	2	0	3	5	0	1	3	5	2	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr1:54640442G>A	ENST00000534324.1	-	6	797	c.798C>T	c.(796-798)ggC>ggT	p.G266G	CYB5RL_ENST00000419823.2_Silent_p.G266G|AL357673.1_ENST00000536061.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'Flank|CYB5RL_ENST00000542737.1_Silent_p.G266G|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Silent_p.G198G|CYB5RL_ENST00000401046.3_Silent_p.G118G|CYB5RL_ENST00000537208.1_Silent_p.G198G			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	266							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GGCCCAGGTGGCCAAAGTGGG	0.557																																																	0													41	42	42					1																	54640442		1894	4119	6013	SO:0001819	synonymous_variant	0				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.798C>T	1.37:g.54640442G>A			B7ZBS4|Q8NF25	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.G266	ENST00000534324.1	37	c.798	CCDS44151.1	1																																																																																			CYB5RL	-	pfam_OxRdtase_FAD/NAD-bd	ENSG00000215883		0.557	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	HGNC	protein_coding	OTTHUMT00000388318.1	-	0	39	0	G	NM_001031672		54640442	-1	tier1	-	no_errors	ENST00000419823	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	A	A	54640442	G	A	54640442	2	1	64	1	0	0	0	0	0	0	0	1	4139	1190	42	3		3	CYB5RL	1	54640442	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		54640442	194610179	1	17742											
MOV10	4343	genome.wustl.edu	37	chr1	113234375	113234375	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgctccccatgcttcttCagggaacaagtatcttcact	9	12	7	13	0	4	0	2	0	2	0	5	1	5	1	2	1	4	4	2	1	3	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr1:113234375C>T	ENST00000413052.2	+	6	1315	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	MOV10_ENST00000468624.1_3'UTR|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Nonsense_Mutation_p.Q309*|MOV10_ENST00000369645.1_Nonsense_Mutation_p.Q309*|MOV10_ENST00000369644.1_Nonsense_Mutation_p.Q253*	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	309					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATGCTTCTTCAGGGAACAAG	0.552																																																	0													121	116	118					1																	113234375		2203	4300	6503	SO:0001587	stop_gained	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.925C>T	1.37:g.113234375C>T	ENSP00000399797:p.Gln309*		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.Q309*	ENST00000413052.2	37	c.925	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	45	12.066145	0.99632	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	.	.	.	5.01	4.03	0.46877	.	0.495684	0.24267	N	0.040034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-14.3947	10.2025	0.43094	0.198:0.802:0.0:0.0	.	.	.	.	X	309;309;309;253;309;247	.	ENSP00000285733:Q309X	Q	+	1	0	MOV10	113035898	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.786000	0.38694	2.779000	0.95612	0.561000	0.74099	CAG	MOV10	-	NULL	ENSG00000155363		0.552	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	-	0	79	0	C	NM_020963		113234375	1	tier1	-	no_errors	ENST00000357443	ensembl	human	known	74_37	nonsense	25.00	42	14	SNP	1.000	T	T	113234375	C	T	113234375	4	4	64	1	0	0	0	0	0	1	0	0	9756	827	29	3	943	3	MOV10	1	113234375	Nonsense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	58593933	113234375	136016246	2	17743											
CTSK	1513	genome.wustl.edu	37	chr1	150779260	150779260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagctcaccacaggtagcaGcagaaccttgagcccccaca	14	4	8	15	0	1	2	1	1	0	1	1	2	1	2	4	1	5	4	4	1	3	2	rs138360770		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr1:150779260G>T	ENST00000271651.3	-	2	132	c.22C>A	c.(22-24)Ctg>Atg	p.L8M	CTSK_ENST00000480670.1_5'Flank	NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	8					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACAGGTAGCAGCAGAACCTTG	0.483																																																	0													138	121	127					1																	150779260		2203	4300	6503	SO:0001583	missense	0			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"Cathepsins"	2536	protein-coding gene	gene with protein product		601105	"cathepsin K (pycnodysostosis)"	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.22C>A	1.37:g.150779260G>T	ENSP00000271651:p.Leu8Met		Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.L8M	ENST00000271651.3	37	c.22	CCDS969.1	1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544968	0.45280	.	.	ENSG00000143387	ENST00000271651;ENST00000443913	T;T	0.79352	-1.26;-1.02	5.66	1.18	0.20946	.	0.334562	0.29692	N	0.011445	T	0.51770	0.1694	L	0.43152	1.355	0.28083	N	0.932127	P	0.45348	0.856	B	0.41988	0.372	T	0.48896	-0.8994	10	0.72032	D	0.01	.	5.9486	0.19234	0.2631:0.137:0.5999:0.0	.	8	P43235	CATK_HUMAN	M	8;67	ENSP00000271651:L8M;ENSP00000405083:L67M	ENSP00000271651:L8M	L	-	1	2	CTSK	149045884	0.001000	0.12720	0.899000	0.35326	0.879000	0.50718	0.362000	0.20284	0.658000	0.30925	0.655000	0.94253	CTG	CTSK	-	NULL	ENSG00000143387		0.483	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSK	HGNC	protein_coding	OTTHUMT00000084732.1	-	0	43	0	G	NM_000396		150779260	-1	tier1	-	no_errors	ENST00000271651	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.555	T	T	150779260	G	T	150779260	3	4	64	1	0	0	0	0	1	0	0	0	4046	962	34	3	995	3	CTSK	1	150779260	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	37544885	150779260	98471361	3	17744											
CD1B	910	genome.wustl.edu	37	chr1	158299185	158299185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggatgatgtcctggccCtctaaactgctgtgcttcac	8	12	10	11	0	2	2	1	1	1	1	3	3	3	3	2	2	3	2	2	2	3	3	rs375087573		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr1:158299185C>A	ENST00000368168.3	-	4	968	c.861G>T	c.(859-861)gaG>gaT	p.E287D		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	287	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGTCCTGGCCCTCTAAACTGC	0.567																																																	0													79	76	77					1																	158299185		2203	4300	6503	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.861G>T	1.37:g.158299185C>A	ENSP00000357150:p.Glu287Asp		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.E287D	ENST00000368168.3	37	c.861	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	C	6.283	0.420364	0.11928	.	.	ENSG00000158485	ENST00000368168	T	0.02944	4.1	4.26	-6.05	0.02172	MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.356741	0.20498	N	0.091151	T	0.00580	0.0019	L	0.33753	1.03	0.09310	N	1	B	0.12013	0.005	B	0.19391	0.025	T	0.46693	-0.9173	10	0.36615	T	0.2	-7.4594	1.7636	0.02997	0.2154:0.4049:0.1269:0.2528	.	287	P29016	CD1B_HUMAN	D	287	ENSP00000357150:E287D	ENSP00000357150:E287D	E	-	3	2	CD1B	156565809	0.000000	0.05858	0.200000	0.23457	0.024000	0.10985	-1.206000	0.03011	-1.078000	0.03117	-0.882000	0.02950	GAG	CD1B	-	pfam_Ig_C1-set,smart_Ig_C1-set	ENSG00000158485		0.567	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	-	0	50	0	C	NM_001764		158299185	-1	tier1	-	no_errors	ENST00000368168	ensembl	human	known	74_37	missense	22.45	38	11	SNP	0.113	A	A	158299185	C	A	158299185	3	1	64	1	0	0	0	0	1	0	0	0	2982	680	24	3	152	3	CD1B	1	158299185	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	7519925	158299185	90951436	4	17745											
RNASEL	6041	genome.wustl.edu	37	chr1	182550476	182550476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggattcatttcccacattccGaagcgtcctatagcggctga	9	11	9	12	3	1	1	1	1	0	0	4	3	4	2	3	2	2	1	3	2	3	5			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr1:182550476G>A	ENST00000367559.3	-	5	2042	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	RNASEL_ENST00000444138.1_Missense_Mutation_p.R597W|RNASEL_ENST00000539397.1_Missense_Mutation_p.R597W	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	597	KEN. {ECO:0000255|PROSITE- ProRule:PRU00725}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CCCACATTCCGAAGCGTCCTA	0.408																																																	0													204	194	198					1																	182550476		2203	4300	6503	SO:0001583	missense	0			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"Ankyrin repeat domain containing"	10050	protein-coding gene	gene with protein product		180435	"prostate cancer 1"	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1789C>T	1.37:g.182550476G>A	ENSP00000356530:p.Arg597Trp		Q5W0L2|Q6AI46	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.R597W	ENST00000367559.3	37	c.1789	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099930	0.56183	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.33865	1.39;1.39;1.39	5.4	-0.93	0.10441	KEN domain, ribonuclease activator (2);	0.221665	0.29444	N	0.012140	T	0.55194	0.1905	M	0.80982	2.52	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48422	-0.9037	10	0.87932	D	0	-19.9812	9.2098	0.37311	0.0:0.1117:0.4622:0.426	.	597;597	Q6AI46;Q05823	.;RN5A_HUMAN	W	597	ENSP00000356530:R597W;ENSP00000411147:R597W;ENSP00000440844:R597W	ENSP00000356530:R597W	R	-	1	2	RNASEL	180817099	0.001000	0.12720	0.035000	0.18076	0.918000	0.54935	0.049000	0.14099	-0.119000	0.11830	-0.188000	0.12872	CGG	RNASEL	-	pfam_KEN_dom	ENSG00000135828		0.408	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	HGNC	protein_coding	OTTHUMT00000085189.1	-	0	58	0	G	NM_021133		182550476	-1	tier1	-	no_errors	ENST00000367559	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.055	A	A	182550476	G	A	182550476	3	1	64	1	0	0	0	0	1	0	0	0	13461	1057	37	1	448	1	RNASEL	1	182550476	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	24251291	182550476	66700145	5	17746											
ASPM	259266	genome.wustl.edu	37	chr1	197057452	197057452	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgtaaaaatgcttccGcctttgtctgcaactttatt	8	19	6	8	1	1	0	0	0	1	0	2	0	2	0	2	0	3	4	2	0	5	8			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr1:197057452G>T	ENST00000367409.4	-	26	10351	c.10095C>A	c.(10093-10095)ggC>ggA	p.G3365G	ASPM_ENST00000367408.1_Silent_p.G1030G|ASPM_ENST00000294732.7_Silent_p.G1780G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3365					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.G3365G(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAATGCTTCCGCCTTTGTCTG	0.338																																																	1	Substitution - coding silent(1)	endometrium(1)											79	86	83					1																	197057452		2202	4299	6501	SO:0001819	synonymous_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.10095C>A	1.37:g.197057452G>T			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.G3365	ENST00000367409.4	37	c.10095	CCDS1389.1	1																																																																																			ASPM	-	NULL	ENSG00000066279		0.338	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1		0	33	0	G	NM_018136		197057452	-1			no_errors	ENST00000367409	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.856	T	T	197057452	G	T	197057452	2	4	64	1	0	0	0	0	0	0	0	1	1057	1074	38	2		2	ASPM	1	197057452	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	14506976	197057452	52193169	6	17747											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232650479	232650479	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaagttttcaccagataAgccttgcctgtcgatggatg	13	11	9	8	1	1	1	1	0	0	1	2	3	1	2	3	1	2	1	3	1	4	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr1:232650479A>G	ENST00000366630.1	-	2	965	c.607T>C	c.(607-609)Tta>Cta	p.L203L	SIPA1L2_ENST00000262861.4_Silent_p.L203L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	203					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCACCAGATAAGCCTTGCCTG	0.478																																																	0													128	125	126					1																	232650479		1905	4120	6025	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.607T>C	1.37:g.232650479A>G			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.L203	ENST00000366630.1	37	c.607	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL	ENSG00000116991		0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1		0	21	0	A	XM_045839		232650479	-1			no_errors	ENST00000262861	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.233	G	G	232650479	A	G	232650479	2	3	64	1	0	0	0	0	0	0	0	1	14375	69	3	4		4	SIPA1L2	1	232650479	Silent	SNP	A	TCGA-L5-A4OQ-01A-11D-A27G-09	35593027	232650479	16600142	7	17748											
PXDN	7837	genome.wustl.edu	37	chr2	1677547	1677547	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtcccatcgtccagcaAgtttaggcgggaatctgtct	8	10	12	11	2	2	0	0	0	2	0	5	1	4	1	2	3	1	2	2	3	3	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:1677547A>C	ENST00000252804.4	-	9	936	c.886T>G	c.(886-888)Ttg>Gtg	p.L296V	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	296	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGTCCAGCAAGTTTAGGCGG	0.502																																																	0													135	136	136					2																	1677547		2054	4205	6259	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.886T>G	2.37:g.1677547A>C	ENSP00000252804:p.Leu296Val		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L296V	ENST00000252804.4	37	c.886	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	A	8.609	0.888714	0.17540	.	.	ENSG00000130508	ENST00000252804	T	0.63417	-0.04	5.25	-9.03	0.00737	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.171345	0.39985	N	0.001202	T	0.39145	0.1067	N	0.13272	0.32	0.31233	N	0.696117	B;B	0.27700	0.095;0.186	B;B	0.33121	0.101;0.158	T	0.10941	-1.0608	10	0.23302	T	0.38	-31.9694	16.6123	0.84886	0.3584:0.0:0.6416:0.0	.	296;296	Q92626-2;Q92626	.;PXDN_HUMAN	V	296	ENSP00000252804:L296V	ENSP00000252804:L296V	L	-	1	2	PXDN	1656554	0.997000	0.39634	0.176000	0.23000	0.194000	0.23727	0.322000	0.19576	-1.992000	0.00975	-0.441000	0.05720	TTG	PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000130508		0.502	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	84	0	A	XM_056455		1677547	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	29.27	58	24	SNP	0.617	C	C	1677547	A	C	1677547	3	2	64	1	0	0	0	0	1	0	0	0	12892	69	3	4	3613	4	PXDN	2	1677547	Missense_Mutation	SNP	A	TCGA-L5-A4OQ-01A-11D-A27G-09		1677547	241521826	8	17749											
HADHA	3030	genome.wustl.edu	37	chr2	26437990	26437990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttggcaaaagtaattGcaacttcttctaggtattct	10	16	7	8	0	3	0	0	0	3	0	4	0	4	0	1	2	2	4	1	2	6	8	rs372831713		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:26437990G>T	ENST00000380649.3	-	8	860	c.731C>A	c.(730-732)gCa>gAa	p.A244E	HADHA_ENST00000457468.2_Missense_Mutation_p.A157E	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	244					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAAGTAATTGCAACTTCTTC	0.398																																																	0													198	194	195					2																	26437990		2203	4300	6503	SO:0001583	missense	0			D16480	CCDS1721.1	2p23	2014-09-17	2010-04-30		ENSG00000084754	ENSG00000084754	1.1.1.211, 4.2.1.17		4801	protein-coding gene	gene with protein product	"gastrin-binding protein", "long-chain-3-hydroxyacyl-CoA dehydrogenase", "long-chain 2-enoyl-CoA hydratase", "mitochondrial trifunctional protein, alpha subunit"	600890	"hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit"			9605857, 7918661	Standard	NM_000182		Approved	GBP, LCEH, LCHAD, MTPA	uc002rgy.3	P40939	OTTHUMG00000096979	ENST00000380649.3:c.731C>A	2.37:g.26437990G>T	ENSP00000370023:p.Ala244Glu		B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit	p.A244E	ENST00000380649.3	37	c.731	CCDS1721.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.078219	0.94000	.	.	ENSG00000084754	ENST00000380649;ENST00000457468	T;T	0.78707	-1.2;-1.2	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.93535	0.6873	10	0.87932	D	0	-8.8067	18.1463	0.89656	0.0:0.0:1.0:0.0	.	157;244;244	B4DYP2;E9KL44;P40939	.;.;ECHA_HUMAN	E	244;157	ENSP00000370023:A244E;ENSP00000405344:A157E	ENSP00000370023:A244E	A	-	2	0	HADHA	26291494	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	8.811000	0.91954	2.890000	0.99128	0.585000	0.79938	GCA	HADHA	-	tigrfam_Fa_ox_alpha_mit	ENSG00000084754		0.398	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADHA	HGNC	protein_coding	OTTHUMT00000214051.1		0	40	0	G	NM_000182		26437990	-1			no_errors	ENST00000380649	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	26437990	G	T	26437990	3	4	64	1	0	0	0	0	1	0	0	0	6970	1319	46	3	1612	3	HADHA	2	26437990	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	24760443	26437990	216761383	9	17750											
ADD2	119	genome.wustl.edu	37	chr2	70905912	70905912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaggtaggtgttgggcGtattgagccagcgggtcttc	5	10	16	10	3	1	1	0	1	1	0	2	1	1	1	2	4	2	4	2	4	2	5	rs201022450		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:70905912G>A	ENST00000264436.4	-	11	1751	c.1307C>T	c.(1306-1308)aCg>aTg	p.T436M	ADD2_ENST00000413157.2_Missense_Mutation_p.T436M|ADD2_ENST00000355733.3_Missense_Mutation_p.T436M|ADD2_ENST00000407644.2_Missense_Mutation_p.T436M|ADD2_ENST00000430656.1_Missense_Mutation_p.T452M	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	436	Interaction with calmodulin. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGTGTTGGGCGTATTGAGCCA	0.647																																																	0								G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	130	133	132		1307,1355,1307,1307,1307	4.3	1	2		132	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	ADD2	NM_001185054.1,NM_001185055.1,NM_001617.3,NM_017482.3,NM_017488.3	81,81,81,81,81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	436/727,452/576,436/727,436/560,436/644	70905912	2,13004	2203	4300	6503	SO:0001583	missense	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1307C>T	2.37:g.70905912G>A	ENSP00000264436:p.Thr436Met		A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T436M	ENST00000264436.4	37	c.1307	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423351	0.83559	2.27E-4	1.16E-4	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.23	4.32	0.51571	.	0.052758	0.64402	D	0.000001	T	0.40862	0.1134	M	0.61703	1.905	0.47037	D	0.999291	D;D;D;D	0.89917	0.998;0.996;0.998;1.0	P;P;P;D	0.65874	0.762;0.814;0.841;0.939	T	0.21861	-1.0233	10	0.87932	D	0	-21.8515	13.6429	0.62263	0.0:0.1676:0.8324:0.0	.	452;436;436;436	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	M	436;436;436;436;436;452	ENSP00000264436:T436M;ENSP00000384677:T436M;ENSP00000347972:T436M;ENSP00000388072:T436M;ENSP00000398112:T452M	ENSP00000264436:T436M	T	-	2	0	ADD2	70759420	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	7.645000	0.83430	2.716000	0.92895	0.655000	0.94253	ACG	ADD2	-	NULL	ENSG00000075340		0.647	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	-	0	59	0	G	NM_001617		70905912	-1	tier1	rs201022450	no_errors	ENST00000264436	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.990	A	A	70905912	G	A	70905912	3	1	64	1	0	0	0	0	1	0	0	0	305	1145	40	1	1074	1	ADD2	2	70905912	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	44467922	70905912	172293461	10	17751											
DYSF	8291	genome.wustl.edu	37	chr2	71755483	71755483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggcttcgagagtaacaaGaagaacttggtggacccctt	11	11	11	8	1	0	3	0	0	0	3	1	5	0	4	2	3	2	2	2	3	4	5			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:71755483G>A	ENST00000258104.3	+	13	1513	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	DYSF_ENST00000409366.1_Silent_p.K413K|DYSF_ENST00000413539.2_Silent_p.K443K|DYSF_ENST00000409744.1_Silent_p.K413K|DYSF_ENST00000394120.2_Silent_p.K413K|DYSF_ENST00000409651.1_Silent_p.K444K|DYSF_ENST00000410020.3_Silent_p.K444K|DYSF_ENST00000429174.2_Silent_p.K412K|DYSF_ENST00000409582.3_Silent_p.K443K|DYSF_ENST00000410041.1_Silent_p.K444K|DYSF_ENST00000409762.1_Silent_p.K443K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	412	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGAGTAACAAGAAGAACTTGG	0.557																																																	0													121	96	105					2																	71755483		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1236G>A	2.37:g.71755483G>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.K443	ENST00000258104.3	37	c.1329	CCDS1918.1	2																																																																																			DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000135636		0.557	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	49	0	G	NM_003494		71755483	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	15.00	34	6	SNP	1.000	A	A	71755483	G	A	71755483	2	1	64	1	0	0	0	0	0	0	0	1	4873	933	33	3		3	DYSF	2	71755483	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	849571	71755483	171443890	11	17752											
NEB	4703	genome.wustl.edu	37	chr2	152402931	152402931	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcagccaaatcccttcagGacctgcaagtcctctttgta	11	10	7	13	0	2	0	1	0	1	0	4	1	4	1	4	1	3	3	4	1	4	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:152402931G>T	ENST00000172853.10	-	106	15438	c.15291C>A	c.(15289-15291)gtC>gtA	p.V5097V	NEB_ENST00000603639.1_Silent_p.V6798V|NEB_ENST00000604864.1_Silent_p.V6798V|NEB_ENST00000409198.1_Silent_p.V5097V|NEB_ENST00000397345.3_Silent_p.V6798V|NEB_ENST00000427231.2_Silent_p.V6798V			P20929	NEBU_HUMAN	nebulin	5097					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCCCTTCAGGACCTGCAAGT	0.463																																																	0													121	128	126					2																	152402931		1956	4157	6113	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.15291C>A	2.37:g.152402931G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.V6798	ENST00000172853.10	37	c.20394		2																																																																																			NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.463	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	19	0	G	NM_004543		152402931	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	T	T	152402931	G	T	152402931	2	4	64	1	0	0	0	0	0	0	0	1	10341	1161	41	3		3	NEB	2	152402931	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	80647448	152402931	90796442	12	17753											
ECEL1	9427	genome.wustl.edu	37	chr2	233349744	233349744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggccttctgttccacagCgtctgcacccaggaggctga	6	10	12	13	1	2	1	0	1	2	0	3	2	3	2	3	3	2	3	3	3	0	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:233349744C>T	ENST00000304546.1	-	4	1123	c.913G>A	c.(913-915)Gct>Act	p.A305T	ECEL1_ENST00000409941.1_Missense_Mutation_p.A305T	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	305					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGTTCCACAGCGTCTGCACCC	0.637																																																	0													79	73	75					2																	233349744		2203	4300	6503	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.913G>A	2.37:g.233349744C>T	ENSP00000302051:p.Ala305Thr		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A305T	ENST00000304546.1	37	c.913	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	C	4.556	0.103212	0.08731	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	T;T	0.73575	-0.76;-0.76	5.36	2.35	0.29111	Peptidase M13 (1);	0.368382	0.28908	N	0.013743	T	0.51007	0.1649	N	0.17631	0.505	0.09310	N	1	B;B	0.28378	0.209;0.197	B;B	0.26614	0.02;0.071	T	0.33599	-0.9862	10	0.36615	T	0.2	-15.6577	1.4299	0.02331	0.2691:0.2874:0.2993:0.1441	.	305;305	O95672-2;O95672	.;ECEL1_HUMAN	T	305	ENSP00000302051:A305T;ENSP00000386333:A305T	ENSP00000302051:A305T	A	-	1	0	ECEL1	233057988	0.377000	0.25106	0.004000	0.12327	0.038000	0.13279	0.816000	0.27267	0.582000	0.29556	0.462000	0.41574	GCT	ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.637	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0	31	0	C	NM_004826		233349744	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.001	T	T	233349744	C	T	233349744	3	4	64	1	0	0	0	0	1	0	0	0	4905	768	27	1	1474	1	ECEL1	2	233349744	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	80946813	233349744	9849629	13	17754											
GBX2	2637	genome.wustl.edu	37	chr2	237074959	237074959	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctccttgtgagctgcctgGccagtcagattgtcatccga	6	12	10	13	1	2	2	2	1	0	1	5	3	5	2	5	1	2	1	5	1	0	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:237074959G>T	ENST00000306318.4	-	2	1042	c.645C>A	c.(643-645)ggC>ggA	p.G215G	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	215					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGCTGCCTGGCCAGTCAGAT	0.647																																																	0													63	61	61					2																	237074959		2203	4300	6503	SO:0001819	synonymous_variant	0			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"Homeoboxes / ANTP class : HOXL subclass"	4186	protein-coding gene	gene with protein product		601135	"gastrulation brain homeo box 2"			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.645C>A	2.37:g.237074959G>T			B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G215	ENST00000306318.4	37	c.645	CCDS2515.1	2																																																																																			GBX2	-	NULL	ENSG00000168505		0.647	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3		0	32	0	G	NM_001485		237074959	-1			no_errors	ENST00000306318	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	T	T	237074959	G	T	237074959	2	4	64	1	0	0	0	0	0	0	0	1	6306	1190	42	3		3	GBX2	2	237074959	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	3725215	237074959	6124414	14	17755											
KIF1A	547	genome.wustl.edu	37	chr2	241680691	241680691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaccagcactcactcgccGttggcctccagctcacagat	9	7	8	17	2	2	1	2	0	0	1	4	1	3	1	4	1	3	4	4	1	0	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr2:241680691G>T	ENST00000320389.7	-	33	3599	c.3441C>A	c.(3439-3441)aaC>aaA	p.N1147K	KIF1A_ENST00000498729.2_Missense_Mutation_p.N1248K	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1147					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCACTCGCCGTTGGCCTCCA	0.662																																																	0													29	35	33					2																	241680691		2110	4228	6338	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3441C>A	2.37:g.241680691G>T	ENSP00000322791:p.Asn1147Lys		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N1248K	ENST00000320389.7	37	c.3744	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.89|14.89	2.671563|2.671563	0.47781|0.47781	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000431776	T;T;T|.	0.73575|.	-0.61;-0.7;-0.76|.	4.44|4.44	-8.88|-8.88	0.00789|0.00789	.|.	0.056399|.	0.64402|.	U|.	0.000002|.	T|T	0.61788|0.61788	0.2375|0.2375	L|L	0.55990|0.55990	1.75|1.75	0.47511|0.47511	D|D	0.999442|0.999442	B;B;D|.	0.60160|.	0.002;0.364;0.987|.	B;B;P|.	0.48454|.	0.01;0.168;0.578|.	T|T	0.71094|0.71094	-0.4692|-0.4692	10|5	0.72032|.	D|.	0.01|.	.|.	16.039|16.039	0.80650|0.80650	0.4225:0.0:0.5775:0.0|0.4225:0.0:0.5775:0.0	.|.	1248;1248;1147|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	K|K	1147;1248;1248;1248|71	ENSP00000322791:N1147K;ENSP00000438388:N1248K;ENSP00000384231:N1248K|.	ENSP00000322791:N1147K|.	N|T	-|-	3|2	2|0	KIF1A|KIF1A	241329364|241329364	0.000000|0.000000	0.05858|0.05858	0.561000|0.561000	0.28357|0.28357	0.969000|0.969000	0.65631|0.65631	-1.996000|-1.996000	0.01471|0.01471	-2.394000|-2.394000	0.00583|0.00583	-0.501000|-0.501000	0.04562|0.04562	AAC|ACG	KIF1A	-	NULL	ENSG00000130294		0.662	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0	22	0	G	NM_138483		241680691	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.652	T	T	241680691	G	T	241680691	3	4	64	1	0	0	0	0	1	0	0	0	8310	1136	40	2	1691	2	KIF1A	2	241680691	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	4605732	241680691	1518682	15	17756											
LRRN1	57633	genome.wustl.edu	37	chr3	3886551	3886551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctctagtgacacacaaGtgcttctcttacagagcaat	12	11	6	12	0	2	2	0	1	2	1	4	2	2	2	1	0	3	2	1	0	4	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr3:3886551G>T	ENST00000319331.3	+	2	987	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	76						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGACACACAAGTGCTTCTCTT	0.438																																																	0													113	103	106					3																	3886551		2203	4300	6503	SO:0001583	missense	0			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"Immunoglobulin superfamily / I-set domain containing"	20980	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 3"					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.226G>T	3.37:g.3886551G>T	ENSP00000314901:p.Val76Leu		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V76L	ENST00000319331.3	37	c.226	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012684	0.93346	.	.	ENSG00000175928	ENST00000319331	T	0.39997	1.05	5.76	5.76	0.90799	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	L	0.37697	1.125	0.80722	D	1	B	0.29936	0.262	B	0.32149	0.141	T	0.14924	-1.0455	10	0.06891	T	0.86	.	19.9759	0.97304	0.0:0.0:1.0:0.0	.	76	Q6UXK5	LRRN1_HUMAN	L	76	ENSP00000314901:V76L	ENSP00000314901:V76L	V	+	1	0	LRRN1	3861551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.787000	0.99055	2.713000	0.92767	0.655000	0.94253	GTG	LRRN1	-	NULL	ENSG00000175928		0.438	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	-	0	35	0	G	NM_020873		3886551	1	tier1	-	no_errors	ENST00000319331	ensembl	human	known	74_37	missense	33.33	20	10	SNP	1.000	T	T	3886551	G	T	3886551	3	4	64	1	0	0	0	0	1	0	0	0	9069	1029	36	3	228	3	LRRN1	3	3886551	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		3886551	194135879	16	17757											
RAF1	5894	genome.wustl.edu	37	chr3	12632438	12632438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttgtcctttgtcatgtacCccatgaaaagcagaatgttc	10	13	9	9	0	1	2	1	1	0	1	3	2	2	2	3	1	2	4	3	1	4	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr3:12632438C>T	ENST00000251849.4	-	12	1668	c.1229G>A	c.(1228-1230)gGg>gAg	p.G410E	RAF1_ENST00000542177.1_Missense_Mutation_p.G329E|RAF1_ENST00000534997.1_Missense_Mutation_p.G195E|RAF1_ENST00000442415.2_Missense_Mutation_p.G430E	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGTCATGTACCCCATGAAAAG	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																															Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													134	125	128					3																	12632438		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"C-Raf proto-oncogene, serine/threonine kinase"	164760	"v-raf-1 murine leukemia viral oncogene homolog 1"			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1229G>A	3.37:g.12632438C>T	ENSP00000251849:p.Gly410Glu		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.G430E	ENST00000251849.4	37	c.1289	CCDS2612.1	3	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015374	0.93404	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	4.75	4.75	0.60458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93588	0.7953	M	0.63169	1.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94138	0.7394	10	0.87932	D	0	.	18.3009	0.90163	0.0:1.0:0.0:0.0	.	329;195;410	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	E	410;430;289;195;329	ENSP00000251849:G410E;ENSP00000401888:G430E;ENSP00000398591:G289E;ENSP00000441186:G195E;ENSP00000443567:G329E	ENSP00000251849:G410E	G	-	2	0	RAF1	12607438	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	7.604000	0.82830	2.617000	0.88574	0.563000	0.77884	GGG	RAF1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000132155		0.532	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAF1	HGNC	protein_coding	OTTHUMT00000252015.2		0	65	0	C	NM_002880		12632438	-1			no_errors	ENST00000442415	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	12632438	C	T	12632438	3	4	64	1	0	0	0	0	1	0	0	0	13047	623	22	3	741	3	RAF1	3	12632438	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	8745887	12632438	185389992	17	17758											
MYD88	30	genome.wustl.edu	37	chr3	38180161	38180161	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcagacaatgcgaccCgaccgcgctgaggctccagg	8	4	14	15	5	0	2	0	1	0	1	1	4	1	2	3	3	1	4	3	3	1	0			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr3:38180161C>T	ENST00000333167.8	-	0	0				MYD88_ENST00000443433.2_Silent_p.P3P|MYD88_ENST00000424893.1_Silent_p.P3P|MYD88_ENST00000396334.3_Silent_p.P3P|ACAA1_ENST00000444607.2_5'Flank|ACAA1_ENST00000450296.1_5'Flank|MYD88_ENST00000495303.1_Silent_p.P3P|ACAA1_ENST00000301810.7_5'Flank|MYD88_ENST00000417037.2_Silent_p.P3P|ACAA1_ENST00000544624.1_5'Flank	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CAATGCGACCCGACCGCGCTG	0.716																																																	0													7	7	7					3																	38180161		1999	3947	5946	SO:0001631	upstream_gene_variant	0			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"peroxisomal 3-oxoacyl-Coenzyme A thiolase"	604054	"acetyl-Coenzyme A acyltransferase 1"				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38180161C>T	Exception_encountered		G5E935|Q96CA6	Silent	SNP	pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom	p.P3	ENST00000333167.8	37	c.9	CCDS2673.1	3																																																																																			MYD88	-	NULL	ENSG00000172936		0.716	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYD88	HGNC	protein_coding	OTTHUMT00000342980.1	-	0	33	0	C	NM_001607		38180161	1	tier1	-	no_errors	ENST00000417037	ensembl	human	known	74_37	silent	38.46	16	10	SNP	0.000	T	T	38180161	C	T	38180161	1	4	64	0	1	0	0	0	0	0	0	0	10061	639	23	1		1	MYD88	3	38180161	5'Flank	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	25547723	38180161	159842269	18	17759											
TGM4	7047	genome.wustl.edu	37	chr3	44955211	44955211	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagattgttctcatcacCaagtagccttgtctgatgct	10	13	8	10	0	3	3	2	1	2	2	4	3	3	3	2	0	2	3	2	0	3	4	rs79609954	byFrequency	TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr3:44955211C>G	ENST00000296125.4	+	14	2117	c.2049C>G	c.(2047-2049)acC>acG	p.T683T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	683					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCTCATCACCAAGTAGCCTT	0.368											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													131	132	132					3																	44955211		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"Transglutaminases"	11780	protein-coding gene	gene with protein product		600585	"transglutaminase 4 (prostate)"			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.2049C>G	3.37:g.44955211C>G		927	Q16707|Q96QN4	Silent	SNP	pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T683	ENST00000296125.4	37	c.2049	CCDS2723.1	3																																																																																			TGM4	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000163810		0.368	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	-	0	58	0	C	NM_003241		44955211	1	tier1	-	no_errors	ENST00000296125	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.605	G	G	44955211	C	G	44955211	2	3	64	1	0	0	0	0	0	0	0	1	15879	581	21	5		5	TGM4	3	44955211	Silent	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	6775050	44955211	153067219	19	17760											
THOC7	80145	genome.wustl.edu	37	chr3	63823667	63823667	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaccttggcgattttttcGtattcgttttgcttgaagaa	7	19	8	7	3	0	2	0	1	0	1	2	3	0	2	1	1	2	3	1	1	4	10			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr3:63823667G>T	ENST00000295899.5	-	4	449	c.337C>A	c.(337-339)Cga>Aga	p.R113R	THOC7_ENST00000498422.1_5'UTR|C3orf49_ENST00000295896.8_Intron	NM_025075.2	NP_079351.2	Q6I9Y2	THOC7_HUMAN	THO complex 7 homolog (Drosophila)	113	Interaction with NIF3L1.|Interaction with THOC5.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGATTTTTTCGTATTCGTTTT	0.328																																					Colon(48;665 1127 6720 18651)												0													173	160	164					3																	63823667		2203	4299	6502	SO:0001819	synonymous_variant	0			BC020599	CCDS2900.1, CCDS74957.1	3p14.1	2013-02-11			ENSG00000163634	ENSG00000163634		"THO complex subunits"	29874	protein-coding gene	gene with protein product	"Ngg1 interacting factor 3 like 1 binding protein 1", "functional spliceosome-associated protein 24"	611965				12951069	Standard	NM_001285404		Approved	NIF3L1BP1, FLJ23445, fSAP24	uc003dlt.4	Q6I9Y2	OTTHUMG00000158767	ENST00000295899.5:c.337C>A	3.37:g.63823667G>T			Q6P1L3|Q8WUF2|Q9H5H0	Silent	SNP	pfam_THOC7/Mft1	p.R113	ENST00000295899.5	37	c.337	CCDS2900.1	3																																																																																			THOC7	-	pfam_THOC7/Mft1	ENSG00000163634		0.328	THOC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC7	HGNC	protein_coding	OTTHUMT00000352096.1	-	0	58	0	G	NM_025075		63823667	-1	tier1	-	no_errors	ENST00000295899	ensembl	human	known	74_37	silent	34.48	19	10	SNP	1.000	T	T	63823667	G	T	63823667	2	4	64	1	0	0	0	0	0	0	0	1	15917	1153	40	2		2	THOC7	3	63823667	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	18868456	63823667	134198763	20	17761											
CLDN16	10686	genome.wustl.edu	37	chr3	190127745	190127745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaaagcctattcagccGcgggtgtttccatggccaag	9	9	13	10	2	1	1	1	1	0	0	2	2	2	2	4	3	2	1	4	3	3	3	rs549642537	byFrequency	TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr3:190127745G>A	ENST00000264734.2	+	5	1086	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	CLDN16_ENST00000456423.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	280					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.A280T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTATTCAGCCGCGGGTGTTTC	0.448													G|||	6	0.00119808	0.0045	0	5008	,	,		16362	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)											84	87	86					3																	190127745		2203	4300	6503	SO:0001583	missense	0			AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"Claudins"	2037	protein-coding gene	gene with protein product	"paracellin-1", "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.838G>A	3.37:g.190127745G>A	ENSP00000264734:p.Ala280Thr			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin	p.A280T	ENST00000264734.2	37	c.838	CCDS3296.1	3	.	.	.	.	.	.	.	.	.	.	G	6.754	0.507968	0.12883	.	.	ENSG00000113946	ENST00000264734	D	0.90444	-2.67	5.95	-2.9	0.05648	.	0.521937	0.20019	N	0.100960	T	0.82213	0.4988	L	0.38838	1.175	0.27115	N	0.962284	B	0.14805	0.011	B	0.09377	0.004	T	0.64279	-0.6445	10	0.21540	T	0.41	-41.9827	11.587	0.50925	0.5855:0.0:0.4145:0.0	.	280	Q9Y5I7	CLD16_HUMAN	T	280	ENSP00000264734:A280T	ENSP00000264734:A280T	A	+	1	0	CLDN16	191610439	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	-1.032000	0.03304	-1.723000	0.00705	GCG	CLDN16	-	NULL	ENSG00000113946		0.448	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN16	HGNC	protein_coding	OTTHUMT00000343519.1	-	0	63	0	G	NM_006580		190127745	1	tier1	-	no_errors	ENST00000264734	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.000	A	A	190127745	G	A	190127745	3	1	64	1	0	0	0	0	1	0	0	0	3484	1087	38	1	856	1	CLDN16	3	190127745	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	126304078	190127745	7894685	21	17762											
MUC4	4585	genome.wustl.edu	37	chr3	195481170	195481170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggacactcgggaagcacGgctcctcacaggcatcctcg	9	6	12	14	3	1	0	1	0	0	0	5	2	3	2	2	4	1	3	2	4	1	0			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr3:195481170G>A	ENST00000346145.4	-	18	2573	c.2534C>T	c.(2533-2535)cCg>cTg	p.P845L	MUC4_ENST00000463781.3_Missense_Mutation_p.P5081L|MUC4_ENST00000475231.1_Missense_Mutation_p.P5029L|MUC4_ENST00000349607.4_Missense_Mutation_p.P794L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1838	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGGAAGCACGGCTCCTCACA	0.682																																																	0													52	52	52					3																	195481170		2203	4300	6503	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"Mucins"	7514	protein-coding gene	gene with protein product		158372	"mucin 4, tracheobronchial"			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2534C>T	3.37:g.195481170G>A	ENSP00000304207:p.Pro845Leu		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P5081L	ENST00000346145.4	37	c.15242	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	14.18	2.459058	0.43634	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.50277	0.75;1.12;1.17;1.09	5.46	-8.44	0.00950	.	2.287140	0.01725	N	0.028523	T	0.38054	0.1026	M	0.80183	2.485	0.09310	N	1	B;B;B;B;B;P	0.41366	0.291;0.031;0.031;0.006;0.006;0.747	B;B;B;B;B;B	0.24974	0.033;0.006;0.01;0.002;0.002;0.057	T	0.54563	-0.8275	10	0.39692	T	0.17	0.2125	7.0382	0.25004	0.0907:0.0938:0.5705:0.245	.	4953;794;845;5081;5029;1786	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	L	794;845;5081;5029;1581	ENSP00000338109:P794L;ENSP00000304207:P845L;ENSP00000417498:P5081L;ENSP00000420243:P5029L	ENSP00000304207:P845L	P	-	2	0	MUC4	196966841	0.000000	0.05858	0.034000	0.17996	0.015000	0.08874	-2.235000	0.01202	-0.569000	0.06030	-1.701000	0.00721	CCG	MUC4	-	smart_EG-like_dom	ENSG00000145113		0.682	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	-	0	63	0	G	NM_018406		195481170	-1	tier1	-	no_errors	ENST00000463781	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.000	A	A	195481170	G	A	195481170	3	1	64	1	0	0	0	0	1	0	0	0	10016	1116	39	1	1024	1	MUC4	3	195481170	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	5353425	195481170	2541260	22	17763											
CSN3	1448	genome.wustl.edu	37	chr4	71114982	71114982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcatccatcatttattGccatccccccaaagaaaatt	13	11	3	14	0	1	1	1	0	0	1	3	1	3	1	6	0	2	1	6	0	4	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr4:71114982G>T	ENST00000304954.3	+	4	441	c.355G>T	c.(355-357)Gcc>Tcc	p.A119S		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	0					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATCATTTATTGCCATCCCCCC	0.483																																																	0													122	111	114					4																	71114982		2203	4300	6503	SO:0001583	missense	0			U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"casein, kappa"	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.355G>T	4.37:g.71114982G>T	ENSP00000304822:p.Ala119Ser		B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	pfam_Casein_kappa,pirsf_Casein_kappa	p.A119S	ENST00000304954.3	37	c.355	CCDS3538.1	4	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138729	0.37728	.	.	ENSG00000171209	ENST00000304954	T	0.47177	0.85	4.3	3.42	0.39159	.	0.996520	0.08134	N	0.992610	T	0.66867	0.2833	M	0.76170	2.325	0.09310	N	1	D	0.64830	0.994	D	0.66351	0.943	T	0.50857	-0.8778	10	0.87932	D	0	-3.3007	9.978	0.41795	0.0:0.2059:0.7941:0.0	.	119	P07498	CASK_HUMAN	S	119	ENSP00000304822:A119S	ENSP00000304822:A119S	A	+	1	0	CSN3	71149571	0.000000	0.05858	0.005000	0.12908	0.100000	0.18952	0.299000	0.19138	1.343000	0.45638	0.655000	0.94253	GCC	CSN3	-	pfam_Casein_kappa,pirsf_Casein_kappa	ENSG00000171209		0.483	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN3	HGNC	protein_coding	OTTHUMT00000251555.1	-	0	29	0	G	NM_005212		71114982	1	tier1	-	no_errors	ENST00000304954	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.005	T	T	71114982	G	T	71114982	3	4	64	1	0	0	0	0	1	0	0	0	3958	1319	46	3	365	3	CSN3	4	71114982	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		71114982	120039294	23	17764											
NUP54	53371	genome.wustl.edu	37	chr4	77055514	77055514	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcaactataacctactGcctgtggaatgacaaaataa	16	9	7	9	0	0	1	0	1	0	0	0	2	0	2	2	1	5	2	2	1	8	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr4:77055514G>T	ENST00000264883.3	-	5	664	c.524C>A	c.(523-525)gCa>gAa	p.A175E	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Splice_Site_p.A127E	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	175	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATAACCTACTGCCTGTGGAAT	0.313																																																	0													40	36	37					4																	77055514		2203	4300	6503	SO:0001630	splice_region_variant	0			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.523-1C>A	4.37:g.77055514G>T			B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	NULL	p.A175E	ENST00000264883.3	37	c.524	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586160	0.66105	.	.	ENSG00000138750	ENST00000264883;ENST00000514987	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81936	0.4928	M	0.83384	2.64	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.57911	0.829;0.829	D	0.83693	0.0178	9	0.72032	D	0.01	-26.0578	20.1392	0.98050	0.0:0.0:1.0:0.0	.	127;175	B4DT35;Q7Z3B4	.;NUP54_HUMAN	E	175;127	.	ENSP00000264883:A175E	A	-	2	0	NUP54	77274538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.118000	0.94355	2.765000	0.95021	0.557000	0.71058	GCA	NUP54	-	NULL	ENSG00000138750		0.313	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	HGNC	protein_coding	OTTHUMT00000252402.3	-	0	39	0	G		Missense_Mutation	77055514	-1	tier1	-	no_errors	ENST00000264883	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	77055514	G	T	77055514	5	4	64	1	0	0	0	0	0	0	1	0	10806	1333	46	3	1031	3	NUP54	4	77055514	Splice_Site	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	5940532	77055514	114098762	24	17765											
ELF2	1998	genome.wustl.edu	37	chr4	140046348	140046348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctcggtctcaacttcttGttcttctgccacatcttgca	6	17	5	13	1	6	0	1	0	6	0	8	0	6	0	1	1	3	2	1	1	1	6			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr4:140046348G>T	ENST00000394235.2	-	4	710	c.208C>A	c.(208-210)Caa>Aaa	p.Q70K	ELF2_ENST00000265495.4_Missense_Mutation_p.Q70K|ELF2_ENST00000379550.1_Missense_Mutation_p.Q70K	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.Q70E(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TCAACTTCTTGTTCTTCTGCC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											203	192	196					4																	140046348		2203	4300	6503	SO:0001583	missense	0			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.208C>A	4.37:g.140046348G>T	ENSP00000377782:p.Gln70Lys			Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Q70K	ENST00000394235.2	37	c.208	CCDS3744.1	4	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933267	0.92458	.	.	ENSG00000109381	ENST00000394235;ENST00000379550;ENST00000265495	T;T;T	0.44482	0.92;0.92;0.92	5.88	5.88	0.94601	.	0.186259	0.47852	D	0.000214	T	0.50120	0.1597	M	0.68952	2.095	0.80722	D	1	P	0.46142	0.873	B	0.44044	0.439	T	0.46034	-0.9220	9	.	.	.	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	70	Q15723-1	.	K	70	ENSP00000377782:Q70K;ENSP00000368868:Q70K;ENSP00000265495:Q70K	.	Q	-	1	0	ELF2	140265798	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.211000	0.95120	2.789000	0.95967	0.591000	0.81541	CAA	ELF2	-	pfam_TF_Elf_N	ENSG00000109381		0.398	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF2	HGNC	protein_coding	OTTHUMT00000257233.2		0	48	0	G	NM_006874		140046348	-1			no_errors	ENST00000379550	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	140046348	G	T	140046348	3	4	64	1	0	0	0	0	1	0	0	0	5070	1386	48	3	1663	3	ELF2	4	140046348	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	62990834	140046348	51107928	25	17766											
HHIP	64399	genome.wustl.edu	37	chr4	145633170	145633171	+	Frame_Shift_Ins	INS	-	-	A																															ctgtgttcagactccaatggINSaaaaaacagatcatcagcca																										TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr4:145633170_145633171insA	ENST00000296575.3	+	8	2025_2026	c.1370_1371insA	c.(1369-1374)ggaaaafs	p.GK457fs		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	457					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GACTCCAATGGAAAAAACAGAT	0.356																																																	0																																										SO:0001589	frameshift_variant	0			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1376dupA	4.37:g.145633176_145633176dupA	ENSP00000296575:p.Gly457fs		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Frame_Shift_Ins	INS	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.N459fs	ENST00000296575.3	37	c.1370_1371	CCDS3762.1	4																																																																																			HHIP	-	NULL	ENSG00000164161		0.356	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	HGNC	protein_coding	OTTHUMT00000364887.2		0	59	0	-			145633171	1	tier1		no_errors	ENST00000296575	ensembl	human	known	74_37	frame_shift_ins	23.91	35	11	INS	1.000:0.998	A	A	145633171	-	A	145633170	7	5	64	1	0	1	1	0	0	0	0	0	7119	1174	41	0	1400	0	HHIP	4	145633170	Frame_Shift_Ins	INS	-	TCGA-L5-A4OQ-01A-11D-A27G-09	5586822	145633170	45521106	26	17767											
SMAD1	4086	genome.wustl.edu	37	chr4	146435831	146435831	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacttcttgggtggaaacaGggcgatgaagaagaaaaatg	16	7	14	4	1	1	4	0	1	1	3	1	6	1	5	0	3	1	0	0	3	5	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr4:146435831G>A	ENST00000515385.1	+	2	608	c.66G>A	c.(64-66)caG>caA	p.Q22Q	SMAD1_ENST00000515527.1_3'UTR|RP11-301H24.4_ENST00000513542.1_RNA|SMAD1_ENST00000302085.4_Silent_p.Q22Q|SMAD1_ENST00000394092.2_Silent_p.Q22Q			Q15797	SMAD1_HUMAN	SMAD family member 1	22	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GGTGGAAACAGGGCGATGAAG	0.413																																					Pancreas(182;1287 2092 10326 35158 50562)												0													97	91	93					4																	146435831		2203	4300	6503	SO:0001819	synonymous_variant	0			U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"SMADs"	6767	protein-coding gene	gene with protein product		601595	"MAD, mothers against decapentaplegic homolog 1 (Drosophila)", "SMAD, mothers against DPP homolog 1 (Drosophila)"	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.66G>A	4.37:g.146435831G>A			A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Silent	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q22	ENST00000515385.1	37	c.66	CCDS3765.1	4																																																																																			SMAD1	-	superfamily_MAD_homology_MH1,pfscan_MAD_homology_MH1	ENSG00000170365		0.413	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD1	HGNC	protein_coding	OTTHUMT00000365467.1	-	0	25	0	G	NM_005900		146435831	1	tier1	-	no_errors	ENST00000302085	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	A	A	146435831	G	A	146435831	2	1	64	1	0	0	0	0	0	0	0	1	14802	991	35	3		3	SMAD1	4	146435831	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	802661	146435831	44718445	27	17768											
CDH9	1007	genome.wustl.edu	37	chr5	26915767	26915767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttcaggaacactggcaGtgtataagtcttttgtaaat	13	14	8	6	0	2	0	1	0	1	0	2	1	2	1	0	2	1	3	0	2	5	6			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr5:26915767G>T	ENST00000231021.4	-	3	666	c.494C>A	c.(493-495)aCt>aAt	p.T165N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AACACTGGCAGTGTATAAGTC	0.353																																					Melanoma(8;187 585 15745 40864 52829)												0													79	79	79					5																	26915767		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.494C>A	5.37:g.26915767G>T	ENSP00000231021:p.Thr165Asn		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T165N	ENST00000231021.4	37	c.494	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498354	0.26861	.	.	ENSG00000113100	ENST00000231021	T	0.51817	0.69	4.62	4.62	0.57501	Cadherin (4);Cadherin-like (1);	0.401728	0.28933	N	0.013678	T	0.22475	0.0542	N	0.02842	-0.48	0.29244	N	0.872423	B	0.09022	0.002	B	0.18263	0.021	T	0.11108	-1.0601	9	.	.	.	.	11.6384	0.51217	0.0:0.0:0.8223:0.1777	.	165	Q9ULB4	CADH9_HUMAN	N	165	ENSP00000231021:T165N	.	T	-	2	0	CDH9	26951524	0.479000	0.25925	1.000000	0.80357	0.999000	0.98932	0.933000	0.28897	2.275000	0.75901	0.650000	0.86243	ACT	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113100		0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	19	0	G	NM_016279		26915767	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	26915767	G	T	26915767	3	4	64	1	0	0	0	0	1	0	0	0	3124	1029	36	3	1915	3	CDH9	5	26915767	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		26915767	153999493	28	17769											
RAI14	26064	genome.wustl.edu	37	chr5	34823711	34823711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattgctctgttattgaGaatatgaataaggagaaagc	15	13	9	4	0	2	3	1	2	1	2	2	5	2	3	0	1	2	2	0	1	7	6			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr5:34823711G>T	ENST00000265109.3	+	15	2051	c.1764G>T	c.(1762-1764)gaG>gaT	p.E588D	RAI14_ENST00000515799.1_Missense_Mutation_p.E591D|RAI14_ENST00000506376.1_Missense_Mutation_p.E580D|RAI14_ENST00000503673.1_Missense_Mutation_p.E588D|RAI14_ENST00000512629.1_Missense_Mutation_p.E559D|RAI14_ENST00000428746.2_Missense_Mutation_p.E588D|RAI14_ENST00000397449.1_Missense_Mutation_p.E581D	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	588						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E588D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTGTTATTGAGAATATGAATA	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											57	61	60					5																	34823711		2203	4300	6503	SO:0001583	missense	0			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"Ankyrin repeat domain containing"	14873	protein-coding gene	gene with protein product	"novel retinal pigment epithelial"	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1764G>T	5.37:g.34823711G>T	ENSP00000265109:p.Glu588Asp		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E591D	ENST00000265109.3	37	c.1773	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012477	0.19277	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.38722	1.18;1.12;1.18;1.18;1.18;1.22;1.21	5.42	3.65	0.41850	.	.	.	.	.	T	0.25568	0.0622	N	0.20986	0.625	0.36213	D	0.851471	B;B;B;B	0.21606	0.037;0.058;0.02;0.058	B;B;B;B	0.21151	0.024;0.017;0.033;0.017	T	0.14144	-1.0483	9	0.35671	T	0.21	-24.4833	5.1721	0.15116	0.2298:0.0:0.6159:0.1543	.	580;559;591;588	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	D	588;559;588;588;591;580;581	ENSP00000265109:E588D;ENSP00000422377:E559D;ENSP00000388725:E588D;ENSP00000422942:E588D;ENSP00000427123:E591D;ENSP00000423854:E580D;ENSP00000380591:E581D	ENSP00000265109:E588D	E	+	3	2	RAI14	34859468	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.821000	0.48065	0.681000	0.31386	0.555000	0.69702	GAG	RAI14	-	NULL	ENSG00000039560		0.363	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1		0	27	0	G	NM_015577		34823711	1			no_errors	ENST00000515799	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	34823711	G	T	34823711	3	4	64	1	0	0	0	0	1	0	0	0	13053	933	33	3	1883	3	RAI14	5	34823711	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	7907944	34823711	146091549	29	17770											
PIK3R1	5295	genome.wustl.edu	37	chr5	67589537	67589537	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttattttaatctttctagGatcaagttgtcaaagaagat	14	17	6	4	0	4	2	2	0	2	2	4	3	4	3	0	1	0	1	0	1	6	7			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr5:67589537G>A	ENST00000521381.1	+	11	1916	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	PIK3R1_ENST00000396611.1_Splice_Site_p.D434N|PIK3R1_ENST00000521657.1_Splice_Site_p.D434N|PIK3R1_ENST00000274335.5_Splice_Site_p.D434N|PIK3R1_ENST00000523872.1_Splice_Site_p.D71N|PIK3R1_ENST00000320694.8_Splice_Site_p.D134N|PIK3R1_ENST00000336483.5_Splice_Site_p.D164N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	434					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ATCTTTCTAGGATCAAGTTGT	0.249			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"		"E, O"	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)											35	39	38					5																	67589537		2171	4259	6430	SO:0001630	splice_region_variant	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"SH2 domain containing"	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1300-1G>A	5.37:g.67589537G>A			B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.D434N	ENST00000521381.1	37	c.1300	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.202142	0.94997	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;D;T;D	0.82619	-0.47;-0.47;-0.35;-0.47;-1.5;0.83;-1.51;0.42;-1.63	4.93	4.93	0.64822	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.83953	2.67	0.80722	D	1	B;B;P;P	0.45396	0.219;0.12;0.634;0.857	B;B;B;B	0.43867	0.049;0.109;0.293;0.434	D	0.87593	0.2492	9	.	.	.	-28.1097	18.7067	0.91641	0.0:0.0:1.0:0.0	.	104;164;134;434	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	N	434;434;434;434;134;71;164;107;71	ENSP00000428056:D434N;ENSP00000429277:D434N;ENSP00000379855:D434N;ENSP00000274335:D434N;ENSP00000323512:D134N;ENSP00000431058:D71N;ENSP00000338554:D164N;ENSP00000429156:D107N;ENSP00000430098:D71N	.	D	+	1	0	PIK3R1	67625293	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.208000	0.95075	2.718000	0.92993	0.650000	0.86243	GAT	PIK3R1	-	superfamily_Guanylate-bd_C,prints_PI3kinase_P85	ENSG00000145675		0.249	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	-	0	31	0	G	NM_181504	Missense_Mutation	67589537	1	tier1	-	no_errors	ENST00000396611	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	A	A	67589537	G	A	67589537	5	1	64	1	0	0	0	0	0	0	1	0	11957	1188	41	3	1468	3	PIK3R1	5	67589537	Splice_Site	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	32765826	67589537	113325723	30	17771											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347423	140347423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtggacatcgtggacGtgaatgacaatgccccagag	10	8	14	9	2	0	3	0	2	0	1	1	5	0	5	2	3	2	1	2	3	2	0			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr5:140347423G>A	ENST00000289269.5	+	1	1604	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	358	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCGTGGACGTGAATGACAA	0.562																																					Melanoma(190;638 2083 3390 11909 52360)												0													84	70	74					5																	140347423		2203	4300	6503	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1072G>A	5.37:g.140347423G>A	ENSP00000289269:p.Val358Met		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V358M	ENST00000289269.5	37	c.1072	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	18.27	3.585870	0.66105	.	.	ENSG00000243232	ENST00000289269	T	0.63580	-0.05	5.87	5.87	0.94306	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.38005	N	0.001853	T	0.80989	0.4730	M	0.86268	2.805	0.48632	D	0.999688	D;D	0.76494	0.973;0.999	P;P	0.61592	0.606;0.891	T	0.82297	-0.0527	10	0.59425	D	0.04	.	20.206	0.98277	0.0:0.0:1.0:0.0	.	358;358	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	M	358	ENSP00000289269:V358M	ENSP00000289269:V358M	V	+	1	0	PCDHAC2	140327607	0.995000	0.38212	0.997000	0.53966	0.995000	0.86356	4.095000	0.57728	2.785000	0.95823	0.655000	0.94253	GTG	PCDHAC2	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000243232		0.562	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	-	0	52	0	G	NM_018899		140347423	1	tier1	-	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	140347423	G	A	140347423	3	1	64	1	0	0	0	0	1	0	0	0	11572	1145	40	1	1074	1	PCDHAC2	5	140347423	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	72757886	140347423	40567837	31	17772											
TREML1	340205	genome.wustl.edu	37	chr6	41119038	41119038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctcttctcatcctggctgGgttccaaagggttggcactg	6	12	11	12	0	2	0	1	0	2	0	5	0	4	0	3	4	0	4	3	4	1	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr6:41119038G>T	ENST00000426005.2	-	3	504	c.461C>A	c.(460-462)cCc>cAc	p.P154H	TREML1_ENST00000437044.2_Missense_Mutation_p.P43H|TREML1_ENST00000373127.4_Missense_Mutation_p.P154H	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	154					calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATCCTGGCTGGGTTCCAAAGG	0.517																																																	0													133	123	126					6																	41119038		2203	4300	6503	SO:0001583	missense	0			AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"Immunoglobulin superfamily / V-set domain containing"	20434	protein-coding gene	gene with protein product	"TREM-like transcript 1"	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.461C>A	6.37:g.41119038G>T	ENSP00000402855:p.Pro154His		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	pfam_Ig_V-set	p.P154H	ENST00000426005.2	37	c.461	CCDS4851.1	6	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005162	0.54254	.	.	ENSG00000161911	ENST00000373127;ENST00000437044;ENST00000426005	T;T;T	0.52295	1.58;0.67;1.68	4.75	3.69	0.42338	.	0.510486	0.18233	N	0.147510	T	0.43077	0.1231	L	0.53249	1.67	0.09310	N	0.999996	D;D;D	0.76494	0.995;0.998;0.999	P;P;D	0.65443	0.847;0.781;0.935	T	0.29518	-1.0009	10	0.66056	D	0.02	.	6.312	0.21171	0.1842:0.0:0.8158:0.0	.	43;154;154	Q86YW5-3;Q86YW5;Q86YW5-2	.;TRML1_HUMAN;.	H	154;43;154	ENSP00000362219:P154H;ENSP00000400405:P43H;ENSP00000402855:P154H	ENSP00000362219:P154H	P	-	2	0	TREML1	41227016	0.227000	0.23707	0.289000	0.24876	0.963000	0.63663	1.580000	0.36547	0.992000	0.38840	0.650000	0.86243	CCC	TREML1	-	NULL	ENSG00000161911		0.517	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TREML1	HGNC	protein_coding	OTTHUMT00000043538.2	-	0	99	0	G	NM_178174		41119038	-1	tier1	-	no_errors	ENST00000426005	ensembl	human	known	74_37	missense	26.32	56	20	SNP	0.258	T	T	41119038	G	T	41119038	3	4	64	1	0	0	0	0	1	0	0	0	16520	1232	43	3	488	3	TREML1	6	41119038	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		41119038	129996029	32	17773											
KLHL32	114792	genome.wustl.edu	37	chr6	97512566	97512566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtcacctacagctgttGgagcttctcaatttatgctc	8	13	9	11	0	2	0	2	0	1	0	4	1	2	1	1	2	4	5	1	2	3	5			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr6:97512566G>T	ENST00000369261.4	+	5	738	c.375G>T	c.(373-375)ttG>ttT	p.L125F	KLHL32_ENST00000539200.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.L89F|KLHL32_ENST00000544166.1_5'UTR	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	125										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TACAGCTGTTGGAGCTTCTCA	0.458																																																	0													144	107	120					6																	97512566		2203	4300	6503	SO:0001583	missense	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.375G>T	6.37:g.97512566G>T	ENSP00000358265:p.Leu125Phe		B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L125F	ENST00000369261.4	37	c.375	CCDS5038.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142131	0.77775	.	.	ENSG00000186231	ENST00000369255;ENST00000369261;ENST00000536676;ENST00000369254;ENST00000447886	T;T;T;T	0.67523	-0.27;1.93;-0.27;1.83	5.54	4.68	0.58851	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	T	0.64746	0.2626	L	0.31578	0.945	0.80722	D	1	D;D;D	0.76494	0.995;0.995;0.999	D;D;D	0.72982	0.979;0.934;0.971	T	0.70306	-0.4908	10	0.54805	T	0.06	.	14.5577	0.68113	0.0697:0.0:0.9303:0.0	.	89;125;125	B7Z346;Q96NJ5;Q6IQ08	.;KLH32_HUMAN;.	F	51;125;89;125;21	ENSP00000358265:L125F;ENSP00000440382:L89F;ENSP00000358258:L125F;ENSP00000389310:L21F	ENSP00000358258:L125F	L	+	3	2	KLHL32	97619287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.739000	0.68622	1.587000	0.49959	-0.145000	0.13849	TTG	KLHL32	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000186231		0.458	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1	-	0	39	0	G	NM_052904		97512566	1	tier1	-	no_errors	ENST00000369261	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	97512566	G	T	97512566	3	4	64	1	0	0	0	0	1	0	0	0	8413	1339	47	3	389	3	KLHL32	6	97512566	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	56393528	97512566	73602501	33	17774											
ASCC3	10973	genome.wustl.edu	37	chr6	101103625	101103625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatggatttgctctcatccGtacataaagataagtgtaac	14	13	7	7	1	1	1	1	0	1	1	3	2	2	2	1	1	3	3	1	1	6	6	rs371587845		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr6:101103625G>A	ENST00000369162.2	-	17	3117	c.2773C>T	c.(2773-2775)Cgg>Tgg	p.R925W		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	925					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCTCTCATCCGTACATAAAGA	0.343																																																	0								G	TRP/ARG	0,4406		0,0,2203	108	103	105		2773	5.8	1	6		105	1,8599		0,1,4299	no	missense	ASCC3	NM_006828.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	925/2203	101103625	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2773C>T	6.37:g.101103625G>A	ENSP00000358159:p.Arg925Trp		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R925W	ENST00000369162.2	37	c.2773	CCDS5046.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.302908	0.95601	0.0	1.16E-4	ENSG00000112249	ENST00000369162	T	0.46819	0.86	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89145	0.3519	10	0.87932	D	0	.	19.9946	0.97381	0.0:0.0:1.0:0.0	.	925	Q8N3C0	HELC1_HUMAN	W	925	ENSP00000358159:R925W	ENSP00000358159:R925W	R	-	1	2	ASCC3	101210346	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.414000	0.97362	2.728000	0.93425	0.591000	0.81541	CGG	ASCC3	-	NULL	ENSG00000112249		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2		0	17	0	G	NM_006828		101103625	-1			no_errors	ENST00000369162	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	A	A	101103625	G	A	101103625	3	1	64	1	0	0	0	0	1	0	0	0	1034	1144	40	1	3939	1	ASCC3	6	101103625	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	3591059	101103625	70011442	34	17775											
MAP3K5	4217	genome.wustl.edu	37	chr6	137018434	137018434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatattatctactcgctgccGaattcttgccaactcagctg	9	13	7	12	2	3	0	1	0	2	0	4	2	3	0	2	0	5	2	2	0	5	5			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr6:137018434G>A	ENST00000359015.4	-	5	1258	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	300					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTCGCTGCCGAATTCTTGCC	0.388																																																	0													118	120	119					6																	137018434		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.898C>T	6.37:g.137018434G>A	ENSP00000351908:p.Arg300Trp		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R300W	ENST00000359015.4	37	c.898	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923161	0.92319	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.12361	2.69	5.32	4.44	0.53790	.	0.120261	0.64402	D	0.000017	T	0.24431	0.0592	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.70935	0.953;0.971;0.916	T	0.03706	-1.1011	10	0.87932	D	0	.	15.5756	0.76380	0.0:0.0:0.8608:0.1392	.	380;145;300	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	W	300;380	ENSP00000351908:R300W	ENSP00000351908:R300W	R	-	1	2	MAP3K5	137060127	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.508000	0.81686	1.341000	0.45600	0.591000	0.81541	CGG	MAP3K5	-	NULL	ENSG00000197442		0.388	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	29	0	G			137018434	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	A	A	137018434	G	A	137018434	3	1	64	1	0	0	0	0	1	0	0	0	9291	1057	37	1	3330	1	MAP3K5	6	137018434	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	35914809	137018434	34096633	35	17776											
HIVEP2	3097	genome.wustl.edu	37	chr6	143092631	143092631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgaaggaagcttgcCgcaccagaaagcatttcttc	12	8	9	12	1	1	2	0	1	1	1	2	3	1	3	3	1	4	3	3	1	3	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr6:143092631C>T	ENST00000367604.1	-	4	3884	c.3245G>A	c.(3244-3246)cGg>cAg	p.R1082Q	HIVEP2_ENST00000367603.2_Missense_Mutation_p.R1082Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1082Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1082					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGAAGCTTGCCGCACCAGAAA	0.562																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													49	52	51					6																	143092631		2060	4221	6281	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3245G>A	6.37:g.143092631C>T	ENSP00000356576:p.Arg1082Gln		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1082Q	ENST00000367604.1	37	c.3245	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801606	0.90538	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.58797	0.31;0.31;0.31	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80144	-0.1505	10	0.87932	D	0	-19.3009	19.7763	0.96395	0.0:1.0:0.0:0.0	.	1082	P31629	ZEP2_HUMAN	Q	1082	ENSP00000356576:R1082Q;ENSP00000356575:R1082Q;ENSP00000012134:R1082Q	ENSP00000012134:R1082Q	R	-	2	0	HIVEP2	143134324	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	7.726000	0.84824	2.687000	0.91594	0.563000	0.77884	CGG	HIVEP2	-	NULL	ENSG00000010818		0.562	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0	30	0	C			143092631	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	T	T	143092631	C	T	143092631	3	4	64	1	0	0	0	0	1	0	0	0	7214	652	23	1	4119	1	HIVEP2	6	143092631	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	6074197	143092631	28022436	36	17777											
HIVEP2	3097	genome.wustl.edu	37	chr6	143094119	143094119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttagcatgcgctgaGggggtatgcccacggtccct	5	11	13	12	2	2	1	0	1	2	0	3	1	3	1	2	3	3	3	2	3	2	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr6:143094119G>A	ENST00000367604.1	-	4	2396	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L	HIVEP2_ENST00000367603.2_Missense_Mutation_p.P586L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P586L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CATGCGCTGAGGGGGTATGCC	0.512																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													85	85	85					6																	143094119		2003	4176	6179	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1757C>T	6.37:g.143094119G>A	ENSP00000356576:p.Pro586Leu		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P586L	ENST00000367604.1	37	c.1757	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146993	0.57151	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.10860	2.83;2.83;2.83	5.48	5.48	0.80851	.	0.221347	0.37809	N	0.001936	T	0.08447	0.0210	L	0.44542	1.39	0.46586	D	0.999114	D	0.53619	0.961	P	0.49637	0.617	T	0.22034	-1.0228	10	0.28530	T	0.3	-0.0139	13.3905	0.60821	0.0:0.0:0.7365:0.2635	.	586	P31629	ZEP2_HUMAN	L	586	ENSP00000356576:P586L;ENSP00000356575:P586L;ENSP00000012134:P586L	ENSP00000012134:P586L	P	-	2	0	HIVEP2	143135812	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.086000	0.57664	2.566000	0.86566	0.655000	0.94253	CCT	HIVEP2	-	NULL	ENSG00000010818		0.512	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1		0	14	0	G			143094119	-1			no_errors	ENST00000012134	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.995	A	A	143094119	G	A	143094119	3	1	64	1	0	0	0	0	1	0	0	0	7214	1000	35	3	5607	3	HIVEP2	6	143094119	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	1488	143094119	28020948	37	17778											
LFNG	3955	genome.wustl.edu	37	chr7	2565992	2565992	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcagcggcctcttccaCtcccacctggagaacctgca	8	7	8	18	2	1	1	0	0	1	1	4	2	4	1	6	2	3	2	6	2	1	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr7:2565992C>T	ENST00000222725.5	+	6	956	c.936C>T	c.(934-936)caC>caT	p.H312H	LFNG_ENST00000359574.3_Silent_p.H312H|LFNG_ENST00000402506.1_Silent_p.H241H|LFNG_ENST00000338732.3_Silent_p.H183H|LFNG_ENST00000402045.1_Silent_p.H183H|MIR4648_ENST00000580107.1_RNA	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	312					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GCCTCTTCCACTCCCACCTGG	0.662																																																	0													56	61	59					7																	2565992		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"Beta 3-glycosyltransferases"	6560	protein-coding gene	gene with protein product		602576	"lunatic fringe (Drosophila) homolog", "lunatic fringe homolog (Drosophila)"			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.936C>T	7.37:g.2565992C>T			B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	pfam_Fringe-like,pirsf_Fringe	p.H312	ENST00000222725.5	37	c.936	CCDS34587.1	7																																																																																			LFNG	-	pfam_Fringe-like,pirsf_Fringe	ENSG00000106003		0.662	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LFNG	HGNC	protein_coding	OTTHUMT00000325021.1	-	0	39	0	C	NM_002304		2565992	1	tier1	-	no_errors	ENST00000222725	ensembl	human	known	74_37	silent	22.92	37	11	SNP	1.000	T	T	2565992	C	T	2565992	2	4	64	1	0	0	0	0	0	0	0	1	8765	564	20	3		3	LFNG	7	2565992	Silent	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09		2565992	156572671	38	17779											
MLL3	58508	genome.wustl.edu	37	chr7	151848559	151848559	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagatctttgaaagattTccgcacaccacttccaagaa	13	10	7	11	1	2	4	1	1	1	3	4	4	4	4	3	1	0	1	3	1	3	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr7:151848559T>A	ENST00000262189.6	-	50	12852	c.12634A>T	c.(12634-12636)Aaa>Taa	p.K4212*	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Nonsense_Mutation_p.K4269*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4212					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGAAAGATTTCCGCACACCA	0.443																																																	0													104	88	94					7																	151848559		2203	4300	6503	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12634A>T	7.37:g.151848559T>A	ENSP00000262189:p.Lys4212*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K4269*	ENST00000262189.6	37	c.12805	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	55|55	24.514590|24.514590	0.99961|0.99961	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|.	.|.	.|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.000000	.|0.47093	.|U	.|0.000259	T|.	0.42404|.	0.1201|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34279|.	-0.9835|.	4|.	.|0.02654	.|T	.|1	.|.	15.1642|15.1642	0.72807|0.72807	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	V|X	1772|4212;4269;829	.|.	.|ENSP00000262189:K4212X	E|K	-|-	2|1	0|0	MLL3|MLL3	151479492|151479492	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.988000|0.988000	0.76386|0.76386	7.499000|7.499000	0.81566|0.81566	1.984000|1.984000	0.57885|0.57885	0.528000|0.528000	0.53228|0.53228	GAA|AAA	KMT2C	-	NULL	ENSG00000055609		0.443	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	33	0	T			151848559	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	nonsense	70.59	5	12	SNP	1.000	A	A	151848559	T	A	151848559	4	1	64	1	0	0	0	0	0	1	0	0	9660	1792	62	5	2141	5	MLL3	7	151848559	Nonsense_Mutation	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09	149282567	151848559	7290104	39	17780											
AMAC1L2	83650	genome.wustl.edu	37	chr8	11188922	11188922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctgacatccgaggcTgggcctgcttctgtgccctg	4	10	12	15	1	1	1	0	1	1	0	3	3	3	1	5	2	2	2	5	2	0	1	rs76944947	byFrequency	TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr8:11188922T>C	ENST00000382435.4	+	1	526	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	103	EamA 1.					integral component of membrane (GO:0016021)		p.W103R(1)									CATCCGAGGCTGGGCCTGCTT	0.602																																																	1	Substitution - Missense(1)	pancreas(1)											216	216	216					8																	11188922		2203	4300	6503	SO:0001583	missense	0			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.307T>C	8.37:g.11188922T>C	ENSP00000371872:p.Trp103Arg		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.W103R	ENST00000382435.4	37	c.307	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	t	0	-2.642709	0.00112	.	.	ENSG00000177710	ENST00000382435	T	0.69306	-0.39	0.34	-0.68	0.11346	.	0.244821	0.21560	N	0.072582	T	0.30665	0.0772	N	0.01168	-0.975	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.23891	T	0.37	-0.4591	6.793	0.23709	0.0:0.7448:0.0:0.2552	.	103	Q96KT7	S35G5_HUMAN	R	103	ENSP00000371872:W103R	ENSP00000371872:W103R	W	+	1	0	SLC35G5	11226332	0.010000	0.17322	0.030000	0.17652	0.042000	0.13812	0.106000	0.15354	-2.178000	0.00768	-2.006000	0.00442	TGG	SLC35G5	-	pfam_DMT	ENSG00000177710		0.602	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	-	0	96	0	T	NM_054028		11188922	1	tier1	rs76944947	no_errors	ENST00000382435	ensembl	human	known	74_37	missense	7.78	83	7	SNP	0.984	C	C	11188922	T	C	11188922	3	2	64	1	0	0	0	0	1	0	0	0	560	1580	55	4	309	4	AMAC1L2	8	11188922	Missense_Mutation	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09		11188922	135175100	40	17781											
MAPK15	225689	genome.wustl.edu	37	chr8	144804294	144804294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggccggaggatgttcaGcacctctgccttgcagggtg	5	8	15	13	2	2	0	1	0	1	0	2	2	2	2	4	4	3	3	4	4	0	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr8:144804294G>A	ENST00000338033.4	+	14	1627	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	503					MAPK cascade (GO:0000165)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|SH3 domain binding (GO:0017124)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGATGTTCAGCACCTCTGCC	0.667																																																	0													54	63	60					8																	144804294		1918	4108	6026	SO:0001583	missense	0			AY065978	CCDS6409.2	8q24.3	2011-06-09			ENSG00000181085	ENSG00000181085		"Mitogen-activated protein kinase cascade / Kinases"	24667	protein-coding gene	gene with protein product	"extracellular signal regulated kinase 8"					11875070	Standard	XM_006716528		Approved	ERK8, ERK7	uc003yzj.3	Q8TD08	OTTHUMG00000146450	ENST00000338033.4:c.1508G>A	8.37:g.144804294G>A	ENSP00000337691:p.Ser503Asn		Q2TCF9|Q8N362	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S503N	ENST00000338033.4	37	c.1508	CCDS6409.2	8	.	.	.	.	.	.	.	.	.	.	g	0.367	-0.936149	0.02340	.	.	ENSG00000181085	ENST00000338033	T	0.72835	-0.69	3.13	1.16	0.20824	.	0.512037	0.20821	U	0.085069	T	0.40196	0.1107	N	0.14661	0.345	0.09310	N	0.999993	B	0.29716	0.255	B	0.23275	0.045	T	0.12426	-1.0548	10	0.10636	T	0.68	-7.9972	2.3783	0.04347	0.3205:0.2976:0.3819:0.0	.	503	Q8TD08	MK15_HUMAN	N	503	ENSP00000337691:S503N	ENSP00000337691:S503N	S	+	2	0	MAPK15	144876282	0.021000	0.18746	0.009000	0.14445	0.751000	0.42716	2.188000	0.42612	0.607000	0.29982	0.455000	0.32223	AGC	MAPK15	-	NULL	ENSG00000181085		0.667	MAPK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK15	HGNC	protein_coding	OTTHUMT00000300348.1	-	0	35	0	G	NM_139021		144804294	1	tier1	-	no_errors	ENST00000338033	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.012	A	A	144804294	G	A	144804294	3	1	64	1	0	0	0	0	1	0	0	0	9315	971	34	3	1562	3	MAPK15	8	144804294	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	133615372	144804294	1559728	41	17782											
DENND1A	57706	genome.wustl.edu	37	chr9	126144060	126144060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcatctggccaaagaggTtgggcatggagagggcggag	9	6	20	6	1	1	2	0	0	1	2	1	4	1	3	1	7	0	3	1	7	1	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr9:126144060T>G	ENST00000373624.2	-	22	2882	c.2681A>C	c.(2680-2682)aAc>aCc	p.N894T	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.N905T|DENND1A_ENST00000542603.1_Missense_Mutation_p.N679T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	894	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCAAAGAGGTTGGGCATGGA	0.677																																																	0													7	7	7					9																	126144060		2091	4127	6218	SO:0001583	missense	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2681A>C	9.37:g.126144060T>G	ENSP00000362727:p.Asn894Thr		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.N905T	ENST00000373624.2	37	c.2714	CCDS35133.1	9	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508057	0.64410	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.29655	3.03;1.56;2.88	4.79	4.79	0.61399	.	0.208186	0.41097	D	0.000958	T	0.44498	0.1296	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.997;0.993	D;D;D;P	0.78314	0.991;0.991;0.98;0.777	T	0.45234	-0.9275	10	0.87932	D	0	-23.1628	14.3632	0.66787	0.0:0.0:0.0:1.0	.	905;895;894;757	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	T	894;679;905	ENSP00000362727:N894T;ENSP00000437457:N679T;ENSP00000377766:N905T	ENSP00000362727:N894T	N	-	2	0	DENND1A	125183881	0.994000	0.37717	1.000000	0.80357	0.926000	0.56050	2.569000	0.45973	1.805000	0.52779	0.454000	0.30748	AAC	DENND1A	-	NULL	ENSG00000119522		0.677	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1	-	0	82	0	T	NM_024820		126144060	-1	tier1	-	no_errors	ENST00000394219	ensembl	human	known	74_37	missense	12.00	66	9	SNP	0.994	G	G	126144060	T	G	126144060	3	3	64	1	0	0	0	0	1	0	0	0	4440	1725	60	4	352	4	DENND1A	9	126144060	Missense_Mutation	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09		126144060	15069371	42	17783											
PCDH15	65217	genome.wustl.edu	37	chr10	55782711	55782711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaacaaggacagtgtatgTtgaattggtgaacacaggac	14	10	11	6	0	1	2	1	2	0	0	1	4	1	4	0	3	2	2	0	3	5	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr10:55782711T>G	ENST00000320301.6	-	19	2861	c.2467A>C	c.(2467-2469)Aca>Cca	p.T823P	PCDH15_ENST00000373965.2_Missense_Mutation_p.T830P|PCDH15_ENST00000395438.1_Missense_Mutation_p.T823P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.T823P|PCDH15_ENST00000395433.1_Missense_Mutation_p.T801P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.T830P|PCDH15_ENST00000437009.1_Missense_Mutation_p.T752P|PCDH15_ENST00000409834.1_Missense_Mutation_p.T434P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.T786P|PCDH15_ENST00000414778.1_Missense_Mutation_p.T828P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T823P|PCDH15_ENST00000395430.1_Missense_Mutation_p.T823P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	823	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAGTGTATGTTGAATTGGTG	0.423										HNSCC(58;0.16)																																							0													183	164	170					10																	55782711		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2467A>C	10.37:g.55782711T>G	ENSP00000322604:p.Thr823Pro		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T823P	ENST00000320301.6	37	c.2467	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011177	0.54361	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.67	4.47	0.54385	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.38453	0.1041	N	0.17345	0.48	0.31677	N	0.64367	D;D;D;P;D;D;D;P;D;P;B;P;P;D	0.69078	0.996;0.964;0.964;0.928;0.997;0.984;0.996;0.955;0.964;0.885;0.173;0.729;0.942;0.964	D;P;P;P;D;P;D;P;P;P;B;P;P;P	0.64144	0.917;0.737;0.65;0.65;0.922;0.737;0.917;0.616;0.737;0.53;0.05;0.493;0.642;0.65	T	0.31558	-0.9939	9	0.35671	T	0.21	.	10.5258	0.44948	0.207:0.0:0.0:0.7929	.	801;823;823;828;752;786;823;823;830;830;823;828;823;823	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	P	830;828;823;823;434;830;786;823;801;823;823;828;752;823	ENSP00000363076:T830P;ENSP00000410304:T828P;ENSP00000378826:T823P;ENSP00000386693:T434P;ENSP00000378832:T830P;ENSP00000378820:T786P;ENSP00000354950:T823P;ENSP00000378821:T801P;ENSP00000322604:T823P;ENSP00000378818:T823P;ENSP00000412628:T752P;ENSP00000363066:T823P	ENSP00000322604:T823P	T	-	1	0	PCDH15	55452717	0.813000	0.29090	1.000000	0.80357	0.847000	0.48162	1.067000	0.30616	2.285000	0.76669	0.477000	0.44152	ACA	PCDH15	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	56	0	T	NM_033056		55782711	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	40.00	20	14	SNP	0.954	G	G	55782711	T	G	55782711	3	3	64	1	0	0	0	0	1	0	0	0	11550	1725	60	4	5079	4	PCDH15	10	55782711	Missense_Mutation	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09		55782711	79752036	43	17784											
DNA2	1763	genome.wustl.edu	37	chr10	70231769	70231770	+	5'Flank	INS	-	-	GT																															ccaaatgacctgcgccaggcINScgcccctcccgcgccggcgc																										TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr10:70231769_70231770insGT	ENST00000358410.3	-	0	0				DNA2_ENST00000399179.2_5'UTR|DNA2_ENST00000399180.2_Frame_Shift_Ins_p.R37fs	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CTGCGCCAGGCCGCCCCTCCCG	0.653																																																	0																																										SO:0001631	upstream_gene_variant	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352		10.37:g.70231769_70231770insGT	Exception_encountered		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Frame_Shift_Ins	INS	pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase	p.P38fs	ENST00000358410.3	37	c.111_110		10																																																																																			DNA2	-	NULL	ENSG00000138346		0.653	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2		0	31	0	-			70231770	-1	tier1		no_errors	ENST00000399180	ensembl	human	known	74_37	frame_shift_ins	22.22	7	2	INS	0.000:0.000	GT	GT	70231770	-	GT	70231769	6	5	64	0	1	1	1	0	0	0	0	0	4610	726	26	0		0	DNA2	10	70231769	5'Flank	INS	-	TCGA-L5-A4OQ-01A-11D-A27G-09	14449058	70231769	65302978	44	17785											
VCL	7414	genome.wustl.edu	37	chr10	75873970	75873970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcattgcagcagccaagcGcatggctctgctgatggctg	8	9	12	12	1	2	1	1	1	1	0	2	1	2	1	1	2	5	6	1	2	1	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr10:75873970G>A	ENST00000211998.4	+	20	3072	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	VCL_ENST00000417648.2_Missense_Mutation_p.R186H|VCL_ENST00000372755.3_Missense_Mutation_p.R925H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	993	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCAGCCAAGCGCATGGCTCTG	0.562																																																	0													85	70	75					10																	75873970		2203	4300	6503	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2978G>A	10.37:g.75873970G>A	ENSP00000211998:p.Arg993His		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R993H	ENST00000211998.4	37	c.2978	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.460829	0.96240	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.28504	0.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.982;0.986;0.936;0.976	T	0.45934	-0.9227	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	186;852;925;993	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	H	925;993;186;900;852;665	ENSP00000361841:R925H;ENSP00000211998:R993H;ENSP00000411887:R186H;ENSP00000415489:R665H	ENSP00000211998:R993H	R	+	2	0	VCL	75543976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CGC	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.562	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding			0	35	0	G	NM_003373, NM_014000		75873970	1			no_errors	ENST00000211998	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	A	A	75873970	G	A	75873970	3	1	64	1	0	0	0	0	1	0	0	0	17188	1087	38	1	3056	1	VCL	10	75873970	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	5642201	75873970	59660777	45	17786											
ELOVL3	83401	genome.wustl.edu	37	chr10	103988606	103988606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagccttcatcatcctgcGtaagcggccactcatcttta	9	11	6	15	2	4	0	3	0	1	0	5	0	5	0	3	1	3	1	3	1	2	4	rs149375895	byFrequency	TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr10:103988606G>A	ENST00000370005.3	+	4	631	c.410G>A	c.(409-411)cGt>cAt	p.R137H		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	137					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ATCATCCTGCGTAAGCGGCCA	0.542																																																	0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	138	129	132		410	3.4	0.7	10	dbSNP_134	132	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ELOVL3	NM_152310.1	29	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	probably-damaging	137/271	103988606	5,13001	2203	4300	6503	SO:0001583	missense	0			AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.410G>A	10.37:g.103988606G>A	ENSP00000359022:p.Arg137His		Q5VZL3|Q8N180	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.R137H	ENST00000370005.3	37	c.410	CCDS7531.1	10	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604785	0.87157	4.54E-4	3.49E-4	ENSG00000119915	ENST00000370005	T	0.27890	1.64	5.24	3.39	0.38822	.	0.000000	0.64402	D	0.000015	T	0.54334	0.1852	M	0.81112	2.525	0.43287	D	0.995262	D	0.89917	1.0	D	0.79108	0.992	T	0.56420	-0.7982	10	0.72032	D	0.01	-23.3653	10.6819	0.45819	0.1576:0.0:0.8424:0.0	.	137	Q9HB03	ELOV3_HUMAN	H	137	ENSP00000359022:R137H	ENSP00000359022:R137H	R	+	2	0	ELOVL3	103978596	1.000000	0.71417	0.744000	0.31058	0.998000	0.95712	8.014000	0.88676	0.595000	0.29777	0.561000	0.74099	CGT	ELOVL3	-	pfam_GNS1_SUR4	ENSG00000119915		0.542	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL3	HGNC	protein_coding	OTTHUMT00000050030.1	-	0	50	0	G	NM_152310		103988606	1	tier1	rs149375895	no_errors	ENST00000370005	ensembl	human	known	74_37	missense	28.57	20	8	SNP	0.995	A	A	103988606	G	A	103988606	3	1	64	1	0	0	0	0	1	0	0	0	5091	1145	40	1	424	1	ELOVL3	10	103988606	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	28114636	103988606	31546141	46	17787											
XPNPEP1	7511	genome.wustl.edu	37	chr10	111647946	111647946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttggccattttcttccaAtaatctgaggagacacattg	11	14	7	9	0	2	2	0	1	2	1	3	3	3	2	2	2	0	0	2	2	2	6			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr10:111647946A>G	ENST00000502935.1	-	7	632	c.513T>C	c.(511-513)taT>taC	p.Y171Y	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Silent_p.Y128Y|XPNPEP1_ENST00000322238.8_Silent_p.Y171Y|XPNPEP1_ENST00000369683.1_Silent_p.Y57Y					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TTTTCTTCCAATAATCTGAGG	0.542																																																	0													52	48	49					10																	111647946		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"X-prolyl aminopeptidase (aminopeptidase P)-like"	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.513T>C	10.37:g.111647946A>G				Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.Y171	ENST00000502935.1	37	c.513	CCDS7560.2	10																																																																																			XPNPEP1	-	pfam_Creatinase	ENSG00000108039		0.542	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2		0	29	0	A			111647946	-1			no_errors	ENST00000502935	ensembl	human	known	74_37	silent	24.00	19	6	SNP	1.000	G	G	111647946	A	G	111647946	2	3	64	1	0	0	0	0	0	0	0	1	17491	108	4	4		4	XPNPEP1	10	111647946	Silent	SNP	A	TCGA-L5-A4OQ-01A-11D-A27G-09	7659340	111647946	23886801	47	17788											
ATHL1	80162	genome.wustl.edu	37	chr11	292904	292904	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgcagctatttcgaGaggctggtggctgggacgtg	7	9	17	8	2	0	1	0	0	0	1	1	4	0	3	1	5	2	4	1	5	1	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr11:292904G>T	ENST00000409548.2	+	7	1292	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*	ATHL1_ENST00000409655.1_Nonsense_Mutation_p.E216*|ATHL1_ENST00000409479.1_Nonsense_Mutation_p.E393*	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	393					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTATTTCGAGAGGCTGGTGG	0.627																																																	0													72	67	69					11																	292904		2203	4300	6503	SO:0001587	stop_gained	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.1177G>T	11.37:g.292904G>T	ENSP00000387185:p.Glu393*		Q658X8|Q8TEG9|Q9H635	Nonsense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.E393*	ENST00000409548.2	37	c.1177	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	G	41	8.968279	0.99019	.	.	ENSG00000142102	ENST00000409548;ENST00000409655;ENST00000409479	.	.	.	4.65	3.67	0.42095	.	0.433812	0.23914	N	0.043315	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	7.3449	0.26658	0.096:0.1718:0.7322:0.0	.	.	.	.	X	393;216;393	.	ENSP00000387099:E393X	E	+	1	0	ATHL1	282904	0.989000	0.36119	0.876000	0.34364	0.857000	0.48899	2.013000	0.40942	2.130000	0.65690	0.561000	0.74099	GAG	ATHL1	-	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	ENSG00000142102		0.627	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	-	0	53	0	G	NM_025092		292904	1	tier1	-	no_errors	ENST00000409548	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	0.589	T	T	292904	G	T	292904	4	4	64	1	0	0	0	0	0	1	0	0	1105	943	33	3	1199	3	ATHL1	11	292904	Nonsense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		292904	134713612	48	17789											
PHRF1	57661	genome.wustl.edu	37	chr11	597555	597555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccggaaccggatctccacGgccaggagggtccaggtggg	9	4	16	12	3	1	0	0	0	1	0	3	3	2	3	5	7	2	0	5	7	2	0			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr11:597555G>A	ENST00000264555.5	+	8	1007	c.879G>A	c.(877-879)acG>acA	p.T293T	PHRF1_ENST00000413872.2_Silent_p.T292T|PHRF1_ENST00000533464.1_Silent_p.T289T|PHRF1_ENST00000416188.2_Silent_p.T293T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	293	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGATCTCCACGGCCAGGAGGG	0.672																																																	0																																										SO:0001819	synonymous_variant	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	24351	protein-coding gene	gene with protein product	"CTD binding SR like protein rA9", "protein phosphatase 1, regulatory subunit 125"	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.879G>A	11.37:g.597555G>A			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T293	ENST00000264555.5	37	c.879		11																																																																																			PHRF1	-	NULL	ENSG00000070047		0.672	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1		0	37	0	G	NM_020901		597555	1			no_errors	ENST00000264555	ensembl	human	known	74_37	silent	30.00	14	6	SNP	0.013	A	A	597555	G	A	597555	2	1	64	1	0	0	0	0	0	0	0	1	11900	1103	39	1		1	PHRF1	11	597555	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	304651	597555	134408961	49	17790											
MUC5B	727897	genome.wustl.edu	37	chr11	1267550	1267550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagccactacaactgcagCcactggccccacggccaccc	10	3	8	20	1	0	0	0	0	0	0	0	0	0	0	6	2	6	2	6	2	2	1	rs201362727	byFrequency	TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr11:1267550C>G	ENST00000529681.1	+	31	9498	c.9440C>G	c.(9439-9441)gCc>gGc	p.A3147G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A3150G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3147	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAACTGCAGCCACTGGCCCC	0.662																																																	0													47	61	57					11																	1267550		2021	4131	6152	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9440C>G	11.37:g.1267550C>G	ENSP00000436812:p.Ala3147Gly		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A3150G	ENST00000529681.1	37	c.9449	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.947	-0.217634	0.06101	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000538459	T;T	0.21031	2.03;2.21	1.47	-2.94	0.05581	.	.	.	.	.	T	0.12902	0.0313	L	0.43152	1.355	0.09310	N	1	B;P	0.42409	0.435;0.779	B;B	0.32393	0.101;0.145	T	0.02617	-1.1133	9	0.87932	D	0	.	6.2595	0.20891	0.0:0.545:0.134:0.321	rs61732888	3730;3150	A7Y9J9;E9PBJ0	.;.	G	3147;3150;3119;3107;37	ENSP00000436812:A3147G;ENSP00000415793:A3150G	ENSP00000343037:A3119G	A	+	2	0	MUC5B	1224126	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.402000	0.20965	-2.219000	0.00729	-0.706000	0.03657	GCC	MUC5B	-	NULL	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2		0	91	0	C	XM_001126093		1267550	1			no_errors	ENST00000447027	ensembl	human	known	74_37	missense	8.51	42	4	SNP	0.000	G	G	1267550	C	G	1267550	3	3	64	1	0	0	0	0	1	0	0	0	10017	739	26	5	9571	5	MUC5B	11	1267550	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	669995	1267550	133738966	50	17791											
OR10A5	144124	genome.wustl.edu	37	chr11	6867799	6867799	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatctacagcttgagaaatAgcgaggtgaagaatgccctc	13	10	10	8	1	1	3	0	2	1	2	2	5	1	3	1	1	4	1	1	1	6	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr11:6867799A>T	ENST00000299454.4	+	1	917	c.886A>T	c.(886-888)Agc>Tgc	p.S296C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S300C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTGAGAAATAGCGAGGTGAA	0.423																																					Pancreas(44;21 1072 25662 28041 45559)												0													94	96	96					11																	6867799		2201	4296	6497	SO:0001583	missense	0			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"GPCR / Class A : Olfactory receptors"	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.886A>T	11.37:g.6867799A>T	ENSP00000299454:p.Ser296Cys		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S300C	ENST00000299454.4	37	c.898	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	14.64	2.596725	0.46318	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.39997	1.05;1.05	3.59	3.59	0.41128	.	0.765111	0.12222	N	0.488301	T	0.39809	0.1092	L	0.39245	1.2	0.25691	N	0.985686	P	0.42456	0.78	B	0.43990	0.438	T	0.28170	-1.0052	10	0.87932	D	0	.	10.7772	0.46356	1.0:0.0:0.0:0.0	.	296	Q9H207	O10A5_HUMAN	C	296;300	ENSP00000299454:S296C;ENSP00000369159:S300C	ENSP00000299454:S296C	S	+	1	0	OR10A5	6824375	0.007000	0.16637	0.980000	0.43619	0.308000	0.27856	0.937000	0.28951	1.839000	0.53478	0.482000	0.46254	AGC	OR10A5	-	prints_GPCR_Rhodpsn	ENSG00000166363		0.423	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1	-	0	31	0	A	NM_178168		6867799	1	tier1	-	no_errors	ENST00000379831	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.999	T	T	6867799	A	T	6867799	3	4	64	1	0	0	0	0	1	0	0	0	10932	420	15	5	888	5	OR10A5	11	6867799	Missense_Mutation	SNP	A	TCGA-L5-A4OQ-01A-11D-A27G-09	5600249	6867799	128138717	51	17792											
OR4A47	403253	genome.wustl.edu	37	chr11	48510925	48510925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgacacccatgctattgGcctcttagtggtggccaatg	8	11	10	12	0	1	1	0	1	1	0	1	1	1	1	3	3	1	1	3	3	3	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr11:48510925G>T	ENST00000446524.1	+	1	657	c.581G>T	c.(580-582)gGc>gTc	p.G194V		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CATGCTATTGGCCTCTTAGTG	0.438																																																	0													141	137	138					11																	48510925		2200	4297	6497	SO:0001583	missense	0			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.581G>T	11.37:g.48510925G>T	ENSP00000412752:p.Gly194Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G194V	ENST00000446524.1	37	c.581	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	9.979	1.227703	0.22542	.	.	ENSG00000237388	ENST00000446524	T	0.00091	8.74	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.348806	0.24633	N	0.036865	T	0.00300	0.0009	L	0.41710	1.295	0.22858	N	0.998647	D	0.89917	1.0	D	0.79784	0.993	T	0.58853	-0.7563	10	0.87932	D	0	.	10.1905	0.43024	0.0:0.0:0.8009:0.1991	.	194	Q6IF82	O4A47_HUMAN	V	194	ENSP00000412752:G194V	ENSP00000412752:G194V	G	+	2	0	OR4A47	48467501	0.000000	0.05858	0.092000	0.20876	0.294000	0.27393	-0.004000	0.12878	2.082000	0.62665	0.205000	0.17691	GGC	OR4A47	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000237388		0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1		0	65	0	G	NM_001005512		48510925	1			no_errors	ENST00000446524	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.009	T	T	48510925	G	T	48510925	3	4	64	1	0	0	0	0	1	0	0	0	11081	1203	42	3	583	3	OR4A47	11	48510925	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	41643126	48510925	86495591	52	17793											
OR5M9	390162	genome.wustl.edu	37	chr11	56230100	56230100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggattcctcagtgggtcTcctgagatacatgaagatgg	10	11	12	8	1	2	3	1	2	1	2	4	5	3	4	2	3	2	0	2	3	3	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr11:56230100T>C	ENST00000279791.1	-	1	777	c.778A>G	c.(778-780)Aga>Gga	p.R260G		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCAGTGGGTCTCCTGAGATAC	0.498																																																	0													66	60	62					11																	56230100		2201	4296	6497	SO:0001583	missense	0			AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"GPCR / Class A : Olfactory receptors"	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.778A>G	11.37:g.56230100T>C	ENSP00000279791:p.Arg260Gly		Q6IEW5|Q96RB9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R260G	ENST00000279791.1	37	c.778	CCDS31531.1	11	.	.	.	.	.	.	.	.	.	.	T	3.688	-0.064181	0.07273	.	.	ENSG00000150269	ENST00000279791	T	0.00099	8.73	3.87	-7.73	0.01245	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000897	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	B	0.30973	0.302	B	0.39339	0.297	T	0.43097	-0.9412	10	0.87932	D	0	-5.5793	9.6364	0.39811	0.1509:0.0:0.1409:0.7082	.	260	Q8NGP3	OR5M9_HUMAN	G	260	ENSP00000279791:R260G	ENSP00000279791:R260G	R	-	1	2	OR5M9	55986676	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.047000	0.14056	-2.320000	0.00642	-0.504000	0.04507	AGA	OR5M9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000150269		0.498	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M9	HGNC	protein_coding	OTTHUMT00000391638.1	-	0	58	0	T	NM_001004743		56230100	-1	tier1	-	no_errors	ENST00000279791	ensembl	human	known	74_37	missense	18.18	35	8	SNP	0.000	C	C	56230100	T	C	56230100	3	2	64	1	0	0	0	0	1	0	0	0	11216	1559	54	4	156	4	OR5M9	11	56230100	Missense_Mutation	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09	7719175	56230100	78776416	53	17794											
ITPR2	3709	genome.wustl.edu	37	chr12	26551892	26551892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaagtatcgatgataacaCcaaaaatcaagttcagaaca	21	7	5	8	1	2	2	2	1	0	1	3	3	2	2	1	0	2	2	1	0	8	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr12:26551892C>T	ENST00000381340.3	-	54	8029	c.7613G>A	c.(7612-7614)gGt>gAt	p.G2538D	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2538					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.G2538V(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GATGATAACACCAAAAATCAA	0.333																																																	1	Substitution - Missense(1)	lung(1)											81	71	74					12																	26551892		1816	4076	5892	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7613G>A	12.37:g.26551892C>T	ENSP00000370744:p.Gly2538Asp		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.G2538D	ENST00000381340.3	37	c.7613	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954024	0.92660	.	.	ENSG00000123104	ENST00000381340	D	0.99060	-5.38	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98338	1.0537	10	0.87932	D	0	.	18.4021	0.90520	0.0:1.0:0.0:0.0	.	2538	Q14571	ITPR2_HUMAN	D	2538	ENSP00000370744:G2538D	ENSP00000370744:G2538D	G	-	2	0	ITPR2	26443159	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.549000	0.82163	2.567000	0.86603	0.603000	0.83216	GGT	ITPR2	-	pfam_Ion_trans_dom	ENSG00000123104		0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1		0	40	0	C	NM_002223		26551892	-1			no_errors	ENST00000381340	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	26551892	C	T	26551892	3	4	64	1	0	0	0	0	1	0	0	0	7948	507	18	3	508	3	ITPR2	12	26551892	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09		26551892	107300003	54	17795											
GLIPR1L2	144321	genome.wustl.edu	37	chr12	75804346	75804346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaaaatatgtgggtcGgccctgaaaatgaatttact	12	13	11	5	1	0	3	0	3	0	0	1	3	0	3	1	3	1	0	1	3	7	4	rs567529302		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr12:75804346G>T	ENST00000550916.1	+	2	414	c.367G>T	c.(367-369)Ggc>Tgc	p.G123C	GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.G58C|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.G123C|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.G123C|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.G16C|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.G123C	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	123	SCP.					integral component of membrane (GO:0016021)		p.G123S(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TATGTGGGTCGGCCCTGAAAA	0.353																																																	2	Substitution - Missense(2)	lung(2)											84	85	85					12																	75804346		2203	4299	6502	SO:0001583	missense	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.367G>T	12.37:g.75804346G>T	ENSP00000448248:p.Gly123Cys		Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.G123C	ENST00000550916.1	37	c.367	CCDS58258.1	12	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811558	0.70797	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378692;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08;3.08	4.91	4.91	0.64330	CAP domain (3);	0.132588	0.49305	D	0.000155	T	0.39091	0.1065	M	0.93150	3.385	0.36455	D	0.866352	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.59705	-0.7404	10	0.72032	D	0.01	.	15.1142	0.72388	0.0:0.0:1.0:0.0	.	123;123	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	C	123;123;16;123;123;58	ENSP00000448248:G123C;ENSP00000398328:G123C;ENSP00000367963:G16C;ENSP00000317385:G123C;ENSP00000447980:G123C;ENSP00000405273:G58C	ENSP00000317385:G123C	G	+	1	0	GLIPR1L2	74090613	0.994000	0.37717	0.998000	0.56505	0.955000	0.61496	4.395000	0.59678	2.538000	0.85594	0.484000	0.47621	GGC	GLIPR1L2	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000180481		0.353	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1L2	HGNC	protein_coding	OTTHUMT00000405718.1		0	37	0	G	NM_152436		75804346	1			no_errors	ENST00000550916	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.988	T	T	75804346	G	T	75804346	3	4	64	1	0	0	0	0	1	0	0	0	6469	1116	39	2	373	2	GLIPR1L2	12	75804346	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	49252454	75804346	58047549	55	17796											
ANKS1B	56899	genome.wustl.edu	37	chr12	100205934	100205934	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatttggcaagtgcaccTgttcattgaccctggaatgt	11	12	9	9	0	1	1	1	1	0	0	1	2	1	2	2	2	2	3	2	2	3	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr12:100205934T>C	ENST00000547776.2	-	3	370	c.371A>G	c.(370-372)cAg>cGg	p.Q124R	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Splice_Site_p.Q124R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	124						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAAGTGCACCTGTTCATTGAC	0.378																																																	0													99	98	98					12																	100205934		1881	4101	5982	SO:0001630	splice_region_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.372+1A>G	12.37:g.100205934T>C			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.Q124R	ENST00000547776.2	37	c.371	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	T	24.4	4.532632	0.85812	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.70749	0.71;0.71;-0.51	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.74650	0.3744	N	0.21373	0.66	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.85130	0.986;0.997	T	0.73839	-0.3856	9	.	.	.	-7.6547	15.94	0.79747	0.0:0.0:0.0:1.0	.	124;124	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	R	124	ENSP00000449629:Q124R;ENSP00000331381:Q124R;ENSP00000449894:Q124R	.	Q	-	2	0	ANKS1B	98730065	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.967000	0.70403	2.156000	0.67533	0.533000	0.62120	CAG	ANKS1B	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185046		0.378	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0	60	0	T	NM_020140	Missense_Mutation	100205934	-1	tier1	-	no_errors	ENST00000329257	ensembl	human	known	74_37	missense	6.67	70	5	SNP	1.000	C	C	100205934	T	C	100205934	5	2	64	1	0	0	0	0	0	0	1	0	689	1594	55	4	3759	4	ANKS1B	12	100205934	Splice_Site	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09	24401588	100205934	33645961	56	17797											
CCDC62	84660	genome.wustl.edu	37	chr12	123285733	123285733	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcgatattaagagggaaaAaaatcagaagtcactgttta	18	10	9	4	1	2	2	2	0	0	2	3	4	2	3	0	1	0	1	0	1	7	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr12:123285733A>C	ENST00000253079.6	+	9	1384	c.1040A>C	c.(1039-1041)aAa>aCa	p.K347T	CCDC62_ENST00000537566.1_Missense_Mutation_p.K108T|CCDC62_ENST00000392441.4_Missense_Mutation_p.K347T|CCDC62_ENST00000392440.2_Missense_Mutation_p.K108T	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	347					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAGAGGGAAAAAAATCAGAAG	0.368																																																	0													70	73	72					12																	123285733		2203	4300	6503	SO:0001583	missense	0				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"cancer/testis antigen 109"	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.1040A>C	12.37:g.123285733A>C	ENSP00000253079:p.Lys347Thr		A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.K347T	ENST00000253079.6	37	c.1040	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	A	15.93	2.978769	0.53720	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	T;T;T;T	0.51574	1.3;1.29;0.7;0.7	5.19	0.159	0.14968	.	0.680080	0.13579	N	0.377518	T	0.52693	0.1750	L	0.47716	1.5	0.24795	N	0.992732	P;D;B	0.76494	0.933;0.999;0.403	P;P;B	0.61658	0.544;0.892;0.221	T	0.42699	-0.9436	10	0.62326	D	0.03	-12.1433	7.5226	0.27637	0.4313:0.0:0.5687:0.0	.	347;108;347	Q6P9F0-2;Q6P9F0-3;Q6P9F0	.;.;CCD62_HUMAN	T	347;347;108;108	ENSP00000253079:K347T;ENSP00000376236:K347T;ENSP00000445045:K108T;ENSP00000376235:K108T	ENSP00000253079:K347T	K	+	2	0	CCDC62	121851686	1.000000	0.71417	0.991000	0.47740	0.438000	0.31896	0.670000	0.25157	0.043000	0.15746	-0.250000	0.11733	AAA	CCDC62	-	NULL	ENSG00000130783		0.368	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	HGNC	protein_coding	OTTHUMT00000400930.1	-	0	32	0	A	NM_032573		123285733	1	tier1	-	no_errors	ENST00000253079	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.994	C	C	123285733	A	C	123285733	3	2	64	1	0	0	0	0	1	0	0	0	2840	14	1	4	1074	4	CCDC62	12	123285733	Missense_Mutation	SNP	A	TCGA-L5-A4OQ-01A-11D-A27G-09	23079799	123285733	10566162	57	17798											
MIPEP	4285	genome.wustl.edu	37	chr13	24444223	24444223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagatgtaaagttacgacGaatgtgttctggtaagagat	14	11	12	4	2	1	2	0	0	1	2	1	5	1	2	0	1	2	5	0	1	5	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr13:24444223G>A	ENST00000382172.3	-	6	813	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	239					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAGTTACGACGAATGTGTTCT	0.378																																																	0													174	146	156					13																	24444223		2203	4300	6503	SO:0001583	missense	0				CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.715C>T	13.37:g.24444223G>A	ENSP00000371607:p.Arg239Cys		Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.R239C	ENST00000382172.3	37	c.715	CCDS9303.1	13	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479044	0.84747	.	.	ENSG00000027001	ENST00000382172	T	0.08458	3.09	5.92	4.2	0.49525	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.431594	0.28815	N	0.014057	T	0.15262	0.0368	M	0.62723	1.935	0.37051	D	0.897583	D	0.61697	0.99	P	0.48571	0.582	T	0.05767	-1.0865	10	0.72032	D	0.01	.	12.6171	0.56584	0.1338:0.0:0.8662:0.0	.	239	Q99797	MIPEP_HUMAN	C	239	ENSP00000371607:R239C	ENSP00000371607:R239C	R	-	1	0	MIPEP	23342223	0.642000	0.27260	0.077000	0.20336	0.419000	0.31324	3.054000	0.49908	0.837000	0.34925	0.650000	0.86243	CGT	MIPEP	-	NULL	ENSG00000027001		0.378	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIPEP	HGNC	protein_coding	OTTHUMT00000044169.1	-	0	57	0	G			24444223	-1	tier1	-	no_errors	ENST00000382172	ensembl	human	known	74_37	missense	16.07	47	9	SNP	0.687	A	A	24444223	G	A	24444223	3	1	64	1	0	0	0	0	1	0	0	0	9630	1058	37	1	1482	1	MIPEP	13	24444223	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		24444223	90725655	58	17799											
KDELC1	79070	genome.wustl.edu	37	chr13	103443257	103443257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattaagtcataccttgaaGaaatcaaaaaatgaaatatg	20	11	6	4	0	2	4	2	3	0	1	2	4	2	4	1	0	1	0	1	0	9	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr13:103443257G>T	ENST00000376004.4	-	6	1413	c.1077C>A	c.(1075-1077)ttC>ttA	p.F359L	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	359						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATACCTTGAAGAAATCAAAAA	0.338																																																	0													41	44	43					13																	103443257		2203	4300	6503	SO:0001583	missense	0			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.1077C>A	13.37:g.103443257G>T	ENSP00000365172:p.Phe359Leu		Q53HL3|Q9BVD2	Missense_Mutation	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.F359L	ENST00000376004.4	37	c.1077	CCDS9504.1	13	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337341	0.81911	.	.	ENSG00000134901	ENST00000376004	T	0.21191	2.02	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.41971	0.1182	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07158	-1.0787	10	0.37606	T	0.19	.	13.0923	0.59172	0.0836:0.0:0.9163:0.0	.	359	Q6UW63	KDEL1_HUMAN	L	359	ENSP00000365172:F359L	ENSP00000365172:F359L	F	-	3	2	KDELC1	102241258	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.219000	0.51200	2.622000	0.88805	0.561000	0.74099	TTC	KDELC1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000134901		0.338	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1	-	0	24	0	G			103443257	-1	tier1	-	no_errors	ENST00000376004	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	103443257	G	T	103443257	3	4	64	1	0	0	0	0	1	0	0	0	8144	933	33	3	451	3	KDELC1	13	103443257	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	78999034	103443257	11726621	59	17800											
MYH7	4625	genome.wustl.edu	37	chr14	23891482	23891482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccctccagcttccgcttcGctcgctccaggtccatgcgc	3	9	9	20	5	0	0	0	0	0	0	6	0	4	0	5	1	2	4	5	1	0	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr14:23891482G>A	ENST00000355349.3	-	25	3314	c.3152C>T	c.(3151-3153)gCg>gTg	p.A1051V		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1051					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCCGCTTCGCTCGCTCCAG	0.572																																																	0													133	106	115					14																	23891482		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3152C>T	14.37:g.23891482G>A	ENSP00000347507:p.Ala1051Val		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1051V	ENST00000355349.3	37	c.3152	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020600	0.54576	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.91011	-2.77	4.64	4.64	0.57946	.	.	.	.	.	D	0.85362	0.5679	L	0.38175	1.15	0.47214	D	0.999357	B	0.10296	0.003	B	0.12156	0.007	T	0.81123	-0.1076	9	0.44086	T	0.13	.	11.5294	0.50599	0.0824:0.0:0.9176:0.0	.	1051	P12883	MYH7_HUMAN	V	1051	ENSP00000347507:A1051V	ENSP00000347507:A1051V	A	-	2	0	MYH7	22961322	1.000000	0.71417	0.956000	0.39512	0.920000	0.55202	4.331000	0.59273	2.585000	0.87301	0.655000	0.94253	GCG	MYH7	-	superfamily_Prefoldin	ENSG00000092054		0.572	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3		0	79	0	G	NM_000257		23891482	-1			no_errors	ENST00000355349	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.995	A	A	23891482	G	A	23891482	3	1	64	1	0	0	0	0	1	0	0	0	10077	1087	38	1	2719	1	MYH7	14	23891482	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		23891482	83458058	60	17801											
SCFD1	23256	genome.wustl.edu	37	chr14	31107338	31107338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtattgataggatcttcGaaatcaactatatgaatcat	15	15	6	5	1	3	2	2	2	1	0	4	4	3	3	0	1	1	1	0	1	7	7	rs561696273		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr14:31107338G>T	ENST00000458591.2	+	5	547	c.320G>T	c.(319-321)cGa>cTa	p.R107L	SCFD1_ENST00000421551.3_Missense_Mutation_p.R48L|SCFD1_ENST00000396629.2_Missense_Mutation_p.R15L|SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_Missense_Mutation_p.R40L	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	107					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TAGGATCTTCGAAATCAACTA	0.279																																																	0													26	28	27					14																	31107338		2201	4298	6499	SO:0001583	missense	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.320G>T	14.37:g.31107338G>T	ENSP00000390783:p.Arg107Leu		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.R107L	ENST00000458591.2	37	c.320	CCDS9639.1	14	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943076	0.73672	.	.	ENSG00000092108	ENST00000458591;ENST00000544052;ENST00000421551;ENST00000557076;ENST00000396629	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	L	0.41236	1.265	0.80722	D	1	B;P;B	0.39131	0.096;0.661;0.262	B;B;B	0.42386	0.18;0.386;0.248	T	0.07693	-1.0759	10	0.41790	T	0.15	-16.5801	18.9372	0.92590	0.0:0.0:1.0:0.0	.	48;40;107	B7Z738;B7Z4U7;Q8WVM8	.;.;SCFD1_HUMAN	L	107;40;48;82;15	ENSP00000390783:R107L;ENSP00000443010:R40L;ENSP00000388078:R48L;ENSP00000450755:R82L;ENSP00000379870:R15L	ENSP00000309417:R115L	R	+	2	0	SCFD1	30177089	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.325000	0.96381	2.706000	0.92434	0.655000	0.94253	CGA	SCFD1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000092108		0.279	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3		0	65	0	G	NM_182835		31107338	1			no_errors	ENST00000458591	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	31107338	G	T	31107338	3	4	64	1	0	0	0	0	1	0	0	0	13934	1058	37	2	338	2	SCFD1	14	31107338	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	7215856	31107338	76242202	61	17802											
FANCM	57697	genome.wustl.edu	37	chr14	45623962	45623962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgaaactctataatcatCtagagtgtatgtttgcacgt	12	15	7	7	1	4	2	2	1	2	1	4	2	4	2	0	0	2	3	0	0	5	5			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr14:45623962C>T	ENST00000267430.5	+	7	1331	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	FANCM_ENST00000542564.2_Silent_p.L390L|FANCM_ENST00000556036.1_Silent_p.L416L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	416					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTATAATCATCTAGAGTGTAT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													75	77	76					14																	45623962		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1246C>T	14.37:g.45623962C>T			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L416	ENST00000267430.5	37	c.1246	CCDS32070.1	14																																																																																			FANCM	-	superfamily_P-loop_NTPase	ENSG00000187790		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	38	0	C	XM_048128		45623962	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	silent	28.95	27	11	SNP	1.000	T	T	45623962	C	T	45623962	2	4	64	1	0	0	0	0	0	0	0	1	5693	912	32	3		3	FANCM	14	45623962	Silent	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	14516624	45623962	61725578	62	17803											
MTMR10	54893	genome.wustl.edu	37	chr15	31253135	31253135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaaactctccacccggaaGcacctgtcctcttgatttct	10	11	5	15	1	3	1	0	1	3	0	5	2	4	2	4	1	3	1	4	1	3	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr15:31253135G>T	ENST00000435680.1	-	7	804	c.707C>A	c.(706-708)gCt>gAt	p.A236D	MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000425768.1_Missense_Mutation_p.L206I|MTMR10_ENST00000563714.1_Missense_Mutation_p.A154D	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	236	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CCACCCGGAAGCACCTGTCCT	0.458																																																	0													100	96	98					15																	31253135		1915	4133	6048	SO:0001583	missense	0			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.707C>A	15.37:g.31253135G>T	ENSP00000402537:p.Ala236Asp		Q6P4Q6	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.A236D	ENST00000435680.1	37	c.707	CCDS45204.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.420765|4.420765	0.83559|0.83559	.|.	.|.	ENSG00000166912|ENSG00000166912	ENST00000435680;ENST00000340566|ENST00000425768	D|T	0.93133|0.54479	-3.17|0.57	5.15|5.15	4.23|4.23	0.50019|0.50019	Myotubularin phosphatase domain (1);|.	0.052659|.	0.85682|.	D|.	0.000000|.	T|T	0.52224|0.52224	0.1721|0.1721	L|L	0.41492|0.41492	1.28|1.28	0.23720|0.23720	N|N	0.997027|0.997027	P;D|.	0.89917|.	0.51;1.0|.	B;D|.	0.76575|.	0.241;0.988|.	T|T	0.43376|0.43376	-0.9395|-0.9395	10|7	0.48119|0.31617	T|T	0.1|0.26	.|.	15.0864|15.0864	0.72158|0.72158	0.0:0.0:0.8572:0.1428|0.0:0.0:0.8572:0.1428	.|.	154;236|.	Q9NXD2-2;Q9NXD2|.	.;MTMRA_HUMAN|.	D|I	236;154|206	ENSP00000402537:A236D|ENSP00000412314:L206I	ENSP00000340637:A154D|ENSP00000412314:L206I	A|L	-|-	2|1	0|0	MTMR10|MTMR10	29040427|29040427	1.000000|1.000000	0.71417|0.71417	0.553000|0.553000	0.28255|0.28255	0.980000|0.980000	0.70556|0.70556	8.829000|8.829000	0.92055|0.92055	1.149000|1.149000	0.42402|0.42402	0.563000|0.563000	0.77884|0.77884	GCT|CTT	MTMR10	-	NULL	ENSG00000166912		0.458	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	HGNC	protein_coding	OTTHUMT00000430747.1	-	0	77	0	G	NM_017762		31253135	-1	tier1	-	no_errors	ENST00000435680	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	31253135	G	T	31253135	3	4	64	1	0	0	0	0	1	0	0	0	9977	971	34	3	1666	3	MTMR10	15	31253135	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		31253135	71278257	63	17804											
RPUSD2	27079	genome.wustl.edu	37	chr15	40861777	40861777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctggccgggaagtggagCcggccccagtaggcggggag	6	3	21	11	4	0	0	0	0	0	0	0	3	0	3	4	8	1	2	4	8	2	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr15:40861777C>G	ENST00000315616.7	+	1	279	c.241C>G	c.(241-243)Ccg>Gcg	p.P81A	RPUSD2_ENST00000559271.1_Missense_Mutation_p.P81A	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	81					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		GGAAGTGGAGCCGGCCCCAGT	0.726																																																	0													8	9	9					15																	40861777		2168	4256	6424	SO:0001583	missense	0			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"RNA pseudouridylate synthase domain containing"	24180	protein-coding gene	gene with protein product			"chromosome 15 open reading frame 19"	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.241C>G	15.37:g.40861777C>G	ENSP00000323288:p.Pro81Ala		B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.P81A	ENST00000315616.7	37	c.241	CCDS10061.1	15	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254774	0.39896	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.28454	1.61	5.17	1.17	0.20885	.	1.322360	0.04874	N	0.446477	T	0.23014	0.0556	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.22941	-1.0202	10	0.12103	T	0.63	0.0404	5.4946	0.16795	0.0:0.6239:0.1441:0.232	.	81	Q8IZ73	RUSD2_HUMAN	A	81	ENSP00000323288:P81A	ENSP00000323288:P81A	P	+	1	0	RPUSD2	38649069	0.000000	0.05858	0.002000	0.10522	0.102000	0.19082	0.483000	0.22292	0.067000	0.16545	0.650000	0.86243	CCG	RPUSD2	-	NULL	ENSG00000166133		0.726	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	-	0	25	0	C	NM_152260		40861777	1	tier1	-	no_errors	ENST00000315616	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.003	G	G	40861777	C	G	40861777	3	3	64	1	0	0	0	0	1	0	0	0	13712	739	26	5	243	5	RPUSD2	15	40861777	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	9608642	40861777	61669615	64	17805											
PIGQ	9091	genome.wustl.edu	37	chr16	630954	630954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggtcttcggctctgcCggccctacaggctggcgggt	3	9	15	14	3	2	0	0	0	2	0	3	0	2	0	2	6	2	2	2	6	1	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr16:630954C>T	ENST00000026218.5	+	9	1601	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	PIGQ_ENST00000409527.2_Missense_Mutation_p.R505W|PIGQ_ENST00000321878.5_Missense_Mutation_p.R505W	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	505	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TCGGCTCTGCCGGCCCTACAG	0.647																																																	0													101	96	97					16																	630954		2201	4300	6501	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1513C>T	16.37:g.630954C>T	ENSP00000026218:p.Arg505Trp		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.R505W	ENST00000026218.5	37	c.1513	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659805	0.67586	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	T;T;T	0.49139	0.79;0.79;2.07	5.22	4.18	0.49190	.	0.109609	0.56097	D	0.000021	T	0.55273	0.1910	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.974;0.974;0.981	T	0.58306	-0.7659	10	0.87932	D	0	-54.425	12.0576	0.53544	0.2231:0.7769:0.0:0.0	.	519;505;505	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	W	505;505;505;63	ENSP00000386760:R505W;ENSP00000326674:R505W;ENSP00000026218:R505W	ENSP00000026218:R505W	R	+	1	2	PIGQ	570955	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.885000	0.28227	2.443000	0.82685	0.511000	0.50034	CGG	PIGQ	-	NULL	ENSG00000007541		0.647	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2		0	69	0	C	NM_004204		630954	1			no_errors	ENST00000026218	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	630954	C	T	630954	3	4	64	1	0	0	0	0	1	0	0	0	11935	643	23	1	1543	1	PIGQ	16	630954	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09		630954	89723799	65	17806											
GRIN2A	2903	genome.wustl.edu	37	chr16	9943750	9943750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatccggctcacagtcGgagaaggacttgtacctggg	8	10	13	10	2	2	1	2	0	0	1	4	3	3	2	2	4	1	2	2	4	2	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr16:9943750G>A	ENST00000396573.2	-	6	1500	c.1191C>T	c.(1189-1191)tcC>tcT	p.S397S	GRIN2A_ENST00000396575.2_Silent_p.S397S|GRIN2A_ENST00000535259.1_Silent_p.S240S|GRIN2A_ENST00000562109.1_Silent_p.S397S|GRIN2A_ENST00000330684.3_Silent_p.S397S|GRIN2A_ENST00000404927.2_Silent_p.S397S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	397					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTCACAGTCGGAGAAGGACT	0.582																																																	0													135	111	119					16																	9943750		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1191C>T	16.37:g.9943750G>A			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S397	ENST00000396573.2	37	c.1191	CCDS10539.1	16																																																																																			GRIN2A	-	NULL	ENSG00000183454		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3		0	43	0	G			9943750	-1			no_errors	ENST00000330684	ensembl	human	known	74_37	silent	8.33	33	3	SNP	0.001	A	A	9943750	G	A	9943750	2	1	64	1	0	0	0	0	0	0	0	1	6806	1103	39	1		1	GRIN2A	16	9943750	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	9312796	9943750	80411003	66	17807											
IRX5	10265	genome.wustl.edu	37	chr16	54966722	54966722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcggaaccgcagcgaggacGaggaagaggaggagaacatt	14	2	17	8	5	0	2	0	0	0	2	0	9	0	6	1	5	3	1	1	5	3	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr16:54966722G>A	ENST00000394636.4	+	2	899	c.562G>A	c.(562-564)Gag>Aag	p.E188K	IRX5_ENST00000320990.5_Missense_Mutation_p.E188K|IRX5_ENST00000558597.1_Missense_Mutation_p.E122K|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	188	Poly-Glu.				embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CAGCGAGGACGAGGAAGAGGA	0.632																																																	0													79	89	85					16																	54966722		2197	4300	6497	SO:0001583	missense	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.562G>A	16.37:g.54966722G>A	ENSP00000378132:p.Glu188Lys		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.E188K	ENST00000394636.4	37	c.562	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874593	0.91664	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.62105	0.09;0.05	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	L	0.52905	1.665	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.72527	-0.4266	10	0.36615	T	0.2	-17.0921	15.3232	0.74139	0.0:0.0:1.0:0.0	.	188	P78411	IRX5_HUMAN	K	188	ENSP00000378132:E188K;ENSP00000316250:E188K	ENSP00000316250:E188K	E	+	1	0	IRX5	53524223	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.479000	0.97929	2.123000	0.65237	0.655000	0.94253	GAG	IRX5	-	NULL	ENSG00000176842		0.632	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	-	0	71	0	G			54966722	1	tier1	-	no_errors	ENST00000394636	ensembl	human	known	74_37	missense	26.92	38	14	SNP	1.000	A	A	54966722	G	A	54966722	3	1	64	1	0	0	0	0	1	0	0	0	7874	1059	37	1	568	1	IRX5	16	54966722	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	45022972	54966722	35388031	67	17808											
SGSM2	9905	genome.wustl.edu	37	chr17	2266394	2266394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggggtccacctactcGccaggactcccctgcaaagc	8	6	9	18	2	0	0	0	0	0	0	4	1	3	1	6	3	3	1	6	3	2	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr17:2266394G>A	ENST00000426855.2	+	6	813	c.638G>A	c.(637-639)cGc>cAc	p.R213H	SGSM2_ENST00000268989.3_Missense_Mutation_p.R213H|SGSM2_ENST00000574563.1_Missense_Mutation_p.R213H	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	213					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCACCTACTCGCCAGGACTCC	0.637																																																	0													31	30	30					17																	2266394		2203	4300	6503	SO:0001583	missense	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.638G>A	17.37:g.2266394G>A	ENSP00000415107:p.Arg213His		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R213H	ENST00000426855.2	37	c.638	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325876	0.60743	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.13089	2.62;2.62	5.97	4.98	0.66077	.	0.232047	0.52532	D	0.000067	T	0.35885	0.0947	M	0.62723	1.935	0.43000	D	0.99451	B;D;D	0.89917	0.242;1.0;1.0	B;D;D	0.87578	0.038;0.998;0.998	T	0.14364	-1.0475	10	0.62326	D	0.03	-16.3905	16.0904	0.81088	0.0:0.134:0.866:0.0	.	213;213;213	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	H	213	ENSP00000268989:R213H;ENSP00000415107:R213H	ENSP00000268989:R213H	R	+	2	0	SGSM2	2213144	1.000000	0.71417	0.612000	0.29024	0.014000	0.08584	7.935000	0.87658	1.476000	0.48215	0.655000	0.94253	CGC	SGSM2	-	NULL	ENSG00000141258		0.637	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0	55	0	G	NM_014853		2266394	1	tier1	-	no_errors	ENST00000268989	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.988	A	A	2266394	G	A	2266394	3	1	64	1	0	0	0	0	1	0	0	0	14268	1087	38	1	660	1	SGSM2	17	2266394	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		2266394	78928816	68	17809											
TP53	7157	genome.wustl.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	7	8	14	12	2	1	0	1	0	0	0	2	3	2	2	4	4	3	2	4	4	1	1	rs483352695|rs397516437		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr17:7577545T>C	ENST00000269305.4	-	7	925	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000420246.2_Missense_Mutation_p.M246V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCCGGTTCATGCCGCCCATG	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	67	Substitution - Missense(39)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	liver(8)|haematopoietic_and_lymphoid_tissue(7)|large_intestine(6)|biliary_tract(6)|lung(6)|ovary(6)|breast(5)|stomach(4)|bone(4)|upper_aerodigestive_tract(3)|urinary_tract(3)|oesophagus(3)|soft_tissue(2)|central_nervous_system(2)|pancreas(2)	GRCh37	CM942294	TP53	M							152	113	126					17																	7577545		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.736A>G	17.37:g.7577545T>C	ENSP00000269305:p.Met246Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.M246V	ENST00000269305.4	37	c.736	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	20.2	3.945888	0.73672	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	4.62	3.54	0.40534	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.87971	2.92	0.53005	D	0.999962	D;P;P;D;P;D	0.76494	0.993;0.889;0.832;0.994;0.931;0.999	D;P;B;D;D;D	0.80764	0.972;0.545;0.403;0.984;0.947;0.994	D	0.98572	1.0646	10	0.87932	D	0	-28.5667	8.419	0.32690	0.0:0.0941:0.0:0.9059	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246V;ENSP00000352610:M246V;ENSP00000269305:M246V;ENSP00000398846:M246V;ENSP00000391127:M246V;ENSP00000391478:M246V;ENSP00000425104:M114V;ENSP00000423862:M153V	ENSP00000269305:M246V	M	-	1	0	TP53	7518270	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.824000	0.86668	0.914000	0.36822	0.379000	0.24179	ATG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	271	0	T	NM_000546		7577545	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	48.56	107	101	SNP	1.000	C	C	7577545	T	C	7577545	3	2	64	1	0	0	0	0	1	0	0	0	16429	1464	51	4	554	4	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09	5311151	7577545	73617665	69	17810											
DNAH9	1770	genome.wustl.edu	37	chr17	11757419	11757419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctcccaggggtagggtgCccaaggaccggagctggaag	8	5	18	10	1	0	0	0	0	0	0	1	3	1	3	3	7	2	3	3	7	3	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr17:11757419C>T	ENST00000262442.4	+	50	9675	c.9607C>T	c.(9607-9609)Ccc>Tcc	p.P3203S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3203S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3203	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGTAGGGTGCCCAAGGACCG	0.552																																																	0													81	77	78					17																	11757419		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9607C>T	17.37:g.11757419C>T	ENSP00000262442:p.Pro3203Ser		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P3203S	ENST00000262442.4	37	c.9607	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201762	0.79015	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.81739	-1.53;-1.53	5.49	5.49	0.81192	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	M	0.89785	3.06	0.80722	D	1	D	0.67145	0.996	D	0.75020	0.985	D	0.92390	0.5920	10	0.62326	D	0.03	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	3203	Q9NYC9	DYH9_HUMAN	S	3203;3203;1785	ENSP00000262442:P3203S;ENSP00000414874:P3203S	ENSP00000262442:P3203S	P	+	1	0	DNAH9	11698144	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	7.278000	0.78587	2.857000	0.98124	0.650000	0.86243	CCC	DNAH9	-	superfamily_P-loop_NTPase	ENSG00000007174		0.552	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	44	0	C	NM_001372		11757419	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	T	T	11757419	C	T	11757419	3	4	64	1	0	0	0	0	1	0	0	0	4622	739	26	3	9805	3	DNAH9	17	11757419	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09	4179874	11757419	69437791	70	17811											
PHF12	57649	genome.wustl.edu	37	chr17	27233372	27233372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttgatgtagctgccatgGtgcagtaaggctgtgccctc	7	11	13	10	0	0	1	0	1	0	0	1	1	0	1	2	2	5	6	2	2	2	3	rs372498852		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr17:27233372G>T	ENST00000332830.4	-	15	3654	c.2844C>A	c.(2842-2844)caC>caA	p.H948Q	PHF12_ENST00000577226.1_3'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGCTGCCATGGTGCAGTAAGG	0.617																																																	0													53	55	54					17																	27233372		2203	4300	6503	SO:0001583	missense	0			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"Zinc fingers, PHD-type"	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.2844C>A	17.37:g.27233372G>T	ENSP00000329933:p.His948Gln			Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.H948Q	ENST00000332830.4	37	c.2844	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	g	15.41	2.826444	0.50739	.	.	ENSG00000109118	ENST00000332830	D	0.94793	-3.52	4.64	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	L	0.59436	1.845	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	D	0.95826	0.8854	10	0.87932	D	0	-12.1602	11.8103	0.52179	0.0864:0.0:0.9136:0.0	.	930;948	B4DFE2;Q96QT6	.;PHF12_HUMAN	Q	948	ENSP00000329933:H948Q	ENSP00000329933:H948Q	H	-	3	2	PHF12	24257498	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.763000	0.62257	1.330000	0.45394	0.651000	0.88453	CAC	PHF12	-	NULL	ENSG00000109118		0.617	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	-	0	26	0	G	NM_020889		27233372	-1	tier1	-	no_errors	ENST00000332830	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	T	T	27233372	G	T	27233372	3	4	64	1	0	0	0	0	1	0	0	0	11862	1252	44	3	174	3	PHF12	17	27233372	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	15475953	27233372	53961838	71	17812											
OR4D2	124538	genome.wustl.edu	37	chr17	56247408	56247408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatctcccggcccctccGctatgtcaccgtcatgaaca	7	9	7	18	3	3	1	2	1	1	0	5	1	4	1	6	1	2	1	6	1	2	1	rs147819968		TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr17:56247408G>A	ENST00000545221.1	+	1	392	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CGGCCCCTCCGCTATGTCACC	0.567													G|||	1	0.000199681	0	0	5008	,	,		18447	0		0.001	False		,,,				2504	0																0								G	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	84	85	85		392	4.6	1	17	dbSNP_134	85	0,8600		0,0,4300	no	missense	OR4D2	NM_001004707.3	29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign	131/308	56247408	8,12998	2203	4300	6503	SO:0001583	missense	0				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"GPCR / Class A : Olfactory receptors"	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.392G>A	17.37:g.56247408G>A	ENSP00000441354:p.Arg131His		Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R131H	ENST00000545221.1	37	c.392	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	G	2.670	-0.277682	0.05679	0.001816	0.0	ENSG00000255713	ENST00000545221	T	0.00669	5.9	5.71	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	N	0.000021	T	0.00384	0.0012	N	0.02158	-0.66	0.25960	N	0.982639	B	0.06786	0.001	B	0.04013	0.001	T	0.43376	-0.9395	10	0.02654	T	1	-22.3682	10.0727	0.42343	0.92:0.0:0.08:0.0	.	131	P58180	OR4D2_HUMAN	H	131	ENSP00000441354:R131H	ENSP00000441354:R131H	R	+	2	0	OR4D2	53602407	0.042000	0.20092	1.000000	0.80357	0.947000	0.59692	0.961000	0.29267	1.109000	0.41680	-0.290000	0.09829	CGC	OR4D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000255713		0.567	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	HGNC	protein_coding	OTTHUMT00000443366.1	-	0	46	0	G			56247408	1	tier1	rs147819968	no_errors	ENST00000545221	ensembl	human	known	74_37	missense	50.00	21	21	SNP	1.000	A	A	56247408	G	A	56247408	3	1	64	1	0	0	0	0	1	0	0	0	11095	1087	38	1	394	1	OR4D2	17	56247408	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	29014036	56247408	24947802	72	17813											
TAF4B	6875	genome.wustl.edu	37	chr18	23915142	23915142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcctttgatagagtCgttctaataaagaagatcca	12	16	6	7	1	2	4	0	1	2	3	5	4	4	4	2	0	0	1	2	0	5	8			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr18:23915142C>A	ENST00000269142.5	+	13	3261	c.2263C>A	c.(2263-2265)Cgt>Agt	p.R755S	TAF4B_ENST00000578121.1_Missense_Mutation_p.R760S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	755					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TTGATAGAGTCGTTCTAATAA	0.328																																																	0													77	72	73					18																	23915142		1816	4081	5897	SO:0001583	missense	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2263C>A	18.37:g.23915142C>A	ENSP00000269142:p.Arg755Ser		Q29YA4|Q29YA5	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.R755S	ENST00000269142.5	37	c.2263	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	C	9.053	0.992558	0.18966	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.38722	1.12	5.64	5.64	0.86602	Transcription initiation factor TFIID component TAF4 (1);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.72984	-0.4125	10	0.46703	T	0.11	-5.9134	19.7012	0.96054	0.0:1.0:0.0:0.0	.	755;760	Q92750;A4PBF7	TAF4B_HUMAN;.	S	758;755	ENSP00000269142:R755S	ENSP00000269142:R755S	R	+	1	0	TAF4B	22169140	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.796000	0.62496	2.637000	0.89404	0.563000	0.77884	CGT	TAF4B	-	pfam_TAF4	ENSG00000141384		0.328	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3		0	51	0	C	NM_005640		23915142	1			no_errors	ENST00000269142	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	23915142	C	A	23915142	3	1	64	1	0	0	0	0	1	0	0	0	15574	884	31	2	2313	2	TAF4B	18	23915142	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09		23915142	54162106	73	17814											
DCC	1630	genome.wustl.edu	37	chr18	50961530	50961530	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcgtcatggagatggAggttattggccagttgatac	10	11	14	6	1	1	2	1	1	0	1	2	4	1	3	1	5	1	2	1	5	2	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr18:50961530A>C	ENST00000442544.2	+	22	3796	c.3180A>C	c.(3178-3180)ggA>ggC	p.G1060G	DCC_ENST00000581580.1_Silent_p.G695G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1060					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGGAGATGGAGGTTATTGGC	0.303																																																	0													213	216	215					18																	50961530		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3180A>C	18.37:g.50961530A>C				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1060	ENST00000442544.2	37	c.3180	CCDS11952.1	18																																																																																			DCC	-	NULL	ENSG00000187323		0.303	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	35	0	A	NM_005215		50961530	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	57.58	14	19	SNP	0.997	C	C	50961530	A	C	50961530	2	2	64	1	0	0	0	0	0	0	0	1	4291	291	11	4		4	DCC	18	50961530	Silent	SNP	A	TCGA-L5-A4OQ-01A-11D-A27G-09	27046388	50961530	27115718	74	17815											
NEDD4L	23327	genome.wustl.edu	37	chr18	56002725	56002725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcccagtgccccagctGggagagcgcgttcatcaact	9	6	11	15	2	2	1	2	0	0	1	2	2	2	1	3	1	5	2	3	1	1	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr18:56002725G>T	ENST00000400345.3	+	13	1364	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	NEDD4L_ENST00000256832.7_Intron|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G240W|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000382850.4_Intron|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G353W|NEDD4L_ENST00000456986.1_Missense_Mutation_p.G240W|NEDD4L_ENST00000435432.2_Intron|NEDD4L_ENST00000586263.1_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000456173.2_Intron|NEDD4L_ENST00000589054.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	361					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TGCCCCAGCTGGGAGAGCGCG	0.517																																																	0													112	103	106					18																	56002725		1568	3582	5150	SO:0001583	missense	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"neural precursor cell expressed, developmentally down-regulated 4-like"			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1081G>T	18.37:g.56002725G>T	ENSP00000383199:p.Gly361Trp		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.G361W	ENST00000400345.3	37	c.1081	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337390	0.60963	.	.	ENSG00000049759	ENST00000400345;ENST00000456986;ENST00000357895;ENST00000431212	T;T;T;T	0.34859	1.34;1.86;1.75;1.86	5.87	3.38	0.38709	.	.	.	.	.	T	0.32793	0.0841	N	0.22421	0.69	0.29947	N	0.820573	B;B	0.32604	0.377;0.26	B;B	0.43701	0.428;0.246	T	0.38520	-0.9657	9	0.66056	D	0.02	.	8.671	0.34149	0.7821:0.0:0.2179:0.0	.	353;361	Q96PU5-7;Q96PU5	.;NED4L_HUMAN	W	361;240;353;240	ENSP00000383199:G361W;ENSP00000411947:G240W;ENSP00000350569:G353W;ENSP00000389406:G240W	ENSP00000350569:G353W	G	+	1	0	NEDD4L	54153705	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.092000	0.50207	0.515000	0.28320	-0.238000	0.12139	GGG	NEDD4L	-	NULL	ENSG00000049759		0.517	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1		0	39	0	G			56002725	1			no_errors	ENST00000400345	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	56002725	G	T	56002725	3	4	64	1	0	0	0	0	1	0	0	0	10350	1348	47	3	1159	3	NEDD4L	18	56002725	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	5041195	56002725	22074523	75	17816											
MIDN	90007	genome.wustl.edu	37	chr19	1255011	1255011	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaacccggcgccgtcatCgagagctttgtgaatcacgc	10	7	11	13	6	2	2	2	1	0	1	3	4	2	2	2	1	2	1	2	1	3	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:1255011C>A	ENST00000591446.2	+	5	1216	c.807C>A	c.(805-807)atC>atA	p.I269I	MIDN_ENST00000300952.2_Silent_p.I269I			Q504T8	MIDN_HUMAN	midnolin	269						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCGTCATCGAGAGCTTTG	0.662																																																	0													63	68	66					19																	1255011		2203	4300	6503	SO:0001819	synonymous_variant	0			AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.807C>A	19.37:g.1255011C>A			Q96BW8	Silent	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.I269	ENST00000591446.2	37	c.807	CCDS32864.1	19																																																																																			MIDN	-	NULL	ENSG00000167470		0.662	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIDN	HGNC	protein_coding	OTTHUMT00000449965.2	-	0	47	0	C			1255011	1	tier1	-	no_errors	ENST00000300952	ensembl	human	known	74_37	silent	53.85	6	7	SNP	0.994	A	A	1255011	C	A	1255011	2	1	64	1	0	0	0	0	0	0	0	1	9617	874	31	2		2	MIDN	19	1255011	Silent	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09		1255011	57873972	76	17817											
MYO1F	4542	genome.wustl.edu	37	chr19	8592306	8592306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcaggtcccttcttcActttctctcgcccaatcaca	6	14	3	18	1	5	0	3	0	3	0	9	0	6	0	3	1	0	0	3	1	1	4			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:8592306A>G	ENST00000338257.8	-	22	2657	c.2390T>C	c.(2389-2391)gTg>gCg	p.V797A		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	797	Myosin tail. {ECO:0000255}.			V -> M (in Ref. 1; CAC83948 and 5; CAA67058). {ECO:0000305}.	defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCCCTTCTTCACTTTCTCTCG	0.552																																																	0													80	82	82					19																	8592306		2020	4188	6208	SO:0001583	missense	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2390T>C	19.37:g.8592306A>G	ENSP00000344871:p.Val797Ala		Q8WWN7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.V797A	ENST00000338257.8	37	c.2390	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719413	0.89205	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	T	0.37235	1.21	5.16	5.16	0.70880	Myosin tail 2 (1);	0.000000	0.64402	D	0.000001	T	0.59514	0.2199	M	0.89353	3.025	0.58432	D	0.999999	P	0.50156	0.932	P	0.54544	0.755	T	0.67662	-0.5613	10	0.56958	D	0.05	.	14.2338	0.65911	1.0:0.0:0.0:0.0	.	797	O00160	MYO1F_HUMAN	A	842;797	ENSP00000344871:V797A	ENSP00000304899:V842A	V	-	2	0	MYO1F	8498306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.368000	0.79567	1.968000	0.57251	0.374000	0.22700	GTG	MYO1F	-	pfam_Myosin_tail_2	ENSG00000142347		0.552	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	HGNC	protein_coding	OTTHUMT00000342716.2	-	0	63	0	A			8592306	-1	tier1	-	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	30.23	30	13	SNP	1.000	G	G	8592306	A	G	8592306	3	3	64	1	0	0	0	0	1	0	0	0	10111	159	6	4	934	4	MYO1F	19	8592306	Missense_Mutation	SNP	A	TCGA-L5-A4OQ-01A-11D-A27G-09	7337295	8592306	50536677	77	17818											
MUC16	94025	genome.wustl.edu	37	chr19	9069914	9069914	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagtggagagcctggtGatggtttctgtggagatgta	10	11	17	3	0	1	3	0	1	1	2	1	6	1	4	1	5	1	2	1	5	3	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:9069914G>T	ENST00000397910.4	-	3	17735	c.17532C>A	c.(17530-17532)atC>atA	p.I5844I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5846	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGCCTGGTGATGGTTTCTG	0.483																																																	0													210	198	202					19																	9069914		1947	4131	6078	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17532C>A	19.37:g.9069914G>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.I5844	ENST00000397910.4	37	c.17532	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	106	0	G	NM_024690		9069914	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	20.73	65	17	SNP	0.000	T	T	9069914	G	T	9069914	2	4	64	1	0	0	0	0	0	0	0	1	10011	1280	45	3		3	MUC16	19	9069914	Silent	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	477608	9069914	50059069	78	17819											
PODNL1	79883	genome.wustl.edu	37	chr19	14044768	14044768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacggagttgagtctggcgGctcagggctcctcggggcac	5	8	16	12	3	3	1	2	1	1	0	5	2	4	2	1	6	0	4	1	6	0	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:14044768G>T	ENST00000339560.5	-	7	984	c.711C>A	c.(709-711)agC>agA	p.S237R	PODNL1_ENST00000254320.3_Missense_Mutation_p.S155R|PODNL1_ENST00000538371.2_Missense_Mutation_p.S235R|PODNL1_ENST00000538517.2_Missense_Mutation_p.S146R	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	237	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GAGTCTGGCGGCTCAGGGCTC	0.592																																																	0													45	44	45					19																	14044768		2203	4300	6503	SO:0001583	missense	0			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.711C>A	19.37:g.14044768G>T	ENSP00000345175:p.Ser237Arg		B7Z564|Q9H5G9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S237R	ENST00000339560.5	37	c.711	CCDS12300.1	19	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843459	0.71488	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	4.59	3.53	0.40419	.	0.251342	0.27996	N	0.017009	T	0.51295	0.1666	N	0.13003	0.285	0.28924	N	0.891981	D;D;B;P	0.76494	0.998;0.999;0.364;0.645	D;D;B;P	0.77557	0.95;0.99;0.439;0.516	T	0.42515	-0.9447	10	0.35671	T	0.21	.	10.329	0.43812	0.0992:0.0:0.9008:0.0	.	235;155;146;237	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	R	235;146;237;87;155	ENSP00000442553:S235R;ENSP00000440080:S146R;ENSP00000345175:S237R;ENSP00000254320:S155R	ENSP00000254320:S155R	S	-	3	2	PODNL1	13905768	0.980000	0.34600	1.000000	0.80357	0.994000	0.84299	0.295000	0.19065	2.101000	0.63845	0.591000	0.81541	AGC	PODNL1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000132000		0.592	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	PODNL1	HGNC	protein_coding	OTTHUMT00000457967.1		0	61	0	G	NM_024825		14044768	-1			no_errors	ENST00000339560	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	14044768	G	T	14044768	3	4	64	1	0	0	0	0	1	0	0	0	12218	1194	42	3	835	3	PODNL1	19	14044768	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	4974854	14044768	45084215	79	17820											
PDCD5	9141	genome.wustl.edu	37	chr19	33076747	33076747	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttagcacttgtaaagccTgaaaaaactaaagcagtaga	19	8	7	7	0	0	2	0	1	0	1	0	2	0	2	1	0	5	4	1	0	10	5			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:33076747T>C	ENST00000590247.2	+	4	386	c.192T>C	c.(190-192)ccT>ccC	p.P64P	PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000419343.3_Silent_p.P64P|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Silent_p.P26P	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	64					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					TTGTAAAGCCTGAAAAAACTA	0.313																																																	0													92	99	97					19																	33076747		2202	4300	6502	SO:0001819	synonymous_variant	0			AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"TFAR19 novel apoptosis-related", "TF1 cell apoptosis-related gene 19"	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.192T>C	19.37:g.33076747T>C			B4DE64|Q53YC9|Q6IB70	Silent	SNP	pfam_PDCD5-related,superfamily_PDCD5-related,pirsf_PDCD5-related	p.P64	ENST00000590247.2	37	c.192	CCDS12423.1	19																																																																																			PDCD5	-	pfam_PDCD5-related,superfamily_PDCD5-related,pirsf_PDCD5-related	ENSG00000105185		0.313	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD5	HGNC	protein_coding	OTTHUMT00000450320.2	-	0	32	0	T	NM_004708		33076747	1	tier1	-	no_errors	ENST00000590247	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.977	C	C	33076747	T	C	33076747	2	2	64	1	0	0	0	0	0	0	0	1	11661	1567	55	4		4	PDCD5	19	33076747	Silent	SNP	T	TCGA-L5-A4OQ-01A-11D-A27G-09	19031979	33076747	26052236	80	17821											
MEGF8	1954	genome.wustl.edu	37	chr19	42875612	42875612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagctcccccagtgaccGtcgagactgctacaagtacc	9	6	11	15	2	0	2	0	1	0	1	2	3	1	2	4	1	4	4	4	1	3	2			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:42875612G>A	ENST00000251268.6	+	41	7247	c.7247G>A	c.(7246-7248)cGt>cAt	p.R2416H	MEGF8_ENST00000378073.4_Intron|MEGF8_ENST00000334370.4_Missense_Mutation_p.R2349H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2416	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R2349H(1)|p.R1957H(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCAGTGACCGTCGAGACTGC	0.612																																																	2	Substitution - Missense(2)	large_intestine(2)											78	66	70					19																	42875612		2203	4300	6503	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7247G>A	19.37:g.42875612G>A	ENSP00000251268:p.Arg2416His		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R2416H	ENST00000251268.6	37	c.7247		19	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299681	0.81136	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22134	1.97;1.97	4.91	4.91	0.64330	EGF-like, laminin (1);	0.000000	0.64402	D	0.000001	T	0.25531	0.0621	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.63113	0.781;0.911	T	0.00956	-1.1501	10	0.44086	T	0.13	-28.0812	8.1771	0.31289	0.1743:0.0:0.8256:0.0	.	2416;2349	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	2349;2416	ENSP00000334219:R2349H;ENSP00000251268:R2416H	ENSP00000251268:R2416H	R	+	2	0	MEGF8	47567452	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.901000	0.56303	2.659000	0.90383	0.561000	0.74099	CGT	MEGF8	-	smart_EG-like_dom	ENSG00000105429		0.612	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	39	0	G	NM_001410		42875612	1			no_errors	ENST00000251268	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	42875612	G	A	42875612	3	1	64	1	0	0	0	0	1	0	0	0	9501	1145	40	1	7204	1	MEGF8	19	42875612	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	9798865	42875612	16253371	81	17822											
PSG3	5671	genome.wustl.edu	37	chr19	43228177	43228177	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcctgttcctgaaggaGctgtcatggaaaaaaaagaa	15	9	11	6	0	1	2	1	1	0	1	3	5	3	4	2	2	1	2	2	2	6	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:43228177G>T	ENST00000327495.5	-	6	1428	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	PSG3_ENST00000595140.1_Intron	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	415					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCCTGAAGGAGCTGTCATGGA	0.408																																																	0													111	104	106					19																	43228177		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1244-1C>A	19.37:g.43228177G>T			Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A415D	ENST00000327495.5	37	c.1244	CCDS12611.1	19	.	.	.	.	.	.	.	.	.	.	g	0.225	-1.025470	0.02061	.	.	ENSG00000221826	ENST00000327495	T	0.20738	2.05	0.738	0.738	0.18319	Immunoglobulin-like fold (1);	.	.	.	.	T	0.18087	0.0434	L	0.33189	0.99	0.09310	N	1	B	0.33135	0.399	B	0.43478	0.421	T	0.36768	-0.9734	8	0.10377	T	0.69	.	.	.	.	.	415	Q16557	PSG3_HUMAN	D	415	ENSP00000332215:A415D	ENSP00000332215:A415D	A	-	2	0	PSG3	47920017	0.030000	0.19436	0.205000	0.23548	0.057000	0.15508	-1.365000	0.02587	0.676000	0.31285	0.174000	0.16983	GCT	PSG3	-	NULL	ENSG00000221826		0.408	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	-	0	57	0	G	NM_021016	Missense_Mutation	43228177	-1	tier1	-	no_errors	ENST00000327495	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.296	T	T	43228177	G	T	43228177	5	4	64	1	0	0	0	0	0	0	1	0	12698	985	34	3	46	3	PSG3	19	43228177	Splice_Site	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	352565	43228177	15900806	82	17823											
ZNF701	55762	genome.wustl.edu	37	chr19	53085583	53085583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacttgcttccaggaaattGagaaagatattcatgacttt	14	14	7	6	0	1	3	1	2	0	2	2	5	2	4	1	1	2	1	1	1	4	7			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr19:53085583G>C	ENST00000540331.1	+	5	694	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.E91Q|ZNF701_ENST00000301093.2_Missense_Mutation_p.E157Q	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CCAGGAAATTGAGAAAGATAT	0.393																																					NSCLC(89;451 1475 9611 20673 52284)												0													98	97	97					19																	53085583		2203	4300	6503	SO:0001583	missense	0			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"Zinc fingers, C2H2-type", "-"	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.469G>C	19.37:g.53085583G>C	ENSP00000444339:p.Glu157Gln		A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E157Q	ENST00000540331.1	37	c.469	CCDS54311.1	19	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620087	0.14193	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05025	3.51;3.55;3.55	2.11	-4.23	0.03789	.	.	.	.	.	T	0.03520	0.0101	N	0.25890	0.77	0.09310	N	1	B;P	0.36974	0.363;0.576	B;B	0.40410	0.328;0.127	T	0.40308	-0.9570	9	0.10377	T	0.69	.	1.7682	0.03006	0.1767:0.2929:0.3855:0.1448	.	157;91	F5GZM6;Q9NV72	.;ZN701_HUMAN	Q	91;157;157	ENSP00000375662:E91Q;ENSP00000301093:E157Q;ENSP00000444339:E157Q	ENSP00000301093:E157Q	E	+	1	0	ZNF701	57777395	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.874000	0.01636	-0.332000	0.08489	0.306000	0.20318	GAG	ZNF701	-	NULL	ENSG00000167562		0.393	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	HGNC	protein_coding	OTTHUMT00000463467.1	-	0	93	0	G	NM_018260		53085583	1	tier1	-	no_errors	ENST00000301093	ensembl	human	known	74_37	missense	23.17	62	19	SNP	0.000	C	C	53085583	G	C	53085583	3	2	64	1	0	0	0	0	1	0	0	0	18153	1291	45	5	483	5	ZNF701	19	53085583	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	9857406	53085583	6043400	83	17824											
PCSK2	5126	genome.wustl.edu	37	chr20	17462531	17462531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggatttgtcggcagcgCcccgcagaagggggtgctga	6	7	18	10	3	0	2	0	1	0	1	1	3	0	3	2	4	2	4	2	4	1	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr20:17462531C>G	ENST00000262545.2	+	12	2048	c.1733C>G	c.(1732-1734)gCc>gGc	p.A578G	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.A543G|PCSK2_ENST00000377899.1_Missense_Mutation_p.A559G	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	578					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	GTCGGCAGCGCCCCGCAGAAG	0.617																																																	0													34	35	35					20																	17462531		2203	4300	6503	SO:0001583	missense	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1733C>G	20.37:g.17462531C>G	ENSP00000262545:p.Ala578Gly		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.A578G	ENST00000262545.2	37	c.1733	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	C	8.342	0.828934	0.16749	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.76578	-1.03;-1.03;-1.03	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.588945	0.20101	N	0.099225	T	0.52025	0.1709	N	0.02985	-0.445	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33777	-0.9855	10	0.19590	T	0.45	-3.3723	9.0959	0.36638	0.0:0.8448:0.0:0.1552	.	543;559;578	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	G	559;578;543	ENSP00000367131:A559G;ENSP00000262545:A578G;ENSP00000437458:A543G	ENSP00000262545:A578G	A	+	2	0	PCSK2	17410531	0.001000	0.12720	0.035000	0.18076	0.716000	0.41182	1.503000	0.35715	2.803000	0.96430	0.585000	0.79938	GCC	PCSK2	-	pfam_PrprotnconvertsP,superfamily_Galactose-bd-like	ENSG00000125851		0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	-	0	27	0	C	NM_002594		17462531	1	tier1	-	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.009	G	G	17462531	C	G	17462531	3	3	64	1	0	0	0	0	1	0	0	0	11640	739	26	5	1779	5	PCSK2	20	17462531	Missense_Mutation	SNP	C	TCGA-L5-A4OQ-01A-11D-A27G-09		17462531	45562989	84	17825											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19685373	19685373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactaaaccattgttgttcGttgtgccattgaaaaaacgc	12	12	8	9	2	0	1	0	1	0	0	1	1	0	1	2	0	3	4	2	0	5	6			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr21:19685373G>T	ENST00000284885.3	-	18	2087	c.2054C>A	c.(2053-2055)aCg>aAg	p.T685K		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	685	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTGTTGTTCGTtgtgccatt	0.443																																																	0													130	114	120					21																	19685373		2203	4300	6503	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2054C>A	21.37:g.19685373G>T	ENSP00000284885:p.Thr685Lys		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.T685K	ENST00000284885.3	37	c.2054	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	g	0	-2.734431	0.00089	.	.	ENSG00000154646	ENST00000284885	T	0.28666	1.6	5.71	-11.4	0.00090	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.755870	0.02854	N	0.129460	T	0.17746	0.0426	L	0.40543	1.245	0.09310	N	1	B	0.29212	0.237	B	0.28232	0.087	T	0.07366	-1.0776	9	.	.	.	.	2.6936	0.05127	0.5408:0.1996:0.0686:0.191	.	685	P98073	ENTK_HUMAN	K	685	ENSP00000284885:T685K	.	T	-	2	0	TMPRSS15	18607244	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.937000	0.00330	-4.286000	0.00059	-2.029000	0.00425	ACG	TMPRSS15	-	pfam_SRCR,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000154646		0.443	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2		0	44	0	G	NM_002772		19685373	-1			no_errors	ENST00000284885	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T	T	19685373	G	T	19685373	3	4	64	1	0	0	0	0	1	0	0	0	16293	1145	40	2	1037	2	TMPRSS15	21	19685373	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		19685373	28444522	85	17826											
USP18	11274	genome.wustl.edu	37	chr22	18640567	18640567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccagagagcgtcccaGggcctgggactaccctcatg	8	5	13	15	1	1	1	1	0	0	1	2	3	2	2	4	2	3	1	4	2	1	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chr22:18640567G>A	ENST00000215794.7	+	2	567	c.137G>A	c.(136-138)aGg>aAg	p.R46K		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	46					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						GAGCGTCCCAGGGCCTGGGAC	0.562																																																	0													103	102	102					22																	18640567		2203	4300	6503	SO:0001583	missense	0			AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"Ubiquitin-specific peptidases"	12616	protein-coding gene	gene with protein product		607057	"ubiquitin specific protease 18"			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.137G>A	22.37:g.18640567G>A	ENSP00000215794:p.Arg46Lys		Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R46K	ENST00000215794.7	37	c.137	CCDS13752.1	22	.	.	.	.	.	.	.	.	.	.	.	7.088	0.571508	0.13623	.	.	ENSG00000184979	ENST00000215794	T	0.05996	3.36	4.76	1.59	0.23543	.	1.003230	0.08027	N	0.992886	T	0.03263	0.0095	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.42982	-0.9419	10	0.02654	T	1	.	6.1843	0.20488	0.3076:0.0:0.6924:0.0	.	46	Q9UMW8	UBP18_HUMAN	K	46	ENSP00000215794:R46K	ENSP00000215794:R46K	R	+	2	0	USP18	17020567	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	0.348000	0.20031	0.729000	0.32403	0.591000	0.81541	AGG	USP18	-	NULL	ENSG00000184979		0.562	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP18	HGNC	protein_coding	OTTHUMT00000316368.1	-	0	38	0	G			18640567	1	tier1	-	no_errors	ENST00000215794	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.001	A	A	18640567	G	A	18640567	3	1	64	1	0	0	0	0	1	0	0	0	17098	1000	35	3	139	3	USP18	22	18640567	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		18640567	32663999	86	17827											
COL4A5	1287	genome.wustl.edu	37	chrX	107802335	107802335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaggacacccaggattGcctggatttccaggtccaga	10	9	12	10	0	0	1	0	0	0	1	2	5	2	5	4	5	1	0	4	5	1	3			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chrX:107802335G>T	ENST00000361603.2	+	3	427	c.183G>T	c.(181-183)ttG>ttT	p.L61F	COL4A5_ENST00000328300.6_Missense_Mutation_p.L61F	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	61	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACCCAGGATTGCCTGGATTTC	0.468									Alport syndrome with Diffuse Leiomyomatosis																																								0													115	109	111					X																	107802335		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.183G>T	X.37:g.107802335G>T	ENSP00000354505:p.Leu61Phe		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L61F	ENST00000361603.2	37	c.183	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	2.137	-0.397730	0.04899	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96300	-3.97;-3.97	5.6	1.57	0.23409	.	0.217738	0.33346	N	0.005018	D	0.91885	0.7431	L	0.38175	1.15	0.43084	D	0.994745	B;B	0.33345	0.409;0.409	B;B	0.38500	0.275;0.275	D	0.83722	0.0193	10	0.10111	T	0.7	.	8.4924	0.33108	0.6131:0.0:0.3869:0.0	.	61;61	E7EVY4;P29400	.;CO4A5_HUMAN	F	61	ENSP00000331902:L61F;ENSP00000354505:L61F	ENSP00000331902:L61F	L	+	3	2	COL4A5	107688991	0.996000	0.38824	0.999000	0.59377	0.848000	0.48234	0.323000	0.19593	-0.017000	0.14103	-1.195000	0.01675	TTG	COL4A5	-	NULL	ENSG00000188153		0.468	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0	14	0	G			107802335	1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T	T	107802335	G	T	107802335	3	4	64	1	0	0	0	0	1	0	0	0	3701	1310	46	3	193	3	COL4A5	23	107802335	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09		107802335	47468225	87	17828											
ZNF185	7739	genome.wustl.edu	37	chrX	152091293	152091293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggaccaaagcgtctcGggcaatttggatcgagtgcc	10	7	14	10	3	1	0	0	0	1	0	3	3	1	2	2	4	2	2	2	4	2	1			TCGA-L5-A4OQ-01A-11D-A27G-09	TCGA-L5-A4OQ-11A-12D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ef228907-c929-4e96-b91e-016838b393da	deb263ba-4437-4d37-bde6-67d28cff9bf3	g.chrX:152091293G>A	ENST00000370268.4	+	11	804	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000535861.1_Missense_Mutation_p.R256Q|ZNF185_ENST00000370270.2_Missense_Mutation_p.R256Q|ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000449285.2_Missense_Mutation_p.R257Q|ZNF185_ENST00000318529.8_Intron|ZNF185_ENST00000539731.1_Missense_Mutation_p.R256Q			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	256						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGCGTCTCGGGCAATTTGG	0.612																																																	0													41	44	43					X																	152091293		2146	4226	6372	SO:0001583	missense	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.767G>A	X.37:g.152091293G>A	ENSP00000359291:p.Arg256Gln		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.R256Q	ENST00000370268.4	37	c.767	CCDS48184.1	X	.	.	.	.	.	.	.	.	.	.	G	3.549	-0.092033	0.07053	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000449285;ENST00000433245;ENST00000370268	T;T;T;T	0.44482	0.94;0.92;0.96;0.96	3.15	-5.38	0.02673	.	.	.	.	.	T	0.13628	0.0330	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.34254	-0.9836	9	0.30078	T	0.28	.	10.7026	0.45937	0.5696:0.0:0.4304:0.0	.	257;256;256;256;256	O15231-3;B8K2M0;F5GZL4;F5GXF7;O15231	.;.;.;.;ZN185_HUMAN	Q	256;256;257;122;256	ENSP00000440847:R256Q;ENSP00000444367:R256Q;ENSP00000395228:R257Q;ENSP00000359291:R256Q	ENSP00000359291:R256Q	R	+	2	0	ZNF185	151841949	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.550000	0.00929	-1.815000	0.01222	-1.412000	0.01120	CGG	ZNF185	-	NULL	ENSG00000147394		0.612	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	-	0	45	0	G	NM_007150		152091293	1	tier1	-	no_errors	ENST00000370270	ensembl	human	known	74_37	missense	33.87	41	21	SNP	0.000	A	A	152091293	G	A	152091293	3	1	64	1	0	0	0	0	1	0	0	0	17800	1116	39	1	827	1	ZNF185	23	152091293	Missense_Mutation	SNP	G	TCGA-L5-A4OQ-01A-11D-A27G-09	44288958	152091293	3179267	88	17829											
PRAMEF12	390999	genome.wustl.edu	37	chr1	12835214	12835214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgccttcctctagggtcCctgatgaagtcatgtaatct	8	13	8	12	0	3	2	1	2	2	0	5	2	5	2	4	1	1	1	4	1	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:12835214C>T	ENST00000357726.4	+	1	231	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	68					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTAGGGTCCCTGATGAAGT	0.562																																																	0													79	84	82					1																	12835214		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"-"	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.204C>T	1.37:g.12835214C>T				Silent	SNP	NULL	p.S68	ENST00000357726.4	37	c.204	CCDS41254.1	1																																																																																			PRAMEF12	-	NULL	ENSG00000116726		0.562	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	HGNC	protein_coding	OTTHUMT00000005457.1	-	0	100	0	C	XM_372760		12835214	1	tier1	-	no_errors	ENST00000357726	ensembl	human	known	74_37	silent	58.06	39	54	SNP	0.005	T	T	12835214	C	T	12835214	2	4	65	1	0	0	0	0	0	0	0	1	12470	610	22	3		3	PRAMEF12	1	12835214	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09		12835214	236415407	1	17830											
PRAMEF6	440561	genome.wustl.edu	37	chr1	13001274	13001274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctctcatccttggacagtCctgcactggtgttttgttcc	4	16	8	13	0	1	0	1	0	1	0	6	1	5	1	4	2	1	3	4	2	0	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:13001274C>G	ENST00000376189.1	-	3	508	c.409G>C	c.(409-411)Gac>Cac	p.D137H	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.D137H	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	137					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGACAGTCCTGCACTGGT	0.502																																																	0													340	594	503					1																	13001274		1508	2708	4216	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.409G>C	1.37:g.13001274C>G	ENSP00000365360:p.Asp137His		A0AUJ9	Missense_Mutation	SNP	NULL	p.D137H	ENST00000376189.1	37	c.409	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	2.101	-0.406012	0.04832	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.20881	2.04;2.04;2.04	1.11	-1.44	0.08856	.	2.749980	0.01273	N	0.009510	T	0.19886	0.0478	L	0.52364	1.645	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.21381	-1.0247	10	0.51188	T	0.08	.	3.3983	0.07313	0.2789:0.4451:0.276:0.0	.	137	Q5VXH4	PRAM6_HUMAN	H	137	ENSP00000365360:D137H;ENSP00000401281:D137H;ENSP00000347211:D137H	ENSP00000347211:D137H	D	-	1	0	PRAMEF6	12923861	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.472000	0.02341	-0.555000	0.06142	-1.597000	0.00832	GAC	PRAMEF6	-	NULL	ENSG00000232423		0.502	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0	404	0	C	NM_001010889		13001274	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	6.99	359	27	SNP	0.000	G	G	13001274	C	G	13001274	3	3	65	1	0	0	0	0	1	0	0	0	12480	855	30	5	1029	5	PRAMEF6	1	13001274	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	166060	13001274	236249347	2	17831											
ZSWIM5	57643	genome.wustl.edu	37	chr1	45504721	45504721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccctccaggtttgtgatgGttgtggttcctctctgcaac	5	14	11	11	0	1	1	0	1	1	0	4	1	3	1	3	3	3	4	3	3	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:45504721G>A	ENST00000359600.5	-	8	1986	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	594						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTTTGTGATGGTTGTGGTTCC	0.512																																																	0													72	74	74					1																	45504721		1883	4110	5993	SO:0001583	missense	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1781C>T	1.37:g.45504721G>A	ENSP00000352614:p.Thr594Ile		Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.T594I	ENST00000359600.5	37	c.1781	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704703	0.48412	.	.	ENSG00000162415	ENST00000359600	T	0.44083	0.93	5.18	5.18	0.71444	.	0.142736	0.64402	D	0.000007	T	0.39009	0.1062	L	0.40543	1.245	0.46396	D	0.999027	B	0.17465	0.022	B	0.18561	0.022	T	0.10753	-1.0616	10	0.34782	T	0.22	-13.2346	19.5913	0.95511	0.0:0.0:1.0:0.0	.	594	Q9P217	ZSWM5_HUMAN	I	594	ENSP00000352614:T594I	ENSP00000352614:T594I	T	-	2	0	ZSWIM5	45277308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.436000	0.66538	2.813000	0.96785	0.655000	0.94253	ACC	ZSWIM5	-	NULL	ENSG00000162415		0.512	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	-	0	11	0	G	XM_046581		45504721	-1	tier1	-	no_errors	ENST00000359600	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A	A	45504721	G	A	45504721	3	1	65	1	0	0	0	0	1	0	0	0	18292	1261	44	3	1804	3	ZSWIM5	1	45504721	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	32503447	45504721	203745900	3	17832											
MMACHC	25974	genome.wustl.edu	37	chr1	45974675	45974675	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggatgctgtgacaccccagGagcgctactcagaagagcag	11	5	14	11	1	1	3	1	1	0	2	1	5	1	5	2	2	4	3	2	2	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:45974675G>T	ENST00000401061.4	+	4	917	c.637G>T	c.(637-639)Gag>Tag	p.E213*		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	213					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACCCCAGGAGCGCTACTC	0.552																																																	0													104	111	109					1																	45974675		2024	4188	6212	SO:0001587	stop_gained	0				CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.637G>T	1.37:g.45974675G>T	ENSP00000383840:p.Glu213*		Q5T157|Q9BRQ7	Nonsense_Mutation	SNP	NULL	p.E213*	ENST00000401061.4	37	c.637	CCDS41324.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.517804	0.98332	.	.	ENSG00000132763	ENST00000401061	.	.	.	5.8	5.8	0.92144	.	0.156269	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.1466	19.6644	0.95887	0.0:0.0:1.0:0.0	.	.	.	.	X	213	.	ENSP00000383840:E213X	E	+	1	0	MMACHC	45747262	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	7.040000	0.76551	2.758000	0.94735	0.563000	0.77884	GAG	MMACHC	-	NULL	ENSG00000132763		0.552	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMACHC	HGNC	protein_coding	OTTHUMT00000020864.2		0	28	0	G	NM_015506		45974675	1			no_errors	ENST00000401061	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.980	T	T	45974675	G	T	45974675	4	4	65	1	0	0	0	0	0	1	0	0	9679	1175	41	3	651	3	MMACHC	1	45974675	Nonsense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	469954	45974675	203275946	4	17833											
CELSR2	1952	genome.wustl.edu	37	chr1	109795272	109795272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacaccttccaaggaggCgacgatggagacggtgactt	10	9	12	10	3	1	2	0	1	1	1	2	6	2	3	2	4	1	0	2	4	2	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:109795272C>T	ENST00000271332.3	+	1	2632	c.2571C>T	c.(2569-2571)ggC>ggT	p.G857G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	857	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCAAGGAGGCGACGATGGAG	0.547																																					NSCLC(158;1285 2011 34800 34852 42084)												0													113	104	107					1																	109795272		2203	4300	6503	SO:0001819	synonymous_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2571C>T	1.37:g.109795272C>T			Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.G857	ENST00000271332.3	37	c.2571	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.547	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	0	44	0	C	NM_001408		109795272	1	tier1	-	no_errors	ENST00000271332	ensembl	human	known	74_37	silent	14.04	49	8	SNP	0.060	T	T	109795272	C	T	109795272	2	4	65	1	0	0	0	0	0	0	0	1	3229	755	27	1		1	CELSR2	1	109795272	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	63820597	109795272	139455349	5	17834											
KCNA3	3738	genome.wustl.edu	37	chr1	111215785	111215785	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggcagtggaattgccCgttttgaaaggggtctgggg	7	10	18	6	1	1	1	0	1	1	0	1	2	1	2	1	7	1	2	1	7	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:111215785C>G	ENST00000369769.2	-	1	1870	c.1647G>C	c.(1645-1647)acG>acC	p.T549T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	549					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGGAATTGCCCGTTTTGAAAG	0.448																																																	0													154	143	146					1																	111215785		2203	4300	6503	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1647G>C	1.37:g.111215785C>G			Q5VWN2	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.T549	ENST00000369769.2	37	c.1647	CCDS828.2	1																																																																																			KCNA3	-	NULL	ENSG00000177272		0.448	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0	40	0	C	NM_002232		111215785	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	silent	30.36	39	17	SNP	1.000	G	G	111215785	C	G	111215785	2	3	65	1	0	0	0	0	0	0	0	1	8031	639	23	5		5	KCNA3	1	111215785	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	1420513	111215785	138034836	6	17835											
IVL	3713	genome.wustl.edu	37	chr1	152883289	152883289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagcagctggaggagcAggaggggcagctgaagcacc	11	3	18	9	0	0	1	0	1	0	0	0	5	0	5	1	6	5	6	1	6	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:152883289A>G	ENST00000368764.3	+	2	1080	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	IVL_ENST00000392667.2_Missense_Mutation_p.Q193R			P07476	INVO_HUMAN	involucrin	339	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctggaggagcaggaggggcag	0.667																																																	0													15	15	15					1																	152883289		2121	4183	6304	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1016A>G	1.37:g.152883289A>G	ENSP00000357753:p.Gln339Arg		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q339R	ENST00000368764.3	37	c.1016	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	9.592	1.126482	0.20959	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11495	3.0;2.77	3.12	-1.16	0.09678	.	.	.	.	.	T	0.04543	0.0124	L	0.48642	1.525	0.09310	N	1	P	0.47841	0.901	P	0.51974	0.686	T	0.29336	-1.0015	9	0.16420	T	0.52	.	4.6761	0.12712	0.515:0.361:0.124:0.0	.	339	P07476	INVO_HUMAN	R	339;193	ENSP00000357753:Q339R;ENSP00000376435:Q193R	ENSP00000357753:Q339R	Q	+	2	0	IVL	151149913	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.538000	0.02204	-0.163000	0.10946	0.456000	0.33151	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.667	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	49	0	A	NM_005547		152883289	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	41.94	36	26	SNP	0.004	G	G	152883289	A	G	152883289	3	3	65	1	0	0	0	0	1	0	0	0	7956	188	7	4	1018	4	IVL	1	152883289	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	41667504	152883289	96367332	7	17836											
OR10K2	391107	genome.wustl.edu	37	chr1	158390306	158390306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtaacgatcataacccatGactgccagcagaaaggagtg	15	7	10	9	1	1	2	1	1	0	1	1	4	1	3	2	1	4	2	2	1	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:158390306G>A	ENST00000314902.2	-	1	350	c.351C>T	c.(349-351)gtC>gtT	p.V117V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CATAACCCATGACTGCCAGCA	0.517																																																	0													176	171	173					1																	158390306		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"GPCR / Class A : Olfactory receptors"	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.351C>T	1.37:g.158390306G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V117	ENST00000314902.2	37	c.351	CCDS30896.1	1																																																																																			OR10K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180708		0.517	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	-	0	47	0	G	NM_001004476		158390306	-1	tier1	-	no_errors	ENST00000314902	ensembl	human	known	74_37	silent	41.46	24	17	SNP	0.993	A	A	158390306	G	A	158390306	2	1	65	1	0	0	0	0	0	0	0	1	10953	1277	45	3		3	OR10K2	1	158390306	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	5507017	158390306	90860315	8	17837											
ATP1A4	480	genome.wustl.edu	37	chr1	160124898	160124898	+	Frame_Shift_Del	DEL	C	C	-																															gacccaatactgttaccccaCcccccaccactccagaatgg																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:160124898delC	ENST00000368081.4	+	3	742	c.271delC	c.(271-273)cccfs	p.P92fs		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	92	Interaction with phosphoinositide-3 kinase. {ECO:0000250}.				ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTTACCCCACCCCCCACCAC	0.527																																																	0													114	113	114					1																	160124898		2203	4300	6503	SO:0001589	frameshift_variant	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.271delC	1.37:g.160124898delC	ENSP00000357060:p.Pro92fs		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.T93fs	ENST00000368081.4	37	c.271	CCDS1197.1	1																																																																																			ATP1A4	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000132681		0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1		0	46	0	C	NM_144699		160124898	1	tier1		no_errors	ENST00000368081	ensembl	human	known	74_37	frame_shift_del	26.76	52	19	DEL	1.000	-	-	160124898	C	-	160124898	7	5	65	1	0	1	0	1	0	0	0	0	1132	507	18	0	281	0	ATP1A4	1	160124898	Frame_Shift_Del	DEL	C	TCGA-L5-A4OR-01A-11D-A27G-09	1734592	160124898	89125723	9	17838											
ASTN1	460	genome.wustl.edu	37	chr1	177030356	177030356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccattctccagccactgcTgcctccagcgcaccaaaggg	8	7	9	17	1	1	0	0	0	1	0	3	0	2	0	6	1	5	2	6	1	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:177030356T>A	ENST00000367654.3	-	2	540	c.329A>T	c.(328-330)cAg>cTg	p.Q110L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.Q110L|ASTN1_ENST00000361833.2_Missense_Mutation_p.Q110L|ASTN1_ENST00000367657.3_Missense_Mutation_p.Q110L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	110					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGCCACTGCTGCCTCCAGCG	0.502																																																	0													168	161	164					1																	177030356		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.329A>T	1.37:g.177030356T>A	ENSP00000356626:p.Gln110Leu		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.Q110L	ENST00000367654.3	37	c.329		1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777263	0.70107	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15834	2.39;2.8;2.8;2.39	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	L	0.52573	1.65	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.72982	0.979;0.979;0.979	T	0.05338	-1.0891	10	0.72032	D	0.01	-13.5602	16.2708	0.82618	0.0:0.0:0.0:1.0	.	110;110;110	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	110	ENSP00000356629:Q110L;ENSP00000354536:Q110L;ENSP00000356626:Q110L;ENSP00000395041:Q110L	ENSP00000354536:Q110L	Q	-	2	0	ASTN1	175296979	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.897000	0.87356	2.324000	0.78689	0.533000	0.62120	CAG	ASTN1	-	NULL	ENSG00000152092		0.502	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	52	0	T	NM_004319		177030356	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	22.03	46	13	SNP	1.000	A	A	177030356	T	A	177030356	3	1	65	1	0	0	0	0	1	0	0	0	1065	1580	55	5	3647	5	ASTN1	1	177030356	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	16905458	177030356	72220265	10	17839											
ASTN1	460	genome.wustl.edu	37	chr1	177030375	177030375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcctccagcgcaccaaagGgatatcctctgtgttccctg	7	10	9	15	1	1	0	0	0	1	0	4	1	4	1	5	1	2	2	5	1	2	2	rs138326291		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:177030375G>T	ENST00000367654.3	-	2	521	c.310C>A	c.(310-312)Cct>Act	p.P104T	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.P104T|ASTN1_ENST00000361833.2_Missense_Mutation_p.P104T|ASTN1_ENST00000367657.3_Missense_Mutation_p.P104T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	104					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGCACCAAAGGGATATCCTCT	0.502																																																	0													147	141	143					1																	177030375		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.310C>A	1.37:g.177030375G>T	ENSP00000356626:p.Pro104Thr		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.P104T	ENST00000367654.3	37	c.310		1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793774	0.90453	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14266	2.52;2.94;2.94;2.52	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.00498	-1.1704	10	0.19147	T	0.46	-20.2983	20.2159	0.98296	0.0:0.0:1.0:0.0	.	104;104;104	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	T	104	ENSP00000356629:P104T;ENSP00000354536:P104T;ENSP00000356626:P104T;ENSP00000395041:P104T	ENSP00000354536:P104T	P	-	1	0	ASTN1	175296998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.689000	0.98673	2.882000	0.98803	0.655000	0.94253	CCT	ASTN1	-	NULL	ENSG00000152092		0.502	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	50	0	G	NM_004319		177030375	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	T	T	177030375	G	T	177030375	3	4	65	1	0	0	0	0	1	0	0	0	1065	1232	43	3	3666	3	ASTN1	1	177030375	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	19	177030375	72220246	11	17840											
IER5	51278	genome.wustl.edu	37	chr1	181058830	181058830	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcggaggagatggagaccggGaacgtggctaacctcatcag	11	5	16	9	3	2	2	2	0	0	2	2	6	2	4	2	5	2	1	2	5	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:181058830G>C	ENST00000367577.4	+	1	1193	c.792G>C	c.(790-792)ggG>ggC	p.G264G	RP11-309G3.3_ENST00000606938.1_lincRNA	NM_016545.4	NP_057629.2	Q5VY09	IER5_HUMAN	immediate early response 5	264										lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	4						TGGAGACCGGGAACGTGGCTA	0.662																																																	0													38	37	38					1																	181058830		2202	4298	6500	SO:0001819	synonymous_variant	0			BC000128	CCDS1343.1	1q25.3	2008-02-05			ENSG00000162783	ENSG00000162783			5393	protein-coding gene	gene with protein product		607177				10049588, 11102586	Standard	NM_016545		Approved		uc001got.4	Q5VY09	OTTHUMG00000035178	ENST00000367577.4:c.792G>C	1.37:g.181058830G>C			B2RBV3|Q8WY68|Q9NY49|Q9NZP9	Silent	SNP	pfam_IER	p.G264	ENST00000367577.4	37	c.792	CCDS1343.1	1																																																																																			IER5	-	pfam_IER	ENSG00000162783		0.662	IER5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5	HGNC	protein_coding	OTTHUMT00000085142.1	-	0	33	0	G	NM_016545		181058830	1	tier1	-	no_errors	ENST00000367577	ensembl	human	known	74_37	silent	25.00	45	15	SNP	0.988	C	C	181058830	G	C	181058830	2	2	65	1	0	0	0	0	0	0	0	1	7535	1161	41	5		5	IER5	1	181058830	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	4028455	181058830	68191791	12	17841											
CACNA1E	777	genome.wustl.edu	37	chr1	181745356	181745356	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggcagaatatgaccgAgcagcatggtgcgtaggccc	9	7	15	10	2	1	2	0	1	1	1	1	3	1	2	2	3	3	4	2	3	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:181745356A>G	ENST00000367573.2	+	38	5259	c.5259A>G	c.(5257-5259)cgA>cgG	p.R1753R	CACNA1E_ENST00000358338.5_Silent_p.R1685R|CACNA1E_ENST00000367567.4_Silent_p.R1360R|CACNA1E_ENST00000360108.3_Silent_p.R1734R|CACNA1E_ENST00000367570.1_Silent_p.R1753R|CACNA1E_ENST00000357570.5_Silent_p.R1704R|CACNA1E_ENST00000526775.1_Silent_p.R1734R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATATGACCGAGCAGCATGGT	0.612																																																	0													100	101	101					1																	181745356		1949	4134	6083	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5259A>G	1.37:g.181745356A>G			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1753	ENST00000367573.2	37	c.5259	CCDS55664.1	1																																																																																			CACNA1E	-	pfscan_EF_hand_dom	ENSG00000198216		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	17	0	A	NM_000721		181745356	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.997	G	G	181745356	A	G	181745356	2	3	65	1	0	0	0	0	0	0	0	1	2549	291	11	4		4	CACNA1E	1	181745356	Silent	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	686526	181745356	67505265	13	17842											
HMCN1	83872	genome.wustl.edu	37	chr1	185992214	185992214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaccctgttggaagatgCtggcagatacacatgtgtgg	12	9	12	8	0	0	2	0	0	0	2	0	3	0	3	1	3	3	3	1	3	4	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:185992214C>G	ENST00000271588.4	+	36	5907	c.5678C>G	c.(5677-5679)gCt>gGt	p.A1893G	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1893G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1893	Ig-like C2-type 16.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGGAAGATGCTGGCAGATAC	0.413																																																	0													127	124	125					1																	185992214		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5678C>G	1.37:g.185992214C>G	ENSP00000271588:p.Ala1893Gly		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A1893G	ENST00000271588.4	37	c.5678	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408170	0.62399	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68624	-0.34;-0.34	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104211	0.64402	D	0.000004	T	0.63908	0.2551	L	0.33093	0.98	0.51482	D	0.999922	P	0.41420	0.749	B	0.44108	0.441	T	0.62932	-0.6749	10	0.38643	T	0.18	.	19.4215	0.94723	0.0:1.0:0.0:0.0	.	1893	Q96RW7	HMCN1_HUMAN	G	1893	ENSP00000271588:A1893G;ENSP00000356462:A1893G	ENSP00000271588:A1893G	A	+	2	0	HMCN1	184258837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.452000	0.80683	2.578000	0.87016	0.644000	0.83932	GCT	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	32	0	C	NM_031935		185992214	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	26.00	37	13	SNP	1.000	G	G	185992214	C	G	185992214	3	3	65	1	0	0	0	0	1	0	0	0	7247	797	28	5	5820	5	HMCN1	1	185992214	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	4246858	185992214	63258407	14	17843											
TROVE2	6738	genome.wustl.edu	37	chr1	193051321	193051321	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgaatttttcaggttgtCacacgaacagaaaaagattc	15	12	7	7	1	2	3	2	1	0	2	3	4	2	3	0	1	1	1	0	1	4	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:193051321C>G	ENST00000367446.3	+	7	1419	c.1209C>G	c.(1207-1209)gtC>gtG	p.V403V	TROVE2_ENST00000432079.1_Silent_p.V128V|TROVE2_ENST00000367445.3_Silent_p.V403V|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000400968.2_Silent_p.V403V|TROVE2_ENST00000416058.2_Silent_p.V128V|TROVE2_ENST00000367441.1_Silent_p.V403V|TROVE2_ENST00000367444.3_Silent_p.V403V|TROVE2_ENST00000367443.1_Silent_p.V403V	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	403	VWFA-like domain. {ECO:0000250}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TTCAGGTTGTCACACGAACAG	0.338																																																	0													98	90	93					1																	193051321		1815	4071	5886	SO:0001819	synonymous_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.1209C>G	1.37:g.193051321C>G			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	pfam_TROVE,pfscan_TROVE	p.V403	ENST00000367446.3	37	c.1209	CCDS1379.1	1																																																																																			TROVE2	-	NULL	ENSG00000116747		0.338	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1	-	0	36	0	C	NM_004600		193051321	1	tier1	-	no_errors	ENST00000367441	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.989	G	G	193051321	C	G	193051321	2	3	65	1	0	0	0	0	0	0	0	1	16624	813	29	5		5	TROVE2	1	193051321	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	7059107	193051321	56199300	15	17844											
NR5A2	2494	genome.wustl.edu	37	chr1	200089966	200089966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccataatagcatcacaagccGgagccaccctcaacaacctc	14	5	5	17	1	2	0	2	0	0	0	3	1	2	1	5	1	5	1	5	1	5	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:200089966G>A	ENST00000367362.3	+	7	1507	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R	NR5A2_ENST00000544748.1_Missense_Mutation_p.G349R|NR5A2_ENST00000236914.3_Missense_Mutation_p.G375R	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	421	Lipid binding.				bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATCACAAGCCGGAGCCACCCT	0.418																																					Melanoma(179;1138 2773 15678 26136)												0													163	135	144					1																	200089966		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.1261G>A	1.37:g.200089966G>A	ENSP00000356331:p.Gly421Arg		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.G421R	ENST00000367362.3	37	c.1261	CCDS1401.1	1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959223	0.92726	.	.	ENSG00000116833	ENST00000367362;ENST00000236914;ENST00000544748	D;D;D	0.96554	-4.05;-4.05;-4.05	5.72	5.72	0.89469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.045811	0.85682	D	0.000000	D	0.96694	0.8921	M	0.83223	2.63	0.80722	D	1	P;P	0.43542	0.701;0.81	B;B	0.42851	0.16;0.4	D	0.96219	0.9159	9	.	.	.	.	20.3236	0.98685	0.0:0.0:1.0:0.0	.	375;421	F1D8R9;O00482	.;NR5A2_HUMAN	R	421;375;349	ENSP00000356331:G421R;ENSP00000236914:G375R;ENSP00000439116:G349R	.	G	+	1	0	NR5A2	198356589	1.000000	0.71417	0.438000	0.26821	0.315000	0.28087	7.967000	0.87967	2.876000	0.98609	0.644000	0.83932	GGA	NR5A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.418	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2	-	0	71	0	G			200089966	1	tier1	-	no_errors	ENST00000367362	ensembl	human	known	74_37	missense	33.85	43	22	SNP	0.998	A	A	200089966	G	A	200089966	3	1	65	1	0	0	0	0	1	0	0	0	10675	1117	39	1	1287	1	NR5A2	1	200089966	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	7038645	200089966	49160655	16	17845											
PROX1	5629	genome.wustl.edu	37	chr1	214171262	214171262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctggcggccaccacCagcccctgcaccagtcgcct	5	5	10	21	3	0	0	0	0	0	0	1	0	0	0	8	2	3	2	8	2	0	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:214171262C>A	ENST00000366958.4	+	2	1992	c.1384C>A	c.(1384-1386)Cag>Aag	p.Q462K	PROX1_ENST00000498508.2_Missense_Mutation_p.Q462K|PROX1_ENST00000435016.1_Missense_Mutation_p.Q462K|PROX1_ENST00000261454.4_Missense_Mutation_p.Q462K	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	462					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGGCCACCACCAGCCCCTGCA	0.637																																																	0													64	78	73					1																	214171262		2203	4300	6503	SO:0001583	missense	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1384C>A	1.37:g.214171262C>A	ENSP00000355925:p.Gln462Lys		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.Q462K	ENST00000366958.4	37	c.1384	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236767	0.22711	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.71	5.71	0.89125	.	0.105477	0.64402	D	0.000004	T	0.25975	0.0633	N	0.08118	0	0.34058	D	0.657002	B	0.09022	0.002	B	0.10450	0.005	T	0.23048	-1.0199	10	0.25751	T	0.34	-4.393	16.3519	0.83215	0.0:0.8594:0.1406:0.0	.	462	Q92786	PROX1_HUMAN	K	34;462;462;462;462	ENSP00000420283:Q462K;ENSP00000355925:Q462K;ENSP00000400694:Q462K;ENSP00000261454:Q462K	ENSP00000261454:Q462K	Q	+	1	0	PROX1	212237885	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.330000	0.52068	2.697000	0.92050	0.655000	0.94253	CAG	PROX1	-	pfam_Homeo_prospero_dom	ENSG00000117707		0.637	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	-	0	26	0	C	NM_002763		214171262	1	tier1	-	no_errors	ENST00000261454	ensembl	human	known	74_37	missense	52.63	18	20	SNP	1.000	A	A	214171262	C	A	214171262	3	1	65	1	0	0	0	0	1	0	0	0	12602	595	21	3	1386	3	PROX1	1	214171262	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	14081296	214171262	35079359	17	17846											
TAF5L	27097	genome.wustl.edu	37	chr1	229738643	229738643	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaggagaggcatcacttCgtggctatgctgggaatcag	11	9	14	7	1	2	2	2	0	0	2	3	4	2	3	0	4	1	3	0	4	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:229738643C>A	ENST00000366676.1	-	3	270	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	TAF5L_ENST00000366675.3_Nonsense_Mutation_p.E91*|TAF5L_ENST00000258281.2_Nonsense_Mutation_p.E91*			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	91					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCATCACTTCGTGGCTATGC	0.443																																																	0													47	47	47					1																	229738643		2203	4300	6503	SO:0001587	stop_gained	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.271G>T	1.37:g.229738643C>A	ENSP00000355636:p.Glu91*		Q5TDI5|Q5TDI6|Q8IW31	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E91*	ENST00000366676.1	37	c.271	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.206761	0.97376	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.2957	19.6643	0.95887	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	.	E	-	1	0	TAF5L	227805266	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.994000	0.76251	2.642000	0.89623	0.655000	0.94253	GAA	TAF5L	-	pfam_TFIID-su_WD40-assoc_reg	ENSG00000135801		0.443	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0	66	0	C	NM_014409		229738643	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	nonsense	17.74	51	11	SNP	1.000	A	A	229738643	C	A	229738643	4	1	65	1	0	0	0	0	0	1	0	0	15576	893	31	2	1512	2	TAF5L	1	229738643	Nonsense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	15567381	229738643	19511978	18	17847											
WDR64	128025	genome.wustl.edu	37	chr1	241886718	241886718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaagatcaacatgtcGtcagcctttcctctgcaaag	14	10	7	10	1	3	2	2	1	1	1	5	2	4	2	2	0	3	1	2	0	4	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr1:241886718G>A	ENST00000366552.2	+	9	1351	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	WDR64_ENST00000437684.2_Missense_Mutation_p.V382I	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	382										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TCAACATGTCGTCAGCCTTTC	0.398																																																	0													82	77	78					1																	241886718		2203	4300	6503	SO:0001583	missense	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1144G>A	1.37:g.241886718G>A	ENSP00000355510:p.Val382Ile		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V382I	ENST00000366552.2	37	c.1144		1	.	.	.	.	.	.	.	.	.	.	G	0.996	-0.692367	0.03303	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.44083	1.51;0.93;4.94	4.7	3.57	0.40892	.	0.208574	0.33110	N	0.005269	T	0.10809	0.0264	N	0.00729	-1.24	0.23946	N	0.996388	B	0.06786	0.001	B	0.01281	0.0	T	0.35126	-0.9801	10	0.02654	T	1	-11.5077	7.6671	0.28437	0.897:0.0:0.103:0.0	.	102	D1MPS4	.	I	382;382;153	ENSP00000355510:V382I;ENSP00000402446:V382I;ENSP00000406656:V153I	ENSP00000355510:V382I	V	+	1	0	WDR64	239953341	0.955000	0.32602	0.788000	0.31933	0.055000	0.15305	2.064000	0.41432	0.758000	0.33059	-0.471000	0.05019	GTC	WDR64	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162843		0.398	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		-	0	16	0	G	NM_144625		241886718	1	tier1	-	no_errors	ENST00000366552	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.985	A	A	241886718	G	A	241886718	3	1	65	1	0	0	0	0	1	0	0	0	17364	1145	40	1	1178	1	WDR64	1	241886718	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	12148075	241886718	7363903	19	17848											
MYT1L	23040	genome.wustl.edu	37	chr2	1890313	1890313	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtcattaaatcttacttGagttcttgggagctggtggc	8	16	11	6	0	3	1	1	1	2	0	3	2	3	2	0	3	2	2	0	3	3	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:1890313G>C	ENST00000399161.2	-	18	3456	c.2709C>G	c.(2707-2709)ctC>ctG	p.L903L	MYT1L_ENST00000428368.2_Silent_p.L901L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	903					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AATCTTACTTGAGTTCTTGGG	0.418																																																	0													51	52	52					2																	1890313		1847	4097	5944	SO:0001819	synonymous_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2709C>G	2.37:g.1890313G>C			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.L903	ENST00000399161.2	37	c.2709		2																																																																																			MYT1L	-	pfam_Znf_C2HC	ENSG00000186487		0.418	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	55	0	G	NM_015025		1890313	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	silent	8.33	66	6	SNP	1.000	C	C	1890313	G	C	1890313	2	2	65	1	0	0	0	0	0	0	0	1	10145	1277	45	5		5	MYT1L	2	1890313	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09		1890313	241309060	20	17849											
ALLC	55821	genome.wustl.edu	37	chr2	3727512	3727512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggagtcatccggggcttcGacgtggacgtttcttacttc	7	12	12	10	4	2	0	1	0	1	0	5	3	3	2	1	4	1	2	1	4	2	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:3727512G>A	ENST00000252505.3	+	5	388	c.226G>A	c.(226-228)Gac>Aac	p.D76N		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	95					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.D76N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCGGGGCTTCGACGTGGACGT	0.547										HNSCC(21;0.051)																																							1	Substitution - Missense(1)	large_intestine(1)											151	159	156					2																	3727512		2110	4215	6325	SO:0001583	missense	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.226G>A	2.37:g.3727512G>A	ENSP00000252505:p.Asp76Asn		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.D76N	ENST00000252505.3	37	c.226	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594759	0.86953	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.77	4.89	0.63831	Allantoicase domain (1);Galactose-binding domain-like (1);	0.089830	0.85682	D	0.000000	T	0.77718	0.4172	M	0.81497	2.545	0.45216	D	0.998227	D	0.76494	0.999	P	0.62885	0.908	T	0.80641	-0.1292	9	0.54805	T	0.06	-16.8727	14.4943	0.67674	0.0:0.0:0.8524:0.1476	.	95	Q8N6M5	ALLC_HUMAN	N	76	.	ENSP00000252505:D76N	D	+	1	0	ALLC	3705387	1.000000	0.71417	0.630000	0.29268	0.707000	0.40811	3.903000	0.56318	1.568000	0.49683	0.655000	0.94253	GAC	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.547	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	-	0	58	0	G			3727512	1	tier1	-	no_errors	ENST00000252505	ensembl	human	known	74_37	missense	39.53	52	34	SNP	0.948	A	A	3727512	G	A	3727512	3	1	65	1	0	0	0	0	1	0	0	0	534	1058	37	1	240	1	ALLC	2	3727512	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	1837199	3727512	239471861	21	17850											
PUM2	23369	genome.wustl.edu	37	chr2	20458106	20458106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacgaatacgagtagccagGgctaatttttgatccagact	12	10	9	10	2	0	2	0	1	0	1	1	4	1	2	3	1	2	2	3	1	4	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:20458106G>A	ENST00000361078.2	-	15	2404	c.2382C>T	c.(2380-2382)gcC>gcT	p.A794A	PUM2_ENST00000319801.5_Silent_p.A715A|PUM2_ENST00000403432.1_Silent_p.A794A|PUM2_ENST00000536417.1_Silent_p.A738A|PUM2_ENST00000338086.5_Silent_p.A794A			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	794	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGTAGCCAGGGCTAATTTTT	0.398																																																	0													97	94	95					2																	20458106		2203	4300	6503	SO:0001819	synonymous_variant	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"pumilio (Drosphila) homolog 2", "pumilio homolog 2 (Drosophila)"			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2382C>T	2.37:g.20458106G>A			B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.A794	ENST00000361078.2	37	c.2382		2																																																																																			PUM2	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	ENSG00000055917		0.398	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		-	0	35	0	G	NM_015317		20458106	-1	tier1	-	no_errors	ENST00000361078	ensembl	human	known	74_37	silent	33.33	46	23	SNP	0.992	A	A	20458106	G	A	20458106	2	1	65	1	0	0	0	0	0	0	0	1	12871	1219	43	3		3	PUM2	2	20458106	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	16730594	20458106	222741267	22	17851											
AAK1	22848	genome.wustl.edu	37	chr2	69752196	69752196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgggtcttttttgcagctgCctcactggctttcactggtt	3	17	10	11	0	3	0	2	0	1	0	3	0	3	0	1	3	3	4	1	3	0	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:69752196C>T	ENST00000409085.4	-	10	1400	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	AAK1_ENST00000406297.3_Missense_Mutation_p.A342T|AAK1_ENST00000409068.1_Missense_Mutation_p.A342T	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	342					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						TTTGCAGCTGCCTCACTGGCT	0.453																																																	0													131	130	130					2																	69752196		1954	4161	6115	SO:0001583	missense	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1024G>A	2.37:g.69752196C>T	ENSP00000386456:p.Ala342Thr		Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A342T	ENST00000409085.4	37	c.1024	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671664	0.88348	.	.	ENSG00000115977	ENST00000409068;ENST00000409085;ENST00000406297	T;T;T	0.78126	-1.15;-1.13;-1.13	5.5	5.5	0.81552	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.72894	2.215	0.80722	D	1	B;P;D	0.60575	0.409;0.729;0.988	B;B;P	0.52343	0.183;0.437;0.696	D	0.83859	0.0267	10	0.48119	T	0.1	-14.7477	18.5685	0.91126	0.0:1.0:0.0:0.0	.	342;342;342	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	T	342	ENSP00000386342:A342T;ENSP00000386456:A342T;ENSP00000385181:A342T	ENSP00000385181:A342T	A	-	1	0	AAK1	69605700	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.639000	0.83342	2.861000	0.98227	0.655000	0.94253	GCA	AAK1	-	superfamily_Kinase-like_dom	ENSG00000115977		0.453	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	-	0	51	0	C	NM_014911		69752196	-1	tier1	-	no_errors	ENST00000409085	ensembl	human	known	74_37	missense	44.05	47	37	SNP	1.000	T	T	69752196	C	T	69752196	3	4	65	1	0	0	0	0	1	0	0	0	16	739	26	3	1913	3	AAK1	2	69752196	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	49294090	69752196	173447177	23	17852											
FBXO41	150726	genome.wustl.edu	37	chr2	73491482	73491482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacgaagcgccagtccCggcagacctcggcagcatgc	8	3	14	16	4	0	1	0	0	0	1	2	2	1	1	4	3	3	3	4	3	1	0	rs374997955		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:73491482C>T	ENST00000521871.1	-	6	2145	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	FBXO41_ENST00000295133.5_Missense_Mutation_p.R638Q|FBXO41_ENST00000520530.2_Missense_Mutation_p.R577Q			Q8TF61	FBX41_HUMAN	F-box protein 41	577										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCGCCAGTCCCGGCAGACCTC	0.632																																																	0								C	GLN/ARG	0,4352		0,0,2176	69	76	74		1730	4	1	2		74	2,8566		0,2,4282	no	missense	FBXO41	NM_001080410.2	43	0,2,6458	TT,TC,CC		0.0233,0.0,0.0155	possibly-damaging	577/876	73491482	2,12918	2176	4284	6460	SO:0001583	missense	0			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"F-boxes /  "other""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1730G>A	2.37:g.73491482C>T	ENSP00000428646:p.Arg577Gln		G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom	p.R638Q	ENST00000521871.1	37	c.1913	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461796	0.63513	0.0	2.33E-4	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.28255	1.62;1.62	5.0	4.04	0.47022	F-box domain, Skp2-like (1);	0.254294	0.35525	N	0.003156	T	0.31857	0.0810	M	0.74546	2.27	0.43714	D	0.996181	D	0.53151	0.958	B	0.41440	0.357	T	0.17137	-1.0379	10	0.52906	T	0.07	.	8.7471	0.34594	0.0:0.8553:0.0:0.1447	.	577	Q8TF61	FBX41_HUMAN	Q	638;577	ENSP00000295133:R638Q;ENSP00000428646:R577Q	ENSP00000295133:R638Q	R	-	2	0	FBXO41	73344990	0.999000	0.42202	1.000000	0.80357	0.839000	0.47603	2.901000	0.48695	2.596000	0.87737	0.561000	0.74099	CGG	FBXO41	-	superfamily_F-box_dom	ENSG00000163013		0.632	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	-	0	21	0	C			73491482	-1	tier1	-	no_errors	ENST00000295133	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.998	T	T	73491482	C	T	73491482	3	4	65	1	0	0	0	0	1	0	0	0	5772	652	23	1	929	1	FBXO41	2	73491482	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	3739286	73491482	169707891	24	17853											
DQX1	165545	genome.wustl.edu	37	chr2	74746273	74746273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggagctctgcggcttcGgtagcagcagtatgaggaga	9	7	17	8	2	1	2	0	1	1	1	2	4	1	3	0	5	4	7	0	5	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:74746273G>A	ENST00000404568.3	-	11	2110	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.R631*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	631						nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTGCGGCTTCGGTAGCAGCAG	0.512																																																	0													86	90	89					2																	74746273		2203	4300	6503	SO:0001587	stop_gained	0			AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"DEAQ box polypeptide 1 (RNA-dependent ATPase)"				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.1891C>T	2.37:g.74746273G>A	ENSP00000384621:p.Arg631*		Q6B017|Q8NAM8	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.R631*	ENST00000404568.3	37	c.1891	CCDS1949.2	2	.	.	.	.	.	.	.	.	.	.	G	34	5.315583	0.95655	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	.	.	.	5.44	1.18	0.20946	.	0.136757	0.31897	N	0.006898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-21.9696	8.3725	0.32423	0.0784:0.0:0.3615:0.5601	.	.	.	.	X	631	.	ENSP00000377523:R631X	R	-	1	2	DQX1	74599781	0.537000	0.26386	0.931000	0.37212	0.558000	0.35554	0.740000	0.26188	0.208000	0.20626	0.655000	0.94253	CGA	DQX1	-	pfam_DUF1605	ENSG00000144045		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DQX1	HGNC	protein_coding	OTTHUMT00000252230.3	-	0	40	0	G	NM_133637		74746273	-1	tier1	-	no_errors	ENST00000393951	ensembl	human	known	74_37	nonsense	9.52	57	6	SNP	0.136	A	A	74746273	G	A	74746273	4	1	65	1	0	0	0	0	0	1	0	0	4765	1124	39	1	270	1	DQX1	2	74746273	Nonsense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	1254791	74746273	168453100	25	17854											
LRRTM1	347730	genome.wustl.edu	37	chr2	80530483	80530483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcccgtggaagaggtcGggcgcgagcgcctgcagctt	6	5	17	13	6	0	1	0	0	0	1	1	3	0	2	2	3	4	3	2	3	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:80530483G>A	ENST00000295057.3	-	2	1118	c.462C>T	c.(460-462)ccC>ccT	p.P154P	CTNNA2_ENST00000466387.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.P154P|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	154					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGAAGAGGTCGGGCGCGAGCG	0.642										HNSCC(69;0.2)																																							0													86	94	91					2																	80530483		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.462C>T	2.37:g.80530483G>A			A8K397|D6W5K1|Q96DN1	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P154	ENST00000295057.3	37	c.462	CCDS1966.1	2																																																																																			LRRTM1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000162951		0.642	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0	35	0	G	NM_178839		80530483	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.973	A	A	80530483	G	A	80530483	2	1	65	1	0	0	0	0	0	0	0	1	9074	1103	39	1		1	LRRTM1	2	80530483	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	5784210	80530483	162668890	26	17855											
CD8A	925	genome.wustl.edu	37	chr2	87017722	87017722	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggttggacagcagcacCtggcacttcagctccactgt	7	9	12	13	1	1	0	1	0	0	0	3	1	2	1	2	3	3	5	2	3	0	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:87017722C>T	ENST00000409511.2	-	5	1162	c.132G>A	c.(130-132)caG>caA	p.Q44Q	CD8A_ENST00000409781.1_Silent_p.Q44Q|CD8A_ENST00000283635.3_Silent_p.Q44Q|CD8A_ENST00000352580.3_Silent_p.Q44Q|CD8A_ENST00000456996.2_Silent_p.Q44Q|CD8A_ENST00000538832.1_Silent_p.Q85Q	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	44	Ig-like V-type.				antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						ACAGCAGCACCTGGCACTTCA	0.682																																																	0													33	36	35					2																	87017722		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1706	protein-coding gene	gene with protein product		186910	"CD8 antigen, alpha polypeptide (p32)", "T-cell surface glycoprotein CD8 alpha chain"	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.132G>A	2.37:g.87017722C>T			B4DT80|D6W5M8|Q13970|Q4ZG17	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q85	ENST00000409511.2	37	c.255	CCDS1992.1	2																																																																																			CD8A	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000153563		0.682	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CD8A	HGNC	protein_coding	OTTHUMT00000330784.3	-	0	9	0	C	NM_001768		87017722	-1	tier1	-	no_errors	ENST00000538832	ensembl	human	known	74_37	silent	47.37	10	9	SNP	0.671	T	T	87017722	C	T	87017722	2	4	65	1	0	0	0	0	0	0	0	1	3051	680	24	3		3	CD8A	2	87017722	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	6487239	87017722	156181651	27	17856											
SLC35F5	80255	genome.wustl.edu	37	chr2	114512764	114512764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtaagttcagaggaagcaAcccatatcacatcaacaagc	18	6	7	10	0	3	1	3	0	0	1	3	2	3	2	1	1	4	3	1	1	7	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:114512764A>G	ENST00000245680.2	-	3	664	c.251T>C	c.(250-252)gTt>gCt	p.V84A	SLC35F5_ENST00000409342.1_Missense_Mutation_p.V78A	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	84					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGAGGAAGCAACCCATATCAC	0.428																																																	0													83	79	81					2																	114512764		2203	4300	6503	SO:0001583	missense	0			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"Solute carriers"	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.251T>C	2.37:g.114512764A>G	ENSP00000245680:p.Val84Ala		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	pfam_DMT	p.V84A	ENST00000245680.2	37	c.251	CCDS2119.1	2	.	.	.	.	.	.	.	.	.	.	A	33	5.269849	0.95429	.	.	ENSG00000115084	ENST00000245680;ENST00000409106;ENST00000409342	T;T	0.56611	0.45;0.45	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.65320	2	0.58432	D	0.999998	D;D;D	0.89917	0.997;1.0;0.984	D;D;D	0.76575	0.978;0.988;0.956	T	0.71745	-0.4500	10	0.66056	D	0.02	-15.5064	13.9127	0.63878	1.0:0.0:0.0:0.0	.	84;78;84	B2RDY0;B8ZZV6;Q8WV83	.;.;S35F5_HUMAN	A	84;78;78	ENSP00000245680:V84A;ENSP00000386754:V78A	ENSP00000245680:V84A	V	-	2	0	SLC35F5	114229234	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.141000	0.89618	2.209000	0.71365	0.533000	0.62120	GTT	SLC35F5	-	NULL	ENSG00000115084		0.428	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	HGNC	protein_coding	OTTHUMT00000254150.1		0	15	0	A	NM_025181		114512764	-1			no_errors	ENST00000245680	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.998	G	G	114512764	A	G	114512764	3	3	65	1	0	0	0	0	1	0	0	0	14637	43	2	4	1372	4	SLC35F5	2	114512764	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	27495042	114512764	128686609	28	17857											
LRP1B	53353	genome.wustl.edu	37	chr2	141130629	141130629	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtcttcatggccatcAcatttccattttgctggtat	7	17	7	10	0	3	0	2	0	1	0	4	0	4	0	2	2	2	3	2	2	1	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:141130629A>G	ENST00000389484.3	-	69	11687	c.10716T>C	c.(10714-10716)tgT>tgC	p.C3572C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3572	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGGCCATCACATTTCCATT	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													199	191	194					2																	141130629		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10716T>C	2.37:g.141130629A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C3572	ENST00000389484.3	37	c.10716	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	40	0	A	NM_018557		141130629	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	20.41	39	10	SNP	1.000	G	G	141130629	A	G	141130629	2	3	65	1	0	0	0	0	0	0	0	1	8990	157	6	4		4	LRP1B	2	141130629	Silent	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	26617865	141130629	102068744	29	17858											
TBR1	10716	genome.wustl.edu	37	chr2	162275468	162275468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggaagtgaacgaggaCggcacggaggacactagcca	12	4	17	8	3	0	1	0	1	0	0	0	6	0	5	1	6	2	1	1	6	3	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:162275468C>T	ENST00000389554.3	+	4	1352	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D	TBR1_ENST00000410035.1_Silent_p.D58D	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	345					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TGAACGAGGACGGCACGGAGG	0.612																																																	0													96	95	95					2																	162275468		2203	4300	6503	SO:0001819	synonymous_variant	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"T-boxes"	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1035C>T	2.37:g.162275468C>T			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D345	ENST00000389554.3	37	c.1035	CCDS33310.1	2																																																																																			TBR1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000136535		0.612	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	-	0	40	0	C	NM_006593		162275468	1	tier1	-	no_errors	ENST00000389554	ensembl	human	known	74_37	silent	11.86	52	7	SNP	0.973	T	T	162275468	C	T	162275468	2	4	65	1	0	0	0	0	0	0	0	1	15694	535	19	1		1	TBR1	2	162275468	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	21144839	162275468	80923905	30	17859											
XIRP2	129446	genome.wustl.edu	37	chr2	168105196	168105196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacccaaacttcccaagCatataaaagataataagaac	21	6	3	11	0	0	2	0	0	0	2	1	2	1	2	3	0	4	1	3	0	9	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:168105196C>T	ENST00000409195.1	+	9	7383	c.7294C>T	c.(7294-7296)Cat>Tat	p.H2432Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2210Y|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2432Y|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2257					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTCCCAAGCATATAAAAGA	0.403																																																	0													83	84	84					2																	168105196		1823	4082	5905	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7294C>T	2.37:g.168105196C>T	ENSP00000386840:p.His2432Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.H2432Y	ENST00000409195.1	37	c.7294	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	9.106	1.005291	0.19199	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02525	4.26;4.26;4.26	5.67	2.77	0.32553	.	1.627960	0.03329	N	0.193055	T	0.02533	0.0077	N	0.22421	0.69	0.09310	N	1	B;P;P	0.34977	0.347;0.478;0.478	B;B;B	0.28709	0.043;0.093;0.093	T	0.40251	-0.9573	10	0.56958	D	0.05	1.6233	3.5961	0.08006	0.2811:0.3831:0.2587:0.0771	.	2257;2257;2210	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2432;2432;2210	ENSP00000386840:H2432Y;ENSP00000295237:H2432Y;ENSP00000387255:H2210Y	ENSP00000295237:H2432Y	H	+	1	0	XIRP2	167813442	0.000000	0.05858	0.005000	0.12908	0.806000	0.45545	-0.785000	0.04628	0.278000	0.22164	0.655000	0.94253	CAT	XIRP2	-	NULL	ENSG00000163092		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	34	0	C	NM_152381		168105196	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.001	T	T	168105196	C	T	168105196	3	4	65	1	0	0	0	0	1	0	0	0	17479	710	25	3	7324	3	XIRP2	2	168105196	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	5829728	168105196	75094177	31	17860											
TTN	7273	genome.wustl.edu	37	chr2	179489321	179489321	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacaatttcatacttctTgcttttgaggatttctgtcc	9	17	6	9	0	3	1	1	1	2	0	4	2	4	2	1	1	4	2	1	1	3	7			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:179489321T>A	ENST00000591111.1	-	192	39987	c.39763A>T	c.(39763-39765)Aag>Tag	p.K13255*	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.K12328*|TTN_ENST00000589042.1_Nonsense_Mutation_p.K14896*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.K6023*|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.K5956*|TTN_ENST00000460472.2_Nonsense_Mutation_p.K5831*|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13255	Ig-like 88.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTTCTTGCTTTTGAGG	0.423																																																	0													107	104	105					2																	179489321		1877	4105	5982	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39763A>T	2.37:g.179489321T>A	ENSP00000465570:p.Lys13255*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K12328*	ENST00000591111.1	37	c.36982		2	.	.	.	.	.	.	.	.	.	.	T	58	31.995227	0.99979	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	.	.	.	X	12328;5831;6023;5956;5831	.	ENSP00000340554:K6023X	K	-	1	0	TTN	179197566	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.323000	0.78572	0.528000	0.53228	AAG	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	32	0	T	NM_133378		179489321	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	12.73	48	7	SNP	1.000	A	A	179489321	T	A	179489321	4	1	65	1	0	0	0	0	0	1	0	0	16784	1821	63	5	63491	5	TTN	2	179489321	Nonsense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	11384125	179489321	63710052	32	17861											
TTN	7273	genome.wustl.edu	37	chr2	179547580	179547580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgttgtactgaaacagCttcttcttctagggtataag	9	15	8	9	1	3	1	0	1	3	0	4	1	4	1	1	1	3	4	1	1	5	9			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:179547580C>G	ENST00000591111.1	-	133	32211	c.31987G>C	c.(31987-31989)Gct>Cct	p.A10663P	TTN_ENST00000342992.6_Missense_Mutation_p.A9736P|TTN_ENST00000589042.1_Missense_Mutation_p.A10980P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGAAACAGCTTCTTCTTCT	0.328																																																	0													189	159	169					2																	179547580		1832	4080	5912	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31987G>C	2.37:g.179547580C>G	ENSP00000465570:p.Ala10663Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A9736P	ENST00000591111.1	37	c.29206		2	.	.	.	.	.	.	.	.	.	.	C	2.653	-0.281529	0.05642	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.65549	-0.01;-0.16	5.08	-1.72	0.08107	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.36496	0.0969	N	0.08118	0	0.24460	N	0.994441	B;B	0.25105	0.021;0.118	B;B	0.23150	0.012;0.044	T	0.22871	-1.0204	9	0.87932	D	0	.	5.9085	0.19014	0.1241:0.3807:0.0:0.4952	.	10663;10399	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	P	9736;594	ENSP00000343764:A9736P;ENSP00000401501:A594P	ENSP00000343764:A9736P	A	-	1	0	TTN	179255825	0.052000	0.20516	0.175000	0.22980	0.232000	0.25224	0.371000	0.20450	-0.482000	0.06782	-0.768000	0.03414	GCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.328	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	78	0	C	NM_133378		179547580	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.00	73	27	SNP	0.094	G	G	179547580	C	G	179547580	3	3	65	1	0	0	0	0	1	0	0	0	16784	797	28	5	71503	5	TTN	2	179547580	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	58259	179547580	63651793	33	17862											
TTN	7273	genome.wustl.edu	37	chr2	179637875	179637875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcatattttctcccgCgtaaaatgtgtattttcctt	9	18	6	8	2	2	1	1	0	1	1	4	1	3	1	2	0	0	2	2	0	4	8	rs375286376		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:179637875C>T	ENST00000591111.1	-	33	8040	c.7816G>A	c.(7816-7818)Gcg>Acg	p.A2606T	TTN_ENST00000342992.6_Missense_Mutation_p.A2606T|TTN_ENST00000360870.5_Missense_Mutation_p.A2606T|TTN_ENST00000589042.1_Missense_Mutation_p.A2606T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2560T|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2560T|TTN_ENST00000460472.2_Missense_Mutation_p.A2560T|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12929					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTCCCGCGTAAAATGTG	0.294																																																	0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4404		0,0,2202	51	54	53		7678,7816,7816,7678,7678	5.6	1	2		53	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	58,58,58,58,58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2560/26927,2606/33424,2606/5605,2560/27052,2560/27119	179637875	1,13003	2202	4300	6502	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7816G>A	2.37:g.179637875C>T	ENSP00000465570:p.Ala2606Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A2606T	ENST00000591111.1	37	c.7816		2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440570	0.43326	0.0	1.16E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.59	5.59	0.84812	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88883	0.6558	M	0.77486	2.375	0.32584	N	0.528148	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.95;0.95;0.95;0.98;0.99	D	0.90629	0.4565	9	0.87932	D	0	.	19.6016	0.95566	0.0:1.0:0.0:0.0	.	2560;2560;2560;2606;2606	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2606;2560;2560;2560;2560;2606	ENSP00000343764:A2606T;ENSP00000434586:A2560T;ENSP00000340554:A2560T;ENSP00000352154:A2560T;ENSP00000354117:A2606T	ENSP00000340554:A2560T	A	-	1	0	TTN	179346120	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.056000	0.71111	2.642000	0.89623	0.650000	0.86243	GCG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.294	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	35	0	C	NM_133378		179637875	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	52.94	16	18	SNP	1.000	T	T	179637875	C	T	179637875	3	4	65	1	0	0	0	0	1	0	0	0	16784	768	27	1	103492	1	TTN	2	179637875	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	90295	179637875	63561498	34	17863											
INPP1	3628	genome.wustl.edu	37	chr2	191236040	191236040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggtgggccaacaagggagGactcattgcatacagatcca	12	7	12	10	1	1	1	1	0	0	1	3	3	2	3	2	4	3	1	2	4	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:191236040G>A	ENST00000322522.4	+	6	1568	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	INPP1_ENST00000541441.1_Missense_Mutation_p.G371E|INPP1_ENST00000392329.2_Missense_Mutation_p.G371E	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	371					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			AACAAGGGAGGACTCATTGCA	0.527																																					Melanoma(130;184 1743 2185 19805 38428)												0													68	66	67					2																	191236040		2203	4300	6503	SO:0001583	missense	0				CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.1112G>A	2.37:g.191236040G>A	ENSP00000325423:p.Gly371Glu			Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.G371E	ENST00000322522.4	37	c.1112	CCDS2305.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961893	0.92791	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	T;T;T	0.30981	1.51;1.51;1.51	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71170	-0.4671	10	0.87932	D	0	-19.8006	16.325	0.82975	0.0:0.0:1.0:0.0	.	371	P49441	INPP_HUMAN	E	371	ENSP00000376142:G371E;ENSP00000325423:G371E;ENSP00000440650:G371E	ENSP00000325423:G371E	G	+	2	0	INPP1	190944285	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	8.418000	0.90250	2.720000	0.93068	0.555000	0.69702	GGA	INPP1	-	pfam_Inositol_monophosphatase	ENSG00000151689		0.527	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP1	HGNC	protein_coding	OTTHUMT00000255932.2		0	20	0	G			191236040	1			no_errors	ENST00000322522	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	191236040	G	A	191236040	3	1	65	1	0	0	0	0	1	0	0	0	7778	1174	41	3	1130	3	INPP1	2	191236040	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	11598165	191236040	51963333	35	17864											
INO80D	54891	genome.wustl.edu	37	chr2	206911274	206911274	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggatggaccatgcaacctGgtagggcgaggcctgctctg	7	7	15	12	2	1	0	0	0	1	0	1	3	1	2	4	5	3	3	4	5	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:206911274G>A	ENST00000403263.1	-	5	1431	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	343					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CATGCAACCTGGTAGGGCGAG	0.463																																																	0													81	80	81					2																	206911274		1892	4105	5997	SO:0001587	stop_gained	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1027C>T	2.37:g.206911274G>A	ENSP00000384198:p.Gln343*		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Nonsense_Mutation	SNP	NULL	p.Q343*	ENST00000403263.1	37	c.1027	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	41	8.666826	0.98908	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	.	.	.	5.54	5.54	0.83059	.	0.054387	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	17.6519	0.88167	0.0:0.0:1.0:0.0	.	.	.	.	X	343;343;238	.	ENSP00000233270:Q343X	Q	-	1	0	INO80D	206619519	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.525000	0.81892	2.619000	0.88677	0.655000	0.94253	CAG	INO80D	-	NULL	ENSG00000114933		0.463	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	-	0	28	0	G	NM_017759		206911274	-1	tier1	-	no_errors	ENST00000403263	ensembl	human	known	74_37	nonsense	33.33	14	7	SNP	1.000	A	A	206911274	G	A	206911274	4	1	65	1	0	0	0	0	0	1	0	0	7776	1357	47	3	2084	3	INO80D	2	206911274	Nonsense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	15675234	206911274	36288099	36	17865											
VWC2L	402117	genome.wustl.edu	37	chr2	215440493	215440493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcacaacggggactggtgGaagcctgctcagtgttcgaa	9	9	14	9	2	2	0	2	0	0	0	3	3	2	2	1	4	3	2	1	4	3	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:215440493G>T	ENST00000312504.5	+	4	1420	c.618G>T	c.(616-618)tgG>tgT	p.W206C	AC107218.3_ENST00000437883.1_RNA|VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	206					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GGGACTGGTGGAAGCCTGCTC	0.478																																																	0													229	224	226					2																	215440493		2031	4207	6238	SO:0001583	missense	0			AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"von Willebrand factor C domain-containing protein 2-like"				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.618G>T	2.37:g.215440493G>T	ENSP00000308976:p.Trp206Cys		A6NC69|B2RUW7|B7X8X1	Missense_Mutation	SNP	smart_VWF_C,pfscan_VWF_C	p.W206C	ENST00000312504.5	37	c.618	CCDS46509.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002228	0.74932	.	.	ENSG00000174453	ENST00000312504	T	0.43294	0.95	5.58	5.58	0.84498	.	.	.	.	.	T	0.50497	0.1619	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.48768	-0.9006	9	0.38643	T	0.18	-2.2715	19.5796	0.95461	0.0:0.0:1.0:0.0	.	206	B2RUY7	VWC2L_HUMAN	C	206	ENSP00000308976:W206C	ENSP00000308976:W206C	W	+	3	0	VWC2L	215148738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.624000	0.88883	0.655000	0.94253	TGG	VWC2L	-	NULL	ENSG00000174453		0.478	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2L	HGNC	protein_coding	OTTHUMT00000337175.1	-	0	61	0	G	NM_001080500		215440493	1	tier1	-	no_errors	ENST00000312504	ensembl	human	known	74_37	missense	10.53	68	8	SNP	1.000	T	T	215440493	G	T	215440493	3	4	65	1	0	0	0	0	1	0	0	0	17293	1183	41	3	628	3	VWC2L	2	215440493	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	8529219	215440493	27758880	37	17866											
ABCA12	26154	genome.wustl.edu	37	chr2	215823015	215823015	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcaccatgtcataaatgaAgtttgttacccagtagcatg	13	12	7	9	0	2	1	2	1	0	0	2	1	2	1	2	0	2	4	2	0	5	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:215823015A>C	ENST00000272895.7	-	41	6322	c.6103T>G	c.(6103-6105)Ttc>Gtc	p.F2035V	ABCA12_ENST00000389661.4_Missense_Mutation_p.F1717V|AC072062.1_ENST00000607412.1_RNA|AC072062.1_ENST00000420134.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2035					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAAATGAAGTTTGTTACC	0.393																																					Ovarian(66;664 1488 5121 34295)												0													207	183	191					2																	215823015		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6103T>G	2.37:g.215823015A>C	ENSP00000272895:p.Phe2035Val		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2035V	ENST00000272895.7	37	c.6103	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088475	0.76756	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87966	-2.32;-2.32	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	D	0.94029	0.8087	M	0.88512	2.96	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.65874	0.934;0.939	D	0.95066	0.8200	10	0.87932	D	0	.	15.9507	0.79835	1.0:0.0:0.0:0.0	.	2035;1717	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	V	2035;1717	ENSP00000272895:F2035V;ENSP00000374312:F1717V	ENSP00000272895:F2035V	F	-	1	0	ABCA12	215531260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.232000	0.73038	0.528000	0.53228	TTC	ABCA12	-	NULL	ENSG00000144452		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	70	0	A	NM_173076		215823015	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	23.81	64	20	SNP	1.000	C	C	215823015	A	C	215823015	3	2	65	1	0	0	0	0	1	0	0	0	30	72	3	4	1736	4	ABCA12	2	215823015	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	382522	215823015	27376358	38	17867											
ABCA12	26154	genome.wustl.edu	37	chr2	215872568	215872568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtctcagagttacattGgacttaatgacaaagaaaca	16	10	8	7	0	1	3	1	1	1	2	2	4	1	4	0	1	3	2	0	1	4	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:215872568G>A	ENST00000272895.7	-	19	2694	c.2475C>T	c.(2473-2475)tcC>tcT	p.S825S	ABCA12_ENST00000389661.4_Silent_p.S507S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	825					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTTACATTGGACTTAATGA	0.343																																					Ovarian(66;664 1488 5121 34295)												0													74	69	70					2																	215872568		2203	4300	6503	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2475C>T	2.37:g.215872568G>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S825	ENST00000272895.7	37	c.2475	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	44	0	G	NM_173076		215872568	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	silent	24.56	43	14	SNP	0.995	A	A	215872568	G	A	215872568	2	1	65	1	0	0	0	0	0	0	0	1	30	1335	47	3		3	ABCA12	2	215872568	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	49553	215872568	27326805	39	17868											
FARSB	10056	genome.wustl.edu	37	chr2	223507595	223507595	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagacctgaagtcctcGaaccaatccttccagacaca	13	9	6	13	1	0	4	0	2	0	2	4	5	3	4	5	0	1	0	5	0	4	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:223507595G>T	ENST00000281828.6	-	3	507	c.244C>A	c.(244-246)Cga>Aga	p.R82R	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	82					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)	p.R82*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TGAAGTCCTCGAACCAATCCT	0.408																																																	1	Substitution - Nonsense(1)	endometrium(1)											106	100	102					2																	223507595		2203	4300	6503	SO:0001819	synonymous_variant	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.244C>A	2.37:g.223507595G>T			B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.R82	ENST00000281828.6	37	c.244	CCDS2454.1	2																																																																																			FARSB	-	superfamily_DNA-bd_dom_put,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.408	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	-	0	27	0	G	NM_005687		223507595	-1	tier1	-	no_errors	ENST00000281828	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T	T	223507595	G	T	223507595	2	4	65	1	0	0	0	0	0	0	0	1	5702	1066	37	2		2	FARSB	2	223507595	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	7635027	223507595	19691778	40	17869											
AGAP1	116987	genome.wustl.edu	37	chr2	236945291	236945291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgtatgaggagcgggacGcctgggtccaagccatcgag	9	5	16	11	5	0	1	0	1	0	0	2	5	1	3	3	3	2	1	3	3	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr2:236945291G>A	ENST00000304032.8	+	14	2312	c.1732G>A	c.(1732-1734)Gcc>Acc	p.A578T	RNU7-127P_ENST00000458845.1_RNA|AGAP1_ENST00000428334.2_Missense_Mutation_p.A417T|AGAP1_ENST00000409538.1_Missense_Mutation_p.A790T|AGAP1_ENST00000336665.5_Missense_Mutation_p.A525T	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GGAGCGGGACGCCTGGGTCCA	0.542																																																	0													97	102	100					2																	236945291		2203	4300	6503	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1732G>A	2.37:g.236945291G>A	ENSP00000307634:p.Ala578Thr		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.A578T	ENST00000304032.8	37	c.1732	CCDS33408.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.944605|3.944605	0.73672|0.73672	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025;ENST00000418654	T;T;T;T|.	0.75821|.	-0.97;-0.97;-0.97;-0.97|.	4.75|4.75	4.75|4.75	0.60458|0.60458	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65709|0.65709	0.2717|0.2717	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	0.99;1.0|.	P;D|.	0.87578|.	0.655;0.998|.	T|T	0.62685|0.62685	-0.6802|-0.6802	10|5	0.22706|.	T|.	0.39|.	.|.	18.1563|18.1563	0.89692|0.89692	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	525;578|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	T|H	578;525;790;417|236;130	ENSP00000307634:A578T;ENSP00000338378:A525T;ENSP00000386897:A790T;ENSP00000411824:A417T|.	ENSP00000307634:A578T|.	A|R	+|+	1|2	0|0	AGAP1|AGAP1	236610030|236610030	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.977000|0.977000	0.68977|0.68977	5.521000|5.521000	0.67086|0.67086	2.355000|2.355000	0.79922|0.79922	0.655000|0.655000	0.94253|0.94253	GCC|CGC	AGAP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000157985		0.542	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	-	0	95	0	G	NM_014914		236945291	1	tier1	-	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	27.84	70	27	SNP	0.997	A	A	236945291	G	A	236945291	3	1	65	1	0	0	0	0	1	0	0	0	366	1087	38	1	1786	1	AGAP1	2	236945291	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	13437696	236945291	6254082	41	17870											
GOLGA4	2803	genome.wustl.edu	37	chr3	37379178	37379178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctagcacagaagacgActttaatcagtgattcgaaa	16	8	8	9	2	1	3	1	1	0	2	2	5	1	3	0	0	2	2	0	0	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:37379178A>T	ENST00000361924.2	+	19	6723	c.6349A>T	c.(6349-6351)Act>Tct	p.T2117S	GOLGA4_ENST00000356847.4_Missense_Mutation_p.T2132S|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2117					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGAAGACGACTTTAATCAG	0.368																																																	0													100	93	96					3																	37379178		2203	4300	6503	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6349A>T	3.37:g.37379178A>T	ENSP00000354486:p.Thr2117Ser		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.T2117S	ENST00000361924.2	37	c.6349	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	A	13.99	2.402381	0.42613	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.26223	1.75;1.81;1.78	5.66	4.49	0.54785	.	0.209202	0.24154	N	0.041048	T	0.15998	0.0385	N	0.20986	0.625	0.09310	N	0.999996	B;B;B	0.31193	0.312;0.312;0.156	B;B;B	0.29524	0.103;0.103;0.043	T	0.16897	-1.0387	10	0.25106	T	0.35	.	10.0579	0.42257	0.7313:0.0:0.0:0.2687	.	2117;2132;2117	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	S	2117;2132;1988	ENSP00000354486:T2117S;ENSP00000349305:T2132S;ENSP00000405842:T1988S	ENSP00000349305:T2132S	T	+	1	0	GOLGA4	37354182	0.964000	0.33143	0.005000	0.12908	0.879000	0.50718	3.073000	0.50057	1.055000	0.40461	0.533000	0.62120	ACT	GOLGA4	-	NULL	ENSG00000144674		0.368	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0	40	0	A	NM_002078		37379178	1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	21.15	41	11	SNP	0.201	T	T	37379178	A	T	37379178	3	4	65	1	0	0	0	0	1	0	0	0	6581	275	10	5	6493	5	GOLGA4	3	37379178	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09		37379178	160643252	42	17871											
ITGA9	3680	genome.wustl.edu	37	chr3	37845392	37845392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgccatcagtttgttggtgGgaatcctcatcttcctgctg	5	15	10	11	1	3	0	2	0	1	0	6	1	5	1	3	2	1	3	3	2	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:37845392G>C	ENST00000264741.5	+	27	3224	c.2968G>C	c.(2968-2970)Gga>Cga	p.G990R	AC093415.2_ENST00000445429.1_RNA|AC093415.2_ENST00000438136.1_RNA|AC093415.2_ENST00000420870.1_RNA|AC093415.2_ENST00000450990.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	990					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTGTTGGTGGGAATCCTCAT	0.597																																																	0													217	160	179					3																	37845392		2203	4300	6503	SO:0001583	missense	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2968G>C	3.37:g.37845392G>C	ENSP00000264741:p.Gly990Arg		Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G990R	ENST00000264741.5	37	c.2968	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.216457	0.95104	.	.	ENSG00000144668	ENST00000264741	T	0.24350	1.86	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.61553	0.2356	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70908	-0.4744	10	0.87932	D	0	.	17.9508	0.89052	0.0:0.0:1.0:0.0	.	990	Q13797	ITA9_HUMAN	R	990	ENSP00000264741:G990R	ENSP00000264741:G990R	G	+	1	0	ITGA9	37820396	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.597000	0.98273	2.546000	0.85860	0.563000	0.77884	GGA	ITGA9	-	prints_Integrin_alpha	ENSG00000144668		0.597	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	-	0	60	0	G	NM_002207		37845392	1	tier1	-	no_errors	ENST00000264741	ensembl	human	known	74_37	missense	51.06	46	48	SNP	1.000	C	C	37845392	G	C	37845392	3	2	65	1	0	0	0	0	1	0	0	0	7910	1233	43	5	3074	5	ITGA9	3	37845392	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	466214	37845392	160177038	43	17872											
DLEC1	9940	genome.wustl.edu	37	chr3	38101292	38101292	+	Missense_Mutation	SNP	T	T	C																															tacggaaacatcatttgatcTccccagaagattactacacc																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:38101292T>C	ENST00000308059.6	+	3	643	c.622T>C	c.(622-624)Tcc>Ccc	p.S208P	DLEC1_ENST00000452631.2_Missense_Mutation_p.S208P|DLEC1_ENST00000346219.3_Missense_Mutation_p.S208P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCATTTGATCTCCCCAGAAGA	0.478																																																	0													212	205	207					3																	38101292		1925	4140	6065	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.622T>C	3.37:g.38101292T>C	ENSP00000308597:p.Ser208Pro			Missense_Mutation	SNP	superfamily_PapD-like	p.S208P	ENST00000308059.6	37	c.622	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	T	16.53	3.150227	0.57151	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.06528	3.33;3.29;3.55	4.99	3.82	0.43975	.	0.405610	0.30365	N	0.009784	T	0.11153	0.0272	L	0.46157	1.445	0.33215	D	0.553927	D;D;D	0.61080	0.989;0.98;0.989	P;P;P	0.53649	0.731;0.731;0.731	T	0.12734	-1.0536	10	0.44086	T	0.13	-13.807	8.7971	0.34885	0.0:0.0:0.1904:0.8096	.	208;208;208	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	P	208	ENSP00000308597:S208P;ENSP00000315914:S208P;ENSP00000410427:S208P	ENSP00000308597:S208P	S	+	1	0	DLEC1	38076296	0.997000	0.39634	0.993000	0.49108	0.724000	0.41520	1.094000	0.30951	0.904000	0.36572	-0.313000	0.08912	TCC	DLEC1	-	NULL	ENSG00000008226		0.478	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0	65	0	T	NM_007337		38101292	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	43.82	50	39	SNP	0.997	C	C	38101292	T	C	38101292	3	2	65	1	0	0	0	0	1	0	0	0	4566	1551	54	4	632	4	DLEC1	3	38101292	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	255900	38101292	159921138	44	17873	72	2									
DLEC1	9940	genome.wustl.edu	37	chr3	38101297	38101297	+	Silent	SNP	A	A	G																															aaacatcatttgatctccccAgaagattactacaccgatac																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:38101297A>G	ENST00000308059.6	+	3	648	c.627A>G	c.(625-627)ccA>ccG	p.P209P	DLEC1_ENST00000452631.2_Silent_p.P209P|DLEC1_ENST00000346219.3_Silent_p.P209P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGATCTCCCCAGAAGATTACT	0.468																																																	0													208	202	204					3																	38101297		1922	4142	6064	SO:0001819	synonymous_variant	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.627A>G	3.37:g.38101297A>G				Silent	SNP	superfamily_PapD-like	p.P209	ENST00000308059.6	37	c.627	CCDS2672.2	3																																																																																			DLEC1	-	NULL	ENSG00000008226		0.468	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0	65	0	A	NM_007337		38101297	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	silent	44.32	49	39	SNP	0.304	G	G	38101297	A	G	38101297	2	3	65	1	0	0	0	0	0	0	0	1	4566	175	7	4		4	DLEC1	3	38101297	Silent	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	5	38101297	159921133	45	17874	72	2									
SCN5A	6331	genome.wustl.edu	37	chr3	38645355	38645355	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgtggccaggagccgaggTtccgggactgggctgtccct	4	7	18	12	3	0	0	0	0	0	0	2	3	2	2	4	6	1	2	4	6	0	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:38645355T>G	ENST00000333535.4	-	12	1887	c.1738A>C	c.(1738-1740)Acc>Ccc	p.T580P	SCN5A_ENST00000443581.1_Missense_Mutation_p.T580P|SCN5A_ENST00000425664.1_Missense_Mutation_p.T580P|SCN5A_ENST00000414099.2_Missense_Mutation_p.T580P|SCN5A_ENST00000449557.2_Missense_Mutation_p.T580P|SCN5A_ENST00000455624.2_Missense_Mutation_p.T580P|SCN5A_ENST00000423572.2_Missense_Mutation_p.T580P|SCN5A_ENST00000450102.2_Missense_Mutation_p.T580P|SCN5A_ENST00000413689.1_Missense_Mutation_p.T580P|SCN5A_ENST00000451551.2_Missense_Mutation_p.T580P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	580					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGCCGAGGTTCCGGGACTG	0.647																																																	0													71	77	75					3																	38645355		2019	4182	6201	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1738A>C	3.37:g.38645355T>G	ENSP00000328968:p.Thr580Pro		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.T580P	ENST00000333535.4	37	c.1738	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	3.152	-0.174091	0.06421	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	3.46	-0.489	0.12052	Domain of unknown function DUF3451 (1);	0.747484	0.12692	N	0.447085	T	0.78149	0.4238	N	0.10874	0.06	0.09310	N	1	P;B;B;B;B;B;B	0.37176	0.586;0.117;0.126;0.153;0.153;0.0;0.126	B;B;B;B;B;B;B	0.39094	0.163;0.193;0.191;0.29;0.14;0.005;0.086	T	0.69684	-0.5079	10	0.48119	T	0.1	.	3.6776	0.08298	0.3159:0.3587:0.0:0.3253	.	580;580;580;580;580;580;580	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	P	580	ENSP00000398962:T580P;ENSP00000398266:T580P;ENSP00000410257:T580P;ENSP00000388797:T580P;ENSP00000397915:T580P;ENSP00000416634:T580P;ENSP00000328968:T580P;ENSP00000399524:T580P;ENSP00000403355:T580P;ENSP00000413996:T580P	ENSP00000328968:T580P	T	-	1	0	SCN5A	38620359	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.584000	0.05800	0.017000	0.15025	0.459000	0.35465	ACC	SCN5A	-	pfam_DUF3451	ENSG00000183873		0.647	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0	39	0	T	NM_198056		38645355	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.012	G	G	38645355	T	G	38645355	3	3	65	1	0	0	0	0	1	0	0	0	13967	1725	60	4	4380	4	SCN5A	3	38645355	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	544058	38645355	159377075	46	17875											
QRICH1	54870	genome.wustl.edu	37	chr3	49094421	49094421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccgtattctggtacgtGcctgccacagcctgcacagc	7	9	11	14	2	1	1	0	1	1	0	1	1	1	1	4	1	7	3	4	1	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:49094421G>T	ENST00000395443.2	-	3	1684	c.1212C>A	c.(1210-1212)ggC>ggA	p.G404G	QRICH1_ENST00000424300.1_Silent_p.G404G|QRICH1_ENST00000357496.2_Silent_p.G404G|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	404	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCTGGTACGTGCCTGCCACAG	0.552																																																	0													101	90	94					3																	49094421		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1212C>A	3.37:g.49094421G>T			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	pfam_DUF3504,superfamily_DEATH-like_dom	p.G404	ENST00000395443.2	37	c.1212	CCDS2787.1	3																																																																																			QRICH1	-	NULL	ENSG00000198218		0.552	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1		0	35	0	G	NM_017730		49094421	-1			no_errors	ENST00000357496	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	49094421	G	T	49094421	2	4	65	1	0	0	0	0	0	0	0	1	12924	1306	46	3		3	QRICH1	3	49094421	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	10449066	49094421	148928009	47	17876											
LAMB2	3913	genome.wustl.edu	37	chr3	49161216	49161216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggctgaggtgttgcGggcacctacgatgccctgca	6	7	17	11	3	0	1	0	1	0	0	0	3	0	2	2	5	4	4	2	5	1	2	rs372230106		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:49161216G>A	ENST00000418109.1	-	25	3906	c.3742C>T	c.(3742-3744)Cgc>Tgc	p.R1248C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1248C|USP19_ENST00000434032.2_5'Flank|USP19_ENST00000398888.2_5'Flank|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000453664.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1248	Domain II.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTGTTGCGGGCACCTACG	0.627																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	34	36	35		3742	5.8	1	3		35	0,8594		0,0,4297	no	missense	LAMB2	NM_002292.3	180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1248/1799	49161216	1,12999	2203	4297	6500	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.3742C>T	3.37:g.49161216G>A	ENSP00000388325:p.Arg1248Cys		Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R1248C	ENST00000418109.1	37	c.3742	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467721	0.84533	2.27E-4	0.0	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	T;T	0.35048	1.33;1.33	5.84	5.84	0.93424	.	0.106915	0.64402	D	0.000003	T	0.60766	0.2294	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.58183	-0.7681	10	0.54805	T	0.06	.	20.1278	0.97990	0.0:0.0:1.0:0.0	.	1248	P55268	LAMB2_HUMAN	C	1248;1248;15	ENSP00000388325:R1248C;ENSP00000307156:R1248C	ENSP00000307156:R1248C	R	-	1	0	LAMB2	49136220	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.501000	0.66950	2.768000	0.95171	0.561000	0.74099	CGC	LAMB2	-	NULL	ENSG00000172037		0.627	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	-	0	39	0	G	NM_002292		49161216	-1	tier1	-	no_errors	ENST00000305544	ensembl	human	known	74_37	missense	14.58	41	7	SNP	1.000	A	A	49161216	G	A	49161216	3	1	65	1	0	0	0	0	1	0	0	0	8639	1116	39	1	1690	1	LAMB2	3	49161216	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	66795	49161216	148861214	48	17877											
CACNA1D	776	genome.wustl.edu	37	chr3	53766990	53766990	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcttagcaagaccaacccGtaaatactccccttctagtc	12	11	4	14	1	2	1	0	0	2	1	4	1	3	1	4	0	3	2	4	0	7	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:53766990G>A	ENST00000350061.5	+	19	3132		c.e19+1		CACNA1D_ENST00000288139.4_Splice_Site|CACNA1D_ENST00000422281.2_Splice_Site	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGACCAACCCGTAAATACTCC	0.557																																																	0													71	68	69					3																	53766990		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.2621+1G>A	3.37:g.53766990G>A			B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Splice_Site	SNP	-	e20+1	ENST00000350061.5	37	c.2681+1	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947189	0.92593	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1D	53742030	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.694000	0.98686	2.663000	0.90544	0.655000	0.94253	.	CACNA1D	-	-	ENSG00000157388		0.557	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0	30	0	G	NM_000720	Intron	53766990	1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	splice_site	51.16	21	22	SNP	1.000	A	A	53766990	G	A	53766990	5	1	65	1	0	0	0	0	0	0	1	0	2548	1159	40	1	2868	1	CACNA1D	3	53766990	Splice_Site	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	4605774	53766990	144255440	49	17878											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64644328	64644328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttctcttgtgttgtcCgtcttattaccataagcaga	7	18	6	10	1	3	1	0	0	3	1	5	1	4	1	2	0	2	2	2	0	3	7	rs373657194	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:64644328C>T	ENST00000498707.1	-	4	1161	c.819G>A	c.(817-819)acG>acA	p.T273T	ADAMTS9_ENST00000295903.4_Silent_p.T273T|ADAMTS9_ENST00000459780.1_Silent_p.T273T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	273					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGTGTTGTCCGTCTTATTAC	0.443													C|||	35	0.00698882	0	0	5008	,	,		18504	0.001		0	False		,,,				2504	0.0348																0								C		1,4405	2.1+/-5.4	0,1,2202	254	246	248		819	-11.8	0	3		248	0,8600		0,0,4300	no	coding-synonymous	ADAMTS9	NM_182920.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		273/1936	64644328	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.819G>A	3.37:g.64644328C>T			A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T273	ENST00000498707.1	37	c.819	CCDS2903.1	3																																																																																			ADAMTS9	-	NULL	ENSG00000163638		0.443	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	30	0	C			64644328	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.002	T	T	64644328	C	T	64644328	2	4	65	1	0	0	0	0	0	0	0	1	273	639	23	1		1	ADAMTS9	3	64644328	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	10877338	64644328	133378102	50	17879											
PDZRN3	23024	genome.wustl.edu	37	chr3	73433145	73433145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgataggagggcaggtaggCgctgcccagcttctggctgg	6	8	18	9	1	1	1	0	1	1	0	1	2	1	2	1	6	2	5	1	6	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:73433145C>T	ENST00000263666.4	-	10	2686	c.2572G>A	c.(2572-2574)Gcc>Acc	p.A858T	PDZRN3_ENST00000535920.1_Missense_Mutation_p.A580T|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000466780.1_Missense_Mutation_p.A515T|PDZRN3_ENST00000462146.2_Missense_Mutation_p.A515T|PDZRN3_ENST00000479530.1_Missense_Mutation_p.A575T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	858					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGCAGGTAGGCGCTGCCCAGC	0.652																																																	0													52	56	54					3																	73433145		2203	4300	6503	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2572G>A	3.37:g.73433145C>T	ENSP00000263666:p.Ala858Thr		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.A858T	ENST00000263666.4	37	c.2572	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	7.608	0.674140	0.14841	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.13	3.07	0.35406	.	1.141600	0.06429	N	0.723753	T	0.52419	0.1733	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29270	0.24;0.127;0.045;0.039	B;B;B;B	0.25987	0.065;0.01;0.011;0.014	T	0.47586	-0.9106	10	0.51188	T	0.08	.	2.3296	0.04232	0.4843:0.2974:0.104:0.1144	.	580;575;575;858	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	T	858;580;515;515;575	ENSP00000263666:A858T;ENSP00000442026:A580T;ENSP00000418168:A515T;ENSP00000418484:A515T;ENSP00000418624:A575T	ENSP00000263666:A858T	A	-	1	0	PDZRN3	73515835	0.036000	0.19791	0.017000	0.16124	0.553000	0.35397	0.290000	0.18975	0.460000	0.27045	0.655000	0.94253	GCC	PDZRN3	-	NULL	ENSG00000121440		0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	49	0	C	XM_041363		73433145	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	50.68	36	37	SNP	0.036	T	T	73433145	C	T	73433145	3	4	65	1	0	0	0	0	1	0	0	0	11748	768	27	1	632	1	PDZRN3	3	73433145	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	8788817	73433145	124589285	51	17880											
COL6A5	256076	genome.wustl.edu	37	chr3	130110337	130110337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagaggaacatggcagccGcatcaagcaaaatgtgaagc	16	5	11	9	1	1	2	1	1	0	1	1	3	1	3	1	2	5	3	1	2	6	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:130110337G>T	ENST00000432398.2	+	7	3226	c.2732G>T	c.(2731-2733)cGc>cTc	p.R911L	COL6A5_ENST00000265379.6_Missense_Mutation_p.R911L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	911	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATGGCAGCCGCATCAAGCAA	0.498																																																	0													81	65	70					3																	130110337		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.2732G>T	3.37:g.130110337G>T	ENSP00000390895:p.Arg911Leu		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R911L	ENST00000432398.2	37	c.2732		3	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689509	0.48097	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.88124	-2.34;-2.34	5.72	5.72	0.89469	.	.	.	.	.	D	0.94479	0.8223	M	0.88105	2.93	0.47862	D	0.999531	D	0.89917	1.0	D	0.97110	1.0	D	0.94805	0.7974	9	0.62326	D	0.03	.	16.7999	0.85611	0.0:0.0:1.0:0.0	.	911	A8TX70-2	.	L	911	ENSP00000390895:R911L;ENSP00000265379:R911L	ENSP00000265379:R911L	R	+	2	0	COL6A5	131593027	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	6.708000	0.74660	2.705000	0.92388	0.655000	0.94253	CGC	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.498	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding			0	25	0	G	NM_153264		130110337	1			no_errors	ENST00000265379	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.999	T	T	130110337	G	T	130110337	3	4	65	1	0	0	0	0	1	0	0	0	3709	1087	38	2	2754	2	COL6A5	3	130110337	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	56677192	130110337	67912093	52	17881											
C3orf36	80111	genome.wustl.edu	37	chr3	133647490	133647490	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctaggaatgccttcctgAgcgtggttggtgggggctct	5	11	17	8	1	1	1	0	1	1	0	2	3	2	2	2	5	3	3	2	5	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:133647490A>C	ENST00000408895.2	-	1	1166	c.158T>G	c.(157-159)cTc>cGc	p.L53R		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	53										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						TGCCTTCCTGAGCGTGGTTGG	0.642																																																	0													39	41	41					3																	133647490		2203	4300	6503	SO:0001583	missense	0			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.158T>G	3.37:g.133647490A>C	ENSP00000386219:p.Leu53Arg		Q3SXR3|Q9H6K8	Missense_Mutation	SNP	NULL	p.L53R	ENST00000408895.2	37	c.158	CCDS3083.1	3	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536355	0.27475	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.11	1.2	0.21068	.	.	.	.	.	T	0.22322	0.0538	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	P	0.53912	0.737	T	0.08659	-1.0711	8	0.87932	D	0	.	4.1106	0.10057	0.2235:0.0:0.7765:0.0	.	53	Q3SXR2	CC036_HUMAN	R	53	.	ENSP00000386219:L53R	L	-	2	0	C3orf36	135130180	0.009000	0.17119	0.020000	0.16555	0.245000	0.25701	0.908000	0.28545	0.438000	0.26450	0.260000	0.18958	CTC	C3orf36	-	NULL	ENSG00000221972		0.642	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf36	HGNC	protein_coding		-	0	34	0	A	NM_025041		133647490	-1	tier1	-	no_errors	ENST00000408895	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.022	C	C	133647490	A	C	133647490	3	2	65	1	0	0	0	0	1	0	0	0	2233	304	11	4	343	4	C3orf36	3	133647490	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	3537153	133647490	64374940	53	17882											
AMOTL2	51421	genome.wustl.edu	37	chr3	134086487	134086487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgaggaggcctgggcaCtcactggcccctccacagca	7	6	13	15	0	1	1	1	1	0	0	2	2	2	2	4	5	1	3	4	5	0	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:134086487C>T	ENST00000422605.2	-	3	1059	c.893G>A	c.(892-894)aGt>aAt	p.S298N	AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000514516.1_Missense_Mutation_p.S356N|AMOTL2_ENST00000513145.1_Missense_Mutation_p.S298N|AMOTL2_ENST00000249883.5_Missense_Mutation_p.S298N			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	298					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)		p.S298T(1)		endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCTGGGCACTCACTGGCCC	0.672																																																	1	Substitution - Missense(1)	ovary(1)											31	34	33					3																	134086487		2203	4300	6503	SO:0001583	missense	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.893G>A	3.37:g.134086487C>T	ENSP00000409999:p.Ser298Asn		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.S298N	ENST00000422605.2	37	c.893		3	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163590	0.21538	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.37	3.41	0.39046	.	1.563470	0.03426	N	0.207036	T	0.21186	0.0510	L	0.42245	1.32	0.09310	N	1	B;B;B	0.14012	0.006;0.006;0.009	B;B;B	0.13407	0.009;0.009;0.008	T	0.29088	-1.0023	10	0.16896	T	0.51	-2.9386	9.8339	0.40958	0.0:0.6994:0.2162:0.0843	.	298;298;356	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	N	298;298;356;298	ENSP00000249883:S298N;ENSP00000409999:S298N;ENSP00000424765:S356N;ENSP00000425475:S298N	ENSP00000249883:S298N	S	-	2	0	AMOTL2	135569177	0.000000	0.05858	0.012000	0.15200	0.742000	0.42306	0.225000	0.17757	1.384000	0.46424	0.462000	0.41574	AGT	AMOTL2	-	NULL	ENSG00000114019		0.672	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1		0	41	0	C	NM_016201		134086487	-1			no_errors	ENST00000249883	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.001	T	T	134086487	C	T	134086487	3	4	65	1	0	0	0	0	1	0	0	0	584	565	20	3	1481	3	AMOTL2	3	134086487	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	438997	134086487	63935943	54	17883											
CPB1	1360	genome.wustl.edu	37	chr3	148562324	148562324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctcgacaagttagacttTtatgtcctgcctgtgctcaa	8	15	7	11	1	2	1	1	0	1	1	4	2	3	1	2	0	2	2	2	0	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:148562324T>G	ENST00000491148.1	+	8	970	c.636T>G	c.(634-636)ttT>ttG	p.F212L	CPB1_ENST00000282957.4_Missense_Mutation_p.F212L			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	212						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGTTAGACTTTTATGTCCTGC	0.423																																																	0													107	89	95					3																	148562324		2203	4300	6503	SO:0001583	missense	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"pancreatic carboxypeptidase B", "tissue carboxypeptidase B", "protaminase"	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.636T>G	3.37:g.148562324T>G	ENSP00000417222:p.Phe212Leu		O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.F212L	ENST00000491148.1	37	c.636	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	T	19.29	3.798553	0.70567	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.28454	1.61;1.61;1.61	5.78	-5.15	0.02866	Peptidase M14, carboxypeptidase A (2);	0.106092	0.64402	D	0.000005	T	0.45175	0.1329	L	0.58810	1.83	0.54753	D	0.999985	D	0.65815	0.995	D	0.63283	0.913	T	0.53373	-0.8448	10	0.66056	D	0.02	.	18.782	0.91937	0.0:0.7851:0.0:0.2149	.	212	P15086	CBPB1_HUMAN	L	212;212;178	ENSP00000417222:F212L;ENSP00000282957:F212L;ENSP00000419427:F178L	ENSP00000282957:F212L	F	+	3	2	CPB1	150045014	0.998000	0.40836	0.908000	0.35775	0.387000	0.30353	0.506000	0.22658	-0.969000	0.03573	-0.250000	0.11733	TTT	CPB1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000153002		0.423	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	-	0	21	0	T	NM_001871		148562324	1	tier1	-	no_errors	ENST00000282957	ensembl	human	known	74_37	missense	58.00	21	29	SNP	0.972	G	G	148562324	T	G	148562324	3	3	65	1	0	0	0	0	1	0	0	0	3803	1838	64	4	662	4	CPB1	3	148562324	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	14475837	148562324	49460106	55	17884											
MED12L	116931	genome.wustl.edu	37	chr3	151085514	151085514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtttttccctggaggaCgtcgtgcagcatgtcgcact	6	12	12	11	3	0	0	0	0	0	0	3	2	1	2	1	2	2	4	1	2	0	2	rs141664377	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:151085514C>A	ENST00000474524.1	+	22	3341	c.3303C>A	c.(3301-3303)gaC>gaA	p.D1101E	MED12L_ENST00000273432.4_Missense_Mutation_p.D961E|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1101						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCCTGGAGGACGTCGTGCAGC	0.448																																																	0													211	183	193					3																	151085514		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3303C>A	3.37:g.151085514C>A	ENSP00000417235:p.Asp1101Glu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.D1101E	ENST00000474524.1	37	c.3303	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197921	0.79015	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.19669	2.13;2.13	5.61	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	L	0.49350	1.555	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	D;D;D	0.80764	0.994;0.984;0.982	T	0.06427	-1.0827	10	0.87932	D	0	-31.5678	5.2724	0.15632	0.0:0.5285:0.0:0.4715	.	961;1100;1101	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	E	1101;961	ENSP00000417235:D1101E;ENSP00000273432:D961E	ENSP00000273432:D961E	D	+	3	2	MED12L	152568204	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.643000	0.24750	0.814000	0.34374	0.655000	0.94253	GAC	MED12L	-	NULL	ENSG00000144893		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	53	0	C	NM_053002		151085514	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	16.36	92	18	SNP	1.000	A	A	151085514	C	A	151085514	3	1	65	1	0	0	0	0	1	0	0	0	9467	535	19	2	3389	2	MED12L	3	151085514	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	2523190	151085514	46936916	56	17885											
SLC7A14	57709	genome.wustl.edu	37	chr3	170198216	170198216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcttcttggggttctctgGctgctgcaggatcacaaaca	8	11	11	11	0	3	0	1	0	2	0	4	1	3	1	0	4	4	5	0	4	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:170198216G>T	ENST00000231706.5	-	7	2170	c.1855C>A	c.(1855-1857)Cca>Aca	p.P619T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	619					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGGTTCTCTGGCTGCTGCAGG	0.547																																																	0													99	102	101					3																	170198216		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1855C>A	3.37:g.170198216G>T	ENSP00000231706:p.Pro619Thr		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.P619T	ENST00000231706.5	37	c.1855	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287575	0.80803	.	.	ENSG00000013293	ENST00000231706	D	0.90788	-2.73	5.6	5.6	0.85130	.	0.047191	0.85682	D	0.000000	D	0.95284	0.8470	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94685	0.7869	10	0.49607	T	0.09	.	19.6071	0.95585	0.0:0.0:1.0:0.0	.	619	Q8TBB6	S7A14_HUMAN	T	619	ENSP00000231706:P619T	ENSP00000231706:P619T	P	-	1	0	SLC7A14	171680910	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.627000	0.88993	0.655000	0.94253	CCA	SLC7A14	-	NULL	ENSG00000013293		0.547	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	-	0	35	0	G	NM_020949		170198216	-1	tier1	-	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	T	T	170198216	G	T	170198216	3	4	65	1	0	0	0	0	1	0	0	0	14741	1203	42	3	468	3	SLC7A14	3	170198216	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	19112702	170198216	27824214	57	17886											
NAALADL2	254827	genome.wustl.edu	37	chr3	174577232	174577232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtttacctaacacgtCtttgcaaggtaagtaccaac	14	10	7	10	1	1	0	0	0	1	0	1	0	1	0	2	1	6	5	2	1	7	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:174577232C>A	ENST00000454872.1	+	1	163	c.35C>A	c.(34-36)tCt>tAt	p.S12Y		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	12						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCTAACACGTCTTTGCAAGGT	0.378																																																	0													115	110	112					3																	174577232		1886	4094	5980	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.35C>A	3.37:g.174577232C>A	ENSP00000404705:p.Ser12Tyr		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.S12Y	ENST00000454872.1	37	c.35	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301102	0.40694	.	.	ENSG00000177694	ENST00000454872	T	0.34667	1.35	5.85	5.85	0.93711	.	.	.	.	.	T	0.36853	0.0982	N	0.08118	0	0.29773	N	0.83466	D	0.57257	0.979	P	0.53722	0.733	T	0.41592	-0.9500	9	0.87932	D	0	.	20.137	0.98033	0.0:1.0:0.0:0.0	.	12	Q58DX5	NADL2_HUMAN	Y	12	ENSP00000404705:S12Y	ENSP00000404705:S12Y	S	+	2	0	NAALADL2	176059926	0.990000	0.36364	0.964000	0.40570	0.553000	0.35397	5.153000	0.64888	2.932000	0.99384	0.643000	0.83706	TCT	NAALADL2	-	NULL	ENSG00000177694		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	-	0	34	0	C	NM_207015		174577232	1	tier1	-	no_errors	ENST00000454872	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.972	A	A	174577232	C	A	174577232	3	1	65	1	0	0	0	0	1	0	0	0	10168	913	32	3	37	3	NAALADL2	3	174577232	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	4379016	174577232	23445198	58	17887											
SENP2	59343	genome.wustl.edu	37	chr3	185304241	185304241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctcggcaccattttcCgtttctgcgaccggtcggtg	4	13	12	12	5	2	0	0	0	2	0	5	2	3	1	3	4	1	2	3	4	0	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:185304241C>A	ENST00000296257.5	+	1	280	c.40C>A	c.(40-42)Cgt>Agt	p.R14S	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000545472.1_Intron|SENP2_ENST00000465201.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	14					cellular protein metabolic process (GO:0044267)|dorsal/ventral axis specification (GO:0009950)|heart development (GO:0007507)|labyrinthine layer development (GO:0060711)|mRNA transport (GO:0051028)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein binding (GO:0032091)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|protein transport (GO:0015031)|regulation of DNA endoreduplication (GO:0032875)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of Wnt signaling pathway (GO:0030111)|spongiotrophoblast layer development (GO:0060712)|trophoblast giant cell differentiation (GO:0060707)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	SUMO-specific protease activity (GO:0016929)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CACCATTTTCCGTTTCTGCGA	0.662																																																	0													100	102	101					3																	185304241		2203	4300	6503	SO:0001583	missense	0			AF151697	CCDS33902.1	3q28	2005-08-17	2005-08-17		ENSG00000163904	ENSG00000163904			23116	protein-coding gene	gene with protein product		608261	"SUMO1/sentrin/SMT3 specific protease 2"			11896061, 11489887	Standard	XM_005247690		Approved	SMT3IP2, KIAA1331, DKFZp762A2316, AXAM2	uc003fpn.3	Q9HC62	OTTHUMG00000156658	ENST00000296257.5:c.40C>A	3.37:g.185304241C>A	ENSP00000296257:p.Arg14Ser		B4DQ42|Q8IW97|Q96SR2|Q9P2L5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.R14S	ENST00000296257.5	37	c.40	CCDS33902.1	3	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291193	0.59976	.	.	ENSG00000163904	ENST00000296257;ENST00000437107	T	0.29917	1.55	5.02	4.13	0.48395	.	0.000000	0.43747	D	0.000527	T	0.14657	0.0354	N	0.14661	0.345	0.80722	D	1	P	0.35401	0.499	B	0.32342	0.144	T	0.07481	-1.0770	10	0.14656	T	0.56	-10.4279	9.4715	0.38844	0.0:0.9019:0.0:0.0981	.	14	Q9HC62	SENP2_HUMAN	S	14	ENSP00000296257:R14S	ENSP00000296257:R14S	R	+	1	0	SENP2	186786935	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.601000	0.36773	2.605000	0.88082	0.655000	0.94253	CGT	SENP2	-	NULL	ENSG00000163904		0.662	SENP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP2	HGNC	protein_coding	OTTHUMT00000345159.1	-	0	88	0	C	NM_021627		185304241	1	tier1	-	no_errors	ENST00000296257	ensembl	human	known	74_37	missense	18.78	147	34	SNP	1.000	A	A	185304241	C	A	185304241	3	1	65	1	0	0	0	0	1	0	0	0	14092	652	23	2	42	2	SENP2	3	185304241	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	10727009	185304241	12718189	59	17888											
ATP13A4	84239	genome.wustl.edu	37	chr3	193120496	193120496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgtaagacactcctctgCcacactccggcatgtcagag	9	9	9	14	1	2	2	1	0	1	2	4	2	4	2	3	1	2	3	3	1	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr3:193120496C>T	ENST00000342695.4	-	30	3858	c.3536G>A	c.(3535-3537)gGc>gAc	p.G1179D	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G1160D|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000400270.2_Missense_Mutation_p.G195D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1179						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CACTCCTCTGCCACACTCCGG	0.463																																																	0													99	97	98					3																	193120496		2203	4300	6503	SO:0001583	missense	0			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"ATPases / P-type"	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3536G>A	3.37:g.193120496C>T	ENSP00000339182:p.Gly1179Asp		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.G1179D	ENST00000342695.4	37	c.3536	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	C	3.867	-0.028659	0.07589	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.84944	0.48;-1.63;-1.92	4.63	0.531	0.17108	.	0.505595	0.17196	N	0.183316	T	0.72803	0.3506	L	0.35854	1.095	0.19300	N	0.999979	B	0.10296	0.003	B	0.13407	0.009	T	0.55062	-0.8199	10	0.22109	T	0.4	-29.4619	5.2186	0.15356	0.0:0.5634:0.1548:0.2818	.	1179	Q4VNC1	AT134_HUMAN	D	195;1160;1179	ENSP00000383129:G195D;ENSP00000376238:G1160D;ENSP00000339182:G1179D	ENSP00000339182:G1179D	G	-	2	0	ATP13A4	194603190	0.000000	0.05858	0.028000	0.17463	0.046000	0.14306	-1.480000	0.02325	0.497000	0.27926	0.597000	0.82753	GGC	ATP13A4	-	NULL	ENSG00000127249		0.463	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	-	0	44	0	C	NM_032279		193120496	-1	tier1	-	no_errors	ENST00000342695	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.007	T	T	193120496	C	T	193120496	3	4	65	1	0	0	0	0	1	0	0	0	1127	739	26	3	58	3	ATP13A4	3	193120496	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	7816255	193120496	4901934	60	17889											
CCDC158	339965	genome.wustl.edu	37	chr4	77250093	77250093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagagggatcttccctGtctcctgcgtgtaatgtgac	8	11	10	12	1	2	2	0	1	2	1	4	3	3	3	3	1	2	1	3	1	2	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:77250093G>A	ENST00000388914.3	-	21	3110	c.2958C>T	c.(2956-2958)gaC>gaT	p.D986D		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	986	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATCTTCCCTGTCTCCTGCGT	0.448																																																	0													133	126	128					4																	77250093		1974	4173	6147	SO:0001819	synonymous_variant	0			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2958C>T	4.37:g.77250093G>A			Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	superfamily_Prefoldin	p.D986	ENST00000388914.3	37	c.2958	CCDS43242.1	4																																																																																			CCDC158	-	NULL	ENSG00000163749		0.448	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	-	0	48	0	G	NM_001042784		77250093	-1	tier1	-	no_errors	ENST00000388914	ensembl	human	known	74_37	silent	31.71	28	13	SNP	0.927	A	A	77250093	G	A	77250093	2	1	65	1	0	0	0	0	0	0	0	1	2797	1368	48	3		3	CCDC158	4	77250093	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09		77250093	113904183	61	17890											
LIN54	132660	genome.wustl.edu	37	chr4	83905687	83905687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatagtcacaggagtctgaGcaccaagtttttgaaggcca	13	10	10	8	0	2	2	1	2	1	0	2	3	2	3	2	2	1	2	2	2	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:83905687G>T	ENST00000340417.3	-	2	688	c.311C>A	c.(310-312)gCt>gAt	p.A104D	LIN54_ENST00000505397.1_Missense_Mutation_p.A104D|LIN54_ENST00000395282.2_Missense_Mutation_p.A104D|LIN54_ENST00000506560.1_Missense_Mutation_p.A104D|LIN54_ENST00000395283.2_Missense_Mutation_p.A104D|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	104					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGGAGTCTGAGCACCAAGTTT	0.388																																																	0													229	229	229					4																	83905687		2203	4300	6503	SO:0001583	missense	0			BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"CXC domain containing 1"	613367	"lin-54 homolog (C. elegans)"			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.311C>A	4.37:g.83905687G>T	ENSP00000341947:p.Ala104Asp		Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	pfam_CRC	p.A104D	ENST00000340417.3	37	c.311	CCDS3599.1	4	.	.	.	.	.	.	.	.	.	.	G	13.14	2.146774	0.37923	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000395282;ENST00000506560;ENST00000505397	.	.	.	5.36	4.52	0.55395	.	0.200035	0.43260	D	0.000590	T	0.45478	0.1344	N	0.19112	0.55	0.47621	D	0.999475	B;B	0.26195	0.144;0.037	B;B	0.28849	0.095;0.044	T	0.45833	-0.9234	9	0.72032	D	0.01	-16.3737	14.0467	0.64708	0.073:0.0:0.927:0.0	.	104;104	Q6MZP7-2;Q6MZP7	.;LIN54_HUMAN	D	104	.	ENSP00000341947:A104D	A	-	2	0	LIN54	84124711	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.710000	0.74670	1.260000	0.44134	-0.140000	0.14226	GCT	LIN54	-	NULL	ENSG00000189308		0.388	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN54	HGNC	protein_coding	OTTHUMT00000252626.2		0	48	0	G	NM_194282		83905687	-1			no_errors	ENST00000340417	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	83905687	G	T	83905687	3	4	65	1	0	0	0	0	1	0	0	0	8839	971	34	3	1986	3	LIN54	4	83905687	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	6655594	83905687	107248589	62	17891											
TRAM1L1	133022	genome.wustl.edu	37	chr4	118006215	118006215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgttttgtttcgctttgGtgaactgcattctcttgtta	5	21	8	7	1	1	1	0	1	1	0	3	1	1	1	0	1	2	5	0	1	2	8			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:118006215G>A	ENST00000310754.4	-	1	521	c.335C>T	c.(334-336)aCc>aTc	p.T112I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	112					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTTCGCTTTGGTGAACTGCAT	0.368																																																	0													91	80	84					4																	118006215		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.335C>T	4.37:g.118006215G>A	ENSP00000309402:p.Thr112Ile		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.T112I	ENST00000310754.4	37	c.335	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587703	0.66105	.	.	ENSG00000174599	ENST00000310754	T	0.45668	0.89	4.29	3.45	0.39498	TRAM1-like protein (1);	0.156524	0.64402	D	0.000015	T	0.44095	0.1277	L	0.29908	0.895	0.40381	D	0.979445	P	0.35107	0.484	P	0.50162	0.633	T	0.50767	-0.8789	10	0.87932	D	0	-21.8889	10.3176	0.43747	0.0978:0.0:0.9022:0.0	.	112	Q8N609	TR1L1_HUMAN	I	112	ENSP00000309402:T112I	ENSP00000309402:T112I	T	-	2	0	TRAM1L1	118225663	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	8.482000	0.90439	1.390000	0.46547	0.655000	0.94253	ACC	TRAM1L1	-	pfam_TRAM1,pirsf_Translocation_assoc_membrane	ENSG00000174599		0.368	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0	45	0	G	NM_152402		118006215	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	60.00	18	27	SNP	1.000	A	A	118006215	G	A	118006215	3	1	65	1	0	0	0	0	1	0	0	0	16500	1261	44	3	778	3	TRAM1L1	4	118006215	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	34100528	118006215	73148061	63	17892											
DCHS2	54798	genome.wustl.edu	37	chr4	155157812	155157812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatagctcaggctgctgaaGtttgggggattgtcattgac	8	13	14	6	0	2	3	2	3	0	0	2	4	2	4	0	3	2	4	0	3	2	4	rs202030719		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr4:155157812G>T	ENST00000357232.4	-	25	6626	c.6627C>A	c.(6625-6627)aaC>aaA	p.N2209K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2209	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTGCTGAAGTTTGGGGGAT	0.493																																																	0													85	84	84					4																	155157812		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6627C>A	4.37:g.155157812G>T	ENSP00000349768:p.Asn2209Lys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N2209K	ENST00000357232.4	37	c.6627	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.084723	0.00371	.	.	ENSG00000197410	ENST00000357232	T	0.60040	0.22	6.04	-8.57	0.00900	Cadherin (2);Cadherin-like (1);	1.520670	0.03678	N	0.245114	T	0.24392	0.0591	N	0.02247	-0.625	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	10	0.06236	T	0.91	.	9.9543	0.41657	0.0:0.4377:0.2798:0.2825	.	2209	Q6V1P9	PCD23_HUMAN	K	2209	ENSP00000349768:N2209K	ENSP00000349768:N2209K	N	-	3	2	DCHS2	155377262	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.849000	0.04322	-2.017000	0.00944	-0.311000	0.09066	AAC	DCHS2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197410		0.493	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	35	0	G	NM_001142552		155157812	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	68.00	8	17	SNP	0.000	T	T	155157812	G	T	155157812	3	4	65	1	0	0	0	0	1	0	0	0	4297	1020	36	3	2127	3	DCHS2	4	155157812	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	37151597	155157812	35996464	64	17893											
CDH18	1016	genome.wustl.edu	37	chr5	19571717	19571717	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttagtactgtcaggatcTtgtgccaaaactgtaccaac	11	12	8	10	0	2	0	1	0	1	0	2	1	2	1	2	1	5	3	2	1	6	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:19571717T>C	ENST00000507958.1	-	10	2214	c.1224A>G	c.(1222-1224)caA>caG	p.Q408Q	CDH18_ENST00000502796.1_Silent_p.Q408Q|CDH18_ENST00000511273.1_Silent_p.Q408Q|CDH18_ENST00000274170.4_Silent_p.Q408Q|CDH18_ENST00000382275.1_Silent_p.Q408Q|CDH18_ENST00000506372.1_Silent_p.Q408Q			Q13634	CAD18_HUMAN	cadherin 18, type 2	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTCAGGATCTTGTGCCAAAA	0.398																																																	0													153	129	137					5																	19571717		2203	4300	6503	SO:0001819	synonymous_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1224A>G	5.37:g.19571717T>C			A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q408	ENST00000507958.1	37	c.1224	CCDS3889.1	5																																																																																			CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.398	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0	29	0	T	NM_004934		19571717	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	silent	28.21	28	11	SNP	1.000	C	C	19571717	T	C	19571717	2	2	65	1	0	0	0	0	0	0	0	1	3110	1606	56	4		4	CDH18	5	19571717	Silent	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09		19571717	161343543	65	17894											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33576648	33576648	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcaggctgttctctttcTtcccctgagccactgtgaat	5	15	7	14	0	3	2	1	2	2	0	6	2	5	2	4	1	1	2	4	1	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:33576648T>G	ENST00000504830.1	-	19	3818	c.3483A>C	c.(3481-3483)gaA>gaC	p.E1161D	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1076D|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1161	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTTCTCTTTCTTCCCCTGAGC	0.463										HNSCC(64;0.19)																																							0													164	150	155					5																	33576648		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3483A>C	5.37:g.33576648T>G	ENSP00000422554:p.Glu1161Asp		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1161D	ENST00000504830.1	37	c.3483	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	T	15.18	2.757146	0.49468	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.61040	0.17;0.14	5.43	0.257	0.15574	.	0.651867	0.16598	N	0.207445	T	0.37348	0.1000	L	0.36672	1.1	0.80722	D	1	B;B	0.17465	0.02;0.022	B;B	0.16722	0.016;0.007	T	0.08186	-1.0734	10	0.14656	T	0.56	.	3.4727	0.07573	0.2817:0.1528:0.0:0.5655	.	1076;1161	P58397-3;P58397	.;ATS12_HUMAN	D	1161;1076	ENSP00000422554:E1161D;ENSP00000344847:E1076D	ENSP00000344847:E1076D	E	-	3	2	ADAMTS12	33612405	0.979000	0.34478	0.492000	0.27490	0.749000	0.42624	0.892000	0.28322	-0.082000	0.12640	0.533000	0.62120	GAA	ADAMTS12	-	NULL	ENSG00000151388		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	21	0	T	NM_030955		33576648	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.886	G	G	33576648	T	G	33576648	3	3	65	1	0	0	0	0	1	0	0	0	257	1606	56	4	1325	4	ADAMTS12	5	33576648	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	14004931	33576648	147338612	66	17895											
PARP8	79668	genome.wustl.edu	37	chr5	50091052	50091052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccataaactgttaagcaggtCttactctagtaatctcagaa	14	12	6	9	0	3	1	1	0	3	1	4	1	3	1	1	1	3	3	1	1	7	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:50091052C>G	ENST00000281631.5	+	12	1387	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C	PARP8_ENST00000514067.2_Missense_Mutation_p.S410C|PARP8_ENST00000503750.2_Missense_Mutation_p.S410C|PARP8_ENST00000505697.2_Missense_Mutation_p.S410C|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.S163C|PARP8_ENST00000505554.1_Missense_Mutation_p.S389C	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	410						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTAAGCAGGTCTTACTCTAGT	0.418																																																	0													85	83	84					5																	50091052		2203	4300	6503	SO:0001583	missense	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1229C>G	5.37:g.50091052C>G	ENSP00000281631:p.Ser410Cys		Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S410C	ENST00000281631.5	37	c.1229	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219120	0.79464	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	L	0.38175	1.15	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.987;0.987;0.993	T	0.69296	-0.5182	8	.	.	.	-13.7987	19.329	0.94278	0.0:1.0:0.0:0.0	.	302;410;410	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	C	410;410;163;410;410;389;163;163	.	.	S	+	2	0	PARP8	50126809	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.421000	0.73353	2.605000	0.88082	0.655000	0.94253	TCT	PARP8	-	NULL	ENSG00000151883		0.418	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	-	0	44	0	C	NM_024615		50091052	1	tier1	-	no_errors	ENST00000281631	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	G	G	50091052	C	G	50091052	3	3	65	1	0	0	0	0	1	0	0	0	11504	913	32	5	1275	5	PARP8	5	50091052	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	16514404	50091052	130824208	67	17896											
POC5	134359	genome.wustl.edu	37	chr5	74990572	74990572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttttaaatgtgctgcatGtttttctttctcttttctca	5	24	5	7	0	3	0	1	0	3	0	5	0	3	0	0	0	2	4	0	0	2	8	rs201679415		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:74990572G>A	ENST00000428202.2	-	6	787	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	POC5_ENST00000380475.2_Missense_Mutation_p.H83Y|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000510798.1_Missense_Mutation_p.H83Y|POC5_ENST00000514838.2_Missense_Mutation_p.H172Y|POC5_ENST00000446329.2_Missense_Mutation_p.H175Y	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	200					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGCTGCATGTTTTTCTTTC	0.323																																																	0													67	64	65					5																	74990572		1809	4085	5894	SO:0001583	missense	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.598C>T	5.37:g.74990572G>A	ENSP00000410216:p.His200Tyr		B4DJG7|Q494X7|Q494X9|Q6P085	Missense_Mutation	SNP	NULL	p.H200Y	ENST00000428202.2	37	c.598	CCDS47236.1	5	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474120	0.43942	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329;ENST00000503835	T;T;T;T;T;T	0.51071	1.74;1.33;0.72;0.72;1.73;2.58	5.42	4.51	0.55191	.	0.264187	0.43110	D	0.000611	T	0.60663	0.2286	M	0.78637	2.42	0.47183	D	0.999349	D;B;P	0.53745	0.962;0.118;0.589	P;B;P	0.51453	0.67;0.109;0.474	T	0.67960	-0.5535	10	0.72032	D	0.01	-4.4135	15.5631	0.76266	0.0:0.0:0.8615:0.1385	.	83;200;175	Q8NA72-2;Q8NA72;Q8NA72-3	.;POC5_HUMAN;.	Y	200;172;83;83;175;83	ENSP00000410216:H200Y;ENSP00000420971:H172Y;ENSP00000369842:H83Y;ENSP00000426796:H83Y;ENSP00000399481:H175Y;ENSP00000424264:H83Y	ENSP00000369842:H83Y	H	-	1	0	POC5	75026328	1.000000	0.71417	0.709000	0.30452	0.787000	0.44495	3.940000	0.56599	2.551000	0.86045	0.650000	0.86243	CAT	POC5	-	NULL	ENSG00000152359		0.323	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1	-	0	29	0	G	NM_152408		74990572	-1	tier1	rs201679415	no_errors	ENST00000428202	ensembl	human	known	74_37	missense	76.47	4	13	SNP	0.998	A	A	74990572	G	A	74990572	3	1	65	1	0	0	0	0	1	0	0	0	12216	1377	48	3	1157	3	POC5	5	74990572	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	24899520	74990572	105924688	68	17897											
PDE8B	8622	genome.wustl.edu	37	chr5	76707514	76707514	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attccaggacggcttgagaaGactgtcaggaaacgagtatg	13	8	13	7	2	1	2	1	1	0	2	2	6	2	4	1	3	1	2	1	3	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:76707514G>C	ENST00000264917.5	+	15	1589	c.1544G>C	c.(1543-1545)aGa>aCa	p.R515T	PDE8B_ENST00000340978.3_Missense_Mutation_p.R468T|PDE8B_ENST00000346042.3_Missense_Mutation_p.R418T|PDE8B_ENST00000505283.1_5'UTR|PDE8B_ENST00000333194.4_Missense_Mutation_p.R460T|PDE8B_ENST00000342343.4_Missense_Mutation_p.R495T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	515					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GGCTTGAGAAGACTGTCAGGA	0.373																																																	0													93	88	89					5																	76707514		2203	4300	6503	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1544G>C	5.37:g.76707514G>C	ENSP00000264917:p.Arg515Thr		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.R515T	ENST00000264917.5	37	c.1544	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513924	0.85389	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.72167	-0.36;-0.63;-0.36;-0.36;-0.62	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.998	D;D;D;D;D	0.80764	0.979;0.991;0.994;0.975;0.945	D	0.86960	0.2091	10	0.54805	T	0.06	.	18.5762	0.91155	0.0:0.0:1.0:0.0	.	418;468;460;495;515	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	468;418;515;495;460	ENSP00000345446:R468T;ENSP00000330428:R418T;ENSP00000264917:R515T;ENSP00000345646:R495T;ENSP00000331336:R460T	ENSP00000264917:R515T	R	+	2	0	PDE8B	76743270	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	9.808000	0.99193	2.393000	0.81446	0.655000	0.94253	AGA	PDE8B	-	NULL	ENSG00000113231		0.373	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	-	0	56	0	G	NM_003719		76707514	1	tier1	-	no_errors	ENST00000264917	ensembl	human	known	74_37	missense	57.89	16	22	SNP	1.000	C	C	76707514	G	C	76707514	3	2	65	1	0	0	0	0	1	0	0	0	11693	942	33	5	1602	5	PDE8B	5	76707514	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	1716942	76707514	104207746	69	17898											
SLC12A2	6558	genome.wustl.edu	37	chr5	127514328	127514328	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctagtacacagtttcAgaaaaaacaaggaaagaata	21	7	8	5	0	1	3	1	1	0	2	1	4	1	4	0	1	3	3	0	1	10	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:127514328A>T	ENST00000262461.2	+	22	3236	c.3047A>T	c.(3046-3048)cAg>cTg	p.Q1016L	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.Q1000L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1016					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ACACAGTTTCAGAAAAAACAA	0.313																																																	0													81	85	83					5																	127514328		2203	4300	6503	SO:0001583	missense	0				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.3047A>T	5.37:g.127514328A>T	ENSP00000262461:p.Gln1016Leu		Q8N713|Q8WWH7	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.Q1016L	ENST00000262461.2	37	c.3047	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628820	0.67015	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.88896	-2.44;-2.44	5.19	5.19	0.71726	.	0.116179	0.64402	D	0.000011	D	0.91078	0.7192	M	0.90019	3.08	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.13407	0.009;0.006	D	0.89734	0.3928	10	0.87932	D	0	.	15.5124	0.75793	1.0:0.0:0.0:0.0	.	1000;1016	P55011-3;P55011	.;S12A2_HUMAN	L	1016;1000	ENSP00000262461:Q1016L;ENSP00000340878:Q1000L	ENSP00000262461:Q1016L	Q	+	2	0	SLC12A2	127542227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.020000	0.93667	2.311000	0.77944	0.533000	0.62120	CAG	SLC12A2	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.313	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	-	0	33	0	A	NM_001046		127514328	1	tier1	-	no_errors	ENST00000262461	ensembl	human	known	74_37	missense	69.23	8	18	SNP	1.000	T	T	127514328	A	T	127514328	3	4	65	1	0	0	0	0	1	0	0	0	14428	188	7	5	3133	5	SLC12A2	5	127514328	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	50806814	127514328	53400932	70	17899											
KIF20A	10112	genome.wustl.edu	37	chr5	137518143	137518143	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagggaaaacccacacGattcaaggtgagtagtaagc	16	6	10	9	1	2	1	2	1	0	0	2	3	2	2	1	2	3	2	1	2	6	3	rs375606679		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:137518143G>T	ENST00000394894.3	+	5	733	c.507G>T	c.(505-507)acG>acT	p.T169T	KIF20A_ENST00000508792.1_Silent_p.T151T	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	169	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.T169T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAACCCACACGATTCAAGGTG	0.453																																																	1	Substitution - coding silent(1)	endometrium(1)											76	72	74					5																	137518143		2203	4300	6503	SO:0001819	synonymous_variant	0			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.507G>T	5.37:g.137518143G>T			B4DL79|D3DQB6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T169	ENST00000394894.3	37	c.507	CCDS4199.1	5																																																																																			KIF20A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000112984		0.453	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1		0	48	0	G	NM_005733		137518143	1			no_errors	ENST00000394894	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.197	T	T	137518143	G	T	137518143	2	4	65	1	0	0	0	0	0	0	0	1	8313	1045	37	2		2	KIF20A	5	137518143	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	10003815	137518143	43397117	71	17900											
PCDHA5	56143	genome.wustl.edu	37	chr5	140201528	140201528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctagggctggagctggcGgagctggtgccgcgcctgtt	4	8	18	11	3	0	0	0	0	0	0	0	3	0	2	3	5	3	4	3	5	1	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140201528G>A	ENST00000529859.1	+	1	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.A56A|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.A56A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	56	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q49fs*50(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.627																																																	1	Deletion - Frameshift(1)	breast(1)											59	69	65					5																	140201528		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.168G>A	5.37:g.140201528G>A			O75284|Q8N4R3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A56	ENST00000529859.1	37	c.168	CCDS54917.1	5																																																																																			PCDHA5	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204965		0.627	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	-	0	60	0	G	NM_018908		140201528	1	tier1	-	no_errors	ENST00000529859	ensembl	human	known	74_37	silent	10.91	49	6	SNP	0.000	A	A	140201528	G	A	140201528	2	1	65	1	0	0	0	0	0	0	0	1	11566	1103	39	1		1	PCDHA5	5	140201528	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	2683385	140201528	40713732	72	17901											
PCDHA11	56138	genome.wustl.edu	37	chr5	140250658	140250658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatcacggtgagccggCgctgacggccacggccaccg	8	3	16	14	6	1	2	1	2	0	0	1	4	1	3	4	5	1	1	4	5	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140250658C>T	ENST00000398640.2	+	1	1970	c.1970C>T	c.(1969-1971)gCg>gTg	p.A657V	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCCGGCGCTGACGGCC	0.677																																																	0													31	37	35					5																	140250658		2199	4297	6496	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1970C>T	5.37:g.140250658C>T	ENSP00000381636:p.Ala657Val		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A657V	ENST00000398640.2	37	c.1970	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	3.468	-0.108514	0.06924	.	.	ENSG00000249158	ENST00000398640	T	0.53206	0.63	4.61	-0.501	0.12008	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35278	0.0926	L	0.46614	1.455	0.09310	N	1	B;B	0.18166	0.021;0.026	B;B	0.21708	0.022;0.036	T	0.35724	-0.9777	9	0.54805	T	0.06	.	2.576	0.04807	0.1163:0.496:0.1137:0.274	.	657;657	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	V	657	ENSP00000381636:A657V	ENSP00000381636:A657V	A	+	2	0	PCDHA11	140230842	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.694000	0.25512	-0.174000	0.10743	0.561000	0.74099	GCG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.677	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0	52	0	C	NM_018902		140250658	1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	14.67	64	11	SNP	0.025	T	T	140250658	C	T	140250658	3	4	65	1	0	0	0	0	1	0	0	0	11560	768	27	1	1972	1	PCDHA11	5	140250658	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	49130	140250658	40664602	73	17902											
PCDHB1	29930	genome.wustl.edu	37	chr5	140431977	140431977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgactaagaggacccctcGattttgaagccattgaaaca	13	10	8	10	2	0	3	0	2	0	1	2	6	0	4	3	1	2	0	3	1	3	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140431977G>T	ENST00000306549.3	+	1	999	c.922G>T	c.(922-924)Gat>Tat	p.D308Y		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGACCCCTCGATTTTGAAGC	0.448																																																	0													94	94	94					5																	140431977		2203	4300	6503	SO:0001583	missense	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.922G>T	5.37:g.140431977G>T	ENSP00000307234:p.Asp308Tyr		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D308Y	ENST00000306549.3	37	c.922	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919372	0.52653	.	.	ENSG00000171815	ENST00000306549	T	0.65549	-0.16	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.49305	D	0.000154	D	0.90796	0.7110	H	0.99952	5.035	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	D	0.94533	0.7738	10	0.87932	D	0	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	308	Q9Y5F3	PCDB1_HUMAN	Y	308	ENSP00000307234:D308Y	ENSP00000307234:D308Y	D	+	1	0	PCDHB1	140412161	1.000000	0.71417	0.981000	0.43875	0.606000	0.37113	6.739000	0.74827	2.941000	0.99782	0.655000	0.94253	GAT	PCDHB1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000171815		0.448	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2		0	32	0	G	NM_013340		140431977	1			no_errors	ENST00000306549	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	140431977	G	T	140431977	3	4	65	1	0	0	0	0	1	0	0	0	11573	1058	37	2	924	2	PCDHB1	5	140431977	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	181319	140431977	40483283	74	17903											
PCDHB16	57717	genome.wustl.edu	37	chr5	140563423	140563423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagatatggggactccaaGgctgaaaacggagcacaaca	16	4	11	10	1	0	2	0	1	0	1	1	4	1	4	1	4	3	2	1	4	5	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:140563423G>A	ENST00000361016.2	+	1	2444	c.1289G>A	c.(1288-1290)aGg>aAg	p.R430K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	430	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGACTCCAAGGCTGAAAACG	0.483																																																	0													111	108	109					5																	140563423		2203	4300	6503	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1289G>A	5.37:g.140563423G>A	ENSP00000354293:p.Arg430Lys		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R430K	ENST00000361016.2	37	c.1289	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	G	9.839	1.190456	0.21954	.	.	ENSG00000196963	ENST00000361016	T	0.51325	0.71	4.3	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.52645	0.1747	M	0.84326	2.69	0.25095	N	0.990827	B;B	0.22480	0.002;0.07	B;B	0.33690	0.005;0.168	T	0.50092	-0.8868	9	0.34782	T	0.22	.	7.5879	0.28004	0.0901:0.1683:0.7415:0.0	.	120;430	O15199;Q9NRJ7	.;PCDBG_HUMAN	K	430	ENSP00000354293:R430K	ENSP00000354293:R430K	R	+	2	0	PCDHB16	140543607	0.008000	0.16893	0.617000	0.29091	0.003000	0.03518	1.701000	0.37825	0.772000	0.33382	-0.283000	0.09986	AGG	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196963		0.483	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	-	0	74	0	G	NM_020957		140563423	1	tier1	-	no_errors	ENST00000361016	ensembl	human	known	74_37	missense	55.81	18	24	SNP	0.840	A	A	140563423	G	A	140563423	3	1	65	1	0	0	0	0	1	0	0	0	11580	1000	35	3	1291	3	PCDHB16	5	140563423	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	131446	140563423	40351837	75	17904											
DPYSL3	1809	genome.wustl.edu	37	chr5	146804484	146804484	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagcataaaaggactgatCatcattgacgattctgcctc	13	11	7	10	1	4	2	3	2	1	0	5	4	4	3	1	1	2	1	1	1	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:146804484C>G	ENST00000398514.3	-	2	453	c.82G>C	c.(82-84)Gat>Cat	p.D28H	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.D142H	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	28					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGACTGATCATCATTGACG	0.358																																																	0													137	125	129					5																	146804484		1888	4115	6003	SO:0001583	missense	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.82G>C	5.37:g.146804484C>G	ENSP00000381526:p.Asp28His		B3SXQ8|Q93012	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.D28H	ENST00000398514.3	37	c.82	CCDS43381.1	5	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881577	0.91740	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.87256	-2.17;-2.23;-2.22	5.24	5.24	0.73138	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	D	0.94894	0.8050	10	0.87932	D	0	-6.8105	19.1805	0.93622	0.0:1.0:0.0:0.0	.	142;28	B3SXQ8;Q14195	.;DPYL3_HUMAN	H	28;142;28	ENSP00000381526:D28H;ENSP00000343690:D142H;ENSP00000426720:D28H	ENSP00000343690:D142H	D	-	1	0	DPYSL3	146784677	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.602000	0.87976	0.563000	0.77884	GAT	DPYSL3	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.358	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2	-	0	28	0	C	NM_001387		146804484	-1	tier1	-	no_errors	ENST00000398514	ensembl	human	known	74_37	missense	71.43	2	5	SNP	1.000	G	G	146804484	C	G	146804484	3	3	65	1	0	0	0	0	1	0	0	0	4762	826	29	5	1682	5	DPYSL3	5	146804484	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	6241061	146804484	34110776	76	17905											
CSNK1A1	1452	genome.wustl.edu	37	chr5	148899860	148899860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatttgactaaccttattaCagtgacgcccaatacccatt	12	12	5	12	1	0	2	0	2	0	0	0	2	0	2	3	0	3	1	3	0	5	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:148899860C>T	ENST00000377843.2	-	4	928	c.449G>A	c.(448-450)tGt>tAt	p.C150Y	CSNK1A1_ENST00000515435.1_Missense_Mutation_p.C61Y|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.C61Y|CSNK1A1_ENST00000261798.5_Missense_Mutation_p.C150Y|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.C150Y	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AACCTTATTACAGTGACGCCC	0.323																																					Colon(5;64 69 1309 10383)												0													93	95	94					5																	148899860		2177	4291	6468	SO:0001583	missense	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"clock regulator kinase"	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.449G>A	5.37:g.148899860C>T	ENSP00000367074:p.Cys150Tyr		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.C150Y	ENST00000377843.2	37	c.449	CCDS47303.1	5	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822222	0.32237	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000504676;ENST00000515435;ENST00000322237;ENST00000515768	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.62221	0.2410	L	0.47016	1.485	0.80722	D	1	B;B;B;B;B;B	0.23058	0.001;0.006;0.001;0.011;0.079;0.007	B;B;B;B;B;B	0.30105	0.035;0.02;0.014;0.048;0.111;0.014	T	0.57688	-0.7768	10	0.48119	T	0.1	.	19.933	0.97127	0.0:1.0:0.0:0.0	.	61;61;150;150;150;61	B4DER9;E7ETM0;Q71TU5;P48729;P48729-2;D6REM4	.;.;.;KC1A_HUMAN;.;.	Y	150;150;61;61;150;150	ENSP00000261798:C150Y;ENSP00000367074:C150Y;ENSP00000426747:C61Y;ENSP00000427031:C61Y;ENSP00000421689:C150Y	ENSP00000261798:C150Y	C	-	2	0	CSNK1A1	148880053	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.729000	0.84864	2.711000	0.92665	0.655000	0.94253	TGT	CSNK1A1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000113712		0.323	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		-	0	32	0	C	NM_001892		148899860	-1	tier1	-	no_errors	ENST00000515768	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	T	T	148899860	C	T	148899860	3	4	65	1	0	0	0	0	1	0	0	0	3959	478	17	3	680	3	CSNK1A1	5	148899860	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	2095376	148899860	32015400	77	17906											
GRIA1	2890	genome.wustl.edu	37	chr5	153035396	153035396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagattataaagctagagaaGaatggcatcggctaccacta	16	9	9	7	1	0	3	0	0	0	3	1	4	0	3	1	2	2	3	1	2	9	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:153035396G>C	ENST00000285900.5	+	5	1006	c.663G>C	c.(661-663)aaG>aaC	p.K221N	GRIA1_ENST00000521843.2_Missense_Mutation_p.K152N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K231N|GRIA1_ENST00000340592.5_Missense_Mutation_p.K221N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K141N|GRIA1_ENST00000448073.4_Missense_Mutation_p.K231N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	221					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGCTAGAGAAGAATGGCATCG	0.433																																																	0													128	117	121					5																	153035396		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.663G>C	5.37:g.153035396G>C	ENSP00000285900:p.Lys221Asn		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K231N	ENST00000285900.5	37	c.693	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285447	0.40394	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66;-1.66;-1.66	4.74	3.85	0.44370	Extracellular ligand-binding receptor (1);	0.047273	0.85682	D	0.000000	T	0.77678	0.4166	L	0.61218	1.895	0.54753	D	0.99998	B;B;B;B;B;B	0.14805	0.009;0.009;0.005;0.009;0.003;0.011	B;B;B;B;B;B	0.23018	0.012;0.012;0.012;0.012;0.004;0.043	T	0.75405	-0.3329	10	0.52906	T	0.07	.	5.3254	0.15903	0.2773:0.0:0.7227:0.0	.	231;231;141;231;221;221	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	N	221;221;141;175;221;152;152;231;231	ENSP00000285900:K221N;ENSP00000427920:K141N;ENSP00000339343:K221N;ENSP00000427864:K152N;ENSP00000442108:K152N;ENSP00000428994:K231N;ENSP00000415569:K231N	ENSP00000285900:K221N	K	+	3	2	GRIA1	153015589	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.078000	0.41567	2.339000	0.79563	0.551000	0.68910	AAG	GRIA1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000155511		0.433	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0	60	0	G			153035396	1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	27.12	43	16	SNP	1.000	C	C	153035396	G	C	153035396	3	2	65	1	0	0	0	0	1	0	0	0	6794	933	33	5	681	5	GRIA1	5	153035396	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	4135536	153035396	27879864	78	17907											
RANBP17	64901	genome.wustl.edu	37	chr5	170351515	170351515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attaccaaaaacttctgcatCcatattctggtgtaactgtg	12	14	6	9	0	2	0	0	0	2	0	3	0	3	0	2	1	4	2	2	1	5	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:170351515C>T	ENST00000523189.1	+	12	1593	c.1429C>T	c.(1429-1431)Cca>Tca	p.P477S		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	477					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACTTCTGCATCCATATTCTGG	0.368			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													156	139	145					5																	170351515		2203	4300	6503	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1429C>T	5.37:g.170351515C>T	ENSP00000427975:p.Pro477Ser		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.P477S	ENST00000523189.1	37	c.1429	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	c	2.337	-0.352076	0.05173	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.21191	2.02	6.16	-1.68	0.08212	Armadillo-type fold (1);	0.639474	0.14695	N	0.303903	T	0.03871	0.0109	N	0.01081	-1.03	0.26304	N	0.977936	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	10	0.02654	T	1	-1.9979	3.085	0.06275	0.2203:0.0636:0.3411:0.375	.	477	Q9H2T7	RBP17_HUMAN	S	477;373	ENSP00000427975:P477S	ENSP00000373770:P477S	P	+	1	0	RANBP17	170284120	1.000000	0.71417	0.579000	0.28588	0.687000	0.40016	2.518000	0.45537	-0.098000	0.12285	-0.300000	0.09419	CCA	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.368	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1		0	30	0	C	NM_022897		170351515	1			no_errors	ENST00000523189	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.981	T	T	170351515	C	T	170351515	3	4	65	1	0	0	0	0	1	0	0	0	13072	855	30	3	1475	3	RANBP17	5	170351515	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	17316119	170351515	10563745	79	17908											
FAM153B	202134	genome.wustl.edu	37	chr5	175528580	175528580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacccagacacactggcCgaacgtacgtattctgggat	10	7	13	11	3	1	1	0	0	1	1	1	4	1	3	2	4	2	2	2	4	3	3	rs370575687	byFrequency	TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:175528580C>T	ENST00000253490.4	+	12	717	c.660C>T	c.(658-660)gcC>gcT	p.A220A	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000510151.1_Silent_p.A143A|FAM153B_ENST00000515817.1_Silent_p.A143A			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	220										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		ACACACTGGCCGAACGTACGT	0.463													c|||	3	0.000599042	0.0023	0	5008	,	,		26052	0		0	False		,,,				2504	0																0								C		4,4402	8.1+/-20.4	0,4,2199	133	143	140		660	-1.1	0	5		140	0,8600		0,0,4300	no	coding-synonymous	FAM153B	NM_001079529.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		220/388	175528580	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.660C>T	5.37:g.175528580C>T			A8MTI1	Silent	SNP	prints_FAM153	p.A220	ENST00000253490.4	37	c.660		5																																																																																			FAM153B	-	NULL	ENSG00000182230		0.463	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		-	0	91	0	C	NM_001079529		175528580	1	tier1	-	no_errors	ENST00000253490	ensembl	human	known	74_37	silent	40.98	36	25	SNP	0.000	T	T	175528580	C	T	175528580	2	4	65	1	0	0	0	0	0	0	0	1	5480	639	23	1		1	FAM153B	5	175528580	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	5177065	175528580	5386680	80	17909											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178770946	178770946	+	Frame_Shift_Del	DEL	T	T	-																															gccgcagccgcaggtgcaggTctcggccaaagaccgtgaca																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr5:178770946delT	ENST00000251582.7	-	2	457	c.356delA	c.(355-357)gacfs	p.D119fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.D119fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	119					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGGTGCAGGTCTCGGCCAAA	0.721																																																	0													14	17	16					5																	178770946		2191	4291	6482	SO:0001589	frameshift_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.356delA	5.37:g.178770946delT	ENSP00000251582:p.Asp119fs			Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.D119fs	ENST00000251582.7	37	c.356	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_Peptidase_M12B_N	ENSG00000087116		0.721	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1		0	12	0	T	NM_014244		178770946	-1	tier1		no_errors	ENST00000251582	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	-	-	178770946	T	-	178770946	7	5	65	1	0	1	0	1	0	0	0	0	265	1667	58	0	3438	0	ADAMTS2	5	178770946	Frame_Shift_Del	DEL	T	TCGA-L5-A4OR-01A-11D-A27G-09	3242366	178770946	2144314	81	17910											
OR2J3	442186	genome.wustl.edu	37	chr6	29080410	29080410	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaacatgtggagctcatcTtatggctgtatctctctttt	7	17	9	8	0	4	0	1	0	3	0	5	2	4	2	0	3	2	3	0	3	3	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:29080410T>G	ENST00000377169.1	+	1	743	c.743T>G	c.(742-744)cTt>cGt	p.L248R		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GGAGCTCATCTTATGGCTGTA	0.453																																																	0													117	120	119					6																	29080410		1267	2578	3845	SO:0001583	missense	0				CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"GPCR / Class A : Olfactory receptors"	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.743T>G	6.37:g.29080410T>G	ENSP00000366374:p.Leu248Arg		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L248R	ENST00000377169.1	37	c.743	CCDS43433.1	6	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933827	0.34096	.	.	ENSG00000204701	ENST00000377169	T	0.51325	0.71	2.46	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72938	0.3523	H	0.98446	4.235	0.43242	D	0.995158	D	0.63880	0.993	D	0.76071	0.987	T	0.80341	-0.1423	9	0.87932	D	0	.	10.2503	0.43364	0.0:0.0:0.0:1.0	.	248	O76001	OR2J3_HUMAN	R	248	ENSP00000366374:L248R	ENSP00000366374:L248R	L	+	2	0	OR2J3	29188389	0.952000	0.32445	0.668000	0.29813	0.085000	0.17905	6.004000	0.70709	1.121000	0.41925	0.358000	0.22013	CTT	OR2J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000204701		0.453	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J3	HGNC	protein_coding	OTTHUMT00000076132.2	-	0	80	0	T			29080410	1	tier1	-	no_errors	ENST00000377169	ensembl	human	known	74_37	missense	18.75	78	18	SNP	0.979	G	G	29080410	T	G	29080410	3	3	65	1	0	0	0	0	1	0	0	0	11043	1609	56	4	745	4	OR2J3	6	29080410	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09		29080410	142034657	82	17911											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33409093	33409093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagggttacatcgacttggGccgagagctctccacactgc	8	9	12	12	2	1	2	0	1	1	1	3	4	1	2	2	2	3	2	2	2	1	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:33409093G>A	ENST00000418600.2	+	12	2158	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.G627D|MIR5004_ENST00000579078.1_RNA|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.G686D|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	686					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ATCGACTTGGGCCGAGAGCTC	0.557																																																	0													123	101	108					6																	33409093		2203	4300	6503	SO:0001583	missense	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2057G>A	6.37:g.33409093G>A	ENSP00000403636:p.Gly686Asp		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.G686D	ENST00000418600.2	37	c.2057	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871994	0.91587	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17691	2.26;2.26;2.26	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.996	T	0.52793	-0.8528	10	0.87932	D	0	.	15.7048	0.77569	0.0:0.0:1.0:0.0	.	686;686;686	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	D	686;686;686;627	ENSP00000293748:G686D;ENSP00000403636:G686D;ENSP00000412475:G627D	ENSP00000293748:G686D	G	+	2	0	SYNGAP1	33517071	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.657000	0.98554	2.573000	0.86826	0.655000	0.94253	GGC	SYNGAP1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000197283		0.557	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4		0	46	0	G	XM_166407		33409093	1			no_errors	ENST00000418600	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A	A	33409093	G	A	33409093	3	1	65	1	0	0	0	0	1	0	0	0	15494	1203	42	3	2103	3	SYNGAP1	6	33409093	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	4328683	33409093	137705974	83	17912											
RNF8	9025	genome.wustl.edu	37	chr6	37342482	37342482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagaattagagcagacCaaggtactggaaagaagatg	20	5	11	5	0	0	5	0	0	0	5	0	6	0	6	1	2	3	2	1	2	8	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:37342482C>T	ENST00000373479.4	+	5	1318	c.1125C>T	c.(1123-1125)acC>acT	p.T375T	RNF8_ENST00000469731.1_Silent_p.T375T	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	375					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TAGAGCAGACCAAGGTACTGG	0.398																																																	0													99	93	95					6																	37342482		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"RING-type (C3HC4) zinc fingers"	10071	protein-coding gene	gene with protein product		611685	"ring finger protein (C3HC4 type) 8", "ring finger protein 8"			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.1125C>T	6.37:g.37342482C>T			A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	pfam_FHA_dom,pfam_Znf_C3HC4_RING-type,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pirsf_E3_Ub_ligase_RNF8,pfscan_FHA_dom,pfscan_Znf_RING	p.T375	ENST00000373479.4	37	c.1125	CCDS4834.1	6																																																																																			RNF8	-	pirsf_E3_Ub_ligase_RNF8	ENSG00000112130		0.398	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF8	HGNC	protein_coding	OTTHUMT00000040403.2	-	0	36	0	C			37342482	1	tier1	-	no_errors	ENST00000373479	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T	T	37342482	C	T	37342482	2	4	65	1	0	0	0	0	0	0	0	1	13545	581	21	3		3	RNF8	6	37342482	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	3933389	37342482	133772585	84	17913											
ABCC10	89845	genome.wustl.edu	37	chr6	43400126	43400126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccggggtcccttggccttGgccctggtagccttgctgcc	1	11	13	16	1	0	0	0	0	0	0	2	0	2	0	6	5	3	2	6	5	1	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:43400126G>A	ENST00000372530.4	+	3	623	c.408G>A	c.(406-408)ttG>ttA	p.L136L	ABCC10_ENST00000244533.3_Silent_p.L93L|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	136					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTTGGCCTTGGCCCTGGTAG	0.662																																																	0													54	53	53					6																	43400126		2203	4300	6503	SO:0001819	synonymous_variant	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"ATP binding cassette transporters / subfamily C"	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.408G>A	6.37:g.43400126G>A			Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L136	ENST00000372530.4	37	c.408	CCDS56430.1	6																																																																																			ABCC10	-	NULL	ENSG00000124574		0.662	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	-	0	34	0	G	NM_033450		43400126	1	tier1	-	no_errors	ENST00000372530	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.975	A	A	43400126	G	A	43400126	2	1	65	1	0	0	0	0	0	0	0	1	50	1339	47	3		3	ABCC10	6	43400126	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	6057644	43400126	127714941	85	17914											
SIM1	6492	genome.wustl.edu	37	chr6	100841708	100841708	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccgtgtcggtcaagggacTtccgccccactggctgtcat	5	9	13	14	3	2	0	2	0	0	0	4	1	3	1	4	4	0	1	4	4	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:100841708T>G	ENST00000369208.3	-	11	2007	c.1225A>C	c.(1225-1227)Agt>Cgt	p.S409R	SIM1_ENST00000262901.4_Missense_Mutation_p.S409R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	409	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCAAGGGACTTCCGCCCCAC	0.552																																																	0													40	39	39					6																	100841708		2203	4300	6503	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1225A>C	6.37:g.100841708T>G	ENSP00000358210:p.Ser409Arg		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.S409R	ENST00000369208.3	37	c.1225	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	T	32	5.129139	0.94473	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.42131	0.98;0.98	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44685	0.1305	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.41016	-0.9532	10	0.42905	T	0.14	.	16.1062	0.81223	0.0:0.0:0.0:1.0	.	409	P81133	SIM1_HUMAN	R	409	ENSP00000358210:S409R;ENSP00000262901:S409R	ENSP00000262901:S409R	S	-	1	0	SIM1	100948429	1.000000	0.71417	0.923000	0.36655	0.991000	0.79684	7.698000	0.84413	2.205000	0.71048	0.533000	0.62120	AGT	SIM1	-	pfam_SIM_C	ENSG00000112246		0.552	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	-	0	8	0	T	NM_005068		100841708	-1	tier1	-	no_errors	ENST00000262901	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.998	G	G	100841708	T	G	100841708	3	3	65	1	0	0	0	0	1	0	0	0	14368	1609	56	4	1083	4	SIM1	6	100841708	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	57441582	100841708	70273359	86	17915											
MAN1A1	4121	genome.wustl.edu	37	chr6	119501086	119501086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtggaagaagatcgtcGtcagaaaatattaggtacaa	16	9	10	6	2	1	3	1	0	0	3	4	4	2	4	1	2	1	1	1	2	8	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:119501086G>A	ENST00000368468.3	-	13	2301	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	620					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GAAGATCGTCGTCAGAAAATA	0.418																																					Ovarian(136;8 1825 12608 33541 47587)												0													88	90	89					6																	119501086		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1860C>T	6.37:g.119501086G>A			E7EU32|Q6P052|Q9NU44|Q9UJI3	Silent	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.D620	ENST00000368468.3	37	c.1860	CCDS5122.1	6																																																																																			MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000111885		0.418	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1		0	22	0	G	NM_005907		119501086	-1			no_errors	ENST00000368468	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.896	A	A	119501086	G	A	119501086	2	1	65	1	0	0	0	0	0	0	0	1	9248	1136	40	1		1	MAN1A1	6	119501086	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	18659378	119501086	51613981	87	17916											
HIVEP2	3097	genome.wustl.edu	37	chr6	143095791	143095791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttaataacagctgattgttCctgtctccatctacctgatg	9	15	6	11	0	2	2	0	2	2	0	4	2	3	2	3	0	3	2	3	0	3	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:143095791C>T	ENST00000367604.1	-	4	724	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	HIVEP2_ENST00000367603.2_Missense_Mutation_p.E29K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E29K			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCTGATTGTTCCTGTCTCCAT	0.458																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													212	207	209					6																	143095791		2026	4198	6224	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.85G>A	6.37:g.143095791C>T	ENSP00000356576:p.Glu29Lys		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E29K	ENST00000367604.1	37	c.85	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520305	0.85495	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03212	4.01;4.01;4.01	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	L	0.56769	1.78	0.53688	D	0.999973	D	0.58268	0.982	P	0.56088	0.791	T	0.09100	-1.0690	10	0.51188	T	0.08	-27.1807	19.8917	0.96932	0.0:1.0:0.0:0.0	.	29	P31629	ZEP2_HUMAN	K	29	ENSP00000356576:E29K;ENSP00000356575:E29K;ENSP00000012134:E29K	ENSP00000012134:E29K	E	-	1	0	HIVEP2	143137484	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.828000	0.75308	2.776000	0.95493	0.650000	0.86243	GAA	HIVEP2	-	NULL	ENSG00000010818		0.458	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	-	0	64	0	C			143095791	-1	tier1	-	no_errors	ENST00000012134	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	T	T	143095791	C	T	143095791	3	4	65	1	0	0	0	0	1	0	0	0	7214	864	30	3	7279	3	HIVEP2	6	143095791	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	23594705	143095791	28019276	88	17917											
LPA	4018	genome.wustl.edu	37	chr6	161015105	161015105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcgataactctgtccatCaccatggtagcaatcctgga	10	10	8	13	1	2	0	1	0	1	0	5	2	4	1	4	2	2	2	4	2	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr6:161015105C>T	ENST00000316300.5	-	22	3558	c.3514G>A	c.(3514-3516)Gat>Aat	p.D1172N	LPA_ENST00000447678.1_Missense_Mutation_p.D1172N			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3680	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTCTGTCCATCACCATGGTAG	0.483																																																	0													136	137	137					6																	161015105		2065	4255	6320	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3514G>A	6.37:g.161015105C>T	ENSP00000321334:p.Asp1172Asn		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.D1172N	ENST00000316300.5	37	c.3514	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	0	-2.627253	0.00117	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.60171	0.21;0.21	2.56	-0.923	0.10465	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.16257	0.0391	N	0.03115	-0.41	0.09310	N	1	B	0.19200	0.034	B	0.41894	0.369	T	0.52305	-0.8593	9	0.15952	T	0.53	.	5.2389	0.15462	0.0:0.4122:0.0:0.5878	.	3680	P08519	APOA_HUMAN	N	1172	ENSP00000321334:D1172N;ENSP00000395608:D1172N	ENSP00000321334:D1172N	D	-	1	0	LPA	160935095	0.674000	0.27549	0.000000	0.03702	0.036000	0.12997	1.234000	0.32660	-0.353000	0.08224	0.436000	0.28706	GAT	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	129	0	C	NM_005577		161015105	-1	tier1	-	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	30.71	97	43	SNP	0.001	T	T	161015105	C	T	161015105	3	4	65	1	0	0	0	0	1	0	0	0	8938	826	29	3	2680	3	LPA	6	161015105	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	17919314	161015105	10099962	89	17918											
SLC29A4	222962	genome.wustl.edu	37	chr7	5330775	5330775	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctccatcgtgtttgacAtgagcctcacctacatcttg	8	12	8	13	1	2	2	1	2	1	0	4	3	3	3	4	1	2	1	4	1	1	3	rs149798710		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:5330775A>G	ENST00000396872.3	+	4	483	c.322A>G	c.(322-324)Atg>Gtg	p.M108V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.M108V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.M108V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	108					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CGTGTTTGACATGAGCCTCAC	0.617																																																	0								A	VAL/MET,VAL/MET	0,4406		0,0,2203	101	86	91		322,322	3.3	1	7	dbSNP_134	91	1,8599		0,1,4299	no	missense,missense	SLC29A4	NM_001040661.1,NM_153247.2	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	108/531,108/531	5330775	1,13005	2203	4300	6503	SO:0001583	missense	0			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.322A>G	7.37:g.5330775A>G	ENSP00000380081:p.Met108Val		Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.M108V	ENST00000396872.3	37	c.322	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	17.09	3.301308	0.60195	0.0	1.16E-4	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.5	3.29	0.37713	Major facilitator superfamily domain, general substrate transporter (1);	0.090555	0.85682	D	0.000000	T	0.34774	0.0909	M	0.80183	2.485	0.50813	D	0.999894	P;P	0.46859	0.885;0.848	B;B	0.40702	0.31;0.338	T	0.22871	-1.0204	10	0.59425	D	0.04	-12.217	9.4134	0.38505	0.8201:0.1799:0.0:0.0	.	108;108	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	V	108	ENSP00000406803:M108V;ENSP00000380081:M108V;ENSP00000413271:M108V;ENSP00000297195:M108V;ENSP00000385845:M108V	ENSP00000297195:M108V	M	+	1	0	SLC29A4	5297301	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.035000	0.49759	0.554000	0.29061	0.454000	0.30748	ATG	SLC29A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000164638		0.617	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	-	0	51	0	A	NM_153247		5330775	1	tier1	rs149798710	no_errors	ENST00000297195	ensembl	human	known	74_37	missense	13.33	65	10	SNP	1.000	G	G	5330775	A	G	5330775	3	3	65	1	0	0	0	0	1	0	0	0	14582	217	8	4	332	4	SLC29A4	7	5330775	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09		5330775	153807888	90	17919											
HERPUD2	64224	genome.wustl.edu	37	chr7	35707194	35707194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttgatcctgaatgatctGaactctacaaataaaaatgt	15	14	6	6	0	2	4	0	4	2	0	3	4	3	4	1	0	2	1	1	0	7	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:35707194G>A	ENST00000396081.1	-	4	1148	c.344C>T	c.(343-345)tCa>tTa	p.S115L	HERPUD2_ENST00000311350.3_Missense_Mutation_p.S115L|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	115	Ser-rich.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGAATGATCTGAACTCTACAA	0.358																																																	0													70	67	68					7																	35707194		2203	4300	6503	SO:0001583	missense	0			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.344C>T	7.37:g.35707194G>A	ENSP00000379390:p.Ser115Leu		A4D1Y8|Q9H6F9	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.S115L	ENST00000396081.1	37	c.344	CCDS5446.1	7	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882895	0.51908	.	.	ENSG00000122557	ENST00000396081;ENST00000311350;ENST00000438224;ENST00000413517;ENST00000427455	T;T;T;T;T	0.40225	2.71;2.71;1.04;1.79;1.04	5.26	5.26	0.73747	.	0.493182	0.22698	N	0.056727	T	0.29914	0.0748	N	0.22421	0.69	0.40924	D	0.984336	B	0.06786	0.001	B	0.04013	0.001	T	0.07927	-1.0747	10	0.36615	T	0.2	-11.8647	12.6864	0.56949	0.0862:0.0:0.9138:0.0	.	115	Q9BSE4	HERP2_HUMAN	L	115;115;51;89;51	ENSP00000379390:S115L;ENSP00000310729:S115L;ENSP00000415475:S51L;ENSP00000391015:S89L;ENSP00000412895:S51L	ENSP00000310729:S115L	S	-	2	0	HERPUD2	35673719	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.086000	0.50159	2.448000	0.82819	0.655000	0.94253	TCA	HERPUD2	-	NULL	ENSG00000122557		0.358	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	-	0	44	0	G	NM_022373		35707194	-1	tier1	-	no_errors	ENST00000311350	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	A	A	35707194	G	A	35707194	3	1	65	1	0	0	0	0	1	0	0	0	7091	1294	45	3	896	3	HERPUD2	7	35707194	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	30376419	35707194	123431469	91	17920											
AOAH	313	genome.wustl.edu	37	chr7	36657928	36657928	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatttcttctcatatggAactccatcttttggatcgac	10	15	6	10	1	3	1	1	0	3	1	6	4	4	3	1	2	1	0	1	2	3	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:36657928A>G	ENST00000258749.5	-	10	1125	c.726T>C	c.(724-726)gtT>gtC	p.V242V	AOAH_ENST00000535891.1_Silent_p.V210V|AOAH_ENST00000431169.1_Silent_p.V242V	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	242					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTCATATGGAACTCCATCTT	0.328																																																	0													113	107	109					7																	36657928		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.726T>C	7.37:g.36657928A>G			A4D1Y5|B7Z490|Q53F13	Silent	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.V242	ENST00000258749.5	37	c.726	CCDS5448.1	7																																																																																			AOAH	-	NULL	ENSG00000136250		0.328	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	-	0	33	0	A	NM_001637		36657928	-1	tier1	-	no_errors	ENST00000258749	ensembl	human	known	74_37	silent	40.32	37	25	SNP	0.993	G	G	36657928	A	G	36657928	2	3	65	1	0	0	0	0	0	0	0	1	726	233	9	4		4	AOAH	7	36657928	Silent	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	950734	36657928	122480735	92	17921											
VWC2	375567	genome.wustl.edu	37	chr7	49815635	49815635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacccgcgctgcatccacGtcgacacgagccagtgctgc	7	6	11	17	5	0	0	0	0	0	0	2	2	1	0	3	0	5	4	3	0	0	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:49815635G>A	ENST00000340652.4	+	2	1160	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	202	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						CTGCATCCACGTCGACACGAG	0.672																																																	0													13	18	16					7																	49815635		2149	4228	6377	SO:0001583	missense	0			AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"brorin", "brain-specific chordin-like"	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.604G>A	7.37:g.49815635G>A	ENSP00000341819:p.Val202Ile		Q6UXE2	Missense_Mutation	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.V202I	ENST00000340652.4	37	c.604	CCDS5508.1	7	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570472	0.65765	.	.	ENSG00000188730	ENST00000340652	T	0.15834	2.39	4.81	4.81	0.61882	von Willebrand factor, type C (1);	0.000000	0.64402	D	0.000001	T	0.10594	0.0259	N	0.14661	0.345	0.51233	D	0.999916	B	0.33826	0.427	B	0.25291	0.059	T	0.20472	-1.0274	10	0.25751	T	0.34	.	18.301	0.90163	0.0:0.0:1.0:0.0	.	202	Q2TAL6	VWC2_HUMAN	I	202	ENSP00000341819:V202I	ENSP00000341819:V202I	V	+	1	0	VWC2	49786181	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.549000	0.73900	2.379000	0.81126	0.555000	0.69702	GTC	VWC2	-	smart_VWF_C	ENSG00000188730		0.672	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWC2	HGNC	protein_coding	OTTHUMT00000251375.2	-	0	18	0	G	NM_198570		49815635	1	tier1	-	no_errors	ENST00000340652	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A	A	49815635	G	A	49815635	3	1	65	1	0	0	0	0	1	0	0	0	17292	1145	40	1	606	1	VWC2	7	49815635	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	13157707	49815635	109323028	93	17922											
ASL	435	genome.wustl.edu	37	chr7	65552335	65552335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagtggggccattgcagGcaatcccctgggtgtggacc	6	8	15	12	0	0	0	0	0	0	0	1	1	1	1	4	5	2	3	4	5	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:65552335G>T	ENST00000304874.9	+	9	719	c.617G>T	c.(616-618)gGc>gTc	p.G206V	AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395332.3_Missense_Mutation_p.G206V|ASL_ENST00000380839.4_Missense_Mutation_p.G180V|ASL_ENST00000395331.3_Missense_Mutation_p.G206V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	206					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCCATTGCAGGCAATCCCCTG	0.632																																																	0													81	67	72					7																	65552335		2203	4300	6503	SO:0001583	missense	0				CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.617G>T	7.37:g.65552335G>T	ENSP00000307188:p.Gly206Val		E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase	p.G206V	ENST00000304874.9	37	c.617	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	g	25.3	4.626049	0.87560	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99714	-6.5;-6.5;-6.5;-6.5;-6.5	5.72	5.72	0.89469	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	H	0.98849	4.35	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.85130	0.98;0.997;0.997	D	0.96579	0.9429	10	0.87932	D	0	.	17.0211	0.86434	0.0:0.0:1.0:0.0	.	180;206;206	E9PE48;E7EMI0;P04424	.;.;ARLY_HUMAN	V	206;180;206;141;206	ENSP00000307188:G206V;ENSP00000370219:G180V;ENSP00000378741:G206V;ENSP00000354710:G141V;ENSP00000378740:G206V	ENSP00000307188:G206V	G	+	2	0	ASL	65189770	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.864000	0.87037	2.700000	0.92200	0.561000	0.74099	GGC	ASL	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase	ENSG00000126522		0.632	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	HGNC	protein_coding	OTTHUMT00000251695.2	-	0	36	0	G	NM_000048		65552335	1	tier1	-	no_errors	ENST00000304874	ensembl	human	known	74_37	missense	9.30	116	12	SNP	1.000	T	T	65552335	G	T	65552335	3	4	65	1	0	0	0	0	1	0	0	0	1045	1203	42	3	647	3	ASL	7	65552335	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	15736700	65552335	93586328	94	17923											
ADAM22	53616	genome.wustl.edu	37	chr7	87810916	87810916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgacctcgaagtaactcttgGcaaggtagaggctggcattc	10	9	12	10	2	1	1	0	0	1	1	3	3	1	1	1	4	1	5	1	4	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:87810916G>T	ENST00000265727.7	+	28	2584	c.2505G>T	c.(2503-2505)tgG>tgT	p.W835C	ADAM22_ENST00000315984.7_Missense_Mutation_p.W799C|ADAM22_ENST00000398204.4_Missense_Mutation_p.W799C|ADAM22_ENST00000398201.4_Missense_Mutation_p.W835C|ADAM22_ENST00000398209.3_Missense_Mutation_p.W799C			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	835					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTAACTCTTGGCAAGGTAGAG	0.418																																																	0													73	65	68					7																	87810916		1850	4104	5954	SO:0001583	missense	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2505G>T	7.37:g.87810916G>T	ENSP00000265727:p.Trp835Cys		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.W835C	ENST00000265727.7	37	c.2505	CCDS47637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.63|19.63	3.863240|3.863240	0.71949|0.71949	.|.	.|.	ENSG00000008277|ENSG00000008277	ENST00000413139|ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	.|T;T;T;T;T;T;T	.|0.55234	.|4.43;3.71;4.13;4.17;4.22;3.81;0.53	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69061|0.69061	0.3069|0.3069	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999	T|T	0.68462|0.68462	-0.5402|-0.5402	5|10	.|0.59425	.|D	.|0.04	.|.	20.004|20.004	0.97428|0.97428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|887;799;835;799	.|E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.|.;.;ADA22_HUMAN;.	S|C	164|799;835;835;799;799;802;193	.|ENSP00000381262:W799C;ENSP00000381260:W835C;ENSP00000265727:W835C;ENSP00000315900:W799C;ENSP00000381267:W799C;ENSP00000381261:W802C;ENSP00000396233:W193C	.|ENSP00000265727:W835C	A|W	+|+	1|3	0|0	ADAM22|ADAM22	87648852|87648852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.476000|9.476000	0.97823|0.97823	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GCA|TGG	ADAM22	-	NULL	ENSG00000008277		0.418	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0	15	0	G	NM_021723		87810916	1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	T	T	87810916	G	T	87810916	3	4	65	1	0	0	0	0	1	0	0	0	244	1212	42	3	2615	3	ADAM22	7	87810916	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	22258581	87810916	71327747	95	17924											
COPS6	10980	genome.wustl.edu	37	chr7	99688276	99688276	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgaccaagcacacagAtgtgagtaatactccatgcc	13	8	7	13	0	0	3	0	2	0	1	1	3	1	3	4	0	3	2	4	0	4	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:99688276A>G	ENST00000303904.3	+	5	522	c.485A>G	c.(484-486)gAt>gGt	p.D162G	MIR25_ENST00000384816.1_RNA|COPS6_ENST00000418625.1_Splice_Site_p.D161G	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	162					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAGCACACAGATGTGAGTAAT	0.498																																																	0													132	120	124					7																	99688276		2203	4300	6503	SO:0001630	splice_region_variant	0			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.486+1A>G	7.37:g.99688276A>G			A4D2A3|O15387	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.D162G	ENST00000303904.3	37	c.485	CCDS5682.1	7	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253337	0.80135	.	.	ENSG00000168090	ENST00000303904;ENST00000418625	T;T	0.44881	0.91;0.92	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.41994	0.1183	M	0.78223	2.4	0.80722	D	1	P	0.47302	0.893	B	0.40410	0.328	T	0.43032	-0.9416	10	0.10377	T	0.69	-10.7281	13.2215	0.59890	1.0:0.0:0.0:0.0	.	162	Q7L5N1	CSN6_HUMAN	G	162;161	ENSP00000304102:D162G;ENSP00000400617:D161G	ENSP00000304102:D162G	D	+	2	0	COPS6	99526212	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.501000	0.66950	2.217000	0.71921	0.533000	0.62120	GAT	COPS6	-	smart_JAB_MPN_dom	ENSG00000168090		0.498	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3	-	0	57	0	A	NM_006833	Missense_Mutation	99688276	1	tier1	-	no_errors	ENST00000303904	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	G	G	99688276	A	G	99688276	5	3	65	1	0	0	0	0	0	0	1	0	3744	347	12	4	503	4	COPS6	7	99688276	Splice_Site	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	11877360	99688276	59450387	96	17925											
RELN	5649	genome.wustl.edu	37	chr7	103338429	103338429	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcccagcaggcttcataCacttcacctacacgaagatt	13	8	7	13	1	2	1	2	0	0	1	2	2	2	1	2	2	3	2	2	2	4	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:103338429C>A	ENST00000428762.1	-	10	1173	c.1014G>T	c.(1012-1014)gtG>gtT	p.V338V	RELN_ENST00000424685.2_Silent_p.V338V|RELN_ENST00000343529.5_Silent_p.V338V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	338					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGCTTCATACACTTCACCTA	0.458																																					NSCLC(146;835 1944 15585 22231 52158)												0													232	205	214					7																	103338429		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1014G>T	7.37:g.103338429C>A			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.V338	ENST00000428762.1	37	c.1014	CCDS47680.1	7																																																																																			RELN	-	NULL	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	59	0	C	NM_005045		103338429	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	37.61	68	41	SNP	0.997	A	A	103338429	C	A	103338429	2	1	65	1	0	0	0	0	0	0	0	1	13265	465	17	3		3	RELN	7	103338429	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	3650153	103338429	55800234	97	17926											
TMEM168	64418	genome.wustl.edu	37	chr7	112407652	112407652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactctgctccttgcactGcaatatactggtcattaatt	10	15	5	11	0	3	0	2	0	1	0	4	0	4	0	1	1	5	3	1	1	5	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:112407652G>A	ENST00000312814.6	-	5	2254	c.1694C>T	c.(1693-1695)gCa>gTa	p.A565V	TMEM168_ENST00000454074.1_Missense_Mutation_p.A565V	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	565						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TCCTTGCACTGCAATATACTG	0.403																																																	0													100	100	100					7																	112407652		2203	4300	6503	SO:0001583	missense	0				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1694C>T	7.37:g.112407652G>A	ENSP00000323068:p.Ala565Val		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.A565V	ENST00000312814.6	37	c.1694	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416431	0.83449	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000418785	.	.	.	5.71	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.61218	1.895	0.80722	D	1	B	0.33299	0.407	B	0.23852	0.049	T	0.58691	-0.7592	9	0.87932	D	0	-31.0179	14.8863	0.70572	0.069:0.0:0.931:0.0	.	565	Q9H0V1	TM168_HUMAN	V	565;565;181;126	.	ENSP00000323068:A565V	A	-	2	0	TMEM168	112194888	1.000000	0.71417	0.990000	0.47175	0.967000	0.64934	9.808000	0.99193	1.407000	0.46875	0.585000	0.79938	GCA	TMEM168	-	NULL	ENSG00000146802		0.403	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	-	0	35	0	G	NM_022484		112407652	-1	tier1	-	no_errors	ENST00000312814	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	112407652	G	A	112407652	3	1	65	1	0	0	0	0	1	0	0	0	16130	1319	46	3	403	3	TMEM168	7	112407652	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	9069223	112407652	46731011	98	17927											
GRM8	2918	genome.wustl.edu	37	chr7	126882955	126882955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagagcacgtgtcgaggaTgcggacacccagagtgatgt	10	7	14	10	3	0	3	0	1	0	2	1	6	0	5	2	2	2	1	2	2	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr7:126882955T>C	ENST00000339582.2	-	2	1112	c.304A>G	c.(304-306)Atc>Gtc	p.I102V	GRM8_ENST00000405249.1_Missense_Mutation_p.I102V|GRM8_ENST00000444921.2_Missense_Mutation_p.I102V|GRM8_ENST00000358373.3_Missense_Mutation_p.I102V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	102					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTGTCGAGGATGCGGACACCC	0.478										HNSCC(24;0.065)																																							0													119	92	101					7																	126882955		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.304A>G	7.37:g.126882955T>C	ENSP00000344173:p.Ile102Val		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.I102V	ENST00000339582.2	37	c.304	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518285	0.64634	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	6.06	6.06	0.98353	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	M	0.83692	2.655	0.58432	D	0.999992	B;P	0.45011	0.002;0.848	B;P	0.61328	0.005;0.887	T	0.81684	-0.0821	10	0.59425	D	0.04	.	15.8056	0.78506	0.0:0.0:0.0:1.0	.	102;102	O00222-2;O00222	.;GRM8_HUMAN	V	102	ENSP00000344173:I102V;ENSP00000409790:I102V;ENSP00000351142:I102V;ENSP00000385731:I102V;ENSP00000415522:I102V	ENSP00000344173:I102V	I	-	1	0	GRM8	126670191	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.276000	0.72601	2.323000	0.78572	0.528000	0.53228	ATC	GRM8	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000179603		0.478	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0	31	0	T			126882955	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	C	C	126882955	T	C	126882955	3	2	65	1	0	0	0	0	1	0	0	0	6830	1464	51	4	2512	4	GRM8	7	126882955	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	14475303	126882955	32255708	99	17928											
SGK223	157285	genome.wustl.edu	37	chr8	8235035	8235035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcctgctctgcgggcccgGaacacttcccctgctcccag	4	9	9	19	2	2	0	0	0	2	0	5	1	4	1	5	2	4	2	5	2	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:8235035G>A	ENST00000520004.1	-	3	1148	c.884C>T	c.(883-885)tCc>tTc	p.S295F	SGK223_ENST00000330777.4_Missense_Mutation_p.S295F			Q86YV5	SG223_HUMAN		295							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGCGGGCCCGGAACACTTCCC	0.687																																					GBM(34;731 755 10259 33573 33867)												0													15	20	18					8																	8235035		1957	4118	6075	SO:0001583	missense	0																														ENST00000520004.1:c.884C>T	8.37:g.8235035G>A	ENSP00000428054:p.Ser295Phe		Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.S295F	ENST00000520004.1	37	c.884	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	4.510	0.094540	0.08632	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.57595	0.39;0.39	5.02	4.13	0.48395	.	0.694506	0.12395	N	0.472621	T	0.31040	0.0784	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.15954	-1.0419	10	0.52906	T	0.07	.	6.8047	0.23770	0.0995:0.1819:0.7186:0.0	.	295	Q86YV5	SG223_HUMAN	F	295	ENSP00000330930:S295F;ENSP00000428054:S295F	ENSP00000330930:S295F	S	-	2	0	AC068353.1	8272445	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.316000	0.19469	1.210000	0.43336	0.655000	0.94253	TCC	SGK223	-	NULL	ENSG00000182319		0.687	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1	-	0	24	0	G			8235035	-1	tier1	-	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.001	A	A	8235035	G	A	8235035	3	1	65	1	0	0	0	0	1	0	0	0	14255	1174	41	3	3340	3	SGK223	8	8235035	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09		8235035	138128987	100	17929											
USP17L2	377630	genome.wustl.edu	37	chr8	11995298	11995298	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgacaactccacccagcgtgGaccagcacagcatagaggac	13	4	10	14	1	0	2	0	1	0	1	1	4	1	4	3	2	4	2	3	2	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:11995298G>C	ENST00000333796.3	-	1	1288	c.972C>G	c.(970-972)gtC>gtG	p.V324V	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	324	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACCCAGCGTGGACCAGCACAG	0.483																																																	0													12	13	13					8																	11995298		1611	3822	5433	SO:0001819	synonymous_variant	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.972C>G	8.37:g.11995298G>C				Silent	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.V324	ENST00000333796.3	37	c.972	CCDS43713.1	8																																																																																			USP17L2	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000223443		0.483	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	0	84	0	G	NM_201402		11995298	-1	tier1	-	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	11.54	115	15	SNP	0.995	C	C	11995298	G	C	11995298	2	2	65	1	0	0	0	0	0	0	0	1	17097	1161	41	5		5	USP17L2	8	11995298	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	3760263	11995298	134368724	101	17930											
RRS1	23212	genome.wustl.edu	37	chr8	67342324	67342324	+	Frame_Shift_Del	DEL	G	G	-																															agggaggccggcaggggcctGggggcaagaggaaagggggc																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:67342324delG	ENST00000320270.2	+	1	1062	c.958delG	c.(958-960)gggfs	p.G321fs	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000379385.4_5'Flank|ADHFE1_ENST00000415254.1_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	321	Arg/Gly/Lys-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCAGGGGCCTGGGGGCAAGAG	0.642																																																	0													19	25	23					8																	67342324		2201	4291	6492	SO:0001589	frameshift_variant	0			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.958delG	8.37:g.67342324delG	ENSP00000322396:p.Gly321fs		Q9BUX8	Frame_Shift_Del	DEL	pfam_Ribosom_reg	p.G321fs	ENST00000320270.2	37	c.958	CCDS6189.1	8																																																																																			RRS1	-	NULL	ENSG00000179041		0.642	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRS1	HGNC	protein_coding	OTTHUMT00000380126.1		0	9	0	G	NM_015169		67342324	1	tier1		no_errors	ENST00000320270	ensembl	human	known	74_37	frame_shift_del	44.00	14	11	DEL	0.901	-	-	67342324	G	-	67342324	7	5	65	1	0	1	0	1	0	0	0	0	13737	1348	47	0	960	0	RRS1	8	67342324	Frame_Shift_Del	DEL	G	TCGA-L5-A4OR-01A-11D-A27G-09	55347026	67342324	79021698	102	17931											
SGK3	23678	genome.wustl.edu	37	chr8	67748200	67748200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacatattatggctgaacGtaatgtgctcttgaaaaatg	16	12	8	5	1	1	2	0	2	1	0	1	2	1	2	0	1	3	3	0	1	8	4	rs550671159		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:67748200G>A	ENST00000396596.1	+	10	846	c.632G>A	c.(631-633)cGt>cAt	p.R211H	SGK3_ENST00000521198.2_Missense_Mutation_p.R211H|SGK3_ENST00000522398.1_Missense_Mutation_p.R211H|SGK3_ENST00000345714.4_Missense_Mutation_p.R211H|SGK3_ENST00000520976.1_Missense_Mutation_p.R211H|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.R211H	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGGCTGAACGTAATGTGCTC	0.323													G|||	1	0.000199681	0	0	5008	,	,		18261	0.001		0	False		,,,				2504	0																0													121	121	121					8																	67748200		2202	4298	6500	SO:0001583	missense	0				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.632G>A	8.37:g.67748200G>A	ENSP00000379842:p.Arg211His		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom	p.R211H	ENST00000396596.1	37	c.632	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.688637	0.96784	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714;ENST00000519396;ENST00000521152	T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.097739	0.64402	D	0.000001	T	0.80221	0.4583	M	0.90977	3.165	0.43471	D	0.995687	D;P	0.56035	0.974;0.905	P;P	0.52454	0.697;0.699	D	0.84676	0.0714	9	0.87932	D	0	.	19.9659	0.97266	0.0:0.0:1.0:0.0	.	211;211	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	H	211;211;211;211;211;211;211;93;108	ENSP00000429022:R211H;ENSP00000430463:R211H;ENSP00000430256:R211H;ENSP00000430691:R211H;ENSP00000379842:R211H;ENSP00000331816:R211H;ENSP00000428529:R93H;ENSP00000429565:R108H	ENSP00000262211:R211H	R	+	2	0	SGK3	67910754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.719000	0.93026	0.650000	0.86243	CGT	SGK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000104205		0.323	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	-	0	37	0	G			67748200	1	tier1	-	no_errors	ENST00000345714	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	A	A	67748200	G	A	67748200	3	1	65	1	0	0	0	0	1	0	0	0	14257	1145	40	1	666	1	SGK3	8	67748200	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	405876	67748200	78615822	103	17932											
EYA1	2138	genome.wustl.edu	37	chr8	72129031	72129031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgtacaccagttgccaaaCataagttagcactggttgct	11	10	8	12	1	0	0	0	0	0	0	0	0	0	0	3	1	5	6	3	1	4	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:72129031C>T	ENST00000340726.3	-	14	1895	c.1256G>A	c.(1255-1257)tGt>tAt	p.C419Y	EYA1_ENST00000388740.3_Missense_Mutation_p.C386Y|EYA1_ENST00000303824.7_Missense_Mutation_p.C413Y|EYA1_ENST00000419131.1_Missense_Mutation_p.C384Y|EYA1_ENST00000388742.4_Missense_Mutation_p.C419Y|EYA1_ENST00000388741.2_Missense_Mutation_p.C385Y|EYA1_ENST00000388743.2_Missense_Mutation_p.C418Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	419					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGTTGCCAAACATAAGTTAGC	0.438																																																	0													138	126	130					8																	72129031		2203	4300	6503	SO:0001583	missense	0			AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"Protein tyrosine phosphatases / Asp-based PTPs"	3519	protein-coding gene	gene with protein product		601653	"eyes absent (Drosophila) homolog 1", "eyes absent homolog 1 (Drosophila)"	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1256G>A	8.37:g.72129031C>T	ENSP00000342626:p.Cys419Tyr		A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.C419Y	ENST00000340726.3	37	c.1256	CCDS34906.1	8	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366053	0.82463	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.44	5.44	0.79542	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.91744	0.7389	M	0.81682	2.555	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.998;0.998;0.996;0.999	D;D;D;D;D	0.80764	0.994;0.987;0.987;0.994;0.983	D	0.92170	0.5743	10	0.87932	D	0	-18.1281	19.4568	0.94895	0.0:1.0:0.0:0.0	.	413;346;386;419;384	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	Y	419;419;387;386;413;385;418;384	ENSP00000373394:C419Y;ENSP00000342626:C419Y;ENSP00000373392:C386Y;ENSP00000303221:C413Y;ENSP00000373393:C385Y;ENSP00000373395:C418Y;ENSP00000410176:C384Y	ENSP00000303221:C413Y	C	-	2	0	EYA1	72291585	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.572000	0.82409	2.832000	0.97577	0.655000	0.94253	TGT	EYA1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000104313		0.438	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EYA1	HGNC	protein_coding	OTTHUMT00000313788.2	-	0	52	0	C	NM_000503, NM_172060		72129031	-1	tier1	-	no_errors	ENST00000340726	ensembl	human	known	74_37	missense	45.00	44	36	SNP	1.000	T	T	72129031	C	T	72129031	3	4	65	1	0	0	0	0	1	0	0	0	5344	478	17	3	542	3	EYA1	8	72129031	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	4380831	72129031	74234991	104	17933											
CSMD3	114788	genome.wustl.edu	37	chr8	113364724	113364724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaattttaattccactgCtaggagtttgtggttcagga	9	15	9	8	0	1	0	1	0	0	0	3	2	3	2	2	3	1	3	2	3	3	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:113364724C>A	ENST00000297405.5	-	39	6420	c.6176G>T	c.(6175-6177)aGc>aTc	p.S2059I	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1955I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1989I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2019I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2059	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTCCACTGCTAGGAGTTTG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													113	106	109					8																	113364724		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6176G>T	8.37:g.113364724C>A	ENSP00000297405:p.Ser2059Ile		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S2059I	ENST00000297405.5	37	c.6176	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609131	0.66558	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.055201	0.64402	D	0.000001	T	0.67720	0.2923	L	0.28054	0.825	0.46678	D	0.999157	P;B;P	0.52061	0.534;0.06;0.95	B;B;P	0.54140	0.283;0.063;0.743	T	0.71045	-0.4706	10	0.56958	D	0.05	.	18.476	0.90792	0.0:1.0:0.0:0.0	.	1955;2059;2019	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2019;2059;1329;1955;1989	ENSP00000345799:S2019I;ENSP00000297405:S2059I;ENSP00000341558:S1329I;ENSP00000412263:S1955I;ENSP00000343124:S1989I	ENSP00000297405:S2059I	S	-	2	0	CSMD3	113433900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.213000	0.42844	2.670000	0.90874	0.655000	0.94253	AGC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	37	0	C	NM_052900		113364724	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	18.37	40	9	SNP	1.000	A	A	113364724	C	A	113364724	3	1	65	1	0	0	0	0	1	0	0	0	3955	797	28	3	5079	3	CSMD3	8	113364724	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	41235693	113364724	32999298	105	17934											
TRPS1	7227	genome.wustl.edu	37	chr8	116599552	116599552	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaactctcggtccaaacTttctctttgagcccgtcctt	6	14	7	14	2	2	1	0	1	2	0	6	2	4	2	3	2	3	0	3	2	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:116599552T>G	ENST00000220888.5	-	4	2496	c.2337A>C	c.(2335-2337)aaA>aaC	p.K779N	TRPS1_ENST00000395715.3_Missense_Mutation_p.K792N|TRPS1_ENST00000519076.1_Missense_Mutation_p.K533N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K783N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K779N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	779	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CGGTCCAAACTTTCTCTTTGA	0.527									Langer-Giedion syndrome																																								0													292	302	299					8																	116599552		1967	4141	6108	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2337A>C	8.37:g.116599552T>G	ENSP00000220888:p.Lys779Asn		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.K792N	ENST00000220888.5	37	c.2376		8	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723661	0.48728	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98914	-5.23;-5.2;-5.16;-5.2;0.56	5.76	0.809	0.18725	.	0.000000	0.85682	D	0.000000	D	0.97882	0.9304	L	0.34521	1.04	0.38040	D	0.935437	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.96805	0.9592	10	0.87932	D	0	.	9.7367	0.40392	0.0:0.3387:0.0:0.6613	.	783;779;792	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	792;779;533;783;779	ENSP00000379065:K792N;ENSP00000220888:K779N;ENSP00000428910:K533N;ENSP00000428680:K783N;ENSP00000429174:K779N	ENSP00000220888:K779N	K	-	3	2	TRPS1	116668727	0.984000	0.35163	0.976000	0.42696	0.505000	0.33919	0.858000	0.27845	-0.076000	0.12775	-0.250000	0.11733	AAA	TRPS1	-	NULL	ENSG00000104447		0.527	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	38	0	T	NM_014112		116599552	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	38.33	37	23	SNP	0.662	G	G	116599552	T	G	116599552	3	3	65	1	0	0	0	0	1	0	0	0	16641	1606	56	4	1520	4	TRPS1	8	116599552	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	3234828	116599552	29764470	106	17935											
KCNQ3	3786	genome.wustl.edu	37	chr8	133152397	133152397	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattcccatagcccctgtcTtccgccatggggtcacctgt	5	12	8	16	1	3	0	2	0	1	0	5	0	5	0	6	2	1	0	6	2	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:133152397T>G	ENST00000388996.4	-	11	1914	c.1494A>C	c.(1492-1494)gaA>gaC	p.E498D	KCNQ3_ENST00000521134.1_Missense_Mutation_p.E378D|KCNQ3_ENST00000519445.1_Missense_Mutation_p.E498D	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	498					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGCCCCTGTCTTCCGCCATGG	0.617																																																	0													60	60	60					8																	133152397		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1494A>C	8.37:g.133152397T>G	ENSP00000373648:p.Glu498Asp		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E498D	ENST00000388996.4	37	c.1494	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749491	0.30955	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99563	-6.17;-6.17;-6.17	5.92	3.52	0.40303	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.052358	0.85682	D	0.000000	D	0.96941	0.9001	N	0.20574	0.59	0.41724	D	0.989525	B;B	0.24483	0.104;0.104	B;B	0.25140	0.058;0.058	D	0.94254	0.7496	10	0.02654	T	1	-21.6452	8.1881	0.31352	0.0:0.2181:0.0:0.7819	.	498;498	E7ET42;O43525	.;KCNQ3_HUMAN	D	498;378;498;487;377	ENSP00000373648:E498D;ENSP00000429799:E378D;ENSP00000428790:E498D	ENSP00000373648:E498D	E	-	3	2	KCNQ3	133221579	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.151000	0.31651	0.484000	0.27630	0.533000	0.62120	GAA	KCNQ3	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000184156		0.617	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	47	0	T	NM_004519		133152397	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	48.31	46	43	SNP	1.000	G	G	133152397	T	G	133152397	3	3	65	1	0	0	0	0	1	0	0	0	8111	1606	56	4	1144	4	KCNQ3	8	133152397	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	16552845	133152397	13211625	107	17936											
SLA	6503	genome.wustl.edu	37	chr8	134063088	134063088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacacgcagtttctcccctCggcggaatatcggggggctg	6	9	13	13	4	2	0	1	0	1	0	5	1	2	1	2	5	0	3	2	5	2	2	rs572664813		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:134063088C>T	ENST00000338087.5	-	4	953	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000518565.1_5'UTR|SLA_ENST00000395352.3_Missense_Mutation_p.R62Q|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.R85Q|TG_ENST00000519543.1_Intron|SLA_ENST00000517648.1_Missense_Mutation_p.R62Q	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	45	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.R85P(1)|p.R45P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCTCCCCTCGGCGGAATAT	0.502																																																	2	Substitution - Missense(2)	lung(2)											62	64	63					8																	134063088		2203	4300	6503	SO:0001583	missense	0				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.134G>A	8.37:g.134063088C>T	ENSP00000337548:p.Arg45Gln		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.R85Q	ENST00000338087.5	37	c.254	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379571	0.42207	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341;ENST00000521302	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.42	4.55	0.56014	Src homology-3 domain (4);	0.283692	0.39020	N	0.001498	T	0.29749	0.0743	N	0.17872	0.535	0.09310	N	1	B;B;B;B;B;B	0.23442	0.085;0.049;0.049;0.001;0.0;0.049	B;B;B;B;B;B	0.12837	0.008;0.005;0.005;0.003;0.002;0.005	T	0.19549	-1.0302	10	0.59425	D	0.04	-4.4157	7.2088	0.25921	0.1686:0.7451:0.0:0.0864	.	62;45;45;45;45;45	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	Q	45;85;62;62;45;45;45	ENSP00000337548:R45Q;ENSP00000394049:R85Q;ENSP00000378759:R62Q;ENSP00000428559:R62Q;ENSP00000430596:R45Q;ENSP00000429681:R45Q;ENSP00000430184:R45Q	ENSP00000337548:R45Q	R	-	2	0	SLA	134132270	0.000000	0.05858	0.174000	0.22961	0.520000	0.34377	1.274000	0.33132	1.440000	0.47531	0.650000	0.86243	CGA	SLA	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000155926		0.502	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	HGNC	protein_coding	OTTHUMT00000378771.1	-	0	33	0	C			134063088	-1	tier1	-	no_errors	ENST00000427060	ensembl	human	known	74_37	missense	34.55	36	19	SNP	0.019	T	T	134063088	C	T	134063088	3	4	65	1	0	0	0	0	1	0	0	0	14408	884	31	1	720	1	SLA	8	134063088	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	910691	134063088	12300934	108	17937											
ZFAT	57623	genome.wustl.edu	37	chr8	135614670	135614670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagagctcacaggcaaaaGgccacttgtctccgtggacc	11	6	10	14	1	2	1	1	0	1	1	3	2	2	2	3	3	1	2	3	3	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:135614670G>A	ENST00000377838.3	-	6	1466	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	ZFAT_ENST00000520214.1_Missense_Mutation_p.P419L|ZFAT_ENST00000520356.1_Missense_Mutation_p.P419L|ZFAT_ENST00000523399.1_Missense_Mutation_p.P369L|ZFAT_ENST00000520727.1_Missense_Mutation_p.P419L|ZFAT_ENST00000429442.2_Missense_Mutation_p.P419L|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	431					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACAGGCAAAAGGCCACTTGTC	0.602																																																	0													48	51	50					8																	135614670		2079	4217	6296	SO:0001583	missense	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1292C>T	8.37:g.135614670G>A	ENSP00000367069:p.Pro431Leu		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P431L	ENST00000377838.3	37	c.1292	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961158	0.92791	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000523399;ENST00000398946	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	5.74	5.74	0.90152	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	M	0.65677	2.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.997	T	0.20207	-1.0282	10	0.72032	D	0.01	-26.9515	18.9218	0.92528	0.0:0.0:1.0:0.0	.	369;419;419;431	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	L	419;419;419;431;419;369;419	ENSP00000427879:P419L;ENSP00000427831:P419L;ENSP00000394501:P419L;ENSP00000367069:P431L;ENSP00000428483:P419L;ENSP00000429091:P369L	ENSP00000367069:P431L	P	-	2	0	ZFAT	135683852	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.869000	0.99810	2.717000	0.92951	0.563000	0.77884	CCT	ZFAT	-	pfscan_Znf_C2H2	ENSG00000066827		0.602	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	-	0	27	0	G	NM_001029939		135614670	-1	tier1	-	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	A	A	135614670	G	A	135614670	3	1	65	1	0	0	0	0	1	0	0	0	17680	1000	35	3	2483	3	ZFAT	8	135614670	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	1551582	135614670	10749352	109	17938											
COL22A1	169044	genome.wustl.edu	37	chr8	139774711	139774711	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaggcctcgctctcccTggcaaaagaaggcaaatggt	11	7	10	13	1	1	1	0	0	1	1	4	1	2	1	3	4	0	3	3	4	4	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:139774711T>G	ENST00000303045.6	-	17	2250		c.e17-2		COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCGCTCTCCCTGGCAAAAGAA	0.582										HNSCC(7;0.00092)																																							0													68	53	58					8																	139774711		2203	4300	6503	SO:0001630	splice_region_variant	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.1804-2A>C	8.37:g.139774711T>G			B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	-	e16-2	ENST00000303045.6	37	c.1804-2	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	T	19.91	3.914131	0.72983	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4541	0.50171	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139843893	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.432000	0.52824	2.202000	0.70862	0.533000	0.62120	.	COL22A1	-	-	ENSG00000169436		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	31	0	T	XM_291257	Intron	139774711	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	splice_site	28.85	37	15	SNP	0.998	G	G	139774711	T	G	139774711	5	3	65	1	0	0	0	0	0	0	1	0	3688	1594	55	4	3274	4	COL22A1	8	139774711	Splice_Site	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	4160041	139774711	6589311	110	17939											
CPSF1	29894	genome.wustl.edu	37	chr8	145624995	145624995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccttgtcggcagcctcacGgacagcactggccgggggct	6	6	14	15	3	1	0	1	0	0	0	2	1	1	1	3	5	2	3	3	5	0	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr8:145624995G>A	ENST00000349769.3	-	12	1319	c.1225C>T	c.(1225-1227)Cgt>Tgt	p.R409C	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	409					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCAGCCTCACGGACAGCACTG	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)												0													20	23	22					8																	145624995		2196	4297	6493	SO:0001583	missense	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1225C>T	8.37:g.145624995G>A	ENSP00000339353:p.Arg409Cys		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R409C	ENST00000349769.3	37	c.1225	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469669	0.26423	.	.	ENSG00000071894	ENST00000349769	T	0.48201	0.82	5.47	5.47	0.80525	.	0.121945	0.56097	D	0.000032	T	0.31734	0.0806	N	0.14661	0.345	0.38040	D	0.935433	D	0.54207	0.965	B	0.39738	0.308	T	0.38090	-0.9677	10	0.56958	D	0.05	-0.5358	14.8214	0.70077	0.0:0.0:1.0:0.0	.	409	Q10570	CPSF1_HUMAN	C	409	ENSP00000339353:R409C	ENSP00000339353:R409C	R	-	1	0	CPSF1	145595803	0.991000	0.36638	0.145000	0.22337	0.560000	0.35617	2.826000	0.48104	2.573000	0.86826	0.400000	0.26472	CGT	CPSF1	-	NULL	ENSG00000071894		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	-	0	26	0	G	NM_013291		145624995	-1	tier1	-	no_errors	ENST00000349769	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.324	A	A	145624995	G	A	145624995	3	1	65	1	0	0	0	0	1	0	0	0	3831	1116	39	1	3214	1	CPSF1	8	145624995	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	5850284	145624995	739027	111	17940											
GLDC	2731	genome.wustl.edu	37	chr9	6602180	6602180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggtttgaagagcaagacGatacacttctttcccagtgg	10	11	10	10	1	1	3	0	1	1	2	2	4	2	3	2	2	2	2	2	2	3	4	rs10975674		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:6602180G>A	ENST00000321612.6	-	8	1234	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	362					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AGAGCAAGACGATACACTTCT	0.448																																																	0													239	182	201					9																	6602180		2203	4300	6503	SO:0001583	missense	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1084C>T	9.37:g.6602180G>A	ENSP00000370737:p.Arg362Cys		Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	p.R362C	ENST00000321612.6	37	c.1084	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979224	0.92982	.	.	ENSG00000178445	ENST00000321612	D	0.96491	-4.03	4.81	4.81	0.61882	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	M	0.92412	3.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99474	1.0946	10	0.87932	D	0	-14.8524	18.4464	0.90685	0.0:0.0:1.0:0.0	rs10975674	362	P23378	GCSP_HUMAN	C	362	ENSP00000370737:R362C	ENSP00000370737:R362C	R	-	1	0	GLDC	6592180	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.351000	0.79395	2.673000	0.90976	0.555000	0.69702	CGT	GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	ENSG00000178445		0.448	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	-	0	37	0	G	NM_000170		6602180	-1	tier1	rs10975674	no_errors	ENST00000321612	ensembl	human	known	74_37	missense	26.09	33	12	SNP	1.000	A	A	6602180	G	A	6602180	3	1	65	1	0	0	0	0	1	0	0	0	6459	1058	37	1	2050	1	GLDC	9	6602180	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09		6602180	134611251	112	17941											
FREM1	158326	genome.wustl.edu	37	chr9	14851562	14851562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttggaatctgattcGgaattccagctctgatatag	10	13	9	9	1	2	2	0	2	2	0	4	4	3	4	2	2	2	1	2	2	4	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:14851562G>A	ENST00000380880.3	-	6	1655	c.872C>T	c.(871-873)cCg>cTg	p.P291L	FREM1_ENST00000380881.4_Missense_Mutation_p.P292L|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Missense_Mutation_p.P291L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	291					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.P292L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AATCTGATTCGGAATTCCAGC	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											113	112	112					9																	14851562		1923	4134	6057	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.872C>T	9.37:g.14851562G>A	ENSP00000370262:p.Pro291Leu		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.P292L	ENST00000380880.3	37	c.875	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.351360	0.95830	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10960	2.82;2.82;2.82	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.02378	-1.1168	10	0.54805	T	0.06	-15.6975	20.7342	0.99715	0.0:0.0:1.0:0.0	.	291	Q5H8C1	FREM1_HUMAN	L	292;291;291	ENSP00000370263:P292L;ENSP00000412940:P291L;ENSP00000370262:P291L	ENSP00000370257:P294L	P	-	2	0	FREM1	14841562	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	CCG	FREM1	-	NULL	ENSG00000164946		0.418	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	20	0	G	NM_144966		14851562	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A	A	14851562	G	A	14851562	3	1	65	1	0	0	0	0	1	0	0	0	6068	1116	39	1	5845	1	FREM1	9	14851562	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	8249382	14851562	126361869	113	17942											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39288005	39288005	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctcccacggggctccaAgtctgagtggggagaagcag	8	6	15	12	1	1	2	0	1	1	1	3	3	3	2	3	4	2	3	3	4	2	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:39288005A>C	ENST00000297668.6	-	1	130	c.57T>G	c.(55-57)acT>acG	p.T19T	CNTNAP3_ENST00000323947.7_Silent_p.T19T|CNTNAP3_ENST00000377656.2_Silent_p.T19T|CNTNAP3_ENST00000377659.1_Silent_p.T19T	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	19					cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGGGGCTCCAAGTCTGAGTGG	0.542																																																	0													3	2	2					9																	39288005		1054	1429	2483	SO:0001819	synonymous_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.57T>G	9.37:g.39288005A>C			B1AMA0|Q9C0E9	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T19	ENST00000297668.6	37	c.57	CCDS6616.1	9																																																																																			CNTNAP3	-	NULL	ENSG00000106714		0.542	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0	40	0	A	NM_033655		39288005	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	silent	17.78	37	8	SNP	0.000	C	C	39288005	A	C	39288005	2	2	65	1	0	0	0	0	0	0	0	1	3655	59	3	4		4	CNTNAP3	9	39288005	Silent	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	24436443	39288005	101925426	114	17943											
TRPM3	80036	genome.wustl.edu	37	chr9	73457998	73457998	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatatctttcctcgagacTtagaggcatgatccttcaag	10	13	8	10	1	2	3	1	1	1	2	5	4	4	3	2	1	1	2	2	1	3	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:73457998T>G	ENST00000377111.2	-	5	965	c.722A>C	c.(721-723)aAg>aCg	p.K241T	TRPM3_ENST00000377106.1_Missense_Mutation_p.K88T|TRPM3_ENST00000396285.1_Missense_Mutation_p.K88T|TRPM3_ENST00000423814.3_Missense_Mutation_p.K243T|TRPM3_ENST00000361823.5_Missense_Mutation_p.K88T|TRPM3_ENST00000377105.1_Missense_Mutation_p.K88T|TRPM3_ENST00000360823.2_Missense_Mutation_p.K88T|TRPM3_ENST00000396283.1_Missense_Mutation_p.K88T|TRPM3_ENST00000377110.3_Missense_Mutation_p.K241T|TRPM3_ENST00000358082.3_Missense_Mutation_p.K88T|TRPM3_ENST00000357533.2_Missense_Mutation_p.K243T|TRPM3_ENST00000377097.3_Missense_Mutation_p.K88T|TRPM3_ENST00000396280.5_Missense_Mutation_p.K88T|TRPM3_ENST00000396292.4_Missense_Mutation_p.K88T|TRPM3_ENST00000377101.1_Missense_Mutation_p.K88T|TRPM3_ENST00000408909.2_Missense_Mutation_p.K88T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	241					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCCTCGAGACTTAGAGGCATG	0.423																																																	0													99	87	91					9																	73457998		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.722A>C	9.37:g.73457998T>G	ENSP00000366315:p.Lys241Thr		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.K243T	ENST00000377111.2	37	c.728		9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	13.91|13.91|13.91	2.379320|2.379320|2.379320	0.42207|0.42207|0.42207	.|.|.	.|.|.	ENSG00000083067|ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451|ENST00000377097|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.73469|.|.	-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75;-0.75|.|.	5.61|5.61|5.61	5.61|5.61|5.61	0.85477|0.85477|0.85477	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.61464|0.61464|.	0.2349|0.2349|.	L|L|L	0.42245|0.42245|0.42245	1.32|1.32|1.32	0.48185|0.48185|0.48185	D|D|D	0.9996|0.9996|0.9996	B;D;B;P;P;D;B;P;D;P;B|.|.	0.89917|.|.	0.374;1.0;0.367;0.756;0.578;0.998;0.369;0.733;0.998;0.578;0.107|.|.	B;D;B;P;B;D;B;B;D;B;B|.|.	0.91635|.|.	0.148;0.999;0.146;0.583;0.176;0.909;0.226;0.377;0.909;0.242;0.118|.|.	T|T|.	0.58177|0.58177|.	-0.7682|-0.7682|.	10|5|.	0.39692|.|.	T|.|.	0.17|.|.	-16.1724|-16.1724|-16.1724	15.8059|15.8059|15.8059	0.78506|0.78506|0.78506	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	241;243;88;241;241;241;243;88;88;241;88|.|.	Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.|.|.	T|R|Y	241;241;88;88;88;243;88;88;88;88;243;88;88;88;88|131|87	ENSP00000366315:K241T;ENSP00000366314:K241T;ENSP00000366310:K88T;ENSP00000354066:K88T;ENSP00000366309:K88T;ENSP00000350140:K243T;ENSP00000386127:K88T;ENSP00000379581:K88T;ENSP00000379587:K88T;ENSP00000350791:K88T;ENSP00000389542:K243T;ENSP00000366305:K88T;ENSP00000379579:K88T;ENSP00000355395:K88T|.|.	ENSP00000350140:K243T|.|.	K|S|X	-|-|-	2|1|3	0|0|2	TRPM3|TRPM3|TRPM3	72647818|72647818|72647818	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.696000|0.696000|0.696000	0.40369|0.40369|0.40369	5.160000|5.160000|5.160000	0.64929|0.64929|0.64929	2.136000|2.136000|2.136000	0.66102|0.66102|0.66102	0.459000|0.459000|0.459000	0.35465|0.35465|0.35465	AAG|AGT|TAA	TRPM3	-	NULL	ENSG00000083067		0.423	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	29	0	T	NM_206945		73457998	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	G	G	73457998	T	G	73457998	3	3	65	1	0	0	0	0	1	0	0	0	16635	1609	56	4	4608	4	TRPM3	9	73457998	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	34169993	73457998	67755433	115	17944											
NFIL3	4783	genome.wustl.edu	37	chr9	94172659	94172659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactttaattttagtgaaaGcagctcagcttttaaagtgg	14	14	8	5	0	1	1	1	1	0	0	1	1	1	1	0	1	4	3	0	1	6	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:94172659G>A	ENST00000297689.3	-	2	752	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	120	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTAGTGAAAGCAGCTCAGCT	0.388																																					Esophageal Squamous(152;732 1832 10053 26981 51762)												0													110	117	115					9																	94172659		2203	4300	6503	SO:0001583	missense	0			X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"basic leucine zipper proteins"	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.358C>T	9.37:g.94172659G>A	ENSP00000297689:p.Leu120Phe		B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Missense_Mutation	SNP	pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	p.L120F	ENST00000297689.3	37	c.358	CCDS6690.1	9	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694556	0.48202	.	.	ENSG00000165030	ENST00000375724;ENST00000297689	T	0.43688	0.94	5.19	4.29	0.51040	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.64402	D	0.000018	T	0.50497	0.1619	M	0.82323	2.585	0.58432	D	0.999999	B	0.25206	0.12	B	0.31245	0.126	T	0.55945	-0.8060	10	0.59425	D	0.04	-11.5689	13.8154	0.63287	0.0733:0.0:0.9267:0.0	.	120	Q16649	NFIL3_HUMAN	F	120	ENSP00000297689:L120F	ENSP00000297689:L120F	L	-	1	0	NFIL3	93212480	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	7.277000	0.78572	1.424000	0.47217	0.561000	0.74099	CTT	NFIL3	-	pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP	ENSG00000165030		0.388	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIL3	HGNC	protein_coding	OTTHUMT00000053038.2		0	29	0	G	NM_005384		94172659	-1			no_errors	ENST00000297689	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	94172659	G	A	94172659	3	1	65	1	0	0	0	0	1	0	0	0	10412	971	34	3	1034	3	NFIL3	9	94172659	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	20714661	94172659	47040772	116	17945											
FUBP3	8939	genome.wustl.edu	37	chr9	133499004	133499004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctggctcctcagatgatgGgattagtccagaaagagctg	11	9	12	9	0	1	4	1	1	0	3	3	5	3	5	3	2	1	2	3	2	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:133499004G>A	ENST00000319725.9	+	11	956	c.881G>A	c.(880-882)gGg>gAg	p.G294E		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	294	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TCAGATGATGGGATTAGTCCA	0.507																																																	0													100	101	101					9																	133499004		1960	4172	6132	SO:0001583	missense	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.881G>A	9.37:g.133499004G>A	ENSP00000318177:p.Gly294Glu		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.G294E	ENST00000319725.9	37	c.881	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827407	0.71143	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	T	0.41065	1.01	5.54	5.54	0.83059	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.62853	0.2462	M	0.70108	2.13	0.53005	D	0.999963	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.996	T	0.56288	-0.8004	10	0.14252	T	0.57	-19.2512	18.4584	0.90729	0.0:0.0:1.0:0.0	.	234;294;294	Q96I24-2;A3KFK8;Q96I24	.;.;FUBP3_HUMAN	E	281;294;234	ENSP00000318177:G294E	ENSP00000318177:G294E	G	+	2	0	FUBP3	132488825	1.000000	0.71417	0.904000	0.35570	0.695000	0.40330	9.571000	0.98176	2.601000	0.87937	0.462000	0.41574	GGG	FUBP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000107164		0.507	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	-	0	54	0	G			133499004	1	tier1	-	no_errors	ENST00000319725	ensembl	human	known	74_37	missense	16.36	46	9	SNP	1.000	A	A	133499004	G	A	133499004	3	1	65	1	0	0	0	0	1	0	0	0	6117	1232	43	3	923	3	FUBP3	9	133499004	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	39326345	133499004	7714427	117	17946											
SETX	23064	genome.wustl.edu	37	chr9	135209997	135209997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtaaagtttattaccaTctgcttccctctccatagtg	10	14	6	11	0	2	0	0	0	2	0	4	0	3	0	3	0	2	4	3	0	6	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:135209997T>A	ENST00000224140.5	-	7	1018	c.836A>T	c.(835-837)gAt>gTt	p.D279V	SETX_ENST00000372169.2_Missense_Mutation_p.D279V|SETX_ENST00000393220.1_Missense_Mutation_p.D279V	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	279					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTATTACCATCTGCTTCCCT	0.383																																																	0													159	131	140					9																	135209997		2203	4300	6503	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.836A>T	9.37:g.135209997T>A	ENSP00000224140:p.Asp279Val		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.D279V	ENST00000224140.5	37	c.836	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	17.66	3.444530	0.63178	.	.	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	T;T;T	0.62788	0.0;0.0;0.0	5.91	5.91	0.95273	.	0.338981	0.29715	N	0.011398	T	0.52996	0.1769	L	0.27053	0.805	0.42943	D	0.994353	D	0.54397	0.966	P	0.44860	0.462	T	0.60089	-0.7331	10	0.72032	D	0.01	.	12.6548	0.56782	0.0:0.0:0.1374:0.8626	.	279	Q7Z333	SETX_HUMAN	V	279	ENSP00000224140:D279V;ENSP00000361242:D279V;ENSP00000376913:D279V	ENSP00000224140:D279V	D	-	2	0	SETX	134199818	1.000000	0.71417	0.711000	0.30485	0.652000	0.38707	4.310000	0.59141	2.263000	0.75096	0.377000	0.23210	GAT	SETX	-	NULL	ENSG00000107290		0.383	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	-	0	50	0	T	NM_015046		135209997	-1	tier1	-	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	32.89	51	25	SNP	0.616	A	A	135209997	T	A	135209997	3	1	65	1	0	0	0	0	1	0	0	0	14186	1435	50	5	7277	5	SETX	9	135209997	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	1710993	135209997	6003434	118	17947											
RPL7A	6130	genome.wustl.edu	37	chr9	136217908	136217909	+	Frame_Shift_Ins	INS	-	-	A																															aagctatcaggaccaattacINSaatgacagatacgatgaggt																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:136217908_136217909insA	ENST00000323345.6	+	7	708_709	c.678_679insA	c.(679-681)aatfs	p.N227fs	MED22_ENST00000471524.1_5'Flank|RPL7A_ENST00000315731.4_Frame_Shift_Ins_p.N112fs|SURF1_ENST00000495952.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|RPL7A_ENST00000463740.1_3'UTR|MED22_ENST00000344469.5_5'Flank|SNORD24_ENST00000383884.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000371999.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000343730.5_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	227					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGACCAATTACAATGACAGATA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"L ribosomal proteins"	10364	protein-coding gene	gene with protein product	"surfeit 3", "PLA-X polypeptide", "surfeit locus protein 3", "60S ribosomal protein L7a", ";", "thyroid hormone receptor uncoupling protein"	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.680dupA	9.37:g.136217910_136217910dupA	ENSP00000361076:p.Asn227fs		P11518|Q5T8U4	Frame_Shift_Ins	INS	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.N226fs	ENST00000323345.6	37	c.678_679	CCDS6965.1	9																																																																																			RPL7A	-	prints_Ribosomal_L7A/L8	ENSG00000148303		0.436	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1		0	46	0	-	NM_000972		136217909	1	tier1		no_errors	ENST00000323345	ensembl	human	known	74_37	frame_shift_ins	43.75	27	21	INS	1.000:1.000	A	A	136217909	-	A	136217908	7	5	65	1	0	1	1	0	0	0	0	0	13645	489	17	0	704	0	RPL7A	9	136217908	Frame_Shift_Ins	INS	-	TCGA-L5-A4OR-01A-11D-A27G-09	1007911	136217908	4995523	119	17948											
RXRA	6256	genome.wustl.edu	37	chr9	137321027	137321027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgggatcctcctggccacCgggctgcacgtccaccggaa	7	5	13	16	4	0	0	0	0	0	0	3	3	3	2	6	4	1	2	6	4	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr9:137321027C>T	ENST00000481739.1	+	7	1036	c.984C>T	c.(982-984)acC>acT	p.T328T	RXRA_ENST00000540193.1_Silent_p.T231T|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	328	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.T328T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	TCCTGGCCACCGGGCTGCACG	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											75	73	74					9																	137321027		2203	4300	6503	SO:0001819	synonymous_variant	0			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"Nuclear hormone receptors"	10477	protein-coding gene	gene with protein product	"nuclear receptor subfamily 2 group B member 1"	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.984C>T	9.37:g.137321027C>T			B3KY83|Q2NL52|Q2V504	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt	p.T328	ENST00000481739.1	37	c.984	CCDS35172.1	9																																																																																			RXRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Retinoic_acid_rcpt	ENSG00000186350		0.687	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	-	0	28	0	C	NM_002957		137321027	1	tier1	-	no_errors	ENST00000481739	ensembl	human	known	74_37	silent	18.18	27	6	SNP	0.954	T	T	137321027	C	T	137321027	2	4	65	1	0	0	0	0	0	0	0	1	13808	639	23	1		1	RXRA	9	137321027	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	1103119	137321027	3892404	120	17949											
UPF2	26019	genome.wustl.edu	37	chr10	11994105	11994105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgttccaagtcttgtacctgCctgatggattcttccagaga	8	13	9	11	1	2	2	0	1	2	1	4	4	4	3	4	1	2	2	4	1	2	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:11994105C>T	ENST00000356352.2	-	14	3467	c.2994G>A	c.(2992-2994)agG>agA	p.R998R	UPF2_ENST00000357604.5_Silent_p.R998R|UPF2_ENST00000397053.2_Silent_p.R998R			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	998	Sufficient for interaction with EIF4A1 and EIF1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTTGTACCTGCCTGATGGATT	0.353																																																	0													207	202	204					10																	11994105		2202	4300	6502	SO:0001819	synonymous_variant	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2994G>A	10.37:g.11994105C>T			A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R998	ENST00000356352.2	37	c.2994	CCDS7086.1	10																																																																																			UPF2	-	superfamily_ARM-type_fold	ENSG00000151461		0.353	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1		0	37	0	C			11994105	-1			no_errors	ENST00000356352	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	T	T	11994105	C	T	11994105	2	4	65	1	0	0	0	0	0	0	0	1	17053	738	26	3		3	UPF2	10	11994105	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09		11994105	123540642	121	17950											
HNRNPF	3185	genome.wustl.edu	37	chr10	43882851	43882851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctcagctaactcctgcGaggcaaactgcacgaacgct	10	8	8	15	3	1	0	1	0	1	0	3	2	2	0	2	1	6	4	2	1	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:43882851G>A	ENST00000544000.1	-	4	889	c.482C>T	c.(481-483)tCg>tTg	p.S161L	HNRNPF_ENST00000337970.3_Missense_Mutation_p.S161L|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000443950.2_Missense_Mutation_p.S161L|HNRNPF_ENST00000357065.4_Missense_Mutation_p.S161L|HNRNPF_ENST00000356053.3_Missense_Mutation_p.S161L	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TAACTCCTGCGAGGCAAACTG	0.512																																																	0													119	111	114					10																	43882851		2203	4300	6503	SO:0001583	missense	0				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"RNA binding motif (RRM) containing"	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.482C>T	10.37:g.43882851G>A	ENSP00000438061:p.Ser161Leu		B3KM84|Q5T0N2|Q96AU2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.S161L	ENST00000544000.1	37	c.482	CCDS7204.1	10	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406983	0.62399	.	.	ENSG00000169813	ENST00000544000;ENST00000443950;ENST00000356053;ENST00000357065;ENST00000337970;ENST00000540544	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	4.17	3.27	0.37495	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.075071	0.56097	D	0.000022	T	0.49047	0.1534	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55792	-0.8085	10	0.66056	D	0.02	-18.1595	10.1902	0.43021	0.0993:0.0:0.9007:0.0	.	161	P52597	HNRPF_HUMAN	L	161;161;161;161;161;84	ENSP00000438061:S161L;ENSP00000400433:S161L;ENSP00000348345:S161L;ENSP00000349573:S161L;ENSP00000338477:S161L	ENSP00000338477:S161L	S	-	2	0	HNRNPF	43202857	1.000000	0.71417	0.838000	0.33150	0.952000	0.60782	8.811000	0.91954	1.350000	0.45770	0.655000	0.94253	TCG	HNRNPF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000169813		0.512	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2	-	0	44	0	G			43882851	-1	tier1	-	no_errors	ENST00000337970	ensembl	human	known	74_37	missense	12.00	66	9	SNP	0.996	A	A	43882851	G	A	43882851	3	1	65	1	0	0	0	0	1	0	0	0	7292	1059	37	1	769	1	HNRNPF	10	43882851	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	31888746	43882851	91651896	122	17951											
LRIT1	26103	genome.wustl.edu	37	chr10	85993970	85993970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatggagctctgggccctGgcacttcctcagttcaagct	6	11	12	12	0	3	0	2	0	1	0	4	2	4	2	2	4	2	4	2	4	1	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:85993970G>T	ENST00000372105.3	-	3	775	c.754C>A	c.(754-756)Cag>Aag	p.Q252K		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	252	LRRCT.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TCTGGGCCCTGGCACTTCCTC	0.612																																																	0													78	75	76					10																	85993970		2203	4300	6503	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.754C>A	10.37:g.85993970G>T	ENSP00000361177:p.Gln252Lys		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q252K	ENST00000372105.3	37	c.754	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130834	0.56828	.	.	ENSG00000148602	ENST00000372105	T	0.35421	1.31	5.91	4.99	0.66335	Cysteine-rich flanking region, C-terminal (1);	0.163740	0.56097	N	0.000033	T	0.33469	0.0864	M	0.72118	2.19	0.58432	D	0.999999	B	0.33135	0.399	B	0.23018	0.043	T	0.18053	-1.0349	10	0.10111	T	0.7	.	15.3245	0.74150	0.0:0.0:0.8588:0.1412	.	252	Q9P2V4	LRIT1_HUMAN	K	252	ENSP00000361177:Q252K	ENSP00000361177:Q252K	Q	-	1	0	LRIT1	85983950	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.408000	0.73285	1.474000	0.48178	0.655000	0.94253	CAG	LRIT1	-	smart_Cys-rich_flank_reg_C	ENSG00000148602		0.612	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0	30	0	G	NM_015613		85993970	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	T	T	85993970	G	T	85993970	3	4	65	1	0	0	0	0	1	0	0	0	8982	1357	47	3	1125	3	LRIT1	10	85993970	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	42111119	85993970	49540777	123	17952											
CRTAC1	55118	genome.wustl.edu	37	chr10	99770906	99770906	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcacttaccccgccacgacGatctcaaagtccccatcatg	10	7	7	17	3	2	0	2	0	1	0	4	2	3	0	5	1	1	1	5	1	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:99770906G>A	ENST00000370597.3	-	2	568	c.213C>T	c.(211-213)atC>atT	p.I71I	CRTAC1_ENST00000370591.2_Silent_p.I71I|CRTAC1_ENST00000298819.4_Silent_p.I71I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	71						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGCCACGACGATCTCAAAGT	0.493																																																	0													139	114	123					10																	99770906		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.213C>T	10.37:g.99770906G>A			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.I71	ENST00000370597.3	37	c.213	CCDS31266.1	10																																																																																			CRTAC1	-	NULL	ENSG00000095713		0.493	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	-	0	29	0	G	NM_018058		99770906	-1	tier1	-	no_errors	ENST00000370597	ensembl	human	known	74_37	silent	38.89	11	7	SNP	1.000	A	A	99770906	G	A	99770906	2	1	65	1	0	0	0	0	0	0	0	1	3903	1048	37	1		1	CRTAC1	10	99770906	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	13776936	99770906	35763841	124	17953											
GFRA1	2674	genome.wustl.edu	37	chr10	117885013	117885013	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacttcttgcaaatgtcgtcGaggttgcaggccttcgctgc	6	13	11	11	3	1	0	0	0	1	0	4	1	1	0	1	2	4	4	1	2	2	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:117885013G>A	ENST00000355422.6	-	6	1039	c.489C>T	c.(487-489)ctC>ctT	p.L163L	GFRA1_ENST00000369236.1_Silent_p.L158L|GFRA1_ENST00000439649.3_Silent_p.L158L|GFRA1_ENST00000544592.1_Silent_p.L42L	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	163					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		AAATGTCGTCGAGGTTGCAGG	0.577																																					Ovarian(128;329 1725 45498 46808 50759)												0													66	56	59					10																	117885013		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.489C>T	10.37:g.117885013G>A			A8KA21|O15507|O43912	Silent	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.L163	ENST00000355422.6	37	c.489	CCDS44481.1	10																																																																																			GFRA1	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2	ENSG00000151892		0.577	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	-	0	35	0	G	NM_145793		117885013	-1	tier1	-	no_errors	ENST00000355422	ensembl	human	known	74_37	silent	30.77	17	8	SNP	0.552	A	A	117885013	G	A	117885013	2	1	65	1	0	0	0	0	0	0	0	1	6373	1045	37	1		1	GFRA1	10	117885013	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	18114107	117885013	17649734	125	17954											
C10orf90	118611	genome.wustl.edu	37	chr10	128147765	128147765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagcgagaaatgaactgagGcttacgaacttccagtgctt	12	10	11	8	2	0	4	0	3	0	1	1	6	1	4	1	1	5	2	1	1	4	3	rs538297381		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:128147765G>A	ENST00000284694.7	-	6	1861	c.1741C>T	c.(1741-1743)Cct>Tct	p.P581S	C10orf90_ENST00000544758.1_Missense_Mutation_p.P678S|C10orf90_ENST00000356858.3_Missense_Mutation_p.P534S|C10orf90_ENST00000454341.1_Missense_Mutation_p.P484S|C10orf90_ENST00000480379.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	581	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ATGAACTGAGGCTTACGAACT	0.488																																																	0													152	130	137					10																	128147765		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1741C>T	10.37:g.128147765G>A	ENSP00000284694:p.Pro581Ser		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.P678S	ENST00000284694.7	37	c.2032	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479507	0.63849	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.37584	1.75;1.81;1.81;1.19	4.87	4.87	0.63330	.	0.000000	0.43110	D	0.000618	T	0.58177	0.2104	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.61217	-0.7107	10	0.72032	D	0.01	-18.6972	14.8626	0.70392	0.0:0.0:1.0:0.0	.	678;581;484	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	S	534;581;484;678;581	ENSP00000284694:P581S;ENSP00000398786:P484S;ENSP00000444369:P678S;ENSP00000405995:P581S	ENSP00000284694:P581S	P	-	1	0	C10orf90	128137755	1.000000	0.71417	0.923000	0.36655	0.628000	0.37860	6.049000	0.71053	2.508000	0.84585	0.655000	0.94253	CCT	C10orf90	-	NULL	ENSG00000154493		0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0	32	0	G	NM_001004298		128147765	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	65.38	18	34	SNP	0.981	A	A	128147765	G	A	128147765	3	1	65	1	0	0	0	0	1	0	0	0	1628	1203	42	3	374	3	C10orf90	10	128147765	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	10262752	128147765	7386982	126	17955											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133950788	133950788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggctacgtgaagagcGtgttagtaagtatggtcagc	9	9	14	9	4	1	2	1	1	0	1	1	2	1	2	2	2	3	4	2	2	5	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr10:133950788G>A	ENST00000298622.4	+	7	1417	c.1279G>A	c.(1279-1281)Gtg>Atg	p.V427M		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	427						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CGTGAAGAGCGTGTTAGTAAG	0.607																																																	0													83	85	84					10																	133950788		2056	4196	6252	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1279G>A	10.37:g.133950788G>A	ENSP00000298622:p.Val427Met		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.V427M	ENST00000298622.4	37	c.1279	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222542	0.79464	.	.	ENSG00000188385	ENST00000298622	T	0.26518	1.73	5.08	4.17	0.49024	.	0.000000	0.53938	D	0.000044	T	0.22898	0.0553	L	0.44542	1.39	0.45172	D	0.998182	B	0.26258	0.145	B	0.24269	0.052	T	0.03483	-1.1032	10	0.49607	T	0.09	-27.3191	12.2007	0.54323	0.0799:0.0:0.9201:0.0	.	427	Q5VZ66	JKIP3_HUMAN	M	427	ENSP00000298622:V427M	ENSP00000298622:V427M	V	+	1	0	JAKMIP3	133800778	1.000000	0.71417	0.988000	0.46212	0.709000	0.40893	6.628000	0.74262	1.133000	0.42147	0.651000	0.88453	GTG	JAKMIP3	-	NULL	ENSG00000188385		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0	31	0	G	NM_194303		133950788	1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	84.62	6	33	SNP	0.999	A	A	133950788	G	A	133950788	3	1	65	1	0	0	0	0	1	0	0	0	7969	1145	40	1	1305	1	JAKMIP3	10	133950788	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	5803023	133950788	1583959	127	17956											
OR52K2	119774	genome.wustl.edu	37	chr11	4470965	4470965	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctatctgcaagccactGcactacaccaaggtcctgac	10	8	9	14	0	1	1	0	1	1	0	2	1	2	1	3	2	4	3	3	2	4	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:4470965G>T	ENST00000325719.4	+	1	441	c.396G>T	c.(394-396)ctG>ctT	p.L132L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAAGCCACTGCACTACACCA	0.567																																																	0													108	95	99					11																	4470965		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"GPCR / Class A : Olfactory receptors"	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.396G>T	11.37:g.4470965G>T			A8MUY8|B2RP35|Q6IFK4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L132	ENST00000325719.4	37	c.396	CCDS31351.1	11																																																																																			OR52K2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181963		0.567	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	-	0	75	0	G	NM_001005172		4470965	1	tier1	-	no_errors	ENST00000325719	ensembl	human	known	74_37	silent	58.70	37	54	SNP	0.986	T	T	4470965	G	T	4470965	2	4	65	1	0	0	0	0	0	0	0	1	11163	1306	46	3		3	OR52K2	11	4470965	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09		4470965	130535551	128	17957											
OR51T1	401665	genome.wustl.edu	37	chr11	4904056	4904056	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggctatgttccagctgctCcaatccaagggttcatgggg	8	10	12	11	0	1	0	1	0	0	0	4	0	4	0	3	4	2	5	3	4	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:4904056C>A	ENST00000322049.1	+	1	927	c.927C>A	c.(925-927)ctC>ctA	p.L309L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000380378.1_Silent_p.L336L			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAGCTGCTCCAATCCAAGG	0.453																																																	0													82	79	80					11																	4904056		2201	4298	6499	SO:0001819	synonymous_variant	0			BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"GPCR / Class A : Olfactory receptors"	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.927C>A	11.37:g.4904056C>A			Q6IFH9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L336	ENST00000322049.1	37	c.1008		11																																																																																			OR51T1	-	NULL	ENSG00000176900		0.453	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	OR51T1	HGNC	protein_coding	OTTHUMT00000142180.1	-	0	42	0	C	NM_001004759		4904056	1	tier1	-	no_errors	ENST00000380378	ensembl	human	known	74_37	silent	40.00	21	14	SNP	0.065	A	A	4904056	C	A	4904056	2	1	65	1	0	0	0	0	0	0	0	1	11145	842	30	3		3	OR51T1	11	4904056	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	433091	4904056	130102460	129	17958											
OR52A1	23538	genome.wustl.edu	37	chr11	5172728	5172728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaccatagacaagtggaTtgagaaatggagggaccagc	14	7	13	7	0	0	2	0	1	0	2	0	6	0	5	2	3	2	1	2	3	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:5172728T>C	ENST00000380367.1	-	2	1289	c.872A>G	c.(871-873)aAt>aGt	p.N291S	OR52A1_ENST00000328942.1_Missense_Mutation_p.N291S			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	291					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAAGTGGATTGAGAAATGG	0.393																																																	0													140	146	144					11																	5172728		2201	4297	6498	SO:0001583	missense	0			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"GPCR / Class A : Olfactory receptors"	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.872A>G	11.37:g.5172728T>C	ENSP00000369725:p.Asn291Ser		Q6IF31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N291S	ENST00000380367.1	37	c.872	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508799	0.85282	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.58652	0.32;0.32	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000058	D	0.83848	0.5343	H	0.97540	4.025	0.42866	D	0.994126	D	0.89917	1.0	D	0.87578	0.998	D	0.89582	0.3821	10	0.87932	D	0	.	13.8702	0.63615	0.0:0.0:0.0:1.0	.	291	Q9UKL2	O52A1_HUMAN	S	291	ENSP00000369725:N291S;ENSP00000333684:N291S	ENSP00000333684:N291S	N	-	2	0	OR52A1	5129304	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.454000	0.80714	2.155000	0.67459	0.533000	0.62120	AAT	OR52A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000182070		0.393	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	-	0	35	0	T	NM_012375		5172728	-1	tier1	-	no_errors	ENST00000328942	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	C	C	5172728	T	C	5172728	3	2	65	1	0	0	0	0	1	0	0	0	11147	1493	52	4	68	4	OR52A1	11	5172728	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	268672	5172728	129833788	130	17959											
COPB1	1315	genome.wustl.edu	37	chr11	14490268	14490268	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatctgctgcctctttccTctgtgtgttacccattgctg	3	16	10	12	0	3	0	0	0	3	0	4	1	4	1	3	1	4	3	3	1	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:14490268T>G	ENST00000249923.3	-	16	2404	c.2104A>C	c.(2104-2106)Agg>Cgg	p.R702R	COPB1_ENST00000439561.2_Silent_p.R702R	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	702					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GCCTCTTTCCTCTGTGTGTTA	0.393																																																	0													178	157	164					11																	14490268		2200	4294	6494	SO:0001819	synonymous_variant	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2104A>C	11.37:g.14490268T>G			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.R702	ENST00000249923.3	37	c.2104	CCDS7815.1	11																																																																																			COPB1	-	pfam_Coatomer_bsu_C,pirsf_COPB1	ENSG00000129083		0.393	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1		0	63	0	T	NM_016451		14490268	-1			no_errors	ENST00000249923	ensembl	human	known	74_37	silent	5.08	56	3	SNP	1.000	G	G	14490268	T	G	14490268	2	3	65	1	0	0	0	0	0	0	0	1	3735	1550	54	4		4	COPB1	11	14490268	Silent	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	9317540	14490268	120516248	131	17960											
NELL1	4745	genome.wustl.edu	37	chr11	20699482	20699482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttcctttccagtggtGggctttgggatggaccctga	4	15	13	9	0	0	1	0	1	0	0	2	3	2	3	3	4	0	2	3	4	0	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:20699482G>A	ENST00000357134.5	+	2	212	c.60G>A	c.(58-60)gtG>gtA	p.V20V	NELL1_ENST00000325319.5_Silent_p.V20V|NELL1_ENST00000298925.5_Silent_p.V48V|NELL1_ENST00000532434.1_Silent_p.V20V	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	20					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTCCAGTGGTGGGCTTTGGGA	0.498																																																	0													158	147	151					11																	20699482		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.60G>A	11.37:g.20699482G>A			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.V20	ENST00000357134.5	37	c.60	CCDS7855.1	11																																																																																			NELL1	-	NULL	ENSG00000165973		0.498	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0	49	0	G	NM_006157		20699482	1	tier1	-	no_errors	ENST00000357134	ensembl	human	known	74_37	silent	61.90	16	26	SNP	0.514	A	A	20699482	G	A	20699482	2	1	65	1	0	0	0	0	0	0	0	1	10372	1335	47	3		3	NELL1	11	20699482	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	6209214	20699482	114307034	132	17961											
SLC5A12	159963	genome.wustl.edu	37	chr11	26743234	26743234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcaaatacaacataatCccaaactgcaaagttcttca	16	9	5	11	0	2	0	1	0	1	0	3	0	3	0	1	1	5	4	1	1	6	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:26743234C>A	ENST00000396005.3	-	1	337	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	SLC5A12_ENST00000280467.6_Missense_Mutation_p.D10Y	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	10					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.D10N(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ACAACATAATCCCAAACTGCA	0.418																																																	2	Substitution - Missense(2)	lung(2)											88	90	90					11																	26743234		2203	4299	6502	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.28G>T	11.37:g.26743234C>A	ENSP00000379326:p.Asp10Tyr		Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.D10Y	ENST00000396005.3	37	c.28	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438104	0.83885	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.91631	-2.88;-2.22	5.59	5.59	0.84812	.	0.058073	0.64402	D	0.000004	D	0.97523	0.9189	H	0.95365	3.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98314	1.0525	10	0.87932	D	0	.	19.5898	0.95506	0.0:1.0:0.0:0.0	.	10;10	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	Y	10	ENSP00000379326:D10Y;ENSP00000280467:D10Y	ENSP00000280467:D10Y	D	-	1	0	SLC5A12	26699810	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.782000	0.85680	2.643000	0.89663	0.585000	0.79938	GAT	SLC5A12	-	pfscan_Na/solute_symporter	ENSG00000148942		0.418	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	-	0	10	0	C	NM_178498		26743234	-1	tier1	-	no_errors	ENST00000396005	ensembl	human	known	74_37	missense	100.00	0	6	SNP	1.000	A	A	26743234	C	A	26743234	3	1	65	1	0	0	0	0	1	0	0	0	14709	855	30	3	1888	3	SLC5A12	11	26743234	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	6043752	26743234	108263282	133	17962											
STX5	6811	genome.wustl.edu	37	chr11	62591960	62591960	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagctgcagctgctggcTggtccgagagtccatcatgt	8	10	13	10	1	1	2	1	1	0	1	3	3	3	2	2	2	4	5	2	2	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:62591960T>G	ENST00000294179.3	-	9	910	c.757A>C	c.(757-759)Agc>Cgc	p.S253R	STX5_ENST00000377897.4_Missense_Mutation_p.S253R|STX5_ENST00000394690.1_Missense_Mutation_p.S199R|STX5_ENST00000541317.1_Missense_Mutation_p.S157R	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	253					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCTGCTGGCTGGTCCGAGAG	0.567																																																	0													103	99	100					11																	62591960		2201	4299	6500	SO:0001583	missense	0			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"syntaxin 5A"	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.757A>C	11.37:g.62591960T>G	ENSP00000294179:p.Ser253Arg		B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.S253R	ENST00000294179.3	37	c.757	CCDS8038.2	11	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461385	0.43736	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	5.56	5.56	0.83823	t-SNARE (1);	0.338711	0.37577	N	0.002022	T	0.21509	0.0518	L	0.57536	1.79	0.54753	D	0.999984	B;B	0.30542	0.284;0.187	B;B	0.30105	0.111;0.021	T	0.03957	-1.0989	10	0.13853	T	0.58	-16.8687	13.6653	0.62391	0.0:0.0:0.0:1.0	.	253;253	F8W8Q9;Q13190	.;STX5_HUMAN	R	253;253;199;157	ENSP00000367129:S253R;ENSP00000294179:S253R;ENSP00000378182:S199R;ENSP00000441428:S157R	ENSP00000294179:S253R	S	-	1	0	STX5	62348536	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.614000	0.82996	2.120000	0.65058	0.459000	0.35465	AGC	STX5	-	superfamily_t-SNARE	ENSG00000162236		0.567	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX5	HGNC	protein_coding	OTTHUMT00000290113.1	-	0	48	0	T	NM_003164		62591960	-1	tier1	-	no_errors	ENST00000294179	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G	G	62591960	T	G	62591960	3	3	65	1	0	0	0	0	1	0	0	0	15395	1580	55	4	322	4	STX5	11	62591960	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	35848726	62591960	72414556	134	17963											
BBS1	582	genome.wustl.edu	37	chr11	66297345	66297345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctacgtgctgcccgCgcctacctgcaggccctcga	4	7	11	19	5	0	0	0	0	0	0	1	1	0	0	5	1	6	2	5	1	2	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:66297345C>T	ENST00000318312.7	+	14	1446	c.1395C>T	c.(1393-1395)cgC>cgT	p.R465R	BBS1_ENST00000455748.2_Silent_p.R368R|BBS1_ENST00000393994.2_Silent_p.R336R|CTD-3074O7.11_ENST00000419755.3_Silent_p.R502R|ZDHHC24_ENST00000526986.1_Intron	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	465					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GTGCTGCCCGCGCCTACCTGC	0.677									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												0													75	51	59					11																	66297345		2200	4295	6495	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.1395C>T	11.37:g.66297345C>T			Q32MM9|Q32MN0|Q96SN4	Silent	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.R502	ENST00000318312.7	37	c.1506	CCDS8142.1	11																																																																																			CTD-3074O7.11	-	NULL	ENSG00000256349		0.677	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS1	Clone_based_vega_gene	protein_coding	OTTHUMT00000393235.2	-	0	78	0	C			66297345	1	tier1	-	no_errors	ENST00000419755	ensembl	human	known	74_37	silent	51.65	44	47	SNP	0.008	T	T	66297345	C	T	66297345	2	4	65	1	0	0	0	0	0	0	0	1	1336	755	27	1		1	BBS1	11	66297345	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	3705385	66297345	68709171	135	17964											
MAML2	84441	genome.wustl.edu	37	chr11	95826428	95826428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagcccatgttaaacaggCcattgccaggagaatgtgta	13	10	10	8	0	0	1	0	0	0	1	0	2	0	1	3	2	3	2	3	2	5	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:95826428C>T	ENST00000524717.1	-	2	2051	c.767G>A	c.(766-768)gGc>gAc	p.G256D		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	256					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTTAAACAGGCCATTGCCAGG	0.468			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													107	101	103					11																	95826428		1919	4135	6054	SO:0001583	missense	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.767G>A	11.37:g.95826428C>T	ENSP00000434552:p.Gly256Asp		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.G256D	ENST00000524717.1	37	c.767	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292358	0.10567	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.39997	1.05;1.05	5.42	3.51	0.40186	.	0.544123	0.18521	N	0.138775	T	0.15782	0.0380	N	0.04297	-0.235	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.30880	-0.9963	10	0.05833	T	0.94	-0.3148	6.095	0.20015	0.0:0.6378:0.1372:0.225	.	256	Q8IZL2	MAML2_HUMAN	D	256	ENSP00000434552:G256D;ENSP00000412394:G256D	ENSP00000412394:G256D	G	-	2	0	MAML2	95466076	0.131000	0.22433	0.001000	0.08648	0.969000	0.65631	1.378000	0.34328	0.617000	0.30160	0.455000	0.32223	GGC	MAML2	-	NULL	ENSG00000184384		0.468	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0	21	0	C			95826428	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.040	T	T	95826428	C	T	95826428	3	4	65	1	0	0	0	0	1	0	0	0	9244	739	26	3	2719	3	MAML2	11	95826428	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	29529083	95826428	39180088	136	17965											
DYNC2H1	79659	genome.wustl.edu	37	chr11	102991476	102991476	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgcacctgcggaacaaaAaatagcaggaaaattgaaaa	20	7	8	6	1	0	1	0	1	0	0	0	3	0	3	1	2	4	2	1	2	10	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:102991476A>T	ENST00000375735.2	+	8	1337	c.1193A>T	c.(1192-1194)aAa>aTa	p.K398I	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.K398I|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.K398I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	398	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCGGAACAAAAAATAGCAGGA	0.308																																																	0													30	29	29					11																	102991476		1799	4057	5856	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1193A>T	11.37:g.102991476A>T	ENSP00000364887:p.Lys398Ile		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K398I	ENST00000375735.2	37	c.1193	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096146	0.56075	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.56611	0.45;0.45;0.45	5.2	4.07	0.47477	Dynein heavy chain, domain-1 (1);	1.145470	0.07124	U	0.844426	T	0.60741	0.2292	L	0.60455	1.87	0.43457	D	0.99565	P;P;P	0.46220	0.874;0.741;0.551	P;B;B	0.48840	0.592;0.37;0.196	T	0.49969	-0.8882	10	0.72032	D	0.01	.	11.0888	0.48104	0.9268:0.0:0.0732:0.0	.	398;398;398	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	I	398	ENSP00000364887:K398I;ENSP00000334021:K398I;ENSP00000381167:K398I	ENSP00000334021:K398I	K	+	2	0	DYNC2H1	102496686	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.870000	0.92336	0.924000	0.37069	0.528000	0.53228	AAA	DYNC2H1	-	pfam_Dynein_heavy_dom-1	ENSG00000187240		0.308	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0	11	0	A	XM_370652		102991476	1			no_errors	ENST00000398093	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T	T	102991476	A	T	102991476	3	4	65	1	0	0	0	0	1	0	0	0	4860	14	1	5	1223	5	DYNC2H1	11	102991476	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	7165048	102991476	32015040	137	17966											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103187341	103187341	+	Frame_Shift_Del	DEL	T	T	-																															gtacaacattattgacagacTttttgatggtaagttctaac																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr11:103187341delT	ENST00000375735.2	+	80	11861	c.11717delT	c.(11716-11718)cttfs	p.L3906fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.L3913fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3906					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATTGACAGACTTTTTGATGGT	0.279																																																	0													40	36	37					11																	103187341		1766	4027	5793	SO:0001589	frameshift_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11717delT	11.37:g.103187341delT	ENSP00000364887:p.Leu3906fs		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F3914fs	ENST00000375735.2	37	c.11738	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.279	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0	16	0	T	XM_370652		103187341	1	tier1		no_errors	ENST00000398093	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.997	-	-	103187341	T	-	103187341	7	5	65	1	0	1	0	1	0	0	0	0	4860	1609	56	0	12060	0	DYNC2H1	11	103187341	Frame_Shift_Del	DEL	T	TCGA-L5-A4OR-01A-11D-A27G-09	195865	103187341	31819175	138	17967											
B4GALNT3	283358	genome.wustl.edu	37	chr12	663075	663075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgtaacacatctggcaaCctgctgcttccagagcagga	11	8	10	12	0	1	1	0	0	1	1	2	2	2	2	2	2	6	6	2	2	2	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:663075C>T	ENST00000266383.5	+	14	1999	c.1986C>T	c.(1984-1986)aaC>aaT	p.N662N		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	662					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CATCTGGCAACCTGCTGCTTC	0.572																																																	0													98	89	92					12																	663075		2203	4300	6503	SO:0001819	synonymous_variant	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1986C>T	12.37:g.663075C>T			Q6ZNC1|Q8N7T6	Silent	SNP	pfam_PA14,pfam_Chond_GalNAc,smart_PA14	p.N662	ENST00000266383.5	37	c.1986	CCDS8504.1	12																																																																																			B4GALNT3	-	NULL	ENSG00000139044		0.572	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	HGNC	protein_coding	OTTHUMT00000251406.2	-	0	24	0	C	NM_173593		663075	1	tier1	-	no_errors	ENST00000266383	ensembl	human	known	74_37	silent	65.52	10	19	SNP	1.000	T	T	663075	C	T	663075	2	4	65	1	0	0	0	0	0	0	0	1	1269	506	18	3		3	B4GALNT3	12	663075	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09		663075	133188820	139	17968											
WNT5B	81029	genome.wustl.edu	37	chr12	1742006	1742006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgccagcaccagttccGgcagcggcggtggaattgca	9	6	15	11	3	0	0	0	0	0	0	1	2	1	2	3	5	4	4	3	5	2	2	rs200966877		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:1742006G>A	ENST00000397196.2	+	3	495	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	WNT5B_ENST00000537031.1_Missense_Mutation_p.R88Q|WNT5B_ENST00000542408.1_Missense_Mutation_p.R88Q|WNT5B_ENST00000310594.3_Missense_Mutation_p.R88Q	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	88				R -> P (in Ref. 1; AAG38659). {ECO:0000305}.	cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CACCAGTTCCGGCAGCGGCGG	0.572																																																	0													65	65	65					12																	1742006		2203	4300	6503	SO:0001583	missense	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.263G>A	12.37:g.1742006G>A	ENSP00000380379:p.Arg88Gln		A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.R88Q	ENST00000397196.2	37	c.263	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.160623	0.94727	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.09	5.09	0.68999	.	0.047108	0.85682	D	0.000000	T	0.78780	0.4337	L	0.55834	1.745	0.58432	D	0.999998	P	0.52577	0.954	P	0.50109	0.631	T	0.80790	-0.1225	10	0.66056	D	0.02	.	12.3126	0.54938	0.0779:0.0:0.9221:0.0	.	88	Q9H1J7	WNT5B_HUMAN	Q	88	ENSP00000438414:R88Q;ENSP00000445395:R88Q;ENSP00000439312:R88Q;ENSP00000308887:R88Q;ENSP00000380379:R88Q;ENSP00000442348:R88Q;ENSP00000440600:R88Q	ENSP00000308887:R88Q	R	+	2	0	WNT5B	1612267	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.708000	0.74660	2.540000	0.85666	0.644000	0.83932	CGG	WNT5B	-	pfam_Wnt,smart_Wnt	ENSG00000111186		0.572	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	-	0	38	0	G			1742006	1	tier1	rs200966877	no_errors	ENST00000310594	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A	A	1742006	G	A	1742006	3	1	65	1	0	0	0	0	1	0	0	0	17441	1116	39	1	269	1	WNT5B	12	1742006	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	1078931	1742006	132109889	140	17969											
DYRK4	8798	genome.wustl.edu	37	chr12	4700374	4700374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcagagctcaaggcttcaGaaatacctttccaccctagc	11	9	6	15	0	3	2	3	0	0	2	4	2	4	2	4	1	3	2	4	1	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:4700374G>A	ENST00000540757.2	+	3	188	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	DYRK4_ENST00000543431.1_Missense_Mutation_p.E10K|DYRK4_ENST00000010132.5_Missense_Mutation_p.E10K	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	10						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGGCTTCAGAAATACCTTT	0.483																																																	0													85	78	80					12																	4700374		2203	4300	6503	SO:0001583	missense	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.28G>A	12.37:g.4700374G>A	ENSP00000441755:p.Glu10Lys		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E10K	ENST00000540757.2	37	c.28	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559115	0.65538	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.64438	-0.06;-0.1;-0.1;-0.1	4.34	4.34	0.51931	.	1.982340	0.02604	N	0.101343	T	0.75443	0.3850	L	0.57536	1.79	0.80722	D	1	P;P;D	0.61697	0.827;0.557;0.99	B;B;P	0.57620	0.359;0.085;0.824	T	0.62666	-0.6806	10	0.46703	T	0.11	.	13.0711	0.59061	0.0:0.0:1.0:0.0	.	125;10;10	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	K	125;10;10;10	ENSP00000437534:E125K;ENSP00000441755:E10K;ENSP00000010132:E10K;ENSP00000439697:E10K	ENSP00000010132:E10K	E	+	1	0	DYRK4	4570635	0.991000	0.36638	0.255000	0.24374	0.469000	0.32828	2.427000	0.44740	2.359000	0.80004	0.505000	0.49811	GAA	DYRK4	-	NULL	ENSG00000010219		0.483	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	HGNC	protein_coding	OTTHUMT00000398780.2	-	0	48	0	G			4700374	1	tier1	-	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	43.64	31	24	SNP	0.193	A	A	4700374	G	A	4700374	3	1	65	1	0	0	0	0	1	0	0	0	4872	943	33	3	30	3	DYRK4	12	4700374	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	2958368	4700374	129151521	141	17970											
LRRK2	120892	genome.wustl.edu	37	chr12	40689258	40689258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcaatcccatatgaggCattcagacagcatttcttct	12	13	5	11	0	4	2	2	1	2	1	5	2	5	2	1	1	2	2	1	1	3	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:40689258C>A	ENST00000298910.7	+	23	2966	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	LRRK2_ENST00000343742.2_Missense_Mutation_p.H970N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	970					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCATATGAGGCATTCAGACAG	0.333																																																	0													63	66	65					12																	40689258		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2908C>A	12.37:g.40689258C>A	ENSP00000298910:p.His970Asn		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.H970N	ENST00000298910.7	37	c.2908	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	6.939	0.543050	0.13250	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.23754	2.27;1.89	5.71	2.58	0.30949	.	1.038730	0.07474	N	0.902770	T	0.16471	0.0396	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.29212	-1.0019	10	0.24483	T	0.36	.	10.7709	0.46321	0.2865:0.5956:0.1179:0.0	.	970;970	E9PC85;Q5S007	.;LRRK2_HUMAN	N	970	ENSP00000341930:H970N;ENSP00000298910:H970N	ENSP00000298910:H970N	H	+	1	0	LRRK2	38975525	0.015000	0.18098	0.838000	0.33150	0.980000	0.70556	0.030000	0.13688	0.685000	0.31468	0.591000	0.81541	CAT	LRRK2	-	NULL	ENSG00000188906		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	24	0	C	XM_058513		40689258	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.137	A	A	40689258	C	A	40689258	3	1	65	1	0	0	0	0	1	0	0	0	9068	710	25	3	2998	3	LRRK2	12	40689258	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	35988884	40689258	93162637	142	17971											
SCN8A	6334	genome.wustl.edu	37	chr12	52156381	52156381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggttggaacatttttgacgGatttattgtctccctcagtt	8	17	9	7	1	2	1	1	1	1	0	3	3	2	3	1	3	1	2	1	3	2	7	rs368457455		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:52156381G>T	ENST00000354534.6	+	15	2643	c.2465G>T	c.(2464-2466)gGa>gTa	p.G822V	SCN8A_ENST00000545061.1_Missense_Mutation_p.G822V|SCN8A_ENST00000550891.1_Missense_Mutation_p.G822V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	822					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.G822E(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTTTTGACGGATTTATTGTC	0.413																																																	2	Substitution - Missense(2)	large_intestine(2)											159	158	159					12																	52156381		1892	4142	6034	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2465G>T	12.37:g.52156381G>T	ENSP00000346534:p.Gly822Val		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.G822V	ENST00000354534.6	37	c.2465	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529401	0.64860	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76	4.23	4.23	0.50019	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	L	0.33245	0.995	0.80722	D	1	D;D;D	0.69078	0.967;0.992;0.997	P;P;D	0.65987	0.854;0.876;0.94	D	0.98190	1.0462	10	0.51188	T	0.08	.	17.9135	0.88942	0.0:0.0:1.0:0.0	.	822;822;822	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	V	822;822;822;822;735	ENSP00000448415:G822V;ENSP00000346534:G822V;ENSP00000440360:G822V;ENSP00000347255:G822V	ENSP00000346534:G822V	G	+	2	0	SCN8A	50442648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.601000	0.98297	2.632000	0.89209	0.455000	0.32223	GGA	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.413	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3		0	28	0	G	NM_014191		52156381	1			no_errors	ENST00000354534	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	52156381	G	T	52156381	3	4	65	1	0	0	0	0	1	0	0	0	13969	1174	41	3	2519	3	SCN8A	12	52156381	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	11467123	52156381	81695514	143	17972											
KRT83	3889	genome.wustl.edu	37	chr12	52710769	52710769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagcttgacaaccacGgaggtgtctgagatgtggga	9	10	14	8	1	1	2	0	2	1	1	2	5	2	4	2	3	2	1	2	3	1	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:52710769G>A	ENST00000293670.3	-	5	851	c.789C>T	c.(787-789)tcC>tcT	p.S263S		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	263	Linker 12.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGACAACCACGGAGGTGTCTG	0.552																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0													149	130	137					12																	52710769		2203	4300	6503	SO:0001819	synonymous_variant	0			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"-", "Intermediate filaments type II, keratins (basic)"	6460	protein-coding gene	gene with protein product	"hard keratin type II"	602765	"keratin, hair, basic, 3"	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.789C>T	12.37:g.52710769G>A			A1A4S9|B2RC21|Q6NT21|Q9NSB3	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S263	ENST00000293670.3	37	c.789	CCDS8823.1	12																																																																																			KRT83	-	pfam_IF,superfamily_Prefoldin	ENSG00000170523		0.552	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	HGNC	protein_coding	OTTHUMT00000405182.1	-	0	66	0	G	NM_002282		52710769	-1	tier1	-	no_errors	ENST00000293670	ensembl	human	known	74_37	silent	29.58	50	21	SNP	0.001	A	A	52710769	G	A	52710769	2	1	65	1	0	0	0	0	0	0	0	1	8524	1103	39	1		1	KRT83	12	52710769	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	554388	52710769	81141126	144	17973											
OR6C74	254783	genome.wustl.edu	37	chr12	55641873	55641873	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcaaaagaaagagtgtcaTtaaataaagggatagctctg	18	8	10	5	0	2	2	1	0	1	2	2	3	2	3	0	1	2	2	0	1	8	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:55641873T>A	ENST00000343870.4	+	1	892	c.802T>A	c.(802-804)Tta>Ata	p.L268I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAGAGTGTCATTAAATAAAGG	0.393																																																	0													70	74	72					12																	55641873		2203	4300	6503	SO:0001583	missense	0				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"GPCR / Class A : Olfactory receptors"	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.802T>A	12.37:g.55641873T>A	ENSP00000342836:p.Leu268Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L268I	ENST00000343870.4	37	c.802	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	t	9.630	1.136054	0.21123	.	.	ENSG00000197706	ENST00000343870	T	0.00202	8.56	5.48	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.170458	0.28225	N	0.016121	T	0.00109	0.0003	N	0.25647	0.755	0.09310	N	1	B	0.17667	0.023	B	0.22386	0.039	T	0.13442	-1.0509	10	0.13108	T	0.6	.	4.9341	0.13932	0.0:0.1669:0.2996:0.5335	.	268	A6NCV1	O6C74_HUMAN	I	268	ENSP00000342836:L268I	ENSP00000342836:L268I	L	+	1	2	OR6C74	53928140	0.002000	0.14202	0.674000	0.29902	0.974000	0.67602	0.249000	0.18216	0.432000	0.26286	0.455000	0.32223	TTA	OR6C74	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197706		0.393	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	-	0	26	0	T			55641873	1	tier1	-	no_errors	ENST00000343870	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.000	A	A	55641873	T	A	55641873	3	1	65	1	0	0	0	0	1	0	0	0	11237	1490	52	5	804	5	OR6C74	12	55641873	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	2931104	55641873	78210022	145	17974											
BAZ2A	11176	genome.wustl.edu	37	chr12	56997326	56997326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccatctcttcgacccctgCggccagggacagctgctata	7	9	9	16	2	1	0	0	0	1	0	4	2	2	1	4	2	3	2	4	2	2	3	rs535118194		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:56997326C>T	ENST00000551812.1	-	17	3396	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1066H|BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1036H|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1038H	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1068					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCGACCCCTGCGGCCAGGGAC	0.502																																																	0													121	127	125					12																	56997326		2029	4153	6182	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3203G>A	12.37:g.56997326C>T	ENSP00000446880:p.Arg1068His		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R1068H	ENST00000551812.1	37	c.3203	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272570	0.80580	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.74421	-0.28;-0.28;-0.29;-0.84;-0.29	5.2	5.2	0.72013	.	0.122641	0.53938	D	0.000041	T	0.80691	0.4671	L	0.40543	1.245	0.42515	D	0.99298	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.972	T	0.81638	-0.0842	10	0.56958	D	0.05	.	14.6061	0.68481	0.0:1.0:0.0:0.0	.	1066;1068;1068	F8VU39;Q9UIF9-3;Q9UIF9	.;.;BAZ2A_HUMAN	H	1038;1036;1068;4;1066	ENSP00000368754:R1038H;ENSP00000179765:R1036H;ENSP00000446880:R1068H;ENSP00000448760:R4H;ENSP00000447941:R1066H	ENSP00000179765:R1036H	R	-	2	0	BAZ2A	55283593	0.980000	0.34600	1.000000	0.80357	0.625000	0.37756	3.974000	0.56852	2.591000	0.87537	0.655000	0.94253	CGC	BAZ2A	-	NULL	ENSG00000076108		0.502	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0	42	0	C	NM_013449		56997326	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	T	T	56997326	C	T	56997326	3	4	65	1	0	0	0	0	1	0	0	0	1332	768	27	1	2566	1	BAZ2A	12	56997326	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	1355453	56997326	76854569	146	17975											
GLI1	2735	genome.wustl.edu	37	chr12	57864851	57864851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcatatcctgaccccacCcaagaaacatggggtgagtt	11	8	9	13	0	1	3	1	2	0	1	2	3	2	3	5	2	1	1	5	2	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:57864851C>T	ENST00000228682.2	+	12	2419	c.2328C>T	c.(2326-2328)acC>acT	p.T776T	GLI1_ENST00000543426.1_Silent_p.T648T|GLI1_ENST00000546141.1_Silent_p.T735T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	776					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGACCCCACCCAAGAAACAT	0.602																																					Pancreas(157;841 1936 10503 41495 50368)												0													47	43	44					12																	57864851		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2328C>T	12.37:g.57864851C>T			D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T776	ENST00000228682.2	37	c.2328	CCDS8940.1	12																																																																																			GLI1	-	NULL	ENSG00000111087		0.602	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	-	0	11	0	C	NM_005269		57864851	1	tier1	-	no_errors	ENST00000228682	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.005	T	T	57864851	C	T	57864851	2	4	65	1	0	0	0	0	0	0	0	1	6463	610	22	3		3	GLI1	12	57864851	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	867525	57864851	75987044	147	17976											
DCN	1634	genome.wustl.edu	37	chr12	91550915	91550915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcttcttcattccctGgaaagccccattttcaattc	9	13	7	12	0	3	1	2	0	1	1	5	3	4	2	3	2	2	1	3	2	2	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:91550915G>T	ENST00000052754.5	-	5	1090	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.Q88K|DCN_ENST00000228329.5_Missense_Mutation_p.Q88K|DCN_ENST00000393155.1_Missense_Mutation_p.Q197K|DCN_ENST00000552962.1_Missense_Mutation_p.Q197K|DCN_ENST00000303320.3_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	197					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTCATTCCCTGGAAAGCCCCA	0.393																																																	0													139	134	135					12																	91550915		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.589C>A	12.37:g.91550915G>T	ENSP00000052754:p.Gln197Lys		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.Q197K	ENST00000052754.5	37	c.589	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	G	3.348	-0.133077	0.06711	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000552962;ENST00000420120	T;T;T;T;T	0.55930	0.49;3.65;0.49;0.49;3.65	5.69	2.67	0.31697	.	0.374361	0.30260	N	0.010031	T	0.24198	0.0586	N	0.16790	0.44	0.21499	N	0.999665	B;P	0.38250	0.0;0.624	B;B	0.25987	0.002;0.065	T	0.30679	-0.9970	10	0.02654	T	1	.	10.2709	0.43483	0.0664:0.0:0.6915:0.2421	.	197;88	P07585;P07585-2	PGS2_HUMAN;.	K	197;88;197;197;88	ENSP00000052754:Q197K;ENSP00000228329:Q88K;ENSP00000376862:Q197K;ENSP00000447654:Q197K;ENSP00000413723:Q88K	ENSP00000052754:Q197K	Q	-	1	0	DCN	90075046	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	2.651000	0.46674	1.348000	0.45733	0.585000	0.79938	CAG	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.393	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0	46	0	G	NM_133507		91550915	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.220	T	T	91550915	G	T	91550915	3	4	65	1	0	0	0	0	1	0	0	0	4306	1357	47	3	506	3	DCN	12	91550915	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	33686064	91550915	42300980	148	17977											
UTP20	27340	genome.wustl.edu	37	chr12	101774935	101774935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgaaaagtatctctctCgcctcttgccatcaattgca	11	12	6	12	1	4	2	1	1	3	1	6	2	4	2	2	0	2	2	2	0	4	3	rs372963217		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:101774935C>T	ENST00000261637.4	+	58	7776	c.7602C>T	c.(7600-7602)ctC>ctT	p.L2534L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2534					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTATCTCTCTCGCCTCTTGCC	0.383													C|||	1	0.000199681	0	0	5008	,	,		18681	0.001		0	False		,,,				2504	0																0								C		0,4406		0,0,2203	128	124	125		7602	0.1	1	12		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UTP20	NM_014503.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2534/2786	101774935	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7602C>T	12.37:g.101774935C>T			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L2534	ENST00000261637.4	37	c.7602	CCDS9081.1	12																																																																																			UTP20	-	NULL	ENSG00000120800		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0	24	0	C	NM_014503		101774935	1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.923	T	T	101774935	C	T	101774935	2	4	65	1	0	0	0	0	0	0	0	1	17148	871	31	1		1	UTP20	12	101774935	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	10224020	101774935	32076960	149	17978											
TBX3	6926	genome.wustl.edu	37	chr12	115112602	115112602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatgctcctctttgctctCggcctcggcgtcgctctcac	2	12	9	18	4	3	0	1	0	3	0	8	0	4	0	3	2	2	3	3	2	0	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:115112602C>T	ENST00000257566.3	-	7	1527	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	TBX3_ENST00000349155.2_Missense_Mutation_p.E360K	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	380					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCTTTGCTCTCGGCCTCGGCG	0.622																																																	0			GRCh37	CM994611	TBX3	M							10	11	11					12																	115112602		2187	4260	6447	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1138G>A	12.37:g.115112602C>T	ENSP00000257566:p.Glu380Lys		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.E380K	ENST00000257566.3	37	c.1138	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988475	0.74589	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.87887	-2.31;-2.3	4.72	4.72	0.59763	Transcription factor, T-box, region of unknown function (1);	0.376195	0.32055	N	0.006654	T	0.60301	0.2258	N	0.00230	-1.795	0.80722	D	1	P;P	0.48503	0.891;0.911	B;B	0.38378	0.178;0.272	T	0.72523	-0.4267	10	0.17369	T	0.5	.	16.8583	0.86011	0.0:1.0:0.0:0.0	.	360;380	O15119-2;O15119	.;TBX3_HUMAN	K	360;380;380	ENSP00000257567:E360K;ENSP00000257566:E380K	ENSP00000257566:E380K	E	-	1	0	TBX3	113596985	1.000000	0.71417	0.461000	0.27105	0.966000	0.64601	7.027000	0.76463	2.441000	0.82636	0.655000	0.94253	GAG	TBX3	-	pfam_TBX	ENSG00000135111		0.622	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	-	0	30	0	C	NM_016569, NM_005996		115112602	-1	tier1	-	no_errors	ENST00000257566	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.996	T	T	115112602	C	T	115112602	3	4	65	1	0	0	0	0	1	0	0	0	15706	893	31	1	1101	1	TBX3	12	115112602	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	13337667	115112602	18739293	150	17979											
OGFOD2	79676	genome.wustl.edu	37	chr12	123461286	123461286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgagttcctaccacccggCacggcctgaggtctacgact	7	7	11	16	5	1	1	0	1	1	0	2	3	2	1	4	3	2	2	4	3	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:123461286C>T	ENST00000228922.7	+	3	307	c.275C>T	c.(274-276)gCa>gTa	p.A92V	OGFOD2_ENST00000538755.1_5'UTR|OGFOD2_ENST00000545317.1_5'UTR|OGFOD2_ENST00000538628.1_5'UTR|OGFOD2_ENST00000536150.1_5'UTR|OGFOD2_ENST00000454694.2_5'UTR|OGFOD2_ENST00000545612.1_5'UTR|RP11-197N18.2_ENST00000540866.2_RNA|ABCB9_ENST00000542678.1_Intron|ABCB9_ENST00000392439.3_5'Flank|OGFOD2_ENST00000397389.2_Missense_Mutation_p.A32V|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000542117.1_3'UTR			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	92							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	TACCACCCGGCACGGCCTGAG	0.652																																																	0													38	48	44					12																	123461286		2189	4286	6475	SO:0001583	missense	0			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.275C>T	12.37:g.123461286C>T	ENSP00000228922:p.Ala92Val		B3KT24|Q4KN13|Q6N023|Q9H8K6	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.A92V	ENST00000228922.7	37	c.275		12	.	.	.	.	.	.	.	.	.	.	C	7.920	0.738443	0.15574	.	.	ENSG00000111325	ENST00000397389;ENST00000228922;ENST00000537966	D;D	0.85556	-2.0;-2.0	5.67	0.147	0.14838	.	0.519558	0.22682	N	0.056940	T	0.73528	0.3598	L	0.54323	1.7	0.09310	N	1	P;B;B	0.37731	0.607;0.001;0.003	B;B;B	0.30782	0.12;0.003;0.004	T	0.60601	-0.7231	10	0.22109	T	0.4	-2.0736	5.6122	0.17412	0.1563:0.3836:0.0:0.4601	.	73;92;32	B4DZU3;Q6N063;Q6N063-2	.;OGFD2_HUMAN;.	V	32;92;165	ENSP00000380544:A32V;ENSP00000228922:A92V	ENSP00000228922:A92V	A	+	2	0	OGFOD2	122027239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.379000	0.07437	0.079000	0.16929	-0.142000	0.14014	GCA	OGFOD2	-	NULL	ENSG00000111325		0.652	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1	-	0	52	0	C	NM_024623		123461286	1	tier1	-	no_errors	ENST00000228922	ensembl	human	known	74_37	missense	48.94	23	23	SNP	0.000	T	T	123461286	C	T	123461286	3	4	65	1	0	0	0	0	1	0	0	0	10881	710	25	3	101	3	OGFOD2	12	123461286	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	8348684	123461286	10390609	151	17980											
TMEM132B	114795	genome.wustl.edu	37	chr12	125834406	125834406	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacagtgaccttacggAagatctaccctgtgtcaaga	12	9	11	9	1	2	4	1	2	1	2	2	6	2	6	2	2	2	0	2	2	4	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:125834406A>G	ENST00000299308.3	+	2	469	c.461A>G	c.(460-462)gAa>gGa	p.E154G	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	154						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GACCTTACGGAAGATCTACCC	0.552																																																	0													112	112	112					12																	125834406		2013	4184	6197	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.461A>G	12.37:g.125834406A>G	ENSP00000299308:p.Glu154Gly		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.E154G	ENST00000299308.3	37	c.461	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	A	12.01	1.810078	0.32053	.	.	ENSG00000139364	ENST00000299308	T	0.22539	1.95	5.58	2.94	0.34122	.	.	.	.	.	T	0.14313	0.0346	L	0.28400	0.85	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.07462	-1.0771	9	0.35671	T	0.21	.	8.094	0.30818	0.7921:0.1329:0.075:0.0	.	154	Q14DG7	T132B_HUMAN	G	154	ENSP00000299308:E154G	ENSP00000299308:E154G	E	+	2	0	TMEM132B	124400359	1.000000	0.71417	0.004000	0.12327	0.335000	0.28730	6.008000	0.70739	0.291000	0.22468	0.533000	0.62120	GAA	TMEM132B	-	NULL	ENSG00000139364		0.552	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0	36	0	A	NM_052907		125834406	1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.963	G	G	125834406	A	G	125834406	3	3	65	1	0	0	0	0	1	0	0	0	16093	246	9	4	467	4	TMEM132B	12	125834406	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	2373120	125834406	8017489	152	17981											
ANKLE2	23141	genome.wustl.edu	37	chr12	133331423	133331423	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggattcaggcccacacTgtaaccaaaatctctgtctt	11	11	8	11	0	3	0	1	0	2	0	4	2	3	2	2	3	1	1	2	3	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr12:133331423T>G	ENST00000357997.5	-	2	567	c.478A>C	c.(478-480)Agt>Cgt	p.S160R	ANKLE2_ENST00000539605.1_Missense_Mutation_p.S98R|ANKLE2_ENST00000337516.5_Missense_Mutation_p.S160R	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	160					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGCCCACACTGTAACCAAAA	0.542																																																	0													68	70	69					12																	133331423		1925	4133	6058	SO:0001583	missense	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.478A>C	12.37:g.133331423T>G	ENSP00000350686:p.Ser160Arg		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.S160R	ENST00000357997.5	37	c.478	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939308	0.52972	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.31769	1.92;1.91;1.48	5.62	1.8	0.24995	.	0.336022	0.39146	N	0.001459	T	0.34454	0.0898	M	0.70595	2.14	0.09310	N	1	D;P	0.54964	0.969;0.948	P;P	0.48921	0.595;0.467	T	0.22800	-1.0206	10	0.56958	D	0.05	-24.4762	4.8284	0.13428	0.1342:0.2553:0.0:0.6105	.	160;160	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	R	98;160;160	ENSP00000446268:S98R;ENSP00000350686:S160R;ENSP00000337651:S160R	ENSP00000337651:S160R	S	-	1	0	ANKLE2	131841496	0.029000	0.19370	0.001000	0.08648	0.760000	0.43138	1.802000	0.38853	0.064000	0.16427	0.529000	0.55759	AGT	ANKLE2	-	NULL	ENSG00000176915		0.542	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	-	0	39	0	T			133331423	-1	tier1	-	no_errors	ENST00000357997	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.006	G	G	133331423	T	G	133331423	3	3	65	1	0	0	0	0	1	0	0	0	633	1580	55	4	2386	4	ANKLE2	12	133331423	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	7497017	133331423	520472	153	17982											
STARD13	90627	genome.wustl.edu	37	chr13	33685942	33685942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctgtcgcattccatgatCatgtgcgctagcccctgagc	7	11	10	13	2	2	2	1	2	1	0	4	2	3	2	3	0	3	2	3	0	1	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:33685942C>T	ENST00000336934.5	-	10	2696	c.2580G>A	c.(2578-2580)atG>atA	p.M860I	STARD13_ENST00000255486.4_Missense_Mutation_p.M852I|STARD13_ENST00000399365.3_Missense_Mutation_p.M742I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	860	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATTCCATGATCATGTGCGCTA	0.488																																																	0													157	129	139					13																	33685942		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2580G>A	13.37:g.33685942C>T	ENSP00000338785:p.Met860Ile		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.M860I	ENST00000336934.5	37	c.2580	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.480943	0.96307	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.12147	2.71;2.75;2.76	5.61	5.61	0.85477	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.89414	3.03	0.80722	D	1	D;D;P	0.67145	0.996;0.974;0.955	D;P;P	0.71870	0.975;0.882;0.826	T	0.52290	-0.8595	10	0.72032	D	0.01	.	20.0051	0.97433	0.0:1.0:0.0:0.0	.	825;860;852	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	I	742;852;860	ENSP00000382300:M742I;ENSP00000255486:M852I;ENSP00000338785:M860I	ENSP00000255486:M852I	M	-	3	0	STARD13	32583942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.681000	0.84073	2.799000	0.96334	0.650000	0.86243	ATG	STARD13	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000133121		0.488	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	45	0	C	NM_001243466		33685942	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	12.16	65	9	SNP	1.000	T	T	33685942	C	T	33685942	3	4	65	1	0	0	0	0	1	0	0	0	15303	826	29	3	781	3	STARD13	13	33685942	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09		33685942	81483936	154	17983											
PCDH9	5101	genome.wustl.edu	37	chr13	67799860	67799860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagttcagccggcaggcTtattgtcccattgataggtt	7	13	10	11	1	1	1	1	1	0	0	3	1	3	1	3	3	1	4	3	3	2	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:67799860T>C	ENST00000377865.2	-	1	2847	c.2713A>G	c.(2713-2715)Agc>Ggc	p.S905G	PCDH9_ENST00000328454.5_Missense_Mutation_p.S905G|PCDH9_ENST00000544246.1_Missense_Mutation_p.S905G|PCDH9_ENST00000456367.1_Missense_Mutation_p.S905G|PCDH9_ENST00000377861.3_Missense_Mutation_p.S905G			Q9HC56	PCDH9_HUMAN	protocadherin 9	905					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCCGGCAGGCTTATTGTCCCA	0.473																																																	0													102	104	103					13																	67799860		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2713A>G	13.37:g.67799860T>C	ENSP00000367096:p.Ser905Gly		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S905G	ENST00000377865.2	37	c.2713	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	T	10.70	1.425316	0.25639	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.53	5.53	0.82687	Protocadherin (1);	0.041576	0.85682	D	0.000000	T	0.27900	0.0687	L	0.28192	0.835	0.58432	D	0.999998	B;B;B;B	0.20368	0.044;0.002;0.036;0.044	B;B;B;B	0.19946	0.027;0.01;0.016;0.027	T	0.05566	-1.0877	10	0.22706	T	0.39	.	15.6523	0.77108	0.0:0.0:0.0:1.0	.	905;905;905;905	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	G	905	ENSP00000442186:S905G;ENSP00000367096:S905G;ENSP00000401699:S905G;ENSP00000332060:S905G;ENSP00000367092:S905G	ENSP00000332060:S905G	S	-	1	0	PCDH9	66697861	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	6.296000	0.72751	2.105000	0.64084	0.459000	0.35465	AGC	PCDH9	-	pfam_Protocadherin	ENSG00000184226		0.473	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	35	0	T	NM_203487		67799860	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	C	C	67799860	T	C	67799860	3	2	65	1	0	0	0	0	1	0	0	0	11557	1609	56	4	1016	4	PCDH9	13	67799860	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	34113918	67799860	47370018	155	17984											
MYCBP2	23077	genome.wustl.edu	37	chr13	77724939	77724939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catatgaaacatctagctttGgtgatgccagccctccataa	12	11	7	11	0	1	2	0	2	1	0	2	2	2	2	3	1	4	1	3	1	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:77724939G>A	ENST00000544440.2	-	47	6964	c.6947C>T	c.(6946-6948)cCa>cTa	p.P2316L	MYCBP2_ENST00000357337.6_Missense_Mutation_p.P2316L|MYCBP2_ENST00000407578.2_Missense_Mutation_p.P2354L|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCTAGCTTTGGTGATGCCAG	0.373																																																	0													200	183	189					13																	77724939		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6947C>T	13.37:g.77724939G>A	ENSP00000444596:p.Pro2316Leu			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.P2354L	ENST00000544440.2	37	c.7061		13	.	.	.	.	.	.	.	.	.	.	G	32	5.127254	0.94473	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.34472	1.37;1.36;1.37	5.45	5.45	0.79879	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.67397	2.05	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.63585	-0.6604	10	0.87932	D	0	.	19.2961	0.94122	0.0:0.0:1.0:0.0	.	2316	O75592	MYCB2_HUMAN	L	2316;2354;2316	ENSP00000349892:P2316L;ENSP00000384288:P2354L;ENSP00000444596:P2316L	ENSP00000349892:P2316L	P	-	2	0	MYCBP2	76622940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.397000	0.97276	2.546000	0.85860	0.650000	0.86243	CCA	MYCBP2	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,pfscan_Filamin/ABP280_repeat-like	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	42	0	G	NM_015057		77724939	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	27.08	34	13	SNP	1.000	A	A	77724939	G	A	77724939	3	1	65	1	0	0	0	0	1	0	0	0	10056	1348	47	3	7123	3	MYCBP2	13	77724939	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	9925079	77724939	37444939	156	17985											
MYCBP2	23077	genome.wustl.edu	37	chr13	77792007	77792007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatgtgaagacctgtccatCcattaaaagtactgccgtat	14	11	7	9	1	0	2	0	1	0	1	2	2	2	2	4	0	2	2	4	0	6	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:77792007C>A	ENST00000544440.2	-	21	2928	c.2911G>T	c.(2911-2913)Gat>Tat	p.D971Y	MYCBP2_ENST00000357337.6_Missense_Mutation_p.D971Y|MYCBP2_ENST00000407578.2_Missense_Mutation_p.D1009Y|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGTCCATCCATTAAAAGT	0.373																																																	0													117	117	117					13																	77792007		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2911G>T	13.37:g.77792007C>A	ENSP00000444596:p.Asp971Tyr			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D1009Y	ENST00000544440.2	37	c.3025		13	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528496	0.85706	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	D;D;D	0.83335	-1.71;-1.71;-1.71	5.65	5.65	0.86999	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.89460	0.3736	10	0.72032	D	0.01	.	19.7242	0.96154	0.0:1.0:0.0:0.0	.	971	O75592	MYCB2_HUMAN	Y	971;1009;971	ENSP00000349892:D971Y;ENSP00000384288:D1009Y;ENSP00000444596:D971Y	ENSP00000349892:D971Y	D	-	1	0	MYCBP2	76690008	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.658000	0.90341	0.460000	0.39030	GAT	MYCBP2	-	superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1		0	30	0	C	NM_015057		77792007	-1			no_errors	ENST00000407578	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	77792007	C	A	77792007	3	1	65	1	0	0	0	0	1	0	0	0	10056	855	30	3	11263	3	MYCBP2	13	77792007	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	67068	77792007	37377871	157	17986											
FAM70B	348013	genome.wustl.edu	37	chr13	114504678	114504678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggcgtcagcggctgccagGacgtgctgcacctgtaccgc	5	7	14	15	5	1	0	1	0	0	0	2	1	1	1	3	3	5	4	3	3	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr13:114504678G>A	ENST00000375353.3	+	7	589	c.562G>A	c.(562-564)Gac>Aac	p.D188N		NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	188						integral component of membrane (GO:0016021)											CGGCTGCCAGGACGTGCTGCA	0.657																																																	0													30	25	27					13																	114504678		2201	4294	6495	SO:0001583	missense	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"family with sequence similarity 70, member B"	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.562G>A	13.37:g.114504678G>A	ENSP00000364502:p.Asp188Asn			Missense_Mutation	SNP	NULL	p.D188N	ENST00000375353.3	37	c.562	CCDS45071.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694815	0.88830	.	.	ENSG00000184497	ENST00000375353	T	0.59906	0.23	4.69	4.69	0.59074	.	.	.	.	.	T	0.77968	0.4210	M	0.82716	2.605	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.82232	-0.0559	9	0.72032	D	0.01	-30.6861	16.3895	0.83528	0.0:0.0:1.0:0.0	.	188	Q8WV15	FA70B_HUMAN	N	188	ENSP00000364502:D188N	ENSP00000364502:D188N	D	+	1	0	FAM70B	113609265	1.000000	0.71417	0.888000	0.34837	0.440000	0.31957	5.393000	0.66279	2.140000	0.66376	0.313000	0.20887	GAC	TMEM255B	-	NULL	ENSG00000184497		0.657	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM255B	HGNC	protein_coding	OTTHUMT00000045953.4	-	0	83	0	G	NM_182614		114504678	1	tier1	-	no_errors	ENST00000375353	ensembl	human	known	74_37	missense	29.85	47	20	SNP	1.000	A	A	114504678	G	A	114504678	3	1	65	1	0	0	0	0	1	0	0	0	5628	1174	41	3	588	3	FAM70B	13	114504678	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	36712671	114504678	665200	158	17987											
PRKD1	5587	genome.wustl.edu	37	chr14	30066913	30066913	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacccaccactgacctccGgaaagacttctctccaatga	11	8	7	15	1	1	3	0	2	1	1	4	4	3	4	5	2	1	1	5	2	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:30066913G>T	ENST00000331968.5	-	16	2447	c.2218C>A	c.(2218-2220)Cgg>Agg	p.R740R	PRKD1_ENST00000415220.2_Silent_p.R748R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ACTGACCTCCGGAAAGACTTC	0.483																																																	0													69	71	70					14																	30066913		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2218C>A	14.37:g.30066913G>T			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R740	ENST00000331968.5	37	c.2218	CCDS9637.1	14																																																																																			PRKD1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184304		0.483	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2		0	22	0	G	NM_002742		30066913	-1			no_errors	ENST00000331968	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	T	T	30066913	G	T	30066913	2	4	65	1	0	0	0	0	0	0	0	1	12560	1115	39	2		2	PRKD1	14	30066913	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09		30066913	77282627	159	17988											
HECTD1	25831	genome.wustl.edu	37	chr14	31647370	31647370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatccaggtagtatgttatGgcacgggctgtcacctctaa	10	11	10	10	1	2	0	1	0	1	0	3	0	3	0	2	3	0	5	2	3	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:31647370G>A	ENST00000399332.1	-	3	719	c.231C>T	c.(229-231)gcC>gcT	p.A77A	HECTD1_ENST00000553700.1_Silent_p.A77A	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	77					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGTATGTTATGGCACGGGCTG	0.433																																																	0													140	130	133					14																	31647370		1905	4122	6027	SO:0001819	synonymous_variant	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.231C>T	14.37:g.31647370G>A			D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.A77	ENST00000399332.1	37	c.231	CCDS41939.1	14																																																																																			HECTD1	-	superfamily_ARM-type_fold	ENSG00000092148		0.433	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	-	0	49	0	G			31647370	-1	tier1	-	no_errors	ENST00000399332	ensembl	human	known	74_37	silent	12.00	66	9	SNP	1.000	A	A	31647370	G	A	31647370	2	1	65	1	0	0	0	0	0	0	0	1	7066	1335	47	3		3	HECTD1	14	31647370	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	1580457	31647370	75702170	160	17989											
SPTB	6710	genome.wustl.edu	37	chr14	65253541	65253541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggccctgcagggattGctgcaggccctgccacagct	5	8	12	16	0	0	0	0	0	0	0	1	1	1	1	4	3	5	4	4	3	0	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:65253541G>T	ENST00000389721.5	-	15	3174	c.3142C>A	c.(3142-3144)Caa>Aaa	p.Q1048K	SPTB_ENST00000556626.1_Missense_Mutation_p.Q1048K|SPTB_ENST00000389720.3_Missense_Mutation_p.Q1048K|SPTB_ENST00000389722.3_Missense_Mutation_p.Q1048K|SPTB_ENST00000542895.1_Missense_Mutation_p.Q1048K	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1048					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCAGGGATTGCTGCAGGCCC	0.612																																																	0													53	58	56					14																	65253541		2203	4300	6503	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3142C>A	14.37:g.65253541G>T	ENSP00000374371:p.Gln1048Lys		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.Q1048K	ENST00000389721.5	37	c.3142	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	G	0.151	-1.091508	0.01858	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	4.89	1.59	0.23543	.	0.848692	0.10614	N	0.654166	T	0.22282	0.0537	N	0.04768	-0.165	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.21724	-1.0237	10	0.06891	T	0.86	.	8.9814	0.35968	0.0:0.5644:0.2258:0.2098	.	1048;1052	P11277;Q59FP5	SPTB1_HUMAN;.	K	1052;1048;1048;1048;1048;1048	ENSP00000374372:Q1048K;ENSP00000451752:Q1048K;ENSP00000374371:Q1048K;ENSP00000443882:Q1048K;ENSP00000374370:Q1048K	ENSP00000374370:Q1048K	Q	-	1	0	SPTB	64323294	0.000000	0.05858	0.831000	0.32960	0.685000	0.39939	-1.112000	0.03299	0.558000	0.29135	0.549000	0.68633	CAA	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.612	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	-	0	15	0	G			65253541	-1	tier1	-	no_errors	ENST00000389722	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.505	T	T	65253541	G	T	65253541	3	4	65	1	0	0	0	0	1	0	0	0	15165	1328	46	3	3997	3	SPTB	14	65253541	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	33606171	65253541	42095999	161	17990											
EIF2B2	8892	genome.wustl.edu	37	chr14	75470393	75470393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgattaatgagctgctaGtggagctgggtaagaggcct	10	9	16	6	1	0	2	0	1	0	1	0	4	0	3	1	4	3	4	1	4	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:75470393G>C	ENST00000266126.5	+	3	504	c.424G>C	c.(424-426)Gtg>Ctg	p.V142L	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	142					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGAGCTGCTAGTGGAGCTGGG	0.502																																																	0													81	70	73					14																	75470393		2203	4300	6503	SO:0001583	missense	0				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.424G>C	14.37:g.75470393G>C	ENSP00000266126:p.Val142Leu		O43201	Missense_Mutation	SNP	pfam_IF-2B-related	p.V142L	ENST00000266126.5	37	c.424	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324117	0.41197	.	.	ENSG00000119718	ENST00000266126	D	0.92397	-3.03	5.57	4.48	0.54585	.	0.108090	0.64402	D	0.000007	T	0.80428	0.4621	N	0.08118	0	0.34390	D	0.69403	B	0.13594	0.008	B	0.18263	0.021	T	0.77016	-0.2744	10	0.28530	T	0.3	-24.8471	6.4417	0.21853	0.2601:0.0:0.7399:0.0	.	142	P49770	EI2BB_HUMAN	L	142	ENSP00000266126:V142L	ENSP00000266126:V142L	V	+	1	0	EIF2B2	74540146	0.998000	0.40836	0.995000	0.50966	0.998000	0.95712	3.223000	0.51231	2.604000	0.88044	0.561000	0.74099	GTG	EIF2B2	-	pfam_IF-2B-related	ENSG00000119718		0.502	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	-	0	76	0	G	NM_014239		75470393	1	tier1	-	no_errors	ENST00000266126	ensembl	human	known	74_37	missense	9.89	82	9	SNP	0.996	C	C	75470393	G	C	75470393	3	2	65	1	0	0	0	0	1	0	0	0	5015	1029	36	5	434	5	EIF2B2	14	75470393	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	10216852	75470393	31879147	162	17991											
C14orf4	64207	genome.wustl.edu	37	chr14	77492176	77492176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgctgctgtttcgccGcgccgacgcagtggtagagt	4	10	16	11	5	0	1	0	0	0	1	1	2	0	1	2	2	2	6	2	2	1	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr14:77492176G>A	ENST00000238647.3	-	1	2858	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	654					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTGTTTCGCCGCGCCGACGCA	0.672																																																	0													16	17	17					14																	77492176		2183	4278	6461	SO:0001583	missense	0			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"enhanced at puberty 1"	611720	"chromosome 14 open reading frame 4"	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1960C>T	14.37:g.77492176G>A	ENSP00000238647:p.Arg654Trp		Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.R654W	ENST00000238647.3	37	c.1960	CCDS9854.1	14	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299900	0.40694	.	.	ENSG00000119669	ENST00000238647	T	0.70516	-0.49	4.3	-1.89	0.07689	.	0.168662	0.37012	U	0.002299	T	0.78521	0.4296	L	0.57536	1.79	0.38758	D	0.954259	D	0.89917	1.0	D	0.91635	0.999	T	0.77981	-0.2383	10	0.66056	D	0.02	.	14.014	0.64513	0.0:0.0:0.3325:0.6675	.	654	Q9H1B7	I2BPL_HUMAN	W	654	ENSP00000238647:R654W	ENSP00000238647:R654W	R	-	1	2	IRF2BPL	76561929	0.251000	0.23961	0.020000	0.16555	0.694000	0.40290	0.285000	0.18883	-0.658000	0.05366	0.462000	0.41574	CGG	IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000119669		0.672	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	-	0	12	0	G	NM_024496		77492176	-1	tier1	-	no_errors	ENST00000238647	ensembl	human	known	74_37	missense	56.52	10	13	SNP	0.393	A	A	77492176	G	A	77492176	3	1	65	1	0	0	0	0	1	0	0	0	1778	1086	38	1	434	1	C14orf4	14	77492176	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	2021783	77492176	29857364	163	17992											
DMXL2	23312	genome.wustl.edu	37	chr15	51763434	51763434	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttacctttgcaacaaaatAatcccacatactaagttcgg	14	11	4	12	1	0	0	0	0	0	0	2	0	1	0	3	1	4	2	3	1	7	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:51763434A>C	ENST00000251076.5	-	29	7662	c.7375T>G	c.(7375-7377)Tat>Gat	p.Y2459D	DMXL2_ENST00000449909.3_Missense_Mutation_p.Y1823D|DMXL2_ENST00000543779.2_Missense_Mutation_p.Y2460D|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2459						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAACAAAATAATCCCACATA	0.413																																																	0													109	107	108					15																	51763434		2196	4293	6489	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"WD repeat domain containing"	2938	protein-coding gene	gene with protein product	"rabconnectin 3"	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7375T>G	15.37:g.51763434A>C	ENSP00000251076:p.Tyr2459Asp		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y2460D	ENST00000251076.5	37	c.7378	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	A	21.9	4.222363	0.79464	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.32272	1.6;1.6;1.46	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.87578	0.998;0.991;0.994;0.997	T	0.62978	-0.6739	10	0.87932	D	0	.	15.4923	0.75619	1.0:0.0:0.0:0.0	.	2460;1823;2459;2460	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	D	2459;2460;1823;4	ENSP00000251076:Y2459D;ENSP00000441858:Y2460D;ENSP00000400855:Y1823D	ENSP00000251076:Y2459D	Y	-	1	0	DMXL2	49550726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.529000	0.90602	2.244000	0.73946	0.459000	0.35465	TAT	DMXL2	-	NULL	ENSG00000104093		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0	29	0	A	NM_015263		51763434	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	C	C	51763434	A	C	51763434	3	2	65	1	0	0	0	0	1	0	0	0	4609	362	13	4	1795	4	DMXL2	15	51763434	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09		51763434	50767958	164	17993											
DAPK2	23604	genome.wustl.edu	37	chr15	64275755	64275755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatgagcaccacgtcGgtgcggttctcatagacgtc	9	9	12	11	4	2	2	2	1	1	1	5	3	2	3	1	3	2	2	1	3	2	2	rs541062258		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:64275755G>A	ENST00000457488.1	-	3	321	c.291C>T	c.(289-291)acC>acT	p.T97T	DAPK2_ENST00000558069.1_Silent_p.T97T|DAPK2_ENST00000261891.3_Silent_p.T97T|DAPK2_ENST00000558482.1_5'UTR	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCACCACGTCGGTGCGGTTCT	0.647																																																	0													64	62	63					15																	64275755		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.291C>T	15.37:g.64275755G>A			E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T97	ENST00000457488.1	37	c.291	CCDS10188.1	15																																																																																			DAPK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000035664		0.647	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	-	0	42	0	G	NM_014326		64275755	-1	tier1	-	no_errors	ENST00000261891	ensembl	human	known	74_37	silent	11.11	56	7	SNP	0.998	A	A	64275755	G	A	64275755	2	1	65	1	0	0	0	0	0	0	0	1	4245	1103	39	1		1	DAPK2	15	64275755	Silent	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	12512321	64275755	38255637	165	17994											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84581902	84581902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccgggtgtgcaggtcCgtgaggtgaagtgccgtgtg	4	9	21	7	3	0	2	0	2	0	0	1	2	1	2	3	4	2	1	3	4	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:84581902C>G	ENST00000286744.5	+	16	1983	c.1759C>G	c.(1759-1761)Cgt>Ggt	p.R587G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	587	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTCCGTGAGGTGAA	0.602																																																	0													90	82	84					15																	84581902		2203	4300	6503	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1759C>G	15.37:g.84581902C>G	ENSP00000286744:p.Arg587Gly		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.R587G	ENST00000286744.5	37	c.1759	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	16.06	3.015512	0.54468	.	.	ENSG00000156218	ENST00000286744	T	0.80824	-1.42	4.9	4.9	0.64082	.	0.070349	0.53938	D	0.000047	D	0.93174	0.7826	H	0.98048	4.135	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95101	0.8230	10	0.87932	D	0	.	13.1271	0.59363	0.16:0.84:0.0:0.0	.	587;587	P82987-2;P82987	.;ATL3_HUMAN	G	587	ENSP00000286744:R587G	ENSP00000286744:R587G	R	+	1	0	ADAMTSL3	82372906	1.000000	0.71417	0.100000	0.21137	0.343000	0.28985	4.242000	0.58714	2.246000	0.74042	0.563000	0.77884	CGT	ADAMTSL3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156218		0.602	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	-	0	29	0	C	NM_207517		84581902	1	tier1	-	no_errors	ENST00000286744	ensembl	human	known	74_37	missense	30.36	39	17	SNP	1.000	G	G	84581902	C	G	84581902	3	3	65	1	0	0	0	0	1	0	0	0	276	652	23	5	1817	5	ADAMTSL3	15	84581902	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	20306147	84581902	17949490	166	17995											
RHCG	51458	genome.wustl.edu	37	chr15	90026363	90026363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggaagaaagtcatgaTgagcagctgaatggggctga	13	8	14	6	0	1	5	1	4	0	1	1	6	1	6	0	3	2	3	0	3	3	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr15:90026363T>C	ENST00000268122.4	-	3	525	c.457A>G	c.(457-459)Atc>Gtc	p.I153V	RHCG_ENST00000544600.1_Missense_Mutation_p.I153V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	153					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AAAGTCATGATGAGCAGCTGA	0.547																																																	0													71	55	61					15																	90026363		2200	4299	6499	SO:0001583	missense	0			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"Solute carriers"	18140	protein-coding gene	gene with protein product		605381	"chromosome 15 open reading frame 6", "Rhesus blood group, C glycoprotein"	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.457A>G	15.37:g.90026363T>C	ENSP00000268122:p.Ile153Val		A8K4D4|Q6X3Y4	Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.I153V	ENST00000268122.4	37	c.457	CCDS10351.1	15	.	.	.	.	.	.	.	.	.	.	T	7.659	0.684452	0.14973	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	T;T	0.22336	1.96;1.96	5.47	1.75	0.24633	Ammonium transporter AmtB-like (3);	0.228971	0.47093	N	0.000251	T	0.07908	0.0198	N	0.04805	-0.155	0.48135	D	0.999595	B;B	0.13594	0.008;0.008	B;B	0.18871	0.023;0.023	T	0.29150	-1.0021	9	.	.	.	-25.0842	5.3848	0.16213	0.0:0.2117:0.2818:0.5065	.	153;153	A8K4D4;Q9UBD6	.;RHCG_HUMAN	V	153;153;144	ENSP00000438123:I153V;ENSP00000268122:I153V	.	I	-	1	0	RHCG	87827367	0.957000	0.32711	0.999000	0.59377	0.873000	0.50193	0.056000	0.14256	0.038000	0.15604	0.533000	0.62120	ATC	RHCG	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000140519		0.547	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	-	0	39	0	T	NM_016321		90026363	-1	tier1	-	no_errors	ENST00000268122	ensembl	human	known	74_37	missense	76.19	25	80	SNP	1.000	C	C	90026363	T	C	90026363	3	2	65	1	0	0	0	0	1	0	0	0	13371	1464	51	4	1014	4	RHCG	15	90026363	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	5444461	90026363	12505029	167	17996											
TIGD7	91151	genome.wustl.edu	37	chr16	3350367	3350367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggtaccacatgtagaccGcatcatctacatcaccatat	12	11	6	12	1	3	1	2	0	1	1	3	1	3	1	3	1	2	4	3	1	4	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:3350367G>A	ENST00000396862.1	-	2	2076	c.248C>T	c.(247-249)gCg>gTg	p.A83V	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.A83V	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	83	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A83V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CATGTAGACCGCATCATCTAC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											159	152	154					16																	3350367		2197	4300	6497	SO:0001583	missense	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.248C>T	16.37:g.3350367G>A	ENSP00000380071:p.Ala83Val		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.A83V	ENST00000396862.1	37	c.248	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365975	0.41902	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.36157	1.27;1.27	4.38	4.38	0.52667	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.000000	0.35646	U	0.003075	T	0.46386	0.1390	L	0.43646	1.37	0.32140	N	0.585616	D	0.89917	1.0	D	0.85130	0.997	T	0.40478	-0.9561	10	0.10902	T	0.67	.	12.3228	0.54993	0.0:0.0:1.0:0.0	.	83	Q6NT04	TIGD7_HUMAN	V	83	ENSP00000380071:A83V;ENSP00000268674:A83V	ENSP00000268674:A83V	A	-	2	0	TIGD7	3290368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.166000	0.58203	2.283000	0.76528	0.655000	0.94253	GCG	TIGD7	-	pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000140993		0.502	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1		0	29	0	G	NM_033208		3350367	-1			no_errors	ENST00000268674	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	3350367	G	A	3350367	3	1	65	1	0	0	0	0	1	0	0	0	15948	1087	38	1	1405	1	TIGD7	16	3350367	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09		3350367	87004386	168	17997											
SEC14L5	9717	genome.wustl.edu	37	chr16	5009357	5009357	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtctcctgtccgagtCtacaagtacccgtttgagct	8	12	8	13	2	2	1	0	1	2	0	4	2	3	1	4	0	4	3	4	0	4	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:5009357C>A	ENST00000251170.7	+	2	213	c.33C>A	c.(31-33)gtC>gtA	p.V11V		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	11	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CTGTCCGAGTCTACAAGTACC	0.582																																																	0													124	124	124					16																	5009357		2099	4236	6335	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.33C>A	16.37:g.5009357C>A				Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.V11	ENST00000251170.7	37	c.33	CCDS45403.1	16																																																																																			SEC14L5	-	pfscan_PRELI/MSF1	ENSG00000103184		0.582	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	-	0	88	0	C			5009357	1	tier1	-	no_errors	ENST00000251170	ensembl	human	known	74_37	silent	64.29	25	45	SNP	0.988	A	A	5009357	C	A	5009357	2	1	65	1	0	0	0	0	0	0	0	1	14030	900	32	3		3	SEC14L5	16	5009357	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	1658990	5009357	85345396	169	17998											
SCNN1G	6340	genome.wustl.edu	37	chr16	23226040	23226040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaattttgcaggacagacTtggccaaactcttgatattc	11	13	9	8	0	1	2	0	1	1	1	2	4	1	4	1	3	2	1	1	3	3	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:23226040T>G	ENST00000300061.2	+	12	1644	c.1501T>G	c.(1501-1503)Ttg>Gtg	p.L501V	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	501					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAGGACAGACTTGGCCAAACT	0.512																																																	0													83	79	80					16																	23226040		2197	4300	6497	SO:0001583	missense	0			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1501T>G	16.37:g.23226040T>G	ENSP00000300061:p.Leu501Val		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L501V	ENST00000300061.2	37	c.1501	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	T	8.219	0.802027	0.16397	.	.	ENSG00000166828	ENST00000300061	T	0.63096	-0.02	5.66	1.61	0.23674	.	0.000000	0.64402	D	0.000019	T	0.52581	0.1743	L	0.27053	0.805	0.36168	D	0.848547	D	0.53885	0.963	P	0.53035	0.716	T	0.53236	-0.8467	10	0.12430	T	0.62	-11.9469	9.2709	0.37670	0.0:0.4629:0.0:0.5371	.	501	P51170	SCNNG_HUMAN	V	501	ENSP00000300061:L501V	ENSP00000300061:L501V	L	+	1	2	SCNN1G	23133541	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.381000	0.20619	0.283000	0.22279	0.454000	0.30748	TTG	SCNN1G	-	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	ENSG00000166828		0.512	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	-	0	31	0	T	NM_001039		23226040	1	tier1	-	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.999	G	G	23226040	T	G	23226040	3	3	65	1	0	0	0	0	1	0	0	0	13975	1606	56	4	1543	4	SCNN1G	16	23226040	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	18216683	23226040	67128713	170	17999											
MYST1	84148	genome.wustl.edu	37	chr16	31129012	31129012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccgcgatggcggcaCagggagctgctgcggcggtt	4	7	16	14	5	0	0	0	0	0	0	1	2	1	1	2	5	3	4	2	5	0	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:31129012C>G	ENST00000543774.2	+	2	345	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	KAT8_ENST00000448516.2_Missense_Mutation_p.Q4E|RP11-196G11.4_ENST00000576336.1_RNA|KAT8_ENST00000219797.4_Missense_Mutation_p.Q4E			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	4					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)										GATGGCGGCACAGGGAGCTGC	0.711																																																	0													3	5	4					16																	31129012		1490	2781	4271	SO:0001583	missense	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	17933	protein-coding gene	gene with protein product		609912	"MYST histone acetyltransferase 1"	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.10C>G	16.37:g.31129012C>G	ENSP00000456933:p.Gln4Glu		A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.Q4E	ENST00000543774.2	37	c.10	CCDS10706.1	16	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397957	0.25205	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.81	3.78	0.43462	.	0.599952	0.16744	N	0.201334	T	0.21227	0.0511	N	0.14661	0.345	0.21967	N	0.999441	B;B	0.10296	0.001;0.003	B;B	0.09377	0.0;0.004	T	0.15378	-1.0439	9	0.02654	T	1	-14.3256	10.9695	0.47431	0.0:0.7397:0.2603:0.0	.	4;4	Q9H7Z6;G5E9P2	KAT8_HUMAN;.	E	4	.	ENSP00000219797:Q4E	Q	+	1	0	KAT8	31036513	0.049000	0.20398	0.984000	0.44739	0.334000	0.28698	1.359000	0.34113	2.665000	0.90641	0.655000	0.94253	CAG	KAT8	-	NULL	ENSG00000103510		0.711	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KAT8	HGNC	protein_coding	OTTHUMT00000255546.3		0	22	0	C	NM_032188		31129012	1			no_errors	ENST00000448516	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.977	G	G	31129012	C	G	31129012	3	3	65	1	0	0	0	0	1	0	0	0	10140	479	17	5	12	5	MYST1	16	31129012	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	7902972	31129012	59225741	171	18000											
NUDT7	283927	genome.wustl.edu	37	chr16	77769784	77769784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcgtgaccctacagacatGgatgatgcagccacagctct	12	7	10	12	1	1	3	0	2	1	1	1	4	1	4	2	1	5	2	2	1	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr16:77769784G>T	ENST00000268533.5	+	3	318	c.249G>T	c.(247-249)atG>atT	p.M83I	NUDT7_ENST00000568787.1_Missense_Mutation_p.M83I|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000437314.3_Intron|NUDT7_ENST00000564085.1_Missense_Mutation_p.M83I	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	83	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTACAGACATGGATGATGCAG	0.527																																																	0													137	139	138					16																	77769784		1991	4171	6162	SO:0001583	missense	0			AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"Nudix motif containing"	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.249G>T	16.37:g.77769784G>T	ENSP00000268533:p.Met83Ile		B4DLE5|H3BUB8	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.M83I	ENST00000268533.5	37	c.249	CCDS42195.1	16	.	.	.	.	.	.	.	.	.	.	G	1.136	-0.650980	0.03506	.	.	ENSG00000140876	ENST00000268533	T	0.07688	3.17	5.63	0.841	0.18918	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	2.678240	0.01464	N	0.016005	T	0.02929	0.0087	N	0.00661	-1.28	0.52099	D	0.99994	B	0.02656	0.0	B	0.01281	0.0	T	0.36480	-0.9746	10	0.40728	T	0.16	3.2192	4.7397	0.13007	0.3611:0.1632:0.4757:0.0	.	83	P0C024	NUDT7_HUMAN	I	83	ENSP00000268533:M83I	ENSP00000268533:M83I	M	+	3	0	NUDT7	76327285	0.066000	0.20996	0.019000	0.16419	0.007000	0.05969	0.383000	0.20651	0.287000	0.22375	-0.224000	0.12420	ATG	NUDT7	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000140876		0.527	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT7	HGNC	protein_coding	OTTHUMT00000433873.1		0	46	0	G			77769784	1			no_errors	ENST00000268533	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.183	T	T	77769784	G	T	77769784	3	4	65	1	0	0	0	0	1	0	0	0	10783	1348	47	3	259	3	NUDT7	16	77769784	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	46640772	77769784	12584969	172	18001											
TP53	7157	genome.wustl.edu	37	chr17	7579377	7579378	+	Frame_Shift_Ins	INS	-	-	GT																															cggaaaccgtagctgccctgINSgtaggttttctgggaaggga																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:7579377_7579378insGT	ENST00000269305.4	-	4	498_499	c.309_310insAC	c.(307-312)taccagfs	p.Q104fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q104fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q104fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	104	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q104*(12)|p.Y103*(10)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103Y(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TAGCTGCCCTGGTAGGTTTTCT	0.634		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	45	Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Complex - deletion inframe(2)|Substitution - coding silent(1)|Complex - compound substitution(1)	lung(10)|large_intestine(4)|breast(4)|skin(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|biliary_tract(3)|central_nervous_system(2)|urinary_tract(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	GRCh37	CM073388	TP53	M																																				SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.308_309dupAC	17.37:g.7579378_7579379dupGT	ENSP00000269305:p.Gln104fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q103fs	ENST00000269305.4	37	c.310_309	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.634	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	260	0	-	NM_000546		7579378	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_ins	35.28	200	109	INS	0.934:0.998	GT	GT	7579378	-	GT	7579377	7	5	65	1	0	1	1	0	0	0	0	0	16429	1357	47	0	992	0	TP53	17	7579377	Frame_Shift_Ins	INS	-	TCGA-L5-A4OR-01A-11D-A27G-09		7579377	73615833	173	18002											
ALOX15B	247	genome.wustl.edu	37	chr17	7948301	7948301	+	Frame_Shift_Del	DEL	C	C	-																															gtgttgggtcctgggaccagCttgcaggctgagctagaggt																										TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:7948301delC	ENST00000380183.4	+	6	970	c.831delC	c.(829-831)agcfs	p.S277fs	ALOX15B_ENST00000380173.2_Frame_Shift_Del_p.S277fs|ALOX15B_ENST00000573359.1_Frame_Shift_Del_p.S277fs|ALOX15B_ENST00000572022.1_Frame_Shift_Del_p.S277fs	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	277	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTGGGACCAGCTTGCAGGCTG	0.602																																																	0													121	90	100					17																	7948301		2203	4300	6503	SO:0001589	frameshift_variant	0			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"Arachidonate lipoxygenases"	434	protein-coding gene	gene with protein product		603697	"arachidonate 15-lipoxygenase, second type"			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.831delC	17.37:g.7948301delC	ENSP00000369530:p.Ser277fs		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Frame_Shift_Del	DEL	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.L278fs	ENST00000380183.4	37	c.831	CCDS11128.1	17																																																																																			ALOX15B	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000179593		0.602	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2		0	71	0	C			7948301	1	tier1		no_errors	ENST00000380183	ensembl	human	known	74_37	frame_shift_del	32.38	71	34	DEL	0.169	-	-	7948301	C	-	7948301	7	5	65	1	0	1	0	1	0	0	0	0	539	796	28	0	853	0	ALOX15B	17	7948301	Frame_Shift_Del	DEL	C	TCGA-L5-A4OR-01A-11D-A27G-09	368924	7948301	73246909	174	18003											
DHRS7C	201140	genome.wustl.edu	37	chr17	9680523	9680523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttacaagtcgtacggaaCgggattccaaacttcccttg	12	10	8	11	3	0	0	0	0	0	0	3	2	2	2	2	2	5	1	2	2	6	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:9680523C>T	ENST00000330255.5	-	4	573	c.561G>A	c.(559-561)ccG>ccA	p.P187P	DHRS7C_ENST00000571134.1_Silent_p.P186P	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	187					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCGTACGGAACGGGATTCCAA	0.423																																																	0													118	111	113					17																	9680523		1909	4120	6029	SO:0001819	synonymous_variant	0				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	32423	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 32C, member 2"					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.561G>A	17.37:g.9680523C>T			B7ZW74|B9EJH3	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.P187	ENST00000330255.5	37	c.561	CCDS56020.1	17																																																																																			DHRS7C	-	pfam_DH_sc/Rdtase_SDR	ENSG00000184544		0.423	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	DHRS7C	HGNC	protein_coding	OTTHUMT00000439863.1	-	0	32	0	C	XM_113912		9680523	-1	tier1	-	no_errors	ENST00000330255	ensembl	human	known	74_37	silent	38.10	26	16	SNP	0.007	T	T	9680523	C	T	9680523	2	4	65	1	0	0	0	0	0	0	0	1	4511	523	19	1		1	DHRS7C	17	9680523	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	1732222	9680523	71514687	175	18004											
ZNF18	7566	genome.wustl.edu	37	chr17	11881337	11881337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggctcgagctccagctGaaacttttcccacagtgcga	10	9	9	13	2	1	1	1	1	0	0	4	3	3	1	2	1	4	3	2	1	2	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:11881337G>T	ENST00000322748.3	-	9	2191	c.1587C>A	c.(1585-1587)ttC>ttA	p.F529L	ZNF18_ENST00000454073.3_Missense_Mutation_p.F528L|ZNF18_ENST00000580306.2_Missense_Mutation_p.F529L|RP11-1096G20.5_ENST00000580270.1_RNA	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	529					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGCTCCAGCTGAAACTTTTCC	0.418																																																	0													113	113	113					17																	11881337		2203	4300	6503	SO:0001583	missense	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1587C>A	17.37:g.11881337G>T	ENSP00000315664:p.Phe529Leu		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.F529L	ENST00000322748.3	37	c.1587	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150559	0.57151	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.46063	0.88	5.89	5.89	0.94794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000019	T	0.62600	0.2441	M	0.87758	2.905	0.47862	D	0.999535	D;D	0.56968	0.972;0.978	P;P	0.51895	0.555;0.683	T	0.69654	-0.5087	10	0.87932	D	0	-15.8861	17.8139	0.88625	0.0:0.0:1.0:0.0	.	528;529	P17022-2;P17022	.;ZNF18_HUMAN	L	529	ENSP00000315664:F529L	ENSP00000315664:F529L	F	-	3	2	ZNF18	11822062	0.974000	0.33945	1.000000	0.80357	0.877000	0.50540	1.343000	0.33930	2.807000	0.96579	0.551000	0.68910	TTC	ZNF18	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000154957		0.418	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	-	0	57	0	G	XM_085596		11881337	-1	tier1	-	no_errors	ENST00000322748	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	11881337	G	T	11881337	3	4	65	1	0	0	0	0	1	0	0	0	17795	1281	45	3	66	3	ZNF18	17	11881337	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	2200814	11881337	69313873	176	18005											
TAC4	255061	genome.wustl.edu	37	chr17	47917252	47917252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccaggaggccctggaaCgtgtgttccagctgatatgc	7	10	13	11	1	0	1	0	1	0	0	1	3	1	3	3	3	4	2	3	3	2	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:47917252C>T	ENST00000334568.4	-	4	269	c.270G>A	c.(268-270)acG>acA	p.T90T	TAC4_ENST00000326219.5_Intron|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000398154.1_Silent_p.T73T|TAC4_ENST00000436235.1_Silent_p.T84T	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						GGCCCTGGAACGTGTGTTCCA	0.552																																																	0													57	56	56					17																	47917252		1932	4132	6064	SO:0001819	synonymous_variant	0			AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"Endogenous ligands"	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.270G>A	17.37:g.47917252C>T				Silent	SNP	NULL	p.T90	ENST00000334568.4	37	c.270	CCDS42357.1	17																																																																																			TAC4	-	NULL	ENSG00000176358		0.552	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAC4	HGNC	protein_coding	OTTHUMT00000366198.1	-	0	52	0	C	NM_170685		47917252	-1	tier1	-	no_errors	ENST00000334568	ensembl	human	known	74_37	silent	22.06	53	15	SNP	0.000	T	T	47917252	C	T	47917252	2	4	65	1	0	0	0	0	0	0	0	1	15547	523	19	1		1	TAC4	17	47917252	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	36035915	47917252	33277958	177	18006											
RHBDF2	79651	genome.wustl.edu	37	chr17	74468104	74468104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgaagaggcaggcgaGgaggccgaactgtgagccgg	10	3	17	11	4	0	2	0	1	0	1	1	6	1	3	3	5	2	1	3	5	2	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr17:74468104G>A	ENST00000313080.4	-	19	2455	c.2182C>T	c.(2182-2184)Ctc>Ttc	p.L728F	RHBDF2_ENST00000389760.4_Missense_Mutation_p.L699F|RHBDF2_ENST00000591885.1_Missense_Mutation_p.L699F	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	728					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						AGGCAGGCGAGGAGGCCGAAC	0.692																																																	0													17	17	17					17																	74468104		2179	4286	6465	SO:0001583	missense	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2182C>T	17.37:g.74468104G>A	ENSP00000322775:p.Leu728Phe		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.L728F	ENST00000313080.4	37	c.2182	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866465	0.72065	.	.	ENSG00000129667	ENST00000313080;ENST00000389760	T;T	0.18338	2.22;2.22	4.52	4.52	0.55395	Peptidase S54, rhomboid domain (1);	0.000000	0.64402	D	0.000001	T	0.26376	0.0644	L	0.35288	1.05	0.58432	D	0.999999	D;D	0.54601	0.967;0.959	P;P	0.61132	0.884;0.816	T	0.01111	-1.1448	10	0.87932	D	0	-40.8849	11.9619	0.53013	0.0839:0.0:0.9161:0.0	.	728;699	Q6PJF5;Q6PJF5-2	RHDF2_HUMAN;.	F	728;699	ENSP00000322775:L728F;ENSP00000374410:L699F	ENSP00000322775:L728F	L	-	1	0	RHBDF2	71979699	1.000000	0.71417	0.979000	0.43373	0.873000	0.50193	5.480000	0.66820	2.376000	0.81061	0.467000	0.42956	CTC	RHBDF2	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000129667		0.692	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	-	0	29	0	G	NM_024599		74468104	-1	tier1	-	no_errors	ENST00000313080	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	A	A	74468104	G	A	74468104	3	1	65	1	0	0	0	0	1	0	0	0	13365	1000	35	3	392	3	RHBDF2	17	74468104	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	26550852	74468104	6727106	178	18007											
CLUL1	27098	genome.wustl.edu	37	chr18	627265	627265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattctctctttaacaggAgttttaacgtcttcagacag	11	15	7	8	1	4	2	1	1	3	1	5	3	4	3	0	1	2	1	0	1	3	6			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr18:627265A>T	ENST00000400606.2	+	5	737	c.592A>T	c.(592-594)Agt>Tgt	p.S198C	CLUL1_ENST00000540035.1_Missense_Mutation_p.S250C|CLUL1_ENST00000338387.7_Missense_Mutation_p.S198C|CLUL1_ENST00000579494.1_Missense_Mutation_p.S198C|CLUL1_ENST00000581619.1_Missense_Mutation_p.S223C	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	198					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CTTTAACAGGAGTTTTAACGT	0.418																																																	0													214	197	203					18																	627265		1908	4136	6044	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.592A>T	18.37:g.627265A>T	ENSP00000383449:p.Ser198Cys		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.S198C	ENST00000400606.2	37	c.592	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	A	13.47	2.248057	0.39697	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.32515	1.45;1.45;1.45	5.6	5.6	0.85130	Clusterin, N-terminal (1);	0.081370	0.85682	D	0.000000	T	0.52468	0.1736	M	0.70275	2.135	0.35289	D	0.782023	D;D	0.89917	1.0;1.0	D;D	0.85130	0.991;0.997	T	0.66697	-0.5858	10	0.87932	D	0	-7.5046	10.1667	0.42884	0.9256:0.0:0.0744:0.0	.	250;198	F5GWQ8;Q15846	.;CLUL1_HUMAN	C	198;250;198	ENSP00000383449:S198C;ENSP00000441726:S250C;ENSP00000341128:S198C	ENSP00000341128:S198C	S	+	1	0	CLUL1	617265	1.000000	0.71417	0.305000	0.25099	0.281000	0.26958	4.909000	0.63314	2.139000	0.66308	0.459000	0.35465	AGT	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_N	ENSG00000079101		0.418	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	-	0	67	0	A			627265	1	tier1	-	no_errors	ENST00000338387	ensembl	human	known	74_37	missense	11.34	218	28	SNP	0.646	T	T	627265	A	T	627265	3	4	65	1	0	0	0	0	1	0	0	0	3577	304	11	5	606	5	CLUL1	18	627265	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09		627265	77449983	179	18008											
CLUL1	27098	genome.wustl.edu	37	chr18	641516	641516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaaccaggccccagaaaCagagatcatctttaattcaa	16	7	7	11	0	3	2	2	0	1	2	3	3	3	2	3	2	2	1	3	2	4	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr18:641516C>G	ENST00000400606.2	+	7	1329	c.1184C>G	c.(1183-1185)aCa>aGa	p.T395R	CLUL1_ENST00000540035.1_Missense_Mutation_p.T447R|CLUL1_ENST00000338387.7_Missense_Mutation_p.T395R|C18orf56_ENST00000585033.1_Intron|CLUL1_ENST00000579494.1_Missense_Mutation_p.T395R|CLUL1_ENST00000581619.1_Missense_Mutation_p.T420R	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	395					cell death (GO:0008219)	extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GCCCCAGAAACAGAGATCATC	0.463																																																	0													79	79	79					18																	641516		1900	4104	6004	SO:0001583	missense	0			D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.1184C>G	18.37:g.641516C>G	ENSP00000383449:p.Thr395Arg		A0FDN7	Missense_Mutation	SNP	pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C	p.T395R	ENST00000400606.2	37	c.1184	CCDS42405.1	18	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574920	0.28092	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.22336	1.96;1.96;1.96	5.45	3.65	0.41850	Clusterin, C-terminal (1);	0.335796	0.32952	N	0.005451	T	0.24353	0.0590	L	0.44542	1.39	0.20196	N	0.999925	D;P	0.53151	0.958;0.863	P;P	0.49637	0.483;0.617	T	0.05178	-1.0901	10	0.59425	D	0.04	0.0431	9.4824	0.38908	0.0:0.7811:0.1431:0.0758	.	447;395	F5GWQ8;Q15846	.;CLUL1_HUMAN	R	395;447;395	ENSP00000383449:T395R;ENSP00000441726:T447R;ENSP00000341128:T395R	ENSP00000341128:T395R	T	+	2	0	CLUL1	631516	0.288000	0.24324	0.001000	0.08648	0.025000	0.11179	2.582000	0.46085	0.656000	0.30886	0.563000	0.77884	ACA	CLUL1	-	pfam_Clusterin-like,smart_Clusterin_C	ENSG00000079101		0.463	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLUL1	HGNC	protein_coding	OTTHUMT00000441183.1	-	0	34	0	C			641516	1	tier1	-	no_errors	ENST00000338387	ensembl	human	known	74_37	missense	11.00	89	11	SNP	0.010	G	G	641516	C	G	641516	3	3	65	1	0	0	0	0	1	0	0	0	3577	478	17	5	1206	5	CLUL1	18	641516	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	14251	641516	77435732	180	18009											
SMAD4	4089	genome.wustl.edu	37	chr18	48593406	48593406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggttgcacataggcaaagGtgtgcagttggaatgtaaag	14	9	14	4	0	0	0	0	0	0	0	0	1	0	1	0	4	2	6	0	4	6	4	rs121912580		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr18:48593406G>T	ENST00000342988.3	+	10	1695	c.1157G>T	c.(1156-1158)gGt>gTt	p.G386V	SMAD4_ENST00000398417.2_Missense_Mutation_p.G386V|SMAD4_ENST00000588745.1_Missense_Mutation_p.G290V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	386	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> D (in JP/HHT; dbSNP:rs28936393). {ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATAGGCAAAGGTGTGCAGTTG	0.368																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CM021284	SMAD4	M	rs121912580						202	166	178					18																	48593406		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1157G>T	18.37:g.48593406G>T	ENSP00000341551:p.Gly386Val		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.G386V	ENST00000342988.3	37	c.1157	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723725	0.89298	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.99873	-7.38;-7.38	5.65	5.65	0.86999	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.046058	0.85682	D	0.000000	D	0.99910	0.9957	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96369	0.9272	10	0.87932	D	0	.	18.5072	0.90901	0.0:0.0:1.0:0.0	.	386	Q13485	SMAD4_HUMAN	V	386	ENSP00000341551:G386V;ENSP00000381452:G386V	ENSP00000341551:G386V	G	+	2	0	SMAD4	46847404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.759000	0.98931	2.662000	0.90505	0.563000	0.77884	GGT	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type	ENSG00000141646		0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	-	0	28	0	G	NM_005359		48593406	1	tier1	-	no_errors	ENST00000342988	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	T	T	48593406	G	T	48593406	3	4	65	1	0	0	0	0	1	0	0	0	14805	1261	44	3	1191	3	SMAD4	18	48593406	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	47951890	48593406	29483842	181	18010											
MKNK2	2872	genome.wustl.edu	37	chr19	2041133	2041133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaggtctttggcagcgCaggagatgtgggcccagtcc	8	8	16	9	1	1	3	0	1	1	2	2	4	2	3	2	4	1	2	2	4	0	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:2041133C>G	ENST00000591601.1	-	11	1051	c.1016G>C	c.(1015-1017)tGc>tCc	p.C339S	MKNK2_ENST00000309340.7_Missense_Mutation_p.C339S|MKNK2_ENST00000591588.1_Missense_Mutation_p.C83S|MKNK2_ENST00000591142.1_Missense_Mutation_p.C83S|MKNK2_ENST00000541165.1_Missense_Mutation_p.C208S|MKNK2_ENST00000250896.3_Missense_Mutation_p.C339S|MKNK2_ENST00000588014.1_Missense_Mutation_p.C83S			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGGCAGCGCAGGAGATGTG	0.597																																																	0													192	146	161					19																	2041133		2203	4300	6503	SO:0001583	missense	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1016G>C	19.37:g.2041133C>G	ENSP00000467811:p.Cys339Ser		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C339S	ENST00000591601.1	37	c.1016	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037428	0.00406	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	T;T;T	0.62498	0.02;0.02;0.02	3.94	2.91	0.33838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.530450	0.20591	N	0.089352	T	0.25754	0.0627	N	0.01289	-0.905	0.25808	N	0.984437	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.18650	-1.0330	10	0.13108	T	0.6	-8.2908	4.9164	0.13847	0.6977:0.2028:0.0995:0.0	.	144;339;339;241	Q59GN5;Q9HBH9;Q9HBH9-2;Q9NT28	.;MKNK2_HUMAN;.;.	S	339;339;208;279	ENSP00000309485:C339S;ENSP00000250896:C339S;ENSP00000438904:C208S	ENSP00000250896:C339S	C	-	2	0	MKNK2	1992133	0.253000	0.23982	0.508000	0.27688	0.029000	0.11900	1.929000	0.40114	0.594000	0.29761	-0.410000	0.06199	TGC	MKNK2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000099875		0.597	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	-	0	44	0	C	NM_199054		2041133	-1	tier1	-	no_errors	ENST00000250896	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.884	G	G	2041133	C	G	2041133	3	3	65	1	0	0	0	0	1	0	0	0	9643	710	25	5	488	5	MKNK2	19	2041133	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09		2041133	57087850	182	18011											
TMEM146	257062	genome.wustl.edu	37	chr19	5733871	5733871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatgataacttttaggtcgGcgtaccagaagtgacatcag	13	11	10	7	2	1	3	1	2	0	1	2	3	1	3	1	2	2	1	1	2	5	5			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:5733871G>A	ENST00000381624.3	+	5	342	c.281G>A	c.(280-282)gGc>gAc	p.G94D	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	94					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TTTTAGGTCGGCGTACCAGAA	0.333																																																	0													132	129	130					19																	5733871		1880	4117	5997	SO:0001583	missense	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.281G>A	19.37:g.5733871G>A	ENSP00000371037:p.Gly94Asp		Q6ZRP1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.G94D	ENST00000381624.3	37	c.281	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	g	14.47	2.544096	0.45280	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.58940	0.3	4.37	1.96	0.26148	.	1.360710	0.05872	U	0.624723	T	0.70386	0.3218	M	0.62723	1.935	0.19300	N	0.999972	D	0.63880	0.993	P	0.60286	0.872	T	0.56408	-0.7984	10	0.48119	T	0.1	.	10.9803	0.47490	0.0:0.3612:0.6388:0.0	.	94	Q86XM0	TM146_HUMAN	D	20;94	ENSP00000371037:G94D	ENSP00000371037:G94D	G	+	2	0	TMEM146	5684871	0.153000	0.22777	0.006000	0.13384	0.017000	0.09413	2.060000	0.41394	0.918000	0.36919	0.651000	0.88453	GGC	CATSPERD	-	NULL	ENSG00000174898		0.333	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0	36	0	G	NM_152784		5733871	1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	missense	45.71	19	16	SNP	0.005	A	A	5733871	G	A	5733871	3	1	65	1	0	0	0	0	1	0	0	0	16107	1203	42	3	299	3	TMEM146	19	5733871	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	3692738	5733871	53395112	183	18012											
MUC16	94025	genome.wustl.edu	37	chr19	9048223	9048223	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttagaacagctgagctggcTtctaccccatgactggtggc	8	10	12	11	0	1	3	0	2	1	1	1	3	1	3	2	3	4	4	2	3	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:9048223T>C	ENST00000397910.4	-	5	33611	c.33408A>G	c.(33406-33408)gaA>gaG	p.E11136E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11138	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGCTGGCTTCTACCCCAT	0.478																																																	0													93	84	87					19																	9048223		1909	4133	6042	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33408A>G	19.37:g.9048223T>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.E11136	ENST00000397910.4	37	c.33408	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	94	0	T	NM_024690		9048223	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	41.57	52	37	SNP	0.000	C	C	9048223	T	C	9048223	2	2	65	1	0	0	0	0	0	0	0	1	10011	1606	56	4		4	MUC16	19	9048223	Silent	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	3314352	9048223	50080760	184	18013											
ZNF559	84527	genome.wustl.edu	37	chr19	9449867	9449867	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatgtgtgtgatggtttAggactcagtgacctttgagg	8	13	14	6	0	1	3	1	3	0	0	1	4	1	4	1	3	1	2	1	3	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:9449867A>C	ENST00000393883.2	+	4	681		c.e4-1		ZNF559_ENST00000586255.1_Splice_Site|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Splice_Site|ZNF559_ENST00000592504.1_Splice_Site|ZNF559_ENST00000585352.1_Splice_Site|ZNF559_ENST00000317221.7_Splice_Site|ZNF559_ENST00000587557.1_Splice_Site|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000603380.1_Splice_Site	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GTGATGGTTTAGGACTCAGTG	0.488																																																	0													226	189	201					19																	9449867		2203	4300	6503	SO:0001630	splice_region_variant	0			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.34-1A>C	19.37:g.9449867A>C			K7EMG6	Splice_Site	SNP	-	e2-2	ENST00000393883.2	37	c.34-2	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637888	0.29157	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	.	.	.	2.42	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7135	0.34397	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF559	9310867	0.993000	0.37304	0.919000	0.36401	0.538000	0.34931	1.316000	0.33620	1.363000	0.46019	0.260000	0.18958	.	ZNF559	-	-	ENSG00000188321		0.488	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	-	0	107	0	A	NM_032497	Intron	9449867	1	tier1	-	no_errors	ENST00000393883	ensembl	human	known	74_37	splice_site	15.52	98	18	SNP	0.988	C	C	9449867	A	C	9449867	5	2	65	1	0	0	0	0	0	0	1	0	18038	434	15	4	38	4	ZNF559	19	9449867	Splice_Site	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	401644	9449867	49679116	185	18014											
COL5A3	50509	genome.wustl.edu	37	chr19	10091481	10091481	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gattgcccacccatcccataCcttggggcctggttgccctg	5	10	10	16	0	0	0	0	0	0	0	1	1	1	0	6	3	3	1	6	3	1	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:10091481C>G	ENST00000264828.3	-	34	2645		c.e34+1			NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3						axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATCCCATACCTTGGGGCCT	0.577																																																	0													31	32	32					19																	10091481		2203	4300	6503	SO:0001630	splice_region_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2559+1G>C	19.37:g.10091481C>G			Q9NZQ6	Splice_Site	SNP	-	e34+1	ENST00000264828.3	37	c.2559+1	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876300	0.72180	.	.	ENSG00000080573	ENST00000264828	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4398	0.67309	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A3	9952481	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.483000	0.73617	1.993000	0.58246	0.305000	0.20034	.	COL5A3	-	-	ENSG00000080573		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	-	0	26	0	C	NM_015719	Intron	10091481	-1	tier1	-	no_errors	ENST00000264828	ensembl	human	known	74_37	splice_site	44.74	21	17	SNP	1.000	G	G	10091481	C	G	10091481	5	3	65	1	0	0	0	0	0	0	1	0	3705	521	18	5	2813	5	COL5A3	19	10091481	Splice_Site	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	641614	10091481	49037502	186	18015											
EPS15L1	58513	genome.wustl.edu	37	chr19	16536019	16536019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaggcaggacggggaCggcgccagggaacacagtct	9	3	18	11	3	1	0	0	0	1	0	1	3	1	3	1	7	1	3	1	7	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:16536019C>T	ENST00000248070.6	-	9	806	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	EPS15L1_ENST00000602009.1_Missense_Mutation_p.V69I|EPS15L1_ENST00000535753.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000455140.2_Missense_Mutation_p.V223I|EPS15L1_ENST00000594975.1_Missense_Mutation_p.V223I|EPS15L1_ENST00000597937.1_Missense_Mutation_p.V223I	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	223	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGGACGGGGACGGCGCCAGGG	0.682																																																	0													41	41	41					19																	16536019		2203	4299	6502	SO:0001583	missense	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.667G>A	19.37:g.16536019C>T	ENSP00000248070:p.Val223Ile		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V223I	ENST00000248070.6	37	c.667	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333836	0.60853	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.32515	1.84;1.82;1.45	4.77	4.77	0.60923	.	0.065898	0.64402	D	0.000014	T	0.23451	0.0567	L	0.27053	0.805	0.53688	D	0.99997	P;B;D;D;P;P	0.53151	0.597;0.448;0.958;0.958;0.785;0.808	B;B;B;B;B;B	0.41271	0.079;0.1;0.352;0.352;0.121;0.338	T	0.02491	-1.1151	10	0.27082	T	0.32	.	16.9635	0.86279	0.0:1.0:0.0:0.0	.	223;223;222;223;223;223	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	I	223	ENSP00000393313:V223I;ENSP00000248070:V223I;ENSP00000440103:V223I	ENSP00000248070:V223I	V	-	1	0	EPS15L1	16397019	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	5.699000	0.68310	2.488000	0.83962	0.561000	0.74099	GTC	EPS15L1	-	NULL	ENSG00000127527		0.682	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	-	0	25	0	C	NM_021235		16536019	-1	tier1	-	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	31.91	32	15	SNP	1.000	T	T	16536019	C	T	16536019	3	4	65	1	0	0	0	0	1	0	0	0	5209	536	19	1	1987	1	EPS15L1	19	16536019	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	6444538	16536019	42592964	187	18016											
ABHD8	79575	genome.wustl.edu	37	chr19	17405573	17405573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagctgggctccagcgcCgtagggcccccgccattgat	7	6	13	15	3	0	2	0	1	0	1	1	2	1	2	5	2	2	3	5	2	2	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:17405573C>T	ENST00000247706.3	-	3	1082	c.843G>A	c.(841-843)acG>acA	p.T281T	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	281							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GCTCCAGCGCCGTAGGGCCCC	0.602																																					Ovarian(156;1368 2543 15275 41187)												0													75	60	65					19																	17405573		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.843G>A	19.37:g.17405573C>T			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.T281	ENST00000247706.3	37	c.843	CCDS12355.1	19																																																																																			ABHD8	-	pfam_AB_hydrolase_1	ENSG00000127220		0.602	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	-	0	20	0	C	NM_024527		17405573	-1	tier1	-	no_errors	ENST00000247706	ensembl	human	known	74_37	silent	21.43	22	6	SNP	0.620	T	T	17405573	C	T	17405573	2	4	65	1	0	0	0	0	0	0	0	1	87	639	23	1		1	ABHD8	19	17405573	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	869554	17405573	41723410	188	18017											
MLL4	9757	genome.wustl.edu	37	chr19	36213516	36213516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcaaacatgtctgccGtcatgctgctgtggccctgg	6	10	11	14	2	3	0	2	0	1	0	3	0	3	0	3	2	4	3	3	2	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:36213516G>A	ENST00000222270.7	+	5	2618	c.2618G>A	c.(2617-2619)cGt>cAt	p.R873H	KMT2B_ENST00000420124.1_Missense_Mutation_p.R873H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	873					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CATGTCTGCCGTCATGCTGCT	0.667																																																	0													32	34	34					19																	36213516		2021	4176	6197	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2618G>A	19.37:g.36213516G>A	ENSP00000222270:p.Arg873His		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R873H	ENST00000222270.7	37	c.2618	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373165	0.61624	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.96554	-4.05;-4.05	5.39	5.39	0.77823	.	0.000000	0.41294	D	0.000919	D	0.97495	0.9180	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98021	1.0371	10	0.87932	D	0	.	18.0965	0.89492	0.0:0.0:1.0:0.0	.	873	Q9UMN6	MLL4_HUMAN	H	873	ENSP00000222270:R873H;ENSP00000398837:R873H	ENSP00000222270:R873H	R	+	2	0	AD000671.1	40905356	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.799000	0.91895	2.804000	0.96469	0.655000	0.94253	CGT	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.667	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	12	0	G	NM_014727		36213516	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	32.35	23	11	SNP	1.000	A	A	36213516	G	A	36213516	3	1	65	1	0	0	0	0	1	0	0	0	9661	1145	40	1	2636	1	MLL4	19	36213516	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	18807943	36213516	22915467	189	18018											
ZNF567	163081	genome.wustl.edu	37	chr19	37211536	37211536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcattgtccatcaaaGaactcacaagggagaaaaca	19	6	6	10	0	3	2	3	0	0	2	4	3	4	2	2	1	3	0	2	1	6	1	rs146394117		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:37211536G>T	ENST00000536254.2	+	6	2132	c.1910G>T	c.(1909-1911)aGa>aTa	p.R637I	ZNF567_ENST00000588311.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.R606I|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.R606I			Q8N184	ZN567_HUMAN	zinc finger protein 567	637					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R606I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTCCATCAAAGAACTCACAAG	0.328																																																	1	Substitution - Missense(1)	large_intestine(1)						G	ILE/ARG	0,4406		0,0,2203	51	54	53		1817	3.2	1	19	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF567	NM_152603.2	97	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	606/617	37211536	1,13005	2203	4300	6503	SO:0001583	missense	0			AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"Zinc fingers, C2H2-type", "-"	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1910G>T	19.37:g.37211536G>T	ENSP00000441838:p.Arg637Ile		B3KX49|Q6N044	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R637I	ENST00000536254.2	37	c.1910		19	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880625	0.33255	0.0	1.16E-4	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498	T;T	0.32753	2.83;1.44	5.34	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.284007	0.25601	N	0.029541	T	0.28134	0.0694	M	0.71296	2.17	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.33394	-0.9870	10	0.72032	D	0.01	.	3.6807	0.08309	0.0879:0.1686:0.5682:0.1752	.	637	Q8N184	ZN567_HUMAN	I	637;581;606;636	ENSP00000441838:R637I;ENSP00000353957:R606I	ENSP00000353957:R606I	R	+	2	0	ZNF567	41903376	0.004000	0.15560	1.000000	0.80357	0.998000	0.95712	0.263000	0.18478	1.578000	0.49821	0.650000	0.86243	AGA	ZNF567	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189042		0.328	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	ZNF567	HGNC	protein_coding	OTTHUMT00000453549.1	-	0	45	0	G	NM_152603		37211536	1	tier1	rs146394117	no_errors	ENST00000536254	ensembl	human	known	74_37	missense	37.10	39	23	SNP	1.000	T	T	37211536	G	T	37211536	3	4	65	1	0	0	0	0	1	0	0	0	18046	942	33	3	1827	3	ZNF567	19	37211536	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	998020	37211536	21917447	190	18019											
ZNF570	148268	genome.wustl.edu	37	chr19	37976049	37976049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaaaaaaaccttcaggCagcatgcacaccttgctcat	15	8	6	12	0	2	0	2	0	0	0	2	0	2	0	2	1	5	5	2	1	4	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:37976049C>A	ENST00000330173.1	+	5	2054	c.1525C>A	c.(1525-1527)Cag>Aag	p.Q509K	ZNF570_ENST00000586475.1_Missense_Mutation_p.Q565K|ZNF570_ENST00000388801.3_Missense_Mutation_p.Q306K|CTD-2086O20.3_ENST00000591976.1_lincRNA	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCTTCAGGCAGCATGCACA	0.458																																																	0													116	116	116					19																	37976049		2203	4300	6503	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1525C>A	19.37:g.37976049C>A	ENSP00000331540:p.Gln509Lys		A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q509K	ENST00000330173.1	37	c.1525	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829508	0.50845	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.07021	3.23;3.23	4.55	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.198288	0.25058	N	0.033475	T	0.09862	0.0242	L	0.41415	1.275	0.19575	N	0.999962	B;P	0.52061	0.004;0.95	B;P	0.45913	0.006;0.497	T	0.12915	-1.0529	10	0.49607	T	0.09	.	11.7758	0.51985	0.1762:0.8238:0.0:0.0	.	306;509	B4DMP1;Q96NI8	.;ZN570_HUMAN	K	509;306	ENSP00000331540:Q509K;ENSP00000373453:Q306K	ENSP00000331540:Q509K	Q	+	1	0	ZNF570	42667889	0.000000	0.05858	0.977000	0.42913	0.996000	0.88848	0.170000	0.16663	2.503000	0.84419	0.563000	0.77884	CAG	ZNF570	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.458	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0	35	0	C	NM_144694		37976049	1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.667	A	A	37976049	C	A	37976049	3	1	65	1	0	0	0	0	1	0	0	0	18050	711	25	3	1539	3	ZNF570	19	37976049	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	764513	37976049	21152934	191	18020											
PSG11	5680	genome.wustl.edu	37	chr19	43523013	43523013	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtatactttgtgacAccaaatagaaagagggtcct	13	10	9	9	0	0	3	0	1	0	2	1	3	1	3	3	1	2	2	3	1	5	4			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:43523013A>G	ENST00000401740.1	-	3	721	c.618T>C	c.(616-618)ggT>ggC	p.G206G	PSG11_ENST00000403486.1_Silent_p.G84G|PSG11_ENST00000320078.7_Silent_p.G206G|PSG11_ENST00000306322.7_Silent_p.G84G|PSG11_ENST00000595312.1_5'UTR			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	206	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACTTTGTGACACCAAATAGAA	0.512																																																	0													241	252	248					19																	43523013		2200	4298	6498	SO:0001819	synonymous_variant	0			U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9516	protein-coding gene	gene with protein product	"pregnancy specific beta-1-glycoprotein 13"	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.618T>C	19.37:g.43523013A>G			B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G206	ENST00000401740.1	37	c.618	CCDS12614.2	19																																																																																			PSG11	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000243130		0.512	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG11	HGNC	protein_coding	OTTHUMT00000323079.1	-	0	190	0	A	NM_002785		43523013	-1	tier1	-	no_errors	ENST00000320078	ensembl	human	known	74_37	silent	43.80	154	120	SNP	0.000	G	G	43523013	A	G	43523013	2	3	65	1	0	0	0	0	0	0	0	1	12696	146	6	4		4	PSG11	19	43523013	Silent	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	5546964	43523013	15605970	192	18021											
BCAM	4059	genome.wustl.edu	37	chr19	45314532	45314532	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgctggtggaggtgatgCgaggaaagtctgtcattctg	7	10	15	9	2	3	1	1	1	2	0	3	4	3	3	2	4	1	1	2	4	1	1	rs199665533		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:45314532C>T	ENST00000270233.6	+	2	155	c.133C>T	c.(133-135)Cga>Tga	p.R45*	BCAM_ENST00000589651.1_Nonsense_Mutation_p.R45*	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	45	Ig-like V-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGAGGTGATGCGAGGAAAGTC	0.587																																																	0													199	175	183					19																	45314532		2203	4300	6503	SO:0001587	stop_gained	0			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.133C>T	19.37:g.45314532C>T	ENSP00000270233:p.Arg45*		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Nonsense_Mutation	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R45*	ENST00000270233.6	37	c.133	CCDS12644.1	19	.	.	.	.	.	.	.	.	.	.	.	19.68	3.873385	0.72180	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	.	.	.	3.64	-0.381	0.12485	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-6.8614	9.6932	0.40141	0.4166:0.5834:0.0:0.0	.	.	.	.	X	45	.	ENSP00000270233:R45X	R	+	1	2	BCAM	50006372	0.048000	0.20356	0.513000	0.27749	0.146000	0.21551	-0.092000	0.11129	0.207000	0.20607	0.305000	0.20034	CGA	BCAM	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000187244		0.587	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	-	0	79	0	C	NM_005581		45314532	1	tier1	rs199665533	no_errors	ENST00000270233	ensembl	human	known	74_37	nonsense	28.16	74	29	SNP	0.236	T	T	45314532	C	T	45314532	4	4	65	1	0	0	0	0	0	1	0	0	1345	760	27	1	139	1	BCAM	19	45314532	Nonsense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	1791519	45314532	13814451	193	18022											
CCDC61	729440	genome.wustl.edu	37	chr19	46498690	46498690	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaccaatcagaagcgagAacgccggatcctggggcggg	10	5	16	10	4	1	3	1	1	0	2	2	5	2	4	3	4	2	0	3	4	3	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:46498690A>G	ENST00000595358.1	+	0	0				CCDC61_ENST00000263284.2_Missense_Mutation_p.N30D|CCDC61_ENST00000536603.1_5'Flank	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61							centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CAGAAGCGAGAACGCCGGATC	0.622																																																	0													24	26	25					19																	46498690		1864	4112	5976	SO:0001631	upstream_gene_variant	0				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488		19.37:g.46498690A>G	Exception_encountered		C8CAP4|Q9HDB6	Missense_Mutation	SNP	NULL	p.N30D	ENST00000595358.1	37	c.88	CCDS46120.2	19	.	.	.	.	.	.	.	.	.	.	A	10.92	1.488456	0.26686	.	.	ENSG00000104983	ENST00000263284	.	.	.	4.18	2.1	0.27182	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	T	0.38222	-0.9671	5	0.30854	T	0.27	.	5.7312	0.18040	0.7837:0.0:0.2163:0.0	.	.	.	.	D	30	.	ENSP00000263284:N30D	N	+	1	0	CCDC61	51190530	0.302000	0.24454	0.815000	0.32552	0.092000	0.18411	0.940000	0.28992	0.413000	0.25759	0.456000	0.33151	AAC	CCDC61	-	NULL	ENSG00000104983		0.622	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	-	0	48	0	A	NM_001080402		46498690	1	tier1	-	no_errors	ENST00000263284	ensembl	human	known	74_37	missense	51.22	40	42	SNP	0.744	G	G	46498690	A	G	46498690	1	3	65	0	1	0	0	0	0	0	0	0	2839	246	9	4		4	CCDC61	19	46498690	5'Flank	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	1184158	46498690	12630293	194	18023											
PPFIA3	8541	genome.wustl.edu	37	chr19	49652560	49652560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcaaccttatctccttagGcacagacaggcggctggacg	10	7	11	13	2	1	1	0	0	1	1	2	2	1	2	2	4	2	3	2	4	3	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:49652560G>T	ENST00000334186.4	+	27	3681	c.3332G>T	c.(3331-3333)gGc>gTc	p.G1111V	PPFIA3_ENST00000602351.1_Missense_Mutation_p.G1102V	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1111					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ATCTCCTTAGGCACAGACAGG	0.657																																																	0													36	41	40					19																	49652560		2203	4299	6502	SO:0001583	missense	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3332G>T	19.37:g.49652560G>T	ENSP00000335614:p.Gly1111Val		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.G1111V	ENST00000334186.4	37	c.3332	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908474	0.72868	.	.	ENSG00000177380	ENST00000334186	T	0.21734	1.99	4.16	4.16	0.48862	Sterile alpha motif/pointed domain (1);	0.000000	0.48286	D	0.000183	T	0.44519	0.1297	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.67103	0.949;0.937	T	0.49011	-0.8983	10	0.87932	D	0	-18.1197	15.7409	0.77894	0.0:0.0:1.0:0.0	.	1102;1111	O75145-2;O75145	.;LIPA3_HUMAN	V	1111	ENSP00000335614:G1111V	ENSP00000335614:G1111V	G	+	2	0	PPFIA3	54344372	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.008000	0.63991	2.321000	0.78463	0.462000	0.41574	GGC	PPFIA3	-	superfamily_SAM/pointed	ENSG00000177380		0.657	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1		0	36	0	G	NM_003660		49652560	1			no_errors	ENST00000334186	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	49652560	G	T	49652560	3	4	65	1	0	0	0	0	1	0	0	0	12350	1203	42	3	3434	3	PPFIA3	19	49652560	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	3153870	49652560	9476423	195	18024											
MYH14	79784	genome.wustl.edu	37	chr19	50762495	50762495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgccagggcttccccaaccGcatcctcttccaggagttcc	6	9	8	18	2	1	0	0	0	1	0	6	1	5	1	7	2	1	3	7	2	1	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:50762495G>A	ENST00000596571.1	+	16	2204	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	MYH14_ENST00000376970.2_Missense_Mutation_p.R768H|MYH14_ENST00000440075.2_Missense_Mutation_p.R776H|MYH14_ENST00000262269.8_Missense_Mutation_p.R776H|MYH14_ENST00000601313.1_Missense_Mutation_p.R776H|MYH14_ENST00000425460.1_Missense_Mutation_p.R743H|MYH14_ENST00000598205.1_Missense_Mutation_p.R743H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	735	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCCCCAACCGCATCCTCTTC	0.706																																																	0													14	17	16					19																	50762495		2181	4286	6467	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2204G>A	19.37:g.50762495G>A	ENSP00000472819:p.Arg735His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R776H	ENST00000596571.1	37	c.2327	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747909	0.89663	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.39	3.39	0.38822	Myosin head, motor domain (2);	.	.	.	.	D	0.96914	0.8992	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97532	1.0080	9	0.87932	D	0	.	12.6659	0.56842	0.0:0.0:1.0:0.0	.	776;735;743	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	735;776;768;743;735;776	ENSP00000406273:R776H;ENSP00000366169:R768H;ENSP00000407879:R743H;ENSP00000262269:R776H	ENSP00000262269:R776H	R	+	2	0	MYH14	55454307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.497000	0.97970	1.917000	0.55516	0.484000	0.47621	CGC	MYH14	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000105357		0.706	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2		0	51	0	G	NM_024729		50762495	1			no_errors	ENST00000262269	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	50762495	G	A	50762495	3	1	65	1	0	0	0	0	1	0	0	0	10071	1087	38	1	2397	1	MYH14	19	50762495	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	1109935	50762495	8366488	196	18025											
IGLON5	402665	genome.wustl.edu	37	chr19	51830117	51830117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaacggggttaactcggCgcccgacagccgccgcgtgc	7	5	13	16	7	1	0	1	0	0	0	2	1	1	0	3	3	4	1	3	3	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:51830117C>T	ENST00000270642.8	+	5	611	c.611C>T	c.(610-612)gCg>gTg	p.A204V		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	204	Ig-like C2-type 2.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						GTTAACTCGGCGCCCGACAGC	0.667																																																	0													8	11	10					19																	51830117		1846	4067	5913	SO:0001583	missense	0				CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.611C>T	19.37:g.51830117C>T	ENSP00000270642:p.Ala204Val			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A204V	ENST00000270642.8	37	c.611	CCDS46158.1	19	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980865	0.53827	.	.	ENSG00000142549	ENST00000270642	T	0.36520	1.25	4.36	4.36	0.52297	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.241411	0.41938	D	0.000792	T	0.27205	0.0667	L	0.31157	0.91	0.32272	N	0.568751	B	0.24368	0.102	B	0.31245	0.126	T	0.28332	-1.0047	10	0.45353	T	0.12	-23.5762	8.1063	0.30887	0.0:0.8929:0.0:0.1071	.	204	A6NGN9	IGLO5_HUMAN	V	204	ENSP00000270642:A204V	ENSP00000270642:A204V	A	+	2	0	IGLON5	56521929	0.010000	0.17322	0.997000	0.53966	0.956000	0.61745	0.702000	0.25631	2.278000	0.76064	0.563000	0.77884	GCG	IGLON5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000142549		0.667	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGLON5	HGNC	protein_coding	OTTHUMT00000335149.1	-	0	50	0	C	NM_001101372		51830117	1	tier1	-	no_errors	ENST00000270642	ensembl	human	known	74_37	missense	49.21	31	31	SNP	0.997	T	T	51830117	C	T	51830117	3	4	65	1	0	0	0	0	1	0	0	0	7622	768	27	1	629	1	IGLON5	19	51830117	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	1067622	51830117	7298866	197	18026											
ZNF528	84436	genome.wustl.edu	37	chr19	52919173	52919173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaaccttacaaatgtgaAgaatgtggcaaagcattttc	16	10	9	6	0	0	3	0	1	0	2	1	4	0	3	1	1	3	2	1	1	6	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:52919173A>C	ENST00000360465.3	+	7	1494	c.1068A>C	c.(1066-1068)gaA>gaC	p.E356D	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ACAAATGTGAAGAATGTGGCA	0.393																																																	0													72	70	71					19																	52919173		2203	4300	6503	SO:0001583	missense	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1068A>C	19.37:g.52919173A>C	ENSP00000353652:p.Glu356Asp		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E356D	ENST00000360465.3	37	c.1068	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	A	8.031	0.761837	0.15914	.	.	ENSG00000167555	ENST00000360465	T	0.16897	2.31	2.08	-0.975	0.10289	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	N	0.11201	0.11	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36383	-0.9750	9	0.35671	T	0.21	.	0.2688	0.00229	0.2411:0.1686:0.3019:0.2884	.	356	Q3MIS6	ZN528_HUMAN	D	356	ENSP00000353652:E356D	ENSP00000353652:E356D	E	+	3	2	ZNF528	57610985	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-3.867000	0.00346	0.001000	0.14605	-0.438000	0.05819	GAA	ZNF528	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167555		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	-	0	25	0	A	NM_032423		52919173	1	tier1	-	no_errors	ENST00000360465	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.001	C	C	52919173	A	C	52919173	3	2	65	1	0	0	0	0	1	0	0	0	18017	69	3	4	1082	4	ZNF528	19	52919173	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	1089056	52919173	6209810	198	18027											
LENG9	94059	genome.wustl.edu	37	chr19	54973452	54973452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgggggtgcagctgccCtggagactgtagtgtactca	7	9	17	8	0	1	1	1	0	0	1	1	3	1	1	1	4	4	4	1	4	2	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr19:54973452C>T	ENST00000333834.4	-	1	1442	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	442							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		TGCAGCTGCCCTGGAGACTGT	0.637																																																	0													74	75	75					19																	54973452		2203	4300	6503	SO:0001583	missense	0			AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.1324G>A	19.37:g.54973452C>T	ENSP00000331647:p.Gly442Arg		B2VAM3	Missense_Mutation	SNP	superfamily_RNA_ligase/cNuc_Pdiesterase,smart_Znf_CCCH	p.G442R	ENST00000333834.4	37	c.1324	CCDS12895.2	19	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269774	0.40095	.	.	ENSG00000182909	ENST00000333834	T	0.35236	1.32	4.09	1.89	0.25635	RNA ligase/cyclic nucleotide phosphodiesterase (1);	0.440036	0.22159	U	0.063802	T	0.21509	0.0518	L	0.38175	1.15	0.09310	N	1	B	0.25904	0.137	B	0.27887	0.084	T	0.26950	-1.0088	10	0.06625	T	0.88	.	6.8249	0.23876	0.0:0.7783:0.0:0.2217	.	442	Q96B70	LENG9_HUMAN	R	442	ENSP00000331647:G442R	ENSP00000331647:G442R	G	-	1	0	LENG9	59665264	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.798000	0.27014	0.480000	0.27534	0.462000	0.41574	GGG	LENG9	-	superfamily_RNA_ligase/cNuc_Pdiesterase	ENSG00000182909		0.637	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG9	HGNC	protein_coding	OTTHUMT00000140806.3	-	0	45	0	C	NM_198988		54973452	-1	tier1	-	no_errors	ENST00000333834	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.000	T	T	54973452	C	T	54973452	3	4	65	1	0	0	0	0	1	0	0	0	8753	681	24	3	185	3	LENG9	19	54973452	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	2054279	54973452	4155531	199	18028											
C20orf194	25943	genome.wustl.edu	37	chr20	3299048	3299048	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagacggccatacaagcCtgcattgaatgagaaaccag	15	7	9	10	1	1	3	1	2	0	2	1	4	1	3	3	1	4	1	3	1	5	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:3299048C>T	ENST00000252032.9	-	17	1424		c.e17-1		C20orf194_ENST00000453730.2_Splice_Site|C20orf194_ENST00000498079.1_5'Flank	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194											NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CCATACAAGCCTGCATTGAAT	0.413																																																	0													59	59	59					20																	3299048		1899	4113	6012	SO:0001630	splice_region_variant	0			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1357-1G>A	20.37:g.3299048C>T			Q66K86|Q6P2R9|Q9UFX9	Splice_Site	SNP	-	e17-1	ENST00000252032.9	37	c.1357-1	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164169	0.57476	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4744	0.90786	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf194	3247048	1.000000	0.71417	0.997000	0.53966	0.549000	0.35272	5.919000	0.70005	2.726000	0.93360	0.650000	0.86243	.	C20orf194	-	-	ENSG00000088854		0.413	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	-	0	44	0	C	NM_001009984	Intron	3299048	-1	tier1	-	no_errors	ENST00000252032	ensembl	human	known	74_37	splice_site	47.73	23	21	SNP	1.000	T	T	3299048	C	T	3299048	5	4	65	1	0	0	0	0	0	0	1	0	2106	695	24	3	2261	3	C20orf194	20	3299048	Splice_Site	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09		3299048	59726472	200	18029											
ADA	100	genome.wustl.edu	37	chr20	43251252	43251252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgcatgctccgtgtcCggcttccaggcaccagtgag	7	9	12	13	2	0	2	0	2	0	0	3	2	3	2	4	2	2	4	4	2	0	1	rs562095440		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr20:43251252C>T	ENST00000372874.4	-	9	956	c.822G>A	c.(820-822)ccG>ccA	p.P274P	ADA_ENST00000464097.1_5'UTR|ADA_ENST00000537820.1_Silent_p.P250P|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	274			P -> L (in ADASCID; dbSNP:rs121908738). {ECO:0000269|PubMed:2166947}.		adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GCTCCGTGTCCGGCTTCCAGG	0.587									Adenosine Deaminase Deficiency				C|||	1	0.000199681	0	0	5008	,	,		18019	0		0	False		,,,				2504	0.001																0													56	54	55					20																	43251252		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.822G>A	20.37:g.43251252C>T			Q53F92|Q6LA59	Silent	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.P274	ENST00000372874.4	37	c.822	CCDS13335.1	20																																																																																			ADA	-	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	ENSG00000196839		0.587	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	-	0	30	0	C	NM_000022		43251252	-1	tier1	-	no_errors	ENST00000372874	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.037	T	T	43251252	C	T	43251252	2	4	65	1	0	0	0	0	0	0	0	1	230	639	23	1		1	ADA	20	43251252	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	39952204	43251252	19774268	201	18030											
TUBA8	51807	genome.wustl.edu	37	chr22	18609304	18609304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggagccctacaacTccatcctgaccacccacacc	10	6	7	18	0	0	1	0	1	0	0	2	2	2	2	6	2	3	0	6	2	2	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:18609304T>C	ENST00000330423.3	+	4	632	c.559T>C	c.(559-561)Tcc>Ccc	p.S187P	TUBA8_ENST00000316027.6_Missense_Mutation_p.S121P	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	187					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						GCCCTACAACTCCATCCTGAC	0.527																																																	0													138	125	129					22																	18609304		2203	4300	6503	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.559T>C	22.37:g.18609304T>C	ENSP00000333326:p.Ser187Pro		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.S187P	ENST00000330423.3	37	c.559	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	14.70	2.615168	0.46631	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	T;T;T	0.72051	-0.62;-0.62;-0.62	5.67	4.61	0.57282	Tubulin/FtsZ, GTPase domain (4);	0.104353	0.64402	D	0.000002	D	0.88463	0.6443	H	0.96889	3.9	0.54753	D	0.99998	D;D;D	0.76494	0.989;0.999;0.994	D;D;D	0.74674	0.974;0.984;0.922	D	0.90882	0.4754	10	0.87932	D	0	.	12.2579	0.54634	0.0:0.0:0.1421:0.8579	.	121;211;187	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	P	121;187;211	ENSP00000318575:S121P;ENSP00000333326:S187P;ENSP00000412646:S211P	ENSP00000318575:S121P	S	+	1	0	TUBA8	16989304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.163000	0.58183	1.035000	0.39972	0.533000	0.62120	TCC	TUBA8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	ENSG00000183785		0.527	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	-	0	64	0	T	NM_018943		18609304	1	tier1	-	no_errors	ENST00000330423	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C	C	18609304	T	C	18609304	3	2	65	1	0	0	0	0	1	0	0	0	16799	1551	54	4	573	4	TUBA8	22	18609304	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09		18609304	32695262	202	18031											
MYO18B	84700	genome.wustl.edu	37	chr22	26166123	26166123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagtctggctggctcAgaaggatggatttactcttg	11	11	13	6	0	3	2	1	0	2	2	3	5	3	4	0	4	1	2	0	4	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:26166123A>G	ENST00000407587.2	+	5	1728	c.1559A>G	c.(1558-1560)cAg>cGg	p.Q520R	MYO18B_ENST00000335473.7_Missense_Mutation_p.Q520R|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q520R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	520						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCTGGCTCAGAAGGATGGA	0.512																																																	0													178	177	177					22																	26166123		1981	4173	6154	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1559A>G	22.37:g.26166123A>G	ENSP00000386096:p.Gln520Arg		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q520R	ENST00000407587.2	37	c.1559		22	.	.	.	.	.	.	.	.	.	.	A	13.10	2.136326	0.37728	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.23;-2.23;-2.25	4.52	3.46	0.39613	.	0.146153	0.47093	D	0.000255	D	0.84165	0.5412	M	0.66939	2.045	0.32756	N	0.505799	B;B;B;B	0.20671	0.005;0.017;0.047;0.029	B;B;B;B	0.19946	0.004;0.01;0.027;0.022	T	0.82261	-0.0545	10	0.49607	T	0.09	.	9.3651	0.38219	0.9127:0.0:0.0873:0.0	.	33;520;520;520	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	R	520	ENSP00000441229:Q520R;ENSP00000334563:Q520R;ENSP00000386096:Q520R	ENSP00000334563:Q520R	Q	+	2	0	MYO18B	24496123	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	4.825000	0.62708	0.562000	0.29204	0.260000	0.18958	CAG	MYO18B	-	NULL	ENSG00000133454		0.512	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0	77	0	A	NM_032608		26166123	1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	38.54	59	37	SNP	1.000	G	G	26166123	A	G	26166123	3	3	65	1	0	0	0	0	1	0	0	0	10104	188	7	4	1573	4	MYO18B	22	26166123	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09	7556819	26166123	25138443	203	18032											
GAL3ST1	9514	genome.wustl.edu	37	chr22	30951613	30951613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcgtagtagcgatccGggtcttgcaggaactcggtc	6	10	16	9	4	1	0	0	0	1	0	5	2	2	1	1	5	3	3	1	5	3	3			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:30951613G>A	ENST00000402321.1	-	3	916	c.599C>T	c.(598-600)cCg>cTg	p.P200L	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.P200L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.P200L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.P200L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	200					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGCGATCCGGGTCTTGCAG	0.627																																																	0													72	65	67					22																	30951613		2200	4299	6499	SO:0001583	missense	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"Sulfotransferases, membrane-bound"	24240	protein-coding gene	gene with protein product	"cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.599C>T	22.37:g.30951613G>A	ENSP00000385735:p.Pro200Leu		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.P200L	ENST00000402321.1	37	c.599	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479887	0.84747	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.88640	2.97	0.80722	D	1	D	0.59767	0.986	P	0.50825	0.651	T	0.64210	-0.6461	10	0.54805	T	0.06	-23.6209	18.397	0.90502	0.0:0.0:1.0:0.0	.	200	Q99999	G3ST1_HUMAN	L	200;200;200;200;200;200;200;200;201;200	ENSP00000385825:P200L;ENSP00000385735:P200L;ENSP00000384122:P200L;ENSP00000384388:P200L;ENSP00000343234:P200L;ENSP00000385207:P200L;ENSP00000402587:P200L;ENSP00000390545:P200L;ENSP00000395080:P201L;ENSP00000405017:P200L	ENSP00000343234:P200L	P	-	2	0	GAL3ST1	29281613	1.000000	0.71417	0.969000	0.41365	0.837000	0.47467	9.754000	0.98908	2.457000	0.83068	0.484000	0.47621	CCG	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	ENSG00000128242		0.627	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	-	0	53	0	G	NM_004861		30951613	-1	tier1	-	no_errors	ENST00000338911	ensembl	human	known	74_37	missense	39.13	28	18	SNP	1.000	A	A	30951613	G	A	30951613	3	1	65	1	0	0	0	0	1	0	0	0	6222	1116	39	1	676	1	GAL3ST1	22	30951613	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	4785490	30951613	20352953	204	18033											
ANKRD54	129138	genome.wustl.edu	37	chr22	38229062	38229062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcaggggtgtgcgaccaGctcggtccagggcatctaca	7	7	16	11	2	1	0	0	0	1	0	3	1	2	0	2	5	4	3	2	5	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:38229062G>A	ENST00000215941.4	-	6	815	c.623C>T	c.(622-624)gCt>gTt	p.A208V	ANKRD54_ENST00000411961.2_Missense_Mutation_p.A192V|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.A88V|ANKRD54_ENST00000609454.1_Intron	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	208	LYN-binding. {ECO:0000250}.				nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					TGTGCGACCAGCTCGGTCCAG	0.612																																																	0													63	63	63					22																	38229062		2203	4300	6503	SO:0001583	missense	0			BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"Ankyrin repeat domain containing"	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000215941.4:c.623C>T	22.37:g.38229062G>A	ENSP00000215941:p.Ala208Val		Q6ZSB1|Q9UGV1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A208V	ENST00000215941.4	37	c.623	CCDS13959.1	22	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708775	0.89018	.	.	ENSG00000100124	ENST00000215941;ENST00000406423;ENST00000411961;ENST00000424350	T;D;T;D	0.82711	-0.14;-1.64;-0.14;-1.64	5.59	5.59	0.84812	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.85448	0.5699	N	0.20986	0.625	0.80722	D	1	P;D	0.89917	0.948;1.0	B;D	0.91635	0.431;0.999	T	0.82184	-0.0583	10	0.20519	T	0.43	4.3736	19.5996	0.95554	0.0:0.0:1.0:0.0	.	88;208	B5MCX7;Q6NXT1	.;ANR54_HUMAN	V	208;88;192;75	ENSP00000215941:A208V;ENSP00000384392:A88V;ENSP00000405782:A192V;ENSP00000393035:A75V	ENSP00000215941:A208V	A	-	2	0	ANKRD54	36559008	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.847000	0.92166	2.635000	0.89317	0.650000	0.86243	GCT	ANKRD54	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000100124		0.612	ANKRD54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD54	HGNC	protein_coding	OTTHUMT00000319490.1		0	21	0	G	NM_138797		38229062	-1			no_errors	ENST00000215941	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	38229062	G	A	38229062	3	1	65	1	0	0	0	0	1	0	0	0	680	971	34	3	291	3	ANKRD54	22	38229062	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	7277449	38229062	13075504	205	18034											
KCNJ4	3761	genome.wustl.edu	37	chr22	38823567	38823567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgcaccgaaatgaccgCgtggtggctgaacagcaacg	10	5	14	12	6	0	2	0	2	0	0	1	3	0	2	2	2	3	3	2	2	3	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:38823567C>T	ENST00000303592.3	-	2	829	c.571G>A	c.(571-573)Gcg>Acg	p.A191T	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	191					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GAAATGACCGCGTGGTGGCTG	0.637																																																	0													45	44	44					22																	38823567		2203	4300	6503	SO:0001583	missense	0			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.571G>A	22.37:g.38823567C>T	ENSP00000306497:p.Ala191Thr		Q14D44	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.A191T	ENST00000303592.3	37	c.571	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	C	27.0	4.790384	0.90367	.	.	ENSG00000168135	ENST00000303592	D	0.95171	-3.63	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	H	0.97918	4.105	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99799	1.1035	10	0.87932	D	0	.	18.5997	0.91244	0.0:1.0:0.0:0.0	.	191	P48050	IRK4_HUMAN	T	191	ENSP00000306497:A191T	ENSP00000306497:A191T	A	-	1	0	KCNJ4	37153513	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.779000	0.85648	2.472000	0.83506	0.555000	0.69702	GCG	KCNJ4	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000168135		0.637	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	-	0	40	0	C	NM_004981		38823567	-1	tier1	-	no_errors	ENST00000303592	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	T	T	38823567	C	T	38823567	3	4	65	1	0	0	0	0	1	0	0	0	8080	768	27	1	770	1	KCNJ4	22	38823567	Missense_Mutation	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	594505	38823567	12480999	206	18035											
PHF21B	112885	genome.wustl.edu	37	chr22	45309798	45309798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcggccgcgactctgcCgtgctctcgggctgcgtctg	1	9	17	14	6	3	0	0	0	3	0	4	1	3	0	2	3	3	2	2	3	0	0	rs147703835		TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chr22:45309798C>T	ENST00000313237.5	-	5	885	c.735G>A	c.(733-735)acG>acA	p.T245T	PHF21B_ENST00000396103.3_Silent_p.T203T|PHF21B_ENST00000403565.1_Silent_p.T41T|PHF21B_ENST00000404079.2_Silent_p.T191T|PHF21B_ENST00000447824.3_Silent_p.T191T	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	245							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCGACTCTGCCGTGCTCTCGG	0.632																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	82	82	82		609,573,735	-3.1	0	22	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	PHF21B	NM_001135862.2,NM_001242450.1,NM_138415.4	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	203/490,191/478,245/532	45309798	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.735G>A	22.37:g.45309798C>T			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T245	ENST00000313237.5	37	c.735	CCDS14061.1	22																																																																																			PHF21B	-	NULL	ENSG00000056487		0.632	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0	68	0	C	NM_138415		45309798	-1	tier1	rs147703835	no_errors	ENST00000313237	ensembl	human	known	74_37	silent	18.18	54	12	SNP	0.003	T	T	45309798	C	T	45309798	2	4	65	1	0	0	0	0	0	0	0	1	11873	639	23	1		1	PHF21B	22	45309798	Silent	SNP	C	TCGA-L5-A4OR-01A-11D-A27G-09	6486231	45309798	5994768	207	18036											
SHROOM2	357	genome.wustl.edu	37	chrX	9912763	9912763	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggaggacgtgcaggccaAcaccgtgctgggggccgagg	7	4	19	11	3	0	0	0	0	0	0	0	3	0	2	3	6	3	3	3	6	1	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:9912763A>T	ENST00000380913.3	+	9	4484	c.4394A>T	c.(4393-4395)aAc>aTc	p.N1465I	SHROOM2_ENST00000418909.2_Missense_Mutation_p.N300I	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1465	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GTGCAGGCCAACACCGTGCTG	0.632																																																	0													55	46	49					X																	9912763		2203	4300	6503	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4394A>T	X.37:g.9912763A>T	ENSP00000370299:p.Asn1465Ile		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N1465I	ENST00000380913.3	37	c.4394	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	a	25.8	4.678946	0.88542	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.36340	1.26;1.26;1.26	5.31	5.31	0.75309	Apx/shroom, ASD2 (2);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.73442	-0.3981	10	0.72032	D	0.01	-66.7868	14.4637	0.67470	1.0:0.0:0.0:0.0	.	299;1465	Q68DU3;Q13796	.;SHRM2_HUMAN	I	1465;300;300;300	ENSP00000370299:N1465I;ENSP00000415229:N300I;ENSP00000406724:N300I	ENSP00000370299:N1465I	N	+	2	0	SHROOM2	9872763	1.000000	0.71417	0.975000	0.42487	0.836000	0.47400	8.712000	0.91403	1.796000	0.52611	0.483000	0.47432	AAC	SHROOM2	-	pfam_ASD2	ENSG00000146950		0.632	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0	31	0	A	NM_001649		9912763	1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	85.71	6	36	SNP	1.000	T	T	9912763	A	T	9912763	3	4	65	1	0	0	0	0	1	0	0	0	14339	43	2	5	4428	5	SHROOM2	23	9912763	Missense_Mutation	SNP	A	TCGA-L5-A4OR-01A-11D-A27G-09		9912763	145357797	208	18037											
CACNA1F	778	genome.wustl.edu	37	chrX	49082518	49082518	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaggacccggttggctcGgcggaggcggcggctggggg	4	4	22	11	6	0	0	0	0	0	0	1	3	0	2	2	10	0	3	2	10	1	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:49082518G>A	ENST00000376265.2	-	13	1598	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R502*|CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.R448*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	513					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGTTGGCTCGGCGGAGGCGG	0.652																																																	0													20	15	17					X																	49082518		2189	4283	6472	SO:0001587	stop_gained	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.1537C>T	X.37:g.49082518G>A	ENSP00000365441:p.Arg513*		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R513*	ENST00000376265.2	37	c.1537	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819196	0.90873	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	3.56	-5.94	0.02247	.	1.401140	0.05313	U	0.525221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8498	0.63489	0.0:0.0:0.4131:0.5869	.	.	.	.	X	448;502;513	.	ENSP00000321618:R502X	R	-	1	2	CACNA1F	48969462	0.001000	0.12720	0.354000	0.25760	0.613000	0.37349	0.564000	0.23563	-1.032000	0.03304	-0.884000	0.02946	CGA	CACNA1F	-	prints_VDCC_L_a1su	ENSG00000102001		0.652	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0	21	0	G	NM_005183		49082518	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	nonsense	90.48	4	38	SNP	0.747	A	A	49082518	G	A	49082518	4	1	65	1	0	0	0	0	0	1	0	0	2550	1124	39	1	4540	1	CACNA1F	23	49082518	Nonsense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	39169755	49082518	106188042	209	18038											
TRO	7216	genome.wustl.edu	37	chrX	54949885	54949885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagggcaagaaggctgccaGcaggggcccaaattctgtct	11	6	13	11	0	2	1	0	0	2	1	2	1	2	1	2	4	2	3	2	4	4	1			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:54949885G>T	ENST00000173898.7	+	3	1032	c.920G>T	c.(919-921)aGc>aTc	p.S307I	TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.S307I|TRO_ENST00000319167.8_Missense_Mutation_p.S307I|TRO_ENST00000420798.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	307					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGGCTGCCAGCAGGGGCCCA	0.552																																																	0													14	14	14					X																	54949885		1883	4083	5966	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.920G>T	X.37:g.54949885G>T	ENSP00000173898:p.Ser307Ile		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S307I	ENST00000173898.7	37	c.920	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	1.369	-0.586643	0.03827	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.43294	0.95;0.95;0.95	3.13	-3.11	0.05299	.	.	.	.	.	T	0.17408	0.0418	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.20174	-1.0283	8	.	.	.	.	0.3233	0.00306	0.2896:0.1924:0.1358:0.3823	.	307;307	Q96SX2;Q12816	.;TROP_HUMAN	I	307	ENSP00000173898:S307I;ENSP00000318278:S307I;ENSP00000364162:S307I	.	S	+	2	0	TRO	54966610	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.314000	0.08092	-0.777000	0.04572	-0.528000	0.04320	AGC	TRO	-	NULL	ENSG00000067445		0.552	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	-	0	13	0	G	NM_016157		54949885	1	tier1	-	no_errors	ENST00000173898	ensembl	human	known	74_37	missense	82.76	5	24	SNP	0.000	T	T	54949885	G	T	54949885	3	4	65	1	0	0	0	0	1	0	0	0	16622	971	34	3	926	3	TRO	23	54949885	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	5867367	54949885	100320675	210	18039											
RRAGB	10325	genome.wustl.edu	37	chrX	55744781	55744781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaagaatctgactctgaGaaaacgacggagaaagaaaa	20	5	11	5	2	2	5	0	2	2	4	2	9	2	6	0	2	1	0	0	2	7	0			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:55744781G>T	ENST00000262850.7	+	1	464	c.21G>T	c.(19-21)gaG>gaT	p.E7D	RRAGB_ENST00000374941.4_Missense_Mutation_p.E7D	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CTGACTCTGAGAAAACGACGG	0.458											OREG0019812	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77	72	74					X																	55744781		2203	4300	6503	SO:0001583	missense	0			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.21G>T	X.37:g.55744781G>T	ENSP00000262850:p.Glu7Asp	1010		Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.E7D	ENST00000262850.7	37	c.21	CCDS14372.1	X	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894848	0.52121	.	.	ENSG00000083750	ENST00000374941;ENST00000262850	T	0.66638	-0.22	4.34	2.58	0.30949	.	0.000000	0.46758	D	0.000276	T	0.60945	0.2308	N	0.19112	0.55	0.27220	N	0.959681	D;P	0.56035	0.974;0.956	D;P	0.67725	0.953;0.899	T	0.51795	-0.8660	10	0.15952	T	0.53	-14.203	5.9426	0.19201	0.2387:0.0:0.7613:0.0	.	7;7	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	D	7	ENSP00000364077:E7D	ENSP00000262850:E7D	E	+	3	2	RRAGB	55761506	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.198000	0.42705	0.586000	0.29626	0.600000	0.82982	GAG	RRAGB	-	NULL	ENSG00000083750		0.458	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGB	HGNC	protein_coding	OTTHUMT00000056878.1		0	27	0	G	NM_016656		55744781	1			no_errors	ENST00000262850	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	55744781	G	T	55744781	3	4	65	1	0	0	0	0	1	0	0	0	13718	933	33	3	23	3	RRAGB	23	55744781	Missense_Mutation	SNP	G	TCGA-L5-A4OR-01A-11D-A27G-09	794896	55744781	99525779	211	18040											
PABPC5	140886	genome.wustl.edu	37	chrX	90690649	90690649	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgctctgtacgtgggtgacTtggacccagatgtcaccgag	7	9	13	12	3	2	2	1	1	1	1	2	4	2	3	3	2	1	2	3	2	1	2			TCGA-L5-A4OR-01A-11D-A27G-09	TCGA-L5-A4OR-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7aeafb55-1cdd-4496-83c4-1a7360effc90	bdf32094-4e16-4cea-906e-c047bf493e06	g.chrX:90690649T>G	ENST00000312600.3	+	2	287	c.73T>G	c.(73-75)Ttg>Gtg	p.L25V	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	25	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGTGGGTGACTTGGACCCAGA	0.577																																																	0													73	56	62					X																	90690649		2203	4300	6503	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.73T>G	X.37:g.90690649T>G	ENSP00000308012:p.Leu25Val		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.L25V	ENST00000312600.3	37	c.73	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	T	15.73	2.921196	0.52653	.	.	ENSG00000174740	ENST00000312600	T	0.19806	2.12	4.43	2.06	0.26882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.46600	0.1401	M	0.90595	3.13	0.46131	D	0.99888	D	0.71674	0.998	D	0.80764	0.994	T	0.39121	-0.9629	10	0.87932	D	0	.	5.6935	0.17843	0.0:0.3396:0.0:0.6604	.	25	Q96DU9	PABP5_HUMAN	V	25	ENSP00000308012:L25V	ENSP00000308012:L25V	L	+	1	2	PABPC5	90577305	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.442000	0.35046	0.319000	0.23209	0.486000	0.48141	TTG	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.577	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	-	0	22	0	T	NM_080832		90690649	1	tier1	-	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	88.89	3	24	SNP	1.000	G	G	90690649	T	G	90690649	3	3	65	1	0	0	0	0	1	0	0	0	11406	1606	56	4	75	4	PABPC5	23	90690649	Missense_Mutation	SNP	T	TCGA-L5-A4OR-01A-11D-A27G-09	34945868	90690649	64579911	212	18041											
COL16A1	1307	genome.wustl.edu	37	chr1	32165447	32165447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgggggccgcccccaggCgcaggatgagaggccccttg	6	4	16	15	3	1	1	1	1	0	1	1	3	1	2	5	5	0	1	5	5	0	1	rs573984488		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:32165447C>T	ENST00000373672.3	-	4	749	c.233G>A	c.(232-234)cGc>cAc	p.R78H	COL16A1_ENST00000271069.6_Missense_Mutation_p.R78H|COL16A1_ENST00000373668.3_Missense_Mutation_p.R78H	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	78	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CGCCCCCAGGCGCAGGATGAG	0.592																																					Colon(143;498 1786 21362 25193 36625)												0													67	69	68					1																	32165447		1938	4139	6077	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.233G>A	1.37:g.32165447C>T	ENSP00000362776:p.Arg78His		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R78H	ENST00000373672.3	37	c.233	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.960572	0.74016	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.41065	1.01;1.01;1.01	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000011	T	0.64450	0.2599	M	0.72353	2.195	0.42246	D	0.991957	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.69921	-0.5014	10	0.87932	D	0	.	16.67	0.85263	0.0:1.0:0.0:0.0	.	78;78	A6NCT7;Q07092	.;COGA1_HUMAN	H	78	ENSP00000362776:R78H;ENSP00000271069:R78H;ENSP00000362772:R78H	ENSP00000271069:R78H	R	-	2	0	COL16A1	31938034	0.998000	0.40836	0.999000	0.59377	0.821000	0.46438	4.426000	0.59882	2.302000	0.77476	0.556000	0.70494	CGC	COL16A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000084636		0.592	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	0	57	0	C	NM_001856		32165447	-1	tier1	-	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	T	T	32165447	C	T	32165447	3	4	66	1	0	0	0	0	1	0	0	0	3680	768	27	1	4853	1	COL16A1	1	32165447	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09		32165447	217085174	1	18042											
MSH4	4438	genome.wustl.edu	37	chr1	76333264	76333264	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccttggaacttgtggaTcctttaaaggtaatttatgt	11	16	8	6	0	0	0	0	0	0	0	1	2	1	2	2	3	2	1	2	3	6	8			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:76333264T>C	ENST00000263187.3	+	9	1400	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	432					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AACTTGTGGATCCTTTAAAGG	0.308								Mismatch excision repair (MMR)																																									0													90	94	93					1																	76333264		2201	4296	6497	SO:0001819	synonymous_variant	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)"			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1296T>C	1.37:g.76333264T>C			Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.D432	ENST00000263187.3	37	c.1296	CCDS670.1	1																																																																																			MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1		0	48	0	T	NM_002440		76333264	1			no_errors	ENST00000263187	ensembl	human	known	74_37	silent	8.33	55	5	SNP	0.995	C	C	76333264	T	C	76333264	2	2	66	1	0	0	0	0	0	0	0	1	9910	1432	50	4		4	MSH4	1	76333264	Silent	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	44167817	76333264	172917357	2	18043											
ELTD1	64123	genome.wustl.edu	37	chr1	79411960	79411960	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagataaccgaacttaccTatacagacggttccatcatt	13	12	5	11	2	1	2	1	0	0	2	2	3	2	2	3	1	4	1	3	1	6	7			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:79411960T>G	ENST00000370742.3	-	3	387	c.324A>C	c.(322-324)atA>atC	p.I108I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	108	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGAACTTACCTATACAGACGG	0.368																																																	0													86	81	83					1																	79411960		1854	4104	5958	SO:0001630	splice_region_variant	0			AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"-", "GPCR / Class B : Orphans"	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.325+1A>C	1.37:g.79411960T>G			B1AR71|Q5KU34	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.I108	ENST00000370742.3	37	c.324	CCDS41352.1	1																																																																																			ELTD1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000162618		0.368	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELTD1	HGNC	protein_coding	OTTHUMT00000026859.1	-	0	31	0	T	NM_022159	Silent	79411960	-1	tier1	-	no_errors	ENST00000370742	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.994	G	G	79411960	T	G	79411960	5	3	66	1	0	0	0	0	0	0	1	0	5100	1536	53	4	1800	4	ELTD1	1	79411960	Splice_Site	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	3078696	79411960	169838661	3	18044											
IGSF3	3321	genome.wustl.edu	37	chr1	117127484	117127484	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcctgctctccataGtggaaggtggcgtcacggct	5	11	14	11	2	2	0	1	0	1	0	3	1	2	1	2	5	2	3	2	5	2	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:117127484G>A	ENST00000369486.3	-	9	3396	c.2631C>T	c.(2629-2631)caC>caT	p.H877H	IGSF3_ENST00000369483.1_Silent_p.H897H|IGSF3_ENST00000318837.6_Silent_p.H897H	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	877	Ig-like C2-type 7.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GCTCTCCATAGTGGAAGGTGG	0.592																																																	0													81	78	79					1																	117127484		2203	4300	6503	SO:0001819	synonymous_variant	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2631C>T	1.37:g.117127484G>A			A6NJZ6|A6NMC7	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.H897	ENST00000369486.3	37	c.2691	CCDS30813.1	1																																																																																			IGSF3	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143061		0.592	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0	58	0	G	NM_001542		117127484	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	silent	16.36	46	9	SNP	1.000	A	A	117127484	G	A	117127484	2	1	66	1	0	0	0	0	0	0	0	1	7628	1020	36	3		3	IGSF3	1	117127484	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	37715524	117127484	132123137	4	18045											
TRIM46	80128	genome.wustl.edu	37	chr1	155150650	155150650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcctgctggatggctcagGtctggtgggctatgcccagg	5	9	17	10	0	2	0	1	0	1	0	2	2	2	1	2	6	3	3	2	6	1	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:155150650G>T	ENST00000334634.4	+	6	1082	c.1082G>T	c.(1081-1083)gGt>gTt	p.G361V	TRIM46_ENST00000368383.3_Missense_Mutation_p.G361V|TRIM46_ENST00000468878.1_3'UTR|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_Missense_Mutation_p.G361V|TRIM46_ENST00000368382.1_Missense_Mutation_p.G338V|TRIM46_ENST00000545012.1_Missense_Mutation_p.G235V|TRIM46_ENST00000543729.1_Missense_Mutation_p.G368V|TRIM46_ENST00000368385.4_Missense_Mutation_p.G361V	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	361						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGGCTCAGGTCTGGTGGGC	0.607																																																	0													33	36	35					1																	155150650		2203	4300	6503	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1082G>T	1.37:g.155150650G>T	ENSP00000334657:p.Gly361Val		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.G361V	ENST00000334634.4	37	c.1082	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902142	0.72754	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.51574	0.76;1.0;1.0;0.7;1.0;1.0;1.0	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000001	T	0.52597	0.1744	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.996;1.0	D;D;D;D	0.91635	0.925;0.998;0.925;0.999	T	0.56523	-0.7965	10	0.59425	D	0.04	.	13.0708	0.59059	0.0:0.0:1.0:0.0	.	361;338;361;361	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	V	368;319;361;235;361;361;338;361	ENSP00000442719:G368V;ENSP00000357369:G361V;ENSP00000440254:G235V;ENSP00000376245:G361V;ENSP00000357367:G361V;ENSP00000357366:G338V;ENSP00000334657:G361V	ENSP00000334657:G361V	G	+	2	0	TRIM46	153417274	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	9.099000	0.94207	2.011000	0.59026	0.313000	0.20887	GGT	TRIM46	-	NULL	ENSG00000163462		0.607	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1		0	54	0	G	NM_025058		155150650	1			no_errors	ENST00000334634	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.999	T	T	155150650	G	T	155150650	3	4	66	1	0	0	0	0	1	0	0	0	16569	1261	44	3	1104	3	TRIM46	1	155150650	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	38023166	155150650	94099971	5	18046											
OR6K3	391114	genome.wustl.edu	37	chr1	158687131	158687131	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataagtgtcgctgaaacgcaAgtacatgagtgatacactgc	14	9	10	8	2	0	3	0	3	0	0	1	3	0	3	0	0	4	3	0	0	5	3	rs371617141		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:158687131A>G	ENST00000368146.1	-	1	822	c.823T>C	c.(823-825)Ttg>Ctg	p.L275L	OR6K3_ENST00000368145.1_Silent_p.L259L			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L275V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTGAAACGCAAGTACATGAGT	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)						A		0,4406		0,0,2203	149	129	136		775	-7	0	1		136	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OR6K3	NM_001005327.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		259/316	158687131	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"GPCR / Class A : Olfactory receptors"	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.823T>C	1.37:g.158687131A>G			Q5VUV0|Q6IFR5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L275	ENST00000368146.1	37	c.823		1																																																																																			OR6K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000203757		0.463	OR6K3-201	KNOWN	basic	protein_coding	OR6K3	HGNC	protein_coding		-	0	54	0	A			158687131	-1	tier1	-	no_errors	ENST00000368146	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.000	G	G	158687131	A	G	158687131	2	3	66	1	0	0	0	0	0	0	0	1	11242	69	3	4		4	OR6K3	1	158687131	Silent	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	3536481	158687131	90563490	6	18047											
CFH	3075	genome.wustl.edu	37	chr1	196706673	196706673	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatccaggtcttcacaaGaaagttatgcacatgggact	13	11	8	9	0	3	1	2	0	1	1	4	2	4	2	1	2	1	2	1	2	3	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:196706673G>T	ENST00000367429.4	+	17	2905	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	889	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTCTTCACAAGAAAGTTATGC	0.358																																																	0													76	72	74					1																	196706673		2203	4300	6503	SO:0001587	stop_gained	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2665G>T	1.37:g.196706673G>T	ENSP00000356399:p.Glu889*		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E889*	ENST00000367429.4	37	c.2665	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	39	7.652392	0.98412	.	.	ENSG00000000971	ENST00000367429	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	8.5815	0.33632	0.109:0.0:0.891:0.0	.	.	.	.	X	889	.	ENSP00000356399:E889X	E	+	1	0	CFH	194973296	0.028000	0.19301	0.182000	0.23118	0.006000	0.05464	0.495000	0.22483	2.058000	0.61347	0.650000	0.86243	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.358	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0	40	0	G	NM_000186		196706673	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	0.706	T	T	196706673	G	T	196706673	4	4	66	1	0	0	0	0	0	1	0	0	3290	943	33	3	2749	3	CFH	1	196706673	Nonsense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	38019542	196706673	52543948	7	18048											
TAF1A	9015	genome.wustl.edu	37	chr1	222732053	222732054	+	Frame_Shift_Ins	INS	-	-	TTAA																															tcacagatctcttcatccgcINSttaattttcttccctaagat																										TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr1:222732053_222732054insTTAA	ENST00000352967.4	-	11	1489_1490	c.1301_1302insTTAA	c.(1300-1302)aagfs	p.K434fs	TAF1A_ENST00000350027.4_Frame_Shift_Ins_p.K434fs|TAF1A_ENST00000366890.1_Frame_Shift_Ins_p.K320fs|TAF1A_ENST00000391882.1_Frame_Shift_Ins_p.K320fs	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	434					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTCATCCGCTTAATTTTCTT	0.302																																																	0																																										SO:0001589	frameshift_variant	0			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1298_1301dupTTAA	1.37:g.222732054_222732057dupTTAA	ENSP00000327072:p.Lys434fs		B2RDZ8|D3DTB7|Q9NWA1	Frame_Shift_Ins	INS	pirsf_RNA_pol_I_TAF1A/TAFI48	p.K434fs	ENST00000352967.4	37	c.1302_1301	CCDS1531.1	1																																																																																			TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48	ENSG00000143498		0.302	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2		0	35	0	-	NM_005681		222732054	-1	tier1		no_errors	ENST00000350027	ensembl	human	known	74_37	frame_shift_ins	6.45	29	2	INS	0.980:0.984	TTAA	TTAA	222732054	-	TTAA	222732053	7	5	66	1	0	1	1	0	0	0	0	0	15566	796	28	0	54	0	TAF1A	1	222732053	Frame_Shift_Ins	INS	-	TCGA-L5-A4OS-01A-11D-A28B-09	26025380	222732053	26518568	8	18049											
HSPC159	29094	genome.wustl.edu	37	chr2	64682498	64682498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactagatgatggccatttAaacaactctttgagctctcc	13	12	6	10	0	2	3	0	2	2	1	3	3	2	3	2	1	4	1	2	1	5	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:64682498A>T	ENST00000238875.5	+	2	511	c.57A>T	c.(55-57)ttA>ttT	p.L19F	LGALSL_ENST00000409537.2_Missense_Mutation_p.L19F|AC008074.3_ENST00000441630.1_RNA	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	19						intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										ATGGCCATTTAAACAACTCTT	0.458																																																	0													158	164	162					2																	64682498		2203	4300	6503	SO:0001583	missense	0			AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"galectin-related protein"					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.57A>T	2.37:g.64682498A>T	ENSP00000238875:p.Leu19Phe		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.L19F	ENST00000238875.5	37	c.57	CCDS1877.1	2	.	.	.	.	.	.	.	.	.	.	A	15.16	2.751507	0.49257	.	.	ENSG00000119862	ENST00000238875;ENST00000409537	D;D	0.96300	-3.97;-3.97	4.97	1.18	0.20946	.	0.243585	0.35124	N	0.003428	D	0.95319	0.8481	L	0.36672	1.1	0.51012	D	0.999908	D	0.71674	0.998	D	0.83275	0.996	D	0.91676	0.5354	10	0.38643	T	0.18	-6.5795	4.9966	0.14243	0.4573:0.31:0.2327:0.0	.	19	Q3ZCW2	LEGL_HUMAN	F	19	ENSP00000238875:L19F;ENSP00000386242:L19F	ENSP00000238875:L19F	L	+	3	2	AC008074.1	64536002	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.657000	0.24963	0.202000	0.20498	0.460000	0.39030	TTA	LGALSL	-	NULL	ENSG00000119862		0.458	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALSL	HGNC	protein_coding	OTTHUMT00000251731.2	-	0	71	0	A	NM_014181		64682498	1	tier1	-	no_errors	ENST00000238875	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.998	T	T	64682498	A	T	64682498	3	4	66	1	0	0	0	0	1	0	0	0	7454	359	13	5	63	5	HSPC159	2	64682498	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09		64682498	178516875	9	18050											
ANTXR1	84168	genome.wustl.edu	37	chr2	69351771	69351771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcatcaccaccacacActgtgtaagtcataaccttt	12	12	4	13	0	4	0	4	0	0	0	4	0	4	0	3	0	1	1	3	0	2	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:69351771A>G	ENST00000303714.4	+	12	1269	c.947A>G	c.(946-948)cAc>cGc	p.H316R	ANTXR1_ENST00000409349.3_Missense_Mutation_p.H316R|ANTXR1_ENST00000409829.3_Missense_Mutation_p.H316R	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	316					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCACCACACACTGTGTAAGT	0.433									Familial Infantile Hemangioma																																								0													253	213	227					2																	69351771		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"anthrax toxin receptor", "tumor endothelial marker 8 precursor"	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.947A>G	2.37:g.69351771A>G	ENSP00000301945:p.His316Arg		A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.H316R	ENST00000303714.4	37	c.947	CCDS1892.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.47|11.47	1.647194|1.647194	0.29246|0.29246	.|.	.|.	ENSG00000169604|ENSG00000169604	ENST00000303714;ENST00000409829;ENST00000409349|ENST00000482235	D;D;D|.	0.85339|.	-1.97;-1.97;-1.97|.	5.3|5.3	4.14|4.14	0.48551|0.48551	Anthrax toxin receptor, extracellular (1);|.	0.371381|.	0.33753|.	N|.	0.004581|.	T|T	0.37945|0.37945	0.1022|0.1022	N|N	0.16478|0.16478	0.41|0.41	0.37311|0.37311	D|D	0.909111|0.909111	B;B;B|.	0.09022|.	0.002;0.001;0.001|.	B;B;B|.	0.12156|.	0.004;0.007;0.001|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.28530|.	T|.	0.3|.	-16.6491|-16.6491	8.6642|8.6642	0.34110|0.34110	0.9061:0.0:0.0939:0.0|0.9061:0.0:0.0939:0.0	.|.	316;316;316|.	Q9H6X2;Q9H6X2-2;Q9H6X2-4|.	ANTR1_HUMAN;.;.|.	R|A	316|148	ENSP00000301945:H316R;ENSP00000387058:H316R;ENSP00000386494:H316R|.	ENSP00000301945:H316R|.	H|T	+|+	2|1	0|0	ANTXR1|ANTXR1	69205275|69205275	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.810000|2.810000	0.47979|0.47979	1.024000|1.024000	0.39682|0.39682	0.533000|0.533000	0.62120|0.62120	CAC|ACT	ANTXR1	-	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel	ENSG00000169604		0.433	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	-	0	57	0	A	NM_032208		69351771	1	tier1	-	no_errors	ENST00000303714	ensembl	human	known	74_37	missense	18.31	58	13	SNP	1.000	G	G	69351771	A	G	69351771	3	3	66	1	0	0	0	0	1	0	0	0	711	159	6	4	993	4	ANTXR1	2	69351771	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	4669273	69351771	173847602	10	18051											
FIGLA	344018	genome.wustl.edu	37	chr2	71014835	71014835	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacctgtatatattcagtCgcacctttaaggatatcaac	14	12	6	9	1	2	1	2	0	0	1	3	2	2	2	2	1	2	2	2	1	7	7			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:71014835C>T	ENST00000332372.6	-	2	334	c.330G>A	c.(328-330)gcG>gcA	p.A110A		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	110	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						TATATTCAGTCGCACCTTTAA	0.398																																																	0													67	60	62					2																	71014835		1830	4090	5920	SO:0001819	synonymous_variant	0			BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"Basic helix-loop-helix proteins"	24669	protein-coding gene	gene with protein product	"factor in the germline alpha"	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.330G>A	2.37:g.71014835C>T				Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A110	ENST00000332372.6	37	c.330	CCDS46320.1	2																																																																																			FIGLA	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000183733		0.398	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGLA	HGNC	protein_coding	OTTHUMT00000331214.1	-	0	49	0	C	NM_001004311		71014835	-1	tier1	-	no_errors	ENST00000332372	ensembl	human	known	74_37	silent	11.67	53	7	SNP	0.646	T	T	71014835	C	T	71014835	2	4	66	1	0	0	0	0	0	0	0	1	5912	871	31	1		1	FIGLA	2	71014835	Silent	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	1663064	71014835	172184538	11	18052											
ZAP70	7535	genome.wustl.edu	37	chr2	98349436	98349436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcagccaagacaaggcGggcaagtactgcattcccga	12	6	10	13	2	2	1	2	0	0	1	3	2	3	1	2	2	3	3	2	2	4	2	rs202191985		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:98349436G>A	ENST00000264972.5	+	5	869	c.654G>A	c.(652-654)gcG>gcA	p.A218A	ZAP70_ENST00000442208.1_Silent_p.A92A|ZAP70_ENST00000451498.2_5'Flank|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	218	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AAGACAAGGCGGGCAAGTACT	0.612																																																	0													104	81	89					2																	98349436		2203	4300	6503	SO:0001819	synonymous_variant	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"SH2 domain containing"	12858	protein-coding gene	gene with protein product		176947	"zeta-chain (TCR) associated protein kinase (70 kD)"	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.654G>A	2.37:g.98349436G>A			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A218	ENST00000264972.5	37	c.654	CCDS33254.1	2																																																																																			ZAP70	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2	ENSG00000115085		0.612	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	-	0	74	0	G			98349436	1	tier1	rs202191985	no_errors	ENST00000264972	ensembl	human	known	74_37	silent	21.78	78	22	SNP	0.017	A	A	98349436	G	A	98349436	2	1	66	1	0	0	0	0	0	0	0	1	17563	1103	39	1		1	ZAP70	2	98349436	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	27334601	98349436	144849937	12	18053											
R3HDM1	23518	genome.wustl.edu	37	chr2	136393551	136393551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagagataactctagctttGacaaagatgataaccaggta	17	9	9	6	0	1	5	0	2	1	3	1	6	1	5	1	1	3	2	1	1	5	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:136393551G>C	ENST00000264160.4	+	10	1160	c.790G>C	c.(790-792)Gac>Cac	p.D264H	R3HDM1_ENST00000409606.1_Missense_Mutation_p.D264H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.D208H|R3HDM1_ENST00000409478.1_Missense_Mutation_p.D220H|R3HDM1_ENST00000329971.3_Missense_Mutation_p.D220H	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	264	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.						poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCTAGCTTTGACAAAGATGA	0.313																																																	0													91	103	99					2																	136393551		2203	4299	6502	SO:0001583	missense	0			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.790G>C	2.37:g.136393551G>C	ENSP00000264160:p.Asp264His		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.D264H	ENST00000264160.4	37	c.790	CCDS2177.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.627625|4.627625	0.87560|0.87560	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000456040	T;T;T;T;T|.	0.44083|.	0.93;0.93;0.93;0.93;0.93|.	5.31|5.31	5.31|5.31	0.75309|0.75309	SUZ domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78052|0.78052	0.4223|0.4223	M|M	0.77103|0.77103	2.36|2.36	0.54753|0.54753	D|D	0.999985|0.999985	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.944;0.999;0.999;0.999|.	T|T	0.77734|0.77734	-0.2477|-0.2477	10|5	0.62326|.	D|.	0.03|.	-11.5931|-11.5931	19.3411|19.3411	0.94342|0.94342	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	220;264;208;264|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	H|F	220;220;264;220;208;264|246	ENSP00000386457:D220H;ENSP00000264160:D264H;ENSP00000331396:D220H;ENSP00000386877:D208H;ENSP00000387010:D264H|.	ENSP00000264160:D264H|.	D|L	+|+	1|3	0|2	R3HDM1|R3HDM1	136110021|136110021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.813000|9.813000	0.99286|0.99286	2.631000|2.631000	0.89168|0.89168	0.655000|0.655000	0.94253|0.94253	GAC|TTG	R3HDM1	-	NULL	ENSG00000048991		0.313	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	-	0	49	0	G	NM_015361		136393551	1	tier1	-	no_errors	ENST00000264160	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	C	C	136393551	G	C	136393551	3	2	66	1	0	0	0	0	1	0	0	0	12932	1290	45	5	820	5	R3HDM1	2	136393551	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	38044115	136393551	106805822	13	18054											
SCN2A	6326	genome.wustl.edu	37	chr2	166167085	166167085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcatatttaactgggAtgaatatattgaggataaaa	17	12	10	2	0	0	3	0	3	0	0	0	5	0	5	0	2	2	1	0	2	7	7			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:166167085A>T	ENST00000375437.2	+	7	1240	c.950A>T	c.(949-951)gAt>gTt	p.D317V	SCN2A_ENST00000375427.2_Missense_Mutation_p.D317V|SCN2A_ENST00000283256.6_Missense_Mutation_p.D317V|SCN2A_ENST00000357398.3_Missense_Mutation_p.D317V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	317					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTAACTGGGATGAATATATT	0.259																																																	0													57	58	58					2																	166167085		2198	4295	6493	SO:0001583	missense	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.950A>T	2.37:g.166167085A>T	ENSP00000364586:p.Asp317Val		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D317V	ENST00000375437.2	37	c.950	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	A	9.447	1.089591	0.20390	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96522	-4.04;-3.97;-3.97;-3.97;-3.97	5.29	5.29	0.74685	Ion transport (1);	.	.	.	.	D	0.92502	0.7619	N	0.25957	0.775	0.50171	D	0.999852	B;B	0.12630	0.0;0.006	B;B	0.18561	0.001;0.022	D	0.89619	0.3847	9	0.72032	D	0.01	.	12.0998	0.53776	0.8566:0.1434:0.0:0.0	.	317;317	Q99250-2;Q99250	.;SCN2A_HUMAN	V	317	ENSP00000406454:D317V;ENSP00000364586:D317V;ENSP00000349973:D317V;ENSP00000283256:D317V;ENSP00000364576:D317V	ENSP00000283256:D317V	D	+	2	0	SCN2A	165875331	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.461000	0.45040	2.128000	0.65567	0.460000	0.39030	GAT	SCN2A	-	pfam_Ion_trans_dom	ENSG00000136531		0.259	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2		0	57	0	A	NM_021007		166167085	1			no_errors	ENST00000283256	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	166167085	A	T	166167085	3	4	66	1	0	0	0	0	1	0	0	0	13961	333	12	5	1068	5	SCN2A	2	166167085	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	29773534	166167085	77032288	14	18055											
SCG2	7857	genome.wustl.edu	37	chr2	224463860	224463860	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcaggactgggaaacttttgGacattttccaacctgaggtc	10	12	10	9	0	1	1	1	1	0	0	3	4	2	4	2	4	2	0	2	4	2	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:224463860G>C	ENST00000305409.2	-	2	373	c.141C>G	c.(139-141)gtC>gtG	p.V47V		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAAACTTTTGGACATTTTCCA	0.438																																																	0													98	104	102					2																	224463860		2201	4300	6501	SO:0001819	synonymous_variant	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.141C>G	2.37:g.224463860G>C			A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	pfam_Granin	p.V47	ENST00000305409.2	37	c.141	CCDS2457.1	2																																																																																			SCG2	-	pfam_Granin	ENSG00000171951		0.438	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0	37	0	G	NM_003469		224463860	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.381	C	C	224463860	G	C	224463860	2	2	66	1	0	0	0	0	0	0	0	1	13936	1161	41	5		5	SCG2	2	224463860	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	58296775	224463860	18735513	15	18056											
TM4SF20	79853	genome.wustl.edu	37	chr2	228243873	228243873	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttttgagaaaattggtCttcctcaactaagctgacaa	12	12	10	7	0	2	2	1	2	1	1	3	3	3	2	1	3	2	2	1	3	5	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr2:228243873C>A	ENST00000304568.3	-	1	149	c.112G>T	c.(112-114)Gac>Tac	p.D38Y		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GAAAATTGGTCTTCCTCAACT	0.438																																																	0													124	123	123					2																	228243873		2203	4300	6503	SO:0001583	missense	0			AK026453	CCDS2466.1	2q36.3	2008-02-05			ENSG00000168955	ENSG00000168955			26230	protein-coding gene	gene with protein product		615404				12975309	Standard	NM_024795		Approved	FLJ22800, TCCE518	uc002vpb.2	Q53R12	OTTHUMG00000133187	ENST00000304568.3:c.112G>T	2.37:g.228243873C>A	ENSP00000303028:p.Asp38Tyr		B2RP42|Q5U609|Q6UWS1|Q9H5X9	Missense_Mutation	SNP	pfam_L6_membrane	p.D38Y	ENST00000304568.3	37	c.112	CCDS2466.1	2	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901248	0.52227	.	.	ENSG00000168955	ENST00000304568	T	0.32988	1.43	5.77	3.96	0.45880	.	0.760060	0.12290	N	0.482052	T	0.47875	0.1469	L	0.57536	1.79	0.09310	N	1	D	0.61080	0.989	D	0.63113	0.911	T	0.27123	-1.0083	10	0.62326	D	0.03	-10.6889	10.6348	0.45558	0.0:0.8406:0.0:0.1594	.	38	Q53R12	T4S20_HUMAN	Y	38	ENSP00000303028:D38Y	ENSP00000303028:D38Y	D	-	1	0	TM4SF20	227952117	0.006000	0.16342	0.002000	0.10522	0.012000	0.07955	2.100000	0.41777	1.438000	0.47492	0.591000	0.81541	GAC	TM4SF20	-	pfam_L6_membrane	ENSG00000168955		0.438	TM4SF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF20	HGNC	protein_coding	OTTHUMT00000256896.2		0	31	0	C	NM_024795		228243873	-1			no_errors	ENST00000304568	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.003	A	A	228243873	C	A	228243873	3	1	66	1	0	0	0	0	1	0	0	0	16016	913	32	3	593	3	TM4SF20	2	228243873	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	3780013	228243873	14955500	16	18057											
TRANK1	9881	genome.wustl.edu	37	chr3	36931320	36931320	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtaatgccactactcacGcttaacgaggtatcctgggg	9	10	12	10	2	1	0	1	0	0	0	2	1	2	0	2	4	3	3	2	4	4	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:36931320G>A	ENST00000429976.2	-	7	1022	c.775C>T	c.(775-777)Cga>Tga	p.R259*	TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	259							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTACTCACGCTTAACGAGG	0.577																																																	0													78	75	76					3																	36931320		692	1591	2283	SO:0001630	splice_region_variant	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.775+1C>T	3.37:g.36931320G>A			Q8N8K0	Nonsense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.R259*	ENST00000429976.2	37	c.775	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447696	0.63178	.	.	ENSG00000168016	ENST00000429976	.	.	.	5.36	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.3347	0.49496	0.0:0.0:0.6701:0.3299	.	.	.	.	X	259	.	ENSP00000416168:R259X	R	-	1	2	TRANK1	36906324	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	2.634000	0.46528	1.378000	0.46305	0.655000	0.94253	CGA	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000168016		0.577	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	51	0	G	NM_014831	Nonsense_Mutation	36931320	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	nonsense	23.91	35	11	SNP	0.996	A	A	36931320	G	A	36931320	5	1	66	1	0	0	0	0	0	0	1	0	16502	1101	38	1	8070	1	TRANK1	3	36931320	Splice_Site	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		36931320	161091110	17	18058											
SCN5A	6331	genome.wustl.edu	37	chr3	38603969	38603969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcagcgtccgcagtgaCttgatggggcccatctcggc	6	7	14	14	4	1	2	0	2	1	0	3	2	2	2	2	3	1	3	2	3	0	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:38603969C>G	ENST00000333535.4	-	22	4049	c.3900G>C	c.(3898-3900)aaG>aaC	p.K1300N	SCN5A_ENST00000449557.2_Missense_Mutation_p.K1246N|SCN5A_ENST00000413689.1_Missense_Mutation_p.K1300N|SCN5A_ENST00000451551.2_Missense_Mutation_p.K1246N|SCN5A_ENST00000455624.2_Missense_Mutation_p.K1299N|SCN5A_ENST00000423572.2_Missense_Mutation_p.K1299N|SCN5A_ENST00000443581.1_Missense_Mutation_p.K1299N|SCN5A_ENST00000414099.2_Missense_Mutation_p.K1300N|SCN5A_ENST00000425664.1_Missense_Mutation_p.K1300N|SCN5A_ENST00000450102.2_Missense_Mutation_p.K1246N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1300					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCGCAGTGACTTGATGGGGC	0.607																																																	0													42	46	45					3																	38603969		2066	4219	6285	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3900G>C	3.37:g.38603969C>G	ENSP00000328968:p.Lys1300Asn		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.K1300N	ENST00000333535.4	37	c.3900	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	12.20	1.865463	0.32977	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4;-4.4	4.04	2.24	0.28232	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98353	0.9453	M	0.93898	3.47	0.43936	D	0.996593	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.996;0.997;1.0;0.999;0.991	D;D;D;D;D;D;P	0.87578	0.996;0.998;0.977;0.987;0.996;0.991;0.892	D	0.97079	0.9783	10	0.87932	D	0	.	5.7786	0.18294	0.0:0.5179:0.0:0.4821	.	1246;1299;1300;1300;1300;1299;1300	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	N	1300;1299;1300;1246;1299;1300;1300;1299;1246;1246	ENSP00000398962:K1300N;ENSP00000398266:K1299N;ENSP00000410257:K1300N;ENSP00000388797:K1246N;ENSP00000397915:K1299N;ENSP00000416634:K1300N;ENSP00000328968:K1300N;ENSP00000399524:K1299N;ENSP00000403355:K1246N;ENSP00000413996:K1246N	ENSP00000328968:K1300N	K	-	3	2	SCN5A	38578973	0.998000	0.40836	0.993000	0.49108	0.159000	0.22180	0.481000	0.22260	0.384000	0.24942	-0.150000	0.13652	AAG	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	62	0	C	NM_198056		38603969	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	12.07	51	7	SNP	1.000	G	G	38603969	C	G	38603969	3	3	66	1	0	0	0	0	1	0	0	0	13967	564	20	5	2178	5	SCN5A	3	38603969	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	1672649	38603969	159418461	18	18059											
COL7A1	1294	genome.wustl.edu	37	chr3	48606262	48606262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaacccggctgagccCttgtcaccaggctctccctt	5	9	9	18	1	2	1	1	1	1	0	3	1	2	1	5	3	2	3	5	3	1	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:48606262C>T	ENST00000328333.8	-	103	7820	c.7713G>A	c.(7711-7713)aaG>aaA	p.K2571K	COL7A1_ENST00000454817.1_Silent_p.K2539K	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2571	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCTGAGCCCTTGTCACCAG	0.647																																																	0													27	25	25					3																	48606262		2198	4294	6492	SO:0001819	synonymous_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7713G>A	3.37:g.48606262C>T			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.K2571	ENST00000328333.8	37	c.7713	CCDS2773.1	3																																																																																			COL7A1	-	pfam_Collagen	ENSG00000114270		0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0	124	0	C	NM_000094		48606262	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	17.54	94	20	SNP	0.997	T	T	48606262	C	T	48606262	2	4	66	1	0	0	0	0	0	0	0	1	3711	680	24	3		3	COL7A1	3	48606262	Silent	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	10002293	48606262	149416168	19	18060											
GLYCTK	132158	genome.wustl.edu	37	chr3	52326740	52326740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctgcagctggaggaGgctctggagaccatggcatg	9	6	15	11	0	1	2	0	0	1	2	1	5	1	4	3	5	2	4	3	5	0	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:52326740G>T	ENST00000436784.2	+	5	1230	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000471180.1_Intron|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000477382.1_3'UTR|GLYCTK_ENST00000473032.1_Intron|GLYCTK_ENST00000305690.8_Intron|GLYCTK_ENST00000461183.1_Intron|MIR135A1_ENST00000385191.1_RNA			Q8IVS8	GLCTK_HUMAN	glycerate kinase	390					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		AGCTGGAGGAGGCTCTGGAGA	0.662																																																	0													35	39	37					3																	52326740		2203	4300	6503	SO:0001583	missense	0				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1170G>T	3.37:g.52326740G>T	ENSP00000389175:p.Glu390Asp		Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Missense_Mutation	SNP	pfam_MOFRL	p.E390D	ENST00000436784.2	37	c.1170	CCDS2852.1	3	.	.	.	.	.	.	.	.	.	.	G	5.012	0.187936	0.09547	.	.	ENSG00000168237	ENST00000436784;ENST00000411757	T	0.56275	0.47	5.85	0.504	0.16946	.	0.277274	0.42053	N	0.000774	T	0.38957	0.1060	L	0.56769	1.78	0.45806	D	0.998686	B	0.14805	0.011	B	0.15484	0.013	T	0.10989	-1.0606	9	.	.	.	-11.5145	2.7415	0.05255	0.2693:0.1325:0.4915:0.1067	.	390	Q8IVS8	GLCTK_HUMAN	D	390;324	ENSP00000389175:E390D	.	E	+	3	2	GLYCTK	52301780	0.020000	0.18652	0.963000	0.40424	0.184000	0.23303	-0.100000	0.10990	0.260000	0.21731	-0.345000	0.07892	GAG	GLYCTK	-	NULL	ENSG00000168237		0.662	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYCTK	HGNC	protein_coding	OTTHUMT00000350835.1		0	81	0	G	NM_145262		52326740	1			no_errors	ENST00000436784	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.416	T	T	52326740	G	T	52326740	3	4	66	1	0	0	0	0	1	0	0	0	6508	991	35	3	1184	3	GLYCTK	3	52326740	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	3720478	52326740	145695690	20	18061											
WDR52	55779	genome.wustl.edu	37	chr3	113125833	113125833	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgattgttttgccaaatcGacctagtgatccctgcagct	9	13	9	10	1	0	2	0	2	0	0	2	3	1	2	3	0	3	3	3	0	2	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:113125833G>A	ENST00000295868.2	-	8	1108	c.946C>T	c.(946-948)Cga>Tga	p.R316*	WDR52_ENST00000393845.2_Nonsense_Mutation_p.R316*|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTGCCAAATCGACCTAGTGAT	0.393																																																	0													155	138	144					3																	113125833		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000295868.2:c.946C>T	3.37:g.113125833G>A	ENSP00000295868:p.Arg316*			Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R316*	ENST00000295868.2	37	c.946	CCDS2972.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.476481	0.96291	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	.	.	.	4.39	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6718	0.40017	0.0:0.0:0.5915:0.4085	.	.	.	.	X	316	.	ENSP00000295868:R316X	R	-	1	2	WDR52	114608523	1.000000	0.71417	0.994000	0.49952	0.859000	0.49053	5.156000	0.64905	2.291000	0.77112	0.491000	0.48974	CGA	WDR52	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000206530		0.393	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR52	HGNC	protein_coding	OTTHUMT00000354128.3	-	0	76	0	G			113125833	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	nonsense	10.47	77	9	SNP	1.000	A	A	113125833	G	A	113125833	4	1	66	1	0	0	0	0	0	1	0	0	17353	1066	37	1	4745	1	WDR52	3	113125833	Nonsense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	60799093	113125833	84896597	21	18062											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119120938	119120938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccggagagcgagcaaacaGccccaaagatgttgggtatg	13	6	13	9	2	0	2	0	0	0	2	1	4	1	2	3	2	4	3	3	2	3	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:119120938G>A	ENST00000264245.4	+	10	1871	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	447					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CGAGCAAACAGCCCCAAAGAT	0.597																																					Pancreas(7;176 297 5394 51128 51241)												0													77	89	85					3																	119120938		2013	4164	6177	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1339G>A	3.37:g.119120938G>A	ENSP00000264245:p.Ala447Thr		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A447T	ENST00000264245.4	37	c.1339	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587589	0.66105	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.07800	3.16	5.26	4.32	0.51571	.	0.076888	0.52532	D	0.000076	T	0.09423	0.0232	L	0.57536	1.79	0.38315	D	0.943353	P	0.35077	0.483	B	0.30943	0.122	T	0.05068	-1.0908	10	0.51188	T	0.08	.	10.859	0.46815	0.0:0.0:0.6797:0.3203	.	447	Q2M1Z3	RHG31_HUMAN	T	447	ENSP00000264245:A447T	ENSP00000264245:A447T	A	+	1	0	ARHGAP31	120603628	1.000000	0.71417	0.980000	0.43619	0.901000	0.52897	5.187000	0.65087	2.733000	0.93635	0.655000	0.94253	GCC	ARHGAP31	-	NULL	ENSG00000031081		0.597	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2		0	32	0	G			119120938	1			no_errors	ENST00000264245	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.999	A	A	119120938	G	A	119120938	3	1	66	1	0	0	0	0	1	0	0	0	880	971	34	3	1377	3	ARHGAP31	3	119120938	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	5995105	119120938	78901492	22	18063											
EPHB1	2047	genome.wustl.edu	37	chr3	134881021	134881021	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccagactctgactgaCggtaagggtcggggagggca	8	8	16	9	2	1	3	0	2	1	1	3	4	2	4	1	5	1	3	1	5	1	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:134881021C>T	ENST00000398015.3	+	7	1954	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	EPHB1_ENST00000493838.1_Splice_Site_p.D89D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	528	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCTGACTGACGGTAAGGGTC	0.562																																																	0													79	84	82					3																	134881021		2145	4267	6412	SO:0001630	splice_region_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1585+1C>T	3.37:g.134881021C>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.D528	ENST00000398015.3	37	c.1584	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3	ENSG00000154928		0.562	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	40	0	C	NM_004441	Silent	134881021	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	18.60	35	8	SNP	0.674	T	T	134881021	C	T	134881021	5	4	66	1	0	0	0	0	0	0	1	0	5190	550	19	1	1610	1	EPHB1	3	134881021	Splice_Site	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	15760083	134881021	63141409	23	18064											
MFN1	55669	genome.wustl.edu	37	chr3	179069813	179069813	+	Missense_Mutation	SNP	T	T	A																															ggagacacatgaaggtggcaTtttttggcaggtaattattt																										TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:179069813T>A	ENST00000471841.1	+	3	364	c.238T>A	c.(238-240)Ttt>Att	p.F80I	MFN1_ENST00000263969.5_Missense_Mutation_p.F80I|MFN1_ENST00000280653.7_Missense_Mutation_p.F80I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	80	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAAGGTGGCATTTTTTGGCAG	0.388																																																	0													143	149	147					3																	179069813		2203	4300	6503	SO:0001583	missense	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.238T>A	3.37:g.179069813T>A	ENSP00000420617:p.Phe80Ile		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.F80I	ENST00000471841.1	37	c.238	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839835	0.71488	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.95395	0.8505	L	0.52905	1.665	0.80722	D	1	D;P	0.58620	0.983;0.92	P;P	0.60415	0.874;0.552	D	0.94252	0.7494	10	0.29301	T	0.29	-11.4806	15.2812	0.73787	0.0:0.0:0.0:1.0	.	108;80	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	I	80	ENSP00000420617:F80I;ENSP00000280653:F80I;ENSP00000419134:F80I;ENSP00000263969:F80I	ENSP00000263969:F80I	F	+	1	0	MFN1	180552507	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.612000	0.82975	2.078000	0.62432	0.383000	0.25322	TTT	MFN1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000171109		0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0	79	0	T	NM_017927		179069813	1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	14.29	60	10	SNP	0.999	A	A	179069813	T	A	179069813	3	1	66	1	0	0	0	0	1	0	0	0	9561	1493	52	5	244	5	MFN1	3	179069813	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	44188792	179069813	18952617	24	18065	73	2									
MFN1	55669	genome.wustl.edu	37	chr3	179069816	179069816	+	Missense_Mutation	SNP	T	T	G																															gacacatgaaggtggcatttTttggcaggtaattatttatt																										TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:179069816T>G	ENST00000471841.1	+	3	367	c.241T>G	c.(241-243)Ttt>Gtt	p.F81V	MFN1_ENST00000263969.5_Missense_Mutation_p.F81V|MFN1_ENST00000280653.7_Missense_Mutation_p.F81V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	81	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GGTGGCATTTTTTGGCAGGTA	0.388																																																	0													137	144	141					3																	179069816		2203	4300	6503	SO:0001583	missense	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.241T>G	3.37:g.179069816T>G	ENSP00000420617:p.Phe81Val		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.F81V	ENST00000471841.1	37	c.241	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	T	17.95	3.513841	0.64522	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81	5.16	5.16	0.70880	Dynamin, GTPase domain (1);	0.048200	0.85682	D	0.000000	D	0.96049	0.8713	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95039	0.8176	10	0.28530	T	0.3	-18.0397	15.2812	0.73787	0.0:0.0:0.0:1.0	.	109;81	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	V	81	ENSP00000420617:F81V;ENSP00000280653:F81V;ENSP00000419134:F81V;ENSP00000263969:F81V	ENSP00000263969:F81V	F	+	1	0	MFN1	180552510	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.612000	0.82975	2.078000	0.62432	0.383000	0.25322	TTT	MFN1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000171109		0.388	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0	79	0	T	NM_017927		179069816	1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	13.24	59	9	SNP	1.000	G	G	179069816	T	G	179069816	3	3	66	1	0	0	0	0	1	0	0	0	9561	1841	64	4	247	4	MFN1	3	179069816	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	3	179069816	18952614	25	18066	73	2									
MFN1	55669	genome.wustl.edu	37	chr3	179107819	179107819	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccacttttgctcgcctGtgccaacaagttgatattac	9	13	7	12	1	0	1	0	1	0	0	1	1	0	1	3	0	5	3	3	0	5	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:179107819G>T	ENST00000471841.1	+	17	2166	c.2040G>T	c.(2038-2040)ctG>ctT	p.L680L	MFN1_ENST00000263969.5_Silent_p.L680L|MFN1_ENST00000280653.7_Silent_p.L569L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	680					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTGCTCGCCTGTGCCAACAAG	0.308																																																	0													61	66	64					3																	179107819		2203	4299	6502	SO:0001819	synonymous_variant	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2040G>T	3.37:g.179107819G>T			B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.L680	ENST00000471841.1	37	c.2040	CCDS3228.1	3																																																																																			MFN1	-	pfam_Fzo/mitofusin_HR2	ENSG00000171109		0.308	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0	29	0	G	NM_017927		179107819	1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	silent	16.39	51	10	SNP	1.000	T	T	179107819	G	T	179107819	2	4	66	1	0	0	0	0	0	0	0	1	9561	1364	48	3		3	MFN1	3	179107819	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	38003	179107819	18914611	26	18067											
ST6GAL1	6480	genome.wustl.edu	37	chr3	186769080	186769080	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatggggcacccacagcCaacttccaacaagatgtggg	12	8	10	11	0	0	1	0	0	0	1	1	1	1	1	3	3	3	1	3	3	4	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:186769080C>A	ENST00000169298.3	+	5	1325	c.651C>A	c.(649-651)gcC>gcA	p.A217A	ST6GAL1_ENST00000448044.1_Silent_p.A217A|ST6GAL1_ENST00000457772.2_5'UTR	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	217					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CACCCACAGCCAACTTCCAAC	0.438																																																	0													141	124	130					3																	186769080		2203	4300	6503	SO:0001819	synonymous_variant	0			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"ST6Gal I"	109675	"sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.651C>A	3.37:g.186769080C>A			A8KA14|B2R513|D3DNV3	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A217	ENST00000169298.3	37	c.651	CCDS3285.1	3																																																																																			ST6GAL1	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000073849		0.438	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GAL1	HGNC	protein_coding	OTTHUMT00000344399.1	-	0	83	0	C	NM_173216		186769080	1	tier1	-	no_errors	ENST00000169298	ensembl	human	known	74_37	silent	7.69	72	6	SNP	0.423	A	A	186769080	C	A	186769080	2	1	66	1	0	0	0	0	0	0	0	1	15268	581	21	3		3	ST6GAL1	3	186769080	Silent	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	7661261	186769080	11253350	27	18068											
MUC20	200958	genome.wustl.edu	37	chr3	195453002	195453002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgccacagaaagagaaGtgacagcacccggggccacg	14	1	13	13	3	0	3	0	1	0	2	0	4	0	3	3	2	2	1	3	2	2	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr3:195453002G>T	ENST00000447234.2	+	2	1654	c.1528G>T	c.(1528-1530)Gtg>Ttg	p.V510L	MUC20_ENST00000320736.6_Missense_Mutation_p.V339L|MUC20_ENST00000445522.2_Missense_Mutation_p.V475L|MUC20_ENST00000436408.1_Missense_Mutation_p.V510L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	510	Involved in oligomerization.		Missing. {ECO:0000269|PubMed:14702039}.		activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AGAAAGAGAAGTGACAGCACC	0.592																																																	0													59	53	55					3																	195453002		2160	4247	6407	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"Mucins"	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1528G>T	3.37:g.195453002G>T	ENSP00000414350:p.Val510Leu		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.V510L	ENST00000447234.2	37	c.1528		3	.	.	.	.	.	.	.	.	.	.	G	8.776	0.927149	0.18056	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	T;T;T;T	0.16743	2.75;2.78;2.91;2.32	3.86	-1.32	0.09201	.	1.458410	0.04410	N	0.365916	T	0.08133	0.0203	N	0.04508	-0.205	0.09310	N	1	B	0.19331	0.035	B	0.14578	0.011	T	0.34054	-0.9844	10	0.30078	T	0.28	4.4	7.2755	0.26281	0.5217:0.0:0.4783:0.0	.	339	E9PH32	.	L	510;339;510;475	ENSP00000414350:V510L;ENSP00000325431:V339L;ENSP00000396774:V510L;ENSP00000405629:V475L	ENSP00000325431:V339L	V	+	1	0	MUC20	196938673	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.060000	0.11712	-0.334000	0.08463	-0.492000	0.04666	GTG	MUC20	-	NULL	ENSG00000176945		0.592	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	-	0	122	0	G	NM_152673		195453002	1	tier1	-	no_errors	ENST00000447234	ensembl	human	known	74_37	missense	6.16	137	9	SNP	0.000	T	T	195453002	G	T	195453002	3	4	66	1	0	0	0	0	1	0	0	0	10014	1029	36	3	1025	3	MUC20	3	195453002	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	8683922	195453002	2569428	28	18069											
DRD5	1816	genome.wustl.edu	37	chr4	9784946	9784946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaacgacgaggaggaGggtcctttcgatcgcatgtt	9	9	15	8	4	0	0	0	0	0	0	3	6	1	3	1	4	1	2	1	4	1	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:9784946G>A	ENST00000304374.2	+	1	1689	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	431					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACGAGGAGGAGGGTCCTTTCG	0.567																																																	0													83	73	77					4																	9784946		2203	4300	6503	SO:0001819	synonymous_variant	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"GPCR / Class A : Dopamine receptors"	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1293G>A	4.37:g.9784946G>A			B2R9S3|Q8NEQ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt	p.E431	ENST00000304374.2	37	c.1293	CCDS3405.1	4																																																																																			DRD5	-	NULL	ENSG00000169676		0.567	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	-	0	54	0	G			9784946	1	tier1	-	no_errors	ENST00000304374	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.063	A	A	9784946	G	A	9784946	2	1	66	1	0	0	0	0	0	0	0	1	4774	991	35	3		3	DRD5	4	9784946	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		9784946	181369330	29	18070											
FRAS1	80144	genome.wustl.edu	37	chr4	79345576	79345576	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaaattccacttcacaggTaaagattcatctaaatttta	15	14	5	7	0	3	2	2	1	1	1	4	2	4	2	1	1	0	1	1	1	6	7			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:79345576T>C	ENST00000325942.6	+	35	5151		c.e35+2		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTTCACAGGTAAAGATTCAT	0.308																																																	0													77	63	67					4																	79345576		1762	4016	5778	SO:0001630	splice_region_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4711+2T>C	4.37:g.79345576T>C			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	-	e35+2	ENST00000325942.6	37	c.4711+2	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	T	19.39	3.819160	0.71028	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000510944	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79564600	1.000000	0.71417	0.947000	0.38551	0.723000	0.41478	6.977000	0.76141	2.326000	0.78906	0.533000	0.62120	.	FRAS1	-	-	ENSG00000138759		0.308	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	-	0	34	0	T		Intron	79345576	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	splice_site	25.00	27	9	SNP	0.998	C	C	79345576	T	C	79345576	5	2	66	1	0	0	0	0	0	0	1	0	6066	1652	57	4	4851	4	FRAS1	4	79345576	Splice_Site	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	69560630	79345576	111808700	30	18071											
FAT4	79633	genome.wustl.edu	37	chr4	126408710	126408710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggccttgatgtgcttactAtatcacttggaggaattcca	9	14	10	8	0	1	1	1	1	0	0	2	3	2	3	2	3	2	1	2	3	4	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr4:126408710A>G	ENST00000394329.3	+	16	13040	c.13027A>G	c.(13027-13029)Ata>Gta	p.I4343V	FAT4_ENST00000335110.5_Missense_Mutation_p.I2584V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4343	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I4343V(1)|p.I4286V(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTGCTTACTATATCACTTGG	0.403																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											72	70	70					4																	126408710		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13027A>G	4.37:g.126408710A>G	ENSP00000377862:p.Ile4343Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I4343V	ENST00000394329.3	37	c.13027	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	8.396	0.840846	0.16891	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.77489	-1.1;-1.1	5.41	2.84	0.33178	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.181173	0.25037	U	0.033637	T	0.57858	0.2082	N	0.17345	0.48	0.26931	N	0.96647	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.42531	-0.9446	10	0.25106	T	0.35	.	7.2035	0.25895	0.7772:0.1463:0.0765:0.0	.	2584;4343;4343	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	4343;2584	ENSP00000377862:I4343V;ENSP00000335169:I2584V	ENSP00000335169:I2584V	I	+	1	0	FAT4	126628160	0.759000	0.28416	0.998000	0.56505	0.458000	0.32498	1.369000	0.34227	0.898000	0.36418	-0.256000	0.11100	ATA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	20	0	A	NM_024582		126408710	1			no_errors	ENST00000394329	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.837	G	G	126408710	A	G	126408710	3	3	66	1	0	0	0	0	1	0	0	0	5714	449	16	4	13089	4	FAT4	4	126408710	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	47063134	126408710	64745566	31	18072											
ADCY2	108	genome.wustl.edu	37	chr5	7520985	7520985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcctgtctgcaacaccGggaggcaaggagcacctggt	8	7	14	12	1	2	0	0	0	2	0	2	2	2	2	3	4	4	3	3	4	2	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:7520985G>A	ENST00000338316.4	+	3	632	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	181					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGCAACACCGGGAGGCAAGG	0.612																																																	0													166	112	131					5																	7520985		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.543G>A	5.37:g.7520985G>A			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P181	ENST00000338316.4	37	c.543	CCDS3872.2	5																																																																																			ADCY2	-	NULL	ENSG00000078295		0.612	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0	79	0	G	NM_020546		7520985	1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	silent	12.90	81	12	SNP	0.000	A	A	7520985	G	A	7520985	2	1	66	1	0	0	0	0	0	0	0	1	294	1103	39	1		1	ADCY2	5	7520985	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		7520985	173394275	32	18073											
SLC1A3	6507	genome.wustl.edu	37	chr5	36686224	36686224	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggagctgggattgtGgagcacttgtcacgacatga	8	10	14	9	1	1	1	1	1	0	0	2	5	2	4	1	3	2	2	1	3	0	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:36686224G>T	ENST00000265113.4	+	10	1958	c.1482G>T	c.(1480-1482)gtG>gtT	p.V494V	SLC1A3_ENST00000381918.3_Silent_p.V449V|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	494					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGGATTGTGGAGCACTTGT	0.517																																																	0													120	120	120					5																	36686224		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"Solute carriers"	10941	protein-coding gene	gene with protein product	"glutamate transporter variant EAAT1ex9skip"	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.1482G>T	5.37:g.36686224G>T			B2R5T3|Q4JCQ8	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V494	ENST00000265113.4	37	c.1482	CCDS3919.1	5																																																																																			SLC1A3	-	pfam_Na-dicarboxylate_symporter	ENSG00000079215		0.517	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A3	HGNC	protein_coding	OTTHUMT00000207579.2	-	0	46	0	G	NM_004172		36686224	1	tier1	-	no_errors	ENST00000265113	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.001	T	T	36686224	G	T	36686224	2	4	66	1	0	0	0	0	0	0	0	1	14478	1335	47	3		3	SLC1A3	5	36686224	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	29165239	36686224	144229036	33	18074											
LIFR	3977	genome.wustl.edu	37	chr5	38502838	38502838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaagtatatagagtgtatgGatttaacttgtccagagcaa	16	12	9	4	0	0	2	0	0	0	2	1	3	1	3	1	1	2	3	1	1	8	7			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:38502838G>C	ENST00000263409.4	-	11	1663	c.1501C>G	c.(1501-1503)Cca>Gca	p.P501A	LIFR_ENST00000453190.2_Missense_Mutation_p.P501A|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	501	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGAGTGTATGGATTTAACTTG	0.313			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													80	78	79					5																	38502838		2201	4299	6500	SO:0001583	missense	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"CD molecules", "Fibronectin type III domain containing"	6597	protein-coding gene	gene with protein product		151443	"leukemia inhibitory factor receptor"			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1501C>G	5.37:g.38502838G>C	ENSP00000263409:p.Pro501Ala		Q6LCD9	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P501A	ENST00000263409.4	37	c.1501	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.972810	0.74246	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.66638	-0.22;-0.22	5.68	5.68	0.88126	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.85041	2.73	0.53005	D	0.999965	D	0.76494	0.999	D	0.74023	0.982	D	0.83695	0.0179	10	0.45353	T	0.12	-16.9189	16.5133	0.84292	0.0:0.0:1.0:0.0	.	501	P42702	LIFR_HUMAN	A	501	ENSP00000263409:P501A;ENSP00000398368:P501A	ENSP00000263409:P501A	P	-	1	0	LIFR	38538595	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.457000	0.66672	2.678000	0.91216	0.655000	0.94253	CCA	LIFR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113594		0.313	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1		0	115	0	G	NM_002310		38502838	-1			no_errors	ENST00000263409	ensembl	human	known	74_37	missense	6.45	87	6	SNP	0.997	C	C	38502838	G	C	38502838	3	2	66	1	0	0	0	0	1	0	0	0	8809	1174	41	5	1832	5	LIFR	5	38502838	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	1816614	38502838	142412422	34	18075											
NLN	57486	genome.wustl.edu	37	chr5	65084238	65084238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgtttggaacaagagtGttacactttatactgtgaag	12	14	9	6	0	1	2	1	1	0	1	1	3	1	3	0	1	3	2	0	1	6	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:65084238G>T	ENST00000380985.5	+	8	1430	c.1252G>T	c.(1252-1254)Gtt>Ttt	p.V418F	NLN_ENST00000502464.1_Missense_Mutation_p.V314F	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	418						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GAACAAGAGTGTTACACTTTA	0.438																																																	0													188	187	188					5																	65084238		2203	4300	6503	SO:0001583	missense	0			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"angiotensin binding protein"	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1252G>T	5.37:g.65084238G>T	ENSP00000370372:p.Val418Phe		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.V418F	ENST00000380985.5	37	c.1252	CCDS3989.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.142365|5.142365	0.94560|0.94560	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000509935|ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299	.|T;T;T	.|0.39592	.|1.07;1.07;1.07	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Metallopeptidase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78704|0.78704	0.4325|0.4325	H|H	0.97023|0.97023	3.925|3.925	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.984;0.984;1.0	.|P;P;D	.|0.97110	.|0.901;0.901;1.0	D|D	0.84701|0.84701	0.0728|0.0728	5|10	.|0.87932	.|D	.|0	-20.402|-20.402	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|113;418;418	.|Q96K48;Q9BYT8;Q9BQD0	.|.;NEUL_HUMAN;.	F|F	14|418;314;418;146	.|ENSP00000370372:V418F;ENSP00000423214:V314F;ENSP00000427417:V146F	.|ENSP00000339283:V418F	C|V	+|+	2|1	0|0	NLN|NLN	65119994|65119994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	7.660000|7.660000	0.83776|0.83776	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	TGT|GTT	NLN	-	pfam_Pept_M3A_M3B	ENSG00000123213		0.438	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1		0	53	0	G			65084238	1			no_errors	ENST00000380985	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	65084238	G	T	65084238	3	4	66	1	0	0	0	0	1	0	0	0	10506	1377	48	3	1282	3	NLN	5	65084238	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	26581400	65084238	115831022	35	18076											
OCLN	100506658	genome.wustl.edu	37	chr5	68809798	68809798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccattgtactggggttCatgattattgtggcttttgc	6	18	11	6	0	1	1	1	1	0	0	1	1	1	1	1	3	3	3	1	3	2	8			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:68809798C>A	ENST00000355237.2	+	4	1189	c.753C>A	c.(751-753)ttC>ttA	p.F251L	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_De_novo_Start_InFrame|OCLN_ENST00000396442.2_Missense_Mutation_p.F251L|OCLN_ENST00000380766.2_Intron	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	251	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TACTGGGGTTCATGATTATTG	0.338																																																	0													123	111	115					5																	68809798		2203	4300	6503	SO:0001583	missense	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"tight junction protein occludin TM4 minus", "phosphatase 1, regulatory subunit 115"	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.753C>A	5.37:g.68809798C>A	ENSP00000347379:p.Phe251Leu		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin	p.F251L	ENST00000355237.2	37	c.753	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507387	0.64410	.	.	ENSG00000197822	ENST00000355237;ENST00000396442	T;T	0.35789	1.29;1.29	5.84	4.05	0.47172	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52933	0.1765	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	D	0.63381	0.914	T	0.53892	-0.8374	10	0.45353	T	0.12	-41.6089	12.1978	0.54307	0.0:0.8564:0.0:0.1436	.	251	Q16625	OCLN_HUMAN	L	251	ENSP00000347379:F251L;ENSP00000379719:F251L	ENSP00000347379:F251L	F	+	3	2	OCLN	68845554	0.575000	0.26692	0.915000	0.36163	0.648000	0.38561	1.151000	0.31651	1.473000	0.48159	0.591000	0.81541	TTC	OCLN	-	pfam_Marvel,pirsf_Occludin	ENSG00000197822		0.338	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0	48	0	C	NM_002538		68809798	1	tier1	-	no_errors	ENST00000355237	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.937	A	A	68809798	C	A	68809798	3	1	66	1	0	0	0	0	1	0	0	0	10859	825	29	3	763	3	OCLN	5	68809798	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	3725560	68809798	112105462	36	18077											
ACOT12	134526	genome.wustl.edu	37	chr5	80628300	80628300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcatatactcacccatCtttgaggggttttcttcgtg	7	15	9	10	1	3	1	1	1	2	0	4	2	3	1	1	2	2	2	1	2	2	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:80628300C>A	ENST00000307624.3	-	13	1415	c.1387G>T	c.(1387-1389)Gat>Tat	p.D463Y	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	463	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ACTCACCCATCTTTGAGGGGT	0.353																																																	0													140	120	127					5																	80628300		2203	4300	6503	SO:0001583	missense	0			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1387G>T	5.37:g.80628300C>A	ENSP00000303246:p.Asp463Tyr		B3KVK9|Q5FWE9	Missense_Mutation	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.D463Y	ENST00000307624.3	37	c.1387	CCDS4055.1	5	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472862	0.26423	.	.	ENSG00000172497	ENST00000307624	T	0.78595	-1.19	5.55	3.75	0.43078	Lipid-binding START (2);START-like domain (1);	0.638657	0.15870	N	0.240575	D	0.84624	0.5513	M	0.76574	2.34	0.22629	N	0.998915	D	0.53619	0.961	D	0.64877	0.93	T	0.74003	-0.3804	10	0.66056	D	0.02	.	7.0899	0.25277	0.1707:0.742:0.0:0.0872	.	463	Q8WYK0	ACO12_HUMAN	Y	463	ENSP00000303246:D463Y	ENSP00000303246:D463Y	D	-	1	0	ACOT12	80664056	0.006000	0.16342	0.002000	0.10522	0.032000	0.12392	0.778000	0.26732	0.792000	0.33850	0.561000	0.74099	GAT	ACOT12	-	pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000172497		0.353	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1	-	0	34	0	C	NM_130767		80628300	-1	tier1	-	no_errors	ENST00000307624	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.029	A	A	80628300	C	A	80628300	3	1	66	1	0	0	0	0	1	0	0	0	150	913	32	3	292	3	ACOT12	5	80628300	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	11818502	80628300	100286960	37	18078											
ELL2	22936	genome.wustl.edu	37	chr5	95249513	95249513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttgataacttttgtgcttCggttgcgggattcctcctct	4	18	10	9	2	1	1	0	1	1	0	4	2	3	2	2	2	3	3	2	2	1	7			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:95249513C>T	ENST00000237853.4	-	4	792	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	148					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TTTTGTGCTTCGGTTGCGGGA	0.418																																																	0													191	191	191					5																	95249513		2203	4300	6503	SO:0001583	missense	0			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.443G>A	5.37:g.95249513C>T	ENSP00000237853:p.Arg148Gln		B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R148Q	ENST00000237853.4	37	c.443	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.474171	0.96291	.	.	ENSG00000118985	ENST00000237853	T	0.31247	1.5	5.49	5.49	0.81192	.	0.182978	0.49916	D	0.000137	T	0.56963	0.2021	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.58272	-0.7665	10	0.72032	D	0.01	-2.0343	19.3344	0.94309	0.0:1.0:0.0:0.0	.	148	O00472	ELL2_HUMAN	Q	148	ENSP00000237853:R148Q	ENSP00000237853:R148Q	R	-	2	0	ELL2	95275269	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	4.030000	0.57260	2.740000	0.93945	0.563000	0.77884	CGA	ELL2	-	pfam_RNA_pol_II_elong_fac_ELL	ENSG00000118985		0.418	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	-	0	93	0	C	NM_012081		95249513	-1	tier1	-	no_errors	ENST00000237853	ensembl	human	known	74_37	missense	16.16	83	16	SNP	1.000	T	T	95249513	C	T	95249513	3	4	66	1	0	0	0	0	1	0	0	0	5079	884	31	1	1515	1	ELL2	5	95249513	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	14621213	95249513	85665747	38	18079											
MCC	4163	genome.wustl.edu	37	chr5	112389471	112389471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgttttccagatccagcCtctggctgtctccccgaggc	4	11	10	16	2	2	1	0	0	2	1	5	2	4	1	5	2	2	2	5	2	0	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:112389471C>T	ENST00000302475.4	-	13	2392	c.1829G>A	c.(1828-1830)aGg>aAg	p.R610K	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.R547K|MCC_ENST00000408903.3_Missense_Mutation_p.R800K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	610					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGATCCAGCCTCTGGCTGTC	0.557																																																	0													80	75	77					5																	112389471		2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1829G>A	5.37:g.112389471C>T	ENSP00000305617:p.Arg610Lys		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.R610K	ENST00000302475.4	37	c.1829	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838806	0.32513	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.33865	2.55;2.56;1.39	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.34483	0.0899	N	0.04508	-0.205	0.53005	D	0.999962	P;P;P	0.47910	0.841;0.902;0.841	P;D;P	0.63033	0.745;0.91;0.745	T	0.16778	-1.0391	10	0.07990	T	0.79	-28.6418	18.7621	0.91856	0.0:1.0:0.0:0.0	.	610;800;610	B7Z6G0;P23508-2;P23508	.;.;CRCM_HUMAN	K	610;547;800	ENSP00000305617:R610K;ENSP00000421615:R547K;ENSP00000386227:R800K	ENSP00000305617:R610K	R	-	2	0	MCC	112417370	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	6.179000	0.71974	2.433000	0.82419	0.563000	0.77884	AGG	MCC	-	NULL	ENSG00000171444		0.557	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0	42	0	C	NM_001085377		112389471	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	112389471	C	T	112389471	3	4	66	1	0	0	0	0	1	0	0	0	9411	681	24	3	680	3	MCC	5	112389471	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	17139958	112389471	68525789	39	18080											
TCF7	6932	genome.wustl.edu	37	chr5	133473773	133473773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaatcagcccccccaCggtgtcccccaactctctct	8	7	6	20	1	3	0	1	0	2	0	5	0	4	0	6	2	2	0	6	2	3	0	rs561867522		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:133473773C>T	ENST00000321584.4	+	4	661	c.465C>T	c.(463-465)caC>caT	p.H155H	TCF7_ENST00000432532.2_Silent_p.H40H|TCF7_ENST00000520958.1_Silent_p.H40H|TCF7_ENST00000378560.4_Silent_p.H40H|TCF7_ENST00000342854.5_Silent_p.H155H|TCF7_ENST00000321603.6_Silent_p.H155H|TCF7_ENST00000395029.1_Silent_p.H155H|TCF7_ENST00000395023.1_Silent_p.H40H|TCF7_ENST00000378564.1_Silent_p.H155H|TCF7_ENST00000518915.1_Silent_p.H40H			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	155					alpha-beta T cell differentiation (GO:0046632)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cellular response to interleukin-4 (GO:0071353)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|generation of neurons (GO:0048699)|immune response (GO:0006955)|neural tube development (GO:0021915)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor V(D)J recombination (GO:0033153)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCCCCCCACGGTGTCCCCC	0.572													C|||	1	0.000199681	0	0	5008	,	,		16537	0		0	False		,,,				2504	0.001																0													117	113	114					5																	133473773		2203	4300	6503	SO:0001819	synonymous_variant	0			Z47362	CCDS4169.1, CCDS4170.1, CCDS43362.1, CCDS47263.1, CCDS47263.2	5q31	2008-02-05			ENSG00000081059	ENSG00000081059			11639	protein-coding gene	gene with protein product		189908					Standard	NM_003202		Approved	TCF-1	uc003kyt.3	P36402	OTTHUMG00000129124	ENST00000321584.4:c.465C>T	5.37:g.133473773C>T			B3KSH3|Q86WR9|Q9UKI4	Missense_Mutation	SNP	NULL	p.T58M	ENST00000321584.4	37	c.173		5																																																																																			TCF7	-	NULL	ENSG00000081059		0.572	TCF7-201	KNOWN	basic	protein_coding	TCF7	HGNC	protein_coding		-	0	55	0	C	NM_201634		133473773	1	tier1	-	no_errors	ENST00000517741	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.092	T	T	133473773	C	T	133473773	2	4	66	1	0	0	0	0	0	0	0	1	15743	535	19	1		1	TCF7	5	133473773	Silent	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	21084302	133473773	47441487	40	18081											
LARS	51520	genome.wustl.edu	37	chr5	145539938	145539938	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtataacaaacttaccGcttcccaaatttaattttgt	14	15	3	9	1	1	0	1	0	0	0	2	0	2	0	2	0	3	2	2	0	7	8			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:145539938G>A	ENST00000394434.2	-	7	872	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Splice_Site_p.R190W|LARS_ENST00000274562.9_Splice_Site_p.R209W|LARS_ENST00000510191.1_Splice_Site_p.R182W	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	236					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAAACTTACCGCTTCCCAAAT	0.383																																																	0													61	56	58					5																	145539938		2203	4300	6503	SO:0001630	splice_region_variant	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.707+1C>T	5.37:g.145539938G>A			A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.R236W	ENST00000394434.2	37	c.706	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673805	0.67928	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.72	2.75	0.32379	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.054928	0.64402	D	0.000002	T	0.71736	0.3375	H	0.97158	3.95	0.58432	D	0.999998	D;B;D	0.89917	1.0;0.03;1.0	D;B;D	0.97110	1.0;0.011;0.999	T	0.74910	-0.3503	10	0.87932	D	0	-10.5194	8.1048	0.30879	0.0705:0.0:0.5293:0.4002	.	209;190;236	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	W	236;190;182;209	ENSP00000377954:R236W;ENSP00000437791:R190W;ENSP00000426005:R182W;ENSP00000274562:R209W	ENSP00000274562:R209W	R	-	1	2	LARS	145520131	1.000000	0.71417	0.998000	0.56505	0.736000	0.42039	3.797000	0.55514	0.724000	0.32296	0.655000	0.94253	CGG	LARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.383	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	-	0	52	0	G	NM_020117	Missense_Mutation	145539938	-1	tier1	-	no_errors	ENST00000394434	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	145539938	G	A	145539938	5	1	66	1	0	0	0	0	0	0	1	0	8662	1101	38	1	2928	1	LARS	5	145539938	Splice_Site	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	12066165	145539938	35375322	41	18082											
RPL26L1	51121	genome.wustl.edu	37	chr5	172396449	172396449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctaaaactggacaaggatCggaaaaaaattcttgaacgc	17	7	10	7	2	1	1	0	1	1	0	2	4	1	4	0	4	2	1	0	4	7	3	rs371090798		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr5:172396449C>T	ENST00000521476.1	+	4	467	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	RPL26L1_ENST00000265100.2_Missense_Mutation_p.R115W|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R115W|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R115W			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	115					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGACAAGGATCGGAAAAAAAT	0.388																																																	0													104	111	109					5																	172396449		2203	4300	6503	SO:0001583	missense	0			AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"L ribosomal proteins"	17050	protein-coding gene	gene with protein product			"ribosomal protein L26 pseudogene 1"	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.343C>T	5.37:g.172396449C>T	ENSP00000428223:p.Arg115Trp		B3KY82|D3DQM0	Missense_Mutation	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.R115W	ENST00000521476.1	37	c.343	CCDS4382.1	5	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827649	0.71143	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.49	-1.15	0.09709	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.216666	0.48767	D	0.000177	T	0.67363	0.2885	M	0.75884	2.315	0.53688	D	0.999978	D	0.64830	0.994	P	0.60068	0.868	T	0.68345	-0.5433	9	0.87932	D	0	.	10.7335	0.46111	0.4661:0.4172:0.1166:0.0	.	115	Q9UNX3	RL26L_HUMAN	W	115	.	ENSP00000265100:R115W	R	+	1	2	RPL26L1	172329055	0.986000	0.35501	0.241000	0.24154	0.946000	0.59487	1.438000	0.35002	-0.351000	0.08249	-0.238000	0.12139	CGG	RPL26L1	-	superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L26/L24P_euk/arc	ENSG00000037241		0.388	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26L1	HGNC	protein_coding	OTTHUMT00000372559.1	-	0	87	0	C	NM_016093		172396449	1	tier1	-	no_errors	ENST00000265100	ensembl	human	known	74_37	missense	11.90	73	10	SNP	0.996	T	T	172396449	C	T	172396449	3	4	66	1	0	0	0	0	1	0	0	0	13619	875	31	1	353	1	RPL26L1	5	172396449	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	26856511	172396449	8518811	42	18083											
C2	717	genome.wustl.edu	37	chr6	31912622	31912622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacccaggaggatgagagtcCctgcaagggtgagtccctca	10	6	14	11	0	1	2	1	2	0	1	3	6	3	4	3	3	1	1	3	3	1	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:31912622C>A	ENST00000299367.5	+	16	2297	c.2021C>A	c.(2020-2022)cCc>cAc	p.P674H	C2_ENST00000469372.1_Missense_Mutation_p.P428H|CFB_ENST00000456570.1_Missense_Mutation_p.P521H|C2_ENST00000442278.2_Missense_Mutation_p.P542H|CFB_ENST00000477310.1_Missense_Mutation_p.P445H|C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.P460H|CFB_ENST00000556679.1_Missense_Mutation_p.P521H|CFB_ENST00000425368.2_5'Flank	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	674	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GATGAGAGTCCCTGCAAGGGT	0.562																																																	0													100	90	94					6																	31912622		1511	2709	4220	SO:0001583	missense	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.2021C>A	6.37:g.31912622C>A	ENSP00000299367:p.Pro674His		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P521H	ENST00000299367.5	37	c.1562	CCDS4728.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.53|19.53	3.844051|3.844051	0.71488|0.71488	.|.	.|.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255;ENSG00000244255|ENSG00000166278	ENST00000469372;ENST00000497706;ENST00000452323;ENST00000299367;ENST00000375493;ENST00000442278;ENST00000556679;ENST00000456570;ENST00000477310|ENST00000383177	T;T;T;T;T;T;T;T|T	0.30182|0.26223	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54|1.75	5.39|5.39	4.52|4.52	0.55395|0.55395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|0.000000	0.38959|0.38959	N|N	0.001501|0.001501	T|T	0.17619|0.17619	0.0423|0.0423	M|M	0.73962|0.73962	2.25|2.25	0.30244|0.30244	N|N	0.794696|0.794696	D;D;D;D;D;D;D;D;D|.	0.89917|.	0.998;1.0;1.0;1.0;0.997;1.0;0.999;0.959;1.0|.	D;D;D;D;D;D;D;D;D|.	0.85130|.	0.963;0.992;0.986;0.994;0.969;0.969;0.982;0.918;0.997|.	T|T	0.17531|0.17531	-1.0366|-1.0366	10|8	0.66056|0.14252	D|T	0.02|0.57	-7.5009|-7.5009	9.9254|9.9254	0.41489|0.41489	0.0:0.9061:0.0:0.0939|0.0:0.9061:0.0:0.0939	.|.	521;645;460;428;542;359;542;674;461|.	B4E1Z4;B4DV48;B4DPF3;B4DQI1;E9PFN7;F8VNY6;B4DV20;P06681;E9PDZ0|.	.;.;.;.;.;.;.;CO2_HUMAN;.|.	H|T	428;461;460;674;359;542;521;521;445|448	ENSP00000418923:P428H;ENSP00000417482:P461H;ENSP00000392322:P460H;ENSP00000299367:P674H;ENSP00000395683:P542H;ENSP00000451848:P521H;ENSP00000410815:P521H;ENSP00000418996:P445H|ENSP00000372664:P448T	ENSP00000299367:P674H|ENSP00000372664:P448T	P|P	+|+	2|1	0|0	CFB;C2;XXbac-BPG116M5.17|C2	32020601|32020601	0.649000|0.649000	0.27322|0.27322	0.937000|0.937000	0.37676|0.37676	0.966000|0.966000	0.64601|0.64601	3.985000|3.985000	0.56930|0.56930	1.294000|1.294000	0.44707|0.44707	0.563000|0.563000	0.77884|0.77884	CCC|CCT	CFB	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000243649		0.562	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076379.9	-	0	61	0	C			31912622	1	tier1	-	no_errors	ENST00000556679	ensembl	human	known	74_37	missense	25.26	71	24	SNP	0.979	A	A	31912622	C	A	31912622	3	1	66	1	0	0	0	0	1	0	0	0	2081	623	22	3	2160	3	C2	6	31912622	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09		31912622	139202445	43	18084											
LRFN2	57497	genome.wustl.edu	37	chr6	40399901	40399901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctacccagtggataagggGgctggggtccccaatggctt	7	8	16	10	0	0	0	0	0	0	0	1	1	1	1	3	7	1	3	3	7	3	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:40399901G>A	ENST00000338305.6	-	2	1494	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	318	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGATAAGGGGGCTGGGGTCC	0.597																																																	0													40	41	41					6																	40399901		2203	4299	6502	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.952C>T	6.37:g.40399901G>A	ENSP00000345985:p.Pro318Ser		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P318S	ENST00000338305.6	37	c.952	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130232	0.77549	.	.	ENSG00000156564	ENST00000338305	T	0.73258	-0.73	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	H	0.96720	3.87	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.91606	0.5299	10	0.62326	D	0.03	.	18.2433	0.89974	0.0:0.0:1.0:0.0	.	318	Q9ULH4	LRFN2_HUMAN	S	318	ENSP00000345985:P318S	ENSP00000345985:P318S	P	-	1	0	LRFN2	40507879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.853000	0.99521	2.661000	0.90470	0.655000	0.94253	CCC	LRFN2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000156564		0.597	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1	-	0	82	0	G	XM_166372		40399901	-1	tier1	-	no_errors	ENST00000338305	ensembl	human	known	74_37	missense	5.56	102	6	SNP	1.000	A	A	40399901	G	A	40399901	3	1	66	1	0	0	0	0	1	0	0	0	8973	1232	43	3	1425	3	LRFN2	6	40399901	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	8487279	40399901	130715166	44	18085											
UBR2	23304	genome.wustl.edu	37	chr6	42657384	42657384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctccttaccttgatgactAtggggagaccgaccagggac	9	9	11	12	1	0	3	0	2	0	1	2	6	2	4	5	3	1	0	5	3	2	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:42657384A>G	ENST00000372899.1	+	46	5360	c.5102A>G	c.(5101-5103)tAt>tGt	p.Y1701C	UBR2_ENST00000372901.1_Missense_Mutation_p.Y1701C|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1701					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CTTGATGACTATGGGGAGACC	0.507																																																	0													275	281	279					6																	42657384		2203	4300	6503	SO:0001583	missense	0			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"Ubiquitin protein ligase E3 component n-recognins"	21289	protein-coding gene	gene with protein product		609134	"chromosome 6 open reading frame 133"	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.5102A>G	6.37:g.42657384A>G	ENSP00000361990:p.Tyr1701Cys		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Y1701C	ENST00000372899.1	37	c.5102	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654929	0.88056	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.64438	-0.1;-0.1	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	M	0.91612	3.225	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	D	0.85416	0.1140	10	0.72032	D	0.01	0.1728	15.5568	0.76200	1.0:0.0:0.0:0.0	.	289;1701;1701	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	C	1701	ENSP00000361990:Y1701C;ENSP00000361992:Y1701C	ENSP00000361990:Y1701C	Y	+	2	0	UBR2	42765362	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.339000	0.96797	2.073000	0.62155	0.455000	0.32223	TAT	UBR2	-	NULL	ENSG00000024048		0.507	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	-	0	66	0	A	NM_015255		42657384	1	tier1	-	no_errors	ENST00000372899	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	G	G	42657384	A	G	42657384	3	3	66	1	0	0	0	0	1	0	0	0	16951	449	16	4	5430	4	UBR2	6	42657384	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	2257483	42657384	128457683	45	18086											
RUNX2	860	genome.wustl.edu	37	chr6	45399659	45399659	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcatggcgggtaacgaTgaaaattattctgctgagct	11	12	11	7	2	2	2	1	2	1	0	2	3	2	2	0	2	3	3	0	2	4	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:45399659T>A	ENST00000371438.1	+	3	841	c.483T>A	c.(481-483)gaT>gaA	p.D161E	RUNX2_ENST00000541979.1_Missense_Mutation_p.D229E|RUNX2_ENST00000465038.2_Missense_Mutation_p.D161E|RUNX2_ENST00000359524.5_Missense_Mutation_p.D147E|RUNX2_ENST00000371432.3_Missense_Mutation_p.D147E|RUNX2_ENST00000576263.1_Missense_Mutation_p.D161E|RUNX2_ENST00000371436.6_Missense_Mutation_p.D161E|RUNX2_ENST00000352853.5_Missense_Mutation_p.D229E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	161	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGGTAACGATGAAAATTATT	0.483																																																	0													166	156	160					6																	45399659		2203	4300	6503	SO:0001583	missense	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.483T>A	6.37:g.45399659T>A	ENSP00000360493:p.Asp161Glu		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.D229E	ENST00000371438.1	37	c.687	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831033	0.50845	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99701	-6.45;-6.45;-6.45;-6.45;-6.45;-6.45;-6.45	4.96	2.52	0.30459	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.73962	2.25	0.80722	D	1	P;P;P	0.47302	0.574;0.893;0.784	P;P;P	0.53689	0.618;0.732;0.711	D	0.99123	1.0850	10	0.87932	D	0	-6.0812	9.2552	0.37579	0.0:0.2174:0.0:0.7826	.	229;161;147	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	161;229;229;161;161;147;147	ENSP00000420707:D161E;ENSP00000319087:D229E;ENSP00000446290:D229E;ENSP00000360493:D161E;ENSP00000360491:D161E;ENSP00000352514:D147E;ENSP00000360486:D147E	ENSP00000319087:D229E	D	+	3	2	RUNX2	45507637	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.161000	0.31773	0.316000	0.23135	-0.297000	0.09499	GAT	RUNX2	-	pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	ENSG00000124813		0.483	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2	-	0	104	0	T	NM_004348		45399659	1	tier1	-	no_errors	ENST00000352853	ensembl	human	known	74_37	missense	10.91	98	12	SNP	1.000	A	A	45399659	T	A	45399659	3	1	66	1	0	0	0	0	1	0	0	0	13793	1461	51	5	509	5	RUNX2	6	45399659	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	2742275	45399659	125715408	46	18087											
OR2A4	79541	genome.wustl.edu	37	chr6	132022418	132022418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagccccagtatggtccCgttccccagcagggtgaaga	9	7	13	12	1	0	3	0	2	0	1	2	4	2	3	5	2	2	3	5	2	2	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:132022418C>T	ENST00000315453.2	-	1	217	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	42					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		AGTATGGTCCCGTTCCCCAGC	0.577																																																	0													16	17	17					6																	132022418		2132	4193	6325	SO:0001583	missense	0			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.124G>A	6.37:g.132022418C>T	ENSP00000319546:p.Gly42Arg		Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.G42R	ENST00000315453.2	37	c.124	CCDS5149.1	6	.	.	.	.	.	.	.	.	.	.	-	7.370	0.626638	0.14257	.	.	ENSG00000180658	ENST00000315453	T	0.00441	7.41	1.68	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37261	U	0.002168	T	0.00412	0.0013	M	0.77313	2.365	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.52975	-0.8503	10	0.39692	T	0.17	.	6.7069	0.23257	0.0:0.6999:0.3001:0.0	.	42	O95047	OR2A4_HUMAN	R	42	ENSP00000319546:G42R	ENSP00000319546:G42R	G	-	1	0	OR2A4	132064111	0.000000	0.05858	0.740000	0.30986	0.000000	0.00434	-5.764000	0.00100	0.975000	0.38392	0.000000	0.15137	GGG	OR2A4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180658		0.577	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A4	HGNC	protein_coding	OTTHUMT00000109221.1	-	0	60	0	C	NM_030908		132022418	-1	tier1	-	no_errors	ENST00000315453	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.099	T	T	132022418	C	T	132022418	3	4	66	1	0	0	0	0	1	0	0	0	11018	652	23	1	811	1	OR2A4	6	132022418	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	86622759	132022418	39092649	47	18088											
PPIL4	85313	genome.wustl.edu	37	chr6	149847891	149847891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctggaggtttaatatCtgcatcaggtaggtctccca	9	15	9	8	0	4	0	1	0	3	0	5	1	4	1	1	4	1	3	1	4	3	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:149847891C>A	ENST00000253329.2	-	8	732	c.700G>T	c.(700-702)Gat>Tat	p.D234Y		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	234					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GGTTTAATATCTGCATCAGGT	0.358																																																	0													94	87	89					6																	149847891		2203	4299	6502	SO:0001583	missense	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"RNA binding motif (RRM) containing"	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.700G>T	6.37:g.149847891C>A	ENSP00000253329:p.Asp234Tyr		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.D234Y	ENST00000253329.2	37	c.700	CCDS34550.1	6	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680681	0.88542	.	.	ENSG00000131013	ENST00000253329	T	0.74632	-0.86	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);	0.085191	0.85682	D	0.000000	D	0.87589	0.6215	M	0.90309	3.105	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.64506	0.926;0.915	D	0.88983	0.3409	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	234;234	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	Y	234	ENSP00000253329:D234Y	ENSP00000253329:D234Y	D	-	1	0	PPIL4	149889584	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.776000	0.68924	2.785000	0.95823	0.655000	0.94253	GAT	PPIL4	-	NULL	ENSG00000131013		0.358	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1		0	30	0	C			149847891	-1			no_errors	ENST00000253329	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	A	A	149847891	C	A	149847891	3	1	66	1	0	0	0	0	1	0	0	0	12371	913	32	3	802	3	PPIL4	6	149847891	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	17825473	149847891	21267176	48	18089											
SYNE1	23345	genome.wustl.edu	37	chr6	152472809	152472809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagtctcaaactcctcaCgctggccaataaaatgctgg	11	8	9	13	2	2	0	2	0	1	0	4	0	3	0	2	2	2	3	2	2	4	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr6:152472809C>T	ENST00000367255.5	-	135	24930	c.24329G>A	c.(24328-24330)cGt>cAt	p.R8110H	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2634H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7722H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8039H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R265H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8110H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R265H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8039H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8110					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAACTCCTCACGCTGGCCAAT	0.423										HNSCC(10;0.0054)																																							0													36	35	35					6																	152472809		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24329G>A	6.37:g.152472809C>T	ENSP00000356224:p.Arg8110His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R8110H	ENST00000367255.5	37	c.24329	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.454421	0.96223	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000020	T	0.52403	0.1732	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.995;0.995;0.992;0.995;0.986	T	0.32161	-0.9917	10	0.36615	T	0.2	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	8110;8110;8039;8039;312	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8110;265;756;8039;8110;8039;7722;2634;272;267;1032;265	ENSP00000356224:R8110H;ENSP00000441052:R265H;ENSP00000356226:R756H;ENSP00000396024:R8039H;ENSP00000265368:R8110H;ENSP00000390975:R8039H;ENSP00000341887:R7722H;ENSP00000349276:R2634H;ENSP00000356220:R1032H;ENSP00000346701:R265H	ENSP00000265368:R8110H	R	-	2	0	SYNE1	152514502	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	7.625000	0.83145	2.836000	0.97738	0.655000	0.94253	CGT	SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom	ENSG00000131018		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	34	0	C	NM_182961		152472809	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	152472809	C	T	152472809	3	4	66	1	0	0	0	0	1	0	0	0	15492	536	19	1	2185	1	SYNE1	6	152472809	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	2624918	152472809	18642258	49	18090											
ASNS	440	genome.wustl.edu	37	chr7	97482391	97482391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgttcaacgtattccTgtaaaatcttaaaccaggaa	14	12	6	9	1	2	1	1	1	1	0	3	2	3	2	3	1	2	3	3	1	7	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:97482391T>C	ENST00000394309.3	-	12	1928	c.1457A>G	c.(1456-1458)cAg>cGg	p.Q486R	ASNS_ENST00000422745.1_Missense_Mutation_p.Q465R|ASNS_ENST00000394308.3_Missense_Mutation_p.Q486R|ASNS_ENST00000175506.4_Missense_Mutation_p.Q486R|ASNS_ENST00000455086.1_Missense_Mutation_p.Q403R|ASNS_ENST00000437628.1_Missense_Mutation_p.Q403R|ASNS_ENST00000444334.1_Missense_Mutation_p.Q465R	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	486	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACGTATTCCTGTAAAATCTT	0.358																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)												0													40	38	39					7																	97482391		2203	4300	6503	SO:0001583	missense	0			M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"asparagine synthetase"				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1457A>G	7.37:g.97482391T>C	ENSP00000377846:p.Gln486Arg		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB	p.Q486R	ENST00000394309.3	37	c.1457	CCDS5652.1	7	.	.	.	.	.	.	.	.	.	.	T	13.49	2.251483	0.39797	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.42131	0.99;0.99;0.98;0.99;0.98;0.98;0.98	3.63	3.63	0.41609	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	L	0.33245	0.995	0.58432	D	0.999999	B	0.12630	0.006	B	0.18871	0.023	T	0.19877	-1.0292	10	0.56958	D	0.05	-20.7808	10.8782	0.46923	0.0:0.0:0.0:1.0	.	486	P08243	ASNS_HUMAN	R	486;486;403;486;465;403;465	ENSP00000175506:Q486R;ENSP00000377846:Q486R;ENSP00000414379:Q403R;ENSP00000377845:Q486R;ENSP00000414901:Q465R;ENSP00000408472:Q403R;ENSP00000406994:Q465R	ENSP00000175506:Q486R	Q	-	2	0	ASNS	97320327	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.107000	0.64603	1.879000	0.54435	0.459000	0.35465	CAG	ASNS	-	NULL	ENSG00000070669		0.358	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASNS	HGNC	protein_coding	OTTHUMT00000333645.1		0	32	0	T	NM_001673, NM_183356		97482391	-1			no_errors	ENST00000175506	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	C	C	97482391	T	C	97482391	3	2	66	1	0	0	0	0	1	0	0	0	1049	1580	55	4	236	4	ASNS	7	97482391	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09		97482391	61656272	50	18091											
TECPR1	25851	genome.wustl.edu	37	chr7	97847352	97847352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttggcgataccacaggtTtcctggggagaaaagcagtg	10	8	13	10	1	0	1	0	0	0	1	1	3	1	1	3	4	2	2	3	4	3	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:97847352T>C	ENST00000447648.2	-	24	3459	c.3160A>G	c.(3160-3162)Aac>Gac	p.N1054D	TECPR1_ENST00000379795.3_Missense_Mutation_p.N1056D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1054					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.N1055D(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TACCACAGGTTTCCTGGGGAG	0.672																																																	1	Substitution - Missense(1)	endometrium(1)											22	25	24					7																	97847352		1931	4096	6027	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3160A>G	7.37:g.97847352T>C	ENSP00000404923:p.Asn1054Asp		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.N1056D	ENST00000447648.2	37	c.3166	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	T	16.81	3.226956	0.58668	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	T;T	0.80033	-1.33;-1.33	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86699	0.1928	10	0.33940	T	0.23	-52.0065	13.3346	0.60509	0.0:0.0:0.0:1.0	.	1054	Q7Z6L1	TCPR1_HUMAN	D	1054;1056	ENSP00000404923:N1054D;ENSP00000369121:N1056D	ENSP00000369121:N1056D	N	-	1	0	TECPR1	97685288	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	6.186000	0.72026	1.744000	0.51775	0.459000	0.35465	AAC	TECPR1	-	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.672	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1		0	30	0	T	NM_015395		97847352	-1			no_errors	ENST00000379795	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.998	C	C	97847352	T	C	97847352	3	2	66	1	0	0	0	0	1	0	0	0	15790	1841	64	4	349	4	TECPR1	7	97847352	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	364961	97847352	61291311	51	18092											
TRIM4	89122	genome.wustl.edu	37	chr7	99506320	99506320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattcagcttcttcttcGtctcttcttcttctttgttc	2	23	3	13	1	8	0	2	0	7	0	12	0	8	0	0	0	1	2	0	0	0	9			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:99506320G>A	ENST00000355947.2	-	4	812	c.683C>T	c.(682-684)aCg>aTg	p.T228M	TRIM4_ENST00000349062.2_Missense_Mutation_p.T202M|TRIM4_ENST00000354241.5_Missense_Mutation_p.T202M	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	228					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CTTCTTCTTCGTCTCTTCTTC	0.448																																																	0													205	176	186					7																	99506320		2203	4300	6503	SO:0001583	missense	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.683C>T	7.37:g.99506320G>A	ENSP00000348216:p.Thr228Met		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T228M	ENST00000355947.2	37	c.683	CCDS5679.1	7	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232224	0.05983	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799;ENST00000354241	T;T;T	0.04502	3.61;3.61;3.61	2.68	1.3	0.21679	.	.	.	.	.	T	0.03178	0.0093	L	0.31294	0.92	0.09310	N	1	P;B;B	0.41784	0.762;0.389;0.042	B;B;B	0.33042	0.157;0.035;0.003	T	0.43130	-0.9410	9	0.54805	T	0.06	.	4.7819	0.13206	0.2607:0.0:0.7393:0.0	.	202;202;228	Q9C037-3;Q9C037-2;Q9C037	.;.;TRIM4_HUMAN	M	228;202;58;202	ENSP00000348216:T228M;ENSP00000275736:T202M;ENSP00000346186:T202M	ENSP00000275736:T202M	T	-	2	0	TRIM4	99344256	0.014000	0.17966	0.045000	0.18777	0.202000	0.24057	-0.146000	0.10250	0.369000	0.24510	0.650000	0.86243	ACG	TRIM4	-	NULL	ENSG00000146833		0.448	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1	-	0	76	0	G	NM_033017		99506320	-1	tier1	-	no_errors	ENST00000355947	ensembl	human	known	74_37	missense	8.79	83	8	SNP	0.052	A	A	99506320	G	A	99506320	3	1	66	1	0	0	0	0	1	0	0	0	16562	1145	40	1	835	1	TRIM4	7	99506320	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	1658968	99506320	59632343	52	18093											
SPDYE3	441272	genome.wustl.edu	37	chr7	99917283	99917283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactctcacatacccttgcGccctaagcattggttccagt	8	11	6	16	1	1	0	1	0	1	0	3	0	2	0	4	1	3	2	4	1	2	5	rs577036288		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:99917283G>A	ENST00000332397.6	+	9	1626	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	SPDYE3_ENST00000437326.2_Missense_Mutation_p.R104H	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	481										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						ATACCCTTGCGCCCTAAGCAT	0.537													.|||	1	0.000199681	8e-04	0	5008	,	,		18682	0		0	False		,,,				2504	0																0													131	138	136					7																	99917283		2203	4300	6503	SO:0001583	missense	0			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"Speedy homologs"	35462	protein-coding gene	gene with protein product			"speedy homolog E3 (Xenopus laevis)"				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1442G>A	7.37:g.99917283G>A	ENSP00000329565:p.Arg481His		Q495Y9|Q6PHC4	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.R481H	ENST00000332397.6	37	c.1442	CCDS47658.2	7	.	.	.	.	.	.	.	.	.	.	T	1.172	-0.640657	0.03557	.	.	ENSG00000214300	ENST00000332397;ENST00000437326	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	T	0.17874	0.0429	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.18587	-1.0332	5	0.45353	T	0.12	.	.	.	.	.	.	.	.	H	481;104	.	ENSP00000329565:R481H	R	+	2	0	SPDYE3	99755219	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.964000	0.03833	-1.216000	0.02607	-1.241000	0.01538	CGC	SPDYE3	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000214300		0.537	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE3	HGNC	protein_coding	OTTHUMT00000340224.2	-	0	263	0	G	NM_001004351		99917283	1	tier1	-	no_errors	ENST00000332397	ensembl	human	known	74_37	missense	35.66	173	97	SNP	0.000	A	A	99917283	G	A	99917283	3	1	66	1	0	0	0	0	1	0	0	0	15077	1087	38	1	1476	1	SPDYE3	7	99917283	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	410963	99917283	59221380	53	18094											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147844591	147844591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctcctccagctgccacaGaagtgtccttttcatttgat	7	14	7	13	0	1	2	1	1	0	1	4	2	4	2	4	0	3	2	4	0	1	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr7:147844591G>C	ENST00000361727.3	+	17	3079	c.2563G>C	c.(2563-2565)Gaa>Caa	p.E855Q	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	855	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCTGCCACAGAAGTGTCCTT	0.473										HNSCC(39;0.1)																																							0													125	126	126					7																	147844591		2203	4300	6503	SO:0001583	missense	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2563G>C	7.37:g.147844591G>C	ENSP00000354778:p.Glu855Gln		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.E855Q	ENST00000361727.3	37	c.2563	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134577	0.56828	.	.	ENSG00000174469	ENST00000361727	D	0.87966	-2.32	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.280121	0.35615	N	0.003097	D	0.82724	0.5099	L	0.31157	0.91	0.80722	D	1	B	0.21452	0.056	B	0.32928	0.155	T	0.76919	-0.2781	10	0.17832	T	0.49	.	17.6488	0.88157	0.0:0.0:1.0:0.0	.	855	Q9UHC6	CNTP2_HUMAN	Q	855	ENSP00000354778:E855Q	ENSP00000354778:E855Q	E	+	1	0	CNTNAP2	147475524	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.902000	0.87389	2.507000	0.84556	0.561000	0.74099	GAA	CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000174469		0.473	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	-	0	44	0	G			147844591	1	tier1	-	no_errors	ENST00000361727	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.993	C	C	147844591	G	C	147844591	3	2	66	1	0	0	0	0	1	0	0	0	3654	943	33	5	2629	5	CNTNAP2	7	147844591	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	47927308	147844591	11294072	54	18095											
GNRH1	2796	genome.wustl.edu	37	chr8	25279131	25279131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggagaacgtggctggtgCgtggtgcattcgaagcgttg	7	9	19	6	4	0	1	0	0	0	1	1	3	0	1	0	5	4	3	0	5	2	2	rs577363506		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:25279131C>T	ENST00000276414.4	-	2	1518	c.195G>A	c.(193-195)acG>acA	p.T65T	GNRH1_ENST00000421054.2_Silent_p.T65T	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	65					cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|ovulation cycle (GO:0042698)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|response to corticosteroid (GO:0031960)|response to ethanol (GO:0045471)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	gonadotropin hormone-releasing hormone activity (GO:0005183)|hormone activity (GO:0005179)			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		GTGGCTGGTGCGTGGTGCATT	0.458																																																	0													90	100	97					8																	25279131		2047	4200	6247	SO:0001819	synonymous_variant	0			X01059	CCDS43725.1	8p21-p11.2	2013-02-26	2004-10-13		ENSG00000147437	ENSG00000147437		"Endogenous ligands"	4419	protein-coding gene	gene with protein product		152760	"gonadotropin-releasing hormone 1 (leutinizing-releasing hormone)"	GRH, GNRH, LHRH		6090951	Standard	NM_000825		Approved		uc003xem.4	P01148	OTTHUMG00000163852	ENST00000276414.4:c.195G>A	8.37:g.25279131C>T			A0AVP0	Silent	SNP	pfam_GnRH,prints_Gonadoliberin_I_precursor	p.T65	ENST00000276414.4	37	c.195	CCDS43725.1	8																																																																																			GNRH1	-	prints_Gonadoliberin_I_precursor	ENSG00000147437		0.458	GNRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNRH1	HGNC	protein_coding	OTTHUMT00000375982.1	-	0	83	0	C	NM_001083111		25279131	-1	tier1	-	no_errors	ENST00000276414	ensembl	human	known	74_37	silent	25.00	69	23	SNP	0.025	T	T	25279131	C	T	25279131	2	4	66	1	0	0	0	0	0	0	0	1	6573	755	27	1		1	GNRH1	8	25279131	Silent	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09		25279131	121084891	55	18096											
EPHX2	2053	genome.wustl.edu	37	chr8	27398991	27398991	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgatctctccccagaGgtcctctaaactggtaccga	8	12	7	14	1	3	2	0	1	3	1	6	3	5	2	4	2	2	1	4	2	3	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:27398991G>A	ENST00000521400.1	+	16	1811	c.1381G>A	c.(1381-1383)Ggt>Agt	p.G461S	EPHX2_ENST00000517536.1_Splice_Site_p.G278S|EPHX2_ENST00000521780.1_Splice_Site_p.G395S|EPHX2_ENST00000518379.1_Splice_Site_p.G429S|EPHX2_ENST00000380476.3_Splice_Site_p.G408S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	461	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TCTCCCCAGAGGTCCTCTAAA	0.527																																																	0													109	96	101					8																	27398991		2203	4300	6503	SO:0001630	splice_region_variant	0			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1380-1G>A	8.37:g.27398991G>A			B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_HAD-SF_hydro_IA,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA	p.G461S	ENST00000521400.1	37	c.1381	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378264	0.82682	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.92	5.92	0.95590	Alpha/beta hydrolase fold-1 (1);	0.101413	0.64402	D	0.000003	T	0.78142	0.4237	M	0.84585	2.705	0.58432	D	0.999997	D;D	0.76494	0.991;0.999	D;D	0.72982	0.919;0.979	T	0.79150	-0.1922	10	0.49607	T	0.09	0.857	15.8242	0.78686	0.0:0.0:1.0:0.0	.	429;461	E5RFU2;P34913	.;HYES_HUMAN	S	461;278;395;408;408;429	ENSP00000430269:G461S;ENSP00000428875:G278S;ENSP00000430302:G395S;ENSP00000369843:G408S;ENSP00000427956:G429S	ENSP00000369843:G408S	G	+	1	0	EPHX2	27454908	1.000000	0.71417	0.971000	0.41717	0.793000	0.44817	3.566000	0.53805	2.798000	0.96311	0.557000	0.71058	GGT	EPHX2	-	pfam_AB_hydrolase_1	ENSG00000120915		0.527	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	-	0	67	0	G		Missense_Mutation	27398991	1	tier1	-	no_errors	ENST00000521400	ensembl	human	known	74_37	missense	7.32	76	6	SNP	0.998	A	A	27398991	G	A	27398991	5	1	66	1	0	0	0	0	0	0	1	0	5196	1014	35	3	1443	3	EPHX2	8	27398991	Splice_Site	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	2119860	27398991	118965031	56	18097											
ADAM32	203102	genome.wustl.edu	37	chr8	39007314	39007314	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttctttcctagactcAatgctactatcaaggaaata	12	17	4	8	0	3	1	2	0	1	1	4	2	4	2	1	1	2	1	1	1	7	8			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:39007314A>T	ENST00000379907.4	+	5	408	c.281A>T	c.(280-282)cAa>cTa	p.Q94L	ADAM32_ENST00000437682.2_Missense_Mutation_p.Q101L|ADAM32_ENST00000519315.1_Missense_Mutation_p.Q94L	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	94						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TCCTAGACTCAATGCTACTAT	0.348																																																	0													112	103	106					8																	39007314		1868	4107	5975	SO:0001583	missense	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.281A>T	8.37:g.39007314A>T	ENSP00000369238:p.Gln94Leu		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.Q94L	ENST00000379907.4	37	c.281	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701452	0.48307	.	.	ENSG00000197140	ENST00000523400;ENST00000399831;ENST00000437682;ENST00000519315;ENST00000379907;ENST00000522506;ENST00000521741;ENST00000399826	T;T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34;3.34	5.16	5.16	0.70880	Peptidase M12B, propeptide (1);	0.263300	0.19952	N	0.102403	T	0.06872	0.0175	L	0.35644	1.08	0.18873	N	0.999987	B;B;B	0.19445	0.036;0.036;0.03	B;B;B	0.25987	0.03;0.05;0.065	T	0.31308	-0.9948	10	0.25751	T	0.34	.	11.6578	0.51328	1.0:0.0:0.0:0.0	.	101;94;94	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	L	125;94;101;94;94;94;20;95	ENSP00000427735:Q125L;ENSP00000382727:Q94L;ENSP00000405978:Q101L;ENSP00000429422:Q94L;ENSP00000369238:Q94L;ENSP00000429066:Q94L;ENSP00000431050:Q20L	ENSP00000369238:Q94L	Q	+	2	0	ADAM32	39126471	0.005000	0.15991	0.156000	0.22583	0.784000	0.44337	2.050000	0.41297	2.083000	0.62718	0.533000	0.62120	CAA	ADAM32	-	pfam_Peptidase_M12B_N	ENSG00000197140		0.348	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0	38	0	A	NM_145004		39007314	1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.278	T	T	39007314	A	T	39007314	3	4	66	1	0	0	0	0	1	0	0	0	249	130	5	5	299	5	ADAM32	8	39007314	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	11608323	39007314	107356708	57	18098											
VCPIP1	80124	genome.wustl.edu	37	chr8	67576874	67576874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtgattcggatcttcttctCcttagaagttgtcggtgaat	7	17	10	7	2	3	3	0	2	3	1	6	4	3	4	1	2	0	1	1	2	3	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:67576874C>G	ENST00000310421.4	-	1	2578	c.2320G>C	c.(2320-2322)Gag>Cag	p.E774Q	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	774					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATCTTCTTCTCCTTAGAAGTT	0.468																																					NSCLC(179;265 2915 6144 43644)												0													177	169	172					8																	67576874		2203	4300	6503	SO:0001583	missense	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"OTU domain containing"	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2320G>C	8.37:g.67576874C>G	ENSP00000309031:p.Glu774Gln		Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.E774Q	ENST00000310421.4	37	c.2320	CCDS6192.1	8	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411878	0.83340	.	.	ENSG00000175073	ENST00000310421	T	0.44083	0.93	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	L	0.60455	1.87	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.57820	-0.7745	10	0.39692	T	0.17	-12.8153	19.7534	0.96277	0.0:1.0:0.0:0.0	.	774	Q96JH7	VCIP1_HUMAN	Q	774	ENSP00000309031:E774Q	ENSP00000309031:E774Q	E	-	1	0	VCPIP1	67739428	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.647000	0.89833	0.655000	0.94253	GAG	VCPIP1	-	NULL	ENSG00000175073		0.468	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1		0	71	0	C			67576874	-1			no_errors	ENST00000310421	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	G	G	67576874	C	G	67576874	3	3	66	1	0	0	0	0	1	0	0	0	17190	864	30	5	1360	5	VCPIP1	8	67576874	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	28569560	67576874	78787148	58	18099											
ABRA	137735	genome.wustl.edu	37	chr8	107781944	107781944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcacattttctcctccGcgttggggagccgtggctgt	3	13	14	11	3	1	0	0	0	1	0	3	1	2	1	3	4	1	4	3	4	0	4	rs148548347		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:107781944G>A	ENST00000311955.3	-	1	529	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTTCTCCTCCGCGTTGGGGAG	0.577																																																	0								G	TRP/ARG	0,4406		0,0,2203	208	186	193		475	5.1	0.9	8	dbSNP_134	193	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABRA	NM_139166.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	159/382	107781944	1,13005	2203	4300	6503	SO:0001583	missense	0			AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"striated muscle activator of Rho-dependent signaling"	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.475C>T	8.37:g.107781944G>A	ENSP00000311436:p.Arg159Trp			Missense_Mutation	SNP	NULL	p.R159W	ENST00000311955.3	37	c.475	CCDS6305.1	8	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395952	0.62177	0.0	1.16E-4	ENSG00000174429	ENST00000311955	D	0.93488	-3.23	6.07	5.12	0.69794	.	0.100578	0.64402	D	0.000004	D	0.95322	0.8482	M	0.63843	1.955	0.53005	D	0.999964	D	0.89917	1.0	D	0.69824	0.966	D	0.94803	0.7972	10	0.72032	D	0.01	-13.0205	11.8862	0.52604	0.0:0.0:0.6313:0.3687	.	159	Q8N0Z2	ABRA_HUMAN	W	159	ENSP00000311436:R159W	ENSP00000311436:R159W	R	-	1	2	ABRA	107851120	0.999000	0.42202	0.940000	0.37924	0.330000	0.28571	3.236000	0.51336	2.884000	0.98904	0.655000	0.94253	CGG	ABRA	-	NULL	ENSG00000174429		0.577	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABRA	HGNC	protein_coding	OTTHUMT00000380416.1	-	0	107	0	G	NM_139166		107781944	-1	tier1	rs148548347	no_errors	ENST00000311955	ensembl	human	known	74_37	missense	21.36	81	22	SNP	0.985	A	A	107781944	G	A	107781944	3	1	66	1	0	0	0	0	1	0	0	0	100	1086	38	1	678	1	ABRA	8	107781944	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	40205070	107781944	38582078	59	18100											
ZHX1	11244	genome.wustl.edu	37	chr8	124266852	124266852	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagaagttggaactgcTgctgttgctggctttgtttc	5	17	12	7	0	0	1	0	1	0	1	1	3	0	2	0	2	4	7	0	2	2	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr8:124266852T>A	ENST00000522655.1	-	3	1875	c.1335A>T	c.(1333-1335)gcA>gcT	p.A445A	ZHX1_ENST00000297857.2_Silent_p.A445A|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Silent_p.A445A|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	445	Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTGGAACTGCTGCTGTTGCTG	0.438																																																	0													121	126	124					8																	124266852		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.1335A>T	8.37:g.124266852T>A			Q8IWD8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A445	ENST00000522655.1	37	c.1335	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	T	2.049	-0.418073	0.04766	.	.	ENSG00000165156	ENST00000520474	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	T	0.61590	0.2359	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60332	-0.7284	4	.	.	.	-14.8106	10.8255	0.46629	0.0:0.0:0.0:1.0	.	.	.	.	L	130	.	.	Q	-	2	0	ZHX1	124336033	0.991000	0.36638	0.997000	0.53966	0.627000	0.37826	0.366000	0.20365	2.048000	0.60808	0.374000	0.22700	CAG	ZHX1	-	NULL	ENSG00000165156		0.438	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0	41	0	T			124266852	-1	tier1	-	no_errors	ENST00000297857	ensembl	human	known	74_37	silent	29.41	36	15	SNP	1.000	A	A	124266852	T	A	124266852	2	1	66	1	0	0	0	0	0	0	0	1	17723	1567	55	5		5	ZHX1	8	124266852	Silent	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	16484908	124266852	22097170	60	18101											
C9orf131	138724	genome.wustl.edu	37	chr9	35043395	35043395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagttttctacccatgggGcccatactatggaagatcta	10	11	8	12	0	2	1	0	0	2	1	2	2	2	2	3	3	2	1	3	3	5	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:35043395G>T	ENST00000312292.5	+	2	816	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000421362.2_Missense_Mutation_p.A209S|C9orf131_ENST00000354479.5_Missense_Mutation_p.A184S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	257										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TACCCATGGGGCCCATACTAT	0.517																																																	0													143	133	136					9																	35043395		2203	4300	6503	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.769G>T	9.37:g.35043395G>T	ENSP00000308279:p.Ala257Ser		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.A257S	ENST00000312292.5	37	c.769	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332846	0.60853	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.35789	2.24;2.23;2.25;1.29	4.95	2.88	0.33553	.	1.016850	0.07898	N	0.972111	T	0.40297	0.1111	L	0.55481	1.735	0.09310	N	1	P;P;P	0.50819	0.939;0.939;0.939	B;P;P	0.48627	0.445;0.584;0.584	T	0.28744	-1.0034	10	0.72032	D	0.01	-0.2094	5.6979	0.17865	0.2601:0.0:0.7399:0.0	.	257;184;209	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	S	209;184;257;222	ENSP00000393683:A209S;ENSP00000346472:A184S;ENSP00000308279:A257S;ENSP00000368019:A222S	ENSP00000308279:A257S	A	+	1	0	C9orf131	35033395	0.001000	0.12720	0.019000	0.16419	0.136000	0.21042	0.300000	0.19156	1.246000	0.43901	0.650000	0.86243	GCC	C9orf131	-	NULL	ENSG00000174038		0.517	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	-	0	43	0	G	NM_203299		35043395	1	tier1	-	no_errors	ENST00000312292	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.004	T	T	35043395	G	T	35043395	3	4	66	1	0	0	0	0	1	0	0	0	2464	1203	42	3	791	3	C9orf131	9	35043395	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		35043395	106170036	61	18102											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39103809	39103809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccccggaggaaactgtgGtcttaaaaaagaagcacacg	16	5	10	10	2	1	1	0	0	1	1	1	3	1	3	2	3	2	1	2	3	5	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:39103809G>C	ENST00000297668.6	-	16	2541	c.2468C>G	c.(2467-2469)aCc>aGc	p.T823S	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.T822S|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.T735S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	823	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGAAACTGTGGTCTTAAAAAA	0.483																																																	0													29	33	32					9																	39103809		2203	4298	6501	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2468C>G	9.37:g.39103809G>C	ENSP00000297668:p.Thr823Ser		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T823S	ENST00000297668.6	37	c.2468	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628298	0.67015	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144	D;D;D	0.88975	-1.91;-2.45;-1.91	3.28	3.28	0.37604	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.93331	0.7874	M	0.78344	2.41	0.80722	D	1	D;D;D	0.76494	0.999;0.975;0.995	D;D;D	0.67382	0.919;0.934;0.951	D	0.94070	0.7334	9	0.72032	D	0.01	.	13.6746	0.62447	0.0:0.0:1.0:0.0	.	823;822;823	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	S	823;822;735	ENSP00000297668:T823S;ENSP00000366884:T822S;ENSP00000350863:T735S	ENSP00000297668:T823S	T	-	2	0	CNTNAP3	39093809	1.000000	0.71417	0.903000	0.35520	0.748000	0.42578	8.488000	0.90458	1.831000	0.53308	0.306000	0.20318	ACC	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.483	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0	83	0	G	NM_033655		39103809	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	9.28	88	9	SNP	0.998	C	C	39103809	G	C	39103809	3	2	66	1	0	0	0	0	1	0	0	0	3655	1261	44	5	1434	5	CNTNAP3	9	39103809	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	4060414	39103809	102109622	62	18103											
COL15A1	1306	genome.wustl.edu	37	chr9	101784427	101784427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccttctgggcctgttggaCccacggtgagattcccatcc	7	10	10	14	1	1	1	0	1	1	1	3	3	3	2	5	3	1	1	5	3	1	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:101784427C>T	ENST00000375001.3	+	13	2179	c.1756C>T	c.(1756-1758)Ccc>Tcc	p.P586S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	586	Nonhelical region 2 (NC2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GCCTGTTGGACCCACGGTGAG	0.562																																																	0													162	140	147					9																	101784427		2203	4300	6503	SO:0001583	missense	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1756C>T	9.37:g.101784427C>T	ENSP00000364140:p.Pro586Ser		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P586S	ENST00000375001.3	37	c.1756	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	C	7.073	0.568714	0.13560	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89746	-2.56	3.34	1.2	0.21068	.	0.287775	0.33938	N	0.004414	T	0.79240	0.4412	L	0.54323	1.7	0.24468	N	0.994409	B	0.34103	0.437	B	0.27500	0.08	T	0.63377	-0.6651	10	0.10111	T	0.7	-0.5306	5.3704	0.16136	0.2346:0.5371:0.2284:0.0	.	586	P39059	COFA1_HUMAN	S	586;556	ENSP00000364140:P586S	ENSP00000364140:P586S	P	+	1	0	COL15A1	100824248	0.996000	0.38824	0.849000	0.33467	0.069000	0.16628	0.637000	0.24659	0.701000	0.31803	0.467000	0.42956	CCC	COL15A1	-	NULL	ENSG00000204291		0.562	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0	71	0	C	NM_001855		101784427	1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.779	T	T	101784427	C	T	101784427	3	4	66	1	0	0	0	0	1	0	0	0	3679	507	18	3	1806	3	COL15A1	9	101784427	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	62680618	101784427	39429004	63	18104											
CTNNAL1	8727	genome.wustl.edu	37	chr9	111705299	111705299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaagagagccatcatggatCttgtcttcgtaatacacttg	11	13	8	9	1	3	1	1	0	2	1	4	3	3	2	1	1	2	1	1	1	3	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:111705299C>G	ENST00000325551.4	-	18	2167	c.2081G>C	c.(2080-2082)aGa>aCa	p.R694T	CTNNAL1_ENST00000374594.1_Missense_Mutation_p.R95T|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R610T|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.R694T|FAM206A_ENST00000374624.3_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	694					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CATCATGGATCTTGTCTTCGT	0.308																																																	0													70	68	69					9																	111705299		2202	4300	6502	SO:0001583	missense	0			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"alpha-catulin", "alpha2-catulin"	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.2081G>C	9.37:g.111705299C>G	ENSP00000320434:p.Arg694Thr		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.R694T	ENST00000325551.4	37	c.2081	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622114	0.66787	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580;ENST00000374594	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.85	4.94	0.65067	.	0.174844	0.64402	D	0.000011	T	0.53981	0.1830	L	0.54323	1.7	0.20307	N	0.999914	P;D;P;P;P	0.56521	0.801;0.976;0.801;0.734;0.801	P;P;P;P;P	0.51701	0.516;0.677;0.516;0.535;0.516	T	0.55159	-0.8184	10	0.87932	D	0	-20.0645	6.8882	0.24214	0.1749:0.7395:0.0:0.0856	.	694;610;694;694;694	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	T	694;694;610;95	ENSP00000363723:R694T;ENSP00000320434:R694T;ENSP00000323351:R610T;ENSP00000363722:R95T	ENSP00000320434:R694T	R	-	2	0	CTNNAL1	110745120	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	2.021000	0.41020	2.767000	0.95098	0.655000	0.94253	AGA	CTNNAL1	-	superfamily_Vinculin/catenin	ENSG00000119326		0.308	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	-	0	36	0	C	NM_003798		111705299	-1	tier1	-	no_errors	ENST00000325551	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	G	G	111705299	C	G	111705299	3	3	66	1	0	0	0	0	1	0	0	0	4024	913	32	5	131	5	CTNNAL1	9	111705299	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	9920872	111705299	29508132	64	18105											
TRAF1	7185	genome.wustl.edu	37	chr9	123667461	123667461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctgagcttaggtcaggcCggaaggcgtcaatggcgtgc	8	7	16	10	4	2	1	2	1	0	0	2	2	2	2	1	5	2	2	1	5	3	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:123667461C>T	ENST00000373887.3	-	8	3533	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	TRAF1_ENST00000540010.1_Missense_Mutation_p.R363Q|TRAF1_ENST00000546084.1_Missense_Mutation_p.R241Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	363	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TAGGTCAGGCCGGAAGGCGTC	0.602																																																	0													100	69	79					9																	123667461		2203	4300	6503	SO:0001583	missense	0			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.1088G>A	9.37:g.123667461C>T	ENSP00000362994:p.Arg363Gln		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	p.R363Q	ENST00000373887.3	37	c.1088	CCDS6825.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.257813	0.95368	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.46063	0.88;0.88;0.88	5.41	4.5	0.54988	TRAF-type (1);TRAF-like (1);MATH (3);	0.062091	0.64402	D	0.000004	T	0.42832	0.1220	M	0.84326	2.69	0.49483	D	0.999799	B	0.34015	0.435	B	0.21151	0.033	T	0.46400	-0.9194	10	0.34782	T	0.22	-39.0029	14.1697	0.65500	0.0:0.9235:0.0:0.0765	.	363	Q13077	TRAF1_HUMAN	Q	363;363;241	ENSP00000362994:R363Q;ENSP00000443183:R363Q;ENSP00000438583:R241Q	ENSP00000362994:R363Q	R	-	2	0	TRAF1	122707282	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.908000	0.63307	2.704000	0.92352	0.655000	0.94253	CGG	TRAF1	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000056558		0.602	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF1	HGNC	protein_coding	OTTHUMT00000053843.1	-	0	39	0	C	NM_005658		123667461	-1	tier1	-	no_errors	ENST00000373887	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T	T	123667461	C	T	123667461	3	4	66	1	0	0	0	0	1	0	0	0	16485	652	23	1	166	1	TRAF1	9	123667461	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	11962162	123667461	17545970	65	18106											
SPTAN1	6709	genome.wustl.edu	37	chr9	131337616	131337616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccagtttgctgccaaaCtcatacaggtaaatagcaaa	16	9	7	9	0	1	1	1	1	0	0	1	1	1	1	2	1	6	4	2	1	7	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr9:131337616C>G	ENST00000372731.4	+	5	753	c.643C>G	c.(643-645)Ctc>Gtc	p.L215V	SPTAN1_ENST00000372739.3_Missense_Mutation_p.L215V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.L215V	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	215					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTGCCAAACTCATACAGGT	0.343																																					NSCLC(120;833 1744 2558 35612 37579)												0													73	77	76					9																	131337616		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.643C>G	9.37:g.131337616C>G	ENSP00000361816:p.Leu215Val		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.L215V	ENST00000372731.4	37	c.643	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501445	0.85176	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.63255	-0.03;-0.03;-0.03	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84311	0.5444	M	0.91612	3.225	0.80722	D	1	B;D;D;P;D	0.89917	0.21;0.992;1.0;0.862;0.999	B;D;D;P;D	0.91635	0.246;0.987;0.999;0.802;0.987	D	0.86888	0.2046	10	0.72032	D	0.01	.	19.0874	0.93209	0.0:1.0:0.0:0.0	.	215;215;215;215;215	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	V	215	ENSP00000350882:L215V;ENSP00000361816:L215V;ENSP00000361824:L215V	ENSP00000350882:L215V	L	+	1	0	SPTAN1	130377437	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.202000	0.77856	2.762000	0.94881	0.467000	0.42956	CTC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.343	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	56	0	C	NM_003127		131337616	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	G	G	131337616	C	G	131337616	3	3	66	1	0	0	0	0	1	0	0	0	15164	565	20	5	657	5	SPTAN1	9	131337616	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	7670155	131337616	9875815	66	18107											
CUBN	8029	genome.wustl.edu	37	chr10	16945979	16945979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttacctgtaaaggaatacTttgcatggaatccaatgtgt	12	14	8	7	0	1	0	0	0	1	0	2	2	2	2	2	2	3	2	2	2	7	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:16945979T>C	ENST00000377833.4	-	51	8113	c.8048A>G	c.(8047-8049)aAg>aGg	p.K2683R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2683	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGGAATACTTTGCATGGAA	0.303																																																	0													44	41	42					10																	16945979		2203	4299	6502	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8048A>G	10.37:g.16945979T>C	ENSP00000367064:p.Lys2683Arg		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.K2683R	ENST00000377833.4	37	c.8048	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	0.474	-0.883048	0.02530	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.59	3.27	0.37495	CUB (5);	1.529560	0.04157	N	0.322401	T	0.09202	0.0227	N	0.03999	-0.3	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34775	-0.9815	10	0.14252	T	0.57	.	8.755	0.34639	0.0:0.2844:0.0:0.7156	.	2683	O60494	CUBN_HUMAN	R	2683	ENSP00000367064:K2683R	ENSP00000367064:K2683R	K	-	2	0	CUBN	16985985	0.000000	0.05858	0.034000	0.17996	0.265000	0.26407	0.202000	0.17295	0.499000	0.27970	0.482000	0.46254	AAG	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.303	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	28	0	T	NM_001081		16945979	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.004	C	C	16945979	T	C	16945979	3	2	66	1	0	0	0	0	1	0	0	0	4060	1609	56	4	2891	4	CUBN	10	16945979	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09		16945979	118588768	67	18108											
ACBD5	91452	genome.wustl.edu	37	chr10	27524039	27524039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatttatatcttccaataGgatcccaaaatccaggcctt	13	12	4	12	0	1	0	0	0	1	0	4	1	4	1	5	2	0	0	5	2	6	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:27524039G>T	ENST00000375888.1	-	2	342	c.278C>A	c.(277-279)cCt>cAt	p.P93H	ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000396271.3_Missense_Mutation_p.P95H|AL160291.1_ENST00000578607.1_RNA|ACBD5_ENST00000375901.1_Intron|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000375905.4_Missense_Mutation_p.P60H|ACBD5_ENST00000476758.1_Intron			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	93	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCTTCCAATAGGATCCCAAAA	0.313																																																	0													55	55	55					10																	27524039		2203	4300	6503	SO:0001583	missense	0			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.278C>A	10.37:g.27524039G>T	ENSP00000365049:p.Pro93His		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.P93H	ENST00000375888.1	37	c.278		10	.	.	.	.	.	.	.	.	.	.	G	24.8	4.565743	0.86439	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	5.49	5.49	0.81192	.	0.046449	0.85682	D	0.000000	T	0.61248	0.2332	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66567	-0.5891	10	0.52906	T	0.07	-13.4941	19.7382	0.96215	0.0:0.0:1.0:0.0	.	95;93	Q5T8D3-3;B7Z2R7	.;.	H	90;95;60;93;102;60	ENSP00000379568:P95H;ENSP00000365070:P60H;ENSP00000365049:P93H;ENSP00000401591:P102H;ENSP00000393398:P60H	ENSP00000365049:P93H	P	-	2	0	ACBD5	27564045	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.124000	0.71620	2.741000	0.93983	0.585000	0.79938	CCT	ACBD5	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	ENSG00000107897		0.313	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1		0	29	0	G	NM_145698		27524039	-1			no_errors	ENST00000375888	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	27524039	G	T	27524039	3	4	66	1	0	0	0	0	1	0	0	0	125	1000	35	3	1337	3	ACBD5	10	27524039	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	10578060	27524039	108010708	68	18109											
ZNF485	220992	genome.wustl.edu	37	chr10	44112612	44112612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacccttactggacatcagaGaattcatactggagaaaaac	17	8	7	9	0	2	2	2	0	0	2	2	5	2	3	1	2	4	0	1	2	6	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:44112612G>A	ENST00000361807.3	+	5	1315	c.1121G>A	c.(1120-1122)aGa>aAa	p.R374K	ZNF485_ENST00000374435.3_Missense_Mutation_p.R374K|ZNF485_ENST00000374437.2_Missense_Mutation_p.R283K	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGACATCAGAGAATTCATACT	0.453																																																	0													79	72	74					10																	44112612		2203	4300	6503	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1121G>A	10.37:g.44112612G>A	ENSP00000354694:p.Arg374Lys		B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R374K	ENST00000361807.3	37	c.1121	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	G	13.11	2.139398	0.37728	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.18338	2.22;2.22;2.22	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22360	0.0539	L	0.28344	0.845	0.23260	N	0.998022	P	0.39964	0.697	P	0.54889	0.763	T	0.16188	-1.0411	9	0.48119	T	0.1	.	9.7485	0.40462	0.0:0.0:1.0:0.0	.	374	Q8NCK3	ZN485_HUMAN	K	374;283;374	ENSP00000354694:R374K;ENSP00000363560:R283K;ENSP00000363558:R374K	ENSP00000354694:R374K	R	+	2	0	ZNF485	43432618	0.002000	0.14202	0.950000	0.38849	0.910000	0.53928	0.579000	0.23788	1.337000	0.45525	0.313000	0.20887	AGA	ZNF485	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.453	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	-	0	32	0	G	NM_145312		44112612	1	tier1	-	no_errors	ENST00000361807	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.999	A	A	44112612	G	A	44112612	3	1	66	1	0	0	0	0	1	0	0	0	17986	942	33	3	1135	3	ZNF485	10	44112612	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	16588573	44112612	91422135	69	18110											
KCNMA1	3778	genome.wustl.edu	37	chr10	78704644	78704644	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcatcaatattattcTgattggctgacaggataacg	14	13	8	6	1	3	2	2	2	1	0	3	3	3	3	0	2	1	2	0	2	6	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:78704644T>G	ENST00000286628.8	-	23	2788	c.2789A>C	c.(2788-2790)cAg>cCg	p.Q930P	KCNMA1_ENST00000404771.3_Missense_Mutation_p.Q930P|RP11-443A13.5_ENST00000608791.1_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000286627.5_Missense_Mutation_p.Q872P|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.Q913P|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.Q872P|KCNMA1_ENST00000354353.5_Missense_Mutation_p.Q933P|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.Q872P|KCNMA1_ENST00000406533.3_Missense_Mutation_p.Q934P	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	930					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	AATATTATTCTGATTGGCTGA	0.448																																																	0													171	136	148					10																	78704644		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2789A>C	10.37:g.78704644T>G	ENSP00000286628:p.Gln930Pro		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.Q934P	ENST00000286628.8	37	c.2801		10	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763706	0.31228	.	.	ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.74	5.74	0.90152	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	N	0.14661	0.345	0.80722	D	1	D;B;B;B;B;B;B;B	0.65815	0.995;0.013;0.003;0.002;0.003;0.002;0.092;0.013	D;B;B;B;B;B;B;B	0.66979	0.948;0.017;0.01;0.005;0.021;0.005;0.039;0.017	T	0.50499	-0.8821	10	0.28530	T	0.3	-10.7772	16.0356	0.80625	0.0:0.0:0.0:1.0	.	901;875;913;930;872;683;933;872	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.;.;.;KCMA1_HUMAN;.;.;.;.	P	872;809;865;904;867;872;872;904;934;933;913;683	ENSP00000361517:Q872P;ENSP00000361485:Q809P;ENSP00000361514:Q865P;ENSP00000396608:Q904P;ENSP00000361520:Q872P;ENSP00000286627:Q872P;ENSP00000385552:Q934P;ENSP00000346321:Q933P;ENSP00000385806:Q913P	ENSP00000286627:Q872P	Q	-	2	0	KCNMA1	78374650	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.953000	0.87836	2.187000	0.69744	0.528000	0.53228	CAG	KCNMA1	-	NULL	ENSG00000156113		0.448	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	82	0	T	NM_002247		78704644	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	13.04	60	9	SNP	1.000	G	G	78704644	T	G	78704644	3	3	66	1	0	0	0	0	1	0	0	0	8100	1580	55	4	974	4	KCNMA1	10	78704644	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	34592032	78704644	56830103	70	18111											
PLCE1	51196	genome.wustl.edu	37	chr10	95892064	95892064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttaaagcaatgtgtccGagacactgtatgtgagtatc	12	12	10	7	1	0	2	0	1	0	1	2	3	1	2	1	0	2	4	1	0	5	3	rs140876132		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:95892064G>T	ENST00000371380.3	+	2	1575	c.1340G>T	c.(1339-1341)cGa>cTa	p.R447L	PLCE1_ENST00000260766.3_Missense_Mutation_p.R447L|PLCE1_ENST00000371385.3_Missense_Mutation_p.R139L|PLCE1_ENST00000371375.1_Missense_Mutation_p.R139L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	447					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAATGTGTCCGAGACACTGTA	0.502																																																	0													157	159	159					10																	95892064		2100	4232	6332	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1340G>T	10.37:g.95892064G>T	ENSP00000360431:p.Arg447Leu		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R447L	ENST00000371380.3	37	c.1340	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	6.935	0.542267	0.13250	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.84	-4.13	0.03904	Ras guanine nucleotide exchange factor, domain (1);	0.583037	0.14665	N	0.305688	T	0.14614	0.0353	N	0.19112	0.55	0.18873	N	0.999983	B;B;B	0.23249	0.049;0.082;0.049	B;B;B	0.25987	0.044;0.065;0.044	T	0.14896	-1.0456	10	0.72032	D	0.01	.	2.9703	0.05920	0.4662:0.2043:0.2348:0.0947	.	447;139;447	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	447;447;139;139	ENSP00000260766:R447L;ENSP00000360431:R447L;ENSP00000360438:R139L;ENSP00000360426:R139L	ENSP00000260766:R447L	R	+	2	0	PLCE1	95882054	0.000000	0.05858	0.033000	0.17914	0.088000	0.18126	-0.820000	0.04457	-0.772000	0.04602	-0.251000	0.11542	CGA	PLCE1	-	superfamily_Ras_GEF_dom	ENSG00000138193		0.502	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3		0	52	0	G	NM_016341		95892064	1			no_errors	ENST00000260766	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.006	T	T	95892064	G	T	95892064	3	4	66	1	0	0	0	0	1	0	0	0	12073	1058	37	2	1632	2	PLCE1	10	95892064	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	17187420	95892064	39642683	71	18112											
ITPRIP	85450	genome.wustl.edu	37	chr10	106074541	106074541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgagcccgctgggaccGgtcaggcggctctgcttgga	4	8	16	13	3	2	1	1	1	1	0	2	3	2	3	2	5	3	4	2	5	0	1	rs528588716		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr10:106074541G>A	ENST00000337478.1	-	2	1440	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Silent_p.T423T|ITPRIP_ENST00000278071.2_Silent_p.T423T	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	423						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGCTGGGACCGGTCAGGCGGC	0.662													G|||	1	0.000199681	0	0.0014	5008	,	,		18299	0		0	False		,,,				2504	0																0													24	27	26					10																	106074541		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"KIAA1754", "inositol 1,4,5-triphosphate receptor interacting protein"	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1269C>T	10.37:g.106074541G>A			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	NULL	p.T423	ENST00000337478.1	37	c.1269	CCDS7557.1	10																																																																																			ITPRIP	-	NULL	ENSG00000148841		0.662	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0	34	0	G	NM_033397		106074541	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.914	A	A	106074541	G	A	106074541	2	1	66	1	0	0	0	0	0	0	0	1	7950	1103	39	1		1	ITPRIP	10	106074541	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	10182477	106074541	29460206	72	18113											
TRPM5	10078	genome.wustl.edu	37	chr11	2426270	2426270	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctcgccacagtgctgaGagcctgctgggaaggaaggc	8	7	14	12	1	0	1	0	1	0	1	2	4	1	3	3	3	3	2	3	3	2	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:2426270G>C	ENST00000333256.6	+	0	1686				TRPM5_ENST00000155858.6_Missense_Mutation_p.S1132C|TRPM5_ENST00000533060.1_Missense_Mutation_p.S1140C|TRPM5_ENST00000528453.1_Missense_Mutation_p.S1133C|TRPM5_ENST00000452833.1_Missense_Mutation_p.S1134C|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4											endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGCTGAGAGCCTGCTGG	0.672																																																	0													27	28	28					11																	2426270		2201	4296	6497	SO:0001628	intergenic_variant	0			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895		11.37:g.2426270G>C			C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S1134C	ENST00000333256.6	37	c.3401	CCDS7735.1	11	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038964	0.35989	.	.	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.63255	0.13;0.07;0.07;-0.03;0.07	2.43	2.43	0.29744	.	1.163180	0.06757	U	0.781091	T	0.60971	0.2310	L	0.36672	1.1	0.09310	N	1	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.50490	0.642;0.521;0.521	T	0.53308	-0.8457	10	0.72032	D	0.01	-0.2496	8.4801	0.33038	0.0:0.0:1.0:0.0	.	1140;1134;1132	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	C	1126;1132;1134;1140;1133	ENSP00000434383:S1126C;ENSP00000155858:S1132C;ENSP00000387965:S1134C;ENSP00000434121:S1140C;ENSP00000436809:S1133C	ENSP00000155858:S1132C	S	-	2	0	TRPM5	2382846	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.605000	0.24179	1.671000	0.50874	0.491000	0.48974	TCT	TRPM5	-	NULL	ENSG00000070985		0.672	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM5	HGNC	protein_coding	OTTHUMT00000027369.3	-	0	123	0	G	NM_005706		2426270	-1	tier1	-	no_errors	ENST00000452833	ensembl	human	known	74_37	missense	8.66	116	11	SNP	0.005	C	C	2426270	G	C	2426270	1	2	66	0	1	0	0	0	0	0	0	0	16637	942	33	5		5	TRPM5	11	2426270	IGR	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		2426270	132580246	73	18114											
OR51S1	119692	genome.wustl.edu	37	chr11	4869959	4869959	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggcagatggagacccagGcatcgaaaagaaatggccag	15	3	15	8	1	0	3	0	0	0	3	1	5	0	3	2	5	0	2	2	5	3	0	rs140920607		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:4869959G>T	ENST00000322101.2	-	1	555	c.480C>A	c.(478-480)tgC>tgA	p.C160*	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C160*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGAGACCCAGGCATCGAAAAG	0.552																																																	1	Substitution - Nonsense(1)	lung(1)											102	102	102					11																	4869959		2201	4298	6499	SO:0001587	stop_gained	0			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.480C>A	11.37:g.4869959G>T	ENSP00000322754:p.Cys160*		B9EGZ1|Q6IFI2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C160*	ENST00000322101.2	37	c.480	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403386	0.62288	.	.	ENSG00000176922	ENST00000322101	.	.	.	5.25	-1.31	0.09230	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-12.368	9.7531	0.40487	0.5186:0.0:0.4814:0.0	.	.	.	.	X	160	.	ENSP00000322754:C160X	C	-	3	2	OR51S1	4826535	0.000000	0.05858	0.973000	0.42090	0.649000	0.38597	-0.461000	0.06712	-0.100000	0.12241	0.655000	0.94253	TGC	OR51S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176922		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1		0	63	0	G	NM_001004758		4869959	-1			no_errors	ENST00000322101	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.019	T	T	4869959	G	T	4869959	4	4	66	1	0	0	0	0	0	1	0	0	11144	1195	42	3	494	3	OR51S1	11	4869959	Nonsense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	2443689	4869959	130136557	74	18115											
OR2AG2	338755	genome.wustl.edu	37	chr11	6789525	6789525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacgaagcacagtgaataGgactagtgtgtaggaggcca	14	7	13	7	1	0	1	0	1	0	0	0	4	0	3	1	3	2	2	1	3	6	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:6789525G>C	ENST00000338569.2	-	1	761	c.664C>G	c.(664-666)Cta>Gta	p.L222V		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGTGAATAGGACTAGTGTG	0.498																																																	0													88	78	81					11																	6789525		2201	4296	6497	SO:0001583	missense	0			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.664C>G	11.37:g.6789525G>C	ENSP00000342697:p.Leu222Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L222V	ENST00000338569.2	37	c.664	CCDS31413.1	11	.	.	.	.	.	.	.	.	.	.	G	5.492	0.275867	0.10403	.	.	ENSG00000188124	ENST00000338569	T	0.00188	8.59	4.47	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001347	T	0.00271	0.0008	L	0.45228	1.405	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.52719	-0.8538	10	0.87932	D	0	.	1.999	0.03463	0.1766:0.1554:0.508:0.16	.	222	A6NM03	O2AG2_HUMAN	V	222	ENSP00000342697:L222V	ENSP00000342697:L222V	L	-	1	2	OR2AG2	6746101	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.186000	0.00566	0.367000	0.24454	-0.137000	0.14449	CTA	OR2AG2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188124		0.498	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG2	HGNC	protein_coding	OTTHUMT00000386775.1	-	0	82	0	G	NM_001004490		6789525	-1	tier1	-	no_errors	ENST00000338569	ensembl	human	known	74_37	missense	13.19	79	12	SNP	0.001	C	C	6789525	G	C	6789525	3	2	66	1	0	0	0	0	1	0	0	0	11024	991	35	5	290	5	OR2AG2	11	6789525	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	1919566	6789525	128216991	75	18116											
MUC15	143662	genome.wustl.edu	37	chr11	26586795	26586795	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagagttgttttttcttgaTaaggggtaaacccagtgaag	11	14	12	4	0	1	3	0	2	1	1	1	3	1	3	1	2	1	4	1	2	5	8			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:26586795T>A	ENST00000455601.2	-	2	729	c.611A>T	c.(610-612)tAt>tTt	p.Y204F	ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.Y231F|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.Y231F|MUC15_ENST00000529533.1_Missense_Mutation_p.Y231F|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.Y231F	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	204					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTTTTCTTGATAAGGGGTAAA	0.388																																																	0													133	134	133					11																	26586795		2203	4300	6503	SO:0001583	missense	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.611A>T	11.37:g.26586795T>A	ENSP00000397339:p.Tyr204Phe		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.Y231F	ENST00000455601.2	37	c.692	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	T	16.06	3.014580	0.54468	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.29142	1.82;1.8;1.58;1.8;1.58	4.24	3.13	0.36017	.	0.309682	0.23524	N	0.047247	T	0.40619	0.1124	L	0.46157	1.445	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.74674	0.984;0.937;0.937	T	0.07654	-1.0761	10	0.42905	T	0.14	-9.5414	5.6247	0.17477	0.0:0.1199:0.0:0.8801	.	231;204;231	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	F	204;231;231;231;231	ENSP00000397339:Y204F;ENSP00000416753:Y231F;ENSP00000281268:Y231F;ENSP00000431983:Y231F;ENSP00000431945:Y231F	ENSP00000281268:Y231F	Y	-	2	0	MUC15	26543371	0.213000	0.23551	0.078000	0.20375	0.095000	0.18619	1.321000	0.33678	1.866000	0.54105	0.528000	0.53228	TAT	MUC15	-	NULL	ENSG00000169550		0.388	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	-	0	131	0	T	NM_145650		26586795	-1	tier1	-	no_errors	ENST00000436318	ensembl	human	known	74_37	missense	13.53	115	18	SNP	0.034	A	A	26586795	T	A	26586795	3	1	66	1	0	0	0	0	1	0	0	0	10010	1406	49	5	405	5	MUC15	11	26586795	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	19797270	26586795	108419721	76	18117											
CCDC73	493860	genome.wustl.edu	37	chr11	32635220	32635220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcaaaggttgaccttcCgcttctgtttactaaatctc	11	14	6	10	1	3	2	1	1	2	1	5	2	4	2	2	1	1	3	2	1	5	6	rs201070131		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:32635220C>T	ENST00000335185.5	-	16	2687	c.2644G>A	c.(2644-2646)Gga>Aga	p.G882R	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	882										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTTGACCTTCCGCTTCTGTTT	0.368																																																	0													146	139	142					11																	32635220		1837	4082	5919	SO:0001583	missense	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2644G>A	11.37:g.32635220C>T	ENSP00000335325:p.Gly882Arg		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.G882R	ENST00000335185.5	37	c.2644	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459932	0.84317	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.49	5.49	0.81192	.	0.207947	0.33670	N	0.004666	T	0.73753	0.3627	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.75883	-0.3160	9	0.87932	D	0	.	17.5512	0.87876	0.0:1.0:0.0:0.0	.	882	Q6ZRK6	CCD73_HUMAN	R	882	.	ENSP00000335325:G882R	G	-	1	0	CCDC73	32591796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.257000	0.51500	2.568000	0.86640	0.650000	0.86243	GGA	CCDC73	-	NULL	ENSG00000186714		0.368	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	-	0	67	0	C	NM_001008391		32635220	-1	tier1	rs201070131	no_errors	ENST00000335185	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T	T	32635220	C	T	32635220	3	4	66	1	0	0	0	0	1	0	0	0	2853	661	23	1	607	1	CCDC73	11	32635220	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	6048425	32635220	102371296	77	18118											
CHRM4	1132	genome.wustl.edu	37	chr11	46407375	46407375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcattagtgggctcttgaGgaaggccagcgtcttggctt	6	13	13	9	1	3	1	1	1	2	0	3	2	3	2	1	4	1	2	1	4	2	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:46407375G>A	ENST00000433765.2	-	1	732	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	245					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGGCTCTTGAGGAAGGCCAGC	0.672																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)												0													18	20	19					11																	46407375		1949	4139	6088	SO:0001583	missense	0			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1953	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 4"	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.733C>T	11.37:g.46407375G>A	ENSP00000409378:p.Leu245Phe		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_M4_rcpt	p.L245F	ENST00000433765.2	37	c.733	CCDS44581.1	11	.	.	.	.	.	.	.	.	.	.	G	3.479	-0.106388	0.06924	.	.	ENSG00000180720	ENST00000433765	T	0.60424	0.19	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41581	0.1165	L	0.28458	0.855	0.35258	D	0.779308	B	0.10296	0.003	B	0.15052	0.012	T	0.47898	-0.9081	9	0.37606	T	0.19	0.001	5.9801	0.19403	0.1389:0.0:0.69:0.1711	.	245	P08173	ACM4_HUMAN	F	245	ENSP00000409378:L245F	ENSP00000409378:L245F	L	-	1	0	CHRM4	46363951	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	1.800000	0.38833	2.346000	0.79739	0.462000	0.41574	CTC	CHRM4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180720		0.672	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	-	0	76	0	G	NM_000741		46407375	-1	tier1	-	no_errors	ENST00000433765	ensembl	human	known	74_37	missense	10.59	76	9	SNP	1.000	A	A	46407375	G	A	46407375	3	1	66	1	0	0	0	0	1	0	0	0	3386	1000	35	3	710	3	CHRM4	11	46407375	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	13772155	46407375	88599141	78	18119											
OR8K1	390157	genome.wustl.edu	37	chr11	56113842	56113842	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccactcagctagcattcTttgagattttcatcatctct	9	16	5	11	0	5	1	3	1	2	1	6	2	5	1	1	0	3	2	1	0	1	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:56113842T>G	ENST00000279783.2	+	1	422	c.328T>G	c.(328-330)Ttt>Gtt	p.F110V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F110V(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GCTAGCATTCTTTGAGATTTT	0.408										HNSCC(65;0.19)																																							1	Substitution - Missense(1)	large_intestine(1)											180	181	181					11																	56113842		2201	4296	6497	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"GPCR / Class A : Olfactory receptors"	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.328T>G	11.37:g.56113842T>G	ENSP00000279783:p.Phe110Val		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F110V	ENST00000279783.2	37	c.328	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092695	0.36952	.	.	ENSG00000150261	ENST00000279783	T	0.00377	7.69	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	T	0.00328	0.0010	M	0.63428	1.95	0.09310	N	1	P	0.45474	0.859	B	0.37833	0.259	T	0.52155	-0.8613	10	0.72032	D	0.01	-22.2381	9.2	0.37251	0.0:0.1335:0.0:0.8665	.	110	Q8NGG5	OR8K1_HUMAN	V	110	ENSP00000279783:F110V	ENSP00000279783:F110V	F	+	1	0	OR8K1	55870418	0.756000	0.28383	0.630000	0.29268	0.991000	0.79684	1.479000	0.35453	1.862000	0.54008	0.448000	0.29417	TTT	OR8K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000150261		0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	-	0	37	0	T	NM_001002907		56113842	1	tier1	-	no_errors	ENST00000279783	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.001	G	G	56113842	T	G	56113842	3	3	66	1	0	0	0	0	1	0	0	0	11282	1609	56	4	330	4	OR8K1	11	56113842	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	9706467	56113842	78892674	79	18120											
OR5AN1	390195	genome.wustl.edu	37	chr11	59132150	59132150	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccttcatagatgtctgCtatatcagctccacagtccc	8	13	6	14	0	3	1	2	0	1	1	6	1	6	1	3	0	2	2	3	0	3	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:59132150C>A	ENST00000313940.2	+	1	266	c.219C>A	c.(217-219)tgC>tgA	p.C73*		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TAGATGTCTGCTATATCAGCT	0.418																																																	0													186	177	180					11																	59132150		2201	4295	6496	SO:0001587	stop_gained	0			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"GPCR / Class A : Olfactory receptors"	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.219C>A	11.37:g.59132150C>A	ENSP00000320302:p.Cys73*		B9EIS2|Q6IEV4	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C73*	ENST00000313940.2	37	c.219	CCDS31559.1	11	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627339	0.66901	.	.	ENSG00000176495	ENST00000313940	.	.	.	4.42	4.42	0.53409	.	0.109406	0.41938	D	0.000800	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.501	15.9406	0.79750	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000320302:C73X	C	+	3	2	OR5AN1	58888726	0.003000	0.15002	0.774000	0.31636	0.544000	0.35116	0.229000	0.17833	2.150000	0.67090	0.655000	0.94253	TGC	OR5AN1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176495		0.418	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	-	0	63	0	C	NM_001004729		59132150	1	tier1	-	no_errors	ENST00000313940	ensembl	human	known	74_37	nonsense	22.95	47	14	SNP	0.846	A	A	59132150	C	A	59132150	4	1	66	1	0	0	0	0	0	1	0	0	11182	805	28	3	221	3	OR5AN1	11	59132150	Nonsense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	3018308	59132150	75874366	80	18121											
ALDH3B1	221	genome.wustl.edu	37	chr11	67787219	67787219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctgggcgggccccaggaGacggggcagctgctagagca	7	4	19	11	2	0	2	0	0	0	2	0	3	0	2	2	5	4	5	2	5	1	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:67787219G>C	ENST00000539229.1	+	7	629	c.513G>C	c.(511-513)gaG>gaC	p.E171D	ALDH3B1_ENST00000007633.8_Missense_Mutation_p.E171D|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Missense_Mutation_p.E171D|ALDH3B1_ENST00000342456.6_Missense_Mutation_p.E135D	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	172					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GGCCCCAGGAGACGGGGCAGC	0.657																																																	0													88	102	97					11																	67787219		2199	4294	6493	SO:0001583	missense	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"Aldehyde dehydrogenases"	410	protein-coding gene	gene with protein product	"aldehyde dehydrogenase 7", "aldehyde dehydrogenase 3B1"	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.513G>C	11.37:g.67787219G>C	ENSP00000474034:p.Glu171Asp		A3FMP9|Q53XL5|Q8N515|Q96CK8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.E171D	ENST00000539229.1	37	c.513		11																																																																																			ALDH3B1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000006534		0.657	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		-	0	142	0	G	NM_000694		67787219	1	tier1	-	no_errors	ENST00000007633	ensembl	human	known	74_37	missense	17.76	125	27	SNP	0.993	C	C	67787219	G	C	67787219	3	2	66	1	0	0	0	0	1	0	0	0	499	933	33	5	533	5	ALDH3B1	11	67787219	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	8655069	67787219	67219297	81	18122											
FZD4	8322	genome.wustl.edu	37	chr11	86662616	86662616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaccaaataagtaaagagGggagccaccacgaacccggt	16	4	11	10	2	0	2	0	1	0	1	0	4	0	3	4	3	2	1	4	3	5	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:86662616G>A	ENST00000531380.1	-	2	1487	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	394					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGTAAAGAGGGGAGCCACCA	0.453																																																	0													114	108	110					11																	86662616		2201	4299	6500	SO:0001819	synonymous_variant	0			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"GPCR / Class F : Frizzled receptors", "CD molecules"	4042	protein-coding gene	gene with protein product		604579	"frizzled (Drosophila) homolog 4", "exudative vitreoretinopathy 1", "frizzled homolog 4 (Drosophila)", "frizzled 4, seven transmembrane spanning receptor", "frizzled family receptor 4"	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1182C>T	11.37:g.86662616G>A			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.P394	ENST00000531380.1	37	c.1182	CCDS8279.1	11																																																																																			FZD4	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000174804		0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	-	0	42	0	G	NM_012193		86662616	-1	tier1	-	no_errors	ENST00000531380	ensembl	human	known	74_37	silent	26.23	45	16	SNP	0.006	A	A	86662616	G	A	86662616	2	1	66	1	0	0	0	0	0	0	0	1	6156	1219	43	3		3	FZD4	11	86662616	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	18875397	86662616	48343900	82	18123											
GRM5	2915	genome.wustl.edu	37	chr11	88300675	88300675	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaggtagacttctcgaaTgcttgggtagtcatgcatta	10	13	11	7	1	3	1	2	0	1	1	4	3	3	1	0	2	2	4	0	2	4	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:88300675T>A	ENST00000305447.4	-	7	2325	c.2176A>T	c.(2176-2178)Att>Ttt	p.I726F	GRM5_ENST00000393297.1_Missense_Mutation_p.I726F|GRM5_ENST00000305432.5_Missense_Mutation_p.I726F|GRM5_ENST00000418177.2_Missense_Mutation_p.I726F|GRM5_ENST00000455756.2_Missense_Mutation_p.I726F	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	726					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACTTCTCGAATGCTTGGGTAG	0.448																																																	0													160	135	143					11																	88300675		2201	4299	6500	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4597	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 86"	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2176A>T	11.37:g.88300675T>A	ENSP00000306138:p.Ile726Phe		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.I726F	ENST00000305447.4	37	c.2176	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709775	0.68730	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.58	5.58	0.84498	GPCR, family 3, C-terminal (2);	0.088804	0.85682	D	0.000000	D	0.88104	0.6347	N	0.20483	0.58	0.58432	D	0.999994	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.958	D	0.87451	0.2401	9	.	.	.	.	15.7446	0.77929	0.0:0.0:0.0:1.0	.	726;726	P41594-2;P41594	.;GRM5_HUMAN	F	726	ENSP00000402912:I726F;ENSP00000405690:I726F;ENSP00000305905:I726F;ENSP00000306138:I726F;ENSP00000376975:I726F	.	I	-	1	0	GRM5	87940323	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.186000	0.72026	2.133000	0.65898	0.459000	0.35465	ATT	GRM5	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000168959		0.448	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1		0	68	0	T	NM_000842		88300675	-1			no_errors	ENST00000305447	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	88300675	T	A	88300675	3	1	66	1	0	0	0	0	1	0	0	0	6827	1464	51	5	1474	5	GRM5	11	88300675	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	1638059	88300675	46705841	83	18124											
TMPRSS4	56649	genome.wustl.edu	37	chr11	117988062	117988062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccaatctgaccagtggCatgtggtgggcatcgttagt	8	12	13	8	1	1	1	0	1	1	0	2	1	1	1	2	3	1	4	2	3	3	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr11:117988062C>T	ENST00000437212.3	+	12	1409	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	TMPRSS4_ENST00000522307.1_Missense_Mutation_p.H252Y|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.H359Y|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.H394Y|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.H397Y|TMPRSS4_ENST00000518413.2_3'UTR			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	399	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGACCAGTGGCATGTGGTGGG	0.592																																																	0													176	150	159					11																	117988062		2200	4296	6496	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1195C>T	11.37:g.117988062C>T	ENSP00000416037:p.His399Tyr		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.H399Y	ENST00000437212.3	37	c.1195	CCDS31684.1	11	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340315	0.41398	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32	5.06	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.241492	0.29106	N	0.013129	T	0.18841	0.0452	N	0.00325	-1.645	0.21933	N	0.999461	B;B;B;B;B	0.25667	0.131;0.014;0.069;0.004;0.096	B;B;B;B;B	0.28139	0.036;0.033;0.016;0.021;0.086	T	0.36672	-0.9738	10	0.02654	T	1	.	9.6117	0.39668	0.1604:0.6847:0.1548:0.0	.	374;359;252;399;397	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	Y	397;252;359;399;394	ENSP00000435184:H397Y;ENSP00000428814:H252Y;ENSP00000429209:H359Y;ENSP00000416037:H399Y;ENSP00000430547:H394Y	ENSP00000416037:H399Y	H	+	1	0	TMPRSS4	117493272	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	1.277000	0.33167	1.095000	0.41419	0.563000	0.77884	CAT	TMPRSS4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000137648		0.592	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	-	0	55	0	C	NM_019894		117988062	1	tier1	-	no_errors	ENST00000437212	ensembl	human	known	74_37	missense	37.93	36	22	SNP	1.000	T	T	117988062	C	T	117988062	3	4	66	1	0	0	0	0	1	0	0	0	16296	710	25	3	1241	3	TMPRSS4	11	117988062	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	29687387	117988062	17018454	84	18125											
TMEM106C	79022	genome.wustl.edu	37	chr12	48361947	48361947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttcatacattggcctcAtgacccagagctccttggag	10	11	9	11	0	2	3	2	1	0	2	3	4	3	4	3	2	2	1	3	2	1	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:48361947A>G	ENST00000429772.2	+	8	801	c.688A>G	c.(688-690)Atg>Gtg	p.M230V	TMEM106C_ENST00000552546.1_Missense_Mutation_p.M159V|TMEM106C_ENST00000550552.1_Missense_Mutation_p.M211V|TMEM106C_ENST00000256686.6_Missense_Mutation_p.M211V|TMEM106C_ENST00000449758.2_Missense_Mutation_p.M211V|TMEM106C_ENST00000549288.1_3'UTR|TMEM106C_ENST00000552561.1_Missense_Mutation_p.M230V	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	230						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		CATTGGCCTCATGACCCAGAG	0.418																																																	0													126	116	120					12																	48361947		2203	4300	6503	SO:0001583	missense	0			BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.688A>G	12.37:g.48361947A>G	ENSP00000400471:p.Met230Val		B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.M230V	ENST00000429772.2	37	c.688	CCDS8758.1	12	.	.	.	.	.	.	.	.	.	.	A	0.061	-1.224573	0.01530	.	.	ENSG00000134291	ENST00000256686;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	4.46	-1.78	0.07957	.	0.632911	0.17139	N	0.185521	T	0.07279	0.0184	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40459	-0.9562	10	0.08179	T	0.78	-13.3527	10.5755	0.45225	0.5037:0.0:0.4963:0.0	.	230;211	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	V	211;230;159;211;230;211;140	ENSP00000256686:M211V;ENSP00000446657:M230V;ENSP00000448268:M159V;ENSP00000449737:M211V;ENSP00000400471:M230V;ENSP00000402705:M211V;ENSP00000447254:M140V	ENSP00000256686:M211V	M	+	1	0	TMEM106C	46648214	0.000000	0.05858	0.063000	0.19743	0.995000	0.86356	-0.713000	0.05007	-0.311000	0.08754	0.460000	0.39030	ATG	TMEM106C	-	pfam_DUF1356_TMEM106	ENSG00000134291		0.418	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106C	HGNC	protein_coding	OTTHUMT00000406452.1	-	0	20	0	A	NM_024056		48361947	1	tier1	-	no_errors	ENST00000429772	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.013	G	G	48361947	A	G	48361947	3	3	66	1	0	0	0	0	1	0	0	0	16069	217	8	4	714	4	TMEM106C	12	48361947	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09		48361947	85489948	85	18126											
LIMA1	51474	genome.wustl.edu	37	chr12	50571452	50571452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcttgctgatttcgtcttCaggaggccatttgggctttg	4	15	14	8	1	2	1	1	1	1	0	3	2	2	2	1	4	1	3	1	4	0	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:50571452C>T	ENST00000341247.4	-	11	1824	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	LIMA1_ENST00000394943.3_Missense_Mutation_p.E560K|LIMA1_ENST00000552491.1_Missense_Mutation_p.E256K|LIMA1_ENST00000552909.1_Missense_Mutation_p.E398K|LIMA1_ENST00000552823.1_Missense_Mutation_p.E399K|LIMA1_ENST00000547825.1_Missense_Mutation_p.E257K|LIMA1_ENST00000552783.1_Missense_Mutation_p.E400K	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	559					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ATTTCGTCTTCAGGAGGCCAT	0.507																																																	0													127	126	127					12																	50571452		2203	4300	6503	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1675G>A	12.37:g.50571452C>T	ENSP00000340184:p.Glu559Lys		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E560K	ENST00000341247.4	37	c.1678	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953732	0.92660	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	D;D;D;D;D;D;D	0.89939	-1.82;-1.81;-2.2;-2.59;-1.84;-2.2;-2.21	5.49	5.49	0.81192	.	0.110110	0.64402	D	0.000008	D	0.94275	0.8161	M	0.75777	2.31	0.54753	D	0.999984	P;D;D	0.76494	0.943;0.999;0.992	P;D;D	0.68621	0.749;0.954;0.959	D	0.94317	0.7550	10	0.72032	D	0.01	.	19.7445	0.96247	0.0:1.0:0.0:0.0	.	569;559;398	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	K	256;257;399;560;559;400;398;478	ENSP00000448463:E256K;ENSP00000448706:E257K;ENSP00000450266:E399K;ENSP00000378400:E560K;ENSP00000340184:E559K;ENSP00000448779:E400K;ENSP00000450087:E398K	ENSP00000340184:E559K	E	-	1	0	LIMA1	48857719	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.854000	0.62918	2.739000	0.93911	0.655000	0.94253	GAA	LIMA1	-	NULL	ENSG00000050405		0.507	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0	41	0	C	NM_016357		50571452	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T	T	50571452	C	T	50571452	3	4	66	1	0	0	0	0	1	0	0	0	8825	835	29	3	608	3	LIMA1	12	50571452	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	2209505	50571452	83280443	86	18127											
KRT86	3892	genome.wustl.edu	37	chr12	52695793	52695793	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcatcaccgccgccccCtaccgtggcatctcctgcta	5	9	8	19	3	2	0	1	0	1	0	3	0	2	0	6	1	4	4	6	1	2	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:52695793C>G	ENST00000423955.2	+	3	271	c.93C>G	c.(91-93)ccC>ccG	p.P31P	KRT86_ENST00000293525.5_Silent_p.P31P|KRT86_ENST00000544024.1_Silent_p.P31P			O43790	KRT86_HUMAN	keratin 86	31	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGCCGCCCCCTACCGTGGCA	0.701																																																	0													18	23	21					12																	52695793		2053	4173	6226	SO:0001819	synonymous_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"-", "Intermediate filaments type II, keratins (basic)"	6463	protein-coding gene	gene with protein product	"hard keratin type II 6"	601928	"keratin, hair, basic, 6 (monilethrix)"	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.93C>G	12.37:g.52695793C>G			P78387	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.P31	ENST00000423955.2	37	c.93	CCDS41785.1	12																																																																																			KRT86	-	NULL	ENSG00000170442		0.701	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	HGNC	protein_coding	OTTHUMT00000404911.1	-	0	52	0	C	NM_002284		52695793	1	tier1	-	no_errors	ENST00000293525	ensembl	human	known	74_37	silent	14.81	46	8	SNP	1.000	G	G	52695793	C	G	52695793	2	3	66	1	0	0	0	0	0	0	0	1	8527	668	24	5		5	KRT86	12	52695793	Silent	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	2124341	52695793	81156102	87	18128											
CD63	967	genome.wustl.edu	37	chr12	56121049	56121049	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaacagagagccaggggtAgccccctggattatggtctg	9	7	15	10	0	1	1	0	0	1	1	1	3	1	2	3	5	3	2	3	5	3	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:56121049A>G	ENST00000549117.1	-	3	577	c.141T>C	c.(139-141)gcT>gcC	p.A47A	CD63_ENST00000257857.4_Silent_p.A47A|CD63_ENST00000548898.1_5'Flank|CD63_ENST00000546939.1_5'UTR|CD63_ENST00000552692.1_Silent_p.A47A|CD63_ENST00000552754.1_Silent_p.A24A|CD63_ENST00000552067.1_5'Flank|CD63_ENST00000420846.3_Silent_p.A47A|CD63_ENST00000548160.1_5'Flank|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000550776.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	47					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						AGCCAGGGGTAGCCCCCTGGA	0.567																																					Pancreas(123;1459 1747 6717 18841 37380)												0													101	99	100					12																	56121049		2203	4300	6503	SO:0001819	synonymous_variant	0			M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"CD molecules", "Tetraspanins"	1692	protein-coding gene	gene with protein product		155740	"CD63 antigen (melanoma 1 antigen)"	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.141T>C	12.37:g.56121049A>G			F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.A47	ENST00000549117.1	37	c.141	CCDS8890.1	12																																																																																			CD63	-	pfam_Tetraspanin/Peripherin	ENSG00000135404		0.567	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD63	HGNC	protein_coding	OTTHUMT00000409234.1		0	31	0	A			56121049	-1			no_errors	ENST00000257857	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.001	G	G	56121049	A	G	56121049	2	3	66	1	0	0	0	0	0	0	0	1	3036	407	15	4		4	CD63	12	56121049	Silent	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	3425256	56121049	77730846	88	18129											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58022875	58022875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagccgagggttgggcGggtgtcttatgcggatagtg	6	10	19	6	3	1	0	0	0	1	0	1	2	1	1	1	5	3	2	1	5	3	4	rs200510000		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:58022875G>A	ENST00000341156.4	-	7	1351	c.767C>T	c.(766-768)cCg>cTg	p.P256L	B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.P201L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	256					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AGGGTTGGGCGGGTGTCTTAT	0.577																																																	0								G	LEU/PRO	0,4406		0,0,2203	68	63	65		767	4.3	0.8	12		65	5,8595		0,5,4295	yes	missense	B4GALNT1	NM_001478.3	98	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	256/534	58022875	5,13001	2203	4300	6503	SO:0001583	missense	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.767C>T	12.37:g.58022875G>A	ENSP00000341562:p.Pro256Leu		B4DE26|Q8N636	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.P256L	ENST00000341156.4	37	c.767	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	.	12.59	1.984464	0.35036	0.0	5.81E-4	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.19105	2.17;2.22	5.23	4.34	0.51931	.	0.456770	0.22088	N	0.064790	T	0.16896	0.0406	L	0.39147	1.195	0.28489	N	0.914586	B;B	0.15473	0.013;0.006	B;B	0.10450	0.002;0.005	T	0.13602	-1.0503	10	0.21540	T	0.41	-8.1271	10.9142	0.47126	0.0888:0.0:0.9112:0.0	.	201;256	B4DE26;Q00973	.;B4GN1_HUMAN	L	256;201	ENSP00000341562:P256L;ENSP00000401601:P201L	ENSP00000341562:P256L	P	-	2	0	B4GALNT1	56309142	0.965000	0.33210	0.819000	0.32651	0.622000	0.37654	4.056000	0.57448	1.215000	0.43411	0.655000	0.94253	CCG	B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0	64	0	G	NM_001478		58022875	-1	tier1	rs200510000	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.038	A	A	58022875	G	A	58022875	3	1	66	1	0	0	0	0	1	0	0	0	1267	1116	39	1	854	1	B4GALNT1	12	58022875	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	1901826	58022875	75829020	89	18130											
POLR3B	55703	genome.wustl.edu	37	chr12	106831541	106831541	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtaacattgcactgtacGaacacacaattaataagtaa	18	11	5	7	1	0	0	0	0	0	0	0	1	0	0	0	0	4	4	0	0	7	7			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr12:106831541G>T	ENST00000228347.4	+	18	2161	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	POLR3B_ENST00000539066.1_Nonsense_Mutation_p.E589*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	647			Missing (in HLD8). {ECO:0000269|PubMed:22036171}.		defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGCACTGTACGAACACACAAT	0.328																																																	0													78	76	77					12																	106831541		2202	4300	6502	SO:0001587	stop_gained	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1939G>T	12.37:g.106831541G>T	ENSP00000228347:p.Glu647*		A8K6H0|B3KV73|F5H1E6|Q9NW59	Nonsense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.E647*	ENST00000228347.4	37	c.1939	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	G	41	8.810072	0.98962	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-21.6053	20.1162	0.97934	0.0:0.0:1.0:0.0	.	.	.	.	X	647;647;589	.	ENSP00000228347:E647X	E	+	1	0	POLR3B	105355671	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.252000	0.95491	2.756000	0.94617	0.655000	0.94253	GAA	POLR3B	-	pfam_RNA_pol_Rpb2_5	ENSG00000013503		0.328	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1		0	26	0	G	NM_018082		106831541	1			no_errors	ENST00000228347	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	T	T	106831541	G	T	106831541	4	4	66	1	0	0	0	0	0	1	0	0	12268	1059	37	2	2009	2	POLR3B	12	106831541	Nonsense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	48808666	106831541	27020354	90	18131											
RNF17	56163	genome.wustl.edu	37	chr13	25442743	25442743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggtgttttaggaattGctttcggctgaaacagacac	9	14	11	7	1	1	2	0	1	1	1	2	3	1	3	0	3	2	3	0	3	3	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:25442743G>C	ENST00000255324.5	+	31	4219	c.4167G>C	c.(4165-4167)ttG>ttC	p.L1389F	RNF17_ENST00000381921.1_Missense_Mutation_p.L1347F|RNF17_ENST00000339524.3_Missense_Mutation_p.L399F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1389					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTAGGAATTGCTTTCGGCTG	0.358																																																	0													147	141	143					13																	25442743		2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4167G>C	13.37:g.25442743G>C	ENSP00000255324:p.Leu1389Phe		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.L1389F	ENST00000255324.5	37	c.4167	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923476	0.52653	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000418120;ENST00000339524	T;T;T;T	0.26810	3.3;3.28;2.53;1.71	5.93	2.64	0.31445	.	0.304528	0.23666	N	0.045776	T	0.37073	0.0990	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.74674	0.942;0.973;0.984;0.973	T	0.19321	-1.0309	10	0.27785	T	0.31	-3.9366	3.9762	0.09475	0.3629:0.0:0.4795:0.1576	.	1385;399;1383;1389	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	F	1389;1347;713;399	ENSP00000255324:L1389F;ENSP00000371346:L1347F;ENSP00000388892:L713F;ENSP00000344776:L399F	ENSP00000255324:L1389F	L	+	3	2	RNF17	24340743	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	0.440000	0.21592	0.784000	0.33661	0.655000	0.94253	TTG	RNF17	-	NULL	ENSG00000132972		0.358	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	77	0	G	NM_031994		25442743	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.999	C	C	25442743	G	C	25442743	3	2	66	1	0	0	0	0	1	0	0	0	13506	1310	46	5	4289	5	RNF17	13	25442743	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		25442743	89727135	91	18132											
ATP8A2	51761	genome.wustl.edu	37	chr13	26343263	26343263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctcgccatcggagacGgcgccaacgatgtcgggatg	8	6	13	14	6	1	1	1	0	0	1	4	4	1	2	3	3	1	0	3	3	1	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:26343263G>A	ENST00000381655.2	+	26	2606	c.2464G>A	c.(2464-2466)Ggc>Agc	p.G822S	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G782S|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	782					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CATCGGAGACGGCGCCAACGA	0.562																																																	0													95	101	99					13																	26343263		2130	4224	6354	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2464G>A	13.37:g.26343263G>A	ENSP00000371070:p.Gly822Ser		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G822S	ENST00000381655.2	37	c.2464	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.548552	0.96488	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.64260	-0.09;-0.09	6.17	6.17	0.99709	HAD-like domain (2);	0.049028	0.85682	D	0.000000	D	0.87916	0.6298	H	0.97564	4.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.90785	0.4682	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	782;602;782	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	S	822;782;602	ENSP00000371070:G822S;ENSP00000255283:G782S	ENSP00000255283:G782S	G	+	1	0	ATP8A2	25241263	1.000000	0.71417	0.976000	0.42696	0.803000	0.45373	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGC	ATP8A2	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000132932		0.562	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	-	0	73	0	G	NM_016529		26343263	1	tier1	-	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	A	A	26343263	G	A	26343263	3	1	66	1	0	0	0	0	1	0	0	0	1194	1116	39	1	2566	1	ATP8A2	13	26343263	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	900520	26343263	88826615	92	18133											
SLITRK1	114798	genome.wustl.edu	37	chr13	84454666	84454666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcctggagctacccgtcGctatcgctgctgtgggtctg	3	13	13	12	3	1	0	0	0	1	0	4	1	2	1	2	2	3	5	2	2	2	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:84454666G>T	ENST00000377084.2	-	1	1862	c.977C>A	c.(976-978)gCg>gAg	p.A326E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	326					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.A326V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCTACCCGTCGCTATCGCTGC	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											77	76	76					13																	84454666		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.977C>A	13.37:g.84454666G>T	ENSP00000366288:p.Ala326Glu		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A326E	ENST00000377084.2	37	c.977	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	8.898	0.955563	0.18507	.	.	ENSG00000178235	ENST00000377084	T	0.58506	0.33	4.85	4.0	0.46444	.	0.191486	0.47455	D	0.000232	T	0.40932	0.1137	N	0.20986	0.625	0.36169	D	0.848637	B	0.12630	0.006	B	0.20767	0.031	T	0.38929	-0.9638	10	0.14252	T	0.57	-4.5496	12.2747	0.54728	0.0:0.1712:0.8288:0.0	.	326	Q96PX8	SLIK1_HUMAN	E	326	ENSP00000366288:A326E	ENSP00000366288:A326E	A	-	2	0	SLITRK1	83352667	1.000000	0.71417	0.864000	0.33941	0.982000	0.71751	4.888000	0.63164	1.258000	0.44101	0.555000	0.69702	GCG	SLITRK1	-	NULL	ENSG00000178235		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0	33	0	G	NM_052910		84454666	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.842	T	T	84454666	G	T	84454666	3	4	66	1	0	0	0	0	1	0	0	0	14787	1087	38	2	1117	2	SLITRK1	13	84454666	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	58111403	84454666	30715212	93	18134											
COL4A2	1284	genome.wustl.edu	37	chr13	111145564	111145564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacccccgcaggttttcCgggactccgtgggatccgcg	5	8	13	15	5	0	1	0	1	0	0	3	3	3	3	5	3	0	2	5	3	0	2	rs199782906	byFrequency	TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr13:111145564C>T	ENST00000360467.5	+	39	3875	c.3569C>T	c.(3568-3570)cCg>cTg	p.P1190L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1190	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGGTTTTCCGGGACTCCGT	0.577													C|||	2	0.000399361	0.0015	0	5008	,	,		15829	0		0	False		,,,				2504	0																0								C	LEU/PRO	3,3777		0,3,1887	58	66	64		3569	5.3	0.1	13	dbSNP_134	64	0,8218		0,0,4109	no	missense	COL4A2	NM_001846.2	98	0,3,5996	TT,TC,CC		0.0,0.0794,0.025	probably-damaging	1190/1713	111145564	3,11995	1890	4109	5999	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3569C>T	13.37:g.111145564C>T	ENSP00000353654:p.Pro1190Leu		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1190L	ENST00000360467.5	37	c.3569	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735726	0.69189	7.94E-4	0.0	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.96685	-4.09	5.28	5.28	0.74379	.	0.113583	0.39759	N	0.001271	D	0.97911	0.9313	M	0.82056	2.57	0.53005	D	0.999964	D	0.76494	0.999	D	0.72338	0.977	D	0.98147	1.0439	10	0.51188	T	0.08	.	15.8396	0.78835	0.0:1.0:0.0:0.0	.	1190	P08572	CO4A2_HUMAN	L	1190	ENSP00000353654:P1190L	ENSP00000257309:P1190L	P	+	2	0	COL4A2	109943565	0.828000	0.29307	0.068000	0.19968	0.067000	0.16453	4.485000	0.60279	2.454000	0.82982	0.561000	0.74099	CCG	COL4A2	-	pfam_Collagen	ENSG00000134871		0.577	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2		0	46	0	C	NM_001846		111145564	1			no_errors	ENST00000360467	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.266	T	T	111145564	C	T	111145564	3	4	66	1	0	0	0	0	1	0	0	0	3697	652	23	1	3719	1	COL4A2	13	111145564	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	26690898	111145564	4024314	94	18135											
MDGA2	161357	genome.wustl.edu	37	chr14	47566228	47566228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgacccaggtgagagaagGtgcaggctctcctcctgttg	7	9	13	12	0	1	3	0	2	1	1	3	4	2	3	4	3	1	3	4	3	1	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:47566228G>T	ENST00000399232.2	-	6	1181	c.817C>A	c.(817-819)Cct>Act	p.P273T	MDGA2_ENST00000426342.1_Missense_Mutation_p.P44T|MDGA2_ENST00000439988.3_Missense_Mutation_p.P342T|MDGA2_ENST00000357362.3_Missense_Mutation_p.P44T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	273	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTGAGAGAAGGTGCAGGCTCT	0.468																																																	0													132	126	128					14																	47566228		1918	4126	6044	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.817C>A	14.37:g.47566228G>T	ENSP00000382178:p.Pro273Thr		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.P342T	ENST00000399232.2	37	c.1024		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.550022|4.550022	0.86127|0.86127	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362|ENST00000554762	T;T;T;T|.	0.13901|.	2.55;2.55;2.55;2.55|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.51477|.	U|.	0.000090|.	D|D	0.85986|0.85986	0.5825|0.5825	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.67382|.	0.951|.	D|D	0.88074|0.88074	0.2802|0.2802	10|5	0.72032|.	D|.	0.01|.	.|.	18.6475|18.6475	0.91416|0.91416	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	273|.	Q7Z553|.	MDGA2_HUMAN|.	T|N	273;44;342;44|47	ENSP00000400011:P273T;ENSP00000405456:P44T;ENSP00000382178:P342T;ENSP00000349925:P44T|.	ENSP00000349925:P44T|.	P|T	-|-	1|2	0|0	MDGA2|MDGA2	46635978|46635978	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.995000|0.995000	0.86356|0.86356	9.025000|9.025000	0.93694|0.93694	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	CCT|ACC	MDGA2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000272781		0.468	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5		0	50	0	G	NM_182830		47566228	-1			no_errors	ENST00000439988	ensembl	human	known	74_37	missense	6.38	43	3	SNP	0.998	T	T	47566228	G	T	47566228	3	4	66	1	0	0	0	0	1	0	0	0	9445	1261	44	3	2101	3	MDGA2	14	47566228	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		47566228	59783312	95	18136											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103433438	103433438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgactccttcttggCtgccagatcctgcagctcat	6	11	9	15	0	2	2	1	1	1	1	4	2	4	2	4	2	3	3	4	2	0	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:103433438C>T	ENST00000361246.2	-	17	2704	c.2416G>A	c.(2416-2418)Gcc>Acc	p.A806T		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TCCTTCTTGGCTGCCAGATCC	0.522																																																	0													85	79	81					14																	103433438		2203	4300	6503	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2416G>A	14.37:g.103433438C>T	ENSP00000355237:p.Ala806Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.A806T	ENST00000361246.2	37	c.2416	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022138	0.35701	.	.	ENSG00000198752	ENST00000361246	T	0.40476	1.03	5.32	3.23	0.37069	.	0.159877	0.64402	D	0.000020	T	0.36386	0.0965	L	0.51422	1.61	0.41333	D	0.987258	B	0.15930	0.015	B	0.17098	0.017	T	0.12785	-1.0534	10	0.18276	T	0.48	.	14.0489	0.64722	0.3333:0.6666:0.0:0.0	.	806	Q9Y5S2	MRCKB_HUMAN	T	806	ENSP00000355237:A806T	ENSP00000355237:A806T	A	-	1	0	CDC42BPB	102503191	0.947000	0.32204	0.811000	0.32455	0.977000	0.68977	2.199000	0.42715	0.510000	0.28216	0.655000	0.94253	GCC	CDC42BPB	-	NULL	ENSG00000198752		0.522	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	-	0	55	0	C	NM_006035		103433438	-1	tier1	-	no_errors	ENST00000361246	ensembl	human	known	74_37	missense	11.76	75	10	SNP	0.992	T	T	103433438	C	T	103433438	3	4	66	1	0	0	0	0	1	0	0	0	3080	797	28	3	2803	3	CDC42BPB	14	103433438	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	55867210	103433438	3916102	96	18137											
KIAA0284	283638	genome.wustl.edu	37	chr14	105360904	105360904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgaaggaactgaggCgggtgcagaaacagctggaa	13	5	14	9	1	0	3	0	2	0	1	1	5	1	5	2	4	4	2	2	4	4	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr14:105360904C>T	ENST00000414716.3	+	18	4624	c.4396C>T	c.(4396-4398)Cgg>Tgg	p.R1466W	CEP170B_ENST00000453495.1_Missense_Mutation_p.R1502W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1431W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1396W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1501						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGAACTGAGGCGGGTGCAGAA	0.632																																																	0													43	55	51					14																	105360904		2057	4183	6240	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4396C>T	14.37:g.105360904C>T	ENSP00000404151:p.Arg1466Trp		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R1502W	ENST00000414716.3	37	c.4504	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590424	0.46214	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.60299	0.26;0.21;0.2;0.3	4.76	0.118	0.14667	.	0.058952	0.64402	D	0.000006	T	0.70002	0.3174	M	0.73962	2.25	0.39967	D	0.974745	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.984	T	0.70371	-0.4890	10	0.87932	D	0	-14.4513	8.5276	0.33315	0.6062:0.2719:0.1218:0.0	.	1466;1501;1396	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	1431;1466;1502;1396;134	ENSP00000451249:R1431W;ENSP00000404151:R1466W;ENSP00000407238:R1502W;ENSP00000415006:R1396W	ENSP00000251181:R118W	R	+	1	2	KIAA0284	104431949	0.990000	0.36364	0.042000	0.18584	0.320000	0.28249	1.820000	0.39032	0.160000	0.19432	-0.315000	0.08773	CGG	CEP170B	-	NULL	ENSG00000099814		0.632	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0	106	0	C	NM_001112726		105360904	1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	missense	8.54	75	7	SNP	0.906	T	T	105360904	C	T	105360904	3	4	66	1	0	0	0	0	1	0	0	0	8193	759	27	1	4462	1	KIAA0284	14	105360904	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	1927466	105360904	1988636	97	18138											
FBN1	2200	genome.wustl.edu	37	chr15	48779545	48779545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggggacagctgatggcCaggcgggcattcacagcggt	7	7	18	9	2	1	1	1	1	0	0	1	2	1	2	1	6	2	3	1	6	0	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr15:48779545C>A	ENST00000316623.5	-	28	3882	c.3427G>T	c.(3427-3429)Ggc>Tgc	p.G1143C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1143	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCTGATGGCCAGGCGGGCAT	0.483																																																	0													117	115	116					15																	48779545		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3427G>T	15.37:g.48779545C>A	ENSP00000325527:p.Gly1143Cys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G1143C	ENST00000316623.5	37	c.3427	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863445	0.91511	.	.	ENSG00000166147	ENST00000316623	D	0.92911	-3.13	5.6	5.6	0.85130	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97955	0.9327	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99239	1.0884	10	0.87932	D	0	.	19.2077	0.93739	0.0:1.0:0.0:0.0	.	1143	P35555	FBN1_HUMAN	C	1143	ENSP00000325527:G1143C	ENSP00000325527:G1143C	G	-	1	0	FBN1	46566837	1.000000	0.71417	0.657000	0.29651	0.876000	0.50452	7.275000	0.78548	2.639000	0.89480	0.655000	0.94253	GGC	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	51	0	C			48779545	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.998	A	A	48779545	C	A	48779545	3	1	66	1	0	0	0	0	1	0	0	0	5724	594	21	3	5344	3	FBN1	15	48779545	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09		48779545	53751847	98	18139											
BBS4	585	genome.wustl.edu	37	chr15	73029250	73029250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagcctctgggctctaatCaagctctaggacaggcaatg	11	8	11	11	0	4	0	1	0	3	0	4	1	4	1	1	3	3	4	1	3	4	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr15:73029250C>G	ENST00000268057.4	+	15	1437	c.1396C>G	c.(1396-1398)Caa>Gaa	p.Q466E	BBS4_ENST00000542334.1_Missense_Mutation_p.Q294E|BBS4_ENST00000395205.2_Missense_Mutation_p.Q474E|BBS4_ENST00000539603.1_Missense_Mutation_p.Q454E	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	466	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GGGCTCTAATCAAGCTCTAGG	0.532									Bardet-Biedl syndrome																																								0													161	162	162					15																	73029250		2198	4297	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1396C>G	15.37:g.73029250C>G	ENSP00000268057:p.Gln466Glu		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q474E	ENST00000268057.4	37	c.1420	CCDS10246.1	15	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137088	0.56936	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.86	3.96	0.45880	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	L	0.55103	1.725	0.45648	D	0.998573	B;B;B	0.31931	0.347;0.347;0.236	B;B;B	0.26416	0.069;0.069;0.039	T	0.78430	-0.2207	10	0.17369	T	0.5	-12.5148	10.0223	0.42051	0.0:0.7903:0.1377:0.0719	.	454;474;466	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	E	294;466;454;474	ENSP00000445964:Q294E;ENSP00000268057:Q466E;ENSP00000442492:Q454E;ENSP00000378631:Q474E	ENSP00000268057:Q466E	Q	+	1	0	BBS4	70816303	1.000000	0.71417	0.781000	0.31783	0.993000	0.82548	5.958000	0.70330	0.810000	0.34279	0.655000	0.94253	CAA	BBS4	-	NULL	ENSG00000140463		0.532	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2		0	31	0	C	NM_033028		73029250	1			no_errors	ENST00000395205	ensembl	human	known	74_37	missense	7.32	37	3	SNP	1.000	G	G	73029250	C	G	73029250	3	3	66	1	0	0	0	0	1	0	0	0	1340	827	29	5	1454	5	BBS4	15	73029250	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	24249705	73029250	29502142	99	18140											
SYT17	51760	genome.wustl.edu	37	chr16	19234436	19234436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctggcagactgaatgttGatgtcattcgagccaagcaa	11	10	12	8	1	1	3	1	2	0	1	2	4	1	3	1	1	3	4	1	1	3	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr16:19234436G>C	ENST00000355377.2	+	6	1419	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	SYT17_ENST00000568115.1_Missense_Mutation_p.D280H|SYT17_ENST00000568433.1_Missense_Mutation_p.D35H|SYT17_ENST00000562711.2_Missense_Mutation_p.D337H|SYT17_ENST00000562034.1_Missense_Mutation_p.D280H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	341	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						ACTGAATGTTGATGTCATTCG	0.473																																																	0													117	96	103					16																	19234436		2197	4300	6497	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1021G>C	16.37:g.19234436G>C	ENSP00000347538:p.Asp341His		O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.D341H	ENST00000355377.2	37	c.1021	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.125218	0.94429	.	.	ENSG00000103528	ENST00000355377	T	0.68624	-0.34	4.83	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.171002	0.34411	N	0.003981	T	0.68961	0.3058	N	0.20304	0.555	0.58432	D	0.999999	P;D	0.55385	0.947;0.971	P;P	0.59115	0.796;0.852	T	0.73933	-0.3826	10	0.66056	D	0.02	.	18.8234	0.92106	0.0:0.0:1.0:0.0	.	341;280	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	341	ENSP00000347538:D341H	ENSP00000347538:D341H	D	+	1	0	SYT17	19141937	1.000000	0.71417	0.712000	0.30502	0.999000	0.98932	7.755000	0.85180	2.596000	0.87737	0.655000	0.94253	GAT	SYT17	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000103528		0.473	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	-	0	114	0	G	NM_016524		19234436	1	tier1	-	no_errors	ENST00000355377	ensembl	human	known	74_37	missense	17.53	80	17	SNP	0.996	C	C	19234436	G	C	19234436	3	2	66	1	0	0	0	0	1	0	0	0	15520	1290	45	5	1043	5	SYT17	16	19234436	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		19234436	71120317	100	18141											
COG7	91949	genome.wustl.edu	37	chr16	23428334	23428334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacaggccgcaggtccccaGgccattggtgaatctgacgc	9	6	12	14	2	1	2	0	2	1	0	2	2	2	2	4	4	1	1	4	4	2	1	rs375206757		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr16:23428334G>T	ENST00000307149.5	-	9	1431	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	416					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.L416L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGTCCCCAGGCCATTGGTG	0.582																																																	1	Substitution - coding silent(1)	breast(1)											89	69	76					16																	23428334		2197	4300	6497	SO:0001583	missense	0			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1246C>A	16.37:g.23428334G>T	ENSP00000305442:p.Leu416Met		Q6UWU7	Missense_Mutation	SNP	pfam_COG7	p.L416M	ENST00000307149.5	37	c.1246	CCDS10610.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073758	0.76415	.	.	ENSG00000168434	ENST00000307149	T	0.49139	0.79	5.59	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	M	0.63843	1.955	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	T	0.58381	-0.7646	10	0.34782	T	0.22	-7.155	11.3005	0.49302	0.1468:0.0:0.8532:0.0	.	416	P83436	COG7_HUMAN	M	416	ENSP00000305442:L416M	ENSP00000305442:L416M	L	-	1	2	COG7	23335835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.596000	0.61055	0.742000	0.32697	0.655000	0.94253	CTG	COG7	-	pfam_COG7	ENSG00000168434		0.582	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1		0	50	0	G			23428334	-1			no_errors	ENST00000307149	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	23428334	G	T	23428334	3	4	66	1	0	0	0	0	1	0	0	0	3670	991	35	3	1102	3	COG7	16	23428334	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	4193898	23428334	66926419	101	18142											
NUP93	9688	genome.wustl.edu	37	chr16	56878425	56878425	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcagcaactccgaagtcaAgcccgcactctgattacctt	10	10	6	15	2	3	1	2	1	2	0	5	2	4	1	3	0	4	2	3	0	4	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr16:56878425A>G	ENST00000308159.5	+	22	2485	c.2364A>G	c.(2362-2364)caA>caG	p.Q788Q	NUP93_ENST00000564887.1_Silent_p.Q665Q|NUP93_ENST00000542526.1_Silent_p.Q665Q|NUP93_ENST00000569842.1_Missense_Mutation_p.S828G	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	788					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCGAAGTCAAGCCCGCACTC	0.493																																					Colon(33;610 796 1305 1705 38917)												0													106	86	93					16																	56878425		2198	4300	6498	SO:0001819	synonymous_variant	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.2364A>G	16.37:g.56878425A>G			B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.S828G	ENST00000308159.5	37	c.2482	CCDS10769.1	16																																																																																			NUP93	-	NULL	ENSG00000102900		0.493	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0	171	0	A	NM_014669		56878425	1	tier1	-	no_errors	ENST00000569842	ensembl	human	putative	74_37	missense	22.92	111	33	SNP	1.000	G	G	56878425	A	G	56878425	2	3	66	1	0	0	0	0	0	0	0	1	10811	69	3	4		4	NUP93	16	56878425	Silent	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	33450091	56878425	33476328	102	18143											
WDR81	124997	genome.wustl.edu	37	chr17	1631464	1631464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagactacacgtctggcGtcagcttccacgaccaggct	8	8	9	16	3	2	1	1	0	1	1	4	2	4	1	3	2	2	2	3	2	1	2	rs547107402		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:1631464G>T	ENST00000409644.1	+	1	3211	c.3211G>T	c.(3211-3213)Gtc>Ttc	p.V1071F	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000309182.5_Missense_Mutation_p.V20F|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1071					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACGTCTGGCGTCAGCTTCCA	0.657																																																	0													28	32	31					17																	1631464		2201	4299	6500	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3211G>T	17.37:g.1631464G>T	ENSP00000386609:p.Val1071Phe		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1071F	ENST00000409644.1	37	c.3211	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064670	0.55432	.	.	ENSG00000167716	ENST00000309182;ENST00000409644;ENST00000354680	T;T	0.56275	2.02;0.47	5.58	5.58	0.84498	.	0.060916	0.64402	D	0.000003	T	0.62708	0.2450	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.68765	0.96;0.888	T	0.66272	-0.5965	10	0.87932	D	0	.	19.5737	0.95432	0.0:0.0:1.0:0.0	.	198;20	Q8TEL1;Q562E7	.;WDR81_HUMAN	F	20;1071;20	ENSP00000312074:V20F;ENSP00000386609:V1071F	ENSP00000312074:V20F	V	+	1	0	WDR81	1578214	1.000000	0.71417	0.960000	0.40013	0.409000	0.31022	4.570000	0.60872	2.644000	0.89710	0.609000	0.83330	GTC	WDR81	-	NULL	ENSG00000167716		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2		0	42	0	G	NM_152348		1631464	1			no_errors	ENST00000409644	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.990	T	T	1631464	G	T	1631464	3	4	66	1	0	0	0	0	1	0	0	0	17379	1145	40	2	3275	2	WDR81	17	1631464	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		1631464	79563746	103	18144											
POLR2A	5430	genome.wustl.edu	37	chr17	7415274	7415274	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacttgatggccatcaccCgacacggagtcaaccgccag	10	5	10	16	3	2	1	2	1	0	0	2	3	2	2	5	2	1	0	5	2	1	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:7415274C>T	ENST00000322644.6	+	25	4645	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1416					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGCCATCACCCGACACGGAGT	0.512																																																	0													92	77	82					17																	7415274		2203	4300	6503	SO:0001587	stop_gained	0					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"RNA polymerase subunits"	9187	protein-coding gene	gene with protein product	"DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit", "RNA polymerase II subunit B1"	180660	"polymerase (RNA) II (DNA directed) polypeptide A (220kD)"	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.4246C>T	17.37:g.7415274C>T	ENSP00000314949:p.Arg1416*		A6NN93|B9EH88|Q6NX41	Nonsense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.R1416*	ENST00000322644.6	37	c.4246	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.676567	0.99687	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	.	.	.	5.06	2.86	0.33363	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7442	13.7729	0.63036	0.2875:0.7125:0.0:0.0	.	.	.	.	X	1372;315;1416	.	ENSP00000314949:R1416X	R	+	1	2	SLC35G6	7355998	0.993000	0.37304	0.995000	0.50966	0.994000	0.84299	2.931000	0.48932	1.310000	0.45006	0.449000	0.29647	CGA	POLR2A	-	pfam_RNA_pol_Rpb1_5	ENSG00000181222		0.512	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	-	0	92	0	C	NM_000937		7415274	1	tier1	-	no_errors	ENST00000322644	ensembl	human	known	74_37	nonsense	19.72	57	14	SNP	0.992	T	T	7415274	C	T	7415274	4	4	66	1	0	0	0	0	0	1	0	0	12253	644	23	1	4344	1	POLR2A	17	7415274	Nonsense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	5783810	7415274	73779936	104	18145											
SLC6A4	6532	genome.wustl.edu	37	chr17	28548752	28548752	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctcccgttccccttgAtgaagctcagccactagggt	7	10	10	14	1	2	2	1	2	1	0	4	2	3	2	4	2	2	2	4	2	2	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:28548752A>G	ENST00000401766.2	-	2	737	c.225T>C	c.(223-225)caT>caC	p.H75H	SLC6A4_ENST00000261707.3_Silent_p.H75H			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	75					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	GTTCCCCTTGATGAAGCTCAG	0.547																																																	0													212	187	195					17																	28548752		2203	4300	6503	SO:0001819	synonymous_variant	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"Solute carriers"	11050	protein-coding gene	gene with protein product	"serotonin transporter 1"	182138	"solute carrier family 6 (neurotransmitter transporter, serotonin), member 4", "5-hydroxytryptamine (serotonin) transporter", "obsessive-compulsive disorder 1"	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.225T>C	17.37:g.28548752A>G			Q5EE02	Silent	SNP	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.H75	ENST00000401766.2	37	c.225	CCDS11256.1	17																																																																																			SLC6A4	-	NULL	ENSG00000108576		0.547	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3	-	0	123	0	A	NM_001045		28548752	-1	tier1	-	no_errors	ENST00000261707	ensembl	human	known	74_37	silent	27.15	110	41	SNP	0.119	G	G	28548752	A	G	28548752	2	3	66	1	0	0	0	0	0	0	0	1	14731	330	12	4		4	SLC6A4	17	28548752	Silent	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	21133478	28548752	52646458	105	18146											
ZNF207	7756	genome.wustl.edu	37	chr17	30696347	30696347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagttacctaagtatcaaCgtaatcttcctcggccagga	12	10	7	12	2	2	0	1	0	1	0	4	1	3	1	3	2	2	3	3	2	5	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:30696347C>T	ENST00000321233.6	+	10	1304	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	ZNF207_ENST00000394673.2_Missense_Mutation_p.R369C|ZNF207_ENST00000341711.6_Missense_Mutation_p.R301C|ZNF207_ENST00000394670.4_Missense_Mutation_p.R400C|ZNF207_ENST00000342555.6_Missense_Mutation_p.R403C|ZNF207_ENST00000577908.1_Missense_Mutation_p.R400C	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	384	GLEBS.				attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TAAGTATCAACGTAATCTTCC	0.512																																																	0													96	96	96					17																	30696347		2203	4300	6503	SO:0001583	missense	0			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1150C>T	17.37:g.30696347C>T	ENSP00000322777:p.Arg384Cys		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.R400C	ENST00000321233.6	37	c.1198	CCDS11271.1	17	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014353	0.54468	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T	0.50548	0.74;0.75	5.55	4.58	0.56647	.	0.099447	0.64402	D	0.000001	T	0.63593	0.2524	L	0.54323	1.7	0.80722	D	1	B;B;B;B;D	0.89917	0.214;0.214;0.214;0.113;1.0	B;B;B;B;D	0.81914	0.033;0.033;0.033;0.01;0.995	T	0.63152	-0.6701	10	0.39692	T	0.17	.	16.0097	0.80391	0.1351:0.8649:0.0:0.0	.	353;403;400;369;384	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	C	400;353;403;369;301;384	ENSP00000378165:R400C;ENSP00000344913:R301C	ENSP00000322777:R369C	R	+	1	0	ZNF207	27720460	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.750000	0.55157	1.316000	0.45131	0.585000	0.79938	CGT	ZNF207	-	NULL	ENSG00000010244		0.512	ZNF207-003	KNOWN	basic|CCDS	protein_coding	ZNF207	HGNC	protein_coding	OTTHUMT00000256251.2	-	0	50	0	C			30696347	1	tier1	-	no_errors	ENST00000394670	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	T	T	30696347	C	T	30696347	3	4	66	1	0	0	0	0	1	0	0	0	17813	536	19	1	1240	1	ZNF207	17	30696347	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	2147595	30696347	50498863	106	18147											
KRT23	25984	genome.wustl.edu	37	chr17	39092782	39092782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccctggggaagctcctgGgccggccccagccacctccg	5	4	14	18	2	0	0	0	0	0	0	2	2	2	1	8	4	3	1	8	4	1	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:39092782G>C	ENST00000209718.3	-	2	498	c.74C>G	c.(73-75)cCc>cGc	p.P25R	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	25	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAAGCTCCTGGGCCGGCCCCA	0.701																																																	0													20	26	24					17																	39092782		2184	4278	6462	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.74C>G	17.37:g.39092782G>C	ENSP00000209718:p.Pro25Arg		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.P25R	ENST00000209718.3	37	c.74	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	0.188	-1.056204	0.01965	.	.	ENSG00000108244	ENST00000209718	D	0.81659	-1.52	5.73	1.38	0.22167	.	0.696518	0.13103	N	0.413642	T	0.54886	0.1886	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.34800	-0.9814	10	0.16420	T	0.52	.	2.3313	0.04236	0.1521:0.1202:0.4532:0.2745	.	25	Q9C075	K1C23_HUMAN	R	25	ENSP00000209718:P25R	ENSP00000209718:P25R	P	-	2	0	KRT23	36346308	0.000000	0.05858	0.000000	0.03702	0.220000	0.24768	-0.430000	0.06973	0.044000	0.15775	0.557000	0.71058	CCC	KRT23	-	NULL	ENSG00000108244		0.701	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0	31	0	G			39092782	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.001	C	C	39092782	G	C	39092782	3	2	66	1	0	0	0	0	1	0	0	0	8487	1232	43	5	1226	5	KRT23	17	39092782	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	8396435	39092782	42102428	107	18148											
DNAJC7	7266	genome.wustl.edu	37	chr17	40142298	40142298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacctagccacagactgtgCttctggataacgacccagca	12	8	8	13	1	1	1	0	0	1	1	1	3	1	2	3	1	5	2	3	1	3	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:40142298C>T	ENST00000457167.4	-	6	819	c.583G>A	c.(583-585)Gca>Aca	p.A195T	DNAJC7_ENST00000426588.3_Missense_Mutation_p.A139T|DNAJC7_ENST00000316603.7_Missense_Mutation_p.A139T	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	195					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ACAGACTGTGCTTCTGGATAA	0.502																																					Colon(63;618 1117 8600 10857 19751)												0													59	56	57					17																	40142298		1984	4158	6142	SO:0001583	missense	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.583G>A	17.37:g.40142298C>T	ENSP00000406463:p.Ala195Thr		Q7Z784	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A195T	ENST00000457167.4	37	c.583	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.351397	0.95830	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	D;D;D	0.94046	-2.74;-3.34;-3.34	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	M	0.85945	2.785	0.80722	D	1	D;D;D	0.71674	0.988;0.997;0.998	D;D;D	0.77004	0.983;0.973;0.989	D	0.97481	1.0047	10	0.87932	D	0	-2.1389	19.4909	0.95049	0.0:1.0:0.0:0.0	.	184;139;195	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	T	195;139;139	ENSP00000406463:A195T;ENSP00000394327:A139T;ENSP00000313311:A139T	ENSP00000313311:A139T	A	-	1	0	DNAJC7	37395824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.607000	0.88179	0.563000	0.77884	GCA	DNAJC7	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168259		0.502	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2	-	0	62	0	C			40142298	-1	tier1	-	no_errors	ENST00000457167	ensembl	human	known	74_37	missense	12.61	104	15	SNP	1.000	T	T	40142298	C	T	40142298	3	4	66	1	0	0	0	0	1	0	0	0	4668	797	28	3	937	3	DNAJC7	17	40142298	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	1049516	40142298	41052912	108	18149											
VEZF1	7716	genome.wustl.edu	37	chr17	56056642	56056642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGcttttggttactggtctctt	1	18	11	11	0	1	0	0	0	1	0	2	0	1	0	0	2	8	8	0	2	1	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:56056642G>T	ENST00000581208.1	-	5	1049	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K	VEZF1_ENST00000584396.1_Missense_Mutation_p.Q328K	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	337					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						tgctgctgctgctTTTGGTTA	0.443																																																	0													91	96	94					17																	56056642		2203	4300	6503	SO:0001583	missense	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1009C>A	17.37:g.56056642G>T	ENSP00000462337:p.Gln337Lys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q337K	ENST00000581208.1	37	c.1009	CCDS32687.1	17	.	.	.	.	.	.	.	.	.	.	G	9.551	1.115961	0.20795	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.71	5.71	0.89125	.	1.062980	0.07161	N	0.850754	T	0.32071	0.0817	N	0.08118	0	0.20074	N	0.999932	B	0.26041	0.14	B	0.34489	0.184	T	0.15464	-1.0436	9	0.10111	T	0.7	-1.4976	17.6481	0.88154	0.0:0.0:1.0:0.0	.	337	Q14119	VEZF1_HUMAN	K	337	.	ENSP00000258963:Q337K	Q	-	1	0	VEZF1	53411641	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.069000	0.71209	2.710000	0.92621	0.655000	0.94253	CAG	VEZF1	-	NULL	ENSG00000136451		0.443	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1		0	54	0	G			56056642	-1			no_errors	ENST00000581208	ensembl	human	known	74_37	missense	8.43	76	7	SNP	1.000	T	T	56056642	G	T	56056642	3	4	66	1	0	0	0	0	1	0	0	0	17204	1328	46	3	564	3	VEZF1	17	56056642	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	15914344	56056642	25138568	109	18150											
NAT9	26151	genome.wustl.edu	37	chr17	72767990	72767990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctgaaaaacactgctcGtagccacctacgtgagccag	11	7	8	15	2	0	2	0	2	0	0	2	2	1	2	5	0	5	2	5	0	4	2	rs148689395		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:72767990G>A	ENST00000357814.3	-	7	570	c.497C>T	c.(496-498)aCg>aTg	p.T166M	NAT9_ENST00000580216.1_5'Flank|NAT9_ENST00000581136.1_Missense_Mutation_p.T161M|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000578822.1_Missense_Mutation_p.T171M|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000582870.1_Missense_Mutation_p.T170M|NAT9_ENST00000580632.1_Missense_Mutation_p.T166M|NAT9_ENST00000580301.1_Missense_Mutation_p.T165M	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	166	N-acetyltransferase.					protein complex (GO:0043234)	N-acetyltransferase activity (GO:0008080)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AACACTGCTCGTAGCCACCTA	0.562																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	86	82	84		497	-0.1	1	17	dbSNP_134	84	0,8600		0,0,4300	no	missense	NAT9	NM_015654.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	166/208	72767990	1,13005	2203	4300	6503	SO:0001583	missense	0			AK123115	CCDS11706.1	17q25.2	2011-11-25	2008-09-24		ENSG00000109065	ENSG00000109065			23133	protein-coding gene	gene with protein product			"N-acetyltransferase 9"			14608357	Standard	NM_015654		Approved	DKFZP564C103	uc002jlq.3	Q9BTE0		ENST00000357814.3:c.497C>T	17.37:g.72767990G>A	ENSP00000350467:p.Thr166Met		B2R7F0|Q9BTD0|Q9Y3T3	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.T166M	ENST00000357814.3	37	c.497	CCDS11706.1	17	.	.	.	.	.	.	.	.	.	.	G	2.666	-0.278670	0.05679	2.27E-4	0.0	ENSG00000109065	ENST00000357814	T	0.44881	0.91	5.09	-0.132	0.13489	Acyl-CoA N-acyltransferase (2);	0.733388	0.12977	N	0.423614	T	0.25457	0.0619	N	0.25286	0.73	0.80722	D	1	B;B	0.12630	0.006;0.001	B;B	0.06405	0.002;0.002	T	0.04178	-1.0971	10	0.38643	T	0.18	-8.7724	7.7133	0.28690	0.7151:0.0:0.0659:0.219	.	165;166	Q9BTE0-2;Q9BTE0	.;NAT9_HUMAN	M	166	ENSP00000350467:T166M	ENSP00000350467:T166M	T	-	2	0	NAT9	70279585	0.691000	0.27709	0.982000	0.44146	0.003000	0.03518	1.741000	0.38238	-0.236000	0.09753	-1.421000	0.01109	ACG	NAT9	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000109065		0.562	NAT9-001	KNOWN	basic|CCDS	protein_coding	NAT9	HGNC	protein_coding	OTTHUMT00000443700.1	-	0	39	0	G	NM_015654		72767990	-1	tier1	rs148689395	no_errors	ENST00000357814	ensembl	human	known	74_37	missense	7.81	59	5	SNP	0.980	A	A	72767990	G	A	72767990	3	1	66	1	0	0	0	0	1	0	0	0	10220	1145	40	1	130	1	NAT9	17	72767990	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	16711348	72767990	8427220	110	18151											
TMC6	11322	genome.wustl.edu	37	chr17	76120758	76120758	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagaaagaggaagtaggaGagcacgctggagccgaactg	14	5	16	6	2	0	3	0	1	0	3	0	8	0	5	1	3	3	3	1	3	4	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr17:76120758G>C	ENST00000590602.1	-	8	897	c.738C>G	c.(736-738)ctC>ctG	p.L246L	TMC6_ENST00000306591.7_Silent_p.L246L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.L246L|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_Silent_p.L19L|TMC6_ENST00000392467.3_Silent_p.L246L|TMC6_ENST00000592076.1_5'Flank			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	246					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGAAGTAGGAGAGCACGCTGG	0.662																																																	0													20	18	18					17																	76120758		2175	4243	6418	SO:0001819	synonymous_variant	0			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"epidermodysplasia verruciformis 1"	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.738C>G	17.37:g.76120758G>C			O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Silent	SNP	pfam_TMC	p.L246	ENST00000590602.1	37	c.738	CCDS32748.1	17																																																																																			TMC6	-	NULL	ENSG00000141524		0.662	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	-	0	42	0	G			76120758	-1	tier1	-	no_errors	ENST00000322914	ensembl	human	known	74_37	silent	11.63	38	5	SNP	1.000	C	C	76120758	G	C	76120758	2	2	66	1	0	0	0	0	0	0	0	1	16036	929	33	5		5	TMC6	17	76120758	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	3352768	76120758	5074452	111	18152											
CDH7	1005	genome.wustl.edu	37	chr18	63430163	63430163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggatgagtcaagcagaaCtctcaaggtccagatcaaag	14	7	11	9	0	3	3	3	1	1	2	5	4	4	4	1	2	2	1	1	2	4	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr18:63430163C>A	ENST00000397968.2	+	2	511	c.85C>A	c.(85-87)Ctc>Atc	p.L29I	CDH7_ENST00000323011.3_Missense_Mutation_p.L29I|CDH7_ENST00000536984.2_Missense_Mutation_p.L29I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	29					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAAGCAGAACTCTCAAGGTC	0.463																																																	0													109	104	106					18																	63430163		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.85C>A	18.37:g.63430163C>A	ENSP00000381058:p.Leu29Ile		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L29I	ENST00000397968.2	37	c.85	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625096	0.28889	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.55052	0.54;0.56;0.54	5.56	5.56	0.83823	.	0.275184	0.31335	N	0.007824	T	0.43831	0.1265	L	0.36672	1.1	0.30297	N	0.789852	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.33904	-0.9850	10	0.24483	T	0.36	.	15.856	0.78977	0.136:0.864:0.0:0.0	.	29;29	F5H5X9;Q9ULB5	.;CADH7_HUMAN	I	29	ENSP00000319166:L29I;ENSP00000443030:L29I;ENSP00000381058:L29I	ENSP00000319166:L29I	L	+	1	0	CDH7	61581143	0.245000	0.23899	0.941000	0.38009	0.823000	0.46562	0.711000	0.25764	2.610000	0.88304	0.650000	0.86243	CTC	CDH7	-	NULL	ENSG00000081138		0.463	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	53	0	C	NM_033646		63430163	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	16.13	52	10	SNP	0.996	A	A	63430163	C	A	63430163	3	1	66	1	0	0	0	0	1	0	0	0	3122	565	20	3	87	3	CDH7	18	63430163	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09		63430163	14647085	112	18153											
FAM108A1	81926	genome.wustl.edu	37	chr19	1881527	1881527	+	Frame_Shift_Del	DEL	G	G	-																															ccggggcagggcgggcagcaGaagaggcagcagagctcact																								rs377128884		TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:1881527delG	ENST00000292577.7	-	2	472	c.39delC	c.(37-39)ttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.F13delF(1)									GCGGGCAGCAGAAGAGGCAGC	0.756																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)											9	13	11					19																	1881527		2041	4133	6174	SO:0001589	frameshift_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.39delC	19.37:g.1881527delG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.C14fs	ENST00000292577.7	37	c.39	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.756	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	20	0	G	NM_031213		1881527	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	33.33	6	3	DEL	1.000	-	-	1881527	G	-	1881527	7	5	66	1	0	1	0	1	0	0	0	0	5410	933	33	0	1066	0	FAM108A1	19	1881527	Frame_Shift_Del	DEL	G	TCGA-L5-A4OS-01A-11D-A28B-09		1881527	57247456	113	18154	74	2									
FAM108A1	81926	genome.wustl.edu	37	chr19	1881529	1881530	+	Frame_Shift_Del	DEL	AG	AG	-																															ggggcagggcgggcagcagaAgaggcagcagagctcactca																										TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:1881529_1881530delAG	ENST00000292577.7	-	2	469_470	c.36_37delCT	c.(34-39)ctcttcfs	p.F13fs	ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.F13fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.F13fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	13						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGGCAGCAGAAGAGGCAGCAGA	0.762																																																	0																																										SO:0001589	frameshift_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"Abhydrolase domain containing"	28756	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 27", "family with sequence similarity 108, member A1"	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.36_37delCT	19.37:g.1881531_1881532delAG	ENSP00000292577:p.Phe13fs		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	pfam_Dienelactn_hydro	p.F13fs	ENST00000292577.7	37	c.37_36	CCDS45902.1	19																																																																																			ABHD17A	-	NULL	ENSG00000129968		0.762	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	HGNC	protein_coding	OTTHUMT00000415556.2		0	20	0	AG	NM_031213		1881530	-1	tier1		no_errors	ENST00000250974	ensembl	human	known	74_37	frame_shift_del	33.33	6	3	DEL	1.000:0.997	-	-	1881530	AG	-	1881529	7	5	66	1	0	1	0	1	0	0	0	0	5410	72	3	0	1068	0	FAM108A1	19	1881529	Frame_Shift_Del	DEL	AG	TCGA-L5-A4OS-01A-11D-A28B-09	2	1881529	57247454	114	18155	74	2									
ZNF20	7568	genome.wustl.edu	37	chr19	12243540	12243540	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgtaattggaaataaaGgccttaccacagtgcttaca	15	10	8	8	1	0	0	0	0	0	0	0	2	0	1	2	2	3	2	2	2	7	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:12243540G>A	ENST00000334213.5	-	4	1685	c.1461C>T	c.(1459-1461)gcC>gcT	p.A487A	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'Flank	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						TGGAAATAAAGGCCTTACCAC	0.423																																																	0													173	183	179					19																	12243540		2203	4300	6503	SO:0001819	synonymous_variant	0			X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"Zinc fingers, C2H2-type", "-"	12992	protein-coding gene	gene with protein product		194557	"zinc finger protein 20 (KOX 13)"				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1461C>T	19.37:g.12243540G>A			Q8N457|Q9UG41	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A487	ENST00000334213.5	37	c.1461	CCDS45986.1	19																																																																																			ZNF20	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000132010		0.423	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF20	HGNC	protein_coding	OTTHUMT00000344101.1	-	0	79	0	G	NM_021143		12243540	-1	tier1	-	no_errors	ENST00000334213	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.013	A	A	12243540	G	A	12243540	2	1	66	1	0	0	0	0	0	0	0	1	17809	987	35	3		3	ZNF20	19	12243540	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	10362011	12243540	46885443	115	18156											
KLHL26	55295	genome.wustl.edu	37	chr19	18775251	18775251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgcagcgactacttCaggtaagtgctggccccagg	7	8	13	13	1	1	0	1	0	0	0	1	1	1	0	3	3	5	4	3	3	2	3			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:18775251C>A	ENST00000300976.4	+	2	354	c.264C>A	c.(262-264)ttC>ttA	p.F88L	KLHL26_ENST00000595182.1_Missense_Mutation_p.F88L|KLHL26_ENST00000599006.1_Missense_Mutation_p.F88L|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	88	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.F88L(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGACTACTTCAGGTAAGTGC	0.622																																																	1	Substitution - Missense(1)	prostate(1)											52	56	55					19																	18775251		2203	4300	6503	SO:0001583	missense	0				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"Kelch-like", "BTB/POZ domain containing"	25623	protein-coding gene	gene with protein product			"kelch-like 26 (Drosophila)"				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.264C>A	19.37:g.18775251C>A	ENSP00000300976:p.Phe88Leu		Q8TAP0|Q9NUX3	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F88L	ENST00000300976.4	37	c.264	CCDS12384.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485605	0.84854	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	D	0.84944	-1.92	4.14	3.09	0.35607	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.92153	0.7512	M	0.89601	3.045	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	D	0.92194	0.5762	10	0.87932	D	0	.	10.345	0.43901	0.0:0.8993:0.0:0.1007	.	88	Q53HC5	KLH26_HUMAN	L	88	ENSP00000300976:F88L	ENSP00000300976:F88L	F	+	3	2	KLHL26	18636251	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	3.801000	0.55545	0.823000	0.34589	0.561000	0.74099	TTC	KLHL26	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000167487		0.622	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	HGNC	protein_coding	OTTHUMT00000465145.1		0	36	0	C	NM_018316		18775251	1			no_errors	ENST00000300976	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	18775251	C	A	18775251	3	1	66	1	0	0	0	0	1	0	0	0	8408	825	29	3	270	3	KLHL26	19	18775251	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	6531711	18775251	40353732	116	18157											
ZNF208	7757	genome.wustl.edu	37	chr19	22154882	22154882	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttagtaaggattgagAatgtactaaagcctttgcca	13	14	9	5	0	0	1	0	1	0	1	0	3	0	2	2	1	3	3	2	1	7	8			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:22154882A>G	ENST00000397126.4	-	4	3102	c.2954T>C	c.(2953-2955)tTc>tCc	p.F985S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	985					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAGGATTGAGAATGTACTAAA	0.348																																																	0													53	57	56					19																	22154882		2091	4237	6328	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2954T>C	19.37:g.22154882A>G	ENSP00000380315:p.Phe985Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F985S	ENST00000397126.4	37	c.2954	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	a	0	-2.762512	0.00084	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.13538	2.58	2.43	-4.87	0.03123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	1	B	0.18968	0.032	B	0.14578	0.011	T	0.36286	-0.9754	8	0.09084	T	0.74	.	0.5911	0.00728	0.2129:0.2559:0.2798:0.2514	.	857	O43345	ZN208_HUMAN	S	985;857	ENSP00000380315:F985S	ENSP00000380315:F985S	F	-	2	0	ZNF208	21946722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.461000	0.00463	-2.774000	0.00363	-0.828000	0.03084	TTC	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.348	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1		0	43	0	A	NM_007153		22154882	-1			no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	6.25	30	2	SNP	0.000	G	G	22154882	A	G	22154882	3	3	66	1	0	0	0	0	1	0	0	0	17814	246	9	4	892	4	ZNF208	19	22154882	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	3379631	22154882	36974101	117	18158											
PDCD2L	84306	genome.wustl.edu	37	chr19	34900093	34900093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaacagccttgcagctgagGactggtgtgaaggtgctgat	10	9	15	7	0	0	3	0	3	0	0	0	5	0	4	1	3	5	3	1	3	2	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:34900093G>T	ENST00000246535.3	+	4	411	c.364G>T	c.(364-366)Gac>Tac	p.D122Y	RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.D117Y|PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	122					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TGCAGCTGAGGACTGGTGTGA	0.502																																																	0													123	116	118					19																	34900093		2203	4300	6503	SO:0001583	missense	0			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.364G>T	19.37:g.34900093G>T	ENSP00000246535:p.Asp122Tyr			Missense_Mutation	SNP	pfam_PDCD2_C	p.D122Y	ENST00000246535.3	37	c.364	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563732	0.65651	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.81	3.65	0.41850	.	0.092482	0.64402	D	0.000001	T	0.68988	0.3061	M	0.69358	2.11	0.44309	D	0.997188	D	0.76494	0.999	D	0.68765	0.96	T	0.68409	-0.5416	9	0.66056	D	0.02	-7.0472	7.8031	0.29187	0.2171:0.0:0.7829:0.0	.	122	Q9BRP1	PDD2L_HUMAN	Y	122	.	ENSP00000246535:D122Y	D	+	1	0	PDCD2L	39591933	0.998000	0.40836	0.987000	0.45799	0.957000	0.61999	2.155000	0.42301	0.680000	0.31366	0.655000	0.94253	GAC	PDCD2L	-	NULL	ENSG00000126249		0.502	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3		0	31	0	G	NM_032346		34900093	1			no_errors	ENST00000246535	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.912	T	T	34900093	G	T	34900093	3	4	66	1	0	0	0	0	1	0	0	0	11659	1174	41	3	378	3	PDCD2L	19	34900093	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	12745211	34900093	24228890	118	18159											
CEACAM3	1084	genome.wustl.edu	37	chr19	42314366	42314366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctgtttccaggccgtGgtccctcccacagctctgcc	3	12	9	17	1	2	0	0	0	2	0	6	0	5	0	5	2	2	2	5	2	0	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:42314366G>T	ENST00000357396.3	+	5	842	c.601G>T	c.(601-603)Ggt>Tgt	p.G201C	CEACAM3_ENST00000221999.4_Missense_Mutation_p.W183L|CEACAM3_ENST00000344550.4_Missense_Mutation_p.W183L	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	201						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCCAGGCCGTGGTCCCTCCCA	0.617																																																	0													161	100	121					19																	42314366		2203	4299	6502	SO:0001583	missense	0			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.601G>T	19.37:g.42314366G>T	ENSP00000349971:p.Gly201Cys		G5E978|Q3KPH9	Missense_Mutation	SNP	pfam_Ig_V-set	p.G201C	ENST00000357396.3	37	c.601	CCDS12586.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.79|10.79	1.450647|1.450647	0.26074|0.26074	.|.	.|.	ENSG00000170956|ENSG00000170956	ENST00000357396|ENST00000221999;ENST00000344550	T|T;T	0.01287|0.01076	5.05|5.37;5.37	2.0|2.0	-1.56|-1.56	0.08532|0.08532	.|.	.|.	.|.	.|.	.|.	T|T	0.02193|0.02193	0.0068|0.0068	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	D|P	0.76494|0.47962	0.999|0.903	D|P	0.68192|0.50049	0.956|0.629	T|T	0.40098|0.40098	-0.9581|-0.9581	9|9	0.54805|0.87932	T|D	0.06|0	.|.	5.0161|5.0161	0.14337|0.14337	0.5354:0.0:0.4646:0.0|0.5354:0.0:0.4646:0.0	.|.	201|183	P40198|G5E978	CEAM3_HUMAN|.	C|L	201|183	ENSP00000349971:G201C|ENSP00000221999:W183L;ENSP00000341725:W183L	ENSP00000349971:G201C|ENSP00000221999:W183L	G|W	+|+	1|2	0|0	CEACAM3|CEACAM3	47006206|47006206	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.599000|0.599000	0.24089|0.24089	-0.310000|-0.310000	0.08766|0.08766	-0.481000|-0.481000	0.04817|0.04817	GGT|TGG	CEACAM3	-	NULL	ENSG00000170956		0.617	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM3	HGNC	protein_coding	OTTHUMT00000316509.2		0	74	0	G	NM_001815		42314366	1			no_errors	ENST00000357396	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T	T	42314366	G	T	42314366	3	4	66	1	0	0	0	0	1	0	0	0	3200	1348	47	3	619	3	CEACAM3	19	42314366	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	7414273	42314366	16814617	119	18160											
ZNF613	79898	genome.wustl.edu	37	chr19	52448537	52448537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaaaatcctgctcacaCaagtcaggtctcattaacca	13	10	7	11	0	3	0	3	0	1	0	5	1	4	1	2	2	2	1	2	2	4	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:52448537C>A	ENST00000293471.6	+	6	2080	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	ZNF613_ENST00000391794.4_Missense_Mutation_p.H431Q|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CCTGCTCACACAAGTCAGGTC	0.428																																																	0													82	75	77					19																	52448537		2203	4300	6503	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1401C>A	19.37:g.52448537C>A	ENSP00000293471:p.His467Gln		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H467Q	ENST00000293471.6	37	c.1401	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	C	2.656	-0.280795	0.05642	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.18338	2.22;2.22	3.36	-2.07	0.07276	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.199975	0.25037	N	0.033625	T	0.03263	0.0095	N	0.02213	-0.635	0.09310	N	1	B	0.13145	0.007	B	0.14023	0.01	T	0.32455	-0.9906	10	0.02654	T	1	.	0.1686	0.00111	0.286:0.2528:0.2255:0.2357	.	467	Q6PF04	ZN613_HUMAN	Q	467;431;141	ENSP00000293471:H467Q;ENSP00000375671:H431Q	ENSP00000293471:H467Q	H	+	3	2	ZNF613	57140349	0.000000	0.05858	0.281000	0.24762	0.969000	0.65631	-3.964000	0.00324	-0.067000	0.12976	-0.140000	0.14226	CAC	ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.428	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2		0	53	0	C	NM_024840		52448537	1			no_errors	ENST00000293471	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	A	A	52448537	C	A	52448537	3	1	66	1	0	0	0	0	1	0	0	0	18086	477	17	3	1415	3	ZNF613	19	52448537	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	10134171	52448537	6680446	120	18161											
ZNF808	388558	genome.wustl.edu	37	chr19	53056935	53056935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagataccccatttaggaGacaaacaatataaatgtgat	18	9	6	8	0	0	3	0	1	0	2	0	4	0	3	3	1	2	0	3	1	7	5			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr19:53056935G>C	ENST00000359798.4	+	5	946	c.766G>C	c.(766-768)Gac>Cac	p.D256H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCATTTAGGAGACAAACAATA	0.398																																																	0													146	148	147					19																	53056935		2203	4297	6500	SO:0001583	missense	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"Zinc fingers, C2H2-type", "-"	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.766G>C	19.37:g.53056935G>C	ENSP00000352846:p.Asp256His		Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D256H	ENST00000359798.4	37	c.766	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	14.01	2.407606	0.42715	.	.	ENSG00000198482	ENST00000359798	T	0.15718	2.4	1.57	-2.21	0.06973	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26376	0.0644	L	0.56199	1.76	0.21822	N	0.999529	P	0.52463	0.953	P	0.59761	0.863	T	0.15694	-1.0428	9	0.87932	D	0	.	5.7316	0.18042	0.0:0.2146:0.5657:0.2197	.	256	Q8N4W9	ZN808_HUMAN	H	256	ENSP00000352846:D256H	ENSP00000352846:D256H	D	+	1	0	ZNF808	57748747	0.093000	0.21703	0.000000	0.03702	0.063000	0.16089	1.185000	0.32065	-0.617000	0.05664	0.305000	0.20034	GAC	ZNF808	-	pfscan_Znf_C2H2	ENSG00000198482		0.398	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	-	0	127	0	G	NM_001039886		53056935	1	tier1	-	no_errors	ENST00000359798	ensembl	human	known	74_37	missense	7.27	102	8	SNP	0.952	C	C	53056935	G	C	53056935	3	2	66	1	0	0	0	0	1	0	0	0	18221	942	33	5	776	5	ZNF808	19	53056935	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	608398	53056935	6072048	121	18162											
SLC4A11	83959	genome.wustl.edu	37	chr20	3208438	3208438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagggtctgccagtcaagGcctgtgctcagcgtccatga	7	8	14	12	1	3	1	2	1	1	0	4	1	4	1	3	3	3	2	3	3	1	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:3208438G>A	ENST00000380056.3	-	19	2718	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	SLC4A11_ENST00000539553.2_Missense_Mutation_p.P875S|SLC4A11_ENST00000380059.3_Missense_Mutation_p.P918S|SLC4A11_ENST00000488544.1_5'Flank	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	891	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCAGTCAAGGCCTGTGCTCA	0.617																																					NSCLC(190;922 2139 10266 10292 38692)												0													146	109	121					20																	3208438		2203	4300	6503	SO:0001583	missense	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"Solute carriers"	16438	protein-coding gene	gene with protein product		610206	"corneal endothelial dystrophy 2 (autosomal recessive)", "solute carrier family 4, sodium bicarbonate transporter-like, member 11", "corneal dystrophy and perceptive deafness 1"	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2671C>T	20.37:g.3208438G>A	ENSP00000369396:p.Pro891Ser		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.P918S	ENST00000380056.3	37	c.2752	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528660	0.64860	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;T	0.81579	-1.51;-1.5;-1.47	3.89	-0.464	0.12160	.	1.202030	0.06478	N	0.732268	T	0.63046	0.2478	N	0.14661	0.345	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.08055	0.003;0.001;0.001	T	0.52170	-0.8611	10	0.87932	D	0	.	2.7927	0.05392	0.3002:0.0:0.3612:0.3387	.	875;918;891	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	S	918;891;875	ENSP00000369399:P918S;ENSP00000369396:P891S;ENSP00000441370:P875S	ENSP00000369396:P891S	P	-	1	0	SLC4A11	3156438	0.262000	0.24073	0.263000	0.24496	0.571000	0.35966	0.777000	0.26718	-0.039000	0.13602	0.650000	0.86243	CCT	SLC4A11	-	NULL	ENSG00000088836		0.617	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	-	0	48	0	G			3208438	-1	tier1	-	no_errors	ENST00000380059	ensembl	human	known	74_37	missense	25.97	57	20	SNP	0.032	A	A	3208438	G	A	3208438	3	1	66	1	0	0	0	0	1	0	0	0	14697	1203	42	3	8	3	SLC4A11	20	3208438	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09		3208438	59817082	122	18163											
PLCB4	5332	genome.wustl.edu	37	chr20	9389320	9389320	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcttcttttaatgaatcAgtcggtcttggctacttgaa	9	17	8	7	1	4	2	1	2	3	0	5	2	4	2	0	2	1	1	0	2	4	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:9389320A>T	ENST00000378493.1	+	19	1809	c.1794A>T	c.(1792-1794)tcA>tcT	p.S598S	PLCB4_ENST00000378501.2_Silent_p.S598S|PLCB4_ENST00000278655.4_Silent_p.S598S|PLCB4_ENST00000334005.3_Silent_p.S598S|PLCB4_ENST00000378473.3_Silent_p.S610S|PLCB4_ENST00000414679.2_Silent_p.S610S|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	598	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTAATGAATCAGTCGGTCTTG	0.388																																																	0													100	93	96					20																	9389320		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1794A>T	20.37:g.9389320A>T			B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.S598	ENST00000378493.1	37	c.1794	CCDS13105.1	20																																																																																			PLCB4	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000101333		0.388	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2	-	0	78	0	A			9389320	1	tier1	-	no_errors	ENST00000334005	ensembl	human	known	74_37	silent	25.86	86	30	SNP	0.118	T	T	9389320	A	T	9389320	2	4	66	1	0	0	0	0	0	0	0	1	12069	175	7	5		5	PLCB4	20	9389320	Silent	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	6180882	9389320	53636200	123	18164											
PAX1	5075	genome.wustl.edu	37	chr20	21687380	21687380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttgcctgggagatccgCgaccggctgctggccgacgg	5	8	15	13	5	1	1	0	0	1	1	2	4	2	1	4	4	2	2	4	4	0	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:21687380C>T	ENST00000398485.2	+	2	645	c.591C>T	c.(589-591)cgC>cgT	p.R197R	PAX1_ENST00000460221.1_Intron|PAX1_ENST00000444366.2_Silent_p.R173R	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	197	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGGAGATCCGCGACCGGCTGC	0.637																																																	0													51	55	53					20																	21687380		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.591C>T	20.37:g.21687380C>T			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.R197	ENST00000398485.2	37	c.591	CCDS13146.2	20																																																																																			PAX1	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom	ENSG00000125813		0.637	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	93	0	C			21687380	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	11.70	83	11	SNP	0.988	T	T	21687380	C	T	21687380	2	4	66	1	0	0	0	0	0	0	0	1	11517	755	27	1		1	PAX1	20	21687380	Silent	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	12298060	21687380	41338140	124	18165											
NINL	22981	genome.wustl.edu	37	chr20	25472115	25472115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcgctccgcctccacctCagaccgcaggaggctcagcc	6	6	9	20	3	3	1	2	0	1	1	6	2	5	2	6	2	1	3	6	2	0	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:25472115C>G	ENST00000278886.6	-	11	1430	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q	NINL_ENST00000422516.1_Missense_Mutation_p.E453Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	453					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCCTCCACCTCAGACCGCAGG	0.657																																																	0													82	79	80					20																	25472115		2203	4300	6503	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"EF-hand domain containing"	29163	protein-coding gene	gene with protein product	"ninein-like protein"	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1357G>C	20.37:g.25472115C>G	ENSP00000278886:p.Glu453Gln		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E453Q	ENST00000278886.6	37	c.1357	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046595	0.75846	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.32988	1.73;1.43	4.6	4.6	0.57074	.	0.410444	0.23151	N	0.051353	T	0.45816	0.1361	L	0.52126	1.63	0.32900	D	0.51305	D;D	0.89917	0.999;1.0	D;D	0.80764	0.935;0.994	T	0.48536	-0.9027	10	0.21014	T	0.42	-7.3627	12.8533	0.57871	0.0:1.0:0.0:0.0	.	453;453	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	Q	453	ENSP00000278886:E453Q;ENSP00000410431:E453Q	ENSP00000278886:E453Q	E	-	1	0	NINL	25420115	0.954000	0.32549	0.931000	0.37212	0.655000	0.38815	3.877000	0.56123	2.401000	0.81631	0.306000	0.20318	GAG	NINL	-	NULL	ENSG00000101004		0.657	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	-	0	67	0	C	NM_025176		25472115	-1	tier1	-	no_errors	ENST00000278886	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.992	G	G	25472115	C	G	25472115	3	3	66	1	0	0	0	0	1	0	0	0	10459	835	29	5	2847	5	NINL	20	25472115	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	3784735	25472115	37553405	125	18166											
SNTA1	6640	genome.wustl.edu	37	chr20	32005636	32005636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggggaggaaggctgcCgctgaaggggtgaggcagga	9	3	22	7	1	0	2	0	2	0	0	0	5	0	5	2	9	1	3	2	9	2	0			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:32005636C>T	ENST00000217381.2	-	3	861	c.590G>A	c.(589-591)cGg>cAg	p.R197Q		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	197	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|neuromuscular junction development (GO:0007528)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of vasoconstriction by circulating norepinephrine (GO:0003117)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|ventricular cardiac muscle cell action potential (GO:0086005)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular (GO:0005622)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	ATPase binding (GO:0051117)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GGAAGGCTGCCGCTGAAGGGG	0.567																																																	0													74	76	75					20																	32005636		2203	4300	6503	SO:0001583	missense	0			U40571	CCDS13220.1	20q11.2	2014-09-17	2012-06-15		ENSG00000101400	ENSG00000101400			11167	protein-coding gene	gene with protein product	"pro-TGF-alpha cytoplasmic domain-interacting protein 1", "dystrophin-associated protein A1, 59kDa, acidic component"	601017	"syntrophin, alpha 1 (dystrophin-associated protein A1, 59kD, acidic component)"	SNT1		8576247, 8612778	Standard	NM_003098		Approved	TACIP1, LQT12	uc002wzd.1	Q13424	OTTHUMG00000032259	ENST00000217381.2:c.590G>A	20.37:g.32005636C>T	ENSP00000217381:p.Arg197Gln		A8K7H9|B4DX40|E1P5N1|Q16438	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R197Q	ENST00000217381.2	37	c.590	CCDS13220.1	20	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061348	0.36373	.	.	ENSG00000101400	ENST00000217381	T	0.42513	0.97	5.71	3.78	0.43462	Pleckstrin homology domain (2);	0.172773	0.27927	N	0.017298	T	0.23330	0.0564	N	0.22421	0.69	0.29815	N	0.831355	B;B	0.15141	0.012;0.004	B;B	0.06405	0.002;0.0	T	0.12553	-1.0543	10	0.16896	T	0.51	-9.1681	5.9321	0.19144	0.0:0.6486:0.0:0.3514	.	197;197	B4DX40;Q13424	.;SNTA1_HUMAN	Q	197	ENSP00000217381:R197Q	ENSP00000217381:R197Q	R	-	2	0	SNTA1	31469297	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	1.207000	0.32333	1.415000	0.47037	0.655000	0.94253	CGG	SNTA1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000101400		0.567	SNTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTA1	HGNC	protein_coding	OTTHUMT00000078704.2	-	0	33	0	C	NM_003098		32005636	-1	tier1	-	no_errors	ENST00000217381	ensembl	human	known	74_37	missense	59.65	23	34	SNP	1.000	T	T	32005636	C	T	32005636	3	4	66	1	0	0	0	0	1	0	0	0	14916	652	23	1	951	1	SNTA1	20	32005636	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	6533521	32005636	31019884	126	18167											
PTPRT	11122	genome.wustl.edu	37	chr20	41385155	41385155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacccaccatcagagcggAtcacacagcggtacttgctg	11	6	10	14	2	2	2	2	0	0	2	2	3	2	3	2	2	4	2	2	2	1	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:41385155A>G	ENST00000373187.1	-	6	805	c.806T>C	c.(805-807)aTc>aCc	p.I269T	PTPRT_ENST00000373201.1_Missense_Mutation_p.I269T|PTPRT_ENST00000373193.3_Missense_Mutation_p.I269T|PTPRT_ENST00000373198.4_Missense_Mutation_p.I269T|PTPRT_ENST00000373190.1_Missense_Mutation_p.I269T|PTPRT_ENST00000373184.1_Missense_Mutation_p.I269T|PTPRT_ENST00000356100.2_Missense_Mutation_p.I269T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	269	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCAGAGCGGATCACACAGCG	0.602																																																	0													62	63	63					20																	41385155		2148	4251	6399	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.806T>C	20.37:g.41385155A>G	ENSP00000362283:p.Ile269Thr		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I269T	ENST00000373187.1	37	c.806	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	A	8.691	0.907356	0.17833	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198663	0.42548	D	0.000691	T	0.20740	0.0499	N	0.05280	-0.08	0.49130	D	0.999755	P;P	0.44816	0.844;0.759	P;B	0.48114	0.567;0.279	T	0.06534	-1.0821	10	0.06757	T	0.87	.	15.7133	0.77649	1.0:0.0:0.0:0.0	.	269;269	O14522-1;O14522	.;PTPRT_HUMAN	T	269	ENSP00000362286:I269T;ENSP00000362283:I269T;ENSP00000362289:I269T;ENSP00000348408:I269T;ENSP00000362294:I269T;ENSP00000362280:I269T;ENSP00000362297:I269T	ENSP00000348408:I269T	I	-	2	0	PTPRT	40818569	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.962000	0.93254	2.196000	0.70406	0.533000	0.62120	ATC	PTPRT	-	pfscan_Ig-like_dom	ENSG00000196090		0.602	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	64	0	A			41385155	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	9.09	70	7	SNP	1.000	G	G	41385155	A	G	41385155	3	3	66	1	0	0	0	0	1	0	0	0	12857	333	12	4	3684	4	PTPRT	20	41385155	Missense_Mutation	SNP	A	TCGA-L5-A4OS-01A-11D-A28B-09	9379519	41385155	21640365	127	18168											
SERINC3	10955	genome.wustl.edu	37	chr20	43142627	43142627	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccgtggaattcttacTgttaggacagcaactacaca	13	10	8	10	1	2	0	1	0	1	0	2	2	2	2	1	2	4	2	1	2	5	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:43142627T>G	ENST00000342374.4	-	2	251	c.94A>C	c.(94-96)Agt>Cgt	p.S32R	SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Missense_Mutation_p.S32R|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	32					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GAATTCTTACTGTTAGGACAG	0.473																																																	0													189	160	170					20																	43142627		2203	4300	6503	SO:0001583	missense	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"tumor differentially expressed 1"	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.94A>C	20.37:g.43142627T>G	ENSP00000340243:p.Ser32Arg		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.S32R	ENST00000342374.4	37	c.94	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	T	15.83	2.949408	0.53186	.	.	ENSG00000132824	ENST00000255175;ENST00000342374	T;T	0.14516	2.5;2.5	4.57	3.44	0.39384	.	0.677326	0.15465	N	0.260936	T	0.26484	0.0647	M	0.80982	2.52	0.18873	N	0.999982	P;B	0.40211	0.707;0.434	P;B	0.49597	0.616;0.392	T	0.07158	-1.0787	10	0.37606	T	0.19	.	7.0648	0.25145	0.1327:0.0757:0.0:0.7916	.	32;32	Q53GK8;Q13530	.;SERC3_HUMAN	R	32	ENSP00000255175:S32R;ENSP00000340243:S32R	ENSP00000255175:S32R	S	-	1	0	SERINC3	42576041	0.000000	0.05858	0.347000	0.25668	0.811000	0.45836	0.271000	0.18626	0.823000	0.34589	-0.490000	0.04691	AGT	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.473	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	-	0	58	0	T	NM_006811		43142627	-1	tier1	-	no_errors	ENST00000255175	ensembl	human	known	74_37	missense	8.11	68	6	SNP	0.002	G	G	43142627	T	G	43142627	3	3	66	1	0	0	0	0	1	0	0	0	14126	1580	55	4	1363	4	SERINC3	20	43142627	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	1757472	43142627	19882893	128	18169											
MMP9	4318	genome.wustl.edu	37	chr20	44639644	44639644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggcattcagggagacGcccatttcgacgatgacgag	9	6	13	13	5	1	2	1	1	0	1	2	6	1	2	3	2	0	1	3	2	0	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr20:44639644G>T	ENST00000372330.3	+	4	623	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	202					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	TCAGGGAGACGCCCATTTCGA	0.602																																																	0													88	84	85					20																	44639644		2203	4300	6503	SO:0001583	missense	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.604G>T	20.37:g.44639644G>T	ENSP00000361405:p.Ala202Ser		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.A202S	ENST00000372330.3	37	c.604	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645216	0.67358	.	.	ENSG00000100985	ENST00000372330	T	0.22743	1.94	4.62	4.62	0.57501	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.03717	-1.1010	10	0.12430	T	0.62	.	16.9809	0.86327	0.0:0.0:1.0:0.0	.	202	P14780	MMP9_HUMAN	S	202	ENSP00000361405:A202S	ENSP00000361405:A202S	A	+	1	0	MMP9	44073051	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.391000	0.34475	2.553000	0.86117	0.650000	0.86243	GCC	MMP9	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000100985		0.602	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1		0	63	0	G			44639644	1			no_errors	ENST00000372330	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	44639644	G	T	44639644	3	4	66	1	0	0	0	0	1	0	0	0	9707	1087	38	2	618	2	MMP9	20	44639644	Missense_Mutation	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	1497017	44639644	18385876	129	18170											
MICAL3	57553	genome.wustl.edu	37	chr22	18300174	18300174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtcgtcggccttcttcttCttgtccttcttgtacccgga	2	18	8	13	3	4	0	0	0	4	0	7	1	5	1	3	2	1	1	3	2	1	8			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:18300174C>G	ENST00000441493.2	-	26	5605	c.5253G>C	c.(5251-5253)aaG>aaC	p.K1751N	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1751					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTTCTTCTTCTTGTCCTTCT	0.637																																																	0													27	29	28					22																	18300174		1939	4118	6057	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5253G>C	22.37:g.18300174C>G	ENSP00000416015:p.Lys1751Asn		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.K1751N	ENST00000441493.2	37	c.5253	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.548|9.548	1.115072|1.115072	0.20795|0.20795	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000441493|ENST00000252134	T|.	0.68181|.	-0.31|.	4.65|4.65	0.234|0.234	0.15390|0.15390	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48205|0.48205	0.1487|0.1487	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P|.	0.50066|.	0.931|.	P|.	0.46629|.	0.522|.	T|T	0.24440|0.24440	-1.0160|-1.0160	10|5	0.35671|.	T|.	0.21|.	.|.	9.1894|9.1894	0.37189|0.37189	0.0:0.7024:0.0:0.2976|0.0:0.7024:0.0:0.2976	.|.	1751|.	Q7RTP6|.	MICA3_HUMAN|.	N|T	1751|733	ENSP00000416015:K1751N|.	ENSP00000416015:K1751N|.	K|R	-|-	3|2	2|0	XXbac-B461K10.4|XXbac-B461K10.4	16680174|16680174	0.993000|0.993000	0.37304|0.37304	0.985000|0.985000	0.45067|0.45067	0.918000|0.918000	0.54935|0.54935	0.728000|0.728000	0.26013|0.26013	-0.021000|-0.021000	0.14009|0.14009	-0.258000|-0.258000	0.10820|0.10820	AAG|AGA	MICAL3	-	NULL	ENSG00000243156		0.637	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1		0	43	0	C			18300174	-1			no_errors	ENST00000441493	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G	G	18300174	C	G	18300174	3	3	66	1	0	0	0	0	1	0	0	0	9609	912	32	5	783	5	MICAL3	22	18300174	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09		18300174	33004392	130	18171											
C22orf28	51493	genome.wustl.edu	37	chr22	32788229	32788229	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaaatttcacttacctCttccataaccagtttgggtg	11	15	5	10	0	3	0	2	0	1	0	4	0	4	0	3	1	2	1	3	1	5	6			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:32788229C>A	ENST00000216038.5	-	11	1506	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.E470Q(1)									TCACTTACCTCTTCCATAACC	0.368																																																	1	Substitution - Missense(1)	breast(1)											93	91	91					22																	32788229		2203	4300	6503	SO:0001587	stop_gained	0			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"focal adhesion-associated protein"	613901	"chromosome 22 open reading frame 28"	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1408G>T	22.37:g.32788229C>A	ENSP00000216038:p.Glu470*			Nonsense_Mutation	SNP	pfam_RtcB,superfamily_RtcB	p.E470*	ENST00000216038.5	37	c.1408	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	C	39	7.556419	0.98355	.	.	ENSG00000100220	ENST00000216038	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.9717	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	470	.	ENSP00000216038:E470X	E	-	1	0	C22orf28	31118229	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.805000	0.86005	2.768000	0.95171	0.655000	0.94253	GAG	RTCB	-	pfam_RtcB,superfamily_RtcB	ENSG00000100220		0.368	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCB	HGNC	protein_coding	OTTHUMT00000075188.3		0	45	0	C	NM_014306		32788229	-1			no_errors	ENST00000216038	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	1.000	A	A	32788229	C	A	32788229	4	1	66	1	0	0	0	0	0	1	0	0	2147	922	32	3	117	3	C22orf28	22	32788229	Nonsense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09	14488055	32788229	18516337	131	18172											
ELFN2	114794	genome.wustl.edu	37	chr22	37769432	37769432	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccctcctcgtagtacaGggcgggaaagctgtgccggt	7	7	15	12	3	0	0	0	0	0	0	2	1	1	1	3	4	3	4	3	4	3	2			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:37769432G>A	ENST00000402918.2	-	3	2928	c.2143C>T	c.(2143-2145)Ctg>Ttg	p.L715L	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	715					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCGTAGTACAGGGCGGGAAAG	0.711																																																	0													28	28	28					22																	37769432		2200	4298	6498	SO:0001819	synonymous_variant	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.2143C>T	22.37:g.37769432G>A			Q96PY3	Silent	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.L715	ENST00000402918.2	37	c.2143	CCDS33642.1	22																																																																																			ELFN2	-	NULL	ENSG00000166897		0.711	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	-	0	57	0	G	NM_052906		37769432	-1	tier1	-	no_errors	ENST00000402918	ensembl	human	known	74_37	silent	17.65	27	6	SNP	0.998	A	A	37769432	G	A	37769432	2	1	66	1	0	0	0	0	0	0	0	1	5074	991	35	3		3	ELFN2	22	37769432	Silent	SNP	G	TCGA-L5-A4OS-01A-11D-A28B-09	4981203	37769432	13535134	132	18173											
NCAPH2	29781	genome.wustl.edu	37	chr22	50960627	50960627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatggaggtcctgtacTggacacacgtgaaggagcag	12	6	14	9	1	0	2	0	1	0	1	1	5	1	5	1	4	2	2	1	4	2	1			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chr22:50960627T>C	ENST00000420993.2	+	14	1302	c.1180T>C	c.(1180-1182)Tgg>Cgg	p.W394R	NCAPH2_ENST00000395701.3_Missense_Mutation_p.W394R|NCAPH2_ENST00000299821.11_Missense_Mutation_p.W394R|NCAPH2_ENST00000520297.1_3'UTR|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	394					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGTCCTGTACTGGACACACGT	0.612																																																	0													73	78	76					22																	50960627		2203	4300	6503	SO:0001583	missense	0			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"kleisin beta", "CAP-H2 subunit of the condensin II complex"	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1180T>C	22.37:g.50960627T>C	ENSP00000410088:p.Trp394Arg		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.W394R	ENST00000420993.2	37	c.1180	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266053	0.59540	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.93	4.93	0.64822	.	0.239353	0.37219	N	0.002181	T	0.75057	0.3798	M	0.65975	2.015	0.44995	D	0.998014	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72846	-0.4169	9	0.25751	T	0.34	-15.09	13.4087	0.60929	0.0:0.0:0.0:1.0	.	394;372;394	Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;CNDH2_HUMAN	R	394	.	ENSP00000299821:W394R	W	+	1	0	NCAPH2	49307493	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	3.697000	0.54764	1.863000	0.54032	0.482000	0.46254	TGG	NCAPH2	-	pfam_Condensin_II_H2-like	ENSG00000025770		0.612	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1		0	44	0	T	NM_152299		50960627	1			no_errors	ENST00000299821	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	C	C	50960627	T	C	50960627	3	2	66	1	0	0	0	0	1	0	0	0	10249	1580	55	4	1273	4	NCAPH2	22	50960627	Missense_Mutation	SNP	T	TCGA-L5-A4OS-01A-11D-A28B-09	13191195	50960627	343939	133	18174											
DCX	1641	genome.wustl.edu	37	chrX	110576330	110576330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcgaaatttttcaggacCacaggcaataaacacatcat	17	9	6	9	1	2	0	2	0	0	0	2	2	2	1	1	2	2	1	1	2	5	4			TCGA-L5-A4OS-01A-11D-A28B-09	TCGA-L5-A4OS-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	e119c5d2-fdd0-4a8a-a6ce-3c68f3dbca52	ecbcc636-eb77-4e8b-8759-082bec11dc34	g.chrX:110576330C>A	ENST00000338081.3	-	4	1171	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C	DCX_ENST00000371993.2_Missense_Mutation_p.G253C|DCX_ENST00000356915.2_Missense_Mutation_p.G253C|DCX_ENST00000488120.1_Missense_Mutation_p.G253C|DCX_ENST00000356220.3_Missense_Mutation_p.G253C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	334	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.		G -> D (in SBHX).		axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTTTCAGGACCACAGGCAATA	0.393																																																	0													157	110	126					X																	110576330		2203	4300	6503	SO:0001583	missense	0			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"doublecortex"	300121	"doublecortex; lissencephaly, X-linked (doublecortin)"			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1000G>T	X.37:g.110576330C>A	ENSP00000337697:p.Gly334Cys		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.G334C	ENST00000338081.3	37	c.1000	CCDS14556.1	X	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833987	0.91036	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	5.44	5.44	0.79542	Doublecortin domain (5);	0.000000	0.85682	D	0.000000	D	0.97813	0.9282	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98671	1.0688	10	0.72032	D	0.01	.	18.3359	0.90287	0.0:1.0:0.0:0.0	.	322;334	B4DM53;O43602	.;DCX_HUMAN	C	253;253;334;253;253	ENSP00000349385:G253C;ENSP00000361061:G253C;ENSP00000337697:G334C;ENSP00000348553:G253C;ENSP00000419861:G253C	ENSP00000337697:G334C	G	-	1	0	DCX	110462986	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.748000	0.85085	2.270000	0.75569	0.436000	0.28706	GGT	DCX	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	ENSG00000077279		0.393	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	-	0	22	0	C	NM_178153		110576330	-1	tier1	-	no_errors	ENST00000338081	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	A	A	110576330	C	A	110576330	3	1	66	1	0	0	0	0	1	0	0	0	4327	594	21	3	356	3	DCX	23	110576330	Missense_Mutation	SNP	C	TCGA-L5-A4OS-01A-11D-A28B-09		110576330	44694230	134	18175											
AJAP1	55966	genome.wustl.edu	37	chr1	4772742	4772742	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcacccagcccccaaggaTtctgggggaggcctcaggta	9	6	13	13	0	3	0	2	0	1	0	3	2	3	2	4	5	1	1	4	5	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:4772742T>G	ENST00000378191.4	+	2	1193	c.812T>G	c.(811-813)aTt>aGt	p.I271S	AJAP1_ENST00000378190.3_Missense_Mutation_p.I271S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	271					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCCCAAGGATTCTGGGGGAG	0.597																																																	0													66	74	71					1																	4772742		2203	4300	6503	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.812T>G	1.37:g.4772742T>G	ENSP00000367433:p.Ile271Ser		Q9Y229	Missense_Mutation	SNP	NULL	p.I271S	ENST00000378191.4	37	c.812	CCDS54.1	1	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630331	0.67015	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.45276	0.9;0.9	5.14	4.02	0.46733	.	0.306880	0.29424	N	0.012182	T	0.28896	0.0717	L	0.27053	0.805	0.39473	D	0.967767	B	0.26809	0.16	B	0.31337	0.128	T	0.15896	-1.0421	10	0.42905	T	0.14	-6.5247	6.8311	0.23911	0.0:0.1033:0.0:0.8967	.	271	Q9UKB5	AJAP1_HUMAN	S	271	ENSP00000367432:I271S;ENSP00000367433:I271S	ENSP00000367432:I271S	I	+	2	0	AJAP1	4672602	0.993000	0.37304	0.991000	0.47740	0.943000	0.58893	2.333000	0.43912	1.926000	0.55796	0.383000	0.25322	ATT	AJAP1	-	NULL	ENSG00000196581		0.597	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	-	0	80	0	T	NM_018836		4772742	1	tier1	-	no_errors	ENST00000378190	ensembl	human	known	74_37	missense	61.64	28	45	SNP	0.995	G	G	4772742	T	G	4772742	3	3	67	1	0	0	0	0	1	0	0	0	438	1493	52	4	818	4	AJAP1	1	4772742	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09		4772742	244477879	1	18176											
KIF1B	23095	genome.wustl.edu	37	chr1	10397523	10397523	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactgggcagtgccttcacTttccgagtaacagtgttgca	10	11	10	10	1	1	0	1	0	0	0	2	1	2	0	2	1	4	4	2	1	2	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:10397523T>A	ENST00000377086.1	+	31	3556	c.3354T>A	c.(3352-3354)acT>acA	p.T1118T	KIF1B_ENST00000263934.6_Silent_p.T1072T|KIF1B_ENST00000377081.1_Silent_p.T1118T			O60333	KIF1B_HUMAN	kinesin family member 1B	1118					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTGCCTTCACTTTCCGAGTAA	0.478																																																	0													177	169	172					1																	10397523		2203	4300	6503	SO:0001819	synonymous_variant	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.3354T>A	1.37:g.10397523T>A			A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T1072	ENST00000377086.1	37	c.3216		1																																																																																			KIF1B	-	NULL	ENSG00000054523		0.478	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	-	0	73	0	T			10397523	1	tier1	-	no_errors	ENST00000263934	ensembl	human	known	74_37	silent	16.95	49	10	SNP	0.951	A	A	10397523	T	A	10397523	2	1	67	1	0	0	0	0	0	0	0	1	8311	1596	56	5		5	KIF1B	1	10397523	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	5624781	10397523	238853098	2	18177											
PRAMEF17	391004	genome.wustl.edu	37	chr1	13717112	13717112	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtttcagaaatttattgaAaagggtatacccagacagta	17	11	8	5	0	1	3	1	1	0	2	1	3	1	3	1	1	1	3	1	1	8	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:13717112A>C	ENST00000376098.4	+	2	625	c.599A>C	c.(598-600)aAa>aCa	p.K200T		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	200					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTATTGAAAAGGGTATAC	0.418																																																	0													4	4	4					1																	13717112		1361	3045	4406	SO:0001583	missense	0				CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"-"	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.599A>C	1.37:g.13717112A>C	ENSP00000365266:p.Lys200Thr		B2RUU4	Missense_Mutation	SNP	NULL	p.K200T	ENST00000376098.4	37	c.599	CCDS41264.1	1	.	.	.	.	.	.	.	.	.	.	A	6.629	0.484465	0.12641	.	.	ENSG00000204479	ENST00000376098	T	0.14516	2.5	1.09	-2.11	0.07187	.	1.883650	0.02349	N	0.075732	T	0.24005	0.0581	M	0.82823	2.61	0.09310	N	1	B	0.32526	0.374	B	0.41510	0.359	T	0.33240	-0.9876	10	0.66056	D	0.02	.	1.4867	0.02448	0.3738:0.0:0.276:0.3502	.	200	Q5VTA0	PRA17_HUMAN	T	200	ENSP00000365266:K200T	ENSP00000365266:K200T	K	+	2	0	PRAMEF17	13589699	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.814000	0.04486	-0.670000	0.05282	0.373000	0.22412	AAA	PRAMEF17	-	NULL	ENSG00000204479		0.418	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF17	HGNC	protein_coding	OTTHUMT00000021780.2	-	0	36	0	A	NM_001099851		13717112	1	tier1	-	no_errors	ENST00000376098	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.000	C	C	13717112	A	C	13717112	3	2	67	1	0	0	0	0	1	0	0	0	12474	14	1	4	605	4	PRAMEF17	1	13717112	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3319589	13717112	235533509	3	18178											
CLIC4	25932	genome.wustl.edu	37	chr1	25166462	25166462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacataaagttttctacacGtaaatttctggatggcaatg	13	13	9	6	1	2	0	0	0	2	0	2	2	2	2	0	3	1	3	0	3	6	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:25166462G>A	ENST00000374379.4	+	5	724	c.527G>A	c.(526-528)cGt>cAt	p.R176H		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	176	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TTTTCTACACGTAAATTTCTG	0.418																																																	0													93	84	87					1																	25166462		2203	4300	6503	SO:0001583	missense	0			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"Ion channels / Chloride channels : Intracellular"	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.527G>A	1.37:g.25166462G>A	ENSP00000363500:p.Arg176His		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.R176H	ENST00000374379.4	37	c.527	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502558	0.85176	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	D	0.94613	-3.47	5.63	5.63	0.86233	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	H	0.94620	3.56	0.52099	D	0.999946	D;P	0.89917	1.0;0.845	D;B	0.91635	0.999;0.103	D	0.98837	1.0753	10	0.72032	D	0.01	-8.5128	19.6864	0.95981	0.0:0.0:1.0:0.0	.	156;176	B3KTR3;Q9Y696	.;CLIC4_HUMAN	H	176	ENSP00000363500:R176H	ENSP00000363500:R176H	R	+	2	0	CLIC4	25039049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.669000	0.90835	0.585000	0.79938	CGT	CLIC4	-	superfamily_Glutathione-S-Trfase_C-like,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	ENSG00000169504		0.418	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	HGNC	protein_coding	OTTHUMT00000009332.1	-	0	40	0	G	NM_013943		25166462	1	tier1	-	no_errors	ENST00000374379	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	25166462	G	A	25166462	3	1	67	1	0	0	0	0	1	0	0	0	3535	1145	40	1	545	1	CLIC4	1	25166462	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	11449350	25166462	224084159	4	18179											
C1orf94	84970	genome.wustl.edu	37	chr1	34662990	34662990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctggctccctgcattcTtgcccctcctctagtggcag	5	11	10	15	0	2	1	0	0	2	1	4	1	4	1	4	2	3	4	4	2	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:34662990T>C	ENST00000488417.1	+	2	605	c.485T>C	c.(484-486)cTt>cCt	p.L162P	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	162										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCCTGCATTCTTGCCCCTCCT	0.597																																																	0													24	27	26					1																	34662990		692	1591	2283	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.485T>C	1.37:g.34662990T>C	ENSP00000435634:p.Leu162Pro		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.L162P	ENST00000488417.1	37	c.485	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	T	4.691	0.128545	0.08981	.	.	ENSG00000142698	ENST00000488417	T	0.28454	1.61	5.35	1.61	0.23674	.	.	.	.	.	T	0.23926	0.0579	L	0.44542	1.39	0.09310	N	0.999993	B	0.11235	0.004	B	0.09377	0.004	T	0.23655	-1.0182	9	0.59425	D	0.04	-22.0279	5.98	0.19401	0.0:0.456:0.0:0.544	.	162	Q6P1W5	CA094_HUMAN	P	162	ENSP00000435634:L162P	ENSP00000435634:L162P	L	+	2	0	C1orf94	34435577	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.410000	0.21098	0.326000	0.23384	0.533000	0.62120	CTT	C1orf94	-	NULL	ENSG00000142698		0.597	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	-	0	42	0	T	NM_032884		34662990	1	tier1	-	no_errors	ENST00000488417	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.000	C	C	34662990	T	C	34662990	3	2	67	1	0	0	0	0	1	0	0	0	2078	1609	56	4	491	4	C1orf94	1	34662990	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	9496528	34662990	214587631	5	18180											
LPPR5	163404	genome.wustl.edu	37	chr1	99470211	99470211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctgctggtgagcgccGcgggcagcaggggcatgcac	6	5	18	12	3	0	1	0	1	0	0	0	1	0	1	1	4	5	7	1	4	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:99470211G>A	ENST00000263177.4	-	1	238	c.17C>T	c.(16-18)gCg>gTg	p.A6V	LPPR5_ENST00000534652.1_5'Flank|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000370188.3_Missense_Mutation_p.A6V	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		6						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GGTGAGCGCCGCGGGCAGCAG	0.692																																																	0													57	49	52					1																	99470211		2202	4300	6502	SO:0001583	missense	0																														ENST00000263177.4:c.17C>T	1.37:g.99470211G>A	ENSP00000263177:p.Ala6Val		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.A6V	ENST00000263177.4	37	c.17	CCDS30778.1	1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449785	0.43531	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.31247	1.5;1.5	3.32	1.22	0.21188	.	5.928410	0.00873	U	0.002044	T	0.04724	0.0128	N	0.08118	0	0.24748	N	0.992995	B;B	0.23591	0.088;0.053	B;B	0.10450	0.005;0.002	T	0.17319	-1.0373	10	0.23302	T	0.38	.	4.8568	0.13563	0.1302:0.2181:0.6517:0.0	.	6;6	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	V	6	ENSP00000359207:A6V;ENSP00000263177:A6V	ENSP00000263177:A6V	A	-	2	0	AL161744.1	99242799	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	1.112000	0.31172	0.162000	0.19483	0.555000	0.69702	GCG	LPPR5	-	NULL	ENSG00000117598		0.692	LPPR5-002	KNOWN	basic|CCDS	protein_coding	LPPR5	Uniprot_gn	protein_coding	OTTHUMT00000393221.1	-	0	75	0	G			99470211	-1	tier1	-	no_errors	ENST00000263177	ensembl	human	known	74_37	missense	59.18	20	29	SNP	1.000	A	A	99470211	G	A	99470211	3	1	67	1	0	0	0	0	1	0	0	0	8963	1087	38	1	972	1	LPPR5	1	99470211	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	64807221	99470211	149780410	6	18181											
SLC6A17	388662	genome.wustl.edu	37	chr1	110740222	110740222	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcctggatcaaggaggagGtgaggggtggggccccaaac	9	4	19	9	1	1	1	1	1	0	0	1	4	1	4	3	8	1	0	3	8	2	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:110740222G>A	ENST00000331565.4	+	11	2300		c.e11+1			NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17						alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CAAGGAGGAGGTGAGGGGTGG	0.587											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23	25	25					1																	110740222		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"Solute carriers"	31399	protein-coding gene	gene with protein product		610299	"solute carrier family 6 (neurotransmitter transporter), member 17", "solute carrier family 6, member 17"				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1815+1G>A	1.37:g.110740222G>A		1429	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Splice_Site	SNP	-	e10+1	ENST00000331565.4	37	c.1815+1	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182151	0.78677	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A17	110541745	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	7.646000	0.83445	2.326000	0.78906	0.557000	0.71058	.	SLC6A17	-	-	ENSG00000197106		0.587	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	-	0	36	0	G	XM_371280	Intron	110740222	1	tier1	-	no_errors	ENST00000331565	ensembl	human	known	74_37	splice_site	65.62	11	21	SNP	1.000	A	A	110740222	G	A	110740222	5	1	67	1	0	0	0	0	0	0	1	0	14725	1275	44	3	1854	3	SLC6A17	1	110740222	Splice_Site	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	11270011	110740222	138510399	7	18182											
RFX5	5993	genome.wustl.edu	37	chr1	151316714	151316714	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtccaggcaggggtggcaTagacaccaaggtcttcctcc	10	7	12	12	0	1	1	0	0	1	1	4	1	4	1	4	5	0	2	4	5	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:151316714T>C	ENST00000290524.4	-	8	692	c.514A>G	c.(514-516)Atg>Gtg	p.M172V	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Missense_Mutation_p.M132V|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452671.2_Missense_Mutation_p.M172V|RFX5_ENST00000368870.2_Missense_Mutation_p.M172V	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	172					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGGGGTGGCATAGACACCAAG	0.483																																																	0													106	100	102					1																	151316714		2203	4300	6503	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.514A>G	1.37:g.151316714T>C	ENSP00000290524:p.Met172Val		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.M172V	ENST00000290524.4	37	c.514	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291231	0.40494	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000436637;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506	T;T;T;T;T;T;T;D	0.82619	0.22;0.22;-0.69;0.22;0.2;0.23;-0.65;-1.63	5.97	5.97	0.96955	.	0.079988	0.85682	D	0.000000	T	0.81711	0.4880	M	0.75264	2.295	0.49582	D	0.999807	P;P	0.45078	0.493;0.85	B;P	0.47346	0.066;0.544	D	0.84419	0.0570	10	0.56958	D	0.05	-16.1175	12.8526	0.57867	0.0:0.0:0.0:1.0	.	132;172	B7Z848;P48382	.;RFX5_HUMAN	V	172;172;64;172;132;172;172;172	ENSP00000290524:M172V;ENSP00000357864:M172V;ENSP00000390769:M64V;ENSP00000389130:M172V;ENSP00000398388:M132V;ENSP00000376502:M172V;ENSP00000399095:M172V;ENSP00000398666:M172V	ENSP00000290524:M172V	M	-	1	0	RFX5	149583338	1.000000	0.71417	0.950000	0.38849	0.190000	0.23558	4.596000	0.61055	2.288000	0.76882	0.533000	0.62120	ATG	RFX5	-	NULL	ENSG00000143390		0.483	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	-	0	35	0	T	NM_000449		151316714	-1	tier1	-	no_errors	ENST00000290524	ensembl	human	known	74_37	missense	64.29	15	27	SNP	0.998	C	C	151316714	T	C	151316714	3	2	67	1	0	0	0	0	1	0	0	0	13311	1406	49	4	1352	4	RFX5	1	151316714	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	40576492	151316714	97933907	8	18183											
FLG2	388698	genome.wustl.edu	37	chr1	152325410	152325410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgtccatgagtagttcCgtgtctctcatgaactgtga	8	15	9	9	1	3	3	1	3	2	0	6	3	5	3	2	0	1	2	2	0	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:152325410C>T	ENST00000388718.5	-	3	4924	c.4852G>A	c.(4852-4854)Gga>Aga	p.G1618R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1618					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1618*(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTAGTTCCGTGTCTCTCA	0.522																																																	2	Substitution - Nonsense(2)	lung(2)											390	341	358					1																	152325410		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4852G>A	1.37:g.152325410C>T	ENSP00000373370:p.Gly1618Arg		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G1618R	ENST00000388718.5	37	c.4852	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196506	0.22037	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	3.65	-0.676	0.11361	.	.	.	.	.	T	0.06142	0.0159	M	0.78456	2.415	0.09310	N	1	B	0.18310	0.027	B	0.08055	0.003	T	0.34079	-0.9843	9	0.59425	D	0.04	-0.8044	7.0478	0.25055	0.0:0.5837:0.0:0.4163	.	1618	Q5D862	FILA2_HUMAN	R	1618	ENSP00000373370:G1618R	ENSP00000373370:G1618R	G	-	1	0	FLG2	150592034	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.395000	0.01053	-0.412000	0.07519	-0.734000	0.03567	GGA	FLG2	-	NULL	ENSG00000143520		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	201	0	C	NM_001014342		152325410	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	65.98	99	192	SNP	0.000	T	T	152325410	C	T	152325410	3	4	67	1	0	0	0	0	1	0	0	0	5945	661	23	1	2327	1	FLG2	1	152325410	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	1008696	152325410	96925211	9	18184											
FLG2	388698	genome.wustl.edu	37	chr1	152330122	152330122	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgtctggatcatctgggTtctgtatatgagtgacacac	8	14	11	8	0	4	2	1	2	3	0	4	3	4	3	0	2	0	2	0	2	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:152330122T>G	ENST00000388718.5	-	3	212	c.140A>C	c.(139-141)aAc>aCc	p.N47T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	47	S-100-like. {ECO:0000250}.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCATCTGGGTTCTGTATATG	0.408																																																	0													82	76	78					1																	152330122		2203	4300	6503	SO:0001630	splice_region_variant	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.139-1A>C	1.37:g.152330122T>G			Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.N47T	ENST00000388718.5	37	c.140	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	15.35	2.808926	0.50421	.	.	ENSG00000143520	ENST00000388718	T	0.11385	2.78	5.75	5.75	0.90469	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.18841	0.0452	L	0.61387	1.9	0.33990	D	0.649013	D	0.76494	0.999	D	0.75020	0.985	T	0.02603	-1.1135	9	0.52906	T	0.07	-8.5975	12.4552	0.55700	0.0:0.0:0.0:1.0	.	47	Q5D862	FILA2_HUMAN	T	47	ENSP00000373370:N47T	ENSP00000373370:N47T	N	-	2	0	FLG2	150596746	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.168000	0.42424	2.202000	0.70862	0.528000	0.53228	AAC	FLG2	-	pfam_S100_Ca-bd_sub	ENSG00000143520		0.408	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	35	0	T	NM_001014342	Missense_Mutation	152330122	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	G	G	152330122	T	G	152330122	5	3	67	1	0	0	0	0	0	0	1	0	5945	1739	60	4	7039	4	FLG2	1	152330122	Splice_Site	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	4712	152330122	96920499	10	18185											
CRCT1	54544	genome.wustl.edu	37	chr1	152488000	152488000	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccggcaggggctgctgCggcgactcaggctgctgcgg	3	6	19	13	4	1	0	1	0	0	0	2	1	2	0	1	7	4	6	1	7	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:152488000C>T	ENST00000368790.3	+	2	214	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	47	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTGCTGCGGCGACTCAG	0.751																																																	0													5	7	6					1																	152488000		1807	3830	5637	SO:0001819	synonymous_variant	0			AJ243662	CCDS1012.1	1q21	2008-02-05	2006-12-18	2006-12-18	ENSG00000169509	ENSG00000169509			29875	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 42"	C1orf42		11230159	Standard	NM_019060		Approved	NICE-1	uc001ezz.3	Q9UGL9	OTTHUMG00000012391	ENST00000368790.3:c.141C>T	1.37:g.152488000C>T			A4QN00|Q6IAD7	Silent	SNP	NULL	p.C47	ENST00000368790.3	37	c.141	CCDS1012.1	1																																																																																			CRCT1	-	NULL	ENSG00000169509		0.751	CRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCT1	HGNC	protein_coding	OTTHUMT00000034511.1	-	0	19	0	C	NM_019060		152488000	1	tier1	-	no_errors	ENST00000368790	ensembl	human	known	74_37	silent	52.63	9	10	SNP	0.229	T	T	152488000	C	T	152488000	2	4	67	1	0	0	0	0	0	0	0	1	3860	776	27	1		1	CRCT1	1	152488000	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	157878	152488000	96762621	11	18186											
IVL	3713	genome.wustl.edu	37	chr1	152883271	152883271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagcaggaggggcaacTggagcagctggaggagcagg	11	2	21	7	0	0	0	0	0	0	0	0	5	0	5	0	8	6	6	0	8	1	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:152883271T>A	ENST00000368764.3	+	2	1062	c.998T>A	c.(997-999)cTg>cAg	p.L333Q	IVL_ENST00000392667.2_Missense_Mutation_p.L187Q			P07476	INVO_HUMAN	involucrin	333	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gaggggcaactggagcagctg	0.662																																																	0													17	16	17					1																	152883271		2116	4166	6282	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.998T>A	1.37:g.152883271T>A	ENSP00000357753:p.Leu333Gln		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.L333Q	ENST00000368764.3	37	c.998	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	T	2.906	-0.226388	0.06022	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.19532	2.56;2.14	3.82	-7.63	0.01290	.	.	.	.	.	T	0.02533	0.0077	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.38693	-0.9649	9	0.13108	T	0.6	.	6.5008	0.22168	0.2461:0.205:0.0:0.5489	.	333	P07476	INVO_HUMAN	Q	333;187	ENSP00000357753:L333Q;ENSP00000376435:L187Q	ENSP00000357753:L333Q	L	+	2	0	IVL	151149895	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.992000	0.03724	-2.425000	0.00561	-1.573000	0.00871	CTG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.662	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	102	0	T	NM_005547		152883271	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	22.14	109	31	SNP	0.001	A	A	152883271	T	A	152883271	3	1	67	1	0	0	0	0	1	0	0	0	7956	1580	55	5	1000	5	IVL	1	152883271	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	395271	152883271	96367350	12	18187											
SCAMP3	10067	genome.wustl.edu	37	chr1	155227351	155227351	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggagtgaaaaggaggacCcagaggatagaaagcccaaa	18	2	14	7	0	0	3	0	1	0	2	0	7	0	7	2	4	1	0	2	4	5	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:155227351C>T	ENST00000302631.3	-	6	722	c.615G>A	c.(613-615)tgG>tgA	p.W205*	FAM189B_ENST00000368368.3_5'Flank|FAM189B_ENST00000472550.1_5'Flank|SCAMP3_ENST00000355379.3_Nonsense_Mutation_p.W179*|FAM189B_ENST00000361361.2_5'Flank|FAM189B_ENST00000350210.2_5'Flank|SCAMP3_ENST00000472397.1_5'UTR	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	205					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAAGGAGGACCCAGAGGATAG	0.557																																																	0													75	76	76					1																	155227351		2203	4300	6503	SO:0001587	stop_gained	0			AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"Secretory carrier membrane proteins"	10565	protein-coding gene	gene with protein product	"Propin 1"	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.615G>A	1.37:g.155227351C>T	ENSP00000307275:p.Trp205*		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Nonsense_Mutation	SNP	pfam_SCAMP	p.W205*	ENST00000302631.3	37	c.615	CCDS1105.1	1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.613168	0.87359	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	.	.	.	4.92	3.98	0.46160	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7119	13.8313	0.63382	0.0:0.8455:0.1545:0.0	.	.	.	.	X	205;179	.	ENSP00000307275:W205X	W	-	3	0	SCAMP3	153493975	1.000000	0.71417	0.959000	0.39883	0.927000	0.56198	7.651000	0.83577	1.236000	0.43740	0.561000	0.74099	TGG	SCAMP3	-	pfam_SCAMP	ENSG00000116521		0.557	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP3	HGNC	protein_coding	OTTHUMT00000087399.1	-	0	55	0	C	NM_005698		155227351	-1	tier1	-	no_errors	ENST00000302631	ensembl	human	known	74_37	nonsense	65.45	19	36	SNP	1.000	T	T	155227351	C	T	155227351	4	4	67	1	0	0	0	0	0	1	0	0	13917	624	22	3	444	3	SCAMP3	1	155227351	Nonsense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	2344080	155227351	94023270	13	18188											
NTRK1	4914	genome.wustl.edu	37	chr1	156843699	156843699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcctccgcctccatcatGgctgccttcatggacaaccc	7	8	8	18	1	2	0	2	0	0	0	4	1	4	1	6	3	2	1	6	3	1	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:156843699G>A	ENST00000524377.1	+	8	1166	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	NTRK1_ENST00000392302.2_Missense_Mutation_p.M345I|NTRK1_ENST00000358660.3_Missense_Mutation_p.M375I|NTRK1_ENST00000368196.3_Missense_Mutation_p.M375I	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	375					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M375I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCTCCATCATGGCTGCCTTCA	0.657			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	1	Substitution - Missense(1)	lung(1)											57	38	45					1																	156843699		2195	4295	6490	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1125G>A	1.37:g.156843699G>A	ENSP00000431418:p.Met375Ile		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Nonsense_Mutation	SNP	smart_Cys-rich_flank_reg_C	p.W301*	ENST00000524377.1	37	c.902	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211467	0.79240	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.95	2.87	0.33458	Immunoglobulin-like fold (1);	0.464740	0.22245	N	0.062623	T	0.10035	0.0246	L	0.51422	1.61	0.28624	N	0.908027	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.06405	0.0;0.001;0.002;0.002	T	0.13229	-1.0517	9	.	.	.	.	6.0861	0.19968	0.223:0.139:0.6381:0.0	.	375;375;375;345	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	I	345;375;375;375	ENSP00000376120:M345I;ENSP00000357179:M375I;ENSP00000431418:M375I;ENSP00000351486:M375I	.	M	+	3	0	NTRK1	155110323	0.000000	0.05858	0.942000	0.38095	0.457000	0.32468	-0.441000	0.06879	1.531000	0.49152	0.655000	0.94253	ATG	NTRK1	-	NULL	ENSG00000198400		0.657	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0	53	0	G	NM_002529		156843699	1	tier1	-	no_errors	ENST00000497019	ensembl	human	known	74_37	nonsense	74.63	17	50	SNP	0.617	A	A	156843699	G	A	156843699	3	1	67	1	0	0	0	0	1	0	0	0	10745	1348	47	3	1285	3	NTRK1	1	156843699	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	1616348	156843699	92406922	14	18189											
OR10R2	343406	genome.wustl.edu	37	chr1	158450533	158450533	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagcaaactatgtgtccaAcaaagacaggctggtgacgg	14	7	11	9	1	0	2	0	1	0	1	1	2	1	2	1	3	4	2	1	3	5	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:158450533A>C	ENST00000368152.1	+	1	866	c.866A>C	c.(865-867)aAc>aCc	p.N289T	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TATGTGTCCAACAAAGACAGG	0.458																																																	0													176	148	158					1																	158450533		2203	4300	6503	SO:0001583	missense	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.866A>C	1.37:g.158450533A>C	ENSP00000357134:p.Asn289Thr		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N289T	ENST00000368152.1	37	c.866	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	a	8.050	0.765784	0.15983	.	.	ENSG00000198965	ENST00000368152	T	0.00084	8.75	4.23	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.10685	0.025	0.09310	N	1	B	0.22800	0.075	B	0.29524	0.103	T	0.04373	-1.0956	9	0.46703	T	0.11	.	7.2253	0.26012	0.7811:0.0:0.2189:0.0	.	289	Q8NGX6	O10R2_HUMAN	T	289	ENSP00000357134:N289T	ENSP00000357134:N289T	N	+	2	0	OR10R2	156717157	0.000000	0.05858	0.224000	0.23877	0.712000	0.41017	-0.100000	0.10990	0.118000	0.18165	0.533000	0.62120	AAC	OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198965		0.458	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	-	0	81	0	A	NM_001004472		158450533	1	tier1	-	no_errors	ENST00000368152	ensembl	human	known	74_37	missense	69.72	33	76	SNP	0.166	C	C	158450533	A	C	158450533	3	2	67	1	0	0	0	0	1	0	0	0	10956	43	2	4	868	4	OR10R2	1	158450533	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	1606834	158450533	90800088	15	18190											
OR6K6	128371	genome.wustl.edu	37	chr1	158725609	158725609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcttttccactatcAgaagagggctggttgggctg	8	11	15	7	0	1	2	1	0	0	2	2	3	2	3	1	5	0	4	1	5	3	4	rs559439148		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:158725609A>G	ENST00000368144.2	+	1	1100	c.1004A>G	c.(1003-1005)cAg>cGg	p.Q335R		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	335						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTCCACTATCAGAAGAGGGCT	0.418													A|||	1	0.000199681	0	0	5008	,	,		19386	0		0	False		,,,				2504	0.001																0													83	87	86					1																	158725609		2203	4300	6503	SO:0001583	missense	0			BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"GPCR / Class A : Olfactory receptors"	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.1004A>G	1.37:g.158725609A>G	ENSP00000357126:p.Gln335Arg		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q335R	ENST00000368144.2	37	c.1004	CCDS30904.1	1	.	.	.	.	.	.	.	.	.	.	A	7.484	0.649280	0.14516	.	.	ENSG00000180433	ENST00000368144	T	0.35048	1.33	5.26	2.92	0.33932	.	0.634090	0.12974	N	0.423879	T	0.05502	0.0145	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41288	-0.9517	10	0.27082	T	0.32	-1.0501	7.7691	0.28997	0.8182:0.0:0.1818:0.0	.	335	Q8NGW6	OR6K6_HUMAN	R	335	ENSP00000357126:Q335R	ENSP00000357126:Q335R	Q	+	2	0	OR6K6	156992233	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	1.190000	0.32126	0.440000	0.26502	-0.274000	0.10170	CAG	OR6K6	-	NULL	ENSG00000180433		0.418	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	-	0	38	0	A	NM_001005184		158725609	1	tier1	-	no_errors	ENST00000368144	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.000	G	G	158725609	A	G	158725609	3	3	67	1	0	0	0	0	1	0	0	0	11243	188	7	4	1006	4	OR6K6	1	158725609	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	275076	158725609	90525012	16	18191											
IFI16	3428	genome.wustl.edu	37	chr1	159019232	159019232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttagaaaagtgaagAcacaatctccaaaatgaatg	17	11	6	7	0	1	4	0	2	1	2	3	4	2	4	2	0	0	0	2	0	8	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:159019232A>G	ENST00000295809.7	+	9	1763	c.1508A>G	c.(1507-1509)gAc>gGc	p.D503G	IFI16_ENST00000430894.2_Missense_Mutation_p.D451G|IFI16_ENST00000340979.6_Intron|IFI16_ENST00000368132.3_Missense_Mutation_p.D447G|IFI16_ENST00000368131.4_Intron|IFI16_ENST00000359709.3_Missense_Mutation_p.D447G|IFI16_ENST00000448393.2_Intron			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	503					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AAAAGTGAAGACACAATCTCC	0.358																																																	0													15	12	13					1																	159019232		691	1567	2258	SO:0001583	missense	0			M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1508A>G	1.37:g.159019232A>G	ENSP00000295809:p.Asp503Gly		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.D503G	ENST00000295809.7	37	c.1508		1	.	.	.	.	.	.	.	.	.	.	A	6.735	0.504404	0.12822	.	.	ENSG00000163565	ENST00000295809;ENST00000368132;ENST00000430894	T;T;T	0.05925	3.37;3.45;3.37	2.4	1.27	0.21489	.	.	.	.	.	T	0.01870	0.0059	L	0.29908	0.895	0.09310	N	1	B;P	0.52316	0.369;0.952	B;P	0.47528	0.078;0.549	T	0.43245	-0.9403	9	0.24483	T	0.36	.	4.2124	0.10517	0.8312:0.0:0.1688:0.0	.	451;447	E7EPR3;Q16666-2	.;.	G	503;447;451	ENSP00000295809:D503G;ENSP00000357114:D447G;ENSP00000394935:D451G	ENSP00000295809:D503G	D	+	2	0	IFI16	157285856	0.000000	0.05858	0.003000	0.11579	0.018000	0.09664	-0.205000	0.09411	0.361000	0.24292	-0.379000	0.06801	GAC	IFI16	-	NULL	ENSG00000163565		0.358	IFI16-013	KNOWN	basic	protein_coding	IFI16	HGNC	protein_coding	OTTHUMT00000421720.1	-	0	24	0	A	NM_005531		159019232	1	tier1	-	no_errors	ENST00000295809	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.003	G	G	159019232	A	G	159019232	3	3	67	1	0	0	0	0	1	0	0	0	7538	275	10	4	1366	4	IFI16	1	159019232	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	293623	159019232	90231389	17	18192											
OR10J1	26476	genome.wustl.edu	37	chr1	159410360	159410360	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctccattgcctacctcaAgcccaagtcagagaacacca	12	7	6	16	0	2	1	2	0	0	1	3	2	3	1	6	0	5	0	6	0	4	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:159410360A>C	ENST00000423932.3	+	1	849	c.812A>C	c.(811-813)aAg>aCg	p.K271T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	271					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GCCTACCTCAAGCCCAAGTCA	0.522																																																	0													160	131	141					1																	159410360		2203	4300	6503	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.812A>C	1.37:g.159410360A>C	ENSP00000399078:p.Lys271Thr		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K271T	ENST00000423932.3	37	c.812	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166983	0.57476	.	.	ENSG00000196184	ENST00000423932	T	0.37058	1.22	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000563	T	0.31702	0.0805	L	0.38649	1.16	0.29392	N	0.862574	D	0.76494	0.999	D	0.78314	0.991	T	0.16158	-1.0412	10	0.87932	D	0	.	6.7268	0.23361	0.8957:0.0:0.1042:0.0	.	271	P30954	O10J1_HUMAN	T	271	ENSP00000399078:K271T	ENSP00000399078:K271T	K	+	2	0	OR10J1	157676984	0.009000	0.17119	1.000000	0.80357	0.986000	0.74619	0.167000	0.16602	1.962000	0.57031	0.528000	0.53228	AAG	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196184		0.522	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0	75	0	A	NM_012351		159410360	1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	missense	57.95	37	51	SNP	1.000	C	C	159410360	A	C	159410360	3	2	67	1	0	0	0	0	1	0	0	0	10949	72	3	4	814	4	OR10J1	1	159410360	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	391128	159410360	89840261	18	18193											
OR10J1	26476	genome.wustl.edu	37	chr1	159410501	159410501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcagggctgttggtgggaAgttttcctgaccatgtagga	7	12	16	6	0	0	1	0	1	0	0	1	3	1	3	2	4	1	5	2	4	2	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:159410501A>C	ENST00000423932.3	+	1	990	c.953A>C	c.(952-954)aAg>aCg	p.K318T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	318					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTTGGTGGGAAGTTTTCCTGA	0.488																																																	0													66	67	67					1																	159410501		2203	4300	6503	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.953A>C	1.37:g.159410501A>C	ENSP00000399078:p.Lys318Thr		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K318T	ENST00000423932.3	37	c.953	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.292906	0.40594	.	.	ENSG00000196184	ENST00000423932	T	0.39229	1.09	4.48	2.14	0.27477	.	0.508381	0.16299	N	0.220532	T	0.20414	0.0491	L	0.28192	0.835	0.09310	N	1	D	0.58268	0.982	P	0.52598	0.703	T	0.03922	-1.0992	10	0.66056	D	0.02	.	6.0089	0.19562	0.7901:0.0:0.2099:0.0	.	318	P30954	O10J1_HUMAN	T	318	ENSP00000399078:K318T	ENSP00000399078:K318T	K	+	2	0	OR10J1	157677125	0.578000	0.26717	0.005000	0.12908	0.018000	0.09664	3.609000	0.54117	0.327000	0.23409	-0.361000	0.07541	AAG	OR10J1	-	NULL	ENSG00000196184		0.488	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0	69	0	A	NM_012351		159410501	1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	missense	27.52	79	30	SNP	0.034	C	C	159410501	A	C	159410501	3	2	67	1	0	0	0	0	1	0	0	0	10949	72	3	4	955	4	OR10J1	1	159410501	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	141	159410501	89840120	19	18194											
OR10J5	127385	genome.wustl.edu	37	chr1	159505746	159505746	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgctttccaaagctagAaaatcccaagaaaatgaatt	17	10	6	8	0	0	4	0	2	0	2	2	4	2	4	2	0	2	2	2	0	8	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:159505746A>G	ENST00000334857.2	-	1	96	c.52T>C	c.(52-54)Tct>Cct	p.S18P		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S18P(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CCAAAGCTAGAAAATCCCAAG	0.368																																																	1	Substitution - Missense(1)	prostate(1)											77	76	76					1																	159505746		2203	4300	6503	SO:0001583	missense	0				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"GPCR / Class A : Olfactory receptors"	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.52T>C	1.37:g.159505746A>G	ENSP00000334441:p.Ser18Pro		B9EH35|Q6IFH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S18P	ENST00000334857.2	37	c.52	CCDS30910.1	1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.141749	0.37825	.	.	ENSG00000184155	ENST00000334857	T	0.00495	6.99	4.43	4.43	0.53597	.	.	.	.	.	T	0.00666	0.0022	M	0.65498	2.005	0.30113	N	0.80638	D	0.67145	0.996	D	0.68039	0.955	T	0.49133	-0.8971	9	0.72032	D	0.01	.	11.95	0.52950	1.0:0.0:0.0:0.0	.	18	Q8NHC4	O10J5_HUMAN	P	18	ENSP00000334441:S18P	ENSP00000334441:S18P	S	-	1	0	OR10J5	157772370	0.000000	0.05858	0.593000	0.28771	0.326000	0.28443	0.543000	0.23237	1.974000	0.57490	0.455000	0.32223	TCT	OR10J5	-	NULL	ENSG00000184155		0.368	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1		0	19	0	A	NM_001004469		159505746	-1			no_errors	ENST00000334857	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.935	G	G	159505746	A	G	159505746	3	3	67	1	0	0	0	0	1	0	0	0	10951	246	9	4	879	4	OR10J5	1	159505746	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	95245	159505746	89744875	20	18195											
CFHR4	3080	genome.wustl.edu	37	chr1	196884098	196884098	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcagattcttcagaaaAgtgtgggcctcctccaccta	9	14	7	11	0	3	2	2	0	1	2	5	2	5	2	4	1	0	0	4	1	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:196884098A>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Missense_Mutation_p.K210T|CFHR4_ENST00000251424.4_Missense_Mutation_p.K210T|CFHR4_ENST00000367416.2_Missense_Mutation_p.K456T|CFHR4_ENST00000608469.1_Missense_Mutation_p.K80T			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TCTTCAGAAAAGTGTGGGCCT	0.363																																																	0													38	39	38					1																	196884098		2194	4277	6471	SO:0001627	intron_variant	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34487A>C	1.37:g.196884098A>C			Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K456T	ENST00000367421.3	37	c.1367		1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334920	0.24253	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65178	-0.14;-0.14;-0.14	3.16	0.489	0.16854	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	T	0.42944	0.1225	L	0.33189	0.99	0.09310	N	1	B;P;B	0.44478	0.23;0.836;0.146	B;B;B	0.40982	0.082;0.345;0.057	T	0.23013	-1.0200	9	0.20046	T	0.44	.	2.9606	0.05891	0.6411:0.0:0.141:0.2179	.	456;457;210	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	T	456;210;210;210	ENSP00000356386:K456T;ENSP00000356388:K210T;ENSP00000251424:K210T	ENSP00000251424:K210T	K	+	2	0	CFHR4	195150721	0.000000	0.05858	0.010000	0.14722	0.464000	0.32679	0.180000	0.16860	0.205000	0.20568	0.166000	0.16787	AAG	CFHR4	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134365		0.363	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		-	0	49	0	A	NM_005666		196884098	1	tier1	-	no_errors	ENST00000367416	ensembl	human	known	74_37	missense	17.02	39	8	SNP	0.018	C	C	196884098	A	C	196884098	1	2	67	0	1	0	0	0	0	0	0	0	3294	72	3	4		4	CFHR4	1	196884098	Intron	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	37378352	196884098	52366523	21	18196											
CRB1	23418	genome.wustl.edu	37	chr1	197404057	197404057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaacagcttttatatgctaAgtctgacaagtttgcagtca	12	13	8	8	0	2	1	1	1	1	0	2	1	2	1	0	0	4	5	0	0	5	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:197404057A>C	ENST00000367400.3	+	9	3199	c.3064A>C	c.(3064-3066)Agt>Cgt	p.S1022R	CRB1_ENST00000367397.1_Missense_Mutation_p.S403R|CRB1_ENST00000367399.2_Missense_Mutation_p.S910R|CRB1_ENST00000544212.1_Missense_Mutation_p.S503R|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.S998R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1022	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTATATGCTAAGTCTGACAAG	0.413																																																	0													72	75	74					1																	197404057		2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3064A>C	1.37:g.197404057A>C	ENSP00000356370:p.Ser1022Arg		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S1022R	ENST00000367400.3	37	c.3064	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	A	8.537	0.872266	0.17322	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.44	3.16	0.36331	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.75838	0.3904	L	0.58428	1.81	0.37434	D	0.914168	P;P;B;P	0.47106	0.617;0.617;0.016;0.89	B;B;B;P	0.47299	0.173;0.173;0.026;0.543	T	0.72846	-0.4169	9	0.18710	T	0.47	.	12.3318	0.55043	0.682:0.318:0.0:0.0	.	998;910;671;1022	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	R	998;1022;910;503;403;671	ENSP00000438786:S998R;ENSP00000356370:S1022R;ENSP00000356369:S910R;ENSP00000444556:S503R;ENSP00000356367:S403R	ENSP00000356367:S403R	S	+	1	0	CRB1	195670680	1.000000	0.71417	0.114000	0.21550	0.004000	0.04260	4.794000	0.62482	0.394000	0.25230	-0.313000	0.08912	AGT	CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.413	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	40	0	A	NM_201253		197404057	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	C	C	197404057	A	C	197404057	3	2	67	1	0	0	0	0	1	0	0	0	3855	72	3	4	3098	4	CRB1	1	197404057	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	519959	197404057	51846564	22	18197											
C1orf106	55765	genome.wustl.edu	37	chr1	200878069	200878069	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagccctggagcgagtccagGtcaggatcagggggaaggga	10	4	19	8	1	2	0	2	0	0	0	3	6	3	4	2	6	2	0	2	6	1	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:200878069G>T	ENST00000367342.4	+	7	1240		c.e7+1		C1orf106_ENST00000413687.2_Splice_Site	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCGAGTCCAGGTCAGGATCAG	0.612																																																	0													17	18	18					1																	200878069		2193	4288	6481	SO:0001630	splice_region_variant	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1040+1G>T	1.37:g.200878069G>T			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Splice_Site	SNP	-	e7+1	ENST00000367342.4	37	c.1040+1		1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871973	0.33069	.	.	ENSG00000163362	ENST00000367342;ENST00000413687	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5868	0.76489	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf106	199144692	1.000000	0.71417	0.998000	0.56505	0.309000	0.27889	6.928000	0.75846	2.399000	0.81585	0.563000	0.77884	.	C1orf106	-	-	ENSG00000163362		0.612	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	-	0	53	0	G	NM_018265	Intron	200878069	1	tier1	-	no_errors	ENST00000367342	ensembl	human	known	74_37	splice_site	60.87	18	28	SNP	1.000	T	T	200878069	G	T	200878069	5	4	67	1	0	0	0	0	0	0	1	0	1987	1275	44	3	1067	3	C1orf106	1	200878069	Splice_Site	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	3474012	200878069	48372552	23	18198											
PLEKHA6	22874	genome.wustl.edu	37	chr1	204214812	204214812	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccatcacgtcctggaTcctccagatctccttttgga	6	12	6	17	1	2	1	1	0	1	1	7	3	6	3	7	2	0	0	7	2	0	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:204214812T>A	ENST00000272203.3	-	14	2279	c.1963A>T	c.(1963-1965)Atc>Ttc	p.I655F	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.I675F	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	655										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACGTCCTGGATCCTCCAGATC	0.587																																																	0													138	116	123					1																	204214812		2203	4300	6503	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1963A>T	1.37:g.204214812T>A	ENSP00000272203:p.Ile655Phe		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I655F	ENST00000272203.3	37	c.1963	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.034613	0.54896	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.81330	-1.48;-1.48	5.13	2.82	0.32997	.	0.189510	0.46442	D	0.000299	T	0.75568	0.3867	M	0.69358	2.11	0.42232	D	0.991899	B	0.27559	0.181	B	0.22880	0.042	T	0.71108	-0.4688	10	0.87932	D	0	-8.9405	8.6284	0.33904	0.0:0.1606:0.0:0.8394	.	655	Q9Y2H5	PKHA6_HUMAN	F	655;675	ENSP00000272203:I655F;ENSP00000402046:I675F	ENSP00000272203:I655F	I	-	1	0	PLEKHA6	202481435	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	3.472000	0.53114	0.311000	0.23014	-0.376000	0.06991	ATC	PLEKHA6	-	NULL	ENSG00000143850		0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	-	0	67	0	T	NM_014935		204214812	-1	tier1	-	no_errors	ENST00000272203	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	A	A	204214812	T	A	204214812	3	1	67	1	0	0	0	0	1	0	0	0	12099	1435	50	5	1219	5	PLEKHA6	1	204214812	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	3336743	204214812	45035809	24	18199											
IL19	29949	genome.wustl.edu	37	chr1	207014366	207014366	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggaacagaggcagtgTcactgcaggcaggaagccac	13	3	14	11	0	1	1	1	0	0	1	1	3	1	3	1	4	4	4	1	4	2	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:207014366T>C	ENST00000270218.6	+	6	1320	c.381T>C	c.(379-381)tgT>tgC	p.C127C	IL19_ENST00000340758.2_Silent_p.C165C	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	127					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			AGAGGCAGTGTCACTGCAGGC	0.517																																																	0													120	92	102					1																	207014366		2203	4300	6503	SO:0001819	synonymous_variant	0			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.381T>C	1.37:g.207014366T>C			B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,prints_IL-19,prints_IL-24	p.C165	ENST00000270218.6	37	c.495	CCDS1469.1	1																																																																																			IL19	-	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core	ENSG00000142224		0.517	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL19	HGNC	protein_coding	OTTHUMT00000088567.2	-	0	58	0	T	NM_153758		207014366	1	tier1	-	no_errors	ENST00000340758	ensembl	human	known	74_37	silent	26.58	58	21	SNP	0.997	C	C	207014366	T	C	207014366	2	2	67	1	0	0	0	0	0	0	0	1	7676	1673	58	4		4	IL19	1	207014366	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	2799554	207014366	42236255	25	18200											
KCNH1	3756	genome.wustl.edu	37	chr1	210977488	210977488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatagtcgtcacattcccgaAgatggtggcatagagaagtg	13	9	12	7	2	1	2	1	0	0	2	3	4	2	2	1	2	0	1	1	2	5	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:210977488A>G	ENST00000271751.4	-	8	1510	c.1483T>C	c.(1483-1485)Ttc>Ctc	p.F495L	KCNH1_ENST00000367007.4_Missense_Mutation_p.F468L			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	495					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACATTCCCGAAGATGGTGGCA	0.483																																																	0													108	97	101					1																	210977488		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1483T>C	1.37:g.210977488A>G	ENSP00000271751:p.Phe495Leu		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.F495L	ENST00000271751.4	37	c.1483	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	A	29.5	5.007660	0.93287	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97994	-4.65;-4.65	5.66	5.66	0.87406	Ion transport (1);	0.102140	0.64402	D	0.000001	D	0.98002	0.9342	L	0.55017	1.72	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.64237	0.923;0.923	D	0.99063	1.0831	10	0.72032	D	0.01	.	15.9002	0.79369	1.0:0.0:0.0:0.0	.	468;495	Q14CL3;O95259	.;KCNH1_HUMAN	L	495;468	ENSP00000271751:F495L;ENSP00000355974:F468L	ENSP00000271751:F495L	F	-	1	0	KCNH1	209044111	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	8.999000	0.93557	2.164000	0.68074	0.459000	0.35465	TTC	KCNH1	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000143473		0.483	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0	96	0	A	NM_002238		210977488	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	13.85	111	18	SNP	1.000	G	G	210977488	A	G	210977488	3	3	67	1	0	0	0	0	1	0	0	0	8058	72	3	4	1502	4	KCNH1	1	210977488	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3963122	210977488	38273133	26	18201											
USH2A	7399	genome.wustl.edu	37	chr1	216251460	216251460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacaaatgttgataagagTtcagcagttcctgtgggatt	13	12	10	6	0	1	2	1	1	0	1	2	3	2	3	1	1	2	4	1	1	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:216251460T>G	ENST00000307340.3	-	27	5929	c.5543A>C	c.(5542-5544)aAc>aCc	p.N1848T	USH2A_ENST00000366943.2_Missense_Mutation_p.N1848T|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1848	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1848T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGATAAGAGTTCAGCAGTTC	0.463										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	large_intestine(1)											80	84	83					1																	216251460		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5543A>C	1.37:g.216251460T>G	ENSP00000305941:p.Asn1848Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N1848T	ENST00000307340.3	37	c.5543	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.294179	0.40594	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77489	-1.1;-1.1	5.01	-0.455	0.12193	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.681568	0.12407	N	0.471618	T	0.62036	0.2395	L	0.43152	1.355	0.09310	N	1	B	0.27625	0.183	B	0.31495	0.131	T	0.46148	-0.9212	10	0.10111	T	0.7	.	2.1855	0.03885	0.1149:0.2055:0.119:0.5606	.	1848	O75445	USH2A_HUMAN	T	1848	ENSP00000305941:N1848T;ENSP00000355910:N1848T	ENSP00000305941:N1848T	N	-	2	0	USH2A	214318083	0.001000	0.12720	0.000000	0.03702	0.411000	0.31082	1.045000	0.30341	-0.368000	0.08040	-0.297000	0.09499	AAC	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	48	0	T	NM_007123		216251460	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	19.67	48	12	SNP	0.000	G	G	216251460	T	G	216251460	3	3	67	1	0	0	0	0	1	0	0	0	17085	1725	60	4	10249	4	USH2A	1	216251460	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	5273972	216251460	32999161	27	18202											
OR2C3	81472	genome.wustl.edu	37	chr1	247695585	247695585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgtgggacaatgcTcgtggtgaagctcatgtcca	9	9	14	9	1	1	1	1	1	0	0	3	3	2	3	1	3	3	3	1	3	2	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:247695585T>C	ENST00000366487.3	-	2	590	c.229A>G	c.(229-231)Agc>Ggc	p.S77G	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGGACAATGCTCGTGGTGAAG	0.527																																																	0													123	112	116					1																	247695585		2203	4300	6503	SO:0001583	missense	0			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"GPCR / Class A : Olfactory receptors"	15005	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily C, member 4"	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.229A>G	1.37:g.247695585T>C	ENSP00000355443:p.Ser77Gly		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S77G	ENST00000366487.3	37	c.229	CCDS1634.2	1	.	.	.	.	.	.	.	.	.	.	T	9.755	1.168404	0.21621	.	.	ENSG00000196242	ENST00000366487	T	0.01933	4.55	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.168416	0.27856	U	0.017580	T	0.08891	0.0220	M	0.92367	3.3	0.09310	N	1	P	0.52842	0.956	P	0.47528	0.549	T	0.14309	-1.0477	10	0.56958	D	0.05	.	11.2847	0.49216	0.0:0.0:0.0:1.0	.	77	Q8N628	OR2C3_HUMAN	G	77	ENSP00000355443:S77G	ENSP00000355443:S77G	S	-	1	0	OR2C3	245762208	0.000000	0.05858	0.834000	0.33040	0.048000	0.14542	-0.647000	0.05397	1.826000	0.53198	0.528000	0.53228	AGC	OR2C3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196242		0.527	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2C3	HGNC	protein_coding	OTTHUMT00000097626.2	-	0	69	0	T	NM_198074		247695585	-1	tier1	-	no_errors	ENST00000366487	ensembl	human	known	74_37	missense	27.72	73	28	SNP	0.030	C	C	247695585	T	C	247695585	3	2	67	1	0	0	0	0	1	0	0	0	11032	1551	54	4	737	4	OR2C3	1	247695585	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	31444125	247695585	1555036	28	18203											
OR2L8	391190	genome.wustl.edu	37	chr1	248112220	248112220	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggctgtttccaccatcaAgaattgaccttttcttcttc	7	16	7	11	0	3	2	1	1	2	1	5	2	4	2	3	2	0	2	3	2	2	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:248112220A>C	ENST00000357191.3	+	1	61	c.61A>C	c.(61-63)Aga>Cga	p.R21R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCCACCATCAAGAATTGACCT	0.393																																																	0													192	177	182					1																	248112220		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"GPCR / Class A : Olfactory receptors"	15014	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily L, member 8"				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.61A>C	1.37:g.248112220A>C			Q6IF03	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R21	ENST00000357191.3	37	c.61	CCDS31101.1	1																																																																																			OR2L8	-	NULL	ENSG00000196936		0.393	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	-	0	187	0	A			248112220	1	tier1	-	no_errors	ENST00000357191	ensembl	human	known	74_37	silent	22.62	130	38	SNP	0.074	C	C	248112220	A	C	248112220	2	2	67	1	0	0	0	0	0	0	0	1	11048	64	3	4		4	OR2L8	1	248112220	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	416635	248112220	1138401	29	18204											
OR2M7	391196	genome.wustl.edu	37	chr1	248487287	248487287	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgaaaataacctcttcaAatattgatgtgtcattgcat	15	14	6	6	0	3	3	2	2	1	1	3	3	3	3	1	0	2	1	1	0	5	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr1:248487287A>T	ENST00000317965.2	-	1	612	c.584T>A	c.(583-585)tTt>tAt	p.F195Y		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCTCTTCAAATATTGATGT	0.428																																																	0													231	227	228					1																	248487287		2203	4297	6500	SO:0001583	missense	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.584T>A	1.37:g.248487287A>T	ENSP00000324557:p.Phe195Tyr		B2RNL0|Q6IEX6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F195Y	ENST00000317965.2	37	c.584	CCDS31111.1	1	.	.	.	.	.	.	.	.	.	.	A	0.427	-0.905120	0.02453	.	.	ENSG00000177186	ENST00000317965	T	0.00063	8.78	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33161	U	0.005203	T	0.00073	0.0002	N	0.04297	-0.235	0.09310	N	1	B	0.25105	0.118	B	0.29785	0.107	T	0.22312	-1.0220	10	0.02654	T	1	.	7.9733	0.30140	1.0:0.0:0.0:0.0	.	195	Q8NG81	OR2M7_HUMAN	Y	195	ENSP00000324557:F195Y	ENSP00000324557:F195Y	F	-	2	0	OR2M7	246553910	0.000000	0.05858	0.166000	0.22797	0.214000	0.24535	-0.095000	0.11077	0.708000	0.31955	0.163000	0.16589	TTT	OR2M7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177186		0.428	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1	-	0	155	0	A	NM_001004691		248487287	-1	tier1	-	no_errors	ENST00000317965	ensembl	human	known	74_37	missense	11.98	169	23	SNP	0.002	T	T	248487287	A	T	248487287	3	4	67	1	0	0	0	0	1	0	0	0	11053	14	1	5	357	5	OR2M7	1	248487287	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	375067	248487287	763334	30	18205											
SNTG2	54221	genome.wustl.edu	37	chr2	1271190	1271190	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttgtatctgggtcttcaAgattttgactttgaggacca	10	15	9	7	0	3	3	1	2	2	1	3	4	3	4	1	2	1	1	1	2	3	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:1271190A>C	ENST00000308624.5	+	14	1260	c.1131A>C	c.(1129-1131)caA>caC	p.Q377H	SNTG2_ENST00000407292.1_Missense_Mutation_p.Q250H	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	377	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGGGTCTTCAAGATTTTGACT	0.522																																																	0													66	62	63					2																	1271190		1920	4133	6053	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1131A>C	2.37:g.1271190A>C	ENSP00000311837:p.Gln377His		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q377H	ENST00000308624.5	37	c.1131	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	A	5.759	0.324458	0.10900	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.69806	1.58;-0.43	4.61	-9.23	0.00672	Pleckstrin homology domain (1);	0.258099	0.32416	U	0.006128	T	0.44008	0.1273	L	0.43152	1.355	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.11329	0.006;0.002	T	0.14531	-1.0469	10	0.62326	D	0.03	.	3.2109	0.06682	0.2732:0.2668:0.3693:0.0907	.	250;377	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	H	377;250	ENSP00000311837:Q377H;ENSP00000385020:Q250H	ENSP00000311837:Q377H	Q	+	3	2	SNTG2	1253771	0.486000	0.25980	0.000000	0.03702	0.051000	0.14879	0.189000	0.17037	-2.168000	0.00778	-1.106000	0.02097	CAA	SNTG2	-	NULL	ENSG00000172554		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	86	0	A	NM_018968		1271190	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	36.49	47	27	SNP	0.000	C	C	1271190	A	C	1271190	3	2	67	1	0	0	0	0	1	0	0	0	14920	69	3	4	1185	4	SNTG2	2	1271190	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		1271190	241928183	31	18206											
APOB	338	genome.wustl.edu	37	chr2	21231710	21231710	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcactgttcagcatctggTcaatggttctgatgatcttt	7	16	9	9	0	6	2	3	2	3	0	6	2	6	2	0	2	1	4	0	2	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:21231710T>G	ENST00000233242.1	-	26	8157	c.8030A>C	c.(8029-8031)gAc>gCc	p.D2677A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2677					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCATCTGGTCAATGGTTCT	0.443																																																	0													152	157	156					2																	21231710		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8030A>C	2.37:g.21231710T>G	ENSP00000233242:p.Asp2677Ala		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D2677A	ENST00000233242.1	37	c.8030	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	18.43	3.622562	0.66787	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01197	5.19	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000014	T	0.06781	0.0173	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.03608	-1.1020	10	0.72032	D	0.01	.	15.3081	0.74008	0.0:0.0:0.0:1.0	.	2677	P04114	APOB_HUMAN	A	2677	ENSP00000233242:D2677A	ENSP00000233242:D2677A	D	-	2	0	APOB	21085215	1.000000	0.71417	0.996000	0.52242	0.716000	0.41182	7.989000	0.88205	2.020000	0.59435	0.459000	0.35465	GAC	APOB	-	NULL	ENSG00000084674		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	47	0	T			21231710	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.999	G	G	21231710	T	G	21231710	3	3	67	1	0	0	0	0	1	0	0	0	785	1667	58	4	5677	4	APOB	2	21231710	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	19960520	21231710	221967663	32	18207											
EPAS1	2034	genome.wustl.edu	37	chr2	46609651	46609651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccatctgccatcagtcccgGggagaacagcaagagcaggt	11	6	12	12	1	2	2	1	0	1	2	4	3	4	2	3	3	4	2	3	3	2	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:46609651G>A	ENST00000263734.3	+	15	2885	c.2375G>A	c.(2374-2376)gGg>gAg	p.G792E		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	792					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ATCAGTCCCGGGGAGAACAGC	0.602																																																	0													93	94	94					2																	46609651		2203	4300	6503	SO:0001583	missense	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2375G>A	2.37:g.46609651G>A	ENSP00000263734:p.Gly792Glu		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.G792E	ENST00000263734.3	37	c.2375	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	G	6.911	0.537616	0.13188	.	.	ENSG00000116016	ENST00000263734	T	0.47528	0.84	5.49	3.69	0.42338	.	1.793260	0.02794	N	0.122402	T	0.32102	0.0818	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26608	-1.0098	10	0.72032	D	0.01	.	6.6929	0.23183	0.1595:0.1462:0.6944:0.0	.	792	Q99814	EPAS1_HUMAN	E	792	ENSP00000263734:G792E	ENSP00000263734:G792E	G	+	2	0	EPAS1	46463155	0.249000	0.23941	0.041000	0.18516	0.001000	0.01503	1.403000	0.34612	0.688000	0.31529	0.655000	0.94253	GGG	EPAS1	-	NULL	ENSG00000116016		0.602	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0	34	0	G	NM_001430		46609651	1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.019	A	A	46609651	G	A	46609651	3	1	67	1	0	0	0	0	1	0	0	0	5166	1232	43	3	2433	3	EPAS1	2	46609651	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	25377941	46609651	196589722	33	18208											
FSHR	2492	genome.wustl.edu	37	chr2	49191062	49191062	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtcatataatcaacttCttgccttaaaatagatttgt	13	16	5	7	0	3	2	2	1	1	1	3	2	3	2	1	0	2	0	1	0	6	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:49191062C>A	ENST00000406846.2	-	10	1017	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	FSHR_ENST00000541117.1_Nonsense_Mutation_p.E36*|FSHR_ENST00000346173.3_Nonsense_Mutation_p.E238*|FSHR_ENST00000304421.4_Nonsense_Mutation_p.E274*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	300					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TAATCAACTTCTTGCCTTAAA	0.388									Gonadal Dysgenesis, 46 XX																																								0													142	136	138					2																	49191062		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.898G>T	2.37:g.49191062C>A	ENSP00000384708:p.Glu300*		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.E300*	ENST00000406846.2	37	c.898	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216520	0.79352	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117;ENST00000454032	.	.	.	5.53	4.66	0.58398	.	0.415931	0.26210	N	0.025699	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8388	0.52342	0.0:0.9204:0.0:0.0796	.	.	.	.	X	300;238;274;36;238	.	.	E	-	1	0	FSHR	49044566	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.599000	0.61076	1.584000	0.49913	0.655000	0.94253	GAA	FSHR	-	pfam_GnHR_TM,prints_FSH_rcpt	ENSG00000170820		0.388	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0	28	0	C			49191062	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	nonsense	17.14	29	6	SNP	1.000	A	A	49191062	C	A	49191062	4	1	67	1	0	0	0	0	0	1	0	0	6097	922	32	3	1193	3	FSHR	2	49191062	Nonsense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	2581411	49191062	194008311	34	18209											
FSHR	2492	genome.wustl.edu	37	chr2	49210248	49210248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacttacagctcatctagTtgggttccattgaatgcaca	10	13	8	10	0	2	1	1	1	1	0	3	1	3	1	1	1	4	5	1	1	4	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:49210248T>A	ENST00000406846.2	-	7	701	c.582A>T	c.(580-582)caA>caT	p.Q194H	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Missense_Mutation_p.Q194H|FSHR_ENST00000304421.4_Missense_Mutation_p.Q168H	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	194					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GCTCATCTAGTTGGGTTCCAT	0.368									Gonadal Dysgenesis, 46 XX																																								0													104	102	103					2																	49210248		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.582A>T	2.37:g.49210248T>A	ENSP00000384708:p.Gln194His		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.Q194H	ENST00000406846.2	37	c.582	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424061	0.62733	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;D;T;D	0.83673	0.43;-1.75;0.43;-1.75	5.53	4.27	0.50696	.	0.197854	0.45361	D	0.000361	T	0.78799	0.4340	N	0.16656	0.425	0.80722	D	1	B;D;B	0.76494	0.016;0.999;0.009	B;D;B	0.77004	0.016;0.989;0.012	T	0.75614	-0.3257	9	.	.	.	.	1.2283	0.01938	0.1577:0.1214:0.1874:0.5335	.	168;194;194	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	H	194;194;168;194	ENSP00000384708:Q194H;ENSP00000333908:Q194H;ENSP00000306780:Q168H;ENSP00000415504:Q194H	.	Q	-	3	2	FSHR	49063752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.960000	0.29253	0.963000	0.38082	0.533000	0.62120	CAA	FSHR	-	prints_FSH_rcpt,prints_TSH_rcpt	ENSG00000170820		0.368	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0	33	0	T			49210248	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	A	A	49210248	T	A	49210248	3	1	67	1	0	0	0	0	1	0	0	0	6097	1722	60	5	1521	5	FSHR	2	49210248	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	19186	49210248	193989125	35	18210											
SLC9A2	6549	genome.wustl.edu	37	chr2	103321003	103321003	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatatgttttcattccagActttatcctacaacagacac	12	15	3	11	0	2	2	1	0	1	2	4	2	4	2	2	0	2	1	2	0	5	8			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:103321003A>T	ENST00000233969.2	+	10	1988	c.1846A>T	c.(1846-1848)Act>Tct	p.T616S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	616					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTCATTCCAGACTTTATCCTA	0.413																																																	0													63	62	62					2																	103321003		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"Solute carriers"	11072	protein-coding gene	gene with protein product		600530	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 2", "solute carrier family 9 (sodium/hydrogen exchanger), member 2"	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1846-1A>T	2.37:g.103321003A>T			B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.T616S	ENST00000233969.2	37	c.1846	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314459	0.60524	.	.	ENSG00000115616	ENST00000233969	T	0.41758	0.99	5.25	5.25	0.73442	.	0.153261	0.64402	D	0.000015	T	0.42154	0.1190	M	0.69358	2.11	0.43761	D	0.996271	P	0.48089	0.905	B	0.39152	0.292	T	0.45702	-0.9243	9	.	.	.	.	15.4496	0.75262	1.0:0.0:0.0:0.0	.	616	Q9UBY0	SL9A2_HUMAN	S	616	ENSP00000233969:T616S	.	T	+	1	0	SLC9A2	102687435	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	6.769000	0.74985	2.097000	0.63578	0.533000	0.62120	ACT	SLC9A2	-	tigrfam_NaH_exchanger	ENSG00000115616		0.413	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	-	0	23	0	A		Missense_Mutation	103321003	1	tier1	-	no_errors	ENST00000233969	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	T	T	103321003	A	T	103321003	5	4	67	1	0	0	0	0	0	0	1	0	14757	289	10	5	1884	5	SLC9A2	2	103321003	Splice_Site	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	54110755	103321003	139878370	36	18211											
BCL2L11	10018	genome.wustl.edu	37	chr2	111881326	111881326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagaaaaaaagaccaaatgGcaaagcaaccttctgatgta	19	6	8	8	0	1	3	0	1	1	2	1	3	1	3	2	1	2	4	2	1	7	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:111881326G>T	ENST00000393256.3	+	2	277	c.4G>T	c.(4-6)Gca>Tca	p.A2S	BCL2L11_ENST00000393253.2_Missense_Mutation_p.A2S|BCL2L11_ENST00000405953.1_Missense_Mutation_p.A2S|BCL2L11_ENST00000337565.5_Missense_Mutation_p.A2S|BCL2L11_ENST00000308659.8_Missense_Mutation_p.A2S|BCL2L11_ENST00000357757.2_Missense_Mutation_p.A2S	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	2					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						AGACCAAATGGCAAAGCAACC	0.413																																																	0													40	43	42					2																	111881326		2203	4300	6503	SO:0001583	missense	0			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.4G>T	2.37:g.111881326G>T	ENSP00000376943:p.Ala2Ser		A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.A2S	ENST00000393256.3	37	c.4	CCDS2089.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161315	0.78226	.	.	ENSG00000153094	ENST00000432179;ENST00000308659;ENST00000357757;ENST00000393253;ENST00000337565;ENST00000393256;ENST00000393252;ENST00000405953	.	.	.	5.11	5.11	0.69529	.	0.000000	0.64402	D	0.000008	T	0.64616	0.2614	N	0.24115	0.695	0.44085	D	0.996842	D;D;D;D;D;D	0.76494	0.988;0.996;0.999;0.993;0.996;0.996	D;D;D;D;D;D	0.79108	0.931;0.986;0.992;0.968;0.987;0.99	T	0.69217	-0.5203	9	0.87932	D	0	-11.4857	16.3881	0.83523	0.0:0.0:1.0:0.0	.	2;2;2;2;2;2	O43521-15;O43521-11;O43521-3;O43521;O43521-2;O43521-17	.;.;.;B2L11_HUMAN;.;.	S	2	.	ENSP00000309226:A2S	A	+	1	0	BCL2L11	111597797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.294000	0.59043	2.553000	0.86117	0.313000	0.20887	GCA	BCL2L11	-	pirsf_Bcl-2-like_11	ENSG00000153094		0.413	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3		0	26	0	G			111881326	1			no_errors	ENST00000393256	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	111881326	G	T	111881326	3	4	67	1	0	0	0	0	1	0	0	0	1370	1203	42	3	6	3	BCL2L11	2	111881326	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	8560323	111881326	131318047	37	18212											
LRP1B	53353	genome.wustl.edu	37	chr2	141004684	141004684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgatcagacttgctgctcTttggggctggcctttcacac	6	14	10	11	0	3	2	2	1	1	1	3	2	3	2	1	3	2	3	1	3	1	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:141004684T>C	ENST00000389484.3	-	87	14266	c.13295A>G	c.(13294-13296)aAg>aGg	p.K4432R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4432					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGCTGCTCTTTGGGGCTGG	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													112	105	107					2																	141004684		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.13295A>G	2.37:g.141004684T>C	ENSP00000374135:p.Lys4432Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K4432R	ENST00000389484.3	37	c.13295	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.26|16.26	3.072706|3.072706	0.55646|0.55646	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.90197|.	-2.63|.	5.8|5.8	4.65|4.65	0.58169|0.58169	.|.	0.128699|.	0.50627|.	N|.	0.000118|.	T|T	0.45776|0.45776	0.1359|0.1359	L|L	0.28192|0.28192	0.835|0.835	0.35847|0.35847	D|D	0.826502|0.826502	D|.	0.69078|.	0.997|.	D|.	0.73380|.	0.98|.	T|T	0.52019|0.52019	-0.8631|-0.8631	10|5	0.20519|.	T|.	0.43|.	.|.	11.9884|11.9884	0.53161|0.53161	0.0:0.0674:0.0:0.9326|0.0:0.0674:0.0:0.9326	.|.	4432|.	Q9NZR2|.	LRP1B_HUMAN|.	R|G	4432;4370|664;202	ENSP00000374135:K4432R|.	ENSP00000374135:K4432R|.	K|R	-|-	2|1	0|2	LRP1B|LRP1B	140721154|140721154	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.844000|0.844000	0.47949|0.47949	4.364000|4.364000	0.59479|0.59479	1.026000|1.026000	0.39733|0.39733	-0.266000|-0.266000	0.10368|0.10368	AAG|AGA	LRP1B	-	NULL	ENSG00000168702		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	33	0	T	NM_018557		141004684	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	C	C	141004684	T	C	141004684	3	2	67	1	0	0	0	0	1	0	0	0	8990	1609	56	4	524	4	LRP1B	2	141004684	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	29123358	141004684	102194689	38	18213											
KIF5C	3800	genome.wustl.edu	37	chr2	149803484	149803485	+	Frame_Shift_Ins	INS	-	-	C																															acaagagaatgtagagactgINSaaaaaaaactcagtgggaaa																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:149803484_149803485insC	ENST00000435030.1	+	8	1029_1030	c.661_662insC	c.(661-663)gaafs	p.E221fs	KIF5C_ENST00000414838.2_Frame_Shift_Ins_p.E126fs|KIF5C_ENST00000397413.1_5'Flank			O60282	KIF5C_HUMAN	kinesin family member 5C	221	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TGTAGAGACTGAAAAAAAACTC	0.322																																																	0																																										SO:0001589	frameshift_variant	0			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"Kinesins"	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	Exception_encountered	2.37:g.149803484_149803485insC	ENSP00000393379:p.Glu221fs		O95079|Q2YDC5	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E221fs	ENST00000435030.1	37	c.661_662		2																																																																																			KIF5C	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000168280		0.322	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3		0	77	0	-	NM_004522		149803485	1	tier1		no_errors	ENST00000435030	ensembl	human	known	74_37	frame_shift_ins	27.54	50	19	INS	1.000:1.000	C	C	149803485	-	C	149803484	7	5	67	1	0	1	1	0	0	0	0	0	8334	1291	45	0	613	0	KIF5C	2	149803484	Frame_Shift_Ins	INS	-	TCGA-L5-A4OT-01A-11D-A28B-09	8798800	149803484	93395889	39	18214											
SCN9A	6335	genome.wustl.edu	37	chr2	167085273	167085273	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtttttccatcgcacattTtgactaacattcataagggc	11	14	7	9	1	1	1	1	1	0	0	3	1	2	1	1	2	1	2	1	2	2	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:167085273T>G	ENST00000409435.1	-	21	4133	c.4134A>C	c.(4132-4134)caA>caC	p.Q1378H	SCN9A_ENST00000375387.4_Missense_Mutation_p.Q1379H|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1367H|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1379H|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1378					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCGCACATTTTGACTAACAT	0.413																																																	0													212	210	210					2																	167085273		1916	4155	6071	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4134A>C	2.37:g.167085273T>G	ENSP00000386330:p.Gln1378His		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.Q1379H	ENST00000409435.1	37	c.4137	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835970	0.32421	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38	5.23	-8.19	0.01049	.	1.221540	0.05763	N	0.605217	D	0.91294	0.7255	N	0.25789	0.76	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.81477	-0.0915	10	0.54805	T	0.06	.	5.0496	0.14501	0.3762:0.2686:0.0:0.3552	.	1367	E7EUN6	.	H	1367;1379;1379;1378	ENSP00000386306:Q1367H;ENSP00000364536:Q1379H;ENSP00000304748:Q1379H;ENSP00000386330:Q1378H	ENSP00000304748:Q1379H	Q	-	3	2	SCN9A	166793519	0.000000	0.05858	0.008000	0.14137	0.969000	0.65631	-2.106000	0.01338	-1.042000	0.03262	-0.410000	0.06199	CAA	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.413	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	59	0	T	NM_002977		167085273	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	16.90	59	12	SNP	0.000	G	G	167085273	T	G	167085273	3	3	67	1	0	0	0	0	1	0	0	0	13970	1838	64	4	1856	4	SCN9A	2	167085273	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	17281789	167085273	76114100	40	18215											
SCN7A	6332	genome.wustl.edu	37	chr2	167327161	167327161	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttttaaaattctcaaagTtcttgcagtttgaagcgttg	12	17	7	5	1	2	1	1	1	2	0	3	1	2	1	0	0	2	4	0	0	5	8			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:167327161T>G	ENST00000409855.1	-	6	754	c.628A>C	c.(628-630)Act>Cct	p.T210P		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	210					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATTCTCAAAGTTCTTGCAGTT	0.299																																																	0													37	38	38					2																	167327161		1802	4060	5862	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.628A>C	2.37:g.167327161T>G	ENSP00000386796:p.Thr210Pro			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.T210P	ENST00000409855.1	37	c.628	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	T	26.3	4.720646	0.89205	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98617	-5.03;-5.03;-5.03	4.62	2.28	0.28536	Ion transport (1);	0.478571	0.19535	N	0.111945	D	0.97281	0.9111	L	0.40543	1.245	0.26372	N	0.97687	P	0.50819	0.939	P	0.54815	0.761	D	0.93276	0.6656	10	0.87932	D	0	.	5.1517	0.15013	0.0:0.3623:0.0:0.6376	.	210	Q01118	SCN7A_HUMAN	P	210	ENSP00000386796:T210P;ENSP00000413699:T210P;ENSP00000403846:T210P	ENSP00000259060:T210P	T	-	1	0	SCN7A	167035407	1.000000	0.71417	0.926000	0.36857	0.903000	0.53119	4.116000	0.57871	0.905000	0.36596	0.460000	0.39030	ACT	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.299	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0	46	0	T			167327161	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.763	G	G	167327161	T	G	167327161	3	3	67	1	0	0	0	0	1	0	0	0	13968	1725	60	4	4500	4	SCN7A	2	167327161	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	241888	167327161	75872212	41	18216											
XIRP2	129446	genome.wustl.edu	37	chr2	168100949	168100949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtaagaggtgatgtaagaaGctgtaggtggctttttgaaa	12	12	14	3	1	0	4	0	2	0	2	0	4	0	4	0	3	1	5	0	3	5	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:168100949G>T	ENST00000409195.1	+	9	3136	c.3047G>T	c.(3046-3048)aGc>aTc	p.S1016I	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1016I|XIRP2_ENST00000409273.1_Missense_Mutation_p.S794I|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	841					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGTAAGAAGCTGTAGGTGG	0.378																																																	0													67	62	63					2																	168100949		1860	4105	5965	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3047G>T	2.37:g.168100949G>T	ENSP00000386840:p.Ser1016Ile		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.S1016I	ENST00000409195.1	37	c.3047	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068238	0.36470	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.35789	1.29;1.29;1.29	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	L	0.57536	1.79	0.54753	D	0.999989	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.75484	0.986;0.976;0.976	T	0.55418	-0.8144	10	0.87932	D	0	-12.3507	13.3977	0.60863	0.075:0.0:0.925:0.0	.	841;841;794	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	I	1016;1016;794	ENSP00000386840:S1016I;ENSP00000295237:S1016I;ENSP00000387255:S794I	ENSP00000295237:S1016I	S	+	2	0	XIRP2	167809195	0.992000	0.36948	0.991000	0.47740	0.578000	0.36192	2.242000	0.43106	2.894000	0.99253	0.655000	0.94253	AGC	XIRP2	-	pfam_Actin-binding_Xin_repeat	ENSG00000163092		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0	27	0	G	NM_152381		168100949	1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.971	T	T	168100949	G	T	168100949	3	4	67	1	0	0	0	0	1	0	0	0	17479	971	34	3	3077	3	XIRP2	2	168100949	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	773788	168100949	75098424	42	18217											
TTN	7273	genome.wustl.edu	37	chr2	179457000	179457000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatctctaggtggcccaggTttatctaaaaagtgttaaat	13	13	9	6	0	2	1	0	0	2	1	3	1	2	1	1	3	0	2	1	3	7	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:179457000T>G	ENST00000591111.1	-	252	54932	c.54708A>C	c.(54706-54708)aaA>aaC	p.K18236N	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K10812N|TTN_ENST00000359218.5_Missense_Mutation_p.K10937N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K11004N|TTN_ENST00000342992.6_Missense_Mutation_p.K17309N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K19877N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18236					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGCCCAGGTTTATCTAAAA	0.313																																																	0													43	40	41					2																	179457000		1827	4076	5903	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54708A>C	2.37:g.179457000T>G	ENSP00000465570:p.Lys18236Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K17309N	ENST00000591111.1	37	c.51927		2	.	.	.	.	.	.	.	.	.	.	T	8.258	0.810502	0.16537	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	6.03	3.84	0.44239	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62563	0.2438	M	0.83483	2.645	0.51233	D	0.999918	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.994;0.998;0.998;0.994	T	0.62914	-0.6753	9	0.87932	D	0	.	6.9437	0.24506	0.0:0.452:0.0:0.548	.	10812;10937;11004;18236	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17309;10812;11004;10937;10810	ENSP00000343764:K17309N;ENSP00000434586:K10812N;ENSP00000340554:K11004N;ENSP00000352154:K10937N	ENSP00000340554:K11004N	K	-	3	2	TTN	179165246	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.745000	0.26259	0.650000	0.30769	0.455000	0.32223	AAA	TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom	ENSG00000155657		0.313	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	21	0	T	NM_133378		179457000	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	G	G	179457000	T	G	179457000	3	3	67	1	0	0	0	0	1	0	0	0	16784	1722	60	4	48592	4	TTN	2	179457000	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	11356051	179457000	63742373	43	18218											
TTN	7273	genome.wustl.edu	37	chr2	179459328	179459328	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtcaaagttacagtatttTtagtaacttctttgacttcc	12	17	5	7	0	2	1	1	1	1	0	3	1	3	1	1	0	2	3	1	0	6	9			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:179459328T>G	ENST00000591111.1	-	246	53194	c.52970A>C	c.(52969-52971)aAa>aCa	p.K17657T	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K10233T|TTN_ENST00000359218.5_Missense_Mutation_p.K10358T|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K10425T|TTN_ENST00000342992.6_Missense_Mutation_p.K16730T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K19298T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17657	Fibronectin type-III 28. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGTATTTTTAGTAACTTC	0.378																																																	0													94	89	91					2																	179459328		1824	4092	5916	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.52970A>C	2.37:g.179459328T>G	ENSP00000465570:p.Lys17657Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K16730T	ENST00000591111.1	37	c.50189		2	.	.	.	.	.	.	.	.	.	.	T	15.31	2.796784	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63450	0.2512	M	0.62154	1.92	0.58432	D	0.999998	P;P;P;P	0.47253	0.892;0.892;0.892;0.892	P;P;P;P	0.51055	0.657;0.657;0.657;0.657	T	0.66767	-0.5840	9	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	10233;10358;10425;17657	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	16730;10233;10425;10358;10231	ENSP00000343764:K16730T;ENSP00000434586:K10233T;ENSP00000340554:K10425T;ENSP00000352154:K10358T	ENSP00000340554:K10425T	K	-	2	0	TTN	179167574	1.000000	0.71417	0.992000	0.48379	0.909000	0.53808	7.980000	0.88113	2.302000	0.77476	0.533000	0.62120	AAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.378	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	36	0	T	NM_133378		179459328	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	G	G	179459328	T	G	179459328	3	3	67	1	0	0	0	0	1	0	0	0	16784	1841	64	4	50354	4	TTN	2	179459328	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	2328	179459328	63740045	44	18219											
TTN	7273	genome.wustl.edu	37	chr2	179586627	179586627	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaacatcattggttgctTggcaagtatattgaccagag	11	12	10	8	0	1	2	1	1	0	1	1	2	1	2	2	2	3	4	2	2	4	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:179586627T>A	ENST00000591111.1	-	76	22036	c.21812A>T	c.(21811-21813)cAa>cTa	p.Q7271L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q6344L|TTN_ENST00000589042.1_Missense_Mutation_p.Q7588L			Q8WZ42	TITIN_HUMAN	titin	12839	Ig-like 54.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGGTTGCTTGGCAAGTATA	0.403																																																	0													233	221	225					2																	179586627		1913	4128	6041	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21812A>T	2.37:g.179586627T>A	ENSP00000465570:p.Gln7271Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q6344L	ENST00000591111.1	37	c.19031		2	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665251	0.29604	.	.	ENSG00000155657	ENST00000342992	T	0.68624	-0.34	6.16	4.95	0.65309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47875	0.1469	N	0.13352	0.335	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49062	-0.8978	9	0.87932	D	0	.	8.485	0.33065	0.1294:0.0:0.1353:0.7353	.	7271	Q8WZ42	TITIN_HUMAN	L	6344	ENSP00000343764:Q6344L	ENSP00000343764:Q6344L	Q	-	2	0	TTN	179294872	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.292000	0.51772	2.367000	0.80283	0.528000	0.53228	CAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	33	0	T	NM_133378		179586627	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	A	A	179586627	T	A	179586627	3	1	67	1	0	0	0	0	1	0	0	0	16784	1812	63	5	81906	5	TTN	2	179586627	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	127299	179586627	63612746	45	18220											
TTN	7273	genome.wustl.edu	37	chr2	179623798	179623798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatcttctggataagCttcggcaatttccagttgat	8	16	7	10	1	3	1	1	1	2	0	6	2	5	2	2	2	1	3	2	2	2	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:179623798C>G	ENST00000591111.1	-	44	10440	c.10216G>C	c.(10216-10218)Gct>Cct	p.A3406P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A3360P|TTN_ENST00000359218.5_Missense_Mutation_p.A3360P|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A3406P|TTN_ENST00000342175.6_Missense_Mutation_p.A3360P|TTN_ENST00000342992.6_Missense_Mutation_p.A3406P|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A3406P			Q8WZ42	TITIN_HUMAN	titin	13722	Ig-like 20.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGATAAGCTTCGGCAATT	0.403																																																	0													141	125	130					2																	179623798		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10216G>C	2.37:g.179623798C>G	ENSP00000465570:p.Ala3406Pro		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A3406P	ENST00000591111.1	37	c.10216		2	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521295	0.64747	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000446208	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82962	0.5151	L	0.59912	1.85	0.44073	D	0.996825	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.998;1.0	D;D;D;D;D	0.74674	0.972;0.972;0.972;0.958;0.984	T	0.83212	-0.0073	9	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	3360;3360;3360;3406;3406	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	3406;3360;3360;3360;3360;3406;11	ENSP00000343764:A3406P;ENSP00000434586:A3360P;ENSP00000340554:A3360P;ENSP00000352154:A3360P;ENSP00000354117:A3406P	ENSP00000340554:A3360P	A	-	1	0	TTN	179332043	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.786000	0.85741	2.804000	0.96469	0.655000	0.94253	GCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	49	0	C	NM_133378		179623798	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	G	G	179623798	C	G	179623798	3	3	67	1	0	0	0	0	1	0	0	0	16784	797	28	5	101048	5	TTN	2	179623798	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	37171	179623798	63575575	46	18221											
ZNF385B	151126	genome.wustl.edu	37	chr2	180308086	180308086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagcgaggcagagggcCggggtgggagtgacagcgct	9	3	22	7	3	0	3	0	1	0	2	0	6	0	5	1	6	2	2	1	6	1	0	rs530550928		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:180308086C>T	ENST00000410066.1	-	10	1910	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.R334Q|ZNF385B_ENST00000336917.5_Missense_Mutation_p.R334Q|ZNF385B_ENST00000409343.1_Missense_Mutation_p.R360Q	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	436	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GGCAGAGGGCCGGGGTGGGAG	0.637													C|||	1	0.000199681	0	0	5008	,	,		15195	0.001		0	False		,,,				2504	0				Colon(155;204 2491 32774 51842)												0													25	33	31					2																	180308086		2202	4300	6502	SO:0001583	missense	0			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"zinc finger protein 533"	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1307G>A	2.37:g.180308086C>T	ENSP00000386845:p.Arg436Gln		Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.R436Q	ENST00000410066.1	37	c.1307	CCDS33339.1	2	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842259	0.32513	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.30448	1.53;1.54;1.54;1.54	5.39	5.39	0.77823	.	0.263941	0.38381	N	0.001719	T	0.40815	0.1132	L	0.29908	0.895	0.46203	D	0.998921	P;D	0.67145	0.918;0.996	B;P	0.56788	0.194;0.806	T	0.22521	-1.0214	10	0.54805	T	0.06	-19.0496	19.1606	0.93529	0.0:1.0:0.0:0.0	.	436;360	Q569K4;Q569K4-2	Z385B_HUMAN;.	Q	436;334;360;334	ENSP00000386845:R436Q;ENSP00000338225:R334Q;ENSP00000386379:R360Q;ENSP00000386507:R334Q	ENSP00000338225:R334Q	R	-	2	0	ZNF385B	180016331	1.000000	0.71417	0.924000	0.36721	0.023000	0.10783	5.703000	0.68340	2.518000	0.84900	0.561000	0.74099	CGG	ZNF385B	-	NULL	ENSG00000144331		0.637	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385B	HGNC	protein_coding	OTTHUMT00000335972.1	-	0	108	0	C	NM_152520		180308086	-1	tier1	-	no_errors	ENST00000410066	ensembl	human	known	74_37	missense	32.00	85	40	SNP	1.000	T	T	180308086	C	T	180308086	3	4	67	1	0	0	0	0	1	0	0	0	17925	652	23	1	112	1	ZNF385B	2	180308086	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	684288	180308086	62891287	47	18222											
FAM171B	165215	genome.wustl.edu	37	chr2	187559026	187559026	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctccgacctcagcctcatCcaacagcagcagcagcagca	11	4	8	18	2	2	0	2	0	0	0	4	1	4	0	4	0	7	6	4	0	1	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:187559026C>A	ENST00000304698.5	+	1	329	c.126C>A	c.(124-126)atC>atA	p.I42I	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	42				I -> IQ (in Ref. 1; BAC03660). {ECO:0000305}.|I -> IQQ (in Ref. 3; AAH60872 and 4; AAL57220). {ECO:0000305}.		integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCTCATCcaacagcagc	0.647																																																	0													17	19	19					2																	187559026		2201	4298	6499	SO:0001819	synonymous_variant	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"KIAA1946"	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.126C>A	2.37:g.187559026C>A			Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	pfam_Uncharacterised_FAM171	p.I42	ENST00000304698.5	37	c.126	CCDS33347.1	2																																																																																			FAM171B	-	NULL	ENSG00000144369		0.647	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1		0	54	0	C	NM_177454		187559026	1			no_errors	ENST00000304698	ensembl	human	known	74_37	silent	6.56	56	4	SNP	1.000	A	A	187559026	C	A	187559026	2	1	67	1	0	0	0	0	0	0	0	1	5510	845	30	3		3	FAM171B	2	187559026	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	7250940	187559026	55640347	48	18223											
DNAH7	56171	genome.wustl.edu	37	chr2	196753009	196753009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctaataaattcaacCgaaacagggaccattctgtc	13	12	6	10	1	3	0	1	0	2	0	4	2	3	1	2	1	3	1	2	1	5	5	rs201987961		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:196753009C>T	ENST00000312428.6	-	33	5479	c.5379G>A	c.(5377-5379)tcG>tcA	p.S1793S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1793	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAATTCAACCGAAACAGGGA	0.328																																																	0								C		0,3622		0,0,1811	57	52	53		5379	0.8	0.7	2		53	8,8138		0,8,4065	no	coding-synonymous	DNAH7	NM_018897.2		0,8,5876	TT,TC,CC		0.0982,0.0,0.068		1793/4025	196753009	8,11760	1811	4073	5884	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5379G>A	2.37:g.196753009C>T			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.S1793	ENST00000312428.6	37	c.5379	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	19	0	C	NM_018897		196753009	-1	tier1	rs201987961	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	25.00	11	4	SNP	0.435	T	T	196753009	C	T	196753009	2	4	67	1	0	0	0	0	0	0	0	1	4620	639	23	1		1	DNAH7	2	196753009	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	9193983	196753009	46446364	49	18224											
CCDC150	284992	genome.wustl.edu	37	chr2	197511190	197511190	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacagaccagttcactGagggatgacctaataatgtt	14	9	11	7	0	1	3	1	2	0	1	1	6	1	5	2	2	1	2	2	2	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:197511190G>T	ENST00000389175.4	+	2	273	c.138G>T	c.(136-138)ctG>ctT	p.L46L	CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000472405.2_Intron|CCDC150_ENST00000272831.7_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	46										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGTTCACTGAGGGATGACC	0.398																																																	0													119	109	112					2																	197511190		1885	4115	6000	SO:0001819	synonymous_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.138G>T	2.37:g.197511190G>T			Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	NULL	p.L46	ENST00000389175.4	37	c.138	CCDS46478.1	2																																																																																			CCDC150	-	NULL	ENSG00000144395		0.398	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	-	0	53	0	G	NM_001080539		197511190	1	tier1	-	no_errors	ENST00000389175	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.994	T	T	197511190	G	T	197511190	2	4	67	1	0	0	0	0	0	0	0	1	2792	1277	45	3		3	CCDC150	2	197511190	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	758181	197511190	45688183	50	18225											
PGAP1	80055	genome.wustl.edu	37	chr2	197705997	197705997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggagtaaaagaggaatGaagacaaagcatggaagcct	18	5	13	5	0	0	3	0	1	0	2	0	6	0	6	1	3	2	3	1	3	6	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:197705997G>T	ENST00000354764.4	-	27	2844	c.2730C>A	c.(2728-2730)ttC>ttA	p.F910L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	910					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AAAGAGGAATGAAGACAAAGC	0.378																																																	0													107	100	103					2																	197705997		2203	4300	6503	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2730C>A	2.37:g.197705997G>T	ENSP00000346809:p.Phe910Leu		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.F910L	ENST00000354764.4	37	c.2730	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	7.623	0.677135	0.14841	.	.	ENSG00000197121	ENST00000354764;ENST00000422444	.	.	.	4.89	4.0	0.46444	.	0.606015	0.17091	N	0.187386	T	0.23492	0.0568	N	0.03608	-0.345	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07214	-1.0784	9	0.08381	T	0.77	-2.1212	7.1762	0.25747	0.1494:0.1451:0.7056:0.0	.	736;910	Q75T13-2;Q75T13	.;PGAP1_HUMAN	L	910;147	.	ENSP00000346809:F910L	F	-	3	2	PGAP1	197414242	0.935000	0.31712	1.000000	0.80357	0.764000	0.43329	1.233000	0.32648	1.274000	0.44362	-0.291000	0.09656	TTC	PGAP1	-	NULL	ENSG00000197121		0.378	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5		0	36	0	G	NM_024989		197705997	-1			no_errors	ENST00000354764	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.998	T	T	197705997	G	T	197705997	3	4	67	1	0	0	0	0	1	0	0	0	11816	1281	45	3	42	3	PGAP1	2	197705997	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	194807	197705997	45493376	51	18226											
ALS2CR12	130540	genome.wustl.edu	37	chr2	202213001	202213001	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatttattagtctcttcTtgccttgctgaatggatttt	8	20	7	6	0	2	2	0	2	2	0	3	3	2	3	1	1	2	1	1	1	4	8			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:202213001T>G	ENST00000286190.5	-	3	256	c.210A>C	c.(208-210)caA>caC	p.Q70H	ALS2CR12_ENST00000439709.1_Missense_Mutation_p.Q70H|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.Q70H|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.Q70H			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	70					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TAGTCTCTTCTTGCCTTGCTG	0.433																																																	0													94	89	90					2																	202213001		2203	4300	6503	SO:0001583	missense	0			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.210A>C	2.37:g.202213001T>G	ENSP00000286190:p.Gln70His		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	superfamily_t-SNARE	p.Q70H	ENST00000286190.5	37	c.210	CCDS2346.1	2	.	.	.	.	.	.	.	.	.	.	T	12.77	2.037288	0.35893	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000425488	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	3.83	1.39	0.22231	.	0.944712	0.08786	N	0.893905	T	0.40791	0.1131	L	0.60455	1.87	0.09310	N	1	P;P	0.43094	0.799;0.799	P;P	0.44946	0.465;0.465	T	0.28202	-1.0051	10	0.42905	T	0.14	0.5473	3.6855	0.08327	0.0:0.119:0.2271:0.6539	.	70;70	Q96Q35;G5E9S3	AL2SB_HUMAN;.	H	70;70;70;70;8	ENSP00000286190:Q70H;ENSP00000385098:Q70H;ENSP00000376086:Q70H;ENSP00000412073:Q70H	ENSP00000286190:Q70H	Q	-	3	2	ALS2CR12	201921246	0.060000	0.20803	0.007000	0.13788	0.023000	0.10783	0.200000	0.17257	0.307000	0.22880	0.482000	0.46254	CAA	ALS2CR12	-	NULL	ENSG00000155749		0.433	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	ALS2CR12	HGNC	protein_coding	OTTHUMT00000256286.1	-	0	26	0	T	NM_139163		202213001	-1	tier1	-	no_errors	ENST00000286190	ensembl	human	known	74_37	missense	12.90	26	4	SNP	0.009	G	G	202213001	T	G	202213001	3	3	67	1	0	0	0	0	1	0	0	0	553	1606	56	4	1175	4	ALS2CR12	2	202213001	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	4507004	202213001	40986372	52	18227											
CPO	130749	genome.wustl.edu	37	chr2	207814372	207814372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacacagacaagagattgtgGacaagtcagtgagtccatgg	15	7	12	7	0	1	3	1	1	0	2	2	5	2	4	1	2	1	0	1	2	3	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:207814372G>A	ENST00000272852.3	+	2	146	c.100G>A	c.(100-102)Gac>Aac	p.D34N		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	34						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AGAGATTGTGGACAAGTCAGT	0.498																																																	0													139	121	127					2																	207814372		2203	4300	6503	SO:0001583	missense	0				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.100G>A	2.37:g.207814372G>A	ENSP00000272852:p.Asp34Asn		Q2M277|Q7RTW7	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.D34N	ENST00000272852.3	37	c.100	CCDS2372.1	2	.	.	.	.	.	.	.	.	.	.	G	5.554	0.287080	0.10513	.	.	ENSG00000144410	ENST00000272852	T	0.14893	2.47	3.48	3.48	0.39840	.	0.653848	0.14206	N	0.334400	T	0.10294	0.0252	N	0.12182	0.205	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.19451	-1.0305	10	0.30078	T	0.28	.	12.8408	0.57802	0.0:0.0:1.0:0.0	.	34	Q8IVL8	CBPO_HUMAN	N	34	ENSP00000272852:D34N	ENSP00000272852:D34N	D	+	1	0	CPO	207522617	1.000000	0.71417	0.104000	0.21259	0.433000	0.31745	4.685000	0.61693	1.958000	0.56883	0.455000	0.32223	GAC	CPO	-	NULL	ENSG00000144410		0.498	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	-	0	63	0	G	NM_173077		207814372	1	tier1	-	no_errors	ENST00000272852	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.211	A	A	207814372	G	A	207814372	3	1	67	1	0	0	0	0	1	0	0	0	3827	1174	41	3	106	3	CPO	2	207814372	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	5601371	207814372	35385001	53	18228											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209212734	209212734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggaccgagaatcaaggCgttgagcctcaaggtgtgtt	10	8	16	7	2	2	2	2	1	0	1	2	5	2	3	2	4	1	2	2	4	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:209212734C>T	ENST00000264380.4	+	35	5519	c.5361C>T	c.(5359-5361)ggC>ggT	p.G1787G		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1787	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGAATCAAGGCGTTGAGCCTC	0.428																																																	0													110	107	108					2																	209212734		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.5361C>T	2.37:g.209212734C>T			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.G1787	ENST00000264380.4	37	c.5361	CCDS2382.1	2																																																																																			PIKFYVE	-	NULL	ENSG00000115020		0.428	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0	36	0	C	NM_015040		209212734	1			no_errors	ENST00000264380	ensembl	human	known	74_37	silent	21.82	43	12	SNP	0.748	T	T	209212734	C	T	209212734	2	4	67	1	0	0	0	0	0	0	0	1	11963	755	27	1		1	PIKFYVE	2	209212734	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	1398362	209212734	33986639	54	18229											
MAP2	4133	genome.wustl.edu	37	chr2	210574896	210574896	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcagcttcggcttattaAccaaccactgccagacctga	12	8	7	14	1	0	2	0	1	0	1	1	2	0	2	4	1	5	3	4	1	4	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:210574896A>C	ENST00000360351.4	+	12	5497	c.4991A>C	c.(4990-4992)aAc>aCc	p.N1664T	MAP2_ENST00000199940.6_Missense_Mutation_p.N365T|MAP2_ENST00000361559.4_Missense_Mutation_p.N308T|MAP2_ENST00000447185.1_Missense_Mutation_p.N1660T|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000392194.1_Missense_Mutation_p.N308T	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1664					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CGGCTTATTAACCAACCACTG	0.488																																					Pancreas(27;423 979 28787 29963)												0													71	61	64					2																	210574896		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4991A>C	2.37:g.210574896A>C	ENSP00000353508:p.Asn1664Thr		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.N1664T	ENST00000360351.4	37	c.4991	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	A	18.51	3.639104	0.67244	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	D;D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39;-3.39	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000008	D	0.94870	0.8342	L	0.51422	1.61	0.80722	D	1	D;D;P;D;P	0.76494	0.999;0.961;0.946;0.998;0.953	D;P;P;D;P	0.74023	0.969;0.756;0.671;0.982;0.852	D	0.93029	0.6447	10	0.17832	T	0.49	-23.2208	15.7792	0.78246	1.0:0.0:0.0:0.0	.	1660;308;309;1664;365	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	T	365;1664;308;308;1660	ENSP00000199940:N365T;ENSP00000353508:N1664T;ENSP00000355290:N308T;ENSP00000376032:N308T;ENSP00000392164:N1660T	ENSP00000199940:N365T	N	+	2	0	MAP2	210283141	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	9.057000	0.93889	2.129000	0.65627	0.383000	0.25322	AAC	MAP2	-	pfam_MAP_tubulin-bd_rpt	ENSG00000078018		0.488	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	21	0	A	NM_001039538		210574896	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	47.06	9	8	SNP	1.000	C	C	210574896	A	C	210574896	3	2	67	1	0	0	0	0	1	0	0	0	9273	43	2	4	5200	4	MAP2	2	210574896	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	1362162	210574896	32624477	55	18230											
ERBB4	2066	genome.wustl.edu	37	chr2	212251663	212251663	+	Frame_Shift_Del	DEL	G	G	-																															cgttctggggcaaacacggtGgggtcagcactgtacctctg																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:212251663delG	ENST00000342788.4	-	27	3706	c.3396delC	c.(3394-3396)cccfs	p.P1132fs	ERBB4_ENST00000402597.1_Frame_Shift_Del_p.P1122fs|ERBB4_ENST00000436443.1_Frame_Shift_Del_p.P1116fs	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1132					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAAACACGGTGGGGTCAGCAC	0.527										TSP Lung(8;0.080)																																							0													153	137	142					2																	212251663		2203	4300	6503	SO:0001589	frameshift_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3396delC	2.37:g.212251663delG	ENSP00000342235:p.Pro1132fs		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.T1133fs	ENST00000342788.4	37	c.3396	CCDS2394.1	2																																																																																			ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000178568		0.527	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0	150	0	G	NM_001042599		212251663	-1			no_errors	ENST00000342788	ensembl	human	known	74_37	frame_shift_del	6.67	140	10	DEL	1.000	0	-	212251663	G	-	212251663	7	5	67	1	0	1	0	1	0	0	0	0	5225	1335	47	0	538	0	ERBB4	2	212251663	Frame_Shift_Del	DEL	G	TCGA-L5-A4OT-01A-11D-A28B-09	1676767	212251663	30947710	56	18231											
ABCA12	26154	genome.wustl.edu	37	chr2	215865498	215865498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctgggagttccttccaGtttgcaattcaatgattgct	7	17	8	9	0	1	1	1	1	0	0	4	2	4	2	3	1	2	4	3	1	2	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:215865498G>T	ENST00000272895.7	-	22	3329	c.3110C>A	c.(3109-3111)aCt>aAt	p.T1037N	ABCA12_ENST00000389661.4_Missense_Mutation_p.T719N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1037					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTCCTTCCAGTTTGCAATTC	0.423																																					Ovarian(66;664 1488 5121 34295)												0													126	131	129					2																	215865498		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3110C>A	2.37:g.215865498G>T	ENSP00000272895:p.Thr1037Asn		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1037N	ENST00000272895.7	37	c.3110	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716503	0.68844	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95756	-3.8;-3.8	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000001	D	0.97854	0.9295	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	D	0.98154	1.0443	10	0.72032	D	0.01	.	19.9082	0.97015	0.0:0.0:1.0:0.0	.	1037;719	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	N	1037;719	ENSP00000272895:T1037N;ENSP00000374312:T719N	ENSP00000272895:T1037N	T	-	2	0	ABCA12	215573743	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.488000	0.73637	2.705000	0.92388	0.555000	0.69702	ACT	ABCA12	-	NULL	ENSG00000144452		0.423	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1		0	32	0	G	NM_173076		215865498	-1			no_errors	ENST00000272895	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	215865498	G	T	215865498	3	4	67	1	0	0	0	0	1	0	0	0	30	1029	36	3	4805	3	ABCA12	2	215865498	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	3613835	215865498	27333875	57	18232											
COL6A3	1293	genome.wustl.edu	37	chr2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggacgttgcccacgCggaacgctgtggcgctgttg	4	9	15	13	5	0	0	0	0	0	0	1	2	1	2	2	3	2	5	2	3	1	2	rs371441617		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:238275437C>T	ENST00000295550.4	-	11	5845	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1798H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)											97	89	92					2																	238275437		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"Collagens"	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5393G>A	2.37:g.238275437C>T	ENSP00000295550:p.Arg1798His		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1798H	ENST00000295550.4	37	c.5393	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597341	0.28445	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.51	3.69	0.42338	von Willebrand factor, type A (3);	0.000000	0.48286	D	0.000191	D	0.86351	0.5912	N	0.26130	0.795	0.43088	D	0.994755	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.97110	1.0;0.999;0.845	T	0.83021	-0.0167	10	0.23302	T	0.38	.	14.8057	0.69952	0.263:0.737:0.0:0.0	.	1191;1592;1798	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1798;1597;1592;1191;1592;1598	ENSP00000295550:R1798H;ENSP00000315609:R1597H;ENSP00000315873:R1592H;ENSP00000418285:R1191H;ENSP00000386844:R1592H;ENSP00000295546:R1598H	ENSP00000295550:R1798H	R	-	2	0	COL6A3	237940176	1.000000	0.71417	0.506000	0.27664	0.147000	0.21601	4.669000	0.61575	0.663000	0.31027	0.650000	0.86243	CGC	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	-	0	26	0	C	NM_004369		238275437	-1	tier1	-	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	38.18	34	21	SNP	0.822	T	T	238275437	C	T	238275437	3	4	67	1	0	0	0	0	1	0	0	0	3708	768	27	1	4276	1	COL6A3	2	238275437	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	22409939	238275437	4923936	58	18233											
ASB1	51665	genome.wustl.edu	37	chr2	239355133	239355133	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgccagaccccataaagaAgtttctactccatgagtaga	13	10	7	11	0	2	4	0	1	2	3	3	4	3	4	4	0	2	2	4	0	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr2:239355133A>C	ENST00000264607.4	+	5	1236	c.989A>C	c.(988-990)aAg>aCg	p.K330T	ASB1_ENST00000409297.1_Missense_Mutation_p.K229T	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	330	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CCCATAAAGAAGTTTCTACTC	0.542																																																	0													96	93	94					2																	239355133		2203	4300	6503	SO:0001583	missense	0			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.989A>C	2.37:g.239355133A>C	ENSP00000264607:p.Lys330Thr		A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.K330T	ENST00000264607.4	37	c.989	CCDS33416.1	2	.	.	.	.	.	.	.	.	.	.	A	9.150	1.016033	0.19355	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.44482	0.92;0.92	5.63	1.99	0.26369	SOCS protein, C-terminal (3);	0.587116	0.19093	N	0.122906	T	0.18800	0.0451	N	0.13043	0.29	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.14144	-1.0483	10	0.20519	T	0.43	-17.8858	1.6313	0.02733	0.5384:0.1295:0.2073:0.1247	.	330	Q9Y576	ASB1_HUMAN	T	330;229	ENSP00000264607:K330T;ENSP00000387025:K229T	ENSP00000264607:K330T	K	+	2	0	ASB1	239019872	0.996000	0.38824	0.171000	0.22900	0.847000	0.48162	1.265000	0.33027	0.103000	0.17682	0.533000	0.62120	AAG	ASB1	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000065802		0.542	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB1	HGNC	protein_coding	OTTHUMT00000328294.1	-	0	33	0	A	NM_001040445		239355133	1	tier1	-	no_errors	ENST00000264607	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.168	C	C	239355133	A	C	239355133	3	2	67	1	0	0	0	0	1	0	0	0	1014	72	3	4	1007	4	ASB1	2	239355133	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	1079696	239355133	3844240	59	18234											
NR2C2	7182	genome.wustl.edu	37	chr3	15073950	15073950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgagtctgcatcccGtctgcttttcctctcaatgc	5	15	7	14	1	4	1	1	1	4	0	7	1	6	1	2	0	3	2	2	0	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:15073950G>A	ENST00000425241.1	+	10	1537	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H	NR2C2_ENST00000393102.3_Missense_Mutation_p.R392H|NR2C2_ENST00000323373.6_Missense_Mutation_p.R411H|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000406272.2_Missense_Mutation_p.R392H			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	392	Ligand-binding. {ECO:0000250}.				cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTGCATCCCGTCTGCTTTTC	0.547																																																	0													294	231	252					3																	15073950		2203	4300	6503	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"Nuclear hormone receptors"	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.1175G>A	3.37:g.15073950G>A	ENSP00000388387:p.Arg392His		A8K3H5|B6ZGT8|P55092	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R411H	ENST00000425241.1	37	c.1232		3	.	.	.	.	.	.	.	.	.	.	G	35	5.430923	0.96150	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272;ENST00000439011	D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26	5.68	5.68	0.88126	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	M	0.89030	3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.99406	1.0929	10	0.72032	D	0.01	.	19.8045	0.96525	0.0:0.0:1.0:0.0	.	392;411	P49116;F2YGU2	NR2C2_HUMAN;.	H	392;411;392;392;6	ENSP00000388387:R392H;ENSP00000320447:R411H;ENSP00000376814:R392H;ENSP00000384463:R392H;ENSP00000412473:R6H	ENSP00000320447:R411H	R	+	2	0	NR2C2	15048954	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.863000	0.99569	2.694000	0.91930	0.585000	0.79938	CGT	NR2C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000177463		0.547	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	-	0	93	0	G	NM_003298		15073950	1	tier1	-	no_errors	ENST00000323373	ensembl	human	known	74_37	missense	28.70	77	31	SNP	1.000	A	A	15073950	G	A	15073950	3	1	67	1	0	0	0	0	1	0	0	0	10662	1145	40	1	1270	1	NR2C2	3	15073950	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09		15073950	182948480	60	18235											
KAT2B	8850	genome.wustl.edu	37	chr3	20169040	20169040	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctcaaatgagcaagtcaAggtaagggtaaacccaaggt	17	6	10	8	0	2	1	2	1	0	0	2	1	2	1	2	3	3	3	2	3	8	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:20169040A>G	ENST00000263754.4	+	11	2203	c.1748A>G	c.(1747-1749)aAg>aGg	p.K583R		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	583	Acetyl-CoA binding. {ECO:0000269|PubMed:10393169}.|N-acetyltransferase. {ECO:0000250|UniProtKB:Q92830, ECO:0000255|PROSITE-ProRule:PRU00532}.				cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GAGCAAGTCAAGGTAAGGGTA	0.468																																																	0													153	135	141					3																	20169040		2203	4300	6503	SO:0001630	splice_region_variant	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1749+1A>G	3.37:g.20169040A>G			Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.K583R	ENST00000263754.4	37	c.1748	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	A	34	5.404672	0.96051	.	.	ENSG00000114166	ENST00000263754	T	0.28069	1.63	6.04	6.04	0.98038	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.56098	-0.8035	10	0.87932	D	0	-25.9809	16.5763	0.84648	1.0:0.0:0.0:0.0	.	583	Q92831	KAT2B_HUMAN	R	583	ENSP00000263754:K583R	ENSP00000263754:K583R	K	+	2	0	KAT2B	20144044	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	AAG	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000114166		0.468	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1		0	61	0	A	NM_003884	Missense_Mutation	20169040	1			no_errors	ENST00000263754	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	G	G	20169040	A	G	20169040	5	3	67	1	0	0	0	0	0	0	1	0	8009	86	3	4	1790	4	KAT2B	3	20169040	Splice_Site	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	5095090	20169040	177853390	61	18236											
SEMA3F	6405	genome.wustl.edu	37	chr3	50220414	50220414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctcgtctgctctgtcccGggcgaggatggcattgagac	5	9	15	12	4	2	1	0	1	2	1	4	4	3	2	1	4	1	3	1	4	0	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:50220414G>A	ENST00000002829.3	+	10	1465	c.981G>A	c.(979-981)ccG>ccA	p.P327P	SEMA3F_ENST00000413852.1_Silent_p.P228P|SEMA3F_ENST00000434342.1_Silent_p.P296P	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	327	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GCTCTGTCCCGGGCGAGGATG	0.622																																																	0													59	58	58					3																	50220414		2203	4300	6503	SO:0001819	synonymous_variant	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.981G>A	3.37:g.50220414G>A			C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Silent	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.P327	ENST00000002829.3	37	c.981	CCDS2811.1	3																																																																																			SEMA3F	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000001617		0.622	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	-	0	62	0	G	NM_004186		50220414	1	tier1	-	no_errors	ENST00000002829	ensembl	human	known	74_37	silent	26.83	30	11	SNP	0.043	A	A	50220414	G	A	50220414	2	1	67	1	0	0	0	0	0	0	0	1	14074	1103	39	1		1	SEMA3F	3	50220414	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	30051374	50220414	147802016	62	18237											
DOCK3	1795	genome.wustl.edu	37	chr3	51266099	51266099	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcctacagtgtgatgAgaatagcacgtttaataacc	12	14	8	7	1	0	2	0	2	0	1	0	3	0	2	2	0	4	2	2	0	5	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:51266099A>C	ENST00000266037.9	+	18	1678	c.1655A>C	c.(1654-1656)gAg>gCg	p.E552A		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	552	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGTGTGATGAGAATAGCACG	0.463																																																	0													107	108	108					3																	51266099		1935	4146	6081	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1655A>C	3.37:g.51266099A>C	ENSP00000266037:p.Glu552Ala		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E552A	ENST00000266037.9	37	c.1655	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	24.9	4.583390	0.86748	.	.	ENSG00000088538	ENST00000266037	T	0.14766	2.48	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07520	-1.0768	10	0.52906	T	0.07	.	15.0018	0.71479	1.0:0.0:0.0:0.0	.	552	Q8IZD9	DOCK3_HUMAN	A	552	ENSP00000266037:E552A	ENSP00000266037:E552A	E	+	2	0	DOCK3	51241139	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.006000	0.58801	0.460000	0.39030	GAG	DOCK3	-	NULL	ENSG00000088538		0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	126	0	A	NM_004947		51266099	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	25.19	101	34	SNP	1.000	C	C	51266099	A	C	51266099	3	2	67	1	0	0	0	0	1	0	0	0	4702	304	11	4	1725	4	DOCK3	3	51266099	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	1045685	51266099	146756331	63	18238											
CACNA2D3	55799	genome.wustl.edu	37	chr3	55002516	55002516	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgaatttttccaaaggaAgttctggactgccagcagac	12	11	9	9	0	1	2	0	1	1	1	2	4	2	4	2	2	2	2	2	2	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:55002516A>C	ENST00000474759.1	+	28	2537	c.2489A>C	c.(2488-2490)aAg>aCg	p.K830T	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.K830T|LRTM1_ENST00000493075.1_5'Flank|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.K736T|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.K830T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	830						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TTCCAAAGGAAGTTCTGGACT	0.383																																																	0													69	66	67					3																	55002516		1833	4084	5917	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2489A>C	3.37:g.55002516A>C	ENSP00000419101:p.Lys830Thr		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K830T	ENST00000474759.1	37	c.2489	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097422	0.37048	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.69387	0.3105	L	0.42686	1.345	0.43036	D	0.99461	B	0.20780	0.048	B	0.17098	0.017	T	0.64630	-0.6362	10	0.13470	T	0.59	.	14.3652	0.66801	1.0:0.0:0.0:0.0	.	830	Q8IZS8	CA2D3_HUMAN	T	830;830;830;736;736	ENSP00000389506:K830T;ENSP00000419101:K830T;ENSP00000288197:K830T;ENSP00000417279:K736T	ENSP00000288197:K830T	K	+	2	0	CACNA2D3	54977556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.611000	0.82962	2.207000	0.71202	0.533000	0.62120	AAG	CACNA2D3	-	NULL	ENSG00000157445		0.383	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	-	0	52	0	A			55002516	1	tier1	-	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	36.17	30	17	SNP	1.000	C	C	55002516	A	C	55002516	3	2	67	1	0	0	0	0	1	0	0	0	2557	72	3	4	2599	4	CACNA2D3	3	55002516	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3736417	55002516	143019914	64	18239											
CACNA2D3	55799	genome.wustl.edu	37	chr3	55052344	55052344	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttgtgaagactgctccaAgtaagccatccccccaccct	9	9	7	16	0	0	2	0	1	0	1	2	2	2	2	6	0	3	3	6	0	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:55052344A>C	ENST00000474759.1	+	35	3035	c.2987A>C	c.(2986-2988)aAg>aCg	p.K996T	CACNA2D3_ENST00000415676.2_Splice_Site_p.K996T|CACNA2D3_ENST00000490478.1_Splice_Site_p.K902T|CACNA2D3_ENST00000288197.5_Splice_Site_p.K996T|CACNA2D3_ENST00000478261.1_3'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	996						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GACTGCTCCAAGTAAGCCATC	0.502																																																	0													71	70	70					3																	55052344		1963	4158	6121	SO:0001630	splice_region_variant	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2987+1A>C	3.37:g.55052344A>C			B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K996T	ENST00000474759.1	37	c.2987	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	A	19.23	3.787779	0.70337	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.4	4.25	0.50352	.	0.103713	0.64402	D	0.000004	T	0.64735	0.2625	M	0.64997	1.995	0.39777	D	0.972247	D	0.67145	0.996	D	0.63703	0.917	T	0.67480	-0.5660	10	0.72032	D	0.01	-1.8211	9.6397	0.39831	0.9206:0.0:0.0794:0.0	.	996	Q8IZS8	CA2D3_HUMAN	T	996;996;996;902;902	ENSP00000389506:K996T;ENSP00000419101:K996T;ENSP00000288197:K996T;ENSP00000417279:K902T	ENSP00000288197:K996T	K	+	2	0	CACNA2D3	55027384	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.923000	0.75817	0.891000	0.36235	0.460000	0.39030	AAG	CACNA2D3	-	NULL	ENSG00000157445		0.502	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	-	0	47	0	A		Missense_Mutation	55052344	1	tier1	-	no_errors	ENST00000288197	ensembl	human	known	74_37	missense	40.62	38	26	SNP	1.000	C	C	55052344	A	C	55052344	5	2	67	1	0	0	0	0	0	0	1	0	2557	86	3	4	3125	4	CACNA2D3	3	55052344	Splice_Site	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	49828	55052344	142970086	65	18240											
SLC25A26	115286	genome.wustl.edu	37	chr3	66419918	66419918	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtggatttgccgctgcAgtcaccacccctctagacgt	8	9	10	14	2	2	1	1	0	1	1	2	2	2	2	4	2	2	2	4	2	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:66419918A>C	ENST00000413054.1	+	6	395	c.321A>C	c.(319-321)gcA>gcC	p.A107A	SLC25A26_ENST00000484768.1_3'UTR|SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000354883.6_Silent_p.A195A|SLC25A26_ENST00000336733.6_Silent_p.A107A			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	195					S-adenosyl-L-methionine transmembrane transport (GO:1901962)|S-adenosyl-L-methionine transport (GO:0015805)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	S-adenosyl-L-methionine transmembrane transporter activity (GO:0000095)			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		TTGCCGCTGCAGTCACCACCC	0.408																																																	0													98	90	93					3																	66419918		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ580932	CCDS54604.1, CCDS2905.2	3p14.2	2013-05-22	2012-03-29		ENSG00000144741	ENSG00000144741		"Solute carriers"	20661	protein-coding gene	gene with protein product		611037	"solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 26"			14674884	Standard	NM_173471		Approved		uc011bfq.2	Q70HW3	OTTHUMG00000149917	ENST00000413054.1:c.321A>C	3.37:g.66419918A>C			A8K758|B3KRZ7|Q7Z786|Q96E68	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A195	ENST00000413054.1	37	c.585		3	.	.	.	.	.	.	.	.	.	.	A	3.237	-0.156092	0.06544	.	.	ENSG00000144741	ENST00000413054	.	.	.	4.85	-6.07	0.02158	.	.	.	.	.	T	0.27559	0.0677	.	.	.	0.33442	D	0.582564	.	.	.	.	.	.	T	0.33369	-0.9871	4	.	.	.	-25.5346	1.5462	0.02566	0.3142:0.1185:0.3378:0.2295	.	.	.	.	P	132	.	.	Q	+	2	0	SLC25A26	66502608	0.001000	0.12720	0.164000	0.22755	0.389000	0.30415	-0.430000	0.06973	-1.417000	0.02017	-0.313000	0.08912	CAG	SLC25A26	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000144741		0.408	SLC25A26-002	PUTATIVE	basic|exp_conf	protein_coding	SLC25A26	HGNC	protein_coding	OTTHUMT00000313895.2	-	0	70	0	A	NM_173471		66419918	1	tier1	-	no_errors	ENST00000354883	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.053	C	C	66419918	A	C	66419918	2	2	67	1	0	0	0	0	0	0	0	1	14534	175	7	4		4	SLC25A26	3	66419918	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	11367574	66419918	131602512	66	18241											
CNTN3	5067	genome.wustl.edu	37	chr3	74347112	74347112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatgttttccataccttcTtctgcagagaacactgttgt	8	16	7	10	0	3	1	1	0	2	1	4	2	4	1	2	0	3	3	2	0	2	6	rs202118462		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:74347112T>G	ENST00000263665.6	-	17	2424	c.2397A>C	c.(2395-2397)gaA>gaC	p.E799D		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	799	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.E799D(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCATACCTTCTTCTGCAGAGA	0.358																																																	1	Substitution - Missense(1)	large_intestine(1)											118	116	117					3																	74347112		2203	4300	6503	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2397A>C	3.37:g.74347112T>G	ENSP00000263665:p.Glu799Asp		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E799D	ENST00000263665.6	37	c.2397	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728644	0.48833	.	.	ENSG00000113805	ENST00000263665	T	0.56103	0.48	5.82	-0.829	0.10796	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.86805	2.84	0.47374	D	0.999404	B	0.25521	0.128	B	0.29524	0.103	T	0.61422	-0.7066	10	0.66056	D	0.02	.	12.8491	0.57848	0.0:0.509:0.0:0.491	.	799	Q9P232	CNTN3_HUMAN	D	799	ENSP00000263665:E799D	ENSP00000263665:E799D	E	-	3	2	CNTN3	74429802	0.997000	0.39634	0.998000	0.56505	0.998000	0.95712	0.305000	0.19254	-0.093000	0.12396	0.533000	0.62120	GAA	CNTN3	-	superfamily_Fibronectin_type3	ENSG00000113805		0.358	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	34	0	T	NM_020872		74347112	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.975	G	G	74347112	T	G	74347112	3	3	67	1	0	0	0	0	1	0	0	0	3649	1606	56	4	713	4	CNTN3	3	74347112	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	7927194	74347112	123675318	67	18242											
CADM2	253559	genome.wustl.edu	37	chr3	85961683	85961683	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtagccatgcaggtgctAgaaatacactgtaagtaaac	15	8	10	8	0	0	1	0	0	0	1	0	1	0	1	1	2	5	5	1	2	7	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:85961683A>G	ENST00000407528.2	+	5	725	c.663A>G	c.(661-663)ctA>ctG	p.L221L	CADM2_ENST00000383699.3_Silent_p.L230L|CADM2_ENST00000405615.2_Silent_p.L223L	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	221					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGCAGGTGCTAGAAATACACT	0.463																																																	0													102	90	94					3																	85961683		2203	4300	6503	SO:0001819	synonymous_variant	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.663A>G	3.37:g.85961683A>G			G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.L223	ENST00000407528.2	37	c.669	CCDS54614.1	3																																																																																			CADM2	-	NULL	ENSG00000175161		0.463	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	-	0	19	0	A	NM_153184		85961683	1	tier1	-	no_errors	ENST00000405615	ensembl	human	known	74_37	silent	16.00	21	4	SNP	1.000	G	G	85961683	A	G	85961683	2	3	67	1	0	0	0	0	0	0	0	1	2574	407	15	4		4	CADM2	3	85961683	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	11614571	85961683	112060747	68	18243											
OR5H1	26341	genome.wustl.edu	37	chr3	97851669	97851669	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaccatcatggggaatcTtggtctgattgctgtcatct	8	14	9	10	0	6	1	3	1	3	0	6	2	6	2	1	3	1	1	1	3	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:97851669T>G	ENST00000354565.2	+	1	128	c.128T>G	c.(127-129)cTt>cGt	p.L43R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATGGGGAATCTTGGTCTGATT	0.413																																																	0													47	51	50					3																	97851669		2183	4265	6448	SO:0001583	missense	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"GPCR / Class A : Olfactory receptors"	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.128T>G	3.37:g.97851669T>G	ENSP00000346575:p.Leu43Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L43R	ENST00000354565.2	37	c.128	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427586	0.25726	.	.	ENSG00000231192	ENST00000354565	T	0.00433	7.43	3.63	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.187684	0.26149	N	0.026046	T	0.01287	0.0042	M	0.93594	3.435	0.23430	N	0.997695	D	0.56287	0.975	P	0.62491	0.903	T	0.22103	-1.0226	10	0.87932	D	0	.	8.2757	0.31871	0.0:0.0:0.2009:0.7991	.	43	A6NKK0	OR5H1_HUMAN	R	43	ENSP00000346575:L43R	ENSP00000346575:L43R	L	+	2	0	OR5H1	99334359	0.000000	0.05858	0.234000	0.24042	0.143000	0.21401	0.814000	0.27239	0.447000	0.26695	0.164000	0.16699	CTT	OR5H1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000231192		0.413	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	-	0	100	0	T	NM_001005338		97851669	1	tier1	-	no_errors	ENST00000354565	ensembl	human	known	74_37	missense	14.71	87	15	SNP	0.888	G	G	97851669	T	G	97851669	3	3	67	1	0	0	0	0	1	0	0	0	11198	1609	56	4	130	4	OR5H1	3	97851669	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	11889986	97851669	100170761	69	18244											
OR5H6	79295	genome.wustl.edu	37	chr3	97983369	97983369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtacttattccttgggAgtttagcctttgtggatgct	7	17	10	7	0	0	0	0	0	0	0	1	2	1	2	2	2	3	3	2	2	4	7	rs113781156		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:97983369A>G	ENST00000383696.2	+	1	282	c.241A>G	c.(241-243)Agt>Ggt	p.S81G	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTCCTTGGGAGTTTAGCCTT	0.408																																																	0													208	215	212					3																	97983369		2203	4300	6503	SO:0001583	missense	0			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"GPCR / Class A : Olfactory receptors"	14767	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily H, member 6"				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.241A>G	3.37:g.97983369A>G	ENSP00000373196:p.Ser81Gly		Q6IF88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S81G	ENST00000383696.2	37	c.241	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	10.68	1.418703	0.25552	.	.	ENSG00000230301	ENST00000383696	T	0.03004	4.08	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.994378	0.08158	N	0.988998	T	0.05502	0.0145	L	0.50333	1.59	0.09310	N	1	B	0.31174	0.311	B	0.32677	0.15	T	0.38134	-0.9675	10	0.62326	D	0.03	.	7.9658	0.30098	1.0:0.0:0.0:0.0	.	81	Q8NGV6	OR5H6_HUMAN	G	81	ENSP00000373196:S81G	ENSP00000373196:S81G	S	+	1	0	OR5H6	99466059	0.000000	0.05858	0.094000	0.20943	0.006000	0.05464	0.193000	0.17116	1.006000	0.39211	0.163000	0.16589	AGT	OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000230301		0.408	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	-	0	154	0	A			97983369	1	tier1	rs113781156	no_errors	ENST00000383696	ensembl	human	known	74_37	missense	10.71	124	15	SNP	0.100	G	G	97983369	A	G	97983369	3	3	67	1	0	0	0	0	1	0	0	0	11202	304	11	4	243	4	OR5H6	3	97983369	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	131700	97983369	100039061	70	18245											
ADPRH	141	genome.wustl.edu	37	chr3	119306346	119306346	+	Missense_Mutation	SNP	A	A	C																															caaatgggaaaattacctaaAacttagagggattttggatg																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:119306346A>C	ENST00000478399.1	+	4	2100	c.695A>C	c.(694-696)aAa>aCa	p.K232T	ADPRH_ENST00000357003.3_Missense_Mutation_p.K232T|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.K232T|ADPRH_ENST00000478927.1_Missense_Mutation_p.K232T			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	232					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AATTACCTAAAACTTAGAGGG	0.408																																					GBM(133;579 1804 5989 9967 40052)												0													66	64	64					3																	119306346		2203	4300	6503	SO:0001583	missense	0			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.695A>C	3.37:g.119306346A>C	ENSP00000420200:p.Lys232Thr		B2R8H1|D3DN83	Missense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.K232T	ENST00000478399.1	37	c.695	CCDS2990.1	3	.	.	.	.	.	.	.	.	.	.	A	15.23	2.773206	0.49680	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.93	5.93	0.95920	.	0.213104	0.48767	D	0.000165	T	0.26738	0.0654	L	0.46157	1.445	0.35770	D	0.82081	B	0.14012	0.009	B	0.15484	0.013	T	0.24476	-1.0159	10	0.28530	T	0.3	-21.4181	10.4033	0.44241	0.8362:0.1638:0.0:0.0	.	232	P54922	ADPRH_HUMAN	T	232	ENSP00000420200:K232T;ENSP00000417528:K232T;ENSP00000349496:K232T;ENSP00000417430:K232T	ENSP00000349496:K232T	K	+	2	0	ADPRH	120789036	0.546000	0.26457	1.000000	0.80357	0.993000	0.82548	1.478000	0.35442	2.281000	0.76405	0.533000	0.62120	AAA	ADPRH	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000144843		0.408	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRH	HGNC	protein_coding	OTTHUMT00000355199.1	-	0	54	0	A	NM_001125		119306346	1	tier1	-	no_errors	ENST00000357003	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	C	C	119306346	A	C	119306346	3	2	67	1	0	0	0	0	1	0	0	0	331	14	1	4	705	4	ADPRH	3	119306346	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	21322977	119306346	78716084	71	18246	75	2									
ADPRH	141	genome.wustl.edu	37	chr3	119306349	119306349	+	Missense_Mutation	SNP	T	T	G																															atgggaaaattacctaaaacTtagagggattttggatggag																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:119306349T>G	ENST00000478399.1	+	4	2103	c.698T>G	c.(697-699)cTt>cGt	p.L233R	ADPRH_ENST00000357003.3_Missense_Mutation_p.L233R|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.L233R|ADPRH_ENST00000478927.1_Missense_Mutation_p.L233R			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	233					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TACCTAAAACTTAGAGGGATT	0.408																																					GBM(133;579 1804 5989 9967 40052)												0													68	66	66					3																	119306349		2203	4300	6503	SO:0001583	missense	0			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.698T>G	3.37:g.119306349T>G	ENSP00000420200:p.Leu233Arg		B2R8H1|D3DN83	Missense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.L233R	ENST00000478399.1	37	c.698	CCDS2990.1	3	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066989	0.36470	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.93	4.79	0.61399	.	0.359455	0.27455	N	0.019295	T	0.31009	0.0783	M	0.76574	2.34	0.47905	D	0.999545	B	0.28082	0.2	B	0.28305	0.088	T	0.06881	-1.0802	10	0.16420	T	0.52	-10.4777	9.5399	0.39246	0.0:0.0812:0.0:0.9188	.	233	P54922	ADPRH_HUMAN	R	233	ENSP00000420200:L233R;ENSP00000417528:L233R;ENSP00000349496:L233R;ENSP00000417430:L233R	ENSP00000349496:L233R	L	+	2	0	ADPRH	120789039	0.171000	0.23029	1.000000	0.80357	0.985000	0.73830	0.523000	0.22925	2.281000	0.76405	0.533000	0.62120	CTT	ADPRH	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000144843		0.408	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRH	HGNC	protein_coding	OTTHUMT00000355199.1	-	0	56	0	T	NM_001125		119306349	1	tier1	-	no_errors	ENST00000357003	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.995	G	G	119306349	T	G	119306349	3	3	67	1	0	0	0	0	1	0	0	0	331	1609	56	4	708	4	ADPRH	3	119306349	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	3	119306349	78716081	72	18247	75	2									
TXNRD3IT1	645840	genome.wustl.edu	37	chr3	126291232	126291232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaacccctgtccaaaaaccTtgtctccatgttccagagag	12	9	7	13	0	1	1	0	0	1	1	4	3	3	1	6	0	2	1	6	0	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:126291232T>C	ENST00000404489.2	-	1	247	c.155A>G	c.(154-156)aAg>aGg	p.K52R	TXNRD3NB_ENST00000383572.2_Missense_Mutation_p.K52R			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	52										endometrium(1)|large_intestine(2)|skin(2)	5						TCCAAAAACCTTGTCTCCATG	0.572																																																	0													63	68	66					3																	126291232		2203	4300	6503	SO:0001583	missense	0			BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"thioredoxin reductase 3 new transcript 1"		"thioredoxin reductase 3 intronic transcript 1"	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.155A>G	3.37:g.126291232T>C	ENSP00000384071:p.Lys52Arg			Missense_Mutation	SNP	NULL	p.K52R	ENST00000404489.2	37	c.155	CCDS33846.1	3	.	.	.	.	.	.	.	.	.	.	T	1.455	-0.563958	0.03939	.	.	ENSG00000206483	ENST00000383572;ENST00000404489	.	.	.	0.661	-0.769	0.11009	.	.	.	.	.	T	0.30603	0.0770	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	P	0.62885	0.908	T	0.20207	-1.0282	7	0.87932	D	0	.	.	.	.	.	52	Q6F5E7	TR3N_HUMAN	R	52	.	ENSP00000373066:K52R	K	-	2	0	TXNRD3NB	127773922	0.009000	0.17119	0.002000	0.10522	0.001000	0.01503	0.782000	0.26788	-0.310000	0.08766	-0.456000	0.05471	AAG	TXNRD3NB	-	NULL	ENSG00000206483		0.572	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNRD3NB	HGNC	protein_coding	OTTHUMT00000370233.2	-	0	32	0	T	NM_001039783		126291232	-1	tier1	-	no_errors	ENST00000383572	ensembl	human	known	74_37	missense	15.69	43	8	SNP	0.003	C	C	126291232	T	C	126291232	3	2	67	1	0	0	0	0	1	0	0	0	16858	1609	56	4	254	4	TXNRD3IT1	3	126291232	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	6984883	126291232	71731198	73	18248											
EPHB1	2047	genome.wustl.edu	37	chr3	134920329	134920329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacagcaaaatgacgggcAgttcaccgtgatccagcttg	12	9	10	10	2	1	2	1	2	0	0	2	2	2	2	2	1	3	4	2	1	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:134920329A>G	ENST00000398015.3	+	12	2514	c.2144A>G	c.(2143-2145)cAg>cGg	p.Q715R	EPHB1_ENST00000493838.1_Missense_Mutation_p.Q276R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AATGACGGGCAGTTCACCGTG	0.527																																																	0													195	194	194					3																	134920329		2200	4300	6500	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2144A>G	3.37:g.134920329A>G	ENSP00000381097:p.Gln715Arg		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Q715R	ENST00000398015.3	37	c.2144	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940328	0.52972	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.82344	-1.6;-1.6	5.52	5.52	0.82312	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82282	0.5003	N	0.10707	0.03	0.80722	D	1	D	0.63880	0.993	D	0.77557	0.99	D	0.85213	0.1022	10	0.46703	T	0.11	.	15.6001	0.76616	1.0:0.0:0.0:0.0	.	715	P54762	EPHB1_HUMAN	R	715;276	ENSP00000381097:Q715R;ENSP00000419574:Q276R	ENSP00000381097:Q715R	Q	+	2	0	EPHB1	136403019	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	9.263000	0.95617	2.224000	0.72417	0.460000	0.39030	CAG	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154928		0.527	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	44	0	A	NM_004441		134920329	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	G	G	134920329	A	G	134920329	3	3	67	1	0	0	0	0	1	0	0	0	5190	188	7	4	2190	4	EPHB1	3	134920329	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	8629097	134920329	63102101	74	18249											
SI	6476	genome.wustl.edu	37	chr3	164710181	164710181	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggttggtttttcatcaaAgaacctcgacaaaattatca	14	12	6	9	1	3	1	3	0	0	1	4	2	3	1	2	2	1	2	2	2	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:164710181A>T	ENST00000264382.3	-	42	4908	c.4846T>A	c.(4846-4848)Ttt>Att	p.F1616I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1616	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTTTCATCAAAGAACCTCGAC	0.318										HNSCC(35;0.089)																																							0													38	39	38					3																	164710181		2203	4299	6502	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4846T>A	3.37:g.164710181A>T	ENSP00000264382:p.Phe1616Ile		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.F1616I	ENST00000264382.3	37	c.4846	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	4.956	0.177673	0.09443	.	.	ENSG00000090402	ENST00000264382	D	0.91180	-2.8	4.88	4.88	0.63580	.	0.638987	0.16906	N	0.194705	T	0.79405	0.4440	N	0.25144	0.715	0.21105	N	0.999783	B	0.12630	0.006	B	0.15870	0.014	T	0.60994	-0.7152	10	0.15066	T	0.55	.	2.1835	0.03880	0.5934:0.164:0.0855:0.1571	.	1616	P14410	SUIS_HUMAN	I	1616	ENSP00000264382:F1616I	ENSP00000264382:F1616I	F	-	1	0	SI	166192875	0.926000	0.31397	0.882000	0.34594	0.646000	0.38490	1.090000	0.30902	2.169000	0.68431	0.528000	0.53228	TTT	SI	-	pfam_Glyco_hydro_31	ENSG00000090402		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	32	0	A	NM_001041		164710181	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.290	T	T	164710181	A	T	164710181	3	4	67	1	0	0	0	0	1	0	0	0	14342	72	3	5	665	5	SI	3	164710181	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	29789852	164710181	33312249	75	18250											
LRRC31	79782	genome.wustl.edu	37	chr3	169574569	169574569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttgctccctttttggaaCttctgaaggatcagaggcaa	10	13	9	9	0	3	2	1	1	2	1	4	4	4	4	1	3	2	2	1	3	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:169574569C>A	ENST00000316428.5	-	4	636	c.579G>T	c.(577-579)aaG>aaT	p.K193N	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.K193N|LRRC31_ENST00000264676.5_Missense_Mutation_p.K137N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	193										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTTTTGGAACTTCTGAAGGA	0.403																																																	0													108	99	102					3																	169574569		1836	4093	5929	SO:0001583	missense	0			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.579G>T	3.37:g.169574569C>A	ENSP00000325978:p.Lys193Asn		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.K193N	ENST00000316428.5	37	c.579	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	C	2.927	-0.221958	0.06061	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.52057	0.68;0.68;0.68	4.71	-4.51	0.03483	.	1.198120	0.05740	N	0.601204	T	0.24509	0.0594	N	0.16266	0.395	0.09310	N	1	B;B	0.17038	0.007;0.02	B;B	0.14578	0.011;0.01	T	0.13415	-1.0510	10	0.27082	T	0.32	-21.8508	2.5123	0.04659	0.1163:0.1515:0.2306:0.5016	.	137;193	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	N	193;137;193	ENSP00000325978:K193N;ENSP00000264676:K137N;ENSP00000429145:K193N	ENSP00000264676:K137N	K	-	3	2	LRRC31	171057263	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.094000	0.03359	-0.459000	0.07013	0.650000	0.86243	AAG	LRRC31	-	NULL	ENSG00000114248		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	-	0	34	0	C	NM_024727		169574569	-1	tier1	-	no_errors	ENST00000316428	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.000	A	A	169574569	C	A	169574569	3	1	67	1	0	0	0	0	1	0	0	0	9021	564	20	3	1103	3	LRRC31	3	169574569	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	4864388	169574569	28447861	76	18251											
DCUN1D1	54165	genome.wustl.edu	37	chr3	182683508	182683508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagatcataaactgacGaactttatccttctgcgatg	12	13	8	8	2	2	3	1	2	1	1	3	5	3	3	1	0	3	0	1	0	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr3:182683508G>T	ENST00000292782.4	-	2	190	c.37C>A	c.(37-39)Cgt>Agt	p.R13S	DCUN1D1_ENST00000469954.1_5'UTR	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	13	UBA-like.					ubiquitin ligase complex (GO:0000151)		p.R13C(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATAAACTGACGAACTTTATCC	0.308																																																	1	Substitution - Missense(1)	large_intestine(1)											105	108	107					3																	182683508		2203	4299	6502	SO:0001583	missense	0			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"squamous cell carcinoma related oncogene"	605905	"DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.37C>A	3.37:g.182683508G>T	ENSP00000292782:p.Arg13Ser		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	pfam_PONY_dom,superfamily_UBA-like	p.R13S	ENST00000292782.4	37	c.37	CCDS3240.1	3	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941998	0.92526	.	.	ENSG00000043093	ENST00000292782;ENST00000458486	.	.	.	5.84	5.84	0.93424	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	L	0.45422	1.42	0.80722	D	1	P	0.42871	0.792	B	0.43575	0.424	T	0.53027	-0.8496	9	0.33940	T	0.23	-6.3724	20.1294	0.97995	0.0:0.0:1.0:0.0	.	13	Q96GG9	DCNL1_HUMAN	S	13	.	ENSP00000292782:R13S	R	-	1	0	DCUN1D1	184166202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.758000	0.94735	0.591000	0.81541	CGT	DCUN1D1	-	superfamily_UBA-like	ENSG00000043093		0.308	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D1	HGNC	protein_coding	OTTHUMT00000350658.1		0	19	0	G	NM_020640		182683508	-1			no_errors	ENST00000292782	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	182683508	G	T	182683508	3	4	67	1	0	0	0	0	1	0	0	0	4322	1058	37	2	766	2	DCUN1D1	3	182683508	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	13108939	182683508	15338922	77	18252											
ADD1	118	genome.wustl.edu	37	chr4	2930143	2930143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgaggagggggccgccGcggaccctggcagcgatggg	5	4	20	12	5	0	0	0	0	0	0	1	4	0	2	3	6	1	1	3	6	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:2930143G>A	ENST00000398129.1	+	14	2127	c.2107G>A	c.(2107-2109)Gcg>Acg	p.A703T	ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.A703T|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.A734T|ADD1_ENST00000513328.2_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	703					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGGCCGCCGCGGACCCTGG	0.647																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													43	57	52					4																	2930143		2198	4292	6490	SO:0001583	missense	0			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2107G>A	4.37:g.2930143G>A	ENSP00000381197:p.Ala703Thr		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.A734T	ENST00000398129.1	37	c.2200	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	8.893	0.954430	0.18431	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398129	T;T;T	0.04917	3.53;3.54;3.54	5.08	2.38	0.29361	.	1.010250	0.07960	N	0.982250	T	0.05044	0.0135	N	0.19112	0.55	0.09310	N	1	B;B	0.17268	0.012;0.021	B;B	0.16722	0.007;0.016	T	0.48801	-0.9003	10	0.18276	T	0.48	-0.1272	9.6069	0.39639	0.2253:0.0:0.7747:0.0	.	703;734	P35611;P35611-3	ADDA_HUMAN;.	T	734;703;703	ENSP00000264758:A734T;ENSP00000399828:A703T;ENSP00000381197:A703T	ENSP00000264758:A734T	A	+	1	0	ADD1	2899941	0.293000	0.24371	0.001000	0.08648	0.080000	0.17528	3.262000	0.51538	0.161000	0.19458	-0.140000	0.14226	GCG	ADD1	-	NULL	ENSG00000087274		0.647	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	-	0	42	0	G	NM_014189		2930143	1	tier1	-	no_errors	ENST00000264758	ensembl	human	known	74_37	missense	51.72	14	15	SNP	0.002	A	A	2930143	G	A	2930143	3	1	67	1	0	0	0	0	1	0	0	0	304	1087	38	1	2292	1	ADD1	4	2930143	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09		2930143	188224133	78	18253											
STK32B	55351	genome.wustl.edu	37	chr4	5468497	5468497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaatccaagccacttcAcaaaaagaagaagcgattgg	17	7	8	9	1	2	3	1	0	1	3	3	4	3	3	2	1	2	0	2	1	7	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:5468497A>G	ENST00000282908.5	+	10	1399	c.977A>G	c.(976-978)cAc>cGc	p.H326R	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.H279R|STK32B_ENST00000512636.1_Missense_Mutation_p.H249R	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						AAGCCACTTCACAAAAAGAAG	0.483																																																	0													75	73	74					4																	5468497		2203	4300	6503	SO:0001583	missense	0			AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.977A>G	4.37:g.5468497A>G	ENSP00000282908:p.His326Arg			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H326R	ENST00000282908.5	37	c.977	CCDS3380.1	4	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044390	0.75732	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.23552	1.9;1.9;1.9	4.95	4.95	0.65309	.	0.000000	0.43416	U	0.000575	T	0.48429	0.1499	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48703	-0.9012	10	0.54805	T	0.06	.	13.4591	0.61217	1.0:0.0:0.0:0.0	.	326	Q9NY57	ST32B_HUMAN	R	326;249;279	ENSP00000282908:H326R;ENSP00000423209:H249R;ENSP00000420984:H279R	ENSP00000282908:H326R	H	+	2	0	STK32B	5519398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.867000	0.87062	1.862000	0.54008	0.472000	0.43445	CAC	STK32B	-	NULL	ENSG00000152953		0.483	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32B	HGNC	protein_coding	OTTHUMT00000206854.4	-	0	23	0	A	NM_018401		5468497	1	tier1	-	no_errors	ENST00000282908	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	G	G	5468497	A	G	5468497	3	3	67	1	0	0	0	0	1	0	0	0	15345	159	6	4	1015	4	STK32B	4	5468497	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	2538354	5468497	185685779	79	18254											
EVC	2121	genome.wustl.edu	37	chr4	5812093	5812093	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaaggactaaaaggaagaAgcccctgccccaggaaagag	16	3	11	11	0	0	2	0	0	0	2	0	5	0	5	5	3	2	0	5	3	6	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:5812093A>C	ENST00000264956.6	+	20	2994	c.2810A>C	c.(2809-2811)aAg>aCg	p.K937T	EVC_ENST00000382674.2_Missense_Mutation_p.K937T	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	937					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AAAAGGAAGAAGCCCCTGCCC	0.577																																																	0													42	47	45					4																	5812093		2203	4300	6503	SO:0001583	missense	0			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2810A>C	4.37:g.5812093A>C	ENSP00000264956:p.Lys937Thr			Missense_Mutation	SNP	NULL	p.K937T	ENST00000264956.6	37	c.2810	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177404	0.38413	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.58060	0.36;0.36	4.91	3.74	0.42951	.	0.395100	0.22285	N	0.062074	T	0.57330	0.2046	L	0.38175	1.15	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.56117	-0.8032	10	0.59425	D	0.04	.	7.0191	0.24904	0.8962:0.0:0.1038:0.0	.	937	P57679	EVC_HUMAN	T	937	ENSP00000264956:K937T;ENSP00000372120:K937T	ENSP00000264956:K937T	K	+	2	0	EVC	5862994	0.975000	0.34042	0.978000	0.43139	0.088000	0.18126	2.524000	0.45589	0.739000	0.32628	0.528000	0.53228	AAG	EVC	-	NULL	ENSG00000072840		0.577	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	-	0	31	0	A			5812093	1	tier1	-	no_errors	ENST00000264956	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.974	C	C	5812093	A	C	5812093	3	2	67	1	0	0	0	0	1	0	0	0	5301	72	3	4	2888	4	EVC	4	5812093	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	343596	5812093	185342183	80	18255											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6087238	6087238	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcggcctccttgacctgaAccagctgctcatccaaagcc	8	8	8	17	1	1	2	1	2	0	0	4	2	3	2	6	1	4	3	6	1	2	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:6087238A>C	ENST00000282924.5	-	4	1228	c.743T>G	c.(742-744)gTt>gGt	p.V248G	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.V248G|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.V83G|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.V248G|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.V83G	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	248	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTGACCTGAACCAGCTGCTC	0.607																																																	0													103	104	103					4																	6087238		2203	4300	6503	SO:0001583	missense	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.743T>G	4.37:g.6087238A>C	ENSP00000282924:p.Val248Gly		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.V248G	ENST00000282924.5	37	c.743	CCDS3385.1	4	.	.	.	.	.	.	.	.	.	.	A	10.23	1.293893	0.23564	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	4.1	2.89	0.33648	.	0.108216	0.39020	N	0.001500	T	0.23886	0.0578	L	0.31294	0.92	0.58432	D	0.999993	B;B;B;B;B	0.12013	0.005;0.002;0.002;0.002;0.002	B;B;B;B;B	0.09377	0.001;0.004;0.002;0.001;0.004	T	0.04781	-1.0927	10	0.25106	T	0.35	.	9.9299	0.41517	0.8283:0.1716:0.0:0.0	.	83;248;83;248;248	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	G	248;83;248;248;140;248;248;83	ENSP00000386711:V248G;ENSP00000387042:V83G;ENSP00000282924:V248G;ENSP00000386925:V248G;ENSP00000386745:V83G	ENSP00000282924:V248G	V	-	2	0	JAKMIP1	6138139	1.000000	0.71417	0.993000	0.49108	0.932000	0.56968	4.577000	0.60922	0.624000	0.30286	-0.313000	0.08912	GTT	JAKMIP1	-	NULL	ENSG00000152969		0.607	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	-	0	44	0	A	NM_144720		6087238	-1	tier1	-	no_errors	ENST00000409021	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.998	C	C	6087238	A	C	6087238	3	2	67	1	0	0	0	0	1	0	0	0	7967	43	2	4	1899	4	JAKMIP1	4	6087238	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	275145	6087238	185067038	81	18256											
C1QTNF7	114905	genome.wustl.edu	37	chr4	15444285	15444285	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctgcagccagaagatgaAgtctggctggagattttctt	10	13	11	7	0	3	4	0	1	3	3	3	5	3	4	1	2	2	2	1	2	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:15444285A>C	ENST00000444304.2	+	3	1058	c.732A>C	c.(730-732)gaA>gaC	p.E244D	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E244D|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.E251D			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	244	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CAGAAGATGAAGTCTGGCTGG	0.498																																																	0													80	86	84					4																	15444285		2203	4300	6503	SO:0001583	missense	0			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.732A>C	4.37:g.15444285A>C	ENSP00000388914:p.Glu244Asp		B2RBT3|J3KPW3	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.E244D	ENST00000444304.2	37	c.732	CCDS3414.1	4	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049804	0.75846	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	T;T;T	0.77358	-1.09;-1.09;-1.09	6.02	-0.408	0.12381	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.90309	3.105	0.47245	D	0.999369	D	0.69078	0.997	D	0.76071	0.987	D	0.85604	0.1254	9	.	.	.	.	9.86	0.41109	0.6623:0.0:0.3377:0.0	.	244	Q9BXJ2	C1QT7_HUMAN	D	251;244;244	ENSP00000295297:E251D;ENSP00000410722:E244D;ENSP00000388914:E244D	.	E	+	3	2	C1QTNF7	15053383	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	1.376000	0.34306	-0.251000	0.09542	0.533000	0.62120	GAA	C1QTNF7	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000163145		0.498	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1QTNF7	HGNC	protein_coding	OTTHUMT00000250891.2	-	0	41	0	A			15444285	1	tier1	-	no_errors	ENST00000429690	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	C	C	15444285	A	C	15444285	3	2	67	1	0	0	0	0	1	0	0	0	1975	69	3	4	763	4	C1QTNF7	4	15444285	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	9357047	15444285	175709991	82	18257											
ANAPC4	29945	genome.wustl.edu	37	chr4	25419982	25419982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcattaaagtggaaaaacTtgaccctgagctagactcct	14	10	8	9	0	1	3	1	2	0	1	2	4	2	4	2	1	2	1	2	1	5	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:25419982T>G	ENST00000315368.3	+	29	2547	c.2405T>G	c.(2404-2406)cTt>cGt	p.L802R	ANAPC4_ENST00000510092.1_Missense_Mutation_p.L803R	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	802					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTGGAAAAACTTGACCCTGAG	0.433																																																	0													56	58	57					4																	25419982		2203	4300	6503	SO:0001583	missense	0			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.2405T>G	4.37:g.25419982T>G	ENSP00000318775:p.Leu802Arg		A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.L803R	ENST00000315368.3	37	c.2408	CCDS3434.1	4	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604877	0.66445	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.41065	1.01;1.01	5.74	1.97	0.26223	.	0.982303	0.08375	N	0.955450	T	0.24236	0.0587	N	0.14661	0.345	0.09310	N	0.999992	B	0.23650	0.089	B	0.22152	0.038	T	0.23904	-1.0175	10	0.62326	D	0.03	-3.5343	3.4967	0.07657	0.2476:0.179:0.0:0.5733	.	802	Q9UJX5	APC4_HUMAN	R	802;803	ENSP00000318775:L802R;ENSP00000426654:L803R	ENSP00000318775:L802R	L	+	2	0	ANAPC4	25029080	0.027000	0.19231	0.266000	0.24541	0.993000	0.82548	0.459000	0.21908	1.113000	0.41760	0.523000	0.50628	CTT	ANAPC4	-	pirsf_APC4_metazoa	ENSG00000053900		0.433	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	HGNC	protein_coding	OTTHUMT00000214986.1	-	0	39	0	T	NM_013367		25419982	1	tier1	-	no_errors	ENST00000510092	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.336	G	G	25419982	T	G	25419982	3	3	67	1	0	0	0	0	1	0	0	0	604	1609	56	4	2515	4	ANAPC4	4	25419982	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	9975697	25419982	165734294	83	18258											
ATP10D	57205	genome.wustl.edu	37	chr4	47570977	47570977	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcccccgggactcagggTtacgagctggactcattatc	7	10	11	13	2	2	0	2	0	0	0	4	3	3	2	2	3	2	2	2	3	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:47570977T>G	ENST00000273859.3	+	16	3246	c.2977T>G	c.(2977-2979)Tta>Gta	p.L993V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	993					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGACTCAGGGTTACGAGCTGG	0.478																																																	0													72	79	77					4																	47570977		2203	4300	6503	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.2977T>G	4.37:g.47570977T>G	ENSP00000273859:p.Leu993Val		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L993V	ENST00000273859.3	37	c.2977	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	T	4.619	0.115030	0.08831	.	.	ENSG00000145246	ENST00000273859	D	0.87256	-2.23	4.89	3.12	0.35913	HAD-like domain (1);	0.687303	0.14997	N	0.286323	T	0.77039	0.4072	N	0.20881	0.62	0.09310	N	0.999997	B	0.27264	0.173	B	0.32022	0.139	T	0.64188	-0.6466	10	0.33940	T	0.23	-0.0728	5.0625	0.14564	0.1698:0.6378:0.0:0.1924	.	993	Q9P241	AT10D_HUMAN	V	993	ENSP00000273859:L993V	ENSP00000273859:L993V	L	+	1	2	ATP10D	47265734	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.300000	0.19156	0.629000	0.30376	-1.293000	0.01348	TTA	ATP10D	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.478	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	51	0	T	NM_020453		47570977	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.001	G	G	47570977	T	G	47570977	3	3	67	1	0	0	0	0	1	0	0	0	1119	1722	60	4	3035	4	ATP10D	4	47570977	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	22150995	47570977	143583299	84	18259											
MUC7	4589	genome.wustl.edu	37	chr4	71347210	71347210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactacaccagctccactatCttcctcagctccaccagaga	12	8	4	17	0	2	1	1	0	1	1	5	2	5	1	5	0	4	2	5	0	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:71347210C>T	ENST00000304887.5	+	3	939	c.749C>T	c.(748-750)tCt>tTt	p.S250F	MUC7_ENST00000456088.1_Missense_Mutation_p.S250F|MUC7_ENST00000413702.1_Missense_Mutation_p.S250F	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	250	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCTCCACTATCTTCCTCAGCT	0.587																																																	0													503	413	443					4																	71347210		2203	4300	6503	SO:0001583	missense	0			BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"Mucins"	7518	protein-coding gene	gene with protein product		158375	"mucin 7, salivary"			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.749C>T	4.37:g.71347210C>T	ENSP00000302021:p.Ser250Phe		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	NULL	p.S250F	ENST00000304887.5	37	c.749	CCDS3541.1	4	.	.	.	.	.	.	.	.	.	.	C	8.086	0.773433	0.16051	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.54866	0.55;0.55;0.55	1.06	0.0161	0.14106	.	.	.	.	.	T	0.27313	0.0670	N	0.08118	0	0.09310	N	1	P	0.39782	0.688	B	0.38616	0.277	T	0.13415	-1.0510	8	.	.	.	.	5.8433	0.18645	0.3111:0.6888:0.0:0.0	.	250	Q8TAX7	MUC7_HUMAN	F	250	ENSP00000407422:S250F;ENSP00000400585:S250F;ENSP00000302021:S250F	.	S	+	2	0	MUC7	71381799	0.011000	0.17503	0.009000	0.14445	0.088000	0.18126	1.734000	0.38166	-0.025000	0.13918	0.467000	0.42956	TCT	MUC7	-	NULL	ENSG00000171195		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC7	HGNC	protein_coding	OTTHUMT00000252168.2	-	0	102	0	C	NM_152291		71347210	1	tier1	-	no_errors	ENST00000304887	ensembl	human	known	74_37	missense	66.00	34	66	SNP	0.082	T	T	71347210	C	T	71347210	3	4	67	1	0	0	0	0	1	0	0	0	10019	913	32	3	755	3	MUC7	4	71347210	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	23776233	71347210	119807066	85	18260											
NAA11	84779	genome.wustl.edu	37	chr4	80246448	80246448	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttcggtagccgggttcTtttgctgacaggcctcttca	4	16	10	11	2	4	1	1	1	3	0	5	1	4	1	2	3	2	3	2	3	1	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:80246448T>G	ENST00000286794.4	-	1	756	c.584A>C	c.(583-585)aAg>aCg	p.K195T	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	195					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						AGCCGGGTTCTTTTGCTGACA	0.557																																																	0													48	51	50					4																	80246448		1991	4181	6172	SO:0001583	missense	0				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.584A>C	4.37:g.80246448T>G	ENSP00000286794:p.Lys195Thr		Q66K19|Q6P479	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.K195T	ENST00000286794.4	37	c.584	CCDS47084.1	4	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807685	0.31961	.	.	ENSG00000156269	ENST00000286794	T	0.56611	0.45	5.17	-2.35	0.06684	.	0.706517	0.14009	U	0.347619	T	0.26991	0.0661	N	0.24115	0.695	0.09310	N	1	P	0.37914	0.611	B	0.33750	0.169	T	0.12682	-1.0538	10	0.32370	T	0.25	-2.5945	2.8218	0.05473	0.1205:0.153:0.4445:0.282	.	195	Q9BSU3	NAA11_HUMAN	T	195	ENSP00000286794:K195T	ENSP00000286794:K195T	K	-	2	0	NAA11	80465472	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.048000	0.14078	-0.421000	0.07416	-0.264000	0.10439	AAG	NAA11	-	NULL	ENSG00000156269		0.557	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	-	0	56	0	T			80246448	-1	tier1	-	no_errors	ENST00000286794	ensembl	human	known	74_37	missense	63.33	22	38	SNP	0.000	G	G	80246448	T	G	80246448	3	3	67	1	0	0	0	0	1	0	0	0	10155	1609	56	4	109	4	NAA11	4	80246448	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	8899238	80246448	110907828	86	18261											
FAT4	79633	genome.wustl.edu	37	chr4	126242658	126242658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgcagccattctggacCgggagcaaggagcatgtctt	10	7	13	11	2	2	1	0	0	2	1	2	4	2	4	3	3	3	3	3	3	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:126242658C>T	ENST00000394329.3	+	1	5105	c.5092C>T	c.(5092-5094)Cgg>Tgg	p.R1698W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1698	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTCTGGACCGGGAGCAAGG	0.418																																																	0													96	92	93					4																	126242658		1896	4121	6017	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5092C>T	4.37:g.126242658C>T	ENSP00000377862:p.Arg1698Trp		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R1698W	ENST00000394329.3	37	c.5092	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488639	0.64074	.	.	ENSG00000196159	ENST00000394329	T	0.50277	0.75	5.27	2.33	0.28932	Cadherin (3);Cadherin-like (1);	0.000000	0.31438	U	0.007644	T	0.72518	0.3470	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.63381	0.914	T	0.76219	-0.3039	10	0.66056	D	0.02	.	9.148	0.36944	0.2277:0.5534:0.219:0.0	.	1698	Q6V0I7	FAT4_HUMAN	W	1698	ENSP00000377862:R1698W	ENSP00000377862:R1698W	R	+	1	2	FAT4	126462108	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.286000	0.33273	0.564000	0.29238	0.655000	0.94253	CGG	FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.418	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	59	0	C	NM_024582		126242658	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T	T	126242658	C	T	126242658	3	4	67	1	0	0	0	0	1	0	0	0	5714	643	23	1	5094	1	FAT4	4	126242658	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	45996210	126242658	64911618	87	18262											
FAT4	79633	genome.wustl.edu	37	chr4	126370822	126370822	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatttagattgccctgaacTtactgagattggctccaaag	11	14	8	8	0	0	3	0	2	0	2	1	4	1	3	2	1	3	1	2	1	5	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:126370822T>G	ENST00000394329.3	+	9	8664	c.8651T>G	c.(8650-8652)cTt>cGt	p.L2884R	FAT4_ENST00000335110.5_Missense_Mutation_p.L1182R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2884	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCCCTGAACTTACTGAGATT	0.373																																																	0													91	92	92					4																	126370822		2203	4299	6502	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8651T>G	4.37:g.126370822T>G	ENSP00000377862:p.Leu2884Arg		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L2884R	ENST00000394329.3	37	c.8651	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	T	15.97	2.988368	0.53934	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.58652	0.32;0.32	5.51	5.51	0.81932	Cadherin (3);Cadherin-like (1);	0.000000	0.31415	U	0.007695	T	0.63861	0.2547	L	0.43152	1.355	0.54753	D	0.999986	D;D;D	0.89917	0.96;0.998;1.0	P;D;D	0.91635	0.663;0.971;0.999	T	0.59080	-0.7521	10	0.12103	T	0.63	.	10.3035	0.43667	0.0:0.0736:0.0:0.9264	.	1182;2884;2884	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	2884;1182	ENSP00000377862:L2884R;ENSP00000335169:L1182R	ENSP00000335169:L1182R	L	+	2	0	FAT4	126590272	1.000000	0.71417	0.967000	0.41034	0.956000	0.61745	4.980000	0.63812	2.217000	0.71921	0.533000	0.62120	CTT	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.373	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	24	0	T	NM_024582		126370822	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.989	G	G	126370822	T	G	126370822	3	3	67	1	0	0	0	0	1	0	0	0	5714	1609	56	4	8685	4	FAT4	4	126370822	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	128164	126370822	64783454	88	18263											
DCLK2	166614	genome.wustl.edu	37	chr4	151168808	151168808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttggctgggaagctggAgtttccggccccctactggg	5	10	15	11	1	1	0	0	0	1	0	2	3	2	2	3	5	2	3	3	5	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:151168808A>G	ENST00000296550.7	+	13	2586	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	DCLK2_ENST00000302176.8_Missense_Mutation_p.E628G|DCLK2_ENST00000506325.1_Missense_Mutation_p.E610G	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGGAAGCTGGAGTTTCCGGCC	0.507																																					GBM(195;186 2215 13375 16801 37459)												0													76	79	78					4																	151168808		2203	4300	6503	SO:0001583	missense	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1832A>G	4.37:g.151168808A>G	ENSP00000296550:p.Glu611Gly		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.E628G	ENST00000296550.7	37	c.1883	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	A	26.3	4.720205	0.89205	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.67523	-0.27;-0.27;-0.27	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.096018	0.64402	D	0.000001	T	0.58991	0.2161	N	0.16201	0.385	0.58432	D	0.999998	B;P;B	0.49559	0.065;0.925;0.04	B;P;B	0.47162	0.044;0.54;0.081	T	0.65389	-0.6180	10	0.62326	D	0.03	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	628;610;611	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	G	611;610;628	ENSP00000296550:E611G;ENSP00000427235:E610G;ENSP00000303887:E628G	ENSP00000296550:E611G	E	+	2	0	DCLK2	151388258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	GAG	DCLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000170390		0.507	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	-	0	80	0	A	NM_001040260		151168808	1	tier1	-	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	G	G	151168808	A	G	151168808	3	3	67	1	0	0	0	0	1	0	0	0	4301	304	11	4	1882	4	DCLK2	4	151168808	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	24797986	151168808	39985468	89	18264											
PET112L	5188	genome.wustl.edu	37	chr4	152601042	152601042	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgcagagggtgtgacagGactggtggcccccaaaagag	11	5	17	8	0	0	3	0	1	0	2	0	5	0	4	2	4	1	1	2	4	2	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr4:152601042G>T	ENST00000515812.1	-	10	1226	c.1210C>A	c.(1210-1212)Cct>Act	p.P404T	RP11-164P12.3_ENST00000514269.1_RNA|PET112_ENST00000507592.1_5'UTR|PET112_ENST00000263985.6_Splice_Site_p.P445T																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GGTGTGACAGGACTGGTGGCC	0.502																																																	0													154	156	155					4																	152601042		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000515812.1:c.1209-1C>A	4.37:g.152601042G>T				Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.P445T	ENST00000515812.1	37	c.1333		4	.	.	.	.	.	.	.	.	.	.	G	19.48	3.836303	0.71373	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.46451	0.87;0.87	5.69	5.69	0.88448	Asn/Gln amidotransferase (2);Aspartyl/glutamyl-tRNA amidotransferase subunit B-related (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72852	-0.4167	10	0.87932	D	0	-12.1049	17.5788	0.87958	0.0:0.0:1.0:0.0	.	445	O75879	GATB_HUMAN	T	445;404	ENSP00000263985:P445T;ENSP00000426859:P404T	ENSP00000263985:P445T	P	-	1	0	PET112	152820492	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	5.951000	0.70273	2.677000	0.91161	0.650000	0.86243	CCT	PET112	-	pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	ENSG00000059691		0.502	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	-	0	43	0	G		Missense_Mutation	152601042	-1	tier1	-	no_errors	ENST00000263985	ensembl	human	known	74_37	missense	45.83	26	22	SNP	1.000	T	T	152601042	G	T	152601042	5	4	67	1	0	0	0	0	0	0	1	0	11773	1188	41	3	352	3	PET112L	4	152601042	Splice_Site	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	1432234	152601042	38553234	90	18265											
SLC6A19	340024	genome.wustl.edu	37	chr5	1201910	1201911	+	In_Frame_Ins	INS	-	-	GAA																															gctcacctgcctgggcttctINSgcgtgggcctcggcaacgtg																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:1201910_1201911insGAA	ENST00000304460.10	+	1	201_202	c.145_146insGAA	c.(145-147)tgc>tGAAgc	p.49_49C>*S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	49					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGGGCTTCTGCGTGGGCCTC	0.698																																																	0																																										SO:0001652	inframe_insertion	0			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	Exception_encountered	5.37:g.1201910_1201911insGAA	ENSP00000305302:p.Cys49delins*Ser		A8K446	In_Frame_Ins	INS	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.CVGL49in_frame_ins*	ENST00000304460.10	37	c.145_146	CCDS34130.1	5																																																																																			SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000174358		0.698	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1		0	100	0	-	XM_291120		1201911	1	tier1		no_errors	ENST00000304460	ensembl	human	known	74_37	in_frame_ins	38.35	82	51	INS	1.000:1.000	GAA	GAA	1201911	-	GAA	1201910	7	5	67	1	0	1	1	0	0	0	0	0	14727	1580	55	0	147	0	SLC6A19	5	1201910	In_Frame_Ins	INS	-	TCGA-L5-A4OT-01A-11D-A28B-09		1201910	179713350	91	18266											
ADCY2	108	genome.wustl.edu	37	chr5	7727305	7727305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacggcactgccagcgttcaAgtattatgtgacttgtgcct	8	12	10	11	2	1	1	1	1	0	0	1	1	1	1	2	1	3	3	2	1	3	4	rs529971476		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:7727305A>C	ENST00000338316.4	+	14	1891	c.1802A>C	c.(1801-1803)aAg>aCg	p.K601T	ADCY2_ENST00000537121.1_Missense_Mutation_p.K421T|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	601					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCAGCGTTCAAGTATTATGTG	0.502													A|||	1	0.000199681	0	0	5008	,	,		21743	0		0	False		,,,				2504	0.001																0													199	175	183					5																	7727305		2203	4300	6503	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1802A>C	5.37:g.7727305A>C	ENSP00000342952:p.Lys601Thr		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K601T	ENST00000338316.4	37	c.1802	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349753	0.82132	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82893	-1.2;-1.66	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.89332	0.6685	M	0.75264	2.295	0.50813	D	0.999899	D;P	0.64830	0.994;0.628	D;P	0.64687	0.928;0.469	D	0.90086	0.4174	10	0.59425	D	0.04	.	12.642	0.56714	1.0:0.0:0.0:0.0	.	421;601	B7Z2C1;Q08462	.;ADCY2_HUMAN	T	601;434;421	ENSP00000342952:K601T;ENSP00000444803:K421T	ENSP00000342952:K601T	K	+	2	0	ADCY2	7780305	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.337000	0.90036	1.971000	0.57363	0.528000	0.53228	AAG	ADCY2	-	NULL	ENSG00000078295		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0	87	0	A	NM_020546		7727305	1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	40.17	70	47	SNP	1.000	C	C	7727305	A	C	7727305	3	2	67	1	0	0	0	0	1	0	0	0	294	72	3	4	1856	4	ADCY2	5	7727305	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	6525395	7727305	173187955	92	18267											
DNAH5	1767	genome.wustl.edu	37	chr5	13729594	13729594	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttgctaagttccaccAaattcagccatgttatgtcc	10	14	7	10	0	1	1	1	1	0	0	3	1	3	1	4	0	2	4	4	0	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:13729594A>T	ENST00000265104.4	-	69	11941	c.11837T>A	c.(11836-11838)tTg>tAg	p.L3946*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3946					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGTTCCACCAAATTCAGCCA	0.378									Kartagener syndrome																																								0													162	136	144					5																	13729594		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11837T>A	5.37:g.13729594A>T	ENSP00000265104:p.Leu3946*		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3946*	ENST00000265104.4	37	c.11837	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	54	22.645768	0.99949	.	.	ENSG00000039139	ENST00000265104	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.35	0.83199	1.0:0.0:0.0:0.0	.	.	.	.	X	3946	.	ENSP00000265104:L3946X	L	-	2	0	DNAH5	13782594	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.215000	0.95146	2.270000	0.75569	0.528000	0.53228	TTG	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	68	0	A	NM_001369		13729594	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	nonsense	13.33	78	12	SNP	1.000	T	T	13729594	A	T	13729594	4	4	67	1	0	0	0	0	0	1	0	0	4618	131	5	5	2081	5	DNAH5	5	13729594	Nonsense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	6002289	13729594	167185666	93	18268											
DNAH5	1767	genome.wustl.edu	37	chr5	13752275	13752275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagttttaatgaagtttcTttccaaaacattatctagtg	12	16	5	8	0	2	1	0	1	2	0	3	1	3	1	2	0	1	2	2	0	6	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:13752275T>C	ENST00000265104.4	-	64	11100	c.10996A>G	c.(10996-10998)Aga>Gga	p.R3666G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3666	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGAAGTTTCTTTCCAAAACA	0.413									Kartagener syndrome																																								0													133	122	126					5																	13752275		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10996A>G	5.37:g.13752275T>C	ENSP00000265104:p.Arg3666Gly		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R3666G	ENST00000265104.4	37	c.10996	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	19.92	3.915624	0.73098	.	.	ENSG00000039139	ENST00000265104	T	0.33216	1.42	5.71	5.71	0.89125	.	0.096845	0.85682	D	0.000000	T	0.46171	0.1379	M	0.76433	2.335	0.47276	D	0.999372	B	0.26041	0.14	B	0.39339	0.297	T	0.48269	-0.9050	10	0.87932	D	0	.	16.2826	0.82703	0.0:0.0:0.0:1.0	.	3666	Q8TE73	DYH5_HUMAN	G	3666	ENSP00000265104:R3666G	ENSP00000265104:R3666G	R	-	1	2	DNAH5	13805275	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.514000	0.81750	2.307000	0.77673	0.528000	0.53228	AGA	DNAH5	-	NULL	ENSG00000039139		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	40	0	T	NM_001369		13752275	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	42.86	28	21	SNP	1.000	C	C	13752275	T	C	13752275	3	2	67	1	0	0	0	0	1	0	0	0	4618	1617	56	4	2942	4	DNAH5	5	13752275	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	22681	13752275	167162985	94	18269											
DNAH5	1767	genome.wustl.edu	37	chr5	13769697	13769697	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaacagactctgaagcttcTttgagcttttccaatccagt	10	13	7	11	0	2	3	0	2	2	1	4	3	4	3	2	0	3	3	2	0	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:13769697T>G	ENST00000265104.4	-	57	9737	c.9633A>C	c.(9631-9633)aaA>aaC	p.K3211N	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3211	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGAAGCTTCTTTGAGCTTTT	0.433									Kartagener syndrome																																								0													178	166	170					5																	13769697		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9633A>C	5.37:g.13769697T>G	ENSP00000265104:p.Lys3211Asn		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K3211N	ENST00000265104.4	37	c.9633	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852388	0.32699	.	.	ENSG00000039139	ENST00000265104	T	0.74947	-0.89	5.77	5.77	0.91146	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.65123	0.2661	L	0.31065	0.9	0.80722	D	1	B	0.22346	0.068	B	0.28553	0.091	T	0.59984	-0.7351	10	0.15066	T	0.55	.	16.3818	0.83467	0.0:0.0:0.0:1.0	.	3211	Q8TE73	DYH5_HUMAN	N	3211	ENSP00000265104:K3211N	ENSP00000265104:K3211N	K	-	3	2	DNAH5	13822697	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.132000	0.31418	2.330000	0.79161	0.528000	0.53228	AAA	DNAH5	-	NULL	ENSG00000039139		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	68	0	T	NM_001369		13769697	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	12.50	77	11	SNP	1.000	G	G	13769697	T	G	13769697	3	3	67	1	0	0	0	0	1	0	0	0	4618	1606	56	4	4333	4	DNAH5	5	13769697	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	17422	13769697	167145563	95	18270											
PLCXD3	345557	genome.wustl.edu	37	chr5	41382172	41382172	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtagaagaccagcacttGatagtccttctcccacaggt	11	10	9	11	0	1	3	0	1	1	2	3	3	2	3	3	2	1	2	3	2	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:41382172G>C	ENST00000377801.3	-	2	642	c.568C>G	c.(568-570)Caa>Gaa	p.Q190E	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q190E			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	190	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACCAGCACTTGATAGTCCTTC	0.498																																																	0													81	77	79					5																	41382172		2203	4300	6503	SO:0001583	missense	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.568C>G	5.37:g.41382172G>C	ENSP00000367032:p.Gln190Glu		A6NL04	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.Q190E	ENST00000377801.3	37	c.568	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546108	0.86022	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	5.81	5.81	0.92471	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	D	0.84790	0.5550	M	0.90082	3.085	0.80722	D	1	P	0.44776	0.843	P	0.58928	0.848	D	0.85468	0.1171	9	0.52906	T	0.07	-13.5782	20.0784	0.97758	0.0:0.0:1.0:0.0	.	190	Q63HM9	PLCX3_HUMAN	E	190	.	ENSP00000333751:Q190E	Q	-	1	0	PLCXD3	41417929	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.473000	0.97714	2.736000	0.93811	0.655000	0.94253	CAA	PLCXD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom	ENSG00000182836		0.498	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	-	0	41	0	G	XM_293875		41382172	-1	tier1	-	no_errors	ENST00000328457	ensembl	human	known	74_37	missense	10.04	205	23	SNP	1.000	C	C	41382172	G	C	41382172	3	2	67	1	0	0	0	0	1	0	0	0	12082	1299	45	5	405	5	PLCXD3	5	41382172	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	27612475	41382172	139533088	96	18271											
GHR	2690	genome.wustl.edu	37	chr5	42700005	42700005	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatgcagatatccaagtGagatgggaagcaccacgcaa	15	7	10	9	1	1	2	1	1	0	2	2	4	2	3	2	1	2	3	2	1	4	2	rs45477803	byFrequency	TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:42700005G>T	ENST00000230882.4	+	6	709	c.519G>T	c.(517-519)gtG>gtT	p.V173V	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Silent_p.V151V	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	173	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.		V -> G (in LARS; almost completely abolishes GH-binding at cell surface: 26% binding to membrane fractions). {ECO:0000269|PubMed:9851797}.		2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATATCCAAGTGAGATGGGAAG	0.418																																																	0													138	118	125					5																	42700005		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"Fibronectin type III domain containing"	4263	protein-coding gene	gene with protein product	"growth hormone binding protein"	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.519G>T	5.37:g.42700005G>T			Q9HCX2	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.V173	ENST00000230882.4	37	c.519	CCDS3940.1	5																																																																																			GHR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000112964		0.418	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	-	0	29	0	G	NM_000163		42700005	1	tier1	-	no_errors	ENST00000230882	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.960	T	T	42700005	G	T	42700005	2	4	67	1	0	0	0	0	0	0	0	1	6397	1277	45	3		3	GHR	5	42700005	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	1317833	42700005	138215255	97	18272											
NNT	23530	genome.wustl.edu	37	chr5	43653170	43653170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggtgccttggctggcctCtccacccagggaacagcacg	6	7	13	15	2	1	0	0	0	1	0	3	1	1	1	4	4	3	2	4	4	1	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:43653170C>T	ENST00000264663.5	+	14	2135	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	NNT_ENST00000512996.2_Silent_p.L507L|NNT_ENST00000344920.4_Silent_p.L638L	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	638					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGGCTGGCCTCTCCACCCAGG	0.522																																																	0													93	85	88					5																	43653170		2203	4300	6503	SO:0001819	synonymous_variant	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1914C>T	5.37:g.43653170C>T			Q16796|Q2TB60|Q8N3V4	Silent	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.L638	ENST00000264663.5	37	c.1914	CCDS3949.1	5																																																																																			NNT	-	pfam_NADH_DH_b	ENSG00000112992		0.522	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	-	0	69	0	C	NM_182977		43653170	1	tier1	-	no_errors	ENST00000264663	ensembl	human	known	74_37	silent	12.46	288	41	SNP	0.972	T	T	43653170	C	T	43653170	2	4	67	1	0	0	0	0	0	0	0	1	10549	900	32	3		3	NNT	5	43653170	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	953165	43653170	137262090	98	18273											
ARL15	54622	genome.wustl.edu	37	chr5	53409096	53409096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattaaaaagggtaaagtgCataactgtggatgctgaaga	17	10	11	3	0	0	2	0	1	0	1	0	3	0	3	0	2	3	3	0	2	8	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:53409096C>T	ENST00000504924.1	-	4	491	c.398G>A	c.(397-399)tGc>tAc	p.C133Y	ARL15_ENST00000507646.2_Missense_Mutation_p.C133Y|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	133					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GGGTAAAGTGCATAACTGTGG	0.423																																																	0													89	91	90					5																	53409096		1947	4152	6099	SO:0001583	missense	0			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25945	protein-coding gene	gene with protein product			"ADP-ribosylation factor related protein 2"	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.398G>A	5.37:g.53409096C>T	ENSP00000433427:p.Cys133Tyr		Q6IAD0	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.C133Y	ENST00000504924.1	37	c.398	CCDS54850.1	5	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904307	0.92035	.	.	ENSG00000185305	ENST00000504924;ENST00000507646	T;T	0.62639	0.01;0.01	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.71888	0.3393	L	0.34521	1.04	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.73135	-0.4078	10	0.72032	D	0.01	-13.9925	20.2723	0.98479	0.0:1.0:0.0:0.0	.	133	Q9NXU5	ARL15_HUMAN	Y	133	ENSP00000433427:C133Y;ENSP00000432680:C133Y	ENSP00000433427:C133Y	C	-	2	0	ARL15	53444853	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.793000	0.96121	0.563000	0.77884	TGC	ARL15	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1	ENSG00000185305		0.423	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL15	HGNC	protein_coding	OTTHUMT00000368432.2	-	0	22	0	C	NM_019087		53409096	-1	tier1	-	no_errors	ENST00000504924	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	T	T	53409096	C	T	53409096	3	4	67	1	0	0	0	0	1	0	0	0	931	710	25	3	224	3	ARL15	5	53409096	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	9755926	53409096	127506164	99	18274											
IL6ST	3572	genome.wustl.edu	37	chr5	55265471	55265471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatttaatgaagctatatCtgtaaaggtgacactggatg	15	13	9	4	0	1	2	0	2	1	0	1	3	1	3	0	2	1	2	0	2	8	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:55265471C>T	ENST00000381298.2	-	4	589	c.277G>A	c.(277-279)Gat>Aat	p.D93N	IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.D93N|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.D93N|IL6ST_ENST00000381294.3_Missense_Mutation_p.D93N|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_Missense_Mutation_p.D93N|IL6ST_ENST00000381287.4_Missense_Mutation_p.D93N|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.D93N	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	93	Ig-like C2-type.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAGCTATATCTGTAAAGGTG	0.333			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													109	99	102					5																	55265471		2203	4299	6502	SO:0001583	missense	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.277G>A	5.37:g.55265471C>T	ENSP00000370698:p.Asp93Asn		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D93N	ENST00000381298.2	37	c.277	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488403	0.26686	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.86	-9.62	0.00547	Fibronectin, type III (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	1.064340	0.07146	N	0.848156	T	0.46328	0.1387	N	0.04746	-0.17	0.31424	N	0.673961	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.12156	0.005;0.004;0.007	T	0.46359	-0.9197	10	0.08381	T	0.77	.	14.3793	0.66900	0.0:0.6608:0.102:0.2372	.	93;93;93	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	N	93	ENSP00000370698:D93N;ENSP00000338799:D93N;ENSP00000370694:D93N;ENSP00000370687:D93N;ENSP00000444456:D93N;ENSP00000435399:D93N	ENSP00000338799:D93N	D	-	1	0	IL6ST	55301228	0.003000	0.15002	0.053000	0.19242	0.931000	0.56810	-0.640000	0.05440	-1.407000	0.02043	-0.225000	0.12378	GAT	IL6ST	-	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3	ENSG00000134352		0.333	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	-	0	96	0	C	NM_002184		55265471	-1	tier1	-	no_errors	ENST00000336909	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.040	T	T	55265471	C	T	55265471	3	4	67	1	0	0	0	0	1	0	0	0	7730	913	32	3	2535	3	IL6ST	5	55265471	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	1856375	55265471	125649789	100	18275											
PCDHA3	56145	genome.wustl.edu	37	chr5	140182594	140182594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcagactcaggctacaaCgcgtggctttcgtatgagct	9	10	12	10	3	1	2	1	1	0	1	2	3	1	2	0	2	4	5	0	2	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:140182594C>T	ENST00000522353.2	+	1	1812	c.1812C>T	c.(1810-1812)aaC>aaT	p.N604N	PCDHA3_ENST00000532566.2_Silent_p.N604N|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	604	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCTACAACGCGTGGCTTT	0.677																																																	0													101	98	99					5																	140182594		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1812C>T	5.37:g.140182594C>T			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N604	ENST00000522353.2	37	c.1812	CCDS54915.1	5																																																																																			PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0	193	0	C	NM_018906		140182594	1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	silent	35.54	107	59	SNP	1.000	T	T	140182594	C	T	140182594	2	4	67	1	0	0	0	0	0	0	0	1	11564	535	19	1		1	PCDHA3	5	140182594	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	84917123	140182594	40732666	101	18276											
PCDHA13	56136	genome.wustl.edu	37	chr5	140263526	140263526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgttcgtgctggacgAgaacgacaacgctccggcgc	8	6	15	12	6	0	1	0	0	0	1	2	4	1	2	1	3	3	4	1	3	2	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:140263526A>T	ENST00000289272.2	+	1	1673	c.1673A>T	c.(1672-1674)gAg>gTg	p.E558V	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E558V|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGACGAGAACGACAAC	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)												0													63	70	68					5																	140263526		2203	4297	6500	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1673A>T	5.37:g.140263526A>T	ENSP00000289272:p.Glu558Val		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E558V	ENST00000289272.2	37	c.1673	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	A	6.683	0.494626	0.12702	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.58060	0.36;0.36	4.08	4.08	0.47627	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.38348	0.1037	N	0.04162	-0.26	0.24200	N	0.995519	P;P;P	0.43788	0.817;0.627;0.73	B;B;P	0.49502	0.186;0.158;0.613	T	0.14364	-1.0475	9	0.59425	D	0.04	.	7.763	0.28963	0.6849:0.0:0.0:0.3151	.	558;558;558	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	558	ENSP00000386821:E558V;ENSP00000289272:E558V	ENSP00000289272:E558V	E	+	2	0	PCDHA13	140243710	0.811000	0.29063	0.997000	0.53966	0.114000	0.19823	1.688000	0.37690	1.686000	0.51046	0.459000	0.35465	GAG	PCDHA13	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0	140	0	A	NM_018904		140263526	1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	36.49	47	27	SNP	0.999	T	T	140263526	A	T	140263526	3	4	67	1	0	0	0	0	1	0	0	0	11562	304	11	5	1675	5	PCDHA13	5	140263526	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	80932	140263526	40651734	102	18277											
PCDHB12	56124	genome.wustl.edu	37	chr5	140589472	140589472	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggactttttggaaaatcTacagtcagaattcaggtgat	13	12	11	5	0	3	2	2	1	1	1	3	5	3	5	0	4	1	0	0	4	4	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:140589472T>C	ENST00000239450.2	+	1	1182	c.993T>C	c.(991-993)tcT>tcC	p.S331S	PCDHB12_ENST00000541609.1_5'UTR	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	331	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAAAATCTACAGTCAGAA	0.418																																																	0													77	78	78					5																	140589472		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.993T>C	5.37:g.140589472T>C			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S331	ENST00000239450.2	37	c.993	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.418	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0	36	0	T	NM_018932		140589472	1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	silent	20.00	24	6	SNP	0.001	C	C	140589472	T	C	140589472	2	2	67	1	0	0	0	0	0	0	0	1	11576	1509	53	4		4	PCDHB12	5	140589472	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	325946	140589472	40325788	103	18278											
SGCD	6444	genome.wustl.edu	37	chr5	155771519	155771519	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctcaggagcagtacacTcaccaccggagcaccatgcc	11	5	9	16	1	2	0	2	0	0	0	2	2	2	2	5	2	5	3	5	2	1	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:155771519T>A	ENST00000435422.3	+	2	508	c.21T>A	c.(19-21)acT>acA	p.T7T	SGCD_ENST00000517913.1_Silent_p.T8T|SGCD_ENST00000337851.4_Silent_p.T8T|SGCD_ENST00000447401.1_Silent_p.T8T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	7					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGCAGTACACTCACCACCGGA	0.473																																																	0													109	109	109					5																	155771519		1952	4160	6112	SO:0001819	synonymous_variant	0			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.21T>A	5.37:g.155771519T>A			A8K9S9|Q53XA5|Q99644	Silent	SNP	pfam_Sarcoglycan	p.T8	ENST00000435422.3	37	c.24	CCDS47327.1	5																																																																																			SGCD	-	NULL	ENSG00000170624		0.473	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3	-	0	98	0	T			155771519	1	tier1	-	no_errors	ENST00000337851	ensembl	human	known	74_37	silent	12.35	71	10	SNP	0.803	A	A	155771519	T	A	155771519	2	1	67	1	0	0	0	0	0	0	0	1	14246	1538	54	5		5	SGCD	5	155771519	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	15182047	155771519	25143741	104	18279											
SGCD	6444	genome.wustl.edu	37	chr5	156016259	156016259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtaatgccctgtacttcAagtctgccagaaatgttaca	12	11	9	9	0	2	1	1	0	1	1	2	1	2	1	2	1	4	3	2	1	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:156016259A>C	ENST00000435422.3	+	4	797	c.310A>C	c.(310-312)Aag>Cag	p.K104Q	SGCD_ENST00000517913.1_Missense_Mutation_p.K105Q|SGCD_ENST00000337851.4_Missense_Mutation_p.K105Q|SGCD_ENST00000447401.1_Missense_Mutation_p.K105Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	104					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGTACTTCAAGTCTGCCAG	0.378																																																	0													72	63	66					5																	156016259		1855	4093	5948	SO:0001583	missense	0			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.310A>C	5.37:g.156016259A>C	ENSP00000403003:p.Lys104Gln		A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	pfam_Sarcoglycan	p.K105Q	ENST00000435422.3	37	c.313	CCDS47327.1	5	.	.	.	.	.	.	.	.	.	.	A	3.562	-0.089518	0.07053	.	.	ENSG00000170624	ENST00000517913;ENST00000435422;ENST00000337851;ENST00000447401	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	4.67	4.67	0.58626	.	0.115913	0.64402	D	0.000017	T	0.67970	0.2950	N	0.00068	-2.285	0.32008	N	0.602453	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.69518	-0.5124	10	0.05959	T	0.93	-0.9131	10.132	0.42685	0.675:0.325:0.0:0.0	.	104;105;105	Q92629;Q92629-2;Q92629-3	SGCD_HUMAN;.;.	Q	105;104;105;105	ENSP00000429378:K105Q;ENSP00000403003:K104Q;ENSP00000338343:K105Q;ENSP00000408324:K105Q	ENSP00000338343:K105Q	K	+	1	0	SGCD	155948837	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.556000	0.60775	1.749000	0.51849	0.459000	0.35465	AAG	SGCD	-	pfam_Sarcoglycan	ENSG00000170624		0.378	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3	-	0	62	0	A			156016259	1	tier1	-	no_errors	ENST00000337851	ensembl	human	known	74_37	missense	18.31	58	13	SNP	1.000	C	C	156016259	A	C	156016259	3	2	67	1	0	0	0	0	1	0	0	0	14246	131	5	4	327	4	SGCD	5	156016259	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	244740	156016259	24899001	105	18280											
TIMD4	91937	genome.wustl.edu	37	chr5	156390172	156390172	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtaaagccaccaaaacTcaatcatcagccagagaatg	17	6	7	11	0	4	1	4	0	0	1	4	2	4	1	3	1	3	1	3	1	6	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:156390172T>G	ENST00000274532.2	-	1	94	c.38A>C	c.(37-39)gAg>gCg	p.E13A	TIMD4_ENST00000407087.3_Missense_Mutation_p.E13A	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	13						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCACCAAAACTCAATCATCAG	0.448																																																	0													127	121	124					5																	156390172		2203	4300	6503	SO:0001583	missense	0			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.38A>C	5.37:g.156390172T>G	ENSP00000274532:p.Glu13Ala		B5MCL9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E13A	ENST00000274532.2	37	c.38	CCDS4332.1	5	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253512	0.22965	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.19250	2.16;2.17	5.18	1.37	0.22104	.	0.774326	0.11636	N	0.544320	T	0.12646	0.0307	L	0.34521	1.04	0.09310	N	1	P;P	0.47762	0.9;0.9	B;B	0.41135	0.348;0.348	T	0.14337	-1.0476	10	0.22109	T	0.4	-5.6473	2.9046	0.05716	0.1825:0.2089:0.0:0.6086	.	13;13	B5MCL9;Q96H15	.;TIMD4_HUMAN	A	13	ENSP00000274532:E13A;ENSP00000385973:E13A	ENSP00000274532:E13A	E	-	2	0	TIMD4	156322750	0.078000	0.21339	0.001000	0.08648	0.009000	0.06853	1.188000	0.32102	0.081000	0.16988	0.533000	0.62120	GAG	TIMD4	-	NULL	ENSG00000145850		0.448	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMD4	HGNC	protein_coding	OTTHUMT00000252568.1	-	0	51	0	T	NM_138379		156390172	-1	tier1	-	no_errors	ENST00000274532	ensembl	human	known	74_37	missense	28.07	41	16	SNP	0.002	G	G	156390172	T	G	156390172	3	3	67	1	0	0	0	0	1	0	0	0	15950	1551	54	4	1134	4	TIMD4	5	156390172	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	373913	156390172	24525088	106	18281											
SLIT3	6586	genome.wustl.edu	37	chr5	168098212	168098212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacactgacctgtggccgAggcaggggtcccgggcctcc	5	5	17	14	2	0	1	0	1	0	0	2	3	2	2	5	6	0	1	5	6	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:168098212A>G	ENST00000519560.1	-	34	4537	c.4118T>C	c.(4117-4119)cTc>cCc	p.L1373P	SLIT3_ENST00000404867.3_Missense_Mutation_p.L1373P|SLIT3_ENST00000332966.8_Missense_Mutation_p.L1380P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1373	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGTGGCCGAGGCAGGGGTC	0.672																																					Ovarian(29;311 847 10864 17279 24903)												0													21	23	23					5																	168098212		2182	4278	6460	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4118T>C	5.37:g.168098212A>G	ENSP00000430333:p.Leu1373Pro		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1373P	ENST00000519560.1	37	c.4118	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407360	0.42715	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.92299	-3.01;-3.01;-3.01	5.43	5.43	0.79202	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.298857	0.32785	N	0.005659	D	0.93514	0.7930	L	0.58302	1.8	0.80722	D	1	P	0.48230	0.907	P	0.54026	0.74	D	0.93640	0.6964	10	0.52906	T	0.07	.	15.4948	0.75641	1.0:0.0:0.0:0.0	.	1373	O75094	SLIT3_HUMAN	P	1373;1380;1373	ENSP00000430333:L1373P;ENSP00000332164:L1380P;ENSP00000384890:L1373P	ENSP00000332164:L1380P	L	-	2	0	SLIT3	168030790	0.999000	0.42202	0.910000	0.35882	0.211000	0.24417	3.882000	0.56160	2.059000	0.61396	0.379000	0.24179	CTC	SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.672	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	63	0	A	NM_003062		168098212	-1			no_errors	ENST00000519560	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.992	G	G	168098212	A	G	168098212	3	3	67	1	0	0	0	0	1	0	0	0	14786	304	11	4	465	4	SLIT3	5	168098212	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	11708040	168098212	12817048	107	18282											
NKX2-5	1482	genome.wustl.edu	37	chr5	172659657	172659657	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgcattcaagtccccgAcgccgaagttcacgaagttg	11	7	10	13	5	2	0	2	0	0	0	3	4	3	0	4	0	1	3	4	0	4	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:172659657A>T	ENST00000329198.4	-	2	1163	c.890T>A	c.(889-891)gTc>gAc	p.V297D		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	297					adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAAGTCCCCGACGCCGAAGTT	0.662																																					Esophageal Squamous(72;810 1219 2387 13420 44943)												0													31	33	32					5																	172659657		2203	4299	6502	SO:0001583	missense	0			AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.890T>A	5.37:g.172659657A>T	ENSP00000327758:p.Val297Asp		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.V297D	ENST00000329198.4	37	c.890	CCDS4387.1	5	.	.	.	.	.	.	.	.	.	.	A	19.70	3.875663	0.72180	.	.	ENSG00000183072	ENST00000329198	D	0.91180	-2.8	4.26	4.26	0.50523	.	0.382752	0.19150	N	0.121473	D	0.93458	0.7913	L	0.60455	1.87	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	D	0.92309	0.5856	10	0.36615	T	0.2	.	13.5655	0.61815	1.0:0.0:0.0:0.0	.	297	P52952	NKX25_HUMAN	D	297	ENSP00000327758:V297D	ENSP00000327758:V297D	V	-	2	0	NKX2-5	172592263	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	4.814000	0.62627	1.792000	0.52537	0.443000	0.29094	GTC	NKX2-5	-	NULL	ENSG00000183072		0.662	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	HGNC	protein_coding	OTTHUMT00000252942.2	-	0	41	0	A			172659657	-1	tier1	-	no_errors	ENST00000329198	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T	T	172659657	A	T	172659657	3	4	67	1	0	0	0	0	1	0	0	0	10492	275	10	5	88	5	NKX2-5	5	172659657	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	4561445	172659657	8255603	108	18283											
FGFR4	2264	genome.wustl.edu	37	chr5	176519424	176519424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcaaggtgtacagcgatgCccagccccacatccagtggc	9	6	12	14	1	0	0	0	0	0	0	1	1	1	0	4	2	5	2	4	2	2	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:176519424C>A	ENST00000292408.4	+	7	1075	c.830C>A	c.(829-831)gCc>gAc	p.A277D	FGFR4_ENST00000393648.2_Missense_Mutation_p.A277D|FGFR4_ENST00000393637.1_Missense_Mutation_p.A277D|FGFR4_ENST00000292410.3_Missense_Mutation_p.A277D|FGFR4_ENST00000502906.1_Missense_Mutation_p.A277D	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	277	Ig-like C2-type 3.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	TACAGCGATGCCCAGCCCCAC	0.637										TSP Lung(9;0.080)																																							0													40	40	40					5																	176519424		2202	4300	6502	SO:0001583	missense	0			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.830C>A	5.37:g.176519424C>A	ENSP00000292408:p.Ala277Asp		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A277D	ENST00000292408.4	37	c.830	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.190212	0.94923	.	.	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87	4.7	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96393	0.8823	L	0.41492	1.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;1.0	D	0.96739	0.9545	10	0.52906	T	0.07	.	17.6479	0.88153	0.0:1.0:0.0:0.0	.	277;277;277;277	B5A965;B4DVP5;P22455-2;P22455	.;.;.;FGFR4_HUMAN	D	277;277;277;277;277;389	ENSP00000292408:A277D;ENSP00000377259:A277D;ENSP00000424960:A277D;ENSP00000292410:A277D;ENSP00000377254:A277D	ENSP00000292408:A277D	A	+	2	0	FGFR4	176452030	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.776000	0.85560	2.322000	0.78497	0.561000	0.74099	GCC	FGFR4	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160867		0.637	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	-	0	66	0	C			176519424	1	tier1	-	no_errors	ENST00000292408	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	176519424	C	A	176519424	3	1	67	1	0	0	0	0	1	0	0	0	5890	739	26	3	852	3	FGFR4	5	176519424	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	3859767	176519424	4395836	109	18284											
COL23A1	91522	genome.wustl.edu	37	chr5	177689227	177689227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatactgaccatctcgccGtcttgtccgggctctccttt	4	14	9	14	3	3	1	0	1	3	0	6	2	4	2	4	2	1	1	4	2	1	3	rs140937912		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr5:177689227G>A	ENST00000390654.3	-	10	1023	c.666C>T	c.(664-666)gaC>gaT	p.D222D	COL23A1_ENST00000407622.1_Silent_p.D186D	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	222	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D222E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCATCTCGCCGTCTTGTCCGG	0.597																																																	1	Substitution - Missense(1)	skin(1)						G		1,3939		0,1,1969	54	58	57		666	-5.7	0	5	dbSNP_134	57	0,8310		0,0,4155	no	coding-synonymous	COL23A1	NM_173465.3		0,1,6124	AA,AG,GG		0.0,0.0254,0.0082		222/541	177689227	1,12249	1970	4155	6125	SO:0001819	synonymous_variant	0			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.666C>T	5.37:g.177689227G>A			Q8IVR4|Q9NT93	Silent	SNP	pfam_Collagen	p.D222	ENST00000390654.3	37	c.666	CCDS4436.1	5																																																																																			COL23A1	-	pfam_Collagen	ENSG00000050767		0.597	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	HGNC	protein_coding	OTTHUMT00000253475.1	-	0	11	0	G	NM_173465		177689227	-1	tier1	-	no_errors	ENST00000390654	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.001	A	A	177689227	G	A	177689227	2	1	67	1	0	0	0	0	0	0	0	1	3689	1136	40	1		1	COL23A1	5	177689227	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	1169803	177689227	3226033	110	18285											
IRF4	3662	genome.wustl.edu	37	chr6	405041	405041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagcgtttgctcaccacGgccgctccctgccaagattc	7	9	9	16	3	1	1	1	0	0	1	3	1	2	1	4	1	4	4	4	1	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:405041G>A	ENST00000380956.4	+	8	1249	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	375					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGCTCACCACGGCCGCTCCCT	0.517			T	IGH@	MM																																			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													75	74	74					6																	405041		2203	4300	6503	SO:0001583	missense	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1123G>A	6.37:g.405041G>A	ENSP00000370343:p.Gly375Ser		Q5VUI7|Q99660	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.G375S	ENST00000380956.4	37	c.1123	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456310	0.43634	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.93953	-3.32	5.72	1.82	0.25136	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.197869	0.53938	N	0.000055	T	0.79753	0.4500	L	0.54323	1.7	0.58432	D	0.999998	B;B	0.14012	0.007;0.009	B;B	0.20184	0.028;0.02	T	0.68934	-0.5278	10	0.08179	T	0.78	-21.8324	6.7445	0.23454	0.2541:0.1177:0.6283:0.0	.	374;375	Q15306-2;Q15306	.;IRF4_HUMAN	S	375;404	ENSP00000370343:G375S	ENSP00000370343:G375S	G	+	1	0	IRF4	350041	1.000000	0.71417	0.592000	0.28758	0.735000	0.41995	4.485000	0.60279	0.040000	0.15660	-0.302000	0.09304	GGC	IRF4	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000137265		0.517	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	-	0	48	0	G			405041	1	tier1	-	no_errors	ENST00000380956	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.968	A	A	405041	G	A	405041	3	1	67	1	0	0	0	0	1	0	0	0	7859	1116	39	1	1149	1	IRF4	6	405041	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09		405041	170710026	111	18286											
SERPINB6	5269	genome.wustl.edu	37	chr6	2948893	2948893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccatcatgtccagcctcGtccattctacgaacttctcg	8	12	5	16	3	3	0	1	0	2	0	8	1	6	0	4	0	3	0	4	0	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:2948893G>A	ENST00000380520.1	-	6	2764	c.770C>T	c.(769-771)aCg>aTg	p.T257M	SERPINB6_ENST00000380546.3_Missense_Mutation_p.T257M|SERPINB6_ENST00000335686.5_Missense_Mutation_p.T257M|SERPINB6_ENST00000380529.1_Missense_Mutation_p.T257M|SERPINB6_ENST00000380524.1_Missense_Mutation_p.T257M|SERPINB6_ENST00000380539.1_Missense_Mutation_p.T257M			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	257					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GTCCAGCCTCGTCCATTCTAC	0.542																																																	0													222	218	220					6																	2948893		2203	4300	6503	SO:0001583	missense	0			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"Serine (or cysteine) peptidase inhibitors"	8950	protein-coding gene	gene with protein product	"cytoplasmic antiproteinase"	173321	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6", "deafness, autosomal recessive 91"	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.770C>T	6.37:g.2948893G>A	ENSP00000369891:p.Thr257Met		B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.T257M	ENST00000380520.1	37	c.770	CCDS4479.1	6	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241150	0.58995	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	4.88	4.0	0.46444	Serpin domain (3);	0.185865	0.56097	D	0.000030	D	0.88145	0.6358	L	0.60904	1.88	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	D	0.89720	0.3918	10	0.72032	D	0.01	.	14.1101	0.65115	0.0:0.0:0.848:0.152	.	257	P35237	SPB6_HUMAN	M	257	ENSP00000369896:T257M;ENSP00000369891:T257M;ENSP00000338358:T257M;ENSP00000369901:T257M;ENSP00000369912:T257M;ENSP00000369919:T257M	ENSP00000338358:T257M	T	-	2	0	SERPINB6	2893892	1.000000	0.71417	0.826000	0.32828	0.282000	0.26991	3.240000	0.51368	1.378000	0.46305	0.456000	0.33151	ACG	SERPINB6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000124570		0.542	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB6	HGNC	protein_coding	OTTHUMT00000043422.1	-	0	61	0	G			2948893	-1	tier1	-	no_errors	ENST00000335686	ensembl	human	known	74_37	missense	32.26	42	20	SNP	0.998	A	A	2948893	G	A	2948893	3	1	67	1	0	0	0	0	1	0	0	0	14150	1145	40	1	364	1	SERPINB6	6	2948893	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	2543852	2948893	168166174	112	18287											
SCAND3	114821	genome.wustl.edu	37	chr6	28541180	28541180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttagacttggcaaccGgaagtgctactttatatgaa	11	14	10	6	1	0	2	0	1	0	1	0	3	0	3	1	2	3	3	1	2	7	7	rs142639079		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:28541180G>A	ENST00000452236.2	-	4	3103	c.2486C>T	c.(2485-2487)cCg>cTg	p.P829L	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.P829L(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						cttggcaaccggaagtgctac	0.403																																																	1	Substitution - Missense(1)	central_nervous_system(1)						G	LEU/PRO	0,4406		0,0,2203	135	129	131		2486	2.3	0.9	6	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCAND3	NM_052923.1	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	829/1326	28541180	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.2486C>T	6.37:g.28541180G>A	ENSP00000395259:p.Pro829Leu			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.P829L	ENST00000452236.2	37	c.2486	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744465	0.30865	0.0	1.16E-4	ENSG00000232040	ENST00000452236	T	0.01221	5.15	2.27	2.27	0.28462	.	0.849511	0.09671	N	0.771044	T	0.00784	0.0026	N	0.02751	-0.505	0.38694	D	0.952832	D	0.89917	1.0	D	0.81914	0.995	T	0.70494	-0.4856	10	0.17369	T	0.5	.	8.144	0.31100	0.0:0.0:1.0:0.0	.	829	Q6R2W3	SCND3_HUMAN	L	829	ENSP00000395259:P829L	ENSP00000395259:P829L	P	-	2	0	SCAND3	28649159	0.922000	0.31269	0.888000	0.34837	0.921000	0.55340	2.268000	0.43338	1.581000	0.49865	0.655000	0.94253	CCG	SCAND3	-	NULL	ENSG00000232040		0.403	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0	68	0	G			28541180	-1	tier1	rs142639079	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	33.85	43	22	SNP	0.905	A	A	28541180	G	A	28541180	3	1	67	1	0	0	0	0	1	0	0	0	13921	1116	39	1	1495	1	SCAND3	6	28541180	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	25592287	28541180	142573887	113	18288											
KCNQ5	56479	genome.wustl.edu	37	chr6	73830211	73830211	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgccacatgcagtgtgtTtggcgtagttacgcagctga	8	12	12	9	2	0	1	0	1	0	0	0	1	0	1	1	1	4	6	1	1	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:73830211T>C	ENST00000370398.1	+	8	1240	c.1131T>C	c.(1129-1131)gtT>gtC	p.V377V	KCNQ5_ENST00000342056.2_Silent_p.V377V|KCNQ5_ENST00000370392.1_Silent_p.V377V|KCNQ5_ENST00000403813.2_Silent_p.V377V|KCNQ5_ENST00000402622.2_Silent_p.V377V|KCNQ5_ENST00000355635.3_Silent_p.V377V|KCNQ5_ENST00000355194.4_Silent_p.V377V|KCNQ5_ENST00000414165.2_Silent_p.V377V	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	377					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	TGCAGTGTGTTTGGCGTAGTT	0.418																																					GBM(142;1375 1859 14391 23261 44706)												0													81	65	70					6																	73830211		2203	4300	6503	SO:0001819	synonymous_variant	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1131T>C	6.37:g.73830211T>C			A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.V377	ENST00000370398.1	37	c.1131	CCDS4976.1	6																																																																																			KCNQ5	-	NULL	ENSG00000185760		0.418	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	-	0	16	0	T	NM_019842		73830211	1	tier1	-	no_errors	ENST00000402622	ensembl	human	known	74_37	silent	20.00	20	5	SNP	1.000	C	C	73830211	T	C	73830211	2	2	67	1	0	0	0	0	0	0	0	1	8113	1828	64	4		4	KCNQ5	6	73830211	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	45289031	73830211	97284856	114	18289											
COL12A1	1303	genome.wustl.edu	37	chr6	75822931	75822931	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttttaccttgtgaaaacTtccataaaataatgtcttta	13	18	4	6	0	1	1	0	1	1	0	2	1	2	1	2	0	2	1	2	0	7	9			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:75822931T>G	ENST00000322507.8	-	51	8248	c.7939A>C	c.(7939-7941)Agt>Cgt	p.S2647R	COL12A1_ENST00000483888.2_Missense_Mutation_p.S2647R|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2647R|COL12A1_ENST00000345356.6_Missense_Mutation_p.S1483R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2647	Laminin G-like.|Nonhelical region (NC3).			SF -> RK (in Ref. 5; AAB23937). {ECO:0000305}.	cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTGTGAAAACTTCCATAAAAT	0.279																																																	0													72	65	67					6																	75822931		1794	4047	5841	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7939A>C	6.37:g.75822931T>G	ENSP00000325146:p.Ser2647Arg		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S2647R	ENST00000322507.8	37	c.7939	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	T	24.9	4.576700	0.86645	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.65975	2.015	0.54753	D	0.999987	D;P	0.56287	0.975;0.822	P;B	0.56700	0.804;0.227	T	0.21042	-1.0257	10	0.87932	D	0	.	16.0755	0.80965	0.0:0.0:0.0:1.0	.	1483;2647	Q99715-2;Q99715	.;COCA1_HUMAN	R	2647;285;2647;1483;2647;2647;201	ENSP00000325146:S2647R;ENSP00000399812:S285R;ENSP00000305147:S1483R;ENSP00000412864:S2647R;ENSP00000421216:S2647R;ENSP00000423423:S201R	ENSP00000325146:S2647R	S	-	1	0	COL12A1	75879651	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.697000	0.84279	2.182000	0.69389	0.528000	0.53228	AGT	COL12A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000111799		0.279	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	32	0	T	NM_004370		75822931	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	G	G	75822931	T	G	75822931	3	3	67	1	0	0	0	0	1	0	0	0	3676	1609	56	4	1316	4	COL12A1	6	75822931	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	1992720	75822931	95292136	115	18290											
RFX6	222546	genome.wustl.edu	37	chr6	117240321	117240321	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattagcagacataagaaaTtttgctaaaaattgggaaca	18	12	7	4	0	0	2	0	0	0	2	0	3	0	3	0	1	3	2	0	1	8	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:117240321T>G	ENST00000332958.2	+	11	1060	c.1044T>G	c.(1042-1044)aaT>aaG	p.N348K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	348					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACATAAGAAATTTTGCTAAAA	0.313																																																	0													88	89	89					6																	117240321		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1044T>G	6.37:g.117240321T>G	ENSP00000332208:p.Asn348Lys		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.N348K	ENST00000332958.2	37	c.1044	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357404	0.41801	.	.	ENSG00000185002	ENST00000332958	T	0.59083	0.29	6.08	3.74	0.42951	.	0.090781	0.85682	D	0.000000	T	0.19644	0.0472	L	0.32530	0.975	0.49915	D	0.999836	B	0.31318	0.319	B	0.24006	0.05	T	0.06320	-1.0833	10	0.13853	T	0.58	-30.0351	7.7046	0.28642	0.0:0.2417:0.0:0.7583	.	348	Q8HWS3	RFX6_HUMAN	K	348	ENSP00000332208:N348K	ENSP00000332208:N348K	N	+	3	2	RFX6	117347014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	0.554000	0.29061	0.482000	0.46254	AAT	RFX6	-	NULL	ENSG00000185002		0.313	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0	65	0	T	NM_173560		117240321	1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	G	G	117240321	T	G	117240321	3	3	67	1	0	0	0	0	1	0	0	0	13312	1490	52	4	1086	4	RFX6	6	117240321	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	41417390	117240321	53874746	116	18291											
TMEM200A	114801	genome.wustl.edu	37	chr6	130762765	130762765	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacactcaaagtccttggacTtagaccggggtccctccact	9	9	8	15	1	1	1	1	0	0	1	4	2	4	2	4	3	0	0	4	3	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:130762765T>G	ENST00000296978.3	+	3	2069	c.1198T>G	c.(1198-1200)Tta>Gta	p.L400V	TMEM200A_ENST00000392429.1_Missense_Mutation_p.L400V|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L400V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	400						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GTCCTTGGACTTAGACCGGGG	0.512																																																	0													88	82	84					6																	130762765		2203	4300	6503	SO:0001583	missense	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1198T>G	6.37:g.130762765T>G	ENSP00000296978:p.Leu400Val		Q96PX5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.L400V	ENST00000296978.3	37	c.1198	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	T	15.60	2.880458	0.51801	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	6.07	4.92	0.64577	.	0.000000	0.64402	D	0.000001	T	0.53433	0.1796	L	0.29908	0.895	0.58432	D	0.999992	D	0.76494	0.999	D	0.78314	0.991	T	0.60105	-0.7328	9	0.52906	T	0.07	-14.3384	12.1353	0.53968	0.0:0.0664:0.0:0.9336	.	400	Q86VY9	T200A_HUMAN	V	400	.	ENSP00000296978:L400V	L	+	1	2	TMEM200A	130804458	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.379000	0.52440	1.124000	0.41980	-0.250000	0.11733	TTA	TMEM200A	-	NULL	ENSG00000164484		0.512	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	-	0	21	0	T	NM_052913		130762765	1	tier1	-	no_errors	ENST00000296978	ensembl	human	known	74_37	missense	33.33	22	11	SNP	1.000	G	G	130762765	T	G	130762765	3	3	67	1	0	0	0	0	1	0	0	0	16170	1606	56	4	1200	4	TMEM200A	6	130762765	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	13522444	130762765	40352302	117	18292											
SYNE1	23345	genome.wustl.edu	37	chr6	152470788	152470788	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttattgtggttcagtgaaaTttcctgctggaaggcctagg	8	14	12	7	0	1	1	1	1	0	0	2	2	2	2	2	4	1	2	2	4	4	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:152470788T>G	ENST00000367255.5	-	136	25067	c.24466A>C	c.(24466-24468)Att>Ctt	p.I8156L	SYNE1_ENST00000356820.4_Missense_Mutation_p.I2680L|SYNE1_ENST00000448038.1_Missense_Mutation_p.I8085L|SYNE1_ENST00000354674.4_Missense_Mutation_p.I311L|SYNE1_ENST00000539504.1_Missense_Mutation_p.I311L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7768L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I8156L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I8085L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8156					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGTGAAATTTCCTGCTGG	0.388										HNSCC(10;0.0054)																																							0													94	94	94					6																	152470788		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24466A>C	6.37:g.152470788T>G	ENSP00000356224:p.Ile8156Leu		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I8156L	ENST00000367255.5	37	c.24466	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325741	0.81580	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000014	T	0.55242	0.1908	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.968	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.998;0.91	T	0.55425	-0.8143	10	0.42905	T	0.14	.	16.2453	0.82441	0.0:0.0:0.0:1.0	.	8156;8156;8085;8085;358	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	L	8156;311;802;8085;8156;8085;7768;2680;318;313;1078;311	ENSP00000356224:I8156L;ENSP00000441052:I311L;ENSP00000356226:I802L;ENSP00000396024:I8085L;ENSP00000265368:I8156L;ENSP00000390975:I8085L;ENSP00000341887:I7768L;ENSP00000349276:I2680L;ENSP00000356220:I1078L;ENSP00000346701:I311L	ENSP00000265368:I8156L	I	-	1	0	SYNE1	152512481	1.000000	0.71417	0.951000	0.38953	0.441000	0.31987	7.841000	0.86834	2.241000	0.73720	0.533000	0.62120	ATT	SYNE1	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	77	0	T	NM_182961		152470788	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	26.60	69	25	SNP	1.000	G	G	152470788	T	G	152470788	3	3	67	1	0	0	0	0	1	0	0	0	15492	1493	52	4	2044	4	SYNE1	6	152470788	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	21708023	152470788	18644279	118	18293											
SYNE1	23345	genome.wustl.edu	37	chr6	152683425	152683425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcgaacgccatcctgataActtgtccacttggagagagc	10	10	10	11	2	0	2	0	1	0	1	3	5	2	3	3	1	3	0	3	1	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:152683425A>C	ENST00000367255.5	-	64	10780	c.10179T>G	c.(10177-10179)agT>agG	p.S3393R	SYNE1_ENST00000448038.1_Missense_Mutation_p.S3400R|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.S3393R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S3400R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3393					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCCTGATAACTTGTCCACT	0.453										HNSCC(10;0.0054)																																							0													120	110	114					6																	152683425		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10179T>G	6.37:g.152683425A>C	ENSP00000356224:p.Ser3393Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S3393R	ENST00000367255.5	37	c.10179	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863510	0.32884	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.28	0.195	0.15151	.	0.084158	0.51477	D	0.000089	T	0.29524	0.0736	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.63880	0.989;0.989;0.989;0.993	P;P;P;D	0.65140	0.814;0.814;0.814;0.932	T	0.22661	-1.0210	10	0.17369	T	0.5	.	9.313	0.37917	0.7266:0.0:0.2734:0.0	.	3393;3393;3393;3400	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	R	3393;3400;3393;3400	ENSP00000356224:S3393R;ENSP00000396024:S3400R;ENSP00000265368:S3393R;ENSP00000390975:S3400R	ENSP00000265368:S3393R	S	-	3	2	SYNE1	152725118	0.988000	0.35896	0.953000	0.39169	0.127000	0.20565	0.518000	0.22847	-0.127000	0.11661	-0.274000	0.10170	AGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	31	0	A	NM_182961		152683425	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	152683425	A	C	152683425	3	2	67	1	0	0	0	0	1	0	0	0	15492	40	2	4	16619	4	SYNE1	6	152683425	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	212637	152683425	18431642	119	18294											
SYNE1	23345	genome.wustl.edu	37	chr6	152774796	152774796	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggaaggatgtcggtgagTtcatcacaagctttcaggaa	11	11	12	7	1	4	1	3	1	1	0	5	4	4	4	0	4	1	2	0	4	3	2	rs185885715		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:152774796T>G	ENST00000367255.5	-	25	3553	c.2952A>C	c.(2950-2952)gaA>gaC	p.E984D	SYNE1_ENST00000367253.4_Missense_Mutation_p.E984D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E991D|SYNE1_ENST00000495090.2_Missense_Mutation_p.E551D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1050D|SYNE1_ENST00000367248.3_Missense_Mutation_p.E974D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E984D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E991D|SYNE1_ENST00000413186.2_Missense_Mutation_p.E984D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	984					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTCGGTGAGTTCATCACAAG	0.522										HNSCC(10;0.0054)																																							0													130	118	122					6																	152774796		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2952A>C	6.37:g.152774796T>G	ENSP00000356224:p.Glu984Asp		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E984D	ENST00000367255.5	37	c.2952	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923344	0.33908	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.99	-1.52	0.08637	.	0.197575	0.34906	N	0.003596	T	0.23886	0.0578	L	0.55834	1.745	0.80722	D	1	B;P;B;B;B;P;P	0.48089	0.012;0.846;0.048;0.048;0.082;0.846;0.905	B;P;B;B;B;P;P	0.53988	0.016;0.553;0.054;0.046;0.117;0.553;0.739	T	0.11567	-1.0582	10	0.25751	T	0.34	.	7.5914	0.28023	0.0:0.3989:0.113:0.4881	.	967;984;551;974;984;984;991	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	D	984;991;984;991;1050;984;974;984;551	ENSP00000356224:E984D;ENSP00000396024:E991D;ENSP00000265368:E984D;ENSP00000390975:E991D;ENSP00000341887:E1050D;ENSP00000356222:E984D;ENSP00000356217:E974D;ENSP00000414510:E984D;ENSP00000438508:E551D	ENSP00000265368:E984D	E	-	3	2	SYNE1	152816489	0.933000	0.31639	0.897000	0.35233	0.804000	0.45430	0.044000	0.13992	-0.121000	0.11787	-0.290000	0.09829	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	64	0	T	NM_182961		152774796	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	27.87	43	17	SNP	0.987	G	G	152774796	T	G	152774796	3	3	67	1	0	0	0	0	1	0	0	0	15492	1722	60	4	24002	4	SYNE1	6	152774796	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	91371	152774796	18340271	120	18295											
SYNE1	23345	genome.wustl.edu	37	chr6	152831487	152831487	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagactggagctggggcaggTtgctggtcaactcttcaatc	9	10	13	9	0	3	1	2	0	1	1	4	2	3	2	0	5	3	4	0	5	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:152831487T>G	ENST00000367255.5	-	8	1023	c.422A>C	c.(421-423)aAc>aCc	p.N141T	SYNE1_ENST00000367253.4_Missense_Mutation_p.N141T|SYNE1_ENST00000448038.1_Missense_Mutation_p.N148T|SYNE1_ENST00000466159.2_Missense_Mutation_p.N141T|SYNE1_ENST00000341594.5_Missense_Mutation_p.N141T|SYNE1_ENST00000367248.3_Missense_Mutation_p.N148T|SYNE1_ENST00000265368.4_Missense_Mutation_p.N141T|SYNE1_ENST00000423061.1_Missense_Mutation_p.N148T|SYNE1_ENST00000413186.2_Missense_Mutation_p.N141T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	141	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGGGCAGGTTGCTGGTCAA	0.463										HNSCC(10;0.0054)																																							0													86	75	79					6																	152831487		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.422A>C	6.37:g.152831487T>G	ENSP00000356224:p.Asn141Thr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.N141T	ENST00000367255.5	37	c.422	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	15.18	2.756883	0.49362	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.66	5.66	0.87406	Calponin homology domain (1);	0.000000	0.64402	D	0.000003	D	0.95683	0.8596	L	0.42529	1.33	0.80722	D	1	D;D;P;D;D	0.76494	0.995;0.999;0.939;0.999;0.997	P;D;P;D;D	0.69142	0.852;0.962;0.625;0.962;0.929	D	0.96169	0.9121	10	0.54805	T	0.06	.	15.8952	0.79329	0.0:0.0:0.0:1.0	.	141;141;141;141;148	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	141;148;141;148;141;141;148;141;141;141	ENSP00000356224:N141T;ENSP00000396024:N148T;ENSP00000265368:N141T;ENSP00000390975:N148T;ENSP00000341887:N141T;ENSP00000356222:N141T;ENSP00000356217:N148T;ENSP00000414510:N141T;ENSP00000446021:N141T;ENSP00000441264:N141T	ENSP00000265368:N141T	N	-	2	0	SYNE1	152873180	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.281000	0.72632	2.166000	0.68216	0.519000	0.50382	AAC	SYNE1	-	superfamily_CH-domain	ENSG00000131018		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	62	0	T	NM_182961		152831487	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	G	G	152831487	T	G	152831487	3	3	67	1	0	0	0	0	1	0	0	0	15492	1725	60	4	26600	4	SYNE1	6	152831487	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	56691	152831487	18283580	121	18296											
IGF2R	3482	genome.wustl.edu	37	chr6	160505029	160505029	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttaagtgtgatgaagatGaggacattgggaggccacaa	14	10	13	4	0	0	4	0	3	0	1	0	6	0	6	1	3	0	0	1	3	4	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:160505029G>T	ENST00000356956.1	+	40	6029	c.5881G>T	c.(5881-5883)Gag>Tag	p.E1961*		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1961					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.E1961K(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TGATGAAGATGAGGACATTGG	0.468																																																	1	Substitution - Missense(1)	lung(1)											133	118	123					6																	160505029		2203	4300	6503	SO:0001587	stop_gained	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5881G>T	6.37:g.160505029G>T	ENSP00000349437:p.Glu1961*		Q7Z7G9|Q96PT5	Nonsense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.E1961*	ENST00000356956.1	37	c.5881	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	46	12.816412	0.99698	.	.	ENSG00000197081	ENST00000356956	.	.	.	5.25	4.38	0.52667	.	0.386402	0.29113	N	0.013108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-11.4236	14.7933	0.69860	0.0726:0.0:0.9274:0.0	.	.	.	.	X	1961	.	ENSP00000349437:E1961X	E	+	1	0	IGF2R	160425019	0.991000	0.36638	0.001000	0.08648	0.861000	0.49209	6.008000	0.70739	2.894000	0.99253	0.655000	0.94253	GAG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.468	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1		0	24	0	G	NM_000876		160505029	1			no_errors	ENST00000356956	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	0.279	T	T	160505029	G	T	160505029	4	4	67	1	0	0	0	0	0	1	0	0	7603	1291	45	3	6039	3	IGF2R	6	160505029	Nonsense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	7673542	160505029	10610038	122	18297											
PLG	5340	genome.wustl.edu	37	chr6	161173176	161173176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggccttctcaaggaaGcccagctccctgtgattgag	8	9	12	12	0	1	2	1	2	1	0	3	4	2	3	3	2	3	2	3	2	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr6:161173176G>T	ENST00000308192.9	+	18	2218	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	719	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCTCAAGGAAGCCCAGCTCCC	0.468																																																	0													59	59	59					6																	161173176		2203	4300	6503	SO:0001583	missense	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2155G>T	6.37:g.161173176G>T	ENSP00000308938:p.Ala719Ser		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1	p.A719S	ENST00000308192.9	37	c.2155	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	.	14.51	2.555485	0.45487	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.83250	-1.7	3.38	3.38	0.38709	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.187720	0.25634	U	0.029336	D	0.82277	0.5002	M	0.67569	2.06	0.44036	D	0.996761	P	0.40250	0.709	P	0.54460	0.753	D	0.83935	0.0308	10	0.66056	D	0.02	.	7.8074	0.29211	0.182:0.0:0.818:0.0	.	719	P00747	PLMN_HUMAN	S	719;119	ENSP00000308938:A719S	ENSP00000308938:A719S	A	+	1	0	PLG	161093166	1.000000	0.71417	0.896000	0.35187	0.330000	0.28571	3.207000	0.51106	1.582000	0.49881	0.411000	0.27672	GCC	PLG	-	pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000122194		0.468	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	-	0	70	0	G	NM_000301		161173176	1	tier1	-	no_errors	ENST00000308192	ensembl	human	known	74_37	missense	31.65	54	25	SNP	0.992	T	T	161173176	G	T	161173176	3	4	67	1	0	0	0	0	1	0	0	0	12125	971	34	3	2229	3	PLG	6	161173176	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	668147	161173176	9941891	123	18298											
CYP2W1	54905	genome.wustl.edu	37	chr7	1024894	1024894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgactaccgggaccccGtgtttgtgtccctgctgggt	4	13	13	11	2	0	1	0	1	0	0	1	3	1	2	4	2	2	2	4	2	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:1024894G>A	ENST00000308919.7	+	4	593	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	CYP2W1_ENST00000340150.6_Missense_Mutation_p.V138M	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	194					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCGGGACCCCGTGTTTGTGTC	0.662																																																	0													47	34	39					7																	1024894		2134	4217	6351	SO:0001583	missense	0			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.580G>A	7.37:g.1024894G>A	ENSP00000310149:p.Val194Met			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.V194M	ENST00000308919.7	37	c.580	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	G	9.957	1.221752	0.22457	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.68181	-0.31;-0.31	5.06	0.533	0.17121	.	0.737237	0.12925	N	0.427874	T	0.46288	0.1385	N	0.26042	0.785	0.09310	N	1	B;P	0.34629	0.29;0.46	B;B	0.32805	0.153;0.108	T	0.33904	-0.9850	10	0.49607	T	0.09	.	3.9097	0.09197	0.4998:0.2405:0.2597:0.0	.	138;194	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	M	194;138	ENSP00000310149:V194M;ENSP00000344178:V138M	ENSP00000310149:V194M	V	+	1	0	CYP2W1	991420	0.000000	0.05858	0.270000	0.24601	0.654000	0.38779	0.772000	0.26647	0.168000	0.19655	0.491000	0.48974	GTG	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000073067		0.662	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0	63	0	G	NM_017781		1024894	1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	26.58	58	21	SNP	0.000	A	A	1024894	G	A	1024894	3	1	67	1	0	0	0	0	1	0	0	0	4185	1145	40	1	594	1	CYP2W1	7	1024894	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09		1024894	158113769	124	18299											
SCIN	85477	genome.wustl.edu	37	chr7	12668813	12668813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactgctacatcatactcTacacctatcccagaggacag	12	9	7	13	0	2	2	1	1	1	1	3	3	3	3	2	1	4	1	2	1	4	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:12668813T>G	ENST00000297029.5	+	9	1386	c.1285T>G	c.(1285-1287)Tac>Gac	p.Y429D	SCIN_ENST00000519209.1_Missense_Mutation_p.Y182D|SCIN_ENST00000445618.2_Missense_Mutation_p.Y182D	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	429	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CATCATACTCTACACCTATCC	0.418																																																	0													162	154	157					7																	12668813		1902	4128	6030	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1285T>G	7.37:g.12668813T>G	ENSP00000297029:p.Tyr429Asp		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.Y429D	ENST00000297029.5	37	c.1285	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089681	0.76756	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.33865	1.39;1.39;1.39	5.1	5.1	0.69264	Gelsolin domain (1);	0.062472	0.64402	D	0.000003	T	0.67088	0.2856	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75560	-0.3275	10	0.87932	D	0	-13.919	15.1772	0.72924	0.0:0.0:0.0:1.0	.	429	Q9Y6U3	ADSV_HUMAN	D	429;182;182	ENSP00000297029:Y429D;ENSP00000430997:Y182D;ENSP00000390189:Y182D	ENSP00000297029:Y429D	Y	+	1	0	SCIN	12635338	1.000000	0.71417	0.997000	0.53966	0.721000	0.41392	7.655000	0.83696	2.037000	0.60232	0.379000	0.24179	TAC	SCIN	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	ENSG00000006747		0.418	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	-	0	26	0	T	NM_033128		12668813	1	tier1	-	no_errors	ENST00000297029	ensembl	human	known	74_37	missense	46.81	25	22	SNP	0.998	G	G	12668813	T	G	12668813	3	3	67	1	0	0	0	0	1	0	0	0	13950	1522	53	4	1319	4	SCIN	7	12668813	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	11643919	12668813	146469850	125	18300											
ZNF680	340252	genome.wustl.edu	37	chr7	63982586	63982586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgccacattctttacatttGaaaaccttctttccagtatt	10	18	3	10	0	2	1	0	1	2	0	3	1	3	1	3	0	3	1	3	0	4	9			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:63982586G>C	ENST00000309683.6	-	4	697	c.546C>G	c.(544-546)ttC>ttG	p.F182L	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CTTTACATTTGAAAACCTTCT	0.303																																																	0													49	46	47					7																	63982586		2201	4299	6500	SO:0001583	missense	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.546C>G	7.37:g.63982586G>C	ENSP00000309330:p.Phe182Leu		B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F182L	ENST00000309683.6	37	c.546	CCDS34644.1	7	.	.	.	.	.	.	.	.	.	.	g	9.177	1.022500	0.19433	.	.	ENSG00000173041	ENST00000309683	T	0.58060	0.36	1.36	-0.584	0.11702	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48352	0.1495	M	0.62154	1.92	0.31648	N	0.647126	P	0.48407	0.91	P	0.46685	0.524	T	0.54715	-0.8252	9	0.59425	D	0.04	.	3.4423	0.07468	0.5821:0.0:0.4179:0.0	.	182	Q8NEM1	ZN680_HUMAN	L	182	ENSP00000309330:F182L	ENSP00000309330:F182L	F	-	3	2	ZNF680	63620021	0.000000	0.05858	0.010000	0.14722	0.178000	0.23041	-0.200000	0.09478	-0.178000	0.10672	0.491000	0.48974	TTC	ZNF680	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173041		0.303	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	-	0	76	0	G	NM_178558		63982586	-1	tier1	-	no_errors	ENST00000309683	ensembl	human	known	74_37	missense	47.13	46	41	SNP	0.241	C	C	63982586	G	C	63982586	3	2	67	1	0	0	0	0	1	0	0	0	18135	1281	45	5	1050	5	ZNF680	7	63982586	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	51313773	63982586	95156077	126	18301											
PCLO	27445	genome.wustl.edu	37	chr7	82545548	82545548	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtctgataaggtgaaacTtgctgatggtacaaagtttg	12	13	12	4	0	1	4	0	4	1	0	1	4	1	4	0	2	3	3	0	2	4	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:82545548T>G	ENST00000333891.9	-	7	12091	c.11754A>C	c.(11752-11754)caA>caC	p.Q3918H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3918H|PCLO_ENST00000437081.1_Missense_Mutation_p.Q638H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGGTGAAACTTGCTGATGGT	0.463																																																	0													404	400	401					7																	82545548		2027	4176	6203	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11754A>C	7.37:g.82545548T>G	ENSP00000334319:p.Gln3918His			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q3918H	ENST00000333891.9	37	c.11754	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	8.375	0.836313	0.16891	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18174	2.23;2.23	5.51	1.49	0.22878	.	.	.	.	.	T	0.23330	0.0564	L	0.44542	1.39	0.42839	D	0.994048	P;P;D	0.61697	0.61;0.937;0.99	P;P;P	0.56960	0.525;0.74;0.81	T	0.02546	-1.1143	9	0.87932	D	0	.	7.2526	0.26158	0.0:0.4738:0.0:0.5262	.	3849;3918;3918	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	3918;3918;638	ENSP00000334319:Q3918H;ENSP00000388393:Q3918H	ENSP00000334319:Q3918H	Q	-	3	2	PCLO	82383484	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.568000	0.23623	0.415000	0.25817	0.460000	0.39030	CAA	PCLO	-	NULL	ENSG00000186472		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	153	0	T	NM_014510		82545548	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	24.89	175	58	SNP	1.000	G	G	82545548	T	G	82545548	3	3	67	1	0	0	0	0	1	0	0	0	11622	1606	56	4	3767	4	PCLO	7	82545548	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	18562962	82545548	76593115	127	18302											
PCLO	27445	genome.wustl.edu	37	chr7	82585782	82585782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcatcaacaaactcagacTtctctttatggtccttgctg	9	15	6	11	0	4	1	3	0	1	1	6	1	5	1	1	1	3	1	1	1	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:82585782T>G	ENST00000333891.9	-	5	4824	c.4487A>C	c.(4486-4488)aAg>aCg	p.K1496T	PCLO_ENST00000423517.2_Missense_Mutation_p.K1496T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACTCAGACTTCTCTTTATG	0.368																																																	0													119	108	111					7																	82585782		1851	4090	5941	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4487A>C	7.37:g.82585782T>G	ENSP00000334319:p.Lys1496Thr			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.K1496T	ENST00000333891.9	37	c.4487	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	4.823	0.153075	0.09185	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17054	2.3;2.3	5.47	0.388	0.16264	.	.	.	.	.	T	0.11324	0.0276	L	0.36672	1.1	0.09310	N	1	B;B	0.29301	0.241;0.241	B;B	0.21917	0.037;0.037	T	0.26710	-1.0095	9	0.87932	D	0	.	4.2029	0.10475	0.1388:0.2275:0.0:0.6336	.	1496;1496	Q9Y6V0-5;Q9Y6V0-6	.;.	T	1427;1496;1496	ENSP00000334319:K1496T;ENSP00000388393:K1496T	ENSP00000334319:K1496T	K	-	2	0	PCLO	82423718	0.000000	0.05858	0.000000	0.03702	0.617000	0.37484	0.314000	0.19432	0.046000	0.15833	-0.256000	0.11100	AAG	PCLO	-	NULL	ENSG00000186472		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	59	0	T	NM_014510		82585782	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	7.84	94	8	SNP	0.000	G	G	82585782	T	G	82585782	3	3	67	1	0	0	0	0	1	0	0	0	11622	1609	56	4	11042	4	PCLO	7	82585782	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	40234	82585782	76552881	128	18303											
ABCB1	5243	genome.wustl.edu	37	chr7	87150134	87150134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcatacatatgttcaaacTtctgctcctgagtcaaagaa	14	11	7	9	0	3	2	2	1	1	1	4	3	4	2	1	0	4	3	1	0	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:87150134T>G	ENST00000265724.3	-	23	3161	c.2744A>C	c.(2743-2745)aAg>aCg	p.K915T	ABCB1_ENST00000543898.1_Missense_Mutation_p.K851T|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	915	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATGTTCAAACTTCTGCTCCTG	0.413																																																	0													132	122	126					7																	87150134		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2744A>C	7.37:g.87150134T>G	ENSP00000265724:p.Lys915Thr		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.K915T	ENST00000265724.3	37	c.2744	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460035	0.26248	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90069	-2.61;-2.61	5.28	4.13	0.48395	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.045379	0.85682	D	0.000000	D	0.88396	0.6425	L	0.35593	1.075	0.51012	D	0.999907	B;D	0.53885	0.003;0.963	B;D	0.75020	0.077;0.985	D	0.83935	0.0308	10	0.24483	T	0.36	-16.6982	5.1519	0.15015	0.1329:0.1469:0.0:0.7202	.	851;915	B5AK60;P08183	.;MDR1_HUMAN	T	696;915;851	ENSP00000265724:K915T;ENSP00000444095:K851T	ENSP00000265724:K915T	K	-	2	0	ABCB1	86988070	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.222000	0.32515	0.849000	0.35215	0.533000	0.62120	AAG	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.413	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	-	0	45	0	T	NM_000927		87150134	-1	tier1	-	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	15.62	54	10	SNP	1.000	G	G	87150134	T	G	87150134	3	3	67	1	0	0	0	0	1	0	0	0	40	1609	56	4	1126	4	ABCB1	7	87150134	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	4564352	87150134	71988529	129	18304											
C7orf63	79846	genome.wustl.edu	37	chr7	89894658	89894658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggatgaaataacttatGctgaagatactgctaattca	14	13	8	6	1	1	3	1	2	0	1	2	4	1	4	0	1	4	2	0	1	6	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:89894658G>A	ENST00000389297.4	+	5	651	c.400G>A	c.(400-402)Gct>Act	p.A134T	C7orf63_ENST00000463311.1_3'UTR|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000497910.1_Missense_Mutation_p.A134T|C7orf63_ENST00000316089.8_Missense_Mutation_p.A134T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		134										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AATAACTTATGCTGAAGATAC	0.328																																																	0													151	148	149					7																	89894658		1827	4094	5921	SO:0001583	missense	0																														ENST00000389297.4:c.400G>A	7.37:g.89894658G>A	ENSP00000373948:p.Ala134Thr		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A134T	ENST00000389297.4	37	c.400	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337738	0.81911	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	5.29	4.39	0.52855	.	0.135474	0.47852	N	0.000201	T	0.16896	0.0406	L	0.48362	1.52	0.30781	N	0.741975	B;B;P	0.35656	0.088;0.01;0.514	B;B;B	0.31614	0.089;0.018;0.133	T	0.10823	-1.0613	10	0.39692	T	0.17	-6.7542	9.0308	0.36258	0.0812:0.0:0.7628:0.156	.	134;134;132	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	T	134;134;134;74	ENSP00000373948:A134T;ENSP00000321753:A134T;ENSP00000419549:A134T;ENSP00000392365:A74T	ENSP00000321753:A134T	A	+	1	0	C7orf63	89732594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.574000	0.46016	1.184000	0.42957	0.591000	0.81541	GCT	C7orf63	-	NULL	ENSG00000105792		0.328	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	-	0	42	0	G			89894658	1	tier1	-	no_errors	ENST00000389297	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	A	A	89894658	G	A	89894658	3	1	67	1	0	0	0	0	1	0	0	0	2416	1319	46	3	418	3	C7orf63	7	89894658	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	2744524	89894658	69244005	130	18305											
TFPI2	7980	genome.wustl.edu	37	chr7	93519623	93519623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggagacagatctccgCgttatttcctgaagaagggg	10	8	15	8	2	1	4	0	1	1	3	3	5	2	4	2	4	0	2	2	4	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:93519623C>T	ENST00000222543.5	-	2	409	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Missense_Mutation_p.A33T|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	33					blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAGATCTCCGCGTTATTTCCT	0.567																																																	0													35	38	37					7																	93519623		2203	4300	6503	SO:0001583	missense	0			L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.97G>A	7.37:g.93519623C>T	ENSP00000222543:p.Ala33Thr		Q66ME8|Q8NAK6|Q9UC86	Missense_Mutation	SNP	pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.A33T	ENST00000222543.5	37	c.97	CCDS5632.1	7	.	.	.	.	.	.	.	.	.	.	C	9.391	1.075567	0.20227	.	.	ENSG00000105825	ENST00000222543;ENST00000545378	T;T	0.58060	0.36;0.36	5.07	-0.325	0.12702	Proteinase inhibitor I2, Kunitz metazoa (3);	1.281220	0.05315	N	0.525576	T	0.20981	0.0505	N	0.08118	0	0.09310	N	1	B;P;B	0.36974	0.44;0.576;0.44	B;B;B	0.23716	0.022;0.048;0.022	T	0.10683	-1.0619	10	0.14252	T	0.57	.	0.757	0.01000	0.1752:0.2448:0.1608:0.4192	.	4;33;33	A4ZVU7;F5H3J8;P48307	.;.;TFPI2_HUMAN	T	33	ENSP00000222543:A33T;ENSP00000438861:A33T	ENSP00000222543:A33T	A	-	1	0	TFPI2	93357559	0.000000	0.05858	0.001000	0.08648	0.462000	0.32619	-0.203000	0.09438	0.225000	0.20959	0.313000	0.20887	GCG	TFPI2	-	pirsf_Prot_inhib_I2_TFPI,superfamily_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	ENSG00000105825		0.567	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPI2	HGNC	protein_coding	OTTHUMT00000254720.2	-	0	52	0	C	NM_006528		93519623	-1	tier1	-	no_errors	ENST00000222543	ensembl	human	known	74_37	missense	21.43	55	15	SNP	0.000	T	T	93519623	C	T	93519623	3	4	67	1	0	0	0	0	1	0	0	0	15856	768	27	1	626	1	TFPI2	7	93519623	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	3624965	93519623	65619040	131	18306											
RELN	5649	genome.wustl.edu	37	chr7	103322622	103322622	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatatcttctgtggaaagAtctacatccctggtggtggc	9	13	11	8	0	3	2	0	1	3	1	4	3	4	3	1	4	1	0	1	4	4	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:103322622A>G	ENST00000428762.1	-	11	1389	c.1230T>C	c.(1228-1230)gaT>gaC	p.D410D	RELN_ENST00000424685.2_Silent_p.D410D|RELN_ENST00000343529.5_Silent_p.D410D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	410					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGTGGAAAGATCTACATCCC	0.433																																					NSCLC(146;835 1944 15585 22231 52158)												0													168	153	158					7																	103322622		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1230T>C	7.37:g.103322622A>G			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D410	ENST00000428762.1	37	c.1230	CCDS47680.1	7																																																																																			RELN	-	NULL	ENSG00000189056		0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	37	0	A	NM_005045		103322622	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	16.88	64	13	SNP	1.000	G	G	103322622	A	G	103322622	2	3	67	1	0	0	0	0	0	0	0	1	13265	330	12	4		4	RELN	7	103322622	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	9802999	103322622	55816041	132	18307											
SLC26A3	1811	genome.wustl.edu	37	chr7	107423731	107423731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcaaatgcaaccattgcGatgccgaagcaatctcctac	13	8	7	13	2	1	0	0	0	1	0	2	2	1	0	3	0	7	3	3	0	5	2	rs373747349|rs386833445		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:107423731G>A	ENST00000340010.5	-	9	1222	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	SLC26A3_ENST00000422236.2_Silent_p.I311I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	346			FGIAMV -> DA (in DIAR1). {ECO:0000269|PubMed:21394828}.		anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAACCATTGCGATGCCGAAGC	0.433																																																	0								G		0,4406		0,0,2203	97	94	95		1038	0.8	0.9	7		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC26A3	NM_000111.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		346/765	107423731	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1038C>T	7.37:g.107423731G>A				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I346	ENST00000340010.5	37	c.1038	CCDS5748.1	7																																																																																			SLC26A3	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091138		0.433	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0	43	0	G	NM_000111		107423731	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.999	A	A	107423731	G	A	107423731	2	1	67	1	0	0	0	0	0	0	0	1	14563	1048	37	1		1	SLC26A3	7	107423731	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	4101109	107423731	51714932	133	18308											
TFEC	22797	genome.wustl.edu	37	chr7	115580835	115580835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatcacagagctcagggcTtggcccctgagacacagtca	10	8	11	12	0	3	3	3	2	0	2	3	4	3	3	2	2	1	2	2	2	0	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:115580835T>C	ENST00000265440.7	-	8	994	c.814A>G	c.(814-816)Agc>Ggc	p.S272G	TFEC_ENST00000320239.7_Missense_Mutation_p.S243G|TFEC_ENST00000457268.1_Missense_Mutation_p.S205G|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	272	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AGCTCAGGGCTTGGCCCCTGA	0.448																																																	0													165	161	162					7																	115580835		2203	4300	6503	SO:0001583	missense	0			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"Basic helix-loop-helix proteins"	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.814A>G	7.37:g.115580835T>C	ENSP00000265440:p.Ser272Gly		B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S272G	ENST00000265440.7	37	c.814	CCDS5762.1	7	.	.	.	.	.	.	.	.	.	.	T	3.005	-0.205076	0.06180	.	.	ENSG00000105967	ENST00000265440;ENST00000457268;ENST00000320239	T;T;T	0.63913	-0.07;-0.07;-0.07	5.34	5.34	0.76211	.	0.630013	0.18282	N	0.145984	T	0.60470	0.2271	L	0.58101	1.795	0.09310	N	1	B;B	0.30236	0.274;0.112	B;B	0.33960	0.173;0.119	T	0.58002	-0.7713	10	0.51188	T	0.08	-6.3945	11.9055	0.52708	0.0:0.0:0.1455:0.8545	.	243;272	O14948-2;O14948	.;TFEC_HUMAN	G	272;205;243	ENSP00000265440:S272G;ENSP00000387650:S205G;ENSP00000318676:S243G	ENSP00000265440:S272G	S	-	1	0	TFEC	115368071	0.526000	0.26298	0.139000	0.22197	0.080000	0.17528	1.488000	0.35551	2.012000	0.59069	0.528000	0.53228	AGC	TFEC	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000105967		0.448	TFEC-001	KNOWN	basic|CCDS	protein_coding	TFEC	HGNC	protein_coding	OTTHUMT00000059839.4	-	0	54	0	T	NM_012252		115580835	-1	tier1	-	no_errors	ENST00000265440	ensembl	human	known	74_37	missense	16.22	62	12	SNP	0.004	C	C	115580835	T	C	115580835	3	2	67	1	0	0	0	0	1	0	0	0	15849	1609	56	4	233	4	TFEC	7	115580835	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	8157104	115580835	43557828	134	18309											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121651971	121651971	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgattctgtgggtgtaacTtatcagggttccttatttag	8	17	10	6	0	2	1	1	1	1	0	3	1	3	1	1	2	1	2	1	2	4	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:121651971T>G	ENST00000393386.2	+	12	3282	c.2871T>G	c.(2869-2871)acT>acG	p.T957T	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	957					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGGTGTAACTTATCAGGGTT	0.443																																																	0													146	133	137					7																	121651971		2203	4300	6503	SO:0001819	synonymous_variant	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2871T>G	7.37:g.121651971T>G			A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.T957	ENST00000393386.2	37	c.2871	CCDS34740.1	7																																																																																			PTPRZ1	-	NULL	ENSG00000106278		0.443	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	66	0	T	NM_002851		121651971	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	silent	14.29	60	10	SNP	0.693	G	G	121651971	T	G	121651971	2	3	67	1	0	0	0	0	0	0	0	1	12859	1596	56	4		4	PTPRZ1	7	121651971	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	6071136	121651971	37486692	135	18310											
GIMAP8	155038	genome.wustl.edu	37	chr7	150174550	150174550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagactttacgaaatacgcGattatgctgttcacccggaa	12	10	9	10	4	1	1	1	0	0	1	1	4	1	2	1	1	3	3	1	1	5	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:150174550G>A	ENST00000307271.3	+	5	2254	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	560	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGAAATACGCGATTATGCTGT	0.473																																																	0													90	91	91					7																	150174550		2203	4300	6503	SO:0001819	synonymous_variant	0			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"GTPases, IMAP"	21792	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 9"					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1680G>A	7.37:g.150174550G>A				Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.A560	ENST00000307271.3	37	c.1680	CCDS34777.1	7																																																																																			GIMAP8	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000171115		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	HGNC	protein_coding	OTTHUMT00000350701.1	-	0	31	0	G	NM_175571		150174550	1	tier1	-	no_errors	ENST00000307271	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.000	A	A	150174550	G	A	150174550	2	1	67	1	0	0	0	0	0	0	0	1	6411	1045	37	1		1	GIMAP8	7	150174550	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	28522579	150174550	8964113	136	18311											
SLC4A2	6522	genome.wustl.edu	37	chr7	150767861	150767861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcctttgtgcggctcCgggaggctgtggagttggac	4	10	17	10	2	0	0	0	0	0	0	1	3	1	3	3	6	1	3	3	6	0	2	rs146252856		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr7:150767861C>T	ENST00000485713.1	+	12	2652	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R524W|SLC4A2_ENST00000310317.5_Missense_Mutation_p.R456W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R529W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R538W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	538					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTGCGGCTCCGGGAGGCTGT	0.647																																																	0								C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	93	88	90		1612,1585,1570,1612	4.3	1	7	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SLC4A2	NM_001199692.1,NM_001199693.1,NM_001199694.1,NM_003040.3	101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	538/1242,529/1233,524/1228,538/1242	150767861	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"Solute carriers"	11028	protein-coding gene	gene with protein product	"anion exchanger 2 type a", "anion exchanger 2 type b1", "anion exchanger 2 type b2"	109280	"erythrocyte membrane protein band 3-like 1", "solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1612C>T	7.37:g.150767861C>T	ENSP00000419412:p.Arg538Trp		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk	p.R538W	ENST00000485713.1	37	c.1612	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389745	0.61956	0.0	1.16E-4	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.27	4.34	0.51931	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.139590	0.49916	D	0.000140	D	0.85327	0.5671	L	0.60455	1.87	0.34743	D	0.730937	D;D;D	0.69078	0.993;0.997;0.997	P;P;P	0.61658	0.827;0.827;0.892	D	0.89970	0.4093	10	0.87932	D	0	.	12.9717	0.58515	0.0:0.709:0.291:0.0	.	529;524;538	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	W	538;538;456;529;524	ENSP00000419412:R538W;ENSP00000405600:R538W;ENSP00000311402:R456W;ENSP00000376571:R529W;ENSP00000419164:R524W	ENSP00000311402:R456W	R	+	1	2	SLC4A2	150398794	0.686000	0.27661	1.000000	0.80357	0.816000	0.46133	0.569000	0.23638	2.474000	0.83562	0.650000	0.86243	CGG	SLC4A2	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000164889		0.647	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	-	0	85	0	C	NM_003040		150767861	1	tier1	rs146252856	no_errors	ENST00000413384	ensembl	human	known	74_37	missense	33.33	52	26	SNP	0.992	T	T	150767861	C	T	150767861	3	4	67	1	0	0	0	0	1	0	0	0	14699	643	23	1	1654	1	SLC4A2	7	150767861	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	593311	150767861	8370802	137	18312											
NRG1	3084	genome.wustl.edu	37	chr8	32621602	32621602	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagagtacgagccagcccaAgagcctgttaagaaactcgc	14	5	10	12	2	0	3	0	0	0	3	1	4	0	3	3	0	5	2	3	0	5	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:32621602A>G	ENST00000405005.3	+	12	1605	c.1605A>G	c.(1603-1605)caA>caG	p.Q535Q	NRG1_ENST00000338921.4_Silent_p.Q543Q|NRG1_ENST00000287842.3_Silent_p.Q532Q|NRG1_ENST00000287845.5_Silent_p.Q506Q|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000519301.1_Silent_p.Q485Q|NRG1_ENST00000356819.4_Silent_p.Q540Q|NRG1_ENST00000539990.1_Silent_p.Q378Q|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	535				Q -> R (in Ref. 2; AAA19951). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGCCAGCCCAAGAGCCTGTTA	0.547																																																	0													53	51	52					8																	32621602		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1605A>G	8.37:g.32621602A>G			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.Q543	ENST00000405005.3	37	c.1629	CCDS6085.1	8																																																																																			NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	44	0	A			32621602	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.740	G	G	32621602	A	G	32621602	2	3	67	1	0	0	0	0	0	0	0	1	10686	69	3	4		4	NRG1	8	32621602	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		32621602	113742420	138	18313			1	14		2	2	12	A		9.842316e-05
NRG1	3084	genome.wustl.edu	37	chr8	32621613	32621613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagcccaagagcctgttaAgaaactcgccaatagccggc	12	5	10	14	2	0	2	0	0	0	2	1	2	0	2	5	1	4	1	5	1	5	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:32621613A>G	ENST00000405005.3	+	12	1616	c.1616A>G	c.(1615-1617)aAg>aGg	p.K539R	NRG1_ENST00000338921.4_Missense_Mutation_p.K547R|NRG1_ENST00000287842.3_Missense_Mutation_p.K536R|NRG1_ENST00000287845.5_Missense_Mutation_p.K510R|RP11-1002K11.1_ENST00000607314.1_lincRNA|NRG1_ENST00000519301.1_Missense_Mutation_p.K489R|NRG1_ENST00000356819.4_Missense_Mutation_p.K544R|NRG1_ENST00000539990.1_Missense_Mutation_p.K382R|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	539					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGCCTGTTAAGAAACTCGCC	0.537																																																	0													53	52	53					8																	32621613		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1616A>G	8.37:g.32621613A>G	ENSP00000384620:p.Lys539Arg		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.K547R	ENST00000405005.3	37	c.1640	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935045	0.52866	.	.	ENSG00000157168	ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	5.75	5.75	0.90469	Neuregulin 1-related, C-terminal (1);	0.208186	0.43416	D	0.000575	T	0.69287	0.3094	L	0.42686	1.345	0.52501	D	0.999958	D;D;D;P;D;D;D	0.76494	0.997;0.992;0.994;0.705;0.992;0.999;0.992	D;D;D;B;D;D;D	0.87578	0.994;0.94;0.973;0.359;0.94;0.998;0.954	T	0.67593	-0.5631	9	.	.	.	0.1095	16.0488	0.80740	1.0:0.0:0.0:0.0	.	382;510;544;547;536;539;544	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	R	489;612;547;544;539;510;536;539;382	ENSP00000429582:K489R;ENSP00000429067:K612R;ENSP00000343395:K547R;ENSP00000349275:K544R;ENSP00000287840:K539R;ENSP00000287845:K510R;ENSP00000287842:K536R;ENSP00000384620:K539R;ENSP00000439276:K382R	.	K	+	2	0	NRG1	32741155	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.772000	0.75001	2.199000	0.70637	0.374000	0.22700	AAG	NRG1	-	pfam_Neuregulin_1_C	ENSG00000157168		0.537	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	45	0	A			32621613	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	G	G	32621613	A	G	32621613	3	3	67	1	0	0	0	0	1	0	0	0	10686	72	3	4	3387	4	NRG1	8	32621613	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	11	32621613	113742409	139	18314			1	14		2	2	12	A		9.842316e-05
ADAM32	203102	genome.wustl.edu	37	chr8	39018479	39018479	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcatattgtggtggacaaaActttggtatgtgttttgctt	8	18	11	4	0	0	0	0	0	0	0	0	1	0	1	0	3	3	4	0	3	4	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:39018479A>C	ENST00000379907.4	+	7	716	c.589A>C	c.(589-591)Act>Cct	p.T197P	ADAM32_ENST00000519315.1_Missense_Mutation_p.T197P|ADAM32_ENST00000437682.2_Missense_Mutation_p.T204P	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	197	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GGTGGACAAAACTTTGGTATG	0.318																																																	0													154	131	138					8																	39018479		1830	4079	5909	SO:0001583	missense	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.589A>C	8.37:g.39018479A>C	ENSP00000369238:p.Thr197Pro		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.T197P	ENST00000379907.4	37	c.589	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	A	7.422	0.636862	0.14386	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907;ENST00000399826	T;T;T	0.63744	-0.06;-0.06;2.95	5.6	-1.43	0.08884	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.969230	0.03547	N	0.224847	T	0.54159	0.1841	L	0.39898	1.24	0.09310	N	0.999999	B;B;B	0.26258	0.145;0.087;0.083	B;B;B	0.38156	0.266;0.18;0.18	T	0.35475	-0.9787	9	.	.	.	.	1.3312	0.02135	0.3622:0.1666:0.3425:0.1286	.	204;197;197	E7EPX8;E7ER82;Q8TC27	.;.;ADA32_HUMAN	P	204;197;197;198	ENSP00000405978:T204P;ENSP00000429422:T197P;ENSP00000369238:T197P	.	T	+	1	0	ADAM32	39137636	0.178000	0.23122	0.418000	0.26571	0.301000	0.27625	-0.002000	0.12924	-0.316000	0.08690	-0.859000	0.03014	ACT	ADAM32	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000197140		0.318	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0	136	0	A	NM_145004		39018479	1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	28.40	121	48	SNP	0.487	C	C	39018479	A	C	39018479	3	2	67	1	0	0	0	0	1	0	0	0	249	43	2	4	615	4	ADAM32	8	39018479	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	6396866	39018479	107345543	140	18315											
ADAM2	2515	genome.wustl.edu	37	chr8	39695677	39695677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgcagcccgccgagccCgctgagcagaaacaagacgc	11	2	11	17	5	0	3	0	1	0	2	1	4	1	3	4	0	4	3	4	0	2	0	rs34800519	byFrequency	TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:39695677C>T	ENST00000265708.4	-	1	131	c.28G>A	c.(28-30)Ggg>Agg	p.G10R	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.G10R|ADAM2_ENST00000521880.1_Missense_Mutation_p.G10R|ADAM2_ENST00000347580.4_Missense_Mutation_p.G10R	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	10			G -> W (in dbSNP:rs34800519).		adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCGCCGAGCCCGCTGAGCAGA	0.572																																																	0													80	80	80					8																	39695677		2203	4300	6503	SO:0001583	missense	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.28G>A	8.37:g.39695677C>T	ENSP00000265708:p.Gly10Arg		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G10R	ENST00000265708.4	37	c.28	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142789	0.57044	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02121	5.07;4.44;5.31;5.27	3.26	3.26	0.37387	.	.	.	.	.	T	0.10078	0.0247	M	0.71581	2.175	0.18873	N	0.999985	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;D	0.77557	0.808;0.99;0.936;0.935	T	0.04976	-1.0914	8	.	.	.	.	10.2854	0.43564	0.0:1.0:0.0:0.0	.	10;10;10;10	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	R	10	ENSP00000343854:G10R;ENSP00000369182:G10R;ENSP00000265708:G10R;ENSP00000429352:G10R	.	G	-	1	0	ADAM2	39814834	0.048000	0.20356	0.275000	0.24674	0.128000	0.20619	1.104000	0.31074	2.114000	0.64651	0.460000	0.39030	GGG	ADAM2	-	NULL	ENSG00000104755		0.572	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0	61	0	C	NM_001464		39695677	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	8.54	75	7	SNP	0.295	T	T	39695677	C	T	39695677	3	4	67	1	0	0	0	0	1	0	0	0	241	652	23	1	2259	1	ADAM2	8	39695677	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	677198	39695677	106668345	141	18316											
PXDNL	137902	genome.wustl.edu	37	chr8	52233397	52233397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcgctcctcggccttccTtggaacccctctaacatctg	6	10	7	18	2	2	0	0	0	2	0	5	1	4	1	6	2	3	1	6	2	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:52233397T>C	ENST00000356297.4	-	22	4307	c.4207A>G	c.(4207-4209)Agg>Ggg	p.R1403G	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1403	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCGGCCTTCCTTGGAACCCCT	0.512																																																	0													153	166	161					8																	52233397		1949	4143	6092	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4207A>G	8.37:g.52233397T>C	ENSP00000348645:p.Arg1403Gly		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.R1403G	ENST00000356297.4	37	c.4207	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628808	0.28978	.	.	ENSG00000147485	ENST00000356297	T	0.72394	-0.65	4.49	1.79	0.24919	von Willebrand factor, type C (3);	.	.	.	.	T	0.78515	0.4295	M	0.72894	2.215	0.09310	N	1	P	0.52316	0.952	P	0.60949	0.881	T	0.64846	-0.6311	9	0.66056	D	0.02	.	8.2279	0.31579	0.0:0.0:0.3193:0.6807	.	1403	A1KZ92	PXDNL_HUMAN	G	1403	ENSP00000348645:R1403G	ENSP00000348645:R1403G	R	-	1	2	PXDNL	52395950	0.015000	0.18098	0.038000	0.18304	0.019000	0.09904	0.835000	0.27531	1.656000	0.50722	0.533000	0.62120	AGG	PXDNL	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000147485		0.512	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	57	0	T	NM_144651		52233397	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	54.72	24	29	SNP	0.012	C	C	52233397	T	C	52233397	3	2	67	1	0	0	0	0	1	0	0	0	12893	1608	56	4	192	4	PXDNL	8	52233397	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	12537720	52233397	94130625	142	18317											
RB1CC1	9821	genome.wustl.edu	37	chr8	53568895	53568895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttttttctatttcaaatGcttggttatgcaaagatgtt	9	20	8	4	0	2	1	1	0	1	1	2	1	2	1	0	2	2	5	0	2	4	8			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:53568895G>T	ENST00000025008.5	-	15	4017	c.3494C>A	c.(3493-3495)gCa>gAa	p.A1165E	RB1CC1_ENST00000539297.1_Missense_Mutation_p.A1165E|RB1CC1_ENST00000435644.2_Missense_Mutation_p.A1165E|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1165					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TATTTCAAATGCTTGGTTATG	0.279																																					GBM(180;1701 2102 13475 42023 52570)												0													67	67	67					8																	53568895		2203	4298	6501	SO:0001583	missense	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3494C>A	8.37:g.53568895G>T	ENSP00000025008:p.Ala1165Glu		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.A1165E	ENST00000025008.5	37	c.3494	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282438	0.23392	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.18174	2.23;2.23;2.23	5.14	5.14	0.70334	.	0.172294	0.49916	D	0.000140	T	0.14570	0.0352	L	0.29908	0.895	0.41007	D	0.984974	P;P	0.46512	0.879;0.808	B;B	0.41988	0.372;0.206	T	0.06752	-1.0809	10	0.09338	T	0.73	-18.3096	18.9627	0.92682	0.0:0.0:1.0:0.0	.	1165;1165	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	E	1165	ENSP00000025008:A1165E;ENSP00000396067:A1165E;ENSP00000445960:A1165E	ENSP00000025008:A1165E	A	-	2	0	RB1CC1	53731448	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.795000	0.55499	2.556000	0.86216	0.650000	0.86243	GCA	RB1CC1	-	NULL	ENSG00000023287		0.279	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1		0	41	0	G	NM_014781		53568895	-1			no_errors	ENST00000025008	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	53568895	G	T	53568895	3	4	67	1	0	0	0	0	1	0	0	0	13144	1319	46	3	1330	3	RB1CC1	8	53568895	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	1335498	53568895	92795127	143	18318											
OPRK1	4986	genome.wustl.edu	37	chr8	54147611	54147611	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatggttgtagtaactaaAgcatctgccaaagccaggtt	12	10	11	8	0	1	0	0	0	1	0	1	0	1	0	2	3	4	6	2	3	5	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:54147611A>C	ENST00000265572.3	-	3	615	c.318T>G	c.(316-318)gcT>gcG	p.A106A	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.A106A|OPRK1_ENST00000524278.1_Silent_p.A17A	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	106					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TAGTAACTAAAGCATCTGCCA	0.378																																																	0													169	167	168					8																	54147611		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"GPCR / Class A : Opioid receptors"	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.318T>G	8.37:g.54147611A>C			E5RHC9|Q499G4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.A106	ENST00000265572.3	37	c.318	CCDS6152.1	8																																																																																			OPRK1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000082556		0.378	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRK1	HGNC	protein_coding	OTTHUMT00000378048.1	-	0	31	0	A			54147611	-1	tier1	-	no_errors	ENST00000265572	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.010	C	C	54147611	A	C	54147611	2	2	67	1	0	0	0	0	0	0	0	1	10924	59	3	4		4	OPRK1	8	54147611	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	578716	54147611	92216411	144	18319											
ATP6V1H	51606	genome.wustl.edu	37	chr8	54742095	54742096	+	Splice_Site	INS	-	-	A																															tataaatgttttagcacactINSaaaaaaaaaaatgaaattaa																								rs373096406		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:54742095_54742096insA	ENST00000359530.2	-	4	480		c.e4-2		ATP6V1H_ENST00000355221.3_Splice_Site|ATP6V1H_ENST00000520188.1_Splice_Site|ATP6V1H_ENST00000396774.2_Splice_Site	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H						ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.?(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TTTAGCACACTAAAAAAAAAAA	0.292																																																	1	Unknown(1)	ovary(1)																																								SO:0001630	splice_region_variant	0			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"ATPases / V-type"	18303	protein-coding gene	gene with protein product	"vacuolar ATP synthase subunit H"	608861	"ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.217-2->T	8.37:g.54742106_54742106dupA			B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Splice_Site	INS	-	e3-2	ENST00000359530.2	37	c.217-3_217-2	CCDS6153.1	8																																																																																			ATP6V1H	-	-	ENSG00000047249		0.292	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1H	HGNC	protein_coding	OTTHUMT00000377865.1		0	30	0	-	NM_015941	Intron	54742096	-1	tier1		no_errors	ENST00000359530	ensembl	human	known	74_37	splice_site_ins	12.00	22	3	INS	0.998:0.112	A	A	54742096	-	A	54742095	8	5	67	1	0	1	1	0	0	0	1	0	1190	1536	53	0	1280	0	ATP6V1H	8	54742095	Splice_Site	INS	-	TCGA-L5-A4OT-01A-11D-A28B-09	594484	54742095	91621927	145	18320											
TTPA	7274	genome.wustl.edu	37	chr8	63976810	63976810	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtttgatcatggaaaaGacagcatggaaaattactgg	16	10	11	4	0	1	2	1	1	0	1	1	4	1	4	0	4	2	2	0	4	6	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:63976810G>T	ENST00000260116.4	-	4	649	c.618C>A	c.(616-618)gtC>gtA	p.V206V	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	206	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TCATGGAAAAGACAGCATGGA	0.323																																																	0													85	84	84					8																	63976810		2203	4300	6503	SO:0001819	synonymous_variant	0			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.618C>A	8.37:g.63976810G>T			Q71V64	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.V206	ENST00000260116.4	37	c.618	CCDS6178.1	8																																																																																			TTPA	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000137561		0.323	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	-	0	43	0	G	NM_000370		63976810	-1	tier1	-	no_errors	ENST00000260116	ensembl	human	known	74_37	silent	14.29	36	6	SNP	1.000	T	T	63976810	G	T	63976810	2	4	67	1	0	0	0	0	0	0	0	1	16785	929	33	3		3	TTPA	8	63976810	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	9234715	63976810	82387212	146	18321											
PREX2	80243	genome.wustl.edu	37	chr8	69020466	69020466	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaatgtgatggaagtttcTtatcccaaaacatcaacctc	13	12	6	10	0	3	1	2	1	1	0	5	2	4	2	2	1	2	1	2	1	6	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:69020466T>G	ENST00000288368.4	+	24	3115	c.2838T>G	c.(2836-2838)tcT>tcG	p.S946S		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	946					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGAAGTTTCTTATCCCAAAA	0.433																																																	0													125	112	116					8																	69020466		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2838T>G	8.37:g.69020466T>G			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S946	ENST00000288368.4	37	c.2838	CCDS6201.1	8																																																																																			PREX2	-	NULL	ENSG00000046889		0.433	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	107	0	T	NM_025170		69020466	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	27.87	88	34	SNP	0.991	G	G	69020466	T	G	69020466	2	3	67	1	0	0	0	0	0	0	0	1	12519	1596	56	4		4	PREX2	8	69020466	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	5043656	69020466	77343556	147	18322											
RIMS2	9699	genome.wustl.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	15	6	10	10	0	2	0	1	0	1	0	2	3	2	2	2	3	1	3	2	3	4	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:104898096T>G	ENST00000436393.2	+	2	844	c.603T>G	c.(601-603)tcT>tcG	p.S201S	RIMS2_ENST00000507740.1_Silent_p.S231S|RIMS2_ENST00000262231.10_Silent_p.S231S|RIMS2_ENST00000406091.3_Silent_p.S423S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S231S(3)|p.S459S(2)|p.S201S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)																																							7	Substitution - coding silent(7)	large_intestine(7)											85	80	81					8																	104898096		1935	4137	6072	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.603T>G	8.37:g.104898096T>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S423	ENST00000436393.2	37	c.1269		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.478	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	27	0	T	NM_001100117		104898096	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.998	G	G	104898096	T	G	104898096	2	3	67	1	0	0	0	0	0	0	0	1	13413	1596	56	4		4	RIMS2	8	104898096	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	35877630	104898096	41465926	148	18323											
RIMS2	9699	genome.wustl.edu	37	chr8	104924382	104924382	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtacctcgagattcaggAgcaatgcttggcttgaaggt	10	11	13	7	1	1	2	1	1	0	1	2	4	1	3	1	3	3	4	1	3	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:104924382A>T	ENST00000436393.2	+	4	1369	c.1128A>T	c.(1126-1128)ggA>ggT	p.G376G	RIMS2_ENST00000507740.1_Silent_p.G406G|RIMS2_ENST00000262231.10_Silent_p.G453G|RIMS2_ENST00000406091.3_Silent_p.G598G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	676					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGATTCAGGAGCAATGCTTG	0.373										HNSCC(12;0.0054)																																							0													108	106	106					8																	104924382		1849	4093	5942	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1128A>T	8.37:g.104924382A>T			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.G598	ENST00000436393.2	37	c.1794		8																																																																																			RIMS2	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000176406		0.373	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	28	0	A	NM_001100117		104924382	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	15.00	34	6	SNP	1.000	T	T	104924382	A	T	104924382	2	4	67	1	0	0	0	0	0	0	0	1	13413	291	11	5		5	RIMS2	8	104924382	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	26286	104924382	41439640	149	18324											
LRP12	29967	genome.wustl.edu	37	chr8	105503755	105503755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taccgctagcctcagattttCcaaaacagaagcctacaaaa	16	8	5	12	1	1	2	1	0	0	2	2	2	2	2	4	0	5	1	4	0	8	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:105503755C>T	ENST00000276654.5	-	7	1834	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.E557K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	576					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCAGATTTTCCAAAACAGAA	0.343																																																	0													41	44	43					8																	105503755		2202	4300	6502	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1726G>A	8.37:g.105503755C>T	ENSP00000276654:p.Glu576Lys		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.E557K	ENST00000276654.5	37	c.1669	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940688	0.92526	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.93488	-1.83;-1.76;-3.23	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93582	0.7951	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	D	0.93517	0.6858	10	0.39692	T	0.17	-31.5759	20.0966	0.97849	0.0:1.0:0.0:0.0	.	557;576	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	557;576;165	ENSP00000399148:E557K;ENSP00000276654:E576K;ENSP00000429305:E165K	ENSP00000276654:E576K	E	-	1	0	LRP12	105572931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.263000	0.78421	2.751000	0.94390	0.650000	0.86243	GAA	LRP12	-	NULL	ENSG00000147650		0.343	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	12	0	C	NM_013437		105503755	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	64.29	5	9	SNP	1.000	T	T	105503755	C	T	105503755	3	4	67	1	0	0	0	0	1	0	0	0	8989	864	30	3	857	3	LRP12	8	105503755	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	579373	105503755	40860267	150	18325											
LRP12	29967	genome.wustl.edu	37	chr8	105509626	105509626	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcagtataacacccccagTtacctccacagggtatttcc	10	10	6	15	0	1	0	1	0	0	0	3	0	3	0	5	1	2	4	5	1	4	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:105509626T>G	ENST00000276654.5	-	5	1262	c.1154A>C	c.(1153-1155)aAc>aCc	p.N385T	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.N366T	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	385	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACACCCCCAGTTACCTCCACA	0.443																																																	0													110	107	108					8																	105509626		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1154A>C	8.37:g.105509626T>G	ENSP00000276654:p.Asn385Thr		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.N366T	ENST00000276654.5	37	c.1097	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	T	19.48	3.835347	0.71373	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	T;T	0.60299	0.2;0.2	5.66	5.66	0.87406	.	0.082516	0.85682	D	0.000000	T	0.61739	0.2371	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	T	0.67321	-0.5700	10	0.54805	T	0.06	-23.4068	15.8985	0.79353	0.0:0.0:0.0:1.0	.	366;385	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	T	366;385	ENSP00000399148:N366T;ENSP00000276654:N385T	ENSP00000276654:N385T	N	-	2	0	LRP12	105578802	1.000000	0.71417	0.995000	0.50966	0.869000	0.49853	7.665000	0.83852	2.169000	0.68431	0.374000	0.22700	AAC	LRP12	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000147650		0.443	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	32	0	T	NM_013437		105509626	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	G	G	105509626	T	G	105509626	3	3	67	1	0	0	0	0	1	0	0	0	8989	1725	60	4	1437	4	LRP12	8	105509626	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	5871	105509626	40854396	151	18326											
SLC30A8	169026	genome.wustl.edu	37	chr8	118174052	118174052	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatgccagcgtcagagcTgcttttgtgcatgcccttgg	6	11	12	12	1	1	1	1	0	0	1	1	1	1	1	3	1	6	3	3	1	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:118174052T>C	ENST00000456015.2	+	5	648	c.648T>C	c.(646-648)gcT>gcC	p.A216A	RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000519688.1_Silent_p.A167A|SLC30A8_ENST00000427715.2_Silent_p.A167A|SLC30A8_ENST00000521243.1_Silent_p.A167A	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	216					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GCGTCAGAGCTGCTTTTGTGC	0.433																																					Ovarian(162;1202 1922 6011 16223 52092)												0													206	169	182					8																	118174052		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.648T>C	8.37:g.118174052T>C			A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A216	ENST00000456015.2	37	c.648	CCDS6322.1	8																																																																																			SLC30A8	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000164756		0.433	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1	-	0	92	0	T	NM_173851		118174052	1	tier1	-	no_errors	ENST00000456015	ensembl	human	known	74_37	silent	13.45	103	16	SNP	0.902	C	C	118174052	T	C	118174052	2	2	67	1	0	0	0	0	0	0	0	1	14606	1567	55	4		4	SLC30A8	8	118174052	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	12664426	118174052	28189970	152	18327											
COL14A1	7373	genome.wustl.edu	37	chr8	121238870	121238870	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctcggtttacagaggaAgttccagcccagcaatactt	10	11	8	12	1	0	1	0	0	0	1	3	2	2	2	3	2	4	3	3	2	4	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr8:121238870A>C	ENST00000297848.3	+	16	2139	c.1869A>C	c.(1867-1869)gaA>gaC	p.E623D	COL14A1_ENST00000309791.4_Missense_Mutation_p.E623D|COL14A1_ENST00000247781.3_Missense_Mutation_p.E528D|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTACAGAGGAAGTTCCAGCCC	0.468																																																	0													76	71	73					8																	121238870		2203	4300	6503	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1869A>C	8.37:g.121238870A>C	ENSP00000297848:p.Glu623Asp			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.E623D	ENST00000297848.3	37	c.1869	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	A	10.04	1.241705	0.22711	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.63	3.18	0.36537	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.656387	0.16113	N	0.228974	T	0.24774	0.0601	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.03673	-1.1014	10	0.27082	T	0.32	.	7.6698	0.28453	0.7311:0.1941:0.0748:0.0	.	623;623	Q05707-2;Q05707	.;COEA1_HUMAN	D	623;623;528;436	ENSP00000311809:E623D;ENSP00000297848:E623D;ENSP00000247781:E528D;ENSP00000409461:E436D	ENSP00000247781:E528D	E	+	3	2	COL14A1	121308051	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.687000	0.25407	0.393000	0.25203	0.455000	0.32223	GAA	COL14A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.468	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	40	0	A	NM_021110		121238870	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	C	C	121238870	A	C	121238870	3	2	67	1	0	0	0	0	1	0	0	0	3678	69	3	4	1927	4	COL14A1	8	121238870	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3064818	121238870	25125152	153	18328											
FREM1	158326	genome.wustl.edu	37	chr9	14857575	14857575	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacacaattttgctcctggtAtctgtgaggtccagttggat	8	15	10	8	0	1	1	0	1	1	0	3	2	3	2	2	3	2	3	2	3	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr9:14857575A>G	ENST00000380880.3	-	5	1587	c.804T>C	c.(802-804)gaT>gaC	p.D268D	FREM1_ENST00000422223.2_Silent_p.D268D|FREM1_ENST00000380881.4_Silent_p.D268D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	268					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCTCCTGGTATCTGTGAGGT	0.493																																																	0													182	174	177					9																	14857575		1913	4131	6044	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.804T>C	9.37:g.14857575A>G			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.D268	ENST00000380880.3	37	c.804	CCDS47952.1	9																																																																																			FREM1	-	NULL	ENSG00000164946		0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	78	0	A	NM_144966		14857575	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	silent	32.94	57	28	SNP	0.953	G	G	14857575	A	G	14857575	2	3	67	1	0	0	0	0	0	0	0	1	6068	446	16	4		4	FREM1	9	14857575	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		14857575	126355856	154	18329											
ASTN2	23245	genome.wustl.edu	37	chr9	119738455	119738455	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcccctctcaagtgtcgtGtagggccaaggtctatggga	8	10	13	10	1	2	0	1	0	2	0	4	1	2	1	3	3	1	1	3	3	5	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr9:119738455G>T	ENST00000313400.4	-	9	1789	c.1689C>A	c.(1687-1689)taC>taA	p.Y563*	ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Y512*|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Y563*			O75129	ASTN2_HUMAN	astrotactin 2	563					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAAGTGTCGTGTAGGGCCAAG	0.493																																																	0													84	77	79					9																	119738455		2203	4300	6503	SO:0001587	stop_gained	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1689C>A	9.37:g.119738455G>T	ENSP00000314038:p.Tyr563*		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Nonsense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.Y563*	ENST00000313400.4	37	c.1689		9	.	.	.	.	.	.	.	.	.	.	G	38	6.866407	0.97897	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	.	.	.	5.64	1.73	0.24493	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.7238	9.3025	0.37853	0.4283:0.0:0.5717:0.0	.	.	.	.	X	563;563;290;512	.	.	Y	-	3	2	ASTN2	118778276	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	0.595000	0.24029	0.333000	0.23563	-0.136000	0.14681	TAC	ASTN2	-	NULL	ENSG00000148219		0.493	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	20	0	G	NM_014010		119738455	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	nonsense	28.57	25	10	SNP	1.000	T	T	119738455	G	T	119738455	4	4	67	1	0	0	0	0	0	1	0	0	1066	1372	48	3	2622	3	ASTN2	9	119738455	Nonsense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	104880880	119738455	21474976	155	18330											
CEP110	11064	genome.wustl.edu	37	chr9	123929934	123929934	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagattgaagaaaacaagctCaaactagtccaacaagaaat	21	6	7	7	0	1	4	1	1	0	3	2	5	2	4	1	0	4	1	1	0	9	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr9:123929934C>T	ENST00000373855.1	+	37	6083	c.5823C>T	c.(5821-5823)ctC>ctT	p.L1941L	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Silent_p.L1389L|CNTRL_ENST00000238341.5_Silent_p.L1941L			Q7Z7A1	CNTRL_HUMAN	centriolin	1941					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAAACAAGCTCAAACTAGTCC	0.373																																																	0													62	58	59					9																	123929934		2203	4300	6503	SO:0001819	synonymous_variant	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"centrosomal protein 1", "centrosomal protein 110kDa"	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5823C>T	9.37:g.123929934C>T			A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.L1941	ENST00000373855.1	37	c.5823	CCDS35118.1	9																																																																																			CNTRL	-	NULL	ENSG00000119397		0.373	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1		0	33	0	C	NM_007018		123929934	1			no_errors	ENST00000238341	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.000	T	T	123929934	C	T	123929934	2	4	67	1	0	0	0	0	0	0	0	1	3252	813	29	3		3	CEP110	9	123929934	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	4191479	123929934	17283497	156	18331											
KCNT1	57582	genome.wustl.edu	37	chr9	138656941	138656941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaactacagccgccaccGtgcgcagacggagaagcacg	11	2	14	14	5	0	2	0	0	0	2	0	3	0	2	3	2	5	3	3	2	3	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr9:138656941G>A	ENST00000263604.3	+	12	1043	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H	KCNT1_ENST00000490355.2_Missense_Mutation_p.R348H|KCNT1_ENST00000491806.2_Missense_Mutation_p.R334H|KCNT1_ENST00000487664.1_Missense_Mutation_p.R322H|KCNT1_ENST00000298480.5_Missense_Mutation_p.R367H|KCNT1_ENST00000371757.2_Missense_Mutation_p.R367H|KCNT1_ENST00000488444.2_Missense_Mutation_p.R348H|KCNT1_ENST00000486577.2_Missense_Mutation_p.R328H			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	348					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGCCGCCACCGTGCGCAGACG	0.612																																																	0													156	136	142					9																	138656941		2202	4299	6501	SO:0001583	missense	0			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1043G>A	9.37:g.138656941G>A	ENSP00000263604:p.Arg348His		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.R367H	ENST00000263604.3	37	c.1100		9	.	.	.	.	.	.	.	.	.	.	G	19.71	3.879246	0.72294	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.35	4.35	0.52113	.	0.000000	0.64402	U	0.000002	T	0.40909	0.1136	M	0.68952	2.095	0.80722	D	1	P;D;P;P	0.56746	0.809;0.977;0.609;0.562	B;P;B;B	0.52343	0.248;0.696;0.333;0.119	T	0.44982	-0.9292	10	0.72032	D	0.01	-32.9882	16.0187	0.80464	0.0:0.0:1.0:0.0	.	334;367;322;348	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	H	322;367;367;328;334;348;348;348	ENSP00000417851:R322H;ENSP00000298480:R367H;ENSP00000360822:R367H;ENSP00000263604:R348H	ENSP00000263604:R348H	R	+	2	0	KCNT1	137796762	1.000000	0.71417	0.997000	0.53966	0.833000	0.47200	9.285000	0.95894	2.241000	0.73720	0.462000	0.41574	CGT	KCNT1	-	NULL	ENSG00000107147		0.612	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		-	0	35	0	G	NM_020822		138656941	1	tier1	-	no_errors	ENST00000298480	ensembl	human	known	74_37	missense	15.38	33	6	SNP	1.000	A	A	138656941	G	A	138656941	3	1	67	1	0	0	0	0	1	0	0	0	8118	1145	40	1	1146	1	KCNT1	9	138656941	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	14727007	138656941	2556490	157	18332											
CUBN	8029	genome.wustl.edu	37	chr10	16970293	16970293	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctagctgctgggccaagTtattatctcctacgttgaaa	9	13	9	10	1	1	1	0	1	1	0	2	1	1	1	2	1	4	5	2	1	6	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:16970293T>G	ENST00000377833.4	-	41	6199	c.6134A>C	c.(6133-6135)aAc>aCc	p.N2045T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2045	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGGGCCAAGTTATTATCTCC	0.468																																																	0													58	55	56					10																	16970293		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6134A>C	10.37:g.16970293T>G	ENSP00000367064:p.Asn2045Thr		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.N2045T	ENST00000377833.4	37	c.6134	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	7.897	0.733542	0.15574	.	.	ENSG00000107611	ENST00000377833	T	0.17854	2.25	5.7	-1.02	0.10135	CUB (5);	0.899723	0.09233	N	0.830339	T	0.08537	0.0212	L	0.27053	0.805	0.09310	N	1	P	0.35468	0.503	B	0.31101	0.124	T	0.35968	-0.9767	10	0.12430	T	0.62	.	5.5778	0.17233	0.2179:0.3852:0.0:0.3969	.	2045	O60494	CUBN_HUMAN	T	2045	ENSP00000367064:N2045T	ENSP00000367064:N2045T	N	-	2	0	CUBN	17010299	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.008000	0.13197	-0.420000	0.07427	0.528000	0.53228	AAC	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.468	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0	22	0	T	NM_001081		16970293	-1			no_errors	ENST00000377833	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.000	G	G	16970293	T	G	16970293	3	3	67	1	0	0	0	0	1	0	0	0	4060	1725	60	4	4845	4	CUBN	10	16970293	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09		16970293	118564454	158	18333											
VIM	7431	genome.wustl.edu	37	chr10	17277328	17277328	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagacctgctcaatgttaAgatggcccttgacattgaga	12	10	9	10	0	1	4	1	2	0	3	1	5	1	4	3	1	1	2	3	1	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:17277328A>C	ENST00000224237.5	+	6	1314	c.1169A>C	c.(1168-1170)aAg>aCg	p.K390T	VIM_ENST00000544301.1_Missense_Mutation_p.K390T|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin	390	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAATGTTAAGATGGCCCTT	0.498																																																	0													138	125	129					10																	17277328		2203	4300	6503	SO:0001583	missense	0			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"Intermediate filaments type III"	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1169A>C	10.37:g.17277328A>C	ENSP00000224237:p.Lys390Thr		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.K390T	ENST00000224237.5	37	c.1169	CCDS7120.1	10	.	.	.	.	.	.	.	.	.	.	A	31	5.095577	0.94197	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.94862	-3.54;-3.54	5.87	5.87	0.94306	Filament (1);	0.420938	0.19650	N	0.109243	D	0.98485	0.9495	H	0.98314	4.2	0.80722	D	1	D;D;D;D	0.67145	0.986;0.996;0.996;0.986	D;D;D;D	0.74348	0.961;0.961;0.983;0.961	D	0.99851	1.1072	10	0.87932	D	0	.	16.3222	0.82954	1.0:0.0:0.0:0.0	.	390;377;390;390	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	T	390;390;377	ENSP00000446007:K390T;ENSP00000224237:K390T	ENSP00000224237:K390T	K	+	2	0	VIM	17317334	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.331000	0.96430	2.246000	0.74042	0.519000	0.50382	AAG	VIM	-	pfam_IF	ENSG00000026025		0.498	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	-	0	49	0	A	NM_003380		17277328	1	tier1	-	no_errors	ENST00000224237	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	C	C	17277328	A	C	17277328	3	2	67	1	0	0	0	0	1	0	0	0	17215	72	3	4	1191	4	VIM	10	17277328	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	307035	17277328	118257419	159	18334											
RET	5979	genome.wustl.edu	37	chr10	43608346	43608346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccagcaccaagacctGccccgacggccactgcgatg	8	5	9	19	3	1	1	0	0	1	1	2	3	1	1	6	1	3	1	6	1	1	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:43608346G>T	ENST00000355710.3	+	9	1926	c.1694G>T	c.(1693-1695)tGc>tTc	p.C565F	RET_ENST00000340058.5_Missense_Mutation_p.C565F	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	565					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACCAAGACCTGCCCCGACGGC	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													107	79	88					10																	43608346		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1694G>T	10.37:g.43608346G>T	ENSP00000347942:p.Cys565Phe		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.C565F	ENST00000355710.3	37	c.1694	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558497	0.65538	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	D;D;D	0.99841	-3.23;-7.09;-3.03	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.99802	0.9915	M	0.85859	2.78	0.80722	D	1	P;D;D	0.65815	0.956;0.991;0.995	P;P;P	0.62014	0.643;0.87;0.897	D	0.97054	0.9766	10	0.87932	D	0	.	18.8569	0.92255	0.0:0.0:1.0:0.0	.	311;565;565	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	F	565;82;565	ENSP00000347942:C565F;ENSP00000419080:C82F;ENSP00000344798:C565F	ENSP00000344798:C565F	C	+	2	0	RET	42928352	1.000000	0.71417	0.998000	0.56505	0.337000	0.28794	9.187000	0.94912	2.460000	0.83146	0.462000	0.41574	TGC	RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	-	0	44	0	G	NM_020975		43608346	1	tier1	-	no_errors	ENST00000355710	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	T	T	43608346	G	T	43608346	3	4	67	1	0	0	0	0	1	0	0	0	13280	1319	46	3	1728	3	RET	10	43608346	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	26331018	43608346	91926401	160	18335											
AGAP7	653268	genome.wustl.edu	37	chr10	51465248	51465248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccgctcctcatatgtcGtggcttcaaagtgccacgtt	7	12	8	14	3	2	0	2	0	0	0	5	0	4	0	3	1	1	3	3	1	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:51465248G>A	ENST00000374095.5	-	7	1333	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		403	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTCATATGTCGTGGCTTCAAA	0.512																																																	0													18	24	22					10																	51465248		2154	4215	6369	SO:0001583	missense	0																														ENST00000374095.5:c.1208C>T	10.37:g.51465248G>A	ENSP00000363208:p.Thr403Met		A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.T403M	ENST00000374095.5	37	c.1208	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	8.561	0.877698	0.17395	.	.	ENSG00000204169	ENST00000374095	T	0.76448	-1.02	.	.	.	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.168254	0.51477	N	0.000092	T	0.65059	0.2655	L	0.50333	1.59	0.25821	N	0.984282	B	0.21821	0.061	B	0.26202	0.067	T	0.51647	-0.8679	9	0.51188	T	0.08	.	4.7132	0.12882	0.3524:0.0:0.6476:0.0	.	403	Q5VUJ5	AGAP7_HUMAN	M	403	ENSP00000363208:T403M	ENSP00000363208:T403M	T	-	2	0	AGAP7	51135254	0.009000	0.17119	0.189000	0.23252	0.192000	0.23643	1.586000	0.36611	-1.498000	0.01824	-1.514000	0.00941	ACG	AGAP7	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000204169		0.512	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	-	0	245	0	G			51465248	-1	tier1	-	no_errors	ENST00000374095	ensembl	human	known	74_37	missense	14.21	169	28	SNP	0.504	A	A	51465248	G	A	51465248	3	1	67	1	0	0	0	0	1	0	0	0	373	1145	40	1	787	1	AGAP7	10	51465248	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	7856902	51465248	84069499	161	18336											
ZMYND17	118490	genome.wustl.edu	37	chr10	75185808	75185808	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagtcccctgggcgagtaAgaaatgtctccacatgggaa	12	8	11	10	1	1	1	0	0	1	1	3	3	2	2	3	2	0	1	3	2	4	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:75185808A>C	ENST00000372912.1	-	4	832	c.830T>G	c.(829-831)cTt>cGt	p.L277R	MSS51_ENST00000299432.2_Missense_Mutation_p.L277R|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	277					social behavior (GO:0035176)		metal ion binding (GO:0046872)										TGGGCGAGTAAGAAATGTCTC	0.522																																																	0													80	77	78					10																	75185808		2203	4300	6503	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.830T>G	10.37:g.75185808A>C	ENSP00000362003:p.Leu277Arg		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.L277R	ENST00000372912.1	37	c.830	CCDS31221.1	10	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493554	0.64186	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.49720	0.77;0.77	5.45	5.45	0.79879	.	0.338684	0.31210	N	0.008047	T	0.38348	0.1037	L	0.51422	1.61	0.30959	N	0.723863	P	0.46395	0.877	B	0.38562	0.276	T	0.52290	-0.8595	9	.	.	.	-14.1453	8.7897	0.34843	0.8324:0.0:0.0:0.1676	.	277	Q4VC12	ZMY17_HUMAN	R	277	ENSP00000299432:L277R;ENSP00000362003:L277R	.	L	-	2	0	ZMYND17	74855814	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.280000	0.51677	2.288000	0.76882	0.528000	0.53228	CTT	MSS51	-	NULL	ENSG00000166343		0.522	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MSS51	HGNC	protein_coding	OTTHUMT00000048652.3	-	0	40	0	A	NM_178451		75185808	-1	tier1	-	no_errors	ENST00000299432	ensembl	human	known	74_37	missense	58.82	7	10	SNP	0.925	C	C	75185808	A	C	75185808	3	2	67	1	0	0	0	0	1	0	0	0	17757	72	3	4	564	4	ZMYND17	10	75185808	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	23720560	75185808	60348939	162	18337											
KCNMA1	3778	genome.wustl.edu	37	chr10	78771794	78771794	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacaggccttgcagtaaaAaaatgccctggagaaagaga	17	6	11	7	0	0	3	0	1	0	2	0	5	0	3	2	2	2	2	2	2	5	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:78771794A>C	ENST00000286628.8	-	18	2022	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	KCNMA1_ENST00000286627.5_Missense_Mutation_p.F675V|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000404857.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F675V|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F679V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F675V	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	675					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TTGCAGTAAAAAAATGCCCTG	0.433																																																	0													113	110	111					10																	78771794		2203	4300	6503	SO:0001583	missense	0			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6284	protein-coding gene	gene with protein product	"BK channel alpha subunit"	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2023T>G	10.37:g.78771794A>C	ENSP00000286628:p.Phe675Val		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl	p.F679V	ENST00000286628.8	37	c.2035		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	17.34|17.34|17.34	3.365667|3.365667|3.365667	0.61513|0.61513|0.61513	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208;ENST00000450795|ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	T|D|D;D;D;D;D;D;D;D;D	0.19669|0.83914|0.85013	2.13|-1.78|-1.84;-1.83;-1.88;-1.91;-1.87;-1.84;-1.92;-1.93;-1.89	5.69|5.69|5.69	5.69|5.69|5.69	0.88448|0.88448|0.88448	.|.|.	0.049908|0.049908|0.049908	0.85682|0.85682|0.85682	D|D|D	0.000000|0.000000|0.000000	D|D|D	0.83885|0.83885|0.83885	0.5351|0.5351|0.5351	L|L|L	0.48642|0.48642|0.48642	1.525|1.525|1.525	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B;B;B;B;B;B;B	.|.|0.32302	.|.|0.001;0.017;0.03;0.004;0.017;0.026;0.363;0.004	.|.|B;B;B;B;B;B;B;B	.|.|0.37989	.|.|0.012;0.134;0.262;0.024;0.059;0.168;0.262;0.027	D|D|D	0.83708|0.83708|0.83708	0.0186|0.0186|0.0186	8|8|10	0.72032|0.26408|0.56958	D|T|D	0.01|0.33|0.05	-11.0932|-11.0932|-11.0932	15.9394|15.9394|15.9394	0.79743|0.79743|0.79743	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|675;675;675;675;675;457;675;675	.|.|Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7	.|.|.;.;.;KCMA1_HUMAN;.;.;.;.	C|L|V	663;353;167|625|675;612;610;649;612;675;675;649;679;675;675;457	ENSP00000402150:F353C|ENSP00000361480:F625L|ENSP00000361517:F675V;ENSP00000361485:F612V;ENSP00000361514:F610V;ENSP00000396608:F649V;ENSP00000361520:F675V;ENSP00000286627:F675V;ENSP00000385552:F679V;ENSP00000346321:F675V;ENSP00000385806:F675V	ENSP00000361498:F663C|ENSP00000361480:F625L|ENSP00000286627:F675V	F|F|F	-|-|-	2|3|1	0|2|0	KCNMA1|KCNMA1|KCNMA1	78441800|78441800|78441800	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.339000|9.339000|9.339000	0.96797|0.96797|0.96797	2.162000|2.162000|2.162000	0.67917|0.67917|0.67917	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|TTT|TTT	KCNMA1	-	NULL	ENSG00000156113		0.433	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	KCNMA1	HGNC	protein_coding	OTTHUMT00000048885.3	-	0	27	0	A	NM_002247		78771794	-1	tier1	-	no_errors	ENST00000406533	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	C	C	78771794	A	C	78771794	3	2	67	1	0	0	0	0	1	0	0	0	8100	14	1	4	1887	4	KCNMA1	10	78771794	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3585986	78771794	56762953	163	18338											
NRG3	10718	genome.wustl.edu	37	chr10	84745121	84745121	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgagtattccagtcagCgattgtcttatagcagaaca	13	12	9	7	1	2	2	1	1	1	1	3	3	3	2	1	0	3	2	1	0	5	5	rs148300013		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:84745121C>T	ENST00000404547.1	+	10	1923	c.1923C>T	c.(1921-1923)agC>agT	p.S641S	NRG3_ENST00000556918.1_Silent_p.S447S|NRG3_ENST00000372141.2_Silent_p.S617S|NRG3_ENST00000537893.1_Silent_p.S267S|NRG3_ENST00000404576.2_Silent_p.S421S|NRG3_ENST00000545131.1_Silent_p.S267S|NRG3_ENST00000372142.2_Silent_p.S420S			P56975	NRG3_HUMAN	neuregulin 3	641					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S617R(1)|p.S420R(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTCCAGTCAGCGATTGTCTTA	0.433																																																	2	Substitution - Missense(2)	large_intestine(2)						C	,,	1,4405	2.1+/-5.4	0,1,2202	82	80	81		1851,1848,1260	3	1	10	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NRG3	NM_001010848.3,NM_001165972.1,NM_001165973.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	617/697,616/696,420/500	84745121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1923C>T	10.37:g.84745121C>T			A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	pfscan_EG-like_dom	p.S641	ENST00000404547.1	37	c.1923	CCDS31233.1	10																																																																																			NRG3	-	NULL	ENSG00000185737		0.433	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1		0	27	0	C	XM_166086		84745121	1			no_errors	ENST00000404547	ensembl	human	known	74_37	silent	10.00	18	2	SNP	1.000	T	T	84745121	C	T	84745121	2	4	67	1	0	0	0	0	0	0	0	1	10688	767	27	1		1	NRG3	10	84745121	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	5973327	84745121	50789626	164	18339											
HHEX	3087	genome.wustl.edu	37	chr10	94454489	94454489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgatcaggaagtggaCattgagggcgataaaagcta	14	9	13	5	1	2	2	1	2	1	0	2	6	2	4	0	3	1	1	0	3	4	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:94454489C>T	ENST00000282728.5	+	4	2576	c.777C>T	c.(775-777)gaC>gaT	p.D259D	HHEX_ENST00000472590.2_Silent_p.D87D|HHEX_ENST00000492654.2_Silent_p.D87D	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	259					anterior/posterior pattern specification (GO:0009952)|B cell differentiation (GO:0030183)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|DNA conformation change (GO:0071103)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|forebrain morphogenesis (GO:0048853)|gall bladder development (GO:0061010)|hepatic duct development (GO:0061011)|hepatoblast differentiation (GO:0061017)|hepatocyte differentiation (GO:0070365)|in utero embryonic development (GO:0001701)|interkinetic nuclear migration (GO:0022027)|mRNA export from nucleus (GO:0006406)|multicellular organism growth (GO:0035264)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|pancreas development (GO:0031016)|poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|primary lung bud formation (GO:0060431)|primitive streak formation (GO:0090009)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|response to peptide hormone (GO:0043434)|response to wounding (GO:0009611)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|eukaryotic initiation factor 4E binding (GO:0008190)|protein homodimerization activity (GO:0042803)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						AGGAAGTGGACATTGAGGGCG	0.428																																																	0													80	80	80					10																	94454489		2203	4300	6503	SO:0001819	synonymous_variant	0			Z21533	CCDS7423.1	10q23.33	2011-06-20	2007-02-15		ENSG00000152804	ENSG00000152804		"Homeoboxes / ANTP class : NKL subclass"	4901	protein-coding gene	gene with protein product		604420		PRHX		8096636, 8103988	Standard	NM_002729		Approved	HEX, HOX11L-PEN	uc001kid.3	Q03014	OTTHUMG00000018762	ENST00000282728.5:c.777C>T	10.37:g.94454489C>T			B1AQ17|Q96CE9	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.D259	ENST00000282728.5	37	c.777	CCDS7423.1	10																																																																																			HHEX	-	NULL	ENSG00000152804		0.428	HHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHEX	HGNC	protein_coding	OTTHUMT00000049402.2		0	44	0	C			94454489	1			no_errors	ENST00000282728	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	T	T	94454489	C	T	94454489	2	4	67	1	0	0	0	0	0	0	0	1	7118	477	17	3		3	HHEX	10	94454489	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	9709368	94454489	41080258	165	18340											
SEC31B	25956	genome.wustl.edu	37	chr10	102255158	102255158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctggtgagaaggctggGatcccaatctgtaagatgat	11	11	12	7	0	1	3	0	2	1	2	2	5	2	4	2	3	1	2	2	3	4	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:102255158G>T	ENST00000370345.3	-	19	2553	c.2456C>A	c.(2455-2457)tCc>tAc	p.S819Y	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	819					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAAGGCTGGGATCCCAATCT	0.478																																																	0													64	56	59					10																	102255158		2203	4300	6503	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2456C>A	10.37:g.102255158G>T	ENSP00000359370:p.Ser819Tyr		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S819Y	ENST00000370345.3	37	c.2456	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155678	0.38021	.	.	ENSG00000075826	ENST00000370345	T	0.52057	0.68	5.94	1.24	0.21308	.	1.186920	0.05558	N	0.568684	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	P;B	0.36199	0.543;0.068	B;B	0.36378	0.223;0.025	T	0.14615	-1.0466	10	0.12766	T	0.61	0.0021	5.4179	0.16384	0.6211:0.1538:0.2251:0.0	.	818;819	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	Y	819	ENSP00000359370:S819Y	ENSP00000359370:S819Y	S	-	2	0	SEC31B	102245148	0.027000	0.19231	0.007000	0.13788	0.971000	0.66376	0.325000	0.19628	-0.011000	0.14247	0.561000	0.74099	TCC	SEC31B	-	NULL	ENSG00000075826		0.478	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1		0	35	0	G	NM_015490		102255158	-1			no_errors	ENST00000370345	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.004	T	T	102255158	G	T	102255158	3	4	67	1	0	0	0	0	1	0	0	0	14044	1174	41	3	1115	3	SEC31B	10	102255158	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	7800669	102255158	33279589	166	18341											
FAM178A	55719	genome.wustl.edu	37	chr10	102677018	102677018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggaacaaaggaaacaGaatgacatcatacctggaaa	20	4	10	7	0	1	2	1	1	0	1	1	5	1	5	1	4	3	1	1	4	6	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:102677018G>T	ENST00000238961.4	+	3	1418	c.876G>T	c.(874-876)caG>caT	p.Q292H	FAM178A_ENST00000370271.3_Missense_Mutation_p.Q292H|FAM178A_ENST00000370269.3_Missense_Mutation_p.Q292H	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	292						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.Q292Q(1)									AAAGGAAACAGAATGACATCA	0.318																																																	1	Substitution - coding silent(1)	lung(1)											51	56	54					10																	102677018		2203	4300	6503	SO:0001583	missense	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.876G>T	10.37:g.102677018G>T	ENSP00000238961:p.Gln292His		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.Q292H	ENST00000238961.4	37	c.876	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	G	2.117	-0.402420	0.04865	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.47177	0.85;1.48;1.47	5.18	1.16	0.20824	.	0.199195	0.29253	N	0.012698	T	0.21881	0.0527	N	0.12182	0.205	0.24589	N	0.993836	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.11329	0.003;0.003;0.006	T	0.08186	-1.0734	10	0.29301	T	0.29	-1.4154	2.0308	0.03529	0.1756:0.1613:0.5077:0.1554	.	292;292;292	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	H	292	ENSP00000359294:Q292H;ENSP00000238961:Q292H;ENSP00000359292:Q292H	ENSP00000238961:Q292H	Q	+	3	2	FAM178A	102667008	1.000000	0.71417	0.994000	0.49952	0.040000	0.13550	0.346000	0.19997	0.056000	0.16144	-0.198000	0.12761	CAG	FAM178A	-	NULL	ENSG00000119906		0.318	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3		0	32	0	G			102677018	1			no_errors	ENST00000370269	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.995	T	T	102677018	G	T	102677018	3	4	67	1	0	0	0	0	1	0	0	0	5522	933	33	3	886	3	FAM178A	10	102677018	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	421860	102677018	32857729	167	18342											
SORCS3	22986	genome.wustl.edu	37	chr10	106982910	106982910	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctccgagttccatttgTtgccataagaaataaggagg	12	12	9	8	1	2	1	1	0	1	1	4	3	3	2	3	2	1	2	3	2	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:106982910T>G	ENST00000369701.3	+	20	2998	c.2771T>G	c.(2770-2772)gTt>gGt	p.V924G	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	924					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTTCCATTTGTTGCCATAAGA	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)												0													161	153	156					10																	106982910		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2771T>G	10.37:g.106982910T>G	ENSP00000358715:p.Val924Gly		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V924G	ENST00000369701.3	37	c.2771	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408434	0.83340	.	.	ENSG00000156395	ENST00000369701	T	0.16897	2.31	5.06	5.06	0.68205	PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.48927	-0.8991	9	.	.	.	.	15.0972	0.72244	0.0:0.0:0.0:1.0	.	924	Q9UPU3	SORC3_HUMAN	G	924	ENSP00000358715:V924G	.	V	+	2	0	SORCS3	106972900	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.404000	0.79996	2.035000	0.60131	0.460000	0.39030	GTT	SORCS3	-	superfamily_PKD_dom	ENSG00000156395		0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	67	0	T	NM_014978		106982910	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	G	G	106982910	T	G	106982910	3	3	67	1	0	0	0	0	1	0	0	0	14977	1725	60	4	2849	4	SORCS3	10	106982910	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	4305892	106982910	28551837	168	18343											
ADD3	120	genome.wustl.edu	37	chr10	111879026	111879026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagtctcttcttctgggaGatgttgcctattatgactac	9	15	9	8	0	3	3	0	1	3	2	4	4	3	3	1	1	2	1	1	1	4	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:111879026G>A	ENST00000356080.4	+	7	1142	c.775G>A	c.(775-777)Gat>Aat	p.D259N	ADD3_ENST00000277900.8_Missense_Mutation_p.D259N|ADD3_ENST00000360162.3_Missense_Mutation_p.D259N	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	259						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TCTTCTGGGAGATGTTGCCTA	0.423																																																	0													87	82	84					10																	111879026		2203	4300	6503	SO:0001583	missense	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.775G>A	10.37:g.111879026G>A	ENSP00000348381:p.Asp259Asn		D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.D259N	ENST00000356080.4	37	c.775	CCDS7561.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.795531	0.96952	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.23147	1.92;1.92;1.92	6.17	6.17	0.99709	Class II aldolase/adducin, N-terminal (3);	0.124545	0.64402	D	0.000001	T	0.47967	0.1474	M	0.62154	1.92	0.80722	D	1	P;D	0.58620	0.886;0.983	P;P	0.58266	0.744;0.836	T	0.19943	-1.0290	10	0.54805	T	0.06	-14.8643	20.8794	0.99867	0.0:0.0:1.0:0.0	.	259;259	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	N	259	ENSP00000353286:D259N;ENSP00000348381:D259N;ENSP00000277900:D259N	ENSP00000277900:D259N	D	+	1	0	ADD3	111869016	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAT	ADD3	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000148700		0.423	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1		0	39	0	G	NM_019903		111879026	1			no_errors	ENST00000356080	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A	A	111879026	G	A	111879026	3	1	67	1	0	0	0	0	1	0	0	0	306	942	33	3	797	3	ADD3	10	111879026	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	4896116	111879026	23655721	169	18344											
VAX1	11023	genome.wustl.edu	37	chr10	118896157	118896157	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggatgatctctcggatGgaccccttggcatctgggga	7	9	15	10	1	2	1	0	1	2	0	4	5	2	5	2	7	0	2	2	7	0	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:118896157G>T	ENST00000369206.5	-	2	254	c.255C>A	c.(253-255)tcC>tcA	p.S85S	VAX1_ENST00000277905.2_Silent_p.S85S	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	85					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TCTCTCGGATGGACCCCTTGG	0.642																																																	0													46	39	41					10																	118896157		2202	4298	6500	SO:0001819	synonymous_variant	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.255C>A	10.37:g.118896157G>T			B1AVW5|Q6ZSX0	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.S85	ENST00000369206.5	37	c.255	CCDS44483.1	10																																																																																			VAX1	-	superfamily_Homeodomain-like	ENSG00000148704		0.642	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	-	0	106	0	G	XM_301242		118896157	-1	tier1	-	no_errors	ENST00000369206	ensembl	human	known	74_37	silent	38.14	60	37	SNP	0.999	T	T	118896157	G	T	118896157	2	4	67	1	0	0	0	0	0	0	0	1	17183	1335	47	3		3	VAX1	10	118896157	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	7017131	118896157	16638590	170	18345											
CPXM2	119587	genome.wustl.edu	37	chr10	125521388	125521388	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccccagagggaggcttacTtccagcgacggtgtgccagg	7	7	14	13	2	0	1	0	0	0	1	2	3	2	2	4	4	3	1	4	4	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:125521388T>G	ENST00000241305.3	-	11	1931	c.1777A>C	c.(1777-1779)Agt>Cgt	p.S593R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	593					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGAGGCTTACTTCCAGCGACG	0.652																																																	0													25	24	25					10																	125521388		2203	4300	6503	SO:0001630	splice_region_variant	0			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase"					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1777+1A>C	10.37:g.125521388T>G			B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.S593R	ENST00000241305.3	37	c.1777	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	T	20.4	3.976277	0.74360	.	.	ENSG00000121898	ENST00000368854;ENST00000241305;ENST00000540123;ENST00000418782	T	0.12039	2.72	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.31295	0.0792	M	0.89904	3.07	0.80722	D	1	B	0.27450	0.179	B	0.37451	0.25	T	0.11767	-1.0574	9	.	.	.	-21.0538	15.5188	0.75846	0.0:0.0:0.0:1.0	.	593	Q8N436	CPXM2_HUMAN	R	89;593;426;568	ENSP00000241305:S593R	.	S	-	1	0	CPXM2	125511378	1.000000	0.71417	1.000000	0.80357	0.196000	0.23810	7.848000	0.86902	2.251000	0.74343	0.496000	0.49642	AGT	CPXM2	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000121898		0.652	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	-	0	50	0	T	NM_198148	Missense_Mutation	125521388	-1	tier1	-	no_errors	ENST00000241305	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	G	G	125521388	T	G	125521388	5	3	67	1	0	0	0	0	0	0	1	0	3845	1623	56	4	509	4	CPXM2	10	125521388	Splice_Site	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	6625231	125521388	10013359	171	18346											
FAM196A	642938	genome.wustl.edu	37	chr10	128974387	128974387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggatggacctgcgtgcGggcactgtcatgtatttgcg	5	12	16	8	3	1	0	1	0	0	0	1	2	1	2	1	4	3	2	1	4	1	3	rs374772780		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:128974387G>A	ENST00000522781.1	-	4	828	c.273C>T	c.(271-273)ccC>ccT	p.P91P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P91P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	91										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACCTGCGTGCGGGCACTGTCA	0.617																																																	0								G	,	0,4406		0,0,2203	120	103	109		273,	-5.2	0.8	10		109	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	91/480,	128974387	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 141"	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.273C>T	10.37:g.128974387G>A			B2RNT4|B7ZME7	Silent	SNP	NULL	p.P91	ENST00000522781.1	37	c.273	CCDS31312.1	10																																																																																			FAM196A	-	NULL	ENSG00000188916		0.617	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196A	HGNC	protein_coding	OTTHUMT00000050978.2	-	0	114	0	G	NM_001039762		128974387	-1	tier1	-	no_errors	ENST00000522781	ensembl	human	known	74_37	silent	19.46	120	29	SNP	0.349	A	A	128974387	G	A	128974387	2	1	67	1	0	0	0	0	0	0	0	1	5547	1103	39	1		1	FAM196A	10	128974387	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	3452999	128974387	6560360	172	18347											
EBF3	253738	genome.wustl.edu	37	chr10	131676100	131676100	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgattgcacttgaggaaaaActttagaaagaatctataaa	18	11	7	5	0	1	4	0	2	1	2	1	5	1	5	0	1	2	1	0	1	8	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:131676100A>C	ENST00000355311.5	-	7	640	c.568T>G	c.(568-570)Ttt>Gtt	p.F190V	EBF3_ENST00000368648.3_Missense_Mutation_p.F190V			Q9H4W6	COE3_HUMAN	early B-cell factor 3	190					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TTGAGGAAAAACTTTAGAAAG	0.378																																																	0													69	64	66					10																	131676100		2203	4300	6503	SO:0001583	missense	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.568T>G	10.37:g.131676100A>C	ENSP00000347463:p.Phe190Val		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.F190V	ENST00000355311.5	37	c.568		10	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919791	0.73098	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.50001	0.76;0.84	5.39	4.26	0.50523	.	0.047642	0.85682	D	0.000000	T	0.60495	0.2273	M	0.62723	1.935	0.80722	D	1	P	0.43938	0.822	P	0.58577	0.841	T	0.58758	-0.7580	10	0.46703	T	0.11	-7.6331	11.0634	0.47961	0.9274:0.0:0.0726:0.0	.	190	Q9H4W6-2	.	V	190	ENSP00000347463:F190V;ENSP00000357637:F190V	ENSP00000347463:F190V	F	-	1	0	EBF3	131566090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	0.885000	0.36088	0.460000	0.39030	TTT	EBF3	-	NULL	ENSG00000108001		0.378	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2		0	20	0	A	NM_001005463		131676100	-1			no_errors	ENST00000355311	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	C	C	131676100	A	C	131676100	3	2	67	1	0	0	0	0	1	0	0	0	4896	43	2	4	1127	4	EBF3	10	131676100	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	2701713	131676100	3858647	173	18348											
DPYSL4	10570	genome.wustl.edu	37	chr10	134015592	134015592	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaaccccaaggccaccaAgatcatctctgccaagaccc	13	5	7	16	0	2	2	1	0	1	2	3	3	2	3	6	2	2	0	6	2	4	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr10:134015592A>C	ENST00000338492.4	+	11	1417	c.1253A>C	c.(1252-1254)aAg>aCg	p.K418T	DPYSL4_ENST00000368629.1_Missense_Mutation_p.K318T|DPYSL4_ENST00000368627.1_Missense_Mutation_p.K318T	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	418					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		AAGGCCACCAAGATCATCTCT	0.557																																																	0													97	94	95					10																	134015592		2203	4300	6503	SO:0001583	missense	0			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1253A>C	10.37:g.134015592A>C	ENSP00000339850:p.Lys418Thr		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.K418T	ENST00000338492.4	37	c.1253	CCDS7665.1	10	.	.	.	.	.	.	.	.	.	.	A	11.92	1.781423	0.31502	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	T;D;D	0.89552	-0.77;-2.53;-2.53	4.58	-5.71	0.02413	Metal-dependent hydrolase, composite domain (1);	0.635134	0.15801	N	0.243950	T	0.82075	0.4958	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.62835	-0.6770	10	0.87932	D	0	-30.9036	13.2277	0.59924	0.4757:0.0:0.5243:0.0	.	418	O14531	DPYL4_HUMAN	T	418;318;318	ENSP00000339850:K418T;ENSP00000357618:K318T;ENSP00000357616:K318T	ENSP00000339850:K418T	K	+	2	0	DPYSL4	133865582	0.000000	0.05858	0.000000	0.03702	0.914000	0.54420	0.052000	0.14163	-1.590000	0.01623	-1.437000	0.01076	AAG	DPYSL4	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000151640		0.557	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	HGNC	protein_coding	OTTHUMT00000051050.2	-	0	64	0	A			134015592	1	tier1	-	no_errors	ENST00000338492	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.000	C	C	134015592	A	C	134015592	3	2	67	1	0	0	0	0	1	0	0	0	4763	72	3	4	1295	4	DPYSL4	10	134015592	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	2339492	134015592	1519155	174	18349											
SLC22A18	5002	genome.wustl.edu	37	chr11	2924611	2924611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcccagggaccagggccgGtcccccggcaggatgagcgc	6	3	16	16	3	0	1	0	1	0	0	2	3	2	3	5	5	1	2	5	5	0	0	rs533027622		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:2924611G>A	ENST00000380574.1	+	2	467	c.36G>A	c.(34-36)cgG>cgA	p.R12R	SLC22A18_ENST00000312221.5_Silent_p.R12R|SLC22A18_ENST00000347936.2_Silent_p.R12R|SLC22A18AS_ENST00000533594.1_Intron|SLC22A18AS_ENST00000455942.2_Intron|SLC22A18_ENST00000449793.2_Silent_p.R12R			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	12			R -> Q (in dbSNP:rs1048047). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9520460, ECO:0000269|PubMed:9570947, ECO:0000269|Ref.6}.		drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACCAGGGCCGGTCCCCCGGCA	0.657													G|||	1	0.000199681	8e-04	0	5008	,	,		17081	0		0	False		,,,				2504	0																0													58	58	58					11																	2924611		2202	4299	6501	SO:0001819	synonymous_variant	0			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"Solute carriers"	10964	protein-coding gene	gene with protein product		602631	"solute carrier family 22 (organic cation transporter), member 1-like"	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.36G>A	11.37:g.2924611G>A			O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.R12	ENST00000380574.1	37	c.36	CCDS7740.1	11																																																																																			SLC22A18	-	NULL	ENSG00000110628		0.657	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A18	HGNC	protein_coding	OTTHUMT00000027770.1	-	0	39	0	G	NM_183233		2924611	1	tier1	-	no_errors	ENST00000312221	ensembl	human	known	74_37	silent	31.15	42	19	SNP	0.002	A	A	2924611	G	A	2924611	2	1	67	1	0	0	0	0	0	0	0	1	14494	1248	44	3		3	SLC22A18	11	2924611	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09		2924611	132081905	175	18350											
OR51E2	81285	genome.wustl.edu	37	chr11	4703860	4703860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacatggaaaggagggggaAgccaacccagaaatgggctt	15	5	14	7	0	0	1	0	0	0	1	0	4	0	4	2	5	3	1	2	5	5	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:4703860A>C	ENST00000396950.3	-	2	321	c.82T>G	c.(82-84)Ttc>Gtc	p.F28V		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	28					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGAGGGGGAAGCCAACCCAG	0.507																																																	0													78	76	76					11																	4703860		2201	4298	6499	SO:0001583	missense	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"GPCR / Class A : Olfactory receptors"	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.82T>G	11.37:g.4703860A>C	ENSP00000380153:p.Phe28Val		B2RA63|Q6IF94	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F28V	ENST00000396950.3	37	c.82	CCDS7751.1	11	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845860	0.32606	.	.	ENSG00000167332	ENST00000396950;ENST00000532598	T;T	0.00309	8.16;8.16	5.0	3.84	0.44239	.	0.000000	0.48767	D	0.000176	T	0.00178	0.0005	N	0.21142	0.635	0.37386	D	0.912252	P	0.39326	0.668	B	0.37943	0.261	D	0.86411	0.1748	10	0.54805	T	0.06	.	10.0647	0.42297	0.8494:0.0:0.0:0.1506	.	28	Q9H255	O51E2_HUMAN	V	28	ENSP00000380153:F28V;ENSP00000432644:F28V	ENSP00000380153:F28V	F	-	1	0	OR51E2	4660436	0.007000	0.16637	0.992000	0.48379	0.677000	0.39632	0.087000	0.14958	0.892000	0.36259	0.533000	0.62120	TTC	OR51E2	-	prints_GPCR_Rhodpsn	ENSG00000167332		0.507	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E2	HGNC	protein_coding	OTTHUMT00000257198.1	-	0	24	0	A	NM_030774		4703860	-1	tier1	-	no_errors	ENST00000396950	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.829	C	C	4703860	A	C	4703860	3	2	67	1	0	0	0	0	1	0	0	0	11134	72	3	4	884	4	OR51E2	11	4703860	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	1779249	4703860	130302656	176	18351											
OR51A7	119687	genome.wustl.edu	37	chr11	4929263	4929263	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttatgtgctgatcttgAagactatactcagcattgca	10	15	8	8	0	3	3	1	2	2	1	3	3	3	3	0	0	4	3	0	0	4	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:4929263A>T	ENST00000359350.4	+	1	664	c.664A>T	c.(664-666)Aag>Tag	p.K222*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGATCTTGAAGACTATACT	0.453																																																	0													243	197	212					11																	4929263		2201	4298	6499	SO:0001587	stop_gained	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.664A>T	11.37:g.4929263A>T	ENSP00000352305:p.Lys222*		Q6IFH8	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.K222*	ENST00000359350.4	37	c.664	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631972	0.67015	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	.	.	.	5.02	5.02	0.67125	.	0.271350	0.26086	N	0.026426	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	13.7057	0.62636	1.0:0.0:0.0:0.0	.	.	.	.	X	222;222;211	.	ENSP00000352305:K222X	K	+	1	0	OR51A7	4885839	0.000000	0.05858	0.989000	0.46669	0.665000	0.39181	-0.030000	0.12308	2.098000	0.63641	0.533000	0.62120	AAG	OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176895		0.453	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	-	0	94	0	A	NM_001004749		4929263	1	tier1	-	no_errors	ENST00000359350	ensembl	human	known	74_37	nonsense	29.07	59	25	SNP	0.831	T	T	4929263	A	T	4929263	4	4	67	1	0	0	0	0	0	1	0	0	11127	247	9	5	666	5	OR51A7	11	4929263	Nonsense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	225403	4929263	130077253	177	18352											
OR51I1	390063	genome.wustl.edu	37	chr11	5461803	5461803	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggccttcagccttcctcaGgcctgggatttatggaagaa	8	10	13	10	0	2	1	2	0	0	1	3	3	3	3	4	5	1	0	4	5	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:5461803G>C	ENST00000380211.1	-	1	941	c.942C>G	c.(940-942)gcC>gcG	p.A314A	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	314					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTCCTCAGGCCTGGGATT	0.468																																																	0													66	65	65					11																	5461803		2201	4297	6498	SO:0001819	synonymous_variant	0			BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"GPCR / Class A : Olfactory receptors"	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.942C>G	11.37:g.5461803G>C			B9EKW2|Q6IF33	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A314	ENST00000380211.1	37	c.942	CCDS31382.1	11																																																																																			OR51I1	-	NULL	ENSG00000167359		0.468	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51I1	HGNC	protein_coding	OTTHUMT00000143399.1	-	0	65	0	G	NM_001005288		5461803	-1	tier1	-	no_errors	ENST00000380211	ensembl	human	known	74_37	silent	14.52	53	9	SNP	0.090	C	C	5461803	G	C	5461803	2	2	67	1	0	0	0	0	0	0	0	1	11139	987	35	5		5	OR51I1	11	5461803	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	532540	5461803	129544713	178	18353											
UBQLNL	143630	genome.wustl.edu	37	chr11	5537319	5537319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggtggcagggatcattcGttggcaggtcccggaaggaa	8	7	16	10	3	1	0	1	0	0	0	3	3	2	3	2	7	0	3	2	7	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:5537319G>A	ENST00000380184.1	-	1	616	c.353C>T	c.(352-354)aCg>aTg	p.T118M	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	118										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGATCATTCGTTGGCAGGTC	0.547																																																	0													175	168	171					11																	5537319		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.353C>T	11.37:g.5537319G>A	ENSP00000369531:p.Thr118Met		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.T118M	ENST00000380184.1	37	c.353	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	G	9.591	1.126202	0.20959	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.56776	0.44	5.14	2.22	0.28083	.	0.918070	0.09055	N	0.855142	T	0.58949	0.2158	M	0.63428	1.95	0.09310	N	1	D	0.71674	0.998	P	0.52514	0.701	T	0.47129	-0.9141	10	0.72032	D	0.01	.	7.6787	0.28500	0.2772:0.0:0.7228:0.0	.	118	Q8IYU4	UBQLN_HUMAN	M	118	ENSP00000369531:T118M	ENSP00000369531:T118M	T	-	2	0	UBQLNL	5493895	0.000000	0.05858	0.006000	0.13384	0.039000	0.13416	0.048000	0.14078	0.559000	0.29153	0.585000	0.79938	ACG	UBQLNL	-	NULL	ENSG00000175518		0.547	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	-	0	26	0	G	NM_145053		5537319	-1	tier1	-	no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	27.66	34	13	SNP	0.000	A	A	5537319	G	A	5537319	3	1	67	1	0	0	0	0	1	0	0	0	16949	1145	40	1	1078	1	UBQLNL	11	5537319	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	75516	5537319	129469197	179	18354											
OR52N1	79473	genome.wustl.edu	37	chr11	5809914	5809914	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaggtacataaggccgaAgttccctgtaatagcaatgc	13	9	11	8	1	0	1	0	1	0	0	1	3	1	1	2	2	3	4	2	2	6	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:5809914A>C	ENST00000317078.1	-	1	132	c.133T>G	c.(133-135)Ttc>Gtc	p.F45V	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATAAGGCCGAAGTTCCCTGTA	0.463																																																	0													132	109	116					11																	5809914		2201	4296	6497	SO:0001583	missense	0			AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"GPCR / Class A : Olfactory receptors"	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.133T>G	11.37:g.5809914A>C	ENSP00000322823:p.Phe45Val		Q6IFF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.F45V	ENST00000317078.1	37	c.133	CCDS31398.1	11	.	.	.	.	.	.	.	.	.	.	A	3.009	-0.204264	0.06180	.	.	ENSG00000181001	ENST00000317078	T	0.02837	4.14	4.58	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.419954	0.20302	N	0.095011	T	0.01454	0.0047	N	0.02315	-0.6	0.09310	N	0.999996	B	0.19706	0.038	B	0.20184	0.028	T	0.49204	-0.8964	10	0.24483	T	0.36	.	10.4742	0.44655	0.8364:0.1636:0.0:0.0	.	45	Q8NH53	O52N1_HUMAN	V	45	ENSP00000322823:F45V	ENSP00000322823:F45V	F	-	1	0	OR52N1	5766490	0.000000	0.05858	0.368000	0.25939	0.448000	0.32197	-1.035000	0.03564	0.838000	0.34948	0.491000	0.48974	TTC	OR52N1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181001		0.463	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N1	HGNC	protein_coding	OTTHUMT00000401142.1	-	0	51	0	A	NM_001001913		5809914	-1	tier1	-	no_errors	ENST00000317078	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.442	C	C	5809914	A	C	5809914	3	2	67	1	0	0	0	0	1	0	0	0	11166	72	3	4	832	4	OR52N1	11	5809914	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	272595	5809914	129196602	180	18355											
NLRP14	338323	genome.wustl.edu	37	chr11	7064119	7064119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacacccagtgtccttcCtcatgagtagtttgctgagg	10	11	10	10	0	1	3	1	2	0	1	3	3	3	3	3	1	2	3	3	1	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:7064119C>G	ENST00000299481.4	+	4	1208	c.862C>G	c.(862-864)Ctc>Gtc	p.L288V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	288	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGTGTCCTTCCTCATGAGTAG	0.433																																																	0													82	77	78					11																	7064119		2201	4296	6497	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.862C>G	11.37:g.7064119C>G	ENSP00000299481:p.Leu288Val		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L288V	ENST00000299481.4	37	c.862	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065046	0.55432	.	.	ENSG00000158077	ENST00000299481	D	0.85629	-2.01	4.57	4.57	0.56435	NACHT nucleoside triphosphatase (1);	0.000000	0.41823	D	0.000803	D	0.88526	0.6460	L	0.49126	1.545	0.34534	D	0.709512	D	0.89917	1.0	D	0.81914	0.995	D	0.90402	0.4403	10	0.48119	T	0.1	.	10.3261	0.43793	0.1963:0.8037:0.0:0.0	.	288	Q86W24	NAL14_HUMAN	V	288	ENSP00000299481:L288V	ENSP00000299481:L288V	L	+	1	0	NLRP14	7020695	0.832000	0.29368	1.000000	0.80357	0.998000	0.95712	2.104000	0.41815	2.554000	0.86153	0.655000	0.94253	CTC	NLRP14	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000158077		0.433	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1	-	0	56	0	C	NM_176822		7064119	1	tier1	-	no_errors	ENST00000299481	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	G	G	7064119	C	G	7064119	3	3	67	1	0	0	0	0	1	0	0	0	10515	681	24	5	872	5	NLRP14	11	7064119	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	1254205	7064119	127942397	181	18356											
CTR9	9646	genome.wustl.edu	37	chr11	10786207	10786207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgccaggctatatgaggCgatgtgtgaattccatgaag	10	11	12	8	2	1	3	0	3	1	0	3	4	2	3	2	2	0	1	2	2	4	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:10786207C>T	ENST00000361367.2	+	12	1952	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	509					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.A509V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CTATATGAGGCGATGTGTGAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											86	76	79					11																	10786207		2201	4294	6495	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1526C>T	11.37:g.10786207C>T	ENSP00000355013:p.Ala509Val		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A509V	ENST00000361367.2	37	c.1526	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521035	0.44866	.	.	ENSG00000198730	ENST00000361367	T	0.17854	2.25	5.88	4.0	0.46444	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.047019	0.85682	D	0.000000	T	0.12603	0.0306	L	0.59912	1.85	0.58432	D	0.999993	P	0.43314	0.803	B	0.31614	0.133	T	0.10200	-1.0640	10	0.29301	T	0.29	-8.7212	6.9186	0.24374	0.1315:0.6749:0.1266:0.0669	.	509	Q6PD62	CTR9_HUMAN	V	509	ENSP00000355013:A509V	ENSP00000355013:A509V	A	+	2	0	CTR9	10742783	1.000000	0.71417	0.655000	0.29622	0.388000	0.30384	6.005000	0.70716	0.812000	0.34326	-0.181000	0.13052	GCG	CTR9	-	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000198730		0.398	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	-	0	30	0	C	NM_014633		10786207	1	tier1	-	no_errors	ENST00000361367	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.990	T	T	10786207	C	T	10786207	3	4	67	1	0	0	0	0	1	0	0	0	4033	768	27	1	1572	1	CTR9	11	10786207	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	3722088	10786207	124220309	182	18357											
ACCSL	390110	genome.wustl.edu	37	chr11	44074968	44074968	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttaggggaaaaaggtcCgaggccttgtgctaatcaac	11	11	11	8	1	2	0	1	0	1	0	3	2	3	1	2	4	2	1	2	4	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:44074968C>T	ENST00000378832.1	+	8	1017	c.961C>T	c.(961-963)Cga>Tga	p.R321*		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	321					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GAAAAAGGTCCGAGGCCTTGT	0.433																																																	0													106	99	101					11																	44074968		1842	4085	5927	SO:0001587	stop_gained	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.961C>T	11.37:g.44074968C>T	ENSP00000368109:p.Arg321*			Nonsense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.R321*	ENST00000378832.1	37	c.961	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	C	16.05	3.012959	0.54468	.	.	ENSG00000205126	ENST00000378832	.	.	.	4.45	0.668	0.17912	.	0.408973	0.27677	N	0.018317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-0.7774	11.1125	0.48241	0.5148:0.4852:0.0:0.0	.	.	.	.	X	321	.	ENSP00000368109:R321X	R	+	1	2	ACCSL	44031544	1.000000	0.71417	0.152000	0.22495	0.001000	0.01503	2.164000	0.42387	0.012000	0.14892	-0.262000	0.10625	CGA	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000205126		0.433	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	-	0	37	0	C	NM_001031854		44074968	1	tier1	-	no_errors	ENST00000378832	ensembl	human	known	74_37	nonsense	25.40	46	16	SNP	0.943	T	T	44074968	C	T	44074968	4	4	67	1	0	0	0	0	0	1	0	0	134	644	23	1	991	1	ACCSL	11	44074968	Nonsense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	33288761	44074968	90931548	183	18358											
OR4C15	81309	genome.wustl.edu	37	chr11	55322161	55322161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggatgcgtgcttcTcatctgtcatcaccccaaag	7	12	7	15	1	4	0	3	0	2	0	6	1	5	1	4	1	2	1	4	1	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:55322161T>C	ENST00000314644.2	+	1	379	c.379T>C	c.(379-381)Tca>Cca	p.S127P		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCGTGCTTCTCATCTGTCAT	0.458										HNSCC(20;0.049)																																							0													189	156	167					11																	55322161		2201	4296	6497	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.379T>C	11.37:g.55322161T>C	ENSP00000324958:p.Ser127Pro		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S127P	ENST00000314644.2	37	c.379	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632128	0.46944	.	.	ENSG00000181939	ENST00000314644	T	0.00832	5.64	5.12	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.05410	0.0143	M	0.88241	2.94	0.09310	N	1	D	0.67145	0.996	D	0.65874	0.939	T	0.11227	-1.0596	9	0.87932	D	0	.	8.3769	0.32449	0.4444:0.0:0.0:0.5556	.	73	Q8NGM1	OR4CF_HUMAN	P	127	ENSP00000324958:S127P	ENSP00000324958:S127P	S	+	1	0	OR4C15	55078737	0.000000	0.05858	0.971000	0.41717	0.653000	0.38743	-0.378000	0.07446	0.945000	0.37605	0.317000	0.21355	TCA	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181939		0.458	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	-	0	89	0	T	NM_001001920		55322161	1	tier1	-	no_errors	ENST00000314644	ensembl	human	known	74_37	missense	25.23	80	27	SNP	0.040	C	C	55322161	T	C	55322161	3	2	67	1	0	0	0	0	1	0	0	0	11087	1551	54	4	381	4	OR4C15	11	55322161	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	11247193	55322161	79684355	184	18359											
OR5L1	219437	genome.wustl.edu	37	chr11	55579353	55579353	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatacacagtcaccatgtcTtggaaggtgcgtgtggagct	9	11	12	9	1	2	0	1	0	1	0	2	2	2	2	1	3	3	1	1	3	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:55579353T>G	ENST00000333973.2	+	1	500	c.411T>G	c.(409-411)tcT>tcG	p.S137S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCACCATGTCTTGGAAGGTGC	0.502																																																	0													209	169	182					11																	55579353		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"GPCR / Class A : Olfactory receptors"	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.411T>G	11.37:g.55579353T>G			B2RNK6|Q6IFD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S137	ENST00000333973.2	37	c.411	CCDS31509.1	11																																																																																			OR5L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186117		0.502	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	-	0	95	0	T	NM_001004738		55579353	1	tier1	-	no_errors	ENST00000333973	ensembl	human	known	74_37	silent	28.00	72	28	SNP	0.053	G	G	55579353	T	G	55579353	2	3	67	1	0	0	0	0	0	0	0	1	11209	1596	56	4		4	OR5L1	11	55579353	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	257192	55579353	79427163	185	18360											
OR5T2	219464	genome.wustl.edu	37	chr11	55999981	55999981	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtgtgagtgtcagaataAgaaatagcaaggagaggagg	15	9	15	2	0	1	4	1	1	0	3	1	6	1	5	0	3	1	1	0	3	5	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:55999981A>C	ENST00000313264.4	-	1	756	c.681T>G	c.(679-681)tcT>tcG	p.S227S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423																																																	0													140	130	133					11																	55999981		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.681T>G	11.37:g.55999981A>C			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S227	ENST00000313264.4	37	c.681	CCDS31523.1	11																																																																																			OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181718		0.423	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0	93	0	A	NM_001004746		55999981	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	49.32	37	36	SNP	0.001	C	C	55999981	A	C	55999981	2	2	67	1	0	0	0	0	0	0	0	1	11221	59	3	4		4	OR5T2	11	55999981	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	420628	55999981	79006535	186	18361											
OR9G1	390174	genome.wustl.edu	37	chr11	56468458	56468458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggctataaaattatgatgTacttcctgctggcctccaat	10	13	8	10	1	0	1	0	1	0	0	2	1	2	1	3	2	2	3	3	2	6	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:56468458T>C	ENST00000312153.1	+	1	595	c.595T>C	c.(595-597)Tac>Cac	p.Y199H		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AATTATGATGTACTTCCTGCT	0.502																																																	0													132	132	132					11																	56468458		2201	4296	6497	SO:0001583	missense	0			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.595T>C	11.37:g.56468458T>C	ENSP00000309012:p.Tyr199His		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y199H	ENST00000312153.1	37	c.595	CCDS31536.1	11	.	.	.	.	.	.	.	.	.	.	T	7.077	0.569419	0.13560	.	.	ENSG00000174914	ENST00000312153	T	0.00158	8.65	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.280944	0.25759	N	0.028483	T	0.00144	0.0004	L	0.32530	0.975	0.09310	N	1	B	0.20887	0.049	B	0.33799	0.17	T	0.30794	-0.9966	10	0.87932	D	0	-21.7199	7.1397	0.25548	0.0:0.1716:0.0:0.8284	.	199	Q8NH87	OR9G1_HUMAN	H	199	ENSP00000309012:Y199H	ENSP00000309012:Y199H	Y	+	1	0	OR9G1	56225034	0.000000	0.05858	0.478000	0.27316	0.176000	0.22953	0.000000	0.12993	2.006000	0.58801	0.467000	0.42956	TAC	OR9G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174914		0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G1	HGNC	protein_coding	OTTHUMT00000393253.1	-	0	149	0	T	NM_001005213		56468458	1	tier1	-	no_errors	ENST00000312153	ensembl	human	known	74_37	missense	17.80	97	21	SNP	0.273	C	C	56468458	T	C	56468458	3	2	67	1	0	0	0	0	1	0	0	0	11289	1638	57	4	597	4	OR9G1	11	56468458	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	468477	56468458	78538058	187	18362											
NOX4	50507	genome.wustl.edu	37	chr11	89060012	89060012	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagagtcttggatagtgaaTtgggtccacaacagaaaaca	16	8	11	6	0	1	3	0	1	1	2	2	5	2	4	1	2	2	0	1	2	6	3	rs568835447		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:89060012T>A	ENST00000263317.4	-	18	1887	c.1649A>T	c.(1648-1650)aAt>aTt	p.N550I	NOX4_ENST00000527956.1_Missense_Mutation_p.N526I|NOX4_ENST00000375979.3_Missense_Mutation_p.N243I|NOX4_ENST00000424319.1_Missense_Mutation_p.N526I|NOX4_ENST00000525196.1_Missense_Mutation_p.N314I|NOX4_ENST00000532825.1_Missense_Mutation_p.N486I|NOX4_ENST00000343727.5_Missense_Mutation_p.N526I|NOX4_ENST00000528341.1_Missense_Mutation_p.N525I|NOX4_ENST00000542487.1_Missense_Mutation_p.N526I|NOX4_ENST00000535633.1_Missense_Mutation_p.N526I|NOX4_ENST00000534731.1_Missense_Mutation_p.N510I|NOX4_ENST00000413594.2_Missense_Mutation_p.N571I|NOX4_ENST00000531342.1_Missense_Mutation_p.N203I|NOX4_ENST00000527626.1_Missense_Mutation_p.N363I			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	550	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GGATAGTGAATTGGGTCCACA	0.363																																																	0													86	85	86					11																	89060012		2201	4299	6500	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1649A>T	11.37:g.89060012T>A	ENSP00000263317:p.Asn550Ile		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.N571I	ENST00000263317.4	37	c.1712	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	T	10.29	1.309209	0.23821	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	4.4	-5.6	0.02497	Ferric reductase, NAD binding (1);	0.732696	0.13267	N	0.400837	D	0.92811	0.7714	L	0.28400	0.85	0.21984	N	0.999433	B;B;B;D;B;P;B;B	0.61697	0.001;0.096;0.332;0.99;0.018;0.477;0.077;0.047	B;B;B;P;B;B;B;B	0.59115	0.051;0.251;0.262;0.852;0.018;0.19;0.039;0.167	D	0.87145	0.2205	9	.	.	.	0.1043	16.3649	0.83317	0.0:0.6229:0.0:0.3771	.	486;363;525;314;203;243;510;550	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	I	526;526;526;510;314;550;486;526;526;363;525;571;203;243	ENSP00000412446:N526I;ENSP00000440172:N526I;ENSP00000344747:N526I;ENSP00000436892:N510I;ENSP00000436716:N314I;ENSP00000263317:N550I;ENSP00000434924:N486I;ENSP00000433797:N526I;ENSP00000439373:N526I;ENSP00000436093:N363I;ENSP00000436970:N525I;ENSP00000405705:N571I;ENSP00000435039:N203I;ENSP00000365146:N243I	.	N	-	2	0	NOX4	88699660	0.409000	0.25368	0.815000	0.32552	0.464000	0.32679	-0.369000	0.07533	-1.094000	0.03054	-0.456000	0.05471	AAT	NOX4	-	pfam_Fe_red_NAD-bd_6	ENSG00000086991		0.363	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1		0	48	0	T	NM_016931		89060012	-1			no_errors	ENST00000413594	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.440	A	A	89060012	T	A	89060012	3	1	67	1	0	0	0	0	1	0	0	0	10597	1493	52	5	91	5	NOX4	11	89060012	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	32591554	89060012	45946504	188	18363											
TRIM49	57093	genome.wustl.edu	37	chr11	89531678	89531678	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaccccatgcaagaaaacTtctaggtgttgcagtgaaat	15	9	8	9	0	1	2	0	1	1	1	1	2	1	2	2	1	4	3	2	1	6	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:89531678T>G	ENST00000329758.1	-	8	1307	c.979A>C	c.(979-981)Agt>Cgt	p.S327R	TRIM49_ENST00000532501.2_Missense_Mutation_p.S250R	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	327	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCAAGAAAACTTCTAGGTGTT	0.418																																																	0													13	16	15					11																	89531678		2019	4186	6205	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.979A>C	11.37:g.89531678T>G	ENSP00000327604:p.Ser327Arg		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.S327R	ENST00000329758.1	37	c.979	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	T	1.569	-0.534586	0.04082	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.08546	3.08	0.539	-1.08	0.09936	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.05823	0.0152	L	0.37850	1.14	0.09310	N	1	B	0.22211	0.066	B	0.20184	0.028	T	0.42666	-0.9438	7	.	.	.	.	.	.	.	.	327	P0CI25	TRI49_HUMAN	R	327;250	ENSP00000327604:S327R	.	S	-	1	0	TRIM49	89171326	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.057000	0.11768	-0.399000	0.07668	-1.394000	0.01149	AGT	TRIM49	-	superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000168930		0.418	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1		0	124	0	T	NM_020358		89531678	-1			no_errors	ENST00000329758	ensembl	human	known	74_37	missense	7.33	139	11	SNP	0.000	G	G	89531678	T	G	89531678	3	3	67	1	0	0	0	0	1	0	0	0	16572	1609	56	4	383	4	TRIM49	11	89531678	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	471666	89531678	45474838	189	18364											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103106512	103106512	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgagaaaaacctgtttgGaagaatggaccaagtcagct	14	9	10	8	0	2	2	1	1	1	2	2	5	2	4	2	2	2	2	2	2	5	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:103106512G>T	ENST00000375735.2	+	62	9823	c.9679G>T	c.(9679-9681)Gaa>Taa	p.E3227*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E3227*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3227					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AACCTGTTTGGAAGAATGGAC	0.348																																																	0													91	86	88					11																	103106512		1830	4100	5930	SO:0001587	stop_gained	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9679G>T	11.37:g.103106512G>T	ENSP00000364887:p.Glu3227*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3227*	ENST00000375735.2	37	c.9679	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	51	18.264782	0.99902	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.59	5.59	0.84812	.	0.280991	0.39759	N	0.001275	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6495	0.95795	0.0:0.0:1.0:0.0	.	.	.	.	X	3227	.	ENSP00000364887:E3227X	E	+	1	0	DYNC2H1	102611722	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.892000	0.75644	2.643000	0.89663	0.579000	0.79373	GAA	DYNC2H1	-	NULL	ENSG00000187240		0.348	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1		0	25	0	G	XM_370652		103106512	1			no_errors	ENST00000398093	ensembl	human	known	74_37	nonsense	6.25	45	3	SNP	1.000	T	T	103106512	G	T	103106512	4	4	67	1	0	0	0	0	0	1	0	0	4860	1175	41	3	9925	3	DYNC2H1	11	103106512	Nonsense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	13574834	103106512	31900004	190	18365											
ZBTB16	7704	genome.wustl.edu	37	chr11	114112974	114112974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacatggaggtccacgcGggcgtgcgcagctacatctg	8	6	14	13	4	1	0	0	0	1	0	2	1	2	1	1	3	4	3	1	3	1	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:114112974G>A	ENST00000335953.4	+	5	1919	c.1539G>A	c.(1537-1539)gcG>gcA	p.A513A	ZBTB16_ENST00000392996.2_Silent_p.A513A|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	513					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGTCCACGCGGGCGTGCGCA	0.627																																																	0													73	56	62					11																	114112974		2201	4296	6497	SO:0001819	synonymous_variant	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1539G>A	11.37:g.114112974G>A			Q8TAL4	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A513	ENST00000335953.4	37	c.1539	CCDS8367.1	11																																																																																			ZBTB16	-	pfscan_Znf_C2H2	ENSG00000109906		0.627	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1		0	22	0	G	NM_006006		114112974	1			no_errors	ENST00000335953	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.850	A	A	114112974	G	A	114112974	2	1	67	1	0	0	0	0	0	0	0	1	17574	1103	39	1		1	ZBTB16	11	114112974	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	11006462	114112974	20893542	191	18366											
BCL9L	283149	genome.wustl.edu	37	chr11	118770650	118770650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccggagccctgcggtggtgGtggggggggcagcaggggcc	3	4	23	11	2	0	0	0	0	0	0	0	1	0	1	3	10	3	2	3	10	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:118770650G>C	ENST00000334801.3	-	7	4346	c.3382C>G	c.(3382-3384)Cca>Gca	p.P1128A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1128	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGCGGTGGTGGTGGGGGGGGC	0.711																																																	0													34	35	34					11																	118770650		2199	4292	6491	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3382C>G	11.37:g.118770650G>C	ENSP00000335320:p.Pro1128Ala		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P1128A	ENST00000334801.3	37	c.3382	CCDS8403.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.673|6.673	0.492662|0.492662	0.12702|0.12702	.|.	.|.	ENSG00000186174|ENSG00000186174	ENST00000530293|ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	.|T	.|0.62232	.|0.04	3.55|3.55	2.62|2.62	0.31277|0.31277	.|.	.|0.413103	.|0.18016	.|N	.|0.154396	T|T	0.33847|0.33847	0.0877|0.0877	N|N	0.08118|0.08118	0|0	0.24979|0.24979	N|N	0.991618|0.991618	.|B;B	.|0.10296	.|0.003;0.002	.|B;B	.|0.06405	.|0.002;0.001	T|T	0.19811|0.19811	-1.0294|-1.0294	5|10	.|0.02654	.|T	.|1	-1.2375|-1.2375	9.8966|9.8966	0.41322|0.41322	0.0:0.4085:0.5915:0.0|0.0:0.4085:0.5915:0.0	.|.	.|1123;1128	.|Q86UU0-2;Q86UU0	.|.;BCL9L_HUMAN	Q|A	147|1128;1091;421;1128;1128	.|ENSP00000335320:P1128A	.|ENSP00000335320:P1128A	H|P	-|-	3|1	2|0	BCL9L|BCL9L	118275860|118275860	0.997000|0.997000	0.39634|0.39634	0.828000|0.828000	0.32881|0.32881	0.553000|0.553000	0.35397|0.35397	2.963000|2.963000	0.49184|0.49184	1.048000|1.048000	0.40298|0.40298	0.655000|0.655000	0.94253|0.94253	CAC|CCA	BCL9L	-	NULL	ENSG00000186174		0.711	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0	94	0	G	NM_182557		118770650	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	missense	8.64	74	7	SNP	1.000	C	C	118770650	G	C	118770650	3	2	67	1	0	0	0	0	1	0	0	0	1383	1261	44	5	1125	5	BCL9L	11	118770650	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	4657676	118770650	16235866	192	18367											
TECTA	7007	genome.wustl.edu	37	chr11	121028665	121028665	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaggagtgtgcgctgcgcaAcggggtgcgcggctgcttca	5	7	18	11	6	1	0	1	0	0	0	1	2	1	1	0	4	5	4	0	4	1	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:121028665A>C	ENST00000392793.1	+	14	4692	c.4421A>C	c.(4420-4422)aAc>aCc	p.N1474T	TECTA_ENST00000264037.2_Missense_Mutation_p.N1474T			O75443	TECTA_HUMAN	tectorin alpha	1474					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.N1474S(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGCTGCGCAACGGGGTGCGC	0.682																																																	1	Substitution - Missense(1)	endometrium(1)											41	39	39					11																	121028665		2203	4298	6501	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4421A>C	11.37:g.121028665A>C	ENSP00000376543:p.Asn1474Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.N1474T	ENST00000392793.1	37	c.4421	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384079	0.42308	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.06687	3.27;3.27	5.55	2.02	0.26589	VWC out (1);	0.467140	0.23093	N	0.052008	T	0.07143	0.0181	L	0.41824	1.3	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30090	-0.9990	10	0.37606	T	0.19	.	8.4324	0.32766	0.7712:0.0:0.2288:0.0	.	1474	O75443	TECTA_HUMAN	T	1474	ENSP00000376543:N1474T;ENSP00000264037:N1474T	ENSP00000264037:N1474T	N	+	2	0	TECTA	120533875	0.732000	0.28121	0.768000	0.31515	0.966000	0.64601	3.348000	0.52209	0.400000	0.25396	0.379000	0.24179	AAC	TECTA	-	smart_VWC_out	ENSG00000109927		0.682	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0	18	0	A	NM_005422		121028665	1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.300	C	C	121028665	A	C	121028665	3	2	67	1	0	0	0	0	1	0	0	0	15794	43	2	4	4471	4	TECTA	11	121028665	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	2258015	121028665	13977851	193	18368											
OR4D5	219875	genome.wustl.edu	37	chr11	123810724	123810724	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccctgcactacacgcTcattatgaatcagactgtct	10	10	6	15	1	3	2	2	1	1	1	3	2	3	2	3	0	3	2	3	0	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:123810724T>G	ENST00000307033.2	+	1	475	c.401T>G	c.(400-402)cTc>cGc	p.L134R		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACTACACGCTCATTATGAAT	0.512																																																	0													122	105	111					11																	123810724		2202	4299	6501	SO:0001583	missense	0			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"GPCR / Class A : Olfactory receptors"	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.401T>G	11.37:g.123810724T>G	ENSP00000305970:p.Leu134Arg		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L134R	ENST00000307033.2	37	c.401	CCDS31699.1	11	.	.	.	.	.	.	.	.	.	.	T	9.726	1.160852	0.21538	.	.	ENSG00000171014	ENST00000307033	T	0.00561	6.59	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.766524	0.11100	N	0.599807	T	0.00608	0.0020	L	0.37750	1.13	0.19775	N	0.999959	B	0.22480	0.07	B	0.29716	0.106	T	0.50800	-0.8785	10	0.87932	D	0	-1.9943	6.2655	0.20924	0.0:0.2031:0.0:0.7969	.	134	Q8NGN0	OR4D5_HUMAN	R	134	ENSP00000305970:L134R	ENSP00000305970:L134R	L	+	2	0	OR4D5	123315934	0.000000	0.05858	0.016000	0.15963	0.159000	0.22180	0.039000	0.13884	2.082000	0.62665	0.533000	0.62120	CTC	OR4D5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000171014		0.512	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D5	HGNC	protein_coding	OTTHUMT00000387263.1	-	0	55	0	T	NM_001001965		123810724	1	tier1	-	no_errors	ENST00000307033	ensembl	human	known	74_37	missense	15.71	59	11	SNP	0.328	G	G	123810724	T	G	123810724	3	3	67	1	0	0	0	0	1	0	0	0	11096	1551	54	4	403	4	OR4D5	11	123810724	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	2782059	123810724	11195792	194	18369											
OR8D2	283160	genome.wustl.edu	37	chr11	124189450	124189450	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgaaagcataagagataAggaccgccagtgtagttgct	16	8	11	6	1	0	2	0	1	0	1	0	4	0	3	2	1	2	4	2	1	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:124189450A>C	ENST00000357438.2	-	1	734	c.644T>G	c.(643-645)cTt>cGt	p.L215R		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ATAAGAGATAAGGACCGCCAG	0.453																																																	0													87	88	88					11																	124189450		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.644T>G	11.37:g.124189450A>C	ENSP00000350022:p.Leu215Arg		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L215R	ENST00000357438.2	37	c.644	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	a	13.47	2.246586	0.39697	.	.	ENSG00000197263	ENST00000357438	T	0.00277	8.34	3.11	-0.749	0.11084	GPCR, rhodopsin-like superfamily (1);	0.512841	0.16294	N	0.220783	T	0.00468	0.0015	H	0.94925	3.6	0.09310	N	1	P	0.39022	0.655	P	0.46629	0.522	T	0.29640	-1.0005	10	0.87932	D	0	.	5.0419	0.14463	0.6637:0.1545:0.1818:0.0	.	215	Q9GZM6	OR8D2_HUMAN	R	215	ENSP00000350022:L215R	ENSP00000350022:L215R	L	-	2	0	OR8D2	123694660	0.020000	0.18652	0.000000	0.03702	0.091000	0.18340	2.935000	0.48963	-0.123000	0.11745	0.432000	0.28606	CTT	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197263		0.453	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	-	0	38	0	A	NM_001002918		124189450	-1	tier1	-	no_errors	ENST00000357438	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.000	C	C	124189450	A	C	124189450	3	2	67	1	0	0	0	0	1	0	0	0	11271	72	3	4	294	4	OR8D2	11	124189450	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	378726	124189450	10817066	195	18370			2	15		3	3	559	A		1.240131e-05
OR8D2	283160	genome.wustl.edu	37	chr11	124189480	124189480	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtagttgctaaggtattaActcctccaataatgaacagc	13	12	8	8	0	0	1	0	1	0	0	2	1	2	1	2	1	4	4	2	1	7	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:124189480A>C	ENST00000357438.2	-	1	704	c.614T>G	c.(613-615)gTt>gGt	p.V205G		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TAAGGTATTAACTCCTCCAAT	0.413																																																	0													95	92	93					11																	124189480		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.614T>G	11.37:g.124189480A>C	ENSP00000350022:p.Val205Gly		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V205G	ENST00000357438.2	37	c.614	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	a	17.27	3.347324	0.61183	.	.	ENSG00000197263	ENST00000357438	T	0.39229	1.09	3.55	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.548879	0.14998	N	0.286284	T	0.31389	0.0795	N	0.20685	0.6	0.20764	N	0.999851	P	0.39157	0.662	P	0.45377	0.478	T	0.14811	-1.0459	10	0.87932	D	0	.	4.9443	0.13982	0.7446:0.0:0.0934:0.162	.	205	Q9GZM6	OR8D2_HUMAN	G	205	ENSP00000350022:V205G	ENSP00000350022:V205G	V	-	2	0	OR8D2	123694690	0.002000	0.14202	0.003000	0.11579	0.977000	0.68977	0.976000	0.29462	0.739000	0.32628	0.432000	0.28606	GTT	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197263		0.413	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	-	0	37	0	A	NM_001002918		124189480	-1	tier1	-	no_errors	ENST00000357438	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.011	C	C	124189480	A	C	124189480	3	2	67	1	0	0	0	0	1	0	0	0	11271	43	2	4	324	4	OR8D2	11	124189480	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	30	124189480	10817036	196	18371			2	15		3	3	559	A		1.240131e-05
OR8D2	283160	genome.wustl.edu	37	chr11	124190008	124190008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatattccaaggaacaggAggaagagtggcagttgaagt	15	8	13	5	0	0	2	0	1	0	1	1	5	1	5	1	4	1	2	1	4	6	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr11:124190008A>G	ENST00000357438.2	-	1	176	c.86T>C	c.(85-87)cTc>cCc	p.L29P		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGGAACAGGAGGAAGAGTGG	0.448																																																	0													86	84	85					11																	124190008		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.86T>C	11.37:g.124190008A>G	ENSP00000350022:p.Leu29Pro		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L29P	ENST00000357438.2	37	c.86	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	a	12.95	2.092797	0.36952	.	.	ENSG00000197263	ENST00000357438	T	0.00458	7.28	3.42	3.42	0.39159	.	0.369536	0.19376	N	0.115781	T	0.00875	0.0029	M	0.70108	2.13	0.22127	N	0.999346	D	0.57257	0.979	P	0.54401	0.751	T	0.47535	-0.9110	10	0.72032	D	0.01	.	11.9154	0.52763	1.0:0.0:0.0:0.0	.	29	Q9GZM6	OR8D2_HUMAN	P	29	ENSP00000350022:L29P	ENSP00000350022:L29P	L	-	2	0	OR8D2	123695218	0.021000	0.18746	0.015000	0.15790	0.516000	0.34256	2.949000	0.49074	1.808000	0.52836	0.324000	0.21423	CTC	OR8D2	-	prints_GPCR_Rhodpsn	ENSG00000197263		0.448	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	-	0	52	0	A	NM_001002918		124190008	-1	tier1	-	no_errors	ENST00000357438	ensembl	human	known	74_37	missense	37.88	41	25	SNP	0.027	G	G	124190008	A	G	124190008	3	3	67	1	0	0	0	0	1	0	0	0	11271	304	11	4	852	4	OR8D2	11	124190008	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	528	124190008	10816508	197	18372			2	15		3	3	559	A		1.240131e-05
FGD4	121512	genome.wustl.edu	37	chr12	32729381	32729381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtcgctttgaaggaggCaggtaagagctaatttacaa	14	10	11	6	1	1	2	1	1	0	1	2	3	1	3	0	3	2	4	0	3	5	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:32729381C>T	ENST00000427716.2	+	3	514	c.90C>T	c.(88-90)ggC>ggT	p.G30G	FGD4_ENST00000473513.1_3'UTR|FGD4_ENST00000525053.1_Silent_p.G142G|FGD4_ENST00000472289.1_Silent_p.G30G|FGD4_ENST00000546442.1_Intron|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Silent_p.G167G|FGD4_ENST00000531134.1_Silent_p.G115G	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	30	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TTGAAGGAGGCAGGTAAGAGC	0.373																																																	0													87	84	85					12																	32729381		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	19125	protein-coding gene	gene with protein product		611104	"FGD1 family, member 4"			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.90C>T	12.37:g.32729381C>T			Q6ULS2|Q8TCP6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.G30	ENST00000427716.2	37	c.90	CCDS8727.1	12																																																																																			FGD4	-	NULL	ENSG00000139132		0.373	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	-	0	25	0	C	NM_139241		32729381	1	tier1	-	no_errors	ENST00000427716	ensembl	human	known	74_37	silent	61.54	10	16	SNP	1.000	T	T	32729381	C	T	32729381	2	4	67	1	0	0	0	0	0	0	0	1	5857	697	25	3		3	FGD4	12	32729381	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09		32729381	101122514	198	18373											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43944806	43944806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtccgagggccctgcgTcgctctcccaggccccgcgc	3	5	14	19	5	1	0	0	0	1	0	4	1	2	0	5	3	1	2	5	3	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:43944806T>G	ENST00000389420.3	-	2	358	c.359A>C	c.(358-360)gAc>gCc	p.D120A	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D120A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	120					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGGCCCTGCGTCGCTCTCCCA	0.657																																																	0													24	27	26					12																	43944806		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.359A>C	12.37:g.43944806T>G	ENSP00000374071:p.Asp120Ala		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D120A	ENST00000389420.3	37	c.359	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	T	0.604	-0.827993	0.02734	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05717	3.4;3.4	3.22	0.166	0.14999	Peptidase M12B, propeptide (1);	1.175710	0.06479	N	0.732518	T	0.02119	0.0066	N	0.02539	-0.55	0.09310	N	1	B	0.20671	0.047	B	0.19666	0.026	T	0.45963	-0.9225	10	0.10377	T	0.69	.	1.3529	0.02177	0.1473:0.42:0.145:0.2877	.	120	P59510	ATS20_HUMAN	A	120	ENSP00000374071:D120A;ENSP00000448341:D120A	ENSP00000374068:D120A	D	-	2	0	ADAMTS20	42231073	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.510000	0.22723	0.057000	0.16193	-1.039000	0.02377	GAC	ADAMTS20	-	pfam_Peptidase_M12B_N	ENSG00000173157		0.657	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1		0	61	0	T	NM_025003		43944806	-1			no_errors	ENST00000389420	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	G	G	43944806	T	G	43944806	3	3	67	1	0	0	0	0	1	0	0	0	266	1667	58	4	5524	4	ADAMTS20	12	43944806	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	11215425	43944806	89907089	199	18374											
POU6F1	5463	genome.wustl.edu	37	chr12	51589790	51589790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaggtgtgcttggcttcCggacagccacaggtggaggc	7	8	15	11	1	1	0	1	0	0	0	2	2	2	2	2	6	2	2	2	6	0	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:51589790C>T	ENST00000389243.4	-	8	1151	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	POU6F1_ENST00000333640.10_Missense_Mutation_p.R71Q|POU6F1_ENST00000550824.1_Missense_Mutation_p.R71Q			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	71	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GCTTGGCTTCCGGACAGCCAC	0.677																																																	0													15	16	15					12																	51589790		2196	4288	6484	SO:0001583	missense	0			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.212G>A	12.37:g.51589790C>T	ENSP00000373895:p.Arg71Gln		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.R71Q	ENST00000389243.4	37	c.212	CCDS31803.1	12	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829533	0.32329	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.84298	-1.83;-1.83;-1.83	5.62	5.62	0.85841	.	2.480030	0.01770	N	0.031157	T	0.78672	0.4320	N	0.21142	0.635	0.36642	D	0.876921	B	0.31817	0.341	B	0.21546	0.035	T	0.56481	-0.7972	10	0.05959	T	0.93	.	18.4778	0.90799	0.0:1.0:0.0:0.0	.	71	Q14863	PO6F1_HUMAN	Q	71	ENSP00000373895:R71Q;ENSP00000330190:R71Q;ENSP00000448389:R71Q	ENSP00000330190:R71Q	R	-	2	0	POU6F1	49876057	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.857000	0.27831	2.667000	0.90743	0.638000	0.83543	CGG	POU6F1	-	NULL	ENSG00000184271		0.677	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	HGNC	protein_coding	OTTHUMT00000405126.1		0	23	0	C	NM_002702		51589790	-1			no_errors	ENST00000333640	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	T	T	51589790	C	T	51589790	3	4	67	1	0	0	0	0	1	0	0	0	12323	652	23	1	709	1	POU6F1	12	51589790	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	7644984	51589790	82262105	200	18375											
ITGA5	3678	genome.wustl.edu	37	chr12	54799668	54799668	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttacctgttcccctgagaAgttgtagagggatcgaatgt	9	12	11	9	1	0	2	0	1	0	2	2	5	1	3	4	1	1	3	4	1	4	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:54799668A>C	ENST00000293379.4	-	10	1210	c.949T>G	c.(949-951)Ttc>Gtc	p.F317V	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	317					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCCCTGAGAAGTTGTAGAGG	0.527																																																	0													127	119	122					12																	54799668		2203	4300	6503	SO:0001583	missense	0				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"CD molecules", "Integrins"	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.949T>G	12.37:g.54799668A>C	ENSP00000293379:p.Phe317Val		Q96HA5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.F317V	ENST00000293379.4	37	c.949	CCDS8880.1	12	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682707	0.47991	.	.	ENSG00000161638	ENST00000293379	T	0.22336	1.96	4.82	3.66	0.41972	.	0.216238	0.37437	N	0.002090	T	0.20455	0.0492	L	0.52905	1.665	0.44309	D	0.997185	B	0.09022	0.002	B	0.06405	0.002	T	0.03750	-1.1007	10	0.56958	D	0.05	.	9.8971	0.41324	0.8205:0.1795:0.0:0.0	.	317	P08648	ITA5_HUMAN	V	317	ENSP00000293379:F317V	ENSP00000293379:F317V	F	-	1	0	ITGA5	53085935	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.537000	0.53590	0.962000	0.38057	0.459000	0.35465	TTC	ITGA5	-	smart_Int_alpha_beta-p	ENSG00000161638		0.527	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	-	0	80	0	A			54799668	-1	tier1	-	no_errors	ENST00000293379	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	C	C	54799668	A	C	54799668	3	2	67	1	0	0	0	0	1	0	0	0	7906	72	3	4	2284	4	ITGA5	12	54799668	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3209878	54799668	79052227	201	18376											
KIAA0748	9840	genome.wustl.edu	37	chr12	55356740	55356740	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatcacttccaacacaacTtggtccaaactgttcctttt	10	14	3	14	0	1	0	1	0	0	0	5	0	5	0	4	1	3	1	4	1	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:55356740T>G	ENST00000449076.1	-	9	1074	c.942A>C	c.(940-942)caA>caC	p.Q314H	TESPA1_ENST00000524622.1_Missense_Mutation_p.Q176H|TESPA1_ENST00000532804.1_Missense_Mutation_p.Q176H|TESPA1_ENST00000531122.1_Missense_Mutation_p.Q176H|TESPA1_ENST00000316577.8_Missense_Mutation_p.Q314H|TESPA1_ENST00000524959.1_5'Flank	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	314					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CCAACACAACTTGGTCCAAAC	0.532																																																	0													73	75	74					12																	55356740		1952	4131	6083	SO:0001583	missense	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"KIAA0748"	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.942A>C	12.37:g.55356740T>G	ENSP00000400892:p.Gln314His		B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	NULL	p.Q314H	ENST00000449076.1	37	c.942	CCDS44913.1	12	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629612	0.46944	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.49	2.84	0.33178	.	0.176947	0.37715	N	0.001962	T	0.55577	0.1929	L	0.32530	0.975	0.31633	N	0.6488	P	0.40875	0.731	P	0.49752	0.621	T	0.60326	-0.7285	10	0.52906	T	0.07	-7.7409	5.068	0.14592	0.0:0.1001:0.1791:0.7209	.	314	A2RU30	K0748_HUMAN	H	176;176;314;314;176	ENSP00000435622:Q176H;ENSP00000432030:Q176H;ENSP00000400892:Q314H;ENSP00000312679:Q314H;ENSP00000433098:Q176H	ENSP00000312679:Q314H	Q	-	3	2	KIAA0748	53643007	0.662000	0.27439	1.000000	0.80357	0.370000	0.29829	-0.088000	0.11198	0.947000	0.37659	0.533000	0.62120	CAA	TESPA1	-	NULL	ENSG00000135426		0.532	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	-	0	81	0	T	NM_001098815		55356740	-1	tier1	-	no_errors	ENST00000316577	ensembl	human	known	74_37	missense	29.13	73	30	SNP	1.000	G	G	55356740	T	G	55356740	3	3	67	1	0	0	0	0	1	0	0	0	8217	1606	56	4	631	4	KIAA0748	12	55356740	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	557072	55356740	78495155	202	18377											
WIF1	11197	genome.wustl.edu	37	chr12	65445161	65445161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggattcaggtggatcccGccgctcctcggcctttttaa	6	13	10	12	3	1	0	1	0	0	0	4	2	3	2	4	4	0	1	4	4	1	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:65445161G>A	ENST00000286574.4	-	10	1482	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	370					multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGTGGATCCCGCCGCTCCTCG	0.498			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													69	69	69					12																	65445161		2203	4300	6503	SO:0001583	missense	0			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.1108C>T	12.37:g.65445161G>A	ENSP00000286574:p.Arg370Trp		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.R370W	ENST00000286574.4	37	c.1108	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	G	14.32	2.498790	0.44455	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	D;T	0.89050	-2.46;-0.98	5.43	3.52	0.40303	.	0.830172	0.10982	N	0.612632	T	0.77164	0.4090	N	0.14661	0.345	0.26931	N	0.966456	P	0.44260	0.83	B	0.29942	0.109	T	0.62760	-0.6786	9	.	.	.	.	14.8701	0.70450	0.0:0.0:0.7301:0.2699	.	370	Q9Y5W5	WIF1_HUMAN	W	370;119	ENSP00000286574:R370W;ENSP00000439024:R119W	.	R	-	1	2	WIF1	63731428	1.000000	0.71417	0.140000	0.22221	0.928000	0.56348	4.925000	0.63425	0.864000	0.35578	0.643000	0.83706	CGG	WIF1	-	NULL	ENSG00000156076		0.498	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	HGNC	protein_coding	OTTHUMT00000401258.2		0	18	0	G			65445161	-1			no_errors	ENST00000286574	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.893	A	A	65445161	G	A	65445161	3	1	67	1	0	0	0	0	1	0	0	0	17415	1086	38	1	35	1	WIF1	12	65445161	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	10088421	65445161	68406734	203	18378											
PTPRB	5787	genome.wustl.edu	37	chr12	70965008	70965008	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccattagctcctgaccaAgtcacatgcaagtcctcagt	10	10	6	15	0	2	1	2	1	0	0	5	1	5	1	5	0	2	2	5	0	3	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:70965008A>T	ENST00000261266.5	-	11	2543	c.2514T>A	c.(2512-2514)acT>acA	p.T838T	PTPRB_ENST00000550857.1_Silent_p.T748T|PTPRB_ENST00000451516.2_Silent_p.T748T|PTPRB_ENST00000538708.1_Silent_p.T838T|PTPRB_ENST00000551525.1_Silent_p.T1055T|PTPRB_ENST00000334414.6_Silent_p.T1056T|PTPRB_ENST00000550358.1_Silent_p.T968T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	838	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCCTGACCAAGTCACATGCA	0.448																																																	0													95	89	91					12																	70965008		1991	4178	6169	SO:0001819	synonymous_variant	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2514T>A	12.37:g.70965008A>T			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T1056	ENST00000261266.5	37	c.3168	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000127329		0.448	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	-	0	27	0	A			70965008	-1	tier1	-	no_errors	ENST00000334414	ensembl	human	known	74_37	silent	52.00	12	13	SNP	0.094	T	T	70965008	A	T	70965008	2	4	67	1	0	0	0	0	0	0	0	1	12841	59	3	5		5	PTPRB	12	70965008	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	5519847	70965008	62886887	204	18379											
NAV3	89795	genome.wustl.edu	37	chr12	78444899	78444899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtgatatccttgggaaaAgtctcaggactgatgacatc	12	11	11	7	0	1	3	1	3	1	0	4	5	2	5	1	3	0	0	1	3	3	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:78444899A>C	ENST00000397909.2	+	11	2661	c.2488A>C	c.(2488-2490)Agt>Cgt	p.S830R	NAV3_ENST00000266692.7_Missense_Mutation_p.S830R|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000536525.2_Missense_Mutation_p.S830R|NAV3_ENST00000228327.6_Missense_Mutation_p.S830R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	830						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTTGGGAAAAGTCTCAGGAC	0.453										HNSCC(70;0.22)																																							0													71	70	70					12																	78444899		2056	4208	6264	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2488A>C	12.37:g.78444899A>C	ENSP00000381007:p.Ser830Arg		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S830R	ENST00000397909.2	37	c.2488		12	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742911	0.89573	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.29397	1.67;1.67;1.67;1.57	5.79	5.79	0.91817	.	0.000000	0.47093	U	0.000241	T	0.34600	0.0903	L	0.50333	1.59	0.80722	D	1	P;P;P	0.41848	0.655;0.543;0.763	B;B;B	0.41619	0.231;0.096;0.361	T	0.16364	-1.0405	10	0.87932	D	0	-14.916	16.1249	0.81386	1.0:0.0:0.0:0.0	.	830;830;830	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	R	830	ENSP00000446132:S830R;ENSP00000381007:S830R;ENSP00000228327:S830R;ENSP00000266692:S830R	ENSP00000228327:S830R	S	+	1	0	NAV3	76969030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.864000	0.92294	2.208000	0.71279	0.533000	0.62120	AGT	NAV3	-	NULL	ENSG00000067798		0.453	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	69	0	A	NM_001024383		78444899	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	70.87	30	73	SNP	1.000	C	C	78444899	A	C	78444899	3	2	67	1	0	0	0	0	1	0	0	0	10223	72	3	4	2530	4	NAV3	12	78444899	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	7479891	78444899	55406996	205	18380											
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100452004	100452004	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatcaaatgaaagtatattCgaatcttctctgtagtttaa	14	16	5	6	1	3	1	1	1	2	0	5	2	3	1	0	0	0	3	0	0	8	8			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:100452004C>T	ENST00000279907.7	-	14	3263	c.3051G>A	c.(3049-3051)tcG>tcA	p.S1017S	UHRF1BP1L_ENST00000545232.2_Silent_p.S667S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1017										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAAGTATATTCGAATCTTCTC	0.308																																																	0													65	70	68					12																	100452004		2202	4297	6499	SO:0001819	synonymous_variant	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3051G>A	12.37:g.100452004C>T			A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	NULL	p.S1017	ENST00000279907.7	37	c.3051	CCDS31882.1	12																																																																																			UHRF1BP1L	-	NULL	ENSG00000111647		0.308	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	-	0	53	0	C	NM_001006947		100452004	-1	tier1	-	no_errors	ENST00000279907	ensembl	human	known	74_37	silent	42.86	24	18	SNP	0.001	T	T	100452004	C	T	100452004	2	4	67	1	0	0	0	0	0	0	0	1	17018	871	31	1		1	UHRF1BP1L	12	100452004	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	22007105	100452004	33399891	206	18381											
GNPTAB	79158	genome.wustl.edu	37	chr12	102173983	102173983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgtttttagttgatttgTttccttgaatgttggtggaa	6	23	10	2	0	0	2	0	2	0	0	1	3	1	3	1	2	0	4	1	2	3	10			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:102173983T>C	ENST00000299314.7	-	7	980	c.718A>G	c.(718-720)Aca>Gca	p.T240A	GNPTAB_ENST00000549940.1_Missense_Mutation_p.T240A|RNA5SP368_ENST00000364298.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	240					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGTTGATTTGTTTCCTTGAAT	0.353																																																	0													160	158	159					12																	102173983		2203	4300	6503	SO:0001583	missense	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.718A>G	12.37:g.102173983T>C	ENSP00000299314:p.Thr240Ala		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom	p.T240A	ENST00000299314.7	37	c.718	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682758	0.88542	.	.	ENSG00000111670	ENST00000299314;ENST00000549940;ENST00000552681	D;D;T	0.97161	-3.99;-4.27;-1.25	6.04	6.04	0.98038	.	0.046419	0.85682	D	0.000000	D	0.97967	0.9331	M	0.65975	2.015	0.80722	D	1	P;D	0.76494	0.952;0.999	P;D	0.68039	0.547;0.955	D	0.98323	1.0529	10	0.51188	T	0.08	-20.6792	16.5763	0.84648	0.0:0.0:0.0:1.0	.	240;240	Q3T906-2;Q3T906	.;GNPTA_HUMAN	A	240;240;118	ENSP00000299314:T240A;ENSP00000449150:T240A;ENSP00000449217:T118A	ENSP00000299314:T240A	T	-	1	0	GNPTAB	100698114	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.969000	0.70422	2.317000	0.78254	0.459000	0.35465	ACA	GNPTAB	-	NULL	ENSG00000111670		0.353	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	-	0	59	0	T			102173983	-1	tier1	-	no_errors	ENST00000299314	ensembl	human	known	74_37	missense	8.75	73	7	SNP	1.000	C	C	102173983	T	C	102173983	3	2	67	1	0	0	0	0	1	0	0	0	6571	1725	60	4	3112	4	GNPTAB	12	102173983	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	1721979	102173983	31677912	207	18382											
C12orf51	283450	genome.wustl.edu	37	chr12	112622687	112622687	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggtggcggaggatgatGagcagggtgagtgcgcggtg	7	7	23	4	3	0	4	0	4	0	0	0	6	0	6	0	6	2	1	0	6	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:112622687G>T	ENST00000430131.2	-	60	9962	c.8817C>A	c.(8815-8817)ctC>ctA	p.L2939L	HECTD4_ENST00000377560.5_Silent_p.L3189L|HECTD4_ENST00000550722.1_Silent_p.L3215L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2939					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGAGGATGATGAGCAGGGTGA	0.692																																																	0													61	72	68					12																	112622687		2199	4292	6491	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8817C>A	12.37:g.112622687G>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.L3189	ENST00000430131.2	37	c.9567		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.692	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	123	0	G	NM_173813		112622687	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	30.89	85	38	SNP	1.000	T	T	112622687	G	T	112622687	2	4	67	1	0	0	0	0	0	0	0	1	1701	1277	45	3		3	C12orf51	12	112622687	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	10448704	112622687	21229208	208	18383											
KSR2	283455	genome.wustl.edu	37	chr12	117993038	117993038	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctgaatagcgaggtggcTtccgtagagggttgttgatg	7	12	17	5	2	1	3	0	2	1	1	2	4	2	3	1	4	1	4	1	4	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:117993038T>G	ENST00000339824.5	-	9	2181	c.1454A>C	c.(1453-1455)aAg>aCg	p.K485T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.K456T|KSR2_ENST00000302438.5_Missense_Mutation_p.K182T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	485					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGGTGGCTTCCGTAGAGG	0.512																																																	0													144	151	149					12																	117993038		1984	4157	6141	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1454A>C	12.37:g.117993038T>G	ENSP00000339952:p.Lys485Thr		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.K485T	ENST00000339824.5	37	c.1454		12	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191171	0.38707	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.86164	-1.27;-1.27;-2.08	4.97	4.97	0.65823	.	0.180731	0.39687	N	0.001281	T	0.78997	0.4372	N	0.12182	0.205	0.49915	D	0.999832	P	0.38395	0.629	B	0.40901	0.343	T	0.80155	-0.1500	10	0.40728	T	0.16	.	14.3329	0.66569	0.0:0.0:0.0:1.0	.	485	Q6VAB6	KSR2_HUMAN	T	456;485;182;157	ENSP00000389715:K456T;ENSP00000339952:K485T;ENSP00000305466:K182T	ENSP00000305466:K182T	K	-	2	0	KSR2	116477421	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	3.524000	0.53495	1.857000	0.53885	0.460000	0.39030	AAG	KSR2	-	NULL	ENSG00000171435		0.512	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0	125	0	T	NM_173598		117993038	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	67.54	37	77	SNP	1.000	G	G	117993038	T	G	117993038	3	3	67	1	0	0	0	0	1	0	0	0	8610	1609	56	4	1446	4	KSR2	12	117993038	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	5370351	117993038	15858857	209	18384											
POLE	5426	genome.wustl.edu	37	chr12	133257759	133257759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagcctgtcttctcacCaggctccttcagccgctcaa	7	9	8	17	1	4	0	3	0	2	0	6	1	5	0	5	1	3	2	5	1	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr12:133257759C>G	ENST00000320574.5	-	2	212	c.169G>C	c.(169-171)Ggt>Cgt	p.G57R	POLE_ENST00000535270.1_Missense_Mutation_p.G57R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	57					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTCTTCTCACCAGGCTCCTTC	0.547								DNA polymerases (catalytic subunits)																																									0													131	121	124					12																	133257759		2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.169G>C	12.37:g.133257759C>G	ENSP00000322570:p.Gly57Arg		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.G57R	ENST00000320574.5	37	c.169	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	11.35	1.612429	0.28712	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02737	4.21;4.2;4.18	4.93	4.93	0.64822	.	0.116455	0.56097	D	0.000022	T	0.02571	0.0078	L	0.33189	0.99	0.47698	D	0.999492	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.001	T	0.51818	-0.8657	10	0.16896	T	0.51	.	8.4427	0.32824	0.1558:0.7619:0.0:0.0823	.	57;57	F5H1D6;Q07864	.;DPOE1_HUMAN	R	57;68;57	ENSP00000322570:G57R;ENSP00000406383:G68R;ENSP00000445753:G57R	ENSP00000322570:G57R	G	-	1	0	POLE	131767832	0.999000	0.42202	1.000000	0.80357	0.883000	0.51084	4.526000	0.60566	2.442000	0.82660	0.561000	0.74099	GGT	POLE	-	NULL	ENSG00000177084		0.547	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	40	0	C	NM_006231		133257759	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	G	G	133257759	C	G	133257759	3	3	67	1	0	0	0	0	1	0	0	0	12235	594	21	5	6883	5	POLE	12	133257759	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	15264721	133257759	594136	210	18385											
RNF17	56163	genome.wustl.edu	37	chr13	25348977	25348977	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctgtaaatactagacaAcgctactacccaatggctgg	14	8	8	11	1	0	1	0	0	0	1	0	1	0	1	1	2	5	4	1	2	8	5	rs201698876		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr13:25348977A>C	ENST00000255324.5	+	3	304	c.252A>C	c.(250-252)caA>caC	p.Q84H	RNF17_ENST00000381921.1_Missense_Mutation_p.Q84H|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.Q84H	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	84					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATACTAGACAACGCTACTACC	0.348																																																	0													100	97	98					13																	25348977		2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.252A>C	13.37:g.25348977A>C	ENSP00000255324:p.Gln84His		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.Q84H	ENST00000255324.5	37	c.252	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	A	11.14	1.550408	0.27739	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.85702	-2.02;-2.02;-2.02	4.49	3.3	0.37823	.	0.142424	0.32563	N	0.005938	D	0.85265	0.5657	L	0.32530	0.975	0.25155	N	0.990396	D;D;D	0.89917	0.976;0.976;1.0	P;P;D	0.69479	0.564;0.459;0.964	T	0.75528	-0.3286	10	0.87932	D	0	.	6.6529	0.22971	0.8915:0.0:0.1085:0.0	.	84;84;84	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	H	84	ENSP00000255324:Q84H;ENSP00000371346:Q84H;ENSP00000255325:Q84H	ENSP00000255324:Q84H	Q	+	3	2	RNF17	24246977	0.751000	0.28327	0.446000	0.26920	0.042000	0.13812	1.159000	0.31749	0.859000	0.35456	0.402000	0.26972	CAA	RNF17	-	NULL	ENSG00000132972		0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	54	0	A	NM_031994		25348977	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	18.18	63	14	SNP	0.818	C	C	25348977	A	C	25348977	3	2	67	1	0	0	0	0	1	0	0	0	13506	40	2	4	262	4	RNF17	13	25348977	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		25348977	89820901	211	18386											
DCLK1	9201	genome.wustl.edu	37	chr13	36348801	36348801	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctggttgcgtcttcgTcggaaaacctgcctctcctt	6	13	8	14	3	2	0	0	0	2	0	6	1	3	1	4	2	3	1	4	2	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr13:36348801T>C	ENST00000360631.3	-	17	2305	c.2094A>G	c.(2092-2094)cgA>cgG	p.R698R	DCLK1_ENST00000255448.4_Missense_Mutation_p.D723G|DCLK1_ENST00000379893.1_Silent_p.R391R			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	698	Poly-Arg.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCGTCTTCGTCGGAAAACCT	0.532																																																	0													51	44	46					13																	36348801		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.2094A>G	13.37:g.36348801T>C			B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.D723G	ENST00000360631.3	37	c.2168		13	.	.	.	.	.	.	.	.	.	.	T	23.8	4.454849	0.84209	.	.	ENSG00000133083	ENST00000399319;ENST00000255448	T	0.67523	-0.27	5.95	5.95	0.96441	.	.	.	.	.	T	0.73923	0.3649	.	.	.	0.80722	D	1	D;D	0.54207	0.965;0.965	P;B	0.50270	0.636;0.418	T	0.77411	-0.2598	8	0.72032	D	0.01	.	16.4159	0.83738	0.0:0.0:0.0:1.0	.	723;416	O15075-2;O15075-3	.;.	G	415;723	ENSP00000255448:D723G	ENSP00000255448:D723G	D	-	2	0	DCLK1	35246801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.279000	0.76181	0.533000	0.62120	GAC	DCLK1	-	NULL	ENSG00000133083		0.532	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0	26	0	T	NM_004734		36348801	-1	tier1	-	no_errors	ENST00000255448	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C	C	36348801	T	C	36348801	2	2	67	1	0	0	0	0	0	0	0	1	4300	1667	58	4		4	DCLK1	13	36348801	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	10999824	36348801	78821077	212	18387											
HTR2A	3356	genome.wustl.edu	37	chr13	47409370	47409370	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccatgatgtttgtgatgaAgaaagggcaccacatcacca	13	8	11	9	0	1	4	1	3	0	1	1	4	1	4	3	2	0	2	3	2	2	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr13:47409370A>C	ENST00000378688.4	-	3	1149	c.1018T>G	c.(1018-1020)Ttc>Gtc	p.F340V	HTR2A_ENST00000543956.1_Missense_Mutation_p.F256V|HTR2A_ENST00000542664.1_Missense_Mutation_p.F340V			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	340	Agonist binding. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TTTGTGATGAAGAAAGGGCAC	0.498																																																	0													163	132	143					13																	47409370		2203	4300	6503	SO:0001583	missense	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5293	protein-coding gene	gene with protein product		182135	"5-hydroxytryptamine (serotonin) receptor 2A"	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.1018T>G	13.37:g.47409370A>C	ENSP00000367959:p.Phe340Val		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.F340V	ENST00000378688.4	37	c.1018	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	A	22.9	4.343707	0.82022	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.38240	1.15;1.15;1.15	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84711	0.0734	10	0.87932	D	0	.	15.7408	0.77894	1.0:0.0:0.0:0.0	.	256;340	F5GWE8;P28223	.;5HT2A_HUMAN	V	340;256;340	ENSP00000367959:F340V;ENSP00000441861:F256V;ENSP00000437737:F340V	ENSP00000367959:F340V	F	-	1	0	HTR2A	46307371	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	2.367000	0.80283	0.528000	0.53228	TTC	HTR2A	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt	ENSG00000102468		0.498	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	-	0	39	0	A	NM_000621		47409370	-1	tier1	-	no_errors	ENST00000378688	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	C	C	47409370	A	C	47409370	3	2	67	1	0	0	0	0	1	0	0	0	7468	72	3	4	401	4	HTR2A	13	47409370	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	11060569	47409370	67760508	213	18388											
FNDC3A	22862	genome.wustl.edu	37	chr13	49710555	49710555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaaaattgaaggatcGccaaggaacacagaaagata	21	4	10	6	1	0	4	0	1	0	3	1	6	0	6	1	2	1	1	1	2	8	2	rs369583924		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr13:49710555G>T	ENST00000492622.2	+	6	883	c.578G>T	c.(577-579)cGc>cTc	p.R193L	FNDC3A_ENST00000541916.1_Missense_Mutation_p.R193L|FNDC3A_ENST00000398316.3_Missense_Mutation_p.R137L	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	193					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTGAAGGATCGCCAAGGAACA	0.388																																																	0													100	97	98					13																	49710555		2203	4300	6503	SO:0001583	missense	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.578G>T	13.37:g.49710555G>T	ENSP00000417257:p.Arg193Leu		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R193L	ENST00000492622.2	37	c.578	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810264	0.90707	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.37411	1.2;1.2;1.2	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000005	T	0.60932	0.2307	M	0.68317	2.08	0.51767	D	0.999932	D;D;D	0.89917	1.0;1.0;0.975	D;D;P	0.87578	0.997;0.998;0.762	T	0.61922	-0.6963	10	0.66056	D	0.02	-6.4611	18.6226	0.91326	0.0:0.0:1.0:0.0	.	137;193;193	Q9Y2H6-2;G5E9X3;Q9Y2H6	.;.;FND3A_HUMAN	L	193;129;193;137	ENSP00000417257:R193L;ENSP00000441831:R193L;ENSP00000381362:R137L	ENSP00000338579:R129L	R	+	2	0	FNDC3A	48608556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.526000	0.81920	2.638000	0.89438	0.563000	0.77884	CGC	FNDC3A	-	NULL	ENSG00000102531		0.388	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2		0	44	0	G	NM_014923		49710555	1			no_errors	ENST00000492622	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	49710555	G	T	49710555	3	4	67	1	0	0	0	0	1	0	0	0	5991	1087	38	2	607	2	FNDC3A	13	49710555	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	2301185	49710555	65459323	214	18389											
PCDH20	64881	genome.wustl.edu	37	chr13	61987441	61987441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggtgcgctccccattcTcattctcctccacgtccagg	5	10	10	16	2	2	0	1	0	2	0	7	0	5	0	5	3	1	1	5	3	0	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr13:61987441T>C	ENST00000409186.1	-	5	2896	c.791A>G	c.(790-792)gAg>gGg	p.E264G	PCDH20_ENST00000409204.4_Missense_Mutation_p.E264G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	264	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTCCCCATTCTCATTCTCCTC	0.527																																																	0													99	86	90					13																	61987441		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.791A>G	13.37:g.61987441T>C	ENSP00000386653:p.Glu264Gly		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E264G	ENST00000409186.1	37	c.791	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893809	0.52121	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.54071	0.59;0.59	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000003	T	0.52108	0.1714	N	0.12443	0.215	0.80722	D	1	D	0.61080	0.989	P	0.57911	0.829	T	0.59690	-0.7407	10	0.59425	D	0.04	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	264	A8K1K9	.	G	264;264;10	ENSP00000387250:E264G;ENSP00000386653:E264G	ENSP00000351500:E10G	E	-	2	0	PCDH20	60885442	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.916000	0.63362	2.269000	0.75478	0.533000	0.62120	GAG	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.527	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	-	0	46	0	T	NM_022843		61987441	-1	tier1	-	no_errors	ENST00000409186	ensembl	human	known	74_37	missense	13.04	60	9	SNP	1.000	C	C	61987441	T	C	61987441	3	2	67	1	0	0	0	0	1	0	0	0	11554	1551	54	4	2068	4	PCDH20	13	61987441	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	12276886	61987441	53182437	215	18390											
FAM155A	728215	genome.wustl.edu	37	chr13	108518858	108518858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctctcggaatcgatGaacggtttctcgttctctcg	6	13	10	12	5	3	2	0	2	3	0	8	4	3	3	1	2	2	2	1	2	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr13:108518858G>T	ENST00000375915.2	-	1	225	c.87C>A	c.(85-87)ttC>ttA	p.F29L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	29						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGGAATCGATGAACGGTTTCT	0.527																																																	0													164	173	170					13																	108518858		2203	4300	6503	SO:0001583	missense	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.87C>A	13.37:g.108518858G>T	ENSP00000365080:p.Phe29Leu		B2RUV1|B7Z334	Missense_Mutation	SNP	NULL	p.F29L	ENST00000375915.2	37	c.87	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250078	0.39797	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.13	5.13	0.70059	.	0.057989	0.64402	D	0.000002	T	0.57504	0.2058	L	0.36672	1.1	0.35459	D	0.796364	D	0.54047	0.964	P	0.61477	0.889	T	0.64241	-0.6454	9	0.37606	T	0.19	.	11.1145	0.48252	0.0845:0.0:0.9155:0.0	.	29	B1AL88	F155A_HUMAN	L	29	.	ENSP00000365080:F29L	F	-	3	2	FAM155A	107316859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.588000	0.46137	2.390000	0.81377	0.650000	0.86243	TTC	FAM155A	-	NULL	ENSG00000204442		0.527	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	-	0	42	0	G	NM_001080396		108518858	-1	tier1	-	no_errors	ENST00000375915	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T	T	108518858	G	T	108518858	3	4	67	1	0	0	0	0	1	0	0	0	5484	1281	45	3	1301	3	FAM155A	13	108518858	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	46531417	108518858	6651020	216	18391											
GPR137C	283554	genome.wustl.edu	37	chr14	53066829	53066829	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatactttttttctttcAgaattctactgcatttgggc	9	20	5	7	0	3	1	1	0	2	1	3	1	3	1	0	1	3	1	0	1	5	10			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr14:53066829A>C	ENST00000321662.6	+	3	488		c.e3-1			NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C							integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTTTTCTTTCAGAATTCTACT	0.333																																																	0													107	95	99					14																	53066829		1807	4070	5877	SO:0001630	splice_region_variant	0			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.489-1A>C	14.37:g.53066829A>C			Q86SM2	Splice_Site	SNP	-	e3-2	ENST00000321662.6	37	c.489-2	CCDS45106.1	14	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993442	0.74703	.	.	ENSG00000180998	ENST00000321662;ENST00000542169;ENST00000555622	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7054	0.77577	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR137C	52136579	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.660000	0.74417	2.164000	0.68074	0.477000	0.44152	.	GPR137C	-	-	ENSG00000180998		0.333	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137C	HGNC	protein_coding	OTTHUMT00000411685.1	-	0	55	0	A	XM_290615	Intron	53066829	1	tier1	-	no_errors	ENST00000321662	ensembl	human	known	74_37	splice_site	39.58	29	19	SNP	1.000	C	C	53066829	A	C	53066829	5	2	67	1	0	0	0	0	0	0	1	0	6673	202	7	4	497	4	GPR137C	14	53066829	Splice_Site	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		53066829	54282711	217	18392											
SYT16	83851	genome.wustl.edu	37	chr14	62550917	62550917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttcccctccagagtGgagggtctccgctcagccca	5	11	10	15	1	3	1	1	0	2	1	6	2	5	2	5	2	1	2	5	2	0	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr14:62550917G>A	ENST00000430451.2	+	5	1635	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	480					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCTCCAGAGTGGAGGGTCTCC	0.522																																																	0													99	95	96					14																	62550917		1964	4149	6113	SO:0001583	missense	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1438G>A	14.37:g.62550917G>A	ENSP00000394700:p.Gly480Arg		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.G480R	ENST00000430451.2	37	c.1438	CCDS45121.1	14	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671346	0.47781	.	.	ENSG00000139973	ENST00000430451	T	0.04119	3.7	5.44	4.54	0.55810	.	0.363944	0.28114	N	0.016554	T	0.08714	0.0216	L	0.50333	1.59	0.80722	D	1	P	0.37985	0.613	B	0.41466	0.358	T	0.20273	-1.0280	10	0.37606	T	0.19	-3.599	16.2773	0.82651	0.0:0.1325:0.8675:0.0	.	480	Q17RD7	SYT16_HUMAN	R	480	ENSP00000394700:G480R	ENSP00000394700:G480R	G	+	1	0	SYT16	61620670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.763000	0.47605	1.491000	0.48482	0.643000	0.83706	GGA	SYT16	-	NULL	ENSG00000139973		0.522	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1		0	44	0	G	NM_031914		62550917	1			no_errors	ENST00000430451	ensembl	human	novel	74_37	missense	5.26	36	2	SNP	1.000	A	A	62550917	G	A	62550917	3	1	67	1	0	0	0	0	1	0	0	0	15519	1349	47	3	1456	3	SYT16	14	62550917	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	9484088	62550917	44798623	218	18393											
TGFB3	7043	genome.wustl.edu	37	chr14	76431997	76431997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattgggctgaaaggtgtGacatggacagtgaatgctga	11	10	14	6	0	0	4	0	4	0	0	1	5	1	5	1	3	1	2	1	3	2	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr14:76431997G>T	ENST00000238682.3	-	4	985	c.688C>A	c.(688-690)Cac>Aac	p.H230N	TGFB3_ENST00000556285.1_Missense_Mutation_p.H230N	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	230					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TGAAAGGTGTGACATGGACAG	0.423																																																	0													261	241	248					14																	76431997		2203	4300	6503	SO:0001583	missense	0				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"Endogenous ligands"	11769	protein-coding gene	gene with protein product	"prepro-transforming growth factor beta-3"	190230	"arrhythmogenic right ventricular dysplasia 1"	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.688C>A	14.37:g.76431997G>T	ENSP00000238682:p.His230Asn		Q8WV88	Missense_Mutation	SNP	pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta	p.H230N	ENST00000238682.3	37	c.688	CCDS9846.1	14	.	.	.	.	.	.	.	.	.	.	G	2.197	-0.383964	0.04966	.	.	ENSG00000119699	ENST00000238682;ENST00000556285	T;T	0.75938	-0.98;-0.24	5.31	5.31	0.75309	.	0.053821	0.85682	D	0.000000	T	0.57814	0.2079	L	0.36672	1.1	0.39796	D	0.972504	B	0.11235	0.004	B	0.11329	0.006	T	0.51156	-0.8741	10	0.02654	T	1	-10.2328	8.5736	0.33585	0.0764:0.0:0.7704:0.1531	.	230	P10600	TGFB3_HUMAN	N	230	ENSP00000238682:H230N;ENSP00000451110:H230N	ENSP00000238682:H230N	H	-	1	0	TGFB3	75501750	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.477000	0.60223	2.625000	0.88918	0.650000	0.86243	CAC	TGFB3	-	pirsf_TGF-beta	ENSG00000119699		0.423	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	-	0	51	0	G	NM_003239		76431997	-1	tier1	-	no_errors	ENST00000238682	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	76431997	G	T	76431997	3	4	67	1	0	0	0	0	1	0	0	0	15866	1290	45	3	566	3	TGFB3	14	76431997	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	13881080	76431997	30917543	219	18394											
RYR3	6263	genome.wustl.edu	37	chr15	33922237	33922237	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgcaaatgtcaactgaaAccttaaagtgagtatttaat	16	12	6	7	0	1	2	1	2	0	0	1	2	1	2	2	0	3	2	2	0	7	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr15:33922237A>C	ENST00000389232.4	+	22	2846	c.2776A>C	c.(2776-2778)Acc>Ccc	p.T926P	RYR3_ENST00000415757.3_Missense_Mutation_p.T926P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	926	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCAACTGAAACCTTAAAGTG	0.343																																																	0													78	72	74					15																	33922237		1834	4082	5916	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2776A>C	15.37:g.33922237A>C	ENSP00000373884:p.Thr926Pro		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T926P	ENST00000389232.4	37	c.2776	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339699	0.81911	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.92199	-2.99;-2.99	5.35	5.35	0.76521	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	D	0.97609	1.0128	10	0.72032	D	0.01	.	15.503	0.75716	1.0:0.0:0.0:0.0	.	926;926	Q15413-2;Q15413	.;RYR3_HUMAN	P	926	ENSP00000373884:T926P;ENSP00000399610:T926P	ENSP00000354735:T926P	T	+	1	0	RYR3	31709529	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.651000	0.91078	2.236000	0.73375	0.528000	0.53228	ACC	RYR3	-	pfam_Ryanodine_rcpt	ENSG00000198838		0.343	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	34	0	A			33922237	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	C	C	33922237	A	C	33922237	3	2	67	1	0	0	0	0	1	0	0	0	13815	43	2	4	2862	4	RYR3	15	33922237	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		33922237	68609155	220	18395											
SCG3	29106	genome.wustl.edu	37	chr15	51975284	51975284	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgcttcacagattgctgaAgcagaagaagacaagattaa	16	10	9	6	0	1	6	1	1	0	5	1	6	1	6	0	0	3	3	0	0	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr15:51975284A>G	ENST00000220478.3	+	3	547	c.144A>G	c.(142-144)gaA>gaG	p.E48E	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	48					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AGATTGCTGAAGCAGAAGAAG	0.323																																																	0													70	78	75					15																	51975284		2195	4293	6488	SO:0001819	synonymous_variant	0			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.144A>G	15.37:g.51975284A>G			A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Silent	SNP	NULL	p.E48	ENST00000220478.3	37	c.144	CCDS10142.1	15																																																																																			SCG3	-	NULL	ENSG00000104112		0.323	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG3	HGNC	protein_coding	OTTHUMT00000254670.2	-	0	50	0	A	NM_013243		51975284	1	tier1	-	no_errors	ENST00000220478	ensembl	human	known	74_37	silent	58.33	20	28	SNP	1.000	G	G	51975284	A	G	51975284	2	3	67	1	0	0	0	0	0	0	0	1	13937	69	3	4		4	SCG3	15	51975284	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	18053047	51975284	50556108	221	18396											
UNC13C	440279	genome.wustl.edu	37	chr15	54860049	54860049	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagaatttcttggagaaaAgcccagatcttcagtctctg	14	11	8	8	0	4	3	1	0	3	3	5	4	4	3	1	1	1	0	1	1	5	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr15:54860049A>C	ENST00000260323.11	+	29	6010	c.6010A>C	c.(6010-6012)Agc>Cgc	p.S2004R	UNC13C_ENST00000545554.1_Missense_Mutation_p.S2004R|UNC13C_ENST00000537900.1_Missense_Mutation_p.S2002R	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2004	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTGGAGAAAAGCCCAGATCT	0.368																																																	0													66	63	64					15																	54860049		1798	4070	5868	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.6010A>C	15.37:g.54860049A>C	ENSP00000260323:p.Ser2004Arg		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S2004R	ENST00000260323.11	37	c.6010	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753846	0.89843	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.76968	-1.06;-1.06;-1.06	5.91	5.91	0.95273	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.081891	0.85682	D	0.000000	D	0.89511	0.6736	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91197	0.4988	10	0.87932	D	0	.	15.5243	0.75890	1.0:0.0:0.0:0.0	.	2004	Q8NB66	UN13C_HUMAN	R	2004;2004;2002	ENSP00000260323:S2004R;ENSP00000438156:S2004R;ENSP00000442569:S2002R	ENSP00000260323:S2004R	S	+	1	0	UNC13C	52647341	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.273000	0.95719	2.263000	0.75096	0.377000	0.23210	AGC	UNC13C	-	pfam_Munc13_subgr_dom-2	ENSG00000137766		0.368	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	56	0	A	NM_173166		54860049	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	46.34	22	19	SNP	1.000	C	C	54860049	A	C	54860049	3	2	67	1	0	0	0	0	1	0	0	0	17035	72	3	4	6120	4	UNC13C	15	54860049	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	2884765	54860049	47671343	222	18397											
TEX9	374618	genome.wustl.edu	37	chr15	56686979	56686979	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacaaaactcttttcgaaGaagcaaacaaaaagtatgat	21	9	5	6	1	1	2	0	1	1	1	2	3	1	2	0	0	4	2	0	0	10	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr15:56686979G>T	ENST00000352903.2	+	9	799	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	TEX9_ENST00000558083.2_Nonsense_Mutation_p.E184*|TEX9_ENST00000561221.2_Nonsense_Mutation_p.E259*|TEX9_ENST00000537232.1_Nonsense_Mutation_p.E184*|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Nonsense_Mutation_p.E15*	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	259										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TCTTTTCGAAGAAGCAAACAA	0.308																																																	0													50	55	53					15																	56686979		2192	4282	6474	SO:0001587	stop_gained	0			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"testis expressed sequence 9"				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.775G>T	15.37:g.56686979G>T	ENSP00000342169:p.Glu259*		B4DH73	Nonsense_Mutation	SNP	NULL	p.E259*	ENST00000352903.2	37	c.775	CCDS10157.1	15	.	.	.	.	.	.	.	.	.	.	G	38	7.176081	0.98114	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	.	.	.	5.25	5.25	0.73442	.	0.095855	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-28.4931	17.4112	0.87486	0.0:0.0:1.0:0.0	.	.	.	.	X	259;184	.	ENSP00000342169:E259X	E	+	1	0	TEX9	54474271	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.535000	0.82014	2.453000	0.82957	0.591000	0.81541	GAA	TEX9	-	NULL	ENSG00000151575		0.308	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX9	HGNC	protein_coding	OTTHUMT00000255048.2	-	0	31	0	G	NM_198524		56686979	1	tier1	-	no_errors	ENST00000352903	ensembl	human	known	74_37	nonsense	40.00	15	10	SNP	1.000	T	T	56686979	G	T	56686979	4	4	67	1	0	0	0	0	0	1	0	0	15831	943	33	3	809	3	TEX9	15	56686979	Nonsense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	1826930	56686979	45844413	223	18398											
HCN4	10021	genome.wustl.edu	37	chr15	73617465	73617465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtcagcatggacgtcacGaagttggggtccgcattggc	7	10	15	9	3	2	0	2	0	0	0	3	2	3	1	1	5	1	3	1	5	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr15:73617465G>A	ENST00000261917.3	-	6	2802	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	603					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGACGTCACGAAGTTGGGGT	0.562																																																	0													142	123	129					15																	73617465		2198	4297	6495	SO:0001819	synonymous_variant	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1809C>T	15.37:g.73617465G>A			Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.F603	ENST00000261917.3	37	c.1809	CCDS10248.1	15																																																																																			HCN4	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000138622		0.562	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	-	0	72	0	G	NM_005477		73617465	-1	tier1	-	no_errors	ENST00000261917	ensembl	human	known	74_37	silent	31.58	52	24	SNP	0.941	A	A	73617465	G	A	73617465	2	1	67	1	0	0	0	0	0	0	0	1	7026	1049	37	1		1	HCN4	15	73617465	Silent	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	16930486	73617465	28913927	224	18399											
ZNF592	9640	genome.wustl.edu	37	chr15	85334024	85334024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaagtccccctactgctGcccggagtgtggggtcctct	6	9	11	15	1	1	0	0	0	1	0	3	1	3	1	4	3	3	1	4	3	2	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr15:85334024G>T	ENST00000560079.2	+	5	2597	c.2309G>T	c.(2308-2310)tGc>tTc	p.C770F	ZNF592_ENST00000299927.3_Missense_Mutation_p.C770F	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	770					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCCTACTGCTGCCCGGAGTGT	0.582																																																	0													126	109	114					15																	85334024		2203	4299	6502	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.2309G>T	15.37:g.85334024G>T	ENSP00000452877:p.Cys770Phe		Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C770F	ENST00000560079.2	37	c.2309	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671357	0.88348	.	.	ENSG00000166716	ENST00000299927	T	0.58940	0.3	5.61	5.61	0.85477	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.82990	0.5157	H	0.94462	3.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.87487	0.2424	10	0.87932	D	0	-13.8176	17.145	0.86764	0.0:0.0:1.0:0.0	.	770	Q92610	ZN592_HUMAN	F	770	ENSP00000299927:C770F	ENSP00000299927:C770F	C	+	2	0	ZNF592	83135028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.753000	0.98904	2.646000	0.89796	0.563000	0.77884	TGC	ZNF592	-	smart_Znf_C2H2-like	ENSG00000166716		0.582	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	-	0	67	0	G	NM_014630		85334024	1	tier1	-	no_errors	ENST00000299927	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	85334024	G	T	85334024	3	4	67	1	0	0	0	0	1	0	0	0	18070	1319	46	3	2315	3	ZNF592	15	85334024	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	11716559	85334024	17197368	225	18400											
MRPL28	10573	genome.wustl.edu	37	chr16	418610	418610	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaggtccatcccaaacTtggagcacaggtcctccttc	8	10	8	15	0	1	0	1	0	0	0	6	1	5	1	4	3	2	2	4	3	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr16:418610T>G	ENST00000199706.8	-	4	502	c.467A>C	c.(466-468)aAg>aCg	p.K156T	MRPL28_ENST00000429738.1_Intron|MRPL28_ENST00000389675.2_Missense_Mutation_p.K156T	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	156					translation (GO:0006412)	cytoplasm (GO:0005737)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CATCCCAAACTTGGAGCACAG	0.682																																																	0													60	64	63					16																	418610		2203	4299	6502	SO:0001583	missense	0			U19796	CCDS32349.1	16p13.12	2012-09-26	2002-11-13		ENSG00000086504	ENSG00000086504		"Mitochondrial ribosomal proteins / large subunits"	14484	protein-coding gene	gene with protein product		604853	"melanoma-associated antigen recognised by cytotoxic T lymphocytes"	MAAT1		11551941, 19753307	Standard	NM_006428		Approved	p15	uc002cgs.2	Q13084	OTTHUMG00000047994	ENST00000199706.8:c.467A>C	16.37:g.418610T>G	ENSP00000199706:p.Lys156Thr		B2RCM4|D3DU46|Q4TT39|Q96S26|Q9BQD8|Q9BR04	Missense_Mutation	SNP	NULL	p.K156T	ENST00000199706.8	37	c.467	CCDS32349.1	16	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036881	0.54896	.	.	ENSG00000086504	ENST00000397735;ENST00000199706;ENST00000397734;ENST00000389675;ENST00000441883;ENST00000447696;ENST00000450882	T;T;T;T;T	0.33865	1.82;1.82;1.83;1.41;1.39	3.64	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.58047	0.2095	M	0.80847	2.515	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.71414	0.973;0.973;0.973	T	0.60203	-0.7309	10	0.36615	T	0.2	-32.1218	12.4384	0.55612	0.0:0.0:0.0:1.0	.	156;156;156	A2IDC6;Q13084;Q4TT38	.;RM28_HUMAN;.	T	156	ENSP00000199706:K156T;ENSP00000374326:K156T;ENSP00000398684:K156T;ENSP00000390399:K156T;ENSP00000395305:K156T	ENSP00000199706:K156T	K	-	2	0	MRPL28	358611	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	5.728000	0.68531	1.513000	0.48852	0.460000	0.39030	AAG	MRPL28	-	NULL	ENSG00000086504		0.682	MRPL28-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL28	HGNC	protein_coding	OTTHUMT00000139285.2	-	0	110	0	T			418610	-1	tier1	-	no_errors	ENST00000199706	ensembl	human	known	74_37	missense	30.30	69	30	SNP	1.000	G	G	418610	T	G	418610	3	3	67	1	0	0	0	0	1	0	0	0	9830	1609	56	4	315	4	MRPL28	16	418610	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09		418610	89936143	226	18401											
LONP2	83752	genome.wustl.edu	37	chr16	48382140	48382140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcactttttagtgggcGgctggtacgttcagatgtag	6	13	13	9	3	2	1	2	0	0	1	2	1	2	1	1	3	1	4	1	3	3	6	rs199759503		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr16:48382140G>T	ENST00000285737.4	+	14	2369	c.2276G>T	c.(2275-2277)cGg>cTg	p.R759L	LONP2_ENST00000535754.1_Missense_Mutation_p.R715L|LONP2_ENST00000564259.1_3'UTR	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTAGTGGGCGGCTGGTACGT	0.423																																																	0													141	140	140					16																	48382140		2200	4300	6500	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2276G>T	16.37:g.48382140G>T	ENSP00000285737:p.Arg759Leu			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.R759L	ENST00000285737.4	37	c.2276	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.545880	0.96488	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754	T;T	0.28255	1.62;1.62	6.17	6.17	0.99709	Ribosomal protein S5 domain 2-type fold (1);Peptidase S16, Lon C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	M	0.71036	2.16	0.80722	D	1	P;P	0.48503	0.911;0.911	P;P	0.53809	0.665;0.735	T	0.31308	-0.9948	10	0.41790	T	0.15	-23.1121	20.8794	0.99867	0.0:0.0:1.0:0.0	.	715;759	B7ZKL7;Q86WA8	.;LONP2_HUMAN	L	759;488;715	ENSP00000285737:R759L;ENSP00000445426:R715L	ENSP00000285737:R759L	R	+	2	0	LONP2	46939641	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.933000	0.87642	2.941000	0.99782	0.655000	0.94253	CGG	LONP2	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.423	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0	56	0	G	NM_031490		48382140	1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	48382140	G	T	48382140	3	4	67	1	0	0	0	0	1	0	0	0	8928	1116	39	2	2330	2	LONP2	16	48382140	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	47963530	48382140	41972613	227	18402											
CBLN1	869	genome.wustl.edu	37	chr16	49315182	49315182	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggtgctcctgatggcAgagaaagccaccttggcgct	7	10	14	10	1	0	2	0	1	0	1	1	3	1	2	3	4	2	4	3	4	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr16:49315182A>G	ENST00000219197.6	-	1	560	c.195T>C	c.(193-195)tcT>tcC	p.S65S	CBLN1_ENST00000536749.1_Silent_p.S65S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	65	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TCCTGATGGCAGAGAAAGCCA	0.622																																																	0													60	61	60					16																	49315182		2200	4300	6500	SO:0001819	synonymous_variant	0			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.195T>C	16.37:g.49315182A>G			B2RAN9|P02682|Q52M09	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.S65	ENST00000219197.6	37	c.195	CCDS10736.1	16																																																																																			CBLN1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000102924		0.622	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	-	0	101	0	A	NM_004352		49315182	-1	tier1	-	no_errors	ENST00000219197	ensembl	human	known	74_37	silent	38.81	41	26	SNP	0.992	G	G	49315182	A	G	49315182	2	3	67	1	0	0	0	0	0	0	0	1	2711	175	7	4		4	CBLN1	16	49315182	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	933042	49315182	41039571	228	18403											
SALL1	6299	genome.wustl.edu	37	chr16	51174296	51174296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtggcagagtggacccttCggcttcctctgggagcccac	5	8	15	13	1	1	1	0	0	1	1	3	3	2	3	3	5	1	2	3	5	0	2	rs554062425		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr16:51174296C>T	ENST00000251020.4	-	2	1870	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	SALL1_ENST00000440970.1_Missense_Mutation_p.E516K|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	613					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTGGACCCTTCGGCTTCCTCT	0.622													C|||	1	0.000199681	8e-04	0	5008	,	,		16348	0		0	False		,,,				2504	0				GBM(103;1352 1446 1855 4775 8890)												0													28	31	30					16																	51174296		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1837G>A	16.37:g.51174296C>T	ENSP00000251020:p.Glu613Lys		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E613K	ENST00000251020.4	37	c.1837	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017495	0.75161	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07114	3.22;3.22	5.22	5.22	0.72569	.	0.046330	0.85682	D	0.000000	T	0.12050	0.0293	M	0.71581	2.175	0.80722	D	1	P	0.44090	0.826	B	0.31869	0.137	T	0.06499	-1.0823	10	0.66056	D	0.02	.	18.7797	0.91926	0.0:1.0:0.0:0.0	.	613	Q9NSC2	SALL1_HUMAN	K	613;516;577	ENSP00000251020:E613K;ENSP00000407914:E516K	ENSP00000251020:E613K	E	-	1	0	SALL1	49731797	1.000000	0.71417	0.377000	0.26055	0.962000	0.63368	7.802000	0.85969	2.428000	0.82296	0.557000	0.71058	GAA	SALL1	-	NULL	ENSG00000103449		0.622	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	16	0	C	NM_002968		51174296	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	57.69	11	15	SNP	1.000	T	T	51174296	C	T	51174296	3	4	67	1	0	0	0	0	1	0	0	0	13855	893	31	1	2145	1	SALL1	16	51174296	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	1859114	51174296	39180457	229	18404											
IRX6	79190	genome.wustl.edu	37	chr16	55363013	55363013	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcccggcctaggccacgaAgtcctgagtgccgtatgatt	8	8	12	13	3	0	2	0	2	0	0	1	3	1	2	5	2	2	1	5	2	3	3	rs546661838		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr16:55363013A>C	ENST00000290552.7	+	5	2455	c.1123A>C	c.(1123-1125)Agt>Cgt	p.S375R	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TAGGCCACGAAGTCCTGAGTG	0.637																																																	0													67	62	63					16																	55363013		2198	4300	6498	SO:0001583	missense	0			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1123A>C	16.37:g.55363013A>C	ENSP00000290552:p.Ser375Arg		B2RN06|Q7Z2K0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.S375R	ENST00000290552.7	37	c.1123	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	A	17.84	3.486903	0.63962	.	.	ENSG00000159387	ENST00000290552	D	0.90004	-2.6	5.36	4.27	0.50696	.	1.155260	0.06148	N	0.673553	D	0.89798	0.6819	L	0.27053	0.805	0.32391	N	0.553266	D	0.69078	0.997	D	0.63597	0.916	D	0.83742	0.0204	10	0.52906	T	0.07	-0.8435	8.3681	0.32399	0.91:0.0:0.09:0.0	.	375	P78412	IRX6_HUMAN	R	375	ENSP00000290552:S375R	ENSP00000290552:S375R	S	+	1	0	IRX6	53920514	0.932000	0.31603	0.986000	0.45419	0.538000	0.34931	1.958000	0.40402	2.016000	0.59253	0.459000	0.35465	AGT	IRX6	-	NULL	ENSG00000159387		0.637	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	-	0	71	0	A	NM_024335		55363013	1	tier1	-	no_errors	ENST00000290552	ensembl	human	known	74_37	missense	42.37	34	25	SNP	0.968	C	C	55363013	A	C	55363013	3	2	67	1	0	0	0	0	1	0	0	0	7875	72	3	4	1141	4	IRX6	16	55363013	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	4188717	55363013	34991740	230	18405											
TP53	7157	genome.wustl.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	77	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	49.18	31	30	SNP	1.000	T	T	7577538	C	T	7577538	3	4	67	1	0	0	0	0	1	0	0	0	16429	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09		7577538	73617672	231	18406											
KRTAP4-7	100132476	genome.wustl.edu	37	chr17	39240571	39240571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccacctgttgcaggaccaCctgctaccgccccagctgtt	7	8	9	17	1	0	0	0	0	0	0	0	2	0	1	7	1	4	5	7	1	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr17:39240571C>A	ENST00000391417.4	+	1	113	c.113C>A	c.(112-114)aCc>aAc	p.T38N		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	38	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCAGGACCACCTGCTACCGC	0.647																																																	0													14	23	20					17																	39240571		691	1590	2281	SO:0001583	missense	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"Keratin associated proteins"	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.113C>A	17.37:g.39240571C>A	ENSP00000375236:p.Thr38Asn		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.T38N	ENST00000391417.4	37	c.113	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	4.725	0.134798	0.09032	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01446	4.88	3.39	-1.21	0.09524	.	1.350010	0.06254	U	0.692626	T	0.01800	0.0057	.	.	.	0.24012	N	0.996179	B	0.20550	0.046	B	0.22880	0.042	T	0.48536	-0.9027	9	0.44086	T	0.13	.	7.8467	0.29428	0.1591:0.4608:0.3801:0.0	.	38	Q9BYR0	KRA47_HUMAN	N	38	ENSP00000375236:T38N	ENSP00000375236:T38N	T	+	2	0	KRTAP4-9;KRTAP4-7	36494097	0.155000	0.22806	0.048000	0.18961	0.030000	0.12068	-0.818000	0.04467	-0.524000	0.06400	0.195000	0.17529	ACC	KRTAP4-7	-	pfam_Keratin-assoc	ENSG00000240871		0.647	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	-	0	222	0	C			39240571	1	tier1	-	no_errors	ENST00000391417	ensembl	human	known	74_37	missense	28.68	184	74	SNP	0.613	A	A	39240571	C	A	39240571	3	1	67	1	0	0	0	0	1	0	0	0	8583	507	18	3	115	3	KRTAP4-7	17	39240571	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	31663033	39240571	41954639	232	18407											
AOC2	314	genome.wustl.edu	37	chr17	40997484	40997484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttaagtctggccggttgGaagtggttagagtccctcta	8	13	13	7	1	2	1	0	0	2	1	3	2	3	2	2	4	0	3	2	4	4	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr17:40997484G>T	ENST00000253799.3	+	1	868	c.841G>T	c.(841-843)Gaa>Taa	p.E281*	AOC2_ENST00000452774.2_Nonsense_Mutation_p.E281*	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	281					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGGCCGGTTGGAAGTGGTTAG	0.577																																																	0													84	85	84					17																	40997484		2203	4300	6503	SO:0001587	stop_gained	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.841G>T	17.37:g.40997484G>T	ENSP00000253799:p.Glu281*		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Nonsense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E281*	ENST00000253799.3	37	c.841	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854186	0.71719	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	.	.	.	5.75	3.74	0.42951	.	0.531595	0.20702	N	0.087259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-34.5347	4.5183	0.11947	0.2692:0.1686:0.5623:0.0	.	.	.	.	X	281	.	ENSP00000253799:E281X	E	+	1	0	AOC2	38251010	0.999000	0.42202	0.871000	0.34182	0.741000	0.42261	1.138000	0.31491	0.766000	0.33244	-0.305000	0.09177	GAA	AOC2	-	superfamily_Cu_amine_oxidase_N-reg	ENSG00000131480		0.577	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	-	0	56	0	G	NM_009590, NM_001158		40997484	1	tier1	-	no_errors	ENST00000253799	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	0.332	T	T	40997484	G	T	40997484	4	4	67	1	0	0	0	0	0	1	0	0	727	1175	41	3	843	3	AOC2	17	40997484	Nonsense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	1756913	40997484	40197726	233	18408											
HEATR6	63897	genome.wustl.edu	37	chr17	58124698	58124698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatccttggatgcttctataGctgatcgtaacattttcaag	10	16	7	8	1	2	1	1	1	1	0	4	2	3	2	1	1	3	3	1	1	5	8			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr17:58124698G>T	ENST00000184956.6	-	18	2757	c.2741C>A	c.(2740-2742)gCt>gAt	p.A914D	HEATR6_ENST00000585976.1_Missense_Mutation_p.A802D	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	914							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TGCTTCTATAGCTGATCGTAA	0.428																																																	0													275	222	240					17																	58124698		2203	4300	6503	SO:0001583	missense	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"amplified in breast cancer 1"					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2741C>A	17.37:g.58124698G>T	ENSP00000184956:p.Ala914Asp		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A914D	ENST00000184956.6	37	c.2741	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000202	0.93227	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65916	-0.18	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80308	0.4599	M	0.80616	2.505	0.49213	D	0.999766	D;D	0.89917	0.995;1.0	D;D	0.74023	0.981;0.982	T	0.81684	-0.0821	10	0.52906	T	0.07	-13.1774	18.0898	0.89471	0.0:0.0:1.0:0.0	.	649;914	E7ESB9;Q6AI08	.;HEAT6_HUMAN	D	914;649	ENSP00000184956:A914D	ENSP00000184956:A914D	A	-	2	0	HEATR6	55479480	1.000000	0.71417	0.976000	0.42696	0.989000	0.77384	9.242000	0.95408	2.588000	0.87417	0.579000	0.79373	GCT	HEATR6	-	superfamily_ARM-type_fold	ENSG00000068097		0.428	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	-	0	81	0	G	NM_022070		58124698	-1	tier1	-	no_errors	ENST00000184956	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	58124698	G	T	58124698	3	4	67	1	0	0	0	0	1	0	0	0	7060	971	34	3	816	3	HEATR6	17	58124698	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	17127214	58124698	23070512	234	18409											
AXIN2	8313	genome.wustl.edu	37	chr17	63531788	63531788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagggtgtggctcccgtCtgaacagtggccgaatgatt	9	9	15	8	2	1	3	0	2	1	1	2	5	2	3	2	3	1	1	2	3	3	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr17:63531788C>A	ENST00000375702.5	-	7	2106	c.1998G>T	c.(1996-1998)caG>caT	p.Q666H	AXIN2_ENST00000307078.5_Missense_Mutation_p.Q731H			Q9Y2T1	AXIN2_HUMAN	axin 2	731					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGGCTCCCGTCTGAACAGTGG	0.532									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0													97	75	82					17																	63531788		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1998G>T	17.37:g.63531788C>A	ENSP00000364854:p.Gln666His		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.Q731H	ENST00000375702.5	37	c.2193		17	.	.	.	.	.	.	.	.	.	.	C	4.971	0.180407	0.09443	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.66099	-0.19;-0.16	5.28	1.78	0.24846	.	0.626629	0.16924	N	0.193970	T	0.41926	0.1180	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.14144	-1.0483	10	0.34782	T	0.22	-12.8966	2.9895	0.05979	0.1918:0.5288:0.1211:0.1583	.	731;666	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	H	731;666	ENSP00000302625:Q731H;ENSP00000364854:Q666H	ENSP00000302625:Q731H	Q	-	3	2	AXIN2	60962250	0.008000	0.16893	0.453000	0.27007	0.156000	0.22039	0.044000	0.13992	1.234000	0.43709	0.655000	0.94253	CAG	AXIN2	-	NULL	ENSG00000168646		0.532	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	-	0	25	0	C	NM_004655		63531788	-1	tier1	-	no_errors	ENST00000307078	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.009	A	A	63531788	C	A	63531788	3	1	67	1	0	0	0	0	1	0	0	0	1238	912	32	3	350	3	AXIN2	17	63531788	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	5407090	63531788	17663422	235	18410											
KIF19	124602	genome.wustl.edu	37	chr17	72349029	72349029	+	Missense_Mutation	SNP	A	A	C																															attctgacctggagagtgtgAagacattgagctctgatgcc																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr17:72349029A>C	ENST00000389916.4	+	15	2188	c.2050A>C	c.(2050-2052)Aag>Cag	p.K684Q	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	684					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGAGTGTGAAGACATTGAG	0.617																																																	0													102	110	107					17																	72349029		2020	4190	6210	SO:0001583	missense	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2050A>C	17.37:g.72349029A>C	ENSP00000374566:p.Lys684Gln		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.K684Q	ENST00000389916.4	37	c.2050	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002414	0.35320	.	.	ENSG00000196169	ENST00000389916	T	0.72835	-0.69	5.08	5.08	0.68730	.	.	.	.	.	T	0.67636	0.2914	L	0.53249	1.67	0.27139	N	0.961697	B	0.18863	0.031	B	0.19148	0.024	T	0.61535	-0.7043	9	0.49607	T	0.09	.	14.1689	0.65495	1.0:0.0:0.0:0.0	.	684	Q2TAC6	KIF19_HUMAN	Q	684	ENSP00000374566:K684Q	ENSP00000374566:K684Q	K	+	1	0	KIF19	69860624	1.000000	0.71417	0.993000	0.49108	0.281000	0.26958	2.781000	0.47750	2.044000	0.60594	0.374000	0.22700	AAG	KIF19	-	NULL	ENSG00000196169		0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	-	0	37	0	A	NM_153209		72349029	1	tier1	-	no_errors	ENST00000389916	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	C	C	72349029	A	C	72349029	3	2	67	1	0	0	0	0	1	0	0	0	8309	247	9	4	2108	4	KIF19	17	72349029	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	8817241	72349029	8846181	236	18411	76	2									
KIF19	124602	genome.wustl.edu	37	chr17	72349038	72349038	+	Missense_Mutation	SNP	A	A	C																															tggagagtgtgaagacattgAgctctgatgcccagcacctg																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr17:72349038A>C	ENST00000389916.4	+	15	2197	c.2059A>C	c.(2059-2061)Agc>Cgc	p.S687R	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	687					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGACATTGAGCTCTGATGC	0.627																																																	0													96	103	101					17																	72349038		2018	4189	6207	SO:0001583	missense	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2059A>C	17.37:g.72349038A>C	ENSP00000374566:p.Ser687Arg		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.S687R	ENST00000389916.4	37	c.2059	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	A	11.94	1.790035	0.31685	.	.	ENSG00000196169	ENST00000389916	T	0.70869	-0.52	4.55	1.07	0.20283	.	.	.	.	.	T	0.54481	0.1861	L	0.46157	1.445	0.09310	N	1	B	0.23735	0.09	B	0.18263	0.021	T	0.33111	-0.9881	9	0.14656	T	0.56	.	3.3662	0.07204	0.4474:0.2137:0.3389:0.0	.	687	Q2TAC6	KIF19_HUMAN	R	687	ENSP00000374566:S687R	ENSP00000374566:S687R	S	+	1	0	KIF19	69860633	0.015000	0.18098	0.000000	0.03702	0.029000	0.11900	0.930000	0.28858	0.336000	0.23639	-0.475000	0.04921	AGC	KIF19	-	NULL	ENSG00000196169		0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	-	0	33	0	A	NM_153209		72349038	1	tier1	-	no_errors	ENST00000389916	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.119	C	C	72349038	A	C	72349038	3	2	67	1	0	0	0	0	1	0	0	0	8309	304	11	4	2117	4	KIF19	17	72349038	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	9	72349038	8846172	237	18412	76	2									
L3MBTL4	91133	genome.wustl.edu	37	chr18	6171916	6171916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccacccagtagtcatacTtatggtcccaaccatcaaaa	13	9	4	15	0	2	0	2	0	0	0	4	0	4	0	5	1	2	1	5	1	6	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr18:6171916T>G	ENST00000284898.6	-	13	1207	c.1007A>C	c.(1006-1008)aAg>aCg	p.K336T	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.K149T|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.K336T|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.K336T|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.K336T	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	336					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTAGTCATACTTATGGTCCCA	0.418																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													82	65	71					18																	6171916		2197	4286	6483	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1007A>C	18.37:g.6171916T>G	ENSP00000284898:p.Lys336Thr		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.K336T	ENST00000284898.6	37	c.1007	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054891	0.36277	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.4	3.01	0.34805	.	0.077917	0.52532	D	0.000080	T	0.19046	0.0457	L	0.32530	0.975	0.36388	D	0.862313	B;B	0.30973	0.302;0.028	B;B	0.30401	0.115;0.07	T	0.15665	-1.0429	10	0.15952	T	0.53	.	7.0507	0.25071	0.0:0.1797:0.0:0.8203	.	336;336	Q8NA19;F8W9S8	LMBL4_HUMAN;.	T	336;336;336;149;336	ENSP00000382976:K336T;ENSP00000318543:K336T;ENSP00000284898:K336T;ENSP00000444774:K149T;ENSP00000382975:K336T	ENSP00000284898:K336T	K	-	2	0	L3MBTL4	6161916	0.932000	0.31603	0.619000	0.29118	0.891000	0.51852	1.449000	0.35123	0.369000	0.24510	0.528000	0.53228	AAG	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.418	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	42	0	T	NM_173464		6171916	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	23.81	32	10	SNP	0.999	G	G	6171916	T	G	6171916	3	3	67	1	0	0	0	0	1	0	0	0	8622	1609	56	4	896	4	L3MBTL4	18	6171916	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09		6171916	71905332	238	18413											
SEH1L	81929	genome.wustl.edu	37	chr18	12955489	12955489	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatctgtatggcgtgtgAcatgggcccatcctgaattt	7	13	13	8	1	1	2	0	2	1	0	2	3	2	3	2	3	0	1	2	3	2	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr18:12955489A>C	ENST00000262124.11	+	3	317	c.190A>C	c.(190-192)Aca>Cca	p.T64P	SEH1L_ENST00000399892.2_Missense_Mutation_p.T64P	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	64					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						ATGGCGTGTGACATGGGCCCA	0.398																																																	0													179	158	165					18																	12955489		2203	4300	6503	SO:0001583	missense	0			BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"WD repeat domain containing"	30379	protein-coding gene	gene with protein product	"sec13 like protein", "nucleoporin Seh1"	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.190A>C	18.37:g.12955489A>C	ENSP00000262124:p.Thr64Pro		A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T64P	ENST00000262124.11	37	c.190	CCDS45832.1	18	.	.	.	.	.	.	.	.	.	.	A	27.1	4.801517	0.90538	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.60672	0.17;0.17	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	L	0.60904	1.88	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.71184	0.972;0.964	T	0.74922	-0.3499	10	0.66056	D	0.02	-16.5674	15.7802	0.78255	1.0:0.0:0.0:0.0	.	64;64	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	P	64	ENSP00000382779:T64P;ENSP00000262124:T64P	ENSP00000262124:T64P	T	+	1	0	SEH1L	12945489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.876000	0.92379	2.125000	0.65367	0.482000	0.46254	ACA	SEH1L	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085415		0.398	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEH1L	HGNC	protein_coding	OTTHUMT00000458254.1	-	0	61	0	A	NM_031216		12955489	1	tier1	-	no_errors	ENST00000399892	ensembl	human	known	74_37	missense	44.57	51	41	SNP	1.000	C	C	12955489	A	C	12955489	3	2	67	1	0	0	0	0	1	0	0	0	14054	275	10	4	200	4	SEH1L	18	12955489	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	6783573	12955489	65121759	239	18414											
POTEC	388468	genome.wustl.edu	37	chr18	14537832	14537832	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaatatcagcaccatataAgagcagtgctttggccatta	13	12	7	9	0	2	1	2	0	0	1	2	1	2	1	2	1	3	3	2	1	5	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr18:14537832A>G	ENST00000358970.5	-	3	777	c.778T>C	c.(778-780)Tta>Cta	p.L260L	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	260										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCACCATATAAGAGCAGTGCT	0.358																																																	0													177	141	152					18																	14537832		692	1591	2283	SO:0001819	synonymous_variant	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.778T>C	18.37:g.14537832A>G				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L260	ENST00000358970.5	37	c.778	CCDS45835.1	18																																																																																			POTEC	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000183206		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0	235	0	A	XM_496269		14537832	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	silent	20.07	243	61	SNP	0.041	G	G	14537832	A	G	14537832	2	3	67	1	0	0	0	0	0	0	0	1	12301	69	3	4		4	POTEC	18	14537832	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	1582343	14537832	63539416	240	18415											
C18orf34	374864	genome.wustl.edu	37	chr18	30928927	30928927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttcaggtcttttgtggaAgaagttctgctcctatataa	9	17	8	7	0	4	1	1	0	3	1	5	2	5	2	1	2	1	2	1	2	5	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr18:30928927A>G	ENST00000383096.3	-	8	566	c.384T>C	c.(382-384)tcT>tcC	p.S128S	CCDC178_ENST00000406524.2_Silent_p.S128S|CCDC178_ENST00000300227.8_Silent_p.S128S|CCDC178_ENST00000579947.1_Silent_p.S128S|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000583930.1_Silent_p.S128S|CCDC178_ENST00000403303.1_Silent_p.S128S|CCDC178_ENST00000402325.1_Silent_p.S128S			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	128																	CTTTTGTGGAAGAAGTTCTGC	0.343																																																	0													129	111	117					18																	30928927		2202	4300	6502	SO:0001819	synonymous_variant	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 34"	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.384T>C	18.37:g.30928927A>G			A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	NULL	p.S128	ENST00000383096.3	37	c.384	CCDS42424.1	18																																																																																			CCDC178	-	NULL	ENSG00000166960		0.343	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	-	0	35	0	A	NM_198995		30928927	-1	tier1	-	no_errors	ENST00000406524	ensembl	human	known	74_37	silent	16.22	31	6	SNP	0.028	G	G	30928927	A	G	30928927	2	3	67	1	0	0	0	0	0	0	0	1	1909	59	3	4		4	C18orf34	18	30928927	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	16391095	30928927	47148321	241	18416											
NOL4	8715	genome.wustl.edu	37	chr18	31537451	31537451	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgggaccattcggtccaAgttttcatctacaaacagcc	11	11	8	11	1	2	0	1	0	1	0	4	2	3	1	3	2	3	1	3	2	3	5	rs267605178		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr18:31537451A>T	ENST00000261592.5	-	8	1564	c.1267T>A	c.(1267-1269)Ttg>Atg	p.L423M	NOL4_ENST00000535475.1_Intron|NOL4_ENST00000269185.4_Intron|NOL4_ENST00000589544.1_Intron|NOL4_ENST00000538587.1_Missense_Mutation_p.L349M|NOL4_ENST00000535384.1_Missense_Mutation_p.L138M	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	423						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.L423L(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATTCGGTCCAAGTTTTCATCT	0.493																																																	1	Substitution - coding silent(1)	lung(1)											83	69	74					18																	31537451		2203	4300	6503	SO:0001583	missense	0			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"cancer/testis antigen 125"	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1267T>A	18.37:g.31537451A>T	ENSP00000261592:p.Leu423Met		B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.L423M	ENST00000261592.5	37	c.1267	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	A	16.54	3.150510	0.57151	.	.	ENSG00000101746	ENST00000261592;ENST00000535384;ENST00000538587	T;T	0.80304	-1.36;-1.36	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000009	D	0.89210	0.6650	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.90043	0.4143	10	0.72032	D	0.01	-8.6425	16.5149	0.84297	1.0:0.0:0.0:0.0	.	349;423	B4DSQ0;O94818	.;NOL4_HUMAN	M	423;138;349	ENSP00000445733:L138M;ENSP00000443472:L349M	ENSP00000261592:L423M	L	-	1	2	NOL4	29791449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.940000	0.63533	2.302000	0.77476	0.477000	0.44152	TTG	NOL4	-	NULL	ENSG00000101746		0.493	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	-	0	47	0	A	NM_003787		31537451	-1	tier1	-	no_errors	ENST00000261592	ensembl	human	known	74_37	missense	57.69	22	30	SNP	1.000	T	T	31537451	A	T	31537451	3	4	67	1	0	0	0	0	1	0	0	0	10563	69	3	5	665	5	NOL4	18	31537451	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	608524	31537451	46539797	242	18417											
SETBP1	26040	genome.wustl.edu	37	chr18	42618501	42618501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagcagtgcatagtaagaAcgaaggctcagtgcccacca	14	5	11	11	1	1	1	1	0	0	1	1	3	1	1	2	1	4	4	2	1	4	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr18:42618501A>C	ENST00000282030.5	+	5	4348	c.4052A>C	c.(4051-4053)aAc>aCc	p.N1351T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1351						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATAGTAAGAACGAAGGCTCA	0.483									Schinzel-Giedion syndrome																																								0													190	151	164					18																	42618501		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4052A>C	18.37:g.42618501A>C	ENSP00000282030:p.Asn1351Thr		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.N1351T	ENST00000282030.5	37	c.4052	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	10.71	1.427955	0.25726	.	.	ENSG00000152217	ENST00000282030	T	0.68479	-0.33	5.84	0.16	0.14972	.	0.486041	0.23714	N	0.045292	T	0.44222	0.1283	N	0.19112	0.55	0.24306	N	0.995104	B	0.17038	0.02	B	0.21360	0.034	T	0.20075	-1.0286	10	0.26408	T	0.33	.	6.3652	0.21451	0.4545:0.0:0.4142:0.1313	.	1351	Q9Y6X0	SETBP_HUMAN	T	1351	ENSP00000282030:N1351T	ENSP00000282030:N1351T	N	+	2	0	SETBP1	40872499	0.001000	0.12720	0.995000	0.50966	0.381000	0.30169	-0.300000	0.08243	-0.179000	0.10654	0.528000	0.53228	AAC	SETBP1	-	NULL	ENSG00000152217		0.483	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	73	0	A	NM_001130110		42618501	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.985	C	C	42618501	A	C	42618501	3	2	67	1	0	0	0	0	1	0	0	0	14174	43	2	4	4259	4	SETBP1	18	42618501	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	11081050	42618501	35458747	243	18418											
MUC16	94025	genome.wustl.edu	37	chr19	9059054	9059054	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatagaggtgaaaagagaAgtgacagggacaggagagga	18	4	17	2	0	0	6	0	3	0	3	0	10	0	8	0	4	0	0	0	4	4	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:9059054A>C	ENST00000397910.4	-	3	28595	c.28392T>G	c.(28390-28392)acT>acG	p.T9464T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9466	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAAAGAGAAGTGACAGGGA	0.483																																																	0													109	107	108					19																	9059054		2006	4187	6193	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28392T>G	19.37:g.9059054A>C			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T9464	ENST00000397910.4	37	c.28392	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	84	0	A	NM_024690		9059054	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	8.42	87	8	SNP	0.000	C	C	9059054	A	C	9059054	2	2	67	1	0	0	0	0	0	0	0	1	10011	59	3	4		4	MUC16	19	9059054	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		9059054	50069929	244	18419											
MUC16	94025	genome.wustl.edu	37	chr19	9085711	9085711	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtggaatccaaggattcaAgtgaggctgaggaatatgga	13	10	14	4	0	1	2	1	2	0	0	2	6	2	6	1	5	0	1	1	5	5	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:9085711A>C	ENST00000397910.4	-	1	6307	c.6104T>G	c.(6103-6105)cTt>cGt	p.L2035R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2035	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAGGATTCAAGTGAGGCTGA	0.483																																																	0													137	131	133					19																	9085711		1996	4172	6168	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6104T>G	19.37:g.9085711A>C	ENSP00000381008:p.Leu2035Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L2035R	ENST00000397910.4	37	c.6104	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	0.510	-0.867004	0.02590	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	0.235	0.235	0.15431	.	.	.	.	.	T	0.05273	0.0140	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.68039	0.955	T	0.41466	-0.9507	7	0.87932	D	0	.	.	.	.	.	2035	B5ME49	.	R	2035	ENSP00000381008:L2035R	ENSP00000381008:L2035R	L	-	2	0	MUC16	8946711	0.001000	0.12720	0.029000	0.17559	0.030000	0.12068	-0.661000	0.05311	0.263000	0.21812	0.260000	0.18958	CTT	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	85	0	A	NM_024690		9085711	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	19.23	63	15	SNP	0.036	C	C	9085711	A	C	9085711	3	2	67	1	0	0	0	0	1	0	0	0	10011	72	3	4	37755	4	MUC16	19	9085711	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	26657	9085711	50043272	245	18420											
MUC16	94025	genome.wustl.edu	37	chr19	9086530	9086530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgctgccccctatgAattccacatcaggagttgta	12	11	8	10	0	1	1	1	1	0	0	2	2	2	2	3	1	2	3	3	1	5	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:9086530A>C	ENST00000397910.4	-	1	5488	c.5285T>G	c.(5284-5286)tTc>tGc	p.F1762C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1762	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCCTATGAATTCCACATC	0.507																																																	0													113	106	108					19																	9086530		1963	4145	6108	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5285T>G	19.37:g.9086530A>C	ENSP00000381008:p.Phe1762Cys		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.F1762C	ENST00000397910.4	37	c.5285	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	0.813	-0.751411	0.03041	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.07	-0.0832	0.13695	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	.	.	.	D	0.53462	0.96	B	0.41299	0.353	T	0.46735	-0.9170	8	0.87932	D	0	.	3.0076	0.06033	0.6907:0.0:0.3093:0.0	.	1762	B5ME49	.	C	1762	ENSP00000381008:F1762C	ENSP00000381008:F1762C	F	-	2	0	MUC16	8947530	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.441000	0.06879	-0.092000	0.12417	0.260000	0.18958	TTC	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	36	0	A	NM_024690		9086530	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.000	C	C	9086530	A	C	9086530	3	2	67	1	0	0	0	0	1	0	0	0	10011	246	9	4	38574	4	MUC16	19	9086530	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	819	9086530	50042453	246	18421											
CACNA1A	773	genome.wustl.edu	37	chr19	13325067	13325067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcctcgcgcatggcctGcagcttcttggccttgctct	2	13	10	16	2	2	0	0	0	2	0	4	0	3	0	3	2	4	5	3	2	0	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:13325067G>T	ENST00000360228.5	-	40	5919	c.5920C>A	c.(5920-5922)Cag>Aag	p.Q1974K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Q1975K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1975					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCATGGCCTGCAGCTTCTTG	0.612																																																	0													35	39	37					19																	13325067		2182	4278	6460	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5920C>A	19.37:g.13325067G>T	ENSP00000353362:p.Gln1974Lys		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.Q1974K	ENST00000360228.5	37	c.5920	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889126	0.52014	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	T	0.64991	-0.13	4.72	4.72	0.59763	Voltage-dependent calcium channel, alpha-1 subunit, IQ domain (1);	0.000000	0.64402	D	0.000001	T	0.72137	0.3423	L	0.40543	1.245	0.53688	D	0.999971	B;B;D;B	0.53885	0.387;0.175;0.963;0.21	B;B;D;B	0.71414	0.345;0.234;0.973;0.345	T	0.75473	-0.3305	10	0.72032	D	0.01	.	16.4549	0.84009	0.0:0.0:1.0:0.0	.	1975;1980;1974;1975	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	K	1974;1980;1975;1975	ENSP00000353362:Q1974K	ENSP00000317661:Q1975K	Q	-	1	0	CACNA1A	13186067	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.326000	0.96389	2.184000	0.69523	0.491000	0.48974	CAG	CACNA1A	-	pfam_VDCC_a1su_IQ	ENSG00000141837		0.612	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	43	0	G	NM_000068		13325067	-1			no_errors	ENST00000360228	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	13325067	G	T	13325067	3	4	67	1	0	0	0	0	1	0	0	0	2545	1328	46	3	1632	3	CACNA1A	19	13325067	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	4238537	13325067	45803916	247	18422											
UPF1	5976	genome.wustl.edu	37	chr19	18972934	18972934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaaatgaccccaggcGtctgaacgtggccctgacca	9	10	9	13	2	1	3	0	3	1	0	1	3	1	3	4	2	1	0	4	2	3	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:18972934G>T	ENST00000599848.1	+	18	2815	c.2606G>T	c.(2605-2607)cGt>cTt	p.R869L	UPF1_ENST00000262803.5_Missense_Mutation_p.R858L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	869					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GACCCCAGGCGTCTGAACGTG	0.597																																																	0													92	81	85					19																	18972934		2203	4300	6503	SO:0001583	missense	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2606G>T	19.37:g.18972934G>T	ENSP00000470142:p.Arg869Leu		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase	p.R869L	ENST00000599848.1	37	c.2606		19	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648802	0.67358	.	.	ENSG00000005007	ENST00000262803	D	0.95853	-3.83	5.06	5.06	0.68205	.	0.111999	0.64402	D	0.000008	D	0.98858	0.9614	H	0.99726	4.73	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.70487	0.969;0.948	D	0.99136	1.0854	10	0.87932	D	0	-26.204	15.5613	0.76249	0.0:0.0:1.0:0.0	.	869;858	Q92900;Q92900-2	RENT1_HUMAN;.	L	858	ENSP00000262803:R858L	ENSP00000262803:R858L	R	+	2	0	UPF1	18833934	1.000000	0.71417	0.544000	0.28141	0.063000	0.16089	9.396000	0.97270	2.341000	0.79615	0.563000	0.77884	CGT	UPF1	-	superfamily_P-loop_NTPase	ENSG00000005007		0.597	UPF1-002	KNOWN	basic	protein_coding	UPF1	HGNC	protein_coding	OTTHUMT00000464684.1		0	33	0	G	NM_002911		18972934	1			no_errors	ENST00000599848	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	18972934	G	T	18972934	3	4	67	1	0	0	0	0	1	0	0	0	17052	1145	40	2	2643	2	UPF1	19	18972934	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	5647867	18972934	40156049	248	18423											
ZNF43	7594	genome.wustl.edu	37	chr19	21991811	21991811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccacattcttcacatGtgtagggtttctctccagta	7	16	7	11	0	3	0	1	0	2	0	5	0	4	0	2	1	1	3	2	1	2	6	rs149679417		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:21991811G>T	ENST00000354959.4	-	4	1197	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	ZNF43_ENST00000594012.1_Missense_Mutation_p.T337K|ZNF43_ENST00000598381.1_Missense_Mutation_p.T337K|ZNF43_ENST00000595461.1_Missense_Mutation_p.T337K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTCACATGTGTAGGGTTT	0.383																																																	0																																										SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1028C>A	19.37:g.21991811G>T	ENSP00000347045:p.Thr343Lys		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T343K	ENST00000354959.4	37	c.1028	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.412760	0.00191	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.35973	1.28	1.76	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09423	0.0232	N	0.01122	-1.005	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34625	-0.9821	9	0.02654	T	1	.	8.658	0.34075	0.0:0.0:0.6228:0.3772	.	343	P17038	ZNF43_HUMAN	K	342;343	ENSP00000347045:T343K	ENSP00000347045:T343K	T	-	2	0	ZNF43	21783651	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.438000	0.01017	-0.689000	0.05149	-0.856000	0.03024	ACA	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.383	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2		0	54	0	G	NM_003423		21991811	-1			no_errors	ENST00000354959	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.000	T	T	21991811	G	T	21991811	3	4	67	1	0	0	0	0	1	0	0	0	17951	1377	48	3	1405	3	ZNF43	19	21991811	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	3018877	21991811	37137172	249	18424											
ZNF208	7757	genome.wustl.edu	37	chr19	22157155	22157155	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattctttacatctgtagggTttctctccagtatgagcact	8	16	7	10	0	3	1	0	1	3	0	5	1	4	1	1	1	2	4	1	1	3	6	rs61748342	byFrequency	TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:22157155T>A	ENST00000397126.4	-	4	829	c.681A>T	c.(679-681)aaA>aaT	p.K227N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATCTGTAGGGTTTCTCTCCAG	0.363																																																	0													52	57	55					19																	22157155		2097	4235	6332	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.681A>T	19.37:g.22157155T>A	ENSP00000380315:p.Lys227Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K227N	ENST00000397126.4	37	c.681	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154999	0.38021	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.26067	1.76	2.93	-2.37	0.06643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17831	0.0428	.	.	.	0.09310	N	1	B	0.29909	0.261	B	0.32090	0.14	T	0.31971	-0.9924	8	0.87932	D	0	.	5.191	0.15209	0.0:0.5176:0.1803:0.3021	.	227	O43345	ZN208_HUMAN	N	227	ENSP00000380315:K227N	ENSP00000380315:K227N	K	-	3	2	ZNF208	21948995	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.341000	0.07811	-0.369000	0.08028	-0.736000	0.03550	AAA	ZNF208	-	pfscan_Znf_C2H2	ENSG00000160321		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	37	0	T	NM_007153		22157155	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	29.41	36	15	SNP	0.030	A	A	22157155	T	A	22157155	3	1	67	1	0	0	0	0	1	0	0	0	17814	1722	60	5	3165	5	ZNF208	19	22157155	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	165344	22157155	36971828	250	18425											
ZNF536	9745	genome.wustl.edu	37	chr19	31040352	31040352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcctacagttctgatggcTtagcagcctttaacggactt	8	12	11	10	1	1	1	0	1	1	0	1	2	1	2	2	3	4	3	2	3	3	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:31040352T>A	ENST00000355537.3	+	4	3973	c.3826T>A	c.(3826-3828)Tta>Ata	p.L1276I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1276					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCTGATGGCTTAGCAGCCTT	0.542																																																	0													43	42	42					19																	31040352		2187	4278	6465	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3826T>A	19.37:g.31040352T>A	ENSP00000347730:p.Leu1276Ile		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1276I	ENST00000355537.3	37	c.3826	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	T	14.36	2.511126	0.44660	.	.	ENSG00000198597	ENST00000355537	T	0.18016	2.24	5.01	2.91	0.33838	.	0.000000	0.64402	D	0.000001	T	0.11879	0.0289	L	0.32530	0.975	0.40673	D	0.982233	P;P	0.48294	0.908;0.908	B;B	0.41860	0.368;0.368	T	0.08953	-1.0697	10	0.66056	D	0.02	-8.1493	4.6929	0.12790	0.1389:0.1522:0.0:0.7089	.	1276;1276	A7E228;O15090	.;ZN536_HUMAN	I	1276	ENSP00000347730:L1276I	ENSP00000347730:L1276I	L	+	1	2	ZNF536	35732192	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	2.187000	0.42602	0.246000	0.21394	-0.297000	0.09499	TTA	ZNF536	-	NULL	ENSG00000198597		0.542	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	19	0	T	NM_014717		31040352	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	41.18	10	7	SNP	1.000	A	A	31040352	T	A	31040352	3	1	67	1	0	0	0	0	1	0	0	0	18022	1606	56	5	3836	5	ZNF536	19	31040352	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	8883197	31040352	28088631	251	18426											
ZNF568	374900	genome.wustl.edu	37	chr19	37440578	37440578	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttacttcaagacaaagcTtctatgactgtgactcactt	11	15	6	9	0	3	3	2	2	1	1	3	3	3	3	0	0	2	2	0	0	4	6			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:37440578T>G	ENST00000333987.7	+	7	1029	c.523T>G	c.(523-525)Ttc>Gtc	p.F175V	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.F111V|ZNF568_ENST00000455427.2_Intron	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGACAAAGCTTCTATGACTG	0.338																																																	0													98	90	93					19																	37440578		1849	4096	5945	SO:0001583	missense	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"Zinc fingers, C2H2-type", "-"	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.523T>G	19.37:g.37440578T>G	ENSP00000334685:p.Phe175Val		B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F175V	ENST00000333987.7	37	c.523	CCDS42558.1	19	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.862372	0.00552	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.06933	3.24;3.24	4.25	0.926	0.19430	.	0.412447	0.18033	N	0.153853	T	0.04227	0.0117	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43556	-0.9384	10	0.17369	T	0.5	.	2.9966	0.06000	0.1904:0.3236:0.0:0.4859	.	175	Q3ZCX4	ZN568_HUMAN	V	175;111	ENSP00000334685:F175V;ENSP00000394514:F111V	ENSP00000334685:F175V	F	+	1	0	ZNF568	42132418	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.113000	0.15499	-0.006000	0.14370	-0.333000	0.08304	TTC	ZNF568	-	NULL	ENSG00000198453		0.338	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000109572.2	-	0	48	0	T	NM_198539		37440578	1	tier1	-	no_errors	ENST00000333987	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.002	G	G	37440578	T	G	37440578	3	3	67	1	0	0	0	0	1	0	0	0	18047	1609	56	4	541	4	ZNF568	19	37440578	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	6400226	37440578	21688405	252	18427											
C19orf54	284325	genome.wustl.edu	37	chr19	41255500	41255500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggccgaagacatgaCggggagcaggccctgtggca	9	5	15	12	2	1	2	0	1	1	1	2	4	1	3	3	5	1	2	3	5	1	0	rs2254343	byFrequency	TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:41255500C>T	ENST00000378313.2	-	1	328	c.209G>A	c.(208-210)cGt>cAt	p.R70H	C19orf54_ENST00000339153.3_5'UTR|C19orf54_ENST00000598729.1_5'UTR|C19orf54_ENST00000470681.1_5'UTR|SNRPA_ENST00000243563.3_5'Flank|C19orf54_ENST00000598485.2_5'UTR	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	70				R -> P (in Ref. 3; BC020262). {ECO:0000305}.						breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAAGACATGACGGGGAGCAGG	0.617																																																	0													22	29	27					19																	41255500		692	1591	2283	SO:0001583	missense	0			AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.209G>A	19.37:g.41255500C>T	ENSP00000367564:p.Arg70His		A8MSZ5|B4DNU7	Missense_Mutation	SNP	NULL	p.R70H	ENST00000378313.2	37	c.209	CCDS12564.2	19	.	.	.	.	.	.	.	.	.	.	G	36	5.611658	0.96637	.	.	ENSG00000188493	ENST00000378313	.	.	.	4.59	4.59	0.56863	.	0.770143	0.10066	U	0.720321	T	0.29652	0.0740	N	0.08118	0	0.09310	P	0.9999999999999999	B	0.24368	0.102	B	0.08055	0.003	T	0.30880	-0.9963	8	0.72032	D	0.01	-3.7994	10.7158	0.46011	0.0:0.1929:0.8071:0.0	.	70	Q5BKX5	CS054_HUMAN	H	70	.	ENSP00000367564:R70H	R	-	2	0	C19orf54	45947340	1.000000	0.71417	0.997000	0.53966	0.836000	0.47400	2.689000	0.46993	1.160000	0.42584	-0.120000	0.15030	CGT	C19orf54	-	NULL	ENSG00000188493		0.617	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf54	HGNC	protein_coding	OTTHUMT00000316701.1	-	0	48	0	C	NM_198476		41255500	-1	tier1	-	no_errors	ENST00000378313	ensembl	human	known	74_37	missense	30.77	19	28	SNP	1.000	T	T	41255500	C	T	41255500	3	4	67	1	0	0	0	0	1	0	0	0	1943	536	19	1	870	1	C19orf54	19	41255500	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	3814922	41255500	17873483	253	18428											
PVR	5817	genome.wustl.edu	37	chr19	45162124	45162124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttatttctattggtccaAatgttcccgtgaggtccttt	7	18	8	8	1	1	1	0	1	1	0	4	2	4	1	3	2	0	1	3	2	3	7	rs149458939	byFrequency	TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:45162124A>G	ENST00000425690.3	+	6	1405	c.1106A>G	c.(1105-1107)aAa>aGa	p.K369R	PVR_ENST00000406449.4_Missense_Mutation_p.K369R|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Intron|PVR_ENST00000344956.4_Intron	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	369	DYNLT1 binding.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TATTGGTCCAAATGTTCCCGT	0.517																																																	0								A	,,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	178	165	170		,,1106,1106	-4	0	19	dbSNP_134	170	5,8595	4.3+/-15.6	0,5,4295	yes	intron,intron,missense,missense	PVR	NM_001135768.1,NM_001135769.1,NM_001135770.1,NM_006505.3	,,26,26	0,6,6497	GG,GA,AA		0.0581,0.0227,0.0461	,,benign,benign	,,369/393,369/418	45162124	6,13000	2203	4300	6503	SO:0001583	missense	0			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9705	protein-coding gene	gene with protein product	"nectin-like 5"	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1106A>G	19.37:g.45162124A>G	ENSP00000402060:p.Lys369Arg		B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K369R	ENST00000425690.3	37	c.1106	CCDS12640.1	19	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.759518	0.00657	2.27E-4	5.81E-4	ENSG00000073008	ENST00000425690;ENST00000406449	D;D	0.88046	-2.22;-2.33	2.65	-3.96	0.04106	.	10.338700	0.00702	N	0.000784	T	0.61937	0.2387	N	0.00801	-1.175	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.66344	-0.5947	10	0.06757	T	0.87	.	7.9494	0.30006	0.6606:0.0:0.3394:0.0	.	369;369	P15151-4;P15151	.;PVR_HUMAN	R	369	ENSP00000402060:K369R;ENSP00000383907:K369R	ENSP00000383907:K369R	K	+	2	0	PVR	49853964	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.511000	0.06321	-0.818000	0.04329	-1.033000	0.02402	AAA	PVR	-	NULL	ENSG00000073008		0.517	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	HGNC	protein_coding	OTTHUMT00000323017.2	-	0	69	0	A	NM_006505		45162124	1	tier1	rs149458939	no_errors	ENST00000425690	ensembl	human	known	74_37	missense	29.23	46	19	SNP	0.000	G	G	45162124	A	G	45162124	3	3	67	1	0	0	0	0	1	0	0	0	12882	14	1	4	1128	4	PVR	19	45162124	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3906624	45162124	13966859	254	18429											
ZNF296	162979	genome.wustl.edu	37	chr19	45575374	45575374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcagcatggacagccggctCcggaggggctgcagaggcct	8	4	17	12	2	0	1	0	0	0	1	1	3	1	3	3	6	4	5	3	6	0	0			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:45575374C>G	ENST00000303809.2	-	3	1127	c.913G>C	c.(913-915)Gag>Cag	p.E305Q		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	305					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						ACAGCCGGCTCCGGAGGGGCT	0.711																																																	0													23	30	28					19																	45575374		2176	4272	6448	SO:0001583	missense	0			BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"Zinc fingers, C2H2-type"	15981	protein-coding gene	gene with protein product		613226	"zinc finger protein 342"	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.913G>C	19.37:g.45575374C>G	ENSP00000302770:p.Glu305Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E305Q	ENST00000303809.2	37	c.913	CCDS12653.1	19	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960046	0.34565	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.04758	3.56	5.87	3.75	0.43078	.	0.481200	0.18473	N	0.140147	T	0.08935	0.0221	L	0.29908	0.895	0.24841	N	0.992461	D	0.64830	0.994	P	0.56278	0.795	T	0.10291	-1.0636	10	0.87932	D	0	-16.9039	10.5994	0.45358	0.0:0.8434:0.0:0.1566	.	305	Q8WUU4	ZN296_HUMAN	Q	305;281	ENSP00000302770:E305Q	ENSP00000302770:E305Q	E	-	1	0	ZNF296	50267214	0.001000	0.12720	0.565000	0.28409	0.107000	0.19398	1.391000	0.34475	0.822000	0.34565	0.563000	0.77884	GAG	ZNF296	-	NULL	ENSG00000170684		0.711	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF296	HGNC	protein_coding	OTTHUMT00000457529.1	-	0	31	0	C	NM_145288		45575374	-1	tier1	-	no_errors	ENST00000303809	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.851	G	G	45575374	C	G	45575374	3	3	67	1	0	0	0	0	1	0	0	0	17876	864	30	5	518	5	ZNF296	19	45575374	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	413250	45575374	13553609	255	18430											
CCDC61	729440	genome.wustl.edu	37	chr19	46511520	46511520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggatggccagaacactcGggacacccgggagaatgaga	12	4	15	10	2	0	3	0	1	0	3	1	7	0	5	2	4	1	1	2	4	2	0	rs373065477		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:46511520G>A	ENST00000595358.1	+	5	561	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	CCDC61_ENST00000536603.1_Missense_Mutation_p.R171Q|CCDC61_ENST00000594087.1_Missense_Mutation_p.R171Q|CCDC61_ENST00000263284.2_Missense_Mutation_p.R228Q	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	171						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		CAGAACACTCGGGACACCCGG	0.667																																																	0								G	GLN/ARG	0,3772		0,0,1886	24	27	26		683	1.9	0.7	19		26	1,8221		0,1,4110	no	missense	CCDC61	NM_001080402.1	43	0,1,5996	AA,AG,GG		0.0122,0.0,0.0083	benign	228/532	46511520	1,11993	1886	4111	5997	SO:0001583	missense	0				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.512G>A	19.37:g.46511520G>A	ENSP00000471454:p.Arg171Gln		C8CAP4|Q9HDB6	Missense_Mutation	SNP	NULL	p.R228Q	ENST00000595358.1	37	c.683	CCDS46120.2	19	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519922	0.27211	0.0	1.22E-4	ENSG00000104983	ENST00000263284;ENST00000536603	.	.	.	4.06	1.88	0.25563	.	0.547315	0.19774	N	0.106369	T	0.21962	0.0529	N	0.22421	0.69	0.22710	N	0.998821	B	0.17268	0.021	B	0.10450	0.005	T	0.20874	-1.0262	9	0.10902	T	0.67	-10.2806	5.8324	0.18588	0.3483:0.0:0.6517:0.0	.	171	Q9Y6R9	CCD61_HUMAN	Q	228;171	.	ENSP00000263284:R228Q	R	+	2	0	CCDC61	51203360	1.000000	0.71417	0.703000	0.30354	0.663000	0.39108	2.805000	0.47939	0.472000	0.27344	-0.300000	0.09419	CGG	CCDC61	-	NULL	ENSG00000104983		0.667	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	-	0	62	0	G	NM_001080402		46511520	1	tier1	-	no_errors	ENST00000263284	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.518	A	A	46511520	G	A	46511520	3	1	67	1	0	0	0	0	1	0	0	0	2839	1116	39	1	705	1	CCDC61	19	46511520	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	936146	46511520	12617463	256	18431											
CCDC155	147872	genome.wustl.edu	37	chr19	49912535	49912535	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttggagatcgaggccattCgacaggtgggcctaacaccc	9	7	13	12	2	0	1	0	0	0	1	2	4	0	1	3	4	1	1	3	4	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:49912535C>T	ENST00000447857.3	+	14	1346	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	381						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CGAGGCCATTCGACAGGTGGG	0.597																																																	0													41	45	44					19																	49912535		2001	4176	6177	SO:0001587	stop_gained	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1141C>T	19.37:g.49912535C>T	ENSP00000404220:p.Arg381*		Q96MC3	Nonsense_Mutation	SNP	NULL	p.R381*	ENST00000447857.3	37	c.1141	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.388162	0.97529	.	.	ENSG00000161609	ENST00000447857	.	.	.	5.38	3.26	0.37387	.	1.415760	0.04622	N	0.402211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-19.2538	8.7002	0.34320	0.0:0.8369:0.0:0.1631	.	.	.	.	X	381	.	ENSP00000404220:R381X	R	+	1	2	CCDC155	54604347	0.360000	0.24964	0.064000	0.19789	0.696000	0.40369	0.813000	0.27225	0.780000	0.33566	0.585000	0.79938	CGA	CCDC155	-	NULL	ENSG00000161609		0.597	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	-	0	40	0	C	NM_144688		49912535	1	tier1	-	no_errors	ENST00000447857	ensembl	human	known	74_37	nonsense	34.09	29	15	SNP	0.139	T	T	49912535	C	T	49912535	4	4	67	1	0	0	0	0	0	1	0	0	2795	876	31	1	1191	1	CCDC155	19	49912535	Nonsense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	3401015	49912535	9216448	257	18432											
VN1R4	317703	genome.wustl.edu	37	chr19	53770563	53770563	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgggggctttctctttaAgttttgcccacctggatttc	4	17	10	10	0	1	0	0	0	1	0	3	1	1	1	2	3	1	3	2	3	1	7			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:53770563A>C	ENST00000311170.4	-	1	409	c.356T>G	c.(355-357)cTt>cGt	p.L119R	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	119					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TTTCTCTTTAAGTTTTGCCCA	0.507										HNSCC(26;0.072)																																							0													60	46	51					19																	53770563		2203	4300	6503	SO:0001583	missense	0			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.356T>G	19.37:g.53770563A>C	ENSP00000310856:p.Leu119Arg		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.L119R	ENST00000311170.4	37	c.356	CCDS33099.1	19	.	.	.	.	.	.	.	.	.	.	A	8.374	0.835983	0.16891	.	.	ENSG00000228567	ENST00000311170	T	0.10668	2.85	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27659	N	0.018382	T	0.36552	0.0971	M	0.92784	3.345	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.10894	-1.0610	10	0.87932	D	0	.	8.5532	0.33465	1.0:0.0:0.0:0.0	.	119	Q7Z5H5	VN1R4_HUMAN	R	119	ENSP00000310856:L119R	ENSP00000310856:L119R	L	-	2	0	VN1R4	58462375	0.174000	0.23070	0.012000	0.15200	0.012000	0.07955	2.107000	0.41844	1.312000	0.45043	0.445000	0.29226	CTT	VN1R4	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	ENSG00000228567		0.507	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R4	HGNC	protein_coding	OTTHUMT00000464287.1	-	0	274	0	A	NM_173857		53770563	-1	tier1	-	no_errors	ENST00000311170	ensembl	human	known	74_37	missense	21.82	215	60	SNP	0.153	C	C	53770563	A	C	53770563	3	2	67	1	0	0	0	0	1	0	0	0	17229	72	3	4	552	4	VN1R4	19	53770563	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	3858028	53770563	5358420	258	18433											
NLRP5	126206	genome.wustl.edu	37	chr19	56539475	56539475	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagcttaaacaggcaggcTtccatatccactcgctttgg	9	11	10	11	1	0	0	0	0	0	0	3	1	2	1	2	4	2	4	2	4	3	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:56539475T>G	ENST00000390649.3	+	7	1876	c.1876T>G	c.(1876-1878)Ttc>Gtc	p.F626V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	626					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAGGCAGGCTTCCATATCCA	0.552																																																	0													66	68	67					19																	56539475		1966	4140	6106	SO:0001583	missense	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1876T>G	19.37:g.56539475T>G	ENSP00000375063:p.Phe626Val		A8MTY4|Q86W29	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F626V	ENST00000390649.3	37	c.1876	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	T	0.348	-0.946627	0.02304	.	.	ENSG00000171487	ENST00000390649	T	0.72051	-0.62	2.69	-5.35	0.02697	.	.	.	.	.	T	0.44456	0.1294	L	0.36672	1.1	0.09310	N	1	B	0.31581	0.329	B	0.22386	0.039	T	0.40194	-0.9576	9	0.12103	T	0.63	.	0.719	0.00937	0.435:0.221:0.1471:0.1969	.	626	P59047	NALP5_HUMAN	V	626	ENSP00000375063:F626V	ENSP00000375063:F626V	F	+	1	0	NLRP5	61231287	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.982000	0.01489	-1.757000	0.01316	0.459000	0.35465	TTC	NLRP5	-	NULL	ENSG00000171487		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1		0	50	0	T	NM_153447		56539475	1			no_errors	ENST00000390649	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.000	G	G	56539475	T	G	56539475	3	3	67	1	0	0	0	0	1	0	0	0	10519	1609	56	4	1902	4	NLRP5	19	56539475	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	2768912	56539475	2589508	259	18434											
ZNF582	147948	genome.wustl.edu	37	chr19	56896406	56896406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgttgtctgtcaaacTggtttctgcattcccaatca	7	16	6	12	0	4	0	2	0	2	0	6	0	6	0	2	1	2	3	2	1	2	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:56896406T>C	ENST00000301310.4	-	5	538	c.380A>G	c.(379-381)cAg>cGg	p.Q127R	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Missense_Mutation_p.Q127R	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TCTGTCAAACTGGTTTCTGCA	0.413																																					Ovarian(183;1887 2032 4349 30507 51343)												0													177	171	173					19																	56896406		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.380A>G	19.37:g.56896406T>C	ENSP00000301310:p.Gln127Arg		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q127R	ENST00000301310.4	37	c.380	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	T	6.678	0.493662	0.12702	.	.	ENSG00000018869	ENST00000301310	T	0.05513	3.43	5.31	-10.6	0.00265	.	0.313555	0.18495	N	0.139527	T	0.02230	0.0069	L	0.29908	0.895	0.09310	N	1	B;B	0.29432	0.244;0.244	B;B	0.23574	0.047;0.047	T	0.31503	-0.9941	10	0.12103	T	0.63	.	3.1416	0.06457	0.1947:0.4397:0.159:0.2066	.	127;158	Q96NG8;B4DQZ9	ZN582_HUMAN;.	R	127	ENSP00000301310:Q127R	ENSP00000301310:Q127R	Q	-	2	0	ZNF582	61588218	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-7.570000	0.00034	-2.596000	0.00453	-0.438000	0.05819	CAG	ZNF582	-	NULL	ENSG00000018869		0.413	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0	98	0	T	NM_144690		56896406	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	missense	9.20	79	8	SNP	0.000	C	C	56896406	T	C	56896406	3	2	67	1	0	0	0	0	1	0	0	0	18062	1580	55	4	1177	4	ZNF582	19	56896406	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	356931	56896406	2232577	260	18435											
ZNF667	63934	genome.wustl.edu	37	chr19	56973713	56973713	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattgccacttaccttggaTttggatttcccccgtgcaga	8	13	9	11	1	0	1	0	0	0	1	1	4	1	3	4	2	3	1	4	2	2	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:56973713T>G	ENST00000504904.3	-	4	746	c.27A>C	c.(25-27)aaA>aaC	p.K9N	ZNF667_ENST00000342634.3_Missense_Mutation_p.K102N|ZNF667_ENST00000591790.1_Missense_Mutation_p.K9N|ZNF667_ENST00000292069.6_Missense_Mutation_p.K9N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTACCTTGGATTTGGATTTCC	0.532																																																	0													252	204	220					19																	56973713		2203	4300	6503	SO:0001583	missense	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.27A>C	19.37:g.56973713T>G	ENSP00000439402:p.Lys9Asn		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K102N	ENST00000504904.3	37	c.306	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	T	11.56	1.674570	0.29693	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.05649	3.41;3.46;3.46	4.21	-2.16	0.07080	Krueppel-associated box (1);	0.410133	0.17850	N	0.159882	T	0.02767	0.0083	N	0.17474	0.49	0.09310	N	1	P	0.41313	0.745	B	0.34301	0.179	T	0.49551	-0.8928	10	0.17832	T	0.49	-4.369	8.7472	0.34594	0.0:0.5148:0.0:0.4852	.	9	Q5HYK9	ZN667_HUMAN	N	102;9;9	ENSP00000344699:K102N;ENSP00000439402:K9N;ENSP00000292069:K9N	ENSP00000292069:K9N	K	-	3	2	ZNF667	61665525	0.000000	0.05858	0.002000	0.10522	0.300000	0.27592	-1.115000	0.03289	-0.529000	0.06358	0.383000	0.25322	AAA	ZNF667	-	superfamily_Krueppel-associated_box	ENSG00000198046		0.532	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	-	0	79	0	T	NM_022103		56973713	-1	tier1	-	no_errors	ENST00000342634	ensembl	human	known	74_37	missense	8.16	90	8	SNP	0.004	G	G	56973713	T	G	56973713	3	3	67	1	0	0	0	0	1	0	0	0	18122	1490	52	4	1821	4	ZNF667	19	56973713	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	77307	56973713	2155270	261	18436											
PEG3	5178	genome.wustl.edu	37	chr19	57325574	57325574	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggctcagcagcctccacTtctggctcagcagcctccac	6	10	8	17	0	3	0	2	0	1	0	5	0	5	0	4	2	4	4	4	2	0	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:57325574T>G	ENST00000326441.9	-	10	4599	c.4236A>C	c.(4234-4236)gaA>gaC	p.E1412D	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1288D|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1286D|PEG3_ENST00000423103.2_Missense_Mutation_p.E1412D|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1412	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCAG	0.587																																																	0													44	47	46					19																	57325574		2202	4294	6496	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4236A>C	19.37:g.57325574T>G	ENSP00000326581:p.Glu1412Asp		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1412D	ENST00000326441.9	37	c.4236	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	5.760	0.324543	0.10900	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02631	4.22;4.22	4.04	-8.08	0.01094	.	0.734362	0.12167	N	0.493449	T	0.01320	0.0043	N	0.14661	0.345	.	.	.	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.37033	-0.9723	9	0.28530	T	0.3	-3.3935	3.2737	0.06891	0.0913:0.1888:0.2592:0.4607	.	1288;1412;1347	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1412	ENSP00000326581:E1412D;ENSP00000403051:E1412D	ENSP00000326581:E1412D	E	-	3	2	ZIM2	62017386	0.000000	0.05858	0.000000	0.03702	0.316000	0.28119	-0.468000	0.06656	-3.438000	0.00163	-0.789000	0.03336	GAA	PEG3	-	NULL	ENSG00000198300		0.587	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	76	0	T			57325574	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	20.00	64	16	SNP	0.000	G	G	57325574	T	G	57325574	3	3	67	1	0	0	0	0	1	0	0	0	11759	1606	56	4	534	4	PEG3	19	57325574	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	351861	57325574	1803409	262	18437											
PEG3	5178	genome.wustl.edu	37	chr19	57325616	57325616	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggctcggcagcctccacTtctggctcagcagcctctac	5	10	9	17	1	4	0	1	0	3	0	6	0	5	0	3	3	4	4	3	3	1	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr19:57325616T>A	ENST00000326441.9	-	10	4557	c.4194A>T	c.(4192-4194)gaA>gaT	p.E1398D	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1274D|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E1272D|PEG3_ENST00000423103.2_Missense_Mutation_p.E1398D|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1398	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCAG	0.582																																																	0													42	44	43					19																	57325616		2199	4275	6474	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4194A>T	19.37:g.57325616T>A	ENSP00000326581:p.Glu1398Asp		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E1398D	ENST00000326441.9	37	c.4194	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	15.69	2.909474	0.52439	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02763	4.17;4.17	3.7	-2.63	0.06133	.	0.000000	0.40469	N	0.001100	T	0.02304	0.0071	L	0.32530	0.975	.	.	.	P;P;P	0.51791	0.948;0.948;0.948	P;P;P	0.46975	0.533;0.533;0.533	T	0.47459	-0.9116	9	0.18710	T	0.47	-22.4314	4.6562	0.12618	0.1611:0.2924:0.0:0.5466	.	1274;1398;1333	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1398	ENSP00000326581:E1398D;ENSP00000403051:E1398D	ENSP00000326581:E1398D	E	-	3	2	ZIM2	62017428	0.000000	0.05858	0.454000	0.27019	0.795000	0.44927	-0.431000	0.06965	-0.346000	0.08312	-0.177000	0.13119	GAA	PEG3	-	NULL	ENSG00000198300		0.582	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	62	0	T			57325616	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	27.27	56	21	SNP	0.010	A	A	57325616	T	A	57325616	3	1	67	1	0	0	0	0	1	0	0	0	11759	1606	56	5	576	5	PEG3	19	57325616	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	42	57325616	1803367	263	18438											
CRNKL1	51340	genome.wustl.edu	37	chr20	20033128	20033128	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcaggactgacctttgAcctctcgcttgagccgtgac	7	11	10	13	2	1	4	0	4	1	0	2	5	1	5	3	1	2	2	3	1	0	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr20:20033128A>C	ENST00000377340.2	-	2	373	c.342T>G	c.(340-342)ggT>ggG	p.G114G	C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000377306.1_5'Flank|CRNKL1_ENST00000377327.4_Silent_p.G102G|C20orf26_ENST00000389656.3_5'Flank|C20orf26_ENST00000245957.5_5'Flank|CRNKL1_ENST00000536226.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	114					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CTGACCTTTGACCTCTCGCTT	0.597																																																	0													81	78	79					20																	20033128		2203	4300	6503	SO:0001819	synonymous_variant	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.342T>G	20.37:g.20033128A>C			A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	NULL	p.V71G	ENST00000377340.2	37	c.212	CCDS33446.1	20																																																																																			CRNKL1	-	NULL	ENSG00000101343		0.597	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0	116	0	A			20033128	-1	tier1	-	no_errors	ENST00000496549	ensembl	human	known	74_37	missense	16.41	107	21	SNP	0.879	C	C	20033128	A	C	20033128	2	2	67	1	0	0	0	0	0	0	0	1	3898	262	10	4		4	CRNKL1	20	20033128	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		20033128	42992392	264	18439											
RALGAPB	57148	genome.wustl.edu	37	chr20	37121752	37121752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcaaactatactaaaacaCctacagaatctttttgtacc	15	13	3	10	0	2	1	1	0	1	1	2	1	2	1	2	0	5	2	2	0	8	8			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr20:37121752C>T	ENST00000262879.6	+	3	650	c.366C>T	c.(364-366)caC>caT	p.H122H	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397040.1_Silent_p.H122H|RALGAPB_ENST00000397042.3_Silent_p.H122H|RALGAPB_ENST00000537204.1_Silent_p.H122H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	122					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACTAAAACACCTACAGAATC	0.338																																																	0													95	93	94					20																	37121752		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.366C>T	20.37:g.37121752C>T			A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.H122	ENST00000262879.6	37	c.366	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.338	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	-	0	51	0	C	NM_020336		37121752	1	tier1	-	no_errors	ENST00000262879	ensembl	human	known	74_37	silent	29.07	61	25	SNP	0.998	T	T	37121752	C	T	37121752	2	4	67	1	0	0	0	0	0	0	0	1	13060	506	18	3		3	RALGAPB	20	37121752	Silent	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	17088624	37121752	25903768	265	18440											
PLCG1	5335	genome.wustl.edu	37	chr20	39802094	39802094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatctgccaaagaatggccGaggcattgtgtgtccttttg	9	12	11	9	1	1	1	0	0	1	1	2	2	2	1	3	2	1	1	3	2	2	3	rs186053167		TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr20:39802094G>A	ENST00000373271.1	+	28	3719	c.3314G>A	c.(3313-3315)cGa>cAa	p.R1105Q	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373272.2_Missense_Mutation_p.R1105Q|PLCG1_ENST00000244007.3_Missense_Mutation_p.R1105Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1105	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGAATGGCCGAGGCATTGTG	0.562											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112	99	104					20																	39802094		2203	4300	6503	SO:0001583	missense	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3314G>A	20.37:g.39802094G>A	ENSP00000362368:p.Arg1105Gln	888	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.R1105Q	ENST00000373271.1	37	c.3314	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.185024	0.94885	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.68765	-0.35;-0.35;-0.35	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.995	P;D;P	0.78314	0.803;0.991;0.875	T	0.80082	-0.1531	10	0.72032	D	0.01	.	18.7322	0.91739	0.0:0.0:1.0:0.0	.	1105;1105;1105	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	Q	1105	ENSP00000244007:R1105Q;ENSP00000362368:R1105Q;ENSP00000362369:R1105Q	ENSP00000244007:R1105Q	R	+	2	0	PLCG1	39235508	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.869000	0.99810	2.430000	0.82344	0.455000	0.32223	CGA	PLCG1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom	ENSG00000124181		0.562	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	-	0	91	0	G	NM_182811		39802094	1	tier1	-	no_errors	ENST00000244007	ensembl	human	known	74_37	missense	47.65	78	71	SNP	1.000	A	A	39802094	G	A	39802094	3	1	67	1	0	0	0	0	1	0	0	0	12074	1058	37	1	3424	1	PLCG1	20	39802094	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	2680342	39802094	23223426	266	18441											
GNAS	2778	genome.wustl.edu	37	chr20	57428581	57428581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacccggcattcagggaAgctggagcccatggaagcta	11	6	12	12	1	2	0	2	0	0	0	2	3	2	3	2	4	4	3	2	4	4	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr20:57428581A>C	ENST00000371100.4	+	1	813	c.261A>C	c.(259-261)gaA>gaC	p.E87D	GNAS_ENST00000306120.3_Missense_Mutation_p.K24T|GNAS_ENST00000371102.4_Missense_Mutation_p.E87D|GNAS_ENST00000313949.7_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.E87D|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CATTCAGGGAAGCTGGAGCCC	0.612			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													27	30	29					20																	57428581		1933	4141	6074	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.261A>C	20.37:g.57428581A>C	ENSP00000360141:p.Glu87Asp		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.E87D	ENST00000371100.4	37	c.261	CCDS46622.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.20|11.20	1.569389|1.569389	0.28003|0.28003	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.91686|.	-2.89;-2.87|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|.	.|.	.|.	.|.	T|T	0.66645|0.66645	0.2810|0.2810	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	P|.	0.51057|.	0.941|.	B|.	0.36335|.	0.222|.	T|T	0.69277|0.69277	-0.5187|-0.5187	9|6	0.29301|0.59425	T|D	0.29|0.04	.|.	10.8288|10.8288	0.46649|0.46649	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	87|.	Q5JWF2|.	GNAS1_HUMAN|.	D|T	87|24	ENSP00000360141:E87D;ENSP00000360143:E87D|.	ENSP00000360140:E87D|ENSP00000302237:K24T	E|K	+|+	3|2	2|0	GNAS|GNAS	56861976|56861976	0.780000|0.780000	0.28664|0.28664	0.737000|0.737000	0.30932|0.30932	0.054000|0.054000	0.15201|0.15201	0.875000|0.875000	0.28079|0.28079	1.993000|1.993000	0.58246|0.58246	0.455000|0.455000	0.32223|0.32223	GAA|AAG	GNAS	-	NULL	ENSG00000087460		0.612	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	-	0	38	0	A	NM_000516		57428581	1	tier1	-	no_errors	ENST00000371100	ensembl	human	putative	74_37	missense	15.28	61	11	SNP	0.878	C	C	57428581	A	C	57428581	3	2	67	1	0	0	0	0	1	0	0	0	6536	72	3	4	1005	4	GNAS	20	57428581	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	17626487	57428581	5596939	267	18442											
CHRNA4	1137	genome.wustl.edu	37	chr20	61987723	61987723	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgccctcccactcacCtgcttcacccatacgttcgt	6	10	7	18	2	2	0	2	0	0	0	4	0	3	0	4	1	3	3	4	1	1	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr20:61987723C>A	ENST00000370263.4	-	3	494	c.273G>T	c.(271-273)caG>caT	p.Q91H	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	91					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	TCCCACTCACCTGCTTCACCC	0.667																																																	0													63	44	50					20																	61987723		2195	4290	6485	SO:0001630	splice_region_variant	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.273+1G>T	20.37:g.61987723C>A			Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Q91H	ENST00000370263.4	37	c.273	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	c	16.73	3.204004	0.58234	.	.	ENSG00000101204	ENST00000370263	T	0.79653	-1.29	4.32	3.36	0.38483	Neurotransmitter-gated ion-channel ligand-binding (3);	0.237559	0.36519	N	0.002551	D	0.82430	0.5035	L	0.53249	1.67	0.52099	D	0.999947	P	0.50156	0.932	P	0.57425	0.82	T	0.79417	-0.1812	9	.	.	.	.	8.7007	0.34323	0.0:0.761:0.1538:0.0852	.	91	P43681	ACHA4_HUMAN	H	91	ENSP00000359285:Q91H	.	Q	-	3	2	CHRNA4	61458167	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.729000	0.38115	0.767000	0.33267	0.443000	0.29094	CAG	CHRNA4	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000101204		0.667	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3		0	41	0	C		Missense_Mutation	61987723	-1			no_errors	ENST00000370263	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	A	A	61987723	C	A	61987723	5	1	67	1	0	0	0	0	0	0	1	0	3392	695	24	3	1626	3	CHRNA4	20	61987723	Splice_Site	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	4559142	61987723	1037797	268	18443											
MYT1	4661	genome.wustl.edu	37	chr20	62837012	62837012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagctggctctggacgagGgctatggtgtggacagcgac	8	8	17	8	2	1	1	0	1	1	0	1	5	1	3	0	5	2	3	0	5	2	1			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr20:62837012G>A	ENST00000328439.1	+	6	620	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	MYT1_ENST00000360149.4_Missense_Mutation_p.G86S|MYT1_ENST00000536311.1_Missense_Mutation_p.G86S	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCTGGACGAGGGCTATGGTGT	0.622																																					GBM(59;481 1041 20555 21139 33705)												0													79	69	73					20																	62837012		2203	4300	6503	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.256G>A	20.37:g.62837012G>A	ENSP00000327465:p.Gly86Ser		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.G86S	ENST00000328439.1	37	c.256	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919096	0.73098	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.47869	0.83;1.6;1.6	5.58	4.64	0.57946	.	0.111822	0.64402	D	0.000013	T	0.61949	0.2388	M	0.63843	1.955	0.29109	N	0.881001	B;D	0.76494	0.006;0.999	B;D	0.76071	0.011;0.987	T	0.58470	-0.7631	10	0.12766	T	0.61	-26.2635	14.3203	0.66482	0.0712:0.0:0.9287:0.0	.	86;86	Q01538;Q6P6D5	MYT1_HUMAN;.	S	86	ENSP00000353269:G86S;ENSP00000327465:G86S;ENSP00000442412:G86S	ENSP00000327465:G86S	G	+	1	0	MYT1	62307456	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.684000	0.84104	1.370000	0.46153	0.655000	0.94253	GGC	MYT1	-	NULL	ENSG00000196132		0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	-	0	51	0	G	NM_004535		62837012	1	tier1	-	no_errors	ENST00000536311	ensembl	human	known	74_37	missense	37.50	45	27	SNP	1.000	A	A	62837012	G	A	62837012	3	1	67	1	0	0	0	0	1	0	0	0	10144	1232	43	3	270	3	MYT1	20	62837012	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	849289	62837012	188508	269	18444											
TPTE	7179	genome.wustl.edu	37	chr21	10908859	10908859	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagatgtgtgcaaccagaAgtaaaatgagcaattgtcat	18	9	9	5	0	1	3	1	1	0	2	1	3	1	3	1	0	3	3	1	0	7	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr21:10908859A>C	ENST00000361285.4	-	23	1815	c.1486T>G	c.(1486-1488)Ttc>Gtc	p.F496V	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.F478V|TPTE_ENST00000342420.5_Missense_Mutation_p.F458V	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	496	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCAACCAGAAGTAAAATGAG	0.289																																																	0													129	121	124					21																	10908859		2202	4297	6499	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1486T>G	21.37:g.10908859A>C	ENSP00000355208:p.Phe496Val		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.F496V	ENST00000361285.4	37	c.1486	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	11.08	1.533107	0.27387	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84370	-1.84;-1.84;-1.84	2.18	2.18	0.27775	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.91536	0.7327	M	0.88640	2.97	0.53005	D	0.999968	D;D;P	0.89917	1.0;1.0;0.94	D;D;P	0.97110	1.0;0.993;0.896	D	0.90246	0.4290	10	0.46703	T	0.11	-17.6206	8.305	0.32036	1.0:0.0:0.0:0.0	.	458;478;496	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	V	478;496;458	ENSP00000298232:F478V;ENSP00000355208:F496V;ENSP00000344441:F458V	ENSP00000298232:F478V	F	-	1	0	TPTE	9930730	1.000000	0.71417	0.974000	0.42286	0.017000	0.09413	5.525000	0.67110	1.246000	0.43901	0.155000	0.16302	TTC	TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000166157		0.289	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	181	0	A			10908859	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	16.13	104	20	SNP	0.999	C	C	10908859	A	C	10908859	3	2	67	1	0	0	0	0	1	0	0	0	16478	72	3	4	177	4	TPTE	21	10908859	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09		10908859	37221036	270	18445											
KRTAP19-3	337970	genome.wustl.edu	37	chr21	31864263	31864263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctccatagtagctgcCgtagtagctcatggtgtcag	8	10	12	11	1	2	0	2	0	0	0	3	0	3	0	3	2	3	5	3	2	4	4	rs75692404	byFrequency	TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr21:31864263C>T	ENST00000334063.4	-	1	12	c.13G>A	c.(13-15)Ggc>Agc	p.G5S		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	5						intermediate filament (GO:0005882)				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						TAGTAGCTGCCGTAGTAGCTC	0.552																																																	0													140	129	133					21																	31864263		2203	4300	6503	SO:0001583	missense	0			AP001708	CCDS13596.1	21q22.1	2011-02-10			ENSG00000244025	ENSG00000244025		"Keratin associated proteins"	18938	protein-coding gene	gene with protein product						12359730	Standard	NM_181609		Approved	KAP19.3	uc002yog.1	Q7Z4W3	OTTHUMG00000057782	ENST00000334063.4:c.13G>A	21.37:g.31864263C>T	ENSP00000386376:p.Gly5Ser			Missense_Mutation	SNP	pfam_KRTAP_type6/8/16/19/20	p.G5S	ENST00000334063.4	37	c.13	CCDS13596.1	21	.	.	.	.	.	.	.	.	.	.	C	6.243	0.413003	0.11812	.	.	ENSG00000244025	ENST00000334063	T	0.08720	3.06	5.7	-1.59	0.08453	.	0.000000	0.39985	U	0.001216	T	0.04092	0.0114	.	.	.	0.09310	N	1	P	0.48162	0.906	B	0.35353	0.201	T	0.38866	-0.9641	9	0.87932	D	0	.	1.8742	0.03215	0.1223:0.4295:0.1356:0.3125	.	5	Q7Z4W3	KR193_HUMAN	S	5	ENSP00000386376:G5S	ENSP00000386376:G5S	G	-	1	0	KRTAP19-3	30786134	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.469000	0.06648	-0.537000	0.06290	0.655000	0.94253	GGC	KRTAP19-3	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000244025		0.552	KRTAP19-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-3	HGNC	protein_coding	OTTHUMT00000128234.2	-	0	115	0	C			31864263	-1	tier1	-	no_errors	ENST00000334063	ensembl	human	known	74_37	missense	45.56	49	41	SNP	0.001	T	T	31864263	C	T	31864263	3	4	67	1	0	0	0	0	1	0	0	0	8557	652	23	1	236	1	KRTAP19-3	21	31864263	Missense_Mutation	SNP	C	TCGA-L5-A4OT-01A-11D-A28B-09	20955404	31864263	16265632	271	18446											
TTC3	7267	genome.wustl.edu	37	chr21	38537881	38537881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagtttttggaggaacatgGtcccttggacatgagtaaca	11	12	11	7	0	1	1	1	1	0	0	2	4	2	4	1	4	2	2	1	4	2	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr21:38537881G>T	ENST00000399017.2	+	33	6112	c.3365G>T	c.(3364-3366)gGt>gTt	p.G1122V	TTC3_ENST00000354749.2_Missense_Mutation_p.G1122V|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.G1122V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1122					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GAGGAACATGGTCCCTTGGAC	0.333																																					Ovarian(38;194 1649 35661)												0													112	122	118					21																	38537881		2202	4298	6500	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3365G>T	21.37:g.38537881G>T	ENSP00000381981:p.Gly1122Val		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.G1122V	ENST00000399017.2	37	c.3365	CCDS13651.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.16|19.16	3.774119|3.774119	0.69992|0.69992	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000418766;ENST00000438055;ENST00000355666;ENST00000399017;ENST00000354749|ENST00000411496	T;T;T;T;T|.	0.63580|.	-0.01;0.08;-0.05;-0.05;-0.05|.	4.61|4.61	4.61|4.61	0.57282|0.57282	.|.	0.186168|.	0.37219|.	N|.	0.002200|.	T|T	0.72653|0.72653	0.3487|0.3487	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.72988|0.72988	-0.4124|-0.4124	10|5	0.87932|.	D|.	0|.	-17.6425|-17.6425	15.9535|15.9535	0.79861|0.79861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180;1122|.	Q5GIT6;P53804|.	.;TTC3_HUMAN|.	V|F	1122;1104;1122;1122;1122|278	ENSP00000403943:G1122V;ENSP00000391891:G1104V;ENSP00000347889:G1122V;ENSP00000381981:G1122V;ENSP00000346791:G1122V|.	ENSP00000346791:G1122V|.	G|V	+|+	2|1	0|0	TTC3|TTC3	37459751|37459751	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.975000|0.975000	0.68041|0.68041	5.676000|5.676000	0.68131|0.68131	2.282000|2.282000	0.76494|0.76494	0.491000|0.491000	0.48974|0.48974	GGT|GTC	TTC3	-	NULL	ENSG00000182670		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0	48	0	G			38537881	1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	38537881	G	T	38537881	3	4	67	1	0	0	0	0	1	0	0	0	16746	1261	44	3	3491	3	TTC3	21	38537881	Missense_Mutation	SNP	G	TCGA-L5-A4OT-01A-11D-A28B-09	6673618	38537881	9592014	272	18447											
CECR2	27443	genome.wustl.edu	37	chr22	18022577	18022577	+	Frame_Shift_Del	DEL	T	T	-																															cacccccgtttacctggcccTtttccgcaggtagctcaccc																										TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr22:18022577delT	ENST00000400585.2	+	16	2694	c.2256delT	c.(2254-2256)cctfs	p.P752fs	CECR2_ENST00000400573.5_Frame_Shift_Del_p.P893fs|CECR2_ENST00000262608.8_Frame_Shift_Del_p.P894fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	935					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TACCTGGCCCTTTTCCGCAGG	0.637																																																	0													86	91	89					22																	18022577		2016	4165	6181	SO:0001589	frameshift_variant	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2256delT	22.37:g.18022577delT	ENSP00000383428:p.Pro752fs		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P895fs	ENST00000400585.2	37	c.2679		22																																																																																			CECR2	-	NULL	ENSG00000099954		0.637	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2		0	44	0	T	NM_031413		18022577	1	tier1		no_errors	ENST00000400573	ensembl	human	novel	74_37	frame_shift_del	6.67	28	2	DEL	0.995	-	-	18022577	T	-	18022577	7	5	67	1	0	1	0	1	0	0	0	0	3213	1596	56	0	2739	0	CECR2	22	18022577	Frame_Shift_Del	DEL	T	TCGA-L5-A4OT-01A-11D-A28B-09		18022577	33281989	273	18448											
SFI1	9814	genome.wustl.edu	37	chr22	32009640	32009641	+	Frame_Shift_Del	DEL	AG	AG	-																															ctgtgccacgctctggaaacAgaaagtgctgggccggggcg																								rs553539195	byFrequency	TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chr22:32009640_32009641delAG	ENST00000400288.2	+	27	2900_2901	c.2795_2796delAG	c.(2794-2796)cagfs	p.Q932fs	SFI1_ENST00000540643.1_Frame_Shift_Del_p.Q877fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.Q779fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.Q779fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.Q850fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.Q850fs|SFI1_ENST00000432498.1_Frame_Shift_Del_p.Q901fs	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	932					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTCTGGAAACAGAAAGTGCTGG	0.644														3	0.000599042	8e-04	0	5008	,	,		18601	0		0	False		,,,				2504	0.002																0									,	6,3894		3,0,1947					,	1.7	0.9			20	11,7977		3,5,3986	no	frameshift,frameshift	SFI1	NM_014775.2,NM_001007467.1	,	6,5,5933	A1A1,A1R,RR		0.1377,0.1538,0.143	,	,		17,11871				SO:0001589	frameshift_variant	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.2795_2796delAG	22.37:g.32009640_32009641delAG	ENSP00000383145:p.Gln932fs		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Frame_Shift_Del	DEL	superfamily_Cyclin-like	p.K933fs	ENST00000400288.2	37	c.2795_2796	CCDS43004.1	22																																																																																			SFI1	-	NULL	ENSG00000198089		0.644	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3		0	157	0	AG	NM_014775		32009641	1	tier1		no_errors	ENST00000400288	ensembl	human	known	74_37	frame_shift_del	47.57	54	49	DEL	1.000:1.000	-	-	32009641	AG	-	32009640	7	5	67	1	0	1	0	1	0	0	0	0	14201	188	7	0	2897	0	SFI1	22	32009640	Frame_Shift_Del	DEL	AG	TCGA-L5-A4OT-01A-11D-A28B-09	13987063	32009640	19294926	274	18449											
FRMPD4	9758	genome.wustl.edu	37	chrX	12734450	12734450	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggcagactacagaagTctagctcagcggtccctatt	10	10	11	10	1	2	3	1	1	1	2	3	3	3	3	1	2	3	2	1	2	4	4			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chrX:12734450T>C	ENST00000380682.1	+	15	2378	c.1872T>C	c.(1870-1872)agT>agC	p.S624S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	624					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTACAGAAGTCTAGCTCAGC	0.517																																																	0													83	83	83					X																	12734450		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"PDZ domain containing 10"	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1872T>C	X.37:g.12734450T>C			A8K0X9|O15032	Silent	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom	p.S624	ENST00000380682.1	37	c.1872	CCDS35201.1	X																																																																																			FRMPD4	-	NULL	ENSG00000169933		0.517	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1		0	10	0	T	XM_045712		12734450	1			no_errors	ENST00000380682	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.071	C	C	12734450	T	C	12734450	2	2	67	1	0	0	0	0	0	0	0	1	6083	1664	58	4		4	FRMPD4	23	12734450	Silent	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09		12734450	142536110	275	18450											
WNK3	65267	genome.wustl.edu	37	chrX	54259372	54259372	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagattgggttttgctatcTttaattgaccgaaggcgttc	8	16	11	6	2	1	2	0	1	1	1	2	3	1	2	1	2	1	4	1	2	4	9			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chrX:54259372T>A	ENST00000375159.2	-	20	4709	c.4710A>T	c.(4708-4710)aaA>aaT	p.K1570N	WNK3_ENST00000375169.3_Missense_Mutation_p.K1523N|WNK3_ENST00000354646.2_Missense_Mutation_p.K1570N			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1570					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTTGCTATCTTTAATTGACC	0.458																																																	0													152	137	142					X																	54259372		2203	4300	6503	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4710A>T	X.37:g.54259372T>A	ENSP00000364301:p.Lys1570Asn		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K1570N	ENST00000375159.2	37	c.4710	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	T	16.91	3.252260	0.59212	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.73152	-0.72;-0.69;-0.69	5.69	5.69	0.88448	.	0.101750	0.43260	D	0.000582	T	0.60779	0.2295	L	0.44542	1.39	0.40111	D	0.976482	P;P	0.46512	0.879;0.808	B;B	0.39840	0.311;0.164	T	0.66905	-0.5805	10	0.72032	D	0.01	-12.656	8.5423	0.33399	0.0:0.0885:0.0:0.9115	.	1523;1570	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	N	1523;1570;1570	ENSP00000364312:K1523N;ENSP00000346667:K1570N;ENSP00000364301:K1570N	ENSP00000346667:K1570N	K	-	3	2	WNK3	54276097	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.084000	0.50143	1.904000	0.55121	0.481000	0.45027	AAA	WNK3	-	NULL	ENSG00000196632		0.458	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	-	0	40	0	T	NM_020922		54259372	-1	tier1	-	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	61.29	24	38	SNP	1.000	A	A	54259372	T	A	54259372	3	1	67	1	0	0	0	0	1	0	0	0	17428	1606	56	5	708	5	WNK3	23	54259372	Missense_Mutation	SNP	T	TCGA-L5-A4OT-01A-11D-A28B-09	41524922	54259372	101011188	276	18451											
MAGEE2	139599	genome.wustl.edu	37	chrX	75004141	75004141	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagagccccacaagaactcaAactcaaggggattagtgcca	15	6	9	11	0	2	2	2	0	0	2	2	3	2	3	3	2	4	0	3	2	6	2			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chrX:75004141A>C	ENST00000373359.2	-	1	938	c.746T>G	c.(745-747)tTt>tGt	p.F249C		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	249	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGAACTCAAACTCAAGGGG	0.502																																																	0													65	59	61					X																	75004141		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.746T>G	X.37:g.75004141A>C	ENSP00000362457:p.Phe249Cys		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F249C	ENST00000373359.2	37	c.746	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683073	0.29872	.	.	ENSG00000186675	ENST00000373359	T	0.04706	3.57	3.1	-0.988	0.10245	.	.	.	.	.	T	0.07234	0.0183	L	0.31578	0.945	0.09310	N	1	D	0.61080	0.989	P	0.59948	0.866	T	0.30238	-0.9985	9	0.66056	D	0.02	.	2.3893	0.04374	0.4129:0.0:0.1403:0.4468	.	249	Q8TD90	MAGE2_HUMAN	C	249	ENSP00000362457:F249C	ENSP00000362457:F249C	F	-	2	0	MAGEE2	74920866	0.998000	0.40836	0.002000	0.10522	0.918000	0.54935	0.377000	0.20552	-0.312000	0.08741	0.345000	0.21793	TTT	MAGEE2	-	pfam_MAGE,pfscan_MAGE	ENSG00000186675		0.502	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0	23	0	A	NM_138703		75004141	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	93.33	1	14	SNP	0.003	C	C	75004141	A	C	75004141	3	2	67	1	0	0	0	0	1	0	0	0	9224	14	1	4	829	4	MAGEE2	23	75004141	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	20744769	75004141	80266419	277	18452											
PCDH19	57526	genome.wustl.edu	37	chrX	99663101	99663101	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgttgggcgtgagctcgtaAgtctgcacgccaaagcttcc	7	10	12	12	4	1	1	0	1	1	0	4	1	2	1	2	1	3	5	2	1	2	3			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chrX:99663101A>C	ENST00000373034.4	-	1	2170	c.495T>G	c.(493-495)acT>acG	p.T165T	PCDH19_ENST00000255531.7_Silent_p.T165T|PCDH19_ENST00000420881.2_Silent_p.T165T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGAGCTCGTAAGTCTGCACGC	0.637																																																	0													53	54	54					X																	99663101		2112	4192	6304	SO:0001819	synonymous_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.495T>G	X.37:g.99663101A>C			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T165	ENST00000373034.4	37	c.495	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.637	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	-	0	18	0	A	NM_020766		99663101	-1	tier1	-	no_errors	ENST00000373034	ensembl	human	known	74_37	silent	51.72	14	15	SNP	0.019	C	C	99663101	A	C	99663101	2	2	67	1	0	0	0	0	0	0	0	1	11553	59	3	4		4	PCDH19	23	99663101	Silent	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	24658960	99663101	55607459	278	18453											
FGF13	2258	genome.wustl.edu	37	chrX	137785181	137785181	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctcactgttcattgccaAgtacagcttggtttgaactc	8	14	7	12	0	2	1	2	1	0	0	4	1	3	1	2	1	4	4	2	1	3	5			TCGA-L5-A4OT-01A-11D-A28B-09	TCGA-L5-A4OT-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c72cd7c-a75c-4cec-b906-195a719b282a	eb5fbbea-f23a-43fa-9799-e24846ff415b	g.chrX:137785181A>C	ENST00000315930.6	-	3	1028	c.367T>G	c.(367-369)Ttg>Gtg	p.L123V	FGF13_ENST00000541469.1_Missense_Mutation_p.L77V|FGF13_ENST00000441825.2_Missense_Mutation_p.L104V|FGF13_ENST00000305414.4_Missense_Mutation_p.L70V|FGF13_ENST00000370603.3_Missense_Mutation_p.L133V	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	123	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCATTGCCAAGTACAGCTTG	0.398																																																	0													131	108	116					X																	137785181		2203	4300	6503	SO:0001583	missense	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.367T>G	X.37:g.137785181A>C	ENSP00000322390:p.Leu123Val		B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.L133V	ENST00000315930.6	37	c.397	CCDS14665.1	X	.	.	.	.	.	.	.	.	.	.	A	12.29	1.892173	0.33442	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.68	2.99	0.34606	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	N	0.13371	0.34	0.50039	D	0.999847	B;B;B;B	0.14805	0.011;0.009;0.009;0.001	B;B;B;B	0.24269	0.009;0.052;0.005;0.009	T	0.42327	-0.9458	10	0.31617	T	0.26	.	7.3504	0.26686	0.7295:0.0:0.2705:0.0	.	77;133;70;123	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	V	123;70;104;133;77;133;139	ENSP00000322390:L123V;ENSP00000303391:L70V;ENSP00000409276:L104V;ENSP00000359635:L133V;ENSP00000437903:L77V;ENSP00000396198:L133V;ENSP00000406916:L139V	ENSP00000303391:L70V	L	-	1	2	FGF13	137612847	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.229000	0.42990	0.783000	0.33636	0.481000	0.45027	TTG	FGF13	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	ENSG00000129682		0.398	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF13	HGNC	protein_coding	OTTHUMT00000058534.2	-	0	12	0	A	NM_004114		137785181	-1	tier1	-	no_errors	ENST00000370603	ensembl	human	known	74_37	missense	63.64	4	7	SNP	0.999	C	C	137785181	A	C	137785181	3	2	67	1	0	0	0	0	1	0	0	0	5864	69	3	4	382	4	FGF13	23	137785181	Missense_Mutation	SNP	A	TCGA-L5-A4OT-01A-11D-A28B-09	38122080	137785181	17485379	279	18454											
EPHA2	1969	genome.wustl.edu	37	chr1	16461561	16461561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcgtgcaccttgctgcCggccccctggccctcctgcg	3	9	11	18	3	0	0	0	0	0	0	2	1	1	0	6	2	4	2	6	2	1	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:16461561C>T	ENST00000358432.5	-	7	1706	c.1552G>A	c.(1552-1554)Ggc>Agc	p.G518S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	518	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACCTTGCTGCCGGCCCCCTGG	0.647																																																	0													122	133	129					1																	16461561		2203	4300	6503	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1552G>A	1.37:g.16461561C>T	ENSP00000351209:p.Gly518Ser		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G518S	ENST00000358432.5	37	c.1552	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995006	0.54041	.	.	ENSG00000142627	ENST00000358432	T	0.52057	0.68	5.4	4.49	0.54785	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.115878	0.39020	N	0.001498	T	0.27098	0.0664	N	0.14661	0.345	0.40495	D	0.980581	B	0.02656	0.0	B	0.04013	0.001	T	0.08472	-1.0720	10	0.27785	T	0.31	.	7.0812	0.25231	0.1699:0.7427:0.0:0.0874	.	518	P29317	EPHA2_HUMAN	S	518	ENSP00000351209:G518S	ENSP00000351209:G518S	G	-	1	0	EPHA2	16334148	0.216000	0.23585	0.997000	0.53966	0.998000	0.95712	1.445000	0.35079	1.285000	0.44548	0.655000	0.94253	GGC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0	62	0	C	NM_004431		16461561	-1	tier1	-	no_errors	ENST00000358432	ensembl	human	known	74_37	missense	40.58	41	28	SNP	0.999	T	T	16461561	C	T	16461561	3	4	68	1	0	0	0	0	1	0	0	0	5183	652	23	1	1422	1	EPHA2	1	16461561	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09		16461561	232789060	1	18455											
UBR4	23352	genome.wustl.edu	37	chr1	19454777	19454777	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccccttgtctttctcatcTtctccatccagatctgtagt	5	16	5	15	0	5	1	1	0	5	1	8	1	6	1	4	0	0	1	4	0	1	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:19454777T>G	ENST00000375254.3	-	62	9066	c.9039A>C	c.(9037-9039)gaA>gaC	p.E3013D	UBR4_ENST00000375217.2_Missense_Mutation_p.E3006D|UBR4_ENST00000375226.2_Missense_Mutation_p.E2989D|UBR4_ENST00000375267.2_Missense_Mutation_p.E3013D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3013					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTTCTCATCTTCTCCATCCA	0.438																																																	0													130	137	135					1																	19454777		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9039A>C	1.37:g.19454777T>G	ENSP00000364403:p.Glu3013Asp		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E3013D	ENST00000375254.3	37	c.9039	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054419	0.36277	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.65	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.56769	1.78	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11131	-1.0600	10	0.22109	T	0.4	.	3.9774	0.09479	0.1537:0.1622:0.0:0.6841	.	3013	Q5T4S7	UBR4_HUMAN	D	3013;3013;3006;2989;621;1699	ENSP00000364403:E3013D;ENSP00000364416:E3013D;ENSP00000364365:E3006D;ENSP00000364374:E2989D	ENSP00000364365:E3006D	E	-	3	2	UBR4	19327364	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.901000	0.28445	0.981000	0.38548	0.533000	0.62120	GAA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	50	0	T	NM_020765		19454777	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	G	G	19454777	T	G	19454777	3	3	68	1	0	0	0	0	1	0	0	0	16953	1606	56	4	6692	4	UBR4	1	19454777	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	2993216	19454777	229795844	2	18456											
EYA3	2140	genome.wustl.edu	37	chr1	28315141	28315141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaccagctgggtggtaGtgatcagaacattcacacaa	13	8	11	9	0	2	2	2	1	0	1	2	3	2	3	1	3	3	2	1	3	4	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:28315141G>C	ENST00000373871.3	-	16	1685	c.1445C>G	c.(1444-1446)aCt>aGt	p.T482S	EYA3_ENST00000436342.2_Missense_Mutation_p.T356S|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.T325S|EYA3_ENST00000373863.3_Missense_Mutation_p.T436S|EYA3_ENST00000545175.1_Missense_Mutation_p.T429S|EYA3_ENST00000540618.1_Missense_Mutation_p.T436S	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	482					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGGTGGTAGTGATCAGAAC	0.413																																																	0													75	75	75					1																	28315141		2203	4300	6503	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1445C>G	1.37:g.28315141G>C	ENSP00000362978:p.Thr482Ser		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.T482S	ENST00000373871.3	37	c.1445	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.526771	0.96431	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	6.07	6.07	0.98685	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.987;0.996;0.998	D;D;D	0.79108	0.95;0.988;0.992	D	0.88306	0.2953	10	0.45353	T	0.12	-17.4612	20.6593	0.99626	0.0:0.0:1.0:0.0	.	436;436;482	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	S	482;356;325;436;429;436	ENSP00000362978:T482S;ENSP00000405587:T356S;ENSP00000362971:T325S;ENSP00000442558:T436S;ENSP00000442280:T429S;ENSP00000362970:T436S	ENSP00000362970:T436S	T	-	2	0	EYA3	28187728	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.804000	0.99143	2.885000	0.99019	0.655000	0.94253	ACT	EYA3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000158161		0.413	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	-	0	40	0	G	NM_001990		28315141	-1	tier1	-	no_errors	ENST00000373871	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	C	C	28315141	G	C	28315141	3	2	68	1	0	0	0	0	1	0	0	0	5346	1029	36	5	288	5	EYA3	1	28315141	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	8860364	28315141	220935480	3	18457											
USP24	23358	genome.wustl.edu	37	chr1	55573052	55573052	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttatccagccaagtaatcTcatcttcaagcatcgtagct	12	12	6	11	1	3	0	2	0	2	0	6	0	4	0	2	0	3	5	2	0	5	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:55573052T>G	ENST00000294383.6	-	40	4621	c.4622A>C	c.(4621-4623)gAg>gCg	p.E1541A	USP24_ENST00000407756.1_Missense_Mutation_p.E1381A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1541					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CCAAGTAATCTCATCTTCAAG	0.423																																																	0													103	98	100					1																	55573052		1965	4156	6121	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4622A>C	1.37:g.55573052T>G	ENSP00000294383:p.Glu1541Ala		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.E1381A	ENST00000294383.6	37	c.4142	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.980203	0.92982	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.69806	-0.43;-0.43	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.79818	-0.1643	10	0.42905	T	0.14	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	1381	B7WPF4	.	A	1541;1381	ENSP00000294383:E1541A;ENSP00000385700:E1381A	ENSP00000294383:E1541A	E	-	2	0	USP24	55345640	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.255000	0.74692	0.533000	0.62120	GAG	USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.423	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	57	0	T			55573052	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	G	G	55573052	T	G	55573052	3	3	68	1	0	0	0	0	1	0	0	0	17104	1551	54	4	3356	4	USP24	1	55573052	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	27257911	55573052	193677569	4	18458											
TGFBR3	7049	genome.wustl.edu	37	chr1	92327064	92327064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctcatcagggcaaagaTggcaatcacataatgggaag	15	6	13	7	0	3	1	3	0	0	1	3	3	3	3	0	4	1	3	0	4	4	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:92327064T>A	ENST00000525962.1	-	1	86	c.25A>T	c.(25-27)Atc>Ttc	p.I9F	TGFBR3_ENST00000212355.4_Missense_Mutation_p.I9F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.I9F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	9					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGGCAAAGATGGCAATCACA	0.393																																																	0													146	135	139					1																	92327064		2203	4300	6503	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"Proteoglycans / Cell surface : Other"	11774	protein-coding gene	gene with protein product	"betaglycan proteoglycan"	600742	"transforming growth factor, beta receptor III (betaglycan, 300kDa)"			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.25A>T	1.37:g.92327064T>A	ENSP00000436127:p.Ile9Phe		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.I9F	ENST00000525962.1	37	c.25	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	T	9.777	1.174159	0.21704	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892;ENST00000417833	T;T;T;T;T	0.35973	1.41;1.41;1.41;1.41;1.28	5.32	-9.89	0.00464	.	1.499430	0.03412	N	0.204884	T	0.08179	0.0204	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.16289	0.015;0.007	T	0.30822	-0.9965	10	0.72032	D	0.01	1.3645	9.2702	0.37666	0.1038:0.6353:0.1051:0.1558	.	9;9	Q03167-2;Q03167	.;TGBR3_HUMAN	F	9	ENSP00000212355:I9F;ENSP00000359426:I9F;ENSP00000436127:I9F;ENSP00000432638:I9F;ENSP00000395975:I9F	ENSP00000212355:I9F	I	-	1	0	TGFBR3	92099652	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-3.459000	0.00464	-1.965000	0.01010	-0.263000	0.10527	ATC	TGFBR3	-	NULL	ENSG00000069702		0.393	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	-	0	33	0	T	NM_003243		92327064	-1	tier1	-	no_errors	ENST00000212355	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.000	A	A	92327064	T	A	92327064	3	1	68	1	0	0	0	0	1	0	0	0	15870	1464	51	5	2594	5	TGFBR3	1	92327064	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	36754012	92327064	156923557	5	18459											
COL11A1	1301	genome.wustl.edu	37	chr1	103491143	103491143	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccattgttccatagttgtaTtcttgaaaatcatcaacgat	12	16	5	8	1	3	1	2	1	1	0	5	2	5	1	2	0	1	3	2	0	5	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:103491143T>G	ENST00000370096.3	-	7	1236	c.924A>C	c.(922-924)gaA>gaC	p.E308D	COL11A1_ENST00000358392.2_Missense_Mutation_p.E320D|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.E269D	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	308	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATAGTTGTATTCTTGAAAAT	0.353																																																	0													123	117	119					1																	103491143		2203	4299	6502	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.924A>C	1.37:g.103491143T>G	ENSP00000359114:p.Glu308Asp		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.E320D	ENST00000370096.3	37	c.960	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054441	0.36277	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88046	-2.3;-0.64;-2.33;-0.57	5.53	-0.889	0.10580	.	0.288499	0.39020	N	0.001499	T	0.51363	0.1670	N	0.21508	0.67	0.26663	N	0.971879	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.48906	-0.8993	10	0.11794	T	0.64	.	5.5427	0.17047	0.0:0.2055:0.2593:0.5351	.	269;320;308	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	D	308;320;269;320	ENSP00000359114:E308D;ENSP00000351163:E320D;ENSP00000302551:E269D;ENSP00000408640:E320D	ENSP00000302551:E269D	E	-	3	2	COL11A1	103263731	0.004000	0.15560	0.997000	0.53966	0.996000	0.88848	-1.819000	0.01716	-0.158000	0.11040	0.519000	0.50382	GAA	COL11A1	-	NULL	ENSG00000060718		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	53	0	T	NM_080630		103491143	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	45.28	29	24	SNP	0.999	G	G	103491143	T	G	103491143	3	3	68	1	0	0	0	0	1	0	0	0	3674	1490	52	4	4740	4	COL11A1	1	103491143	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	11164079	103491143	145759478	6	18460											
PRPF38B	55119	genome.wustl.edu	37	chr1	109241944	109241944	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagaaagggagaaagaaCggcgaagatcccgaagtatt	18	4	12	7	3	0	4	0	0	0	4	1	7	1	4	2	2	1	1	2	2	7	2	rs142474016		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:109241944C>A	ENST00000370025.4	+	6	1212	c.943C>A	c.(943-945)Cgg>Agg	p.R315R	PRPF38B_ENST00000370021.1_Silent_p.R204R	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	315	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GGAGAAAGAACGGCGAAGATC	0.512																																																	0													91	91	91					1																	109241944		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.943C>A	1.37:g.109241944C>A			Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	pfam_PRP38	p.R315	ENST00000370025.4	37	c.943	CCDS788.1	1																																																																																			PRPF38B	-	NULL	ENSG00000134186		0.512	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1		0	22	0	C	NM_018061		109241944	1			no_errors	ENST00000370025	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	A	A	109241944	C	A	109241944	2	1	68	1	0	0	0	0	0	0	0	1	12610	527	19	2		2	PRPF38B	1	109241944	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	5750801	109241944	140008677	7	18461											
KCNA3	3738	genome.wustl.edu	37	chr1	111216094	111216094	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgggtgcatatcgccgtaAcccactgttgtcatggttac	8	12	10	11	2	1	0	1	0	0	0	2	0	1	0	2	2	3	4	2	2	3	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:111216094A>T	ENST00000369769.2	-	1	1561	c.1338T>A	c.(1336-1338)ggT>ggA	p.G446G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	446					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TATCGCCGTAACCCACTGTTG	0.577																																																	0													110	89	96					1																	111216094		2203	4300	6503	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1338T>A	1.37:g.111216094A>T			Q5VWN2	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G446	ENST00000369769.2	37	c.1338	CCDS828.2	1																																																																																			KCNA3	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000177272		0.577	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0	58	0	A	NM_002232		111216094	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	silent	7.14	51	4	SNP	0.252	T	T	111216094	A	T	111216094	2	4	68	1	0	0	0	0	0	0	0	1	8031	30	2	5		5	KCNA3	1	111216094	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	1974150	111216094	138034527	8	18462											
TSHB	7252	genome.wustl.edu	37	chr1	115576592	115576592	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttttctgttctttccccAggatatcaatggcaaactgt	8	16	6	11	0	4	0	1	0	3	0	5	1	5	1	2	2	1	2	2	2	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:115576592A>C	ENST00000369517.1	+	2	162		c.e2-1		TSHB_ENST00000256592.1_Splice_Site			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta						anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TTCTTTCCCCAGGATATCAAT	0.358																																																	0													159	160	160					1																	115576592		2203	4300	6503	SO:0001630	splice_region_variant	0			BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"Endogenous ligands"	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.163-1A>C	1.37:g.115576592A>C			B1AKP0|Q16163	Splice_Site	SNP	-	e2-2	ENST00000369517.1	37	c.163-2	CCDS880.1	1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223113	0.58668	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6528	0.77110	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSHB	115378115	1.000000	0.71417	0.984000	0.44739	0.911000	0.54048	6.877000	0.75562	2.170000	0.68504	0.533000	0.62120	.	TSHB	-	-	ENSG00000134200		0.358	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHB	HGNC	protein_coding	OTTHUMT00000032833.2	-	0	110	0	A	NM_000549	Intron	115576592	1	tier1	-	no_errors	ENST00000256592	ensembl	human	known	74_37	splice_site	34.43	80	42	SNP	0.993	C	C	115576592	A	C	115576592	5	2	68	1	0	0	0	0	0	0	1	0	16669	202	7	4	167	4	TSHB	1	115576592	Splice_Site	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	4360498	115576592	133674029	9	18463											
CD1C	911	genome.wustl.edu	37	chr1	158261944	158261944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccagaaggcttctttcaGgtagctttcaacggattaga	11	11	10	9	1	3	2	2	0	1	2	3	3	3	3	1	3	3	3	1	3	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:158261944G>T	ENST00000368170.3	+	3	678	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	133					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCTTCTTTCAGGTAGCTTTCA	0.473																																																	0													112	118	116					1																	158261944		2203	4300	6503	SO:0001583	missense	0			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1636	protein-coding gene	gene with protein product		188340	"CD1C antigen, c polypeptide", "CD1c antigen"	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.399G>T	1.37:g.158261944G>T	ENSP00000357152:p.Gln133His		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Q133H	ENST00000368170.3	37	c.399	CCDS1175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	2.654|2.654	-0.281190|-0.281190	0.05642|0.05642	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170	.|T	.|0.08634	.|3.07	3.92|3.92	-2.27|-2.27	0.06846|0.06846	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.251230	.|0.05986	.|N	.|0.645212	T|T	0.01061|0.01061	0.0035|0.0035	N|N	0.11154|0.11154	0.105|0.105	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.48525|0.48525	-0.9028|-0.9028	5|10	.|0.27082	.|T	.|0.32	.|.	4.1242|4.1242	0.10119|0.10119	0.2045:0.0:0.2814:0.5141|0.2045:0.0:0.2814:0.5141	.|.	.|133	.|P29017	.|CD1C_HUMAN	C|H	68|133	.|ENSP00000357152:Q133H	.|ENSP00000357151:Q133H	G|Q	+|+	1|3	0|2	CD1C|CD1C	156528568|156528568	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.990000|-0.990000	0.03732|0.03732	-0.532000|-0.532000	0.06332|0.06332	0.644000|0.644000	0.83932|0.83932	GGT|CAG	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.473	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	-	0	47	0	G	NM_001765		158261944	1	tier1	-	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.000	T	T	158261944	G	T	158261944	3	4	68	1	0	0	0	0	1	0	0	0	2983	991	35	3	409	3	CD1C	1	158261944	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	42685352	158261944	90988677	10	18464											
FCRL6	343413	genome.wustl.edu	37	chr1	159779891	159779891	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctgctcccaggttctcaAgtcttgttcactcccgccag	5	12	7	17	1	3	0	2	0	2	0	7	0	6	0	4	1	1	3	4	1	1	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:159779891A>T	ENST00000368106.3	+	6	895	c.894A>T	c.(892-894)caA>caT	p.Q298H	FCRL6_ENST00000321935.6_Missense_Mutation_p.Q305H|FCRL6_ENST00000392235.3_Missense_Mutation_p.Q203H|FCRL6_ENST00000339348.5_Missense_Mutation_p.Q298H	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	298						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CAGGTTCTCAAGTCTTGTTCA	0.507																																																	0													150	144	146					1																	159779891		2203	4300	6503	SO:0001583	missense	0			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.894A>T	1.37:g.159779891A>T	ENSP00000357086:p.Gln298His		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q298H	ENST00000368106.3	37	c.894	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.532740	0.45073	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.01139	5.37;5.28;5.77;5.31	4.17	-4.3	0.03710	.	3.757780	0.01028	N	0.004098	T	0.00440	0.0014	N	0.19112	0.55	0.09310	N	1	P;B;P;P	0.51791	0.948;0.004;0.875;0.924	P;B;B;P	0.47162	0.54;0.008;0.271;0.46	T	0.42189	-0.9466	10	0.44086	T	0.13	.	3.9229	0.09251	0.2919:0.0:0.4199:0.2882	.	298;203;298;305	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	H	305;298;203;298	ENSP00000320625:Q305H;ENSP00000340949:Q298H;ENSP00000376068:Q203H;ENSP00000357086:Q298H	ENSP00000320625:Q305H	Q	+	3	2	FCRL6	158046515	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.279000	0.18771	-0.571000	0.06014	0.482000	0.46254	CAA	FCRL6	-	NULL	ENSG00000181036		0.507	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	-	0	67	0	A	NM_001004310		159779891	1	tier1	-	no_errors	ENST00000368106	ensembl	human	known	74_37	missense	22.22	70	20	SNP	0.000	T	T	159779891	A	T	159779891	3	4	68	1	0	0	0	0	1	0	0	0	5821	69	3	5	916	5	FCRL6	1	159779891	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	1517947	159779891	89470730	11	18465											
IGSF9	57549	genome.wustl.edu	37	chr1	159898628	159898628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccatcacaaagcgcccGtctgggccccggcaaatggg	8	4	13	16	3	2	0	1	0	1	0	2	0	2	0	5	4	1	1	5	4	2	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:159898628G>A	ENST00000368094.1	-	19	2747	c.2550C>T	c.(2548-2550)gaC>gaT	p.D850D	IGSF9_ENST00000361509.3_Silent_p.D834D|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	850	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGCGCCCGTCTGGGCCCC	0.697																																																	0													6	7	6					1																	159898628		2142	4223	6365	SO:0001819	synonymous_variant	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2550C>T	1.37:g.159898628G>A				Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D850	ENST00000368094.1	37	c.2550	CCDS44254.1	1																																																																																			IGSF9	-	NULL	ENSG00000085552		0.697	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1		0	11	0	G	NM_020789		159898628	-1			no_errors	ENST00000368094	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	A	A	159898628	G	A	159898628	2	1	68	1	0	0	0	0	0	0	0	1	7632	1136	40	1		1	IGSF9	1	159898628	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	118737	159898628	89351993	12	18466											
ATP1A2	477	genome.wustl.edu	37	chr1	160105239	160105239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggagccattgtggccGtgacgggtgacggggtgaac	7	7	18	9	3	0	3	0	3	0	0	1	4	1	4	3	5	2	0	3	5	1	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:160105239G>A	ENST00000361216.3	+	16	2220	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.V711M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	711					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATTGTGGCCGTGACGGGTGA	0.602																																																	0													150	111	124					1																	160105239		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2131G>A	1.37:g.160105239G>A	ENSP00000354490:p.Val711Met		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.V711M	ENST00000361216.3	37	c.2131	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525318	0.85600	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.93488	-3.23;-3.23	4.31	4.31	0.51392	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92179	0.7520	N	0.16743	0.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.94202	0.7451	10	0.87932	D	0	.	16.0832	0.81020	0.0:0.0:1.0:0.0	.	611;711	F5GXJ7;P50993	.;AT1A2_HUMAN	M	711;711;414	ENSP00000354490:V711M;ENSP00000376066:V711M	ENSP00000354490:V711M	V	+	1	0	ATP1A2	158371863	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	9.567000	0.98161	2.383000	0.81215	0.561000	0.74099	GTG	ATP1A2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000018625		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0	88	0	G	NM_000702		160105239	1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	45.88	46	39	SNP	1.000	A	A	160105239	G	A	160105239	3	1	68	1	0	0	0	0	1	0	0	0	1130	1145	40	1	2193	1	ATP1A2	1	160105239	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	206611	160105239	89145382	13	18467											
USP21	27005	genome.wustl.edu	37	chr1	161132109	161132109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcactcgacctcttcGggacttctgtctgagaaggg	8	9	13	11	2	3	1	0	1	3	1	5	5	3	2	1	2	2	2	1	2	1	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:161132109G>A	ENST00000289865.8	+	4	931	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	USP21_ENST00000368001.1_Missense_Mutation_p.R237Q|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R237Q	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	237	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGACCTCTTCGGGACTTCTGT	0.587																																																	0													69	70	69					1																	161132109		2203	4300	6503	SO:0001583	missense	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"Ubiquitin-specific peptidases"	12620	protein-coding gene	gene with protein product		604729	"ubiquitin specific protease 21"	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.710G>A	1.37:g.161132109G>A	ENSP00000289865:p.Arg237Gln		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R237Q	ENST00000289865.8	37	c.710	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999503	0.74818	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.35048	1.33;1.33;1.33	4.69	4.69	0.59074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.318659	0.29100	N	0.013159	T	0.35828	0.0945	L	0.48642	1.525	0.49299	D	0.999779	D	0.71674	0.998	P	0.55112	0.769	T	0.12785	-1.0534	10	0.54805	T	0.06	.	14.652	0.68805	0.0:0.0:1.0:0.0	.	237	Q9UK80	UBP21_HUMAN	Q	237	ENSP00000356981:R237Q;ENSP00000289865:R237Q;ENSP00000356980:R237Q	ENSP00000289865:R237Q	R	+	2	0	USP21	159398733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.543000	0.90651	2.418000	0.82041	0.555000	0.69702	CGG	USP21	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000143258		0.587	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	-	0	48	0	G			161132109	1	tier1	-	no_errors	ENST00000289865	ensembl	human	known	74_37	missense	45.10	28	23	SNP	1.000	A	A	161132109	G	A	161132109	3	1	68	1	0	0	0	0	1	0	0	0	17102	1116	39	1	720	1	USP21	1	161132109	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1026870	161132109	88118512	14	18468											
FMO3	2328	genome.wustl.edu	37	chr1	171086394	171086394	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccttgtagtccctaccagTttaggctggtgggcccaggg	5	10	14	12	0	0	0	0	0	0	0	1	0	1	0	4	4	1	3	4	4	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:171086394T>G	ENST00000367755.4	+	9	1522	c.1411T>G	c.(1411-1413)Ttt>Gtt	p.F471V	FMO3_ENST00000538429.1_Missense_Mutation_p.F408V|FMO3_ENST00000392085.2_Missense_Mutation_p.F471V|FMO3_ENST00000542847.1_Missense_Mutation_p.F451V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	471					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TCCCTACCAGTTTAGGCTGGT	0.557																																																	0													81	75	77					1																	171086394		2203	4300	6503	SO:0001583	missense	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1411T>G	1.37:g.171086394T>G	ENSP00000356729:p.Phe471Val		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.F471V	ENST00000367755.4	37	c.1411	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.171281	0.94807	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.52	5.52	0.82312	.	0.104622	0.64402	D	0.000003	T	0.70281	0.3206	M	0.89904	3.07	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.963	P;P;P	0.62560	0.904;0.894;0.772	T	0.78658	-0.2118	10	0.87932	D	0	-10.5632	15.3134	0.74053	0.0:0.0:0.0:1.0	.	408;451;471	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	471;471;451;408	ENSP00000356729:F471V;ENSP00000375935:F471V;ENSP00000444073:F451V;ENSP00000439500:F408V	ENSP00000356729:F471V	F	+	1	0	FMO3	169353018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.260000	0.72502	2.076000	0.62316	0.533000	0.62120	TTT	FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000007933		0.557	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1		0	43	0	T	NM_006894		171086394	1			no_errors	ENST00000367755	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	G	G	171086394	T	G	171086394	3	3	68	1	0	0	0	0	1	0	0	0	5978	1725	60	4	1441	4	FMO3	1	171086394	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	9954285	171086394	78164227	15	18469											
ELK4	2005	genome.wustl.edu	37	chr1	205589938	205589938	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacaaacttgtacacaaacTtctgaccattcacttttttg	13	14	4	10	0	2	2	1	1	1	1	2	2	2	2	1	0	3	1	1	0	3	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:205589938T>G	ENST00000357992.4	-	3	575	c.236A>C	c.(235-237)aAg>aCg	p.K79T	ELK4_ENST00000289703.4_Missense_Mutation_p.K79T|ELK4_ENST00000468523.1_5'UTR	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	79					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTACACAAACTTCTGACCATT	0.338			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"ELK4, ETS-domain protein (SRF accessory protein 1)"		E	0													62	59	60					1																	205589938		2203	4300	6503	SO:0001583	missense	0			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.236A>C	1.37:g.205589938T>G	ENSP00000350681:p.Lys79Thr		P28323|Q6GSJ2	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K79T	ENST00000357992.4	37	c.236	CCDS1456.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554784	0.86231	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.27557	1.66;1.66	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.75947	-0.3138	10	0.87932	D	0	.	14.9939	0.71415	0.0:0.0:0.0:1.0	.	79;79	P28324-2;P28324	.;ELK4_HUMAN	T	169;79;79	ENSP00000350681:K79T;ENSP00000289703:K79T	ENSP00000289703:K79T	K	-	2	0	ELK4	203856561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.217000	0.71921	0.533000	0.62120	AAG	ELK4	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000158711		0.338	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK4	HGNC	protein_coding	OTTHUMT00000090615.1	-	0	25	0	T	NM_021795		205589938	-1	tier1	-	no_errors	ENST00000357992	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	G	G	205589938	T	G	205589938	3	3	68	1	0	0	0	0	1	0	0	0	5077	1609	56	4	1209	4	ELK4	1	205589938	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	34503544	205589938	43660683	16	18470											
LYST	1130	genome.wustl.edu	37	chr1	235827307	235827307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatgggcttatttgatttGggaaatgtaatttctctcac	10	17	9	5	0	2	2	1	2	1	0	3	3	2	3	0	2	0	2	0	2	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:235827307G>A	ENST00000389794.3	-	52	11418	c.11244C>T	c.(11242-11244)ccC>ccT	p.P3748P	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.P3748P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3748					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.P3748P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATTTGATTTGGGAAATGTAA	0.363																																																	1	Substitution - coding silent(1)	lung(1)											148	149	149					1																	235827307		2203	4300	6503	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11244C>T	1.37:g.235827307G>A			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P3748	ENST00000389794.3	37	c.11244	CCDS31062.1	1																																																																																			LYST	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143669		0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0	31	0	G			235827307	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.998	A	A	235827307	G	A	235827307	2	1	68	1	0	0	0	0	0	0	0	1	9164	1335	47	3		3	LYST	1	235827307	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	30237369	235827307	13423314	17	18471											
TRIM58	25893	genome.wustl.edu	37	chr1	248039573	248039573	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgctgcattgggattttcTtggactatgaagccggtgaa	8	13	12	8	2	1	2	0	2	1	0	2	4	1	4	1	3	2	2	1	3	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:248039573T>C	ENST00000366481.3	+	6	1291	c.1243T>C	c.(1243-1245)Ttg>Ctg	p.L415L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGATTTTCTTGGACTATGA	0.473																																																	0													167	173	171					1																	248039573		2203	4300	6503	SO:0001819	synonymous_variant	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1243T>C	1.37:g.248039573T>C			Q6B0H9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L415	ENST00000366481.3	37	c.1243	CCDS1636.1	1																																																																																			TRIM58	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162722		0.473	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	-	0	98	0	T	NM_015431		248039573	1	tier1	-	no_errors	ENST00000366481	ensembl	human	known	74_37	silent	12.24	86	12	SNP	0.883	C	C	248039573	T	C	248039573	2	2	68	1	0	0	0	0	0	0	0	1	16579	1606	56	4		4	TRIM58	1	248039573	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	12212266	248039573	1211048	18	18472											
APOB	338	genome.wustl.edu	37	chr2	21225692	21225692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccccggaaactggaatCtggggaagttcagaaaatca	13	9	11	8	1	3	1	2	0	1	1	4	4	4	4	2	4	1	2	2	4	5	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:21225692C>A	ENST00000233242.1	-	29	12729	c.12602G>T	c.(12601-12603)aGa>aTa	p.R4201I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4201					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACTGGAATCTGGGGAAGTT	0.433																																																	0													50	52	51					2																	21225692		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12602G>T	2.37:g.21225692C>A	ENSP00000233242:p.Arg4201Ile		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R4201I	ENST00000233242.1	37	c.12602	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542072	0.27563	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01076	5.37	5.99	1.1	0.20463	.	0.405903	0.23457	N	0.047973	T	0.01627	0.0052	L	0.46157	1.445	0.36246	D	0.853585	P	0.50272	0.933	P	0.45577	0.486	T	0.61608	-0.7028	10	0.87932	D	0	.	6.7947	0.23719	0.0:0.5483:0.1176:0.3341	.	4201	P04114	APOB_HUMAN	I	4201	ENSP00000233242:R4201I	ENSP00000233242:R4201I	R	-	2	0	APOB	21079197	0.930000	0.31532	0.361000	0.25849	0.078000	0.17371	0.163000	0.16520	0.122000	0.18314	-0.136000	0.14681	AGA	APOB	-	NULL	ENSG00000084674		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	18	0	C			21225692	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.331	A	A	21225692	C	A	21225692	3	1	68	1	0	0	0	0	1	0	0	0	785	913	32	3	1093	3	APOB	2	21225692	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09		21225692	221973681	19	18473											
GPN1	11321	genome.wustl.edu	37	chr2	27861756	27861756	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctctggtacagactgAcatcattgaccacagctttg	9	13	7	12	0	3	3	1	2	2	1	4	3	3	3	1	1	2	2	1	1	1	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:27861756A>C	ENST00000610189.1	+	9	582	c.575A>C	c.(574-576)gAc>gCc	p.D192A	GPN1_ENST00000424214.1_Missense_Mutation_p.D113A|GPN1_ENST00000407583.3_Missense_Mutation_p.D180A|GPN1_ENST00000458167.2_Missense_Mutation_p.D97A|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.D113A|GPN1_ENST00000503738.1_Missense_Mutation_p.D97A|GPN1_ENST00000264718.3_Missense_Mutation_p.D206A	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						GTACAGACTGACATCATTGAC	0.403																																																	0													110	97	102					2																	27861756		2203	4300	6503	SO:0001583	missense	0			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.575A>C	2.37:g.27861756A>C	ENSP00000476446:p.Asp192Ala			Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D206A	ENST00000610189.1	37	c.617		2	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805824	0.90623	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	H	0.97365	3.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.996	D	0.86355	0.1713	10	0.87932	D	0	-13.5629	13.6087	0.62063	1.0:0.0:0.0:0.0	.	192;206;97;180	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	A	113;97;97;113;180;206	ENSP00000424678:D113A;ENSP00000427269:D97A;ENSP00000412170:D97A;ENSP00000398115:D113A;ENSP00000384255:D180A;ENSP00000264718:D206A	ENSP00000264718:D206A	D	+	2	0	GPN1	27715260	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.604000	0.90877	2.238000	0.73509	0.533000	0.62120	GAC	GPN1	-	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000198522		0.403	GPN1-010	KNOWN	basic|appris_principal	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000473126.1		0	39	0	A	NM_007266		27861756	1			no_errors	ENST00000264718	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	C	C	27861756	A	C	27861756	3	2	68	1	0	0	0	0	1	0	0	0	6643	275	10	4	734	4	GPN1	2	27861756	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	6636064	27861756	215337617	20	18474											
XDH	7498	genome.wustl.edu	37	chr2	31567572	31567572	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaacccagtggcagacaAgctcactgtgtccatgtagg	13	8	10	10	0	1	1	1	0	0	1	2	1	2	1	2	2	2	3	2	2	4	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:31567572A>G	ENST00000379416.3	-	31	3430	c.3382T>C	c.(3382-3384)Ttg>Ctg	p.L1128L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1128					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTGGCAGACAAGCTCACTGTG	0.527																																					Colon(66;682 1445 30109 40147)												0													164	127	139					2																	31567572		2203	4300	6503	SO:0001819	synonymous_variant	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3382T>C	2.37:g.31567572A>G			Q16681|Q16712|Q4PJ16	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.L1128	ENST00000379416.3	37	c.3382	CCDS1775.1	2																																																																																			XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	90	0	A	NM_000379		31567572	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	silent	44.30	44	35	SNP	1.000	G	G	31567572	A	G	31567572	2	3	68	1	0	0	0	0	0	0	0	1	17475	69	3	4		4	XDH	2	31567572	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	3705816	31567572	211631801	21	18475											
PLEKHH2	130271	genome.wustl.edu	37	chr2	43931168	43931168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggtattcgaatgtctgagGccttcaatatggagagtgtt	10	13	12	6	1	2	2	1	1	1	1	3	4	2	2	1	3	0	2	1	3	4	5	rs145437024	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:43931168G>A	ENST00000282406.4	+	9	1809	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	567					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGTCTGAGGCCTTCAATAT	0.358													G|||	4	0.000798722	0	0	5008	,	,		17341	0		0.004	False		,,,				2504	0																0								G	THR/ALA	4,4402	6.2+/-15.9	0,4,2199	106	103	104		1699	5.2	1	2	dbSNP_134	104	48,8552	31.2+/-83.2	0,48,4252	yes	missense	PLEKHH2	NM_172069.3	58	0,52,6451	AA,AG,GG		0.5581,0.0908,0.3998	benign	567/1494	43931168	52,12954	2203	4300	6503	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1699G>A	2.37:g.43931168G>A	ENSP00000282406:p.Ala567Thr		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.A567T	ENST00000282406.4	37	c.1699	CCDS1812.1	2	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	14.55	2.567870	0.45798	9.08E-4	0.005581	ENSG00000152527	ENST00000282406	T	0.73047	-0.71	5.19	5.19	0.71726	.	0.195130	0.44483	D	0.000441	T	0.56775	0.2008	L	0.40543	1.245	0.37165	D	0.902761	B;B;B	0.18461	0.001;0.015;0.028	B;B;B	0.17979	0.01;0.014;0.02	T	0.60722	-0.7207	10	0.27785	T	0.31	-13.9038	19.0794	0.93175	0.0:0.0:1.0:0.0	.	567;4;567	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	T	567	ENSP00000282406:A567T	ENSP00000282406:A567T	A	+	1	0	PLEKHH2	43784672	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	6.685000	0.74543	2.577000	0.86979	0.655000	0.94253	GCC	PLEKHH2	-	NULL	ENSG00000152527		0.358	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0	41	0	G	NM_172069		43931168	1			no_errors	ENST00000282406	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.996	A	A	43931168	G	A	43931168	3	1	68	1	0	0	0	0	1	0	0	0	12116	1203	42	3	1729	3	PLEKHH2	2	43931168	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	12363596	43931168	199268205	22	18476											
MCFD2	90411	genome.wustl.edu	37	chr2	47136240	47136240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcaggctcctcagccctgGcgcctggggcacaaaaggcc	7	5	13	16	1	1	0	1	0	0	0	2	0	2	0	4	5	2	3	4	5	2	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:47136240G>A	ENST00000409105.1	-	3	250	c.71C>T	c.(70-72)gCc>gTc	p.A24V	MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.A24V|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000409207.1_Missense_Mutation_p.A24V|MCFD2_ENST00000409973.1_Missense_Mutation_p.A24V|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409218.1_Missense_Mutation_p.A24V|MCFD2_ENST00000444761.2_Intron|AC016722.4_ENST00000429761.1_RNA	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	24					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	CTCAGCCCTGGCGCCTGGGGC	0.582																																																	0													48	50	50					2																	47136240		2203	4300	6503	SO:0001583	missense	0			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"EF-hand domain containing"	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.71C>T	2.37:g.47136240G>A	ENSP00000386651:p.Ala24Val		A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.A24V	ENST00000409105.1	37	c.71	CCDS33192.1	2	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133189	0.21041	.	.	ENSG00000180398	ENST00000409105;ENST00000319466;ENST00000409207;ENST00000409973;ENST00000409218;ENST00000412438;ENST00000417180	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.36	3.4	0.38934	.	0.784175	0.12385	N	0.473523	T	0.75642	0.3877	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64132	-0.6479	10	0.49607	T	0.09	-10.0162	8.3066	0.32047	0.2611:0.0:0.7389:0.0	.	24	Q8NI22	MCFD2_HUMAN	V	24	ENSP00000386651:A24V;ENSP00000317271:A24V;ENSP00000386386:A24V;ENSP00000386279:A24V;ENSP00000386261:A24V;ENSP00000402717:A24V	ENSP00000317271:A24V	A	-	2	0	MCFD2	46989744	0.004000	0.15560	0.222000	0.23844	0.449000	0.32228	0.839000	0.27586	0.718000	0.32166	0.561000	0.74099	GCC	MCFD2	-	NULL	ENSG00000180398		0.582	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MCFD2	HGNC	protein_coding	OTTHUMT00000329518.1	-	0	55	0	G	NM_139279		47136240	-1	tier1	-	no_errors	ENST00000319466	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.003	A	A	47136240	G	A	47136240	3	1	68	1	0	0	0	0	1	0	0	0	9419	1203	42	3	381	3	MCFD2	2	47136240	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	3205072	47136240	196063133	23	18477											
MSH6	2956	genome.wustl.edu	37	chr2	48018227	48018227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgacagcccaacaagggGctgggttagcaaaaggcttt	12	8	13	8	0	0	2	0	2	0	0	0	2	0	2	1	4	3	4	1	4	5	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:48018227G>T	ENST00000234420.5	+	2	574	c.422G>T	c.(421-423)gGc>gTc	p.G141V	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	141	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAACAAGGGGCTGGGTTAGC	0.453			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											88	91	90					2																	48018227		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.422G>T	2.37:g.48018227G>T	ENSP00000234420:p.Gly141Val		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.G141V	ENST00000234420.5	37	c.422	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978632	0.92982	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.63	5.63	0.86233	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.87969	0.2735	10	0.72032	D	0.01	-14.445	19.6816	0.95965	0.0:0.0:1.0:0.0	.	141;141	P52701;P52701-2	MSH6_HUMAN;.	V	141;139;141;42;42;42	ENSP00000234420:G141V;ENSP00000397484:G42V;ENSP00000390382:G42V;ENSP00000406248:G42V	ENSP00000234420:G141V	G	+	2	0	MSH6	47871731	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.632000	0.89209	0.557000	0.71058	GGC	MSH6	-	pfam_PWWP_dom,smart_PWWP_dom,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	ENSG00000116062		0.453	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4		0	36	0	G	NM_000179		48018227	1			no_errors	ENST00000234420	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	48018227	G	T	48018227	3	4	68	1	0	0	0	0	1	0	0	0	9912	1203	42	3	428	3	MSH6	2	48018227	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	881987	48018227	195181146	24	18478											
ERLEC1	27248	genome.wustl.edu	37	chr2	54045062	54045062	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagtgatctgtaaaatcTtagatacagcagatgaaaat	16	11	7	7	0	2	4	0	2	2	2	3	4	3	4	1	0	2	2	1	0	6	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:54045062T>G	ENST00000185150.4	+	14	1539	c.1408T>G	c.(1408-1410)Tta>Gta	p.L470V	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L416V|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L444V	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	470					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CTGTAAAATCTTAGATACAGC	0.338																																																	0													136	136	136					2																	54045062		2203	4298	6501	SO:0001583	missense	0			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1408T>G	2.37:g.54045062T>G	ENSP00000185150:p.Leu470Val		B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L470V	ENST00000185150.4	37	c.1408	CCDS1848.1	2	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495922	0.64186	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.62232	0.04;0.73	5.99	4.85	0.62838	.	0.074129	0.56097	D	0.000033	T	0.72581	0.3478	.	.	.	0.25251	N	0.989675	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.989;0.952;0.996	T	0.63060	-0.6721	9	0.30854	T	0.27	-7.9615	8.8497	0.35192	0.0:0.1513:0.0:0.8487	.	416;444;470	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	V	444;470;416	ENSP00000385629:L444V;ENSP00000185150:L470V	ENSP00000185150:L470V	L	+	1	2	ERLEC1	53898566	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.726000	0.38085	1.102000	0.41551	0.533000	0.62120	TTA	ERLEC1	-	NULL	ENSG00000068912		0.338	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	-	0	58	0	T	NM_015701		54045062	1	tier1	-	no_errors	ENST00000185150	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	G	G	54045062	T	G	54045062	3	3	68	1	0	0	0	0	1	0	0	0	5247	1606	56	4	1462	4	ERLEC1	2	54045062	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	6026835	54045062	189154311	25	18479											
CCDC88A	55704	genome.wustl.edu	37	chr2	55563842	55563842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgaattttctctcagtGtttctattgttttttcaagc	6	22	5	8	0	5	1	2	1	3	0	7	1	5	1	0	0	1	2	0	0	3	8			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:55563842G>T	ENST00000436346.1	-	14	2472	c.1631C>A	c.(1630-1632)aCa>aAa	p.T544K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.T544K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T544K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T544K|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	544					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTCTCAGTGTTTCTATTGT	0.279																																																	0													75	78	77					2																	55563842		2201	4296	6497	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1631C>A	2.37:g.55563842G>T	ENSP00000410608:p.Thr544Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.T544K	ENST00000436346.1	37	c.1631		2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376391	0.82682	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.19	5.19	0.71726	.	0.000000	0.49305	U	0.000146	T	0.28333	0.0700	M	0.73962	2.25	0.80722	D	1	P;P;P	0.50528	0.936;0.675;0.554	P;B;B	0.51550	0.673;0.202;0.154	T	0.06006	-1.0851	10	0.16896	T	0.51	-12.5077	18.7035	0.91629	0.0:0.0:1.0:0.0	.	544;544;544	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	544	ENSP00000338728:T544K;ENSP00000263630:T544K;ENSP00000410608:T544K;ENSP00000404431:T544K	ENSP00000263630:T544K	T	-	2	0	CCDC88A	55417346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.583000	0.82559	2.426000	0.82243	0.585000	0.79938	ACA	CCDC88A	-	pfam_Hook-related_fam	ENSG00000115355		0.279	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding			0	39	0	G	NM_017571		55563842	-1			no_errors	ENST00000436346	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	55563842	G	T	55563842	3	4	68	1	0	0	0	0	1	0	0	0	2870	1377	48	3	4060	3	CCDC88A	2	55563842	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1518780	55563842	187635531	26	18480											
ETAA1	54465	genome.wustl.edu	37	chr2	67631302	67631302	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcaagacgaaattcaaaaTtgtatagttacatctaatct	17	14	4	6	1	4	1	2	0	2	1	4	2	4	1	0	0	1	2	0	0	8	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:67631302T>C	ENST00000272342.5	+	5	1618	c.1488T>C	c.(1486-1488)aaT>aaC	p.N496N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	496						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AAATTCAAAATTGTATAGTTA	0.279																																																	0													21	23	22					2																	67631302		2137	4255	6392	SO:0001819	synonymous_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1488T>C	2.37:g.67631302T>C			Q05BT7|Q53SC4	Silent	SNP	NULL	p.N496	ENST00000272342.5	37	c.1488	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.279	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1		0	28	0	T	NM_019002		67631302	1			no_errors	ENST00000272342	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.002	C	C	67631302	T	C	67631302	2	2	68	1	0	0	0	0	0	0	0	1	5283	1490	52	4		4	ETAA1	2	67631302	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	12067460	67631302	175568071	27	18481											
ETAA1	54465	genome.wustl.edu	37	chr2	67631322	67631322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatagttacatctaatcTgacaaaaataaaggaagata	19	12	6	4	0	2	2	0	1	2	1	2	3	2	3	0	1	1	2	0	1	10	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:67631322T>C	ENST00000272342.5	+	5	1638	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	503						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACATCTAATCTGACAAAAATA	0.289																																																	0													24	26	26					2																	67631322		2164	4276	6440	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1508T>C	2.37:g.67631322T>C	ENSP00000272342:p.Leu503Pro		Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.L503P	ENST00000272342.5	37	c.1508	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	T	1.100	-0.661442	0.03454	.	.	ENSG00000143971	ENST00000272342	T	0.23147	1.92	5.88	-0.406	0.12389	.	1.676730	0.03200	N	0.174691	T	0.28134	0.0694	M	0.62723	1.935	0.09310	N	0.999993	B	0.20671	0.047	B	0.20955	0.032	T	0.34576	-0.9823	10	0.66056	D	0.02	-19.4177	5.8713	0.18805	0.1299:0.3617:0.0:0.5084	.	503	Q9NY74	ETAA1_HUMAN	P	503	ENSP00000272342:L503P	ENSP00000272342:L503P	L	+	2	0	ETAA1	67484826	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.850000	0.27737	-0.066000	0.12998	-0.290000	0.09829	CTG	ETAA1	-	NULL	ENSG00000143971		0.289	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	33	0	T	NM_019002		67631322	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.000	C	C	67631322	T	C	67631322	3	2	68	1	0	0	0	0	1	0	0	0	5283	1580	55	4	1526	4	ETAA1	2	67631322	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	20	67631322	175568051	28	18482											
TTC31	64427	genome.wustl.edu	37	chr2	74718460	74718460	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgagagccccccatcCagccctggaaacccagttca	11	5	10	15	0	1	2	1	1	0	2	2	5	2	3	6	2	3	1	6	2	1	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:74718460C>A	ENST00000233623.5	+	7	649	c.642C>A	c.(640-642)tcC>tcA	p.S214S	TTC31_ENST00000442235.2_Silent_p.S70S|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000410003.1_Silent_p.S214S	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	214								p.S214S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCCCCCATCCAGCCCTGGAA	0.542																																																	1	Substitution - coding silent(1)	breast(1)											98	107	104					2																	74718460		1909	4116	6025	SO:0001819	synonymous_variant	0			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"Tetratricopeptide (TTC) repeat domain containing"	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.642C>A	2.37:g.74718460C>A			Q4KN40|Q53FD4|Q9H9F7	Silent	SNP	NULL	p.S70	ENST00000233623.5	37	c.210	CCDS42701.1	2																																																																																			TTC31	-	NULL	ENSG00000115282		0.542	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC31	HGNC	protein_coding	OTTHUMT00000328422.1		0	25	0	C	NM_022492		74718460	1			no_errors	ENST00000442235	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.002	A	A	74718460	C	A	74718460	2	1	68	1	0	0	0	0	0	0	0	1	16749	581	21	3		3	TTC31	2	74718460	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	7087138	74718460	168480913	29	18483											
YSK4	80122	genome.wustl.edu	37	chr2	135743638	135743638	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatttgatatgtgattgacTtatttgctaaactatcatga	13	17	6	5	0	1	4	1	4	0	0	1	4	1	4	0	0	2	1	0	0	5	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:135743638T>G	ENST00000375845.3	-	7	2834	c.2804A>C	c.(2803-2805)aAg>aCg	p.K935T	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K822T|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K952T|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	935							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGTGATTGACTTATTTGCTAA	0.313																																																	0													66	66	66					2																	135743638		2202	4299	6501	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2804A>C	2.37:g.135743638T>G	ENSP00000365005:p.Lys935Thr		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K935T	ENST00000375845.3	37	c.2804	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	T	0.477	-0.881591	0.02530	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72942	-0.58;-0.57;1.78;-0.7	4.73	2.31	0.28768	.	0.746757	0.11856	N	0.522900	T	0.59662	0.2210	L	0.47716	1.5	0.09310	N	0.999991	B;B;B	0.23806	0.041;0.091;0.055	B;B;B	0.19946	0.027;0.018;0.008	T	0.52457	-0.8573	10	0.54805	T	0.06	.	4.6854	0.12755	0.0:0.1661:0.1634:0.6705	.	822;952;935	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	T	935;822;952;325	ENSP00000365005:K935T;ENSP00000351140:K822T;ENSP00000376647:K952T;ENSP00000392827:K325T	ENSP00000351140:K822T	K	-	2	0	YSK4	135460108	0.029000	0.19370	0.002000	0.10522	0.013000	0.08279	-0.040000	0.12104	0.310000	0.22990	0.374000	0.22700	AAG	MAP3K19	-	NULL	ENSG00000176601		0.313	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1		0	65	0	T	NM_025052		135743638	-1			no_errors	ENST00000375845	ensembl	human	known	74_37	missense	6.98	39	3	SNP	0.040	G	G	135743638	T	G	135743638	3	3	68	1	0	0	0	0	1	0	0	0	17544	1609	56	4	1198	4	YSK4	2	135743638	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	61025178	135743638	107455735	30	18484											
LRP2	4036	genome.wustl.edu	37	chr2	170062083	170062083	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcacaatgggtacgcggaAgtttcctcccaatgtggctc	8	11	11	11	2	1	0	1	0	0	0	4	1	3	1	2	3	1	4	2	3	4	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:170062083A>C	ENST00000263816.3	-	41	7906	c.7621T>G	c.(7621-7623)Ttc>Gtc	p.F2541V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2541					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GGTACGCGGAAGTTTCCTCCC	0.488																																																	0													123	114	117					2																	170062083		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7621T>G	2.37:g.170062083A>C	ENSP00000263816:p.Phe2541Val		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.F2541V	ENST00000263816.3	37	c.7621	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567670	0.65651	.	.	ENSG00000081479	ENST00000263816	D	0.95656	-3.77	5.9	4.74	0.60224	Six-bladed beta-propeller, TolB-like (1);	0.092042	0.85682	D	0.000000	D	0.94775	0.8313	L	0.39898	1.24	0.80722	D	1	P	0.52170	0.951	P	0.58660	0.843	D	0.91970	0.5586	10	0.16896	T	0.51	.	11.9722	0.53069	0.9324:0.0:0.0676:0.0	.	2541	P98164	LRP2_HUMAN	V	2541	ENSP00000263816:F2541V	ENSP00000263816:F2541V	F	-	1	0	LRP2	169770329	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.339000	0.96797	1.050000	0.40346	0.459000	0.35465	TTC	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	69	0	A	NM_004525		170062083	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	C	C	170062083	A	C	170062083	3	2	68	1	0	0	0	0	1	0	0	0	8991	72	3	4	6502	4	LRP2	2	170062083	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	34318445	170062083	73137290	31	18485											
WDR75	84128	genome.wustl.edu	37	chr2	190340080	190340080	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatacatcagttgtcaaaAtctgaagaaaaagaactgag	19	10	7	5	0	3	4	2	2	1	2	3	4	3	4	0	0	2	1	0	0	8	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:190340080A>C	ENST00000314761.4	+	21	2490	c.2430A>C	c.(2428-2430)aaA>aaC	p.K810N		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	810						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AGTTGTCAAAATCTGAAGAAA	0.368																																																	0													53	53	53					2																	190340080		2203	4300	6503	SO:0001583	missense	0			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"WD repeat domain containing"	25725	protein-coding gene	gene with protein product	"UTP17, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2430A>C	2.37:g.190340080A>C	ENSP00000314193:p.Lys810Asn		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K810N	ENST00000314761.4	37	c.2430	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829813	0.71258	.	.	ENSG00000115368	ENST00000314761	T	0.64618	-0.11	5.36	2.91	0.33838	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	M	0.68952	2.095	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.71606	-0.4542	10	0.49607	T	0.09	-27.3905	10.0561	0.42246	0.861:0.0:0.139:0.0	.	810;810	A8K330;Q8IWA0	.;WDR75_HUMAN	N	810	ENSP00000314193:K810N	ENSP00000314193:K810N	K	+	3	2	WDR75	190048325	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.699000	0.47077	0.402000	0.25451	0.482000	0.46254	AAA	WDR75	-	NULL	ENSG00000115368		0.368	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	-	0	36	0	A	NM_032168		190340080	1	tier1	-	no_errors	ENST00000314761	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	C	C	190340080	A	C	190340080	3	2	68	1	0	0	0	0	1	0	0	0	17374	98	4	4	2512	4	WDR75	2	190340080	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	20277997	190340080	52859293	32	18486											
PLCL1	5334	genome.wustl.edu	37	chr2	198953695	198953695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgacaatactccttcagtCtcacttgtgatgaaagacag	13	11	8	9	0	2	4	2	3	1	1	4	4	3	4	1	0	1	0	1	0	3	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:198953695C>T	ENST00000428675.1	+	3	3227	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	PLCL1_ENST00000437704.2_Silent_p.V845V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	943					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTCCTTCAGTCTCACTTGTGA	0.458																																																	0													247	238	241					2																	198953695		2203	4300	6503	SO:0001819	synonymous_variant	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2829C>T	2.37:g.198953695C>T			Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V943	ENST00000428675.1	37	c.2829	CCDS2326.2	2																																																																																			PLCL1	-	NULL	ENSG00000115896		0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	59	0	C	NM_006226		198953695	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	silent	30.77	36	16	SNP	0.887	T	T	198953695	C	T	198953695	2	4	68	1	0	0	0	0	0	0	0	1	12078	900	32	3		3	PLCL1	2	198953695	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	8613615	198953695	44245678	33	18487											
IKZF2	22807	genome.wustl.edu	37	chr2	213872531	213872531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatggggccatccatgttGttttcatgactatcagcagt	9	13	11	8	0	2	2	2	1	0	1	3	3	3	2	2	2	1	3	2	2	1	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:213872531G>T	ENST00000434687.1	-	9	1443	c.1134C>A	c.(1132-1134)aaC>aaA	p.N378K	IKZF2_ENST00000374319.4_Missense_Mutation_p.N352K|IKZF2_ENST00000421754.2_Missense_Mutation_p.N304K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.N384K|IKZF2_ENST00000457361.1_Missense_Mutation_p.N378K|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Missense_Mutation_p.N306K|IKZF2_ENST00000374327.4_Missense_Mutation_p.N233K			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	378					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATCCATGTTGTTTTCATGAC	0.478																																																	0													101	91	94					2																	213872531		2203	4300	6503	SO:0001583	missense	0			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13177	protein-coding gene	gene with protein product		606234	"zinc finger protein, subfamily 1A, 2 (Helios)"	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1134C>A	2.37:g.213872531G>T	ENSP00000412869:p.Asn378Lys		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N378K	ENST00000434687.1	37	c.1134	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425224	0.25639	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.12879	3.39;3.36;3.39;3.43;3.38;3.43;2.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	M	0.70595	2.14	0.80722	D	1	D;D;D;P;D;D	0.89917	0.998;0.998;1.0;0.611;0.999;0.969	D;D;D;B;D;P	0.87578	0.969;0.994;0.998;0.343;0.993;0.687	T	0.01988	-1.1234	10	0.62326	D	0.03	-5.3403	13.8098	0.63256	0.0695:0.0:0.9305:0.0	.	306;304;233;352;378;156	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	K	378;384;378;352;306;304;233;82	ENSP00000410447:N378K;ENSP00000342876:N384K;ENSP00000412869:N378K;ENSP00000363439:N352K;ENSP00000395203:N306K;ENSP00000399574:N304K;ENSP00000363447:N233K	ENSP00000342876:N384K	N	-	3	2	IKZF2	213580776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.464000	0.73534	2.894000	0.99253	0.655000	0.94253	AAC	IKZF2	-	NULL	ENSG00000030419		0.478	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	-	0	44	0	G	NM_016260		213872531	-1	tier1	-	no_errors	ENST00000434687	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T	T	213872531	G	T	213872531	3	4	68	1	0	0	0	0	1	0	0	0	7642	1368	48	3	450	3	IKZF2	2	213872531	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	14918836	213872531	29326842	34	18488											
MARCH4	57574	genome.wustl.edu	37	chr2	217234868	217234868	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagcatgcggcagcggcacTtgaggagaccctggtggcgc	8	5	17	11	3	0	3	0	1	0	2	0	4	0	3	1	5	3	3	1	5	0	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:217234868T>G	ENST00000273067.4	-	1	1882	c.116A>C	c.(115-117)aAg>aCg	p.K39T		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	39						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCAGCGGCACTTGAGGAGACC	0.652																																																	0													16	18	18					2																	217234868		2200	4295	6495	SO:0001583	missense	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.116A>C	2.37:g.217234868T>G	ENSP00000273067:p.Lys39Thr		Q4KMN7|Q86WR8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.K39T	ENST00000273067.4	37	c.116	CCDS33376.1	2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193819	0.78902	.	.	ENSG00000144583	ENST00000273067	T	0.27890	1.64	5.24	5.24	0.73138	.	0.560795	0.20065	N	0.099993	T	0.46112	0.1376	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43653	-0.9378	10	0.87932	D	0	1.6755	14.4575	0.67425	0.0:0.0:0.0:1.0	.	39	Q9P2E8	MARH4_HUMAN	T	39	ENSP00000273067:K39T	ENSP00000273067:K39T	K	-	2	0	MARCH4	216943113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.195000	0.77798	2.196000	0.70406	0.482000	0.46254	AAG	MARCH4	-	NULL	ENSG00000144583		0.652	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0	48	0	T	NM_020814		217234868	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	G	G	217234868	T	G	217234868	3	3	68	1	0	0	0	0	1	0	0	0	9341	1609	56	4	1132	4	MARCH4	2	217234868	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	3362337	217234868	25964505	35	18489											
SCG2	7857	genome.wustl.edu	37	chr2	224463745	224463745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttgctgaagggggaCagagacaccttggtagggat	9	12	14	6	0	1	2	0	1	1	1	1	5	1	4	1	4	1	2	1	4	2	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:224463745C>T	ENST00000305409.2	-	2	488	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGAAGGGGGACAGAGACACCT	0.453																																																	0													116	120	119					2																	224463745		2203	4300	6503	SO:0001583	missense	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.256G>A	2.37:g.224463745C>T	ENSP00000304133:p.Val86Ile		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.V86I	ENST00000305409.2	37	c.256	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	C	0.529	-0.858837	0.02610	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.01725	4.67;4.67;4.67	5.5	2.43	0.29744	.	1.048460	0.07435	N	0.896277	T	0.01627	0.0052	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47368	-0.9123	10	0.07482	T	0.82	.	9.2091	0.37306	0.2365:0.4551:0.3085:0.0	.	86	P13521	SCG2_HUMAN	I	86	ENSP00000304133:V86I;ENSP00000394702:V86I;ENSP00000415468:V86I	ENSP00000304133:V86I	V	-	1	0	SCG2	224171989	0.003000	0.15002	0.532000	0.27989	0.188000	0.23474	0.424000	0.21330	0.732000	0.32470	0.585000	0.79938	GTC	SCG2	-	pfam_Granin	ENSG00000171951		0.453	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0	70	0	C	NM_003469		224463745	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	missense	18.31	58	13	SNP	0.251	T	T	224463745	C	T	224463745	3	4	68	1	0	0	0	0	1	0	0	0	13936	478	17	3	1601	3	SCG2	2	224463745	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	7228877	224463745	18735628	36	18490											
CHL1	10752	genome.wustl.edu	37	chr3	404935	404935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaacccctggagggcaGgcggtatcatatctatgaaa	13	8	12	8	1	2	2	1	2	1	0	2	3	2	3	2	4	1	2	2	4	5	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:404935G>A	ENST00000256509.2	+	14	2096	c.1454G>A	c.(1453-1455)aGg>aAg	p.R485K	CHL1_ENST00000397491.2_Missense_Mutation_p.R469K|CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAGGGCAGGCGGTATCAT	0.428																																																	0													112	103	106					3																	404935		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1454G>A	3.37:g.404935G>A	ENSP00000256509:p.Arg485Lys		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R485K	ENST00000256509.2	37	c.1454	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523856	0.44866	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.26957	1.7;1.7	5.11	0.579	0.17397	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.068410	0.07096	N	0.839518	T	0.15998	0.0385	N	0.25031	0.7	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.004	B;B;B	0.30943	0.122;0.122;0.026	T	0.40739	-0.9547	10	0.25751	T	0.34	.	1.0466	0.01571	0.2766:0.2005:0.3806:0.1424	.	469;469;485	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	K	485;469	ENSP00000256509:R485K;ENSP00000380628:R469K	ENSP00000256509:R485K	R	+	2	0	CHL1	379935	0.000000	0.05858	0.001000	0.08648	0.657000	0.38888	-0.345000	0.07770	0.229000	0.21039	0.650000	0.86243	AGG	CHL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134121		0.428	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0	62	0	G	NM_006614		404935	1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.000	A	A	404935	G	A	404935	3	1	68	1	0	0	0	0	1	0	0	0	3356	1000	35	3	1500	3	CHL1	3	404935	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09		404935	197617495	37	18491											
NUP210	23225	genome.wustl.edu	37	chr3	13429807	13429807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcgccccaggcccaccttgTagacagcctcctggatgcga	8	6	11	16	2	0	1	0	0	0	1	1	3	1	2	6	2	3	1	6	2	1	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:13429807T>C	ENST00000254508.5	-	5	762	c.680A>G	c.(679-681)tAc>tGc	p.Y227C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	227					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCCACCTTGTAGACAGCCTC	0.592																																																	0													80	78	79					3																	13429807		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.680A>G	3.37:g.13429807T>C	ENSP00000254508:p.Tyr227Cys		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.Y227C	ENST00000254508.5	37	c.680	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580006	0.46006	.	.	ENSG00000132182	ENST00000254508	T	0.08634	3.07	5.59	4.42	0.53409	.	0.059472	0.64402	D	0.000001	T	0.28863	0.0716	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01914	-1.1248	10	0.87932	D	0	0.0376	12.4786	0.55829	0.0:0.0:0.1402:0.8598	.	227	Q8TEM1	PO210_HUMAN	C	227	ENSP00000254508:Y227C	ENSP00000254508:Y227C	Y	-	2	0	NUP210	13404807	1.000000	0.71417	0.963000	0.40424	0.027000	0.11550	7.601000	0.82783	0.934000	0.37316	-0.321000	0.08615	TAC	NUP210	-	NULL	ENSG00000132182		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	23	0	T	NM_024923		13429807	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	C	C	13429807	T	C	13429807	3	2	68	1	0	0	0	0	1	0	0	0	10799	1638	57	4	5127	4	NUP210	3	13429807	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	13024872	13429807	184592623	38	18492											
SLC25A38	54977	genome.wustl.edu	37	chr3	39431019	39431019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggctttcctgtgtggcTccatcagtgggacctgctct	5	13	11	12	0	3	0	2	0	1	0	5	1	5	1	3	3	1	3	3	3	1	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:39431019T>A	ENST00000273158.4	+	2	480	c.103T>A	c.(103-105)Tcc>Acc	p.S35T		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGTGTGGCTCCATCAGTGG	0.517																																																	0													209	174	186					3																	39431019		2203	4300	6503	SO:0001583	missense	0			BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"Solute carriers"	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.103T>A	3.37:g.39431019T>A	ENSP00000273158:p.Ser35Thr			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S35T	ENST00000273158.4	37	c.103	CCDS2685.1	3	.	.	.	.	.	.	.	.	.	.	t	22.3	4.266292	0.80358	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.79653	-1.29;-1.29	4.77	4.77	0.60923	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	M	0.62088	1.915	0.47862	D	0.999536	D	0.67145	0.996	D	0.70487	0.969	D	0.87377	0.2354	10	0.56958	D	0.05	-25.1516	12.2936	0.54833	0.0:0.0:0.0:1.0	.	35	Q96DW6	S2538_HUMAN	T	35;31	ENSP00000273158:S35T;ENSP00000394244:S31T	ENSP00000273158:S35T	S	+	1	0	SLC25A38	39406023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.683000	0.61679	1.773000	0.52216	0.529000	0.55759	TCC	SLC25A38	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000144659		0.517	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A38	HGNC	protein_coding	OTTHUMT00000254057.3	-	0	91	0	T	NM_017875		39431019	1	tier1	-	no_errors	ENST00000273158	ensembl	human	known	74_37	missense	12.37	85	12	SNP	1.000	A	A	39431019	T	A	39431019	3	1	68	1	0	0	0	0	1	0	0	0	14547	1551	54	5	109	5	SLC25A38	3	39431019	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	26001212	39431019	158591411	39	18493											
ZNF167	55888	genome.wustl.edu	37	chr3	44612745	44612745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaccagagagtccacaccGgagagaaaccttatgaatgt	15	7	9	10	1	0	3	0	1	0	2	1	6	1	4	4	1	2	0	4	1	4	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:44612745G>A	ENST00000273320.3	+	6	2572	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G715R|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	715					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTCCACACCGGAGAGAAACC	0.453																																																	0													113	112	112					3																	44612745		2203	4300	6503	SO:0001583	missense	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2143G>A	3.37:g.44612745G>A	ENSP00000273320:p.Gly715Arg		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G715R	ENST00000273320.3	37	c.2143	CCDS2715.1	3	.	.	.	.	.	.	.	.	.	.	.	20.5	3.999358	0.74818	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.01629	4.72;4.72	4.2	4.2	0.49525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32533	N	0.005967	T	0.08670	0.0215	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.00456	-1.1728	10	0.66056	D	0.02	-9.1177	9.8708	0.41172	0.0992:0.0:0.9008:0.0	.	715	Q9P0L1	ZN167_HUMAN	R	715;715;153	ENSP00000395524:G715R;ENSP00000273320:G715R	ENSP00000273320:G715R	G	+	1	0	ZNF167	44587749	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.215000	0.72206	2.179000	0.69175	0.655000	0.94253	GGA	ZKSCAN7	-	pfscan_Znf_C2H2	ENSG00000196345		0.453	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN7	HGNC	protein_coding	OTTHUMT00000256752.4	-	0	87	0	G	NM_018651		44612745	1	tier1	-	no_errors	ENST00000273320	ensembl	human	known	74_37	missense	9.33	68	7	SNP	1.000	A	A	44612745	G	A	44612745	3	1	68	1	0	0	0	0	1	0	0	0	17789	1117	39	1	2161	1	ZNF167	3	44612745	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	5181726	44612745	153409685	40	18494											
ABHD6	57406	genome.wustl.edu	37	chr3	58270864	58270864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcataacaacttctaccgaaAgtgtaagtagccctactttc	13	12	5	11	1	2	0	1	0	1	0	3	1	2	0	2	0	5	2	2	0	7	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:58270864A>C	ENST00000478253.1	+	8	1235	c.734A>C	c.(733-735)aAg>aCg	p.K245T	ABHD6_ENST00000295962.4_Missense_Mutation_p.K245T			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	245					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTCTACCGAAAGTGTAAGTAG	0.413																																																	0													120	104	110					3																	58270864		2203	4300	6503	SO:0001583	missense	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.734A>C	3.37:g.58270864A>C	ENSP00000420315:p.Lys245Thr		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.K245T	ENST00000478253.1	37	c.734	CCDS2887.1	3	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632283	0.67015	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.67345	-0.26;-0.26	5.66	4.52	0.55395	.	0.135928	0.64402	D	0.000002	T	0.70316	0.3210	M	0.71036	2.16	0.38900	D	0.957293	P;P	0.44521	0.837;0.763	P;B	0.51582	0.674;0.288	T	0.68157	-0.5483	10	0.22706	T	0.39	-2.018	8.3386	0.32230	0.8482:0.0:0.1518:0.0	.	245;245	Q9BV23;F5H7L1	ABHD6_HUMAN;.	T	245	ENSP00000420315:K245T;ENSP00000295962:K245T	ENSP00000295962:K245T	K	+	2	0	ABHD6	58245904	0.997000	0.39634	0.601000	0.28877	0.925000	0.55904	3.311000	0.51919	0.992000	0.38840	0.533000	0.62120	AAG	ABHD6	-	pfam_Ndr	ENSG00000163686		0.413	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	-	0	102	0	A	NM_020676		58270864	1	tier1	-	no_errors	ENST00000295962	ensembl	human	known	74_37	missense	20.25	63	16	SNP	0.815	C	C	58270864	A	C	58270864	3	2	68	1	0	0	0	0	1	0	0	0	86	72	3	4	756	4	ABHD6	3	58270864	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	13658119	58270864	139751566	41	18495											
OR5H15	403274	genome.wustl.edu	37	chr3	97887762	97887762	+	Frame_Shift_Del	DEL	A	A	-																															gcttttgtggatgcttggatAtcatccacagtgaccccaaa																										TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:97887762delA	ENST00000356526.2	+	1	219	c.219delA	c.(217-219)atafs	p.I73fs		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATGCTTGGATATCATCCACAG	0.398																																																	0													73	74	74					3																	97887762		2202	4277	6479	SO:0001589	frameshift_variant	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"GPCR / Class A : Olfactory receptors"	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.219delA	3.37:g.97887762delA	ENSP00000373195:p.Ile73fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74fs	ENST00000356526.2	37	c.219	CCDS33799.1	3																																																																																			OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000233412		0.398	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1		0	95	0	A			97887762	1	tier1		no_errors	ENST00000356526	ensembl	human	known	74_37	frame_shift_del	10.16	115	13	DEL	0.009	-	-	97887762	A	-	97887762	7	5	68	1	0	1	0	1	0	0	0	0	11200	439	16	0	221	0	OR5H15	3	97887762	Frame_Shift_Del	DEL	A	TCGA-L5-A4OU-01A-11D-A28B-09	39616898	97887762	100134668	42	18496											
GPR15	2838	genome.wustl.edu	37	chr3	98251956	98251956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaggtctgtgtcacTctaaagggaactgtgacatt	12	10	13	6	0	3	2	1	1	2	1	3	5	3	4	0	3	1	0	0	3	4	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:98251956T>C	ENST00000284311.3	+	1	1214	c.1079T>C	c.(1078-1080)cTc>cCc	p.L360P		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	360					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TCTGTGTCACTCTAAAGGGAA	0.438																																																	0													49	51	51					3																	98251956		2202	4300	6502	SO:0001583	missense	0				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1079T>C	3.37:g.98251956T>C	ENSP00000284311:p.Leu360Pro		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.L360P	ENST00000284311.3	37	c.1079	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099408	0.37048	.	.	ENSG00000154165	ENST00000284311	T	0.69561	-0.41	5.08	5.08	0.68730	.	0.000000	0.44097	D	0.000486	T	0.62208	0.2409	N	0.24115	0.695	0.58432	D	0.999998	P	0.51791	0.948	P	0.52267	0.694	T	0.66976	-0.5787	10	0.87932	D	0	.	11.4276	0.50020	0.0:0.0:0.0:1.0	.	360	P49685	GPR15_HUMAN	P	360	ENSP00000284311:L360P	ENSP00000284311:L360P	L	+	2	0	GPR15	99734646	1.000000	0.71417	0.999000	0.59377	0.319000	0.28217	3.419000	0.52728	2.263000	0.75096	0.533000	0.62120	CTC	GPR15	-	NULL	ENSG00000154165		0.438	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1		0	39	0	T			98251956	1			no_errors	ENST00000284311	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	C	C	98251956	T	C	98251956	3	2	68	1	0	0	0	0	1	0	0	0	6681	1551	54	4	1081	4	GPR15	3	98251956	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	364194	98251956	99770474	43	18497											
IMPG2	50939	genome.wustl.edu	37	chr3	100976579	100976579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtattgctgatggccTcaccattgaaggtaactgca	10	11	12	8	0	1	2	1	2	0	0	1	2	1	2	2	4	3	4	2	4	3	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:100976579T>C	ENST00000193391.7	-	10	1134	c.947A>G	c.(946-948)gAg>gGg	p.E316G		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	316	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCTGATGGCCTCACCATTGAA	0.453																																																	0													151	138	142					3																	100976579		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.947A>G	3.37:g.100976579T>C	ENSP00000193391:p.Glu316Gly		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.E316G	ENST00000193391.7	37	c.947	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810491	0.70797	.	.	ENSG00000081148	ENST00000193391	T	0.31510	1.49	5.38	5.38	0.77491	SEA (2);	0.072600	0.56097	D	0.000029	T	0.46308	0.1386	L	0.52364	1.645	0.41018	D	0.985059	D;D	0.63880	0.993;0.993	P;P	0.61070	0.883;0.883	T	0.46748	-0.9169	10	0.72032	D	0.01	-5.4636	13.961	0.64180	0.0:0.0:0.0:1.0	.	316;316	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	G	316	ENSP00000193391:E316G	ENSP00000193391:E316G	E	-	2	0	IMPG2	102459269	0.540000	0.26410	0.976000	0.42696	0.555000	0.35460	2.454000	0.44979	2.040000	0.60383	0.260000	0.18958	GAG	IMPG2	-	pfam_SEA_dom,smart_SEA_dom	ENSG00000081148		0.453	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0	33	0	T			100976579	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.988	C	C	100976579	T	C	100976579	3	2	68	1	0	0	0	0	1	0	0	0	7756	1551	54	4	2818	4	IMPG2	3	100976579	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	2724623	100976579	97045851	44	18498											
KIAA1407	57577	genome.wustl.edu	37	chr3	113729737	113729737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgcagcagtgcatccatcTtcttcctagtttcctctttt	5	17	5	14	0	3	0	0	0	3	0	6	0	6	0	4	0	3	4	4	0	1	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:113729737T>G	ENST00000295878.3	-	9	1441	c.1295A>C	c.(1294-1296)aAg>aCg	p.K432T	KIAA1407_ENST00000545063.1_Missense_Mutation_p.K263T	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	432										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCATCCATCTTCTTCCTAGT	0.527																																																	0													162	142	149					3																	113729737		2203	4300	6503	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1295A>C	3.37:g.113729737T>G	ENSP00000295878:p.Lys432Thr		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.K432T	ENST00000295878.3	37	c.1295	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423853	0.62733	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.69306	0.37;-0.39;-0.21	6.03	3.66	0.41972	.	0.135175	0.64402	D	0.000003	T	0.78591	0.4307	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.955;0.981;0.981	T	0.78001	-0.2375	10	0.72032	D	0.01	.	9.6349	0.39802	0.0:0.1427:0.0:0.8573	.	419;308;432	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	T	432;263;419	ENSP00000295878:K432T;ENSP00000446381:K263T;ENSP00000418099:K419T	ENSP00000295878:K432T	K	-	2	0	KIAA1407	115212427	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	2.167000	0.42415	0.529000	0.28599	0.533000	0.62120	AAG	KIAA1407	-	NULL	ENSG00000163617		0.527	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0	27	0	T	NM_020817		113729737	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	G	G	113729737	T	G	113729737	3	3	68	1	0	0	0	0	1	0	0	0	8256	1609	56	4	1551	4	KIAA1407	3	113729737	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	12753158	113729737	84292693	45	18499											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133553	119133553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccaccctgaaagacgCgcacaaggcccaggtacagg	11	4	10	16	2	1	2	0	1	1	1	2	2	1	2	3	3	1	2	3	3	3	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:119133553C>T	ENST00000264245.4	+	12	3309	c.2777C>T	c.(2776-2778)gCg>gTg	p.A926V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	926					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTGAAAGACGCGCACAAGGCC	0.602																																					Pancreas(7;176 297 5394 51128 51241)												0																																										SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2777C>T	3.37:g.119133553C>T	ENSP00000264245:p.Ala926Val		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A926V	ENST00000264245.4	37	c.2777	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.100054	0.00360	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.04654	3.58	4.87	0.668	0.17912	.	0.935480	0.08872	N	0.881446	T	0.01592	0.0051	N	0.01576	-0.805	0.20926	N	0.999825	B	0.02656	0.0	B	0.01281	0.0	T	0.45338	-0.9268	10	0.02654	T	1	.	7.028	0.24950	0.0:0.0774:0.3035:0.6191	.	926	Q2M1Z3	RHG31_HUMAN	V	926	ENSP00000264245:A926V	ENSP00000264245:A926V	A	+	2	0	ARHGAP31	120616243	0.002000	0.14202	0.051000	0.19133	0.112000	0.19704	0.404000	0.20999	0.010000	0.14839	-1.157000	0.01802	GCG	ARHGAP31	-	NULL	ENSG00000031081		0.602	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	-	0	35	0	C			119133553	1	tier1	-	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.890	T	T	119133553	C	T	119133553	3	4	68	1	0	0	0	0	1	0	0	0	880	768	27	1	2823	1	ARHGAP31	3	119133553	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	5403816	119133553	78888877	46	18500											
HEG1	57493	genome.wustl.edu	37	chr3	124739730	124739730	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctggattcccagttacTctactgtttcttctcgattc	5	17	5	14	1	3	0	0	0	3	0	7	2	5	1	3	1	2	2	3	1	2	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:124739730T>C	ENST00000311127.4	-	4	1225	c.1158A>G	c.(1156-1158)agA>agG	p.R386R	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	386					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCCCAGTTACTCTACTGTTTC	0.458																																																	0													92	94	93					3																	124739730		1917	4121	6038	SO:0001819	synonymous_variant	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"heart of glass"	614182	"HEG homolog 1 (zebrafish)"			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1158A>G	3.37:g.124739730T>C			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.R386	ENST00000311127.4	37	c.1158	CCDS46898.1	3																																																																																			HEG1	-	NULL	ENSG00000173706		0.458	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	-	0	52	0	T	XM_087386		124739730	-1	tier1	-	no_errors	ENST00000311127	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.000	C	C	124739730	T	C	124739730	2	2	68	1	0	0	0	0	0	0	0	1	7071	1548	54	4		4	HEG1	3	124739730	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	5606177	124739730	73282700	47	18501											
CPNE4	131034	genome.wustl.edu	37	chr3	131268914	131268914	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgataggcttccacaacTccttgaattcctgaggtgaa	10	12	8	11	0	1	4	0	4	1	0	4	4	4	4	3	2	1	1	3	2	4	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:131268914T>G	ENST00000512055.1	-	18	3305	c.1179A>C	c.(1177-1179)ggA>ggC	p.G393G	CPNE4_ENST00000512332.1_Silent_p.G411G|CPNE4_ENST00000502818.1_Silent_p.G411G|CPNE4_ENST00000429747.1_Silent_p.G393G|CPNE4_ENST00000511604.1_Silent_p.G393G			Q96A23	CPNE4_HUMAN	copine IV	393	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTTCCACAACTCCTTGAATTC	0.448																																																	0													103	101	101					3																	131268914		2203	4300	6503	SO:0001819	synonymous_variant	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1179A>C	3.37:g.131268914T>G			D3DNC5|Q8TEX1	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.G411	ENST00000512055.1	37	c.1233	CCDS3072.1	3																																																																																			CPNE4	-	pfam_Copine,smart_VWF_A	ENSG00000196353		0.448	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4		0	39	0	T	NM_130808		131268914	-1			no_errors	ENST00000502818	ensembl	human	known	74_37	silent	15.94	57	11	SNP	0.954	G	G	131268914	T	G	131268914	2	3	68	1	0	0	0	0	0	0	0	1	3821	1538	54	4		4	CPNE4	3	131268914	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	6529184	131268914	66753516	48	18502											
ATR	545	genome.wustl.edu	37	chr3	142272730	142272730	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttgatatttccactaaaAgccactctaacatctttgtc	11	15	4	11	0	2	1	0	1	2	0	4	1	3	1	2	0	3	1	2	0	4	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:142272730A>C	ENST00000350721.4	-	11	2590	c.2469T>G	c.(2467-2469)gcT>gcG	p.A823A	ATR_ENST00000383101.3_Silent_p.A759A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	823					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCCACTAAAAGCCACTCTAA	0.318								Other conserved DNA damage response genes																																									0													72	75	74					3																	142272730		2202	4299	6501	SO:0001819	synonymous_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2469T>G	3.37:g.142272730A>C			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.A823	ENST00000350721.4	37	c.2469	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000175054		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	-	0	47	0	A	NM_001184		142272730	-1	tier1	-	no_errors	ENST00000350721	ensembl	human	known	74_37	silent	12.07	51	7	SNP	1.000	C	C	142272730	A	C	142272730	2	2	68	1	0	0	0	0	0	0	0	1	1205	59	3	4		4	ATR	3	142272730	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	11003816	142272730	55749700	49	18503											
PLOD2	5352	genome.wustl.edu	37	chr3	145790411	145790411	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaccaattcatcacaggcTttttcagaaaatatggggaa	14	12	7	8	0	4	1	3	0	1	1	4	2	4	2	1	3	1	1	1	3	6	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:145790411T>C	ENST00000360060.3	-	16	1899	c.1722A>G	c.(1720-1722)aaA>aaG	p.K574K	PLOD2_ENST00000494950.1_Silent_p.K540K|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Silent_p.K255K|PLOD2_ENST00000282903.5_Silent_p.K595K	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	574					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CATCACAGGCTTTTTCAGAAA	0.348																																																	0													95	88	91					3																	145790411		2203	4299	6502	SO:0001819	synonymous_variant	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1722A>G	3.37:g.145790411T>C			B3KWS3|Q59ED2|Q8N170	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.K595	ENST00000360060.3	37	c.1785	CCDS3131.1	3																																																																																			PLOD2	-	smart_Pro_4_hyd_alph	ENSG00000152952		0.348	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1	-	0	45	0	T	NM_000935		145790411	-1	tier1	-	no_errors	ENST00000282903	ensembl	human	known	74_37	silent	17.78	37	8	SNP	0.994	C	C	145790411	T	C	145790411	2	2	68	1	0	0	0	0	0	0	0	1	12141	1606	56	4		4	PLOD2	3	145790411	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	3517681	145790411	52232019	50	18504											
FAM194A	131831	genome.wustl.edu	37	chr3	150387187	150387187	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttggactatacaagtaaaAccatttaccttgttgggcac	12	13	7	9	0	1	0	0	0	1	0	1	1	1	1	2	2	3	3	2	2	6	8			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:150387187A>C	ENST00000295910.6	-	12	1447	c.1395T>G	c.(1393-1395)ggT>ggG	p.G465G	FAM194A_ENST00000491361.1_Silent_p.G319G	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TACAAGTAAAACCATTTACCT	0.423																																																	0													194	177	183					3																	150387187		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000295910.6:c.1395T>G	3.37:g.150387187A>C				Silent	SNP	NULL	p.G465	ENST00000295910.6	37	c.1395	CCDS3151.2	3																																																																																			FAM194A	-	NULL	ENSG00000163645		0.423	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	-	0	60	0	A			150387187	-1	tier1	-	no_errors	ENST00000295910	ensembl	human	known	74_37	silent	10.34	78	9	SNP	0.259	C	C	150387187	A	C	150387187	2	2	68	1	0	0	0	0	0	0	0	1	5545	30	2	4		4	FAM194A	3	150387187	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	4596776	150387187	47635243	51	18505											
MED12L	116931	genome.wustl.edu	37	chr3	151107893	151107893	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagccccagcagcccggcTttttccttcagaaccaatct	8	9	7	17	1	2	1	1	0	1	1	3	1	3	1	6	1	4	2	6	1	2	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:151107893T>G	ENST00000474524.1	+	36	5511	c.5473T>G	c.(5473-5475)Ttt>Gtt	p.F1825V	MED12L_ENST00000273432.4_Missense_Mutation_p.F1685V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1825						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCCCGGCTTTTTCCTTCA	0.498																																																	0													145	158	154					3																	151107893		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5473T>G	3.37:g.151107893T>G	ENSP00000417235:p.Phe1825Val		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.F1825V	ENST00000474524.1	37	c.5473	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743514	0.49151	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59083	0.51;0.29	5.75	4.59	0.56863	Mediator complex, subunit Med12, catenin-binding (1);	0.104489	0.64402	D	0.000004	T	0.53818	0.1820	L	0.57536	1.79	0.37887	D	0.930585	B;B	0.20780	0.048;0.037	B;B	0.25759	0.015;0.063	T	0.56535	-0.7963	10	0.62326	D	0.03	-13.6606	10.3295	0.43814	0.0:0.0755:0.0:0.9245	.	1685;1825	F8WAE6;Q86YW9	.;MD12L_HUMAN	V	1825;1685	ENSP00000417235:F1825V;ENSP00000273432:F1685V	ENSP00000273432:F1685V	F	+	1	0	MED12L	152590583	1.000000	0.71417	0.945000	0.38365	0.989000	0.77384	3.022000	0.49659	0.992000	0.38840	0.533000	0.62120	TTT	MED12L	-	pfam_Mediator_Med12_catenin-bd	ENSG00000144893		0.498	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	37	0	T	NM_053002		151107893	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	G	G	151107893	T	G	151107893	3	3	68	1	0	0	0	0	1	0	0	0	9467	1609	56	4	5615	4	MED12L	3	151107893	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	720706	151107893	46914537	52	18506											
IGSF10	285313	genome.wustl.edu	37	chr3	151164487	151164487	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgatgggactctagcAatgtcagctttggggaaggt	8	13	13	7	0	4	1	1	1	3	0	4	3	4	3	0	4	2	2	0	4	3	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:151164487A>G	ENST00000282466.3	-	4	3281	c.3282T>C	c.(3280-3282)atT>atC	p.I1094I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1094					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGACTCTAGCAATGTCAGCTT	0.468																																																	0													139	142	141					3																	151164487		2203	4300	6503	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3282T>C	3.37:g.151164487A>G			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I1094	ENST00000282466.3	37	c.3282	CCDS3160.1	3																																																																																			IGSF10	-	NULL	ENSG00000152580		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	58	0	A	NM_178822		151164487	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.000	G	G	151164487	A	G	151164487	2	3	68	1	0	0	0	0	0	0	0	1	7624	126	5	4		4	IGSF10	3	151164487	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	56594	151164487	46857943	53	18507											
EIF5A2	56648	genome.wustl.edu	37	chr3	170612162	170612162	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttaagatcctcacgaacTtcaccagtttctgtcagcag	11	12	7	11	1	4	1	3	0	1	1	5	2	5	1	2	0	2	3	2	0	2	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:170612162T>G	ENST00000295822.2	-	4	506	c.321A>C	c.(319-321)gaA>gaC	p.E107D	EIF5A2_ENST00000460117.1_5'UTR|EIF5A2_ENST00000487522.1_Intron|EIF5A2_ENST00000474096.1_Missense_Mutation_p.K94T	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	107					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CCTCACGAACTTCACCAGTTT	0.378																																																	0													173	170	171					3																	170612162		2203	4300	6503	SO:0001583	missense	0			AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.321A>C	3.37:g.170612162T>G	ENSP00000295822:p.Glu107Asp		B2R4V5	Missense_Mutation	SNP	pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	p.E107D	ENST00000295822.2	37	c.321	CCDS3214.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.64|12.64	1.999997|1.999997	0.35320|0.35320	.|.	.|.	ENSG00000163577|ENSG00000163577	ENST00000295822;ENST00000474417|ENST00000474096	T;T|T	0.42131|0.46063	0.98;1.0|0.88	6.16|6.16	2.51|2.51	0.30379|0.30379	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);|.	0.143152|.	0.48767|.	N|.	0.000173|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.02169|0.02169	-0.655|-0.655	0.22926|0.22926	N|N	0.998552|0.998552	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.17137|0.17137	-1.0379|-1.0379	10|7	0.05721|0.87932	T|D	0.95|0	-0.9905|-0.9905	5.1161|5.1161	0.14834|0.14834	0.1216:0.196:0.0:0.6824|0.1216:0.196:0.0:0.6824	.|.	107|.	Q9GZV4|.	IF5A2_HUMAN|.	D|T	107;88|94	ENSP00000295822:E107D;ENSP00000417133:E88D|ENSP00000418370:K94T	ENSP00000295822:E107D|ENSP00000418370:K94T	E|K	-|-	3|2	2|0	EIF5A2|EIF5A2	172094856|172094856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.681000|0.681000	0.25320|0.25320	0.203000|0.203000	0.20529|0.20529	0.528000|0.528000	0.53228|0.53228	GAA|AAG	EIF5A2	-	pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	ENSG00000163577		0.378	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5A2	HGNC	protein_coding	OTTHUMT00000352681.1	-	0	81	0	T			170612162	-1	tier1	-	no_errors	ENST00000295822	ensembl	human	known	74_37	missense	14.94	74	13	SNP	0.999	G	G	170612162	T	G	170612162	3	3	68	1	0	0	0	0	1	0	0	0	5058	1606	56	4	148	4	EIF5A2	3	170612162	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	19447675	170612162	27410268	54	18508											
HTR3E	285242	genome.wustl.edu	37	chr3	183824434	183824434	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttccgcctctacctgctcTtcatggcctcctctatcatc	4	15	4	18	1	6	0	2	0	4	0	9	0	8	0	5	1	2	1	5	1	2	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:183824434T>G	ENST00000415389.2	+	9	1790	c.1324T>G	c.(1324-1326)Ttc>Gtc	p.F442V	HTR3E_ENST00000440596.2_Missense_Mutation_p.F468V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.F442V|HTR3E_ENST00000335304.2_Missense_Mutation_p.F457V|HTR3E_ENST00000425359.2_Missense_Mutation_p.F427V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	442					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTACCTGCTCTTCATGGCCTC	0.592																																					Melanoma(7;227 727 6634 44770)												0													187	166	173					3																	183824434		2203	4300	6503	SO:0001583	missense	0			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"5-HT (serotonin) receptors", "Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"	24005	protein-coding gene	gene with protein product		610123	"5-hydroxytryptamine (serotonin) receptor 3, family member E"			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1324T>G	3.37:g.183824434T>G	ENSP00000401444:p.Phe442Val		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.F457V	ENST00000415389.2	37	c.1369	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	t	12.40	1.925722	0.34002	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	3.7	2.53	0.30540	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.53938	U	0.000041	D	0.84857	0.5565	L	0.60012	1.86	0.09310	N	1	B;D;D;D;D	0.71674	0.137;0.998;0.998;0.998;0.995	B;D;D;D;D	0.70487	0.068;0.968;0.969;0.969;0.928	T	0.72593	-0.4246	10	0.20519	T	0.43	.	5.6	0.17349	0.0:0.1277:0.0:0.8723	.	468;442;442;457;427	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	442;427;457;442;468	ENSP00000401444:F442V;ENSP00000401900:F427V;ENSP00000335511:F457V;ENSP00000395833:F442V;ENSP00000406050:F468V	ENSP00000335511:F457V	F	+	1	0	HTR3E	185307128	0.001000	0.12720	0.978000	0.43139	0.969000	0.65631	-0.082000	0.11304	0.585000	0.29608	0.533000	0.62120	TTC	HTR3E	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000186038		0.592	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	-	0	79	0	T	NM_182589		183824434	1	tier1	-	no_errors	ENST00000335304	ensembl	human	known	74_37	missense	7.22	90	7	SNP	0.369	G	G	183824434	T	G	183824434	3	3	68	1	0	0	0	0	1	0	0	0	7475	1609	56	4	1399	4	HTR3E	3	183824434	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	13212272	183824434	14197996	55	18509											
CRMP1	1400	genome.wustl.edu	37	chr4	5838626	5838626	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgctgcctgtgacctgcaAgtccccactggcaaggacaa	9	6	11	15	1	0	1	0	1	0	0	1	2	1	2	5	2	2	3	5	2	3	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:5838626A>G	ENST00000397890.2	-	10	1190	c.976T>C	c.(976-978)Ttg>Ctg	p.L326L	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.L324L|CRMP1_ENST00000324989.7_Silent_p.L440L	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	326					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTGACCTGCAAGTCCCCACTG	0.542																																																	0													86	76	79					4																	5838626		2203	4300	6503	SO:0001819	synonymous_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.976T>C	4.37:g.5838626A>G			A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L440	ENST00000397890.2	37	c.1318	CCDS43207.1	4																																																																																			CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.542	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	-	0	58	0	A	NM_001313		5838626	-1	tier1	-	no_errors	ENST00000324989	ensembl	human	known	74_37	silent	15.79	48	9	SNP	1.000	G	G	5838626	A	G	5838626	2	3	68	1	0	0	0	0	0	0	0	1	3897	69	3	4		4	CRMP1	4	5838626	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09		5838626	185315650	56	18510											
TECRL	253017	genome.wustl.edu	37	chr4	65170930	65170930	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtagtaggcaatccaagaAgtaaatccccagtaaaaggc	17	7	9	8	0	0	1	0	0	0	1	2	1	2	1	3	2	0	5	3	2	9	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:65170930A>G	ENST00000381210.3	-	7	794	c.684T>C	c.(682-684)acT>acC	p.T228T	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.T228T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	228					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAATCCAAGAAGTAAATCCCC	0.308																																																	0													138	144	142					4																	65170930		2203	4299	6502	SO:0001819	synonymous_variant	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.684T>C	4.37:g.65170930A>G				Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.T228	ENST00000381210.3	37	c.684	CCDS33990.1	4																																																																																			TECRL	-	pfam_3-oxo-5_a-steroid_4-DH_C	ENSG00000205678		0.308	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	28	0	A	NM_001010874		65170930	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.998	G	G	65170930	A	G	65170930	2	3	68	1	0	0	0	0	0	0	0	1	15793	59	3	4		4	TECRL	4	65170930	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	59332304	65170930	125983346	57	18511											
PARM1	25849	genome.wustl.edu	37	chr4	75938258	75938258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaggagaaaacacccccaAcaactgtgtcaggcaaagtg	15	4	9	13	0	1	1	1	0	0	1	1	2	1	1	3	2	3	1	3	2	5	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:75938258A>G	ENST00000307428.7	+	2	879	c.667A>G	c.(667-669)Aca>Gca	p.T223A	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	223					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AACACCCCCAACAACTGTGTC	0.532																																																	0													102	110	107					4																	75938258		2090	4219	6309	SO:0001583	missense	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.667A>G	4.37:g.75938258A>G	ENSP00000370224:p.Thr223Ala		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.T223A	ENST00000307428.7	37	c.667	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	A	1.189	-0.635864	0.03584	.	.	ENSG00000169116	ENST00000307428	T	0.40756	1.02	5.54	-0.819	0.10829	.	1.008970	0.07953	N	0.981253	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28459	-1.0043	10	0.07990	T	0.79	-0.8595	9.2289	0.37425	0.5536:0.0:0.4464:0.0	.	223	Q6UWI2	PARM1_HUMAN	A	223	ENSP00000370224:T223A	ENSP00000370224:T223A	T	+	1	0	PARM1	76157282	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.265000	0.18515	-0.589000	0.05874	-0.385000	0.06624	ACA	PARM1	-	NULL	ENSG00000169116		0.532	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	-	0	30	0	A	NM_015393		75938258	1	tier1	-	no_errors	ENST00000307428	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.000	G	G	75938258	A	G	75938258	3	3	68	1	0	0	0	0	1	0	0	0	11491	43	2	4	673	4	PARM1	4	75938258	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	10767328	75938258	115216018	58	18512											
HNRPDL	9987	genome.wustl.edu	37	chr4	83347753	83347753	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catatccttgatcataatagTtattaaatccttggttccag	12	16	5	8	0	1	1	1	1	0	0	4	1	4	1	3	1	0	2	3	1	6	8			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:83347753T>G	ENST00000295470.5	-	6	1230	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	HNRNPDL_ENST00000502762.1_Missense_Mutation_p.N352T|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.N233T|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	352	Gly-rich.|Necessary for interaction with TNPO1.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										ATCATAATAGTTATTAAATCC	0.378																																																	0													107	102	103					4																	83347753		2203	4300	6503	SO:0001583	missense	0			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"RNA binding motif (RRM) containing"	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1055A>C	4.37:g.83347753T>G	ENSP00000295470:p.Asn352Thr		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N352T	ENST00000295470.5	37	c.1055	CCDS3593.1	4	.	.	.	.	.	.	.	.	.	.	t	18.13	3.555103	0.65425	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.87179	-2.22;-2.22	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.93676	0.6994	10	0.56958	D	0.05	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	352	O14979	HNRDL_HUMAN	T	352	ENSP00000295470:N352T;ENSP00000422040:N352T	ENSP00000295470:N352T	N	-	2	0	HNRPDL	83566777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.927000	0.70080	2.317000	0.78254	0.459000	0.35465	AAC	HNRNPDL	-	NULL	ENSG00000152795		0.378	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPDL	HGNC	protein_coding	OTTHUMT00000252644.1		0	43	0	T	NM_005463		83347753	-1			no_errors	ENST00000295470	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	G	G	83347753	T	G	83347753	3	3	68	1	0	0	0	0	1	0	0	0	7303	1725	60	4	215	4	HNRPDL	4	83347753	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	7409495	83347753	107806523	59	18513											
NFKB1	4790	genome.wustl.edu	37	chr4	103514703	103514703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagtggcggtggaggaggGggcactggaagtacaggtcc	8	6	21	6	1	0	0	0	0	0	0	1	3	1	3	1	9	1	3	1	9	3	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:103514703G>A	ENST00000505458.1	+	12	1462	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	NFKB1_ENST00000226574.4_Silent_p.G396G|NFKB1_ENST00000600343.1_Silent_p.G215G|NFKB1_ENST00000394820.4_Silent_p.G395G			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	395	Gly-rich.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GTGGAGGAGGGGGCACTGGAA	0.468																																																	0													111	122	118					4																	103514703		2203	4300	6503	SO:0001819	synonymous_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"Ankyrin repeat domain containing"	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1185G>A	4.37:g.103514703G>A			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.G396	ENST00000505458.1	37	c.1188	CCDS54783.1	4																																																																																			NFKB1	-	NULL	ENSG00000109320		0.468	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-	0	55	0	G			103514703	1	tier1	-	no_errors	ENST00000226574	ensembl	human	known	74_37	silent	43.40	30	23	SNP	0.007	A	A	103514703	G	A	103514703	2	1	68	1	0	0	0	0	0	0	0	1	10414	1219	43	3		3	NFKB1	4	103514703	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	20166950	103514703	87639573	60	18514											
EGF	1950	genome.wustl.edu	37	chr4	110929354	110929354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaagaatgggggtcaacCagtggctggtgaggatggcc	9	7	16	9	0	2	2	2	1	0	1	2	3	2	3	3	6	1	1	3	6	3	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:110929354C>T	ENST00000265171.5	+	23	3783	c.3338C>T	c.(3337-3339)cCa>cTa	p.P1113L	EGF_ENST00000503392.1_Missense_Mutation_p.P1072L|EGF_ENST00000509793.1_Missense_Mutation_p.P1071L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1113					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGGGGTCAACCAGTGGCTGGT	0.418																																																	0													85	91	89					4																	110929354		2203	4300	6503	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3338C>T	4.37:g.110929354C>T	ENSP00000265171:p.Pro1113Leu		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.P1113L	ENST00000265171.5	37	c.3338	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849454	0.17034	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.89875	-2.58;-2.5;-2.35	3.94	2.2	0.27929	.	0.582939	0.15552	N	0.256341	T	0.80491	0.4633	L	0.32530	0.975	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.13407	0.004;0.009;0.004	T	0.68622	-0.5360	10	0.48119	T	0.1	.	4.964	0.14082	0.2068:0.6854:0.0:0.1078	.	1072;1071;1113	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	L	1071;1113;1072	ENSP00000424316:P1071L;ENSP00000265171:P1113L;ENSP00000421384:P1072L	ENSP00000265171:P1113L	P	+	2	0	EGF	111148803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.423000	0.21313	0.612000	0.30071	-0.143000	0.13931	CCA	EGF	-	pirsf_Pro-epidermal_GF	ENSG00000138798		0.418	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	-	0	156	0	C			110929354	1	tier1	-	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	12.72	151	22	SNP	0.000	T	T	110929354	C	T	110929354	3	4	68	1	0	0	0	0	1	0	0	0	4976	594	21	3	3428	3	EGF	4	110929354	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	7414651	110929354	80224922	61	18515											
ENPP6	133121	genome.wustl.edu	37	chr4	185038014	185038014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtctgtcttgcctcagAgtgtttcccaggggccggcc	4	10	14	13	2	3	1	1	0	2	1	4	1	4	1	4	4	1	1	4	4	0	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:185038014A>G	ENST00000296741.2	-	5	991	c.850T>C	c.(850-852)Tct>Cct	p.S284P		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	284					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTGCCTCAGAGTGTTTCCCA	0.542																																																	0													64	65	65					4																	185038014		2203	4300	6503	SO:0001583	missense	0			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.850T>C	4.37:g.185038014A>G	ENSP00000296741:p.Ser284Pro		Q4W5Q1|Q96M57	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S284P	ENST00000296741.2	37	c.850	CCDS3834.1	4	.	.	.	.	.	.	.	.	.	.	A	8.627	0.892789	0.17613	.	.	ENSG00000164303	ENST00000296741	T	0.72615	-0.67	5.63	-2.31	0.06765	Alkaline-phosphatase-like, core domain (1);	2.051990	0.01516	N	0.018120	T	0.67487	0.2898	L	0.40543	1.245	0.09310	N	1	B	0.30526	0.283	B	0.37989	0.262	T	0.58216	-0.7675	10	0.37606	T	0.19	-6.2862	11.728	0.51720	0.3599:0.536:0.0:0.1041	.	284	Q6UWR7	ENPP6_HUMAN	P	284	ENSP00000296741:S284P	ENSP00000296741:S284P	S	-	1	0	ENPP6	185275008	0.002000	0.14202	0.305000	0.25099	0.067000	0.16453	0.020000	0.13466	-0.133000	0.11537	-1.236000	0.01555	TCT	ENPP6	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000164303		0.542	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1	-	0	50	0	A	NM_153343		185038014	-1	tier1	-	no_errors	ENST00000296741	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.003	G	G	185038014	A	G	185038014	3	3	68	1	0	0	0	0	1	0	0	0	5150	304	11	4	488	4	ENPP6	4	185038014	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	74108660	185038014	6116262	62	18516											
SSBP2	23635	genome.wustl.edu	37	chr5	80742690	80742690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtttgattacaatacctgCtggactaggcatgatgggtg	10	13	12	6	0	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	5	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:80742690C>T	ENST00000320672.4	-	12	985	c.775G>A	c.(775-777)Gca>Aca	p.A259T	SSBP2_ENST00000509053.1_Missense_Mutation_p.A229T|SSBP2_ENST00000514493.1_Missense_Mutation_p.A229T|SSBP2_ENST00000505980.1_Missense_Mutation_p.A239T|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000515395.1_Missense_Mutation_p.A237T	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	259	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ACAATACCTGCTGGACTAGGC	0.353																																																	0													51	56	54					5																	80742690		2203	4300	6503	SO:0001583	missense	0			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"single-stranded DNA-binding protein 2"			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.775G>A	5.37:g.80742690C>T	ENSP00000322977:p.Ala259Thr		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.A259T	ENST00000320672.4	37	c.775	CCDS4056.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.340847	0.95783	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.72894	2.215	0.58432	D	0.999998	D;P;D;D;P;P	0.67145	0.996;0.936;0.993;0.963;0.901;0.901	D;P;D;P;P;P	0.67548	0.952;0.683;0.952;0.849;0.636;0.636	T	0.71148	-0.4677	9	0.23302	T	0.38	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	229;237;239;212;237;259	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	T	259;229;229;212;173;165;239;237	.	ENSP00000322977:A259T	A	-	1	0	SSBP2	80778446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.668000	0.74457	2.894000	0.99253	0.591000	0.81541	GCA	SSBP2	-	NULL	ENSG00000145687		0.353	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	-	0	61	0	C	NM_012446		80742690	-1	tier1	-	no_errors	ENST00000320672	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T	T	80742690	C	T	80742690	3	4	68	1	0	0	0	0	1	0	0	0	15227	797	28	3	334	3	SSBP2	5	80742690	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09		80742690	100172570	63	18517											
RASA1	5921	genome.wustl.edu	37	chr5	86645099	86645099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgattattcactttatttcCggaccaatgaaaatattcag	13	14	6	8	2	2	1	2	1	0	0	3	3	3	2	2	1	0	0	2	1	6	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:86645099C>T	ENST00000274376.6	+	8	1735	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RASA1_ENST00000456692.2_Missense_Mutation_p.R214W|RASA1_ENST00000512763.1_Missense_Mutation_p.R224W|RASA1_ENST00000506290.1_Missense_Mutation_p.R225W	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	391	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R214W(1)|p.R391W(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACTTTATTTCCGGACCAATGA	0.358																																																	2	Substitution - Missense(2)	urinary_tract(2)											87	92	91					5																	86645099		2203	4298	6501	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1171C>T	5.37:g.86645099C>T	ENSP00000274376:p.Arg391Trp		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.R391W	ENST00000274376.6	37	c.1171	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.405691	0.96051	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.78	5.78	0.91487	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93471	0.7917	L	0.52905	1.665	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.993;0.993;0.995;0.994;0.993	D	0.93452	0.6803	10	0.72032	D	0.01	.	20.0172	0.97481	0.0:1.0:0.0:0.0	.	225;224;225;214;391	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	W	391;424;214;224;225	ENSP00000274376:R391W;ENSP00000411221:R214W;ENSP00000422008:R224W;ENSP00000420905:R225W	ENSP00000274376:R391W	R	+	1	2	RASA1	86680855	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.790000	0.85794	2.723000	0.93209	0.585000	0.79938	CGG	RASA1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145715		0.358	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0	47	0	C	NM_002890		86645099	1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	T	T	86645099	C	T	86645099	3	4	68	1	0	0	0	0	1	0	0	0	13105	643	23	1	1213	1	RASA1	5	86645099	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	5902409	86645099	94270161	64	18518											
ARSK	153642	genome.wustl.edu	37	chr5	94918845	94918845	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacccttacccttcaccatcTtctggagaaaattttggatc	10	13	5	13	0	3	1	1	0	2	1	4	3	3	2	3	2	1	0	3	2	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:94918845T>G	ENST00000380009.4	+	4	847	c.642T>G	c.(640-642)tcT>tcG	p.S214S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	214					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTTCACCATCTTCTGGAGAAA	0.323																																																	0													82	83	83					5																	94918845		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"Arylsulfatase family"	25239	protein-coding gene	gene with protein product		610011	"arylsulfatase K"			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.642T>G	5.37:g.94918845T>G			A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S214	ENST00000380009.4	37	c.642	CCDS4073.1	5																																																																																			ARSK	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000164291		0.323	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	HGNC	protein_coding	OTTHUMT00000241652.2	-	0	64	0	T	NM_198150		94918845	1	tier1	-	no_errors	ENST00000380009	ensembl	human	known	74_37	silent	9.38	58	6	SNP	0.988	G	G	94918845	T	G	94918845	2	3	68	1	0	0	0	0	0	0	0	1	997	1596	56	4		4	ARSK	5	94918845	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	8273746	94918845	85996415	65	18519											
ELL2	22936	genome.wustl.edu	37	chr5	95236437	95236437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctactagaacatacaggaGattctgaacggctggtgcct	11	10	10	10	1	2	3	0	1	2	2	2	4	2	3	1	3	5	1	1	3	5	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:95236437G>A	ENST00000237853.4	-	7	1263	c.914C>T	c.(913-915)tCt>tTt	p.S305F	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	305					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ACATACAGGAGATTCTGAACG	0.398																																																	0													74	73	74					5																	95236437		2203	4300	6503	SO:0001583	missense	0			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.914C>T	5.37:g.95236437G>A	ENSP00000237853:p.Ser305Phe		B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S305F	ENST00000237853.4	37	c.914	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727987	0.48833	.	.	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.34472	1.54;1.36	5.7	5.7	0.88788	.	0.202993	0.52532	N	0.000067	T	0.60261	0.2255	M	0.66939	2.045	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.61222	-0.7106	10	0.72032	D	0.01	0.2349	17.6034	0.88031	0.0:0.0:1.0:0.0	.	305	O00472	ELL2_HUMAN	F	305;123	ENSP00000237853:S305F;ENSP00000423915:S123F	ENSP00000237853:S305F	S	-	2	0	ELL2	95262193	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.378000	0.59568	2.682000	0.91365	0.561000	0.74099	TCT	ELL2	-	NULL	ENSG00000118985		0.398	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	-	0	43	0	G	NM_012081		95236437	-1	tier1	-	no_errors	ENST00000237853	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A	A	95236437	G	A	95236437	3	1	68	1	0	0	0	0	1	0	0	0	5079	942	33	3	1032	3	ELL2	5	95236437	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	317592	95236437	85678823	66	18520											
CHD1	1105	genome.wustl.edu	37	chr5	98217809	98217809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaactgatccctttgtaaCtagacgataaatattcacct	13	14	4	10	1	2	2	2	1	0	1	3	3	3	2	2	0	2	1	2	0	6	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:98217809C>T	ENST00000284049.3	-	19	2886	c.2737G>A	c.(2737-2739)Gtt>Att	p.V913I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	913	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCCTTTGTAACTAGACGATAA	0.358																																																	0													87	80	82					5																	98217809		2203	4300	6503	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2737G>A	5.37:g.98217809C>T	ENSP00000284049:p.Val913Ile		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V913I	ENST00000284049.3	37	c.2737	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982092	0.93044	.	.	ENSG00000153922	ENST00000284049	T	0.76060	-0.99	4.97	4.97	0.65823	Helicase, C-terminal (1);	0.000000	0.30639	U	0.009192	T	0.76842	0.4044	N	0.16790	0.44	0.80722	D	1	D	0.65815	0.995	D	0.64410	0.925	T	0.81433	-0.0935	10	0.87932	D	0	.	18.5968	0.91231	0.0:1.0:0.0:0.0	.	913	O14646	CHD1_HUMAN	I	913	ENSP00000284049:V913I	ENSP00000284049:V913I	V	-	1	0	CHD1	98245709	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.818000	0.86416	2.480000	0.83734	0.585000	0.79938	GTT	CHD1	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000153922		0.358	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	49	0	C	NM_001270		98217809	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	T	T	98217809	C	T	98217809	3	4	68	1	0	0	0	0	1	0	0	0	3330	565	20	3	2463	3	CHD1	5	98217809	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	2981372	98217809	82697451	67	18521											
SLC12A2	6558	genome.wustl.edu	37	chr5	127487078	127487079	+	Frame_Shift_Ins	INS	-	-	A																															tgtatatttatgttacctacINSaaaaaaccaggtcagtagcc																										TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:127487078_127487079insA	ENST00000262461.2	+	14	2442_2443	c.2253_2254insA	c.(2254-2256)aaafs	p.K752fs	SLC12A2_ENST00000343225.4_Frame_Shift_Ins_p.K752fs	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	752					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ATGTTACCTACAAAAAACCAGG	0.347																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"Solute carriers"	10911	protein-coding gene	gene with protein product	"bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "basolateral Na-K-Cl symporter", "protein phosphatase 1, regulatory subunit 141"	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2259dupA	5.37:g.127487084_127487084dupA	ENSP00000262461:p.Lys752fs		Q8N713|Q8WWH7	Frame_Shift_Ins	INS	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P753fs	ENST00000262461.2	37	c.2253_2254	CCDS4144.1	5																																																																																			SLC12A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.347	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1		0	68	0	-	NM_001046		127487079	1	tier1		no_errors	ENST00000262461	ensembl	human	known	74_37	frame_shift_ins	16.87	69	14	INS	1.000:1.000	A	A	127487079	-	A	127487078	7	5	68	1	0	1	1	0	0	0	0	0	14428	489	17	0	2307	0	SLC12A2	5	127487078	Frame_Shift_Ins	INS	-	TCGA-L5-A4OU-01A-11D-A28B-09	29269269	127487078	53428182	68	18522											
PCDHA10	56139	genome.wustl.edu	37	chr5	140236755	140236755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccctaatcagcgtttcTgaccatgattcaggagccaa	11	11	8	11	1	3	2	2	2	1	0	3	3	3	3	3	1	3	1	3	1	2	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:140236755T>C	ENST00000307360.5	+	1	1122	c.1122T>C	c.(1120-1122)tcT>tcC	p.S374S	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.S374S|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTTTCTGACCATGATT	0.488																																																	0													155	137	143					5																	140236755		2196	4277	6473	SO:0001819	synonymous_variant	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1122T>C	5.37:g.140236755T>C			A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S374	ENST00000307360.5	37	c.1122	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.488	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	107	0	T	NM_018901		140236755	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	silent	10.23	79	9	SNP	0.000	C	C	140236755	T	C	140236755	2	2	68	1	0	0	0	0	0	0	0	1	11559	1567	55	4		4	PCDHA10	5	140236755	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	12749677	140236755	40678505	69	18523											
PCDHB6	56130	genome.wustl.edu	37	chr5	140530084	140530084	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgatccacagacccatgaTttactgctaaatgaaaaact	15	12	5	9	0	0	4	0	3	0	1	1	4	1	4	2	0	3	1	2	0	5	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:140530084T>G	ENST00000231136.1	+	1	246	c.246T>G	c.(244-246)gaT>gaG	p.D82E	PCDHB6_ENST00000543635.1_De_novo_Start_OutOfFrame	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACCCATGATTTACTGCTAA	0.527																																																	0													78	86	83					5																	140530084		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.246T>G	5.37:g.140530084T>G	ENSP00000231136:p.Asp82Glu		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D82E	ENST00000231136.1	37	c.246	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	T	4.466	0.086354	0.08583	.	.	ENSG00000113211	ENST00000231136	T	0.27720	1.65	4.97	1.22	0.21188	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.34106	0.0886	L	0.55017	1.72	0.80722	D	1	B	0.34255	0.445	B	0.43194	0.411	T	0.17684	-1.0361	9	0.56958	D	0.05	.	9.5691	0.39416	0.0:0.301:0.0:0.699	.	82	Q9Y5E3	PCDB6_HUMAN	E	82	ENSP00000231136:D82E	ENSP00000231136:D82E	D	+	3	2	PCDHB6	140510268	0.000000	0.05858	0.883000	0.34634	0.147000	0.21601	0.019000	0.13444	0.327000	0.23409	-0.375000	0.07067	GAT	PCDHB6	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin	ENSG00000113211		0.527	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2		0	43	0	T	NM_018939		140530084	1			no_errors	ENST00000231136	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.102	G	G	140530084	T	G	140530084	3	3	68	1	0	0	0	0	1	0	0	0	11585	1490	52	4	248	4	PCDHB6	5	140530084	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	293329	140530084	40385176	70	18524											
PCDHB12	56124	genome.wustl.edu	37	chr5	140589229	140589229	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggctttttatgaggtgaaGattctggagaatagcatcct	11	13	11	6	0	1	4	0	2	1	2	2	5	2	4	1	3	1	2	1	3	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:140589229G>A	ENST00000239450.2	+	1	939	c.750G>A	c.(748-750)aaG>aaA	p.K250K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAGGTGAAGATTCTGGAGA	0.498																																																	0													147	154	151					5																	140589229		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.750G>A	5.37:g.140589229G>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K250	ENST00000239450.2	37	c.750	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.498	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0	46	0	G	NM_018932		140589229	1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	silent	9.23	58	6	SNP	0.000	A	A	140589229	G	A	140589229	2	1	68	1	0	0	0	0	0	0	0	1	11576	933	33	3		3	PCDHB12	5	140589229	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	59145	140589229	40326031	71	18525											
TCERG1	10915	genome.wustl.edu	37	chr5	145838890	145838890	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgctacttcagttgcgcaGacagtatcaagtgagtacca	12	10	9	10	1	2	2	2	1	0	1	2	2	2	2	1	0	4	5	1	0	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:145838890G>A	ENST00000296702.5	+	4	920	c.882G>A	c.(880-882)caG>caA	p.Q294Q	TCERG1_ENST00000394421.2_Silent_p.Q294Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	294	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTTGCGCAGACAGTATCAA	0.463																																																	0													153	141	145					5																	145838890		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"transcription factor CA150", "co-activator of 150 kDa", "TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD", "TATA box-binding protein-associated factor 2S"	605409	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.882G>A	5.37:g.145838890G>A			Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.Q294	ENST00000296702.5	37	c.882	CCDS4282.1	5																																																																																			TCERG1	-	NULL	ENSG00000113649		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	-	0	76	0	G	NM_001040006		145838890	1	tier1	-	no_errors	ENST00000296702	ensembl	human	known	74_37	silent	25.00	63	21	SNP	1.000	A	A	145838890	G	A	145838890	2	1	68	1	0	0	0	0	0	0	0	1	15732	933	33	3		3	TCERG1	5	145838890	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	5249661	145838890	35076370	72	18526											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147040585	147040585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggactgatgctcactccGaaggtccccagccttgattt	7	11	11	12	1	1	2	1	2	0	0	3	4	3	3	4	2	2	1	4	2	1	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:147040585G>A	ENST00000265272.5	-	3	1020	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R185W|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R143W	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	185						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCACTCCGAAGGTCCCCA	0.522																																																	0													163	154	157					5																	147040585		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.553C>T	5.37:g.147040585G>A	ENSP00000265272:p.Arg185Trp		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.R185W	ENST00000265272.5	37	c.553	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692869	0.68271	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.37915	1.17;1.17;1.17	5.13	-3.84	0.04256	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.76838	2.35	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.988;0.988;0.988	T	0.71741	-0.4501	10	0.87932	D	0	.	22.3105	0.99970	0.0:0.0:0.8447:0.1553	.	143;185;185;185	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	W	185;185;143;185	ENSP00000421398:R185W;ENSP00000265272:R185W;ENSP00000328989:R143W	ENSP00000265272:R185W	R	-	1	2	JAKMIP2	147020778	0.997000	0.39634	0.041000	0.18516	0.858000	0.48976	2.416000	0.44644	-0.374000	0.07967	-0.169000	0.13324	CGG	JAKMIP2	-	NULL	ENSG00000176049		0.522	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	55	0	G	NM_014790		147040585	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.687	A	A	147040585	G	A	147040585	3	1	68	1	0	0	0	0	1	0	0	0	7968	1057	37	1	1955	1	JAKMIP2	5	147040585	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1201695	147040585	33874675	73	18527											
PDGFRB	5159	genome.wustl.edu	37	chr5	149499620	149499620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcccgaaggaccacacgtCgctcagggtggtgtagaggc	9	6	15	11	3	1	1	1	0	0	1	3	4	2	2	2	4	0	2	2	4	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:149499620C>T	ENST00000261799.4	-	19	3122	c.2653G>A	c.(2653-2655)Gac>Aac	p.D885N		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACCACACGTCGCTCAGGGTG	0.567			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													127	104	112					5																	149499620		2203	4300	6503	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2653G>A	5.37:g.149499620C>T	ENSP00000261799:p.Asp885Asn		B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D885N	ENST00000261799.4	37	c.2653	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990585	0.93106	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.98455	-4.94	4.69	4.69	0.59074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000128	D	0.99074	0.9682	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99537	1.0962	10	0.72032	D	0.01	.	17.8003	0.88585	0.0:1.0:0.0:0.0	.	885;885	A8KAM8;P09619	.;PGFRB_HUMAN	N	885;555	ENSP00000261799:D885N	ENSP00000261799:D885N	D	-	1	0	PDGFRB	149479813	1.000000	0.71417	0.869000	0.34112	0.556000	0.35491	7.651000	0.83577	2.416000	0.81992	0.655000	0.94253	GAC	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113721		0.567	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	-	0	54	0	C	NM_002609		149499620	-1	tier1	-	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T	T	149499620	C	T	149499620	3	4	68	1	0	0	0	0	1	0	0	0	11701	884	31	1	687	1	PDGFRB	5	149499620	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	2459035	149499620	31415640	74	18528											
DOCK2	1794	genome.wustl.edu	37	chr5	169508960	169508960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagaagacactcacacggaAgaaggtcaatcagttcttca	16	7	8	10	1	5	3	4	0	1	3	5	4	5	4	0	2	0	1	0	2	5	2	rs143896166	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:169508960A>G	ENST00000256935.8	+	51	5482	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.K862R|DOCK2_ENST00000520908.1_Missense_Mutation_p.K1293R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1801					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCACACGGAAGAAGGTCAAT	0.527													A|||	2	0.000399361	0.0015	0	5008	,	,		19356	0		0	False		,,,				2504	0																0								A	ARG/LYS	2,4404	4.2+/-10.8	0,2,2201	112	103	106		5402	4.8	1	5	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK2	NM_004946.2	26	0,3,6500	GG,GA,AA		0.0116,0.0454,0.0231	benign	1801/1831	169508960	3,13003	2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5402A>G	5.37:g.169508960A>G	ENSP00000256935:p.Lys1801Arg		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K1801R	ENST00000256935.8	37	c.5402	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402224	0.62288	4.54E-4	1.16E-4	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09163	3.66;3.29;3.01	4.84	4.84	0.62591	.	0.300990	0.32401	N	0.006157	T	0.07369	0.0186	N	0.14661	0.345	0.30319	N	0.787812	P;P;P	0.49090	0.651;0.919;0.651	B;B;B	0.42692	0.078;0.395;0.054	T	0.12344	-1.0551	10	0.21540	T	0.41	.	12.6806	0.56920	1.0:0.0:0.0:0.0	.	1293;357;1801	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1801;1293;862	ENSP00000256935:K1801R;ENSP00000429283:K1293R;ENSP00000438827:K862R	ENSP00000256935:K1801R	K	+	2	0	DOCK2	169441538	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.461000	0.66699	1.919000	0.55581	0.533000	0.62120	AAG	DOCK2	-	NULL	ENSG00000134516		0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	29	0	A	NM_004946		169508960	1	tier1	rs143896166	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	G	G	169508960	A	G	169508960	3	3	68	1	0	0	0	0	1	0	0	0	4701	72	3	4	5604	4	DOCK2	5	169508960	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	20009340	169508960	11406300	75	18529											
RANBP17	64901	genome.wustl.edu	37	chr5	170610191	170610191	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatatccttttaaaaaaacTtgtgaagatagatgctgtga	15	15	7	4	0	0	4	0	2	0	2	1	4	1	4	1	0	2	1	1	0	8	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:170610191T>C	ENST00000523189.1	+	17	2050	c.1886T>C	c.(1885-1887)cTt>cCt	p.L629P	RANBP17_ENST00000521759.1_Intron	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	629					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTAAAAAAACTTGTGAAGATA	0.269			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													35	39	38					5																	170610191		2197	4293	6490	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1886T>C	5.37:g.170610191T>C	ENSP00000427975:p.Leu629Pro		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L629P	ENST00000523189.1	37	c.1886	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745322	0.69418	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.74315	-0.83	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.52532	D	0.000064	D	0.88153	0.6360	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89933	0.4067	10	0.56958	D	0.05	-12.92	14.103	0.65070	0.0:0.0:0.0:1.0	.	629	Q9H2T7	RBP17_HUMAN	P	629;59	ENSP00000427975:L629P	ENSP00000427975:L629P	L	+	2	0	RANBP17	170542796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.728000	0.74769	2.194000	0.70268	0.533000	0.62120	CTT	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.269	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0	60	0	T	NM_022897		170610191	1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	C	C	170610191	T	C	170610191	3	2	68	1	0	0	0	0	1	0	0	0	13072	1609	56	4	1952	4	RANBP17	5	170610191	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	1101231	170610191	10305069	76	18530											
CNOT6	57472	genome.wustl.edu	37	chr5	179994124	179994124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtattacagtttttttctgGtagagctgaaagaacgtggc	11	14	11	5	1	1	3	0	1	1	2	1	3	1	3	0	2	3	4	0	2	5	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:179994124G>A	ENST00000393356.1	+	10	1178	c.754G>A	c.(754-756)Gta>Ata	p.V252I	CNOT6_ENST00000261951.4_Missense_Mutation_p.V252I			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	252	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTTTCTGGTAGAGCTGAA	0.363																																																	0													127	124	125					5																	179994124		2203	4300	6503	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.754G>A	5.37:g.179994124G>A	ENSP00000377024:p.Val252Ile		A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.V252I	ENST00000393356.1	37	c.754	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170732	0.57584	.	.	ENSG00000113300	ENST00000261951;ENST00000393356;ENST00000504343	T;T;T	0.80214	-1.35;-1.35;-1.35	5.36	5.36	0.76844	Endonuclease/exonuclease/phosphatase (2);	0.199295	0.44688	D	0.000427	T	0.73297	0.3569	L	0.34521	1.04	0.38400	D	0.94564	B;B	0.19583	0.037;0.002	B;B	0.29524	0.103;0.024	T	0.68416	-0.5414	9	.	.	.	-9.4813	14.9987	0.71455	0.0:0.1421:0.8579:0.0	.	156;252	D6R9H6;Q9ULM6	.;CNOT6_HUMAN	I	252;252;156	ENSP00000261951:V252I;ENSP00000377024:V252I;ENSP00000422087:V156I	.	V	+	1	0	CNOT6	179926730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.656000	0.46716	2.690000	0.91761	0.655000	0.94253	GTA	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.363	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1		0	56	0	G	NM_015455		179994124	1			no_errors	ENST00000261951	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A	A	179994124	G	A	179994124	3	1	68	1	0	0	0	0	1	0	0	0	3629	1261	44	3	780	3	CNOT6	5	179994124	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	9383933	179994124	921136	77	18531											
SYCP2L	221711	genome.wustl.edu	37	chr6	10955446	10955446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacagaagaaagagagttGccaggtaacatcatgcaccc	17	6	9	9	0	1	3	1	0	0	3	1	4	1	3	2	1	4	3	2	1	4	3	rs538404243		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:10955446G>A	ENST00000283141.6	+	24	2348	c.2052G>A	c.(2050-2052)ttG>ttA	p.L684L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	684						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAAGAGAGTTGCCAGGTAACA	0.433											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114	114	114					6																	10955446		1937	4139	6076	SO:0001819	synonymous_variant	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2052G>A	6.37:g.10955446G>A		668	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	NULL	p.L684	ENST00000283141.6	37	c.2052	CCDS43423.1	6																																																																																			SYCP2L	-	NULL	ENSG00000153157		0.433	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	-	0	34	0	G	NM_194299		10955446	1	tier1	-	no_errors	ENST00000283141	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.129	A	A	10955446	G	A	10955446	2	1	68	1	0	0	0	0	0	0	0	1	15480	1310	46	3		3	SYCP2L	6	10955446	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09		10955446	160159621	78	18532											
JARID2	3720	genome.wustl.edu	37	chr6	15496868	15496868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggccccgccgaaggccctgGcaagaaggccccggccgaga	8	2	15	16	4	0	2	0	0	0	2	0	4	0	2	7	5	0	1	7	5	3	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:15496868G>T	ENST00000341776.2	+	7	1656	c.1412G>T	c.(1411-1413)gGc>gTc	p.G471V	JARID2_ENST00000541660.1_Missense_Mutation_p.G433V|JARID2_ENST00000397311.3_Missense_Mutation_p.G299V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	471					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAAGGCCCTGGCAAGAAGGCC	0.667																																																	0													15	19	17					6																	15496868		2188	4278	6466	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1412G>T	6.37:g.15496868G>T	ENSP00000341280:p.Gly471Val		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.G471V	ENST00000341776.2	37	c.1412	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024299	0.19433	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.88896	-1.79;-1.79;-2.44	5.54	4.65	0.58169	.	0.870736	0.10415	N	0.677374	T	0.67135	0.2861	N	0.03608	-0.345	0.50813	D	0.999891	B;P;B	0.39216	0.161;0.664;0.047	B;B;B	0.36885	0.155;0.235;0.036	T	0.65940	-0.6046	10	0.30854	T	0.27	-1.5663	16.2775	0.82651	0.0:0.1328:0.8672:0.0	.	433;335;471	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	V	335;471;299;433	ENSP00000341280:G471V;ENSP00000380478:G299V;ENSP00000444623:G433V	ENSP00000341280:G471V	G	+	2	0	JARID2	15604847	1.000000	0.71417	0.087000	0.20705	0.128000	0.20619	6.273000	0.72581	1.288000	0.44600	0.655000	0.94253	GGC	JARID2	-	NULL	ENSG00000008083		0.667	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1		0	44	0	G	NM_004973		15496868	1			no_errors	ENST00000341776	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.889	T	T	15496868	G	T	15496868	3	4	68	1	0	0	0	0	1	0	0	0	7972	1203	42	3	1438	3	JARID2	6	15496868	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	4541422	15496868	155618199	79	18533											
FAM65B	9750	genome.wustl.edu	37	chr6	24843223	24843223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccatctagaaaggatctgCagccttcagattctccacca	11	11	6	13	0	4	2	1	0	3	2	6	3	5	3	4	1	2	1	4	1	2	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:24843223C>A	ENST00000259698.4	-	14	1962	c.1787G>T	c.(1786-1788)tGc>tTc	p.C596F	FAM65B_ENST00000473070.1_5'UTR|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000510784.2_Missense_Mutation_p.C580F|FAM65B_ENST00000540914.1_Missense_Mutation_p.C546F|FAM65B_ENST00000538035.1_Missense_Mutation_p.C575F|FAM65B_ENST00000378023.4_Missense_Mutation_p.C546F	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	596					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AAAGGATCTGCAGCCTTCAGA	0.463																																																	0													160	162	161					6																	24843223		1955	4144	6099	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1787G>T	6.37:g.24843223C>A	ENSP00000259698:p.Cys596Phe		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C596F	ENST00000259698.4	37	c.1787	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	C	2.292	-0.362120	0.05103	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.5	2.67	0.31697	.	0.283792	0.41605	D	0.000848	T	0.07413	0.0187	L	0.51422	1.61	0.23624	N	0.99727	B;B;B;B	0.28291	0.206;0.102;0.127;0.127	B;B;B;B	0.23419	0.046;0.02;0.029;0.029	T	0.35822	-0.9773	10	0.17832	T	0.49	-1.2718	3.4882	0.07627	0.2847:0.4793:0.139:0.097	.	580;575;546;596	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	F	596;575;546;546;580	ENSP00000259698:C596F;ENSP00000441138:C575F;ENSP00000367262:C546F;ENSP00000438425:C546F;ENSP00000441305:C580F	ENSP00000259698:C596F	C	-	2	0	FAM65B	24951202	0.998000	0.40836	0.011000	0.14972	0.754000	0.42855	2.774000	0.47694	0.246000	0.21394	0.563000	0.77884	TGC	FAM65B	-	NULL	ENSG00000111913		0.463	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0	38	0	C			24843223	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.883	A	A	24843223	C	A	24843223	3	1	68	1	0	0	0	0	1	0	0	0	5622	710	25	3	1469	3	FAM65B	6	24843223	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	9346355	24843223	146271844	80	18534											
HIST1H2AK	8330	genome.wustl.edu	37	chr6	27805943	27805943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggatctcggcggttaGgtactccaacaccgccgcca	8	8	10	15	4	1	0	0	0	1	0	4	1	3	1	5	4	2	2	5	4	3	3	rs144042626		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:27805943G>C	ENST00000330180.2	-	1	174	c.175C>G	c.(175-177)Cta>Gta	p.L59V	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGCGGTTAGGTACTCCAAC	0.667																																																	0								G	VAL/LEU	1,4405		0,1,2202	56	60	59		175	4.4	1	6	dbSNP_134	59	0,8600		0,0,4300	no	missense	HIST1H2AK	NM_003510.2	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	59/131	27805943	1,13005	2203	4300	6503	SO:0001583	missense	0			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"Histones / Replication-dependent"	4726	protein-coding gene	gene with protein product		602788	"H2A histone family, member D", "histone 1, H2ak"	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.175C>G	6.37:g.27805943G>C	ENSP00000330307:p.Leu59Val		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L59V	ENST00000330180.2	37	c.175	CCDS4632.1	6	.	.	.	.	.	.	.	.	.	.	.	21.3	4.130422	0.77549	2.27E-4	0.0	ENSG00000184348	ENST00000330180	T	0.71103	-0.54	4.41	4.41	0.53225	.	0.000000	0.25991	U	0.027006	T	0.78272	0.4257	.	.	.	0.38833	D	0.955884	.	.	.	.	.	.	T	0.82057	-0.0646	7	0.87932	D	0	.	16.8673	0.86033	0.0:0.0:1.0:0.0	.	.	.	.	V	59	ENSP00000330307:L59V	ENSP00000330307:L59V	L	-	1	2	HIST1H2AK	27913922	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.218000	0.65257	2.365000	0.80145	0.650000	0.86243	CTA	HIST1H2AK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184348		0.667	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1	-	0	119	0	G	NM_003510		27805943	-1	tier1	rs144042626	no_errors	ENST00000330180	ensembl	human	known	74_37	missense	16.30	113	22	SNP	1.000	C	C	27805943	G	C	27805943	3	2	68	1	0	0	0	0	1	0	0	0	7164	991	35	5	221	5	HIST1H2AK	6	27805943	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	2962720	27805943	143309124	81	18535											
HIST1H3J	8356	genome.wustl.edu	37	chr6	27858512	27858512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgccttggtggccagcTgcttccgcggtgccttgccg	1	10	15	15	4	0	0	0	0	0	0	1	0	1	0	5	3	5	3	5	3	0	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:27858512T>A	ENST00000359303.2	-	1	58	c.59A>T	c.(58-60)cAg>cTg	p.Q20L	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	20					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GGTGGCCAGCTGCTTCCGCGG	0.627																																																	0													29	34	32					6																	27858512		2203	4299	6502	SO:0001583	missense	0			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"Histones / Replication-dependent"	4774	protein-coding gene	gene with protein product		602817	"H3 histone family, member J", "histone 1, H3j"	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.59A>T	6.37:g.27858512T>A	ENSP00000352252:p.Gln20Leu		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.Q20L	ENST00000359303.2	37	c.59	CCDS4638.1	6	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884223	0.33255	.	.	ENSG00000197153	ENST00000359303	T	0.46819	0.86	4.06	2.9	0.33743	.	.	.	.	.	T	0.43964	0.1271	.	.	.	0.40751	D	0.982918	.	.	.	.	.	.	T	0.48151	-0.9060	6	0.72032	D	0.01	.	9.0248	0.36222	0.0:0.0909:0.0:0.9091	.	.	.	.	L	20	ENSP00000352252:Q20L	ENSP00000352252:Q20L	Q	-	2	0	HIST1H3J	27966491	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.496000	0.81526	0.911000	0.36747	-0.256000	0.11100	CAG	HIST1H3J	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000197153		0.627	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3J	HGNC	protein_coding	OTTHUMT00000043453.2		0	70	0	T	NM_003535		27858512	-1			no_errors	ENST00000359303	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	27858512	T	A	27858512	3	1	68	1	0	0	0	0	1	0	0	0	7191	1580	55	5	355	5	HIST1H3J	6	27858512	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	52569	27858512	143256555	82	18536											
MUC21	394263	genome.wustl.edu	37	chr6	30955326	30955326	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgactggaatgcacacaacTtcccatagtgcatctactgc	11	10	7	13	0	1	1	0	1	1	0	2	2	2	2	1	1	5	2	1	1	4	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:30955326T>G	ENST00000376296.3	+	2	1615	c.1374T>G	c.(1372-1374)acT>acG	p.T458T	MUC21_ENST00000486149.2_Silent_p.T4T	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	458					cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGCACACAACTTCCCATAGTG	0.597																																																	0													121	115	117					6																	30955326		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1374T>G	6.37:g.30955326T>G			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NULL	p.T458	ENST00000376296.3	37	c.1374	CCDS34388.1	6																																																																																			MUC21	-	NULL	ENSG00000204544		0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	-	0	140	0	T	NM_001010909		30955326	1	tier1	-	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	7.03	119	9	SNP	0.000	G	G	30955326	T	G	30955326	2	3	68	1	0	0	0	0	0	0	0	1	10015	1596	56	4		4	MUC21	6	30955326	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	3096814	30955326	140159741	83	18537											
HSPA1B	3304	genome.wustl.edu	37	chr6	31797421	31797421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcaagatcagcgaggCggacaagaagaaggttctgg	14	4	16	7	2	2	3	1	0	1	3	2	5	2	4	0	5	1	2	0	5	5	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:31797421C>G	ENST00000375650.3	+	1	1910	c.1694C>G	c.(1693-1695)gCg>gGg	p.A565G	HSPA1B_ENST00000545241.1_Missense_Mutation_p.A474G	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	565					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						ATCAGCGAGGCGGACAAGAAG	0.582																																																	0													91	60	70					6																	31797421		1903	3933	5836	SO:0001583	missense	0				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1694C>G	6.37:g.31797421C>G	ENSP00000364801:p.Ala565Gly		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A565G	ENST00000375650.3	37	c.1694	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	C	7.498	0.652032	0.14580	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.14022	2.54;2.54	4.38	2.43	0.29744	.	0.246457	0.21758	N	0.069569	T	0.07188	0.0182	.	.	.	0.27837	N	0.941238	.	.	.	.	.	.	T	0.11616	-1.0580	7	0.54805	T	0.06	-6.5388	6.6964	0.23201	0.1779:0.4965:0.3256:0.0	.	.	.	.	G	632;565;548;474	ENSP00000364801:A565G;ENSP00000442789:A474G	ENSP00000364801:A565G	A	+	2	0	HSPA1B	31905400	0.719000	0.27986	0.928000	0.36995	0.457000	0.32468	1.789000	0.38724	2.138000	0.66242	0.467000	0.42956	GCG	HSPA1B	-	pfam_Hsp_70_fam	ENSG00000204388		0.582	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	-	0	71	0	C			31797421	1	tier1	-	no_errors	ENST00000375650	ensembl	human	known	74_37	missense	11.11	48	6	SNP	0.635	G	G	31797421	C	G	31797421	3	3	68	1	0	0	0	0	1	0	0	0	7436	768	27	5	1696	5	HSPA1B	6	31797421	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	842095	31797421	139317646	84	18538											
MDGA1	266727	genome.wustl.edu	37	chr6	37626132	37626132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgctcgatgcgcagcgtctCgttgaacaccgatgtctcct	7	10	10	14	6	2	1	0	1	2	0	5	3	2	1	2	0	3	3	2	0	1	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:37626132C>T	ENST00000434837.3	-	3	1449	c.271G>A	c.(271-273)Gag>Aag	p.E91K	MDGA1_ENST00000505425.1_Missense_Mutation_p.E91K|MDGA1_ENST00000297153.7_Missense_Mutation_p.E91K	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	91	Ig-like 1.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.E91K(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCAGCGTCTCGTTGAACACC	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)											82	91	88					6																	37626132		2128	4224	6352	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.271G>A	6.37:g.37626132C>T	ENSP00000402584:p.Glu91Lys		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.E91K	ENST00000434837.3	37	c.271	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.972529	0.97162	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437;ENST00000508399	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000134	T	0.64649	0.2617	N	0.20986	0.625	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.64076	-0.6492	10	0.32370	T	0.25	.	17.8109	0.88616	0.0:1.0:0.0:0.0	.	91	Q8NFP4	MDGA1_HUMAN	K	91;91;91;35;35	ENSP00000402584:E91K;ENSP00000297153:E91K;ENSP00000422042:E91K;ENSP00000421510:E35K;ENSP00000427645:E35K	ENSP00000297153:E91K	E	-	1	0	MDGA1	37734110	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.090000	0.71397	2.515000	0.84797	0.655000	0.94253	GAG	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.647	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	110	0	C			37626132	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	missense	13.08	93	14	SNP	1.000	T	T	37626132	C	T	37626132	3	4	68	1	0	0	0	0	1	0	0	0	9444	893	31	1	2656	1	MDGA1	6	37626132	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	5828711	37626132	133488935	85	18539											
TUBE1	51175	genome.wustl.edu	37	chr6	112397266	112397266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcacagttgtacccaacTttccagaattcaccatgagg	11	11	7	12	0	2	2	2	1	0	1	3	2	3	2	3	1	2	3	3	1	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:112397266T>G	ENST00000368662.5	-	8	764	c.686A>C	c.(685-687)aAg>aCg	p.K229T	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	229					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TGTACCCAACTTTCCAGAATT	0.388																																																	0													151	163	159					6																	112397266		2203	4300	6503	SO:0001583	missense	0			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"Tubulins"	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.686A>C	6.37:g.112397266T>G	ENSP00000357651:p.Lys229Thr		Q5H8W8|Q8NEG3	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.K229T	ENST00000368662.5	37	c.686	CCDS5100.1	6	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971262	0.53614	.	.	ENSG00000074935	ENST00000368658;ENST00000368662;ENST00000441191	T	0.79352	-1.26	5.92	4.77	0.60923	Tubulin/FtsZ, GTPase domain (3);	0.042664	0.85682	D	0.000000	T	0.56891	0.2016	L	0.38838	1.175	0.80722	D	1	B	0.25235	0.121	B	0.29440	0.102	T	0.59075	-0.7522	10	0.49607	T	0.09	.	11.8778	0.52558	0.0:0.0678:0.0:0.9322	.	229	Q9UJT0	TBE_HUMAN	T	185;229;185	ENSP00000357651:K229T	ENSP00000357647:K185T	K	-	2	0	TUBE1	112503959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.906000	0.63293	1.068000	0.40764	0.528000	0.53228	AAG	TUBE1	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000074935		0.388	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	HGNC	protein_coding	OTTHUMT00000041867.1	-	0	33	0	T	NM_016262		112397266	-1	tier1	-	no_errors	ENST00000368662	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	G	G	112397266	T	G	112397266	3	3	68	1	0	0	0	0	1	0	0	0	16812	1609	56	4	761	4	TUBE1	6	112397266	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	74771134	112397266	58717801	86	18540											
THEMIS	387357	genome.wustl.edu	37	chr6	128151008	128151008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctagtctacttggtcCaatatgaatggtccttgtga	9	14	9	9	0	1	2	0	2	1	0	3	2	3	2	3	2	2	0	3	2	5	5	rs199738235		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:128151008C>T	ENST00000368248.2	-	3	470	c.322G>A	c.(322-324)Gga>Aga	p.G108R	THEMIS_ENST00000537166.1_Missense_Mutation_p.G73R|THEMIS_ENST00000543064.1_Missense_Mutation_p.G108R|THEMIS_ENST00000368250.1_Missense_Mutation_p.G29R	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	108	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTACTTGGTCCAATATGAATG	0.373																																																	0													71	71	71					6																	128151008		2203	4300	6503	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"thymocyte expressed molecule involved in selection"	613607	"chromosome 6 open reading frame 207", "chromosome 6 open reading frame 190", "thymocyte selection pathway associated"	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.322G>A	6.37:g.128151008C>T	ENSP00000357231:p.Gly108Arg		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.G108R	ENST00000368248.2	37	c.322	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708220	0.68615	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.20069	2.1;2.14;2.11;2.11	5.87	5.01	0.66863	.	0.056293	0.64402	N	0.000001	T	0.10208	0.0250	L	0.38175	1.15	0.46241	D	0.998941	B;P	0.43885	0.418;0.82	B;B	0.39706	0.184;0.307	T	0.02925	-1.1093	10	0.46703	T	0.11	-18.0526	15.0928	0.72207	0.0:0.9325:0.0:0.0675	.	108;108	F5H1J9;Q8N1K5	.;THMS1_HUMAN	R	29;108;108;73	ENSP00000357233:G29R;ENSP00000439594:G108R;ENSP00000357231:G108R;ENSP00000439863:G73R	ENSP00000357231:G108R	G	-	1	0	THEMIS	128192701	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.191000	0.50981	1.504000	0.48704	0.650000	0.86243	GGA	THEMIS	-	NULL	ENSG00000172673		0.373	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		-	0	40	0	C	NM_001010923		128151008	-1	tier1	rs199738235	no_errors	ENST00000543064	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	T	T	128151008	C	T	128151008	3	4	68	1	0	0	0	0	1	0	0	0	15907	603	21	3	1740	3	THEMIS	6	128151008	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	15753742	128151008	42964059	87	18541											
PHACTR2	9749	genome.wustl.edu	37	chr6	144033198	144033198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaactcagatggccccaCagcaggttcccaaacacctc	13	5	7	16	0	1	1	1	0	0	1	3	1	2	1	4	2	4	3	4	2	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:144033198C>T	ENST00000427704.2	+	2	189	c.59C>T	c.(58-60)aCa>aTa	p.T20I	PHACTR2_ENST00000397980.3_Missense_Mutation_p.T31I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.T31I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.T88I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.T20I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.T31I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	20							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GATGGCCCCACAGCAGGTTCC	0.408																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0													132	131	131					6																	144033198		1841	4089	5930	SO:0001583	missense	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"Phosphatase and actin regulators"	20956	protein-coding gene	gene with protein product		608724	"chromosome 6 open reading frame 56"	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.59C>T	6.37:g.144033198C>T	ENSP00000391763:p.Thr20Ile		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.T31I	ENST00000427704.2	37	c.92	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928171	0.18131	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000397980;ENST00000367583	T;T;T;T;T	0.30182	1.56;1.95;1.56;1.94;1.54	5.93	5.93	0.95920	.	0.474119	0.25225	N	0.032213	T	0.08802	0.0218	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.31548	0.302;0.328;0.178;0.22	B;B;B;B	0.36186	0.219;0.107;0.054;0.05	T	0.21518	-1.0243	10	0.36615	T	0.2	.	15.1085	0.72338	0.1415:0.8585:0.0:0.0	.	31;20;31;20	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	88;20;20;31;31;31;31;31	ENSP00000356556:T88I;ENSP00000391763:T20I;ENSP00000305530:T20I;ENSP00000417038:T31I;ENSP00000356554:T31I	ENSP00000305530:T20I	T	+	2	0	PHACTR2	144074891	0.137000	0.22531	0.028000	0.17463	0.883000	0.51084	2.197000	0.42696	2.814000	0.96858	0.591000	0.81541	ACA	PHACTR2	-	NULL	ENSG00000112419		0.408	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2		0	43	0	C	NM_014721		144033198	1			no_errors	ENST00000440869	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.006	T	T	144033198	C	T	144033198	3	4	68	1	0	0	0	0	1	0	0	0	11849	478	17	3	115	3	PHACTR2	6	144033198	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	15882190	144033198	27081869	88	18542											
GRM1	2911	genome.wustl.edu	37	chr6	146351241	146351241	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgacctgagtgacaaaacTttgtacaaatacttcctgag	14	11	7	9	1	0	3	0	3	0	0	2	4	1	3	2	0	3	1	2	0	5	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:146351241T>G	ENST00000282753.1	+	1	823	c.588T>G	c.(586-588)acT>acG	p.T196T	GRM1_ENST00000355289.4_Silent_p.T196T|GRM1_ENST00000492807.2_Silent_p.T196T|GRM1_ENST00000392299.2_Silent_p.T196T|GRM1_ENST00000507907.1_Silent_p.T196T|GRM1_ENST00000361719.2_Silent_p.T196T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	196					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTGACAAAACTTTGTACAAAT	0.493																																																	0													91	93	93					6																	146351241		2203	4300	6503	SO:0001819	synonymous_variant	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.588T>G	6.37:g.146351241T>G			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.T196	ENST00000282753.1	37	c.588	CCDS5209.1	6																																																																																			GRM1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000152822		0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	30	0	T	NM_000838		146351241	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	silent	16.67	45	9	SNP	1.000	G	G	146351241	T	G	146351241	2	3	68	1	0	0	0	0	0	0	0	1	6823	1596	56	4		4	GRM1	6	146351241	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	2318043	146351241	24763826	89	18543											
MTHFD1L	25902	genome.wustl.edu	37	chr6	151265637	151265637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagttcaaccttcacttgActggagacatccacgccatc	10	11	6	14	1	3	2	2	1	1	1	5	3	4	2	3	1	1	1	3	1	2	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:151265637A>G	ENST00000367321.3	+	14	1730	c.1456A>G	c.(1456-1458)Act>Gct	p.T486A		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	486	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTTCACTTGACTGGAGACAT	0.453																																																	0													47	43	45					6																	151265637		2203	4300	6503	SO:0001583	missense	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1456A>G	6.37:g.151265637A>G	ENSP00000356290:p.Thr486Ala		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.T486A	ENST00000367321.3	37	c.1456	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250429	0.80024	.	.	ENSG00000120254	ENST00000367321	T	0.35973	1.28	5.51	4.34	0.51931	.	0.048603	0.85682	D	0.000000	T	0.68924	0.3054	H	0.99261	4.49	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.986;0.999	T	0.80982	-0.1139	10	0.87932	D	0	.	11.9303	0.52843	0.8697:0.0:0.0:0.1303	.	487;241;486	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	A	486	ENSP00000356290:T486A	ENSP00000356290:T486A	T	+	1	0	MTHFD1L	151307330	1.000000	0.71417	0.892000	0.35008	0.994000	0.84299	9.227000	0.95236	0.910000	0.36722	0.533000	0.62120	ACT	MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.453	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1		0	39	0	A	NM_015440		151265637	1			no_errors	ENST00000367321	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G	G	151265637	A	G	151265637	3	3	68	1	0	0	0	0	1	0	0	0	9966	275	10	4	1510	4	MTHFD1L	6	151265637	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	4914396	151265637	19849430	90	18544											
ESR1	2099	genome.wustl.edu	37	chr6	152129213	152129213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgccgtgtacaactaccccGagggcgccgcctacgagttc	7	6	11	17	6	0	0	0	0	0	0	1	2	0	0	6	1	4	2	6	1	4	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:152129213G>A	ENST00000206249.3	+	1	528	c.166G>A	c.(166-168)Gag>Aag	p.E56K	ESR1_ENST00000443427.1_Missense_Mutation_p.E56K|ESR1_ENST00000338799.5_Missense_Mutation_p.E56K|ESR1_ENST00000427531.2_5'Flank|ESR1_ENST00000406599.1_Missense_Mutation_p.E56K|ESR1_ENST00000456483.2_Missense_Mutation_p.E56K|ESR1_ENST00000440973.1_Missense_Mutation_p.E56K	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	56	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CAACTACCCCGAGGGCGCCGC	0.711																																																	0													16	20	19					6																	152129213		2200	4295	6495	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"Nuclear hormone receptors"	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.166G>A	6.37:g.152129213G>A	ENSP00000206249:p.Glu56Lys		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E56K	ENST00000206249.3	37	c.166	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698986	0.88830	.	.	ENSG00000091831	ENST00000404742;ENST00000440973;ENST00000338799;ENST00000456483;ENST00000446550;ENST00000443427;ENST00000206249;ENST00000406599	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	4.82	3.95	0.45737	.	0.362660	0.30365	N	0.009796	T	0.53302	0.1788	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.997	D;P;P;P	0.72982	0.979;0.882;0.813;0.882	T	0.61382	-0.7074	10	0.87932	D	0	.	12.9854	0.58588	0.0793:0.0:0.9207:0.0	.	56;56;56;56	Q9H2M1;A8KAF4;G4XH65;P03372	.;.;.;ESR1_HUMAN	K	56	ENSP00000385373:E56K;ENSP00000405330:E56K;ENSP00000342630:E56K;ENSP00000415934:E56K;ENSP00000411105:E56K;ENSP00000387500:E56K;ENSP00000206249:E56K;ENSP00000384064:E56K	ENSP00000206249:E56K	E	+	1	0	ESR1	152170906	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.261000	0.78400	1.041000	0.40125	0.563000	0.77884	GAG	ESR1	-	pfam_Oestr_rcpt,prints_Oestr_rcpt	ENSG00000091831		0.711	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	-	0	37	0	G			152129213	1	tier1	-	no_errors	ENST00000206249	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A	A	152129213	G	A	152129213	3	1	68	1	0	0	0	0	1	0	0	0	5272	1059	37	1	168	1	ESR1	6	152129213	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	863576	152129213	18985854	91	18545											
ABCA13	154664	genome.wustl.edu	37	chr7	48431574	48431574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccatcatcatcaatggcaAgaacctacagacagacctgt	16	7	6	12	0	3	3	3	0	0	3	3	3	3	3	3	1	3	1	3	1	5	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:48431574A>G	ENST00000435803.1	+	38	11735	c.11711A>G	c.(11710-11712)aAg>aGg	p.K3904R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3904	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCAATGGCAAGAACCTACAG	0.527																																																	0													88	89	89					7																	48431574		1999	4166	6165	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11711A>G	7.37:g.48431574A>G	ENSP00000411096:p.Lys3904Arg		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K3904R	ENST00000435803.1	37	c.11711	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330837	0.24167	.	.	ENSG00000179869	ENST00000435803	D	0.94000	-3.33	5.32	2.95	0.34219	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.339452	0.20817	N	0.085123	D	0.86289	0.5897	N	0.21324	0.655	0.80722	D	1	B;B	0.20368	0.027;0.044	B;B	0.18561	0.019;0.022	T	0.77300	-0.2639	10	0.36615	T	0.2	.	8.7741	0.34751	0.8912:0.0:0.1088:0.0	.	1606;3904	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	3904	ENSP00000411096:K3904R	ENSP00000411096:K3904R	K	+	2	0	ABCA13	48402120	0.928000	0.31464	0.908000	0.35775	0.519000	0.34347	-0.046000	0.11983	0.325000	0.23359	0.383000	0.25322	AAG	ABCA13	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	77	0	A	NM_152701		48431574	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.997	G	G	48431574	A	G	48431574	3	3	68	1	0	0	0	0	1	0	0	0	31	72	3	4	11690	4	ABCA13	7	48431574	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09		48431574	110707089	92	18546											
ZNF713	349075	genome.wustl.edu	37	chr7	56007556	56007556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaactcatacaggagagaaaCcctataaatgtaatgaatgc	18	8	8	7	0	1	2	1	1	0	1	1	5	1	3	1	1	4	1	1	1	8	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:56007556C>T	ENST00000429591.2	+	4	1188	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGAGAGAAACCCTATAAATG	0.408																																																	0													51	53	53					7																	56007556		2203	4300	6503	SO:0001583	missense	0			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"Zinc fingers, C2H2-type", "-"	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1150C>T	7.37:g.56007556C>T	ENSP00000416662:p.Pro384Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P384S	ENST00000429591.2	37	c.1150	CCDS34639.1	7	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484016	0.63962	.	.	ENSG00000178665	ENST00000429591	T	0.16743	2.32	3.54	2.66	0.31614	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001465	T	0.39682	0.1087	M	0.80332	2.49	0.40860	D	0.983822	D	0.89917	1.0	D	0.83275	0.996	T	0.35773	-0.9775	10	0.87932	D	0	.	9.1086	0.36714	0.0:0.8878:0.0:0.1122	.	384	Q8N859	ZN713_HUMAN	S	384	ENSP00000416662:P384S	ENSP00000416662:P384S	P	+	1	0	ZNF713	55975050	0.980000	0.34600	0.933000	0.37362	0.982000	0.71751	4.310000	0.59141	1.062000	0.40625	0.467000	0.42956	CCC	ZNF713	-	pfscan_Znf_C2H2	ENSG00000178665		0.408	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF713	HGNC	protein_coding	OTTHUMT00000343297.1	-	0	40	0	C	NM_182633		56007556	1	tier1	-	no_errors	ENST00000429591	ensembl	human	known	74_37	missense	34.69	32	17	SNP	0.997	T	T	56007556	C	T	56007556	3	4	68	1	0	0	0	0	1	0	0	0	18165	507	18	3	1164	3	ZNF713	7	56007556	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	7575982	56007556	103131107	93	18547											
PCLO	27445	genome.wustl.edu	37	chr7	82538208	82538208	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgctcttgatgttgActgagtggtctagagtggac	7	15	12	7	0	2	4	0	3	2	1	2	5	2	5	0	2	2	2	0	2	2	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:82538208A>G	ENST00000333891.9	-	8	13759	c.13422T>C	c.(13420-13422)agT>agC	p.S4474S	PCLO_ENST00000423517.2_Silent_p.S4474S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGATGTTGACTGAGTGGTC	0.393																																																	0													120	112	114					7																	82538208		1871	4114	5985	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13422T>C	7.37:g.82538208A>G				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4474	ENST00000333891.9	37	c.13422	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	37	0	A	NM_014510		82538208	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	13.64	38	6	SNP	1.000	G	G	82538208	A	G	82538208	2	3	68	1	0	0	0	0	0	0	0	1	11622	272	10	4		4	PCLO	7	82538208	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	26530652	82538208	76600455	94	18548											
PCLO	27445	genome.wustl.edu	37	chr7	82595624	82595624	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgtttttacttcttgttcTtgctttttcactaattttac	5	24	3	9	1	3	0	1	0	2	0	4	0	4	0	1	0	3	3	1	0	3	12			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:82595624T>C	ENST00000333891.9	-	4	3817	c.3480A>G	c.(3478-3480)caA>caG	p.Q1160Q	PCLO_ENST00000423517.2_Silent_p.Q1160Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTGTTCTTGCTTTTTCA	0.393																																																	0													120	111	114					7																	82595624		1860	4110	5970	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3480A>G	7.37:g.82595624T>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q1160	ENST00000333891.9	37	c.3480	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	114	0	T	NM_014510		82595624	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	8.66	116	11	SNP	0.818	C	C	82595624	T	C	82595624	2	2	68	1	0	0	0	0	0	0	0	1	11622	1606	56	4		4	PCLO	7	82595624	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	57416	82595624	76543039	95	18549											
PCLO	27445	genome.wustl.edu	37	chr7	82791691	82791691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgactccgcagcggccGgggggacgcttcccttgggc	5	5	17	14	5	0	0	0	0	0	0	2	2	2	1	3	6	1	2	3	6	1	2	rs370346756	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:82791691G>A	ENST00000333891.9	-	1	555	c.218C>T	c.(217-219)cCg>cTg	p.P73L	PCLO_ENST00000423517.2_Missense_Mutation_p.P73L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q186E(1)|p.P73R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGCAGCGGCCGGGGGGACGCT	0.607																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											17	21	20					7																	82791691		2108	4223	6331	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.218C>T	7.37:g.82791691G>A	ENSP00000334319:p.Pro73Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P73L	ENST00000333891.9	37	c.218	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922227	0.52653	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.22	4.52	4.52	0.55395	.	.	.	.	.	T	0.11324	0.0276	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.06481	-1.0824	9	0.87932	D	0	.	8.6598	0.34086	0.1404:0.0:0.8596:0.0	.	73;73	Q9Y6V0-5;Q9Y6V0-6	.;.	L	73	ENSP00000334319:P73L;ENSP00000388393:P73L	ENSP00000334319:P73L	P	-	2	0	PCLO	82629627	0.997000	0.39634	0.993000	0.49108	0.987000	0.75469	4.191000	0.58372	2.325000	0.78763	0.555000	0.69702	CCG	PCLO	-	NULL	ENSG00000186472		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	108	0	G	NM_014510		82791691	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	26.15	96	34	SNP	0.998	A	A	82791691	G	A	82791691	3	1	68	1	0	0	0	0	1	0	0	0	11622	1116	39	1	15327	1	PCLO	7	82791691	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	196067	82791691	76346972	96	18550											
NPTX2	4885	genome.wustl.edu	37	chr7	98254301	98254301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcacaaactacctataCggcaagatcaagaagacgct	15	6	7	13	3	1	3	1	0	0	3	2	3	2	3	2	1	3	3	2	1	7	3	rs573416055		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:98254301C>T	ENST00000265634.3	+	3	876	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													C|||	1	0.000199681	0	0	5008	,	,		19245	0		0.001	False		,,,				2504	0																0													222	177	192					7																	98254301		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>T	7.37:g.98254301C>T			A4D267|Q86XV7|Q96G70	Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.Y237	ENST00000265634.3	37	c.711	CCDS5657.1	7																																																																																			NPTX2	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000106236		0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	HGNC	protein_coding	OTTHUMT00000334982.1	-	0	100	0	C	NM_002523		98254301	1	tier1	-	no_errors	ENST00000265634	ensembl	human	known	74_37	silent	11.06	185	23	SNP	0.535	T	T	98254301	C	T	98254301	2	4	68	1	0	0	0	0	0	0	0	1	10642	547	19	1		1	NPTX2	7	98254301	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	15462610	98254301	60884362	97	18551											
PILRB	29990	genome.wustl.edu	37	chr7	99957139	99957139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgtgcctcctcctcCtgtggtggaggagaaggaaa	8	9	14	10	0	0	1	0	0	0	1	3	5	3	3	4	4	2	1	4	4	2	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:99957139C>T	ENST00000452089.1	+	8	1693	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	PILRB_ENST00000610247.1_Silent_p.L212L|PILRB_ENST00000444073.1_Silent_p.L212L|PILRB_ENST00000609309.1_Silent_p.L212L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	212				Missing (in Ref. 2; CAC19193). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCTCCTCCTGTGGTGGAG	0.552																																																	0													76	82	80					7																	99957139		2202	4300	6502	SO:0001819	synonymous_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"Immunoglobulin superfamily / V-set domain containing"	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.634C>T	7.37:g.99957139C>T			Q69YF9|Q9HBS0	Missense_Mutation	SNP	NULL	p.P264L	ENST00000452089.1	37	c.791	CCDS43622.1	7	.	.	.	.	.	.	.	.	.	.	C	2.174	-0.389297	0.04932	.	.	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	.	.	.	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	142	Q9UKJ0-2	.	L	142;264	.	.	P	+	2	0	PILRB	99795075	0.143000	0.22626	0.090000	0.20809	0.010000	0.07245	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCT	PILRB	-	NULL	ENSG00000121716		0.552	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2		0	60	0	C	NM_178238		99957139	1			no_errors	ENST00000448382	ensembl	human	known	74_37	missense	7.69	204	17	SNP	0.114	T	T	99957139	C	T	99957139	2	4	68	1	0	0	0	0	0	0	0	1	11965	681	24	3		3	PILRB	7	99957139	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	1702838	99957139	59181524	98	18552											
TRIM56	81844	genome.wustl.edu	37	chr7	100730995	100730995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccaggcctgtgccgacggGcaccgctgcacccgccagac	6	4	13	18	4	0	1	0	0	0	1	0	2	0	1	6	2	3	3	6	2	0	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:100730995G>A	ENST00000306085.6	+	3	699	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	134					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGCCGACGGGCACCGCTGCA	0.736																																					Ovarian(89;1092 1379 22756 38989 39611)												0													10	13	12					7																	100730995		2003	4110	6113	SO:0001819	synonymous_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.402G>A	7.37:g.100730995G>A			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.G134	ENST00000306085.6	37	c.402	CCDS43625.1	7																																																																																			TRIM56	-	NULL	ENSG00000169871		0.736	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1		0	28	0	G	NM_030961		100730995	1			no_errors	ENST00000306085	ensembl	human	known	74_37	silent	11.24	79	10	SNP	0.997	A	A	100730995	G	A	100730995	2	1	68	1	0	0	0	0	0	0	0	1	16578	1190	42	3		3	TRIM56	7	100730995	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	773856	100730995	58407668	99	18553											
CSMD1	64478	genome.wustl.edu	37	chr8	2832087	2832087	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcacgacggcgccataggTaaacagctctccagtgagga	11	6	13	11	3	1	1	0	1	1	0	2	3	1	2	2	3	3	3	2	3	3	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:2832087T>G	ENST00000520002.1	-	57	9184	c.8629A>C	c.(8629-8631)Acc>Ccc	p.T2877P	CSMD1_ENST00000537824.1_Missense_Mutation_p.T2876P|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2819P|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2819P|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2877P|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2818P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2877	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGCCATAGGTAAACAGCTCT	0.547																																																	0													43	46	45					8																	2832087		1994	4155	6149	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8629A>C	8.37:g.2832087T>G	ENSP00000430733:p.Thr2877Pro		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2877P	ENST00000520002.1	37	c.8629		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.063713|4.063713	0.76187|0.76187	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08|.	5.66|5.66	4.49|4.49	0.54785|0.54785	Complement control module (2);Sushi/SCR/CCP (3);|.	0.064277|.	0.64402|.	D|.	0.000010|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.85130|.	0.987;0.994;0.997|.	T|T	0.69285|0.69285	-0.5185|-0.5185	10|5	0.31617|.	T|.	0.26|.	.|.	12.1259|12.1259	0.53917|0.53917	0.1285:0.0:0.0:0.8715|0.1285:0.0:0.0:0.8715	.|.	2877;2877;2818|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	P|S	2819;2877;2738;2876;2818|2293	ENSP00000383047:T2819P;ENSP00000430733:T2877P;ENSP00000441462:T2876P;ENSP00000446243:T2818P|.	ENSP00000320445:T2738P|.	T|Y	-|-	1|2	0|0	CSMD1|CSMD1	2819494|2819494	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.004000|0.004000	0.04260|0.04260	3.963000|3.963000	0.56773|0.56773	0.946000|0.946000	0.37632|0.37632	0.533000|0.533000	0.62120|0.62120	ACC|TAC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.547	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	50	0	T	NM_033225		2832087	-1			no_errors	ENST00000520002	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.997	G	G	2832087	T	G	2832087	3	3	68	1	0	0	0	0	1	0	0	0	3953	1638	57	4	2128	4	CSMD1	8	2832087	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09		2832087	143531935	100	18554											
ADAM18	8749	genome.wustl.edu	37	chr8	39496040	39496040	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctggcactgtatgcaataAaagctatgatgcaggtattg	12	12	10	7	0	0	1	0	1	0	0	1	1	1	1	1	2	3	6	1	2	6	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:39496040A>T	ENST00000265707.5	+	10	929	c.884A>T	c.(883-885)aAa>aTa	p.K295I	ADAM18_ENST00000379866.1_Missense_Mutation_p.K271I|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTATGCAATAAAAGCTATGAT	0.269																																																	0													108	106	107					8																	39496040		2203	4295	6498	SO:0001583	missense	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.884A>T	8.37:g.39496040A>T	ENSP00000265707:p.Lys295Ile		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.K295I	ENST00000265707.5	37	c.884	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	A	6.162	0.398041	0.11696	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.09538	2.97;2.97	5.51	4.36	0.52297	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.939591	0.08870	N	0.881728	T	0.12603	0.0306	L	0.45352	1.415	0.25432	N	0.988178	B;B	0.17465	0.018;0.022	B;B	0.27076	0.046;0.076	T	0.29427	-1.0012	10	0.49607	T	0.09	.	8.1243	0.30988	0.9113:0.0:0.0887:0.0	.	271;295	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	295;271;227	ENSP00000265707:K295I;ENSP00000369195:K271I	ENSP00000265707:K295I	K	+	2	0	ADAM18	39615197	0.135000	0.22499	0.001000	0.08648	0.003000	0.03518	1.121000	0.31283	1.118000	0.41863	0.529000	0.55759	AAA	ADAM18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168619		0.269	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0	85	0	A	NM_014237		39496040	1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.004	T	T	39496040	A	T	39496040	3	4	68	1	0	0	0	0	1	0	0	0	239	14	1	5	922	5	ADAM18	8	39496040	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	36663953	39496040	106867982	101	18555											
ADAM2	2515	genome.wustl.edu	37	chr8	39645738	39645738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaagctccaatgaagaCagaataattgtaatattaaa	20	10	5	6	0	0	3	0	1	0	2	2	3	2	3	2	0	1	2	2	0	9	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:39645738C>T	ENST00000265708.4	-	9	778	c.675G>A	c.(673-675)ctG>ctA	p.L225L	ADAM2_ENST00000521880.1_Silent_p.L225L|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Silent_p.L206L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	225	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCAATGAAGACAGAATAATTG	0.264																																																	0													58	62	60					8																	39645738		2201	4286	6487	SO:0001819	synonymous_variant	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.675G>A	8.37:g.39645738C>T			P78326|Q9UQQ8	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L225	ENST00000265708.4	37	c.675	CCDS34884.1	8																																																																																			ADAM2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000104755		0.264	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0	35	0	C	NM_001464		39645738	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	silent	16.22	31	6	SNP	0.428	T	T	39645738	C	T	39645738	2	4	68	1	0	0	0	0	0	0	0	1	241	465	17	3		3	ADAM2	8	39645738	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	149698	39645738	106718284	102	18556											
PI15	51050	genome.wustl.edu	37	chr8	75761430	75761430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagttatgggggatcttGtactgacaatctgtgttttc	8	16	10	7	0	2	1	0	1	2	0	4	2	3	2	1	2	1	3	1	2	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:75761430G>A	ENST00000260113.2	+	6	898	c.719G>A	c.(718-720)tGt>tAt	p.C240Y	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C240Y	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	240						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGGGGATCTTGTACTGACAAT	0.393																																																	0													202	176	185					8																	75761430		2203	4300	6503	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"protease inhibitor 15"			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.719G>A	8.37:g.75761430G>A	ENSP00000260113:p.Cys240Tyr		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.C240Y	ENST00000260113.2	37	c.719	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419744	0.83559	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.13538	2.58;2.58	5.15	5.15	0.70609	.	0.096535	0.85682	D	0.000000	T	0.54631	0.1870	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70695	-0.4801	10	0.87932	D	0	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	240	O43692	PI15_HUMAN	Y	240	ENSP00000260113:C240Y;ENSP00000428567:C240Y	ENSP00000260113:C240Y	C	+	2	0	PI15	75923985	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	9.208000	0.95075	2.833000	0.97629	0.585000	0.79938	TGT	PI15	-	NULL	ENSG00000137558		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1		0	56	0	G	NM_015886		75761430	1			no_errors	ENST00000260113	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	A	A	75761430	G	A	75761430	3	1	68	1	0	0	0	0	1	0	0	0	11907	1377	48	3	737	3	PI15	8	75761430	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	36115692	75761430	70602592	103	18557											
ZC3H3	23144	genome.wustl.edu	37	chr8	144621396	144621396	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgggcactaaaggctctGccactgtggtaagtgggtgg	8	9	16	8	1	1	0	0	0	1	0	1	0	1	0	1	5	2	3	1	5	4	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:144621396G>T	ENST00000262577.5	-	2	172	c.141C>A	c.(139-141)ggC>ggA	p.G47G	RP11-661A12.5_ENST00000530600.1_RNA|7SK_ENST00000517300.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	47					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TAAAGGCTCTGCCACTGTGGT	0.612																																																	0													49	47	47					8																	144621396		2203	4292	6495	SO:0001819	synonymous_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.141C>A	8.37:g.144621396G>T			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G47	ENST00000262577.5	37	c.141	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.612	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2		0	85	0	G	NM_015117		144621396	-1			no_errors	ENST00000262577	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.750	T	T	144621396	G	T	144621396	2	4	68	1	0	0	0	0	0	0	0	1	17617	1306	46	3		3	ZC3H3	8	144621396	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	68859966	144621396	1742626	104	18558											
ZNF707	286075	genome.wustl.edu	37	chr8	144776365	144776365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccgagcacaggccctacTcgtgtggcgactgtgggaaa	10	6	13	12	3	0	0	0	0	0	0	1	3	0	1	2	3	2	1	2	3	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:144776365T>C	ENST00000532205.1	+	8	1680	c.781T>C	c.(781-783)Tcg>Ccg	p.S261P	ZNF707_ENST00000358656.4_Missense_Mutation_p.S261P|ZNF707_ENST00000532158.1_Missense_Mutation_p.S261P|ZNF707_ENST00000418203.2_Missense_Mutation_p.S261P|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Missense_Mutation_p.S261P			Q96C28	ZN707_HUMAN	zinc finger protein 707	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGCCCTACTCGTGTGGCGA	0.657																																																	0													19	23	22					8																	144776365		2178	4272	6450	SO:0001583	missense	0			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"Zinc fingers, C2H2-type", "-"	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.781T>C	8.37:g.144776365T>C	ENSP00000436212:p.Ser261Pro		A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S261P	ENST00000532205.1	37	c.781	CCDS47932.1	8	.	.	.	.	.	.	.	.	.	.	T	4.120	0.020408	0.08006	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	2.99	-5.98	0.02220	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.13003	0.285	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41288	-0.9517	8	.	.	.	0.1864	7.8014	0.29176	0.0:0.4354:0.3933:0.1713	.	186;261	B4DV46;Q96C28	.;ZN707_HUMAN	P	261	ENSP00000409029:S261P;ENSP00000351482:S261P;ENSP00000436250:S261P;ENSP00000436212:S261P;ENSP00000413215:S261P	.	S	+	1	0	ZNF707	144848353	0.000000	0.05858	0.001000	0.08648	0.283000	0.27025	-2.961000	0.00672	-1.012000	0.03387	-0.400000	0.06385	TCG	ZNF707	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181135		0.657	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	-	0	51	0	T	NM_173831		144776365	1	tier1	-	no_errors	ENST00000358656	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.001	C	C	144776365	T	C	144776365	3	2	68	1	0	0	0	0	1	0	0	0	18159	1551	54	4	795	4	ZNF707	8	144776365	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	154969	144776365	1587657	105	18559											
PLEC	5339	genome.wustl.edu	37	chr8	144991310	144991310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaactcggtgatggagaGcgtgccggcgcggtactggt	6	7	19	9	6	0	2	0	1	0	1	1	4	0	2	1	6	4	1	1	6	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:144991310G>A	ENST00000322810.4	-	32	13259	c.13090C>T	c.(13090-13092)Ctc>Ttc	p.L4364F	PLEC_ENST00000527096.1_Missense_Mutation_p.L4250F|PLEC_ENST00000354958.2_Missense_Mutation_p.L4205F|PLEC_ENST00000436759.2_Missense_Mutation_p.L4254F|PLEC_ENST00000345136.3_Missense_Mutation_p.L4227F|PLEC_ENST00000354589.3_Missense_Mutation_p.L4227F|PLEC_ENST00000357649.2_Missense_Mutation_p.L4231F|PLEC_ENST00000356346.3_Missense_Mutation_p.L4213F|PLEC_ENST00000398774.2_Missense_Mutation_p.L4195F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4364	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGATGGAGAGCGTGCCGGCG	0.657																																																	0													48	63	58					8																	144991310		2143	4231	6374	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13090C>T	8.37:g.144991310G>A	ENSP00000323856:p.Leu4364Phe		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L4364F	ENST00000322810.4	37	c.13090	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561660	0.27915	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.24	5.24	0.73138	.	0.000000	0.52532	U	0.000067	T	0.78444	0.4284	M	0.73217	2.22	0.54753	D	0.999987	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999	T	0.79548	-0.1758	10	0.72032	D	0.01	.	9.301	0.37845	0.1581:0.0:0.8419:0.0	.	4254;4213;4205;4364;4195;4227;4231;4227	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	F	4227;4231;4227;4195;4364;4205;4213;4254;4250	ENSP00000344848:L4227F;ENSP00000350277:L4231F;ENSP00000346602:L4227F;ENSP00000381756:L4195F;ENSP00000323856:L4364F;ENSP00000347044:L4205F;ENSP00000348702:L4213F;ENSP00000388180:L4254F;ENSP00000434583:L4250F	ENSP00000323856:L4364F	L	-	1	0	PLEC	145063298	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	4.748000	0.62148	2.726000	0.93360	0.549000	0.68633	CTC	PLEC	-	NULL	ENSG00000178209		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	31	0	G	NM_000445		144991310	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.997	A	A	144991310	G	A	144991310	3	1	68	1	0	0	0	0	1	0	0	0	12091	971	34	3	968	3	PLEC	8	144991310	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	214945	144991310	1372712	106	18560											
C9orf46	55848	genome.wustl.edu	37	chr9	5431901	5431901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattttaaaacatacctgaAgtcgagcattcataagcatg	15	13	6	7	1	1	1	1	1	0	0	2	2	1	1	1	0	4	2	1	0	6	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:5431901A>G	ENST00000223864.2	-	3	298	c.77T>C	c.(76-78)cTt>cCt	p.L26P	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	26					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											ACATACCTGAAGTCGAGCATT	0.313																																																	0													47	47	47					9																	5431901		2201	4295	6496	SO:0001583	missense	0			AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"uncharacterized hematopoietic stem/progenitor cells protein MDS030", "plasminogen receptor with a C-terminal lysine"		"chromosome 9 open reading frame 46"	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.77T>C	9.37:g.5431901A>G	ENSP00000223864:p.Leu26Pro		B2R6W0|Q9NZ44	Missense_Mutation	SNP	pfam_DUF2368	p.L26P	ENST00000223864.2	37	c.77	CCDS6463.1	9	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747230	0.69418	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.62	5.62	0.85841	.	0.073713	0.56097	D	0.000038	T	0.79684	0.4488	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.82729	-0.0313	9	0.72032	D	0.01	.	13.3294	0.60477	1.0:0.0:0.0:0.0	.	26	Q9HBL7	CI046_HUMAN	P	26	.	ENSP00000223864:L26P	L	-	2	0	C9orf46	5421901	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	5.162000	0.64942	2.127000	0.65507	0.528000	0.53228	CTT	PLGRKT	-	pfam_DUF2368	ENSG00000107020		0.313	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGRKT	HGNC	protein_coding	OTTHUMT00000051626.1		0	14	0	A	NM_018465		5431901	-1			no_errors	ENST00000223864	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G	G	5431901	A	G	5431901	3	3	68	1	0	0	0	0	1	0	0	0	2491	72	3	4	382	4	C9orf46	9	5431901	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09		5431901	135781530	107	18561											
KIAA1797	54914	genome.wustl.edu	37	chr9	20770221	20770221	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccttttagagcacagtgTtgaacttctgaaggaggtaa	12	12	10	7	0	2	3	1	2	1	1	2	4	2	4	1	2	2	3	1	2	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:20770221T>G	ENST00000380249.1	+	10	1254	c.890T>G	c.(889-891)gTt>gGt	p.V297G	FOCAD_ENST00000338382.6_Missense_Mutation_p.V297G	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	297						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGCACAGTGTTGAACTTCTG	0.368																																																	0													100	101	100					9																	20770221		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.890T>G	9.37:g.20770221T>G	ENSP00000369599:p.Val297Gly		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.V297G	ENST00000380249.1	37	c.890	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396175	0.25205	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07688	3.17;3.17	5.46	2.94	0.34122	.	0.508548	0.21851	N	0.068172	T	0.04724	0.0128	N	0.24115	0.695	0.46609	D	0.999126	B	0.29716	0.255	B	0.22152	0.038	T	0.40590	-0.9555	10	0.72032	D	0.01	-1.0974	3.1103	0.06356	0.1415:0.0753:0.148:0.6351	.	297	Q5VW36	K1797_HUMAN	G	297	ENSP00000369599:V297G;ENSP00000344307:V297G	ENSP00000344307:V297G	V	+	2	0	KIAA1797	20760221	0.839000	0.29477	0.942000	0.38095	0.840000	0.47671	0.871000	0.28023	0.878000	0.35920	0.459000	0.35465	GTT	FOCAD	-	NULL	ENSG00000188352		0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	-	0	63	0	T	NM_017794		20770221	1	tier1	-	no_errors	ENST00000338382	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.928	G	G	20770221	T	G	20770221	3	3	68	1	0	0	0	0	1	0	0	0	8285	1725	60	4	916	4	KIAA1797	9	20770221	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	15338320	20770221	120443210	108	18562											
SHB	6461	genome.wustl.edu	37	chr9	37919868	37919868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggacaagtgctcagcccCtttgatgggtagctttctgg	7	11	14	9	0	2	1	1	1	1	0	2	3	2	2	2	3	3	3	2	3	2	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:37919868C>T	ENST00000377707.3	-	6	2045	c.1480G>A	c.(1480-1482)Ggg>Agg	p.G494R	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	494	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGCTCAGCCCCTTTGATGGGT	0.562																																																	0													132	143	139					9																	37919868		2052	4194	6246	SO:0001583	missense	0				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"SH2 domain containing"	10838	protein-coding gene	gene with protein product		600314	"SHB adaptor protein (a Src homology 2 protein)", "SHB (Src homology 2 domain containing) adaptor protein B"			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1480G>A	9.37:g.37919868C>T	ENSP00000366936:p.Gly494Arg		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.G494R	ENST00000377707.3	37	c.1480	CCDS43806.1	9	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012425	0.93346	.	.	ENSG00000107338	ENST00000377707	T	0.71103	-0.54	5.51	5.51	0.81932	SH2 motif (2);	0.000000	0.64402	D	0.000017	D	0.84000	0.5376	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85360	0.1107	10	0.66056	D	0.02	-19.7672	16.9235	0.86169	0.0:1.0:0.0:0.0	.	494	Q15464	SHB_HUMAN	R	494	ENSP00000366936:G494R	ENSP00000366936:G494R	G	-	1	0	SHB	37909868	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.469000	0.80959	2.573000	0.86826	0.655000	0.94253	GGG	SHB	-	pfscan_SH2	ENSG00000107338		0.562	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHB	HGNC	protein_coding	OTTHUMT00000052490.1	-	0	76	0	C			37919868	-1	tier1	-	no_errors	ENST00000377707	ensembl	human	known	74_37	missense	26.67	66	24	SNP	1.000	T	T	37919868	C	T	37919868	3	4	68	1	0	0	0	0	1	0	0	0	14313	681	24	3	53	3	SHB	9	37919868	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	17149647	37919868	103293563	109	18563											
CNTNAP3	79937	genome.wustl.edu	37	chr9	39149870	39149870	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgccccctgctgtactaAgatgggatccaccgctttgt	7	10	10	14	2	0	1	0	0	0	1	1	2	1	2	4	1	3	3	4	1	2	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:39149870A>C	ENST00000297668.6	-	10	1655	c.1582T>G	c.(1582-1584)Tta>Gta	p.L528V	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L528V|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L528V|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L440V	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	528	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGCTGTACTAAGATGGGATCC	0.567																																																	0													7	8	7					9																	39149870		2040	4067	6107	SO:0001583	missense	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1582T>G	9.37:g.39149870A>C	ENSP00000297668:p.Leu528Val		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.L528V	ENST00000297668.6	37	c.1582	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	a	3.359	-0.130862	0.06753	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	2.95	0.24	0.15489	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.50633	0.1627	N	0.25890	0.77	0.09310	N	0.999999	B;B;B	0.25743	0.006;0.133;0.035	B;B;B	0.25987	0.006;0.065;0.065	T	0.31530	-0.9940	9	0.19147	T	0.46	.	4.6803	0.12732	0.6121:0.1936:0.0:0.1944	.	528;528;528	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	V	528;528;440;528	ENSP00000297668:L528V;ENSP00000366884:L528V;ENSP00000350863:L440V;ENSP00000366887:L528V	ENSP00000297668:L528V	L	-	1	2	CNTNAP3	39139870	0.000000	0.05858	0.001000	0.08648	0.569000	0.35902	0.093000	0.15086	-0.062000	0.13088	0.378000	0.23410	TTA	CNTNAP3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000106714		0.567	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0	89	0	A	NM_033655		39149870	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	14.77	75	13	SNP	0.000	C	C	39149870	A	C	39149870	3	2	68	1	0	0	0	0	1	0	0	0	3655	69	3	4	2344	4	CNTNAP3	9	39149870	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	1230002	39149870	102063561	110	18564											
TMC1	117531	genome.wustl.edu	37	chr9	75431120	75431120	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatcttcaaccaaggcaTgatctggtaggccagctgtt	9	12	10	10	0	4	2	1	2	3	0	4	2	4	2	2	3	2	4	2	3	3	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:75431120T>C	ENST00000297784.5	+	19	2297	c.1757T>C	c.(1756-1758)aTg>aCg	p.M586T	TMC1_ENST00000340019.3_Missense_Mutation_p.M586T|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.M586T	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	586					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AACCAAGGCATGATCTGGTAG	0.458																																					Pancreas(75;173 1345 14232 34245 43413)												0													183	145	158					9																	75431120		2203	4300	6503	SO:0001583	missense	0			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1757T>C	9.37:g.75431120T>C	ENSP00000297784:p.Met586Thr		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.M586T	ENST00000297784.5	37	c.1757	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577289	0.86645	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.64260	-0.09;-0.09;-0.09	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.67145	0.992;0.992;0.996	D;D;D	0.71870	0.953;0.953;0.975	T	0.82076	-0.0636	10	0.87932	D	0	-29.8285	16.8061	0.85666	0.0:0.0:0.0:1.0	.	553;553;586	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	T	586;586;553;553;553;580;586	ENSP00000297784:M586T;ENSP00000341433:M586T;ENSP00000379538:M586T	ENSP00000297784:M586T	M	+	2	0	TMC1	74620940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATG	TMC1	-	pfam_TMC	ENSG00000165091		0.458	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	-	0	42	0	T			75431120	1	tier1	-	no_errors	ENST00000297784	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	C	C	75431120	T	C	75431120	3	2	68	1	0	0	0	0	1	0	0	0	16031	1464	51	4	1815	4	TMC1	9	75431120	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	36281250	75431120	65782311	111	18565											
PRUNE2	158471	genome.wustl.edu	37	chr9	79318714	79318714	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcagagagaccttttctTtcatttaaggaggctggctg	8	14	11	8	0	3	2	1	0	2	2	3	4	3	3	1	3	1	3	1	3	1	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:79318714T>G	ENST00000376718.3	-	9	7938	c.7815A>C	c.(7813-7815)gaA>gaC	p.E2605D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2246D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2605					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACCTTTTCTTTCATTTAAGG	0.438																																																	0													86	80	82					9																	79318714		1568	3582	5150	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7815A>C	9.37:g.79318714T>G	ENSP00000365908:p.Glu2605Asp		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E2246D	ENST00000376718.3	37	c.6738	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.366|9.366	1.069345|1.069345	0.20147|0.20147	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.51574|.	0.7;0.71|.	5.87|5.87	-0.848|-0.848	0.10727|0.10727	.|.	0.485816|.	0.19131|.	N|.	0.121921|.	T|T	0.21227|0.21227	0.0511|0.0511	L|L	0.31664|0.31664	0.95|0.95	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.12630|.	0.002;0.006|.	B;B|.	0.11329|.	0.006;0.003|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.30078|.	T|.	0.28|.	-2.3197|-2.3197	1.3171|1.3171	0.02109|0.02109	0.1357:0.2299:0.1332:0.5012|0.1357:0.2299:0.1332:0.5012	.|.	2605;2605|.	Q8WUY3-3;Q8WUY3|.	.;PRUN2_HUMAN|.	D|Q	2605;2246;2604|1927	ENSP00000365908:E2605D;ENSP00000397425:E2246D|.	ENSP00000365908:E2605D|.	E|K	-|-	3|1	2|0	PRUNE2|PRUNE2	78508534|78508534	0.095000|0.095000	0.21747|0.21747	0.000000|0.000000	0.03702|0.03702	0.351000|0.351000	0.29236|0.29236	0.177000|0.177000	0.16801|0.16801	-0.378000|-0.378000	0.07918|0.07918	0.482000|0.482000	0.46254|0.46254	GAA|AAG	PRUNE2	-	NULL	ENSG00000106772		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	-	0	51	0	T	NM_138818		79318714	-1	tier1	-	no_errors	ENST00000428286	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.053	G	G	79318714	T	G	79318714	3	3	68	1	0	0	0	0	1	0	0	0	12683	1838	64	4	1495	4	PRUNE2	9	79318714	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	3887594	79318714	61894717	112	18566											
TLE1	7088	genome.wustl.edu	37	chr9	84235427	84235427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattcaggtccatttctgcGtttatctgtgcctcttagac	8	16	7	10	1	4	1	1	0	3	1	5	1	5	1	2	1	2	1	2	1	3	5	rs374215758		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:84235427G>A	ENST00000376499.3	-	9	1704	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_De_novo_Start_OutOfFrame	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	214	CCN domain.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCATTTCTGCGTTTATCTGTG	0.383																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0								G	CYS/ARG	0,4406		0,0,2203	189	167	174		640	5.9	1	9		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLE1	NM_005077.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	214/771	84235427	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"WD repeat domain containing"	11837	protein-coding gene	gene with protein product	"enhancer of split groucho 1"	600189	"transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.640C>T	9.37:g.84235427G>A	ENSP00000365682:p.Arg214Cys		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R214C	ENST00000376499.3	37	c.640	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857797	0.71834	0.0	1.16E-4	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319	T;T	0.47869	0.83;1.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.47716	1.5	0.80722	D	1	D;P;D;D;D	0.69078	0.992;0.843;0.997;0.994;0.989	D;B;P;B;P	0.66602	0.945;0.39;0.776;0.353;0.462	T	0.58222	-0.7674	10	0.49607	T	0.09	-26.0592	15.0693	0.72024	0.0:0.0:0.8582:0.1418	.	140;214;241;224;214	B4E345;B4DEF9;Q59EF7;Q5T3G3;Q04724	.;.;.;.;TLE1_HUMAN	C	214;224;224	ENSP00000365682:R214C;ENSP00000391347:R224C	ENSP00000347102:R224C	R	-	1	0	TLE1	83425247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.826000	0.86716	2.791000	0.96007	0.655000	0.94253	CGC	TLE1	-	NULL	ENSG00000196781		0.383	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	-	0	49	0	G	NM_005077		84235427	-1	tier1	-	no_errors	ENST00000376499	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A	A	84235427	G	A	84235427	3	1	68	1	0	0	0	0	1	0	0	0	15985	1145	40	1	1720	1	TLE1	9	84235427	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	4916713	84235427	56978004	113	18567											
OR1K1	392392	genome.wustl.edu	37	chr9	125562456	125562456	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcgttttattgggactgAcaacaagtcctggacagcag	11	11	10	9	1	0	1	0	1	0	0	2	3	1	3	1	2	2	2	1	2	3	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:125562456A>C	ENST00000277309.2	+	1	87	c.55A>C	c.(55-57)Aca>Cca	p.T19P		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATTGGGACTGACAACAAGTCC	0.527																																																	0													87	83	85					9																	125562456		2203	4300	6503	SO:0001583	missense	0			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"GPCR / Class A : Olfactory receptors"	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.55A>C	9.37:g.125562456A>C	ENSP00000277309:p.Thr19Pro		B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T19P	ENST00000277309.2	37	c.55	CCDS35132.1	9	.	.	.	.	.	.	.	.	.	.	A	4.279	0.050895	0.08243	.	.	ENSG00000165204	ENST00000277309	T	0.00438	7.42	4.32	0.138	0.14793	.	0.222293	0.22838	U	0.055016	T	0.00271	0.0008	L	0.38838	1.175	0.09310	N	1	P	0.41546	0.754	B	0.44044	0.439	T	0.47661	-0.9100	10	0.29301	T	0.29	.	2.2984	0.04156	0.3233:0.4191:0.1006:0.1569	.	19	Q8NGR3	OR1K1_HUMAN	P	19	ENSP00000277309:T19P	ENSP00000277309:T19P	T	+	1	0	OR1K1	124602277	0.000000	0.05858	0.029000	0.17559	0.534000	0.34807	-0.726000	0.04936	0.194000	0.20326	0.533000	0.62120	ACA	OR1K1	-	NULL	ENSG00000165204		0.527	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1K1	HGNC	protein_coding	OTTHUMT00000053958.1	-	0	32	0	A			125562456	1	tier1	-	no_errors	ENST00000277309	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.090	C	C	125562456	A	C	125562456	3	2	68	1	0	0	0	0	1	0	0	0	11001	275	10	4	57	4	OR1K1	9	125562456	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	41327029	125562456	15650975	114	18568											
COL5A1	1289	genome.wustl.edu	37	chr9	137704471	137704471	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccccgggtccccctggCccccgaggaccctccggagc	3	3	13	22	3	0	0	0	0	0	0	2	3	2	2	9	5	1	0	9	5	0	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:137704471C>A	ENST00000371817.3	+	48	4179	c.3765C>A	c.(3763-3765)ggC>ggA	p.G1255G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1255	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCCCCCTGGCCCCCGAGGAC	0.632																																																	0													33	30	31					9																	137704471		2198	4294	6492	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3765C>A	9.37:g.137704471C>A			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1255	ENST00000371817.3	37	c.3765	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	38	0	C	NM_000093		137704471	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.999	A	A	137704471	C	A	137704471	2	1	68	1	0	0	0	0	0	0	0	1	3703	726	26	3		3	COL5A1	9	137704471	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	12142015	137704471	3508960	115	18569											
SEC16A	9919	genome.wustl.edu	37	chr9	139342035	139342035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttacctgctcttctagagTacatgttcacgggggctcca	7	12	9	13	1	3	1	1	0	2	1	4	1	4	1	3	2	3	4	3	2	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:139342035T>C	ENST00000371706.3	-	24	6044	c.6011A>G	c.(6010-6012)tAc>tGc	p.Y2004C	SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313084.5_Missense_Mutation_p.Y188C|SEC16A_ENST00000431893.2_Missense_Mutation_p.Y2004C|SEC16A_ENST00000290037.6_Missense_Mutation_p.Y2004C|SEC16A_ENST00000313050.7_Missense_Mutation_p.Y2182C			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2004	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTTCTAGAGTACATGTTCAC	0.602																																																	0													38	45	43					9																	139342035		2005	4167	6172	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6011A>G	9.37:g.139342035T>C	ENSP00000360771:p.Tyr2004Cys		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.Y2182C	ENST00000371706.3	37	c.6545		9	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598876	0.28445	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T;T;T	0.47177	1.85;0.85;1.44;1.89;1.86;1.89	4.81	2.39	0.29439	.	0.232269	0.44688	D	0.000433	T	0.53061	0.1773	L	0.46157	1.445	0.80722	D	1	D;P;P;P;P;P;D;D	0.69078	0.997;0.938;0.857;0.793;0.69;0.681;0.996;0.997	P;P;P;P;B;B;P;P	0.58970	0.849;0.619;0.671;0.487;0.338;0.215;0.794;0.849	T	0.51364	-0.8715	10	0.72032	D	0.01	-4.9165	9.4567	0.38758	0.7017:0.0:0.0:0.2983	.	23;2182;2004;2004;1572;2004;188;23	B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;Q8N9G1;F6VLX6	.;.;.;.;.;SC16A_HUMAN;.;.	C	2182;576;904;2004;188;23;2004;2004;1572;540	ENSP00000325827:Y2182C;ENSP00000277537:Y576C;ENSP00000403525:Y904C;ENSP00000360771:Y2004C;ENSP00000290037:Y2004C;ENSP00000387583:Y2004C	ENSP00000277537:Y576C	Y	-	2	0	SEC16A	138461856	1.000000	0.71417	0.969000	0.41365	0.067000	0.16453	5.450000	0.66626	0.259000	0.21709	-0.585000	0.04130	TAC	SEC16A	-	NULL	ENSG00000148396		0.602	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0	55	0	T	XM_088459		139342035	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	21.92	56	16	SNP	1.000	C	C	139342035	T	C	139342035	3	2	68	1	0	0	0	0	1	0	0	0	14031	1638	57	4	556	4	SEC16A	9	139342035	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	1637564	139342035	1871396	116	18570											
NOTCH1	4851	genome.wustl.edu	37	chr9	139412339	139412339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagacactggcactcgaAggagcccagcgtgttgatgc	9	7	13	12	2	0	2	0	1	0	1	1	4	0	3	1	2	4	3	1	2	1	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:139412339A>G	ENST00000277541.6	-	8	1381	c.1306T>C	c.(1306-1308)Ttc>Ctc	p.F436L	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	436	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCACTCGAAGGAGCCCAGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													44	50	48					9																	139412339		2192	4286	6478	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1306T>C	9.37:g.139412339A>G	ENSP00000277541:p.Phe436Leu		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.F436L	ENST00000277541.6	37	c.1306	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846237	0.91277	.	.	ENSG00000148400	ENST00000277541	D	0.95853	-3.83	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98626	1.0669	10	0.72032	D	0.01	.	13.105	0.59241	1.0:0.0:0.0:0.0	.	436	P46531	NOTC1_HUMAN	L	436	ENSP00000277541:F436L	ENSP00000277541:F436L	F	-	1	0	NOTCH1	138532160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.051000	0.93849	1.696000	0.51158	0.379000	0.24179	TTC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	51	0	A	NM_017617		139412339	-1			no_errors	ENST00000277541	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G	G	139412339	A	G	139412339	3	3	68	1	0	0	0	0	1	0	0	0	10586	72	3	4	6469	4	NOTCH1	9	139412339	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	70304	139412339	1801092	117	18571											
PHYH	5264	genome.wustl.edu	37	chr10	13337564	13337564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacccattttcttcataaaaTtttctctgttccagggttag	10	17	5	9	0	3	0	1	0	2	0	5	0	4	0	2	1	1	2	2	1	4	8			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:13337564T>G	ENST00000263038.4	-	3	235	c.177A>C	c.(175-177)aaA>aaC	p.K59N	PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000396920.3_Missense_Mutation_p.K40N	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	59					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CTTCATAAAATTTTCTCTGTT	0.323																																																	0													80	82	81					10																	13337564		2202	4300	6502	SO:0001583	missense	0				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"Refsum disease", "phytanoyl-CoA dioxygenase"	602026	"phytanoyl-CoA hydroxylase (Refsum disease)", "phytanoyl-CoA hydroxylase"			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.177A>C	10.37:g.13337564T>G	ENSP00000263038:p.Lys59Asn		A8MTS8|B1ALH5	Missense_Mutation	SNP	pfam_Phytyl_CoA_dOase	p.K59N	ENST00000263038.4	37	c.177	CCDS7097.1	10	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389309	0.42410	.	.	ENSG00000107537	ENST00000263038;ENST00000396920;ENST00000479604	D;D;D	0.90133	-2.62;-2.62;-2.62	5.55	1.76	0.24704	.	0.463751	0.25425	N	0.030768	D	0.83381	0.5242	M	0.67953	2.075	0.32332	N	0.560964	B;P	0.36789	0.066;0.57	B;B	0.28916	0.028;0.096	T	0.78378	-0.2227	10	0.34782	T	0.22	-8.2102	1.6771	0.02823	0.1259:0.2192:0.1303:0.5246	.	40;59	B1ALH6;O14832	.;PAHX_HUMAN	N	59;40;59	ENSP00000263038:K59N;ENSP00000380126:K40N;ENSP00000420117:K59N	ENSP00000263038:K59N	K	-	3	2	PHYH	13377570	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	0.203000	0.17315	0.398000	0.25338	0.455000	0.32223	AAA	PHYH	-	NULL	ENSG00000107537		0.323	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	HGNC	protein_coding	OTTHUMT00000046845.2	-	0	59	0	T			13337564	-1	tier1	-	no_errors	ENST00000263038	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.997	G	G	13337564	T	G	13337564	3	3	68	1	0	0	0	0	1	0	0	0	11903	1490	52	4	867	4	PHYH	10	13337564	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09		13337564	122197183	118	18572											
C10orf71	118461	genome.wustl.edu	37	chr10	50531190	50531190	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcaggagggtgcccgcTgaagtttccaacacccatca	11	7	10	13	1	2	1	2	1	0	0	3	2	3	2	3	2	2	2	3	2	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:50531190T>C	ENST00000374144.3	+	3	888	c.600T>C	c.(598-600)gcT>gcC	p.A200A	C10orf71_ENST00000323868.4_Silent_p.A200A			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	200										endometrium(1)	1						GGGTGCCCGCTGAAGTTTCCA	0.532																																																	0													38	39	39					10																	50531190		1981	4154	6135	SO:0001819	synonymous_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.600T>C	10.37:g.50531190T>C			A0AVL8	Silent	SNP	NULL	p.A200	ENST00000374144.3	37	c.600	CCDS44387.1	10																																																																																			C10orf71	-	NULL	ENSG00000177354		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2		0	47	0	T	NM_199459		50531190	1			no_errors	ENST00000374144	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.957	C	C	50531190	T	C	50531190	2	2	68	1	0	0	0	0	0	0	0	1	1619	1567	55	4		4	C10orf71	10	50531190	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	37193626	50531190	85003557	119	18573											
SLIT1	6585	genome.wustl.edu	37	chr10	98820457	98820457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccttttccacgacagTccacgatgccattgctgcag	8	10	10	13	2	0	1	0	1	0	0	2	3	2	1	4	1	3	2	4	1	0	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:98820457T>C	ENST00000266058.4	-	9	1126	c.881A>G	c.(880-882)gAc>gGc	p.D294G	SLIT1_ENST00000371041.3_Missense_Mutation_p.D294G|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.D294G	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	294	LRRNT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCACGACAGTCCACGATGCC	0.657																																																	0													77	66	69					10																	98820457		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.881A>G	10.37:g.98820457T>C	ENSP00000266058:p.Asp294Gly		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.D294G	ENST00000266058.4	37	c.881	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635997	0.87760	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	4.21	4.21	0.49690	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98956	1.0796	10	0.87932	D	0	.	13.4598	0.61221	0.0:0.0:0.0:1.0	.	294;294	E7EWQ8;O75093	.;SLIT1_HUMAN	G	294;294;270;294;277;270;294	ENSP00000266058:D294G;ENSP00000360109:D294G;ENSP00000315005:D277G;ENSP00000360080:D294G	ENSP00000266058:D294G	D	-	2	0	SLIT1	98810447	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.868000	0.87116	1.776000	0.52262	0.459000	0.35465	GAC	SLIT1	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000187122		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0	66	0	T	NM_003061		98820457	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	missense	27.27	48	18	SNP	1.000	C	C	98820457	T	C	98820457	3	2	68	1	0	0	0	0	1	0	0	0	14784	1667	58	4	3839	4	SLIT1	10	98820457	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	48289267	98820457	36714290	120	18574											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115609147	115609147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactttcccctagcaattTctcttcctttcttttgggag	5	18	6	12	0	2	0	0	0	2	0	5	1	4	1	3	1	2	2	3	1	2	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:115609147T>C	ENST00000361384.2	-	2	2634	c.1717A>G	c.(1717-1719)Aaa>Gaa	p.K573E	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K573E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	573	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CCTAGCAATTTCTCTTCCTTT	0.393								Other identified genes with known or suspected DNA repair function																																									0													157	155	156					10																	115609147		2203	4300	6503	SO:0001583	missense	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1717A>G	10.37:g.115609147T>C	ENSP00000355185:p.Lys573Glu		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.K573E	ENST00000361384.2	37	c.1717	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081146	0.36758	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.66280	-0.2;-0.2	5.56	4.39	0.52855	.	0.500084	0.23206	N	0.050728	T	0.56949	0.2020	M	0.67953	2.075	0.22142	N	0.999339	P	0.52463	0.953	P	0.45195	0.473	T	0.54649	-0.8262	10	0.35671	T	0.21	-15.059	3.2893	0.06943	0.1381:0.0747:0.1442:0.643	.	573	Q6PJP8	DCR1A_HUMAN	E	573	ENSP00000355185:K573E;ENSP00000358311:K573E	ENSP00000355185:K573E	K	-	1	0	DCLRE1A	115599137	0.900000	0.30661	0.676000	0.29932	0.184000	0.23303	0.222000	0.17699	0.995000	0.38917	0.482000	0.46254	AAA	DCLRE1A	-	NULL	ENSG00000198924		0.393	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	-	0	42	0	T	NM_014881		115609147	-1	tier1	-	no_errors	ENST00000361384	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.697	C	C	115609147	T	C	115609147	3	2	68	1	0	0	0	0	1	0	0	0	4303	1792	62	4	1437	4	DCLRE1A	10	115609147	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	16788690	115609147	19925600	121	18575											
INPP5F	22876	genome.wustl.edu	37	chr10	121569640	121569640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaggacaggagaaaggaAgttagcaggagttatgaaag	18	6	14	3	0	0	2	0	1	0	1	0	6	0	5	0	4	2	3	0	4	7	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:121569640A>C	ENST00000361976.2	+	14	1764	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.		I -> S (in OCRL).		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GGAGAAAGGAAGTTAGCAGGA	0.383																																																	0													150	130	136					10																	121569640		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1598A>C	10.37:g.121569640A>C	ENSP00000354519:p.Lys533Thr		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.K533T	ENST00000361976.2	37	c.1598	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138521	0.56936	.	.	ENSG00000198825	ENST00000361976	T	0.22134	1.97	5.04	5.04	0.67666	.	0.168201	0.52532	D	0.000072	T	0.14527	0.0351	N	0.11255	0.115	0.80722	D	1	P	0.47350	0.894	P	0.46049	0.502	T	0.12785	-1.0534	10	0.14656	T	0.56	-20.6508	14.8223	0.70082	1.0:0.0:0.0:0.0	.	533	Q9Y2H2	SAC2_HUMAN	T	533	ENSP00000354519:K533T	ENSP00000354519:K533T	K	+	2	0	INPP5F	121559630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.195000	0.72088	1.911000	0.55334	0.459000	0.35465	AAG	INPP5F	-	NULL	ENSG00000198825		0.383	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	-	0	25	0	A	NM_014937		121569640	1	tier1	-	no_errors	ENST00000361976	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	C	C	121569640	A	C	121569640	3	2	68	1	0	0	0	0	1	0	0	0	7785	72	3	4	1652	4	INPP5F	10	121569640	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	5960493	121569640	13965107	122	18576											
WDR11	55717	genome.wustl.edu	37	chr10	122663626	122663626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgatcatacaaggaaatGtacagaccagctactgctct	14	11	7	9	0	2	2	1	1	1	1	2	3	2	3	1	1	5	3	1	1	6	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:122663626G>T	ENST00000263461.6	+	24	3245	c.2999G>T	c.(2998-3000)tGt>tTt	p.C1000F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.C1000Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACAAGGAAATGTACAGACCAG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											110	110	110					10																	122663626		2203	4300	6503	SO:0001583	missense	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"WD repeat domain containing"	13831	protein-coding gene	gene with protein product		606417	"bromodomain and WD repeat domain containing 2"	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2999G>T	10.37:g.122663626G>T	ENSP00000263461:p.Cys1000Phe		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.C1000F	ENST00000263461.6	37	c.2999	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858948	0.91433	.	.	ENSG00000120008	ENST00000263461	D	0.91464	-2.85	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.996;0.972	D;D;D;P	0.78314	0.991;0.986;0.931;0.549	D	0.94065	0.7330	10	0.52906	T	0.07	-19.3312	20.1802	0.98196	0.0:0.0:1.0:0.0	.	1000;1000;291;529	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	F	1000	ENSP00000263461:C1000F	ENSP00000263461:C1000F	C	+	2	0	WDR11	122653616	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	8.816000	0.91979	2.777000	0.95525	0.655000	0.94253	TGT	WDR11	-	NULL	ENSG00000120008		0.338	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2		0	22	0	G			122663626	1			no_errors	ENST00000263461	ensembl	human	known	74_37	missense	20.00	8	2	SNP	1.000	T	T	122663626	G	T	122663626	3	4	68	1	0	0	0	0	1	0	0	0	17322	1377	48	3	3093	3	WDR11	10	122663626	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1093986	122663626	12871121	123	18577											
C10orf88	80007	genome.wustl.edu	37	chr10	124697275	124697275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttcctgacactcggtcTtatttcccacatggagatga	8	15	8	10	1	1	3	0	2	1	1	4	4	3	3	2	2	0	1	2	2	1	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:124697275T>C	ENST00000481909.1	-	5	1273	c.1049A>G	c.(1048-1050)aAg>aGg	p.K350R	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	350										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		ACACTCGGTCTTATTTCCCAC	0.398																																																	0													126	125	125					10																	124697275		2203	4298	6501	SO:0001583	missense	0			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1049A>G	10.37:g.124697275T>C	ENSP00000419126:p.Lys350Arg		Q0P6C6|Q8N597	Missense_Mutation	SNP	NULL	p.K350R	ENST00000481909.1	37	c.1049	CCDS7632.1	10	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842772	0.32606	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.01	-5.98	0.02220	.	0.927497	0.09035	U	0.858218	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	P	0.37276	0.589	B	0.26864	0.074	T	0.23440	-1.0188	9	0.17832	T	0.49	.	7.8995	0.29725	0.0:0.4981:0.269:0.2329	.	350	Q9H8K7	CJ088_HUMAN	R	350	.	ENSP00000419126:K350R	K	-	2	0	C10orf88	124687265	0.000000	0.05858	0.000000	0.03702	0.856000	0.48823	-0.455000	0.06762	-1.561000	0.01684	0.260000	0.18958	AAG	C10orf88	-	NULL	ENSG00000119965		0.398	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1	-	0	51	0	T	NM_024942		124697275	-1	tier1	-	no_errors	ENST00000481909	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.000	C	C	124697275	T	C	124697275	3	2	68	1	0	0	0	0	1	0	0	0	1627	1609	56	4	296	4	C10orf88	10	124697275	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	2033649	124697275	10837472	124	18578											
INSC	387755	genome.wustl.edu	37	chr11	15199878	15199878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcttcaggtgccttcAggttgagaatgagcatgtcc	7	14	10	10	0	4	2	2	2	2	1	6	3	5	2	2	2	2	2	2	2	1	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:15199878A>G	ENST00000379554.3	+	5	651	c.605A>G	c.(604-606)cAg>cGg	p.Q202R	INSC_ENST00000379556.3_Missense_Mutation_p.Q155R|INSC_ENST00000424273.1_Missense_Mutation_p.Q155R|INSC_ENST00000528567.1_Missense_Mutation_p.Q155R|INSC_ENST00000525218.1_Missense_Mutation_p.Q155R|INSC_ENST00000530161.1_Missense_Mutation_p.Q155R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	202					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGTGCCTTCAGGTTGAGAAT	0.572																																																	0													114	112	112					11																	15199878		1956	4152	6108	SO:0001583	missense	0			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"inscuteable spindle orientation adaptor protein"	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.605A>G	11.37:g.15199878A>G	ENSP00000368872:p.Gln202Arg		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.Q202R	ENST00000379554.3	37	c.605	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	A	8.852	0.944837	0.18356	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.30448	1.54;1.56;1.53;1.54;1.56;1.53	5.41	5.41	0.78517	Armadillo-type fold (1);	0.168649	0.53938	D	0.000048	T	0.21841	0.0526	L	0.29908	0.895	0.40176	D	0.977231	P;B;B;B	0.38195	0.622;0.11;0.372;0.372	B;B;B;B	0.36092	0.217;0.04;0.114;0.114	T	0.06463	-1.0825	10	0.32370	T	0.25	-21.4404	10.6535	0.45661	0.857:0.0:0.0:0.143	.	155;155;155;202	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	R	202;155;155;155;155;155;155	ENSP00000368872:Q202R;ENSP00000368874:Q155R;ENSP00000389161:Q155R;ENSP00000435022:Q155R;ENSP00000436194:Q155R;ENSP00000436113:Q155R	ENSP00000368872:Q202R	Q	+	2	0	INSC	15156454	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.110000	0.71535	2.051000	0.60960	0.459000	0.35465	CAG	INSC	-	superfamily_ARM-type_fold	ENSG00000188487		0.572	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	-	0	96	0	A	NM_001031853		15199878	1	tier1	-	no_errors	ENST00000379554	ensembl	human	known	74_37	missense	10.53	85	10	SNP	0.999	G	G	15199878	A	G	15199878	3	3	68	1	0	0	0	0	1	0	0	0	7791	188	7	4	623	4	INSC	11	15199878	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09		15199878	119806638	125	18579											
NAV2	89797	genome.wustl.edu	37	chr11	19970543	19970543	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagatgagatggacctggaAggcatcagcatggatgcccc	11	6	15	9	0	1	2	1	1	0	2	1	7	1	5	3	5	2	2	3	5	1	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:19970543A>G	ENST00000396087.3	+	11	2730	c.2631A>G	c.(2629-2631)gaA>gaG	p.E877E	NAV2_ENST00000396085.1_Silent_p.E854E|NAV2_ENST00000527559.2_Silent_p.E806E|NAV2_ENST00000540292.1_Silent_p.E808E|NAV2_ENST00000349880.4_Silent_p.E854E|NAV2_ENST00000360655.4_Silent_p.E790E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	877					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGACCTGGAAGGCATCAGCA	0.597																																																	0													68	64	66					11																	19970543		2199	4293	6492	SO:0001819	synonymous_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2631A>G	11.37:g.19970543A>G			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E877	ENST00000396087.3	37	c.2631	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.597	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	26	0	A	NM_145117		19970543	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.752	G	G	19970543	A	G	19970543	2	3	68	1	0	0	0	0	0	0	0	1	10222	69	3	4		4	NAV2	11	19970543	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	4770665	19970543	115035973	126	18580											
RAG1	5896	genome.wustl.edu	37	chr11	36597527	36597527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatggatctttacctgaaGatgaaaccagtatggcgatc	12	11	10	8	1	1	4	0	3	1	1	2	6	1	5	2	2	2	1	2	2	4	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:36597527G>A	ENST00000299440.5	+	2	2785	c.2673G>A	c.(2671-2673)aaG>aaA	p.K891K		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	891					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTTACCTGAAGATGAAACCAG	0.488									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													147	139	142					11																	36597527		2202	4298	6500	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2673G>A	11.37:g.36597527G>A			E9PPC4|Q8IY72|Q8NER2	Silent	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.K891	ENST00000299440.5	37	c.2673	CCDS7902.1	11																																																																																			RAG1	-	NULL	ENSG00000166349		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	-	0	23	0	G	NM_000448		36597527	1	tier1	-	no_errors	ENST00000299440	ensembl	human	known	74_37	silent	26.09	17	6	SNP	1.000	A	A	36597527	G	A	36597527	2	1	68	1	0	0	0	0	0	0	0	1	13048	933	33	3		3	RAG1	11	36597527	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	16626984	36597527	98408989	127	18581											
OR5B12	390191	genome.wustl.edu	37	chr11	58207475	58207475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggtgtggagacaggaGtccagtagaatcaattcaat	13	9	14	5	0	2	2	2	0	0	2	3	4	3	3	1	4	0	1	1	4	4	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:58207475G>A	ENST00000302572.2	-	1	171	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGAGACAGGAGTCCAGTAGAA	0.493																																																	0													72	79	77					11																	58207475		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"GPCR / Class A : Olfactory receptors"	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.150C>T	11.37:g.58207475G>A			B2RNL2|Q6IEV5	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D50	ENST00000302572.2	37	c.150	CCDS31551.1	11																																																																																			OR5B12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172362		0.493	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B12	HGNC	protein_coding	OTTHUMT00000394987.1	-	0	51	0	G	NM_001004733		58207475	-1	tier1	-	no_errors	ENST00000302572	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.927	A	A	58207475	G	A	58207475	2	1	68	1	0	0	0	0	0	0	0	1	11187	1020	36	3		3	OR5B12	11	58207475	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	21609948	58207475	76799041	128	18582											
OR4D9	390199	genome.wustl.edu	37	chr11	59282910	59282910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacccaatgttcttgaCactttctactgcgatgtccc	7	14	8	12	1	2	1	0	1	2	0	3	3	3	2	2	1	2	1	2	1	2	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:59282910C>A	ENST00000329328.3	+	1	525	c.525C>A	c.(523-525)gaC>gaA	p.D175E		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATGTTCTTGACACTTTCTACT	0.517																																																	0													155	143	147					11																	59282910		2201	4295	6496	SO:0001583	missense	0			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.525C>A	11.37:g.59282910C>A	ENSP00000328563:p.Asp175Glu		Q6IFF3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D175E	ENST00000329328.3	37	c.525	CCDS31564.1	11	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039244	0.55003	.	.	ENSG00000172742	ENST00000329328	T	0.00123	8.7	4.33	-1.84	0.07809	GPCR, rhodopsin-like superfamily (1);	0.328099	0.21336	U	0.076204	T	0.00356	0.0011	M	0.79258	2.445	0.09310	N	1	D	0.55605	0.972	D	0.65573	0.936	T	0.35724	-0.9777	10	0.87932	D	0	-2.241	9.7045	0.40207	0.0:0.4703:0.0:0.5297	.	175	Q8NGE8	OR4D9_HUMAN	E	175	ENSP00000328563:D175E	ENSP00000328563:D175E	D	+	3	2	OR4D9	59039486	0.000000	0.05858	0.033000	0.17914	0.980000	0.70556	-0.764000	0.04735	-0.187000	0.10516	0.557000	0.71058	GAC	OR4D9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172742		0.517	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D9	HGNC	protein_coding	OTTHUMT00000394237.1	-	0	79	0	C	NM_001004711		59282910	1	tier1	-	no_errors	ENST00000329328	ensembl	human	known	74_37	missense	33.06	81	40	SNP	0.000	A	A	59282910	C	A	59282910	3	1	68	1	0	0	0	0	1	0	0	0	11098	477	17	3	527	3	OR4D9	11	59282910	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	1075435	59282910	75723606	129	18583											
AHNAK	79026	genome.wustl.edu	37	chr11	62299594	62299594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatccacttctgggccCtctgctttgaaccctggcac	6	12	7	16	0	3	1	1	1	2	0	4	1	4	1	3	2	2	2	3	2	1	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:62299594C>T	ENST00000378024.4	-	5	2569	c.2295G>A	c.(2293-2295)gaG>gaA	p.E765E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	765					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTGGGCCCTCTGCTTTGA	0.512																																																	0													161	166	164					11																	62299594		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2295G>A	11.37:g.62299594C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E765	ENST00000378024.4	37	c.2295	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	183	0	C	NM_024060		62299594	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	27.37	130	49	SNP	0.999	T	T	62299594	C	T	62299594	2	4	68	1	0	0	0	0	0	0	0	1	414	680	24	3		3	AHNAK	11	62299594	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	3016684	62299594	72706922	130	18584											
CTSW	1521	genome.wustl.edu	37	chr11	65650545	65650545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctgtccccaggaattGcgcagtacctggccacttat	7	12	9	13	1	0	0	0	0	0	0	2	1	2	1	5	2	2	3	5	2	3	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:65650545G>T	ENST00000307886.3	+	8	797	c.751G>T	c.(751-753)Gcg>Tcg	p.A251S	CTSW_ENST00000528419.1_Missense_Mutation_p.A251S	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	251					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCCAGGAATTGCGCAGTACCT	0.587																																																	0													221	187	199					11																	65650545		2201	4296	6497	SO:0001583	missense	0			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"Cathepsins"	2546	protein-coding gene	gene with protein product		602364	"cathepsin W (lymphopain)"			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.751G>T	11.37:g.65650545G>T	ENSP00000311300:p.Ala251Ser		Q86VT4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.A251S	ENST00000307886.3	37	c.751	CCDS8117.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.093892	0.94149	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	T;T	0.30981	1.51;1.51	5.38	5.38	0.77491	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.48241	0.1489	M	0.71920	2.185	0.41109	D	0.985723	D;D	0.58268	0.958;0.982	P;P	0.55260	0.772;0.767	T	0.51942	-0.8641	10	0.72032	D	0.01	.	14.6208	0.68582	0.0:0.0:1.0:0.0	.	251;251	P56202;E9PI30	CATW_HUMAN;.	S	251	ENSP00000311300:A251S;ENSP00000436568:A251S	ENSP00000311300:A251S	A	+	1	0	CTSW	65407121	0.956000	0.32656	0.400000	0.26346	0.599000	0.36880	4.684000	0.61686	2.529000	0.85273	0.491000	0.48974	GCG	CTSW	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000172543		0.587	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSW	HGNC	protein_coding	OTTHUMT00000391042.1	-	0	47	0	G	NM_001335		65650545	1	tier1	-	no_errors	ENST00000307886	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.800	T	T	65650545	G	T	65650545	3	4	68	1	0	0	0	0	1	0	0	0	4051	1319	46	3	781	3	CTSW	11	65650545	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	3350951	65650545	69355971	131	18585											
FAM86C	55199	genome.wustl.edu	37	chr11	71498636	71498636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctgcagagtttcaagcgCcgcttcctggcagcgcgcgc	5	9	13	14	5	1	1	1	0	0	1	2	1	2	1	2	1	4	5	2	1	1	3	rs34702231		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:71498636C>T	ENST00000359244.4	+	1	77	c.54C>T	c.(52-54)cgC>cgT	p.R18R	FAM86C1_ENST00000426628.2_Silent_p.R18R|FAM86C1_ENST00000346333.6_Silent_p.R18R	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	18										lung(1)	1						GTTTCAAGCGCCGCTTCCTGG	0.746																																																	0													4	5	5					11																	71498636		1983	3755	5738	SO:0001819	synonymous_variant	0			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"family with sequence similarity 86, member C"	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.54C>T	11.37:g.71498636C>T			Q8N5D3	Silent	SNP	NULL	p.R18	ENST00000359244.4	37	c.54	CCDS41686.1	11																																																																																			FAM86C1	-	NULL	ENSG00000158483		0.746	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM86C1	HGNC	protein_coding	OTTHUMT00000361120.1	-	0	62	0	C	NM_152563		71498636	1	tier1	-	no_errors	ENST00000359244	ensembl	human	known	74_37	silent	6.43	160	11	SNP	0.638	T	T	71498636	C	T	71498636	2	4	68	1	0	0	0	0	0	0	0	1	5668	726	26	3		3	FAM86C	11	71498636	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	5848091	71498636	63507880	132	18586											
PGM2L1	283209	genome.wustl.edu	37	chr11	74056564	74056564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcagaattttagaagAgactgtggtggctaacatat	12	13	10	6	0	1	3	1	0	0	3	1	4	1	3	1	2	2	1	1	2	5	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:74056564A>G	ENST00000298198.4	-	9	1479	c.1168T>C	c.(1168-1170)Tct>Cct	p.S390P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	390					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATTTTAGAAGAGACTGTGGTG	0.333																																																	0													114	107	110					11																	74056564		2200	4293	6493	SO:0001583	missense	0			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"glucose-1,6-bisphosphate synthase"	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1168T>C	11.37:g.74056564A>G	ENSP00000298198:p.Ser390Pro		Q96MQ7|Q9UIK3	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.S390P	ENST00000298198.4	37	c.1168	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594605	0.86953	.	.	ENSG00000165434	ENST00000298198	T	0.71103	-0.54	5.25	5.25	0.73442	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.115081	0.64402	D	0.000011	D	0.89829	0.6828	H	0.98388	4.22	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93247	0.6631	10	0.87932	D	0	-20.9856	13.4021	0.60889	1.0:0.0:0.0:0.0	.	390	Q6PCE3	PGM2L_HUMAN	P	390	ENSP00000298198:S390P	ENSP00000298198:S390P	S	-	1	0	PGM2L1	73734212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.096000	0.63516	0.528000	0.53228	TCT	PGM2L1	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000165434		0.333	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	HGNC	protein_coding	OTTHUMT00000398324.1	-	0	37	0	A	NM_173582		74056564	-1	tier1	-	no_errors	ENST00000298198	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	G	G	74056564	A	G	74056564	3	3	68	1	0	0	0	0	1	0	0	0	11838	304	11	4	724	4	PGM2L1	11	74056564	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	2557928	74056564	60949952	133	18587											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103349922	103349922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatattgatgttccatgtGggggcaaccaagaccagtgg	11	9	12	9	0	0	2	0	1	0	1	1	2	1	2	4	3	1	2	4	3	4	3	rs144717489	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:103349922G>A	ENST00000375735.2	+	89	13009	c.12865G>A	c.(12865-12867)Ggg>Agg	p.G4289R	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.G902R|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4296R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4289					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTCCATGTGGGGGCAACCA	0.438																																																	0													112	110	110					11																	103349922		1958	4150	6108	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12865G>A	11.37:g.103349922G>A	ENSP00000364887:p.Gly4289Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G4296R	ENST00000375735.2	37	c.12886	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756528	0.49362	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093;ENST00000533197	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.9	4.9	0.64082	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.56396	1.775	0.54753	D	0.999981	D;B;B	0.89917	1.0;0.047;0.147	D;B;B	0.76575	0.988;0.206;0.254	T	0.02184	-1.1199	10	0.20046	T	0.44	.	18.4388	0.90656	0.0:0.0:1.0:0.0	.	902;4289;4296	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	R	4289;902;4296;206	ENSP00000364887:G4289R;ENSP00000334021:G902R;ENSP00000381167:G4296R;ENSP00000436736:G206R	ENSP00000334021:G902R	G	+	1	0	DYNC2H1	102855132	1.000000	0.71417	0.943000	0.38184	0.822000	0.46500	8.169000	0.89672	2.422000	0.82143	0.460000	0.39030	GGG	DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.438	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	53	0	G	XM_370652		103349922	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	9.80	45	5	SNP	1.000	A	A	103349922	G	A	103349922	3	1	68	1	0	0	0	0	1	0	0	0	4860	1348	47	3	13244	3	DYNC2H1	11	103349922	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	29293358	103349922	31656594	134	18588											
FOXR1	283150	genome.wustl.edu	37	chr11	118850229	118850229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccctcacaaaagggccccCctccagagtcggaggcttcg	8	6	10	17	2	1	1	1	0	0	1	5	2	3	2	6	3	0	1	6	3	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:118850229C>A	ENST00000317011.3	+	4	687	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	154					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		AAAGGGCCCCCCTCCAGAGTC	0.597																																																	0													43	47	46					11																	118850229		2200	4295	6495	SO:0001819	synonymous_variant	0			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"Forkhead boxes"	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.462C>A	11.37:g.118850229C>A			B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	NULL	p.P131T	ENST00000317011.3	37	c.391	CCDS31688.1	11																																																																																			FOXR1	-	NULL	ENSG00000176302		0.597	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR1	HGNC	protein_coding	OTTHUMT00000389312.1	-	0	49	0	C	NM_181721		118850229	1	tier1	-	no_errors	ENST00000531539	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.996	A	A	118850229	C	A	118850229	2	1	68	1	0	0	0	0	0	0	0	1	6055	610	22	3		3	FOXR1	11	118850229	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	15500307	118850229	16156287	135	18589											
A2ML1	144568	genome.wustl.edu	37	chr12	9013757	9013757	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggtgagtcagggtctacgGtgtctcaagaattcggccac	9	10	13	9	2	3	2	2	1	2	1	5	2	3	2	1	4	1	0	1	4	3	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:9013757G>C	ENST00000299698.7	+	28	3546	c.3366G>C	c.(3364-3366)cgG>cgC	p.R1122R	A2ML1_ENST00000539547.1_Silent_p.R631R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGGGTCTACGGTGTCTCAAGA	0.443																																																	0													138	139	139					12																	9013757		1971	4151	6122	SO:0001819	synonymous_variant	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"C3 and PZP-like, alpha-2-macroglobulin domain containing 9"	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3366G>C	12.37:g.9013757G>C				Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.R1122	ENST00000299698.7	37	c.3366	CCDS8596.2	12																																																																																			A2ML1	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000166535		0.443	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	-	0	60	0	G	NM_144670		9013757	1	tier1	-	no_errors	ENST00000299698	ensembl	human	known	74_37	silent	12.31	57	8	SNP	0.314	C	C	9013757	G	C	9013757	2	2	68	1	0	0	0	0	0	0	0	1	5	1248	44	5		5	A2ML1	12	9013757	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09		9013757	124838138	136	18590											
SOX5	6660	genome.wustl.edu	37	chr12	23687389	23687389	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtgaggggagggcaTcccagccatggcgatggctc	7	5	19	10	1	0	1	0	1	0	0	2	3	1	2	2	7	1	3	2	7	0	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:23687389T>A	ENST00000451604.2	-	15	2157	c.2056A>T	c.(2056-2058)Atg>Ttg	p.M686L	SOX5_ENST00000381381.2_Missense_Mutation_p.M565L|SOX5_ENST00000537393.1_Missense_Mutation_p.M651L|SOX5_ENST00000309359.1_Missense_Mutation_p.M673L|SOX5_ENST00000541536.1_Missense_Mutation_p.M565L|SOX5_ENST00000396007.2_Missense_Mutation_p.M300L|SOX5_ENST00000545921.1_Missense_Mutation_p.M676L|SOX5_ENST00000546136.1_Missense_Mutation_p.M673L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	686					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGGGAGGGCATCCCAGCCATG	0.557																																																	0													73	64	67					12																	23687389		2203	4300	6503	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2056A>T	12.37:g.23687389T>A	ENSP00000398273:p.Met686Leu		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.M686L	ENST00000451604.2	37	c.2056	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111959	0.37242	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.66	5.66	0.87406	.	0.034892	0.85682	D	0.000000	T	0.36690	0.0976	L	0.40543	1.245	0.34660	D	0.722626	B;B;B	0.25850	0.058;0.136;0.0	B;B;B	0.20384	0.01;0.029;0.002	T	0.46148	-0.9212	10	0.41790	T	0.15	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	565;686;300	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	L	673;673;565;686;651;565;300;676	ENSP00000437487:M673L;ENSP00000308927:M673L;ENSP00000370788:M565L;ENSP00000398273:M686L;ENSP00000439832:M651L;ENSP00000441973:M565L;ENSP00000379328:M300L;ENSP00000443520:M676L	ENSP00000308927:M673L	M	-	1	0	SOX5	23578656	1.000000	0.71417	0.937000	0.37676	0.978000	0.69477	4.921000	0.63397	2.285000	0.76669	0.533000	0.62120	ATG	SOX5	-	NULL	ENSG00000134532		0.557	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0	28	0	T	NM_006940		23687389	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.996	A	A	23687389	T	A	23687389	3	1	68	1	0	0	0	0	1	0	0	0	14999	1435	50	5	239	5	SOX5	12	23687389	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	14673632	23687389	110164506	137	18591											
FMNL3	91010	genome.wustl.edu	37	chr12	50041075	50041075	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccttggcatccagtttcTtggcttcctgagccagctgc	5	12	9	15	0	1	1	0	1	1	0	3	1	3	1	5	2	3	4	5	2	0	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:50041075T>A	ENST00000293590.5	-	24	3088	c.2855A>T	c.(2854-2856)aAg>aTg	p.K952M	FMNL3_ENST00000335154.5_Missense_Mutation_p.K952M|FMNL3_ENST00000550488.1_Missense_Mutation_p.K951M|FMNL3_ENST00000352151.5_Missense_Mutation_p.K901M			Q8IVF7	FMNL3_HUMAN	formin-like 3	952					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ATCCAGTTTCTTGGCTTCCTG	0.572																																																	0													88	94	92					12																	50041075		2010	4167	6177	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2855A>T	12.37:g.50041075T>A	ENSP00000293590:p.Lys952Met		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.K952M	ENST00000293590.5	37	c.2855		12	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151401	0.57151	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;D;T	0.82344	-1.47;-1.48;-1.6;-1.47	4.36	4.36	0.52297	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	L	0.56769	1.78	0.53688	D	0.999975	B;B;B	0.30584	0.126;0.194;0.286	B;B;B	0.30251	0.113;0.045;0.035	T	0.79541	-0.1761	10	0.48119	T	0.1	.	12.9829	0.58575	0.0:0.0:0.0:1.0	.	901;952;952	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	M	952;951;901;952	ENSP00000335655:K952M;ENSP00000447479:K951M;ENSP00000344311:K901M;ENSP00000293590:K952M	ENSP00000293590:K952M	K	-	2	0	FMNL3	48327342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.822000	0.27352	1.959000	0.56917	0.528000	0.53228	AAG	FMNL3	-	smart_FH2_Formin	ENSG00000161791		0.572	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		-	0	57	0	T	NM_175736		50041075	-1	tier1	-	no_errors	ENST00000293590	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A	A	50041075	T	A	50041075	3	1	68	1	0	0	0	0	1	0	0	0	5975	1609	56	5	240	5	FMNL3	12	50041075	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	26353686	50041075	83810820	138	18592											
SCN8A	6334	genome.wustl.edu	37	chr12	52162882	52162882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaagaaggccaactgtatCgccaatcacaccggtgcaga	15	5	10	11	2	1	2	1	0	0	2	2	3	1	2	3	2	2	2	3	2	6	1	rs550579591		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:52162882C>T	ENST00000354534.6	+	17	3313	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	SCN8A_ENST00000545061.1_Silent_p.I1045I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1045					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCAACTGTATCGCCAATCACA	0.522													C|||	1	0.000199681	0	0.0014	5008	,	,		22575	0		0	False		,,,				2504	0																0													66	68	67					12																	52162882		2142	4261	6403	SO:0001819	synonymous_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3135C>T	12.37:g.52162882C>T			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I1045	ENST00000354534.6	37	c.3135	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Na_trans_assoc	ENSG00000196876		0.522	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	49	0	C	NM_014191		52162882	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.246	T	T	52162882	C	T	52162882	2	4	68	1	0	0	0	0	0	0	0	1	13969	874	31	1		1	SCN8A	12	52162882	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	2121807	52162882	81689013	139	18593											
RNF41	10193	genome.wustl.edu	37	chr12	56607827	56607827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaacgggttacatcatacCccatgtctcatcactgaaac	13	9	7	12	1	3	1	3	1	1	0	4	2	3	2	2	2	4	1	2	2	4	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:56607827C>T	ENST00000345093.4	-	3	374	c.5G>A	c.(4-6)gGg>gAg	p.G2E	RNF41_ENST00000552656.1_Missense_Mutation_p.G2E|RNF41_ENST00000394013.2_5'UTR|RNF41_ENST00000552244.1_Missense_Mutation_p.G2E	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	2					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TACATCATACCCCATGTCTCA	0.468																																																	0													149	138	142					12																	56607827		2203	4300	6503	SO:0001583	missense	0			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"RING-type (C3HC4) zinc fingers"	18401	protein-coding gene	gene with protein product			"ring finger protein 41"				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.5G>A	12.37:g.56607827C>T	ENSP00000342755:p.Gly2Glu		A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.G2E	ENST00000345093.4	37	c.5	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.349047	0.95807	.	.	ENSG00000181852	ENST00000345093;ENST00000448057;ENST00000552656;ENST00000552244;ENST00000549038	T;T;T;T	0.44482	0.92;0.92;1.18;1.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77459	-0.2580	10	0.87932	D	0	.	19.059	0.93080	0.0:1.0:0.0:0.0	.	2	Q9H4P4	RNF41_HUMAN	E	2	ENSP00000342755:G2E;ENSP00000447303:G2E;ENSP00000448187:G2E;ENSP00000446595:G2E	ENSP00000342755:G2E	G	-	2	0	RNF41	54894094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.816000	0.69222	2.882000	0.98803	0.655000	0.94253	GGG	RNF41	-	NULL	ENSG00000181852		0.468	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	-	0	30	0	C	NM_005785		56607827	-1	tier1	-	no_errors	ENST00000345093	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	T	T	56607827	C	T	56607827	3	4	68	1	0	0	0	0	1	0	0	0	13539	623	22	3	968	3	RNF41	12	56607827	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	4444945	56607827	77244068	140	18594											
XPOT	11260	genome.wustl.edu	37	chr12	64816998	64816998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaaaaaattgacttacGatgaagaatataactttgaa	19	13	6	3	1	0	5	0	4	0	1	0	6	0	5	0	0	2	0	0	0	10	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:64816998G>T	ENST00000332707.5	+	11	1685	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	386					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATTGACTTACGATGAAGAATA	0.244																																																	0													29	33	32					12																	64816998		2196	4280	6476	SO:0001583	missense	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1156G>T	12.37:g.64816998G>T	ENSP00000327821:p.Asp386Tyr		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.D386Y	ENST00000332707.5	37	c.1156	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959621	0.74016	.	.	ENSG00000184575	ENST00000332707	T	0.71817	-0.6	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.82748	-0.0304	9	.	.	.	.	18.5832	0.91180	0.0:0.0:1.0:0.0	.	386	O43592	XPOT_HUMAN	Y	386	ENSP00000327821:D386Y	.	D	+	1	0	XPOT	63103265	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	9.641000	0.98458	2.468000	0.83385	0.650000	0.86243	GAT	XPOT	-	superfamily_ARM-type_fold	ENSG00000184575		0.244	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	-	0	66	0	G	NM_007235		64816998	1	tier1	-	no_errors	ENST00000332707	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	64816998	G	T	64816998	3	4	68	1	0	0	0	0	1	0	0	0	17499	1058	37	2	1194	2	XPOT	12	64816998	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	8209171	64816998	69034897	141	18595											
CAPS2	84698	genome.wustl.edu	37	chr12	75716828	75716828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagagtagaagatgaatttgGcaggtttgctgtactaagtg	13	12	13	3	0	0	4	0	1	0	3	0	4	0	4	0	2	2	5	0	2	6	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:75716828G>T	ENST00000409445.3	-	5	470	c.274C>A	c.(274-276)Cca>Aca	p.P92T	CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000442339.2_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	92							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GATGAATTTGGCAGGTTTGCT	0.284																																																	0													39	35	36					12																	75716828		692	1586	2278	SO:0001583	missense	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.274C>A	12.37:g.75716828G>T	ENSP00000386959:p.Pro92Thr		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.P92T	ENST00000409445.3	37	c.274	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	G	1.931	-0.446013	0.04604	.	.	ENSG00000180881	ENST00000409445	T	0.48201	0.82	3.33	1.37	0.22104	.	0.254999	0.28031	N	0.016875	T	0.29158	0.0725	N	0.24115	0.695	0.20074	N	0.999938	B	0.15719	0.014	B	0.12156	0.007	T	0.19679	-1.0298	10	0.66056	D	0.02	-2.7667	5.9972	0.19501	0.1171:0.1952:0.6878:0.0	.	92	Q9BXY5	CAYP2_HUMAN	T	92	ENSP00000386959:P92T	ENSP00000386959:P92T	P	-	1	0	CAPS2	74003095	0.324000	0.24652	0.006000	0.13384	0.050000	0.14768	0.276000	0.18716	0.191000	0.20236	0.561000	0.74099	CCA	CAPS2	-	NULL	ENSG00000180881		0.284	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	-	0	70	0	G			75716828	-1	tier1	-	no_errors	ENST00000409445	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.201	T	T	75716828	G	T	75716828	3	4	68	1	0	0	0	0	1	0	0	0	2645	1203	42	3	1455	3	CAPS2	12	75716828	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	10899830	75716828	58135067	142	18596											
MGAT4C	25834	genome.wustl.edu	37	chr12	86373533	86373533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaatcatcatccttcagcTtattctccgtccctttgtat	9	16	3	13	1	4	0	3	0	1	0	7	0	6	0	3	0	1	2	3	0	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:86373533T>C	ENST00000604798.1	-	8	2175	c.971A>G	c.(970-972)aAg>aGg	p.K324R	MGAT4C_ENST00000548651.1_Missense_Mutation_p.K324R|MGAT4C_ENST00000552435.2_Silent_p.*112*|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K324R|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K324R|MGAT4C_ENST00000549405.2_Missense_Mutation_p.K324R|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K353R			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	324					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATCCTTCAGCTTATTCTCCGT	0.403																																																	0													79	77	78					12																	86373533		2203	4300	6503	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.971A>G	12.37:g.86373533T>C	ENSP00000474896:p.Lys324Arg		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.K353R	ENST00000604798.1	37	c.1058	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	T	4.751	0.139706	0.09083	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.75	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.41632	1.29	0.47037	D	0.999296	B;B	0.26147	0.143;0.143	B;B	0.30316	0.114;0.114	T	0.16867	-1.0388	10	0.33940	T	0.23	-19.275	12.3605	0.55201	0.1264:0.0:0.0:0.8736	.	353;324	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	R	324;353;324;324;324;324;324	ENSP00000331664:K324R;ENSP00000376900:K353R;ENSP00000449022:K324R;ENSP00000446647:K324R;ENSP00000447253:K324R;ENSP00000449172:K324R	ENSP00000331664:K324R	K	-	2	0	MGAT4C	84897664	1.000000	0.71417	0.995000	0.50966	0.007000	0.05969	8.033000	0.88852	0.989000	0.38761	-0.335000	0.08231	AAG	MGAT4C	-	pfam_Glyco_transf_54	ENSG00000182050		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2		0	14	0	T	NM_013244		86373533	-1			no_errors	ENST00000393205	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	C	C	86373533	T	C	86373533	3	2	68	1	0	0	0	0	1	0	0	0	9585	1609	56	4	469	4	MGAT4C	12	86373533	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	10656705	86373533	47478362	143	18597											
PARP4	143	genome.wustl.edu	37	chr13	25016815	25016815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagagatttcaaggtttgTtttttcatctaggatagaat	12	17	8	4	0	4	2	3	0	1	2	4	4	4	3	0	2	0	2	0	2	4	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:25016815T>A	ENST00000381989.3	-	29	3561	c.3456A>T	c.(3454-3456)aaA>aaT	p.K1152N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1152					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAAGGTTTGTTTTTTCATCT	0.284																																																	0													58	60	60					13																	25016815		2200	4295	6495	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3456A>T	13.37:g.25016815T>A	ENSP00000371419:p.Lys1152Asn		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.K1152N	ENST00000381989.3	37	c.3456	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	t	17.36	3.370686	0.61624	.	.	ENSG00000102699	ENST00000381989	T	0.64438	-0.1	4.65	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.74647	2.275	0.37855	D	0.929512	D	0.89917	1.0	D	0.83275	0.996	T	0.73017	-0.4115	10	0.72032	D	0.01	-24.5518	4.6845	0.12752	0.0:0.5547:0.0:0.4453	.	1152	Q9UKK3	PARP4_HUMAN	N	1152	ENSP00000371419:K1152N	ENSP00000371419:K1152N	K	-	3	2	PARP4	23914815	1.000000	0.71417	0.945000	0.38365	0.946000	0.59487	0.912000	0.28597	0.437000	0.26423	0.529000	0.55759	AAA	PARP4	-	NULL	ENSG00000102699		0.284	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0	58	0	T	NM_006437		25016815	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.998	A	A	25016815	T	A	25016815	3	1	68	1	0	0	0	0	1	0	0	0	11502	1722	60	5	1742	5	PARP4	13	25016815	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09		25016815	90153063	144	18598											
FLT1	2321	genome.wustl.edu	37	chr13	28897002	28897002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttcgctgctggtgaCgctatctagtcttggtttct	6	16	10	9	2	3	1	0	1	3	0	4	1	3	1	0	2	2	5	0	2	3	5	rs554058758		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:28897002C>T	ENST00000282397.4	-	21	3129	c.2878G>A	c.(2878-2880)Gtc>Atc	p.V960I	FLT1_ENST00000540678.1_Missense_Mutation_p.V178I|FLT1_ENST00000543394.1_5'Flank	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	960	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCTGGTGACGCTATCTAGT	0.473																																																	0													223	196	205					13																	28897002		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2878G>A	13.37:g.28897002C>T	ENSP00000282397:p.Val960Ile		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.V960I	ENST00000282397.4	37	c.2878	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109896	0.20714	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.78481	-0.93;-1.18	5.9	3.29	0.37713	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.347511	0.29587	N	0.011734	T	0.55433	0.1920	N	0.12637	0.245	0.80722	D	1	B	0.30439	0.279	B	0.26094	0.066	T	0.40701	-0.9549	10	0.18276	T	0.48	.	8.7246	0.34460	0.0:0.6543:0.0:0.3457	.	960	P17948	VGFR1_HUMAN	I	960;178	ENSP00000282397:V960I;ENSP00000443311:V178I	ENSP00000282397:V960I	V	-	1	0	FLT1	27795002	0.793000	0.28825	0.636000	0.29352	0.828000	0.46876	1.445000	0.35079	0.433000	0.26313	-0.264000	0.10439	GTC	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102755		0.473	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0	48	0	C			28897002	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.980	T	T	28897002	C	T	28897002	3	4	68	1	0	0	0	0	1	0	0	0	5963	536	19	1	1178	1	FLT1	13	28897002	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	3880187	28897002	86272876	145	18599											
SLITRK5	26050	genome.wustl.edu	37	chr13	88328847	88328847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgaaagatcgagagcatcGctgaactgcagcccaagccc	13	4	11	13	3	0	3	0	1	0	2	2	5	0	3	2	0	6	3	2	0	3	0	rs369443848		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:88328847G>A	ENST00000325089.6	+	2	1423	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A161T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	402	LRRNT.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAGAGCATCGCTGAACTGCA	0.567																																																	0								G	THR/ALA	0,4406		0,0,2203	92	76	82		1204	4.8	0.7	13		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	402/959	88328847	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1204G>A	13.37:g.88328847G>A	ENSP00000366283:p.Ala402Thr		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A402T	ENST00000325089.6	37	c.1204	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181449	0.38511	0.0	1.16E-4	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.43688	0.94;0.94	5.75	4.82	0.62117	Leucine-rich repeat-containing N-terminal (1);	0.060511	0.64402	D	0.000002	T	0.23054	0.0557	N	0.12182	0.205	0.38228	D	0.940945	B;B	0.19935	0.04;0.036	B;B	0.17979	0.02;0.011	T	0.12993	-1.0526	9	.	.	.	-8.5884	10.6191	0.45470	0.0:0.0:0.6877:0.3123	.	161;402	B4DSH5;O94991	.;SLIK5_HUMAN	T	402;161	ENSP00000366283:A402T;ENSP00000442244:A161T	.	A	+	1	0	SLITRK5	87126848	1.000000	0.71417	0.708000	0.30435	0.945000	0.59286	3.900000	0.56295	2.714000	0.92807	0.561000	0.74099	GCT	SLITRK5	-	NULL	ENSG00000165300		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3		0	20	0	G			88328847	1			no_errors	ENST00000325089	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.967	A	A	88328847	G	A	88328847	3	1	68	1	0	0	0	0	1	0	0	0	14791	1087	38	1	1206	1	SLITRK5	13	88328847	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	59431845	88328847	26841031	146	18600											
NALCN	259232	genome.wustl.edu	37	chr13	101910908	101910908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaacatgtggaaaacGgatgaccgcatcattttctg	13	10	11	7	2	2	2	1	2	1	0	2	5	2	5	1	3	2	1	1	3	3	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:101910908G>A	ENST00000251127.6	-	11	1233	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	NALCN_ENST00000376196.3_Silent_p.S384S|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	384					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTGGAAAACGGATGACCGCA	0.468																																																	0													70	60	63					13																	101910908		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1152C>T	13.37:g.101910908G>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.S384	ENST00000251127.6	37	c.1152	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	36	0	G	NM_052867		101910908	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.000	A	A	101910908	G	A	101910908	2	1	68	1	0	0	0	0	0	0	0	1	10186	1103	39	1		1	NALCN	13	101910908	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	13582061	101910908	13258970	147	18601											
MYH7	4625	genome.wustl.edu	37	chr14	23895180	23895180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatacccacctctgccGgaagtccccgtagaggatgc	8	7	9	17	2	2	1	1	0	1	1	3	3	3	3	6	2	3	1	6	2	3	2	rs121913637		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:23895180G>A	ENST00000355349.3	-	19	2317	c.2155C>T	c.(2155-2157)Cgg>Tgg	p.R719W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	719	Myosin motor.		R -> Q (in CMH1). {ECO:0000269|PubMed:10521296, ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:7848441}.|R -> W (in CMH1). {ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12081993, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:7874131, ECO:0000269|PubMed:8282798, ECO:0000269|PubMed:9544842, ECO:0000269|PubMed:9822100, ECO:0000269|PubMed:9829907}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACCTCTGCCGGAAGTCCCCG	0.607																																																	0			GRCh37	CM941086	MYH7	M	rs121913637						58	58	58					14																	23895180		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2155C>T	14.37:g.23895180G>A	ENSP00000347507:p.Arg719Trp		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R719W	ENST00000355349.3	37	c.2155	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186164	0.78789	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95482	-3.72	5.03	3.08	0.35506	Myosin head, motor domain (2);	.	.	.	.	D	0.96565	0.8879	M	0.73372	2.23	0.41861	D	0.990227	D	0.65815	0.995	P	0.58820	0.846	D	0.97059	0.9769	9	0.87932	D	0	.	14.4814	0.67585	0.0:0.0:0.5317:0.4683	.	719	P12883	MYH7_HUMAN	W	719	ENSP00000347507:R719W	ENSP00000347507:R719W	R	-	1	2	MYH7	22965020	0.929000	0.31497	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	1.302000	0.44855	0.655000	0.94253	CGG	MYH7	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000092054		0.607	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	150	0	G	NM_000257		23895180	-1	tier1	rs121913637	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	13.16	99	15	SNP	1.000	A	A	23895180	G	A	23895180	3	1	68	1	0	0	0	0	1	0	0	0	10077	1115	39	1	3740	1	MYH7	14	23895180	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09		23895180	83454360	148	18602											
RPS6KL1	83694	genome.wustl.edu	37	chr14	75376518	75376518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtctgagttctggccaGccctcctagcttgaaggtgc	6	10	12	13	1	2	2	0	2	2	0	3	2	3	2	3	2	4	2	3	2	2	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:75376518G>T	ENST00000555647.1	-	8	1285	c.998C>A	c.(997-999)gCt>gAt	p.A333D	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A302D|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A333D|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A333D|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTTCTGGCCAGCCCTCCTAGC	0.677																																																	0													16	18	18					14																	75376518		2203	4300	6503	SO:0001583	missense	0			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.998C>A	14.37:g.75376518G>T	ENSP00000452027:p.Ala333Asp		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A333D	ENST00000555647.1	37	c.998	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	G	3.219	-0.159981	0.06502	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.59224	0.33;0.28;0.33;0.33	5.4	2.55	0.30701	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.144660	0.06525	U	0.740319	T	0.53206	0.1782	L	0.40543	1.245	0.09310	N	1	B;P;P	0.44877	0.049;0.845;0.617	B;P;B	0.46659	0.026;0.523;0.124	T	0.42120	-0.9470	10	0.31617	T	0.26	0.1409	6.8277	0.23893	0.3101:0.0:0.6899:0.0	.	333;333;302	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	D	333;302;333;333	ENSP00000452027:A333D;ENSP00000346644:A302D;ENSP00000450567:A333D;ENSP00000351086:A333D	ENSP00000346644:A302D	A	-	2	0	RPS6KL1	74446271	0.000000	0.05858	0.166000	0.22797	0.011000	0.07611	0.501000	0.22578	1.284000	0.44531	-0.291000	0.09656	GCT	RPS6KL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198208		0.677	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	-	0	109	0	G			75376518	-1	tier1	-	no_errors	ENST00000358328	ensembl	human	known	74_37	missense	21.70	83	23	SNP	0.001	T	T	75376518	G	T	75376518	3	4	68	1	0	0	0	0	1	0	0	0	13704	971	34	3	744	3	RPS6KL1	14	75376518	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	51481338	75376518	31973022	149	18603											
TTLL5	23093	genome.wustl.edu	37	chr14	76211920	76211920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctgagacatgggaaataTatgggtgaggtgactacctt	12	11	12	6	0	1	3	0	3	1	1	1	5	1	4	1	3	1	0	1	3	4	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:76211920T>C	ENST00000298832.9	+	17	1688	c.1483T>C	c.(1483-1485)Tat>Cat	p.Y495H	TTLL5_ENST00000557636.1_Missense_Mutation_p.Y509H|TTLL5_ENST00000556893.1_Missense_Mutation_p.Y33H|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_5'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	495					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGGGAAATATATGGGTGAGG	0.393																																																	0													119	111	113					14																	76211920		2203	4300	6503	SO:0001583	missense	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1483T>C	14.37:g.76211920T>C	ENSP00000298832:p.Tyr495His		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.Y495H	ENST00000298832.9	37	c.1483	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298311	0.81025	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893	T;T;T	0.65549	2.42;2.66;-0.16	5.86	5.86	0.93980	.	0.213565	0.50627	D	0.000105	T	0.78767	0.4335	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.81293	-0.0998	10	0.87932	D	0	.	14.4777	0.67559	0.0:0.0:0.0:1.0	.	509;33;495	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	H	182;509;495;33;33	ENSP00000450713:Y509H;ENSP00000298832:Y495H;ENSP00000452524:Y33H	ENSP00000298832:Y495H	Y	+	1	0	TTLL5	75281673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.751000	0.68720	2.241000	0.73720	0.533000	0.62120	TAT	TTLL5	-	NULL	ENSG00000119685		0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1		0	53	0	T	NM_015072		76211920	1			no_errors	ENST00000298832	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	C	C	76211920	T	C	76211920	3	2	68	1	0	0	0	0	1	0	0	0	16779	1406	49	4	1545	4	TTLL5	14	76211920	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	835402	76211920	31137620	150	18604											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102510643	102510643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaccggataagatcccGtggtctgcactaaagacctt	11	10	8	12	2	2	2	1	0	2	2	4	3	3	3	3	2	1	1	3	2	3	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:102510643G>A	ENST00000360184.4	+	71	12881	c.12717G>A	c.(12715-12717)ccG>ccA	p.P4239P	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4239					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAAGATCCCGTGGTCTGCAC	0.597																																																	0													65	53	57					14																	102510643		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12717G>A	14.37:g.102510643G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.P4239	ENST00000360184.4	37	c.12717	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom	ENSG00000197102		0.597	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	53	0	G	NM_001376		102510643	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	31.25	33	15	SNP	0.006	A	A	102510643	G	A	102510643	2	1	68	1	0	0	0	0	0	0	0	1	4855	1132	40	1		1	DYNC1H1	14	102510643	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	26298723	102510643	4838897	151	18605											
OR4N4	283694	genome.wustl.edu	37	chr15	22382597	22382597	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttatcatcctccctggaaAttttctcattattttcacca	9	17	2	13	0	3	0	3	0	1	0	6	1	5	1	4	1	0	0	4	1	3	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:22382597A>C	ENST00000328795.4	+	1	216	c.125A>C	c.(124-126)aAt>aCt	p.N42T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCCTGGAAATTTTCTCATT	0.443																																																	0													200	199	199					15																	22382597		2194	4278	6472	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.125A>C	15.37:g.22382597A>C	ENSP00000332500:p.Asn42Thr		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N42T	ENST00000328795.4	37	c.125	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	11.92	1.783776	0.31593	.	.	ENSG00000183706	ENST00000328795	T	0.75477	-0.94	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000090	D	0.90504	0.7025	H	0.98802	4.335	0.36724	D	0.881356	D	0.89917	1.0	D	0.97110	1.0	D	0.93235	0.6621	10	0.87932	D	0	-11.2781	9.793	0.40717	1.0:0.0:0.0:0.0	.	42	Q8N0Y3	OR4N4_HUMAN	T	42	ENSP00000332500:N42T	ENSP00000332500:N42T	N	+	2	0	OR4N4	19883961	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	4.536000	0.60636	1.465000	0.48006	0.164000	0.16699	AAT	OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183706		0.443	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	-	0	154	0	A			22382597	1	tier1	-	no_errors	ENST00000328795	ensembl	human	known	74_37	missense	12.09	160	22	SNP	1.000	C	C	22382597	A	C	22382597	3	2	68	1	0	0	0	0	1	0	0	0	11117	101	4	4	127	4	OR4N4	15	22382597	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09		22382597	80148795	152	18606											
OCA2	4948	genome.wustl.edu	37	chr15	28200304	28200305	+	Splice_Site	INS	-	-	T																															aggaaagaaagctgggtaccINStttttttggagttcttggat																										TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:28200304_28200305insT	ENST00000354638.3	-	17	1996_1997	c.1841_1842insA	c.(1840-1842)aag>aaAg	p.K614fs	OCA2_ENST00000353809.5_Splice_Site_p.K590fs|OCA2_ENST00000382996.2_Splice_Site_p.K614fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2). {ECO:0000269|PubMed:10987646}.|K -> N (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCTGGGTACCTTTTTTTGGAG	0.441									Oculocutaneous Albinism																																								0			GRCh37	CD000269|CM952147	OCA2	D|M																																				SO:0001630	splice_region_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1842+1->A	15.37:g.28200311_28200311dupT			Q15211|Q15212|Q96EN1|Q9UMI5	Frame_Shift_Ins	INS	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.H615fs	ENST00000354638.3	37	c.1842_1841	CCDS10020.1	15																																																																																			OCA2	-	pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.441	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1		0	47	0	-	NM_000275	Frame_Shift_Ins	28200305	-1	tier1		no_errors	ENST00000354638	ensembl	human	known	74_37	frame_shift_ins	13.64	38	6	INS	1.000:1.000	T	T	28200305	-	T	28200304	8	5	68	1	0	1	1	0	0	0	1	0	10854	695	24	0	706	0	OCA2	15	28200304	Splice_Site	INS	-	TCGA-L5-A4OU-01A-11D-A28B-09	5817707	28200304	74331088	153	18607											
OSTBETA	123264	genome.wustl.edu	37	chr15	65345468	65345468	+	Frame_Shift_Del	DEL	T	T	-																															agagagagatgtgctgtcagTtttccttccggatgtaccag																										TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:65345468delT	ENST00000334287.2	+	4	674	c.353delT	c.(352-354)gttfs	p.V118fs		NM_178859.3	NP_849190.2	Q86UW2	OSTB_HUMAN	solute carrier family 51, beta subunit	118					bile acid and bile salt transport (GO:0015721)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GTGCTGTCAGTTTTCCTTCCG	0.478																																																	0													98	93	95					15																	65345468		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS10199.1	15q22.31	2013-05-22			ENSG00000186198	ENSG00000186198		"Solute carriers"	29956	protein-coding gene	gene with protein product	"organic solute transporter beta subunit"	612085				12719432, 20538072	Standard	NM_178859		Approved	OSTbeta	uc002aog.3	Q86UW2	OTTHUMG00000133116	ENST00000334287.2:c.353delT	15.37:g.65345468delT	ENSP00000335292:p.Val118fs		Q3SYF5	Frame_Shift_Del	DEL	NULL	p.F119fs	ENST00000334287.2	37	c.353	CCDS10199.1	15																																																																																			SLC51B	-	NULL	ENSG00000186198		0.478	SLC51B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51B	HGNC	protein_coding	OTTHUMT00000256783.1		0	39	0	T	NM_178859		65345468	1	tier1		no_errors	ENST00000334287	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.004	-	-	65345468	T	-	65345468	7	5	68	1	0	1	0	1	0	0	0	0	11334	1725	60	0	363	0	OSTBETA	15	65345468	Frame_Shift_Del	DEL	T	TCGA-L5-A4OU-01A-11D-A28B-09	37145164	65345468	37185924	154	18608											
IGDCC3	9543	genome.wustl.edu	37	chr15	65623958	65623958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccacacactgataaatGgcttcatcctcaggaccgat	11	9	8	13	2	2	1	2	1	0	0	4	3	3	2	3	3	0	1	3	3	2	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:65623958G>A	ENST00000327987.4	-	8	1439	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	396	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGATAAATGGCTTCATCCT	0.607																																																	0													39	37	38					15																	65623958		2201	4299	6500	SO:0001819	synonymous_variant	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1188C>T	15.37:g.65623958G>A			O95215	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A396	ENST00000327987.4	37	c.1188	CCDS10205.1	15																																																																																			IGDCC3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000174498		0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0	41	0	G	NM_004884		65623958	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	silent	29.27	29	12	SNP	1.000	A	A	65623958	G	A	65623958	2	1	68	1	0	0	0	0	0	0	0	1	7595	1335	47	3		3	IGDCC3	15	65623958	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	278490	65623958	36907434	155	18609											
CIB2	10518	genome.wustl.edu	37	chr15	78401611	78401611	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtttgccttgagctcTcggggagccgactcgcagag	7	9	14	11	3	1	2	0	1	1	1	3	4	1	3	2	2	3	4	2	2	1	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:78401611T>C	ENST00000258930.3	-	4	640	c.312A>G	c.(310-312)cgA>cgG	p.R104R	CIB2_ENST00000557846.1_Silent_p.R55R|CIB2_ENST00000560618.1_Silent_p.R61R|CIB2_ENST00000539011.1_Silent_p.R61R	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	104	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCTTGAGCTCTCGGGGAGCCG	0.557																																																	0													95	83	87					15																	78401611		2196	4293	6489	SO:0001819	synonymous_variant	0			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"EF-hand domain containing"	24579	protein-coding gene	gene with protein product		605564	"deafness, autosomal recessive 48", "Usher syndrome 1J (autosomal recessive)"	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.312A>G	15.37:g.78401611T>C			B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	NULL	p.E67G	ENST00000258930.3	37	c.200	CCDS10296.1	15																																																																																			CIB2	-	NULL	ENSG00000136425		0.557	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB2	HGNC	protein_coding	OTTHUMT00000289798.1	-	0	86	0	T	NM_006383		78401611	-1	tier1	-	no_errors	ENST00000557917	ensembl	human	known	74_37	missense	24.73	70	23	SNP	0.654	C	C	78401611	T	C	78401611	2	2	68	1	0	0	0	0	0	0	0	1	3428	1538	54	4		4	CIB2	15	78401611	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	12777653	78401611	24129781	156	18610											
KIF7	374654	genome.wustl.edu	37	chr15	90177098	90177098	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagccgctccgtagcctgcTtcttctccttcagcacctgg	4	11	8	18	2	3	0	1	0	2	0	5	0	4	0	6	1	4	4	6	1	1	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:90177098T>G	ENST00000394412.3	-	12	2487	c.2411A>C	c.(2410-2412)aAg>aCg	p.K804T		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	804					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K291delK(1)|p.K804delK(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGTAGCCTGCTTCTTCTCCTT	0.637																																																	2	Deletion - In frame(2)	large_intestine(2)											57	54	55					15																	90177098		2200	4299	6499	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2411A>C	15.37:g.90177098T>G	ENSP00000377934:p.Lys804Thr		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K804T	ENST00000394412.3	37	c.2411	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368725	0.82463	.	.	ENSG00000166813	ENST00000394412	T	0.38560	1.13	5.18	5.18	0.71444	.	0.047621	0.85682	D	0.000000	T	0.59487	0.2197	M	0.64997	1.995	0.52099	D	0.999942	D;D	0.71674	0.998;0.994	D;P	0.68621	0.959;0.795	T	0.57300	-0.7835	10	0.31617	T	0.26	.	15.0142	0.71570	0.0:0.0:0.0:1.0	.	290;804	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	T	804	ENSP00000377934:K804T	ENSP00000377934:K804T	K	-	2	0	KIF7	87978102	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.714000	0.84703	1.953000	0.56701	0.402000	0.26972	AAG	KIF7	-	NULL	ENSG00000166813		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1		0	61	0	T	NM_198525		90177098	-1			no_errors	ENST00000394412	ensembl	human	known	74_37	missense	12.90	54	8	SNP	1.000	G	G	90177098	T	G	90177098	3	3	68	1	0	0	0	0	1	0	0	0	8336	1609	56	4	1652	4	KIF7	15	90177098	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	11775487	90177098	12354294	157	18611											
CRTC3	64784	genome.wustl.edu	37	chr15	91172647	91172647	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacctgagcggcccgtcTcggcgtcggcagcctcccgt	6	6	12	17	6	1	1	0	1	1	0	4	1	2	1	4	3	3	1	4	3	1	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:91172647T>C	ENST00000268184.6	+	11	1153	c.1149T>C	c.(1147-1149)tcT>tcC	p.S383S	CRTC3_ENST00000420329.2_Silent_p.S383S|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	383					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCGGCCCGTCTCGGCGTCGGC	0.587			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													200	205	203					15																	91172647		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1149T>C	15.37:g.91172647T>C			Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	NULL	p.S383	ENST00000268184.6	37	c.1149	CCDS32331.1	15																																																																																			CRTC3	-	NULL	ENSG00000140577		0.587	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2		0	24	0	T	NM_022769		91172647	1			no_errors	ENST00000268184	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.508	C	C	91172647	T	C	91172647	2	2	68	1	0	0	0	0	0	0	0	1	3908	1538	54	4		4	CRTC3	15	91172647	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	995549	91172647	11358745	158	18612											
ST8SIA2	8128	genome.wustl.edu	37	chr15	92987970	92987970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcctttgaggacttggTcaatgccacgtggcgggaga	7	8	17	9	3	1	2	1	1	0	1	1	4	1	3	2	5	1	0	2	5	1	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:92987970T>C	ENST00000268164.3	+	5	890	c.653T>C	c.(652-654)gTc>gCc	p.V218A	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V197A	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	218					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GAGGACTTGGTCAATGCCACG	0.622																																																	0													60	56	58					15																	92987970		2198	4298	6496	SO:0001583	missense	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.653T>C	15.37:g.92987970T>C	ENSP00000268164:p.Val218Ala		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.V218A	ENST00000268164.3	37	c.653	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	T	8.244	0.807573	0.16467	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.21734	2.3;2.57;1.99	5.78	5.78	0.91487	.	0.272878	0.36134	N	0.002776	T	0.12220	0.0297	N	0.11818	0.18	0.35949	D	0.833746	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.13255	-1.0516	10	0.07813	T	0.8	-9.7515	16.0998	0.81163	0.0:0.0:0.0:1.0	.	197;218	C6G488;Q92186	.;SIA8B_HUMAN	A	218;197;175	ENSP00000268164:V218A;ENSP00000437382:V197A;ENSP00000450851:V175A	ENSP00000268164:V218A	V	+	2	0	ST8SIA2	90788974	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.018000	0.40991	2.199000	0.70637	0.533000	0.62120	GTC	ST8SIA2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000140557		0.622	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	-	0	64	0	T	NM_006011		92987970	1	tier1	-	no_errors	ENST00000268164	ensembl	human	known	74_37	missense	24.44	68	22	SNP	1.000	C	C	92987970	T	C	92987970	3	2	68	1	0	0	0	0	1	0	0	0	15279	1667	58	4	671	4	ST8SIA2	15	92987970	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	1815323	92987970	9543422	159	18613											
MCTP2	55784	genome.wustl.edu	37	chr15	94888377	94888377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggtcaaatcggaagcGattaagtgccagcaaggtaa	13	8	13	7	3	1	0	1	0	0	0	2	2	1	1	1	3	3	3	1	3	5	3	rs139457907		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:94888377G>T	ENST00000357742.4	+	7	989	c.989G>T	c.(988-990)cGa>cTa	p.R330L	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.R330L|MCTP2_ENST00000451018.3_Missense_Mutation_p.R330L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	330					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AATCGGAAGCGATTAAGTGCC	0.318																																																	0													119	122	121					15																	94888377		2197	4297	6494	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.989G>T	15.37:g.94888377G>T	ENSP00000350377:p.Arg330Leu		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R330L	ENST00000357742.4	37	c.989	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833763	0.16820	.	.	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.70869	-0.52;-0.26;-0.09	5.12	3.23	0.37069	.	0.653399	0.14324	N	0.326811	T	0.56949	0.2020	L	0.38175	1.15	0.39812	D	0.97272	B;B;B;B	0.20459	0.015;0.045;0.001;0.011	B;B;B;B	0.15484	0.009;0.013;0.001;0.005	T	0.47328	-0.9126	10	0.24483	T	0.36	.	8.2889	0.31946	0.1865:0.0:0.8135:0.0	.	330;330;330;330	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	L	330	ENSP00000438521:R330L;ENSP00000395109:R330L;ENSP00000350377:R330L	ENSP00000350377:R330L	R	+	2	0	MCTP2	92689381	0.129000	0.22400	0.340000	0.25575	0.985000	0.73830	0.473000	0.22132	0.651000	0.30788	0.650000	0.86243	CGA	MCTP2	-	NULL	ENSG00000140563		0.318	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3		0	39	0	G	NM_018349		94888377	1			no_errors	ENST00000357742	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.589	T	T	94888377	G	T	94888377	3	4	68	1	0	0	0	0	1	0	0	0	9439	1058	37	2	1015	2	MCTP2	15	94888377	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1900407	94888377	7643015	160	18614											
RHBDF1	64285	genome.wustl.edu	37	chr16	109078	109078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagcttctccaggtccCgcaggacagtcatctggaag	8	8	11	14	1	3	0	1	0	2	0	5	2	4	2	3	3	2	2	3	3	1	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:109078C>T	ENST00000262316.6	-	17	2184	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	681					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTCCAGGTCCCGCAGGACAGT	0.592																																																	0													41	39	40					16																	109078		2203	4300	6503	SO:0001583	missense	0			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2042G>A	16.37:g.109078C>T	ENSP00000262316:p.Arg681Gln		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.R681Q	ENST00000262316.6	37	c.2042	CCDS32344.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	34|34	5.380560|5.380560	0.95945|0.95945	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000448893|ENST00000262316	.|T	.|0.12361	.|2.69	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Peptidase S54, rhomboid domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36026|0.36026	0.0952|0.0952	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.63793	.|0.918	T|T	0.01869|0.01869	-1.1257|-1.1257	5|10	.|0.56958	.|D	.|0.05	-35.8189|-35.8189	18.7244|18.7244	0.91708|0.91708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|681	.|Q96CC6	.|RHDF1_HUMAN	R|Q	58|681	.|ENSP00000262316:R681Q	.|ENSP00000262316:R681Q	G|R	-|-	1|2	0|0	RHBDF1|RHBDF1	49078|49078	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	7.755000|7.755000	0.85180|0.85180	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	GGG|CGG	RHBDF1	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000007384		0.592	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	-	0	99	0	C	NM_022450		109078	-1	tier1	-	no_errors	ENST00000262316	ensembl	human	known	74_37	missense	24.72	67	22	SNP	1.000	T	T	109078	C	T	109078	3	4	68	1	0	0	0	0	1	0	0	0	13364	652	23	1	533	1	RHBDF1	16	109078	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09		109078	90245675	161	18615											
PKD1	5310	genome.wustl.edu	37	chr16	2158502	2158502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtagtgccccacaggcagCgccagccgcggcagcaccag	9	2	13	17	3	0	0	0	0	0	0	0	0	0	0	5	2	4	4	5	2	1	1	rs370851999		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:2158502C>T	ENST00000262304.4	-	15	6874	c.6666G>A	c.(6664-6666)gcG>gcA	p.A2222A	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.A2222A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2222	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1). {ECO:0000269|PubMed:11115377}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGGCAGCGCCAGCCGCG	0.701																																																	0								C	,	2,4326		0,2,2162	17	18	17		6666,6666	-10.5	0.5	16		17	0,8518		0,0,4259	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,2,6421	TT,TC,CC		0.0,0.0462,0.0156	,	2222/4303,2222/4304	2158502	2,12844	2164	4259	6423	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6666G>A	16.37:g.2158502C>T			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A2222	ENST00000262304.4	37	c.6666	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat	ENSG00000008710		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	60	0	C			2158502	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	silent	8.11	68	6	SNP	0.303	T	T	2158502	C	T	2158502	2	4	68	1	0	0	0	0	0	0	0	1	12002	755	27	1		1	PKD1	16	2158502	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	2049424	2158502	88196251	162	18616											
ZNF263	10127	genome.wustl.edu	37	chr16	3333830	3333830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctgacgatggcgtcgggCccgggctcccaggaacggga	7	4	17	13	5	0	1	0	1	0	0	2	5	1	3	3	5	1	1	3	5	1	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:3333830C>T	ENST00000219069.5	+	1	888	c.12C>T	c.(10-12)ggC>ggT	p.G4G	ZNF263_ENST00000574253.1_Silent_p.G4G|ZNF263_ENST00000573578.1_Silent_p.G4G|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	4					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGGCGTCGGGCCCGGGCTCCC	0.687																																																	0													28	35	33					16																	3333830		2195	4299	6494	SO:0001819	synonymous_variant	0			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"Zinc fingers, C2H2-type", "-", "-", "-"	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.12C>T	16.37:g.3333830C>T			B2R634|O43387|Q96H95	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G4	ENST00000219069.5	37	c.12	CCDS10499.1	16																																																																																			ZNF263	-	NULL	ENSG00000006194		0.687	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF263	HGNC	protein_coding	OTTHUMT00000251463.2	-	0	31	0	C			3333830	1	tier1	-	no_errors	ENST00000219069	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.000	T	T	3333830	C	T	3333830	2	4	68	1	0	0	0	0	0	0	0	1	17851	726	26	3		3	ZNF263	16	3333830	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	1175328	3333830	87020923	163	18617											
ANKS3	124401	genome.wustl.edu	37	chr16	4751504	4751504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccctcgctgctgctgctGctctggacgggccccaggtt	3	9	14	15	2	1	0	0	0	1	0	2	1	1	1	3	4	4	6	3	4	0	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:4751504G>A	ENST00000304283.4	-	10	1344	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	ANKS3_ENST00000446014.2_Silent_p.S221S|ANKS3_ENST00000450067.2_Silent_p.S144S|ANKS3_ENST00000585773.1_Silent_p.S277S	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	350	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGCTGCTGCTGCTCTGGACGG	0.637																																																	0													40	38	39					16																	4751504		2197	4300	6497	SO:0001819	synonymous_variant	0			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1050C>T	16.37:g.4751504G>A			B4DWU4|D3DUE2|Q8TF25	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S350	ENST00000304283.4	37	c.1050	CCDS10520.1	16																																																																																			ANKS3	-	NULL	ENSG00000168096		0.637	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0	55	0	G	NM_133450		4751504	-1	tier1	-	no_errors	ENST00000304283	ensembl	human	known	74_37	silent	16.67	45	9	SNP	1.000	A	A	4751504	G	A	4751504	2	1	68	1	0	0	0	0	0	0	0	1	690	1310	46	3		3	ANKS3	16	4751504	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1417674	4751504	85603249	164	18618											
C16orf89	146556	genome.wustl.edu	37	chr16	5112546	5112546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcaggggctcctgggCccacttctcccggacacttt	5	9	11	16	1	1	0	0	0	1	0	3	1	2	1	3	4	2	3	3	4	0	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:5112546C>T	ENST00000315997.5	-	2	439	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	C16orf89_ENST00000350219.4_Missense_Mutation_p.A118T|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.A80T|C16orf89_ENST00000422873.1_Missense_Mutation_p.A118T|C16orf89_ENST00000472572.3_Missense_Mutation_p.A80T	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	80						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGCTCCTGGGCCCACTTCTCC	0.547																																																	0													46	50	49					16																	5112546		1889	4124	6013	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.238G>A	16.37:g.5112546C>T	ENSP00000324672:p.Ala80Thr		B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.A118T	ENST00000315997.5	37	c.352	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981243	0.53827	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.98	4.98	0.66077	.	0.232339	0.35970	N	0.002873	T	0.50463	0.1617	M	0.72118	2.19	0.35037	D	0.759354	D;D	0.60575	0.979;0.988	P;P	0.57960	0.681;0.83	T	0.57940	-0.7724	10	0.16420	T	0.52	-21.5695	13.7463	0.62876	0.0:1.0:0.0:0.0	.	80;118	Q6UX73;G3V0F0	CP089_HUMAN;.	T	80;80;80;118;118;80	ENSP00000417158:A80T;ENSP00000420566:A80T;ENSP00000390402:A118T;ENSP00000283478:A118T;ENSP00000324672:A80T	ENSP00000324672:A80T	A	-	1	0	C16orf89	5052547	0.998000	0.40836	0.926000	0.36857	0.055000	0.15305	3.639000	0.54339	2.320000	0.78422	0.462000	0.41574	GCC	C16orf89	-	NULL	ENSG00000153446		0.547	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1		0	34	0	C	NM_152459		5112546	-1			no_errors	ENST00000350219	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.974	T	T	5112546	C	T	5112546	3	4	68	1	0	0	0	0	1	0	0	0	1847	739	26	3	1133	3	C16orf89	16	5112546	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	361042	5112546	85242207	165	18619											
SMG1	23049	genome.wustl.edu	37	chr16	18887619	18887619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgtttagggcacaagTcatttctcccaatattaact	11	14	8	8	0	2	0	1	0	1	0	3	1	2	0	1	2	1	3	1	2	5	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:18887619T>G	ENST00000446231.2	-	13	2129	c.1717A>C	c.(1717-1719)Act>Cct	p.T573P	SMG1_ENST00000565224.1_Missense_Mutation_p.T547P|SMG1_ENST00000389467.3_Missense_Mutation_p.T573P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	573	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGGCACAAGTCATTTCTCCC	0.403																																																	0													44	42	42					16																	18887619		1815	4074	5889	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1717A>C	16.37:g.18887619T>G	ENSP00000402515:p.Thr573Pro		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T573P	ENST00000446231.2	37	c.1717	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418868	0.42918	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01084	5.36;5.36	5.49	5.49	0.81192	Armadillo-type fold (1);	0.077091	0.51477	U	0.000098	T	0.01124	0.0037	N	0.19112	0.55	0.36482	D	0.867912	B	0.23058	0.079	B	0.23150	0.044	T	0.62253	-0.6893	10	0.34782	T	0.22	.	10.7408	0.46152	0.0:0.0744:0.0:0.9256	.	573	Q96Q15	SMG1_HUMAN	P	573	ENSP00000402515:T573P;ENSP00000374118:T573P	ENSP00000374118:T573P	T	-	1	0	SMG1	18795120	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.945000	0.56637	2.073000	0.62155	0.402000	0.26972	ACT	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0	253	0	T	NM_015092		18887619	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	10.86	238	29	SNP	1.000	G	G	18887619	T	G	18887619	3	3	68	1	0	0	0	0	1	0	0	0	14840	1667	58	4	9472	4	SMG1	16	18887619	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	13775073	18887619	71467134	166	18620											
VWA3A	146177	genome.wustl.edu	37	chr16	22111591	22111591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggctcacagtttaaaatGtcagaaactcaccttggctg	11	12	8	10	1	3	1	3	0	0	1	4	1	3	1	1	2	1	3	1	2	3	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:22111591G>A	ENST00000389398.5	+	4	398	c.302G>A	c.(301-303)tGt>tAt	p.C101Y	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	101						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGTTTAAAATGTCAGAAACTC	0.527																																																	0													77	72	73					16																	22111591		692	1591	2283	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.302G>A	16.37:g.22111591G>A	ENSP00000374049:p.Cys101Tyr		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.C101Y	ENST00000389398.5	37	c.302	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.980164	0.00448	.	.	ENSG00000175267	ENST00000389398	T	0.10288	2.89	5.42	-2.81	0.05805	.	0.499342	0.19174	N	0.120880	T	0.02380	0.0073	N	0.03608	-0.345	0.20307	N	0.999915	B	0.02656	0.0	B	0.04013	0.001	T	0.39057	-0.9632	10	0.02654	T	1	.	1.9343	0.03333	0.1364:0.3613:0.1517:0.3506	.	101	A6NCI4	VWA3A_HUMAN	Y	101	ENSP00000374049:C101Y	ENSP00000374049:C101Y	C	+	2	0	VWA3A	22019092	0.002000	0.14202	0.368000	0.25939	0.329000	0.28539	-0.582000	0.05814	-0.188000	0.10499	-0.397000	0.06425	TGT	VWA3A	-	NULL	ENSG00000175267		0.527	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	-	0	35	0	G			22111591	1	tier1	-	no_errors	ENST00000389398	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.011	A	A	22111591	G	A	22111591	3	1	68	1	0	0	0	0	1	0	0	0	17289	1377	48	3	316	3	VWA3A	16	22111591	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	3223972	22111591	68243162	167	18621											
ABCC12	94160	genome.wustl.edu	37	chr16	48119527	48119527	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaattacggagaagagctcGggccacacaaagcagctgac	14	5	12	10	2	0	4	0	2	0	2	1	5	0	4	1	2	4	3	1	2	4	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:48119527G>A	ENST00000311303.3	-	27	4150	c.3805C>T	c.(3805-3807)Cga>Tga	p.R1269*	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1269	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R1269*(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGAAGAGCTCGGGCCACACAA	0.443																																																	1	Substitution - Nonsense(1)	large_intestine(1)											164	162	162					16																	48119527		2201	4300	6501	SO:0001587	stop_gained	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3805C>T	16.37:g.48119527G>A	ENSP00000311030:p.Arg1269*		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R1269*	ENST00000311303.3	37	c.3805	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	G	45	11.954805	0.99621	.	.	ENSG00000140798	ENST00000311303	.	.	.	5.59	3.51	0.40186	.	0.136740	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4151	0.21712	0.094:0.0:0.5717:0.3343	.	.	.	.	X	1269	.	ENSP00000311030:R1269X	R	-	1	2	ABCC12	46677028	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.921000	0.40035	1.369000	0.46134	-0.137000	0.14449	CGA	ABCC12	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000140798		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0	54	0	G	NM_033226		48119527	-1	tier1	-	no_errors	ENST00000311303	ensembl	human	known	74_37	nonsense	20.59	54	14	SNP	1.000	A	A	48119527	G	A	48119527	4	1	68	1	0	0	0	0	0	1	0	0	52	1124	39	1	286	1	ABCC12	16	48119527	Nonsense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	26007936	48119527	42235226	168	18622											
MMP2	4313	genome.wustl.edu	37	chr16	55523591	55523591	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgttggtgggaactcagaAggtgccccctgtgtcttccc	6	11	12	12	0	2	1	1	0	1	1	3	2	3	2	3	3	2	1	3	3	2	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:55523591A>T	ENST00000219070.4	+	7	1544	c.1035A>T	c.(1033-1035)gaA>gaT	p.E345D	MMP2_ENST00000570308.1_Missense_Mutation_p.E269D|MMP2_ENST00000543485.1_Missense_Mutation_p.E269D|MMP2_ENST00000437642.2_Missense_Mutation_p.E295D	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	345	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GGAACTCAGAAGGTGCCCCCT	0.572																																																	0													129	128	128					16																	55523591		2198	4300	6498	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)", "matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1035A>T	16.37:g.55523591A>T	ENSP00000219070:p.Glu345Asp		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.E345D	ENST00000219070.4	37	c.1035	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296403	0.40594	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.17691	2.39;2.26;2.29	4.91	-0.514	0.11958	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.213805	0.47455	D	0.000228	T	0.07052	0.0179	N	0.14661	0.345	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35325	-0.9793	10	0.13853	T	0.58	.	6.3208	0.21217	0.465:0.1352:0.3998:0.0	.	295;345	E9PE45;P08253	.;MMP2_HUMAN	D	345;269;295	ENSP00000219070:E345D;ENSP00000444143:E269D;ENSP00000394237:E295D	ENSP00000219070:E345D	E	+	3	2	MMP2	54081092	0.878000	0.30173	0.971000	0.41717	0.982000	0.71751	0.007000	0.13174	0.012000	0.14892	0.533000	0.62120	GAA	MMP2	-	pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000087245		0.572	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	-	0	97	0	A			55523591	1	tier1	-	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	13.27	84	13	SNP	0.995	T	T	55523591	A	T	55523591	3	4	68	1	0	0	0	0	1	0	0	0	9696	69	3	5	1068	5	MMP2	16	55523591	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	7404064	55523591	34831162	169	18623											
SLC9A5	6553	genome.wustl.edu	37	chr16	67304975	67304975	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaaggctggccgctcTcgcagtgagagcagcgctga	7	6	15	13	3	1	2	0	2	1	1	2	3	1	2	2	3	2	5	2	3	1	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:67304975T>C	ENST00000299798.11	+	16	2618	c.2553T>C	c.(2551-2553)tcT>tcC	p.S851S		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	851					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTGGCCGCTCTCGCAGTGAGA	0.662																																																	0													29	34	33					16																	67304975		2080	4194	6274	SO:0001819	synonymous_variant	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"Solute carriers"	11078	protein-coding gene	gene with protein product		600477	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 5", "solute carrier family 9 (sodium/hydrogen exchanger), member 5"			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2553T>C	16.37:g.67304975T>C			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S851	ENST00000299798.11	37	c.2553	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	T	8.858	0.946122	0.18356	.	.	ENSG00000135740	ENST00000360183	.	.	.	4.76	0.942	0.19525	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56347	-0.7994	5	0.59425	D	0.04	.	5.5934	0.17313	0.0:0.4069:0.1548:0.4382	.	.	.	.	P	363	.	ENSP00000353311:L363P	L	+	2	0	SLC9A5	65862476	0.000000	0.05858	0.997000	0.53966	0.956000	0.61745	-1.782000	0.01772	0.187000	0.20147	-0.403000	0.06358	CTC	SLC9A5	-	NULL	ENSG00000135740		0.662	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	-	0	40	0	T			67304975	1	tier1	-	no_errors	ENST00000299798	ensembl	human	known	74_37	silent	14.71	58	10	SNP	0.817	C	C	67304975	T	C	67304975	2	2	68	1	0	0	0	0	0	0	0	1	14762	1538	54	4		4	SLC9A5	16	67304975	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	11781384	67304975	23049778	170	18624											
CHTF8	54921	genome.wustl.edu	37	chr16	69154483	69154483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgtttgacaaggactgCaaaaggtttctccaggtgga	11	11	13	6	0	1	1	0	1	1	0	2	3	1	3	1	4	1	3	1	4	3	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:69154483C>A	ENST00000448552.2	-	4	332	c.211G>T	c.(211-213)Gca>Tca	p.A71S	CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.A71S|CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000519520.1_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	71					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										ACAAGGACTGCAAAAGGTTTC	0.517																																																	0													120	121	120					16																	69154483		1961	4152	6113	SO:0001583	missense	0				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.211G>T	16.37:g.69154483C>A	ENSP00000408367:p.Ala71Ser		A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	pfam_Chromosome_trans_fidel_Ctf8	p.A71S	ENST00000448552.2	37	c.211	CCDS42185.1	16	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.2|20.2|20.2	3.945545|3.945545|3.945545	0.73672|0.73672|0.73672	.|.|.	.|.|.	ENSG00000168802|ENSG00000168802|ENSG00000168802	ENST00000448552;ENST00000398235|ENST00000522497|ENST00000519520;ENST00000520529	.|.|.	.|.|.	.|.|.	5.1|5.1|5.1	5.1|5.1|5.1	0.69264|0.69264|0.69264	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	D|D|D	0.83908|0.83908|0.83908	0.5356|0.5356|0.5356	M|M|M	0.87758|0.87758|0.87758	2.905|2.905|2.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.76494|.|.	0.999|.|.	D|.|.	0.70487|.|.	0.969|.|.	D|D|D	0.86962|0.86962|0.86962	0.2092|0.2092|0.2092	8|5|6	0.51188|.|0.87932	T|.|D	0.08|.|0	.|.|.	18.4902|18.4902|18.4902	0.90844|0.90844|0.90844	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	71|.|.	P0CG13|.|.	CTF8_HUMAN|.|.	S|F|F	71|93|11	.|.|.	ENSP00000381290:A71S|.|ENSP00000427718:L11F	A|C|L	-|-|-	1|2|3	0|0|2	CHTF8|CHTF8|CHTF8	67711984|67711984|67711984	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.947000|0.947000|0.947000	0.59692|0.59692|0.59692	7.113000|7.113000|7.113000	0.77095|0.77095|0.77095	2.537000|2.537000|2.537000	0.85549|0.85549|0.85549	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|TGC|TTG	CHTF8	-	pfam_Chromosome_trans_fidel_Ctf8	ENSG00000168802		0.517	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF8	HGNC	protein_coding	OTTHUMT00000376352.2	-	0	57	0	C	NM_017804		69154483	-1	tier1	-	no_errors	ENST00000398235	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	A	A	69154483	C	A	69154483	3	1	68	1	0	0	0	0	1	0	0	0	3422	710	25	3	158	3	CHTF8	16	69154483	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	1849508	69154483	21200270	171	18625											
HYDIN	54768	genome.wustl.edu	37	chr16	70874051	70874051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagataaagcaggtcccaAagttgtagctggtgaaggag	14	8	14	5	0	0	2	0	1	0	1	1	4	1	3	1	3	2	4	1	3	6	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:70874051A>G	ENST00000393567.2	-	76	13109	c.12959T>C	c.(12958-12960)tTt>tCt	p.F4320S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4320					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGGTCCCAAAGTTGTAGCT	0.478																																																	0													3	4	4					16																	70874051		1402	3622	5024	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12959T>C	16.37:g.70874051A>G	ENSP00000377197:p.Phe4320Ser		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.F4320S	ENST00000393567.2	37	c.12959	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459318	0.84317	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.05580	3.42	5.59	5.59	0.84812	.	0.000000	0.34223	U	0.004151	T	0.28699	0.0711	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03259	-1.1055	10	0.87932	D	0	.	15.4132	0.74943	1.0:0.0:0.0:0.0	.	4319	F8WD23	.	S	4320;4319	ENSP00000377197:F4320S	ENSP00000313052:F4319S	F	-	2	0	HYDIN	69431552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.003000	0.88520	2.127000	0.65507	0.413000	0.27773	TTT	HYDIN	-	NULL	ENSG00000157423		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	50	0	A			70874051	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	15.09	45	8	SNP	1.000	G	G	70874051	A	G	70874051	3	3	68	1	0	0	0	0	1	0	0	0	7494	14	1	4	2450	4	HYDIN	16	70874051	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	1719568	70874051	19480702	172	18626											
DLG4	1742	genome.wustl.edu	37	chr17	7099575	7099575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttggggttgctccgcaggGacgcagtccctgagcccagg	5	9	15	12	2	0	1	0	1	0	0	2	2	2	2	3	4	2	4	3	4	0	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:7099575G>A	ENST00000399506.2	-	11	1456	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	DLG4_ENST00000302955.6_Missense_Mutation_p.S419F|DLG4_ENST00000399510.2_Missense_Mutation_p.S465F			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	422					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCTCCGCAGGGACGCAGTCCC	0.612																																																	0													57	60	59					17																	7099575		1985	4168	6153	SO:0001583	missense	0			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1265C>T	17.37:g.7099575G>A	ENSP00000382425:p.Ser422Phe		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S465F	ENST00000399506.2	37	c.1394		17	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465792	0.63513	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.15256	2.44;2.44;2.45	4.64	4.64	0.57946	Src homology-3 domain (1);	.	.	.	.	T	0.31327	0.0793	L	0.55990	1.75	0.80722	D	1	P;P;P;P	0.48089	0.789;0.789;0.905;0.764	P;P;P;P	0.55749	0.775;0.775;0.783;0.631	T	0.01648	-1.1304	9	0.54805	T	0.06	.	15.0591	0.71939	0.0:0.0:1.0:0.0	.	462;422;419;465	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	F	422;419;465;465;362;465	ENSP00000382425:S422F;ENSP00000307471:S419F;ENSP00000382428:S465F	ENSP00000293813:S465F	S	-	2	0	DLG4	7040299	1.000000	0.71417	0.999000	0.59377	0.643000	0.38383	9.624000	0.98398	2.395000	0.81488	0.585000	0.79938	TCC	DLG4	-	pirsf_M-assoc_guanylate_kinase,superfamily_SH3_domain	ENSG00000132535		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	-	0	66	0	G	NM_001365		7099575	-1	tier1	-	no_errors	ENST00000399510	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	A	A	7099575	G	A	7099575	3	1	68	1	0	0	0	0	1	0	0	0	4571	1174	41	3	949	3	DLG4	17	7099575	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09		7099575	74095635	173	18627											
TP53	7157	genome.wustl.edu	37	chr17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcccaggacaggcacaaAcacgcacctcaaagctgttc	12	6	7	16	1	2	0	1	0	1	0	4	1	2	1	2	2	2	4	2	2	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:7577117A>C	ENST00000269305.4	-	8	1010	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V274G|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V274G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACAGGCACAAACACGCACCTC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	52	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(1)	breast(8)|upper_aerodigestive_tract(6)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|stomach(1)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|pancreas(1)											70	60	64					17																	7577117		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.821T>G	17.37:g.7577117A>C	ENSP00000269305:p.Val274Gly		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V274G	ENST00000269305.4	37	c.821	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257582	0.80246	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99802	0.9915	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.61697	0.99;0.983;0.97;0.977	D;D;D;D	0.91635	0.998;0.996;0.999;0.998	D	0.96805	0.9592	10	0.87932	D	0	-10.2267	12.5624	0.56288	1.0:0.0:0.0:0.0	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	274;274;274;274;274;263;142	ENSP00000352610:V274G;ENSP00000269305:V274G;ENSP00000398846:V274G;ENSP00000391127:V274G;ENSP00000391478:V274G;ENSP00000425104:V142G	ENSP00000269305:V274G	V	-	2	0	TP53	7517842	0.970000	0.33590	0.681000	0.30009	0.775000	0.43874	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	GTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	44	0	A	NM_000546		7577117	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	34.78	30	16	SNP	0.955	C	C	7577117	A	C	7577117	3	2	68	1	0	0	0	0	1	0	0	0	16429	43	2	4	465	4	TP53	17	7577117	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	477542	7577117	73618093	174	18628											
CHD3	1107	genome.wustl.edu	37	chr17	7798284	7798284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaagaagaatacgAagaggagggagaggaagaag	20	1	19	1	1	0	6	0	0	0	6	0	12	0	10	0	5	1	0	0	5	8	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:7798284A>G	ENST00000330494.7	+	9	1469	c.1319A>G	c.(1318-1320)gAa>gGa	p.E440G	CHD3_ENST00000380358.4_Missense_Mutation_p.E499G|CHD3_ENST00000358181.4_Missense_Mutation_p.E440G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	440	Poly-Glu.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				gaagaatacgaagaggaggga	0.557																																																	0													82	67	72					17																	7798284		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1319A>G	17.37:g.7798284A>G	ENSP00000332628:p.Glu440Gly		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E440G	ENST00000330494.7	37	c.1319	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624314	0.28889	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.41065	1.01;1.01;1.01	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.356329	0.20383	N	0.093407	T	0.33381	0.0861	N	0.08118	0	0.47476	D	0.999434	D;P;D	0.57257	0.969;0.948;0.979	P;P;P	0.50934	0.654;0.452;0.628	T	0.32981	-0.9886	10	0.66056	D	0.02	-19.1783	12.5825	0.56397	1.0:0.0:0.0:0.0	.	440;440;499	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	G	499;440;440	ENSP00000369716:E499G;ENSP00000350907:E440G;ENSP00000332628:E440G	ENSP00000332628:E440G	E	+	2	0	CHD3	7739009	1.000000	0.71417	0.995000	0.50966	0.541000	0.35023	5.501000	0.66950	2.168000	0.68352	0.459000	0.35465	GAA	CHD3	-	superfamily_Znf_FYVE_PHD	ENSG00000170004		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0	62	0	A	NM_001005273		7798284	1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	14.81	69	12	SNP	1.000	G	G	7798284	A	G	7798284	3	3	68	1	0	0	0	0	1	0	0	0	3333	246	9	4	1634	4	CHD3	17	7798284	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	221167	7798284	73396926	175	18629											
RAB34	83871	genome.wustl.edu	37	chr17	27041593	27041593	+	3'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcaaatgtccaggggtcaAgctctggaggaatgagggtg	10	8	17	6	0	2	1	1	1	1	0	3	3	3	3	1	5	2	2	1	5	3	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:27041593A>C	ENST00000395245.3	-	0	1474				RAB34_ENST00000447716.1_3'UTR|RAB34_ENST00000450529.1_3'UTR|PROCA1_ENST00000581289.1_5'Flank|RAB34_ENST00000301043.6_3'UTR|RAB34_ENST00000453384.3_Silent_p.A268A|PROCA1_ENST00000301039.2_5'Flank|RAB34_ENST00000395242.2_3'UTR|RAB34_ENST00000395243.3_3'UTR|RAB34_ENST00000415040.2_3'UTR	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family						antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CCAGGGGTCAAGCTCTGGAGG	0.557																																					Pancreas(175;216 2049 29940 32498 41589)												0													87	83	84					17																	27041593		1568	3582	5150	SO:0001624	3_prime_UTR_variant	0			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"RAB, member RAS oncogene"	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.*68T>G	17.37:g.27041593A>C			B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A268	ENST00000395245.3	37	c.804	CCDS11240.1	17	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.283572	0.01398	.	.	ENSG00000109113	ENST00000419712	.	.	.	5.1	1.53	0.23141	.	.	.	.	.	T	0.37183	0.0994	.	.	.	.	.	.	.	.	.	.	.	.	T	0.41574	-0.9501	3	.	.	.	.	5.2061	0.15291	0.5461:0.3601:0.0938:0.0	.	.	.	.	R	231	.	.	L	-	2	0	RAB34	24065720	0.000000	0.05858	0.006000	0.13384	0.224000	0.24922	0.735000	0.26115	0.324000	0.23333	-0.461000	0.05368	CTT	RAB34	-	smart_Small_GTPase_Ras	ENSG00000109113		0.557	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RAB34	HGNC	protein_coding	OTTHUMT00000345906.1	-	0	42	0	A	NM_031934		27041593	-1	tier1	-	no_errors	ENST00000453384	ensembl	human	known	74_37	silent	9.80	46	5	SNP	0.013	C	C	27041593	A	C	27041593	1	2	68	0	1	0	0	0	0	0	0	0	12969	59	3	4		4	RAB34	17	27041593	3'UTR	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	19243309	27041593	54153617	176	18630											
LASP1	3927	genome.wustl.edu	37	chr17	37074945	37074945	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccatcgtcaacgtgcagCagatcgacgacggctggatg	11	6	12	12	5	1	1	1	0	0	1	3	4	1	2	1	2	3	3	1	2	1	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:37074945C>T	ENST00000318008.6	+	7	1031	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	LASP1_ENST00000435347.3_Nonsense_Mutation_p.Q234*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.Q178*|RP1-56K13.3_ENST00000580121.1_RNA	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	234	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CAACGTGCAGCAGATCGACGA	0.667			T	MLL	AML																																			Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0													122	106	112					17																	37074945		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.700C>T	17.37:g.37074945C>T	ENSP00000325240:p.Gln234*		B4DGQ0|Q96ED2|Q96IG0	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.Q234*	ENST00000318008.6	37	c.700	CCDS11331.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.941588	0.97952	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	.	.	.	5.39	5.39	0.77823	.	2.550840	0.01922	N	0.040585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7153	0.88335	0.0:1.0:0.0:0.0	.	.	.	.	X	234;178;234	.	ENSP00000325240:Q234X	Q	+	1	0	LASP1	34328471	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.002000	0.57053	2.540000	0.85666	0.462000	0.41574	CAG	LASP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000002834		0.667	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LASP1	HGNC	protein_coding	OTTHUMT00000256890.3	-	0	73	0	C	NM_006148		37074945	1	tier1	-	no_errors	ENST00000318008	ensembl	human	known	74_37	nonsense	12.00	66	9	SNP	1.000	T	T	37074945	C	T	37074945	4	4	68	1	0	0	0	0	0	1	0	0	8665	711	25	3	726	3	LASP1	17	37074945	Nonsense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	10033352	37074945	44120265	177	18631											
ERBB2	2064	genome.wustl.edu	37	chr17	37880988	37880989	+	In_Frame_Ins	INS	-	-	TGA																															ttgtccccaggaagcatacgINStgatggctggtgtgggctcc																										TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:37880988_37880989insTGA	ENST00000269571.5	+	20	2476_2477	c.2317_2318insTGA	c.(2317-2319)gtg>gTGAtg	p.774_775insM	ERBB2_ENST00000541774.1_In_Frame_Ins_p.759_760insM|ERBB2_ENST00000445658.2_In_Frame_Ins_p.498_499insM|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_In_Frame_Ins_p.744_745insM|ERBB2_ENST00000406381.2_In_Frame_Ins_p.744_745insM|ERBB2_ENST00000584450.1_In_Frame_Ins_p.774_775insM|ERBB2_ENST00000540147.1_In_Frame_Ins_p.744_745insM			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> MAYVM (in a lung adenocarcinoma sample; somatic mutation).		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V773A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGAAGCATACGTGATGGCTGGT	0.594		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								SO:0001652	inframe_insertion	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2318_2320dupTGA	17.37:g.37880989_37880991dupTGA	ENSP00000269571:p.Met774_Met774dup		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	In_Frame_Ins	INS	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.775in_frame_insM	ENST00000269571.5	37	c.2317_2318	CCDS32642.1	17																																																																																			ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.594	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0	98	0	-			37880989	1	tier1		no_errors	ENST00000269571	ensembl	human	known	74_37	in_frame_ins	67.00	100	203	INS	1.000:1.000	TGA	TGA	37880989	-	TGA	37880988	7	5	68	1	0	1	1	0	0	0	0	0	5222	1145	40	0	2395	0	ERBB2	17	37880988	In_Frame_Ins	INS	-	TCGA-L5-A4OU-01A-11D-A28B-09	806043	37880988	43314222	178	18632											
KRT37	8688	genome.wustl.edu	37	chr17	39580586	39580586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagacagaggctggggcGgcccaggggagtcgacccca	8	2	19	12	2	0	2	0	0	0	2	1	4	0	3	3	7	0	2	3	7	0	0	rs539645480		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:39580586G>A	ENST00000225550.3	-	1	189	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	64	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGCTGGGGCGGCCCAGGGGA	0.642																																																	0													40	40	40					17																	39580586		2203	4300	6503	SO:0001583	missense	0			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.190C>T	17.37:g.39580586G>A	ENSP00000225550:p.Arg64Cys			Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R64C	ENST00000225550.3	37	c.190	CCDS32653.1	17	.	.	.	.	.	.	.	.	.	.	.	15.90	2.970335	0.53614	.	.	ENSG00000108417	ENST00000225550	D	0.82893	-1.66	4.31	-1.92	0.07618	.	0.343196	0.20920	N	0.083299	T	0.80639	0.4661	M	0.69358	2.11	0.20821	N	0.999847	D	0.76494	0.999	P	0.53689	0.732	T	0.71567	-0.4554	10	0.87932	D	0	.	0.4151	0.00447	0.2425:0.1393:0.2611:0.3571	.	64	O76014	KRT37_HUMAN	C	64	ENSP00000225550:R64C	ENSP00000225550:R64C	R	-	1	0	KRT37	36834112	0.000000	0.05858	0.159000	0.22649	0.899000	0.52679	-2.685000	0.00834	-0.578000	0.05959	0.655000	0.94253	CGC	KRT37	-	NULL	ENSG00000108417		0.642	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	HGNC	protein_coding	OTTHUMT00000257714.2	-	0	34	0	G	NM_003770		39580586	-1	tier1	-	no_errors	ENST00000225550	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.010	A	A	39580586	G	A	39580586	3	1	68	1	0	0	0	0	1	0	0	0	8501	1116	39	1	1187	1	KRT37	17	39580586	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1699598	39580586	41614624	179	18633											
GRN	2896	genome.wustl.edu	37	chr17	42427872	42427872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgcgacctggttcaCacccgctgcatcacacccac	7	8	7	19	2	3	0	2	0	1	0	3	1	3	0	4	1	2	3	4	1	0	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:42427872C>T	ENST00000053867.3	+	6	587	c.525C>T	c.(523-525)caC>caT	p.H175H	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	175					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCTGGTTCACACCCGCTGCA	0.617											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													116	110	112					17																	42427872		2203	4300	6503	SO:0001819	synonymous_variant	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.525C>T	17.37:g.42427872C>T		908	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.H169Y	ENST00000053867.3	37	c.505	CCDS11483.1	17																																																																																			GRN	-	NULL	ENSG00000030582		0.617	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	-	0	44	0	C	NM_002087		42427872	1	tier1	-	no_errors	ENST00000586782	ensembl	human	known	74_37	missense	44.90	27	22	SNP	0.000	T	T	42427872	C	T	42427872	2	4	68	1	0	0	0	0	0	0	0	1	6831	477	17	3		3	GRN	17	42427872	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	2847286	42427872	38767338	180	18634											
KIF18B	146909	genome.wustl.edu	37	chr17	43012682	43012682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggcgggcctccaggCgcctgtacagttccacggtg	4	8	14	15	3	0	0	0	0	0	0	2	0	2	0	5	4	2	3	5	4	1	2	rs371614541		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:43012682C>T	ENST00000593135.1	-	3	513	c.416G>A	c.(415-417)cGc>cAc	p.R139H	KIF18B_ENST00000590129.1_Missense_Mutation_p.R148H|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139H|KIF18B_ENST00000587309.1_Missense_Mutation_p.R139H|KIF18B_ENST00000339151.4_Missense_Mutation_p.R139H	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCCTCCAGGCGCCTGTACAG	0.657																																																	0													44	53	50					17																	43012682		1983	4141	6124	SO:0001583	missense	0				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"Kinesins"	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.416G>A	17.37:g.43012682C>T	ENSP00000465992:p.Arg139His		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R139H	ENST00000593135.1	37	c.416	CCDS45709.2	17	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594543	0.46214	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.75704	-0.96;-0.96	5.5	4.51	0.55191	Kinesin, motor domain (4);	0.000000	0.35838	N	0.002954	T	0.80059	0.4554	L	0.52364	1.645	0.19575	N	0.999964	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.975;0.975	T	0.69525	-0.5122	10	0.37606	T	0.19	.	9.5516	0.39313	0.144:0.7815:0.0:0.0746	.	148;148;148	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	H	139	ENSP00000412798:R139H;ENSP00000341466:R139H	ENSP00000341466:R139H	R	-	2	0	KIF18B	40368208	0.968000	0.33430	0.075000	0.20258	0.507000	0.33981	3.255000	0.51484	1.287000	0.44583	0.555000	0.69702	CGC	KIF18B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000186185		0.657	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	-	0	54	0	C	NM_001080443		43012682	-1	tier1	-	no_errors	ENST00000339151	ensembl	human	known	74_37	missense	41.54	37	27	SNP	0.202	T	T	43012682	C	T	43012682	3	4	68	1	0	0	0	0	1	0	0	0	8308	768	27	1	2206	1	KIF18B	17	43012682	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	584810	43012682	38182528	181	18635											
PLEKHM1	9842	genome.wustl.edu	37	chr17	43530941	43530941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcttcctcggcgtttccGgcctgcagcttcaggacagc	4	9	13	15	4	1	0	1	0	0	0	4	1	3	1	3	4	3	4	3	4	0	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:43530941G>A	ENST00000430334.3	-	7	2410	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A	PLEKHM1_ENST00000421073.2_Silent_p.A670A|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	759	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGCGTTTCCGGCCTGCAGCT	0.642																																																	0													4	5	5					17																	43530941		1932	3952	5884	SO:0001819	synonymous_variant	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"Pleckstrin homology (PH) domain containing"	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2277C>T	17.37:g.43530941G>A			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A759	ENST00000430334.3	37	c.2277	CCDS32671.1	17																																																																																			PLEKHM1	-	smart_Pleckstrin_homology	ENSG00000225190		0.642	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	-	0	32	0	G	NM_014798		43530941	-1	tier1	-	no_errors	ENST00000430334	ensembl	human	known	74_37	silent	44.83	32	26	SNP	0.032	A	A	43530941	G	A	43530941	2	1	68	1	0	0	0	0	0	0	0	1	12119	1103	39	1		1	PLEKHM1	17	43530941	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	518259	43530941	37664269	182	18636											
NGFR	4804	genome.wustl.edu	37	chr17	47583763	47583763	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgcgtggaggccgacgAcgccgtgtgccgctgcgcct	3	6	17	15	8	0	0	0	0	0	0	0	3	0	1	5	2	3	1	5	2	0	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:47583763A>T	ENST00000172229.3	+	3	436	c.311A>T	c.(310-312)gAc>gTc	p.D104V	NGFR_ENST00000504201.1_Missense_Mutation_p.D10V|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	104					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GAGGCCGACGACGCCGTGTGC	0.711																																																	0													16	17	16					17																	47583763		2185	4248	6433	SO:0001583	missense	0			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"Tumor necrosis factor receptor superfamily", "CD molecules"	7809	protein-coding gene	gene with protein product	"low affinity nerve growth factor receptor", "TNFR superfamily, member 16"	162010	"nerve growth factor receptor (TNFR superfamily, member 16)"			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.311A>T	17.37:g.47583763A>T	ENSP00000172229:p.Asp104Val		B2R961|B4E096	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16	p.D104V	ENST00000172229.3	37	c.311	CCDS11549.1	17	.	.	.	.	.	.	.	.	.	.	A	33	5.268097	0.95429	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.93547	-3.24;-3.07	5.55	5.55	0.83447	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.042276	0.85682	D	0.000000	D	0.96364	0.8814	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96890	0.9652	10	0.87932	D	0	-36.33	15.348	0.74355	1.0:0.0:0.0:0.0	.	104	P08138	TNR16_HUMAN	V	104;10	ENSP00000172229:D104V;ENSP00000421731:D10V	ENSP00000172229:D104V	D	+	2	0	NGFR	44938762	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	9.010000	0.93611	2.093000	0.63338	0.459000	0.35465	GAC	NGFR	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000064300		0.711	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGFR	HGNC	protein_coding	OTTHUMT00000365150.1	-	0	47	0	A			47583763	1	tier1	-	no_errors	ENST00000172229	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	47583763	A	T	47583763	3	4	68	1	0	0	0	0	1	0	0	0	10435	275	10	5	321	5	NGFR	17	47583763	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	4052822	47583763	33611447	183	18637											
KIF2B	84643	genome.wustl.edu	37	chr17	51901055	51901055	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtctgcgtgaggaagCggcctctcaaccagcgagag	8	7	14	12	4	3	2	1	1	3	1	4	4	3	3	2	2	5	0	2	2	2	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:51901055C>A	ENST00000268919.4	+	1	817	c.661C>A	c.(661-663)Cgg>Agg	p.R221R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	221	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R221W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAGGAAGCGGCCTCTCAA	0.547																																																	1	Substitution - Missense(1)	endometrium(1)											89	75	80					17																	51901055		2203	4300	6503	SO:0001819	synonymous_variant	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.661C>A	17.37:g.51901055C>A			Q96MA2|Q9BXG6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R221	ENST00000268919.4	37	c.661	CCDS32685.1	17																																																																																			KIF2B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000141200		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0	26	0	C	NM_032559		51901055	1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.984	A	A	51901055	C	A	51901055	2	1	68	1	0	0	0	0	0	0	0	1	8325	759	27	2		2	KIF2B	17	51901055	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	4317292	51901055	29294155	184	18638											
RNF43	54894	genome.wustl.edu	37	chr17	56439977	56439977	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaaagatggtgcccacCactgtcattaggatccacac	13	8	7	13	0	2	1	2	0	0	1	3	2	3	2	3	2	1	0	3	2	2	1	rs377300761		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:56439977C>A	ENST00000584437.1	-	5	2570	c.615G>T	c.(613-615)gtG>gtT	p.V205V	RNF43_ENST00000581868.1_Silent_p.V78V|RNF43_ENST00000407977.2_Silent_p.V205V|RNF43_ENST00000500597.2_Silent_p.V164V|RNF43_ENST00000577625.1_Silent_p.V78V|RNF43_ENST00000583753.1_Silent_p.V164V|RNF43_ENST00000577716.1_Silent_p.V205V|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	205					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGCCCACCACTGTCATTA	0.597																																																	0													111	93	99					17																	56439977		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.615G>T	17.37:g.56439977C>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.V205	ENST00000584437.1	37	c.615	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0	80	0	C	NM_017763		56439977	-1	tier1	-	no_errors	ENST00000407977	ensembl	human	known	74_37	silent	13.70	63	10	SNP	1.000	A	A	56439977	C	A	56439977	2	1	68	1	0	0	0	0	0	0	0	1	13540	581	21	3		3	RNF43	17	56439977	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	4538922	56439977	24755233	185	18639											
GRIN2C	2905	genome.wustl.edu	37	chr17	72843625	72843625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttgttgaagaccagcGcccacagcagccacacggac	11	5	11	14	2	0	3	0	2	0	1	0	4	0	4	3	1	3	3	3	1	1	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:72843625G>A	ENST00000293190.5	-	9	1969	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	GRIN2C_ENST00000347612.4_Missense_Mutation_p.A608V	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	608					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAGACCAGCGCCCACAGCAG	0.627																																																	0													41	39	40					17																	72843625		2203	4300	6503	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1823C>T	17.37:g.72843625G>A	ENSP00000293190:p.Ala608Val		B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A608V	ENST00000293190.5	37	c.1823	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571988	0.45798	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.57907	0.37	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.062031	0.64402	D	0.000005	T	0.72011	0.3408	M	0.74467	2.265	0.52501	D	0.999951	D;D	0.89917	0.999;1.0	D;D	0.72338	0.97;0.977	T	0.77021	-0.2742	10	0.87932	D	0	.	16.89	0.86084	0.0:0.0:1.0:0.0	.	642;608	Q8IW23;Q14957	.;NMDE3_HUMAN	V	608;642	ENSP00000293190:A608V	ENSP00000293190:A608V	A	-	2	0	GRIN2C	70355220	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	6.750000	0.74888	2.357000	0.79964	0.561000	0.74099	GCG	GRIN2C	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000161509		0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	-	0	98	0	G			72843625	-1	tier1	-	no_errors	ENST00000293190	ensembl	human	known	74_37	missense	49.30	71	70	SNP	0.996	A	A	72843625	G	A	72843625	3	1	68	1	0	0	0	0	1	0	0	0	6808	1087	38	1	1898	1	GRIN2C	17	72843625	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	16403648	72843625	8351585	186	18640											
RNF213	57674	genome.wustl.edu	37	chr17	78346353	78346353	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaccagtgcttactcCagaaatgatgaactgaacca	16	7	9	9	0	0	6	0	3	0	3	1	7	1	6	3	0	4	1	3	0	5	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:78346353C>T	ENST00000582970.1	+	48	12713	c.12570C>T	c.(12568-12570)tcC>tcT	p.S4190S	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.S4239S|RNF213_ENST00000336301.6_Silent_p.S2263S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4190					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCTTACTCCAGAAATGATG	0.458																																																	0													40	36	37					17																	78346353		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12570C>T	17.37:g.78346353C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S4190	ENST00000582970.1	37	c.12570	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.458	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	66	0	C	NM_020914		78346353	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	11.11	72	9	SNP	0.000	T	T	78346353	C	T	78346353	2	4	68	1	0	0	0	0	0	0	0	1	13522	581	21	3		3	RNF213	17	78346353	Silent	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	5502728	78346353	2848857	187	18641											
NDC80	10403	genome.wustl.edu	37	chr18	2579004	2579004	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcacattgtggcagccttAgtttggctaatagactgcat	9	13	9	10	0	1	1	1	0	0	1	1	1	1	1	2	2	2	4	2	2	3	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:2579004A>G	ENST00000261597.4	+	6	737	c.555A>G	c.(553-555)ttA>ttG	p.L185L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	185	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGGCAGCCTTAGTTTGGCTAA	0.383																																																	0													92	82	85					18																	2579004		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.555A>G	18.37:g.2579004A>G			Q6PJX2	Silent	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.L185	ENST00000261597.4	37	c.555	CCDS11827.1	18																																																																																			NDC80	-	pfam_Kinetochore_Ndc80	ENSG00000080986		0.383	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	-	0	69	0	A	NM_006101		2579004	1	tier1	-	no_errors	ENST00000261597	ensembl	human	known	74_37	silent	17.78	74	16	SNP	1.000	G	G	2579004	A	G	2579004	2	3	68	1	0	0	0	0	0	0	0	1	10281	417	15	4		4	NDC80	18	2579004	Silent	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09		2579004	75498244	188	18642											
LAMA1	284217	genome.wustl.edu	37	chr18	7079982	7079982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctcacctacctgtcttaAgtccagagtgattgtgaccc	8	11	10	12	0	2	3	1	2	1	1	3	3	3	3	4	1	1	1	4	1	2	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:7079982A>C	ENST00000389658.3	-	3	430	c.337T>G	c.(337-339)Tta>Gta	p.L113V	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	113	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCTGTCTTAAGTCCAGAGTG	0.478																																																	0													182	137	152					18																	7079982		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.337T>G	18.37:g.7079982A>C	ENSP00000374309:p.Leu113Val			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L113V	ENST00000389658.3	37	c.337	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999361	0.74818	.	.	ENSG00000101680	ENST00000389658	D	0.84589	-1.87	5.61	-0.621	0.11564	Laminin, N-terminal (3);	0.202993	0.34025	N	0.004324	D	0.93070	0.7794	H	0.94620	3.56	0.44268	D	0.997127	D	0.89917	1.0	D	0.91635	0.999	D	0.92793	0.6250	10	0.87932	D	0	.	11.6545	0.51309	0.6272:0.0:0.3728:0.0	.	113	P25391	LAMA1_HUMAN	V	113	ENSP00000374309:L113V	ENSP00000374309:L113V	L	-	1	2	LAMA1	7069982	0.907000	0.30839	0.997000	0.53966	0.993000	0.82548	0.075000	0.14686	0.100000	0.17581	0.533000	0.62120	TTA	LAMA1	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	38	0	A	NM_005559		7079982	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.993	C	C	7079982	A	C	7079982	3	2	68	1	0	0	0	0	1	0	0	0	8633	69	3	4	9134	4	LAMA1	18	7079982	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	4500978	7079982	70997266	189	18643											
ANKRD12	23253	genome.wustl.edu	37	chr18	9279564	9279564	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtctgatgacagtaaaacTtctgtgagggatcgctttaa	12	13	10	6	1	2	3	0	3	2	0	3	4	2	4	0	1	1	2	0	1	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:9279564T>G	ENST00000262126.4	+	12	6165	c.5925T>G	c.(5923-5925)acT>acG	p.T1975T	ANKRD12_ENST00000383440.2_Silent_p.T1952T|snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.T1952T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1975						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAGTAAAACTTCTGTGAGGG	0.294																																																	0													102	111	108					18																	9279564		2203	4298	6501	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5925T>G	18.37:g.9279564T>G			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T1975	ENST00000262126.4	37	c.5925	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.294	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	-	0	80	0	T	NM_015208		9279564	1	tier1	-	no_errors	ENST00000262126	ensembl	human	known	74_37	silent	6.25	75	5	SNP	1.000	G	G	9279564	T	G	9279564	2	3	68	1	0	0	0	0	0	0	0	1	640	1596	56	4		4	ANKRD12	18	9279564	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	2199582	9279564	68797684	190	18644											
POTEC	388468	genome.wustl.edu	37	chr18	14522271	14522271	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgatactcttcattcTcagtgtcaggaaattgctga	10	14	8	9	0	4	2	3	2	2	0	5	3	4	3	1	1	2	1	1	1	2	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:14522271T>G	ENST00000358970.5	-	9	1390	c.1391A>C	c.(1390-1392)gAg>gCg	p.E464A		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	464										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTCTTCATTCTCAGTGTCAGG	0.388																																																	0													2	2	2					18																	14522271		485	1077	1562	SO:0001583	missense	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1391A>C	18.37:g.14522271T>G	ENSP00000351856:p.Glu464Ala			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E464A	ENST00000358970.5	37	c.1391	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	T	9.280	1.047960	0.19827	.	.	ENSG00000183206	ENST00000358970	T	0.33438	1.41	1.4	1.4	0.22301	.	.	.	.	.	T	0.26557	0.0649	M	0.65975	2.015	0.09310	N	1	P	0.38767	0.646	B	0.34093	0.175	T	0.25572	-1.0128	9	0.72032	D	0.01	.	4.9723	0.14123	0.0:0.0:0.0:1.0	.	464	B2RU33	POTEC_HUMAN	A	464	ENSP00000351856:E464A	ENSP00000351856:E464A	E	-	2	0	POTEC	14512271	0.003000	0.15002	0.002000	0.10522	0.023000	0.10783	1.269000	0.33074	0.898000	0.36418	0.163000	0.16589	GAG	POTEC	-	NULL	ENSG00000183206		0.388	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0	113	0	T	XM_496269		14522271	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	missense	17.12	92	19	SNP	0.003	G	G	14522271	T	G	14522271	3	3	68	1	0	0	0	0	1	0	0	0	12301	1551	54	4	249	4	POTEC	18	14522271	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	5242707	14522271	63554977	191	18645											
ZNF521	25925	genome.wustl.edu	37	chr18	22806956	22806956	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaatgctgcatgagttcTtcttctccccgctatgcacc	9	12	6	14	1	3	1	0	1	3	0	4	1	3	1	3	0	4	5	3	0	3	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:22806956T>G	ENST00000361524.3	-	4	1074	c.926A>C	c.(925-927)aAg>aCg	p.K309T	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.K309T|ZNF521_ENST00000584787.1_Missense_Mutation_p.K89T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	309					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCATGAGTTCTTCTTCTCCCC	0.542			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													122	113	116					18																	22806956		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.926A>C	18.37:g.22806956T>G	ENSP00000354794:p.Lys309Thr		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K309T	ENST00000361524.3	37	c.926	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477353	0.26511	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27720	1.65;1.65	6.02	6.02	0.97574	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.047970	0.85682	D	0.000000	T	0.32102	0.0818	L	0.33753	1.03	0.44570	D	0.997535	P	0.49783	0.928	P	0.46026	0.501	T	0.04467	-1.0949	10	0.59425	D	0.04	-32.9744	16.5446	0.84426	0.0:0.0:0.0:1.0	.	309	Q96K83	ZN521_HUMAN	T	309;343;309	ENSP00000354794:K309T;ENSP00000382352:K309T	ENSP00000354794:K309T	K	-	2	0	ZNF521	21060954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.311000	0.77944	0.533000	0.62120	AAG	ZNF521	-	pfscan_Znf_C2H2	ENSG00000198795		0.542	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	79	0	T	NM_015461		22806956	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	9.90	91	10	SNP	1.000	G	G	22806956	T	G	22806956	3	3	68	1	0	0	0	0	1	0	0	0	18013	1609	56	4	3029	4	ZNF521	18	22806956	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	8284685	22806956	55270292	192	18646											
CACNA1A	773	genome.wustl.edu	37	chr19	13414639	13414639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccatgccgccctgcacGcccccctgagacttgatccc	8	6	7	20	2	0	2	0	2	0	1	1	3	1	2	7	0	3	1	7	0	1	1	rs535077726		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:13414639G>A	ENST00000360228.5	-	16	2045	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	CACNA1A_ENST00000573710.2_Silent_p.G683G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	683					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCCCTGCACGCCCCCCTGAG	0.557													G|||	1	0.000199681	0	0	5008	,	,		14364	0.001		0	False		,,,				2504	0																0													172	177	175					19																	13414639		2026	4179	6205	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2046C>T	19.37:g.13414639G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.G682	ENST00000360228.5	37	c.2046	CCDS45998.1	19																																																																																			CACNA1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000141837		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	-	0	40	0	G	NM_000068		13414639	-1	tier1	-	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.951	A	A	13414639	G	A	13414639	2	1	68	1	0	0	0	0	0	0	0	1	2545	1074	38	1		1	CACNA1A	19	13414639	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09		13414639	45714344	193	18647											
RFXANK	8625	genome.wustl.edu	37	chr19	19304837	19304837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggaccctgaagaccccGgagaggaggctgcagatggc	9	5	17	10	1	0	4	0	1	0	3	0	7	0	6	3	6	1	2	3	6	1	1	rs559367724		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:19304837G>A	ENST00000303088.4	+	3	556	c.82G>A	c.(82-84)Gga>Aga	p.G28R	RFXANK_ENST00000353145.1_Missense_Mutation_p.G28R|MEF2B_ENST00000602424.2_5'Flank|MEF2BNB_ENST00000585679.1_5'Flank|MEF2BNB_ENST00000462790.3_5'Flank|RFXANK_ENST00000392324.4_Missense_Mutation_p.G28R|RFXANK_ENST00000407360.3_Missense_Mutation_p.G28R|MEF2BNB_ENST00000477565.3_5'Flank|RFXANK_ENST00000456252.3_Missense_Mutation_p.G28R|MEF2BNB-MEF2B_ENST00000514819.3_5'Flank|MEF2B_ENST00000162023.5_5'Flank|MEF2BNB-MEF2B_ENST00000444486.3_5'Flank|MEF2BNB_ENST00000494489.2_5'Flank	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	28					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TGAAGACCCCGGAGAGGAGGC	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		16584	0		0	False		,,,				2504	0																0													134	130	131					19																	19304837		2203	4300	6503	SO:0001583	missense	0			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"Ankyrin repeat domain containing"	9987	protein-coding gene	gene with protein product	"ankyrin repeat-containing regulatory factor X-associated protein", "regulatory factor X subunit B", "RFX-Bdelta4", "DNA-binding protein RFXANK"	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.82G>A	19.37:g.19304837G>A	ENSP00000305071:p.Gly28Arg		O95839|Q24JQ1|Q6FGA8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G28R	ENST00000303088.4	37	c.82	CCDS12395.1	19	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267033	0.01433	.	.	ENSG00000064490	ENST00000353145;ENST00000421262;ENST00000456252;ENST00000303088;ENST00000407360;ENST00000543652;ENST00000540981;ENST00000541873;ENST00000392324	T;T;T;T;T;T;T;T	0.40476	1.24;1.03;1.25;1.36;1.26;1.94;1.75;1.24	4.58	-4.15	0.03881	.	1.432230	0.04151	N	0.321315	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.20538	-1.0272	10	0.59425	D	0.04	-0.8589	4.866	0.13609	0.5327:0.0:0.3164:0.1509	.	28;28;28;28	Q6IB23;Q24JQ1;O14593-2;O14593	.;.;.;RFXK_HUMAN	R	28	ENSP00000262804:G28R;ENSP00000393159:G28R;ENSP00000409138:G28R;ENSP00000305071:G28R;ENSP00000384572:G28R;ENSP00000439581:G28R;ENSP00000440325:G28R;ENSP00000376138:G28R	ENSP00000305071:G28R	G	+	1	0	RFXANK	19165837	0.002000	0.14202	0.000000	0.03702	0.055000	0.15305	-0.295000	0.08298	-1.137000	0.02888	0.462000	0.41574	GGA	RFXANK	-	pirsf_DNA-bd_RFXANK	ENSG00000064490		0.602	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	RFXANK	HGNC	protein_coding	OTTHUMT00000402923.2	-	0	43	0	G	NM_003721		19304837	1	tier1	-	no_errors	ENST00000303088	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.000	A	A	19304837	G	A	19304837	3	1	68	1	0	0	0	0	1	0	0	0	13314	1117	39	1	84	1	RFXANK	19	19304837	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	5890198	19304837	39824146	194	18648											
ZNF676	163223	genome.wustl.edu	37	chr19	22375898	22375898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaaatgatcaggtctggcTtaaaggcagcaatacctgtt	14	10	10	7	0	2	1	1	1	1	0	2	2	2	1	1	3	2	4	1	3	6	3	rs377741733		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:22375898T>C	ENST00000397121.2	-	2	367	c.50A>G	c.(49-51)aAg>aGg	p.K17R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGGTCTGGCTTAAAGGCAGC	0.403																																																	0													81	98	92					19																	22375898		1507	2709	4216	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.50A>G	19.37:g.22375898T>C	ENSP00000380310:p.Lys17Arg		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K17R	ENST00000397121.2	37	c.50	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	15.19	2.760516	0.49468	.	.	ENSG00000196109	ENST00000397121	T	0.00902	5.56	0.784	0.784	0.18578	Krueppel-associated box (3);	.	.	.	.	T	0.02571	0.0078	M	0.84219	2.685	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.36040	-0.9764	9	0.66056	D	0.02	.	3.6975	0.08369	0.0:0.0:0.0:1.0	.	17	Q8N7Q3	ZN676_HUMAN	R	17	ENSP00000380310:K17R	ENSP00000380310:K17R	K	-	2	0	ZNF676	22167738	0.003000	0.15002	0.768000	0.31515	0.770000	0.43624	-0.075000	0.11431	0.156000	0.19299	0.155000	0.16302	AAG	ZNF676	-	superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	86	0	T	NM_001001411		22375898	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	37.23	59	35	SNP	0.335	C	C	22375898	T	C	22375898	3	2	68	1	0	0	0	0	1	0	0	0	18131	1609	56	4	1724	4	ZNF676	19	22375898	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	3071061	22375898	36753085	195	18649											
ZNF254	9534	genome.wustl.edu	37	chr19	24309961	24309961	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttagaatgtggcaaagctTttaagcaactctcaactctt	12	13	7	9	0	2	1	1	0	2	1	3	1	2	1	0	1	4	4	0	1	6	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:24309961T>G	ENST00000357002.4	+	4	1274	c.1159T>G	c.(1159-1161)Ttt>Gtt	p.F387V	ZNF254_ENST00000342944.6_Missense_Mutation_p.F302V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	387					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGCAAAGCTTTTAAGCAACT	0.363																																																	0													41	43	42					19																	24309961		2202	4299	6501	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1159T>G	19.37:g.24309961T>G	ENSP00000349494:p.Phe387Val		A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F387V	ENST00000357002.4	37	c.1159	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441608	0.25900	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.46063	0.88;0.88	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69851	0.3157	H	0.96142	3.775	0.31563	N	0.657294	D	0.89917	1.0	D	0.97110	1.0	T	0.68861	-0.5297	9	0.87932	D	0	.	5.9621	0.19305	0.0:0.0:0.0:1.0	.	387	O75437	ZN254_HUMAN	V	302;387	ENSP00000445527:F302V;ENSP00000349494:F387V	ENSP00000445527:F302V	F	+	1	0	ZNF254	24101801	0.997000	0.39634	0.673000	0.29887	0.700000	0.40528	5.443000	0.66581	0.441000	0.26529	0.248000	0.18094	TTT	ZNF254	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213096		0.363	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1		0	35	0	T	NM_004876		24309961	1			no_errors	ENST00000357002	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.992	G	G	24309961	T	G	24309961	3	3	68	1	0	0	0	0	1	0	0	0	17846	1841	64	4	1173	4	ZNF254	19	24309961	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	1934063	24309961	34819022	196	18650											
ZFP30	22835	genome.wustl.edu	37	chr19	38126363	38126363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccacgactgaaagtcttcCcacattccttacaatcataa	14	10	4	13	1	2	1	1	1	1	0	4	2	4	1	3	0	2	0	3	0	4	4	rs145884302	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:38126363C>T	ENST00000351218.2	-	6	1636	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	ZFP30_ENST00000514101.2_Missense_Mutation_p.G360E|ZFP30_ENST00000392144.1_Missense_Mutation_p.G360E|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAGTCTTCCCACATTCCTT	0.433																																																	0													70	70	70					19																	38126363		2203	4300	6503	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"Zinc fingers, C2H2-type", "-"	29555	protein-coding gene	gene with protein product			"zinc finger protein 30 homolog (mouse)"			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1079G>A	19.37:g.38126363C>T	ENSP00000343581:p.Gly360Glu		Q58EY8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G360E	ENST00000351218.2	37	c.1079	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512636	0.64522	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.07114	3.22;3.22;3.22	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35585	N	0.003119	T	0.25082	0.0609	L	0.58428	1.81	0.39772	D	0.972178	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02917	-1.1094	10	0.72032	D	0.01	.	15.355	0.74421	0.0:1.0:0.0:0.0	.	360;360	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	E	360;360;360;275	ENSP00000343581:G360E;ENSP00000422930:G360E;ENSP00000375988:G360E	ENSP00000343581:G360E	G	-	2	0	ZFP30	42818203	0.976000	0.34144	1.000000	0.80357	0.987000	0.75469	2.266000	0.43320	2.223000	0.72356	0.655000	0.94253	GGG	ZFP30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.433	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0	58	0	C	NM_014898		38126363	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	38126363	C	T	38126363	3	4	68	1	0	0	0	0	1	0	0	0	17692	623	22	3	484	3	ZFP30	19	38126363	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	13816402	38126363	21002620	197	18651											
ZNF285	26974	genome.wustl.edu	37	chr19	44890666	44890666	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctgctcatgtagtctttGatgagtcagaaggtcctttc	7	16	9	9	0	4	3	2	2	2	1	7	3	5	3	1	1	1	2	1	1	2	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:44890666G>A	ENST00000330997.4	-	4	1805	c.1741C>T	c.(1741-1743)Caa>Taa	p.Q581*	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q588*|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q581*	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTAGTCTTTGATGAGTCAGA	0.418																																																	0													140	116	124					19																	44890666		2203	4300	6503	SO:0001587	stop_gained	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1741C>T	19.37:g.44890666G>A	ENSP00000333595:p.Gln581*		Q17RJ3|Q6B0A8|Q6ISR5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q581*	ENST00000330997.4	37	c.1741	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.114240	0.94339	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.28	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.1792	0.25763	0.1024:0.1734:0.7242:0.0	.	.	.	.	X	604;581	.	ENSP00000333595:Q581X	Q	-	1	0	ZNF285	49582506	0.093000	0.21703	0.006000	0.13384	0.218000	0.24690	1.723000	0.38053	0.224000	0.20940	0.454000	0.30748	CAA	ZNF285	-	NULL	ENSG00000267508		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0	92	0	G	NM_152354		44890666	-1	tier1	-	no_errors	ENST00000330997	ensembl	human	known	74_37	nonsense	8.82	62	6	SNP	0.114	A	A	44890666	G	A	44890666	4	1	68	1	0	0	0	0	0	1	0	0	17870	1299	45	3	35	3	ZNF285	19	44890666	Nonsense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	6764303	44890666	14238317	198	18652											
ZNF285	26974	genome.wustl.edu	37	chr19	44892266	44892266	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtttttaatcccgtctccTaggagaagaaagagaatttg	12	14	9	6	1	1	3	0	0	1	3	3	5	2	3	2	1	0	1	2	1	5	6	rs200167944		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:44892266T>C	ENST00000330997.4	-	4	207		c.e4-2		CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Splice_Site|ZNF285_ENST00000544719.2_Splice_Site	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCGTCTCCTAGGAGAAGAA	0.413																																																	0													50	54	53					19																	44892266		2173	4283	6456	SO:0001630	splice_region_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.143-2A>G	19.37:g.44892266T>C			Q17RJ3|Q6B0A8|Q6ISR5	Splice_Site	SNP	-	e3-2	ENST00000330997.4	37	c.143-2	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218077	0.22373	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3975	0.38412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF285	49584106	0.507000	0.26146	0.215000	0.23724	0.122000	0.20287	3.134000	0.50538	1.528000	0.49103	0.373000	0.22412	.	ZNF285	-	-	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1		0	10	0	T	NM_152354	Intron	44892266	-1			no_errors	ENST00000330997	ensembl	human	known	74_37	splice_site	30.00	7	3	SNP	0.017	C	C	44892266	T	C	44892266	5	2	68	1	0	0	0	0	0	0	1	0	17870	1536	53	4	1635	4	ZNF285	19	44892266	Splice_Site	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	1600	44892266	14236717	199	18653											
NKPD1	284353	genome.wustl.edu	37	chr19	45655825	45655825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacggtgttgacgatgcGccgcatggacaccacgttgt	7	8	15	11	5	0	1	0	1	0	0	0	3	0	2	2	3	1	4	2	3	0	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:45655825G>A	ENST00000438936.2	-	3	1415	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Missense_Mutation_p.R402C|NKPD1_ENST00000429338.1_Missense_Mutation_p.R402C|NKPD1_ENST00000317951.4_Missense_Mutation_p.R624C			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	402	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TTGACGATGCGCCGCATGGAC	0.697																																																	0													14	15	15					19																	45655825		2052	4181	6233	SO:0001583	missense	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1204C>T	19.37:g.45655825G>A	ENSP00000401739:p.Arg402Cys		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.R624C	ENST00000438936.2	37	c.1870		19	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627774	0.66901	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.43294	0.95;0.95;0.95	5.01	5.01	0.66863	KAP P-loop (1);	0.058107	0.64402	D	0.000003	T	0.60366	0.2263	L	0.55481	1.735	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.62651	-0.6809	10	0.87932	D	0	-29.8932	15.8391	0.78831	0.0:0.0:1.0:0.0	.	402	Q17RQ9	NKPD1_HUMAN	C	624;402;402	ENSP00000321976:R624C;ENSP00000401739:R402C;ENSP00000404706:R402C	ENSP00000321976:R624C	R	-	1	0	NKPD1	50347665	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	1.832000	0.39151	2.603000	0.88011	0.561000	0.74099	CGC	NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.697	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0	60	0	G	NM_198478		45655825	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A	A	45655825	G	A	45655825	3	1	68	1	0	0	0	0	1	0	0	0	10485	1087	38	1	632	1	NKPD1	19	45655825	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	763559	45655825	13473158	200	18654											
SIX5	147912	genome.wustl.edu	37	chr19	46269143	46269143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaagggtgcctagggcGtgagcctctgggagagcagg	9	5	19	8	1	1	3	0	1	1	2	1	4	1	3	2	4	3	2	2	4	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:46269143G>A	ENST00000317578.6	-	3	2217	c.1836C>T	c.(1834-1836)caC>caT	p.H612H	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	612					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGCCTAGGGCGTGAGCCTCTG	0.721																																																	0													9	12	11					19																	46269143		2182	4272	6454	SO:0001819	synonymous_variant	0			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"Homeoboxes / SINE class"	10891	protein-coding gene	gene with protein product		600963	"sine oculis homeobox (Drosophila) homolog 5", "sine oculis homeobox homolog 5 (Drosophila)"	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1836C>T	19.37:g.46269143G>A				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.H612	ENST00000317578.6	37	c.1836	CCDS12673.1	19																																																																																			SIX5	-	NULL	ENSG00000177045		0.721	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	-	0	108	0	G	NM_175875		46269143	-1	tier1	-	no_errors	ENST00000317578	ensembl	human	known	74_37	silent	33.08	88	44	SNP	0.000	A	A	46269143	G	A	46269143	2	1	68	1	0	0	0	0	0	0	0	1	14395	1136	40	1		1	SIX5	19	46269143	Silent	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	613318	46269143	12859840	201	18655											
SAE1	10055	genome.wustl.edu	37	chr19	47653535	47653535	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagggctgaagcctcttTggagcgagctcagaatctca	12	9	11	9	1	3	2	2	1	2	1	4	4	3	3	1	2	3	2	1	2	4	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:47653535T>A	ENST00000270225.7	+	3	355	c.287T>A	c.(286-288)tTg>tAg	p.L96*	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000598840.1_Nonsense_Mutation_p.L96*|SAE1_ENST00000413379.3_Nonsense_Mutation_p.L96*|SAE1_ENST00000392776.3_Nonsense_Mutation_p.L96*	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	96					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GAAGCCTCTTTGGAGCGAGCT	0.448																																																	0													120	121	121					19																	47653535		2203	4300	6503	SO:0001587	stop_gained	0			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.287T>A	19.37:g.47653535T>A	ENSP00000270225:p.Leu96*		B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.L96*	ENST00000270225.7	37	c.287	CCDS12696.1	19	.	.	.	.	.	.	.	.	.	.	T	38	6.798627	0.97845	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4042	0.67071	0.0:0.0:0.0:1.0	.	.	.	.	X	96	.	ENSP00000270225:L96X	L	+	2	0	SAE1	52345375	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.520000	0.81821	2.108000	0.64289	0.533000	0.62120	TTG	SAE1	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000142230		0.448	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1	-	0	85	0	T	NM_005500		47653535	1	tier1	-	no_errors	ENST00000270225	ensembl	human	known	74_37	nonsense	15.94	58	11	SNP	1.000	A	A	47653535	T	A	47653535	4	1	68	1	0	0	0	0	0	1	0	0	13850	1821	63	5	297	5	SAE1	19	47653535	Nonsense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	1384392	47653535	11475448	202	18656											
GLTSCR1	29998	genome.wustl.edu	37	chr19	48197738	48197738	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctccctccatcctccAcctcctctgctgtggcctcc	3	10	4	24	0	1	0	0	0	1	0	7	0	7	0	10	1	1	1	10	1	0	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:48197738A>C	ENST00000396720.3	+	8	2844	c.2650A>C	c.(2650-2652)Acc>Ccc	p.T884P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	884										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TCCATCCTCCACCTCCTCTGC	0.726																																																	0													15	15	15					19																	48197738		1917	4097	6014	SO:0001583	missense	0			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2650A>C	19.37:g.48197738A>C	ENSP00000379946:p.Thr884Pro		A8MW01	Missense_Mutation	SNP	NULL	p.T884P	ENST00000396720.3	37	c.2650	CCDS46134.1	19	.	.	.	.	.	.	.	.	.	.	a	2.191	-0.385362	0.04966	.	.	ENSG00000063169	ENST00000396720	T	0.32272	1.46	2.71	2.71	0.32032	.	.	.	.	.	T	0.19208	0.0461	N	0.19112	0.55	0.09310	N	1	P	0.39809	0.689	B	0.41271	0.352	T	0.09058	-1.0692	9	0.23891	T	0.37	.	6.4235	0.21756	0.8649:0.0:0.1351:0.0	.	884	Q9NZM4	GSCR1_HUMAN	P	884	ENSP00000379946:T884P	ENSP00000379946:T884P	T	+	1	0	GLTSCR1	52889550	0.956000	0.32656	0.893000	0.35052	0.280000	0.26924	1.693000	0.37742	1.214000	0.43395	0.228000	0.17796	ACC	GLTSCR1	-	NULL	ENSG00000063169		0.726	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	-	0	50	0	A	NM_015711		48197738	1	tier1	-	no_errors	ENST00000396720	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.055	C	C	48197738	A	C	48197738	3	2	68	1	0	0	0	0	1	0	0	0	6500	159	6	4	2672	4	GLTSCR1	19	48197738	Missense_Mutation	SNP	A	TCGA-L5-A4OU-01A-11D-A28B-09	544203	48197738	10931245	203	18657											
MED25	81857	genome.wustl.edu	37	chr19	50338429	50338429	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagctggagcagcagcagCgaggagtgagtgttgacagt	12	6	17	6	1	0	3	0	2	0	1	0	6	0	5	0	2	5	5	0	2	1	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:50338429C>T	ENST00000312865.6	+	14	1722	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	MED25_ENST00000538643.1_Nonsense_Mutation_p.R344*	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	557					cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAGCAGCAGCGAGGAGTGAG	0.652																																					GBM(51;894 1657 37868)												0													117	102	107					19																	50338429		2203	4300	6503	SO:0001587	stop_gained	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1669C>T	19.37:g.50338429C>T	ENSP00000326767:p.Arg557*		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Nonsense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.R557*	ENST00000312865.6	37	c.1669	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	c	35	5.461932	0.96240	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000536547	.	.	.	5.42	5.42	0.78866	.	0.199063	0.43416	D	0.000568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.7255	0.69341	0.0:1.0:0.0:0.0	.	.	.	.	X	557;557;557;557;557;344;292;46	.	ENSP00000326767:R557X	R	+	1	2	MED25	55030241	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	2.069000	0.41481	2.552000	0.86080	0.306000	0.20318	CGA	MED25	-	NULL	ENSG00000104973		0.652	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	-	0	55	0	C	NM_030973		50338429	1	tier1	-	no_errors	ENST00000312865	ensembl	human	known	74_37	nonsense	33.82	45	23	SNP	0.999	T	T	50338429	C	T	50338429	4	4	68	1	0	0	0	0	0	1	0	0	9481	760	27	1	1723	1	MED25	19	50338429	Nonsense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	2140691	50338429	8790554	204	18658											
SIGLEC6	946	genome.wustl.edu	37	chr19	52034756	52034756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctccagctggaatctccGctcctgagccagggccccta	6	7	9	19	1	1	1	0	1	1	0	4	2	3	2	8	2	2	2	8	2	2	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:52034756G>A	ENST00000425629.3	-	2	239	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R29W|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R29W|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.R29W|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R29W	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	29	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGGAATCTCCGCTCCTGAGCC	0.657																																																	0													39	44	42					19																	52034756		2163	4279	6442	SO:0001583	missense	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.85C>T	19.37:g.52034756G>A	ENSP00000401502:p.Arg29Trp		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R29W	ENST00000425629.3	37	c.85	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	G	7.471	0.646744	0.14516	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.48836	0.84;1.19;1.38;0.8	2.29	-4.58	0.03410	Immunoglobulin-like fold (1);	22.509600	0.00166	N	0.000005	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.18013	0.005;0.001;0.001;0.001;0.025;0.001	B;B;B;B;B;B	0.16289	0.001;0.002;0.001;0.003;0.015;0.0	T	0.05533	-1.0879	10	0.44086	T	0.13	.	0.9986	0.01473	0.2255:0.3271:0.2827:0.1646	.	29;29;29;29;29;29	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	W	18;29;29;29;29;29	ENSP00000375674:R29W;ENSP00000401502:R29W;ENSP00000353071:R29W;ENSP00000345907:R29W	ENSP00000345907:R29W	R	-	1	2	SIGLEC6	56726568	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.547000	0.00114	-1.470000	0.01888	-0.840000	0.03056	CGG	SIGLEC6	-	NULL	ENSG00000105492		0.657	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	-	0	55	0	G	NM_001245		52034756	-1	tier1	-	no_errors	ENST00000425629	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.000	A	A	52034756	G	A	52034756	3	1	68	1	0	0	0	0	1	0	0	0	14357	1086	38	1	1337	1	SIGLEC6	19	52034756	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	1696327	52034756	7094227	205	18659											
ZNF616	90317	genome.wustl.edu	37	chr19	52619801	52619801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttctctgtagtatgtaTcctctgatgattaataaggc	10	16	9	6	0	2	2	0	2	2	0	4	2	3	2	1	2	0	4	1	2	5	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:52619801T>A	ENST00000600228.1	-	4	877	c.616A>T	c.(616-618)Ata>Tta	p.I206L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTAGTATGTATCCTCTGATGA	0.403																																																	0													150	145	146					19																	52619801		2203	4300	6503	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.616A>T	19.37:g.52619801T>A	ENSP00000471000:p.Ile206Leu		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I206L	ENST00000600228.1	37	c.616	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054693	0.36277	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43700	0.1259	L	0.48986	1.54	0.09310	N	1	P	0.44195	0.828	P	0.53912	0.737	T	0.38802	-0.9644	8	0.59425	D	0.04	.	3.4109	0.07357	0.0:0.2034:0.2208:0.5758	.	206	Q08AN1	ZN616_HUMAN	L	206	.	ENSP00000328722:I206L	I	-	1	0	ZNF616	57311613	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	-0.326000	0.07965	-0.845000	0.04179	0.254000	0.18369	ATA	ZNF616	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204611		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0	67	0	T	XM_030892		52619801	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	missense	14.71	87	15	SNP	0.001	A	A	52619801	T	A	52619801	3	1	68	1	0	0	0	0	1	0	0	0	18089	1435	50	5	1733	5	ZNF616	19	52619801	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	585045	52619801	6509182	206	18660											
ZNF534	147658	genome.wustl.edu	37	chr19	52941308	52941308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagtcttcagagtgtctTcaagccttactaaccgtcaa	12	11	8	10	1	5	1	3	0	2	1	5	2	5	2	2	1	3	0	2	1	5	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:52941308T>C	ENST00000332323.6	+	4	695	c.634T>C	c.(634-636)Tca>Cca	p.S212P	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.S199P	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CAGAGTGTCTTCAAGCCTTAC	0.373																																																	0													108	96	99					19																	52941308		1568	3582	5150	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"Zinc fingers, C2H2-type", "-"	26337	protein-coding gene	gene with protein product			"KRAB domain only 3"	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.634T>C	19.37:g.52941308T>C	ENSP00000327538:p.Ser212Pro		Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S212P	ENST00000332323.6	37	c.634	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122681	0.37436	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.18657	2.2;2.2	1.81	1.81	0.25067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43433	0.1247	M	0.85777	2.775	0.32792	N	0.50107	D;D	0.76494	0.999;0.988	D;P	0.69479	0.964;0.723	T	0.54503	-0.8284	9	0.72032	D	0.01	.	6.0334	0.19692	0.0:0.0:0.2627:0.7373	.	199;212	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	P	212;199;211	ENSP00000327538:S212P;ENSP00000391358:S199P	ENSP00000327538:S212P	S	+	1	0	ZNF534	57633120	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-1.047000	0.03521	0.811000	0.34303	0.377000	0.23210	TCA	ZNF534	-	pfscan_Znf_C2H2	ENSG00000198633		0.373	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	-	0	26	0	T	NM_182512		52941308	1	tier1	-	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.243	C	C	52941308	T	C	52941308	3	2	68	1	0	0	0	0	1	0	0	0	18021	1783	62	4	648	4	ZNF534	19	52941308	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	321507	52941308	6187675	207	18661											
ZNF677	342926	genome.wustl.edu	37	chr19	53741702	53741702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacttccttgaggtcaaaaTtgttgatgccatggctttcc	9	14	9	9	0	1	3	1	2	0	1	3	3	3	3	3	2	1	2	3	2	2	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:53741702T>C	ENST00000598513.1	-	5	428	c.278A>G	c.(277-279)aAt>aGt	p.N93S	ZNF677_ENST00000333952.4_Missense_Mutation_p.N93S|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GAGGTCAAAATTGTTGATGCC	0.363																																																	0													84	79	81					19																	53741702		2203	4299	6502	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.278A>G	19.37:g.53741702T>C	ENSP00000469391:p.Asn93Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N93S	ENST00000598513.1	37	c.278	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	T	5.909	0.351872	0.11182	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07021	3.23	2.2	-3.05	0.05396	.	1.119930	0.07058	N	0.833218	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44513	-0.9323	10	0.13853	T	0.58	.	0.8889	0.01250	0.1678:0.2405:0.3394:0.2523	.	93	Q86XU0	ZN677_HUMAN	S	93	ENSP00000334394:N93S	ENSP00000334394:N93S	N	-	2	0	ZNF677	58433514	0.000000	0.05858	0.008000	0.14137	0.158000	0.22134	0.155000	0.16362	-1.037000	0.03283	-1.039000	0.02377	AAT	ZNF677	-	NULL	ENSG00000197928		0.363	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0	59	0	T	NM_182609		53741702	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.001	C	C	53741702	T	C	53741702	3	2	68	1	0	0	0	0	1	0	0	0	18132	1493	52	4	1480	4	ZNF677	19	53741702	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	800394	53741702	5387281	208	18662											
ZNF677	342926	genome.wustl.edu	37	chr19	53747121	53747121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcctcttgagagaattcTatggccacatccttgaatgt	10	13	7	11	0	2	3	0	2	2	1	4	4	4	3	3	1	0	0	3	1	3	4			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:53747121T>C	ENST00000598513.1	-	4	195	c.45A>G	c.(43-45)atA>atG	p.I15M	ZNF677_ENST00000599012.1_Missense_Mutation_p.I15M|ZNF677_ENST00000601828.1_Missense_Mutation_p.I15M|ZNF677_ENST00000333952.4_Missense_Mutation_p.I15M|ZNF677_ENST00000594681.1_Missense_Mutation_p.I15M|ZNF677_ENST00000601413.1_Missense_Mutation_p.I15M|CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000598806.1_Missense_Mutation_p.I15M	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GAGAGAATTCTATGGCCACAT	0.458																																																	0													90	85	87					19																	53747121		2203	4300	6503	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.45A>G	19.37:g.53747121T>C	ENSP00000469391:p.Ile15Met			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I15M	ENST00000598513.1	37	c.45	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403688	0.42613	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.01871	4.59	2.02	-4.05	0.03998	Krueppel-associated box (4);	0.000000	0.37955	N	0.001862	T	0.07007	0.0178	M	0.76170	2.325	0.22253	N	0.999256	D	0.69078	0.997	D	0.87578	0.998	T	0.04029	-1.0983	10	0.72032	D	0.01	.	4.2062	0.10490	0.2795:0.0:0.428:0.2925	.	15	Q86XU0	ZN677_HUMAN	M	15	ENSP00000334394:I15M	ENSP00000334394:I15M	I	-	3	3	ZNF677	58438933	0.000000	0.05858	0.935000	0.37517	0.995000	0.86356	-1.720000	0.01871	-1.310000	0.02312	0.459000	0.35465	ATA	ZNF677	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197928		0.458	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0	70	0	T	NM_182609		53747121	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.864	C	C	53747121	T	C	53747121	3	2	68	1	0	0	0	0	1	0	0	0	18132	1512	53	4	1717	4	ZNF677	19	53747121	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	5419	53747121	5381862	209	18663											
NLRP11	204801	genome.wustl.edu	37	chr19	56329312	56329312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacaaagatcttccttacGcatcattgaaaatatgctga	14	12	5	10	1	2	3	1	2	1	1	3	3	3	3	2	0	3	2	2	0	6	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:56329312G>A	ENST00000589093.1	-	2	322	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.R77C|NLRP11_ENST00000360133.3_Missense_Mutation_p.R77C|NLRP11_ENST00000443188.1_Missense_Mutation_p.R77C			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.R77C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTTCCTTACGCATCATTGAA	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											129	117	121					19																	56329312		2203	4300	6503	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.229C>T	19.37:g.56329312G>A	ENSP00000466285:p.Arg77Cys		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R77C	ENST00000589093.1	37	c.229	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911594	0.33721	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.58652	0.32;0.32	2.84	-5.68	0.02436	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.54791	0.1880	L	0.36672	1.1	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.51148	-0.8742	9	0.72032	D	0.01	.	1.4182	0.02306	0.1187:0.2578:0.2669:0.3566	.	77	P59045	NAL11_HUMAN	C	77	ENSP00000409898:R77C;ENSP00000353251:R77C	ENSP00000353251:R77C	R	-	1	0	NLRP11	61021124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.161000	0.03144	-1.531000	0.01749	-0.219000	0.12488	CGT	NLRP11	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000179873		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	-	0	46	0	G	NM_145007		56329312	-1	tier1	-	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.000	A	A	56329312	G	A	56329312	3	1	68	1	0	0	0	0	1	0	0	0	10512	1087	38	1	2908	1	NLRP11	19	56329312	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	2582191	56329312	2799671	210	18664											
PCSK2	5126	genome.wustl.edu	37	chr20	17389929	17389929	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccgaagcaagttacgacTtcagcagcaacgacccctat	13	7	8	13	3	1	0	1	0	0	0	1	3	1	0	3	0	6	4	3	0	5	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:17389929T>G	ENST00000262545.2	+	6	880	c.565T>G	c.(565-567)Ttc>Gtc	p.F189V	PCSK2_ENST00000536609.1_Missense_Mutation_p.F154V|PCSK2_ENST00000377899.1_Missense_Mutation_p.F170V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	189	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	AAGTTACGACTTCAGCAGCAA	0.493																																																	0													196	168	178					20																	17389929		2203	4300	6503	SO:0001583	missense	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.565T>G	20.37:g.17389929T>G	ENSP00000262545:p.Phe189Val		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.F189V	ENST00000262545.2	37	c.565	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902818	0.52227	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88431	-2.38;-2.38;-2.38	5.91	5.91	0.95273	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.042860	0.85682	D	0.000000	D	0.91912	0.7439	M	0.63208	1.945	0.80722	D	1	D;B	0.56287	0.975;0.015	P;B	0.61874	0.895;0.062	D	0.90273	0.4309	10	0.28530	T	0.3	-31.8092	12.7401	0.57246	0.0:0.0:0.0:1.0	.	154;189	B4DFQ3;P16519	.;NEC2_HUMAN	V	170;189;154	ENSP00000367131:F170V;ENSP00000262545:F189V;ENSP00000437458:F154V	ENSP00000262545:F189V	F	+	1	0	PCSK2	17337929	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.620000	0.83070	2.254000	0.74563	0.533000	0.62120	TTC	PCSK2	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000125851		0.493	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	-	0	90	0	T	NM_002594		17389929	1	tier1	-	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	17.59	89	19	SNP	1.000	G	G	17389929	T	G	17389929	3	3	68	1	0	0	0	0	1	0	0	0	11640	1609	56	4	587	4	PCSK2	20	17389929	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09		17389929	45635591	211	18665											
MATN4	8785	genome.wustl.edu	37	chr20	43927056	43927056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagagggaactcggtgcGcacgcggctcgagaactgca	10	4	14	13	5	0	2	0	0	0	2	2	4	0	3	1	3	4	3	1	3	2	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:43927056G>T	ENST00000372754.1	-	7	1311	c.1303C>A	c.(1303-1305)Cgc>Agc	p.R435S	MATN4_ENST00000372751.4_Missense_Mutation_p.R245S|MATN4_ENST00000372756.1_Missense_Mutation_p.R394S|MATN4_ENST00000537548.1_Missense_Mutation_p.R394S|MATN4_ENST00000353917.5_Missense_Mutation_p.R312S|MATN4_ENST00000342716.4_Missense_Mutation_p.R394S|MATN4_ENST00000360607.6_Missense_Mutation_p.R353S			O95460	MATN4_HUMAN	matrilin 4	435	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.R394C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AACTCGGTGCGCACGCGGCTC	0.652																																																	1	Substitution - Missense(1)	lung(1)											53	47	49					20																	43927056		2203	4299	6502	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1303C>A	20.37:g.43927056G>T	ENSP00000361840:p.Arg435Ser		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.R435S	ENST00000372754.1	37	c.1303		20	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690194	0.88735	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.45	5.45	0.79879	.	0.000000	0.44902	D	0.000411	D	0.90926	0.7148	M	0.76170	2.325	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90622	0.4560	10	0.48119	T	0.1	.	18.3404	0.90303	0.0:0.0:1.0:0.0	.	312;353;394	A6NNA4;O95460-4;O95460-2	.;.;.	S	245;435;394;312;353;394;394;435;245	ENSP00000361839:R245S;ENSP00000361840:R435S;ENSP00000361842:R394S;ENSP00000243983:R312S;ENSP00000353819:R353S;ENSP00000343164:R394S;ENSP00000440328:R394S;ENSP00000361837:R245S	ENSP00000255132:R435S	R	-	1	0	MATN4	43360470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.278000	0.58946	2.562000	0.86427	0.650000	0.86243	CGC	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.652	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	-	0	53	0	G			43927056	-1	tier1	-	no_errors	ENST00000372754	ensembl	human	known	74_37	missense	35.00	39	21	SNP	1.000	T	T	43927056	G	T	43927056	3	4	68	1	0	0	0	0	1	0	0	0	9374	1087	38	2	581	2	MATN4	20	43927056	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	26537127	43927056	19098464	212	18666											
TSHZ2	128553	genome.wustl.edu	37	chr20	51871026	51871026	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggatcttttgcagattcTttttcttctcagaagaacgc	10	15	7	9	1	4	3	1	0	4	3	5	4	4	4	0	1	2	1	0	1	2	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:51871026T>G	ENST00000371497.5	+	2	1916	c.1029T>G	c.(1027-1029)tcT>tcG	p.S343S	TSHZ2_ENST00000603338.2_Silent_p.S340S|TSHZ2_ENST00000329613.6_Silent_p.S340S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	343					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTGCAGATTCTTTTTCTTCTC	0.493																																																	0													78	86	83					20																	51871026		2203	4300	6503	SO:0001819	synonymous_variant	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1029T>G	20.37:g.51871026T>G			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S343	ENST00000371497.5	37	c.1029	CCDS33490.1	20																																																																																			TSHZ2	-	NULL	ENSG00000182463		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	-	0	49	0	T	NM_173485		51871026	1	tier1	-	no_errors	ENST00000371497	ensembl	human	known	74_37	silent	13.73	44	7	SNP	0.016	G	G	51871026	T	G	51871026	2	3	68	1	0	0	0	0	0	0	0	1	16672	1596	56	4		4	TSHZ2	20	51871026	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	7943970	51871026	11154494	213	18667											
VAPB	9217	genome.wustl.edu	37	chr20	57009727	57009727	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttatggttcagtctatgtTtgctccaactgacacttcag	8	16	8	9	0	3	1	2	1	1	0	4	1	4	1	1	1	2	4	1	1	3	6			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:57009727T>G	ENST00000475243.1	+	3	619	c.281T>G	c.(280-282)tTt>tGt	p.F94C	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	94	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CAGTCTATGTTTGCTCCAACT	0.323																																																	0													147	134	138					20																	57009727		2203	4300	6503	SO:0001583	missense	0			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.281T>G	20.37:g.57009727T>G	ENSP00000417175:p.Phe94Cys		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	p.F94C	ENST00000475243.1	37	c.281	CCDS33498.1	20	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637969	0.67130	.	.	ENSG00000124164	ENST00000475243	T	0.71934	-0.61	5.55	5.55	0.83447	PapD-like (2);	0.182912	0.52532	D	0.000076	D	0.83298	0.5224	M	0.89214	3.015	0.80722	D	1	D	0.69078	0.997	P	0.56163	0.793	D	0.85729	0.1330	10	0.46703	T	0.11	-17.7729	15.71	0.77620	0.0:0.0:0.0:1.0	.	94	O95292	VAPB_HUMAN	C	94	ENSP00000417175:F94C	ENSP00000417175:F94C	F	+	2	0	VAPB	56443133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.105000	0.64084	0.533000	0.62120	TTT	VAPB	-	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	ENSG00000124164		0.323	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2	-	0	65	0	T			57009727	1	tier1	-	no_errors	ENST00000475243	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	G	G	57009727	T	G	57009727	3	3	68	1	0	0	0	0	1	0	0	0	17171	1841	64	4	291	4	VAPB	20	57009727	Missense_Mutation	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	5138701	57009727	6015793	214	18668											
GNAS	2778	genome.wustl.edu	37	chr20	57429277	57429277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcccccgctggggtcgaCgacactcccgtcaacatgga	8	5	12	16	5	1	0	1	0	0	0	3	3	2	1	3	3	2	1	3	3	1	0			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:57429277C>T	ENST00000306120.3	+	1	767	c.767C>T	c.(766-768)aCg>aTg	p.T256M	GNAS_ENST00000371100.4_Silent_p.D319D|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Silent_p.D319D|GNAS_ENST00000371102.4_Silent_p.D319D			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTGGGGTCGACGACACTCCCG	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													19	24	23					20																	57429277		1901	4102	6003	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.767C>T	20.37:g.57429277C>T	ENSP00000302237:p.Thr256Met		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.T256M	ENST00000306120.3	37	c.767		20	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004042	0.54254	.	.	ENSG00000087460	ENST00000306120	.	.	.	3.76	2.82	0.32997	.	.	.	.	.	T	0.57533	0.2060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56135	-0.8029	5	0.46703	T	0.11	.	6.144	0.20275	0.0:0.7698:0.0:0.2302	.	.	.	.	M	256	.	ENSP00000302237:T256M	T	+	2	0	GNAS	56862672	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.599000	0.36751	1.169000	0.42739	0.462000	0.41574	ACG	GNAS	-	NULL	ENSG00000087460		0.642	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267987.1		0	17	0	C	NM_000516		57429277	1			no_errors	ENST00000306120	ensembl	human	putative	74_37	missense	30.00	14	6	SNP	1.000	T	T	57429277	C	T	57429277	3	4	68	1	0	0	0	0	1	0	0	0	6536	536	19	1	1701	1	GNAS	20	57429277	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	419550	57429277	5596243	215	18669											
ERG	2078	genome.wustl.edu	37	chr21	39755716	39755716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttccgctctccccagCgccgggccacctcgtcggga	3	8	11	19	5	2	0	0	0	2	0	6	1	3	1	6	2	2	2	6	2	0	1			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr21:39755716C>T	ENST00000417133.2	-	12	1255	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	ERG_ENST00000398905.1_Missense_Mutation_p.R326H|ERG_ENST00000398919.2_Missense_Mutation_p.R357H|ERG_ENST00000442448.1_Missense_Mutation_p.R333H|ERG_ENST00000398911.1_Missense_Mutation_p.R333H|ERG_ENST00000288319.7_Missense_Mutation_p.R350H|ERG_ENST00000398897.1_Missense_Mutation_p.R234H|ERG_ENST00000453032.2_Missense_Mutation_p.R258H|ERG_ENST00000398907.1_Missense_Mutation_p.R327H|ERG_ENST00000398910.1_Missense_Mutation_p.R334H	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTCTCCCCAGCGCCGGGCCAC	0.587			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"M, E, L"	0													95	84	88					21																	39755716		2203	4300	6503	SO:0001583	missense	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"v-ets avian erythroblastosis virus E26 oncogene related", "transcriptional regulator ERG (transforming protein ERG)", "v-ets erythroblastosis virus E26 oncogene like", "TMPRSS2-ERG prostate cancer specific"	165080	"v-ets avian erythroblastosis virus E26 oncogene related"			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1070G>A	21.37:g.39755716C>T	ENSP00000414150:p.Arg357His		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R357H	ENST00000417133.2	37	c.1070	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	C	31	5.096564	0.94197	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.992	T	0.82133	-0.0608	10	0.87932	D	0	.	18.7596	0.91845	0.0:1.0:0.0:0.0	.	357;326;333;350	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	H	326;327;350;234;333;357;334;333;258;357	ENSP00000381877:R326H;ENSP00000381879:R327H;ENSP00000288319:R350H;ENSP00000381871:R234H;ENSP00000381882:R333H;ENSP00000414150:R357H;ENSP00000381881:R334H;ENSP00000394694:R333H;ENSP00000396268:R258H;ENSP00000381891:R357H	ENSP00000288319:R350H	R	-	2	0	ERG	38677586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.404000	0.81709	0.655000	0.94253	CGC	ERG	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000157554		0.587	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2		0	47	0	C	NM_182918		39755716	-1			no_errors	ENST00000398919	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	39755716	C	T	39755716	3	4	68	1	0	0	0	0	1	0	0	0	5238	768	27	1	394	1	ERG	21	39755716	Missense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09		39755716	8374179	216	18670											
PATZ1	23598	genome.wustl.edu	37	chr22	31723129	31723131	+	In_Frame_Del	DEL	CTT	CTT	-																															ccacattcagggcatgggtaCttcttctccccatcagactc																										TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:31723129_31723131delCTT	ENST00000266269.5	-	5	2439_2441	c.1810_1812delAAG	c.(1810-1812)aagdel	p.K604del	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_In_Frame_Del_p.K558del	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	604					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGCATGGGTACTTCTTCTCCCCA	0.562																																																	0																																										SO:0001651	inframe_deletion	0			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1810_1812delAAG	22.37:g.31723132_31723134delCTT	ENSP00000266269:p.Lys604del		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K604in_frame_del	ENST00000266269.5	37	c.1812_1810	CCDS13894.1	22																																																																																			PATZ1	-	NULL	ENSG00000100105		0.562	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1		0	33	0	CTT	NM_032052		31723131	-1	tier1		no_errors	ENST00000266269	ensembl	human	known	74_37	in_frame_del	14.81	23	4	DEL	1.000:1.000:1.000	-	-	31723131	CTT	-	31723129	7	5	68	1	0	1	0	1	0	0	0	0	11515	564	20	0	255	0	PATZ1	22	31723129	In_Frame_Del	DEL	CTT	TCGA-L5-A4OU-01A-11D-A28B-09		31723129	19581437	217	18671											
FOXRED2	80020	genome.wustl.edu	37	chr22	36886088	36886088	+	Frame_Shift_Del	DEL	A	A	-																															ttgttgctatcgacggactgAgccagaggccctggagccag																										TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:36886088delA	ENST00000397224.4	-	9	2115	c.2022delT	c.(2020-2022)gctfs	p.A674fs	FOXRED2_ENST00000366463.3_Frame_Shift_Del_p.A226fs|FOXRED2_ENST00000397223.4_Frame_Shift_Del_p.A674fs|FOXRED2_ENST00000216187.6_Frame_Shift_Del_p.A674fs	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	674					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGACGGACTGAGCCAGAGGCC	0.642																																																	0													32	34	34					22																	36886088		2203	4300	6503	SO:0001589	frameshift_variant	0			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.2022delT	22.37:g.36886088delA	ENSP00000380401:p.Ala674fs		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Frame_Shift_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.Q675fs	ENST00000397224.4	37	c.2022	CCDS13929.1	22																																																																																			FOXRED2	-	NULL	ENSG00000100350		0.642	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2		0	134	0	A	NM_024955		36886088	-1	tier1		no_errors	ENST00000216187	ensembl	human	known	74_37	frame_shift_del	19.67	98	24	DEL	0.000	-	-	36886088	A	-	36886088	7	5	68	1	0	1	0	1	0	0	0	0	6058	291	11	0	36	0	FOXRED2	22	36886088	Frame_Shift_Del	DEL	A	TCGA-L5-A4OU-01A-11D-A28B-09	5162959	36886088	14418478	218	18672											
NLGN4X	57502	genome.wustl.edu	37	chrX	5821829	5821829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtctgccaatatccgaGtgtacttggccggctggtag	6	12	12	11	2	1	0	0	0	1	0	2	1	2	0	4	3	2	3	4	3	4	5			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:5821829G>A	ENST00000381095.3	-	5	1517	c.890C>T	c.(889-891)aCt>aTt	p.T297I	NLGN4X_ENST00000381093.2_Missense_Mutation_p.T317I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T297I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T297I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T297I	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	297					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CAATATCCGAGTGTACTTGGC	0.562																																																	0													112	82	92					X																	5821829		2203	4298	6501	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"neuroligin 4"	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.890C>T	X.37:g.5821829G>A	ENSP00000370485:p.Thr297Ile		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.T317I	ENST00000381095.3	37	c.950	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076263	0.76415	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.74816	0.3766	M	0.78223	2.4	0.80722	D	1	D;D;D	0.71674	0.994;0.997;0.998	D;D;D	0.80764	0.926;0.99;0.994	T	0.77550	-0.2546	8	.	.	.	.	14.4947	0.67678	0.0:0.0:1.0:0.0	.	354;297;317	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	I	297;317;297;297;297	ENSP00000370485:T297I;ENSP00000370483:T317I;ENSP00000275857:T297I;ENSP00000370482:T297I;ENSP00000439203:T297I	.	T	-	2	0	NLGN4X	5831829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.442000	0.90317	1.579000	0.49836	0.600000	0.82982	ACT	NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.562	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	-	0	60	0	G	NM_020742		5821829	-1	tier1	-	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	51.06	23	24	SNP	1.000	A	A	5821829	G	A	5821829	3	1	68	1	0	0	0	0	1	0	0	0	10503	1029	36	3	1568	3	NLGN4X	23	5821829	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09		5821829	149448731	219	18673											
GAGE10	643832	genome.wustl.edu	37	chrX	49161348	49161348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtgaaatatgagttggCgaggaagatcgacctatcgg	12	9	14	6	3	0	3	0	2	0	1	2	6	0	4	1	3	0	1	1	3	4	3			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:49161348C>T	ENST00000407599.3	+	2	103	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	4										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					TATGAGTTGGCGAGGAAGATC	0.453																																																	0													197	199	198					X																	49161348		2203	4300	6503	SO:0001587	stop_gained	0					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.10C>T	X.37:g.49161348C>T	ENSP00000385415:p.Arg4*			Nonsense_Mutation	SNP	pfam_GAGE	p.R4*	ENST00000407599.3	37	c.10	CCDS43938.1	X	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089421	0.36855	.	.	ENSG00000215274	ENST00000407599	.	.	.	1.2	-2.41	0.06562	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2483	0.01977	0.1988:0.4176:0.1981:0.1855	.	.	.	.	X	4	.	ENSP00000385415:R4X	R	+	1	2	GAGE10	49048292	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.978000	0.03778	-2.160000	0.00786	-0.810000	0.03169	CGA	GAGE10	-	pfam_GAGE	ENSG00000215274		0.453	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	GAGE10	HGNC	protein_coding	OTTHUMT00000060816.1	-	0	251	0	C	NM_001098413		49161348	1	tier1	-	no_errors	ENST00000407599	ensembl	human	known	74_37	nonsense	27.27	160	60	SNP	0.000	T	T	49161348	C	T	49161348	4	4	68	1	0	0	0	0	0	1	0	0	6211	760	27	1	12	1	GAGE10	23	49161348	Nonsense_Mutation	SNP	C	TCGA-L5-A4OU-01A-11D-A28B-09	43339519	49161348	106109212	220	18674											
RAP2C	57826	genome.wustl.edu	37	chrX	131348424	131348424	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctactaggattagtgggacTttttcatatctcttcactct	8	17	6	10	0	4	0	2	0	2	0	5	2	4	2	1	2	1	0	1	2	4	7			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:131348424T>C	ENST00000342983.2	-	3	1070	c.324A>G	c.(322-324)aaA>aaG	p.K108K	RAP2C_ENST00000370874.1_Silent_p.K108K|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	108					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTAGTGGGACTTTTTCATATC	0.388																																																	0													89	70	77					X																	131348424		2203	4300	6503	SO:0001819	synonymous_variant	0			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.324A>G	X.37:g.131348424T>C			B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K108	ENST00000342983.2	37	c.324	CCDS14632.1	X																																																																																			RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123728		0.388	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	-	0	35	0	T	NM_021183		131348424	-1	tier1	-	no_errors	ENST00000342983	ensembl	human	known	74_37	silent	23.26	33	10	SNP	1.000	C	C	131348424	T	C	131348424	2	2	68	1	0	0	0	0	0	0	0	1	13087	1606	56	4		4	RAP2C	23	131348424	Silent	SNP	T	TCGA-L5-A4OU-01A-11D-A28B-09	82187076	131348424	23922136	221	18675											
SLC10A3	8273	genome.wustl.edu	37	chrX	153716993	153716993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccaggcgccgtcctgttgGcctggcctgggtactggctg	2	9	17	13	2	0	0	0	0	0	0	1	0	1	0	5	6	1	3	5	6	1	2			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:153716993G>T	ENST00000393587.4	-	3	550	c.287C>A	c.(286-288)gCc>gAc	p.A96D	UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.A151D|SLC10A3_ENST00000369649.4_Missense_Mutation_p.A96D|SLC10A3_ENST00000263512.4_Missense_Mutation_p.A96D|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	96					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTCCTGTTGGCCTGGCCTGG	0.597																																																	0													124	103	110					X																	153716993		2203	4300	6503	SO:0001583	missense	0			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"Solute carriers"	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.287C>A	X.37:g.153716993G>T	ENSP00000377212:p.Ala96Asp		Q5HY79|Q9BSL2	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.A96D	ENST00000393587.4	37	c.287	CCDS14755.1	X	.	.	.	.	.	.	.	.	.	.	G	1.345	-0.592975	0.03771	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.08807	3.05;3.06;3.1;3.1	4.62	2.67	0.31697	.	1.739860	0.03727	U	0.252829	T	0.08179	0.0204	L	0.44542	1.39	0.24165	N	0.995646	B;B	0.20671	0.047;0.047	B;B	0.19148	0.024;0.024	T	0.41197	-0.9522	10	0.15499	T	0.54	.	4.0137	0.09634	0.0:0.2866:0.4217:0.2917	.	96;96	Q9BSL2;P09131	.;P3_HUMAN	D	96;151;96;96;96	ENSP00000358663:A96D;ENSP00000377211:A151D;ENSP00000263512:A96D;ENSP00000377212:A96D	ENSP00000263512:A96D	A	-	2	0	SLC10A3	153370187	0.093000	0.21703	0.136000	0.22124	0.342000	0.28953	0.284000	0.18864	0.954000	0.37851	0.529000	0.55759	GCC	SLC10A3	-	NULL	ENSG00000126903		0.597	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	-	0	62	0	G	NM_019848		153716993	-1	tier1	-	no_errors	ENST00000263512	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.629	T	T	153716993	G	T	153716993	3	4	68	1	0	0	0	0	1	0	0	0	14420	1203	42	3	1150	3	SLC10A3	23	153716993	Missense_Mutation	SNP	G	TCGA-L5-A4OU-01A-11D-A28B-09	22368569	153716993	1553567	222	18676											
NOL9	79707	genome.wustl.edu	37	chr1	6592771	6592771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcggaactgaaccacgtgGctgggagacagcaatcggat	12	5	15	9	3	0	2	0	1	0	1	1	6	0	4	1	4	4	2	1	4	3	0	rs146362012		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:6592771G>T	ENST00000377705.5	-	8	1319	c.1287C>A	c.(1285-1287)agC>agA	p.S429R		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	429					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GAACCACGTGGCTGGGAGACA	0.502																																																	0													108	96	100					1																	6592771		2203	4300	6503	SO:0001583	missense	0			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"polynucleotide 5'-kinase"					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1287C>A	1.37:g.6592771G>T	ENSP00000366934:p.Ser429Arg		Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.S429R	ENST00000377705.5	37	c.1287	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533093	0.64972	.	.	ENSG00000162408	ENST00000377705	T	0.48201	0.82	5.95	1.17	0.20885	Pre-mRNA cleavage complex II Clp1 (1);	0.345449	0.31673	N	0.007259	T	0.54806	0.1881	L	0.60455	1.87	0.30420	N	0.778219	D	0.71674	0.998	D	0.70487	0.969	T	0.52094	-0.8621	10	0.54805	T	0.06	-25.2379	4.0075	0.09608	0.3764:0.169:0.4547:0.0	.	429	Q5SY16	NOL9_HUMAN	R	429	ENSP00000366934:S429R	ENSP00000366934:S429R	S	-	3	2	NOL9	6515358	0.997000	0.39634	0.995000	0.50966	0.622000	0.37654	0.407000	0.21049	0.826000	0.34661	0.491000	0.48974	AGC	NOL9	-	pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	ENSG00000162408		0.502	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1		0	42	0	G	NM_024654		6592771	-1			no_errors	ENST00000377705	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.998	T	T	6592771	G	T	6592771	3	4	69	1	0	0	0	0	1	0	0	0	10567	1194	42	3	841	3	NOL9	1	6592771	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09		6592771	242657850	1	18677											
SLC45A1	50651	genome.wustl.edu	37	chr1	8398028	8398028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggcatgtgtatctacGccttcagtgctgccttctac	5	13	11	12	1	3	0	1	0	2	0	3	0	3	0	2	2	4	4	2	2	3	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:8398028G>A	ENST00000471889.1	+	7	2135	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A618T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A584T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	584					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTATCTACGCCTTCAGTGC	0.602																																																	0													99	91	93					1																	8398028		2203	4300	6503	SO:0001583	missense	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1750G>A	1.37:g.8398028G>A	ENSP00000418096:p.Ala584Thr		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.A618T	ENST00000471889.1	37	c.1852	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171765	0.57584	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.81499	-1.5;-1.5;-1.5	4.83	3.91	0.45181	Major facilitator superfamily domain, general substrate transporter (1);	0.161379	0.53938	N	0.000042	T	0.74824	0.3767	L	0.45470	1.425	0.58432	D	0.999999	B	0.21452	0.056	B	0.13407	0.009	T	0.72097	-0.4393	10	0.66056	D	0.02	-31.899	13.5351	0.61643	0.0:0.0:0.8429:0.1571	.	584	Q9Y2W3	S45A1_HUMAN	T	584;618;584	ENSP00000418096:A584T;ENSP00000366699:A618T;ENSP00000289877:A584T	ENSP00000289877:A584T	A	+	1	0	SLC45A1	8320615	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	9.380000	0.97202	0.976000	0.38417	0.655000	0.94253	GCC	SLC45A1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000162426		0.602	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	-	0	43	0	G			8398028	1	tier1	-	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	16.39	51	10	SNP	1.000	A	A	8398028	G	A	8398028	3	1	69	1	0	0	0	0	1	0	0	0	14685	1087	38	1	1772	1	SLC45A1	1	8398028	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1805257	8398028	240852593	2	18678											
PTCHD2	57540	genome.wustl.edu	37	chr1	11562884	11562884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcagtagatgaccgctggGaggaacaacgggctaagttt	12	8	13	8	2	1	2	1	1	0	1	1	4	1	4	1	3	2	4	1	3	4	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:11562884G>A	ENST00000294484.6	+	3	1384	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PTCHD2_ENST00000389575.3_Missense_Mutation_p.E416K	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	416					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGACCGCTGGGAGGAACAACG	0.567																																																	0													92	94	93					1																	11562884		2002	4177	6179	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1246G>A	1.37:g.11562884G>A	ENSP00000294484:p.Glu416Lys		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.E416K	ENST00000294484.6	37	c.1246	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864728	0.71949	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.86030	-2.06;-2.06	6.08	6.08	0.98989	.	0.376195	0.29185	N	0.012886	D	0.82912	0.5140	L	0.36672	1.1	0.40640	D	0.981937	P	0.43938	0.822	P	0.45794	0.493	T	0.78889	-0.2026	10	0.16420	T	0.52	-34.0868	19.2272	0.93822	0.0:0.0:1.0:0.0	.	416	Q9P2K9	PTHD2_HUMAN	K	416	ENSP00000294484:E416K;ENSP00000374226:E416K	ENSP00000294484:E416K	E	+	1	0	PTCHD2	11485471	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.420000	0.52735	2.894000	0.99253	0.655000	0.94253	GAG	PTCHD2	-	pfam_Patched	ENSG00000204624		0.567	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	67	0	G	XM_052561		11562884	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	13.79	50	8	SNP	1.000	A	A	11562884	G	A	11562884	3	1	69	1	0	0	0	0	1	0	0	0	12775	1175	41	3	1252	3	PTCHD2	1	11562884	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3164856	11562884	237687737	3	18679											
HP1BP3	50809	genome.wustl.edu	37	chr1	21076257	21076257	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggtgattctctaggacaTacttcttcagagcagtggta	9	13	11	8	0	3	2	1	1	2	1	4	3	3	3	0	3	2	2	0	3	3	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:21076257T>A	ENST00000312239.5	-	10	1239	c.1100A>T	c.(1099-1101)tAt>tTt	p.Y367F	HP1BP3_ENST00000375003.2_Missense_Mutation_p.Y215F	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	367	H15 3. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTCTAGGACATACTTCTTCAG	0.428																																																	0													124	119	121					1																	21076257		2203	4300	6503	SO:0001583	missense	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1100A>T	1.37:g.21076257T>A	ENSP00000312625:p.Tyr367Phe		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.Y367F	ENST00000312239.5	37	c.1100	CCDS30621.1	1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.835912	0.71373	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948	T;T;T	0.27720	1.65;1.65;1.65	5.85	5.85	0.93711	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.108369	0.64402	D	0.000003	T	0.46210	0.1381	L	0.37697	1.125	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	T	0.26950	-1.0088	10	0.36615	T	0.2	-7.3698	16.2473	0.82450	0.0:0.0:0.0:1.0	.	367	Q5SSJ5	HP1B3_HUMAN	F	367;329;215;226	ENSP00000312625:Y367F;ENSP00000364142:Y215F;ENSP00000391721:Y226F	ENSP00000312625:Y367F	Y	-	2	0	HP1BP3	20948844	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.660000	0.54496	2.238000	0.73509	0.533000	0.62120	TAT	HP1BP3	-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	ENSG00000127483		0.428	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	-	0	35	0	T	NM_016287		21076257	-1	tier1	-	no_errors	ENST00000312239	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	21076257	T	A	21076257	3	1	69	1	0	0	0	0	1	0	0	0	7355	1406	49	5	577	5	HP1BP3	1	21076257	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	9513373	21076257	228174364	4	18680											
IFI6	2537	genome.wustl.edu	37	chr1	27994770	27994770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccactagccccccggCgggcacgccgcccccattca	5	4	11	21	5	1	0	1	0	0	0	1	0	1	0	7	3	1	1	7	3	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:27994770C>T	ENST00000361157.6	-	4	392	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	IFI6_ENST00000362020.4_Missense_Mutation_p.A93T|IFI6_ENST00000339145.4_Missense_Mutation_p.A97T|RP11-288L9.4_ENST00000430683.1_RNA	NM_002038.3|NM_022872.2|NM_022873.2	NP_002029.3|NP_075010.1|NP_075011.1	P09912	IFI6_HUMAN	interferon, alpha-inducible protein 6	89					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of mitochondrial depolarization (GO:0051902)|release of cytochrome c from mitochondria (GO:0001836)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCCCCGGCGGGCACGCCG	0.667																																																	0													5	6	6					1																	27994770		2046	4041	6087	SO:0001583	missense	0			BC015603	CCDS306.1, CCDS307.1, CCDS308.1	1p35	2008-02-05	2006-04-21	2006-04-21	ENSG00000126709	ENSG00000126709			4054	protein-coding gene	gene with protein product		147572	"interferon, alpha-inducible protein (clone IFI-6-16)"	G1P3			Standard	NM_002038		Approved	IFI616, FAM14C, 6-16, IFI-6-16	uc001bon.1	P09912	OTTHUMG00000003518	ENST00000361157.6:c.265G>A	1.37:g.27994770C>T	ENSP00000354736:p.Ala89Thr		Q13141|Q13142|Q5VVR2|Q5VVR3|Q6IE95|Q969M8	Missense_Mutation	SNP	pfam_IFI6/IFI27	p.A97T	ENST00000361157.6	37	c.289	CCDS306.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027354	0.75390	.	.	ENSG00000126709	ENST00000361157;ENST00000339145;ENST00000362020	T;T;T	0.42513	0.97;0.97;0.97	3.59	3.59	0.41128	.	0.192052	0.45126	D	0.000382	T	0.62962	0.2471	M	0.79693	2.465	0.36933	D	0.891976	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.935;0.998;0.921	T	0.71520	-0.4568	10	0.56958	D	0.05	.	10.8944	0.47015	0.0:1.0:0.0:0.0	.	93;89;97	Q5VVR2;P09912;P09912-3	.;IFI6_HUMAN;.	T	89;97;93	ENSP00000354736:A89T;ENSP00000342513:A97T;ENSP00000355152:A93T	ENSP00000342513:A97T	A	-	1	0	IFI6	27867357	0.011000	0.17503	0.042000	0.18584	0.066000	0.16364	0.694000	0.25512	2.015000	0.59207	0.655000	0.94253	GCC	IFI6	-	pfam_IFI6/IFI27	ENSG00000126709		0.667	IFI6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFI6	HGNC	protein_coding	OTTHUMT00000009780.1		0	8	0	C	NM_022873		27994770	-1			no_errors	ENST00000339145	ensembl	human	known	74_37	missense	75.00	1	3	SNP	0.577	T	T	27994770	C	T	27994770	3	4	69	1	0	0	0	0	1	0	0	0	7546	768	27	1	135	1	IFI6	1	27994770	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	6918513	27994770	221255851	5	18681											
HIVEP3	59269	genome.wustl.edu	37	chr1	42049977	42049977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgggaaggacgaggcacGaagactttggggactccagg	11	5	16	9	2	0	1	0	0	0	1	1	6	1	4	2	6	0	1	2	6	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:42049977G>A	ENST00000372583.1	-	4	1377	c.492C>T	c.(490-492)ttC>ttT	p.F164F	HIVEP3_ENST00000372584.1_Silent_p.F164F|HIVEP3_ENST00000247584.5_Silent_p.F164F|HIVEP3_ENST00000429157.2_Silent_p.F164F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	164					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F164F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACGAGGCACGAAGACTTTGG	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)											90	96	94					1																	42049977		2203	4300	6503	SO:0001819	synonymous_variant	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"Zinc fingers, C2H2-type"	13561	protein-coding gene	gene with protein product	"kappabinding protein-1"	606649	"human immunodeficiency virus type I enhancer-binding protein 3"			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.492C>T	1.37:g.42049977G>A			A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F164	ENST00000372583.1	37	c.492	CCDS463.1	1																																																																																			HIVEP3	-	NULL	ENSG00000127124		0.597	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0	31	0	G	NM_024503		42049977	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	silent	37.50	30	18	SNP	0.266	A	A	42049977	G	A	42049977	2	1	69	1	0	0	0	0	0	0	0	1	7215	1049	37	1		1	HIVEP3	1	42049977	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	14055207	42049977	207200644	6	18682											
USP1	7398	genome.wustl.edu	37	chr1	62910645	62910645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactttaaagagaaactccCaaaaggaaatgggaaaagaa	22	5	9	5	0	0	3	0	0	0	3	1	6	1	5	1	2	1	0	1	2	9	2	rs528857044		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:62910645C>T	ENST00000339950.4	+	6	1609	c.794C>T	c.(793-795)cCa>cTa	p.P265L	USP1_ENST00000371146.1_Missense_Mutation_p.P265L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	265	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GAGAAACTCCCAAAAGGAAAT	0.363																																					Ovarian(122;1846 2315 3982 19504)												0													60	64	63					1																	62910645		2203	4297	6500	SO:0001583	missense	0				CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"Ubiquitin-specific peptidases"	12607	protein-coding gene	gene with protein product		603478	"ubiquitin specific protease 1"			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.794C>T	1.37:g.62910645C>T	ENSP00000343526:p.Pro265Leu		A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P265L	ENST00000339950.4	37	c.794	CCDS621.1	1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.733792	0.30684	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.17528	2.27;2.27	5.5	2.58	0.30949	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.553882	0.20370	N	0.093666	T	0.11367	0.0277	L	0.29908	0.895	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.19128	-1.0315	10	0.51188	T	0.08	0.2572	6.7233	0.23342	0.1181:0.6193:0.0:0.2627	.	265	O94782	UBP1_HUMAN	L	265	ENSP00000360188:P265L;ENSP00000343526:P265L	ENSP00000343526:P265L	P	+	2	0	USP1	62683233	0.000000	0.05858	0.954000	0.39281	0.892000	0.51952	0.077000	0.14738	0.875000	0.35847	0.650000	0.86243	CCA	USP1	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000162607		0.363	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP1	HGNC	protein_coding	OTTHUMT00000024881.1		0	11	0	C	NM_001017415		62910645	1			no_errors	ENST00000339950	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.001	T	T	62910645	C	T	62910645	3	4	69	1	0	0	0	0	1	0	0	0	17089	594	21	3	812	3	USP1	1	62910645	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	20860668	62910645	186339976	7	18683											
IL12RB2	3595	genome.wustl.edu	37	chr1	67796382	67796382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggaagacatgatttgctgGatctgaaaccatttacagaa	16	10	9	6	0	1	4	0	2	1	2	1	6	1	6	1	2	3	1	1	2	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:67796382G>A	ENST00000262345.1	+	7	1487	c.847G>A	c.(847-849)Gat>Aat	p.D283N	IL12RB2_ENST00000544434.1_Missense_Mutation_p.D283N|IL12RB2_ENST00000371000.1_Missense_Mutation_p.D283N|IL12RB2_ENST00000541374.1_Missense_Mutation_p.D283N	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	283	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGATTTGCTGGATCTGAAACC	0.328																																																	0													100	106	104					1																	67796382		2203	4300	6503	SO:0001583	missense	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.847G>A	1.37:g.67796382G>A	ENSP00000262345:p.Asp283Asn		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D283N	ENST00000262345.1	37	c.847	CCDS638.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.466953|1.466953	0.26335|0.26335	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434|ENST00000441640	T;T;T;T|.	0.55052|.	0.65;0.65;0.65;0.54|.	5.51|5.51	2.08|2.08	0.27032|0.27032	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	0.654431|.	0.16581|.	N|.	0.208218|.	T|T	0.22437|0.22437	0.0541|0.0541	L|L	0.50919|0.50919	1.6|1.6	0.09310|0.09310	N|N	0.999997|0.999997	B;B;P;B|.	0.34462|.	0.223;0.234;0.454;0.126|.	B;B;B;B|.	0.35813|.	0.143;0.061;0.211;0.031|.	T|T	0.16217|0.16217	-1.0410|-1.0410	10|5	0.24483|.	T|.	0.36|.	-9.0912|-9.0912	7.673|7.673	0.28470|0.28470	0.1781:0.1434:0.6786:0.0|0.1781:0.1434:0.6786:0.0	.|.	283;283;283;283|.	B4DGA4;F5H7L6;Q99665-2;Q99665|.	.;.;.;I12R2_HUMAN|.	N|E	283|150	ENSP00000262345:D283N;ENSP00000360039:D283N;ENSP00000445276:D283N;ENSP00000442443:D283N|.	ENSP00000262345:D283N|.	D|G	+|+	1|2	0|0	IL12RB2|IL12RB2	67568970|67568970	0.425000|0.425000	0.25498|0.25498	0.882000|0.882000	0.34594|0.34594	0.863000|0.863000	0.49368|0.49368	1.333000|1.333000	0.33816|0.33816	0.670000|0.670000	0.31165|0.31165	0.563000|0.563000	0.77884|0.77884	GAT|GGA	IL12RB2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000081985		0.328	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	-	0	37	0	G	NM_001559		67796382	1	tier1	-	no_errors	ENST00000262345	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.185	A	A	67796382	G	A	67796382	3	1	69	1	0	0	0	0	1	0	0	0	7654	1174	41	3	869	3	IL12RB2	1	67796382	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	4885737	67796382	181454239	8	18684											
LRRC7	57554	genome.wustl.edu	37	chr1	70446102	70446102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatttgagggagttatGgatggataataatgcattac	16	12	10	3	0	0	1	0	1	0	0	0	4	0	4	0	3	2	2	0	3	6	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:70446102G>T	ENST00000035383.5	+	7	668	c.638G>T	c.(637-639)tGg>tTg	p.W213L	LRRC7_ENST00000310961.5_Missense_Mutation_p.W218L|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	213						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGGAGTTATGGATGGATAAT	0.323																																																	0													179	185	183					1																	70446102		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.638G>T	1.37:g.70446102G>T	ENSP00000035383:p.Trp213Leu		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.W213L	ENST00000035383.5	37	c.638	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554332	0.86231	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.56275	1.92;0.47	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.49012	0.1532	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.41197	-0.9522	10	0.24483	T	0.36	.	16.3726	0.83370	0.0:0.0:1.0:0.0	.	213	Q96NW7	LRRC7_HUMAN	L	218;213;36	ENSP00000309245:W218L;ENSP00000035383:W213L	ENSP00000035383:W213L	W	+	2	0	LRRC7	70218690	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.147000	0.94646	2.608000	0.88229	0.650000	0.86243	TGG	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.323	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	53	0	G	NM_020794		70446102	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	T	T	70446102	G	T	70446102	3	4	69	1	0	0	0	0	1	0	0	0	9055	1357	47	3	664	3	LRRC7	1	70446102	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2649720	70446102	178804519	9	18685											
IFI44	10561	genome.wustl.edu	37	chr1	79125009	79125009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttacagtttaatcccatgGaatcaatcaaattaaatcat	16	13	3	9	0	3	0	3	0	0	0	4	1	4	1	2	1	1	1	2	1	7	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:79125009G>A	ENST00000370747.4	+	6	938	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	IFI44_ENST00000545124.1_Missense_Mutation_p.E2K|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	285					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TAATCCCATGGAATCAATCAA	0.343																																																	0													100	96	98					1																	79125009		2203	4300	6503	SO:0001583	missense	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.853G>A	1.37:g.79125009G>A	ENSP00000359783:p.Glu285Lys		B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	pfam_TLDc,superfamily_P-loop_NTPase	p.E285K	ENST00000370747.4	37	c.853	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.330808	0.01298	.	.	ENSG00000137965	ENST00000370747;ENST00000438486;ENST00000545124	T;T	0.40225	1.04;1.04	3.8	-1.32	0.09201	.	0.857641	0.10432	N	0.675430	T	0.01627	0.0052	N	0.00162	-1.95	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.001;0.0;0.0	T	0.43048	-0.9415	10	0.02654	T	1	.	4.4311	0.11527	0.3359:0.3495:0.3146:0.0	.	285;285;285	B4DYN8;B7ZB11;Q8TCB0	.;.;IFI44_HUMAN	K	285;161;2	ENSP00000359783:E285K;ENSP00000399477:E161K	ENSP00000359783:E285K	E	+	1	0	IFI44	78897597	0.000000	0.05858	0.001000	0.08648	0.133000	0.20885	0.090000	0.15025	-0.248000	0.09583	-0.524000	0.04348	GAA	IFI44	-	superfamily_P-loop_NTPase	ENSG00000137965		0.343	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	-	0	26	0	G	NM_006417		79125009	1	tier1	-	no_errors	ENST00000370747	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.001	A	A	79125009	G	A	79125009	3	1	69	1	0	0	0	0	1	0	0	0	7544	1175	41	3	871	3	IFI44	1	79125009	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	8678907	79125009	170125612	10	18686											
SSX2IP	117178	genome.wustl.edu	37	chr1	85136405	85136405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaactgtgcacatttttcGataaaggtattgaagaacat	17	12	7	5	1	0	2	0	1	0	1	1	3	0	2	0	1	3	2	0	1	7	5	rs373832172		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:85136405G>A	ENST00000342203.3	-	3	400	c.137C>T	c.(136-138)tCg>tTg	p.S46L	SSX2IP_ENST00000605755.1_Missense_Mutation_p.S19L|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Missense_Mutation_p.S19L|SSX2IP_ENST00000370612.4_Missense_Mutation_p.S46L	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	46					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CACATTTTTCGATAAAGGTAT	0.338																																																	0								G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	114	128	123		137,137,56,56,137	4.4	1	1		123	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense,missense,missense	SSX2IP	NM_014021.3,NM_001166417.1,NM_001166295.1,NM_001166294.1,NM_001166293.1	145,145,145,145,145	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	46/615,46/615,19/588,19/588,46/615	85136405	1,13001	2203	4298	6501	SO:0001583	missense	0				CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.137C>T	1.37:g.85136405G>A	ENSP00000340279:p.Ser46Leu		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	pfam_Afadin/alpha-actinin-bd	p.S46L	ENST00000342203.3	37	c.137	CCDS699.1	1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705984	0.48412	0.0	1.16E-4	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612;ENST00000422026	T;T	0.48522	0.84;0.81	5.33	4.42	0.53409	.	0.345508	0.31301	N	0.007894	T	0.18800	0.0451	N	0.24115	0.695	0.34287	D	0.682772	B;B;B	0.19706	0.03;0.038;0.018	B;B;B	0.10450	0.004;0.005;0.003	T	0.07868	-1.0750	10	0.62326	D	0.03	0.7109	12.3179	0.54969	0.0789:0.0:0.9211:0.0	.	42;46;19	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	L	46;19;42;46;46	ENSP00000340279:S46L;ENSP00000412781:S19L	ENSP00000340279:S46L	S	-	2	0	SSX2IP	84908993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.816000	0.55658	1.260000	0.44134	0.591000	0.81541	TCG	SSX2IP	-	NULL	ENSG00000117155		0.338	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX2IP	HGNC	protein_coding	OTTHUMT00000027469.1	-	0	19	0	G	NM_014021		85136405	-1	tier1	-	no_errors	ENST00000342203	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	A	A	85136405	G	A	85136405	3	1	69	1	0	0	0	0	1	0	0	0	15251	1059	37	1	1755	1	SSX2IP	1	85136405	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	6011396	85136405	164114216	11	18687											
DBT	1629	genome.wustl.edu	37	chr1	100681541	100681541	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttattattatcattacctTttatgggttctgttttgtct	6	24	6	5	0	3	0	1	0	2	0	3	0	3	0	1	1	1	3	1	1	5	9			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:100681541T>G	ENST00000370132.4	-	6	783	c.770A>C	c.(769-771)aAa>aCa	p.K257T	DBT_ENST00000370131.3_Missense_Mutation_p.K257T	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	257					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		ATCATTACCTTTTATGGGTTC	0.348																																																	0													152	153	153					1																	100681541		2203	4300	6503	SO:0001583	missense	0			BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.770A>C	1.37:g.100681541T>G	ENSP00000359151:p.Lys257Thr		B2R811|Q5VVL8	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.K257T	ENST00000370132.4	37	c.770	CCDS767.1	1	.	.	.	.	.	.	.	.	.	.	t	11.89	1.772464	0.31411	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.40225	1.04;1.04	5.66	1.63	0.23807	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.241085	0.47852	N	0.000209	T	0.09730	0.0239	N	0.04508	-0.205	0.52099	D	0.999949	B;B	0.02656	0.0;0.0	B;B	0.11329	0.002;0.006	T	0.05818	-1.0862	10	0.29301	T	0.29	-11.982	14.8904	0.70604	0.0:0.0:0.5837:0.4163	.	76;257	F5H1F9;P11182	.;ODB2_HUMAN	T	76;257;257	ENSP00000359151:K257T;ENSP00000359150:K257T	ENSP00000359150:K257T	K	-	2	0	DBT	100454129	1.000000	0.71417	0.949000	0.38748	0.991000	0.79684	2.466000	0.45084	0.482000	0.27582	0.524000	0.50904	AAA	DBT	-	pfam_2-oxoacid_DH_actylTfrase	ENSG00000137992		0.348	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBT	HGNC	protein_coding	OTTHUMT00000030101.2	-	0	67	0	T	NM_001918		100681541	-1	tier1	-	no_errors	ENST00000370132	ensembl	human	known	74_37	missense	51.22	40	42	SNP	1.000	G	G	100681541	T	G	100681541	3	3	69	1	0	0	0	0	1	0	0	0	4267	1841	64	4	702	4	DBT	1	100681541	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	15545136	100681541	148569080	12	18688											
GJA5	2702	genome.wustl.edu	37	chr1	147230991	147230991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtactcgtaagagccagagCcccggacctctttggccctc	7	8	11	15	2	1	2	0	0	1	2	3	3	1	3	5	3	3	2	5	3	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:147230991C>A	ENST00000271348.2	-	2	517	c.356G>T	c.(355-357)gGc>gTc	p.G119V	GJA5_ENST00000369237.1_Missense_Mutation_p.G119V|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	119					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AGAGCCAGAGCCCCGGACCTC	0.622																																																	0													68	67	67					1																	147230991		2203	4300	6503	SO:0001583	missense	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.356G>T	1.37:g.147230991C>A	ENSP00000271348:p.Gly119Val		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.G119V	ENST00000271348.2	37	c.356	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	C	0.917	-0.717031	0.03206	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.97752	-4.46;-4.46;-4.52	4.84	1.83	0.25207	.	1.543310	0.03392	N	0.202019	D	0.93612	0.7960	M	0.69823	2.125	0.19300	N	0.999976	B	0.34264	0.446	B	0.35182	0.197	D	0.86708	0.1934	10	0.33141	T	0.24	.	6.115	0.20122	0.1299:0.5497:0.251:0.0693	.	119	P36382	CXA5_HUMAN	V	119	ENSP00000271348:G119V;ENSP00000358240:G119V;ENSP00000407645:G119V	ENSP00000271348:G119V	G	-	2	0	GJA5	145697615	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.048000	0.14078	0.304000	0.22809	-0.175000	0.13238	GGC	GJA5	-	NULL	ENSG00000143140		0.622	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	-	0	31	0	C	NM_181703		147230991	-1	tier1	-	no_errors	ENST00000271348	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.002	A	A	147230991	C	A	147230991	3	1	69	1	0	0	0	0	1	0	0	0	6430	739	26	3	724	3	GJA5	1	147230991	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	46549450	147230991	102019630	13	18689											
HRNR	388697	genome.wustl.edu	37	chr1	152188213	152188213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccagacccatatgggccGtagctggaagactgcccaga	11	5	13	12	1	0	3	0	0	0	3	0	5	0	4	4	2	3	2	4	2	3	2	rs141147625	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:152188213G>A	ENST00000368801.2	-	3	5967	c.5892C>T	c.(5890-5892)taC>taT	p.Y1964Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1964					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATATGGGCCGTAGCTGGAAG	0.612																																																	0								A		157,4207	800.0+/-415.5	4,149,2029	391	658	568		5892	-6.8	0	1	dbSNP_134	568	1,8583		0,1,4291	no	coding-synonymous	HRNR	NM_001009931.1		4,150,6320	AA,AG,GG		0.0116,3.5976,1.2203		1964/2851	152188213	158,12790	2182	4292	6474	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5892C>T	1.37:g.152188213G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Y1964	ENST00000368801.2	37	c.5892	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	411	0	G	XM_373868		152188213	-1	tier1	rs141147625	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	6.36	633	43	SNP	0.000	A	A	152188213	G	A	152188213	2	1	69	1	0	0	0	0	0	0	0	1	7386	1140	40	1		1	HRNR	1	152188213	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	4957222	152188213	97062408	14	18690											
CD1E	913	genome.wustl.edu	37	chr1	158324300	158324300	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgggtgacctgcagacTcatggctgggacactgtctt	6	11	14	10	0	2	2	1	1	1	1	2	3	2	3	1	4	1	3	1	4	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:158324300T>A	ENST00000368167.3	+	2	431	c.192T>A	c.(190-192)acT>acA	p.T64T	CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Silent_p.T64T|CD1E_ENST00000434258.1_Silent_p.T62T|CD1E_ENST00000368156.1_Silent_p.T64T|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.T64T|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Silent_p.T64T|CD1E_ENST00000368165.3_Silent_p.T64T|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368163.3_Silent_p.T64T|CD1E_ENST00000368154.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	64					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCTGCAGACTCATGGCTGGG	0.562																																																	0													68	72	71					1																	158324300		2181	4299	6480	SO:0001819	synonymous_variant	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.192T>A	1.37:g.158324300T>A			B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.T64	ENST00000368167.3	37	c.192	CCDS41417.1	1																																																																																			CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.562	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	31	0	T	NM_030893		158324300	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.600	A	A	158324300	T	A	158324300	2	1	69	1	0	0	0	0	0	0	0	1	2985	1538	54	5		5	CD1E	1	158324300	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	6136087	158324300	90926321	15	18691											
LMOD1	25802	genome.wustl.edu	37	chr1	201869675	201869675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccttgtcaatgccccGgatgatcttctcctccttgg	4	12	9	16	2	3	1	1	1	2	0	5	2	4	2	6	3	1	0	6	3	1	3	rs369116037		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:201869675G>A	ENST00000367288.4	-	2	712	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	156					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCAATGCCCCGGATGATCTTC	0.557																																																	0								G	TRP/ARG	0,4024		0,0,2012	77	81	80		466	-5.4	0.7	1		80	2,8328		0,2,4163	no	missense	LMOD1	NM_012134.2	101	0,2,6175	AA,AG,GG		0.024,0.0,0.0162	probably-damaging	156/601	201869675	2,12352	2012	4165	6177	SO:0001583	missense	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.466C>T	1.37:g.201869675G>A	ENSP00000356257:p.Arg156Trp		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R156W	ENST00000367288.4	37	c.466	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.239036	0.58995	0.0	2.4E-4	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.12879	2.64	5.77	-5.38	0.02673	.	0.000000	0.43416	D	0.000569	T	0.27866	0.0686	M	0.67953	2.075	0.25074	N	0.990974	D;D	0.89917	1.0;0.999	D;P	0.70935	0.971;0.893	T	0.06991	-1.0796	10	0.72032	D	0.01	-43.2051	13.6656	0.62393	0.0:0.063:0.6521:0.2849	.	105;156	B4E3S9;P29536	.;LMOD1_HUMAN	W	156;156;105	ENSP00000356257:R156W	ENSP00000356257:R156W	R	-	1	2	LMOD1	200136298	0.914000	0.31030	0.668000	0.29813	0.949000	0.60115	0.409000	0.21082	-1.344000	0.02216	-1.014000	0.02459	CGG	LMOD1	-	NULL	ENSG00000163431		0.557	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2		0	33	0	G			201869675	-1			no_errors	ENST00000367288	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.263	A	A	201869675	G	A	201869675	3	1	69	1	0	0	0	0	1	0	0	0	8886	1115	39	1	1344	1	LMOD1	1	201869675	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	43545375	201869675	47380946	16	18692											
CR1	1378	genome.wustl.edu	37	chr1	207755263	207755263	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actactgctttgttctttagGtttcgcttaaagggcagttc	7	17	9	8	1	1	0	0	0	1	0	3	0	1	0	0	2	2	6	0	2	4	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:207755263G>T	ENST00000367049.4	+	32	5217	c.5217G>T	c.(5215-5217)ggG>ggT	p.G1739G	CR1_ENST00000367052.1_Splice_Site_p.G1289G|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Splice_Site_p.G1289G|CR1_ENST00000367053.1_Splice_Site_p.G1289G|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Splice_Site_p.G1289G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1289	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTTCTTTAGGTTTCGCTTAA	0.433																																																	0													182	185	184					1																	207755263		1971	4155	6126	SO:0001630	splice_region_variant	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.5217-1G>T	1.37:g.207755263G>T			Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G1739	ENST00000367049.4	37	c.5217	CCDS44308.1	1																																																																																			CR1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.433	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	-	0	149	0	G	NM_000573	Silent	207755263	1	tier1	-	no_errors	ENST00000367049	ensembl	human	known	74_37	silent	14.51	165	28	SNP	0.998	T	T	207755263	G	T	207755263	5	4	69	1	0	0	0	0	0	0	1	0	3847	1275	44	3	5343	3	CR1	1	207755263	Splice_Site	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	5885588	207755263	41495358	17	18693											
TRAF5	7188	genome.wustl.edu	37	chr1	211545598	211545598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggaaagctcatttggaagGtgacagattacaagatgaag	16	9	12	4	0	1	4	1	2	0	2	1	6	1	6	0	3	2	1	0	3	5	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:211545598G>A	ENST00000261464.5	+	11	1282	c.1228G>A	c.(1228-1230)Gtg>Atg	p.V410M	TRAF5_ENST00000336184.2_Missense_Mutation_p.V410M|TRAF5_ENST00000367004.3_Missense_Mutation_p.V410M|TRAF5_ENST00000427925.2_Missense_Mutation_p.V304M	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	410	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CATTTGGAAGGTGACAGATTA	0.463																																																	0													125	134	131					1																	211545598		2203	4300	6503	SO:0001583	missense	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1228G>A	1.37:g.211545598G>A	ENSP00000261464:p.Val410Met		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V410M	ENST00000261464.5	37	c.1228	CCDS1497.1	1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321373	0.60634	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.39406	1.91;1.08;1.91;1.91	5.16	4.23	0.50019	TRAF-type (1);TRAF-like (1);MATH (2);	0.198607	0.44097	D	0.000499	T	0.46870	0.1415	L	0.38175	1.15	0.35526	D	0.801875	D;D;D	0.71674	0.998;0.993;0.991	D;D;P	0.69142	0.962;0.93;0.906	T	0.58880	-0.7558	10	0.87932	D	0	-15.4514	4.1334	0.10159	0.1902:0.0:0.6096:0.2001	.	304;421;410	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	M	410;304;410;410	ENSP00000336825:V410M;ENSP00000389891:V304M;ENSP00000261464:V410M;ENSP00000355971:V410M	ENSP00000261464:V410M	V	+	1	0	TRAF5	209612221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.193000	0.77780	1.260000	0.44134	0.650000	0.86243	GTG	TRAF5	-	superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000082512		0.463	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1		0	44	0	G	NM_004619		211545598	1			no_errors	ENST00000261464	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A	A	211545598	G	A	211545598	3	1	69	1	0	0	0	0	1	0	0	0	16492	1261	44	3	1266	3	TRAF5	1	211545598	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3790335	211545598	37705023	18	18694											
CENPF	1063	genome.wustl.edu	37	chr1	214813616	214813616	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgcagagtaaaattaaTcacttggaaacttgtctgaa	16	12	7	6	0	2	2	1	1	1	1	2	3	2	3	0	1	3	2	0	1	6	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:214813616T>C	ENST00000366955.3	+	12	2103	c.1935T>C	c.(1933-1935)aaT>aaC	p.N645N		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTAAAATTAATCACTTGGAAA	0.353																																					Colon(80;575 1284 11000 14801 43496)												0													39	40	40					1																	214813616		2203	4299	6502	SO:0001819	synonymous_variant	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1935T>C	1.37:g.214813616T>C			Q13171|Q13246|Q5VVM7	Silent	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.N645	ENST00000366955.3	37	c.1935	CCDS31023.1	1																																																																																			CENPF	-	NULL	ENSG00000117724		0.353	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1		0	20	0	T	NM_016343		214813616	1			no_errors	ENST00000366955	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.004	C	C	214813616	T	C	214813616	2	2	69	1	0	0	0	0	0	0	0	1	3238	1432	50	4		4	CENPF	1	214813616	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	3268018	214813616	34437005	19	18695											
KIAA1804	84451	genome.wustl.edu	37	chr1	233512219	233512219	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtccttggtcaactatcTtaataaaaaatcagaaaacc	18	10	4	9	0	3	1	2	0	1	1	4	1	4	1	2	1	2	0	2	1	8	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:233512219T>A	ENST00000366624.3	+	8	2131	c.1870T>A	c.(1870-1872)Tta>Ata	p.L624I	MLK4_ENST00000366622.1_Missense_Mutation_p.L70I	NM_032435.2	NP_115811.2																					GTCAACTATCTTAATAAAAAA	0.413																																																	0													114	114	114					1																	233512219		2203	4300	6503	SO:0001583	missense	0																														ENST00000366624.3:c.1870T>A	1.37:g.233512219T>A	ENSP00000355583:p.Leu624Ile			Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.L624I	ENST00000366624.3	37	c.1870	CCDS1598.1	1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.302486	0.40795	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.78364	-1.17;2.84	5.11	-2.14	0.07123	.	0.543594	0.17419	N	0.174905	T	0.59810	0.2221	L	0.46819	1.47	0.23653	N	0.997199	P;B	0.35628	0.513;0.002	B;B	0.29524	0.103;0.009	T	0.53358	-0.8450	10	0.62326	D	0.03	.	2.0164	0.03499	0.3439:0.0677:0.2367:0.3517	.	71;624	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	I	624;70	ENSP00000355583:L624I;ENSP00000355581:L70I	ENSP00000355581:L70I	L	+	1	2	RP5-862P8.2	231578842	0.999000	0.42202	0.086000	0.20670	0.978000	0.69477	0.760000	0.26475	-0.185000	0.10550	0.533000	0.62120	TTA	MLK4	-	pirsf_MAPKKK9/10/11	ENSG00000143674		0.413	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_gn	protein_coding	OTTHUMT00000092495.1	-	0	44	0	T			233512219	1	tier1	-	no_errors	ENST00000366624	ensembl	human	known	74_37	missense	17.28	67	14	SNP	0.022	A	A	233512219	T	A	233512219	3	1	69	1	0	0	0	0	1	0	0	0	8286	1606	56	5	1900	5	KIAA1804	1	233512219	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	18698603	233512219	15738402	20	18696											
RYR2	6262	genome.wustl.edu	37	chr1	237865317	237865317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttatagaattctgactaGcttatatgctttgggaacca	11	16	8	6	0	1	2	0	1	1	1	1	3	1	3	1	1	3	3	1	1	7	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:237865317G>A	ENST00000366574.2	+	66	9724	c.9407G>A	c.(9406-9408)aGc>aAc	p.S3136N	RYR2_ENST00000542537.1_Missense_Mutation_p.S3120N|RYR2_ENST00000360064.6_Missense_Mutation_p.S3134N|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3136					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTCTGACTAGCTTATATGCT	0.333																																																	0													132	120	123					1																	237865317		1815	4080	5895	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.9407G>A	1.37:g.237865317G>A	ENSP00000355533:p.Ser3136Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S3134N	ENST00000366574.2	37	c.9401	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789647	0.90367	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	T;T;T	0.30981	1.51;1.51;1.51	4.83	4.83	0.62350	.	0.000000	0.85682	U	0.000000	T	0.57460	0.2055	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.62695	-0.6800	10	0.59425	D	0.04	.	18.2786	0.90091	0.0:0.0:1.0:0.0	.	3136	Q92736	RYR2_HUMAN	N	3136;3134;3120;91;131	ENSP00000355533:S3136N;ENSP00000353174:S3134N;ENSP00000443798:S3120N	ENSP00000353174:S3134N	S	+	2	0	RYR2	235931940	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.921000	0.87530	2.371000	0.80710	0.573000	0.79308	AGC	RYR2	-	NULL	ENSG00000198626		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	38	0	G	NM_001035		237865317	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	A	A	237865317	G	A	237865317	3	1	69	1	0	0	0	0	1	0	0	0	13814	971	34	3	9669	3	RYR2	1	237865317	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	4353098	237865317	11385304	21	18697											
NLRP3	114548	genome.wustl.edu	37	chr1	247588567	247588567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaaatcaggctggagCtgctgaaatggattgaagtg	12	9	13	7	0	2	2	2	2	0	0	2	4	2	4	0	3	3	4	0	3	3	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr1:247588567C>A	ENST00000336119.3	+	3	2568	c.1822C>A	c.(1822-1824)Ctg>Atg	p.L608M	NLRP3_ENST00000391828.3_Missense_Mutation_p.L608M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L608M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L608M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L608M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L608M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	608					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGCTGGAGCTGCTGAAATG	0.463																																																	0													52	53	53					1																	247588567		2203	4300	6503	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1822C>A	1.37:g.247588567C>A	ENSP00000337383:p.Leu608Met		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L608M	ENST00000336119.3	37	c.1822	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.316080	0.40996	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	3.96	0.736	0.18307	.	0.000000	0.40469	N	0.001097	D	0.90625	0.7060	M	0.75085	2.285	0.27457	N	0.95327	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.993;0.989	D;D;D;D;D	0.87578	0.996;0.98;0.998;0.96;0.919	T	0.82468	-0.0442	10	0.72032	D	0.01	.	6.0187	0.19616	0.0:0.6173:0.0:0.3827	.	608;608;608;608;608	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	608	ENSP00000375704:L608M;ENSP00000355453:L608M;ENSP00000337383:L608M;ENSP00000294752:L608M;ENSP00000355452:L608M;ENSP00000375703:L608M	ENSP00000337383:L608M	L	+	1	2	NLRP3	245655190	0.001000	0.12720	0.944000	0.38274	0.893000	0.52053	-0.081000	0.11321	0.165000	0.19558	-0.140000	0.14226	CTG	NLRP3	-	NULL	ENSG00000162711		0.463	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	-	0	46	0	C	NM_004895		247588567	1	tier1	-	no_errors	ENST00000336119	ensembl	human	known	74_37	missense	25.00	48	16	SNP	0.934	A	A	247588567	C	A	247588567	3	1	69	1	0	0	0	0	1	0	0	0	10517	796	28	3	1832	3	NLRP3	1	247588567	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	9723250	247588567	1662054	22	18698											
PXDN	7837	genome.wustl.edu	37	chr2	1652615	1652615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcaggcccagctgctcGttggcgcggtggtccccggc	2	8	16	15	4	1	0	1	0	0	0	3	0	2	0	3	6	2	3	3	6	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:1652615G>A	ENST00000252804.4	-	17	2987	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	979					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGCTGCTCGTTGGCGCGGT	0.692																																																	0													18	19	19					2																	1652615		2132	4223	6355	SO:0001819	synonymous_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2937C>T	2.37:g.1652615G>A			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.N979	ENST00000252804.4	37	c.2937	CCDS46221.1	2																																																																																			PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1		0	23	0	G	XM_056455		1652615	-1			no_errors	ENST00000252804	ensembl	human	known	74_37	silent	20.00	24	6	SNP	0.996	A	A	1652615	G	A	1652615	2	1	69	1	0	0	0	0	0	0	0	1	12892	1136	40	1		1	PXDN	2	1652615	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09		1652615	241546758	23	18699											
GPR113	165082	genome.wustl.edu	37	chr2	26534262	26534262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccagtatggaagctccCaagcccacttgagtcagcag	11	6	11	13	1	1	1	1	1	0	0	2	2	2	2	3	1	4	3	3	1	3	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:26534262C>A	ENST00000311519.1	-	11	2333	c.2334G>T	c.(2332-2334)ttG>ttT	p.L778F	GPR113_ENST00000541401.1_Missense_Mutation_p.L381F|GPR113_ENST00000421160.2_Missense_Mutation_p.L709F|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000333478.6_Missense_Mutation_p.L579F	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	778					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAAGCTCCCAAGCCCACTT	0.612																																																	0													96	99	98					2																	26534262		2203	4300	6503	SO:0001583	missense	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"-", "GPCR / Class B : Orphans"	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2334G>T	2.37:g.26534262C>A	ENSP00000307831:p.Leu778Phe		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L579F	ENST00000311519.1	37	c.1737	CCDS46239.1	2	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362400	0.61403	.	.	ENSG00000173567	ENST00000541401;ENST00000333478;ENST00000421160;ENST00000311519	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.85	2.93	0.34026	GPCR, family 2-like (1);	.	.	.	.	T	0.67411	0.2890	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.80764	0.993;0.988;0.994;0.991	T	0.67090	-0.5758	9	0.87932	D	0	-1.4714	5.2145	0.15334	0.0:0.5937:0.1493:0.257	.	709;579;778;381	E9PEV1;Q8IZF5-2;Q8IZF5;F5H1E4	.;.;GP113_HUMAN;.	F	381;579;709;778	ENSP00000445729:L381F;ENSP00000327396:L579F;ENSP00000388537:L709F;ENSP00000307831:L778F	ENSP00000307831:L778F	L	-	3	2	GPR113	26387766	0.001000	0.12720	0.465000	0.27155	0.925000	0.55904	-0.254000	0.08781	0.743000	0.32719	0.650000	0.86243	TTG	GPR113	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000173567		0.612	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	-	0	27	0	C	NM_153835		26534262	-1	tier1	-	no_errors	ENST00000333478	ensembl	human	known	74_37	missense	17.39	38	8	SNP	0.953	A	A	26534262	C	A	26534262	3	1	69	1	0	0	0	0	1	0	0	0	6656	593	21	3	1006	3	GPR113	2	26534262	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	24881647	26534262	216665111	24	18700											
LTBP1	4052	genome.wustl.edu	37	chr2	33622241	33622241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttacaggctgaggaatgcGgcatcctcaatggatgtgaa	12	9	13	7	1	1	2	1	2	0	0	2	4	2	4	1	4	2	3	1	4	4	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:33622241G>A	ENST00000404816.2	+	33	5229	c.4876G>A	c.(4876-4878)Ggc>Agc	p.G1626S	LTBP1_ENST00000390003.4_Missense_Mutation_p.G1301S|LTBP1_ENST00000402934.1_Missense_Mutation_p.G1245S|LTBP1_ENST00000418533.2_Missense_Mutation_p.G1258S|LTBP1_ENST00000272273.5_Missense_Mutation_p.G524S|LTBP1_ENST00000407925.1_Missense_Mutation_p.G1300S|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1627S|LTBP1_ENST00000404525.1_Missense_Mutation_p.G1247S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1626	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGAGGAATGCGGCATCCTCAA	0.453																																																	0													166	152	157					2																	33622241		2203	4300	6503	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4876G>A	2.37:g.33622241G>A	ENSP00000386043:p.Gly1626Ser		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G1627S	ENST00000404816.2	37	c.4879	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	35	5.573938	0.96553	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.49	5.49	0.81192	Matrix fibril-associated (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.91240	0.7239	L	0.41492	1.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D	0.91246	0.5025	9	0.56958	D	0.05	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	524;1626;1258;1247;1300;1301;1627	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	S	1626;1627;1301;1258;1245;1247;1300;524	ENSP00000386043:G1626S;ENSP00000346467:G1627S;ENSP00000374653:G1301S;ENSP00000393057:G1258S;ENSP00000384373:G1245S;ENSP00000385359:G1247S;ENSP00000384091:G1300S;ENSP00000272273:G524S	ENSP00000272273:G524S	G	+	1	0	LTBP1	33475745	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.733000	0.93635	0.655000	0.94253	GGC	LTBP1	-	superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000049323		0.453	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	68	0	G	NM_206943		33622241	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	33.66	67	34	SNP	1.000	A	A	33622241	G	A	33622241	3	1	69	1	0	0	0	0	1	0	0	0	9108	1116	39	1	5061	1	LTBP1	2	33622241	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	7087979	33622241	209577132	25	18701											
SLC8A1	6546	genome.wustl.edu	37	chr2	40656365	40656365	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgctgctgacttaggacTtggtagttagctaattctat	8	18	9	6	0	1	1	0	1	1	0	1	2	1	2	0	2	3	5	0	2	5	9			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:40656365T>A	ENST00000403092.1	-	2	1089	c.1056A>T	c.(1054-1056)caA>caT	p.Q352H	SLC8A1_ENST00000408028.2_Missense_Mutation_p.Q352H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.Q352H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.Q352H|SLC8A1_ENST00000542756.1_Missense_Mutation_p.Q352H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.Q352H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.Q352H|SLC8A1_ENST00000406785.2_Missense_Mutation_p.Q352H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.Q352H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.Q352H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	352					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GACTTAGGACTTGGTAGTTAG	0.413																																																	0													168	167	167					2																	40656365		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1056A>T	2.37:g.40656365T>A	ENSP00000384763:p.Gln352His		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.Q352H	ENST00000403092.1	37	c.1056	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767425	0.31320	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.29917	1.56;1.6;1.6;1.6;1.56;1.56;1.6;1.56;1.56;1.55	6.17	-4.89	0.03103	Heat shock protein DnaJ, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	L	0.49350	1.555	0.80722	D	1	D;D;D;B;B	0.76494	0.999;0.995;0.999;0.094;0.056	D;D;D;B;B	0.83275	0.993;0.996;0.995;0.055;0.037	T	0.36553	-0.9743	10	0.41790	T	0.15	.	15.3352	0.74247	0.0:0.6094:0.0:0.3906	.	352;352;352;352;352	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	H	352	ENSP00000383886:Q352H;ENSP00000440727:Q352H;ENSP00000384763:Q352H;ENSP00000385678:Q352H;ENSP00000385188:Q352H;ENSP00000385535:Q352H;ENSP00000332931:Q352H;ENSP00000384908:Q352H;ENSP00000385811:Q352H;ENSP00000443515:Q352H	ENSP00000332931:Q352H	Q	-	3	2	SLC8A1	40509869	0.840000	0.29493	0.929000	0.37066	0.998000	0.95712	-0.064000	0.11636	-0.897000	0.03910	0.533000	0.62120	CAA	SLC8A1	-	pfscan_DnaJ_domain,tigrfam_Na_Ca_Ex	ENSG00000183023		0.413	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0	79	0	T	NM_021097		40656365	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	missense	30.68	61	27	SNP	0.968	A	A	40656365	T	A	40656365	3	1	69	1	0	0	0	0	1	0	0	0	14751	1606	56	5	2013	5	SLC8A1	2	40656365	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	7034124	40656365	202543008	26	18702											
DGUOK	1716	genome.wustl.edu	37	chr2	74184313	74184313	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaggaattgagctggcctAtctagagcagctgcatggcc	11	8	13	9	0	1	2	0	1	1	1	1	4	1	3	2	3	4	4	2	3	4	3	rs137902450	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:74184313A>T	ENST00000264093.4	+	5	738	c.653A>T	c.(652-654)tAt>tTt	p.Y218F	DGUOK_ENST00000356837.6_Missense_Mutation_p.Y196F|DGUOK-AS1_ENST00000413452.1_RNA|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000439192.1_RNA|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	218					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	GAGCTGGCCTATCTAGAGCAG	0.507																																																	0													91	78	83					2																	74184313		2203	4300	6503	SO:0001583	missense	0			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.653A>T	2.37:g.74184313A>T	ENSP00000264093:p.Tyr218Phe		P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	p.Y218F	ENST00000264093.4	37	c.653	CCDS1931.1	2	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529436	0.85706	.	.	ENSG00000114956	ENST00000264093;ENST00000356837;ENST00000347161	D;D	0.99851	-7.17;-7.17	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96356	0.9262	10	0.87932	D	0	-13.1969	13.9466	0.64089	1.0:0.0:0.0:0.0	.	218	Q16854	DGUOK_HUMAN	F	218;196;180	ENSP00000264093:Y218F;ENSP00000349294:Y196F	ENSP00000264093:Y218F	Y	+	2	0	DGUOK	74037821	1.000000	0.71417	0.987000	0.45799	0.913000	0.54294	7.686000	0.84128	1.952000	0.56665	0.459000	0.35465	TAT	DGUOK	-	pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase	ENSG00000114956		0.507	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	-	0	26	0	A			74184313	1	tier1	-	no_errors	ENST00000264093	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	74184313	A	T	74184313	3	4	69	1	0	0	0	0	1	0	0	0	4489	449	16	5	671	5	DGUOK	2	74184313	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	33527948	74184313	169015060	27	18703											
RGPD3	653489	genome.wustl.edu	37	chr2	107049690	107049690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcactatagttttcgagttCctgcatgactgacttaagca	10	15	7	9	1	1	2	1	2	0	0	3	3	2	2	1	0	2	4	1	0	3	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:107049690C>T	ENST00000409886.3	-	16	2344	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E753K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	753					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTTCGAGTTCCTGCATGACT	0.368																																																	0													128	108	114					2																	107049690		692	1590	2282	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2257G>A	2.37:g.107049690C>T	ENSP00000386588:p.Glu753Lys		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E753K	ENST00000409886.3	37	c.2257	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	6.877	0.531227	0.13127	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.20738	2.05;2.05	2.34	2.34	0.29019	.	.	.	.	.	T	0.18759	0.0450	L	0.60455	1.87	0.26264	N	0.978537	B	0.23854	0.092	B	0.14578	0.011	T	0.16453	-1.0402	9	0.51188	T	0.08	-20.1361	5.0731	0.14617	0.0:0.8227:0.0:0.1773	.	753	A6NKT7	RGPD3_HUMAN	K	753;511;753	ENSP00000386588:E753K;ENSP00000303659:E753K	ENSP00000303659:E753K	E	-	1	0	RGPD3	106416122	0.997000	0.39634	0.965000	0.40720	0.017000	0.09413	1.622000	0.36997	1.308000	0.44962	0.173000	0.16961	GAA	RGPD3	-	NULL	ENSG00000153165		0.368	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0	219	0	C	XM_929931		107049690	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	5.46	277	16	SNP	1.000	T	T	107049690	C	T	107049690	3	4	69	1	0	0	0	0	1	0	0	0	13332	864	30	3	3051	3	RGPD3	2	107049690	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	32865377	107049690	136149683	28	18704											
MERTK	10461	genome.wustl.edu	37	chr2	112722829	112722829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagggctgaccgtgtcCaagggagtgcagatcaacat	13	6	13	9	1	1	2	1	1	0	1	2	4	2	3	2	2	2	2	2	2	3	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:112722829C>T	ENST00000295408.4	+	5	1076	c.819C>T	c.(817-819)tcC>tcT	p.S273S	MERTK_ENST00000409780.1_Silent_p.S97S|MERTK_ENST00000421804.2_Silent_p.S273S			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	273	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGACCGTGTCCAAGGGAGTGC	0.557																																																	0													125	98	107					2																	112722829		2203	4300	6503	SO:0001819	synonymous_variant	0			U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7027	protein-coding gene	gene with protein product		604705	"c-mer proto-oncogene tyrosine kinase"			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.819C>T	2.37:g.112722829C>T			Q9HBB4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S273	ENST00000295408.4	37	c.819	CCDS2094.1	2																																																																																			MERTK	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000153208		0.557	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	-	0	41	0	C			112722829	1	tier1	-	no_errors	ENST00000295408	ensembl	human	known	74_37	silent	45.07	39	32	SNP	1.000	T	T	112722829	C	T	112722829	2	4	69	1	0	0	0	0	0	0	0	1	9517	581	21	3		3	MERTK	2	112722829	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	5673139	112722829	130476544	29	18705											
MGAT5	4249	genome.wustl.edu	37	chr2	135199370	135199370	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtggccacccctcagcgcCctacaggtcaagcttgctga	8	8	10	15	1	2	1	2	1	0	0	2	1	2	1	4	2	4	2	4	2	2	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:135199370C>T	ENST00000409645.1	+	16	2163	c.1911C>T	c.(1909-1911)gcC>gcT	p.A637A	MGAT5_ENST00000281923.2_Silent_p.A637A			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	637					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCCTCAGCGCCCTACAGGTCA	0.592																																																	0													80	76	77					2																	135199370		2203	4300	6503	SO:0001819	synonymous_variant	0			D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1911C>T	2.37:g.135199370C>T			D3DP70	Silent	SNP	NULL	p.A637	ENST00000409645.1	37	c.1911	CCDS2171.1	2																																																																																			MGAT5	-	NULL	ENSG00000152127		0.592	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT5	HGNC	protein_coding	OTTHUMT00000254584.3	-	0	47	0	C	NM_002410		135199370	1	tier1	-	no_errors	ENST00000281923	ensembl	human	known	74_37	silent	23.88	51	16	SNP	1.000	T	T	135199370	C	T	135199370	2	4	69	1	0	0	0	0	0	0	0	1	9586	610	22	3		3	MGAT5	2	135199370	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	22476541	135199370	108000003	30	18706											
LRP1B	53353	genome.wustl.edu	37	chr2	141458111	141458111	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaaatatccatgggcacaAgcacaagttctccgggaatt	13	8	9	11	1	1	0	0	0	1	0	3	1	2	1	3	2	1	3	3	2	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:141458111A>C	ENST00000389484.3	-	41	7478	c.6507T>G	c.(6505-6507)gcT>gcG	p.A2169A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2169	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGGGCACAAGCACAAGTTC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													101	101	101					2																	141458111		2203	4299	6502	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6507T>G	2.37:g.141458111A>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A2169	ENST00000389484.3	37	c.6507	CCDS2182.1	2																																																																																			LRP1B	-	smart_EG-like_dom	ENSG00000168702		0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	32	0	A	NM_018557		141458111	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	37.78	28	17	SNP	1.000	C	C	141458111	A	C	141458111	2	2	69	1	0	0	0	0	0	0	0	1	8990	59	3	4		4	LRP1B	2	141458111	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	6258741	141458111	101741262	31	18707											
FMNL2	114793	genome.wustl.edu	37	chr2	153482063	153482063	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgaaattgatgatgAgcgaattctggaggtatttt	12	15	10	4	1	2	4	1	4	1	0	2	6	2	5	0	2	1	1	0	2	4	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:153482063A>T	ENST00000475377.2	+	3	274	c.74A>T	c.(73-75)gAg>gTg	p.E25V	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000288670.9_Missense_Mutation_p.E650V			Q96PY5	FMNL2_HUMAN	formin-like 2	650	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ATTGATGATGAGCGAATTCTG	0.443																																																	0													122	115	117					2																	153482063		1859	4097	5956	SO:0001583	missense	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"formin homology 2 domain containing 2"	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.74A>T	2.37:g.153482063A>T	ENSP00000418959:p.Glu25Val		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E650V	ENST00000475377.2	37	c.1949		2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145030	0.77888	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.18657	2.2;2.2	6.17	6.17	0.99709	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	M	0.87456	2.885	0.80722	D	1	D;D;D	0.76494	0.999;0.984;0.997	D;D;D	0.85130	0.997;0.959;0.963	T	0.60031	-0.7342	10	0.62326	D	0.03	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	650;131;650	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	V	650;131;25	ENSP00000288670:E650V;ENSP00000418959:E25V	ENSP00000288670:E650V	E	+	2	0	FMNL2	153190309	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GAG	FMNL2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000157827		0.443	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	HGNC	protein_coding	OTTHUMT00000333583.3	-	0	23	0	A	NM_052905		153482063	1	tier1	-	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	153482063	A	T	153482063	3	4	69	1	0	0	0	0	1	0	0	0	5974	304	11	5	2011	5	FMNL2	2	153482063	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	12023952	153482063	89717310	32	18708											
IFIH1	64135	genome.wustl.edu	37	chr2	163128830	163128830	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaactgtctcatgttcgAtaactcctgaaccactgtga	11	13	6	11	1	1	2	1	2	1	0	4	3	2	2	2	0	3	1	2	0	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:163128830A>T	ENST00000263642.2	-	13	2917	c.2522T>A	c.(2521-2523)aTc>aAc	p.I841N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	841	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTCATGTTCGATAACTCCTGA	0.413																																																	0													102	89	93					2																	163128830		2203	4300	6503	SO:0001583	missense	0			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2522T>A	2.37:g.163128830A>T	ENSP00000263642:p.Ile841Asn		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I841N	ENST00000263642.2	37	c.2522	CCDS2217.1	2	.	.	.	.	.	.	.	.	.	.	A	14.32	2.498935	0.44455	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.04809	3.55	5.76	4.62	0.57501	Helicase, C-terminal (1);	0.566473	0.20670	N	0.087850	T	0.04543	0.0124	L	0.51422	1.61	0.09310	N	0.999999	P	0.40266	0.71	B	0.32624	0.149	T	0.38394	-0.9663	10	0.17832	T	0.49	-0.6111	9.03	0.36254	0.85:0.0:0.15:0.0	.	841	Q9BYX4	IFIH1_HUMAN	N	841	ENSP00000263642:I841N	ENSP00000263642:I841N	I	-	2	0	IFIH1	162837076	0.988000	0.35896	0.256000	0.24389	0.952000	0.60782	3.343000	0.52167	1.021000	0.39600	0.528000	0.53228	ATC	IFIH1	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000115267		0.413	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2		0	45	0	A	NM_022168		163128830	-1			no_errors	ENST00000263642	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.253	T	T	163128830	A	T	163128830	3	4	69	1	0	0	0	0	1	0	0	0	7547	333	12	5	571	5	IFIH1	2	163128830	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	9646767	163128830	80070543	33	18709											
SCN3A	6328	genome.wustl.edu	37	chr2	165994580	165994580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcaagaacacattggCaaatctataccagcatggcg	15	7	8	11	1	2	2	1	0	1	2	2	2	2	2	2	2	3	2	2	2	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:165994580C>A	ENST00000360093.3	-	15	2691	c.2200G>T	c.(2200-2202)Gcc>Tcc	p.A734S	SCN3A_ENST00000409101.3_Missense_Mutation_p.A685S|SCN3A_ENST00000283254.7_Missense_Mutation_p.A734S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	734					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACACATTGGCAAATCTATAC	0.363																																																	0													103	101	102					2																	165994580		2203	4300	6503	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2200G>T	2.37:g.165994580C>A	ENSP00000353206:p.Ala734Ser		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.A734S	ENST00000360093.3	37	c.2200		2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885961	0.91814	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96774	-4.12;-4.12;-4.0;-3.89	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000010	D	0.97356	0.9135	L	0.48935	1.535	0.80722	D	1	P;D;D;D;P	0.67145	0.733;0.993;0.996;0.996;0.85	B;D;D;D;P	0.77557	0.363;0.978;0.99;0.99;0.591	D	0.96845	0.9621	10	0.45353	T	0.12	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	734;685;685;685;734	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	S	734;734;685;685	ENSP00000353206:A734S;ENSP00000283254:A734S;ENSP00000386726:A685S;ENSP00000403348:A685S	ENSP00000283254:A734S	A	-	1	0	SCN3A	165702826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.935000	0.70145	2.880000	0.98712	0.650000	0.86243	GCC	SCN3A	-	NULL	ENSG00000153253		0.363	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	57	0	C	NM_006922		165994580	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	A	A	165994580	C	A	165994580	3	1	69	1	0	0	0	0	1	0	0	0	13963	710	25	3	3858	3	SCN3A	2	165994580	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	2865750	165994580	77204793	34	18710											
TTN	7273	genome.wustl.edu	37	chr2	179454489	179454489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaatgggagtttttgtttCgatggttggcccaacaccta	9	13	11	8	1	0	1	0	0	0	1	1	3	0	2	2	3	1	3	2	3	3	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:179454489C>T	ENST00000591111.1	-	254	57264	c.57040G>A	c.(57040-57042)Gaa>Aaa	p.E19014K	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E11782K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E11715K|TTN_ENST00000342992.6_Missense_Mutation_p.E18087K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11590K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E20655K			Q8WZ42	TITIN_HUMAN	titin	19014	Fibronectin type-III 37. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTTGTTTCGATGGTTGGC	0.393																																																	0													222	212	215					2																	179454489		1889	4103	5992	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57040G>A	2.37:g.179454489C>T	ENSP00000465570:p.Glu19014Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E18087K	ENST00000591111.1	37	c.54259		2	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756785	0.49362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.1	6.1	0.99115	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74951	0.3784	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.75224	-0.3393	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	11590;11715;11782;19014	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18087;11590;11782;11715;11588	ENSP00000343764:E18087K;ENSP00000434586:E11590K;ENSP00000340554:E11782K;ENSP00000352154:E11715K	ENSP00000340554:E11782K	E	-	1	0	TTN	179162735	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.770000	0.85390	2.902000	0.99343	0.650000	0.86243	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	72	0	C	NM_133378		179454489	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	22.22	63	18	SNP	1.000	T	T	179454489	C	T	179454489	3	4	69	1	0	0	0	0	1	0	0	0	16784	893	31	1	46252	1	TTN	2	179454489	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	13459909	179454489	63744884	35	18711											
TTN	7273	genome.wustl.edu	37	chr2	179596509	179596509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatctgcagctacaaacTtgaggatctgcaggctaacc	12	8	9	12	0	2	1	0	1	2	0	2	2	2	2	1	2	7	5	1	2	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:179596509T>C	ENST00000591111.1	-	56	16366	c.16142A>G	c.(16141-16143)aAg>aGg	p.K5381R	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K4454R|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K5698R			Q8WZ42	TITIN_HUMAN	titin	12200	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTACAAACTTGAGGATCTG	0.478																																																	0													116	116	116					2																	179596509		1946	4153	6099	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16142A>G	2.37:g.179596509T>C	ENSP00000465570:p.Lys5381Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K4454R	ENST00000591111.1	37	c.13361		2	.	.	.	.	.	.	.	.	.	.	T	9.043	0.990077	0.18966	.	.	ENSG00000155657	ENST00000342992	T	0.43294	0.95	5.93	4.77	0.60923	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.27933	0.0688	N	0.17872	0.535	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.07290	-1.0780	9	0.87932	D	0	.	8.1821	0.31317	0.0:0.2227:0.0:0.7773	.	5381	Q8WZ42	TITIN_HUMAN	R	4454	ENSP00000343764:K4454R	ENSP00000343764:K4454R	K	-	2	0	TTN	179304754	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.525000	0.22956	1.072000	0.40860	0.533000	0.62120	AAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	38	0	T	NM_133378		179596509	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	C	C	179596509	T	C	179596509	3	2	69	1	0	0	0	0	1	0	0	0	16784	1609	56	4	87656	4	TTN	2	179596509	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	142020	179596509	63602864	36	18712											
SUMO1	7341	genome.wustl.edu	37	chr2	203084799	203084799	+	Frame_Shift_Del	DEL	C	C	-																															atattcaccttccttcttatCccccaagtcctcagttgaag																										TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:203084799delC	ENST00000392246.2	-	2	199	c.43delG	c.(43-45)gatfs	p.D15fs	SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000392244.3_Intron|SUMO1_ENST00000409368.1_Frame_Shift_Del_p.D15fs|SUMO1_ENST00000392245.1_Frame_Shift_Del_p.D15fs|SUMO1_ENST00000409712.1_Frame_Shift_Del_p.D15fs|SUMO1_ENST00000409205.1_5'UTR|SUMO1_ENST00000409181.1_Frame_Shift_Del_p.D15fs|SUMO1_ENST00000409498.2_5'UTR	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	15					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|DNA repair (GO:0006281)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of DNA binding (GO:0043392)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|PML body organization (GO:0030578)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein complex assembly (GO:0031334)|post-translational protein modification (GO:0043687)|protein localization to nuclear pore (GO:0090204)|protein sumoylation (GO:0016925)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein localization (GO:0032880)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)										TCCTTCTTATCCCCCAAGTCC	0.338																																																	0													122	132	129					2																	203084799		2203	4299	6502	SO:0001589	frameshift_variant	0			U38784	CCDS2352.1, CCDS46493.1	2q33	2013-06-05	2013-06-05	2004-05-19	ENSG00000116030	ENSG00000116030			12502	protein-coding gene	gene with protein product		601912	"ubiquitin-like 1 (sentrin)", "SMT3 suppressor of mif two 3 homolog 1 (yeast)", "SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)"	UBL1		8812453, 8906799	Standard	NM_003352		Approved	PIC1, GMP1, SMT3C, SUMO-1, SMT3H3, OFC10	uc002uyz.1	P63165	OTTHUMG00000132839	ENST00000392246.2:c.43delG	2.37:g.203084799delC	ENSP00000376077:p.Asp15fs		A8MUS8|B2R4I5|P55856|Q6FGG0|Q6NZ62|Q93068	Frame_Shift_Del	DEL	pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.D15fs	ENST00000392246.2	37	c.43	CCDS2352.1	2																																																																																			SUMO1	-	NULL	ENSG00000116030		0.338	SUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMO1	HGNC	protein_coding	OTTHUMT00000256312.2		0	51	0	C	NM_003352		203084799	-1	tier1		no_errors	ENST00000392245	ensembl	human	known	74_37	frame_shift_del	29.17	51	21	DEL	1.000	-	-	203084799	C	-	203084799	7	5	69	1	0	1	0	1	0	0	0	0	15434	855	30	0	278	0	SUMO1	2	203084799	Frame_Shift_Del	DEL	C	TCGA-L5-A4OW-01A-11D-A28B-09	23488290	203084799	40114574	37	18713											
CPS1	1373	genome.wustl.edu	37	chr2	211512630	211512630	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttggaggccagattccaaAcaacctggcagttcctctat	11	10	9	11	0	1	1	0	0	1	1	3	2	3	2	4	3	2	3	4	3	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:211512630A>C	ENST00000233072.5	+	26	3381	c.3185A>C	c.(3184-3186)aAc>aCc	p.N1062T	CPS1_ENST00000430249.2_Missense_Mutation_p.N1068T|CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.N611T	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1062					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CAGATTCCAAACAACCTGGCA	0.478																																																	0			GRCh37	CD064534	CPS1	D							98	92	94					2																	211512630		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3185A>C	2.37:g.211512630A>C	ENSP00000233072:p.Asn1062Thr		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.N1068T	ENST00000233072.5	37	c.3203	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236723	0.79800	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.97378	-4.36;-4.36;-4.36	5.59	5.59	0.84812	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.95437	3.67	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.99643	1.0989	10	0.87932	D	0	-12.1503	16.07	0.80919	1.0:0.0:0.0:0.0	.	1072;1062	Q59HF8;P31327	.;CPSM_HUMAN	T	1068;1070;1062;611	ENSP00000402608:N1068T;ENSP00000233072:N1062T;ENSP00000406136:N611T	ENSP00000233072:N1062T	N	+	2	0	CPS1	211220875	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.910000	0.92685	2.254000	0.74563	0.533000	0.62120	AAC	CPS1	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.478	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	80	0	A			211512630	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	16.28	72	14	SNP	1.000	C	C	211512630	A	C	211512630	3	2	69	1	0	0	0	0	1	0	0	0	3830	43	2	4	3309	4	CPS1	2	211512630	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	8427831	211512630	31686743	38	18714											
CPS1	1373	genome.wustl.edu	37	chr2	211542621	211542621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattttcaggtgaccaaacTttttgctgaagctgtgcaga	11	14	9	7	0	1	3	1	2	0	1	1	3	1	3	1	1	4	3	1	1	3	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:211542621T>G	ENST00000233072.5	+	38	4611	c.4415T>G	c.(4414-4416)cTt>cGt	p.L1472R	CPS1_ENST00000430249.2_Missense_Mutation_p.L1478R|CPS1_ENST00000451903.2_Missense_Mutation_p.L1021R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1472					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GTGACCAAACTTTTTGCTGAA	0.428																																																	0													220	232	228					2																	211542621		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4415T>G	2.37:g.211542621T>G	ENSP00000233072:p.Leu1472Arg		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.L1478R	ENST00000233072.5	37	c.4433	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292209	0.80914	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.87334	-2.24;-2.24;-2.24	5.58	5.58	0.84498	Methylglyoxal synthase-like domain (2);	0.000000	0.85682	D	0.000000	T	0.80602	0.4654	N	0.08118	0	0.53688	D	0.999973	P;P	0.51449	0.945;0.945	P;P	0.47206	0.541;0.541	D	0.85259	0.1049	10	0.87932	D	0	-9.5405	15.7349	0.77834	0.0:0.0:0.0:1.0	.	1482;1472	Q59HF8;P31327	.;CPSM_HUMAN	R	1478;1480;1472;1021	ENSP00000402608:L1478R;ENSP00000233072:L1472R;ENSP00000406136:L1021R	ENSP00000233072:L1472R	L	+	2	0	CPS1	211250866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.174000	0.77620	2.112000	0.64535	0.533000	0.62120	CTT	CPS1	-	superfamily_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	23	0	T			211542621	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	39.29	34	22	SNP	1.000	G	G	211542621	T	G	211542621	3	3	69	1	0	0	0	0	1	0	0	0	3830	1609	56	4	4587	4	CPS1	2	211542621	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	29991	211542621	31656752	39	18715											
ABCA12	26154	genome.wustl.edu	37	chr2	215884502	215884502	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacaaagaagttcggtcaAgtttcgaagttgagacagct	13	11	10	7	2	2	2	2	1	0	2	4	4	2	2	0	1	1	4	0	1	4	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:215884502A>C	ENST00000272895.7	-	12	1525	c.1306T>G	c.(1306-1308)Ttg>Gtg	p.L436V	ABCA12_ENST00000389661.4_Missense_Mutation_p.L118V|AC072062.3_ENST00000602182.1_RNA|AC072062.3_ENST00000437897.3_RNA|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000419251.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	436					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTCGGTCAAGTTTCGAAGT	0.368																																					Ovarian(66;664 1488 5121 34295)												0													46	47	46					2																	215884502		2203	4298	6501	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1306T>G	2.37:g.215884502A>C	ENSP00000272895:p.Leu436Val		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L436V	ENST00000272895.7	37	c.1306	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	11.55	1.671463	0.29693	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.52983	0.64;0.64	6.03	-0.69	0.11309	.	0.244029	0.28754	N	0.014258	T	0.24198	0.0586	N	0.14661	0.345	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.02837	-1.1104	10	0.48119	T	0.1	.	5.6404	0.17561	0.422:0.2766:0.3013:0.0	.	436;118	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	V	436;118	ENSP00000272895:L436V;ENSP00000374312:L118V	ENSP00000272895:L436V	L	-	1	2	ABCA12	215592747	0.980000	0.34600	0.993000	0.49108	0.998000	0.95712	0.570000	0.23653	0.156000	0.19299	0.533000	0.62120	TTG	ABCA12	-	NULL	ENSG00000144452		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	10	0	A	NM_173076		215884502	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.750	C	C	215884502	A	C	215884502	3	2	69	1	0	0	0	0	1	0	0	0	30	69	3	4	6649	4	ABCA12	2	215884502	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	4341881	215884502	27314871	40	18716											
HDLBP	3069	genome.wustl.edu	37	chr2	242179451	242179451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtgctgtcgcgcacCttgcgaattttgccgccccc	4	10	10	17	4	0	0	0	0	0	0	2	1	1	0	5	0	3	3	5	0	1	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr2:242179451C>A	ENST00000391975.1	-	18	2483	c.2256G>T	c.(2254-2256)aaG>aaT	p.K752N	HDLBP_ENST00000427183.2_Missense_Mutation_p.K719N|HDLBP_ENST00000310931.4_Missense_Mutation_p.K752N|HDLBP_ENST00000391976.2_Missense_Mutation_p.K752N	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	752	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGTCGCGCACCTTGCGAATTT	0.557																																																	0													170	158	162					2																	242179451		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2256G>T	2.37:g.242179451C>A	ENSP00000375836:p.Lys752Asn		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.K752N	ENST00000391975.1	37	c.2256	CCDS2547.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.29|17.29|17.29	3.351051|3.351051|3.351051	0.61183|0.61183|0.61183	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000427487	.|T;T;T;T;T|.	.|0.30448|.	.|1.53;1.53;1.53;1.53;1.77|.	5.59|5.59|5.59	0.606|0.606|0.606	0.17559|0.17559|0.17559	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.62270|0.62270|0.62270	0.2414|0.2414|0.2414	M|M|M	0.68593|0.68593|0.68593	2.085|2.085|2.085	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;P|.	.|0.76494|.	.|0.999;0.925|.	.|D;P|.	.|0.78314|.	.|0.991;0.891|.	T|T|T	0.57112|0.57112|0.57112	-0.7867|-0.7867|-0.7867	5|10|5	.|0.59425|.	.|D|.	.|0.04|.	-24.3532|-24.3532|-24.3532	10.1125|10.1125|10.1125	0.42572|0.42572|0.42572	0.0:0.4837:0.0:0.5163|0.0:0.4837:0.0:0.5163|0.0:0.4837:0.0:0.5163	.|.|.	.|719;752|.	.|E7EM71;Q00341|.	.|.;VIGLN_HUMAN|.	C|N|M	561|752;752;752;719;261|154	.|ENSP00000375836:K752N;ENSP00000375837:K752N;ENSP00000312042:K752N;ENSP00000399139:K719N;ENSP00000388876:K261N|.	.|ENSP00000312042:K752N|.	G|K|R	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241828124|241828124|241828124	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.037000|0.037000|0.037000	0.18230|0.18230|0.18230	0.614000|0.614000|0.614000	0.37383|0.37383|0.37383	2.156000|2.156000|2.156000	0.42310|0.42310|0.42310	-0.168000|-0.168000|-0.168000	0.10853|0.10853|0.10853	-0.145000|-0.145000|-0.145000	0.13849|0.13849|0.13849	GGT|AAG|AGG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5		0	26	0	C	NM_203346		242179451	-1			no_errors	ENST00000310931	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A	A	242179451	C	A	242179451	3	1	69	1	0	0	0	0	1	0	0	0	7052	680	24	3	1594	3	HDLBP	2	242179451	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	26294949	242179451	1019922	41	18717											
SEC13	6396	genome.wustl.edu	37	chr3	10354308	10354308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcttctcccaggtgcCgttttcctctctccagataa	5	14	8	14	1	3	1	0	0	3	1	7	1	5	1	4	2	1	2	4	2	1	4	rs137884718		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:10354308C>T	ENST00000350697.3	-	4	396	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	SEC13_ENST00000397109.3_Missense_Mutation_p.G77S|SEC13_ENST00000397117.1_Missense_Mutation_p.G77S|SEC13_ENST00000337354.4_Missense_Mutation_p.G94S|SEC13_ENST00000383801.2_Missense_Mutation_p.G137S	NM_183352.1	NP_899195.1	P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	91					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TCCCAGGTGCCGTTTTCCTCT	0.582																																																	0								C	SER/GLY,SER/GLY	2,4404	4.2+/-10.8	0,2,2201	133	135	134		229,271	4.9	0.9	3	dbSNP_134	134	0,8600		0,0,4300	no	missense,missense	SEC13	NM_001136232.1,NM_183352.1	56,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	77/309,91/323	10354308	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS2599.1, CCDS46751.1, CCDS63540.1	3p25-p24	2013-01-10	2006-11-07	2006-11-07	ENSG00000157020	ENSG00000157020		"WD repeat domain containing"	10697	protein-coding gene	gene with protein product		600152	"SEC13 (S. cerevisiae)-like 1", "SEC13-like 1 (S. cerevisiae)"	D3S1231E, SEC13L1		7987303	Standard	NM_183352		Approved	SEC13R, npp-20	uc003bvn.3	P55735	OTTHUMG00000128671	ENST00000350697.3:c.271G>A	3.37:g.10354308C>T	ENSP00000312122:p.Gly91Ser		A8MV37|B4DXJ1|Q5BJF0|Q9BRM6|Q9BUG7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G91S	ENST00000350697.3	37	c.271	CCDS2599.1	3	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345881	0.61073	4.54E-4	0.0	ENSG00000157020	ENST00000397109;ENST00000337354;ENST00000350697;ENST00000397117;ENST00000383801;ENST00000397105	T;T;T;T;T	0.73363	-0.55;-0.55;-0.55;-0.39;-0.74	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.050329	0.85682	D	0.000000	T	0.65291	0.2677	L	0.56124	1.755	0.80722	D	1	P;B;B;B;B	0.46064	0.872;0.026;0.017;0.106;0.007	B;B;B;B;B	0.31547	0.132;0.009;0.033;0.016;0.016	T	0.70037	-0.4982	10	0.39692	T	0.17	.	15.6633	0.77206	0.0:1.0:0.0:0.0	.	91;91;77;137;91	A8MWR8;E9PHR5;A8MXL6;B4DXJ1;P55735	.;.;.;.;SEC13_HUMAN	S	77;94;91;77;137;91	ENSP00000380298:G77S;ENSP00000336566:G94S;ENSP00000312122:G91S;ENSP00000380306:G77S;ENSP00000373312:G137S	ENSP00000336566:G94S	G	-	1	0	SEC13	10329308	1.000000	0.71417	0.935000	0.37517	0.946000	0.59487	5.941000	0.70195	2.276000	0.75962	0.561000	0.74099	GGC	SEC13	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000157020		0.582	SEC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC13	HGNC	protein_coding	OTTHUMT00000250563.3	-	0	35	0	C			10354308	-1	tier1	rs137884718	no_errors	ENST00000350697	ensembl	human	known	74_37	missense	37.04	17	10	SNP	1.000	T	T	10354308	C	T	10354308	3	4	69	1	0	0	0	0	1	0	0	0	14025	652	23	1	721	1	SEC13	3	10354308	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09		10354308	187668122	42	18718											
SLC6A1	6529	genome.wustl.edu	37	chr3	11067497	11067497	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagatcttcttctcataCgggctgggcctggggtccct	5	11	11	14	1	3	1	1	0	3	1	5	1	4	1	3	4	1	1	3	4	1	3	rs144034291		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:11067497C>T	ENST00000287766.4	+	9	1309	c.888C>T	c.(886-888)taC>taT	p.Y296Y	SLC6A1_ENST00000536032.1_Silent_p.Y118Y	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	296					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TCTTCTCATACGGGCTGGGCC	0.532													C|||	1	0.000199681	0	0	5008	,	,		17698	0		0.001	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	108	110	109		888	-3.3	1	3	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	SLC6A1	NM_003042.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		296/600	11067497	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.888C>T	3.37:g.11067497C>T			Q8N4K8	Silent	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport	p.Y296	ENST00000287766.4	37	c.888	CCDS2603.1	3																																																																																			SLC6A1	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000157103		0.532	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	-	0	44	0	C	NM_003042		11067497	1	tier1	rs144034291	no_errors	ENST00000287766	ensembl	human	known	74_37	silent	26.83	30	11	SNP	0.759	T	T	11067497	C	T	11067497	2	4	69	1	0	0	0	0	0	0	0	1	14718	547	19	1		1	SLC6A1	3	11067497	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	713189	11067497	186954933	43	18719											
LRRFIP2	9209	genome.wustl.edu	37	chr3	37100291	37100291	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacctactctgcatttcGatgaactgcaagtctgagcc	9	12	9	11	1	2	2	0	2	2	0	3	3	2	2	2	1	6	3	2	1	4	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:37100291G>T	ENST00000336686.4	-	25	1940	c.1860C>A	c.(1858-1860)atC>atA	p.I620I	LRRFIP2_ENST00000396428.2_Silent_p.I402I|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000421307.1_Silent_p.I620I|LRRFIP2_ENST00000440230.1_Silent_p.I323I|LRRFIP2_ENST00000354379.4_Silent_p.I299I|LRRFIP2_ENST00000421276.2_Silent_p.I323I			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	620					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCTGCATTTCGATGAACTGCA	0.512																																																	1	Whole gene deletion(1)	ovary(1)											138	117	124					3																	37100291		2203	4300	6503	SO:0001819	synonymous_variant	0			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1860C>A	3.37:g.37100291G>T			A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.I620	ENST00000336686.4	37	c.1860	CCDS2664.1	3																																																																																			LRRFIP2	-	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin	ENSG00000093167		0.512	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3		0	32	0	G	NM_006309		37100291	-1			no_errors	ENST00000336686	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	T	T	37100291	G	T	37100291	2	4	69	1	0	0	0	0	0	0	0	1	9063	1048	37	2		2	LRRFIP2	3	37100291	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	26032794	37100291	160922139	44	18720											
XCR1	2829	genome.wustl.edu	37	chr3	46062567	46062567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgtgtgcggaacttgacCcccacgaagacatagagcac	12	6	12	11	2	0	3	0	1	0	2	0	5	0	4	2	2	3	1	2	2	3	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:46062567C>T	ENST00000309285.3	-	2	1229	c.873G>A	c.(871-873)ggG>ggA	p.G291G	XCR1_ENST00000542109.1_Silent_p.G291G	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	291					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGAACTTGACCCCCACGAAGA	0.612																																																	0													75	78	77					3																	46062567		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"GPCR / Class A : Chemokine receptors : X-C motif"	1625	protein-coding gene	gene with protein product		600552	"chemokine (C motif) XC receptor 1"	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.873G>A	3.37:g.46062567C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.G291	ENST00000309285.3	37	c.873	CCDS2736.1	3																																																																																			XCR1	-	prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	ENSG00000173578		0.612	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	-	0	54	0	C			46062567	-1	tier1	-	no_errors	ENST00000309285	ensembl	human	known	74_37	silent	13.64	57	9	SNP	0.986	T	T	46062567	C	T	46062567	2	4	69	1	0	0	0	0	0	0	0	1	17474	610	22	3		3	XCR1	3	46062567	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	8962276	46062567	151959863	45	18721											
NBEAL2	23218	genome.wustl.edu	37	chr3	47040460	47040460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccccaggcggtgggtgcGctggacctgctgctggccct	3	8	15	15	2	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	0	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:47040460G>A	ENST00000450053.3	+	24	3575	c.3396G>A	c.(3394-3396)gcG>gcA	p.A1132A	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_De_novo_Start_InFrame	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1132					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGGTGGGTGCGCTGGACCTGC	0.662											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	44	41					3																	47040460		2171	4249	6420	SO:0001819	synonymous_variant	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3396G>A	3.37:g.47040460G>A		943	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1132	ENST00000450053.3	37	c.3396	CCDS46817.1	3																																																																																			NBEAL2	-	NULL	ENSG00000160796		0.662	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	84	0	G	XM_291064		47040460	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	silent	8.33	99	9	SNP	0.000	A	A	47040460	G	A	47040460	2	1	69	1	0	0	0	0	0	0	0	1	10227	1074	38	1		1	NBEAL2	3	47040460	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	977893	47040460	150981970	46	18722											
CACNA2D3	55799	genome.wustl.edu	37	chr3	54798378	54798378	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttacattgacagcacTgtgagtccacggggccctgg	9	8	13	11	1	0	2	0	2	0	0	1	3	1	2	2	3	3	2	2	3	2	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:54798378T>C	ENST00000474759.1	+	13	1428	c.1380T>C	c.(1378-1380)acT>acC	p.T460T	CACNA2D3_ENST00000415676.2_Splice_Site_p.T460T|CACNA2D3_ENST00000288197.5_Splice_Site_p.T460T|CACNA2D3_ENST00000490478.1_Splice_Site_p.T366T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	460	Cache.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TTGACAGCACTGTGAGTCCAC	0.483																																																	0													90	87	88					3																	54798378		2014	4175	6189	SO:0001630	splice_region_variant	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1380+1T>C	3.37:g.54798378T>C			B2RPL6|Q9NY16|Q9NY18	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T460	ENST00000474759.1	37	c.1380	CCDS54598.1	3																																																																																			CACNA2D3	-	pfam_Cache_domain	ENSG00000157445		0.483	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	-	0	44	0	T		Silent	54798378	1	tier1	-	no_errors	ENST00000288197	ensembl	human	known	74_37	silent	40.00	30	20	SNP	0.990	C	C	54798378	T	C	54798378	5	2	69	1	0	0	0	0	0	0	1	0	2557	1594	55	4	1430	4	CACNA2D3	3	54798378	Splice_Site	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	7757918	54798378	143224052	47	18723											
FAM19A1	407738	genome.wustl.edu	37	chr3	68466475	68466475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcacaccgatgttgtaacaAgaatcgcattgaggagcggt	13	8	12	8	3	0	2	0	1	0	1	1	4	0	3	1	2	3	4	1	2	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:68466475A>G	ENST00000478136.1	+	3	654	c.164A>G	c.(163-165)aAg>aGg	p.K55R	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.K55R	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	55						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGTTGTAACAAGAATCGCATT	0.473																																																	0													132	128	129					3																	68466475		1955	4137	6092	SO:0001583	missense	0			AY325114	CCDS54606.1	3p14.1	2005-01-20			ENSG00000183662	ENSG00000183662			21587	protein-coding gene	gene with protein product						15028294	Standard	NM_213609		Approved	TAFA-1	uc003dnd.3	Q7Z5A9	OTTHUMG00000158745	ENST00000478136.1:c.164A>G	3.37:g.68466475A>G	ENSP00000418575:p.Lys55Arg		A8K0V3|Q8TCL8	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.K55R	ENST00000478136.1	37	c.164	CCDS54606.1	3	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111645	0.77210	.	.	ENSG00000183662	ENST00000478136;ENST00000496687	.	.	.	5.67	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.31065	0.9	0.36620	D	0.875703	D	0.59767	0.986	P	0.56612	0.802	T	0.53885	-0.8375	9	0.22706	T	0.39	.	11.7609	0.51903	0.9311:0.0:0.0689:0.0	.	55	Q7Z5A9	F19A1_HUMAN	R	55	.	ENSP00000418575:K55R	K	+	2	0	FAM19A1	68549165	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	1.085000	0.41206	0.482000	0.46254	AAG	FAM19A1	-	pfam_Chemokine-like_FAM19A2	ENSG00000183662		0.473	FAM19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A1	HGNC	protein_coding	OTTHUMT00000352004.1	-	0	28	0	A	NM_213609		68466475	1	tier1	-	no_errors	ENST00000478136	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	G	G	68466475	A	G	68466475	3	3	69	1	0	0	0	0	1	0	0	0	5550	72	3	4	170	4	FAM19A1	3	68466475	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	13668097	68466475	129555955	48	18724											
ROBO2	6092	genome.wustl.edu	37	chr3	77542488	77542488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaaggagatcctcaacCaactgtgaggtggaaaaagg	15	6	12	8	0	1	2	1	1	0	1	3	4	3	3	3	4	2	0	3	4	5	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:77542488C>A	ENST00000461745.1	+	5	1661	c.761C>A	c.(760-762)cCa>cAa	p.P254Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.P270Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.P254Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	254	Ig-like C2-type 3.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GATCCTCAACCAACTGTGAGG	0.418																																																	0													117	110	112					3																	77542488		1902	4143	6045	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.761C>A	3.37:g.77542488C>A	ENSP00000417164:p.Pro254Gln		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P254Q	ENST00000461745.1	37	c.761	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992617	0.93167	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.73469	-0.75;-0.75;-0.75	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43747	U	0.000522	D	0.93184	0.7829	H	0.99475	4.585	0.47819	D	0.999522	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.95590	0.8654	9	0.87932	D	0	.	20.2267	0.98341	0.0:1.0:0.0:0.0	.	270;254;254	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	270;270;270;254;254	ENSP00000417335:P270Q;ENSP00000417164:P254Q;ENSP00000327536:P254Q	ENSP00000327536:P254Q	P	+	2	0	ROBO2	77625178	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.762000	0.85270	2.791000	0.96007	0.491000	0.48974	CCA	ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000185008		0.418	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	26	0	C	XM_031246		77542488	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	A	A	77542488	C	A	77542488	3	1	69	1	0	0	0	0	1	0	0	0	13559	594	21	3	781	3	ROBO2	3	77542488	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	9076013	77542488	120479942	49	18725											
OR5K3	403277	genome.wustl.edu	37	chr3	98110010	98110010	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtttctgttgaggttaacTttctgtgggtctcatcaaat	8	17	10	6	0	4	1	2	1	3	0	5	2	4	1	0	2	1	3	0	2	2	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:98110010T>C	ENST00000383695.1	+	1	501	c.501T>C	c.(499-501)acT>acC	p.T167T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGAGGTTAACTTTCTGTGGGT	0.383																																																	0													156	152	153					3																	98110010		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.501T>C	3.37:g.98110010T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T167	ENST00000383695.1	37	c.501	CCDS33803.1	3																																																																																			OR5K3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000206536		0.383	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	HGNC	protein_coding	OTTHUMT00000359110.1	-	0	75	0	T			98110010	1	tier1	-	no_errors	ENST00000383695	ensembl	human	known	74_37	silent	40.34	71	48	SNP	0.061	C	C	98110010	T	C	98110010	2	2	69	1	0	0	0	0	0	0	0	1	11207	1596	56	4		4	OR5K3	3	98110010	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	20567522	98110010	99912420	50	18726											
DRD3	1814	genome.wustl.edu	37	chr3	113850244	113850244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccgggtcaggagagaGggtctgcaggtgtgacaaga	10	7	18	6	1	2	3	1	1	1	2	2	5	2	4	1	4	2	1	1	4	1	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:113850244G>A	ENST00000460779.1	-	7	1016	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	DRD3_ENST00000467632.1_Missense_Mutation_p.L243F|DRD3_ENST00000295881.7_Missense_Mutation_p.L243F|DRD3_ENST00000383673.2_Missense_Mutation_p.L243F	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	243					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCAGGAGAGAGGGTCTGCAGG	0.507																																																	0													91	96	94					3																	113850244		2203	4300	6503	SO:0001583	missense	0				CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"GPCR / Class A : Dopamine receptors"	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.727C>T	3.37:g.113850244G>A	ENSP00000419402:p.Leu243Phe		A1A4V5|Q4VBM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.L243F	ENST00000460779.1	37	c.727	CCDS2978.1	3	.	.	.	.	.	.	.	.	.	.	G	7.475	0.647438	0.14516	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000281274;ENST00000295881	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.67	5.64	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	1.695290	0.02965	N	0.143709	T	0.70185	0.3195	L	0.31371	0.925	0.28314	N	0.922552	B;P;B;B	0.36144	0.089;0.539;0.283;0.406	B;B;B;B	0.36766	0.116;0.232;0.226;0.232	T	0.61715	-0.7006	10	0.54805	T	0.06	.	13.6703	0.62420	0.0:0.0:0.8079:0.1921	.	243;243;243;243	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	F	243	ENSP00000419402:L243F;ENSP00000420662:L243F;ENSP00000373169:L243F;ENSP00000295881:L243F	ENSP00000281274:L243F	L	-	1	0	DRD3	115332934	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	3.349000	0.52217	2.937000	0.99478	0.650000	0.86243	CTC	DRD3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000151577		0.507	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD3	HGNC	protein_coding	OTTHUMT00000354699.1	-	0	62	0	G	NM_000796.3		113850244	-1	tier1	-	no_errors	ENST00000383673	ensembl	human	known	74_37	missense	8.33	76	7	SNP	0.620	A	A	113850244	G	A	113850244	3	1	69	1	0	0	0	0	1	0	0	0	4772	1000	35	3	483	3	DRD3	3	113850244	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	15740234	113850244	84172186	51	18727											
ITGB5	3693	genome.wustl.edu	37	chr3	124483298	124483298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaaactccctccggtcgtgGatggtgacaagcagcttcca	9	8	11	13	2	0	1	0	1	0	0	4	2	3	2	3	3	3	3	3	3	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:124483298G>A	ENST00000296181.4	-	14	2540	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	748					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCCGGTCGTGGATGGTGACAA	0.562																																																	0													75	67	70					3																	124483298		2203	4300	6503	SO:0001819	synonymous_variant	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2244C>T	3.37:g.124483298G>A			B0LPF8|B2RD70	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.I748	ENST00000296181.4	37	c.2244	CCDS3030.1	3																																																																																			ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom,prints_Integrin_bsu	ENSG00000082781		0.562	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3	-	0	28	0	G	NM_002213		124483298	-1	tier1	-	no_errors	ENST00000296181	ensembl	human	known	74_37	silent	22.22	42	12	SNP	1.000	A	A	124483298	G	A	124483298	2	1	69	1	0	0	0	0	0	0	0	1	7925	1164	41	3		3	ITGB5	3	124483298	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	10633054	124483298	73539132	52	18728											
CCDC37	348807	genome.wustl.edu	37	chr3	126135332	126135332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccgcgactacacgacctgGaagctcaccttgaccaaagg	11	7	9	14	3	1	1	1	1	0	0	2	4	2	2	4	2	2	1	4	2	3	3	rs142615985	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:126135332G>T	ENST00000352312.1	+	5	498	c.399G>T	c.(397-399)tgG>tgT	p.W133C	CCDC37_ENST00000393425.1_Missense_Mutation_p.W133C|CCDC37_ENST00000505024.1_Missense_Mutation_p.W133C	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	133										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACACGACCTGGAAGCTCACCT	0.716																																																	0													13	15	14					3																	126135332		2192	4287	6479	SO:0001583	missense	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.399G>T	3.37:g.126135332G>T	ENSP00000344749:p.Trp133Cys		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C	p.W133C	ENST00000352312.1	37	c.399	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840649	0.32513	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.33216	1.42;1.42;1.42	4.07	4.07	0.47477	.	0.161638	0.44483	D	0.000460	T	0.36468	0.0968	M	0.63843	1.955	0.80722	D	1	D;P	0.53885	0.963;0.938	P;B	0.48368	0.575;0.371	T	0.13764	-1.0497	10	0.37606	T	0.19	-4.0694	11.5991	0.50993	0.0:0.0:1.0:0.0	.	133;133	Q494V2-2;Q494V2	.;CCD37_HUMAN	C	133	ENSP00000344749:W133C;ENSP00000377076:W133C;ENSP00000423046:W133C	ENSP00000344749:W133C	W	+	3	0	CCDC37	127618022	1.000000	0.71417	0.994000	0.49952	0.030000	0.12068	5.205000	0.65186	2.102000	0.63906	0.491000	0.48974	TGG	CCDC37	-	NULL	ENSG00000163885		0.716	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4		0	27	0	G	NM_182628		126135332	1			no_errors	ENST00000393425	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.998	T	T	126135332	G	T	126135332	3	4	69	1	0	0	0	0	1	0	0	0	2816	1183	41	3	413	3	CCDC37	3	126135332	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1652034	126135332	71887098	53	18729											
FOXL2	668	genome.wustl.edu	37	chr3	138665331	138665331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtactggtagatgccGgacagcgtgagcctcttctc	8	11	12	10	2	2	3	0	2	2	1	3	4	2	4	2	2	4	2	2	2	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:138665331G>A	ENST00000330315.3	-	1	651	c.234C>T	c.(232-234)tcC>tcT	p.S78S	RP11-548O1.3_ENST00000495287.1_lincRNA|C3orf72_ENST00000383165.3_5'Flank	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	78					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						GGTAGATGCCGGACAGCGTGA	0.607			Mis		granulosa-cell tumour of the ovary		"Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"																																	Dom	yes		3	3q23	668	forkhead box L2	yes	O	0													61	68	66					3																	138665331		2203	4300	6503	SO:0001819	synonymous_variant	0			AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"Forkhead boxes"	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.234C>T	3.37:g.138665331G>A			Q4ZGJ3	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S78	ENST00000330315.3	37	c.234	CCDS3105.1	3																																																																																			FOXL2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000183770		0.607	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXL2	HGNC	protein_coding	OTTHUMT00000357999.1	-	0	48	0	G			138665331	-1	tier1	-	no_errors	ENST00000330315	ensembl	human	known	74_37	silent	28.57	50	20	SNP	0.993	A	A	138665331	G	A	138665331	2	1	69	1	0	0	0	0	0	0	0	1	6041	1103	39	1		1	FOXL2	3	138665331	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	12529999	138665331	59357099	54	18730											
TRIM42	287015	genome.wustl.edu	37	chr3	140407130	140407130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagcacatataccagcgaAgctcctccatgttgtccttc	10	10	6	15	1	0	0	0	0	0	0	4	1	3	0	5	0	4	3	5	0	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:140407130A>G	ENST00000286349.3	+	3	1797	c.1606A>G	c.(1606-1608)Agc>Ggc	p.S536G		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	536						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATACCAGCGAAGCTCCTCCAT	0.592																																																	0													93	84	87					3																	140407130		2203	4300	6503	SO:0001583	missense	0			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"Tripartite motif containing / Tripartite motif containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	19014	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 40"		"tripartite motif-containing 42"				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1606A>G	3.37:g.140407130A>G	ENSP00000286349:p.Ser536Gly		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.S536G	ENST00000286349.3	37	c.1606	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839831	0.51057	.	.	ENSG00000155890	ENST00000286349	T	0.40756	1.02	5.52	5.52	0.82312	.	0.073732	0.64402	D	0.000020	T	0.28466	0.0704	L	0.27053	0.805	0.31404	N	0.67632	P	0.38767	0.646	B	0.35770	0.21	T	0.28332	-1.0047	10	0.22109	T	0.4	-27.9829	12.3166	0.54960	1.0:0.0:0.0:0.0	.	536	Q8IWZ5	TRI42_HUMAN	G	536	ENSP00000286349:S536G	ENSP00000286349:S536G	S	+	1	0	TRIM42	141889820	0.990000	0.36364	1.000000	0.80357	0.840000	0.47671	5.424000	0.66464	2.234000	0.73211	0.533000	0.62120	AGC	TRIM42	-	NULL	ENSG00000155890		0.592	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	-	0	27	0	A	NM_152616		140407130	1	tier1	-	no_errors	ENST00000286349	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	G	G	140407130	A	G	140407130	3	3	69	1	0	0	0	0	1	0	0	0	16565	72	3	4	1616	4	TRIM42	3	140407130	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	1741799	140407130	57615300	55	18731											
ZIC1	7545	genome.wustl.edu	37	chr3	147128795	147128795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgcgtgcacacgggcgAgaagccctttccctgcccct	6	7	10	18	4	0	1	0	0	0	1	2	2	2	1	5	1	3	1	5	1	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:147128795A>G	ENST00000282928.4	+	1	1625	c.896A>G	c.(895-897)gAg>gGg	p.E299G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	299					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CACACGGGCGAGAAGCCCTTT	0.557																																																	0													90	94	93					3																	147128795		2203	4300	6503	SO:0001583	missense	0			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"Zinc fingers, C2H2-type"	12872	protein-coding gene	gene with protein product		600470	"Zic family member 1 (odd-paired Drosophila homolog)", "Zic family member 1 (odd-paired homolog, Drosophila)"			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.896A>G	3.37:g.147128795A>G	ENSP00000282928:p.Glu299Gly		Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E299G	ENST00000282928.4	37	c.896	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	A	19.87	3.906534	0.72868	.	.	ENSG00000152977	ENST00000282928	D	0.91407	-2.84	3.89	3.89	0.44902	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	M	0.64567	1.98	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	D	0.94208	0.7456	10	0.87932	D	0	.	12.9855	0.58590	1.0:0.0:0.0:0.0	.	299	Q15915	ZIC1_HUMAN	G	299	ENSP00000282928:E299G	ENSP00000282928:E299G	E	+	2	0	ZIC1	148611485	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.998000	0.93550	1.517000	0.48917	0.459000	0.35465	GAG	ZIC1	-	pfscan_Znf_C2H2	ENSG00000152977		0.557	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	-	0	47	0	A	NM_003412		147128795	1	tier1	-	no_errors	ENST00000282928	ensembl	human	known	74_37	missense	22.08	60	17	SNP	1.000	G	G	147128795	A	G	147128795	3	3	69	1	0	0	0	0	1	0	0	0	17726	304	11	4	898	4	ZIC1	3	147128795	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	6721665	147128795	50893635	56	18732											
SUCNR1	56670	genome.wustl.edu	37	chr3	151599113	151599113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggatcgcttcacgcctggGgagttggaagcagtatcagt	9	9	15	8	2	2	0	2	0	0	0	3	4	2	3	1	4	1	4	1	4	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:151599113G>A	ENST00000362032.5	+	3	887	c.782G>A	c.(781-783)gGg>gAg	p.G261E	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	261						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TCACGCCTGGGGAGTTGGAAG	0.488																																																	0													221	196	204					3																	151599113		2203	4300	6503	SO:0001583	missense	0			AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"GPCR / Class A : Orphans"	4542	protein-coding gene	gene with protein product		606381	"G protein-coupled receptor 91"	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.782G>A	3.37:g.151599113G>A	ENSP00000355156:p.Gly261Glu		A8K305|Q8TDQ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G261E	ENST00000362032.5	37	c.782	CCDS3162.1	3	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.290887	0.00248	.	.	ENSG00000198829	ENST00000362032	T	0.71222	-0.55	5.46	-6.98	0.01611	GPCR, rhodopsin-like superfamily (1);	2.141030	0.02196	N	0.061795	T	0.40932	0.1137	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53158	-0.8478	10	0.02654	T	1	.	9.2348	0.37459	0.7231:0.0926:0.0985:0.0857	.	261	Q9BXA5	SUCR1_HUMAN	E	261	ENSP00000355156:G261E	ENSP00000355156:G261E	G	+	2	0	SUCNR1	153081803	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.436000	0.06922	-1.204000	0.02648	-0.911000	0.02809	GGG	SUCNR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198829		0.488	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCNR1	HGNC	protein_coding	OTTHUMT00000357897.2	-	0	83	0	G	NM_033050		151599113	1	tier1	-	no_errors	ENST00000362032	ensembl	human	known	74_37	missense	16.67	120	24	SNP	0.000	A	A	151599113	G	A	151599113	3	1	69	1	0	0	0	0	1	0	0	0	15413	1232	43	3	788	3	SUCNR1	3	151599113	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	4470318	151599113	46423317	57	18733											
PIK3CA	5290	genome.wustl.edu	37	chr3	178947851	178947851	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatactgtgtagctacctTcattttgggaattggagatc	9	15	11	6	0	1	1	1	0	0	1	2	4	1	3	1	3	3	2	1	3	4	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr3:178947851T>G	ENST00000263967.3	+	19	2883	c.2726T>G	c.(2725-2727)tTc>tGc	p.F909C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	909	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAGCTACCTTCATTTTGGGA	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	0													199	187	191					3																	178947851		1900	4124	6024	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2726T>G	3.37:g.178947851T>G	ENSP00000263967:p.Phe909Cys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.F909C	ENST00000263967.3	37	c.2726	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007111	0.75046	.	.	ENSG00000121879	ENST00000263967	T	0.76316	-1.01	5.61	4.44	0.53790	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.84986	0.5594	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.84652	0.0701	10	0.52906	T	0.07	-12.9985	12.0397	0.53446	0.1294:0.0:0.0:0.8706	.	909	P42336	PK3CA_HUMAN	C	909	ENSP00000263967:F909C	ENSP00000263967:F909C	F	+	2	0	PIK3CA	180430545	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	7.611000	0.82962	0.939000	0.37446	0.477000	0.44152	TTC	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	70	0	T			178947851	1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	17.50	99	21	SNP	1.000	G	G	178947851	T	G	178947851	3	3	69	1	0	0	0	0	1	0	0	0	11952	1783	62	4	2796	4	PIK3CA	3	178947851	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	27348738	178947851	19074579	58	18734											
EVC2	132884	genome.wustl.edu	37	chr4	5624676	5624676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatcctcaaccgttcggaAggcctcgccgacggacgcct	7	6	12	16	6	1	0	1	0	0	0	4	3	2	2	5	4	1	2	5	4	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:5624676A>G	ENST00000344408.5	-	14	2142	c.2089T>C	c.(2089-2091)Ttc>Ctc	p.F697L	EVC2_ENST00000344938.1_Missense_Mutation_p.F697L|EVC2_ENST00000310917.2_Missense_Mutation_p.F617L	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	697					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACCGTTCGGAAGGCCTCGCCG	0.617																																																	0													47	52	50					4																	5624676		2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2089T>C	4.37:g.5624676A>G	ENSP00000342144:p.Phe697Leu		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.F697L	ENST00000344408.5	37	c.2089	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.671247	0.00758	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73047	-0.71;-0.7;-0.71	5.0	-1.63	0.08345	.	0.649045	0.15872	N	0.240469	T	0.37073	0.0990	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19745	-1.0296	10	0.08599	T	0.76	-1.258	2.4074	0.04416	0.5346:0.2225:0.0882:0.1547	.	697	Q86UK5	LBN_HUMAN	L	697;617;697	ENSP00000339954:F697L;ENSP00000311683:F617L;ENSP00000342144:F697L	ENSP00000311683:F617L	F	-	1	0	EVC2	5675577	0.006000	0.16342	0.016000	0.15963	0.026000	0.11368	0.308000	0.19314	-0.070000	0.12908	0.260000	0.18958	TTC	EVC2	-	NULL	ENSG00000173040		0.617	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0	23	0	A	NM_147127		5624676	-1			no_errors	ENST00000344408	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.001	G	G	5624676	A	G	5624676	3	3	69	1	0	0	0	0	1	0	0	0	5302	72	3	4	1873	4	EVC2	4	5624676	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		5624676	185529600	59	18735											
MAN2B2	23324	genome.wustl.edu	37	chr4	6596426	6596426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtcacctggcgtgtcCgcgaccaccacgacttcctg	7	9	9	16	4	2	0	2	0	0	0	4	2	4	0	5	1	0	0	5	1	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:6596426C>T	ENST00000285599.3	+	7	1060	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R291C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	342					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTGGCGTGTCCGCGACCACCA	0.617																																																	0													89	69	76					4																	6596426		2203	4300	6503	SO:0001583	missense	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1024C>T	4.37:g.6596426C>T	ENSP00000285599:p.Arg342Cys		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R342C	ENST00000285599.3	37	c.1024	CCDS33951.1	4	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086804	0.36855	.	.	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.74947	-0.89;-0.89	4.43	3.59	0.41128	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.494387	0.18823	N	0.130186	D	0.84547	0.5496	M	0.86178	2.8	0.09310	N	0.999991	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.74674	0.984;0.943;0.785	T	0.74432	-0.3667	10	0.87932	D	0	-3.4131	6.5413	0.22382	0.2974:0.6134:0.0:0.0892	.	291;342;342	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	342;291	ENSP00000285599:R342C;ENSP00000423129:R291C	ENSP00000285599:R342C	R	+	1	0	MAN2B2	6647327	0.000000	0.05858	0.002000	0.10522	0.449000	0.32228	0.810000	0.27183	0.859000	0.35456	0.472000	0.43445	CGC	MAN2B2	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.617	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	-	0	55	0	C	NM_015274		6596426	1	tier1	-	no_errors	ENST00000285599	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.002	T	T	6596426	C	T	6596426	3	4	69	1	0	0	0	0	1	0	0	0	9255	652	23	1	1050	1	MAN2B2	4	6596426	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	971750	6596426	184557850	60	18736											
ZNF518B	85460	genome.wustl.edu	37	chr4	10446830	10446830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctccattatccctccCagcttcaaggcaattatttt	10	15	3	13	0	1	0	1	0	0	0	4	0	4	0	4	1	2	2	4	1	5	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:10446830C>A	ENST00000326756.3	-	3	1561	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	375					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTATCCCTCCCAGCTTCAAGG	0.398																																																	0													167	172	170					4																	10446830		2203	4300	6503	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1123G>T	4.37:g.10446830C>A	ENSP00000317614:p.Gly375Trp		Q96LN8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G375W	ENST00000326756.3	37	c.1123	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464363	0.63513	.	.	ENSG00000178163	ENST00000326756	T	0.01767	4.65	6.17	-1.48	0.08745	.	0.792060	0.10937	N	0.617694	T	0.03651	0.0104	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.58577	0.841	T	0.40194	-0.9576	10	0.87932	D	0	-2.0608	10.843	0.46726	0.0:0.4473:0.0:0.5527	.	375	Q9C0D4	Z518B_HUMAN	W	375	ENSP00000317614:G375W	ENSP00000317614:G375W	G	-	1	0	ZNF518B	10055928	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.282000	0.08445	-0.688000	0.05155	-0.150000	0.13652	GGG	ZNF518B	-	NULL	ENSG00000178163		0.398	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	HGNC	protein_coding	OTTHUMT00000359040.1	-	0	46	0	C	NM_053042		10446830	-1	tier1	-	no_errors	ENST00000326756	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.000	A	A	10446830	C	A	10446830	3	1	69	1	0	0	0	0	1	0	0	0	18011	594	21	3	2105	3	ZNF518B	4	10446830	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3850404	10446830	180707446	61	18737											
BOD1L	259282	genome.wustl.edu	37	chr4	13592067	13592067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttctgaagcctgaattttCaacctaaatatacaatataa	16	14	4	7	0	2	2	1	2	1	0	2	2	2	2	2	0	3	1	2	0	10	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:13592067C>G	ENST00000040738.5	-	14	8287	c.8152G>C	c.(8152-8154)Gaa>Caa	p.E2718Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2718						nucleus (GO:0005634)	DNA binding (GO:0003677)										CCTGAATTTTCAACCTAAATA	0.259																																																	0													16	18	17					4																	13592067		2168	4248	6416	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8152G>C	4.37:g.13592067C>G	ENSP00000040738:p.Glu2718Gln		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.E2718Q	ENST00000040738.5	37	c.8152	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	4.951	0.176759	0.09443	.	.	ENSG00000038219	ENST00000040738	T	0.07327	3.2	5.23	-1.45	0.08828	.	0.860272	0.10090	N	0.717309	T	0.05273	0.0140	N	0.24115	0.695	0.09310	N	0.999999	B	0.18013	0.025	B	0.16722	0.016	T	0.40156	-0.9578	10	0.48119	T	0.1	-2.5586	5.1609	0.15060	0.0:0.3424:0.1551:0.5025	.	2718	Q8NFC6	BOD1L_HUMAN	Q	2718	ENSP00000040738:E2718Q	ENSP00000040738:E2718Q	E	-	1	0	BOD1L	13201165	0.110000	0.22057	0.855000	0.33649	0.117000	0.20001	0.052000	0.14163	-0.021000	0.14009	0.650000	0.86243	GAA	BOD1L1	-	NULL	ENSG00000038219		0.259	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1		0	41	0	C	NM_148894		13592067	-1			no_errors	ENST00000040738	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.191	G	G	13592067	C	G	13592067	3	3	69	1	0	0	0	0	1	0	0	0	1485	835	29	5	1055	5	BOD1L	4	13592067	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3145237	13592067	177562209	62	18738											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73185073	73185073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatatcttttcagttcttgaCcactgcatcgggaccagtgg	8	14	9	10	1	3	1	1	1	2	0	4	2	3	2	2	2	1	2	2	2	2	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:73185073C>T	ENST00000286657.4	-	9	1364	c.1328G>A	c.(1327-1329)gGt>gAt	p.G443D		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	443	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGTTCTTGACCACTGCATCG	0.453																																					NSCLC(168;1941 2048 2918 13048 43078)												0													148	121	130					4																	73185073		2203	4300	6503	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1328G>A	4.37:g.73185073C>T	ENSP00000286657:p.Gly443Asp		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.G443D	ENST00000286657.4	37	c.1328	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040796	0.75732	.	.	ENSG00000156140	ENST00000286657	D	0.86432	-2.12	5.61	5.61	0.85477	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.27053	0.805	0.58432	D	0.999999	D	0.63880	0.993	D	0.66497	0.944	D	0.90518	0.4486	10	0.72032	D	0.01	.	20.0016	0.97412	0.0:1.0:0.0:0.0	.	443	O15072	ATS3_HUMAN	D	443	ENSP00000286657:G443D	ENSP00000286657:G443D	G	-	2	0	ADAMTS3	73403937	0.948000	0.32251	1.000000	0.80357	0.877000	0.50540	3.298000	0.51818	2.802000	0.96397	0.655000	0.94253	GGT	ADAMTS3	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000156140		0.453	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	-	0	65	0	C			73185073	-1	tier1	-	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	14.71	58	10	SNP	1.000	T	T	73185073	C	T	73185073	3	4	69	1	0	0	0	0	1	0	0	0	267	507	18	3	2345	3	ADAMTS3	4	73185073	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	59593006	73185073	117969203	63	18739											
BMP3	651	genome.wustl.edu	37	chr4	81952653	81952653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtacagcacggtccaggCggcccggacaccgggctccc	7	3	14	17	4	0	0	0	0	0	0	2	1	2	1	4	6	2	3	4	6	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:81952653C>T	ENST00000282701.2	+	1	535	c.215C>T	c.(214-216)gCg>gTg	p.A72V		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	72					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACGGTCCAGGCGGCCCGGACA	0.692																																																	0													19	22	21					4																	81952653		2198	4298	6496	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.215C>T	4.37:g.81952653C>T	ENSP00000282701:p.Ala72Val		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.A72V	ENST00000282701.2	37	c.215	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899340	0.33535	.	.	ENSG00000152785	ENST00000282701	T	0.65549	-0.16	3.53	0.816	0.18768	Transforming growth factor-beta, N-terminal (1);	0.442914	0.16765	N	0.200446	T	0.31513	0.0799	N	0.08118	0	0.09310	N	1	B	0.27559	0.181	B	0.18871	0.023	T	0.09751	-1.0660	10	0.27082	T	0.32	.	3.2403	0.06778	0.2094:0.574:0.0:0.2166	.	72	P12645	BMP3_HUMAN	V	72	ENSP00000282701:A72V	ENSP00000282701:A72V	A	+	2	0	BMP3	82171677	0.000000	0.05858	0.004000	0.12327	0.026000	0.11368	-0.207000	0.09384	0.136000	0.18733	0.561000	0.74099	GCG	BMP3	-	pfam_TGF-b_N,pirsf_BMP3/GDF10	ENSG00000152785		0.692	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	-	0	45	0	C			81952653	1	tier1	-	no_errors	ENST00000282701	ensembl	human	known	74_37	missense	32.73	37	18	SNP	0.006	T	T	81952653	C	T	81952653	3	4	69	1	0	0	0	0	1	0	0	0	1463	768	27	1	217	1	BMP3	4	81952653	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	8767580	81952653	109201623	64	18740											
GRID2	2895	genome.wustl.edu	37	chr4	93511341	93511341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttcgcactgcggttggtGaccttaaccagaatgaggag	10	11	12	8	2	0	3	0	2	0	1	1	4	0	4	2	3	2	2	2	3	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:93511341G>A	ENST00000282020.4	+	2	406	c.148G>A	c.(148-150)Gac>Aac	p.D50N	GRID2_ENST00000510992.1_Missense_Mutation_p.D50N|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	50					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TGCGGTTGGTGACCTTAACCA	0.373																																																	0													138	131	133					4																	93511341		2203	4300	6503	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.148G>A	4.37:g.93511341G>A	ENSP00000282020:p.Asp50Asn		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D50N	ENST00000282020.4	37	c.148	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902274	0.72754	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.86627	-2.15;-2.15	5.83	5.83	0.93111	Extracellular ligand-binding receptor (1);	0.165520	0.39274	N	0.001405	D	0.90448	0.7009	L	0.34521	1.04	0.41711	D	0.989455	D;D	0.69078	0.993;0.997	D;D	0.83275	0.971;0.996	D	0.88684	0.3204	10	0.33141	T	0.24	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	50;50	E9PH24;O43424	.;GRID2_HUMAN	N	50	ENSP00000282020:D50N;ENSP00000421257:D50N	ENSP00000282020:D50N	D	+	1	0	GRID2	93730364	1.000000	0.71417	0.967000	0.41034	0.946000	0.59487	9.869000	0.99810	2.757000	0.94681	0.563000	0.77884	GAC	GRID2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152208		0.373	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0	55	0	G			93511341	1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	missense	13.73	44	7	SNP	1.000	A	A	93511341	G	A	93511341	3	1	69	1	0	0	0	0	1	0	0	0	6799	1290	45	3	154	3	GRID2	4	93511341	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	11558688	93511341	97642935	65	18741											
GRID2	2895	genome.wustl.edu	37	chr4	94137897	94137897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttatcttataggaaataaaCgatgtggacgtacaggaact	15	11	9	6	2	1	0	0	0	1	0	1	4	1	3	0	3	3	1	0	3	8	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:94137897C>T	ENST00000282020.4	+	6	1056	c.798C>T	c.(796-798)aaC>aaT	p.N266N	GRID2_ENST00000510992.1_Silent_p.N171N|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	266					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		AGGAAATAAACGATGTGGACG	0.373																																																	0													107	104	105					4																	94137897		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.798C>T	4.37:g.94137897C>T			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N266	ENST00000282020.4	37	c.798	CCDS3637.1	4																																																																																			GRID2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000152208		0.373	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	-	0	56	0	C			94137897	1	tier1	-	no_errors	ENST00000282020	ensembl	human	known	74_37	silent	19.23	42	10	SNP	0.972	T	T	94137897	C	T	94137897	2	4	69	1	0	0	0	0	0	0	0	1	6799	535	19	1		1	GRID2	4	94137897	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	626556	94137897	97016379	66	18742											
PDHA2	5161	genome.wustl.edu	37	chr4	96761425	96761425	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattaagaaatgtgatcttTatctgttggaagagggtccc	13	13	10	5	0	2	3	0	1	2	2	3	4	3	4	1	2	0	1	1	2	5	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:96761425T>G	ENST00000295266.4	+	1	187	c.124T>G	c.(124-126)Tat>Gat	p.Y42D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	42					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATGTGATCTTTATCTGTTGGA	0.493																																																	0													56	57	56					4																	96761425		2203	4300	6503	SO:0001583	missense	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.124T>G	4.37:g.96761425T>G	ENSP00000295266:p.Tyr42Asp		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.Y42D	ENST00000295266.4	37	c.124	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	T	11.92	1.782049	0.31502	.	.	ENSG00000163114	ENST00000295266	D	0.97328	-4.34	4.74	-5.76	0.02376	.	0.296240	0.35436	N	0.003218	D	0.94142	0.8121	L	0.53249	1.67	0.09310	N	1	P	0.41710	0.76	B	0.44044	0.439	D	0.90180	0.4242	10	0.87932	D	0	-6.0138	8.9763	0.35937	0.0:0.4873:0.1177:0.395	.	42	P29803	ODPAT_HUMAN	D	42	ENSP00000295266:Y42D	ENSP00000295266:Y42D	Y	+	1	0	PDHA2	96980448	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.247000	0.18179	-1.323000	0.02275	-1.773000	0.00660	TAT	PDHA2	-	NULL	ENSG00000163114		0.493	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0	48	0	T			96761425	1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	29.63	38	16	SNP	0.000	G	G	96761425	T	G	96761425	3	3	69	1	0	0	0	0	1	0	0	0	11704	1754	61	4	126	4	PDHA2	4	96761425	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	2623528	96761425	94392851	67	18743											
FAT4	79633	genome.wustl.edu	37	chr4	126240637	126240637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacaagcttctgataaggAttcaggagcaaatggtgaaa	16	9	11	5	0	2	2	1	2	1	0	2	4	2	4	0	3	3	3	0	3	5	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:126240637A>G	ENST00000394329.3	+	1	3084	c.3071A>G	c.(3070-3072)gAt>gGt	p.D1024G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1024	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTGATAAGGATTCAGGAGCA	0.388																																																	0													96	88	91					4																	126240637		1845	4098	5943	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3071A>G	4.37:g.126240637A>G	ENSP00000377862:p.Asp1024Gly		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D1024G	ENST00000394329.3	37	c.3071	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360985	0.41801	.	.	ENSG00000196159	ENST00000394329	T	0.74632	-0.86	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.000000	0.35378	U	0.003259	D	0.91192	0.7225	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94331	0.7562	10	0.87932	D	0	.	14.9061	0.70721	1.0:0.0:0.0:0.0	.	1024	Q6V0I7	FAT4_HUMAN	G	1024	ENSP00000377862:D1024G	ENSP00000377862:D1024G	D	+	2	0	FAT4	126460087	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	8.949000	0.93012	2.100000	0.63781	0.533000	0.62120	GAT	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	24	0	A	NM_024582		126240637	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	G	G	126240637	A	G	126240637	3	3	69	1	0	0	0	0	1	0	0	0	5714	333	12	4	3073	4	FAT4	4	126240637	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	29479212	126240637	64913639	68	18744											
FAT4	79633	genome.wustl.edu	37	chr4	126373295	126373295	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggattttccaatgccacAgtggataacagcatcttact	11	12	8	10	0	1	0	0	0	1	0	2	2	2	2	2	2	4	2	2	2	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:126373295A>C	ENST00000394329.3	+	9	11137	c.11124A>C	c.(11122-11124)acA>acC	p.T3708T	FAT4_ENST00000335110.5_Silent_p.T2006T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3708					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAATGCCACAGTGGATAACA	0.458																																																	0													177	166	170					4																	126373295		2203	4300	6503	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.11124A>C	4.37:g.126373295A>C			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T3708	ENST00000394329.3	37	c.11124	CCDS3732.3	4																																																																																			FAT4	-	NULL	ENSG00000196159		0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	76	0	A	NM_024582		126373295	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	20.39	82	21	SNP	0.003	C	C	126373295	A	C	126373295	2	2	69	1	0	0	0	0	0	0	0	1	5714	175	7	4		4	FAT4	4	126373295	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	132658	126373295	64780981	69	18745											
FAT4	79633	genome.wustl.edu	37	chr4	126411990	126411990	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcccttaggagcaagcagTttgacttaccagccttcata	11	11	8	11	0	1	1	1	1	0	0	1	2	1	2	3	1	5	3	3	1	4	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:126411990T>G	ENST00000394329.3	+	17	14026	c.14013T>G	c.(14011-14013)agT>agG	p.S4671R	FAT4_ENST00000335110.5_Missense_Mutation_p.S2912R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4671					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGCAAGCAGTTTGACTTACC	0.532																																																	0													104	103	103					4																	126411990		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14013T>G	4.37:g.126411990T>G	ENSP00000377862:p.Ser4671Arg		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4671R	ENST00000394329.3	37	c.14013	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	T	7.843	0.722342	0.15439	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75704	-0.78;-0.96	4.46	-3.11	0.05299	.	0.000000	0.39985	U	0.001214	T	0.72423	0.3458	L	0.43152	1.355	0.44908	D	0.997922	P;P;D	0.55385	0.948;0.952;0.971	P;P;P	0.58454	0.779;0.694;0.839	T	0.68758	-0.5324	10	0.22706	T	0.39	.	12.0441	0.53469	0.0:0.5682:0.0:0.4318	.	2912;4671;4670	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	4671;2912	ENSP00000377862:S4671R;ENSP00000335169:S2912R	ENSP00000335169:S2912R	S	+	3	2	FAT4	126631440	0.968000	0.33430	0.603000	0.28903	0.870000	0.49936	0.087000	0.14958	-0.761000	0.04670	0.459000	0.35465	AGT	FAT4	-	NULL	ENSG00000196159		0.532	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	40	0	T	NM_024582		126411990	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.899	G	G	126411990	T	G	126411990	3	3	69	1	0	0	0	0	1	0	0	0	5714	1722	60	4	14079	4	FAT4	4	126411990	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	38695	126411990	64742286	70	18746											
LARP1B	55132	genome.wustl.edu	37	chr4	128999117	128999117	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtaatcaacgtaagagaGgtcagtttgtccatatcttt	13	13	8	7	1	3	1	2	0	1	1	4	2	4	1	1	1	1	3	1	1	5	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:128999117G>T	ENST00000326639.6	+	4	428	c.217G>T	c.(217-219)Gct>Tct	p.A73S	LARP1B_ENST00000394288.3_Splice_Site_p.A73S|LARP1B_ENST00000432347.2_Splice_Site_p.A73S|LARP1B_ENST00000264584.5_Splice_Site_p.G73C|LARP1B_ENST00000427266.1_Splice_Site_p.A73S|LARP1B_ENST00000441387.1_Splice_Site_p.A73S|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Splice_Site_p.A73S	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	73						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ACGTAAGAGAGGTCAGTTTGT	0.343																																																	0													107	101	103					4																	128999117		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"La ribonucleoprotein domain containing"	24704	protein-coding gene	gene with protein product			"La ribonucleoprotein domain family, member 2"	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.217+1G>T	4.37:g.128999117G>T			Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.A73S	ENST00000326639.6	37	c.217	CCDS3738.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.02|14.02|14.02	2.410607|2.410607|2.410607	0.42715|0.42715|0.42715	.|.|.	.|.|.	ENSG00000138709|ENSG00000138709|ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000394288;ENST00000432347;ENST00000441387;ENST00000427266|ENST00000508819;ENST00000264584|ENST00000507377	T;T;T;T;T;T|T;T|.	0.43688|0.34072|.	1.97;1.56;0.95;0.94;1.96;1.56|1.38;1.82|.	3.9|3.9|3.9	3.9|3.9|3.9	0.45041|0.45041|0.45041	.|.|.	0.169599|.|.	0.39834|.|.	N|.|.	0.001244|.|.	T|T|T	0.57917|0.57917|0.57917	0.2086|0.2086|0.2086	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;P;P;P|.|.	0.36837|.|.	0.488;0.571;0.571;0.571|.|.	B;B;B;B|.|.	0.33392|.|.	0.155;0.163;0.121;0.163|.|.	T|T|T	0.55198|0.55198|0.55198	-0.8178|-0.8178|-0.8178	10|7|5	0.29301|0.49607|.	T|T|.	0.29|0.09|.	.|.|.	14.2027|14.2027|14.2027	0.65714|0.65714|0.65714	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	73;73;73;73|.|.	Q659C4;G3XAJ5;Q659C4-3;G3V0E9|.|.	LAR1B_HUMAN;.;.;.|.|.	S|C|I	73|73|41	ENSP00000321997:A73S;ENSP00000422850:A73S;ENSP00000377829:A73S;ENSP00000390395:A73S;ENSP00000396521:A73S;ENSP00000403586:A73S|ENSP00000427281:G73C;ENSP00000264584:G73C|.	ENSP00000321997:A73S|ENSP00000264584:G73C|.	A|G|S	+|+|+	1|1|2	0|0|0	LARP1B|LARP1B|LARP1B	129218567|129218567|129218567	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.879000|0.879000|0.879000	0.50718|0.50718|0.50718	5.164000|5.164000|5.164000	0.64954|0.64954|0.64954	2.186000|2.186000|2.186000	0.69663|0.69663|0.69663	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	GCT|GGT|AGC	LARP1B	-	NULL	ENSG00000138709		0.343	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LARP1B	HGNC	protein_coding	OTTHUMT00000257173.2	-	0	34	0	G	NM_018078	Missense_Mutation	128999117	1	tier1	-	no_errors	ENST00000326639	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	128999117	G	T	128999117	5	4	69	1	0	0	0	0	0	0	1	0	8657	1014	35	3	223	3	LARP1B	4	128999117	Splice_Site	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2587127	128999117	62155159	71	18747											
TMEM184C	55751	genome.wustl.edu	37	chr4	148555367	148555367	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaattgtttcccgaggatCaagatcaaaatgaacataca	19	9	6	7	1	2	2	2	1	0	1	3	4	3	3	1	1	2	1	1	1	7	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:148555367C>T	ENST00000296582.3	+	10	1673	c.1099C>T	c.(1099-1101)Caa>Taa	p.Q367*	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	367						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCCCGAGGATCAAGATCAAAA	0.363																																																	0													68	64	65					4																	148555367		2203	4300	6503	SO:0001587	stop_gained	0			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1099C>T	4.37:g.148555367C>T	ENSP00000296582:p.Gln367*		D3DP04|Q86X84|Q969I7|Q9NXM2	Nonsense_Mutation	SNP	pfam_Ost-alpha	p.Q367*	ENST00000296582.3	37	c.1099	CCDS3770.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.064980	0.98635	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.55	3.74	0.42951	.	0.592787	0.19489	N	0.113035	.	.	.	.	.	.	0.22479	N	0.999063	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-11.4884	11.9019	0.52688	0.0:0.8093:0.1224:0.0683	.	.	.	.	X	367	.	ENSP00000296582:Q367X	Q	+	1	0	TMEM184C	148774817	0.809000	0.29036	0.983000	0.44433	0.956000	0.61745	2.343000	0.44001	1.481000	0.48307	0.561000	0.74099	CAA	TMEM184C	-	NULL	ENSG00000164168		0.363	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1		0	16	0	C	NM_018241		148555367	1			no_errors	ENST00000296582	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	0.177	T	T	148555367	C	T	148555367	4	4	69	1	0	0	0	0	0	1	0	0	16153	827	29	3	1137	3	TMEM184C	4	148555367	Nonsense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	19556250	148555367	42598909	72	18748											
KIAA0922	23240	genome.wustl.edu	37	chr4	154523312	154523312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttcccattagaactgaaaGacagtaagcaaattttatct	15	12	7	7	0	1	3	0	1	1	2	2	3	2	3	1	1	2	3	1	1	6	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:154523312G>C	ENST00000409663.3	+	22	2324	c.2272G>C	c.(2272-2274)Gac>Cac	p.D758H	KIAA0922_ENST00000409959.3_Missense_Mutation_p.D759H|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D675H	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	758						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGAACTGAAAGACAGTAAGCA	0.254																																																	0													41	43	43					4																	154523312		2196	4299	6495	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.2272G>C	4.37:g.154523312G>C	ENSP00000386574:p.Asp758His		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.D759H	ENST00000409663.3	37	c.2275	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936644	0.34189	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19250	2.43;2.16;2.43;2.17	5.81	5.81	0.92471	.	0.309545	0.39909	N	0.001237	T	0.42131	0.1189	L	0.46157	1.445	0.40846	D	0.983718	D;D;P	0.89917	1.0;0.998;0.521	D;D;B	0.78314	0.991;0.922;0.2	T	0.03121	-1.1070	10	0.33940	T	0.23	-27.9891	20.0804	0.97772	0.0:0.0:1.0:0.0	.	675;759;758	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	H	758;675;759;536	ENSP00000386574:D758H;ENSP00000409663:D675H;ENSP00000386787:D759H;ENSP00000240487:D536H	ENSP00000240487:D536H	D	+	1	0	KIAA0922	154742762	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.277000	0.65586	2.738000	0.93877	0.655000	0.94253	GAC	KIAA0922	-	NULL	ENSG00000121210		0.254	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	-	0	29	0	G	NM_015196		154523312	1	tier1	-	no_errors	ENST00000409959	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	C	C	154523312	G	C	154523312	3	2	69	1	0	0	0	0	1	0	0	0	8228	942	33	5	2361	5	KIAA0922	4	154523312	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	5967945	154523312	36630964	73	18749											
NPY2R	4887	genome.wustl.edu	37	chr4	156136005	156136005	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgaaggagtacaaacTcatcttcacagtgttccaca	13	9	8	11	0	3	1	2	1	1	0	4	3	4	3	2	2	2	2	2	2	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:156136005T>G	ENST00000329476.3	+	2	1403	c.914T>G	c.(913-915)cTc>cGc	p.L305R	NPY2R_ENST00000506608.1_Missense_Mutation_p.L305R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	305					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GAGTACAAACTCATCTTCACA	0.527																																																	0													118	93	102					4																	156136005		2203	4300	6503	SO:0001583	missense	0			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.914T>G	4.37:g.156136005T>G	ENSP00000332591:p.Leu305Arg		Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.L305R	ENST00000329476.3	37	c.914	CCDS3791.1	4	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492320	0.64074	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.71341	-0.56;-0.56	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88049	0.2786	10	0.62326	D	0.03	.	15.2333	0.73407	0.0:0.0:0.0:1.0	.	305	P49146	NPY2R_HUMAN	R	305	ENSP00000332591:L305R;ENSP00000426366:L305R	ENSP00000332591:L305R	L	+	2	0	NPY2R	156355455	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	8.040000	0.89188	2.190000	0.69967	0.523000	0.50628	CTC	NPY2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt	ENSG00000185149		0.527	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	-	0	37	0	T	NM_000910		156136005	1	tier1	-	no_errors	ENST00000329476	ensembl	human	known	74_37	missense	17.07	33	7	SNP	1.000	G	G	156136005	T	G	156136005	3	3	69	1	0	0	0	0	1	0	0	0	10648	1551	54	4	916	4	NPY2R	4	156136005	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	1612693	156136005	35018271	74	18750											
TRIML2	205860	genome.wustl.edu	37	chr4	189018248	189018248	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacatgctgctgagtcctcTtatgtggcataaactcaggt	10	12	10	9	0	2	1	1	1	1	0	3	2	3	1	1	2	4	3	1	2	4	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr4:189018248T>C	ENST00000512729.1	-	6	936	c.562A>G	c.(562-564)Aga>Gga	p.R188G	TRIML2_ENST00000326754.3_Missense_Mutation_p.R213G	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	188	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGAGTCCTCTTATGTGGCAT	0.493																																																	0													145	135	138					4																	189018248		2203	4300	6503	SO:0001583	missense	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.562A>G	4.37:g.189018248T>C	ENSP00000422581:p.Arg188Gly		B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R188G	ENST00000512729.1	37	c.562	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	T	9.502	1.103538	0.20632	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.58797	3.61;0.31	4.51	-2.69	0.06022	B30.2/SPRY domain (1);	2.102030	0.02146	N	0.057585	T	0.36690	0.0976	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.05818	-1.0862	10	0.27785	T	0.31	.	1.467	0.02408	0.2695:0.0896:0.3561:0.2849	.	213;188	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	G	188;213	ENSP00000422581:R188G;ENSP00000317498:R213G	ENSP00000317498:R213G	R	-	1	2	TRIML2	189255242	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.028000	0.12350	-0.418000	0.07450	-0.360000	0.07572	AGA	TRIML2	-	pfscan_B30.2/SPRY	ENSG00000179046		0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0	36	0	T	NM_173553		189018248	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.000	C	C	189018248	T	C	189018248	3	2	69	1	0	0	0	0	1	0	0	0	16599	1617	56	4	609	4	TRIML2	4	189018248	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	32882243	189018248	2136028	75	18751											
LPCAT1	79888	genome.wustl.edu	37	chr5	1489926	1489926	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tactgttttcctgcgagaatCctggtctgaccgggacacga	8	11	11	11	3	1	2	0	1	1	1	3	5	3	3	3	2	2	1	3	2	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:1489926C>G	ENST00000283415.3	-	4	673	c.541G>C	c.(541-543)Gat>Cat	p.D181H		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	181					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CTGCGAGAATCCTGGTCTGAC	0.552																																																	0													216	216	216					5																	1489926		2203	4300	6503	SO:0001583	missense	0			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"EF-hand domain containing"	25718	protein-coding gene	gene with protein product		610472	"acyltransferase like 2"	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.541G>C	5.37:g.1489926C>G	ENSP00000283415:p.Asp181His		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom	p.D181H	ENST00000283415.3	37	c.541	CCDS3864.1	5	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896446	0.52121	.	.	ENSG00000153395	ENST00000283415	D	0.97404	-4.37	4.49	4.49	0.54785	Phospholipid/glycerol acyltransferase (2);	0.097899	0.64402	D	0.000002	D	0.95825	0.8641	L	0.50919	1.6	0.58432	D	0.999997	P	0.43231	0.801	B	0.43251	0.413	D	0.96249	0.9182	10	0.56958	D	0.05	-11.0866	17.1769	0.86844	0.0:1.0:0.0:0.0	.	181	Q8NF37	PCAT1_HUMAN	H	181	ENSP00000283415:D181H	ENSP00000283415:D181H	D	-	1	0	LPCAT1	1542926	1.000000	0.71417	0.991000	0.47740	0.598000	0.36846	2.903000	0.48711	2.050000	0.60909	0.561000	0.74099	GAT	LPCAT1	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	ENSG00000153395		0.552	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1	-	0	94	0	C	NM_024830		1489926	-1	tier1	-	no_errors	ENST00000283415	ensembl	human	known	74_37	missense	11.80	314	42	SNP	1.000	G	G	1489926	C	G	1489926	3	3	69	1	0	0	0	0	1	0	0	0	8945	855	30	5	1107	5	LPCAT1	5	1489926	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09		1489926	179425334	76	18752											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5235215	5235215	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccccgggacagtgttgacTtccgtgctgctcagtgtgcc	4	11	13	13	2	1	1	1	1	0	0	3	2	3	2	4	1	3	3	4	1	0	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:5235215T>G	ENST00000274181.7	+	13	2077	c.1939T>G	c.(1939-1941)Ttc>Gtc	p.F647V	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	647	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGTGTTGACTTCCGTGCTGC	0.532																																																	0													78	81	80					5																	5235215		1950	4148	6098	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1939T>G	5.37:g.5235215T>G	ENSP00000274181:p.Phe647Val		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.F647V	ENST00000274181.7	37	c.1939	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	T	19.80	3.895652	0.72639	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.05996	3.36	4.67	4.67	0.58626	.	0.129273	0.53938	D	0.000057	T	0.36690	0.0976	H	0.96833	3.89	0.58432	D	0.999998	P;D	0.71674	0.842;0.998	B;D	0.70016	0.321;0.967	T	0.56469	-0.7974	10	0.87932	D	0	.	13.417	0.60974	0.0:0.0:0.0:1.0	.	647;647	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	647	ENSP00000274181:F647V	ENSP00000274181:F647V	F	+	1	0	ADAMTS16	5288215	1.000000	0.71417	0.998000	0.56505	0.520000	0.34377	7.610000	0.82949	1.888000	0.54679	0.533000	0.62120	TTC	ADAMTS16	-	NULL	ENSG00000145536		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	27	0	T	NM_139056		5235215	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	G	G	5235215	T	G	5235215	3	3	69	1	0	0	0	0	1	0	0	0	261	1609	56	4	1989	4	ADAMTS16	5	5235215	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	3745289	5235215	175680045	77	18753											
DNAH5	1767	genome.wustl.edu	37	chr5	13717530	13717530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaccccagggcaccgaacTtgcgcctctcctggacagtg	7	7	10	17	2	1	0	0	0	1	0	3	2	2	1	6	2	2	1	6	2	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:13717530T>C	ENST00000265104.4	-	73	12703	c.12599A>G	c.(12598-12600)aAg>aGg	p.K4200R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K4200T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552									Kartagener syndrome																																								1	Substitution - Missense(1)	pancreas(1)											70	64	66					5																	13717530		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12599A>G	5.37:g.13717530T>C	ENSP00000265104:p.Lys4200Arg		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K4200R	ENST00000265104.4	37	c.12599	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	26.7	4.759950	0.89932	.	.	ENSG00000039139	ENST00000265104	T	0.08984	3.03	5.45	5.45	0.79879	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35375	-0.9791	10	0.62326	D	0.03	.	15.5182	0.75842	0.0:0.0:0.0:1.0	.	4200	Q8TE73	DYH5_HUMAN	R	4200	ENSP00000265104:K4200R	ENSP00000265104:K4200R	K	-	2	0	DNAH5	13770530	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	8.020000	0.88740	2.067000	0.61834	0.533000	0.62120	AAG	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.552	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	30	0	T	NM_001369		13717530	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	C	C	13717530	T	C	13717530	3	2	69	1	0	0	0	0	1	0	0	0	4618	1609	56	4	1303	4	DNAH5	5	13717530	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	8482315	13717530	167197730	78	18754											
CDH12	1010	genome.wustl.edu	37	chr5	21783502	21783502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatggagaaattatactgcGcagtgctttctctgtctagt	9	16	9	7	1	2	1	0	0	2	1	3	2	2	1	0	1	3	2	0	1	5	5	rs143124599		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:21783502G>A	ENST00000382254.1	-	11	2444	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	CDH12_ENST00000504376.2_Missense_Mutation_p.A453V|CDH12_ENST00000522262.1_Missense_Mutation_p.A413V|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A453V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTATACTGCGCAGTGCTTTC	0.368										HNSCC(59;0.17)			G|||	1	0.000199681	8e-04	0	5008	,	,		18838	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)											190	184	186					5																	21783502		2203	4300	6503	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1358C>T	5.37:g.21783502G>A	ENSP00000371689:p.Ala453Val		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A453V	ENST00000382254.1	37	c.1358	CCDS3890.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.40	2.821838	0.50633	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.61859	0.07;0.07;0.07	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.201945	0.51477	D	0.000091	T	0.59824	0.2222	M	0.68952	2.095	0.52099	D	0.999944	B;B	0.25235	0.028;0.121	B;B	0.24701	0.055;0.035	T	0.56378	-0.7989	10	0.35671	T	0.21	.	19.4807	0.95008	0.0:0.0:1.0:0.0	.	413;453	B7Z2U6;P55289	.;CAD12_HUMAN	V	453;453;413	ENSP00000423577:A453V;ENSP00000371689:A453V;ENSP00000428786:A413V	ENSP00000371689:A453V	A	-	2	0	CDH12	21819259	1.000000	0.71417	0.040000	0.18447	0.993000	0.82548	9.360000	0.97119	2.597000	0.87782	0.655000	0.94253	GCG	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.368	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1		0	47	0	G	NM_004061		21783502	-1			no_errors	ENST00000382254	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.738	A	A	21783502	G	A	21783502	3	1	69	1	0	0	0	0	1	0	0	0	3105	1087	38	1	1046	1	CDH12	5	21783502	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	8065972	21783502	159131758	79	18755											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33534969	33534969	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaggcctgctggttgcaTtttttgaattctggaggtct	5	17	12	7	0	2	1	0	1	2	0	2	2	2	2	1	4	3	4	1	4	1	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:33534969T>G	ENST00000504830.1	-	23	4910	c.4575A>C	c.(4573-4575)aaA>aaC	p.K1525N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.K1440N	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1525	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGGTTGCATTTTTTGAATT	0.468										HNSCC(64;0.19)																																							0													149	140	143					5																	33534969		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4575A>C	5.37:g.33534969T>G	ENSP00000422554:p.Lys1525Asn		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1525N	ENST00000504830.1	37	c.4575	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	T	8.398	0.841213	0.16891	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.55588	0.51;0.51	5.13	-10.3	0.00346	.	0.516980	0.21671	N	0.070861	T	0.29321	0.0730	L	0.28649	0.875	0.41980	D	0.990791	B;B	0.06786	0.0;0.001	B;B	0.10450	0.003;0.005	T	0.29912	-0.9996	10	0.19590	T	0.45	.	12.0999	0.53776	0.0:0.462:0.4105:0.1275	.	1440;1525	P58397-3;P58397	.;ATS12_HUMAN	N	1525;1440	ENSP00000422554:K1525N;ENSP00000344847:K1440N	ENSP00000344847:K1440N	K	-	3	2	ADAMTS12	33570726	0.711000	0.27906	0.001000	0.08648	0.902000	0.53008	-0.715000	0.04997	-2.639000	0.00430	-0.371000	0.07208	AAA	ADAMTS12	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000151388		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	64	0	T	NM_030955		33534969	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	35.79	61	34	SNP	0.002	G	G	33534969	T	G	33534969	3	3	69	1	0	0	0	0	1	0	0	0	257	1490	52	4	217	4	ADAMTS12	5	33534969	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	11751467	33534969	147380291	80	18756											
PDE8B	8622	genome.wustl.edu	37	chr5	76696107	76696107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgattcaggagacaattCtcagacaggtgagaatactt	13	11	10	7	1	2	4	2	2	1	3	4	6	2	4	0	2	1	0	0	2	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:76696107C>A	ENST00000264917.5	+	11	1247	c.1202C>A	c.(1201-1203)tCt>tAt	p.S401Y	PDE8B_ENST00000346042.3_Missense_Mutation_p.S304Y|PDE8B_ENST00000342343.4_Missense_Mutation_p.S381Y|PDE8B_ENST00000340978.3_Missense_Mutation_p.S354Y|PDE8B_ENST00000333194.4_Missense_Mutation_p.S401Y	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	401					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	GGAGACAATTCTCAGACAGGT	0.338																																																	0													89	92	91					5																	76696107		2203	4300	6503	SO:0001583	missense	0			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"Phosphodiesterases"	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1202C>A	5.37:g.76696107C>A	ENSP00000264917:p.Ser401Tyr		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.S401Y	ENST00000264917.5	37	c.1202	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229780	0.58777	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194	T;T;T;T;T	0.71222	-0.43;-0.55;-0.43;-0.43;-0.54	5.32	5.32	0.75619	.	0.499351	0.23492	N	0.047598	T	0.72574	0.3477	M	0.61703	1.905	0.80722	D	1	P;P;P;P;P	0.39717	0.536;0.684;0.684;0.684;0.556	B;B;B;B;B	0.43251	0.413;0.381;0.381;0.381;0.211	T	0.72020	-0.4416	10	0.37606	T	0.19	.	16.509	0.84279	0.0:1.0:0.0:0.0	.	304;354;401;381;401	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	Y	354;304;401;381;401	ENSP00000345446:S354Y;ENSP00000330428:S304Y;ENSP00000264917:S401Y;ENSP00000345646:S381Y;ENSP00000331336:S401Y	ENSP00000264917:S401Y	S	+	2	0	PDE8B	76731863	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.403000	0.59729	2.642000	0.89623	0.563000	0.77884	TCT	PDE8B	-	NULL	ENSG00000113231		0.338	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	-	0	37	0	C	NM_003719		76696107	1	tier1	-	no_errors	ENST00000264917	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	A	A	76696107	C	A	76696107	3	1	69	1	0	0	0	0	1	0	0	0	11693	913	32	3	1244	3	PDE8B	5	76696107	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	43161138	76696107	104219153	81	18757											
VCAN	1462	genome.wustl.edu	37	chr5	82816669	82816669	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatcccaagtttcactgaAgatggagcagatgaatttac	14	10	9	8	0	1	4	1	2	0	2	2	6	2	5	1	1	2	2	1	1	4	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:82816669A>C	ENST00000265077.3	+	7	3109	c.2544A>C	c.(2542-2544)gaA>gaC	p.E848D	VCAN_ENST00000342785.4_Missense_Mutation_p.E848D|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E800D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	848	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTTTCACTGAAGATGGAGCAG	0.413																																																	0													106	105	106					5																	82816669		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2544A>C	5.37:g.82816669A>C	ENSP00000265077:p.Glu848Asp		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.E848D	ENST00000265077.3	37	c.2544	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	5.420	0.262682	0.10294	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.28666	1.6;1.6;1.6	6.06	-2.91	0.05631	.	0.423542	0.22370	N	0.060960	T	0.16342	0.0393	L	0.40543	1.245	0.09310	N	1	B;B	0.21606	0.01;0.058	B;B	0.17098	0.009;0.017	T	0.09530	-1.0670	10	0.36615	T	0.2	.	1.4656	0.02405	0.2863:0.1138:0.1383:0.4616	.	848;848	P13611-3;P13611	.;CSPG2_HUMAN	D	848;848;800	ENSP00000265077:E848D;ENSP00000342768:E848D;ENSP00000425959:E800D	ENSP00000265077:E848D	E	+	3	2	VCAN	82852425	0.028000	0.19301	0.007000	0.13788	0.121000	0.20230	0.008000	0.13197	-0.741000	0.04797	0.528000	0.53228	GAA	VCAN	-	NULL	ENSG00000038427		0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	25	0	A	NM_004385		82816669	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.003	C	C	82816669	A	C	82816669	3	2	69	1	0	0	0	0	1	0	0	0	17187	69	3	4	2566	4	VCAN	5	82816669	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	6120562	82816669	98098591	82	18758											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482358	140482358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcggtgctcctgttcGtggcggtgcggctgtgcagg	1	14	16	10	4	1	0	0	0	1	0	4	0	2	0	1	5	3	4	1	5	0	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:140482358G>A	ENST00000231130.2	+	1	2125	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	709					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGTTCGTGGCGGTGCG	0.692																																																	0													61	65	64					5																	140482358		2124	4160	6284	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2125G>A	5.37:g.140482358G>A	ENSP00000231130:p.Val709Met		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V709M	ENST00000231130.2	37	c.2125	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814630	0.32053	.	.	ENSG00000113205	ENST00000231130	T	0.15256	2.44	4.29	-0.24	0.13047	.	.	.	.	.	T	0.27765	0.0683	H	0.96048	3.76	0.09310	N	1	P	0.48162	0.906	B	0.36378	0.223	T	0.35674	-0.9779	9	0.72032	D	0.01	.	8.3353	0.32211	0.568:0.0:0.432:0.0	.	709	Q9Y5E6	PCDB3_HUMAN	M	709	ENSP00000231130:V709M	ENSP00000231130:V709M	V	+	1	0	PCDHB3	140462542	0.000000	0.05858	0.005000	0.12908	0.075000	0.17131	-0.280000	0.08468	0.074000	0.16767	-0.330000	0.08379	GTG	PCDHB3	-	NULL	ENSG00000113205		0.692	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	179	0	G	NM_018937		140482358	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	11.73	158	21	SNP	0.000	A	A	140482358	G	A	140482358	3	1	69	1	0	0	0	0	1	0	0	0	11582	1145	40	1	2127	1	PCDHB3	5	140482358	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	57665689	140482358	40432902	83	18759											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140734992	140734992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggtaggacgcagcttttCgccctgaacccgcgcagcgg	8	6	14	13	5	0	2	0	1	0	1	1	3	0	3	2	3	3	4	2	3	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:140734992C>T	ENST00000571252.1	+	1	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	75	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGCTTTTCGCCCTGAACC	0.637																																																	0													51	61	57					5																	140734992		2185	4297	6482	SO:0001819	synonymous_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.225C>T	5.37:g.140734992C>T			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F75	ENST00000571252.1	37	c.225	CCDS58979.1	5																																																																																			PCDHGA4	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000262576		0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1		0	62	0	C	NM_018917		140734992	1			no_errors	ENST00000571252	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.959	T	T	140734992	C	T	140734992	2	4	69	1	0	0	0	0	0	0	0	1	11595	883	31	1		1	PCDHGA4	5	140734992	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	252634	140734992	40180268	84	18760											
PCDHGA6	56109	genome.wustl.edu	37	chr5	140755574	140755574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgcgctcaagcagagcCtagtggtggccgtccaggac	9	5	15	12	3	1	2	1	0	0	2	2	4	2	3	3	3	2	2	3	3	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:140755574C>A	ENST00000517434.1	+	1	1924	c.1924C>A	c.(1924-1926)Cta>Ata	p.L642I	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCAGAGCCTAGTGGTGGC	0.697																																																	0													39	50	46					5																	140755574		2201	4297	6498	SO:0001583	missense	0			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"Cadherins / Protocadherins : Clustered"	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1924C>A	5.37:g.140755574C>A	ENSP00000429601:p.Leu642Ile		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L642I	ENST00000517434.1	37	c.1924	CCDS54926.1	5	.	.	.	.	.	.	.	.	.	.	.	19.95	3.921910	0.73213	.	.	ENSG00000253731	ENST00000517434	T	0.69040	-0.37	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	0.000000	0.28393	U	0.015516	T	0.80854	0.4703	M	0.83774	2.66	0.30340	N	0.785847	D;D	0.63046	0.992;0.975	P;D	0.63192	0.775;0.912	T	0.80547	-0.1334	10	0.87932	D	0	.	13.8554	0.63524	0.0:0.8469:0.1531:0.0	.	642;642	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	I	642	ENSP00000429601:L642I	ENSP00000429601:L642I	L	+	1	2	PCDHGA6	140735758	0.039000	0.19947	0.998000	0.56505	0.917000	0.54804	0.589000	0.23939	2.676000	0.91093	0.563000	0.77884	CTA	PCDHGA6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253731		0.697	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA6	HGNC	protein_coding	OTTHUMT00000374743.1	-	0	118	0	C	NM_018919		140755574	1	tier1	-	no_errors	ENST00000517434	ensembl	human	known	74_37	missense	7.74	143	12	SNP	1.000	A	A	140755574	C	A	140755574	3	1	69	1	0	0	0	0	1	0	0	0	11597	680	24	3	1926	3	PCDHGA6	5	140755574	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	20582	140755574	40159686	85	18761											
PCDHGB6	56100	genome.wustl.edu	37	chr5	140788505	140788505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccggttttcagcagagacGaatatagaattagtcttagt	12	12	9	8	2	2	2	1	0	1	2	2	4	2	2	2	1	1	2	2	1	6	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:140788505G>A	ENST00000520790.1	+	1	736	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	246	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E246*(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGACGAATATAGAAT	0.502																																																	1	Substitution - Nonsense(1)	endometrium(1)											33	34	34					5																	140788505		1848	4094	5942	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.736G>A	5.37:g.140788505G>A	ENSP00000428603:p.Glu246Lys		Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E246K	ENST00000520790.1	37	c.736	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	11.10	1.539023	0.27475	.	.	ENSG00000253305	ENST00000520790	T	0.61274	0.12	5.34	5.34	0.76211	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.49626	0.1568	L	0.46157	1.445	0.09310	N	1	P;P	0.41624	0.644;0.757	B;B	0.35039	0.126;0.194	T	0.53258	-0.8464	9	0.66056	D	0.02	.	13.05	0.58950	0.0784:0.0:0.9216:0.0	.	246;246	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	K	246	ENSP00000428603:E246K	ENSP00000428603:E246K	E	+	1	0	PCDHGB6	140768689	0.000000	0.05858	0.876000	0.34364	0.630000	0.37929	-0.575000	0.05861	2.502000	0.84385	0.467000	0.42956	GAA	PCDHGB6	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.502	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1		0	13	0	G	NM_018926		140788505	1			no_errors	ENST00000520790	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.018	A	A	140788505	G	A	140788505	3	1	69	1	0	0	0	0	1	0	0	0	11606	1059	37	1	738	1	PCDHGB6	5	140788505	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	32931	140788505	40126755	86	18762											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140801036	140801036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttttcgctgtgaatccgcGaagcggcagcttgatcacgg	7	10	13	11	5	1	2	1	2	0	0	3	3	2	2	1	2	2	4	1	2	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:140801036G>A	ENST00000398587.2	+	1	275	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R81Q|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATCCGCGAAGCGGCAGC	0.577																																																	0													41	50	47					5																	140801036		2157	4288	6445	SO:0001583	missense	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.242G>A	5.37:g.140801036G>A	ENSP00000381589:p.Arg81Gln		B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R81Q	ENST00000398587.2	37	c.242	CCDS47294.1	5	.	.	.	.	.	.	.	.	.	.	g	11.57	1.678652	0.29783	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	T;T	0.26810	1.71;1.71	5.93	4.12	0.48240	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.28901	U	0.013773	T	0.18593	0.0446	L	0.41710	1.295	0.09310	N	0.999999	P;P;P	0.45902	0.525;0.868;0.812	B;B;B	0.40864	0.124;0.329;0.342	T	0.13764	-1.0497	10	0.44086	T	0.13	.	4.8548	0.13554	0.2479:0.2986:0.4535:0.0	.	81;81;81	Q9Y5H2;Q9Y5H2-3;Q9Y5H2-2	PCDGB_HUMAN;.;.	Q	81	ENSP00000381589:R81Q;ENSP00000428333:R81Q	ENSP00000381589:R81Q	R	+	2	0	PCDHGA11	140781220	0.000000	0.05858	1.000000	0.80357	0.736000	0.42039	0.075000	0.14686	0.807000	0.34208	0.591000	0.81541	CGA	PCDHGA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253873		0.577	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1		0	46	0	G	NM_018914		140801036	1			no_errors	ENST00000398587	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.391	A	A	140801036	G	A	140801036	3	1	69	1	0	0	0	0	1	0	0	0	11591	1058	37	1	244	1	PCDHGA11	5	140801036	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	12531	140801036	40114224	87	18763											
PDGFRB	5159	genome.wustl.edu	37	chr5	149504349	149504349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctcaggccatgagccGtggcctccaccacctgccca	8	6	10	17	1	1	1	1	1	0	0	2	1	2	1	7	3	2	1	7	3	1	0	rs139554380		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:149504349G>A	ENST00000261799.4	-	13	2322	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCATGAGCCGTGGCCTCCAC	0.602			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													44	42	43					5																	149504349		2203	4300	6503	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1853C>T	5.37:g.149504349G>A	ENSP00000261799:p.Thr618Met		B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T618M	ENST00000261799.4	37	c.1853	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375035	0.82682	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.89617	-2.54	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000089	D	0.91862	0.7424	L	0.50919	1.6	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.92243	0.5802	10	0.87932	D	0	.	12.2053	0.54348	0.0821:0.0:0.9179:0.0	.	618;618	A8KAM8;P09619	.;PGFRB_HUMAN	M	618;288	ENSP00000261799:T618M	ENSP00000261799:T618M	T	-	2	0	PDGFRB	149484542	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	4.499000	0.60380	2.412000	0.81896	0.455000	0.32223	ACG	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113721		0.602	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	-	0	36	0	G	NM_002609		149504349	-1	tier1	-	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	A	A	149504349	G	A	149504349	3	1	69	1	0	0	0	0	1	0	0	0	11701	1145	40	1	1511	1	PDGFRB	5	149504349	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	8703313	149504349	31410911	88	18764											
ATP10B	23120	genome.wustl.edu	37	chr5	160029694	160029694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcgggtgatggcaaagtCgctggacatgacagcctgag	12	6	15	8	2	0	3	0	3	0	0	1	4	0	4	1	3	2	2	1	3	2	0	rs528980708	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:160029694C>T	ENST00000327245.5	-	21	4099	c.3253G>A	c.(3253-3255)Gac>Aac	p.D1085N		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1085					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGCAAAGTCGCTGGACATG	0.557													C|||	2	0.000399361	0	0.0029	5008	,	,		20585	0		0	False		,,,				2504	0																0													76	80	78					5																	160029694		2105	4241	6346	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3253G>A	5.37:g.160029694C>T	ENSP00000313600:p.Asp1085Asn		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D1085N	ENST00000327245.5	37	c.3253	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.821689	0.96989	.	.	ENSG00000118322	ENST00000327245	T	0.11063	2.81	5.62	5.62	0.85841	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71213	-0.4659	9	.	.	.	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	1085	O94823	AT10B_HUMAN	N	1085	ENSP00000313600:D1085N	.	D	-	1	0	ATP10B	159962272	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.726000	0.84824	2.648000	0.89879	0.650000	0.86243	GAC	ATP10B	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000118322		0.557	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1		0	25	0	C	NM_025153		160029694	-1			no_errors	ENST00000327245	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	T	T	160029694	C	T	160029694	3	4	69	1	0	0	0	0	1	0	0	0	1118	884	31	1	1156	1	ATP10B	5	160029694	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	10525345	160029694	20885566	89	18765											
SLIT3	6586	genome.wustl.edu	37	chr5	168151436	168151436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacataagcgtcaggtgtCggagggcggacagctctctg	8	9	14	10	3	2	0	1	0	1	0	4	2	2	2	0	4	3	1	0	4	2	2	rs561553750		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:168151436C>T	ENST00000519560.1	-	21	2743	c.2324G>A	c.(2323-2325)cGa>cAa	p.R775Q	SLIT3_ENST00000404867.3_Missense_Mutation_p.R775Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.R775Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	775					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTCAGGTGTCGGAGGGCGGA	0.522													c|||	1	0.000199681	0	0.0014	5008	,	,		17874	0		0	False		,,,				2504	0				Ovarian(29;311 847 10864 17279 24903)												0													68	63	65					5																	168151436		2203	4297	6500	SO:0001583	missense	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2324G>A	5.37:g.168151436C>T	ENSP00000430333:p.Arg775Gln		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R775Q	ENST00000519560.1	37	c.2324	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	c	20.9	4.069808	0.76301	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.79749	-1.3;-1.3;-1.3	4.87	3.99	0.46301	.	0.114014	0.64402	D	0.000013	T	0.71099	0.3300	N	0.13371	0.34	0.39901	D	0.973894	P	0.51537	0.946	P	0.49477	0.612	T	0.74340	-0.3697	10	0.72032	D	0.01	.	8.8978	0.35476	0.0:0.7702:0.1508:0.079	.	775	O75094	SLIT3_HUMAN	Q	775	ENSP00000430333:R775Q;ENSP00000332164:R775Q;ENSP00000384890:R775Q	ENSP00000332164:R775Q	R	-	2	0	SLIT3	168084014	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.855000	0.48333	1.040000	0.40099	0.489000	0.48404	CGA	SLIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184347		0.522	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	-	0	49	0	C	NM_003062		168151436	-1	tier1	-	no_errors	ENST00000519560	ensembl	human	known	74_37	missense	31.03	40	18	SNP	1.000	T	T	168151436	C	T	168151436	3	4	69	1	0	0	0	0	1	0	0	0	14786	884	31	1	2311	1	SLIT3	5	168151436	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	8121742	168151436	12763824	90	18766											
KIAA1191	57179	genome.wustl.edu	37	chr5	175777628	175777628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttacgtggagtgcttcGgccactcgaaggtacttggt	7	11	14	9	3	0	0	0	0	0	0	2	3	0	1	1	4	4	3	1	4	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr5:175777628G>A	ENST00000298569.4	-	6	980	c.447C>T	c.(445-447)gcC>gcT	p.A149A	KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Silent_p.A149A|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393725.2_Silent_p.A130A	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	149						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGAGTGCTTCGGCCACTCGAA	0.493																																																	0													119	110	113					5																	175777628		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.447C>T	5.37:g.175777628G>A			B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Silent	SNP	NULL	p.A149	ENST00000298569.4	37	c.447	CCDS4399.1	5																																																																																			KIAA1191	-	NULL	ENSG00000122203		0.493	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	-	0	86	0	G	NM_020444		175777628	-1	tier1	-	no_errors	ENST00000298569	ensembl	human	known	74_37	silent	45.45	42	35	SNP	0.995	A	A	175777628	G	A	175777628	2	1	69	1	0	0	0	0	0	0	0	1	8239	1103	39	1		1	KIAA1191	5	175777628	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	7626192	175777628	5137632	91	18767											
NEDD9	4739	genome.wustl.edu	37	chr6	11185638	11185638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaatgaacaccagtttGtgtgcactgaggatgacaaa	13	10	9	9	0	1	3	0	3	1	0	2	4	1	4	2	1	2	2	2	1	3	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:11185638G>T	ENST00000379446.5	-	7	2428	c.2262C>A	c.(2260-2262)caC>caA	p.H754Q	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.H754Q	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	754	Divergent helix-loop-helix motif.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACACCAGTTTGTGTGCACTGA	0.552																																																	0													202	162	176					6																	11185638		2203	4300	6503	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2262C>A	6.37:g.11185638G>T	ENSP00000368759:p.His754Gln		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.H754Q	ENST00000379446.5	37	c.2262	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937561	0.73557	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.26223	1.75;1.75	6.11	5.24	0.73138	CAS family, DUF3513 (1);	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	L	0.39514	1.22	0.80722	D	1	D;D;D	0.89917	0.99;0.996;1.0	D;D;D	0.97110	0.946;0.981;1.0	T	0.04029	-1.0983	10	0.34782	T	0.22	-40.2403	12.3856	0.55330	0.1343:0.0:0.8657:0.0	.	754;754;754	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	Q	754	ENSP00000368759:H754Q;ENSP00000422871:H754Q	ENSP00000368759:H754Q	H	-	3	2	NEDD9	11293624	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.439000	0.73430	1.602000	0.50124	0.655000	0.94253	CAC	NEDD9	-	pfam_CAS_DUF3513	ENSG00000111859		0.552	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	-	0	57	0	G	NM_006403		11185638	-1	tier1	-	no_errors	ENST00000379446	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	T	T	11185638	G	T	11185638	3	4	69	1	0	0	0	0	1	0	0	0	10352	1368	48	3	246	3	NEDD9	6	11185638	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09		11185638	159929429	92	18768											
PRL	5617	genome.wustl.edu	37	chr6	22292815	22292815	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgggggtggcaagggaagaAgtgtggcagctgttgatggc	8	8	20	5	1	0	2	0	1	0	1	1	3	0	3	0	6	1	4	0	6	3	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:22292815A>C	ENST00000306482.1	-	3	782	c.264T>G	c.(262-264)acT>acG	p.T88T	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	88					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CAAGGGAAGAAGTGTGGCAGC	0.488																																																	0													146	122	130					6																	22292815		2203	4300	6503	SO:0001819	synonymous_variant	0			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.264T>G	6.37:g.22292815A>C			Q15199|Q92996	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.T88	ENST00000306482.1	37	c.264	CCDS4548.1	6																																																																																			PRL	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000172179		0.488	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRL	HGNC	protein_coding	OTTHUMT00000043327.1	-	0	79	0	A	NM_000948		22292815	-1	tier1	-	no_errors	ENST00000306482	ensembl	human	known	74_37	silent	10.07	125	14	SNP	0.172	C	C	22292815	A	C	22292815	2	2	69	1	0	0	0	0	0	0	0	1	12570	59	3	4		4	PRL	6	22292815	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	11107177	22292815	148822252	93	18769											
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156794	26156795	+	Frame_Shift_Del	DEL	TG	TG	-																															ggagcgcagcggcgtatcttTggccgctctcaagaaagcgc																								rs374200136		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:26156794_26156795delTG	ENST00000304218.3	+	1	236_237	c.176_177delTG	c.(175-177)ttgfs	p.L59fs	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	59	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.L59L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GGCGTATCTTTGGCCGCTCTCA	0.614																																																	1	Substitution - coding silent(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	0			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.176_177delTG	6.37:g.26156794_26156795delTG	ENSP00000307705:p.Leu59fs		Q4VB25	Frame_Shift_Del	DEL	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.L59fs	ENST00000304218.3	37	c.176_177	CCDS4586.1	6																																																																																			HIST1H1E	-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	ENSG00000168298		0.614	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1		0	67	0	TG	NM_005321		26156795	1	tier1		no_errors	ENST00000304218	ensembl	human	known	74_37	frame_shift_del	26.87	49	18	DEL	0.756:0.761	-	-	26156795	TG	-	26156794	7	5	69	1	0	1	0	1	0	0	0	0	7153	1821	63	0	178	0	HIST1H1E	6	26156794	Frame_Shift_Del	DEL	TG	TCGA-L5-A4OW-01A-11D-A28B-09	3863979	26156794	144958273	94	18770	77	2									
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156799	26156800	+	Frame_Shift_Ins	INS	-	-	C																															cagcggcgtatctttggccgINSctctcaagaaagcgctggca																										TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:26156799_26156800insC	ENST00000304218.3	+	1	241_242	c.181_182insC	c.(181-183)gctfs	p.A61fs	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	61	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						ATCTTTGGCCGCTCTCAAGAAA	0.619																																																	0																																										SO:0001589	frameshift_variant	0			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.182dupC	6.37:g.26156800_26156800dupC	ENSP00000307705:p.Ala61fs		Q4VB25	Frame_Shift_Ins	INS	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.L62fs	ENST00000304218.3	37	c.181_182	CCDS4586.1	6																																																																																			HIST1H1E	-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	ENSG00000168298		0.619	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1		0	69	0	-	NM_005321		26156800	1	tier1		no_errors	ENST00000304218	ensembl	human	known	74_37	frame_shift_ins	32.39	48	23	INS	1.000:1.000	C	C	26156800	-	C	26156799	7	5	69	1	0	1	1	0	0	0	0	0	7153	1087	38	0	183	0	HIST1H1E	6	26156799	Frame_Shift_Ins	INS	-	TCGA-L5-A4OW-01A-11D-A28B-09	5	26156799	144958268	95	18771	77	2									
HIST1H2BO	8348	genome.wustl.edu	37	chr6	27861281	27861281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctcctgcccccaaaaaggGctccaagaaagccgtaacca	13	5	8	15	1	0	1	0	0	0	1	2	1	2	1	6	1	4	3	6	1	5	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:27861281G>A	ENST00000303806.4	+	1	79	c.41G>A	c.(40-42)gGc>gAc	p.G14D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	14					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCAAAAAGGGCTCCAAGAAA	0.532																																																	0													62	65	64					6																	27861281		2203	4300	6503	SO:0001583	missense	0			X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"Histones / Replication-dependent"	4758	protein-coding gene	gene with protein product		602808	"H2B histone family, member N", "histone 1, H2bo"	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.41G>A	6.37:g.27861281G>A	ENSP00000303408:p.Gly14Asp		Q3KPI7|Q8TCV6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.G14D	ENST00000303806.4	37	c.41	CCDS4640.1	6	.	.	.	.	.	.	.	.	.	.	G	13.32	2.200901	0.38905	.	.	ENSG00000196331	ENST00000303806	T	0.24538	1.85	3.7	3.7	0.42460	Histone-fold (2);	.	.	.	.	T	0.46171	0.1379	M	0.86953	2.85	0.39749	D	0.97185	D	0.61080	0.989	D	0.63957	0.92	T	0.57516	-0.7798	9	0.87932	D	0	.	15.2409	0.73468	0.0:0.0:1.0:0.0	.	14	P23527	H2B1O_HUMAN	D	14	ENSP00000303408:G14D	ENSP00000303408:G14D	G	+	2	0	HIST1H2BO	27969260	1.000000	0.71417	0.998000	0.56505	0.078000	0.17371	6.066000	0.71185	2.356000	0.79943	0.561000	0.74099	GGC	HIST1H2BO	-	superfamily_Histone-fold	ENSG00000196331		0.532	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BO	HGNC	protein_coding	OTTHUMT00000040161.1	-	0	45	0	G	NM_003527		27861281	1	tier1	-	no_errors	ENST00000303806	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	27861281	G	A	27861281	3	1	69	1	0	0	0	0	1	0	0	0	7181	1203	42	3	43	3	HIST1H2BO	6	27861281	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1704482	27861281	143253786	96	18772											
RPS10	6204	genome.wustl.edu	37	chr6	34389563	34389563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcccctcttgtgagtctcGcaggtcgctcaccctccaga	5	11	8	17	2	3	2	1	1	2	1	7	2	5	2	4	1	0	2	4	1	0	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:34389563G>A	ENST00000326199.8	-	4	437	c.344C>T	c.(343-345)gCg>gTg	p.A115V	RPS10_ENST00000344700.3_Missense_Mutation_p.A115V|RPS10_ENST00000494077.1_5'UTR|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.A115V	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	115					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						TGTGAGTCTCGCAGGTCGCTC	0.493																																					Colon(121;749 1624 4895 8687 22360)												0													200	201	201					6																	34389563		2203	4300	6503	SO:0001583	missense	0			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"S ribosomal proteins"	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.344C>T	6.37:g.34389563G>A	ENSP00000347271:p.Ala115Val		B2R4E3|Q5TZC0	Missense_Mutation	SNP	pfam_S10_plectin_N	p.A115V	ENST00000326199.8	37	c.344	CCDS4792.1	6	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506628	0.64410	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.77750	-1.09;-1.12	5.32	4.46	0.54185	.	0.128665	0.52532	D	0.000078	T	0.69097	0.3073	M	0.86178	2.8	0.58432	D	0.999999	B	0.21452	0.056	B	0.17433	0.018	T	0.69745	-0.5062	10	0.29301	T	0.29	-8.9891	14.0595	0.64790	0.0728:0.0:0.9272:0.0	.	115	P46783	RS10_HUMAN	V	115	ENSP00000347271:A115V;ENSP00000363169:A115V	ENSP00000347271:A115V	A	-	2	0	RPS10	34497541	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.738000	0.84966	1.383000	0.46405	0.591000	0.81541	GCG	RPS10	-	NULL	ENSG00000124614		0.493	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS10	HGNC	protein_coding	OTTHUMT00000040230.1	-	0	56	0	G			34389563	-1	tier1	-	no_errors	ENST00000326199	ensembl	human	known	74_37	missense	39.25	65	42	SNP	1.000	A	A	34389563	G	A	34389563	3	1	69	1	0	0	0	0	1	0	0	0	13665	1087	38	1	165	1	RPS10	6	34389563	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	6528282	34389563	136725504	97	18773											
MTCH1	23787	genome.wustl.edu	37	chr6	36938449	36938449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgaacttggtatagctccGgatggccagggcctggctga	8	8	14	11	2	0	1	0	1	0	0	1	3	1	2	3	5	2	3	3	5	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:36938449G>A	ENST00000373627.5	-	9	1052	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	MTCH1_ENST00000538808.1_Missense_Mutation_p.R137W|MTCH1_ENST00000471737.1_5'UTR|MTCH1_ENST00000373616.5_Missense_Mutation_p.R293W	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	310					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|neuronal ion channel clustering (GO:0045161)|positive regulation of apoptotic process (GO:0043065)|regulation of signal transduction (GO:0009966)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GTATAGCTCCGGATGGCCAGG	0.597																																																	0													101	69	80					6																	36938449		2203	4300	6503	SO:0001583	missense	0			AF151822	CCDS4828.1, CCDS64411.1	6p21.2	2013-05-22	2011-05-19		ENSG00000137409	ENSG00000137409		"Solute carriers"	17586	protein-coding gene	gene with protein product	"solute carrier family 25, member 49"	610449	"mitochondrial carrier homolog 1 (C. elegans)"			12377771	Standard	NM_014341		Approved	CGI-64, PSAP, SLC25A49	uc003ond.2	Q9NZJ7	OTTHUMG00000014614	ENST00000373627.5:c.928C>T	6.37:g.36938449G>A	ENSP00000362730:p.Arg310Trp		A8KAX5|B2RCE3|Q6PK60|Q6UX45|Q7L465|Q9BW23|Q9NZR6|Q9UJZ5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R310W	ENST00000373627.5	37	c.928		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.28|14.28	2.488739|2.488739	0.44249|0.44249	.|.	.|.	ENSG00000137409|ENSG00000137409	ENST00000373550|ENST00000373616;ENST00000373627;ENST00000337855;ENST00000373565;ENST00000460219;ENST00000538808	.|T;T;T;T	.|0.44482	.|0.92;0.92;0.92;0.92	5.52|5.52	3.75|3.75	0.43078|0.43078	.|Mitochondrial carrier domain (2);	.|0.174949	.|0.35179	.|N	.|0.003395	T|T	0.19208|0.19208	0.0461|0.0461	M|M	0.64567|0.64567	1.98|1.98	0.46798|0.46798	D|D	0.999208|0.999208	.|B;B;B;B	.|0.31817	.|0.135;0.341;0.317;0.025	.|B;B;B;B	.|0.19946	.|0.019;0.027;0.026;0.006	T|T	0.08534|0.08534	-1.0717|-1.0717	6|10	0.10902|0.87932	T|D	0.67|0	-9.4896|-9.4896	6.3252|6.3252	0.21239|0.21239	0.1514:0.0:0.7012:0.1474|0.1514:0.0:0.7012:0.1474	.|.	.|137;292;310;293	.|B4E0C5;Q8IW90;Q9NZJ7;Q9NZJ7-2	.|.;.;MTCH1_HUMAN;.	L|W	230|293;310;229;123;277;137	.|ENSP00000362718:R293W;ENSP00000362730:R310W;ENSP00000419739:R277W;ENSP00000437660:R137W	ENSP00000362651:P230L|ENSP00000338712:R229W	P|R	-|-	2|1	0|2	MTCH1|MTCH1	37046427|37046427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.587000|2.587000	0.46128|0.46128	0.713000|0.713000	0.32060|0.32060	-0.140000|-0.140000	0.14226|0.14226	CCG|CGG	MTCH1	-	superfamily_Mt_carrier_dom	ENSG00000137409		0.597	MTCH1-008	KNOWN	basic|appris_principal	protein_coding	MTCH1	HGNC	protein_coding	OTTHUMT00000040396.1		0	20	0	G	NM_014341		36938449	-1			no_errors	ENST00000373627	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	36938449	G	A	36938449	3	1	69	1	0	0	0	0	1	0	0	0	9951	1115	39	1	257	1	MTCH1	6	36938449	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2548886	36938449	134176618	98	18774											
TFAP2D	83741	genome.wustl.edu	37	chr6	50696968	50696968	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggataggcttggcttaaacTtaccagcaggaagacggaaa	14	8	12	7	1	0	1	0	0	0	1	0	4	0	4	1	5	3	3	1	5	6	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:50696968T>G	ENST00000008391.3	+	5	1054	c.826T>G	c.(826-828)Tta>Gta	p.L276V	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TGGCTTAAACTTACCAGCAGG	0.418																																																	0													158	139	146					6																	50696968		2203	4300	6503	SO:0001583	missense	0			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.826T>G	6.37:g.50696968T>G	ENSP00000008391:p.Leu276Val			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.L276V	ENST00000008391.3	37	c.826	CCDS4933.1	6	.	.	.	.	.	.	.	.	.	.	T	21.4	4.138948	0.77775	.	.	ENSG00000008197	ENST00000008391	D	0.96913	-4.17	6.08	3.68	0.42216	Transcription factor AP-2, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.97798	0.9277	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98266	1.0501	10	0.87932	D	0	-13.5664	10.8308	0.46659	0.0:0.1293:0.0:0.8707	.	276	Q7Z6R9	AP2D_HUMAN	V	276	ENSP00000008391:L276V	ENSP00000008391:L276V	L	+	1	2	TFAP2D	50804927	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.425000	0.44723	1.129000	0.42072	0.482000	0.46254	TTA	TFAP2D	-	pfam_TF_AP2_C,prints_TF_AP2_C	ENSG00000008197		0.418	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1		0	35	0	T	NM_172238		50696968	1			no_errors	ENST00000008391	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	G	G	50696968	T	G	50696968	3	3	69	1	0	0	0	0	1	0	0	0	15837	1606	56	4	844	4	TFAP2D	6	50696968	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	13758519	50696968	120418099	99	18775											
PKHD1	5314	genome.wustl.edu	37	chr6	51935814	51935814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaacagaccgatgtagtcGccttccacatggcactgcag	10	9	9	13	2	1	1	0	0	1	1	3	2	2	1	3	1	2	3	3	1	2	3	rs189345248		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:51935814G>A	ENST00000371117.3	-	9	932	c.657C>T	c.(655-657)ggC>ggT	p.G219G	PKHD1_ENST00000340994.4_Silent_p.G219G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	219	IPT/TIG 2.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CGATGTAGTCGCCTTCCACAT	0.413																																																	0			GRCh37	CS032417	PKHD1	S	rs189345248						95	91	92					6																	51935814		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.657C>T	6.37:g.51935814G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.G219	ENST00000371117.3	37	c.657	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.413	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1		0	17	0	G	NM_138694		51935814	-1			no_errors	ENST00000371117	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.853	A	A	51935814	G	A	51935814	2	1	69	1	0	0	0	0	0	0	0	1	12010	1074	38	1		1	PKHD1	6	51935814	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1238846	51935814	119179253	100	18776											
SPACA1	81833	genome.wustl.edu	37	chr6	88768457	88768457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaccaatttcagaaagtCttgaaagtgttagattggca	15	12	9	5	0	2	3	1	1	1	2	2	3	2	3	1	1	1	3	1	1	6	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:88768457C>A	ENST00000237201.1	+	4	508	c.391C>A	c.(391-393)Ctt>Att	p.L131I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	131					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TTCAGAAAGTCTTGAAAGTGT	0.313																																																	0													87	91	90					6																	88768457		2203	4300	6503	SO:0001583	missense	0			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.391C>A	6.37:g.88768457C>A	ENSP00000237201:p.Leu131Ile			Missense_Mutation	SNP	NULL	p.L131I	ENST00000237201.1	37	c.391	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459628	0.63401	.	.	ENSG00000118434	ENST00000237201	T	0.42131	0.98	5.49	4.59	0.56863	.	0.116551	0.38959	N	0.001505	T	0.18341	0.0440	L	0.53249	1.67	0.25375	N	0.988662	P	0.42518	0.782	B	0.34652	0.187	T	0.08617	-1.0713	10	0.45353	T	0.12	-13.9163	8.5368	0.33368	0.1533:0.7671:0.0:0.0796	.	131	Q9HBV2	SACA1_HUMAN	I	131	ENSP00000237201:L131I	ENSP00000237201:L131I	L	+	1	0	SPACA1	88825176	0.514000	0.26202	1.000000	0.80357	0.982000	0.71751	1.535000	0.36061	2.575000	0.86900	0.650000	0.86243	CTT	SPACA1	-	NULL	ENSG00000118434		0.313	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	HGNC	protein_coding	OTTHUMT00000041459.1	-	0	24	0	C			88768457	1	tier1	-	no_errors	ENST00000237201	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.967	A	A	88768457	C	A	88768457	3	1	69	1	0	0	0	0	1	0	0	0	15017	913	32	3	405	3	SPACA1	6	88768457	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	36832643	88768457	82346610	101	18777											
EPHA7	2045	genome.wustl.edu	37	chr6	93956601	93956601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcaaattttggcctttCagcacgctccttttgccaac	7	15	6	13	1	2	0	2	0	0	0	3	0	3	0	3	1	3	3	3	1	2	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:93956601C>T	ENST00000369303.4	-	15	2819	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	879	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.E879K(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTGGCCTTTCAGCACGCTCC	0.418																																																	2	Substitution - Missense(2)	lung(2)											119	114	116					6																	93956601		2203	4300	6503	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2635G>A	6.37:g.93956601C>T	ENSP00000358309:p.Glu879Lys		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E879K	ENST00000369303.4	37	c.2635	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531789	0.85706	.	.	ENSG00000135333	ENST00000369303	D	0.82344	-1.6	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.050665	0.85682	D	0.000000	T	0.67878	0.2940	N	0.13003	0.285	0.80722	D	1	B;P;P	0.42961	0.069;0.756;0.795	B;B;B	0.44278	0.025;0.317;0.445	T	0.68945	-0.5275	10	0.22706	T	0.39	.	19.9265	0.97104	0.0:1.0:0.0:0.0	.	875;874;879	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	K	879	ENSP00000358309:E879K	ENSP00000358309:E879K	E	-	1	0	EPHA7	94013322	1.000000	0.71417	0.960000	0.40013	0.988000	0.76386	4.842000	0.62831	2.723000	0.93209	0.591000	0.81541	GAA	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135333		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1	-	0	60	0	C			93956601	-1	tier1	-	no_errors	ENST00000369303	ensembl	human	known	74_37	missense	10.00	63	7	SNP	1.000	T	T	93956601	C	T	93956601	3	4	69	1	0	0	0	0	1	0	0	0	5188	835	29	3	373	3	EPHA7	6	93956601	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	5188144	93956601	77158466	102	18778											
FUT9	10690	genome.wustl.edu	37	chr6	96651724	96651724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaatgataaaaatttGattcctaccatatctacttg	14	16	4	7	0	2	2	1	2	1	0	3	2	3	2	2	0	2	0	2	0	8	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:96651724G>T	ENST00000302103.5	+	3	1019	c.693G>T	c.(691-693)ttG>ttT	p.L231F		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	231					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATAAAAATTTGATTCCTACCA	0.358																																					Melanoma(98;1369 1476 6592 22940 26587)												0													44	44	44					6																	96651724		2203	4300	6503	SO:0001583	missense	0			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.693G>T	6.37:g.96651724G>T	ENSP00000302599:p.Leu231Phe		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.L231F	ENST00000302103.5	37	c.693	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	6.312	0.425720	0.11987	.	.	ENSG00000172461	ENST00000302103	T	0.26067	1.76	5.66	2.95	0.34219	.	0.277734	0.36034	N	0.002838	T	0.05960	0.0155	L	0.31420	0.93	0.36851	D	0.88791	B	0.12630	0.006	B	0.18263	0.021	T	0.22695	-1.0209	10	0.10902	T	0.67	-11.1932	9.9714	0.41757	0.2824:0.0:0.7176:0.0	.	231	Q9Y231	FUT9_HUMAN	F	231	ENSP00000302599:L231F	ENSP00000302599:L231F	L	+	3	2	FUT9	96758445	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.933000	0.28897	0.345000	0.23873	-0.216000	0.12614	TTG	FUT9	-	pfam_Glyco_trans_10	ENSG00000172461		0.358	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2		0	29	0	G	NM_006581		96651724	1			no_errors	ENST00000302103	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	96651724	G	T	96651724	3	4	69	1	0	0	0	0	1	0	0	0	6135	1281	45	3	695	3	FUT9	6	96651724	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2695123	96651724	74463343	103	18779											
PRDM13	59336	genome.wustl.edu	37	chr6	100060981	100060981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccttaaggcacacctgcGtttccactgcgtgttcagcg	7	10	10	14	3	1	0	1	0	0	0	2	0	2	0	3	1	4	3	3	1	1	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:100060981G>A	ENST00000369215.4	+	4	775	c.470G>A	c.(469-471)cGt>cAt	p.R157H		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	157					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		GCACACCTGCGTTTCCACTGC	0.627																																																	0													40	42	41					6																	100060981		2040	4182	6222	SO:0001583	missense	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.470G>A	6.37:g.100060981G>A	ENSP00000358217:p.Arg157His		Q5TGC1|Q5TGC2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.R157H	ENST00000369215.4	37	c.470	CCDS43487.1	6	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528216	0.27299	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.58506	0.33;0.33	5.49	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.170375	0.28343	N	0.015699	T	0.37019	0.0988	M	0.78456	2.415	0.41295	D	0.987005	B	0.18610	0.029	B	0.10450	0.005	T	0.48948	-0.8989	10	0.32370	T	0.25	-13.2012	3.7815	0.08682	0.3378:0.0:0.6622:0.0	.	157	Q9H4Q3	PRD13_HUMAN	H	157;167	ENSP00000358217:R157H;ENSP00000358216:R167H	ENSP00000358216:R167H	R	+	2	0	PRDM13	100167702	1.000000	0.71417	0.985000	0.45067	0.970000	0.65996	4.853000	0.62911	2.579000	0.87056	0.557000	0.71058	CGT	PRDM13	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112238		0.627	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	-	0	40	0	G			100060981	1	tier1	-	no_errors	ENST00000369215	ensembl	human	known	74_37	missense	10.29	61	7	SNP	0.999	A	A	100060981	G	A	100060981	3	1	69	1	0	0	0	0	1	0	0	0	12496	1145	40	1	484	1	PRDM13	6	100060981	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3409257	100060981	71054086	104	18780											
MYB	4602	genome.wustl.edu	37	chr6	135539052	135539052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggaaagatggaggagcaGatgacatcttccagtcaagc	13	8	13	7	0	2	3	1	1	1	2	3	6	3	6	1	3	2	1	1	3	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:135539052G>C	ENST00000367814.4	+	15	2043	c.1857G>C	c.(1855-1857)caG>caC	p.Q619H	MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Missense_Mutation_p.Q534H|MYB_ENST00000341911.5_Missense_Mutation_p.Q740H|MYB_ENST00000442647.2_Missense_Mutation_p.Q616H|MYB_ENST00000533624.1_Missense_Mutation_p.Q584H|MYB_ENST00000534044.1_Missense_Mutation_p.Q582H|MYB_ENST00000534121.1_Missense_Mutation_p.Q724H|MYB_ENST00000528774.1_Missense_Mutation_p.Q737H|MYB_ENST00000316528.8_Missense_Mutation_p.Q705H	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	619					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TGGAGGAGCAGATGACATCTT	0.483			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													191	164	173					6																	135539052		2203	4300	6503	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1857G>C	6.37:g.135539052G>C	ENSP00000356788:p.Gln619His		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q740H	ENST00000367814.4	37	c.2220	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534432	0.27475	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000367814;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T	0.46451	1.85;1.19;1.82;1.19;0.87;1.85;1.83;1.63;1.25	5.65	3.55	0.40652	.	0.055623	0.85682	D	0.000000	T	0.47619	0.1455	M	0.66297	2.02	0.26434	N	0.975884	D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.998;0.998;0.99;1.0;0.999;0.997	D;D;D;D;D;D;D;P	0.87578	0.993;0.993;0.994;0.993;0.979;0.998;0.997;0.85	T	0.36163	-0.9759	10	0.87932	D	0	-10.5835	10.7032	0.45939	0.2267:0.0:0.7733:0.0	.	584;582;616;737;534;724;740;619	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242	.;.;.;.;.;.;.;MYB_HUMAN	H	740;616;705;619;534;737;724;582;584	ENSP00000339992:Q740H;ENSP00000410825:Q616H;ENSP00000326328:Q705H;ENSP00000356788:Q619H;ENSP00000435938:Q534H;ENSP00000434723:Q737H;ENSP00000432851:Q724H;ENSP00000435055:Q582H;ENSP00000436605:Q584H	ENSP00000326328:Q705H	Q	+	3	2	MYB	135580745	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.260000	0.43267	1.386000	0.46466	0.655000	0.94253	CAG	MYB	-	NULL	ENSG00000118513		0.483	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0	58	0	G			135539052	1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	89.08	55	457	SNP	1.000	C	C	135539052	G	C	135539052	3	2	69	1	0	0	0	0	1	0	0	0	10045	933	33	5	2282	5	MYB	6	135539052	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	35478071	135539052	35576015	105	18781											
AKAP12	9590	genome.wustl.edu	37	chr6	151674115	151674116	+	In_Frame_Ins	INS	-	-	GGA																															gtcaaagtgagtgtagcaatINStgaggatttagagcctgaaa																								rs200313814|rs34338625|rs3842128|rs200691212|rs113116275|rs34737819	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr6:151674115_151674116insGGA	ENST00000253332.1	+	3	4778_4779	c.4589_4590insGGA	c.(4588-4593)attgag>atGGAtgag	p.1530_1530I>MD	AKAP12_ENST00000354675.6_In_Frame_Ins_p.1432_1432I>MD|AKAP12_ENST00000402676.2_In_Frame_Ins_p.1530_1530I>MD|AKAP12_ENST00000359755.5_In_Frame_Ins_p.1425_1425I>MD			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1530					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGTGTAGCAATTGAGGATTTAG	0.45																																					Melanoma(141;1616 1805 10049 24534 51979)												0																																										SO:0001652	inframe_insertion	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	Exception_encountered	6.37:g.151674115_151674116insGGA	ENSP00000253332:p.Ile1530delinsMetAsp		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	In_Frame_Ins	INS	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.I1530in_frame_insMD	ENST00000253332.1	37	c.4589_4590	CCDS5229.1	6																																																																																			AKAP12	-	NULL	ENSG00000131016		0.45	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1		0	45	0	-			151674116	1	tier1		no_errors	ENST00000253332	ensembl	human	known	74_37	in_frame_ins	38.96	47	30	INS	0.000:0.000	GGA	GGA	151674116	-	GGA	151674115	7	5	69	1	0	1	1	0	0	0	0	0	448	1493	52	0	4628	0	AKAP12	6	151674115	In_Frame_Ins	INS	-	TCGA-L5-A4OW-01A-11D-A28B-09	16135063	151674115	19440952	106	18782											
GRM3	2913	genome.wustl.edu	37	chr7	86493638	86493638	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaacggtgtgcaatgggcgGgaagtcctcgactccaccac	9	6	12	14	3	0	0	0	0	0	0	3	2	2	1	4	3	2	1	4	3	3	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr7:86493638G>A	ENST00000361669.2	+	6	3706	c.2607G>A	c.(2605-2607)cgG>cgA	p.R869R	GRM3_ENST00000546348.1_Silent_p.R461R|GRM3_ENST00000536043.1_Silent_p.R741R|GRM3_ENST00000394720.2_Missense_Mutation_p.G512R|GRM3_ENST00000439827.1_Missense_Mutation_p.G514R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	869					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R869R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GCAATGGGCGGGAAGTCCTCG	0.473																																					GBM(52;969 1098 3139 52280)												1	Substitution - coding silent(1)	skin(1)											287	234	252					7																	86493638		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2607G>A	7.37:g.86493638G>A			Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt	p.G512R	ENST00000361669.2	37	c.1534	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022761	0.54683	.	.	ENSG00000198822	ENST00000439827;ENST00000394720	D;D	0.88896	-2.44;-2.44	5.99	2.14	0.27477	.	.	.	.	.	T	0.76955	0.4060	.	.	.	0.23381	N	0.997792	B	0.02656	0.0	B	0.08055	0.003	T	0.59568	-0.7430	7	.	.	.	.	2.4788	0.04582	0.2055:0.1294:0.5308:0.1342	.	514	G5E9K2	.	R	514;512	ENSP00000398767:G514R;ENSP00000378209:G512R	.	G	+	1	0	GRM3	86331574	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	1.030000	0.30153	0.115000	0.18071	0.655000	0.94253	GGA	GRM3	-	NULL	ENSG00000198822		0.473	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2		0	36	0	G			86493638	1			no_errors	ENST00000394720	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	86493638	G	A	86493638	2	1	69	1	0	0	0	0	0	0	0	1	6825	1219	43	3		3	GRM3	7	86493638	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09		86493638	72645025	107	18783											
FZD1	8321	genome.wustl.edu	37	chr7	90895993	90895993	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccgcccatgagcccggacTtcacggtcttcatgattaag	9	9	9	14	3	3	2	2	2	1	0	3	3	3	3	3	2	1	0	3	2	1	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr7:90895993T>G	ENST00000287934.2	+	1	2211	c.1798T>G	c.(1798-1800)Ttc>Gtc	p.F600V		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	600					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GAGCCCGGACTTCACGGTCTT	0.632																																																	0													25	28	27					7																	90895993		2203	4300	6503	SO:0001583	missense	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1798T>G	7.37:g.90895993T>G	ENSP00000287934:p.Phe600Val		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F600V	ENST00000287934.2	37	c.1798	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	T	18.12	3.553790	0.65425	.	.	ENSG00000157240	ENST00000287934	T	0.80824	-1.42	4.91	4.91	0.64330	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	D	0.86539	0.5957	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85767	0.1353	10	0.38643	T	0.18	.	14.997	0.71439	0.0:0.0:0.0:1.0	.	600	Q9UP38	FZD1_HUMAN	V	600	ENSP00000287934:F600V	ENSP00000287934:F600V	F	+	1	0	FZD1	90733929	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.857000	0.86963	2.187000	0.69744	0.533000	0.62120	TTC	FZD1	-	pfam_Frizzled,pfscan_GPCR_2-like	ENSG00000157240		0.632	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	HGNC	protein_coding	OTTHUMT00000059367.2	-	0	31	0	T	NM_003505		90895993	1	tier1	-	no_errors	ENST00000287934	ensembl	human	known	74_37	missense	27.06	62	23	SNP	1.000	G	G	90895993	T	G	90895993	3	3	69	1	0	0	0	0	1	0	0	0	6152	1609	56	4	1800	4	FZD1	7	90895993	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	4402355	90895993	68242670	108	18784											
SAMD9	54809	genome.wustl.edu	37	chr7	92734538	92734538	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactatttggcagtaaaacTtccacaaatcttggctctcg	11	13	7	10	1	2	0	0	0	2	0	4	0	3	0	1	2	2	4	1	2	5	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr7:92734538T>G	ENST00000379958.2	-	3	1142	c.873A>C	c.(871-873)gaA>gaC	p.E291D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	291						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GCAGTAAAACTTCCACAAATC	0.348																																																	0													121	120	120					7																	92734538		2203	4300	6503	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"Sterile alpha motif (SAM) domain containing"	1348	protein-coding gene	gene with protein product		610456	"chromosome 7 open reading frame 5"	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.873A>C	7.37:g.92734538T>G	ENSP00000369292:p.Glu291Asp		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.E291D	ENST00000379958.2	37	c.873	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	12.22	1.873526	0.33069	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.15718	2.4;2.4	4.34	1.91	0.25777	.	0.190136	0.33127	U	0.005253	T	0.14485	0.0350	L	0.61036	1.89	0.26106	N	0.980747	B	0.14012	0.009	B	0.15052	0.012	T	0.23404	-1.0189	10	0.49607	T	0.09	-8.454	2.2335	0.04002	0.1494:0.0887:0.1716:0.5904	.	291	Q5K651	SAMD9_HUMAN	D	291	ENSP00000369292:E291D;ENSP00000414529:E291D	ENSP00000369292:E291D	E	-	3	2	SAMD9	92572474	1.000000	0.71417	0.991000	0.47740	0.860000	0.49131	0.826000	0.27407	0.290000	0.22444	-0.346000	0.07831	GAA	SAMD9	-	NULL	ENSG00000205413		0.348	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1		0	22	0	T	NM_017654		92734538	-1			no_errors	ENST00000379958	ensembl	human	known	74_37	missense	9.86	64	7	SNP	0.999	G	G	92734538	T	G	92734538	3	3	69	1	0	0	0	0	1	0	0	0	13871	1606	56	4	3900	4	SAMD9	7	92734538	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	1838545	92734538	66404125	109	18785											
NRCAM	4897	genome.wustl.edu	37	chr7	107830095	107830095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataataccacatacttgtaaTggggctattgttgtcatcgc	11	14	8	8	1	1	0	1	0	0	0	2	0	1	0	1	2	2	3	1	2	5	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr7:107830095T>C	ENST00000425651.2	-	17	2028	c.2029A>G	c.(2029-2031)Att>Gtt	p.I677V	NRCAM_ENST00000379024.4_Missense_Mutation_p.I658V|NRCAM_ENST00000379028.3_Missense_Mutation_p.I677V|NRCAM_ENST00000351718.4_Missense_Mutation_p.I661V|NRCAM_ENST00000413765.2_Missense_Mutation_p.I658V|NRCAM_ENST00000379022.4_Missense_Mutation_p.I677V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	677	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATACTTGTAATGGGGCTATTG	0.408																																																	0													178	156	164					7																	107830095		2203	4300	6503	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2029A>G	7.37:g.107830095T>C	ENSP00000401244:p.Ile677Val		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I677V	ENST00000425651.2	37	c.2029	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812134	0.50527	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.18	3.95	0.45737	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.215104	0.44688	D	0.000421	T	0.50735	0.1633	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B	0.27013	0.054;0.003;0.025;0.011;0.166	B;B;B;B;B	0.35655	0.033;0.024;0.099;0.041;0.207	T	0.51601	-0.8685	10	0.40728	T	0.16	.	10.9141	0.47126	0.1404:0.0:0.0:0.8596	.	677;658;658;661;677	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	V	677;677;658;677;661;658;677;677;661	ENSP00000368314:I677V;ENSP00000407858:I658V;ENSP00000325269:I661V;ENSP00000368310:I658V;ENSP00000401244:I677V;ENSP00000368308:I677V	ENSP00000325269:I661V	I	-	1	0	NRCAM	107617331	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.210000	0.72176	1.952000	0.56665	0.477000	0.44152	ATT	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000091129		0.408	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	-	0	30	0	T	NM_001037132		107830095	-1	tier1	-	no_errors	ENST00000379028	ensembl	human	known	74_37	missense	50.00	17	17	SNP	1.000	C	C	107830095	T	C	107830095	3	2	69	1	0	0	0	0	1	0	0	0	10683	1464	51	4	1971	4	NRCAM	7	107830095	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	15095557	107830095	51308568	110	18786											
PRSS1	5644	genome.wustl.edu	37	chr7	142459717	142459717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcatccgccacccccAatacgacaggaagactctga	14	5	7	15	2	2	3	1	1	1	2	3	5	3	4	4	1	1	0	4	1	4	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr7:142459717A>G	ENST00000311737.7	+	3	299	c.293A>G	c.(292-294)cAa>cGa	p.Q98R	PRSS1_ENST00000486171.1_Missense_Mutation_p.Q112R	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	98	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	CGCCACCCCCAATACGACAGG	0.547																																																	0													234	219	224					7																	142459717		2203	4300	6503	SO:0001583	missense	0			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.293A>G	7.37:g.142459717A>G	ENSP00000308720:p.Gln98Arg		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q98R	ENST00000311737.7	37	c.293	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	A	0.507	-0.868103	0.02590	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;T	0.92858	-3.12;-3.12;-1.49	3.28	-6.56	0.01848	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.293800	0.04657	N	0.408175	D	0.84275	0.5436	N	0.20574	0.59	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.70648	-0.4814	10	0.27785	T	0.31	.	12.9713	0.58513	0.3763:0.0:0.6237:0.0	.	112;98	E7EQ64;P07477	.;TRY1_HUMAN	R	112;98;88;48	ENSP00000417854:Q112R;ENSP00000308720:Q98R;ENSP00000419912:Q48R	ENSP00000308720:Q98R	Q	+	2	0	PRSS1	142139291	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.668000	0.01959	-1.697000	0.01420	-0.554000	0.04202	CAA	PRSS1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000204983		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	HGNC	protein_coding	OTTHUMT00000352538.2	-	0	95	0	A			142459717	1	tier1	-	no_errors	ENST00000311737	ensembl	human	known	74_37	missense	8.75	73	7	SNP	0.000	G	G	142459717	A	G	142459717	3	3	69	1	0	0	0	0	1	0	0	0	12656	130	5	4	303	4	PRSS1	7	142459717	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	34629622	142459717	16678946	111	18787											
TMEM176B	28959	genome.wustl.edu	37	chr7	150491085	150491085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggcacagcctgaggcactCagcacagtccagggccccaa	12	3	11	15	0	1	1	1	1	0	0	2	1	2	1	4	3	2	3	4	3	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr7:150491085C>T	ENST00000447204.2	-	3	651	c.279G>A	c.(277-279)ctG>ctA	p.L93L	TMEM176B_ENST00000429904.2_Silent_p.L93L|TMEM176B_ENST00000326442.5_Silent_p.L93L|TMEM176B_ENST00000492607.1_Silent_p.L93L|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000434545.1_Silent_p.L93L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	93					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAGGCACTCAGCACAGTCC	0.567																																																	0													221	191	201					7																	150491085		2203	4300	6503	SO:0001819	synonymous_variant	0			AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.279G>A	7.37:g.150491085C>T			B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.L93	ENST00000447204.2	37	c.279	CCDS5908.1	7																																																																																			TMEM176B	-	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	ENSG00000106565		0.567	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM176B	HGNC	protein_coding	OTTHUMT00000349204.1	-	0	39	0	C	NM_014020		150491085	-1	tier1	-	no_errors	ENST00000326442	ensembl	human	known	74_37	silent	55.56	24	30	SNP	0.164	T	T	150491085	C	T	150491085	2	4	69	1	0	0	0	0	0	0	0	1	16140	813	29	3		3	TMEM176B	7	150491085	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	8031368	150491085	8647578	112	18788											
DLGAP2	9228	genome.wustl.edu	37	chr8	1497818	1497818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctgcaccaggacgccaAgcccgccctgaggccgtgcc	6	4	13	18	3	0	1	0	1	0	0	0	2	0	2	6	2	4	3	6	2	1	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:1497818A>C	ENST00000421627.2	+	2	1093	c.959A>C	c.(958-960)aAg>aCg	p.K320T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	399					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CAGGACGCCAAGCCCGCCCTG	0.627																																																	0													6	6	6					8																	1497818		2015	4090	6105	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.959A>C	8.37:g.1497818A>C	ENSP00000400258:p.Lys320Thr		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.K320T	ENST00000421627.2	37	c.959	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.39|13.39	2.223952|2.223952	0.39300|0.39300	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	D|.	0.89050|.	-2.46|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77922|0.77922	0.4203|0.4203	M|M	0.84219|0.84219	2.685|2.685	0.36299|0.36299	D|D	0.856885|0.856885	D;D|.	0.76494|.	0.999;0.999|.	D;P|.	0.66847|.	0.947;0.886|.	D|D	0.84277|0.84277	0.0492|0.0492	10|5	0.22706|.	T|.	0.39|.	-16.3948|-16.3948	15.4486|15.4486	0.75253|0.75253	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	399;399|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	T|R	365;320|337	ENSP00000400258:K320T|.	ENSP00000348366:K365T|.	K|S	+|+	2|1	0|0	DLGAP2|DLGAP2	1485225|1485225	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.176000|0.176000	0.22953|0.22953	6.660000|6.660000	0.74417|0.74417	2.040000|2.040000	0.60383|0.60383	0.533000|0.533000	0.62120|0.62120	AAG|AGC	DLGAP2	-	NULL	ENSG00000198010		0.627	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0	43	0	A	NM_004745		1497818	1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	C	C	1497818	A	C	1497818	3	2	69	1	0	0	0	0	1	0	0	0	4574	72	3	4	961	4	DLGAP2	8	1497818	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		1497818	144866204	113	18789											
CSMD1	64478	genome.wustl.edu	37	chr8	3855585	3855585	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaagtgcgggctggAgatggagctgctggtcccgc	7	7	19	8	2	0	2	0	1	0	1	1	5	1	4	1	5	3	3	1	5	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:3855585A>C	ENST00000520002.1	-	5	1213	c.658T>G	c.(658-660)Tcc>Gcc	p.S220A	CSMD1_ENST00000542608.1_Missense_Mutation_p.S220A|CSMD1_ENST00000400186.3_Missense_Mutation_p.S220A|CSMD1_ENST00000602557.1_Missense_Mutation_p.S220A|CSMD1_ENST00000539096.1_Missense_Mutation_p.S220A|CSMD1_ENST00000537824.1_Missense_Mutation_p.S220A|CSMD1_ENST00000602723.1_Missense_Mutation_p.S220A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	220	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCGGGCTGGAGATGGAGCTG	0.567																																																	0													41	43	42					8																	3855585		2101	4258	6359	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.658T>G	8.37:g.3855585A>C	ENSP00000430733:p.Ser220Ala		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S220A	ENST00000520002.1	37	c.658		8	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259441	0.39995	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.45	5.45	0.79879	.	0.000000	0.27336	U	0.019839	T	0.16854	0.0405	L	0.44542	1.39	0.25763	N	0.984926	B	0.23735	0.09	B	0.27715	0.082	T	0.16482	-1.0401	10	0.17369	T	0.5	-25.9043	14.6967	0.69126	1.0:0.0:0.0:0.0	.	220	E5RIG2	.	A	220;220;82;220;220;220	ENSP00000383047:S220A;ENSP00000430733:S220A;ENSP00000441462:S220A;ENSP00000446243:S220A;ENSP00000441675:S220A	ENSP00000320445:S82A	S	-	1	0	CSMD1	3842993	0.984000	0.35163	0.985000	0.45067	0.931000	0.56810	2.434000	0.44802	2.063000	0.61619	0.533000	0.62120	TCC	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	55	0	A	NM_033225		3855585	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	33.33	44	22	SNP	0.985	C	C	3855585	A	C	3855585	3	2	69	1	0	0	0	0	1	0	0	0	3953	304	11	4	10113	4	CSMD1	8	3855585	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	2357767	3855585	142508437	114	18790											
RP1L1	94137	genome.wustl.edu	37	chr8	10466111	10466111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccggggcctctatgccttCggccccatcactctgtcctg	3	11	9	18	2	3	0	1	0	2	0	6	0	5	0	6	3	1	0	6	3	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:10466111C>T	ENST00000382483.3	-	4	5720	c.5497G>A	c.(5497-5499)Gaa>Aaa	p.E1833K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1913					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTATGCCTTCGGCCCCATCA	0.627																																																	0													147	164	159					8																	10466111		2008	4160	6168	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5497G>A	8.37:g.10466111C>T	ENSP00000371923:p.Glu1833Lys		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.E1833K	ENST00000382483.3	37	c.5497	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	9.510	1.105387	0.20632	.	.	ENSG00000183638	ENST00000382483	T	0.04049	3.72	3.96	0.953	0.19590	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	P	0.35011	0.48	B	0.15484	0.013	T	0.47209	-0.9135	9	0.30078	T	0.28	6.2257	3.7972	0.08744	0.0:0.4886:0.1845:0.3268	.	1833	A6NKC6	.	K	1833	ENSP00000371923:E1833K	ENSP00000371923:E1833K	E	-	1	0	RP1L1	10503521	.	.	0.000000	0.03702	0.009000	0.06853	.	.	-0.141000	0.11374	0.455000	0.32223	GAA	RP1L1	-	NULL	ENSG00000183638		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	70	0	C			10466111	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	9.26	97	10	SNP	0.000	T	T	10466111	C	T	10466111	3	4	69	1	0	0	0	0	1	0	0	0	13578	893	31	1	1709	1	RP1L1	8	10466111	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	6610526	10466111	135897911	115	18791											
PIWIL2	55124	genome.wustl.edu	37	chr8	22167540	22167540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcgtttatcacatctcagGaactaaactgggttaaggaa	13	12	8	8	1	2	0	2	0	1	0	4	2	2	2	0	3	2	2	0	3	6	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:22167540G>A	ENST00000454009.2	+	15	2262	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E585K|PIWIL2_ENST00000356766.6_Missense_Mutation_p.E585K	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	585					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CACATCTCAGGAACTAAACTG	0.383																																																	0													123	123	123					8																	22167540		2203	4300	6503	SO:0001583	missense	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1753G>A	8.37:g.22167540G>A	ENSP00000406956:p.Glu585Lys		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.E585K	ENST00000454009.2	37	c.1753	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777403	0.49786	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.05855	3.38;3.38;3.38	6.03	6.03	0.97812	Ribonuclease H-like (1);	0.251786	0.43747	D	0.000526	T	0.09158	0.0226	M	0.62723	1.935	0.37899	D	0.930986	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.19224	-1.0312	10	0.06891	T	0.86	-17.3717	17.4736	0.87653	0.0:0.0:1.0:0.0	.	585;585	E7ECA4;Q8TC59	.;PIWL2_HUMAN	K	585	ENSP00000349208:E585K;ENSP00000428267:E585K;ENSP00000406956:E585K	ENSP00000349208:E585K	E	+	1	0	PIWIL2	22223485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.267000	0.78462	2.861000	0.98227	0.655000	0.94253	GAA	PIWIL2	-	superfamily_RNaseH-like_dom	ENSG00000197181		0.383	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	-	0	26	0	G			22167540	1	tier1	-	no_errors	ENST00000356766	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	A	A	22167540	G	A	22167540	3	1	69	1	0	0	0	0	1	0	0	0	11997	1175	41	3	1807	3	PIWIL2	8	22167540	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	11701429	22167540	124196482	116	18792											
LOXL2	4017	genome.wustl.edu	37	chr8	23190975	23190975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagacctgcccaggcAcacaactcaccacggccggt	10	4	11	16	2	1	2	1	1	0	1	1	2	1	2	4	4	2	2	4	4	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:23190975A>T	ENST00000389131.3	-	5	1274	c.905T>A	c.(904-906)gTg>gAg	p.V302E	RP11-177H13.2_ENST00000519692.1_RNA|LOXL2_ENST00000518472.1_5'UTR	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	302	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTGCCCAGGCACACAACTCAC	0.627																																																	0													115	100	105					8																	23190975		2203	4300	6503	SO:0001583	missense	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.905T>A	8.37:g.23190975A>T	ENSP00000373783:p.Val302Glu		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.V302E	ENST00000389131.3	37	c.905	CCDS34864.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	25.8|25.8	4.676445|4.676445	0.88445|0.88445	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000520349|ENST00000389131	.|T	.|0.61158	.|0.13	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Speract/scavenger receptor (1);Speract/scavenger receptor-related (2);	.|0.221390	.|0.47455	.|D	.|0.000222	T|T	0.66742|0.66742	0.2820|0.2820	M|M	0.82716|0.82716	2.605|2.605	0.45747|0.45747	D|D	0.998641|0.998641	.|B	.|0.22480	.|0.07	.|B	.|0.39339	.|0.297	T|T	0.66456|0.66456	-0.5919|-0.5919	5|10	.|0.41790	.|T	.|0.15	.|.	9.7009|9.7009	0.40187|0.40187	0.9225:0.0:0.0775:0.0|0.9225:0.0:0.0775:0.0	.|.	.|302	.|Q9Y4K0	.|LOXL2_HUMAN	S|E	12|302	.|ENSP00000373783:V302E	.|ENSP00000373783:V302E	C|V	-|-	1|2	0|0	LOXL2|LOXL2	23246920|23246920	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	6.267000|6.267000	0.72546|0.72546	2.282000|2.282000	0.76494|0.76494	0.525000|0.525000	0.51046|0.51046	TGC|GTG	LOXL2	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000134013		0.627	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1		0	30	0	A			23190975	-1			no_errors	ENST00000389131	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	23190975	A	T	23190975	3	4	69	1	0	0	0	0	1	0	0	0	8935	159	6	5	1459	5	LOXL2	8	23190975	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	1023435	23190975	123173047	117	18793											
ADAMDEC1	27299	genome.wustl.edu	37	chr8	24261565	24261565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacgtgtaaactgaagcctgGaactgattgcggaggagatg	13	8	14	6	2	0	3	0	2	0	1	0	6	0	5	1	3	5	1	1	3	5	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:24261565G>T	ENST00000256412.4	+	13	1590	c.1370G>T	c.(1369-1371)gGa>gTa	p.G457V	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G378V|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.G378V	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	457	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CTGAAGCCTGGAACTGATTGC	0.413																																					Ovarian(147;687 1849 3699 25981 31337)												0													222	200	208					8																	24261565		2203	4300	6503	SO:0001583	missense	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1370G>T	8.37:g.24261565G>T	ENSP00000256412:p.Gly457Val		B7ZAK5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.G457V	ENST00000256412.4	37	c.1370	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669833	0.29693	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.14144	2.53;2.53;2.53	5.6	-5.69	0.02428	Blood coagulation inhibitor, Disintegrin (3);	1.710180	0.02656	N	0.107038	T	0.35008	0.0917	M	0.85197	2.74	0.09310	N	0.999999	D	0.61697	0.99	P	0.61275	0.886	T	0.55405	-0.8146	10	0.62326	D	0.03	0.2257	8.8094	0.34959	0.6592:0.1133:0.2275:0.0	.	457	O15204	ADEC1_HUMAN	V	457;378;378	ENSP00000256412:G457V;ENSP00000442592:G378V;ENSP00000428993:G378V	ENSP00000256412:G457V	G	+	2	0	ADAMDEC1	24317510	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.201000	0.09464	-0.903000	0.03881	-0.455000	0.05494	GGA	ADAMDEC1	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin	ENSG00000134028		0.413	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	-	0	67	0	G	NM_014479		24261565	1	tier1	-	no_errors	ENST00000256412	ensembl	human	known	74_37	missense	6.09	108	7	SNP	0.000	T	T	24261565	G	T	24261565	3	4	69	1	0	0	0	0	1	0	0	0	254	1174	41	3	1420	3	ADAMDEC1	8	24261565	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1070590	24261565	122102457	118	18794											
LETM2	137994	genome.wustl.edu	37	chr8	38250325	38250325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatccacaggtgacaagcCctcaggccacaaaagaaact	17	4	7	13	0	1	2	1	1	0	1	2	2	2	2	3	2	3	0	3	2	5	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:38250325C>A	ENST00000379957.4	+	3	440	c.313C>A	c.(313-315)Cct>Act	p.P105T	LETM2_ENST00000519476.2_Missense_Mutation_p.P105T|LETM2_ENST00000297720.5_Missense_Mutation_p.P58T|LETM2_ENST00000523983.2_Missense_Mutation_p.P58T|LETM2_ENST00000524874.1_Missense_Mutation_p.P105T	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	105						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GGTGACAAGCCCTCAGGCCAC	0.403																																																	0													54	53	53					8																	38250325		2203	4300	6503	SO:0001583	missense	0			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.313C>A	8.37:g.38250325C>A	ENSP00000369291:p.Pro105Thr		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	pfam_LETM1	p.P105T	ENST00000379957.4	37	c.313		8	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546029	0.27652	.	.	ENSG00000165046	ENST00000527334;ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000526356	.	.	.	5.75	1.69	0.24217	.	0.231039	0.44902	N	0.000419	T	0.28863	0.0716	M	0.68952	2.095	0.09310	N	0.999997	P;B;P	0.38922	0.544;0.007;0.651	B;B;B	0.37387	0.162;0.008;0.248	T	0.14144	-1.0483	9	0.35671	T	0.21	.	2.3698	0.04328	0.2291:0.4253:0.2051:0.1406	.	105;105;105	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	T	105;105;58;105;105;58;105	.	ENSP00000297720:P58T	P	+	1	0	LETM2	38369482	0.000000	0.05858	0.655000	0.29622	0.026000	0.11368	0.041000	0.13927	0.340000	0.23745	-0.140000	0.14226	CCT	LETM2	-	NULL	ENSG00000165046		0.403	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	HGNC	protein_coding	OTTHUMT00000381816.1		0	16	0	C	NM_144652		38250325	1			no_errors	ENST00000379957	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.002	A	A	38250325	C	A	38250325	3	1	69	1	0	0	0	0	1	0	0	0	8763	623	22	3	174	3	LETM2	8	38250325	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	13988760	38250325	108113697	119	18795											
SFRP1	6422	genome.wustl.edu	37	chr8	41122735	41122735	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcatggtttttcattttcTtcatgaagtttttgaactcc	8	20	5	8	0	4	2	3	2	1	0	5	2	5	2	1	1	1	2	1	1	2	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:41122735T>G	ENST00000220772.3	-	3	1233	c.896A>C	c.(895-897)aAg>aCg	p.K299T	SFRP1_ENST00000379845.3_Missense_Mutation_p.K163T	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	299	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TTTCATTTTCTTCATGAAGTT	0.547																																																	0													64	56	58					8																	41122735		2203	4300	6503	SO:0001583	missense	0			AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"Secreted frizzled-related proteins"	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.896A>C	8.37:g.41122735T>G	ENSP00000220772:p.Lys299Thr		O00546|O14779	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.K299T	ENST00000220772.3	37	c.896	CCDS34886.1	8	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204516	0.58234	.	.	ENSG00000104332	ENST00000220772;ENST00000379845;ENST00000535263	T;T	0.25749	1.78;1.78	4.7	3.55	0.40652	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.061993	0.64402	D	0.000010	T	0.43942	0.1270	M	0.72894	2.215	0.53688	D	0.999974	D	0.76494	0.999	D	0.68943	0.961	T	0.33624	-0.9861	10	0.72032	D	0.01	.	7.1033	0.25351	0.0:0.1748:0.0:0.8252	.	299	Q8N474	SFRP1_HUMAN	T	299;163;299	ENSP00000220772:K299T;ENSP00000369174:K163T	ENSP00000220772:K299T	K	-	2	0	SFRP1	41241892	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.129000	0.71657	0.840000	0.34995	-0.371000	0.07208	AAG	SFRP1	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000104332		0.547	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP1	HGNC	protein_coding	OTTHUMT00000377132.1	-	0	62	0	T	NM_003012		41122735	-1	tier1	-	no_errors	ENST00000220772	ensembl	human	known	74_37	missense	16.05	68	13	SNP	1.000	G	G	41122735	T	G	41122735	3	3	69	1	0	0	0	0	1	0	0	0	14206	1609	56	4	52	4	SFRP1	8	41122735	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	2872410	41122735	105241287	120	18796											
MYST3	7994	genome.wustl.edu	37	chr8	41798620	41798620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtttcccgtcctggcttgGctgctcctcagaagccacca	6	10	10	15	1	1	1	1	0	0	1	4	1	4	1	5	3	2	4	5	3	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:41798620G>A	ENST00000396930.3	-	16	3322	c.2779C>T	c.(2779-2781)Cca>Tca	p.P927S	KAT6A_ENST00000265713.2_Missense_Mutation_p.P927S|KAT6A_ENST00000406337.1_Missense_Mutation_p.P927S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	927					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCCTGGCTTGGCTGCTCCTCA	0.537																																																	0													81	78	79					8																	41798620		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2779C>T	8.37:g.41798620G>A	ENSP00000380136:p.Pro927Ser		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P927S	ENST00000396930.3	37	c.2779	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	2.506	-0.314094	0.05422	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721	T;T;T	0.58210	0.35;0.35;0.35	5.19	1.95	0.26073	.	0.902446	0.09541	N	0.788339	T	0.24928	0.0605	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.28744	-1.0034	10	0.05833	T	0.94	-0.2712	0.2094	0.00154	0.2952:0.2101:0.2812:0.2134	.	927	Q92794	KAT6A_HUMAN	S	927;927;927;507	ENSP00000265713:P927S;ENSP00000385888:P927S;ENSP00000380136:P927S	ENSP00000265713:P927S	P	-	1	0	KAT6A	41917777	0.472000	0.25870	0.337000	0.25536	0.001000	0.01503	0.768000	0.26590	0.575000	0.29434	0.655000	0.94253	CCA	KAT6A	-	NULL	ENSG00000083168		0.537	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0	43	0	G	NM_006766		41798620	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.126	A	A	41798620	G	A	41798620	3	1	69	1	0	0	0	0	1	0	0	0	10142	1203	42	3	3247	3	MYST3	8	41798620	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	675885	41798620	104565402	121	18797											
PXDNL	137902	genome.wustl.edu	37	chr8	52320958	52320958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggaacggaaggtggccttCggaaatttcacctaaggtgg	11	9	14	7	2	1	0	1	0	0	0	2	3	1	3	2	7	1	0	2	7	4	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:52320958C>T	ENST00000356297.4	-	17	3326	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E1076K	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1076					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGTGGCCTTCGGAAATTTCA	0.483																																																	0													58	61	60					8																	52320958		1898	4119	6017	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3226G>A	8.37:g.52320958C>T	ENSP00000348645:p.Glu1076Lys		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.E1076K	ENST00000356297.4	37	c.3226	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963471	0.34659	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68181	-0.31;-0.31	3.82	1.35	0.21983	.	0.380701	0.21947	N	0.066787	T	0.60104	0.2243	L	0.56199	1.76	0.27967	N	0.936562	P	0.51791	0.948	P	0.46659	0.523	T	0.56950	-0.7894	10	0.72032	D	0.01	.	4.7481	0.13047	0.0:0.4436:0.3803:0.176	.	1076	A1KZ92	PXDNL_HUMAN	K	1076	ENSP00000348645:E1076K;ENSP00000444865:E1076K	ENSP00000348645:E1076K	E	-	1	0	PXDNL	52483511	0.801000	0.28930	0.200000	0.23457	0.106000	0.19336	0.995000	0.29706	-0.076000	0.12775	0.655000	0.94253	GAA	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.483	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	38	0	C	NM_144651		52320958	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	23.08	30	9	SNP	0.989	T	T	52320958	C	T	52320958	3	4	69	1	0	0	0	0	1	0	0	0	12893	893	31	1	1193	1	PXDNL	8	52320958	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	10522338	52320958	94043064	122	18798											
RGS20	8601	genome.wustl.edu	37	chr8	54791923	54791923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttctctcaccttctcCggcgaccccctcccgaggct	3	11	8	19	3	4	0	1	0	3	0	7	2	5	0	5	3	0	2	5	3	0	3	rs141996990		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:54791923C>T	ENST00000297313.3	+	2	363	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RGS20_ENST00000276500.4_5'Flank|RGS20_ENST00000344277.6_Intron|RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000522225.1_5'Flank	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	91					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TCACCTTCTCCGGCGACCCCC	0.721																																																	0								C	TRP/ARG	0,4406		0,0,2203	52	66	61		271	4.4	1	8	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	missense	RGS20	NM_170587.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	91/389	54791923	2,13004	2203	4300	6503	SO:0001583	missense	0			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"Regulators of G-protein signaling"	14600	protein-coding gene	gene with protein product		607193	"regulator of G-protein signalling 20"			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.271C>T	8.37:g.54791923C>T	ENSP00000297313:p.Arg91Trp		Q96BG9	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R91W	ENST00000297313.3	37	c.271	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044404	0.55110	0.0	2.33E-4	ENSG00000147509	ENST00000297313	T	0.55930	0.49	4.37	4.37	0.52481	.	.	.	.	.	T	0.43567	0.1253	L	0.47716	1.5	0.80722	D	1	B	0.18610	0.029	B	0.08055	0.003	T	0.47446	-0.9117	9	0.87932	D	0	.	8.1238	0.30986	0.0:0.8931:0.0:0.1069	.	91	O76081	RGS20_HUMAN	W	91	ENSP00000297313:R91W	ENSP00000297313:R91W	R	+	1	2	RGS20	54954476	0.354000	0.24912	0.990000	0.47175	0.859000	0.49053	1.398000	0.34554	2.269000	0.75478	0.561000	0.74099	CGG	RGS20	-	NULL	ENSG00000147509		0.721	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	HGNC	protein_coding	OTTHUMT00000380058.1		0	41	0	C			54791923	1			no_errors	ENST00000297313	ensembl	human	known	74_37	missense	7.27	50	4	SNP	0.895	T	T	54791923	C	T	54791923	3	4	69	1	0	0	0	0	1	0	0	0	13348	643	23	1	277	1	RGS20	8	54791923	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	2470965	54791923	91572099	123	18799											
LRRC67	286187	genome.wustl.edu	37	chr8	67926793	67926793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaattatcatataaatatAaaacactaagatttttgcaa	20	14	2	5	0	1	1	1	0	0	1	1	1	1	1	0	0	3	1	0	0	11	9			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:67926793A>G	ENST00000324682.5	-	3	308	c.164T>C	c.(163-165)tTa>tCa	p.L55S	PPP1R42_ENST00000522909.1_Missense_Mutation_p.L55S|PPP1R42_ENST00000517834.1_Intron	NM_001013626.2	NP_001013648.1	Q7Z4L9	PPR42_HUMAN	protein phosphatase 1, regulatory subunit 42	55					regulation of phosphatase activity (GO:0010921)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)	actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631)										ATATAAATATAAAACACTAAG	0.289																																																	0													51	60	57					8																	67926793		2196	4288	6484	SO:0001583	missense	0			BC055413	CCDS34902.1	8q13.1-q13.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000178125	ENSG00000178125		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	33732	protein-coding gene	gene with protein product	"testis leucine-rich repeat"		"leucine rich repeat containing 67"	LRRC67			Standard	NM_001013626		Approved	dtr, TLLR	uc003xxc.3	Q7Z4L9	OTTHUMG00000164745	ENST00000324682.5:c.164T>C	8.37:g.67926793A>G	ENSP00000315035:p.Leu55Ser			Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.L55S	ENST00000324682.5	37	c.164	CCDS34902.1	8	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620991	0.87460	.	.	ENSG00000178125	ENST00000522909;ENST00000421742;ENST00000324682	T;T	0.67698	0.26;-0.28	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	H	0.99011	4.4	0.52099	D	0.999946	D	0.89917	1.0	D	0.91635	0.999	D	0.93677	0.6995	10	0.87932	D	0	-5.8764	16.0711	0.80936	1.0:0.0:0.0:0.0	.	55	Q7Z4L9-2	.	S	55	ENSP00000429721:L55S;ENSP00000315035:L55S	ENSP00000315035:L55S	L	-	2	0	LRRC67	68089347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.000000	0.93564	2.197000	0.70478	0.482000	0.46254	TTA	PPP1R42	-	NULL	ENSG00000178125		0.289	PPP1R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R42	HGNC	protein_coding	OTTHUMT00000380034.2		0	14	0	A	NM_001013626		67926793	-1			no_errors	ENST00000522909	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	G	G	67926793	A	G	67926793	3	3	69	1	0	0	0	0	1	0	0	0	9054	372	13	4	538	4	LRRC67	8	67926793	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	13134870	67926793	78437229	124	18800											
SULF1	23213	genome.wustl.edu	37	chr8	70476293	70476293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgactgtcagatcccCgaggttcagaggacggatac	9	9	12	11	3	2	2	2	0	0	2	4	6	3	4	2	3	1	2	2	3	1	3	rs376825615		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:70476293C>T	ENST00000260128.4	+	5	800	c.83C>T	c.(82-84)cCg>cTg	p.P28L	SULF1_ENST00000402687.4_Missense_Mutation_p.P28L|SULF1_ENST00000419716.3_Missense_Mutation_p.P28L|SULF1_ENST00000458141.2_Missense_Mutation_p.P28L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	28					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.P28Q(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTCAGATCCCCGAGGTTCAGA	0.483																																																	1	Substitution - Missense(1)	lung(1)						C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	157	144	148		83,83,83,83	2.1	0	8		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SULF1	NM_001128204.1,NM_001128205.1,NM_001128206.1,NM_015170.2	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign	28/872,28/872,28/872,28/872	70476293	1,13005	2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.83C>T	8.37:g.70476293C>T	ENSP00000260128:p.Pro28Leu		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.P28L	ENST00000260128.4	37	c.83	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	11.00	1.509971	0.27036	0.0	1.16E-4	ENSG00000137573	ENST00000525061;ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000534179;ENST00000528783;ENST00000525999	D;D;T;D;D;T;D	0.98862	-5.19;-5.19;0.97;-5.19;-5.19;0.96;-4.69	6.06	2.06	0.26882	.	0.300612	0.37095	N	0.002241	D	0.94745	0.8304	L	0.27053	0.805	0.20074	N	0.999936	B	0.02656	0.0	B	0.01281	0.0	D	0.85022	0.0912	10	0.11794	T	0.64	.	9.763	0.40543	0.5024:0.4335:0.0:0.0641	.	28	Q8IWU6	SULF1_HUMAN	L	28	ENSP00000403040:P28L;ENSP00000260128:P28L;ENSP00000432178:P28L;ENSP00000385704:P28L;ENSP00000390315:P28L;ENSP00000436949:P28L;ENSP00000431753:P28L	ENSP00000260128:P28L	P	+	2	0	SULF1	70638847	0.990000	0.36364	0.044000	0.18714	0.895000	0.52256	1.941000	0.40233	0.084000	0.17077	0.650000	0.86243	CCG	SULF1	-	pirsf_Extracellular_sulfatase	ENSG00000137573		0.483	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	81	0	C	NM_015170		70476293	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	13.38	122	19	SNP	0.143	T	T	70476293	C	T	70476293	3	4	69	1	0	0	0	0	1	0	0	0	15417	652	23	1	85	1	SULF1	8	70476293	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	2549500	70476293	75887729	125	18801											
ZFHX4	79776	genome.wustl.edu	37	chr8	77616566	77616566	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagcaaaggagataccCtgcaacgaatgtgccacttc	13	7	8	13	1	1	1	1	0	0	1	2	3	1	1	3	1	5	2	3	1	4	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:77616566C>A	ENST00000521891.2	+	2	691	c.243C>A	c.(241-243)ccC>ccA	p.P81P	ZFHX4_ENST00000455469.2_Silent_p.P81P|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.P81P|ZFHX4_ENST00000518282.1_Silent_p.P81P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGAGATACCCTGCAACGAAT	0.502										HNSCC(33;0.089)																																							0													161	161	161					8																	77616566		2084	4215	6299	SO:0001819	synonymous_variant	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.243C>A	8.37:g.77616566C>A			G3V138|Q18PS0|Q6ZN20	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P81	ENST00000521891.2	37	c.243	CCDS47878.2	8																																																																																			ZFHX4	-	smart_Znf_C2H2-like	ENSG00000091656		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	35	0	C	NM_024721		77616566	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	silent	10.91	49	6	SNP	1.000	A	A	77616566	C	A	77616566	2	1	69	1	0	0	0	0	0	0	0	1	17683	668	24	3		3	ZFHX4	8	77616566	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	7140273	77616566	68747456	126	18802											
ZFHX4	79776	genome.wustl.edu	37	chr8	77763524	77763524	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaactgagtgaagctgaacTtcaacagctatatgcctcct	12	11	8	10	0	1	4	1	4	0	0	2	4	2	4	2	0	6	2	2	0	6	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:77763524T>G	ENST00000521891.2	+	10	4815	c.4367T>G	c.(4366-4368)cTt>cGt	p.L1456R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1411R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1411R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1430R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGCTGAACTTCAACAGCTA	0.507										HNSCC(33;0.089)																																							0													43	41	42					8																	77763524		1989	4176	6165	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4367T>G	8.37:g.77763524T>G	ENSP00000430497:p.Leu1456Arg		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L1456R	ENST00000521891.2	37	c.4367	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370346	0.42003	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52983	0.64;0.68;0.65;0.64	5.01	3.86	0.44501	.	0.000000	0.39909	U	0.001229	T	0.40767	0.1130	N	0.22421	0.69	0.43863	D	0.996462	P;P;P	0.46220	0.61;0.874;0.729	B;P;P	0.48141	0.28;0.568;0.471	T	0.35226	-0.9797	10	0.72032	D	0.01	.	10.5029	0.44817	0.0:0.0759:0.0:0.9241	.	1411;1411;1456	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	1456;1456;1411;1411;1430	ENSP00000430497:L1456R;ENSP00000399605:L1411R;ENSP00000050961:L1411R;ENSP00000430848:L1430R	ENSP00000050961:L1411R	L	+	2	0	ZFHX4	77926079	1.000000	0.71417	0.986000	0.45419	0.906000	0.53458	7.868000	0.87116	0.955000	0.37878	0.449000	0.29647	CTT	ZFHX4	-	NULL	ENSG00000091656		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	39	0	T	NM_024721		77763524	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	77763524	T	G	77763524	3	3	69	1	0	0	0	0	1	0	0	0	17683	1609	56	4	4401	4	ZFHX4	8	77763524	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	146958	77763524	68600498	127	18803											
SNX16	64089	genome.wustl.edu	37	chr8	82727597	82727597	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaatggacccggtggaTcatccaaacaaagaaattct	16	9	7	9	1	3	1	2	0	1	1	4	3	4	3	2	3	1	0	2	3	5	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:82727597T>A	ENST00000345957.4	-	5	922	c.644A>T	c.(643-645)gAt>gTt	p.D215V	SNX16_ENST00000396330.2_Missense_Mutation_p.D215V|SNX16_ENST00000353788.4_Missense_Mutation_p.D186V|RP13-923O23.6_ENST00000524337.1_RNA	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	215	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ACCCGGTGGATCATCCAAACA	0.343																																																	0													95	85	88					8																	82727597		2203	4300	6503	SO:0001583	missense	0			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"Sorting nexins"	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.644A>T	8.37:g.82727597T>A	ENSP00000322652:p.Asp215Val		A8K4D8|Q658L0|Q8N4U3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.D215V	ENST00000345957.4	37	c.644	CCDS6234.1	8	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696712	0.88830	.	.	ENSG00000104497	ENST00000353788;ENST00000396330;ENST00000345957	T;T;T	0.57273	0.41;0.41;0.41	5.76	5.76	0.90799	Phox homologous domain (3);	0.044558	0.85682	D	0.000000	T	0.72366	0.3451	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.73975	-0.3813	10	0.49607	T	0.09	-20.3028	16.0723	0.80943	0.0:0.0:0.0:1.0	.	186;215	Q658L0;P57768	.;SNX16_HUMAN	V	186;215;215	ENSP00000322631:D186V;ENSP00000379621:D215V;ENSP00000322652:D215V	ENSP00000322652:D215V	D	-	2	0	SNX16	82890152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.350000	0.79385	2.199000	0.70637	0.528000	0.53228	GAT	SNX16	-	superfamily_Phox,pfscan_Phox	ENSG00000104497		0.343	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX16	HGNC	protein_coding	OTTHUMT00000379929.1		0	20	0	T	NM_022133		82727597	-1			no_errors	ENST00000345957	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	82727597	T	A	82727597	3	1	69	1	0	0	0	0	1	0	0	0	14932	1435	50	5	406	5	SNX16	8	82727597	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	4964073	82727597	63636425	128	18804											
CNGB3	54714	genome.wustl.edu	37	chr8	87755756	87755756	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttgctgagactgattacTtgggtgagagccttcttcat	7	15	12	7	0	2	3	1	3	1	2	2	5	2	3	1	2	3	2	1	2	1	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:87755756T>G	ENST00000320005.5	-	1	147	c.100A>C	c.(100-102)Agt>Cgt	p.S34R	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	34					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GACTGATTACTTGGGTGAGAG	0.398																																																	0													326	272	291					8																	87755756		2203	4300	6503	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.100A>C	8.37:g.87755756T>G	ENSP00000316605:p.Ser34Arg		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S34R	ENST00000320005.5	37	c.100	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922325	0.33908	.	.	ENSG00000170289	ENST00000320005	T	0.30182	1.54	5.96	-0.955	0.10356	.	0.166402	0.29699	N	0.011432	T	0.19685	0.0473	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12553	-1.0543	10	0.35671	T	0.21	.	5.571	0.17196	0.0:0.1779:0.477:0.3451	.	34	Q9NQW8	CNGB3_HUMAN	R	34	ENSP00000316605:S34R	ENSP00000316605:S34R	S	-	1	0	CNGB3	87824872	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.241000	0.18065	0.140000	0.18849	0.528000	0.53228	AGT	CNGB3	-	NULL	ENSG00000170289		0.398	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	71	0	T	NM_019098		87755756	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	14.08	122	20	SNP	0.000	G	G	87755756	T	G	87755756	3	3	69	1	0	0	0	0	1	0	0	0	3608	1609	56	4	2401	4	CNGB3	8	87755756	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	5028159	87755756	58608266	129	18805											
CSMD3	114788	genome.wustl.edu	37	chr8	113249528	113249528	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgtttccttcctttgaaAttgtaagagcctttccatat	8	18	7	8	0	0	2	0	1	0	1	3	2	3	2	4	1	1	3	4	1	3	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:113249528A>C	ENST00000297405.5	-	67	10762	c.10518T>G	c.(10516-10518)aaT>aaG	p.N3506K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N3466K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3436K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3337K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3506						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCTTTGAAATTGTAAGAGC	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													162	148	153					8																	113249528		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10518T>G	8.37:g.113249528A>C	ENSP00000297405:p.Asn3506Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.N3506K	ENST00000297405.5	37	c.10518	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153785	0.38021	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.23950	2.2;2.2;2.21;1.88;2.21	4.77	2.38	0.29361	.	0.152378	0.42548	D	0.000693	T	0.14830	0.0358	L	0.29908	0.895	0.36294	D	0.856563	B;B;B	0.33883	0.43;0.19;0.178	B;B;B	0.33454	0.164;0.05;0.108	T	0.17745	-1.0359	10	0.10636	T	0.68	.	8.75	0.34609	0.7707:0.0:0.2293:0.0	.	3337;3506;3466	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3466;3506;2776;3337;3436	ENSP00000345799:N3466K;ENSP00000297405:N3506K;ENSP00000341558:N2776K;ENSP00000412263:N3337K;ENSP00000343124:N3436K	ENSP00000297405:N3506K	N	-	3	2	CSMD3	113318704	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	0.863000	0.27913	0.330000	0.23485	0.383000	0.25322	AAT	CSMD3	-	NULL	ENSG00000164796		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	58	0	A	NM_052900		113249528	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	32.86	47	23	SNP	1.000	C	C	113249528	A	C	113249528	3	2	69	1	0	0	0	0	1	0	0	0	3955	98	4	4	625	4	CSMD3	8	113249528	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	25493772	113249528	33114494	130	18806											
TRPS1	7227	genome.wustl.edu	37	chr8	116430667	116430667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattggcacaaaaaacaccgGagcctctacgcctctgaaac	15	6	7	13	2	2	1	0	1	2	0	2	2	2	2	3	2	4	1	3	2	6	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:116430667G>T	ENST00000220888.5	-	5	2834	c.2675C>A	c.(2674-2676)tCc>tAc	p.S892Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.S896Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.S905Y|TRPS1_ENST00000519076.1_Missense_Mutation_p.S646Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	892					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AAAAACACCGGAGCCTCTACG	0.478									Langer-Giedion syndrome																																								0													102	103	103					8																	116430667		1912	4121	6033	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2675C>A	8.37:g.116430667G>T	ENSP00000220888:p.Ser892Tyr		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.S905Y	ENST00000220888.5	37	c.2714		8	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768210	0.49680	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.99671	-6.35;-6.35;-6.35;-6.35	5.81	5.81	0.92471	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (3);	0.129302	0.53938	D	0.000043	D	0.99275	0.9747	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.99906	1.1179	10	0.87932	D	0	.	20.0805	0.97772	0.0:0.0:1.0:0.0	.	896;892;905	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	Y	905;892;646;896	ENSP00000379065:S905Y;ENSP00000220888:S892Y;ENSP00000428910:S646Y;ENSP00000428680:S896Y	ENSP00000220888:S892Y	S	-	2	0	TRPS1	116499843	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	6.110000	0.71535	2.755000	0.94549	0.650000	0.86243	TCC	TRPS1	-	smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	ENSG00000104447		0.478	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	17	0	G	NM_014112		116430667	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.996	T	T	116430667	G	T	116430667	3	4	69	1	0	0	0	0	1	0	0	0	16641	1174	41	3	1178	3	TRPS1	8	116430667	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3181139	116430667	29933355	131	18807											
GSDMC	56169	genome.wustl.edu	37	chr8	130762254	130762254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccattatggcttcaaggaGataaagaatggggtcctttg	12	11	11	7	0	1	2	1	0	0	2	2	3	2	2	2	4	0	1	2	4	5	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:130762254G>C	ENST00000276708.4	-	12	2076	c.1195C>G	c.(1195-1197)Ctc>Gtc	p.L399V		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	399						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GCTTCAAGGAGATAAAGAATG	0.458																																																	0													43	43	43					8																	130762254		2203	4300	6503	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1195C>G	8.37:g.130762254G>C	ENSP00000276708:p.Leu399Val		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.L399V	ENST00000276708.4	37	c.1195	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	8.723	0.914871	0.17907	.	.	ENSG00000147697	ENST00000276708	T	0.32988	1.43	4.54	1.26	0.21427	.	0.532223	0.17067	N	0.188305	T	0.43122	0.1233	M	0.64567	1.98	0.09310	N	1	D	0.71674	0.998	D	0.66716	0.946	T	0.13683	-1.0500	10	0.42905	T	0.14	.	5.1866	0.15187	0.1039:0.0:0.4164:0.4797	.	399	Q9BYG8	GSDMC_HUMAN	V	399	ENSP00000276708:L399V	ENSP00000276708:L399V	L	-	1	0	GSDMC	130831436	0.169000	0.23002	0.038000	0.18304	0.044000	0.14063	0.179000	0.16840	0.429000	0.26202	0.591000	0.81541	CTC	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.458	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	-	0	39	0	G			130762254	-1	tier1	-	no_errors	ENST00000276708	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.171	C	C	130762254	G	C	130762254	3	2	69	1	0	0	0	0	1	0	0	0	6845	942	33	5	343	5	GSDMC	8	130762254	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	14331587	130762254	15601768	132	18808											
MAF1	84232	genome.wustl.edu	37	chr8	145160670	145160670	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgcccacatcattggcagGtgaggcaggctgggggggct	7	7	18	9	0	1	1	1	1	0	0	1	2	1	1	1	7	1	4	1	7	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:145160670G>A	ENST00000322428.5	+	2	487		c.e2+1		MAF1_ENST00000534585.1_Splice_Site|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Splice_Site|KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000398712.2_5'Flank	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)						negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCATTGGCAGGTGAGGCAGGC	0.562																																																	0													66	64	65					8																	145160670		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.83+1G>A	8.37:g.145160670G>A			D3DWL4	Splice_Site	SNP	-	e1+1	ENST00000322428.5	37	c.83+1	CCDS6416.1	8	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195121	0.38806	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527572;ENST00000527058	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6671	0.62403	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAF1	145232658	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	4.285000	0.58989	2.285000	0.76669	0.462000	0.41574	.	MAF1	-	-	ENSG00000179632		0.562	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	-	0	22	0	G	NM_032272	Intron	145160670	1	tier1	-	no_errors	ENST00000322428	ensembl	human	known	74_37	splice_site	29.63	37	16	SNP	1.000	A	A	145160670	G	A	145160670	5	1	69	1	0	0	0	0	0	0	1	0	9192	1275	44	3	86	3	MAF1	8	145160670	Splice_Site	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	14398416	145160670	1203352	133	18809											
CPSF1	29894	genome.wustl.edu	37	chr8	145624696	145624696	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtggccagctgtgttccCgactgggcctcgctgccgta	4	10	14	13	3	0	0	0	0	0	0	2	1	1	0	4	3	2	4	4	3	2	3	rs370872969		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:145624696C>G	ENST00000349769.3	-	14	1456	c.1362G>C	c.(1360-1362)tcG>tcC	p.S454S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	454					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTGTGTTCCCGACTGGGCCT	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)												0													42	37	39					8																	145624696		2202	4300	6502	SO:0001819	synonymous_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1362G>C	8.37:g.145624696C>G			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.S454	ENST00000349769.3	37	c.1362	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	-	0	48	0	C	NM_013291		145624696	-1	tier1	-	no_errors	ENST00000349769	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.017	G	G	145624696	C	G	145624696	2	3	69	1	0	0	0	0	0	0	0	1	3831	639	23	5		5	CPSF1	8	145624696	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	464026	145624696	739326	134	18810											
RECQL4	9401	genome.wustl.edu	37	chr8	145739686	145739686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggctggagggaggcCtcccgcccccaccagtgcct	4	6	14	17	2	0	0	0	0	0	0	1	2	1	2	6	4	2	1	6	4	0	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr8:145739686C>T	ENST00000428558.2	-	11	1806	c.1765G>A	c.(1765-1767)Ggc>Agc	p.G589S	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	589	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGAGGGAGGCCTCCCGCCCCC	0.642			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																														yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	RecQ protein-like 4		M	0													24	31	29					8																	145739686		2092	4209	6301	SO:0001583	missense	0	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1765G>A	8.37:g.145739686C>T	ENSP00000475456:p.Gly589Ser		Q3Y424|Q96DW2|Q96F55	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.G589S	ENST00000428558.2	37	c.1765		8																																																																																			RECQL4	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000160957		0.642	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	RECQL4	HGNC	protein_coding		-	0	29	0	C	NM_004260		145739686	-1	tier1	-	no_errors	ENST00000428558	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.005	T	T	145739686	C	T	145739686	3	4	69	1	0	0	0	0	1	0	0	0	13247	681	24	3	1906	3	RECQL4	8	145739686	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	114990	145739686	624336	135	18811											
TOPORS	10210	genome.wustl.edu	37	chr9	32543529	32543529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacacaaatgcctgactctCcaagtcatagcgagtaacat	15	8	7	11	1	2	2	1	1	1	1	3	3	2	2	2	0	3	1	2	0	4	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr9:32543529C>T	ENST00000360538.2	-	3	1110	c.994G>A	c.(994-996)Gag>Aag	p.E332K	TOPORS_ENST00000379858.1_Missense_Mutation_p.E267K	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	332	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GCCTGACTCTCCAAGTCATAG	0.348																																																	0													54	53	54					9																	32543529		2203	4300	6503	SO:0001583	missense	0			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"RING-type (C3HC4) zinc fingers"	21653	protein-coding gene	gene with protein product		609507	"retinitis pigmentosa 31 (autosomal dominant)", "topoisomerase I binding, arginine/serine-rich"	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.994G>A	9.37:g.32543529C>T	ENSP00000353735:p.Glu332Lys		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E332K	ENST00000360538.2	37	c.994	CCDS6527.1	9	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720968	0.30503	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15834	2.39;2.39	5.93	5.03	0.67393	.	0.000000	0.51477	D	0.000095	T	0.13030	0.0316	N	0.19112	0.55	0.49798	D	0.999825	B	0.20052	0.041	B	0.20184	0.028	T	0.04991	-1.0913	10	0.44086	T	0.13	-21.0295	14.2231	0.65841	0.0:0.9272:0.0:0.0728	.	332	Q9NS56	TOPRS_HUMAN	K	332;267	ENSP00000353735:E332K;ENSP00000369187:E267K	ENSP00000353735:E332K	E	-	1	0	TOPORS	32533529	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	5.667000	0.68067	1.511000	0.48818	-0.150000	0.13652	GAG	TOPORS	-	NULL	ENSG00000197579		0.348	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOPORS	HGNC	protein_coding	OTTHUMT00000052007.1		0	22	0	C	NM_005802		32543529	-1			no_errors	ENST00000360538	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	32543529	C	T	32543529	3	4	69	1	0	0	0	0	1	0	0	0	16418	864	30	3	2147	3	TOPORS	9	32543529	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09		32543529	108669902	136	18812											
TLE4	7091	genome.wustl.edu	37	chr9	82335074	82335074	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggctccaaccccacgCatcaaggcagagctgacatc	10	5	10	16	2	1	2	1	1	0	1	3	2	2	2	3	3	2	4	3	3	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr9:82335074C>T	ENST00000376552.2	+	16	2722	c.1704C>T	c.(1702-1704)cgC>cgT	p.R568R	TLE4_ENST00000376520.4_Silent_p.R600R|TLE4_ENST00000376534.4_Silent_p.R205R|TLE4_ENST00000265284.6_Silent_p.R543R|TLE4_ENST00000376544.3_Silent_p.R499R|TLE4_ENST00000376537.4_Silent_p.R600R	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	568					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAACCCCACGCATCAAGGCAG	0.597																																																	0													63	62	62					9																	82335074		2203	4300	6503	SO:0001819	synonymous_variant	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"WD repeat domain containing"	11840	protein-coding gene	gene with protein product		605132	"transducin-like enhancer of split 4, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1704C>T	9.37:g.82335074C>T			F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R600	ENST00000376552.2	37	c.1800	CCDS43837.1	9																																																																																			TLE4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000106829		0.597	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	-	0	65	0	C	XM_212237		82335074	1	tier1	-	no_errors	ENST00000376520	ensembl	human	known	74_37	silent	25.45	41	14	SNP	0.959	T	T	82335074	C	T	82335074	2	4	69	1	0	0	0	0	0	0	0	1	15988	697	25	3		3	TLE4	9	82335074	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	49791545	82335074	58878357	137	18813											
TEX10	54881	genome.wustl.edu	37	chr9	103108371	103108371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaatttatgggtttcatCctgttgtttagagagtttcc	8	17	8	8	0	1	1	1	0	0	1	3	2	3	1	3	1	0	4	3	1	3	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr9:103108371C>A	ENST00000374902.4	-	4	1296	c.1120G>T	c.(1120-1122)Gat>Tat	p.D374Y	TEX10_ENST00000537512.1_Missense_Mutation_p.D309Y|TEX10_ENST00000535814.1_Missense_Mutation_p.D377Y	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	374						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGGGTTTCATCCTGTTGTTTA	0.353																																																	0													55	59	57					9																	103108371		2203	4299	6502	SO:0001583	missense	0			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1120G>T	9.37:g.103108371C>A	ENSP00000364037:p.Asp374Tyr		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D374Y	ENST00000374902.4	37	c.1120	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130669	0.56828	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000429235;ENST00000537512	.	.	.	5.46	5.46	0.80206	Armadillo-type fold (1);	0.105052	0.64402	D	0.000004	T	0.78123	0.4234	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	0.991;0.999;1.0;1.0;0.998	P;P;D;D;P	0.91635	0.77;0.87;0.988;0.999;0.861	T	0.77678	-0.2498	9	0.49607	T	0.09	-11.5434	19.2962	0.94122	0.0:1.0:0.0:0.0	.	309;377;242;242;374	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	Y	377;374;242;19;309	.	ENSP00000364037:D374Y	D	-	1	0	TEX10	102148192	1.000000	0.71417	0.982000	0.44146	0.988000	0.76386	6.153000	0.71819	2.558000	0.86282	0.561000	0.74099	GAT	TEX10	-	superfamily_ARM-type_fold	ENSG00000136891		0.353	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1		0	30	0	C	NM_017746		103108371	-1			no_errors	ENST00000374902	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	103108371	C	A	103108371	3	1	69	1	0	0	0	0	1	0	0	0	15819	855	30	3	1717	3	TEX10	9	103108371	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	20773297	103108371	38105060	138	18814											
SMC2	10592	genome.wustl.edu	37	chr9	106864245	106864245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatttctctttcaggaaaGatcgtcctacttggagtacc	9	14	9	9	1	2	2	1	1	1	1	5	4	3	4	2	2	2	1	2	2	3	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr9:106864245G>C	ENST00000286398.7	+	8	929	c.641G>C	c.(640-642)aGa>aCa	p.R214T	SMC2_ENST00000303219.8_Missense_Mutation_p.R214T|SMC2_ENST00000374787.3_Missense_Mutation_p.R214T|SMC2_ENST00000374793.3_Missense_Mutation_p.R214T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	214					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTTCAGGAAAGATCGTCCTAC	0.279																																																	0													68	74	72					9																	106864245		2182	4292	6474	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.641G>C	9.37:g.106864245G>C	ENSP00000286398:p.Arg214Thr		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.R214T	ENST00000286398.7	37	c.641	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954832	0.92726	.	.	ENSG00000136824	ENST00000286398;ENST00000440179;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T;T	0.79247	-1.25;3.3;-1.25;3.3;-1.25	5.86	5.86	0.93980	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.985;0.997	D	0.91173	0.4970	10	0.87932	D	0	-24.7139	19.1404	0.93444	0.0:0.0:1.0:0.0	.	214;214;214	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	T	214;69;214;214;214;214	ENSP00000286398:R214T;ENSP00000414999:R69T;ENSP00000363925:R214T;ENSP00000306152:R214T;ENSP00000363919:R214T	ENSP00000286398:R214T	R	+	2	0	SMC2	105904066	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.644000	0.98468	2.937000	0.99478	0.650000	0.86243	AGA	SMC2	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000136824		0.279	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1		0	30	0	G			106864245	1			no_errors	ENST00000286398	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	C	C	106864245	G	C	106864245	3	2	69	1	0	0	0	0	1	0	0	0	14828	942	33	5	667	5	SMC2	9	106864245	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3755874	106864245	34349186	139	18815											
C9orf152	401546	genome.wustl.edu	37	chr9	112969817	112969817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgagacctaagctgccAgaagtggggcagggctgggc	10	6	17	8	0	0	2	0	1	0	2	0	3	0	2	2	4	2	3	2	4	3	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr9:112969817A>G	ENST00000400613.4	-	1	652	c.43T>C	c.(43-45)Tgg>Cgg	p.W15R	C9orf152_ENST00000473442.1_5'Flank	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	15										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CTAAGCTGCCAGAAGTGGGGC	0.642																																																	0													28	32	31					9																	112969817		2203	4300	6503	SO:0001583	missense	0			BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.43T>C	9.37:g.112969817A>G	ENSP00000383456:p.Trp15Arg		A8MWT6	Missense_Mutation	SNP	NULL	p.W15R	ENST00000400613.4	37	c.43	CCDS35102.2	9	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030625	0.35797	.	.	ENSG00000188959	ENST00000400613	.	.	.	3.14	1.95	0.26073	.	.	.	.	.	T	0.26702	0.0653	N	0.24115	0.695	0.21416	N	0.999691	P	0.43701	0.815	P	0.45681	0.49	T	0.08743	-1.0707	7	.	.	.	-0.0722	6.4868	0.22093	0.7512:0.2488:0.0:0.0	.	15	Q5JTZ5	CI152_HUMAN	R	15	.	.	W	-	1	0	C9orf152	112009638	0.987000	0.35691	0.813000	0.32504	0.691000	0.40173	0.552000	0.23376	0.553000	0.29044	0.383000	0.25322	TGG	C9orf152	-	NULL	ENSG00000188959		0.642	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf152	HGNC	protein_coding	OTTHUMT00000053602.2		0	20	0	A	NM_001012993		112969817	-1			no_errors	ENST00000400613	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.852	G	G	112969817	A	G	112969817	3	3	69	1	0	0	0	0	1	0	0	0	2470	188	7	4	684	4	C9orf152	9	112969817	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	6105572	112969817	28243614	140	18816											
GSN	2934	genome.wustl.edu	37	chr9	124080951	124080951	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccctccccaggtctcggtCcttcctgagggcggtgagac	4	9	12	16	2	1	2	0	2	1	1	6	3	5	2	6	4	0	0	6	4	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr9:124080951C>A	ENST00000373818.4	+	9	1206	c.1137C>A	c.(1135-1137)gtC>gtA	p.V379V	GSN_ENST00000412819.1_Silent_p.V328V|GSN_ENST00000394353.2_Silent_p.V339V|GSN_ENST00000373807.1_Silent_p.V110V|GSN_ENST00000373808.2_Silent_p.V328V|GSN_ENST00000436847.1_Silent_p.V339V|GSN_ENST00000341272.2_Silent_p.V328V|GSN_ENST00000449733.1_Silent_p.V328V|GSN_ENST00000545652.1_Silent_p.V336V|GSN_ENST00000373823.3_Silent_p.V328V	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	379					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGTCTCGGTCCTTCCTGAGG	0.637																																																	0													36	39	38					9																	124080951		2203	4300	6503	SO:0001819	synonymous_variant	0			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"amyloidosis, Finnish type"	137350	"gelsolin (amyloidosis, Finnish type)"			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.1137C>A	9.37:g.124080951C>A			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.V379	ENST00000373818.4	37	c.1137	CCDS6828.1	9																																																																																			GSN	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	ENSG00000148180		0.637	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	-	0	67	0	C	NM_000177		124080951	1	tier1	-	no_errors	ENST00000373818	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.674	A	A	124080951	C	A	124080951	2	1	69	1	0	0	0	0	0	0	0	1	6852	842	30	3		3	GSN	9	124080951	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	11111134	124080951	17132480	141	18817											
SLC39A12	221074	genome.wustl.edu	37	chr10	18270308	18270308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcactcatttctaaggAggactttaagcaaatgagtc	12	12	7	10	0	3	1	2	1	2	0	5	3	3	3	1	2	1	1	1	2	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr10:18270308A>T	ENST00000377369.2	+	6	1265	c.992A>T	c.(991-993)gAg>gTg	p.E331V	SLC39A12_ENST00000377371.3_Missense_Mutation_p.E331V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E331V|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E197V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	331					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATTTCTAAGGAGGACTTTAAG	0.488																																																	0													88	83	84					10																	18270308		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.992A>T	10.37:g.18270308A>T	ENSP00000366586:p.Glu331Val		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.E331V	ENST00000377369.2	37	c.992	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773123	0.90108	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.64803	0.02;-0.12;0.01;-0.07	5.8	5.8	0.92144	.	0.141204	0.64402	D	0.000006	T	0.80259	0.4590	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.968;0.994	T	0.82408	-0.0472	10	0.59425	D	0.04	-12.0773	16.1499	0.81605	1.0:0.0:0.0:0.0	.	331;331;331	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	V	331;331;331;197;251	ENSP00000366586:E331V;ENSP00000366591:E331V;ENSP00000366588:E331V;ENSP00000440445:E197V	ENSP00000366586:E331V	E	+	2	0	SLC39A12	18310314	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.572000	0.90756	2.220000	0.72140	0.533000	0.62120	GAG	SLC39A12	-	NULL	ENSG00000148482		0.488	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	23	0	A	NM_152725		18270308	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T	T	18270308	A	T	18270308	3	4	69	1	0	0	0	0	1	0	0	0	14660	304	11	5	1010	5	SLC39A12	10	18270308	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		18270308	117264439	142	18818											
ZNF33A	7581	genome.wustl.edu	37	chr10	38343629	38343629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactcaagagaaaaatgaaGttttgaaaaataggaacaca	22	8	7	4	0	1	3	1	2	0	1	1	5	1	4	0	1	2	1	0	1	9	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr10:38343629G>A	ENST00000458705.2	+	5	732	c.574G>A	c.(574-576)Gtt>Att	p.V192I	ZNF33A_ENST00000307441.9_Missense_Mutation_p.V192I|ZNF33A_ENST00000374618.3_Missense_Mutation_p.V193I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.V199I			Q06730	ZN33A_HUMAN	zinc finger protein 33A	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GAAAAATGAAGTTTTGAAAAA	0.323																																																	0													69	69	69					10																	38343629		2203	4300	6503	SO:0001583	missense	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"Zinc fingers, C2H2-type", "-"	13096	protein-coding gene	gene with protein product	"zinc finger and ZAK associated protein with KRAB domain"	194521	"zinc finger protein 33a (KOX 31)", "zinc finger protein 11A"	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.574G>A	10.37:g.38343629G>A	ENSP00000387713:p.Val192Ile		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V199I	ENST00000458705.2	37	c.595	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	3.170	-0.170292	0.06461	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05513	3.43;3.44;3.44;3.44	1.68	-1.21	0.09524	.	1.273790	0.05825	N	0.616497	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B;B;B	0.28933	0.228;0.085;0.206	B;B;B	0.27076	0.058;0.026;0.076	T	0.45041	-0.9288	10	0.52906	T	0.07	.	6.9783	0.24688	0.0:0.0:0.4846:0.5154	.	199;192;193	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	I	193;199;192;192	ENSP00000363747:V193I;ENSP00000402467:V199I;ENSP00000387713:V192I;ENSP00000304268:V192I	ENSP00000304268:V192I	V	+	1	0	ZNF33A	38383635	0.006000	0.16342	0.013000	0.15412	0.031000	0.12232	-0.112000	0.10791	-0.312000	0.08741	-0.535000	0.04281	GTT	ZNF33A	-	NULL	ENSG00000189180		0.323	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	-	0	39	0	G	NM_006974		38343629	1	tier1	-	no_errors	ENST00000432900	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.050	A	A	38343629	G	A	38343629	3	1	69	1	0	0	0	0	1	0	0	0	17902	1029	36	3	591	3	ZNF33A	10	38343629	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	20073321	38343629	97191118	143	18819											
C10orf71	118461	genome.wustl.edu	37	chr10	50533184	50533184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacaacaccctcagagctaCccccgtaattaaacctatca	15	7	4	15	1	2	2	2	0	0	2	2	2	2	2	4	0	4	2	4	0	6	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr10:50533184C>T	ENST00000374144.3	+	3	2882	c.2594C>T	c.(2593-2595)aCc>aTc	p.T865I	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	865										endometrium(1)	1						CTCAGAGCTACCCCCGTAATT	0.507																																																	0													191	173	178					10																	50533184		692	1591	2283	SO:0001583	missense	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2594C>T	10.37:g.50533184C>T	ENSP00000363259:p.Thr865Ile		A0AVL8	Missense_Mutation	SNP	NULL	p.T865I	ENST00000374144.3	37	c.2594	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041514	0.55003	.	.	ENSG00000177354	ENST00000374144	T	0.05855	3.38	5.17	5.17	0.71159	.	0.000000	0.33980	U	0.004362	T	0.12475	0.0303	L	0.32530	0.975	0.80722	D	1	.	.	.	.	.	.	T	0.01889	-1.1253	8	0.59425	D	0.04	.	16.8381	0.85961	0.0:1.0:0.0:0.0	.	.	.	.	I	865	ENSP00000363259:T865I	ENSP00000363259:T865I	T	+	2	0	C10orf71	50203190	0.934000	0.31675	1.000000	0.80357	0.087000	0.18053	5.726000	0.68515	2.416000	0.81992	0.491000	0.48974	ACC	C10orf71	-	NULL	ENSG00000177354		0.507	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0	55	0	C	NM_199459		50533184	1	tier1	-	no_errors	ENST00000374144	ensembl	human	known	74_37	missense	39.13	28	18	SNP	1.000	T	T	50533184	C	T	50533184	3	4	69	1	0	0	0	0	1	0	0	0	1619	507	18	3	2596	3	C10orf71	10	50533184	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	12189555	50533184	85001563	144	18820											
BICC1	80114	genome.wustl.edu	37	chr10	60562964	60562964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagcaaaactccgaaaggGcccaccttgctccacggtca	11	5	8	17	2	1	0	1	0	0	0	3	1	3	0	5	2	3	2	5	2	3	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr10:60562964G>A	ENST00000373886.3	+	15	2147	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	BICC1_ENST00000263103.1_Missense_Mutation_p.A341T	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	715					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTCCGAAAGGGCCCACCTTGC	0.507																																																	0													49	48	48					10																	60562964		2203	4300	6503	SO:0001583	missense	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2143G>A	10.37:g.60562964G>A	ENSP00000362993:p.Ala715Thr			Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.A715T	ENST00000373886.3	37	c.2143	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013461	0.54468	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.46451	1.66;0.87	5.96	5.96	0.96718	.	0.154732	0.64402	D	0.000018	T	0.36524	0.0970	L	0.36672	1.1	0.43242	D	0.995154	P;B	0.35433	0.501;0.181	B;B	0.28139	0.086;0.024	T	0.16158	-1.0412	10	0.52906	T	0.07	-14.4593	20.4008	0.98991	0.0:0.0:1.0:0.0	.	635;715	E7EU62;Q9H694	.;BICC1_HUMAN	T	715;341	ENSP00000362993:A715T;ENSP00000263103:A341T	ENSP00000263103:A341T	A	+	1	0	BICC1	60232970	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.247000	0.65416	2.826000	0.97356	0.655000	0.94253	GCC	BICC1	-	NULL	ENSG00000122870		0.507	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0	15	0	G	NM_025044		60562964	1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A	A	60562964	G	A	60562964	3	1	69	1	0	0	0	0	1	0	0	0	1429	1203	42	3	2201	3	BICC1	10	60562964	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	10029780	60562964	74971783	145	18821											
SFTPA1	653509	genome.wustl.edu	37	chr10	81373718	81373718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagccctggagacttccGctactcagacgggacccctg	7	7	10	17	2	1	2	1	0	0	2	3	4	3	3	5	2	2	1	5	2	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr10:81373718G>C	ENST00000398636.3	+	6	734	c.596G>C	c.(595-597)cGc>cCc	p.R199P	SFTPA1_ENST00000419470.2_Missense_Mutation_p.R214P|SFTPA1_ENST00000372313.5_Missense_Mutation_p.R140P|SFTPA1_ENST00000372308.3_Missense_Mutation_p.R199P|SFTPA1_ENST00000428376.2_Missense_Mutation_p.R199P	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	199	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGAGACTTCCGCTACTCAGAC	0.547																																																	0													187	194	192					10																	81373718		2203	4296	6499	SO:0001583	missense	0			BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"Collectins"	10798	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A1A"	178630	"surfactant, pulmonary-associated protein A1"	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.596G>C	10.37:g.81373718G>C	ENSP00000381633:p.Arg199Pro		A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R214P	ENST00000398636.3	37	c.641	CCDS44445.1	10	.	.	.	.	.	.	.	.	.	.	.	9.915	1.210518	0.22289	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000372313;ENST00000419470;ENST00000394569	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	2.89	-3.46	0.04767	C-type lectin fold (2);C-type lectin-like (2);C-type lectin (6);	0.949363	0.08814	N	0.889736	T	0.28067	0.0692	M	0.79926	2.475	0.09310	N	1	P;P;P	0.50710	0.894;0.871;0.938	P;P;P	0.49502	0.613;0.479;0.613	T	0.17107	-1.0380	10	0.37606	T	0.19	-0.6015	3.9783	0.09484	0.5094:0.0:0.3329:0.1576	.	199;214;199	Q8IWL1;G5E9J3;Q8IWL2	SFPA2_HUMAN;.;SFTA1_HUMAN	P	199;199;199;140;214;199	ENSP00000361382:R199P;ENSP00000381633:R199P;ENSP00000411102:R199P;ENSP00000361387:R140P;ENSP00000397082:R214P	ENSP00000361382:R199P	R	+	2	0	SFTPA1	81043724	0.000000	0.05858	0.000000	0.03702	0.536000	0.34869	-1.911000	0.01583	-0.735000	0.04837	0.297000	0.19635	CGC	SFTPA1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000122852		0.547	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFTPA1	HGNC	protein_coding		-	0	59	0	G	NM_005411		81373718	1	tier1	-	no_errors	ENST00000419470	ensembl	human	known	74_37	missense	28.07	41	16	SNP	0.004	C	C	81373718	G	C	81373718	3	2	69	1	0	0	0	0	1	0	0	0	14234	1087	38	5	659	5	SFTPA1	10	81373718	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	20810754	81373718	54161029	146	18822											
PNLIPRP3	119548	genome.wustl.edu	37	chr10	118236293	118236293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaataagttgggagcAgaaatggtgataaatacatc	16	10	10	5	0	1	3	1	1	1	2	3	4	1	4	0	2	2	2	0	2	6	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr10:118236293A>G	ENST00000369230.3	+	11	1448	c.1302A>G	c.(1300-1302)gcA>gcG	p.A434A		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	434	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.A434A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AGTTGGGAGCAGAAATGGTGA	0.308																																																	1	Substitution - coding silent(1)	large_intestine(1)											93	98	96					10																	118236293		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1302A>G	10.37:g.118236293A>G				Silent	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc	p.A434	ENST00000369230.3	37	c.1302	CCDS31292.1	10																																																																																			PNLIPRP3	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH	ENSG00000203837		0.308	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIPRP3	HGNC	protein_coding	OTTHUMT00000050520.1	-	0	51	0	A	XM_058404		118236293	1	tier1	-	no_errors	ENST00000369230	ensembl	human	known	74_37	silent	29.31	41	17	SNP	1.000	G	G	118236293	A	G	118236293	2	3	69	1	0	0	0	0	0	0	0	1	12191	175	7	4		4	PNLIPRP3	10	118236293	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	36862575	118236293	17298454	147	18823											
HBB	3043	genome.wustl.edu	37	chr11	5247854	5247854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcacagtgcagctcacTcagtgtggcaaaggtgccct	8	10	11	12	0	3	0	3	0	0	0	3	0	3	0	1	2	3	3	1	2	1	1	rs35351128		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:5247854T>C	ENST00000335295.4	-	2	317	c.268A>G	c.(268-270)Agt>Ggt	p.S90G	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	90			S -> N (in Creteil; O(2) affinity up).|S -> R (in Vanderbilt; O(2) affinity up).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TGCAGCTCACTCAGTGTGGCA	0.522									Sickle Cell Trait																																								0													131	110	117					11																	5247854		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database		J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.268A>G	11.37:g.5247854T>C	ENSP00000333994:p.Ser90Gly		A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	p.S90G	ENST00000335295.4	37	c.268	CCDS7753.1	11	.	.	.	.	.	.	.	.	.	.	t	18.36	3.607568	0.66558	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.92647	-3.08;-3.08	5.24	5.24	0.73138	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.96188	0.8757	M	0.92604	3.325	0.58432	D	0.999991	D	0.65815	0.995	D	0.63703	0.917	D	0.96546	0.9404	9	0.87932	D	0	-14.8612	10.2825	0.43548	0.1479:0.0:0.0:0.852	.	90	P68871	HBB_HUMAN	G	90	ENSP00000333994:S90G;ENSP00000369671:S90G	ENSP00000333994:S90G	S	-	1	0	HBB	5204430	1.000000	0.71417	0.993000	0.49108	0.461000	0.32589	3.416000	0.52707	2.323000	0.78572	0.528000	0.53228	AGT	HBB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin	ENSG00000244734		0.522	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBB	HGNC	protein_coding	OTTHUMT00000142977.2	-	0	85	0	T	NM_000518		5247854	-1	tier1	-	no_errors	ENST00000335295	ensembl	human	known	74_37	missense	26.88	68	25	SNP	1.000	C	C	5247854	T	C	5247854	3	2	69	1	0	0	0	0	1	0	0	0	7005	1551	54	4	183	4	HBB	11	5247854	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09		5247854	129758662	148	18824											
UBQLNL	143630	genome.wustl.edu	37	chr11	5536298	5536298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatgtgggcagctgCtgcctccactgttcactcag	7	10	12	12	0	2	0	2	0	0	0	3	1	3	1	2	2	4	5	2	2	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:5536298C>A	ENST00000380184.1	-	1	1637	c.1374G>T	c.(1372-1374)caG>caT	p.Q458H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	458										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TGGGCAGCTGCTGCCTCCACT	0.498																																																	0													109	107	108					11																	5536298		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1374G>T	11.37:g.5536298C>A	ENSP00000369531:p.Gln458His		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.Q458H	ENST00000380184.1	37	c.1374	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	C	5.387	0.256571	0.10185	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.52983	0.64	5.82	1.95	0.26073	.	0.663319	0.12977	N	0.423605	T	0.59074	0.2167	L	0.54323	1.7	0.30699	N	0.750542	D	0.89917	1.0	D	0.87578	0.998	T	0.56001	-0.8051	10	0.51188	T	0.08	.	7.3434	0.26650	0.0:0.5969:0.0:0.4031	.	458	Q8IYU4	UBQLN_HUMAN	H	458;243	ENSP00000369531:Q458H	ENSP00000369531:Q458H	Q	-	3	2	UBQLNL	5492874	0.478000	0.25917	0.513000	0.27749	0.099000	0.18886	0.155000	0.16362	0.537000	0.28751	0.655000	0.94253	CAG	UBQLNL	-	NULL	ENSG00000175518		0.498	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	-	0	25	0	C	NM_145053		5536298	-1	tier1	-	no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	20.69	23	6	SNP	0.662	A	A	5536298	C	A	5536298	3	1	69	1	0	0	0	0	1	0	0	0	16949	796	28	3	57	3	UBQLNL	11	5536298	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	288444	5536298	129470218	149	18825											
ABCC8	6833	genome.wustl.edu	37	chr11	17415923	17415923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgtccctggctgaaattctCcccgccttctgtgatgatgg	5	13	10	13	1	2	3	0	3	2	0	4	3	3	3	4	2	0	1	4	2	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:17415923C>T	ENST00000389817.3	-	37	4503	c.4435G>A	c.(4435-4437)Gag>Aag	p.E1479K	ABCC8_ENST00000302539.4_Missense_Mutation_p.E1480K			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1479	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTGAAATTCTCCCCGCCTTCT	0.562																																																	0													67	66	66					11																	17415923		2200	4293	6493	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4435G>A	11.37:g.17415923C>T	ENSP00000374467:p.Glu1479Lys		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E1480K	ENST00000389817.3	37	c.4438	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	28.4	4.918429	0.92249	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.93488	-3.23;-3.23	5.12	4.21	0.49690	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.280522	0.33938	N	0.004409	D	0.89364	0.6694	N	0.16790	0.44	0.54753	D	0.999985	P	0.38148	0.62	B	0.43754	0.43	D	0.89652	0.3870	10	0.72032	D	0.01	.	13.4174	0.60976	0.0:0.9238:0.0:0.0762	.	1479	Q09428	ABCC8_HUMAN	K	1479;1480	ENSP00000374467:E1479K;ENSP00000303960:E1480K	ENSP00000303960:E1480K	E	-	1	0	ABCC8	17372499	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.759000	0.85235	1.147000	0.42369	0.557000	0.71058	GAG	ABCC8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000006071		0.562	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	58	0	C	NM_000352		17415923	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	17415923	C	T	17415923	3	4	69	1	0	0	0	0	1	0	0	0	58	864	30	3	322	3	ABCC8	11	17415923	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	11879625	17415923	117590593	150	18826											
IGSF22	283284	genome.wustl.edu	37	chr11	18737090	18737090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcatcctcaatgatcagctCtgctcgcttgccctcatggt	6	13	8	14	1	4	1	3	1	1	0	6	1	5	1	2	1	4	4	2	1	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:18737090C>G	ENST00000513874.1	-	11	1559	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	474	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATGATCAGCTCTGCTCGCTTG	0.532																																																	0													133	130	131					11																	18737090		2197	4289	6486	SO:0001583	missense	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1420G>C	11.37:g.18737090C>G	ENSP00000421191:p.Glu474Gln		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E474Q	ENST00000513874.1	37	c.1420	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349026	0.41599	.	.	ENSG00000179057	ENST00000513874	T	0.67345	-0.26	4.79	3.85	0.44370	.	0.184738	0.25954	N	0.027240	T	0.66587	0.2804	N	0.16708	0.43	0.25060	N	0.99107	D	0.69078	0.997	D	0.79108	0.992	T	0.59490	-0.7445	10	0.27785	T	0.31	.	12.5038	0.55970	0.1673:0.8327:0.0:0.0	.	474	D6RGV7	.	Q	474	ENSP00000421191:E474Q	ENSP00000322422:E474Q	E	-	1	0	IGSF22	18693666	0.999000	0.42202	0.558000	0.28319	0.454000	0.32378	3.724000	0.54962	0.963000	0.38082	0.455000	0.32223	GAG	IGSF22	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000179057		0.532	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	-	0	63	0	C	NM_173588		18737090	-1	tier1	-	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	5.61	101	6	SNP	0.998	G	G	18737090	C	G	18737090	3	3	69	1	0	0	0	0	1	0	0	0	7627	922	32	5	2612	5	IGSF22	11	18737090	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	1321167	18737090	116269426	151	18827											
PHF21A	51317	genome.wustl.edu	37	chr11	46001444	46001444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcagattgtggcaatGgctgtatttggaacttgtcc	7	17	11	6	0	1	1	1	0	0	1	2	2	2	2	1	3	1	4	1	3	3	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:46001444G>A	ENST00000418153.2	-	6	426	c.227C>T	c.(226-228)cCa>cTa	p.P76L	PHF21A_ENST00000323180.6_Missense_Mutation_p.P76L|PHF21A_ENST00000257821.4_Missense_Mutation_p.P76L			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	76	Gln-rich.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TTGTGGCAATGGCTGTATTTG	0.433																																																	0													375	307	330					11																	46001444		2202	4299	6501	SO:0001583	missense	0			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"Zinc fingers, PHD-type"	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.227C>T	11.37:g.46001444G>A	ENSP00000398824:p.Pro76Leu		D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P76L	ENST00000418153.2	37	c.227	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826539	0.90955	.	.	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000524497;ENST00000531959;ENST00000529734;ENST00000529782	D;D;D	0.94457	-3.0;-3.43;-3.0	5.88	5.88	0.94601	.	0.106561	0.64402	D	0.000004	D	0.92691	0.7677	L	0.51422	1.61	0.80722	D	1	P;P	0.39022	0.584;0.655	B;B	0.35039	0.182;0.194	D	0.92759	0.6222	10	0.72032	D	0.01	-5.5865	20.2187	0.98312	0.0:0.0:1.0:0.0	.	76;76	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	L	76;76;76;83;83;76;53	ENSP00000257821:P76L;ENSP00000323152:P76L;ENSP00000398824:P76L	ENSP00000257821:P76L	P	-	2	0	PHF21A	45958020	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.224000	0.78042	2.780000	0.95670	0.655000	0.94253	CCA	PHF21A	-	NULL	ENSG00000135365		0.433	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	-	0	260	0	G	NM_016621		46001444	-1	tier1	-	no_errors	ENST00000257821	ensembl	human	known	74_37	missense	37.34	239	143	SNP	1.000	A	A	46001444	G	A	46001444	3	1	69	1	0	0	0	0	1	0	0	0	11872	1348	47	3	1897	3	PHF21A	11	46001444	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	27264354	46001444	89005072	152	18828											
ZNF408	79797	genome.wustl.edu	37	chr11	46726758	46726758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcccgcactgtggccGggcgtttcgtcagcggggca	3	8	16	14	5	1	0	1	0	0	0	2	0	1	0	3	4	2	3	3	4	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:46726758G>A	ENST00000311764.2	+	5	1738	c.1508G>A	c.(1507-1509)cGg>cAg	p.R503Q		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTGTGGCCGGGCGTTTCGT	0.662																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													58	58	58					11																	46726758		2199	4297	6496	SO:0001583	missense	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1508G>A	11.37:g.46726758G>A	ENSP00000309606:p.Arg503Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R503Q	ENST00000311764.2	37	c.1508	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480026	0.44044	.	.	ENSG00000175213	ENST00000311764	T	0.18960	2.18	5.68	3.77	0.43336	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.175952	0.27336	N	0.019831	T	0.08313	0.0207	N	0.10707	0.03	0.22446	N	0.999099	B;B	0.33477	0.413;0.413	B;B	0.27887	0.084;0.084	T	0.14727	-1.0462	10	0.54805	T	0.06	-25.4682	3.9089	0.09194	0.2755:0.1878:0.5367:0.0	.	495;503	B4DXY4;Q9H9D4	.;ZN408_HUMAN	Q	503	ENSP00000309606:R503Q	ENSP00000309606:R503Q	R	+	2	0	ZNF408	46683334	0.004000	0.15560	0.999000	0.59377	0.632000	0.37999	0.999000	0.29757	1.509000	0.48786	0.563000	0.77884	CGG	ZNF408	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175213		0.662	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0	53	0	G	NM_024741		46726758	1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.997	A	A	46726758	G	A	46726758	3	1	69	1	0	0	0	0	1	0	0	0	17936	1116	39	1	1558	1	ZNF408	11	46726758	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	725314	46726758	88279758	153	18829											
FOLH1	2346	genome.wustl.edu	37	chr11	49208204	49208204	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaccttaccttatttcCtctgaaaactttcccatatc	9	19	1	12	0	1	1	0	1	1	0	4	1	3	1	4	0	3	0	4	0	6	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:49208204C>A	ENST00000256999.2	-	5	891	c.631G>T	c.(631-633)Gga>Tga	p.G211*	FOLH1_ENST00000356696.3_Nonsense_Mutation_p.G211*|FOLH1_ENST00000343844.4_De_novo_Start_InFrame|FOLH1_ENST00000340334.7_Nonsense_Mutation_p.G196*|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.G196*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	211					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ACCTTATTTCCTCTGAAAACT	0.318																																																	0													67	71	69					11																	49208204		2200	4298	6498	SO:0001587	stop_gained	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.631G>T	11.37:g.49208204C>A	ENSP00000256999:p.Gly211*		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.G211*	ENST00000256999.2	37	c.631	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	38	7.099013	0.98063	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	.	.	.	3.05	3.05	0.35203	.	0.000000	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.9601	0.53003	0.0:1.0:0.0:0.0	.	.	.	.	X	211;211;196;196;211	.	ENSP00000256999:G211X	G	-	1	0	FOLH1	49164780	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.933000	0.75874	1.746000	0.51805	0.430000	0.28490	GGA	FOLH1	-	pfam_Protease-assoc_domain	ENSG00000086205		0.318	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	40	0	C	NM_004476		49208204	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	nonsense	12.16	65	9	SNP	1.000	A	A	49208204	C	A	49208204	4	1	69	1	0	0	0	0	0	1	0	0	6001	690	24	3	1681	3	FOLH1	11	49208204	Nonsense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	2481446	49208204	85798312	154	18830											
OR4C15	81309	genome.wustl.edu	37	chr11	55322473	55322473	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatgtcatcaatcactttAtgtgtgacttgtacccgtta	10	15	6	10	1	3	1	3	1	0	0	3	1	3	1	2	0	1	2	2	0	5	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:55322473A>C	ENST00000314644.2	+	1	691	c.691A>C	c.(691-693)Atg>Ctg	p.M231L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CAATCACTTTATGTGTGACTT	0.463										HNSCC(20;0.049)																																							0													108	80	89					11																	55322473		2201	4296	6497	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.691A>C	11.37:g.55322473A>C	ENSP00000324958:p.Met231Leu		Q6IFE2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M231L	ENST00000314644.2	37	c.691	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	A	2.368	-0.344941	0.05208	.	.	ENSG00000181939	ENST00000314644	T	0.00042	8.84	5.02	-2.53	0.06326	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.17838	0.53	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.06807	-1.0806	9	0.37606	T	0.19	.	2.2325	0.04000	0.3096:0.1386:0.0786:0.4732	.	177	Q8NGM1	OR4CF_HUMAN	L	231	ENSP00000324958:M231L	ENSP00000324958:M231L	M	+	1	0	OR4C15	55079049	0.000000	0.05858	0.011000	0.14972	0.006000	0.05464	0.654000	0.24918	-0.215000	0.10063	-0.970000	0.02610	ATG	OR4C15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181939		0.463	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	-	0	50	0	A	NM_001001920		55322473	1	tier1	-	no_errors	ENST00000314644	ensembl	human	known	74_37	missense	16.67	49	10	SNP	0.000	C	C	55322473	A	C	55322473	3	2	69	1	0	0	0	0	1	0	0	0	11087	449	16	4	693	4	OR4C15	11	55322473	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	6114269	55322473	79684043	155	18831											
OR5D18	219438	genome.wustl.edu	37	chr11	55587684	55587684	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctttcttgctctgatacTtacatcaaccagtggctgct	7	15	6	13	0	3	1	1	1	2	0	4	1	4	1	2	1	5	3	2	1	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:55587684T>G	ENST00000333976.4	+	1	599	c.579T>G	c.(577-579)acT>acG	p.T193T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCTCTGATACTTACATCAACC	0.403																																																	0													196	173	181					11																	55587684		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"GPCR / Class A : Olfactory receptors"	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.579T>G	11.37:g.55587684T>G			Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T193	ENST00000333976.4	37	c.579	CCDS31510.1	11																																																																																			OR5D18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186119		0.403	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	-	0	60	0	T	NM_001001952		55587684	1	tier1	-	no_errors	ENST00000333976	ensembl	human	known	74_37	silent	19.10	72	17	SNP	0.002	G	G	55587684	T	G	55587684	2	3	69	1	0	0	0	0	0	0	0	1	11196	1596	56	4		4	OR5D18	11	55587684	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	265211	55587684	79418832	156	18832											
OR5L2	26338	genome.wustl.edu	37	chr11	55594761	55594761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactatcagatgtccctgagTtgagagtctgcctcttcctg	7	13	10	11	0	3	3	1	2	2	2	5	5	5	3	3	0	1	1	3	0	1	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:55594761T>G	ENST00000378397.1	+	1	67	c.67T>G	c.(67-69)Ttg>Gtg	p.L23V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTCCCTGAGTTGAGAGTCTG	0.483										HNSCC(27;0.073)																																							0													239	220	227					11																	55594761		2200	4293	6493	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.67T>G	11.37:g.55594761T>G	ENSP00000367650:p.Leu23Val		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L23V	ENST00000378397.1	37	c.67	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	14.65	2.599174	0.46318	.	.	ENSG00000205030	ENST00000378397	T	0.04970	3.52	5.31	-5.25	0.02781	.	0.000000	0.38778	N	0.001564	T	0.11537	0.0281	L	0.55834	1.745	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03000	-1.1084	10	0.46703	T	0.11	-7.4956	3.7277	0.08481	0.105:0.2994:0.1033:0.4923	.	23	Q8NGL0	OR5L2_HUMAN	V	23	ENSP00000367650:L23V	ENSP00000367650:L23V	L	+	1	2	OR5L2	55351337	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.002000	0.00652	-1.335000	0.02241	-0.305000	0.09177	TTG	OR5L2	-	NULL	ENSG00000205030		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	72	0	T	NM_001004739		55594761	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	40.22	54	37	SNP	0.003	G	G	55594761	T	G	55594761	3	3	69	1	0	0	0	0	1	0	0	0	11210	1722	60	4	69	4	OR5L2	11	55594761	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	7077	55594761	79411755	157	18833											
OR5T2	219464	genome.wustl.edu	37	chr11	55999981	55999981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtgtgagtgtcagaataAgaaatagcaaggagaggagg	15	9	15	2	0	1	4	1	1	0	3	1	6	1	5	0	3	1	1	0	3	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:55999981A>G	ENST00000313264.4	-	1	756	c.681T>C	c.(679-681)tcT>tcC	p.S227S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCAGAATAAGAAATAGCAA	0.423																																																	0													140	130	133					11																	55999981		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.681T>C	11.37:g.55999981A>G			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S227	ENST00000313264.4	37	c.681	CCDS31523.1	11																																																																																			OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181718		0.423	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0	63	0	A	NM_001004746		55999981	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	12.50	91	13	SNP	0.001	G	G	55999981	A	G	55999981	2	3	69	1	0	0	0	0	0	0	0	1	11221	59	3	4		4	OR5T2	11	55999981	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	405220	55999981	79006535	158	18834											
CCDC86	79080	genome.wustl.edu	37	chr11	60609946	60609946	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctgaatccccacgatgtCagccgaagccaagtgaggag	11	6	12	12	2	1	2	1	2	0	0	3	5	3	3	5	1	2	0	5	1	3	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:60609946C>T	ENST00000227520.5	+	1	403	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	117	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CCCACGATGTCAGCCGAAGCC	0.627																																																	0													74	70	71					11																	60609946		2203	4299	6502	SO:0001587	stop_gained	0			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.349C>T	11.37:g.60609946C>T	ENSP00000227520:p.Gln117*		B4DY99	Nonsense_Mutation	SNP	NULL	p.Q117*	ENST00000227520.5	37	c.349	CCDS7993.1	11	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564172	0.65651	.	.	ENSG00000110104	ENST00000227520	.	.	.	3.17	3.17	0.36434	.	0.657220	0.14223	N	0.333269	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-4.6305	12.1679	0.54141	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	ENSP00000227520:Q117X	Q	+	1	0	CCDC86	60366522	0.054000	0.20591	0.063000	0.19743	0.047000	0.14425	0.404000	0.20999	1.768000	0.52137	0.561000	0.74099	CAG	CCDC86	-	NULL	ENSG00000110104		0.627	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC86	HGNC	protein_coding	OTTHUMT00000395743.1	-	0	23	0	C	NM_024098		60609946	1	tier1	-	no_errors	ENST00000227520	ensembl	human	known	74_37	nonsense	42.42	19	14	SNP	0.470	T	T	60609946	C	T	60609946	4	4	69	1	0	0	0	0	0	1	0	0	2868	827	29	3	351	3	CCDC86	11	60609946	Nonsense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	4609965	60609946	74396570	159	18835											
STIP1	10963	genome.wustl.edu	37	chr11	63970376	63970376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtatccagctggagcCgaccttcagtaagtgccttt	9	11	11	10	1	1	0	1	0	0	0	2	3	2	2	4	2	3	3	4	2	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:63970376C>T	ENST00000305218.4	+	11	1421	c.1274C>T	c.(1273-1275)cCg>cTg	p.P425L	STIP1_ENST00000538945.1_Missense_Mutation_p.P401L|STIP1_ENST00000358794.5_Missense_Mutation_p.P472L	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	425					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGCTGGAGCCGACCTTCAGT	0.488																																																	0													213	195	201					11																	63970376		2201	4297	6498	SO:0001583	missense	0			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"Tetratricopeptide (TTC) repeat domain containing"	11387	protein-coding gene	gene with protein product	"Hsp70/Hsp90-organizing protein"	605063	"stress-induced-phosphoprotein 1"			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.1274C>T	11.37:g.63970376C>T	ENSP00000305958:p.Pro425Leu		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P425L	ENST00000305218.4	37	c.1274	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.128483	0.94473	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000540887	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.49	5.0	5.0	0.66597	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.054800	0.85682	D	0.000000	D	0.88683	0.6503	H	0.99090	4.425	0.80722	D	1	P;P	0.44690	0.808;0.841	B;P	0.46940	0.263;0.532	D	0.93279	0.6658	10	0.87932	D	0	-17.3734	17.4505	0.87591	0.0:1.0:0.0:0.0	.	401;425	F5H0T1;P31948	.;STIP1_HUMAN	L	472;425;401;24	ENSP00000351646:P472L;ENSP00000305958:P425L;ENSP00000445957:P401L;ENSP00000443416:P24L	ENSP00000305958:P425L	P	+	2	0	STIP1	63726952	1.000000	0.71417	0.958000	0.39756	0.978000	0.69477	7.030000	0.76484	2.506000	0.84524	0.561000	0.74099	CCG	STIP1	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168439		0.488	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	-	0	66	0	C	NM_006819		63970376	1	tier1	-	no_errors	ENST00000305218	ensembl	human	known	74_37	missense	10.71	74	9	SNP	1.000	T	T	63970376	C	T	63970376	3	4	69	1	0	0	0	0	1	0	0	0	15332	652	23	1	1316	1	STIP1	11	63970376	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3360430	63970376	71036140	160	18836											
ATG2A	23130	genome.wustl.edu	37	chr11	64677211	64677211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgggggaccaggcccactGctaagctctgaccggaactg	9	6	13	13	1	1	1	0	1	1	0	1	3	1	3	3	4	3	2	3	4	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:64677211G>T	ENST00000377264.3	-	14	2161	c.2049C>A	c.(2047-2049)agC>agA	p.S683R	ATG2A_ENST00000421419.2_Missense_Mutation_p.S683R	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	683					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGGCCCACTGCTAAGCTCTG	0.687																																																	0													40	45	43					11																	64677211		2201	4296	6497	SO:0001583	missense	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2049C>A	11.37:g.64677211G>T	ENSP00000366475:p.Ser683Arg		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S683R	ENST00000377264.3	37	c.2049	CCDS31602.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.58|10.58	1.390205|1.390205	0.25118|0.25118	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07114	.|3.22;3.22	4.28|4.28	3.36|3.36	0.38483|0.38483	.|.	.|0.253934	.|0.38326	.|N	.|0.001740	T|T	0.04815|0.04815	0.0130|0.0130	N|N	0.22421|0.22421	0.69|0.69	0.24589|0.24589	N|N	0.993836|0.993836	.|B	.|0.16802	.|0.019	.|B	.|0.19391	.|0.025	T|T	0.42430|0.42430	-0.9452|-0.9452	5|10	.|0.10377	.|T	.|0.69	.|.	7.3888|7.3888	0.26899|0.26899	0.1155:0.0:0.8845:0.0|0.1155:0.0:0.8845:0.0	.|.	.|683	.|Q2TAZ0	.|ATG2A_HUMAN	K|R	485|683	.|ENSP00000410522:S683R;ENSP00000366475:S683R	.|ENSP00000366475:S683R	Q|S	-|-	1|3	0|2	ATG2A|ATG2A	64433787|64433787	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	3.314000|3.314000	0.51943|0.51943	2.386000|2.386000	0.81285|0.81285	0.561000|0.561000	0.74099|0.74099	CAG|AGC	ATG2A	-	NULL	ENSG00000110046		0.687	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1		0	52	0	G	NM_015104		64677211	-1			no_errors	ENST00000421419	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.988	T	T	64677211	G	T	64677211	3	4	69	1	0	0	0	0	1	0	0	0	1094	1310	46	3	3879	3	ATG2A	11	64677211	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	706835	64677211	70329305	161	18837											
KAT5	10524	genome.wustl.edu	37	chr11	65486590	65486590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctcaagcggctcctgCggatcgactccaagtgtctg	7	9	11	14	3	2	0	1	0	1	0	5	2	4	1	3	2	3	2	3	2	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:65486590C>T	ENST00000377046.3	+	14	1752	c.1480C>T	c.(1480-1482)Cgg>Tgg	p.R494W	KAT5_ENST00000341318.4_Missense_Mutation_p.R527W|RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.R442W|KAT5_ENST00000534650.1_Missense_Mutation_p.R283W|KAT5_ENST00000530446.1_Missense_Mutation_p.R475W	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	494	Interaction with ATF2.|MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GCGGCTCCTGCGGATCGACTC	0.607																																																	0													71	56	61					11																	65486590		2201	4297	6498	SO:0001583	missense	0			U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing"	5275	protein-coding gene	gene with protein product	"Tat interacting protein, 60kDa", "K-acetyltransferase 5"	601409	"HIV-1 Tat interactive protein, 60kDa"	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1480C>T	11.37:g.65486590C>T	ENSP00000366245:p.Arg494Trp		B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.R527W	ENST00000377046.3	37	c.1579	CCDS31610.1	11	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120789	0.77436	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.48201	0.83;0.85;0.82;0.84	4.5	3.58	0.41010	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.996	T	0.73911	-0.3833	10	0.87932	D	0	-13.1665	9.6417	0.39844	0.3797:0.6203:0.0:0.0	.	475;527;442;494	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	W	494;442;527;475;283	ENSP00000366245:R494W;ENSP00000344955:R442W;ENSP00000340330:R527W;ENSP00000434765:R475W	ENSP00000340330:R527W	R	+	1	2	KAT5	65243166	1.000000	0.71417	0.642000	0.29436	0.965000	0.64279	4.216000	0.58540	1.095000	0.41419	0.555000	0.69702	CGG	KAT5	-	superfamily_Acyl_CoA_acyltransferase	ENSG00000172977		0.607	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT5	HGNC	protein_coding	OTTHUMT00000390866.2	-	0	33	0	C	NM_006388		65486590	1	tier1	-	no_errors	ENST00000341318	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	T	T	65486590	C	T	65486590	3	4	69	1	0	0	0	0	1	0	0	0	8010	759	27	1	1629	1	KAT5	11	65486590	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	809379	65486590	69519926	162	18838											
KDM2A	22992	genome.wustl.edu	37	chr11	67012683	67012683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattccccactcggccaaaGgtgcgggttcctaccatccc	9	8	8	16	2	0	0	0	0	0	0	4	0	3	0	6	3	2	1	6	3	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:67012683G>A	ENST00000529006.2	+	14	2033	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	KDM2A_ENST00000308783.5_De_novo_Start_InFrame|KDM2A_ENST00000530342.1_Silent_p.K90K|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.K529K	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	529					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CTCGGCCAAAGGTGCGGGTTC	0.498																																																	0													159	163	162					11																	67012683		1924	4112	6036	SO:0001819	synonymous_variant	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13606	protein-coding gene	gene with protein product	"F-box protein FBL11", "jumonji C domain-containing histone demethylase 1A"	605657	"F-box and leucine-rich repeat protein 11"	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1587G>A	11.37:g.67012683G>A			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.K529	ENST00000529006.2	37	c.1587	CCDS44657.1	11																																																																																			KDM2A	-	NULL	ENSG00000173120		0.498	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	-	0	36	0	G	NM_012308		67012683	1	tier1	-	no_errors	ENST00000529006	ensembl	human	known	74_37	silent	41.07	33	23	SNP	1.000	A	A	67012683	G	A	67012683	2	1	69	1	0	0	0	0	0	0	0	1	8151	991	35	3		3	KDM2A	11	67012683	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1526093	67012683	67993833	163	18839											
ODZ4	26011	genome.wustl.edu	37	chr11	78565358	78565358	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcagctccacaaagtcaAactgaaagacagagaaagca	19	3	8	11	0	1	3	1	1	0	2	2	4	2	3	2	0	4	3	2	0	4	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:78565358A>C	ENST00000278550.7	-	12	1934	c.1472T>G	c.(1471-1473)tTt>tGt	p.F491C		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	491					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CACAAAGTCAAACTGAAAGAC	0.607																																																	0													7	8	8					11																	78565358		690	1584	2274	SO:0001630	splice_region_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.1471-1T>G	11.37:g.78565358A>C			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F491C	ENST00000278550.7	37	c.1472	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	A	18.46	3.629048	0.67015	.	.	ENSG00000149256	ENST00000278550	T	0.35048	1.33	5.07	5.07	0.68467	.	0.062472	0.64402	D	0.000003	T	0.54287	0.1849	L	0.55990	1.75	0.54753	D	0.999987	D	0.76494	0.999	D	0.79784	0.993	T	0.52056	-0.8626	9	.	.	.	.	15.0026	0.71486	1.0:0.0:0.0:0.0	.	491	Q6N022	TEN4_HUMAN	C	491	ENSP00000278550:F491C	.	F	-	2	0	ODZ4	78243006	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.827000	0.69300	2.126000	0.65437	0.459000	0.35465	TTT	TENM4	-	NULL	ENSG00000149256		0.607	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	33	0	A		Missense_Mutation	78565358	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	C	C	78565358	A	C	78565358	5	2	69	1	0	0	0	0	0	0	1	0	10876	28	1	4	6929	4	ODZ4	11	78565358	Splice_Site	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	11552675	78565358	56441158	164	18840											
PDGFD	80310	genome.wustl.edu	37	chr11	103870968	103870968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttcggtacaagtctGtgaggtgattgctctctgtt	6	16	10	9	1	3	2	0	2	3	0	6	2	3	2	0	2	2	3	0	2	2	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:103870968G>T	ENST00000393158.2	-	2	319	c.140C>A	c.(139-141)aCa>aAa	p.T47K	PDGFD_ENST00000302251.5_Intron			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	47					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTACAAGTCTGTGAGGTGATT	0.443																																																	0													160	132	142					11																	103870968		2202	4299	6501	SO:0001583	missense	0			AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"spinal cord derived growth factor B"	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.140C>A	11.37:g.103870968G>T	ENSP00000376865:p.Thr47Lys		A8K9T6|Q9BWV5	Missense_Mutation	SNP	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.T47K	ENST00000393158.2	37	c.140	CCDS41703.1	11	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100973	0.76983	.	.	ENSG00000170962	ENST00000393158;ENST00000529268	T;T	0.26660	1.76;1.72	5.85	4.94	0.65067	.	0.000000	0.56097	U	0.000029	T	0.28962	0.0719	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.02868	-1.1100	10	0.13470	T	0.59	-9.0346	14.9183	0.70815	0.0687:0.0:0.9313:0.0	.	47	Q9GZP0	PDGFD_HUMAN	K	47;70	ENSP00000376865:T47K;ENSP00000432909:T70K	ENSP00000376865:T47K	T	-	2	0	PDGFD	103376178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.280000	0.72626	1.483000	0.48342	0.561000	0.74099	ACA	PDGFD	-	NULL	ENSG00000170962		0.443	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDGFD	HGNC	protein_coding	OTTHUMT00000387231.2	-	0	54	0	G	NM_025208		103870968	-1	tier1	-	no_errors	ENST00000393158	ensembl	human	known	74_37	missense	28.57	55	22	SNP	1.000	T	T	103870968	G	T	103870968	3	4	69	1	0	0	0	0	1	0	0	0	11699	1377	48	3	996	3	PDGFD	11	103870968	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	25305610	103870968	31135548	165	18841											
NNMT	4837	genome.wustl.edu	37	chr11	114183177	114183177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttttctccctggtggcgaGgaagctgagcagacccctgt	7	10	12	12	1	1	2	0	1	1	1	2	4	1	3	3	3	2	2	3	3	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:114183177G>C	ENST00000535401.1	+	5	1037	c.773G>C	c.(772-774)aGg>aCg	p.R258T	NNMT_ENST00000545255.1_Missense_Mutation_p.R63T|NNMT_ENST00000541754.1_Missense_Mutation_p.R63T|NNMT_ENST00000542647.1_Missense_Mutation_p.R63T|NNMT_ENST00000299964.3_Missense_Mutation_p.R258T|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	258					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CTGGTGGCGAGGAAGCTGAGC	0.478																																																	0													97	92	94					11																	114183177		2201	4296	6497	SO:0001583	missense	0			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.773G>C	11.37:g.114183177G>C	ENSP00000441434:p.Arg258Thr			Missense_Mutation	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.R258T	ENST00000535401.1	37	c.773	CCDS8368.1	11	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554029	0.45487	.	.	ENSG00000166741	ENST00000535401;ENST00000299964;ENST00000541754;ENST00000542647;ENST00000545255	T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87	4.93	-0.227	0.13102	.	0.504438	0.19070	N	0.123536	T	0.08223	0.0205	M	0.70595	2.14	0.18873	N	0.999984	D	0.56035	0.974	P	0.51615	0.675	T	0.11792	-1.0573	10	0.51188	T	0.08	-8.6972	8.0012	0.30297	0.5422:0.0:0.4578:0.0	.	258	P40261	NNMT_HUMAN	T	258;258;63;63;63	ENSP00000441434:R258T;ENSP00000299964:R258T;ENSP00000445680:R63T;ENSP00000445994:R63T;ENSP00000445248:R63T	ENSP00000299964:R258T	R	+	2	0	NNMT	113688387	0.002000	0.14202	0.224000	0.23877	0.700000	0.40528	-0.052000	0.11865	0.147000	0.19030	0.563000	0.77884	AGG	NNMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000166741		0.478	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNMT	HGNC	protein_coding	OTTHUMT00000398951.1	-	0	36	0	G	NM_006169		114183177	1	tier1	-	no_errors	ENST00000299964	ensembl	human	known	74_37	missense	42.55	27	20	SNP	0.157	C	C	114183177	G	C	114183177	3	2	69	1	0	0	0	0	1	0	0	0	10548	1000	35	5	783	5	NNMT	11	114183177	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	10312209	114183177	20823339	166	18842											
OR6M1	390261	genome.wustl.edu	37	chr11	123676607	123676607	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaacaacacagacaggaAggctcccacccagcatccca	15	3	8	15	0	0	1	0	0	0	1	2	3	2	3	3	3	3	2	3	3	3	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:123676607A>T	ENST00000309154.2	-	1	488	c.451T>A	c.(451-453)Ttc>Atc	p.F151I		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACAGACAGGAAGGCTCCCACC	0.498																																																	0													51	54	53					11																	123676607		2202	4299	6501	SO:0001583	missense	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.451T>A	11.37:g.123676607A>T	ENSP00000311038:p.Phe151Ile		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F151I	ENST00000309154.2	37	c.451	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094097	0.36952	.	.	ENSG00000196099	ENST00000309154	T	0.00169	8.63	3.58	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34828	U	0.003649	T	0.00356	0.0011	L	0.58925	1.835	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.49457	-0.8938	10	0.72032	D	0.01	.	5.2633	0.15586	0.8646:0.0:0.1354:0.0	.	151	Q8NGM8	OR6M1_HUMAN	I	151	ENSP00000311038:F151I	ENSP00000311038:F151I	F	-	1	0	OR6M1	123181817	0.035000	0.19736	0.242000	0.24170	0.591000	0.36615	0.673000	0.25203	0.456000	0.26937	0.533000	0.62120	TTC	OR6M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196099		0.498	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1		0	26	0	A	NM_001005325		123676607	-1			no_errors	ENST00000309154	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.000	T	T	123676607	A	T	123676607	3	4	69	1	0	0	0	0	1	0	0	0	11244	72	3	5	493	5	OR6M1	11	123676607	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	9493430	123676607	11329909	167	18843											
OR10G9	219870	genome.wustl.edu	37	chr11	123894160	123894160	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccctcctggccaccagcacTtggctcagtggctctctgca	5	9	10	17	0	2	0	1	0	1	0	4	0	3	0	4	3	2	4	4	3	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:123894160T>G	ENST00000375024.1	+	1	441	c.441T>G	c.(439-441)acT>acG	p.T147T		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T147T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCACCAGCACTTGGCTCAGTG	0.532																																																	1	Substitution - coding silent(1)	stomach(1)											124	105	111					11																	123894160		2201	4299	6500	SO:0001819	synonymous_variant	0			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"GPCR / Class A : Olfactory receptors"	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.441T>G	11.37:g.123894160T>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T147	ENST00000375024.1	37	c.441	CCDS31703.1	11																																																																																			OR10G9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000236981		0.532	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	-	0	91	0	T	NM_001001953		123894160	1	tier1	-	no_errors	ENST00000375024	ensembl	human	known	74_37	silent	10.87	123	15	SNP	0.000	G	G	123894160	T	G	123894160	2	3	69	1	0	0	0	0	0	0	0	1	10943	1596	56	4		4	OR10G9	11	123894160	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	217553	123894160	11112356	168	18844											
OR8G1	26494	genome.wustl.edu	37	chr11	124120732	124120732	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgactcagctctacttcTtcctcgtttttgctattgca	6	17	6	12	1	3	1	1	1	2	0	5	1	4	1	1	0	4	5	1	0	2	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr11:124120732T>C	ENST00000534473.2	+	0	310				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GCTCTACTTCTTCCTCGTTTT	0.468																																																	0													173	165	168					11																	124120732		2163	4274	6437			0			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"GPCR / Class A : Olfactory receptors"	8484	protein-coding gene	gene with protein product			"olfactory receptor, family 8, subfamily G, member 1 pseudogene"	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124120732T>C			Q8NG88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F104L	ENST00000534473.2	37	c.310		11																																																																																			OR8G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197849		0.468	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	OR8G1	HGNC	polymorphic_pseudogene	OTTHUMT00000387282.2	-	0	123	0	T	NM_001002905		124120732	1	tier1	-	no_errors	ENST00000341493	ensembl	human	known	74_37	missense	15.29	144	26	SNP	0.658	C	C	124120732	T	C	124120732	1	2	69	0	1	0	0	0	0	0	0	0	11273	1609	56	4		4	OR8G1	11	124120732	RNA	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	226572	124120732	10885784	169	18845											
KCNA5	3741	genome.wustl.edu	37	chr12	5154236	5154236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggggtcatggccccgccctCtggccctacggtggcaccgc	3	6	14	18	4	2	0	1	0	1	0	2	0	2	0	5	6	1	1	5	6	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:5154236C>T	ENST00000252321.3	+	1	1152	c.923C>T	c.(922-924)tCt>tTt	p.S308F		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	308					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GCCCCGCCCTCTGGCCCTACG	0.706																																																	0													34	37	36					12																	5154236		2202	4294	6496	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.923C>T	12.37:g.5154236C>T	ENSP00000252321:p.Ser308Phe		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S308F	ENST00000252321.3	37	c.923	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	C	6.602	0.479385	0.12581	.	.	ENSG00000130037	ENST00000252321	D	0.97688	-4.49	4.77	2.85	0.33270	.	7739.210000	0.00166	N	0.000000	D	0.94761	0.8309	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.17722	0.019	D	0.86574	0.1849	10	0.59425	D	0.04	.	11.1406	0.48400	0.3214:0.6786:0.0:0.0	.	308	P22460	KCNA5_HUMAN	F	308	ENSP00000252321:S308F	ENSP00000252321:S308F	S	+	2	0	KCNA5	5024497	0.018000	0.18449	0.018000	0.16275	0.200000	0.23975	1.180000	0.32005	0.555000	0.29079	0.561000	0.74099	TCT	KCNA5	-	NULL	ENSG00000130037		0.706	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	16	0	C	NM_002234		5154236	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.062	T	T	5154236	C	T	5154236	3	4	69	1	0	0	0	0	1	0	0	0	8033	913	32	3	925	3	KCNA5	12	5154236	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09		5154236	128697659	170	18846											
A2M	2	genome.wustl.edu	37	chr12	9265954	9265954	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtcaaacagccacactcAcagcgaaggcgacacagtgg	15	4	10	12	2	2	0	2	0	0	0	2	2	2	0	1	2	3	0	1	2	3	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:9265954A>C	ENST00000318602.7	-	2	578		c.e2+1			NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGCCACACTCACAGCGAAGGC	0.493																																																	0													94	95	95					12																	9265954		2203	4300	6503	SO:0001630	splice_region_variant	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.270+1T>G	12.37:g.9265954A>C			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Splice_Site	SNP	-	e2+2	ENST00000318602.7	37	c.270+2	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	A	11.21	1.570784	0.28003	.	.	ENSG00000175899	ENST00000318602;ENST00000540099;ENST00000404455	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4161	0.49954	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	A2M	9157221	1.000000	0.71417	0.996000	0.52242	0.171000	0.22731	5.319000	0.65835	2.028000	0.59812	0.528000	0.53228	.	A2M	-	-	ENSG00000175899		0.493	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	-	0	34	0	A	NM_000014	Intron	9265954	-1	tier1	-	no_errors	ENST00000318602	ensembl	human	known	74_37	splice_site	47.92	25	23	SNP	1.000	C	C	9265954	A	C	9265954	5	2	69	1	0	0	0	0	0	0	1	0	4	173	6	4	4292	4	A2M	12	9265954	Splice_Site	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	4111718	9265954	124585941	171	18847											
KLRF1	51348	genome.wustl.edu	37	chr12	9994450	9994450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaataccaagggaagtgttGttattggttctctaatgaga	13	13	10	5	0	1	1	0	1	1	1	2	3	1	2	1	2	1	3	1	2	6	6	rs3052097|rs111928232		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:9994450G>A	ENST00000279544.3	+	4	441	c.377G>A	c.(376-378)tGt>tAt	p.C126Y	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.C76Y	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	126	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGGAAGTGTTGTTATTGGTTC	0.323																																																	0													142	134	136					12																	9994450		1842	4083	5925	SO:0001583	missense	0			AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"Killer cell lectin-like receptors", "C-type lectin domain containing"	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.377G>A	12.37:g.9994450G>A	ENSP00000279544:p.Cys126Tyr		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.C126Y	ENST00000279544.3	37	c.377	CCDS41750.1	12	.	.	.	.	.	.	.	.	.	.	-	4.237	0.042890	0.08196	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.38401	1.14;1.14	.	.	.	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.62708	0.2450	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.87578	0.998;0.983	T	0.65162	-0.6235	6	.	.	.	.	.	.	.	.	126;76	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	Y	76;126	ENSP00000322487:C76Y;ENSP00000279544:C126Y	.	C	+	2	0	KLRF1	9885717	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	TGT	KLRF1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000150045		0.323	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRF1	HGNC	protein_coding	OTTHUMT00000399535.1		0	34	0	G	NM_016523		9994450	1			no_errors	ENST00000279544	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.999	A	A	9994450	G	A	9994450	3	1	69	1	0	0	0	0	1	0	0	0	8447	1377	48	3	391	3	KLRF1	12	9994450	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	728496	9994450	123857445	172	18848											
PRB3	5544	genome.wustl.edu	37	chr12	11420304	11420304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttgttaccttcttgtGggggtggtccttgtggcttt	2	18	15	6	0	1	0	0	0	1	0	2	1	2	0	2	5	1	3	2	5	1	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:11420304G>A	ENST00000381842.3	-	5	789	c.752C>T	c.(751-753)cCa>cTa	p.P251L	PRB3_ENST00000279573.7_Silent_p.P293P|PRB3_ENST00000538488.1_Missense_Mutation_p.P251L|PRB3_ENST00000440870.3_5'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	251	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			ACCTTCTTGTGGGGGTGGTCC	0.612																																																	0													169	194	185					12																	11420304		2189	4292	6481	SO:0001583	missense	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000381842.3:c.752C>T	12.37:g.11420304G>A	ENSP00000371264:p.Pro251Leu		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.P251L	ENST00000381842.3	37	c.752		12	.	.	.	.	.	.	.	.	.	.	.	9.245	1.039224	0.19669	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.08896	3.04;3.04	0.704	0.704	0.18121	.	.	.	.	.	T	0.06735	0.0172	.	.	.	0.09310	N	0.99999	B	0.23540	0.087	B	0.18263	0.021	T	0.33240	-0.9876	8	0.72032	D	0.01	.	7.2501	0.26144	1.0E-4:0.0:0.9999:0.0	.	251	Q04118	PRB3_HUMAN	L	251	ENSP00000371264:P251L;ENSP00000442626:P251L	ENSP00000371264:P251L	P	-	2	0	PRB3	11311571	0.002000	0.14202	0.012000	0.15200	0.285000	0.27093	0.175000	0.16762	0.653000	0.30826	0.298000	0.19748	CCA	PRB3	-	NULL	ENSG00000197870		0.612	PRB3-201	KNOWN	basic|appris_candidate_longest	protein_coding	PRB3	HGNC	protein_coding		-	0	140	0	G	NM_006249		11420304	-1	tier1	-	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	6.67	168	12	SNP	0.335	A	A	11420304	G	A	11420304	3	1	69	1	0	0	0	0	1	0	0	0	12486	1348	47	3	181	3	PRB3	12	11420304	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1425854	11420304	122431591	173	18849											
STK38L	23012	genome.wustl.edu	37	chr12	27472324	27472324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaataaaaggtcatccCttttttgaaggtgtcgactg	13	12	10	6	1	1	2	1	1	0	1	3	4	2	2	1	2	0	0	1	2	5	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:27472324C>T	ENST00000389032.3	+	12	1312	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P	STK38L_ENST00000539577.1_Silent_p.P288P	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					AAGGTCATCCCTTTTTTGAAG	0.343																																																	0													108	106	107					12																	27472324		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"nuclear Dbf2-related 2"	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.1143C>T	12.37:g.27472324C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom	p.P381	ENST00000389032.3	37	c.1143	CCDS31761.1	12																																																																																			STK38L	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000211455		0.343	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	-	0	42	0	C	NM_015000		27472324	1	tier1	-	no_errors	ENST00000389032	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.567	T	T	27472324	C	T	27472324	2	4	69	1	0	0	0	0	0	0	0	1	15351	668	24	3		3	STK38L	12	27472324	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	16052020	27472324	106379571	174	18850											
CNTN1	1272	genome.wustl.edu	37	chr12	41337803	41337803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaatatatagatcctaCgcgaattatattggccccaa	16	12	5	8	2	0	1	0	0	0	1	1	2	1	1	3	1	1	0	3	1	11	8	rs556601462		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:41337803C>T	ENST00000551295.2	+	14	1631	c.1514C>T	c.(1513-1515)aCg>aTg	p.T505M	CNTN1_ENST00000360099.3_Missense_Mutation_p.T505M|CNTN1_ENST00000547849.1_Missense_Mutation_p.T505M|CNTN1_ENST00000347616.1_Missense_Mutation_p.T505M|CNTN1_ENST00000547702.1_Missense_Mutation_p.T505M|CNTN1_ENST00000348761.2_Missense_Mutation_p.T494M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	505	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T505M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGATCCTACGCGAATTATA	0.333																																																	1	Substitution - Missense(1)	prostate(1)											84	75	78					12																	41337803		2203	4299	6502	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1514C>T	12.37:g.41337803C>T	ENSP00000447006:p.Thr505Met		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T505M	ENST00000551295.2	37	c.1514	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826087	0.50739	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	4.72	4.72	0.59763	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.89478	3.035	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.977;0.998;0.999	T	0.70741	-0.4789	10	0.62326	D	0.03	.	18.2484	0.89995	0.0:1.0:0.0:0.0	.	505;494;505	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	M	505;505;505;505;505;494	ENSP00000448004:T505M;ENSP00000447006:T505M;ENSP00000448653:T505M;ENSP00000325660:T505M;ENSP00000353213:T505M;ENSP00000261160:T494M	ENSP00000325660:T505M	T	+	2	0	CNTN1	39624070	1.000000	0.71417	0.982000	0.44146	0.049000	0.14656	7.114000	0.77103	2.625000	0.88918	0.511000	0.50034	ACG	CNTN1	-	pfscan_Ig-like_dom	ENSG00000018236		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	19	0	C	NM_001843		41337803	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	65.52	10	19	SNP	1.000	T	T	41337803	C	T	41337803	3	4	69	1	0	0	0	0	1	0	0	0	3647	536	19	1	1564	1	CNTN1	12	41337803	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	13865479	41337803	92514092	175	18851											
RAPGEF3	10411	genome.wustl.edu	37	chr12	48142277	48142277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctggtcccatggcctcCaacagaagctctaggatctt	10	10	9	12	0	3	1	0	0	3	1	5	3	5	2	3	3	2	1	3	3	4	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:48142277C>T	ENST00000449771.2	-	12	1291	c.1203G>A	c.(1201-1203)ttG>ttA	p.L401L	RAPGEF3_ENST00000549151.1_Silent_p.L359L|RAPGEF3_ENST00000171000.4_Silent_p.L359L|RAPGEF3_ENST00000395358.3_Silent_p.L401L|RAPGEF3_ENST00000548919.1_Silent_p.L359L|RAPGEF3_ENST00000389212.3_Silent_p.L401L|RAPGEF3_ENST00000405493.2_Silent_p.L359L			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	401	Interaction with PDE3B.|N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCATGGCCTCCAACAGAAGCT	0.552																																																	0													122	102	109					12																	48142277		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"exchange protein directly activated by cAMP 1"	606057	"RAP guanine-nucleotide-exchange factor (GEF) 3"			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1203G>A	12.37:g.48142277C>T			A8K2G5|E7EQC8|O95634|Q8WVN0	Silent	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.L401	ENST00000449771.2	37	c.1203	CCDS41775.1	12																																																																																			RAPGEF3	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000079337		0.552	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	-	0	20	0	C	NM_006105		48142277	-1	tier1	-	no_errors	ENST00000389212	ensembl	human	known	74_37	silent	60.00	6	9	SNP	1.000	T	T	48142277	C	T	48142277	2	4	69	1	0	0	0	0	0	0	0	1	13090	593	21	3		3	RAPGEF3	12	48142277	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	6804474	48142277	85709618	176	18852											
TUBA1B	10376	genome.wustl.edu	37	chr12	49521906	49521906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggcacgcttggcatacatCaggtcaaacttgtggtccag	11	9	11	10	1	2	0	2	0	0	0	3	0	3	0	1	4	2	3	1	4	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:49521906C>T	ENST00000336023.5	-	4	1285	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L	RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000548149.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	397					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						TGGCATACATCAGGTCAAACT	0.572																																																	0													47	48	48					12																	49521906		2202	4280	6482	SO:0001819	synonymous_variant	0			AF081484	CCDS31792.1	12q13.12	2007-02-12				ENSG00000123416		"Tubulins"	18809	protein-coding gene	gene with protein product	"tubulin, alpha, ubiquitous"	602530				12054644, 6646120	Standard	NM_006082		Approved	K-ALPHA-1	uc001rtm.3	P68363	OTTHUMG00000170410	ENST00000336023.5:c.1191G>A	12.37:g.49521906C>T			P04687|P05209|Q27I68|Q8WU19	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin	p.L397	ENST00000336023.5	37	c.1191	CCDS31792.1	12																																																																																			TUBA1B	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000123416		0.572	TUBA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA1B	HGNC	protein_coding	OTTHUMT00000409005.1	-	0	127	0	C	NM_006082		49521906	-1	tier1	-	no_errors	ENST00000336023	ensembl	human	known	74_37	silent	14.94	148	26	SNP	1.000	T	T	49521906	C	T	49521906	2	4	69	1	0	0	0	0	0	0	0	1	16793	813	29	3		3	TUBA1B	12	49521906	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	1379629	49521906	84329989	177	18853											
TRPV4	59341	genome.wustl.edu	37	chr12	110252313	110252313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgctttcttgggcccagGcaccaccgaggactcatata	8	9	12	12	1	2	0	1	0	1	0	2	2	2	1	3	4	1	2	3	4	2	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:110252313G>A	ENST00000418703.2	-	1	383	c.289C>T	c.(289-291)Cct>Tct	p.P97S	TRPV4_ENST00000537083.1_Missense_Mutation_p.P97S|TRPV4_ENST00000536838.1_Missense_Mutation_p.P63S|TRPV4_ENST00000541794.1_Missense_Mutation_p.P97S|TRPV4_ENST00000346520.2_Missense_Mutation_p.P97S|TRPV4_ENST00000544971.1_Missense_Mutation_p.P97S|TRPV4_ENST00000392719.2_Missense_Mutation_p.P97S|TRPV4_ENST00000536570.1_5'Flank|TRPV4_ENST00000261740.2_Missense_Mutation_p.P97S	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	97			P -> R (in DSMAC; loss of function mutation). {ECO:0000269|PubMed:22526352}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGGGCCCAGGCACCACCGAG	0.567																																																	0													71	68	69					12																	110252313		2203	4300	6503	SO:0001583	missense	0			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.289C>T	12.37:g.110252313G>A	ENSP00000406191:p.Pro97Ser		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.P97S	ENST00000418703.2	37	c.289	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877283	0.51801	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.91351	-2.72;-2.72;-2.68;-2.83;-2.73;-2.83;-2.68;-2.71	3.68	3.68	0.42216	.	0.415319	0.26418	N	0.024484	D	0.83603	0.5290	L	0.27053	0.805	0.25104	N	0.990767	P;B;P;B;B	0.43578	0.811;0.016;0.48;0.013;0.027	B;B;B;B;B	0.40534	0.332;0.007;0.188;0.011;0.015	T	0.75736	-0.3213	10	0.32370	T	0.25	.	12.1598	0.54098	0.0:0.0:1.0:0.0	.	97;97;97;97;63	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	S	97;97;97;97;97;97;97;63	ENSP00000406191:P97S;ENSP00000261740:P97S;ENSP00000376480:P97S;ENSP00000319003:P97S;ENSP00000443611:P97S;ENSP00000442738:P97S;ENSP00000442167:P97S;ENSP00000444336:P63S	ENSP00000261740:P97S	P	-	1	0	TRPV4	108736696	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.125000	0.89590	1.615000	0.50252	0.465000	0.42564	CCT	TRPV4	-	prints_TRPV4_channel	ENSG00000111199		0.567	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	-	0	43	0	G	NM_021625		110252313	-1	tier1	-	no_errors	ENST00000261740	ensembl	human	known	74_37	missense	58.33	25	35	SNP	1.000	A	A	110252313	G	A	110252313	3	1	69	1	0	0	0	0	1	0	0	0	16646	1203	42	3	2386	3	TRPV4	12	110252313	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	60730407	110252313	23599582	178	18854											
TMEM132D	121256	genome.wustl.edu	37	chr12	129566348	129566348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccatcaggatctgtcCgccttgcagcttggcgatcc	5	10	10	16	2	2	0	1	0	1	0	4	2	4	1	5	2	3	2	5	2	0	2	rs371664509		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:129566348C>G	ENST00000422113.2	-	7	2205	c.1879G>C	c.(1879-1881)Gga>Cga	p.G627R	TMEM132D_ENST00000389441.4_Missense_Mutation_p.G165R	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	627					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGATCTGTCCGCCTTGCAGC	0.527																																																	0													53	50	51					12																	129566348		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1879G>C	12.37:g.129566348C>G	ENSP00000408581:p.Gly627Arg		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.G627R	ENST00000422113.2	37	c.1879	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361447	0.24684	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.51817	0.69;0.69	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000002	T	0.65780	0.2724	M	0.67569	2.06	0.58432	D	0.999997	D;P	0.89917	1.0;0.527	D;P	0.87578	0.998;0.583	T	0.67241	-0.5720	9	.	.	.	-22.6183	14.9612	0.71158	0.0:1.0:0.0:0.0	.	627;165	Q14C87;Q14C87-2	T132D_HUMAN;.	R	165;627	ENSP00000374092:G165R;ENSP00000408581:G627R	.	G	-	1	0	TMEM132D	128132301	0.980000	0.34600	0.132000	0.22025	0.014000	0.08584	3.183000	0.50918	1.929000	0.55896	0.561000	0.74099	GGA	TMEM132D	-	NULL	ENSG00000151952		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0	64	0	C	NM_133448		129566348	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	44.44	25	20	SNP	0.982	G	G	129566348	C	G	129566348	3	3	69	1	0	0	0	0	1	0	0	0	16094	661	23	5	1432	5	TMEM132D	12	129566348	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	19314035	129566348	4285547	179	18855											
GALNT9	50614	genome.wustl.edu	37	chr12	132683738	132683738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaggacatcccgtggCaggggtagaggatcgcccgg	7	5	18	11	3	0	1	0	0	0	1	2	4	1	4	3	7	0	2	3	7	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:132683738C>G	ENST00000328957.8	-	9	1477	c.1478G>C	c.(1477-1479)tGc>tCc	p.C493S	GALNT9_ENST00000541995.1_Missense_Mutation_p.C127S|GALNT9_ENST00000397325.2_Missense_Mutation_p.C127S|GALNT9_ENST00000535228.1_Missense_Mutation_p.C244S	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	493	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CATCCCGTGGCAGGGGTAGAG	0.662																																					Colon(186;2147 2752 13553 41466)												0													45	53	50					12																	132683738		2027	4165	6192	SO:0001583	missense	0			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4131	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 9"	606251	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1478G>C	12.37:g.132683738C>G	ENSP00000329846:p.Cys493Ser		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.C493S	ENST00000328957.8	37	c.1478		12	.	.	.	.	.	.	.	.	.	.	c	26.3	4.722232	0.89298	.	.	ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.49	4.49	0.54785	Ricin B-related lectin (1);Ricin B lectin (3);	0.178593	0.64402	D	0.000006	T	0.75568	0.3867	M	0.93978	3.48	0.80722	D	1	P;D;D	0.57899	0.952;0.981;0.981	P;D;D	0.64877	0.886;0.93;0.91	D	0.84098	0.0394	10	0.87932	D	0	.	17.1692	0.86825	0.0:1.0:0.0:0.0	.	244;493;350	B3KNR7;Q9HCQ5;B3KP58	.;GALT9_HUMAN;.	S	127;493;244;127	ENSP00000380488:C127S;ENSP00000329846:C493S;ENSP00000439745:C244S;ENSP00000440544:C127S	ENSP00000329846:C493S	C	-	2	0	GALNT9	131249691	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.558000	0.82253	2.025000	0.59659	0.563000	0.77884	TGC	GALNT9	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000182870		0.662	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	GALNT9	HGNC	protein_coding	OTTHUMT00000402967.1	-	0	161	0	C	NM_001122636		132683738	-1	tier1	-	no_errors	ENST00000328957	ensembl	human	known	74_37	missense	10.18	150	17	SNP	1.000	G	G	132683738	C	G	132683738	3	3	69	1	0	0	0	0	1	0	0	0	6245	710	25	5	345	5	GALNT9	12	132683738	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3117390	132683738	1168157	180	18856											
POLE	5426	genome.wustl.edu	37	chr12	133219838	133219838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacaaagacggatgccctgCgctgtgaggggatgaagatc	11	6	15	9	2	0	4	0	2	0	2	1	6	0	6	1	3	2	2	1	3	2	0	rs142508245		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr12:133219838C>T	ENST00000320574.5	-	35	4566	c.4523G>A	c.(4522-4524)cGc>cAc	p.R1508H	POLE_ENST00000535270.1_Missense_Mutation_p.R1481H|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1508					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGATGCCCTGCGCTGTGAGGG	0.592								DNA polymerases (catalytic subunits)					C|||	1	0.000199681	0	0	5008	,	,		21380	0		0.001	False		,,,				2504	0																0								C	HIS/ARG	11,4395	17.9+/-39.9	0,11,2192	109	97	101		4523	5.1	1	12	dbSNP_134	101	12,8588	9.1+/-34.3	0,12,4288	yes	missense	POLE	NM_006231.2	29	0,23,6480	TT,TC,CC		0.1395,0.2497,0.1768	benign	1508/2287	133219838	23,12983	2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4523G>A	12.37:g.133219838C>T	ENSP00000322570:p.Arg1508His		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.R1508H	ENST00000320574.5	37	c.4523	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181419	0.38511	0.002497	0.001395	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.02737	4.18;4.18;4.18	5.96	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.04272	0.0118	L	0.42245	1.32	0.58432	D	0.999999	B;B	0.12013	0.005;0.002	B;B	0.08055	0.003;0.001	T	0.38067	-0.9678	10	0.49607	T	0.09	.	15.3897	0.74731	0.0:0.9333:0.0:0.0667	.	1481;1508	F5H1D6;Q07864	.;DPOE1_HUMAN	H	1508;1519;1481	ENSP00000322570:R1508H;ENSP00000406383:R1519H;ENSP00000445753:R1481H	ENSP00000322570:R1508H	R	-	2	0	POLE	131729911	1.000000	0.71417	0.999000	0.59377	0.090000	0.18270	5.993000	0.70616	1.523000	0.49018	-0.137000	0.14449	CGC	POLE	-	NULL	ENSG00000177084		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	8	0	C	NM_006231		133219838	-1	tier1	rs142508245	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	60.00	6	9	SNP	1.000	T	T	133219838	C	T	133219838	3	4	69	1	0	0	0	0	1	0	0	0	12235	768	27	1	2397	1	POLE	12	133219838	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	536100	133219838	632057	181	18857											
SLITRK1	114798	genome.wustl.edu	37	chr13	84453910	84453910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagcgtacagctgagggCagatctcgtcattggagagg	9	9	14	9	2	2	3	1	1	1	2	4	4	3	3	1	3	3	3	1	3	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr13:84453910C>A	ENST00000377084.2	-	1	2618	c.1733G>T	c.(1732-1734)tGc>tTc	p.C578F		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	578	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGCTGAGGGCAGATCTCGTC	0.537																																																	0													89	76	81					13																	84453910		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1733G>T	13.37:g.84453910C>A	ENSP00000366288:p.Cys578Phe		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.C578F	ENST00000377084.2	37	c.1733	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360520	0.61403	.	.	ENSG00000178235	ENST00000377084	T	0.68479	-0.33	5.22	5.22	0.72569	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83468	0.5261	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85873	0.1417	10	0.87932	D	0	-9.7137	17.693	0.88273	0.0:1.0:0.0:0.0	.	578	Q96PX8	SLIK1_HUMAN	F	578	ENSP00000366288:C578F	ENSP00000366288:C578F	C	-	2	0	SLITRK1	83351911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.603000	0.88011	0.655000	0.94253	TGC	SLITRK1	-	smart_Cys-rich_flank_reg_C	ENSG00000178235		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0	16	0	C	NM_052910		84453910	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	A	A	84453910	C	A	84453910	3	1	69	1	0	0	0	0	1	0	0	0	14787	710	25	3	361	3	SLITRK1	13	84453910	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09		84453910	30715968	182	18858											
FARP1	10160	genome.wustl.edu	37	chr13	99047715	99047715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagagtaaacctcagcccCcgcagccaagcacaggtcca	13	3	9	16	1	1	1	1	0	0	1	2	1	2	1	5	1	5	4	5	1	3	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr13:99047715C>G	ENST00000319562.6	+	13	1664	c.1399C>G	c.(1399-1401)Ccg>Gcg	p.P467A	FARP1_ENST00000595437.1_Missense_Mutation_p.P467A|FARP1_ENST00000376586.2_Missense_Mutation_p.P467A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	467					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACCTCAGCCCCCGCAGCCAAG	0.607																																																	0													39	46	44					13																	99047715		2053	4121	6174	SO:0001583	missense	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1399C>G	13.37:g.99047715C>G	ENSP00000322926:p.Pro467Ala		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.P467A	ENST00000319562.6	37	c.1399	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	C	3.090	-0.187162	0.06299	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.77877	-1.13;-0.96	4.8	4.8	0.61643	.	1.302880	0.04940	N	0.458473	T	0.72574	0.3477	L	0.36672	1.1	0.29235	N	0.87304	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.001	T	0.51748	-0.8666	10	0.08179	T	0.78	.	17.8675	0.88800	0.0:1.0:0.0:0.0	.	467;467	Q9Y4F1;C9JME2	FARP1_HUMAN;.	A	467;172;467	ENSP00000365771:P467A;ENSP00000322926:P467A	ENSP00000322926:P467A	P	+	1	0	FARP1	97845716	1.000000	0.71417	0.997000	0.53966	0.679000	0.39708	3.979000	0.56888	2.208000	0.71279	0.462000	0.41574	CCG	FARP1	-	NULL	ENSG00000152767		0.607	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	26	0	C	NM_005766		99047715	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	G	G	99047715	C	G	99047715	3	3	69	1	0	0	0	0	1	0	0	0	5698	623	22	5	1668	5	FARP1	13	99047715	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	14593805	99047715	16122163	183	18859											
OR4N2	390429	genome.wustl.edu	37	chr14	20295732	20295732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcatcatcctccctggaaAttttctcattattttcacca	9	17	2	13	0	4	0	4	0	1	0	7	1	6	1	3	1	0	0	3	1	2	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr14:20295732A>C	ENST00000315947.1	+	1	125	c.125A>C	c.(124-126)aAt>aCt	p.N42T	OR4N2_ENST00000568211.1_Missense_Mutation_p.N42T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCCCTGGAAATTTTCTCATT	0.443																																																	0													187	218	207					14																	20295732		2203	4300	6503	SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.125A>C	14.37:g.20295732A>C	ENSP00000319601:p.Asn42Thr		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N42T	ENST00000315947.1	37	c.125	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	15.87	2.960257	0.53400	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	D;T	0.96619	-4.07;-0.94	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000079	D	0.98676	0.9556	H	0.97587	4.035	0.36720	D	0.881104	D	0.89917	1.0	D	0.97110	1.0	D	0.99951	1.1549	10	0.87932	D	0	-11.3074	11.7038	0.51585	1.0:0.0:0.0:0.0	.	42	Q8NGD1	OR4N2_HUMAN	T	42	ENSP00000452022:N42T;ENSP00000319601:N42T	ENSP00000319601:N42T	N	+	2	0	OR4N2	19365572	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	6.305000	0.72805	1.922000	0.55676	0.482000	0.46254	AAT	OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176294		0.443	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0	88	0	A			20295732	1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	24.44	68	22	SNP	1.000	C	C	20295732	A	C	20295732	3	2	69	1	0	0	0	0	1	0	0	0	11116	101	4	4	127	4	OR4N2	14	20295732	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		20295732	87053808	184	18860											
CHD8	57680	genome.wustl.edu	37	chr14	21899011	21899011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagtgggggccctgtGgccccagggtttccagcagg	4	8	17	12	0	1	0	1	0	0	0	2	0	2	0	4	6	1	3	4	6	0	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr14:21899011G>A	ENST00000557364.1	-	2	1055	c.792C>T	c.(790-792)gcC>gcT	p.A264A	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Silent_p.A264A|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000430710.3_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	264					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGGCCCTGTGGCCCCAGGGT	0.577																																																	0													23	24	24					14																	21899011		1568	3582	5150	SO:0001819	synonymous_variant	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.792C>T	14.37:g.21899011G>A			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A264	ENST00000557364.1	37	c.792	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.577	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0	22	0	G	NM_020920		21899011	-1			no_errors	ENST00000399982	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.975	A	A	21899011	G	A	21899011	2	1	69	1	0	0	0	0	0	0	0	1	3338	1335	47	3		3	CHD8	14	21899011	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1603279	21899011	85450529	185	18861											
FLVCR2	55640	genome.wustl.edu	37	chr14	76091048	76091048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatacttaggttccatcgCccggctcttcaaaaatctca	10	12	5	14	2	4	0	3	0	2	0	7	0	5	0	2	2	1	2	2	2	4	4	rs183200579	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr14:76091048C>T	ENST00000238667.4	+	3	1261	c.905C>T	c.(904-906)gCc>gTc	p.A302V	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.A97V|FLVCR2_ENST00000556856.1_Missense_Mutation_p.A50V|FLVCR2_ENST00000553587.1_Missense_Mutation_p.A50V	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	302					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTTCCATCGCCCGGCTCTTC	0.473																																																	0													116	111	113					14																	76091048		2203	4300	6503	SO:0001583	missense	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.905C>T	14.37:g.76091048C>T	ENSP00000238667:p.Ala302Val		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.A302V	ENST00000238667.4	37	c.905	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	C	7.822	0.717901	0.15372	.	.	ENSG00000119686	ENST00000238667;ENST00000539311;ENST00000555058;ENST00000553587;ENST00000556856	T;T;T;T;T	0.58652	0.39;0.39;0.32;0.32;0.32	6.02	-1.68	0.08212	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.825819	0.11265	N	0.582155	T	0.28001	0.0690	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.20338	-1.0278	10	0.15066	T	0.55	-22.6271	4.4665	0.11691	0.1008:0.1277:0.1037:0.6678	.	97;302	B7Z485;Q9UPI3	.;FLVC2_HUMAN	V	302;97;50;50;50	ENSP00000238667:A302V;ENSP00000443439:A97V;ENSP00000451104:A50V;ENSP00000451603:A50V;ENSP00000452468:A50V	ENSP00000238667:A302V	A	+	2	0	AC007182.1	75160801	0.000000	0.05858	0.669000	0.29828	0.711000	0.40976	-0.161000	0.10026	0.161000	0.19458	-1.090000	0.02178	GCC	FLVCR2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119686		0.473	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	-	0	57	0	C	NM_017791		76091048	1	tier1	-	no_errors	ENST00000238667	ensembl	human	known	74_37	missense	29.49	55	23	SNP	0.001	T	T	76091048	C	T	76091048	3	4	69	1	0	0	0	0	1	0	0	0	5968	739	26	3	915	3	FLVCR2	14	76091048	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	54192037	76091048	31258492	186	18862											
AK7	122481	genome.wustl.edu	37	chr14	96871175	96871175	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactgagagctcacagcaaAtggaggaagccatctgggca	13	6	12	10	0	3	1	2	1	1	1	3	4	3	3	1	3	3	3	1	3	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr14:96871175A>C	ENST00000267584.4	+	3	420	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	126					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTCACAGCAAATGGAGGAAGC	0.448																																																	0													89	82	84					14																	96871175		2203	4300	6503	SO:0001583	missense	0			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"Adenylate kinases"	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.376A>C	14.37:g.96871175A>C	ENSP00000267584:p.Met126Leu		Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin,superfamily_P-loop_NTPase	p.M126L	ENST00000267584.4	37	c.376	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	A	1.671	-0.509099	0.04231	.	.	ENSG00000140057	ENST00000267584	T	0.26810	1.71	5.35	3.52	0.40303	.	0.634926	0.16363	N	0.217691	T	0.06962	0.0177	N	0.01048	-1.04	0.25883	N	0.983566	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	10	0.18710	T	0.47	-7.0093	4.2578	0.10726	0.2498:0.1755:0.5746:0.0	.	126	Q96M32	KAD7_HUMAN	L	126	ENSP00000267584:M126L	ENSP00000267584:M126L	M	+	1	0	AK7	95940928	0.868000	0.29978	0.573000	0.28510	0.011000	0.07611	2.083000	0.41615	1.272000	0.44329	-0.375000	0.07067	ATG	AK7	-	NULL	ENSG00000140057		0.448	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	-	0	57	0	A			96871175	1	tier1	-	no_errors	ENST00000267584	ensembl	human	known	74_37	missense	38.18	34	21	SNP	0.391	C	C	96871175	A	C	96871175	3	2	69	1	0	0	0	0	1	0	0	0	444	101	4	4	386	4	AK7	14	96871175	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	20780127	96871175	10478365	187	18863											
RTL1	388015	genome.wustl.edu	37	chr14	101347476	101347476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgcagctccaggtagcggTtctgacgcagggcagggagg	7	6	18	10	3	1	1	0	1	1	0	2	2	2	2	1	5	3	6	1	5	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr14:101347476T>G	ENST00000534062.1	-	1	3708	c.3650A>C	c.(3649-3651)aAc>aCc	p.N1217T	MIR433_ENST00000384837.1_RNA|MIR431_ENST00000385266.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1217					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CAGGTAGCGGTTCTGACGCAG	0.617																																																	0													16	17	17					14																	101347476		1560	3571	5131	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3650A>C	14.37:g.101347476T>G	ENSP00000435342:p.Asn1217Thr		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.N1217T	ENST00000534062.1	37	c.3650	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	T	1.904	-0.452371	0.04540	.	.	ENSG00000254656	ENST00000534062	T	0.22743	1.94	3.33	-6.66	0.01789	.	1.334020	0.05524	N	0.562587	T	0.08802	0.0218	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.27365	-1.0076	10	0.49607	T	0.09	.	1.6547	0.02779	0.1377:0.2288:0.3898:0.2438	.	1217	E9PKS8	.	T	1217	ENSP00000435342:N1217T	ENSP00000435342:N1217T	N	-	2	0	RTL1	100417229	0.000000	0.05858	0.000000	0.03702	0.148000	0.21650	-1.237000	0.02922	-1.552000	0.01704	-0.250000	0.11733	AAC	RTL1	-	NULL	ENSG00000254656		0.617	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0	56	0	T	NM_001134888		101347476	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.000	G	G	101347476	T	G	101347476	3	3	69	1	0	0	0	0	1	0	0	0	13769	1725	60	4	430	4	RTL1	14	101347476	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	4476301	101347476	6002064	188	18864											
C14orf80	283643	genome.wustl.edu	37	chr14	105959065	105959065	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcagtgcgccctcctGagcaaggtagagctggcaca	10	5	14	12	1	0	2	0	1	0	1	1	3	1	3	2	3	4	5	2	3	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr14:105959065G>T	ENST00000392523.4	+	4	700	c.579G>T	c.(577-579)ctG>ctT	p.L193L	C14orf80_ENST00000392527.1_Silent_p.L152L|C14orf80_ENST00000329886.7_Silent_p.L154L|C14orf80_ENST00000450383.1_Intron|C14orf80_ENST00000392522.3_Silent_p.L193L|C14orf80_ENST00000354560.6_Silent_p.L193L|C14orf80_ENST00000334656.7_Silent_p.L152L|C14orf80_ENST00000551054.1_3'UTR			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	193										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		GCGCCCTCCTGAGCAAGGTAG	0.672																																																	0													24	27	26					14																	105959065		692	1590	2282	SO:0001819	synonymous_variant	0				CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.579G>T	14.37:g.105959065G>T			B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Silent	SNP	NULL	p.L193	ENST00000392523.4	37	c.579		14																																																																																			C14orf80	-	NULL	ENSG00000185347		0.672	C14orf80-017	KNOWN	basic	protein_coding	C14orf80	HGNC	protein_coding	OTTHUMT00000409090.1		0	20	0	G	NM_001134875		105959065	1			no_errors	ENST00000392523	ensembl	human	known	74_37	silent	19.05	16	4	SNP	0.999	T	T	105959065	G	T	105959065	2	4	69	1	0	0	0	0	0	0	0	1	1786	1277	45	3		3	C14orf80	14	105959065	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	4611589	105959065	1390475	189	18865											
ATP10A	57194	genome.wustl.edu	37	chr15	25940173	25940173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggcagtggacgtggAgggtgggcagagagaggaga	11	3	22	5	1	0	4	0	0	0	4	0	8	0	6	1	6	0	2	1	6	0	0	rs200374453		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:25940173A>C	ENST00000356865.6	-	14	2992	c.2881T>G	c.(2881-2883)Tcc>Gcc	p.S961A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	961					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GTGGACGTGGAGGGTGGGCAG	0.587																																																	0													118	109	112					15																	25940173		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2881T>G	15.37:g.25940173A>C	ENSP00000349325:p.Ser961Ala		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S961A	ENST00000356865.6	37	c.2881	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579445	0.28180	.	.	ENSG00000206190	ENST00000356865	D	0.82526	-1.62	4.91	-3.3	0.05003	HAD-like domain (1);	1.104200	0.06869	N	0.800577	T	0.68035	0.2957	L	0.45285	1.41	0.09310	N	1	B	0.24258	0.1	B	0.22880	0.042	T	0.52793	-0.8528	10	0.07030	T	0.85	-3.7425	1.9176	0.03300	0.4743:0.1254:0.2794:0.1208	.	961	O60312	AT10A_HUMAN	A	961	ENSP00000349325:S961A	ENSP00000349325:S961A	S	-	1	0	ATP10A	23491266	1.000000	0.71417	0.000000	0.03702	0.023000	0.10783	1.971000	0.40530	-0.860000	0.04099	-0.376000	0.06991	TCC	ATP10A	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	70	0	A	NM_024490		25940173	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	36.84	47	28	SNP	0.001	C	C	25940173	A	C	25940173	3	2	69	1	0	0	0	0	1	0	0	0	1117	304	11	4	1650	4	ATP10A	15	25940173	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		25940173	76591219	190	18866											
ATP10A	57194	genome.wustl.edu	37	chr15	25959021	25959021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcgtgcagccgctccAcaagcacgcagttgtaggct	7	9	12	13	3	0	0	0	0	0	0	2	0	1	0	2	2	3	7	2	2	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:25959021A>G	ENST00000356865.6	-	10	2255	c.2144T>C	c.(2143-2145)gTg>gCg	p.V715A		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	715					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGCCGCTCCACAAGCACGCA	0.647																																																	0													63	59	60					15																	25959021		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2144T>C	15.37:g.25959021A>G	ENSP00000349325:p.Val715Ala		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V715A	ENST00000356865.6	37	c.2144	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	A	8.624	0.892202	0.17613	.	.	ENSG00000206190	ENST00000356865	T	0.65732	-0.17	4.5	0.868	0.19090	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062472	0.64402	N	0.000005	T	0.53850	0.1822	L	0.61218	1.895	0.47737	D	0.999506	B	0.18013	0.025	B	0.21151	0.033	T	0.46541	-0.9184	10	0.38643	T	0.18	-18.9937	8.2885	0.31943	0.7637:0.0:0.2363:0.0	.	715	O60312	AT10A_HUMAN	A	715	ENSP00000349325:V715A	ENSP00000349325:V715A	V	-	2	0	ATP10A	23510114	1.000000	0.71417	0.471000	0.27229	0.080000	0.17528	4.979000	0.63806	0.220000	0.20860	0.459000	0.35465	GTG	ATP10A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.647	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	70	0	A	NM_024490		25959021	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	22.09	67	19	SNP	0.995	G	G	25959021	A	G	25959021	3	3	69	1	0	0	0	0	1	0	0	0	1117	159	6	4	2403	4	ATP10A	15	25959021	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	18848	25959021	76572371	191	18867											
TGM5	9333	genome.wustl.edu	37	chr15	43545067	43545067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccgtccactccgcagggTtggcgccgtctgtgtaattc	4	11	12	14	4	1	0	0	0	1	0	4	0	3	0	4	2	1	3	4	2	1	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:43545067T>C	ENST00000220420.5	-	6	759	c.752A>G	c.(751-753)aAc>aGc	p.N251S	TGM5_ENST00000349114.4_Missense_Mutation_p.N169S	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	251					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CTCCGCAGGGTTGGCGCCGTC	0.552																																																	0													86	75	79					15																	43545067		2202	4299	6501	SO:0001583	missense	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.752A>G	15.37:g.43545067T>C	ENSP00000220420:p.Asn251Ser		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.N251S	ENST00000220420.5	37	c.752	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.329254	0.01298	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	D;D	0.88586	-2.4;-2.4	4.64	3.31	0.37934	.	0.336715	0.31963	N	0.006786	T	0.63307	0.2500	N	0.01631	-0.79	0.24293	N	0.995156	B;B	0.11235	0.004;0.003	B;B	0.17098	0.016;0.017	T	0.57642	-0.7776	10	0.05721	T	0.95	-34.1642	3.1436	0.06464	0.0:0.1586:0.2433:0.598	.	169;251	O43548-2;O43548	.;TGM5_HUMAN	S	251;169;250	ENSP00000220420:N251S;ENSP00000220419:N169S	ENSP00000220420:N251S	N	-	2	0	TGM5	41332359	0.006000	0.16342	0.995000	0.50966	0.261000	0.26267	0.052000	0.14163	1.850000	0.53721	0.459000	0.35465	AAC	TGM5	-	NULL	ENSG00000104055		0.552	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	-	0	18	0	T	NM_004245		43545067	-1	tier1	-	no_errors	ENST00000220420	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.878	C	C	43545067	T	C	43545067	3	2	69	1	0	0	0	0	1	0	0	0	15880	1725	60	4	1442	4	TGM5	15	43545067	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	17586046	43545067	58986325	192	18868											
SEMA6D	80031	genome.wustl.edu	37	chr15	48063701	48063701	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgctatgcctaaaaacTtaaactcaccaaatggtgtt	14	13	5	9	0	2	0	1	0	1	0	2	0	2	0	2	1	4	2	2	1	8	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:48063701T>C	ENST00000316364.5	+	19	3380	c.2941T>C	c.(2941-2943)Tta>Cta	p.L981L	SEMA6D_ENST00000537942.1_Silent_p.L919L|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Silent_p.L919L|SEMA6D_ENST00000558014.1_Silent_p.L919L|SEMA6D_ENST00000389432.2_Silent_p.L938L|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Silent_p.L962L|SEMA6D_ENST00000536845.2_Silent_p.L981L|SEMA6D_ENST00000389428.3_Silent_p.L906L|SEMA6D_ENST00000354744.4_Silent_p.L925L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	981					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GCCTAAAAACTTAAACTCACC	0.473																																																	0													99	103	101					15																	48063701		2198	4297	6495	SO:0001819	synonymous_variant	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2941T>C	15.37:g.48063701T>C			A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.L981	ENST00000316364.5	37	c.2941	CCDS32225.1	15																																																																																			SEMA6D	-	NULL	ENSG00000137872		0.473	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	35	0	T	NM_024966		48063701	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	silent	42.86	24	18	SNP	1.000	C	C	48063701	T	C	48063701	2	2	69	1	0	0	0	0	0	0	0	1	14087	1606	56	4		4	SEMA6D	15	48063701	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	4518634	48063701	54467691	193	18869											
TLN2	83660	genome.wustl.edu	37	chr15	63088404	63088404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccgccaccgctgtgtctGggatcattgccgacctggac	6	8	12	15	3	2	0	1	0	1	0	2	3	2	2	5	2	2	1	5	2	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:63088404G>A	ENST00000561311.1	+	46	6192	c.5962G>A	c.(5962-5964)Ggg>Agg	p.G1988R	TLN2_ENST00000306829.6_Missense_Mutation_p.G1988R			Q9Y4G6	TLN2_HUMAN	talin 2	1988					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGCTGTGTCTGGGATCATTGC	0.577																																																	0													74	70	71					15																	63088404		2203	4300	6503	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5962G>A	15.37:g.63088404G>A	ENSP00000453508:p.Gly1988Arg		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G1988R	ENST00000561311.1	37	c.5962	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038883	0.93630	.	.	ENSG00000171914	ENST00000306829	T	0.69685	-0.42	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82285	-0.0533	10	0.52906	T	0.07	-21.9952	19.1696	0.93572	0.0:0.0:1.0:0.0	.	1988	Q9Y4G6	TLN2_HUMAN	R	1988	ENSP00000303476:G1988R	ENSP00000303476:G1988R	G	+	1	0	TLN2	60875457	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.813000	0.99286	2.522000	0.85027	0.655000	0.94253	GGG	TLN2	-	NULL	ENSG00000171914		0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	42	0	G			63088404	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	8.86	72	7	SNP	1.000	A	A	63088404	G	A	63088404	3	1	69	1	0	0	0	0	1	0	0	0	15995	1348	47	3	6136	3	TLN2	15	63088404	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	15024703	63088404	39442988	194	18870											
HERC1	8925	genome.wustl.edu	37	chr15	64066901	64066901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtacgtaccaaagaacGcctcatctgcattaatatgg	14	11	7	9	2	2	1	1	0	1	1	2	1	2	1	2	1	4	3	2	1	8	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:64066901G>A	ENST00000443617.2	-	2	1009	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	308					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCAAAGAACGCCTCATCTGC	0.368																																																	0													63	58	59					15																	64066901		1900	4123	6023	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.922C>T	15.37:g.64066901G>A	ENSP00000390158:p.Arg308Cys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R308C	ENST00000443617.2	37	c.922	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771575	0.69992	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.25912	1.77	5.43	4.5	0.54988	.	0.000000	0.64402	U	0.000001	T	0.34571	0.0902	L	0.44542	1.39	0.80722	D	1	B;D;B	0.63880	0.014;0.993;0.008	B;P;B	0.58577	0.006;0.841;0.003	T	0.09509	-1.0671	10	0.72032	D	0.01	.	8.5508	0.33451	0.0794:0.0:0.7706:0.1499	.	308;308;308	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	C	308	ENSP00000390158:R308C	ENSP00000389613:R308C	R	-	1	0	HERC1	61853954	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	5.348000	0.66004	1.383000	0.46405	0.655000	0.94253	CGT	HERC1	-	NULL	ENSG00000103657		0.368	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	39	0	G	NM_003922		64066901	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	14.06	55	9	SNP	0.999	A	A	64066901	G	A	64066901	3	1	69	1	0	0	0	0	1	0	0	0	7084	1087	38	1	13971	1	HERC1	15	64066901	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	978497	64066901	38464491	195	18871											
NTRK3	4916	genome.wustl.edu	37	chr15	88799249	88799249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcccatcgtccggccgccGgcaattgatctcagtcttgc	5	11	10	15	4	2	1	1	1	2	0	6	1	4	1	4	2	1	2	4	2	1	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:88799249G>A	ENST00000360948.2	-	2	297	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	NTRK3_ENST00000557856.1_Missense_Mutation_p.R46W|NTRK3_ENST00000355254.2_Missense_Mutation_p.R46W|NTRK3_ENST00000558676.1_Missense_Mutation_p.R46W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R46W|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000394480.2_Missense_Mutation_p.R46W|NTRK3_ENST00000540489.2_Missense_Mutation_p.R46W|NTRK3_ENST00000317501.3_Missense_Mutation_p.R46W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	46					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCGGCCGCCGGCAATTGATC	0.567			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													263	218	234					15																	88799249		2201	4299	6500	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.136C>T	15.37:g.88799249G>A	ENSP00000354207:p.Arg46Trp		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R46W	ENST00000360948.2	37	c.136	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330215	0.60743	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000540489;ENST00000317501	D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	3.85	1.3	0.21679	Leucine-rich repeat-containing N-terminal (2);	0.442058	0.17498	U	0.172120	D	0.90803	0.7112	N	0.08118	0	0.37917	D	0.931565	P;P;D;P;P	0.58620	0.484;0.764;0.983;0.947;0.919	B;B;P;B;P	0.47206	0.124;0.205;0.541;0.406;0.472	D	0.89679	0.3889	10	0.66056	D	0.02	.	9.4016	0.38435	0.0:0.0:0.3578:0.6422	.	46;46;46;46;46	E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	W	46	ENSP00000377990:R46W;ENSP00000354207:R46W;ENSP00000350356:R46W;ENSP00000347397:R46W;ENSP00000444673:R46W;ENSP00000318328:R46W	ENSP00000318328:R46W	R	-	1	2	NTRK3	86600253	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.737000	0.47393	0.679000	0.31345	0.455000	0.32223	CGG	NTRK3	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000140538		0.567	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding			0	58	0	G			88799249	-1			no_errors	ENST00000360948	ensembl	human	known	74_37	missense	5.56	67	4	SNP	1.000	A	A	88799249	G	A	88799249	3	1	69	1	0	0	0	0	1	0	0	0	10747	1115	39	1	2717	1	NTRK3	15	88799249	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	24732348	88799249	13732143	196	18872											
FANCI	55215	genome.wustl.edu	37	chr15	89811630	89811630	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttctgttgaatcttttagGctattggatgttgtcactgt	6	20	9	6	0	3	1	1	1	2	0	3	2	3	2	0	2	0	3	0	2	3	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:89811630G>T	ENST00000310775.7	+	10	842	c.756G>T	c.(754-756)gaG>gaT	p.E252D	FANCI_ENST00000300027.8_Splice_Site_p.E252D	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	252					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AATCTTTTAGGCTATTGGATG	0.463								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													176	153	161					15																	89811630		2200	4299	6499	SO:0001630	splice_region_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.756-1G>T	15.37:g.89811630G>T			A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.E252D	ENST00000310775.7	37	c.756	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555286	0.27739	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.43688	0.94;0.94;0.94	4.68	0.222	0.15288	.	0.373522	0.27327	N	0.019865	T	0.27663	0.0680	L	0.50919	1.6	0.47819	D	0.999523	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.13407	0.009;0.004;0.004	T	0.08764	-1.0706	9	.	.	.	.	2.3419	0.04262	0.2846:0.1267:0.4597:0.129	.	252;252;252	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	D	252	ENSP00000300027:E252D;ENSP00000310842:E252D;ENSP00000413249:E252D	.	E	+	3	2	FANCI	87612634	0.703000	0.27826	0.180000	0.23079	0.218000	0.24690	0.841000	0.27613	0.964000	0.38108	0.561000	0.74099	GAG	FANCI	-	NULL	ENSG00000140525		0.463	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	-	0	47	0	G	NM_018193	Missense_Mutation	89811630	1	tier1	-	no_errors	ENST00000310775	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.048	T	T	89811630	G	T	89811630	5	4	69	1	0	0	0	0	0	0	1	0	5691	1217	42	3	790	3	FANCI	15	89811630	Splice_Site	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1012381	89811630	12719762	197	18873											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92663743	92663743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaaccctgtgttcacctGcatcatcctggccgcctgca	7	10	7	17	1	3	0	3	0	0	0	4	0	4	0	5	1	3	3	5	1	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:92663743G>T	ENST00000318445.6	+	5	1272	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C353F|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	353					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GTGTTCACCTGCATCATCCTG	0.567																																																	0													230	188	202					15																	92663743		2198	4298	6496	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1058G>T	15.37:g.92663743G>T	ENSP00000320634:p.Cys353Phe		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.C353F	ENST00000318445.6	37	c.1058	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756461	0.31137	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.38722	1.12;1.12	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.48484	0.1502	N	0.17838	0.53	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.952	D;D;P	0.85130	0.952;0.997;0.786	T	0.33137	-0.9880	10	0.11182	T	0.66	.	18.7361	0.91755	0.0:0.0:1.0:0.0	.	295;353;353	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	F	353;353;72	ENSP00000320634:C353F;ENSP00000387846:C353F	ENSP00000320634:C353F	C	+	2	0	SLCO3A1	90464747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.198000	0.94994	2.418000	0.82041	0.650000	0.86243	TGC	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.567	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0	47	0	G	NM_013272		92663743	1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	missense	40.00	36	24	SNP	1.000	T	T	92663743	G	T	92663743	3	4	69	1	0	0	0	0	1	0	0	0	14773	1319	46	3	1076	3	SLCO3A1	15	92663743	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2852113	92663743	9867649	198	18874											
CHD2	1106	genome.wustl.edu	37	chr15	93522467	93522467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctggtgattcagcgcatgGacaccactggccggacgatc	9	8	12	12	3	2	1	1	1	1	0	3	4	2	3	2	4	1	1	2	4	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr15:93522467G>T	ENST00000394196.4	+	22	3898	c.2830G>T	c.(2830-2832)Gac>Tac	p.D944Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D944Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	944	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCAGCGCATGGACACCACTGG	0.458																																																	0													175	166	169					15																	93522467		2197	4298	6495	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2830G>T	15.37:g.93522467G>T	ENSP00000377747:p.Asp944Tyr		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D944Y	ENST00000394196.4	37	c.2830	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	35	5.420504	0.96111	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.95342	-3.68;-3.68	5.78	5.78	0.91487	Helicase, C-terminal (1);	0.000000	0.34986	U	0.003528	D	0.97551	0.9198	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.965;1.0	D;P;D	0.91635	0.993;0.74;0.999	D	0.97665	1.0163	10	0.72032	D	0.01	-26.6266	20.0983	0.97858	0.0:0.0:1.0:0.0	.	944;944;944	A8K9Y5;O14647;O14647-2	.;CHD2_HUMAN;.	Y	944	ENSP00000377747:D944Y;ENSP00000451366:D944Y	ENSP00000377747:D944Y	D	+	1	0	CHD2	91323471	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.755000	0.98912	2.755000	0.94549	0.552000	0.68991	GAC	CHD2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000173575		0.458	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0	32	0	G	NM_001271		93522467	1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	8.16	45	4	SNP	1.000	T	T	93522467	G	T	93522467	3	4	69	1	0	0	0	0	1	0	0	0	3332	1174	41	3	2916	3	CHD2	15	93522467	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	858724	93522467	9008925	199	18875											
PIGQ	9091	genome.wustl.edu	37	chr16	626145	626145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccaggaaggccaacaCggtggcctctgtgctgctgg	6	8	13	14	1	1	0	0	0	1	0	2	1	2	1	4	5	3	2	4	5	2	1	rs370004325		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr16:626145C>T	ENST00000026218.5	+	4	921	c.833C>T	c.(832-834)aCg>aTg	p.T278M	PIGQ_ENST00000321878.5_Missense_Mutation_p.T278M|PIGQ_ENST00000470411.2_3'UTR|PIGQ_ENST00000409527.2_Missense_Mutation_p.T278M	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	278	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AAGGCCAACACGGTGGCCTCT	0.716													C|||	1	0.000199681	8e-04	0	5008	,	,		16210	0		0	False		,,,				2504	0																0								C	MET/THR,MET/THR	2,4110		0,2,2054	31	29	30		833,833	-1.3	0	16		30	0,8080		0,0,4040	no	missense,missense	PIGQ	NM_004204.3,NM_148920.1	81,81	0,2,6094	TT,TC,CC		0.0,0.0486,0.0164	benign,benign	278/582,278/761	626145	2,12190	2056	4040	6096	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.833C>T	16.37:g.626145C>T	ENSP00000026218:p.Thr278Met		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.T278M	ENST00000026218.5	37	c.833	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	C	3.509	-0.100261	0.06967	4.86E-4	0.0	ENSG00000007541	ENST00000409527;ENST00000422307;ENST00000321878;ENST00000026218	T;T;T;T	0.46819	0.86;0.99;0.86;2.16	5.16	-1.26	0.09376	.	0.647253	0.17145	N	0.185285	T	0.31358	0.0794	L	0.33339	1.005	0.36335	D	0.859125	B;B;B	0.29886	0.11;0.26;0.004	B;B;B	0.21546	0.02;0.035;0.005	T	0.09729	-1.0661	10	0.44086	T	0.13	-1.1889	10.8095	0.46538	0.0:0.523:0.0:0.477	.	292;278;278	E7ERP4;Q9BRB3;Q9BRB3-2	.;PIGQ_HUMAN;.	M	278	ENSP00000386760:T278M;ENSP00000413753:T278M;ENSP00000326674:T278M;ENSP00000026218:T278M	ENSP00000026218:T278M	T	+	2	0	PIGQ	566146	0.964000	0.33143	0.002000	0.10522	0.396000	0.30629	1.230000	0.32612	-0.566000	0.06054	0.467000	0.42956	ACG	PIGQ	-	pfam_GlcNAc_Gpi1	ENSG00000007541		0.716	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	-	0	22	0	C	NM_004204		626145	1	tier1	-	no_errors	ENST00000026218	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.408	T	T	626145	C	T	626145	3	4	69	1	0	0	0	0	1	0	0	0	11935	536	19	1	843	1	PIGQ	16	626145	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09		626145	89728608	200	18876											
WFIKKN1	117166	genome.wustl.edu	37	chr16	683884	683884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggactgggcctgcccctgcCccaacatgacggcgggcgac	6	5	14	16	3	0	1	0	1	0	0	0	3	0	2	5	4	3	0	5	4	1	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr16:683884C>T	ENST00000319070.2	+	2	1796	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	492	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				CTGCCCCTGCCCCAACATGAC	0.672																																																	0													54	30	38					16																	683884		2174	4287	6461	SO:0001583	missense	0			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30912	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20A"	608021	"chromosome 16 open reading frame 12"	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.1474C>T	16.37:g.683884C>T	ENSP00000324763:p.Pro492Ser		Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.P492S	ENST00000319070.2	37	c.1474	CCDS10414.1	16	.	.	.	.	.	.	.	.	.	.	c	15.57	2.873292	0.51695	.	.	ENSG00000127578	ENST00000319070	T	0.55930	0.49	5.31	5.31	0.75309	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.064282	0.64402	D	0.000006	T	0.67468	0.2896	M	0.67397	2.05	0.46376	D	0.999019	D	0.65815	0.995	P	0.62491	0.903	T	0.70554	-0.4840	10	0.72032	D	0.01	.	13.6672	0.62403	0.0:0.8451:0.1549:0.0	.	492	Q96NZ8	WFKN1_HUMAN	S	492	ENSP00000324763:P492S	ENSP00000324763:P492S	P	+	1	0	WFIKKN1	623885	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	5.856000	0.69518	2.480000	0.83734	0.556000	0.70494	CCC	WFIKKN1	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain	ENSG00000127578		0.672	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN1	HGNC	protein_coding	OTTHUMT00000206731.2	-	0	66	0	C	NM_053284		683884	1	tier1	-	no_errors	ENST00000319070	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	T	T	683884	C	T	683884	3	4	69	1	0	0	0	0	1	0	0	0	17407	623	22	3	1480	3	WFIKKN1	16	683884	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	57739	683884	89670869	201	18877											
ACSM2A	123876	genome.wustl.edu	37	chr16	20489909	20489909	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctccagatcatagatgaTaagggcaacgtcctgccccc	10	10	8	13	1	2	3	1	1	1	2	4	3	3	3	4	1	2	1	4	1	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr16:20489909T>A	ENST00000573854.1	+	10	1305	c.1191T>A	c.(1189-1191)gaT>gaA	p.D397E	ACSM2A_ENST00000417235.2_Missense_Mutation_p.D318E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.D397E|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.D169E|ACSM2A_ENST00000575690.1_Missense_Mutation_p.D397E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.D397E	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	397					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCATAGATGATAAGGGCAACG	0.478																																																	0													100	83	89					16																	20489909		2203	4300	6503	SO:0001583	missense	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1191T>A	16.37:g.20489909T>A	ENSP00000459451:p.Asp397Glu		B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D397E	ENST00000573854.1	37	c.1191	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.573976	0.00887	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	3.33	-2.09	0.07232	AMP-dependent synthetase/ligase (1);	0.991612	0.08187	N	0.984560	T	0.14056	0.0340	N	0.10733	0.035	0.35116	D	0.766605	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.49457	-0.8938	10	0.02654	T	1	-1.6187	0.2125	0.00158	0.2873:0.2754:0.168:0.2692	.	318;397	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	E	318;397;169;397	ENSP00000392169:D318E;ENSP00000219054:D397E;ENSP00000445082:D169E;ENSP00000379411:D397E	ENSP00000219054:D397E	D	+	3	2	ACSM2A	20397410	0.000000	0.05858	0.388000	0.26195	0.237000	0.25408	-7.001000	0.00047	-0.141000	0.11374	0.240000	0.17902	GAT	ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.478	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	-	0	45	0	T	NM_001010845		20489909	1	tier1	-	no_errors	ENST00000219054	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.037	A	A	20489909	T	A	20489909	3	1	69	1	0	0	0	0	1	0	0	0	183	1403	49	5	1225	5	ACSM2A	16	20489909	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	19806025	20489909	69864844	202	18878											
ATP6V0D1	9114	genome.wustl.edu	37	chr16	67487538	67487538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctccttgagccggtcatCgatgactgacaccgtcagag	8	10	10	13	3	3	4	2	3	1	1	5	5	3	4	3	1	1	0	3	1	0	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr16:67487538C>T	ENST00000290949.3	-	2	361	c.211G>A	c.(211-213)Gat>Aat	p.D71N	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.D71N|ATP6V0D1_ENST00000602876.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	71					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AGCCGGTCATCGATGACTGAC	0.532																																																	0													179	136	150					16																	67487538		2198	4300	6498	SO:0001583	missense	0			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"ATPases / V-type"	13724	protein-coding gene	gene with protein product		607028	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1", "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.211G>A	16.37:g.67487538C>T	ENSP00000290949:p.Asp71Asn		P12953|Q02547	Missense_Mutation	SNP	pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.D71N	ENST00000290949.3	37	c.211	CCDS10838.1	16	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358536	0.61403	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.35789	1.29;1.29	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.989	T	0.65216	-0.6222	10	0.31617	T	0.26	-20.5435	18.2282	0.89926	0.0:1.0:0.0:0.0	.	71;71	F5GYQ1;P61421	.;VA0D1_HUMAN	N	71	ENSP00000290949:D71N;ENSP00000441282:D71N	ENSP00000290949:D71N	D	-	1	0	ATP6V0D1	66045039	1.000000	0.71417	0.917000	0.36280	0.004000	0.04260	6.088000	0.71371	2.637000	0.89404	0.563000	0.77884	GAT	ATP6V0D1	-	pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	ENSG00000159720		0.532	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D1	HGNC	protein_coding	OTTHUMT00000268835.1		0	51	0	C	NM_004691		67487538	-1			no_errors	ENST00000290949	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	67487538	C	T	67487538	3	4	69	1	0	0	0	0	1	0	0	0	1174	884	31	1	872	1	ATP6V0D1	16	67487538	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	46997629	67487538	22867215	203	18879											
TMED6	146456	genome.wustl.edu	37	chr16	69385482	69385482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatccagtctggtgggcaaAttgccaaaagcattccgtgc	10	10	11	10	1	1	0	0	0	1	0	3	0	3	0	3	2	3	3	3	2	4	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr16:69385482A>T	ENST00000288025.3	-	1	230	c.175T>A	c.(175-177)Ttt>Att	p.F59I	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.I51N	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	59	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.F59I(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGGTGGGCAAATTGCCAAAAG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											90	87	88					16																	69385482		2198	4300	6498	SO:0001583	missense	0			BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.175T>A	16.37:g.69385482A>T	ENSP00000288025:p.Phe59Ile		Q6UXN5	Missense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.F59I	ENST00000288025.3	37	c.175	CCDS10878.1	16	.	.	.	.	.	.	.	.	.	.	A	33	5.227831	0.95173	.	.	ENSG00000157315	ENST00000288025	T	0.54279	0.58	5.85	5.85	0.93711	GOLD (2);	0.048871	0.85682	D	0.000000	T	0.65995	0.2745	M	0.73598	2.24	0.80722	D	1	D	0.52996	0.957	P	0.54174	0.744	T	0.65413	-0.6174	10	0.33141	T	0.24	-10.5849	16.2355	0.82371	1.0:0.0:0.0:0.0	.	59	Q8WW62	TMED6_HUMAN	I	59	ENSP00000288025:F59I	ENSP00000288025:F59I	F	-	1	0	TMED6	67942983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.283000	0.89909	2.238000	0.73509	0.533000	0.62120	TTT	TMED6	-	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	ENSG00000157315		0.488	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED6	HGNC	protein_coding	OTTHUMT00000268951.1	-	0	39	0	A	NM_144676		69385482	-1	tier1	-	no_errors	ENST00000288025	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	T	T	69385482	A	T	69385482	3	4	69	1	0	0	0	0	1	0	0	0	16055	101	4	5	563	5	TMED6	16	69385482	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	1897944	69385482	20969271	204	18880											
TRPV3	162514	genome.wustl.edu	37	chr17	3432156	3432156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccgggggcggtagtacGagacgagggtcagggtgatg	7	6	19	9	4	1	2	1	1	0	1	2	4	2	2	2	5	1	2	2	5	2	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:3432156G>A	ENST00000576742.1	-	10	1697	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	TRPV3_ENST00000301365.4_Missense_Mutation_p.S459L|TRPV3_ENST00000572519.1_Missense_Mutation_p.S459L	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	459					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCGGTAGTACGAGACGAGGGT	0.572																																																	0													108	106	107					17																	3432156		2203	4300	6503	SO:0001583	missense	0			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1376C>T	17.37:g.3432156G>A	ENSP00000461518:p.Ser459Leu		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.S459L	ENST00000576742.1	37	c.1376	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344370	0.82022	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.88975	-2.45	5.12	4.16	0.48862	.	0.000000	0.64402	D	0.000002	D	0.88629	0.6488	L	0.33485	1.01	0.41774	D	0.989785	D;B;P;D;P;P;B;D	0.67145	0.989;0.255;0.895;0.996;0.895;0.531;0.396;0.996	P;B;B;P;B;B;B;P	0.55965	0.668;0.119;0.282;0.773;0.282;0.034;0.025;0.788	D	0.89760	0.3946	10	0.87932	D	0	-8.0187	12.9749	0.58532	0.0783:0.0:0.9217:0.0	.	41;443;443;459;443;459;459;459	B4E3L1;E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;.;TRPV3_HUMAN;.	L	459;459;443	ENSP00000301365:S459L	ENSP00000301365:S459L	S	-	2	0	TRPV3	3378906	1.000000	0.71417	0.590000	0.28732	0.914000	0.54420	9.412000	0.97347	1.312000	0.45043	0.655000	0.94253	TCG	TRPV3	-	prints_TRPV1-4_channel	ENSG00000167723		0.572	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	HGNC	protein_coding	OTTHUMT00000207379.2		0	28	0	G	NM_145068		3432156	-1			no_errors	ENST00000301365	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.999	A	A	3432156	G	A	3432156	3	1	69	1	0	0	0	0	1	0	0	0	16645	1059	37	1	1032	1	TRPV3	17	3432156	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09		3432156	77763054	205	18881											
USP6	9098	genome.wustl.edu	37	chr17	5072078	5072078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagattattcaccttaagcGatttcaatttgtaaatgatc	13	15	5	8	1	2	2	2	1	0	1	3	3	2	2	2	0	1	1	2	0	5	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:5072078G>A	ENST00000574788.1	+	35	5475	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R765Q|USP6_ENST00000250066.6_Missense_Mutation_p.R1082Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1082	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CACCTTAAGCGATTTCAATTT	0.348			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													76	90	85					17																	5072078		2197	4296	6493	SO:0001583	missense	0			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3245G>A	17.37:g.5072078G>A	ENSP00000460380:p.Arg1082Gln		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.R1082Q	ENST00000574788.1	37	c.3245	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996997	0.54147	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.17054	2.3;2.3	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.90198	3.095	0.49051	D	0.999742	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.54437	-0.8294	10	0.87932	D	0	.	10.4068	0.44266	0.0:0.0:1.0:0.0	.	765;1082	P35125-2;P35125	.;UBP6_HUMAN	Q	1082;765	ENSP00000250066:R1082Q;ENSP00000305473:R765Q	ENSP00000250066:R1082Q	R	+	2	0	USP6	5012802	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	8.953000	0.93041	1.313000	0.45069	0.184000	0.17185	CGA	USP6	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000129204		0.348	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	-	0	120	0	G	NM_004505		5072078	1	tier1	-	no_errors	ENST00000250066	ensembl	human	known	74_37	missense	15.83	117	22	SNP	1.000	A	A	5072078	G	A	5072078	3	1	69	1	0	0	0	0	1	0	0	0	17135	1058	37	1	3347	1	USP6	17	5072078	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1639922	5072078	76123132	206	18882											
ZNF594	84622	genome.wustl.edu	37	chr17	5085463	5085463	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actatgaagtctccgatgttGaataaggagggaacgccgcc	12	8	12	9	3	1	2	0	2	1	0	2	5	1	4	3	2	1	1	3	2	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:5085463G>A	ENST00000399604.4	-	1	2229	c.2089C>T	c.(2089-2091)Caa>Taa	p.Q697*	ZNF594_ENST00000575779.1_Nonsense_Mutation_p.Q697*			Q96JF6	ZN594_HUMAN	zinc finger protein 594	697					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTCCGATGTTGAATAAGGAGG	0.478																																																	0													78	83	81					17																	5085463		2167	4288	6455	SO:0001587	stop_gained	0			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"Zinc fingers, C2H2-type"	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.2089C>T	17.37:g.5085463G>A	ENSP00000382513:p.Gln697*		Q6RFS0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q697*	ENST00000399604.4	37	c.2089	CCDS42241.1	17	.	.	.	.	.	.	.	.	.	.	g	23.2	4.389350	0.82902	.	.	ENSG00000180626	ENST00000399604	.	.	.	0.876	-1.53	0.08611	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	5.1106	0.14808	0.0:0.0:0.6692:0.3308	.	.	.	.	X	697	.	ENSP00000382513:Q697X	Q	-	1	0	ZNF594	5026187	0.000000	0.05858	0.016000	0.15963	0.289000	0.27227	-5.994000	0.00086	0.293000	0.22520	0.298000	0.19748	CAA	ZNF594	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180626		0.478	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	-	0	73	0	G	XM_290737		5085463	-1	tier1	-	no_errors	ENST00000399604	ensembl	human	known	74_37	nonsense	6.74	83	6	SNP	0.001	A	A	5085463	G	A	5085463	4	1	69	1	0	0	0	0	0	1	0	0	18072	1299	45	3	338	3	ZNF594	17	5085463	Nonsense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	13385	5085463	76109747	207	18883											
TP53	7157	genome.wustl.edu	37	chr17	7578431	7578431	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacctccgtcatgtgctGtgactgcttgtagatggcca	8	11	10	12	1	1	2	1	1	0	1	2	2	2	2	3	1	3	3	3	1	2	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:7578431G>A	ENST00000269305.4	-	5	688	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	TP53_ENST00000413465.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q167*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q167*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q167*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	167	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HD (in a sporadic cancer; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q167*(23)|p.0?(8)|p.Q167fs*13(3)|p.Q167fs*14(2)|p.Q167fs*3(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Q167_H168>YL(1)|p.Q167K(1)|p.Y163fs*1(1)|p.Q167fs*12(1)|p.P151_V173del23(1)|p.Q165_M169delQSQHM(1)|p.Q167del(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Q74*(1)|p.Q167E(1)|p.Q35*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATGTGCTGTGACTGCTTG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	53	Substitution - Nonsense(25)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Substitution - Missense(2)|Complex - compound substitution(1)	upper_aerodigestive_tract(9)|lung(8)|oesophagus(8)|large_intestine(7)|breast(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|soft_tissue(1)|urinary_tract(1)|ovary(1)|liver(1)	GRCh37	CM942118	TP53	M							54	54	54					17																	7578431		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.499C>T	17.37:g.7578431G>A	ENSP00000269305:p.Gln167*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q167*	ENST00000269305.4	37	c.499	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772268	0.49680	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	.	0.106561	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.276	12.4331	0.55584	0.0:0.6985:0.3015:0.0	.	.	.	.	X	167;167;167;167;167;167;156;74;35;74;35	.	ENSP00000269305:Q167X	Q	-	1	0	TP53	7519156	1.000000	0.71417	0.013000	0.15412	0.114000	0.19823	5.156000	0.64905	1.520000	0.48965	0.655000	0.94253	CAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	36	0	G	NM_000546		7578431	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	54.29	16	19	SNP	0.998	A	A	7578431	G	A	7578431	4	1	69	1	0	0	0	0	0	1	0	0	16429	1386	48	3	799	3	TP53	17	7578431	Nonsense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2492968	7578431	73616779	208	18884											
EPN2	22905	genome.wustl.edu	37	chr17	19216546	19216546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagaccaacccctggggCgggccagcggctcctgcgag	8	3	14	16	3	0	1	0	0	0	1	1	2	1	1	6	4	4	1	6	4	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:19216546C>T	ENST00000314728.5	+	7	1585	c.1101C>T	c.(1099-1101)ggC>ggT	p.G367G	EPN2_ENST00000347697.2_Silent_p.G310G|EPN2_ENST00000575595.1_Silent_p.G75G|EPN2_ENST00000571254.1_Silent_p.G303G|EPN2_ENST00000395620.2_Silent_p.G310G|EPN2_ENST00000395618.3_Silent_p.G82G|EPN2_ENST00000395626.1_Silent_p.G367G	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	367	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ACCCCTGGGGCGGGCCAGCGG	0.637																																																	0													31	39	36					17																	19216546		2201	4295	6496	SO:0001819	synonymous_variant	0			AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"Eps15 binding protein"	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1101C>T	17.37:g.19216546C>T			A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.G367	ENST00000314728.5	37	c.1101	CCDS11203.1	17																																																																																			EPN2	-	NULL	ENSG00000072134		0.637	EPN2-001	KNOWN	basic|CCDS	protein_coding	EPN2	HGNC	protein_coding	OTTHUMT00000132283.3	-	0	61	0	C	NM_014964		19216546	1	tier1	-	no_errors	ENST00000314728	ensembl	human	known	74_37	silent	53.33	34	40	SNP	0.017	T	T	19216546	C	T	19216546	2	4	69	1	0	0	0	0	0	0	0	1	5202	755	27	1		1	EPN2	17	19216546	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	11638115	19216546	61978664	209	18885											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319654	21319654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagcccgtgctcttcgagGagaagaaccagtacaagatt	12	9	11	9	2	1	4	0	1	1	3	2	6	1	4	2	1	4	2	2	1	4	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:21319654G>A	ENST00000583088.1	+	3	1895	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E334K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	334				Missing (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCTCTTCGAGGAGAAGAACCA	0.577										Prostate(3;0.18)																																							0													153	154	154					17																	21319654		2203	4300	6503	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1000G>A	17.37:g.21319654G>A	ENSP00000463778:p.Glu334Lys		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.E334K	ENST00000583088.1	37	c.1000	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866216	0.71949	.	.	ENSG00000184185	ENST00000331718	D	0.91686	-2.89	5.76	5.76	0.90799	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.89884	0.6844	L	0.41632	1.29	0.80722	D	1	B	0.16603	0.018	B	0.17098	0.017	D	0.85181	0.1004	10	0.66056	D	0.02	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	334	Q14500	IRK12_HUMAN	K	334	ENSP00000328150:E334K	ENSP00000328150:E334K	E	+	1	0	KCNJ12	21260247	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.698000	0.98700	2.732000	0.93576	0.655000	0.94253	GAG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.577	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2		0	101	0	G	NM_021012		21319654	1			no_errors	ENST00000331718	ensembl	human	known	74_37	missense	5.83	96	6	SNP	1.000	A	A	21319654	G	A	21319654	3	1	69	1	0	0	0	0	1	0	0	0	8073	1175	41	3	1002	3	KCNJ12	17	21319654	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2103108	21319654	59875556	210	18886											
PNMT	5409	genome.wustl.edu	37	chr17	37826276	37826276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccatcgacgtgcaccaGccccagcccctgggtgctgg	5	6	12	18	2	0	0	0	0	0	0	1	1	0	0	6	2	5	2	6	2	0	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:37826276G>A	ENST00000269582.2	+	3	801	c.483G>A	c.(481-483)caG>caA	p.Q161Q	PNMT_ENST00000394246.1_Silent_p.Q63Q|PNMT_ENST00000581428.1_3'UTR	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	161					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACGTGCACCAGCCCCAGCCCC	0.657																																																	0													36	39	38					17																	37826276		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.483G>A	17.37:g.37826276G>A				Silent	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.Q161	ENST00000269582.2	37	c.483	CCDS11343.1	17																																																																																			PNMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000141744		0.657	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMT	HGNC	protein_coding	OTTHUMT00000256923.2	-	0	43	0	G	NM_002686		37826276	1	tier1	-	no_errors	ENST00000269582	ensembl	human	known	74_37	silent	43.95	374	294	SNP	1.000	A	A	37826276	G	A	37826276	2	1	69	1	0	0	0	0	0	0	0	1	12198	962	34	3		3	PNMT	17	37826276	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	16506622	37826276	43368934	211	18887											
KRTAP4-9	100132386	genome.wustl.edu	37	chr17	39262065	39262065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagccccagtgctgccagtCtgtgtgctgccagcccaact	7	8	10	16	0	1	0	0	0	1	0	1	0	1	0	5	0	7	2	5	0	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:39262065C>G	ENST00000391415.1	+	1	482	c.425C>G	c.(424-426)tCt>tGt	p.S142C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	142	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgctgccagtctgtgtgctgc	0.662																																																	0													5	10	8					17																	39262065		662	1538	2200	SO:0001583	missense	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.425C>G	17.37:g.39262065C>G	ENSP00000375234:p.Ser142Cys			Missense_Mutation	SNP	pfam_Keratin-assoc	p.S142C	ENST00000391415.1	37	c.425	CCDS54124.1	17	.	.	.	.	.	.	.	.	.	.	.	10.50	1.367576	0.24771	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00619	6.18	3.13	3.13	0.36017	.	.	.	.	.	T	0.01421	0.0046	L	0.55481	1.735	0.09310	N	1	D	0.69078	0.997	P	0.49561	0.615	T	0.52548	-0.8561	9	0.87932	D	0	.	12.0926	0.53736	0.0:1.0:0.0:0.0	.	142	Q9BYQ8	KRA49_HUMAN	C	130;142;133	ENSP00000375234:S142C	ENSP00000334461:S133C	S	+	2	0	KRTAP4-9	36515591	0.014000	0.17966	0.004000	0.12327	0.091000	0.18340	3.032000	0.49736	1.452000	0.47756	0.306000	0.20318	TCT	KRTAP4-9	-	NULL	ENSG00000212722		0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	-	0	193	0	C	NM_001146041		39262065	1	tier1	-	no_errors	ENST00000391415	ensembl	human	known	74_37	missense	5.64	184	11	SNP	0.014	G	G	39262065	C	G	39262065	3	3	69	1	0	0	0	0	1	0	0	0	8585	913	32	5	427	5	KRTAP4-9	17	39262065	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	1435789	39262065	41933145	212	18888											
KRTAP4-9	100132386	genome.wustl.edu	37	chr17	39262140	39262140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcccctcttgctgtgaatCcagctgctgccgcccctgct	3	10	9	19	2	1	1	0	1	1	0	2	1	2	1	7	0	5	4	7	0	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:39262140C>T	ENST00000391415.1	+	1	557	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	167	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						tgctgtgaatccagctgctgc	0.657																																																	0													11	15	14					17																	39262140		686	1584	2270	SO:0001583	missense	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.500C>T	17.37:g.39262140C>T	ENSP00000375234:p.Ser167Phe			Missense_Mutation	SNP	pfam_Keratin-assoc	p.S167F	ENST00000391415.1	37	c.500	CCDS54124.1	17	.	.	.	.	.	.	.	.	.	.	.	9.294	1.051373	0.19827	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00601	6.29	2.68	2.68	0.31781	.	0.784192	0.10453	U	0.672864	T	0.02727	0.0082	M	0.87269	2.87	0.23464	N	0.997629	D	0.59357	0.985	P	0.60682	0.878	T	0.31888	-0.9927	10	0.72032	D	0.01	.	11.0545	0.47909	0.0:1.0:0.0:0.0	.	167	Q9BYQ8	KRA49_HUMAN	F	155;167;158	ENSP00000375234:S167F	ENSP00000334461:S158F	S	+	2	0	KRTAP4-9	36515666	.	.	0.386000	0.26170	0.350000	0.29205	.	.	1.192000	0.43071	0.313000	0.20887	TCC	KRTAP4-9	-	NULL	ENSG00000212722		0.657	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	-	0	175	0	C	NM_001146041		39262140	1	tier1	-	no_errors	ENST00000391415	ensembl	human	known	74_37	missense	5.65	167	10	SNP	0.896	T	T	39262140	C	T	39262140	3	4	69	1	0	0	0	0	1	0	0	0	8585	855	30	3	502	3	KRTAP4-9	17	39262140	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	75	39262140	41933070	213	18889											
KRT14	3861	genome.wustl.edu	37	chr17	39739836	39739836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactgcagctcaatctccagGttctgcatggtgcgccggag	7	9	13	12	2	3	0	1	0	2	0	4	2	3	1	2	3	4	4	2	3	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:39739836G>C	ENST00000167586.6	-	5	1106	c.1020C>G	c.(1018-1020)aaC>aaG	p.N340K		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	340	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CAATCTCCAGGTTCTGCATGG	0.602																																																	0													82	75	77					17																	39739836		2203	4300	6503	SO:0001583	missense	0			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1020C>G	17.37:g.39739836G>C	ENSP00000167586:p.Asn340Lys		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.N340K	ENST00000167586.6	37	c.1020	CCDS11400.1	17	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689904	0.68271	.	.	ENSG00000186847	ENST00000167586	T	0.75260	-0.92	5.22	5.22	0.72569	Prefoldin (1);Filament (1);	0.100019	0.44097	D	0.000488	T	0.69305	0.3096	L	0.41824	1.3	0.40178	D	0.977257	P	0.38110	0.618	B	0.36030	0.216	T	0.74512	-0.3641	10	0.72032	D	0.01	.	19.1487	0.93479	0.0:0.0:1.0:0.0	.	340	P02533	K1C14_HUMAN	K	340	ENSP00000167586:N340K	ENSP00000167586:N340K	N	-	3	2	KRT14	36993362	0.943000	0.32029	1.000000	0.80357	0.926000	0.56050	1.294000	0.33365	2.586000	0.87340	0.655000	0.94253	AAC	KRT14	-	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	ENSG00000186847		0.602	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	-	0	56	0	G	NM_000526		39739836	-1	tier1	-	no_errors	ENST00000167586	ensembl	human	known	74_37	missense	20.00	444	111	SNP	1.000	C	C	39739836	G	C	39739836	3	2	69	1	0	0	0	0	1	0	0	0	8478	1252	44	5	414	5	KRT14	17	39739836	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	477696	39739836	41455374	214	18890											
KRT14	3861	genome.wustl.edu	37	chr17	39742711	39742711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccaggtaggaggccaGgcggtcattgaggttctgca	7	10	15	9	1	2	1	1	1	1	0	3	2	3	2	2	6	1	3	2	6	1	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:39742711G>A	ENST00000167586.6	-	1	462	c.376C>T	c.(376-378)Ctg>Ttg	p.L126L		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	126	Coil 1A.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TAGGAGGCCAGGCGGTCATTG	0.607																																																	0													140	147	145					17																	39742711		2203	4296	6499	SO:0001819	synonymous_variant	0			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"-", "Intermediate filaments type I, keratins (acidic)"	6416	protein-coding gene	gene with protein product	"epidermolysis bullosa simplex, Dowling-Meara, Koebner"	148066	"keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.376C>T	17.37:g.39742711G>A			Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L126	ENST00000167586.6	37	c.376	CCDS11400.1	17																																																																																			KRT14	-	pfam_IF	ENSG00000186847		0.607	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT14	HGNC	protein_coding	OTTHUMT00000257289.1	-	0	167	0	G	NM_000526		39742711	-1	tier1	-	no_errors	ENST00000167586	ensembl	human	known	74_37	silent	21.27	1273	344	SNP	1.000	A	A	39742711	G	A	39742711	2	1	69	1	0	0	0	0	0	0	0	1	8478	991	35	3		3	KRT14	17	39742711	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2875	39742711	41452499	215	18891											
GHDC	84514	genome.wustl.edu	37	chr17	40343180	40343180	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggggccccagggggcagaAggtagagcccatggggctgc	8	3	20	10	0	0	2	0	0	0	2	0	2	0	2	3	7	2	3	3	7	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:40343180A>C	ENST00000301671.8	-	5	1379	c.938T>G	c.(937-939)cTt>cGt	p.L313R	GHDC_ENST00000587427.1_Missense_Mutation_p.L313R|GHDC_ENST00000414034.3_Missense_Mutation_p.L313R|GHDC_ENST00000590520.1_5'Flank|GHDC_ENST00000593209.1_Missense_Mutation_p.L313R|GHDC_ENST00000436923.2_Missense_Mutation_p.L313R|GHDC_ENST00000428494.2_Missense_Mutation_p.L274R			Q8N2G8	GHDC_HUMAN	GH3 domain containing	313						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGGGGGCAGAAGGTAGAGCCC	0.637																																																	0													41	47	45					17																	40343180		2203	4300	6503	SO:0001583	missense	0			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.938T>G	17.37:g.40343180A>C	ENSP00000301671:p.Leu313Arg		B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.L313R	ENST00000301671.8	37	c.938	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252130	0.39797	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.27	4.27	0.50696	.	0.270973	0.30565	N	0.009345	T	0.71443	0.3340	M	0.67953	2.075	0.35080	D	0.763327	D;P;D	0.89917	0.999;0.868;1.0	D;P;D	0.80764	0.987;0.729;0.994	T	0.80160	-0.1498	9	0.62326	D	0.03	-3.4226	11.294	0.49267	1.0:0.0:0.0:0.0	.	274;313;313	E9PDB5;Q8N2G8-2;Q8N2G8	.;.;GHDC_HUMAN	R	257;274;313;313;313	.	ENSP00000301671:L313R	L	-	2	0	GHDC	37596706	0.985000	0.35326	0.425000	0.26659	0.007000	0.05969	3.245000	0.51407	1.789000	0.52484	0.459000	0.35465	CTT	GHDC	-	pfam_GH3	ENSG00000167925		0.637	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	-	0	9	0	A	NM_032484		40343180	-1	tier1	-	no_errors	ENST00000301671	ensembl	human	known	74_37	missense	20.83	19	5	SNP	0.584	C	C	40343180	A	C	40343180	3	2	69	1	0	0	0	0	1	0	0	0	6395	72	3	4	763	4	GHDC	17	40343180	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	600469	40343180	40852030	216	18892											
IMP5	162540	genome.wustl.edu	37	chr17	43922683	43922683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaccctggcaccccaGgatccccgccagcccctggc	7	3	9	22	1	0	0	0	0	0	0	1	2	1	1	9	3	1	1	9	3	0	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:43922683G>A	ENST00000329196.5	+	1	428	c.411G>A	c.(409-411)caG>caA	p.Q137Q	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	137	PA.					endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										TGGCACCCCAGGATCCCCGCC	0.647																																																	0													51	48	49					17																	43922683		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"intramembrane protease 5"	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.411G>A	17.37:g.43922683G>A			Q8TC67|Q8WVZ6	Silent	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP	p.Q137	ENST00000329196.5	37	c.411	CCDS32673.1	17																																																																																			SPPL2C	-	pfam_Protease-assoc_domain	ENSG00000185294		0.647	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	-	0	49	0	G	NM_175882		43922683	1	tier1	-	no_errors	ENST00000329196	ensembl	human	known	74_37	silent	58.42	42	59	SNP	0.286	A	A	43922683	G	A	43922683	2	1	69	1	0	0	0	0	0	0	0	1	7748	991	35	3		3	IMP5	17	43922683	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3579503	43922683	37272527	217	18893											
HOXB8	3218	genome.wustl.edu	37	chr17	46690707	46690707	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttttccacttcatcctccGgttctggaaccagattttga	7	17	6	11	1	2	2	1	1	1	1	5	3	5	3	4	2	1	1	4	2	1	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:46690707G>T	ENST00000239144.4	-	2	823	c.589C>A	c.(589-591)Cgg>Agg	p.R197R	HOXB7_ENST00000567101.2_Intron|HOXB7_ENST00000239165.7_5'Flank|HOXB8_ENST00000576562.1_Silent_p.R196R	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	197					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|dorsal spinal cord development (GO:0021516)|embryonic skeletal system morphogenesis (GO:0048704)|grooming behavior (GO:0007625)|negative regulation of myeloid cell differentiation (GO:0045638)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(8)|urinary_tract(2)	11						TTCATCCTCCGGTTCTGGAAC	0.522																																																	0													123	114	117					17																	46690707		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11533.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120068	ENSG00000120068		"Homeoboxes / ANTP class : HOXL subclass"	5119	protein-coding gene	gene with protein product		142963	"homeo box B8"	HOX2, HOX2D		1973146, 1358459	Standard	XM_005257286		Approved		uc002inw.3	P17481	OTTHUMG00000159904	ENST00000239144.4:c.589C>A	17.37:g.46690707G>T			Q9H1I2	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.R197	ENST00000239144.4	37	c.589	CCDS11533.1	17																																																																																			HOXB8	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	ENSG00000120068		0.522	HOXB8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXB8	HGNC	protein_coding	OTTHUMT00000358092.3	-	0	43	0	G			46690707	-1	tier1	-	no_errors	ENST00000239144	ensembl	human	known	74_37	silent	6.58	71	5	SNP	1.000	T	T	46690707	G	T	46690707	2	4	69	1	0	0	0	0	0	0	0	1	7334	1115	39	2		2	HOXB8	17	46690707	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2768024	46690707	34504503	218	18894											
SCN4A	6329	genome.wustl.edu	37	chr17	62018150	62018150	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagacaagagactccttgAcacctgggcgcacagtctgc	10	7	11	13	1	1	3	0	1	1	2	2	4	2	3	2	1	1	2	2	1	2	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:62018150A>T	ENST00000435607.1	-	24	5568	c.5492T>A	c.(5491-5493)gTc>gAc	p.V1831D	SCN4A_ENST00000578147.1_Missense_Mutation_p.V1831D	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1831					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGACTCCTTGACACCTGGGCG	0.672																																																	0													38	48	45					17																	62018150		2052	4195	6247	SO:0001583	missense	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5492T>A	17.37:g.62018150A>T	ENSP00000396320:p.Val1831Asp		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.V1831D	ENST00000435607.1	37	c.5492	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	A	16.61	3.172336	0.57584	.	.	ENSG00000007314	ENST00000435607	D	0.96685	-4.09	4.32	4.32	0.51571	.	2.835930	0.01437	N	0.014959	D	0.94006	0.8080	N	0.08118	0	0.58432	D	0.999998	D	0.55385	0.971	P	0.50440	0.641	D	0.86008	0.1499	10	0.44086	T	0.13	.	11.6559	0.51318	1.0:0.0:0.0:0.0	.	1831	P35499	SCN4A_HUMAN	D	1831	ENSP00000396320:V1831D	ENSP00000396320:V1831D	V	-	2	0	SCN4A	59371882	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	3.042000	0.49815	1.944000	0.56390	0.459000	0.35465	GTC	SCN4A	-	NULL	ENSG00000007314		0.672	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0	47	0	A	NM_000334		62018150	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	T	T	62018150	A	T	62018150	3	4	69	1	0	0	0	0	1	0	0	0	13965	275	10	5	22	5	SCN4A	17	62018150	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	15327443	62018150	19177060	219	18895											
BPTF	2186	genome.wustl.edu	37	chr17	65941986	65941986	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttcagataccttccCaaggccagccacagtcacaa	12	8	5	16	0	3	1	2	0	1	1	5	1	4	1	4	1	2	0	4	1	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:65941986C>T	ENST00000321892.4	+	23	7601	c.7540C>T	c.(7540-7542)Caa>Taa	p.Q2514*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.Q2514*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.Q2375*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.Q2388*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2514					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATACCTTCCCAAGGCCAGCC	0.463																																																	0													143	127	133					17																	65941986		2203	4300	6503	SO:0001587	stop_gained	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.7540C>T	17.37:g.65941986C>T	ENSP00000315454:p.Gln2514*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.Q2514*	ENST00000321892.4	37	c.7540		17	.	.	.	.	.	.	.	.	.	.	C	47	13.275483	0.99731	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892;ENST00000424123	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-4.9271	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	.	.	.	X	2388;2514;2514;185	.	ENSP00000307208:Q2388X	Q	+	1	0	BPTF	63372448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.342000	0.65970	2.937000	0.99478	0.650000	0.86243	CAA	BPTF	-	NULL	ENSG00000171634		0.463	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		-	0	46	0	C	NM_182641, NM_004459		65941986	1	tier1	-	no_errors	ENST00000321892	ensembl	human	known	74_37	nonsense	38.30	58	36	SNP	1.000	T	T	65941986	C	T	65941986	4	4	69	1	0	0	0	0	0	1	0	0	1499	595	21	3	7630	3	BPTF	17	65941986	Nonsense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3923836	65941986	15253224	220	18896											
KIAA0195	9772	genome.wustl.edu	37	chr17	73494368	73494368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacagctcccgggaccGcaacctcaccaactgctcct	8	7	8	18	2	1	1	1	1	0	0	3	2	3	2	5	1	4	3	5	1	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr17:73494368G>A	ENST00000314256.7	+	28	3996	c.3602G>A	c.(3601-3603)cGc>cAc	p.R1201H	KIAA0195_ENST00000579208.1_Missense_Mutation_p.R852H|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Missense_Mutation_p.R1211H	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1201						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCGGGACCGCAACCTCACC	0.622																																																	0													92	75	81					17																	73494368		2203	4300	6503	SO:0001583	missense	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3602G>A	17.37:g.73494368G>A	ENSP00000313885:p.Arg1201His		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.R1201H	ENST00000314256.7	37	c.3602	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	5.113	0.206475	0.09704	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.95724	-3.79;-3.79	5.71	2.67	0.31697	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.435806	0.25509	N	0.030182	D	0.86944	0.6055	N	0.03608	-0.345	0.09310	N	1	B;B;D;B	0.64830	0.001;0.002;0.994;0.002	B;B;P;B	0.47470	0.001;0.001;0.548;0.001	T	0.80763	-0.1237	10	0.23891	T	0.37	-25.417	5.8167	0.18495	0.2254:0.0:0.6065:0.1681	.	1211;1211;1201;1201	B4DGC6;C9JL75;Q12767-2;Q12767	.;.;.;K0195_HUMAN	H	1201;1211	ENSP00000313885:R1201H;ENSP00000364397:R1211H	ENSP00000313885:R1201H	R	+	2	0	KIAA0195	71005963	0.262000	0.24073	0.432000	0.26747	0.055000	0.15305	1.205000	0.32308	0.772000	0.33382	-0.444000	0.05651	CGC	KIAA0195	-	pfam_ATPase_P-typ_cation-transptr_C	ENSG00000177728		0.622	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	-	0	54	0	G	NM_014738		73494368	1	tier1	-	no_errors	ENST00000314256	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.000	A	A	73494368	G	A	73494368	3	1	69	1	0	0	0	0	1	0	0	0	8187	1087	38	1	3708	1	KIAA0195	17	73494368	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	7552382	73494368	7700842	221	18897											
COLEC12	81035	genome.wustl.edu	37	chr18	347200	347200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagagcatccccgctcGcctgtaacttctccagcgta	8	8	7	18	3	1	1	0	0	1	1	4	1	2	1	6	0	3	4	6	0	2	3	rs373113347		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:347200G>A	ENST00000400256.3	-	5	629	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	141					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				ATCCCCGCTCGCCTGTAACTT	0.463													G|||	1	0.000199681	0	0	5008	,	,		20283	0.001		0	False		,,,				2504	0																0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	128	111	117		422	3.1	0.8	18		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	COLEC12	NM_130386.2	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	141/743	347200	2,13004	2203	4300	6503	SO:0001583	missense	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.422C>T	18.37:g.347200G>A	ENSP00000383115:p.Ala141Val		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.A141V	ENST00000400256.3	37	c.422	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944193	0.34283	2.27E-4	1.16E-4	ENSG00000158270	ENST00000400256	T	0.46451	0.87	6.06	3.08	0.35506	.	0.291251	0.43110	D	0.000601	T	0.19565	0.0470	N	0.08118	0	0.27093	N	0.962809	B	0.02656	0.0	B	0.01281	0.0	T	0.09574	-1.0668	10	0.38643	T	0.18	-10.9155	5.5298	0.16978	0.169:0.0:0.5123:0.3187	.	141	Q5KU26	COL12_HUMAN	V	141	ENSP00000383115:A141V	ENSP00000383115:A141V	A	-	2	0	COLEC12	337200	0.993000	0.37304	0.761000	0.31378	0.922000	0.55478	2.263000	0.43293	0.910000	0.36722	0.655000	0.94253	GCG	COLEC12	-	NULL	ENSG00000158270		0.463	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	-	0	75	0	G			347200	-1	tier1	-	no_errors	ENST00000400256	ensembl	human	known	74_37	missense	24.37	90	29	SNP	0.874	A	A	347200	G	A	347200	3	1	69	1	0	0	0	0	1	0	0	0	3719	1087	38	1	1830	1	COLEC12	18	347200	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09		347200	77730048	222	18898											
LAMA1	284217	genome.wustl.edu	37	chr18	6950865	6950865	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaacatgaagtggaggcgGcccccgtgcagctggagcac	10	5	14	12	2	1	1	1	1	0	0	1	3	1	3	2	4	4	3	2	4	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:6950865G>T	ENST00000389658.3	-	58	8406	c.8313C>A	c.(8311-8313)ggC>ggA	p.G2771G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2771	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AGTGGAGGCGGCCCCCGTGCA	0.572																																																	0													101	85	91					18																	6950865		2203	4300	6503	SO:0001819	synonymous_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8313C>A	18.37:g.6950865G>T				Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.G2771	ENST00000389658.3	37	c.8313	CCDS32787.1	18																																																																																			LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.572	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	49	0	G	NM_005559		6950865	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.793	T	T	6950865	G	T	6950865	2	4	69	1	0	0	0	0	0	0	0	1	8633	1190	42	3		3	LAMA1	18	6950865	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	6603665	6950865	71126383	223	18899											
LAMA1	284217	genome.wustl.edu	37	chr18	6961752	6961752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggaagctaacactccGgatgggctggacacagagga	12	7	13	9	1	1	1	1	0	0	1	2	5	2	5	1	5	2	2	1	5	2	2	rs372517307		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:6961752G>A	ENST00000389658.3	-	53	7552	c.7459C>T	c.(7459-7461)Cgg>Tgg	p.R2487W		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2487	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTAACACTCCGGATGGGCTGG	0.517																																																	0								G	TRP/ARG	0,4406		0,0,2203	54	49	51		7459	5.8	1	18		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2487/3076	6961752	1,13005	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7459C>T	18.37:g.6961752G>A	ENSP00000374309:p.Arg2487Trp			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2487W	ENST00000389658.3	37	c.7459	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618770	0.66787	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.22539	1.95	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.266199	0.31566	N	0.007427	T	0.40719	0.1128	M	0.74881	2.28	0.40536	D	0.980974	D	0.76494	0.999	P	0.55999	0.789	T	0.34153	-0.9840	10	0.87932	D	0	.	14.1384	0.65303	0.0711:0.0:0.9289:0.0	.	2487	P25391	LAMA1_HUMAN	W	2487	ENSP00000374309:R2487W	ENSP00000374309:R2487W	R	-	1	2	LAMA1	6951752	1.000000	0.71417	0.964000	0.40570	0.547000	0.35210	3.955000	0.56715	2.725000	0.93324	0.655000	0.94253	CGG	LAMA1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000101680		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	31	0	G	NM_005559		6961752	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.986	A	A	6961752	G	A	6961752	3	1	69	1	0	0	0	0	1	0	0	0	8633	1115	39	1	1812	1	LAMA1	18	6961752	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	10887	6961752	71115496	224	18900											
PPP4R1	9989	genome.wustl.edu	37	chr18	9595065	9595065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtccaatctccccagggGcgtcaacatttcatcttgtg	7	13	8	13	1	4	0	2	0	2	0	6	0	5	0	3	2	1	0	3	2	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:9595065G>T	ENST00000400556.3	-	3	212	c.139C>A	c.(139-141)Ccc>Acc	p.P47T	PPP4R1_ENST00000580583.1_5'Flank|PPP4R1_ENST00000400555.3_Missense_Mutation_p.P30T	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	47					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						CTCCCCAGGGGCGTCAACATT	0.413																																					Melanoma(188;1232 2082 5061 11948 35994)												0													149	136	140					18																	9595065		1883	4114	5997	SO:0001583	missense	0			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.139C>A	18.37:g.9595065G>T	ENSP00000383402:p.Pro47Thr		Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P47T	ENST00000400556.3	37	c.139	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081278	0.36758	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.31769	1.48;1.48	4.66	3.77	0.43336	Armadillo-like helical (1);Armadillo-type fold (1);	0.130879	0.51477	D	0.000085	T	0.52629	0.1746	M	0.65975	2.015	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.992;0.996	T	0.54302	-0.8314	9	.	.	.	-16.4614	15.1049	0.72312	0.0:0.1424:0.8576:0.0	.	30;47;30	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	T	47;30	ENSP00000383402:P47T;ENSP00000383401:P30T	.	P	-	1	0	PPP4R1	9585065	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.134000	0.94467	1.299000	0.44798	0.563000	0.77884	CCC	PPP4R1	-	superfamily_ARM-type_fold	ENSG00000154845		0.413	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	-	0	47	0	G	NM_005134		9595065	-1	tier1	-	no_errors	ENST00000400556	ensembl	human	known	74_37	missense	10.34	52	6	SNP	1.000	T	T	9595065	G	T	9595065	3	4	69	1	0	0	0	0	1	0	0	0	12445	1203	42	3	2785	3	PPP4R1	18	9595065	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2633313	9595065	68482183	225	18901											
FAM38B	63895	genome.wustl.edu	37	chr18	10784843	10784843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgagttcaaggaaccGgtcatggaagtagtgcaggt	10	10	15	6	1	3	1	2	1	1	0	3	3	3	3	1	4	2	3	1	4	4	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:10784843G>A	ENST00000503781.3	-	17	2430	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	PIEZO2_ENST00000383408.2_Missense_Mutation_p.R74W|PIEZO2_ENST00000302079.6_Missense_Mutation_p.R811W|PIEZO2_ENST00000580640.1_Missense_Mutation_p.R811W	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	811					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TCAAGGAACCGGTCATGGAAG	0.468																																																	0													294	241	257					18																	10784843		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2431C>T	18.37:g.10784843G>A	ENSP00000421377:p.Arg811Trp		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.R811W	ENST00000503781.3	37	c.2431		18	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405511	0.42715	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.06687	3.27;3.27	5.35	3.5	0.40072	.	0.519754	0.14283	U	0.329383	T	0.23532	0.0569	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.60886	0.88	T	0.00626	-1.1638	10	0.38643	T	0.18	.	14.5513	0.68068	0.0:0.0:0.7328:0.2672	.	811	Q9H5I5-4	.	W	811;74	ENSP00000303316:R811W;ENSP00000372900:R74W	ENSP00000303316:R811W	R	-	1	2	FAM38B	10774843	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	6.336000	0.72954	0.691000	0.31592	0.650000	0.86243	CGG	PIEZO2	-	NULL	ENSG00000154864		0.468	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	84	0	G	NM_022068		10784843	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	5.48	138	8	SNP	0.976	A	A	10784843	G	A	10784843	3	1	69	1	0	0	0	0	1	0	0	0	5577	1115	39	1	5971	1	FAM38B	18	10784843	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1189778	10784843	67292405	226	18902											
CIDEA	1149	genome.wustl.edu	37	chr18	12254815	12254815	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccgagcaaagcttccgcGatgcgaggggaccgggcttc	8	5	14	14	5	0	0	0	0	0	0	2	4	1	1	4	3	3	3	4	3	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:12254815G>A	ENST00000320477.9	+	1	103				CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a						apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AAGCTTCCGCGATGCGAGGGG	0.692																																																	0													4	6	5					18																	12254815		2072	4130	6202	SO:0001627	intron_variant	0			AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.38+395G>A	18.37:g.12254815G>A			B0YIY7|Q6UPR7	Missense_Mutation	SNP	NULL	p.D145N	ENST00000320477.9	37	c.433	CCDS11856.1	18																																																																																			CIDEA	-	NULL	ENSG00000176194		0.692	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CIDEA	HGNC	protein_coding	OTTHUMT00000254599.2	-	0	52	0	G	NM_001279		12254815	1	tier1	-	no_errors	ENST00000522713	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A	A	12254815	G	A	12254815	1	1	69	0	1	0	0	0	0	0	0	0	3432	1073	37	1		1	CIDEA	18	12254815	Intron	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	1469972	12254815	65822433	227	18903											
ZNF521	25925	genome.wustl.edu	37	chr18	22805695	22805695	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacttttgagtcaaaaacTtcctggcagagggtgcagcg	11	9	13	8	1	1	3	1	1	0	2	2	4	2	3	1	2	3	2	1	2	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:22805695T>G	ENST00000361524.3	-	4	2335	c.2187A>C	c.(2185-2187)gaA>gaC	p.E729D	ZNF521_ENST00000584787.1_Missense_Mutation_p.E509D|ZNF521_ENST00000538137.2_Missense_Mutation_p.E729D|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	729					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTCAAAAACTTCCTGGCAGA	0.473			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													71	74	73					18																	22805695		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2187A>C	18.37:g.22805695T>G	ENSP00000354794:p.Glu729Asp		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E729D	ENST00000361524.3	37	c.2187	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	9.136	1.012700	0.19277	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.28666	1.6;1.6	6.17	-3.77	0.04346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.44095	0.1277	L	0.45581	1.43	0.34944	D	0.750559	D	0.89917	1.0	D	0.76575	0.988	T	0.54563	-0.8275	10	0.87932	D	0	-25.9811	16.4839	0.84179	0.0:0.7171:0.0:0.2829	.	729	Q96K83	ZN521_HUMAN	D	729;763;729	ENSP00000354794:E729D;ENSP00000382352:E729D	ENSP00000354794:E729D	E	-	3	2	ZNF521	21059693	0.062000	0.20869	0.860000	0.33809	0.888000	0.51559	-0.712000	0.05013	-0.589000	0.05874	0.533000	0.62120	GAA	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	37	0	T	NM_015461		22805695	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	10.71	50	6	SNP	0.992	G	G	22805695	T	G	22805695	3	3	69	1	0	0	0	0	1	0	0	0	18013	1606	56	4	1768	4	ZNF521	18	22805695	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	10550880	22805695	55271553	228	18904											
DSEL	92126	genome.wustl.edu	37	chr18	65179356	65179356	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcctctgtccttgtccaTtttgcacaaatgggctgact	7	14	8	12	0	2	1	1	1	1	0	4	1	4	1	3	1	2	2	3	1	1	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr18:65179356T>G	ENST00000310045.7	-	2	3993	c.2520A>C	c.(2518-2520)aaA>aaC	p.K840N	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	830					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCCTTGTCCATTTTGCACAAA	0.428																																																	0													145	140	142					18																	65179356		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2520A>C	18.37:g.65179356T>G	ENSP00000310565:p.Lys840Asn		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.K840N	ENST00000310045.7	37	c.2520	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	T	18.58	3.653942	0.67472	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22743	1.94	4.99	-1.99	0.07457	.	0.257709	0.31747	U	0.007136	T	0.13586	0.0329	L	0.34521	1.04	0.39453	D	0.967439	B	0.20550	0.046	B	0.14578	0.011	T	0.07443	-1.0772	10	0.45353	T	0.12	.	10.8467	0.46746	0.0:0.4838:0.0:0.5162	.	830	Q8IZU8	DSEL_HUMAN	N	840;830	ENSP00000310565:K840N	ENSP00000310565:K840N	K	-	3	2	DSEL	63330336	0.160000	0.22878	0.965000	0.40720	0.895000	0.52256	-0.529000	0.06186	-0.354000	0.08212	0.379000	0.24179	AAA	DSEL	-	NULL	ENSG00000171451		0.428	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	36	0	T	NM_032160		65179356	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.963	G	G	65179356	T	G	65179356	3	3	69	1	0	0	0	0	1	0	0	0	4789	1490	52	4	1152	4	DSEL	18	65179356	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	42373661	65179356	12897892	229	18905											
LINGO3	645191	genome.wustl.edu	37	chr19	2291315	2291315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtcgcccacttccagcCggcgcaggctgtgcaggtcc	4	8	13	16	4	0	0	0	0	0	0	3	0	2	0	4	3	2	4	4	3	0	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:2291315C>T	ENST00000585527.1	-	1	708	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	LINGO3_ENST00000404279.1_Missense_Mutation_p.R154Q			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	154						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						CACTTCCAGCCGGCGCAGGCT	0.647																																																	0													31	37	35					19																	2291315		2167	4259	6426	SO:0001583	missense	0			AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.461G>A	19.37:g.2291315C>T	ENSP00000467753:p.Arg154Gln			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R154Q	ENST00000585527.1	37	c.461	CCDS45905.1	19	.	.	.	.	.	.	.	.	.	.	c	3.054	-0.194778	0.06259	.	.	ENSG00000220008	ENST00000404279	T	0.58506	0.33	4.19	1.96	0.26148	.	.	.	.	.	T	0.40448	0.1117	L	0.35593	1.075	0.09310	N	1	B	0.20164	0.042	B	0.14023	0.01	T	0.24404	-1.0161	9	0.11794	T	0.64	.	8.1492	0.31130	0.0:0.7514:0.159:0.0896	.	154	P0C6S8	LIGO3_HUMAN	Q	154	ENSP00000384979:R154Q	ENSP00000384979:R154Q	R	-	2	0	LINGO3	2242315	0.023000	0.18921	0.009000	0.14445	0.385000	0.30292	0.650000	0.24858	0.216000	0.20781	0.462000	0.41574	CGG	LINGO3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000220008		0.647	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	LINGO3	HGNC	protein_coding	OTTHUMT00000451291.2	-	0	56	0	C	NM_001101391		2291315	-1	tier1	-	no_errors	ENST00000404279	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.206	T	T	2291315	C	T	2291315	3	4	69	1	0	0	0	0	1	0	0	0	8846	652	23	1	1321	1	LINGO3	19	2291315	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09		2291315	56837668	230	18906											
SAFB	6294	genome.wustl.edu	37	chr19	5641936	5641936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaatgaaagagcttccGgagcagcttcaggaacatgc	13	6	14	8	1	1	2	1	1	0	1	2	5	2	5	1	4	5	3	1	4	3	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:5641936G>A	ENST00000292123.5	+	4	632	c.525G>A	c.(523-525)ccG>ccA	p.P175P	SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_Silent_p.P5P|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Silent_p.P175P|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000592224.1_Silent_p.P175P	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	175					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAGAGCTTCCGGAGCAGCTTC	0.463																																					Colon(88;338 1345 6184 8214 20897)												0													62	57	59					19																	5641936		2203	4300	6503	SO:0001819	synonymous_variant	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.525G>A	19.37:g.5641936G>A			A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Silent	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.P175	ENST00000292123.5	37	c.525	CCDS12142.1	19																																																																																			SAFB	-	NULL	ENSG00000160633		0.463	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0	23	0	G			5641936	1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.364	A	A	5641936	G	A	5641936	2	1	69	1	0	0	0	0	0	0	0	1	13851	1103	39	1		1	SAFB	19	5641936	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3350621	5641936	53487047	231	18907											
FBN3	84467	genome.wustl.edu	37	chr19	8161451	8161451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcccgacactcattccGtcctgggggtgcagagagca	8	8	12	13	2	2	1	1	0	1	1	5	4	4	1	3	2	2	2	3	2	0	1	rs370586224		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:8161451G>A	ENST00000600128.1	-	44	5830	c.5416C>T	c.(5416-5418)Cgg>Tgg	p.R1806W	FBN3_ENST00000270509.2_Missense_Mutation_p.R1806W|FBN3_ENST00000601739.1_Missense_Mutation_p.R1806W			Q75N90	FBN3_HUMAN	fibrillin 3	1806	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.		R -> Q (in dbSNP:rs3829817). {ECO:0000269|PubMed:11347906}.			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTCATTCCGTCCTGGGGGT	0.562													G|||	1	0.000199681	0	0	5008	,	,		19440	0.001		0	False		,,,				2504	0																0								G	TRP/ARG	0,4406		0,0,2203	98	75	83		5416	3.4	0.3	19		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN3	NM_032447.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1806/2810	8161451	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5416C>T	19.37:g.8161451G>A	ENSP00000470498:p.Arg1806Trp		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.R1806W	ENST00000600128.1	37	c.5416	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096339	0.56075	0.0	1.16E-4	ENSG00000142449	ENST00000270509	D	0.87491	-2.26	3.4	3.4	0.38934	Epidermal growth factor-like, type 3 (1);	0.135938	0.50627	U	0.000110	D	0.89684	0.6786	M	0.64170	1.965	0.58432	D	0.999997	D	0.67145	0.996	P	0.54815	0.761	D	0.91085	0.4902	10	0.66056	D	0.02	.	15.1341	0.72549	0.0:0.0:1.0:0.0	.	1806	Q75N90	FBN3_HUMAN	W	1806	ENSP00000270509:R1806W	ENSP00000270509:R1806W	R	-	1	2	FBN3	8067451	1.000000	0.71417	0.258000	0.24420	0.164000	0.22412	5.841000	0.69409	1.566000	0.49654	0.655000	0.94253	CGG	FBN3	-	smart_EGF-like_Ca-bd_dom,pirsf_FBN	ENSG00000142449		0.562	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	31	0	G	NM_032447		8161451	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	A	A	8161451	G	A	8161451	3	1	69	1	0	0	0	0	1	0	0	0	5726	1144	40	1	3097	1	FBN3	19	8161451	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2519515	8161451	50967532	232	18908											
ZNF564	163050	genome.wustl.edu	37	chr19	12637330	12637330	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacattctttacgtaaggtTtatctccattatgagctctt	9	17	5	10	1	3	1	0	1	3	0	4	1	3	1	2	1	2	3	2	1	4	8			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:12637330T>A	ENST00000339282.7	-	4	1788	c.1592A>T	c.(1591-1593)aAa>aTa	p.K531I	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TACGTAAGGTTTATCTCCATT	0.368																																																	0													94	98	97					19																	12637330		2112	4260	6372	SO:0001583	missense	0			BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"Zinc fingers, C2H2-type", "-"	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.1592A>T	19.37:g.12637330T>A	ENSP00000340004:p.Lys531Ile		B9EGT4|Q6P1K6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K531I	ENST00000339282.7	37	c.1592	CCDS42505.1	19	.	.	.	.	.	.	.	.	.	.	T	14.01	2.408948	0.42715	.	.	ENSG00000249709	ENST00000339282	T	0.02345	4.33	1.6	1.6	0.23607	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	M	0.82630	2.6	0.80722	D	1	P	0.49696	0.927	D	0.69307	0.963	T	0.00834	-1.1547	9	0.87932	D	0	.	8.5942	0.33705	0.0:0.0:0.0:1.0	.	531	Q8TBZ8	ZN564_HUMAN	I	531	ENSP00000340004:K531I	ENSP00000340004:K531I	K	-	2	0	ZNF564	12498330	0.032000	0.19561	0.008000	0.14137	0.039000	0.13416	0.248000	0.18198	1.010000	0.39314	0.523000	0.50628	AAA	ZNF564	-	pfscan_Znf_C2H2	ENSG00000249709		0.368	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF564	HGNC	protein_coding	OTTHUMT00000344120.2	-	0	21	0	T	NM_144976		12637330	-1	tier1	-	no_errors	ENST00000339282	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.982	A	A	12637330	T	A	12637330	3	1	69	1	0	0	0	0	1	0	0	0	18043	1841	64	5	73	5	ZNF564	19	12637330	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	4475879	12637330	46491653	233	18909											
CACNA1A	773	genome.wustl.edu	37	chr19	13319692	13319694	+	In_Frame_Del	DEL	GAT	GAT	-																															gtccttgtcggggggcggggGatggtggtggtggtggtggt																								rs16051	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	GAT	GAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:13319692_13319694delGAT	ENST00000360228.5	-	46	6655_6657	c.6656_6658delATC	c.(6655-6660)catccc>ccc	p.H2219del	CACNA1A_ENST00000573710.2_In_Frame_Del_p.H2220del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGGGCGGGGGAtggtggtggtg	0.734																																																	0																																										SO:0001651	inframe_deletion	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6656_6658delATC	19.37:g.13319692_13319694delGAT	ENSP00000353362:p.His2219del		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.H2219in_frame_del	ENST00000360228.5	37	c.6658_6656	CCDS45998.1	19																																																																																			CACNA1A	-	NULL	ENSG00000141837		0.734	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2		0	15	0	GAT	NM_000068		13319694	-1	tier1		no_errors	ENST00000360228	ensembl	human	known	74_37	in_frame_del	16.67	20	4	DEL	1.000:1.000:1.000	-	-	13319694	GAT	-	13319692	7	5	69	1	0	1	0	1	0	0	0	0	2545	1174	41	0	870	0	CACNA1A	19	13319692	In_Frame_Del	DEL	GAT	TCGA-L5-A4OW-01A-11D-A28B-09	682362	13319692	45809291	234	18910											
EPHX3	79852	genome.wustl.edu	37	chr19	15342188	15342188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggctctggaactcccggaGctggtaacgccaggagaacc	9	5	14	13	3	1	1	0	0	1	1	2	4	2	3	3	5	4	3	3	5	3	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:15342188G>T	ENST00000221730.3	-	3	569	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	EPHX3_ENST00000435261.1_Missense_Mutation_p.L117I|EPHX3_ENST00000602233.1_Missense_Mutation_p.L117I	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	117						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AACTCCCGGAGCTGGTAACGC	0.627																																																	0													45	41	42					19																	15342188		2203	4300	6503	SO:0001583	missense	0			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"Abhydrolase domain containing"	23760	protein-coding gene	gene with protein product			"abhydrolase domain containing 9"	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.349C>A	19.37:g.15342188G>T	ENSP00000221730:p.Leu117Ile		A3KMR3	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.L117I	ENST00000221730.3	37	c.349	CCDS12327.1	19	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055403	0.55325	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.66280	-0.2;-0.2	4.24	4.24	0.50183	.	0.000000	0.50627	D	0.000116	T	0.46639	0.1403	N	0.25957	0.775	0.54753	D	0.999987	B	0.18013	0.025	B	0.26864	0.074	T	0.33292	-0.9874	10	0.11794	T	0.64	-34.304	12.0149	0.53309	0.0:0.0:1.0:0.0	.	117	Q9H6B9	EPHX3_HUMAN	I	117	ENSP00000221730:L117I;ENSP00000410323:L117I	ENSP00000221730:L117I	L	-	1	0	EPHX3	15203188	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	2.791000	0.47829	2.203000	0.70933	0.462000	0.41574	CTC	EPHX3	-	prints_Epox_hydrolase-like	ENSG00000105131		0.627	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EPHX3	HGNC	protein_coding	OTTHUMT00000465797.1		0	10	0	G	NM_024794		15342188	-1			no_errors	ENST00000221730	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	15342188	G	T	15342188	3	4	69	1	0	0	0	0	1	0	0	0	5197	971	34	3	753	3	EPHX3	19	15342188	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2022496	15342188	43786795	235	18911											
ELL	8178	genome.wustl.edu	37	chr19	18557181	18557181	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagctgggtgaaccgccGcgtgatgcgctcaatgcggg	6	7	17	11	6	1	2	1	2	0	0	2	3	1	2	2	2	4	2	2	2	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:18557181G>T	ENST00000262809.4	-	10	1713	c.1642C>A	c.(1642-1644)Cgg>Agg	p.R548R	ELL_ENST00000596124.3_Silent_p.R415R|CTD-3137H5.1_ENST00000594590.2_RNA	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	548					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GTGAACCGCCGCGTGATGCGC	0.652			T	MLL	AL																																			Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													46	40	42					19																	18557181		2202	4299	6501	SO:0001819	synonymous_variant	0			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1642C>A	19.37:g.18557181G>T				Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R548	ENST00000262809.4	37	c.1642	CCDS12380.1	19																																																																																			ELL	-	pfam_Occludin_RNApol2_elong_fac_ELL	ENSG00000105656		0.652	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1		0	15	0	G	NM_006532		18557181	-1			no_errors	ENST00000262809	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.836	T	T	18557181	G	T	18557181	2	4	69	1	0	0	0	0	0	0	0	1	5078	1086	38	2		2	ELL	19	18557181	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3214993	18557181	40571802	236	18912											
ZNF208	7757	genome.wustl.edu	37	chr19	22156826	22156826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatttgtagggcttctctCcagcatgaattgccttatgt	8	16	8	9	0	1	1	0	1	1	0	3	1	2	1	2	1	3	3	2	1	4	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:22156826C>A	ENST00000397126.4	-	4	1158	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGCTTCTCTCCAGCATGAAT	0.393																																																	0													52	54	53					19																	22156826		2042	4195	6237	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1010G>T	19.37:g.22156826C>A	ENSP00000380315:p.Gly337Val			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G337V	ENST00000397126.4	37	c.1010	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951028	0.34471	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.23552	1.9	2.69	0.368	0.16146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42040	0.1185	.	.	.	0.31263	N	0.692646	D	0.76494	0.999	D	0.70227	0.968	T	0.45101	-0.9284	8	0.87932	D	0	.	4.522	0.11964	0.0:0.5759:0.1825:0.2416	.	337	O43345	ZN208_HUMAN	V	337	ENSP00000380315:G337V	ENSP00000380315:G337V	G	-	2	0	ZNF208	21948666	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.182000	0.32029	-0.244000	0.09639	-0.643000	0.03959	GGA	ZNF208	-	pfscan_Znf_C2H2	ENSG00000160321		0.393	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	62	0	C	NM_007153		22156826	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	19.72	57	14	SNP	0.350	A	A	22156826	C	A	22156826	3	1	69	1	0	0	0	0	1	0	0	0	17814	855	30	3	2836	3	ZNF208	19	22156826	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3599645	22156826	36972157	237	18913											
ZNF99	7652	genome.wustl.edu	37	chr19	22940992	22940992	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtgaagattgcttaaaAgctttgccacattcttcaca	13	13	7	8	0	2	3	1	1	1	2	2	3	2	3	1	0	3	2	1	0	3	5	rs369557719		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:22940992A>G	ENST00000596209.1	-	4	1809	c.1719T>C	c.(1717-1719)gcT>gcC	p.A573A	ZNF99_ENST00000397104.3_Silent_p.A482A	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	573					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTGCTTAAAAGCTTTGCCAC	0.358																																																	0								A		0,4190		0,0,2095	50	54	52		1446	1.4	0	19		52	5,8455		0,5,4225	no	coding-synonymous	ZNF99	NM_001080409.2		0,5,6320	GG,GA,AA		0.0591,0.0,0.0395		482/912	22940992	5,12645	2095	4230	6325	SO:0001819	synonymous_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1719T>C	19.37:g.22940992A>G			M0R335	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A482	ENST00000596209.1	37	c.1446	CCDS59369.1	19																																																																																			ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	34	0	A	XM_065124		22940992	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.055	G	G	22940992	A	G	22940992	2	3	69	1	0	0	0	0	0	0	0	1	18252	59	3	4		4	ZNF99	19	22940992	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	784166	22940992	36187991	238	18914											
ZNF536	9745	genome.wustl.edu	37	chr19	30936157	30936157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttctgtttgataaggagaAgcgggagtacgtgttagtgg	9	12	17	3	2	1	2	0	1	1	1	1	4	1	3	0	4	2	4	0	4	4	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:30936157A>C	ENST00000355537.3	+	2	1835	c.1688A>C	c.(1687-1689)aAg>aCg	p.K563T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	563					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GATAAGGAGAAGCGGGAGTAC	0.532																																																	0													83	89	87					19																	30936157		2203	4300	6503	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1688A>C	19.37:g.30936157A>C	ENSP00000347730:p.Lys563Thr		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K563T	ENST00000355537.3	37	c.1688	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	A	17.05	3.289433	0.59976	.	.	ENSG00000198597	ENST00000355537	T	0.45668	0.89	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	L	0.58101	1.795	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.62609	-0.6818	10	0.54805	T	0.06	-34.7656	15.6549	0.77126	1.0:0.0:0.0:0.0	.	563;563	A7E228;O15090	.;ZN536_HUMAN	T	563	ENSP00000347730:K563T	ENSP00000347730:K563T	K	+	2	0	ZNF536	35627997	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.924000	0.92827	2.087000	0.62958	0.533000	0.62120	AAG	ZNF536	-	NULL	ENSG00000198597		0.532	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	41	0	A	NM_014717		30936157	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	C	C	30936157	A	C	30936157	3	2	69	1	0	0	0	0	1	0	0	0	18022	72	3	4	1690	4	ZNF536	19	30936157	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	7995165	30936157	28192826	239	18915											
CAPN12	147968	genome.wustl.edu	37	chr19	39229076	39229076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcgctccaggcccccGtccactccacgcagccccat	6	6	7	22	3	0	0	0	0	0	0	4	0	3	0	8	1	1	2	8	1	0	0	rs565486508		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:39229076G>A	ENST00000328867.4	-	7	1180	c.872C>T	c.(871-873)aCg>aTg	p.T291M	CTD-2540F13.2_ENST00000602255.1_RNA|CAPN12_ENST00000601953.1_Missense_Mutation_p.T142M	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	291	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCAGGCCCCCGTCCACTCCAC	0.697													G|||	1	0.000199681	0	0	5008	,	,		14738	0		0	False		,,,				2504	0.001																0													30	33	32					19																	39229076		2200	4299	6499	SO:0001583	missense	0			BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"EF-hand domain containing"	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.872C>T	19.37:g.39229076G>A	ENSP00000331636:p.Thr291Met			Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.T291M	ENST00000328867.4	37	c.872	CCDS12519.1	19	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578251	0.45902	.	.	ENSG00000182472	ENST00000328867	D	0.88201	-2.35	4.91	-4.19	0.03835	Peptidase C2, calpain, catalytic domain (3);	1.080950	0.07111	N	0.842205	D	0.89220	0.6653	M	0.73753	2.245	0.09310	N	0.999991	D	0.63880	0.993	P	0.48677	0.586	T	0.83328	-0.0014	10	0.87932	D	0	.	10.0946	0.42466	0.0:0.111:0.3281:0.5609	.	291	Q6ZSI9	CAN12_HUMAN	M	291	ENSP00000331636:T291M	ENSP00000331636:T291M	T	-	2	0	CAPN12	43920916	0.002000	0.14202	0.509000	0.27700	0.534000	0.34807	-0.122000	0.10627	-0.107000	0.12088	0.462000	0.41574	ACG	CAPN12	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000182472		0.697	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN12	HGNC	protein_coding	OTTHUMT00000462151.1	-	0	74	0	G			39229076	-1	tier1	-	no_errors	ENST00000328867	ensembl	human	known	74_37	missense	28.89	64	26	SNP	0.030	A	A	39229076	G	A	39229076	3	1	69	1	0	0	0	0	1	0	0	0	2632	1145	40	1	1347	1	CAPN12	19	39229076	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	8292919	39229076	19899907	240	18916											
PNMAL2	57469	genome.wustl.edu	37	chr19	46998401	46998401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcatccagcagcaggcGtctcatctgcctcaggaccc	7	7	9	18	2	4	0	3	0	2	0	6	1	5	1	4	2	3	2	4	2	0	0	rs538950722		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:46998401G>A	ENST00000377655.2	-	1	321	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000599531.1_Missense_Mutation_p.R108C|AC011484.1_ENST00000377652.3_Missense_Mutation_p.R171H			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	108										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		AGCAGCAGGCGTCTCATCTGC	0.687													G|||	1	0.000199681	0	0	5008	,	,		16145	0		0	False		,,,				2504	0.001																0													92	98	96					19																	46998401		2203	4300	6503	SO:0001583	missense	0			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"Paraneoplastic Ma antigens"	29206	protein-coding gene	gene with protein product			"PNMA-like 2"			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.322C>T	19.37:g.46998401G>A	ENSP00000366883:p.Arg108Cys		C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	NULL	p.R108C	ENST00000377655.2	37	c.322		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.778193|3.778193	0.70107|0.70107	.|.	.|.	ENSG00000204851|ENSG00000204850	ENST00000377655|ENST00000377652	T|.	0.10099|.	2.91|.	2.87|2.87	0.667|0.667	0.17907|0.17907	.|.	.|.	.|.	.|.	.|.	T|T	0.16642|0.16642	0.0400|0.0400	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P|P	0.37352|0.39535	0.591|0.677	B|B	0.27170|0.31290	0.077|0.127	T|T	0.15235|0.15235	-1.0444|-1.0444	9|8	0.39692|0.87932	T|D	0.17|0	-3.2221|-3.2221	4.2347|4.2347	0.10620|0.10620	0.1373:0.2382:0.6245:0.0|0.1373:0.2382:0.6245:0.0	.|.	108|171	Q9ULN7|Q6ZVU4	PNML2_HUMAN|.	C|H	108|171	ENSP00000366883:R108C|.	ENSP00000366883:R108C|ENSP00000366880:R171H	R|R	-|+	1|2	0|0	PNMAL2|AC011484.1	51690241|51690241	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.745000|0.745000	0.42441|0.42441	0.310000|0.310000	0.19356|0.19356	0.249000|0.249000	0.21456|0.21456	0.561000|0.561000	0.74099|0.74099	CGC|CGT	PNMAL2	-	NULL	ENSG00000204851		0.687	PNMAL2-201	KNOWN	basic	protein_coding	PNMAL2	HGNC	protein_coding		-	0	47	0	G	NM_020709		46998401	-1	tier1	-	no_errors	ENST00000599531	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.002	A	A	46998401	G	A	46998401	3	1	69	1	0	0	0	0	1	0	0	0	12197	1145	40	1	1589	1	PNMAL2	19	46998401	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	7769325	46998401	12130582	241	18917											
ZC3H4	23211	genome.wustl.edu	37	chr19	47589768	47589768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacggcttcctcggcccCtgtagccccggccccggcct	2	7	10	22	4	0	0	0	0	0	0	3	0	2	0	9	4	1	2	9	4	1	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:47589768C>A	ENST00000253048.5	-	6	780	c.743G>T	c.(742-744)aGg>aTg	p.R248M	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	248	Gly-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGGCCCCTGTAGCCCCG	0.652																																																	0													33	38	36					19																	47589768		1928	4117	6045	SO:0001583	missense	0			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.743G>T	19.37:g.47589768C>A	ENSP00000253048:p.Arg248Met		Q9Y420	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R248M	ENST00000253048.5	37	c.743	CCDS42582.1	19	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718086	0.48622	.	.	ENSG00000130749	ENST00000253048	T	0.28454	1.61	5.12	5.12	0.69794	.	0.691975	0.13544	N	0.379948	T	0.48429	0.1499	L	0.47716	1.5	0.51482	D	0.999929	D	0.76494	0.999	P	0.61328	0.887	T	0.37267	-0.9713	10	0.51188	T	0.08	.	17.7009	0.88294	0.0:1.0:0.0:0.0	.	248	Q9UPT8	ZC3H4_HUMAN	M	248	ENSP00000253048:R248M	ENSP00000253048:R248M	R	-	2	0	ZC3H4	52281608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.429000	0.52800	2.540000	0.85666	0.655000	0.94253	AGG	ZC3H4	-	NULL	ENSG00000130749		0.652	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	-	0	43	0	C			47589768	-1	tier1	-	no_errors	ENST00000253048	ensembl	human	known	74_37	missense	30.77	45	20	SNP	0.998	A	A	47589768	C	A	47589768	3	1	69	1	0	0	0	0	1	0	0	0	17618	681	24	3	3208	3	ZC3H4	19	47589768	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	591367	47589768	11539215	242	18918											
KCNC3	3748	genome.wustl.edu	37	chr19	50826891	50826891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggtgctggcgcggagcGtgtgtcccagcacgcgcagc	4	7	17	13	6	0	0	0	0	0	0	1	1	1	1	1	3	4	4	1	3	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:50826891G>A	ENST00000477616.1	-	2	1613	c.1319C>T	c.(1318-1320)aCg>aTg	p.T440M	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Missense_Mutation_p.T440M|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	440					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GGCGCGGAGCGTGTGTCCCAG	0.627																																					Melanoma(91;1496 2324 50908)												0													67	67	67					19																	50826891		2203	4300	6503	SO:0001583	missense	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1319C>T	19.37:g.50826891G>A	ENSP00000434241:p.Thr440Met			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.T440M	ENST00000477616.1	37	c.1319	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	g	21.6	4.179299	0.78564	.	.	ENSG00000131398	ENST00000376959;ENST00000477616;ENST00000443843	D;D	0.98437	-4.93;-4.93	3.19	3.19	0.36642	Ion transport (1);	0.000000	0.64402	U	0.000001	D	0.98773	0.9587	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99204	1.0874	10	0.87932	D	0	.	13.6416	0.62255	0.0:0.0:1.0:0.0	.	440;440	Q14003;E7ETH1	KCNC3_HUMAN;.	M	440;440;254	ENSP00000366158:T440M;ENSP00000434241:T440M	ENSP00000366158:T440M	T	-	2	0	KCNC3	55518703	1.000000	0.71417	0.947000	0.38551	0.963000	0.63663	9.464000	0.97655	1.809000	0.52856	0.486000	0.48141	ACG	KCNC3	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000131398		0.627	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	-	0	46	0	G	NM_004977		50826891	-1	tier1	-	no_errors	ENST00000477616	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	A	A	50826891	G	A	50826891	3	1	69	1	0	0	0	0	1	0	0	0	8043	1145	40	1	966	1	KCNC3	19	50826891	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3237123	50826891	8302092	243	18919											
KLK4	9622	genome.wustl.edu	37	chr19	51410265	51410265	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagacacctggcacgccaacTtggccacacggggcttttcc	8	8	10	15	2	0	1	0	0	0	1	1	1	1	1	4	4	1	2	4	4	2	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:51410265T>G	ENST00000324041.1	-	5	689	c.690A>C	c.(688-690)caA>caC	p.Q230H	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	230	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCACGCCAACTTGGCCACACG	0.557																																																	0													96	94	95					19																	51410265		2203	4300	6503	SO:0001583	missense	0			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.690A>C	19.37:g.51410265T>G	ENSP00000326159:p.Gln230His		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q230H	ENST00000324041.1	37	c.690	CCDS12809.1	19	.	.	.	.	.	.	.	.	.	.	t	12.95	2.091504	0.36952	.	.	ENSG00000167749	ENST00000324041	D	0.89050	-2.46	3.63	-3.73	0.04398	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.920246	0.08857	N	0.883654	D	0.89104	0.6620	L	0.49640	1.575	0.09310	N	1	D	0.71674	0.998	P	0.58820	0.846	T	0.81276	-0.1006	10	0.39692	T	0.17	.	9.2264	0.37410	0.0:0.6899:0.1519:0.1582	.	230	Q9Y5K2	KLK4_HUMAN	H	230	ENSP00000326159:Q230H	ENSP00000326159:Q230H	Q	-	3	2	KLK4	56102077	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.683000	0.01934	-0.546000	0.06216	-0.296000	0.09543	CAA	KLK4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167749		0.557	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1	-	0	43	0	T	NM_004917		51410265	-1	tier1	-	no_errors	ENST00000324041	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.005	G	G	51410265	T	G	51410265	3	3	69	1	0	0	0	0	1	0	0	0	8433	1606	56	4	78	4	KLK4	19	51410265	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	583374	51410265	7718718	244	18920											
KLK4	9622	genome.wustl.edu	37	chr19	51411862	51411862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagaccccagccagaaaCgaggcaagagttccccgcgg	12	2	12	15	3	0	3	0	0	0	3	1	4	1	3	5	2	3	3	5	2	2	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:51411862C>T	ENST00000324041.1	-	3	447	c.448G>A	c.(448-450)Gtt>Att	p.V150I	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Missense_Mutation_p.V101I	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAGCCAGAAACGAGGCAAGAG	0.617																																																	0													95	76	83					19																	51411862		2203	4300	6503	SO:0001583	missense	0			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.448G>A	19.37:g.51411862C>T	ENSP00000326159:p.Val150Ile		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V150I	ENST00000324041.1	37	c.448	CCDS12809.1	19	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983540	0.35036	.	.	ENSG00000167749	ENST00000324041;ENST00000431178	D;D	0.94280	-3.39;-3.39	3.99	1.76	0.24704	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.35805	N	0.002974	D	0.92024	0.7473	L	0.41124	1.26	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.82450	-0.0451	10	0.13470	T	0.59	.	4.2071	0.10493	0.0:0.5923:0.1937:0.214	.	101;150	Q96JD7;Q9Y5K2	.;KLK4_HUMAN	I	150;101	ENSP00000326159:V150I;ENSP00000399448:V101I	ENSP00000326159:V150I	V	-	1	0	KLK4	56103674	0.001000	0.12720	0.002000	0.10522	0.004000	0.04260	-0.015000	0.12634	0.429000	0.26202	-0.258000	0.10820	GTT	KLK4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167749		0.617	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1	-	0	39	0	C	NM_004917		51411862	-1	tier1	-	no_errors	ENST00000324041	ensembl	human	known	74_37	missense	29.31	41	17	SNP	0.006	T	T	51411862	C	T	51411862	3	4	69	1	0	0	0	0	1	0	0	0	8433	536	19	1	328	1	KLK4	19	51411862	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	1597	51411862	7717121	245	18921											
SIGLEC5	8778	genome.wustl.edu	37	chr19	52130727	52130727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgaccttgcagcagcaGgacagagccgctctgggacc	8	5	12	16	1	1	2	0	1	1	1	1	4	1	4	5	2	4	4	5	2	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:52130727G>T	ENST00000534261.2	-	7	1669	c.1270C>A	c.(1270-1272)Ctg>Atg	p.L424M	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.L424M|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.L424M|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.L424M|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.L424M			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	424					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGCAGCAGCAGGACAGAGCCG	0.637																																																	0													86	88	88					19																	52130727		2203	4300	6503	SO:0001583	missense	0			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1270C>A	19.37:g.52130727G>T	ENSP00000473238:p.Leu424Met			Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L424M	ENST00000534261.2	37	c.1270	CCDS33088.1	19	.	.	.	.	.	.	.	.	.	.	G	5.303	0.241287	0.10077	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.04360	3.64;3.64	3.85	2.79	0.32731	.	.	.	.	.	T	0.21962	0.0529	M	0.84683	2.71	0.09310	N	1	D	0.56968	0.978	D	0.67382	0.951	T	0.03630	-1.1018	9	0.62326	D	0.03	.	12.0479	0.53491	0.0:0.1779:0.8221:0.0	.	424	O15389	SIGL5_HUMAN	M	424	ENSP00000222107:L424M;ENSP00000415200:L424M	ENSP00000222107:L424M	L	-	1	2	SIGLEC5	56822539	0.008000	0.16893	0.252000	0.24328	0.098000	0.18820	0.197000	0.17197	0.399000	0.25367	-2.158000	0.00328	CTG	SIGLEC5	-	NULL	ENSG00000105501		0.637	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466897.2	-	0	78	0	G	NM_003830		52130727	-1	tier1	-	no_errors	ENST00000222107	ensembl	human	known	74_37	missense	41.18	60	42	SNP	0.222	T	T	52130727	G	T	52130727	3	4	69	1	0	0	0	0	1	0	0	0	14356	991	35	3	401	3	SIGLEC5	19	52130727	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	718865	52130727	6998256	246	18922											
ZNF766	90321	genome.wustl.edu	37	chr19	52793491	52793491	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttcagtttcgccactTcaaagaatttactctggggt	9	15	8	9	1	4	1	2	0	2	1	5	1	4	1	1	2	1	2	1	2	3	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:52793491T>G	ENST00000439461.1	+	4	490	c.447T>G	c.(445-447)ctT>ctG	p.L149L	ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000593612.1_Silent_p.L164L|CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.L164L	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	149					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTTCGCCACTTCAAAGAATTT	0.363																																																	0													60	61	60					19																	52793491		1889	4124	6013	SO:0001819	synonymous_variant	0			AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"Zinc fingers, C2H2-type", "-"	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.447T>G	19.37:g.52793491T>G			B2RNE0|Q7Z326	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L164	ENST00000439461.1	37	c.492	CCDS46163.1	19																																																																																			ZNF766	-	NULL	ENSG00000196214		0.363	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF766	HGNC	protein_coding	OTTHUMT00000462764.1		0	11	0	T	NM_001010851		52793491	1			no_errors	ENST00000359102	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.000	G	G	52793491	T	G	52793491	2	3	69	1	0	0	0	0	0	0	0	1	18188	1770	62	4		4	ZNF766	19	52793491	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	662764	52793491	6335492	247	18923											
ZNF415	55786	genome.wustl.edu	37	chr19	53613064	53613064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaactcttcaatgtcatgTttttcatgttgttccaatgt	10	18	5	8	0	4	0	3	0	1	0	5	0	5	0	1	0	1	3	1	0	4	5	rs139795456	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:53613064T>A	ENST00000500065.4	-	4	567	c.234A>T	c.(232-234)aaA>aaT	p.K78N	ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.K90N|ZNF415_ENST00000448501.1_Missense_Mutation_p.K126N|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.K126N|ZNF415_ENST00000595813.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.K78N|ZNF415_ENST00000601215.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.K65N|ZNF415_ENST00000594011.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CAATGTCATGTTTTTCATGTT	0.388																																																	0													159	138	145					19																	53613064		2203	4300	6503	SO:0001583	missense	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.234A>T	19.37:g.53613064T>A	ENSP00000439435:p.Lys78Asn		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2	p.K126N	ENST00000500065.4	37	c.378	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	T	10.66	1.412677	0.25465	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.07567	3.3;3.29;3.18;3.19;3.18;3.23	2.5	-1.97	0.07503	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B;P;B;B;B;B	0.39326	0.006;0.668;0.006;0.014;0.006;0.011	B;B;B;B;B;B	0.39660	0.015;0.306;0.006;0.001;0.015;0.015	T	0.35375	-0.9791	9	0.29301	T	0.29	.	2.4264	0.04460	0.4319:0.0:0.3253:0.2429	.	78;126;126;78;65;90	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	N	78;78;126;90;126;65	ENSP00000243643:K78N;ENSP00000439435:K78N;ENSP00000396492:K126N;ENSP00000395055:K90N;ENSP00000388787:K126N;ENSP00000414601:K65N	ENSP00000243643:K78N	K	-	3	2	ZNF415	58304876	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.212000	0.01225	-0.454000	0.07066	0.260000	0.18958	AAA	ZNF415	-	NULL	ENSG00000170954		0.388	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	-	0	81	0	T	NM_018355		53613064	-1	tier1	-	no_errors	ENST00000448501	ensembl	human	known	74_37	missense	5.26	108	6	SNP	0.000	A	A	53613064	T	A	53613064	3	1	69	1	0	0	0	0	1	0	0	0	17940	1722	60	5	1437	5	ZNF415	19	53613064	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	819573	53613064	5515919	248	18924											
VN1R2	317701	genome.wustl.edu	37	chr19	53762665	53762665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcgataattccagttGgtggctagtgaacactgctg	8	14	10	9	1	1	1	0	1	1	0	4	2	2	1	1	2	2	3	1	2	3	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:53762665G>T	ENST00000341702.3	+	1	1121	c.1037G>T	c.(1036-1038)tGg>tTg	p.W346L	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	346					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AATTCCAGTTGGTGGCTAGTG	0.468																																																	0													252	227	235					19																	53762665		2203	4300	6503	SO:0001583	missense	0			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1037G>T	19.37:g.53762665G>T	ENSP00000351244:p.Trp346Leu		A1L411|Q8TDU4	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.W346L	ENST00000341702.3	37	c.1037	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	G	4.793	0.147404	0.09134	.	.	ENSG00000196131	ENST00000341702	T	0.07216	3.21	2.94	0.61	0.17580	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04272	0.0118	N	0.11892	0.195	0.09310	N	1	B	0.21147	0.052	B	0.20577	0.03	T	0.46428	-0.9192	9	0.22109	T	0.4	.	6.3025	0.21121	0.0:0.3908:0.4096:0.1997	.	346	Q8NFZ6	VN1R2_HUMAN	L	346	ENSP00000351244:W346L	ENSP00000351244:W346L	W	+	2	0	VN1R2	58454477	0.008000	0.16893	0.001000	0.08648	0.086000	0.17979	-0.228000	0.09114	0.270000	0.21984	0.596000	0.82720	TGG	VN1R2	-	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196131		0.468	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	-	0	79	0	G	NM_173856		53762665	1	tier1	-	no_errors	ENST00000341702	ensembl	human	known	74_37	missense	11.97	103	14	SNP	0.002	T	T	53762665	G	T	53762665	3	4	69	1	0	0	0	0	1	0	0	0	17228	1357	47	3	1039	3	VN1R2	19	53762665	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	149601	53762665	5366318	249	18925											
LILRB2	10288	genome.wustl.edu	37	chr19	54784144	54784147	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															tgcacgtgggtcctggggccCagactcagccctggaagaga																										TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	CAGA	CAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:54784144_54784147delCAGA	ENST00000391749.4	-	3	313_316	c.42_45delTCTG	c.(40-45)agtctgfs	p.SL14fs	MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000314446.5_Frame_Shift_Del_p.SL14fs|LILRB2_ENST00000391748.1_Frame_Shift_Del_p.SL14fs|LILRB2_ENST00000391746.1_Frame_Shift_Del_p.SL14fs|LILRB2_ENST00000434421.1_Intron	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	14					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L15M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTGGGGCCCAGACTCAGCCCTG	0.642																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.42_45delTCTG	19.37:g.54784144_54784147delCAGA	ENSP00000375629:p.Ser14fs		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Frame_Shift_Del	DEL	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S14fs	ENST00000391749.4	37	c.45_42	CCDS12886.1	19																																																																																			LILRB2	-	NULL	ENSG00000131042		0.642	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1		0	109	0	CAGA			54784147	-1			no_errors	ENST00000391749	ensembl	human	known	74_37	frame_shift_del	7.25	179	14	DEL	0.003:0.001:0.005:0.023	0	-	54784147	CAGA	-	54784144	7	5	69	1	0	1	0	1	0	0	0	0	8820	581	21	0	1799	0	LILRB2	19	54784144	Frame_Shift_Del	DEL	CAGA	TCGA-L5-A4OW-01A-11D-A28B-09	1021479	54784144	4344839	250	18926											
ZNF470	388566	genome.wustl.edu	37	chr19	57088951	57088951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatgcttctcttatacGtcatcggcgatattatcata	11	14	7	9	3	3	1	2	0	1	1	5	2	3	1	0	1	2	2	0	1	6	6	rs141373983	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr19:57088951G>A	ENST00000330619.8	+	6	1840	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R385H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R385H(1)|p.R385P(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCTCTTATACGTCATCGGCGA	0.418																																																	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)											94	87	90					19																	57088951		2203	4300	6503	SO:0001583	missense	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1154G>A	19.37:g.57088951G>A	ENSP00000333223:p.Arg385His		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R385H	ENST00000330619.8	37	c.1154	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	-	8.503	0.864750	0.17250	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.26810	1.71;1.71	4.17	0.555	0.17247	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21022	0.0506	N	0.25060	0.705	0.09310	N	1	D	0.60575	0.988	P	0.52598	0.703	T	0.11817	-1.0572	9	0.45353	T	0.12	.	3.6782	0.08299	0.1002:0.1658:0.5639:0.1701	.	385	Q6ECI4	ZN470_HUMAN	H	385	ENSP00000375590:R385H;ENSP00000333223:R385H	ENSP00000333223:R385H	R	+	2	0	ZNF470	61780763	0.000000	0.05858	0.510000	0.27712	0.064000	0.16182	-0.779000	0.04659	0.929000	0.37192	0.590000	0.80494	CGT	ZNF470	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197016		0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	-	0	33	0	G	NM_001001668		57088951	1	tier1	-	no_errors	ENST00000330619	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.000	A	A	57088951	G	A	57088951	3	1	69	1	0	0	0	0	1	0	0	0	17977	1145	40	1	1168	1	ZNF470	19	57088951	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2304807	57088951	2040032	251	18927											
DEFB118	117285	genome.wustl.edu	37	chr20	29960724	29960724	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacaatgcaaagatggAgaagcagtgaaagatacatg	20	5	12	4	0	0	4	0	1	0	3	0	6	0	5	0	2	4	2	0	2	6	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr20:29960724A>T	ENST00000253381.2	+	2	156	c.123A>T	c.(121-123)ggA>ggT	p.G41G		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	41					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAAAGATGGAGAAGCAGTGA	0.438																																																	0													123	111	115					20																	29960724		2203	4300	6503	SO:0001819	synonymous_variant	0			AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"Defensins, beta"	16196	protein-coding gene	gene with protein product		607650	"chromosome 20 open reading frame 63"	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.123A>T	20.37:g.29960724A>T			Q17RC4|Q8N691|Q9NUH0	Silent	SNP	NULL	p.G41	ENST00000253381.2	37	c.123	CCDS13177.1	20																																																																																			DEFB118	-	NULL	ENSG00000131068		0.438	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB118	HGNC	protein_coding	OTTHUMT00000078501.2	-	0	37	0	A	NM_054112		29960724	1	tier1	-	no_errors	ENST00000253381	ensembl	human	known	74_37	silent	20.73	65	17	SNP	0.000	T	T	29960724	A	T	29960724	2	4	69	1	0	0	0	0	0	0	0	1	4419	291	11	5		5	DEFB118	20	29960724	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		29960724	33064796	252	18928											
C20orf132	140699	genome.wustl.edu	37	chr20	35769704	35769704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagctcatttgaatcaagaAaaccttcaaagacctgaaat	18	9	6	8	0	3	5	3	2	0	3	3	5	3	5	2	0	2	1	2	0	6	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr20:35769704A>C	ENST00000400441.3	-	12	1348	c.1349T>G	c.(1348-1350)tTt>tGt	p.F450C	MROH8_ENST00000217333.8_Intron|MROH8_ENST00000441008.2_Missense_Mutation_p.F436C			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	335																	TGAATCAAGAAAACCTTCAAA	0.388																																																	0													59	52	54					20																	35769704		1848	4090	5938	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.1349T>G	20.37:g.35769704A>C	ENSP00000383291:p.Phe450Cys		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F450C	ENST00000400441.3	37	c.1349		20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	15.36|15.36|15.36	2.811433|2.811433|2.811433	0.50527|0.50527|0.50527	.|.|.	.|.|.	ENSG00000101353|ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441|ENST00000421643|ENST00000343811;ENST00000400440	T;T|.|T;T	0.04970|.|0.04654	3.52;3.52|.|3.58;3.58	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	.|.|.	0.091745|0.091745|0.091745	0.48767|0.48767|0.48767	D|N|D	0.000173|0.000173|0.000173	T|T|T	0.11922|0.11922|0.11922	0.0290|0.0290|0.0290	M|M|M	0.66939|0.66939|0.66939	2.045|2.045|2.045	0.39327|0.39327|0.39327	D|D|D	0.965357|0.965357|0.965357	D;D;D|.|.	0.89917|.|.	0.999;1.0;1.0|.|.	D;D;D|.|.	0.70935|.|.	0.946;0.971;0.971|.|.	T|T|T	0.22173|0.22173|0.22173	-1.0224|-1.0224|-1.0224	10|6|8	0.38643|.|0.15952	T|.|T	0.18|.|0.53	-12.6004|-12.6004|-12.6004	12.9124|12.9124|12.9124	0.58187|0.58187|0.58187	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	450;335;460|.|.	E7ETR9;Q9H579;Q6PF12|.|.	.;CT132_HUMAN;.|.|.	C|L|V	436;450|451|477;481	ENSP00000392144:F436C;ENSP00000383291:F450C|.|ENSP00000339971:F477V;ENSP00000383290:F481V	ENSP00000383291:F450C|.|ENSP00000339971:F477V	F|F|F	-|-|-	2|3|1	0|2|0	C20orf132|C20orf132|C20orf132	35203118|35203118|35203118	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.530000|0.530000|0.530000	0.34684|0.34684|0.34684	4.149000|4.149000|4.149000	0.58091|0.58091|0.58091	2.299000|2.299000|2.299000	0.77371|0.77371|0.77371	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	TTT|TTT|TTC	MROH8	-	superfamily_ARM-type_fold	ENSG00000101353		0.388	MROH8-202	KNOWN	basic|appris_principal	protein_coding	MROH8	HGNC	protein_coding		-	0	23	0	A	NM_152503		35769704	-1	tier1	-	no_errors	ENST00000400441	ensembl	human	known	74_37	missense	13.73	44	7	SNP	1.000	C	C	35769704	A	C	35769704	3	2	69	1	0	0	0	0	1	0	0	0	2093	14	1	4	1843	4	C20orf132	20	35769704	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	5808980	35769704	27255816	253	18929											
PLCG1	5335	genome.wustl.edu	37	chr20	39794968	39794968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagcaggtgcccctgcGctgtaatgagtttgagatgc	8	10	12	11	1	0	2	0	2	0	1	0	3	0	2	3	1	5	4	3	1	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr20:39794968G>A	ENST00000373271.1	+	17	2339	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	PLCG1_ENST00000373272.2_Missense_Mutation_p.R645H|PLCG1_ENST00000244007.3_Missense_Mutation_p.R645H	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	645	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTGCCCCTGCGCTGTAATGAG	0.582																																																	0													89	83	85					20																	39794968		2203	4300	6503	SO:0001583	missense	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1934G>A	20.37:g.39794968G>A	ENSP00000362368:p.Arg645His		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.R645H	ENST00000373271.1	37	c.1934	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313193	0.81358	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.93019	-3.15;-3.15;-3.15	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology domain (1);SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.988;0.938;0.973	D	0.97909	1.0307	10	0.87932	D	0	.	19.6109	0.95606	0.0:0.0:1.0:0.0	.	645;645;645	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	H	645	ENSP00000244007:R645H;ENSP00000362368:R645H;ENSP00000362369:R645H	ENSP00000244007:R645H	R	+	2	0	PLCG1	39228382	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	9.869000	0.99810	2.653000	0.90120	0.491000	0.48974	CGC	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,smart_SH2,pirsf_PLC-gamma,pfscan_SH2	ENSG00000124181		0.582	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	-	0	39	0	G	NM_182811		39794968	1	tier1	-	no_errors	ENST00000244007	ensembl	human	known	74_37	missense	50.65	38	39	SNP	1.000	A	A	39794968	G	A	39794968	3	1	69	1	0	0	0	0	1	0	0	0	12074	1087	38	1	2000	1	PLCG1	20	39794968	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	4025264	39794968	23230552	254	18930											
TTPAL	79183	genome.wustl.edu	37	chr20	43118107	43118107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccagacgctgctgccCgagggcctgacctcagatgc	6	6	14	15	2	1	3	1	1	0	2	1	4	1	3	4	2	3	2	4	2	0	0	rs374289262		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr20:43118107C>T	ENST00000372904.3	+	6	1097	c.954C>T	c.(952-954)ccC>ccT	p.P318P	TTPAL_ENST00000372906.2_3'UTR|TTPAL_ENST00000262605.4_Silent_p.P318P	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	318						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CGCTGCTGCCCGAGGGCCTGA	0.577																																																	0								T	,	1,4405	826.1+/-416.6	0,1,2202	60	56	58		954,954	-12.3	0	20		58	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TTPAL	NM_001039199.1,NM_024331.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	318/343,318/343	43118107	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.954C>T	20.37:g.43118107C>T			E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P318	ENST00000372904.3	37	c.954	CCDS13332.2	20																																																																																			TTPAL	-	NULL	ENSG00000124120		0.577	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2	-	0	44	0	C	NM_024331		43118107	1	tier1	-	no_errors	ENST00000262605	ensembl	human	known	74_37	silent	17.53	80	17	SNP	0.000	T	T	43118107	C	T	43118107	2	4	69	1	0	0	0	0	0	0	0	1	16786	639	23	1		1	TTPAL	20	43118107	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3323139	43118107	19907413	255	18931											
NCOA3	8202	genome.wustl.edu	37	chr20	46279857	46279857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcaacagcaacagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs561036149	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr20:46279857G>A	ENST00000371998.3	+	20	3974	c.3783G>A	c.(3781-3783)caG>caA	p.Q1261Q	NCOA3_ENST00000341724.6_Silent_p.Q1187Q|NCOA3_ENST00000372004.3_Silent_p.Q1257Q|NCOA3_ENST00000371997.3_Silent_p.Q1252Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1261	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcagcaac	0.572													G|||	3	0.000599042	8e-04	0	5008	,	,		14246	0		0	False		,,,				2504	0.002																0													50	54	53					20																	46279857		2203	4300	6503	SO:0001819	synonymous_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3783G>A	20.37:g.46279857G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1261	ENST00000371998.3	37	c.3783	CCDS13407.1	20																																																																																			NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.572	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0	62	0	G	NM_006534		46279857	1			no_errors	ENST00000371998	ensembl	human	known	74_37	silent	9.57	104	11	SNP	0.971	A	A	46279857	G	A	46279857	2	1	69	1	0	0	0	0	0	0	0	1	10269	962	34	3		3	NCOA3	20	46279857	Silent	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	3161750	46279857	16745663	256	18932											
CSTF1	1477	genome.wustl.edu	37	chr20	54978617	54978617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgacgagaggacgatcaGtctttgctgctgggactcga	8	8	14	11	4	2	1	1	0	1	1	3	7	2	3	1	2	2	2	1	2	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr20:54978617G>A	ENST00000217109.4	+	6	1482	c.1130G>A	c.(1129-1131)aGt>aAt	p.S377N	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	377					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AGGACGATCAGTCTTTGCTGC	0.592																																																	0													123	97	106					20																	54978617		2203	4300	6503	SO:0001583	missense	0				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"WD repeat domain containing"	2483	protein-coding gene	gene with protein product		600369	"cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1130G>A	20.37:g.54978617G>A	ENSP00000217109:p.Ser377Asn		Q5QPD8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S377N	ENST00000217109.4	37	c.1130	CCDS13452.1	20	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787156	0.70337	.	.	ENSG00000101138	ENST00000217109;ENST00000425890	D	0.81821	-1.54	5.45	5.45	0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82651	0.5083	M	0.79475	2.455	0.80722	D	1	B	0.22746	0.074	B	0.21360	0.034	T	0.80020	-0.1557	10	0.59425	D	0.04	-18.0584	19.7157	0.96119	0.0:0.0:1.0:0.0	.	377	Q05048	CSTF1_HUMAN	N	377;364	ENSP00000217109:S377N	ENSP00000217109:S377N	S	+	2	0	CSTF1	54412024	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	7.569000	0.82380	2.723000	0.93209	0.650000	0.86243	AGT	CSTF1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000101138		0.592	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF1	HGNC	protein_coding	OTTHUMT00000079794.2	-	0	53	0	G	NM_001033521		54978617	1	tier1	-	no_errors	ENST00000217109	ensembl	human	known	74_37	missense	10.13	71	8	SNP	1.000	A	A	54978617	G	A	54978617	3	1	69	1	0	0	0	0	1	0	0	0	3992	1029	36	3	1148	3	CSTF1	20	54978617	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	8698760	54978617	8046903	257	18933											
TIAM1	7074	genome.wustl.edu	37	chr21	32554886	32554886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgagggctgtgagaggaaAtctttgagcatagaagagtt	13	9	15	4	1	1	4	0	2	1	3	1	7	1	5	0	2	2	3	0	2	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr21:32554886A>T	ENST00000286827.3	-	16	3210	c.2739T>A	c.(2737-2739)gaT>gaA	p.D913E	TIAM1_ENST00000541036.1_Missense_Mutation_p.D853E	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	913					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGAGAGGAAATCTTTGAGCA	0.562																																																	0													72	67	69					21																	32554886		2203	4300	6503	SO:0001583	missense	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2739T>A	21.37:g.32554886A>T	ENSP00000286827:p.Asp913Glu		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.D913E	ENST00000286827.3	37	c.2739	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	9.270	1.045361	0.19748	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.26067	1.76;1.76	4.42	0.664	0.17890	PDZ/DHR/GLGF (3);	0.210163	0.41605	D	0.000858	T	0.16896	0.0406	L	0.47716	1.5	0.31693	N	0.641707	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.08554	-1.0716	10	0.29301	T	0.29	.	3.9193	0.09236	0.3941:0.3856:0.2203:0.0	.	853;853;913	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	E	913;754;853	ENSP00000286827:D913E;ENSP00000441570:D853E	ENSP00000286827:D913E	D	-	3	2	TIAM1	31476757	0.711000	0.27906	1.000000	0.80357	0.992000	0.81027	-0.393000	0.07305	0.239000	0.21243	0.454000	0.30748	GAT	TIAM1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ	ENSG00000156299		0.562	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	72	0	A	NM_003253		32554886	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	22.45	38	11	SNP	0.997	T	T	32554886	A	T	32554886	3	4	69	1	0	0	0	0	1	0	0	0	15937	98	4	5	2092	5	TIAM1	21	32554886	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		32554886	15575009	258	18934											
TSSK2	23617	genome.wustl.edu	37	chr22	19119927	19119927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatggaggacaggctggccGagacctccagggccaaagac	11	3	16	11	1	0	2	0	0	0	2	1	6	1	5	4	6	0	1	4	6	1	0	rs140549220		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr22:19119927G>A	ENST00000399635.2	+	1	1607	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	339					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CAGGCTGGCCGAGACCTCCAG	0.642																																																	0								G	,LYS/GLU	1,4399		0,1,2199	33	34	34		,1015	3	1	22	dbSNP_134	34	0,8588		0,0,4294	no	utr-3,missense	DGCR14,TSSK2	NM_022719.2,NM_053006.4	,56	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	,benign	,339/359	19119927	1,12987	2200	4294	6494	SO:0001583	missense	0			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"serine/threonine kinase 22B (spermiogenesis associated)"	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.1015G>A	22.37:g.19119927G>A	ENSP00000382544:p.Glu339Lys		Q8IY55	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E339K	ENST00000399635.2	37	c.1015	CCDS13755.1	22	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588270	0.46110	2.27E-4	0.0	ENSG00000206203	ENST00000399635	T	0.69926	-0.44	5.03	2.95	0.34219	.	0.000000	0.51477	D	0.000094	T	0.43433	0.1247	N	0.14661	0.345	0.28868	N	0.895157	D	0.56521	0.976	B	0.43680	0.427	T	0.35151	-0.9800	10	0.27785	T	0.31	.	3.7651	0.08619	0.0886:0.1652:0.5753:0.1709	.	339	Q96PF2	TSSK2_HUMAN	K	339	ENSP00000382544:E339K	ENSP00000382544:E339K	E	+	1	0	TSSK2	17499927	0.721000	0.28007	0.968000	0.41197	0.978000	0.69477	0.617000	0.24359	0.710000	0.31997	-0.150000	0.13652	GAG	TSSK2	-	NULL	ENSG00000206203		0.642	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	HGNC	protein_coding	OTTHUMT00000316431.1		0	14	0	G			19119927	1			no_errors	ENST00000399635	ensembl	human	known	74_37	missense	29.41	12	5	SNP	0.885	A	A	19119927	G	A	19119927	3	1	69	1	0	0	0	0	1	0	0	0	16717	1059	37	1	1017	1	TSSK2	22	19119927	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09		19119927	32184639	259	18935											
DGCR14	8220	genome.wustl.edu	37	chr22	19121821	19121821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagccaggcgccggtgtgCttgtgggggtctgcagccca	5	7	17	12	2	1	1	0	0	1	1	1	1	1	1	3	4	4	2	3	4	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr22:19121821C>T	ENST00000252137.6	-	10	1362	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	440					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CGCCGGTGTGCTTGTGGGGGT	0.682																																																	0													66	61	63					22																	19121821		2203	4299	6502	SO:0001583	missense	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"DiGeorge syndrome critical region gene 13"	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.1319G>A	22.37:g.19121821C>T	ENSP00000252137:p.Ser440Asn		Q49AH7|Q9BTZ4	Missense_Mutation	SNP	pfam_Nuclear_protein_DGCR14	p.S440N	ENST00000252137.6	37	c.1319	CCDS13756.1	22	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949342	0.34377	.	.	ENSG00000100056	ENST00000252137	T	0.24350	1.86	4.57	4.57	0.56435	.	0.410909	0.27469	N	0.019226	T	0.11024	0.0269	N	0.03608	-0.345	0.38272	D	0.942185	B	0.14438	0.01	B	0.15870	0.014	T	0.19976	-1.0289	10	0.17369	T	0.5	-7.3885	11.3407	0.49531	0.3053:0.6947:0.0:0.0	.	440	Q96DF8	DGC14_HUMAN	N	440	ENSP00000252137:S440N	ENSP00000252137:S440N	S	-	2	0	DGCR14	17501821	0.982000	0.34865	0.994000	0.49952	0.851000	0.48451	2.498000	0.45363	2.374000	0.81015	0.591000	0.81541	AGC	DGCR14	-	NULL	ENSG00000100056		0.682	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	-	0	156	0	C			19121821	-1	tier1	-	no_errors	ENST00000252137	ensembl	human	known	74_37	missense	7.73	178	15	SNP	0.993	T	T	19121821	C	T	19121821	3	4	69	1	0	0	0	0	1	0	0	0	4474	797	28	3	115	3	DGCR14	22	19121821	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	1894	19121821	32182745	260	18936											
IGLL1	3543	genome.wustl.edu	37	chr22	23917190	23917190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccgctgccaaacacatGcgtcactgagttatgcttgg	8	10	11	12	2	1	1	1	1	0	0	2	1	2	1	2	2	4	3	2	2	2	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr22:23917190G>T	ENST00000330377.2	-	2	403	c.286C>A	c.(286-288)Cat>Aat	p.H96N	IGLL1_ENST00000249053.3_Intron|AP000345.2_ENST00000458318.1_RNA|AP000345.2_ENST00000454863.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	96					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CCAAACACATGCGTCACTGAG	0.582																																																	0													73	64	67					22																	23917190		2203	4300	6503	SO:0001583	missense	0			X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.286C>A	22.37:g.23917190G>T	ENSP00000329312:p.His96Asn		Q0P681	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.H96N	ENST00000330377.2	37	c.286	CCDS13809.1	22	.	.	.	.	.	.	.	.	.	.	-	6.172	0.399887	0.11696	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.00912	6.85;5.55	1.58	-3.16	0.05217	.	2.456860	0.01694	N	0.026781	T	0.00906	0.0030	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.48581	-0.9023	10	0.52906	T	0.07	.	4.3566	0.11181	0.0:0.4626:0.3048:0.2325	.	96	P15814	IGLL1_HUMAN	N	96;97	ENSP00000329312:H96N;ENSP00000403391:H97N	ENSP00000329312:H96N	H	-	1	0	IGLL1	22247190	0.000000	0.05858	0.010000	0.14722	0.000000	0.00434	-1.404000	0.02494	-0.549000	0.06191	0.000000	0.15137	CAT	IGLL1	-	NULL	ENSG00000128322		0.582	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGLL1	HGNC	protein_coding	OTTHUMT00000319569.1	-	0	61	0	G	NM_020070		23917190	-1	tier1	-	no_errors	ENST00000330377	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.029	T	T	23917190	G	T	23917190	3	4	69	1	0	0	0	0	1	0	0	0	7620	1319	46	3	363	3	IGLL1	22	23917190	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	4795369	23917190	27387376	261	18937											
MTMR3	8897	genome.wustl.edu	37	chr22	30416172	30416172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaccagaggaccaaacGtggacagttctacagacatg	14	7	11	9	1	1	3	0	1	1	3	1	6	1	5	2	2	2	1	2	2	2	3	rs199966820	byFrequency	TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr22:30416172G>A	ENST00000401950.2	+	17	2866	c.2524G>A	c.(2524-2526)Gtg>Atg	p.V842M	CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.V706M|MTMR3_ENST00000406629.1_Missense_Mutation_p.V842M|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.V842M|MTMR3_ENST00000351488.3_Missense_Mutation_p.V842M	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	842					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AGGACCAAACGTGGACAGTTC	0.463													g|||	2	0.000399361	0.0015	0	5008	,	,		21993	0		0	False		,,,				2504	0																0								A	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	101	92	95		2524,2524,2524	-6.2	0	22		95	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	MTMR3	NM_021090.3,NM_153050.2,NM_153051.2	21,21,21	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign,benign,benign	842/1199,842/1171,842/1162	30416172	3,13003	2203	4300	6503	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2524G>A	22.37:g.30416172G>A	ENSP00000384651:p.Val842Met		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.V842M	ENST00000401950.2	37	c.2524	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	g	2.170	-0.390142	0.04932	2.27E-4	2.33E-4	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93712	-3.08;-3.06;-3.27;-3.11;-3.06	5.4	-6.24	0.02046	.	5.573390	0.00166	N	0.000000	T	0.80939	0.4720	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.18610	0.029;0.017;0.029	B;B;B	0.13407	0.009;0.004;0.009	T	0.74671	-0.3587	10	0.27785	T	0.31	.	5.0614	0.14559	0.5786:0.0966:0.2347:0.0902	.	842;842;842	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	M	842;842;706;842;842	ENSP00000384651:V842M;ENSP00000331649:V842M;ENSP00000318070:V706M;ENSP00000307271:V842M;ENSP00000384077:V842M	ENSP00000318070:V706M	V	+	1	0	MTMR3	28746172	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-0.034000	0.12225	-1.447000	0.01943	-0.954000	0.02651	GTG	MTMR3	-	NULL	ENSG00000100330		0.463	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0	54	0	G	NM_021090		30416172	1	tier1	rs199966820	no_errors	ENST00000401950	ensembl	human	known	74_37	missense	18.18	63	14	SNP	0.000	A	A	30416172	G	A	30416172	3	1	69	1	0	0	0	0	1	0	0	0	9983	1145	40	1	2582	1	MTMR3	22	30416172	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	6498982	30416172	20888394	262	18938											
EIF4ENIF1	56478	genome.wustl.edu	37	chr22	31859732	31859732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagtcccgcaggtccttatCgctaagacggtgatccttct	8	11	9	13	3	1	2	0	1	1	1	5	2	4	2	3	2	0	2	3	2	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr22:31859732C>T	ENST00000397525.1	-	5	743	c.520G>A	c.(520-522)Gat>Aat	p.D174N	RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.D174N|RP11-247I13.8_ENST00000439588.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.D174N	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	174	Arg-rich.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGTCCTTATCGCTAAGACGG	0.458																																																	0													78	76	76					22																	31859732		2203	4300	6503	SO:0001583	missense	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.520G>A	22.37:g.31859732C>T	ENSP00000380659:p.Asp174Asn		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.D174N	ENST00000397525.1	37	c.520	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771193	0.90108	.	.	ENSG00000184708	ENST00000397525;ENST00000330125;ENST00000397523;ENST00000420671;ENST00000423097	.	.	.	5.56	5.56	0.83823	.	0.309562	0.39407	N	0.001373	T	0.53367	0.1792	L	0.41824	1.3	0.80722	D	1	P	0.35844	0.524	B	0.39562	0.303	T	0.44065	-0.9352	9	0.18276	T	0.48	-7.0444	18.8921	0.92408	0.0:1.0:0.0:0.0	.	174	Q9NRA8	4ET_HUMAN	N	174	.	ENSP00000328103:D174N	D	-	1	0	EIF4ENIF1	30189732	0.997000	0.39634	0.994000	0.49952	0.996000	0.88848	4.855000	0.62925	2.792000	0.96026	0.557000	0.71058	GAT	EIF4ENIF1	-	pfam_eIF4E_transporter	ENSG00000184708		0.458	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	-	0	75	0	C	NM_019843		31859732	-1	tier1	-	no_errors	ENST00000330125	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	T	T	31859732	C	T	31859732	3	4	69	1	0	0	0	0	1	0	0	0	5051	884	31	1	2500	1	EIF4ENIF1	22	31859732	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	1443560	31859732	19444834	263	18939											
SCUBE1	80274	genome.wustl.edu	37	chr22	43606144	43606144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcgctttgggggaggcGcgatgtgccagacgcattca	6	9	15	11	4	1	1	1	0	0	1	2	3	2	2	2	3	2	2	2	3	0	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chr22:43606144G>A	ENST00000360835.4	-	19	2612	c.2486C>T	c.(2485-2487)gCg>gTg	p.A829V	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	829	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGGGGGAGGCGCGATGTGCCA	0.607																																																	0													102	86	92					22																	43606144		2203	4300	6503	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2486C>T	22.37:g.43606144G>A	ENSP00000354080:p.Ala829Val		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.A829V	ENST00000360835.4	37	c.2486	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099317	0.37048	.	.	ENSG00000159307	ENST00000360835;ENST00000381243	T	0.17691	2.26	3.63	2.51	0.30379	CUB (5);	0.161907	0.52532	D	0.000071	T	0.05181	0.0138	N	0.01640	-0.785	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.26395	-1.0104	10	0.32370	T	0.25	.	6.1192	0.20144	0.0:0.1471:0.4575:0.3954	.	829	Q8IWY4	SCUB1_HUMAN	V	829;459	ENSP00000354080:A829V	ENSP00000354080:A829V	A	-	2	0	SCUBE1	41936088	0.786000	0.28738	0.410000	0.26471	0.645000	0.38454	1.999000	0.40806	2.038000	0.60285	0.561000	0.74099	GCG	SCUBE1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000159307		0.607	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	-	0	57	0	G	NM_173050		43606144	-1	tier1	-	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	29.23	45	19	SNP	0.961	A	A	43606144	G	A	43606144	3	1	69	1	0	0	0	0	1	0	0	0	13989	1087	38	1	496	1	SCUBE1	22	43606144	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	11746412	43606144	7698422	264	18940											
SCML2	10389	genome.wustl.edu	37	chrX	18264857	18264857	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctacaggcaggattcaaAtaatttcctgaatttagtga	13	15	7	6	0	2	2	1	2	1	0	3	3	3	3	1	2	1	1	1	2	5	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:18264857A>C	ENST00000251900.4	-	13	1821	c.1662T>G	c.(1660-1662)taT>taG	p.Y554*	SCML2_ENST00000398048.3_Nonsense_Mutation_p.Y290*	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	554					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CAGGATTCAAATAATTTCCTG	0.433																																					Esophageal Squamous(100;1252 1965 19021 35517)												0													85	89	87					X																	18264857		2203	4300	6503	SO:0001587	stop_gained	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1662T>G	X.37:g.18264857A>C	ENSP00000251900:p.Tyr554*		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Nonsense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.Y554*	ENST00000251900.4	37	c.1662	CCDS14185.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.00|16.00	2.999634|2.999634	0.54147|0.54147	.|.	.|.	ENSG00000102098|ENSG00000102098	ENST00000420857|ENST00000251900;ENST00000398048;ENST00000442000	.|.	.|.	.|.	5.84|5.84	3.45|3.45	0.39498|0.39498	.|.	.|4.506400	.|0.00166	.|N	.|0.000006	T|.	0.19805|.	0.0476|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24119|.	-1.0169|.	3|.	.|0.12430	.|T	.|0.62	.|.	4.6728|4.6728	0.12698|0.12698	0.5808:0.1672:0.2521:0.0|0.5808:0.1672:0.2521:0.0	.|.	.|.	.|.	.|.	S|X	70|554;290;522	.|.	.|ENSP00000251900:Y554X	I|Y	-|-	2|3	0|2	SCML2|SCML2	18174778|18174778	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.637000|0.637000	0.24659|0.24659	0.316000|0.316000	0.23135|0.23135	-0.314000|-0.314000	0.08810|0.08810	ATT|TAT	SCML2	-	NULL	ENSG00000102098		0.433	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	-	0	32	0	A	NM_006089		18264857	-1	tier1	-	no_errors	ENST00000251900	ensembl	human	known	74_37	nonsense	35.29	44	24	SNP	0.000	C	C	18264857	A	C	18264857	4	2	69	1	0	0	0	0	0	1	0	0	13955	108	4	4	452	4	SCML2	23	18264857	Nonsense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09		18264857	137005703	265	18941											
MBTPS2	51360	genome.wustl.edu	37	chrX	21869646	21869646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttcctggtataaatttacCcgtcaatcaactgacctatt	11	14	6	10	1	2	1	2	1	0	0	3	1	3	1	3	2	2	2	3	2	7	7			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:21869646C>T	ENST00000379484.5	+	4	557	c.458C>T	c.(457-459)cCc>cTc	p.P153L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.P153L	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	153					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATAAATTTACCCGTCAATCAA	0.423																																																	0													196	173	181					X																	21869646		2203	4300	6503	SO:0001583	missense	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.458C>T	X.37:g.21869646C>T	ENSP00000368798:p.Pro153Leu		Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.P153L	ENST00000379484.5	37	c.458	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710628	0.89112	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.95554	-3.74;-2.53	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.97701	0.9246	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.988;0.984	D	0.98287	1.0511	10	0.62326	D	0.03	-22.5594	17.8193	0.88645	0.0:1.0:0.0:0.0	.	153;153;153	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	L	153	ENSP00000368798:P153L;ENSP00000368796:P153L	ENSP00000368796:P153L	P	+	2	0	MBTPS2	21779567	1.000000	0.71417	0.968000	0.41197	0.992000	0.81027	7.138000	0.77305	2.396000	0.81511	0.513000	0.50165	CCC	MBTPS2	-	prints_MBTPS2	ENSG00000012174		0.423	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	-	0	40	0	C			21869646	1	tier1	-	no_errors	ENST00000379484	ensembl	human	known	74_37	missense	30.56	50	22	SNP	1.000	T	T	21869646	C	T	21869646	3	4	69	1	0	0	0	0	1	0	0	0	9400	623	22	3	472	3	MBTPS2	23	21869646	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	3604789	21869646	133400914	266	18942											
FAM47A	158724	genome.wustl.edu	37	chrX	34149455	34149455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttgggaggctcctggCggagatgggacagtggagtc	7	8	19	7	1	1	1	0	0	1	1	3	6	2	4	1	6	0	1	1	6	0	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:34149455C>T	ENST00000346193.3	-	1	992	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	314										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCTGGCGGAGATGGGA	0.612																																																	0													19	22	21					X																	34149455		2192	4292	6484	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.941G>A	X.37:g.34149455C>T	ENSP00000345029:p.Arg314His		A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R314H	ENST00000346193.3	37	c.941	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	0.194	-1.050799	0.01981	.	.	ENSG00000185448	ENST00000346193	T	0.15834	2.39	0.15	-0.299	0.12808	.	.	.	.	.	T	0.08626	0.0214	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.08055	0.003	T	0.33599	-0.9862	8	0.40728	T	0.16	.	.	.	.	.	314	Q5JRC9	FA47A_HUMAN	H	314	ENSP00000345029:R314H	ENSP00000345029:R314H	R	-	2	0	FAM47A	34059376	0.923000	0.31300	0.001000	0.08648	0.001000	0.01503	0.581000	0.23819	-1.099000	0.03034	-1.097000	0.02148	CGC	FAM47A	-	NULL	ENSG00000185448		0.612	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0	98	0	C	NM_203408		34149455	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	missense	5.88	96	6	SNP	0.025	T	T	34149455	C	T	34149455	3	4	69	1	0	0	0	0	1	0	0	0	5591	768	27	1	1438	1	FAM47A	23	34149455	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	12279809	34149455	121121105	267	18943											
CHST7	56548	genome.wustl.edu	37	chrX	46433545	46433545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggagcctggaggcggCggcggccggcgaacgcgagc	6	3	21	11	7	0	0	0	0	0	0	0	4	0	2	2	7	3	0	2	7	1	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:46433545C>T	ENST00000276055.3	+	1	327	c.179C>T	c.(178-180)gCg>gTg	p.A60V		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	60					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						CTGGAGGCGGCGGCGGCCGGC	0.751																																																	0													3	3	3					X																	46433545		1478	2913	4391	SO:0001583	missense	0			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"Sulfotransferases, membrane-bound"	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.179C>T	X.37:g.46433545C>T	ENSP00000276055:p.Ala60Val		O75667	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.A60V	ENST00000276055.3	37	c.179	CCDS14268.1	X	.	.	.	.	.	.	.	.	.	.	c	22.4	4.285691	0.80803	.	.	ENSG00000147119	ENST00000276055	D	0.98090	-4.71	4.25	4.25	0.50352	.	0.000000	0.34178	N	0.004197	D	0.96614	0.8895	N	0.19112	0.55	0.30469	N	0.773497	D	0.76494	0.999	D	0.70716	0.97	D	0.93624	0.6950	10	0.27082	T	0.32	-23.7093	12.9133	0.58192	0.0:1.0:0.0:0.0	.	60	Q9NS84	CHST7_HUMAN	V	60	ENSP00000276055:A60V	ENSP00000276055:A60V	A	+	2	0	CHST7	46318489	0.999000	0.42202	1.000000	0.80357	0.946000	0.59487	0.741000	0.26202	2.093000	0.63338	0.509000	0.49947	GCG	CHST7	-	pirsf_Carbohydrate_sulfotransferase	ENSG00000147119		0.751	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST7	HGNC	protein_coding	OTTHUMT00000056362.1	-	0	33	0	C	NM_019886		46433545	1	tier1	-	no_errors	ENST00000276055	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T	T	46433545	C	T	46433545	3	4	69	1	0	0	0	0	1	0	0	0	3416	768	27	1	181	1	CHST7	23	46433545	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	12284090	46433545	108837015	268	18944											
RBM3	5935	genome.wustl.edu	37	chrX	48433656	48433656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccacttcagcagtttcGgacctatctctgagggtgag	10	10	11	10	1	2	3	1	2	1	1	4	4	2	4	2	2	1	2	2	2	2	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:48433656G>A	ENST00000376759.3	+	2	151	c.88G>A	c.(88-90)Gga>Aga	p.G30R	AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000430348.2_5'UTR|RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000354480.2_5'Flank|RBM3_ENST00000376755.1_Missense_Mutation_p.G30R	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	30	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CAGCAGTTTCGGACCTATCTC	0.498											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	52	59					X																	48433656		2203	4300	6503	SO:0001583	missense	0			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"RNA binding motif (RRM) containing"	9900	protein-coding gene	gene with protein product		300027	"RNA binding motif protein 3"			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.88G>A	X.37:g.48433656G>A	ENSP00000365950:p.Gly30Arg	954		Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G30R	ENST00000376759.3	37	c.88	CCDS14301.1	X	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953805	0.53293	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.47177	0.85;0.85	4.48	4.48	0.54585	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.56097	U	0.000033	T	0.69735	0.3144	H	0.94222	3.51	0.80722	D	1	D	0.59767	0.986	P	0.53549	0.729	T	0.79713	-0.1688	10	0.62326	D	0.03	-2.1885	13.7747	0.63046	0.0:0.0:1.0:0.0	.	30	P98179	RBM3_HUMAN	R	30	ENSP00000365950:G30R;ENSP00000365946:G30R	ENSP00000365946:G30R	G	+	1	0	RBM3	48318600	1.000000	0.71417	0.165000	0.22776	0.160000	0.22226	7.534000	0.82004	2.210000	0.71456	0.513000	0.50165	GGA	RBM3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000102317		0.498	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	HGNC	protein_coding	OTTHUMT00000060755.1		0	39	0	G	NM_006743		48433656	1			no_errors	ENST00000376755	ensembl	human	known	74_37	missense	9.26	49	5	SNP	0.840	A	A	48433656	G	A	48433656	3	1	69	1	0	0	0	0	1	0	0	0	13174	1117	39	1	90	1	RBM3	23	48433656	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	2000111	48433656	106836904	269	18945											
GRIPAP1	56850	genome.wustl.edu	37	chrX	48834841	48834841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgagagaaccagctccTcaaggcctgggtggtggagg	8	8	15	10	0	2	2	1	1	1	1	4	4	3	3	3	5	2	1	3	5	2	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:48834841T>C	ENST00000376441.1	-	22	1971	c.1937A>G	c.(1936-1938)gAg>gGg	p.E646G	GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E615G|GRIPAP1_ENST00000376423.4_Missense_Mutation_p.E567G|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E601G	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	646						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						AACCAGCTCCTCAAGGCCTGG	0.557																																																	0													35	28	31					X																	48834841		2203	4300	6503	SO:0001583	missense	0			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1937A>G	X.37:g.48834841T>C	ENSP00000365624:p.Glu646Gly		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E646G	ENST00000376441.1	37	c.1937	CCDS35248.1	X	.	.	.	.	.	.	.	.	.	.	T	20.2	3.943763	0.73672	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T	0.52057	0.68	3.33	3.33	0.38152	.	0.331825	0.23727	U	0.045170	T	0.61324	0.2338	M	0.64997	1.995	0.40583	D	0.981419	P;D;B	0.76494	0.821;0.999;0.0	P;D;B	0.75484	0.647;0.986;0.0	T	0.63589	-0.6603	10	0.66056	D	0.02	-5.3999	8.7443	0.34575	0.0:0.0:0.0:1.0	.	567;536;646	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	G	615;601;646;615;567	ENSP00000365608:E615G	ENSP00000365606:E567G	E	-	2	0	GRIPAP1	48719785	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	6.442000	0.73443	1.232000	0.43678	0.376000	0.23039	GAG	GRIPAP1	-	NULL	ENSG00000068400		0.557	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2		0	39	0	T	NM_207672		48834841	-1			no_errors	ENST00000376441	ensembl	human	known	74_37	missense	22.03	46	13	SNP	1.000	C	C	48834841	T	C	48834841	3	2	69	1	0	0	0	0	1	0	0	0	6816	1551	54	4	662	4	GRIPAP1	23	48834841	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	401185	48834841	106435719	270	18946											
MAGED1	9500	genome.wustl.edu	37	chrX	51644982	51644982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggtacagccagtgccaacTtcgctgccaactttggtgcc	7	10	11	13	1	0	0	0	0	0	0	1	0	0	0	4	2	7	2	4	2	3	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:51644982T>G	ENST00000375722.1	+	12	2545	c.2293T>G	c.(2293-2295)Ttc>Gtc	p.F765V	MAGED1_ENST00000326587.7_Missense_Mutation_p.F765V|MAGED1_ENST00000375772.3_Missense_Mutation_p.F765V|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.F821V			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	765					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CAGTGCCAACTTCGCTGCCAA	0.517										Multiple Myeloma(10;0.10)																																							0													86	74	78					X																	51644982		2203	4300	6503	SO:0001583	missense	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2293T>G	X.37:g.51644982T>G	ENSP00000364874:p.Phe765Val		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.F821V	ENST00000375722.1	37	c.2461	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	T	7.872	0.728291	0.15507	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.05199	3.58;3.58;3.58;3.48	3.72	3.72	0.42706	.	0.000000	0.45867	D	0.000326	T	0.06690	0.0171	N	0.08118	0	0.35941	D	0.833228	D;D	0.61080	0.989;0.967	D;P	0.70487	0.969;0.879	T	0.36890	-0.9729	10	0.06365	T	0.9	.	7.982	0.30190	0.0:0.0:0.0:1.0	.	821;765	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	V	765;765;765;821	ENSP00000364927:F765V;ENSP00000364874:F765V;ENSP00000325333:F765V;ENSP00000364847:F821V	ENSP00000325333:F765V	F	+	1	0	MAGED1	51661722	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	2.854000	0.48325	1.700000	0.51204	0.430000	0.28490	TTC	MAGED1	-	NULL	ENSG00000179222		0.517	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	-	0	24	0	T	NM_001005332		51644982	1	tier1	-	no_errors	ENST00000375695	ensembl	human	known	74_37	missense	25.00	36	12	SNP	0.998	G	G	51644982	T	G	51644982	3	3	69	1	0	0	0	0	1	0	0	0	9221	1609	56	4	2507	4	MAGED1	23	51644982	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	2810141	51644982	103625578	271	18947											
IQSEC2	23096	genome.wustl.edu	37	chrX	53349734	53349734	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctcccgcggtggccgCggccccacgcccaccgccgc	2	2	12	25	8	0	0	0	0	0	0	1	0	1	0	9	3	0	1	9	3	0	0			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:53349734C>T	ENST00000375368.5	-	1	788	c.588G>A	c.(586-588)ccG>ccA	p.P196P	IQSEC2_ENST00000396435.3_Silent_p.P196P			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	196					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCGGTGGCCGCGGCCCCACGC	0.791																																																	0													4	5	4					X																	53349734		644	1441	2085	SO:0001819	synonymous_variant	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.588G>A	X.37:g.53349734C>T			B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.P196	ENST00000375368.5	37	c.588		X																																																																																			IQSEC2	-	NULL	ENSG00000124313		0.791	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		-	0	16	0	C	XM_291345		53349734	-1	tier1	-	no_errors	ENST00000396435	ensembl	human	known	74_37	silent	35.29	11	6	SNP	0.993	T	T	53349734	C	T	53349734	2	4	69	1	0	0	0	0	0	0	0	1	7845	755	27	1		1	IQSEC2	23	53349734	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	1704752	53349734	101920826	272	18948											
HUWE1	10075	genome.wustl.edu	37	chrX	53602122	53602122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaaatcattaccctctccTtgggaggtcccagatgcgga	10	9	10	12	1	2	1	1	0	1	1	4	3	3	3	3	3	3	1	3	3	2	2			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:53602122T>A	ENST00000342160.3	-	45	6547	c.6090A>T	c.(6088-6090)caA>caT	p.Q2030H	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q2030H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2030					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACCCTCTCCTTGGGAGGTCC	0.438																																																	0													49	42	45					X																	53602122		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6090A>T	X.37:g.53602122T>A	ENSP00000340648:p.Gln2030His		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.Q2030H	ENST00000342160.3	37	c.6090	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.96|14.96	2.690628|2.690628	0.48097|0.48097	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.37752|.	1.18;1.18|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.524332|.	0.18710|.	N|.	0.133320|.	T|T	0.44180|0.44180	0.1281|0.1281	N|N	0.24115|0.24115	0.695|0.695	0.45415|0.45415	D|D	0.998395|0.998395	D;D|.	0.59767|.	0.976;0.986|.	P;P|.	0.59703|.	0.644;0.862|.	T|T	0.32903|0.32903	-0.9889|-0.9889	10|5	0.52906|.	T|.	0.07|.	.|.	11.1819|11.1819	0.48633|0.48633	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2030;2030|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	H|W	2030|1064	ENSP00000340648:Q2030H;ENSP00000262854:Q2030H|.	ENSP00000262854:Q2030H|.	Q|R	-|-	3|1	2|2	HUWE1|HUWE1	53618847|53618847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	1.308000|1.308000	0.33528|0.33528	1.619000|1.619000	0.50296|0.50296	0.486000|0.486000	0.48141|0.48141	CAA|AGG	HUWE1	-	NULL	ENSG00000086758		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	43	0	T	XM_497119		53602122	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	43.64	31	24	SNP	1.000	A	A	53602122	T	A	53602122	3	1	69	1	0	0	0	0	1	0	0	0	7488	1606	56	5	7190	5	HUWE1	23	53602122	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	252388	53602122	101668438	273	18949											
HEPH	9843	genome.wustl.edu	37	chrX	65413355	65413355	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacatcagtatctcagataAgtttttccagaagagctcca	14	12	6	9	0	2	3	2	0	1	3	5	3	4	3	2	0	2	3	2	0	4	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:65413355A>C	ENST00000343002.2	+	7	1908	c.1244A>C	c.(1243-1245)aAg>aCg	p.K415T	HEPH_ENST00000336279.5_Missense_Mutation_p.K148T|HEPH_ENST00000374727.3_Missense_Mutation_p.K418T|HEPH_ENST00000441993.2_Missense_Mutation_p.K418T|HEPH_ENST00000419594.1_Missense_Mutation_p.K418T|HEPH_ENST00000519389.1_Missense_Mutation_p.K469T			Q9BQS7	HEPH_HUMAN	hephaestin	415	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCTCAGATAAGTTTTTCCAG	0.383																																																	0													36	34	34					X																	65413355		2203	4300	6503	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1244A>C	X.37:g.65413355A>C	ENSP00000343939:p.Lys415Thr		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.K469T	ENST00000343002.2	37	c.1406		X	.	.	.	.	.	.	.	.	.	.	A	9.403	1.078567	0.20227	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	5.39	2.95	0.34219	Cupredoxin (2);	0.635577	0.16844	N	0.197239	D	0.94355	0.8185	N	0.17872	0.535	0.31408	N	0.675906	B;B;B	0.27559	0.001;0.181;0.003	B;B;B	0.29267	0.003;0.1;0.007	D	0.89920	0.4058	10	0.12103	T	0.63	.	5.8753	0.18826	0.7682:0.0:0.0826:0.1491	.	469;418;415	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	T	469;418;148;418;418;415;415	ENSP00000430620:K469T;ENSP00000363859:K418T;ENSP00000337418:K148T;ENSP00000411687:K418T;ENSP00000413211:K418T;ENSP00000343939:K415T;ENSP00000398078:K415T	ENSP00000337418:K148T	K	+	2	0	HEPH	65330080	0.991000	0.36638	0.973000	0.42090	0.733000	0.41908	0.622000	0.24433	0.210000	0.20664	0.481000	0.45027	AAG	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.383	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	0	45	0	A	NM_138737		65413355	1	tier1	-	no_errors	ENST00000519389	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	C	C	65413355	A	C	65413355	3	2	69	1	0	0	0	0	1	0	0	0	7081	72	3	4	1436	4	HEPH	23	65413355	Missense_Mutation	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	11811233	65413355	89857205	274	18950											
EDA2R	60401	genome.wustl.edu	37	chrX	65824292	65824293	+	Nonsense_Mutation	DNP	GT	GT	TA																															cagaggtgggggtctgcttcGtgcacgggatgcactcttgg																								rs186691097		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G|T	G|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:65824292_65824293GT>TA	ENST00000374719.3	-	4	378_379	c.322_323AC>TA	c.(322-324)ACg>TAg	p.T108*	EDA2R_ENST00000253392.5_Nonsense_Mutation_p.T108*|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000450752.1_Nonsense_Mutation_p.T108*|EDA2R_ENST00000396050.1_Nonsense_Mutation_p.T108*|EDA2R_ENST00000456230.2_Nonsense_Mutation_p.T108*	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	108					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GGTCTGCTTCGTGCACGGGATG	0.515																																																	0																																										SO:0001587	stop_gained	0			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"Tumor necrosis factor receptor superfamily"	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.322_323delinsTA	X.37:g.65824292_65824293delinsTA	ENSP00000363851:p.Thr108*		Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27	p.T108K|p.T108S	ENST00000374719.3	37	c.323|c.322	CCDS14386.1	X																																																																																			EDA2R	-	NULL	ENSG00000131080		0.515	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	HGNC	protein_coding	OTTHUMT00000057002.1	-	0	126	0	G|T	NM_021783		65824292|65824293	-1	tier1	-	no_errors	ENST00000253392	ensembl	human	known	74_37	missense	5.92|5.96	143|142	9	SNP	0.715|0.921	T|A	TA	65824293	GT	TA	65824292	4	4	69	1	0	0	0	0	0	1	0	0	4918	1145	40	2	582	2	EDA2R	23	65824292	Nonsense_Mutation	DNP	GT	TCGA-L5-A4OW-01A-11D-A28B-09	410937	65824292	89446268	275	18951											
STARD8	9754	genome.wustl.edu	37	chrX	67942429	67942429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgtgatgctgctgagCgcttcaagggctggatgagc	6	10	16	9	2	1	3	1	3	0	0	1	4	1	4	0	2	6	5	0	2	1	1	rs139291119		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:67942429C>T	ENST00000252336.6	+	11	2872	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	STARD8_ENST00000374597.3_Missense_Mutation_p.R834C|STARD8_ENST00000374599.3_Missense_Mutation_p.R914C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	834	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TGCTGCTGAGCGCTTCAAGGG	0.637																																																	0									CYS/ARG,CYS/ARG,CYS/ARG	0,3835		0,0,1632,571	57	49	52		2740,2500,2500	0.3	1	X	dbSNP_134	52	1,6727		0,1,2427,1872	no	missense,missense,missense	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	180,180,180	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging	914/1104,834/1024,834/1024	67942429	1,10562	2203	4300	6503	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19161	protein-coding gene	gene with protein product		300689	"START domain containing 8"			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2500C>T	X.37:g.67942429C>T	ENSP00000252336:p.Arg834Cys		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R914C	ENST00000252336.6	37	c.2740	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	c	18.07	3.540971	0.65085	0.0	1.49E-4	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.30182	1.54;1.54;1.54	4.36	0.348	0.16026	Lipid-binding START (3);START-like domain (1);	0.256282	0.29544	N	0.011854	T	0.42426	0.1202	L	0.59436	1.845	0.49582	D	0.999804	D;D	0.89917	0.998;1.0	D;D	0.77557	0.982;0.99	T	0.29305	-1.0016	10	0.87932	D	0	.	4.1279	0.10136	0.1629:0.5354:0.0:0.3017	.	914;834	Q92502-2;Q92502	.;STAR8_HUMAN	C	834;914;834	ENSP00000252336:R834C;ENSP00000363727:R914C;ENSP00000363725:R834C	ENSP00000252336:R834C	R	+	1	0	STARD8	67859154	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	1.762000	0.38451	0.027000	0.15297	0.509000	0.49947	CGC	STARD8	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	ENSG00000130052		0.637	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	-	0	79	0	C	NM_014725		67942429	1	tier1	rs139291119	no_errors	ENST00000374599	ensembl	human	known	74_37	missense	7.14	91	7	SNP	0.997	T	T	67942429	C	T	67942429	3	4	69	1	0	0	0	0	1	0	0	0	15310	768	27	1	2786	1	STARD8	23	67942429	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	2118137	67942429	87328131	276	18952											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961267	73961267	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctttagtggtgctatcTcatcaatgctttgctggatc	7	16	8	10	0	2	0	2	0	1	0	5	1	3	1	1	2	3	3	1	2	3	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:73961267T>A	ENST00000055682.6	-	3	3736	c.3125A>T	c.(3124-3126)gAg>gTg	p.E1042V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1042					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTGCTATCTCATCAATGCT	0.493																																																	0													83	77	79					X																	73961267		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3125A>T	X.37:g.73961267T>A	ENSP00000055682:p.Glu1042Val		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.E1042V	ENST00000055682.6	37	c.3125	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820554	0.71028	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.37235	1.21;1.21	5.48	5.48	0.80851	.	0.101427	0.64402	D	0.000003	T	0.52240	0.1722	L	0.47716	1.5	0.50039	D	0.999848	D	0.76494	0.999	D	0.67382	0.951	T	0.55062	-0.8199	10	0.87932	D	0	-15.6273	14.6114	0.68519	0.0:0.0:0.0:1.0	.	1042	Q5QGS0	K2022_HUMAN	V	1042	ENSP00000362567:E1042V;ENSP00000055682:E1042V	ENSP00000055682:E1042V	E	-	2	0	KIAA2022	73877992	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.144000	0.71762	1.830000	0.53286	0.486000	0.48141	GAG	KIAA2022	-	NULL	ENSG00000050030		0.493	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	48	0	T	NM_001008537		73961267	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	A	A	73961267	T	A	73961267	3	1	69	1	0	0	0	0	1	0	0	0	8296	1551	54	5	1433	5	KIAA2022	23	73961267	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	6018838	73961267	81309293	277	18953											
CYLC1	1538	genome.wustl.edu	37	chrX	83124910	83124910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacatatgataattccattCcaagtaagaatttagttaat	17	14	5	5	0	0	2	0	1	0	1	2	3	2	2	2	0	1	2	2	0	8	8	rs547571553		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:83124910C>T	ENST00000329312.4	+	2	92	c.55C>T	c.(55-57)Cca>Tca	p.P19S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	19					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAATTCCATTCCAAGTAAGAA	0.229																																																	0													9	9	9					X																	83124910		1925	3910	5835	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.55C>T	X.37:g.83124910C>T	ENSP00000331556:p.Pro19Ser		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.P19S	ENST00000329312.4	37	c.55	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	7.278	0.608532	0.14002	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.47177	0.85	4.85	0.867	0.19085	.	.	.	.	.	T	0.29061	0.0722	L	0.35644	1.08	0.09310	N	1	P;P	0.36392	0.551;0.551	B;B	0.31751	0.135;0.135	T	0.16660	-1.0395	9	0.10636	T	0.68	0.047	7.0333	0.24979	0.0:0.5632:0.0:0.4368	.	19;19	P35663;F5H4V5	CYLC1_HUMAN;.	S	19	ENSP00000331556:P19S	ENSP00000331556:P19S	P	+	1	0	CYLC1	83011566	0.032000	0.19561	0.057000	0.19452	0.526000	0.34562	-0.283000	0.08433	-0.087000	0.12528	0.513000	0.50165	CCA	CYLC1	-	NULL	ENSG00000183035		0.229	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	143	0	C	NM_021118		83124910	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	6.51	158	11	SNP	0.084	T	T	83124910	C	T	83124910	3	4	69	1	0	0	0	0	1	0	0	0	4150	855	30	3	61	3	CYLC1	23	83124910	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	9163643	83124910	72145650	278	18954											
PCDH11X	27328	genome.wustl.edu	37	chrX	91131912	91131912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaaggttgaagatggtGgctttcctcaaagatccagt	13	11	11	6	0	1	3	1	1	0	2	3	3	3	3	2	3	0	3	2	3	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:91131912G>T	ENST00000373094.1	+	2	1518	c.673G>T	c.(673-675)Ggc>Tgc	p.G225C	PCDH11X_ENST00000361724.1_Missense_Mutation_p.G225C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G225C|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G225C|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G225C|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G225C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G225C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G225C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G225C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	225	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGAAGATGGTGGCTTTCCTCA	0.408																																					NSCLC(38;925 1092 2571 38200 45895)												0													241	211	221					X																	91131912		2203	4300	6503	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.673G>T	X.37:g.91131912G>T	ENSP00000362186:p.Gly225Cys		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G225C	ENST00000373094.1	37	c.673	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087645	0.76642	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	4.63	4.63	0.57726	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71542	0.3352	H	0.98646	4.29	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.84408	0.0564	10	0.87932	D	0	.	15.613	0.76740	0.0:0.0:1.0:0.0	.	225;225;225;225;225;225;225;225	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	C	225	ENSP00000378746:G225C;ENSP00000362186:G225C;ENSP00000362189:G225C;ENSP00000355040:G225C;ENSP00000362180:G225C;ENSP00000423762:G225C;ENSP00000355105:G225C;ENSP00000384758:G225C;ENSP00000298274:G225C	ENSP00000298274:G225C	G	+	1	0	PCDH11X	91018568	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.507000	0.97996	1.870000	0.54199	0.544000	0.68410	GGC	PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000102290		0.408	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	83	0	G	NM_032969		91131912	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	6.00	94	6	SNP	1.000	T	T	91131912	G	T	91131912	3	4	69	1	0	0	0	0	1	0	0	0	11547	1348	47	3	679	3	PCDH11X	23	91131912	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	8007002	91131912	64138648	279	18955											
PLS3	5358	genome.wustl.edu	37	chrX	114863595	114863595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtatttgtgctctgggtgGaacttcagagttgtccagcg	7	13	14	7	1	2	1	1	0	1	1	3	2	3	2	1	3	3	3	1	3	2	4			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:114863595G>T	ENST00000420625.2	+	4	457	c.323G>T	c.(322-324)gGa>gTa	p.G108V	PLS3_ENST00000539310.1_Missense_Mutation_p.G63V|PLS3_ENST00000537301.1_Missense_Mutation_p.G86V|PLS3_ENST00000289290.3_Missense_Mutation_p.G63V|PLS3_ENST00000355899.3_Missense_Mutation_p.G108V	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	108					bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GCTCTGGGTGGAACTTCAGAG	0.383																																					Colon(160;1047 1864 8490 12969 29601)												0													129	114	119					X																	114863595		2203	4300	6503	SO:0001583	missense	0			L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"EF-hand domain containing"	9091	protein-coding gene	gene with protein product		300131	"plastin 3 (T isoform)"			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.323G>T	X.37:g.114863595G>T	ENSP00000398945:p.Gly108Val		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.G108V	ENST00000420625.2	37	c.323	CCDS14568.1	X	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622540	0.87460	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	T;D;T;T;T	0.84660	-0.63;-1.88;0.98;-0.63;0.98	4.86	4.86	0.63082	.	0.048580	0.85682	D	0.000000	D	0.92760	0.7698	M	0.86953	2.85	0.80722	D	1	D;D;P	0.69078	0.997;0.961;0.871	D;P;P	0.68765	0.96;0.653;0.548	D	0.94084	0.7347	10	0.87932	D	0	-1.4824	15.6626	0.77199	0.0:0.0:1.0:0.0	.	81;86;108	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	V	108;86;63;108;63	ENSP00000348163:G108V;ENSP00000445105:G86V;ENSP00000289290:G63V;ENSP00000398945:G108V;ENSP00000445339:G63V	ENSP00000289290:G63V	G	+	2	0	PLS3	114769851	1.000000	0.71417	0.995000	0.50966	0.852000	0.48524	9.657000	0.98554	2.256000	0.74724	0.594000	0.82650	GGA	PLS3	-	NULL	ENSG00000102024		0.383	PLS3-201	KNOWN	basic|CCDS	protein_coding	PLS3	HGNC	protein_coding	OTTHUMT00000057976.2	-	0	38	0	G			114863595	1	tier1	-	no_errors	ENST00000355899	ensembl	human	known	74_37	missense	25.93	40	14	SNP	1.000	T	T	114863595	G	T	114863595	3	4	69	1	0	0	0	0	1	0	0	0	12147	1174	41	3	333	3	PLS3	23	114863595	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	23731683	114863595	40406965	280	18956											
KIAA1210	57481	genome.wustl.edu	37	chrX	118222391	118222391	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcgctctgttttatagaAgtgcccactgaactggtggg	9	12	12	8	1	1	2	0	1	1	1	2	3	1	2	1	2	2	2	1	2	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:118222391A>C	ENST00000402510.2	-	11	2801	c.2802T>G	c.(2800-2802)acT>acG	p.T934T		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	934										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTTTTATAGAAGTGCCCACTG	0.493																																																	0													61	53	56					X																	118222391		1902	4111	6013	SO:0001819	synonymous_variant	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2802T>G	X.37:g.118222391A>C			B7ZCI8|Q5JPN4	Silent	SNP	NULL	p.T934	ENST00000402510.2	37	c.2802	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	A	4.063	0.009471	0.07912	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.56	-1.05	0.10036	.	.	.	.	.	T	0.28928	0.0718	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29212	-1.0019	4	.	.	.	.	6.4255	0.21768	0.3403:0.4965:0.0:0.1631	.	.	.	.	V	341	.	.	F	-	1	0	KIAA1210	118106419	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.838000	0.04372	-0.270000	0.09285	0.486000	0.48141	TTC	KIAA1210	-	NULL	ENSG00000250423		0.493	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	28	0	A	NM_020721		118222391	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	silent	42.86	20	15	SNP	0.000	C	C	118222391	A	C	118222391	2	2	69	1	0	0	0	0	0	0	0	1	8241	59	3	4		4	KIAA1210	23	118222391	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	3358796	118222391	37048169	281	18957											
KIAA1210	57481	genome.wustl.edu	37	chrX	118222580	118222580	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgtctgagaggcaggtcTtcctctgagctgctgcaatc	6	11	14	10	0	3	2	0	2	3	1	5	3	4	2	1	3	3	4	1	3	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:118222580T>C	ENST00000402510.2	-	11	2612	c.2613A>G	c.(2611-2613)gaA>gaG	p.E871E		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	871										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GAGGCAGGTCTTCCTCTGAGC	0.463																																																	0													49	47	48					X																	118222580		1943	4114	6057	SO:0001819	synonymous_variant	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.2613A>G	X.37:g.118222580T>C			B7ZCI8|Q5JPN4	Silent	SNP	NULL	p.E871	ENST00000402510.2	37	c.2613	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	T	3.058	-0.193970	0.06259	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.43	0.249	0.15531	.	.	.	.	.	T	0.21347	0.0514	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23154	-1.0196	4	.	.	.	.	2.5076	0.04649	0.208:0.2787:0.0:0.5133	.	.	.	.	G	278	.	.	R	-	1	2	KIAA1210	118106608	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.027000	0.12371	-0.054000	0.13266	-0.438000	0.05819	AGA	KIAA1210	-	NULL	ENSG00000250423		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	30	0	T	NM_020721		118222580	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	silent	20.41	39	10	SNP	0.000	C	C	118222580	T	C	118222580	2	2	69	1	0	0	0	0	0	0	0	1	8241	1606	56	4		4	KIAA1210	23	118222580	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	189	118222580	37047980	282	18958											
STAG2	10735	genome.wustl.edu	37	chrX	123176428	123176428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttcaggagttgtcaCagcagaaatgtttagacata	15	11	9	6	0	2	2	2	0	0	2	2	3	2	3	0	1	1	4	0	1	4	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:123176428C>A	ENST00000371160.1	+	7	685	c.395C>A	c.(394-396)aCa>aAa	p.T132K	STAG2_ENST00000371145.3_Missense_Mutation_p.T132K|STAG2_ENST00000354548.5_Missense_Mutation_p.T63K|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.T132K|STAG2_ENST00000218089.9_Missense_Mutation_p.T132K|STAG2_ENST00000371144.3_Missense_Mutation_p.T132K	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	132					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGAGTTGTCACAGCAGAAATG	0.313																																																	0													69	66	67					X																	123176428		2203	4300	6503	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.395C>A	X.37:g.123176428C>A	ENSP00000360202:p.Thr132Lys		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.T132K	ENST00000371160.1	37	c.395	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453554	0.63290	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	T;T;T;T;T;T;T	0.49139	1.8;0.79;1.41;1.4;1.4;1.8;1.4	5.44	4.55	0.56014	.	0.050015	0.85682	D	0.000000	T	0.46229	0.1382	L	0.56769	1.78	0.43187	D	0.995018	B;P	0.35226	0.234;0.491	B;B	0.35182	0.197;0.184	T	0.39440	-0.9614	10	0.34782	T	0.22	-12.738	15.488	0.75582	0.0:0.8647:0.1353:0.0	.	132;132	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	K	132;132;63;132;132;132;132;132;132;132	ENSP00000218089:T132K;ENSP00000397265:T132K;ENSP00000346555:T63K;ENSP00000360202:T132K;ENSP00000360199:T132K;ENSP00000360187:T132K;ENSP00000360186:T132K	ENSP00000218089:T132K	T	+	2	0	STAG2	123004109	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.110000	0.41873	1.162000	0.42619	0.522000	0.50473	ACA	STAG2	-	NULL	ENSG00000101972		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	-	0	75	0	C	NM_006603		123176428	1	tier1	-	no_errors	ENST00000218089	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	A	A	123176428	C	A	123176428	3	1	69	1	0	0	0	0	1	0	0	0	15290	478	17	3	413	3	STAG2	23	123176428	Missense_Mutation	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	4953848	123176428	32094132	283	18959											
SLC9A6	10479	genome.wustl.edu	37	chrX	135104757	135104757	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttaggttgctattttcTtgggaagagctgccaatatt	10	17	9	5	0	1	1	0	0	1	1	1	2	1	2	1	2	3	3	1	2	6	9			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:135104757T>C	ENST00000370698.3	+	11	1302	c.1267T>C	c.(1267-1269)Ttg>Ctg	p.L423L	SLC9A6_ENST00000370695.4_Silent_p.L455L|SLC9A6_ENST00000370701.1_Silent_p.L403L	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	423					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTATTTTCTTGGGAAGAGC	0.313																																																	0													93	82	86					X																	135104757		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"Solute carriers"	11079	protein-coding gene	gene with protein product		300231	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 6", "solute carrier family 9 (sodium/hydrogen exchanger), member 6"			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1267T>C	X.37:g.135104757T>C			A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L455	ENST00000370698.3	37	c.1363	CCDS14654.1	X																																																																																			SLC9A6	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000198689		0.313	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	-	0	39	0	T	NM_006359		135104757	1	tier1	-	no_errors	ENST00000370695	ensembl	human	known	74_37	silent	11.11	56	7	SNP	1.000	C	C	135104757	T	C	135104757	2	2	69	1	0	0	0	0	0	0	0	1	14763	1606	56	4		4	SLC9A6	23	135104757	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	11928329	135104757	20165803	284	18960											
SLITRK2	84631	genome.wustl.edu	37	chrX	144905711	144905711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgtcagatggaaccgtcTtgtcaatgaatcacaataca	14	11	7	9	1	4	2	3	1	1	1	4	3	4	3	1	1	2	0	1	1	5	3			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:144905711T>C	ENST00000370490.1	+	1	6023	c.1768T>C	c.(1768-1770)Ttg>Ctg	p.L590L	SLITRK2_ENST00000428560.2_Silent_p.L590L|SLITRK2_ENST00000413937.2_Silent_p.L590L|SLITRK2_ENST00000434188.2_Silent_p.L590L|SLITRK2_ENST00000447897.2_Silent_p.L590L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	590					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAACCGTCTTGTCAATGAA	0.468																																																	0													85	66	73					X																	144905711		2203	4300	6503	SO:0001819	synonymous_variant	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1768T>C	X.37:g.144905711T>C			A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L590	ENST00000370490.1	37	c.1768	CCDS14680.1	X																																																																																			SLITRK2	-	NULL	ENSG00000185985		0.468	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0	27	0	T	NM_032539		144905711	1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	silent	56.10	18	23	SNP	0.036	C	C	144905711	T	C	144905711	2	2	69	1	0	0	0	0	0	0	0	1	14788	1606	56	4		4	SLITRK2	23	144905711	Silent	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	9800954	144905711	10364849	285	18961											
FMR1NB	158521	genome.wustl.edu	37	chrX	147088344	147088344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccacgagcttcaaatgtTttgctccatttagagatggt	10	13	10	8	1	1	1	1	0	0	1	2	4	2	2	2	2	2	3	2	2	2	5			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:147088344T>C	ENST00000370467.3	+	3	594	c.520T>C	c.(520-522)Ttt>Ctt	p.F174L	5S_rRNA_ENST00000364415.1_RNA	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	174	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAAATGTTTTGCTCCATT	0.353																																																	0													167	139	149					X																	147088344		2203	4300	6503	SO:0001583	missense	0				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"cancer/testis antigen 37"					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.520T>C	X.37:g.147088344T>C	ENSP00000359498:p.Phe174Leu		D3DWT3	Missense_Mutation	SNP	superfamily_P_trefoil	p.F174L	ENST00000370467.3	37	c.520	CCDS14683.1	X	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833248	0.50951	.	.	ENSG00000176988	ENST00000370467	T	0.56776	0.44	5.32	4.12	0.48240	P-type trefoil (1);	0.935815	0.08845	N	0.885357	T	0.52917	0.1764	L	0.27053	0.805	0.09310	N	1	D	0.54207	0.965	P	0.55615	0.78	T	0.38286	-0.9668	10	0.59425	D	0.04	-6.7034	7.4036	0.26977	0.0:0.1022:0.0:0.8978	.	174	Q8N0W7	FMR1N_HUMAN	L	174	ENSP00000359498:F174L	ENSP00000359498:F174L	F	+	1	0	FMR1NB	146896036	0.190000	0.23276	0.001000	0.08648	0.004000	0.04260	2.373000	0.44266	0.637000	0.30526	0.446000	0.29264	TTT	FMR1NB	-	superfamily_P_trefoil	ENSG00000176988		0.353	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1NB	HGNC	protein_coding	OTTHUMT00000058667.1	-	0	68	0	T	NM_152578		147088344	1	tier1	-	no_errors	ENST00000370467	ensembl	human	known	74_37	missense	18.39	71	16	SNP	0.003	C	C	147088344	T	C	147088344	3	2	69	1	0	0	0	0	1	0	0	0	5983	1841	64	4	530	4	FMR1NB	23	147088344	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	2182633	147088344	8182216	286	18962											
PLXNB3	5365	genome.wustl.edu	37	chrX	153039000	153039000	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactgatccgtgtcaggggCaccggcctagacgtggtgca	7	7	15	12	4	1	2	1	1	0	1	2	3	2	2	3	4	1	2	3	4	1	1			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:153039000C>A	ENST00000361971.5	+	19	3225	c.3111C>A	c.(3109-3111)ggC>ggA	p.G1037G	PLXNB3_ENST00000538776.1_Silent_p.G690G|PLXNB3_ENST00000538966.1_Silent_p.G1060G|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Silent_p.G647G	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1037	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTCAGGGGCACCGGCCTAG	0.687																																																	0													23	23	23					X																	153039000		2187	4273	6460	SO:0001819	synonymous_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3111C>A	X.37:g.153039000C>A			B7Z3E6|F5H773|Q9HDA4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1060	ENST00000361971.5	37	c.3180	CCDS14729.1	X																																																																																			PLXNB3	-	superfamily_Ig_E-set,smart_IPT	ENSG00000198753		0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-	0	9	0	C			153039000	1	tier1	-	no_errors	ENST00000538966	ensembl	human	known	74_37	silent	63.16	7	12	SNP	0.913	A	A	153039000	C	A	153039000	2	1	69	1	0	0	0	0	0	0	0	1	12164	697	25	3		3	PLXNB3	23	153039000	Silent	SNP	C	TCGA-L5-A4OW-01A-11D-A28B-09	5950656	153039000	2231560	287	18963											
IRAK1	3654	genome.wustl.edu	37	chrX	153281953	153281953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgtactcctcgggcaGgtaggccagggtgccccgca	6	8	14	13	2	0	1	0	1	0	0	2	1	1	1	4	4	2	4	4	4	2	3	rs373743090		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:153281953G>C	ENST00000369980.3	-	9	1338	c.1171C>G	c.(1171-1173)Ctg>Gtg	p.L391V	IRAK1_ENST00000429936.2_Missense_Mutation_p.L417V|IRAK1_ENST00000393682.1_Missense_Mutation_p.L417V|IRAK1_ENST00000393687.2_Missense_Mutation_p.L391V|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000369974.2_Missense_Mutation_p.L391V	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCGGGCAGGTAGGCCAGG	0.657																																																	0								G	VAL/LEU,VAL/LEU,VAL/LEU	1,3834		0,1,1631,571	58	51	53		1171,1171,1171	3	1	X		53	0,6728		0,0,2428,1872	no	missense,missense,missense	IRAK1	NM_001025242.1,NM_001025243.1,NM_001569.3	32,32,32	0,1,4059,2443	CC,CG,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	391/683,391/634,391/713	153281953	1,10562	2203	4300	6503	SO:0001583	missense	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1171C>G	X.37:g.153281953G>C	ENSP00000358997:p.Leu391Val		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L391V	ENST00000369980.3	37	c.1171	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.43|15.43	2.831690|2.831690	0.50845|0.50845	2.61E-4|2.61E-4	0.0|0.0	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	T;D;D;T;T|.	0.93811|.	1.29;-3.29;-3.29;1.29;1.29|.	4.85|4.85	3.03|3.03	0.35002|0.35002	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.40144|.	N|.	0.001179|.	T|T	0.53722|0.53722	0.1814|0.1814	L|L	0.41027|0.41027	1.25|1.25	0.58432|0.58432	D|D	0.999993|0.999993	P;D;D|.	0.59357|.	0.897;0.985;0.981|.	B;P;P|.	0.60415|.	0.307;0.874;0.801|.	T|T	0.40553|0.40553	-0.9557|-0.9557	10|5	0.66056|.	D|.	0.02|.	-15.3078|-15.3078	10.431|10.431	0.44407|0.44407	0.1534:0.0:0.8466:0.0|0.1534:0.0:0.8466:0.0	.|.	391;391;391|.	P51617-4;P51617;P51617-2|.	.;IRAK1_HUMAN;.|.	V|R	391;391;417;391;417|161	ENSP00000358997:L391V;ENSP00000358991:L391V;ENSP00000377287:L417V;ENSP00000377291:L391V;ENSP00000392662:L417V|.	ENSP00000358991:L391V|.	L|P	-|-	1|2	2|0	IRAK1|IRAK1	152935147|152935147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.403000|0.403000	0.30841|0.30841	4.782000|4.782000	0.62396|0.62396	0.300000|0.300000	0.22699|0.22699	0.529000|0.529000	0.55759|0.55759	CTG|CCT	IRAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184216		0.657	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	-	0	92	0	G			153281953	-1	tier1	-	no_errors	ENST00000369980	ensembl	human	known	74_37	missense	50.35	71	72	SNP	1.000	C	C	153281953	G	C	153281953	3	2	69	1	0	0	0	0	1	0	0	0	7848	991	35	5	991	5	IRAK1	23	153281953	Missense_Mutation	SNP	G	TCGA-L5-A4OW-01A-11D-A28B-09	242953	153281953	1988607	288	18964											
DKC1	1736	genome.wustl.edu	37	chrX	154002914	154002914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcaagcagggccttcTggacaagcatgggaagccca	12	6	13	10	0	2	1	1	1	1	0	2	4	2	3	2	3	3	2	2	3	3	1	rs199422253		TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:154002914T>C	ENST00000369550.5	+	12	1403	c.1193T>C	c.(1192-1194)cTg>cCg	p.L398P	DKC1_ENST00000475966.1_3'UTR|SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	398					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGGCCTTCTGGACAAGCAT	0.537									Congenital Dyskeratosis																																								0													94	70	78					X																	154002914		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1193T>C	X.37:g.154002914T>C	ENSP00000358563:p.Leu398Pro		F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451	p.L398P	ENST00000369550.5	37	c.1193	CCDS14761.1	X	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007315	0.75046	.	.	ENSG00000130826	ENST00000369550	D	0.96491	-4.03	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99282	1.0896	10	0.87932	D	0	-15.6068	13.441	0.61112	0.0:0.0:0.0:1.0	.	398;398	A8MUT5;O60832	.;DKC1_HUMAN	P	398	ENSP00000358563:L398P	ENSP00000358563:L398P	L	+	2	0	DKC1	153656108	1.000000	0.71417	0.998000	0.56505	0.817000	0.46193	7.618000	0.83043	1.853000	0.53794	0.486000	0.48141	CTG	DKC1	-	NULL	ENSG00000130826		0.537	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	-	0	30	0	T	NM_001363		154002914	1	tier1	rs199422253	no_errors	ENST00000369550	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	C	C	154002914	T	C	154002914	3	2	69	1	0	0	0	0	1	0	0	0	4556	1580	55	4	1239	4	DKC1	23	154002914	Missense_Mutation	SNP	T	TCGA-L5-A4OW-01A-11D-A28B-09	720961	154002914	1267646	289	18965											
F8	2157	genome.wustl.edu	37	chrX	154158672	154158672	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagagttctttccatgAgtcctttgtatccaccttgc	7	16	7	11	0	2	2	1	1	1	1	5	3	5	2	4	0	1	2	4	0	1	6			TCGA-L5-A4OW-01A-11D-A28B-09	TCGA-L5-A4OW-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ee548b30-729e-4ee2-abd7-33e6661fa4bc	ca4efbd8-835c-4a24-b3f9-4a6e7b01995e	g.chrX:154158672A>T	ENST00000360256.4	-	14	3593	c.3393T>A	c.(3391-3393)acT>acA	p.T1131T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1131	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCTTTCCATGAGTCCTTTGTA	0.438																																																	0													64	64	64					X																	154158672		2203	4298	6501	SO:0001819	synonymous_variant	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3393T>A	X.37:g.154158672A>T			Q14286|Q5HY69	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.T1131	ENST00000360256.4	37	c.3393	CCDS35457.1	X																																																																																			F8	-	NULL	ENSG00000185010		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-	0	25	0	A			154158672	-1	tier1	-	no_errors	ENST00000360256	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.000	T	T	154158672	A	T	154158672	2	4	69	1	0	0	0	0	0	0	0	1	5366	291	11	5		5	F8	23	154158672	Silent	SNP	A	TCGA-L5-A4OW-01A-11D-A28B-09	155758	154158672	1111888	290	18966											
PRDM16	63976	genome.wustl.edu	37	chr1	3328688	3328688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagggcaagggcaagtccGccgagggccagcccaagttt	11	4	14	12	2	0	0	0	0	0	0	1	1	1	0	4	3	1	3	4	3	4	1	rs554385722		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:3328688G>T	ENST00000270722.5	+	9	1976	c.1927G>T	c.(1927-1929)Gcc>Tcc	p.A643S	PRDM16_ENST00000378398.3_Missense_Mutation_p.A644S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.A643S|PRDM16_ENST00000442529.2_Missense_Mutation_p.A643S|PRDM16_ENST00000511072.1_Missense_Mutation_p.A644S|PRDM16_ENST00000514189.1_Missense_Mutation_p.A644S|PRDM16_ENST00000441472.2_Missense_Mutation_p.A643S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	643					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGGCAAGTCCGCCGAGGGCCA	0.687			T	EVI1	"MDS, AML"																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													40	50	47					1																	3328688		2066	4173	6239	SO:0001583	missense	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1927G>T	1.37:g.3328688G>T	ENSP00000270722:p.Ala643Ser		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A643S	ENST00000270722.5	37	c.1927	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	0.483	-0.879118	0.02550	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05382	3.47;3.49;3.51;3.5;3.49;3.49;3.51;3.46;3.45	4.89	2.98	0.34508	.	0.870676	0.09629	N	0.776444	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.33583	0.003;0.327;0.095;0.418	B;B;B;B	0.28849	0.007;0.095;0.052;0.044	T	0.40831	-0.9542	10	0.23302	T	0.38	.	10.0167	0.42018	0.2393:0.0:0.7607:0.0	.	643;643;643;643	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	S	644;644;643;643;643;644;643;459;459;452	ENSP00000426975:A644S;ENSP00000367651:A644S;ENSP00000407968:A643S;ENSP00000405253:A643S;ENSP00000367643:A643S;ENSP00000421400:A644S;ENSP00000270722:A643S;ENSP00000422504:A459S;ENSP00000425796:A452S	ENSP00000270722:A643S	A	+	1	0	PRDM16	3318548	0.001000	0.12720	0.032000	0.17829	0.043000	0.13939	0.819000	0.27308	1.056000	0.40484	0.603000	0.83216	GCC	PRDM16	-	NULL	ENSG00000142611		0.687	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	-	0	99	0	G	NM_022114		3328688	1	tier1	-	no_errors	ENST00000270722	ensembl	human	known	74_37	missense	41.98	47	34	SNP	0.088	T	T	3328688	G	T	3328688	3	4	70	1	0	0	0	0	1	0	0	0	12499	1087	38	2	1961	2	PRDM16	1	3328688	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		3328688	245921933	1	18967											
CHD5	26038	genome.wustl.edu	37	chr1	6209422	6209422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctccccaccctgctggcAcacctcacagtaatcctggt	8	9	7	17	0	2	0	1	0	1	0	4	1	3	0	5	2	1	3	5	2	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:6209422A>G	ENST00000262450.3	-	8	1144	c.1045T>C	c.(1045-1047)Tgc>Cgc	p.C349R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCTGCTGGCACACCTCACAG	0.592																																																	0													127	90	103					1																	6209422		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1045T>C	1.37:g.6209422A>G	ENSP00000262450:p.Cys349Arg		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.C349R	ENST00000262450.3	37	c.1045	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003070	0.74932	.	.	ENSG00000116254	ENST00000262450	D	0.99907	-7.8	4.03	4.03	0.46877	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	U	0.000000	D	0.99937	0.9972	H	0.99182	4.46	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.96057	0.9036	10	0.87932	D	0	-24.0118	12.4529	0.55686	1.0:0.0:0.0:0.0	.	349	Q8TDI0	CHD5_HUMAN	R	349	ENSP00000262450:C349R	ENSP00000262450:C349R	C	-	1	0	CHD5	6132009	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.998000	0.93550	1.623000	0.50342	0.260000	0.18958	TGC	CHD5	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000116254		0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	-	0	80	0	A	NM_015557		6209422	-1	tier1	-	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	G	G	6209422	A	G	6209422	3	3	70	1	0	0	0	0	1	0	0	0	3335	159	6	4	4955	4	CHD5	1	6209422	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	2880734	6209422	243041199	2	18968											
PTCHD2	57540	genome.wustl.edu	37	chr1	11561653	11561653	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccaatcggagcgggCgacttcggcgtgagaccccg	8	4	14	15	6	0	1	0	1	0	1	2	4	0	2	4	3	2	0	4	3	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:11561653C>T	ENST00000294484.6	+	2	742	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PTCHD2_ENST00000389575.3_Nonsense_Mutation_p.R202*	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	202					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCGGAGCGGGCGACTTCGGCG	0.687																																																	0													11	15	14					1																	11561653		1961	4145	6106	SO:0001587	stop_gained	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.604C>T	1.37:g.11561653C>T	ENSP00000294484:p.Arg202*		Q5VTU9|Q9UJD6	Nonsense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.R202*	ENST00000294484.6	37	c.604	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074621	0.76415	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	.	.	.	5.53	2.42	0.29668	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4959	8.3801	0.32466	0.4459:0.4097:0.1444:0.0	.	.	.	.	X	202	.	ENSP00000294484:R202X	R	+	1	2	PTCHD2	11484240	0.064000	0.20934	0.094000	0.20943	0.305000	0.27757	0.810000	0.27183	0.674000	0.31244	-0.268000	0.10319	CGA	PTCHD2	-	NULL	ENSG00000204624		0.687	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2		0	16	0	C	XM_052561		11561653	1			no_errors	ENST00000294484	ensembl	human	known	74_37	nonsense	60.00	4	6	SNP	0.005	T	T	11561653	C	T	11561653	4	4	70	1	0	0	0	0	0	1	0	0	12775	760	27	1	606	1	PTCHD2	1	11561653	Nonsense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	5352231	11561653	237688968	3	18969											
ARID1A	8289	genome.wustl.edu	37	chr1	27106970	27106971	+	Frame_Shift_Ins	INS	-	-	C																															cagaagggcagtatcggcaaINScctcctgggcttcctagagg																								rs138280531		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:27106970_27106971insC	ENST00000324856.7	+	20	6952_6953	c.6581_6582insC	c.(6580-6585)aacctcfs	p.L2195fs	ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.L1812fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.L1978fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.L523fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2195					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGTATCGGCAACCTCCTGGGCT	0.629			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6583dupC	1.37:g.27106972_27106972dupC	ENSP00000320485:p.Leu2195fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L2195fs	ENST00000324856.7	37	c.6581_6582	CCDS285.1	1																																																																																			ARID1A	-	pfam_DUF3518,superfamily_ARM-type_fold	ENSG00000117713		0.629	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	42	0	-	NM_139135		27106971	1	tier1		no_errors	ENST00000324856	ensembl	human	known	74_37	frame_shift_ins	37.14	22	13	INS	1.000:1.000	C	C	27106971	-	C	27106970	7	5	70	1	0	1	1	0	0	0	0	0	913	43	2	0	6659	0	ARID1A	1	27106970	Frame_Shift_Ins	INS	-	TCGA-L5-A4OX-01A-21D-A28B-09	15545317	27106970	222143651	4	18970											
AHDC1	27245	genome.wustl.edu	37	chr1	27876274	27876274	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcggccagcttgtcCgcctgggtgcccatggtgag	5	10	14	12	2	0	1	0	1	0	0	2	1	1	1	4	3	2	2	4	3	0	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:27876274C>A	ENST00000247087.5	-	5	2949	c.2353G>T	c.(2353-2355)Gga>Tga	p.G785*	AHDC1_ENST00000374011.2_Nonsense_Mutation_p.G785*			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	785	Gly-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCAGCTTGTCCGCCTGGGTGC	0.682																																																	0													40	44	43					1																	27876274		2203	4299	6502	SO:0001587	stop_gained	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2353G>T	1.37:g.27876274C>A	ENSP00000247087:p.Gly785*		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Nonsense_Mutation	SNP	NULL	p.G785*	ENST00000247087.5	37	c.2353	CCDS30652.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.518661	0.99420	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	.	.	.	5.88	4.79	0.61399	.	0.358848	0.22495	N	0.059317	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.1139	7.8757	0.29592	0.0:0.7864:0.0:0.2136	.	.	.	.	X	785	.	ENSP00000247087:G785X	G	-	1	0	AHDC1	27748861	0.973000	0.33851	0.973000	0.42090	0.956000	0.61745	2.023000	0.41040	2.782000	0.95742	0.655000	0.94253	GGA	AHDC1	-	NULL	ENSG00000126705		0.682	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3	-	0	77	0	C			27876274	-1	tier1	-	no_errors	ENST00000247087	ensembl	human	known	74_37	nonsense	30.51	41	18	SNP	0.838	A	A	27876274	C	A	27876274	4	1	70	1	0	0	0	0	0	1	0	0	412	661	23	2	2462	2	AHDC1	1	27876274	Nonsense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	769304	27876274	221374347	5	18971											
PABPC4	8761	genome.wustl.edu	37	chr1	40029381	40029381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagcaacagcagcgcGtggcgctaagttctgcacag	11	5	13	12	3	1	0	0	0	1	0	1	0	1	0	0	1	7	7	0	1	2	2	rs141523814		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:40029381G>A	ENST00000372857.3	-	12	2317	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	PABPC4_ENST00000372856.3_Missense_Mutation_p.R496C|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.R525C|PABPC4_ENST00000372862.3_Missense_Mutation_p.R480C	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	509					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACAGCAGCGCGTGGCGCTAAG	0.562																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	52	58	56		1573,1486,1525	4.6	1	1	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PABPC4	NM_001135653.1,NM_001135654.1,NM_003819.3	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	525/661,496/632,509/645	40029381	1,13005	2203	4300	6503	SO:0001583	missense	0			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1525C>T	1.37:g.40029381G>A	ENSP00000361948:p.Arg509Cys		B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.R525C	ENST00000372857.3	37	c.1573	CCDS438.1	1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064282	0.55432	0.0	1.16E-4	ENSG00000090621	ENST00000372862;ENST00000372858;ENST00000372857;ENST00000372856	T;T;T;T	0.42900	0.96;2.44;2.46;2.37	5.58	4.62	0.57501	Polyadenylate-binding protein/Hyperplastic disc protein (1);	0.000000	0.85682	D	0.000000	T	0.49712	0.1573	L	0.56769	1.78	0.80722	D	1	D;D;P	0.56968	0.978;0.978;0.955	P;P;P	0.51999	0.512;0.687;0.608	T	0.42310	-0.9459	10	0.38643	T	0.18	.	14.2149	0.65786	0.0:0.0:0.7448:0.2552	.	509;496;525	Q13310;Q13310-2;Q4VC03	PABP4_HUMAN;.;.	C	480;525;509;496	ENSP00000361953:R480C;ENSP00000361949:R525C;ENSP00000361948:R509C;ENSP00000361947:R496C	ENSP00000361947:R496C	R	-	1	0	PABPC4	39801968	1.000000	0.71417	0.967000	0.41034	0.245000	0.25701	5.166000	0.64965	2.789000	0.95967	0.655000	0.94253	CGC	PABPC4	-	superfamily_PABP_HYD,tigrfam_PABP_1234	ENSG00000090621		0.562	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1	-	0	39	0	G	NM_001135653		40029381	-1	tier1	rs141523814	no_errors	ENST00000372858	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.998	A	A	40029381	G	A	40029381	3	1	70	1	0	0	0	0	1	0	0	0	11405	1145	40	1	425	1	PABPC4	1	40029381	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	12153107	40029381	209221240	6	18972											
BEND5	79656	genome.wustl.edu	37	chr1	49208310	49208310	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actaccttgccattgtctagGatatacttgtccatgacagg	10	13	8	10	0	1	1	0	1	1	0	2	2	2	2	3	2	3	0	3	2	4	7			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:49208310G>T	ENST00000371833.3	-	4	965	c.879C>A	c.(877-879)atC>atA	p.I293I	AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	293						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						CATTGTCTAGGATATACTTGT	0.478																																																	0													133	122	126					1																	49208310		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"BEN domain containing"	25668	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 165"	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.879C>A	1.37:g.49208310G>T			D3DQ27|Q96A62|Q9HAI3	Silent	SNP	pfam_BEN_domain	p.I293	ENST00000371833.3	37	c.879	CCDS552.2	1																																																																																			BEND5	-	NULL	ENSG00000162373		0.478	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	-	0	91	0	G	NM_024603		49208310	-1	tier1	-	no_errors	ENST00000371833	ensembl	human	known	74_37	silent	38.36	45	28	SNP	1.000	T	T	49208310	G	T	49208310	2	4	70	1	0	0	0	0	0	0	0	1	1402	1164	41	3		3	BEND5	1	49208310	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	9178929	49208310	200042311	7	18973											
WDR78	79819	genome.wustl.edu	37	chr1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccattgtgatagccaaCggctaaaaggttaggtgctc	10	11	12	8	1	0	1	0	1	0	0	1	1	0	1	2	3	4	3	2	3	5	4	rs375562160		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363																																																	0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104	103	103		1660	4.4	1	1		103	0,8600		0,0,4300	no	missense	WDR78	NM_024763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	554/849	67301382	1,13005	2203	4300	6503	SO:0001583	missense	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"WD repeat domain containing"	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1660G>A	1.37:g.67301382C>T	ENSP00000360065:p.Val554Ile		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V554I	ENST00000371026.3	37	c.1660	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	WDR78	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT	WDR78	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000152763		0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	-	0	44	0	C	NM_024763		67301382	-1	tier1	-	no_errors	ENST00000371026	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	67301382	C	T	67301382	3	4	70	1	0	0	0	0	1	0	0	0	17377	536	19	1	914	1	WDR78	1	67301382	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	18093072	67301382	181949239	8	18974											
CELSR2	1952	genome.wustl.edu	37	chr1	109807186	109807186	+	Frame_Shift_Del	DEL	C	C	-																															cctgacccttgtgactcaaaCccgtgtcctgctaacagcta																								rs74763583	byFrequency	TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:109807186delC	ENST00000271332.3	+	11	5461	c.5400delC	c.(5398-5400)aacfs	p.N1800fs		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1800	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGACTCAAACCCGTGTCCTG	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)												0													204	187	193					1																	109807186		2203	4300	6503	SO:0001589	frameshift_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5400delC	1.37:g.109807186delC	ENSP00000271332:p.Asn1800fs		Q5T2Y7|Q92566	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.P1801fs	ENST00000271332.3	37	c.5400	CCDS796.1	1																																																																																			CELSR2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000143126		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	27	0	C	NM_001408		109807186	1	tier1		no_errors	ENST00000271332	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	0.980	-	-	109807186	C	-	109807186	7	5	70	1	0	1	0	1	0	0	0	0	3229	506	18	0	5442	0	CELSR2	1	109807186	Frame_Shift_Del	DEL	C	TCGA-L5-A4OX-01A-21D-A28B-09	42505804	109807186	139443435	9	18975											
DENND2C	163259	genome.wustl.edu	37	chr1	115142017	115142017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggatataggtatgctGccaggtgaacggatacagtg	11	9	15	6	1	0	1	0	1	0	0	0	4	0	3	1	4	4	2	1	4	5	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:115142017G>T	ENST00000393274.1	-	16	2786	c.2161C>A	c.(2161-2163)Cag>Aag	p.Q721K	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.Q664K|DENND2C_ENST00000393277.1_Intron	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	721	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGTATGCTGCCAGGTGAAC	0.463																																																	0													160	130	140					1																	115142017		2203	4300	6503	SO:0001583	missense	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"DENN/MADD domain containing"	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.2161C>A	1.37:g.115142017G>T	ENSP00000376955:p.Gln721Lys		B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.Q721K	ENST00000393274.1	37	c.2161	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027783	0.93518	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540	T;T	0.13901	2.55;2.55	5.81	4.9	0.64082	DENN (3);	0.111108	0.64402	D	0.000006	T	0.39489	0.1080	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.987	T	0.57573	-0.7788	10	0.72032	D	0.01	.	14.9025	0.70689	0.0685:0.0:0.9315:0.0	.	721;664	Q68D51;Q68D51-3	DEN2C_HUMAN;.	K	664;721;721	ENSP00000376957:Q664K;ENSP00000376955:Q721K	ENSP00000358553:Q721K	Q	-	1	0	DENND2C	114943540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.337000	0.96545	1.486000	0.48398	0.644000	0.83932	CAG	DENND2C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000175984		0.463	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	-	0	66	0	G	NM_198459		115142017	-1	tier1	-	no_errors	ENST00000393274	ensembl	human	known	74_37	missense	21.67	47	13	SNP	1.000	T	T	115142017	G	T	115142017	3	4	70	1	0	0	0	0	1	0	0	0	4444	1328	46	3	649	3	DENND2C	1	115142017	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	5334831	115142017	134108604	10	18976											
TBX15	6913	genome.wustl.edu	37	chr1	119427940	119427940	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtagctctgcaaggcAgccatgttgcttcgggcaca	7	9	13	12	1	1	0	0	0	1	0	2	0	1	0	2	3	4	7	2	3	2	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:119427940A>G	ENST00000369429.3	-	8	1233	c.1224T>C	c.(1222-1224)gcT>gcC	p.A408A	TBX15_ENST00000207157.3_Silent_p.A302A			Q96SF7	TBX15_HUMAN	T-box 15	408					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCTGCAAGGCAGCCATGTTGC	0.537																																																	0													48	46	47					1																	119427940		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1224T>C	1.37:g.119427940A>G			Q08E76|Q5JT54|Q5T9S7	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A302	ENST00000369429.3	37	c.906		1																																																																																			TBX15	-	NULL	ENSG00000092607		0.537	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	HGNC	protein_coding	OTTHUMT00000034351.1	-	0	38	0	A	NM_152380		119427940	-1	tier1	-	no_errors	ENST00000207157	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.985	G	G	119427940	A	G	119427940	2	3	70	1	0	0	0	0	0	0	0	1	15699	175	7	4		4	TBX15	1	119427940	Silent	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	4285923	119427940	129822681	11	18977											
FLG2	388698	genome.wustl.edu	37	chr1	152328611	152328611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccatagccagatgattgacTtgagccagaaccatgttggc	11	9	11	10	0	0	5	0	3	0	2	0	5	0	5	4	1	3	1	4	1	2	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:152328611T>C	ENST00000388718.5	-	3	1723	c.1651A>G	c.(1651-1653)Agt>Ggt	p.S551G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	551	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGATTGACTTGAGCCAGAA	0.488																																																	0													276	279	278					1																	152328611		2203	4300	6503	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.1651A>G	1.37:g.152328611T>C	ENSP00000373370:p.Ser551Gly		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S551G	ENST00000388718.5	37	c.1651	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	4.438	0.081113	0.08533	.	.	ENSG00000143520	ENST00000388718	T	0.00902	5.56	3.82	-1.63	0.08345	.	.	.	.	.	T	0.00210	0.0006	N	0.21097	0.63	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.40421	-0.9564	9	0.02654	T	1	.	7.6341	0.28257	0.0:0.4919:0.0:0.5081	.	551	Q5D862	FILA2_HUMAN	G	551	ENSP00000373370:S551G	ENSP00000373370:S551G	S	-	1	0	FLG2	150595235	0.000000	0.05858	0.506000	0.27664	0.576000	0.36127	-1.492000	0.02300	-0.215000	0.10063	0.383000	0.25322	AGT	FLG2	-	NULL	ENSG00000143520		0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	151	0	T	NM_001014342		152328611	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	17.91	165	36	SNP	0.132	C	C	152328611	T	C	152328611	3	2	70	1	0	0	0	0	1	0	0	0	5945	1609	56	4	5528	4	FLG2	1	152328611	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	32900671	152328611	96922010	12	18978											
RHBG	57127	genome.wustl.edu	37	chr1	156347811	156347811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacttttgtgcgggggcCgtgctcatctcctttggtgc	2	14	14	11	2	2	1	1	1	1	0	3	1	2	1	2	3	3	2	2	3	0	3	rs76801898		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:156347811C>T	ENST00000368249.1	+	3	443	c.405C>T	c.(403-405)gcC>gcT	p.A135A	RHBG_ENST00000451864.2_Silent_p.A66A|RHBG_ENST00000255013.3_Silent_p.A66A|RHBG_ENST00000400992.2_Silent_p.A66A|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368246.2_Silent_p.A135A	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	135					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTGCGGGGGCCGTGCTCATCT	0.612																																																	0								C		0,4122		0,0,2061	65	68	67		405	-6.1	0.4	1	dbSNP_131	67	2,8414		0,2,4206	no	coding-synonymous	RHBG	NM_020407.3		0,2,6267	TT,TC,CC		0.0238,0.0,0.016		135/459	156347811	2,12536	2061	4208	6269	SO:0001819	synonymous_variant	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"Solute carriers"	14572	protein-coding gene	gene with protein product		607079	"Rhesus blood group, B glycoprotein"			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.405C>T	1.37:g.156347811C>T			A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.A135	ENST00000368249.1	37	c.405		1																																																																																			RHBG	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000132677		0.612	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	-	0	72	0	C	NM_001256395		156347811	1	tier1	-	no_errors	ENST00000368246	ensembl	human	known	74_37	silent	21.43	55	15	SNP	0.473	T	T	156347811	C	T	156347811	2	4	70	1	0	0	0	0	0	0	0	1	13369	639	23	1		1	RHBG	1	156347811	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	4019200	156347811	92902810	13	18979											
MEF2D	4209	genome.wustl.edu	37	chr1	156452378	156452378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcgcagtcacatagcaCgctcagctcatacgccttct	9	10	7	15	3	5	0	3	0	2	0	6	1	5	0	1	0	3	4	1	0	2	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:156452378C>T	ENST00000348159.4	-	3	589	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	MEF2D_ENST00000464356.2_Missense_Mutation_p.V37M|MEF2D_ENST00000340875.5_Missense_Mutation_p.V37M|MEF2D_ENST00000360595.3_Missense_Mutation_p.V37M|MEF2D_ENST00000368240.2_Missense_Mutation_p.V37M|Y_RNA_ENST00000383924.1_RNA|MEF2D_ENST00000353795.3_Missense_Mutation_p.V37M	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	37	MADS-box. {ECO:0000255|PROSITE- ProRule:PRU00251}.				adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCACATAGCACGCTCAGCTCA	0.542																																																	0													335	275	295					1																	156452378		2203	4300	6503	SO:0001583	missense	0			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"Myocyte enhancer factors"	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.109G>A	1.37:g.156452378C>T	ENSP00000271555:p.Val37Met		D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.V37M	ENST00000348159.4	37	c.109	CCDS1143.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088532	0.76756	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000541336;ENST00000454816	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	4.94	4.02	0.46733	Transcription factor, MADS-box (6);	0.000000	0.85682	D	0.000000	D	0.93713	0.7991	M	0.89095	3.005	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79784	0.975;0.993;0.985	D	0.94230	0.7475	10	0.87932	D	0	-14.5788	11.4351	0.50064	0.0:0.9109:0.0:0.0891	.	42;37;37	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	M	37	ENSP00000271555:V37M;ENSP00000343159:V37M;ENSP00000357223:V37M;ENSP00000344705:V37M;ENSP00000353803:V37M;ENSP00000388505:V37M	ENSP00000343159:V37M	V	-	1	0	MEF2D	154719002	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	6.081000	0.71309	2.298000	0.77334	0.555000	0.69702	GTG	MEF2D	-	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	ENSG00000116604		0.542	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	-	0	91	0	C	NM_005920		156452378	-1	tier1	-	no_errors	ENST00000348159	ensembl	human	known	74_37	missense	17.65	56	12	SNP	1.000	T	T	156452378	C	T	156452378	3	4	70	1	0	0	0	0	1	0	0	0	9496	536	19	1	1496	1	MEF2D	1	156452378	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	104567	156452378	92798243	14	18980											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576495	158576495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggcctggctgggggggaCcaggctatctcctatgtggg	4	10	17	10	0	2	0	0	0	2	0	3	1	2	1	3	7	0	2	3	7	2	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:158576495C>G	ENST00000361284.1	+	1	267	c.267C>G	c.(265-267)gaC>gaG	p.D89E		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGGGGGGACCAGGCTATCT	0.542																																																	0													183	190	188					1																	158576495		2203	4300	6503	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.267C>G	1.37:g.158576495C>G	ENSP00000354707:p.Asp89Glu		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D89E	ENST00000361284.1	37	c.267	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.828137	0.00584	.	.	ENSG00000198967	ENST00000361284	T	0.02916	4.11	5.36	-2.62	0.06152	GPCR, rhodopsin-like superfamily (1);	1.747910	0.03416	N	0.205631	T	0.00468	0.0015	N	0.17379	0.485	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48068	-0.9067	10	0.13470	T	0.59	.	0.0034	0.00000	0.2962:0.2036:0.2111:0.2891	.	89	Q8NGY1	O10Z1_HUMAN	E	89	ENSP00000354707:D89E	ENSP00000354707:D89E	D	+	3	2	OR10Z1	156843119	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	-0.559000	0.05971	-0.379000	0.07906	-0.136000	0.14681	GAC	OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.542	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	104	0	C	NM_001004478		158576495	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	48.33	62	58	SNP	0.000	G	G	158576495	C	G	158576495	3	3	70	1	0	0	0	0	1	0	0	0	10962	506	18	5	269	5	OR10Z1	1	158576495	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	2124117	158576495	90674126	15	18981											
COPA	1314	genome.wustl.edu	37	chr1	160305050	160305050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgatgaaaaaacgtggtGcgaatataatctaagtgccc	16	9	9	7	2	1	2	0	2	1	0	1	3	1	2	1	1	3	0	1	1	7	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:160305050G>A	ENST00000241704.7	-	4	520	c.291C>T	c.(289-291)cgC>cgT	p.R97R	COPA_ENST00000368069.3_Silent_p.R97R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	97					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAACGTGGTGCGAATATAAT	0.383																																																	0													61	55	57					1																	160305050		2203	4300	6503	SO:0001819	synonymous_variant	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.291C>T	1.37:g.160305050G>A			Q5T201|Q8IXZ9	Silent	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R97	ENST00000241704.7	37	c.291	CCDS1202.1	1																																																																																			COPA	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000122218		0.383	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0	24	0	G	NM_004371		160305050	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.966	A	A	160305050	G	A	160305050	2	1	70	1	0	0	0	0	0	0	0	1	3734	1306	46	3		3	COPA	1	160305050	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	1728555	160305050	88945571	16	18982											
PRRX1	5396	genome.wustl.edu	37	chr1	170699423	170699423	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcaaaaatagatcctCgtccctcccaagatgttgtt	11	13	5	12	1	1	2	1	0	0	2	5	2	4	2	3	0	0	2	3	0	4	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:170699423C>T	ENST00000239461.6	+	3	912				PRRX1_ENST00000367760.3_Missense_Mutation_p.S202L|PRRX1_ENST00000476867.2_Intron	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1						artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.S202*(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATAGATCCTCGTCCCTCCCA	0.483																																																	1	Substitution - Nonsense(1)	lung(1)											235	233	234					1																	170699423		2203	4300	6503	SO:0001627	intron_variant	0			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"Homeoboxes / PRD class"	9142	protein-coding gene	gene with protein product		167420	"paired mesoderm homeo box 1"	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.599+3881C>T	1.37:g.170699423C>T			B5BUM7|O60807	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S202L	ENST00000239461.6	37	c.605	CCDS1290.1	1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266118	0.59540	.	.	ENSG00000116132	ENST00000367760;ENST00000495280	D	0.90900	-2.75	5.67	5.67	0.87782	.	.	.	.	.	D	0.88127	0.6353	.	.	.	0.28635	N	0.907446	D	0.61697	0.99	D	0.66847	0.947	T	0.78874	-0.2032	8	0.07030	T	0.85	.	16.4923	0.84205	0.0:1.0:0.0:0.0	.	202	P54821-2	.	L	202;47	ENSP00000356734:S202L	ENSP00000239461:S202L	S	+	2	0	PRRX1	168966047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.094000	0.50227	2.677000	0.91161	0.655000	0.94253	TCG	PRRX1	-	NULL	ENSG00000116132		0.483	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRX1	HGNC	protein_coding	OTTHUMT00000085236.3	-	0	88	0	C	NM_006902		170699423	1	tier1	-	no_errors	ENST00000367760	ensembl	human	known	74_37	missense	7.37	88	7	SNP	1.000	T	T	170699423	C	T	170699423	1	4	70	0	1	0	0	0	0	0	0	0	12654	893	31	1		1	PRRX1	1	170699423	Intron	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	10394373	170699423	78551198	17	18983											
CACNA1E	777	genome.wustl.edu	37	chr1	181721357	181721357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccactgaaaaccatcaaGcgcttgcccaagctcaaggt	13	6	9	13	1	2	1	2	1	0	0	2	1	2	1	3	2	4	2	3	2	5	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:181721357G>C	ENST00000367573.2	+	27	3810	c.3810G>C	c.(3808-3810)aaG>aaC	p.K1270N	CACNA1E_ENST00000360108.3_Missense_Mutation_p.K1251N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.K1221N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.K877N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.K1202N|CACNA1E_ENST00000526775.1_Missense_Mutation_p.K1251N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.K1270N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1270					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAACCATCAAGCGCTTGCCCA	0.532																																																	0													119	119	119					1																	181721357		1930	4147	6077	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3810G>C	1.37:g.181721357G>C	ENSP00000356545:p.Lys1270Asn		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.K1270N	ENST00000367573.2	37	c.3810	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045580	0.75846	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	6.02	5.11	0.69529	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	L	0.31065	0.9	0.80722	D	1	B;D;D	0.89917	0.164;1.0;1.0	B;D;D	0.87578	0.309;0.998;0.996	D	0.98173	1.0453	10	0.87932	D	0	.	10.8198	0.46597	0.1443:0.0:0.8557:0.0	.	1251;1270;1270	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	N	1270;1251;1221;1202;877;1251;1270	ENSP00000356542:K1270N;ENSP00000434814:K1251N;ENSP00000350183:K1221N;ENSP00000351101:K1202N;ENSP00000356539:K877N;ENSP00000353222:K1251N;ENSP00000356545:K1270N	ENSP00000350183:K1221N	K	+	3	2	CACNA1E	179987980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.745000	0.47459	1.554000	0.49487	0.655000	0.94253	AAG	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.532	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2		0	45	0	G	NM_000721		181721357	1			no_errors	ENST00000367573	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	C	C	181721357	G	C	181721357	3	2	70	1	0	0	0	0	1	0	0	0	2549	962	34	5	3916	5	CACNA1E	1	181721357	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	11021934	181721357	67529264	18	18984											
OR2M5	127059	genome.wustl.edu	37	chr1	248308731	248308731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaagtccatttctatGgctggttgtgccacacaaat	10	11	10	10	0	1	0	0	0	1	0	2	0	2	0	2	3	2	4	2	3	3	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr1:248308731G>A	ENST00000366476.1	+	1	282	c.282G>A	c.(280-282)atG>atA	p.M94I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CCATTTCTATGGCTGGTTGTG	0.468																																																	0													310	304	306					1																	248308731		2203	4300	6503	SO:0001583	missense	0				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.282G>A	1.37:g.248308731G>A	ENSP00000355432:p.Met94Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M94I	ENST00000366476.1	37	c.282	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	g	8.866	0.948049	0.18356	.	.	ENSG00000162727	ENST00000366476	T	0.00380	7.64	3.28	-1.25	0.09405	GPCR, rhodopsin-like superfamily (1);	1.727540	0.04219	U	0.333209	T	0.00210	0.0006	N	0.16098	0.37	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.40421	-0.9564	10	0.62326	D	0.03	.	1.6991	0.02868	0.1157:0.1944:0.2367:0.4532	.	94	A3KFT3	OR2M5_HUMAN	I	94	ENSP00000355432:M94I	ENSP00000355432:M94I	M	+	3	0	OR2M5	246375354	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-1.782000	0.01772	0.034000	0.15491	0.492000	0.49549	ATG	OR2M5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000162727		0.468	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	-	0	159	0	G	NM_001004690		248308731	1	tier1	-	no_errors	ENST00000366476	ensembl	human	known	74_37	missense	51.14	107	112	SNP	0.000	A	A	248308731	G	A	248308731	3	1	70	1	0	0	0	0	1	0	0	0	11052	1348	47	3	284	3	OR2M5	1	248308731	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	66587374	248308731	941890	19	18985											
MYT1L	23040	genome.wustl.edu	37	chr2	1842952	1842952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagctgccgctgacgtGgcctgagccgtcgcatcctg	6	7	15	13	4	0	2	0	2	0	0	2	4	1	3	4	2	3	3	4	2	1	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:1842952G>T	ENST00000399161.2	-	21	3796	c.3049C>A	c.(3049-3051)Cac>Aac	p.H1017N	MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_Missense_Mutation_p.H13N|MYT1L_ENST00000428368.2_Missense_Mutation_p.H1015N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1017					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCGCTGACGTGGCCTGAGCCG	0.657																																																	0													23	28	26					2																	1842952		2044	4188	6232	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3049C>A	2.37:g.1842952G>T	ENSP00000382114:p.His1017Asn		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.H1017N	ENST00000399161.2	37	c.3049		2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989191	0.93106	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T	0.63255	-0.02;-0.03	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.82476	0.5045	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.87578	0.987;0.998;0.996	D	0.84843	0.0809	10	0.87932	D	0	-48.0615	19.5365	0.95255	0.0:0.0:1.0:0.0	.	13;1017;1015	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	N	1017;963;13;71;1015	ENSP00000382114:H1017N;ENSP00000396103:H1015N	ENSP00000295067:H963N	H	-	1	0	MYT1L	1821959	1.000000	0.71417	0.969000	0.41365	0.782000	0.44232	9.780000	0.99024	2.618000	0.88619	0.563000	0.77884	CAC	MYT1L	-	pfam_Znf_C2HC	ENSG00000186487		0.657	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	41	0	G	NM_015025		1842952	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	T	T	1842952	G	T	1842952	3	4	70	1	0	0	0	0	1	0	0	0	10145	1348	47	3	531	3	MYT1L	2	1842952	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		1842952	241356421	20	18986											
ANKRD36	375248	genome.wustl.edu	37	chr2	97866254	97866254	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaaaggatggagaaatatCtaggaaaggtaattttgcga	19	9	11	2	1	1	1	0	0	1	1	1	5	1	3	0	4	1	1	0	4	8	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:97866254C>G	ENST00000461153.2	+	46	3093	c.2849C>G	c.(2848-2850)tCt>tGt	p.S950C	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S950C			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	950										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGAGAAATATCTAGGAAAGGT	0.368																																																	0													106	111	110					2																	97866254		692	1591	2283	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2849C>G	2.37:g.97866254C>G	ENSP00000419530:p.Ser950Cys		B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S950C	ENST00000461153.2	37	c.2849	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	8.973	0.973361	0.18736	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.79653	-1.29;-1.29	0.85	-0.149	0.13420	.	.	.	.	.	T	0.73210	0.3558	L	0.29908	0.895	0.09310	N	1	D	0.62365	0.991	P	0.52710	0.707	T	0.61912	-0.6965	9	0.48119	T	0.1	.	3.1025	0.06330	0.0:0.6524:0.0:0.3476	.	950	A6QL64	AN36A_HUMAN	C	950;950;312	ENSP00000419530:S950C;ENSP00000391950:S950C	ENSP00000391950:S950C	S	+	2	0	ANKRD36	97229981	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.299000	0.08254	-0.068000	0.12953	0.162000	0.16502	TCT	ANKRD36	-	NULL	ENSG00000135976		0.368	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	319	0	C			97866254	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	missense	36.34	261	149	SNP	0.002	G	G	97866254	C	G	97866254	3	3	70	1	0	0	0	0	1	0	0	0	665	913	32	5	3031	5	ANKRD36	2	97866254	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	96023302	97866254	145333119	21	18987											
MAP4K4	9448	genome.wustl.edu	37	chr2	102503719	102503719	+	Intron	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagaaagaacccacactCtatggttggttgactggctt	11	12	10	8	0	1	3	0	1	1	2	1	3	1	3	1	3	1	4	1	3	4	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:102503719C>A	ENST00000347699.4	+	27	3336				MAP4K4_ENST00000324219.4_Intron|MAP4K4_ENST00000350878.4_Intron|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Missense_Mutation_p.S1038Y|MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000425019.1_Intron	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4						intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AACCCACACTCTATGGTTGGT	0.428																																																	0													117	108	111					2																	102503719		1889	4129	6018	SO:0001627	intron_variant	0			AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6866	protein-coding gene	gene with protein product	"HPK/GCK-like kinase", "hepatocyte progenitor kinase-like/germinal center kinase-like kinase"	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.3336+20C>A	2.37:g.102503719C>A			O75172|Q9NST7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.S1038Y	ENST00000347699.4	37	c.3113	CCDS56130.1	2	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410217	0.42715	.	.	ENSG00000071054	ENST00000350198	T	0.04862	3.54	5.08	3.13	0.36017	.	.	.	.	.	T	0.05456	0.0144	N	0.14661	0.345	0.80722	D	1	P;P	0.49447	0.924;0.924	P;P	0.44811	0.461;0.461	T	0.53830	-0.8383	8	.	.	.	.	14.4421	0.67325	0.0:0.7196:0.2804:0.0	.	1037;1038	O95819-4;G3XAA2	.;.	Y	1038	ENSP00000281111:S1038Y	.	S	+	2	0	MAP4K4	101870151	0.878000	0.30173	1.000000	0.80357	0.997000	0.91878	0.893000	0.28336	1.102000	0.41551	0.563000	0.77884	TCT	MAP4K4	-	pfam_Citron,smart_Citron	ENSG00000071054		0.428	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	MAP4K4	HGNC	protein_coding	OTTHUMT00000339839.1	-	0	88	0	C	NM_004834		102503719	1	tier1	-	no_errors	ENST00000350198	ensembl	human	known	74_37	missense	17.97	105	23	SNP	0.993	A	A	102503719	C	A	102503719	1	1	70	0	1	0	0	0	0	0	0	0	9300	913	32	3		3	MAP4K4	2	102503719	Intron	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	4637465	102503719	140695654	22	18988											
RGPD3	653489	genome.wustl.edu	37	chr2	107073461	107073461	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaggacttcctgggaaaAgttttgctgctctttccacc	7	14	9	11	0	1	0	0	0	1	0	3	2	3	2	3	2	3	4	3	2	2	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:107073461A>T	ENST00000409886.3	-	4	458	c.371T>A	c.(370-372)cTt>cAt	p.L124H	RGPD3_ENST00000304514.7_Missense_Mutation_p.L124H	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	124					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCTGGGAAAAGTTTTGCTGC	0.333																																																	0													137	122	126					2																	107073461		692	1591	2283	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.371T>A	2.37:g.107073461A>T	ENSP00000386588:p.Leu124His		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L124H	ENST00000409886.3	37	c.371	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	13.03	2.114445	0.37339	.	.	ENSG00000153165	ENST00000409886;ENST00000304514;ENST00000440524	T;T	0.49720	0.77;0.77	2.59	2.59	0.31030	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.63873	0.2548	M	0.72894	2.215	0.31333	N	0.684548	D	0.71674	0.998	D	0.83275	0.996	T	0.65344	-0.6191	9	0.87932	D	0	-16.4748	8.687	0.34243	1.0:0.0:0.0:0.0	.	124	A6NKT7	RGPD3_HUMAN	H	124;124;67	ENSP00000386588:L124H;ENSP00000303659:L124H	ENSP00000303659:L124H	L	-	2	0	RGPD3	106439893	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	3.992000	0.56980	1.181000	0.42912	0.156000	0.16432	CTT	RGPD3	-	NULL	ENSG00000153165		0.333	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0	288	0	A	XM_929931		107073461	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	19.27	351	84	SNP	1.000	T	T	107073461	A	T	107073461	3	4	70	1	0	0	0	0	1	0	0	0	13332	72	3	5	4985	5	RGPD3	2	107073461	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	4569742	107073461	136125912	23	18989											
IL1RN	3557	genome.wustl.edu	37	chr2	113890293	113890293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgcttcgccttcatcCgctcagacagtggccccacc	8	7	8	18	3	2	1	2	0	0	1	4	1	3	1	5	1	1	2	5	1	1	2	rs148520303	byFrequency	TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:113890293C>T	ENST00000409930.3	+	4	443	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	IL1RN_ENST00000259206.5_Missense_Mutation_p.R130C|IL1RN_ENST00000361779.3_Missense_Mutation_p.R93C|IL1RN_ENST00000409052.1_Missense_Mutation_p.R93C|IL1RN_ENST00000354115.2_Missense_Mutation_p.R109C	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	127					acute-phase response (GO:0006953)|carboxylic acid metabolic process (GO:0019752)|chronic inflammatory response to antigenic stimulus (GO:0002439)|female pregnancy (GO:0007565)|fever generation (GO:0001660)|immune response (GO:0006955)|insulin secretion (GO:0030073)|lipid metabolic process (GO:0006629)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of membrane potential (GO:0045837)|positive regulation of JUN kinase activity (GO:0043507)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	interleukin-1 receptor antagonist activity (GO:0005152)|interleukin-1 receptor binding (GO:0005149)|interleukin-1 Type I receptor antagonist activity (GO:0045352)|interleukin-1 Type II receptor antagonist activity (GO:0045353)|interleukin-1, Type I receptor binding (GO:0005150)|interleukin-1, Type II receptor binding (GO:0005151)			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Rilonacept(DB06372)	CGCCTTCATCCGCTCAGACAG	0.577									Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0								C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	92	89	90		325,388,379,277	3.8	1	2	dbSNP_134	90	0,8600		0,0,4300	no	missense,missense,missense,missense	IL1RN	NM_000577.4,NM_173841.2,NM_173842.2,NM_173843.2	180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	109/160,130/181,127/178,93/144	113890293	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Lichen Sclerosis, Familial	M55646	CCDS2113.1, CCDS2114.1, CCDS2115.1, CCDS46396.1	2q14.2	2014-09-17			ENSG00000136689	ENSG00000136689		"Interleukins and interleukin receptors", "Endogenous ligands"	6000	protein-coding gene	gene with protein product	"interleukin-1 receptor antagonist protein", "intracellular interleukin-1 receptor antagonist"	147679				1386337, 8432529	Standard	NM_000577		Approved	IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430	uc002tjb.3	P18510	OTTHUMG00000131341	ENST00000409930.3:c.379C>T	2.37:g.113890293C>T	ENSP00000387173:p.Arg127Cys		A8K4G1|Q14628|Q53SC2|Q7RTZ4|Q96GD6|Q9UPC0	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.R130C	ENST00000409930.3	37	c.388	CCDS46396.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005013	0.74932	2.27E-4	0.0	ENSG00000136689	ENST00000409052;ENST00000361779;ENST00000259206;ENST00000354115;ENST00000409930	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.8	3.85	0.44370	.	0.403092	0.25011	N	0.033831	T	0.43055	0.1230	M	0.81802	2.56	0.47994	D	0.999565	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	T	0.37549	-0.9701	10	0.66056	D	0.02	-13.83	5.9545	0.19265	0.2302:0.6735:0.0:0.0963	.	127;109;130	P18510;P18510-2;Q53SC2	IL1RA_HUMAN;.;.	C	93;93;130;109;127	ENSP00000387210:R93C;ENSP00000354816:R93C;ENSP00000259206:R130C;ENSP00000329072:R109C;ENSP00000387173:R127C	ENSP00000259206:R130C	R	+	1	0	IL1RN	113606764	0.753000	0.28349	0.997000	0.53966	0.908000	0.53690	0.644000	0.24766	1.472000	0.48140	0.655000	0.94253	CGC	IL1RN	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	ENSG00000136689		0.577	IL1RN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL1RN	HGNC	protein_coding	OTTHUMT00000330802.1	-	0	56	0	C	NM_173841		113890293	1	tier1	rs148520303	no_errors	ENST00000259206	ensembl	human	known	74_37	missense	22.67	58	17	SNP	0.993	T	T	113890293	C	T	113890293	3	4	70	1	0	0	0	0	1	0	0	0	7692	652	23	1	474	1	IL1RN	2	113890293	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	6816832	113890293	129309080	24	18990											
SCN3A	6328	genome.wustl.edu	37	chr2	165948863	165948863	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcacaaattctccagTgaacagaacaatgaacacta	17	8	5	11	0	2	3	1	2	1	1	3	3	2	3	1	0	4	1	1	0	6	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:165948863T>G	ENST00000360093.3	-	27	5199	c.4708A>C	c.(4708-4710)Act>Cct	p.T1570P	SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Missense_Mutation_p.T1570P|SCN3A_ENST00000409101.3_Missense_Mutation_p.T1521P|SCN3A_ENST00000540861.1_Missense_Mutation_p.T53P|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1570					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATTCTCCAGTGAACAGAACA	0.468																																																	0													162	133	143					2																	165948863		2203	4300	6503	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4708A>C	2.37:g.165948863T>G	ENSP00000353206:p.Thr1570Pro		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.T1570P	ENST00000360093.3	37	c.4708		2	.	.	.	.	.	.	.	.	.	.	T	27.2	4.811735	0.90707	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.996;0.997;0.975	D	0.97567	1.0102	10	0.87932	D	0	.	16.4053	0.83662	0.0:0.0:0.0:1.0	.	1521;1521;1570	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	P	1570;1570;1521;53	ENSP00000353206:T1570P;ENSP00000283254:T1570P;ENSP00000386726:T1521P;ENSP00000439920:T53P	ENSP00000283254:T1570P	T	-	1	0	SCN3A	165657109	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.997000	0.88414	2.333000	0.79357	0.482000	0.46254	ACT	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.468	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	82	0	T	NM_006922		165948863	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	34.91	69	37	SNP	1.000	G	G	165948863	T	G	165948863	3	3	70	1	0	0	0	0	1	0	0	0	13963	1696	59	4	1302	4	SCN3A	2	165948863	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	52058570	165948863	77250510	25	18991											
TTN	7273	genome.wustl.edu	37	chr2	179411395	179411395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattacgcctgctgcattcTtggctaacacacggaactca	11	11	7	12	2	2	0	1	0	1	0	2	1	2	1	1	2	5	3	1	2	4	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:179411395T>C	ENST00000591111.1	-	291	90061	c.89837A>G	c.(89836-89838)aAg>aGg	p.K29946R	TTN_ENST00000460472.2_Missense_Mutation_p.K22522R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K22647R|TTN_ENST00000342175.6_Missense_Mutation_p.K22714R|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K29019R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K31587R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29946	Fibronectin type-III 118. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTGCATTCTTGGCTAACAC	0.453																																																	0													76	73	74					2																	179411395		1976	4172	6148	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89837A>G	2.37:g.179411395T>C	ENSP00000465570:p.Lys29946Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K29019R	ENST00000591111.1	37	c.87056		2	.	.	.	.	.	.	.	.	.	.	T	17.78	3.472475	0.63737	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42720	0.1215	N	0.20610	0.595	0.46458	D	0.999054	B;B;B;B	0.25235	0.121;0.121;0.121;0.121	B;B;B;B	0.26416	0.069;0.069;0.069;0.069	T	0.37337	-0.9710	9	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	22522;22647;22714;29946	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	29019;22522;22714;22647;22519	ENSP00000343764:K29019R;ENSP00000434586:K22522R;ENSP00000340554:K22714R;ENSP00000352154:K22647R	ENSP00000340554:K22714R	K	-	2	0	TTN	179119641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.909000	0.63314	2.302000	0.77476	0.533000	0.62120	AAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	29	0	T	NM_133378		179411395	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	C	C	179411395	T	C	179411395	3	2	70	1	0	0	0	0	1	0	0	0	16784	1609	56	4	13307	4	TTN	2	179411395	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	13462532	179411395	63787978	26	18992											
TTN	7273	genome.wustl.edu	37	chr2	179486721	179486721	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaatttcagcaccatcTttaaaccacttaacctatat	13	17	1	10	0	2	0	1	0	1	0	2	0	2	0	3	0	3	1	3	0	6	9			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:179486721T>G	ENST00000591111.1	-	194	40229	c.40005A>C	c.(40003-40005)aaA>aaC	p.K13335N	TTN_ENST00000460472.2_Missense_Mutation_p.K5911N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K6036N|TTN_ENST00000342175.6_Missense_Mutation_p.K6103N|TTN_ENST00000342992.6_Missense_Mutation_p.K12408N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K14976N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13335	Ig-like 89.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCACCATCTTTAAACCACT	0.348																																																	0													118	103	108					2																	179486721		1843	4084	5927	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40005A>C	2.37:g.179486721T>G	ENSP00000465570:p.Lys13335Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K12408N	ENST00000591111.1	37	c.37224		2	.	.	.	.	.	.	.	.	.	.	T	11.44	1.640695	0.29157	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	6.06	4.9	0.64082	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64182	0.2575	H	0.94698	3.57	0.42570	D	0.99317	B;B;B;B	0.31459	0.324;0.324;0.324;0.117	B;B;B;B	0.35813	0.211;0.211;0.211;0.211	T	0.67971	-0.5532	9	0.87932	D	0	.	7.3903	0.26905	0.1298:0.0734:0.0:0.7968	.	5911;6036;6103;13335	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	12408;5911;6103;6036;5911	ENSP00000343764:K12408N;ENSP00000434586:K5911N;ENSP00000340554:K6103N;ENSP00000352154:K6036N	ENSP00000340554:K6103N	K	-	3	2	TTN	179194966	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.469000	0.22067	1.086000	0.41228	0.528000	0.53228	AAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	73	0	T	NM_133378		179486721	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	G	G	179486721	T	G	179486721	3	3	70	1	0	0	0	0	1	0	0	0	16784	1606	56	4	63241	4	TTN	2	179486721	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	75326	179486721	63712652	27	18993											
ZNF804A	91752	genome.wustl.edu	37	chr2	185800768	185800768	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacacaaaatcggcttttcTtttgcatttccaaagaaagc	14	12	6	9	1	1	2	0	0	1	2	3	2	2	2	1	1	2	2	1	1	4	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:185800768T>G	ENST00000302277.6	+	4	1239	c.645T>G	c.(643-645)tcT>tcG	p.S215S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	215							metal ion binding (GO:0046872)	p.S215S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCGGCTTTTCTTTTGCATTTC	0.433																																																	1	Substitution - coding silent(1)	large_intestine(1)											66	67	66					2																	185800768		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.645T>G	2.37:g.185800768T>G			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.S215	ENST00000302277.6	37	c.645	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.433	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	35	0	T	NM_194250		185800768	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	silent	38.18	34	21	SNP	0.998	G	G	185800768	T	G	185800768	2	3	70	1	0	0	0	0	0	0	0	1	18218	1596	56	4		4	ZNF804A	2	185800768	Silent	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	6314047	185800768	57398605	28	18994											
PLCL1	5334	genome.wustl.edu	37	chr2	198949120	198949120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccagaagagcaaggaaaaActaaccacccgcgtgaccga	17	3	9	12	3	0	3	0	1	0	2	1	5	1	4	4	1	3	1	4	1	5	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:198949120A>C	ENST00000428675.1	+	2	1277	c.879A>C	c.(877-879)aaA>aaC	p.K293N	PLCL1_ENST00000437704.2_Missense_Mutation_p.K195N	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	293					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GCAAGGAAAAACTAACCACCC	0.393																																																	0													102	104	104					2																	198949120		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"phospholipase C related, but catalytically inactive protein", "protein phosphatase 1, regulatory subunit 127"	600597	"phospholipase C, epsilon"	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.879A>C	2.37:g.198949120A>C	ENSP00000402861:p.Lys293Asn		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K293N	ENST00000428675.1	37	c.879	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.251734	0.22880	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.17691	2.26;2.27	6.04	2.3	0.28687	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.10680	0.0261	L	0.34521	1.04	0.47407	D	0.999411	B;B	0.29716	0.255;0.255	B;B	0.23419	0.046;0.046	T	0.19877	-1.0292	9	.	.	.	.	8.5487	0.33438	0.7008:0.0:0.2992:0.0	.	293;219	Q15111;B4DYZ4	PLCL1_HUMAN;.	N	293;195	ENSP00000402861:K293N;ENSP00000414138:K195N	.	K	+	3	2	PLCL1	198657365	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	1.525000	0.35953	0.478000	0.27488	0.459000	0.35465	AAA	PLCL1	-	NULL	ENSG00000115896		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0	24	0	A	NM_006226		198949120	1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	44.00	14	11	SNP	1.000	C	C	198949120	A	C	198949120	3	2	70	1	0	0	0	0	1	0	0	0	12078	40	2	4	885	4	PLCL1	2	198949120	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	13148352	198949120	44250253	29	18995											
SPEG	10290	genome.wustl.edu	37	chr2	220315877	220315877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcttcggatgactcctaCgtgtccgctggagaagagcc	8	9	13	11	3	1	3	0	1	1	2	4	6	3	4	3	2	2	1	3	2	2	2	rs371768029		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr2:220315877C>T	ENST00000312358.7	+	5	2265	c.2133C>T	c.(2131-2133)taC>taT	p.Y711Y	SPEG_ENST00000396698.1_Silent_p.Y607Y|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	711					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ATGACTCCTACGTGTCCGCTG	0.597																																																	0								C		0,3940		0,0,1970	109	111	111		2133	-0.9	1	2		111	1,8283		0,1,4141	no	coding-synonymous	SPEG	NM_005876.4		0,1,6111	TT,TC,CC		0.0121,0.0,0.0082		711/3268	220315877	1,12223	1970	4142	6112	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2133C>T	2.37:g.220315877C>T			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y711	ENST00000312358.7	37	c.2133	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.597	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0	75	0	C	NM_005876		220315877	1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	silent	28.79	47	19	SNP	0.991	T	T	220315877	C	T	220315877	2	4	70	1	0	0	0	0	0	0	0	1	15083	547	19	1		1	SPEG	2	220315877	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	21366757	220315877	22883496	30	18996											
ITPR1	3708	genome.wustl.edu	37	chr3	4712575	4712575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcaggatgctaaagaaggGcagaaggaggaccgagacgt	14	4	16	7	2	1	3	1	0	0	3	1	7	1	6	1	4	1	3	1	4	4	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:4712575G>A	ENST00000443694.2	+	17	2124	c.2124G>A	c.(2122-2124)ggG>ggA	p.G708G	ITPR1_ENST00000456211.2_Silent_p.G708G|ITPR1_ENST00000423119.2_Silent_p.G723G|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.G723G|ITPR1_ENST00000302640.8_Silent_p.G708G|ITPR1_ENST00000357086.4_Silent_p.G723G			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	723					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTAAAGAAGGGCAGAAGGAGG	0.532																																																	0													75	76	76					3																	4712575		2034	4190	6224	SO:0001819	synonymous_variant	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2124G>A	3.37:g.4712575G>A			E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.G708	ENST00000443694.2	37	c.2124	CCDS54551.1	3																																																																																			ITPR1	-	NULL	ENSG00000150995		0.532	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0	78	0	G	NM_002222		4712575	1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	silent	13.11	53	8	SNP	0.441	A	A	4712575	G	A	4712575	2	1	70	1	0	0	0	0	0	0	0	1	7947	1190	42	3		3	ITPR1	3	4712575	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		4712575	193309855	31	18997											
ATP2B2	491	genome.wustl.edu	37	chr3	10442672	10442672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccttgtccacggacttgCgcacctggtcagactctcca	6	10	10	15	2	2	1	1	0	1	1	5	2	4	2	4	3	1	1	4	3	0	2	rs200591536		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:10442672C>T	ENST00000352432.4	-	4	815	c.746G>A	c.(745-747)cGc>cAc	p.R249H	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R249H|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R249H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R249H|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R249H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	249					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CACGGACTTGCGCACCTGGTC	0.597																																					Ovarian(125;1619 1709 15675 19819 38835)												0													147	120	129					3																	10442672		2203	4300	6503	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.746G>A	3.37:g.10442672C>T	ENSP00000324172:p.Arg249His		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.R249H	ENST00000352432.4	37	c.746	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.124649	0.94429	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.6	5.6	0.85130	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.055309	0.64402	D	0.000002	D	0.92309	0.7560	L	0.31157	0.91	0.58432	D	0.999998	D;P;D	0.61697	0.98;0.497;0.99	P;B;D	0.64321	0.765;0.104;0.924	D	0.93200	0.6591	10	0.87932	D	0	-20.274	19.6187	0.95647	0.0:1.0:0.0:0.0	.	249;261;249	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	H	249;249;249;249;249;215;136;249	ENSP00000324172:R249H;ENSP00000373311:R249H;ENSP00000380267:R249H;ENSP00000353414:R249H;ENSP00000344677:R249H;ENSP00000414854:R136H	ENSP00000342954:R249H	R	-	2	0	ATP2B2	10417672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.088000	0.41663	2.627000	0.88993	0.650000	0.86243	CGC	ATP2B2	-	pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000157087		0.597	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0	108	0	C	NM_001683		10442672	-1	tier1	rs200591536	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	31.19	75	34	SNP	1.000	T	T	10442672	C	T	10442672	3	4	70	1	0	0	0	0	1	0	0	0	1141	768	27	1	3061	1	ATP2B2	3	10442672	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	5730097	10442672	187579758	32	18998											
SLC6A11	6538	genome.wustl.edu	37	chr3	10979946	10979946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccatccagaaactccagaAgttgacgacccccagcacag	15	4	7	15	1	0	3	0	1	0	2	2	4	2	3	5	0	3	2	5	0	3	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:10979946A>G	ENST00000254488.2	+	14	1823	c.1757A>G	c.(1756-1758)aAg>aGg	p.K586R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	586					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	AAACTCCAGAAGTTGACGACC	0.562																																																	0													101	94	96					3																	10979946		2203	4300	6503	SO:0001583	missense	0			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1757A>G	3.37:g.10979946A>G	ENSP00000254488:p.Lys586Arg		B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.K586R	ENST00000254488.2	37	c.1757	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	A	5.236	0.228978	0.09916	.	.	ENSG00000132164	ENST00000254488	T	0.74632	-0.86	4.81	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.49551	-0.8928	10	0.25106	T	0.35	.	10.7275	0.46077	0.6938:0.3062:0.0:0.0	.	586	P48066	S6A11_HUMAN	R	586	ENSP00000254488:K586R	ENSP00000254488:K586R	K	+	2	0	SLC6A11	10954946	1.000000	0.71417	0.987000	0.45799	0.086000	0.17979	3.836000	0.55813	0.694000	0.31654	-0.291000	0.09656	AAG	SLC6A11	-	NULL	ENSG00000132164		0.562	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	-	0	47	0	A	NM_014229		10979946	1	tier1	-	no_errors	ENST00000254488	ensembl	human	known	74_37	missense	28.26	33	13	SNP	1.000	G	G	10979946	A	G	10979946	3	3	70	1	0	0	0	0	1	0	0	0	14719	72	3	4	1811	4	SLC6A11	3	10979946	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	537274	10979946	187042484	33	18999											
KCNH8	131096	genome.wustl.edu	37	chr3	19436748	19436748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactggatggcgtgtatctgGtacgtcattggaaaaatgga	11	11	13	6	2	2	0	1	0	1	0	2	3	2	3	0	5	1	2	0	5	4	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:19436748G>T	ENST00000328405.2	+	7	1388	c.1122G>T	c.(1120-1122)tgG>tgT	p.W374C	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_Missense_Mutation_p.W15C	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	374					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.W374C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CGTGTATCTGGTACGTCATTG	0.433																																					NSCLC(124;1625 1765 8018 24930 42026)												1	Substitution - Missense(1)	lung(1)											157	139	145					3																	19436748		2203	4300	6503	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1122G>T	3.37:g.19436748G>T	ENSP00000328813:p.Trp374Cys		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.W374C	ENST00000328405.2	37	c.1122	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629963	0.87660	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.97455	-4.39;1.82	5.79	5.79	0.91817	Ion transport (1);	0.000000	0.30920	U	0.008609	D	0.98852	0.9612	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99184	1.0868	9	.	.	.	.	20.0326	0.97545	0.0:0.0:1.0:0.0	.	15;374;374	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	C	374;15	ENSP00000328813:W374C;ENSP00000446294:W15C	.	W	+	3	0	KCNH8	19411752	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.869000	0.99810	2.732000	0.93576	0.557000	0.71058	TGG	KCNH8	-	pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000183960		0.433	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	-	0	72	0	G	NM_144633		19436748	1	tier1	-	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	19436748	G	T	19436748	3	4	70	1	0	0	0	0	1	0	0	0	8065	1270	44	3	1148	3	KCNH8	3	19436748	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	8456802	19436748	178585682	34	19000											
ZNF167	55888	genome.wustl.edu	37	chr3	44598919	44598919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtgaggaggctgtggCtgtggtggaggatttccaga	7	10	20	4	0	0	2	0	1	0	1	1	6	1	5	1	7	0	2	1	7	0	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:44598919C>A	ENST00000273320.3	+	2	809	c.380C>A	c.(379-381)gCt>gAt	p.A127D	ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.A127D|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.A127D|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.A127D	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	127	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGGCTGTGGCTGTGGTGGAG	0.582																																																	0													75	79	78					3																	44598919		2203	4300	6503	SO:0001583	missense	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"Zinc fingers, C2H2-type", "-", "-", "-"	12955	protein-coding gene	gene with protein product			"zinc finger protein 64", "zinc finger protein 448", "zinc finger protein 167"	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.380C>A	3.37:g.44598919C>A	ENSP00000273320:p.Ala127Asp		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.A127D	ENST00000273320.3	37	c.380	CCDS2715.1	3	.	.	.	.	.	.	.	.	.	.	.	21.1	4.092857	0.76756	.	.	ENSG00000196345	ENST00000431636;ENST00000426540;ENST00000341840;ENST00000273320	T;T;T;T	0.05925	3.37;3.37;3.37;3.37	4.9	4.9	0.64082	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.32952	N	0.005442	T	0.21427	0.0516	M	0.63169	1.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.00123	-1.2025	10	0.49607	T	0.09	-8.9479	13.9699	0.64233	0.0:1.0:0.0:0.0	.	127;127	Q9P0L1;Q9P0L1-2	ZN167_HUMAN;.	D	127	ENSP00000416681:A127D;ENSP00000395524:A127D;ENSP00000345404:A127D;ENSP00000273320:A127D	ENSP00000273320:A127D	A	+	2	0	ZNF167	44573923	0.981000	0.34729	0.999000	0.59377	0.997000	0.91878	2.510000	0.45468	2.436000	0.82500	0.655000	0.94253	GCT	ZKSCAN7	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000196345		0.582	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN7	HGNC	protein_coding	OTTHUMT00000256752.4	-	0	42	0	C	NM_018651		44598919	1	tier1	-	no_errors	ENST00000273320	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.997	A	A	44598919	C	A	44598919	3	1	70	1	0	0	0	0	1	0	0	0	17789	797	28	3	382	3	ZNF167	3	44598919	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	25162171	44598919	153423511	35	19001											
PLXNB1	5364	genome.wustl.edu	37	chr3	48462114	48462114	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccagcatcacacgaggccTtgtgggtgcacaggtgctgc	7	7	14	13	1	1	0	1	0	0	0	1	1	1	0	2	3	4	3	2	3	0	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:48462114T>A	ENST00000358536.4	-	10	2257	c.1988A>T	c.(1987-1989)aAg>aTg	p.K663M	PLXNB1_ENST00000456774.1_Missense_Mutation_p.K663M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.K663M|PLXNB1_ENST00000358459.4_Missense_Mutation_p.K663M|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	663					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACACGAGGCCTTGTGGGTGCA	0.632																																																	0													64	56	59					3																	48462114		2203	4300	6503	SO:0001583	missense	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1988A>T	3.37:g.48462114T>A	ENSP00000351338:p.Lys663Met		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K663M	ENST00000358536.4	37	c.1988	CCDS2765.1	3	.	.	.	.	.	.	.	.	.	.	T	19.48	3.836446	0.71373	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03524	3.9;3.92;3.9;3.92	5.24	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.12902	0.0313	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.68765	0.956;0.96	T	0.00451	-1.1731	10	0.52906	T	0.07	.	10.1914	0.43028	0.0:0.0784:0.0:0.9216	.	663;663	O43157;O43157-2	PLXB1_HUMAN;.	M	663	ENSP00000296440:K663M;ENSP00000351242:K663M;ENSP00000351338:K663M;ENSP00000414199:K663M	ENSP00000296440:K663M	K	-	2	0	PLXNB1	48437118	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	4.802000	0.62539	0.850000	0.35239	0.459000	0.35465	AAG	PLXNB1	-	superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000164050		0.632	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0	53	0	T	NM_002673		48462114	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	missense	29.63	38	16	SNP	1.000	A	A	48462114	T	A	48462114	3	1	70	1	0	0	0	0	1	0	0	0	12162	1609	56	5	4535	5	PLXNB1	3	48462114	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	3863195	48462114	149560316	36	19002											
MAGI1	9223	genome.wustl.edu	37	chr3	65425560	65425560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaggccaaccttctgTctgctgctgctgctgctgct	6	11	12	12	0	2	1	0	0	2	1	2	2	2	2	2	2	7	6	2	2	2	1	rs113903140|rs35698502|rs142043619	byFrequency	TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:65425560T>G	ENST00000497477.2	-	9	1263	c.1264A>C	c.(1264-1266)Aca>Cca	p.T422P	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.T422P|MAGI1_ENST00000402939.2_Missense_Mutation_p.T422P|MAGI1_ENST00000330909.8_Missense_Mutation_p.T422P			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	422					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CAACCTTCTGTctgctgctgc	0.562											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62	64	63					3																	65425560		2203	4300	6503	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1264A>C	3.37:g.65425560T>G	ENSP00000424369:p.Thr422Pro	1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.T422P	ENST00000497477.2	37	c.1264		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.21|11.21	1.571435|1.571435	0.28003|0.28003	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257;ENST00000479287	.|T;T;T;T;T;T;T	.|0.74209	.|-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;2.55	4.83|4.83	-1.66|-1.66	0.08265|0.08265	.|.	.|1.555390	.|0.03879	.|N	.|0.276867	T|T	0.37679|0.37679	0.1012|0.1012	N|N	0.00707|0.00707	-1.245|-1.245	0.21256|0.21256	N|N	0.999745|0.999745	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.06405	.|0.0;0.0;0.0;0.001;0.002	T|T	0.20538|0.20538	-1.0272|-1.0272	5|10	.|0.21014	.|T	.|0.42	11.3497|11.3497	1.3113|1.3113	0.02098|0.02098	0.2577:0.2486:0.3547:0.1389|0.2577:0.2486:0.3547:0.1389	.|.	.|422;422;422;422;422	.|Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	S|P	302|422;422;318;297;422;422;208;172	.|ENSP00000385450:T422P;ENSP00000331157:T422P;ENSP00000418177:T297P;ENSP00000420323:T422P;ENSP00000424369:T422P;ENSP00000420796:T208P;ENSP00000418044:T172P	.|ENSP00000331157:T422P	R|T	-|-	3|1	2|0	MAGI1|MAGI1	65400600|65400600	0.000000|0.000000	0.05858|0.05858	0.247000|0.247000	0.24249|0.24249	0.504000|0.504000	0.33889|0.33889	0.074000|0.074000	0.14662|0.14662	-0.196000|-0.196000	0.10366|0.10366	0.528000|0.528000	0.53228|0.53228	AGA|ACA	MAGI1	-	NULL	ENSG00000151276		0.562	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2		0	82	0	T	NM_004742		65425560	-1			no_errors	ENST00000402939	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.208	G	G	65425560	T	G	65425560	3	3	70	1	0	0	0	0	1	0	0	0	9228	1667	58	4	3418	4	MAGI1	3	65425560	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	16963446	65425560	132596870	37	19003											
MITF	4286	genome.wustl.edu	37	chr3	70014297	70014297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgacaccctttctcccgtCggtgtcactgatccactcct	6	11	7	17	3	2	1	1	1	1	0	6	3	4	1	4	1	0	0	4	1	0	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:70014297C>T	ENST00000448226.2	+	10	1606	c.1479C>T	c.(1477-1479)gtC>gtT	p.V493V	MITF_ENST00000314557.6_Silent_p.V380V|MITF_ENST00000394351.3_Silent_p.V386V|MITF_ENST00000531774.1_Silent_p.V324V|MITF_ENST00000394355.2_Silent_p.V462V|MITF_ENST00000328528.6_Silent_p.V486V|MITF_ENST00000352241.4_Silent_p.V487V|MITF_ENST00000314589.5_Silent_p.V471V|MITF_ENST00000472437.1_Silent_p.V435V			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	493					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTTCTCCCGTCGGTGTCACTG	0.542			A		melanoma		"Waardenburg syndrome type 2, Tietz syndrome"																														Melanoma(29;269 969 31479 41502 42961)			Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													129	117	121					3																	70014297		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"Basic helix-loop-helix proteins"	7105	protein-coding gene	gene with protein product	"homolog of mouse microphthalmia"	156845	"Waardenburg syndrome, type 2A"	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1479C>T	3.37:g.70014297C>T			B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Silent	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V493	ENST00000448226.2	37	c.1479		3																																																																																			MITF	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000187098		0.542	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	MITF	HGNC	protein_coding	OTTHUMT00000313947.1	-	0	27	0	C	NM_198159		70014297	1	tier1	-	no_errors	ENST00000448226	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.000	T	T	70014297	C	T	70014297	2	4	70	1	0	0	0	0	0	0	0	1	9634	871	31	1		1	MITF	3	70014297	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	4588737	70014297	128008133	38	19004											
POLQ	10721	genome.wustl.edu	37	chr3	121208513	121208513	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgaatttctaaattccgTtttcttctcatctaaggtaa	10	17	4	10	1	4	1	1	1	4	0	6	1	5	1	2	1	0	2	2	1	5	8			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:121208513T>G	ENST00000264233.5	-	16	3393	c.3265A>C	c.(3265-3267)Acg>Ccg	p.T1089P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1089					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTAAATTCCGTTTTCTTCTCA	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													48	55	53					3																	121208513		2166	4280	6446	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3265A>C	3.37:g.121208513T>G	ENSP00000264233:p.Thr1089Pro		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.T1089P	ENST00000264233.5	37	c.3265	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	T	5.309	0.242415	0.10077	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50001	0.76	4.97	-3.87	0.04218	.	1.751750	0.02272	N	0.068588	T	0.24736	0.0600	N	0.19112	0.55	0.09310	N	1	P;P	0.37864	0.475;0.61	B;B	0.31686	0.063;0.134	T	0.07083	-1.0791	10	0.28530	T	0.3	.	1.767	0.03004	0.1288:0.3001:0.1332:0.4379	.	1089;261	O75417;O75417-2	DPOLQ_HUMAN;.	P	712;1089;1225	ENSP00000264233:T1089P	ENSP00000264233:T1089P	T	-	1	0	POLQ	122691203	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.170000	0.09897	-0.901000	0.03891	0.379000	0.24179	ACG	POLQ	-	NULL	ENSG00000051341		0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	46	0	T	NM_199420		121208513	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	36.36	21	12	SNP	0.000	G	G	121208513	T	G	121208513	3	3	70	1	0	0	0	0	1	0	0	0	12247	1725	60	4	4567	4	POLQ	3	121208513	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	51194216	121208513	76813917	39	19005											
ZIC4	84107	genome.wustl.edu	37	chr3	147121771	147121771	+	5'UTR	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcccagagggtattatTattttcaattctttctaacc	9	19	4	9	0	3	1	1	0	2	1	4	1	4	1	2	1	1	1	2	1	5	10			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:147121771T>G	ENST00000484399.1	-	0	300				ZIC4_ENST00000473123.1_Intron|ZIC4_ENST00000425731.3_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.N39H|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000383075.3_Intron			Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGGGTATTATTATTTTCAATT	0.468																																																	0													42	35	37					3																	147121771		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"Zinc fingers, C2H2-type"	20393	protein-coding gene	gene with protein product		608948	"zinc finger protein of the cerebellum 4"				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000484399.1:c.-36A>C	3.37:g.147121771T>G			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N39H	ENST00000484399.1	37	c.115	CCDS43160.1	3	.	.	.	.	.	.	.	.	.	.	T	9.289	1.050097	0.19827	.	.	ENSG00000174963	ENST00000525172	T	0.12569	2.67	4.79	4.79	0.61399	.	.	.	.	.	T	0.10035	0.0246	N	0.08118	0	0.80722	D	1	B	0.31790	0.34	B	0.39617	0.305	T	0.23976	-1.0173	9	0.87932	D	0	.	10.905	0.47076	0.0:0.0:0.0:1.0	.	39	B7Z2L2	.	H	39	ENSP00000435509:N39H	ENSP00000435509:N39H	N	-	1	0	ZIC4	148604461	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.387000	0.52501	2.149000	0.67028	0.533000	0.62120	AAT	ZIC4	-	NULL	ENSG00000174963		0.468	ZIC4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355507.1	-	0	57	0	T			147121771	-1	tier1	-	no_errors	ENST00000525172	ensembl	human	known	74_37	missense	58.62	12	17	SNP	0.999	G	G	147121771	T	G	147121771	1	3	70	0	1	0	0	0	0	0	0	0	17729	1754	61	4		4	ZIC4	3	147121771	5'UTR	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	25913258	147121771	50900659	40	19006											
TSC22D2	9819	genome.wustl.edu	37	chr3	150127665	150127665	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcggagagccctatagAcgcggccgatggacgtgtat	9	6	17	9	5	0	2	0	0	0	2	0	6	0	4	2	4	2	1	2	4	3	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:150127665A>G	ENST00000361875.3	+	1	1544	c.528A>G	c.(526-528)agA>agG	p.R176R	TSC22D2_ENST00000361136.2_Silent_p.R176R	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	176					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGCCCTATAGACGCGGCCGAT	0.572																																																	0													92	93	92					3																	150127665		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.528A>G	3.37:g.150127665A>G			D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Silent	SNP	pfam_TSC-22_Dip_Bun	p.R176	ENST00000361875.3	37	c.528	CCDS3149.1	3																																																																																			TSC22D2	-	NULL	ENSG00000196428		0.572	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	-	0	48	0	A	NM_014779		150127665	1	tier1	-	no_errors	ENST00000361875	ensembl	human	known	74_37	silent	36.00	16	9	SNP	0.650	G	G	150127665	A	G	150127665	2	3	70	1	0	0	0	0	0	0	0	1	16656	272	10	4		4	TSC22D2	3	150127665	Silent	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	3005894	150127665	47894765	41	19007											
SI	6476	genome.wustl.edu	37	chr3	164712164	164712164	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttgacatttcagcaaaAgtttcattccaggaagcggg	11	12	9	9	1	2	1	2	1	0	0	4	2	4	2	2	2	2	2	2	2	3	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr3:164712164A>C	ENST00000264382.3	-	41	4784	c.4722T>G	c.(4720-4722)acT>acG	p.T1574T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1574	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTTCAGCAAAAGTTTCATTCC	0.318										HNSCC(35;0.089)																																							0													105	110	109					3																	164712164		2203	4300	6503	SO:0001819	synonymous_variant	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4722T>G	3.37:g.164712164A>C			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.T1574	ENST00000264382.3	37	c.4722	CCDS3196.1	3																																																																																			SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.318	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	47	0	A	NM_001041		164712164	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	48.28	15	14	SNP	0.064	C	C	164712164	A	C	164712164	2	2	70	1	0	0	0	0	0	0	0	1	14342	59	3	4		4	SI	3	164712164	Silent	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	14584499	164712164	33310266	42	19008											
EVC2	132884	genome.wustl.edu	37	chr4	5570279	5570279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcagctgaggctgtgagGctgtgggcagtaccacactc	8	7	14	12	0	0	2	0	2	0	0	1	2	0	2	2	3	3	6	2	3	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr4:5570279G>T	ENST00000344408.5	-	20	3502	c.3449C>A	c.(3448-3450)gCc>gAc	p.A1150D	EVC2_ENST00000344938.1_Missense_Mutation_p.A1150D|EVC2_ENST00000310917.2_Missense_Mutation_p.A1070D	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1150					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGGCTGTGAGGCTGTGGGCAG	0.662																																																	0													29	30	30					4																	5570279		2202	4300	6502	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3449C>A	4.37:g.5570279G>T	ENSP00000342144:p.Ala1150Asp		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.A1150D	ENST00000344408.5	37	c.3449	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969283	0.34754	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74947	-0.89;-0.88;-0.89	5.3	4.44	0.53790	.	0.194461	0.45606	N	0.000352	T	0.60728	0.2291	N	0.24115	0.695	0.09310	N	1	P	0.38922	0.651	B	0.38562	0.276	T	0.59799	-0.7386	10	0.59425	D	0.04	-8.3859	10.4731	0.44648	0.0:0.2565:0.7435:0.0	.	1150	Q86UK5	LBN_HUMAN	D	1150;1070;1150	ENSP00000339954:A1150D;ENSP00000311683:A1070D;ENSP00000342144:A1150D	ENSP00000311683:A1070D	A	-	2	0	EVC2	5621180	0.846000	0.29590	0.178000	0.23040	0.018000	0.09664	1.931000	0.40134	2.480000	0.83734	0.511000	0.50034	GCC	EVC2	-	NULL	ENSG00000173040		0.662	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0	44	0	G	NM_147127		5570279	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.066	T	T	5570279	G	T	5570279	3	4	70	1	0	0	0	0	1	0	0	0	5302	1203	42	3	489	3	EVC2	4	5570279	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		5570279	185583997	43	19009											
AASDH	132949	genome.wustl.edu	37	chr4	57220240	57220240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgttaagacgtttgccatGacgtttgatctgactgtctt	9	16	9	7	2	2	4	0	3	2	1	2	4	2	4	1	0	1	3	1	0	2	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr4:57220240G>A	ENST00000205214.6	-	8	1528	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	AASDH_ENST00000513376.1_Missense_Mutation_p.H350Y|AASDH_ENST00000502617.1_Missense_Mutation_p.H450Y|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000602986.1_Missense_Mutation_p.H297Y|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000451613.1_Missense_Mutation_p.H450Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	450					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CGTTTGCCATGACGTTTGATC	0.378																																																	0													102	95	97					4																	57220240		2202	4300	6502	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1348C>T	4.37:g.57220240G>A	ENSP00000205214:p.His450Tyr		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.H450Y	ENST00000205214.6	37	c.1348	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130630	0.77549	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.49432	0.78;0.78;2.85;0.78	6.05	5.21	0.72293	AMP-dependent synthetase/ligase (1);	0.176828	0.64402	N	0.000009	T	0.63426	0.2510	L	0.54323	1.7	0.35845	D	0.826333	P;D;D;D	0.69078	0.675;0.988;0.988;0.997	B;P;P;D	0.68039	0.281;0.838;0.773;0.955	T	0.73723	-0.3893	10	0.72032	D	0.01	-17.7158	15.5206	0.75862	0.0661:0.0:0.9339:0.0	.	297;450;450;450	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	Y	450;350;450;297;450	ENSP00000205214:H450Y;ENSP00000423760:H350Y;ENSP00000409656:H450Y;ENSP00000421171:H450Y	ENSP00000205214:H450Y	H	-	1	0	AASDH	56914997	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.271000	0.51608	1.561000	0.49584	0.650000	0.86243	CAT	AASDH	-	pfam_AMP-dep_Synth/Lig	ENSG00000157426		0.378	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	-	0	43	0	G	NM_181806		57220240	-1	tier1	-	no_errors	ENST00000205214	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	A	A	57220240	G	A	57220240	3	1	70	1	0	0	0	0	1	0	0	0	22	1290	45	3	1980	3	AASDH	4	57220240	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	51649961	57220240	133934036	44	19010											
PAQR3	152559	genome.wustl.edu	37	chr4	79856348	79856348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaaggtaacacagatGtcatgtcatatattcccagg	12	12	9	8	0	2	2	2	1	0	1	3	2	3	2	1	2	2	2	1	2	4	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr4:79856348G>T	ENST00000512733.1	-	2	488	c.275C>A	c.(274-276)aCa>aAa	p.T92K	PAQR3_ENST00000295462.3_Intron|PAQR3_ENST00000380645.4_Missense_Mutation_p.T92K	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	92					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TAACACAGATGTCATGTCATA	0.358																																																	0													120	123	122					4																	79856348		2203	4300	6503	SO:0001583	missense	0			AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.275C>A	4.37:g.79856348G>T	ENSP00000421981:p.Thr92Lys		A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	pfam_HlyIII-related	p.T92K	ENST00000512733.1	37	c.275	CCDS34020.1	4	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166298	0.38217	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.30714	1.52;1.52	5.32	5.32	0.75619	.	0.281808	0.39615	N	0.001302	T	0.27313	0.0670	L	0.52011	1.625	0.80722	D	1	B	0.17038	0.02	B	0.27380	0.079	T	0.05468	-1.0883	10	0.07644	T	0.81	-10.5498	12.3553	0.55171	0.0774:0.0:0.9226:0.0	.	92	Q6TCH7	PAQR3_HUMAN	K	92	ENSP00000421981:T92K;ENSP00000370019:T92K	ENSP00000344203:T92K	T	-	2	0	PAQR3	80075372	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.501000	0.53325	2.497000	0.84241	0.563000	0.77884	ACA	PAQR3	-	pfam_HlyIII-related	ENSG00000163291		0.358	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR3	HGNC	protein_coding	OTTHUMT00000363442.1	-	0	36	0	G	NM_177453		79856348	-1	tier1	-	no_errors	ENST00000511594	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.995	T	T	79856348	G	T	79856348	3	4	70	1	0	0	0	0	1	0	0	0	11475	1377	48	3	680	3	PAQR3	4	79856348	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	22636108	79856348	111297928	45	19011											
ADH7	131	genome.wustl.edu	37	chr4	100349278	100349278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgccatctgggttgcGacaagcattgcattctctac	9	12	10	10	1	2	0	0	0	2	0	3	1	2	0	1	2	5	4	1	2	3	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr4:100349278G>T	ENST00000209665.4	-	4	589	c.349C>A	c.(349-351)Cgc>Agc	p.R117S	ADH7_ENST00000437033.2_Missense_Mutation_p.R105S|ADH7_ENST00000482593.1_Missense_Mutation_p.R48S|ADH7_ENST00000476959.1_Missense_Mutation_p.R125S	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	117					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TCTGGGTTGCGACAAGCATTG	0.343																																																	0													146	146	146					4																	100349278		2203	4300	6503	SO:0001583	missense	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"Alcohol dehydrogenases"	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.349C>A	4.37:g.100349278G>T	ENSP00000209665:p.Arg117Ser		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.R117S	ENST00000209665.4	37	c.349	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324623	0.60634	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51	4.91	-4.26	0.03755	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.515963	0.19924	N	0.103003	T	0.05502	0.0145	L	0.41027	1.25	0.09310	N	1	B	0.28605	0.217	B	0.37451	0.25	T	0.32508	-0.9904	10	0.52906	T	0.07	-4.2334	4.6986	0.12816	0.4511:0.0:0.2356:0.3133	.	117	P40394	ADH7_HUMAN	S	105;117;48;125;48	ENSP00000414254:R105S;ENSP00000209665:R117S;ENSP00000420613:R48S;ENSP00000420269:R125S;ENSP00000420300:R48S	ENSP00000209665:R117S	R	-	1	0	ADH7	100568301	0.000000	0.05858	0.000000	0.03702	0.679000	0.39708	-0.998000	0.03701	-0.461000	0.06993	0.655000	0.94253	CGC	ADH7	-	pfam_ADH_GroES-like,superfamily_GroES-like	ENSG00000196344		0.343	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		-	0	36	0	G	NM_000673		100349278	-1	tier1	-	no_errors	ENST00000209665	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T	T	100349278	G	T	100349278	3	4	70	1	0	0	0	0	1	0	0	0	313	1058	37	2	835	2	ADH7	4	100349278	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	20492930	100349278	90804998	46	19012											
FAT4	79633	genome.wustl.edu	37	chr4	126238008	126238008	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcactttcaaggaagacAgtagcagcggacgccaagtc	12	7	12	10	2	2	1	2	0	0	1	3	3	2	3	1	3	2	2	1	3	4	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr4:126238008A>C	ENST00000394329.3	+	1	455	c.442A>C	c.(442-444)Agt>Cgt	p.S148R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAGGAAGACAGTAGCAGCGG	0.607											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													34	39	37					4																	126238008		2051	4213	6264	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.442A>C	4.37:g.126238008A>C	ENSP00000377862:p.Ser148Arg	1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S148R	ENST00000394329.3	37	c.442	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513630	0.44763	.	.	ENSG00000196159	ENST00000394329	T	0.52754	0.65	5.11	5.11	0.69529	Cadherin (3);Cadherin-like (1);	0.253891	0.20449	U	0.092127	T	0.44993	0.1320	L	0.32530	0.975	0.80722	D	1	P	0.37594	0.601	B	0.42959	0.403	T	0.43845	-0.9366	10	0.49607	T	0.09	.	14.9175	0.70810	1.0:0.0:0.0:0.0	.	148	Q6V0I7	FAT4_HUMAN	R	148	ENSP00000377862:S148R	ENSP00000377862:S148R	S	+	1	0	FAT4	126457458	1.000000	0.71417	0.998000	0.56505	0.600000	0.36913	7.261000	0.78400	1.917000	0.55516	0.533000	0.62120	AGT	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000196159		0.607	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	44	0	A	NM_024582		126238008	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	C	C	126238008	A	C	126238008	3	2	70	1	0	0	0	0	1	0	0	0	5714	188	7	4	444	4	FAT4	4	126238008	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	25888730	126238008	64916268	47	19013											
DDX60	55601	genome.wustl.edu	37	chr4	169143005	169143005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactggagcctgagagcGattgacaccgattgtgccta	10	8	12	11	2	0	2	0	2	0	1	0	6	0	3	3	1	4	1	3	1	1	3	rs367640779		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr4:169143005G>T	ENST00000393743.3	-	36	5143	c.4852C>A	c.(4852-4854)Cgc>Agc	p.R1618S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1618					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GCCTGAGAGCGATTGACACCG	0.363																																																	0													93	92	92					4																	169143005		2203	4300	6503	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4852C>A	4.37:g.169143005G>T	ENSP00000377344:p.Arg1618Ser		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1618S	ENST00000393743.3	37	c.4852	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	3.001	-0.206030	0.06180	.	.	ENSG00000137628	ENST00000393743	T	0.16073	2.37	5.01	-3.93	0.04143	.	1.661850	0.03256	N	0.182558	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.0;0.001	T	0.26503	-1.0101	10	0.09590	T	0.72	.	3.8331	0.08882	0.356:0.4208:0.1256:0.0976	.	1618;110	Q8IY21;Q9NT91	DDX60_HUMAN;.	S	1618	ENSP00000377344:R1618S	ENSP00000377344:R1618S	R	-	1	0	DDX60	169379580	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.031000	0.03578	-0.588000	0.05882	-0.300000	0.09419	CGC	DDX60	-	NULL	ENSG00000137628		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1		0	54	0	G	NM_017631		169143005	-1			no_errors	ENST00000393743	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	T	T	169143005	G	T	169143005	3	4	70	1	0	0	0	0	1	0	0	0	4387	1058	37	2	298	2	DDX60	4	169143005	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	42904997	169143005	22011271	48	19014											
STOX2	56977	genome.wustl.edu	37	chr4	184932575	184932575	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggattcaactccccaCggtagggagaggtgtctctg	9	9	13	10	1	2	1	1	0	1	1	4	3	3	2	2	4	1	1	2	4	2	2	rs201760642		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr4:184932575C>T	ENST00000308497.4	+	3	4019	c.2584C>T	c.(2584-2586)Cgt>Tgt	p.R862C	STOX2_ENST00000438269.1_Splice_Site_p.R862W	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	862					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAACTCCCCACGGTAGGGAGA	0.552																																																	0								C	CYS/ARG	0,4298		0,0,2149	54	61	59		2584	5.7	1	4		59	5,8503		0,5,4249	yes	missense-near-splice	STOX2	NM_020225.1	180	0,5,6398	TT,TC,CC		0.0588,0.0,0.039	probably-damaging	862/927	184932575	5,12801	2149	4254	6403	SO:0001630	splice_region_variant	0			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2585+1C>T	4.37:g.184932575C>T			A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.R862C	ENST00000308497.4	37	c.2584	CCDS47167.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.846559|4.846559	0.91277|0.91277	0.0|0.0	5.88E-4|5.88E-4	ENSG00000173320|ENSG00000173320	ENST00000308497|ENST00000438269	D|D	0.83335|0.85258	-1.71|-1.96	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89399|0.89399	0.6704|0.6704	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.80764|0.83275	0.994|0.996	D|D	0.89827|0.89827	0.3993|0.3993	10|10	0.87932|0.87932	D|D	0|0	-20.3885|-20.3885	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	862|862	Q9P2F5|Q9P2F5-2	STOX2_HUMAN|.	C|W	862|862	ENSP00000311257:R862C|ENSP00000390127:R862W	ENSP00000311257:R862C|ENSP00000390127:R862W	R|R	+|+	1|1	0|2	STOX2|STOX2	185169569|185169569	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	4.561000|4.561000	0.60809|0.60809	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|CGG	STOX2	-	NULL	ENSG00000173320		0.552	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	0	80	0	C	NM_020225	Missense_Mutation	184932575	1	tier1	rs201760642	no_errors	ENST00000308497	ensembl	human	known	74_37	missense	56.76	16	21	SNP	1.000	T	T	184932575	C	T	184932575	5	4	70	1	0	0	0	0	0	0	1	0	15367	550	19	1	2594	1	STOX2	4	184932575	Splice_Site	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	15789570	184932575	6221701	49	19015											
DNAH5	1767	genome.wustl.edu	37	chr5	13868096	13868096	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctgttaagcagggcataAgattcctaaaaaaaaatagg	18	10	8	5	0	1	1	0	0	1	1	2	1	2	1	1	2	1	3	1	2	9	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:13868096A>C	ENST00000265104.4	-	25	3944	c.3840T>G	c.(3838-3840)tcT>tcG	p.S1280S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1280	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGGGCATAAGATTCCTAAA	0.378									Kartagener syndrome																																								0													63	55	58					5																	13868096		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3840T>G	5.37:g.13868096A>C			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S1280	ENST00000265104.4	37	c.3840	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	38	0	A	NM_001369		13868096	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.999	C	C	13868096	A	C	13868096	2	2	70	1	0	0	0	0	0	0	0	1	4618	59	3	4		4	DNAH5	5	13868096	Silent	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09		13868096	167047164	50	19016											
EGFLAM	133584	genome.wustl.edu	37	chr5	38258907	38258907	+	Frame_Shift_Del	DEL	C	C	-																															ctcctgctcctggcttccagCctcggacccggcgcggtgtc																										TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:38258907delC	ENST00000354891.3	+	1	397	c.51delC	c.(49-51)agcfs	p.S17fs	EGFLAM_ENST00000322350.5_Frame_Shift_Del_p.S17fs	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	17					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGCTTCCAGCCTCGGACCCG	0.672																																					Colon(62;485 1295 3347 17454)												0													20	19	19					5																	38258907		2202	4294	6496	SO:0001589	frameshift_variant	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.51delC	5.37:g.38258907delC	ENSP00000346964:p.Ser17fs		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.L18fs	ENST00000354891.3	37	c.51	CCDS56363.1	5																																																																																			EGFLAM	-	NULL	ENSG00000164318		0.672	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1		0	36	0	C	NM_152403		38258907	1	tier1		no_errors	ENST00000354891	ensembl	human	known	74_37	frame_shift_del	61.29	12	19	DEL	0.903	-	-	38258907	C	-	38258907	7	5	70	1	0	1	0	1	0	0	0	0	4980	738	26	0	53	0	EGFLAM	5	38258907	Frame_Shift_Del	DEL	C	TCGA-L5-A4OX-01A-21D-A28B-09	24390811	38258907	142656353	51	19017											
GPR98	84059	genome.wustl.edu	37	chr5	89938579	89938579	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggaccctatgttataaaAgtaagtacgaaaaaaacttc	19	9	7	6	1	0	1	0	0	0	1	1	3	0	2	1	1	2	3	1	1	9	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:89938579A>C	ENST00000405460.2	+	12	2463	c.2367A>C	c.(2365-2367)aaA>aaC	p.K789N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	789	Calx-beta 6. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGTTATAAAAGTAAGTACGA	0.358																																																	0													81	86	85					5																	89938579		1796	4065	5861	SO:0001630	splice_region_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2367+1A>C	5.37:g.89938579A>C			O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.K789N	ENST00000405460.2	37	c.2367	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	4.378	0.069659	0.08436	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.26518	1.73	5.09	-3.28	0.05033	Na-Ca exchanger/integrin-beta4 (1);	0.253642	0.46758	N	0.000271	T	0.08980	0.0222	N	0.12471	0.22	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.13388	-1.0511	10	0.34782	T	0.22	.	1.2194	0.01921	0.4406:0.1111:0.1432:0.3051	.	789	Q8WXG9	GPR98_HUMAN	N	789	ENSP00000384582:K789N	ENSP00000296619:K789N	K	+	3	2	GPR98	89974335	0.005000	0.15991	0.992000	0.48379	0.049000	0.14656	-1.095000	0.03356	-0.271000	0.09272	-0.545000	0.04230	AAA	GPR98	-	smart_Calx_beta	ENSG00000164199		0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	61	0	A	NM_032119	Missense_Mutation	89938579	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	33.96	35	18	SNP	0.944	C	C	89938579	A	C	89938579	5	2	70	1	0	0	0	0	0	0	1	0	6748	86	3	4	2413	4	GPR98	5	89938579	Splice_Site	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	51679672	89938579	90976681	52	19018											
PGGT1B	5229	genome.wustl.edu	37	chr5	114572128	114572128	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcttttttcatatccaTgcctgaccagttgttgagca	8	15	9	9	0	1	2	1	2	0	0	2	3	2	2	3	1	2	4	3	1	1	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:114572128T>A	ENST00000419445.1	-	5	591	c.571A>T	c.(571-573)Atg>Ttg	p.M191L	PGGT1B_ENST00000379615.3_Missense_Mutation_p.M191L	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	191					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		TTCATATCCATGCCTGACCAG	0.383																																																	0													138	127	131					5																	114572128		2202	4300	6502	SO:0001583	missense	0				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.571A>T	5.37:g.114572128T>A	ENSP00000404676:p.Met191Leu		Q5MJP9	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.M191L	ENST00000419445.1	37	c.571	CCDS4116.1	5	.	.	.	.	.	.	.	.	.	.	T	17.48	3.400606	0.62177	.	.	ENSG00000164219	ENST00000419445;ENST00000379615	T;T	0.28255	1.62;1.62	5.27	5.27	0.74061	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.28001	0.0690	L	0.39147	1.195	0.58432	D	0.999996	B;B	0.21606	0.058;0.009	B;B	0.24974	0.039;0.057	T	0.04427	-1.0952	10	0.26408	T	0.33	-14.1738	15.1979	0.73108	0.0:0.0:0.0:1.0	.	191;191	P53609-2;P53609	.;PGTB1_HUMAN	L	191	ENSP00000404676:M191L;ENSP00000368935:M191L	ENSP00000368935:M191L	M	-	1	0	PGGT1B	114600027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.979000	0.88103	1.989000	0.58080	0.482000	0.46254	ATG	PGGT1B	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000164219		0.383	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGGT1B	HGNC	protein_coding	OTTHUMT00000250855.2	-	0	50	0	T	NM_005023		114572128	-1	tier1	-	no_errors	ENST00000419445	ensembl	human	known	74_37	missense	23.21	43	13	SNP	1.000	A	A	114572128	T	A	114572128	3	1	70	1	0	0	0	0	1	0	0	0	11828	1464	51	5	582	5	PGGT1B	5	114572128	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	24633549	114572128	66343132	53	19019											
SLC27A6	28965	genome.wustl.edu	37	chr5	128302146	128302146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attcctctctgaaaaaggggGacacggtggctctgctgatg	9	10	13	9	1	2	2	0	2	2	0	4	3	3	3	1	4	1	2	1	4	2	1	rs376879906		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:128302146G>A	ENST00000262462.4	+	1	1326	c.316G>A	c.(316-318)Gac>Aac	p.D106N	SLC27A6_ENST00000395266.1_Missense_Mutation_p.D106N|SLC27A6_ENST00000506176.1_Missense_Mutation_p.D106N			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	106					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAAAAAGGGGGACACGGTGGC	0.537																																																	0													81	68	73					5																	128302146		2203	4300	6503	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.316G>A	5.37:g.128302146G>A	ENSP00000262462:p.Asp106Asn		Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D106N	ENST00000262462.4	37	c.316	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387634	0.82902	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.59906	0.23;0.23;0.23	4.18	4.18	0.49190	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	H	0.94698	3.57	0.58432	D	0.999999	D	0.76494	0.999	D	0.79784	0.993	D	0.87143	0.2204	10	0.56958	D	0.05	-5.8783	17.8141	0.88625	0.0:0.0:1.0:0.0	.	106	Q9Y2P4	S27A6_HUMAN	N	106	ENSP00000262462:D106N;ENSP00000378684:D106N;ENSP00000421024:D106N	ENSP00000262462:D106N	D	+	1	0	SLC27A6	128330045	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	8.984000	0.93482	2.623000	0.88846	0.561000	0.74099	GAC	SLC27A6	-	pfam_AMP-dep_Synth/Lig	ENSG00000113396		0.537	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1		0	79	0	G	NM_014031		128302146	1			no_errors	ENST00000262462	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	128302146	G	A	128302146	3	1	70	1	0	0	0	0	1	0	0	0	14575	1174	41	3	318	3	SLC27A6	5	128302146	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	13730018	128302146	52613114	54	19020											
SLIT3	6586	genome.wustl.edu	37	chr5	168149269	168149269	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtactcacagcactcgCagggaccgcagcccgttgaa	9	6	13	13	3	1	1	1	1	0	0	2	2	1	2	2	3	3	5	2	3	2	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:168149269C>T	ENST00000519560.1	-	23	2894	c.2475G>A	c.(2473-2475)ctG>ctA	p.L825L	SLIT3_ENST00000332966.8_Silent_p.L825L|SLIT3_ENST00000404867.3_Silent_p.L825L|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	825					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGCACTCGCAGGGACCGCA	0.562																																					Ovarian(29;311 847 10864 17279 24903)												0													148	126	134					5																	168149269		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.2475G>A	5.37:g.168149269C>T			A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L825	ENST00000519560.1	37	c.2475	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000184347		0.562	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	-	0	129	0	C	NM_003062		168149269	-1	tier1	-	no_errors	ENST00000519560	ensembl	human	known	74_37	silent	31.25	77	35	SNP	0.998	T	T	168149269	C	T	168149269	2	4	70	1	0	0	0	0	0	0	0	1	14786	697	25	3		3	SLIT3	5	168149269	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	39847123	168149269	12765991	55	19021											
FAM153B	202134	genome.wustl.edu	37	chr5	175530246	175530246	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagttctgatcagggatgtActtcaggagctgtccagtta	9	13	11	8	0	3	1	2	1	1	0	4	3	4	3	1	2	2	4	1	2	3	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:175530246A>C	ENST00000253490.4	+	13	738	c.681A>C	c.(679-681)gtA>gtC	p.V227V	FAM153B_ENST00000515817.1_Silent_p.V150V|FAM153B_ENST00000510151.1_Silent_p.V150V|FAM153B_ENST00000512862.1_Intron			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	227										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TCAGGGATGTACTTCAGGAGC	0.493																																																	0													213	222	219					5																	175530246		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.681A>C	5.37:g.175530246A>C			A8MTI1	Silent	SNP	prints_FAM153	p.V227	ENST00000253490.4	37	c.681		5																																																																																			FAM153B	-	NULL	ENSG00000182230		0.493	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		-	0	389	0	A	NM_001079529		175530246	1	tier1	-	no_errors	ENST00000253490	ensembl	human	known	74_37	silent	14.29	305	51	SNP	0.000	C	C	175530246	A	C	175530246	2	2	70	1	0	0	0	0	0	0	0	1	5480	378	14	4		4	FAM153B	5	175530246	Silent	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	7380977	175530246	5385014	56	19022											
FAM153A	285596	genome.wustl.edu	37	chr5	177161918	177161918	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactggacagctcctgaagTacatccctgatcagaactag	13	9	8	11	0	1	3	1	2	0	1	3	4	3	4	2	1	4	2	2	1	5	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr5:177161918T>G	ENST00000440605.3	-	12	733	c.450A>C	c.(448-450)gtA>gtC	p.V150V	FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000510276.1_Silent_p.V150V	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	150										kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCCTGAAGTACATCCCTGA	0.488																																																	0													18	16	16					5																	177161918		2111	4243	6354	SO:0001819	synonymous_variant	0			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"NY REN 7 antigen"					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.450A>C	5.37:g.177161918T>G			A8K0F3|O94852	Silent	SNP	prints_FAM153	p.V150	ENST00000440605.3	37	c.450	CCDS34305.1	5																																																																																			FAM153A	-	NULL	ENSG00000170074		0.488	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	FAM153A	HGNC	protein_coding	OTTHUMT00000417242.1	-	0	68	0	T	NM_173663		177161918	-1	tier1	-	no_errors	ENST00000360669	ensembl	human	known	74_37	silent	26.32	42	15	SNP	0.000	G	G	177161918	T	G	177161918	2	3	70	1	0	0	0	0	0	0	0	1	5479	1625	57	4		4	FAM153A	5	177161918	Silent	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	1631672	177161918	3753342	57	19023											
GLP1R	2740	genome.wustl.edu	37	chr6	39047354	39047354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagacttgccaagtccaCgctgacactcatccccctgc	8	8	6	19	1	2	2	2	1	0	1	4	2	4	2	5	0	2	1	5	0	1	1	rs199783730		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr6:39047354C>A	ENST00000373256.4	+	11	1101	c.1058C>A	c.(1057-1059)aCg>aAg	p.T353K		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	353					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	GCCAAGTCCACGCTGACACTC	0.572																																																	0													82	77	79					6																	39047354		2203	4300	6503	SO:0001583	missense	0				CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"GPCR / Class B : Glucagon receptors"	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.1058C>A	6.37:g.39047354C>A	ENSP00000362353:p.Thr353Lys		Q2M229|Q99669	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.T353K	ENST00000373256.4	37	c.1058	CCDS4839.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.084414	0.94100	.	.	ENSG00000112164	ENST00000373256	T	0.41400	1.0	5.4	5.4	0.78164	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.71134	0.3304	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79652	-0.1714	10	0.87932	D	0	.	19.1798	0.93619	0.0:1.0:0.0:0.0	.	353	P43220	GLP1R_HUMAN	K	353	ENSP00000362353:T353K	ENSP00000362353:T353K	T	+	2	0	GLP1R	39155332	1.000000	0.71417	0.958000	0.39756	0.929000	0.56500	7.818000	0.86416	2.537000	0.85549	0.561000	0.74099	ACG	GLP1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000112164		0.572	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP1R	HGNC	protein_coding	OTTHUMT00000040443.1	-	0	54	0	C			39047354	1	tier1	-	no_errors	ENST00000373256	ensembl	human	known	74_37	missense	20.00	52	13	SNP	1.000	A	A	39047354	C	A	39047354	3	1	70	1	0	0	0	0	1	0	0	0	6478	536	19	2	1100	2	GLP1R	6	39047354	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09		39047354	132067713	58	19024											
PRICKLE4	29964	genome.wustl.edu	37	chr6	41752707	41752707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttggggaggaggagcGggccgagctgcagctcttct	5	7	18	11	2	2	0	0	0	2	0	2	4	2	3	2	6	4	3	2	6	0	2	rs200826892		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr6:41752707G>A	ENST00000394260.1	+	2	155	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	PRICKLE4_ENST00000394259.1_Missense_Mutation_p.R52Q|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.R92Q|TOMM6_ENST00000398881.3_5'Flank|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.R92Q|PRICKLE4_ENST00000463606.1_3'UTR|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.R92Q|TOMM6_ENST00000398884.3_5'Flank			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	52	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGGAGGAGCGGGCCGAGCTG	0.597																																																	0													57	64	62					6																	41752707		2203	4300	6503	SO:0001583	missense	0			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"chromosome 6 open reading frame 49"	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685	ENST00000394260.1:c.155G>A	6.37:g.41752707G>A	ENSP00000377803:p.Arg52Gln		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.R92Q	ENST00000394260.1	37	c.275		6	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639130	0.29157	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263;ENST00000394259;ENST00000394260	D;D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05;-2.05	4.47	-3.84	0.04256	.	0.972993	0.08330	N	0.962440	T	0.61874	0.2382	L	0.49778	1.585	0.09310	N	0.999996	B	0.32051	0.354	B	0.29524	0.103	T	0.53222	-0.8469	10	0.27082	T	0.32	-1.0443	9.0123	0.36148	0.2167:0.0:0.5958:0.1875	.	92	Q2TBC4-3	.	Q	92;92;92;52;52	ENSP00000404911:R92Q;ENSP00000352128:R92Q;ENSP00000377806:R92Q;ENSP00000377802:R52Q;ENSP00000377803:R52Q	ENSP00000335185:R92Q	R	+	2	0	PRICKLE4	41860685	0.990000	0.36364	0.380000	0.26093	0.943000	0.58893	0.926000	0.28804	-0.373000	0.07979	-0.704000	0.03662	CGG	PRICKLE4	-	pfam_PET_domain	ENSG00000124593		0.597	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	HGNC	protein_coding	OTTHUMT00000303948.1	-	0	78	0	G	NM_013397		41752707	1	tier1	rs200826892	no_errors	ENST00000335515	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.048	A	A	41752707	G	A	41752707	3	1	70	1	0	0	0	0	1	0	0	0	12531	1116	39	1	285	1	PRICKLE4	6	41752707	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	2705353	41752707	129362360	59	19025											
MDN1	23195	genome.wustl.edu	37	chr6	90463816	90463816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacctcatagagtgagcGctgaatgttgccacatggat	13	9	11	8	1	1	4	1	2	0	2	1	5	1	5	2	1	2	2	2	1	3	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr6:90463816G>T	ENST00000369393.3	-	21	3065	c.2950C>A	c.(2950-2952)Cgc>Agc	p.R984S	MDN1_ENST00000428876.1_Missense_Mutation_p.R984S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	984					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAGAGTGAGCGCTGAATGTTG	0.517																																																	0													77	77	77					6																	90463816		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2950C>A	6.37:g.90463816G>T	ENSP00000358400:p.Arg984Ser		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R984S	ENST00000369393.3	37	c.2950	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704743	0.48412	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.21543	3.51;3.51;2.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.89715	3.055	0.58432	D	0.999993	D;D	0.76494	0.986;0.999	P;D	0.83275	0.795;0.996	T	0.58306	-0.7659	10	0.54805	T	0.06	.	19.4868	0.95032	0.0:0.0:1.0:0.0	.	911;984	Q5T795;Q9NU22	.;MDN1_HUMAN	S	984;984;911	ENSP00000358400:R984S;ENSP00000413970:R984S;ENSP00000409664:R911S	ENSP00000358400:R984S	R	-	1	0	MDN1	90520537	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	7.469000	0.80959	2.598000	0.87819	0.563000	0.77884	CGC	MDN1	-	superfamily_P-loop_NTPase,pirsf_Midasin	ENSG00000112159		0.517	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	61	0	G			90463816	-1			no_errors	ENST00000369393	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	90463816	G	T	90463816	3	4	70	1	0	0	0	0	1	0	0	0	9453	1087	38	2	14168	2	MDN1	6	90463816	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	48711109	90463816	80651251	60	19026											
SDK1	221935	genome.wustl.edu	37	chr7	4188896	4188896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcatttggttgcagagCggccggcaccccccagagag	7	7	13	14	2	1	2	1	0	0	2	2	3	2	2	5	3	2	3	5	3	0	2	rs368261349		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:4188896C>T	ENST00000404826.2	+	30	4565	c.4426C>T	c.(4426-4428)Cgg>Tgg	p.R1476W	SDK1_ENST00000389531.3_Missense_Mutation_p.R1476W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1476					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGTTGCAGAGCGGCCGGCACC	0.667																																																	0								C	TRP/ARG	0,4406		0,0,2203	19	23	22		4426	3	1	7		22	1,8599		0,1,4299	no	missense	SDK1	NM_152744.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1476/2214	4188896	1,13005	2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4426C>T	7.37:g.4188896C>T	ENSP00000385899:p.Arg1476Trp		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1476W	ENST00000404826.2	37	c.4426	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977856	0.53720	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.55234	0.53;0.53	5.06	3.03	0.35002	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.69771	0.3148	M	0.72118	2.19	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	T	0.71374	-0.4612	10	0.72032	D	0.01	.	13.4538	0.61187	0.3524:0.6476:0.0:0.0	.	1476;1476	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	1476	ENSP00000385899:R1476W;ENSP00000374182:R1476W	ENSP00000374182:R1476W	R	+	1	2	SDK1	4155422	1.000000	0.71417	1.000000	0.80357	0.476000	0.33039	3.672000	0.54583	0.358000	0.24211	0.563000	0.77884	CGG	SDK1	-	superfamily_Fibronectin_type3	ENSG00000146555		0.667	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	96	0	C	NM_152744		4188896	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	33.77	51	26	SNP	1.000	T	T	4188896	C	T	4188896	3	4	70	1	0	0	0	0	1	0	0	0	14013	759	27	1	4544	1	SDK1	7	4188896	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09		4188896	154949767	61	19027											
TXNDC3	51314	genome.wustl.edu	37	chr7	37907377	37907377	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgtatctcaaggaagtaAacacaatcctccctctgaag	14	10	7	10	0	2	1	1	1	2	0	5	2	4	2	2	1	1	3	2	1	7	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:37907377A>C	ENST00000199447.4	+	11	1067	c.695A>C	c.(694-696)aAa>aCa	p.K232T	NME8_ENST00000440017.1_Missense_Mutation_p.K232T|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	232	NDK 1.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CAAGGAAGTAAACACAATCCT	0.418																																																	0													139	125	130					7																	37907377		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.695A>C	7.37:g.37907377A>C	ENSP00000199447:p.Lys232Thr		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.K232T	ENST00000199447.4	37	c.695	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	7.985	0.752116	0.15778	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.44482	0.92;0.92	4.53	3.35	0.38373	.	1.160520	0.06392	N	0.717303	T	0.27663	0.0680	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.25759	0.063	T	0.30268	-0.9984	10	0.13108	T	0.6	-1.3044	8.6236	0.33875	0.8057:0.1943:0.0:0.0	.	232	Q8N427	TXND3_HUMAN	T	232	ENSP00000199447:K232T;ENSP00000397063:K232T	ENSP00000199447:K232T	K	+	2	0	TXNDC3	37873902	0.002000	0.14202	0.011000	0.14972	0.040000	0.13550	1.187000	0.32090	0.833000	0.34828	0.460000	0.39030	AAA	NME8	-	superfamily_Nucleoside_diP_kinase	ENSG00000086288		0.418	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	58	0	A	NM_016616		37907377	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.021	C	C	37907377	A	C	37907377	3	2	70	1	0	0	0	0	1	0	0	0	16847	14	1	4	729	4	TXNDC3	7	37907377	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	33718481	37907377	121231286	62	19028											
SRRM3	222183	genome.wustl.edu	37	chr7	75915131	75915131	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcccagctaccacagcCggagcagctctgagagcggg	9	4	13	15	2	1	1	0	1	1	1	2	3	2	2	4	2	6	3	4	2	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:75915131C>T	ENST00000326382.8	+	0	2139				SRRM3_ENST00000388802.4_Missense_Mutation_p.R645W|RN7SL212P_ENST00000583729.1_RNA	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						CTACCACAGCCGGAGCAGCTC	0.716																																																	0													5	9	8					7																	75915131		1357	3205	4562	SO:0001624	3_prime_UTR_variant	0			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.*138C>T	7.37:g.75915131C>T			A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R645W	ENST00000326382.8	37	c.1933		7	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150491	0.37923	.	.	ENSG00000177679	ENST00000388802	.	.	.	4.1	3.2	0.36748	.	0.000000	0.38720	N	0.001598	T	0.69967	0.3170	.	.	.	0.46478	D	0.999063	D	0.71674	0.998	P	0.62491	0.903	T	0.71935	-0.4442	8	0.66056	D	0.02	.	10.1537	0.42809	0.2006:0.7994:0.0:0.0	.	645	F5GYC8	.	W	645	.	ENSP00000373454:R645W	R	+	1	2	SRRM3	75753067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.006000	0.29847	0.911000	0.36747	0.462000	0.41574	CGG	SRRM3	-	NULL	ENSG00000177679		0.716	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	-	0	59	0	C	NM_001110199		75915131	1	tier1	-	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	37.84	46	28	SNP	1.000	T	T	75915131	C	T	75915131	1	4	70	0	1	0	0	0	0	0	0	0	15217	639	23	1		1	SRRM3	7	75915131	3'UTR	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	38007754	75915131	83223532	63	19029											
ZNHIT1	10467	genome.wustl.edu	37	chr7	100865991	100865991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgacaacttccaggatgaCccccacgcgggactccctca	11	6	8	16	2	1	2	1	2	0	0	3	4	3	4	4	2	1	0	4	2	2	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:100865991C>T	ENST00000305105.2	+	2	657	c.129C>T	c.(127-129)gaC>gaT	p.D43D	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	43					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCAGGATGACCCCCACGCGG	0.672																																																	0													55	55	55					7																	100865991		2203	4300	6503	SO:0001819	synonymous_variant	0			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.129C>T	7.37:g.100865991C>T			Q6IB12	Silent	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.D43	ENST00000305105.2	37	c.129	CCDS5716.1	7																																																																																			ZNHIT1	-	NULL	ENSG00000106400		0.672	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT1	HGNC	protein_coding	OTTHUMT00000347488.1	-	0	105	0	C	NM_006349		100865991	1	tier1	-	no_errors	ENST00000305105	ensembl	human	known	74_37	silent	34.83	58	31	SNP	1.000	T	T	100865991	C	T	100865991	2	4	70	1	0	0	0	0	0	0	0	1	18254	506	18	3		3	ZNHIT1	7	100865991	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	24950860	100865991	58272672	64	19030											
MLL5	55904	genome.wustl.edu	37	chr7	104753362	104753362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacccccaccaccccctcCgccgccaccttccagtgttt	6	7	5	23	2	0	0	0	0	0	0	2	0	2	0	10	0	1	2	10	0	0	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:104753362C>T	ENST00000311117.3	+	27	5704	c.5159C>T	c.(5158-5160)cCg>cTg	p.P1720L	KMT2E_ENST00000257745.4_Missense_Mutation_p.P1720L|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.P1678L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1720	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCACCCCCTCCGCCGCCACCT	0.552																																																	0													124	111	116					7																	104753362		2203	4300	6503	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5159C>T	7.37:g.104753362C>T	ENSP00000312379:p.Pro1720Leu		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.P1720L	ENST00000311117.3	37	c.5159	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	c	3.216	-0.160589	0.06502	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.95821	-3.69;-3.82;-3.69	3.79	1.7	0.24286	.	0.349959	0.20076	N	0.099750	D	0.88470	0.6445	N	0.19112	0.55	0.31646	N	0.647424	P;P	0.39920	0.695;0.472	B;B	0.33620	0.167;0.089	D	0.87509	0.2438	10	0.87932	D	0	.	9.431	0.38610	0.1622:0.6811:0.1567:0.0	.	1640;1720	F8W6H1;Q8IZD2	.;MLL5_HUMAN	L	1720;1678;1640;1720	ENSP00000312379:P1720L;ENSP00000335599:P1678L;ENSP00000257745:P1720L	ENSP00000257745:P1720L	P	+	2	0	MLL5	104540598	0.723000	0.28027	0.014000	0.15608	0.983000	0.72400	2.253000	0.43205	0.696000	0.31696	0.454000	0.30748	CCG	KMT2E	-	NULL	ENSG00000005483		0.552	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1		0	45	0	C			104753362	1			no_errors	ENST00000257745	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.274	T	T	104753362	C	T	104753362	3	4	70	1	0	0	0	0	1	0	0	0	9662	652	23	1	5257	1	MLL5	7	104753362	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	3887371	104753362	54385301	65	19031											
TSPAN33	340348	genome.wustl.edu	37	chr7	128807245	128807245	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctttccccaggcagtGatcaacactatgtgtggcca	10	10	8	13	0	2	1	1	1	1	0	3	1	3	1	3	2	2	1	3	2	3	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:128807245G>T	ENST00000289407.4	+	7	703	c.594G>T	c.(592-594)gtG>gtT	p.V198V	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	198					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CCCAGGCAGTGATCAACACTA	0.468																																																	0													168	166	167					7																	128807245		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.594G>T	7.37:g.128807245G>T				Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.V198	ENST00000289407.4	37	c.594	CCDS5810.1	7																																																																																			TSPAN33	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000158457		0.468	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN33	HGNC	protein_coding	OTTHUMT00000350983.1		0	45	0	G	NM_178562		128807245	1			no_errors	ENST00000289407	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.993	T	T	128807245	G	T	128807245	2	4	70	1	0	0	0	0	0	0	0	1	16696	1277	45	3		3	TSPAN33	7	128807245	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	24053883	128807245	30331418	66	19032											
CLEC5A	23601	genome.wustl.edu	37	chr7	141631584	141631584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgatggtaaattaagcCaataaaatacttctcagcat	16	12	5	8	1	2	0	2	0	1	0	3	1	2	0	1	1	3	2	1	1	7	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:141631584C>T	ENST00000546910.1	-	6	584	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	CLEC5A_ENST00000439991.1_Missense_Mutation_p.G26S|CLEC5A_ENST00000551012.2_Missense_Mutation_p.G107S|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.G107S	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	130	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TAAATTAAGCCAATAAAATAC	0.393																																					GBM(154;1592 2613 3360 42983)												0													176	161	166					7																	141631584		2203	4300	6503	SO:0001583	missense	0				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"C-type lectin domain containing"	2054	protein-coding gene	gene with protein product		604987	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.388G>A	7.37:g.141631584C>T	ENSP00000449999:p.Gly130Ser		Q52M11|Q9UKQ0	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G130S	ENST00000546910.1	37	c.388	CCDS5870.1	7	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292226	0.80914	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000439991;ENST00000438351	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.07	5.07	0.68467	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.64402	D	0.000014	D	0.86489	0.5945	H	0.95780	3.72	0.46586	D	0.999114	D;D;D;D	0.89917	1.0;0.999;0.998;0.999	D;D;D;D	0.97110	1.0;0.987;0.977;0.987	D	0.89673	0.3885	10	0.87932	D	0	-22.2919	14.1385	0.65303	0.0:1.0:0.0:0.0	.	107;107;129;130	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	S	130;107;26;107	ENSP00000449999:G130S;ENSP00000446890:G107S;ENSP00000395258:G26S;ENSP00000414897:G107S	ENSP00000265306:G130S	G	-	1	0	CLEC5A	141278053	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	3.148000	0.50647	2.789000	0.95967	0.655000	0.94253	GGC	CLEC5A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000258227		0.393	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC5A	HGNC	protein_coding	OTTHUMT00000347756.1	-	0	32	0	C	NM_013252		141631584	-1	tier1	-	no_errors	ENST00000546910	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T	T	141631584	C	T	141631584	3	4	70	1	0	0	0	0	1	0	0	0	3526	594	21	3	186	3	CLEC5A	7	141631584	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	12824339	141631584	17507079	67	19033											
PRSS1	5644	genome.wustl.edu	37	chr7	142457375	142457375	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttacctttgtggcagctgctCgtgagtatcatgccctgcct	5	14	10	12	1	1	1	1	1	0	0	2	1	1	1	3	1	5	4	3	1	2	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr7:142457375C>G	ENST00000311737.7	+	1	46	c.40C>G	c.(40-42)Ctt>Gtt	p.L14V	PRSS1_ENST00000486171.1_Splice_Site_p.L14V	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	14					cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGCAGCTGCTCGTGAGTATCA	0.557																																																	0													178	128	145					7																	142457375		2203	4300	6503	SO:0001630	splice_region_variant	0			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"Serine peptidases / Serine peptidases"	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.40+1C>G	7.37:g.142457375C>G			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L14V	ENST00000311737.7	37	c.40	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.545730	0.00142	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.93189	-3.18;-3.18	3.32	2.43	0.29744	Peptidase cysteine/serine, trypsin-like (1);	0.498441	0.20574	N	0.089679	D	0.83211	0.5205	N	0.13168	0.305	0.22378	N	0.999154	B	0.02656	0.0	B	0.01281	0.0	T	0.63765	-0.6563	10	0.02654	T	1	.	11.8777	0.52556	0.0:0.1794:0.8206:0.0	.	14	P07477	TRY1_HUMAN	V	14	ENSP00000417854:L14V;ENSP00000308720:L14V	ENSP00000308720:L14V	L	+	1	0	PRSS1	142136949	0.999000	0.42202	1.000000	0.80357	0.007000	0.05969	1.840000	0.39230	0.685000	0.31468	-0.528000	0.04320	CTT	PRSS1	-	superfamily_Trypsin-like_Pept_dom	ENSG00000204983		0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	HGNC	protein_coding	OTTHUMT00000352538.2	-	0	123	0	C		Missense_Mutation	142457375	1	tier1	-	no_errors	ENST00000311737	ensembl	human	known	74_37	missense	30.00	84	36	SNP	1.000	G	G	142457375	C	G	142457375	5	3	70	1	0	0	0	0	0	0	1	0	12656	898	31	5	42	5	PRSS1	7	142457375	Splice_Site	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	825791	142457375	16681288	68	19034											
FAM86B2	653333	genome.wustl.edu	37	chr8	12286498	12286498	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccaaggtcacctgttaatGaaggctgccgggttctcgat	8	10	11	12	2	2	1	1	1	1	0	3	2	2	1	4	3	1	3	4	3	3	2	rs552358938	byFrequency	TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr8:12286498G>C	ENST00000262365.4	-	5	467	c.468C>G	c.(466-468)ttC>ttG	p.F156L	FAM86B2_ENST00000393715.3_Nonsense_Mutation_p.S17*|FAM86B2_ENST00000309608.5_Missense_Mutation_p.F122L|FAM86B2_ENST00000351291.4_Missense_Mutation_p.F122L	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	156										endometrium(1)|kidney(2)	3						ACCTGTTAATGAAGGCTGCCG	0.612													g|||	392	0.0782748	0.0295	0.1297	5008	,	,		20523	0.0764		0.0885	False		,,,				2504	0.0992																0													1	1	1					8																	12286498		129	503	632	SO:0001583	missense	0				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.468C>G	8.37:g.12286498G>C	ENSP00000262365:p.Phe156Leu			Nonsense_Mutation	SNP	NULL	p.S17*	ENST00000262365.4	37	c.50	CCDS59092.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.35|18.35	3.603943|3.603943	0.66445|0.66445	.|.	.|.	ENSG00000145002|ENSG00000145002	ENST00000262365;ENST00000351291;ENST00000309608;ENST00000527331;ENST00000532480|ENST00000393715	T;T;T;T;T|.	0.22134|.	2.38;2.38;1.97;2.38;2.05|.	1.16|1.16	0.229|0.229	0.15368|0.15368	.|.	.|.	.|.	.|.	.|.	T|.	0.54711|.	0.1875|.	L|L	0.49640|0.49640	1.575|1.575	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.55605|.	0.972|.	P|.	0.60415|.	0.874|.	T|.	0.52518|.	-0.8565|.	9|.	0.45353|0.62326	T|D	0.12|0.03	.|.	5.4544|5.4544	0.16582|0.16582	0.216:0.0:0.784:0.0|0.216:0.0:0.784:0.0	.|.	156|.	P0C5J1|.	F86B2_HUMAN|.	L|X	156;122;122;122;122|17	ENSP00000262365:F156L;ENSP00000283479:F122L;ENSP00000311330:F122L;ENSP00000432491:F122L;ENSP00000436338:F122L|.	ENSP00000262365:F156L|ENSP00000377318:S17X	F|S	-|-	3|2	2|0	FAM86B2|FAM86B2	12330869|12330869	0.912000|0.912000	0.30974|0.30974	0.029000|0.029000	0.17559|0.17559	0.125000|0.125000	0.20455|0.20455	1.259000|1.259000	0.32956|0.32956	0.065000|0.065000	0.16485|0.16485	0.162000|0.162000	0.16502|0.16502	TTC|TCA	FAM86B2	-	NULL	ENSG00000145002		0.612	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	HGNC	protein_coding		-	0	20	0	G	XM_928336		12286498	-1	tier1	-	no_errors	ENST00000393715	ensembl	human	known	74_37	nonsense	40.00	3	2	SNP	0.829	C	C	12286498	G	C	12286498	3	2	70	1	0	0	0	0	1	0	0	0	5667	1281	45	5	540	5	FAM86B2	8	12286498	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		12286498	134077524	69	19035											
NPM2	10361	genome.wustl.edu	37	chr8	21892020	21892021	+	Splice_Site	INS	-	-	A																															cactgttttttggttcccagINSaaaaaaaagctggaaaaaga																										TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr8:21892020_21892021insA	ENST00000397940.1	+	7	1546_1547		c.e7-1		NPM2_ENST00000381530.5_Splice_Site|snoU13_ENST00000459495.1_RNA|NPM2_ENST00000289820.6_Splice_Site|NPM2_ENST00000521157.1_Splice_Site|NPM2_ENST00000518119.1_Splice_Site			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2						chromatin remodeling (GO:0006338)|embryo development (GO:0009790)|oocyte differentiation (GO:0009994)|positive regulation of catalytic activity (GO:0043085)|positive regulation of DNA replication (GO:0045740)|positive regulation of meiosis (GO:0045836)|protein homooligomerization (GO:0051260)|regulation of exit from mitosis (GO:0007096)|single fertilization (GO:0007338)	cytoplasmic chromatin (GO:0000789)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleic acid binding (GO:0003676)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TTGGTTCCCAGAAAAAAAAGCT	0.406																																																	0																																										SO:0001630	splice_region_variant	0			AY262113	CCDS6018.1, CCDS75703.1	8p21.3	2009-08-27	2009-08-27		ENSG00000158806	ENSG00000158806			7930	protein-coding gene	gene with protein product		608073				12714744	Standard	NM_182795		Approved		uc003xae.3	Q86SE8	OTTHUMG00000131129	ENST00000397940.1:c.532-1->A	8.37:g.21892028_21892028dupA			B3KSU0|D3DSQ8|Q6NVH6	Frame_Shift_Ins	INS	superfamily_Nucleoplasmin_core_dom	p.L181fs	ENST00000397940.1	37	c.533_532	CCDS6018.1	8																																																																																			NPM2	-	NULL	ENSG00000158806		0.406	NPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM2	HGNC	protein_coding	OTTHUMT00000253810.2		0	44	0	-	NM_182795	Intron	21892021	1	tier1		no_errors	ENST00000397940	ensembl	human	known	74_37	frame_shift_ins	75.68	9	28	INS	1.000:1.000	A	A	21892021	-	A	21892020	8	5	70	1	0	1	1	0	0	0	1	0	10627	956	33	0	553	0	NPM2	8	21892020	Splice_Site	INS	-	TCGA-L5-A4OX-01A-21D-A28B-09	9605522	21892020	124472002	70	19036											
PCMTD1	115294	genome.wustl.edu	37	chr8	52733121	52733121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgattacccacaaatacGtaagtgttaattctctgttt	12	15	6	8	1	1	1	0	1	1	0	2	1	1	1	1	0	3	4	1	0	5	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr8:52733121G>A	ENST00000360540.5	-	7	1270	c.864C>T	c.(862-864)taC>taT	p.Y288Y	PCMTD1_ENST00000544451.1_Silent_p.Y212Y|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.Y288Y	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	288						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CCACAAATACGTAAGTGTTAA	0.388																																																	0													192	190	191					8																	52733121		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.864C>T	8.37:g.52733121G>A			Q96FK9	Silent	SNP	pfam_PCMT	p.Y288	ENST00000360540.5	37	c.864	CCDS6148.1	8																																																																																			PCMTD1	-	NULL	ENSG00000168300		0.388	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2	-	0	136	0	G	NM_052937		52733121	-1	tier1	rs147382324	no_errors	ENST00000360540	ensembl	human	known	74_37	silent	5.24	181	10	SNP	0.744	A	A	52733121	G	A	52733121	2	1	70	1	0	0	0	0	0	0	0	1	11625	1140	40	1		1	PCMTD1	8	52733121	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	30841101	52733121	93630901	71	19037											
FAM150A	389658	genome.wustl.edu	37	chr8	53477670	53477670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccggccggccccggccgcGgggaggaaaagcaacggctt	7	3	17	14	6	0	0	0	0	0	0	1	2	1	2	5	7	2	2	5	7	3	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr8:53477670G>A	ENST00000358543.4	-	1	397	c.147C>T	c.(145-147)ccC>ccT	p.P49P	FAM150A_ENST00000523939.1_Silent_p.P49P	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	49						extracellular region (GO:0005576)				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				ccccggccgcggggAGGAAAA	0.736																																																	0													3	4	4					8																	53477670		1553	3142	4695	SO:0001819	synonymous_variant	0				CCDS6150.1	8q11.23	2007-12-18			ENSG00000196711	ENSG00000196711			33775	protein-coding gene	gene with protein product							Standard	NM_207413		Approved	UNQ9433	uc003xrd.3	Q6UXT8	OTTHUMG00000164256	ENST00000358543.4:c.147C>T	8.37:g.53477670G>A			B7ZMG9	Silent	SNP	NULL	p.P49	ENST00000358543.4	37	c.147	CCDS6150.1	8																																																																																			FAM150A	-	NULL	ENSG00000196711		0.736	FAM150A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM150A	HGNC	protein_coding	OTTHUMT00000377959.1	-	0	17	0	G	NM_207413		53477670	-1	tier1	-	no_errors	ENST00000358543	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.000	A	A	53477670	G	A	53477670	2	1	70	1	0	0	0	0	0	0	0	1	5475	1103	39	1		1	FAM150A	8	53477670	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	744549	53477670	92886352	72	19038											
PREX2	80243	genome.wustl.edu	37	chr8	68930087	68930087	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtttcatgcaggcattcTtacacagaatgaaccagtgt	11	13	8	9	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	3	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr8:68930087T>G	ENST00000288368.4	+	2	425	c.148T>G	c.(148-150)Tta>Gta	p.L50V	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	50	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L50V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCAGGCATTCTTACACAGAAT	0.378																																																	2	Substitution - Missense(2)	large_intestine(2)											125	105	112					8																	68930087		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.148T>G	8.37:g.68930087T>G	ENSP00000288368:p.Leu50Val		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L50V	ENST00000288368.4	37	c.148	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839866	0.71488	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.63417	-0.04	5.85	5.85	0.93711	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000007	T	0.71617	0.3361	L	0.56769	1.78	0.52099	D	0.999941	P;P	0.41232	0.683;0.743	P;P	0.53593	0.73;0.547	T	0.72465	-0.4285	10	0.52906	T	0.07	.	14.1993	0.65690	0.0:0.0:0.0:1.0	.	50;50	Q70Z35;Q70Z35-3	PREX2_HUMAN;.	V	50	ENSP00000288368:L50V	ENSP00000288368:L50V	L	+	1	2	PREX2	69092641	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.657000	0.46724	2.238000	0.73509	0.533000	0.62120	TTA	PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.378	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	52	0	T	NM_025170		68930087	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	9.09	80	8	SNP	1.000	G	G	68930087	T	G	68930087	3	3	70	1	0	0	0	0	1	0	0	0	12519	1606	56	4	154	4	PREX2	8	68930087	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	15452417	68930087	77433935	73	19039											
EIF2C2	27161	genome.wustl.edu	37	chr8	141595392	141595392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccttggatggggggcggcGgcgcaggaggtgcaagtgct	6	7	20	8	3	0	0	0	0	0	0	1	2	1	2	1	8	2	3	1	8	1	1	rs201542441		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr8:141595392G>A	ENST00000220592.5	-	2	153	c.41C>T	c.(40-42)cCg>cTg	p.P14L	AGO2_ENST00000519980.1_Missense_Mutation_p.P14L|AGO2_ENST00000517293.1_5'UTR	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	14					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GGGGGGCGGCGGCGCAGGAGG	0.587																																																	0													49	54	52					8																	141595392		2203	4300	6503	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"Argonaute/PIWI family"	3263	protein-coding gene	gene with protein product	"argonaute 2"	606229	"eukaryotic translation initiation factor 2C, 2"	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.41C>T	8.37:g.141595392G>A	ENSP00000220592:p.Pro14Leu		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.P14L	ENST00000220592.5	37	c.41	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264574	0.23136	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.04809	3.55;3.55	4.72	3.85	0.44370	.	0.292539	0.38272	N	0.001748	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40997	-0.9533	10	0.31617	T	0.26	-11.3974	8.0287	0.30453	0.2407:0.0:0.7593:0.0	.	14;14	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	L	14	ENSP00000220592:P14L;ENSP00000430176:P14L	ENSP00000220592:P14L	P	-	2	0	EIF2C2	141664574	0.912000	0.30974	0.007000	0.13788	0.967000	0.64934	5.196000	0.65136	0.979000	0.38497	0.655000	0.94253	CCG	AGO2	-	NULL	ENSG00000123908		0.587	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO2	HGNC	protein_coding	OTTHUMT00000377866.4	-	0	89	0	G			141595392	-1	tier1	rs201542441	no_errors	ENST00000220592	ensembl	human	known	74_37	missense	59.65	46	68	SNP	0.022	A	A	141595392	G	A	141595392	3	1	70	1	0	0	0	0	1	0	0	0	5020	1116	39	1	2610	1	EIF2C2	8	141595392	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	72665305	141595392	4768630	74	19040											
TAF1L	138474	genome.wustl.edu	37	chr9	32631964	32631964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaatgacagctggttttCggactgtctcacagcgaaca	11	10	9	11	2	2	1	2	1	1	0	4	3	2	2	0	2	3	2	0	2	2	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:32631964C>T	ENST00000242310.4	-	1	3703	c.3614G>A	c.(3613-3615)cGa>cAa	p.R1205Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1205					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCTGGTTTTCGGACTGTCTC	0.423																																																	0													201	173	183					9																	32631964		2203	4298	6501	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3614G>A	9.37:g.32631964C>T	ENSP00000418379:p.Arg1205Gln		Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1205Q	ENST00000242310.4	37	c.3614	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096652	0.56075	.	.	ENSG00000122728	ENST00000242310	T	0.17691	2.26	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	M	0.64404	1.975	0.50171	D	0.999852	B	0.30727	0.292	B	0.26416	0.069	T	0.06481	-1.0824	10	0.66056	D	0.02	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1205	Q8IZX4	TAF1L_HUMAN	Q	1205	ENSP00000418379:R1205Q	ENSP00000418379:R1205Q	R	-	2	0	TAF1L	32621964	1.000000	0.71417	0.993000	0.49108	0.847000	0.48162	4.928000	0.63447	0.507000	0.28148	0.195000	0.17529	CGA	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.423	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0	68	0	C			32631964	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	28.57	45	18	SNP	1.000	T	T	32631964	C	T	32631964	3	4	70	1	0	0	0	0	1	0	0	0	15570	884	31	1	1870	1	TAF1L	9	32631964	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09		32631964	108581467	75	19041											
FBP2	8789	genome.wustl.edu	37	chr9	97329654	97329654	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcctttcttcttaatcttGacatctttttccaccaggac	7	19	3	12	0	4	1	0	1	4	0	6	2	6	2	3	1	0	0	3	1	1	7			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:97329654G>C	ENST00000375337.3	-	5	669	c.603C>G	c.(601-603)gtC>gtG	p.V201V	PCAT7_ENST00000452148.2_RNA	NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	201					carbohydrate metabolic process (GO:0005975)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TCTTAATCTTGACATCTTTTT	0.438																																																	0													140	143	142					9																	97329654		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10812	CCDS6711.1	9q22.3	2012-08-13			ENSG00000130957	ENSG00000130957	3.1.3.11		3607	protein-coding gene	gene with protein product		603027				9678974	Standard	NM_003837		Approved		uc004auv.3	O00757	OTTHUMG00000020269	ENST00000375337.3:c.603C>G	9.37:g.97329654G>C			Q17R39|Q6FI53	Silent	SNP	pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase	p.V201	ENST00000375337.3	37	c.603	CCDS6711.1	9																																																																																			FBP2	-	pfam_FBPase_class-1/SBPase,prints_FBPtase	ENSG00000130957		0.438	FBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBP2	HGNC	protein_coding	OTTHUMT00000053189.1	-	0	99	0	G	NM_003837		97329654	-1	tier1	-	no_errors	ENST00000375337	ensembl	human	known	74_37	silent	30.69	70	31	SNP	1.000	C	C	97329654	G	C	97329654	2	2	70	1	0	0	0	0	0	0	0	1	5728	1277	45	5		5	FBP2	9	97329654	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	64697690	97329654	43883777	76	19042											
GABBR2	9568	genome.wustl.edu	37	chr9	101340352	101340352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacccttttgcgttgtcGcactgggaagcaacacatag	10	11	9	11	2	1	0	1	0	0	0	2	1	1	1	1	1	4	3	1	1	4	5	rs145095054	byFrequency	TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:101340352G>A	ENST00000259455.2	-	2	783	c.324C>T	c.(322-324)tgC>tgT	p.C108C		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	108					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTGCGTTGTCGCACTGGGAAG	0.463																																																	0										2,4404	4.2+/-10.8	0,2,2201	133	120	125		324	0.9	1	9	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	GABBR2	NM_005458.7		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		108/942	101340352	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.324C>T	9.37:g.101340352G>A			O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.C108	ENST00000259455.2	37	c.324	CCDS6736.1	9																																																																																			GABBR2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000136928		0.463	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	-	0	69	0	G			101340352	-1	tier1	rs145095054	no_errors	ENST00000259455	ensembl	human	known	74_37	silent	20.00	52	13	SNP	1.000	A	A	101340352	G	A	101340352	2	1	70	1	0	0	0	0	0	0	0	1	6180	1079	38	1		1	GABBR2	9	101340352	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	4010698	101340352	39873079	77	19043											
AKNA	80709	genome.wustl.edu	37	chr9	117130813	117130813	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacaagaccttggtcccCtggggcaccattcccgtgtg	8	8	12	13	1	0	1	0	0	0	1	2	2	2	2	5	4	0	1	5	4	2	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:117130813C>A	ENST00000307564.4	-	5	1640	c.1479G>T	c.(1477-1479)caG>caT	p.Q493H	AKNA_ENST00000374088.3_Missense_Mutation_p.Q493H|AKNA_ENST00000223791.3_De_novo_Start_OutOfFrame|AKNA_ENST00000312033.3_Missense_Mutation_p.Q493H|AKNA_ENST00000374075.5_Missense_Mutation_p.Q412H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	493					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCTTGGTCCCCTGGGGCACCA	0.662																																																	0													84	58	66					9																	117130813		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1479G>T	9.37:g.117130813C>A	ENSP00000303769:p.Gln493His		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.Q493H	ENST00000307564.4	37	c.1479	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691031	0.30052	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.34667	2.6;2.6;2.6;1.35	4.87	0.459	0.16678	.	0.290468	0.28921	N	0.013706	T	0.23846	0.0577	L	0.43152	1.355	0.80722	D	1	P;P	0.41784	0.649;0.762	B;B	0.36464	0.112;0.225	T	0.02676	-1.1125	10	0.33940	T	0.23	-12.0866	7.4912	0.27462	0.1186:0.586:0.0:0.2954	.	493;412	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	H	493;334;493;412;493	ENSP00000303769:Q493H;ENSP00000363201:Q493H;ENSP00000363188:Q412H;ENSP00000309222:Q493H	ENSP00000303769:Q493H	Q	-	3	2	AKNA	116170634	0.087000	0.21565	0.972000	0.41901	0.469000	0.32828	-0.518000	0.06267	0.009000	0.14813	-0.797000	0.03246	CAG	AKNA	-	NULL	ENSG00000106948		0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0	35	0	C	NM_030767		117130813	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.870	A	A	117130813	C	A	117130813	3	1	70	1	0	0	0	0	1	0	0	0	463	680	24	3	2912	3	AKNA	9	117130813	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	15790461	117130813	24082618	78	19044											
TNC	3371	genome.wustl.edu	37	chr9	117825202	117825202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtcatatacctgtgaCgacctctacagcaaggggtc	10	8	13	10	1	2	1	1	1	1	0	3	3	2	2	2	4	3	1	2	4	4	3	rs145446426		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:117825202C>T	ENST00000350763.4	-	13	4438	c.4027G>A	c.(4027-4029)Gtc>Atc	p.V1343I	TNC_ENST00000542877.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.V1343I|TNC_ENST00000535648.1_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000346706.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1343	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATACCTGTGACGACCTCTACA	0.552																																																	0								C	ILE/VAL	0,4406		0,0,2203	36	32	33		4027	1.4	1	9	dbSNP_134	33	2,8598	2.2+/-6.3	0,2,4298	no	missense	TNC	NM_002160.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1343/2202	117825202	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4027G>A	9.37:g.117825202C>T	ENSP00000265131:p.Val1343Ile		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.V1343I	ENST00000350763.4	37	c.4027	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	c	1.254	-0.617607	0.03663	0.0	2.33E-4	ENSG00000041982	ENST00000350763;ENST00000423613	T;T	0.04454	3.62;3.62	5.16	1.42	0.22433	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.716164	0.14203	N	0.334580	T	0.02727	0.0082	N	0.19112	0.55	0.80722	D	1	B;B	0.15141	0.012;0.0	B;B	0.09377	0.004;0.0	T	0.47368	-0.9123	10	0.15499	T	0.54	.	4.1831	0.10385	0.1481:0.1656:0.0:0.6863	.	1343;1343	E9PC84;P24821	.;TENA_HUMAN	I	1343	ENSP00000265131:V1343I;ENSP00000411406:V1343I	ENSP00000265131:V1343I	V	-	1	0	TNC	116865023	0.033000	0.19621	0.979000	0.43373	0.168000	0.22595	0.532000	0.23067	0.043000	0.15746	-0.285000	0.09966	GTC	TNC	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000041982		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	72	0	C	NM_002160		117825202	-1	tier1	rs145446426	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	10.00	81	9	SNP	1.000	T	T	117825202	C	T	117825202	3	4	70	1	0	0	0	0	1	0	0	0	16317	536	19	1	2642	1	TNC	9	117825202	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	694389	117825202	23388229	79	19045											
TNC	3371	genome.wustl.edu	37	chr9	117849341	117849341	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccctggtcattgcagtcGctggggcaagccagctggct	5	10	14	12	1	1	0	1	0	0	0	2	0	1	0	2	4	4	5	2	4	1	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:117849341G>A	ENST00000350763.4	-	3	1080	c.669C>T	c.(667-669)agC>agT	p.S223S	TNC_ENST00000542877.1_Silent_p.S223S|TNC_ENST00000340094.3_Silent_p.S223S|TNC_ENST00000423613.2_Silent_p.S223S|TNC_ENST00000535648.1_Silent_p.S223S|TNC_ENST00000341037.4_Silent_p.S223S|TNC_ENST00000537320.1_Silent_p.S223S|TNC_ENST00000345230.3_Silent_p.S223S|TNC_ENST00000346706.3_Silent_p.S223S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	223	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATTGCAGTCGCTGGGGCAAG	0.612																																																	0													87	73	77					9																	117849341		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.669C>T	9.37:g.117849341G>A			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.S223	ENST00000350763.4	37	c.669	CCDS6811.1	9																																																																																			TNC	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000041982		0.612	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	49	0	G	NM_002160		117849341	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	silent	22.22	42	12	SNP	0.002	A	A	117849341	G	A	117849341	2	1	70	1	0	0	0	0	0	0	0	1	16317	1078	38	1		1	TNC	9	117849341	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	24139	117849341	23364090	80	19046											
DBC1	1620	genome.wustl.edu	37	chr9	121930240	121930240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgatgaactgctcgctccGctccgagtccacgttctgtg	5	11	11	14	4	1	2	0	2	1	0	5	3	4	2	3	0	2	5	3	0	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:121930240G>A	ENST00000265922.3	-	8	1869	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	470					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											TGCTCGCTCCGCTCCGAGTCC	0.587																																																	0													153	124	134					9																	121930240		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1408C>T	9.37:g.121930240G>A	ENSP00000265922:p.Arg470Trp		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R470W	ENST00000265922.3	37	c.1408	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590979	0.66219	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.56776	0.44	5.55	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	P	0.61940	0.896	T	0.64101	-0.6486	10	0.59425	D	0.04	-24.9049	15.5132	0.75802	0.0:0.0:0.8606:0.1394	.	470	O60477	DBC1_HUMAN	W	470	ENSP00000265922:R470W	ENSP00000265922:R470W	R	-	1	2	DBC1	120970061	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.837000	0.55820	1.270000	0.44297	0.655000	0.94253	CGG	BRINP1	-	NULL	ENSG00000078725		0.587	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	36	0	G	NM_014618		121930240	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	56.76	16	21	SNP	1.000	A	A	121930240	G	A	121930240	3	1	70	1	0	0	0	0	1	0	0	0	4256	1086	38	1	881	1	DBC1	9	121930240	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	4080899	121930240	19283191	81	19047											
SDCCAG3	10807	genome.wustl.edu	37	chr9	139299575	139299575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttctgctccacctgctGaaccaccgactccaggtcgt	7	9	9	16	2	1	1	0	1	1	0	4	2	3	1	5	2	3	3	5	2	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr9:139299575G>T	ENST00000357365.3	-	7	1102	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	SDCCAG3_ENST00000371725.3_Missense_Mutation_p.Q252K|SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000298537.7_Missense_Mutation_p.Q302K	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	325						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCACCTGCTGAACCACCGAC	0.532																																																	0													99	101	100					9																	139299575		1980	4159	6139	SO:0001583	missense	0			AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.973C>A	9.37:g.139299575G>T	ENSP00000349929:p.Gln325Lys		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	NULL	p.Q325K	ENST00000357365.3	37	c.973	CCDS43904.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.83|18.83	3.707876|3.707876	0.68615|0.68615	.|.	.|.	ENSG00000165689|ENSG00000165689	ENST00000417512|ENST00000357365;ENST00000298537;ENST00000371725	.|T;T;T	.|0.75154	.|1.91;-0.91;1.91	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.137350	.|0.49305	.|D	.|0.000148	D|D	0.83083|0.83083	0.5177|0.5177	M|M	0.72894|0.72894	2.215|2.215	0.48762|0.48762	D|D	0.999704|0.999704	.|D;D;D	.|0.62365	.|0.991;0.984;0.991	.|P;P;P	.|0.58820	.|0.846;0.846;0.846	D|D	0.85372|0.85372	0.1114|0.1114	5|10	.|0.59425	.|D	.|0.04	-23.343|-23.343	16.6255|16.6255	0.84969|0.84969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|252;302;325	.|Q96C92-4;Q96C92-2;Q96C92	.|.;.;SDCG3_HUMAN	L|K	65|325;302;252	.|ENSP00000349929:Q325K;ENSP00000298537:Q302K;ENSP00000360790:Q252K	.|ENSP00000298537:Q302K	F|Q	-|-	3|1	2|0	SDCCAG3|SDCCAG3	138419396|138419396	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.310000|0.310000	0.27922|0.27922	5.924000|5.924000	0.70054|0.70054	2.218000|2.218000	0.71995|0.71995	0.563000|0.563000	0.77884|0.77884	TTC|CAG	SDCCAG3	-	NULL	ENSG00000165689		0.532	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SDCCAG3	HGNC	protein_coding	OTTHUMT00000055060.2	-	0	52	0	G	NM_006643		139299575	-1	tier1	-	no_errors	ENST00000357365	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.997	T	T	139299575	G	T	139299575	3	4	70	1	0	0	0	0	1	0	0	0	14003	1299	45	3	350	3	SDCCAG3	9	139299575	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	17369335	139299575	1913856	82	19048											
CAMK1D	57118	genome.wustl.edu	37	chr10	12858285	12858285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgatggagaaggaccCgaataaaagatacacgtgtg	16	6	12	7	2	0	3	0	1	0	2	0	7	0	4	2	2	2	0	2	2	6	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr10:12858285C>A	ENST00000378847.3	+	8	1128	c.791C>A	c.(790-792)cCg>cAg	p.P264Q	CAMK1D_ENST00000378845.1_Missense_Mutation_p.P264Q	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAGAAGGACCCGAATAAAAGA	0.502																																																	0													84	76	79					10																	12858285		2203	4300	6503	SO:0001583	missense	0			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.791C>A	10.37:g.12858285C>A	ENSP00000368124:p.Pro264Gln		B0YIY0|Q9HD31	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P264Q	ENST00000378847.3	37	c.791	CCDS7091.1	10	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653996	0.88056	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.56611	0.45;0.45	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052742	0.85682	D	0.000000	T	0.75510	0.3859	M	0.86573	2.825	0.80722	D	1	D;D	0.61080	0.982;0.989	D;D	0.69654	0.965;0.934	T	0.75280	-0.3373	10	0.35671	T	0.21	-11.1196	17.4922	0.87707	0.0:1.0:0.0:0.0	.	264;264	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	Q	264	ENSP00000368124:P264Q;ENSP00000368122:P264Q	ENSP00000368122:P264Q	P	+	2	0	CAMK1D	12898291	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	5.837000	0.69381	2.724000	0.93272	0.561000	0.74099	CCG	CAMK1D	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183049		0.502	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	-	0	47	0	C	NM_020397		12858285	1	tier1	-	no_errors	ENST00000378847	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.999	A	A	12858285	C	A	12858285	3	1	70	1	0	0	0	0	1	0	0	0	2604	652	23	2	821	2	CAMK1D	10	12858285	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09		12858285	122676462	83	19049											
CDH23	64072	genome.wustl.edu	37	chr10	73501677	73501677	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagggcaccccaaccctgtCggtgagcgatgggggtggcc	6	5	17	13	3	0	1	0	1	0	0	1	3	0	1	4	5	2	1	4	5	1	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr10:73501677C>T	ENST00000224721.6	+	37	4864	c.4859C>T	c.(4858-4860)tCg>tTg	p.S1620L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1615	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.		V -> M (in dbSNP:rs41281330). {ECO:0000269|PubMed:12075507}.		calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCAACCCTGTCGGTGAGCGAT	0.672																																																	0													12	14	13					10																	73501677		2107	4220	6327	SO:0001630	splice_region_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4860+1C>T	10.37:g.73501677C>T			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1620L	ENST00000224721.6	37	c.4859		10	.	.	.	.	.	.	.	.	.	.	C	35	5.492715	0.96339	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	5.09	5.09	0.68999	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.73992	0.3658	L	0.46947	1.48	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.953	T	0.71087	-0.4694	9	0.31617	T	0.26	.	18.52	0.90948	0.0:1.0:0.0:0.0	.	435;1615	E7ERT0;Q9H251	.;CAD23_HUMAN	L	1620;1615;1618;435	.	ENSP00000224721:S1620L	S	+	2	0	CDH23	73171683	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.698000	0.84413	2.378000	0.81104	0.655000	0.94253	TCG	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.672	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0	37	0	C	NM_052836	Missense_Mutation	73501677	1	tier1	-	no_errors	ENST00000224721	ensembl	human	putative	74_37	missense	37.50	20	12	SNP	1.000	T	T	73501677	C	T	73501677	5	4	70	1	0	0	0	0	0	0	1	0	3115	898	31	1	5335	1	CDH23	10	73501677	Splice_Site	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	60643392	73501677	62033070	84	19050											
KRTAP5-1	387264	genome.wustl.edu	37	chr11	1605880	1605882	+	In_Frame_Del	DEL	GCC	GCC	-																															ccggagccacagcccccacaGccggagccacaacccccctt																								rs199544345		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:1605880_1605882delGCC	ENST00000382171.2	-	1	631_633	c.598_600delGGC	c.(598-600)ggcdel	p.G200del	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	200	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCCCACAGCCGGAGCCACAA	0.665																																																	0																																										SO:0001651	inframe_deletion	0			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"Keratin associated proteins"	23596	protein-coding gene	gene with protein product		148022	"keratin, cuticle, ultrahigh sulphur 1-like"	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.598_600delGGC	11.37:g.1605880_1605882delGCC	ENSP00000371606:p.Gly200del			In_Frame_Del	DEL	NULL	p.G200in_frame_del	ENST00000382171.2	37	c.600_598	CCDS31330.1	11																																																																																			KRTAP5-1	-	NULL	ENSG00000205869		0.665	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-1	HGNC	protein_coding	OTTHUMT00000127922.1		0	80	0	GCC	NM_001005922		1605882	-1			no_errors	ENST00000382171	ensembl	human	known	74_37	in_frame_del	7.32	76	6	DEL	0.351:0.343:0.000	0	-	1605882	GCC	-	1605880	7	5	70	1	0	1	0	1	0	0	0	0	8586	958	34	0	240	0	KRTAP5-1	11	1605880	In_Frame_Del	DEL	GCC	TCGA-L5-A4OX-01A-21D-A28B-09		1605880	133400636	85	19051											
OR51M1	390059	genome.wustl.edu	37	chr11	5410768	5410768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcccctttttctttatgtAcatggttgccatctcaggca	7	16	6	12	0	2	0	1	0	2	0	4	0	3	0	3	2	2	3	3	2	2	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:5410768A>G	ENST00000328611.3	+	1	162	c.140A>G	c.(139-141)tAc>tGc	p.Y47C	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	47					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTTTATGTACATGGTTGCC	0.428																																																	0													174	160	165					11																	5410768		1922	4136	6058	SO:0001583	missense	0			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.140A>G	11.37:g.5410768A>G	ENSP00000333196:p.Tyr47Cys		Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y47C	ENST00000328611.3	37	c.140	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653644	0.29425	.	.	ENSG00000184698	ENST00000328611	T	0.08807	3.05	5.01	5.01	0.66863	.	0.000000	0.31323	U	0.007859	T	0.28134	0.0694	H	0.95850	3.73	0.39066	D	0.960613	P	0.42375	0.778	P	0.45195	0.473	T	0.48186	-0.9057	10	0.87932	D	0	.	13.6825	0.62493	1.0:0.0:0.0:0.0	.	36	Q9H341	O51M1_HUMAN	C	47	ENSP00000333196:Y47C	ENSP00000333196:Y47C	Y	+	2	0	OR51M1	5367344	0.995000	0.38212	0.997000	0.53966	0.021000	0.10359	3.338000	0.52128	2.101000	0.63845	0.528000	0.53228	TAC	OR51M1	-	prints_GPCR_Rhodpsn	ENSG00000184698		0.428	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	-	0	70	0	A	NM_001004756		5410768	1	tier1	-	no_errors	ENST00000328611	ensembl	human	known	74_37	missense	37.97	49	30	SNP	0.999	G	G	5410768	A	G	5410768	3	3	70	1	0	0	0	0	1	0	0	0	11142	391	14	4	142	4	OR51M1	11	5410768	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	3804888	5410768	129595748	86	19052											
CNGA4	1262	genome.wustl.edu	37	chr11	6265529	6265529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggcagactcgagagtggCcaatgcccgaggacctggct	9	6	15	11	2	0	2	0	0	0	2	1	5	0	3	3	4	1	2	3	4	1	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:6265529C>T	ENST00000379936.2	+	6	1733	c.1618C>T	c.(1618-1620)Cca>Tca	p.P540S		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	540					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCGAGAGTGGCCAATGCCCGA	0.602																																																	0													54	56	55					11																	6265529		2201	4296	6497	SO:0001583	missense	0			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2152	protein-coding gene	gene with protein product		609472	"cyclic nucleotide gated channel beta 2"	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1618C>T	11.37:g.6265529C>T	ENSP00000369268:p.Pro540Ser			Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P540S	ENST00000379936.2	37	c.1618	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693481	0.48202	.	.	ENSG00000132259	ENST00000379936	D	0.97303	-4.33	5.28	5.28	0.74379	.	0.272836	0.31392	N	0.007726	D	0.88880	0.6557	N	0.08118	0	0.28507	N	0.913712	P	0.34662	0.462	B	0.28553	0.091	T	0.81805	-0.0764	10	0.09590	T	0.72	.	9.0903	0.36607	0.1633:0.679:0.1576:0.0	.	540	Q8IV77	CNGA4_HUMAN	S	540	ENSP00000369268:P540S	ENSP00000369268:P540S	P	+	1	0	CNGA4	6222105	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	2.559000	0.45888	2.763000	0.94921	0.632000	0.83419	CCA	CNGA4	-	NULL	ENSG00000132259		0.602	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	-	0	52	0	C	NM_001037329		6265529	1	tier1	-	no_errors	ENST00000379936	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.995	T	T	6265529	C	T	6265529	3	4	70	1	0	0	0	0	1	0	0	0	3606	739	26	3	1640	3	CNGA4	11	6265529	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	854761	6265529	128740987	87	19053											
LUZP2	338645	genome.wustl.edu	37	chr11	24998138	24998138	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctcttattttacaggCgcagcagcttactgatctgg	8	16	8	9	1	2	1	0	1	2	0	3	1	2	1	0	2	4	3	0	2	4	6	rs572470818		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:24998138C>T	ENST00000336930.6	+	8	590	c.524C>T	c.(523-525)gCg>gTg	p.A175V	LUZP2_ENST00000533227.1_Splice_Site_p.A89V			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	175	Leucine-zipper.					extracellular region (GO:0005576)		p.A175G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATTTTACAGGCGCAGCAGCTT	0.358																																																	1	Substitution - Missense(1)	ovary(1)											55	61	59					11																	24998138		2202	4299	6501	SO:0001630	splice_region_variant	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.523-1C>T	11.37:g.24998138C>T			A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	NULL	p.A175V	ENST00000336930.6	37	c.524	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673419	0.67928	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.26067	1.76;1.97;1.76	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	T	0.41465	0.1160	L	0.32530	0.975	0.37226	D	0.905467	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.44636	-0.9315	10	0.66056	D	0.02	-7.9555	16.4555	0.84011	0.0:1.0:0.0:0.0	.	89;175	E9PN53;Q86TE4	.;LUZP2_HUMAN	V	175;133;89	ENSP00000336817:A175V;ENSP00000437032:A133V;ENSP00000432952:A89V	ENSP00000336817:A175V	A	+	2	0	LUZP2	24954714	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	4.066000	0.57520	2.540000	0.85666	0.650000	0.86243	GCG	LUZP2	-	NULL	ENSG00000187398		0.358	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0	75	0	C	NM_001009909	Missense_Mutation	24998138	1	tier1	-	no_errors	ENST00000336930	ensembl	human	known	74_37	missense	28.57	50	20	SNP	1.000	T	T	24998138	C	T	24998138	5	4	70	1	0	0	0	0	0	0	1	0	9122	782	27	1	554	1	LUZP2	11	24998138	Splice_Site	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	18732609	24998138	110008378	88	19054											
OR4C3	256144	genome.wustl.edu	37	chr11	48346896	48346896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctcattttttgggaggtgTtgagatcattctgctcacag	8	15	11	7	0	4	1	3	1	1	1	4	3	4	2	0	2	2	3	0	2	0	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:48346896T>G	ENST00000319856.4	+	1	425	c.404T>G	c.(403-405)gTt>gGt	p.V135G		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTGGGAGGTGTTGAGATCATT	0.483																																																	0													259	243	249					11																	48346896		2201	4298	6499	SO:0001583	missense	0			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.404T>G	11.37:g.48346896T>G	ENSP00000321419:p.Val135Gly		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V135G	ENST00000319856.4	37	c.404	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959648	0.34565	.	.	ENSG00000176547	ENST00000319856	T	0.01185	5.21	5.78	-5.09	0.02920	GPCR, rhodopsin-like superfamily (1);	1.881030	0.02539	N	0.094430	T	0.01353	0.0044	L	0.31578	0.945	0.09310	N	1	B	0.19706	0.038	B	0.23150	0.044	T	0.48115	-0.9063	10	0.87932	D	0	.	9.7621	0.40539	0.0:0.264:0.0992:0.6368	.	108	Q8NH37	OR4C3_HUMAN	G	135	ENSP00000321419:V135G	ENSP00000321419:V135G	V	+	2	0	OR4C3	48303472	0.000000	0.05858	0.000000	0.03702	0.900000	0.52787	-0.977000	0.03782	-0.914000	0.03827	0.391000	0.25812	GTT	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176547		0.483	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	-	0	145	0	T	NM_001004702		48346896	1	tier1	-	no_errors	ENST00000319856	ensembl	human	known	74_37	missense	17.81	120	26	SNP	0.000	G	G	48346896	T	G	48346896	3	3	70	1	0	0	0	0	1	0	0	0	11089	1725	60	4	406	4	OR4C3	11	48346896	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	23348758	48346896	86659620	89	19055											
OR8H3	390152	genome.wustl.edu	37	chr11	55890583	55890583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacttgcgtctctcatctCttgggagtcaccatcttcta	6	16	6	13	1	7	0	2	0	5	0	9	1	7	1	1	1	2	0	1	1	2	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:55890583C>T	ENST00000313472.3	+	1	735	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCTCTCATCTCTTGGGAGTCA	0.388																																																	0													116	111	113					11																	55890583		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.735C>T	11.37:g.55890583C>T			Q6IFB7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L245	ENST00000313472.3	37	c.735	CCDS31519.1	11																																																																																			OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181761		0.388	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	60	0	C	NM_001005201		55890583	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	silent	25.88	63	22	SNP	0.003	T	T	55890583	C	T	55890583	2	4	70	1	0	0	0	0	0	0	0	1	11278	900	32	3		3	OR8H3	11	55890583	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	7543687	55890583	79115933	90	19056											
OR5B2	390190	genome.wustl.edu	37	chr11	58189836	58189836	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgccttctcaacactttcTtgaatgcattctggacttct	7	18	5	11	0	4	1	1	1	4	0	5	2	4	2	1	1	3	1	1	1	2	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:58189836T>G	ENST00000302581.2	-	1	950	c.899A>C	c.(898-900)aAg>aCg	p.K300T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAACACTTTCTTGAATGCATT	0.393																																																	0													64	63	64					11																	58189836		2201	4295	6496	SO:0001583	missense	0			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.899A>C	11.37:g.58189836T>G	ENSP00000303076:p.Lys300Thr		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K300T	ENST00000302581.2	37	c.899	CCDS31550.1	11	.	.	.	.	.	.	.	.	.	.	t	8.928	0.962771	0.18583	.	.	ENSG00000172365	ENST00000302581	T	0.42131	0.98	3.5	-5.19	0.02832	.	.	.	.	.	T	0.34832	0.0911	M	0.79475	2.455	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.47484	-0.9114	9	0.52906	T	0.07	.	1.6232	0.02717	0.1326:0.3066:0.1348:0.426	.	300	Q96R09	OR5B2_HUMAN	T	300	ENSP00000303076:K300T	ENSP00000303076:K300T	K	-	2	0	OR5B2	57946412	0.000000	0.05858	0.219000	0.23793	0.118000	0.20060	-1.942000	0.01541	-0.649000	0.05430	-0.361000	0.07541	AAG	OR5B2	-	NULL	ENSG00000172365		0.393	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B2	HGNC	protein_coding	OTTHUMT00000394887.2	-	0	51	0	T	NM_001005566		58189836	-1	tier1	-	no_errors	ENST00000302581	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.005	G	G	58189836	T	G	58189836	3	3	70	1	0	0	0	0	1	0	0	0	11189	1609	56	4	34	4	OR5B2	11	58189836	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	2299253	58189836	76816680	91	19057											
C11orf20	25858	genome.wustl.edu	37	chr11	64068305	64068305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagacccgcgggtggcaCagcccggggcggggctcgtt	6	4	18	13	5	0	1	0	0	0	1	1	1	0	1	2	6	2	4	2	6	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:64068305C>T	ENST00000328404.6	+	2	218	c.198C>T	c.(196-198)caC>caT	p.H66H	TEX40_ENST00000539943.1_Silent_p.H24H|RP11-783K16.10_ENST00000539086.1_RNA	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40	66					cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											GCGGGTGGCACAGCCCGGGGC	0.682											OREG0021050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													8	10	9					11																	64068305		1965	4081	6046	SO:0001819	synonymous_variant	0					11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 20"	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820	ENST00000328404.6:c.198C>T	11.37:g.64068305C>T		1073		Silent	SNP	NULL	p.H66	ENST00000328404.6	37	c.198		11																																																																																			TEX40	-	NULL	ENSG00000219435		0.682	TEX40-201	KNOWN	basic|appris_principal	protein_coding	TEX40	HGNC	protein_coding		-	0	33	0	C	NM_001039496		64068305	1	tier1	-	no_errors	ENST00000328404	ensembl	human	known	74_37	silent	15.91	37	7	SNP	0.002	T	T	64068305	C	T	64068305	2	4	70	1	0	0	0	0	0	0	0	1	1639	477	17	3		3	C11orf20	11	64068305	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	5878469	64068305	70938211	92	19058											
EXPH5	23086	genome.wustl.edu	37	chr11	108382046	108382046	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctctgaagcatcaatgaAgtatgcagggtttcactttg	10	15	9	7	0	3	2	2	2	1	0	4	2	3	2	0	1	2	4	0	1	4	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:108382046A>T	ENST00000265843.4	-	6	4298	c.4188T>A	c.(4186-4188)acT>acA	p.T1396T	EXPH5_ENST00000428840.1_Silent_p.T1320T|EXPH5_ENST00000525344.1_Silent_p.T1389T|EXPH5_ENST00000443411.1_Silent_p.T1208T|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1396					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCATCAATGAAGTATGCAGGG	0.358																																																	0													84	84	84					11																	108382046		2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4188T>A	11.37:g.108382046A>T			Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.T1396	ENST00000265843.4	37	c.4188	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.358	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1		0	19	0	A	NM_015065		108382046	-1			no_errors	ENST00000265843	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.000	T	T	108382046	A	T	108382046	2	4	70	1	0	0	0	0	0	0	0	1	5338	59	3	5		5	EXPH5	11	108382046	Silent	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	44313741	108382046	26624470	93	19059											
OR10G7	390265	genome.wustl.edu	37	chr11	123909177	123909177	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgggcggtgcgtcacAgaagtagtgctggatctggt	8	9	17	7	2	2	1	1	0	1	1	2	3	2	3	0	5	2	2	0	5	2	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:123909177A>T	ENST00000330487.5	-	1	540	c.532T>A	c.(532-534)Tgt>Agt	p.C178S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGTGCGTCACAGAAGTAGTGC	0.547																																																	0													204	198	200					11																	123909177		2200	4296	6496	SO:0001583	missense	0			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.532T>A	11.37:g.123909177A>T	ENSP00000329689:p.Cys178Ser		Q6IFE8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C178S	ENST00000330487.5	37	c.532	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892721	0.72524	.	.	ENSG00000182634	ENST00000330487	T	0.62364	0.03	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	D	0.84759	0.5543	H	0.97214	3.96	0.47183	D	0.999348	D	0.89917	1.0	D	0.91635	0.999	D	0.88826	0.3302	10	0.87932	D	0	.	11.6893	0.51505	1.0:0.0:0.0:0.0	.	178	Q8NGN6	O10G7_HUMAN	S	178	ENSP00000329689:C178S	ENSP00000329689:C178S	C	-	1	0	OR10G7	123414387	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	4.525000	0.60559	1.490000	0.48466	0.374000	0.22700	TGT	OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000182634		0.547	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	-	0	235	0	A	NM_001004463		123909177	-1	tier1	-	no_errors	ENST00000330487	ensembl	human	known	74_37	missense	31.05	151	68	SNP	1.000	T	T	123909177	A	T	123909177	3	4	70	1	0	0	0	0	1	0	0	0	10941	188	7	5	407	5	OR10G7	11	123909177	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	15527131	123909177	11097339	94	19060											
SIAE	54414	genome.wustl.edu	37	chr11	124530643	124530643	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgttgtgccatcacttCgaaaggtcctccaggcttca	8	12	9	12	1	3	0	2	0	1	0	6	1	5	0	3	2	1	2	3	2	1	3	rs375087861		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:124530643C>A	ENST00000263593.3	-	3	458	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	SIAE_ENST00000545756.1_Nonsense_Mutation_p.E61*			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	96					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)	p.E96K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GCCATCACTTCGAAAGGTCCT	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											208	199	202					11																	124530643		2201	4299	6500	SO:0001587	stop_gained	0			AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"sialic acid-specific acetylesterase II"	610079	"Ysg2 homolog (mouse)"	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.286G>T	11.37:g.124530643C>A	ENSP00000263593:p.Glu96*		B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Nonsense_Mutation	SNP	pfam_DUF303_acetylest	p.E96*	ENST00000263593.3	37	c.286	CCDS8449.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.688842	0.96784	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	.	.	.	5.94	3.77	0.43336	.	0.593501	0.18116	N	0.151200	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-16.6786	5.1604	0.15058	0.1625:0.6164:0.0:0.221	.	.	.	.	X	96;61	.	ENSP00000263593:E96X	E	-	1	0	SIAE	124035853	0.001000	0.12720	0.903000	0.35520	0.936000	0.57629	-0.032000	0.12266	1.522000	0.49001	0.591000	0.81541	GAA	SIAE	-	NULL	ENSG00000110013		0.438	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAE	HGNC	protein_coding	OTTHUMT00000387070.1	-	0	51	0	C	NM_170601		124530643	-1	tier1	-	no_errors	ENST00000263593	ensembl	human	known	74_37	nonsense	33.33	42	21	SNP	0.342	A	A	124530643	C	A	124530643	4	1	70	1	0	0	0	0	0	1	0	0	14343	893	31	2	1317	2	SIAE	11	124530643	Nonsense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	621466	124530643	10475873	95	19061											
SNX19	399979	genome.wustl.edu	37	chr11	130780030	130780030	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctccggaatggcacagagTtgctgcaaaagtaaaacaca	16	7	9	9	1	1	1	0	0	1	1	2	2	1	2	1	2	3	5	1	2	5	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr11:130780030T>G	ENST00000265909.4	-	4	2486	c.1917A>C	c.(1915-1917)caA>caC	p.Q639H	SNX19_ENST00000533214.1_Missense_Mutation_p.Q639H|SNX19_ENST00000545537.1_5'UTR|SNX19_ENST00000534726.1_5'Flank|SNX19_ENST00000528555.1_Missense_Mutation_p.Q19H|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.Q82H|SNX19_ENST00000530356.1_Missense_Mutation_p.Q19H	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	639	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TGGCACAGAGTTGCTGCAAAA	0.463																																																	0													91	87	88					11																	130780030		2201	4297	6498	SO:0001583	missense	0			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"Sorting nexins"	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.1917A>C	11.37:g.130780030T>G	ENSP00000265909:p.Gln639His		E9PKB9|Q8IV55	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.Q639H	ENST00000265909.4	37	c.1917	CCDS31721.1	11	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156702	0.78114	.	.	ENSG00000120451	ENST00000265909;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.9	5.9	0.94986	Phox homologous domain (5);	0.147342	0.64402	D	0.000006	T	0.48223	0.1488	N	0.25245	0.725	0.80722	D	1	P;P;D	0.53312	0.887;0.929;0.959	B;P;P	0.59825	0.395;0.721;0.864	T	0.47983	-0.9074	10	0.49607	T	0.09	-16.3247	16.3317	0.83023	0.0:0.0:0.0:1.0	.	82;639;639	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	H	639;19;19;82;639	ENSP00000265909:Q639H;ENSP00000435122:Q19H;ENSP00000432307:Q19H;ENSP00000443480:Q82H;ENSP00000435390:Q639H	ENSP00000265909:Q639H	Q	-	3	2	SNX19	130285240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.685000	0.54678	2.264000	0.75181	0.533000	0.62120	CAA	SNX19	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000120451		0.463	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	-	0	59	0	T	NM_014758		130780030	-1	tier1	-	no_errors	ENST00000265909	ensembl	human	known	74_37	missense	35.48	40	22	SNP	1.000	G	G	130780030	T	G	130780030	3	3	70	1	0	0	0	0	1	0	0	0	14935	1722	60	4	1093	4	SNX19	11	130780030	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	6249387	130780030	4226486	96	19062											
BCL2L14	79370	genome.wustl.edu	37	chr12	12232486	12232486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcccaatccagtgagaagGccataaaccttggcaagaaa	16	7	8	10	0	0	2	0	1	0	2	2	3	2	2	4	2	1	1	4	2	6	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:12232486G>A	ENST00000308721.5	+	2	453	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	BCL2L14_ENST00000396367.1_Missense_Mutation_p.A83T|BCL2L14_ENST00000266434.4_Missense_Mutation_p.A83T|BCL2L14_ENST00000589718.1_Missense_Mutation_p.A83T|BCL2L14_ENST00000396369.1_Missense_Mutation_p.A83T|BCL2L14_ENST00000586576.1_Missense_Mutation_p.A116T	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	83					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CAGTGAGAAGGCCATAAACCT	0.493																																																	0													61	61	61					12																	12232486		2203	4300	6503	SO:0001583	missense	0			AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.247G>A	12.37:g.12232486G>A	ENSP00000309132:p.Ala83Thr		A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	pfscan_Bcl2-like	p.A83T	ENST00000308721.5	37	c.247	CCDS8645.1	12	.	.	.	.	.	.	.	.	.	.	G	2.483	-0.319204	0.05386	.	.	ENSG00000121380	ENST00000461264;ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	.	.	.	3.87	-7.75	0.01236	.	1.772080	0.03020	N	0.150591	T	0.17831	0.0428	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.13407	0.009;0.002	T	0.14144	-1.0483	8	.	.	.	0.5374	1.738	0.02946	0.3439:0.1849:0.3177:0.1535	.	83;83	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	T	86;83;83;83;83	.	.	A	+	1	0	BCL2L14	12123753	0.000000	0.05858	0.000000	0.03702	0.696000	0.40369	-4.189000	0.00277	-3.688000	0.00121	-0.256000	0.11100	GCC	BCL2L14	-	NULL	ENSG00000121380		0.493	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L14	HGNC	protein_coding	OTTHUMT00000355994.3	-	0	34	0	G	NM_030766		12232486	1	tier1	-	no_errors	ENST00000308721	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.000	A	A	12232486	G	A	12232486	3	1	70	1	0	0	0	0	1	0	0	0	1373	1203	42	3	249	3	BCL2L14	12	12232486	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		12232486	121619409	97	19063											
GYS2	2998	genome.wustl.edu	37	chr12	21727109	21727109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtagaaatcaatatttGctgcacagagatacctccca	13	11	8	9	0	1	2	1	0	0	2	2	3	2	2	2	1	3	4	2	1	5	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:21727109G>T	ENST00000261195.2	-	4	901	c.647C>A	c.(646-648)gCa>gAa	p.A216E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	216					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCAATATTTGCTGCACAGAG	0.423																																					Colon(149;9 1820 3690 10544 50424)												0													176	154	161					12																	21727109		2203	4300	6503	SO:0001583	missense	0				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"Glycosyltransferase group 1 domain containing"	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.647C>A	12.37:g.21727109G>T	ENSP00000261195:p.Ala216Glu		A0AVD8	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1	p.A216E	ENST00000261195.2	37	c.647	CCDS8690.1	12	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165863	0.78339	.	.	ENSG00000111713	ENST00000261195	T	0.66815	-0.23	5.19	5.19	0.71726	.	0.057590	0.64402	D	0.000001	T	0.76471	0.3992	L	0.54323	1.7	0.47737	D	0.999505	P	0.42785	0.79	P	0.58820	0.846	T	0.77683	-0.2496	10	0.87932	D	0	-24.6	14.5117	0.67791	0.0:0.1463:0.8537:0.0	.	216	P54840	GYS2_HUMAN	E	216	ENSP00000261195:A216E	ENSP00000261195:A216E	A	-	2	0	GYS2	21618376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.551000	0.60740	2.709000	0.92574	0.591000	0.81541	GCA	GYS2	-	pfam_Glycogen_synth	ENSG00000111713		0.423	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS2	HGNC	protein_coding	OTTHUMT00000402396.1	-	0	66	0	G	NM_021957		21727109	-1	tier1	-	no_errors	ENST00000261195	ensembl	human	known	74_37	missense	36.99	46	27	SNP	1.000	T	T	21727109	G	T	21727109	3	4	70	1	0	0	0	0	1	0	0	0	6940	1319	46	3	1516	3	GYS2	12	21727109	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	9494623	21727109	112124786	98	19064											
FAR2	55711	genome.wustl.edu	37	chr12	29469890	29469890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaatgcggtcagccacCgggcccctgccattatctat	8	9	10	14	2	2	0	1	0	1	0	2	1	2	1	5	3	3	0	5	3	3	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:29469890C>T	ENST00000536681.3	+	9	1318	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.R358W|FAR2_ENST00000547116.1_Missense_Mutation_p.R261W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	358					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GGTCAGCCACCGGGCCCCTGC	0.498																																																	0													132	138	136					12																	29469890		2203	4300	6503	SO:0001583	missense	0			AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	25531	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 10E, member 2"		"male sterility domain containing 1"	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1072C>T	12.37:g.29469890C>T	ENSP00000443291:p.Arg358Trp		F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like	p.R358W	ENST00000536681.3	37	c.1072	CCDS8717.1	12	.	.	.	.	.	.	.	.	.	.	C	12.58	1.981825	0.34942	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	T;T;T	0.32023	1.88;1.88;1.47	4.44	-0.628	0.11537	.	0.299368	0.30101	N	0.010408	T	0.08626	0.0214	N	0.01576	-0.805	0.36785	D	0.884559	B	0.10296	0.003	B	0.10450	0.005	T	0.09079	-1.0691	10	0.37606	T	0.19	-12.1739	3.6128	0.08066	0.2388:0.4367:0.0:0.3244	.	358	Q96K12	FACR2_HUMAN	W	358;358;261	ENSP00000443291:R358W;ENSP00000182377:R358W;ENSP00000449349:R261W	ENSP00000182377:R358W	R	+	1	2	FAR2	29361157	1.000000	0.71417	0.276000	0.24689	0.957000	0.61999	1.620000	0.36976	0.047000	0.15862	0.467000	0.42956	CGG	FAR2	-	pfam_FAR	ENSG00000064763		0.498	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAR2	HGNC	protein_coding	OTTHUMT00000403479.2	-	0	45	0	C	NM_018099		29469890	1	tier1	-	no_errors	ENST00000182377	ensembl	human	known	74_37	missense	33.33	42	21	SNP	0.994	T	T	29469890	C	T	29469890	3	4	70	1	0	0	0	0	1	0	0	0	5697	643	23	1	1102	1	FAR2	12	29469890	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	7742781	29469890	104382005	99	19065											
NR4A1	3164	genome.wustl.edu	37	chr12	52448812	52448812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacggccttcccaggtttgGcacccacttctccacacctt	6	11	6	18	1	1	0	0	0	1	0	3	0	2	0	5	3	1	2	5	3	1	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:52448812G>C	ENST00000243050.1	+	3	1014	c.700G>C	c.(700-702)Gca>Cca	p.A234P	NR4A1_ENST00000550082.1_Missense_Mutation_p.A247P|NR4A1_ENST00000360284.3_Missense_Mutation_p.A247P|NR4A1_ENST00000394824.2_Missense_Mutation_p.A234P|NR4A1_ENST00000545748.1_Missense_Mutation_p.A288P|NR4A1_ENST00000394825.1_Missense_Mutation_p.A234P|NR4A1_ENST00000548232.1_Missense_Mutation_p.A234P	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	234					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCCAGGTTTGGCACCCACTTC	0.647																																																	0													85	95	91					12																	52448812		2203	4300	6503	SO:0001583	missense	0			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"Nuclear hormone receptors"	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.700G>C	12.37:g.52448812G>C	ENSP00000243050:p.Ala234Pro		B4DML7|Q15627|Q53Y00|Q6IBU8	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A288P	ENST00000243050.1	37	c.862	CCDS8818.1	12	.	.	.	.	.	.	.	.	.	.	G	9.992	1.231057	0.22626	.	.	ENSG00000123358	ENST00000360284;ENST00000545748;ENST00000550082;ENST00000243050;ENST00000394825;ENST00000394824;ENST00000548232	D;D;D;D;D;D;D	0.93133	-3.14;-3.16;-3.14;-3.13;-3.13;-3.13;-3.17	4.93	4.03	0.46877	.	1.627630	0.02623	N	0.103450	D	0.87038	0.6078	N	0.08118	0	0.39471	D	0.967722	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.0;0.002;0.001	T	0.70970	-0.4727	10	0.45353	T	0.12	.	8.7785	0.34776	0.0:0.2739:0.5729:0.1532	.	247;234;234	B4DML7;P22736;Q15627	.;NR4A1_HUMAN;.	P	247;288;247;234;234;234;234	ENSP00000353427:A247P;ENSP00000440864:A288P;ENSP00000449539:A247P;ENSP00000243050:A234P;ENSP00000378302:A234P;ENSP00000378301:A234P;ENSP00000449587:A234P	ENSP00000243050:A234P	A	+	1	0	NR4A1	50735079	1.000000	0.71417	0.902000	0.35471	0.242000	0.25591	3.185000	0.50934	1.426000	0.47256	0.561000	0.74099	GCA	NR4A1	-	prints_Nuc_orp_HMR_rcpt	ENSG00000123358		0.647	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NR4A1	HGNC	protein_coding	OTTHUMT00000317922.2	-	0	58	0	G			52448812	1	tier1	-	no_errors	ENST00000545748	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.636	C	C	52448812	G	C	52448812	3	2	70	1	0	0	0	0	1	0	0	0	10671	1203	42	5	702	5	NR4A1	12	52448812	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	22978922	52448812	81403083	100	19066											
ERBB3	2065	genome.wustl.edu	37	chr12	56491645	56491645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctactcaagtcacccaGtcaggttcaggtggcagatt	9	10	11	11	1	4	1	4	0	0	1	4	1	4	1	1	3	2	3	1	3	2	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:56491645G>T	ENST00000267101.3	+	21	2977	c.2537G>T	c.(2536-2538)aGt>aTt	p.S846I	ERBB3_ENST00000553131.1_Missense_Mutation_p.S87I|ERBB3_ENST00000415288.2_Missense_Mutation_p.S787I|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000450146.2_Missense_Mutation_p.S203I	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	846	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.S846I(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AAGTCACCCAGTCAGGTTCAG	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											185	151	163					12																	56491645		2203	4300	6503	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2537G>T	12.37:g.56491645G>T	ENSP00000267101:p.Ser846Ile		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S846I	ENST00000267101.3	37	c.2537	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174093	0.78452	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000553131	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	5.87	5.87	0.94306	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.064574	0.64402	D	0.000005	T	0.47619	0.1455	N	0.16833	0.445	0.40655	D	0.982077	D	0.54397	0.966	P	0.47346	0.544	T	0.52571	-0.8558	10	0.62326	D	0.03	.	12.6639	0.56830	0.0764:0.0:0.9236:0.0	.	846	P21860	ERBB3_HUMAN	I	846;203;787;87	ENSP00000267101:S846I;ENSP00000399178:S203I;ENSP00000408340:S787I;ENSP00000449129:S87I	ENSP00000267101:S846I	S	+	2	0	ERBB3	54777912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.509000	0.53386	2.941000	0.99782	0.655000	0.94253	AGT	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000065361		0.502	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	-	0	43	0	G			56491645	1	tier1	-	no_errors	ENST00000267101	ensembl	human	known	74_37	missense	37.50	35	21	SNP	1.000	T	T	56491645	G	T	56491645	3	4	70	1	0	0	0	0	1	0	0	0	5224	1029	36	3	2750	3	ERBB3	12	56491645	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	4042833	56491645	77360250	101	19067											
USP15	9958	genome.wustl.edu	37	chr12	62749183	62749183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattattcggaacctggaaGaaacaatgaacagccaggcc	15	7	10	9	1	0	3	0	2	0	1	1	5	0	5	3	3	4	0	3	3	6	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:62749183G>A	ENST00000280377.5	+	8	900	c.842G>A	c.(841-843)aGa>aAa	p.R281K	USP15_ENST00000393654.3_Missense_Mutation_p.R256K|USP15_ENST00000353364.3_Missense_Mutation_p.R252K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	281					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAACCTGGAAGAAACAATGAA	0.363																																					Melanoma(181;615 2041 39364 49691 50001)												0													93	88	90					12																	62749183		2203	4300	6503	SO:0001583	missense	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.842G>A	12.37:g.62749183G>A	ENSP00000280377:p.Arg281Lys		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.R281K	ENST00000280377.5	37	c.842	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037192	0.75617	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.19532	2.14;2.15;2.14	5.6	5.6	0.85130	.	0.100701	0.64402	D	0.000003	T	0.17408	0.0418	N	0.22421	0.69	0.58432	D	0.999997	B;B	0.34161	0.439;0.42	B;B	0.34093	0.165;0.175	T	0.05068	-1.0908	9	.	.	.	-16.8722	19.6137	0.95619	0.0:0.0:1.0:0.0	.	281;252	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	K	252;281;256	ENSP00000258123:R252K;ENSP00000280377:R281K;ENSP00000377264:R256K	.	R	+	2	0	USP15	61035450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.916000	0.92745	2.650000	0.89964	0.557000	0.71058	AGA	USP15	-	NULL	ENSG00000135655		0.363	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	-	0	73	0	G	NM_006313		62749183	1	tier1	-	no_errors	ENST00000280377	ensembl	human	known	74_37	missense	34.78	45	24	SNP	1.000	A	A	62749183	G	A	62749183	3	1	70	1	0	0	0	0	1	0	0	0	17095	942	33	3	781	3	USP15	12	62749183	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	6257538	62749183	71102712	102	19068											
ACSS3	79611	genome.wustl.edu	37	chr12	81528635	81528635	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggtcaagcatggcatcaAgaaaggtgacactgtggtta	12	10	12	7	0	2	2	2	1	0	1	2	2	2	2	0	4	1	3	0	4	4	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:81528635A>C	ENST00000548058.1	+	3	1407	c.497A>C	c.(496-498)aAg>aCg	p.K166T	ACSS3_ENST00000261206.3_Missense_Mutation_p.K165T			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	166						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATGGCATCAAGAAAGGTGAC	0.428																																																	0													162	126	139					12																	81528635		2203	4300	6503	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.497A>C	12.37:g.81528635A>C	ENSP00000449535:p.Lys166Thr		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K166T	ENST00000548058.1	37	c.497	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	A	9.816	1.184473	0.21870	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	T;T;T	0.46819	0.86;0.86;0.86	5.83	3.46	0.39613	AMP-dependent synthetase/ligase (1);	0.515963	0.23144	N	0.051437	T	0.40979	0.1139	L	0.58925	1.835	0.45541	D	0.998493	B	0.24043	0.096	B	0.24701	0.055	T	0.16689	-1.0394	10	0.18710	T	0.47	-3.3549	9.9567	0.41671	0.8617:0.0:0.1383:0.0	.	166	Q9H6R3	ACSS3_HUMAN	T	58;166;165	ENSP00000447748:K58T;ENSP00000449535:K166T;ENSP00000261206:K165T	ENSP00000261206:K165T	K	+	2	0	ACSS3	80052766	0.999000	0.42202	0.967000	0.41034	0.923000	0.55619	1.303000	0.33470	0.998000	0.38996	0.460000	0.39030	AAG	ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.428	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	119	0	A	NM_024560		81528635	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	33.33	58	29	SNP	0.990	C	C	81528635	A	C	81528635	3	2	70	1	0	0	0	0	1	0	0	0	190	72	3	4	507	4	ACSS3	12	81528635	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	18779452	81528635	52323260	103	19069											
ATP2A2	488	genome.wustl.edu	37	chr12	110777326	110777326	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgctcctgaaggtgtcAttgacaggtgcacccacatt	9	10	12	10	0	1	2	1	2	0	0	2	2	2	2	2	3	2	2	2	3	1	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:110777326A>T	ENST00000539276.2	+	13	1670	c.1561A>T	c.(1561-1563)Att>Ttt	p.I521F	ATP2A2_ENST00000308664.6_Missense_Mutation_p.I521F|ATP2A2_ENST00000395494.2_Missense_Mutation_p.I494F			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	521					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGAAGGTGTCATTGACAGGTG	0.438																																																	0													58	55	56					12																	110777326		2203	4300	6503	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1561A>T	12.37:g.110777326A>T	ENSP00000440045:p.Ile521Phe		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.I521F	ENST00000539276.2	37	c.1561	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.943709|4.943709	0.92593|0.92593	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.83250	.|-1.7;-1.7;-1.7	5.85|5.85	5.85|5.85	0.93711|0.93711	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78953|0.78953	0.4365|0.4365	L|L	0.41492|0.41492	1.28|1.28	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.42010	.|0.717;0.38;0.768	.|B;B;B	.|0.39562	.|0.248;0.142;0.303	T|T	0.81892|0.81892	-0.0724|-0.0724	5|10	.|0.87932	.|D	.|0	.|.	16.2285|16.2285	0.82315|0.82315	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|494;521;521	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	L|F	411|521;494;521	.|ENSP00000311186:I521F;ENSP00000378872:I494F;ENSP00000440045:I521F	.|ENSP00000311186:I521F	H|I	+|+	2|1	0|0	ATP2A2|ATP2A2	109261709|109261709	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	5.061000|5.061000	0.64319|0.64319	2.235000|2.235000	0.73313|0.73313	0.460000|0.460000	0.39030|0.39030	CAT|ATT	ATP2A2	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000174437		0.438	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	-	0	46	0	A	NM_001681		110777326	1	tier1	-	no_errors	ENST00000539276	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	T	T	110777326	A	T	110777326	3	4	70	1	0	0	0	0	1	0	0	0	1138	217	8	5	1611	5	ATP2A2	12	110777326	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	29248691	110777326	23074569	104	19070											
ANAPC7	51434	genome.wustl.edu	37	chr12	110824211	110824211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctccagctctgaagtaCagatctgccaagcttcccaa	10	11	7	13	0	3	2	0	1	3	1	5	2	4	2	3	0	4	3	3	0	4	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:110824211C>T	ENST00000455511.3	-	6	840	c.840G>A	c.(838-840)ctG>ctA	p.L280L	ANAPC7_ENST00000450008.2_Silent_p.L280L|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTCTGAAGTACAGATCTGCCA	0.373																																																	0													237	236	237					12																	110824211		2203	4300	6503	SO:0001819	synonymous_variant	0			AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.840G>A	12.37:g.110824211C>T			Q96AC4|Q96GF4|Q9BU24|Q9NT16	Silent	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L280	ENST00000455511.3	37	c.840	CCDS9145.2	12																																																																																			ANAPC7	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000196510		0.373	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANAPC7	HGNC	protein_coding	OTTHUMT00000347075.3	-	0	75	0	C	NM_016238		110824211	-1	tier1	-	no_errors	ENST00000455511	ensembl	human	known	74_37	silent	16.67	50	10	SNP	1.000	T	T	110824211	C	T	110824211	2	4	70	1	0	0	0	0	0	0	0	1	606	465	17	3		3	ANAPC7	12	110824211	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	46885	110824211	23027684	105	19071											
RNFT2	84900	genome.wustl.edu	37	chr12	117187991	117187991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcggaggagggaggcgaCgagcagcctgggacgcccgc	8	2	18	13	5	0	0	0	0	0	0	1	6	0	4	2	5	2	1	2	5	0	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:117187991C>T	ENST00000257575.4	+	4	662	c.429C>T	c.(427-429)gaC>gaT	p.D143D	RNFT2_ENST00000407967.3_Silent_p.D143D|RNFT2_ENST00000319176.7_Silent_p.D143D|RNFT2_ENST00000392549.2_Silent_p.D143D			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	143						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGGGAGGCGACGAGCAGCCTG	0.697																																																	0													19	13	15					12																	117187991		2198	4293	6491	SO:0001819	synonymous_variant	0			AK027533	CCDS9180.2, CCDS44987.1	12q24.22	2013-01-09	2008-02-26	2008-02-26	ENSG00000135119	ENSG00000135119		"RING-type (C3HC4) zinc fingers"	25905	protein-coding gene	gene with protein product			"transmembrane protein 118"	TMEM118		12477932	Standard	NM_032814		Approved	FLJ14627	uc009zwn.3	Q96EX2	OTTHUMG00000150882	ENST00000257575.4:c.429C>T	12.37:g.117187991C>T			E9PAM7|Q96SU5	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D143	ENST00000257575.4	37	c.429	CCDS44987.1	12																																																																																			RNFT2	-	NULL	ENSG00000135119		0.697	RNFT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT2	HGNC	protein_coding	OTTHUMT00000320417.1	-	0	72	0	C	NM_032814		117187991	1	tier1	-	no_errors	ENST00000257575	ensembl	human	known	74_37	silent	29.63	38	16	SNP	0.891	T	T	117187991	C	T	117187991	2	4	70	1	0	0	0	0	0	0	0	1	13547	535	19	1		1	RNFT2	12	117187991	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	6363780	117187991	16663904	106	19072											
GOLGA3	2802	genome.wustl.edu	37	chr12	133398705	133398705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcttgctcggccgacgCgccgtccatggtcaggacga	6	7	13	15	6	2	0	1	0	1	0	4	3	3	1	4	3	1	1	4	3	0	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr12:133398705C>T	ENST00000450791.2	-	1	193	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A4T|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A4T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A4T|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A4T			Q08378	GOGA3_HUMAN	golgin A3	4					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCGGCCGACGCGCCGTCCATG	0.647																																																	0													29	31	30					12																	133398705		2203	4300	6503	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.10G>A	12.37:g.133398705C>T	ENSP00000410378:p.Ala4Thr		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.A4T	ENST00000450791.2	37	c.10	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701823	0.48307	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32753	1.88;1.88;1.88;1.44;1.44	5.6	1.27	0.21489	.	0.670329	0.14654	N	0.306394	T	0.20901	0.0503	L	0.44542	1.39	0.09310	N	1	B;B;B	0.25007	0.086;0.116;0.116	B;B;B	0.14023	0.01;0.008;0.008	T	0.17410	-1.0370	10	0.51188	T	0.08	.	4.1388	0.10183	0.2275:0.4976:0.0:0.2749	.	4;4;4	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	4	ENSP00000204726:A4T;ENSP00000410378:A4T;ENSP00000409303:A4T;ENSP00000442143:A4T;ENSP00000442603:A4T	ENSP00000204726:A4T	A	-	1	0	GOLGA3	131908778	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.605000	0.05661	0.304000	0.22809	0.561000	0.74099	GCG	GOLGA3	-	NULL	ENSG00000090615		0.647	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	40	0	C	NM_005895		133398705	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	31.25	33	15	SNP	0.000	T	T	133398705	C	T	133398705	3	4	70	1	0	0	0	0	1	0	0	0	6580	768	27	1	4716	1	GOLGA3	12	133398705	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	16210714	133398705	453190	107	19073											
NAA16	79612	genome.wustl.edu	37	chr13	41894803	41894803	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtttccttaacttaatagGttggcatgtatatggactct	9	18	8	6	0	1	0	0	0	1	0	2	1	2	1	1	3	1	4	1	3	5	8			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr13:41894803G>T	ENST00000379406.3	+	4	569	c.245G>T	c.(244-246)tGt>tTt	p.C82F	NAA16_ENST00000403412.3_Splice_Site_p.C82F|NAA16_ENST00000379367.3_Splice_Site_p.C82F	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	82					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AACTTAATAGGTTGGCATGTA	0.318																																																	0													74	76	76					13																	41894803		2203	4300	6503	SO:0001630	splice_region_variant	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.245-1G>T	13.37:g.41894803G>T			B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C82F	ENST00000379406.3	37	c.245	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173513	0.78452	.	.	ENSG00000172766	ENST00000379367;ENST00000379406;ENST00000403412	T;T;T	0.73469	0.68;0.68;-0.75	4.9	4.9	0.64082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	D	0.90150	0.6922	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	0.967;0.992;1.0	D;D;D	0.77557	0.911;0.956;0.99	D	0.92912	0.6348	9	.	.	.	.	18.2536	0.90012	0.0:0.0:1.0:0.0	.	82;82;82	Q6N069;Q6N069-4;Q6N069-5	NAA16_HUMAN;.;.	F	82	ENSP00000368674:C82F;ENSP00000368716:C82F;ENSP00000386103:C82F	.	C	+	2	0	NAA16	40792803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.010000	0.93611	2.533000	0.85409	0.655000	0.94253	TGT	NAA16	-	pfam_TPR_2,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000172766		0.318	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2		0	83	0	G	NM_018527	Missense_Mutation	41894803	1			no_errors	ENST00000379406	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	41894803	G	T	41894803	5	4	70	1	0	0	0	0	0	0	1	0	10157	1275	44	3	259	3	NAA16	13	41894803	Splice_Site	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		41894803	73275075	108	19074											
VPS36	51028	genome.wustl.edu	37	chr13	52997736	52997736	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcgagctcggtttactaaGcagtacacctccgtgagtga	9	10	10	12	3	0	2	0	2	0	0	3	3	1	2	3	1	4	4	3	1	3	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr13:52997736G>T	ENST00000378060.4	-	10	840	c.813C>A	c.(811-813)tgC>tgA	p.C271*		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	271					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		GGTTTACTAAGCAGTACACCT	0.318																																																	0													119	121	120					13																	52997736		2203	4300	6503	SO:0001587	stop_gained	0			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"chromosome 13 open reading frame 9", "vacuolar protein sorting 36 homolog (yeast)"	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.813C>A	13.37:g.52997736G>T	ENSP00000367299:p.Cys271*		A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Nonsense_Mutation	SNP	pfam_EAP30,pfam_VPS36_GLUE	p.C271*	ENST00000378060.4	37	c.813	CCDS9434.1	13	.	.	.	.	.	.	.	.	.	.	.	25.2	4.609243	0.87258	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.91	2.25	0.28309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2124	9.1347	0.36866	0.621:0.0:0.379:0.0	.	.	.	.	X	271	.	ENSP00000367299:C271X	C	-	3	2	VPS36	51895737	0.997000	0.39634	0.999000	0.59377	0.988000	0.76386	0.664000	0.25068	0.161000	0.19458	-0.302000	0.09304	TGC	VPS36	-	pfam_EAP30	ENSG00000136100		0.318	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS36	HGNC	protein_coding	OTTHUMT00000045059.3	-	0	27	0	G			52997736	-1	tier1	-	no_errors	ENST00000378060	ensembl	human	known	74_37	nonsense	13.79	25	4	SNP	1.000	T	T	52997736	G	T	52997736	4	4	70	1	0	0	0	0	0	1	0	0	17253	963	34	3	367	3	VPS36	13	52997736	Nonsense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	11102933	52997736	62172142	109	19075											
DIAPH3	81624	genome.wustl.edu	37	chr13	60554939	60554939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactacttactttcttgtaaAgttctgatgctttctcttca	9	19	4	9	0	4	1	1	1	3	0	5	1	4	1	0	0	4	3	0	0	5	8			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr13:60554939A>G	ENST00000400324.4	-	14	1755	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	DIAPH3_ENST00000400320.1_Missense_Mutation_p.L466P|DIAPH3_ENST00000267215.4_Missense_Mutation_p.L512P|DIAPH3_ENST00000377908.2_Missense_Mutation_p.L501P|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.L442P|DIAPH3_ENST00000400330.1_Missense_Mutation_p.L512P	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	512					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTTCTTGTAAAGTTCTGATGC	0.348																																																	0													124	119	120					13																	60554939		1815	4071	5886	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1535T>C	13.37:g.60554939A>G	ENSP00000383178:p.Leu512Pro		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.L512P	ENST00000400324.4	37	c.1535	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	A	16.11	3.030182	0.54790	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.77;-1.75;-1.74;-1.75	5.46	4.25	0.50352	.	0.295609	0.32161	N	0.006495	D	0.89097	0.6618	M	0.81112	2.525	0.41309	D	0.987095	D;D;P	0.55385	0.971;0.967;0.915	P;P;B	0.61800	0.894;0.694;0.314	D	0.89018	0.3433	10	0.66056	D	0.02	.	10.156	0.42823	0.8465:0.0:0.0:0.1535	.	249;249;512	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	P	512;512;501;466;442;501;442;466;512;249;512	ENSP00000383178:L512P;ENSP00000383184:L512P;ENSP00000367141:L501P;ENSP00000383173:L442P;ENSP00000383174:L466P;ENSP00000267215:L512P	ENSP00000267214:L249P	L	-	2	0	DIAPH3	59452940	0.999000	0.42202	0.696000	0.30242	0.751000	0.42716	4.306000	0.59117	0.860000	0.35481	0.383000	0.25322	CTT	DIAPH3	-	NULL	ENSG00000139734		0.348	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0	26	0	A	NM_001042517		60554939	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.801	G	G	60554939	A	G	60554939	3	3	70	1	0	0	0	0	1	0	0	0	4534	72	3	4	2126	4	DIAPH3	13	60554939	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	7557203	60554939	54614939	110	19076											
FSCB	84075	genome.wustl.edu	37	chr14	44974184	44974184	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagctggtggaggctgaacTtcagcgggggcctcctcagc	6	8	15	12	1	3	1	3	1	0	0	4	2	4	2	2	5	4	2	2	5	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr14:44974184T>G	ENST00000340446.4	-	1	2298	c.2007A>C	c.(2005-2007)gaA>gaC	p.E669D	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	669	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGCTGAACTTCAGCGGGGG	0.622																																																	0													12	15	14					14																	44974184		2185	4291	6476	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2007A>C	14.37:g.44974184T>G	ENSP00000344579:p.Glu669Asp		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.E669D	ENST00000340446.4	37	c.2007	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	T	11.88	1.770428	0.31320	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14266	2.52	3.57	-2.27	0.06846	.	.	.	.	.	T	0.10337	0.0253	L	0.54323	1.7	0.09310	N	1	P	0.44816	0.844	B	0.42319	0.383	T	0.18967	-1.0320	9	0.21014	T	0.42	-3.5828	1.036	0.01548	0.1544:0.3067:0.1573:0.3816	.	669	Q5H9T9	FSCB_HUMAN	D	669;562	ENSP00000344579:E669D	ENSP00000344579:E669D	E	-	3	2	FSCB	44043934	0.006000	0.16342	0.004000	0.12327	0.352000	0.29268	0.650000	0.24858	-0.417000	0.07461	0.352000	0.21897	GAA	FSCB	-	NULL	ENSG00000189139		0.622	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	-	0	141	0	T	NM_032135		44974184	-1	tier1	-	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	41.82	64	46	SNP	0.001	G	G	44974184	T	G	44974184	3	3	70	1	0	0	0	0	1	0	0	0	6090	1606	56	4	474	4	FSCB	14	44974184	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09		44974184	62375356	111	19077											
RPL10L	140801	genome.wustl.edu	37	chr14	47120380	47120380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcagggatgaggcacttcTtggccaccatgtcttcaaat	10	11	9	11	0	4	1	2	1	2	0	4	2	4	2	2	3	0	1	2	3	1	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr14:47120380T>C	ENST00000298283.3	-	1	648	c.560A>G	c.(559-561)aAg>aGg	p.K187R		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	187					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GAGGCACTTCTTGGCCACCAT	0.507																																																	0													97	92	94					14																	47120380		2203	4300	6503	SO:0001583	missense	0			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.560A>G	14.37:g.47120380T>C	ENSP00000298283:p.Lys187Arg		Q8IUD1	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.K187R	ENST00000298283.3	37	c.560	CCDS32071.1	14	.	.	.	.	.	.	.	.	.	.	T	6.449	0.450912	0.12223	.	.	ENSG00000165496	ENST00000298283	T	0.72505	-0.66	4.57	-2.3	0.06785	.	1.060260	0.07296	N	0.873259	T	0.52885	0.1762	N	0.16656	0.425	0.09310	N	0.999995	B	0.06786	0.001	B	0.13407	0.009	T	0.45396	-0.9264	10	0.59425	D	0.04	-2.1675	9.1049	0.36692	0.0:0.08:0.5456:0.3744	.	187	Q96L21	RL10L_HUMAN	R	187	ENSP00000298283:K187R	ENSP00000298283:K187R	K	-	2	0	RPL10L	46190130	0.730000	0.28100	0.008000	0.14137	0.013000	0.08279	1.271000	0.33098	-0.364000	0.08088	-0.316000	0.08728	AAG	RPL10L	-	pirsf_Ribosomal_L10e	ENSG00000165496		0.507	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10L	HGNC	protein_coding	OTTHUMT00000349819.1	-	0	64	0	T			47120380	-1	tier1	-	no_errors	ENST00000298283	ensembl	human	known	74_37	missense	25.29	65	22	SNP	0.188	C	C	47120380	T	C	47120380	3	2	70	1	0	0	0	0	1	0	0	0	13601	1609	56	4	88	4	RPL10L	14	47120380	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	2146196	47120380	60229160	112	19078											
MDGA2	161357	genome.wustl.edu	37	chr14	47351260	47351260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttaccactatatttgatCacacgaattgttgaatctcc	12	15	4	10	1	2	2	1	2	1	0	3	3	2	2	2	0	2	1	2	0	6	7			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr14:47351260C>T	ENST00000399232.2	-	11	2560	c.2196G>A	c.(2194-2196)gtG>gtA	p.V732V	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000426342.1_Silent_p.V503V|MDGA2_ENST00000439988.3_Silent_p.V801V|MDGA2_ENST00000357362.3_Silent_p.V503V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	732	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATATTTGATCACACGAATTG	0.308																																																	0													42	38	39					14																	47351260		1815	4075	5890	SO:0001819	synonymous_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2196G>A	14.37:g.47351260C>T			F6W3S7|J3KPX6	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.V801	ENST00000399232.2	37	c.2403		14																																																																																			MDGA2	-	superfamily_Fibronectin_type3	ENSG00000272781		0.308	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	31	0	C	NM_182830		47351260	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	13.51	32	5	SNP	1.000	T	T	47351260	C	T	47351260	2	4	70	1	0	0	0	0	0	0	0	1	9445	813	29	3		3	MDGA2	14	47351260	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	230880	47351260	59998280	113	19079											
AHNAK2	113146	genome.wustl.edu	37	chr14	105413989	105413989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgggggctgtcacttccGccttggggcctttcaggtcc	3	11	13	14	2	2	0	2	0	0	0	5	0	4	0	4	5	0	1	4	5	0	3	rs376661887		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr14:105413989G>A	ENST00000333244.5	-	7	7918	c.7799C>T	c.(7798-7800)gCg>gTg	p.A2600V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2600						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCACTTCCGCCTTGGGGCC	0.622																																																	0								G	VAL/ALA	0,3734		0,0,1867	124	136	132		7799	-6.8	0	14		132	1,8181		0,1,4090	no	missense	AHNAK2	NM_138420.2	64	0,1,5957	AA,AG,GG		0.0122,0.0,0.0084	benign	2600/5796	105413989	1,11915	1867	4091	5958	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7799C>T	14.37:g.105413989G>A	ENSP00000353114:p.Ala2600Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A2600V	ENST00000333244.5	37	c.7799	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	0.031	-1.337175	0.01287	0.0	1.22E-4	ENSG00000185567	ENST00000333244	T	0.00902	5.56	3.41	-6.82	0.01698	.	.	.	.	.	T	0.00875	0.0029	L	0.41710	1.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40327	-0.9569	9	0.28530	T	0.3	.	7.733	0.28797	0.413:0.2493:0.3378:0.0	.	2600	Q8IVF2	AHNK2_HUMAN	V	2600	ENSP00000353114:A2600V	ENSP00000353114:A2600V	A	-	2	0	AHNAK2	104485034	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.805000	0.04530	-1.779000	0.01280	-1.472000	0.01007	GCG	AHNAK2	-	NULL	ENSG00000185567		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	149	0	G	NM_138420		105413989	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	42.86	88	66	SNP	0.000	A	A	105413989	G	A	105413989	3	1	70	1	0	0	0	0	1	0	0	0	415	1087	38	1	9592	1	AHNAK2	14	105413989	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	58062729	105413989	1935551	114	19080											
SNURF	8926	genome.wustl.edu	37	chr15	25213158	25213158	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaactgaggcaggcattcTtagctgagacaccaagaggt	12	8	12	9	0	1	4	0	3	1	2	1	5	1	4	1	3	2	3	1	3	3	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr15:25213158T>G	ENST00000577949.1	+	3	253	c.190T>G	c.(190-192)Tta>Gta	p.L64V	SNRPN_ENST00000390687.4_5'UTR|SNURF_ENST00000338094.6_Missense_Mutation_p.L64V|SNURF_ENST00000551312.2_Missense_Mutation_p.L64V|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.L64V|SNRPN_ENST00000577565.1_5'UTR			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame	64						nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		GCAGGCATTCTTAGCTGAGAC	0.468																																																	0													117	106	110					15																	25213158		2203	4300	6503	SO:0001583	missense	0				CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000577949.1:c.190T>G	15.37:g.25213158T>G	ENSP00000463201:p.Leu64Val		A6NCW2	Missense_Mutation	SNP	pfam_SNURF	p.L64V	ENST00000577949.1	37	c.190	CCDS10016.1	15	.	.	.	.	.	.	.	.	.	.	T	13.95	2.390910	0.42410	.	.	ENSG00000214265	ENST00000338094;ENST00000338327	.	.	.	3.52	2.41	0.29592	.	.	.	.	.	T	0.49490	0.1560	.	.	.	0.25147	N	0.990457	P	0.51057	0.941	P	0.60415	0.874	T	0.27706	-1.0066	7	0.33940	T	0.23	-1.632	5.5149	0.16900	0.0:0.1262:0.0:0.8738	.	64	Q9Y675	SNURF_HUMAN	V	64	.	ENSP00000336543:L64V	L	+	1	2	SNURF	22764251	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.136000	0.31467	0.725000	0.32318	0.533000	0.62120	TTA	SNURF	-	pfam_SNURF	ENSG00000273173		0.468	SNURF-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SNURF	Uniprot_gn	protein_coding	OTTHUMT00000446300.1	-	0	82	0	T	NM_005678		25213158	1	tier1	-	no_errors	ENST00000338094	ensembl	human	known	74_37	missense	42.05	51	37	SNP	0.999	G	G	25213158	T	G	25213158	3	3	70	1	0	0	0	0	1	0	0	0	14923	1606	56	4	200	4	SNURF	15	25213158	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09		25213158	77318234	115	19081											
JMJD7-PLA2G4B	100137049	genome.wustl.edu	37	chr15	42136011	42136011	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacctgcaggaggatgaggTttgggggctgggctggatgg	7	8	21	5	0	0	2	0	1	0	1	0	5	0	5	1	8	1	4	1	8	0	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr15:42136011T>C	ENST00000452633.1	+	12	1231		c.e12+2		JMJD7-PLA2G4B_ENST00000342159.4_Splice_Site|JMJD7-PLA2G4B_ENST00000382448.4_Splice_Site|PLA2G4B_ENST00000458483.1_Splice_Site|PLA2G4B_ENST00000542534.2_Splice_Site			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAGGATGAGGTTTGGGGGCTG	0.652																																																	0													33	36	35					15																	42136011		2203	4300	6503	SO:0001630	splice_region_variant	0			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.879+2T>C	15.37:g.42136011T>C			B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Splice_Site	SNP	-	e16+2	ENST00000452633.1	37	c.1572+2	CCDS45241.1	15	.	.	.	.	.	.	.	.	.	.	t	10.77	1.442609	0.25987	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8663	0.63590	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	JMJD7-PLA2G4B;PLA2G4B	39923303	1.000000	0.71417	1.000000	0.80357	0.036000	0.12997	5.220000	0.65267	1.987000	0.57996	0.533000	0.62120	.	JMJD7-PLA2G4B	-	-	ENSG00000168970		0.652	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000345969.1	-	0	96	0	T	NM_001114633	Intron	42136011	1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	splice_site	6.67	84	6	SNP	1.000	C	C	42136011	T	C	42136011	5	2	70	1	0	0	0	0	0	0	1	0	7982	1739	60	4	1636	4	JMJD7-PLA2G4B	15	42136011	Splice_Site	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	16922853	42136011	60395381	116	19082											
RPLP1	6176	genome.wustl.edu	37	chr15	69745321	69745321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagctcgcctgcatctacTcggccctcattctgcacgac	6	9	8	18	4	3	0	1	0	2	0	5	2	3	0	3	1	4	3	3	1	1	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr15:69745321T>C	ENST00000260379.6	+	1	199	c.34T>C	c.(34-36)Tcg>Ccg	p.S12P	RPLP1_ENST00000357790.5_Missense_Mutation_p.S12P|RPLP1_ENST00000560274.1_Missense_Mutation_p.S12P	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	12					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			ovary(1)	1						CTGCATCTACTCGGCCCTCAT	0.692																																																	0													12	10	11					15																	69745321		2189	4278	6467	SO:0001583	missense	0				CCDS10233.1, CCDS10234.1	15q22	2011-07-29			ENSG00000137818	ENSG00000137818		"L ribosomal proteins"	10372	protein-coding gene	gene with protein product		180520					Standard	NM_001003		Approved	LP1	uc002asd.1	P05386	OTTHUMG00000133359	ENST00000260379.6:c.34T>C	15.37:g.69745321T>C	ENSP00000346037:p.Ser12Pro		A6NIB2	Missense_Mutation	SNP	pfam_Ribosomal_L10/L12	p.S12P	ENST00000260379.6	37	c.34	CCDS10233.1	15	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363308	0.61513	.	.	ENSG00000137818	ENST00000260379;ENST00000357790	.	.	.	4.67	4.67	0.58626	.	0.063404	0.64402	D	0.000004	T	0.61899	0.2384	M	0.85542	2.76	0.26966	N	0.965706	P;B	0.51791	0.948;0.03	P;B	0.51487	0.671;0.067	T	0.63102	-0.6712	9	0.87932	D	0	.	12.1136	0.53854	0.0:0.0:0.0:1.0	.	12;12	A6NIB2;P05386	.;RLA1_HUMAN	P	12	.	ENSP00000346037:S12P	S	+	1	0	RPLP1	67532375	1.000000	0.71417	0.998000	0.56505	0.375000	0.29983	2.797000	0.47877	1.956000	0.56807	0.455000	0.32223	TCG	RPLP1	-	NULL	ENSG00000137818		0.692	RPLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPLP1	HGNC	protein_coding	OTTHUMT00000257195.2	-	0	57	0	T	NM_001003		69745321	1	tier1	-	no_errors	ENST00000260379	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	C	C	69745321	T	C	69745321	3	2	70	1	0	0	0	0	1	0	0	0	13650	1551	54	4	36	4	RPLP1	15	69745321	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	27609310	69745321	32786071	117	19083											
EDC3	80153	genome.wustl.edu	37	chr15	74925058	74925058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccaatgtcgcacaaataGatacggcctgcgtgctcccc	10	8	9	14	3	0	1	0	0	0	1	2	1	1	1	4	1	4	2	4	1	4	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr15:74925058G>C	ENST00000315127.4	-	7	1603	c.1422C>G	c.(1420-1422)atC>atG	p.I474M	EDC3_ENST00000426797.3_Missense_Mutation_p.I474M|EDC3_ENST00000568176.1_Missense_Mutation_p.I474M	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	474	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CGCACAAATAGATACGGCCTG	0.567											OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													81	74	76					15																	74925058		2197	4296	6493	SO:0001583	missense	0			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.1422C>G	15.37:g.74925058G>C	ENSP00000320503:p.Ile474Met	1156	B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.I474M	ENST00000315127.4	37	c.1422	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860398	0.51482	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	T;T	0.46451	0.87;0.87	5.52	4.41	0.53225	YjeF-related protein, N-terminal (3);	0.222750	0.46145	D	0.000304	T	0.36908	0.0984	L	0.46157	1.445	0.30405	N	0.779623	B	0.25235	0.121	B	0.33846	0.171	T	0.41324	-0.9515	10	0.66056	D	0.02	-2.1355	6.6746	0.23087	0.0809:0.1766:0.6251:0.1174	.	474	Q96F86	EDC3_HUMAN	M	474	ENSP00000320503:I474M;ENSP00000401343:I474M	ENSP00000320503:I474M	I	-	3	3	EDC3	72712111	0.996000	0.38824	0.453000	0.27007	0.951000	0.60555	0.415000	0.21181	2.589000	0.87451	0.561000	0.74099	ATC	EDC3	-	superfamily_YjeF_N_dom	ENSG00000179151		0.567	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	-	0	59	0	G	NM_025083		74925058	-1	tier1	-	no_errors	ENST00000315127	ensembl	human	known	74_37	missense	40.00	33	22	SNP	0.996	C	C	74925058	G	C	74925058	3	2	70	1	0	0	0	0	1	0	0	0	4921	932	33	5	108	5	EDC3	15	74925058	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	5179737	74925058	27606334	118	19084											
CHRNA3	1136	genome.wustl.edu	37	chr15	78894371	78894371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgatggcccactcgcCgctctcccaatagtccttga	7	12	8	14	2	1	3	0	3	1	0	4	3	2	3	4	1	0	1	4	1	2	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr15:78894371C>T	ENST00000326828.5	-	5	997	c.613G>A	c.(613-615)Ggc>Agc	p.G205S	CHRNA3_ENST00000348639.3_Missense_Mutation_p.G205S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	205					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GCCCACTCGCCGCTCTCCCAA	0.517																																																	0													137	120	126					15																	78894371		2196	4293	6489	SO:0001583	missense	0				CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1957	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 3 (neuronal)"	118503	"cholinergic receptor, nicotinic, alpha polypeptide 3"			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.613G>A	15.37:g.78894371C>T	ENSP00000315602:p.Gly205Ser		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.G205S	ENST00000326828.5	37	c.613	CCDS10305.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006453	0.93287	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.79749	-1.3;-1.3	6.17	6.17	0.99709	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85767	0.5773	L	0.54863	1.705	0.80722	D	1	P;P	0.51791	0.887;0.948	P;P	0.57911	0.829;0.737	T	0.79631	-0.1723	10	0.17832	T	0.49	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	205;205	P32297;P32297-3	ACHA3_HUMAN;.	S	205;205;69	ENSP00000267951:G205S;ENSP00000315602:G205S	ENSP00000315602:G205S	G	-	1	0	CHRNA3	76681426	1.000000	0.71417	0.888000	0.34837	0.950000	0.60333	6.077000	0.71275	2.941000	0.99782	0.655000	0.94253	GGC	CHRNA3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000080644		0.517	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA3	HGNC	protein_coding	OTTHUMT00000290111.3	-	0	87	0	C			78894371	-1	tier1	-	no_errors	ENST00000326828	ensembl	human	known	74_37	missense	41.03	69	48	SNP	1.000	T	T	78894371	C	T	78894371	3	4	70	1	0	0	0	0	1	0	0	0	3391	652	23	1	997	1	CHRNA3	15	78894371	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	3969313	78894371	23637021	119	19085											
SOLH	6650	genome.wustl.edu	37	chr16	597228	597228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggacaaggacgaggaggaGaaggaggagcaggaggagga	16	0	22	3	1	0	1	0	0	0	1	0	12	0	9	0	9	1	1	0	9	2	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:597228G>A	ENST00000219611.2	+	4	753	c.390G>A	c.(388-390)gaG>gaA	p.E130E	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	130	Glu-rich.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										acgaggaggagaaggaggagc	0.706																																																	0													6	7	7					16																	597228		2102	4165	6267	SO:0001819	synonymous_variant	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"small optic lobes (Drosophila) homolog", "small optic lobes homolog (Drosophila)"	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.390G>A	16.37:g.597228G>A			B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E130	ENST00000219611.2	37	c.390	CCDS10410.1	16																																																																																			CAPN15	-	NULL	ENSG00000103326		0.706	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1		0	11	0	G	NM_005632		597228	1			no_errors	ENST00000219611	ensembl	human	known	74_37	silent	14.29	12	2	SNP	0.000	A	A	597228	G	A	597228	2	1	70	1	0	0	0	0	0	0	0	1	14970	933	33	3		3	SOLH	16	597228	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		597228	89757525	120	19086											
SRRM2	23524	genome.wustl.edu	37	chr16	2814390	2814390	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctttgactcttgatcagagCcagtcacaggcttctttgga	8	14	9	10	0	5	3	2	2	3	1	5	4	5	4	1	2	1	1	1	2	0	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:2814390C>T	ENST00000301740.8	+	11	4410	c.3861C>T	c.(3859-3861)agC>agT	p.S1287S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1287	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTGATCAGAGCCAGTCACAGG	0.438																																																	0													118	124	122					16																	2814390		2198	4300	6498	SO:0001819	synonymous_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3861C>T	16.37:g.2814390C>T			A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.S1287	ENST00000301740.8	37	c.3861	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.438	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	25	0	C			2814390	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.000	T	T	2814390	C	T	2814390	2	4	70	1	0	0	0	0	0	0	0	1	15216	738	26	3		3	SRRM2	16	2814390	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	2217162	2814390	87540363	121	19087											
COG7	91949	genome.wustl.edu	37	chr16	23415147	23415147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggttgtggttgcttgaCcctttttcctaagacaagaa	10	13	10	8	0	0	3	0	1	0	2	1	3	1	3	2	2	2	4	2	2	3	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:23415147C>T	ENST00000307149.5	-	13	1856	c.1671G>A	c.(1669-1671)ggG>ggA	p.G557G		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	557					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGTTGCTTGACCCTTTTTCCT	0.498																																																	0													71	61	64					16																	23415147		2197	4300	6497	SO:0001819	synonymous_variant	0			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.1671G>A	16.37:g.23415147C>T			Q6UWU7	Silent	SNP	pfam_COG7	p.G557	ENST00000307149.5	37	c.1671	CCDS10610.1	16																																																																																			COG7	-	pfam_COG7	ENSG00000168434		0.498	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1		0	34	0	C			23415147	-1			no_errors	ENST00000307149	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.949	T	T	23415147	C	T	23415147	2	4	70	1	0	0	0	0	0	0	0	1	3670	494	18	3		3	COG7	16	23415147	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	20600757	23415147	66939606	122	19088											
GSG1L	146395	genome.wustl.edu	37	chr16	27840194	27840194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaccttgcgcttgtgcCggaactcaatgaccgtcttg	9	10	10	12	3	2	2	1	1	1	1	2	3	2	3	3	1	3	1	3	1	3	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:27840194C>T	ENST00000447459.2	-	5	830	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	GSG1L_ENST00000569166.1_Missense_Mutation_p.R94Q|GSG1L_ENST00000395724.3_Missense_Mutation_p.R198Q|GSG1L_ENST00000380897.3_Missense_Mutation_p.R94Q|GSG1L_ENST00000380898.2_Missense_Mutation_p.R94Q	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	249					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GCGCTTGTGCCGGAACTCAAT	0.592																																																	0													100	74	83					16																	27840194		2197	4300	6497	SO:0001583	missense	0			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.746G>A	16.37:g.27840194C>T	ENSP00000394954:p.Arg249Gln		Q7Z6F8|Q8TB81	Missense_Mutation	SNP	pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin	p.R249Q	ENST00000447459.2	37	c.746	CCDS45450.1	16	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611213	0.87258	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.34072	1.38;1.38	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.45034	0.1322	L	0.29908	0.895	0.46927	D	0.999251	D;D;D	0.76494	0.998;0.997;0.999	P;P;D	0.72625	0.808;0.854;0.978	T	0.32052	-0.9921	10	0.45353	T	0.12	0.2963	11.1472	0.48436	0.0:0.9138:0.0:0.0862	.	198;94;249	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	Q	249;198;94;94	ENSP00000394954:R249Q;ENSP00000379074:R198Q	ENSP00000370282:R94Q	R	-	2	0	GSG1L	27747695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.974000	0.63771	2.455000	0.83008	0.650000	0.86243	CGG	GSG1L	-	NULL	ENSG00000169181		0.592	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG1L	HGNC	protein_coding	OTTHUMT00000433832.2	-	0	67	0	C	NM_144675		27840194	-1	tier1	-	no_errors	ENST00000447459	ensembl	human	known	74_37	missense	25.00	36	12	SNP	1.000	T	T	27840194	C	T	27840194	3	4	70	1	0	0	0	0	1	0	0	0	6848	652	23	1	261	1	GSG1L	16	27840194	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	4425047	27840194	62514559	123	19089											
ZNF267	10308	genome.wustl.edu	37	chr16	31925958	31925958	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggcacaatggatgttatGatgaaaagacttttaaatat	17	12	9	3	0	0	3	0	2	0	1	0	4	0	4	0	2	0	2	0	2	8	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:31925958G>C	ENST00000300870.10	+	4	597	c.388G>C	c.(388-390)Gat>Cat	p.D130H	ZNF267_ENST00000394846.3_3'UTR	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	130					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TGGATGTTATGATGAAAAGAC	0.353																																																	0													120	120	120					16																	31925958		2197	4300	6497	SO:0001583	missense	0			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"Zinc fingers, C2H2-type", "-"	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.388G>C	16.37:g.31925958G>C	ENSP00000300870:p.Asp130His		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D130H	ENST00000300870.10	37	c.388	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	8.782	0.928495	0.18131	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06371	3.31	0.458	0.458	0.16670	.	.	.	.	.	T	0.03136	0.0092	L	0.34521	1.04	0.09310	N	1	P	0.47034	0.889	B	0.28385	0.089	T	0.43015	-0.9417	9	0.46703	T	0.11	.	2.8152	0.05454	0.3857:0.0:0.6143:0.0	.	130	Q14586	ZN267_HUMAN	H	130;97	ENSP00000300870:D130H	ENSP00000300870:D130H	D	+	1	0	ZNF267	31833459	0.000000	0.05858	0.034000	0.17996	0.034000	0.12701	-0.321000	0.08018	0.482000	0.27582	0.484000	0.47621	GAT	ZNF267	-	NULL	ENSG00000185947		0.353	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	-	0	58	0	G	NM_003414		31925958	1	tier1	-	no_errors	ENST00000300870	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.000	C	C	31925958	G	C	31925958	3	2	70	1	0	0	0	0	1	0	0	0	17854	1290	45	5	402	5	ZNF267	16	31925958	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	4085764	31925958	58428795	124	19090											
ORC6L	23594	genome.wustl.edu	37	chr16	46727054	46727054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggatcttgacttatccAggccacttttcacttctgct	8	15	7	11	0	3	1	1	1	2	0	4	2	4	2	2	2	1	1	2	2	2	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:46727054A>G	ENST00000219097.2	+	4	469	c.409A>G	c.(409-411)Agg>Ggg	p.R137G	ORC6_ENST00000568364.2_Missense_Mutation_p.R137G|ORC6_ENST00000566860.1_Missense_Mutation_p.R88G	NM_014321.3	NP_055136.1	Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	137					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						TGACTTATCCAGGCCACTTTT	0.378																																																	0													112	104	107					16																	46727054		2203	4300	6503	SO:0001583	missense	0			AF139658	CCDS10722.1	16q12	2010-10-12	2010-10-12	2010-10-12	ENSG00000091651	ENSG00000091651			17151	protein-coding gene	gene with protein product		607213	"origin recognition complex, subunit 6 homolog-like (yeast)", "origin recognition complex, subunit 6 like (yeast)"	ORC6L		10945994	Standard	NM_014321		Approved		uc002eeh.3	Q9Y5N6	OTTHUMG00000132539	ENST00000219097.2:c.409A>G	16.37:g.46727054A>G	ENSP00000219097:p.Arg137Gly		B3KN89	Missense_Mutation	SNP	pfam_ORC6	p.R137G	ENST00000219097.2	37	c.409	CCDS10722.1	16	.	.	.	.	.	.	.	.	.	.	A	19.04	3.750923	0.69533	.	.	ENSG00000091651	ENST00000219097	T	0.65916	-0.18	5.98	5.98	0.97165	.	0.161638	0.52532	D	0.000069	T	0.61763	0.2373	M	0.69823	2.125	0.39529	D	0.968634	P;B	0.34462	0.454;0.04	B;B	0.29598	0.104;0.013	T	0.67546	-0.5643	10	0.72032	D	0.01	.	15.4522	0.75282	1.0:0.0:0.0:0.0	.	137;137	B3KMP9;Q9Y5N6	.;ORC6_HUMAN	G	137	ENSP00000219097:R137G	ENSP00000219097:R137G	R	+	1	2	ORC6	45284555	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.365000	0.79537	2.289000	0.77006	0.482000	0.46254	AGG	ORC6	-	NULL	ENSG00000091651		0.378	ORC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC6	HGNC	protein_coding	OTTHUMT00000255739.3	-	0	24	0	A			46727054	1	tier1	-	no_errors	ENST00000219097	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	G	G	46727054	A	G	46727054	3	3	70	1	0	0	0	0	1	0	0	0	11305	179	7	4	423	4	ORC6L	16	46727054	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	14801096	46727054	43627699	125	19091											
ABCC11	85320	genome.wustl.edu	37	chr16	48221195	48221195	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgacaatcaacaggacGgcgatcaccattaaggacag	16	5	9	11	2	2	1	2	1	0	0	2	4	2	3	1	3	1	0	1	3	3	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:48221195G>T	ENST00000394747.1	-	20	3199	c.2850C>A	c.(2848-2850)gcC>gcA	p.A950A	ABCC11_ENST00000356608.2_Silent_p.A950A|ABCC11_ENST00000353782.5_Silent_p.A950A|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.A950A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	950	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.A950A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TCAACAGGACGGCGATCACCA	0.458																																																	1	Substitution - coding silent(1)	endometrium(1)											104	88	93					16																	48221195		2201	4300	6501	SO:0001819	synonymous_variant	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2850C>A	16.37:g.48221195G>T			Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A950	ENST00000394747.1	37	c.2850	CCDS10732.1	16																																																																																			ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000121270		0.458	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1		0	57	0	G	NM_032583		48221195	-1			no_errors	ENST00000356608	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.000	T	T	48221195	G	T	48221195	2	4	70	1	0	0	0	0	0	0	0	1	51	1103	39	2		2	ABCC11	16	48221195	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	1494141	48221195	42133558	126	19092											
TOX3	27324	genome.wustl.edu	37	chr16	52484428	52484428	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcagggagggatcctgccGgtactgggacacttgtgtgt	7	10	16	8	1	1	0	1	0	0	0	2	4	2	3	2	4	2	1	2	4	1	2	rs573103587		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:52484428G>T	ENST00000219746.9	-	4	723	c.439C>A	c.(439-441)Cgg>Agg	p.R147R	TOX3_ENST00000407228.3_Silent_p.R142R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	147					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGATCCTGCCGGTACTGGGAC	0.532																																																	0													79	83	82					16																	52484428		2046	4189	6235	SO:0001819	synonymous_variant	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.439C>A	16.37:g.52484428G>T			B4DRD0|B5MCW4	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R147	ENST00000219746.9	37	c.439	CCDS54009.1	16																																																																																			TOX3	-	NULL	ENSG00000103460		0.532	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1		0	51	0	G	XM_049037		52484428	-1			no_errors	ENST00000219746	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.998	T	T	52484428	G	T	52484428	2	4	70	1	0	0	0	0	0	0	0	1	16427	1115	39	2		2	TOX3	16	52484428	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	4263233	52484428	37870325	127	19093											
CES1	1066	genome.wustl.edu	37	chr16	55853484	55853484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagagctcctcttccgtcTtctgtcgcaggcagtgaacc	7	10	9	15	2	3	2	0	1	3	1	6	2	5	2	4	1	2	3	4	1	2	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:55853484T>C	ENST00000361503.4	-	7	996	c.866A>G	c.(865-867)aAg>aGg	p.K289R	CES1_ENST00000422046.2_Missense_Mutation_p.K289R|CES1_ENST00000566555.1_5'Flank|CES1_ENST00000360526.3_Missense_Mutation_p.K290R			P23141	EST1_HUMAN	carboxylesterase 1	289					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CTCTTCCGTCTTCTGTCGCAG	0.498																																					NSCLC(162;1801 2756 42904 52896)												0													140	140	140					16																	55853484		2198	4300	6498	SO:0001583	missense	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.866A>G	16.37:g.55853484T>C	ENSP00000355193:p.Lys289Arg		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.K290R	ENST00000361503.4	37	c.869	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	15.68	2.905397	0.52333	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.70282	-0.47;-0.47;-0.47	3.81	2.71	0.32032	Carboxylesterase, type B (1);	0.485773	0.19288	N	0.117970	T	0.71307	0.3324	M	0.65677	2.01	0.34461	D	0.701751	P;D;P	0.55800	0.51;0.973;0.704	P;P;B	0.51866	0.557;0.682;0.421	T	0.77560	-0.2542	10	0.59425	D	0.04	.	5.1	0.14754	0.0:0.1375:0.0:0.8625	.	289;289;290	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	R	290;289;289;154	ENSP00000353720:K290R;ENSP00000355193:K289R;ENSP00000390492:K289R	ENSP00000353720:K290R	K	-	2	0	CES1	54410985	1.000000	0.71417	0.999000	0.59377	0.503000	0.33858	2.573000	0.46007	1.390000	0.46547	0.374000	0.22700	AAG	CES1	-	pfam_CarbesteraseB	ENSG00000198848		0.498	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0	83	0	T	NM_001266		55853484	-1	tier1	-	no_errors	ENST00000360526	ensembl	human	known	74_37	missense	31.40	59	27	SNP	1.000	C	C	55853484	T	C	55853484	3	2	70	1	0	0	0	0	1	0	0	0	3276	1609	56	4	869	4	CES1	16	55853484	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	3369056	55853484	34501269	128	19094											
ZNF23	7571	genome.wustl.edu	37	chr16	71482989	71482989	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacattgaacgctttcccAcagtcattacactcgtaagg	12	12	6	11	2	1	1	1	1	0	0	3	1	2	1	1	1	3	2	1	1	4	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:71482989A>G	ENST00000393539.2	-	6	1752	c.939T>C	c.(937-939)tgT>tgC	p.C313C	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000417828.1_Silent_p.C313C|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000357254.4_Silent_p.C313C|ZNF23_ENST00000428724.2_Silent_p.C255C|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Silent_p.C255C|AC010547.9_ENST00000561908.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		ACGCTTTCCCACAGTCATTAC	0.393																																																	0													70	69	69					16																	71482989		2198	4300	6498	SO:0001819	synonymous_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.939T>C	16.37:g.71482989A>G			Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C313	ENST00000393539.2	37	c.939	CCDS10900.1	16																																																																																			ZNF23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.393	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	0	90	0	A	NM_145911		71482989	-1	tier1	-	no_errors	ENST00000357254	ensembl	human	known	74_37	silent	38.46	32	20	SNP	1.000	G	G	71482989	A	G	71482989	2	3	70	1	0	0	0	0	0	0	0	1	17831	157	6	4		4	ZNF23	16	71482989	Silent	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	15629505	71482989	18871764	129	19095											
TUBB3	10381	genome.wustl.edu	37	chr16	90002059	90002059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcactggtacacgggCgagggcatggacgagatgga	9	7	16	9	3	0	1	0	0	0	1	1	5	1	3	1	5	2	3	1	5	1	2	rs144689076		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr16:90002059C>T	ENST00000315491.7	+	4	1323	c.1200C>T	c.(1198-1200)ggC>ggT	p.G400G	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.G747G|TUBB3_ENST00000304984.5_Silent_p.G328G|TUBB3_ENST00000554444.1_Silent_p.G328G	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	400					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GGTACACGGGCGAGGGCATGG	0.622																																																	0													91	89	90					16																	90002059		2197	4277	6474	SO:0001819	synonymous_variant	0			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.1200C>T	16.37:g.90002059C>T			A8K854|Q9BTZ0|Q9BW10	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G400	ENST00000315491.7	37	c.1200	CCDS10988.1	16																																																																																			TUBB3	-	superfamily_Tub_FtsZ_C,prints_Delta_tubulin	ENSG00000258947		0.622	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	Uniprot_gn	protein_coding	OTTHUMT00000272874.1		0	105	0	C	NM_006086		90002059	1			no_errors	ENST00000315491	ensembl	human	known	74_37	silent	9.09	90	9	SNP	0.999	T	T	90002059	C	T	90002059	2	4	70	1	0	0	0	0	0	0	0	1	16806	755	27	1		1	TUBB3	16	90002059	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	18519070	90002059	352694	130	19096											
PLD2	5338	genome.wustl.edu	37	chr17	4711597	4711597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactctgtattctgtccGcttgactcacggcgactttt	5	15	8	13	3	3	1	1	1	2	0	4	2	4	1	1	1	1	3	1	1	1	5	rs373143377		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr17:4711597G>T	ENST00000263088.6	+	4	400	c.269G>T	c.(268-270)cGc>cTc	p.R90L	PLD2_ENST00000572940.1_Missense_Mutation_p.R90L|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	90	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TATTCTGTCCGCTTGACTCAC	0.552																																																	0													184	173	177					17																	4711597		2203	4300	6503	SO:0001583	missense	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.269G>T	17.37:g.4711597G>T	ENSP00000263088:p.Arg90Leu		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.R90L	ENST00000263088.6	37	c.269	CCDS11057.1	17	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378982	0.42207	.	.	ENSG00000129219	ENST00000263088	T	0.39997	1.05	5.07	0.716	0.18191	Phox homologous domain (5);	0.941035	0.09029	N	0.858973	T	0.32285	0.0824	L	0.43152	1.355	0.26036	N	0.981678	B;B	0.23058	0.023;0.079	B;B	0.24394	0.041;0.053	T	0.36040	-0.9764	10	0.59425	D	0.04	-4.9428	3.9771	0.09479	0.2493:0.0:0.4675:0.2833	.	90;90	O14939-2;O14939	.;PLD2_HUMAN	L	90	ENSP00000263088:R90L	ENSP00000263088:R90L	R	+	2	0	PLD2	4658561	0.245000	0.23899	0.603000	0.28903	0.858000	0.48976	0.925000	0.28791	0.246000	0.21394	-0.258000	0.10820	CGC	PLD2	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox	ENSG00000129219		0.552	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3		0	35	0	G	NM_002663		4711597	1			no_errors	ENST00000263088	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.060	T	T	4711597	G	T	4711597	3	4	70	1	0	0	0	0	1	0	0	0	12085	1087	38	2	279	2	PLD2	17	4711597	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		4711597	76483613	131	19097											
SREBF1	6720	genome.wustl.edu	37	chr17	17718011	17718011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcccgccgcagccagtGgatcaccacagctgtcagag	9	6	10	16	2	3	1	3	0	0	1	4	2	4	2	4	1	2	2	4	1	0	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr17:17718011G>A	ENST00000261646.5	-	15	2837	c.2653C>T	c.(2653-2655)Cac>Tac	p.H885Y	SREBF1_ENST00000395757.1_Missense_Mutation_p.H631Y|SREBF1_ENST00000338854.5_Missense_Mutation_p.H885Y|SREBF1_ENST00000355815.4_Missense_Mutation_p.H915Y|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	885					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CGCAGCCAGTGGATCACCACA	0.677																																																	0													17	17	17					17																	17718011		2190	4296	6486	SO:0001583	missense	0			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"Basic helix-loop-helix proteins"	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2653C>T	17.37:g.17718011G>A	ENSP00000261646:p.His885Tyr		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.H915Y	ENST00000261646.5	37	c.2743	CCDS11189.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.45|14.45	2.537833|2.537833	0.45176|0.45176	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161|ENST00000395751	T;T;T;T|.	0.16897|.	2.31;2.31;2.31;2.31|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.055071|.	0.64402|.	D|.	0.000001|.	T|T	0.60379|0.60379	0.2264|0.2264	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	P;P;B|.	0.39352|.	0.539;0.669;0.203|.	B;B;B|.	0.38056|.	0.135;0.264;0.09|.	T|T	0.55742|0.55742	-0.8093|-0.8093	10|5	0.18710|.	T|.	0.47|.	-30.5452|-30.5452	14.1829|14.1829	0.65586|0.65586	0.0:0.0:0.8502:0.1498|0.0:0.0:0.8502:0.1498	.|.	885;915;504|.	P36956;P36956-4;A8MTU8|.	SRBP1_HUMAN;.;.|.	Y|L	885;915;885;631;504;722;811|892	ENSP00000345822:H885Y;ENSP00000348069:H915Y;ENSP00000261646:H885Y;ENSP00000379106:H631Y|.	ENSP00000261646:H885Y|.	H|P	-|-	1|2	0|0	SREBF1|SREBF1	17658736|17658736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	3.874000|3.874000	0.56101|0.56101	2.658000|2.658000	0.90341|0.90341	0.550000|0.550000	0.68814|0.68814	CAC|CCA	SREBF1	-	NULL	ENSG00000072310		0.677	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF1	HGNC	protein_coding	OTTHUMT00000131771.1	-	0	37	0	G	NM_004176		17718011	-1	tier1	-	no_errors	ENST00000355815	ensembl	human	known	74_37	missense	75.00	4	12	SNP	1.000	A	A	17718011	G	A	17718011	3	1	70	1	0	0	0	0	1	0	0	0	15188	1348	47	3	810	3	SREBF1	17	17718011	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	13006414	17718011	63477199	132	19098											
TAOK1	57551	genome.wustl.edu	37	chr17	27844497	27844497	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaaaccagagtaccccCaaaaaagaaaaacaggagtg	22	3	8	8	0	0	3	0	1	0	2	0	4	0	4	3	1	3	1	3	1	9	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr17:27844497C>A	ENST00000261716.3	+	16	2250	c.1731C>A	c.(1729-1731)ccC>ccA	p.P577P	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	577					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGAGTACCCCCAAAAAAGAAA	0.443																																																	0													105	110	109					17																	27844497		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1731C>A	17.37:g.27844497C>A			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P577	ENST00000261716.3	37	c.1731	CCDS32601.1	17																																																																																			TAOK1	-	superfamily_Kinase-like_dom	ENSG00000160551		0.443	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1		0	8	0	C	NM_020791		27844497	1			no_errors	ENST00000261716	ensembl	human	known	74_37	silent	9.09	20	2	SNP	0.263	A	A	27844497	C	A	27844497	2	1	70	1	0	0	0	0	0	0	0	1	15594	581	21	3		3	TAOK1	17	27844497	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	10126486	27844497	53350713	133	19099											
RAB11FIP4	84440	genome.wustl.edu	37	chr17	29848204	29848204	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccctggtccacactccatCcatgacgacctcagaccttt	8	10	6	17	1	1	2	1	1	0	1	5	3	5	2	6	1	0	0	6	1	0	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr17:29848204C>G	ENST00000325874.8	+	5	813	c.584C>G	c.(583-585)tCc>tGc	p.S195C	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.S93C|RN7SL45P_ENST00000578050.1_RNA	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	195	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CACACTCCATCCATGACGACC	0.587																																																	0													170	153	158					17																	29848204		2203	4300	6503	SO:0001583	missense	0			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"EF-hand domain containing"	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	ENST00000325874.8:c.584C>G	17.37:g.29848204C>G	ENSP00000312837:p.Ser195Cys		Q52LI1|Q8N829|Q8NDT7|Q969D8	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom	p.S195C	ENST00000325874.8	37	c.584	CCDS11267.1	17	.	.	.	.	.	.	.	.	.	.	C	6.935	0.542257	0.13250	.	.	ENSG00000131242	ENST00000325874;ENST00000394744	.	.	.	5.74	5.74	0.90152	.	0.245511	0.43416	D	0.000564	T	0.48277	0.1491	L	0.42245	1.32	0.37399	D	0.912757	P;P	0.45348	0.739;0.856	B;B	0.42555	0.391;0.371	T	0.52403	-0.8580	8	.	.	.	-14.0459	15.4191	0.74997	0.0:1.0:0.0:0.0	.	93;195	Q86YS3-2;Q86YS3	.;RFIP4_HUMAN	C	195	.	.	S	+	2	0	RAB11FIP4	26872324	1.000000	0.71417	0.514000	0.27761	0.074000	0.17049	6.411000	0.73298	2.707000	0.92482	0.655000	0.94253	TCC	RAB11FIP4	-	NULL	ENSG00000131242		0.587	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP4	HGNC	protein_coding	OTTHUMT00000256195.2	-	0	99	0	C	NM_032932		29848204	1	tier1	-	no_errors	ENST00000325874	ensembl	human	known	74_37	missense	13.73	88	14	SNP	0.691	G	G	29848204	C	G	29848204	3	3	70	1	0	0	0	0	1	0	0	0	12941	855	30	5	602	5	RAB11FIP4	17	29848204	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	2003707	29848204	51347006	134	19100											
KRT37	8688	genome.wustl.edu	37	chr17	39580086	39580086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggcattctcagccttgCtgcacaggatctgaggaaaa	10	9	11	11	0	2	1	1	1	2	0	3	3	2	3	2	3	3	3	2	3	2	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr17:39580086C>A	ENST00000225550.3	-	2	502	c.503G>T	c.(502-504)aGc>aTc	p.S168I	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	168	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CTCAGCCTTGCTGCACAGGAT	0.483																																																	0													124	105	112					17																	39580086		2203	4300	6503	SO:0001583	missense	0			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.503G>T	17.37:g.39580086C>A	ENSP00000225550:p.Ser168Ile			Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.S168I	ENST00000225550.3	37	c.503	CCDS32653.1	17	.	.	.	.	.	.	.	.	.	.	.	14.80	2.643218	0.47153	.	.	ENSG00000108417	ENST00000225550	D	0.88201	-2.35	4.86	-3.23	0.05109	Filament (1);	0.477138	0.19441	N	0.114181	T	0.78039	0.4221	N	0.25825	0.765	0.25740	N	0.985172	B	0.14438	0.01	B	0.15052	0.012	T	0.66244	-0.5972	10	0.46703	T	0.11	.	9.2831	0.37740	0.0:0.1944:0.6203:0.1853	.	168	O76014	KRT37_HUMAN	I	168	ENSP00000225550:S168I	ENSP00000225550:S168I	S	-	2	0	KRT37	36833612	0.000000	0.05858	0.996000	0.52242	0.953000	0.61014	-0.929000	0.03976	-0.102000	0.12197	0.655000	0.94253	AGC	KRT37	-	pfam_IF	ENSG00000108417		0.483	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	HGNC	protein_coding	OTTHUMT00000257714.2	-	0	54	0	C	NM_003770		39580086	-1	tier1	-	no_errors	ENST00000225550	ensembl	human	known	74_37	missense	5.96	410	26	SNP	0.957	A	A	39580086	C	A	39580086	3	1	70	1	0	0	0	0	1	0	0	0	8501	797	28	3	870	3	KRT37	17	39580086	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	9731882	39580086	41615124	135	19101											
CNTNAP1	8506	genome.wustl.edu	37	chr17	40841641	40841641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagggagagacctgccaCacacgtaagccagatgtggt	13	6	12	10	1	0	2	0	0	0	2	0	4	0	3	3	2	3	1	3	2	3	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr17:40841641C>T	ENST00000264638.4	+	11	1948	c.1731C>T	c.(1729-1731)caC>caT	p.H577H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	577	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGACCTGCCACACACGTAAGC	0.557																																																	0													62	46	51					17																	40841641		2203	4300	6503	SO:0001819	synonymous_variant	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1731C>T	17.37:g.40841641C>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.H577	ENST00000264638.4	37	c.1731	CCDS11436.1	17																																																																																			CNTNAP1	-	superfamily_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom	ENSG00000108797		0.557	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	-	0	41	0	C	NM_003632		40841641	1	tier1	-	no_errors	ENST00000264638	ensembl	human	known	74_37	silent	28.89	32	13	SNP	0.999	T	T	40841641	C	T	40841641	2	4	70	1	0	0	0	0	0	0	0	1	3653	477	17	3		3	CNTNAP1	17	40841641	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	1261555	40841641	40353569	136	19102											
CNTD1	124817	genome.wustl.edu	37	chr17	40956372	40956372	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttactctccgtcttgtGtcatgtgttcagctggccag	6	15	10	10	1	4	0	2	0	2	0	5	0	4	0	2	1	2	3	2	1	2	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr17:40956372G>T	ENST00000588408.1	+	3	651	c.375G>T	c.(373-375)gtG>gtT	p.V125V	CNTD1_ENST00000588527.1_Silent_p.V42V	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	125	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCGTCTTGTGTCATGTGTTC	0.473																																																	0													147	136	140					17																	40956372		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"cyclin N-terminal domain containing"	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.375G>T	17.37:g.40956372G>T			Q658Q6|Q8NEP1	Silent	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.V125	ENST00000588408.1	37	c.375	CCDS11440.1	17																																																																																			CNTD1	-	pfam_Cyclin_N,superfamily_Cyclin-like	ENSG00000176563		0.473	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	HGNC	protein_coding	OTTHUMT00000452398.1	-	0	45	0	G	NM_173478		40956372	1	tier1	-	no_errors	ENST00000588408	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	40956372	G	T	40956372	2	4	70	1	0	0	0	0	0	0	0	1	3642	1364	48	3		3	CNTD1	17	40956372	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	114731	40956372	40238838	137	19103											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6894866	6894866	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagacttcaaaggtactgcaAaaatcaccctcggcaagacg	16	6	8	11	2	2	2	2	0	0	2	3	2	2	2	1	2	2	3	1	2	6	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr18:6894866A>C	ENST00000383472.4	+	15	1985	c.1881A>C	c.(1879-1881)caA>caC	p.Q627H	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.Q468H|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.Q468H|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.Q627H|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.Q468H|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.Q575H|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.Q463H|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.Q450H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	627					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGGTACTGCAAAAATCACCCT	0.383																																																	0													117	113	114					18																	6894866		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1881A>C	18.37:g.6894866A>C	ENSP00000372964:p.Gln627His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q627H	ENST00000383472.4	37	c.1881		18	.	.	.	.	.	.	.	.	.	.	A	14.53	2.561688	0.45590	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08458	3.25;3.2;3.17;3.16;3.17;3.09	4.82	2.43	0.29744	.	0.125195	0.36740	N	0.002434	T	0.13372	0.0324	L	0.32530	0.975	0.27867	N	0.94018	D;D;D;D	0.61080	0.981;0.981;0.989;0.978	P;P;D;P	0.63597	0.592;0.76;0.916;0.854	T	0.03463	-1.1034	10	0.66056	D	0.02	.	6.1983	0.20561	0.7995:0.0:0.2005:0.0	.	627;459;468;575	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	H	627;575;468;463;468;468;459;450	ENSP00000382963:Q627H;ENSP00000262227:Q575H;ENSP00000392660:Q468H;ENSP00000437262:Q463H;ENSP00000313506:Q468H;ENSP00000406907:Q468H	ENSP00000262227:Q575H	Q	+	3	2	ARHGAP28	6884866	0.997000	0.39634	1.000000	0.80357	0.571000	0.35966	0.130000	0.15850	0.430000	0.26230	0.533000	0.62120	CAA	ARHGAP28	-	NULL	ENSG00000088756		0.383	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	35	0	A	XM_371108		6894866	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	C	C	6894866	A	C	6894866	3	2	70	1	0	0	0	0	1	0	0	0	877	11	1	4	1454	4	ARHGAP28	18	6894866	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09		6894866	71182382	138	19104											
LAMA1	284217	genome.wustl.edu	37	chr18	6965355	6965355	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataacgtctgtctgtcaaaAgggtaatgggtcctgaaccc	11	11	10	9	1	3	1	1	1	2	0	4	1	4	1	2	2	2	1	2	2	6	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr18:6965355A>C	ENST00000389658.3	-	50	7220	c.7127T>G	c.(7126-7128)cTt>cGt	p.L2376R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2376	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GTCTGTCAAAAGGGTAATGGG	0.463																																																	0													125	116	119					18																	6965355		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7127T>G	18.37:g.6965355A>C	ENSP00000374309:p.Leu2376Arg			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2376R	ENST00000389658.3	37	c.7127	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092661	0.76756	.	.	ENSG00000101680	ENST00000389658	T	0.77877	-1.13	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	D	0.000001	D	0.90041	0.6890	M	0.91459	3.21	0.58432	D	0.999997	D	0.89917	1.0	D	0.81914	0.995	D	0.89333	0.3648	10	0.26408	T	0.33	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	2376	P25391	LAMA1_HUMAN	R	2376	ENSP00000374309:L2376R	ENSP00000374309:L2376R	L	-	2	0	LAMA1	6955355	1.000000	0.71417	0.228000	0.23943	0.627000	0.37826	5.161000	0.64935	2.371000	0.80710	0.533000	0.62120	CTT	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.463	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	51	0	A	NM_005559		6965355	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	32.39	48	23	SNP	0.984	C	C	6965355	A	C	6965355	3	2	70	1	0	0	0	0	1	0	0	0	8633	72	3	4	2156	4	LAMA1	18	6965355	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	70489	6965355	71111893	139	19105											
KDM4B	23030	genome.wustl.edu	37	chr19	5131108	5131108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggaggggcaagctgcGgccaaccaaggccaagagcg	11	1	18	11	3	0	1	0	0	0	1	0	3	0	3	3	6	4	2	3	6	4	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:5131108G>A	ENST00000159111.4	+	12	1555	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	KDM4B_ENST00000536461.1_Missense_Mutation_p.R480Q	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	446					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGCAAGCTGCGGCCAACCAAG	0.667																																																	0													19	24	22					19																	5131108		2179	4287	6466	SO:0001583	missense	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1337G>A	19.37:g.5131108G>A	ENSP00000159111:p.Arg446Gln		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.R446Q	ENST00000159111.4	37	c.1337	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558662	0.86231	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18657	2.2;2.2	4.09	4.09	0.47781	.	2.046340	0.02040	N	0.049205	T	0.41719	0.1171	L	0.43152	1.355	0.35688	D	0.814594	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.40608	-0.9554	10	0.11485	T	0.65	-38.7108	14.6691	0.68932	0.0:0.0:1.0:0.0	.	480;446	F5GX28;O94953	.;KDM4B_HUMAN	Q	446;480	ENSP00000159111:R446Q;ENSP00000440495:R480Q	ENSP00000159111:R446Q	R	+	2	0	KDM4B	5082108	0.997000	0.39634	0.976000	0.42696	0.822000	0.46500	4.351000	0.59398	2.114000	0.64651	0.561000	0.74099	CGG	KDM4B	-	NULL	ENSG00000127663		0.667	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	-	0	24	0	G	NM_015015		5131108	1	tier1	-	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.954	A	A	5131108	G	A	5131108	3	1	70	1	0	0	0	0	1	0	0	0	8156	1116	39	1	1375	1	KDM4B	19	5131108	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09		5131108	53997875	140	19106											
PODNL1	79883	genome.wustl.edu	37	chr19	14044255	14044255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagagatccaggtattcaaGgctatgcagcttgctggaag	11	9	14	7	0	1	1	1	0	0	1	2	4	2	3	1	4	3	5	1	4	4	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:14044255G>A	ENST00000339560.5	-	8	1075	c.802C>T	c.(802-804)Ctt>Ttt	p.L268F	PODNL1_ENST00000254320.3_Missense_Mutation_p.L186F|PODNL1_ENST00000538371.2_Missense_Mutation_p.L266F|PODNL1_ENST00000538517.2_Missense_Mutation_p.L177F	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	268	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGGTATTCAAGGCTATGCAGC	0.642																																																	0													22	25	24					19																	14044255		2203	4296	6499	SO:0001583	missense	0			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.802C>T	19.37:g.14044255G>A	ENSP00000345175:p.Leu268Phe		B7Z564|Q9H5G9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L268F	ENST00000339560.5	37	c.802	CCDS12300.1	19	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484573	0.63962	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.91	2.78	0.32641	.	0.000000	0.36444	N	0.002599	D	0.92296	0.7556	H	0.95780	3.72	0.29985	N	0.817342	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.87859	0.2663	10	0.87932	D	0	.	8.2433	0.31673	0.1891:0.0:0.8108:0.0	.	266;186;177;268	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	F	266;177;268;118;186	ENSP00000442553:L266F;ENSP00000440080:L177F;ENSP00000345175:L268F;ENSP00000254320:L186F	ENSP00000254320:L186F	L	-	1	0	PODNL1	13905255	1.000000	0.71417	0.093000	0.20910	0.947000	0.59692	4.479000	0.60236	0.487000	0.27698	0.579000	0.79373	CTT	PODNL1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000132000		0.642	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	PODNL1	HGNC	protein_coding	OTTHUMT00000457967.1	-	0	68	0	G	NM_024825		14044255	-1	tier1	-	no_errors	ENST00000339560	ensembl	human	known	74_37	missense	30.69	70	31	SNP	0.998	A	A	14044255	G	A	14044255	3	1	70	1	0	0	0	0	1	0	0	0	12218	1000	35	3	740	3	PODNL1	19	14044255	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	8913147	14044255	45084728	141	19107											
LPHN1	22859	genome.wustl.edu	37	chr19	14271034	14271034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcacagaggaggagacgtCccccgcgtagatggagcccc	9	5	13	14	3	1	3	1	0	0	3	2	6	2	5	4	3	1	1	4	3	1	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:14271034C>T	ENST00000340736.6	-	9	2002	c.1705G>A	c.(1705-1707)Gac>Aac	p.D569N	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'Flank|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.D564N	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	569					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGAGACGTCCCCCGCGTAG	0.667																																																	0													50	61	57					19																	14271034		2203	4299	6502	SO:0001583	missense	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1705G>A	19.37:g.14271034C>T	ENSP00000340688:p.Asp569Asn		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D569N	ENST00000340736.6	37	c.1705	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510241	0.85282	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.37752	1.18;1.18	5.26	4.23	0.50019	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	M	0.83223	2.63	0.54753	D	0.999988	D;D	0.61080	0.989;0.988	D;D	0.66979	0.944;0.948	T	0.66244	-0.5972	10	0.87932	D	0	.	12.0827	0.53680	0.0:0.9153:0.0:0.0847	.	564;569	O94910-2;O94910	.;LPHN1_HUMAN	N	569;564	ENSP00000340688:D569N;ENSP00000355328:D564N	ENSP00000340688:D569N	D	-	1	0	LPHN1	14132034	1.000000	0.71417	0.199000	0.23439	0.772000	0.43724	7.776000	0.85560	1.354000	0.45846	0.561000	0.74099	GAC	LPHN1	-	pfam_DUF3497	ENSG00000072071		0.667	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	-	0	109	0	C	NM_014921		14271034	-1	tier1	-	no_errors	ENST00000340736	ensembl	human	known	74_37	missense	33.33	54	27	SNP	0.989	T	T	14271034	C	T	14271034	3	4	70	1	0	0	0	0	1	0	0	0	8950	855	30	3	2783	3	LPHN1	19	14271034	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	226779	14271034	44857949	142	19108											
ZNF208	7757	genome.wustl.edu	37	chr19	22156000	22156000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaaggttttgccacattcTtcacatttgtagggtttctc	8	17	7	9	0	3	0	1	0	2	0	4	0	3	0	1	2	1	3	1	2	3	8	rs553606877		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:22156000T>G	ENST00000397126.4	-	4	1984	c.1836A>C	c.(1834-1836)gaA>gaC	p.E612D	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGCCACATTCTTCACATTTGT	0.373													t|||	1	0.000199681	0	0	5008	,	,		22333	0		0	False		,,,				2504	0.001																0													62	66	65					19																	22156000		2106	4244	6350	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1836A>C	19.37:g.22156000T>G	ENSP00000380315:p.Glu612Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E612D	ENST00000397126.4	37	c.1836	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	8.969	0.972505	0.18736	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16897	2.31	2.8	-5.59	0.02505	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10594	0.0259	.	.	.	0.09310	N	1	P	0.50710	0.938	P	0.50825	0.651	T	0.05402	-1.0887	8	0.11485	T	0.65	.	1.2207	0.01923	0.204:0.2679:0.102:0.4261	.	512	O43345	ZN208_HUMAN	D	612;512	ENSP00000380315:E612D	ENSP00000380315:E612D	E	-	3	2	ZNF208	21947840	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-6.555000	0.00061	-1.675000	0.01459	0.254000	0.18369	GAA	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	70	0	T	NM_007153		22156000	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	15.19	67	12	SNP	0.000	G	G	22156000	T	G	22156000	3	3	70	1	0	0	0	0	1	0	0	0	17814	1606	56	4	2010	4	ZNF208	19	22156000	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	7884966	22156000	36972983	143	19109											
ZNF98	148198	genome.wustl.edu	37	chr19	22575670	22575670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcttttacagtattttcTtaactgtaaattttcacgtc	10	19	4	8	1	2	0	1	0	1	0	3	0	2	0	0	0	3	3	0	0	5	9			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:22575670T>C	ENST00000357774.5	-	4	488	c.367A>G	c.(367-369)Aga>Gga	p.R123G		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGTATTTTCTTAACTGTAAA	0.333																																																	0													64	55	58					19																	22575670		1981	4191	6172	SO:0001583	missense	0				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.367A>G	19.37:g.22575670T>C	ENSP00000350418:p.Arg123Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R123G	ENST00000357774.5	37	c.367	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	4.251	0.045638	0.08196	.	.	ENSG00000197360	ENST00000357774	T	0.07114	3.22	0.916	-1.37	0.09056	.	.	.	.	.	T	0.10035	0.0246	M	0.79343	2.45	0.09310	N	1	B	0.18863	0.031	B	0.19946	0.027	T	0.35574	-0.9783	9	0.39692	T	0.17	.	3.5855	0.07969	0.3347:0.0:0.0:0.6653	.	123	A6NK75	ZNF98_HUMAN	G	123	ENSP00000350418:R123G	ENSP00000350418:R123G	R	-	1	2	ZNF98	22367510	0.000000	0.05858	0.038000	0.18304	0.037000	0.13140	-0.758000	0.04766	0.257000	0.21650	0.254000	0.18369	AGA	ZNF98	-	NULL	ENSG00000197360		0.333	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	-	0	86	0	T	NM_001098626		22575670	-1	tier1	-	no_errors	ENST00000357774	ensembl	human	known	74_37	missense	33.33	50	25	SNP	0.080	C	C	22575670	T	C	22575670	3	2	70	1	0	0	0	0	1	0	0	0	18251	1617	56	4	1355	4	ZNF98	19	22575670	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	419670	22575670	36553313	144	19110											
CEACAM3	1084	genome.wustl.edu	37	chr19	42312912	42312912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgtgaccggggtcctggtCggagtggcgctggtggccgc	3	8	19	11	5	0	1	0	1	0	0	3	2	1	2	3	7	0	1	3	7	0	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:42312912C>T	ENST00000357396.3	+	3	727	c.486C>T	c.(484-486)gtC>gtT	p.V162V	CEACAM3_ENST00000344550.4_Silent_p.V162V|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.V162V	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	162						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GGGTCCTGGTCGGAGTGGCGC	0.607																																																	0													132	131	131					19																	42312912		2203	4300	6503	SO:0001819	synonymous_variant	0			E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.486C>T	19.37:g.42312912C>T			G5E978|Q3KPH9	Silent	SNP	pfam_Ig_V-set	p.V162	ENST00000357396.3	37	c.486	CCDS12586.2	19																																																																																			CEACAM3	-	NULL	ENSG00000170956		0.607	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEACAM3	HGNC	protein_coding	OTTHUMT00000316509.2	-	0	113	0	C	NM_001815		42312912	1	tier1	-	no_errors	ENST00000357396	ensembl	human	known	74_37	silent	37.74	66	40	SNP	0.000	T	T	42312912	C	T	42312912	2	4	70	1	0	0	0	0	0	0	0	1	3200	871	31	1		1	CEACAM3	19	42312912	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	19737242	42312912	16816071	145	19111											
CD177	57126	genome.wustl.edu	37	chr19	43857882	43857882	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtcatgagcgcggtattaCtgctggccctcctggggttc	4	11	15	11	2	1	1	1	1	0	0	3	1	2	1	2	5	3	3	2	5	2	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:43857882C>T	ENST00000607517.1	+	0	72				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CGCGGTATTACTGCTGGCCCT	0.567																																																	0													83	81	82					19																	43857882		1915	4117	6032			0			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43857882C>T			Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Silent	SNP	pfam_LY6_UPAR	p.L6	ENST00000607517.1	37	c.16		19																																																																																			CD177	-	NULL	ENSG00000204936		0.567	CD177-001	KNOWN	basic	polymorphic_pseudogene	CD177	HGNC	polymorphic_pseudogene	OTTHUMT00000470162.1	-	0	60	0	C	NM_020406		43857882	1	tier1	-	no_errors	ENST00000378009	ensembl	human	known	74_37	silent	33.33	50	25	SNP	0.041	T	T	43857882	C	T	43857882	1	4	70	0	1	0	0	0	0	0	0	0	2978	564	20	3		3	CD177	19	43857882	RNA	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	1544970	43857882	15271101	146	19112											
FPR2	2358	genome.wustl.edu	37	chr19	52272896	52272896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggccctgtctgaggacTcagccccaactaatgacacg	11	6	11	13	1	2	3	1	2	1	1	2	4	2	4	3	2	2	0	3	2	2	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:52272896T>G	ENST00000598776.1	+	2	1757	c.985T>G	c.(985-987)Tca>Gca	p.S329A	FPR2_ENST00000598953.1_Missense_Mutation_p.S329A|FPR2_ENST00000340023.6_Missense_Mutation_p.S329A	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	329					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTCTGAGGACTCAGCCCCAAC	0.547																																																	0													72	68	69					19																	52272896		2203	4300	6503	SO:0001583	missense	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.985T>G	19.37:g.52272896T>G	ENSP00000468897:p.Ser329Ala		A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt	p.S329A	ENST00000598776.1	37	c.985	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	10.86	1.468959	0.26335	.	.	ENSG00000171049	ENST00000340023	T	0.38722	1.12	4.49	-0.639	0.11497	.	1.599620	0.03573	N	0.228876	T	0.42765	0.1217	M	0.79475	2.455	0.09310	N	1	B	0.23806	0.091	B	0.26969	0.075	T	0.32322	-0.9911	10	0.66056	D	0.02	.	0.5849	0.00718	0.2011:0.2828:0.1507:0.3654	.	329	P25090	FPR2_HUMAN	A	329	ENSP00000340191:S329A	ENSP00000340191:S329A	S	+	1	0	FPR2	56964708	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.448000	0.06820	-0.510000	0.06523	0.397000	0.26171	TCA	FPR2	-	prints_DEZorph_rcpt	ENSG00000171049		0.547	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	-	0	39	0	T	NM_001005738		52272896	1	tier1	-	no_errors	ENST00000340023	ensembl	human	known	74_37	missense	16.00	42	8	SNP	0.001	G	G	52272896	T	G	52272896	3	3	70	1	0	0	0	0	1	0	0	0	6063	1551	54	4	987	4	FPR2	19	52272896	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	8415014	52272896	6856087	147	19113											
ZNF649	65251	genome.wustl.edu	37	chr19	52399785	52399785	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtggttctccttgttccaActtggtgagggcatcaggtt	6	15	12	8	0	2	1	1	1	1	0	4	1	3	1	2	4	1	4	2	4	2	6			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:52399785A>C	ENST00000354957.3	-	4	462	c.178T>G	c.(178-180)Ttg>Gtg	p.L60V	ZNF649_ENST00000600738.1_Missense_Mutation_p.L60V|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CCTTGTTCCAACTTGGTGAGG	0.517																																																	0													179	137	151					19																	52399785		2203	4300	6503	SO:0001583	missense	0			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"Zinc fingers, C2H2-type", "-"	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.178T>G	19.37:g.52399785A>C	ENSP00000347043:p.Leu60Val		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L60V	ENST00000354957.3	37	c.178	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	A	12.37	1.917616	0.33815	.	.	ENSG00000198093	ENST00000354957	T	0.00958	5.5	1.95	-0.359	0.12571	Krueppel-associated box (3);	.	.	.	.	T	0.02047	0.0064	M	0.78916	2.43	0.09310	N	1	D	0.56968	0.978	P	0.49829	0.623	T	0.41574	-0.9501	9	0.87932	D	0	.	2.4618	0.04543	0.5191:0.2955:0.1854:0.0	.	60	Q9BS31	ZN649_HUMAN	V	60	ENSP00000347043:L60V	ENSP00000347043:L60V	L	-	1	2	ZNF649	57091597	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	-0.542000	0.06091	-0.159000	0.11021	0.443000	0.29094	TTG	ZNF649	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198093		0.517	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	-	0	101	0	A	NM_023074		52399785	-1	tier1	-	no_errors	ENST00000354957	ensembl	human	known	74_37	missense	29.29	70	29	SNP	0.010	C	C	52399785	A	C	52399785	3	2	70	1	0	0	0	0	1	0	0	0	18112	40	2	4	1347	4	ZNF649	19	52399785	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	126889	52399785	6729198	148	19114											
PPP1R12C	54776	genome.wustl.edu	37	chr19	55614912	55614912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaattcctcttctgccCgcttggctgcttccacatcc	5	12	8	16	1	2	0	0	0	2	0	5	1	5	1	4	2	3	4	4	2	1	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr19:55614912C>T	ENST00000263433.3	-	4	611	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.R199Q|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.R125Q	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		CTCTTCTGCCCGCTTGGCTGC	0.622																																																	0													47	39	41					19																	55614912		2203	4299	6502	SO:0001583	missense	0			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14947	protein-coding gene	gene with protein product	"myosin-binding subunit 85"	613245	"leukocyte receptor cluster (LRC) member 3", "protein phosphatase 1, regulatory (inhibitor) subunit 12C"	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.596G>A	19.37:g.55614912C>T	ENSP00000263433:p.Arg199Gln			Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R199Q	ENST00000263433.3	37	c.596	CCDS12916.1	19	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435420	0.43224	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	T;T;T	0.52983	0.64;0.64;0.64	5.25	4.2	0.49525	Ankyrin repeat-containing domain (3);	0.069829	0.56097	D	0.000038	T	0.56804	0.2010	L	0.45051	1.395	0.42256	D	0.991998	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.63703	0.863;0.864;0.917	T	0.56733	-0.7930	10	0.41790	T	0.15	.	13.2966	0.60301	0.1598:0.8402:0.0:0.0	.	125;199;199	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	Q	199;199;125	ENSP00000263433:R199Q;ENSP00000365573:R199Q;ENSP00000387833:R125Q	ENSP00000263433:R199Q	R	-	2	0	PPP1R12C	60306724	0.903000	0.30736	0.995000	0.50966	0.002000	0.02628	1.769000	0.38522	1.330000	0.45394	-0.188000	0.12872	CGG	PPP1R12C	-	pirsf_Pase-1_reg_su_12A/B/C_euk,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000125503		0.622	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12C	HGNC	protein_coding	OTTHUMT00000451814.2		0	52	0	C	NM_017607		55614912	-1			no_errors	ENST00000263433	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.995	T	T	55614912	C	T	55614912	3	4	70	1	0	0	0	0	1	0	0	0	12398	652	23	1	1828	1	PPP1R12C	19	55614912	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	3215127	55614912	3514071	149	19115											
JPH2	57158	genome.wustl.edu	37	chr20	42744491	42744491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctcggggcctcggagCgtgggggcctgcagcggggc	3	4	22	12	4	0	0	0	0	0	0	2	1	0	1	2	8	3	3	2	8	0	0			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr20:42744491C>T	ENST00000372980.3	-	4	2696	c.1824G>A	c.(1822-1824)acG>acA	p.T608T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	608	Pro-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTCGGAGCGTGGGGGCCT	0.751																																																	0													7	9	9					20																	42744491		2126	4187	6313	SO:0001819	synonymous_variant	0			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1824G>A	20.37:g.42744491C>T			E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.T608	ENST00000372980.3	37	c.1824	CCDS13325.1	20																																																																																			JPH2	-	pirsf_Junctophilin	ENSG00000149596		0.751	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1		0	8	0	C			42744491	-1			no_errors	ENST00000372980	ensembl	human	known	74_37	silent	60.00	2	3	SNP	0.003	T	T	42744491	C	T	42744491	2	4	70	1	0	0	0	0	0	0	0	1	7988	755	27	1		1	JPH2	20	42744491	Silent	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09		42744491	20281029	150	19116											
JPH2	57158	genome.wustl.edu	37	chr20	42788669	42788669	+	Frame_Shift_Del	DEL	A	A	-																															cgtcgctggcgcccgagctgAggtcgctcttaaggaagctg																										TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr20:42788669delA	ENST00000372980.3	-	2	1630	c.758delT	c.(757-759)ctcfs	p.L253fs		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	253					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCGAGCTGAGGTCGCTCTT	0.731																																																	0													9	11	10					20																	42788669		2138	4131	6269	SO:0001589	frameshift_variant	0			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.758delT	20.37:g.42788669delA	ENSP00000362071:p.Leu253fs		E1P5X1|O95913|Q5JY74|Q9UJN4	Frame_Shift_Del	DEL	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.L253fs	ENST00000372980.3	37	c.758	CCDS13325.1	20																																																																																			JPH2	-	pirsf_Junctophilin	ENSG00000149596		0.731	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH2	HGNC	protein_coding	OTTHUMT00000080307.1		0	39	0	A			42788669	-1	tier1		no_errors	ENST00000372980	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	1.000	-	-	42788669	A	-	42788669	7	5	70	1	0	1	0	1	0	0	0	0	7988	304	11	0	1348	0	JPH2	20	42788669	Frame_Shift_Del	DEL	A	TCGA-L5-A4OX-01A-21D-A28B-09	44178	42788669	20236851	151	19117											
SEMG2	6407	genome.wustl.edu	37	chr20	43851408	43851408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagtatttcgatccaaactGaagagcaaatacatggcaag	16	8	9	8	1	0	2	0	1	0	1	2	3	1	2	1	1	3	4	1	1	6	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr20:43851408G>A	ENST00000372769.3	+	2	1225	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	379	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GATCCAAACTGAAGAGCAAAT	0.383																																																	0													77	73	74					20																	43851408		2203	4300	6503	SO:0001583	missense	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1135G>A	20.37:g.43851408G>A	ENSP00000361855:p.Glu379Lys		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	pfam_Semenogelin	p.E379K	ENST00000372769.3	37	c.1135	CCDS13346.1	20	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922811	0.33908	.	.	ENSG00000124157	ENST00000372769	T	0.12984	2.63	1.05	-0.0612	0.13786	.	.	.	.	.	T	0.28067	0.0692	M	0.80616	2.505	0.09310	N	1	D;D;P	0.59767	0.975;0.986;0.951	P;P;P	0.59595	0.682;0.86;0.766	T	0.08932	-1.0698	9	0.46703	T	0.11	.	4.828	0.13427	0.0:0.3972:0.6028:0.0	.	379;379;379	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	K	379	ENSP00000361855:E379K	ENSP00000361855:E379K	E	+	1	0	SEMG2	43284822	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.069000	0.11542	-0.010000	0.14271	-0.688000	0.03733	GAA	SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.383	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1	-	0	21	0	G	NM_003008		43851408	1	tier1	-	no_errors	ENST00000372769	ensembl	human	known	74_37	missense	50.00	20	20	SNP	0.000	A	A	43851408	G	A	43851408	3	1	70	1	0	0	0	0	1	0	0	0	14090	1291	45	3	1141	3	SEMG2	20	43851408	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	1062739	43851408	19174112	152	19118											
NKAIN4	128414	genome.wustl.edu	37	chr20	61878933	61878933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttccccacgctcaccgcGatcaggatctgcaggcaact	8	7	8	18	3	3	0	2	0	1	0	4	2	4	1	4	2	2	3	4	2	1	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr20:61878933G>A	ENST00000370316.3	-	4	557	c.468C>T	c.(466-468)atC>atT	p.I156I	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370313.1_Silent_p.I94I|NKAIN4_ENST00000370307.2_Silent_p.I94I	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					CGCTCACCGCGATCAGGATCT	0.701																																																	0																																										SO:0001819	synonymous_variant	0			BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"Na+/K+ transporting ATPase interacting"	16191	protein-coding gene	gene with protein product		612873	"chromosome 20 open reading frame 58"	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.468C>T	20.37:g.61878933G>A			Q4VXQ6|Q9BQU8|Q9BQU9	Silent	SNP	pfam_Na/K-Atpase_Interacting	p.I156	ENST00000370316.3	37	c.468	CCDS13514.1	20																																																																																			NKAIN4	-	pfam_Na/K-Atpase_Interacting	ENSG00000101198		0.701	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN4	HGNC	protein_coding	OTTHUMT00000080117.3	-	0	106	0	G	NM_152864		61878933	-1	tier1	-	no_errors	ENST00000370316	ensembl	human	known	74_37	silent	17.72	65	14	SNP	0.722	A	A	61878933	G	A	61878933	2	1	70	1	0	0	0	0	0	0	0	1	10477	1048	37	1		1	NKAIN4	20	61878933	Silent	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	18027525	61878933	1146587	153	19119											
BAGE2	85319	genome.wustl.edu	37	chr21	11058233	11058233	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcctgaaaggtgtcggCtcctgcagcacaaggataat	13	8	11	9	1	0	1	0	1	0	0	3	3	2	2	2	3	2	3	2	3	4	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr21:11058233C>A	ENST00000470054.1	-	0	414							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGGTGTCGGCTCCTGCAGCA	0.428																																																	0													89	71	77					21																	11058233		692	1591	2283			0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058233C>A			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-	ENSG00000187172		0.428	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	-	0	147	0	C	NM_182482		11058233	-1	tier1	-	no_errors	ENST00000470054	ensembl	human	known	74_37	rna	11.73	143	19	SNP	1.000	A	A	11058233	C	A	11058233	1	1	70	0	1	0	0	0	0	0	0	0	1293	796	28	3		3	BAGE2	21	11058233	RNA	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09		11058233	37071662	154	19120											
GAB4	128954	genome.wustl.edu	37	chr22	17488926	17488926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccggcggggccacttcCgggccacgaagacaaaggcg	8	3	15	15	6	0	1	0	0	0	1	2	2	2	1	5	5	0	0	5	5	2	1			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr22:17488926C>T	ENST00000400588.1	-	1	186	c.79G>A	c.(79-81)Gga>Aga	p.G27R	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	27										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGCCACTTCCGGGCCACGAA	0.662																																																	0													15	19	17					22																	17488926		2080	4202	6282	SO:0001583	missense	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.79G>A	22.37:g.17488926C>T	ENSP00000383431:p.Gly27Arg			Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G27R	ENST00000400588.1	37	c.79	CCDS42976.1	22	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668781	0.29604	.	.	ENSG00000215568	ENST00000400588	T	0.11712	2.75	0.637	-0.52	0.11935	.	.	.	.	.	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68192	0.956	T	0.31223	-0.9951	8	0.16420	T	0.52	.	.	.	.	.	27	Q2WGN9	GAB4_HUMAN	R	27	ENSP00000383431:G27R	ENSP00000383431:G27R	G	-	1	0	GAB4	15868926	0.013000	0.17824	0.007000	0.13788	0.029000	0.11900	0.023000	0.13533	-0.228000	0.09869	0.313000	0.20887	GGA	GAB4	-	NULL	ENSG00000215568		0.662	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	-	0	79	0	C	XM_372882		17488926	-1	tier1	-	no_errors	ENST00000400588	ensembl	human	known	74_37	missense	31.67	41	19	SNP	0.008	T	T	17488926	C	T	17488926	3	4	70	1	0	0	0	0	1	0	0	0	6175	661	23	1	1685	1	GAB4	22	17488926	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09		17488926	33815640	155	19121											
PARVG	64098	genome.wustl.edu	37	chr22	44602215	44602215	+	Frame_Shift_Del	DEL	C	C	-																															agatatcgtgaacaaggatgCcaagagcacactgagggtgc																										TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr22:44602215delC	ENST00000444313.3	+	14	1389	c.905delC	c.(904-906)gccfs	p.A302fs	PARVG_ENST00000415224.1_Frame_Shift_Del_p.A302fs|PARVG_ENST00000422871.1_Frame_Shift_Del_p.A302fs	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	302	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AACAAGGATGCCAAGAGCACA	0.602																																																	0													82	76	78					22																	44602215		2203	4300	6503	SO:0001589	frameshift_variant	0			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"Parvins"	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.905delC	22.37:g.44602215delC	ENSP00000391583:p.Ala302fs		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Frame_Shift_Del	DEL	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.K303fs	ENST00000444313.3	37	c.905	CCDS14057.1	22																																																																																			PARVG	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000138964		0.602	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVG	HGNC	protein_coding	OTTHUMT00000318238.4		0	51	0	C	NM_022141		44602215	1	tier1		no_errors	ENST00000415224	ensembl	human	known	74_37	frame_shift_del	19.44	29	7	DEL	0.993	-	-	44602215	C	-	44602215	7	5	70	1	0	1	0	1	0	0	0	0	11509	739	26	0	951	0	PARVG	22	44602215	Frame_Shift_Del	DEL	C	TCGA-L5-A4OX-01A-21D-A28B-09	27113289	44602215	6702351	156	19122											
TUBGCP6	85378	genome.wustl.edu	37	chr22	50656356	50656356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcctcacctttgaagaGaaagtgggagtagtacttga	11	10	14	6	0	1	3	1	2	0	1	1	5	1	4	2	2	1	2	2	2	4	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chr22:50656356G>T	ENST00000248846.5	-	24	5463	c.5359C>A	c.(5359-5361)Ctc>Atc	p.L1787I	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1787					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCTTTGAAGAGAAAGTGGGAG	0.662																																																	0													22	24	23					22																	50656356		2197	4292	6489	SO:0001583	missense	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5359C>A	22.37:g.50656356G>T	ENSP00000248846:p.Leu1787Ile		Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_TUBGCP	p.L1787I	ENST00000248846.5	37	c.5359	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321212	0.81580	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.47177	2.33;0.85	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.996;0.998	T	0.67003	-0.5780	10	0.72032	D	0.01	.	12.0013	0.53232	0.0923:0.0:0.9077:0.0	.	1779;1787;1770	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	I	1787;456	ENSP00000248846:L1787I;ENSP00000405979:L456I	ENSP00000248846:L1787I	L	-	1	0	TUBGCP6	48998483	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.230000	0.72301	2.244000	0.73946	0.455000	0.32223	CTC	TUBGCP6	-	NULL	ENSG00000128159		0.662	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	-	0	73	0	G	NM_020461		50656356	-1	tier1	-	no_errors	ENST00000248846	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	T	T	50656356	G	T	50656356	3	4	70	1	0	0	0	0	1	0	0	0	16819	942	33	3	108	3	TUBGCP6	22	50656356	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	6054141	50656356	648210	157	19123											
MAGEB10	139422	genome.wustl.edu	37	chrX	27840074	27840074	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacaaatggcaattgTgtcgctgaggaggaagtctg	11	11	12	7	1	3	1	1	1	2	0	4	3	3	3	0	3	0	2	0	3	3	2			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:27840074T>A	ENST00000356790.2	+	3	896	c.651T>A	c.(649-651)tgT>tgA	p.C217*		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	217	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ATGGCAATTGTGTCGCTGAGG	0.483																																																	0													66	54	58					X																	27840074		2201	4299	6500	SO:0001587	stop_gained	0				CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.651T>A	X.37:g.27840074T>A	ENSP00000368304:p.Cys217*		Q494Y6|Q494Y7|Q9BZ78	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.C217*	ENST00000356790.2	37	c.651	CCDS35221.1	X	.	.	.	.	.	.	.	.	.	.	T	15.91	2.972381	0.53614	.	.	ENSG00000177689	ENST00000356790	.	.	.	2.62	-3.52	0.04682	.	0.623523	0.14376	U	0.323432	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	3.3879	0.07278	0.2102:0.4301:0.0:0.3597	.	.	.	.	X	217	.	ENSP00000368304:C217X	C	+	3	2	MAGEB10	27749995	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.858000	0.04281	-0.986000	0.03498	-0.660000	0.03859	TGT	MAGEB10	-	pfam_MAGE,pfscan_MAGE	ENSG00000177689		0.483	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB10	HGNC	protein_coding	OTTHUMT00000106216.1	-	0	15	0	T	NM_182506		27840074	1	tier1	-	no_errors	ENST00000356790	ensembl	human	known	74_37	nonsense	63.16	7	12	SNP	0.000	A	A	27840074	T	A	27840074	4	1	70	1	0	0	0	0	0	1	0	0	9211	1702	59	5	653	5	MAGEB10	23	27840074	Nonsense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09		27840074	127430486	158	19124											
FAM46D	169966	genome.wustl.edu	37	chrX	79698478	79698478	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgattgttggagtcttaTctccctttcaaataacactg	10	15	7	9	0	3	1	1	1	2	0	4	2	3	2	1	1	1	2	1	1	3	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:79698478T>G	ENST00000308293.5	+	3	679	c.440T>G	c.(439-441)aTc>aGc	p.I147S	FAM46D_ENST00000538312.1_Missense_Mutation_p.I147S	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	147										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGGAGTCTTATCTCCCTTTCA	0.368																																																	0													106	102	103					X																	79698478		2203	4299	6502	SO:0001583	missense	0			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"cancer/testis antigen 112"					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.440T>G	X.37:g.79698478T>G	ENSP00000308575:p.Ile147Ser		B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	pfam_DUF1693	p.I147S	ENST00000308293.5	37	c.440	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562946	0.45694	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.26518	1.73;1.73	4.47	4.47	0.54385	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.54351	0.1853	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62426	-0.6857	10	0.87932	D	0	-11.3509	11.7985	0.52114	0.0:0.0:0.0:1.0	.	147	Q8NEK8	FA46D_HUMAN	S	147	ENSP00000443410:I147S;ENSP00000308575:I147S	ENSP00000308575:I147S	I	+	2	0	FAM46D	79585134	1.000000	0.71417	0.998000	0.56505	0.383000	0.30230	7.534000	0.82004	1.659000	0.50751	0.481000	0.45027	ATC	FAM46D	-	pfam_DUF1693	ENSG00000174016		0.368	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	-	0	33	0	T	NM_152630		79698478	1	tier1	-	no_errors	ENST00000308293	ensembl	human	known	74_37	missense	62.50	18	30	SNP	1.000	G	G	79698478	T	G	79698478	3	3	70	1	0	0	0	0	1	0	0	0	5590	1435	50	4	442	4	FAM46D	23	79698478	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	51858404	79698478	75572082	159	19125											
RNF113A	7737	genome.wustl.edu	37	chrX	119005267	119005267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccacgggtttcgccgaacGggtggatttataaaccacgc	9	9	11	12	5	0	0	0	0	0	0	2	2	1	1	3	3	2	1	3	3	4	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:119005267G>A	ENST00000371442.2	-	1	524	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	104							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TTCGCCGAACGGGTGGATTTA	0.557																																																	0													164	166	166					X																	119005267		2203	4300	6503	SO:0001583	missense	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"RING-type (C3HC4) zinc fingers"	12974	protein-coding gene	gene with protein product			"zinc finger protein 183 (RING finger, C3HC4 type)"	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.310C>T	X.37:g.119005267G>A	ENSP00000360497:p.Arg104Cys		B2RBR7	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.R104C	ENST00000371442.2	37	c.310	CCDS14589.1	X	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445913	0.84101	.	.	ENSG00000125352	ENST00000371442	T	0.35789	1.29	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.73817	-0.3863	10	0.87932	D	0	0.3625	15.7553	0.78018	0.0:0.0:1.0:0.0	.	104	O15541	R113A_HUMAN	C	104	ENSP00000360497:R104C	ENSP00000360497:R104C	R	-	1	0	RNF113A	118889295	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.896000	0.56266	2.318000	0.78349	0.600000	0.82982	CGT	RNF113A	-	NULL	ENSG00000125352		0.557	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	-	0	21	0	G	NM_006978		119005267	-1	tier1	-	no_errors	ENST00000371442	ensembl	human	known	74_37	missense	59.09	9	13	SNP	1.000	A	A	119005267	G	A	119005267	3	1	70	1	0	0	0	0	1	0	0	0	13472	1116	39	1	725	1	RNF113A	23	119005267	Missense_Mutation	SNP	G	TCGA-L5-A4OX-01A-21D-A28B-09	39306789	119005267	36265293	160	19126											
USP26	83844	genome.wustl.edu	37	chrX	132161204	132161205	+	Frame_Shift_Ins	INS	-	-	A																															tctatattataggtatctttINSaaaaaaaagtagccgtgcca																								rs61758857		TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:132161204_132161205insA	ENST00000511190.1	-	6	1513_1514	c.1044_1045insT	c.(1042-1047)tttaaafs	p.K349fs	USP26_ENST00000370832.1_Frame_Shift_Ins_p.K349fs|USP26_ENST00000406273.1_Frame_Shift_Ins_p.K349fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	349	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.F348fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TAGGTATCTTTAAAAAAAAGTA	0.386																																					NSCLC(104;342 1621 36940 47097 52632)												1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CM077651	USP26	M	rs61758857																																			SO:0001589	frameshift_variant	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1045dupT	X.37:g.132161212_132161212dupA	ENSP00000423390:p.Lys349fs		B9WRT6|Q5H9H4	Frame_Shift_Ins	INS	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.K348fs	ENST00000511190.1	37	c.1045_1044	CCDS14635.1	X																																																																																			USP26	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000134588		0.386	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1		0	48	0	-	NM_031907		132161205	-1	tier1		no_errors	ENST00000370832	ensembl	human	known	74_37	frame_shift_ins	65.45	19	36	INS	0.813:0.541	A	A	132161205	-	A	132161204	7	5	70	1	0	1	1	0	0	0	0	0	17106	1763	61	0	1699	0	USP26	23	132161204	Frame_Shift_Ins	INS	-	TCGA-L5-A4OX-01A-21D-A28B-09	13155937	132161204	23109356	161	19127											
MCF2	4168	genome.wustl.edu	37	chrX	138678769	138678769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctccactttcaacaCgccttttgcaaaaaacaatg	13	11	4	13	1	2	0	1	0	1	0	3	0	2	0	3	0	4	1	3	0	5	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:138678769C>T	ENST00000370576.4	-	19	2425	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	MCF2_ENST00000520602.1_Missense_Mutation_p.R799H|MCF2_ENST00000414978.1_Missense_Mutation_p.R799H|MCF2_ENST00000519895.1_Missense_Mutation_p.R815H|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370578.4_Missense_Mutation_p.R884H|MCF2_ENST00000536274.1_Missense_Mutation_p.R700H|MCF2_ENST00000338585.6_Missense_Mutation_p.R755H|MCF2_ENST00000370573.4_Missense_Mutation_p.R739H	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	739	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ACTTTCAACACGCCTTTTGCA	0.383																																																	0													107	88	94					X																	138678769		2203	4300	6503	SO:0001583	missense	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2216G>A	X.37:g.138678769C>T	ENSP00000359608:p.Arg739His		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R884H	ENST00000370576.4	37	c.2651	CCDS14667.1	X	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948071	0.92593	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T;T	0.56611	0.99;0.88;0.79;0.99;0.99;0.45;1.05;0.9;0.95	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.80401	0.4616	M	0.93197	3.39	0.48830	D	0.999716	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;P;P;P;P;D;P	0.87578	0.834;0.994;0.886;0.834;0.886;0.834;0.998;0.834	D	0.85413	0.1138	10	0.66056	D	0.02	.	17.6181	0.88073	0.0:1.0:0.0:0.0	.	815;884;700;739;739;884;755;739	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	H	799;739;700;884;799;342;815;739;755	ENSP00000427745:R799H;ENSP00000359608:R739H;ENSP00000438155:R700H;ENSP00000359610:R884H;ENSP00000397055:R799H;ENSP00000405848:R342H;ENSP00000430276:R815H;ENSP00000359605:R739H;ENSP00000342204:R755H	ENSP00000342204:R755H	R	-	2	0	MCF2	138506435	1.000000	0.71417	0.719000	0.30619	0.940000	0.58332	6.066000	0.71185	2.376000	0.81061	0.600000	0.82982	CGT	MCF2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000101977		0.383	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	-	0	39	0	C	NM_005369		138678769	-1	tier1	-	no_errors	ENST00000370578	ensembl	human	known	74_37	missense	87.50	7	49	SNP	1.000	T	T	138678769	C	T	138678769	3	4	70	1	0	0	0	0	1	0	0	0	9416	536	19	1	617	1	MCF2	23	138678769	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	6517565	138678769	16591791	162	19128											
MAGEC1	9947	genome.wustl.edu	37	chrX	140993851	140993851	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagagttcccctgagagaActcagagtacttttgagggt	10	11	11	9	0	1	5	1	2	0	3	3	6	3	5	3	1	2	2	3	1	2	4			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:140993851A>C	ENST00000285879.4	+	4	947	c.661A>C	c.(661-663)Act>Cct	p.T221P	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	221				TQSTF -> SQRTS (in Ref. 1 and 2). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAGAGAACTCAGAGTAC	0.493										HNSCC(15;0.026)																																							0													116	122	120					X																	140993851		2202	4294	6496	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.661A>C	X.37:g.140993851A>C	ENSP00000285879:p.Thr221Pro		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.T221P	ENST00000285879.4	37	c.661	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	-	0.664	-0.804761	0.02819	.	.	ENSG00000155495	ENST00000285879	T	0.03831	3.79	.	.	.	.	.	.	.	.	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.47749	-0.9093	8	0.23302	T	0.38	.	2.1236	0.03731	0.5009:2.0E-4:2.0E-4:0.4988	.	221	O60732	MAGC1_HUMAN	P	221	ENSP00000285879:T221P	ENSP00000285879:T221P	T	+	1	0	MAGEC1	140821517	0.000000	0.05858	0.047000	0.18901	0.047000	0.14425	-0.549000	0.06041	0.046000	0.15833	0.046000	0.15203	ACT	MAGEC1	-	NULL	ENSG00000155495		0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	109	0	A	NM_005462		140993851	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	5.81	161	10	SNP	0.069	C	C	140993851	A	C	140993851	3	2	70	1	0	0	0	0	1	0	0	0	9218	43	2	4	667	4	MAGEC1	23	140993851	Missense_Mutation	SNP	A	TCGA-L5-A4OX-01A-21D-A28B-09	2315082	140993851	14276709	163	19129											
MAGEC1	9947	genome.wustl.edu	37	chrX	140996374	140996374	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccgggaggtgcccaacTcttctcctcctcgttacgaa	8	10	9	14	3	2	0	0	0	2	0	5	2	3	1	4	2	4	2	4	2	4	3			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:140996374T>G	ENST00000285879.4	+	4	3470	c.3184T>G	c.(3184-3186)Tct>Gct	p.S1062A	MAGEC1_ENST00000406005.2_Missense_Mutation_p.S129A	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1062	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCCCAACTCTTCTCCTCC	0.512										HNSCC(15;0.026)																																							0													117	112	113					X																	140996374		2203	4300	6503	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.3184T>G	X.37:g.140996374T>G	ENSP00000285879:p.Ser1062Ala		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S1062A	ENST00000285879.4	37	c.3184	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	t	6.650	0.488422	0.12641	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.05447	3.44;3.44	0.837	-0.76	0.11041	.	.	.	.	.	T	0.09158	0.0226	M	0.83312	2.635	0.09310	N	1	B	0.27910	0.193	B	0.19946	0.027	T	0.22800	-1.0206	8	0.87932	D	0	.	.	.	.	.	1062	O60732	MAGC1_HUMAN	A	1062;129	ENSP00000285879:S1062A;ENSP00000385500:S129A	ENSP00000285879:S1062A	S	+	1	0	MAGEC1	140824040	0.001000	0.12720	0.005000	0.12908	0.070000	0.16714	-0.016000	0.12613	-0.247000	0.09597	-1.329000	0.01275	TCT	MAGEC1	-	pfam_MAGE,pfscan_MAGE	ENSG00000155495		0.512	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	24	0	T	NM_005462		140996374	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	62.00	19	31	SNP	0.004	G	G	140996374	T	G	140996374	3	3	70	1	0	0	0	0	1	0	0	0	9218	1551	54	4	3190	4	MAGEC1	23	140996374	Missense_Mutation	SNP	T	TCGA-L5-A4OX-01A-21D-A28B-09	2523	140996374	14274186	164	19130											
F8	2157	genome.wustl.edu	37	chrX	154158008	154158008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccactgggttgaggtgtcatCcacaattatccttttttcaa	9	15	7	10	0	2	1	2	1	0	0	4	1	4	1	3	2	0	1	3	2	3	5			TCGA-L5-A4OX-01A-21D-A28B-09	TCGA-L5-A4OX-11A-13D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a0100a84-b16a-432c-935b-67a81d52dbb4	de784953-ec41-44ff-bd65-be7385844fca	g.chrX:154158008C>T	ENST00000360256.4	-	14	4257	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1353	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GAGGTGTCATCCACAATTATC	0.428																																																	0													256	212	227					X																	154158008		2203	4300	6503	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"Factor VIIIF8B", "hemophilia A"	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4057G>A	X.37:g.154158008C>T	ENSP00000353393:p.Asp1353Asn		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.D1353N	ENST00000360256.4	37	c.4057	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	c	0.198	-1.046932	0.01997	.	.	ENSG00000185010	ENST00000360256	D	0.98684	-5.07	4.71	-0.201	0.13212	.	0.535928	0.16889	N	0.195367	D	0.91788	0.7402	N	0.02247	-0.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.85151	0.0986	10	0.13108	T	0.6	-2.2887	9.3228	0.37975	0.0:0.1436:0.0:0.8564	.	1353	P00451	FA8_HUMAN	N	1353	ENSP00000353393:D1353N	ENSP00000353393:D1353N	D	-	1	0	F8	153811202	0.007000	0.16637	0.001000	0.08648	0.008000	0.06430	-0.072000	0.11486	-0.354000	0.08212	-0.195000	0.12781	GAT	F8	-	NULL	ENSG00000185010		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-	0	82	0	C			154158008	-1	tier1	-	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	31.40	59	27	SNP	0.001	T	T	154158008	C	T	154158008	3	4	70	1	0	0	0	0	1	0	0	0	5366	855	30	3	3078	3	F8	23	154158008	Missense_Mutation	SNP	C	TCGA-L5-A4OX-01A-21D-A28B-09	13161634	154158008	1112552	165	19131											
EXOSC10	5394	genome.wustl.edu	37	chr1	11137657	11137657	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaacagatccgacactctaCctcagcactgggcagcggtc	12	6	9	14	2	2	1	1	0	1	1	4	2	3	1	2	2	4	2	2	2	3	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:11137657C>T	ENST00000376936.4	-	15	1850		c.e15+1		EXOSC10_ENST00000544779.1_Missense_Mutation_p.V601I|EXOSC10_ENST00000304457.7_Splice_Site	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10						CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CGACACTCTACCTCAGCACTG	0.532																																					Colon(179;105 1987 14326 27364 29542)												0													82	76	78					1																	11137657		2203	4300	6503	SO:0001630	splice_region_variant	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1800+1G>A	1.37:g.11137657C>T			B1AKQ0|B1AKQ1|Q15158	Splice_Site	SNP	-	e15+1	ENST00000376936.4	37	c.1800+1	CCDS30584.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.18|16.18	3.049624|3.049624	0.55218|0.55218	.|.	.|.	ENSG00000171824|ENSG00000171824	ENST00000376936;ENST00000304457|ENST00000544779	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53400	.|0.1794	.|.	.|.	.|.	0.18873|0.18873	N|N	0.999981|0.999981	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47898	.|-0.9081	.|4	.|.	.|.	.|.	.|.	17.4879|17.4879	0.87693|0.87693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|601	.|.	.|.	.|V	-|-	.|1	.|0	EXOSC10|EXOSC10	11060244|11060244	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.648000|0.648000	0.38561|0.38561	4.666000|4.666000	0.61554|0.61554	2.430000|2.430000	0.82344|0.82344	0.563000|0.563000	0.77884|0.77884	.|GTA	EXOSC10	-	-	ENSG00000171824		0.532	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1		0	25	0	C	NM_001001998	Intron	11137657	-1			no_errors	ENST00000376936	ensembl	human	known	74_37	splice_site	10.26	35	4	SNP	1.000	T	T	11137657	C	T	11137657	5	4	71	1	0	0	0	0	0	0	1	0	5330	521	18	3	900	3	EXOSC10	1	11137657	Splice_Site	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09		11137657	238112964	1	19132											
FGR	2268	genome.wustl.edu	37	chr1	27942244	27942244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcccagccggcgctccAgcgtgatggagctgcggctg	4	6	17	14	5	0	1	0	1	0	0	1	2	1	2	3	4	5	3	3	4	0	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:27942244A>G	ENST00000374005.3	-	8	1082	c.794T>C	c.(793-795)cTg>cCg	p.L265P	FGR_ENST00000399173.1_Missense_Mutation_p.L265P|FGR_ENST00000374004.1_Missense_Mutation_p.L265P|FGR_ENST00000545953.1_Missense_Mutation_p.L199P	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	FGR proto-oncogene, Src family tyrosine kinase	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|defense response to Gram-positive bacterium (GO:0050830)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of innate immune response (GO:0045088)|regulation of phagocytosis (GO:0050764)|regulation of protein kinase activity (GO:0045859)|response to virus (GO:0009615)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|Fc-gamma receptor I complex binding (GO:0034988)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphotyrosine binding (GO:0001784)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGCGCTCCAGCGTGATGGA	0.711																																																	0													13	16	15					1																	27942244		2192	4295	6487	SO:0001583	missense	0			BC064382	CCDS305.1	1p36.2-p36.1	2014-06-25	2014-06-25		ENSG00000000938	ENSG00000000938		"SH2 domain containing"	3697	protein-coding gene	gene with protein product		164940	"Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog", "v-fgr feline Gardner-Rasheed sarcoma viral oncogene homolog", "feline Gardner-Rasheed sarcoma viral oncogene homolog"	SRC2		3922831	Standard	NM_001042729		Approved	c-fgr, p55c-fgr	uc001bom.3	P09769	OTTHUMG00000003516	ENST00000374005.3:c.794T>C	1.37:g.27942244A>G	ENSP00000363117:p.Leu265Pro		D3DPL7|Q9UIQ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L265P	ENST00000374005.3	37	c.794	CCDS305.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.385957	0.82902	.	.	ENSG00000000938	ENST00000374005;ENST00000545953;ENST00000399173;ENST00000374004;ENST00000374003;ENST00000457296	D;T;D;D;D;D	0.84730	-1.89;1.59;-1.89;-1.89;-1.89;-1.89	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);SH2 motif (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000247	D	0.92808	0.7713	M	0.88704	2.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.75020	0.985	D	0.94063	0.7328	10	0.87932	D	0	.	13.5589	0.61777	1.0:0.0:0.0:0.0	.	265	P09769	FGR_HUMAN	P	265;199;265;265;265;265	ENSP00000363117:L265P;ENSP00000445302:L199P;ENSP00000382126:L265P;ENSP00000363116:L265P;ENSP00000363115:L265P;ENSP00000407670:L265P	ENSP00000363115:L265P	L	-	2	0	FGR	27814831	1.000000	0.71417	0.039000	0.18376	0.984000	0.73092	9.334000	0.96470	2.029000	0.59856	0.459000	0.35465	CTG	FGR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000000938		0.711	FGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGR	HGNC	protein_coding	OTTHUMT00000009772.1	-	0	38	0	A	NM_005248		27942244	-1	tier1	-	no_errors	ENST00000374003	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.816	G	G	27942244	A	G	27942244	3	3	71	1	0	0	0	0	1	0	0	0	5896	188	7	4	819	4	FGR	1	27942244	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	16804587	27942244	221308377	2	19133											
NCDN	23154	genome.wustl.edu	37	chr1	36028933	36028933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcacatcccctggccacGacacctcggtgctgcctgac	8	7	8	18	2	1	1	1	1	0	0	3	2	2	1	5	2	3	1	5	2	1	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:36028933G>A	ENST00000373243.2	+	5	1899	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	NCDN_ENST00000356090.4_Missense_Mutation_p.D506N|NCDN_ENST00000373253.3_Missense_Mutation_p.D489N	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	506					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTGGCCACGACACCTCGGT	0.612																																																	0													109	106	107					1																	36028933		2203	4300	6503	SO:0001583	missense	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1516G>A	1.37:g.36028933G>A	ENSP00000362340:p.Asp506Asn		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.D506N	ENST00000373243.2	37	c.1516	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.234886	0.22626	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	.	.	.	4.71	3.8	0.43715	.	0.273852	0.34725	N	0.003734	T	0.24160	0.0585	N	0.14661	0.345	0.22266	N	0.999241	B	0.19331	0.035	B	0.10450	0.005	T	0.13980	-1.0489	9	0.37606	T	0.19	.	8.9912	0.36026	0.1832:0.0:0.8168:0.0	.	506	Q9UBB6	NCDN_HUMAN	N	489;506;506	.	ENSP00000348394:D506N	D	+	1	0	NCDN	35801520	0.567000	0.26626	0.997000	0.53966	0.990000	0.78478	1.906000	0.39887	0.973000	0.38340	0.462000	0.41574	GAC	NCDN	-	NULL	ENSG00000020129		0.612	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	-	0	38	0	G	NM_014284		36028933	1	tier1	-	no_errors	ENST00000356090	ensembl	human	known	74_37	missense	39.13	28	18	SNP	0.465	A	A	36028933	G	A	36028933	3	1	71	1	0	0	0	0	1	0	0	0	10253	1058	37	1	1534	1	NCDN	1	36028933	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	8086689	36028933	213221688	3	19134											
ZC3H12A	80149	genome.wustl.edu	37	chr1	37948688	37948688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actggctcccacagacgctgGactcactcccgtacgtctcc	7	8	8	18	3	2	1	1	0	1	1	5	2	4	2	3	2	1	3	3	2	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:37948688G>C	ENST00000373087.6	+	6	1392	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACAGACGCTGGACTCACTCCC	0.642																																																	0													18	21	20					1																	37948688		2203	4299	6502	SO:0001583	missense	0				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"Zinc fingers, CCCH-type domain containing"	26259	protein-coding gene	gene with protein product	"MCP induced protein 1"	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.1276G>C	1.37:g.37948688G>C	ENSP00000362179:p.Asp426His			Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D426H	ENST00000373087.6	37	c.1276	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891974	0.33442	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.21543	2.0	5.52	3.58	0.41010	.	0.345039	0.31177	N	0.008104	T	0.40423	0.1116	M	0.66939	2.045	0.09310	N	1	D;P	0.89917	1.0;0.621	D;B	0.79108	0.992;0.117	T	0.09997	-1.0649	10	0.49607	T	0.09	-33.8618	9.9758	0.41783	0.0735:0.1365:0.79:0.0	.	221;426	B3KSD3;Q5D1E8	.;ZC12A_HUMAN	H	426	ENSP00000362179:D426H	ENSP00000362174:D426H	D	+	1	0	ZC3H12A	37721275	1.000000	0.71417	0.058000	0.19502	0.361000	0.29550	4.961000	0.63681	1.318000	0.45170	0.561000	0.74099	GAC	ZC3H12A	-	NULL	ENSG00000163874		0.642	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	-	0	180	0	G	NM_025079		37948688	1	tier1	-	no_errors	ENST00000373087	ensembl	human	known	74_37	missense	6.94	134	10	SNP	0.010	C	C	37948688	G	C	37948688	3	2	71	1	0	0	0	0	1	0	0	0	17609	1174	41	5	1294	5	ZC3H12A	1	37948688	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	1919755	37948688	211301933	4	19135											
RIMKLA	284716	genome.wustl.edu	37	chr1	42865151	42865151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccacaccctcagtgcaGtcagacagtgacatcactgt	11	8	8	14	0	3	2	3	1	0	1	3	2	3	2	2	0	2	2	2	0	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:42865151G>A	ENST00000431473.3	+	2	369	c.240G>A	c.(238-240)caG>caA	p.Q80Q		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	80					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTCAGTGCAGTCAGACAGTG	0.537																																																	0													60	50	54					1																	42865151		2203	4300	6503	SO:0001819	synonymous_variant	0			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.240G>A	1.37:g.42865151G>A			Q5VUS5	Silent	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.Q80	ENST00000431473.3	37	c.240	CCDS466.2	1																																																																																			RIMKLA	-	tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000177181		0.537	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLA	HGNC	protein_coding	OTTHUMT00000019174.3	-	0	45	0	G	NM_173642		42865151	1	tier1	-	no_errors	ENST00000431473	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	A	A	42865151	G	A	42865151	2	1	71	1	0	0	0	0	0	0	0	1	13410	1020	36	3		3	RIMKLA	1	42865151	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	4916463	42865151	206385470	5	19136											
OSBPL9	114883	genome.wustl.edu	37	chr1	52253063	52253063	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacttaaaaatcagagAcattgatgcagcaactgaag	17	10	7	7	0	2	3	2	2	0	1	2	4	2	3	0	0	4	2	0	0	6	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:52253063A>C	ENST00000428468.1	+	23	2041	c.2039A>C	c.(2038-2040)gAc>gCc	p.D680A	OSBPL9_ENST00000462759.1_Missense_Mutation_p.D502A|OSBPL9_ENST00000371714.1_Missense_Mutation_p.D667A|OSBPL9_ENST00000531828.1_Missense_Mutation_p.D515A|OSBPL9_ENST00000530544.1_Missense_Mutation_p.D599A|OSBPL9_ENST00000337809.4_Missense_Mutation_p.D685A|OSBPL9_ENST00000453295.1_Missense_Mutation_p.D663A|OSBPL9_ENST00000486942.1_Missense_Mutation_p.D502A|NRD1_ENST00000485608.1_5'Flank|OSBPL9_ENST00000447887.1_Missense_Mutation_p.D690A|OSBPL9_ENST00000435686.2_Missense_Mutation_p.D515A|OSBPL9_ENST00000371710.3_Missense_Mutation_p.D698A|OSBPL9_ENST00000361556.5_Missense_Mutation_p.D570A			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	680					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AAAATCAGAGACATTGATGCA	0.443																																																	0													119	116	117					1																	52253063		2203	4300	6503	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.2039A>C	1.37:g.52253063A>C	ENSP00000407168:p.Asp680Ala		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D698A	ENST00000428468.1	37	c.2093	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.625249	0.87560	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	H	0.94964	3.605	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.986;0.998;0.989;0.992	D;D;D;D;D	0.81914	0.995;0.917;0.988;0.95;0.912	T	0.79945	-0.1589	10	0.87932	D	0	-13.3404	15.545	0.76090	1.0:0.0:0.0:0.0	.	663;570;696;680;685	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	A	667;698;685;690;515;680;663;599;515;570;502;502	ENSP00000360779:D667A;ENSP00000360775:D698A;ENSP00000337265:D685A;ENSP00000412733:D690A;ENSP00000402646:D515A;ENSP00000407168:D680A;ENSP00000413263:D663A;ENSP00000433675:D599A;ENSP00000433083:D515A;ENSP00000354970:D570A;ENSP00000433279:D502A;ENSP00000431980:D502A	ENSP00000337265:D685A	D	+	2	0	OSBPL9	52025651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.518000	0.90559	2.266000	0.75297	0.529000	0.55759	GAC	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.443	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	-	0	57	0	A			52253063	1	tier1	-	no_errors	ENST00000371710	ensembl	human	known	74_37	missense	24.00	38	12	SNP	1.000	C	C	52253063	A	C	52253063	3	2	71	1	0	0	0	0	1	0	0	0	11323	275	10	4	2233	4	OSBPL9	1	52253063	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	9387912	52253063	196997558	6	19137											
CC2D1B	200014	genome.wustl.edu	37	chr1	52820354	52820354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgtgccaaccagcttgtCgcttctgaagaaggacctgg	8	10	12	11	1	1	2	0	1	1	1	2	3	1	3	3	2	4	3	3	2	3	2	rs368215179		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:52820354C>T	ENST00000371586.2	-	23	2512	c.2374G>A	c.(2374-2376)Gac>Aac	p.D792N	CC2D1B_ENST00000284376.3_Missense_Mutation_p.D786N|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000438831.1_Missense_Mutation_p.D167N|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	792	C2.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						ACCAGCTTGTCGCTTCTGAAG	0.587																																																	0								C	ASN/ASP	0,4406		0,0,2203	119	109	112		2374	5.7	1	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense	CC2D1B	NM_032449.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	792/859	52820354	1,13005	2203	4300	6503	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2374G>A	1.37:g.52820354C>T	ENSP00000360642:p.Asp792Asn		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.D792N	ENST00000371586.2	37	c.2374	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.792506	0.96945	0.0	1.16E-4	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	T;T;T	0.50548	0.74;0.74;0.74	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77021	-0.2742	10	0.62326	D	0.03	-25.7781	19.9142	0.97043	0.0:1.0:0.0:0.0	.	572;786;792	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	N	792;786;700;167	ENSP00000360642:D792N;ENSP00000284376:D786N;ENSP00000406300:D167N	ENSP00000284376:D786N	D	-	1	0	CC2D1B	52592942	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.056000	0.76662	2.941000	0.99782	0.655000	0.94253	GAC	CC2D1B	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000154222		0.587	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1		0	67	0	C	NM_032449		52820354	-1			no_errors	ENST00000371586	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	52820354	C	T	52820354	3	4	71	1	0	0	0	0	1	0	0	0	2734	884	31	1	210	1	CC2D1B	1	52820354	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	567291	52820354	196430267	7	19138											
PTGER3	5733	genome.wustl.edu	37	chr1	71477991	71477991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacagcatttgctacctgGcaaaactttcgaagaaggat	14	9	10	8	1	0	2	0	0	0	2	1	5	0	3	1	2	4	3	1	2	5	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:71477991G>A	ENST00000306666.5	-	2	1284	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	PTGER3_ENST00000460330.1_Silent_p.C358C|PTGER3_ENST00000354608.5_Silent_p.C358C|PTGER3_ENST00000370932.2_Silent_p.C358C|PTGER3_ENST00000370924.4_Silent_p.C358C|PTGER3_ENST00000370931.3_Silent_p.C358C|PTGER3_ENST00000351052.5_Silent_p.C358C|PTGER3_ENST00000356595.4_Silent_p.C358C|PTGER3_ENST00000414819.1_Silent_p.C358C	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	358					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TTGCTACCTGGCAAAACTTTC	0.418																																																	0													99	97	97					1																	71477991		2203	4300	6503	SO:0001819	synonymous_variant	0			X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"GPCR / Class A : Prostanoid receptors"	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.1074C>T	1.37:g.71477991G>A			B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt	p.C358	ENST00000306666.5	37	c.1074	CCDS657.1	1																																																																																			PTGER3	-	NULL	ENSG00000050628		0.418	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTGER3	HGNC	protein_coding	OTTHUMT00000026076.1	-	0	57	0	G	NM_000957		71477991	-1	tier1	-	no_errors	ENST00000354608	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	A	A	71477991	G	A	71477991	2	1	71	1	0	0	0	0	0	0	0	1	12787	1195	42	3		3	PTGER3	1	71477991	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	18657637	71477991	177772630	8	19139											
RABGGTB	5876	genome.wustl.edu	37	chr1	76257240	76257240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgcagaccaggttctgAatcccatgctgggcaggtaa	9	10	13	9	0	1	2	0	1	1	1	2	2	2	2	2	4	2	6	2	4	2	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:76257240A>G	ENST00000319942.3	+	6	634	c.563A>G	c.(562-564)gAa>gGa	p.E188G	RABGGTB_ENST00000535300.1_Missense_Mutation_p.E14G|RABGGTB_ENST00000496055.1_3'UTR|SNORD45B_ENST00000364617.1_RNA	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	188					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CCAGGTTCTGAATCCCATGCT	0.368																																																	0													138	133	135					1																	76257240		2203	4300	6503	SO:0001583	missense	0			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.563A>G	1.37:g.76257240A>G	ENSP00000317473:p.Glu188Gly		Q92697	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.E188G	ENST00000319942.3	37	c.563	CCDS669.1	1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889250	0.91889	.	.	ENSG00000137955	ENST00000535300;ENST00000319942;ENST00000370824	T;T	0.55588	0.51;0.51	5.2	5.2	0.72013	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89155	0.3526	10	0.87932	D	0	-0.052	15.0811	0.72117	1.0:0.0:0.0:0.0	.	188;188	Q59GT6;P53611	.;PGTB2_HUMAN	G	14;188;188	ENSP00000440452:E14G;ENSP00000317473:E188G	ENSP00000317473:E188G	E	+	2	0	RABGGTB	76029828	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.930000	0.92872	1.961000	0.56991	0.459000	0.35465	GAA	RABGGTB	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000137955		0.368	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	HGNC	protein_coding	OTTHUMT00000026972.1	-	0	52	0	A	NM_004582		76257240	1	tier1	-	no_errors	ENST00000319942	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	G	G	76257240	A	G	76257240	3	3	71	1	0	0	0	0	1	0	0	0	13013	246	9	4	585	4	RABGGTB	1	76257240	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	4779249	76257240	172993381	9	19140											
PRPF38B	55119	genome.wustl.edu	37	chr1	109235463	109235463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgagctcaagacctaccacGaggtggtggacgagatctac	12	6	12	11	3	2	2	1	0	1	2	2	6	2	3	2	3	3	1	2	3	3	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:109235463G>A	ENST00000370025.4	+	1	519	c.250G>A	c.(250-252)Gag>Aag	p.E84K	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.E84K|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	84					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GACCTACCACGAGGTGGTGGA	0.542																																																	0													103	80	88					1																	109235463		2203	4300	6503	SO:0001583	missense	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.250G>A	1.37:g.109235463G>A	ENSP00000359042:p.Glu84Lys		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	pfam_PRP38	p.E84K	ENST00000370025.4	37	c.250	CCDS788.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.243510	0.95272	.	.	ENSG00000134186	ENST00000370025;ENST00000370022	.	.	.	5.42	3.46	0.39613	.	0.000000	0.85682	D	0.000000	T	0.71451	0.3341	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.75878	-0.3162	9	0.66056	D	0.02	.	11.0885	0.48102	0.071:0.1277:0.8013:0.0	.	84	Q5VTL8	PR38B_HUMAN	K	84	.	ENSP00000359039:E84K	E	+	1	0	PRPF38B	109036986	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.817000	0.86213	1.226000	0.43582	0.462000	0.41574	GAG	PRPF38B	-	pfam_PRP38	ENSG00000134186		0.542	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1		0	45	0	G	NM_018061		109235463	1			no_errors	ENST00000370025	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	109235463	G	A	109235463	3	1	71	1	0	0	0	0	1	0	0	0	12610	1059	37	1	252	1	PRPF38B	1	109235463	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	32978223	109235463	140015158	10	19141											
WDR47	22911	genome.wustl.edu	37	chr1	109566072	109566072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagcttctttgaattcagGaagtccaaaattagcttaat	14	14	7	6	0	2	2	1	2	1	0	3	3	3	3	1	1	2	2	1	1	7	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:109566072G>T	ENST00000369962.3	-	2	285	c.63C>A	c.(61-63)ttC>ttA	p.F21L	WDR47_ENST00000400794.3_Missense_Mutation_p.F21L|WDR47_ENST00000369965.4_Missense_Mutation_p.F21L|WDR47_ENST00000361054.3_Missense_Mutation_p.F21L|WDR47_ENST00000357672.3_Missense_Mutation_p.F21L			O94967	WDR47_HUMAN	WD repeat domain 47	21	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TTGAATTCAGGAAGTCCAAAA	0.368																																																	0													153	155	155					1																	109566072		2203	4296	6499	SO:0001583	missense	0			AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"WD repeat domain containing"	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.63C>A	1.37:g.109566072G>T	ENSP00000358979:p.Phe21Leu		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F21L	ENST00000369962.3	37	c.63	CCDS44187.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634734	0.67130	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000528747	T;T;T;T;T	0.68025	-0.3;-0.25;-0.23;-0.3;-0.23	5.21	2.98	0.34508	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.73598	2.24	0.52099	D	0.999949	D;D;D	0.63880	0.993;0.993;0.974	D;D;D	0.68192	0.956;0.956;0.953	T	0.76924	-0.2779	10	0.87932	D	0	-0.0177	11.2777	0.49176	0.2287:0.0:0.7713:0.0	.	21;21;21	A8MX09;O94967;O94967-3	.;WDR47_HUMAN;.	L	21	ENSP00000383599:F21L;ENSP00000358979:F21L;ENSP00000354339:F21L;ENSP00000358982:F21L;ENSP00000350301:F21L	ENSP00000350301:F21L	F	-	3	2	WDR47	109367595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.950000	0.29122	1.200000	0.43188	0.585000	0.79938	TTC	WDR47	-	smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000085433		0.368	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR47	HGNC	protein_coding	OTTHUMT00000032414.2	-	0	51	0	G	NM_014969		109566072	-1	tier1	-	no_errors	ENST00000400794	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.998	T	T	109566072	G	T	109566072	3	4	71	1	0	0	0	0	1	0	0	0	17349	1165	41	3	2776	3	WDR47	1	109566072	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	330609	109566072	139684549	11	19142											
CELSR2	1952	genome.wustl.edu	37	chr1	109793851	109793851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcggagtaccacagccGctgttttcctttctgtggag	5	13	11	12	2	1	0	0	0	1	0	4	2	3	2	4	2	2	3	4	2	1	4	rs149311467	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:109793851G>A	ENST00000271332.3	+	1	1211	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	384	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TACCACAGCCGCTGTTTTCCT	0.592																																					NSCLC(158;1285 2011 34800 34852 42084)												0													57	64	62					1																	109793851		2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1150G>A	1.37:g.109793851G>A	ENSP00000271332:p.Ala384Thr		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.A384T	ENST00000271332.3	37	c.1150	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	0.918	-0.716878	0.03206	.	.	ENSG00000143126	ENST00000271332	T	0.01767	4.65	4.99	1.96	0.26148	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00109	0.0003	N	0.00054	-2.38	0.09310	N	1	B	0.16166	0.016	B	0.10450	0.005	T	0.21895	-1.0232	9	0.10636	T	0.68	.	2.8443	0.05538	0.2671:0.0:0.3815:0.3514	.	384	Q9HCU4	CELR2_HUMAN	T	384	ENSP00000271332:A384T	ENSP00000271332:A384T	A	+	1	0	CELSR2	109595374	0.523000	0.26274	0.005000	0.12908	0.920000	0.55202	3.115000	0.50391	0.255000	0.21593	0.555000	0.69702	GCT	CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000143126		0.592	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1		0	78	0	G	NM_001408		109793851	1			no_errors	ENST00000271332	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.097	A	A	109793851	G	A	109793851	3	1	71	1	0	0	0	0	1	0	0	0	3229	1087	38	1	1152	1	CELSR2	1	109793851	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	227779	109793851	139456770	12	19143											
NOTCH2	4853	genome.wustl.edu	37	chr1	120512304	120512304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgcggttggcacaggtgCccccattttgacaggcattg	7	11	12	11	1	0	1	0	1	0	0	0	1	0	1	2	4	2	3	2	4	0	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:120512304C>T	ENST00000256646.2	-	6	1157	c.938G>A	c.(937-939)gGc>gAc	p.G313D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	313	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACAGGTGCCCCCATTTTG	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													142	109	121					1																	120512304		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.938G>A	1.37:g.120512304C>T	ENSP00000256646:p.Gly313Asp		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.G313D	ENST00000256646.2	37	c.938	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.370072	0.95900	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.82167	-1.58	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38548	U	0.001642	D	0.92590	0.7646	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.985;0.994;1.0	D	0.93029	0.6447	10	0.59425	D	0.04	.	18.8873	0.92383	0.0:1.0:0.0:0.0	.	274;313;313	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	D	313;274	ENSP00000256646:G313D	ENSP00000256646:G313D	G	-	2	0	NOTCH2	120313827	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.708000	0.92522	0.655000	0.94253	GGC	NOTCH2	-	pirsf_Notch,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134250		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0	79	0	C	NM_024408		120512304	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	T	T	120512304	C	T	120512304	3	4	71	1	0	0	0	0	1	0	0	0	10587	739	26	3	6593	3	NOTCH2	1	120512304	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	10718453	120512304	128738317	13	19144											
MPZL1	9019	genome.wustl.edu	37	chr1	167741701	167741701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgtccagcctggacacAttaggctctatgtcgtagaa	9	12	10	10	2	1	1	0	0	1	1	4	2	2	2	2	2	1	3	2	2	4	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:167741701A>T	ENST00000359523.2	+	3	650	c.448A>T	c.(448-450)Att>Ttt	p.I150F	MPZL1_ENST00000392121.3_Intron|MPZL1_ENST00000474859.1_Missense_Mutation_p.I150F	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	150					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCCTGGACACATTAGGCTCTA	0.388																																																	0													105	93	97					1																	167741701		2203	4300	6503	SO:0001583	missense	0			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"Immunoglobulin superfamily / V-set domain containing"	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.448A>T	1.37:g.167741701A>T	ENSP00000352513:p.Ile150Phe		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0	p.I150F	ENST00000359523.2	37	c.448	CCDS1264.1	1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248300	0.80024	.	.	ENSG00000197965	ENST00000359523;ENST00000474859;ENST00000367853	D;D;D	0.94793	-3.52;-3.52;-3.52	4.81	4.81	0.61882	Immunoglobulin V-set (1);	0.050734	0.85682	D	0.000000	D	0.96188	0.8757	M	0.72894	2.215	0.38279	D	0.942369	D;D	0.76494	0.999;0.999	D;D	0.77557	0.982;0.99	D	0.96547	0.9405	9	0.59425	D	0.04	.	15.0743	0.72066	1.0:0.0:0.0:0.0	.	150;150	O95297-3;O95297	.;MPZL1_HUMAN	F	150;150;124	ENSP00000352513:I150F;ENSP00000420455:I150F;ENSP00000356827:I124F	ENSP00000352513:I150F	I	+	1	0	MPZL1	166008325	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	3.790000	0.55461	2.116000	0.64780	0.455000	0.32223	ATT	MPZL1	-	pfam_Ig_V-set,smart_Ig_sub,prints_Myelin_P0	ENSG00000197965		0.388	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	-	0	48	0	A	NM_024569		167741701	1	tier1	-	no_errors	ENST00000359523	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.996	T	T	167741701	A	T	167741701	3	4	71	1	0	0	0	0	1	0	0	0	9787	217	8	5	458	5	MPZL1	1	167741701	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	47229397	167741701	81508920	14	19145											
BLZF1	8548	genome.wustl.edu	37	chr1	169349810	169349810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaagatctcctaagtgaaCgggaacagtttcgtcaagaa	15	9	9	8	2	2	3	1	1	1	2	4	4	2	4	1	1	3	1	1	1	7	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:169349810C>T	ENST00000367808.3	+	5	1183	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	BLZF1_ENST00000329281.2_Missense_Mutation_p.R254W			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	254					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CCTAAGTGAACGGGAACAGTT	0.418																																																	0													151	122	132					1																	169349810		2203	4300	6503	SO:0001583	missense	0			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.760C>T	1.37:g.169349810C>T	ENSP00000356782:p.Arg254Trp		O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	pfam_Hsk3_like	p.R254W	ENST00000367808.3	37	c.760	CCDS1278.1	1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527801	0.85706	.	.	ENSG00000117475	ENST00000367808;ENST00000329281	T;T	0.40225	1.04;1.04	5.52	4.6	0.57074	.	0.109437	0.64402	D	0.000012	T	0.52500	0.1738	M	0.65498	2.005	0.47698	D	0.999492	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.62144	-0.6916	9	0.87932	D	0	-1.8163	13.6034	0.62033	0.2812:0.7188:0.0:0.0	.	254;254	A8K6R0;Q9H2G9	.;GO45_HUMAN	W	254	ENSP00000356782:R254W;ENSP00000327541:R254W	ENSP00000327541:R254W	R	+	1	2	BLZF1	167616434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.235000	0.43044	1.295000	0.44724	0.637000	0.83480	CGG	BLZF1	-	NULL	ENSG00000117475		0.418	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLZF1	HGNC	protein_coding	OTTHUMT00000086109.1	-	0	91	0	C	NM_003666		169349810	1	tier1	-	no_errors	ENST00000329281	ensembl	human	known	74_37	missense	8.86	72	7	SNP	1.000	T	T	169349810	C	T	169349810	3	4	71	1	0	0	0	0	1	0	0	0	1455	527	19	1	774	1	BLZF1	1	169349810	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	1608109	169349810	79900811	15	19146											
PAPPA2	60676	genome.wustl.edu	37	chr1	176679139	176679139	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccaagcctttgctacAtgtatgagggagatggcata	12	9	13	7	0	0	3	0	1	0	2	0	5	0	3	2	2	4	3	2	2	4	4	rs372969954		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:176679139A>G	ENST00000367662.3	+	11	4642	c.3478A>G	c.(3478-3480)Atg>Gtg	p.M1160V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1160					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTTTGCTACATGTATGAGGG	0.408																																																	0								A	VAL/MET	0,3788		0,0,1894	119	111	113		3478	-4.1	0	1		113	1,8241		0,1,4120	no	missense	PAPPA2	NM_020318.2	21	0,1,6014	GG,GA,AA		0.0121,0.0,0.0083	benign	1160/1792	176679139	1,12029	1894	4121	6015	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3478A>G	1.37:g.176679139A>G	ENSP00000356634:p.Met1160Val		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.M1160V	ENST00000367662.3	37	c.3478	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.810929	0.00600	0.0	1.21E-4	ENSG00000116183	ENST00000367662	T	0.39406	1.08	5.76	-4.05	0.03998	.	0.490362	0.23720	N	0.045224	T	0.08268	0.0206	N	0.00841	-1.15	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	10	0.05525	T	0.97	0.0301	4.1855	0.10395	0.2547:0.2165:0.4233:0.1055	.	1160	Q9BXP8	PAPP2_HUMAN	V	1160	ENSP00000356634:M1160V	ENSP00000356634:M1160V	M	+	1	0	PAPPA2	174945762	0.972000	0.33761	0.003000	0.11579	0.236000	0.25371	0.471000	0.22100	-1.126000	0.02929	-1.148000	0.01847	ATG	PAPPA2	-	NULL	ENSG00000116183		0.408	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	48	0	A			176679139	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.006	G	G	176679139	A	G	176679139	3	3	71	1	0	0	0	0	1	0	0	0	11472	217	8	4	3569	4	PAPPA2	1	176679139	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	7329329	176679139	72571482	16	19147											
ASPM	259266	genome.wustl.edu	37	chr1	197097636	197097636	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacaaggcgcactccacAttgcaagtctacggcaagat	13	7	9	12	2	1	1	0	0	1	1	2	1	2	1	1	2	3	4	1	2	5	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:197097636A>C	ENST00000367409.4	-	10	3176	c.2920T>G	c.(2920-2922)Tgt>Ggt	p.C974G	ASPM_ENST00000367408.1_Missense_Mutation_p.C224G|ASPM_ENST00000294732.7_Missense_Mutation_p.C974G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	974	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CGCACTCCACATTGCAAGTCT	0.353																																																	0													117	113	115					1																	197097636		2203	4300	6503	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2920T>G	1.37:g.197097636A>C	ENSP00000356379:p.Cys974Gly		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.C974G	ENST00000367409.4	37	c.2920	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421217	0.83559	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.59083	0.29;0.29;0.29	5.77	5.77	0.91146	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	T	0.71937	0.3399	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.69621	-0.5096	10	0.02654	T	1	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	974;974	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	G	974;974;224	ENSP00000356379:C974G;ENSP00000294732:C974G;ENSP00000356378:C224G	ENSP00000294732:C974G	C	-	1	0	ASPM	195364259	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	8.807000	0.91935	2.326000	0.78906	0.533000	0.62120	TGT	ASPM	-	superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000066279		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	0	112	0	A	NM_018136		197097636	-1	tier1	-	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	7.86	129	11	SNP	1.000	C	C	197097636	A	C	197097636	3	2	71	1	0	0	0	0	1	0	0	0	1057	217	8	4	7589	4	ASPM	1	197097636	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	20418497	197097636	52152985	17	19148											
PLXNA2	5362	genome.wustl.edu	37	chr1	208227883	208227883	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcccatctcacagacaatCctggggagaaagcaaacctt	13	7	9	12	0	1	2	1	0	1	2	3	3	2	2	3	3	2	1	3	3	3	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:208227883C>A	ENST00000367033.3	-	14	3496	c.2739G>T	c.(2737-2739)caG>caT	p.Q913H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	913	IPT/TIG 1.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACAGACAATCCTGGGGAGAA	0.562																																																	0													60	52	55					1																	208227883		2203	4300	6503	SO:0001630	splice_region_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.2739-1G>T	1.37:g.208227883C>A			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.Q913H	ENST00000367033.3	37	c.2739	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181605	0.78677	.	.	ENSG00000076356	ENST00000367033	T	0.77620	-1.11	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.052149	0.85682	D	0.000000	D	0.86543	0.5958	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.87777	0.2609	10	0.72032	D	0.01	.	12.4809	0.55842	0.0:0.9239:0.0:0.0761	.	913	O75051	PLXA2_HUMAN	H	913	ENSP00000356000:Q913H	ENSP00000356000:Q913H	Q	-	3	2	PLXNA2	206294506	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.470000	0.53100	2.514000	0.84764	0.655000	0.94253	CAG	PLXNA2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000076356		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	77	0	C	NM_025179	Missense_Mutation	208227883	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	A	A	208227883	C	A	208227883	5	1	71	1	0	0	0	0	0	0	1	0	12159	869	30	3	3021	3	PLXNA2	1	208227883	Splice_Site	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	11130247	208227883	41022738	18	19149											
LIN9	286826	genome.wustl.edu	37	chr1	226475417	226475417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaccatttatgtgctttagGaagcttgagcagattacgta	12	13	9	7	1	0	2	0	1	0	1	0	3	0	3	1	1	4	4	1	1	5	7			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:226475417G>A	ENST00000328205.5	-	5	939	c.394C>T	c.(394-396)Cct>Tct	p.P132S	LIN9_ENST00000481685.1_Missense_Mutation_p.P97S|LIN9_ENST00000366801.1_Missense_Mutation_p.P81S	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	116	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGTGCTTTAGGAAGCTTGAGC	0.294																																					Ovarian(197;1696 2974 11248 14117)												0													122	129	127					1																	226475417		2202	4299	6501	SO:0001583	missense	0			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"TUDOR gene similar", "rb related pathway actor"	609375	"lin-9 homolog (C. elegans)"			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.394C>T	1.37:g.226475417G>A	ENSP00000329102:p.Pro132Ser		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_LIN-9/ALY1	p.P132S	ENST00000328205.5	37	c.394	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.995520	0.93167	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807;ENST00000359525	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.68317	2.08	0.80722	D	1	P;D;P	0.65815	0.911;0.995;0.888	P;P;B	0.62560	0.609;0.904;0.435	T	0.76708	-0.2860	9	0.48119	T	0.1	.	19.1812	0.93623	0.0:0.0:1.0:0.0	.	97;116;266	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	S	92;132;187;81;97;266;64	.	ENSP00000329102:P132S	P	-	1	0	LIN9	224542040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.444000	0.97578	2.533000	0.85409	0.561000	0.74099	CCT	LIN9	-	NULL	ENSG00000183814		0.294	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	-	0	90	0	G	NM_173083		226475417	-1	tier1	-	no_errors	ENST00000328205	ensembl	human	known	74_37	missense	25.33	56	19	SNP	1.000	A	A	226475417	G	A	226475417	3	1	71	1	0	0	0	0	1	0	0	0	8843	1174	41	3	1326	3	LIN9	1	226475417	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	18247534	226475417	22775204	19	19150											
RYR2	6262	genome.wustl.edu	37	chr1	237664074	237664074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaactgatgatgtcatcaGttgctgtttagatctgagtg	11	14	11	5	0	3	5	2	3	1	2	3	5	3	5	0	0	2	3	0	0	3	3	rs193922623		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:237664074G>T	ENST00000366574.2	+	21	2584	c.2267G>T	c.(2266-2268)aGt>aTt	p.S756I	RYR2_ENST00000360064.6_Missense_Mutation_p.S754I|RYR2_ENST00000542537.1_Missense_Mutation_p.S740I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	756	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGTCATCAGTTGCTGTTTA	0.408																																																	0													302	285	290					1																	237664074		1924	4135	6059	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2267G>T	1.37:g.237664074G>T	ENSP00000355533:p.Ser756Ile		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S754I	ENST00000366574.2	37	c.2261	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.114441	0.94339	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69561	-0.41;-0.41;-0.41	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86723	0.1943	10	0.72032	D	0.01	.	20.0007	0.97408	0.0:0.0:1.0:0.0	.	756	Q92736	RYR2_HUMAN	I	756;754;740	ENSP00000355533:S756I;ENSP00000353174:S754I;ENSP00000443798:S740I	ENSP00000353174:S754I	S	+	2	0	RYR2	235730697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.805000	0.99149	2.726000	0.93360	0.650000	0.86243	AGT	RYR2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198626		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	69	0	G	NM_001035		237664074	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	237664074	G	T	237664074	3	4	71	1	0	0	0	0	1	0	0	0	13814	1029	36	3	2349	3	RYR2	1	237664074	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	11188657	237664074	11586547	20	19151											
OR2T3	343173	genome.wustl.edu	37	chr1	248636827	248636827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccactcagagccccGcctccacacccccatgtact	8	7	4	22	1	2	1	2	0	0	1	4	1	4	1	8	0	2	1	8	0	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr1:248636827G>A	ENST00000359594.2	+	1	201	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGAGCCCCGCCTCCACACC	0.567																																																	0													12	9	10					1																	248636827		2119	3960	6079	SO:0001583	missense	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.176G>A	1.37:g.248636827G>A	ENSP00000352604:p.Arg59His		B2RNJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R59H	ENST00000359594.2	37	c.176	CCDS31117.1	1	.	.	.	.	.	.	.	.	.	.	g	4.714	0.132804	0.09032	.	.	ENSG00000196539	ENST00000359594	T	0.00476	7.15	2.65	-0.709	0.11237	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.13003	0.285	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26780	-1.0093	9	0.07990	T	0.79	.	3.9228	0.09251	0.4998:0.194:0.3062:0.0	.	59	Q8NH03	OR2T3_HUMAN	H	59	ENSP00000352604:R59H	ENSP00000352604:R59H	R	+	2	0	OR2T3	246703450	.	.	0.007000	0.13788	0.410000	0.31052	.	.	-0.146000	0.11274	0.186000	0.17326	CGC	OR2T3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196539		0.567	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1	-	0	44	0	G	NM_001005495		248636827	1	tier1	-	no_errors	ENST00000359594	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.000	A	A	248636827	G	A	248636827	3	1	71	1	0	0	0	0	1	0	0	0	11062	1087	38	1	178	1	OR2T3	1	248636827	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	10972753	248636827	613794	21	19152											
DHX57	90957	genome.wustl.edu	37	chr2	39042707	39042707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatctcctccttgggcccTtttctcaatttcccttgctc	4	16	4	17	0	2	0	1	0	2	0	7	0	4	0	5	1	1	1	5	1	1	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:39042707T>C	ENST00000295373.6	-	20	3688	c.3562A>G	c.(3562-3564)Agg>Ggg	p.R1188G		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1188							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTTGGGCCCTTTTCTCAATT	0.443																																					Melanoma(191;1090 2095 4375 23729 47341)												0													232	217	222					2																	39042707		2203	4300	6503	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3562A>G	2.37:g.39042707T>C	ENSP00000295373:p.Arg1188Gly		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1188G	ENST00000295373.6	37	c.3562	CCDS1800.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.75|12.75	2.030132|2.030132	0.35797|0.35797	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000452978|ENST00000295373	T|T	0.04234|0.02890	3.67|4.12	5.29|5.29	2.81|2.81	0.32909|0.32909	.|Domain of unknown function DUF1605 (1);	.|0.100904	.|0.43579	.|D	.|0.000546	T|T	0.02047|0.02047	0.0064|0.0064	N|N	0.04746|0.04746	-0.17|-0.17	0.34569|0.34569	D|D	0.713265|0.713265	.|P;B	.|0.39424	.|0.673;0.001	.|B;B	.|0.39027	.|0.288;0.014	T|T	0.54476|0.54476	-0.8288|-0.8288	7|10	0.06365|0.54805	T|T	0.9|0.06	.|.	12.8743|12.8743	0.57982|0.57982	0.0:0.0:0.3873:0.6127|0.0:0.0:0.3873:0.6127	.|.	.|1188;580	.|Q6P158;Q59G60	.|DHX57_HUMAN;.	R|G	511|1188	ENSP00000397841:K511R|ENSP00000295373:R1188G	ENSP00000397841:K511R|ENSP00000295373:R1188G	K|R	-|-	2|1	0|2	DHX57|DHX57	38896211|38896211	1.000000|1.000000	0.71417|0.71417	0.675000|0.675000	0.29917|0.29917	0.911000|0.911000	0.54048|0.54048	1.478000|1.478000	0.35442|0.35442	0.362000|0.362000	0.24319|0.24319	-0.460000|-0.460000	0.05396|0.05396	AAG|AGG	DHX57	-	pfam_DUF1605	ENSG00000163214		0.443	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2		0	95	0	T	NM_145646		39042707	-1			no_errors	ENST00000295373	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.688	C	C	39042707	T	C	39042707	3	2	71	1	0	0	0	0	1	0	0	0	4527	1608	56	4	618	4	DHX57	2	39042707	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09		39042707	204156666	22	19153											
SMEK2	57223	genome.wustl.edu	37	chr2	55825825	55825825	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacatccatgatacactcAtcagaaaacattacctcaaa	18	8	3	12	1	3	2	3	1	0	1	4	3	4	2	2	0	3	0	2	0	5	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:55825825A>T	ENST00000345102.5	-	4	949	c.648T>A	c.(646-648)gaT>gaA	p.D216E	SMEK2_ENST00000272313.5_Missense_Mutation_p.D216E|SMEK2_ENST00000407823.3_Missense_Mutation_p.D216E	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	216					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGATACACTCATCAGAAAACA	0.378																																																	0													89	88	88					2																	55825825		2203	4300	6503	SO:0001583	missense	0			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.648T>A	2.37:g.55825825A>T	ENSP00000339769:p.Asp216Glu		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.D216E	ENST00000345102.5	37	c.648	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439361	0.43326	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.55052	0.54;0.54;0.54	5.59	4.32	0.51571	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	L	0.28054	0.825	0.58432	D	0.999997	B;B;B;B	0.27316	0.014;0.082;0.014;0.175	B;B;B;B	0.37304	0.016;0.209;0.036;0.246	T	0.23048	-1.0199	10	0.27785	T	0.31	-15.7032	9.2722	0.37679	0.8286:0.0:0.1714:0.0	.	216;216;216;216	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	E	216	ENSP00000272313:D216E;ENSP00000385912:D216E;ENSP00000339769:D216E	ENSP00000272313:D216E	D	-	3	2	SMEK2	55679329	0.842000	0.29525	1.000000	0.80357	0.999000	0.98932	0.024000	0.13555	0.978000	0.38470	0.533000	0.62120	GAT	SMEK2	-	pfam_DUF625,superfamily_ARM-type_fold	ENSG00000138041		0.378	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1		0	75	0	A	NM_020463		55825825	-1			no_errors	ENST00000272313	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	55825825	A	T	55825825	3	4	71	1	0	0	0	0	1	0	0	0	14839	214	8	5	1957	5	SMEK2	2	55825825	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	16783118	55825825	187373548	23	19154											
REG3A	5068	genome.wustl.edu	37	chr2	79385795	79385795	+	Frame_Shift_Del	DEL	T	T	-																															acatctgcatctgtccaggaTtttggtgacaaaaacaaggc																										TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:79385795delT	ENST00000409839.3	-	3	213	c.177delA	c.(175-177)aaafs	p.K59fs	REG3A_ENST00000393878.1_Frame_Shift_Del_p.K59fs|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Frame_Shift_Del_p.K59fs	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	59	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CTGTCCAGGATTTTGGTGACA	0.552																																																	0													126	115	119					2																	79385795		2203	4300	6503	SO:0001589	frameshift_variant	0			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"pancreatitis-associated protein"	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.177delA	2.37:g.79385795delT	ENSP00000386630:p.Lys59fs			Frame_Shift_Del	DEL	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K59fs	ENST00000409839.3	37	c.177	CCDS1965.1	2																																																																																			REG3A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000172016		0.552	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2		0	36	0	T	NM_002580		79385795	-1	tier1		no_errors	ENST00000305165	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.021	-	-	79385795	T	-	79385795	7	5	71	1	0	1	0	1	0	0	0	0	13257	1490	52	0	366	0	REG3A	2	79385795	Frame_Shift_Del	DEL	T	TCGA-L5-A88S-01A-11D-A36J-09	23559970	79385795	163813578	24	19155											
IL1RL2	8808	genome.wustl.edu	37	chr2	102835498	102835498	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaataacactttggtGgatgattactatgatgaatc	14	13	9	5	0	1	4	1	3	0	1	2	5	1	5	0	2	2	0	0	2	5	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:102835498G>T	ENST00000264257.2	+	7	936	c.810G>T	c.(808-810)gtG>gtT	p.V270V	IL1RL2_ENST00000441515.2_Silent_p.V152V|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.V270V	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	270	Ig-like C2-type 3.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACACTTTGGTGGATGATTACT	0.388																																																	0													188	167	174					2																	102835498		2203	4300	6503	SO:0001819	synonymous_variant	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.810G>T	2.37:g.102835498G>T			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.V270	ENST00000264257.2	37	c.810	CCDS2056.1	2																																																																																			IL1RL2	-	smart_Ig_sub	ENSG00000115598		0.388	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	-	0	70	0	G	NM_003854		102835498	1	tier1	-	no_errors	ENST00000264257	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.694	T	T	102835498	G	T	102835498	2	4	71	1	0	0	0	0	0	0	0	1	7691	1335	47	3		3	IL1RL2	2	102835498	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	23449703	102835498	140363875	25	19156											
RANBP2	5903	genome.wustl.edu	37	chr2	109367786	109367786	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttacagtggaattcatTgcctgctttacctggaatcc	8	14	9	10	0	1	0	1	0	0	0	2	2	2	2	3	3	4	2	3	3	4	5	rs539147212	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:109367786T>C	ENST00000283195.6	+	10	1466	c.1340T>C	c.(1339-1341)tTg>tCg	p.L447S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	447					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGAATTCATTGCCTGCTTTA	0.393													T|||	2	0.000399361	0.0015	0	5008	,	,		17012	0		0	False		,,,				2504	0																0													26	29	28					2																	109367786		1447	2645	4092	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1340T>C	2.37:g.109367786T>C	ENSP00000283195:p.Leu447Ser		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.L447S	ENST00000283195.6	37	c.1340	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118429	0.56505	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.85702	-2.02	5.08	5.08	0.68730	.	.	.	.	.	D	0.82715	0.5097	L	0.50333	1.59	0.09310	N	1	B	0.32245	0.361	B	0.31686	0.134	T	0.77310	-0.2635	9	0.87932	D	0	-4.3156	15.1418	0.72615	0.0:0.0:0.0:1.0	.	447	P49792	RBP2_HUMAN	S	447	ENSP00000283195:L447S	ENSP00000283195:L447S	L	+	2	0	RANBP2	108734218	0.947000	0.32204	0.996000	0.52242	0.965000	0.64279	4.075000	0.57584	2.039000	0.60335	0.528000	0.53228	TTG	RANBP2	-	NULL	ENSG00000153201		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0	455	0	T	NM_006267		109367786	1	tier1	-	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	21.81	336	94	SNP	0.027	C	C	109367786	T	C	109367786	3	2	71	1	0	0	0	0	1	0	0	0	13073	1821	63	4	1378	4	RANBP2	2	109367786	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	6532288	109367786	133831587	26	19157											
IL1B	3553	genome.wustl.edu	37	chr2	113591100	113591100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtagtggtggtcggagattCgtagctggatgccgccatcc	6	11	15	9	3	0	1	0	0	0	1	3	3	1	2	3	4	2	3	3	4	2	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:113591100C>T	ENST00000263341.2	-	4	362	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	51					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)	p.R51Q(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	GTCGGAGATTCGTAGCTGGAT	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)											100	94	96					2																	113591100		2203	4300	6503	SO:0001583	missense	0			M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"Interleukins and interleukin receptors", "Endogenous ligands"	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.152G>A	2.37:g.113591100C>T	ENSP00000263341:p.Arg51Gln		Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36	p.R51Q	ENST00000263341.2	37	c.152	CCDS2102.1	2	.	.	.	.	.	.	.	.	.	.	C	1.023	-0.684356	0.03353	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	4.72	0.872	0.19113	Interleukin-1 propeptide (1);	0.810801	0.11915	N	0.517278	T	0.09774	0.0240	N	0.00395	-1.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35025	-0.9805	10	0.02654	T	1	-0.5004	6.853	0.24024	0.0:0.2849:0.0:0.7151	.	51	P01584	IL1B_HUMAN	Q	51	ENSP00000263341:R51Q;ENSP00000407219:R51Q;ENSP00000409680:R51Q;ENSP00000400854:R51Q	ENSP00000263341:R51Q	R	-	2	0	IL1B	113307571	0.040000	0.19996	0.031000	0.17742	0.013000	0.08279	0.695000	0.25527	0.067000	0.16545	-1.300000	0.01332	CGA	IL1B	-	pfam_IL-1_propep,prints_IL-1_beta	ENSG00000125538		0.627	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1B	HGNC	protein_coding	OTTHUMT00000254125.2		0	31	0	C	NM_000576		113591100	-1			no_errors	ENST00000263341	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.024	T	T	113591100	C	T	113591100	3	4	71	1	0	0	0	0	1	0	0	0	7678	884	31	1	673	1	IL1B	2	113591100	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	4223314	113591100	129608273	27	19158											
DBI	1622	genome.wustl.edu	37	chr2	120125868	120125868	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaacaagcaactgtgggCgacataaatacaggtatgca	17	7	9	8	1	0	0	0	0	0	0	0	1	0	0	0	2	6	3	0	2	8	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:120125868C>A	ENST00000355857.3	+	2	245	c.114C>A	c.(112-114)ggC>ggA	p.G38G	DBI_ENST00000535617.1_Silent_p.G80G|C2orf76_ENST00000409466.2_5'Flank|DBI_ENST00000542275.1_Silent_p.G99G|C2orf76_ENST00000334816.7_5'Flank|DBI_ENST00000393103.2_Silent_p.G39G|DBI_ENST00000311521.4_Silent_p.G55G|DBI_ENST00000409094.1_Silent_p.G55G|C2orf76_ENST00000409523.1_5'Flank|DBI_ENST00000535757.1_Silent_p.G55G|C2orf76_ENST00000409877.1_5'Flank|DBI_ENST00000460901.1_3'UTR|C2orf76_ENST00000498049.1_5'Flank	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	38	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)			kidney(1)|lung(4)|skin(1)	6						CAACTGTGGGCGACATAAATA	0.512																																																	0													118	107	111					2																	120125868		2203	4300	6503	SO:0001819	synonymous_variant	0			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"endozepine"	125950	"diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.114C>A	2.37:g.120125868C>A			B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Silent	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.G99	ENST00000355857.3	37	c.297	CCDS42740.1	2																																																																																			DBI	-	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	ENSG00000155368		0.512	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBI	HGNC	protein_coding	OTTHUMT00000330590.1	-	0	41	0	C	NM_020548		120125868	1	tier1	-	no_errors	ENST00000542275	ensembl	human	known	74_37	silent	24.39	31	10	SNP	0.637	A	A	120125868	C	A	120125868	2	1	71	1	0	0	0	0	0	0	0	1	4260	755	27	2		2	DBI	2	120125868	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	6534768	120125868	123073505	28	19159											
ACVR1C	130399	genome.wustl.edu	37	chr2	158397600	158397600	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggatatttccaaaattttAcctccgactgaacacctccg	13	11	5	12	2	0	1	0	1	0	0	3	3	3	2	5	1	2	0	5	1	6	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:158397600A>G	ENST00000243349.8	-	7	1586		c.e7+1		ACVR1C_ENST00000348328.5_Splice_Site|ACVR1C_ENST00000335450.7_Splice_Site|ACVR1C_ENST00000409680.3_Splice_Site	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CCAAAATTTTACCTCCGACTG	0.373																																																	0													109	111	110					2																	158397600		2203	4300	6503	SO:0001630	splice_region_variant	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1225+1T>C	2.37:g.158397600A>G				Splice_Site	SNP	-	e7+2	ENST00000243349.8	37	c.1225+2	CCDS2205.1	2	.	.	.	.	.	.	.	.	.	.	A	18.69	3.678632	0.68042	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1956	0.73084	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACVR1C	158105846	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	9.287000	0.95975	2.125000	0.65367	0.482000	0.46254	.	ACVR1C	-	-	ENSG00000123612		0.373	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	-	0	144	0	A	NM_145259	Intron	158397600	-1	tier1	-	no_errors	ENST00000243349	ensembl	human	known	74_37	splice_site	16.06	115	22	SNP	1.000	G	G	158397600	A	G	158397600	5	3	71	1	0	0	0	0	0	0	1	0	222	405	14	4	266	4	ACVR1C	2	158397600	Splice_Site	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	38271732	158397600	84801773	29	19160											
COBLL1	22837	genome.wustl.edu	37	chr2	165552272	165552272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaacaccttctacattgaTttctgttttcttcactccat	8	17	4	12	0	4	1	1	1	3	0	5	1	5	1	2	1	2	2	2	1	2	7			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:165552272T>C	ENST00000392717.2	-	13	1862	c.1858A>G	c.(1858-1860)Atc>Gtc	p.I620V	COBLL1_ENST00000194871.6_Missense_Mutation_p.I649V|COBLL1_ENST00000342193.4_Missense_Mutation_p.I582V|COBLL1_ENST00000375458.2_Missense_Mutation_p.I544V|COBLL1_ENST00000409184.3_Missense_Mutation_p.I582V			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	620						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCTACATTGATTTCTGTTTTC	0.323																																																	0													151	139	143					2																	165552272		2203	4300	6503	SO:0001583	missense	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"COBL-like 1"				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.1858A>G	2.37:g.165552272T>C	ENSP00000376478:p.Ile620Val		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.I649V	ENST00000392717.2	37	c.1945		2	.	.	.	.	.	.	.	.	.	.	T	0.420	-0.908902	0.02434	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	6.06	2.38	0.29361	.	0.826902	0.11141	N	0.595303	T	0.29914	0.0748	L	0.38531	1.155	0.09310	N	0.999996	B;B;B	0.28850	0.017;0.017;0.225	B;B;B	0.27262	0.012;0.013;0.078	T	0.22836	-1.0205	9	0.13470	T	0.59	-0.0238	9.3065	0.37878	0.0:0.3324:0.0:0.6676	.	620;649;582	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	V	544;582;582;620;649	.	ENSP00000194871:I649V	I	-	1	0	COBLL1	165260518	0.990000	0.36364	0.212000	0.23672	0.013000	0.08279	1.583000	0.36579	0.174000	0.19809	0.533000	0.62120	ATC	COBLL1	-	NULL	ENSG00000082438		0.323	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		-	0	83	0	T	NM_014900		165552272	-1	tier1	-	no_errors	ENST00000194871	ensembl	human	known	74_37	missense	17.44	71	15	SNP	0.196	C	C	165552272	T	C	165552272	3	2	71	1	0	0	0	0	1	0	0	0	3661	1493	52	4	1768	4	COBLL1	2	165552272	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	7154672	165552272	77647101	30	19161											
ABCA12	26154	genome.wustl.edu	37	chr2	215818665	215818665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagccacaaacattgcaCctagtttattcatctcaaag	15	10	4	12	0	2	0	2	0	1	0	3	0	2	0	3	0	3	2	3	0	5	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:215818665C>T	ENST00000272895.7	-	44	6779	c.6560G>A	c.(6559-6561)gGt>gAt	p.G2187D	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1869D|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2187					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAACATTGCACCTAGTTTATT	0.378																																					Ovarian(66;664 1488 5121 34295)												0													110	101	104					2																	215818665		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6560G>A	2.37:g.215818665C>T	ENSP00000272895:p.Gly2187Asp		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G2187D	ENST00000272895.7	37	c.6560	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344141	0.82022	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.91894	-2.93;-2.9	5.66	5.66	0.87406	.	0.167110	0.42821	D	0.000648	D	0.96473	0.8849	M	0.87097	2.86	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.78314	0.928;0.991	D	0.96707	0.9522	10	0.87932	D	0	.	16.5996	0.84810	0.0:0.8615:0.1385:0.0	.	2187;1869	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	D	2187;1869	ENSP00000272895:G2187D;ENSP00000374312:G1869D	ENSP00000272895:G2187D	G	-	2	0	ABCA12	215526910	1.000000	0.71417	0.964000	0.40570	0.937000	0.57800	5.585000	0.67497	2.831000	0.97527	0.650000	0.86243	GGT	ABCA12	-	NULL	ENSG00000144452		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	86	0	C	NM_173076		215818665	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.999	T	T	215818665	C	T	215818665	3	4	71	1	0	0	0	0	1	0	0	0	30	507	18	3	1267	3	ABCA12	2	215818665	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	50266393	215818665	27380708	31	19162											
AAMP	14	genome.wustl.edu	37	chr2	219131642	219131642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacactttcaagaggccactCatgtcccctgtggccactag	9	9	8	15	0	2	1	2	0	0	1	3	1	3	1	4	2	0	0	4	2	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:219131642C>T	ENST00000248450.4	-	4	632	c.462G>A	c.(460-462)atG>atA	p.M154I	AAMP_ENST00000444053.1_Missense_Mutation_p.M155I|AAMP_ENST00000420660.1_Missense_Mutation_p.M135I			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	154					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|positive regulation of endothelial cell migration (GO:0010595)|smooth muscle cell migration (GO:0014909)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGGCCACTCATGTCCCCTG	0.522																																																	0													76	80	78					2																	219131642		2203	4300	6503	SO:0001583	missense	0			AB209790	CCDS33378.1	2q	2013-01-10			ENSG00000127837	ENSG00000127837		"WD repeat domain containing"	18	protein-coding gene	gene with protein product		603488				7743515	Standard	XM_005246325		Approved		uc002vhk.3	Q13685	OTTHUMG00000155202	ENST00000248450.4:c.462G>A	2.37:g.219131642C>T	ENSP00000248450:p.Met154Ile		Q8WUJ9|Q96H92	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M154I	ENST00000248450.4	37	c.462	CCDS33378.1	2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932318	0.92389	.	.	ENSG00000127837	ENST00000248450;ENST00000444053;ENST00000420660;ENST00000447885	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66616	0.2807	L	0.33792	1.035	0.80722	D	1	D;D;D	0.76494	0.999;0.98;0.989	D;P;P	0.81914	0.995;0.823;0.908	T	0.61525	-0.7045	10	0.22706	T	0.39	-24.7511	18.8213	0.92099	0.0:1.0:0.0:0.0	.	155;154;135	C9JEH3;Q13685;C9JG97	.;AAMP_HUMAN;.	I	154;155;135;108	ENSP00000248450:M154I;ENSP00000403343:M155I;ENSP00000416394:M135I;ENSP00000393818:M108I	ENSP00000248450:M154I	M	-	3	0	AAMP	218839886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.788000	0.85771	2.421000	0.82119	0.655000	0.94253	ATG	AAMP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000127837		0.522	AAMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AAMP	HGNC	protein_coding	OTTHUMT00000338756.1	-	0	77	0	C	NM_001087		219131642	-1	tier1	-	no_errors	ENST00000248450	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	219131642	C	T	219131642	3	4	71	1	0	0	0	0	1	0	0	0	17	826	29	3	874	3	AAMP	2	219131642	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	3312977	219131642	24067731	32	19163											
SLC16A14	151473	genome.wustl.edu	37	chr2	230910801	230910801	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaacgtcgttttgctcCgataagttatacaaattgac	13	12	9	7	3	0	1	0	1	0	0	2	3	1	2	1	1	3	3	1	1	6	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr2:230910801C>T	ENST00000295190.4	-	4	1499	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	347						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTTTTGCTCCGATAAGTTAT	0.423																																																	0													75	71	72					2																	230910801		2203	4300	6503	SO:0001819	synonymous_variant	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1041G>A	2.37:g.230910801C>T			A8KA08|Q53R92|Q96NI7	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S347	ENST00000295190.4	37	c.1041	CCDS2473.1	2																																																																																			SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.423	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2		0	94	0	C	NM_152527		230910801	-1			no_errors	ENST00000295190	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.293	T	T	230910801	C	T	230910801	2	4	71	1	0	0	0	0	0	0	0	1	14452	639	23	1		1	SLC16A14	2	230910801	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	11779159	230910801	12288572	33	19164											
TRIM71	131405	genome.wustl.edu	37	chr3	32859629	32859629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtgcaaggagatgtgCggctcgccggcgccgctctc	4	9	15	13	5	1	1	0	0	1	1	3	2	1	1	2	3	3	4	2	3	1	1	rs372149437		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:32859629C>T	ENST00000383763.5	+	1	120	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	19					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGAGATGTGCGGCTCGCCGG	0.692													C|||	1	0.000199681	0	0	5008	,	,		10706	0		0	False		,,,				2504	0.001																0								C		1,3927		0,1,1963	37	39	38		57	4.4	1	3		38	0,8276		0,0,4138	no	coding-synonymous	TRIM71	NM_001039111.1		0,1,6101	TT,TC,CC		0.0,0.0255,0.0082		19/869	32859629	1,12203	1964	4138	6102	SO:0001819	synonymous_variant	0				CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	32669	protein-coding gene	gene with protein product			"tripartite motif-containing 71", "tripartite motif containing 71"				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.57C>T	3.37:g.32859629C>T				Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.C19	ENST00000383763.5	37	c.57	CCDS43060.1	3																																																																																			TRIM71	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000206557		0.692	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	HGNC	protein_coding	OTTHUMT00000341565.3		0	32	0	C	NM_001039111		32859629	1			no_errors	ENST00000383763	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	32859629	C	T	32859629	2	4	71	1	0	0	0	0	0	0	0	1	16592	776	27	1		1	TRIM71	3	32859629	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09		32859629	165162801	34	19165											
CELSR3	1951	genome.wustl.edu	37	chr3	48697619	48697619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgtagtccagtggcaGagccagagtcaccagaccca	10	7	11	13	0	1	3	1	0	0	3	2	3	2	3	4	1	2	3	4	1	1	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:48697619G>T	ENST00000164024.4	-	1	2729	c.2449C>A	c.(2449-2451)Ctg>Atg	p.L817M	CELSR3_ENST00000544264.1_Missense_Mutation_p.L817M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	817	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCAGTGGCAGAGCCAGAGTC	0.547																																																	0													128	121	124					3																	48697619		2203	4300	6503	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2449C>A	3.37:g.48697619G>T	ENSP00000164024:p.Leu817Met		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.L817M	ENST00000164024.4	37	c.2449	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373457	0.42105	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.51071	0.72;0.72	5.67	4.61	0.57282	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61602	0.2360	L	0.60845	1.875	0.51482	D	0.999923	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60870	-0.7177	9	0.52906	T	0.07	.	10.2635	0.43441	0.2036:0.0:0.7964:0.0	.	817;887	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	817	ENSP00000164024:L817M;ENSP00000445694:L817M	ENSP00000164024:L817M	L	-	1	2	CELSR3	48672623	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.615000	0.61190	2.686000	0.91538	0.561000	0.74099	CTG	CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000008300		0.547	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	-	0	32	0	G	NM_001407		48697619	-1	tier1	-	no_errors	ENST00000544264	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.986	T	T	48697619	G	T	48697619	3	4	71	1	0	0	0	0	1	0	0	0	3230	933	33	3	7629	3	CELSR3	3	48697619	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	15837990	48697619	149324811	35	19166											
NDUFAF3	25915	genome.wustl.edu	37	chr3	49059963	49059963	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccgcactcggtggtgCagtggaacgtgagtcctggc	5	9	15	12	3	0	1	0	1	0	0	3	2	2	2	2	4	3	3	2	4	1	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:49059963C>T	ENST00000326925.6	+	2	1396	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	DALRD3_ENST00000440857.1_5'Flank|MIR191_ENST00000384873.1_RNA|NDUFAF3_ENST00000395458.2_Nonsense_Mutation_p.Q31*|NDUFAF3_ENST00000326912.4_Nonsense_Mutation_p.Q31*|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000313778.5_5'Flank|DALRD3_ENST00000496568.1_5'Flank|NDUFAF3_ENST00000451378.2_Nonsense_Mutation_p.Q31*	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	88					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.Q88K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CTCGGTGGTGCAGTGGAACGT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											26	25	25					3																	49059963		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"Mitochondrial respiratory chain complex assembly factors"	29918	protein-coding gene	gene with protein product		612911	"chromosome 3 open reading frame 60", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.262C>T	3.37:g.49059963C>T	ENSP00000323076:p.Gln88*			Nonsense_Mutation	SNP	pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3	p.Q88*	ENST00000326925.6	37	c.262	CCDS2784.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.221442	0.95139	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-24.1416	18.6934	0.91592	0.0:1.0:0.0:0.0	.	.	.	.	X	31;88;31;31	.	ENSP00000323003:Q31X	Q	+	1	0	NDUFAF3	49034967	1.000000	0.71417	0.999000	0.59377	0.071000	0.16799	7.273000	0.78527	2.509000	0.84616	0.591000	0.81541	CAG	NDUFAF3	-	pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3	ENSG00000178057		0.612	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF3	HGNC	protein_coding	OTTHUMT00000345683.2		0	38	0	C	NM_199069		49059963	1			no_errors	ENST00000326925	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	49059963	C	T	49059963	4	4	71	1	0	0	0	0	0	1	0	0	10315	711	25	3	268	3	NDUFAF3	3	49059963	Nonsense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	362344	49059963	148962467	36	19167											
RBM5	10181	genome.wustl.edu	37	chr3	50129549	50129549	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgatgagcgtgaatccCgaagcaggcggagggactca	11	5	15	10	4	1	3	1	3	0	0	2	6	2	5	2	3	2	1	2	3	2	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:50129549C>A	ENST00000347869.3	+	3	266	c.91C>A	c.(91-93)Cga>Aga	p.R31R	RBM5_ENST00000469838.1_Silent_p.R31R	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	31					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCGTGAATCCCGAAGCAGGCG	0.468																																																	0													130	122	125					3																	50129549		2203	4300	6503	SO:0001819	synonymous_variant	0			U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"G patch domain containing", "RNA binding motif (RRM) containing"	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.91C>A	3.37:g.50129549C>A			B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R31	ENST00000347869.3	37	c.91	CCDS2810.1	3																																																																																			RBM5	-	NULL	ENSG00000003756		0.468	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	HGNC	protein_coding	OTTHUMT00000345797.3		0	98	0	C	NM_005778		50129549	1			no_errors	ENST00000347869	ensembl	human	known	74_37	silent	5.26	71	4	SNP	0.620	A	A	50129549	C	A	50129549	2	1	71	1	0	0	0	0	0	0	0	1	13188	644	23	2		2	RBM5	3	50129549	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	1069586	50129549	147892881	37	19168											
STAB1	23166	genome.wustl.edu	37	chr3	52544055	52544055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcatgcccgctgtgttagCcaggagggtgttgccaggtg	5	10	16	10	1	0	0	0	0	0	0	0	1	0	1	3	3	4	4	3	3	1	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:52544055C>T	ENST00000321725.6	+	23	2593	c.2517C>T	c.(2515-2517)agC>agT	p.S839S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	839	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGTGTTAGCCAGGAGGGTG	0.657																																																	0													63	67	65					3																	52544055		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.2517C>T	3.37:g.52544055C>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S839	ENST00000321725.6	37	c.2517	CCDS33768.1	3																																																																																			STAB1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000010327		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	79	0	C	NM_015136		52544055	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.053	T	T	52544055	C	T	52544055	2	4	71	1	0	0	0	0	0	0	0	1	15284	738	26	3		3	STAB1	3	52544055	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	2414506	52544055	145478375	38	19169											
PXK	54899	genome.wustl.edu	37	chr3	58376920	58376920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaagattaaaaatcaGccaaaggaacggctagtgtt	16	10	10	5	1	1	3	1	2	0	1	1	4	1	4	1	2	2	2	1	2	7	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:58376920G>T	ENST00000356151.2	+	6	622	c.513G>T	c.(511-513)caG>caT	p.Q171H	PXK_ENST00000484288.1_Missense_Mutation_p.Q171H|PXK_ENST00000383715.4_Missense_Mutation_p.Q154H|PXK_ENST00000536660.1_Missense_Mutation_p.Q34H|PXK_ENST00000383716.3_Missense_Mutation_p.Q138H|PXK_ENST00000479241.1_Missense_Mutation_p.Q154H|PXK_ENST00000302779.5_Missense_Mutation_p.Q154H|PXK_ENST00000463280.1_Missense_Mutation_p.Q138H	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TTAAAAATCAGCCAAAGGAAC	0.373																																																	0													94	99	97					3																	58376920		2203	4300	6503	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.513G>T	3.37:g.58376920G>T	ENSP00000348472:p.Gln171His			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom	p.Q171H	ENST00000356151.2	37	c.513	CCDS2889.1	3	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772690	0.69992	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	T;T;T;T;T;T;T;T	0.33654	2.18;2.17;2.17;1.43;1.43;1.44;1.4;2.17	5.64	2.36	0.29203	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054363	0.85682	D	0.000000	T	0.48390	0.1497	M	0.64997	1.995	0.58432	D	0.999998	P;D;P;D;D;D	0.65815	0.947;0.991;0.947;0.993;0.995;0.986	P;P;B;P;P;P	0.60236	0.556;0.835;0.339;0.818;0.871;0.794	T	0.36237	-0.9756	10	0.51188	T	0.08	-13.9652	9.156	0.36994	0.3851:0.0:0.6149:0.0	.	138;138;138;171;154;171	E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.;.;.;PXK_HUMAN;.;.	H	171;154;138;138;154;171;154;34;34	ENSP00000348472:Q171H;ENSP00000305045:Q154H;ENSP00000373222:Q138H;ENSP00000417903:Q138H;ENSP00000373221:Q154H;ENSP00000417915:Q171H;ENSP00000419049:Q154H;ENSP00000438356:Q34H	ENSP00000305045:Q154H	Q	+	3	2	PXK	58351960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.550000	0.45811	0.151000	0.19162	0.563000	0.77884	CAG	PXK	-	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000168297		0.373	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	-	0	70	0	G	NM_017771		58376920	1	tier1	-	no_errors	ENST00000356151	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	58376920	G	T	58376920	3	4	71	1	0	0	0	0	1	0	0	0	12894	962	34	3	535	3	PXK	3	58376920	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	5832865	58376920	139645510	39	19170											
PVRL3	25945	genome.wustl.edu	37	chr3	110852683	110852683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgtaagtgttttggctgGaatattctgctataggagaa	11	15	11	4	0	1	1	0	0	1	1	1	3	1	2	0	3	1	4	0	3	6	8			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:110852683G>T	ENST00000485303.1	+	6	1546	c.1271G>T	c.(1270-1272)gGa>gTa	p.G424V	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	424					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						GTTTTGGCTGGAATATTCTGC	0.408																																																	0													160	158	159					3																	110852683		2203	4300	6503	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1271G>T	3.37:g.110852683G>T	ENSP00000418070:p.Gly424Val		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G424V	ENST00000485303.1	37	c.1271	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794889	0.16327	.	.	ENSG00000177707	ENST00000485303	T	0.13538	2.58	5.88	5.88	0.94601	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.100314	0.64402	D	0.000002	T	0.23054	0.0557	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01105	-1.1450	10	0.02654	T	1	.	17.7895	0.88547	0.0:0.0:1.0:0.0	.	424	Q9NQS3	PVRL3_HUMAN	V	424	ENSP00000418070:G424V	ENSP00000418070:G424V	G	+	2	0	PVRL3	112335373	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	8.552000	0.90682	2.805000	0.96524	0.461000	0.40582	GGA	PVRL3	-	NULL	ENSG00000177707		0.408	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1		0	60	0	G	NM_015480		110852683	1			no_errors	ENST00000485303	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	110852683	G	T	110852683	3	4	71	1	0	0	0	0	1	0	0	0	12886	1174	41	3	1293	3	PVRL3	3	110852683	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	52475763	110852683	87169747	40	19171											
TOPBP1	11073	genome.wustl.edu	37	chr3	133320154	133320154	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagctttcctcttttgtgaTaatccagtcccaagttcctt	7	16	7	11	0	1	1	0	1	1	0	5	2	5	2	4	1	1	2	4	1	2	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:133320154T>A	ENST00000260810.5	-	28	4640	c.4509A>T	c.(4507-4509)ttA>ttT	p.L1503F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1503					cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTTGTGATAATCCAGTCC	0.318								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													52	47	48					3																	133320154		1792	4060	5852	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.4509A>T	3.37:g.133320154T>A	ENSP00000260810:p.Leu1503Phe		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.L1503F	ENST00000260810.5	37	c.4509	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	T	6.687	0.495283	0.12762	.	.	ENSG00000163781	ENST00000260810	T	0.12774	2.65	5.6	3.24	0.37175	.	0.411149	0.26931	N	0.021765	T	0.10508	0.0257	L	0.51422	1.61	0.27615	N	0.948531	B	0.09022	0.002	B	0.09377	0.004	T	0.27872	-1.0061	10	0.36615	T	0.2	.	1.8664	0.03199	0.1282:0.1463:0.1493:0.5761	.	1503	Q92547	TOPB1_HUMAN	F	1503	ENSP00000260810:L1503F	ENSP00000260810:L1503F	L	-	3	2	TOPBP1	134802844	0.900000	0.30661	0.534000	0.28014	0.107000	0.19398	1.033000	0.30191	0.424000	0.26061	0.533000	0.62120	TTA	TOPBP1	-	NULL	ENSG00000163781		0.318	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0	97	0	T	NM_007027		133320154	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	22.68	75	22	SNP	0.804	A	A	133320154	T	A	133320154	3	1	71	1	0	0	0	0	1	0	0	0	16417	1403	49	5	63	5	TOPBP1	3	133320154	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	22467471	133320154	64702276	41	19172											
SLC7A14	57709	genome.wustl.edu	37	chr3	170198523	170198523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcttctatgcctgtggtCatgtccacggtgccgtaatt	6	14	10	11	2	3	0	2	0	1	0	4	0	4	0	3	2	3	2	3	2	2	4	rs115446306		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:170198523C>T	ENST00000231706.5	-	7	1863	c.1548G>A	c.(1546-1548)atG>atA	p.M516I	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	516					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGCCTGTGGTCATGTCCACGG	0.458																																																	0													195	197	196					3																	170198523		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1548G>A	3.37:g.170198523C>T	ENSP00000231706:p.Met516Ile		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.M516I	ENST00000231706.5	37	c.1548	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675558	0.29783	.	.	ENSG00000013293	ENST00000231706	D	0.86769	-2.17	5.6	4.64	0.57946	.	0.205005	0.64402	N	0.000014	T	0.82231	0.4992	L	0.44542	1.39	0.51012	D	0.9999	B	0.16396	0.017	B	0.11329	0.006	T	0.76233	-0.3034	10	0.27082	T	0.32	.	14.0878	0.64971	0.0:0.922:0.0:0.078	.	516	Q8TBB6	S7A14_HUMAN	I	516	ENSP00000231706:M516I	ENSP00000231706:M516I	M	-	3	0	SLC7A14	171681217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.547000	0.36190	1.194000	0.43101	0.655000	0.94253	ATG	SLC7A14	-	NULL	ENSG00000013293		0.458	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	-	0	39	0	C	NM_020949		170198523	-1	tier1	-	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	5.75	344	21	SNP	1.000	T	T	170198523	C	T	170198523	3	4	71	1	0	0	0	0	1	0	0	0	14741	826	29	3	775	3	SLC7A14	3	170198523	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	36878369	170198523	27823907	42	19173											
NAALADL2	254827	genome.wustl.edu	37	chr3	175473128	175473128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggagagagcacccatccGcatccggatgctgaatgaca	13	5	11	12	2	0	3	0	2	0	1	2	6	2	5	3	2	2	3	3	2	2	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr3:175473128G>A	ENST00000454872.1	+	13	2239	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	704						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCACCCATCCGCATCCGGATG	0.483																																																	0													67	66	66					3																	175473128		1936	4139	6075	SO:0001583	missense	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2111G>A	3.37:g.175473128G>A	ENSP00000404705:p.Arg704His		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.R704H	ENST00000454872.1	37	c.2111	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748370	0.30955	.	.	ENSG00000177694	ENST00000454872	T	0.30714	1.52	5.71	5.71	0.89125	Transferrin receptor-like, dimerisation domain (2);	0.076118	0.48286	D	0.000186	T	0.30448	0.0765	N	0.12746	0.255	0.28488	N	0.914625	D	0.63046	0.992	P	0.51266	0.664	T	0.11867	-1.0570	10	0.45353	T	0.12	-11.4838	19.8494	0.96733	0.0:0.0:1.0:0.0	.	704	Q58DX5	NADL2_HUMAN	H	704	ENSP00000404705:R704H	ENSP00000404705:R704H	R	+	2	0	NAALADL2	176955822	1.000000	0.71417	0.275000	0.24674	0.406000	0.30931	6.879000	0.75572	2.694000	0.91930	0.591000	0.81541	CGC	NAALADL2	-	superfamily_TFR-like_dimer_dom	ENSG00000177694		0.483	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2		0	44	0	G	NM_207015		175473128	1			no_errors	ENST00000454872	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.815	A	A	175473128	G	A	175473128	3	1	71	1	0	0	0	0	1	0	0	0	10168	1087	38	1	2161	1	NAALADL2	3	175473128	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	5274605	175473128	22549302	43	19174											
HTT	3064	genome.wustl.edu	37	chr4	3184082	3184082	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgcacgctcttataggTgttggagatgttcattcttg	7	17	11	6	1	3	1	1	0	2	1	3	2	3	1	0	2	1	4	0	2	2	7			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:3184082T>C	ENST00000355072.5	+	37	4896	c.4751T>C	c.(4750-4752)gTg>gCg	p.V1584A		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1584					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTTATAGGTGTTGGAGATG	0.493																																																	0													116	115	115					4																	3184082		2012	4175	6187	SO:0001630	splice_region_variant	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4750-1T>C	4.37:g.3184082T>C			Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.V1584A	ENST00000355072.5	37	c.4751	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	T	24.5	4.538497	0.85917	.	.	ENSG00000197386	ENST00000355072	T	0.10477	2.87	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.76328	2.33	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.03840	-1.0999	10	0.62326	D	0.03	.	13.0237	0.58802	0.0:0.0:0.0:1.0	.	1584	P42858	HD_HUMAN	A	1584	ENSP00000347184:V1584A	ENSP00000347184:V1584A	V	+	2	0	HTT	3153880	1.000000	0.71417	0.999000	0.59377	0.889000	0.51656	7.836000	0.86788	2.005000	0.58758	0.455000	0.32223	GTG	HTT	-	NULL	ENSG00000197386		0.493	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	63	0	T	NM_002111	Missense_Mutation	3184082	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	C	C	3184082	T	C	3184082	5	2	71	1	0	0	0	0	0	0	1	0	7484	1710	59	4	4897	4	HTT	4	3184082	Splice_Site	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09		3184082	187970194	44	19175											
CCDC149	91050	genome.wustl.edu	37	chr4	24838108	24838108	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgacctcttcatggagttGctttaatctctcttgaaggt	7	17	9	8	0	4	2	1	2	3	0	5	3	4	3	1	2	1	3	1	2	2	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:24838108G>A	ENST00000389609.4	-	8	828	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000504487.1_Nonsense_Mutation_p.Q229*	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	174										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TCATGGAGTTGCTTTAATCTC	0.353																																																	0													242	219	227					4																	24838108		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.685C>T	4.37:g.24838108G>A	ENSP00000374260:p.Gln229*		A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Nonsense_Mutation	SNP	pfam_Coiled-coil_dom-contain_pr_149	p.Q229*	ENST00000389609.4	37	c.685	CCDS33967.2	4	.	.	.	.	.	.	.	.	.	.	G	36	5.632585	0.96682	.	.	ENSG00000181982	ENST00000504487;ENST00000389609;ENST00000382116;ENST00000503881	.	.	.	4.71	4.71	0.59529	.	0.168497	0.56097	D	0.000040	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-9.4852	17.8676	0.88800	0.0:0.0:1.0:0.0	.	.	.	.	X	229;229;153;174	.	ENSP00000371550:Q153X	Q	-	1	0	CCDC149	24447206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.431000	0.82371	0.650000	0.86243	CAA	CCDC149	-	pfam_Coiled-coil_dom-contain_pr_149	ENSG00000181982		0.353	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1	-	0	52	0	G	NM_173463		24838108	-1	tier1	-	no_errors	ENST00000504487	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	A	A	24838108	G	A	24838108	4	1	71	1	0	0	0	0	0	1	0	0	2790	1328	46	3	932	3	CCDC149	4	24838108	Nonsense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	21654026	24838108	166316168	45	19176											
KLB	152831	genome.wustl.edu	37	chr4	39439377	39439377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgaaatacgagtgtttgGttatactgcctggtctctcc	9	14	10	8	1	1	2	0	1	1	1	3	3	2	2	2	2	3	2	2	2	4	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:39439377G>A	ENST00000257408.4	+	3	1464	c.1367G>A	c.(1366-1368)gGt>gAt	p.G456D		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	456	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CGAGTGTTTGGTTATACTGCC	0.398																																																	0													207	196	200					4																	39439377		2203	4300	6503	SO:0001583	missense	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1367G>A	4.37:g.39439377G>A	ENSP00000257408:p.Gly456Asp		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G456D	ENST00000257408.4	37	c.1367	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853450	0.91355	.	.	ENSG00000134962	ENST00000257408	T	0.73789	-0.78	5.96	5.96	0.96718	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	H	0.98559	4.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94588	0.7785	10	0.87932	D	0	-17.5195	20.4084	0.99013	0.0:0.0:1.0:0.0	.	456;456	B7ZL50;Q86Z14	.;KLOTB_HUMAN	D	456	ENSP00000257408:G456D	ENSP00000257408:G456D	G	+	2	0	KLB	39115772	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.852000	0.99516	2.827000	0.97445	0.609000	0.83330	GGT	KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	ENSG00000134962		0.398	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	-	0	89	0	G	NM_175737		39439377	1	tier1	-	no_errors	ENST00000257408	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	A	A	39439377	G	A	39439377	3	1	71	1	0	0	0	0	1	0	0	0	8359	1261	44	3	1377	3	KLB	4	39439377	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	14601269	39439377	151714899	46	19177											
POLR2B	5431	genome.wustl.edu	37	chr4	57845161	57845161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttggcaatatgtacgacGcggatgagggtaggtgaacg	10	9	16	6	5	0	2	0	2	0	0	0	4	0	3	0	4	2	4	0	4	5	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:57845161G>T	ENST00000381227.1	+	2	423	c.10G>T	c.(10-12)Gcg>Tcg	p.A4S	POLR2B_ENST00000441246.2_5'UTR|POLR2B_ENST00000431623.2_5'UTR|POLR2B_ENST00000314595.5_Missense_Mutation_p.A4S|NOA1_ENST00000264230.4_5'Flank			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	4					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TATGTACGACGCGGATGAGGG	0.512																																																	0													111	106	107					4																	57845161		2203	4300	6503	SO:0001583	missense	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.10G>T	4.37:g.57845161G>T	ENSP00000370625:p.Ala4Ser		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.A4S	ENST00000381227.1	37	c.10	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230223	0.39399	.	.	ENSG00000047315	ENST00000450656;ENST00000381227;ENST00000314595	T;T	0.76709	-1.04;-1.04	4.79	4.79	0.61399	.	0.447428	0.24927	N	0.034499	T	0.65291	0.2677	N	0.08118	0	0.48571	D	0.999674	P	0.43909	0.821	P	0.46389	0.515	T	0.64015	-0.6506	10	0.21014	T	0.42	.	15.2156	0.73264	0.0:0.0:1.0:0.0	.	4	P30876	RPB2_HUMAN	S	4	ENSP00000370625:A4S;ENSP00000312735:A4S	ENSP00000312735:A4S	A	+	1	0	POLR2B	57539918	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.619000	0.61218	2.639000	0.89480	0.555000	0.69702	GCG	POLR2B	-	NULL	ENSG00000047315		0.512	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	-	0	118	0	G	NM_000938		57845161	1	tier1	-	no_errors	ENST00000314595	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T	T	57845161	G	T	57845161	3	4	71	1	0	0	0	0	1	0	0	0	12254	1087	38	2	12	2	POLR2B	4	57845161	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	18405784	57845161	133309115	47	19178											
EGF	1950	genome.wustl.edu	37	chr4	110901176	110901176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattatgtgtggttctcagAttgggctatgccatcagtaa	9	14	12	6	0	2	1	2	0	1	1	3	2	2	2	1	3	1	3	1	3	3	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:110901176A>G	ENST00000265171.5	+	14	2547	c.2102A>G	c.(2101-2103)gAt>gGt	p.D701G	EGF_ENST00000509793.1_Missense_Mutation_p.D659G|EGF_ENST00000503392.1_Missense_Mutation_p.D701G	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	701					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGGTTCTCAGATTGGGCTATG	0.433																																																	0													230	219	223					4																	110901176		2203	4300	6503	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"epidermal growth factor (beta-urogastrone)"				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2102A>G	4.37:g.110901176A>G	ENSP00000265171:p.Asp701Gly		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.D701G	ENST00000265171.5	37	c.2102	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279651	0.80692	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.91945	-2.94;-2.94;-2.94	5.56	5.56	0.83823	Six-bladed beta-propeller, TolB-like (1);	0.043067	0.85682	D	0.000000	D	0.97009	0.9023	M	0.93241	3.395	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.72075	0.969;0.976;0.969	D	0.98045	1.0384	10	0.87932	D	0	.	15.7219	0.77718	1.0:0.0:0.0:0.0	.	701;659;701	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	G	659;701;701	ENSP00000424316:D659G;ENSP00000265171:D701G;ENSP00000421384:D701G	ENSP00000265171:D701G	D	+	2	0	EGF	111120625	1.000000	0.71417	0.961000	0.40146	0.970000	0.65996	7.829000	0.86735	2.112000	0.64535	0.533000	0.62120	GAT	EGF	-	pirsf_Pro-epidermal_GF,smart_LDLR_classB_rpt	ENSG00000138798		0.433	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	-	0	68	0	A			110901176	1	tier1	-	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	35.21	46	25	SNP	1.000	G	G	110901176	A	G	110901176	3	3	71	1	0	0	0	0	1	0	0	0	4976	333	12	4	2156	4	EGF	4	110901176	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	53056015	110901176	80253100	48	19179											
NDST4	64579	genome.wustl.edu	37	chr4	115997643	115997643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagctagattattgaaaaGgtttaacggaaagcctttta	15	13	9	4	1	0	3	0	1	0	2	0	4	0	4	1	2	3	2	1	2	8	8	rs564044682		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:115997643G>T	ENST00000264363.2	-	2	1228	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	184	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.L184V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTATTGAAAAGGTTTAACGGA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											72	72	72					4																	115997643		2203	4300	6503	SO:0001583	missense	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.550C>A	4.37:g.115997643G>T	ENSP00000264363:p.Leu184Ile		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L184I	ENST00000264363.2	37	c.550	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	G	9.214	1.031595	0.19590	.	.	ENSG00000138653	ENST00000264363	T	0.39406	1.08	5.25	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	L	0.39397	1.21	0.51233	D	0.999912	B	0.12013	0.005	B	0.22880	0.042	T	0.08249	-1.0731	10	0.11182	T	0.66	.	12.9535	0.58413	0.0792:0.0:0.9208:0.0	.	184	Q9H3R1	NDST4_HUMAN	I	184	ENSP00000264363:L184I	ENSP00000264363:L184I	L	-	1	0	NDST4	116217092	1.000000	0.71417	0.760000	0.31359	0.818000	0.46254	4.789000	0.62446	1.170000	0.42753	0.591000	0.81541	CTT	NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.388	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0	74	0	G	NM_022569		115997643	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	17.65	42	9	SNP	0.996	T	T	115997643	G	T	115997643	3	4	71	1	0	0	0	0	1	0	0	0	10297	1000	35	3	2120	3	NDST4	4	115997643	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	5096467	115997643	75156633	49	19180											
FAT4	79633	genome.wustl.edu	37	chr4	126242539	126242539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagcagctagccccagagGatctgaggccccagtggagt	11	5	14	11	0	1	3	0	1	1	2	1	5	1	5	4	3	3	2	4	3	2	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:126242539G>T	ENST00000394329.3	+	1	4986	c.4973G>T	c.(4972-4974)gGa>gTa	p.G1658V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1658	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCCCCAGAGGATCTGAGGCC	0.408																																																	0													82	84	83					4																	126242539		1847	4080	5927	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4973G>T	4.37:g.126242539G>T	ENSP00000377862:p.Gly1658Val		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G1658V	ENST00000394329.3	37	c.4973	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076556	0.55753	.	.	ENSG00000196159	ENST00000394329	T	0.51574	0.7	4.49	4.49	0.54785	Cadherin (3);Cadherin-like (1);	0.000000	0.34200	U	0.004164	T	0.63733	0.2536	M	0.88377	2.95	0.80722	D	1	D	0.55605	0.972	P	0.50659	0.647	T	0.72874	-0.4160	10	0.62326	D	0.03	.	13.9678	0.64221	0.0:0.1524:0.8476:0.0	.	1658	Q6V0I7	FAT4_HUMAN	V	1658	ENSP00000377862:G1658V	ENSP00000377862:G1658V	G	+	2	0	FAT4	126461989	1.000000	0.71417	0.872000	0.34217	0.899000	0.52679	7.469000	0.80959	2.345000	0.79718	0.650000	0.86243	GGA	FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	88	0	G	NM_024582		126242539	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.998	T	T	126242539	G	T	126242539	3	4	71	1	0	0	0	0	1	0	0	0	5714	1174	41	3	4975	3	FAT4	4	126242539	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	10244896	126242539	64911737	50	19181											
FAT1	2195	genome.wustl.edu	37	chr4	187629096	187629096	+	Frame_Shift_Del	DEL	G	G	-																															cacctaagccatccattagcGatcgctttaatgacaatacc																										TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr4:187629096delG	ENST00000441802.2	-	2	2095	c.1886delC	c.(1885-1887)tcgfs	p.S629fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	629	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCATTAGCGATCGCTTTAA	0.403										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													84	78	80					4																	187629096		1878	4098	5976	SO:0001589	frameshift_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1886delC	4.37:g.187629096delG	ENSP00000406229:p.Ser629fs			Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S629fs	ENST00000441802.2	37	c.1886	CCDS47177.1	4																																																																																			FAT1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0	75	0	G	NM_005245		187629096	-1	tier1		no_errors	ENST00000441802	ensembl	human	known	74_37	frame_shift_del	27.03	54	20	DEL	0.998	-	-	187629096	G	-	187629096	7	5	71	1	0	1	0	1	0	0	0	0	5711	1059	37	0	11984	0	FAT1	4	187629096	Frame_Shift_Del	DEL	G	TCGA-L5-A88S-01A-11D-A36J-09	61386557	187629096	3525180	51	19182											
PDZD2	23037	genome.wustl.edu	37	chr5	32057775	32057775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactaggggatgaaatcctaGatgtaaatggaataccaata	17	9	9	6	0	0	2	0	1	0	1	1	4	1	4	2	3	1	1	2	3	9	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:32057775G>C	ENST00000438447.1	+	11	2303	c.1915G>C	c.(1915-1917)Gat>Cat	p.D639H	PDZD2_ENST00000282493.3_Missense_Mutation_p.D639H			O15018	PDZD2_HUMAN	PDZ domain containing 2	639	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGAAATCCTAGATGTAAATGG	0.338											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													115	115	115					5																	32057775		2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1915G>C	5.37:g.32057775G>C	ENSP00000402033:p.Asp639His	829	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D639H	ENST00000438447.1	37	c.1915	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722182	0.68959	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.27104	1.69;1.69	5.82	4.95	0.65309	PDZ/DHR/GLGF (4);	0.000000	0.47093	D	0.000251	T	0.34337	0.0894	N	0.16790	0.44	0.40409	D	0.979738	D;D	0.89917	0.995;1.0	D;D	0.72982	0.95;0.979	T	0.32268	-0.9913	10	0.62326	D	0.03	.	14.0425	0.64684	0.0:0.0:0.8478:0.1522	.	465;639	B4E3P2;O15018	.;PDZD2_HUMAN	H	639;458;639	ENSP00000402033:D639H;ENSP00000282493:D639H	ENSP00000282493:D639H	D	+	1	0	PDZD2	32093532	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.911000	0.92721	1.457000	0.47850	-0.188000	0.12872	GAT	PDZD2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000133401		0.338	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	48	0	G			32057775	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	C	C	32057775	G	C	32057775	3	2	71	1	0	0	0	0	1	0	0	0	11740	942	33	5	1953	5	PDZD2	5	32057775	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09		32057775	148857485	52	19183											
IL6ST	3572	genome.wustl.edu	37	chr5	55256372	55256372	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagatcgggtggatgcTgtgtcttcaggaggaatctg	10	11	15	5	1	3	2	1	1	2	1	4	5	3	5	0	4	1	1	0	4	3	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:55256372T>A	ENST00000381298.2	-	8	1143	c.831A>T	c.(829-831)acA>acT	p.T277T	IL6ST_ENST00000536319.1_Silent_p.T277T|IL6ST_ENST00000336909.5_Silent_p.T277T|IL6ST_ENST00000502326.3_Silent_p.T277T|IL6ST_ENST00000381293.2_Silent_p.T111T|IL6ST_ENST00000381294.3_Silent_p.T277T|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381287.4_Silent_p.T277T|IL6ST_ENST00000522633.2_Silent_p.T277T	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	277	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGGTGGATGCTGTGTCTTCAG	0.363			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	0													96	86	89					5																	55256372		2203	4300	6503	SO:0001819	synonymous_variant	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.831A>T	5.37:g.55256372T>A			A0N0L4|Q5FC04|Q9UQ41	Silent	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T277	ENST00000381298.2	37	c.831	CCDS3971.1	5																																																																																			IL6ST	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134352		0.363	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3	-	0	51	0	T	NM_002184		55256372	-1	tier1	-	no_errors	ENST00000336909	ensembl	human	known	74_37	silent	21.67	47	13	SNP	0.997	A	A	55256372	T	A	55256372	2	1	71	1	0	0	0	0	0	0	0	1	7730	1567	55	5		5	IL6ST	5	55256372	Silent	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	23198597	55256372	125658888	53	19184											
ERCC8	1161	genome.wustl.edu	37	chr5	60183321	60183321	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacccaagccagaatgttGcagtctctgctaccactata	12	9	8	12	0	1	1	0	0	1	1	2	2	1	2	3	1	5	3	3	1	6	4	rs141898557		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:60183321G>T	ENST00000265038.5	-	11	1110	c.1068C>A	c.(1066-1068)tgC>tgA	p.C356*	ERCC8_ENST00000543101.1_Nonsense_Mutation_p.C203*|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Nonsense_Mutation_p.C298*	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8	356					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)	p.C356C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CCAGAATGTTGCAGTCTCTGC	0.348																																																	1	Substitution - coding silent(1)	kidney(1)						G	stop/CYS	0,4406		0,0,2203	121	116	118		1068	5.2	1	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ERCC8	NM_000082.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		356/397	60183321	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"WD repeat domain containing"	3439	protein-coding gene	gene with protein product		609412	"Cockayne syndrome 1 (classical)", "excision repair cross-complementing rodent repair deficiency, complementation group 8"	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.1068C>A	5.37:g.60183321G>T	ENSP00000265038:p.Cys356*		B2RB64|Q6FHX5|Q96GB9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.C356*	ENST00000265038.5	37	c.1068	CCDS3978.1	5	.	.	.	.	.	.	.	.	.	.	G	40	7.983116	0.98594	0.0	1.16E-4	ENSG00000049167	ENST00000426742;ENST00000265038;ENST00000543101;ENST00000536596	.	.	.	5.23	5.23	0.72850	.	0.043688	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.8869	17.1731	0.86834	0.0:0.0:1.0:0.0	.	.	.	.	X	298;356;203;355	.	ENSP00000265038:C356X	C	-	3	2	ERCC8	60219078	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	2.999000	0.49473	2.725000	0.93324	0.591000	0.81541	TGC	ERCC8	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000049167		0.348	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2		0	84	0	G	NM_000082		60183321	-1			no_errors	ENST00000265038	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	1.000	T	T	60183321	G	T	60183321	4	4	71	1	0	0	0	0	0	1	0	0	5235	1311	46	3	130	3	ERCC8	5	60183321	Nonsense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	4926949	60183321	120731939	54	19185											
POC5	134359	genome.wustl.edu	37	chr5	75001600	75001601	+	Frame_Shift_Ins	INS	-	-	CA																															tattgcagtttctcttacttINScagagttatttcctgccaaa																										TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:75001600_75001601insCA	ENST00000428202.2	-	4	424_425	c.235_236insTG	c.(235-237)gaafs	p.E79fs	POC5_ENST00000514838.2_Intron|POC5_ENST00000504862.1_5'UTR|POC5_ENST00000446329.2_Frame_Shift_Ins_p.E54fs|POC5_ENST00000380475.2_5'UTR|POC5_ENST00000510798.1_5'UTR	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	79					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTCTCTTACTTCAGAGTTATTT	0.292																																																	0																																										SO:0001589	frameshift_variant	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 37", "POC5 centriolar protein homolog (Chlamydomonas)"	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.234_235dupTG	5.37:g.75001601_75001602dupCA	ENSP00000410216:p.Glu79fs		B4DJG7|Q494X7|Q494X9|Q6P085	Frame_Shift_Ins	INS	NULL	p.E79fs	ENST00000428202.2	37	c.236_235	CCDS47236.1	5																																																																																			POC5	-	NULL	ENSG00000152359		0.292	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1		0	121	0	-	NM_152408		75001601	-1	tier1		no_errors	ENST00000428202	ensembl	human	known	74_37	frame_shift_ins	10.09	98	11	INS	0.000:0.013	CA	CA	75001601	-	CA	75001600	7	5	71	1	0	1	1	0	0	0	0	0	12216	1783	62	0	1527	0	POC5	5	75001600	Frame_Shift_Ins	INS	-	TCGA-L5-A88S-01A-11D-A36J-09	14818279	75001600	105913660	55	19186											
CEP120	153241	genome.wustl.edu	37	chr5	122717867	122717867	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattcctctgcaagagcctGcatatgagccagttctttct	8	13	7	13	0	3	2	0	1	3	1	4	2	4	2	4	0	4	3	4	0	2	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:122717867G>A	ENST00000306467.5	-	14	2345	c.2041C>T	c.(2041-2043)Cag>Tag	p.Q681*	CEP120_ENST00000328236.5_Nonsense_Mutation_p.Q681*|CEP120_ENST00000306481.6_Nonsense_Mutation_p.Q655*			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	681					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GCAAGAGCCTGCATATGAGCC	0.368																																																	0													114	113	113					5																	122717867		2203	4299	6502	SO:0001587	stop_gained	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"coiled-coil domain containing 100"	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2041C>T	5.37:g.122717867G>A	ENSP00000303058:p.Gln681*		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Nonsense_Mutation	SNP	pfam_DUF3668,superfamily_C2_dom	p.Q681*	ENST00000306467.5	37	c.2041	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	39	7.751545	0.98468	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	.	.	.	5.1	4.2	0.49525	.	0.056050	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	-11.6201	14.6107	0.68514	0.0:0.0:0.8527:0.1473	.	.	.	.	X	681;681;655;655	.	ENSP00000303058:Q681X	Q	-	1	0	CEP120	122745766	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.896000	0.69822	1.237000	0.43756	0.585000	0.79938	CAG	CEP120	-	NULL	ENSG00000168944		0.368	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2		0	81	0	G	NM_153223		122717867	-1			no_errors	ENST00000306467	ensembl	human	known	74_37	nonsense	6.17	76	5	SNP	1.000	A	A	122717867	G	A	122717867	4	1	71	1	0	0	0	0	0	1	0	0	3253	1328	46	3	947	3	CEP120	5	122717867	Nonsense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	47716267	122717867	58197393	56	19187											
CHSY3	337876	genome.wustl.edu	37	chr5	129520782	129520782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatgtgtcttatcccaaaGcagaatgtaaagttggtcat	14	12	8	7	0	2	1	1	0	1	1	3	1	3	1	1	1	2	3	1	1	6	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:129520782G>T	ENST00000305031.4	+	3	2305	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	649					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.K649N(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTATCCCAAAGCAGAATGTAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											78	80	80					5																	129520782		2203	4300	6503	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1947G>T	5.37:g.129520782G>T	ENSP00000302629:p.Lys649Asn		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.K649N	ENST00000305031.4	37	c.1947	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	G	1.470	-0.560151	0.03967	.	.	ENSG00000198108	ENST00000305031	T	0.34275	1.37	4.12	2.29	0.28610	.	0.320592	0.26387	N	0.024671	T	0.10423	0.0255	N	0.01168	-0.975	0.43947	D	0.996615	B	0.09022	0.002	B	0.14023	0.01	T	0.08391	-1.0724	9	.	.	.	-7.9195	5.4618	0.16622	0.086:0.1439:0.622:0.1481	.	649	Q70JA7	CHSS3_HUMAN	N	649	ENSP00000302629:K649N	.	K	+	3	2	CHSY3	129548681	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.599000	0.36751	0.646000	0.30693	0.650000	0.86243	AAG	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1		0	34	0	G	NM_175856		129520782	1			no_errors	ENST00000305031	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	129520782	G	T	129520782	3	4	71	1	0	0	0	0	1	0	0	0	3420	962	34	3	1957	3	CHSY3	5	129520782	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	6802915	129520782	51394478	57	19188											
CCNI2	645121	genome.wustl.edu	37	chr5	132088631	132088631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcttcagtcatcctcctGcacagacaactttgtgtcac	10	12	6	13	0	4	1	3	0	1	1	6	1	6	1	2	0	2	1	2	0	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:132088631G>A	ENST00000378731.1	+	6	1130	c.1079G>A	c.(1078-1080)tGc>tAc	p.C360Y	SEPT8_ENST00000481030.1_Intron|SEPT8_ENST00000378719.2_Intron	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	360					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCATCCTCCTGCACAGACAAC	0.498																																																	0													126	107	113					5																	132088631		2203	4300	6503	SO:0001583	missense	0			BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.1079G>A	5.37:g.132088631G>A	ENSP00000368005:p.Cys360Tyr		B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.C360Y	ENST00000378731.1	37	c.1079	CCDS34236.1	5	.	.	.	.	.	.	.	.	.	.	g	11.52	1.661993	0.29515	.	.	ENSG00000205089	ENST00000378731	T	0.20598	2.06	5.44	2.35	0.29111	.	2.107470	0.02924	N	0.138286	T	0.23133	0.0559	N	0.19112	0.55	0.09310	N	1	P;P;P	0.50617	0.937;0.838;0.937	P;P;P	0.51806	0.68;0.548;0.68	T	0.12218	-1.0556	10	0.72032	D	0.01	.	4.8266	0.13419	0.2989:0.1538:0.5473:0.0	.	361;376;360	B7ZMB7;B7ZMB8;Q6ZMN8	.;.;CCNI2_HUMAN	Y	360	ENSP00000368005:C360Y	ENSP00000368005:C360Y	C	+	2	0	CCNI2	132116530	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.299000	0.19138	0.343000	0.23821	0.651000	0.88453	TGC	CCNI2	-	NULL	ENSG00000205089		0.498	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CCNI2	HGNC	protein_coding	OTTHUMT00000132833.1	-	0	46	0	G	NM_001039780		132088631	1	tier1	-	no_errors	ENST00000378731	ensembl	human	novel	74_37	missense	18.00	41	9	SNP	0.000	A	A	132088631	G	A	132088631	3	1	71	1	0	0	0	0	1	0	0	0	2934	1319	46	3	1101	3	CCNI2	5	132088631	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	2567849	132088631	48826629	58	19189											
PCDHA10	56139	genome.wustl.edu	37	chr5	140235896	140235896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtttgtgaattctcGgattgaccgcgaggagctgt	7	15	12	7	3	1	2	0	2	1	0	2	5	1	4	1	2	1	2	1	2	1	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:140235896G>A	ENST00000307360.5	+	1	263	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R88Q|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	88	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATTGACCGC	0.592																																																	0													119	128	125					5																	140235896		2198	4277	6475	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.263G>A	5.37:g.140235896G>A	ENSP00000304234:p.Arg88Gln		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R88Q	ENST00000307360.5	37	c.263	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	19.46	3.830854	0.71258	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.34859	1.34;1.34	4.27	4.27	0.50696	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.67277	0.2876	H	0.95470	3.675	0.22918	N	0.998569	D;D;D	0.89917	1.0;0.995;0.993	D;P;P	0.66847	0.947;0.896;0.877	T	0.62459	-0.6850	9	0.87932	D	0	.	9.3741	0.38272	0.1663:0.0:0.8337:0.0	.	88;88;88	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	Q	88	ENSP00000421030:R88Q;ENSP00000304234:R88Q	ENSP00000304234:R88Q	R	+	2	0	PCDHA10	140216080	0.000000	0.05858	1.000000	0.80357	0.970000	0.65996	0.235000	0.17948	2.391000	0.81399	0.556000	0.70494	CGG	PCDHA10	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000250120		0.592	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	165	0	G	NM_018901		140235896	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	22.87	145	43	SNP	1.000	A	A	140235896	G	A	140235896	3	1	71	1	0	0	0	0	1	0	0	0	11559	1116	39	1	265	1	PCDHA10	5	140235896	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	8147265	140235896	40679364	59	19190											
PCDHB12	56124	genome.wustl.edu	37	chr5	140589663	140589663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccattcgtgctaaaatCttcggtaaataattactaca	14	13	4	10	2	1	0	0	0	1	0	4	0	2	0	1	1	3	2	1	1	7	7			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:140589663C>T	ENST00000239450.2	+	1	1373	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S58F	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTAAAATCTTCGGTAAAT	0.488																																																	0													65	66	66					5																	140589663		2203	4300	6503	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1184C>T	5.37:g.140589663C>T	ENSP00000239450:p.Ser395Phe		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S395F	ENST00000239450.2	37	c.1184	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109124	0.20714	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.53640	0.61;0.61	3.87	2.98	0.34508	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68723	0.3032	M	0.89414	3.03	0.09310	N	1	P	0.45531	0.86	P	0.59948	0.866	T	0.59075	-0.7522	9	0.87932	D	0	.	9.3922	0.38381	0.1618:0.6814:0.1567:0.0	.	395	Q9Y5F1	PCDBC_HUMAN	F	58;395;15	ENSP00000440199:S58F;ENSP00000239450:S395F	ENSP00000239450:S395F	S	+	2	0	PCDHB12	140569847	0.000000	0.05858	0.014000	0.15608	0.085000	0.17905	1.261000	0.32980	0.706000	0.31912	0.491000	0.48974	TCT	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.488	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0	154	0	C	NM_018932		140589663	1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	missense	24.59	92	30	SNP	0.001	T	T	140589663	C	T	140589663	3	4	71	1	0	0	0	0	1	0	0	0	11576	913	32	3	1186	3	PCDHB12	5	140589663	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	353767	140589663	40325597	60	19191											
PCDH12	51294	genome.wustl.edu	37	chr5	141335614	141335614	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaggtgtgtcagtgccCgctgggcccaagccattggg	6	8	17	10	1	1	0	1	0	0	0	1	1	1	1	3	4	2	1	3	4	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:141335614C>T	ENST00000231484.3	-	1	3013	c.1803G>A	c.(1801-1803)gcG>gcA	p.A601A	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCAGTGCCCGCTGGGCCCA	0.607																																																	0													49	45	47					5																	141335614		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"Cadherins / Protocadherins : Non-clustered"	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1803G>A	5.37:g.141335614C>T			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A601	ENST00000231484.3	37	c.1803	CCDS4269.1	5																																																																																			PCDH12	-	superfamily_Cadherin-like	ENSG00000113555		0.607	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	-	0	101	0	C	NM_016580		141335614	-1	tier1	-	no_errors	ENST00000231484	ensembl	human	known	74_37	silent	21.85	118	33	SNP	0.000	T	T	141335614	C	T	141335614	2	4	71	1	0	0	0	0	0	0	0	1	11549	639	23	1		1	PCDH12	5	141335614	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	745951	141335614	39579646	61	19192											
MAML1	9794	genome.wustl.edu	37	chr5	179192504	179192504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcccccctcggtcagtctGacaagccttctggagccgac	6	8	9	18	2	3	1	1	1	2	0	5	3	4	2	6	2	2	0	6	2	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr5:179192504G>A	ENST00000292599.3	+	2	756	c.493G>A	c.(493-495)Gac>Aac	p.D165N	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.D202Y(1)|p.D165Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTCAGTCTGACAAGCCTTC	0.597																																																	2	Substitution - Missense(2)	lung(2)											35	39	38					5																	179192504		2203	4300	6503	SO:0001583	missense	0			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"mastermind homolog"	605424	"mastermind (drosophila)-like 1"			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.493G>A	5.37:g.179192504G>A	ENSP00000292599:p.Asp165Asn			Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.D165N	ENST00000292599.3	37	c.493	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202770	0.38905	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.41400	1.0	4.91	3.97	0.46021	.	0.327494	0.28677	N	0.014517	T	0.57755	0.2075	M	0.72894	2.215	0.33322	D	0.567479	D;D	0.71674	0.998;0.998	D;P	0.70227	0.968;0.867	T	0.67917	-0.5546	10	0.52906	T	0.07	-12.7403	8.3582	0.32342	0.0826:0.1575:0.7599:0.0	.	202;165	Q59GH4;Q92585	.;MAML1_HUMAN	N	165;202	ENSP00000292599:D165N	ENSP00000292599:D165N	D	+	1	0	MAML1	179125110	1.000000	0.71417	0.904000	0.35570	0.136000	0.21042	4.827000	0.62723	2.256000	0.74724	0.462000	0.41574	GAC	MAML1	-	NULL	ENSG00000161021		0.597	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2		0	49	0	G	NM_014757		179192504	1			no_errors	ENST00000292599	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.998	A	A	179192504	G	A	179192504	3	1	71	1	0	0	0	0	1	0	0	0	9243	1290	45	3	499	3	MAML1	5	179192504	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	37856890	179192504	1722756	62	19193											
KIAA0319	9856	genome.wustl.edu	37	chr6	24569066	24569066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccctgctggtctttcaCtgtcaaacggaagtggtagg	8	11	12	10	1	3	0	2	0	1	0	4	1	4	1	1	4	2	2	1	4	3	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:24569066C>T	ENST00000378214.3	-	13	2607	c.2083G>A	c.(2083-2085)Gtg>Atg	p.V695M	KIAA0319_ENST00000543707.1_Missense_Mutation_p.V695M|KIAA0319_ENST00000535378.1_Missense_Mutation_p.V686M|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V695M|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V650M	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	695	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGGTCTTTCACTGTCAAACGG	0.547																																																	0													139	115	124					6																	24569066		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2083G>A	6.37:g.24569066C>T	ENSP00000367459:p.Val695Met		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.V695M	ENST00000378214.3	37	c.2083	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907481	0.72868	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	3.82	3.82	0.43975	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (1);	0.000000	0.50627	D	0.000112	T	0.59088	0.2168	H	0.97051	3.93	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76408	-0.2970	10	0.87932	D	0	-14.8833	15.9176	0.79535	0.0:1.0:0.0:0.0	.	695;686;695	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	M	695;686;650;695;695	ENSP00000439700:V695M;ENSP00000442403:V686M;ENSP00000401086:V650M;ENSP00000367459:V695M;ENSP00000437656:V695M	ENSP00000367459:V695M	V	-	1	0	KIAA0319	24677045	1.000000	0.71417	0.875000	0.34327	0.780000	0.44128	6.140000	0.71738	1.954000	0.56735	0.650000	0.86243	GTG	KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.547	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	60	0	C	NM_014809		24569066	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	T	T	24569066	C	T	24569066	3	4	71	1	0	0	0	0	1	0	0	0	8195	565	20	3	1171	3	KIAA0319	6	24569066	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09		24569066	146546001	63	19194											
BTN3A3	10384	genome.wustl.edu	37	chr6	26452620	26452620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccataagctacaggcacGcactgaagcactttactgat	14	8	8	11	1	0	2	0	2	0	0	0	3	0	2	1	1	5	4	1	1	5	4	rs144256388		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:26452620G>A	ENST00000244519.2	+	11	1979	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	BTN3A3_ENST00000361232.3_Missense_Mutation_p.R530H|BTN3A3_ENST00000339789.4_Missense_Mutation_p.R537H	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	579					T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.R579H(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTACAGGcacgcactgaagca	0.463																																																	1	Substitution - Missense(1)	lung(1)						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	36	32	33		1106,1736,1589	-3	0	6	dbSNP_134	33	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BTN3A3	NM_001242803.1,NM_006994.4,NM_197974.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	369/375,579/585,530/536	26452620	1,13005	2203	4300	6503	SO:0001583	missense	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1736G>A	6.37:g.26452620G>A	ENSP00000244519:p.Arg579His		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.R579H	ENST00000244519.2	37	c.1736	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	0.596	-0.831123	0.02713	0.0	1.16E-4	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.39229	1.15;1.09;1.09	1.48	-2.96	0.05547	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31364	-0.9946	9	0.40728	T	0.16	.	1.5152	0.02504	0.4283:0.0:0.2652:0.3064	.	530;579	E9PCP5;O00478	.;BT3A3_HUMAN	H	579;537;530	ENSP00000244519:R579H;ENSP00000344968:R537H;ENSP00000355238:R530H	ENSP00000244519:R579H	R	+	2	0	BTN3A3	26560599	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.866000	0.01647	-0.330000	0.08514	-1.006000	0.02489	CGC	BTN3A3	-	NULL	ENSG00000111801		0.463	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2		0	56	0	G	NM_006994		26452620	1			no_errors	ENST00000244519	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.001	A	A	26452620	G	A	26452620	3	1	71	1	0	0	0	0	1	0	0	0	1568	1087	38	1	1770	1	BTN3A3	6	26452620	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	1883554	26452620	144662447	64	19195											
VARS2	57176	genome.wustl.edu	37	chr6	30892146	30892146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggctgtgaagcccGtgctgtggcactcgccccgc	5	7	14	15	3	0	1	0	1	0	0	2	2	1	2	4	3	2	3	4	3	1	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:30892146G>A	ENST00000321897.5	+	25	3114	c.2482G>A	c.(2482-2484)Gtg>Atg	p.V828M	VARS2_ENST00000541562.1_Missense_Mutation_p.V858M|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.V688M|VARS2_ENST00000416670.2_Missense_Mutation_p.V828M			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	828					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.V828M(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGTGAAGCCCGTGCTGTGGCA	0.697																																																	1	Substitution - Missense(1)	ovary(1)											29	37	34					6																	30892146		1503	2691	4194	SO:0001583	missense	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2482G>A	6.37:g.30892146G>A	ENSP00000316092:p.Val828Met		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.V858M	ENST00000321897.5	37	c.2572	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147198	0.37923	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.47	2.69	0.31865	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.879091	0.10016	N	0.726569	T	0.08802	0.0218	L	0.51914	1.62	0.09310	N	1	D;P;P;P	0.53462	0.96;0.842;0.81;0.733	P;B;B;B	0.51833	0.681;0.443;0.316;0.166	T	0.21861	-1.0233	10	0.52906	T	0.07	-0.55	6.0083	0.19559	0.1667:0.3296:0.5037:0.0	.	266;826;858;828	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	M	828;828;688;858	ENSP00000316092:V828M;ENSP00000394802:V828M;ENSP00000438200:V688M;ENSP00000441000:V858M	ENSP00000316092:V828M	V	+	1	0	VARS2	31000125	0.957000	0.32711	0.001000	0.08648	0.001000	0.01503	1.662000	0.37418	0.261000	0.21753	-0.886000	0.02939	GTG	VARS2	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase	ENSG00000137411		0.697	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2		0	40	0	G	NM_020442		30892146	1			no_errors	ENST00000541562	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.074	A	A	30892146	G	A	30892146	3	1	71	1	0	0	0	0	1	0	0	0	17173	1145	40	1	2674	1	VARS2	6	30892146	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	4439526	30892146	140222921	65	19196											
TNXB	7148	genome.wustl.edu	37	chr6	32024678	32024678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggtggtctcggcttcatCctctggagttggacagacac	6	12	13	10	1	3	1	1	0	2	1	5	3	4	3	1	5	0	2	1	5	0	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:32024678C>A	ENST00000375244.3	-	23	8029	c.7828G>T	c.(7828-7830)Gat>Tat	p.D2610Y	TNXB_ENST00000375247.2_Missense_Mutation_p.D2610Y			P22105	TENX_HUMAN	tenascin XB	2670	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCGGCTTCATCCTCTGGAGTT	0.582																																																	0													79	97	90					6																	32024678		1392	2602	3994	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7828G>T	6.37:g.32024678C>A	ENSP00000364393:p.Asp2610Tyr		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.D2610Y	ENST00000375244.3	37	c.7828		6	.	.	.	.	.	.	.	.	.	.	C	10.19	1.282688	0.23392	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56776	0.52;0.44	4.09	0.833	0.18875	.	2.044790	0.02752	N	0.117612	T	0.30541	0.0768	N	0.24115	0.695	0.09310	N	1	D	0.54047	0.964	P	0.54312	0.748	T	0.14504	-1.0470	10	0.52906	T	0.07	.	3.9259	0.09263	0.1865:0.5749:0.0:0.2386	.	2610	P22105-3	.	Y	2610	ENSP00000364393:D2610Y;ENSP00000364396:D2610Y	ENSP00000364393:D2610Y	D	-	1	0	TNXB	32132656	.	.	0.010000	0.14722	0.115000	0.19883	.	.	-0.202000	0.10268	-0.683000	0.03753	GAT	TNXB	-	NULL	ENSG00000168477		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	96	0	C	NM_019105		32024678	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	17.78	73	16	SNP	0.032	A	A	32024678	C	A	32024678	3	1	71	1	0	0	0	0	1	0	0	0	16393	855	30	3	6973	3	TNXB	6	32024678	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	1132532	32024678	139090389	66	19197											
DST	667	genome.wustl.edu	37	chr6	56418172	56418172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggttttaattgtattaaGctgtaactgtaaggctgcct	10	17	9	5	0	0	0	0	0	0	0	0	0	0	0	1	2	3	6	1	2	5	8			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:56418172G>T	ENST00000361203.3	-	57	14792	c.14785C>A	c.(14785-14787)Ctt>Att	p.L4929I	DST_ENST00000312431.6_3'UTR|DST_ENST00000370754.5_Missense_Mutation_p.L5109I|DST_ENST00000446842.2_Missense_Mutation_p.L4605I|DST_ENST00000244364.6_Missense_Mutation_p.L2517I|DST_ENST00000370769.4_Missense_Mutation_p.L4931I|DST_ENST00000370788.2_Missense_Mutation_p.L2843I|DST_ENST00000421834.2_Missense_Mutation_p.L2843I			Q03001	DYST_HUMAN	dystonin	4929					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTGTATTAAGCTGTAACTGT	0.338																																																	0													117	110	112					6																	56418172		1816	4080	5896	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14785C>A	6.37:g.56418172G>T	ENSP00000354508:p.Leu4929Ile		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L5109I	ENST00000361203.3	37	c.15325		6	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364885	0.41902	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.61	4.68	0.58851	.	0.144721	0.31821	N	0.007008	T	0.52451	0.1735	M	0.64170	1.965	0.25823	N	0.984266	B;P;P;B;B	0.52061	0.083;0.95;0.95;0.142;0.077	B;P;P;B;B	0.60415	0.097;0.874;0.773;0.072;0.099	T	0.54186	-0.8331	9	0.38643	T	0.18	.	8.8207	0.35025	0.0768:0.0:0.6979:0.2253	.	2843;4931;5109;4929;2517	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	I	2517;5109;4931;2843;4605;2843;4929	ENSP00000244364:L2517I;ENSP00000359790:L5109I;ENSP00000359805:L4931I;ENSP00000400883:L2843I;ENSP00000393645:L4605I;ENSP00000359824:L2843I;ENSP00000354508:L4929I	ENSP00000244364:L2517I	L	-	1	0	DST	56526131	1.000000	0.71417	0.956000	0.39512	0.921000	0.55340	5.459000	0.66685	2.802000	0.96397	0.655000	0.94253	CTT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	37	0	G	NM_001723		56418172	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.999	T	T	56418172	G	T	56418172	3	4	71	1	0	0	0	0	1	0	0	0	4797	971	34	3	8138	3	DST	6	56418172	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	24393494	56418172	114696895	67	19198											
SNAP91	9892	genome.wustl.edu	37	chr6	84269886	84269886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggctgtgcaaacatgacCggctgctgaggcatcatggg	9	8	15	9	1	1	2	1	2	0	0	1	2	1	2	1	4	3	5	1	4	1	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:84269886C>T	ENST00000439399.2	-	28	2884	c.2568G>A	c.(2566-2568)ccG>ccA	p.P856P	SNAP91_ENST00000428679.2_Silent_p.P856P|SNAP91_ENST00000437520.1_Silent_p.P549P|SNAP91_ENST00000520302.1_Silent_p.P826P|SNAP91_ENST00000521743.1_Silent_p.P856P|SNAP91_ENST00000369694.2_Silent_p.P856P|SNAP91_ENST00000521485.1_Silent_p.P851P|SNAP91_ENST00000520213.1_Silent_p.P549P|SNAP91_ENST00000195649.6_Silent_p.P851P	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	856	Pro-rich.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CAAACATGACCGGCTGCTGAG	0.547																																																	0													69	70	70					6																	84269886		1977	4159	6136	SO:0001819	synonymous_variant	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2568G>A	6.37:g.84269886C>T			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.P856	ENST00000439399.2	37	c.2568	CCDS47455.1	6																																																																																			SNAP91	-	NULL	ENSG00000065609		0.547	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	-	0	46	0	C			84269886	-1	tier1	-	no_errors	ENST00000369694	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.003	T	T	84269886	C	T	84269886	2	4	71	1	0	0	0	0	0	0	0	1	14878	639	23	1		1	SNAP91	6	84269886	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	27851714	84269886	86845181	68	19199											
FUT9	10690	genome.wustl.edu	37	chr6	96651510	96651510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactctgacttaccgccGtgattcagatatccaagtgc	9	11	8	13	2	2	4	1	3	1	1	3	4	3	4	4	0	2	0	4	0	3	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:96651510G>A	ENST00000302103.5	+	3	805	c.479G>A	c.(478-480)cGt>cAt	p.R160H		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	160					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACTTACCGCCGTGATTCAGAT	0.458																																					Melanoma(98;1369 1476 6592 22940 26587)												0													67	64	65					6																	96651510		2203	4300	6503	SO:0001583	missense	0			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"Fucosyltransferases"	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.479G>A	6.37:g.96651510G>A	ENSP00000302599:p.Arg160His		Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R160H	ENST00000302103.5	37	c.479	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426108	0.43020	.	.	ENSG00000172461	ENST00000302103	T	0.28666	1.6	5.3	5.3	0.74995	.	0.113468	0.64402	D	0.000007	T	0.28499	0.0705	M	0.61703	1.905	0.47407	D	0.999412	P	0.38565	0.637	B	0.43680	0.427	T	0.02226	-1.1192	10	0.28530	T	0.3	-11.0544	18.3049	0.90177	0.0:0.0:1.0:0.0	.	160	Q9Y231	FUT9_HUMAN	H	160	ENSP00000302599:R160H	ENSP00000302599:R160H	R	+	2	0	FUT9	96758231	1.000000	0.71417	0.973000	0.42090	0.739000	0.42172	4.810000	0.62598	2.643000	0.89663	0.655000	0.94253	CGT	FUT9	-	pfam_Glyco_trans_10	ENSG00000172461		0.458	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	-	0	48	0	G	NM_006581		96651510	1	tier1	-	no_errors	ENST00000302103	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.950	A	A	96651510	G	A	96651510	3	1	71	1	0	0	0	0	1	0	0	0	6135	1145	40	1	481	1	FUT9	6	96651510	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	12381624	96651510	74463557	69	19200											
CLVS2	134829	genome.wustl.edu	37	chr6	123319130	123319130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcactttgaggccttcCgcctcctggcgcagtacttt	5	14	8	14	2	2	1	2	1	0	0	4	1	4	1	4	2	1	2	4	2	1	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:123319130C>T	ENST00000275162.5	+	2	1543	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	70					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGAGGCCTTCCGCCTCCTGGC	0.542																																																	0													161	137	145					6																	123319130		2203	4300	6503	SO:0001583	missense	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.208C>T	6.37:g.123319130C>T	ENSP00000275162:p.Arg70Cys		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R70C	ENST00000275162.5	37	c.208	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578860	0.86645	.	.	ENSG00000146352	ENST00000275162	D	0.85861	-2.04	5.39	5.39	0.77823	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.89300	0.3625	10	0.66056	D	0.02	-3.5264	19.3486	0.94374	0.0:1.0:0.0:0.0	.	70	Q5SYC1	CLVS2_HUMAN	C	70	ENSP00000275162:R70C	ENSP00000275162:R70C	R	+	1	0	CLVS2	123360829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.109000	0.50345	2.814000	0.96858	0.585000	0.79938	CGC	CLVS2	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran	ENSG00000146352		0.542	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	-	0	43	0	C	NM_001010852		123319130	1	tier1	-	no_errors	ENST00000275162	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	T	T	123319130	C	T	123319130	3	4	71	1	0	0	0	0	1	0	0	0	3579	652	23	1	210	1	CLVS2	6	123319130	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	26667620	123319130	47795937	70	19201											
MAP7	9053	genome.wustl.edu	37	chr6	136667017	136667017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtctgctgtgtctgaacaCcatctacctgaggcaggggc	8	9	12	12	0	3	2	0	2	3	0	3	2	3	2	2	3	3	2	2	3	2	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:136667017C>A	ENST00000354570.3	-	17	2626	c.2216G>T	c.(2215-2217)gGt>gTt	p.G739V	MAP7_ENST00000454590.1_Missense_Mutation_p.G761V|MAP7_ENST00000438100.2_Missense_Mutation_p.G724V|MAP7_ENST00000432797.2_Missense_Mutation_p.G593V|MAP7_ENST00000544465.1_Missense_Mutation_p.G724V	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	739					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G739V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTCTGAACACCATCTACCTG	0.488																																																	1	Substitution - Missense(1)	lung(1)											79	71	74					6																	136667017		2203	4300	6503	SO:0001583	missense	0			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2216G>T	6.37:g.136667017C>A	ENSP00000346581:p.Gly739Val		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	pfam_MAP7	p.G761V	ENST00000354570.3	37	c.2282	CCDS5178.1	6	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699243	0.68501	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.14640	2.51;2.5;2.5;2.49;2.51	6.05	6.05	0.98169	.	0.105775	0.42053	D	0.000763	T	0.22742	0.0549	L	0.51422	1.61	0.45791	D	0.998672	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.999;0.993;1.0	P;P;D;D;D;P;D	0.77004	0.895;0.895;0.989;0.975;0.951;0.886;0.975	T	0.00200	-1.1927	10	0.87932	D	0	-14.5191	13.1952	0.59734	0.0:0.8874:0.0:0.1126	.	724;761;724;761;645;702;739	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	V	739;761;724;724;593;645	ENSP00000346581:G739V;ENSP00000414712:G761V;ENSP00000445737:G724V;ENSP00000400790:G724V;ENSP00000414879:G593V	ENSP00000344217:G645V	G	-	2	0	MAP7	136708710	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.764000	0.38471	2.880000	0.98712	0.655000	0.94253	GGT	MAP7	-	NULL	ENSG00000135525		0.488	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	-	0	76	0	C	NM_003980		136667017	-1	tier1	-	no_errors	ENST00000454590	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	136667017	C	A	136667017	3	1	71	1	0	0	0	0	1	0	0	0	9304	507	18	3	41	3	MAP7	6	136667017	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	13347887	136667017	34448050	71	19202											
FNDC1	84624	genome.wustl.edu	37	chr6	159621085	159621085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacagtggagtgagccGtcctgtttacagagctgaaa	13	8	11	9	1	0	3	0	2	0	1	1	4	1	4	3	1	4	2	3	1	3	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr6:159621085G>A	ENST00000297267.9	+	3	562	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R121H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	121	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGAGTGAGCCGTCCTGTTTAC	0.478																																																	0													86	86	86					6																	159621085		1947	4140	6087	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.362G>A	6.37:g.159621085G>A	ENSP00000297267:p.Arg121His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R121H	ENST00000297267.9	37	c.362	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918618	0.73098	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.57436	0.4;0.4	5.95	5.95	0.96441	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.085770	0.50627	D	0.000113	T	0.48132	0.1483	N	0.14661	0.345	0.32908	D	0.51417	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57260	-0.7842	10	0.62326	D	0.03	-13.9375	15.8813	0.79207	0.0:0.0:1.0:0.0	.	121;121	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	121	ENSP00000297267:R121H;ENSP00000342460:R121H	ENSP00000297267:R121H	R	+	2	0	FNDC1	159541073	1.000000	0.71417	0.990000	0.47175	0.979000	0.70002	2.445000	0.44899	2.821000	0.97095	0.650000	0.86243	CGT	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164694		0.478	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0	100	0	G	NM_032532		159621085	1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	18.75	78	18	SNP	0.986	A	A	159621085	G	A	159621085	3	1	71	1	0	0	0	0	1	0	0	0	5990	1145	40	1	372	1	FNDC1	6	159621085	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	22954068	159621085	11493982	72	19203											
POM121L12	285877	genome.wustl.edu	37	chr7	53103932	53103932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagtgccccaagggaagcGctaggttcgacgggccgttg	7	6	16	12	4	0	0	0	0	0	0	1	2	0	1	4	3	2	3	4	3	3	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:53103932G>T	ENST00000408890.4	+	1	584	c.568G>T	c.(568-570)Gct>Tct	p.A190S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	190										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAAGGGAAGCGCTAGGTTCGA	0.701																																																	0													44	50	48					7																	53103932		1948	4134	6082	SO:0001583	missense	0				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.568G>T	7.37:g.53103932G>T	ENSP00000386133:p.Ala190Ser		Q8NDI9	Missense_Mutation	SNP	NULL	p.A190S	ENST00000408890.4	37	c.568	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	G	5.460	0.269977	0.10349	.	.	ENSG00000221900	ENST00000408890	T	0.11277	2.79	2.21	-2.51	0.06365	.	.	.	.	.	T	0.04182	0.0116	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42481	-0.9449	9	0.27785	T	0.31	.	0.3179	0.00298	0.4028:0.2275:0.1479:0.2219	.	190	Q8N7R1	P1L12_HUMAN	S	190	ENSP00000386133:A190S	ENSP00000386133:A190S	A	+	1	0	POM121L12	53071426	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.545000	0.06069	-0.454000	0.07066	-2.825000	0.00108	GCT	POM121L12	-	NULL	ENSG00000221900		0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1		0	54	0	G	NM_182595		53103932	1			no_errors	ENST00000408890	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	T	T	53103932	G	T	53103932	3	4	71	1	0	0	0	0	1	0	0	0	12280	1087	38	2	570	2	POM121L12	7	53103932	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09		53103932	106034731	73	19204											
SEMA3A	10371	genome.wustl.edu	37	chr7	83634710	83634710	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgcatccactcggtctacGacaatttgtgtaaattgata	11	14	7	9	2	2	1	0	1	2	0	4	2	3	1	1	1	2	2	1	1	5	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:83634710G>C	ENST00000265362.4	-	11	1619	c.1305C>G	c.(1303-1305)gtC>gtG	p.V435V	SEMA3A_ENST00000436949.1_Silent_p.V435V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	435	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		V -> I (in HH16; phenotype consistent with Kallmann syndrome; digenic; found in patients also carrying mutation Cys-268 in PROKR2 or mutation Arg-687 in FGFR1; dbSNP:rs147436181). {ECO:0000269|PubMed:22927827}.		apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCGGTCTACGACAATTTGTG	0.363																																																	0													197	176	183					7																	83634710		2203	4300	6503	SO:0001819	synonymous_variant	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1305C>G	7.37:g.83634710G>C				Silent	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.V435	ENST00000265362.4	37	c.1305	CCDS5599.1	7																																																																																			SEMA3A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000075213		0.363	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	-	0	85	0	G	NM_006080		83634710	-1	tier1	-	no_errors	ENST00000265362	ensembl	human	known	74_37	silent	33.06	81	40	SNP	0.982	C	C	83634710	G	C	83634710	2	2	71	1	0	0	0	0	0	0	0	1	14069	1045	37	5		5	SEMA3A	7	83634710	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	30530778	83634710	75503953	74	19205											
ZNF804B	219578	genome.wustl.edu	37	chr7	88963404	88963404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatgcttccttcagcccaCcaaacatttacaaccatagt	14	10	3	14	0	1	0	1	0	0	0	2	0	2	0	4	0	5	1	4	0	5	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:88963404C>A	ENST00000333190.4	+	4	1717	c.1108C>A	c.(1108-1110)Cca>Aca	p.P370T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	370							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTCAGCCCACCAAACATTTA	0.403										HNSCC(36;0.09)																																							0													43	49	47					7																	88963404		2202	4300	6502	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1108C>A	7.37:g.88963404C>A	ENSP00000329638:p.Pro370Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.P370T	ENST00000333190.4	37	c.1108	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	4.469	0.086899	0.08583	.	.	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.19	2.33	0.28932	.	0.629618	0.14931	N	0.290077	T	0.03651	0.0104	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.47289	-0.9129	10	0.13108	T	0.6	0.0968	2.1543	0.03808	0.242:0.3826:0.236:0.1393	.	370	A4D1E1	Z804B_HUMAN	T	370	ENSP00000329638:P370T	ENSP00000329638:P370T	P	+	1	0	ZNF804B	88801340	0.000000	0.05858	0.794000	0.32065	0.994000	0.84299	-0.014000	0.12656	0.326000	0.23384	0.655000	0.94253	CCA	ZNF804B	-	NULL	ENSG00000182348		0.403	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	41	0	C	NM_181646		88963404	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	8.57	64	6	SNP	0.002	A	A	88963404	C	A	88963404	3	1	71	1	0	0	0	0	1	0	0	0	18219	507	18	3	1122	3	ZNF804B	7	88963404	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	5328694	88963404	70175259	75	19206											
AKAP9	10142	genome.wustl.edu	37	chr7	91714250	91714250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattcctttccaaagaaaaTaaaggtactaaaagatagat	20	10	6	5	0	0	4	0	0	0	4	2	4	2	4	2	1	1	1	2	1	9	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:91714250T>A	ENST00000359028.2	+	35	9065	c.8840T>A	c.(8839-8841)aTa>aAa	p.I2947K	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Missense_Mutation_p.I2943K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2947					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCAAAGAAAATAAAGGTACTA	0.373			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													79	81	80					7																	91714250		2203	4300	6503	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8840T>A	7.37:g.91714250T>A	ENSP00000351922:p.Ile2947Lys		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.I2947K	ENST00000359028.2	37	c.8840		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.07|18.07	3.541249|3.541249	0.65085|0.65085	.|.	.|.	ENSG00000127914|ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000413120;ENST00000394534|ENST00000435423	T;T;T|.	0.05580|.	3.51;3.5;3.42|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.45606|.	D|.	0.000357|.	T|.	0.75481|.	0.3855|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.999;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.999;0.999;0.998;0.999;0.999|.	T|.	0.77043|.	-0.2734|.	10|.	0.87932|.	D|.	0|.	.|.	15.2647|15.2647	0.73651|0.73651	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2947;2947;2947;2943;2935|.	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3|.	.;.;AKAP9_HUMAN;.;.|.	K|K	2943;2947;2947;789|88	ENSP00000348573:I2943K;ENSP00000351922:I2947K;ENSP00000378042:I789K|.	ENSP00000348573:I2943K|.	I|X	+|+	2|1	0|0	AKAP9|AKAP9	91552186|91552186	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.209000|5.209000	0.65208|0.65208	2.077000|2.077000	0.62373|0.62373	0.533000|0.533000	0.62120|0.62120	ATA|TAA	AKAP9	-	NULL	ENSG00000127914		0.373	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	29	0	T	NM_005751		91714250	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	36.89	65	38	SNP	1.000	A	A	91714250	T	A	91714250	3	1	71	1	0	0	0	0	1	0	0	0	459	1406	49	5	8966	5	AKAP9	7	91714250	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	2750846	91714250	67424413	76	19207											
PEX1	5189	genome.wustl.edu	37	chr7	92135590	92135590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttacagtcaactctctcCacatgggcatccagtttgtc	8	13	7	13	0	2	0	1	0	1	0	6	0	4	0	2	1	2	3	2	1	2	3	rs376600394		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:92135590C>T	ENST00000248633.4	-	11	1967	c.1872G>A	c.(1870-1872)gtG>gtA	p.V624V	PEX1_ENST00000438045.1_Silent_p.V302V|PEX1_ENST00000428214.1_Silent_p.V624V|PEX1_ENST00000541751.1_Silent_p.V41V	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	624					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAACTCTCTCCACATGGGCAT	0.353																																																	0								C		0,4406		0,0,2203	171	160	164		1872	5.2	1	7		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PEX1	NM_000466.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		624/1284	92135590	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"ATPases / AAA-type"	8850	protein-coding gene	gene with protein product		602136	"peroxisome biogenesis factor 1", "Zellweger syndrome 1", "Zellweger syndrome"	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1872G>A	7.37:g.92135590C>T			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.V624	ENST00000248633.4	37	c.1872	CCDS5627.1	7																																																																																			PEX1	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000127980		0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3		0	62	0	C	NM_000466		92135590	-1			no_errors	ENST00000248633	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	T	T	92135590	C	T	92135590	2	4	71	1	0	0	0	0	0	0	0	1	11774	581	21	3		3	PEX1	7	92135590	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	421340	92135590	67003073	77	19208											
HBP1	26959	genome.wustl.edu	37	chr7	106822898	106822898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcagatgtttcacatCaagaatacccaagatcatct	14	12	6	9	0	5	4	4	1	1	3	5	4	5	4	1	0	1	2	1	0	4	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:106822898C>A	ENST00000222574.4	+	3	436	c.250C>A	c.(250-252)Caa>Aaa	p.Q84K	HBP1_ENST00000468410.1_Missense_Mutation_p.Q84K|HBP1_ENST00000485846.1_Missense_Mutation_p.Q84K	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	84					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGTTTCACATCAAGAATACCC	0.418																																																	0													104	91	96					7																	106822898		2203	4300	6503	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.250C>A	7.37:g.106822898C>A	ENSP00000222574:p.Gln84Lys		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.Q84K	ENST00000222574.4	37	c.250	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504258	0.85176	.	.	ENSG00000105856	ENST00000468410;ENST00000464009;ENST00000222574;ENST00000497535;ENST00000485846;ENST00000479011;ENST00000498408	D;D;D	0.99239	-5.61;-5.61;-5.61	5.86	5.86	0.93980	.	0.093760	0.85682	D	0.000000	D	0.98356	0.9454	L	0.27053	0.805	0.80722	D	1	P;P;P	0.52316	0.462;0.952;0.919	B;P;P	0.50860	0.173;0.652;0.45	D	0.99712	1.1007	10	0.72032	D	0.01	-7.4954	20.1865	0.98220	0.0:1.0:0.0:0.0	.	94;84;84	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	K	84;84;84;84;84;84;76	ENSP00000420500:Q84K;ENSP00000222574:Q84K;ENSP00000418738:Q84K	ENSP00000222574:Q84K	Q	+	1	0	HBP1	106610134	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.464000	0.66719	2.775000	0.95449	0.655000	0.94253	CAA	HBP1	-	NULL	ENSG00000105856		0.418	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0	86	0	C	NM_012257		106822898	1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	35.00	39	21	SNP	1.000	A	A	106822898	C	A	106822898	3	1	71	1	0	0	0	0	1	0	0	0	7012	827	29	3	256	3	HBP1	7	106822898	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	14687308	106822898	52315765	78	19209											
LAMB1	3912	genome.wustl.edu	37	chr7	107570010	107570010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtgctaggcatctccAttttcaatacttcattagca	9	14	9	9	0	3	0	2	0	1	0	4	0	3	0	1	3	3	3	1	3	4	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:107570010A>G	ENST00000222399.6	-	30	4822	c.4592T>C	c.(4591-4593)aTg>aCg	p.M1531T	LAMB1_ENST00000393561.1_Missense_Mutation_p.M1555T|LAMB1_ENST00000474380.1_5'UTR	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1531	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGGCATCTCCATTTTCAATAC	0.403																																																	0													147	125	133					7																	107570010		2203	4300	6503	SO:0001583	missense	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4592T>C	7.37:g.107570010A>G	ENSP00000222399:p.Met1531Thr		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.M1531T	ENST00000222399.6	37	c.4592	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	A	20.5	3.998696	0.74818	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.31247	1.5;1.5	5.52	5.52	0.82312	.	.	.	.	.	T	0.42381	0.1200	L	0.56769	1.78	0.80722	D	1	P;D	0.57899	0.761;0.981	B;P	0.51777	0.247;0.679	T	0.18555	-1.0333	9	0.36615	T	0.2	.	15.8169	0.78608	1.0:0.0:0.0:0.0	.	1531;1555	P07942;G3XAI2	LAMB1_HUMAN;.	T	1555;1531	ENSP00000377191:M1555T;ENSP00000222399:M1531T	ENSP00000222399:M1531T	M	-	2	0	LAMB1	107357246	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.757000	0.91657	2.311000	0.77944	0.528000	0.53228	ATG	LAMB1	-	NULL	ENSG00000091136		0.403	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	-	0	34	0	A	NM_002291		107570010	-1	tier1	-	no_errors	ENST00000222399	ensembl	human	known	74_37	missense	45.45	18	15	SNP	1.000	G	G	107570010	A	G	107570010	3	3	71	1	0	0	0	0	1	0	0	0	8638	217	8	4	788	4	LAMB1	7	107570010	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	747112	107570010	51568653	79	19210											
IQUB	154865	genome.wustl.edu	37	chr7	123150076	123150076	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcctggcccactggaatAagtacaacttttactgtaaa	13	13	6	9	0	0	0	0	0	0	0	1	1	1	1	2	2	3	2	2	2	7	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:123150076A>G	ENST00000466202.1	-	3	987	c.411T>C	c.(409-411)ctT>ctC	p.L137L	IQUB_ENST00000324698.6_Silent_p.L137L|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Silent_p.L137L	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	137	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CCACTGGAATAAGTACAACTT	0.313																																																	0													81	94	90					7																	123150076		2202	4289	6491	SO:0001819	synonymous_variant	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.411T>C	7.37:g.123150076A>G			A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.L137	ENST00000466202.1	37	c.411	CCDS5787.1	7																																																																																			IQUB	-	pfscan_Ubiquitin_supergroup	ENSG00000164675		0.313	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1	-	0	149	0	A	NM_178827		123150076	-1	tier1	-	no_errors	ENST00000324698	ensembl	human	known	74_37	silent	31.25	88	40	SNP	0.993	G	G	123150076	A	G	123150076	2	3	71	1	0	0	0	0	0	0	0	1	7847	349	13	4		4	IQUB	7	123150076	Silent	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	15580066	123150076	35988587	80	19211											
CPA4	51200	genome.wustl.edu	37	chr7	129946698	129946698	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatattttcttgttgccTgtggccaatcctgatggata	8	16	10	7	0	1	1	0	1	1	0	2	3	2	3	3	3	1	1	3	3	3	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr7:129946698T>A	ENST00000222482.4	+	7	691	c.663T>A	c.(661-663)ccT>ccA	p.P221P	CPA4_ENST00000493259.1_Silent_p.P117P|CPA4_ENST00000445470.2_Silent_p.P188P	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	221					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TCTTGTTGCCTGTGGCCAATC	0.423																																																	0													139	117	125					7																	129946698		2203	4300	6503	SO:0001819	synonymous_variant	0			AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"carboxypeptidase A3"	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.663T>A	7.37:g.129946698T>A			B7Z576|Q86UY9	Silent	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.P221	ENST00000222482.4	37	c.663	CCDS5818.1	7																																																																																			CPA4	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000128510		0.423	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA4	HGNC	protein_coding	OTTHUMT00000349725.1	-	0	48	0	T	NM_016352		129946698	1	tier1	-	no_errors	ENST00000222482	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.998	A	A	129946698	T	A	129946698	2	1	71	1	0	0	0	0	0	0	0	1	3799	1567	55	5		5	CPA4	7	129946698	Silent	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	6796622	129946698	29191965	81	19212											
SGCZ	137868	genome.wustl.edu	37	chr8	14412433	14412433	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtatgtattgttctcgtgtCatctgaaaaagaaaaaagaa	17	12	8	4	1	3	3	1	1	2	2	4	3	3	3	0	0	0	3	0	0	8	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:14412433C>G	ENST00000382080.1	-	2	757	c.42G>C	c.(40-42)atG>atC	p.M14I	SGCZ_ENST00000421524.2_Start_Codon_SNP_p.M1I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	1					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTTCTCGTGTCATCTGaaaaa	0.343																																																	0													167	161	163					8																	14412433		2203	4300	6503	SO:0001583	missense	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.42G>C	8.37:g.14412433C>G	ENSP00000371512:p.Met14Ile		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.M14I	ENST00000382080.1	37	c.42	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	C	13.89	2.373141	0.42105	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;T	0.86865	-2.18;1.49	4.99	4.99	0.66335	.	0.114616	0.85682	D	0.000000	D	0.84683	0.5526	.	.	.	0.80722	D	1	B;B	0.17038	0.012;0.02	B;B	0.12156	0.004;0.007	T	0.81609	-0.0855	9	0.72032	D	0.01	.	18.1557	0.89690	0.0:1.0:0.0:0.0	.	1;14	Q08AT0;Q96LD1-2	.;.	I	14;1	ENSP00000371512:M14I;ENSP00000405224:M1I	ENSP00000371512:M14I	M	-	3	0	SGCZ	14456804	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.569000	0.60865	2.708000	0.92522	0.650000	0.86243	ATG	SGCZ	-	NULL	ENSG00000185053		0.343	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	-	0	64	0	C	NM_139167		14412433	-1	tier1	-	no_errors	ENST00000382080	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	G	G	14412433	C	G	14412433	3	3	71	1	0	0	0	0	1	0	0	0	14249	826	29	5	924	5	SGCZ	8	14412433	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09		14412433	131951589	82	19213											
MYST3	7994	genome.wustl.edu	37	chr8	41836223	41836223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattagtatagcgccgttttAtctgtgctgccttcttttgt	5	19	9	8	2	2	0	0	0	2	0	2	1	2	0	2	0	3	3	2	0	4	8			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:41836223A>G	ENST00000396930.3	-	7	1523	c.980T>C	c.(979-981)aTa>aCa	p.I327T	KAT6A_ENST00000485568.1_Missense_Mutation_p.I327T|KAT6A_ENST00000406337.1_Missense_Mutation_p.I327T|KAT6A_ENST00000265713.2_Missense_Mutation_p.I327T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	327	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GCGCCGTTTTATCTGTGCTGC	0.378																																																	0													307	297	300					8																	41836223		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.980T>C	8.37:g.41836223A>G	ENSP00000380136:p.Ile327Thr		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I327T	ENST00000396930.3	37	c.980	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557046	0.45590	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84873	0.1;0.1;0.1;-1.91	5.47	5.47	0.80525	.	0.131736	0.52532	D	0.000078	D	0.88768	0.6526	L	0.38175	1.15	0.49582	D	0.999805	P;D	0.76494	0.911;0.999	P;D	0.78314	0.5;0.991	D	0.89917	0.4056	10	0.66056	D	0.02	-9.2762	15.6307	0.76906	1.0:0.0:0.0:0.0	.	327;327	A5PLL3;Q92794	.;KAT6A_HUMAN	T	327	ENSP00000265713:I327T;ENSP00000385888:I327T;ENSP00000380136:I327T;ENSP00000430606:I327T	ENSP00000265713:I327T	I	-	2	0	KAT6A	41955380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	2.081000	0.62600	0.524000	0.50904	ATA	KAT6A	-	superfamily_Znf_FYVE_PHD	ENSG00000083168		0.378	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0	71	0	A	NM_006766		41836223	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	19.83	92	23	SNP	1.000	G	G	41836223	A	G	41836223	3	3	71	1	0	0	0	0	1	0	0	0	10142	449	16	4	5082	4	MYST3	8	41836223	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	27423790	41836223	104527799	83	19214											
SLC20A2	6575	genome.wustl.edu	37	chr8	42329774	42329774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagctaaaatgcatgcctgCctcaaggtcaccacaccaga	14	6	8	13	0	2	1	2	0	0	1	2	2	2	1	4	1	4	2	4	1	4	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:42329774C>T	ENST00000342228.3	-	2	504	c.135G>A	c.(133-135)agG>agA	p.R45R	SLC20A2_ENST00000520262.1_Silent_p.R45R|SLC20A2_ENST00000520179.1_Silent_p.R45R	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	45					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGCATGCCTGCCTCAAGGTCA	0.483																																																	0													188	170	176					8																	42329774		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"Solute carriers"	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.135G>A	8.37:g.42329774C>T				Silent	SNP	pfam_Phos_transporter	p.R45	ENST00000342228.3	37	c.135	CCDS6132.1	8																																																																																			SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.483	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1		0	59	0	C			42329774	-1			no_errors	ENST00000342228	ensembl	human	known	74_37	silent	5.06	73	4	SNP	1.000	T	T	42329774	C	T	42329774	2	4	71	1	0	0	0	0	0	0	0	1	14484	738	26	3		3	SLC20A2	8	42329774	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	493551	42329774	104034248	84	19215											
SGK3	23678	genome.wustl.edu	37	chr8	67716673	67716673	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaatatttggtgataatTttgatccaggtaagaaacaa	17	12	9	3	0	0	4	0	2	0	2	1	5	1	4	1	2	1	1	1	2	6	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:67716673T>A	ENST00000396596.1	+	4	458	c.244T>A	c.(244-246)Ttt>Att	p.F82I	SGK3_ENST00000345714.4_Missense_Mutation_p.F82I|SGK3_ENST00000520976.1_Missense_Mutation_p.F82I|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.F82I|SGK3_ENST00000522398.1_Missense_Mutation_p.F82I|SGK3_ENST00000521198.2_Missense_Mutation_p.F82I	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	82	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTGATAATTTTGATCCAGG	0.313																																																	0													72	77	75					8																	67716673		2203	4300	6503	SO:0001583	missense	0				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"serum/glucocorticoid regulated kinase-like"	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.244T>A	8.37:g.67716673T>A	ENSP00000379842:p.Phe82Ile		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom	p.F82I	ENST00000396596.1	37	c.244	CCDS6195.1	8	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019798	0.93462	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000521960;ENST00000522398;ENST00000522629;ENST00000520976;ENST00000396596;ENST00000518388;ENST00000345714;ENST00000521152	T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.39	5.39	0.77823	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.63058	0.2479	M	0.84683	2.71	0.45342	D	0.998331	P;D	0.54964	0.936;0.969	P;P	0.56563	0.758;0.801	T	0.75016	-0.3466	9	0.62326	D	0.03	.	14.686	0.69049	0.0:0.0:0.0:1.0	.	82;82	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	I	82;82;82;15;82;82;82;82;82;82;15	ENSP00000429022:F82I;ENSP00000430463:F82I;ENSP00000430475:F15I;ENSP00000430256:F82I;ENSP00000429606:F82I;ENSP00000430691:F82I;ENSP00000379842:F82I;ENSP00000428972:F82I;ENSP00000331816:F82I;ENSP00000429565:F15I	ENSP00000262211:F82I	F	+	1	0	SGK3	67879227	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.185000	0.77714	2.176000	0.68965	0.533000	0.62120	TTT	SGK3	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000104205		0.313	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	-	0	202	0	T			67716673	1	tier1	-	no_errors	ENST00000345714	ensembl	human	known	74_37	missense	21.76	169	47	SNP	1.000	A	A	67716673	T	A	67716673	3	1	71	1	0	0	0	0	1	0	0	0	14257	1841	64	5	254	5	SGK3	8	67716673	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	25386899	67716673	78647349	85	19216											
PKIA	5569	genome.wustl.edu	37	chr8	79514046	79514046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagaagcagcaaaatCtgaaagctaacaccccactt	16	5	8	12	0	1	2	0	1	1	1	1	3	1	2	3	1	4	3	3	1	5	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:79514046C>A	ENST00000396418.2	+	4	707	c.221C>A	c.(220-222)tCt>tAt	p.S74Y	PKIA_ENST00000518467.1_Missense_Mutation_p.S74Y|PKIA_ENST00000352966.5_Missense_Mutation_p.S74Y	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	74					negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP-dependent protein kinase inhibitor activity (GO:0004862)|protein kinase A catalytic subunit binding (GO:0034236)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						GCAGCAAAATCTGAAAGCTAA	0.433																																																	0													130	114	119					8																	79514046		2203	4300	6503	SO:0001583	missense	0			S76965	CCDS6222.1	8q21.13	2014-08-12			ENSG00000171033	ENSG00000171033			9017	protein-coding gene	gene with protein product		606059		PRKACN1		1770951	Standard	NM_006823		Approved		uc003ybb.3	P61925	OTTHUMG00000164618	ENST00000396418.2:c.221C>A	8.37:g.79514046C>A	ENSP00000379696:p.Ser74Tyr		P04541|Q6IAV2	Missense_Mutation	SNP	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.S74Y	ENST00000396418.2	37	c.221	CCDS6222.1	8	.	.	.	.	.	.	.	.	.	.	C	8.402	0.842197	0.16963	.	.	ENSG00000171033	ENST00000396418;ENST00000352966;ENST00000518467	.	.	.	5.38	3.4	0.38934	.	0.507764	0.18424	N	0.141641	T	0.26085	0.0636	.	.	.	0.27798	N	0.942586	B	0.09022	0.002	B	0.16722	0.016	T	0.14448	-1.0472	7	.	.	.	.	8.3154	0.32097	0.2313:0.6786:0.0:0.0901	.	74	P61925	IPKA_HUMAN	Y	74	.	.	S	+	2	0	PKIA	79676601	0.996000	0.38824	0.995000	0.50966	0.996000	0.88848	2.961000	0.49168	1.273000	0.44346	0.655000	0.94253	TCT	PKIA	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	ENSG00000171033		0.433	PKIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIA	HGNC	protein_coding	OTTHUMT00000379420.1	-	0	100	0	C			79514046	1	tier1	-	no_errors	ENST00000352966	ensembl	human	known	74_37	missense	20.48	66	17	SNP	0.996	A	A	79514046	C	A	79514046	3	1	71	1	0	0	0	0	1	0	0	0	12012	913	32	3	227	3	PKIA	8	79514046	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	11797373	79514046	66849976	86	19217											
POP1	10940	genome.wustl.edu	37	chr8	99139843	99139843	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcatcctggaacttcaCgacagcggcaaaccagagtc	12	6	9	14	2	2	1	2	0	0	1	4	3	3	2	3	2	4	1	3	2	2	1	rs370453487	byFrequency	TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:99139843C>T	ENST00000401707.2	+	3	244	c.163C>T	c.(163-165)Cga>Tga	p.R55*	POP1_ENST00000349693.3_Nonsense_Mutation_p.R55*	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	55					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGGAACTTCACGACAGCGGCA	0.428													C|||	2	0.000399361	0	0	5008	,	,		20045	0		0	False		,,,				2504	0.002																0								C	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	107	101	103		163,163,163	0.6	0.3	8		103	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	55/1025,55/1025,55/1025	99139843	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.163C>T	8.37:g.99139843C>T	ENSP00000385787:p.Arg55*		A8K5W9|Q15037	Nonsense_Mutation	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.R55*	ENST00000401707.2	37	c.163	CCDS6277.1	8	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988089	0.74589	0.0	1.16E-4	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	.	.	.	5.93	0.632	0.17705	.	0.682203	0.12690	N	0.447221	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.2685	5.0756	0.14630	0.4842:0.3265:0.1193:0.07	.	.	.	.	X	55	.	ENSP00000339529:R55X	R	+	1	2	POP1	99209019	0.017000	0.18338	0.335000	0.25508	0.701000	0.40568	0.065000	0.14466	-0.171000	0.10797	-0.282000	0.10007	CGA	POP1	-	NULL	ENSG00000104356		0.428	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	HGNC	protein_coding	OTTHUMT00000379470.1		0	101	0	C	NM_015029		99139843	1			no_errors	ENST00000349693	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.035	T	T	99139843	C	T	99139843	4	4	71	1	0	0	0	0	0	1	0	0	12290	528	19	1	169	1	POP1	8	99139843	Nonsense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	19625797	99139843	47224179	87	19218											
FAM91A1	157769	genome.wustl.edu	37	chr8	124790951	124790951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccaataaagccagtggAaattgccatagaggcgtggt	13	9	11	8	1	1	1	0	0	1	1	1	2	1	2	3	3	3	0	3	3	6	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:124790951A>G	ENST00000334705.7	+	6	734	c.488A>G	c.(487-489)gAa>gGa	p.E163G	FAM91A1_ENST00000521166.1_Missense_Mutation_p.E163G	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	163										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAGCCAGTGGAAATTGCCATA	0.373																																																	0													50	47	48					8																	124790951		1831	4082	5913	SO:0001583	missense	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.488A>G	8.37:g.124790951A>G	ENSP00000335082:p.Glu163Gly		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.E163G	ENST00000334705.7	37	c.488	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	A	16.62	3.172931	0.57584	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.47177	0.85;1.43	5.63	5.63	0.86233	.	0.061395	0.64402	U	0.000007	T	0.61862	0.2381	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.58216	-0.7675	10	0.32370	T	0.25	.	14.719	0.69291	1.0:0.0:0.0:0.0	.	163;163	E7ER68;Q658Y4	.;F91A1_HUMAN	G	163	ENSP00000429491:E163G;ENSP00000335082:E163G	ENSP00000335082:E163G	E	+	2	0	FAM91A1	124860132	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.304000	0.78882	2.281000	0.76405	0.533000	0.62120	GAA	FAM91A1	-	NULL	ENSG00000176853		0.373	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	-	0	91	0	A	NM_144963		124790951	1	tier1	-	no_errors	ENST00000334705	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	G	G	124790951	A	G	124790951	3	3	71	1	0	0	0	0	1	0	0	0	5673	246	9	4	510	4	FAM91A1	8	124790951	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	25651108	124790951	21573071	88	19219											
FAM135B	51059	genome.wustl.edu	37	chr8	139180219	139180219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgatgtccaggcactctgCaggcagcgggggcatgctag	7	7	16	11	2	1	0	0	0	1	0	3	1	2	0	1	4	3	5	1	4	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr8:139180219C>T	ENST00000395297.1	-	12	1347	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	393										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCACTCTGCAGGCAGCGGG	0.582										HNSCC(54;0.14)																																							0													112	119	117					8																	139180219		2091	4221	6312	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1177G>A	8.37:g.139180219C>T	ENSP00000378710:p.Ala393Thr		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.A393T	ENST00000395297.1	37	c.1177	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183208	0.78677	.	.	ENSG00000147724	ENST00000395297	D	0.89485	-2.52	5.66	5.66	0.87406	.	0.129021	0.52532	D	0.000070	D	0.90916	0.7145	M	0.67953	2.075	0.36041	D	0.840093	D	0.76494	0.999	P	0.54815	0.761	D	0.92161	0.5736	10	0.41790	T	0.15	-17.7183	12.0775	0.53652	0.0:0.9206:0.0:0.0794	.	393	Q49AJ0	F135B_HUMAN	T	393	ENSP00000378710:A393T	ENSP00000276737:A393T	A	-	1	0	FAM135B	139249401	0.998000	0.40836	0.883000	0.34634	0.519000	0.34347	4.101000	0.57769	2.824000	0.97209	0.655000	0.94253	GCA	FAM135B	-	NULL	ENSG00000147724		0.582	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	43	0	C	NM_015912		139180219	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.958	T	T	139180219	C	T	139180219	3	4	71	1	0	0	0	0	1	0	0	0	5468	710	25	3	3079	3	FAM135B	8	139180219	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	14389268	139180219	7183803	89	19220											
AK3	50808	genome.wustl.edu	37	chr9	4741041	4741041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcccttgcccgagcccGgggcccccatgatcaccgct	4	6	12	19	4	1	1	1	1	0	0	1	2	1	1	6	3	3	1	6	3	0	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:4741041G>A	ENST00000381809.3	-	1	277	c.47C>T	c.(46-48)cCg>cTg	p.P16L	AK3_ENST00000447596.4_Missense_Mutation_p.P16L|AK3_ENST00000359883.2_Intron	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	14					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	GCCCGAGCCCGGGGCCCCCAT	0.716																																																	0													18	17	17					9																	4741041		2190	4285	6475	SO:0001583	missense	0			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.47C>T	9.37:g.4741041G>A	ENSP00000371230:p.Pro16Leu		B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.P16L	ENST00000381809.3	37	c.47	CCDS6455.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.430784	0.96150	.	.	ENSG00000147853	ENST00000381809;ENST00000447596	D;D	0.90197	-2.63;-2.63	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99204	1.0874	10	0.87932	D	0	-14.8536	16.9985	0.86375	0.0:0.0:1.0:0.0	.	16;16	E7ET30;Q9UIJ7	.;KAD3_HUMAN	L	16	ENSP00000371230:P16L;ENSP00000413933:P16L	ENSP00000371230:P16L	P	-	2	0	AK3	4731041	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	7.617000	0.83032	2.323000	0.78572	0.462000	0.41574	CCG	AK3	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	ENSG00000147853		0.716	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AK3	HGNC	protein_coding	OTTHUMT00000051585.1		0	62	0	G	NM_016282		4741041	-1			no_errors	ENST00000381809	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	A	A	4741041	G	A	4741041	3	1	71	1	0	0	0	0	1	0	0	0	441	1116	39	1	656	1	AK3	9	4741041	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09		4741041	136472390	90	19221											
PSAT1	29968	genome.wustl.edu	37	chr9	80919746	80919746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcattggcttgaaagcagGaaggtgtgctgactatgtgg	9	11	14	7	0	1	2	1	2	0	0	1	3	1	3	1	4	2	3	1	4	3	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:80919746G>T	ENST00000376588.3	+	4	355	c.287G>T	c.(286-288)gGa>gTa	p.G96V	PSAT1_ENST00000347159.2_Missense_Mutation_p.G96V	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	96					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TTGAAAGCAGGAAGGTGTGCT	0.498																																					Colon(34;187 791 10662 18313 37609)												0													118	108	111					9																	80919746		2203	4300	6503	SO:0001583	missense	0			BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.287G>T	9.37:g.80919746G>T	ENSP00000365773:p.Gly96Val		Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	p.G96V	ENST00000376588.3	37	c.287	CCDS6660.1	9	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770639	0.49680	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.71579	-0.58;-0.58	5.52	2.52	0.30459	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.292824	0.37437	N	0.002100	T	0.76378	0.3979	M	0.69823	2.125	0.44275	D	0.997137	P;P	0.45044	0.799;0.849	P;P	0.47941	0.474;0.562	T	0.80656	-0.1285	10	0.56958	D	0.05	-3.5612	18.4869	0.90833	0.0:0.5858:0.4142:0.0	.	96;96	Q9Y617-2;Q9Y617	.;SERC_HUMAN	V	96	ENSP00000317606:G96V;ENSP00000365773:G96V	ENSP00000317606:G96V	G	+	2	0	PSAT1	80109566	1.000000	0.71417	0.328000	0.25416	0.904000	0.53231	2.092000	0.41700	0.673000	0.31224	0.563000	0.77884	GGA	PSAT1	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr	ENSG00000135069		0.498	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSAT1	HGNC	protein_coding	OTTHUMT00000052777.1		0	57	0	G	NM_021154		80919746	1			no_errors	ENST00000376588	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.209	T	T	80919746	G	T	80919746	3	4	71	1	0	0	0	0	1	0	0	0	12686	1174	41	3	301	3	PSAT1	9	80919746	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	76178705	80919746	60293685	91	19222											
SYK	6850	genome.wustl.edu	37	chr9	93627351	93627351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttaattttggaggccGtccacaacttccaggttccc	10	12	8	11	1	0	0	0	0	0	0	3	1	3	1	4	3	1	2	4	3	3	5	rs139520862		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:93627351G>A	ENST00000375754.4	+	6	966	c.818G>A	c.(817-819)cGt>cAt	p.R273H	SYK_ENST00000375747.1_Missense_Mutation_p.R273H|SYK_ENST00000375746.1_Missense_Mutation_p.R273H|SYK_ENST00000375751.4_Missense_Mutation_p.R273H	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	273	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGGCCGTCCACAACTT	0.443			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133	126	128		818,818,818,818	2.5	0	9	dbSNP_134	128	0,8600		0,0,4300	yes	missense,missense,missense,missense	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	273/613,273/636,273/613,273/636	93627351	1,13005	2203	4300	6503	SO:0001583	missense	0			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"SH2 domain containing"	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.818G>A	9.37:g.93627351G>A	ENSP00000364907:p.Arg273His			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R273H	ENST00000375754.4	37	c.818	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	G	7.902	0.734710	0.15574	2.27E-4	0.0	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.73152	-0.71;-0.72;-0.72;-0.71	4.46	2.5	0.30297	.	0.736452	0.12398	N	0.472382	T	0.50650	0.1628	L	0.29908	0.895	0.09310	N	1	B;B;D	0.58620	0.002;0.005;0.983	B;B;B	0.41299	0.002;0.001;0.353	T	0.34775	-0.9815	10	0.13470	T	0.59	.	4.6034	0.12364	0.3433:0.0:0.6567:0.0	.	273;273;273	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	H	273	ENSP00000364907:R273H;ENSP00000364904:R273H;ENSP00000364899:R273H;ENSP00000364898:R273H	ENSP00000364898:R273H	R	+	2	0	SYK	92667172	0.067000	0.21026	0.017000	0.16124	0.206000	0.24218	1.019000	0.30014	0.712000	0.32039	0.561000	0.74099	CGT	SYK	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70	ENSG00000165025		0.443	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	-	0	71	0	G			93627351	1	tier1	rs139520862	no_errors	ENST00000375746	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.017	A	A	93627351	G	A	93627351	3	1	71	1	0	0	0	0	1	0	0	0	15485	1145	40	1	836	1	SYK	9	93627351	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	12707605	93627351	47586080	92	19223											
TSTD2	158427	genome.wustl.edu	37	chr9	100388272	100388272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttggttttgacaaaaaggGcaaaggcctgcaattagatt	13	12	10	6	0	0	2	0	1	0	1	0	2	0	2	1	3	1	3	1	3	5	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:100388272G>A	ENST00000341170.4	-	3	555	c.173C>T	c.(172-174)gCc>gTc	p.A58V	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	58										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACAAAAAGGGCAAAGGCCTG	0.358																																																	0													59	57	58					9																	100388272		2202	4300	6502	SO:0001583	missense	0			AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 97"	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.173C>T	9.37:g.100388272G>A	ENSP00000342499:p.Ala58Val		A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.A58V	ENST00000341170.4	37	c.173	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827521	0.71143	.	.	ENSG00000136925	ENST00000341170	T	0.38722	1.12	4.67	4.67	0.58626	.	0.110120	0.64402	D	0.000010	T	0.49321	0.1550	L	0.59436	1.845	0.80722	D	1	P	0.47106	0.89	P	0.47346	0.544	T	0.56306	-0.8001	10	0.87932	D	0	-7.7533	17.2082	0.86923	0.0:0.0:1.0:0.0	.	58	Q5T7W7	TSTD2_HUMAN	V	58	ENSP00000342499:A58V	ENSP00000342499:A58V	A	-	2	0	TSTD2	99428093	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.207000	0.72159	2.531000	0.85337	0.462000	0.41574	GCC	TSTD2	-	NULL	ENSG00000136925		0.358	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	HGNC	protein_coding	OTTHUMT00000053325.4		0	44	0	G	NM_139246		100388272	-1			no_errors	ENST00000341170	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	100388272	G	A	100388272	3	1	71	1	0	0	0	0	1	0	0	0	16724	1203	42	3	1409	3	TSTD2	9	100388272	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	6760921	100388272	40825159	93	19224											
IKBKAP	8518	genome.wustl.edu	37	chr9	111688831	111688831	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcatcctgatggatctgCtgctccaggattggctcaaa	11	11	9	10	0	3	1	2	1	1	0	5	3	5	3	2	3	2	3	2	3	2	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:111688831C>T	ENST00000374647.5	-	5	745	c.438G>A	c.(436-438)caG>caA	p.Q146Q	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	146					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GATGGATCTGCTGCTCCAGGA	0.353																																																	0													140	124	130					9																	111688831		2203	4300	6503	SO:0001819	synonymous_variant	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.438G>A	9.37:g.111688831C>T			Q5JSV2|Q9H327|Q9UG87	Silent	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.Q146	ENST00000374647.5	37	c.438	CCDS6773.1	9																																																																																			IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.353	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0	78	0	C			111688831	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.955	T	T	111688831	C	T	111688831	2	4	71	1	0	0	0	0	0	0	0	1	7637	796	28	3		3	IKBKAP	9	111688831	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	11300559	111688831	29524600	94	19225											
BAT2L1	84726	genome.wustl.edu	37	chr9	134357827	134357827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcgggagtcgtctgcgAcctcctcgcagcgcagctcc	5	8	12	16	5	2	0	0	0	2	0	7	2	4	1	3	1	3	3	3	1	0	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr9:134357827A>G	ENST00000357304.4	+	20	5108	c.5053A>G	c.(5053-5055)Acc>Gcc	p.T1685A	PRRC2B_ENST00000458550.1_Missense_Mutation_p.T991A|PRRC2B_ENST00000405995.1_Missense_Mutation_p.T991A|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1685							poly(A) RNA binding (GO:0044822)	p.T1685A(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GTCGTCTGCGACCTCCTCGCA	0.612																																																	1	Substitution - Missense(1)	prostate(1)											125	133	131					9																	134357827		1978	4164	6142	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5053A>G	9.37:g.134357827A>G	ENSP00000349856:p.Thr1685Ala		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.T1685A	ENST00000357304.4	37	c.5053	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.78|12.78	2.040096|2.040096	0.35989|0.35989	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000451855|ENST00000405995;ENST00000357304;ENST00000458550	.|T;T;T	.|0.02498	.|4.27;4.5;4.27	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	.|0.000000	.|0.42821	.|U	.|0.000648	T|T	0.09069|0.09069	0.0224|0.0224	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D	.|0.64830	.|0.994;0.972	.|D;P	.|0.63283	.|0.913;0.728	T|T	0.41124|0.41124	-0.9526|-0.9526	5|10	.|0.24483	.|T	.|0.36	-37.8609|-37.8609	13.7418|13.7418	0.62852|0.62852	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|417;1685	.|Q5JSZ8;Q5JSZ5	.|.;PRC2B_HUMAN	G|A	417|991;1685;991	.|ENSP00000384606:T991A;ENSP00000349856:T1685A;ENSP00000398853:T991A	.|ENSP00000349856:T1685A	D|T	+|+	2|1	0|0	PRRC2B|PRRC2B	133347648|133347648	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.886000|0.886000	0.51366|0.51366	5.454000|5.454000	0.66651|0.66651	1.846000|1.846000	0.53633|0.53633	0.459000|0.459000	0.35465|0.35465	GAC|ACC	PRRC2B	-	NULL	ENSG00000130723		0.612	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding			0	40	0	A			134357827	1			no_errors	ENST00000357304	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.979	G	G	134357827	A	G	134357827	3	3	71	1	0	0	0	0	1	0	0	0	1321	275	10	4	5131	4	BAT2L1	9	134357827	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	22668996	134357827	6855604	95	19226											
ANK3	288	genome.wustl.edu	37	chr10	61834168	61834168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaatgacaggagggatGggaacttcatgaaaaagtgg	14	9	14	4	0	2	2	1	2	1	0	2	5	2	5	0	4	1	1	0	4	4	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:61834168G>T	ENST00000280772.2	-	37	6662	c.6471C>A	c.(6469-6471)ccC>ccA	p.P2157P	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2157					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.I2158fs*64(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAGGAGGGATGGGAACTTCAT	0.483																																																	1	Deletion - Frameshift(1)	lung(1)											141	133	136					10																	61834168		2203	4300	6503	SO:0001819	synonymous_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.6471C>A	10.37:g.61834168G>T			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.P2157	ENST00000280772.2	37	c.6471	CCDS7258.1	10																																																																																			ANK3	-	NULL	ENSG00000151150		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	38	0	G	NM_020987		61834168	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	61834168	G	T	61834168	2	4	71	1	0	0	0	0	0	0	0	1	622	1335	47	3		3	ANK3	10	61834168	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09		61834168	73700579	96	19227											
JMJD1C	221037	genome.wustl.edu	37	chr10	64958355	64958355	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctattatatccaagatataTttagaagtctctatatctag	14	16	4	7	0	2	2	0	0	2	2	4	2	3	2	2	0	0	0	2	0	11	10	rs201595819		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:64958355T>C	ENST00000399262.2	-	12	5627	c.5409A>G	c.(5407-5409)aaA>aaG	p.K1803K	JMJD1C_ENST00000402544.1_Silent_p.K1584K|JMJD1C_ENST00000542921.1_Silent_p.K1621K|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1803					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAAGATATATTTAGAAGTCT	0.323																																																	0								T	,	0,3632		0,0,1816	123	122	122		4752,5409	2.7	1	10		122	2,8134		0,2,4066	no	coding-synonymous,coding-synonymous	JMJD1C	NM_004241.2,NM_032776.1	,	0,2,5882	CC,CT,TT		0.0246,0.0,0.017	,	1584/2304,1803/2541	64958355	2,11766	1816	4068	5884	SO:0001819	synonymous_variant	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5409A>G	10.37:g.64958355T>C			A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.K1803	ENST00000399262.2	37	c.5409	CCDS41532.1	10																																																																																			JMJD1C	-	NULL	ENSG00000171988		0.323	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2		0	30	0	T	NM_004241		64958355	-1			no_errors	ENST00000399262	ensembl	human	known	74_37	silent	13.64	19	3	SNP	1.000	C	C	64958355	T	C	64958355	2	2	71	1	0	0	0	0	0	0	0	1	7977	1490	52	4		4	JMJD1C	10	64958355	Silent	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	3124187	64958355	70576392	97	19228											
TNKS2	80351	genome.wustl.edu	37	chr10	93614825	93614825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttgaacacctctggtagtgGaacaattcttatagatctgt	11	15	8	7	0	3	2	0	1	3	1	3	3	3	3	1	2	2	1	1	2	6	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:93614825G>C	ENST00000371627.4	+	22	3234	c.2855G>C	c.(2854-2856)gGa>gCa	p.G952A		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	952					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGGTAGTGGAACAATTCTT	0.328																																																	0													88	89	89					10																	93614825		2203	4297	6500	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2855G>C	10.37:g.93614825G>C	ENSP00000360689:p.Gly952Ala		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.G952A	ENST00000371627.4	37	c.2855	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	g	26.8	4.773629	0.90108	.	.	ENSG00000107854	ENST00000371627	T	0.67171	-0.25	5.43	5.43	0.79202	.	0.000000	0.52532	U	0.000078	D	0.83473	0.5262	M	0.85197	2.74	0.58432	D	0.999991	D	0.65815	0.995	D	0.64776	0.929	D	0.85734	0.1333	10	0.66056	D	0.02	.	19.2349	0.93855	0.0:0.0:1.0:0.0	.	952	Q9H2K2	TNKS2_HUMAN	A	952	ENSP00000360689:G952A	ENSP00000360689:G952A	G	+	2	0	TNKS2	93604805	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.548000	0.85928	0.586000	0.80456	GGA	TNKS2	-	NULL	ENSG00000107854		0.328	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0	58	0	G	NM_025235		93614825	1			no_errors	ENST00000371627	ensembl	human	known	74_37	missense	6.45	57	4	SNP	1.000	C	C	93614825	G	C	93614825	3	2	71	1	0	0	0	0	1	0	0	0	16368	1174	41	5	2941	5	TNKS2	10	93614825	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	28656470	93614825	41919922	98	19229											
KIF11	3832	genome.wustl.edu	37	chr10	94373310	94373310	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaactagaatcctccaggaTtctcttggagggcgtacaag	11	10	10	10	1	1	1	0	0	1	1	4	3	3	3	2	3	2	1	2	3	5	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:94373310T>A	ENST00000260731.3	+	8	1056	c.966T>A	c.(964-966)gaT>gaA	p.D322E		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	322	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTCCAGGATTCTCTTGGAG	0.418																																					Colon(47;212 1003 2764 4062 8431)												0													73	72	72					10																	94373310		2203	4300	6503	SO:0001583	missense	0			X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"Kinesins"	6388	protein-coding gene	gene with protein product		148760	"kinesin-like 1"	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.966T>A	10.37:g.94373310T>A	ENSP00000260731:p.Asp322Glu		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D322E	ENST00000260731.3	37	c.966	CCDS7422.1	10	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782110	0.70222	.	.	ENSG00000138160	ENST00000260731	D	0.87650	-2.28	5.62	3.29	0.37713	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.87857	0.6283	L	0.35487	1.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84248	0.0476	10	0.36615	T	0.2	.	8.9792	0.35955	0.0:0.2247:0.0:0.7753	.	322	P52732	KIF11_HUMAN	E	322	ENSP00000260731:D322E	ENSP00000260731:D322E	D	+	3	2	KIF11	94363290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.709000	0.25734	0.421000	0.25980	0.482000	0.46254	GAT	KIF11	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000138160		0.418	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF11	HGNC	protein_coding	OTTHUMT00000049401.1	-	0	111	0	T	NM_004523		94373310	1	tier1	-	no_errors	ENST00000260731	ensembl	human	known	74_37	missense	17.43	90	19	SNP	1.000	A	A	94373310	T	A	94373310	3	1	71	1	0	0	0	0	1	0	0	0	8299	1490	52	5	996	5	KIF11	10	94373310	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	758485	94373310	41161437	99	19230											
FAM178A	55719	genome.wustl.edu	37	chr10	102721632	102721632	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttctccttcccttttttAggggcagcttcatgacttct	4	20	6	11	0	3	1	1	1	2	0	5	1	4	1	2	2	1	2	2	2	1	8			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:102721632A>T	ENST00000238961.4	+	20	4028		c.e20-1			NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A							chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TCCCTTTTTTAGGGGCAGCTT	0.348																																																	0													84	84	84					10																	102721632		2203	4300	6503	SO:0001630	splice_region_variant	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3487-1A>T	10.37:g.102721632A>T			A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Splice_Site	SNP	-	e20-2	ENST00000238961.4	37	c.3487-2	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814707	0.70912	.	.	ENSG00000119906	ENST00000238961	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9575	0.58438	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM178A	102711622	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.665000	0.61547	2.371000	0.80710	0.533000	0.62120	.	FAM178A	-	-	ENSG00000119906		0.348	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	-	0	35	0	A		Intron	102721632	1	tier1	-	no_errors	ENST00000238961	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	T	T	102721632	A	T	102721632	5	4	71	1	0	0	0	0	0	0	1	0	5522	434	15	5	3638	5	FAM178A	10	102721632	Splice_Site	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	8348322	102721632	32813115	100	19231											
PSD	5662	genome.wustl.edu	37	chr10	104173823	104173823	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgaggcgaggctggtatagGaggtgcctttggcccggtgt	5	9	19	8	3	0	0	0	0	0	0	0	3	0	1	2	7	1	2	2	7	2	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:104173823G>C	ENST00000020673.5	-	5	1782	c.1256C>G	c.(1255-1257)tCc>tGc	p.S419C	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.S419C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	419					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTGGTATAGGAGGTGCCTTT	0.637																																																	0													59	65	63					10																	104173823		2203	4300	6503	SO:0001583	missense	0			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"Pleckstrin homology (PH) domain containing"	9507	protein-coding gene	gene with protein product		602327	"pleckstrin and Sec7 domain protein"			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1256C>G	10.37:g.104173823G>C	ENSP00000020673:p.Ser419Cys		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.S419C	ENST00000020673.5	37	c.1256	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787393	0.90367	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.50813	0.73;0.73	5.47	5.47	0.80525	.	0.216830	0.28983	U	0.013519	T	0.57315	0.2045	L	0.34521	1.04	0.49130	D	0.999758	D	0.76494	0.999	P	0.61592	0.891	T	0.55108	-0.8192	10	0.42905	T	0.14	.	19.3875	0.94564	0.0:0.0:1.0:0.0	.	419	A5PKW4	PSD1_HUMAN	C	419;322;419	ENSP00000020673:S419C;ENSP00000384830:S419C	ENSP00000020673:S419C	S	-	2	0	PSD	104163813	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.415000	0.97375	2.594000	0.87642	0.555000	0.69702	TCC	PSD	-	NULL	ENSG00000059915		0.637	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	-	0	141	0	G			104173823	-1	tier1	-	no_errors	ENST00000020673	ensembl	human	known	74_37	missense	22.22	112	32	SNP	1.000	C	C	104173823	G	C	104173823	3	2	71	1	0	0	0	0	1	0	0	0	12688	1174	41	5	1870	5	PSD	10	104173823	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	1452191	104173823	31360924	101	19232											
SFXN2	118980	genome.wustl.edu	37	chr10	104489519	104489519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgctgggtgccctttgccGctgtggctgcggctaactgt	2	11	15	13	3	0	0	0	0	0	0	0	0	0	0	3	3	4	4	3	3	1	2	rs376492604		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:104489519G>A	ENST00000369893.5	+	6	714	c.547G>A	c.(547-549)Gct>Act	p.A183T		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	183				QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 4). {ECO:0000305}.	iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCCCTTTGCCGCTGTGGCTGC	0.567											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	THR/ALA	0,4406		0,0,2203	76	83	81		547	5.7	0.5	10		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN2	NM_178858.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	183/323	104489519	1,13005	2203	4300	6503	SO:0001583	missense	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.547G>A	10.37:g.104489519G>A	ENSP00000358909:p.Ala183Thr	1382	Q5JSM6	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.A183T	ENST00000369893.5	37	c.547	CCDS7539.1	10	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470027	0.84533	0.0	1.16E-4	ENSG00000156398	ENST00000369893	T	0.55052	0.54	5.7	5.7	0.88788	.	0.046672	0.85682	D	0.000000	T	0.82153	0.4975	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87018	0.2127	10	0.87932	D	0	-17.3007	19.8314	0.96638	0.0:0.0:1.0:0.0	.	183	Q96NB2	SFXN2_HUMAN	T	183	ENSP00000358909:A183T	ENSP00000358909:A183T	A	+	1	0	SFXN2	104479509	1.000000	0.71417	0.459000	0.27081	0.114000	0.19823	7.913000	0.87471	2.675000	0.91044	0.655000	0.94253	GCT	SFXN2	-	pfam_Mtc,tigrfam_Mtc	ENSG00000156398		0.567	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	-	0	56	0	G	XM_058359		104489519	1	tier1	-	no_errors	ENST00000369893	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	A	A	104489519	G	A	104489519	3	1	71	1	0	0	0	0	1	0	0	0	14240	1087	38	1	565	1	SFXN2	10	104489519	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	315696	104489519	31045228	102	19233											
SORCS3	22986	genome.wustl.edu	37	chr10	107015536	107015536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggggtacaagtcattgTgtatgtcacacagctgacgt	9	10	13	9	2	2	1	2	1	0	0	2	1	2	1	1	2	2	3	1	2	3	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr10:107015536T>C	ENST00000369701.3	+	24	3541	c.3314T>C	c.(3313-3315)gTg>gCg	p.V1105A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1105					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAGTCATTGTGTATGTCACA	0.438																																					NSCLC(116;1497 1690 7108 13108 14106)												0													113	98	103					10																	107015536		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3314T>C	10.37:g.107015536T>C	ENSP00000358715:p.Val1105Ala		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.V1105A	ENST00000369701.3	37	c.3314	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	T	28.8	4.950583	0.92660	.	.	ENSG00000156395	ENST00000369701	T	0.25085	1.82	5.73	5.73	0.89815	.	0.066185	0.64402	D	0.000010	T	0.49133	0.1539	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.39981	-0.9587	9	.	.	.	.	16.3265	0.82983	0.0:0.0:0.0:1.0	.	1105	Q9UPU3	SORC3_HUMAN	A	1105	ENSP00000358715:V1105A	.	V	+	2	0	SORCS3	107005526	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.833000	0.62766	2.313000	0.78055	0.455000	0.32223	GTG	SORCS3	-	NULL	ENSG00000156395		0.438	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1		0	78	0	T	NM_014978		107015536	1			no_errors	ENST00000369701	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	C	C	107015536	T	C	107015536	3	2	71	1	0	0	0	0	1	0	0	0	14977	1696	59	4	3408	4	SORCS3	10	107015536	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	2526017	107015536	28519211	103	19234											
HBE1	3046	genome.wustl.edu	37	chr11	5290891	5290891	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaatctctgggtccagggGtaaacaacgaggagtctatg	14	8	12	7	1	2	0	0	0	2	0	4	2	3	1	1	4	2	1	1	4	6	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:5290891G>T	ENST00000380237.1	-	4	452	c.108C>A	c.(106-108)taC>taA	p.Y36*	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Nonsense_Mutation_p.Y36*			P02100	HBE_HUMAN	hemoglobin, epsilon 1	36					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTCCAGGGGTAAACAACGA	0.453																																																	0													60	61	61					11																	5290891		2201	4297	6498	SO:0001587	stop_gained	0			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.108C>A	11.37:g.5290891G>T	ENSP00000369586:p.Tyr36*		Q6FH44	Nonsense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.Y36*	ENST00000380237.1	37	c.108	CCDS7756.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.889461	0.97068	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	.	.	.	6.02	-1.32	0.09201	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.94	11.0921	0.48121	0.5357:0.0:0.4643:0.0	.	.	.	.	X	36	.	ENSP00000292896:Y36X	Y	-	3	2	HBE1	5247467	1.000000	0.71417	0.988000	0.46212	0.781000	0.44180	0.996000	0.29719	-0.230000	0.09840	-0.147000	0.13772	TAC	HBE1	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	ENSG00000213931		0.453	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBE1	HGNC	protein_coding	OTTHUMT00000142973.2	-	0	57	0	G	NM_005330		5290891	-1	tier1	-	no_errors	ENST00000292896	ensembl	human	known	74_37	nonsense	26.19	31	11	SNP	0.998	T	T	5290891	G	T	5290891	4	4	71	1	0	0	0	0	0	1	0	0	7007	1256	44	3	343	3	HBE1	11	5290891	Nonsense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09		5290891	129715625	104	19235											
OR2AG2	338755	genome.wustl.edu	37	chr11	6790090	6790090	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagtgccaacatgtatagGattgtaaatgtagcatagag	14	11	11	5	0	1	1	1	0	0	1	1	2	1	2	1	1	3	4	1	1	7	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:6790090G>T	ENST00000338569.2	-	1	196	c.99C>A	c.(97-99)atC>atA	p.I33I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACATGTATAGGATTGTAAATG	0.537																																																	0													114	108	110					11																	6790090		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"GPCR / Class A : Olfactory receptors"	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.99C>A	11.37:g.6790090G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I33	ENST00000338569.2	37	c.99	CCDS31413.1	11																																																																																			OR2AG2	-	prints_GPCR_Rhodpsn	ENSG00000188124		0.537	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG2	HGNC	protein_coding	OTTHUMT00000386775.1	-	0	85	0	G	NM_001004490		6790090	-1	tier1	-	no_errors	ENST00000338569	ensembl	human	known	74_37	silent	40.98	36	25	SNP	0.000	T	T	6790090	G	T	6790090	2	4	71	1	0	0	0	0	0	0	0	1	11024	1164	41	3		3	OR2AG2	11	6790090	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	1499199	6790090	128216426	105	19236											
ZNF214	7761	genome.wustl.edu	37	chr11	7022088	7022088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtcaacttcatcacatcCgtacagcttcttacctatgt	10	13	4	14	2	4	0	3	0	1	0	5	0	5	0	3	0	4	2	3	0	4	5	rs201911443		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:7022088C>T	ENST00000278314.4	-	3	1141	c.826G>A	c.(826-828)Gga>Aga	p.G276R	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.G276R	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G276R(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCATCACATCCGTACAGCTTC	0.438													C|||	1	0.000199681	0	0	5008	,	,		19775	0		0	False		,,,				2504	0.001				Ovarian(22;251 657 736 21522 46864)												1	Substitution - Missense(1)	lung(1)											131	126	128					11																	7022088		2200	4295	6495	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.826G>A	11.37:g.7022088C>T	ENSP00000278314:p.Gly276Arg		B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G276R	ENST00000278314.4	37	c.826	CCDS31418.1	11	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.040	-1.288939	0.01387	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.14391	2.51;2.51	3.75	0.347	0.16022	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.160165	0.29799	N	0.011177	T	0.04048	0.0113	N	0.02674	-0.535	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.33803	-0.9854	10	0.37606	T	0.19	.	3.7823	0.08686	0.0:0.4272:0.1852:0.3876	.	276	Q9UL59	ZN214_HUMAN	R	276	ENSP00000278314:G276R;ENSP00000445373:G276R	ENSP00000278314:G276R	G	-	1	0	ZNF214	6978664	0.000000	0.05858	0.110000	0.21437	0.767000	0.43475	-3.262000	0.00535	0.083000	0.17047	0.650000	0.86243	GGA	ZNF214	-	pfscan_Znf_C2H2	ENSG00000149050		0.438	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1		0	26	0	C			7022088	-1			no_errors	ENST00000278314	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.001	T	T	7022088	C	T	7022088	3	4	71	1	0	0	0	0	1	0	0	0	17818	661	23	1	998	1	ZNF214	11	7022088	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	231998	7022088	127984428	106	19237											
GIF	2694	genome.wustl.edu	37	chr11	59604768	59604768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcattgagtatcatatcCgtagtcttcttgcagttcca	9	16	6	10	1	4	1	2	1	3	0	7	1	6	1	2	0	1	4	2	0	3	7	rs377432418		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:59604768C>T	ENST00000257248.2	-	6	797	c.750G>A	c.(748-750)acG>acA	p.T250T	GIF_ENST00000541311.1_Silent_p.T225T	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	250					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GTATCATATCCGTAGTCTTCT	0.443													C|||	1	0.000199681	0	0	5008	,	,		24617	0		0	False		,,,				2504	0.001				NSCLC(53;1139 1245 16872 38474 42853)												0								C		0,4402		0,0,2201	222	201	208		750	5.7	0.7	11		208	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	GIF	NM_005142.2		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		250/418	59604768	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	0			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.750G>A	11.37:g.59604768C>T			B2RAN8|B4DVZ1	Silent	SNP	pfam_Cbl-bd_transpt_euk	p.T250	ENST00000257248.2	37	c.750	CCDS7977.1	11																																																																																			GIF	-	pfam_Cbl-bd_transpt_euk	ENSG00000134812		0.443	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIF	HGNC	protein_coding	OTTHUMT00000394497.1	-	0	89	0	C	NM_005142		59604768	-1	tier1	-	no_errors	ENST00000257248	ensembl	human	known	74_37	silent	16.00	84	16	SNP	0.969	T	T	59604768	C	T	59604768	2	4	71	1	0	0	0	0	0	0	0	1	6402	639	23	1		1	GIF	11	59604768	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	52582680	59604768	75401748	107	19238											
MS4A10	341116	genome.wustl.edu	37	chr11	60565933	60565933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgccggtggagccccCgccatcctaccagagtgtga	7	6	13	15	2	0	2	0	1	0	1	1	3	1	3	7	3	3	0	7	3	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:60565933C>T	ENST00000308287.1	+	7	764	c.668C>T	c.(667-669)cCg>cTg	p.P223L		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	223						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GTGGAGCCCCCGCCATCCTAC	0.562																																																	0													100	94	96					11																	60565933		2203	4299	6502	SO:0001583	missense	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.668C>T	11.37:g.60565933C>T	ENSP00000311862:p.Pro223Leu		B2RP45|Q96PG3	Missense_Mutation	SNP	pfam_CD20-like	p.P223L	ENST00000308287.1	37	c.668	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	C	7.532	0.658968	0.14645	.	.	ENSG00000172689	ENST00000308287	T	0.25912	1.77	2.59	1.67	0.24075	.	0.253290	0.20954	N	0.082695	T	0.13884	0.0336	L	0.29908	0.895	0.09310	N	1	P	0.38711	0.643	B	0.31946	0.138	T	0.15235	-1.0444	10	0.72032	D	0.01	-3.5167	5.3715	0.16142	0.0:0.8369:0.0:0.1631	.	223	Q96PG2	M4A10_HUMAN	L	223	ENSP00000311862:P223L	ENSP00000311862:P223L	P	+	2	0	MS4A10	60322509	0.002000	0.14202	0.011000	0.14972	0.009000	0.06853	0.264000	0.18497	0.639000	0.30564	0.467000	0.42956	CCG	MS4A10	-	NULL	ENSG00000172689		0.562	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1	-	0	69	0	C	NM_206893		60565933	1	tier1	-	no_errors	ENST00000308287	ensembl	human	known	74_37	missense	23.88	51	16	SNP	0.012	T	T	60565933	C	T	60565933	3	4	71	1	0	0	0	0	1	0	0	0	9893	652	23	1	690	1	MS4A10	11	60565933	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	961165	60565933	74440583	108	19239											
SUV420H1	51111	genome.wustl.edu	37	chr11	67926519	67926519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaccctggaattatttaTatgagttagcttagatgagg	11	15	11	4	0	0	3	0	2	0	1	0	4	0	4	1	3	2	3	1	3	7	7			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:67926519T>C	ENST00000304363.4	-	11	1647	c.1294A>G	c.(1294-1296)Ata>Gta	p.I432V		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	432					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATTATTTATATGAGTTAGC	0.383																																																	0													99	103	101					11																	67926519		2199	4294	6493	SO:0001583	missense	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.1294A>G	11.37:g.67926519T>C	ENSP00000305899:p.Ile432Val		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.I432V	ENST00000304363.4	37	c.1294	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	T	5.383	0.255967	0.10185	.	.	ENSG00000110066	ENST00000304363	T	0.40476	1.03	5.55	-10.7	0.00240	.	0.892392	0.09900	N	0.741210	T	0.17577	0.0422	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22977	-1.0201	10	0.12430	T	0.62	0.1819	9.9107	0.41403	0.0:0.3808:0.3483:0.2709	.	432	Q4FZB7	SV421_HUMAN	V	432	ENSP00000305899:I432V	ENSP00000305899:I432V	I	-	1	0	SUV420H1	67683095	0.046000	0.20272	0.000000	0.03702	0.847000	0.48162	-0.226000	0.09139	-1.874000	0.01133	-0.438000	0.05819	ATA	SUV420H1	-	NULL	ENSG00000110066		0.383	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1		0	25	0	T	NM_017635		67926519	-1			no_errors	ENST00000304363	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.000	C	C	67926519	T	C	67926519	3	2	71	1	0	0	0	0	1	0	0	0	15461	1406	49	4	1367	4	SUV420H1	11	67926519	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	7360586	67926519	67079997	109	19240											
LRP5	4041	genome.wustl.edu	37	chr11	68157387	68157387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagagaaccctaaaaTcgagtgtgccaacttggatg	12	8	13	8	1	0	1	0	0	0	1	1	5	0	3	2	3	3	0	2	3	4	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:68157387T>C	ENST00000294304.7	+	7	1557	c.1451T>C	c.(1450-1452)aTc>aCc	p.I484T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	484	Beta-propeller 2.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACCCTAAAATCGAGTGTGCC	0.602																																																	0													130	119	122					11																	68157387		2200	4294	6494	SO:0001583	missense	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1451T>C	11.37:g.68157387T>C	ENSP00000294304:p.Ile484Thr		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I484T	ENST00000294304.7	37	c.1451	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935893	0.73442	.	.	ENSG00000162337	ENST00000294304	D	0.94046	-3.34	3.3	3.3	0.37823	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.46758	U	0.000266	D	0.97848	0.9293	H	0.99058	4.415	0.58432	D	0.999999	D	0.71674	0.998	D	0.69479	0.964	D	0.98368	1.0552	10	0.87932	D	0	.	12.7089	0.57078	0.0:0.0:0.0:1.0	.	484	O75197	LRP5_HUMAN	T	484	ENSP00000294304:I484T	ENSP00000294304:I484T	I	+	2	0	LRP5	67913963	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.684000	0.84104	1.758000	0.51981	0.454000	0.30748	ATC	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000162337		0.602	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	-	0	58	0	T	NM_002335		68157387	1	tier1	-	no_errors	ENST00000294304	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	C	C	68157387	T	C	68157387	3	2	71	1	0	0	0	0	1	0	0	0	8995	1435	50	4	1477	4	LRP5	11	68157387	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	230868	68157387	66849129	110	19241											
SHANK2	22941	genome.wustl.edu	37	chr11	70332599	70332599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtccccgggtgttctGcctggtgaccgtagggaagc	5	8	17	11	2	1	1	0	1	1	0	2	2	2	2	4	5	2	2	4	5	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:70332599G>T	ENST00000423696.2	-	15	2698	c.2662C>A	c.(2662-2664)Cag>Aag	p.Q888K	SHANK2_ENST00000409161.1_Missense_Mutation_p.Q671K|SHANK2_ENST00000338508.4_Missense_Mutation_p.Q1268K|SHANK2_ENST00000449833.2_Missense_Mutation_p.Q672K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	888					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGGTGTTCTGCCTGGTGACC	0.597																																																	0													75	81	79					11																	70332599		2200	4294	6494	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2662C>A	11.37:g.70332599G>T	ENSP00000394536:p.Gln888Lys		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.Q1268K	ENST00000423696.2	37	c.3802		11	.	.	.	.	.	.	.	.	.	.	G	2.041	-0.420114	0.04734	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.09	5.09	0.68999	.	0.347524	0.34802	N	0.003671	T	0.26412	0.0645	L	0.60455	1.87	0.80722	D	1	B;P;P	0.44776	0.212;0.843;0.51	B;P;B	0.45406	0.114;0.479;0.228	T	0.05566	-1.0877	10	0.06625	T	0.88	.	18.4864	0.90831	0.0:0.0:1.0:0.0	.	888;1267;672	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	672;671;546;1268;888;906;891	ENSP00000399423:Q672K;ENSP00000386491:Q671K;ENSP00000402944:Q546K;ENSP00000345193:Q1268K;ENSP00000394536:Q888K;ENSP00000294018:Q891K	ENSP00000294018:Q891K	Q	-	1	0	SHANK2	70010247	1.000000	0.71417	1.000000	0.80357	0.201000	0.24016	9.227000	0.95236	2.354000	0.79902	0.561000	0.74099	CAG	SHANK2	-	NULL	ENSG00000162105		0.597	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		-	0	63	0	G	NM_012309		70332599	-1	tier1	-	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	7.58	195	16	SNP	1.000	T	T	70332599	G	T	70332599	3	4	71	1	0	0	0	0	1	0	0	0	14310	1328	46	3	1758	3	SHANK2	11	70332599	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	2175212	70332599	64673917	111	19242											
FAT3	120114	genome.wustl.edu	37	chr11	92531258	92531258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacatcagtcattctaatCtctgccatcagtcaatctac	12	12	5	12	0	7	0	4	0	3	0	8	1	7	1	1	1	3	0	1	1	4	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr11:92531258C>G	ENST00000298047.6	+	9	5096	c.5079C>G	c.(5077-5079)atC>atG	p.I1693M	FAT3_ENST00000409404.2_Missense_Mutation_p.I1693M|FAT3_ENST00000525166.1_Missense_Mutation_p.I1543M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1693	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATTCTAATCTCTGCCATCA	0.393										TCGA Ovarian(4;0.039)																																							0													114	114	114					11																	92531258		1951	4138	6089	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5079C>G	11.37:g.92531258C>G	ENSP00000298047:p.Ile1693Met		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1693M	ENST00000298047.6	37	c.5079		11	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772797	0.49680	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52983	0.64;0.64;0.64	5.93	4.04	0.47022	.	.	.	.	.	T	0.37758	0.1015	L	0.45137	1.4	0.80722	D	1	P	0.48089	0.905	B	0.39419	0.299	T	0.25779	-1.0122	9	0.87932	D	0	.	9.5051	0.39042	0.0:0.676:0.0:0.324	.	1693	Q8TDW7-3	.	M	1693;1693;1543	ENSP00000298047:I1693M;ENSP00000387040:I1693M;ENSP00000432586:I1543M	ENSP00000298047:I1693M	I	+	3	3	FAT3	92170906	0.245000	0.23899	0.998000	0.56505	0.992000	0.81027	-0.381000	0.07417	0.828000	0.34709	0.591000	0.81541	ATC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.393	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	38	0	C	NM_001008781		92531258	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.998	G	G	92531258	C	G	92531258	3	3	71	1	0	0	0	0	1	0	0	0	5713	903	32	5	5113	5	FAT3	11	92531258	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	22198659	92531258	42475258	112	19243											
FGF23	8074	genome.wustl.edu	37	chr12	4479523	4479523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccctagatgaacttggCgaaggggcggcagccttccg	8	6	15	12	4	0	2	0	1	0	1	1	4	1	2	3	4	2	1	3	4	3	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:4479523C>T	ENST00000237837.1	-	3	887	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	248					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			ATGAACTTGGCGAAGGGGCGG	0.632																																																	0													60	67	64					12																	4479523		2203	4300	6503	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.742G>A	12.37:g.4479523C>T	ENSP00000237837:p.Ala248Thr		Q4V758	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.A248T	ENST00000237837.1	37	c.742	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728540	0.89390	.	.	ENSG00000118972	ENST00000237837	T	0.80123	-1.34	4.58	4.58	0.56647	.	0.000000	0.52532	D	0.000063	T	0.63498	0.2516	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.58451	-0.7634	10	0.87932	D	0	0.1529	10.6781	0.45797	0.0:0.1937:0.8063:0.0	.	248	Q9GZV9	FGF23_HUMAN	T	248	ENSP00000237837:A248T	ENSP00000237837:A248T	A	-	1	0	FGF23	4349784	0.994000	0.37717	0.052000	0.19188	0.152000	0.21847	1.913000	0.39956	1.146000	0.42352	-0.232000	0.12228	GCC	FGF23	-	NULL	ENSG00000118972		0.632	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	-	0	69	0	C			4479523	-1	tier1	-	no_errors	ENST00000237837	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.030	T	T	4479523	C	T	4479523	3	4	71	1	0	0	0	0	1	0	0	0	5874	768	27	1	17	1	FGF23	12	4479523	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09		4479523	129372372	113	19244											
KCNA5	3741	genome.wustl.edu	37	chr12	5154910	5154910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacggatcacgaggagccgGcagtccttaaggaagagcag	14	4	14	9	3	1	1	1	0	0	1	2	5	2	4	2	4	3	2	2	4	3	1	rs540903138		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:5154910G>T	ENST00000252321.3	+	1	1826	c.1597G>T	c.(1597-1599)Gca>Tca	p.A533S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	533					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CGAGGAGCCGGCAGTCCTTAA	0.632													G|||	1	0.000199681	0	0.0014	5008	,	,		18823	0		0	False		,,,				2504	0																0													53	53	53					12																	5154910		2203	4300	6503	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1597G>T	12.37:g.5154910G>T	ENSP00000252321:p.Ala533Ser		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.A533S	ENST00000252321.3	37	c.1597	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074474	0.36566	.	.	ENSG00000130037	ENST00000252321	D	0.97665	-4.48	4.94	4.94	0.65067	.	0.152198	0.43919	U	0.000519	D	0.95497	0.8537	L	0.58669	1.825	0.36982	D	0.894329	B	0.12013	0.005	B	0.13407	0.009	D	0.94408	0.7629	10	0.31617	T	0.26	.	17.3385	0.87289	0.0:0.0:1.0:0.0	.	533	P22460	KCNA5_HUMAN	S	533	ENSP00000252321:A533S	ENSP00000252321:A533S	A	+	1	0	KCNA5	5025171	0.344000	0.24827	0.898000	0.35279	0.953000	0.61014	0.593000	0.23999	2.563000	0.86464	0.561000	0.74099	GCA	KCNA5	-	prints_K_chnl_volt-dep_Kv1.5	ENSG00000130037		0.632	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2	-	0	59	0	G	NM_002234		5154910	1	tier1	-	no_errors	ENST00000252321	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.998	T	T	5154910	G	T	5154910	3	4	71	1	0	0	0	0	1	0	0	0	8033	1203	42	3	1599	3	KCNA5	12	5154910	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	675387	5154910	128696985	114	19245											
PTPRO	5800	genome.wustl.edu	37	chr12	15673162	15673162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaatctgctgccagcatggTactacaacttccgggttacc	9	11	8	13	1	1	0	0	0	1	0	2	0	2	0	3	2	7	4	3	2	5	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:15673162T>C	ENST00000281171.4	+	10	2137	c.1807T>C	c.(1807-1809)Tac>Cac	p.Y603H	PTPRO_ENST00000348962.2_Missense_Mutation_p.Y603H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	603	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCCAGCATGGTACTACAACTT	0.463																																																	0													130	122	125					12																	15673162		2203	4300	6503	SO:0001583	missense	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1807T>C	12.37:g.15673162T>C	ENSP00000281171:p.Tyr603His		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Y603H	ENST00000281171.4	37	c.1807	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356643	0.82243	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	T;T	0.53857	0.6;0.6	5.34	5.34	0.76211	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000341	T	0.53786	0.1818	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.63381	0.914;0.823	T	0.46952	-0.9154	10	0.17369	T	0.5	.	14.0453	0.64702	0.0:0.0:0.0:1.0	.	603;603	Q16827-2;Q16827	.;PTPRO_HUMAN	H	603	ENSP00000281171:Y603H;ENSP00000343434:Y603H	ENSP00000281171:Y603H	Y	+	1	0	PTPRO	15564429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.172000	0.77604	2.240000	0.73641	0.533000	0.62120	TAC	PTPRO	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000151490		0.463	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1		0	33	0	T			15673162	1			no_errors	ENST00000281171	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	C	C	15673162	T	C	15673162	3	2	71	1	0	0	0	0	1	0	0	0	12854	1638	57	4	1845	4	PTPRO	12	15673162	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	10518252	15673162	118178733	115	19246											
C12orf40	283461	genome.wustl.edu	37	chr12	40041727	40041727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaactaaatttcacatctgGaatagcacctactcctcaga	16	10	4	11	0	3	1	2	0	1	1	4	2	4	2	2	1	3	1	2	1	7	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:40041727G>T	ENST00000324616.5	+	6	672	c.518G>T	c.(517-519)gGa>gTa	p.G173V	C12orf40_ENST00000405531.3_Missense_Mutation_p.G173V|C12orf40_ENST00000398716.1_Missense_Mutation_p.G96V	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	173										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TTCACATCTGGAATAGCACCT	0.333																																																	0													80	76	78					12																	40041727		1821	4074	5895	SO:0001583	missense	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.518G>T	12.37:g.40041727G>T	ENSP00000317671:p.Gly173Val		B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	NULL	p.G173V	ENST00000324616.5	37	c.518	CCDS41770.1	12	.	.	.	.	.	.	.	.	.	.	G	1.883	-0.457398	0.04508	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.44083	0.93;0.94	3.65	0.354	0.16063	.	1.229440	0.06050	N	0.656370	T	0.23094	0.0558	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.24404	-1.0161	10	0.48119	T	0.1	.	1.0564	0.01591	0.1509:0.226:0.3928:0.2303	.	173	Q86WS4	CL040_HUMAN	V	173;96;173	ENSP00000383897:G173V;ENSP00000317671:G173V	ENSP00000317671:G173V	G	+	2	0	C12orf40	38327994	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.019000	0.13444	0.068000	0.16574	0.557000	0.71058	GGA	C12orf40	-	NULL	ENSG00000180116		0.333	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2	-	0	77	0	G	NM_173599		40041727	1	tier1	-	no_errors	ENST00000324616	ensembl	human	known	74_37	missense	6.56	56	4	SNP	0.001	T	T	40041727	G	T	40041727	3	4	71	1	0	0	0	0	1	0	0	0	1691	1174	41	3	540	3	C12orf40	12	40041727	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	24368565	40041727	93810168	116	19247											
ERBB3	2065	genome.wustl.edu	37	chr12	56495558	56495558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaccctgtacccatcatgCccactgcaggcacaactcca	10	7	5	19	0	1	0	1	0	0	0	3	0	3	0	5	1	4	3	5	1	2	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:56495558C>T	ENST00000267101.3	+	28	4188	c.3748C>T	c.(3748-3750)Ccc>Tcc	p.P1250S	RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Missense_Mutation_p.P607S|PA2G4_ENST00000552766.1_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.P370S|ERBB3_ENST00000553131.1_Missense_Mutation_p.P491S|PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000415288.2_Missense_Mutation_p.P1191S|RP11-603J24.17_ENST00000548595.1_RNA	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1250					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCCATCATGCCCACTGCAGG	0.562																																																	0													84	71	76					12																	56495558		2203	4300	6503	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3748C>T	12.37:g.56495558C>T	ENSP00000267101:p.Pro1250Ser		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P1250S	ENST00000267101.3	37	c.3748	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	C	10.71	1.428044	0.25726	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.78364	-1.0;-0.94;-0.99;-1.17;-0.92	5.29	3.44	0.39384	.	0.423844	0.23056	N	0.052424	T	0.62122	0.2402	L	0.29908	0.895	0.20307	N	0.999913	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.42207	-0.9465	10	0.14252	T	0.57	.	8.9816	0.35968	0.0:0.6432:0.2799:0.0769	.	1191;370;1250	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	S	1250;607;1191;373;491;370	ENSP00000267101:P1250S;ENSP00000399178:P607S;ENSP00000408340:P1191S;ENSP00000449129:P491S;ENSP00000448729:P370S	ENSP00000267101:P1250S	P	+	1	0	ERBB3	54781825	0.000000	0.05858	0.932000	0.37286	0.970000	0.65996	0.113000	0.15499	0.776000	0.33473	0.655000	0.94253	CCC	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.562	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	-	0	74	0	C			56495558	1	tier1	-	no_errors	ENST00000267101	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.342	T	T	56495558	C	T	56495558	3	4	71	1	0	0	0	0	1	0	0	0	5224	739	26	3	3989	3	ERBB3	12	56495558	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	16453831	56495558	77356337	117	19248											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85546923	85546923	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacacaatttaatagcaGgtaagctaaactattgtttt	16	13	5	7	0	0	0	0	0	0	0	0	0	0	0	0	1	3	4	0	1	7	9			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:85546923G>T	ENST00000393217.2	+	21	4602	c.4541G>T	c.(4540-4542)aGa>aTa	p.R1514I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1514										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTAATAGCAGGTAAGCTAAA	0.289																																																	0													85	82	83					12																	85546923		1827	4066	5893	SO:0001630	splice_region_variant	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4541+1G>T	12.37:g.85546923G>T			Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.R1514I	ENST00000393217.2	37	c.4541	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269512	0.40095	.	.	ENSG00000133640	ENST00000393217	T	0.58652	0.32	5.42	3.59	0.41128	.	.	.	.	.	T	0.41442	0.1159	L	0.27053	0.805	0.80722	D	1	B	0.34372	0.451	B	0.31869	0.137	T	0.42982	-0.9419	9	0.87932	D	0	.	8.5163	0.33248	0.2363:0.0:0.7637:0.0	.	1514	Q96JM4	LRIQ1_HUMAN	I	1514	ENSP00000376910:R1514I	ENSP00000376910:R1514I	R	+	2	0	LRRIQ1	84071054	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	2.559000	0.45888	1.274000	0.44362	0.650000	0.86243	AGA	LRRIQ1	-	NULL	ENSG00000133640		0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	99	0	G	NM_032165	Missense_Mutation	85546923	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	T	T	85546923	G	T	85546923	5	4	71	1	0	0	0	0	0	0	1	0	9064	1014	35	3	4623	3	LRRIQ1	12	85546923	Splice_Site	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	29051365	85546923	48304972	118	19249											
NFYB	4801	genome.wustl.edu	37	chr12	104515062	104515062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttagtccatctgtagctGtgactgctccaccaattccc	8	12	6	15	0	1	1	0	1	1	0	4	1	4	1	4	0	2	3	4	0	3	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:104515062G>T	ENST00000240055.3	-	6	694	c.467C>A	c.(466-468)aCa>aAa	p.T156K	NFYB_ENST00000551727.1_Missense_Mutation_p.T156K	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	156	C domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCTGTGACTGCTCC	0.363																																																	0													302	299	300					12																	104515062		2203	4300	6503	SO:0001583	missense	0				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.467C>A	12.37:g.104515062G>T	ENSP00000240055:p.Thr156Lys		A8K7B9|Q96IY8	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3	p.T156K	ENST00000240055.3	37	c.467	CCDS9098.1	12	.	.	.	.	.	.	.	.	.	.	.	19.74	3.883604	0.72410	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	T;T	0.21031	2.03;2.03	5.58	5.58	0.84498	Histone-fold (2);	0.250779	0.47455	D	0.000232	T	0.20700	0.0498	L	0.33485	1.01	0.42638	D	0.993407	B	0.18013	0.025	B	0.23275	0.045	T	0.03403	-1.1040	10	0.29301	T	0.29	-9.8463	19.5809	0.95467	0.0:0.0:1.0:0.0	.	156	P25208	NFYB_HUMAN	K	156	ENSP00000240055:T156K;ENSP00000447486:T156K	ENSP00000240055:T156K	T	-	2	0	NFYB	103039192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.301000	0.89951	2.629000	0.89072	0.650000	0.86243	ACA	NFYB	-	superfamily_Histone-fold	ENSG00000120837		0.363	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	-	0	42	0	G			104515062	-1	tier1	-	no_errors	ENST00000240055	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	104515062	G	T	104515062	3	4	71	1	0	0	0	0	1	0	0	0	10429	1377	48	3	168	3	NFYB	12	104515062	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	18968139	104515062	29336833	119	19250											
NUAK1	9891	genome.wustl.edu	37	chr12	106460744	106460744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagtcctggatctggaGgaagttttctgcagagacgc	10	10	12	9	1	3	1	1	0	2	1	4	5	4	4	1	3	1	2	1	3	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:106460744G>A	ENST00000261402.2	-	7	3201	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	608					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGATCTGGAGGAAGTTTTCT	0.617																																																	0													37	44	42					12																	106460744		2203	4300	6503	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1822C>T	12.37:g.106460744G>A	ENSP00000261402:p.Leu608Phe		A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L608F	ENST00000261402.2	37	c.1822	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415411	0.83449	.	.	ENSG00000074590	ENST00000261402	T	0.78595	-1.19	5.82	5.82	0.92795	.	0.000000	0.53938	D	0.000058	D	0.85128	0.5626	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	D	0.84758	0.0760	10	0.46703	T	0.11	.	13.3208	0.60432	0.0721:0.0:0.9279:0.0	.	608	O60285	NUAK1_HUMAN	F	608	ENSP00000261402:L608F	ENSP00000261402:L608F	L	-	1	0	NUAK1	104984874	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.646000	0.83445	2.756000	0.94617	0.563000	0.77884	CTC	NUAK1	-	NULL	ENSG00000074590		0.617	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	-	0	83	0	G	NM_014840		106460744	-1	tier1	-	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	19.77	69	17	SNP	1.000	A	A	106460744	G	A	106460744	3	1	71	1	0	0	0	0	1	0	0	0	10751	1000	35	3	167	3	NUAK1	12	106460744	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	1945682	106460744	27391151	120	19251											
DDX54	79039	genome.wustl.edu	37	chr12	113617119	113617119	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccacgtccttgccatcCaagatcaccgggatggtctg	8	8	10	15	2	2	1	1	0	1	1	4	2	4	2	6	2	1	0	6	2	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:113617119C>G	ENST00000306014.5	-	4	420	c.393G>C	c.(391-393)ttG>ttC	p.L131F	DDX54_ENST00000314045.7_Missense_Mutation_p.L131F|Y_RNA_ENST00000364338.1_RNA	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	131	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTTGCCATCCAAGATCACCG	0.607																																																	0													39	36	37					12																	113617119		2202	4300	6502	SO:0001583	missense	0			AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"DEAD-boxes"	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.393G>C	12.37:g.113617119C>G	ENSP00000304072:p.Leu131Phe		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L131F	ENST00000306014.5	37	c.393	CCDS31907.1	12	.	.	.	.	.	.	.	.	.	.	C	19.18	3.778182	0.70107	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.23348	1.91;1.91;1.91	5.55	5.55	0.83447	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.54919	0.1888	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.60777	-0.7196	10	0.87932	D	0	.	14.0112	0.64498	0.1514:0.8486:0.0:0.0	.	131;131	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	F	131;131;48	ENSP00000323858:L131F;ENSP00000304072:L131F;ENSP00000448477:L48F	ENSP00000304072:L131F	L	-	3	2	DDX54	112101502	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	3.110000	0.50352	2.608000	0.88229	0.462000	0.41574	TTG	DDX54	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000123064		0.607	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DDX54	HGNC	protein_coding	OTTHUMT00000405435.1	-	0	45	0	C	NM_024072		113617119	-1	tier1	-	no_errors	ENST00000314045	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	113617119	C	G	113617119	3	3	71	1	0	0	0	0	1	0	0	0	4381	593	21	5	2323	5	DDX54	12	113617119	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	7156375	113617119	20234776	121	19252											
ZNF664	144348	genome.wustl.edu	37	chr12	124496969	124496969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctataaatgttacgagtgtgGcaaagccttcaattggagct	12	12	10	7	1	1	0	1	0	0	0	1	2	1	1	1	2	3	3	1	2	6	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:124496969G>A	ENST00000539644.1	+	6	2108	c.278G>A	c.(277-279)gGc>gAc	p.G93D	ZNF664_ENST00000538932.2_Missense_Mutation_p.G93D|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.G93D|ZNF664_ENST00000392404.3_Missense_Mutation_p.G93D			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TACGAGTGTGGCAAAGCCTTC	0.388																																																	0													75	85	81					12																	124496969		2203	4300	6503	SO:0001583	missense	0				CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"Zinc fingers, C2H2-type"	25406	protein-coding gene	gene with protein product			"zinc finger protein 176"	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.278G>A	12.37:g.124496969G>A	ENSP00000441405:p.Gly93Asp		B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G93D	ENST00000539644.1	37	c.278	CCDS9257.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722520	0.89298	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.01430	4.9;4.9;4.9;4.9	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000914	T	0.03695	0.0105	L	0.31845	0.965	0.49213	D	0.999768	D	0.59767	0.986	P	0.59643	0.861	T	0.56757	-0.7926	10	0.66056	D	0.02	-31.5921	14.7087	0.69211	0.0:0.0:1.0:0.0	.	93	Q8N3J9	ZN664_HUMAN	D	93;93;93;93;31	ENSP00000441405:G93D;ENSP00000376205:G93D;ENSP00000440645:G93D;ENSP00000337320:G93D	ENSP00000337320:G93D	G	+	2	0	ZNF664	123062922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.452000	0.66638	2.592000	0.87571	0.655000	0.94253	GGC	ZNF664	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179195		0.388	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF664	HGNC	protein_coding	OTTHUMT00000400365.1		0	46	0	G	NM_152437		124496969	1			no_errors	ENST00000337815	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	124496969	G	A	124496969	3	1	71	1	0	0	0	0	1	0	0	0	18120	1203	42	3	280	3	ZNF664	12	124496969	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	10879850	124496969	9354926	122	19253											
BRI3BP	140707	genome.wustl.edu	37	chr12	125509842	125509842	+	Missense_Mutation	SNP	A	A	G																															tgggcttctactggcgaagcAgtcccagcggccccagcaac																										TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:125509842A>G	ENST00000341446.8	+	3	713	c.622A>G	c.(622-624)Agt>Ggt	p.S208G		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CTGGCGAAGCAGTCCCAGCGG	0.642																																																	0													43	41	42					12																	125509842		2203	4300	6503	SO:0001583	missense	0			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.622A>G	12.37:g.125509842A>G	ENSP00000340761:p.Ser208Gly			Missense_Mutation	SNP	NULL	p.S208G	ENST00000341446.8	37	c.622	CCDS9262.1	12	.	.	.	.	.	.	.	.	.	.	a	3.684	-0.064933	0.07273	.	.	ENSG00000184992	ENST00000341446	.	.	.	4.46	-1.8	0.07907	.	0.334743	0.40144	N	0.001161	T	0.16557	0.0398	N	0.04090	-0.28	0.31566	N	0.656953	B	0.02656	0.0	B	0.04013	0.001	T	0.21484	-1.0244	9	0.19147	T	0.46	-13.5924	10.1349	0.42701	0.647:0.0:0.353:0.0	.	208	Q8WY22	BRI3B_HUMAN	G	208	.	ENSP00000340761:S208G	S	+	1	0	BRI3BP	124075795	0.662000	0.27439	0.741000	0.31004	0.723000	0.41478	0.511000	0.22739	-0.221000	0.09973	0.255000	0.18592	AGT	BRI3BP	-	NULL	ENSG00000184992		0.642	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3BP	HGNC	protein_coding	OTTHUMT00000400200.2		0	59	0	A	NM_080626		125509842	1			no_errors	ENST00000341446	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.704	G	G	125509842	A	G	125509842	3	3	71	1	0	0	0	0	1	0	0	0	1517	188	7	4	632	4	BRI3BP	12	125509842	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	1012873	125509842	8342053	123	19254	78	2									
BRI3BP	140707	genome.wustl.edu	37	chr12	125509844	125509844	+	Silent	SNP	T	T	C																															ggcttctactggcgaagcagTcccagcggccccagcaaccc																										TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:125509844T>C	ENST00000341446.8	+	3	715	c.624T>C	c.(622-624)agT>agC	p.S208S		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		GGCGAAGCAGTCCCAGCGGcc	0.642																																																	0													42	41	41					12																	125509844		2203	4300	6503	SO:0001819	synonymous_variant	0			AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.624T>C	12.37:g.125509844T>C				Silent	SNP	NULL	p.S208	ENST00000341446.8	37	c.624	CCDS9262.1	12																																																																																			BRI3BP	-	NULL	ENSG00000184992		0.642	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRI3BP	HGNC	protein_coding	OTTHUMT00000400200.2		0	57	0	T	NM_080626		125509844	1			no_errors	ENST00000341446	ensembl	human	known	74_37	silent	10.45	60	7	SNP	0.982	C	C	125509844	T	C	125509844	2	2	71	1	0	0	0	0	0	0	0	1	1517	1664	58	4		4	BRI3BP	12	125509844	Silent	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	2	125509844	8342051	124	19255	78	2									
AACS	65985	genome.wustl.edu	37	chr12	125591812	125591812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcatggtgcattccgctGgggtaggtctctggggaagg	6	10	18	7	1	1	0	0	0	1	0	3	1	2	1	1	7	2	4	1	7	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:125591812G>T	ENST00000316519.6	+	8	1119	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W	AACS_ENST00000261686.6_Missense_Mutation_p.G305W|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	305					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCATTCCGCTGGGGTAGGTCT	0.597																																																	0													60	55	57					12																	125591812		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"Acyl-CoA synthetase family"	21298	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 1"	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.913G>T	12.37:g.125591812G>T	ENSP00000324842:p.Gly305Trp		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.G305W	ENST00000316519.6	37	c.913	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260643	0.80246	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537564;ENST00000441247	T;T;T	0.54479	2.64;2.64;0.57	5.45	5.45	0.79879	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.82282	0.5003	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87975	0.2739	10	0.87932	D	0	.	18.8781	0.92346	0.0:0.0:1.0:0.0	.	305;305	Q86V21-2;Q86V21	.;AACS_HUMAN	W	305;305;161;86;124	ENSP00000324842:G305W;ENSP00000261686:G305W;ENSP00000392967:G124W	ENSP00000261686:G305W	G	+	1	0	AACS	124157765	1.000000	0.71417	0.954000	0.39281	0.538000	0.34931	8.899000	0.92544	2.542000	0.85734	0.561000	0.74099	GGG	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.597	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1		0	41	0	G	NM_023928		125591812	1			no_errors	ENST00000316519	ensembl	human	known	74_37	missense	6.06	30	2	SNP	1.000	T	T	125591812	G	T	125591812	3	4	71	1	0	0	0	0	1	0	0	0	9	1348	47	3	943	3	AACS	12	125591812	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	81968	125591812	8260083	125	19256											
ULK1	8408	genome.wustl.edu	37	chr12	132405711	132405712	+	Missense_Mutation	DNP	GC	GC	TT																															gcgtcccacgctaccacaagGccctgctgctcctggagggg																										TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr12:132405711_132405712GC>TT	ENST00000321867.4	+	27	3379_3380	c.3028_3029GC>TT	c.(3028-3030)GCc>TTc	p.A1010F	ULK1_ENST00000540647.1_Missense_Mutation_p.A255F	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1010					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACCACAAGGCCCTGCTGCTC	0.683																																																	0																																										SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"ATG1 autophagy related 1 homolog (S. cerevisiae)"	603168	"unc-51 (C. elegans)-like kinase 1", "unc-51-like kinase 1 (C. elegans)"			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	Exception_encountered	12.37:g.132405711_132405712delinsTT	ENSP00000324560:p.Ala1010Phe		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A1010S|p.A1010V	ENST00000321867.4	37	c.3028|c.3029	CCDS9274.1	12																																																																																			ULK1	-	pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.683	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	-	0	18|17	0	G|C			132405711|132405712	1	tier1	-	no_errors	ENST00000321867	ensembl	human	known	74_37	missense	23.81|22.73	16|17	5	SNP	1.000|0.999	T	TT	132405712	GC	TT	132405711	3	4	71	1	0	0	0	0	1	0	0	0	17024	1203	42	3	3134	3	ULK1	12	132405711	Missense_Mutation	DNP	GC	TCGA-L5-A88S-01A-11D-A36J-09	6813899	132405711	1446184	126	19257											
N4BP2L2	10443	genome.wustl.edu	37	chr13	33091950	33091950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagctaatttaatgattatTtgtgacacagacacgattat	15	15	6	5	1	0	3	0	2	0	1	0	4	0	3	0	0	1	1	0	0	5	7	rs138840363		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr13:33091950T>C	ENST00000267068.3	-	6	1905	c.1741A>G	c.(1741-1743)Aat>Gat	p.N581D	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	581					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.N581H(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TAATGATTATTTGTGACACAG	0.408																																																	1	Substitution - Missense(1)	lung(1)						T	ASP/ASN,	1,4403	2.1+/-5.4	0,1,2201	104	100	101		1741,	-6	0	13	dbSNP_134	101	0,8600		0,0,4300	no	missense,intron	N4BP2L2	NM_014887.2,NM_033111.3	23,	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,	581/584,	33091950	1,13003	2202	4300	6502	SO:0001583	missense	0			U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"phosphonoformate immuno-associated protein 5"	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000267068.3:c.1741A>G	13.37:g.33091950T>C	ENSP00000267068:p.Asn581Asp		A3KME8	Missense_Mutation	SNP	pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase	p.N581D	ENST00000267068.3	37	c.1741	CCDS9346.1	13	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.819274	0.00595	2.27E-4	0.0	ENSG00000244754	ENST00000267068	T	0.41065	1.01	5.53	-6.02	0.02192	.	.	.	.	.	T	0.11922	0.0290	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	9	0.02654	T	1	.	3.7626	0.08610	0.1117:0.3996:0.1152:0.3735	.	581	Q92802	N42L2_HUMAN	D	581	ENSP00000267068:N581D	ENSP00000267068:N581D	N	-	1	0	N4BP2L2	31989950	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.276000	0.02815	-1.202000	0.02655	-0.280000	0.10049	AAT	N4BP2L2	-	NULL	ENSG00000244754		0.408	N4BP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2L2	HGNC	protein_coding	OTTHUMT00000044421.1		0	69	0	T	NM_014887		33091950	-1			no_errors	ENST00000267068	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.000	C	C	33091950	T	C	33091950	3	2	71	1	0	0	0	0	1	0	0	0	10150	1841	64	4	1875	4	N4BP2L2	13	33091950	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09		33091950	82077928	127	19258											
TBC1D4	9882	genome.wustl.edu	37	chr13	76055775	76055775	+	Frame_Shift_Del	DEL	C	C	-																															gtcctgtggtccaggcacgaCcccccaacgtaccacagccg																										TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr13:76055775delC	ENST00000377636.3	-	1	475	c.129delG	c.(127-129)gggfs	p.G43fs	TBC1D4_ENST00000377625.2_Frame_Shift_Del_p.G43fs|TBC1D4_ENST00000431480.2_Frame_Shift_Del_p.G43fs|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	43					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCAGGCACGACCCCCCAACGT	0.726																																																	0													12	15	14					13																	76055775		1942	4146	6088	SO:0001589	frameshift_variant	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.129delG	13.37:g.76055775delC	ENSP00000366863:p.Gly43fs		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.S44fs	ENST00000377636.3	37	c.129	CCDS41901.1	13																																																																																			TBC1D4	-	smart_PTB/PI_dom	ENSG00000136111		0.726	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1		0	48	0	C	NM_014832		76055775	-1	tier1		no_errors	ENST00000377636	ensembl	human	known	74_37	frame_shift_del	43.24	21	16	DEL	1.000	-	-	76055775	C	-	76055775	7	5	71	1	0	1	0	1	0	0	0	0	15669	494	18	0	3851	0	TBC1D4	13	76055775	Frame_Shift_Del	DEL	C	TCGA-L5-A88S-01A-11D-A36J-09	42963825	76055775	39114103	128	19259											
TEP1	7011	genome.wustl.edu	37	chr14	20844365	20844365	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtgccacagggaaagtcTtctgccttgtgtggccgcgt	6	11	13	11	2	3	0	1	0	2	0	3	1	3	1	3	2	2	0	3	2	1	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr14:20844365T>C	ENST00000262715.5	-	42	6187	c.6147A>G	c.(6145-6147)gaA>gaG	p.E2049E	TEP1_ENST00000556935.1_Silent_p.E1941E|TEP1_ENST00000545983.1_Silent_p.E387E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2049					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGGGAAAGTCTTCTGCCTTGT	0.597																																																	0													58	58	58					14																	20844365		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"WD repeat domain containing"	11726	protein-coding gene	gene with protein product	"TROVE domain family, member 1"	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6147A>G	14.37:g.20844365T>C			A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2049	ENST00000262715.5	37	c.6147	CCDS9548.1	14																																																																																			TEP1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000129566		0.597	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	-	0	35	0	T	NM_007110		20844365	-1	tier1	-	no_errors	ENST00000262715	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.002	C	C	20844365	T	C	20844365	2	2	71	1	0	0	0	0	0	0	0	1	15806	1606	56	4		4	TEP1	14	20844365	Silent	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09		20844365	86505175	129	19260											
RTL1	388015	genome.wustl.edu	37	chr14	101349583	101349583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctttgatccagtcgacttCgggggcgtggactcggagcc	5	9	15	12	4	0	1	0	1	0	0	4	4	1	3	3	4	1	0	3	4	0	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr14:101349583C>T	ENST00000534062.1	-	1	1601	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	MIR433_ENST00000384837.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR432_ENST00000606207.1_RNA|MIR136_ENST00000385207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	515					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CAGTCGACTTCGGGGGCGTGG	0.597																																																	0													37	40	39					14																	101349583		692	1591	2283	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1543G>A	14.37:g.101349583C>T	ENSP00000435342:p.Glu515Lys		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.E515K	ENST00000534062.1	37	c.1543	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	7.559	0.664290	0.14710	.	.	ENSG00000254656	ENST00000534062	T	0.22945	1.93	3.83	3.83	0.44106	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	P	0.43352	0.804	B	0.25140	0.058	T	0.05954	-1.0854	9	0.09338	T	0.73	.	9.7169	0.40281	0.0:0.7888:0.2112:0.0	.	515	E9PKS8	.	K	515	ENSP00000435342:E515K	ENSP00000435342:E515K	E	-	1	0	RTL1	100419336	0.292000	0.24362	0.052000	0.19188	0.627000	0.37826	1.779000	0.38624	2.435000	0.82474	0.655000	0.94253	GAA	RTL1	-	superfamily_Peptidase_aspartic_dom	ENSG00000254656		0.597	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0	63	0	C	NM_001134888		101349583	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	17.07	68	14	SNP	0.102	T	T	101349583	C	T	101349583	3	4	71	1	0	0	0	0	1	0	0	0	13769	893	31	1	2537	1	RTL1	14	101349583	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	80505218	101349583	5999957	130	19261											
THSD4	79875	genome.wustl.edu	37	chr15	72063512	72063512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaaccagaagagagagAatcttgtaaccctcaggact	15	8	10	8	0	2	4	1	1	1	3	2	7	2	5	2	1	2	2	2	1	4	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:72063512A>G	ENST00000355327.3	+	17	3013	c.2879A>G	c.(2878-2880)gAa>gGa	p.E960G	THSD4_ENST00000261862.6_Missense_Mutation_p.E960G|THSD4_ENST00000357769.4_Missense_Mutation_p.E600G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	960	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAAGAGAGAGAATCTTGTAAC	0.483																																																	0													145	139	141					15																	72063512		1870	4101	5971	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2879A>G	15.37:g.72063512A>G	ENSP00000347484:p.Glu960Gly		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.E960G	ENST00000355327.3	37	c.2879	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612797	0.87258	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.58210	0.35;0.35;0.35	5.05	5.05	0.67936	.	.	.	.	.	T	0.73297	0.3569	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.77542	-0.2549	9	0.66056	D	0.02	.	12.7715	0.57423	1.0:0.0:0.0:0.0	.	600;960	B4DR13;Q6ZMP0	.;THSD4_HUMAN	G	960;960;600	ENSP00000347484:E960G;ENSP00000261862:E960G;ENSP00000350413:E600G	ENSP00000261862:E960G	E	+	2	0	THSD4	69850566	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	9.122000	0.94380	1.907000	0.55213	0.455000	0.32223	GAA	THSD4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.483	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0	113	0	A	NM_024817		72063512	1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	23.28	89	27	SNP	1.000	G	G	72063512	A	G	72063512	3	3	71	1	0	0	0	0	1	0	0	0	15925	246	9	4	2941	4	THSD4	15	72063512	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09		72063512	30467880	131	19262											
CSK	1445	genome.wustl.edu	37	chr15	75094182	75094182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccagcacccaggacaCgggcaagctgccagtcaagt	10	4	13	14	2	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	2	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:75094182C>T	ENST00000220003.9	+	11	1763	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CSK_ENST00000567571.1_Missense_Mutation_p.T345M|CSK_ENST00000309470.9_Missense_Mutation_p.T345M|CSK_ENST00000439220.2_Missense_Mutation_p.T345M	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	345	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						ACCCAGGACACGGGCAAGCTG	0.647																																																	0													37	38	38					15																	75094182		2197	4296	6493	SO:0001583	missense	0				CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"SH2 domain containing"	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.1034C>T	15.37:g.75094182C>T	ENSP00000220003:p.Thr345Met		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.T345M	ENST00000220003.9	37	c.1034	CCDS10269.1	15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306573	0.81247	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	D;D;D	0.82984	-1.67;-1.67;-1.67	4.62	4.62	0.57501	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.38531	1.155	0.80722	D	1	D	0.64830	0.994	P	0.62184	0.899	D	0.88064	0.2796	10	0.87932	D	0	-16.1395	17.2222	0.86960	0.0:1.0:0.0:0.0	.	345	P41240	CSK_HUMAN	M	345;345;294;345	ENSP00000220003:T345M;ENSP00000414764:T345M;ENSP00000438808:T345M	ENSP00000220003:T345M	T	+	2	0	CSK	72881235	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	3.786000	0.55431	2.395000	0.81488	0.561000	0.74099	ACG	CSK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000103653		0.647	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSK	HGNC	protein_coding	OTTHUMT00000286398.2	-	0	27	0	C	NM_004383		75094182	1	tier1	-	no_errors	ENST00000220003	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	75094182	C	T	75094182	3	4	71	1	0	0	0	0	1	0	0	0	3952	536	19	1	1072	1	CSK	15	75094182	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	3030670	75094182	27437210	132	19263											
SIN3A	25942	genome.wustl.edu	37	chr15	75693273	75693273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaccaattaaacaactcaGggaatttcctgaagaatcaa	19	9	5	8	0	2	2	2	1	0	1	3	3	3	3	2	1	3	0	2	1	10	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:75693273G>T	ENST00000394947.3	-	11	1849	c.1535C>A	c.(1534-1536)cCt>cAt	p.P512H	SIN3A_ENST00000360439.4_Missense_Mutation_p.P512H|SIN3A_ENST00000394949.4_Missense_Mutation_p.P512H	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AAACAACTCAGGGAATTTCCT	0.418																																																	0													44	44	44					15																	75693273		2197	4294	6491	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1535C>A	15.37:g.75693273G>T	ENSP00000378402:p.Pro512His			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.P512H	ENST00000394947.3	37	c.1535	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783303	0.90282	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.52754	0.65;0.65;0.65	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79186	-0.1907	10	0.87932	D	0	-15.4982	19.2837	0.94061	0.0:0.0:1.0:0.0	.	512	Q96ST3	SIN3A_HUMAN	H	512	ENSP00000378402:P512H;ENSP00000378403:P512H;ENSP00000353622:P512H	ENSP00000353622:P512H	P	-	2	0	SIN3A	73480326	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.867000	0.99620	2.805000	0.96524	0.460000	0.39030	CCT	SIN3A	-	pfam_PAH,superfamily_PAH	ENSG00000169375		0.418	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	-	0	63	0	G	NM_015477		75693273	-1	tier1	-	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T	T	75693273	G	T	75693273	3	4	71	1	0	0	0	0	1	0	0	0	14370	1000	35	3	2330	3	SIN3A	15	75693273	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	599091	75693273	26838119	133	19264											
ALPK3	57538	genome.wustl.edu	37	chr15	85400870	85400870	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaactacctgcttctgctGctgaagctgtccagcacaga	11	9	9	12	0	1	3	0	1	1	2	2	3	2	3	2	0	7	5	2	0	4	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr15:85400870G>T	ENST00000258888.5	+	6	3674	c.3507G>T	c.(3505-3507)ctG>ctT	p.L1169L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1169	Poly-Leu.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCTTCTGCTGCTGAAGCTGT	0.647																																																	0													43	49	47					15																	85400870		2203	4299	6502	SO:0001819	synonymous_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3507G>T	15.37:g.85400870G>T			Q9P2L6	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.L1169	ENST00000258888.5	37	c.3507	CCDS10333.1	15																																																																																			ALPK3	-	NULL	ENSG00000136383		0.647	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	47	0	G	NM_020778		85400870	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.934	T	T	85400870	G	T	85400870	2	4	71	1	0	0	0	0	0	0	0	1	546	1306	46	3		3	ALPK3	15	85400870	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	9707597	85400870	17130522	134	19265											
LMF1	64788	genome.wustl.edu	37	chr16	919016	919016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcgtcgctggccaggagcTtgccagccaggtggatgatc	6	7	16	12	3	0	1	0	1	0	0	2	3	0	3	3	5	3	2	3	5	0	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:919016T>C	ENST00000262301.11	-	10	1475	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	LMF1_ENST00000568897.1_Missense_Mutation_p.K269R|LMF1_ENST00000568268.1_5'Flank|LMF1_ENST00000543238.1_Missense_Mutation_p.K249R|LMF1_ENST00000399843.2_Missense_Mutation_p.K486R	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	486					chylomicron remnant clearance (GO:0034382)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein glycosylation in Golgi (GO:0033578)|protein maturation (GO:0051604)|protein secretion (GO:0009306)|regulation of cholesterol metabolic process (GO:0090181)|regulation of triglyceride metabolic process (GO:0090207)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GGCCAGGAGCTTGCCAGCCAG	0.687																																																	0													76	91	86					16																	919016		2129	4237	6366	SO:0001583	missense	0			AK022743	CCDS45373.1	16p13.3	2008-02-05	2007-11-29	2007-11-29	ENSG00000103227	ENSG00000103227			14154	protein-coding gene	gene with protein product		611761	"chromosome 16 open reading frame 26", "transmembrane protein 112"	C16orf26, TMEM112		11157797, 17994020	Standard	NM_022773		Approved	FLJ12681, JFP11, FLJ22302, TMEM112A	uc021tae.1	Q96S06	OTTHUMG00000047848	ENST00000262301.11:c.1457A>G	16.37:g.919016T>C	ENSP00000262301:p.Lys486Arg		Q68CJ3|Q96FJ4|Q9H6G4|Q9H9K7	Missense_Mutation	SNP	pfam_LMF	p.K486R	ENST00000262301.11	37	c.1457	CCDS45373.1	16	.	.	.	.	.	.	.	.	.	.	T	9.388	1.074817	0.20227	.	.	ENSG00000103227	ENST00000262301;ENST00000399843;ENST00000540070;ENST00000545827;ENST00000543238	T;T;T	0.21361	2.01;2.01;2.01	4.69	2.43	0.29744	.	0.121832	0.56097	N	0.000040	T	0.12475	0.0303	N	0.16368	0.405	0.80722	D	1	B	0.21606	0.058	B	0.26969	0.075	T	0.11060	-1.0603	10	0.42905	T	0.14	-12.1911	7.9418	0.29963	0.0:0.1743:0.0:0.8257	.	486	Q96S06	LMF1_HUMAN	R	486;486;269;240;249	ENSP00000262301:K486R;ENSP00000382737:K486R;ENSP00000437418:K249R	ENSP00000262301:K486R	K	-	2	0	LMF1	859017	1.000000	0.71417	0.991000	0.47740	0.126000	0.20510	2.299000	0.43611	0.190000	0.20209	0.459000	0.35465	AAG	LMF1	-	pfam_LMF	ENSG00000103227		0.687	LMF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LMF1	HGNC	protein_coding	OTTHUMT00000109071.3	-	0	46	0	T	NM_022773		919016	-1	tier1	-	no_errors	ENST00000262301	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	C	C	919016	T	C	919016	3	2	71	1	0	0	0	0	1	0	0	0	8875	1609	56	4	254	4	LMF1	16	919016	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09		919016	89435737	135	19266											
HCFC1R1	54985	genome.wustl.edu	37	chr16	3073311	3073311	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgcaggctgagttgagaGaagtgggtggccatgttctc	7	12	16	6	0	1	3	0	2	1	1	2	4	1	3	1	3	1	4	1	3	1	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:3073311G>A	ENST00000248089.3	-	3	508	c.204C>T	c.(202-204)ttC>ttT	p.F68F	THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|HCFC1R1_ENST00000354679.3_Silent_p.F66F|THOC6_ENST00000575576.1_5'Flank|THOC6_ENST00000253952.9_5'Flank|HCFC1R1_ENST00000396916.1_Silent_p.F68F|HCFC1R1_ENST00000572355.1_Silent_p.F28F|HCFC1R1_ENST00000574980.1_Silent_p.F68F|HCFC1R1_ENST00000574151.1_Silent_p.F49F	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	68						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						TGAGTTGAGAGAAGTGGGTGG	0.617																																																	0													108	110	110					16																	3073311		2198	4300	6498	SO:0001819	synonymous_variant	0			AK000575	CCDS10490.1, CCDS32375.1, CCDS73815.1	16p13.3	2008-02-05	2005-12-01			ENSG00000103145			21198	protein-coding gene	gene with protein product			"host cell factor C1 regulator 1 (XPO1 dependant)"			12235138	Standard	NM_001002018		Approved	HPIP, FLJ20568	uc002csy.1	Q9NWW0		ENST00000248089.3:c.204C>T	16.37:g.3073311G>A			D3DUA7|Q68EN7	Silent	SNP	NULL	p.F68	ENST00000248089.3	37	c.204	CCDS10490.1	16																																																																																			HCFC1R1	-	NULL	ENSG00000103145		0.617	HCFC1R1-001	KNOWN	basic|CCDS	protein_coding	HCFC1R1	HGNC	protein_coding	OTTHUMT00000436969.1	-	0	30	0	G	NM_017885		3073311	-1	tier1	-	no_errors	ENST00000248089	ensembl	human	known	74_37	silent	29.73	26	11	SNP	1.000	A	A	3073311	G	A	3073311	2	1	71	1	0	0	0	0	0	0	0	1	7019	933	33	3		3	HCFC1R1	16	3073311	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	2154295	3073311	87281442	136	19267											
NSMCE1	197370	genome.wustl.edu	37	chr16	27237089	27237089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttgcagtgggggcagcGcggttcagcattcgactgga	6	9	17	9	4	1	0	1	0	0	0	3	2	1	1	0	4	3	5	0	4	0	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:27237089G>A	ENST00000361439.4	-	7	778	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	227					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TGGGGGCAGCGCGGTTCAGCA	0.617																																																	0													59	66	64					16																	27237089		2039	4188	6227	SO:0001583	missense	0			AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.679C>T	16.37:g.27237089G>A	ENSP00000355077:p.Arg227Cys		D3DWF6|Q9P045|Q9P049	Missense_Mutation	SNP	pfam_Nse1,pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	p.R227C	ENST00000361439.4	37	c.679	CCDS10628.2	16	.	.	.	.	.	.	.	.	.	.	G	7.938	0.742241	0.15642	.	.	ENSG00000169189	ENST00000361439	T	0.68479	-0.33	5.42	4.46	0.54185	Zinc finger, RING-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, RING-like (1);	0.857296	0.10649	N	0.650088	T	0.62245	0.2412	L	0.56769	1.78	0.09310	N	1	P	0.34629	0.46	B	0.22152	0.038	T	0.54282	-0.8317	10	0.51188	T	0.08	.	14.9898	0.71377	0.0:0.1433:0.8567:0.0	.	227	Q8WV22	NSE1_HUMAN	C	227	ENSP00000355077:R227C	ENSP00000355077:R227C	R	-	1	0	NSMCE1	27144590	0.934000	0.31675	0.020000	0.16555	0.068000	0.16541	5.952000	0.70282	1.265000	0.44215	0.561000	0.74099	CGC	NSMCE1	-	pfam_Znf_RING-like,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Znf_RING	ENSG00000169189		0.617	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMCE1	HGNC	protein_coding	OTTHUMT00000254577.3	-	0	78	0	G	NM_145080		27237089	-1	tier1	-	no_errors	ENST00000361439	ensembl	human	known	74_37	missense	23.30	79	24	SNP	0.044	A	A	27237089	G	A	27237089	3	1	71	1	0	0	0	0	1	0	0	0	10714	1087	38	1	129	1	NSMCE1	16	27237089	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	24163778	27237089	63117664	137	19268											
ABCC12	94160	genome.wustl.edu	37	chr16	48125057	48125057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattccctgagcagctccaCggaggtgaatttggcttgcg	7	11	13	10	2	0	2	0	2	0	0	2	3	2	3	2	3	3	4	2	3	2	4	rs367887492		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:48125057C>T	ENST00000311303.3	-	23	3604	c.3259G>A	c.(3259-3261)Gtg>Atg	p.V1087M	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1087						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGCAGCTCCACGGAGGTGAAT	0.502																																																	0													164	157	160					16																	48125057		2201	4300	6501	SO:0001583	missense	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3259G>A	16.37:g.48125057C>T	ENSP00000311030:p.Val1087Met		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V1087M	ENST00000311303.3	37	c.3259	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016013	0.54468	.	.	ENSG00000140798	ENST00000311303	D	0.92048	-2.96	5.74	4.78	0.61160	ABC transporter, transmembrane domain, type 1 (1);	0.127721	0.52532	D	0.000076	D	0.94791	0.8318	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.94901	0.8056	10	0.87932	D	0	.	11.7282	0.51722	0.0:0.9174:0.0:0.0826	.	1087	Q96J65	MRP9_HUMAN	M	1087	ENSP00000311030:V1087M	ENSP00000311030:V1087M	V	-	1	0	ABCC12	46682558	0.985000	0.35326	0.811000	0.32455	0.126000	0.20510	2.710000	0.47169	1.419000	0.47118	0.563000	0.77884	GTG	ABCC12	-	superfamily_ABC1_TM_dom	ENSG00000140798		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1		0	51	0	C	NM_033226		48125057	-1			no_errors	ENST00000311303	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.996	T	T	48125057	C	T	48125057	3	4	71	1	0	0	0	0	1	0	0	0	52	536	19	1	848	1	ABCC12	16	48125057	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	20887968	48125057	42229696	138	19269											
RPGRIP1L	23322	genome.wustl.edu	37	chr16	53652936	53652936	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttacaaatgaatcatacataCcattgctatagttatagtag	16	14	5	6	0	1	1	1	1	0	0	1	1	1	1	1	0	4	3	1	0	10	9			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:53652936C>A	ENST00000379925.3	-	24	3667		c.e24+1		RPGRIP1L_ENST00000262135.4_Splice_Site|RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like						camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCATACATACCATTGCTATA	0.353																																																	0													88	88	88					16																	53652936		2198	4300	6498	SO:0001630	splice_region_variant	0				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"fantom homolog", "Meckel syndrome, type 5", "protein phosphatase 1, regulatory subunit 134"	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3616+1G>T	16.37:g.53652936C>A			A0PJ88|Q9Y2K8	Splice_Site	SNP	-	e23+1	ENST00000379925.3	37	c.3616+1	CCDS32447.1	16	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273540	0.23221	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3325	0.98724	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPGRIP1L	52210437	1.000000	0.71417	0.999000	0.59377	0.186000	0.23388	5.925000	0.70062	2.805000	0.96524	0.655000	0.94253	.	RPGRIP1L	-	-	ENSG00000103494		0.353	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	RPGRIP1L	HGNC	protein_coding	OTTHUMT00000422187.1	-	0	59	0	C	NM_015272	Intron	53652936	-1	tier1	-	no_errors	ENST00000379925	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	A	A	53652936	C	A	53652936	5	1	71	1	0	0	0	0	0	0	1	0	13595	521	18	3	346	3	RPGRIP1L	16	53652936	Splice_Site	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	5527879	53652936	36701817	139	19270											
VPS4A	27183	genome.wustl.edu	37	chr16	69353364	69353364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctacctggccaaagccGtggcaacagaggccaacaac	14	4	9	14	1	0	1	0	0	0	1	1	1	1	1	5	3	5	1	5	3	6	1	rs573192094		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:69353364G>A	ENST00000254950.11	+	6	694	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.V204M	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				GGCCAAAGCCGTGGCAACAGA	0.582																																																	0													55	60	59					16																	69353364		2019	4178	6197	SO:0001583	missense	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.538G>A	16.37:g.69353364G>A	ENSP00000254950:p.Val180Met			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.V180M	ENST00000254950.11	37	c.538	CCDS45517.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.208627	0.95069	.	.	ENSG00000132612	ENST00000254950	D	0.95307	-3.67	6.06	6.06	0.98353	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.97286	0.9921	10	0.87932	D	0	-29.0773	20.2159	0.98296	0.0:0.0:1.0:0.0	.	180	Q9UN37	VPS4A_HUMAN	M	180	ENSP00000254950:V180M	ENSP00000254950:V180M	V	+	1	0	VPS4A	67910865	1.000000	0.71417	0.983000	0.44433	0.874000	0.50279	9.858000	0.99539	2.882000	0.98803	0.655000	0.94253	GTG	VPS4A	-	pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000132612		0.582	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0	61	0	G	NM_013245		69353364	1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	69353364	G	A	69353364	3	1	71	1	0	0	0	0	1	0	0	0	17261	1145	40	1	560	1	VPS4A	16	69353364	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	15700428	69353364	21001389	140	19271											
CTU2	9780	genome.wustl.edu	37	chr16	88779139	88779139	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcagcagcatgtgcTgggggccgggggtggtcctg	4	7	18	12	1	0	0	0	0	0	0	2	0	2	0	4	5	4	4	4	5	0	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:88779139T>C	ENST00000301015.9	-	0	8072				CTU2_ENST00000312060.5_Missense_Mutation_p.L188P|CTU2_ENST00000453996.2_Missense_Mutation_p.L188P|CTU2_ENST00000567949.1_Missense_Mutation_p.L259P|CTU2_ENST00000378384.3_Missense_Mutation_p.L101P	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						CAGCATGTGCTGGGGGCCGGG	0.706																																																	0													16	21	19					16																	88779139		2186	4291	6477	SO:0001628	intergenic_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"family with sequence similarity 38, member A"	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776		16.37:g.88779139T>C			A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_Thiouridylase_cyt_su2	p.L259P	ENST00000301015.9	37	c.776	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440702	0.43326	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.19938	2.11;2.36;2.37	4.22	0.103	0.14526	.	0.784752	0.11045	N	0.605670	T	0.27731	0.0682	L	0.51422	1.61	0.28038	N	0.933857	D;D;P	0.63880	0.993;0.958;0.93	P;P;P	0.59487	0.858;0.563;0.564	T	0.17806	-1.0357	10	0.30854	T	0.27	.	3.5429	0.07818	0.2807:0.2245:0.0:0.4948	.	101;188;188	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	P	101;188;188	ENSP00000367635:L101P;ENSP00000308617:L188P;ENSP00000388320:L188P	ENSP00000308617:L188P	L	+	2	0	CTU2	87306640	0.003000	0.15002	0.014000	0.15608	0.012000	0.07955	0.126000	0.15769	0.112000	0.17975	-0.417000	0.06048	CTG	CTU2	-	NULL	ENSG00000174177		0.706	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000345699.4	-	0	47	0	T	NM_014745		88779139	1	tier1	-	no_errors	ENST00000567949	ensembl	human	known	74_37	missense	10.53	33	4	SNP	0.009	C	C	88779139	T	C	88779139	1	2	71	0	1	0	0	0	0	0	0	0	4057	1580	55	4		4	CTU2	16	88779139	IGR	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	19425775	88779139	1575614	141	19272											
FANCA	2175	genome.wustl.edu	37	chr16	89837003	89837003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacactggaggcagccaTcaggttctgacagaaagacg	13	5	13	10	2	2	3	1	1	1	2	2	5	2	4	1	3	2	2	1	3	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:89837003T>C	ENST00000389301.3	-	24	2221	c.2191A>G	c.(2191-2193)Atg>Gtg	p.M731V	FANCA_ENST00000568369.1_Missense_Mutation_p.M731V|FANCA_ENST00000567284.2_5'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	731					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAGGCAGCCATCAGGTTCTGA	0.637			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"Fanconi anemia, complementation group A"		L	0													59	44	49					16																	89837003		2198	4299	6497	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"Fanconi anemia, complementation groups"	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2191A>G	16.37:g.89837003T>C	ENSP00000373952:p.Met731Val		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.M731V	ENST00000389301.3	37	c.2191	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	T	7.044	0.563098	0.13498	.	.	ENSG00000187741	ENST00000389301	D	0.84070	-1.8	4.9	3.73	0.42828	.	0.125717	0.49305	D	0.000152	T	0.77136	0.4086	L	0.60455	1.87	0.18873	N	0.999987	B;B	0.14438	0.01;0.01	B;B	0.10450	0.005;0.005	T	0.67082	-0.5760	10	0.49607	T	0.09	-23.6825	6.6297	0.22849	0.0:0.1284:0.0:0.8716	.	731;731	B4DRI7;O15360	.;FANCA_HUMAN	V	731	ENSP00000373952:M731V	ENSP00000373952:M731V	M	-	1	0	FANCA	88364504	0.030000	0.19436	0.019000	0.16419	0.505000	0.33919	0.653000	0.24902	0.751000	0.32900	0.454000	0.30748	ATG	FANCA	-	NULL	ENSG00000187741		0.637	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	-	0	90	0	T			89837003	-1	tier1	-	no_errors	ENST00000389301	ensembl	human	known	74_37	missense	5.21	91	5	SNP	0.040	C	C	89837003	T	C	89837003	3	2	71	1	0	0	0	0	1	0	0	0	5684	1435	50	4	2256	4	FANCA	16	89837003	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	1057864	89837003	517750	142	19273											
SPIRE2	84501	genome.wustl.edu	37	chr16	89924827	89924827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaacctgtcagtcacagAtgctgggggcagcgcccagc	9	6	12	14	1	3	1	3	0	0	1	3	1	3	1	2	2	4	2	2	2	1	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr16:89924827A>G	ENST00000378247.3	+	8	1227	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	SPIRE2_ENST00000393062.2_Missense_Mutation_p.D395G	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	395					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCAGTCACAGATGCTGGGGGC	0.622																																																	0													66	72	70					16																	89924827		2198	4299	6497	SO:0001583	missense	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"spire homolog 2 (Drosophila)", "spire family actin nucleation factor 2"			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1184A>G	16.37:g.89924827A>G	ENSP00000367494:p.Asp395Gly		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.D395G	ENST00000378247.3	37	c.1184	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	A	10.76	1.440903	0.25900	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.43294	0.95;0.95	5.55	4.25	0.50352	.	0.396597	0.29745	N	0.011307	T	0.26484	0.0647	N	0.16233	0.39	0.31016	N	0.718688	B;B;B;B	0.17268	0.003;0.021;0.005;0.004	B;B;B;B	0.16722	0.004;0.016;0.006;0.004	T	0.16129	-1.0413	10	0.34782	T	0.22	-17.1072	10.964	0.47401	0.9128:0.0:0.0872:0.0	.	262;395;347;395	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	G	395	ENSP00000367494:D395G;ENSP00000376782:D395G	ENSP00000367494:D395G	D	+	2	0	SPIRE2	88452328	0.070000	0.21116	0.020000	0.16555	0.066000	0.16364	0.552000	0.23376	2.118000	0.64928	0.533000	0.62120	GAT	SPIRE2	-	NULL	ENSG00000204991		0.622	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	-	0	86	0	A	XM_047462		89924827	1	tier1	-	no_errors	ENST00000378247	ensembl	human	known	74_37	missense	14.13	79	13	SNP	0.107	G	G	89924827	A	G	89924827	3	3	71	1	0	0	0	0	1	0	0	0	15119	333	12	4	1214	4	SPIRE2	16	89924827	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	87824	89924827	429926	143	19274											
TP53	7157	genome.wustl.edu	37	chr17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtttcttctttggctGgggagaggagctggtgttgt	4	15	17	5	0	2	1	0	0	2	1	2	3	2	2	0	6	1	4	0	6	0	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTTTGGCTGGGGAGAGGAG	0.473		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	46	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	breast(7)|large_intestine(5)|skin(4)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|ovary(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(1)											129	119	122					17																	7576897		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.949C>T	17.37:g.7576897G>A	ENSP00000269305:p.Gln317*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Q317*	ENST00000269305.4	37	c.949	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032676	0.93575	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.96	2.84	0.33178	.	1.146690	0.06159	N	0.675692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.0856	5.403	0.16306	0.1029:0.0:0.6855:0.2116	.	.	.	.	X	317;317;317;317;317;306;185	.	ENSP00000269305:Q317X	Q	-	1	0	TP53	7517622	0.001000	0.12720	0.022000	0.16811	0.871000	0.50021	0.741000	0.26202	1.318000	0.45170	0.561000	0.74099	CAG	TP53	-	NULL	ENSG00000141510		0.473	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	103	0	G	NM_000546		7576897	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	44.57	51	41	SNP	0.012	A	A	7576897	G	A	7576897	4	1	71	1	0	0	0	0	0	1	0	0	16429	1357	47	3	333	3	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09		7576897	73618313	144	19275											
MYH1	4619	genome.wustl.edu	37	chr17	10415473	10415473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctttgagcagatctgcaGagttcagattttggagatag	10	12	14	5	0	2	5	1	1	1	4	2	6	2	5	0	2	2	4	0	2	1	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:10415473G>C	ENST00000226207.5	-	13	1278	c.1184C>G	c.(1183-1185)tCt>tGt	p.S395C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	395	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAGATCTGCAGAGTTCAGATT	0.473																																																	0													211	198	203					17																	10415473		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1184C>G	17.37:g.10415473G>C	ENSP00000226207:p.Ser395Cys		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S395C	ENST00000226207.5	37	c.1184	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929814	0.73327	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87887	-2.31	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.42294	U	0.000738	D	0.94420	0.8205	M	0.86953	2.85	0.80722	D	1	D	0.57571	0.98	D	0.68621	0.959	D	0.94575	0.7774	10	0.66056	D	0.02	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	395	P12882	MYH1_HUMAN	C	395	ENSP00000226207:S395C	ENSP00000226207:S395C	S	-	2	0	MYH1	10356198	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	9.715000	0.98748	2.746000	0.94184	0.655000	0.94253	TCT	MYH1	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109061		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	96	0	G	NM_005963		10415473	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	17.39	95	20	SNP	1.000	C	C	10415473	G	C	10415473	3	2	71	1	0	0	0	0	1	0	0	0	10067	942	33	5	4747	5	MYH1	17	10415473	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	2838576	10415473	70779737	145	19276											
MYH2	4620	genome.wustl.edu	37	chr17	10426976	10426976	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagctcctcagccatcAtggcggcctaaatagcaaat	11	10	7	13	1	4	0	3	0	1	0	5	0	5	0	3	2	3	2	3	2	4	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:10426976A>T	ENST00000245503.5	-	37	5693	c.5309T>A	c.(5308-5310)aTg>aAg	p.M1770K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M1770K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1770					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCAGCCATCATGGCGGCCTA	0.493																																																	0													107	109	109					17																	10426976		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5309T>A	17.37:g.10426976A>T	ENSP00000245503:p.Met1770Lys		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1770K	ENST00000245503.5	37	c.5309	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402997	0.62288	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.75938	-0.98;-0.98	5.46	5.46	0.80206	Myosin tail (1);	0.000000	0.47852	U	0.000220	D	0.84347	0.5452	M	0.81942	2.565	0.80722	D	1	B	0.31290	0.318	P	0.48982	0.597	D	0.83398	0.0021	10	0.41790	T	0.15	.	15.7597	0.78070	1.0:0.0:0.0:0.0	.	1770	Q9UKX2	MYH2_HUMAN	K	1770	ENSP00000245503:M1770K;ENSP00000380367:M1770K	ENSP00000245503:M1770K	M	-	2	0	MYH2	10367701	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.317000	0.79018	2.305000	0.77605	0.529000	0.55759	ATG	MYH2	-	pfam_Myosin_tail	ENSG00000125414		0.493	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	111	0	A	NM_017534		10426976	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	39.42	63	41	SNP	1.000	T	T	10426976	A	T	10426976	3	4	71	1	0	0	0	0	1	0	0	0	10073	217	8	5	532	5	MYH2	17	10426976	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	11503	10426976	70768234	146	19277											
MYOCD	93649	genome.wustl.edu	37	chr17	12656133	12656133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctctgttccttctgagCtggatgggctggactccgag	4	11	16	10	1	2	1	0	1	2	0	4	4	4	3	2	5	1	4	2	5	0	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:12656133C>T	ENST00000343344.4	+	10	1528	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.L510L|AC005358.1_ENST00000609971.1_Silent_p.L414L			Q8IZQ8	MYCD_HUMAN	myocardin	510					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCCTTCTGAGCTGGATGGGCT	0.582																																																	0													46	44	45					17																	12656133		2203	4300	6503	SO:0001819	synonymous_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1528C>T	17.37:g.12656133C>T			Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L510	ENST00000343344.4	37	c.1528	CCDS11163.1	17																																																																																			MYOCD	-	NULL	ENSG00000141052		0.582	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0	43	0	C	NM_153604		12656133	1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.563	T	T	12656133	C	T	12656133	2	4	71	1	0	0	0	0	0	0	0	1	10125	796	28	3		3	MYOCD	17	12656133	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	2229157	12656133	68539077	147	19278											
MYO15A	51168	genome.wustl.edu	37	chr17	18023165	18023165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctatgcgccgtacgacGcgccatacccaccctatgac	9	7	7	18	5	0	1	0	1	0	0	1	2	1	1	5	0	3	1	5	0	4	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:18023165G>A	ENST00000205890.5	+	2	1389	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	351					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.A351T(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCGTACGACGCGCCATACCC	0.602																																																	1	Substitution - Missense(1)	endometrium(1)											83	93	90					17																	18023165		2033	4178	6211	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1051G>A	17.37:g.18023165G>A	ENSP00000205890:p.Ala351Thr		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A351T	ENST00000205890.5	37	c.1051	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	6.321	0.427316	0.11987	.	.	ENSG00000091536	ENST00000205890	D	0.87729	-2.29	5.07	-5.64	0.02466	.	.	.	.	.	T	0.68403	0.2997	N	0.19112	0.55	0.09310	N	0.999999	B	0.13145	0.007	B	0.04013	0.001	T	0.54906	-0.8223	9	0.22109	T	0.4	.	0.0988	0.00046	0.3358:0.1841:0.1943:0.2859	.	351	Q9UKN7	MYO15_HUMAN	T	351	ENSP00000205890:A351T	ENSP00000205890:A351T	A	+	1	0	MYO15A	17963890	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.258000	0.18387	-1.334000	0.02244	-0.258000	0.10820	GCG	MYO15A	-	NULL	ENSG00000091536		0.602	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	88	0	G	NM_016239		18023165	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	27.00	73	27	SNP	0.000	A	A	18023165	G	A	18023165	3	1	71	1	0	0	0	0	1	0	0	0	10101	1087	38	1	1053	1	MYO15A	17	18023165	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	5367032	18023165	63172045	148	19279											
PIGS	94005	genome.wustl.edu	37	chr17	26881311	26881311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaccagggacaggaggatgGgcacagccataggcaggaag	13	3	17	8	0	0	1	0	1	0	0	0	5	0	5	2	6	1	2	2	6	2	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:26881311G>A	ENST00000308360.7	-	12	1970	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	UNC119_ENST00000484980.1_5'Flank|PIGS_ENST00000543734.1_Missense_Mutation_p.P471L|UNC119_ENST00000301032.4_5'Flank|UNC119_ENST00000335765.4_5'Flank|PIGS_ENST00000395346.2_Missense_Mutation_p.P524L	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	532					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGGAGGATGGGCACAGCCAT	0.547																																																	0													139	135	136					17																	26881311		2203	4300	6503	SO:0001583	missense	0				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1595C>T	17.37:g.26881311G>A	ENSP00000309430:p.Pro532Leu		Q6UVX6	Missense_Mutation	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.P532L	ENST00000308360.7	37	c.1595	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.104877	0.94245	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.53640	0.61;0.61;0.61	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74733	0.3755	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78679	-0.2110	10	0.51188	T	0.08	-23.4083	18.8446	0.92200	0.0:0.0:1.0:0.0	.	532;524	Q96S52;Q96S52-2	PIGS_HUMAN;.	L	524;532;471	ENSP00000378755:P524L;ENSP00000309430:P532L;ENSP00000438447:P471L	ENSP00000309430:P532L	P	-	2	0	PIGS	23905438	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.460000	0.97641	2.438000	0.82558	0.655000	0.94253	CCC	PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.547	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3		0	57	0	G	NM_033198		26881311	-1			no_errors	ENST00000308360	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	A	A	26881311	G	A	26881311	3	1	71	1	0	0	0	0	1	0	0	0	11937	1232	43	3	76	3	PIGS	17	26881311	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	8858146	26881311	54313899	149	19280											
CCR7	1236	genome.wustl.edu	37	chr17	38711549	38711549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctggaggtcactgtacagGagctctgggatggagagcac	9	8	15	9	0	3	1	1	0	2	1	3	5	3	4	0	5	3	3	0	5	1	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:38711549G>A	ENST00000246657.2	-	3	644	c.582C>T	c.(580-582)ctC>ctT	p.L194L	CCR7_ENST00000579344.1_Silent_p.L188L	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	194					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)	p.L194L(1)		breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CACTGTACAGGAGCTCTGGGA	0.582																																																	1	Substitution - coding silent(1)	urinary_tract(1)											64	56	59					17																	38711549		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.582C>T	17.37:g.38711549G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1	p.L194	ENST00000246657.2	37	c.582	CCDS11369.1	17																																																																																			CCR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn	ENSG00000126353		0.582	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1		0	19	0	G			38711549	-1			no_errors	ENST00000246657	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.996	A	A	38711549	G	A	38711549	2	1	71	1	0	0	0	0	0	0	0	1	2953	1161	41	3		3	CCR7	17	38711549	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	11830238	38711549	42483661	150	19281											
CACNA1G	8913	genome.wustl.edu	37	chr17	48673965	48673965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagcccgatttcttctcaCccagcctggatggtgatggg	7	10	12	12	1	2	2	1	1	2	1	3	4	2	3	3	3	2	0	3	3	0	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:48673965C>T	ENST00000359106.5	+	15	3022	c.3022C>T	c.(3022-3024)Ccc>Tcc	p.P1008S	CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P985S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P985S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1008S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P985S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P985S|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1008S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000352832.5_Missense_Mutation_p.P985S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1008S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1008S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1008S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P985S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.P985S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P985S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1008					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTTCTTCTCACCCAGCCTGGA	0.607																																																	0													101	111	108					17																	48673965		2092	4217	6309	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3022C>T	17.37:g.48673965C>T	ENSP00000352011:p.Pro1008Ser		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.P1008S	ENST00000359106.5	37	c.3022	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	c	8.634	0.894296	0.17613	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-3.86;-3.86;-4.02;-3.79;-3.85;-3.85;-3.89;-3.96;-3.9;-3.94;-3.95;-3.83;-3.83;-3.9;-3.85;-3.79;-3.89;-3.84;-3.83;-3.89;-3.86;-3.83;-3.88;-3.82;-3.89;-3.89	5.11	5.11	0.69529	.	0.163853	0.40818	N	0.001015	D	0.93190	0.7831	N	0.01874	-0.695	0.26933	N	0.966429	D;B;P;D;P;D;D;B;D;B;B;B;B;P;D;B;B;B;B;B;D;B;B;B;B;B	0.71674	0.998;0.001;0.456;0.997;0.749;0.972;0.998;0.227;0.996;0.006;0.349;0.005;0.002;0.615;0.99;0.001;0.069;0.037;0.094;0.066;0.997;0.001;0.349;0.002;0.005;0.113	D;B;B;D;B;P;D;B;D;B;B;B;B;B;P;B;B;B;B;B;D;B;B;B;B;B	0.81914	0.99;0.004;0.304;0.995;0.269;0.724;0.993;0.138;0.909;0.004;0.108;0.01;0.004;0.276;0.795;0.004;0.053;0.029;0.037;0.041;0.986;0.004;0.108;0.004;0.004;0.113	D	0.86451	0.1773	10	0.22109	T	0.4	.	13.3111	0.60380	0.0:0.8415:0.1585:0.0	.	985;1008;1008;1008;1008;1008;1008;1008;1008;1008;1008;985;1008;1008;1008;1008;1008;985;1008;985;985;985;985;1008;985;1008	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	S	985;985;1008;985;985;985;1008;1008;985;1008;1008;1008;1008;1008;1008;985;1008;1008;1008;1008;985;1008;1008;1008;1008;1008	ENSP00000353990:P985S;ENSP00000339302:P985S;ENSP00000392390:P1008S;ENSP00000347078:P985S;ENSP00000409759:P985S;ENSP00000425522:P985S;ENSP00000426261:P1008S;ENSP00000425451:P1008S;ENSP00000422407:P985S;ENSP00000426814:P1008S;ENSP00000427238:P1008S;ENSP00000423112:P1008S;ENSP00000420918:P1008S;ENSP00000426172:P1008S;ENSP00000423045:P1008S;ENSP00000427173:P985S;ENSP00000426098:P1008S;ENSP00000425698:P1008S;ENSP00000426232:P1008S;ENSP00000423317:P1008S;ENSP00000350979:P985S;ENSP00000352011:P1008S;ENSP00000414388:P1008S;ENSP00000423155:P1008S;ENSP00000422268:P1008S;ENSP00000421518:P1008S	ENSP00000339302:P985S	P	+	1	0	CACNA1G	46028964	0.009000	0.17119	0.997000	0.53966	0.990000	0.78478	2.381000	0.44336	2.375000	0.81037	0.561000	0.74099	CCC	CACNA1G	-	NULL	ENSG00000006283		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0	82	0	C	NM_018896		48673965	1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	5.63	66	4	SNP	0.888	T	T	48673965	C	T	48673965	3	4	71	1	0	0	0	0	1	0	0	0	2551	507	18	3	3080	3	CACNA1G	17	48673965	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	9962416	48673965	32521245	151	19282											
CACNA1G	8913	genome.wustl.edu	37	chr17	48694853	48694853	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcatgggcatcacgctGgaggaaatcgaggtcaacgc	11	7	12	11	3	3	0	3	0	0	0	5	3	4	2	1	4	1	2	1	4	2	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:48694853G>T	ENST00000359106.5	+	29	5076	c.5076G>T	c.(5074-5076)ctG>ctT	p.L1692L	CACNA1G_ENST00000513964.1_Silent_p.L1647L|CACNA1G_ENST00000512389.1_Silent_p.L1681L|CACNA1G_ENST00000503485.1_Silent_p.L1658L|CACNA1G_ENST00000514181.1_Silent_p.L1674L|CACNA1G_ENST00000510115.1_Silent_p.L1658L|CACNA1G_ENST00000510366.1_Silent_p.L1640L|CACNA1G_ENST00000442258.2_Silent_p.L1651L|CACNA1G_ENST00000429973.2_Silent_p.L1674L|CACNA1G_ENST00000354983.4_Silent_p.L1658L|CACNA1G_ENST00000507896.1_Silent_p.L1681L|CACNA1G_ENST00000514079.1_Silent_p.L1699L|CACNA1G_ENST00000514717.1_Silent_p.L1635L|CACNA1G_ENST00000507609.1_Silent_p.L1692L|CACNA1G_ENST00000352832.5_Silent_p.L1658L|CACNA1G_ENST00000513689.2_Silent_p.L1647L|CACNA1G_ENST00000515411.1_Silent_p.L1674L|CACNA1G_ENST00000507336.1_Silent_p.L1681L|CACNA1G_ENST00000515765.1_Silent_p.L1681L|CACNA1G_ENST00000507510.2_Silent_p.L1692L|CACNA1G_ENST00000515165.1_Silent_p.L1692L|CACNA1G_ENST00000505165.1_Silent_p.L1692L|CACNA1G_ENST00000502264.1_Silent_p.L1669L|CACNA1G_ENST00000358244.5_Silent_p.L1658L|CACNA1G_ENST00000360761.4_Silent_p.L1669L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1692					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCATCACGCTGGAGGAAATCG	0.617																																																	0													70	70	70					17																	48694853		2160	4267	6427	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5076G>T	17.37:g.48694853G>T			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L1692	ENST00000359106.5	37	c.5076	CCDS45730.1	17																																																																																			CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1		0	59	0	G	NM_018896		48694853	1			no_errors	ENST00000359106	ensembl	human	known	74_37	silent	6.49	72	5	SNP	1.000	T	T	48694853	G	T	48694853	2	4	71	1	0	0	0	0	0	0	0	1	2551	1335	47	3		3	CACNA1G	17	48694853	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	20888	48694853	32500357	152	19283											
GDPD1	284161	genome.wustl.edu	37	chr17	57334523	57334523	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaccgaattccattactGaaggaagtttttgaggcctt	12	13	9	7	1	0	2	0	2	0	0	1	5	1	3	3	2	2	1	3	2	5	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:57334523G>T	ENST00000284116.4	+	5	545	c.408G>T	c.(406-408)ctG>ctT	p.L136L	GDPD1_ENST00000581140.1_Silent_p.L136L|GDPD1_ENST00000581276.1_Silent_p.L136L	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	136	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TTCCATTACTGAAGGAAGTTT	0.348																																																	0													149	132	138					17																	57334523		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.408G>T	17.37:g.57334523G>T			A8W735|Q56VR1|Q8N4E3	Silent	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.L136	ENST00000284116.4	37	c.408	CCDS11616.1	17																																																																																			GDPD1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000153982		0.348	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD1	HGNC	protein_coding	OTTHUMT00000446024.1	-	0	121	0	G	NM_182569		57334523	1	tier1	-	no_errors	ENST00000284116	ensembl	human	known	74_37	silent	5.04	113	6	SNP	1.000	T	T	57334523	G	T	57334523	2	4	71	1	0	0	0	0	0	0	0	1	6349	1277	45	3		3	GDPD1	17	57334523	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	8639670	57334523	23860687	153	19284											
SDK2	54549	genome.wustl.edu	37	chr17	71364724	71364724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcccccgctgggcttcccaGaaataaatctgtgggaacag	10	9	10	12	1	1	1	0	0	1	1	3	2	3	2	3	2	1	2	3	2	4	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr17:71364724G>C	ENST00000392650.3	-	37	4989	c.4989C>G	c.(4987-4989)ttC>ttG	p.F1663L	SDK2_ENST00000388726.3_Missense_Mutation_p.F1644L|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1663	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGGCTTCCCAGAAATAAATCT	0.552																																																	0													31	29	29					17																	71364724		2203	4296	6499	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4989C>G	17.37:g.71364724G>C	ENSP00000376421:p.Phe1663Leu		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.F1663L	ENST00000392650.3	37	c.4989	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425863	0.43020	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.55588	0.51;0.51;0.51	4.69	3.64	0.41730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052842	0.85682	D	0.000000	T	0.36441	0.0967	N	0.20304	0.555	0.38780	D	0.954755	B;B;B	0.16802	0.019;0.005;0.002	B;B;B	0.14578	0.011;0.008;0.008	T	0.41305	-0.9516	10	0.87932	D	0	.	10.9651	0.47408	0.1502:0.0:0.8498:0.0	.	1663;1663;1644	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	1287;1663;1644;820;1663;4	ENSP00000376421:F1663L;ENSP00000373378:F1644L;ENSP00000407098:F820L	ENSP00000324967:F1663L	F	-	3	2	SDK2	68876319	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.915000	0.28638	2.432000	0.82394	0.563000	0.77884	TTC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.552	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2		0	32	0	G	NM_019064		71364724	-1			no_errors	ENST00000392650	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	C	C	71364724	G	C	71364724	3	2	71	1	0	0	0	0	1	0	0	0	14014	933	33	5	1565	5	SDK2	17	71364724	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	14030201	71364724	9830486	154	19285											
MYO5B	4645	genome.wustl.edu	37	chr18	47402068	47402068	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgtacctggactttctTgctgtcctgctgttctctct	3	18	7	13	1	4	0	1	0	3	0	6	1	5	1	2	1	3	4	2	1	1	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr18:47402068T>A	ENST00000285039.7	-	26	3825	c.3526A>T	c.(3526-3528)Aag>Tag	p.K1176*	MYO5B_ENST00000324581.6_Nonsense_Mutation_p.K317*|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1176					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGACTTTCTTGCTGTCCTGC	0.532																																																	0													226	233	231					18																	47402068		2116	4229	6345	SO:0001587	stop_gained	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.3526A>T	18.37:g.47402068T>A	ENSP00000285039:p.Lys1176*		B0I1R3|Q0P656|Q9H6Y6	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1176*	ENST00000285039.7	37	c.3526	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	T	37	6.024523	0.97211	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	.	.	.	5.28	2.85	0.33270	.	0.615660	0.16580	N	0.208258	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	11.9871	0.53153	0.0:0.0:0.2922:0.7078	.	.	.	.	X	1176;317	.	ENSP00000285039:K1176X	K	-	1	0	MYO5B	45656066	1.000000	0.71417	0.760000	0.31359	0.987000	0.75469	0.812000	0.27211	0.311000	0.23014	0.459000	0.35465	AAG	MYO5B	-	NULL	ENSG00000167306		0.532	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2		0	69	0	T			47402068	-1			no_errors	ENST00000285039	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	A	A	47402068	T	A	47402068	4	1	71	1	0	0	0	0	0	1	0	0	10117	1821	63	5	2080	5	MYO5B	18	47402068	Nonsense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09		47402068	30675180	155	19286											
ALPK2	115701	genome.wustl.edu	37	chr18	56202529	56202529	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgaagcacctctattttAggttcctccattttgtggct	7	18	7	9	0	1	1	0	1	1	0	3	1	3	1	3	2	1	3	3	2	3	7			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr18:56202529A>G	ENST00000361673.3	-	5	5103	c.4890T>C	c.(4888-4890)ccT>ccC	p.P1630P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1630						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTCTATTTTAGGTTCCTCCA	0.443																																																	0													56	59	58					18																	56202529		2203	4300	6503	SO:0001819	synonymous_variant	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"Immunoglobulin superfamily / I-set domain containing"	20565	protein-coding gene	gene with protein product	"heart alpha-kinase"					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4890T>C	18.37:g.56202529A>G			Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.P1630	ENST00000361673.3	37	c.4890	CCDS11966.2	18																																																																																			ALPK2	-	NULL	ENSG00000198796		0.443	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0	111	0	A	NM_052947		56202529	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	silent	8.26	100	9	SNP	0.004	G	G	56202529	A	G	56202529	2	3	71	1	0	0	0	0	0	0	0	1	545	407	15	4		4	ALPK2	18	56202529	Silent	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	8800461	56202529	21874719	156	19287											
KDM4B	23030	genome.wustl.edu	37	chr19	5144079	5144079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacgtgacctgcgcccaCgccgcaggcgtgctcatgga	6	7	12	16	5	1	1	1	1	0	0	2	2	2	2	4	2	2	2	4	2	0	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:5144079C>T	ENST00000159111.4	+	19	2870	c.2652C>T	c.(2650-2652)caC>caT	p.H884H	KDM4B_ENST00000536461.1_Silent_p.H918H	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	884					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGCGCCCACGCCGCAGGCG	0.632																																																	0													73	70	71					19																	5144079		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2652C>T	19.37:g.5144079C>T			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.H884	ENST00000159111.4	37	c.2652	CCDS12138.1	19																																																																																			KDM4B	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000127663		0.632	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	-	0	72	0	C	NM_015015		5144079	1	tier1	-	no_errors	ENST00000159111	ensembl	human	known	74_37	silent	12.35	71	10	SNP	1.000	T	T	5144079	C	T	5144079	2	4	71	1	0	0	0	0	0	0	0	1	8156	535	19	1		1	KDM4B	19	5144079	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09		5144079	53984904	157	19288											
MLL4	9757	genome.wustl.edu	37	chr19	36218097	36218097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgctgctatgaagacaaCgactatgagagcaagatgat	16	7	10	8	2	0	5	0	3	0	3	0	7	0	5	0	0	3	3	0	0	5	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:36218097C>T	ENST00000222270.7	+	15	4044	c.4044C>T	c.(4042-4044)aaC>aaT	p.N1348N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.N1348N	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1348					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ATGAAGACAACGACTATGAGA	0.557																																																	0													56	56	56					19																	36218097		2147	4276	6423	SO:0001819	synonymous_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4044C>T	19.37:g.36218097C>T			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.N1348	ENST00000222270.7	37	c.4044	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000272333		0.557	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	48	0	C	NM_014727		36218097	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	25.00	36	12	SNP	0.752	T	T	36218097	C	T	36218097	2	4	71	1	0	0	0	0	0	0	0	1	9661	535	19	1		1	MLL4	19	36218097	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	31074018	36218097	22910886	158	19289											
ITPKC	80271	genome.wustl.edu	37	chr19	41239217	41239217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccgctacatgcagtggaGggaaaccatgagctccacct	10	6	11	14	1	0	1	0	1	0	0	1	3	1	3	5	2	4	3	5	2	2	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:41239217G>T	ENST00000263370.2	+	4	1655	c.1622G>T	c.(1621-1623)aGg>aTg	p.R541M		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	541	Substrate binding.				inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ATGCAGTGGAGGGAAACCATG	0.622																																																	0													47	41	43					19																	41239217		2203	4300	6503	SO:0001583	missense	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"inositol 1,4,5-trisphosphate 3-kinase C"			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1622G>T	19.37:g.41239217G>T	ENSP00000263370:p.Arg541Met		Q9UE25|Q9Y475	Missense_Mutation	SNP	pfam_IPK	p.R541M	ENST00000263370.2	37	c.1622	CCDS12563.1	19	.	.	.	.	.	.	.	.	.	.	G	19.58	3.855091	0.71719	.	.	ENSG00000086544	ENST00000263370	T	0.19532	2.14	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.59348	0.2187	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70378	-0.4888	10	0.87932	D	0	-28.6177	18.3444	0.90317	0.0:0.0:1.0:0.0	.	541	Q96DU7	IP3KC_HUMAN	M	541	ENSP00000263370:R541M	ENSP00000263370:R541M	R	+	2	0	ITPKC	45931057	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.812000	0.99227	2.693000	0.91896	0.644000	0.83932	AGG	ITPKC	-	pfam_IPK	ENSG00000086544		0.622	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1		0	55	0	G	NM_025194		41239217	1			no_errors	ENST00000263370	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	41239217	G	T	41239217	3	4	71	1	0	0	0	0	1	0	0	0	7946	1000	35	3	1636	3	ITPKC	19	41239217	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	5021120	41239217	17889766	159	19290											
SLC8A2	6543	genome.wustl.edu	37	chr19	47935592	47935592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggcagtactcggtgggggGcacacaggcgaagagcacct	9	5	17	10	2	0	1	0	0	0	1	1	2	0	1	1	6	2	4	1	6	2	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:47935592G>A	ENST00000236877.6	-	9	2616	c.2221C>T	c.(2221-2223)Ccc>Tcc	p.P741S	SLC8A2_ENST00000539381.1_Missense_Mutation_p.P204S|SLC8A2_ENST00000542837.1_Missense_Mutation_p.P497S|SLC8A2_ENST00000601757.1_5'Flank	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	741					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TCGGTGGGGGGCACACAGGCG	0.652																																																	0													101	87	91					19																	47935592		2203	4300	6503	SO:0001583	missense	0			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"Solute carriers"	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2221C>T	19.37:g.47935592G>A	ENSP00000236877:p.Pro741Ser		B4DYQ9	Missense_Mutation	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.P741S	ENST00000236877.6	37	c.2221	CCDS33065.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199735	0.79015	.	.	ENSG00000118160	ENST00000391903;ENST00000236877;ENST00000539381;ENST00000542837	T;T;T	0.70399	0.97;-0.48;0.83	4.23	4.23	0.50019	.	0.000000	0.64402	D	0.000003	D	0.88496	0.6452	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.92091	0.5680	10	0.87932	D	0	.	15.9664	0.79974	0.0:0.0:1.0:0.0	.	569;741	E9PGS7;Q9UPR5	.;NAC2_HUMAN	S	569;741;204;497	ENSP00000236877:P741S;ENSP00000440588:P204S;ENSP00000437536:P497S	ENSP00000236877:P741S	P	-	1	0	SLC8A2	52627404	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	9.619000	0.98369	2.377000	0.81083	0.558000	0.71614	CCC	SLC8A2	-	tigrfam_Na_Ca_Ex	ENSG00000118160		0.652	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1		0	72	0	G			47935592	-1			no_errors	ENST00000236877	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	47935592	G	A	47935592	3	1	71	1	0	0	0	0	1	0	0	0	14752	1203	42	3	552	3	SLC8A2	19	47935592	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	6696375	47935592	11193391	160	19291											
LIG1	3978	genome.wustl.edu	37	chr19	48630558	48630558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattgaggtagatgaggtcGaaggcgtacaaacacacctg	13	7	12	9	2	0	3	0	2	0	1	1	4	0	3	2	3	2	2	2	3	4	3			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:48630558G>A	ENST00000263274.7	-	21	2399	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Silent_p.F629F|CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000536218.1_Silent_p.F592F	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	660					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGATGAGGTCGAAGGCGTACA	0.612								Nucleotide excision repair (NER)																																									0													215	155	175					19																	48630558		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1980C>T	19.37:g.48630558G>A			B2RAI8|Q2TB12|Q32P23	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.F660	ENST00000263274.7	37	c.1980	CCDS12711.1	19																																																																																			LIG1	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000105486		0.612	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	HGNC	protein_coding	OTTHUMT00000465575.1	-	0	51	0	G	NM_000234		48630558	-1	tier1	-	no_errors	ENST00000263274	ensembl	human	known	74_37	silent	52.70	35	39	SNP	1.000	A	A	48630558	G	A	48630558	2	1	71	1	0	0	0	0	0	0	0	1	8810	1049	37	1		1	LIG1	19	48630558	Silent	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	694966	48630558	10498425	161	19292											
NAPSA	9476	genome.wustl.edu	37	chr19	50863114	50863114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatcaggctcttcaGggtccctgcaggggcagagt	6	9	12	14	0	3	1	2	0	1	1	6	1	6	1	3	4	1	3	3	4	0	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:50863114G>T	ENST00000253719.2	-	6	882	c.674C>A	c.(673-675)cCt>cAt	p.P225H	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	225					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		AGGCTCTTCAGGGTCCCTGCA	0.622																																																	0													63	66	65					19																	50863114		2203	4300	6503	SO:0001583	missense	0			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.674C>A	19.37:g.50863114G>T	ENSP00000253719:p.Pro225His		Q8WWD9	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.P225H	ENST00000253719.2	37	c.674	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758420	0.49468	.	.	ENSG00000131400	ENST00000253719	T	0.57595	0.39	3.68	2.63	0.31362	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.269772	0.42420	D	0.000720	T	0.68063	0.2960	M	0.85462	2.755	0.40810	D	0.983413	D	0.69078	0.997	P	0.60173	0.87	T	0.71464	-0.4585	10	0.87932	D	0	.	8.9621	0.35854	0.1167:0.0:0.8833:0.0	.	225	O96009	NAPSA_HUMAN	H	225	ENSP00000253719:P225H	ENSP00000253719:P225H	P	-	2	0	NAPSA	55554926	1.000000	0.71417	0.401000	0.26359	0.440000	0.31957	5.629000	0.67798	0.664000	0.31047	0.313000	0.20887	CCT	NAPSA	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000131400		0.622	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	HGNC	protein_coding	OTTHUMT00000464714.1		0	78	0	G	NM_004851		50863114	-1			no_errors	ENST00000253719	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.993	T	T	50863114	G	T	50863114	3	4	71	1	0	0	0	0	1	0	0	0	10204	1000	35	3	604	3	NAPSA	19	50863114	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	2232556	50863114	8265869	162	19293											
LILRA6	79168	genome.wustl.edu	37	chr19	54743803	54743803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcggccctgtgggtGggaggctggagcctccagag	5	6	21	9	1	0	1	0	0	0	1	1	4	1	4	3	7	1	1	3	7	0	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr19:54743803G>A	ENST00000396365.2	-	7	1322	c.1283C>T	c.(1282-1284)cCa>cTa	p.P428L	LILRA6_ENST00000245621.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P428L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	428					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGTGGGTGGGAGGCTGGA	0.692																																																	0													5	7	6					19																	54743803		1826	3703	5529	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1283C>T	19.37:g.54743803G>A	ENSP00000379651:p.Pro428Leu			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P428L	ENST00000396365.2	37	c.1283	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	G	7.913	0.736842	0.15574	.	.	ENSG00000244482	ENST00000419410;ENST00000396365	T;T	0.00515	6.93;6.87	2.42	-0.208	0.13185	.	.	.	.	.	T	0.00468	0.0015	L	0.60455	1.87	0.09310	N	0.999999	B;B	0.18610	0.019;0.029	B;B	0.13407	0.005;0.009	T	0.42882	-0.9425	9	0.48119	T	0.1	.	3.0348	0.06118	0.188:0.2931:0.519:0.0	.	428;428	Q6PI73;D3YTC4	LIRA6_HUMAN;.	L	428	ENSP00000411227:P428L;ENSP00000379651:P428L	ENSP00000379651:P428L	P	-	2	0	LILRA6	59435615	0.000000	0.05858	0.003000	0.11579	0.033000	0.12548	0.231000	0.17872	0.351000	0.24027	0.174000	0.16983	CCA	LILRA6	-	NULL	ENSG00000244482		0.692	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	-	0	50	0	G	NM_024318		54743803	-1	tier1	-	no_errors	ENST00000419410	ensembl	human	known	74_37	missense	49.21	32	31	SNP	0.001	A	A	54743803	G	A	54743803	3	1	71	1	0	0	0	0	1	0	0	0	8818	1348	47	3	170	3	LILRA6	19	54743803	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	3880689	54743803	4385180	163	19294											
C20orf94	128710	genome.wustl.edu	37	chr20	10579382	10579382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatacgccttcgctgcatcAggagcacacagaatgctggt	10	8	12	11	2	1	1	1	0	0	1	2	3	1	3	1	3	4	4	1	3	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:10579382A>G	ENST00000334534.5	+	5	478	c.298A>G	c.(298-300)Agg>Ggg	p.R100G		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	100																	TCGCTGCATCAGGAGCACACA	0.428																																																	0													114	101	105					20																	10579382		2203	4300	6503	SO:0001583	missense	0			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"chromosome 20 open reading frame 94"	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.298A>G	20.37:g.10579382A>G	ENSP00000335557:p.Arg100Gly		Q05CG2|Q05CT9	Missense_Mutation	SNP	NULL	p.R100G	ENST00000334534.5	37	c.298	CCDS33439.1	20	.	.	.	.	.	.	.	.	.	.	A	9.695	1.152853	0.21371	.	.	ENSG00000149346	ENST00000334534	T	0.21932	1.98	5.31	-10.6	0.00265	.	1.282160	0.05064	N	0.480310	T	0.08980	0.0222	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17198	-1.0377	10	0.22109	T	0.4	7.6013	7.5402	0.27733	0.1265:0.1605:0.5692:0.1439	.	100	Q5VYV7	CT094_HUMAN	G	100	ENSP00000335557:R100G	ENSP00000335557:R100G	R	+	1	2	C20orf94	10527382	0.000000	0.05858	0.000000	0.03702	0.377000	0.30045	-0.547000	0.06055	-2.347000	0.00620	-1.155000	0.01812	AGG	SLX4IP	-	NULL	ENSG00000149346		0.428	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	-	0	60	0	A	NM_001009608		10579382	1	tier1	-	no_errors	ENST00000334534	ensembl	human	known	74_37	missense	16.46	66	13	SNP	0.000	G	G	10579382	A	G	10579382	3	3	71	1	0	0	0	0	1	0	0	0	2128	179	7	4	312	4	C20orf94	20	10579382	Missense_Mutation	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09		10579382	52446138	164	19295											
KIF16B	55614	genome.wustl.edu	37	chr20	16474995	16474995	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccttggtcaattcttgaaCctgaaaagaaaaatatacat	16	13	5	7	0	2	3	1	2	1	1	3	3	3	3	2	1	2	0	2	1	8	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:16474995C>T	ENST00000354981.2	-	12	1400	c.1243G>A	c.(1243-1245)Gtt>Att	p.V415I	KIF16B_ENST00000408042.1_Splice_Site_p.V415I|KIF16B_ENST00000355755.3_Splice_Site_p.V415I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	415					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AATTCTTGAACCTGAAAAGAA	0.303																																																	0													94	84	87					20																	16474995		2199	4295	6494	SO:0001630	splice_region_variant	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1243-1G>A	20.37:g.16474995C>T			A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.V415I	ENST00000354981.2	37	c.1243	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557683	0.65425	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.69040	-0.36;-0.36;-0.37	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	N	0.11651	0.15	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;D	0.80764	0.994;0.994;0.994;0.985	T	0.65348	-0.6190	10	0.19147	T	0.46	.	19.5942	0.95527	0.0:1.0:0.0:0.0	.	415;415;415;415	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	I	415	ENSP00000347076:V415I;ENSP00000347995:V415I;ENSP00000384164:V415I	ENSP00000347076:V415I	V	-	1	0	KIF16B	16422995	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.689000	0.74562	2.707000	0.92482	0.650000	0.86243	GTT	KIF16B	-	NULL	ENSG00000089177		0.303	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	-	0	78	0	C	NM_017683	Missense_Mutation	16474995	-1	tier1	-	no_errors	ENST00000408042	ensembl	human	known	74_37	missense	15.70	102	19	SNP	1.000	T	T	16474995	C	T	16474995	5	4	71	1	0	0	0	0	0	0	1	0	8305	521	18	3	2770	3	KIF16B	20	16474995	Splice_Site	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	5895613	16474995	46550525	165	19296											
CRNKL1	51340	genome.wustl.edu	37	chr20	20019078	20019078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcaatttcaaaatcaataTatgatttccaaagcacctaa	17	12	3	9	0	3	1	3	1	0	0	4	1	4	1	2	0	1	2	2	0	8	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:20019078T>C	ENST00000377340.2	-	13	2076	c.2045A>G	c.(2044-2046)tAt>tGt	p.Y682C	CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.Y670C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.Y521C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	682					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAAATCAATATATGATTTCCA	0.423																																																	0													63	51	55					20																	20019078		2160	4189	6349	SO:0001583	missense	0			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"SYF3 pre-mRNA-splicing factor"	610952	"crooked neck (Drosophila Crn homolog)-like 1", "Crn, crooked neck-like 1 (Drosophila)", "crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2045A>G	20.37:g.20019078T>C	ENSP00000366557:p.Tyr682Cys		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.Y682C	ENST00000377340.2	37	c.2045	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368014	0.82463	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.61392	0.11;0.11;0.11	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	H	0.94620	3.56	0.80722	D	1	P	0.44816	0.844	P	0.53809	0.735	D	0.84567	0.0653	10	0.62326	D	0.03	-18.0902	16.3945	0.83586	0.0:0.0:0.0:1.0	.	682	Q9BZJ0	CRNL1_HUMAN	C	670;682;521	ENSP00000366544:Y670C;ENSP00000366557:Y682C;ENSP00000440733:Y521C	ENSP00000366544:Y670C	Y	-	2	0	CRNKL1	19967078	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.983000	0.70540	2.265000	0.75225	0.482000	0.46254	TAT	CRNKL1	-	smart_HAT	ENSG00000101343		0.423	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	-	0	84	0	T			20019078	-1	tier1	-	no_errors	ENST00000377340	ensembl	human	known	74_37	missense	18.18	99	22	SNP	1.000	C	C	20019078	T	C	20019078	3	2	71	1	0	0	0	0	1	0	0	0	3898	1406	49	4	513	4	CRNKL1	20	20019078	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	3544083	20019078	43006442	166	19297											
CD93	22918	genome.wustl.edu	37	chr20	23066170	23066170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacaggctacattggcCgcagaggcaaagggcacagc	11	4	12	14	1	0	1	0	0	0	1	1	1	1	1	3	4	2	4	3	4	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:23066170C>T	ENST00000246006.4	-	1	807	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	220			A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTACATTGGCCGCAGAGGCAA	0.622																																																	0													80	81	81					20																	23066170		2203	4300	6503	SO:0001819	synonymous_variant	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.660G>A	20.37:g.23066170C>T			O00274	Silent	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A220	ENST00000246006.4	37	c.660	CCDS13149.1	20																																																																																			CD93	-	pirsf_CD93/CD141	ENSG00000125810		0.622	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0	56	0	C	NM_012072		23066170	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	silent	20.00	64	16	SNP	0.000	T	T	23066170	C	T	23066170	2	4	71	1	0	0	0	0	0	0	0	1	3054	639	23	1		1	CD93	20	23066170	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	3047092	23066170	39959350	167	19298											
ZNF217	7764	genome.wustl.edu	37	chr20	52193541	52193541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgagaggacagcgctgcCcagaacattctgaaaaacag	14	6	12	9	1	1	3	0	2	1	2	1	5	1	4	1	2	4	1	1	2	3	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:52193541C>T	ENST00000371471.2	-	4	2187	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Missense_Mutation_p.G588S			O75362	ZN217_HUMAN	zinc finger protein 217	588					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACAGCGCTGCCCAGAACATTC	0.428																																																	0													121	114	116					20																	52193541		2203	4300	6503	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"Zinc fingers, C2H2-type"	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1762G>A	20.37:g.52193541C>T	ENSP00000360526:p.Gly588Ser		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G588S	ENST00000371471.2	37	c.1762	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002787	0.74932	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08807	3.05;3.05	5.17	4.22	0.49857	.	0.310580	0.32884	N	0.005522	T	0.18882	0.0453	M	0.67953	2.075	0.38350	D	0.944316	D	0.69078	0.997	D	0.64042	0.921	T	0.16158	-1.0412	10	0.17832	T	0.49	-23.9769	7.846	0.29426	0.1626:0.7552:0.0:0.0822	.	588	O75362	ZN217_HUMAN	S	588	ENSP00000360526:G588S;ENSP00000304308:G588S	ENSP00000304308:G588S	G	-	1	0	ZNF217	51626948	0.991000	0.36638	0.994000	0.49952	0.857000	0.48899	1.687000	0.37680	1.276000	0.44395	0.555000	0.69702	GGC	ZNF217	-	NULL	ENSG00000171940		0.428	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	-	0	71	0	C	NM_006526		52193541	-1	tier1	-	no_errors	ENST00000302342	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.998	T	T	52193541	C	T	52193541	3	4	71	1	0	0	0	0	1	0	0	0	17820	623	22	3	1392	3	ZNF217	20	52193541	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	29127371	52193541	10831979	168	19299											
DIDO1	11083	genome.wustl.edu	37	chr20	61542393	61542393	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggaccctcctcccggcgcTtcttccgcaggcgactctgg	3	8	12	18	5	2	0	0	0	2	0	5	2	5	1	4	4	0	2	4	4	0	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr20:61542393T>A	ENST00000266070.4	-	3	897	c.572A>T	c.(571-573)aAg>aTg	p.K191M	DIDO1_ENST00000370371.4_Missense_Mutation_p.K191M|DIDO1_ENST00000370366.1_Missense_Mutation_p.K191M|DIDO1_ENST00000354665.4_Missense_Mutation_p.K191M|DIDO1_ENST00000395343.1_Missense_Mutation_p.K191M|DIDO1_ENST00000370368.1_Missense_Mutation_p.K191M|DIDO1_ENST00000395340.1_Missense_Mutation_p.K191M|DIDO1_ENST00000395335.2_Missense_Mutation_p.K191M|DIDO1_ENST00000266071.5_Missense_Mutation_p.K191M	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	191					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCCGGCGCTTCTTCCGCAG	0.647																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													33	36	35					20																	61542393		2203	4300	6503	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.572A>T	20.37:g.61542393T>A	ENSP00000266070:p.Lys191Met		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.K191M	ENST00000266070.4	37	c.572	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	T	15.48	2.847024	0.51164	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.22539	3.45;3.45;2.47;2.47;1.95;1.95;1.95;1.96;1.96	5.48	0.588	0.17445	.	0.161291	0.28317	U	0.015791	T	0.31071	0.0785	M	0.63428	1.95	0.18873	N	0.999984	D;D;P;D	0.69078	0.991;0.997;0.911;0.98	P;P;P;P	0.58873	0.847;0.847;0.723;0.533	T	0.10847	-1.0612	10	0.66056	D	0.02	-12.7286	5.5922	0.17307	0.0:0.3087:0.1383:0.553	.	191;191;191;191	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	M	191	ENSP00000266070:K191M;ENSP00000378752:K191M;ENSP00000378749:K191M;ENSP00000378744:K191M;ENSP00000359397:K191M;ENSP00000359394:K191M;ENSP00000346692:K191M;ENSP00000359391:K191M;ENSP00000266071:K191M	ENSP00000266070:K191M	K	-	2	0	DIDO1	61012838	0.012000	0.17670	0.439000	0.26833	0.643000	0.38383	-0.015000	0.12634	-0.171000	0.10797	0.459000	0.35465	AAG	DIDO1	-	NULL	ENSG00000101191		0.647	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	28	0	T	NM_080796		61542393	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	15.62	26	5	SNP	0.032	A	A	61542393	T	A	61542393	3	1	71	1	0	0	0	0	1	0	0	0	4536	1609	56	5	6336	5	DIDO1	20	61542393	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	9348852	61542393	1483127	169	19300											
NRIP1	8204	genome.wustl.edu	37	chr21	16339180	16339180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttcagttcggtgtttgCaagacaagtctatgggaaca	11	14	10	6	1	2	1	1	0	1	1	3	2	2	2	0	2	2	3	0	2	4	5			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr21:16339180C>T	ENST00000400202.1	-	3	2046	c.1334G>A	c.(1333-1335)tGc>tAc	p.C445Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.C445Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.C445Y|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	445	Repression domain 2.|Required for targeting to small nuclear foci.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCGGTGTTTGCAAGACAAGTC	0.388																																																	0													142	133	136					21																	16339180		2203	4300	6503	SO:0001583	missense	0			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"receptor interacting protein 140", "nuclear factor RIP140"	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1334G>A	21.37:g.16339180C>T	ENSP00000383063:p.Cys445Tyr		Q8IWE8	Missense_Mutation	SNP	NULL	p.C445Y	ENST00000400202.1	37	c.1334	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203135	0.38905	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18502	2.21;2.21;2.21	6.06	5.11	0.69529	.	0.204197	0.45361	D	0.000380	T	0.12561	0.0305	L	0.36672	1.1	0.45621	D	0.998556	B	0.33583	0.418	B	0.30943	0.122	T	0.08659	-1.0711	10	0.16896	T	0.51	-8.6602	11.8723	0.52527	0.3693:0.6307:0.0:0.0	.	445	P48552	NRIP1_HUMAN	Y	445	ENSP00000383060:C445Y;ENSP00000383063:C445Y;ENSP00000327213:C445Y	ENSP00000327213:C445Y	C	-	2	0	NRIP1	15261051	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.165000	0.71891	2.879000	0.98667	0.650000	0.86243	TGC	NRIP1	-	NULL	ENSG00000180530		0.388	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	-	0	58	0	C	NM_003489		16339180	-1	tier1	-	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	16339180	C	T	16339180	3	4	71	1	0	0	0	0	1	0	0	0	10691	710	25	3	2146	3	NRIP1	21	16339180	Missense_Mutation	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09		16339180	31790715	170	19301											
KREMEN1	83999	genome.wustl.edu	37	chr22	29533368	29533368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaactactcagccatgTcttctgtggtctattcccct	6	14	9	12	0	4	0	1	0	3	0	5	1	5	1	3	2	3	0	3	2	3	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:29533368T>G	ENST00000407188.1	+	6	664	c.664T>G	c.(664-666)Tct>Gct	p.S222A	KREMEN1_ENST00000400338.2_Missense_Mutation_p.S224A|KREMEN1_ENST00000327813.5_Missense_Mutation_p.S224A|KREMEN1_ENST00000400335.4_Missense_Mutation_p.S224A			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	222	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CTCAGCCATGTCTTCTGTGGT	0.612																																																	0													91	94	93					22																	29533368		1958	4151	6109	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.664T>G	22.37:g.29533368T>G	ENSP00000385431:p.Ser222Ala		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.S224A	ENST00000407188.1	37	c.670	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	T	13.15	2.152672	0.38021	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.14	1.61	0.23674	CUB (5);	0.424659	0.21519	N	0.073242	T	0.16938	0.0407	L	0.59436	1.845	0.32724	N	0.509888	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.11329	0.002;0.006;0.002	T	0.10870	-1.0611	10	0.27785	T	0.31	.	4.5452	0.12078	0.4861:0.0:0.0929:0.421	.	222;224;224	Q96MU8;Q96MU8-2;Q96MU8-3	KREM1_HUMAN;.;.	A	224;224;224;222	ENSP00000383189:S224A;ENSP00000383192:S224A;ENSP00000331242:S224A;ENSP00000385431:S222A	ENSP00000331242:S224A	S	+	1	0	KREMEN1	27863368	0.908000	0.30866	0.964000	0.40570	0.987000	0.75469	1.849000	0.39318	0.390000	0.25115	-0.649000	0.03915	TCT	KREMEN1	-	pirsf_Kremen,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183762		0.612	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0	54	0	T			29533368	1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	24.24	50	16	SNP	0.995	G	G	29533368	T	G	29533368	3	3	71	1	0	0	0	0	1	0	0	0	8469	1667	58	4	692	4	KREMEN1	22	29533368	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09		29533368	21771198	171	19302											
DEPDC5	9681	genome.wustl.edu	37	chr22	32205625	32205625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaagcaaaaaatggccGtgatacatgtgagtattttt	15	12	10	4	1	0	3	0	3	0	1	0	4	0	3	1	1	2	2	1	1	6	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:32205625G>T	ENST00000382112.3	+	18	1386	c.1316G>T	c.(1315-1317)cGt>cTt	p.R439L	DEPDC5_ENST00000382105.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R439L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R439L|DEPDC5_ENST00000400248.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R439L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R439L|DEPDC5_ENST00000536766.1_Missense_Mutation_p.R411L|DEPDC5_ENST00000400242.3_Missense_Mutation_p.R439L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	439					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AAAAATGGCCGTGATACATGT	0.393																																																	0													92	88	89					22																	32205625		1825	4084	5909	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1316G>T	22.37:g.32205625G>T	ENSP00000371546:p.Arg439Leu		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R439L	ENST00000382112.3	37	c.1316	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328461	0.41197	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.45276	1.49;1.47;0.9;1.89;1.88;1.88;1.46;1.89;1.88;1.88	5.31	4.29	0.51040	.	0.198026	0.46442	D	0.000289	T	0.29914	0.0748	L	0.40543	1.245	0.80722	D	1	B;B;B;B;B;B	0.31318	0.093;0.024;0.319;0.132;0.16;0.001	B;B;B;B;B;B	0.26094	0.03;0.017;0.066;0.024;0.03;0.003	T	0.07139	-1.0788	10	0.27082	T	0.32	.	9.1458	0.36933	0.1671:0.0:0.8329:0.0	.	439;411;439;439;439;439	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	L	439;411;439;439;439;439;439;439;439;439;439	ENSP00000440210:R439L;ENSP00000441358:R411L;ENSP00000383101:R439L;ENSP00000266091:R439L;ENSP00000383108:R439L;ENSP00000383105:R439L;ENSP00000371539:R439L;ENSP00000371546:R439L;ENSP00000371545:R439L;ENSP00000383107:R439L	ENSP00000266091:R439L	R	+	2	0	DEPDC5	30535625	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.150000	0.50662	1.250000	0.43966	0.650000	0.86243	CGT	DEPDC5	-	NULL	ENSG00000100150		0.393	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	-	0	41	0	G	NM_014662		32205625	1	tier1	-	no_errors	ENST00000266091	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	32205625	G	T	32205625	3	4	71	1	0	0	0	0	1	0	0	0	4456	1145	40	2	1386	2	DEPDC5	22	32205625	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	2672257	32205625	19098941	172	19303											
FBXO7	25793	genome.wustl.edu	37	chr22	32875073	32875073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggacttgatatgtttGattcttcaagatgacattcc	9	16	9	7	0	3	4	1	3	2	1	4	5	4	5	1	2	0	1	1	2	2	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:32875073G>T	ENST00000266087.7	+	2	555	c.228G>T	c.(226-228)ttG>ttT	p.L76F	FBXO7_ENST00000382058.3_Intron|FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_5'UTR	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	76	Ubiquitin-like.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGATATGTTTGATTCTTCAAG	0.428																																																	0													226	226	226					22																	32875073		2203	4300	6503	SO:0001583	missense	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.228G>T	22.37:g.32875073G>T	ENSP00000266087:p.Leu76Phe		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L76F	ENST00000266087.7	37	c.228	CCDS13907.1	22	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614799	0.66672	.	.	ENSG00000100225	ENST00000266087	T	0.61040	0.14	5.45	3.36	0.38483	.	0.134314	0.49305	D	0.000142	T	0.64962	0.2646	L	0.55743	1.74	0.80722	D	1	D	0.71674	0.998	D	0.64595	0.927	T	0.62849	-0.6767	10	0.42905	T	0.14	-12.5071	9.0136	0.36157	0.1874:0.0:0.8126:0.0	.	76	Q9Y3I1	FBX7_HUMAN	F	76	ENSP00000266087:L76F	ENSP00000266087:L76F	L	+	3	2	FBXO7	31205073	0.923000	0.31300	0.999000	0.59377	0.992000	0.81027	1.301000	0.33447	2.553000	0.86117	0.555000	0.69702	TTG	FBXO7	-	NULL	ENSG00000100225		0.428	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	-	0	53	0	G			32875073	1	tier1	-	no_errors	ENST00000266087	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.870	T	T	32875073	G	T	32875073	3	4	71	1	0	0	0	0	1	0	0	0	5782	1281	45	3	275	3	FBXO7	22	32875073	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	669448	32875073	18429493	173	19304											
SMC1B	26150	genome.wustl.edu	37	chr22	45809379	45809379	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcaggtgaacctccggaAggggccaatgacctggcggc	9	5	16	11	2	0	2	0	2	0	0	1	4	1	3	4	6	2	1	4	6	3	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:45809379A>G	ENST00000342894.3	+	0	0				RIBC2_ENST00000538017.1_5'Flank|SMC1B_ENST00000357450.4_Missense_Mutation_p.F24L|SMC1B_ENST00000404354.3_Missense_Mutation_p.F24L			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2							nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AACCTCCGGAAGGGGCCAATG	0.672																																																	0													22	29	27					22																	45809379		1944	4133	6077	SO:0001631	upstream_gene_variant	0			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332		22.37:g.45809379A>G	Exception_encountered		Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge	p.F24L	ENST00000342894.3	37	c.70		22	.	.	.	.	.	.	.	.	.	.	A	16.07	3.018486	0.54576	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09350	2.99;3.21	4.71	4.71	0.59529	.	0.000000	0.46442	U	0.000298	T	0.10508	0.0257	L	0.31664	0.95	0.54753	D	0.999988	B;P	0.40398	0.281;0.716	B;B	0.41666	0.363;0.24	T	0.23119	-1.0197	10	0.29301	T	0.29	.	14.1814	0.65577	1.0:0.0:0.0:0.0	.	24;24	Q8NDV3-2;Q8NDV3-3	.;.	L	24	ENSP00000350036:F24L;ENSP00000385902:F24L	ENSP00000350036:F24L	F	-	1	0	SMC1B	44188043	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.799000	0.75160	1.733000	0.51620	0.455000	0.32223	TTC	SMC1B	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000077935		0.672	RIBC2-001	KNOWN	basic	protein_coding	SMC1B	HGNC	protein_coding	OTTHUMT00000322250.1		0	18	0	A	NM_015653		45809379	-1			no_errors	ENST00000357450	ensembl	human	known	74_37	missense	9.76	36	4	SNP	1.000	G	G	45809379	A	G	45809379	1	3	71	0	1	0	0	0	0	0	0	0	14827	72	3	4		4	SMC1B	22	45809379	5'Flank	SNP	A	TCGA-L5-A88S-01A-11D-A36J-09	12934306	45809379	5495187	174	19305											
BRD1	23774	genome.wustl.edu	37	chr22	50217249	50217249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcactcctggtgcacggcCaggttgcacatgtcgcagaa	9	8	12	12	2	0	1	0	0	0	1	2	1	1	1	2	3	3	5	2	3	2	2			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chr22:50217249C>T	ENST00000216267.8	-	1	1203	c.717G>A	c.(715-717)ctG>ctA	p.L239L	BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404034.1_Silent_p.L239L|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000404760.1_Silent_p.L239L|BRD1_ENST00000457780.2_Silent_p.L239L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	239					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGTGCACGGCCAGGTTGCACA	0.657																																																	0													46	38	41					22																	50217249		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.717G>A	22.37:g.50217249C>T			A6ZJA4	Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.L239	ENST00000216267.8	37	c.717	CCDS14080.1	22																																																																																			BRD1	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000100425		0.657	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	-	0	18	0	C	NM_014577		50217249	-1	tier1	-	no_errors	ENST00000216267	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T	T	50217249	C	T	50217249	2	4	71	1	0	0	0	0	0	0	0	1	1505	581	21	3		3	BRD1	22	50217249	Silent	SNP	C	TCGA-L5-A88S-01A-11D-A36J-09	4407870	50217249	1087317	175	19306											
SRPX	8406	genome.wustl.edu	37	chrX	38079995	38079996	+	Missense_Mutation	DNP	CA	CA	AG																															cgcagcagcagcagcagcagCagaggcggcagcagcagcag																								rs201383079		TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:38079995_38079996CA>AG	ENST00000378533.3	-	1	156_157	c.50_51TG>CT	c.(49-51)cTG>cCT	p.L17P	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Missense_Mutation_p.L17P|RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_Missense_Mutation_p.L17P|SRPX_ENST00000432886.2_Missense_Mutation_p.L17P|SRPX_ENST00000343800.6_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	17					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						gcagcagcagcagaggcggcag	0.738											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.50_51delinsAG	X.37:g.38079995_38079996delinsAG	ENSP00000367794:p.Leu17Pro	875	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent|Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L17|p.L17P	ENST00000378533.3	37	c.51|c.50	CCDS14245.1	X																																																																																			SRPX	-	NULL	ENSG00000101955		0.738	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1		0	25	0	C|A	NM_006307		38079995|38079996	-1			no_errors	ENST00000378533	ensembl	human	known	74_37	silent|missense	15.38	22	4	SNP	0.004|0.000	A|G	AG	38079996	CA	AG	38079995	3	1	71	1	0	0	0	0	1	0	0	0	15211	697	25	3	1383	3	SRPX	23	38079995	Missense_Mutation	DNP	CA	TCGA-L5-A88S-01A-11D-A36J-09		38079995	117190565	176	19307											
IL1RAPL2	26280	genome.wustl.edu	37	chrX	105011645	105011645	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcttagctttaccagtgaTatttggtagtgaaaaatctg	12	14	10	5	0	1	2	0	2	1	0	1	3	1	2	1	1	3	3	1	1	6	6			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:105011645T>G	ENST00000372582.1	+	11	2808	c.2052T>G	c.(2050-2052)gaT>gaG	p.D684E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D684E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	684					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTACCAGTGATATTTGGTAGT	0.378																																																	0													71	71	71					X																	105011645		2203	4299	6502	SO:0001583	missense	0			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.2052T>G	X.37:g.105011645T>G	ENSP00000361663:p.Asp684Glu		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	p.D684E	ENST00000372582.1	37	c.2052	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	T	9.807	1.182190	0.21787	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04809	3.85;3.85;3.55	5.83	2.18	0.27775	.	0.000000	0.64402	D	0.000001	T	0.04907	0.0132	L	0.60455	1.87	0.51233	D	0.999914	P	0.44690	0.841	B	0.39465	0.3	T	0.48422	-0.9037	10	0.09338	T	0.73	.	8.4941	0.33117	0.0:0.226:0.0:0.774	.	684	Q9NP60	IRPL2_HUMAN	E	684;684;289	ENSP00000361663:D684E;ENSP00000344976:D684E;ENSP00000445576:D289E	ENSP00000344976:D684E	D	+	3	2	IL1RAPL2	104898301	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	0.880000	0.28159	0.022000	0.15160	-0.335000	0.08231	GAT	IL1RAPL2	-	NULL	ENSG00000189108		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	-	0	11	0	T	NM_017416		105011645	1	tier1	-	no_errors	ENST00000344799	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	G	G	105011645	T	G	105011645	3	3	71	1	0	0	0	0	1	0	0	0	7689	1403	49	4	2090	4	IL1RAPL2	23	105011645	Missense_Mutation	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	66931650	105011645	50258915	177	19308											
RBMX2	51634	genome.wustl.edu	37	chrX	129536265	129536265	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatcaacgagctgaaTgaacgagaggtccagcttgg	13	7	13	8	2	1	4	1	3	0	1	2	6	2	4	1	2	5	3	1	2	4	1			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:129536265T>C	ENST00000305536.6	+	2	106	c.42T>C	c.(40-42)aaT>aaC	p.N14N	RBMX2_ENST00000469953.1_3'UTR|RBMX2_ENST00000370947.1_Silent_p.N14N	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	14							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ACGAGCTGAATGAACGAGAGG	0.572																																																	0													42	38	39					X																	129536265		1922	4107	6029	SO:0001819	synonymous_variant	0			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"RNA binding motif (RRM) containing"	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.42T>C	X.37:g.129536265T>C			A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N14	ENST00000305536.6	37	c.42	CCDS43993.1	X																																																																																			RBMX2	-	NULL	ENSG00000134597		0.572	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	-	0	68	0	T	NM_016024		129536265	1	tier1	-	no_errors	ENST00000305536	ensembl	human	known	74_37	silent	35.90	25	14	SNP	1.000	C	C	129536265	T	C	129536265	2	2	71	1	0	0	0	0	0	0	0	1	13197	1461	51	4		4	RBMX2	23	129536265	Silent	SNP	T	TCGA-L5-A88S-01A-11D-A36J-09	24524620	129536265	25734295	178	19309											
AFF2	2334	genome.wustl.edu	37	chrX	148044441	148044441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactgaaggcaaattctgtGctactttcaaagggatatcg	13	11	10	7	1	2	1	1	1	1	0	3	3	2	2	0	2	3	2	0	2	6	4			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:148044441G>T	ENST00000370460.2	+	13	3366	c.2887G>T	c.(2887-2889)Gct>Tct	p.A963S	AFF2_ENST00000342251.3_Missense_Mutation_p.A930S|AFF2_ENST00000370457.5_Missense_Mutation_p.A930S|AFF2_ENST00000286437.5_Missense_Mutation_p.A604S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	963					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATTCTGTGCTACTTTCAA	0.378																																																	0													97	84	88					X																	148044441		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2887G>T	X.37:g.148044441G>T	ENSP00000359489:p.Ala963Ser		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A963S	ENST00000370460.2	37	c.2887	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565255	0.27915	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.35	2.35	0.29111	.	0.835164	0.10748	N	0.638630	T	0.37237	0.0996	N	0.04090	-0.28	0.29352	N	0.865263	B;B;B;B;B;B	0.20550	0.046;0.037;0.037;0.037;0.037;0.046	B;B;B;B;B;B	0.22152	0.038;0.015;0.015;0.015;0.015;0.026	T	0.24657	-1.0154	10	0.11794	T	0.64	.	11.0225	0.47726	0.0:0.0:0.3868:0.6132	.	604;928;930;924;953;963	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	S	963;930;930;604	ENSP00000359489:A963S;ENSP00000359486:A930S;ENSP00000345459:A930S;ENSP00000286437:A604S	ENSP00000286437:A604S	A	+	1	0	AFF2	147852137	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.487000	0.35540	0.671000	0.31185	-0.237000	0.12165	GCT	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2		0	28	0	G	NM_002025		148044441	1			no_errors	ENST00000370460	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T	T	148044441	G	T	148044441	3	4	71	1	0	0	0	0	1	0	0	0	357	1319	46	3	2992	3	AFF2	23	148044441	Missense_Mutation	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	18508176	148044441	7226119	179	19310											
MAMLD1	10046	genome.wustl.edu	37	chrX	149680831	149680831	+	3'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcacaagtgcccgctGcgatgggaacacaagtgccc	10	4	15	12	2	0	0	0	0	0	0	0	3	0	2	2	3	4	2	2	3	3	0			TCGA-L5-A88S-01A-11D-A36J-09	TCGA-L5-A88S-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	95411ce0-7179-4a2d-898b-61c3a34914a5	bdec0424-10f1-43a6-85ce-175c9db002fc	g.chrX:149680831G>T	ENST00000370401.2	+	0	3237				MAMLD1_ENST00000432680.2_Missense_Mutation_p.A829S|MAMLD1_ENST00000426613.2_3'UTR|MAMLD1_ENST00000262858.5_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCCCGCTGCGATGGGAAC	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.*602G>T	X.37:g.149680831G>T			B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.A829S	ENST00000370401.2	37	c.2485	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	-	7.608	0.674194	0.14841	.	.	ENSG00000013619	ENST00000432680	T	0.63255	-0.03	4.52	-6.81	0.01704	.	.	.	.	.	T	0.30479	0.0766	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37197	-0.9716	9	0.07325	T	0.83	.	8.2773	0.31879	0.7573:0.1129:0.1298:0.0	.	829	Q13495-3	.	S	829	ENSP00000414517:A829S	ENSP00000414517:A829S	A	+	1	0	MAMLD1	149431489	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.389000	0.20751	-1.296000	0.02353	-0.718000	0.03613	GCG	MAMLD1	-	NULL	ENSG00000013619		0.627	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0	47	0	G	NM_005491		149680831	1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	149680831	G	T	149680831	1	4	71	0	1	0	0	0	0	0	0	0	9246	1319	46	3		3	MAMLD1	23	149680831	3'UTR	SNP	G	TCGA-L5-A88S-01A-11D-A36J-09	1636390	149680831	5589729	180	19311											
SMPDL3B	27293	genome.wustl.edu	37	chr1	28271750	28271750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcccctgcagggaagttCtggcacatcgctgacctgca	7	11	10	13	1	1	1	0	1	1	0	3	2	2	2	3	2	2	5	3	2	1	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:28271750C>T	ENST00000373894.3	+	2	260	c.69C>T	c.(67-69)ttC>ttT	p.F23F	SMPDL3B_ENST00000373888.4_Silent_p.F23F|RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.F23F|SMPDL3B_ENST00000466793.1_3'UTR	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	23					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		CAGGGAAGTTCTGGCACATCG	0.602																																																	0													66	63	64					1																	28271750		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.69C>T	1.37:g.28271750C>T			B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.F23	ENST00000373894.3	37	c.69	CCDS30655.1	1																																																																																			SMPDL3B	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000130768		0.602	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	-	0	37	0	C	NM_014474		28271750	1	tier1	-	no_errors	ENST00000373894	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	T	T	28271750	C	T	28271750	2	4	72	1	0	0	0	0	0	0	0	1	14854	912	32	3		3	SMPDL3B	1	28271750	Silent	SNP	C	TCGA-L5-A88T-01A-11D-A351-09		28271750	220978871	1	19312											
MACF1	23499	genome.wustl.edu	37	chr1	39951255	39951255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggagtcgggctgggagtcGagccgggagtcgagccagca	7	5	20	9	4	0	0	0	0	0	0	3	5	0	3	2	4	3	2	2	4	0	0	rs554832714		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:39951255G>A	ENST00000372915.3	+	97	22043	c.21956G>A	c.(21955-21957)cGa>cAa	p.R7319Q	MACF1_ENST00000361689.2_Missense_Mutation_p.R5361Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R5361Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5869Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7523Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R5361Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R5231Q|MACF1_ENST00000564288.1_Missense_Mutation_p.R7486Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7319	4 X 4 AA tandem repeats of [GS]-S-R-[AR].|C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			gctgggagtcgagccgggagt	0.542													G|||	1	0.000199681	0	0	5008	,	,		16059	0.001		0	False		,,,				2504	0																0													37	43	41					1																	39951255		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21956G>A	1.37:g.39951255G>A	ENSP00000362006:p.Arg7319Gln		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R5361Q	ENST00000372915.3	37	c.16082		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.641085|2.641085	0.47153|0.47153	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115;ENST00000442046|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218	.|T;T;T;T;T;T	.|0.64618	.|-0.08;-0.0;-0.08;-0.11;0.09;1.09	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.52532	.|D	.|0.000063	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.38745	.|0.645;0.147;0.062;0.005	.|B;B;B;B	.|0.32805	.|0.153;0.038;0.007;0.002	T|T	0.53486|0.53486	-0.8432|-0.8432	5|9	.|.	.|.	.|.	.|.	18.2677|18.2677	0.90057|0.90057	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|7319;5361;5869;298	.|Q9UPN3;F8W8Q1;Q96PK2;B1ANQ7	.|MACF1_HUMAN;.;MACF4_HUMAN;.	K|Q	474;299|5361;7319;5361;5361;5231;5869;275	.|ENSP00000439537:R5361Q;ENSP00000362006:R7319Q;ENSP00000354573:R5361Q;ENSP00000313438:R5361Q;ENSP00000444364:R5231Q;ENSP00000289893:R5869Q	.|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39723842|39723842	0.913000|0.913000	0.31002|0.31002	0.988000|0.988000	0.46212|0.46212	0.991000|0.991000	0.79684|0.79684	2.694000|2.694000	0.47035|0.47035	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GAG|CGA	MACF1	-	NULL	ENSG00000127603		0.542	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	84	0	G	NM_033044		39951255	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.989	A	A	39951255	G	A	39951255	3	1	72	1	0	0	0	0	1	0	0	0	9180	1058	37	1	22629	1	MACF1	1	39951255	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	11679505	39951255	209299366	2	19313											
L1TD1	54596	genome.wustl.edu	37	chr1	62675655	62675657	+	In_Frame_Del	DEL	GGA	GGA	-																															gatgaagatacctcagggctGgaggaggaggaggaagagcc																								rs532563709|rs199552452		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:62675655_62675657delGGA	ENST00000498273.1	+	4	1504_1506	c.1209_1211delGGA	c.(1207-1212)ctggag>ctg	p.E409del	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	409	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CCTCAGGGCTggaggaggaggag	0.537																																																	0																																										SO:0001651	inframe_deletion	0			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1209_1211delGGA	1.37:g.62675664_62675666delGGA	ENSP00000419901:p.Glu409del		Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Del	DEL	pfam_Transposase_22,superfamily_STAT_TF_coiled-coil	p.E407in_frame_del	ENST00000498273.1	37	c.1209_1211	CCDS619.1	1																																																																																			L1TD1	-	NULL	ENSG00000240563		0.537	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	HGNC	protein_coding	OTTHUMT00000024688.1		0	33	0	GGA	NM_019079		62675657	1	tier1		no_errors	ENST00000498273	ensembl	human	known	74_37	in_frame_del	8.51	43	4	DEL	0.002:0.001:0.000	-	-	62675657	GGA	-	62675655	7	5	72	1	0	1	0	1	0	0	0	0	8617	1335	47	0	1215	0	L1TD1	1	62675655	In_Frame_Del	DEL	GGA	TCGA-L5-A88T-01A-11D-A351-09	22724400	62675655	186574966	3	19314											
C1orf173	127254	genome.wustl.edu	37	chr1	75038472	75038472	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttcctctcccccaagAattgcctcttcagaaccgtc	7	11	7	16	1	3	2	1	0	2	2	6	2	4	2	5	1	2	2	5	1	3	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:75038472A>G	ENST00000326665.5	-	14	3140	c.2922T>C	c.(2920-2922)atT>atC	p.I974I	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		974	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCCCCAAGAATTGCCTCTT	0.522																																																	0													131	120	124					1																	75038472		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000326665.5:c.2922T>C	1.37:g.75038472A>G			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.I974	ENST00000326665.5	37	c.2922	CCDS30755.1	1																																																																																			C1orf173	-	NULL	ENSG00000178965		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	56	0	A			75038472	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	silent	10.34	52	6	SNP	0.000	G	G	75038472	A	G	75038472	2	3	72	1	0	0	0	0	0	0	0	1	2021	242	9	4		4	C1orf173	1	75038472	Silent	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	12362817	75038472	174212149	4	19315											
C1orf173	127254	genome.wustl.edu	37	chr1	75086434	75086434	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctttttcaagtagtttGcctttgtagacacaaaggtt	10	16	8	7	0	1	1	1	0	0	1	1	1	1	1	2	1	2	5	2	1	5	8			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:75086434G>T	ENST00000326665.5	-	8	1202	c.984C>A	c.(982-984)ggC>ggA	p.G328G	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.G131G	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		328										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAAGTAGTTTGCCTTTGTAGA	0.348																																																	0													106	102	103					1																	75086434		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000326665.5:c.984C>A	1.37:g.75086434G>T			Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	NULL	p.G328	ENST00000326665.5	37	c.984	CCDS30755.1	1																																																																																			C1orf173	-	NULL	ENSG00000178965		0.348	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1		0	41	0	G			75086434	-1			no_errors	ENST00000326665	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.998	T	T	75086434	G	T	75086434	2	4	72	1	0	0	0	0	0	0	0	1	2021	1306	46	3		3	C1orf173	1	75086434	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	47962	75086434	174164187	5	19316											
FAM102B	284611	genome.wustl.edu	37	chr1	109154834	109154834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaacctggcagagtttgCtggatcaggaaataccactc	12	10	9	10	0	2	1	1	0	1	1	3	3	2	3	2	3	3	3	2	3	4	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:109154834C>T	ENST00000370035.3	+	4	663	c.323C>T	c.(322-324)gCt>gTt	p.A108V	FAM102B_ENST00000405454.1_Missense_Mutation_p.A108V	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	108										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GCAGAGTTTGCTGGATCAGGA	0.378																																																	0													109	108	108					1																	109154834		2203	4300	6503	SO:0001583	missense	0			CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"sym-3 homolog B (C. elegans)"						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.323C>T	1.37:g.109154834C>T	ENSP00000359052:p.Ala108Val		A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	pfam_NT-C2	p.A108V	ENST00000370035.3	37	c.323	CCDS30786.2	1	.	.	.	.	.	.	.	.	.	.	C	35	5.542270	0.96474	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.44881	0.91;0.91	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66188	-0.5986	10	0.19147	T	0.46	-14.6755	19.0387	0.92989	0.0:1.0:0.0:0.0	.	108	Q5T8I3	F102B_HUMAN	V	108	ENSP00000359052:A108V;ENSP00000386084:A108V	ENSP00000359052:A108V	A	+	2	0	FAM102B	108956357	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.805000	0.86005	2.500000	0.84329	0.655000	0.94253	GCT	FAM102B	-	pfam_NT-C2	ENSG00000162636		0.378	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102B	HGNC	protein_coding	OTTHUMT00000030188.3	-	0	84	0	C	NM_001010883		109154834	1	tier1	-	no_errors	ENST00000370035	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	109154834	C	T	109154834	3	4	72	1	0	0	0	0	1	0	0	0	5402	797	28	3	337	3	FAM102B	1	109154834	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	34068400	109154834	140095787	6	19317											
CD160	11126	genome.wustl.edu	37	chr1	145698977	145698977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggccacaaggctggtgaCcagcattacccagacctttt	11	8	10	12	0	0	2	0	1	0	1	0	2	0	2	4	3	2	2	4	3	3	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:145698977C>G	ENST00000369288.2	-	5	731	c.514G>C	c.(514-516)Gtc>Ctc	p.V172L	CD160_ENST00000369290.1_Missense_Mutation_p.V63L|CD160_ENST00000235933.6_Missense_Mutation_p.V172L|CD160_ENST00000401557.3_Missense_Mutation_p.V172L	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	172					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AGGCTGGTGACCAGCATTACC	0.478																																					Colon(182;1122 1999 4065 44014 53024)												0													147	117	127					1																	145698977		2203	4300	6503	SO:0001583	missense	0			AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"CD molecules"	17013	protein-coding gene	gene with protein product		604463	"CD160 antigen"			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.514G>C	1.37:g.145698977C>G	ENSP00000358294:p.Val172Leu			Missense_Mutation	SNP	NULL	p.V172L	ENST00000369288.2	37	c.514	CCDS923.1	1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489606	0.44249	.	.	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000369290;ENST00000401557	T;T;T	0.52057	0.68;0.68;0.68	4.6	0.389	0.16269	.	0.985840	0.08226	N	0.978301	T	0.14270	0.0345	L	0.29908	0.895	0.24516	N	0.994184	B;B	0.17667	0.023;0.008	B;B	0.17722	0.019;0.009	T	0.34054	-0.9844	10	0.87932	D	0	-0.1941	3.3347	0.07097	0.1606:0.3839:0.3594:0.096	.	63;172	Q5T2V6;O95971	.;BY55_HUMAN	L	172;172;63;172	ENSP00000235933:V172L;ENSP00000358294:V172L;ENSP00000385199:V172L	ENSP00000235933:V172L	V	-	1	0	CD160	144410334	0.105000	0.21958	0.959000	0.39883	0.991000	0.79684	-0.150000	0.10189	-0.014000	0.14175	0.655000	0.94253	GTC	CD160	-	NULL	ENSG00000117281		0.478	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CD160	HGNC	protein_coding	OTTHUMT00000038532.2	-	0	102	0	C	NM_007053		145698977	-1	tier1	-	no_errors	ENST00000235933	ensembl	human	known	74_37	missense	7.14	117	9	SNP	0.947	G	G	145698977	C	G	145698977	3	3	72	1	0	0	0	0	1	0	0	0	2973	507	18	5	39	5	CD160	1	145698977	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	36544143	145698977	103551644	7	19318											
FLG	2312	genome.wustl.edu	37	chr1	152281402	152281402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgacgcagcctgtccaCgagaggaagactctgtgtga	10	7	15	9	2	1	4	0	2	1	2	2	7	2	6	2	2	1	1	2	2	1	0	rs150720370		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:152281402C>T	ENST00000368799.1	-	3	5995	c.5960G>A	c.(5959-5961)cGt>cAt	p.R1987H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1987	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R1987H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCTGTCCACGAGAGGAAGA	0.572									Ichthyosis																																								1	Substitution - Missense(1)	prostate(1)						C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	565	449	488		5960	-3.3	0	1	dbSNP_134	488	0,8600		0,0,4300	no	missense	FLG	NM_002016.1	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1987/4062	152281402	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5960G>A	1.37:g.152281402C>T	ENSP00000357789:p.Arg1987His		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.R1987H	ENST00000368799.1	37	c.5960	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	2.436	-0.329840	0.05314	4.54E-4	0.0	ENSG00000143631	ENST00000368799	T	0.00940	5.52	1.66	-3.32	0.04973	.	.	.	.	.	T	0.00271	0.0008	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.36432	-0.9748	9	0.39692	T	0.17	.	3.6898	0.08341	0.0:0.2542:0.2119:0.5339	.	1987	P20930	FILA_HUMAN	H	1987	ENSP00000357789:R1987H	ENSP00000357789:R1987H	R	-	2	0	FLG	150548026	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-1.207000	0.02637	-0.915000	0.02750	CGT	FLG	-	NULL	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	323	0	C	NM_002016		152281402	-1	tier1	rs150720370	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	5.14	277	15	SNP	0.000	T	T	152281402	C	T	152281402	3	4	72	1	0	0	0	0	1	0	0	0	5944	536	19	1	6229	1	FLG	1	152281402	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	6582425	152281402	96969219	8	19319											
TTC24	164118	genome.wustl.edu	37	chr1	156551658	156551658	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcctgctaccaggctctgGgacagcctgagctagcagcc	8	6	13	14	0	1	1	0	1	1	0	1	3	1	2	4	2	7	4	4	2	2	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:156551658G>T	ENST00000368237.3	+	1	502	c.502G>T	c.(502-504)Gga>Tga	p.G168*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.G168*			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	168										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCAGGCTCTGGGACAGCCTGA	0.652																																																	0													8	10	9					1																	156551658		686	1587	2273	SO:0001587	stop_gained	0				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"Tetratricopeptide (TTC) repeat domain containing"	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.502G>T	1.37:g.156551658G>T	ENSP00000357220:p.Gly168*		Q5T3H7	Nonsense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G168*	ENST00000368237.3	37	c.502	CCDS53379.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.522585	0.96431	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	.	.	.	4.58	4.58	0.56647	.	0.000000	0.40222	N	0.001145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.4368	0.21827	0.097:0.1862:0.7168:0.0	.	.	.	.	X	168	.	ENSP00000357219:G168X	G	+	1	0	TTC24	154818282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.586000	0.53950	2.392000	0.81423	0.462000	0.41574	GGA	TTC24	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000187862		0.652	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1		0	64	0	G	XM_089384		156551658	1			no_errors	ENST00000368236	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.997	T	T	156551658	G	T	156551658	4	4	72	1	0	0	0	0	0	1	0	0	16741	1233	43	3	504	3	TTC24	1	156551658	Nonsense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	4270256	156551658	92698963	9	19320											
TDRD5	163589	genome.wustl.edu	37	chr1	179631288	179631288	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagtgaccataggtgAtgatatttgggatgagaact	12	11	14	4	0	1	4	1	4	0	1	1	7	1	6	1	3	1	0	1	3	3	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:179631288A>C	ENST00000367614.1	+	14	2569	c.2210A>C	c.(2209-2211)gAt>gCt	p.D737A	TDRD5_ENST00000444136.1_Missense_Mutation_p.D791A|TDRD5_ENST00000294848.8_Missense_Mutation_p.D737A	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	737					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACCATAGGTGATGATATTTGG	0.423																																																	0													168	143	152					1																	179631288		2203	4300	6503	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2210A>C	1.37:g.179631288A>C	ENSP00000356586:p.Asp737Ala		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.D791A	ENST00000367614.1	37	c.2372	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550520	0.45383	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.38077	2.11;2.11;2.42;1.16	5.41	3.11	0.35812	.	0.218599	0.36409	N	0.002608	T	0.32912	0.0845	M	0.64997	1.995	0.28936	N	0.89126	P;B	0.43662	0.814;0.209	B;B	0.40864	0.342;0.053	T	0.22730	-1.0208	10	0.44086	T	0.13	-24.2926	6.9004	0.24279	0.8162:0.0:0.1838:0.0	.	791;737	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	A	737;737;791;247	ENSP00000356586:D737A;ENSP00000294848:D737A;ENSP00000406052:D791A;ENSP00000410744:D247A	ENSP00000294848:D737A	D	+	2	0	TDRD5	177897911	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	1.290000	0.33319	0.458000	0.26988	0.528000	0.53228	GAT	TDRD5	-	NULL	ENSG00000162782		0.423	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	-	0	125	0	A	NM_173533		179631288	1	tier1	-	no_errors	ENST00000444136	ensembl	human	known	74_37	missense	14.41	95	16	SNP	0.998	C	C	179631288	A	C	179631288	3	2	72	1	0	0	0	0	1	0	0	0	15780	333	12	4	2260	4	TDRD5	1	179631288	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	23079630	179631288	69619333	10	19321											
IL19	29949	genome.wustl.edu	37	chr1	207010152	207010152	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatcaaaagagccatcGtgagtatgggttggtgtaaa	16	9	12	4	1	1	3	1	1	0	2	2	3	1	3	1	2	1	3	1	2	7	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:207010152G>A	ENST00000270218.6	+	3	1083		c.e3+1		IL19_ENST00000340758.2_Splice_Site	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19						apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			AAGAGCCATCGTGAGTATGGG	0.438																																																	0													155	148	150					1																	207010152		2203	4300	6503	SO:0001630	splice_region_variant	0			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.144+1G>A	1.37:g.207010152G>A			B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Splice_Site	SNP	-	e2+1	ENST00000270218.6	37	c.258+1	CCDS1469.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414954	0.62511	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6813	0.69020	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL19	205076775	0.999000	0.42202	0.950000	0.38849	0.902000	0.53008	4.489000	0.60309	2.533000	0.85409	0.561000	0.74099	.	IL19	-	-	ENSG00000142224		0.438	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL19	HGNC	protein_coding	OTTHUMT00000088567.2	-	0	106	0	G	NM_153758	Intron	207010152	1	tier1	-	no_errors	ENST00000340758	ensembl	human	known	74_37	splice_site	9.20	79	8	SNP	0.981	A	A	207010152	G	A	207010152	5	1	72	1	0	0	0	0	0	0	1	0	7676	1159	40	1	265	1	IL19	1	207010152	Splice_Site	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	27378864	207010152	42240469	11	19322											
FCAMR	83953	genome.wustl.edu	37	chr1	207133114	207133114	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacaggagccagggtccGagagctgctttcatcttctg	9	9	13	10	1	3	2	1	0	2	2	4	5	4	3	2	2	3	2	2	2	0	2	rs538455882		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:207133114G>T	ENST00000324852.4	-	7	1957	c.1483C>A	c.(1483-1485)Cgg>Agg	p.R495R	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_Silent_p.L227L|FCAMR_ENST00000400962.3_Silent_p.L227L	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	450					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GCCAGGGTCCGAGAGCTGCTT	0.517																																					Ovarian(199;1883 2142 16966 44409 45154)												0													127	125	126					1																	207133114		1568	3582	5150	SO:0001819	synonymous_variant	0			AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1483C>A	1.37:g.207133114G>T			Q32M82|Q8WWV5|Q96SA2	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.L227	ENST00000324852.4	37	c.681	CCDS53468.1	1																																																																																			FCAMR	-	NULL	ENSG00000162897		0.517	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FCAMR	HGNC	protein_coding	OTTHUMT00000088969.2		0	65	0	G	NM_032029		207133114	-1			no_errors	ENST00000400962	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	T	T	207133114	G	T	207133114	2	4	72	1	0	0	0	0	0	0	0	1	5794	1057	37	2		2	FCAMR	1	207133114	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	122962	207133114	42117507	12	19323											
EPRS	2058	genome.wustl.edu	37	chr1	220160717	220160717	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgtgcctttagctgaagGagttcttgaacagctatatc	10	14	9	8	0	1	2	0	2	1	0	2	3	1	3	1	1	5	3	1	1	6	7			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr1:220160717G>T	ENST00000366923.3	-	20	3074	c.2805C>A	c.(2803-2805)ctC>ctA	p.L935L	snoU13_ENST00000459217.1_RNA	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	935	3 X 57 AA approximate repeats.|WHEP-TRS 3.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTAGCTGAAGGAGTTCTTGAA	0.378																																																	0													71	70	70					1																	220160717		2203	4300	6503	SO:0001819	synonymous_variant	0			X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"Aminoacyl tRNA synthetases / Class I", "Aminoacyl tRNA synthetases / Class II"	3418	protein-coding gene	gene with protein product	"glutamate tRNA ligase", "proline tRNA ligase"	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2805C>A	1.37:g.220160717G>T			A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.L935	ENST00000366923.3	37	c.2805	CCDS31027.1	1																																																																																			EPRS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000136628		0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	HGNC	protein_coding	OTTHUMT00000091133.2	-	0	45	0	G	NM_004446		220160717	-1	tier1	-	no_errors	ENST00000366923	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.309	T	T	220160717	G	T	220160717	2	4	72	1	0	0	0	0	0	0	0	1	5207	1161	41	3		3	EPRS	1	220160717	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	13027603	220160717	29089904	13	19324											
OTOF	9381	genome.wustl.edu	37	chr2	26725257	26725257	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctagccgaatggccagAtggtcaaggtcttccatctc	8	11	9	13	1	4	1	1	0	3	1	7	2	5	1	4	3	1	0	4	3	3	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:26725257A>G	ENST00000272371.2	-	7	747	c.621T>C	c.(619-621)caT>caC	p.H207H	OTOF_ENST00000403946.3_Silent_p.H207H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	207					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATGGCCAGATGGTCAAGGT	0.542																																					GBM(102;732 1451 20652 24062 31372)												0													99	80	86					2																	26725257		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.621T>C	2.37:g.26725257A>G			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.H207	ENST00000272371.2	37	c.621	CCDS1725.1	2																																																																																			OTOF	-	NULL	ENSG00000115155		0.542	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	81	0	A			26725257	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.995	G	G	26725257	A	G	26725257	2	3	72	1	0	0	0	0	0	0	0	1	11342	330	12	4		4	OTOF	2	26725257	Silent	SNP	A	TCGA-L5-A88T-01A-11D-A351-09		26725257	216474116	14	19325											
XDH	7498	genome.wustl.edu	37	chr2	31605937	31605937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctctgaacacctctgtcTtttgggcaggaagcttagca	8	11	9	13	0	3	1	0	1	3	0	3	2	3	2	3	2	3	3	3	2	3	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:31605937T>C	ENST00000379416.3	-	11	1016	c.968A>G	c.(967-969)aAg>aGg	p.K323R	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	323	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CACCTCTGTCTTTTGGGCAGG	0.572																																					Colon(66;682 1445 30109 40147)												0													87	79	82					2																	31605937		2203	4300	6503	SO:0001583	missense	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"xanthene dehydrogenase"			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.968A>G	2.37:g.31605937T>C	ENSP00000368727:p.Lys323Arg		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.K323R	ENST00000379416.3	37	c.968	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206380	0.79127	.	.	ENSG00000158125	ENST00000379416	T	0.23147	1.92	5.65	4.45	0.53987	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.193799	0.56097	N	0.000034	T	0.19446	0.0467	N	0.25245	0.725	0.28749	N	0.901546	B	0.14805	0.011	B	0.25291	0.059	T	0.13388	-1.0511	10	0.54805	T	0.06	.	11.604	0.51020	0.0:0.0716:0.0:0.9284	.	323	P47989	XDH_HUMAN	R	323	ENSP00000368727:K323R	ENSP00000368727:K323R	K	-	2	0	XDH	31459441	0.971000	0.33674	0.054000	0.19295	0.656000	0.38851	2.779000	0.47734	0.928000	0.37168	0.368000	0.22195	AAG	XDH	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu	ENSG00000158125		0.572	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0	85	0	T	NM_000379		31605937	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.696	C	C	31605937	T	C	31605937	3	2	72	1	0	0	0	0	1	0	0	0	17475	1609	56	4	3137	4	XDH	2	31605937	Missense_Mutation	SNP	T	TCGA-L5-A88T-01A-11D-A351-09	4880680	31605937	211593436	15	19326											
DHX57	90957	genome.wustl.edu	37	chr2	39085815	39085815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccctacctgtttcattcgGaactgcttgcagattttacc	8	15	6	12	1	1	1	1	0	0	1	2	2	1	2	3	1	6	3	3	1	4	7	rs150452250		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:39085815G>T	ENST00000295373.6	-	6	1701	c.1575C>A	c.(1573-1575)ttC>ttA	p.F525L	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	525							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.F525F(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTTTCATTCGGAACTGCTTGC	0.413																																					Melanoma(191;1090 2095 4375 23729 47341)												1	Substitution - coding silent(1)	skin(1)											218	203	208					2																	39085815		2203	4300	6503	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1575C>A	2.37:g.39085815G>T	ENSP00000295373:p.Phe525Leu		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F525L	ENST00000295373.6	37	c.1575	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169066	0.78339	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.09817	2.94	5.7	2.5	0.30297	.	0.116878	0.38217	N	0.001766	T	0.12263	0.0298	L	0.29908	0.895	0.47659	D	0.999488	D;P	0.63880	0.993;0.696	P;B	0.54346	0.749;0.168	T	0.15492	-1.0435	10	0.21540	T	0.41	.	9.382	0.38320	0.3381:0.0:0.6619:0.0	.	525;525	Q6P158-2;Q6P158	.;DHX57_HUMAN	L	525;423	ENSP00000295373:F525L	ENSP00000295373:F525L	F	-	3	2	DHX57	38939319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.269000	0.51592	0.738000	0.32606	0.655000	0.94253	TTC	DHX57	-	NULL	ENSG00000163214		0.413	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	-	0	45	0	G	NM_145646		39085815	-1	tier1	-	no_errors	ENST00000295373	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.956	T	T	39085815	G	T	39085815	3	4	72	1	0	0	0	0	1	0	0	0	4527	1165	41	3	2661	3	DHX57	2	39085815	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	7479878	39085815	204113558	16	19327											
ACTR3	10096	genome.wustl.edu	37	chr2	114691892	114691892	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcttggacctcaagaCaagtaggagaacggacgttg	12	8	12	9	2	2	2	1	0	1	2	2	5	2	4	1	3	2	3	1	3	4	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:114691892C>G	ENST00000263238.2	+	6	789	c.469C>G	c.(469-471)Caa>Gaa	p.Q157E	ACTR3_ENST00000535589.2_Missense_Mutation_p.Q106E|ACTR3_ENST00000536059.1_Missense_Mutation_p.Q95E	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	157					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron differentiation (GO:0045666)|regulation of myosin II filament organization (GO:0043519)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|spindle localization (GO:0051653)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|hemidesmosome (GO:0030056)|lamellipodium (GO:0030027)|membrane (GO:0016020)|podosome (GO:0002102)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GACCTCAAGACAAGTAGGAGA	0.398																																																	0													251	232	238					2																	114691892		2203	4300	6503	SO:0001583	missense	0			AF006083	CCDS33277.1, CCDS63000.1	2q14.1	2010-07-20	2001-11-28		ENSG00000115091	ENSG00000115091			170	protein-coding gene	gene with protein product		604222	"ARP3 (actin-related protein 3, yeast) homolog"			9230079	Standard	NM_005721		Approved	ARP3	uc002tkx.2	P61158	OTTHUMG00000153497	ENST00000263238.2:c.469C>G	2.37:g.114691892C>G	ENSP00000263238:p.Gln157Glu		P32391|Q53QM2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.Q157E	ENST00000263238.2	37	c.469	CCDS33277.1	2	.	.	.	.	.	.	.	.	.	.	C	17.69	3.451926	0.63290	.	.	ENSG00000115091	ENST00000263238;ENST00000536059;ENST00000544784;ENST00000535589	D;D;D	0.94758	-3.51;-3.37;-3.43	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	N	0.17723	0.515	0.58432	D	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	D	0.84817	0.0794	10	0.29301	T	0.29	-17.7664	18.4376	0.90652	0.0:1.0:0.0:0.0	.	95;157	F5H3P5;P61158	.;ARP3_HUMAN	E	157;95;28;106	ENSP00000263238:Q157E;ENSP00000445257:Q95E;ENSP00000444987:Q106E	ENSP00000263238:Q157E	Q	+	1	0	ACTR3	114408362	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.593000	0.82686	2.592000	0.87571	0.585000	0.79938	CAA	ACTR3	-	pfam_Actin-related,smart_Actin-related	ENSG00000115091		0.398	ACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3	HGNC	protein_coding	OTTHUMT00000331366.2	-	0	84	0	C	NM_005721		114691892	1	tier1	-	no_errors	ENST00000263238	ensembl	human	known	74_37	missense	11.43	61	8	SNP	1.000	G	G	114691892	C	G	114691892	3	3	72	1	0	0	0	0	1	0	0	0	212	479	17	5	491	5	ACTR3	2	114691892	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	75606077	114691892	128507481	17	19328											
SAP130	79595	genome.wustl.edu	37	chr2	128699655	128699655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaagcagcttcaggacacgGtctttatgatctaaaacctt	12	13	7	9	1	3	1	1	1	2	0	3	2	3	2	1	2	3	2	1	2	4	6			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:128699655G>T	ENST00000259235.3	-	20	3201	c.3072C>A	c.(3070-3072)gaC>gaA	p.D1024E	SAP130_ENST00000357702.5_Missense_Mutation_p.D1059E|SAP130_ENST00000259234.6_Missense_Mutation_p.D1032E	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	1024	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.D1024D(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCAGGACACGGTCTTTATGAT	0.408																																																	1	Substitution - coding silent(1)	large_intestine(1)											175	154	161					2																	128699655		2203	4300	6503	SO:0001583	missense	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.3072C>A	2.37:g.128699655G>T	ENSP00000259235:p.Asp1024Glu		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.D1059E	ENST00000259235.3	37	c.3177	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	.	6.232	0.410891	0.11812	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.96	-7.9	0.01169	.	0.135265	0.64402	N	0.000003	T	0.10723	0.0262	N	0.12182	0.205	0.28448	N	0.916453	B;B;B;B	0.12013	0.002;0.002;0.001;0.005	B;B;B;B	0.14023	0.006;0.006;0.006;0.01	T	0.34229	-0.9837	9	0.07482	T	0.82	-20.2835	4.666	0.12666	0.5898:0.0767:0.1311:0.2024	.	1059;1024;589;661	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	E	1059;1024;1032	.	ENSP00000259234:D1032E	D	-	3	2	SAP130	128416125	0.009000	0.17119	0.331000	0.25455	0.070000	0.16714	-1.287000	0.02785	-1.226000	0.02574	-1.261000	0.01458	GAC	SAP130	-	NULL	ENSG00000136715		0.408	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3		0	41	0	G	NM_024545		128699655	-1			no_errors	ENST00000357702	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.104	T	T	128699655	G	T	128699655	3	4	72	1	0	0	0	0	1	0	0	0	13876	1252	44	3	78	3	SAP130	2	128699655	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	14007763	128699655	114499718	18	19329											
POTEE	445582	genome.wustl.edu	37	chr2	131976381	131976381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcccaggtaccacgtcCgtggagaagatctggacaag	11	6	14	10	2	1	2	0	0	1	2	2	5	2	4	3	4	2	1	3	4	3	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:131976381C>T	ENST00000356920.5	+	1	500	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	POTEE_ENST00000358087.5_Missense_Mutation_p.R136C|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	136					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GTACCACGTCCGTGGAGAAGA	0.592																																																	0													67	70	69					2																	131976381		2203	4300	6503	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.406C>T	2.37:g.131976381C>T	ENSP00000439189:p.Arg136Cys		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.R136C	ENST00000356920.5	37	c.406	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	13.20	2.166157	0.38217	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53423	0.62;0.62	1.05	1.05	0.20165	.	.	.	.	.	T	0.38772	0.1053	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.49953	0.627	T	0.21314	-1.0249	9	0.87932	D	0	.	5.4993	0.16819	0.0:1.0:0.0:0.0	.	136	Q6S8J3	POTEE_HUMAN	C	136	ENSP00000439189:R136C;ENSP00000443049:R136C	ENSP00000439189:R136C	R	+	1	0	AC131180.1	131692851	0.002000	0.14202	0.007000	0.13788	0.100000	0.18952	-0.304000	0.08199	0.878000	0.35920	0.162000	0.16502	CGT	POTEE	-	NULL	ENSG00000188219		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0	284	0	C	NM_001083538		131976381	1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	6.15	290	19	SNP	0.008	T	T	131976381	C	T	131976381	3	4	72	1	0	0	0	0	1	0	0	0	12303	652	23	1	408	1	POTEE	2	131976381	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	3276726	131976381	111222992	19	19330											
POTEE	445582	genome.wustl.edu	37	chr2	132021238	132021238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccttccatcgtggggcGccccaggcagcagggcatga	6	7	13	15	2	0	1	0	1	0	0	3	1	2	1	4	4	1	3	4	4	0	2	rs549330020	byFrequency	TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:132021238G>A	ENST00000356920.5	+	15	2304	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	737	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATCGTGGGGCGCCCCAGGCAG	0.637													.|||	2	0.000399361	8e-04	0.0014	5008	,	,		19253	0		0	False		,,,				2504	0																0													3	4	4					2																	132021238		1150	2572	3722	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2210G>A	2.37:g.132021238G>A	ENSP00000439189:p.Arg737His		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.R737H	ENST00000356920.5	37	c.2210	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	7.308	0.614449	0.14129	.	.	ENSG00000188219	ENST00000356920	D	0.92048	-2.96	.	.	.	.	.	.	.	.	D	0.88262	0.6389	M	0.81497	2.545	0.80722	D	1	B	0.22146	0.065	B	0.08055	0.003	T	0.67436	-0.5671	8	0.38643	T	0.18	.	4.5331	0.12015	0.3248:0.0:0.6752:0.0	.	737	Q6S8J3	POTEE_HUMAN	H	737	ENSP00000439189:R737H	ENSP00000439189:R737H	R	+	2	0	AC131180.1	131737708	1.000000	0.71417	0.053000	0.19242	0.054000	0.15201	4.782000	0.62396	-1.702000	0.01411	-1.713000	0.00713	CGC	POTEE	-	pfam_Actin-related,smart_Actin-related	ENSG00000188219		0.637	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0	48	0	G	NM_001083538		132021238	1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	A	A	132021238	G	A	132021238	3	1	72	1	0	0	0	0	1	0	0	0	12303	1087	38	1	2268	1	POTEE	2	132021238	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	44857	132021238	111178135	20	19331											
LRP1B	53353	genome.wustl.edu	37	chr2	141459407	141459407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgacagacccgtttgCatgtgctctgccaaaaagtt	9	12	8	12	1	2	2	0	1	2	1	2	2	2	2	3	0	3	4	3	0	2	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:141459407C>T	ENST00000389484.3	-	40	7281	c.6310G>A	c.(6310-6312)Gca>Aca	p.A2104T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2104					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.A2104S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACCCGTTTGCATGTGCTCTG	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	lung(1)											158	144	149					2																	141459407		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6310G>A	2.37:g.141459407C>T	ENSP00000374135:p.Ala2104Thr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A2104T	ENST00000389484.3	37	c.6310	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393281	0.62066	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89939	-2.59	5.24	5.24	0.73138	Six-bladed beta-propeller, TolB-like (1);	0.076531	0.51477	U	0.000083	D	0.83156	0.5193	L	0.51914	1.62	0.37179	D	0.903429	P	0.39282	0.666	B	0.33339	0.162	T	0.83194	-0.0082	10	0.15066	T	0.55	.	13.7473	0.62883	0.1538:0.8462:0.0:0.0	.	2104	Q9NZR2	LRP1B_HUMAN	T	2104;2042	ENSP00000374135:A2104T	ENSP00000374135:A2104T	A	-	1	0	LRP1B	141175877	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.629000	0.54266	2.424000	0.82194	0.563000	0.77884	GCA	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	49	0	C	NM_018557		141459407	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	141459407	C	T	141459407	3	4	72	1	0	0	0	0	1	0	0	0	8990	710	25	3	7697	3	LRP1B	2	141459407	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	9438169	141459407	101739966	21	19332											
ARHGAP15	55843	genome.wustl.edu	37	chr2	144525735	144525735	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatcttcggctcagaggaAgactgacagacaagacaagc	16	5	11	9	1	2	6	1	1	1	5	3	7	2	7	0	2	1	1	0	2	4	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:144525735A>C	ENST00000295095.6	+	14	1589	c.1422A>C	c.(1420-1422)gaA>gaC	p.E474D	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	474					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GCTCAGAGGAAGACTGACAGA	0.393																																																	0													103	87	92					2																	144525735		2203	4300	6503	SO:0001583	missense	0			AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1422A>C	2.37:g.144525735A>C	ENSP00000295095:p.Glu474Asp		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E474D	ENST00000295095.6	37	c.1422	CCDS2184.1	2	.	.	.	.	.	.	.	.	.	.	A	16.71	3.198987	0.58126	.	.	ENSG00000075884	ENST00000295095	T	0.09350	2.99	5.6	5.6	0.85130	Rho GTPase activation protein (1);	0.311190	0.34460	N	0.003957	T	0.11410	0.0278	L	0.39245	1.2	0.39721	D	0.971467	B	0.28128	0.201	B	0.24155	0.051	T	0.07888	-1.0749	10	0.38643	T	0.18	.	16.0901	0.81086	1.0:0.0:0.0:0.0	.	474	Q53QZ3	RHG15_HUMAN	D	474	ENSP00000295095:E474D	ENSP00000295095:E474D	E	+	3	2	ARHGAP15	144242205	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.335000	0.72949	2.260000	0.74910	0.533000	0.62120	GAA	ARHGAP15	-	superfamily_Rho_GTPase_activation_prot	ENSG00000075884		0.393	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP15	HGNC	protein_coding	OTTHUMT00000254793.2	-	0	63	0	A	NM_018460		144525735	1	tier1	-	no_errors	ENST00000295095	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	144525735	A	C	144525735	3	2	72	1	0	0	0	0	1	0	0	0	866	69	3	4	1472	4	ARHGAP15	2	144525735	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	3066328	144525735	98673638	22	19333											
TTN	7273	genome.wustl.edu	37	chr2	179428548	179428548	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacggaaaatgtactcattAccaggaagaagtttagtaac	17	9	8	7	1	1	1	1	0	0	1	1	3	1	3	1	2	3	3	1	2	8	5			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:179428548A>G	ENST00000591111.1	-	276	77612	c.77388T>C	c.(77386-77388)ggT>ggC	p.G25796G	TTN_ENST00000342992.6_Silent_p.G24869G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.G27437G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.G18372G|TTN_ENST00000342175.6_Silent_p.G18564G|TTN_ENST00000359218.5_Silent_p.G18497G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25796	Fibronectin type-III 87. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACTCATTACCAGGAAGAA	0.443																																																	0													101	94	96					2																	179428548		1875	4120	5995	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77388T>C	2.37:g.179428548A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G24869	ENST00000591111.1	37	c.74607		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	77	0	A	NM_133378		179428548	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.954	G	G	179428548	A	G	179428548	2	3	72	1	0	0	0	0	0	0	0	1	16784	378	14	4		4	TTN	2	179428548	Silent	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	34902813	179428548	63770825	23	19334											
TTN	7273	genome.wustl.edu	37	chr2	179644145	179644145	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttattattctatattcAatttctttaataagtctctc	10	22	2	7	0	5	0	1	0	4	0	7	0	5	0	0	0	0	0	0	0	7	11			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:179644145A>T	ENST00000591111.1	-	23	3998	c.3774T>A	c.(3772-3774)atT>atA	p.I1258I	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Silent_p.I1258I|TTN_ENST00000589042.1_Silent_p.I1258I|TTN_ENST00000460472.2_Silent_p.I1212I|TTN_ENST00000342175.6_Silent_p.I1212I|TTN_ENST00000360870.5_Silent_p.I1258I|TTN_ENST00000359218.5_Silent_p.I1212I			Q8WZ42	TITIN_HUMAN	titin	33463					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTATATTCAATTTCTTTAA	0.289																																																	0													21	22	22					2																	179644145		2183	4261	6444	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3774T>A	2.37:g.179644145A>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I1258	ENST00000591111.1	37	c.3774		2																																																																																			TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.289	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	58	0	A	NM_133378		179644145	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	T	T	179644145	A	T	179644145	2	4	72	1	0	0	0	0	0	0	0	1	16784	126	5	5		5	TTN	2	179644145	Silent	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	215597	179644145	63555228	24	19335											
FAM117B	150864	genome.wustl.edu	37	chr2	203622160	203622160	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgttgatcccagagataaAggtacagtgctggaggaatg	12	10	13	6	0	0	2	0	1	0	1	1	5	1	4	1	3	2	3	1	3	4	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:203622160A>C	ENST00000392238.2	+	6	1329	c.1329A>C	c.(1327-1329)aaA>aaC	p.K443N	FAM117B_ENST00000303116.6_Splice_Site_p.K199N			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	443										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CCAGAGATAAAGGTACAGTGC	0.473																																																	0													122	111	115					2																	203622160		2203	4300	6503	SO:0001630	splice_region_variant	0			AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1330+1A>C	2.37:g.203622160A>C			Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Missense_Mutation	SNP	NULL	p.K443N	ENST00000392238.2	37	c.1329	CCDS33362.2	2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298139	0.81025	.	.	ENSG00000138439	ENST00000303116;ENST00000392238	.	.	.	5.63	5.63	0.86233	.	0.042369	0.85682	D	0.000000	T	0.63686	0.2532	L	0.49126	1.545	0.80722	D	1	P	0.52316	0.952	P	0.51701	0.677	T	0.65623	-0.6123	9	0.52906	T	0.07	-4.5806	15.8487	0.78910	1.0:0.0:0.0:0.0	.	443	Q6P1L5	F117B_HUMAN	N	199;443	.	ENSP00000306299:K199N	K	+	3	2	FAM117B	203330405	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	8.381000	0.90152	2.145000	0.66743	0.533000	0.62120	AAA	FAM117B	-	NULL	ENSG00000138439		0.473	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117B	HGNC	protein_coding	OTTHUMT00000335888.3	-	0	89	0	A	NM_173511	Missense_Mutation	203622160	1	tier1	-	no_errors	ENST00000392238	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	C	C	203622160	A	C	203622160	5	2	72	1	0	0	0	0	0	0	1	0	5429	86	3	4	1351	4	FAM117B	2	203622160	Splice_Site	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	23978015	203622160	39577213	25	19336											
CD28	940	genome.wustl.edu	37	chr2	204591394	204591394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtcgcccatgcttgtaGcgtacgacaatgcggtcaac	10	8	11	12	4	1	0	1	0	0	0	2	1	1	0	1	1	6	4	1	1	4	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:204591394G>T	ENST00000324106.8	+	2	240	c.91G>T	c.(91-93)Gcg>Tcg	p.A31S	CD28_ENST00000374481.3_Missense_Mutation_p.A31S|CD28_ENST00000374478.4_Intron|CD28_ENST00000458610.2_Missense_Mutation_p.A45S	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	31	Ig-like V-type.				apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGCTTGTAGCGTACGACAA	0.433																																																	0													96	90	92					2																	204591394		2203	4300	6503	SO:0001583	missense	0			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1653	protein-coding gene	gene with protein product	"T-cell-specific surface glycoprotein"	186760	"CD28 antigen (Tp44)"			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.91G>T	2.37:g.204591394G>T	ENSP00000324890:p.Ala31Ser		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28	p.A31S	ENST00000324106.8	37	c.91	CCDS2361.1	2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063992	0.36373	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106	T;T;T	0.79352	-1.26;-0.2;-0.2	5.78	3.0	0.34707	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.643200	0.14942	N	0.289435	T	0.77370	0.4120	L	0.52126	1.63	0.22541	N	0.999001	B	0.33318	0.408	P	0.46452	0.517	T	0.64445	-0.6406	10	0.20046	T	0.44	-22.9165	9.8745	0.41195	0.2062:0.0:0.7938:0.0	.	31	P10747	CD28_HUMAN	S	31;45;31	ENSP00000363605:A31S;ENSP00000393648:A45S;ENSP00000324890:A31S	ENSP00000324890:A31S	A	+	1	0	CD28	204299639	0.029000	0.19370	0.517000	0.27799	0.064000	0.16182	1.867000	0.39499	0.802000	0.34089	0.561000	0.74099	GCG	CD28	-	pfam_Ig_V-set	ENSG00000178562		0.433	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD28	HGNC	protein_coding	OTTHUMT00000256366.3	-	0	93	0	G	NM_006139		204591394	1	tier1	-	no_errors	ENST00000324106	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.281	T	T	204591394	G	T	204591394	3	4	72	1	0	0	0	0	1	0	0	0	3000	971	34	3	97	3	CD28	2	204591394	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	969234	204591394	38607979	26	19337											
PARD3B	117583	genome.wustl.edu	37	chr2	206305223	206305223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaattatgccagagtgaaCcactttcgggaaccatgcac	12	8	8	13	1	0	2	0	1	0	1	1	3	0	3	4	1	4	1	4	1	4	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:206305223C>G	ENST00000406610.2	+	20	3078	c.2871C>G	c.(2869-2871)aaC>aaG	p.N957K	PARD3B_ENST00000351153.1_Missense_Mutation_p.N888K|PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Missense_Mutation_p.N895K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	957					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CCAGAGTGAACCACTTTCGGG	0.473																																																	0													188	188	188					2																	206305223		2024	4185	6209	SO:0001583	missense	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2871C>G	2.37:g.206305223C>G	ENSP00000385848:p.Asn957Lys		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N957K	ENST00000406610.2	37	c.2871		2	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654330	0.47467	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153	T;T;T	0.24908	1.83;1.83;1.83	5.35	2.52	0.30459	.	0.167559	0.37178	N	0.002217	T	0.35335	0.0928	L	0.51422	1.61	0.80722	D	1	D;P;P	0.69078	0.997;0.698;0.884	D;B;B	0.75484	0.986;0.188;0.301	T	0.22347	-1.0219	10	0.14656	T	0.56	.	6.5165	0.22250	0.1275:0.6653:0.0:0.2072	.	957;888;895	Q8TEW8;E9PE87;Q8TEW8-2	PAR3L_HUMAN;.;.	K	957;895;888	ENSP00000385848:N957K;ENSP00000351618:N895K;ENSP00000317261:N888K	ENSP00000317261:N888K	N	+	3	2	PARD3B	206013468	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.970000	0.29383	0.310000	0.22990	0.467000	0.42956	AAC	PARD3B	-	NULL	ENSG00000116117		0.473	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	-	0	112	0	C	NM_057177		206305223	1	tier1	-	no_errors	ENST00000406610	ensembl	human	known	74_37	missense	6.14	107	7	SNP	1.000	G	G	206305223	C	G	206305223	3	3	72	1	0	0	0	0	1	0	0	0	11483	506	18	5	2949	5	PARD3B	2	206305223	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	1713829	206305223	36894150	27	19338											
CPO	130749	genome.wustl.edu	37	chr2	207814400	207814400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagtccatggagcctggAgacgtattcctataacatat	12	11	10	8	1	0	2	0	1	0	1	2	4	2	3	3	2	2	1	3	2	4	5	rs551716635		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:207814400A>G	ENST00000272852.3	+	2	174	c.128A>G	c.(127-129)gAg>gGg	p.E43G		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	43						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TGGAGCCTGGAGACGTATTCC	0.478													A|||	1	0.000199681	8e-04	0	5008	,	,		19104	0		0	False		,,,				2504	0																0													144	124	131					2																	207814400		2203	4300	6503	SO:0001583	missense	0				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"metallocarboxypeptidase O", "metallocarboxypeptidase C"	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.128A>G	2.37:g.207814400A>G	ENSP00000272852:p.Glu43Gly		Q2M277|Q7RTW7	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	p.E43G	ENST00000272852.3	37	c.128	CCDS2372.1	2	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287889	0.59976	.	.	ENSG00000144410	ENST00000272852	T	0.15256	2.44	4.32	4.32	0.51571	.	0.310004	0.27004	N	0.021415	T	0.11110	0.0271	N	0.19112	0.55	0.26264	N	0.978521	B	0.06786	0.001	B	0.04013	0.001	T	0.16837	-1.0389	10	0.28530	T	0.3	.	11.7374	0.51773	1.0:0.0:0.0:0.0	.	43	Q8IVL8	CBPO_HUMAN	G	43	ENSP00000272852:E43G	ENSP00000272852:E43G	E	+	2	0	CPO	207522645	0.137000	0.22531	0.935000	0.37517	0.728000	0.41692	1.292000	0.33342	1.946000	0.56461	0.374000	0.22700	GAG	CPO	-	NULL	ENSG00000144410		0.478	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPO	HGNC	protein_coding	OTTHUMT00000202040.2	-	0	85	0	A	NM_173077		207814400	1	tier1	-	no_errors	ENST00000272852	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.984	G	G	207814400	A	G	207814400	3	3	72	1	0	0	0	0	1	0	0	0	3827	304	11	4	134	4	CPO	2	207814400	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	1509177	207814400	35384973	28	19339											
GIGYF2	26058	genome.wustl.edu	37	chr2	233677201	233677201	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacagcttcacagcctacaGgtaaaaacttagattaacct	16	9	5	11	0	1	1	1	0	0	1	1	1	1	1	2	1	6	2	2	1	7	5			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr2:233677201G>T	ENST00000409547.1	+	20	2418	c.2107G>T	c.(2107-2109)Gtt>Ttt	p.V703F	GIGYF2_ENST00000409196.3_Splice_Site_p.V697F|GIGYF2_ENST00000373563.4_Splice_Site_p.V703F|GIGYF2_ENST00000452341.2_Splice_Site_p.V534F|GIGYF2_ENST00000409480.1_Splice_Site_p.V725F|GIGYF2_ENST00000409451.3_Splice_Site_p.V724F|GIGYF2_ENST00000373566.3_Splice_Site_p.V725F	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	703	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACAGCCTACAGGTAAAAACTT	0.378																																																	0													61	58	59					2																	233677201		2203	4300	6503	SO:0001630	splice_region_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2107+1G>T	2.37:g.233677201G>T			A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.V725F	ENST00000409547.1	37	c.2173	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224435	0.58668	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.74421	-0.66;-0.66;-0.66;-0.66;-0.83;-0.66;-0.66;-0.84;-0.54	5.05	5.05	0.67936	.	0.275497	0.35615	N	0.003098	D	0.82719	0.5098	M	0.64997	1.995	0.80722	D	1	B;B;P;D	0.67145	0.073;0.086;0.94;0.996	B;B;B;D	0.72982	0.055;0.019;0.272;0.979	T	0.78117	-0.2329	10	0.09843	T	0.71	-3.5841	18.3844	0.90462	0.0:0.0:1.0:0.0	.	534;724;703;697	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	F	725;646;703;725;703;703;646;697;724;697;534	ENSP00000362667:V725F;ENSP00000362664:V703F;ENSP00000386765:V725F;ENSP00000386537:V703F;ENSP00000404195:V646F;ENSP00000387070:V697F;ENSP00000387170:V724F;ENSP00000410297:V697F;ENSP00000411505:V534F	ENSP00000362664:V703F	V	+	1	0	GIGYF2	233385445	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.683000	0.91236	2.328000	0.79073	0.655000	0.94253	GTT	GIGYF2	-	NULL	ENSG00000204120		0.378	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2		0	100	0	G	NM_001103146	Missense_Mutation	233677201	1			no_errors	ENST00000373566	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	233677201	G	T	233677201	5	4	72	1	0	0	0	0	0	0	1	0	6404	1014	35	3	2239	3	GIGYF2	2	233677201	Splice_Site	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	25862801	233677201	9522172	29	19340											
ST3GAL6	10402	genome.wustl.edu	37	chr3	98491723	98491723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgcttccttgtatggtagCgataagtttgatttgcccta	8	17	9	7	1	0	1	0	1	0	0	1	2	1	1	2	1	3	4	2	1	4	9	rs143638537		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr3:98491723C>A	ENST00000483910.1	+	4	523	c.234C>A	c.(232-234)agC>agA	p.S78R	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.S78R|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.S78R|ST3GAL6_ENST00000265261.6_5'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	78					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TGTATGGTAGCGATAAGTTTG	0.393																																																	0													219	199	206					3																	98491723		2203	4300	6503	SO:0001583	missense	0			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"Sialyltransferases"	18080	protein-coding gene	gene with protein product		607156	"sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.234C>A	3.37:g.98491723C>A	ENSP00000417376:p.Ser78Arg		B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.S78R	ENST00000483910.1	37	c.234	CCDS2933.1	3	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733239	0.69189	.	.	ENSG00000064225	ENST00000483910;ENST00000460774;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000468553;ENST00000485391;ENST00000492254;ENST00000477574	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.85	0.434	0.16539	.	0.171233	0.52532	D	0.000070	T	0.38983	0.1061	L	0.49350	1.555	0.58432	D	0.999997	D;D	0.67145	0.996;0.959	D;P	0.66847	0.947;0.811	T	0.18745	-1.0327	10	0.16420	T	0.52	-18.1622	9.0512	0.36378	0.0:0.5835:0.0:0.4165	.	101;78	C9J480;Q9Y274	.;SIA10_HUMAN	R	78;78;78;78;78;78;78;101;43	ENSP00000417376:S78R;ENSP00000418896:S78R;ENSP00000377717:S78R;ENSP00000417201:S101R;ENSP00000419987:S43R	ENSP00000377717:S78R	S	+	3	2	ST3GAL6	99974413	0.934000	0.31675	0.969000	0.41365	0.993000	0.82548	-0.174000	0.09839	0.116000	0.18110	0.650000	0.86243	AGC	ST3GAL6	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000064225		0.393	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	-	0	88	0	C	NM_006100		98491723	1	tier1	-	no_errors	ENST00000394162	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.750	A	A	98491723	C	A	98491723	3	1	72	1	0	0	0	0	1	0	0	0	15266	767	27	2	244	2	ST3GAL6	3	98491723	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09		98491723	99530707	30	19341											
ITGB5	3693	genome.wustl.edu	37	chr3	124482499	124482499	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccattgtaggatttgtTgaacttgttgaaggtgaagt	10	15	13	3	0	0	3	0	3	0	0	0	4	0	4	1	2	2	3	1	2	4	6	rs150512726|rs140998759|rs547715576	byFrequency	TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr3:124482499T>A	ENST00000296181.4	-	15	2667	c.2371A>T	c.(2371-2373)Aac>Tac	p.N791Y	ITGB5_ENST00000461306.1_5'Flank	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	791				Missing (in Ref. 2; AAA52707). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TAGGATTTGTTGAACTTGTTG	0.512																																																	0													190	145	161					3																	124482499		2203	4300	6503	SO:0001583	missense	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.2371A>T	3.37:g.124482499T>A	ENSP00000296181:p.Asn791Tyr		B0LPF8|B2RD70	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.N791Y	ENST00000296181.4	37	c.2371	CCDS3030.1	3	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995203	0.74703	.	.	ENSG00000082781	ENST00000296181	D	0.91237	-2.81	5.68	5.68	0.88126	.	0.335272	0.33895	N	0.004448	D	0.87051	0.6081	N	0.08118	0	0.30790	N	0.741075	D	0.57899	0.981	P	0.54174	0.744	D	0.87377	0.2354	10	0.72032	D	0.01	.	14.5079	0.67764	0.0:0.0:0.0:1.0	.	791	P18084	ITB5_HUMAN	Y	791	ENSP00000296181:N791Y	ENSP00000296181:N791Y	N	-	1	0	ITGB5	125965189	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.153000	0.50685	2.172000	0.68678	0.533000	0.62120	AAC	ITGB5	-	NULL	ENSG00000082781		0.512	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3		0	34	0	T	NM_002213		124482499	-1			no_errors	ENST00000296181	ensembl	human	known	74_37	missense	14.58	40	7	SNP	1.000	A	A	124482499	T	A	124482499	3	1	72	1	0	0	0	0	1	0	0	0	7925	1812	63	5	32	5	ITGB5	3	124482499	Missense_Mutation	SNP	T	TCGA-L5-A88T-01A-11D-A351-09	25990776	124482499	73539931	31	19342											
PLXNA1	5361	genome.wustl.edu	37	chr3	126733428	126733428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtgcgcgtgggcaaGgtgctgtgcagccctgtgga	4	8	19	10	3	0	0	0	0	0	0	0	1	0	1	1	4	4	3	1	4	1	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr3:126733428G>T	ENST00000393409.2	+	12	2712	c.2712G>T	c.(2710-2712)aaG>aaT	p.K904N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K881N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	904	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGTGGGCAAGGTGCTGTGCA	0.701																																																	0													76	79	78					3																	126733428		2202	4300	6502	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2712G>T	3.37:g.126733428G>T	ENSP00000377061:p.Lys904Asn			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K904N	ENST00000393409.2	37	c.2712	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157987	0.38119	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.74947	-0.89;-0.89	3.78	3.78	0.43462	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.378221	0.24583	N	0.037292	T	0.58566	0.2131	N	0.20845	0.615	0.43457	D	0.995651	B	0.27765	0.188	B	0.36766	0.232	T	0.58165	-0.7684	10	0.45353	T	0.12	.	3.4413	0.07465	0.1591:0.0:0.5917:0.2492	.	904	Q9UIW2	PLXA1_HUMAN	N	904;881	ENSP00000377061:K904N;ENSP00000251772:K881N	ENSP00000251772:K881N	K	+	3	2	PLXNA1	128216118	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	1.020000	0.30027	2.125000	0.65367	0.484000	0.47621	AAG	PLXNA1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000114554		0.701	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0	67	0	G	NM_032242		126733428	1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	126733428	G	T	126733428	3	4	72	1	0	0	0	0	1	0	0	0	12158	991	35	3	2758	3	PLXNA1	3	126733428	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	2250929	126733428	71289002	32	19343											
ZBTB38	253461	genome.wustl.edu	37	chr3	141163939	141163939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggagatgagtgaagtgttCgatgacgcaagtgaccagga	13	8	15	5	2	0	5	0	4	0	1	1	8	0	6	1	2	0	2	1	2	2	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr3:141163939C>T	ENST00000514251.1	+	4	2988	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	ZBTB38_ENST00000441582.2_Silent_p.F903F|ZBTB38_ENST00000321464.5_Silent_p.F904F					zinc finger and BTB domain containing 38									p.F903F(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTGAAGTGTTCGATGACGCAA	0.507																																																	1	Substitution - coding silent(1)	lung(1)											57	59	58					3																	141163939		1994	4167	6161	SO:0001819	synonymous_variant	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	26636	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 171"	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2709C>T	3.37:g.141163939C>T				Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F904	ENST00000514251.1	37	c.2712	CCDS43157.1	3																																																																																			ZBTB38	-	NULL	ENSG00000177311		0.507	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2		0	41	0	C			141163939	1			no_errors	ENST00000321464	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.391	T	T	141163939	C	T	141163939	2	4	72	1	0	0	0	0	0	0	0	1	17587	883	31	1		1	ZBTB38	3	141163939	Silent	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	14430511	141163939	56858491	33	19344											
SLC7A14	57709	genome.wustl.edu	37	chr3	170198789	170198789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggttggtatcgaaggaGcaagacacagacagagacca	15	5	12	9	1	1	3	1	0	0	3	2	6	1	4	1	3	1	3	1	3	3	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr3:170198789G>A	ENST00000231706.5	-	7	1597	c.1282C>T	c.(1282-1284)Ctc>Ttc	p.L428F	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	428					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TATCGAAGGAGCAAGACACAG	0.517																																																	0													136	116	123					3																	170198789		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1282C>T	3.37:g.170198789G>A	ENSP00000231706:p.Leu428Phe		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.L428F	ENST00000231706.5	37	c.1282	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725554	0.68959	.	.	ENSG00000013293	ENST00000231706	D	0.89875	-2.58	5.03	5.03	0.67393	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.91267	0.7247	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.92717	0.6188	10	0.87932	D	0	.	18.3552	0.90355	0.0:0.0:1.0:0.0	.	428	Q8TBB6	S7A14_HUMAN	F	428	ENSP00000231706:L428F	ENSP00000231706:L428F	L	-	1	0	SLC7A14	171681483	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.393000	0.79851	2.337000	0.79520	0.655000	0.94253	CTC	SLC7A14	-	pfam_AA-permease/SLC12A_dom	ENSG00000013293		0.517	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	-	0	34	0	G	NM_020949		170198789	-1	tier1	-	no_errors	ENST00000231706	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	A	A	170198789	G	A	170198789	3	1	72	1	0	0	0	0	1	0	0	0	14741	971	34	3	1041	3	SLC7A14	3	170198789	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	29034850	170198789	27823641	34	19345											
ECE2	9718	genome.wustl.edu	37	chr3	184008930	184008930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaggaacagtacaatcAataccaggtcaatggggaga	16	6	12	7	0	2	1	2	0	0	1	2	4	2	3	1	5	3	1	1	5	6	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr3:184008930A>G	ENST00000402825.3	+	17	2291	c.2291A>G	c.(2290-2292)cAa>cGa	p.Q764R	ECE2_ENST00000359140.4_Missense_Mutation_p.Q617R|ECE2_ENST00000357474.5_Missense_Mutation_p.Q692R|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.Q646R	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	764	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGTACAATCAATACCAGGTC	0.597																																																	0													67	71	70					3																	184008930		2203	4300	6503	SO:0001583	missense	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2291A>G	3.37:g.184008930A>G	ENSP00000384223:p.Gln764Arg		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.Q764R	ENST00000402825.3	37	c.2291	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	A	6.662	0.490698	0.12702	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	4.94	3.56	0.40772	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.296529	0.31989	N	0.006755	T	0.64316	0.2587	L	0.28014	0.82	0.36649	D	0.877272	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.09377	0.001;0.004;0.003;0.002;0.001;0.002	T	0.62642	-0.6811	10	0.37606	T	0.19	-18.1577	4.2823	0.10838	0.6517:0.201:0.1473:0.0	.	366;617;646;692;617;764	B4DHU4;B4DKF3;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;ECE2_HUMAN	R	764;617;646;692;638	ENSP00000384223:Q764R;ENSP00000352052:Q617R;ENSP00000385846:Q646R;ENSP00000350066:Q692R;ENSP00000398444:Q638R	ENSP00000350066:Q692R	Q	+	2	0	ECE2	185491624	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.935000	0.48963	1.855000	0.53841	0.459000	0.35465	CAA	ECE2	-	pfam_Peptidase_M13_C	ENSG00000145194		0.597	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0	88	0	A	NM_014693		184008930	1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	9.59	66	7	SNP	1.000	G	G	184008930	A	G	184008930	3	3	72	1	0	0	0	0	1	0	0	0	4904	130	5	4	2921	4	ECE2	3	184008930	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	13810141	184008930	14013500	35	19346											
CCDC50	152137	genome.wustl.edu	37	chr3	191092969	191092969	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagaacatccactggaGaacttggaagagccagaaca	18	4	9	10	0	0	4	0	0	0	4	1	6	1	5	3	2	5	0	3	2	5	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr3:191092969G>T	ENST00000392455.3	+	6	1046				CCDC50_ENST00000392456.3_Missense_Mutation_p.E189D	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50							cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		ATCCACTGGAGAACTTGGAAG	0.478																																																	0													94	85	88					3																	191092969		2203	4300	6503	SO:0001627	intron_variant	0			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"deafness, autosomal dominant 44"	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.449-4979G>T	3.37:g.191092969G>T			Q86VH7	Missense_Mutation	SNP	NULL	p.E189D	ENST00000392455.3	37	c.567	CCDS33913.1	3	.	.	.	.	.	.	.	.	.	.	G	4.541	0.100412	0.08731	.	.	ENSG00000152492	ENST00000392456	T	0.33654	1.4	5.65	3.78	0.43462	.	0.403983	0.24370	N	0.039115	T	0.19167	0.0460	.	.	.	0.23381	N	0.997792	B	0.11235	0.004	B	0.12156	0.007	T	0.16512	-1.0400	9	0.17369	T	0.5	.	7.2551	0.26171	0.0912:0.0:0.7177:0.191	.	189	Q8IVM0-2	.	D	189	ENSP00000376250:E189D	ENSP00000376250:E189D	E	+	3	2	CCDC50	192575663	0.833000	0.29383	0.895000	0.35142	0.090000	0.18270	0.887000	0.28254	1.458000	0.47871	0.650000	0.86243	GAG	CCDC50	-	NULL	ENSG00000152492		0.478	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC50	HGNC	protein_coding	OTTHUMT00000343315.1		0	43	0	G	NM_174908		191092969	1			no_errors	ENST00000392456	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.562	T	T	191092969	G	T	191092969	1	4	72	0	1	0	0	0	0	0	0	0	2827	933	33	3		3	CCDC50	3	191092969	Intron	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	7084039	191092969	6929461	36	19347											
UGT2B15	7366	genome.wustl.edu	37	chr4	69513073	69513073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttggtcatgatgaattcTtgataatttcatgacattct	10	18	8	5	0	4	4	2	4	2	0	4	4	4	4	0	2	0	1	0	2	2	6			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr4:69513073T>C	ENST00000338206.5	-	6	1351	c.1342A>G	c.(1342-1344)Aga>Gga	p.R448G		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	448					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TGATGAATTCTTGATAATTTC	0.388																																																	0													105	112	110					4																	69513073		2203	4296	6499	SO:0001583	missense	0			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1342A>G	4.37:g.69513073T>C	ENSP00000341045:p.Arg448Gly		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.R448G	ENST00000338206.5	37	c.1342	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	t	9.760	1.169828	0.21621	.	.	ENSG00000196620	ENST00000338206	T	0.62232	0.04	2.96	1.77	0.24775	.	0.300125	0.25241	U	0.032099	T	0.64983	0.2648	M	0.93241	3.395	0.22961	N	0.9985	B	0.12013	0.005	B	0.17433	0.018	T	0.63287	-0.6671	10	0.62326	D	0.03	.	3.1666	0.06538	0.0:0.1402:0.2477:0.6121	.	448	P54855	UDB15_HUMAN	G	448	ENSP00000341045:R448G	ENSP00000341045:R448G	R	-	1	2	UGT2B15	69195668	0.000000	0.05858	0.833000	0.33012	0.827000	0.46813	-0.262000	0.08682	0.261000	0.21753	0.451000	0.29950	AGA	UGT2B15	-	pfam_UDP_glucos_trans	ENSG00000196620		0.388	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	-	0	162	0	T	NM_001076		69513073	-1	tier1	-	no_errors	ENST00000338206	ensembl	human	known	74_37	missense	5.78	162	10	SNP	0.994	C	C	69513073	T	C	69513073	3	2	72	1	0	0	0	0	1	0	0	0	17007	1617	56	4	1871	4	UGT2B15	4	69513073	Missense_Mutation	SNP	T	TCGA-L5-A88T-01A-11D-A351-09		69513073	121641203	37	19348											
NUP54	53371	genome.wustl.edu	37	chr4	77053807	77053807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaatgggcatatagcgttGtagctggaactcttcttgaa	12	12	10	7	1	2	1	0	1	2	0	2	2	2	2	0	2	3	4	0	2	7	6			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr4:77053807G>T	ENST00000264883.3	-	6	916	c.776C>A	c.(775-777)aCa>aAa	p.T259K	NUP54_ENST00000458189.2_Missense_Mutation_p.T79K|NUP54_ENST00000515460.1_5'Flank|NUP54_ENST00000342467.6_Missense_Mutation_p.T79K|NUP54_ENST00000514987.1_Missense_Mutation_p.T211K	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	259	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						ATATAGCGTTGTAGCTGGAAC	0.378																																																	0													170	158	162					4																	77053807		2203	4300	6503	SO:0001583	missense	0			AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"nucleoporin 54kD"			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.776C>A	4.37:g.77053807G>T	ENSP00000264883:p.Thr259Lys		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	NULL	p.T259K	ENST00000264883.3	37	c.776	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639451	0.67244	.	.	ENSG00000138750	ENST00000264883;ENST00000342467;ENST00000514987;ENST00000458189	.	.	.	5.46	5.46	0.80206	.	0.146905	0.64402	D	0.000009	T	0.55016	0.1894	L	0.54323	1.7	0.58432	D	0.999993	P;P;P	0.44429	0.835;0.57;0.835	B;B;B	0.41813	0.272;0.367;0.346	T	0.55042	-0.8202	9	0.34782	T	0.22	-2.2859	14.8673	0.70427	0.0:0.1431:0.8569:0.0	.	211;79;259	B4DT35;Q7Z3B4-2;Q7Z3B4	.;.;NUP54_HUMAN	K	259;79;211;79	.	ENSP00000264883:T259K	T	-	2	0	NUP54	77272831	1.000000	0.71417	0.995000	0.50966	0.817000	0.46193	5.059000	0.64306	2.581000	0.87130	0.650000	0.86243	ACA	NUP54	-	NULL	ENSG00000138750		0.378	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	HGNC	protein_coding	OTTHUMT00000252402.3		0	74	0	G			77053807	-1			no_errors	ENST00000264883	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	77053807	G	T	77053807	3	4	72	1	0	0	0	0	1	0	0	0	10806	1377	48	3	775	3	NUP54	4	77053807	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	7540734	77053807	114100469	38	19349											
SLC39A8	64116	genome.wustl.edu	37	chr4	103226180	103226180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaataacatctttagcattCtttcaaaaaagaaaagtagg	18	13	5	5	0	3	1	1	0	2	1	3	1	3	1	0	1	2	2	0	1	9	7			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr4:103226180C>T	ENST00000394833.2	-	4	1117	c.641G>A	c.(640-642)aGa>aAa	p.R214K	SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000424970.2_Missense_Mutation_p.R214K|SLC39A8_ENST00000356736.4_Missense_Mutation_p.R214K	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	214					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		CTTTAGCATTCTTTCAAAAAA	0.333																																																	0													59	61	61					4																	103226180		2202	4300	6502	SO:0001583	missense	0				CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"Solute carriers"	20862	protein-coding gene	gene with protein product		608732	"solute carrier family 39 (metal ion transporter), member 8"			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.641G>A	4.37:g.103226180C>T	ENSP00000378310:p.Arg214Lys		B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	pfam_ZIP	p.R214K	ENST00000394833.2	37	c.641	CCDS3656.1	4	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384107	0.25031	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.43688	0.94;0.94;0.94	5.26	5.26	0.73747	.	0.103796	0.64402	D	0.000007	T	0.25901	0.0631	N	0.05554	-0.025	0.46725	D	0.999179	B;B;B	0.27140	0.166;0.169;0.102	B;B;B	0.34180	0.097;0.177;0.105	T	0.08953	-1.0697	10	0.02654	T	1	-16.6538	17.8607	0.88780	0.0:1.0:0.0:0.0	.	214;214;147	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	K	214	ENSP00000394548:R214K;ENSP00000349174:R214K;ENSP00000378310:R214K	ENSP00000349174:R214K	R	-	2	0	SLC39A8	103445203	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.205000	0.58466	2.469000	0.83416	0.655000	0.94253	AGA	SLC39A8	-	pfam_ZIP	ENSG00000138821		0.333	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A8	HGNC	protein_coding	OTTHUMT00000253798.1	-	0	134	0	C	NM_022154		103226180	-1	tier1	-	no_errors	ENST00000356736	ensembl	human	known	74_37	missense	8.33	98	9	SNP	0.996	T	T	103226180	C	T	103226180	3	4	72	1	0	0	0	0	1	0	0	0	14669	913	32	3	838	3	SLC39A8	4	103226180	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	26172373	103226180	87928096	39	19350											
FAT1	2195	genome.wustl.edu	37	chr4	187538272	187538272	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaggtaattgtccctttTttccctgtctagaggtttct	8	17	8	8	0	2	2	0	0	2	2	4	2	4	2	2	2	0	2	2	2	4	7			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr4:187538272T>A	ENST00000441802.2	-	11	9171	c.8962A>T	c.(8962-8964)Aaa>Taa	p.K2988*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2988	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGTCCCTTTTTTCCCTGTCT	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													213	189	197					4																	187538272		1878	4107	5985	SO:0001587	stop_gained	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8962A>T	4.37:g.187538272T>A	ENSP00000406229:p.Lys2988*			Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.K2988*	ENST00000441802.2	37	c.8962	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	T	50	16.581229	0.99867	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.59	-3.32	0.04973	.	0.350363	0.32041	N	0.006670	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	7.8076	0.29211	0.0:0.2383:0.5709:0.1908	.	.	.	.	X	2988;2990	.	ENSP00000260147:K2990X	K	-	1	0	FAT1	187775266	0.992000	0.36948	0.094000	0.20943	0.738000	0.42128	0.906000	0.28517	-0.597000	0.05813	-0.429000	0.05907	AAA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	70	0	T	NM_005245		187538272	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	nonsense	15.62	54	10	SNP	0.982	A	A	187538272	T	A	187538272	4	1	72	1	0	0	0	0	0	1	0	0	5711	1850	64	5	4872	5	FAT1	4	187538272	Nonsense_Mutation	SNP	T	TCGA-L5-A88T-01A-11D-A351-09	84312092	187538272	3616004	40	19351											
HCN1	348980	genome.wustl.edu	37	chr5	45645328	45645328	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaattaaccttgaaagtcGtaataaacgcaagagactga	17	10	7	7	2	1	3	0	2	1	1	2	4	1	3	1	0	2	2	1	0	7	5	rs541911994		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr5:45645328G>A	ENST00000303230.4	-	2	865	c.808C>T	c.(808-810)Cga>Tga	p.R270*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	270					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTGAAAGTCGTAATAAACGC	0.328													G|||	1	0.000199681	8e-04	0	5008	,	,		17394	0		0	False		,,,				2504	0																0													44	44	44					5																	45645328		2203	4300	6503	SO:0001587	stop_gained	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.808C>T	5.37:g.45645328G>A	ENSP00000307342:p.Arg270*			Nonsense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.R270*	ENST00000303230.4	37	c.808	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.383656	0.97524	.	.	ENSG00000164588	ENST00000303230	.	.	.	5.5	5.5	0.81552	.	0.000000	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.403	0.94639	0.0:0.0:1.0:0.0	.	.	.	.	X	270	.	ENSP00000307342:R270X	R	-	1	2	HCN1	45681085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.225000	0.51246	2.589000	0.87451	0.650000	0.86243	CGA	HCN1	-	pfam_Ion_trans_dom	ENSG00000164588		0.328	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	98	0	G	NM_021072		45645328	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	nonsense	16.67	90	18	SNP	1.000	A	A	45645328	G	A	45645328	4	1	72	1	0	0	0	0	0	1	0	0	7023	1153	40	1	1892	1	HCN1	5	45645328	Nonsense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		45645328	135269932	41	19352											
PDE4D	5144	genome.wustl.edu	37	chr5	58489358	58489358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaatcaagtcatctcCgtgtctgaaaaataaaccaa	17	9	5	10	1	5	1	3	1	2	0	6	1	5	1	2	0	1	0	2	0	7	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr5:58489358C>T	ENST00000340635.6	-	3	827	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PDE4D_ENST00000507116.1_Missense_Mutation_p.G154R|PDE4D_ENST00000503258.1_Missense_Mutation_p.G88R|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157R|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157R|PDE4D_ENST00000502575.1_Missense_Mutation_p.G154R|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96R|PDE4D_ENST00000360047.5_Missense_Mutation_p.G82R|PDE4D_ENST00000503947.1_5'UTR	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	218					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGTCATCTCCGTGTCTGAAA	0.398																																																	0													75	71	72					5																	58489358		1880	4130	6010	SO:0001583	missense	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"Phosphodiesterases"	8783	protein-coding gene	gene with protein product	"phosphodiesterase E3 dunce homolog (Drosophila)"	600129	"phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.652G>A	5.37:g.58489358C>T	ENSP00000345502:p.Gly218Arg		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.G218R	ENST00000340635.6	37	c.652	CCDS47213.1	5	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826670	0.71143	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000502575	T;T;T;T;T;T;T;D	0.82344	-0.32;-0.33;-0.34;-0.32;-0.34;-0.34;-0.34;-1.6	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89413	0.6708	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D;D	0.87578	0.977;0.996;0.998;0.997;0.998;0.98;0.98;0.998	D	0.89095	0.3485	10	0.72032	D	0.01	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	98;154;157;218;154;81;96;88	Q9HCX6;Q08499-12;Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10	.;.;.;PDE4D_HUMAN;.;.;.;.	R	218;87;82;154;88;96;157;157;154	ENSP00000345502:G218R;ENSP00000353152:G82R;ENSP00000424852:G154R;ENSP00000425605:G88R;ENSP00000384806:G96R;ENSP00000423094:G157R;ENSP00000442734:G157R;ENSP00000425917:G154R	ENSP00000308485:G154R	G	-	1	0	PDE4D	58525115	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	5.622000	0.67750	2.885000	0.99019	0.655000	0.94253	GGA	PDE4D	-	NULL	ENSG00000113448		0.398	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0	152	0	C			58489358	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	missense	8.81	145	14	SNP	1.000	T	T	58489358	C	T	58489358	3	4	72	1	0	0	0	0	1	0	0	0	11681	661	23	1	1829	1	PDE4D	5	58489358	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	12844030	58489358	122425902	42	19353											
IPO11	51194	genome.wustl.edu	37	chr5	61778953	61778954	+	Frame_Shift_Ins	INS	-	-	T																															gacttcttggatcagcatccINStttttcatttactcctctaa																										TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr5:61778953_61778954insT	ENST00000325324.6	+	10	1023_1024	c.854_855insT	c.(853-858)ccttttfs	p.PF285fs	IPO11_ENST00000409296.3_Frame_Shift_Ins_p.PF325fs|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	285					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GATCAGCATCCTTTTTCATTTA	0.307																																																	0																																										SO:0001589	frameshift_variant	0			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.859dupT	5.37:g.61778958_61778958dupT	ENSP00000316651:p.Pro285fs		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Frame_Shift_Ins	INS	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S327fs	ENST00000325324.6	37	c.974_975	CCDS34167.1	5																																																																																			IPO11	-	superfamily_ARM-type_fold	ENSG00000086200		0.307	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1		0	19	0	-	NM_016338		61778954	1	tier1		no_errors	ENST00000409296	ensembl	human	known	74_37	frame_shift_ins	13.79	25	4	INS	1.000:0.955	T	T	61778954	-	T	61778953	7	5	72	1	0	1	1	0	0	0	0	0	7820	681	24	0	1012	0	IPO11	5	61778953	Frame_Shift_Ins	INS	-	TCGA-L5-A88T-01A-11D-A351-09	3289595	61778953	119136307	43	19354											
IRF1	3659	genome.wustl.edu	37	chr5	131821980	131821980	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggtgacacctggaagttGtacagatcactggtgctgtc	9	11	13	8	0	1	2	1	1	0	1	2	3	1	3	1	3	2	3	1	3	2	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr5:131821980G>T	ENST00000245414.4	-	7	888	c.630C>A	c.(628-630)taC>taA	p.Y210*	IRF1_ENST00000463784.1_5'Flank|IRF1_ENST00000405885.2_Nonsense_Mutation_p.Y210*	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	210					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCTGGAAGTTGTACAGATCAC	0.602																																																	0													93	99	97					5																	131821980		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"interferon regulatory factor-1"	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.630C>A	5.37:g.131821980G>T	ENSP00000245414:p.Tyr210*		Q96GG7	Nonsense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.Y210*	ENST00000245414.4	37	c.630	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.322668	0.95708	.	.	ENSG00000125347	ENST00000245414;ENST00000405885	.	.	.	5.35	2.56	0.30785	.	0.159722	0.44902	D	0.000419	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0321	11.1821	0.48633	0.2025:0.0:0.7975:0.0	.	.	.	.	X	210	.	ENSP00000245414:Y210X	Y	-	3	2	IRF1	131849879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.044000	0.30329	0.466000	0.27193	0.655000	0.94253	TAC	IRF1	-	pirsf_Interferon_reg_fac-1/2	ENSG00000125347		0.602	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1		0	39	0	G	NM_002198		131821980	-1			no_errors	ENST00000245414	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	T	T	131821980	G	T	131821980	4	4	72	1	0	0	0	0	0	1	0	0	7854	1372	48	3	363	3	IRF1	5	131821980	Nonsense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	70043027	131821980	49093280	44	19355											
GDF9	2661	genome.wustl.edu	37	chr5	132197854	132197854	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtcattcaaatataaGatcagtgagggggacaccag	13	10	11	7	0	3	2	3	1	0	1	3	3	3	3	1	2	0	0	1	2	3	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr5:132197854G>T	ENST00000378673.2	-	3	1658	c.792C>A	c.(790-792)atC>atA	p.I264I	GDF9_ENST00000296875.2_Silent_p.I264I|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	264					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAATATAAGATCAGTGAGG	0.443																																																	0													76	75	75					5																	132197854		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.792C>A	5.37:g.132197854G>T			Q4VAW5	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.I264	ENST00000378673.2	37	c.792	CCDS4162.1	5																																																																																			GDF9	-	NULL	ENSG00000164404		0.443	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	-	0	80	0	G	NM_005260		132197854	-1	tier1	-	no_errors	ENST00000296875	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.120	T	T	132197854	G	T	132197854	2	4	72	1	0	0	0	0	0	0	0	1	6345	932	33	3		3	GDF9	5	132197854	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	375874	132197854	48717406	45	19356											
CPEB4	80315	genome.wustl.edu	37	chr5	173317497	173317497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagcaaaggaggtctcctgCcagtccccatcccccaccct	8	6	8	19	0	1	0	0	0	1	0	4	1	3	1	7	2	2	2	7	2	1	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr5:173317497C>T	ENST00000265085.5	+	1	2215	c.761C>T	c.(760-762)gCc>gTc	p.A254V	CPEB4_ENST00000519835.1_Missense_Mutation_p.A254V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A254V|CPEB4_ENST00000522336.1_5'Flank|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Missense_Mutation_p.A254V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	254					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGTCTCCTGCCAGTCCCCAT	0.542																																																	0													125	139	134					5																	173317497		2203	4300	6503	SO:0001583	missense	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.761C>T	5.37:g.173317497C>T	ENSP00000265085:p.Ala254Val		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A254V	ENST00000265085.5	37	c.761	CCDS4390.1	5	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783253	0.49891	.	.	ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	L	0.33485	1.01	0.80722	D	1	B;P;P;P	0.41475	0.266;0.598;0.751;0.751	B;B;B;B	0.42692	0.194;0.355;0.395;0.395	T	0.16453	-1.0402	10	0.20519	T	0.43	-9.5248	19.0156	0.92892	0.0:1.0:0.0:0.0	.	254;254;254;254	B7ZLQ8;Q17RY0-2;E5RJM0;Q17RY0	.;.;.;CPEB4_HUMAN	V	254	ENSP00000265085:A254V;ENSP00000429092:A254V;ENSP00000334533:A254V;ENSP00000429048:A254V	ENSP00000265085:A254V	A	+	2	0	CPEB4	173250103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.071000	0.71229	2.496000	0.84212	0.557000	0.71058	GCC	CPEB4	-	NULL	ENSG00000113742		0.542	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2		0	45	0	C	NM_030627		173317497	1			no_errors	ENST00000265085	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	173317497	C	T	173317497	3	4	72	1	0	0	0	0	1	0	0	0	3810	739	26	3	763	3	CPEB4	5	173317497	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	41119643	173317497	7597763	46	19357											
ETV7	51513	genome.wustl.edu	37	chr6	36336842	36336842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtaatcccacagcaggCggcagtctgcaatttagcac	12	7	9	13	2	1	0	0	0	1	0	2	0	2	0	1	2	3	5	1	2	3	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:36336842C>T	ENST00000340181.4	-	6	912	c.671G>A	c.(670-672)cGc>cAc	p.R224H	ETV7_ENST00000538992.1_Missense_Mutation_p.R73H|ETV7_ENST00000373738.1_Missense_Mutation_p.R169H|ETV7_ENST00000339796.5_Missense_Mutation_p.R224H|ETV7_ENST00000373737.4_Missense_Mutation_p.R147H	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	224					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CCACAGCAGGCGGCAGTCTGC	0.542																																																	0													96	84	88					6																	36336842		2203	4300	6503	SO:0001583	missense	0			AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"TEL2 oncogene"	605255	"ets variant gene 7 (TEL2 oncogene)"			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.671G>A	6.37:g.36336842C>T	ENSP00000341843:p.Arg224His		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R224H	ENST00000340181.4	37	c.671	CCDS4819.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042568	0.75732	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52	4.0	2.18	0.27775	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (3);	0.069380	0.56097	D	0.000035	T	0.17066	0.0410	M	0.62723	1.935	0.38334	D	0.943886	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.992;0.997;0.995;0.95;0.998	T	0.01666	-1.1300	10	0.44086	T	0.13	.	7.8142	0.29249	0.1611:0.7512:0.0:0.0877	.	165;147;169;224;169;224	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	H	224;224;147;169;73	ENSP00000342260:R224H;ENSP00000341843:R224H;ENSP00000362842:R147H;ENSP00000362843:R169H;ENSP00000440592:R73H	ENSP00000342260:R224H	R	-	2	0	ETV7	36444820	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	3.199000	0.51043	0.186000	0.20125	0.655000	0.94253	CGC	ETV7	-	smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000010030		0.542	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ETV7	HGNC	protein_coding	OTTHUMT00000040341.1		0	62	0	C	NM_016135		36336842	-1			no_errors	ENST00000340181	ensembl	human	known	74_37	missense	5.48	68	4	SNP	1.000	T	T	36336842	C	T	36336842	3	4	72	1	0	0	0	0	1	0	0	0	5300	768	27	1	366	1	ETV7	6	36336842	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09		36336842	134778225	47	19358											
KIF6	221458	genome.wustl.edu	37	chr6	39513390	39513390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacagtgatgaactttaCgcatatccgcgccaacctct	13	9	7	12	3	1	2	0	2	1	0	2	3	2	2	3	0	4	1	3	0	6	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:39513390C>T	ENST00000287152.7	-	11	1350	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H|KIF6_ENST00000373215.3_Missense_Mutation_p.R419H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGAACTTTACGCATATCCGC	0.358																																																	0													110	107	108					6																	39513390		2203	4300	6503	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1256G>A	6.37:g.39513390C>T	ENSP00000287152:p.Arg419His		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R419H	ENST00000287152.7	37	c.1256	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.326967|4.326967	0.81690|0.81690	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.73047|.	-0.69;-0.68;-0.53;-0.69;-0.71|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.67439|0.67439	0.2893|0.2893	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.962;0.975;0.994|.	T|T	0.67273|0.67273	-0.5712|-0.5712	9|5	0.56958|.	D|.	0.05|.	.|.	15.0307|15.0307	0.71705|0.71705	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	419;419;419;419|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	H|I	419;419;258;419;419|311	ENSP00000287152:R419H;ENSP00000362312:R419H;ENSP00000362309:R258H;ENSP00000362311:R419H;ENSP00000441435:R419H|.	ENSP00000287152:R419H|.	R|V	-|-	2|1	0|0	KIF6|KIF6	39621368|39621368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	4.095000|4.095000	0.57728|0.57728	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	CGT|GTA	KIF6	-	NULL	ENSG00000164627		0.358	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0	86	0	C	NM_145027		39513390	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	5.77	98	6	SNP	1.000	T	T	39513390	C	T	39513390	3	4	72	1	0	0	0	0	1	0	0	0	8335	536	19	1	1240	1	KIF6	6	39513390	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	3176548	39513390	131601677	48	19359											
CUL7	9820	genome.wustl.edu	37	chr6	43013045	43013045	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgaaccatgtagaagagGcgtgtgtgacgacagagctg	11	6	15	9	3	0	4	0	1	0	3	0	6	0	4	2	1	2	2	2	1	3	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:43013045G>T	ENST00000265348.3	-	15	3043	c.2958C>A	c.(2956-2958)cgC>cgA	p.R986R	CUL7_ENST00000535468.1_Silent_p.R1070R|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	986	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTAGAAGAGGCGTGTGTGAC	0.602																																																	0													141	124	129					6																	43013045		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2958C>A	6.37:g.43013045G>T			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R1070	ENST00000265348.3	37	c.3210	CCDS4881.1	6																																																																																			CUL7	-	NULL	ENSG00000044090		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	-	0	36	0	G	NM_014780		43013045	-1	tier1	-	no_errors	ENST00000535468	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.999	T	T	43013045	G	T	43013045	2	4	72	1	0	0	0	0	0	0	0	1	4069	1190	42	3		3	CUL7	6	43013045	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	3499655	43013045	128102022	49	19360											
RIMS1	22999	genome.wustl.edu	37	chr6	73000537	73000537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccttgtccctggagggtCggcgccaccttctccgcttc	3	10	10	18	3	1	0	0	0	1	0	5	1	2	1	6	3	0	1	6	3	0	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:73000537C>T	ENST00000521978.1	+	25	3710	c.3710C>T	c.(3709-3711)tCg>tTg	p.S1237L	RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000425662.2_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1237					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCTGGAGGGTCGGCGCCACCT	0.552																																																	0													77	81	79					6																	73000537		2123	4224	6347	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3710C>T	6.37:g.73000537C>T	ENSP00000428417:p.Ser1237Leu		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S1237L	ENST00000521978.1	37	c.3710	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980133	0.74474	.	.	ENSG00000079841	ENST00000521978	T	0.16073	2.37	5.4	5.4	0.78164	.	0.000000	0.42821	D	0.000655	T	0.03390	0.0098	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.39563	-0.9608	10	0.20519	T	0.43	-8.6371	11.4397	0.50090	0.0:0.9158:0.0:0.0842	.	1237	Q86UR5	RIMS1_HUMAN	L	1237	ENSP00000428417:S1237L	ENSP00000428417:S1237L	S	+	2	0	RIMS1	73057258	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.698000	0.54771	2.530000	0.85305	0.563000	0.77884	TCG	RIMS1	-	NULL	ENSG00000079841		0.552	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	75	0	C			73000537	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	10.23	79	9	SNP	1.000	T	T	73000537	C	T	73000537	3	4	72	1	0	0	0	0	1	0	0	0	13412	893	31	1	3971	1	RIMS1	6	73000537	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	29987492	73000537	98114530	50	19361											
MDN1	23195	genome.wustl.edu	37	chr6	90365589	90365589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggcccctgctcggcatgGctgtccgtatccacagtcct	4	10	11	16	2	0	0	0	0	0	0	4	0	3	0	5	3	1	5	5	3	1	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:90365589G>A	ENST00000369393.3	-	92	15499	c.15384C>T	c.(15382-15384)agC>agT	p.S5128S	MDN1_ENST00000428876.1_Silent_p.S5128S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5128					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTCGGCATGGCTGTCCGTAT	0.552																																																	0													106	76	86					6																	90365589		2203	4300	6503	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15384C>T	6.37:g.90365589G>A			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.S5128	ENST00000369393.3	37	c.15384	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.552	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	37	0	G			90365589	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.002	A	A	90365589	G	A	90365589	2	1	72	1	0	0	0	0	0	0	0	1	9453	1194	42	3		3	MDN1	6	90365589	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	17365052	90365589	80749478	51	19362											
GPR63	81491	genome.wustl.edu	37	chr6	97247216	97247216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagggcatgttcagcactGcaagcaacatgtctgcaaaa	15	7	9	10	0	2	0	1	0	1	0	2	0	2	0	0	1	5	6	0	1	5	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:97247216G>C	ENST00000229955.3	-	2	737	c.392C>G	c.(391-393)gCa>gGa	p.A131G	GPR63_ENST00000417980.1_Missense_Mutation_p.A131G	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTTCAGCACTGCAAGCAACAT	0.438																																																	0													80	79	80					6																	97247216		2203	4300	6503	SO:0001583	missense	0			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"GPCR / Class A : Orphans"	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.392C>G	6.37:g.97247216G>C	ENSP00000229955:p.Ala131Gly		Q9UJH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A131G	ENST00000229955.3	37	c.392	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	G	9.564	1.119199	0.20877	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.37235	1.21;1.21;1.21	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.137147	0.48767	D	0.000175	T	0.10337	0.0253	N	0.16016	0.355	0.80722	D	1	B	0.22983	0.078	B	0.24974	0.057	T	0.10870	-1.0611	10	0.02654	T	1	-6.7176	18.8837	0.92367	0.0:0.0:1.0:0.0	.	131	Q9BZJ6	GPR63_HUMAN	G	155;131;131;131	ENSP00000393170:A131G;ENSP00000229955:A131G;ENSP00000358273:A131G	ENSP00000229955:A131G	A	-	2	0	GPR63	97353937	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.420000	0.97426	2.553000	0.86117	0.555000	0.69702	GCA	GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000112218		0.438	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2		0	89	0	G			97247216	-1			no_errors	ENST00000229955	ensembl	human	known	74_37	missense	5.77	48	3	SNP	1.000	C	C	97247216	G	C	97247216	3	2	72	1	0	0	0	0	1	0	0	0	6730	1319	46	5	871	5	GPR63	6	97247216	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	6881627	97247216	73867851	52	19363											
HACE1	57531	genome.wustl.edu	37	chr6	105232975	105232975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggcttcctgtctccctgCaagagcatctggtttagatt	7	14	9	11	0	2	2	0	0	2	2	4	2	3	2	2	2	2	4	2	2	2	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:105232975C>A	ENST00000262903.4	-	12	1570	c.1294G>T	c.(1294-1296)Gca>Tca	p.A432S	HACE1_ENST00000369125.2_Missense_Mutation_p.A432S|HACE1_ENST00000517995.1_5'Flank	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	432					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTCTCCCTGCAAGAGCATCT	0.463																																																	0													99	92	94					6																	105232975		2203	4300	6503	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1294G>T	6.37:g.105232975C>A	ENSP00000262903:p.Ala432Ser		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.A432S	ENST00000262903.4	37	c.1294	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163910	0.38217	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.36699	1.24;1.25	4.8	2.9	0.33743	.	0.667411	0.15926	N	0.237890	T	0.08758	0.0217	N	0.22421	0.69	0.32683	N	0.515225	B;B;B	0.15473	0.0;0.002;0.013	B;B;B	0.21917	0.0;0.004;0.037	T	0.23583	-1.0184	10	0.06891	T	0.86	.	13.3942	0.60840	0.2871:0.7129:0.0:0.0	.	432;432;85	E9PGP0;Q8IYU2;Q8IYU2-3	.;HACE1_HUMAN;.	S	432	ENSP00000262903:A432S;ENSP00000358121:A432S	ENSP00000262903:A432S	A	-	1	0	HACE1	105339668	0.520000	0.26250	0.519000	0.27824	0.922000	0.55478	0.605000	0.24179	0.474000	0.27392	0.460000	0.39030	GCA	HACE1	-	NULL	ENSG00000085382		0.463	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	-	0	82	0	C	XM_045095		105232975	-1	tier1	-	no_errors	ENST00000262903	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.863	A	A	105232975	C	A	105232975	3	1	72	1	0	0	0	0	1	0	0	0	6967	710	25	3	1487	3	HACE1	6	105232975	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	7985759	105232975	65882092	53	19364											
VNN1	8876	genome.wustl.edu	37	chr6	133032958	133032958	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaatagcatcttctggAgtcacaataatatgcgcacc	14	10	6	11	1	3	0	1	0	2	0	3	1	3	1	2	1	2	2	2	1	6	5			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:133032958A>C	ENST00000367928.4	-	2	244	c.231T>G	c.(229-231)acT>acG	p.T77T		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	77	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CATCTTCTGGAGTCACAATAA	0.463																																																	0													111	112	111					6																	133032958		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.231T>G	6.37:g.133032958A>C			A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.T77	ENST00000367928.4	37	c.231	CCDS5159.1	6																																																																																			VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.463	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	-	0	109	0	A			133032958	-1	tier1	-	no_errors	ENST00000367928	ensembl	human	known	74_37	silent	5.88	96	6	SNP	1.000	C	C	133032958	A	C	133032958	2	2	72	1	0	0	0	0	0	0	0	1	17231	291	11	4		4	VNN1	6	133032958	Silent	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	27799983	133032958	38082109	54	19365											
GPR126	57211	genome.wustl.edu	37	chr6	142718824	142718824	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaaaatcattcagcagaAgctcctaaaaaataatgagt	20	8	7	6	0	2	2	2	1	0	1	3	3	3	3	1	1	2	2	1	1	7	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:142718824A>C	ENST00000230173.6	+	10	1975	c.1499A>C	c.(1498-1500)aAg>aCg	p.K500T	GPR126_ENST00000367609.3_Missense_Mutation_p.K500T|GPR126_ENST00000367608.2_Missense_Mutation_p.K472T|GPR126_ENST00000296932.8_Missense_Mutation_p.K472T	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	500					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATTCAGCAGAAGCTCCTAAAA	0.373																																																	0													73	72	72					6																	142718824		1819	4076	5895	SO:0001583	missense	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1499A>C	6.37:g.142718824A>C	ENSP00000230173:p.Lys500Thr		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.K500T	ENST00000230173.6	37	c.1499	CCDS47490.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.27|16.27	3.076232|3.076232	0.55646|0.55646	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609|ENST00000508295	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.54|5.54	4.37|4.37	0.52481|0.52481	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.43411|0.43411	0.1246|0.1246	L|L	0.58101|0.58101	1.795|1.795	0.33731|0.33731	D|D	0.618258|0.618258	B;B;B;B|.	0.29590|.	0.25;0.25;0.25;0.162|.	B;B;B;B|.	0.28709|.	0.093;0.093;0.093;0.043|.	T|T	0.42616|0.42616	-0.9441|-0.9441	10|5	0.72032|.	D|.	0.01|.	.|.	11.4882|11.4882	0.50367|0.50367	0.9294:0.0:0.0706:0.0|0.9294:0.0:0.0706:0.0	.|.	472;500;472;500|.	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4|.	.;.;.;GP126_HUMAN|.	T|R	500;472;472;500|75	ENSP00000230173:K500T;ENSP00000356580:K472T;ENSP00000296932:K472T;ENSP00000356581:K500T|.	ENSP00000230173:K500T|.	K|S	+|+	2|1	0|0	GPR126|GPR126	142760517|142760517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.058000|6.058000	0.71126|0.71126	1.036000|1.036000	0.39998|0.39998	0.528000|0.528000	0.53228|0.53228	AAG|AGC	GPR126	-	NULL	ENSG00000112414		0.373	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	-	0	85	0	A			142718824	1	tier1	-	no_errors	ENST00000367609	ensembl	human	known	74_37	missense	10.00	63	7	SNP	1.000	C	C	142718824	A	C	142718824	3	2	72	1	0	0	0	0	1	0	0	0	6666	72	3	4	1537	4	GPR126	6	142718824	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	9685866	142718824	28396243	55	19366											
TIAM2	26230	genome.wustl.edu	37	chr6	155465783	155465783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctatgggaagaattccatGgatcagagcagtgcccctcg	11	8	11	11	1	1	2	1	0	0	2	3	4	2	4	4	2	2	1	4	2	3	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr6:155465783G>T	ENST00000461783.3	+	8	2947	c.1674G>T	c.(1672-1674)atG>atT	p.M558I	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.M558I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M558I|TIAM2_ENST00000318981.5_Missense_Mutation_p.M558I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M558I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	558	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAATTCCATGGATCAGAGCA	0.488																																																	0													115	111	113					6																	155465783		2203	4300	6503	SO:0001583	missense	0				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1674G>T	6.37:g.155465783G>T	ENSP00000437188:p.Met558Ile		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.M558I	ENST00000461783.3	37	c.1674	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.088832	0.00367	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.81	0.736	0.18307	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.836473	0.11403	N	0.567604	T	0.25344	0.0616	N	0.03608	-0.345	0.80722	D	1	B;B	0.22003	0.063;0.032	B;B	0.24974	0.034;0.057	T	0.21280	-1.0250	10	0.09084	T	0.74	.	2.4207	0.04447	0.1317:0.2347:0.3919:0.2418	.	558;558	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	I	558;804;558;558;558;558;558	ENSP00000437188:M558I;ENSP00000434901:M558I;ENSP00000407746:M558I;ENSP00000327315:M558I;ENSP00000353528:M558I;ENSP00000433348:M558I	ENSP00000327315:M558I	M	+	3	0	TIAM2	155507475	0.673000	0.27539	0.004000	0.12327	0.066000	0.16364	0.963000	0.29293	-0.153000	0.11137	-0.175000	0.13238	ATG	TIAM2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000146426		0.488	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2		0	36	0	G	NM_012454		155465783	1			no_errors	ENST00000456144	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.018	T	T	155465783	G	T	155465783	3	4	72	1	0	0	0	0	1	0	0	0	15938	1348	47	3	1684	3	TIAM2	6	155465783	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	12746959	155465783	15649284	56	19367											
TMEM184A	202915	genome.wustl.edu	37	chr7	1588289	1588292	+	Frame_Shift_Del	DEL	TAGA	TAGA	-																															cgaggctgacggaggcgttgTagatgagggtcacatagagg																										TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	TAGA	TAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr7:1588289_1588292delTAGA	ENST00000297477.5	-	7	993_996	c.677_680delTCTA	c.(676-681)atctacfs	p.IY226fs	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	226					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGAGGCGTTGTAGATGAGGGTCAC	0.642																																																	0																																										SO:0001589	frameshift_variant	0				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.677_680delTCTA	7.37:g.1588289_1588292delTAGA	ENSP00000297477:p.Ile226fs		Q8TBQ6	Frame_Shift_Del	DEL	pfam_Ost-alpha	p.I226fs	ENST00000297477.5	37	c.680_677	CCDS43537.1	7																																																																																			TMEM184A	-	pfam_Ost-alpha	ENSG00000164855		0.642	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4		0	130	0	TAGA	NM_152689		1588292	-1			no_errors	ENST00000297477	ensembl	human	known	74_37	frame_shift_del	6.67	112	8	DEL	1.000:1.000:1.000:1.000	0	-	1588292	TAGA	-	1588289	7	5	72	1	0	1	0	1	0	0	0	0	16151	1638	57	0	573	0	TMEM184A	7	1588289	Frame_Shift_Del	DEL	TAGA	TCGA-L5-A88T-01A-11D-A351-09		1588289	157550374	57	19368											
HDAC9	9734	genome.wustl.edu	37	chr7	19015467	19015467	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaggatggtggctgtgccaAggggctgtgctctggctggt	5	11	18	7	0	1	0	0	0	1	0	1	1	1	1	1	7	2	4	1	7	2	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr7:19015467A>C	ENST00000441542.2	+	24	3061	c.3061A>C	c.(3061-3063)Agg>Cgg	p.R1021R	HDAC9_ENST00000401921.1_Silent_p.R977R|HDAC9_ENST00000406451.4_Silent_p.R1018R	NM_178425.2	NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCTGTGCCAAGGGGCTGTGC	0.478																																																	0													117	129	125					7																	19015467		2105	4235	6340	SO:0001819	synonymous_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000441542.2:c.3061A>C	7.37:g.19015467A>C			A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R1021	ENST00000441542.2	37	c.3061	CCDS47553.1	7																																																																																			HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.478	HDAC9-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376088.1	-	0	85	0	A			19015467	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	silent	8.99	81	8	SNP	0.999	C	C	19015467	A	C	19015467	2	2	72	1	0	0	0	0	0	0	0	1	7041	63	3	4		4	HDAC9	7	19015467	Silent	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	17427178	19015467	140123196	58	19369											
KCTD7	154881	genome.wustl.edu	37	chr7	66104098	66104098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcactgcctggtcaCggacctctcggcccagggtc	4	8	12	17	2	2	0	1	0	1	0	4	1	2	1	4	4	3	2	4	4	0	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr7:66104098C>T	ENST00000275532.3	+	4	933	c.749C>T	c.(748-750)aCg>aTg	p.T250M	KCTD7_ENST00000443322.1_Missense_Mutation_p.T250M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	250					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGCCTGGTCACGGACCTCTCG	0.582																																																	0													150	105	121					7																	66104098		2203	4300	6503	SO:0001583	missense	0			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.749C>T	7.37:g.66104098C>T	ENSP00000275532:p.Thr250Met		A4D2M4|Q8IVR0	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.T250M	ENST00000275532.3	37	c.749	CCDS5534.1	7	.	.	.	.	.	.	.	.	.	.	C	7.652	0.683131	0.14907	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.63255	-0.02;-0.03	5.47	5.47	0.80525	.	.	.	.	.	T	0.45135	0.1327	N	0.03983	-0.305	0.80722	D	1	D	0.61080	0.989	P	0.47470	0.548	T	0.46748	-0.9169	9	0.13108	T	0.6	.	18.3248	0.90250	0.0:1.0:0.0:0.0	.	250	Q96MP8	KCTD7_HUMAN	M	250	ENSP00000275532:T250M;ENSP00000411624:T250M	ENSP00000275532:T250M	T	+	2	0	KCTD7	65741533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.824000	0.62701	2.573000	0.86826	0.655000	0.94253	ACG	KCTD7	-	NULL	ENSG00000243335		0.582	KCTD7-001	KNOWN	basic|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251733.2	-	0	42	0	C	NM_153033		66104098	1	tier1	-	no_errors	ENST00000275532	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T	T	66104098	C	T	66104098	3	4	72	1	0	0	0	0	1	0	0	0	8141	536	19	1	763	1	KCTD7	7	66104098	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	47088631	66104098	93034565	59	19370											
SRRT	51593	genome.wustl.edu	37	chr7	100484984	100484984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggagaagctcacgccgttGctgagtgtgcgggagtcact	8	8	16	9	3	2	2	2	1	0	1	2	5	2	3	1	2	3	3	1	2	1	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr7:100484984G>T	ENST00000347433.4	+	16	2177	c.2019G>T	c.(2017-2019)ttG>ttT	p.L673F	SRRT_ENST00000457580.2_Missense_Mutation_p.L673F|SRRT_ENST00000388793.4_Missense_Mutation_p.L672F|SRRT_ENST00000432932.1_Missense_Mutation_p.L672F			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	673					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCACGCCGTTGCTGAGTGTGC	0.567																																																	0													95	99	97					7																	100484984		2203	4300	6503	SO:0001583	missense	0				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"arsenite resistance protein"	614469	"serrate RNA effector molecule homolog (Arabidopsis)"			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2019G>T	7.37:g.100484984G>T	ENSP00000314491:p.Leu673Phe		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.L672F	ENST00000347433.4	37	c.2016	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547928	0.27652	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000342198;ENST00000432932;ENST00000347433;ENST00000448764	.	.	.	4.56	3.68	0.42216	Arsenite-resistance protein 2 (1);	0.000000	0.64402	D	0.000001	T	0.60663	0.2286	L	0.35414	1.06	0.58432	D	0.999993	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.994;0.996;0.996;0.998	T	0.54309	-0.8313	9	0.15952	T	0.53	.	10.3343	0.43841	0.0976:0.0:0.9024:0.0	.	672;672;673;673	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	F	673;672;38;672;673;303	.	ENSP00000344670:L38F	L	+	3	2	SRRT	100322920	1.000000	0.71417	0.927000	0.36925	0.375000	0.29983	1.676000	0.37565	1.132000	0.42129	0.297000	0.19635	TTG	SRRT	-	pfam_Arsenite-R_2	ENSG00000087087		0.567	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	-	0	55	0	G	NM_015908		100484984	1	tier1	-	no_errors	ENST00000388793	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	100484984	G	T	100484984	3	4	72	1	0	0	0	0	1	0	0	0	15219	1310	46	3	2077	3	SRRT	7	100484984	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	34380886	100484984	58653679	60	19371											
ZNHIT1	10467	genome.wustl.edu	37	chr7	100866996	100866996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactacctgacggcctgtGcgggacccccatcgcggccc	6	6	11	18	4	0	1	0	1	0	0	1	2	0	2	5	3	3	0	5	3	2	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr7:100866996G>A	ENST00000305105.2	+	4	844	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	106	Interaction with NR1D2.				negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GACGGCCTGTGCGGGACCCCC	0.662																																																	0													48	53	52					7																	100866996		2203	4300	6503	SO:0001583	missense	0			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"Zinc fingers, HIT-type"	21688	protein-coding gene	gene with protein product	"putative cyclin G1 interacting protein"		"zinc finger protein, subfamily 4A (HIT domain containing), member 1", "zinc finger, HIT domain containing 1"	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.316G>A	7.37:g.100866996G>A	ENSP00000304593:p.Ala106Thr		Q6IB12	Missense_Mutation	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.A106T	ENST00000305105.2	37	c.316	CCDS5716.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.628954	0.96671	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74627	0.3741	M	0.78456	2.415	0.80722	D	1	D	0.54772	0.968	P	0.54856	0.762	T	0.76979	-0.2758	9	0.49607	T	0.09	-22.3848	16.3684	0.83344	0.0:0.0:1.0:0.0	.	106	O43257	ZNHI1_HUMAN	T	106	.	ENSP00000304593:A106T	A	+	1	0	ZNHIT1	100653716	1.000000	0.71417	0.935000	0.37517	0.913000	0.54294	6.955000	0.76007	2.475000	0.83589	0.549000	0.68633	GCG	ZNHIT1	-	NULL	ENSG00000106400		0.662	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT1	HGNC	protein_coding	OTTHUMT00000347488.1		0	29	0	G	NM_006349		100866996	1			no_errors	ENST00000305105	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	A	A	100866996	G	A	100866996	3	1	72	1	0	0	0	0	1	0	0	0	18254	1319	46	3	330	3	ZNHIT1	7	100866996	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	382012	100866996	58271667	61	19372											
LAMB4	22798	genome.wustl.edu	37	chr7	107748211	107748211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatatttgaacactttccaGttgtgtccatagtctgtgga	11	15	8	7	0	1	1	0	1	1	0	3	2	3	2	2	1	1	1	2	1	4	5			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr7:107748211G>T	ENST00000388781.3	-	6	539	c.456C>A	c.(454-456)aaC>aaA	p.N152K	LAMB4_ENST00000388780.3_Missense_Mutation_p.N152K|LAMB4_ENST00000414450.2_Missense_Mutation_p.N152K|LAMB4_ENST00000205386.4_Missense_Mutation_p.N152K|LAMB4_ENST00000418464.1_Missense_Mutation_p.N152K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	152	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACACTTTCCAGTTGTGTCCAT	0.433																																																	0													112	108	109					7																	107748211		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"Laminins"	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.456C>A	7.37:g.107748211G>T	ENSP00000373433:p.Asn152Lys		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.N152K	ENST00000388781.3	37	c.456	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928419	0.52759	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.29;-0.29	5.86	-2.55	0.06288	Laminin, N-terminal (3);	0.240212	0.29100	N	0.013156	T	0.50086	0.1595	N	0.14661	0.345	0.19945	N	0.999944	B	0.15141	0.012	B	0.18871	0.023	T	0.41893	-0.9483	10	0.87932	D	0	.	5.5691	0.17187	0.0586:0.2769:0.2891:0.3755	.	152	A4D0S4	LAMB4_HUMAN	K	152	ENSP00000205386:N152K;ENSP00000373433:N152K;ENSP00000373432:N152K;ENSP00000402353:N152K;ENSP00000402265:N152K	ENSP00000205386:N152K	N	-	3	2	LAMB4	107535447	0.957000	0.32711	0.968000	0.41197	0.970000	0.65996	0.022000	0.13511	-0.158000	0.11040	0.655000	0.94253	AAC	LAMB4	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000091128		0.433	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0	97	0	G	XM_209857		107748211	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.979	T	T	107748211	G	T	107748211	3	4	72	1	0	0	0	0	1	0	0	0	8641	1020	36	3	4945	3	LAMB4	7	107748211	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	6881215	107748211	51390452	62	19373											
PIWIL2	55124	genome.wustl.edu	37	chr8	22147810	22147810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagggctcttcctgctaGctgatgtctcccataaggtc	7	12	11	11	0	2	1	0	1	2	0	5	2	3	2	2	3	2	3	2	3	2	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr8:22147810G>T	ENST00000454009.2	+	10	1641	c.1132G>T	c.(1132-1134)Gct>Tct	p.A378S	PIWIL2_ENST00000356766.6_Missense_Mutation_p.A378S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.A378S	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	378					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTCCTGCTAGCTGATGTCTC	0.478																																																	0													169	135	146					8																	22147810		2203	4300	6503	SO:0001583	missense	0			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"Argonaute/PIWI family"	17644	protein-coding gene	gene with protein product	"Hiwi-like", "cancer/testis antigen 80"	610312	"piwi-like 2 (Drosophila)"			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1132G>T	8.37:g.22147810G>T	ENSP00000406956:p.Ala378Ser		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.A378S	ENST00000454009.2	37	c.1132	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771612	0.69992	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.10099	2.91;2.91;2.91	5.63	5.63	0.86233	Argonaute/Dicer protein, PAZ (1);	0.058943	0.64402	D	0.000002	T	0.16128	0.0388	L	0.59436	1.845	0.46396	D	0.999027	B;B	0.18741	0.013;0.03	B;B	0.19391	0.017;0.025	T	0.01697	-1.1293	10	0.45353	T	0.12	-11.9649	18.8276	0.92124	0.0:0.0:1.0:0.0	.	378;378	E7ECA4;Q8TC59	.;PIWL2_HUMAN	S	378	ENSP00000349208:A378S;ENSP00000428267:A378S;ENSP00000406956:A378S	ENSP00000349208:A378S	A	+	1	0	PIWIL2	22203755	1.000000	0.71417	0.991000	0.47740	0.951000	0.60555	6.733000	0.74796	2.826000	0.97356	0.655000	0.94253	GCT	PIWIL2	-	superfamily_PAZ_dom	ENSG00000197181		0.478	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	-	0	61	0	G			22147810	1	tier1	-	no_errors	ENST00000356766	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	22147810	G	T	22147810	3	4	72	1	0	0	0	0	1	0	0	0	11997	971	34	3	1166	3	PIWIL2	8	22147810	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		22147810	124216212	63	19374											
NPBWR1	2831	genome.wustl.edu	37	chr8	53853167	53853167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccggctgcatgccatgCggctggacagccacgccaag	7	6	14	14	3	0	0	0	0	0	0	0	1	0	1	4	3	5	3	4	3	1	0	rs567536404		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr8:53853167C>T	ENST00000331251.3	+	1	2177	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	234					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.R234W(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCATGCCATGCGGCTGGACAG	0.672																																																	1	Substitution - Missense(1)	large_intestine(1)											30	17	21					8																	53853167		2192	4278	6470	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.700C>T	8.37:g.53853167C>T	ENSP00000330284:p.Arg234Trp		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.R234W	ENST00000331251.3	37	c.700	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559979	0.65538	.	.	ENSG00000183729	ENST00000331251	T	0.40476	1.03	5.32	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.488214	0.17373	N	0.176592	T	0.65302	0.2678	M	0.86651	2.83	0.24137	N	0.995741	D	0.76494	0.999	D	0.63192	0.912	T	0.63355	-0.6656	10	0.72032	D	0.01	.	15.133	0.72539	0.4839:0.5161:0.0:0.0	.	234	P48145	NPBW1_HUMAN	W	234	ENSP00000330284:R234W	ENSP00000330284:R234W	R	+	1	2	NPBWR1	54015720	0.997000	0.39634	0.001000	0.08648	0.954000	0.61252	1.637000	0.37155	0.363000	0.24346	-0.834000	0.03071	CGG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt	ENSG00000183729		0.672	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0	59	0	C	NM_005285		53853167	1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	8.33	66	6	SNP	0.575	T	T	53853167	C	T	53853167	3	4	72	1	0	0	0	0	1	0	0	0	10607	759	27	1	702	1	NPBWR1	8	53853167	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	31705357	53853167	92510855	64	19375											
RIMS2	9699	genome.wustl.edu	37	chr8	104987676	104987676	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccatcagggtctcctcatCgagtagatgttataggaagg	11	10	11	9	1	3	1	2	0	1	1	5	3	3	2	2	3	0	2	2	3	4	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr8:104987676C>T	ENST00000436393.2	+	14	2444	c.2203C>T	c.(2203-2205)Cga>Tga	p.R735*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.R957*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.R749*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.R796*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1019	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCTCCTCATCGAGTAGATGT	0.418										HNSCC(12;0.0054)																																							0													109	106	107					8																	104987676		1915	4122	6037	SO:0001587	stop_gained	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2203C>T	8.37:g.104987676C>T	ENSP00000390665:p.Arg735*		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R957*	ENST00000436393.2	37	c.2869		8	.	.	.	.	.	.	.	.	.	.	C	38	7.101383	0.98063	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	4.98	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3175	0.54966	0.3328:0.6672:0.0:0.0	.	.	.	.	X	957;972;957;1019;796;749;749;735	.	ENSP00000262231:R796X	R	+	1	2	RIMS2	105056852	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.753000	0.47524	0.551000	0.29008	0.561000	0.74099	CGA	RIMS2	-	NULL	ENSG00000176406		0.418	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	66	0	C	NM_001100117		104987676	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	nonsense	10.71	50	6	SNP	1.000	T	T	104987676	C	T	104987676	4	4	72	1	0	0	0	0	0	1	0	0	13413	876	31	1	3057	1	RIMS2	8	104987676	Nonsense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	51134509	104987676	41376346	65	19376											
CSMD3	114788	genome.wustl.edu	37	chr8	113504850	113504850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttgaccctaatttataatCcattccaagtctggtgccat	10	15	6	10	0	1	1	0	1	1	0	3	1	3	1	4	1	1	1	4	1	4	6			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr8:113504850C>T	ENST00000297405.5	-	31	5390	c.5146G>A	c.(5146-5148)Gat>Aat	p.D1716N	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1676N|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1612N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1716N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1716	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTATAATCCATTCCAAGT	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													171	153	159					8																	113504850		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5146G>A	8.37:g.113504850C>T	ENSP00000297405:p.Asp1716Asn		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D1716N	ENST00000297405.5	37	c.5146	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.088240	0.94100	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	4.9	4.9	0.64082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	L	0.31065	0.9	0.45129	D	0.998143	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.947;0.969;0.986	T	0.14531	-1.0469	10	0.44086	T	0.13	.	18.6241	0.91331	0.0:1.0:0.0:0.0	.	1612;1716;1676	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1676;1716;1056;1612;1716	ENSP00000345799:D1676N;ENSP00000297405:D1716N;ENSP00000341558:D1056N;ENSP00000412263:D1612N;ENSP00000343124:D1716N	ENSP00000297405:D1716N	D	-	1	0	CSMD3	113574026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.493000	0.81493	2.704000	0.92352	0.585000	0.79938	GAT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	72	0	C	NM_052900		113504850	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	113504850	C	T	113504850	3	4	72	1	0	0	0	0	1	0	0	0	3955	855	30	3	6141	3	CSMD3	8	113504850	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	8517174	113504850	32859172	66	19377											
WDR67	93594	genome.wustl.edu	37	chr8	124089435	124089435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttttgatggcacaggCgactgcttaattgctgggga	7	12	15	7	1	0	1	0	1	0	0	0	3	0	2	0	5	2	4	0	5	1	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr8:124089435C>T	ENST00000287380.1	+	2	252	c.162C>T	c.(160-162)ggC>ggT	p.G54G	TBC1D31_ENST00000522420.1_5'UTR|TBC1D31_ENST00000521676.1_5'UTR|TBC1D31_ENST00000327098.5_Silent_p.G54G|TBC1D31_ENST00000309336.3_Silent_p.G54G|TBC1D31_ENST00000378080.2_5'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	54						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										ATGGCACAGGCGACTGCTTAA	0.358																																																	0													137	131	133					8																	124089435		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"WD repeat domain containing"	30888	protein-coding gene	gene with protein product			"WD repeat domain 67"	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.162C>T	8.37:g.124089435C>T			B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.G54	ENST00000287380.1	37	c.162	CCDS6338.1	8																																																																																			TBC1D31	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000156787		0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1	-	0	69	0	C	NM_145647		124089435	1	tier1	-	no_errors	ENST00000287380	ensembl	human	known	74_37	silent	9.84	55	6	SNP	0.690	T	T	124089435	C	T	124089435	2	4	72	1	0	0	0	0	0	0	0	1	17367	755	27	1		1	WDR67	8	124089435	Silent	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	10584585	124089435	22274587	67	19378											
EPPK1	83481	genome.wustl.edu	37	chr8	144941006	144941006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttctatacatcctcaccAgctggagcttcttctcctct	6	15	6	14	0	5	0	1	0	4	0	7	1	6	1	3	1	3	3	3	1	2	5			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr8:144941006A>G	ENST00000525985.1	-	2	6487	c.6416T>C	c.(6415-6417)cTg>cCg	p.L2139P				P58107	EPIPL_HUMAN	epiplakin 1	2139						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCCTCACCAGCTGGAGCTT	0.512																																																	0													209	214	213					8																	144941006		2068	4200	6268	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6416T>C	8.37:g.144941006A>G	ENSP00000436337:p.Leu2139Pro		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L2139P	ENST00000525985.1	37	c.6416		8	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358527	0.41801	.	.	ENSG00000227184	ENST00000525985	T	0.79352	-1.26	4.39	4.39	0.52855	.	.	.	.	.	D	0.87095	0.6092	M	0.81341	2.54	0.26000	N	0.98213	D	0.76494	0.999	D	0.75484	0.986	T	0.78234	-0.2283	9	0.41790	T	0.15	.	11.6185	0.51104	1.0:0.0:0.0:0.0	.	2139	E9PPU0	.	P	2139	ENSP00000436337:L2139P	ENSP00000436337:L2139P	L	-	2	0	EPPK1	145012994	0.347000	0.24853	0.004000	0.12327	0.024000	0.10985	4.806000	0.62569	1.842000	0.53543	0.377000	0.23210	CTG	EPPK1	-	NULL	ENSG00000227184		0.512	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1		0	52	0	A	NM_031308		144941006	-1			no_errors	ENST00000525985	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.055	G	G	144941006	A	G	144941006	3	3	72	1	0	0	0	0	1	0	0	0	5206	188	7	4	850	4	EPPK1	8	144941006	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	20851571	144941006	1423016	68	19379											
RFX3	5991	genome.wustl.edu	37	chr9	3270497	3270497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttatcagctttgctttcgGaagtcgactttctatttcac	8	17	7	9	2	3	0	2	0	1	0	5	2	3	1	0	1	2	3	0	1	3	6			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:3270497G>T	ENST00000382004.3	-	12	1542	c.1231C>A	c.(1231-1233)Ccg>Acg	p.P411T	RFX3_ENST00000302303.1_Missense_Mutation_p.P411T|RFX3_ENST00000358730.2_Missense_Mutation_p.P411T	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	411					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTGCTTTCGGAAGTCGACTT	0.378																																																	0													94	85	88					9																	3270497		2203	4300	6503	SO:0001583	missense	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1231C>A	9.37:g.3270497G>T	ENSP00000371434:p.Pro411Thr		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P411T	ENST00000382004.3	37	c.1231	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284819	0.59867	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.07021	3.23;3.23;3.23	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	M	0.65498	2.005	0.80722	D	1	B;B	0.26400	0.022;0.148	B;B	0.25405	0.06;0.051	T	0.02251	-1.1188	10	0.38643	T	0.18	-13.4452	19.8769	0.96880	0.0:0.0:1.0:0.0	.	411;411	P48380-2;P48380	.;RFX3_HUMAN	T	411	ENSP00000371434:P411T;ENSP00000351574:P411T;ENSP00000303847:P411T	ENSP00000303847:P411T	P	-	1	0	RFX3	3260497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.025000	0.88777	2.712000	0.92718	0.650000	0.86243	CCG	RFX3	-	NULL	ENSG00000080298		0.378	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0	74	0	G	NM_002919		3270497	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	3270497	G	T	3270497	3	4	72	1	0	0	0	0	1	0	0	0	13309	1174	41	3	1202	3	RFX3	9	3270497	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		3270497	137942934	69	19380											
NTRK2	4915	genome.wustl.edu	37	chr9	87325707	87325707	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgcagatacccaattgtgGtaatttatttttaaatcaat	13	16	5	7	0	1	1	1	0	0	1	1	1	1	1	2	1	2	2	2	1	7	8			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:87325707G>T	ENST00000323115.4	+	5	936		c.e5+1		NTRK2_ENST00000376213.1_Splice_Site|NTRK2_ENST00000395866.2_Splice_Site|NTRK2_ENST00000359847.3_Splice_Site|NTRK2_ENST00000277120.3_Splice_Site|NTRK2_ENST00000304053.6_Splice_Site|NTRK2_ENST00000376214.1_Splice_Site|NTRK2_ENST00000376208.1_Splice_Site|NTRK2_ENST00000395882.1_Splice_Site			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2						activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CCCAATTGTGGTAATTTATTT	0.398										TSP Lung(25;0.17)																																							0													86	85	85					9																	87325707		2203	4300	6503	SO:0001630	splice_region_variant	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.583+1G>T	9.37:g.87325707G>T			B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Splice_Site	SNP	-	e5+1	ENST00000323115.4	37	c.583+1	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274724	0.80580	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7637	0.91864	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTRK2	86515527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.379000	0.73154	2.740000	0.93945	0.557000	0.71058	.	NTRK2	-	-	ENSG00000148053		0.398	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0	67	0	G		Intron	87325707	1			no_errors	ENST00000277120	ensembl	human	known	74_37	splice_site	5.33	71	4	SNP	1.000	T	T	87325707	G	T	87325707	5	4	72	1	0	0	0	0	0	0	1	0	10746	1275	44	3	602	3	NTRK2	9	87325707	Splice_Site	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	84055210	87325707	53887724	70	19381											
PHF2	5253	genome.wustl.edu	37	chr9	96428105	96428105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcaagatcgacgagtttcCcatcaggaggaagaaaaacg	15	6	11	9	3	2	2	2	0	0	2	4	6	3	4	1	2	1	2	1	2	4	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:96428105C>T	ENST00000359246.4	+	15	2442	c.2075C>T	c.(2074-2076)cCc>cTc	p.P692L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	692					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GACGAGTTTCCCATCAGGAGG	0.592																																																	0													101	111	107					9																	96428105		2203	4300	6503	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2075C>T	9.37:g.96428105C>T	ENSP00000352185:p.Pro692Leu		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P692L	ENST00000359246.4	37	c.2075	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	c	20.0	3.930168	0.73327	.	.	ENSG00000197724	ENST00000359246	T	0.21543	2.0	5.22	4.33	0.51752	.	0.168854	0.53938	N	0.000054	T	0.34629	0.0904	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.923;0.997	T	0.09185	-1.0686	10	0.08381	T	0.77	-18.8606	14.0202	0.64550	0.0:0.9269:0.0:0.073	.	110;692	Q8N359;O75151	.;PHF2_HUMAN	L	692	ENSP00000352185:P692L	ENSP00000352185:P692L	P	+	2	0	PHF2	95467926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.622000	0.67750	1.213000	0.43380	-0.185000	0.12909	CCC	PHF2	-	NULL	ENSG00000197724		0.592	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0	107	0	C	NM_005392		96428105	1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	6.12	92	6	SNP	1.000	T	T	96428105	C	T	96428105	3	4	72	1	0	0	0	0	1	0	0	0	11869	623	22	3	2133	3	PHF2	9	96428105	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	9102398	96428105	44785326	71	19382											
AKAP2	11217	genome.wustl.edu	37	chr9	112898623	112898623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctattcacccccgcataatGgcctccttactgatcaccac	9	11	4	17	1	3	1	2	1	1	0	4	1	4	1	5	1	1	1	5	1	3	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:112898623G>T	ENST00000259318.7	+	2	313	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.G267C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G267C|AKAP2_ENST00000555236.1_Missense_Mutation_p.G267C|AKAP2_ENST00000434623.2_Missense_Mutation_p.G125C|AKAP2_ENST00000510514.5_Missense_Mutation_p.G267C|AKAP2_ENST00000374525.1_Missense_Mutation_p.G125C	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	36										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CCCGCATAATGGCCTCCTTAC	0.493																																																	0													181	162	168					9																	112898623		2203	4300	6503	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.106G>T	9.37:g.112898623G>T	ENSP00000259318:p.Gly36Cys		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.G267C	ENST00000259318.7	37	c.799	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447863	0.84101	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52057	1.99;1.99;1.99;1.99;1.28;0.7;0.68;1.3	6.17	6.17	0.99709	.	0.182670	0.37906	N	0.001895	T	0.69797	0.3151	M	0.68952	2.095	0.48395	D	0.999647	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;D;D;D;D	0.97110	0.994;1.0;1.0;1.0;1.0;0.983;0.983;0.962	T	0.69292	-0.5183	10	0.87932	D	0	-32.2944	19.8676	0.96824	0.0:0.0:1.0:0.0	.	36;125;119;125;126;267;267;85	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	C	267;267;267;267;125;125;85;36	ENSP00000363654:G267C;ENSP00000305861:G267C;ENSP00000451476:G267C;ENSP00000421522:G267C;ENSP00000404782:G125C;ENSP00000363649:G125C;ENSP00000419268:G85C;ENSP00000259318:G36C	ENSP00000259318:G36C	G	+	1	0	PALM2-AKAP2;AKAP2	111938444	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.241000	0.78201	2.941000	0.99782	0.655000	0.94253	GGC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	-	0	50	0	G	NM_001004065		112898623	1	tier1	-	no_errors	ENST00000374530	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	112898623	G	T	112898623	3	4	72	1	0	0	0	0	1	0	0	0	451	1348	47	3	379	3	AKAP2	9	112898623	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	16470518	112898623	28314808	72	19383											
AMBP	259	genome.wustl.edu	37	chr9	116840418	116840418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggatgttgtcgggcggCgttggcacagggccagcgct	5	9	17	10	4	0	0	0	0	0	0	1	1	0	1	1	5	1	4	1	5	0	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:116840418C>T	ENST00000265132.3	-	1	334	c.72G>A	c.(70-72)acG>acA	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617																																																	0													108	118	114					9																	116840418		2203	4300	6503	SO:0001819	synonymous_variant	0			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"Lipocalins"	453	protein-coding gene	gene with protein product	"growth-inhibiting protein 19", "uristatin", "complex-forming glycoprotein heterogeneous in charge", "bikunin", "inter-alpha-trypsin inhibitor light chain", "protein HC", "uronic-acid-rich protein", "trypstatin"	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.72G>A	9.37:g.116840418C>T			P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin	p.T24	ENST00000265132.3	37	c.72	CCDS6800.1	9																																																																																			AMBP	-	superfamily_Calycin-like	ENSG00000106927		0.617	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBP	HGNC	protein_coding	OTTHUMT00000053758.2	-	0	71	0	C	NM_001633		116840418	-1	tier1	-	no_errors	ENST00000265132	ensembl	human	known	74_37	silent	12.33	64	9	SNP	0.000	T	T	116840418	C	T	116840418	2	4	72	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116840418	Silent	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	3941795	116840418	24373013	73	19384											
STRBP	55342	genome.wustl.edu	37	chr9	125898354	125898354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttttcttattatttgccGcattgggtccagaaaacagt	9	17	7	8	1	2	1	0	0	2	1	3	1	3	1	2	1	2	1	2	1	4	6			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:125898354G>A	ENST00000348403.5	-	16	2168	c.1739C>T	c.(1738-1740)gCg>gTg	p.A580V	STRBP_ENST00000447404.2_Missense_Mutation_p.A580V|STRBP_ENST00000360998.3_Missense_Mutation_p.A566V	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	580					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A580V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATTATTTGCCGCATTGGGTCC	0.398																																																	1	Substitution - Missense(1)	endometrium(1)											121	118	119					9																	125898354		2203	4300	6503	SO:0001583	missense	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"spermatid perinuclear RNA-binding protein", "interleukin enhancer binding factor 3-like"	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1739C>T	9.37:g.125898354G>A	ENSP00000321347:p.Ala580Val		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.A580V	ENST00000348403.5	37	c.1739	CCDS6851.1	9	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010221	0.93346	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.18960	2.44;2.44;2.18	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.65815	0.991;0.995	B;P	0.46237	0.311;0.508	T	0.01341	-1.1380	10	0.49607	T	0.09	-13.414	14.512	0.67794	0.0698:0.0:0.9302:0.0	.	580;566	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	V	580;580;566	ENSP00000415968:A580V;ENSP00000321347:A580V;ENSP00000354271:A566V	ENSP00000321347:A580V	A	-	2	0	STRBP	124938175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.389000	0.46526	0.655000	0.94253	GCG	STRBP	-	NULL	ENSG00000165209		0.398	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	-	0	59	0	G			125898354	-1	tier1	-	no_errors	ENST00000348403	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	125898354	G	A	125898354	3	1	72	1	0	0	0	0	1	0	0	0	15374	1087	38	1	295	1	STRBP	9	125898354	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	9057936	125898354	15315077	74	19385											
NOTCH1	4851	genome.wustl.edu	37	chr9	139410452	139410452	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccgtgcacacacaggtGtaagtgttgggtccgtccag	7	10	12	12	2	0	0	0	0	0	0	3	0	3	0	4	2	1	3	4	2	1	3	rs371634784		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:139410452G>C	ENST00000277541.6	-	10	1725	c.1650C>G	c.(1648-1650)taC>taG	p.Y550*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	550	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACACACAGGTGTAAGTGTTGG	0.632			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													42	48	46					9																	139410452		2044	4189	6233	SO:0001587	stop_gained	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1650C>G	9.37:g.139410452G>C	ENSP00000277541:p.Tyr550*		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.Y550*	ENST00000277541.6	37	c.1650	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.312660	0.98203	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.88	3.96	0.45880	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6621	0.56820	0.0823:0.0:0.9177:0.0	.	.	.	.	X	550	.	ENSP00000277541:Y550X	Y	-	3	2	NOTCH1	138530273	1.000000	0.71417	0.989000	0.46669	0.804000	0.45430	3.168000	0.50801	0.992000	0.38840	0.563000	0.77884	TAC	NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.632	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	113	0	G	NM_017617		139410452	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	nonsense	16.16	83	16	SNP	1.000	C	C	139410452	G	C	139410452	4	2	72	1	0	0	0	0	0	1	0	0	10586	1372	48	5	6117	5	NOTCH1	9	139410452	Nonsense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	13512098	139410452	1802979	75	19386											
NOTCH1	4851	genome.wustl.edu	37	chr9	139418432	139418432	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacgaaggccccgccacagCtgttggcagatgtgccaggg	8	5	14	14	2	0	1	0	0	0	1	0	2	0	1	5	3	2	3	5	3	1	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr9:139418432C>A	ENST00000277541.6	-	3	216		c.e3-1		NOTCH1_ENST00000491649.1_5'Flank	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCGCCACAGCTGTTGGCAGA	0.692			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													5	8	7					9																	139418432		1856	4006	5862	SO:0001630	splice_region_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.141-1G>T	9.37:g.139418432C>A			Q59ED8|Q5SXM3	Splice_Site	SNP	-	e3-1	ENST00000277541.6	37	c.141-1	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280494	0.40294	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0172	0.80450	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138538253	1.000000	0.71417	0.999000	0.59377	0.366000	0.29705	6.109000	0.71528	2.103000	0.63969	0.561000	0.74099	.	NOTCH1	-	-	ENSG00000148400		0.692	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	12	0	C	NM_017617	Intron	139418432	-1			no_errors	ENST00000277541	ensembl	human	known	74_37	splice_site	10.53	17	2	SNP	1.000	A	A	139418432	C	A	139418432	5	1	72	1	0	0	0	0	0	0	1	0	10586	811	28	3	7655	3	NOTCH1	9	139418432	Splice_Site	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	7980	139418432	1794999	76	19387											
C10orf18	54906	genome.wustl.edu	37	chr10	5784218	5784218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgtctataaatagcaCgttagaatcttgtgagctcc	12	14	8	7	1	2	2	0	1	2	1	3	2	3	2	1	0	2	3	1	0	7	6			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr10:5784218C>T	ENST00000328090.5	+	14	3111	c.2486C>T	c.(2485-2487)aCg>aTg	p.T829M	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	829																	ATAAATAGCACGTTAGAATCT	0.418																																																	0													111	104	106					10																	5784218		1861	4095	5956	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2486C>T	10.37:g.5784218C>T	ENSP00000328426:p.Thr829Met		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.T829M	ENST00000328090.5	37	c.2486	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236968	0.39498	.	.	ENSG00000108021	ENST00000328090	D	0.98701	-5.08	5.71	3.88	0.44766	.	0.296244	0.29646	N	0.011566	D	0.97832	0.9288	M	0.69823	2.125	0.18873	N	0.999989	D	0.63046	0.992	P	0.49477	0.612	D	0.94363	0.7589	10	0.72032	D	0.01	.	8.4051	0.32610	0.0:0.7027:0.0:0.2973	.	829	Q5VWN6	F208B_HUMAN	M	829	ENSP00000328426:T829M	ENSP00000328426:T829M	T	+	2	0	C10orf18	5824224	0.019000	0.18553	0.537000	0.28052	0.415000	0.31203	0.355000	0.20163	0.778000	0.33520	-0.140000	0.14226	ACG	FAM208B	-	pfam_DUF3715	ENSG00000108021		0.418	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2		0	116	0	C	NM_017782		5784218	1			no_errors	ENST00000328090	ensembl	human	known	74_37	missense	5.05	94	5	SNP	0.371	T	T	5784218	C	T	5784218	3	4	72	1	0	0	0	0	1	0	0	0	1601	536	19	1	2528	1	C10orf18	10	5784218	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09		5784218	129750529	77	19388											
PARD3	56288	genome.wustl.edu	37	chr10	34985330	34985331	+	Frame_Shift_Ins	INS	-	-	A																															gttccaagcgatgcacctgtINSatccagtagtttggatccta																										TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr10:34985330_34985331insA	ENST00000374789.3	-	2	462_463	c.137_138insT	c.(136-138)atafs	p.I46fs	PARD3_ENST00000350537.4_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000340077.5_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000374773.1_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000374776.1_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.I46fs|PARD3_ENST00000374794.3_Frame_Shift_Ins_p.I46fs	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	46					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GATGCACCTGTATCCAGTAGTT	0.406																																																	0																																										SO:0001589	frameshift_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.138dupT	10.37:g.34985331_34985331dupA	ENSP00000363921:p.Ile46fs		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Frame_Shift_Ins	INS	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Q47fs	ENST00000374789.3	37	c.138_137	CCDS7178.1	10																																																																																			PARD3	-	pfam_DUF3534	ENSG00000148498		0.406	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1		0	63	0	-	NM_019619		34985331	-1	tier1		no_errors	ENST00000374789	ensembl	human	known	74_37	frame_shift_ins	13.46	45	7	INS	1.000:1.000	A	A	34985331	-	A	34985330	7	5	72	1	0	1	1	0	0	0	0	0	11482	1628	57	0	4063	0	PARD3	10	34985330	Frame_Shift_Ins	INS	-	TCGA-L5-A88T-01A-11D-A351-09	29201112	34985330	100549417	78	19389											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37506796	37506796	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaagagtgtagaaagtaAtttgaatcaggtaaatcaat	18	12	9	2	0	2	4	2	2	0	2	2	4	2	4	0	1	0	3	0	1	8	5			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr10:37506796A>C	ENST00000602533.1	+	33	3188	c.3089A>C	c.(3088-3090)aAt>aCt	p.N1030T	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.N1149T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.N1030T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1086					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTAGAAAGTAATTTGAATCAG	0.284																																																	0													54	52	52					10																	37506796		1795	4059	5854	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3089A>C	10.37:g.37506796A>C	ENSP00000473551:p.Asn1030Thr		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N1030T	ENST00000602533.1	37	c.3089		10	.	.	.	.	.	.	.	.	.	.	a	6.546	0.469004	0.12461	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.20332	2.08;2.08	2.78	1.62	0.23740	.	.	.	.	.	T	0.15262	0.0368	L	0.41124	1.26	0.09310	N	1	B	0.20671	0.047	B	0.22386	0.039	T	0.30060	-0.9991	9	0.51188	T	0.08	.	2.9645	0.05903	0.5909:0.2594:0.1497:0.0	.	1086	Q9BXX3	AN30A_HUMAN	T	1030;1149	ENSP00000354432:N1030T;ENSP00000363792:N1149T	ENSP00000354432:N1030T	N	+	2	0	ANKRD30A	37546802	0.002000	0.14202	0.001000	0.08648	0.017000	0.09413	1.231000	0.32624	0.207000	0.20607	0.392000	0.25879	AAT	ANKRD30A	-	NULL	ENSG00000148513		0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	79	0	A	NM_052997		37506796	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.006	C	C	37506796	A	C	37506796	3	2	72	1	0	0	0	0	1	0	0	0	658	101	4	4	3219	4	ANKRD30A	10	37506796	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	2521466	37506796	98027951	79	19390											
TNKS2	80351	genome.wustl.edu	37	chr10	93621795	93621795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaaccttgggaaagtctttCctgcagttcagtgcaatgaa	11	12	10	8	0	2	1	1	1	1	0	3	2	3	2	2	1	3	4	2	1	4	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr10:93621795C>A	ENST00000371627.4	+	26	3700	c.3321C>A	c.(3319-3321)ttC>ttA	p.F1107L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1107	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GAAAGTCTTTCCTGCAGTTCA	0.423																																																	0													168	158	162					10																	93621795		2203	4300	6503	SO:0001583	missense	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3321C>A	10.37:g.93621795C>A	ENSP00000360689:p.Phe1107Leu		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.F1107L	ENST00000371627.4	37	c.3321	CCDS7417.1	10	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716034	0.89205	.	.	ENSG00000107854	ENST00000371627	T	0.13196	2.61	5.59	4.69	0.59074	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.64402	D	0.000008	T	0.31765	0.0807	L	0.60067	1.865	0.58432	D	0.999993	D	0.76494	0.999	D	0.75484	0.986	T	0.02909	-1.1095	10	0.87932	D	0	.	11.5085	0.50481	0.0:0.856:0.0:0.144	.	1107	Q9H2K2	TNKS2_HUMAN	L	1107	ENSP00000360689:F1107L	ENSP00000360689:F1107L	F	+	3	2	TNKS2	93611775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.791000	0.38744	1.380000	0.46344	0.585000	0.79938	TTC	TNKS2	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000107854		0.423	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	-	0	99	0	C	NM_025235		93621795	1	tier1	-	no_errors	ENST00000371627	ensembl	human	known	74_37	missense	8.79	83	8	SNP	1.000	A	A	93621795	C	A	93621795	3	1	72	1	0	0	0	0	1	0	0	0	16368	854	30	3	3423	3	TNKS2	10	93621795	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	56114999	93621795	41912952	80	19391											
MICAL2	9645	genome.wustl.edu	37	chr11	12278459	12278459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaccgggagtgtttccGctgcagcatctgtgccacca	6	10	10	15	2	1	0	0	0	1	0	3	1	3	1	5	1	3	4	5	1	0	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr11:12278459G>A	ENST00000256194.4	+	24	3371	c.3083G>A	c.(3082-3084)cGc>cAc	p.R1028H	MICAL2_ENST00000537344.1_Missense_Mutation_p.R838H|MICAL2_ENST00000527546.1_Missense_Mutation_p.R838H|MICAL2_ENST00000379612.3_Missense_Mutation_p.R802H|MICAL2_ENST00000342902.5_Missense_Mutation_p.R1007H	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1028	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAGTGTTTCCGCTGCAGCATC	0.612																																																	0													110	89	96					11																	12278459		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3083G>A	11.37:g.12278459G>A	ENSP00000256194:p.Arg1028His		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R1028H	ENST00000256194.4	37	c.3083	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195190	0.78902	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	5.17	4.25	0.50352	Zinc finger, LIM-type (5);	0.145385	0.40064	N	0.001192	D	0.90796	0.7110	M	0.79011	2.435	0.25573	N	0.986873	D;D;P;P;P;D	0.76494	0.999;0.979;0.95;0.79;0.95;0.987	D;P;P;P;P;P	0.65874	0.939;0.721;0.467;0.77;0.595;0.861	D	0.83465	0.0056	10	0.87932	D	0	.	5.1893	0.15201	0.29:0.0:0.71:0.0	.	371;1007;838;781;802;1028	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	H	838;371;1028;838;1007;802	ENSP00000441689:R838H;ENSP00000256194:R1028H;ENSP00000433965:R838H;ENSP00000344894:R1007H;ENSP00000368932:R802H	ENSP00000256194:R1028H	R	+	2	0	MICAL2	12235035	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.742000	0.62103	2.407000	0.81776	0.655000	0.94253	CGC	MICAL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000133816		0.612	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0	38	0	G	NM_014632		12278459	1			no_errors	ENST00000256194	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	12278459	G	A	12278459	3	1	72	1	0	0	0	0	1	0	0	0	9608	1087	38	1	3169	1	MICAL2	11	12278459	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		12278459	122728057	81	19392											
OR10Q1	219960	genome.wustl.edu	37	chr11	57995652	57995652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccctcggcagaacggatGctcaggatggcacaggtgat	9	6	15	11	3	1	2	1	1	0	1	2	4	1	4	1	6	2	3	1	6	1	0	rs369464101		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr11:57995652G>T	ENST00000316770.2	-	1	738	c.696C>A	c.(694-696)agC>agA	p.S232R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S232R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CAGAACGGATGCTCAGGATGG	0.622																																																	1	Substitution - Missense(1)	lung(1)											62	55	57					11																	57995652		2201	4295	6496	SO:0001583	missense	0			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.696C>A	11.37:g.57995652G>T	ENSP00000314324:p.Ser232Arg		Q6IFG4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S232R	ENST00000316770.2	37	c.696	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	G	1.208	-0.630618	0.03584	.	.	ENSG00000180475	ENST00000316770	T	0.00019	9.06	4.84	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.330438	0.22050	N	0.065333	T	0.00039	0.0001	N	0.00082	-2.215	0.20821	N	0.999847	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.05525	T	0.97	.	8.4009	0.32586	0.0:0.318:0.5181:0.1639	.	232	Q8NGQ4	O10Q1_HUMAN	R	232	ENSP00000314324:S232R	ENSP00000314324:S232R	S	-	3	2	OR10Q1	57752228	0.004000	0.15560	1.000000	0.80357	0.146000	0.21551	0.067000	0.14510	1.237000	0.43756	0.580000	0.79431	AGC	OR10Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180475		0.622	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1		0	39	0	G	NM_001004471		57995652	-1			no_errors	ENST00000316770	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.968	T	T	57995652	G	T	57995652	3	4	72	1	0	0	0	0	1	0	0	0	10955	1310	46	3	267	3	OR10Q1	11	57995652	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	45717193	57995652	77010864	82	19393											
RCE1	9986	genome.wustl.edu	37	chr11	66613012	66613012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcttcggtgcctacactGctttcctcttcatccgcaca	5	14	6	16	2	3	0	1	0	2	0	6	0	5	0	3	1	3	2	3	1	1	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr11:66613012G>T	ENST00000309657.3	+	7	777	c.733G>T	c.(733-735)Gct>Tct	p.A245S	RCE1_ENST00000524506.1_Intron|RCE1_ENST00000525356.1_Missense_Mutation_p.A122S	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	245					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGCCTACACTGCTTTCCTCTT	0.597																																																	0													153	124	134					11																	66613012		2200	4295	6495	SO:0001583	missense	0			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.733G>T	11.37:g.66613012G>T	ENSP00000309163:p.Ala245Ser		Q52LZ9	Missense_Mutation	SNP	pfam_CAAX_protease	p.A245S	ENST00000309657.3	37	c.733	CCDS8151.1	11	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676819	0.67928	.	.	ENSG00000173653	ENST00000309657;ENST00000525356	.	.	.	5.46	5.46	0.80206	.	0.129731	0.50627	D	0.000107	T	0.56277	0.1974	L	0.45051	1.395	0.80722	D	1	B	0.19706	0.038	B	0.17979	0.02	T	0.51092	-0.8749	9	0.35671	T	0.21	-2.8195	16.8044	0.85622	0.0:0.0:1.0:0.0	.	245	Q9Y256	FACE2_HUMAN	S	245;122	.	ENSP00000309163:A245S	A	+	1	0	RCE1	66369588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.133000	0.94460	2.577000	0.86979	0.655000	0.94253	GCT	RCE1	-	pfam_CAAX_protease	ENSG00000173653		0.597	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	HGNC	protein_coding	OTTHUMT00000393105.1		0	30	0	G	NM_005133		66613012	1			no_errors	ENST00000309657	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	66613012	G	T	66613012	3	4	72	1	0	0	0	0	1	0	0	0	13221	1319	46	3	759	3	RCE1	11	66613012	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	8617360	66613012	68393504	83	19394											
C2CD3	26005	genome.wustl.edu	37	chr11	73829364	73829364	+	Frame_Shift_Del	DEL	T	T	-																															aagagctgttgactggcttaTttttttagaagggacgatat																										TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr11:73829364delT	ENST00000334126.7	-	9	1655	c.1429delA	c.(1429-1431)atafs	p.I477fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.I477fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	477					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GACTGGCTTATTTTTTTAGAA	0.433																																																	0													119	112	115					11																	73829364		2200	4293	6493	SO:0001589	frameshift_variant	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1429delA	11.37:g.73829364delT	ENSP00000334379:p.Ile477fs		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.I477fs	ENST00000334126.7	37	c.1429		11																																																																																			C2CD3	-	NULL	ENSG00000168014		0.433	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding			0	37	0	T	NM_015531		73829364	-1	tier1		no_errors	ENST00000334126	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	0.966	-	-	73829364	T	-	73829364	7	5	72	1	0	1	0	1	0	0	0	0	2161	1493	52	0	4554	0	C2CD3	11	73829364	Frame_Shift_Del	DEL	T	TCGA-L5-A88T-01A-11D-A351-09	7216352	73829364	61177152	84	19395											
RNF26	79102	genome.wustl.edu	37	chr11	119206725	119206725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcagtctgcagctggCgagttggccaaaccggggag	8	5	17	11	3	1	0	0	0	1	0	1	3	1	1	3	4	4	4	3	4	1	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr11:119206725C>T	ENST00000311413.4	+	1	1489	c.893C>T	c.(892-894)gCg>gTg	p.A298V	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	298						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		CTGCAGCTGGCGAGTTGGCCA	0.632																																																	0													27	31	29					11																	119206725		2199	4295	6494	SO:0001583	missense	0			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"RING-type (C3HC4) zinc fingers"	14646	protein-coding gene	gene with protein product	"ring finger protein with leucine zipper"	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.893C>T	11.37:g.119206725C>T	ENSP00000312439:p.Ala298Val		Q542Y8	Missense_Mutation	SNP	pfscan_Znf_RING	p.A298V	ENST00000311413.4	37	c.893	CCDS8419.1	11	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650263	0.29336	.	.	ENSG00000173456	ENST00000311413	T	0.31769	1.48	5.42	4.44	0.53790	.	0.499266	0.18939	N	0.126992	T	0.23727	0.0574	L	0.44542	1.39	0.31641	N	0.648085	B	0.11235	0.004	B	0.06405	0.002	T	0.17471	-1.0368	10	0.27082	T	0.32	-8.5103	7.6492	0.28337	0.0:0.7445:0.1587:0.0968	.	298	Q9BY78	RNF26_HUMAN	V	298	ENSP00000312439:A298V	ENSP00000312439:A298V	A	+	2	0	RNF26	118711935	0.956000	0.32656	0.810000	0.32431	0.284000	0.27059	2.065000	0.41442	1.142000	0.42291	0.491000	0.48974	GCG	RNF26	-	NULL	ENSG00000173456		0.632	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	-	0	74	0	C	NM_032015		119206725	1	tier1	-	no_errors	ENST00000311413	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.983	T	T	119206725	C	T	119206725	3	4	72	1	0	0	0	0	1	0	0	0	13531	768	27	1	895	1	RNF26	11	119206725	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	45377361	119206725	15799791	85	19396											
OR6M1	390261	genome.wustl.edu	37	chr11	123676901	123676901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacattggagtttgcaGgcgatgatcaatccatatca	13	11	10	7	1	2	1	2	1	0	0	3	4	3	2	1	2	2	3	1	2	4	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr11:123676901G>T	ENST00000309154.2	-	1	194	c.157C>A	c.(157-159)Ctg>Atg	p.L53M		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGAGTTTGCAGGCGATGATCA	0.428																																																	0													161	142	148					11																	123676901		2202	4299	6501	SO:0001583	missense	0			AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"GPCR / Class A : Olfactory receptors"	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.157C>A	11.37:g.123676901G>T	ENSP00000311038:p.Leu53Met		B2RNK0|Q6IEW9|Q96R37	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L53M	ENST00000309154.2	37	c.157	CCDS31696.1	11	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453738	0.43531	.	.	ENSG00000196099	ENST00000309154	T	0.14391	2.51	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29699	U	0.011432	T	0.47544	0.1451	H	0.95365	3.66	0.35018	D	0.757585	D	0.89917	1.0	D	0.79108	0.992	T	0.71391	-0.4607	10	0.72032	D	0.01	.	12.6336	0.56671	0.0:0.0:1.0:0.0	.	53	Q8NGM8	OR6M1_HUMAN	M	53	ENSP00000311038:L53M	ENSP00000311038:L53M	L	-	1	2	OR6M1	123182111	1.000000	0.71417	0.061000	0.19648	0.350000	0.29205	4.019000	0.57181	1.787000	0.52448	0.637000	0.83480	CTG	OR6M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196099		0.428	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6M1	HGNC	protein_coding	OTTHUMT00000387437.1	-	0	83	0	G	NM_001005325		123676901	-1	tier1	-	no_errors	ENST00000309154	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.990	T	T	123676901	G	T	123676901	3	4	72	1	0	0	0	0	1	0	0	0	11244	991	35	3	787	3	OR6M1	11	123676901	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	4470176	123676901	11329615	86	19397											
OR8B4	283162	genome.wustl.edu	37	chr11	124294671	124294671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgaacacatagatccCtaagaatagaaggaaaagag	20	5	9	7	0	0	5	0	1	0	4	1	6	1	6	1	1	1	0	1	1	8	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr11:124294671C>A	ENST00000356130.3	-	1	118	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACATAGATCCCTAAGAATAGA	0.453																																																	0													61	60	60					11																	124294671		2201	4299	6500	SO:0001583	missense	0			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"GPCR / Class A : Olfactory receptors"	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.97G>T	11.37:g.124294671C>A	ENSP00000348449:p.Gly33Trp		B2RNF8|Q6IFQ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G33W	ENST00000356130.3	37	c.97	CCDS31710.1	11	.	.	.	.	.	.	.	.	.	.	c	9.721	1.159565	0.21454	.	.	ENSG00000198657	ENST00000356130	T	0.00446	7.39	4.06	3.1	0.35709	.	0.242372	0.28841	N	0.013974	T	0.00496	0.0016	L	0.56124	1.755	0.09310	N	1	D	0.55172	0.97	P	0.54965	0.765	T	0.52845	-0.8521	10	0.41790	T	0.15	.	4.0815	0.09929	0.1674:0.5804:0.1624:0.0898	.	33	Q96RC9	OR8B4_HUMAN	W	33	ENSP00000348449:G33W	ENSP00000348449:G33W	G	-	1	0	OR8B4	123799881	0.000000	0.05858	0.981000	0.43875	0.226000	0.24999	-2.237000	0.01200	1.238000	0.43771	0.655000	0.94253	GGG	OR8B4	-	prints_GPCR_Rhodpsn	ENSG00000198657		0.453	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B4	HGNC	protein_coding	OTTHUMT00000387055.1		0	26	0	C	NM_001005196		124294671	-1			no_errors	ENST00000356130	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.059	A	A	124294671	C	A	124294671	3	1	72	1	0	0	0	0	1	0	0	0	11268	681	24	3	834	3	OR8B4	11	124294671	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	617770	124294671	10711845	87	19398											
KDM5A	5927	genome.wustl.edu	37	chr12	404795	404795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtggcctgcaaaatccGccatatgtgttgagtctcgt	7	13	12	9	2	1	1	0	1	1	0	3	1	2	1	3	1	1	2	3	1	3	2	rs375955542		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr12:404795G>A	ENST00000399788.2	-	26	4761	c.4399C>T	c.(4399-4401)Cgg>Tgg	p.R1467W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R1467W|KDM5A_ENST00000540838.1_5'Flank	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1467					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGCAAAATCCGCCATATGTGT	0.438			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0								G	TRP/ARG	0,3850		0,0,1925	193	186	188		4399	2.3	1	12		188	1,8269		0,1,4134	no	missense	KDM5A	NM_001042603.1	101	0,1,6059	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	1467/1691	404795	1,12119	1925	4135	6060	SO:0001583	missense	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4399C>T	12.37:g.404795G>A	ENSP00000382688:p.Arg1467Trp		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R1467W	ENST00000399788.2	37	c.4399	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935671	0.73442	0.0	1.21E-4	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.89617	-2.54;-2.46	5.42	2.27	0.28462	.	0.000000	0.85682	D	0.000000	D	0.92964	0.7761	M	0.67397	2.05	0.48135	D	0.999599	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.93173	0.6568	10	0.87932	D	0	-14.7528	14.2157	0.65792	0.0:0.0:0.4989:0.5011	.	1467;1467	P29375;P29375-2	KDM5A_HUMAN;.	W	1467	ENSP00000382688:R1467W;ENSP00000372265:R1467W	ENSP00000372265:R1467W	R	-	1	2	KDM5A	275056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	0.693000	0.31634	0.561000	0.74099	CGG	KDM5A	-	NULL	ENSG00000073614		0.438	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1		0	83	0	G	NM_005056		404795	-1			no_errors	ENST00000399788	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	A	A	404795	G	A	404795	3	1	72	1	0	0	0	0	1	0	0	0	8160	1086	38	1	685	1	KDM5A	12	404795	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		404795	133447100	88	19399											
DERA	51071	genome.wustl.edu	37	chr12	16109898	16109898	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatctccaaaatacaagtGaatcacccggcagttctgag	13	9	9	10	1	3	2	1	2	2	0	4	3	3	3	2	2	1	2	2	2	5	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr12:16109898G>C	ENST00000428559.2	+	2	272	c.60G>C	c.(58-60)gtG>gtC	p.V20V	DERA_ENST00000532964.1_Silent_p.V20V|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	20					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				AAATACAAGTGAATCACCCGG	0.433																																																	0													72	71	71					12																	16109898		1863	4092	5955	SO:0001819	synonymous_variant	0			AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.60G>C	12.37:g.16109898G>C			Q53HN9|Q6PHW2	Silent	SNP	pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC	p.V20	ENST00000428559.2	37	c.60	CCDS44838.1	12																																																																																			DERA	-	NULL	ENSG00000023697		0.433	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERA	HGNC	protein_coding	OTTHUMT00000384731.1	-	0	62	0	G	NM_015954		16109898	1	tier1	-	no_errors	ENST00000428559	ensembl	human	known	74_37	silent	11.11	32	4	SNP	1.000	C	C	16109898	G	C	16109898	2	2	72	1	0	0	0	0	0	0	0	1	4459	1277	45	5		5	DERA	12	16109898	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	15705103	16109898	117741997	89	19400											
LYZ	4069	genome.wustl.edu	37	chr12	69746033	69746033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacatcgctgatgctgtagCttgtgcaaagagggttgtcc	9	12	12	8	1	0	2	0	1	0	1	2	2	1	2	1	1	4	6	1	1	3	4	rs139882444		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr12:69746033C>T	ENST00000261267.2	+	3	403	c.335C>T	c.(334-336)gCt>gTt	p.A112V	RP11-1143G9.4_ENST00000548900.1_RNA|LYZ_ENST00000549690.1_Intron	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	112					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	GATGCTGTAGCTTGTGCAAAG	0.353																																																	0													124	111	115					12																	69746033		2203	4300	6503	SO:0001583	missense	0			X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"renal amyloidosis"	153450	"lysozyme (renal amyloidosis)"			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	ENST00000261267.2:c.335C>T	12.37:g.69746033C>T	ENSP00000261267:p.Ala112Val		P00695|Q13170|Q9UCF8	Missense_Mutation	SNP	pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22	p.A112V	ENST00000261267.2	37	c.335	CCDS8989.1	12	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580976	0.28180	.	.	ENSG00000090382	ENST00000261267	T	0.69926	-0.44	5.95	-4.77	0.03219	Lysozyme-like domain (1);Glycoside hydrolase, family 22, conserved site (1);	2.333380	0.01241	N	0.008600	T	0.56156	0.1966	L	0.56124	1.755	0.24750	N	0.992987	B	0.15141	0.012	B	0.18263	0.021	T	0.27226	-1.0080	9	.	.	.	.	3.2279	0.06739	0.4929:0.201:0.1832:0.123	.	112	P61626	LYSC_HUMAN	V	112	ENSP00000261267:A112V	.	A	+	2	0	LYZ	68032300	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-4.624000	0.00207	-0.396000	0.07703	-0.169000	0.13324	GCT	LYZ	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22	ENSG00000090382		0.353	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZ	HGNC	protein_coding	OTTHUMT00000403624.2	-	0	77	0	C	NM_000239		69746033	1	tier1	-	no_errors	ENST00000261267	ensembl	human	known	74_37	missense	7.25	64	5	SNP	0.000	T	T	69746033	C	T	69746033	3	4	72	1	0	0	0	0	1	0	0	0	9166	797	28	3	345	3	LYZ	12	69746033	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	53636135	69746033	64105862	90	19401											
STAB2	55576	genome.wustl.edu	37	chr12	104102305	104102305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggcgaggagtgcatTgtgacaatggtaagagtgag	10	10	17	4	1	0	3	0	2	0	1	0	5	0	4	0	4	1	3	0	4	2	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr12:104102305T>G	ENST00000388887.2	+	39	4483	c.4279T>G	c.(4279-4281)Tgt>Ggt	p.C1427G		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGAGTGCATTGTGACAATGG	0.438																																																	0													206	187	193					12																	104102305		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"hyaluronic acid receptor for endocytosis"	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4279T>G	12.37:g.104102305T>G	ENSP00000373539:p.Cys1427Gly			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1427G	ENST00000388887.2	37	c.4279	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088015	0.76642	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.87650	-2.28	5.4	5.4	0.78164	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.105637	0.64402	D	0.000004	D	0.96106	0.8731	H	0.98089	4.145	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97684	1.0174	10	0.72032	D	0.01	.	15.7275	0.77774	0.0:0.0:0.0:1.0	.	1427	Q8WWQ8	STAB2_HUMAN	G	1427;114	ENSP00000373539:C1427G	ENSP00000258495:C114G	C	+	1	0	STAB2	102626435	1.000000	0.71417	0.696000	0.30242	0.070000	0.16714	6.963000	0.76055	2.164000	0.68074	0.533000	0.62120	TGT	STAB2	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000136011		0.438	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0	91	0	T			104102305	1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	5.62	84	5	SNP	0.998	G	G	104102305	T	G	104102305	3	3	72	1	0	0	0	0	1	0	0	0	15285	1812	63	4	4433	4	STAB2	12	104102305	Missense_Mutation	SNP	T	TCGA-L5-A88T-01A-11D-A351-09	34356272	104102305	29749590	91	19402											
RFC3	5983	genome.wustl.edu	37	chr13	34405463	34405463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgagggagactgcaaatGctattgtcagtcagcaaact	13	10	10	8	0	3	2	2	1	1	1	3	3	3	2	0	1	4	3	0	1	3	2	rs137956836		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr13:34405463G>T	ENST00000380071.3	+	7	911	c.781G>T	c.(781-783)Gct>Tct	p.A261S	RNU5A-4P_ENST00000516588.1_RNA|RFC3_ENST00000434425.1_Missense_Mutation_p.A261S	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	261					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GACTGCAAATGCTATTGTCAG	0.363																																																	0													113	108	109					13																	34405463		2203	4300	6503	SO:0001583	missense	0				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.781G>T	13.37:g.34405463G>T	ENSP00000369411:p.Ala261Ser		C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.A261S	ENST00000380071.3	37	c.781	CCDS9352.1	13	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546638	0.45383	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.40225	1.04;1.04	5.93	5.93	0.95920	DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);DNA polymerase III, clamp-loader complex, subunit E, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31071	0.0785	N	0.20483	0.58	0.80722	D	1	B;B;B	0.32781	0.384;0.271;0.173	B;B;B	0.33121	0.124;0.158;0.158	T	0.07309	-1.0779	10	0.12430	T	0.62	-18.485	19.3303	0.94283	0.0:0.0:1.0:0.0	.	261;261;261	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	S	261	ENSP00000369411:A261S;ENSP00000401001:A261S	ENSP00000369411:A261S	A	+	1	0	RFC3	33303463	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.194000	0.94962	2.810000	0.96702	0.655000	0.94253	GCT	RFC3	-	superfamily_DNA_pol3_clamp-load_cplx_C	ENSG00000133119		0.363	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	HGNC	protein_coding	OTTHUMT00000044450.2	-	0	52	0	G	NM_002915		34405463	1	tier1	-	no_errors	ENST00000380071	ensembl	human	known	74_37	missense	7.81	59	5	SNP	1.000	T	T	34405463	G	T	34405463	3	4	72	1	0	0	0	0	1	0	0	0	13291	1319	46	3	807	3	RFC3	13	34405463	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		34405463	80764415	92	19403											
NAA16	79612	genome.wustl.edu	37	chr13	41932982	41932982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaagctgcaaagtggatgGatgaagcacagtctttggac	14	8	13	6	0	1	2	0	1	1	1	1	5	1	5	0	3	3	3	0	3	4	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr13:41932982G>T	ENST00000379406.3	+	12	1618	c.1294G>T	c.(1294-1296)Gat>Tat	p.D432Y	NAA16_ENST00000379367.3_Missense_Mutation_p.D432Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	432					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AAAGTGGATGGATGAAGCACA	0.333																																																	0													87	91	90					13																	41932982		2203	4300	6503	SO:0001583	missense	0			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"N(alpha)-acetyltransferase subunits", "Tetratricopeptide (TTC) repeat domain containing"	26164	protein-coding gene	gene with protein product			"NMDA receptor regulated 1-like"	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1294G>T	13.37:g.41932982G>T	ENSP00000368716:p.Asp432Tyr		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D432Y	ENST00000379406.3	37	c.1294	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327051	0.81690	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	T;T	0.50001	0.76;0.76	4.91	4.91	0.64330	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	T	0.74596	0.3737	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81050	-0.1108	10	0.87932	D	0	-18.5236	18.0833	0.89449	0.0:0.0:1.0:0.0	.	432	Q6N069	NAA16_HUMAN	Y	432	ENSP00000368674:D432Y;ENSP00000368716:D432Y	ENSP00000368674:D432Y	D	+	1	0	NAA16	40830982	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.171000	0.94802	2.262000	0.75019	0.561000	0.74099	GAT	NAA16	-	smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom	ENSG00000172766		0.333	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	-	0	71	0	G	NM_018527		41932982	1	tier1	-	no_errors	ENST00000379406	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	41932982	G	T	41932982	3	4	72	1	0	0	0	0	1	0	0	0	10157	1174	41	3	1373	3	NAA16	13	41932982	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	7527519	41932982	73236896	93	19404											
THSD1	55901	genome.wustl.edu	37	chr13	52960252	52960252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtgagacacactcggCgacgctctctgacaccatcc	11	6	10	14	3	1	2	0	2	1	1	4	5	2	3	2	2	0	1	2	2	1	0	rs142793367	byFrequency	TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr13:52960252C>T	ENST00000258613.4	-	4	1269	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	364	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACACACTCGGCGACGCTCTCT	0.542																																																	0								C	HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	190	177	181		1091,	2.8	1	13	dbSNP_134	181	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	THSD1	NM_018676.3,NM_199263.2	29,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,	364/853,	52960252	2,13004	2203	4300	6503	SO:0001583	missense	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1091G>A	13.37:g.52960252C>T	ENSP00000258613:p.Arg364His		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R364H	ENST00000258613.4	37	c.1091	CCDS9432.1	13	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311991	0.23821	2.27E-4	1.16E-4	ENSG00000136114	ENST00000258613;ENST00000378095	T	0.53423	0.62	4.91	2.79	0.32731	.	0.335919	0.28606	N	0.014745	T	0.19886	0.0478	N	0.04880	-0.145	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.04229	-1.0967	10	0.15952	T	0.53	-14.9007	3.8561	0.08976	0.3199:0.4678:0.0:0.2123	.	364	Q9NS62	THSD1_HUMAN	H	364	ENSP00000258613:R364H	ENSP00000258613:R364H	R	-	2	0	THSD1	51858253	0.782000	0.28689	0.997000	0.53966	0.995000	0.86356	0.026000	0.13599	0.920000	0.36970	0.563000	0.77884	CGC	THSD1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000136114		0.542	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	-	0	41	0	C			52960252	-1	tier1	rs142793367	no_errors	ENST00000258613	ensembl	human	known	74_37	missense	15.09	45	8	SNP	0.984	T	T	52960252	C	T	52960252	3	4	72	1	0	0	0	0	1	0	0	0	15924	768	27	1	1475	1	THSD1	13	52960252	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	11027270	52960252	62209626	94	19405											
LECT1	11061	genome.wustl.edu	37	chr13	53277879	53277879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgtagctccgcctacAttctatacaacagattcctt	9	13	8	11	1	1	1	0	0	1	1	3	1	3	1	3	1	4	2	3	1	5	7	rs370148794		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr13:53277879A>G	ENST00000377962.3	-	7	934	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R	LECT1_ENST00000448904.2_Missense_Mutation_p.C285R			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	286					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCCGCCTACATTCTATACAA	0.473																																																	0								A	ARG/CYS,ARG/CYS	0,4406		0,0,2203	91	88	89		853,856	4.2	0.8	13		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LECT1	NM_001011705.1,NM_007015.2	180,180	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	285/334,286/335	53277879	1,13005	2203	4300	6503	SO:0001583	missense	0			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.856T>C	13.37:g.53277879A>G	ENSP00000367198:p.Cys286Arg		Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.C286R	ENST00000377962.3	37	c.856	CCDS9437.1	13	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983359	0.74474	0.0	1.16E-4	ENSG00000136110	ENST00000448904;ENST00000377962	T;T	0.66815	-0.19;-0.23	5.45	4.25	0.50352	.	0.043057	0.85682	D	0.000000	T	0.80470	0.4629	M	0.79926	2.475	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.916	T	0.82426	-0.0463	10	0.87932	D	0	.	11.843	0.52366	0.8688:0.0:0.0:0.1312	.	285;286	O75829-2;O75829	.;LECT1_HUMAN	R	285;286	ENSP00000388576:C285R;ENSP00000367198:C286R	ENSP00000367198:C286R	C	-	1	0	LECT1	52175880	1.000000	0.71417	0.791000	0.31998	0.998000	0.95712	8.761000	0.91691	1.055000	0.40461	0.477000	0.44152	TGT	LECT1	-	NULL	ENSG00000136110		0.473	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LECT1	HGNC	protein_coding	OTTHUMT00000045110.3	-	0	54	0	A			53277879	-1	tier1	-	no_errors	ENST00000377962	ensembl	human	known	74_37	missense	17.72	65	14	SNP	1.000	G	G	53277879	A	G	53277879	3	3	72	1	0	0	0	0	1	0	0	0	8740	217	8	4	152	4	LECT1	13	53277879	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	317627	53277879	61891999	95	19406											
LECT1	11061	genome.wustl.edu	37	chr13	53298171	53298171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggtcacggcgcccacCtcaggaatacgagccttcac	8	9	10	14	3	3	0	3	0	0	0	3	2	3	1	3	3	2	1	3	3	2	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr13:53298171C>T	ENST00000377962.3	-	4	507	c.429G>A	c.(427-429)gaG>gaA	p.E143E	LECT1_ENST00000448904.2_Silent_p.E143E			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	143	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CGGCGCCCACCTCAGGAATAC	0.483																																																	0													158	117	131					13																	53298171		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"BRICHOS domain containing"	17005	protein-coding gene	gene with protein product	"BRICHOS domain containing 3"	605147	"multiple myeloma tumor suppressor 1"	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.429G>A	13.37:g.53298171C>T			Q5TAM4|Q8TAY6|Q9UM18	Silent	SNP	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	p.E143	ENST00000377962.3	37	c.429	CCDS9437.1	13																																																																																			LECT1	-	pfam_BRICHOS_dom,pfscan_BRICHOS_dom	ENSG00000136110		0.483	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LECT1	HGNC	protein_coding	OTTHUMT00000045110.3	-	0	42	0	C			53298171	-1	tier1	-	no_errors	ENST00000377962	ensembl	human	known	74_37	silent	16.18	57	11	SNP	0.993	T	T	53298171	C	T	53298171	2	4	72	1	0	0	0	0	0	0	0	1	8740	680	24	3		3	LECT1	13	53298171	Silent	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	20292	53298171	61871707	96	19407											
KLF12	11278	genome.wustl.edu	37	chr13	74518163	74518163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgactctgactgccggCatcccatcaagcattaacat	10	12	7	12	1	2	2	1	2	1	0	3	2	3	2	2	1	3	3	2	1	2	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr13:74518163C>A	ENST00000377669.2	-	2	104	c.78G>T	c.(76-78)atG>atT	p.M26I	KLF12_ENST00000377666.4_Missense_Mutation_p.M26I|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	26					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGACTGCCGGCATCCCATCAA	0.433																																																	0													136	120	125					13																	74518163		2203	4300	6503	SO:0001583	missense	0			AJ243274	CCDS9449.1	13q22	2013-01-08			ENSG00000118922	ENSG00000118922		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6346	protein-coding gene	gene with protein product	"KLF12 zinc finger transcriptional repressor", "AP-2rep transcription factor", "AP-2 repressor"	607531				10704285	Standard	NM_007249		Approved	AP-2rep, HSPC122, AP2REP	uc001vjf.3	Q9Y4X4	OTTHUMG00000017078	ENST00000377669.2:c.78G>T	13.37:g.74518163C>A	ENSP00000366897:p.Met26Ile		A8K5T2|L0R3J4|Q5VZM7|Q9UHZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M26I	ENST00000377669.2	37	c.78	CCDS9449.1	13	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427408	0.62733	.	.	ENSG00000118922	ENST00000377669;ENST00000342812;ENST00000377666	T;T	0.01446	4.88;4.88	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.03915	0.0110	L	0.34521	1.04	0.54753	D	0.999988	B	0.30211	0.273	B	0.42214	0.38	T	0.56798	-0.7919	10	0.59425	D	0.04	.	18.2409	0.89967	0.0:1.0:0.0:0.0	.	26	Q9Y4X4	KLF12_HUMAN	I	26	ENSP00000366897:M26I;ENSP00000366894:M26I	ENSP00000344057:M26I	M	-	3	0	KLF12	73416164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.734000	0.74801	2.623000	0.88846	0.563000	0.77884	ATG	KLF12	-	NULL	ENSG00000118922		0.433	KLF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF12	HGNC	protein_coding	OTTHUMT00000045271.2	-	0	60	0	C	NM_007249		74518163	-1	tier1	-	no_errors	ENST00000377666	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	74518163	C	A	74518163	3	1	72	1	0	0	0	0	1	0	0	0	8367	710	25	3	1154	3	KLF12	13	74518163	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	21219992	74518163	40651715	97	19408											
DCT	1638	genome.wustl.edu	37	chr13	95118847	95118847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacacaacaaatggtaccGgtgccaggtaacaaatgcag	16	5	10	10	1	0	1	0	0	0	1	0	1	0	1	2	3	5	3	2	3	5	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr13:95118847G>A	ENST00000377028.5	-	3	1074	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	DCT_ENST00000446125.1_Missense_Mutation_p.R221W|AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	221					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAATGGTACCGGTGCCAGGTA	0.383																																																	0													65	67	66					13																	95118847		2203	4300	6503	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.661C>T	13.37:g.95118847G>A	ENSP00000366227:p.Arg221Trp		Q09GT4	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.R221W	ENST00000377028.5	37	c.661	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459048	0.63401	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99930	-8.15;-8.15	5.64	1.23	0.21249	Tyrosinase (3);Uncharacterised domain, di-copper centre (2);	0.045100	0.85682	D	0.000000	D	0.99937	0.9972	H	0.96365	3.81	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96383	0.9283	10	0.87932	D	0	-24.1295	16.4493	0.83974	0.0:0.0:0.4685:0.5315	.	221;221	Q09GT4;P40126	.;TYRP2_HUMAN	W	221	ENSP00000366227:R221W;ENSP00000392762:R221W	ENSP00000366227:R221W	R	-	1	2	DCT	93916848	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	0.464000	0.21988	0.016000	0.14998	-1.367000	0.01198	CGG	DCT	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	ENSG00000080166		0.383	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	-	0	78	0	G			95118847	-1	tier1	-	no_errors	ENST00000446125	ensembl	human	known	74_37	missense	5.43	86	5	SNP	0.992	A	A	95118847	G	A	95118847	3	1	72	1	0	0	0	0	1	0	0	0	4313	1115	39	1	1029	1	DCT	13	95118847	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	20600684	95118847	20051031	98	19409											
MMP14	4323	genome.wustl.edu	37	chr14	23313594	23313594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccaggagcgctggttctgGcgggtgaggaataaccaagt	9	9	15	8	2	1	1	0	1	1	0	2	3	2	3	2	5	2	2	2	5	3	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr14:23313594G>T	ENST00000311852.6	+	7	1287	c.1026G>T	c.(1024-1026)tgG>tgT	p.W342C	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	342					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	GCTGGTTCTGGCGGGTGAGGA	0.572																																																	0													151	156	155					14																	23313594		2203	4300	6503	SO:0001583	missense	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1026G>T	14.37:g.23313594G>T	ENSP00000308208:p.Trp342Cys		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.W342C	ENST00000311852.6	37	c.1026	CCDS9577.1	14	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348177	0.82132	.	.	ENSG00000157227	ENST00000311852	T	0.09630	2.96	6.06	6.06	0.98353	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.51991	0.1707	H	0.97465	4.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68096	-0.5499	10	0.87932	D	0	.	19.3958	0.94607	0.0:0.0:1.0:0.0	.	342	P50281	MMP14_HUMAN	C	342	ENSP00000308208:W342C	ENSP00000308208:W342C	W	+	3	0	MMP14	22383434	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.860000	0.99555	2.879000	0.98667	0.650000	0.86243	TGG	MMP14	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000157227		0.572	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	-	0	54	0	G	NM_004995		23313594	1	tier1	-	no_errors	ENST00000311852	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	23313594	G	T	23313594	3	4	72	1	0	0	0	0	1	0	0	0	9691	1212	42	3	1052	3	MMP14	14	23313594	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		23313594	84035946	99	19410											
LTBP2	4053	genome.wustl.edu	37	chr14	75022360	75022360	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggacaaccccacgtgctgCtgggaagggtgggtctggct	6	7	17	11	2	1	0	0	0	1	0	1	2	1	2	2	5	3	3	2	5	2	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr14:75022360C>T	ENST00000261978.4	-	4	1253	c.867G>A	c.(865-867)caG>caA	p.Q289Q	LTBP2_ENST00000556690.1_Silent_p.Q289Q|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	289					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CCACGTGCTGCTGGGAAGGGT	0.662																																																	0													53	56	55					14																	75022360		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.867G>A	14.37:g.75022360C>T			Q99907|Q9NS51	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q289	ENST00000261978.4	37	c.867	CCDS9831.1	14																																																																																			LTBP2	-	NULL	ENSG00000119681		0.662	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1		0	34	0	C	NM_000428		75022360	-1			no_errors	ENST00000261978	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T	T	75022360	C	T	75022360	2	4	72	1	0	0	0	0	0	0	0	1	9109	796	28	3		3	LTBP2	14	75022360	Silent	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	51708766	75022360	32327180	100	19411											
C15orf2	23742	genome.wustl.edu	37	chr15	24921051	24921051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatttagacccgggtgcCgccgccggcccctgccaggg	6	6	14	15	4	0	1	0	0	0	1	0	1	0	1	7	3	2	1	7	3	3	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr15:24921051C>A	ENST00000329468.2	+	1	511	c.37C>A	c.(37-39)Cgc>Agc	p.R13S		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	13					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACCCGGGTGCCGCCGCCGGCC	0.667																																																	0													5	7	6					15																	24921051		2010	4047	6057	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.37C>A	15.37:g.24921051C>A	ENSP00000333735:p.Arg13Ser			Missense_Mutation	SNP	NULL	p.R13S	ENST00000329468.2	37	c.37	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	13.25	2.180111	0.38511	.	.	ENSG00000185823	ENST00000329468	T	0.12774	2.65	1.88	-1.29	0.09288	.	.	.	.	.	T	0.06872	0.0175	L	0.29908	0.895	0.09310	N	1	D	0.56287	0.975	B	0.36719	0.231	T	0.33292	-0.9874	9	0.33141	T	0.24	.	5.0254	0.14381	0.0:0.521:0.0:0.479	.	13	Q9NZP6	CO002_HUMAN	S	13	ENSP00000333735:R13S	ENSP00000333735:R13S	R	+	1	0	C15orf2	22472144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.620000	0.05565	-0.322000	0.08615	0.491000	0.48974	CGC	NPAP1	-	NULL	ENSG00000185823		0.667	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1		0	68	0	C	NM_018958		24921051	1			no_errors	ENST00000329468	ensembl	human	known	74_37	missense	8.16	44	4	SNP	0.000	A	A	24921051	C	A	24921051	3	1	72	1	0	0	0	0	1	0	0	0	1789	652	23	2	39	2	C15orf2	15	24921051	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09		24921051	77610341	101	19412											
UBR1	197131	genome.wustl.edu	37	chr15	43244495	43244495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaggaaaatgcagactcCggctccacagtgaagtgcgt	11	9	11	10	2	0	2	0	1	0	1	2	3	2	3	2	2	2	2	2	2	4	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr15:43244495C>T	ENST00000290650.4	-	45	5065	c.4987G>A	c.(4987-4989)Gga>Aga	p.G1663R	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1663					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATGCAGACTCCGGCTCCACAG	0.473																																																	0													115	121	119					15																	43244495		2203	4299	6502	SO:0001583	missense	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4987G>A	15.37:g.43244495C>T	ENSP00000290650:p.Gly1663Arg		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.G1663R	ENST00000290650.4	37	c.4987	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701465	0.88924	.	.	ENSG00000159459	ENST00000290650	T	0.56941	0.43	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.78181	0.4243	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83357	0.0000	10	0.66056	D	0.02	-13.9513	17.8752	0.88823	0.0:1.0:0.0:0.0	.	1663	Q8IWV7	UBR1_HUMAN	R	1663	ENSP00000290650:G1663R	ENSP00000290650:G1663R	G	-	1	0	UBR1	41031787	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.647000	0.83462	2.432000	0.82394	0.467000	0.42956	GGA	UBR1	-	NULL	ENSG00000159459		0.473	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0	34	0	C	NM_174916		43244495	-1			no_errors	ENST00000290650	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	43244495	C	T	43244495	3	4	72	1	0	0	0	0	1	0	0	0	16950	661	23	1	274	1	UBR1	15	43244495	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	18323444	43244495	59286897	102	19413											
HDDC3	374659	genome.wustl.edu	37	chr15	91475176	91475176	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggagcagggccgccTggggacaagttcccactcag	8	7	14	12	1	2	0	2	0	0	0	3	2	3	2	3	4	1	2	3	4	1	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr15:91475176T>C	ENST00000394272.3	-	3	197		c.e3-2		AC068831.3_ENST00000448987.1_RNA|HDDC3_ENST00000330334.3_Splice_Site|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000559898.1_Splice_Site|AC068831.3_ENST00000438890.1_RNA			Q8N4P3	MESH1_HUMAN	HD domain containing 3								guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity (GO:0008893)|metal ion binding (GO:0046872)			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGGGCCGCCTGGGGACAAGT	0.627											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													64	61	62					15																	91475176		2198	4298	6496	SO:0001630	splice_region_variant	0			AK057584	CCDS10366.1, CCDS66866.1	15q26.1	2005-08-22			ENSG00000184508	ENSG00000184508			30522	protein-coding gene	gene with protein product						12477932	Standard	NM_001286451		Approved	MGC45386	uc002bqe.4	Q8N4P3	OTTHUMG00000141260	ENST00000394272.3:c.169-2A>G	15.37:g.91475176T>C		1282		Splice_Site	SNP	-	e3-2	ENST00000394272.3	37	c.169-2		15	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467007	0.63625	.	.	ENSG00000184508	ENST00000394272;ENST00000330334	.	.	.	4.66	4.66	0.58398	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1147	0.59294	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HDDC3	89276180	1.000000	0.71417	0.964000	0.40570	0.750000	0.42670	7.088000	0.76901	1.957000	0.56846	0.454000	0.30748	.	HDDC3	-	-	ENSG00000184508		0.627	HDDC3-002	KNOWN	basic|appris_principal	protein_coding	HDDC3	HGNC	protein_coding	OTTHUMT00000280403.2	-	0	73	0	T	NM_198527	Intron	91475176	-1	tier1	-	no_errors	ENST00000394272	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	1.000	C	C	91475176	T	C	91475176	5	2	72	1	0	0	0	0	0	0	1	0	7044	1594	55	4	263	4	HDDC3	15	91475176	Splice_Site	SNP	T	TCGA-L5-A88T-01A-11D-A351-09	48230681	91475176	11056216	103	19414											
DNAH3	55567	genome.wustl.edu	37	chr16	21136659	21136659	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccagtgctccttccgtGaggtaaaaagctgggcgcag	10	8	13	10	2	0	1	0	1	0	0	3	2	3	1	3	2	2	4	3	2	4	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr16:21136659G>T	ENST00000261383.3	-	9	1240	c.1241C>A	c.(1240-1242)tCa>tAa	p.S414*	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Nonsense_Mutation_p.S414*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	414	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCCTTCCGTGAGGTAAAAAG	0.512																																																	0													77	80	79					16																	21136659		2201	4300	6501	SO:0001587	stop_gained	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1241C>A	16.37:g.21136659G>T	ENSP00000261383:p.Ser414*		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.S414*	ENST00000261383.3	37	c.1241	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782302	0.70222	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	.	.	.	5.75	5.75	0.90469	.	1.430510	0.04347	N	0.354976	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.2536	0.66035	0.0:0.0:0.8504:0.1496	.	.	.	.	X	414;414;385	.	ENSP00000261383:S414X	S	-	2	0	DNAH3	21044160	0.884000	0.30299	0.011000	0.14972	0.163000	0.22366	5.593000	0.67550	2.725000	0.93324	0.655000	0.94253	TCA	DNAH3	-	NULL	ENSG00000158486		0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	61	0	G	NM_017539		21136659	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.037	T	T	21136659	G	T	21136659	4	4	72	1	0	0	0	0	0	1	0	0	4617	1294	45	3	11324	3	DNAH3	16	21136659	Nonsense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		21136659	69218094	104	19415											
CHD9	80205	genome.wustl.edu	37	chr16	53279275	53279275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgcttttgactggcaccCctctccaaaatacagttgaa	11	11	8	11	0	1	2	0	2	1	0	2	2	1	2	3	2	2	3	3	2	4	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr16:53279275C>T	ENST00000398510.3	+	13	3169	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S	CHD9_ENST00000564845.1_Missense_Mutation_p.P1028S|CHD9_ENST00000447540.1_Missense_Mutation_p.P1028S|CHD9_ENST00000566029.1_Missense_Mutation_p.P1028S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1028	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GACTGGCACCCCTCTCCAAAA	0.358																																																	0													70	63	65					16																	53279275		1835	4090	5925	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3082C>T	16.37:g.53279275C>T	ENSP00000381522:p.Pro1028Ser		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P1028S	ENST00000398510.3	37	c.3082		16	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812443	0.90707	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.99766	-6.69;-6.69	5.22	5.22	0.72569	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000042	D	0.99900	0.9952	H	0.99347	4.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	D	0.96092	0.9062	10	0.87932	D	0	-17.5163	19.1419	0.93449	0.0:1.0:0.0:0.0	.	554;1028;1028;1028	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	1028;1028;554	ENSP00000396345:P1028S;ENSP00000381522:P1028S	ENSP00000219084:P554S	P	+	1	0	CHD9	51836776	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.767000	0.85331	2.566000	0.86566	0.655000	0.94253	CCT	CHD9	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000177200		0.358	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0	82	0	C	NM_025134		53279275	1			no_errors	ENST00000398510	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	53279275	C	T	53279275	3	4	72	1	0	0	0	0	1	0	0	0	3339	623	22	3	3132	3	CHD9	16	53279275	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	32142616	53279275	37075478	105	19416											
MON1B	22879	genome.wustl.edu	37	chr16	77228742	77228742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctgtgtgcctgccccGcttcaaccctgatggttttt	4	13	10	14	1	1	1	1	1	0	0	1	1	1	1	5	2	3	3	5	2	1	3	rs547327074		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr16:77228742G>A	ENST00000248248.3	+	4	1336	c.986G>A	c.(985-987)cGc>cAc	p.R329H	MON1B_ENST00000439557.2_Missense_Mutation_p.R220H|MON1B_ENST00000545553.1_Missense_Mutation_p.R183H|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	329										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGCCTGCCCCGCTTCAACCCT	0.637													G|||	1	0.000199681	0	0	5008	,	,		12917	0		0	False		,,,				2504	0.001																0													74	76	75					16																	77228742		2198	4300	6498	SO:0001583	missense	0			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"MON1 homolog B (yeast)"			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.986G>A	16.37:g.77228742G>A	ENSP00000248248:p.Arg329His		B4DDZ0|O94949	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	p.R329H	ENST00000248248.3	37	c.986	CCDS10925.1	16	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722416	0.68959	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.8	3.83	0.44106	.	0.055442	0.64402	D	0.000001	T	0.60728	0.2291	L	0.28192	0.835	0.80722	D	1	B;D;D;D	0.89917	0.304;0.999;0.999;1.0	B;D;D;D	0.71656	0.068;0.974;0.974;0.959	T	0.60424	-0.7266	9	0.42905	T	0.14	.	11.2741	0.49157	0.0923:0.0:0.9077:0.0	.	183;220;209;329	B4DDZ0;E7EW32;Q6ZR87;Q7L1V2	.;.;.;MON1B_HUMAN	H	329;220;183	.	ENSP00000248248:R329H	R	+	2	0	MON1B	75786243	0.936000	0.31750	1.000000	0.80357	0.975000	0.68041	2.190000	0.42630	1.333000	0.45449	0.561000	0.74099	CGC	MON1B	-	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	ENSG00000103111		0.637	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	HGNC	protein_coding	OTTHUMT00000269036.2		0	59	0	G	NM_014940		77228742	1			no_errors	ENST00000248248	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	77228742	G	A	77228742	3	1	72	1	0	0	0	0	1	0	0	0	9737	1087	38	1	996	1	MON1B	16	77228742	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	23949467	77228742	13126011	106	19417											
OR1A2	26189	genome.wustl.edu	37	chr17	3101038	3101038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacatcatcttctcatccGtaaccatccctaaggtgctg	9	13	6	13	1	3	1	2	1	2	0	6	1	5	1	3	1	2	2	3	1	2	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr17:3101038G>A	ENST00000381951.1	+	1	226	c.226G>A	c.(226-228)Gta>Ata	p.V76I		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	76					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V76I(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTTCTCATCCGTAACCATCCC	0.488																																																	1	Substitution - Missense(1)	endometrium(1)											220	186	198					17																	3101038		2203	4300	6503	SO:0001583	missense	0			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"GPCR / Class A : Olfactory receptors"	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.226G>A	17.37:g.3101038G>A	ENSP00000371377:p.Val76Ile		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V76I	ENST00000381951.1	37	c.226	CCDS11021.1	17	.	.	.	.	.	.	.	.	.	.	G	8.290	0.817419	0.16607	.	.	ENSG00000172150	ENST00000381951	T	0.00475	7.16	4.09	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000419	T	0.00412	0.0013	L	0.58810	1.83	0.09310	N	0.999998	D	0.54964	0.969	B	0.38264	0.269	T	0.54675	-0.8258	10	0.87932	D	0	.	8.4274	0.32737	0.196:0.0:0.804:0.0	.	76	Q9Y585	OR1A2_HUMAN	I	76	ENSP00000371377:V76I	ENSP00000371377:V76I	V	+	1	0	OR1A2	3047788	0.000000	0.05858	0.899000	0.35326	0.007000	0.05969	0.476000	0.22180	1.071000	0.40834	-0.199000	0.12753	GTA	OR1A2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172150		0.488	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1A2	HGNC	protein_coding	OTTHUMT00000207293.1	-	0	62	0	G	NM_012352		3101038	1	tier1	-	no_errors	ENST00000381951	ensembl	human	known	74_37	missense	10.00	63	7	SNP	0.523	A	A	3101038	G	A	3101038	3	1	72	1	0	0	0	0	1	0	0	0	10989	1145	40	1	228	1	OR1A2	17	3101038	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		3101038	78094172	107	19418											
USP6	9098	genome.wustl.edu	37	chr17	5066217	5066217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgattgtggggaagacaGagctttcattggaaatgcct	12	12	12	5	0	1	3	1	1	0	2	1	5	1	5	1	3	2	1	1	3	3	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr17:5066217G>A	ENST00000574788.1	+	33	5184	c.2954G>A	c.(2953-2955)aGa>aAa	p.R985K	USP6_ENST00000304328.5_Missense_Mutation_p.R668K|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.R985K			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	985	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGGGAAGACAGAGCTTTCATT	0.413			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													148	153	151					17																	5066217		2203	4300	6503	SO:0001583	missense	0			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2954G>A	17.37:g.5066217G>A	ENSP00000460380:p.Arg985Lys		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.R985K	ENST00000574788.1	37	c.2954	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	2.070	-0.413174	0.04799	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.12879	3.03;2.64	3.0	2.02	0.26589	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.176737	0.64402	N	0.000011	T	0.08268	0.0206	L	0.37750	1.13	0.38926	D	0.95783	B;B	0.15930	0.004;0.015	B;B	0.12837	0.004;0.008	T	0.23226	-1.0194	10	0.06494	T	0.89	.	7.5534	0.27810	0.136:0.0:0.864:0.0	.	668;985	P35125-2;P35125	.;UBP6_HUMAN	K	985;668	ENSP00000250066:R985K;ENSP00000305473:R668K	ENSP00000250066:R985K	R	+	2	0	USP6	5006941	0.999000	0.42202	1.000000	0.80357	0.437000	0.31866	3.086000	0.50159	0.454000	0.26884	0.194000	0.17425	AGA	USP6	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000129204		0.413	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	-	0	181	0	G	NM_004505		5066217	1	tier1	-	no_errors	ENST00000250066	ensembl	human	known	74_37	missense	7.73	167	14	SNP	1.000	A	A	5066217	G	A	5066217	3	1	72	1	0	0	0	0	1	0	0	0	17135	942	33	3	3048	3	USP6	17	5066217	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	1965179	5066217	76128993	108	19419											
DLG4	1742	genome.wustl.edu	37	chr17	7106648	7106648	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgatgctgaagccaagaCctggatggaggggaggccag	10	5	17	9	1	0	2	0	1	0	1	0	6	0	5	3	5	3	1	3	5	2	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr17:7106648C>T	ENST00000399506.2	-	7	697	c.506G>A	c.(505-507)gGt>gAt	p.G169D	DLG4_ENST00000399510.2_Splice_Site_p.G212D|DLG4_ENST00000485100.1_Splice_Site_p.G166D|DLG4_ENST00000302955.6_Splice_Site_p.G166D			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	169	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GAAGCCAAGACCTGGATGGAG	0.562																																																	0													52	52	52					17																	7106648		1994	4178	6172	SO:0001630	splice_region_variant	0			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.506-1G>A	17.37:g.7106648C>T			B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.G212D	ENST00000399506.2	37	c.635		17	.	.	.	.	.	.	.	.	.	.	c	17.34	3.365591	0.61513	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674;ENST00000451807;ENST00000447163	T;T;T;T	0.53206	0.63;0.63;0.63;1.79	4.99	4.03	0.46877	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.73337	0.3574	M	0.92026	3.265	0.80722	D	1	B;B;D;D;D	0.89917	0.327;0.372;1.0;1.0;1.0	B;B;D;D;D	0.97110	0.373;0.386;1.0;1.0;1.0	T	0.78404	-0.2217	9	0.51188	T	0.08	.	13.3412	0.60545	0.0:0.84:0.16:0.0	.	209;169;166;166;212	B9EGL1;P78352;G5E939;O14909;P78352-2	.;DLG4_HUMAN;.;.;.	D	169;166;212;212;109;212;202;199	ENSP00000382425:G169D;ENSP00000307471:G166D;ENSP00000382428:G212D;ENSP00000388122:G199D	ENSP00000293813:G212D	G	-	2	0	DLG4	7047372	1.000000	0.71417	0.992000	0.48379	0.692000	0.40212	5.785000	0.68998	1.115000	0.41800	-0.224000	0.12420	GGT	DLG4	-	pirsf_M-assoc_guanylate_kinase,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000132535		0.562	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	-	0	60	0	C	NM_001365	Missense_Mutation	7106648	-1	tier1	-	no_errors	ENST00000399510	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T	T	7106648	C	T	7106648	5	4	72	1	0	0	0	0	0	0	1	0	4571	521	18	3	1724	3	DLG4	17	7106648	Splice_Site	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	2040431	7106648	74088562	109	19420											
RUNDC1	146923	genome.wustl.edu	37	chr17	41143372	41143372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtggaatccccagcccGgaagctctcccagtccttcg	7	10	9	15	2	1	0	0	0	1	0	5	2	3	2	5	2	2	1	5	2	3	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr17:41143372G>T	ENST00000361677.1	+	5	1493	c.1481G>T	c.(1480-1482)cGg>cTg	p.R494L		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	494	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.							p.R494Q(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCCCAGCCCGGAAGCTCTCC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											69	69	69					17																	41143372		2203	4300	6503	SO:0001583	missense	0			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1481G>T	17.37:g.41143372G>T	ENSP00000354622:p.Arg494Leu		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.R494L	ENST00000361677.1	37	c.1481	CCDS11448.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.059722	0.93846	.	.	ENSG00000198863	ENST00000361677	T	0.33654	1.4	5.02	5.02	0.67125	RUN (2);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.70200	-0.4937	10	0.72032	D	0.01	-28.2317	18.5295	0.90986	0.0:0.0:1.0:0.0	.	494	Q96C34	RUND1_HUMAN	L	494	ENSP00000354622:R494L	ENSP00000354622:R494L	R	+	2	0	RUNDC1	38396898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.609000	0.74173	2.598000	0.87819	0.655000	0.94253	CGG	RUNDC1	-	pfam_Run,pfscan_Run	ENSG00000198863		0.582	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1		0	42	0	G	NM_173079		41143372	1			no_errors	ENST00000361677	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	41143372	G	T	41143372	3	4	72	1	0	0	0	0	1	0	0	0	13787	1116	39	2	1499	2	RUNDC1	17	41143372	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	34036724	41143372	40051838	110	19421											
OTOP2	92736	genome.wustl.edu	37	chr17	72929582	72929582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caacatctgcctccctttcgGcatcttctaccgcatgcacg	7	11	6	17	3	3	0	0	0	3	0	5	0	4	0	3	1	4	3	3	1	2	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr17:72929582G>A	ENST00000580223.1	+	6	1661	c.1631G>A	c.(1630-1632)gGc>gAc	p.G544D	OTOP2_ENST00000331427.4_Missense_Mutation_p.G544D|OTOP3_ENST00000328801.4_5'Flank			Q7RTS6	OTOP2_HUMAN	otopetrin 2	544						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CTCCCTTTCGGCATCTTCTAC	0.617																																																	0													133	99	111					17																	72929582		2203	4300	6503	SO:0001583	missense	0			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1631G>A	17.37:g.72929582G>A	ENSP00000463837:p.Gly544Asp			Missense_Mutation	SNP	pfam_Otopetrin	p.G544D	ENST00000580223.1	37	c.1631	CCDS11708.1	17	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982932	0.93044	.	.	ENSG00000183034	ENST00000331427	T	0.21932	1.98	4.96	4.96	0.65561	.	0.056233	0.64402	D	0.000001	T	0.45955	0.1368	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.25882	-1.0119	10	0.27785	T	0.31	-21.7749	18.1943	0.89815	0.0:0.0:1.0:0.0	.	544	Q7RTS6	OTOP2_HUMAN	D	544	ENSP00000332528:G544D	ENSP00000332528:G544D	G	+	2	0	OTOP2	70441177	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.775000	0.98995	2.452000	0.82932	0.561000	0.74099	GGC	OTOP2	-	pfam_Otopetrin	ENSG00000183034		0.617	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP2	HGNC	protein_coding	OTTHUMT00000445306.1		0	69	0	G	NM_178160		72929582	1			no_errors	ENST00000331427	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	72929582	G	A	72929582	3	1	72	1	0	0	0	0	1	0	0	0	11345	1203	42	3	1653	3	OTOP2	17	72929582	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	31786210	72929582	8265628	111	19422											
EMILIN2	84034	genome.wustl.edu	37	chr18	2890741	2890741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctccagtcttcccttGctggagtgagtgaaaatctc	8	13	9	11	0	2	3	0	3	2	0	5	4	4	4	3	1	1	1	3	1	2	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr18:2890741G>T	ENST00000254528.3	+	4	775	c.616G>T	c.(616-618)Gct>Tct	p.A206S		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	206					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GTCTTCCCTTGCTGGAGTGAG	0.527																																																	0													81	82	82					18																	2890741		2203	4300	6503	SO:0001583	missense	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"EMI domain containing"	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.616G>T	18.37:g.2890741G>T	ENSP00000254528:p.Ala206Ser		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.A206S	ENST00000254528.3	37	c.616	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	6.799	0.516415	0.12944	.	.	ENSG00000132205	ENST00000254528	T	0.36340	1.26	5.41	4.53	0.55603	.	0.155416	0.44285	N	0.000480	T	0.30262	0.0759	L	0.57536	1.79	0.26399	N	0.976451	B	0.16396	0.017	B	0.13407	0.009	T	0.27839	-1.0062	10	0.09338	T	0.73	-7.3514	10.0366	0.42133	0.0718:0.0:0.7897:0.1385	.	206	Q9BXX0	EMIL2_HUMAN	S	206	ENSP00000254528:A206S	ENSP00000254528:A206S	A	+	1	0	EMILIN2	2880741	0.973000	0.33851	0.008000	0.14137	0.984000	0.73092	2.935000	0.48963	1.243000	0.43853	0.557000	0.71058	GCT	EMILIN2	-	NULL	ENSG00000132205		0.527	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	-	0	55	0	G	NM_032048		2890741	1	tier1	-	no_errors	ENST00000254528	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.951	T	T	2890741	G	T	2890741	3	4	72	1	0	0	0	0	1	0	0	0	5110	1319	46	3	630	3	EMILIN2	18	2890741	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		2890741	75186507	112	19423											
ZNF516	9658	genome.wustl.edu	37	chr18	74153868	74153868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggcactggaggaagaaCtgcttggtgtccgagggccc	8	8	15	10	1	1	1	1	0	0	1	2	4	2	3	2	5	2	2	2	5	2	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr18:74153868C>A	ENST00000443185.2	-	3	1460	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	381					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAGGAAGAACTGCTTGGTGT	0.716																																																	0													10	12	11					18																	74153868		1996	4119	6115	SO:0001583	missense	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1143G>T	18.37:g.74153868C>A	ENSP00000394757:p.Gln381His			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q381H	ENST00000443185.2	37	c.1143		18	.	.	.	.	.	.	.	.	.	.	C	15.03	2.710866	0.48517	.	.	ENSG00000101493	ENST00000443185	T	0.09630	2.96	4.98	3.09	0.35607	.	0.405610	0.23282	N	0.049892	T	0.23370	0.0565	.	.	.	0.31547	N	0.659212	D	0.57899	0.981	P	0.57371	0.819	T	0.12268	-1.0554	9	0.40728	T	0.16	-11.331	13.3706	0.60711	0.0:0.6975:0.3025:0.0	.	381	Q92618	ZN516_HUMAN	H	381	ENSP00000394757:Q381H	ENSP00000394757:Q381H	Q	-	3	2	ZNF516	72282856	0.893000	0.30496	0.914000	0.36105	0.977000	0.68977	0.772000	0.26647	0.618000	0.30179	0.655000	0.94253	CAG	ZNF516	-	NULL	ENSG00000101493		0.716	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		-	0	36	0	C	NM_014643		74153868	-1	tier1	-	no_errors	ENST00000443185	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.927	A	A	74153868	C	A	74153868	3	1	72	1	0	0	0	0	1	0	0	0	18008	564	20	3	2369	3	ZNF516	18	74153868	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	71263127	74153868	3923380	113	19424											
ARMC6	93436	genome.wustl.edu	37	chr19	19166105	19166105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtgctgagcaccctgcGagccatcgcaggcaacgacg	10	4	13	14	4	0	1	0	1	0	0	1	3	0	1	2	1	5	5	2	1	2	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:19166105G>A	ENST00000535612.1	+	7	1487	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ARMC6_ENST00000269932.6_Missense_Mutation_p.R327Q|ARMC6_ENST00000392335.2_Missense_Mutation_p.R327Q|ARMC6_ENST00000546344.1_Missense_Mutation_p.R259Q|ARMC6_ENST00000392336.3_Missense_Mutation_p.R352Q	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	352					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AGCACCCTGCGAGCCATCGCA	0.622																																																	0													105	88	94					19																	19166105		2203	4300	6503	SO:0001583	missense	0			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"Armadillo repeat containing"	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1055G>A	19.37:g.19166105G>A	ENSP00000444156:p.Arg352Gln		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R352Q	ENST00000535612.1	37	c.1055	CCDS56089.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.360398	0.95877	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.88	4.88	0.63580	Armadillo-like helical (1);Armadillo-type fold (1);	0.067487	0.56097	D	0.000028	T	0.63943	0.2554	M	0.72894	2.215	0.58432	D	0.999996	D	0.76494	0.999	P	0.59948	0.866	T	0.63152	-0.6701	10	0.32370	T	0.25	-36.3466	17.0086	0.86400	0.0:0.0:1.0:0.0	.	352	Q6NXE6	ARMC6_HUMAN	Q	327;352;327;259;263;352	ENSP00000376147:R327Q;ENSP00000444156:R352Q;ENSP00000269932:R327Q;ENSP00000444341:R259Q;ENSP00000376148:R352Q	ENSP00000269932:R327Q	R	+	2	0	ARMC6	19027105	0.992000	0.36948	0.996000	0.52242	0.859000	0.49053	5.255000	0.65462	2.271000	0.75665	0.563000	0.77884	CGA	ARMC6	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000105676		0.622	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1		0	78	0	G	NM_033415		19166105	1			no_errors	ENST00000392336	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	19166105	G	A	19166105	3	1	72	1	0	0	0	0	1	0	0	0	956	1058	37	1	998	1	ARMC6	19	19166105	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		19166105	39962878	114	19425											
MAG	4099	genome.wustl.edu	37	chr19	35800943	35800943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgtactcggagcgcagCggcctcgtgctcaccagcat	6	9	12	14	5	1	0	1	0	0	0	4	1	1	1	2	2	5	4	2	2	1	2	rs199807515		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:35800943C>T	ENST00000392213.3	+	8	1557	c.1398C>T	c.(1396-1398)agC>agT	p.S466S	MAG_ENST00000361922.4_Silent_p.S466S|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Silent_p.S441S	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	466	Ig-like C2-type 4.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGGAGCGCAGCGGCCTCGTGC	0.677																																																	0													63	56	59					19																	35800943		2203	4300	6503	SO:0001819	synonymous_variant	0			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1398C>T	19.37:g.35800943C>T			B7Z2E5|F5GYC0|Q567S4	Silent	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S466	ENST00000392213.3	37	c.1398	CCDS12455.1	19																																																																																			MAG	-	NULL	ENSG00000105695		0.677	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	-	0	91	0	C	NM_080600		35800943	1	tier1	-	no_errors	ENST00000392213	ensembl	human	known	74_37	silent	5.32	89	5	SNP	0.420	T	T	35800943	C	T	35800943	2	4	72	1	0	0	0	0	0	0	0	1	9198	767	27	1		1	MAG	19	35800943	Silent	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	16634838	35800943	23328040	115	19426											
ETV2	2116	genome.wustl.edu	37	chr19	36134632	36134632	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaccgtgccagtttggctcGatgccccaaaactaaccacc	10	7	9	15	2	0	0	0	0	0	0	1	2	0	1	6	2	4	2	6	2	3	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:36134632G>C	ENST00000403402.1	+	4	998	c.692G>C	c.(691-693)cGa>cCa	p.R231P	ETV2_ENST00000479824.1_Missense_Mutation_p.R138P|ETV2_ENST00000402764.2_Missense_Mutation_p.R231P|ETV2_ENST00000379026.2_Missense_Mutation_p.R259P|ETV2_ENST00000379023.4_Intron			O00321	ETV2_HUMAN	ets variant 2	231					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGTTTGGCTCGATGCCCCAAA	0.652																																																	0													45	48	47					19																	36134632		2203	4300	6503	SO:0001583	missense	0			AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"ets variant gene 2"			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.692G>C	19.37:g.36134632G>C	ENSP00000385369:p.Arg231Pro		A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom	p.R231P	ENST00000403402.1	37	c.692	CCDS32995.2	19	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711671	0.68730	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000403402	T;T;T	0.13778	2.56;2.56;2.56	4.93	2.73	0.32206	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.048490	0.07533	N	0.912563	T	0.10380	0.0254	N	0.24115	0.695	0.09310	N	1	B;B;B	0.21821	0.007;0.061;0.007	B;B;B	0.17433	0.003;0.018;0.005	T	0.34825	-0.9813	10	0.40728	T	0.16	.	8.1397	0.31076	0.0:0.1727:0.6482:0.1791	.	230;259;231	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	P	259;231;231	ENSP00000368312:R259P;ENSP00000384524:R231P;ENSP00000385369:R231P	ENSP00000368312:R259P	R	+	2	0	ETV2	40826472	0.010000	0.17322	0.062000	0.19696	0.972000	0.66771	1.576000	0.36504	0.639000	0.30564	0.555000	0.69702	CGA	ETV2	-	NULL	ENSG00000105672		0.652	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ETV2	HGNC	protein_coding	OTTHUMT00000318848.2	-	0	89	0	G	XM_209182		36134632	1	tier1	-	no_errors	ENST00000402764	ensembl	human	known	74_37	missense	5.04	113	6	SNP	0.003	C	C	36134632	G	C	36134632	3	2	72	1	0	0	0	0	1	0	0	0	5294	1058	37	5	706	5	ETV2	19	36134632	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	333689	36134632	22994351	116	19427											
ZNF284	342909	genome.wustl.edu	37	chr19	44590074	44590074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggagagacaccttctgAgcatgggaagtgtaaaaaat	16	8	11	6	0	1	2	0	1	1	1	1	5	1	4	1	2	1	2	1	2	5	3			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:44590074A>G	ENST00000421176.3	+	5	659	c.443A>G	c.(442-444)gAg>gGg	p.E148G	ZNF223_ENST00000591793.1_3'UTR|RNU6-902P_ENST00000517212.1_RNA	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	148					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ACACCTTCTGAGCATGGGAAG	0.428																																																	0													66	64	64					19																	44590074		2154	4282	6436	SO:0001583	missense	0			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"Zinc fingers, C2H2-type", "-"	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.443A>G	19.37:g.44590074A>G	ENSP00000411032:p.Glu148Gly		Q86WM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E148G	ENST00000421176.3	37	c.443	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	A	9.419	1.082420	0.20309	.	.	ENSG00000186026	ENST00000421176	T	0.29917	1.55	2.15	1.02	0.19986	.	.	.	.	.	T	0.19248	0.0462	L	0.35487	1.065	0.09310	N	1	P	0.37864	0.61	B	0.32583	0.148	T	0.10314	-1.0635	9	0.51188	T	0.08	.	6.5466	0.22410	0.7855:0.0:0.0:0.2145	.	148	Q2VY69	ZN284_HUMAN	G	148	ENSP00000411032:E148G	ENSP00000411032:E148G	E	+	2	0	ZNF284	49281914	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.508000	0.22692	0.045000	0.15804	0.379000	0.24179	GAG	ZNF284	-	NULL	ENSG00000186026		0.428	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	HGNC	protein_coding	OTTHUMT00000460473.1		0	45	0	A	NM_001037813		44590074	1			no_errors	ENST00000421176	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.002	G	G	44590074	A	G	44590074	3	3	72	1	0	0	0	0	1	0	0	0	17869	304	11	4	457	4	ZNF284	19	44590074	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	8455442	44590074	14538909	117	19428											
PTGIR	5739	genome.wustl.edu	37	chr19	47124901	47124901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcactgctgctgtcaGgggcgacagcctgggtgaag	7	8	14	12	1	2	1	2	1	1	0	3	2	2	1	2	3	3	2	2	3	1	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:47124901G>T	ENST00000291294.2	-	3	930	c.797C>A	c.(796-798)cCt>cAt	p.P266H	PTGIR_ENST00000598865.1_Missense_Mutation_p.P54H|PTGIR_ENST00000597185.1_De_novo_Start_OutOfFrame|PTGIR_ENST00000594275.1_Missense_Mutation_p.P23H	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	266					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.P266R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GCTGCTGTCAGGGGCGACAGC	0.642																																																	1	Substitution - Missense(1)	urinary_tract(1)											37	33	35					19																	47124901		2163	4238	6401	SO:0001583	missense	0				CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.797C>A	19.37:g.47124901G>T	ENSP00000291294:p.Pro266His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt	p.P266H	ENST00000291294.2	37	c.797	CCDS12686.1	19	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306641	0.40795	.	.	ENSG00000160013	ENST00000291294	T	0.43688	0.94	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.148588	0.44902	D	0.000401	T	0.41627	0.1167	L	0.55990	1.75	0.19945	N	0.99994	P	0.42248	0.774	P	0.44897	0.463	T	0.34229	-0.9837	10	0.42905	T	0.14	-16.044	9.6702	0.40008	0.0:0.0:0.7924:0.2076	.	266	P43119	PI2R_HUMAN	H	266	ENSP00000291294:P266H	ENSP00000291294:P266H	P	-	2	0	PTGIR	51816741	1.000000	0.71417	0.905000	0.35620	0.359000	0.29487	5.479000	0.66813	2.252000	0.74401	0.561000	0.74099	CCT	PTGIR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt	ENSG00000160013		0.642	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIR	HGNC	protein_coding	OTTHUMT00000466581.1		0	51	0	G			47124901	-1			no_errors	ENST00000291294	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.185	T	T	47124901	G	T	47124901	3	4	72	1	0	0	0	0	1	0	0	0	12794	1000	35	3	367	3	PTGIR	19	47124901	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	2534827	47124901	12004082	118	19429											
MYH14	79784	genome.wustl.edu	37	chr19	50785036	50785036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggacgacgccaccatGgacctggagcagcagcggca	10	3	15	13	3	0	0	0	0	0	0	0	5	0	3	3	4	4	4	3	4	0	0			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:50785036G>A	ENST00000596571.1	+	30	4353	c.4353G>A	c.(4351-4353)atG>atA	p.M1451I	MYH14_ENST00000601313.1_Missense_Mutation_p.M1492I|MYH14_ENST00000440075.2_Missense_Mutation_p.M1492I|MYH14_ENST00000262269.8_Missense_Mutation_p.M1492I|MYH14_ENST00000376970.2_Missense_Mutation_p.M1484I|MYH14_ENST00000598205.1_Missense_Mutation_p.M1459I|MYH14_ENST00000425460.1_Missense_Mutation_p.M1459I			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1451					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCCACCATGGACCTGGAGC	0.667																																																	0													14	18	17					19																	50785036		2122	4223	6345	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4353G>A	19.37:g.50785036G>A	ENSP00000472819:p.Met1451Ile		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1492I	ENST00000596571.1	37	c.4476	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	12.02	1.813469	0.32053	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	T	0.57198	0.2037	N	0.00642	-1.3	0.31245	N	0.694708	B;B;B	0.14438	0.008;0.01;0.004	B;B;B	0.23018	0.025;0.043;0.025	T	0.53158	-0.8478	8	.	.	.	.	13.9772	0.64279	0.0:0.0:1.0:0.0	.	1492;1451;1459	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	I	1492;1484;1459;1492	ENSP00000406273:M1492I;ENSP00000366169:M1484I;ENSP00000407879:M1459I;ENSP00000262269:M1492I	.	M	+	3	0	MYH14	55476848	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	4.084000	0.57650	2.238000	0.73509	0.555000	0.69702	ATG	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0	83	0	G	NM_024729		50785036	1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	15.49	60	11	SNP	1.000	A	A	50785036	G	A	50785036	3	1	72	1	0	0	0	0	1	0	0	0	10071	1348	47	3	4602	3	MYH14	19	50785036	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	3660135	50785036	8343947	119	19430											
ZNF835	90485	genome.wustl.edu	37	chr19	57175168	57175168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctccccggtgtgcaCgatgtggtgctggatcaggt	4	11	16	10	2	2	0	1	0	1	0	3	2	2	1	2	5	2	3	2	5	0	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:57175168C>T	ENST00000537055.2	-	2	1630	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCGGTGTGCACGATGTGGTGC	0.667																																																	0													97	106	103					19																	57175168		2202	4300	6502	SO:0001583	missense	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"Zinc fingers, C2H2-type"	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1399G>A	19.37:g.57175168C>T	ENSP00000444747:p.Val467Met		B7Z5Y0|G3V1S0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V467M	ENST00000537055.2	37	c.1399	CCDS56105.1	19	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784153	0.49997	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.20069	2.1	2.32	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20740	0.0499	L	0.35644	1.08	0.09310	N	1	D	0.57257	0.979	P	0.53490	0.727	T	0.13548	-1.0505	9	0.72032	D	0.01	.	2.3245	0.04219	0.4193:0.2952:0.0:0.2855	.	489	Q9Y2P0	ZN835_HUMAN	M	489;467	ENSP00000444747:V467M	ENSP00000341756:V489M	V	-	1	0	ZNF835	61866980	0.000000	0.05858	0.002000	0.10522	0.664000	0.39144	-1.387000	0.02535	-0.214000	0.10078	0.561000	0.74099	GTG	ZNF835	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000127903		0.667	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF835	HGNC	protein_coding	OTTHUMT00000459800.1	-	0	53	0	C	NM_001005850		57175168	-1	tier1	-	no_errors	ENST00000537055	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.000	T	T	57175168	C	T	57175168	3	4	72	1	0	0	0	0	1	0	0	0	18234	536	19	1	216	1	ZNF835	19	57175168	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	6390132	57175168	1953815	120	19431											
ZNF551	90233	genome.wustl.edu	37	chr19	58197860	58197860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctttcaggttattgccatGgaatggagaatgaggcgata	11	12	13	5	1	1	2	1	1	0	1	1	5	1	3	1	4	2	2	1	4	4	4			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:58197860G>A	ENST00000282296.5	+	3	402	c.217G>A	c.(217-219)Gga>Aga	p.G73R	AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.G57R|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTATTGCCATGGAATGGAGAA	0.433																																																	0													84	79	80					19																	58197860		2203	4300	6503	SO:0001583	missense	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.217G>A	19.37:g.58197860G>A	ENSP00000282296:p.Gly73Arg		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G73R	ENST00000282296.5	37	c.217	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	8.467	0.856726	0.17106	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	1.03	0.20045	Krueppel-associated box (3);	.	.	.	.	T	0.21347	0.0514	L	0.29908	0.895	0.09310	N	1	P	0.39847	0.691	B	0.37833	0.259	T	0.13019	-1.0525	8	0.13470	T	0.59	.	6.636	0.22883	0.1601:0.0:0.8399:0.0	.	73	Q7Z340	ZN551_HUMAN	R	73;57	.	ENSP00000282296:G57R	G	+	1	0	ZNF551	62889672	0.004000	0.15560	0.002000	0.10522	0.006000	0.05464	0.639000	0.24690	0.437000	0.26423	0.555000	0.69702	GGA	ZNF551	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000204519		0.433	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2		0	79	0	G	NM_138347		58197860	1			no_errors	ENST00000282296	ensembl	human	known	74_37	missense	5.49	86	5	SNP	0.011	A	A	58197860	G	A	58197860	3	1	72	1	0	0	0	0	1	0	0	0	18031	1349	47	3	179	3	ZNF551	19	58197860	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	1022692	58197860	931123	121	19432											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58549469	58549469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagcagttcctgggcGcgctgcccagcaagatgcgg	6	7	16	12	3	0	1	0	0	0	1	1	2	1	2	2	3	5	5	2	3	1	1	rs148253808		TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr19:58549469G>A	ENST00000282326.1	+	3	512	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.A89T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTTCCTGGGCGCGCTGCCCAG	0.692													G|||	1	0.000199681	0	0	5008	,	,		10629	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	prostate(1)						G	THR/ALA	1,4393		0,1,2196	17	17	17		265	-1.9	0	19	dbSNP_134	17	0,8588		0,0,4294	no	missense	ZSCAN1	NM_182572.3	58	0,1,6490	AA,AG,GG		0.0,0.0228,0.0077	benign	89/409	58549469	1,12981	2197	4294	6491	SO:0001583	missense	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.265G>A	19.37:g.58549469G>A	ENSP00000282326:p.Ala89Thr		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A89T	ENST00000282326.1	37	c.265	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378188	0.61735	2.28E-4	0.0	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04360	3.64;3.64	2.08	-1.9	0.07665	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.05502	0.0145	L	0.38733	1.17	0.09310	N	1	P;P	0.52170	0.95;0.951	P;B	0.51999	0.687;0.404	T	0.32375	-0.9909	9	0.27082	T	0.32	.	1.9367	0.03338	0.3721:0.0:0.362:0.2659	.	89;89	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	T	89	ENSP00000375581:A89T;ENSP00000282326:A89T	ENSP00000282326:A89T	A	+	1	0	ZSCAN1	63241281	0.000000	0.05858	0.034000	0.17996	0.964000	0.63967	0.070000	0.14573	-0.194000	0.10399	0.393000	0.25936	GCG	ZSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000152467		0.692	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1		0	58	0	G	NM_182572		58549469	1			no_errors	ENST00000282326	ensembl	human	known	74_37	missense	10.81	66	8	SNP	0.002	A	A	58549469	G	A	58549469	3	1	72	1	0	0	0	0	1	0	0	0	18274	1087	38	1	267	1	ZSCAN1	19	58549469	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	351609	58549469	579514	122	19433											
SLC2A10	81031	genome.wustl.edu	37	chr20	45354253	45354253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtacagatgagactgCaacacacaaggacctcatcc	13	7	9	12	0	1	2	1	1	0	2	2	4	2	3	2	2	4	3	2	2	3	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr20:45354253C>T	ENST00000359271.2	+	2	828	c.578C>T	c.(577-579)gCa>gTa	p.A193V		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	193					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GATGAGACTGCAACACACAAG	0.632																																																	0													77	57	64					20																	45354253		2203	4300	6503	SO:0001583	missense	0			AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"Solute carriers"	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.578C>T	20.37:g.45354253C>T	ENSP00000352216:p.Ala193Val		A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.A193V	ENST00000359271.2	37	c.578	CCDS13402.1	20	.	.	.	.	.	.	.	.	.	.	C	4.484	0.089682	0.08632	.	.	ENSG00000197496	ENST00000359271	D	0.84070	-1.8	5.67	3.65	0.41850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.744030	0.02391	N	0.079670	T	0.77011	0.4068	L	0.49513	1.565	0.09310	N	1	P	0.38677	0.642	B	0.34991	0.193	T	0.62895	-0.6757	10	0.15952	T	0.53	1.4557	5.3744	0.16156	0.229:0.5895:0.1036:0.0779	.	193	O95528	GTR10_HUMAN	V	193	ENSP00000352216:A193V	ENSP00000352216:A193V	A	+	2	0	SLC2A10	44787660	0.000000	0.05858	0.008000	0.14137	0.016000	0.09150	0.131000	0.15870	1.553000	0.49476	0.609000	0.83330	GCA	SLC2A10	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197496		0.632	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SLC2A10	HGNC	protein_coding	OTTHUMT00000079578.2	-	0	36	0	C			45354253	1	tier1	-	no_errors	ENST00000359271	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.010	T	T	45354253	C	T	45354253	3	4	72	1	0	0	0	0	1	0	0	0	14584	710	25	3	584	3	SLC2A10	20	45354253	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09		45354253	17671267	123	19434											
GTSE1	51512	genome.wustl.edu	37	chr22	46708101	46708101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgagaaggaatcccacCgggatgttctccctgacaaa	12	7	10	12	1	1	2	0	2	1	1	3	5	2	4	3	2	1	2	3	2	3	1			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chr22:46708101C>T	ENST00000454366.1	+	5	1038	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	257					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGAATCCCACCGGGATGTTCT	0.532																																					GBM(153;542 1915 12487 29016 50495)												0													54	58	56					22																	46708101		2203	4300	6503	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.826C>T	22.37:g.46708101C>T	ENSP00000415430:p.Arg276Trp		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.R276W	ENST00000454366.1	37	c.826	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829692	0.50845	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.07800	3.16	4.75	-7.6	0.01303	.	0.577883	0.18783	N	0.131289	T	0.12433	0.0302	L	0.39898	1.24	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.02519	-1.1147	10	0.72032	D	0.01	-0.0179	10.5726	0.45209	0.1569:0.3401:0.503:0.0	.	257	Q9NYZ3	GTSE1_HUMAN	W	276;236	ENSP00000415430:R276W	ENSP00000354634:R236W	R	+	1	2	GTSE1	45086765	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.542000	0.02196	-1.773000	0.01290	-0.271000	0.10264	CGG	GTSE1	-	NULL	ENSG00000075218		0.532	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	-	0	133	0	C	NM_016426		46708101	1	tier1	-	no_errors	ENST00000454366	ensembl	human	known	74_37	missense	5.16	147	8	SNP	0.000	T	T	46708101	C	T	46708101	3	4	72	1	0	0	0	0	1	0	0	0	6912	643	23	1	840	1	GTSE1	22	46708101	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09		46708101	4596465	124	19435											
ARHGAP6	395	genome.wustl.edu	37	chrX	11682517	11682517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcggctactggctggcccGgccaggacagaaggcaggtc	7	6	15	13	2	0	1	0	0	0	1	2	2	0	2	2	7	1	3	2	7	2	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chrX:11682517G>A	ENST00000337414.4	-	1	1304	c.432C>T	c.(430-432)gcC>gcT	p.A144A	ARHGAP6_ENST00000380732.3_Silent_p.A144A|ARHGAP6_ENST00000380718.1_Silent_p.A144A	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	144					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGGCTGGCCCGGCCAGGACAG	0.617																																																	0													20	22	22					X																	11682517		2201	4300	6501	SO:0001819	synonymous_variant	0			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"Rho GTPase activating proteins"	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.432C>T	X.37:g.11682517G>A			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A144	ENST00000337414.4	37	c.432	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL	ENSG00000047648		0.617	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	-	0	90	0	G	NM_013427		11682517	-1	tier1	-	no_errors	ENST00000337414	ensembl	human	known	74_37	silent	6.02	77	5	SNP	0.031	A	A	11682517	G	A	11682517	2	1	72	1	0	0	0	0	0	0	0	1	887	1103	39	1		1	ARHGAP6	23	11682517	Silent	SNP	G	TCGA-L5-A88T-01A-11D-A351-09		11682517	143588043	125	19436											
SLC35A2	7355	genome.wustl.edu	37	chrX	48762485	48762485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcccagttgcaggttgCgcagccacacggagcctgag	9	5	15	12	2	0	2	0	1	0	1	0	3	0	3	3	3	4	4	3	3	0	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chrX:48762485C>T	ENST00000247138.5	-	4	704	c.701G>A	c.(700-702)cGc>cAc	p.R234H	SLC35A2_ENST00000452555.2_Missense_Mutation_p.R262H|SLC35A2_ENST00000413561.2_Missense_Mutation_p.R173H|SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000376521.1_Missense_Mutation_p.R234H|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000376529.3_Intron	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	234					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						TTGCAGGTTGCGCAGCCACAC	0.637																																																	0													24	18	20					X																	48762485		2201	4293	6494	SO:0001583	missense	0			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"Solute carriers"	11022	protein-coding gene	gene with protein product		314375	"solute carrier family 35 (UDP-galactose transporter), member 2"	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.701G>A	X.37:g.48762485C>T	ENSP00000247138:p.Arg234His		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.R262H	ENST00000247138.5	37	c.785	CCDS14311.1	X	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325184	0.81580	.	.	ENSG00000102100	ENST00000247138;ENST00000376521;ENST00000413561;ENST00000452555;ENST00000446885	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.86	4.99	0.66335	.	0.055859	0.64402	D	0.000003	T	0.79257	0.4415	H	0.96080	3.765	0.58432	D	0.999995	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.996;1.0;1.0;0.999;0.998	D	0.84228	0.0465	10	0.87932	D	0	-10.9149	10.3961	0.44201	0.0:0.9072:0.0:0.0928	.	173;262;247;234;234	B4DE11;E7EW45;B4DE15;P78381-2;P78381	.;.;.;.;S35A2_HUMAN	H	234;234;173;262;162	ENSP00000247138:R234H;ENSP00000365704:R234H;ENSP00000393233:R173H;ENSP00000416002:R262H;ENSP00000415518:R162H	ENSP00000247138:R234H	R	-	2	0	SLC35A2	48647429	0.939000	0.31865	1.000000	0.80357	0.982000	0.71751	4.217000	0.58547	2.447000	0.82792	0.600000	0.82982	CGC	SLC35A2	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	ENSG00000102100		0.637	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1		0	53	0	C	NM_005660		48762485	-1			no_errors	ENST00000452555	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	48762485	C	T	48762485	3	4	72	1	0	0	0	0	1	0	0	0	14616	768	27	1	653	1	SLC35A2	23	48762485	Missense_Mutation	SNP	C	TCGA-L5-A88T-01A-11D-A351-09	37079968	48762485	106508075	126	19437											
LDOC1	23641	genome.wustl.edu	37	chrX	140271053	140271053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attaaacgtttcggggaaggGcaccgggcagctcggcggac	9	6	16	10	5	0	0	0	0	0	0	2	2	0	2	1	6	2	4	1	6	3	2			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chrX:140271053G>A	ENST00000370526.2	-	1	257	c.154C>T	c.(154-156)Ccc>Tcc	p.P52S	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	52					negative regulation of cell proliferation (GO:0008285)	nucleus (GO:0005634)				endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TCGGGGAAGGGCACCGGGCAG	0.622																																																	0													38	34	35					X																	140271053		2203	4300	6503	SO:0001583	missense	0			AB019527	CCDS14672.1	Xq27	2008-02-05			ENSG00000182195	ENSG00000182195			6548	protein-coding gene	gene with protein product		300402		BCUR1		10403563, 15716091, 16093683	Standard	NM_012317		Approved	Mar7, Mart7	uc004fbj.3	O95751	OTTHUMG00000022558	ENST00000370526.2:c.154C>T	X.37:g.140271053G>A	ENSP00000359557:p.Pro52Ser		Q6IAR6	Missense_Mutation	SNP	NULL	p.P52S	ENST00000370526.2	37	c.154	CCDS14672.1	X	.	.	.	.	.	.	.	.	.	.	.	14.30	2.494352	0.44352	.	.	ENSG00000182195	ENST00000370526	T	0.34275	1.37	3.61	3.61	0.41365	.	0.122358	0.35378	N	0.003244	T	0.34308	0.0893	L	0.46157	1.445	0.26568	N	0.973607	P	0.47106	0.89	P	0.46758	0.526	T	0.11494	-1.0585	10	0.29301	T	0.29	-9.9458	9.7936	0.40722	0.0:0.0:1.0:0.0	.	52	O95751	LDOC1_HUMAN	S	52	ENSP00000359557:P52S	ENSP00000359557:P52S	P	-	1	0	LDOC1	140098719	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.066000	0.57520	2.060000	0.61445	0.287000	0.19450	CCC	LDOC1	-	NULL	ENSG00000182195		0.622	LDOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDOC1	HGNC	protein_coding	OTTHUMT00000058592.1		0	49	0	G	NM_012317		140271053	-1			no_errors	ENST00000370526	ensembl	human	known	74_37	missense	6.35	58	4	SNP	1.000	A	A	140271053	G	A	140271053	3	1	72	1	0	0	0	0	1	0	0	0	8737	1203	42	3	290	3	LDOC1	23	140271053	Missense_Mutation	SNP	G	TCGA-L5-A88T-01A-11D-A351-09	91508568	140271053	14999507	127	19438											
GABRE	2564	genome.wustl.edu	37	chrX	151130908	151130908	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatacctaattgtgtacaAcaccttgccatccttgtaga	12	12	6	11	0	0	1	0	0	0	1	1	2	1	1	4	0	4	2	4	0	5	7			TCGA-L5-A88T-01A-11D-A351-09	TCGA-L5-A88T-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0c0de631-e459-4b8a-9a6d-12ef96cd4db6	568152ed-685a-4d60-b2aa-bd470368a875	g.chrX:151130908A>C	ENST00000370328.3	-	4	603	c.550T>G	c.(550-552)Ttg>Gtg	p.L184V	GABRE_ENST00000393914.3_Missense_Mutation_p.C18W|GABRE_ENST00000370325.1_Missense_Mutation_p.L184V|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	184					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATTGTGTACAACACCTTGCCA	0.468																																																	0													118	84	96					X																	151130908		2203	4300	6503	SO:0001583	missense	0			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.550T>G	X.37:g.151130908A>C	ENSP00000359353:p.Leu184Val		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L184V	ENST00000370328.3	37	c.550	CCDS14703.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.99|16.99	3.272875|3.272875	0.59649|0.59649	.|.	.|.	ENSG00000102287|ENSG00000102287	ENST00000393914|ENST00000370328;ENST00000370325	.|T;T	.|0.79033	.|-1.23;-1.23	5.47|5.47	-1.89|-1.89	0.07689|0.07689	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.000000	.|0.37761	.|N	.|0.001958	D|D	0.84202|0.84202	0.5420|0.5420	M|M	0.69523|0.69523	2.12|2.12	0.34736|0.34736	D|D	0.730258|0.730258	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	D|D	0.85918|0.85918	0.1444|0.1444	6|10	0.87932|0.87932	D|D	0|0	.|.	12.0766|12.0766	0.53647|0.53647	0.3692:0.0:0.6308:0.0|0.3692:0.0:0.6308:0.0	.|.	.|184	.|P78334	.|GBRE_HUMAN	W|V	18|184	.|ENSP00000359353:L184V;ENSP00000359350:L184V	ENSP00000377491:C18W|ENSP00000359350:L184V	C|L	-|-	3|1	2|2	GABRE|GABRE	150881564|150881564	0.990000|0.990000	0.36364|0.36364	0.994000|0.994000	0.49952|0.49952	0.877000|0.877000	0.50540|0.50540	1.058000|1.058000	0.30504|0.30504	-0.372000|-0.372000	0.07992|0.07992	0.430000|0.430000	0.28490|0.28490	TGT|TTG	GABRE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000102287		0.468	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	-	0	60	0	A	NM_004961, NM_021990, NM_021984		151130908	-1	tier1	-	no_errors	ENST00000370328	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.881	C	C	151130908	A	C	151130908	3	2	72	1	0	0	0	0	1	0	0	0	6194	40	2	4	994	4	GABRE	23	151130908	Missense_Mutation	SNP	A	TCGA-L5-A88T-01A-11D-A351-09	10859855	151130908	4139652	128	19439											
VPS13D	55187	genome.wustl.edu	37	chr1	12351120	12351120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgacctcacatgccatggaGagttctacagagaacggttc	11	9	11	10	1	2	3	1	1	1	2	3	5	2	3	2	2	3	2	2	2	2	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:12351120G>C	ENST00000358136.3	+	23	5921	c.5791G>C	c.(5791-5793)Gag>Cag	p.E1931Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1931Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCATGGAGAGTTCTACAG	0.413																																																	0													118	106	110					1																	12351120		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5791G>C	1.37:g.12351120G>C	ENSP00000350854:p.Glu1931Gln			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E1931Q	ENST00000358136.3	37	c.5791	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.690031|2.690031	0.48097|0.48097	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53206	.|0.63;0.63	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.235542|0.235542	0.41712|0.41712	N|D	0.000822|0.000822	T|T	0.39963|0.39963	0.1098|0.1098	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.27656	.|0.184;0.115	.|B;B	.|0.36534	.|0.227;0.113	T|T	0.17592|0.17592	-1.0364|-1.0364	6|10	.|0.13108	.|T	.|0.6	.|.	19.3714|19.3714	0.94488|0.94488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1931;1931	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	D|Q	753|1931	.|ENSP00000348666:E1931Q;ENSP00000350854:E1931Q	.|ENSP00000348666:E1931Q	E|E	+|+	3|1	2|0	VPS13D|VPS13D	12273707|12273707	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.585000|7.585000	0.82584|0.82584	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GAG|GAG	VPS13D	-	NULL	ENSG00000048707		0.413	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0	26	0	G	NM_015378		12351120	1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	42.86	8	6	SNP	1.000	C	C	12351120	G	C	12351120	3	2	73	1	0	0	0	0	1	0	0	0	17241	943	33	5	5877	5	VPS13D	1	12351120	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		12351120	236899501	1	19440											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12918962	12918962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccatggaggagctgcccaGggtgctctatctcccactct	6	10	11	14	0	3	0	0	0	3	0	4	2	3	2	3	3	4	2	3	3	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:12918962G>A	ENST00000240189.2	+	2	185	c.98G>A	c.(97-99)aGg>aAg	p.R33K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	33			R -> S (in dbSNP:rs9661554).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCCCAGGGTGCTCTAT	0.622																																																	0													99	108	105					1																	12918962		2201	4296	6497	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.98G>A	1.37:g.12918962G>A	ENSP00000240189:p.Arg33Lys			Missense_Mutation	SNP	NULL	p.R33K	ENST00000240189.2	37	c.98	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.107516	0.00356	.	.	ENSG00000120952	ENST00000240189	T	0.04603	3.59	0.842	-1.68	0.08212	.	1.537720	0.04347	N	0.355072	T	0.06005	0.0156	L	0.42581	1.335	0.09310	N	1	B	0.25441	0.126	B	0.31495	0.131	T	0.44390	-0.9331	10	0.29301	T	0.29	.	6.4058	0.21664	0.0:0.6037:0.3963:0.0	.	33	O60811	PRAM2_HUMAN	K	33	ENSP00000240189:R33K	ENSP00000240189:R33K	R	+	2	0	PRAMEF2	12841549	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-1.234000	0.02931	-0.906000	0.03866	-1.052000	0.02337	AGG	PRAMEF2	-	NULL	ENSG00000120952		0.622	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	-	0	155	0	G	NM_023014		12918962	1	tier1	-	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	36.84	60	35	SNP	0.000	A	A	12918962	G	A	12918962	3	1	73	1	0	0	0	0	1	0	0	0	12477	1000	35	3	100	3	PRAMEF2	1	12918962	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	567842	12918962	236331659	2	19441											
RCAN3	11123	genome.wustl.edu	37	chr1	24857853	24857853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacgaaacagacttcaatgGgcagaagctaaagctatatt	16	8	8	9	1	1	2	1	0	0	2	1	3	1	2	1	1	3	3	1	1	7	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:24857853G>A	ENST00000374395.4	+	3	654	c.341G>A	c.(340-342)gGg>gAg	p.G114E	RCAN3_ENST00000374393.2_Intron|RN7SL857P_ENST00000580228.1_RNA|RCAN3_ENST00000538532.1_Intron|RCAN3_ENST00000436717.2_Missense_Mutation_p.G114E|RCAN3_ENST00000412742.2_Missense_Mutation_p.G114E	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	114					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		GACTTCAATGGGCAGAAGCTA	0.393																																																	0													54	56	55					1																	24857853		2203	4300	6503	SO:0001583	missense	0				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"Down syndrome critical region gene 1-like 2"	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.341G>A	1.37:g.24857853G>A	ENSP00000363516:p.Gly114Glu		A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.G114E	ENST00000374395.4	37	c.341	CCDS254.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659780	0.88154	.	.	ENSG00000117602	ENST00000374395;ENST00000436717;ENST00000412742	T;T	0.53423	0.62;0.63	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	M	0.76002	2.32	0.80722	D	1	P;D;D	0.89917	0.815;1.0;1.0	P;D;D	0.97110	0.607;1.0;1.0	T	0.65129	-0.6243	10	0.31617	T	0.26	-3.9421	20.1454	0.98074	0.0:0.0:1.0:0.0	.	114;114;114	E7ENV1;Q9UKA8-2;Q9UKA8	.;.;RCAN3_HUMAN	E	114	ENSP00000363516:G114E;ENSP00000414447:G114E	ENSP00000363516:G114E	G	+	2	0	RCAN3	24730440	1.000000	0.71417	0.564000	0.28396	0.985000	0.73830	9.171000	0.94802	2.748000	0.94277	0.650000	0.86243	GGG	RCAN3	-	pfam_Calcipressin	ENSG00000117602		0.393	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	-	0	60	0	G			24857853	1	tier1	-	no_errors	ENST00000374395	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	A	A	24857853	G	A	24857853	3	1	73	1	0	0	0	0	1	0	0	0	13215	1232	43	3	347	3	RCAN3	1	24857853	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	11938891	24857853	224392768	3	19442											
RNF19B	127544	genome.wustl.edu	37	chr1	33412075	33412075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaatgagagaaatcccCactggagcaccaatcaacgt	15	5	8	13	1	1	2	1	1	0	1	2	4	2	3	4	1	3	2	4	1	4	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:33412075C>T	ENST00000373456.7	-	4	1076	c.1077G>A	c.(1075-1077)gtG>gtA	p.V359V	RNF19B_ENST00000235150.4_Silent_p.V358V|RNF19B_ENST00000356990.5_Silent_p.V358V	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	359					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGAAATCCCCACTGGAGCAC	0.507																																																	0													93	74	81					1																	33412075		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"RING-type (C3HC4) zinc fingers"	26886	protein-coding gene	gene with protein product		610872	"IBR domain containing 3"	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.1077G>A	1.37:g.33412075C>T			B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Silent	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.V359	ENST00000373456.7	37	c.1077	CCDS372.2	1																																																																																			RNF19B	-	NULL	ENSG00000116514		0.507	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF19B	HGNC	protein_coding	OTTHUMT00000011465.3	-	0	69	0	C	NM_153341		33412075	-1	tier1	-	no_errors	ENST00000373456	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.997	T	T	33412075	C	T	33412075	2	4	73	1	0	0	0	0	0	0	0	1	13516	581	21	3		3	RNF19B	1	33412075	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	8554222	33412075	215838546	4	19443											
RRAGC	64121	genome.wustl.edu	37	chr1	39325198	39325200	+	In_Frame_Del	DEL	CCG	CCG	-																															ccctgccccaacccctccgcCcgccgccgccgcctcctctt																								rs113599946		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	CCG	CCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:39325198_39325200delCCG	ENST00000373001.3	-	1	295_297	c.119_121delCGG	c.(118-123)gcgggc>ggc	p.A40del	RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				acccctccgcccgccgccgccgc	0.714																																																	0										6,1724		1,4,860						2	0.6			2	44,4064		15,14,2025	no	coding	RRAGC	NM_022157.2		16,18,2885	A1A1,A1R,RR		1.0711,0.3468,0.8565				50,5788				SO:0001651	inframe_deletion	0			AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.119_121delCGG	1.37:g.39325207_39325209delCCG	ENSP00000362092:p.Ala40del			In_Frame_Del	DEL	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.A40in_frame_del	ENST00000373001.3	37	c.121_119	CCDS430.1	1																																																																																			RRAGC	-	NULL	ENSG00000116954		0.714	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGC	HGNC	protein_coding	OTTHUMT00000001222.2		0	26	0	CCG	NM_022157		39325200	-1			no_errors	ENST00000373001	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.904:0.792:0.805	0	-	39325200	CCG	-	39325198	7	5	73	1	0	1	0	1	0	0	0	0	13719	623	22	0	1106	0	RRAGC	1	39325198	In_Frame_Del	DEL	CCG	TCGA-L5-A88V-01A-11D-A351-09	5913123	39325198	209925423	5	19444											
TOE1	114034	genome.wustl.edu	37	chr1	45807158	45807158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaggtgcattgaggaaCgttacaaggccgtgtgtcat	10	9	12	10	2	1	1	1	1	0	0	1	2	1	2	3	3	3	2	3	3	4	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:45807158C>T	ENST00000372090.5	+	4	833	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000539779.1_Intron|MUTYH_ENST00000528013.2_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	84						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CATTGAGGAACGTTACAAGGC	0.577																																																	0													74	70	71					1																	45807158		2203	4300	6503	SO:0001583	missense	0				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.250C>T	1.37:g.45807158C>T	ENSP00000361162:p.Arg84Cys		B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom	p.R84C	ENST00000372090.5	37	c.250	CCDS521.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026815	0.75390	.	.	ENSG00000132773	ENST00000372090	T	0.26067	1.76	5.46	5.46	0.80206	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59306	-0.7479	10	0.62326	D	0.03	-12.2959	14.1613	0.65448	0.1499:0.8501:0.0:0.0	.	90;84	B4DP23;Q96GM8	.;TOE1_HUMAN	C	84	ENSP00000361162:R84C	ENSP00000361162:R84C	R	+	1	0	TOE1	45579745	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	1.523000	0.35932	2.719000	0.93026	0.555000	0.69702	CGT	TOE1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000132773		0.577	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	HGNC	protein_coding	OTTHUMT00000020517.1		0	27	0	C	NM_025077		45807158	1			no_errors	ENST00000372090	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T	T	45807158	C	T	45807158	3	4	73	1	0	0	0	0	1	0	0	0	16396	536	19	1	264	1	TOE1	1	45807158	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	6481960	45807158	203443463	6	19445											
F3	2152	genome.wustl.edu	37	chr1	95005863	95005863	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttgggttcccactccaaAattgtcttgaaattagttga	10	15	9	7	0	1	2	0	2	1	0	3	2	3	2	2	2	0	3	2	2	4	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:95005863A>T	ENST00000334047.7	-	2	325	c.162T>A	c.(160-162)atT>atA	p.I54I	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.I54I	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	54					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCCACTCCAAAATTGTCTTGA	0.348																																					Melanoma(40;358 1339 15970 39161)												0													145	146	146					1																	95005863		2203	4300	6503	SO:0001819	synonymous_variant	0			BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"CD molecules"	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.162T>A	1.37:g.95005863A>T			D3DT47|Q6FHG2|Q86WH4	Silent	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor	p.I54	ENST00000334047.7	37	c.162	CCDS750.1	1																																																																																			F3	-	superfamily_Fibronectin_type3,pirsf_Tissue_fac/coagulation_fac-3,prints_Tissue_factor	ENSG00000117525		0.348	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F3	HGNC	protein_coding	OTTHUMT00000029593.1	-	0	111	0	A	NM_001993		95005863	-1	tier1	-	no_errors	ENST00000334047	ensembl	human	known	74_37	silent	34.88	56	30	SNP	0.990	T	T	95005863	A	T	95005863	2	4	73	1	0	0	0	0	0	0	0	1	5363	10	1	5		5	F3	1	95005863	Silent	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	49198705	95005863	154244758	7	19446											
DPYD	1806	genome.wustl.edu	37	chr1	97839190	97839190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttaactccagggcatctGctccagaatcctttaaacaa	14	11	5	11	0	1	1	0	0	1	1	4	1	4	1	3	1	3	2	3	1	6	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:97839190G>T	ENST00000370192.3	-	16	2085	c.1985C>A	c.(1984-1986)gCa>gAa	p.A662E		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	662					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CAGGGCATCTGCTCCAGAATC	0.428																																																	0													54	53	54					1																	97839190		2203	4300	6503	SO:0001583	missense	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1985C>A	1.37:g.97839190G>T	ENSP00000359211:p.Ala662Glu		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.A662E	ENST00000370192.3	37	c.1985	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885048	0.91814	.	.	ENSG00000188641	ENST00000370192	T	0.80123	-1.34	5.57	5.57	0.84162	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94809	0.7977	10	0.87932	D	0	-17.0079	19.9003	0.96983	0.0:0.0:1.0:0.0	.	662	Q12882	DPYD_HUMAN	E	662	ENSP00000359211:A662E	ENSP00000359211:A662E	A	-	2	0	DPYD	97611778	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.966000	0.93397	2.776000	0.95493	0.585000	0.79938	GCA	DPYD	-	pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH	ENSG00000188641		0.428	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3		0	76	0	G	NM_000110		97839190	-1			no_errors	ENST00000370192	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	97839190	G	T	97839190	3	4	73	1	0	0	0	0	1	0	0	0	4759	1319	46	3	1124	3	DPYD	1	97839190	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2833327	97839190	151411431	8	19447											
LRRC39	127495	genome.wustl.edu	37	chr1	100626108	100626108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggttaagcttactcgttCttcccagatccgcactagcc	7	13	7	14	2	1	1	0	0	1	1	4	1	3	1	3	1	3	4	3	1	3	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:100626108C>T	ENST00000370137.1	-	4	331	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	LRRC39_ENST00000370138.1_Missense_Mutation_p.E45K|LRRC39_ENST00000342895.3_Missense_Mutation_p.E45K	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	45										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CTTACTCGTTCTTCCCAGATC	0.373																																																	0													149	146	147					1																	100626108		2203	4300	6503	SO:0001583	missense	0			AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.133G>A	1.37:g.100626108C>T	ENSP00000359156:p.Glu45Lys		B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E45K	ENST00000370137.1	37	c.133	CCDS766.1	1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791244	0.90367	.	.	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.00349	7.99;7.99;7.99	4.99	4.99	0.66335	.	0.115304	0.38605	N	0.001629	T	0.00073	0.0002	N	0.14661	0.345	0.38022	D	0.934876	P;P	0.39480	0.675;0.546	B;B	0.38428	0.273;0.115	T	0.82106	-0.0621	10	0.22706	T	0.39	.	12.0694	0.53607	0.0:0.9205:0.0:0.0795	.	45;45	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	K	45	ENSP00000359156:E45K;ENSP00000359157:E45K;ENSP00000344470:E45K	ENSP00000344470:E45K	E	-	1	0	LRRC39	100398696	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.305000	0.59110	2.495000	0.84180	0.650000	0.86243	GAA	LRRC39	-	NULL	ENSG00000122477		0.373	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC39	HGNC	protein_coding	OTTHUMT00000029917.2	-	0	94	0	C	NM_144620		100626108	-1	tier1	-	no_errors	ENST00000370138	ensembl	human	known	74_37	missense	39.13	28	18	SNP	1.000	T	T	100626108	C	T	100626108	3	4	73	1	0	0	0	0	1	0	0	0	9030	922	32	3	902	3	LRRC39	1	100626108	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	2786918	100626108	148624513	9	19448											
AMY2B	280	genome.wustl.edu	37	chr1	104116391	104116391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagaaagattatgtgcgttCcaagattgccgaatatatga	14	11	11	5	2	0	4	0	1	0	3	1	6	1	4	2	1	2	1	2	1	6	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:104116391C>G	ENST00000361355.4	+	6	1191	c.575C>G	c.(574-576)tCc>tGc	p.S192C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	192					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TATGTGCGTTCCAAGATTGCC	0.408																																																	0													437	421	426					1																	104116391		2203	4300	6503	SO:0001583	missense	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.575C>G	1.37:g.104116391C>G	ENSP00000354610:p.Ser192Cys		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.S192C	ENST00000361355.4	37	c.575	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608482	0.46527	.	.	ENSG00000240038	ENST00000361355	D	0.98493	-4.96	4.74	4.74	0.60224	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.431503	0.24594	N	0.037186	D	0.98140	0.9386	M	0.78049	2.395	0.36273	D	0.855325	D	0.64830	0.994	P	0.57425	0.82	D	0.99818	1.1045	10	0.87932	D	0	.	12.8445	0.57821	0.1633:0.8367:0.0:0.0	.	192	P19961	AMY2B_HUMAN	C	192	ENSP00000354610:S192C	ENSP00000354610:S192C	S	+	2	0	AMY2B	103917914	0.992000	0.36948	0.460000	0.27093	0.381000	0.30169	3.469000	0.53093	2.204000	0.70986	0.644000	0.83932	TCC	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.408	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	-	0	241	0	C	NM_020978		104116391	1	tier1	-	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	37.23	86	51	SNP	0.936	G	G	104116391	C	G	104116391	3	3	73	1	0	0	0	0	1	0	0	0	595	855	30	5	589	5	AMY2B	1	104116391	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	3490283	104116391	145134230	10	19449											
CAPZA1	829	genome.wustl.edu	37	chr1	113212706	113212706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccgcaccaaaatcgactgGaacaagatactcagctacaa	17	5	6	13	2	1	1	1	0	0	1	2	3	1	2	2	1	4	2	2	1	7	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:113212706G>A	ENST00000263168.3	+	10	1485	c.813G>A	c.(811-813)tgG>tgA	p.W271*	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	271					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATCGACTGGAACAAGATAC	0.428																																																	0													70	66	67					1																	113212706		2202	4300	6502	SO:0001587	stop_gained	0			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.813G>A	1.37:g.113212706G>A	ENSP00000263168:p.Trp271*		Q53FQ6|Q6FHD5	Nonsense_Mutation	SNP	pfam_CapZ_alpha,prints_CapZ_alpha	p.W271*	ENST00000263168.3	37	c.813	CCDS30805.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.335271	0.99140	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.63	5.63	0.86233	.	0.117654	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7702	19.7026	0.96062	0.0:0.0:1.0:0.0	.	.	.	.	X	271	.	ENSP00000263168:W271X	W	+	3	0	CAPZA1	113014229	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.788000	0.99064	2.829000	0.97493	0.644000	0.83932	TGG	CAPZA1	-	pfam_CapZ_alpha,prints_CapZ_alpha	ENSG00000116489		0.428	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	HGNC	protein_coding	OTTHUMT00000032567.2	-	0	51	0	G	NM_006135		113212706	1	tier1	-	no_errors	ENST00000263168	ensembl	human	known	74_37	nonsense	50.00	13	13	SNP	1.000	A	A	113212706	G	A	113212706	4	1	73	1	0	0	0	0	0	1	0	0	2647	1183	41	3	851	3	CAPZA1	1	113212706	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	9096315	113212706	136037915	11	19450											
PHTF1	10745	genome.wustl.edu	37	chr1	114269063	114269063	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgatttccattgttTcctgatggtcttgttatctg	4	21	7	9	1	3	1	0	1	3	0	6	2	5	1	2	1	0	2	2	1	1	7	rs150320233		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:114269063T>C	ENST00000369604.1	-	6	948	c.465A>G	c.(463-465)ggA>ggG	p.G155G	PHTF1_ENST00000369598.1_Silent_p.G155G|PHTF1_ENST00000357783.2_Silent_p.G155G|PHTF1_ENST00000447664.2_Silent_p.G155G|PHTF1_ENST00000369600.1_Silent_p.G102G|PHTF1_ENST00000369596.2_Silent_p.G102G|PHTF1_ENST00000393357.2_Silent_p.G155G			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	155					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCATTGTTTCCTGATGGTC	0.358																																																	0													166	140	149					1																	114269063		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.465A>G	1.37:g.114269063T>C			Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Silent	SNP	pfam_TF_homeodomain_male	p.G155	ENST00000369604.1	37	c.465	CCDS861.1	1																																																																																			PHTF1	-	pfam_TF_homeodomain_male	ENSG00000116793		0.358	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	-	0	62	0	T	NM_006608		114269063	-1	tier1	-	no_errors	ENST00000369604	ensembl	human	known	74_37	silent	74.07	7	20	SNP	0.994	C	C	114269063	T	C	114269063	2	2	73	1	0	0	0	0	0	0	0	1	11901	1770	62	4		4	PHTF1	1	114269063	Silent	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	1056357	114269063	134981558	12	19451											
TSPAN2	10100	genome.wustl.edu	37	chr1	115604801	115604801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcatggctccgcagcacccGaagaaccccacggccatcat	10	4	9	18	4	1	1	1	0	0	1	2	2	2	1	5	2	2	4	5	2	2	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:115604801G>A	ENST00000369516.2	-	3	256	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TSPAN2_ENST00000369514.2_Silent_p.F75F|TSPAN2_ENST00000369515.2_Silent_p.F75F	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	75					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CGCAGCACCCGAAGAACCCCA	0.632																																																	0													52	45	47					1																	115604801		2203	4297	6500	SO:0001819	synonymous_variant	0			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.225C>T	1.37:g.115604801G>A			D6PTH4|Q5TET2|Q8WU05	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.F75	ENST00000369516.2	37	c.225	CCDS881.1	1																																																																																			TSPAN2	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000134198		0.632	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN2	HGNC	protein_coding	OTTHUMT00000032828.1	-	0	217	0	G	NM_005725		115604801	-1	tier1	-	no_errors	ENST00000369516	ensembl	human	known	74_37	silent	32.67	68	33	SNP	0.951	A	A	115604801	G	A	115604801	2	1	73	1	0	0	0	0	0	0	0	1	16692	1049	37	1		1	TSPAN2	1	115604801	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1335738	115604801	133645820	13	19452											
LCE2D	353141	genome.wustl.edu	37	chr1	152636848	152636848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgccggcaccagagcccCgattgctgtgagagtgaacc	8	5	14	14	4	0	3	0	2	0	2	0	5	0	3	5	2	3	2	5	2	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:152636848C>T	ENST00000368784.1	+	2	322	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	89	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGAGCCCCGATTGCTGTG	0.667																																																	0													43	55	51					1																	152636848		2197	4291	6488	SO:0001819	synonymous_variant	0			BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"Late cornified envelopes"	16518	protein-coding gene	gene with protein product		612612	"small proline rich-like (epidermal differentiation complex) 1A"	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.267C>T	1.37:g.152636848C>T			A1L4M8	Silent	SNP	NULL	p.P89	ENST00000368784.1	37	c.267	CCDS1018.1	1																																																																																			LCE2D	-	NULL	ENSG00000187223		0.667	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2D	HGNC	protein_coding	OTTHUMT00000040058.1	-	0	104	0	C	NM_178430		152636848	1	tier1	-	no_errors	ENST00000368784	ensembl	human	known	74_37	silent	27.91	93	36	SNP	0.002	T	T	152636848	C	T	152636848	2	4	73	1	0	0	0	0	0	0	0	1	8696	639	23	1		1	LCE2D	1	152636848	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	37032047	152636848	96613773	14	19453											
CACNA1E	777	genome.wustl.edu	37	chr1	181732596	181732596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctcttccgagctgccCgcctcataaagctcctgcgt	7	10	9	15	3	2	1	1	1	1	0	4	2	4	1	4	0	5	3	4	0	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:181732596C>T	ENST00000367573.2	+	34	4744	c.4744C>T	c.(4744-4746)Cgc>Tgc	p.R1582C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1514C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1189C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1533C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1563C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1563C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1582C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1582					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGAGCTGCCCGCCTCATAAA	0.468																																																	0													84	82	83					1																	181732596		1862	4100	5962	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4744C>T	1.37:g.181732596C>T	ENSP00000356545:p.Arg1582Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1582C	ENST00000367573.2	37	c.4744	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017347	0.93404	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	5.28	5.28	0.74379	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.99820	4.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;0.911	D	0.96118	0.9082	10	0.87932	D	0	.	18.5083	0.90905	0.0:1.0:0.0:0.0	.	1563;1582;1582	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1582;1563;1533;1514;1189;1563;1582	ENSP00000356542:R1582C;ENSP00000434814:R1563C;ENSP00000350183:R1533C;ENSP00000351101:R1514C;ENSP00000356539:R1189C;ENSP00000353222:R1563C;ENSP00000356545:R1582C	ENSP00000350183:R1533C	R	+	1	0	CACNA1E	179999219	0.996000	0.38824	1.000000	0.80357	0.921000	0.55340	3.423000	0.52756	2.471000	0.83476	0.467000	0.42956	CGC	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.468	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	66	0	C	NM_000721		181732596	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	37.68	42	26	SNP	1.000	T	T	181732596	C	T	181732596	3	4	73	1	0	0	0	0	1	0	0	0	2549	652	23	1	4878	1	CACNA1E	1	181732596	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	29095748	181732596	67518025	15	19454											
CACNA1E	777	genome.wustl.edu	37	chr1	181732614	181732614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcctcataaagctcctgCgtcagggctataccatacgc	9	8	8	16	3	2	0	2	0	0	0	3	0	3	0	4	1	4	2	4	1	5	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:181732614C>T	ENST00000367573.2	+	34	4762	c.4762C>T	c.(4762-4764)Cgt>Tgt	p.R1588C	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1520C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1195C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1539C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1569C|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1569C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1588C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1588					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAGCTCCTGCGTCAGGGCTA	0.478																																																	0													78	75	76					1																	181732614		1870	4104	5974	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4762C>T	1.37:g.181732614C>T	ENSP00000356545:p.Arg1588Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1588C	ENST00000367573.2	37	c.4762	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992260	0.74703	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14;-5.14;-5.14;-5.14	5.28	3.31	0.37934	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.996	D	0.98158	1.0445	10	0.87932	D	0	.	14.205	0.65728	0.2702:0.7298:0.0:0.0	.	1569;1588;1588	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1588;1569;1539;1520;1195;1569;1588	ENSP00000356542:R1588C;ENSP00000434814:R1569C;ENSP00000350183:R1539C;ENSP00000351101:R1520C;ENSP00000356539:R1195C;ENSP00000353222:R1569C;ENSP00000356545:R1588C	ENSP00000350183:R1539C	R	+	1	0	CACNA1E	179999237	0.999000	0.42202	0.955000	0.39395	0.930000	0.56654	3.611000	0.54132	1.200000	0.43188	0.467000	0.42956	CGT	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	71	0	C	NM_000721		181732614	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.999	T	T	181732614	C	T	181732614	3	4	73	1	0	0	0	0	1	0	0	0	2549	768	27	1	4896	1	CACNA1E	1	181732614	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	18	181732614	67518007	16	19455											
ZNF281	23528	genome.wustl.edu	37	chr1	200377974	200377974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctgcactggaaaggtCtttctcctgtatgaatgagg	9	12	12	8	0	2	2	0	2	2	0	3	3	2	3	1	4	1	3	1	4	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:200377974C>A	ENST00000294740.3	-	2	984	c.860G>T	c.(859-861)aGa>aTa	p.R287I	ZNF281_ENST00000367353.1_Missense_Mutation_p.R287I|ZNF281_ENST00000367352.3_Missense_Mutation_p.R251I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	287					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGGAAAGGTCTTTCTCCTGT	0.443																																																	0													88	86	86					1																	200377974		2203	4300	6503	SO:0001583	missense	0			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"Zinc fingers, C2H2-type"	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.860G>T	1.37:g.200377974C>A	ENSP00000294740:p.Arg287Ile		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R287I	ENST00000294740.3	37	c.860	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858088	0.71834	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352	T;T;T	0.20332	2.08;2.08;2.08	5.64	5.64	0.86602	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56108	0.1963	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.63659	-0.6587	10	0.87932	D	0	0.5674	19.715	0.96113	0.0:1.0:0.0:0.0	.	251;287	A6NF48;Q9Y2X9	.;ZN281_HUMAN	I	287;287;251	ENSP00000294740:R287I;ENSP00000356322:R287I;ENSP00000356321:R251I	ENSP00000294740:R287I	R	-	2	0	ZNF281	198644597	0.998000	0.40836	0.518000	0.27811	0.997000	0.91878	5.957000	0.70323	2.644000	0.89710	0.655000	0.94253	AGA	ZNF281	-	pfscan_Znf_C2H2	ENSG00000162702		0.443	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	-	0	66	0	C	NM_012482		200377974	-1	tier1	-	no_errors	ENST00000294740	ensembl	human	known	74_37	missense	48.28	30	28	SNP	0.996	A	A	200377974	C	A	200377974	3	1	73	1	0	0	0	0	1	0	0	0	17866	913	32	3	1831	3	ZNF281	1	200377974	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	18645360	200377974	48872647	17	19456											
PLEKHA6	22874	genome.wustl.edu	37	chr1	204192692	204192692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcaggggaggtgggaGggcttggggtggcacattgc	7	6	23	5	0	0	0	0	0	0	0	0	3	0	3	0	9	2	3	0	9	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:204192692G>T	ENST00000272203.3	-	22	3369	c.3053C>A	c.(3052-3054)cCt>cAt	p.P1018H	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P1038H	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1018										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGAGGTGGGAGGGCTTGGGGT	0.647																																																	0													15	15	15					1																	204192692		2038	3968	6006	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3053C>A	1.37:g.204192692G>T	ENSP00000272203:p.Pro1018His		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P1018H	ENST00000272203.3	37	c.3053	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350779	0.82132	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.12672	2.66;3.12	4.72	4.72	0.59763	.	0.076370	0.51477	D	0.000088	T	0.29524	0.0736	L	0.40543	1.245	0.53005	D	0.999963	D	0.89917	1.0	D	0.83275	0.996	T	0.02333	-1.1175	10	0.87932	D	0	-7.0819	15.8456	0.78887	0.0:0.0:1.0:0.0	.	1018	Q9Y2H5	PKHA6_HUMAN	H	1018;1038	ENSP00000272203:P1018H;ENSP00000402046:P1038H	ENSP00000272203:P1018H	P	-	2	0	PLEKHA6	202459315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.258000	0.78371	2.335000	0.79485	0.555000	0.69702	CCT	PLEKHA6	-	NULL	ENSG00000143850		0.647	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	-	0	119	0	G	NM_014935		204192692	-1	tier1	-	no_errors	ENST00000272203	ensembl	human	known	74_37	missense	59.40	54	79	SNP	1.000	T	T	204192692	G	T	204192692	3	4	73	1	0	0	0	0	1	0	0	0	12099	1000	35	3	97	3	PLEKHA6	1	204192692	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	3814718	204192692	45057929	18	19457											
USH2A	7399	genome.wustl.edu	37	chr1	216256830	216256830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtccatctttgttataaaCgaaaagaagcaatccattta	16	12	6	7	1	1	1	0	0	1	1	3	2	3	1	2	1	2	2	2	1	8	5	rs143208990		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:216256830C>T	ENST00000307340.3	-	26	5652	c.5266G>A	c.(5266-5268)Gtt>Att	p.V1756I	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.V1756I|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1756	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V1756I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTTATAAACGAAAAGAAGC	0.303										HNSCC(13;0.011)			C|||	1	0.000199681	0	0	5008	,	,		15339	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	ovary(1)						C	ILE/VAL	1,4403	2.1+/-5.4	0,1,2201	96	100	99		5266	-1.9	0.4	1	dbSNP_134	99	0,8598		0,0,4299	no	missense	USH2A	NM_206933.2	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	1756/5203	216256830	1,13001	2202	4299	6501	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5266G>A	1.37:g.216256830C>T	ENSP00000305941:p.Val1756Ile		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V1756I	ENST00000307340.3	37	c.5266	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	6.896	0.534809	0.13188	2.27E-4	0.0	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77750	-1.12;-1.12	4.38	-1.89	0.07689	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.783880	0.10646	N	0.650406	T	0.55862	0.1947	N	0.12471	0.22	0.09310	N	0.999998	B	0.10296	0.003	B	0.10450	0.005	T	0.37911	-0.9685	10	0.10377	T	0.69	.	11.0688	0.47991	0.0:0.2969:0.0:0.7031	.	1756	O75445	USH2A_HUMAN	I	1756	ENSP00000305941:V1756I;ENSP00000355910:V1756I	ENSP00000305941:V1756I	V	-	1	0	USH2A	214323453	0.008000	0.16893	0.367000	0.25926	0.938000	0.57974	-0.574000	0.05868	-0.673000	0.05259	-0.136000	0.14681	GTT	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	134	0	C	NM_007123		216256830	-1	tier1	rs143208990	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	22.84	125	37	SNP	0.472	T	T	216256830	C	T	216256830	3	4	73	1	0	0	0	0	1	0	0	0	17085	536	19	1	10530	1	USH2A	1	216256830	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	12064138	216256830	32993791	19	19458											
TAF5L	27097	genome.wustl.edu	37	chr1	229730322	229730322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttataaagggtcccagaggCcaagtcccacagcttcaacc	12	8	8	13	0	1	1	1	0	0	1	3	1	3	1	4	2	2	1	4	2	5	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:229730322C>T	ENST00000366676.1	-	4	1491	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	TAF5L_ENST00000258281.2_Missense_Mutation_p.A498T			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	498					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GTCCCAGAGGCCAAGTCCCAC	0.572																																																	0													73	74	73					1																	229730322		2203	4300	6503	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"WD repeat domain containing"	17304	protein-coding gene	gene with protein product	"PCAF associated factor 65 beta"		"TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1492G>A	1.37:g.229730322C>T	ENSP00000355636:p.Ala498Thr		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A498T	ENST00000366676.1	37	c.1492	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967046	0.74131	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.81078	-1.45;-1.45	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85423	0.5693	L	0.31476	0.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84122	0.0407	10	0.41790	T	0.15	-31.8333	20.4239	0.99064	0.0:1.0:0.0:0.0	.	498	O75529	TAF5L_HUMAN	T	498	ENSP00000355636:A498T;ENSP00000258281:A498T	ENSP00000258281:A498T	A	-	1	0	TAF5L	227796945	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.937000	0.70162	2.828000	0.97474	0.655000	0.94253	GCC	TAF5L	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000135801		0.572	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	-	0	65	0	C	NM_014409		229730322	-1	tier1	-	no_errors	ENST00000258281	ensembl	human	known	74_37	missense	7.04	66	5	SNP	1.000	T	T	229730322	C	T	229730322	3	4	73	1	0	0	0	0	1	0	0	0	15576	739	26	3	281	3	TAF5L	1	229730322	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	13473492	229730322	19520299	20	19459											
KCNK1	3775	genome.wustl.edu	37	chr1	233802494	233802494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtcctctacttccacaTccgctggggcttctccaagc	5	10	9	17	2	2	0	0	0	2	0	6	0	5	0	5	3	2	2	5	3	2	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:233802494T>A	ENST00000366621.3	+	2	677	c.509T>A	c.(508-510)aTc>aAc	p.I170N	KCNK1_ENST00000366620.1_Missense_Mutation_p.I54N|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	170					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	TACTTCCACATCCGCTGGGGC	0.607																																																	0													141	107	118					1																	233802494		2203	4300	6503	SO:0001583	missense	0			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.509T>A	1.37:g.233802494T>A	ENSP00000355580:p.Ile170Asn		Q13307|Q5T5E8	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.I170N	ENST00000366621.3	37	c.509	CCDS1599.1	1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930247	0.34096	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97455	1.92;-4.39;-4.39	5.91	4.79	0.61399	.	0.813976	0.11251	N	0.583592	D	0.93245	0.7848	L	0.29908	0.895	0.26713	N	0.970925	B	0.18166	0.026	B	0.18263	0.021	D	0.84219	0.0460	10	0.17369	T	0.5	.	10.2756	0.43507	0.0:0.0809:0.0:0.9191	.	170	O00180	KCNK1_HUMAN	N	170;54;88	ENSP00000355580:I170N;ENSP00000355579:I54N;ENSP00000409626:I88N	ENSP00000355579:I54N	I	+	2	0	KCNK1	231869117	0.488000	0.25996	0.901000	0.35422	0.989000	0.77384	1.889000	0.39718	1.067000	0.40740	0.533000	0.62120	ATC	KCNK1	-	pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1	ENSG00000135750		0.607	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1	-	0	54	0	T	NM_002245		233802494	1	tier1	-	no_errors	ENST00000366621	ensembl	human	known	74_37	missense	23.08	49	15	SNP	0.462	A	A	233802494	T	A	233802494	3	1	73	1	0	0	0	0	1	0	0	0	8085	1435	50	5	515	5	KCNK1	1	233802494	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	4072172	233802494	15448127	21	19460											
ARID4B	51742	genome.wustl.edu	37	chr1	235409746	235409748	+	In_Frame_Del	DEL	TCT	TCT	-																															tggacttacatatgattagaTcttcttcctctatttgtttt																										TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:235409746_235409748delTCT	ENST00000264183.3	-	7	930_932	c.433_435delAGA	c.(433-435)agadel	p.R145del	ARID4B_ENST00000349213.3_In_Frame_Del_p.R145del|ARID4B_ENST00000366603.2_In_Frame_Del_p.R145del	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	145					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TATGATTAGATCTTCTTCCTCTA	0.355																																																	0																																										SO:0001651	inframe_deletion	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.433_435delAGA	1.37:g.235409749_235409751delTCT	ENSP00000264183:p.Arg145del		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	In_Frame_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R145in_frame_del	ENST00000264183.3	37	c.435_433	CCDS31061.1	1																																																																																			ARID4B	-	NULL	ENSG00000054267		0.355	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3		0	106	0	TCT	NM_016374		235409748	-1	tier1		no_errors	ENST00000264183	ensembl	human	known	74_37	in_frame_del	27.27	72	27	DEL	1.000:1.000:1.000	-	-	235409748	TCT	-	235409746	7	5	73	1	0	1	0	1	0	0	0	0	920	1432	50	0	3575	0	ARID4B	1	235409746	In_Frame_Del	DEL	TCT	TCGA-L5-A88V-01A-11D-A351-09	1607252	235409746	13840875	22	19461											
RYR2	6262	genome.wustl.edu	37	chr1	237947132	237947132	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgaccccgatggcaaGggagtcatttccaagaggga	13	7	13	8	1	1	2	1	1	0	1	2	6	2	4	3	3	0	1	3	3	4	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:237947132G>C	ENST00000366574.2	+	90	12437	c.12120G>C	c.(12118-12120)aaG>aaC	p.K4040N	RYR2_ENST00000542537.1_Missense_Mutation_p.K4024N|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.K4046N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4040					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGATGGCAAGGGAGTCATTT	0.428																																																	0													49	47	48					1																	237947132		1899	4131	6030	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12120G>C	1.37:g.237947132G>C	ENSP00000355533:p.Lys4040Asn		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.K4046N	ENST00000366574.2	37	c.12138	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046555	0.55110	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.81659	-1.52;-1.52;-1.52	6.07	-0.855	0.10700	EF-hand-like domain (1);	0.000000	0.64402	D	0.000003	T	0.74359	0.3706	N	0.04508	-0.205	0.80722	D	1	D;D	0.76494	0.999;0.987	D;P	0.74674	0.984;0.87	T	0.73880	-0.3843	10	0.62326	D	0.03	.	11.9531	0.52966	0.5831:0.0:0.4169:0.0	.	1014;4040	B4DGV4;Q92736	.;RYR2_HUMAN	N	4040;4046;4024;1014	ENSP00000355533:K4040N;ENSP00000353174:K4046N;ENSP00000443798:K4024N	ENSP00000353174:K4046N	K	+	3	2	RYR2	236013755	0.998000	0.40836	0.980000	0.43619	0.916000	0.54674	0.684000	0.25364	-0.424000	0.07382	-0.140000	0.14226	AAG	RYR2	-	pfscan_EF_hand_dom	ENSG00000198626		0.428	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	43	0	G	NM_001035		237947132	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	8.47	53	5	SNP	0.994	C	C	237947132	G	C	237947132	3	2	73	1	0	0	0	0	1	0	0	0	13814	991	35	5	12478	5	RYR2	1	237947132	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2537386	237947132	11303489	23	19462											
ZNF672	79894	genome.wustl.edu	37	chr1	249142293	249142293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttccacgctgctgcgccatCggcgcagccatcagggcgag	6	6	14	15	5	1	0	1	0	0	0	3	1	2	0	3	2	3	4	3	2	0	1	rs371348856		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr1:249142293C>T	ENST00000306562.3	+	4	1566	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTGCGCCATCGGCGCAGCCA	0.687																																																	0																																										SO:0001583	missense	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.820C>T	1.37:g.249142293C>T	ENSP00000421915:p.Arg274Trp		Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R274W	ENST00000306562.3	37	c.820	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853186	0.51270	.	.	ENSG00000171161	ENST00000306562	T	0.18810	2.19	3.32	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.522525	0.14222	U	0.333358	T	0.31071	0.0785	M	0.70787	2.145	0.09310	N	1	D	0.69078	0.997	P	0.51229	0.663	T	0.12218	-1.0556	9	.	.	.	.	9.6637	0.39972	0.3584:0.6416:0.0:0.0	.	274	Q499Z4	ZN672_HUMAN	W	274	ENSP00000421915:R274W	.	R	+	1	2	ZNF672	247108916	0.022000	0.18835	0.603000	0.28903	0.566000	0.35808	0.651000	0.24873	0.217000	0.20800	0.561000	0.74099	CGG	ZNF672	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.687	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	-	0	17	0	C	NM_024836		249142293	1	tier1	-	no_errors	ENST00000306562	ensembl	human	known	74_37	missense	34.48	19	10	SNP	0.337	T	T	249142293	C	T	249142293	3	4	73	1	0	0	0	0	1	0	0	0	18127	875	31	1	822	1	ZNF672	1	249142293	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	11195161	249142293	108328	24	19463											
SOX11	6664	genome.wustl.edu	37	chr2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-																															agtgcgtgtttctggatgagGacgacgacgacgacgacgac																										TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	GAC	GAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC010729.1_ENST00000455579.2_RNA|AC108025.2_ENST00000420221.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC107057.2_ENST00000458264.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7																																																	0										5,289,3358		0,0,5,14,261,1546						-1.6	1			10	5,655,6658		0,0,5,23,609,3022	no	codingComplex	SOX11	NM_003108.3		0,0,10,37,870,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0189,8.0504,8.6964				10,944,10016				SO:0001651	inframe_deletion	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"SRY (sex determining region Y)-boxes"	11191	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 11"	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.673_675delGAC	2.37:g.5833535_5833537delGAC	ENSP00000322568:p.Asp233del		Q4ZFV8	In_Frame_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.D228in_frame_del	ENST00000322002.3	37	c.673_675	CCDS1654.1	2																																																																																			SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.7	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1		0	19	0	GAC	NM_003108		5833528	1	tier1		no_errors	ENST00000322002	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	1.000:1.000:0.999	-	-	5833528	GAC	-	5833526	7	5	73	1	0	1	0	1	0	0	0	0	14987	1174	41	0	675	0	SOX11	2	5833526	In_Frame_Del	DEL	GAC	TCGA-L5-A88V-01A-11D-A351-09		5833526	237365847	25	19464											
GDF7	151449	genome.wustl.edu	37	chr2	20870855	20870855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcgcgggccggggccaCgggcgcaggggccggagccg	3	0	25	13	7	0	0	0	0	0	0	0	1	0	1	4	9	1	1	4	9	0	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:20870855C>T	ENST00000272224.3	+	2	1599	c.1023C>T	c.(1021-1023)caC>caT	p.H341H		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	341					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)				breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gccggggccacgggcgcaggg	0.746																																																	0													11	12	11					2																	20870855		2177	4264	6441	SO:0001819	synonymous_variant	0			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1023C>T	2.37:g.20870855C>T				Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.H341	ENST00000272224.3	37	c.1023	CCDS1701.1	2																																																																																			GDF7	-	NULL	ENSG00000143869		0.746	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	-	0	8	0	C	NM_182828		20870855	1	tier1	-	no_errors	ENST00000272224	ensembl	human	known	74_37	silent	46.67	8	7	SNP	0.972	T	T	20870855	C	T	20870855	2	4	73	1	0	0	0	0	0	0	0	1	6344	535	19	1		1	GDF7	2	20870855	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	15037329	20870855	222328518	26	19465											
OTOF	9381	genome.wustl.edu	37	chr2	26698861	26698861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcggcggcaaagaggCtgcgggcctggtacatgtgc	6	8	17	10	3	0	1	0	0	0	1	1	1	0	1	1	5	4	4	1	5	2	1	rs397515596		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:26698861C>A	ENST00000272371.2	-	24	3038	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_ENST00000403946.3_Missense_Mutation_p.S971I|OTOF_ENST00000338581.6_Missense_Mutation_p.S224I|OTOF_ENST00000339598.3_Missense_Mutation_p.S224I|OTOF_ENST00000402415.3_Missense_Mutation_p.S281I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	971	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAAGAGGCTGCGGGCCTG	0.652																																					GBM(102;732 1451 20652 24062 31372)												0													43	39	40					2																	26698861		2201	4295	6496	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2912G>T	2.37:g.26698861C>A	ENSP00000272371:p.Ser971Ile		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S971I	ENST00000272371.2	37	c.2912	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.877370	0.91664	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.41	5.41	0.78517	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81460	0.4827	M	0.72576	2.205	0.80722	D	1	D;P;D;D	0.89917	1.0;0.916;1.0;0.995	D;P;D;D	0.77004	0.989;0.583;0.988;0.974	T	0.81174	-0.1053	10	0.46703	T	0.11	-41.4175	18.7824	0.91939	0.0:1.0:0.0:0.0	.	971;224;281;224	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	224;224;281;971;971	ENSP00000345137:S224I;ENSP00000344521:S224I;ENSP00000383906:S281I;ENSP00000272371:S971I;ENSP00000385255:S971I	ENSP00000272371:S971I	S	-	2	0	OTOF	26552365	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.017000	0.70805	2.546000	0.85860	0.561000	0.74099	AGC	OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000115155		0.652	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	99	0	C			26698861	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	26.32	84	30	SNP	1.000	A	A	26698861	C	A	26698861	3	1	73	1	0	0	0	0	1	0	0	0	11342	797	28	3	3358	3	OTOF	2	26698861	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	5828006	26698861	216500512	27	19466											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107459702	107459702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgccctgctcagcccGgcctcccgcttcccgcggaa	4	7	11	19	4	1	0	1	0	0	0	3	1	3	1	5	2	4	3	5	2	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:107459702G>A	ENST00000409382.3	-	2	1342	c.732C>T	c.(730-732)gcC>gcT	p.A244A	ST6GAL2_ENST00000361686.4_Silent_p.A244A|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000409087.3_Silent_p.A244A	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	244					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGCTCAGCCCGGCCTCCCGCT	0.692																																																	0													11	12	12					2																	107459702		2195	4294	6489	SO:0001819	synonymous_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.732C>T	2.37:g.107459702G>A			D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Silent	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.A244	ENST00000409382.3	37	c.732	CCDS2073.1	2																																																																																			ST6GAL2	-	NULL	ENSG00000144057		0.692	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0	33	0	G	NM_032528		107459702	-1			no_errors	ENST00000361686	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.000	A	A	107459702	G	A	107459702	2	1	73	1	0	0	0	0	0	0	0	1	15269	1103	39	1		1	ST6GAL2	2	107459702	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	80760841	107459702	135739671	28	19467											
INHBB	3625	genome.wustl.edu	37	chr2	121106818	121106818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcagccggcggaaggtgCgggtcaaagtgtacttccag	9	6	17	9	3	1	0	1	0	0	0	2	1	2	1	2	5	3	2	2	5	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:121106818C>T	ENST00000295228.3	+	2	638	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	198					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCGGAAGGTGCGGGTCAAAGT	0.602																																																	0													79	76	77					2																	121106818		2203	4300	6503	SO:0001583	missense	0				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"Endogenous ligands"	6067	protein-coding gene	gene with protein product		147390	"inhibin, beta B (activin AB beta polypeptide)"			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.592C>T	2.37:g.121106818C>T	ENSP00000295228:p.Arg198Trp		Q53T31|Q8N1D3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.R198W	ENST00000295228.3	37	c.592	CCDS2132.1	2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385211	0.61956	.	.	ENSG00000163083	ENST00000295228	T	0.70399	-0.48	4.94	4.94	0.65067	Transforming growth factor-beta, N-terminal (1);	0.087418	0.45867	D	0.000321	T	0.77572	0.4150	L	0.51422	1.61	0.39241	D	0.963859	D	0.76494	0.999	D	0.66979	0.948	T	0.79524	-0.1768	10	0.66056	D	0.02	-6.5689	10.9786	0.47480	0.2877:0.7123:0.0:0.0	.	198	P09529	INHBB_HUMAN	W	198	ENSP00000295228:R198W	ENSP00000295228:R198W	R	+	1	2	INHBB	120823288	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.378000	0.66190	2.728000	0.93425	0.655000	0.94253	CGG	INHBB	-	pfam_TGF-b_N,prints_Inhibin_betaB	ENSG00000163083		0.602	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	-	0	53	0	C			121106818	1	tier1	-	no_errors	ENST00000295228	ensembl	human	known	74_37	missense	50.00	27	27	SNP	1.000	T	T	121106818	C	T	121106818	3	4	73	1	0	0	0	0	1	0	0	0	7769	759	27	1	598	1	INHBB	2	121106818	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	13647116	121106818	122092555	29	19468											
RAB3GAP1	22930	genome.wustl.edu	37	chr2	135911238	135911238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagctaatccaggttgctCcctggaagattttgtgaggt	8	12	13	8	0	0	2	0	1	0	1	2	3	2	3	2	4	2	4	2	4	2	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:135911238C>T	ENST00000264158.8	+	19	2124	c.2081C>T	c.(2080-2082)tCc>tTc	p.S694F	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.S650F|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.S694F	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	694					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CCAGGTTGCTCCCTGGAAGAT	0.398																																																	0													86	94	91					2																	135911238		2203	4300	6503	SO:0001583	missense	0			D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2081C>T	2.37:g.135911238C>T	ENSP00000264158:p.Ser694Phe		A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	NULL	p.S694F	ENST00000264158.8	37	c.2081	CCDS33294.1	2	.	.	.	.	.	.	.	.	.	.	C	1.199	-0.633054	0.03584	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.42131	0.98;0.98;0.98	5.54	-2.36	0.06663	.	0.892392	0.09948	N	0.734992	T	0.23289	0.0563	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26985	-1.0087	10	0.17369	T	0.5	-0.0774	12.5552	0.56250	0.0:0.0722:0.6737:0.2541	.	694;694	C9J837;Q15042	.;RB3GP_HUMAN	F	694;650;694	ENSP00000264158:S694F;ENSP00000444306:S650F;ENSP00000411418:S694F	ENSP00000264158:S694F	S	+	2	0	RAB3GAP1	135627708	0.020000	0.18652	0.783000	0.31826	0.700000	0.40528	0.591000	0.23969	-0.206000	0.10203	-1.358000	0.01219	TCC	RAB3GAP1	-	NULL	ENSG00000115839		0.398	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP1	HGNC	protein_coding	OTTHUMT00000337514.2	-	0	57	0	C	NM_012233		135911238	1	tier1	-	no_errors	ENST00000264158	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.082	T	T	135911238	C	T	135911238	3	4	73	1	0	0	0	0	1	0	0	0	12980	855	30	3	2155	3	RAB3GAP1	2	135911238	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	14804420	135911238	107288135	30	19469											
NEB	4703	genome.wustl.edu	37	chr2	152466583	152466583	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcatcttcaatgctctGggctccaatgtggtggcctt	6	13	12	10	0	4	0	2	0	2	0	5	1	5	1	2	4	1	2	2	4	2	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:152466583G>A	ENST00000172853.10	-	77	11488	c.11341C>T	c.(11341-11343)Cag>Tag	p.Q3781*	NEB_ENST00000427231.2_Nonsense_Mutation_p.Q4024*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Q4024*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Q3781*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Q4024*|NEB_ENST00000603639.1_Nonsense_Mutation_p.Q4024*			P20929	NEBU_HUMAN	nebulin	3781					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q4024K(1)|p.Q3781K(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAATGCTCTGGGCTCCAATG	0.403																																																	2	Substitution - Missense(2)	lung(2)											134	125	128					2																	152466583		1909	4130	6039	SO:0001587	stop_gained	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11341C>T	2.37:g.152466583G>A	ENSP00000172853:p.Gln3781*		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.Q4024*	ENST00000172853.10	37	c.12070		2	.	.	.	.	.	.	.	.	.	.	G	53	20.762060	0.99934	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	.	.	.	5.36	3.51	0.40186	.	0.446831	0.22584	N	0.058168	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	14.8898	0.70600	0.0:0.0:0.5411:0.4589	.	.	.	.	X	3781;4024;4024;3781	.	ENSP00000172853:Q3781X	Q	-	1	0	NEB	152174829	0.989000	0.36119	0.846000	0.33378	0.998000	0.95712	2.059000	0.41384	0.711000	0.32018	0.650000	0.86243	CAG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.403	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	55	0	G	NM_004543		152466583	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	nonsense	35.29	33	18	SNP	0.986	A	A	152466583	G	A	152466583	4	1	73	1	0	0	0	0	0	1	0	0	10341	1357	47	3	14024	3	NEB	2	152466583	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	16555345	152466583	90732790	31	19470											
LY75	4065	genome.wustl.edu	37	chr2	160734874	160734874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaaaggttacagcccGccttcttccaccaacagttg	10	10	9	12	1	1	0	0	0	1	0	2	1	2	1	4	2	3	3	4	2	4	5	rs545499741		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:160734874G>A	ENST00000263636.4	-	11	1762	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R579W|LY75_ENST00000554112.1_Missense_Mutation_p.R579W|LY75_ENST00000553424.1_Missense_Mutation_p.R579W|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R579W	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	579	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTTACAGCCCGCCTTCTTCCA	0.423																																																	0													114	117	116					2																	160734874		2203	4300	6503	SO:0001583	missense	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1735C>T	2.37:g.160734874G>A	ENSP00000263636:p.Arg579Trp		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.R579W	ENST00000263636.4	37	c.1735	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339341	0.41398	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.53857	0.6;2.16;2.16;0.6;2.16	5.82	5.82	0.92795	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.863339	0.09387	N	0.809104	T	0.38453	0.1041	N	0.05487	-0.04	0.09310	N	1	B;B;B;B	0.12630	0.001;0.005;0.006;0.003	B;B;B;B	0.13407	0.009;0.001;0.002;0.001	T	0.29305	-1.0016	10	0.56958	D	0.05	-1.4344	15.0695	0.72024	0.0:0.1425:0.8575:0.0	.	197;579;579;579	Q59H44;O60449-3;O60449;O60449-2	.;.;LY75_HUMAN;.	W	579	ENSP00000451511:R579W;ENSP00000451446:R579W;ENSP00000263636:R579W;ENSP00000423463:R579W;ENSP00000421035:R579W	ENSP00000423463:R579W	R	-	1	2	LY75;LY75-CD302	160443120	0.001000	0.12720	0.292000	0.24919	0.196000	0.23810	0.425000	0.21346	2.756000	0.94617	0.561000	0.74099	CGG	LY75	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000054219		0.423	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	67	0	G			160734874	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.120	A	A	160734874	G	A	160734874	3	1	73	1	0	0	0	0	1	0	0	0	9135	1086	38	1	3533	1	LY75	2	160734874	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	8268291	160734874	82464499	32	19471											
HOXD4	3233	genome.wustl.edu	37	chr2	177016482	177016482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactactacggcggcggcGcgcagggcgcagacttccag	7	4	15	15	7	0	1	0	0	0	1	1	2	1	1	2	4	2	2	2	4	2	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:177016482G>A	ENST00000306324.3	+	1	533	c.121G>A	c.(121-123)Gcg>Acg	p.A41T	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	41					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGGCGGCGGCGCGCAGGGCGC	0.701																																																	0													20	23	22					2																	177016482		2181	4221	6402	SO:0001583	missense	0				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"Homeoboxes / ANTP class : HOXL subclass"	5138	protein-coding gene	gene with protein product		142981	"homeo box D4"	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.121G>A	2.37:g.177016482G>A	ENSP00000302548:p.Ala41Thr		B2R9R3|Q96AU0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.A41T	ENST00000306324.3	37	c.121	CCDS2269.1	2	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.365669	0.01235	.	.	ENSG00000170166	ENST00000306324	T	0.76448	-1.02	3.33	1.52	0.23074	.	2.985940	0.01711	N	0.027759	T	0.69151	0.3079	L	0.33137	0.985	0.09310	N	1	B	0.22346	0.068	B	0.12156	0.007	T	0.52852	-0.8520	10	0.39692	T	0.17	.	7.5613	0.27853	0.2239:0.0:0.7761:0.0	.	41	P09016	HXD4_HUMAN	T	41	ENSP00000302548:A41T	ENSP00000302548:A41T	A	+	1	0	HOXD4	176724728	1.000000	0.71417	0.001000	0.08648	0.165000	0.22458	1.046000	0.30354	0.409000	0.25649	-0.258000	0.10820	GCG	HOXD4	-	NULL	ENSG00000170166		0.701	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	-	0	117	0	G			177016482	1	tier1	-	no_errors	ENST00000306324	ensembl	human	known	74_37	missense	11.11	87	11	SNP	0.064	A	A	177016482	G	A	177016482	3	1	73	1	0	0	0	0	1	0	0	0	7351	1087	38	1	123	1	HOXD4	2	177016482	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	16281608	177016482	66182891	33	19472											
TTN	7273	genome.wustl.edu	37	chr2	179434879	179434879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccaccatcagatgctggtCtttcccatacaacaatcatt	12	12	4	13	0	3	1	2	0	1	1	4	1	4	1	3	1	4	1	3	1	4	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:179434879C>T	ENST00000591111.1	-	276	71281	c.71057G>A	c.(71056-71058)aGa>aAa	p.R23686K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16262K|TTN_ENST00000359218.5_Missense_Mutation_p.R16387K|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16454K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22759K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25327K|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23686	Fibronectin type-III 72. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGCTGGTCTTTCCCATAC	0.433																																																	0													160	148	152					2																	179434879		1942	4152	6094	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71057G>A	2.37:g.179434879C>T	ENSP00000465570:p.Arg23686Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R22759K	ENST00000591111.1	37	c.68276		2	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681697	0.47991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.87	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58206	0.2106	L	0.48986	1.54	0.40833	D	0.983602	P;P;P;P	0.45634	0.863;0.863;0.863;0.773	P;P;P;P	0.48227	0.571;0.571;0.571;0.474	T	0.64512	-0.6390	9	0.87932	D	0	.	17.2695	0.87097	0.0:0.8747:0.1253:0.0	.	16262;16387;16454;23686	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22759;16262;16454;16387;16260	ENSP00000343764:R22759K;ENSP00000434586:R16262K;ENSP00000340554:R16454K;ENSP00000352154:R16387K	ENSP00000340554:R16454K	R	-	2	0	TTN	179143125	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	4.872000	0.63050	1.455000	0.47813	0.650000	0.86243	AGA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	40	0	C	NM_133378		179434879	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	T	T	179434879	C	T	179434879	3	4	73	1	0	0	0	0	1	0	0	0	16784	913	32	3	32147	3	TTN	2	179434879	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	2418397	179434879	63764494	34	19473											
TTN	7273	genome.wustl.edu	37	chr2	179593369	179593369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactcattgaaaagtatctActgggaactatttgtttccc	13	14	6	8	0	2	1	1	1	1	0	3	2	3	2	1	1	3	2	1	1	7	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:179593369A>T	ENST00000591111.1	-	64	18557	c.18333T>A	c.(18331-18333)agT>agA	p.S6111R	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5184R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S6428R			Q8WZ42	TITIN_HUMAN	titin	12898	Ig-like 42.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAGTATCTACTGGGAACTA	0.408																																																	0													86	76	79					2																	179593369		1834	4105	5939	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.18333T>A	2.37:g.179593369A>T	ENSP00000465570:p.Ser6111Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S5184R	ENST00000591111.1	37	c.15552		2	.	.	.	.	.	.	.	.	.	.	A	8.742	0.919264	0.17982	.	.	ENSG00000155657	ENST00000342992	T	0.49432	0.78	5.63	-1.05	0.10036	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62270	0.2414	M	0.67517	2.055	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.63906	-0.6531	9	0.87932	D	0	.	12.5314	0.56117	0.5205:0.0:0.4795:0.0	.	6111	Q8WZ42	TITIN_HUMAN	R	5184	ENSP00000343764:S5184R	ENSP00000343764:S5184R	S	-	3	2	TTN	179301614	0.995000	0.38212	0.987000	0.45799	0.850000	0.48378	0.879000	0.28146	-0.316000	0.08690	-0.408000	0.06270	AGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	51	0	A	NM_133378		179593369	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.993	T	T	179593369	A	T	179593369	3	4	73	1	0	0	0	0	1	0	0	0	16784	388	14	5	85433	5	TTN	2	179593369	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	158490	179593369	63606004	35	19474											
GTF3C3	9330	genome.wustl.edu	37	chr2	197643772	197643772	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcttcaggattctgttctActagtgttgtcaagagaggc	9	15	10	7	0	5	1	2	0	3	1	5	3	5	2	0	2	1	2	0	2	4	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:197643772A>C	ENST00000263956.3	-	10	1327	c.1238T>G	c.(1237-1239)gTa>gGa	p.V413G		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	413				LV -> HL (in Ref. 6; AAH15995). {ECO:0000305}.	5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATTCTGTTCTACTAGTGTTGT	0.383																																																	0													104	106	105					2																	197643772		2203	4300	6503	SO:0001583	missense	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1238T>G	2.37:g.197643772A>C	ENSP00000263956:p.Val413Gly		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V413G	ENST00000263956.3	37	c.1238	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034780	0.54896	.	.	ENSG00000119041	ENST00000263956;ENST00000448087	T	0.44083	0.93	4.66	4.66	0.58398	Tetratricopeptide-like helical (1);	0.059444	0.64402	D	0.000003	T	0.27063	0.0663	N	0.22421	0.69	0.80722	D	1	B	0.33379	0.41	B	0.23852	0.049	T	0.08046	-1.0741	10	0.30078	T	0.28	-24.4038	14.531	0.67926	1.0:0.0:0.0:0.0	.	413	Q9Y5Q9	TF3C3_HUMAN	G	413;98	ENSP00000263956:V413G	ENSP00000263956:V413G	V	-	2	0	GTF3C3	197352017	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.926000	0.75835	2.076000	0.62316	0.528000	0.53228	GTA	GTF3C3	-	NULL	ENSG00000119041		0.383	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	-	0	97	0	A			197643772	-1	tier1	-	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	26.27	87	31	SNP	1.000	C	C	197643772	A	C	197643772	3	2	73	1	0	0	0	0	1	0	0	0	6901	391	14	4	1458	4	GTF3C3	2	197643772	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	18050403	197643772	45555601	36	19475											
WDFY1	57590	genome.wustl.edu	37	chr2	224746742	224746742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgggtaacttgagcgcttGctgctgcacttcccgcagac	7	10	11	13	2	0	2	0	1	0	1	1	2	1	2	1	1	5	6	1	1	1	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr2:224746742G>C	ENST00000233055.4	-	10	1083	c.981C>G	c.(979-981)agC>agG	p.S327R		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	327						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TTGAGCGCTTGCTGCTGCACT	0.502																																																	0													194	200	198					2																	224746742		2203	4300	6503	SO:0001583	missense	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.981C>G	2.37:g.224746742G>C	ENSP00000233055:p.Ser327Arg		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S327R	ENST00000233055.4	37	c.981	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386745	0.42308	.	.	ENSG00000085449	ENST00000233055	T	0.72942	-0.7	5.9	5.01	0.66863	Zinc finger, RING/FYVE/PHD-type (1);WD40 repeat-like-containing domain (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.091974	0.85682	D	0.000000	T	0.67239	0.2872	L	0.53561	1.675	0.58432	D	0.999991	P	0.42518	0.782	B	0.43867	0.434	T	0.63941	-0.6523	10	0.28530	T	0.3	-31.3349	11.7305	0.51735	0.1334:0.0:0.8666:0.0	.	327	Q8IWB7	WDFY1_HUMAN	R	327	ENSP00000233055:S327R	ENSP00000233055:S327R	S	-	3	2	WDFY1	224454986	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.575000	0.36493	2.788000	0.95919	0.650000	0.86243	AGC	WDFY1	-	pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000085449		0.502	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	-	0	47	0	G	NM_020830		224746742	-1	tier1	-	no_errors	ENST00000233055	ensembl	human	known	74_37	missense	48.98	25	24	SNP	1.000	C	C	224746742	G	C	224746742	3	2	73	1	0	0	0	0	1	0	0	0	17317	1310	46	5	263	5	WDFY1	2	224746742	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	27102970	224746742	18452631	37	19476											
TSEN2	80746	genome.wustl.edu	37	chr3	12544842	12544842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcgcagaatcctcaaGgattacacgaaaccgcttga	14	7	9	11	3	1	2	1	1	0	1	2	4	2	3	2	1	3	2	2	1	4	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:12544842G>T	ENST00000284995.6	+	5	777	c.390G>T	c.(388-390)aaG>aaT	p.K130N	RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000454502.2_Missense_Mutation_p.K130N|TSEN2_ENST00000383797.5_Missense_Mutation_p.K130N|TSEN2_ENST00000415684.1_Missense_Mutation_p.K130N|TSEN2_ENST00000314571.7_Missense_Mutation_p.K130N|TSEN2_ENST00000402228.3_Missense_Mutation_p.K130N|TSEN2_ENST00000444864.1_Missense_Mutation_p.K130N	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	130					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GAATCCTCAAGGATTACACGA	0.488																																																	0													115	105	108					3																	12544842		2203	4300	6503	SO:0001583	missense	0			BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"tRNA splicing endonuclease subunits"	28422	protein-coding gene	gene with protein product		608753	"tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)", "tRNA splicing endonuclease 2 homolog (S. cerevisiae)"			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.390G>T	3.37:g.12544842G>T	ENSP00000284995:p.Lys130Asn		B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2	p.K130N	ENST00000284995.6	37	c.390	CCDS2611.1	3	.	.	.	.	.	.	.	.	.	.	G	9.913	1.210080	0.22289	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.55588	0.52;0.51;0.52;0.51;0.52;0.52;0.51;0.51	4.92	1.84	0.25277	.	0.732688	0.13155	N	0.409576	T	0.29491	0.0735	N	0.08118	0	0.09310	N	1	B;B;B;B	0.32010	0.351;0.145;0.202;0.042	B;B;B;B	0.32465	0.146;0.048;0.104;0.048	T	0.15809	-1.0424	10	0.34782	T	0.22	-5.3814	7.4449	0.27205	0.3129:0.0:0.6871:0.0	.	130;130;130;130	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	N	130;130;130;130;130;130;130;103;130	ENSP00000406238:K130N;ENSP00000323188:K130N;ENSP00000392029:K130N;ENSP00000373307:K130N;ENSP00000385976:K130N;ENSP00000284995:K130N;ENSP00000407974:K130N;ENSP00000416510:K130N	ENSP00000284995:K130N	K	+	3	2	TSEN2	12519842	0.587000	0.26791	0.011000	0.14972	0.086000	0.17979	0.533000	0.23082	0.120000	0.18254	0.609000	0.83330	AAG	TSEN2	-	pirsf_tRNA_splic_SEN2	ENSG00000154743		0.488	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN2	HGNC	protein_coding	OTTHUMT00000251981.1	-	0	61	0	G	NM_025265		12544842	1	tier1	-	no_errors	ENST00000284995	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.199	T	T	12544842	G	T	12544842	3	4	73	1	0	0	0	0	1	0	0	0	16660	991	35	3	404	3	TSEN2	3	12544842	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		12544842	185477588	38	19477											
FBXL2	25827	genome.wustl.edu	37	chr3	33406164	33406164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgatgcggtggattcctgagGaagctcagcttgcgaggctg	7	9	16	9	3	1	1	1	1	0	0	2	5	2	3	1	4	4	3	1	4	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:33406164G>A	ENST00000484457.1	+	5	334	c.243G>A	c.(241-243)agG>agA	p.R81R	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538892.1_Silent_p.R81R|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.R81R|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GATTCCTGAGGAAGCTCAGCT	0.453																																																	0													214	190	198					3																	33406164		2203	4300	6503	SO:0001819	synonymous_variant	0			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"F-boxes / Leucine-rich repeats"	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.243G>A	3.37:g.33406164G>A				Silent	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R81	ENST00000484457.1	37	c.243	CCDS2658.1	3																																																																																			FBXL2	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000153558		0.453	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL2	HGNC	protein_coding	OTTHUMT00000253245.2	-	0	89	0	G	NM_012157		33406164	1	tier1	-	no_errors	ENST00000484457	ensembl	human	known	74_37	silent	49.44	45	44	SNP	1.000	A	A	33406164	G	A	33406164	2	1	73	1	0	0	0	0	0	0	0	1	5738	1165	41	3		3	FBXL2	3	33406164	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	20861322	33406164	164616266	39	19478											
DLEC1	9940	genome.wustl.edu	37	chr3	38138760	38138760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtggagcccggcacagggGtcataggtaccttggggact	9	7	16	9	1	1	0	1	0	0	0	1	2	1	2	2	7	2	2	2	7	3	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:38138760G>T	ENST00000308059.6	+	16	2449	c.2428G>T	c.(2428-2430)Gtc>Ttc	p.V810F	DLEC1_ENST00000452631.2_Missense_Mutation_p.V810F|DLEC1_ENST00000346219.3_Missense_Mutation_p.V810F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGGCACAGGGGTCATAGGTAC	0.552																																																	0																																										SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2428G>T	3.37:g.38138760G>T	ENSP00000308597:p.Val810Phe			Missense_Mutation	SNP	superfamily_PapD-like	p.V810F	ENST00000308059.6	37	c.2428	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690915	0.15039	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05996	3.38;3.36;3.61	4.68	0.33	0.15929	.	1.280920	0.05354	N	0.532401	T	0.06005	0.0156	L	0.36672	1.1	0.26466	N	0.975368	B;B;B	0.28760	0.054;0.221;0.054	B;B;B	0.19666	0.026;0.023;0.026	T	0.44034	-0.9354	10	0.25751	T	0.34	-4.5739	8.6993	0.34316	0.7491:0.0:0.2509:0.0	.	810;810;810	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	F	810	ENSP00000308597:V810F;ENSP00000315914:V810F;ENSP00000410427:V810F	ENSP00000308597:V810F	V	+	1	0	DLEC1	38113764	0.000000	0.05858	0.853000	0.33588	0.835000	0.47333	0.025000	0.13577	0.062000	0.16340	0.655000	0.94253	GTC	DLEC1	-	superfamily_PapD-like	ENSG00000008226		0.552	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0	104	0	G	NM_007337		38138760	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.395	T	T	38138760	G	T	38138760	3	4	73	1	0	0	0	0	1	0	0	0	4566	1261	44	3	2490	3	DLEC1	3	38138760	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	4732596	38138760	159883670	40	19479											
LARS2	23395	genome.wustl.edu	37	chr3	45588891	45588891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccccaacaagttgccCgggaccaggacaaagtccac	11	5	10	15	1	0	0	0	0	0	0	1	2	1	2	5	2	3	1	5	2	3	1	rs556149785		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:45588891C>G	ENST00000415258.1	+	21	2722	c.2581C>G	c.(2581-2583)Cgg>Ggg	p.R861G	LARS2_ENST00000265537.3_Missense_Mutation_p.R861G|LARS2_ENST00000414984.1_Missense_Mutation_p.R818G			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	861					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACAAGTTGCCCGGGACCAGGA	0.478																																																	0													74	76	76					3																	45588891		2203	4300	6503	SO:0001583	missense	0			AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	17095	protein-coding gene	gene with protein product	"leucine tRNA ligase 2, mitochondrial"	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2581C>G	3.37:g.45588891C>G	ENSP00000408576:p.Arg861Gly			Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-ligase_bac/mito,tigrfam_Leu-tRNA-ligase_bac/mito	p.R861G	ENST00000415258.1	37	c.2581	CCDS2728.1	3	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654878	0.47467	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.22743	1.94;1.94;1.94	5.6	4.71	0.59529	.	0.589252	0.18404	N	0.142264	T	0.27731	0.0682	M	0.68317	2.08	0.27820	N	0.941836	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.15578	-1.0432	10	0.59425	D	0.04	-9.632	16.327	0.82987	0.0:0.8676:0.1324:0.0	.	818;861	E9PHM2;Q15031	.;SYLM_HUMAN	G	861;861;818	ENSP00000265537:R861G;ENSP00000408576:R861G;ENSP00000412893:R818G	ENSP00000265537:R861G	R	+	1	2	LARS2	45563895	0.127000	0.22367	0.538000	0.28064	0.936000	0.57629	1.067000	0.30616	1.321000	0.45227	0.655000	0.94253	CGG	LARS2	-	tigrfam_Leu-tRNA-ligase_bac/mito	ENSG00000011376		0.478	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LARS2	HGNC	protein_coding	OTTHUMT00000345001.1	-	0	79	0	C	NM_015340		45588891	1	tier1	-	no_errors	ENST00000265537	ensembl	human	known	74_37	missense	56.86	22	29	SNP	0.989	G	G	45588891	C	G	45588891	3	3	73	1	0	0	0	0	1	0	0	0	8663	643	23	5	2659	5	LARS2	3	45588891	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	7450131	45588891	152433539	41	19480											
IGSF11	152404	genome.wustl.edu	37	chr3	118621687	118621687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtttctatgaacttttgGattgttgctccagtatcgac	7	18	9	7	1	1	1	0	1	1	0	3	3	2	2	1	1	2	4	1	1	3	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:118621687G>T	ENST00000393775.2	-	7	1281	c.976C>A	c.(976-978)Cca>Aca	p.P326T	IGSF11_ENST00000489689.1_Missense_Mutation_p.P302T|IGSF11_ENST00000354673.2_Missense_Mutation_p.P325T|IGSF11_ENST00000441144.2_Missense_Mutation_p.P301T|IGSF11_ENST00000491903.1_Missense_Mutation_p.P298T|IGSF11_ENST00000425327.2_Missense_Mutation_p.P325T	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	326					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACTTTTGGATTGTTGCTC	0.448																																																	0													139	145	143					3																	118621687		2203	4300	6503	SO:0001583	missense	0			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"Immunoglobulin superfamily / I-set domain containing"	16669	protein-coding gene	gene with protein product	"cancer/testis antigen 119"	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.976C>A	3.37:g.118621687G>T	ENSP00000377370:p.Pro326Thr		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P326T	ENST00000393775.2	37	c.976	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044412	0.36085	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.86627	-1.16;-1.38;-2.13;-1.16;-2.15;-2.01	5.28	3.44	0.39384	.	0.201680	0.49305	N	0.000141	T	0.76608	0.4011	N	0.24115	0.695	0.54753	D	0.999989	B;B;B;B;B	0.22800	0.022;0.075;0.031;0.045;0.045	B;B;B;B;B	0.20184	0.005;0.028;0.028;0.012;0.012	T	0.69636	-0.5092	10	0.49607	T	0.09	.	7.5214	0.27631	0.0764:0.0:0.6314:0.2923	.	298;301;325;302;326	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	T	325;326;302;325;301;298	ENSP00000406092:P325T;ENSP00000377370:P326T;ENSP00000420486:P302T;ENSP00000346700:P325T;ENSP00000401240:P301T;ENSP00000417413:P298T	ENSP00000346700:P325T	P	-	1	0	IGSF11	120104377	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	3.798000	0.55522	0.761000	0.33130	0.655000	0.94253	CCA	IGSF11	-	NULL	ENSG00000144847		0.448	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	-	0	56	0	G			118621687	-1	tier1	-	no_errors	ENST00000393775	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	T	T	118621687	G	T	118621687	3	4	73	1	0	0	0	0	1	0	0	0	7625	1174	41	3	323	3	IGSF11	3	118621687	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	73032796	118621687	79400743	42	19481											
CCDC48	79825	genome.wustl.edu	37	chr3	128753059	128753059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttactttggtcacttcggcGgtgccaaccatgcccatacc	7	11	8	15	2	1	0	1	0	0	0	2	0	1	0	4	3	5	0	4	3	3	4	rs567338824		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:128753059G>A	ENST00000480450.1	+	5	1336	c.1336G>A	c.(1336-1338)Ggt>Agt	p.G446S	EFCC1_ENST00000436022.2_Missense_Mutation_p.G9S			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	446							calcium ion binding (GO:0005509)										TCACTTCGGCGGTGCCAACCA	0.637													G|||	1	0.000199681	0	0	5008	,	,		17497	0		0	False		,,,				2504	0.001																0													91	87	88					3																	128753059		2203	4300	6503	SO:0001583	missense	0			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"EF-hand domain containing"	25692	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 73", "coiled-coil domain containing 48"	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1336G>A	3.37:g.128753059G>A	ENSP00000420075:p.Gly446Ser		A8MYE2	Missense_Mutation	SNP	NULL	p.G9S	ENST00000480450.1	37	c.25	CCDS3054.2	3	.	.	.	.	.	.	.	.	.	.	G	3.099	-0.185095	0.06340	.	.	ENSG00000114654	ENST00000480450;ENST00000436022	T;T	0.40225	1.08;1.04	4.47	-6.32	0.01995	.	1.493250	0.04107	N	0.313955	T	0.22282	0.0537	N	0.26042	0.785	0.09310	N	1	B	0.27117	0.168	B	0.20955	0.032	T	0.20207	-1.0282	10	0.07644	T	0.81	.	7.2567	0.26181	0.3134:0.1346:0.552:0.0	.	446	Q9HA90	CCD48_HUMAN	S	446;9	ENSP00000420075:G446S;ENSP00000414597:G9S	ENSP00000414597:G9S	G	+	1	0	CCDC48	130235749	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.250000	0.18235	-1.407000	0.02043	0.313000	0.20887	GGT	EFCC1	-	NULL	ENSG00000114654		0.637	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	EFCC1	HGNC	protein_coding	OTTHUMT00000352832.1	-	0	61	0	G	NM_024768		128753059	1	tier1	-	no_errors	ENST00000436022	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.000	A	A	128753059	G	A	128753059	3	1	73	1	0	0	0	0	1	0	0	0	2826	1116	39	1	1354	1	CCDC48	3	128753059	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	10131372	128753059	69269371	43	19482											
PCOLCE2	26577	genome.wustl.edu	37	chr3	142561781	142561781	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacctgattctttggggcTacaatgtgccacacacaagt	10	11	8	12	0	2	1	1	1	1	0	2	1	2	1	2	2	2	1	2	2	3	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:142561781T>A	ENST00000295992.3	-	4	864	c.558A>T	c.(556-558)gtA>gtT	p.V186V	PCOLCE2_ENST00000485766.1_Silent_p.V186V	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	186	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TCTTTGGGGCTACAATGTGCC	0.532																																																	0													85	79	81					3																	142561781		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.558A>T	3.37:g.142561781T>A			B2RCH9|D3DNG4|Q9BRH3	Silent	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.V186	ENST00000295992.3	37	c.558	CCDS3127.1	3																																																																																			PCOLCE2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000163710		0.532	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	-	0	63	0	T	NM_013363		142561781	-1	tier1	-	no_errors	ENST00000295992	ensembl	human	known	74_37	silent	20.99	64	17	SNP	0.992	A	A	142561781	T	A	142561781	2	1	73	1	0	0	0	0	0	0	0	1	11634	1509	53	5		5	PCOLCE2	3	142561781	Silent	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	13808722	142561781	55460649	44	19483											
C3orf79	152118	genome.wustl.edu	37	chr3	153203846	153203846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaattttatatgggcacCctgccactcttctaaaagac	11	12	6	12	0	2	1	0	0	2	1	2	1	2	1	3	1	2	1	3	1	5	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:153203846C>A	ENST00000446603.2	+	2	237	c.175C>A	c.(175-177)Cct>Act	p.P59T	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	59										endometrium(1)|large_intestine(3)	4						atatgggcaccctgccactct	0.368																																																	0													48	45	46					3																	153203846		1812	4074	5886	SO:0001583	missense	0			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.175C>A	3.37:g.153203846C>A	ENSP00000389475:p.Pro59Thr			Missense_Mutation	SNP	NULL	p.P59T	ENST00000446603.2	37	c.175	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	C	7.879	0.729890	0.15507	.	.	ENSG00000237787	ENST00000446603	.	.	.	2.38	-1.43	0.08884	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.23190	-1.0195	8	0.87932	D	0	.	7.9249	0.29867	0.3487:0.6513:0.0:0.0	.	59	P0CE67	CC079_HUMAN	T	59	.	ENSP00000389475:P59T	P	+	1	0	C3orf79	154686536	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	0.455000	0.21843	-0.288000	0.09051	-0.516000	0.04426	CCT	C3orf79	-	NULL	ENSG00000237787		0.368	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	HGNC	protein_coding	OTTHUMT00000356570.1	-	0	68	0	C	NM_001101337		153203846	1	tier1	-	no_errors	ENST00000446603	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.001	A	A	153203846	C	A	153203846	3	1	73	1	0	0	0	0	1	0	0	0	2253	623	22	3	181	3	C3orf79	3	153203846	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	10642065	153203846	44818584	45	19484											
PLCH1	23007	genome.wustl.edu	37	chr3	155198837	155198837	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagaattatctgaacaaaActggtcaacgtggccatagt	16	9	8	8	1	2	2	1	1	1	1	2	2	2	2	1	2	4	0	1	2	8	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:155198837A>T	ENST00000340059.7	-	23	5001	c.5002T>A	c.(5002-5004)Ttt>Att	p.F1668I	PLCH1_ENST00000460012.1_Missense_Mutation_p.F1630I|PLCH1_ENST00000334686.6_Missense_Mutation_p.F1630I|PLCH1_ENST00000414191.1_Missense_Mutation_p.F1630I|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1668					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTGAACAAAACTGGTCAACG	0.463																																																	0													44	48	46					3																	155198837		2203	4300	6503	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.5002T>A	3.37:g.155198837A>T	ENSP00000345988:p.Phe1668Ile		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.F1668I	ENST00000340059.7	37	c.5002	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	A	8.309	0.821742	0.16678	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.26	-0.0536	0.13817	.	2.179030	0.01588	N	0.021398	T	0.19046	0.0457	L	0.28740	0.885	0.09310	N	0.999999	B;B	0.23377	0.084;0.024	B;B	0.21917	0.037;0.007	T	0.14254	-1.0479	10	0.25106	T	0.35	.	5.3051	0.15799	0.477:0.0:0.3849:0.1381	.	1630;1668	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	I	1630;1668;1630;1630	ENSP00000417502:F1630I;ENSP00000345988:F1668I;ENSP00000335469:F1630I;ENSP00000412977:F1630I	ENSP00000335469:F1630I	F	-	1	0	PLCH1	156681531	0.402000	0.25311	0.007000	0.13788	0.389000	0.30415	3.106000	0.50322	0.037000	0.15575	-0.250000	0.11733	TTT	PLCH1	-	NULL	ENSG00000114805		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	-	0	80	0	A	NM_014996		155198837	-1	tier1	-	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	17.54	47	10	SNP	0.049	T	T	155198837	A	T	155198837	3	4	73	1	0	0	0	0	1	0	0	0	12076	43	2	5	83	5	PLCH1	3	155198837	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	1994991	155198837	42823593	46	19485											
DLG1	1739	genome.wustl.edu	37	chr3	196857506	196857506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaaggcagttactgcttCttcatgagtaacttcttcta	9	17	6	9	0	4	1	1	1	3	0	4	1	4	1	0	1	3	4	0	1	4	9			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr3:196857506C>T	ENST00000419354.1	-	12	1442	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	DLG1_ENST00000452595.1_Missense_Mutation_p.E270K|DLG1_ENST00000422288.1_Missense_Mutation_p.E335K|DLG1_ENST00000314062.3_Missense_Mutation_p.E335K|DLG1_ENST00000443183.1_Missense_Mutation_p.E270K|DLG1_ENST00000357674.4_Missense_Mutation_p.E353K|DLG1_ENST00000448528.2_Missense_Mutation_p.E386K|DLG1_ENST00000450955.1_Missense_Mutation_p.E353K|DLG1_ENST00000346964.2_Missense_Mutation_p.E386K|DLG1_ENST00000392382.2_Missense_Mutation_p.E353K			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	386	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTACTGCTTCTTCATGAGTA	0.333																																																	0													143	129	134					3																	196857506		2203	4300	6503	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1156G>A	3.37:g.196857506C>T	ENSP00000407531:p.Glu386Lys		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E386K	ENST00000419354.1	37	c.1156	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.299391	0.95574	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.124257	0.53938	D	0.000049	T	0.40815	0.1132	L	0.58428	1.81	0.58432	D	0.999999	P;P;P;P;P;P;P	0.45768	0.614;0.661;0.866;0.866;0.609;0.686;0.609	B;P;P;P;B;P;B	0.55923	0.341;0.708;0.601;0.601;0.381;0.787;0.287	T	0.06679	-1.0813	10	0.62326	D	0.03	.	18.7045	0.91632	0.0:1.0:0.0:0.0	.	353;270;270;270;353;386;386	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	K	386;386;353;386;335;386;270;335;386;270;353;353;195	ENSP00000345731:E386K;ENSP00000350303:E353K;ENSP00000321087:E335K;ENSP00000407531:E386K;ENSP00000398939:E270K;ENSP00000413238:E335K;ENSP00000391732:E386K;ENSP00000396658:E270K;ENSP00000376187:E353K;ENSP00000411278:E353K;ENSP00000398702:E195K	ENSP00000321087:E335K	E	-	1	0	DLG1	198341903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.397000	0.44477	2.667000	0.90743	0.455000	0.32223	GAA	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.333	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	-	0	55	0	C	NM_004087		196857506	-1	tier1	-	no_errors	ENST00000346964	ensembl	human	known	74_37	missense	48.39	32	30	SNP	1.000	T	T	196857506	C	T	196857506	3	4	73	1	0	0	0	0	1	0	0	0	4568	922	32	3	1722	3	DLG1	3	196857506	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	41658669	196857506	1164924	47	19486											
FGFRL1	53834	genome.wustl.edu	37	chr4	1019076	1019076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacacacacacacacTctcacacacactcacacgtg	16	4	2	19	1	2	0	2	0	1	0	3	0	2	0	0	0	0	0	0	0	0	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:1019076T>A	ENST00000398484.2	+	8	2036	c.1456T>A	c.(1456-1458)Tct>Act	p.S486T	FGFRL1_ENST00000510644.1_Missense_Mutation_p.S486T|FGFRL1_ENST00000264748.6_Missense_Mutation_p.S486T|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S486T|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	486	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacacacactctcacacaca	0.607																																																	0													12	14	14					4																	1019076		2173	4279	6452	SO:0001583	missense	0				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"Immunoglobulin superfamily / I-set domain containing"	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1456T>A	4.37:g.1019076T>A	ENSP00000381498:p.Ser486Thr		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S486T	ENST00000398484.2	37	c.1456	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	T	0.310	-0.968479	0.02232	.	.	ENSG00000127418	ENST00000398484;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	1.78	0.515	0.17013	.	.	.	.	.	T	0.42899	0.1223	N	0.14661	0.345	0.09310	N	0.999997	B	0.06786	0.001	B	0.04013	0.001	T	0.31138	-0.9954	9	0.02654	T	1	.	4.5384	0.12045	0.0:0.0:0.3755:0.6245	.	486	Q8N441	FGRL1_HUMAN	T	486	ENSP00000381498:S486T;ENSP00000425025:S486T;ENSP00000423091:S486T;ENSP00000264748:S486T	ENSP00000264748:S486T	S	+	1	0	FGFRL1	1009076	0.829000	0.29322	0.929000	0.37066	0.972000	0.66771	0.130000	0.15850	0.140000	0.18849	0.460000	0.39030	TCT	FGFRL1	-	NULL	ENSG00000127418		0.607	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2		0	31	0	T	NM_021923		1019076	1			no_errors	ENST00000264748	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.992	A	A	1019076	T	A	1019076	3	1	73	1	0	0	0	0	1	0	0	0	5891	1551	54	5	1478	5	FGFRL1	4	1019076	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09		1019076	190135200	48	19487											
NAT8L	339983	genome.wustl.edu	37	chr4	2065507	2065507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcttctgggtggccGtgctggatggcaacgtggtg	3	11	17	10	2	1	0	0	0	1	0	2	1	2	1	2	5	3	4	2	5	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:2065507G>A	ENST00000423729.2	+	3	562	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	NAT8L_ENST00000331662.3_Missense_Mutation_p.V20M	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	188	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)	p.V20M(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGGGTGGCCGTGCTGGATGG	0.667																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											63	55	58					4																	2065507		2203	4299	6502	SO:0001583	missense	0			AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.562G>A	4.37:g.2065507G>A	ENSP00000413064:p.Val188Met			Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V188M	ENST00000423729.2	37	c.562	CCDS3359.2	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542498	0.85917	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.32515	1.45;1.46	5.54	5.54	0.83059	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.084010	0.47852	U	0.000217	T	0.47192	0.1432	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33189	-0.9878	10	0.44086	T	0.13	-0.0025	19.0909	0.93227	0.0:0.0:1.0:0.0	.	188	Q8N9F0	NAT8L_HUMAN	M	188;20	ENSP00000413064:V188M;ENSP00000328464:V20M	ENSP00000328464:V20M	V	+	1	0	NAT8L	2035305	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.553000	0.67287	2.604000	0.88044	0.450000	0.29827	GTG	NAT8L	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000185818		0.667	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8L	HGNC	protein_coding		-	0	67	0	G	NM_178557		2065507	1	tier1	-	no_errors	ENST00000423729	ensembl	human	known	74_37	missense	56.00	21	28	SNP	1.000	A	A	2065507	G	A	2065507	3	1	73	1	0	0	0	0	1	0	0	0	10219	1145	40	1	572	1	NAT8L	4	2065507	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1046431	2065507	189088769	49	19488											
MAN2B2	23324	genome.wustl.edu	37	chr4	6577022	6577023	+	Frame_Shift_Ins	INS	-	-	A																															gtccgccggccccatccgggINSccttcgtggtgccccacagc																								rs201835883	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:6577022_6577023insA	ENST00000285599.3	+	1	121_122	c.85_86insA	c.(85-87)gccfs	p.A29fs	MAN2B2_ENST00000504248.1_Frame_Shift_Ins_p.A29fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	29					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCCCATCCGGGCCTTCGTGGTG	0.728																																																	0																																										SO:0001589	frameshift_variant	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	Exception_encountered	4.37:g.6577022_6577023insA	ENSP00000285599:p.Ala29fs		Q66MP2|Q86T67	Frame_Shift_Ins	INS	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.A29fs	ENST00000285599.3	37	c.85_86	CCDS33951.1	4																																																																																			MAN2B2	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.728	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2		0	9	0	-	NM_015274		6577023	1	tier1		no_errors	ENST00000285599	ensembl	human	known	74_37	frame_shift_ins	33.33	4	2	INS	0.745:0.837	A	A	6577023	-	A	6577022	7	5	73	1	0	1	1	0	0	0	0	0	9255	1203	42	0	87	0	MAN2B2	4	6577022	Frame_Shift_Ins	INS	-	TCGA-L5-A88V-01A-11D-A351-09	4511515	6577022	184577254	50	19489											
TLR10	81793	genome.wustl.edu	37	chr4	38774956	38774956	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgggccattccaagtatgcTtttttttccaggagagcttt	7	17	9	8	0	0	1	0	0	0	1	2	2	2	1	3	2	2	3	3	2	2	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:38774956T>C	ENST00000308973.4	-	4	2861	c.2256A>G	c.(2254-2256)aaA>aaG	p.K752K	TLR10_ENST00000508334.1_Silent_p.K752K|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Silent_p.K752K|TLR10_ENST00000361424.2_Silent_p.K752K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	752	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCAAGTATGCTTTTTTTTCCA	0.388																																																	0													81	81	81					4																	38774956		2203	4300	6503	SO:0001819	synonymous_variant	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"CD molecules"	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2256A>G	4.37:g.38774956T>C			A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.K752	ENST00000308973.4	37	c.2256	CCDS3445.1	4																																																																																			TLR10	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000174123		0.388	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	-	0	121	0	T			38774956	-1	tier1	-	no_errors	ENST00000308973	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.718	C	C	38774956	T	C	38774956	2	2	73	1	0	0	0	0	0	0	0	1	15997	1606	56	4		4	TLR10	4	38774956	Silent	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	32197934	38774956	152379320	51	19490											
COL25A1	84570	genome.wustl.edu	37	chr4	110223107	110223107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgggcacaatgctgttcGgcaggggtcgggtcctcgga	5	8	17	11	4	0	0	0	0	0	0	5	1	2	1	2	6	1	4	2	6	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:110223107G>A	ENST00000399132.1	-	2	599	c.69C>T	c.(67-69)gcC>gcT	p.A23A	AC004051.2_ENST00000500526.1_lincRNA|COL25A1_ENST00000399126.1_Silent_p.A23A|COL25A1_ENST00000399127.1_Silent_p.A23A	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AATGCTGTTCGGCAGGGGTCG	0.672																																																	0													45	49	48					4																	110223107		1973	4157	6130	SO:0001819	synonymous_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.69C>T	4.37:g.110223107G>A				Silent	SNP	pfam_Collagen	p.A23	ENST00000399132.1	37	c.69	CCDS43258.1	4																																																																																			COL25A1	-	NULL	ENSG00000188517		0.672	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	-	0	117	0	G	NM_032518		110223107	-1	tier1	-	no_errors	ENST00000399132	ensembl	human	known	74_37	silent	18.00	82	18	SNP	0.000	A	A	110223107	G	A	110223107	2	1	73	1	0	0	0	0	0	0	0	1	3691	1103	39	1		1	COL25A1	4	110223107	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	71448151	110223107	80931169	52	19491											
ANK2	287	genome.wustl.edu	37	chr4	114278181	114278181	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactggtgatgatgttgatGaacagccagtcatctataaa	13	11	10	7	1	2	4	1	4	1	0	2	5	2	4	1	1	2	1	1	1	4	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:114278181G>T	ENST00000357077.4	+	38	8460	c.8407G>T	c.(8407-8409)Gaa>Taa	p.E2803*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E2770*	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2803					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.E2803K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGATGTTGATGAACAGCCAGT	0.463																																																	1	Substitution - Missense(1)	urinary_tract(1)											87	83	84					4																	114278181		2203	4300	6503	SO:0001587	stop_gained	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8407G>T	4.37:g.114278181G>T	ENSP00000349588:p.Glu2803*		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E2803*	ENST00000357077.4	37	c.8407	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	48	14.577568	0.99801	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	.	.	.	5.76	4.91	0.64330	.	0.727002	0.12672	N	0.448722	.	.	.	.	.	.	0.22112	N	0.999359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.05	0.25067	0.2401:0.0:0.7599:0.0	.	.	.	.	X	2803;2770	.	.	E	+	1	0	ANK2	114497630	0.608000	0.26966	0.022000	0.16811	0.079000	0.17450	1.834000	0.39171	1.402000	0.46780	0.655000	0.94253	GAA	ANK2	-	NULL	ENSG00000145362		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0	28	0	G	NM_001148		114278181	1			no_errors	ENST00000357077	ensembl	human	known	74_37	nonsense	7.14	25	2	SNP	0.004	T	T	114278181	G	T	114278181	4	4	73	1	0	0	0	0	0	1	0	0	621	1291	45	3	8622	3	ANK2	4	114278181	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	4055074	114278181	76876095	53	19492											
ANKRD50	57182	genome.wustl.edu	37	chr4	125592765	125592765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattgactacatcaagactgCcactatatgcagcattagcc	14	10	6	11	0	1	2	1	1	0	1	1	2	1	2	2	0	5	2	2	0	6	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:125592765C>T	ENST00000504087.1	-	4	2704	c.1667G>A	c.(1666-1668)gGc>gAc	p.G556D	ANKRD50_ENST00000515641.1_Missense_Mutation_p.G377D	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	556										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATCAAGACTGCCACTATATGC	0.413																																																	0													115	108	110					4																	125592765		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1667G>A	4.37:g.125592765C>T	ENSP00000425658:p.Gly556Asp		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G556D	ENST00000504087.1	37	c.1667	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835828	0.71373	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.72394	-0.57;-0.65	4.98	4.98	0.66077	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84384	0.0551	10	0.72032	D	0.01	.	18.4479	0.90691	0.0:1.0:0.0:0.0	.	556	Q9ULJ7	ANR50_HUMAN	D	556;377	ENSP00000425658:G556D;ENSP00000425355:G377D	ENSP00000425658:G556D	G	-	2	0	ANKRD50	125812215	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.164000	0.77533	2.590000	0.87494	0.555000	0.69702	GGC	ANKRD50	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.413	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0	55	0	C	NM_020337		125592765	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T	T	125592765	C	T	125592765	3	4	73	1	0	0	0	0	1	0	0	0	677	739	26	3	2626	3	ANKRD50	4	125592765	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	11314584	125592765	65561511	54	19493											
GYPA	2994	genome.wustl.edu	37	chr4	145039887	145039887	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggttcagagaaatgatggGcaagttgtaccctttctcct	9	13	10	9	0	2	2	1	1	1	1	3	3	2	2	2	2	1	4	2	2	3	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:145039887G>T	ENST00000283126.7	-	1	93				RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.A19D|GYPA_ENST00000504786.1_Missense_Mutation_p.A52D|GYPA_ENST00000360771.4_Missense_Mutation_p.A84D|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000535709.1_Missense_Mutation_p.A58D|GYPA_ENST00000324022.10_Missense_Mutation_p.A51D			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GAAATGATGGGCAAGTTGTAC	0.313																																																	0													107	107	107					4																	145039887		2203	4300	6503	SO:0001627	intron_variant	0				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21864C>A	4.37:g.145039887G>T			B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	pfam_Glycophorin,pirsf_Glycophorin	p.A84D	ENST00000283126.7	37	c.251		4	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573144	0.28092	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512789;ENST00000504786;ENST00000394119	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	3.82	-7.64	0.01286	.	5.805190	0.00508	N	0.000168	T	0.16171	0.0389	N	0.24115	0.695	0.09310	N	1	B;B;B;P;D	0.55385	0.0;0.0;0.001;0.545;0.971	B;B;B;B;P	0.52217	0.002;0.001;0.002;0.362;0.693	T	0.45101	-0.9284	10	0.17832	T	0.49	5.1433	9.2225	0.37386	0.3916:0.0:0.4702:0.1383	.	51;19;52;84;84	B8Q185;Q13030;E7EQF3;P02724;Q16336	.;.;.;GLPA_HUMAN;.	D	84;51;58;19;52;52	ENSP00000354003:A84D;ENSP00000324483:A51D;ENSP00000445398:A58D;ENSP00000425193:A19D;ENSP00000425549:A52D	ENSP00000324483:A51D	A	-	2	0	GYPA	145259337	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.533000	0.00062	-4.421000	0.00050	-2.330000	0.00249	GCC	GYPA	-	pfam_Glycophorin,pirsf_Glycophorin	ENSG00000170180		0.313	GYPB-201	KNOWN	basic|appris_principal	protein_coding	GYPA	HGNC	protein_coding			0	79	0	G	NM_002100		145039887	-1			no_errors	ENST00000360771	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.000	T	T	145039887	G	T	145039887	1	4	73	0	1	0	0	0	0	0	0	0	6935	1203	42	3		3	GYPA	4	145039887	Intron	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	19447122	145039887	46114389	55	19494											
SLC10A7	84068	genome.wustl.edu	37	chr4	147442807	147442807	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggctccagtttagctccAgcgatcgccagcactattcc	8	9	9	15	3	0	0	0	0	0	0	4	2	3	0	4	1	3	4	4	1	2	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:147442807A>G	ENST00000507030.1	-	1	62	c.63T>C	c.(61-63)gcT>gcC	p.A21A	SLC10A7_ENST00000335472.7_Silent_p.A21A|SLC10A7_ENST00000394062.3_Silent_p.A21A|SLC10A7_ENST00000502607.1_Silent_p.A21A|SLC10A7_ENST00000511374.1_Silent_p.A21A|SLC10A7_ENST00000394059.4_Silent_p.A21A|SLC10A7_ENST00000264986.3_Silent_p.A21A|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000432059.2_Silent_p.A21A			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	21					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTTTAGCTCCAGCGATCGCCA	0.522																																																	0													160	154	156					4																	147442807		2203	4300	6503	SO:0001819	synonymous_variant	0			AY346324	CCDS3768.1, CCDS34073.1, CCDS75198.1	4q31.2	2013-07-18	2013-07-18	2006-12-19	ENSG00000120519	ENSG00000120519		"Solute carriers"	23088	protein-coding gene	gene with protein product		611459	"chromosome 4 open reading frame 13"	C4orf13		15932064	Standard	NM_032128		Approved	MGC25043, DKFZp566M114, DKFZp313H0531, DKFZp779O2438	uc003ikr.2	Q0GE19	OTTHUMG00000161437	ENST00000507030.1:c.63T>C	4.37:g.147442807A>G			A7E2E6|A7MAX9|Q0VAP9|Q45NG1|Q45NG2|Q5H9S6|Q6P4E6|Q8IZ62|Q8NBP8|Q9H0M9	Silent	SNP	pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr	p.A21	ENST00000507030.1	37	c.63	CCDS34073.1	4																																																																																			SLC10A7	-	pirsf_Put_Na-Bile_cotransptr	ENSG00000120519		0.522	SLC10A7-009	KNOWN	basic|CCDS	protein_coding	SLC10A7	HGNC	protein_coding	OTTHUMT00000366932.1	-	0	80	0	A	NM_032128		147442807	-1	tier1	-	no_errors	ENST00000394062	ensembl	human	known	74_37	silent	64.41	21	38	SNP	0.042	G	G	147442807	A	G	147442807	2	3	73	1	0	0	0	0	0	0	0	1	14424	175	7	4		4	SLC10A7	4	147442807	Silent	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	2402920	147442807	43711469	56	19495											
UFSP2	55325	genome.wustl.edu	37	chr4	186329540	186329540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagccattgtcatctatgCgatcctgcatataatgatga	11	12	7	11	1	2	2	1	2	1	0	3	3	3	2	3	0	3	1	3	0	3	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:186329540C>T	ENST00000264689.6	-	8	997	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	294						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GTCATCTATGCGATCCTGCAT	0.408																																																	0													116	105	109					4																	186329540		2203	4300	6503	SO:0001583	missense	0			AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"chromosome 4 open reading frame 20"	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.881G>A	4.37:g.186329540C>T	ENSP00000264689:p.Arg294His		Q6IA77|Q96FS3	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2	p.R294H	ENST00000264689.6	37	c.881	CCDS3842.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.42|10.42	1.346615|1.346615	0.24426|0.24426	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000509180|ENST00000264689	.|T	.|0.30182	.|1.54	6.03|6.03	3.12|3.12	0.35913|0.35913	.|.	.|0.172675	.|0.52532	.|N	.|0.000070	T|T	0.33177|0.33177	0.0854|0.0854	M|M	0.75777|0.75777	2.31|2.31	0.58432|0.58432	D|D	0.999998|0.999998	.|B;B	.|0.19935	.|0.04;0.004	.|B;B	.|0.19148	.|0.024;0.004	T|T	0.13282|0.13282	-1.0515|-1.0515	5|10	.|0.38643	.|T	.|0.18	-5.7094|-5.7094	11.5582|11.5582	0.50761|0.50761	0.0:0.771:0.0:0.229|0.0:0.771:0.0:0.229	.|.	.|294;194	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	T|H	23|294	.|ENSP00000264689:R294H	.|ENSP00000264689:R294H	A|R	-|-	1|2	0|0	UFSP2|UFSP2	186566534|186566534	0.795000|0.795000	0.28851|0.28851	0.525000|0.525000	0.27900|0.27900	0.261000|0.261000	0.26267|0.26267	1.573000|1.573000	0.36472|0.36472	0.749000|0.749000	0.32854|0.32854	0.655000|0.655000	0.94253|0.94253	GCA|CGC	UFSP2	-	pfam_Peptidase_C78_UfSP1/2	ENSG00000109775		0.408	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFSP2	HGNC	protein_coding	OTTHUMT00000360589.2	-	0	42	0	C	NM_018359		186329540	-1	tier1	-	no_errors	ENST00000264689	ensembl	human	known	74_37	missense	26.47	25	9	SNP	0.890	T	T	186329540	C	T	186329540	3	4	73	1	0	0	0	0	1	0	0	0	16987	768	27	1	548	1	UFSP2	4	186329540	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	38886733	186329540	4824736	57	19496											
FAT1	2195	genome.wustl.edu	37	chr4	187521446	187521446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccatcattgacctgaatGctctgaacagagacaattcc	12	10	7	12	0	2	4	1	3	1	1	3	5	3	4	3	0	3	1	3	0	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr4:187521446G>T	ENST00000441802.2	-	22	11918	c.11709C>A	c.(11707-11709)agC>agA	p.S3903R	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3903	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGACCTGAATGCTCTGAACAG	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													45	44	44					4																	187521446		1994	4165	6159	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11709C>A	4.37:g.187521446G>T	ENSP00000406229:p.Ser3903Arg			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.S3903R	ENST00000441802.2	37	c.11709	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294047	0.81025	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69561	-0.41	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75246	-0.3385	10	0.27082	T	0.32	.	18.7161	0.91677	0.0:0.0:1.0:0.0	.	3903	Q14517	FAT1_HUMAN	R	3903;3905	ENSP00000406229:S3903R	ENSP00000260147:S3905R	S	-	3	2	FAT1	187758440	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.944000	0.70219	2.726000	0.93360	0.655000	0.94253	AGC	FAT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000083857		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	42	0	G	NM_005245		187521446	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	187521446	G	T	187521446	3	4	73	1	0	0	0	0	1	0	0	0	5711	1310	46	3	2081	3	FAT1	4	187521446	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1191906	187521446	3632830	58	19497											
IRX1	79192	genome.wustl.edu	37	chr5	3599749	3599749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacctggaaagcatcgaCattgacaagatcgacgagca	15	6	10	10	4	0	2	0	1	0	1	3	7	0	3	1	1	2	2	1	1	2	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:3599749C>T	ENST00000302006.3	+	2	739	c.687C>T	c.(685-687)gaC>gaT	p.D229D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	229					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAAGCATCGACATTGACAAGA	0.642																																																	0													66	60	62					5																	3599749		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.687C>T	5.37:g.3599749C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.D229	ENST00000302006.3	37	c.687	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.642	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0	29	0	C	NM_024337		3599749	1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.994	T	T	3599749	C	T	3599749	2	4	73	1	0	0	0	0	0	0	0	1	7870	477	17	3		3	IRX1	5	3599749	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		3599749	177315511	59	19498											
C9	735	genome.wustl.edu	37	chr5	39289010	39289010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttttgtttctttaggtgtGcatttttcattttcactgga	6	22	8	5	0	3	0	2	0	1	0	3	1	3	1	0	2	1	3	0	2	1	9			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:39289010G>A	ENST00000263408.4	-	10	1555	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	487	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CTTTAGGTGTGCATTTTTCAT	0.338																																																	0													97	95	96					5																	39289010		2203	4298	6501	SO:0001583	missense	0				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"Complement system"	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1460C>T	5.37:g.39289010G>A	ENSP00000263408:p.Ala487Val			Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt	p.A487V	ENST00000263408.4	37	c.1460	CCDS3929.1	5	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803280	0.90623	.	.	ENSG00000113600	ENST00000263408	T	0.35048	1.33	5.57	5.57	0.84162	Membrane attack complex component/perforin (MACPF) domain (3);	0.967826	0.08577	N	0.925102	T	0.58192	0.2105	L	0.43152	1.355	0.53005	D	0.999966	D	0.89917	1.0	D	0.78314	0.991	T	0.49744	-0.8907	10	0.51188	T	0.08	-33.0048	19.1688	0.93569	0.0:0.0:1.0:0.0	.	487	P02748	CO9_HUMAN	V	487	ENSP00000263408:A487V	ENSP00000263408:A487V	A	-	2	0	C9	39324767	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	8.002000	0.88514	2.626000	0.88956	0.655000	0.94253	GCA	C9	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin	ENSG00000113600		0.338	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	-	0	76	0	G			39289010	-1	tier1	-	no_errors	ENST00000263408	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.998	A	A	39289010	G	A	39289010	3	1	73	1	0	0	0	0	1	0	0	0	2450	1319	46	3	227	3	C9	5	39289010	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	35689261	39289010	141626250	60	19499											
C6	729	genome.wustl.edu	37	chr5	41155094	41155094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcattccacatcccctTgtctccaggtcccgtctggt	4	13	9	15	1	2	0	0	0	2	0	6	0	5	0	5	3	0	2	5	3	0	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:41155094T>A	ENST00000263413.3	-	14	2345	c.2081A>T	c.(2080-2082)cAa>cTa	p.Q694L	C6_ENST00000337836.5_Missense_Mutation_p.Q694L	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	694	C5b-binding domain.|CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACATCCCCTTGTCTCCAGGT	0.413																																																	0													144	135	138					5																	41155094		2203	4300	6503	SO:0001583	missense	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2081A>T	5.37:g.41155094T>A	ENSP00000263413:p.Gln694Leu			Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.Q694L	ENST00000263413.3	37	c.2081	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388415	0.82902	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.64991	-0.13;-0.13	5.82	-4.15	0.03881	Complement control module (2);Sushi/SCR/CCP (3);	0.354318	0.33217	N	0.005155	T	0.65333	0.2681	M	0.72479	2.2	0.37500	D	0.916743	D	0.53745	0.962	P	0.57846	0.828	T	0.65664	-0.6113	10	0.48119	T	0.1	0.0031	6.9688	0.24637	0.104:0.3548:0.0:0.5412	.	694	P13671	CO6_HUMAN	L	694	ENSP00000338861:Q694L;ENSP00000263413:Q694L	ENSP00000263413:Q694L	Q	-	2	0	C6	41190851	0.953000	0.32496	0.452000	0.26994	0.965000	0.64279	-0.038000	0.12144	-1.017000	0.03367	-0.417000	0.06048	CAA	C6	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000039537		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	-	0	55	0	T			41155094	-1	tier1	-	no_errors	ENST00000263413	ensembl	human	known	74_37	missense	51.85	26	28	SNP	0.729	A	A	41155094	T	A	41155094	3	1	73	1	0	0	0	0	1	0	0	0	2322	1812	63	5	743	5	C6	5	41155094	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	1866084	41155094	139760166	61	19500											
SNX18	112574	genome.wustl.edu	37	chr5	53814766	53814766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggcggagaagttcccGgtcatctccgtgccccacct	5	8	11	17	4	2	1	1	0	1	1	4	2	3	1	6	3	1	1	6	3	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:53814766G>A	ENST00000326277.3	+	1	1174	c.984G>A	c.(982-984)ccG>ccA	p.P328P	SNX18_ENST00000343017.6_Silent_p.P328P|SNX18_ENST00000381410.4_Silent_p.P328P	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	328	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGAAGTTCCCGGTCATCTCCG	0.637																																																	0													32	34	33					5																	53814766		2203	4300	6503	SO:0001819	synonymous_variant	0			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"Sorting nexins"	19245	protein-coding gene	gene with protein product			"sorting nexin associated golgi protein 1"	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.984G>A	5.37:g.53814766G>A			B4E2B3|H7BXX3|Q05BB3|Q0VG02	Silent	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.P328	ENST00000326277.3	37	c.984	CCDS3962.1	5																																																																																			SNX18	-	pfam_Phox,superfamily_Phox,smart_Phox,pirsf_Snx9,pfscan_Phox	ENSG00000178996		0.637	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	-	0	88	0	G			53814766	1	tier1	-	no_errors	ENST00000326277	ensembl	human	known	74_37	silent	75.00	10	30	SNP	0.138	A	A	53814766	G	A	53814766	2	1	73	1	0	0	0	0	0	0	0	1	14934	1103	39	1		1	SNX18	5	53814766	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	12659672	53814766	127100494	62	19501											
MAP1B	4131	genome.wustl.edu	37	chr5	71495042	71495042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggacccctgaagagggtGggtactcatatgacataagt	12	8	12	9	1	1	3	1	2	0	1	1	4	1	4	2	3	1	1	2	3	4	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:71495042G>A	ENST00000296755.7	+	5	6158	c.5860G>A	c.(5860-5862)Ggg>Agg	p.G1954R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1954					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAAGAGGGTGGGTACTCATA	0.468																																					Melanoma(17;367 822 11631 31730 47712)												0													60	64	63					5																	71495042		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5860G>A	5.37:g.71495042G>A	ENSP00000296755:p.Gly1954Arg		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.G1954R	ENST00000296755.7	37	c.5860	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310163	0.23821	.	.	ENSG00000131711	ENST00000296755	T	0.03272	3.99	4.98	4.1	0.47936	.	0.340041	0.25324	N	0.031491	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	P;B	0.46512	0.879;0.132	B;B	0.41202	0.35;0.034	T	0.42882	-0.9425	10	0.66056	D	0.02	-6.6695	11.9175	0.52774	0.0824:0.0:0.9176:0.0	.	1828;1954	A2BDK6;P46821	.;MAP1B_HUMAN	R	1954	ENSP00000296755:G1954R	ENSP00000296755:G1954R	G	+	1	0	MAP1B	71530798	0.897000	0.30589	0.005000	0.12908	0.978000	0.69477	3.403000	0.52615	1.071000	0.40834	0.448000	0.29417	GGG	MAP1B	-	NULL	ENSG00000131711		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0	98	0	G	NM_005909		71495042	1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.020	A	A	71495042	G	A	71495042	3	1	73	1	0	0	0	0	1	0	0	0	9266	1348	47	3	5878	3	MAP1B	5	71495042	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	17680276	71495042	109420218	63	19502											
APC	324	genome.wustl.edu	37	chr5	112175951	112175952	+	Frame_Shift_Ins	INS	-	-	A																															aaaccaagagaaagaggcagINSaaaaaactattgattctgaa																								rs587783031		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:112175951_112175952insA	ENST00000457016.1	+	16	5040_5041	c.4660_4661insA	c.(4660-4662)gaafs	p.E1554fs	APC_ENST00000257430.4_Frame_Shift_Ins_p.E1554fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Ins_p.E1554fs			P25054	APC_HUMAN	adenomatous polyposis coli	1554	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1556fs*3(42)|p.E1554fs*5(2)|p.E1554fs*3(1)|p.?(1)|p.T1556fs*9(1)|p.?fs(1)|p.K1192fs*3(1)|p.E1554*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GAAAGAGGCAGAAAAAACTATT	0.342		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	50	Insertion - Frameshift(45)|Deletion - Frameshift(3)|Substitution - Nonsense(1)|Unknown(1)	large_intestine(45)|stomach(3)|soft_tissue(1)|skin(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4666dupA	5.37:g.112175957_112175957dupA	ENSP00000413133:p.Glu1554fs		D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Ins	INS	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T1556fs	ENST00000457016.1	37	c.4660_4661	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.342	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	55	0	-	NM_000038		112175952	1	tier1		no_errors	ENST00000257430	ensembl	human	known	74_37	frame_shift_ins	69.57	7	16	INS	0.925:0.945	A	A	112175952	-	A	112175951	7	5	73	1	0	1	1	0	0	0	0	0	763	943	33	0	4718	0	APC	5	112175951	Frame_Shift_Ins	INS	-	TCGA-L5-A88V-01A-11D-A351-09	40680909	112175951	68739309	64	19503											
FNIP1	96459	genome.wustl.edu	37	chr5	131039772	131039772	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacctgttctattgcacTctttaatttgttcatgtggc	6	19	7	9	0	3	0	1	0	2	0	3	0	3	0	1	1	2	4	1	1	3	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:131039772T>G	ENST00000510461.1	-	10	1197	c.1102A>C	c.(1102-1104)Agt>Cgt	p.S368R	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.S368R|FNIP1_ENST00000307968.7_Missense_Mutation_p.S340R|FNIP1_ENST00000307954.8_Missense_Mutation_p.S323R	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	368					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTATTGCACTCTTTAATTTG	0.249																																																	0													34	38	36					5																	131039772		2202	4290	6492	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1102A>C	5.37:g.131039772T>G	ENSP00000421985:p.Ser368Arg		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.S368R	ENST00000510461.1	37	c.1102	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	T	19.89	3.911189	0.72983	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.75	5.75	0.90469	.	.	.	.	.	T	0.44912	0.1316	L	0.50333	1.59	0.58432	D	0.999998	D;D;D;D	0.69078	0.996;0.978;0.996;0.997	D;P;D;D	0.66847	0.919;0.732;0.919;0.947	T	0.24799	-1.0150	9	0.26408	T	0.33	-8.5138	11.188	0.48669	0.137:0.0:0.0:0.863	.	368;368;340;368	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	R	340;323;128;368;368	ENSP00000309266:S340R;ENSP00000310453:S323R;ENSP00000421985:S368R;ENSP00000425619:S368R	ENSP00000310453:S323R	S	-	1	0	FNIP1	131067671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.115000	0.71566	2.201000	0.70794	0.533000	0.62120	AGT	FNIP1	-	NULL	ENSG00000217128		0.249	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	-	0	99	0	T	NM_133372		131039772	-1	tier1	-	no_errors	ENST00000510461	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	G	G	131039772	T	G	131039772	3	3	73	1	0	0	0	0	1	0	0	0	5997	1551	54	4	2434	4	FNIP1	5	131039772	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	18863821	131039772	49875488	65	19504											
VDAC1	7416	genome.wustl.edu	37	chr5	133326757	133326757	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttctctgtaaacgtcAggccgtactcagtccatctg	8	13	7	13	2	4	0	2	0	2	0	7	0	6	0	3	1	2	2	3	1	3	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:133326757A>G	ENST00000265333.3	-	4	450	c.206T>C	c.(205-207)cTg>cCg	p.L69P	VDAC1_ENST00000395044.3_Missense_Mutation_p.L69P|VDAC1_ENST00000395047.2_Missense_Mutation_p.L69P|VDAC1_ENST00000466080.1_5'UTR	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	69					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TGTAAACGTCAGGCCGTACTC	0.453																																					NSCLC(127;1776 1806 35523 41489 48154)												0													198	177	184					5																	133326757		2203	4300	6503	SO:0001583	missense	0				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"Voltage-dependent anion channels"	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.206T>C	5.37:g.133326757A>G	ENSP00000265333:p.Leu69Pro		B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	pfam_Porin_Euk/Tom40,prints_Porin_Euk	p.L69P	ENST00000265333.3	37	c.206	CCDS4168.1	5	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872067	0.91587	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72510	0.3469	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79524	-0.1768	10	0.87932	D	0	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	69	P21796	VDAC1_HUMAN	P	69	ENSP00000265333:L69P;ENSP00000378484:L69P;ENSP00000378487:L69P;ENSP00000390129:L69P	ENSP00000265333:L69P	L	-	2	0	VDAC1	133354656	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.255000	0.95524	2.254000	0.74563	0.533000	0.62120	CTG	VDAC1	-	pfam_Porin_Euk/Tom40,prints_Porin_Euk	ENSG00000213585		0.453	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	-	0	101	0	A			133326757	-1	tier1	-	no_errors	ENST00000265333	ensembl	human	known	74_37	missense	40.00	57	38	SNP	1.000	G	G	133326757	A	G	133326757	3	3	73	1	0	0	0	0	1	0	0	0	17195	188	7	4	669	4	VDAC1	5	133326757	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	2286985	133326757	47588503	66	19505											
FGF1	2246	genome.wustl.edu	37	chr5	141974989	141974989	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcatgcttcttggatatatAggtgttgtaatggttctcct	7	18	10	6	0	2	0	0	0	2	0	3	1	2	1	1	3	2	5	1	3	4	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:141974989A>G	ENST00000359370.6	-	4	413	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000494579.1_5'UTR|FGF1_ENST00000407758.1_3'UTR|FGF1_ENST00000378046.1_Missense_Mutation_p.Y112H|FGF1_ENST00000360966.5_3'UTR|FGF1_ENST00000419524.2_Missense_Mutation_p.Y112H|FGF1_ENST00000337706.2_Missense_Mutation_p.Y112H|AC005592.2_ENST00000443800.1_RNA	NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2	NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1	P05230	FGF1_HUMAN	fibroblast growth factor 1 (acidic)	112					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|branch elongation involved in ureteric bud branching (GO:0060681)|cell differentiation (GO:0030154)|cellular response to heat (GO:0034605)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesonephric epithelium development (GO:0072163)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|S100 protein binding (GO:0044548)			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Amlexanox(DB01025)|Pazopanib(DB06589)|Pentosan Polysulfate(DB00686)	TTGGATATATAGGTGTTGTAA	0.438																																																	0													132	120	124					5																	141974989		2203	4300	6503	SO:0001583	missense	0			X59065	CCDS4275.1, CCDS4276.1	5q31.3-q33.2	2014-01-30			ENSG00000113578	ENSG00000113578		"Endogenous ligands"	3665	protein-coding gene	gene with protein product	"heparin-binding growth factor 1", "endothelial cell growth factor, alpha", "endothelial cell growth factor, beta"	131220		FGFA		1697263, 3523756	Standard	NM_033137		Approved	AFGF, ECGF, ECGFA, ECGFB, HBGF1, ECGF-beta, FGF-alpha, GLIO703	uc031slo.1	P05230	OTTHUMG00000059703	ENST00000359370.6:c.334T>C	5.37:g.141974989A>G	ENSP00000352329:p.Tyr112His		B2R5T0|D3DQF2|P07502|Q16588	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Y112H	ENST00000359370.6	37	c.334	CCDS4275.1	5	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994495	0.74703	.	.	ENSG00000113578	ENST00000359370;ENST00000378046;ENST00000337706;ENST00000441680;ENST00000419524	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.87	5.87	0.94306	.	0.080193	0.53938	D	0.000053	T	0.81702	0.4878	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.87659	0.2533	10	0.87932	D	0	.	16.2718	0.82624	1.0:0.0:0.0:0.0	.	111;112	A8K147;P05230	.;FGF1_HUMAN	H	112	ENSP00000352329:Y112H;ENSP00000367285:Y112H;ENSP00000338548:Y112H;ENSP00000404742:Y112H;ENSP00000396195:Y112H	ENSP00000338548:Y112H	Y	-	1	0	FGF1	141955173	1.000000	0.71417	0.982000	0.44146	0.518000	0.34316	8.782000	0.91809	2.239000	0.73571	0.528000	0.53228	TAT	FGF1	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000113578		0.438	FGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF1	HGNC	protein_coding	OTTHUMT00000132735.2		0	76	0	A	NM_000800		141974989	-1			no_errors	ENST00000337706	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G	G	141974989	A	G	141974989	3	3	73	1	0	0	0	0	1	0	0	0	5860	420	15	4	137	4	FGF1	5	141974989	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	8648232	141974989	38940271	67	19506											
EBF1	1879	genome.wustl.edu	37	chr5	158139190	158139190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagttggcagctgagccGttgaggaaggtgggggagcc	7	6	22	6	1	0	2	0	2	0	0	0	5	0	5	2	7	3	4	2	7	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:158139190G>A	ENST00000313708.6	-	14	1803	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Silent_p.N476N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	507	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCTGAGCCGTTGAGGAAGG	0.562			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													73	56	62					5																	158139190		2203	4300	6503	SO:0001819	synonymous_variant	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1521C>T	5.37:g.158139190G>A			Q8IW11	Silent	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.N507	ENST00000313708.6	37	c.1521	CCDS4343.1	5																																																																																			EBF1	-	NULL	ENSG00000164330		0.562	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0	69	0	G	NM_024007		158139190	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	silent	41.38	17	12	SNP	0.640	A	A	158139190	G	A	158139190	2	1	73	1	0	0	0	0	0	0	0	1	4894	1136	40	1		1	EBF1	5	158139190	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	16164201	158139190	22776070	68	19507											
CCNJL	79616	genome.wustl.edu	37	chr5	159680513	159680513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctaagggatgcagggacggGcacgggacacatatccaagg	12	4	16	9	2	0	0	0	0	0	0	1	3	1	3	1	5	1	3	1	5	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr5:159680513G>A	ENST00000393977.3	-	7	1465	c.1180C>T	c.(1180-1182)Ccc>Tcc	p.P394S	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.P346S	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	394						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAGGGACGGGCACGGGACAC	0.617																																																	0													80	89	86					5																	159680513		2151	4259	6410	SO:0001583	missense	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1180C>T	5.37:g.159680513G>A	ENSP00000377547:p.Pro394Ser		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P394S	ENST00000393977.3	37	c.1180	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	G	0.673	-0.801325	0.02841	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.30981	1.92;1.51	5.44	2.24	0.28232	.	0.327704	0.32386	N	0.006165	T	0.15176	0.0366	N	0.25647	0.755	0.80722	D	1	B;B	0.25563	0.001;0.129	B;B	0.15870	0.008;0.014	T	0.08269	-1.0730	10	0.10636	T	0.68	-25.674	6.1404	0.20257	0.2543:0.0:0.6037:0.142	.	346;394	B4DZA8;Q8IV13	.;CCNJL_HUMAN	S	394;346	ENSP00000377547:P394S;ENSP00000257536:P346S	ENSP00000257536:P346S	P	-	1	0	CCNJL	159613091	1.000000	0.71417	0.452000	0.26994	0.016000	0.09150	3.449000	0.52950	0.615000	0.30124	-0.136000	0.14681	CCC	CCNJL	-	NULL	ENSG00000135083		0.617	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1		0	81	0	G	NM_024565		159680513	-1			no_errors	ENST00000393977	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.948	A	A	159680513	G	A	159680513	3	1	73	1	0	0	0	0	1	0	0	0	2936	1203	42	3	131	3	CCNJL	5	159680513	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1541323	159680513	21234747	69	19508											
HIVEP1	3096	genome.wustl.edu	37	chr6	12126085	12126085	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggtctattcaagcaagtgGaaaagcagcttaagcaaggt	14	10	11	6	0	2	0	1	0	1	0	2	1	2	1	0	3	4	4	0	3	7	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:12126085G>A	ENST00000379388.2	+	4	6389	c.6057G>A	c.(6055-6057)tgG>tgA	p.W2019*	HIVEP1_ENST00000541134.1_5'UTR	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2019					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAGCAAGTGGAAAAGCAGCT	0.333																																																	0													82	80	80					6																	12126085		1859	4104	5963	SO:0001587	stop_gained	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6057G>A	6.37:g.12126085G>A	ENSP00000368698:p.Trp2019*		B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W2019*	ENST00000379388.2	37	c.6057	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.496128	0.97612	.	.	ENSG00000095951	ENST00000379388	.	.	.	6.07	6.07	0.98685	.	0.000000	0.33854	N	0.004483	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8138	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	2019	.	ENSP00000368698:W2019X	W	+	3	0	HIVEP1	12234071	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	TGG	HIVEP1	-	NULL	ENSG00000095951		0.333	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	29	0	G	NM_002114		12126085	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	nonsense	50.00	18	18	SNP	1.000	A	A	12126085	G	A	12126085	4	1	73	1	0	0	0	0	0	1	0	0	7213	1183	41	3	6067	3	HIVEP1	6	12126085	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		12126085	158988982	70	19509											
JARID2	3720	genome.wustl.edu	37	chr6	15487651	15487651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgggctgacagccgcCgggagcaggcttcagctaac	9	5	13	14	3	2	1	2	1	0	0	2	2	2	2	3	3	4	4	3	3	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:15487651C>T	ENST00000341776.2	+	6	1028	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	JARID2_ENST00000397311.3_Missense_Mutation_p.R90W|JARID2_ENST00000541660.1_Missense_Mutation_p.R224W	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	262					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGACAGCCGCCGGGAGCAGGC	0.632																																																	0													54	53	53					6																	15487651		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.784C>T	6.37:g.15487651C>T	ENSP00000341280:p.Arg262Trp		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R262W	ENST00000341776.2	37	c.784	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093513	0.76756	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.36157	1.27;1.27;1.27	5.17	4.03	0.46877	.	0.242262	0.47093	D	0.000242	T	0.25044	0.0608	N	0.19112	0.55	0.31933	N	0.611953	D;D;D	0.71674	0.998;0.998;0.991	P;P;P	0.59424	0.857;0.784;0.639	T	0.13710	-1.0499	10	0.62326	D	0.03	-17.8567	12.1065	0.53816	0.8375:0.1624:0.0:0.0	.	224;126;262	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	W	126;262;90;224	ENSP00000341280:R262W;ENSP00000380478:R90W;ENSP00000444623:R224W	ENSP00000341280:R262W	R	+	1	2	JARID2	15595630	1.000000	0.71417	0.900000	0.35374	0.876000	0.50452	3.858000	0.55979	0.936000	0.37367	0.561000	0.74099	CGG	JARID2	-	NULL	ENSG00000008083		0.632	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	-	0	118	0	C	NM_004973		15487651	1	tier1	-	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	45.63	56	47	SNP	0.993	T	T	15487651	C	T	15487651	3	4	73	1	0	0	0	0	1	0	0	0	7972	643	23	1	806	1	JARID2	6	15487651	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	3361566	15487651	155627416	71	19510											
NUP153	9972	genome.wustl.edu	37	chr6	17675153	17675153	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgataaggtgtatttcGtagtttagactgtcttacag	10	16	9	6	1	1	2	0	1	1	1	2	2	1	2	1	1	2	3	1	1	6	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:17675153G>A	ENST00000262077.2	-	5	834	c.835C>T	c.(835-837)Cga>Tga	p.R279*	NUP153_ENST00000537253.1_Nonsense_Mutation_p.R279*	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	279					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGTGTATTTCGTAGTTTAGAC	0.358																																																	0													133	121	125					6																	17675153		2203	4300	6503	SO:0001587	stop_gained	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.835C>T	6.37:g.17675153G>A	ENSP00000262077:p.Arg279*		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.R279*	ENST00000262077.2	37	c.835	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.880949	0.97062	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	.	.	.	5.74	3.96	0.45880	.	0.509478	0.16507	N	0.211393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.1543	15.2934	0.73885	0.0:0.0:0.7438:0.2562	.	.	.	.	X	279;301;279	.	ENSP00000262077:R279X	R	-	1	2	NUP153	17783132	0.953000	0.32496	0.038000	0.18304	0.836000	0.47400	5.091000	0.64505	0.780000	0.33566	-0.865000	0.03005	CGA	NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.358	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	115	0	G			17675153	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	nonsense	13.59	89	14	SNP	0.338	A	A	17675153	G	A	17675153	4	1	73	1	0	0	0	0	0	1	0	0	10794	1153	40	1	3664	1	NUP153	6	17675153	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2187502	17675153	153439914	72	19511											
KIAA0319	9856	genome.wustl.edu	37	chr6	24547415	24547415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgtcctttgagcaataaCtgaaggaagctccatttctg	11	13	8	9	0	2	2	0	2	2	0	4	3	4	3	2	1	3	2	2	1	4	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:24547415C>A	ENST00000378214.3	-	21	3721	c.3197G>T	c.(3196-3198)aGt>aTt	p.S1066I	KIAA0319_ENST00000430948.2_Missense_Mutation_p.S1021I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.S1066I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.S1005I|KIAA0319_ENST00000535378.1_Missense_Mutation_p.S1057I	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1066					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TGAGCAATAACTGAAGGAAGC	0.458																																																	0													209	196	200					6																	24547415		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3197G>T	6.37:g.24547415C>A	ENSP00000367459:p.Ser1066Ile		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S1066I	ENST00000378214.3	37	c.3197	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998818	0.54147	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.09073	3.02;3.12;3.13;3.12;3.12	4.76	3.88	0.44766	.	0.380552	0.26065	N	0.026551	T	0.04363	0.0120	N	0.22421	0.69	0.23174	N	0.99818	D;D;D	0.60575	0.988;0.988;0.979	P;P;P	0.56700	0.804;0.804;0.642	T	0.30475	-0.9977	10	0.41790	T	0.15	-3.0869	7.5826	0.27974	0.0:0.7287:0.0:0.2713	.	1005;1057;1066	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	I	1005;1057;1021;1066;1066	ENSP00000439700:S1005I;ENSP00000442403:S1057I;ENSP00000401086:S1021I;ENSP00000367459:S1066I;ENSP00000437656:S1066I	ENSP00000367459:S1066I	S	-	2	0	KIAA0319	24655394	0.995000	0.38212	0.688000	0.30117	0.875000	0.50365	0.282000	0.18829	1.200000	0.43188	0.655000	0.94253	AGT	KIAA0319	-	NULL	ENSG00000137261		0.458	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	60	0	C	NM_014809		24547415	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.983	A	A	24547415	C	A	24547415	3	1	73	1	0	0	0	0	1	0	0	0	8195	565	20	3	25	3	KIAA0319	6	24547415	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	6872262	24547415	146567652	73	19512											
HIST1H4K	8362	genome.wustl.edu	37	chr6	27799101	27799101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctgtataggtcacggcgtCccggatcacgttctccagga	7	10	11	13	4	4	0	2	0	2	0	6	2	5	2	2	4	0	2	2	4	2	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:27799101C>G	ENST00000357549.2	-	1	204	c.205G>C	c.(205-207)Gac>Cac	p.D69H		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	69					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GTCACGGCGTCCCGGATCACG	0.662																																																	0													17	19	18					6																	27799101		2198	4270	6468	SO:0001583	missense	0			X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"Histones / Replication-dependent"	4784	protein-coding gene	gene with protein product		602825	"H4 histone family, member D", "histone 1, H4k"	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.205G>C	6.37:g.27799101C>G	ENSP00000350159:p.Asp69His		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.D69H	ENST00000357549.2	37	c.205	CCDS4631.1	6	.	.	.	.	.	.	.	.	.	.	.	26.5	4.741385	0.89573	.	.	ENSG00000197914	ENST00000357549	T	0.71461	-0.57	4.25	4.25	0.50352	.	0.000000	0.53938	U	0.000045	T	0.77391	0.4123	.	.	.	0.44871	D	0.997886	.	.	.	.	.	.	T	0.81684	-0.0821	7	0.87932	D	0	.	16.0265	0.80548	0.0:1.0:0.0:0.0	.	.	.	.	H	69	ENSP00000350159:D69H	ENSP00000350159:D69H	D	-	1	0	HIST1H4K	27907080	1.000000	0.71417	0.980000	0.43619	0.643000	0.38383	5.245000	0.65405	2.064000	0.61679	0.650000	0.86243	GAC	HIST1H4K	-	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000197914		0.662	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4K	HGNC	protein_coding	OTTHUMT00000040156.1	-	0	36	0	C	NM_003541		27799101	-1	tier1	-	no_errors	ENST00000357549	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	G	G	27799101	C	G	27799101	3	3	73	1	0	0	0	0	1	0	0	0	7202	855	30	5	110	5	HIST1H4K	6	27799101	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	3251686	27799101	143315966	74	19513											
GRM4	2914	genome.wustl.edu	37	chr6	34003798	34003798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatggccagctgtgaggCggggctgatgaagcgtgggg	6	7	22	6	2	0	4	0	4	0	0	0	4	0	4	1	7	2	2	1	7	1	0	rs374098086		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:34003798C>T	ENST00000538487.2	-	9	2532	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	GRM4_ENST00000609222.1_Missense_Mutation_p.A564T|GRM4_ENST00000535756.1_Missense_Mutation_p.A564T|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374181.4_Missense_Mutation_p.A697T|GRM4_ENST00000455714.2_Missense_Mutation_p.A557T|GRM4_ENST00000374177.3_Missense_Mutation_p.A581T|GRM4_ENST00000544773.2_Missense_Mutation_p.A528T	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	697					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCTGTGAGGCGGGGCTGATG	0.617																																																	0													107	117	114					6																	34003798		2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2089G>A	6.37:g.34003798C>T	ENSP00000440556:p.Ala697Thr		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.A697T	ENST00000538487.2	37	c.2089	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016564	0.35606	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.48	4.48	0.54585	GPCR, family 3, C-terminal (2);	0.054522	0.64402	D	0.000001	T	0.67173	0.2865	N	0.05158	-0.105	0.51767	D	0.99993	B;B;D;P;B	0.61697	0.05;0.046;0.99;0.653;0.082	B;B;P;B;B	0.48704	0.015;0.007;0.587;0.081;0.036	T	0.70568	-0.4836	10	0.11485	T	0.65	.	13.9494	0.64106	0.1519:0.8481:0.0:0.0	.	650;528;557;697;564	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	T	697;581;389;564;528;697;557	ENSP00000363296:A697T;ENSP00000363292:A581T;ENSP00000445533:A389T;ENSP00000437925:A564T;ENSP00000437730:A528T;ENSP00000440556:A697T;ENSP00000398456:A557T	ENSP00000363292:A581T	A	-	1	0	GRM4	34111776	0.977000	0.34250	0.947000	0.38551	0.980000	0.70556	2.487000	0.45268	2.307000	0.77673	0.462000	0.41574	GCC	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000124493		0.617	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0	61	0	C			34003798	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	44.44	35	28	SNP	0.993	T	T	34003798	C	T	34003798	3	4	73	1	0	0	0	0	1	0	0	0	6826	768	27	1	661	1	GRM4	6	34003798	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	6204697	34003798	137111269	75	19514											
ELOVL5	60481	genome.wustl.edu	37	chr6	53138125	53138125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggatgaagctattaaGtgtggcaccaaaataagctg	14	9	12	6	1	0	1	0	1	0	0	0	3	0	2	1	2	2	3	1	2	6	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:53138125G>A	ENST00000542638.1	-	6	961	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	ELOVL5_ENST00000370918.4_Missense_Mutation_p.L162F|ELOVL5_ENST00000541407.1_Missense_Mutation_p.L199F|ELOVL5_ENST00000304434.6_Missense_Mutation_p.L172F|ELOVL5_ENST00000486973.1_5'Flank			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	172				YFGATLNSFIHVLMYSYYGLSSVPSMRPYLWWKKYITQGQL LQFVLTIIQTSCGVIWPCTFPLGWLYFQIGYMISLIALFTN FYIQTYNKKGASRR -> SVCADNHPDQLRGHLAVHIPSWL VVFPDWIHDFPDCSLHKLLHSDLQQERGLPKERPPEGPPEW VHGCCEWTHQQLFTPGKQCEAKEAAEGLKSKN (in Ref. 4; BAD93035). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					AAGCTATTAAGTGTGGCACCA	0.413																																																	0													162	148	153					6																	53138125		2203	4300	6503	SO:0001583	missense	0			AF052129	CCDS4951.1, CCDS56433.1, CCDS56434.1, CCDS75470.1	6p21.1-p12.1	2014-07-30	2011-05-25		ENSG00000012660	ENSG00000012660			21308	protein-coding gene	gene with protein product		611805	"ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)", "spinocerebellar ataxia 38"	SCA38		10970790, 25065913	Standard	NM_021814		Approved	HELO1, dJ483K16.1	uc011dwx.2	Q9NYP7	OTTHUMG00000016249	ENST00000542638.1:c.514C>T	6.37:g.53138125G>A	ENSP00000440728:p.Leu172Phe		B4DZJ2|F6SH78|Q59EL3|Q5TGH5|Q6NXE7|Q7L2S5|Q8NCG4|Q9UI22	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.L199F	ENST00000542638.1	37	c.595	CCDS4951.1	6	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703102	0.48412	.	.	ENSG00000012660	ENST00000370918;ENST00000304434;ENST00000542638;ENST00000541407	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.86	5.86	0.93980	.	.	.	.	.	T	0.21718	0.0523	M	0.65975	2.015	0.49915	D	0.999832	B;B	0.26602	0.154;0.087	B;B	0.33799	0.16;0.17	T	0.02326	-1.1176	9	0.51188	T	0.08	-8.476	14.3503	0.66697	0.0703:0.0:0.9297:0.0	.	199;172	F6SH78;Q9NYP7	.;ELOV5_HUMAN	F	162;172;172;199	ENSP00000359956:L162F;ENSP00000306640:L172F;ENSP00000440728:L172F;ENSP00000438095:L199F	ENSP00000306640:L172F	L	-	1	0	ELOVL5	53246084	0.999000	0.42202	0.992000	0.48379	0.916000	0.54674	2.264000	0.43302	2.787000	0.95880	0.650000	0.86243	CTT	ELOVL5	-	pfam_GNS1_SUR4	ENSG00000012660		0.413	ELOVL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL5	HGNC	protein_coding	OTTHUMT00000043566.1	-	0	109	0	G	NM_021814		53138125	-1	tier1	-	no_errors	ENST00000541407	ensembl	human	known	74_37	missense	27.78	78	30	SNP	0.902	A	A	53138125	G	A	53138125	3	1	73	1	0	0	0	0	1	0	0	0	5093	1029	36	3	397	3	ELOVL5	6	53138125	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	19134327	53138125	117976942	76	19515											
FAM83B	222584	genome.wustl.edu	37	chr6	54806542	54806542	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacgtccagtgagcttctaCgatctcattcaactgatcgg	10	11	8	12	3	3	2	2	2	2	0	6	3	4	2	1	1	4	1	1	1	3	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:54806542C>T	ENST00000306858.7	+	5	2889	c.2773C>T	c.(2773-2775)Cga>Tga	p.R925*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	925										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGAGCTTCTACGATCTCATTC	0.438																																																	0													112	98	103					6																	54806542		2203	4300	6503	SO:0001587	stop_gained	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2773C>T	6.37:g.54806542C>T	ENSP00000304078:p.Arg925*		Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	pfam_DUF1669	p.R925*	ENST00000306858.7	37	c.2773	CCDS34479.1	6	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860603	0.71834	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.63	-1.57	0.08506	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.0893	17.5743	0.87944	0.3303:0.6697:0.0:0.0	.	.	.	.	X	925	.	ENSP00000304078:R925X	R	+	1	2	FAM83B	54914501	0.694000	0.27738	0.000000	0.03702	0.009000	0.06853	1.436000	0.34980	-0.153000	0.11137	-0.181000	0.13052	CGA	FAM83B	-	NULL	ENSG00000168143		0.438	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	-	0	57	0	C	XM_294139		54806542	1	tier1	-	no_errors	ENST00000306858	ensembl	human	known	74_37	nonsense	29.41	36	15	SNP	0.000	T	T	54806542	C	T	54806542	4	4	73	1	0	0	0	0	0	1	0	0	5656	528	19	1	2787	1	FAM83B	6	54806542	Nonsense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1668417	54806542	116308525	77	19516											
BAI3	577	genome.wustl.edu	37	chr6	70034887	70034887	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattaggacacggcttataAgaaaacgctttttgtgcctt	13	13	8	7	2	0	1	0	0	0	1	0	2	0	2	1	2	2	2	1	2	6	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:70034887A>C	ENST00000370598.1	+	21	3759	c.2938A>C	c.(2938-2940)Aga>Cga	p.R980R	BAI3_ENST00000238918.8_Silent_p.R186R	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	980					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACGGCTTATAAGAAAACGCTT	0.398																																																	0													194	186	189					6																	70034887		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2938A>C	6.37:g.70034887A>C			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R980	ENST00000370598.1	37	c.2938	CCDS4968.1	6																																																																																			BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	ENSG00000135298		0.398	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	91	0	A			70034887	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	23.53	39	12	SNP	1.000	C	C	70034887	A	C	70034887	2	2	73	1	0	0	0	0	0	0	0	1	1301	64	3	4		4	BAI3	6	70034887	Silent	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	15228345	70034887	101080180	78	19517											
SFRS18	25957	genome.wustl.edu	37	chr6	99849058	99849058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattagatctccttctatcTctaatctttaccctagccct	8	17	2	14	0	4	1	0	0	4	1	6	1	4	1	3	0	2	0	3	0	6	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:99849058T>G	ENST00000369239.5	-	12	1980	c.1776A>C	c.(1774-1776)agA>agC	p.R592S	PNISR_ENST00000438806.1_Missense_Mutation_p.R592S	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	592						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCTTCTATCTCTAATCTTTA	0.418																																																	0													111	113	112					6																	99849058		2203	4300	6503	SO:0001583	missense	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.1776A>C	6.37:g.99849058T>G	ENSP00000358242:p.Arg592Ser		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	NULL	p.R592S	ENST00000369239.5	37	c.1776	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492859	0.26774	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.49	3.09	0.35607	.	0.081755	0.85682	D	0.000000	T	0.10594	0.0259	N	0.11201	0.11	0.54753	D	0.999983	B	0.16802	0.019	B	0.15484	0.013	T	0.12863	-1.0531	9	0.13853	T	0.58	.	4.4302	0.11524	0.1369:0.2375:0.0:0.6257	.	592	Q8TF01	PNISR_HUMAN	S	592	.	ENSP00000358242:R592S	R	-	3	2	PNISR	99955779	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.168000	0.31859	0.469000	0.27268	0.472000	0.43445	AGA	PNISR	-	NULL	ENSG00000132424		0.418	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	-	0	58	0	T	NM_032870		99849058	-1	tier1	-	no_errors	ENST00000369239	ensembl	human	known	74_37	missense	46.15	21	18	SNP	1.000	G	G	99849058	T	G	99849058	3	3	73	1	0	0	0	0	1	0	0	0	14219	1548	54	4	645	4	SFRS18	6	99849058	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	29814171	99849058	71266009	79	19518											
HS3ST5	222537	genome.wustl.edu	37	chr6	114378489	114378489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggatgaaagaatttgcGcaatttagtaatgacagagg	18	9	11	3	1	0	4	0	2	0	2	0	5	0	5	0	2	1	2	0	2	7	4	rs374141405		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:114378489G>A	ENST00000312719.5	-	5	2161	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	HS3ST5_ENST00000411826.1_Missense_Mutation_p.R325C|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	325					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AAGAATTTGCGCAATTTAGTA	0.408																																																	0								G	CYS/ARG	1,4405	4.2+/-10.8	0,1,2202	64	68	66		973	6	1	6		66	1,8597	1.2+/-3.3	0,1,4298	no	missense	HS3ST5	NM_153612.3	180	0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154	benign	325/347	114378489	2,13002	2203	4299	6502	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"Sulfotransferases, membrane-bound"	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.973C>T	6.37:g.114378489G>A	ENSP00000427888:p.Arg325Cys		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R325C	ENST00000312719.5	37	c.973	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722416	0.48728	2.27E-4	1.16E-4	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.82803	-1.65;-1.65	6.02	6.02	0.97574	Sulfotransferase domain (1);	0.108901	0.64402	D	0.000004	D	0.83031	0.5166	M	0.63208	1.945	0.80722	D	1	D	0.69078	0.997	P	0.49252	0.604	T	0.81752	-0.0789	10	0.41790	T	0.15	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	325	Q8IZT8	HS3S5_HUMAN	C	325	ENSP00000427888:R325C;ENSP00000440332:R325C	ENSP00000427888:R325C	R	-	1	0	HS3ST5	114485182	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.618000	0.83043	2.865000	0.98341	0.655000	0.94253	CGC	HS3ST5	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000249853		0.408	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	-	0	41	0	G	NM_153612		114378489	-1	tier1	-	no_errors	ENST00000312719	ensembl	human	known	74_37	missense	60.00	8	12	SNP	1.000	A	A	114378489	G	A	114378489	3	1	73	1	0	0	0	0	1	0	0	0	7395	1087	38	1	71	1	HS3ST5	6	114378489	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	14529431	114378489	56736578	80	19519											
GRM1	2911	genome.wustl.edu	37	chr6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctttgaccgactcttgcGcaaactccgagagaggcttc	9	9	11	12	3	1	2	0	1	1	1	3	6	2	2	2	1	3	3	2	1	1	3	rs553512718		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0	0	5008	,	,		18937	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											93	84	87					6																	146480607		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.R275H	ENST00000282753.1	37	c.824	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC	GRM1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt	ENSG00000152822		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1		0	31	0	G	NM_000838		146480607	1			no_errors	ENST00000282753	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	146480607	G	A	146480607	3	1	73	1	0	0	0	0	1	0	0	0	6823	1087	38	1	830	1	GRM1	6	146480607	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	32102118	146480607	24634460	81	19520											
SYNE1	23345	genome.wustl.edu	37	chr6	152644758	152644758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgctccagctccagaaCgaacgtgtcgtggtattcaa	9	10	10	12	3	1	1	1	0	0	1	4	2	3	1	2	1	5	4	2	1	4	2	rs577548641	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:152644758C>T	ENST00000367255.5	-	82	16373	c.15772G>A	c.(15772-15774)Gtt>Att	p.V5258I	SYNE1_ENST00000423061.1_Missense_Mutation_p.V5187I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V5187I|SYNE1_ENST00000341594.5_Missense_Mutation_p.V4951I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V5258I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5258					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCTCCAGAACGAACGTGTCG	0.542										HNSCC(10;0.0054)			C|||	5	0.000998403	0	0	5008	,	,		17211	0.005		0	False		,,,				2504	0																0													92	88	89					6																	152644758		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15772G>A	6.37:g.152644758C>T	ENSP00000356224:p.Val5258Ile		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V5258I	ENST00000367255.5	37	c.15772	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	4.393	0.072538	0.08436	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.25	-10.5	0.00291	.	2.783250	0.01565	N	0.020327	T	0.04137	0.0115	N	0.13043	0.29	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.09185	-1.0686	10	0.13853	T	0.58	.	4.9598	0.14061	0.0735:0.1499:0.3095:0.4672	.	5258;5258;5258;5187	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	I	5258;5187;5258;5187;4951	ENSP00000356224:V5258I;ENSP00000396024:V5187I;ENSP00000265368:V5258I;ENSP00000390975:V5187I;ENSP00000341887:V4951I	ENSP00000265368:V5258I	V	-	1	0	SYNE1	152686451	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.825000	0.04433	-2.628000	0.00436	-1.054000	0.02325	GTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	39	0	C	NM_182961		152644758	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	62.96	10	17	SNP	0.000	T	T	152644758	C	T	152644758	3	4	73	1	0	0	0	0	1	0	0	0	15492	536	19	1	10954	1	SYNE1	6	152644758	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	6164151	152644758	18470309	82	19521											
TBP	6908	genome.wustl.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562																																																	1	Substitution - coding silent(1)	endometrium(1)											17	21	20					6																	170871043		1987	3877	5864	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.219G>A	6.37:g.170871043G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q73	ENST00000392092.2	37	c.219	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.562	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0	80	0	G	NM_003194		170871043	1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.964	A	A	170871043	G	A	170871043	2	1	73	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	18226285	170871043	244024	83	19522											
HDAC9	9734	genome.wustl.edu	37	chr7	18674345	18674345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatgagacttcggttttgCcccctacccctcatgccgag	9	10	8	14	2	1	1	1	1	0	1	2	3	1	1	5	1	3	1	5	1	3	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:18674345C>T	ENST00000432645.2	+	7	883	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	HDAC9_ENST00000456174.2_Missense_Mutation_p.P267S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P254S|HDAC9_ENST00000406451.4_Missense_Mutation_p.P295S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P298S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P218S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P295S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P251S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P282S|HDAC9_ENST00000417496.2_Missense_Mutation_p.P293S	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	295	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTCGGTTTTGCCCCCTACCCC	0.418																																																	0													81	80	80					7																	18674345		1862	4097	5959	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.883C>T	7.37:g.18674345C>T	ENSP00000410337:p.Pro295Ser		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P298S	ENST00000432645.2	37	c.892	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373279	0.61624	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.59502	0.8;0.82;0.27;0.81;0.8;0.28;0.27;0.26;0.83;0.82	5.71	5.71	0.89125	.	0.236483	0.29594	N	0.011701	T	0.51346	0.1669	L	0.35723	1.085	0.58432	D	0.999994	B;B;B;B;B;B;B;P;B;B;B;B;B;P	0.52316	0.011;0.035;0.035;0.349;0.02;0.234;0.006;0.952;0.05;0.085;0.006;0.05;0.059;0.817	B;B;B;B;B;B;B;P;B;B;B;B;B;B	0.50570	0.005;0.009;0.015;0.092;0.005;0.143;0.005;0.644;0.049;0.022;0.005;0.049;0.021;0.23	T	0.40757	-0.9546	10	0.15066	T	0.55	-17.0501	8.9483	0.35773	0.1491:0.7774:0.0:0.0735	.	218;267;295;282;293;295;298;254;298;295;267;295;295;273	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	S	293;296;295;295;251;282;254;295;298;267;218;295	ENSP00000401669:P293S;ENSP00000384382:P295S;ENSP00000384657:P295S;ENSP00000395655:P251S;ENSP00000384017:P282S;ENSP00000383912:P254S;ENSP00000410337:P295S;ENSP00000408617:P298S;ENSP00000388568:P267S;ENSP00000430036:P218S	ENSP00000262069:P296S	P	+	1	0	HDAC9	18640870	1.000000	0.71417	0.987000	0.45799	0.526000	0.34562	3.469000	0.53093	2.706000	0.92434	0.650000	0.86243	CCC	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0	131	0	C			18674345	1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	46.45	97	85	SNP	1.000	T	T	18674345	C	T	18674345	3	4	73	1	0	0	0	0	1	0	0	0	7041	739	26	3	918	3	HDAC9	7	18674345	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		18674345	140464318	84	19523											
SKAP2	8935	genome.wustl.edu	37	chr7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtttaccttttctgcGtttttcaaggtagccagcct	6	17	7	11	1	3	0	2	0	1	0	3	0	3	0	3	1	4	3	3	1	3	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:26779515G>A	ENST00000345317.2	-	5	689	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	126	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R126C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373																																																	1	Substitution - Missense(1)	skin(1)											74	70	71					7																	26779515		2203	4300	6503	SO:0001583	missense	0				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"Pleckstrin homology (PH) domain containing"	15687	protein-coding gene	gene with protein product		605215	"src family associated phosphoprotein 2"	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.376C>T	7.37:g.26779515G>A	ENSP00000005587:p.Arg126Cys		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.R126C	ENST00000345317.2	37	c.376	CCDS5400.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058233	0.76074	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.14391	2.51;2.51	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.06391	-1.0829	10	0.87932	D	0	-25.7679	17.008	0.86398	0.0:0.0:1.0:0.0	.	111;126	B7Z5N4;O75563	.;SKAP2_HUMAN	C	126;111;111	ENSP00000005587:R126C;ENSP00000408163:R111C	ENSP00000005587:R126C	R	-	1	0	SKAP2	26746040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.504000	0.66968	2.746000	0.94184	0.591000	0.81541	CGC	SKAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000005020		0.373	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP2	HGNC	protein_coding	OTTHUMT00000214128.1	-	0	136	0	G			26779515	-1	tier1	-	no_errors	ENST00000345317	ensembl	human	known	74_37	missense	11.70	151	20	SNP	1.000	A	A	26779515	G	A	26779515	3	1	73	1	0	0	0	0	1	0	0	0	14401	1145	40	1	735	1	SKAP2	7	26779515	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	8105170	26779515	132359148	85	19524											
TXNDC3	51314	genome.wustl.edu	37	chr7	37896931	37896931	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagagataaatgtgaacctgTttttctctttagtgttgtaa	11	18	8	4	0	1	2	0	1	1	1	2	3	1	2	1	0	1	3	1	0	6	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:37896931T>A	ENST00000199447.4	+	6	626	c.254T>A	c.(253-255)gTt>gAt	p.V85D	EPDR1_ENST00000476620.1_5'UTR|NME8_ENST00000440017.1_Missense_Mutation_p.V85D	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	85	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TGTGAACCTGTTTTTCTCTTT	0.284																																																	0													103	105	104					7																	37896931		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.254T>A	7.37:g.37896931T>A	ENSP00000199447:p.Val85Asp		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.V85D	ENST00000199447.4	37	c.254	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	T	17.06	3.292911	0.60086	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.22743	1.94;1.94	5.65	5.65	0.86999	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.152135	0.30584	N	0.009315	T	0.33933	0.0880	L	0.59912	1.85	0.50813	D	0.999899	D	0.59357	0.985	P	0.61477	0.889	T	0.18871	-1.0323	10	0.52906	T	0.07	-10.6242	5.2679	0.15609	0.1574:0.0822:0.0:0.7604	.	85	Q8N427	TXND3_HUMAN	D	85;30;30;85	ENSP00000199447:V85D;ENSP00000397063:V85D	ENSP00000199447:V85D	V	+	2	0	TXNDC3	37863456	0.986000	0.35501	0.997000	0.53966	0.955000	0.61496	2.565000	0.45939	2.144000	0.66660	0.477000	0.44152	GTT	NME8	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000086288		0.284	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	42	0	T	NM_016616		37896931	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	28.89	32	13	SNP	0.993	A	A	37896931	T	A	37896931	3	1	73	1	0	0	0	0	1	0	0	0	16847	1725	60	5	268	5	TXNDC3	7	37896931	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	11117416	37896931	121241732	86	19525											
POU6F2	11281	genome.wustl.edu	37	chr7	39379547	39379547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagagctccagcccccCgcagaaacctagtcagtctc	10	5	8	18	1	2	2	1	0	1	2	4	2	3	2	6	0	4	3	6	0	2	1	rs144939808	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:39379547C>T	ENST00000403058.1	+	6	972	c.818C>T	c.(817-819)cCg>cTg	p.P273L	POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Missense_Mutation_p.P273L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tccagccccCCGCAGAAACCT	0.627																																																	0								C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	116	130	125		818,818	3.8	1	7	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	POU6F2	NM_001166018.1,NM_007252.3	98,98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	273/656,273/692	39379547	3,13003	2203	4300	6503	SO:0001583	missense	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.818C>T	7.37:g.39379547C>T	ENSP00000384004:p.Pro273Leu		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P273L	ENST00000403058.1	37	c.818	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722810	0.48728	0.0	3.49E-4	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85702	0.99;-2.02	4.66	3.76	0.43208	.	2586.510000	0.00166	N	0.000001	D	0.86016	0.5832	L	0.55481	1.735	0.46678	D	0.999155	P;P	0.45011	0.848;0.725	B;B	0.41619	0.361;0.074	T	0.71580	-0.4550	10	0.49607	T	0.09	.	13.9533	0.64131	0.1534:0.8466:0.0:0.0	.	273;273	P78424-2;P78424	.;PO6F2_HUMAN	L	273	ENSP00000384004:P273L;ENSP00000430514:P273L	ENSP00000384004:P273L	P	+	2	0	POU6F2	39346072	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	5.936000	0.70153	0.916000	0.36871	0.557000	0.71058	CCG	POU6F2	-	NULL	ENSG00000106536		0.627	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	-	0	55	0	C	NM_007252		39379547	1	tier1	rs144939808	no_errors	ENST00000403058	ensembl	human	known	74_37	missense	62.64	34	57	SNP	1.000	T	T	39379547	C	T	39379547	3	4	73	1	0	0	0	0	1	0	0	0	12324	652	23	1	836	1	POU6F2	7	39379547	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1482616	39379547	119759116	87	19526											
HIP1	3092	genome.wustl.edu	37	chr7	75183808	75183808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctggaaatggatgtgaCcgtggagaggaggtgatctg	10	8	18	5	1	1	3	0	2	1	1	1	7	1	6	1	5	1	2	1	5	1	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:75183808C>T	ENST00000336926.6	-	20	2007	c.1981G>A	c.(1981-1983)Gtc>Atc	p.V661I	HIP1_ENST00000434438.2_Missense_Mutation_p.V661I	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	661					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATGGATGTGACCGTGGAGAGG	0.527			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													100	90	94					7																	75183808		2203	4300	6503	SO:0001583	missense	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1981G>A	7.37:g.75183808C>T	ENSP00000336747:p.Val661Ile		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.V661I	ENST00000336926.6	37	c.1981	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	c	2.719	-0.267101	0.05754	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.10763	2.99;2.84	5.51	2.42	0.29668	.	0.728443	0.13338	N	0.395400	T	0.08935	0.0221	L	0.54323	1.7	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46470	-0.9189	10	0.07990	T	0.79	-23.1044	5.6428	0.17572	0.0:0.3612:0.0:0.6388	.	661;661	E7ES17;O00291	.;HIP1_HUMAN	I	661	ENSP00000336747:V661I;ENSP00000410300:V661I	ENSP00000336747:V661I	V	-	1	0	HIP1	75021744	0.150000	0.22732	0.217000	0.23759	0.033000	0.12548	0.316000	0.19469	0.207000	0.20607	0.655000	0.94253	GTC	HIP1	-	NULL	ENSG00000127946		0.527	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	-	0	57	0	C	NM_005338		75183808	-1	tier1	-	no_errors	ENST00000336926	ensembl	human	known	74_37	missense	42.11	33	24	SNP	0.414	T	T	75183808	C	T	75183808	3	4	73	1	0	0	0	0	1	0	0	0	7141	507	18	3	1180	3	HIP1	7	75183808	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	35804261	75183808	83954855	88	19527											
LMTK2	22853	genome.wustl.edu	37	chr7	97821506	97821506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgctgctcacaaccgacatgGataatccagaaaggactggc	13	6	10	12	2	1	1	1	0	0	1	2	4	2	3	2	3	2	2	2	3	3	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:97821506G>A	ENST00000297293.5	+	11	2022	c.1729G>A	c.(1729-1731)Gat>Aat	p.D577N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	577					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AACCGACATGGATAATCCAGA	0.488																																																	0													59	62	61					7																	97821506		2203	4300	6503	SO:0001583	missense	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1729G>A	7.37:g.97821506G>A	ENSP00000297293:p.Asp577Asn		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D577N	ENST00000297293.5	37	c.1729	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637924	0.67130	.	.	ENSG00000164715	ENST00000297293	T	0.80738	-1.41	5.33	5.33	0.75918	.	0.481200	0.24549	N	0.037570	T	0.79299	0.4422	L	0.57536	1.79	0.36265	D	0.854801	P	0.51791	0.948	P	0.45377	0.478	D	0.84829	0.0801	10	0.62326	D	0.03	.	11.8004	0.52124	0.0803:0.0:0.9197:0.0	.	577	Q8IWU2	LMTK2_HUMAN	N	577	ENSP00000297293:D577N	ENSP00000297293:D577N	D	+	1	0	LMTK2	97659442	1.000000	0.71417	0.105000	0.21289	0.081000	0.17604	3.283000	0.51701	2.666000	0.90696	0.655000	0.94253	GAT	LMTK2	-	NULL	ENSG00000164715		0.488	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	-	0	111	0	G	NM_014916		97821506	1	tier1	-	no_errors	ENST00000297293	ensembl	human	known	74_37	missense	42.39	53	39	SNP	0.975	A	A	97821506	G	A	97821506	3	1	73	1	0	0	0	0	1	0	0	0	8889	1174	41	3	1771	3	LMTK2	7	97821506	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	22637698	97821506	61317157	89	19528											
LRCH4	4034	genome.wustl.edu	37	chr7	100180051	100180051	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagctggcacgccgcctcGggcacctcgggaaaccggtt	7	5	13	16	5	0	0	0	0	0	0	2	1	0	1	5	4	2	4	5	4	1	1	rs200187564		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:100180051G>C	ENST00000310300.6	-	2	304	c.252C>G	c.(250-252)ccC>ccG	p.P84P	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	84					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGCCGCCTCGGGCACCTCGG	0.647																																																	0													47	47	47					7																	100180051		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.252C>G	7.37:g.100180051G>C			A4D2D5|Q8WV85|Q96ID0	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P84	ENST00000310300.6	37	c.252	CCDS34706.1	7																																																																																			LRCH4	-	NULL	ENSG00000077454		0.647	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRCH4	HGNC	protein_coding	OTTHUMT00000356110.1	-	0	83	0	G	NM_002319		100180051	-1	tier1	-	no_errors	ENST00000310300	ensembl	human	known	74_37	silent	12.12	87	12	SNP	0.005	C	C	100180051	G	C	100180051	2	2	73	1	0	0	0	0	0	0	0	1	8970	1103	39	5		5	LRCH4	7	100180051	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2358545	100180051	58958612	90	19529											
ACHE	43	genome.wustl.edu	37	chr7	100491648	100491648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcccatgggtggctccGcaaaggggatgcccaggaaa	9	5	17	10	1	0	0	0	0	0	0	2	2	2	2	3	7	1	2	3	7	2	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:100491648G>A	ENST00000412389.1	-	1	361	c.206C>T	c.(205-207)gCg>gTg	p.A69V	ACHE_ENST00000411582.1_Missense_Mutation_p.A69V|ACHE_ENST00000419336.2_Missense_Mutation_p.A69V|ACHE_ENST00000497647.1_5'Flank|ACHE_ENST00000302913.4_Missense_Mutation_p.A69V|ACHE_ENST00000241069.5_Missense_Mutation_p.A69V|ACHE_ENST00000428317.1_Missense_Mutation_p.A69V			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	69					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	GGGTGGCTCCGCAAAGGGGAT	0.657																																																	0													34	37	36					7																	100491648		2203	4300	6503	SO:0001583	missense	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.206C>T	7.37:g.100491648G>A	ENSP00000394976:p.Ala69Val		A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.A69V	ENST00000412389.1	37	c.206	CCDS5709.1	7	.	.	.	.	.	.	.	.	.	.	g	21.7	4.188347	0.78789	.	.	ENSG00000087085	ENST00000419336;ENST00000241069;ENST00000428317;ENST00000302913;ENST00000412389;ENST00000426415;ENST00000430554;ENST00000411582;ENST00000422451;ENST00000441605	T;T;T;T;T;T;T;T;D	0.82081	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;-1.57	5.02	4.1	0.47936	Carboxylesterase, type B (1);	0.054903	0.64402	D	0.000001	D	0.94656	0.8277	H	0.99746	4.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;P;P;P	0.64237	0.923;0.886;0.831;0.837	D	0.96062	0.9039	10	0.87932	D	0	.	13.1458	0.59461	0.0:0.1625:0.8374:0.0	.	69;69;69;69	B7WPI6;P22303-3;P22303-2;P22303	.;.;.;ACES_HUMAN	V	69	ENSP00000403474:A69V;ENSP00000241069:A69V;ENSP00000414858:A69V;ENSP00000303211:A69V;ENSP00000394976:A69V;ENSP00000397143:A69V;ENSP00000399725:A69V;ENSP00000404865:A69V;ENSP00000396360:A69V	ENSP00000241069:A69V	A	-	2	0	ACHE	100329584	0.927000	0.31430	0.810000	0.32431	0.823000	0.46562	1.504000	0.35726	1.167000	0.42706	0.556000	0.70494	GCG	ACHE	-	pfam_CarbesteraseB	ENSG00000087085		0.657	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0	89	0	G	NM_015831		100491648	-1	tier1	-	no_errors	ENST00000302913	ensembl	human	known	74_37	missense	44.00	42	33	SNP	0.988	A	A	100491648	G	A	100491648	3	1	73	1	0	0	0	0	1	0	0	0	141	1087	38	1	1789	1	ACHE	7	100491648	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	311597	100491648	58647015	91	19530											
RABL5	64792	genome.wustl.edu	37	chr7	100962252	100962252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctcactccttgggttGggctgtattcagtgatgtca	6	14	10	11	0	4	1	4	1	0	0	5	1	5	1	2	2	0	3	2	2	1	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:100962252G>T	ENST00000315322.4	-	2	194	c.101C>A	c.(100-102)cCa>cAa	p.P34Q	RABL5_ENST00000495166.1_Intron|RABL5_ENST00000498704.2_Intron|RABL5_ENST00000517481.1_5'UTR|RABL5_ENST00000437644.2_Missense_Mutation_p.P34Q	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		34					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					TCCTTGGGTTGGGCTGTATTC	0.488																																																	0													165	136	146					7																	100962252		2203	4300	6503	SO:0001583	missense	0																														ENST00000315322.4:c.101C>A	7.37:g.100962252G>T	ENSP00000320359:p.Pro34Gln		Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.P34Q	ENST00000315322.4	37	c.101	CCDS5719.1	7	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636548	0.87760	.	.	ENSG00000128581	ENST00000315322;ENST00000437644	T;D	0.82893	-1.11;-1.66	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91868	0.7426	M	0.84156	2.68	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.92483	0.5994	10	0.87932	D	0	-11.7967	17.5774	0.87955	0.0:0.0:1.0:0.0	.	34;34;34	B7Z2E8;Q9H7X7-2;Q9H7X7	.;.;RABL5_HUMAN	Q	34	ENSP00000320359:P34Q;ENSP00000390770:P34Q	ENSP00000320359:P34Q	P	-	2	0	RABL5	100748972	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.593000	0.90832	2.751000	0.94390	0.655000	0.94253	CCA	RABL5	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	ENSG00000128581		0.488	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1		0	61	0	G			100962252	-1			no_errors	ENST00000315322	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	100962252	G	T	100962252	3	4	73	1	0	0	0	0	1	0	0	0	13018	1348	47	3	472	3	RABL5	7	100962252	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	470604	100962252	58176411	92	19531											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121659264	121659264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttataccccttgtgatcGtgtcagccctgacttttatc	7	15	7	12	1	1	2	1	2	0	0	3	2	1	2	3	0	2	1	3	0	3	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:121659264G>A	ENST00000393386.2	+	13	5341	c.4930G>A	c.(4930-4932)Gtg>Atg	p.V1644M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V784M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1644					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCTTGTGATCGTGTCAGCCCT	0.418																																																	0													232	207	216					7																	121659264		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4930G>A	7.37:g.121659264G>A	ENSP00000377047:p.Val1644Met		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.V1644M	ENST00000393386.2	37	c.4930	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711015	0.89112	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.77877	0.41;-1.13	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000010	D	0.87637	0.6227	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.948;0.992	D	0.88552	0.3117	10	0.87932	D	0	.	19.1031	0.93282	0.0:0.0:1.0:0.0	.	783;784;1644	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	M	1644;784	ENSP00000377047:V1644M;ENSP00000410000:V784M	ENSP00000377047:V1644M	V	+	1	0	PTPRZ1	121446500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.968000	0.76086	2.539000	0.85634	0.585000	0.79938	GTG	PTPRZ1	-	NULL	ENSG00000106278		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	100	0	G	NM_002851		121659264	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	40.40	59	40	SNP	1.000	A	A	121659264	G	A	121659264	3	1	73	1	0	0	0	0	1	0	0	0	12859	1145	40	1	4980	1	PTPRZ1	7	121659264	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	20697012	121659264	37479399	93	19532											
PLXNA4	91584	genome.wustl.edu	37	chr7	131825389	131825389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attcttgtagctggggatgtCcttggcatacagcagcttgt	7	14	12	8	0	1	0	0	0	1	0	2	1	2	1	1	3	4	5	1	3	2	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:131825389C>T	ENST00000359827.3	-	30	6369	c.5407G>A	c.(5407-5409)Gac>Aac	p.D1803N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1803N			Q9HCM2	PLXA4_HUMAN	plexin A4	1803					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGGGGATGTCCTTGGCATAC	0.602																																																	0													87	86	86					7																	131825389		2203	4300	6503	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5407G>A	7.37:g.131825389C>T	ENSP00000352882:p.Asp1803Asn		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D1803N	ENST00000359827.3	37	c.5407	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.745944	0.96882	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.16196	2.36;2.36	5.11	5.11	0.69529	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.099034	0.64402	D	0.000002	T	0.53818	0.1820	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67142	-0.5745	10	0.87932	D	0	.	18.5342	0.91004	0.0:1.0:0.0:0.0	.	1803	Q9HCM2	PLXA4_HUMAN	N	1803	ENSP00000323194:D1803N;ENSP00000352882:D1803N	ENSP00000323194:D1803N	D	-	1	0	PLXNA4	131475929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.367000	0.80283	0.591000	0.81541	GAC	PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	116	0	C	NM_181775		131825389	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	41.77	46	33	SNP	1.000	T	T	131825389	C	T	131825389	3	4	73	1	0	0	0	0	1	0	0	0	12161	855	30	3	289	3	PLXNA4	7	131825389	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	10166125	131825389	27313274	94	19533											
CLCN1	1180	genome.wustl.edu	37	chr7	143020445	143020445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgtgctgctgtcctcaGcaaattcatgtctgtgttct	6	16	8	11	0	5	0	2	0	3	0	6	0	6	0	1	0	3	4	1	0	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:143020445G>T	ENST00000343257.2	+	6	827	c.740G>T	c.(739-741)aGc>aTc	p.S247I	CLCN1_ENST00000495612.1_Intron	NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	247					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCTGTCCTCAGCAAATTCATG	0.602																																																	0													113	100	105					7																	143020445		2203	4300	6503	SO:0001583	missense	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.740G>T	7.37:g.143020445G>T	ENSP00000339867:p.Ser247Ile		A4D2H5|Q2M202	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1	p.S247I	ENST00000343257.2	37	c.740	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	.	25.0	4.594510	0.86953	.	.	ENSG00000188037	ENST00000343257	D	0.94897	-3.55	4.27	4.27	0.50696	Chloride channel, core (2);	0.090695	0.85682	D	0.000000	D	0.97259	0.9104	M	0.82433	2.59	0.53688	D	0.999979	D	0.89917	1.0	D	0.83275	0.996	D	0.98160	1.0446	10	0.87932	D	0	.	16.9618	0.86274	0.0:0.0:1.0:0.0	.	247	P35523	CLCN1_HUMAN	I	247	ENSP00000339867:S247I	ENSP00000339867:S247I	S	+	2	0	CLCN1	142730567	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.625000	0.98406	2.219000	0.72066	0.650000	0.86243	AGC	CLCN1	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000188037		0.602	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	HGNC	protein_coding	OTTHUMT00000327420.1		0	61	0	G	NM_000083		143020445	1			no_errors	ENST00000343257	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	143020445	G	T	143020445	3	4	73	1	0	0	0	0	1	0	0	0	3469	971	34	3	762	3	CLCN1	7	143020445	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	11195056	143020445	16118218	95	19534											
GIMAP4	55303	genome.wustl.edu	37	chr7	150269569	150269569	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaaagccacagagaagatCctgaaaatgtttggagagag	17	6	11	7	0	0	4	0	1	0	3	1	7	1	5	2	1	1	1	2	1	4	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:150269569C>A	ENST00000255945.2	+	3	586	c.411C>A	c.(409-411)atC>atA	p.I137I	GIMAP4_ENST00000461940.1_Silent_p.I151I|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	137	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGAAGATCCTGAAAATGT	0.483																																																	0													80	77	78					7																	150269569		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"GTPases, IMAP"	21872	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 1"	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.411C>A	7.37:g.150269569C>A				Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.I137	ENST00000255945.2	37	c.411	CCDS5904.1	7																																																																																			GIMAP4	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000133574		0.483	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP4	HGNC	protein_coding	OTTHUMT00000348927.1	-	0	57	0	C	NM_018326		150269569	1	tier1	-	no_errors	ENST00000255945	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.019	A	A	150269569	C	A	150269569	2	1	73	1	0	0	0	0	0	0	0	1	6407	845	30	3		3	GIMAP4	7	150269569	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	7249124	150269569	8869094	96	19535											
PTPRN2	5799	genome.wustl.edu	37	chr7	157903567	157903567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcaggaggcgggcgaCgtcctccaccagccgccttc	6	5	12	18	4	0	0	0	0	0	0	3	2	2	1	6	3	2	1	6	3	0	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr7:157903567C>T	ENST00000389418.4	-	10	1606	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	PTPRN2_ENST00000409483.1_Missense_Mutation_p.V495I|PTPRN2_ENST00000389416.4_Missense_Mutation_p.V516I|PTPRN2_ENST00000389413.3_Intron|PTPRN2_ENST00000404321.2_Missense_Mutation_p.V556I	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	533					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCGGGCGACGTCCTCCACC	0.647																																																	0													38	27	31					7																	157903567		2177	4280	6457	SO:0001583	missense	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1597G>A	7.37:g.157903567C>T	ENSP00000374069:p.Val533Ile		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V556I	ENST00000389418.4	37	c.1666	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755879	0.49362	.	.	ENSG00000155093	ENST00000409483;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T	0.03801	3.82;3.81;3.82;3.8	4.68	-3.42	0.04825	.	0.798245	0.09881	N	0.743731	T	0.06600	0.0169	L	0.46157	1.445	0.09310	N	1	P;P;B;P	0.51537	0.933;0.946;0.018;0.946	B;P;B;P	0.47430	0.411;0.547;0.012;0.547	T	0.20371	-1.0277	10	0.42905	T	0.14	.	9.0689	0.36480	0.0:0.6868:0.2238:0.0895	.	556;495;516;533	Q92932-3;E7EM83;E9PC57;Q92932	.;.;.;PTPR2_HUMAN	I	495;516;533;556	ENSP00000387114:V495I;ENSP00000374067:V516I;ENSP00000374069:V533I;ENSP00000385464:V556I	ENSP00000374067:V516I	V	-	1	0	PTPRN2	157596328	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.390000	0.07332	-0.781000	0.04548	-1.442000	0.01069	GTC	PTPRN2	-	pfam_Receptor_IA-2	ENSG00000155093		0.647	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	-	0	61	0	C			157903567	-1	tier1	-	no_errors	ENST00000404321	ensembl	human	known	74_37	missense	43.86	32	25	SNP	0.000	T	T	157903567	C	T	157903567	3	4	73	1	0	0	0	0	1	0	0	0	12853	536	19	1	1506	1	PTPRN2	7	157903567	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	7633998	157903567	1235096	97	19536											
CSMD1	64478	genome.wustl.edu	37	chr8	2857633	2857633	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaccgttcacaatcgggtCtggggaaccgcagtggccag	8	7	15	11	3	2	1	1	1	1	0	3	2	2	2	3	4	1	2	3	4	2	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:2857633C>G	ENST00000520002.1	-	54	8608	c.8053G>C	c.(8053-8055)Gac>Cac	p.D2685H	CSMD1_ENST00000602557.1_Missense_Mutation_p.D2685H|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2626H|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2684H|CSMD1_ENST00000602723.1_Missense_Mutation_p.D2627H|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2627H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2685	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCGGGTCTGGGGAACCG	0.418																																																	0													73	72	72					8																	2857633		1882	4107	5989	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8053G>C	8.37:g.2857633C>G	ENSP00000430733:p.Asp2685His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.D2685H	ENST00000520002.1	37	c.8053		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.040921|4.040921	0.75732|0.75732	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65460|0.65460	0.2693|0.2693	L|L	0.33668|0.33668	1.02|1.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.76575|.	0.969;0.972;0.988|.	T|T	0.58086|0.58086	-0.7698|-0.7698	10|5	0.45353|.	T|.	0.12|.	.|.	20.3473|20.3473	0.98799|0.98799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2685;2685;2626|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	H|T	2627;2685;2546;2684;2626|2101	ENSP00000383047:D2627H;ENSP00000430733:D2685H;ENSP00000441462:D2684H;ENSP00000446243:D2626H|.	ENSP00000320445:D2546H|.	D|R	-|-	1|2	0|0	CSMD1|CSMD1	2845040|2845040	1.000000|1.000000	0.71417|0.71417	0.393000|0.393000	0.26258|0.26258	0.512000|0.512000	0.34134|0.34134	7.570000|7.570000	0.82390|0.82390	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAC|AGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	62	0	C	NM_033225		2857633	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	73.33	8	22	SNP	1.000	G	G	2857633	C	G	2857633	3	3	73	1	0	0	0	0	1	0	0	0	3953	913	32	5	2716	5	CSMD1	8	2857633	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		2857633	143506389	98	19537											
C8orf74	203076	genome.wustl.edu	37	chr8	10532174	10532174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaccacaaggtcgggagCgcctgcggaggcttctgaac	10	5	15	11	3	1	2	0	1	1	1	2	5	1	4	2	4	3	1	2	4	2	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:10532174C>T	ENST00000304519.5	+	2	96	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	C8orf74_ENST00000524025.1_3'UTR|RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	23										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCGGGAGCGCCTGCGGAG	0.572																																																	0													33	36	35					8																	10532174		1903	4116	6019	SO:0001583	missense	0			BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.67C>T	8.37:g.10532174C>T	ENSP00000307129:p.Arg23Cys		A2RUD6	Missense_Mutation	SNP	NULL	p.R23C	ENST00000304519.5	37	c.67	CCDS47800.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.87|10.87	1.472386|1.472386	0.26423|0.26423	.|.	.|.	ENSG00000171060|ENSG00000171060	ENST00000521818|ENST00000304519	.|T	.|0.33216	.|1.42	5.06|5.06	3.24|3.24	0.37175|0.37175	.|.	.|0.775970	.|0.11967	.|N	.|0.512147	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.14661|0.14661	0.345|0.345	0.19775|0.19775	N|N	0.999954|0.999954	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.15578|0.15578	-1.0432|-1.0432	5|10	.|0.41790	.|T	.|0.15	.|.	6.8402|6.8402	0.23959|0.23959	0.0:0.7905:0.0:0.2095|0.0:0.7905:0.0:0.2095	.|.	.|23	.|Q6P047	.|CH074_HUMAN	V|C	21|23	.|ENSP00000307129:R23C	.|ENSP00000307129:R23C	A|R	+|+	2|1	0|0	C8orf74|C8orf74	10569584|10569584	0.098000|0.098000	0.21812|0.21812	0.702000|0.702000	0.30337|0.30337	0.110000|0.110000	0.19582|0.19582	0.481000|0.481000	0.22260|0.22260	1.113000|1.113000	0.41760|0.41760	0.430000|0.430000	0.28490|0.28490	GCG|CGC	C8orf74	-	NULL	ENSG00000171060		0.572	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf74	HGNC	protein_coding	OTTHUMT00000375675.1	-	0	37	0	C	NM_001040032		10532174	1	tier1	-	no_errors	ENST00000304519	ensembl	human	known	74_37	missense	75.00	4	12	SNP	0.223	T	T	10532174	C	T	10532174	3	4	73	1	0	0	0	0	1	0	0	0	2443	768	27	1	73	1	C8orf74	8	10532174	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	7674541	10532174	135831848	99	19538											
ZMAT4	79698	genome.wustl.edu	37	chr8	40438734	40438734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatactgttctattgaGtttagggagacactgcagat	11	13	11	6	0	1	4	0	2	1	2	1	5	1	4	0	1	2	4	0	1	3	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:40438734G>T	ENST00000297737.6	-	6	770	c.624C>A	c.(622-624)aaC>aaA	p.N208K	ZMAT4_ENST00000315769.7_Missense_Mutation_p.N132K	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	208						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GTTCTATTGAGTTTAGGGAGA	0.438																																																	0													218	177	191					8																	40438734		2203	4300	6503	SO:0001583	missense	0			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"Zinc fingers, matrin-type"	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.624C>A	8.37:g.40438734G>T	ENSP00000297737:p.Asn208Lys		Q8WUT8	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.N208K	ENST00000297737.6	37	c.624	CCDS34885.1	8	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129738	0.77549	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.48522	1.89;1.89;0.81	5.65	4.78	0.61160	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.045304	0.85682	D	0.000000	T	0.68842	0.3045	M	0.80982	2.52	0.44562	D	0.997523	D;D	0.89917	0.998;1.0	D;D	0.91635	0.972;0.999	T	0.73385	-0.3999	10	0.87932	D	0	-40.9365	12.3327	0.55049	0.0815:0.0:0.9185:0.0	.	132;208	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	K	132;208;208	ENSP00000319785:N132K;ENSP00000297737:N208K;ENSP00000428423:N208K	ENSP00000297737:N208K	N	-	3	2	ZMAT4	40557891	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	4.652000	0.61454	1.385000	0.46445	0.655000	0.94253	AAC	ZMAT4	-	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000165061		0.438	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	HGNC	protein_coding	OTTHUMT00000376950.1	-	0	84	0	G	NM_024645		40438734	-1	tier1	-	no_errors	ENST00000297737	ensembl	human	known	74_37	missense	80.39	10	41	SNP	1.000	T	T	40438734	G	T	40438734	3	4	73	1	0	0	0	0	1	0	0	0	17742	1020	36	3	73	3	ZMAT4	8	40438734	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	29906560	40438734	105925288	100	19539											
RP1	6101	genome.wustl.edu	37	chr8	55542526	55542526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaatttcaaccagatttGaaggaaaggttttgtatgaa	17	12	9	3	0	1	4	1	2	0	2	1	5	1	5	1	2	1	2	1	2	7	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:55542526G>A	ENST00000220676.1	+	4	6232	c.6084G>A	c.(6082-6084)ttG>ttA	p.L2028L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2028					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACCAGATTTGAAGGAAAGGT	0.338																																					Colon(91;1014 1389 7634 14542 40420)												0													82	87	85					8																	55542526		2202	4299	6501	SO:0001819	synonymous_variant	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.6084G>A	8.37:g.55542526G>A				Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L2028	ENST00000220676.1	37	c.6084	CCDS6160.1	8																																																																																			RP1	-	NULL	ENSG00000104237		0.338	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	73	0	G	NM_006269		55542526	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	silent	30.30	46	20	SNP	0.000	A	A	55542526	G	A	55542526	2	1	73	1	0	0	0	0	0	0	0	1	13577	1281	45	3		3	RP1	8	55542526	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	15103792	55542526	90821496	101	19540											
PREX2	80243	genome.wustl.edu	37	chr8	68993013	68993013	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagctatggctttggAttagaagacaaaaataaagt	17	9	11	4	0	0	2	0	0	0	2	0	4	0	3	0	3	1	3	0	3	8	4	rs12682458|rs368406603	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:68993013A>T	ENST00000288368.4	+	17	2095	c.1818A>T	c.(1816-1818)ggA>ggT	p.G606G	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	606	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGGCTTTGGATTAGAAGACA	0.279																																																	0													66	71	69					8																	68993013		2202	4297	6499	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1818A>T	8.37:g.68993013A>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G606	ENST00000288368.4	37	c.1818	CCDS6201.1	8																																																																																			PREX2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000046889		0.279	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	137	0	A	NM_025170		68993013	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	silent	24.09	104	33	SNP	0.442	T	T	68993013	A	T	68993013	2	4	73	1	0	0	0	0	0	0	0	1	12519	320	12	5		5	PREX2	8	68993013	Silent	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	13450487	68993013	77371009	102	19541											
JPH1	56704	genome.wustl.edu	37	chr8	75227448	75227448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgggcaaaaatcacaatCtacatcgccaaagctgatcg	15	6	7	13	3	2	1	1	1	1	0	4	1	2	1	2	1	2	2	2	1	5	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:75227448C>A	ENST00000342232.4	-	2	827	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	263					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AAATCACAATCTACATCGCCA	0.572																																																	0													95	89	91					8																	75227448		2203	4300	6503	SO:0001583	missense	0			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.787G>T	8.37:g.75227448C>A	ENSP00000344488:p.Asp263Tyr		B2RTZ0	Missense_Mutation	SNP	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.D263Y	ENST00000342232.4	37	c.787	CCDS6217.1	8	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432336	0.62844	.	.	ENSG00000104369	ENST00000342232	T	0.58210	0.35	4.89	4.89	0.63831	.	0.102236	0.64402	D	0.000003	T	0.64702	0.2622	L	0.40543	1.245	0.54753	D	0.999987	D	0.89917	1.0	D	0.67231	0.95	T	0.66834	-0.5823	10	0.59425	D	0.04	.	18.2573	0.90023	0.0:1.0:0.0:0.0	.	263	Q9HDC5	JPH1_HUMAN	Y	263	ENSP00000344488:D263Y	ENSP00000344488:D263Y	D	-	1	0	JPH1	75390003	0.993000	0.37304	0.565000	0.28409	0.865000	0.49528	3.799000	0.55529	2.519000	0.84933	0.655000	0.94253	GAT	JPH1	-	pirsf_Junctophilin	ENSG00000104369		0.572	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH1	HGNC	protein_coding	OTTHUMT00000379102.1	-	0	75	0	C			75227448	-1	tier1	-	no_errors	ENST00000342232	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.993	A	A	75227448	C	A	75227448	3	1	73	1	0	0	0	0	1	0	0	0	7987	913	32	3	1214	3	JPH1	8	75227448	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	6234435	75227448	71136574	103	19542											
LRP12	29967	genome.wustl.edu	37	chr8	105601095	105601095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caacgcagacctccaccgcgGagactcttttgtgctccagc	8	8	9	16	3	1	2	0	0	1	2	3	3	3	2	4	1	3	2	4	1	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr8:105601095G>A	ENST00000276654.5	-	1	139	c.31C>T	c.(31-33)Ccg>Tcg	p.P11S	RP11-127H5.1_ENST00000521923.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.P11S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	11					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCCACCGCGGAGACTCTTTT	0.622																																																	0													68	56	60					8																	105601095		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.31C>T	8.37:g.105601095G>A	ENSP00000276654:p.Pro11Ser		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.P11S	ENST00000276654.5	37	c.31	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277912	0.40294	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523830	D;D	0.83075	-1.68;-1.58	4.0	3.12	0.35913	.	0.550330	0.14518	U	0.314626	T	0.66557	0.2801	N	0.08118	0	0.80722	D	1	B;B;B	0.19445	0.036;0.007;0.002	B;B;B	0.12156	0.003;0.007;0.007	T	0.61422	-0.7066	10	0.59425	D	0.04	-1.2386	9.2326	0.37446	0.1061:0.0:0.8939:0.0	.	11;11;11	Q68DE8;Q9Y561-2;Q9Y561	.;.;LRP12_HUMAN	S	11	ENSP00000399148:P11S;ENSP00000276654:P11S	ENSP00000276654:P11S	P	-	1	0	LRP12	105670271	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.971000	0.49248	0.873000	0.35799	0.655000	0.94253	CCG	LRP12	-	NULL	ENSG00000147650		0.622	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	132	0	G	NM_013437		105601095	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	56.41	68	88	SNP	1.000	A	A	105601095	G	A	105601095	3	1	73	1	0	0	0	0	1	0	0	0	8989	1174	41	3	2576	3	LRP12	8	105601095	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	30373647	105601095	40762927	104	19543											
SLC24A2	25769	genome.wustl.edu	37	chr9	19516162	19516162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctgctagatggagaCggggcatgtaagaattctgt	9	13	12	7	1	1	3	0	0	1	3	2	4	2	3	1	3	1	3	1	3	3	5	rs138630242		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr9:19516162C>T	ENST00000341998.2	-	10	2036	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.V642I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	659					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TAGATGGAGACGGGGCATGTA	0.512																																																	0								C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	187	179	182		1924,1975	3.5	1	9	dbSNP_134	182	0,8600		0,0,4300	yes	missense,missense	SLC24A2	NM_001193288.2,NM_020344.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	642/645,659/662	19516162	1,13005	2203	4300	6503	SO:0001583	missense	0			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"Solute carriers"	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1975G>A	9.37:g.19516162C>T	ENSP00000344801:p.Val659Ile		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.V659I	ENST00000341998.2	37	c.1975	CCDS6493.1	9	.	.	.	.	.	.	.	.	.	.	C	8.943	0.966274	0.18659	2.27E-4	0.0	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.77877	-1.11;-1.13	5.42	3.55	0.40652	.	0.125951	0.53938	D	0.000050	T	0.67382	0.2887	L	0.38733	1.17	0.44579	D	0.997545	B;B	0.23937	0.094;0.074	B;B	0.27262	0.078;0.056	T	0.62044	-0.6937	9	.	.	.	.	12.4061	0.55441	0.0:0.8773:0.0:0.1227	.	642;659	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	I	659;642	ENSP00000344801:V659I;ENSP00000286344:V642I	.	V	-	1	0	SLC24A2	19506162	0.925000	0.31364	0.997000	0.53966	0.222000	0.24845	2.004000	0.40854	2.549000	0.85964	0.655000	0.94253	GTC	SLC24A2	-	NULL	ENSG00000155886		0.512	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A2	HGNC	protein_coding	OTTHUMT00000051866.2	-	0	58	0	C	NM_020344		19516162	-1	tier1	rs138630242	no_errors	ENST00000341998	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.996	T	T	19516162	C	T	19516162	3	4	73	1	0	0	0	0	1	0	0	0	14511	536	19	1	14	1	SLC24A2	9	19516162	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		19516162	121697269	105	19544											
PRSS3	5646	genome.wustl.edu	37	chr9	33798037	33798037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctccagctgctggcacTgagtgcctcatctccggctg	5	9	10	17	1	2	1	1	1	1	0	4	1	3	1	5	2	3	4	5	2	0	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr9:33798037T>C	ENST00000361005.5	+	3	582	c.582T>C	c.(580-582)acT>acC	p.T194T	PRSS3_ENST00000429677.3_Silent_p.T130T|PRSS3_ENST00000379405.3_Silent_p.T137T|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Silent_p.T151T	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	194	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CTGCTGGCACTGAGTGCCTCA	0.562																																																	0													161	127	138					9																	33798037		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.582T>C	9.37:g.33798037T>C			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T194	ENST00000361005.5	37	c.582	CCDS47958.1	9																																																																																			PRSS3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000010438		0.562	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1		0	64	0	T	NM_002771		33798037	1			no_errors	ENST00000361005	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.688	C	C	33798037	T	C	33798037	2	2	73	1	0	0	0	0	0	0	0	1	12664	1567	55	4		4	PRSS3	9	33798037	Silent	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	14281875	33798037	107415394	106	19545											
NUP188	23511	genome.wustl.edu	37	chr9	131742885	131742885	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtccccttccaccacagGagccaacttctggccttggg	6	11	9	15	0	1	0	0	0	1	0	3	1	3	1	6	3	2	0	6	3	1	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr9:131742885G>A	ENST00000372577.2	+	14	1291	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	424					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCACCACAGGAGCCAACTTC	0.463																																																	0													141	120	127					9																	131742885		2203	4300	6503	SO:0001630	splice_region_variant	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"KIAA0169"	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1270-1G>A	9.37:g.131742885G>A			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.E424K	ENST00000372577.2	37	c.1270	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130892	0.56828	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.34859	1.34	5.54	5.54	0.83059	.	0.090883	0.85682	D	0.000000	T	0.24084	0.0583	N	0.12182	0.205	0.58432	D	0.999994	B	0.09022	0.002	B	0.15052	0.012	T	0.07195	-1.0785	9	.	.	.	-26.6329	18.8301	0.92135	0.0:0.0:1.0:0.0	.	424	Q5SRE5	NU188_HUMAN	K	313;424	ENSP00000361658:E424K	.	E	+	1	0	NUP188	130782706	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.337000	0.79256	2.764000	0.94973	0.655000	0.94253	GAG	NUP188	-	pfam_Nucleoporin_Nup188	ENSG00000095319		0.463	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	-	0	113	0	G		Missense_Mutation	131742885	1	tier1	-	no_errors	ENST00000372577	ensembl	human	known	74_37	missense	8.55	107	10	SNP	1.000	A	A	131742885	G	A	131742885	5	1	73	1	0	0	0	0	0	0	1	0	10797	1188	41	3	1324	3	NUP188	9	131742885	Splice_Site	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	97944848	131742885	9470546	107	19546											
CAMK1D	57118	genome.wustl.edu	37	chr10	12802957	12802957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttgccagggtgtccggtGgagagctgtttgaccggata	6	13	15	7	2	0	2	0	1	0	1	1	4	1	3	3	4	2	2	3	4	1	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:12802957G>A	ENST00000378847.3	+	4	647	c.310G>A	c.(310-312)Gga>Aga	p.G104R	CAMK1D_ENST00000378845.1_Missense_Mutation_p.G104R	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGTGTCCGGTGGAGAGCTGTT	0.443																																																	0													108	105	106					10																	12802957		2203	4300	6503	SO:0001583	missense	0			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.310G>A	10.37:g.12802957G>A	ENSP00000368124:p.Gly104Arg		B0YIY0|Q9HD31	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G104R	ENST00000378847.3	37	c.310	CCDS7091.1	10	.	.	.	.	.	.	.	.	.	.	G	19.77	3.890024	0.72524	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.57273	0.41;0.41	5.71	5.71	0.89125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.103766	0.64402	D	0.000003	T	0.76601	0.4010	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.77389	-0.2606	10	0.46703	T	0.11	-19.2442	18.8366	0.92165	0.0:0.0:1.0:0.0	.	104;104	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	R	104	ENSP00000368124:G104R;ENSP00000368122:G104R	ENSP00000368122:G104R	G	+	1	0	CAMK1D	12842963	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	9.869000	0.99810	2.684000	0.91462	0.655000	0.94253	GGA	CAMK1D	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183049		0.443	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1D	HGNC	protein_coding	OTTHUMT00000046820.1	-	0	67	0	G	NM_020397		12802957	1	tier1	-	no_errors	ENST00000378847	ensembl	human	known	74_37	missense	21.31	48	13	SNP	1.000	A	A	12802957	G	A	12802957	3	1	73	1	0	0	0	0	1	0	0	0	2604	1349	47	3	324	3	CAMK1D	10	12802957	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		12802957	122731790	108	19547											
FAM171A1	221061	genome.wustl.edu	37	chr10	15256431	15256431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttcgtgccgggggcctCggggcggccgtggctggtga	1	9	19	12	5	0	1	0	1	0	0	3	1	1	1	4	7	1	1	4	7	0	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:15256431C>T	ENST00000378116.4	-	8	1162	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	386						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGGGGGCCTCGGGGCGGCCG	0.602																																																	0													37	44	41					10																	15256431		2203	4300	6503	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1156G>A	10.37:g.15256431C>T	ENSP00000367356:p.Glu386Lys		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.E386K	ENST00000378116.4	37	c.1156	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335655	0.24253	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.31510	1.49	4.96	4.06	0.47325	.	0.590539	0.17283	N	0.179940	T	0.20007	0.0481	N	0.25647	0.755	0.09310	N	1	P	0.36249	0.545	B	0.28784	0.094	T	0.10917	-1.0609	10	0.59425	D	0.04	-10.0929	11.9259	0.52819	0.0:0.9195:0.0:0.0805	.	386	Q5VUB5	F1711_HUMAN	K	386;387	ENSP00000367356:E386K	ENSP00000367356:E386K	E	-	1	0	FAM171A1	15296437	.	.	0.438000	0.26821	0.253000	0.25986	.	.	1.306000	0.44926	0.563000	0.77884	GAG	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.602	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1		0	50	0	C	XM_167709		15256431	-1			no_errors	ENST00000378116	ensembl	human	known	74_37	missense	10.42	42	5	SNP	0.073	T	T	15256431	C	T	15256431	3	4	73	1	0	0	0	0	1	0	0	0	5509	893	31	1	1520	1	FAM171A1	10	15256431	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	2453474	15256431	120278316	109	19548											
BICC1	80114	genome.wustl.edu	37	chr10	60577321	60577321	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctcctttgcctttcaGcggaacactatctcagcagt	7	14	7	13	1	3	0	2	0	2	0	6	1	4	1	2	1	4	1	2	1	2	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:60577321G>A	ENST00000373886.3	+	19	2537		c.e19-1			NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTGCCTTTCAGCGGAACACTA	0.398																																																	0													117	112	113					10																	60577321		2203	4300	6503	SO:0001630	splice_region_variant	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2534-1G>A	10.37:g.60577321G>A				Splice_Site	SNP	-	e19-1	ENST00000373886.3	37	c.2534-1	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844315	0.71488	.	.	ENSG00000122870	ENST00000373886	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6328	0.62204	0.0717:0.0:0.9283:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BICC1	60247327	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.282000	0.72639	1.507000	0.48752	0.563000	0.77884	.	BICC1	-	-	ENSG00000122870		0.398	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0	73	0	G	NM_025044	Intron	60577321	1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	splice_site	29.79	33	14	SNP	1.000	A	A	60577321	G	A	60577321	5	1	73	1	0	0	0	0	0	0	1	0	1429	985	34	3	2607	3	BICC1	10	60577321	Splice_Site	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	45320890	60577321	74957426	110	19549											
REEP3	221035	genome.wustl.edu	37	chr10	65359025	65359025	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgcagctactgctgcTgttactgcagcagtaaaggt	10	11	10	10	0	0	0	0	0	0	0	0	0	0	0	1	1	9	8	1	1	5	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:65359025T>A	ENST00000373758.4	+	5	582	c.399T>A	c.(397-399)gcT>gcA	p.A133A	REEP3_ENST00000298249.4_Silent_p.A118A	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	133					mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|nuclear envelope organization (GO:0006998)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTACTGCTGCTGTTACTGCAG	0.363																																																	0													64	62	62					10																	65359025		1838	4080	5918	SO:0001819	synonymous_variant	0			BC057832	CCDS44411.1	10q21.3	2011-01-05	2006-02-07	2006-02-07	ENSG00000165476	ENSG00000165476		"Receptor accessory proteins"	23711	protein-coding gene	gene with protein product		609348	"chromosome 10 open reading frame 74"	C10orf74		16271481, 15550249	Standard	NM_001001330		Approved		uc001jmt.3	Q6NUK4	OTTHUMG00000018318	ENST00000373758.4:c.399T>A	10.37:g.65359025T>A			Q5JQR5|Q5QGT2|Q6PEW8|Q6PJY4	Silent	SNP	pfam_TB2_DP1_HVA22	p.A133	ENST00000373758.4	37	c.399	CCDS44411.1	10																																																																																			REEP3	-	NULL	ENSG00000165476		0.363	REEP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP3	HGNC	protein_coding			0	41	0	T	NM_001001330		65359025	1			no_errors	ENST00000373758	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.256	A	A	65359025	T	A	65359025	2	1	73	1	0	0	0	0	0	0	0	1	13251	1567	55	5		5	REEP3	10	65359025	Silent	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	4781704	65359025	70175722	111	19550											
CHST3	9469	genome.wustl.edu	37	chr10	73767768	73767768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagaagtggctggacGacgagggccaggacggcctg	9	4	18	10	3	0	1	0	0	0	1	0	6	0	4	3	6	0	1	3	6	2	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:73767768G>T	ENST00000373115.4	+	3	1416	c.979G>T	c.(979-981)Gac>Tac	p.D327Y		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	327					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GTGGCTGGACGACGAGGGCCA	0.711																																																	0																																										SO:0001583	missense	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.979G>T	10.37:g.73767768G>T	ENSP00000362207:p.Asp327Tyr		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.D327Y	ENST00000373115.4	37	c.979	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	G	5.128	0.209284	0.09757	.	.	ENSG00000122863	ENST00000373115	D	0.82344	-1.6	5.55	2.58	0.30949	Sulfotransferase domain (1);	0.450870	0.25610	N	0.029490	T	0.73690	0.3619	L	0.41492	1.28	0.09310	N	1	B	0.22211	0.066	B	0.12837	0.008	T	0.64214	-0.6460	10	0.66056	D	0.02	.	8.5761	0.33598	0.0718:0.0:0.4106:0.5176	.	327	Q7LGC8	CHST3_HUMAN	Y	327	ENSP00000362207:D327Y	ENSP00000362207:D327Y	D	+	1	0	CHST3	73437774	0.000000	0.05858	0.749000	0.31150	0.609000	0.37215	-0.031000	0.12287	0.262000	0.21774	0.561000	0.74099	GAC	CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.711	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	-	0	18	0	G	NM_004273		73767768	1	tier1	-	no_errors	ENST00000373115	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.008	T	T	73767768	G	T	73767768	3	4	73	1	0	0	0	0	1	0	0	0	3412	1058	37	2	985	2	CHST3	10	73767768	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	8408743	73767768	61766979	112	19551											
PTEN	5728	genome.wustl.edu	37	chr10	89711968	89711968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccagtggcactgttgtttCacaagatgatgtttgaaact	11	13	10	7	0	1	3	1	2	0	1	1	4	1	3	1	1	1	4	1	1	2	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:89711968C>T	ENST00000371953.3	+	6	1943	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	196	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H196fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTGTTGTTTCACAAGATGAT	0.403		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)|Insertion - Frameshift(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	GRCh37	CD982915	PTEN	D							153	152	152					10																	89711968		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.586C>T	10.37:g.89711968C>T	ENSP00000361021:p.His196Tyr		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H196Y	ENST00000371953.3	37	c.586	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.171720	0.94807	.	.	ENSG00000171862	ENST00000371953	D	0.86097	-2.07	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093707	0.85682	D	0.000000	D	0.90075	0.6900	M	0.62723	1.935	0.80722	D	1	D	0.63880	0.993	P	0.57620	0.824	D	0.88558	0.3121	9	.	.	.	-3.1285	20.1698	0.98157	0.0:1.0:0.0:0.0	.	196	P60484	PTEN_HUMAN	Y	196	ENSP00000361021:H196Y	.	H	+	1	0	PTEN	89701948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.777000	0.95525	0.585000	0.79938	CAC	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1		0	33	0	C	NM_000314		89711968	1			no_errors	ENST00000371953	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	89711968	C	T	89711968	3	4	73	1	0	0	0	0	1	0	0	0	12780	826	29	3	608	3	PTEN	10	89711968	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	15944200	89711968	45822779	113	19552											
RNLS	55328	genome.wustl.edu	37	chr10	90074274	90074274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattggctgaggcaaaccCggcaaaatgttttccagctg	11	9	11	10	1	0	1	0	1	0	0	1	1	1	1	2	3	2	6	2	3	4	3	rs201629674		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:90074274C>T	ENST00000331772.4	-	6	847	c.825G>A	c.(823-825)ccG>ccA	p.P275P	RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Silent_p.P192P|RNLS_ENST00000371947.3_Silent_p.P275P	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	275					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						GAGGCAAACCCGGCAAAATGT	0.433																																																	0													134	121	126					10																	90074274		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.825G>A	10.37:g.90074274C>T			Q9BS33|Q9NUP8	Silent	SNP	pfam_Amino_oxidase	p.P275	ENST00000331772.4	37	c.825	CCDS31239.1	10																																																																																			RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.433	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0	109	0	C	NM_018363		90074274	-1	tier1	rs201629674	no_errors	ENST00000331772	ensembl	human	known	74_37	silent	32.47	52	25	SNP	0.993	T	T	90074274	C	T	90074274	2	4	73	1	0	0	0	0	0	0	0	1	13550	639	23	1		1	RNLS	10	90074274	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	362306	90074274	45460473	114	19553											
PLCE1	51196	genome.wustl.edu	37	chr10	96039597	96039597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgggaatgccaacccccGacctgccaataatgaggaag	12	6	12	11	1	0	1	0	1	0	0	0	4	0	3	5	3	3	0	5	3	5	1	rs2274224	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:96039597G>A	ENST00000371380.3	+	19	4959	c.4724G>A	c.(4723-4725)cGa>cAa	p.R1575Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R1267Q|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1-AS1_ENST00000596633.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1267Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1575Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1575			R -> P (in dbSNP:rs2274224).	R -> Q (in Ref. 2; AAG28341). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCCAACCCCCGACCTGCCAAT	0.423											OREG0020383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82	86	85					10																	96039597		1894	4112	6006	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4724G>A	10.37:g.96039597G>A	ENSP00000360431:p.Arg1575Gln	1317	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R1575Q	ENST00000371380.3	37	c.4724	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380826	0.82792	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.22945	1.94;1.94;1.93;1.93	5.53	4.64	0.57946	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.611593	0.17706	N	0.164757	T	0.11452	0.0279	N	0.08118	0	0.80722	P	0.0	B;B;B	0.15473	0.013;0.006;0.013	B;B;B	0.04013	0.001;0.001;0.001	T	0.20240	-1.0281	9	0.18276	T	0.48	.	6.471	0.22007	0.1357:0.664:0.1307:0.0695	.	1559;1267;1575	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1575;1575;1267;1267	ENSP00000260766:R1575Q;ENSP00000360431:R1575Q;ENSP00000360438:R1267Q;ENSP00000360426:R1267Q	ENSP00000260766:R1575Q	R	+	2	0	PLCE1	96029587	0.000000	0.05858	0.998000	0.56505	0.819000	0.46315	0.795000	0.26972	0.920000	0.36970	-0.738000	0.03535	CGA	PLCE1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000138193		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	68	0	G	NM_016341		96039597	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	18.92	60	14	SNP	0.467	A	A	96039597	G	A	96039597	3	1	73	1	0	0	0	0	1	0	0	0	12073	1058	37	1	5084	1	PLCE1	10	96039597	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	5965323	96039597	39495150	115	19554											
HSPA12A	259217	genome.wustl.edu	37	chr10	118435975	118435975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcatctggactcatcCgcagcatcccctgcgaggac	8	8	10	15	2	3	0	2	0	1	0	5	3	5	2	3	3	2	3	3	3	0	0	rs371358207		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:118435975C>T	ENST00000369209.3	-	11	1429	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	442						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGACTCATCCGCAGCATCCC	0.552																																																	0								C	GLN/ARG	0,4232		0,0,2116	127	128	128		1325	5.7	1	10		128	1,8507		0,1,4253	no	missense	HSPA12A	NM_025015.2	43	0,1,6369	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	442/676	118435975	1,12739	2116	4254	6370	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1325G>A	10.37:g.118435975C>T	ENSP00000358211:p.Arg442Gln			Missense_Mutation	SNP	NULL	p.R442Q	ENST00000369209.3	37	c.1325	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.853778	0.97030	0.0	1.18E-4	ENSG00000165868	ENST00000369209	T	0.29917	1.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58405	-0.7642	10	0.56958	D	0.05	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	442	O43301	HS12A_HUMAN	Q	442	ENSP00000358211:R442Q	ENSP00000358211:R442Q	R	-	2	0	HSPA12A	118425965	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.824000	0.97209	0.655000	0.94253	CGG	HSPA12A	-	NULL	ENSG00000165868		0.552	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0	59	0	C	NM_025015		118435975	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	T	T	118435975	C	T	118435975	3	4	73	1	0	0	0	0	1	0	0	0	7431	652	23	1	710	1	HSPA12A	10	118435975	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	22396378	118435975	17098772	116	19555											
ACADSB	36	genome.wustl.edu	37	chr10	124810675	124810675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccattcataaaagaagcGtcaatggccaaatactatgc	17	8	7	9	1	2	1	2	0	0	1	2	1	2	1	2	1	4	0	2	1	8	4	rs145295182		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:124810675G>A	ENST00000358776.4	+	9	1115	c.1101G>A	c.(1099-1101)gcG>gcA	p.A367A	ACADSB_ENST00000368869.4_Silent_p.A265A	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	367					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)|Valproic Acid(DB00313)	TAAAAGAAGCGTCAATGGCCA	0.353													a|||	1	0.000199681	8e-04	0	5008	,	,		11708	0		0	False		,,,				2504	0																0										1,4405	824.0+/-416.5	0,1,2202	37	36	37		1101	-2.5	0.9	10	dbSNP_134	37	1,8599	817.5+/-406.9	0,1,4299	no	coding-synonymous	ACADSB	NM_001609.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		367/433	124810675	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			U12778	CCDS7634.1	10q25-q26	2014-09-17	2010-04-30		ENSG00000196177	ENSG00000196177	1.3.99.-		91	protein-coding gene	gene with protein product		600301	"acyl-Coenzyme A dehydrogenase, short/branched chain"			7698750, 7759115	Standard	NM_001609		Approved	SBCAD, ACAD7	uc001lhb.3	P45954	OTTHUMG00000019200	ENST00000358776.4:c.1101G>A	10.37:g.124810675G>A			B4DQ51|Q5SQN6|Q96CX7	Silent	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A367	ENST00000358776.4	37	c.1101	CCDS7634.1	10																																																																																			ACADSB	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000196177		0.353	ACADSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADSB	HGNC	protein_coding	OTTHUMT00000050843.1	-	0	56	0	G	NM_001609		124810675	1	tier1	rs145295182	no_errors	ENST00000358776	ensembl	human	known	74_37	silent	30.77	27	12	SNP	0.501	A	A	124810675	G	A	124810675	2	1	73	1	0	0	0	0	0	0	0	1	115	1132	40	1		1	ACADSB	10	124810675	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	6374700	124810675	10724072	117	19556											
HMX3	340784	genome.wustl.edu	37	chr10	124895957	124895957	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccggcggccacctcccgCgacctgaaggtaccgacctc	6	4	11	20	6	0	1	0	1	0	0	2	3	1	1	8	3	1	1	8	3	2	1	rs529563907		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:124895957C>T	ENST00000357878.5	+	1	480	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	131					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCACCTCCCGCGACCTGAAGG	0.711																																																	0													9	12	11					10																	124895957		1887	4078	5965	SO:0001587	stop_gained	0				CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.391C>T	10.37:g.124895957C>T	ENSP00000350549:p.Arg131*		A8MU06	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R131*	ENST00000357878.5	37	c.391	CCDS41575.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.841583	0.97016	.	.	ENSG00000188620	ENST00000357878	.	.	.	4.18	1.94	0.25998	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7721	0.57427	0.4256:0.5743:0.0:0.0	.	.	.	.	X	131	.	ENSP00000350549:R131X	R	+	1	2	HMX3	124885947	0.128000	0.22383	0.999000	0.59377	0.966000	0.64601	0.452000	0.21795	0.714000	0.32081	0.460000	0.39030	CGA	HMX3	-	NULL	ENSG00000188620		0.711	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMX3	HGNC	protein_coding	OTTHUMT00000050842.4	-	0	30	0	C	XM_291716		124895957	1	tier1	-	no_errors	ENST00000357878	ensembl	human	known	74_37	nonsense	38.10	13	8	SNP	0.997	T	T	124895957	C	T	124895957	4	4	73	1	0	0	0	0	0	1	0	0	7275	760	27	1	393	1	HMX3	10	124895957	Nonsense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	85282	124895957	10638790	118	19557											
ADAM12	8038	genome.wustl.edu	37	chr10	127734653	127734653	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactgcattgcacactCgtgaaccccaaagacactaa	13	7	8	13	1	0	2	0	1	0	1	1	2	0	2	2	1	3	3	2	1	3	2	rs199768245		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr10:127734653C>A	ENST00000368679.4	-	17	2284	c.1975G>T	c.(1975-1977)Gag>Tag	p.E659*	ADAM12_ENST00000368676.4_Nonsense_Mutation_p.E659*	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	659	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ATTGCACACTCGTGAACCCCA	0.443																																																	0													125	112	116					10																	127734653		2203	4300	6503	SO:0001587	stop_gained	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1975G>T	10.37:g.127734653C>A	ENSP00000357668:p.Glu659*		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E659*	ENST00000368679.4	37	c.1975	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.691368	0.97768	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	.	.	.	5.35	3.48	0.39840	.	0.200311	0.41712	D	0.000835	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	9.1801	0.37136	0.0:0.7442:0.0:0.2558	.	.	.	.	X	659	.	ENSP00000357665:E659X	E	-	1	0	ADAM12	127724643	0.981000	0.34729	0.003000	0.11579	0.004000	0.04260	2.584000	0.46102	0.801000	0.34066	0.655000	0.94253	GAG	ADAM12	-	pfscan_EG-like_dom	ENSG00000148848		0.443	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	-	0	45	0	C			127734653	-1	tier1	-	no_errors	ENST00000368679	ensembl	human	known	74_37	nonsense	43.64	30	24	SNP	0.186	A	A	127734653	C	A	127734653	4	1	73	1	0	0	0	0	0	1	0	0	236	893	31	2	890	2	ADAM12	10	127734653	Nonsense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	2838696	127734653	7800094	119	19558											
LSP1	4046	genome.wustl.edu	37	chr11	1907990	1907990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacccccaagctagcccGccaggcctccatagagctgc	8	4	10	19	2	0	1	0	0	0	1	1	2	1	2	7	2	4	2	7	2	3	2	rs147990493		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:1907990G>A	ENST00000311604.3	+	8	921	c.746G>A	c.(745-747)cGc>cAc	p.R249H	LSP1_ENST00000405957.2_Missense_Mutation_p.R187H|LSP1_ENST00000406638.2_Missense_Mutation_p.R187H|LSP1_ENST00000381775.1_Missense_Mutation_p.R377H|LSP1_ENST00000485341.1_3'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	249					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.R187H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AAGCTAGCCCGCCAGGCCTCC	0.622													G|||	1	0.000199681	8e-04	0	5008	,	,		18161	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4404		0,0,2202	56	63	61		560,560,560,746	3.3	1	11	dbSNP_134	61	1,8597		0,1,4298	no	missense,missense,missense,missense	LSP1	NM_001013253.1,NM_001013254.1,NM_001013255.1,NM_002339.2	29,29,29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	187/278,187/278,187/278,249/340	1907990	1,13001	2202	4299	6501	SO:0001583	missense	0			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.746G>A	11.37:g.1907990G>A	ENSP00000308383:p.Arg249His		B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.R249H	ENST00000311604.3	37	c.746	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	.	17.51	3.407900	0.62399	0.0	1.16E-4	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000457279;ENST00000406638;ENST00000417766;ENST00000432093	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	3.3	3.3	0.37823	.	0.184499	0.25598	N	0.029567	T	0.62732	0.2452	L	0.59436	1.845	0.41576	D	0.988715	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.66846	-0.5820	10	0.62326	D	0.03	-19.5768	12.8897	0.58064	0.0:0.0:1.0:0.0	.	377;249	E9PFP3;P33241	.;LSP1_HUMAN	H	249;377;187;240;187;187;187	ENSP00000308383:R249H;ENSP00000371194:R377H;ENSP00000383932:R187H;ENSP00000400346:R240H;ENSP00000384022:R187H;ENSP00000416363:R187H;ENSP00000412405:R187H	ENSP00000308383:R249H	R	+	2	0	LSP1	1864566	0.964000	0.33143	0.998000	0.56505	0.626000	0.37791	5.515000	0.67049	1.850000	0.53721	0.455000	0.32223	CGC	LSP1	-	pfam_Caldesmon_LSP,prints_Lymphspecific	ENSG00000130592		0.622	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	-	0	99	0	G	NM_002339		1907990	1	tier1	rs147990493	no_errors	ENST00000311604	ensembl	human	known	74_37	missense	80.36	11	45	SNP	0.999	A	A	1907990	G	A	1907990	3	1	73	1	0	0	0	0	1	0	0	0	9098	1087	38	1	776	1	LSP1	11	1907990	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		1907990	133098526	120	19559											
OR52E8	390079	genome.wustl.edu	37	chr11	5878912	5878912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgggtgtgattagaCgtagacattcttcctgccat	9	13	11	8	1	1	3	0	1	1	2	2	4	2	4	2	2	2	1	2	2	3	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:5878912C>T	ENST00000537935.1	-	1	52	c.21G>A	c.(19-21)acG>acA	p.T7T	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATTAGACGTAGACATTC	0.418																																																	0													90	108	102					11																	5878912		2137	4296	6433	SO:0001819	synonymous_variant	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.21G>A	11.37:g.5878912C>T			B9EH38	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T7	ENST00000537935.1	37	c.21	CCDS31400.1	11																																																																																			OR52E8	-	NULL	ENSG00000183269		0.418	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	HGNC	protein_coding	OTTHUMT00000401145.1	-	0	62	0	C	NM_001005168		5878912	-1	tier1	-	no_errors	ENST00000537935	ensembl	human	known	74_37	silent	81.25	6	26	SNP	0.000	T	T	5878912	C	T	5878912	2	4	73	1	0	0	0	0	0	0	0	1	11157	523	19	1		1	OR52E8	11	5878912	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	3970922	5878912	129127604	121	19560											
SYT9	143425	genome.wustl.edu	37	chr11	7334873	7334873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagctgtcaatttgcccGccaaggacttttctgggact	10	11	9	11	1	2	0	1	0	1	0	2	2	2	2	2	2	2	1	2	2	3	3	rs374567594		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:7334873G>A	ENST00000318881.6	+	3	982	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	SYT9_ENST00000396716.2_Missense_Mutation_p.A217T	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.A249T(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CAATTTGCCCGCCAAGGACTT	0.408																																																	1	Substitution - Missense(1)	pancreas(1)						G	THR/ALA	0,4402		0,0,2201	112	113	112		745	5.9	1	11		112	1,8591	1.2+/-3.3	0,1,4295	no	missense	SYT9	NM_175733.3	58	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	249/492	7334873	1,12993	2201	4296	6497	SO:0001583	missense	0			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"Synaptotagmins"	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.745G>A	11.37:g.7334873G>A	ENSP00000324419:p.Ala249Thr			Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.A249T	ENST00000318881.6	37	c.745	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000779	0.93227	0.0	1.16E-4	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.70282	-0.47;-0.47	5.87	5.87	0.94306	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.000000	0.64402	D	0.000001	T	0.82176	0.4980	M	0.75085	2.285	0.80722	D	1	D	0.60575	0.988	P	0.58331	0.837	D	0.83373	0.0008	10	0.87932	D	0	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	249	Q86SS6	SYT9_HUMAN	T	217;249	ENSP00000379944:A217T;ENSP00000324419:A249T	ENSP00000324419:A249T	A	+	1	0	SYT9	7291449	1.000000	0.71417	0.974000	0.42286	0.984000	0.73092	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	GCC	SYT9	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000170743		0.408	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1		0	53	0	G	NM_175733		7334873	1			no_errors	ENST00000318881	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	A	A	7334873	G	A	7334873	3	1	73	1	0	0	0	0	1	0	0	0	15528	1087	38	1	755	1	SYT9	11	7334873	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1455961	7334873	127671643	122	19561											
STK33	65975	genome.wustl.edu	37	chr11	8494768	8494768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttccttctgtaaagttgCcccgaccccattgttgctga	6	15	7	13	1	1	1	0	1	1	0	2	2	2	1	5	0	2	4	5	0	2	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:8494768C>T	ENST00000447869.1	-	2	1199	c.281G>A	c.(280-282)gGc>gAc	p.G94D	STK33_ENST00000534493.1_Missense_Mutation_p.G53D|STK33_ENST00000358872.3_Intron|STK33_ENST00000396673.1_Missense_Mutation_p.G94D|STK33_ENST00000315204.1_Missense_Mutation_p.G94D|STK33_ENST00000396672.1_Missense_Mutation_p.G94D			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	94					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G94D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGTAAAGTTGCCCCGACCCCA	0.368																																																	2	Substitution - Missense(2)	endometrium(2)											158	155	156					11																	8494768		2201	4296	6497	SO:0001583	missense	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.281G>A	11.37:g.8494768C>T	ENSP00000416750:p.Gly94Asp		Q658S6|Q8NEF5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G94D	ENST00000447869.1	37	c.281	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443953	0.25987	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	T;T;T;T;T;T;T;T;T	0.75704	-0.52;-0.52;-0.52;-0.51;-0.48;-0.96;-0.3;0.36;1.4	5.41	1.08	0.20341	.	0.753768	0.13197	N	0.406279	T	0.60025	0.2237	L	0.43152	1.355	0.09310	N	1	B	0.26195	0.144	B	0.20955	0.032	T	0.50516	-0.8819	10	0.44086	T	0.13	.	3.7969	0.08743	0.2571:0.4127:0.2516:0.0786	.	94	Q9BYT3	STK33_HUMAN	D	94;94;94;94;53;44;53;53;94	ENSP00000416750:G94D;ENSP00000320754:G94D;ENSP00000379905:G94D;ENSP00000379906:G94D;ENSP00000436418:G53D;ENSP00000436905:G44D;ENSP00000391362:G53D;ENSP00000411510:G53D;ENSP00000403599:G94D	ENSP00000320754:G94D	G	-	2	0	STK33	8451344	0.074000	0.21230	0.070000	0.20053	0.955000	0.61496	0.163000	0.16520	0.625000	0.30304	-0.291000	0.09656	GGC	STK33	-	NULL	ENSG00000130413		0.368	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2		0	77	0	C	NM_030906		8494768	-1			no_errors	ENST00000315204	ensembl	human	known	74_37	missense	6.12	45	3	SNP	0.007	T	T	8494768	C	T	8494768	3	4	73	1	0	0	0	0	1	0	0	0	15347	739	26	3	1307	3	STK33	11	8494768	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1159895	8494768	126511748	123	19562											
MICAL2	9645	genome.wustl.edu	37	chr11	12183842	12183842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaccctctggaccacaGaaacttttattccaagctca	12	10	5	14	0	2	2	1	0	1	2	3	3	3	3	4	1	2	1	4	1	4	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:12183842G>T	ENST00000256194.4	+	3	428	c.140G>T	c.(139-141)aGa>aTa	p.R47I	MICAL2_ENST00000527546.1_Missense_Mutation_p.R47I|MICAL2_ENST00000342902.5_Missense_Mutation_p.R47I|MICAL2_ENST00000537344.1_Missense_Mutation_p.R47I|MICAL2_ENST00000379612.3_Missense_Mutation_p.R47I	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	47	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTGGACCACAGAAACTTTTAT	0.493																																																	0													66	65	66					11																	12183842		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.140G>T	11.37:g.12183842G>T	ENSP00000256194:p.Arg47Ile		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.R47I	ENST00000256194.4	37	c.140	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852208	0.32699	.	.	ENSG00000133816	ENST00000537344;ENST00000532179;ENST00000526065;ENST00000256194;ENST00000532420;ENST00000527546;ENST00000342902;ENST00000524685;ENST00000525119;ENST00000533389;ENST00000379612	T;T;T;T;T;T;T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31;3.31	5.55	4.64	0.57946	.	0.209202	0.41500	D	0.000862	T	0.14830	0.0358	M	0.62723	1.935	0.58432	D	0.999999	P;P;P;P;P;P	0.52692	0.82;0.725;0.715;0.902;0.834;0.955	B;B;B;B;B;P	0.55871	0.444;0.258;0.374;0.445;0.374;0.786	T	0.07809	-1.0753	10	0.21540	T	0.41	.	11.6162	0.51092	0.1462:0.0:0.8538:0.0	.	47;47;47;47;47;47	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	I	47	ENSP00000441689:R47I;ENSP00000434209:R47I;ENSP00000435270:R47I;ENSP00000256194:R47I;ENSP00000433818:R47I;ENSP00000433965:R47I;ENSP00000344894:R47I;ENSP00000437229:R47I;ENSP00000433509:R47I;ENSP00000433357:R47I;ENSP00000368932:R47I	ENSP00000256194:R47I	R	+	2	0	MICAL2	12140418	1.000000	0.71417	0.973000	0.42090	0.276000	0.26787	2.859000	0.48364	1.595000	0.50050	-0.136000	0.14681	AGA	MICAL2	-	NULL	ENSG00000133816		0.493	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	-	0	85	0	G	NM_014632		12183842	1	tier1	-	no_errors	ENST00000256194	ensembl	human	known	74_37	missense	34.33	44	23	SNP	0.998	T	T	12183842	G	T	12183842	3	4	73	1	0	0	0	0	1	0	0	0	9608	942	33	3	142	3	MICAL2	11	12183842	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	3689074	12183842	122822674	124	19563											
CCDC73	493860	genome.wustl.edu	37	chr11	32675584	32675584	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatttaattccaattcCtttaaaatttgaatagtttt	12	21	2	6	0	1	1	1	1	1	0	4	1	3	1	2	0	0	1	2	0	6	11			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:32675584C>A	ENST00000335185.5	-	11	818		c.e11-1		CCDC73_ENST00000534415.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATTCCAATTCCTTTAAAATTT	0.269																																																	0													43	42	42					11																	32675584		1770	4034	5804	SO:0001630	splice_region_variant	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.775-1G>T	11.37:g.32675584C>A			Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	-	e10-1	ENST00000335185.5	37	c.775-1	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730196	0.69074	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9307	0.88996	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC73	32632160	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.434000	0.59935	2.773000	0.95371	0.650000	0.86243	.	CCDC73	-	-	ENSG00000186714		0.269	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2		0	45	0	C	NM_001008391	Intron	32675584	-1			no_errors	ENST00000335185	ensembl	human	known	74_37	splice_site	10.53	17	2	SNP	1.000	A	A	32675584	C	A	32675584	5	1	73	1	0	0	0	0	0	0	1	0	2853	695	24	3	2497	3	CCDC73	11	32675584	Splice_Site	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	20491742	32675584	102330932	125	19564											
OR4P4	81300	genome.wustl.edu	37	chr11	55406281	55406281	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatagtttgttgtactgggGgatttatacattctgccagt	8	17	10	6	0	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	4	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:55406281G>T	ENST00000314612.2	+	1	448	c.448G>T	c.(448-450)Gga>Tga	p.G150*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGTACTGGGGGATTTATACA	0.428																																																	0													76	66	69					11																	55406281		2179	4007	6186	SO:0001587	stop_gained	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.448G>T	11.37:g.55406281G>T	ENSP00000324831:p.Gly150*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G150*	ENST00000314612.2	37	c.448	CCDS31504.1	11	.	.	.	.	.	.	.	.	.	.	G	8.088	0.773944	0.16051	.	.	ENSG00000181927	ENST00000314612	.	.	.	4.84	3.93	0.45458	.	0.389621	0.18820	N	0.130276	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.1884	11.9185	0.52779	0.085:0.0:0.915:0.0	.	.	.	.	X	150	.	ENSP00000324831:G150X	G	+	1	0	OR4P4	55162857	0.000000	0.05858	0.013000	0.15412	0.001000	0.01503	-0.098000	0.11024	1.256000	0.44068	-0.154000	0.13518	GGA	OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181927		0.428	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1	-	0	52	0	G	NM_001004124		55406281	1	tier1	-	no_errors	ENST00000314612	ensembl	human	known	74_37	nonsense	94.12	2	32	SNP	0.565	T	T	55406281	G	T	55406281	4	4	73	1	0	0	0	0	0	1	0	0	11119	1233	43	3	450	3	OR4P4	11	55406281	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	22730697	55406281	79600235	126	19565											
OR5L2	26338	genome.wustl.edu	37	chr11	55595135	55595135	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtggagctgacctcttgCtgctacttctgtgggacggt	4	13	14	10	2	2	1	0	1	2	0	2	3	2	3	1	3	4	3	1	3	1	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:55595135C>A	ENST00000378397.1	+	1	441	c.441C>A	c.(439-441)tgC>tgA	p.C147*		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGACCTCTTGCTGCTACTTCT	0.502										HNSCC(27;0.073)																																							0													217	184	195					11																	55595135		2200	4296	6496	SO:0001587	stop_gained	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.441C>A	11.37:g.55595135C>A	ENSP00000367650:p.Cys147*		Q6IF66|Q96RB2	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C147*	ENST00000378397.1	37	c.441	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	5.684	0.310736	0.10733	.	.	ENSG00000205030	ENST00000378397	.	.	.	5.18	-1.73	0.08081	.	0.381500	0.22172	N	0.063627	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-1.7892	2.6125	0.04895	0.112:0.3481:0.3226:0.2172	.	.	.	.	X	147	.	ENSP00000367650:C147X	C	+	3	2	OR5L2	55351711	0.000000	0.05858	0.371000	0.25978	0.049000	0.14656	-2.636000	0.00867	0.029000	0.15352	0.626000	0.83405	TGC	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205030		0.502	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	62	0	C	NM_001004739		55595135	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	nonsense	36.17	30	17	SNP	0.010	A	A	55595135	C	A	55595135	4	1	73	1	0	0	0	0	0	1	0	0	11210	805	28	3	443	3	OR5L2	11	55595135	Nonsense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	188854	55595135	79411381	127	19566											
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57068026	57068026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacttctcagaccttcttCttcttcagtttcagggcttg	5	17	8	11	0	6	2	3	1	4	1	7	2	6	2	1	1	0	2	1	1	0	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:57068026C>T	ENST00000532437.1	-	10	5489	c.5178G>A	c.(5176-5178)aaG>aaA	p.K1726K	TNKS1BP1_ENST00000358252.3_Silent_p.K1726K			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1726	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGACCTTCTTCTTCTTCAGTT	0.552																																																	0													191	162	172					11																	57068026		2201	4296	6497	SO:0001819	synonymous_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.5178G>A	11.37:g.57068026C>T			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.K1726	ENST00000532437.1	37	c.5178	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.552	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	-	0	51	0	C	NM_033396		57068026	-1	tier1	-	no_errors	ENST00000358252	ensembl	human	known	74_37	silent	88.24	2	15	SNP	1.000	T	T	57068026	C	T	57068026	2	4	73	1	0	0	0	0	0	0	0	1	16367	912	32	3		3	TNKS1BP1	11	57068026	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1472891	57068026	77938490	128	19567											
RAD9A	5883	genome.wustl.edu	37	chr11	67165003	67165003	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccccagccctgtgctGgcggaagacagtgagggtga	8	5	17	11	1	0	3	0	2	0	1	0	4	0	4	3	4	2	1	3	4	1	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:67165003G>T	ENST00000307980.2	+	11	1242	c.1149G>T	c.(1147-1149)ctG>ctT	p.L383L	PPP1CA_ENST00000532446.1_5'Flank|RNU6-1238P_ENST00000517215.1_RNA|RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	383	Sufficient for interaction with ABL1.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|intra-S DNA damage checkpoint (GO:0031573)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|enzyme binding (GO:0019899)|exodeoxyribonuclease III activity (GO:0008853)|histone deacetylase binding (GO:0042826)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCCCTGTGCTGGCGGAAGACA	0.607								Other conserved DNA damage response genes																																									0													57	47	50					11																	67165003		2200	4295	6495	SO:0001819	synonymous_variant	0			U53174	CCDS8159.1	11q13.1-q13.2	2008-02-05	2003-07-21	2003-07-23	ENSG00000172613	ENSG00000172613			9827	protein-coding gene	gene with protein product		603761	"RAD9 (S. pombe) homolog"	RAD9		8943031	Standard	NM_004584		Approved		uc001okr.3	Q99638	OTTHUMG00000167670	ENST00000307980.2:c.1149G>T	11.37:g.67165003G>T			B2RCZ8|Q6FI29|Q96C41	Silent	SNP	pfam_Rad9/Ddc1,pirsf_Rad9	p.L383	ENST00000307980.2	37	c.1149	CCDS8159.1	11																																																																																			RAD9A	-	pirsf_Rad9	ENSG00000172613		0.607	RAD9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD9A	HGNC	protein_coding	OTTHUMT00000395481.2		0	48	0	G	NM_004584		67165003	1			no_errors	ENST00000307980	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	T	T	67165003	G	T	67165003	2	4	73	1	0	0	0	0	0	0	0	1	13040	1335	47	3		3	RAD9A	11	67165003	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	10096977	67165003	67841513	129	19568											
INPPL1	3636	genome.wustl.edu	37	chr11	71942174	71942174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agaactcagtgggcgaccgcGagtggctggacctactgcgc	8	6	15	12	4	1	1	1	0	0	1	1	4	1	2	2	3	3	1	2	3	2	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:71942174G>C	ENST00000298229.2	+	12	1642	c.1438G>C	c.(1438-1440)Gag>Cag	p.E480Q	INPPL1_ENST00000538751.1_Missense_Mutation_p.E238Q|INPPL1_ENST00000541756.1_Missense_Mutation_p.E238Q	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	480					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGCGACCGCGAGTGGCTGGA	0.607																																																	0													146	154	151					11																	71942174		2200	4293	6493	SO:0001583	missense	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"Sterile alpha motif (SAM) domain containing", "SH2 domain containing"	6080	protein-coding gene	gene with protein product	"51C protein"	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1438G>C	11.37:g.71942174G>C	ENSP00000298229:p.Glu480Gln		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.E480Q	ENST00000298229.2	37	c.1438	CCDS8213.1	11	.	.	.	.	.	.	.	.	.	.	g	28.6	4.937103	0.92458	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	T;T;T	0.79454	-1.27;-1.27;-1.27	5.81	5.81	0.92471	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.87200	0.6118	M	0.68593	2.085	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	D	0.85275	0.1058	10	0.38643	T	0.18	.	18.6606	0.91470	0.0:0.0:1.0:0.0	.	480	O15357	SHIP2_HUMAN	Q	480;238;238	ENSP00000298229:E480Q;ENSP00000446360:E238Q;ENSP00000444619:E238Q	ENSP00000298229:E480Q	E	+	1	0	INPPL1	71619822	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	9.448000	0.97600	2.746000	0.94184	0.655000	0.94253	GAG	INPPL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000165458		0.607	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	-	0	18	0	G	NM_001567		71942174	1	tier1	-	no_errors	ENST00000298229	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	C	C	71942174	G	C	71942174	3	2	73	1	0	0	0	0	1	0	0	0	7788	1059	37	5	1484	5	INPPL1	11	71942174	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	4777171	71942174	63064342	130	19569											
C2CD3	26005	genome.wustl.edu	37	chr11	73789404	73789404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttacagattccttaggCttcttgagaggggtccaaaa	10	14	10	7	0	1	2	0	1	1	2	3	3	3	2	2	3	1	2	2	3	4	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr11:73789404C>T	ENST00000334126.7	-	23	4585	c.4359G>A	c.(4357-4359)aaG>aaA	p.K1453K	C2CD3_ENST00000313663.7_Silent_p.K1453K			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1453					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATTCCTTAGGCTTCTTGAGAG	0.453																																																	0													90	85	86					11																	73789404		2200	4293	6493	SO:0001819	synonymous_variant	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.4359G>A	11.37:g.73789404C>T			C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.K1453	ENST00000334126.7	37	c.4359		11																																																																																			C2CD3	-	NULL	ENSG00000168014		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		-	0	110	0	C	NM_015531		73789404	-1	tier1	-	no_errors	ENST00000334126	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.948	T	T	73789404	C	T	73789404	2	4	73	1	0	0	0	0	0	0	0	1	2161	796	28	3		3	C2CD3	11	73789404	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1847230	73789404	61217112	131	19570											
FGF23	8074	genome.wustl.edu	37	chr12	4479524	4479524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccctagatgaacttggcGaaggggcggcagccttccgg	8	6	15	12	4	0	2	0	1	0	1	1	4	1	2	3	5	2	1	3	5	3	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:4479524G>A	ENST00000237837.1	-	3	886	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	247					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.F247F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAACTTGGCGAAGGGGCGGC	0.627																																																	1	Substitution - coding silent(1)	prostate(1)											60	67	64					12																	4479524		2203	4300	6503	SO:0001819	synonymous_variant	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.741C>T	12.37:g.4479524G>A			Q4V758	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.F247	ENST00000237837.1	37	c.741	CCDS8526.1	12																																																																																			FGF23	-	NULL	ENSG00000118972		0.627	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	-	0	64	0	G			4479524	-1	tier1	-	no_errors	ENST00000237837	ensembl	human	known	74_37	silent	47.83	24	22	SNP	0.008	A	A	4479524	G	A	4479524	2	1	73	1	0	0	0	0	0	0	0	1	5874	1049	37	1		1	FGF23	12	4479524	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		4479524	129372371	132	19571											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20885992	20885992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctttccctgtttgcactgGgctgtgaaaattctgatgtg	6	17	10	8	0	2	2	0	2	2	0	3	2	3	2	1	1	1	3	1	1	2	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:20885992G>T	ENST00000266509.2	+	10	1704	c.1336G>T	c.(1336-1338)Ggc>Tgc	p.G446C	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G328C|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G446C|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G397C|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G446C	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	446					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GTTTGCACTGGGCTGTGAAAA	0.383																																																	0													189	170	177					12																	20885992		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1336G>T	12.37:g.20885992G>T	ENSP00000266509:p.Gly446Cys		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G446C	ENST00000266509.2	37	c.1336	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177053	0.57692	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.93	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051465	0.85682	D	0.000000	T	0.81645	0.4866	M	0.91354	3.2	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;0.998;0.998	D;D;D;D	0.76071	0.987;0.976;0.976;0.976	D	0.85670	0.1294	10	0.72032	D	0.01	.	18.7166	0.91678	0.0:0.0:1.0:0.0	.	328;397;446;446	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	C	446;397;446;446;328	ENSP00000444149:G446C;ENSP00000438665:G397C;ENSP00000266509:G446C;ENSP00000370964:G446C;ENSP00000444527:G328C	ENSP00000266509:G446C	G	+	1	0	SLCO1C1	20777259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.816000	0.48026	2.641000	0.89580	0.591000	0.81541	GGC	SLCO1C1	-	pfam_OA_transporter,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.383	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	77	0	G	NM_017435		20885992	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	7.46	61	5	SNP	1.000	T	T	20885992	G	T	20885992	3	4	73	1	0	0	0	0	1	0	0	0	14770	1232	43	3	1370	3	SLCO1C1	12	20885992	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	16406468	20885992	112965903	133	19572											
MLL2	8085	genome.wustl.edu	37	chr12	49418397	49418397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggattttaggctctgatcggGcacagccagtggggttgatc	7	11	15	8	1	1	2	0	2	1	0	3	3	1	3	1	5	1	3	1	5	1	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:49418397G>A	ENST00000301067.7	-	50	16015	c.16016C>T	c.(16015-16017)gCc>gTc	p.A5339V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5339					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A5069V(1)|p.A5339V(1)									CTCTGATCGGGCACAGCCAGT	0.567																																																	2	Substitution - Missense(2)	lung(2)											49	49	49					12																	49418397		1982	4170	6152	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16016C>T	12.37:g.49418397G>A	ENSP00000301067:p.Ala5339Val		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A5339V	ENST00000301067.7	37	c.16016	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.401096	0.96030	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.97016	-1.8;-4.21	5.36	5.36	0.76844	.	0.000000	0.35067	N	0.003476	D	0.98040	0.9354	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98766	1.0726	10	0.87932	D	0	.	18.2502	0.90000	0.0:0.0:1.0:0.0	.	5339	O14686	MLL2_HUMAN	V	5339;4	ENSP00000301067:A5339V;ENSP00000435714:A4V	ENSP00000301067:A5339V	A	-	2	0	MLL2	47704664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.685000	0.91497	0.655000	0.94253	GCC	KMT2D	-	NULL	ENSG00000167548		0.567	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	60	0	G			49418397	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A	A	49418397	G	A	49418397	3	1	73	1	0	0	0	0	1	0	0	0	9659	1203	42	3	617	3	MLL2	12	49418397	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	28532405	49418397	84433498	134	19573											
SLC4A8	9498	genome.wustl.edu	37	chr12	51855063	51855063	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagatccatggccaccatCatgacagatgaggtatgtgc	11	8	12	10	0	1	4	1	2	0	2	2	4	2	4	3	3	1	2	3	3	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:51855063C>G	ENST00000453097.2	+	9	1306	c.1089C>G	c.(1087-1089)atC>atG	p.I363M	SLC4A8_ENST00000535225.2_Missense_Mutation_p.I310M|SLC4A8_ENST00000514353.3_Missense_Mutation_p.I310M|SLC4A8_ENST00000358657.3_Missense_Mutation_p.I390M|SLC4A8_ENST00000394856.1_Missense_Mutation_p.I310M	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGCCACCATCATGACAGATG	0.408																																																	0													152	133	140					12																	51855063		2203	4300	6503	SO:0001583	missense	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.1089C>G	12.37:g.51855063C>G	ENSP00000405812:p.Ile363Met			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.I363M	ENST00000453097.2	37	c.1089	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501159	0.64298	.	.	ENSG00000050438	ENST00000535225;ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000547697;ENST00000551071	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.85	5.85	0.93711	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.043281	0.85682	D	0.000000	T	0.69602	0.3129	L	0.39898	1.24	0.45295	D	0.998296	P;P;P;P;B;P;P	0.51791	0.934;0.887;0.948;0.454;0.399;0.599;0.948	P;P;P;P;P;P;P	0.54210	0.541;0.562;0.745;0.703;0.578;0.745;0.66	T	0.71381	-0.4610	10	0.87932	D	0	.	14.1914	0.65641	0.1497:0.8503:0.0:0.0	.	310;390;310;363;363;363;310	E7EML0;Q2Y0W8-2;F5GZ31;Q2Y0W8;Q2Y0W8-3;Q2Y0W8-6;F8VSA8	.;.;.;S4A8_HUMAN;.;.;.	M	310;390;363;310;363;310;310;310	ENSP00000441520:I310M;ENSP00000351483:I390M;ENSP00000405812:I363M;ENSP00000378325:I310M;ENSP00000442561:I310M	ENSP00000315789:I363M	I	+	3	3	SLC4A8	50141330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.090000	0.30902	2.941000	0.99782	0.655000	0.94253	ATC	SLC4A8	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.408	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	-	0	50	0	C	NM_004858		51855063	1	tier1	-	no_errors	ENST00000453097	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G	G	51855063	C	G	51855063	3	3	73	1	0	0	0	0	1	0	0	0	14704	816	29	5	1123	5	SLC4A8	12	51855063	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	2436666	51855063	81996832	135	19574											
SCN8A	6334	genome.wustl.edu	37	chr12	52099240	52099240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatacatgatcttcttcGtcttggtcatctttgtgggt	8	17	8	8	1	5	1	1	1	4	0	6	1	5	1	0	2	2	0	0	2	2	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:52099240G>A	ENST00000354534.6	+	10	1352	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	SCN8A_ENST00000545061.1_Missense_Mutation_p.V392I|SCN8A_ENST00000550891.1_Missense_Mutation_p.V392I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	392					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GATCTTCTTCGTCTTGGTCAT	0.468																																																	0													178	181	180					12																	52099240		2055	4236	6291	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1174G>A	12.37:g.52099240G>A	ENSP00000346534:p.Val392Ile		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V392I	ENST00000354534.6	37	c.1174	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821453	0.90873	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961;ENST00000551216	D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0	4.96	4.96	0.65561	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98277	0.9429	L	0.46670	1.46	0.80722	D	1	D;D;P;D	0.71674	0.998;0.967;0.947;0.982	D;P;P;P	0.73708	0.981;0.652;0.715;0.567	D	0.97700	1.0184	10	0.30078	T	0.28	.	18.7983	0.92005	0.0:0.0:1.0:0.0	.	392;392;392;392	F8VWM7;Q9UQD0-3;F8VRN5;Q9UQD0	.;.;.;SCN8A_HUMAN	I	392;392;392;392;305;190	ENSP00000448415:V392I;ENSP00000346534:V392I;ENSP00000440360:V392I;ENSP00000347255:V392I;ENSP00000447567:V190I	ENSP00000346534:V392I	V	+	1	0	SCN8A	50385507	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.860000	0.86993	2.752000	0.94435	0.655000	0.94253	GTC	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.468	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	85	0	G	NM_014191		52099240	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	43.66	40	31	SNP	1.000	A	A	52099240	G	A	52099240	3	1	73	1	0	0	0	0	1	0	0	0	13969	1145	40	1	1208	1	SCN8A	12	52099240	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	244177	52099240	81752655	136	19575											
NEUROD4	58158	genome.wustl.edu	37	chr12	55421010	55421010	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgagcatcagtgggaacTtctccttgaagcaagatggg	10	9	12	10	0	2	3	1	2	1	1	3	4	2	4	2	2	3	2	2	2	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:55421010T>G	ENST00000242994.3	+	2	1165	c.787T>G	c.(787-789)Ttc>Gtc	p.F263V		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	263					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAGTGGGAACTTCTCCTTGAA	0.512																																																	0													124	120	121					12																	55421010		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.787T>G	12.37:g.55421010T>G	ENSP00000242994:p.Phe263Val		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.F263V	ENST00000242994.3	37	c.787	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	T	24.6	4.550386	0.86127	.	.	ENSG00000123307	ENST00000242994	T	0.72394	-0.65	5.85	5.85	0.93711	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.81497	2.545	0.80722	D	1	D	0.65815	0.995	D	0.65323	0.934	D	0.85786	0.1364	10	0.87932	D	0	-4.6501	14.4944	0.67674	0.0:0.0:0.0:1.0	.	263	Q9HD90	NDF4_HUMAN	V	263	ENSP00000242994:F263V	ENSP00000242994:F263V	F	+	1	0	NEUROD4	53707277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC	NEUROD4	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.512	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	-	0	68	0	T			55421010	1	tier1	-	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	G	G	55421010	T	G	55421010	3	3	73	1	0	0	0	0	1	0	0	0	10389	1609	56	4	789	4	NEUROD4	12	55421010	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	3321770	55421010	78430885	137	19576											
EID3	493861	genome.wustl.edu	37	chr12	104698038	104698038	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaaagcagttaaactCagatatgaacttctttaatc	17	11	6	7	0	2	2	1	1	1	1	3	2	2	2	0	1	3	3	0	1	7	5	rs370366308		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:104698038C>A	ENST00000527879.1	+	1	522	c.326C>A	c.(325-327)tCa>tAa	p.S109*	TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000378070.4_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CAGTTAAACTCAGATATGAAC	0.443																																																	0													143	143	143					12																	104698038		1949	4146	6095	SO:0001587	stop_gained	0			BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.326C>A	12.37:g.104698038C>A	ENSP00000435619:p.Ser109*			Nonsense_Mutation	SNP	pfam_Nse4_C	p.S109*	ENST00000527879.1	37	c.326	CCDS53822.1	12	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250076	0.80024	.	.	ENSG00000255150	ENST00000527879	.	.	.	4.32	0.0852	0.14440	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2497	0.31710	0.0:0.4008:0.505:0.0941	.	.	.	.	X	109	.	ENSP00000435619:S109X	S	+	2	0	EID3	103222168	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.168000	0.09925	-0.076000	0.12775	0.555000	0.69702	TCA	EID3	-	pfam_Nse4_C	ENSG00000255150		0.443	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID3	HGNC	protein_coding	OTTHUMT00000387034.1	-	0	79	0	C	NM_001008394		104698038	1	tier1	-	no_errors	ENST00000527879	ensembl	human	known	74_37	nonsense	76.09	11	35	SNP	0.000	A	A	104698038	C	A	104698038	4	1	73	1	0	0	0	0	0	1	0	0	5003	838	29	3	328	3	EID3	12	104698038	Nonsense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	49277028	104698038	29153857	138	19577											
DNAH10	196385	genome.wustl.edu	37	chr12	124332541	124332541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctaggtggggcccccgccGgcccagcaggaaccggcaaa	9	3	14	15	3	1	0	0	0	1	0	1	1	1	1	5	6	2	2	5	6	3	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr12:124332541G>A	ENST00000409039.3	+	32	5519	c.5494G>A	c.(5494-5496)Ggc>Agc	p.G1832S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1832	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCCCCGCCGGCCCAGCAGG	0.537																																																	0													83	90	88					12																	124332541		1944	4158	6102	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5494G>A	12.37:g.124332541G>A	ENSP00000386770:p.Gly1832Ser		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.G1832S	ENST00000409039.3	37	c.5494	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630021	0.87660	.	.	ENSG00000197653	ENST00000409039	D	0.93547	-3.24	5.53	5.53	0.82687	ATPase, AAA+ type, core (1);	0.000000	0.85682	U	0.000000	D	0.98140	0.9386	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	10	0.87932	D	0	.	19.0379	0.92986	0.0:0.0:1.0:0.0	.	1832	Q8IVF4	DYH10_HUMAN	S	1832	ENSP00000386770:G1832S	ENSP00000386770:G1832S	G	+	1	0	DNAH10	122898494	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	9.821000	0.99360	2.598000	0.87819	0.555000	0.69702	GGC	DNAH10	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197653		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	50	0	G			124332541	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	A	A	124332541	G	A	124332541	3	1	73	1	0	0	0	0	1	0	0	0	4612	1116	39	1	5620	1	DNAH10	12	124332541	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	19634503	124332541	9519354	139	19578											
USP12	219333	genome.wustl.edu	37	chr13	27645219	27645219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actacttacttctacaatgtCgtcatcaaacaacaaccaaa	17	10	2	12	1	3	0	2	0	1	0	4	0	3	0	1	0	6	0	1	0	8	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:27645219C>T	ENST00000282344.6	-	8	1256	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	334	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TCTACAATGTCGTCATCAAAC	0.289																																					Ovarian(37;808 911 7590 44442 44991)												0													66	66	66					13																	27645219		2203	4298	6501	SO:0001583	missense	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"Ubiquitin-specific peptidases"	20485	protein-coding gene	gene with protein product			"ubiquitin specific protease 12 like 1", "ubiquitin specific protease 12"	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.1000G>A	13.37:g.27645219C>T	ENSP00000282344:p.Asp334Asn		A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.D334N	ENST00000282344.6	37	c.1000	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657602	0.67586	.	.	ENSG00000152484	ENST00000282344	T	0.32515	1.45	4.91	4.06	0.47325	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	M	0.64630	1.985	0.80722	D	1	D	0.54397	0.966	P	0.54026	0.74	T	0.48670	-0.9015	10	0.62326	D	0.03	-20.342	14.801	0.69916	0.1456:0.8544:0.0:0.0	.	334	O75317	UBP12_HUMAN	N	334	ENSP00000282344:D334N	ENSP00000282344:D334N	D	-	1	0	USP12	26543219	1.000000	0.71417	1.000000	0.80357	0.348000	0.29142	7.689000	0.84165	1.186000	0.42985	-0.181000	0.13052	GAC	USP12	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000152484		0.289	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	-	0	76	0	C	NM_182488		27645219	-1	tier1	-	no_errors	ENST00000282344	ensembl	human	known	74_37	missense	41.38	51	36	SNP	1.000	T	T	27645219	C	T	27645219	3	4	73	1	0	0	0	0	1	0	0	0	17092	884	31	1	120	1	USP12	13	27645219	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		27645219	87524659	140	19579											
NHLRC3	387921	genome.wustl.edu	37	chr13	39613842	39613842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggatcacggatgtaGgaagtggtatgtatagtaat	11	12	13	5	2	2	0	1	0	1	0	2	3	2	3	1	4	0	4	1	4	6	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:39613842G>A	ENST00000379600.3	+	3	701	c.379G>A	c.(379-381)Gga>Aga	p.G127R	NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Missense_Mutation_p.G127R|PROSER1_ENST00000350125.3_5'Flank|PROSER1_ENST00000352251.3_5'Flank	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	127						extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CACGGATGTAGGAAGTGGTAT	0.363																																																	0													74	75	75					13																	39613842		2203	4300	6503	SO:0001583	missense	0				CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.379G>A	13.37:g.39613842G>A	ENSP00000368920:p.Gly127Arg		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	pfam_NHL_repeat,pfscan_NHL_repeat_subgr	p.G127R	ENST00000379600.3	37	c.379	CCDS31961.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.185283	0.94885	.	.	ENSG00000188811	ENST00000379600;ENST00000379599;ENST00000537150	T;D	0.90069	0.96;-2.61	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94460	0.8217	M	0.79011	2.435	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.94043	0.7311	9	.	.	.	-16.437	18.4962	0.90865	0.0:0.0:1.0:0.0	.	127;127;127;127	B4DTL0;Q5JS37;B4DRC8;F5GZB5	.;NHLC3_HUMAN;.;.	R	127	ENSP00000368920:G127R;ENSP00000368919:G127R	.	G	+	1	0	NHLRC3	38511842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.686000	0.98664	2.672000	0.90937	0.557000	0.71058	GGA	NHLRC3	-	NULL	ENSG00000188811		0.363	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC3	HGNC	protein_coding	OTTHUMT00000044616.2	-	0	99	0	G	NM_001012754		39613842	1	tier1	-	no_errors	ENST00000379600	ensembl	human	known	74_37	missense	14.57	128	22	SNP	1.000	A	A	39613842	G	A	39613842	3	1	73	1	0	0	0	0	1	0	0	0	10446	1001	35	3	389	3	NHLRC3	13	39613842	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	11968623	39613842	75556036	141	19580											
ENOX1	55068	genome.wustl.edu	37	chr13	43900600	43900600	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttcttgcgctgggctttCgagaaatggtcccaagcttt	7	14	11	9	2	1	1	0	0	1	1	3	2	2	1	1	2	2	4	1	2	2	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:43900600C>T	ENST00000261488.6	-	10	1675	c.1098G>A	c.(1096-1098)tcG>tcA	p.S366S	ENOX1_ENST00000540032.1_Silent_p.S179S|ENOX1_ENST00000412891.1_Silent_p.S366S	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	366					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTGGGCTTTCGAGAAATGGT	0.418																																																	0													140	127	131					13																	43900600		2203	4300	6503	SO:0001819	synonymous_variant	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1098G>A	13.37:g.43900600C>T			A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S366	ENST00000261488.6	37	c.1098	CCDS9389.1	13																																																																																			ENOX1	-	NULL	ENSG00000120658		0.418	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0	118	0	C	NM_017993		43900600	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	silent	15.70	102	19	SNP	1.000	T	T	43900600	C	T	43900600	2	4	73	1	0	0	0	0	0	0	0	1	5142	871	31	1		1	ENOX1	13	43900600	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	4286758	43900600	71269278	142	19581											
ZC3H13	23091	genome.wustl.edu	37	chr13	46559748	46559748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctggagtctcttagttcCcttcggtccctagtatctct	4	17	7	13	1	3	0	0	0	3	0	9	1	5	1	2	2	0	2	2	2	3	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:46559748C>T	ENST00000242848.4	-	10	1752	c.1404G>A	c.(1402-1404)agG>agA	p.R468R	ZC3H13_ENST00000282007.3_Silent_p.R468R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	468	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTAGTTCCCTTCGGTCCC	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													210	201	204					13																	46559748		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1404G>A	13.37:g.46559748C>T			A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R468	ENST00000242848.4	37	c.1404		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0	38	0	C	NM_015070		46559748	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	silent	33.33	33	17	SNP	1.000	T	T	46559748	C	T	46559748	2	4	73	1	0	0	0	0	0	0	0	1	17613	622	22	3		3	ZC3H13	13	46559748	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	2659148	46559748	68610130	143	19582											
LIG4	3981	genome.wustl.edu	37	chr13	108861355	108861355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaatcatattcacgggcAaaatgttctttggttgatgg	11	14	10	6	1	3	1	2	1	1	0	3	1	3	1	0	3	1	4	0	3	5	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr13:108861355A>T	ENST00000356922.4	-	2	2534	c.2262T>A	c.(2260-2262)ttT>ttA	p.F754L	LIG4_ENST00000405925.1_Missense_Mutation_p.F754L|LIG4_ENST00000442234.1_Missense_Mutation_p.F754L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	754					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATTCACGGGCAAAATGTTCTT	0.378								Non-homologous end-joining																																									0													66	66	66					13																	108861355		2203	4299	6502	SO:0001583	missense	0			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2262T>A	13.37:g.108861355A>T	ENSP00000349393:p.Phe754Leu		Q8IY66|Q8TEU5	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.F754L	ENST00000356922.4	37	c.2262	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723615	0.48728	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.60040	0.22;0.22;0.22	5.72	1.7	0.24286	.	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.58101	1.795	0.53005	D	0.999968	B	0.21520	0.057	B	0.30716	0.119	T	0.23154	-1.0196	10	0.08599	T	0.76	.	8.4946	0.33121	0.7419:0.0:0.2581:0.0	.	754	P49917	DNLI4_HUMAN	L	754	ENSP00000385955:F754L;ENSP00000402030:F754L;ENSP00000349393:F754L	ENSP00000349393:F754L	F	-	3	2	LIG4	107659356	1.000000	0.71417	0.984000	0.44739	0.945000	0.59286	1.187000	0.32090	0.052000	0.16007	-0.444000	0.05651	TTT	LIG4	-	pfam_DNA_ligase_IV	ENSG00000174405		0.378	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	-	0	57	0	A	NM_002312		108861355	-1	tier1	-	no_errors	ENST00000356922	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	T	T	108861355	A	T	108861355	3	4	73	1	0	0	0	0	1	0	0	0	8812	127	5	5	477	5	LIG4	13	108861355	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	62301607	108861355	6308523	144	19583											
PSME2	5721	genome.wustl.edu	37	chr14	24612868	24612868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctcgctcatgcaccaaggCccggtaatccatctgcaatg	10	9	8	14	2	3	0	1	0	2	0	5	0	4	0	3	2	2	4	3	2	3	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr14:24612868C>T	ENST00000216802.5	-	10	1204	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	PSME2_ENST00000560410.1_Missense_Mutation_p.A178T|PSME2_ENST00000471700.2_5'UTR|EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000419198.2_5'Flank|EMC9_ENST00000560403.1_5'Flank|EMC9_ENST00000216799.4_5'Flank	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TGCACCAAGGCCCGGTAATCC	0.537																																																	0													72	73	73					14																	24612868		2203	4300	6503	SO:0001583	missense	0				CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"Proteasome (prosome, macropain) subunits"	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.565G>A	14.37:g.24612868C>T	ENSP00000216802:p.Ala189Thr		Q15129	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.A189T	ENST00000216802.5	37	c.565	CCDS9614.1	14	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232974	0.39498	.	.	ENSG00000100911	ENST00000216802	T	0.43688	0.94	4.84	4.84	0.62591	Proteasome activator pa28, REG beta subunit (2);	0.177958	0.50627	D	0.000109	T	0.37210	0.0995	L	0.40543	1.245	0.43457	D	0.995654	P	0.36222	0.544	B	0.40038	0.317	T	0.07481	-1.0770	10	0.23891	T	0.37	-8.1439	13.6179	0.62120	0.0:1.0:0.0:0.0	.	189	Q9UL46	PSME2_HUMAN	T	189	ENSP00000216802:A189T	ENSP00000216802:A189T	A	-	1	0	PSME2	23682708	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.337000	0.43947	2.680000	0.91292	0.561000	0.74099	GCC	PSME2	-	pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28	ENSG00000100911		0.537	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME2	HGNC	protein_coding	OTTHUMT00000071918.3	-	0	61	0	C	NM_002818		24612868	-1	tier1	-	no_errors	ENST00000216802	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	T	T	24612868	C	T	24612868	3	4	73	1	0	0	0	0	1	0	0	0	12749	739	26	3	162	3	PSME2	14	24612868	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		24612868	82736672	145	19584											
SAV1	60485	genome.wustl.edu	37	chr14	51107485	51107485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttcacaggggctcgtgcGtaaacctgaagccagtcagg	10	8	12	11	2	2	1	2	1	0	0	3	1	2	1	2	3	4	2	2	3	4	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr14:51107485G>A	ENST00000324679.4	-	4	1296	c.933C>T	c.(931-933)taC>taT	p.Y311Y	RN7SL452P_ENST00000482923.2_RNA	NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador family WW domain containing protein 1	311					hair follicle development (GO:0001942)|hippo signaling (GO:0035329)|intestinal epithelial cell differentiation (GO:0060575)|keratinocyte differentiation (GO:0030216)|lung epithelial cell differentiation (GO:0060487)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of apoptotic process (GO:0043065)|regulation of stem cell maintenance (GO:2000036)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GGGCTCGTGCGTAAACCTGAA	0.463																																																	0													147	138	141					14																	51107485		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023071	CCDS9701.1	14q13-q23	2014-04-14	2014-04-14		ENSG00000151748	ENSG00000151748			17795	protein-coding gene	gene with protein product	"WW domain-containing adaptor 45"	607203	"salvador homolog 1 (Drosophila)"			12202036, 11027580	Standard	NM_021818		Approved	WW45, WWP4, salvador	uc001wyh.2	Q9H4B6	OTTHUMG00000140293	ENST00000324679.4:c.933C>T	14.37:g.51107485G>A			A8K4B8|D3DSB6|Q6IA58|Q9H949|Q9HAK9	Silent	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_SARAH_dom,pfscan_WW_dom	p.Y311	ENST00000324679.4	37	c.933	CCDS9701.1	14																																																																																			SAV1	-	NULL	ENSG00000151748		0.463	SAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAV1	HGNC	protein_coding	OTTHUMT00000276879.1	-	0	111	0	G			51107485	-1	tier1	-	no_errors	ENST00000324679	ensembl	human	known	74_37	silent	24.24	50	16	SNP	1.000	A	A	51107485	G	A	51107485	2	1	73	1	0	0	0	0	0	0	0	1	13901	1140	40	1		1	SAV1	14	51107485	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	26494617	51107485	56242055	146	19585											
PRIMA1	145270	genome.wustl.edu	37	chr14	94187802	94187802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagactcacaccactgcGttgttcacgtctactccttt	7	13	6	15	2	3	1	2	0	1	1	4	1	4	1	2	0	3	3	2	0	1	4			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr14:94187802G>A	ENST00000393140.1	-	5	552	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_ENST00000393143.1_Silent_p.N150N|PRIMA1_ENST00000316227.3_3'UTR	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	150					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACACCACTGCGTTGTTCACGT	0.557																																																	0													131	92	105					14																	94187802		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"membrane anchor of acetylcholinesterase"	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.450C>T	14.37:g.94187802G>A			Q86XR6	Silent	SNP	NULL	p.N150	ENST00000393140.1	37	c.450	CCDS9912.1	14																																																																																			PRIMA1	-	NULL	ENSG00000175785		0.557	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	HGNC	protein_coding	OTTHUMT00000280658.1	-	0	44	0	G	NM_178013		94187802	-1	tier1	-	no_errors	ENST00000393140	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.929	A	A	94187802	G	A	94187802	2	1	73	1	0	0	0	0	0	0	0	1	12534	1136	40	1		1	PRIMA1	14	94187802	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	43080317	94187802	13161738	147	19586											
RYR3	6263	genome.wustl.edu	37	chr15	33954404	33954404	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacctgatgcggttccAttaccacacgctgaggctct	8	9	12	12	2	1	2	0	2	1	0	2	4	2	4	3	4	2	3	3	4	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:33954404A>C	ENST00000389232.4	+	35	4743	c.4673A>C	c.(4672-4674)cAt>cCt	p.H1558P	RYR3_ENST00000415757.3_Missense_Mutation_p.H1558P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1558	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGCGGTTCCATTACCACACG	0.612																																																	0													43	43	43					15																	33954404		2075	4227	6302	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4673A>C	15.37:g.33954404A>C	ENSP00000373884:p.His1558Pro		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.H1558P	ENST00000389232.4	37	c.4673	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	19.48	3.835537	0.71373	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98889	-5.21;-5.21	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	M	0.87456	2.885	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.87578	0.995;0.998	D	0.99453	1.0941	10	0.87932	D	0	.	15.1218	0.72450	1.0:0.0:0.0:0.0	.	1558;1558	Q15413-2;Q15413	.;RYR3_HUMAN	P	1558	ENSP00000373884:H1558P;ENSP00000399610:H1558P	ENSP00000354735:H1558P	H	+	2	0	RYR3	31741696	1.000000	0.71417	0.954000	0.39281	0.553000	0.35397	9.087000	0.94110	2.160000	0.67779	0.529000	0.55759	CAT	RYR3	-	NULL	ENSG00000198838		0.612	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	41	0	A			33954404	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	C	C	33954404	A	C	33954404	3	2	73	1	0	0	0	0	1	0	0	0	13815	217	8	4	4811	4	RYR3	15	33954404	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09		33954404	68576988	148	19587											
RPAP1	26015	genome.wustl.edu	37	chr15	41819264	41819264	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagccgagggcactccagGacctatgggagacaggaggt	11	5	15	10	1	1	1	1	0	0	1	2	5	2	3	3	5	1	1	3	5	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:41819264G>T	ENST00000304330.4	-	14	1865	c.1749C>A	c.(1747-1749)gtC>gtA	p.V583V	RPAP1_ENST00000561603.1_Silent_p.V583V|RPAP1_ENST00000568413.1_5'Flank	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	583						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCACTCCAGGACCTATGGGA	0.547																																																	0													58	58	58					15																	41819264		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1749C>A	15.37:g.41819264G>T			Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.V583	ENST00000304330.4	37	c.1749	CCDS10079.1	15																																																																																			RPAP1	-	NULL	ENSG00000103932		0.547	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	-	0	46	0	G	NM_015540		41819264	-1	tier1	-	no_errors	ENST00000304330	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.701	T	T	41819264	G	T	41819264	2	4	73	1	0	0	0	0	0	0	0	1	13586	1161	41	3		3	RPAP1	15	41819264	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	7864860	41819264	60712128	149	19588											
FGF7	2252	genome.wustl.edu	37	chr15	49776663	49776663	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaaacgaagaaagaaCaaaaaacagcccactttctt	23	5	5	8	1	1	2	0	0	1	2	1	4	1	2	1	0	4	0	1	0	10	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:49776663C>T	ENST00000267843.4	+	4	1158	c.547C>T	c.(547-549)Caa>Taa	p.Q183*	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	183					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		GAAGAAAGAACAAAAAACAGC	0.378																																																	0													12	13	12					15																	49776663		1991	3804	5795	SO:0001587	stop_gained	0			M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"Endogenous ligands"	3685	protein-coding gene	gene with protein product	"keratinocyte growth factor"	148180	"fibroblast growth factor 7 (keratinocyte growth factor)"			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.547C>T	15.37:g.49776663C>T	ENSP00000267843:p.Gln183*		H0YNY5|Q6FGV5|Q96FG5	Nonsense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Q183*	ENST00000267843.4	37	c.547	CCDS10131.1	15	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609810	0.87258	.	.	ENSG00000140285	ENST00000267843	.	.	.	5.62	5.62	0.85841	.	0.281713	0.40302	N	0.001127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	15.9677	0.79987	0.0:0.8652:0.1348:0.0	.	.	.	.	X	183	.	ENSP00000267843:Q183X	Q	+	1	0	FGF7	47563955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.841000	0.39240	2.628000	0.89032	0.650000	0.86243	CAA	FGF7	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000140285		0.378	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF7	HGNC	protein_coding	OTTHUMT00000254374.3	-	0	424	0	C	NM_002009		49776663	1	tier1	-	no_errors	ENST00000267843	ensembl	human	known	74_37	nonsense	37.18	221	132	SNP	1.000	T	T	49776663	C	T	49776663	4	4	73	1	0	0	0	0	0	1	0	0	5879	479	17	3	557	3	FGF7	15	49776663	Nonsense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	7957399	49776663	52754729	150	19589											
LEO1	123169	genome.wustl.edu	37	chr15	52254643	52254643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgcaatcgcattcttgcGtttcattcgtaaaacttcat	11	15	6	9	3	3	1	2	0	1	1	5	1	3	1	0	0	3	4	0	0	3	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:52254643G>T	ENST00000299601.5	-	3	922	c.862C>A	c.(862-864)Cgc>Agc	p.R288S	LEO1_ENST00000315141.5_Missense_Mutation_p.R288S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	288	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GCATTCTTGCGTTTCATTCGT	0.358																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													84	78	80					15																	52254643		2195	4293	6488	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.862C>A	15.37:g.52254643G>T	ENSP00000299601:p.Arg288Ser		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.R288S	ENST00000299601.5	37	c.862	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890229	0.52014	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.54	4.59	0.56863	.	0.271763	0.34802	N	0.003666	T	0.50922	0.1644	L	0.41236	1.265	0.80722	D	1	B;B	0.17667	0.023;0.012	B;B	0.16722	0.016;0.01	T	0.44682	-0.9312	9	0.09084	T	0.74	.	15.752	0.77992	0.0:0.0:0.8629:0.1371	.	288;288	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	S	288;266;288	.	ENSP00000299601:R288S	R	-	1	0	LEO1	50041935	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.110000	0.41873	2.597000	0.87782	0.455000	0.32223	CGC	LEO1	-	NULL	ENSG00000166477		0.358	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	-	0	71	0	G	NM_138792		52254643	-1	tier1	-	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	52254643	G	T	52254643	3	4	73	1	0	0	0	0	1	0	0	0	8754	1145	40	2	1178	2	LEO1	15	52254643	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2477980	52254643	50276749	151	19590											
UNC13C	440279	genome.wustl.edu	37	chr15	54556406	54556406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatggtgccgaagacaaGactcagaccattattacagc	16	7	8	10	1	1	3	1	0	0	3	1	4	1	3	2	1	4	0	2	1	5	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:54556406G>T	ENST00000260323.11	+	8	3489	c.3489G>T	c.(3487-3489)aaG>aaT	p.K1163N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K1161N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K1163N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1163					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCGAAGACAAGACTCAGACCA	0.378																																																	0													58	52	54					15																	54556406		1867	4089	5956	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3489G>T	15.37:g.54556406G>T	ENSP00000260323:p.Lys1163Asn		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K1163N	ENST00000260323.11	37	c.3489	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516457	0.64634	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80824	-1.42;-1.42;-1.42	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	L	0.52905	1.665	0.45704	D	0.99861	D	0.63880	0.993	P	0.53954	0.738	D	0.83385	0.0014	10	0.72032	D	0.01	.	10.3968	0.44205	0.1494:0.0:0.8506:0.0	.	1163	Q8NB66	UN13C_HUMAN	N	1163;1163;1161	ENSP00000260323:K1163N;ENSP00000438156:K1163N;ENSP00000442569:K1161N	ENSP00000260323:K1163N	K	+	3	2	UNC13C	52343698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.149000	0.31626	2.760000	0.94817	0.655000	0.94253	AAG	UNC13C	-	NULL	ENSG00000137766		0.378	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	64	0	G	NM_173166		54556406	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	54556406	G	T	54556406	3	4	73	1	0	0	0	0	1	0	0	0	17035	933	33	3	3515	3	UNC13C	15	54556406	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2301763	54556406	47974986	152	19591											
CCNB2	9133	genome.wustl.edu	37	chr15	59408989	59408989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctccaaatattgaagactTtgtttacatcacagacaatg	14	14	5	8	0	2	3	1	1	1	2	3	3	2	3	1	0	1	1	1	0	5	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:59408989T>C	ENST00000288207.2	+	6	889	c.698T>C	c.(697-699)tTt>tCt	p.F233S	CCNB2_ENST00000559622.1_Missense_Mutation_p.F152S	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	233					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ATTGAAGACTTTGTTTACATC	0.403																																																	0													119	115	116					15																	59408989		2191	4291	6482	SO:0001583	missense	0			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.698T>C	15.37:g.59408989T>C	ENSP00000288207:p.Phe233Ser		B3KM93|Q6FI99	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.F233S	ENST00000288207.2	37	c.698	CCDS10170.1	15	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581156	0.86748	.	.	ENSG00000157456	ENST00000288207	T	0.13538	2.58	5.28	5.28	0.74379	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78991	-0.1985	10	0.87932	D	0	.	14.6947	0.69113	0.0:0.0:0.0:1.0	.	233;233	Q53HG9;O95067	.;CCNB2_HUMAN	S	233	ENSP00000288207:F233S	ENSP00000288207:F233S	F	+	2	0	CCNB2	57196281	1.000000	0.71417	0.946000	0.38457	0.988000	0.76386	7.960000	0.87893	2.125000	0.65367	0.528000	0.53228	TTT	CCNB2	-	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000157456		0.403	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB2	HGNC	protein_coding	OTTHUMT00000256016.1	-	0	62	0	T	NM_004701		59408989	1	tier1	-	no_errors	ENST00000288207	ensembl	human	known	74_37	missense	32.94	57	28	SNP	0.998	C	C	59408989	T	C	59408989	3	2	73	1	0	0	0	0	1	0	0	0	2920	1841	64	4	720	4	CCNB2	15	59408989	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	4852583	59408989	43122403	153	19592											
ZWILCH	55055	genome.wustl.edu	37	chr15	66806415	66806415	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatagtattcatagtggaAaaagtggtaagtactggttt	14	13	11	3	0	1	0	1	0	0	0	1	2	1	1	0	3	1	4	0	3	7	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:66806415A>G	ENST00000307897.5	+	3	575	c.195A>G	c.(193-195)gaA>gaG	p.E65E	ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000446801.2_5'UTR|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_5'UTR|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	65					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCATAGTGGAAAAAGTGGTAA	0.343																																																	0													57	57	57					15																	66806415		2201	4299	6500	SO:0001819	synonymous_variant	0			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"Zwilch, kinetochore associated, homolog (Drosophila)"			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.195A>G	15.37:g.66806415A>G			B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Silent	SNP	pfam_RZZ-complex_zwilch	p.E65	ENST00000307897.5	37	c.195	CCDS10219.1	15																																																																																			ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.343	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4		0	58	0	A	NM_017975		66806415	1			no_errors	ENST00000307897	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.998	G	G	66806415	A	G	66806415	2	3	73	1	0	0	0	0	0	0	0	1	18296	11	1	4		4	ZWILCH	15	66806415	Silent	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	7397426	66806415	35724977	154	19593											
THSD4	79875	genome.wustl.edu	37	chr15	71535400	71535400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacagcaatctcatgcatcGgggcctatcggcagtacaag	11	8	10	12	2	1	0	1	0	1	0	4	0	1	0	1	3	4	4	1	3	5	3	rs191217897		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr15:71535400G>T	ENST00000355327.3	+	5	1011	c.877G>T	c.(877-879)Ggg>Tgg	p.G293W	THSD4_ENST00000261862.6_Missense_Mutation_p.G293W			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	293	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTCATGCATCGGGGCCTATCG	0.552																																																	0													60	62	62					15																	71535400		1999	4188	6187	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.877G>T	15.37:g.71535400G>T	ENSP00000347484:p.Gly293Trp		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.G293W	ENST00000355327.3	37	c.877	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134764	0.77662	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.09445	2.98;2.98	5.76	5.76	0.90799	.	0.625444	0.16805	N	0.198816	T	0.27663	0.0680	L	0.40543	1.245	0.51233	D	0.999914	D	0.89917	1.0	D	0.97110	1.0	T	0.00314	-1.1824	10	0.87932	D	0	.	17.4509	0.87592	0.0:0.0:1.0:0.0	.	293	Q6ZMP0	THSD4_HUMAN	W	293	ENSP00000347484:G293W;ENSP00000261862:G293W	ENSP00000261862:G293W	G	+	1	0	THSD4	69322454	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	6.650000	0.74368	2.721000	0.93114	0.655000	0.94253	GGG	THSD4	-	pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.552	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0	59	0	G	NM_024817		71535400	1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T	T	71535400	G	T	71535400	3	4	73	1	0	0	0	0	1	0	0	0	15925	1116	39	2	891	2	THSD4	15	71535400	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	4728985	71535400	30995992	155	19594											
TPSG1	8912	genome.wustl.edu	37	chr16	1272838	1272838	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagtgcaggatgatctGcctcacggtggagaagtggg	8	8	18	7	1	2	2	1	1	1	1	2	5	2	4	1	5	2	2	1	5	1	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:1272838G>T	ENST00000348261.5	+	0	8084				TPSG1_ENST00000234798.4_Missense_Mutation_p.Q109K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGGATGATCTGCCTCACGGTG	0.647																																																	0													45	31	36					16																	1272838		2196	4297	6493	SO:0001628	intergenic_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180			16.37:g.1272838G>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q109K	ENST00000348261.5	37	c.325	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	g	0.158	-1.084565	0.01888	.	.	ENSG00000116176	ENST00000234798	D	0.92099	-2.97	2.42	-1.63	0.08345	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.75347	0.3837	N	0.02973	-0.45	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.64071	-0.6493	9	0.21014	T	0.42	.	3.818	0.08824	0.1463:0.0:0.3022:0.5515	.	109	Q9NRR2	TRYG1_HUMAN	K	109	ENSP00000234798:Q109K	ENSP00000234798:Q109K	Q	-	1	0	TPSG1	1212839	0.000000	0.05858	0.002000	0.10522	0.187000	0.23431	0.085000	0.14912	-0.068000	0.12953	0.556000	0.70494	CAG	TPSG1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000116176		0.647	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	TPSG1	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	113	0	G	NM_001005407		1272838	-1	tier1	-	no_errors	ENST00000234798	ensembl	human	known	74_37	missense	65.71	36	69	SNP	0.000	T	T	1272838	G	T	1272838	1	4	73	0	1	0	0	0	0	0	0	0	16474	1328	46	3		3	TPSG1	16	1272838	IGR	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		1272838	89081915	156	19595											
FLYWCH1	84256	genome.wustl.edu	37	chr16	2980438	2980438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtccctggagttcctgaGgacaccattcgggggccgcc	6	8	13	14	2	1	1	1	1	0	0	4	3	3	3	5	4	0	1	5	4	0	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:2980438G>A	ENST00000253928.9	+	4	758	c.353G>A	c.(352-354)aGg>aAg	p.R118K	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.R118K|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.R117K			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	118						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GAGTTCCTGAGGACACCATTC	0.612																																																	0													12	14	13					16																	2980438		1926	4057	5983	SO:0001583	missense	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.353G>A	16.37:g.2980438G>A	ENSP00000253928:p.Arg118Lys		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	pfam_Znf_FLYWCH	p.R118K	ENST00000253928.9	37	c.353		16	.	.	.	.	.	.	.	.	.	.	G	4.194	0.034653	0.08101	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.42	-3.23	0.05109	Zinc finger, FLYWCH-type (1);	.	.	.	.	T	0.20129	0.0484	N	0.13098	0.295	0.20975	N	0.999814	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.33111	-0.9881	8	0.10902	T	0.67	.	9.0119	0.36146	0.6809:0.0:0.3191:0.0	.	118;117	Q4VC44;Q4VC44-2	FWCH1_HUMAN;.	K	118;118;117	.	ENSP00000253928:R118K	R	+	2	0	FLYWCH1	2920439	0.168000	0.22989	0.964000	0.40570	0.846000	0.48090	-0.991000	0.03728	-0.734000	0.04843	-0.794000	0.03295	AGG	FLYWCH1	-	pfam_Znf_FLYWCH	ENSG00000059122		0.612	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	-	0	86	0	G	NM_032296		2980438	1	tier1	-	no_errors	ENST00000399667	ensembl	human	known	74_37	missense	49.21	32	31	SNP	0.965	A	A	2980438	G	A	2980438	3	1	73	1	0	0	0	0	1	0	0	0	5969	1000	35	3	356	3	FLYWCH1	16	2980438	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1707600	2980438	87374315	157	19596											
NLRC3	197358	genome.wustl.edu	37	chr16	3614982	3614982	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacctgctcggctggggagCccgtaccgtggccctggccg	3	7	15	16	4	1	0	1	0	0	0	2	1	1	1	5	5	3	3	5	5	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:3614982C>T	ENST00000301749.7	-	0	461				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGGGGAGCCCGTACCGTG	0.672																																																	0													19	24	22					16																	3614982		1937	4132	6069			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614982C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.G66D	ENST00000301749.7	37	c.197		16	.	.	.	.	.	.	.	.	.	.	C	10.84	1.462899	0.26248	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.79845	-0.58;-0.62;-0.59;-1.31	4.96	3.94	0.45596	.	0.461058	0.22417	N	0.060324	T	0.69851	0.3157	.	.	.	0.20563	N	0.99989	B	0.13594	0.008	B	0.10450	0.005	T	0.62081	-0.6929	9	0.66056	D	0.02	.	7.7175	0.28712	0.1834:0.639:0.1776:0.0	.	66	C9JLH9	.	D	19;19;19;66;36	ENSP00000301749:G19D;ENSP00000352039:G19D;ENSP00000414415:G66D;ENSP00000323897:G36D	ENSP00000301749:G19D	G	-	2	0	NLRC3	3554983	0.108000	0.22018	0.927000	0.36925	0.402000	0.30811	1.274000	0.33132	2.320000	0.78422	0.650000	0.86243	GGC	NLRC3	-	NULL	ENSG00000167984		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene			0	17	0	C	NM_178844		3614982	-1			no_errors	ENST00000448023	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.590	T	T	3614982	C	T	3614982	1	4	73	0	1	0	0	0	0	0	0	0	10507	739	26	3		3	NLRC3	16	3614982	RNA	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	634544	3614982	86739771	158	19597											
SRL	6345	genome.wustl.edu	37	chr16	4245563	4245563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctaaattacctctttcttGctgcttgcggttctcgatga	6	16	9	10	2	3	1	0	1	3	0	4	2	3	1	1	2	4	4	1	2	3	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:4245563G>T	ENST00000399609.3	-	5	613	c.601C>A	c.(601-603)Caa>Aaa	p.Q201K	SRL_ENST00000537996.1_Missense_Mutation_p.Q159K	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	660	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CCTCTTTCTTGCTGCTTGCGG	0.448																																																	0													128	125	126					16																	4245563		1914	4131	6045	SO:0001583	missense	0			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.601C>A	16.37:g.4245563G>T	ENSP00000382518:p.Gln201Lys			Missense_Mutation	SNP	pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.Q201K	ENST00000399609.3	37	c.601	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180996	0.38511	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96716	-4.1;-4.1	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.95351	0.8491	N	0.20685	0.6	0.80722	D	1	D	0.58268	0.982	D	0.70227	0.968	D	0.90858	0.4736	10	0.02654	T	1	-11.4775	19.0659	0.93110	0.0:0.0:1.0:0.0	.	201	Q86TD4-2	.	K	201;659;159	ENSP00000382518:Q201K;ENSP00000440350:Q159K	ENSP00000333285:Q659K	Q	-	1	0	SRL	4185564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.567000	0.98161	2.797000	0.96272	0.655000	0.94253	CAA	SRL	-	pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	ENSG00000185739		0.448	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	HGNC	protein_coding	OTTHUMT00000438087.1	-	0	76	0	G	XM_064152		4245563	-1	tier1	-	no_errors	ENST00000399609	ensembl	human	known	74_37	missense	27.66	34	13	SNP	1.000	T	T	4245563	G	T	4245563	3	4	73	1	0	0	0	0	1	0	0	0	15197	1328	46	3	828	3	SRL	16	4245563	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	630581	4245563	86109190	159	19598											
TFAP4	7023	genome.wustl.edu	37	chr16	4311926	4311926	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcctctgcccgccgtcGcttgggggacgagccgctca	3	9	13	16	5	2	0	1	0	1	0	4	2	3	1	4	2	2	2	4	2	0	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:4311926G>A	ENST00000204517.6	-	4	707	c.379C>T	c.(379-381)Cga>Tga	p.R127*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	127					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCCCGCCGTCGCTTGGGGGAC	0.662											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28	27	27					16																	4311926		2196	4300	6496	SO:0001587	stop_gained	0			X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"Basic helix-loop-helix proteins"	11745	protein-coding gene	gene with protein product		600743	"transcription factor AP-4 (activating enhancer-binding protein 4)"			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.379C>T	16.37:g.4311926G>A	ENSP00000204517:p.Arg127*	617	O60409	Nonsense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R127*	ENST00000204517.6	37	c.379	CCDS10510.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.948574	0.97134	.	.	ENSG00000090447	ENST00000204517	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.46	0.61221	0.0:0.0:0.8432:0.1568	.	.	.	.	X	127	.	ENSP00000204517:R127X	R	-	1	2	TFAP4	4251927	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.498000	0.66931	2.457000	0.83068	0.561000	0.74099	CGA	TFAP4	-	NULL	ENSG00000090447		0.662	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP4	HGNC	protein_coding	OTTHUMT00000251595.2	-	0	69	0	G	NM_003223		4311926	-1	tier1	-	no_errors	ENST00000204517	ensembl	human	known	74_37	nonsense	32.08	35	17	SNP	1.000	A	A	4311926	G	A	4311926	4	1	73	1	0	0	0	0	0	1	0	0	15839	1095	38	1	653	1	TFAP4	16	4311926	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	66363	4311926	86042827	160	19599											
MVP	9961	genome.wustl.edu	37	chr16	29856136	29856136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcagaggacccgggacGccctgcaacgcagcgtccag	9	4	14	14	4	1	1	1	0	0	1	2	4	2	4	3	3	3	2	3	3	1	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:29856136G>A	ENST00000357402.5	+	11	2095	c.1957G>A	c.(1957-1959)Gcc>Acc	p.A653T	MVP_ENST00000395353.1_Missense_Mutation_p.A653T	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	653					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GACCCGGGACGCCCTGCAACG	0.652																																																	0													70	71	70					16																	29856136		2197	4300	6497	SO:0001583	missense	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"lung resistance-related protein"	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1957G>A	16.37:g.29856136G>A	ENSP00000349977:p.Ala653Thr		Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.A653T	ENST00000357402.5	37	c.1957	CCDS10656.1	16	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855894	0.91355	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.32988	1.43;1.43	6.07	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	M	0.81682	2.555	0.80722	D	1	D	0.64830	0.994	P	0.50825	0.651	T	0.56715	-0.7933	10	0.72032	D	0.01	-24.4124	14.5873	0.68335	0.0:0.0:0.853:0.147	.	653	Q14764	MVP_HUMAN	T	653	ENSP00000349977:A653T;ENSP00000378760:A653T	ENSP00000349977:A653T	A	+	1	0	MVP	29763637	1.000000	0.71417	0.995000	0.50966	0.711000	0.40976	6.474000	0.73578	1.561000	0.49584	0.655000	0.94253	GCC	MVP	-	NULL	ENSG00000013364		0.652	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0	70	0	G	NM_005115		29856136	1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	A	A	29856136	G	A	29856136	3	1	73	1	0	0	0	0	1	0	0	0	10034	1087	38	1	1995	1	MVP	16	29856136	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	25544210	29856136	60498617	161	19600											
SALL1	6299	genome.wustl.edu	37	chr16	51174769	51174769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactcccaaagaccttcGcgcagaacctgcacttgtgt	9	10	8	14	2	1	2	1	0	0	2	3	2	2	2	3	0	2	2	3	0	2	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:51174769G>A	ENST00000251020.4	-	2	1397	c.1364C>T	c.(1363-1365)gCg>gTg	p.A455V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.A358V	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	455					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAAGACCTTCGCGCAGAACCT	0.512																																					GBM(103;1352 1446 1855 4775 8890)												0													104	96	99					16																	51174769		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1364C>T	16.37:g.51174769G>A	ENSP00000251020:p.Ala455Val		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A455V	ENST00000251020.4	37	c.1364	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818098	0.71028	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07908	3.15;3.15	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048774	0.85682	D	0.000000	T	0.18964	0.0455	M	0.65975	2.015	0.58432	D	0.999993	D	0.60575	0.988	P	0.48795	0.59	T	0.00899	-1.1522	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	455	Q9NSC2	SALL1_HUMAN	V	455;358;419	ENSP00000251020:A455V;ENSP00000407914:A358V	ENSP00000251020:A455V	A	-	2	0	SALL1	49732270	1.000000	0.71417	0.817000	0.32601	0.990000	0.78478	6.217000	0.72218	2.386000	0.81285	0.563000	0.77884	GCG	SALL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103449		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	63	0	G	NM_002968		51174769	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	60.78	20	31	SNP	1.000	A	A	51174769	G	A	51174769	3	1	73	1	0	0	0	0	1	0	0	0	13855	1087	38	1	2618	1	SALL1	16	51174769	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	21318633	51174769	39179984	162	19601											
SALL1	6299	genome.wustl.edu	37	chr16	51175993	51175993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaactcggcacagcacCggccacagacgtgggcatcc	12	3	11	15	3	0	2	0	0	0	2	2	2	1	2	3	3	2	3	3	3	2	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr16:51175993C>T	ENST00000251020.4	-	2	173	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	47					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCACAGCACCGGCCACAGAC	0.443																																					GBM(103;1352 1446 1855 4775 8890)												0													96	101	99					16																	51175993		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.140G>A	16.37:g.51175993C>T	ENSP00000251020:p.Arg47Gln		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R47Q	ENST00000251020.4	37	c.140	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003630	0.74932	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.42513	0.97	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.50600	-0.8809	10	0.45353	T	0.12	.	19.1099	0.93313	0.0:1.0:0.0:0.0	.	47	Q9NSC2	SALL1_HUMAN	Q	47	ENSP00000251020:R47Q	ENSP00000251020:R47Q	R	-	2	0	SALL1	49733494	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.978000	0.63799	2.499000	0.84300	0.555000	0.69702	CGG	SALL1	-	NULL	ENSG00000103449		0.443	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	85	0	C	NM_002968		51175993	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	T	T	51175993	C	T	51175993	3	4	73	1	0	0	0	0	1	0	0	0	13855	652	23	1	3842	1	SALL1	16	51175993	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1224	51175993	39178760	163	19602											
TP53	7157	genome.wustl.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	77	0	T	NM_000546		7578190	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.998	C	C	7578190	T	C	7578190	3	2	73	1	0	0	0	0	1	0	0	0	16429	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09		7578190	73617020	164	19603											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8215725	8215725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtccccccacccaagcCgtctgggtcaccctgcacgc	6	6	8	21	2	2	0	1	0	1	0	4	0	4	0	7	1	2	1	7	1	1	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:8215725C>T	ENST00000361926.3	+	2	478	c.368C>T	c.(367-369)cCg>cTg	p.P123L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P123L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCCAAGCCGTCTGGGTCA	0.682																																																	0													69	73	72					17																	8215725		2203	4300	6503	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.368C>T	17.37:g.8215725C>T	ENSP00000355026:p.Pro123Leu		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P123L	ENST00000361926.3	37	c.368	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128201	0.21041	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.81330	-1.48;-1.48	5.02	4.03	0.46877	.	2.150550	0.04091	U	0.311351	T	0.69513	0.3119	L	0.27053	0.805	0.35060	D	0.76148	P;P	0.49635	0.926;0.926	B;B	0.35114	0.122;0.196	T	0.70063	-0.4975	10	0.62326	D	0.03	-25.6469	9.6417	0.39844	0.0:0.9022:0.0:0.0978	.	123;123	D3DTR7;O94989	.;ARHGF_HUMAN	L	123	ENSP00000355026:P123L;ENSP00000412505:P123L	ENSP00000355026:P123L	P	+	2	0	ARHGEF15	8156450	0.976000	0.34144	1.000000	0.80357	0.448000	0.32197	2.185000	0.42584	2.631000	0.89168	0.555000	0.69702	CCG	ARHGEF15	-	NULL	ENSG00000198844		0.682	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0	104	0	C	NM_173728		8215725	1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	missense	87.10	8	54	SNP	0.996	T	T	8215725	C	T	8215725	3	4	73	1	0	0	0	0	1	0	0	0	898	652	23	1	370	1	ARHGEF15	17	8215725	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	637535	8215725	72979485	165	19604											
MYH3	4621	genome.wustl.edu	37	chr17	10542658	10542658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttggttttgttcaaaGaattgactttgtcttcttca	7	20	7	7	0	5	2	2	1	3	1	5	2	5	2	0	1	1	3	0	1	2	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:10542658G>T	ENST00000583535.1	-	24	3146	c.3059C>A	c.(3058-3060)tCt>tAt	p.S1020Y	MYH3_ENST00000226209.7_Missense_Mutation_p.S1020Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1020					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTTGTTCAAAGAATTGACTTT	0.473																																																	0													96	92	93					17																	10542658		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3059C>A	17.37:g.10542658G>T	ENSP00000464317:p.Ser1020Tyr		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1020Y	ENST00000583535.1	37	c.3059	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566602	0.65651	.	.	ENSG00000109063	ENST00000226209	D	0.87887	-2.31	5.62	5.62	0.85841	.	.	.	.	.	D	0.88959	0.6579	M	0.82323	2.585	0.47123	D	0.999322	P	0.37061	0.58	B	0.34652	0.187	D	0.89536	0.3789	9	0.62326	D	0.03	.	20.0275	0.97527	0.0:0.0:1.0:0.0	.	1020	P11055	MYH3_HUMAN	Y	1020	ENSP00000226209:S1020Y	ENSP00000226209:S1020Y	S	-	2	0	MYH3	10483383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.773000	0.75006	2.811000	0.96726	0.555000	0.69702	TCT	MYH3	-	NULL	ENSG00000109063		0.473	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	76	0	G	NM_002470		10542658	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	10542658	G	T	10542658	3	4	73	1	0	0	0	0	1	0	0	0	10074	942	33	3	2835	3	MYH3	17	10542658	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2326933	10542658	70652552	166	19605											
SLC47A1	55244	genome.wustl.edu	37	chr17	19451353	19451353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgcagcggagtgcgcTcgtcctgctcctctgctgct	3	11	12	15	3	1	0	0	0	1	0	5	2	4	1	3	1	6	5	3	1	0	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:19451353T>C	ENST00000270570.4	+	4	448	c.362T>C	c.(361-363)cTc>cCc	p.L121P	SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000575023.1_Missense_Mutation_p.L121P|SLC47A1_ENST00000457293.1_Missense_Mutation_p.L121P|SLC47A1_ENST00000542886.1_Missense_Mutation_p.L121P|SLC47A1_ENST00000436810.2_Missense_Mutation_p.L98P|SLC47A1_ENST00000571335.1_5'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.L121P	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	121					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	CGGAGTGCGCTCGTCCTGCTC	0.602																																																	0													142	118	126					17																	19451353		2203	4300	6503	SO:0001583	missense	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.362T>C	17.37:g.19451353T>C	ENSP00000270570:p.Leu121Pro		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.L121P	ENST00000270570.4	37	c.362	CCDS11209.1	17	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745215	0.49151	.	.	ENSG00000142494	ENST00000436810;ENST00000270570;ENST00000457293;ENST00000542886;ENST00000395585	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	H	0.96269	3.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.993	T	0.81348	-0.0973	10	0.87932	D	0	-15.3473	13.8392	0.63428	0.0:0.0:0.0:1.0	.	98;121;121;121	E7EX57;B4DYV3;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	P	98;121;121;121;121	ENSP00000407155:L98P;ENSP00000270570:L121P;ENSP00000415586:L121P;ENSP00000440435:L121P;ENSP00000378951:L121P	ENSP00000270570:L121P	L	+	2	0	SLC47A1	19391945	1.000000	0.71417	0.044000	0.18714	0.009000	0.06853	7.403000	0.79983	1.879000	0.54435	0.379000	0.24179	CTC	SLC47A1	-	pfam_MATE,tigrfam_MATE	ENSG00000142494		0.602	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	-	0	60	0	T	NM_018242		19451353	1	tier1	-	no_errors	ENST00000395585	ensembl	human	known	74_37	missense	57.14	9	12	SNP	0.997	C	C	19451353	T	C	19451353	3	2	73	1	0	0	0	0	1	0	0	0	14692	1551	54	4	376	4	SLC47A1	17	19451353	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	8908695	19451353	61743857	167	19606											
SLFN12	55106	genome.wustl.edu	37	chr17	33738520	33738520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaagtatttccttcttGtaaaatagtaggattcaggg	12	14	9	6	0	3	0	2	0	1	0	4	1	4	1	1	2	1	4	1	2	6	8	rs556155131		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:33738520G>T	ENST00000394562.1	-	6	2097	c.1574C>A	c.(1573-1575)aCa>aAa	p.T525K	SLFN12_ENST00000304905.5_Missense_Mutation_p.T525K|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000452764.3_Missense_Mutation_p.T525K|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	525							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTCCTTCTTGTAAAATAGTA	0.388													G|||	1	0.000199681	0	0	5008	,	,		19007	0		0	False		,,,				2504	0.001																0													69	68	68					17																	33738520		2203	4300	6503	SO:0001583	missense	0			AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1574C>A	17.37:g.33738520G>T	ENSP00000378063:p.Thr525Lys		A8K711|Q9NP47	Missense_Mutation	SNP	pfam_ATPase_AAA-4	p.T525K	ENST00000394562.1	37	c.1574	CCDS11295.1	17	.	.	.	.	.	.	.	.	.	.	G	10.72	1.431143	0.25726	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	T;T;T	0.03889	3.77;3.77;3.77	2.34	-3.17	0.05202	.	.	.	.	.	T	0.03136	0.0092	L	0.36672	1.1	0.09310	N	1	B	0.24963	0.115	B	0.20577	0.03	T	0.46148	-0.9212	9	0.21014	T	0.42	.	2.937	0.05817	0.5069:0.0:0.2835:0.2096	.	525	Q8IYM2	SLN12_HUMAN	K	525	ENSP00000378063:T525K;ENSP00000302077:T525K;ENSP00000394903:T525K	ENSP00000302077:T525K	T	-	2	0	SLFN12	30762633	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.530000	0.00944	-0.750000	0.04740	-0.310000	0.09108	ACA	SLFN12	-	NULL	ENSG00000172123		0.388	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFN12	HGNC	protein_coding	OTTHUMT00000256491.1	-	0	104	0	G	NM_018042		33738520	-1	tier1	-	no_errors	ENST00000304905	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	33738520	G	T	33738520	3	4	73	1	0	0	0	0	1	0	0	0	14779	1377	48	3	166	3	SLFN12	17	33738520	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	14287167	33738520	47456690	168	19607											
PCGF2	7703	genome.wustl.edu	37	chr17	36892390	36892391	+	Missense_Mutation	DNP	CC	CC	TA																															gtccatgagggtgtagtattCcttcagtggctcgtcctcgt																										TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:36892390_36892391CC>TA	ENST00000580830.1	-	11	1310_1311	c.609_610GG>TA	c.(607-612)aaGGaa>aaTAaa	p.203_204KE>NK	PCGF2_ENST00000360797.2_Missense_Mutation_p.203_204KE>NK|PCGF2_ENST00000578109.1_Nonsense_Mutation_p.G151*|PCGF2_ENST00000581345.1_Missense_Mutation_p.203_204KE>NK|PCGF2_ENST00000585100.1_Nonsense_Mutation_p.G205*|PCGF2_ENST00000579882.1_Nonsense_Mutation_p.G205*			P35227	PCGF2_HUMAN	polycomb group ring finger 2	203					anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GTGTAGTATTCCTTCAGTGGCT	0.649																																																	0																																										SO:0001583	missense	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	12929	protein-coding gene	gene with protein product		600346	"ring finger protein 110"	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.609_610delinsTA	17.37:g.36892390_36892391delinsTA	ENSP00000461961:p.K203_E204delinsNK		A6NGD8	Missense_Mutation|Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E204K|p.G205*	ENST00000580830.1	37	c.610|c.613	CCDS32638.1	17																																																																																			PCGF2	-	NULL	ENSG00000056661		0.649	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF2	HGNC	protein_coding	OTTHUMT00000442246.2	-	0	29	0	C	NM_007144		36892390|36892391	-1	tier1	-	no_errors	ENST00000360797|ENST00000579882	ensembl	human	known|putative	74_37	missense|nonsense	36.21	37	21	SNP	1.000	T|A	TA	36892391	CC	TA	36892390	3	4	73	1	0	0	0	0	1	0	0	0	11614	864	30	3	432	3	PCGF2	17	36892390	Missense_Mutation	DNP	CC	TCGA-L5-A88V-01A-11D-A351-09	3153870	36892390	44302820	169	19608											
RPL23	9349	genome.wustl.edu	37	chr17	37008985	37008985	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgatatacaggtttttggctCctacaaaagaatgtaaataa	16	13	7	5	0	0	2	0	1	0	1	1	2	1	2	1	2	2	3	1	2	9	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37008985C>G	ENST00000479035.2	-	3	230	c.98G>C	c.(97-99)gGa>gCa	p.G33A	SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000394332.1_Splice_Site_p.G33A|RPL23_ENST00000245857.5_5'UTR|SNORA21_ENST00000516890.1_RNA|RPL23_ENST00000577407.1_Splice_Site_p.G33A|RPL23_ENST00000394333.1_Splice_Site_p.G33A	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	33					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						GTTTTTGGCTCCTACAAAAGA	0.473																																																	0													56	58	57					17																	37008985		2203	4300	6503	SO:0001630	splice_region_variant	0			X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"L ribosomal proteins"	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.98-1G>C	17.37:g.37008985C>G			P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Missense_Mutation	SNP	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	p.G33A	ENST00000479035.2	37	c.98	CCDS11330.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664697	0.88251	.	.	ENSG00000125691	ENST00000479035;ENST00000394333;ENST00000394332;ENST00000378096	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.31	5.31	0.75309	Ribosomal protein L14 domain (2);	0.000000	0.85682	D	0.000000	D	0.96321	0.8800	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98427	1.0580	10	0.87932	D	0	.	17.5202	0.87784	0.0:1.0:0.0:0.0	.	33;33	B9ZVP7;P62829	.;RL23_HUMAN	A	33;33;33;37	ENSP00000420311:G33A;ENSP00000377866:G33A;ENSP00000377865:G33A;ENSP00000367336:G37A	ENSP00000367336:G37A	G	-	2	0	RPL23	34262511	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.750000	0.85110	2.498000	0.84270	0.491000	0.48974	GGA	RPL23	-	pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom	ENSG00000125691		0.473	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL23	HGNC	protein_coding	OTTHUMT00000256785.3	-	0	51	0	C	NM_000978	Missense_Mutation	37008985	-1	tier1	-	no_errors	ENST00000479035	ensembl	human	known	74_37	missense	88.18	95	716	SNP	1.000	G	G	37008985	C	G	37008985	5	3	73	1	0	0	0	0	0	0	1	0	13615	869	30	5	336	5	RPL23	17	37008985	Splice_Site	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	116595	37008985	44186225	170	19609											
ERBB2	2064	genome.wustl.edu	37	chr17	37879610	37879610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcggtggttggcattcTgctggtcgtggtcttggggg	1	14	18	8	2	3	0	0	0	3	0	4	0	3	0	0	7	2	3	0	7	0	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:37879610T>A	ENST00000269571.5	+	17	2144	c.1985T>A	c.(1984-1986)cTg>cAg	p.L662Q	ERBB2_ENST00000584450.1_Missense_Mutation_p.L662Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.L647Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.L632Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.L386Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.L632Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.L632Q			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	662					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GTTGGCATTCTGCTGGTCGTG	0.607		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	0													127	114	119					17																	37879610		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1985T>A	17.37:g.37879610T>A	ENSP00000269571:p.Leu662Gln		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L662Q	ENST00000269571.5	37	c.1985	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	T	13.46	2.242719	0.39598	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.79653	-1.28;-1.28;-1.29;-1.28;-1.28	4.97	4.97	0.65823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	D	0.88969	0.6582	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.71414	0.957;0.954;0.973	D	0.90038	0.4140	9	0.87932	D	0	.	9.7218	0.40308	0.0:0.0821:0.0:0.9179	.	386;647;662	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	632;647;386;662;632	ENSP00000385185:L632Q;ENSP00000446466:L647Q;ENSP00000404047:L386Q;ENSP00000269571:L662Q;ENSP00000443562:L632Q	ENSP00000269571:L662Q	L	+	2	0	ERBB2	35133136	1.000000	0.71417	0.993000	0.49108	0.690000	0.40134	3.950000	0.56676	1.880000	0.54463	0.459000	0.35465	CTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000141736		0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	79	0	T			37879610	1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	25.19	1780	601	SNP	0.998	A	A	37879610	T	A	37879610	3	1	73	1	0	0	0	0	1	0	0	0	5222	1580	55	5	2051	5	ERBB2	17	37879610	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	870625	37879610	43315600	171	19610											
HOXB9	3219	genome.wustl.edu	37	chr17	46700497	46700497	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccagttggcggaggggttgGctgaaagagaagcagcgata	11	6	18	6	2	0	2	0	1	0	1	0	5	0	3	1	5	2	4	1	5	3	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:46700497G>T	ENST00000311177.5	-	2	725	c.518C>A	c.(517-519)aCc>aAc	p.T173N	HOXB7_ENST00000567101.2_Intron|HOXB9_ENST00000550387.1_Splice_Site_p.S93R	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	173				T -> A (in Ref. 5; CAA34294). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GGAGGGGTTGGCTGAAAGAGA	0.557																																																	0													80	77	78					17																	46700497		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"Homeoboxes / ANTP class : HOXL subclass"	5120	protein-coding gene	gene with protein product		142964	"homeo box B9"	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.518-1C>A	17.37:g.46700497G>T			B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.T173N	ENST00000311177.5	37	c.518	CCDS11534.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.807|5.807	0.333177|0.333177	0.11013|0.11013	.|.	.|.	ENSG00000170689|ENSG00000170689	ENST00000550387|ENST00000311177	.|D	.|0.95622	.|-3.76	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Homeodomain-related (1);Homeodomain-like (1);	.|0.356618	.|0.27901	.|N	.|0.017381	D|D	0.82356|0.82356	0.5019|0.5019	N|N	0.00605|0.00605	-1.335|-1.335	0.30686|0.30686	N|N	0.751789|0.751789	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.70938|0.70938	-0.4736|-0.4736	6|10	0.27082|0.02654	T|T	0.32|1	.|.	14.6881|14.6881	0.69065|0.69065	0.0:0.2651:0.7349:0.0|0.0:0.2651:0.7349:0.0	.|.	.|173	.|P17482	.|HXB9_HUMAN	R|N	93|173	.|ENSP00000309439:T173N	ENSP00000447530:S93R|ENSP00000309439:T173N	S|T	-|-	3|2	2|0	HOXB9|HOXB9	44055496|44055496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.321000|2.321000	0.43805|0.43805	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	AGC|ACC	HOXB9	-	superfamily_Homeodomain-like,pirsf_Homeobox_Hox9	ENSG00000170689		0.557	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2	-	0	44	0	G		Missense_Mutation	46700497	-1	tier1	-	no_errors	ENST00000311177	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	46700497	G	T	46700497	5	4	73	1	0	0	0	0	0	0	1	0	7335	1217	42	3	238	3	HOXB9	17	46700497	Splice_Site	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	8820887	46700497	34494713	172	19611											
CA10	56934	genome.wustl.edu	37	chr17	49731019	49731019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttttataaatatagaaaCtaccaccaatccatttggac	16	13	3	9	0	0	1	0	0	0	1	1	2	1	2	3	1	3	0	3	1	9	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:49731019C>T	ENST00000285273.4	-	6	1655	c.544G>A	c.(544-546)Gtt>Att	p.V182I	CA10_ENST00000570565.1_Missense_Mutation_p.V107I|CA10_ENST00000442502.2_Missense_Mutation_p.V182I|CA10_ENST00000340813.6_Missense_Mutation_p.V188I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000451037.2_Missense_Mutation_p.V182I	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	182					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AATATAGAAACTACCACCAAT	0.408																																																	0													95	91	93					17																	49731019		2203	4300	6503	SO:0001583	missense	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.544G>A	17.37:g.49731019C>T	ENSP00000285273:p.Val182Ile		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.V188I	ENST00000285273.4	37	c.562	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844002	0.32606	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.55	5.55	0.83447	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.120653	0.56097	D	0.000036	T	0.50548	0.1622	N	0.16833	0.445	0.50467	D	0.999876	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.002;0.003	T	0.46048	-0.9219	10	0.07644	T	0.81	.	12.2177	0.54416	0.0:0.9224:0.0:0.0776	.	182;188;107	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	I	182;182;182;188	ENSP00000390666:V182I;ENSP00000285273:V182I;ENSP00000405388:V182I;ENSP00000340363:V188I	ENSP00000285273:V182I	V	-	1	0	CA10	47086018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.573000	0.60893	2.753000	0.94483	0.655000	0.94253	GTT	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000154975		0.408	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	-	0	86	0	C	NM_020178		49731019	-1	tier1	-	no_errors	ENST00000340813	ensembl	human	known	74_37	missense	54.67	34	41	SNP	1.000	T	T	49731019	C	T	49731019	3	4	73	1	0	0	0	0	1	0	0	0	2518	565	20	3	462	3	CA10	17	49731019	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	3030522	49731019	31464191	173	19612											
BZRAP1	9256	genome.wustl.edu	37	chr17	56397906	56397906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacctccagcagctgcaCggctccttcatgttccctct	5	11	6	19	1	2	0	1	0	1	0	5	0	5	0	5	1	4	5	5	1	1	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr17:56397906C>T	ENST00000343736.4	-	11	1622	c.1459G>A	c.(1459-1461)Gtg>Atg	p.V487M	BZRAP1_ENST00000355701.3_Missense_Mutation_p.V487M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.V427M			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	487						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCAGCTGCACGGCTCCTTCA	0.607																																																	0													21	18	19					17																	56397906		2202	4299	6501	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1459G>A	17.37:g.56397906C>T	ENSP00000345824:p.Val487Met		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.V487M	ENST00000343736.4	37	c.1459	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243929	0.79912	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.03920	3.76;3.76;3.76	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.14787	0.0357	L	0.52573	1.65	0.34166	D	0.669206	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.974;0.998;0.998	T	0.02625	-1.1132	10	0.72032	D	0.01	.	10.5744	0.45219	0.0:0.9119:0.0:0.0881	.	487;427;487	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	M	487;487;427	ENSP00000347929:V487M;ENSP00000345824:V487M;ENSP00000268893:V427M	ENSP00000268893:V427M	V	-	1	0	BZRAP1	53752905	0.996000	0.38824	0.974000	0.42286	0.953000	0.61014	3.487000	0.53222	2.586000	0.87340	0.561000	0.74099	GTG	BZRAP1	-	NULL	ENSG00000005379		0.607	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0	120	0	C	NM_004758		56397906	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	missense	60.19	41	62	SNP	0.997	T	T	56397906	C	T	56397906	3	4	73	1	0	0	0	0	1	0	0	0	1581	536	19	1	4198	1	BZRAP1	17	56397906	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	6666887	56397906	24797304	174	19613											
EPB41L3	23136	genome.wustl.edu	37	chr18	5478309	5478309	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgcttttaggctttttGacaatctttaatggagaccg	9	16	9	7	1	1	2	0	1	1	1	1	3	1	2	1	2	2	3	1	2	3	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:5478309G>T	ENST00000341928.2	-	3	652	c.312C>A	c.(310-312)gtC>gtA	p.V104V	EPB41L3_ENST00000400111.3_Silent_p.V104V|EPB41L3_ENST00000342933.3_Silent_p.V104V|EPB41L3_ENST00000540638.2_Silent_p.V104V|EPB41L3_ENST00000544123.1_Silent_p.V104V|RP11-286N3.1_ENST00000577527.1_RNA	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	104					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TAGGCTTTTTGACAATCTTTA	0.398																																																	0													179	162	168					18																	5478309		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.312C>A	18.37:g.5478309G>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V104	ENST00000341928.2	37	c.312	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.398	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	90	0	G	NM_012307		5478309	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	silent	16.30	77	15	SNP	0.998	T	T	5478309	G	T	5478309	2	4	73	1	0	0	0	0	0	0	0	1	5170	1277	45	3		3	EPB41L3	18	5478309	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		5478309	72598939	175	19614											
LAMA1	284217	genome.wustl.edu	37	chr18	6959479	6959479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctccgatcagcatgaCggaaaagaagggctggggag	11	6	16	8	2	1	2	1	1	0	1	2	5	2	4	2	4	2	3	2	4	3	1	rs367598361		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:6959479C>T	ENST00000389658.3	-	54	7732	c.7639G>A	c.(7639-7641)Gtc>Atc	p.V2547I	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2547	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATCAGCATGACGGAAAAGAAG	0.468																																																	0								T	ILE/VAL	0,4406		0,0,2203	75	63	67		7639	3.3	0.5	18		67	1,8599	819.1+/-406.8	0,1,4299	no	missense	LAMA1	NM_005559.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2547/3076	6959479	1,13005	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7639G>A	18.37:g.6959479C>T	ENSP00000374309:p.Val2547Ile			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.V2547I	ENST00000389658.3	37	c.7639	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.739594	0.00681	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.79352	-1.26	5.72	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.060389	0.64402	N	0.000009	T	0.47581	0.1453	N	0.02315	-0.6	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.35475	-0.9787	10	0.06236	T	0.91	.	9.5839	0.39504	0.0:0.1978:0.0:0.8022	.	2547	P25391	LAMA1_HUMAN	I	2547	ENSP00000374309:V2547I	ENSP00000374309:V2547I	V	-	1	0	LAMA1	6949479	1.000000	0.71417	0.496000	0.27539	0.004000	0.04260	1.055000	0.30467	0.117000	0.18138	-1.204000	0.01649	GTC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.468	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	73	0	C	NM_005559		6959479	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	70.73	24	58	SNP	0.994	T	T	6959479	C	T	6959479	3	4	73	1	0	0	0	0	1	0	0	0	8633	536	19	1	1628	1	LAMA1	18	6959479	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1481170	6959479	71117769	176	19615											
CDH2	1000	genome.wustl.edu	37	chr18	25570060	25570060	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actacaaacagcatttcataCctaatattttgctgcatata	15	14	3	9	0	1	0	1	0	0	0	1	0	1	0	1	0	6	3	1	0	7	9			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:25570060C>A	ENST00000269141.3	-	10	2022		c.e10+1		CDH2_ENST00000399380.3_Splice_Site	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)						adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCATTTCATACCTAATATTTT	0.358																																																	0													143	127	133					18																	25570060		2203	4300	6503	SO:0001630	splice_region_variant	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1598+1G>T	18.37:g.25570060C>A			A8MWK3|B0YIY6|Q14923|Q8N173	Splice_Site	SNP	-	e10+1	ENST00000269141.3	37	c.1598+1	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638087	0.87760	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4702	0.99162	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH2	23824058	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.319000	0.79040	2.937000	0.99478	0.650000	0.86243	.	CDH2	-	-	ENSG00000170558		0.358	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0	94	0	C	NM_001792	Intron	25570060	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	splice_site	31.58	26	12	SNP	1.000	A	A	25570060	C	A	25570060	5	1	73	1	0	0	0	0	0	0	1	0	3112	521	18	3	1149	3	CDH2	18	25570060	Splice_Site	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	18610581	25570060	52507188	177	19616											
CDH2	1000	genome.wustl.edu	37	chr18	25570148	25570148	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcccttcttcttggcgaAtgatcttaggattgggggca	8	12	13	8	1	3	1	0	1	3	0	3	4	3	2	1	4	1	1	1	4	3	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:25570148A>T	ENST00000269141.3	-	10	1934	c.1511T>A	c.(1510-1512)aTt>aAt	p.I504N	CDH2_ENST00000399380.3_Missense_Mutation_p.I473N	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	504	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCTTGGCGAATGATCTTAGG	0.453																																																	0													154	139	144					18																	25570148		2203	4300	6503	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1511T>A	18.37:g.25570148A>T	ENSP00000269141:p.Ile504Asn		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.I504N	ENST00000269141.3	37	c.1511	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761072	0.89932	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.55760	0.5;0.5	6.16	6.16	0.99307	Cadherin (3);Cadherin-like (1);	0.104722	0.64402	D	0.000004	T	0.74045	0.3665	M	0.92555	3.32	0.58432	D	0.999999	P;P	0.52842	0.815;0.956	P;P	0.52881	0.561;0.712	T	0.81315	-0.0988	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	473;504	A8MWK3;P19022	.;CADH2_HUMAN	N	504;473	ENSP00000269141:I504N;ENSP00000382312:I473N	ENSP00000269141:I504N	I	-	2	0	CDH2	23824146	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ATT	CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000170558		0.453	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0	128	0	A	NM_001792		25570148	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	41.79	39	28	SNP	1.000	T	T	25570148	A	T	25570148	3	4	73	1	0	0	0	0	1	0	0	0	3112	101	4	5	1237	5	CDH2	18	25570148	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	88	25570148	52507100	178	19617											
SOCS6	9306	genome.wustl.edu	37	chr18	67992659	67992659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcccatggaagtctctgCggttcctcctcaagtgggag	6	12	11	12	1	3	0	1	0	2	0	7	2	5	2	3	3	1	1	3	3	2	2	rs374835963		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr18:67992659C>A	ENST00000397942.3	+	2	1071	c.755C>A	c.(754-756)gCg>gAg	p.A252E	SOCS6_ENST00000582322.1_Missense_Mutation_p.A252E	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	252					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)		p.A252V(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAAGTCTCTGCGGTTCCTCCT	0.537																																					Melanoma(84;1024 1361 24382 36583 42651)												1	Substitution - Missense(1)	large_intestine(1)											93	77	82					18																	67992659		2203	4300	6503	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.755C>A	18.37:g.67992659C>A	ENSP00000381034:p.Ala252Glu		Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.A252E	ENST00000397942.3	37	c.755	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270073	0.40194	.	.	ENSG00000170677	ENST00000397942	T	0.26373	1.74	5.25	5.25	0.73442	.	0.739566	0.12917	N	0.428480	T	0.21145	0.0509	N	0.14661	0.345	0.38201	D	0.94018	B	0.20887	0.049	B	0.20384	0.029	T	0.13980	-1.0489	10	0.66056	D	0.02	-12.8814	18.8773	0.92343	0.0:1.0:0.0:0.0	.	252	O14544	SOCS6_HUMAN	E	252	ENSP00000381034:A252E	ENSP00000381034:A252E	A	+	2	0	SOCS6	66143639	0.903000	0.30736	0.438000	0.26821	0.506000	0.33950	5.655000	0.67981	2.441000	0.82636	0.655000	0.94253	GCG	SOCS6	-	NULL	ENSG00000170677		0.537	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2		0	49	0	C			67992659	1			no_errors	ENST00000397942	ensembl	human	known	74_37	missense	6.90	26	2	SNP	0.916	A	A	67992659	C	A	67992659	3	1	73	1	0	0	0	0	1	0	0	0	14963	768	27	2	757	2	SOCS6	18	67992659	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	42422511	67992659	10084589	179	19618											
STAP2	55620	genome.wustl.edu	37	chr19	4333712	4333712	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacttgatctcctgatcCcggagaatcaggctgaagtg	10	11	11	9	1	2	5	1	4	1	1	4	6	3	5	2	2	1	1	2	2	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:4333712C>A	ENST00000594605.1	-	3	399	c.276G>T	c.(274-276)cgG>cgT	p.R92R	STAP2_ENST00000600324.1_Silent_p.R92R	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	92	PH.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCTGATCCCGGAGAATCA	0.547																																																	0													71	66	68					19																	4333712		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.276G>T	19.37:g.4333712C>A			A6NKK3|Q9NXI2	Silent	SNP	pfscan_SH2	p.R92	ENST00000594605.1	37	c.276	CCDS45926.1	19																																																																																			STAP2	-	NULL	ENSG00000178078		0.547	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2		0	66	0	C	NM_001013841		4333712	-1			no_errors	ENST00000600324	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.000	A	A	4333712	C	A	4333712	2	1	73	1	0	0	0	0	0	0	0	1	15300	610	22	3		3	STAP2	19	4333712	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		4333712	54795271	180	19619											
FBN3	84467	genome.wustl.edu	37	chr19	8156451	8156451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaaagaggcagaggttggGctcctctgagcactcgtcga	9	7	14	11	2	1	3	0	1	1	2	4	4	2	3	2	3	1	4	2	3	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:8156451G>A	ENST00000600128.1	-	48	6343	c.5929C>T	c.(5929-5931)Ccc>Tcc	p.P1977S	FBN3_ENST00000601739.1_Missense_Mutation_p.P1977S|FBN3_ENST00000270509.2_Missense_Mutation_p.P1977S			Q75N90	FBN3_HUMAN	fibrillin 3	1977	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P1977S(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGTTGGGCTCCTCTGAG	0.592																																																	1	Substitution - Missense(1)	lung(1)											108	94	98					19																	8156451		2203	4300	6503	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5929C>T	19.37:g.8156451G>A	ENSP00000470498:p.Pro1977Ser		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.P1977S	ENST00000600128.1	37	c.5929	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542663	0.45280	.	.	ENSG00000142449	ENST00000270509	D	0.91686	-2.89	4.45	4.45	0.53987	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.061993	0.64402	U	0.000003	D	0.93517	0.7931	L	0.33668	1.02	0.53005	D	0.999966	D	0.89917	1.0	D	0.91635	0.999	D	0.94069	0.7333	10	0.51188	T	0.08	.	17.0618	0.86549	0.0:0.0:1.0:0.0	.	1977	Q75N90	FBN3_HUMAN	S	1977	ENSP00000270509:P1977S	ENSP00000270509:P1977S	P	-	1	0	FBN3	8062451	1.000000	0.71417	0.751000	0.31187	0.119000	0.20118	4.963000	0.63694	2.015000	0.59207	0.655000	0.94253	CCC	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.592	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2		0	71	0	G	NM_032447		8156451	-1			no_errors	ENST00000270509	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	A	A	8156451	G	A	8156451	3	1	73	1	0	0	0	0	1	0	0	0	5726	1203	42	3	2568	3	FBN3	19	8156451	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	3822739	8156451	50972532	181	19620											
ZNF562	54811	genome.wustl.edu	37	chr19	9763683	9763683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgggaagaagtaatgaagGtcttcccacattcaacacat	15	9	9	8	0	2	2	1	1	1	1	3	4	3	3	1	2	1	1	1	2	5	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:9763683G>C	ENST00000448622.1	-	6	1385	c.1223C>G	c.(1222-1224)aCc>aGc	p.T408S	ZNF562_ENST00000453372.2_Missense_Mutation_p.T408S|ZNF562_ENST00000590155.1_Missense_Mutation_p.T407S|ZNF562_ENST00000293648.4_Missense_Mutation_p.T336S|ZNF562_ENST00000541032.1_Missense_Mutation_p.T371S|ZNF562_ENST00000453792.2_Missense_Mutation_p.T339S|ZNF562_ENST00000537617.1_Missense_Mutation_p.T292S	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTAATGAAGGTCTTCCCACA	0.393																																																	0													104	96	99					19																	9763683		2203	4300	6503	SO:0001583	missense	0			AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"Zinc fingers, C2H2-type", "-"	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.1223C>G	19.37:g.9763683G>C	ENSP00000411784:p.Thr408Ser		Q32MN2|Q9NXS5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T408S	ENST00000448622.1	37	c.1223	CCDS45956.1	19	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488041	0.26686	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648;ENST00000541032;ENST00000453792;ENST00000537617	T;T;T;T;T;T	0.01178	5.22;5.22;5.22;5.22;5.22;5.22	1.67	0.551	0.17225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01287	0.0042	N	0.01624	-0.795	0.09310	N	1	D;D;P;P;P	0.57257	0.974;0.979;0.889;0.889;0.865	D;D;P;B;B	0.71414	0.953;0.973;0.479;0.424;0.298	T	0.58070	-0.7701	9	0.49607	T	0.09	.	7.3791	0.26845	0.0:0.5444:0.4556:0.0	.	292;407;371;408;336	F5H1B4;B4DMG0;B4DZP9;Q6V9R5;Q6V9R5-2	.;.;.;ZN562_HUMAN;.	S	408;408;336;371;339;292	ENSP00000410734:T408S;ENSP00000411784:T408S;ENSP00000293648:T336S;ENSP00000442614:T371S;ENSP00000440451:T339S;ENSP00000445816:T292S	ENSP00000293648:T336S	T	-	2	0	ZNF562	9624683	0.000000	0.05858	0.039000	0.18376	0.051000	0.14879	0.231000	0.17872	0.241000	0.21283	0.313000	0.20887	ACC	ZNF562	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171466		0.393	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF562	HGNC	protein_coding	OTTHUMT00000450239.1	-	0	101	0	G	NM_017656		9763683	-1	tier1	-	no_errors	ENST00000448622	ensembl	human	known	74_37	missense	60.87	18	28	SNP	0.081	C	C	9763683	G	C	9763683	3	2	73	1	0	0	0	0	1	0	0	0	18041	1261	44	5	61	5	ZNF562	19	9763683	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1607232	9763683	49365300	182	19621											
SLC1A6	6511	genome.wustl.edu	37	chr19	15061158	15061158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agtgctcgatgacggccgctCcaattgagtcccccagtacg	8	8	11	14	4	0	2	0	2	0	0	3	3	2	2	4	1	2	3	4	1	2	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:15061158C>G	ENST00000221742.3	-	9	1551	c.1544G>C	c.(1543-1545)gGa>gCa	p.G515A	SLC1A6_ENST00000430939.2_Missense_Mutation_p.G451A|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G437A	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	515					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GACGGCCGCTCCAATTGAGTC	0.562																																																	0													61	57	58					19																	15061158		2203	4300	6503	SO:0001583	missense	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1544G>C	19.37:g.15061158C>G	ENSP00000221742:p.Gly515Ala		Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.G515A	ENST00000221742.3	37	c.1544	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	c	14.55	2.569549	0.45798	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.59906	0.23;0.44	5.43	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	L	0.39633	1.23	0.80722	D	1	D;D	0.65815	0.995;0.977	D;P	0.63488	0.915;0.669	T	0.60835	-0.7184	10	0.32370	T	0.25	-10.9333	13.2559	0.60079	0.0:0.6952:0.3048:0.0	.	451;515	E7EV13;P48664	.;EAA4_HUMAN	A	451;515	ENSP00000409386:G451A;ENSP00000221742:G515A	ENSP00000221742:G515A	G	-	2	0	SLC1A6	14922158	1.000000	0.71417	0.838000	0.33150	0.291000	0.27294	5.839000	0.69395	1.264000	0.44198	0.544000	0.68410	GGA	SLC1A6	-	pfam_Na-dicarboxylate_symporter	ENSG00000105143		0.562	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	-	0	43	0	C	NM_005071		15061158	-1	tier1	-	no_errors	ENST00000221742	ensembl	human	known	74_37	missense	10.67	134	16	SNP	0.997	G	G	15061158	C	G	15061158	3	3	73	1	0	0	0	0	1	0	0	0	14481	855	30	5	154	5	SLC1A6	19	15061158	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	5297475	15061158	44067825	183	19622											
JAK3	3718	genome.wustl.edu	37	chr19	17942130	17942130	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtcagcgatcttgacgTgtgcctcgctctccacgagg	7	9	12	13	5	3	1	1	1	2	0	5	4	3	1	2	1	2	1	2	1	1	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:17942130T>A	ENST00000527670.1	-	20	2914	c.2885A>T	c.(2884-2886)cAc>cTc	p.H962L	JAK3_ENST00000534444.1_Missense_Mutation_p.H962L|JAK3_ENST00000458235.1_Missense_Mutation_p.H962L			P52333	JAK3_HUMAN	Janus kinase 3	962	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GATCTTGACGTGTGCCTCGCT	0.657		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0													135	118	124					19																	17942130		2203	4300	6503	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2885A>T	19.37:g.17942130T>A	ENSP00000432511:p.His962Leu		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H962L	ENST00000527670.1	37	c.2885	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	8.667	0.901838	0.17760	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.88741	0.08;0.08;-2.42	3.28	3.28	0.37604	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.241243	0.30142	N	0.010320	T	0.76343	0.3974	N	0.20401	0.57	0.51012	D	0.999909	B;B	0.16603	0.018;0.014	B;B	0.17722	0.018;0.019	T	0.67074	-0.5762	10	0.02654	T	1	-27.4738	10.2413	0.43314	0.0:0.0:0.0:1.0	.	962;962	P52333-2;P52333	.;JAK3_HUMAN	L	962	ENSP00000391676:H962L;ENSP00000432511:H962L;ENSP00000436421:H962L	ENSP00000391676:H962L	H	-	2	0	JAK3	17803130	0.224000	0.23674	0.997000	0.53966	0.931000	0.56810	0.784000	0.26816	1.469000	0.48083	0.379000	0.24179	CAC	JAK3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105639		0.657	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	HGNC	protein_coding	OTTHUMT00000385549.1	-	0	133	0	T	NM_000215		17942130	-1	tier1	-	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	32.10	55	26	SNP	0.996	A	A	17942130	T	A	17942130	3	1	73	1	0	0	0	0	1	0	0	0	7966	1696	59	5	505	5	JAK3	19	17942130	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	2880972	17942130	41186853	184	19623											
GGN	199720	genome.wustl.edu	37	chr19	38877401	38877401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggcttccaagtctccagGggcggcggaaattgggatgg	7	7	18	9	3	1	0	0	0	1	0	3	2	2	2	2	8	0	1	2	8	2	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:38877401G>A	ENST00000334928.6	-	3	633	c.501C>T	c.(499-501)ccC>ccT	p.P167P	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank|SPRED3_ENST00000586301.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	167	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.			PP -> AH (in Ref. 1; AAP31500/AAP31501). {ECO:0000305}.	cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGTCTCCAGGGGCGGCGGAA	0.692																																																	0													14	18	16					19																	38877401		2178	4269	6447	SO:0001819	synonymous_variant	0			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.501C>T	19.37:g.38877401G>A			Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	NULL	p.P167	ENST00000334928.6	37	c.501	CCDS12516.1	19																																																																																			GGN	-	NULL	ENSG00000179168		0.692	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	-	0	16	0	G	NM_152657		38877401	-1	tier1	-	no_errors	ENST00000334928	ensembl	human	known	74_37	silent	42.86	8	6	SNP	0.002	A	A	38877401	G	A	38877401	2	1	73	1	0	0	0	0	0	0	0	1	6384	1219	43	3		3	GGN	19	38877401	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	20935271	38877401	20251582	185	19624											
SHKBP1	92799	genome.wustl.edu	37	chr19	41096671	41096671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagagctgatggaacagCtggaacactgtgagctggcc	12	6	14	9	0	0	3	0	2	0	1	0	5	0	5	1	3	6	4	1	3	3	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:41096671C>A	ENST00000291842.5	+	17	1853	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	SHKBP1_ENST00000600733.1_Missense_Mutation_p.L577M|LTBP4_ENST00000204005.9_5'Flank|LTBP4_ENST00000545697.1_5'Flank	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	602					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GATGGAACAGCTGGAACACTG	0.657																																																	0													58	68	65					19																	41096671		2203	4300	6503	SO:0001583	missense	0			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"WD repeat domain containing"	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1804C>A	19.37:g.41096671C>A	ENSP00000291842:p.Leu602Met		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.L602M	ENST00000291842.5	37	c.1804	CCDS12560.1	19	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071593	0.36566	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.47528	0.84	5.01	3.97	0.46021	.	0.228496	0.29321	N	0.012499	T	0.63522	0.2518	M	0.69523	2.12	0.49299	D	0.999778	D;D;P;D;P	0.89917	1.0;1.0;0.886;0.999;0.612	D;D;B;D;B	0.97110	1.0;0.998;0.2;0.996;0.058	T	0.65269	-0.6209	10	0.87932	D	0	-11.7083	7.9231	0.29859	0.0:0.8115:0.0:0.1885	.	480;382;439;602;602	B4DLI0;B4DUW2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;SHKB1_HUMAN	M	602;382	ENSP00000291842:L602M	ENSP00000291842:L602M	L	+	1	2	SHKBP1	45788511	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	1.914000	0.39966	1.256000	0.44068	0.561000	0.74099	CTG	SHKBP1	-	NULL	ENSG00000160410		0.657	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	-	0	79	0	C	NM_138392		41096671	1	tier1	-	no_errors	ENST00000291842	ensembl	human	known	74_37	missense	27.59	42	16	SNP	1.000	A	A	41096671	C	A	41096671	3	1	73	1	0	0	0	0	1	0	0	0	14329	796	28	3	1870	3	SHKBP1	19	41096671	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	2219270	41096671	18032312	186	19625											
AXL	558	genome.wustl.edu	37	chr19	41754709	41754709	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccatcctcaaggtggcTgtgaagacgatgaagagtga	12	8	13	8	1	1	5	1	3	0	2	3	7	3	5	2	2	0	1	2	2	3	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:41754709T>C	ENST00000301178.4	+	14	1885	c.1695T>C	c.(1693-1695)gcT>gcC	p.A565A	AXL_ENST00000593513.1_Silent_p.A297A|AXL_ENST00000359092.3_Silent_p.A556A	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	565	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TCAAGGTGGCTGTGAAGACGA	0.567																																																	0													106	95	99					19																	41754709		2203	4300	6503	SO:0001819	synonymous_variant	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1695T>C	19.37:g.41754709T>C			Q8N5L2|Q9UD27	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A565	ENST00000301178.4	37	c.1695	CCDS12575.1	19																																																																																			AXL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167601		0.567	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	-	0	56	0	T			41754709	1	tier1	-	no_errors	ENST00000301178	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.987	C	C	41754709	T	C	41754709	2	2	73	1	0	0	0	0	0	0	0	1	1239	1567	55	4		4	AXL	19	41754709	Silent	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	658038	41754709	17374274	187	19626											
SYMPK	8189	genome.wustl.edu	37	chr19	46330851	46330851	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcttgaagatcaggtctcGaagtgtggacatgcccagat	10	9	13	9	2	2	3	1	1	1	2	3	5	2	4	1	2	1	1	1	2	2	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:46330851G>A	ENST00000245934.7	-	16	2342	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	700					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCAGGTCTCGAAGTGTGGAC	0.592																																																	0													119	88	98					19																	46330851		2203	4300	6503	SO:0001587	stop_gained	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2098C>T	19.37:g.46330851G>A	ENSP00000245934:p.Arg700*		O00521|O00689|O00733|Q59GT5|Q8N2U5	Nonsense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.R700*	ENST00000245934.7	37	c.2098	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	41	8.918694	0.99002	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.04	3.98	0.46160	.	0.139524	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.9587	0.58444	0.0:0.1706:0.8294:0.0	.	.	.	.	X	700	.	ENSP00000245934:R700X	R	-	1	2	SYMPK	51022691	1.000000	0.71417	0.752000	0.31206	0.985000	0.73830	3.564000	0.53791	1.336000	0.45506	0.650000	0.86243	CGA	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.592	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	-	0	88	0	G	NM_004819		46330851	-1	tier1	-	no_errors	ENST00000245934	ensembl	human	known	74_37	nonsense	31.25	55	25	SNP	0.961	A	A	46330851	G	A	46330851	4	1	73	1	0	0	0	0	0	1	0	0	15486	1066	37	1	1774	1	SYMPK	19	46330851	Nonsense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	4576142	46330851	12798132	188	19627											
TULP2	7288	genome.wustl.edu	37	chr19	49388731	49388731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccacgaaattgtccccGtcccgagataggtgtgtagg	8	10	12	11	3	0	1	0	0	0	1	2	3	2	1	4	2	1	1	4	2	3	4	rs377635669		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:49388731G>A	ENST00000221399.3	-	9	1179	c.1035C>T	c.(1033-1035)gaC>gaT	p.D345D		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	345					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AATTGTCCCCGTCCCGAGATA	0.547																																																	0								G		0,4406		0,0,2203	198	161	173		1035	0.3	0.7	19		173	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TULP2	NM_003323.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		345/521	49388731	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1035C>T	19.37:g.49388731G>A			Q8TC50	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.D345	ENST00000221399.3	37	c.1035	CCDS12739.1	19																																																																																			TULP2	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	ENSG00000104804		0.547	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	-	0	84	0	G	NM_003323		49388731	-1	tier1	-	no_errors	ENST00000221399	ensembl	human	known	74_37	silent	19.64	45	11	SNP	0.983	A	A	49388731	G	A	49388731	2	1	73	1	0	0	0	0	0	0	0	1	16823	1136	40	1		1	TULP2	19	49388731	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	3057880	49388731	9740252	189	19628											
LRRC4B	94030	genome.wustl.edu	37	chr19	51021013	51021013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggtctcgctccagggcggGcagggccaggtggctgtccc	3	7	18	13	2	1	0	0	0	1	0	4	0	3	0	3	6	0	3	3	6	0	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:51021013G>A	ENST00000599957.1	-	3	2154	c.1957C>T	c.(1957-1959)Ccc>Tcc	p.P653S	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P653S			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	653					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCCAGGGCGGGCAGGGCCAGG	0.751																																																	0													29	32	31					19																	51021013		1960	4134	6094	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1957C>T	19.37:g.51021013G>A	ENSP00000471502:p.Pro653Ser		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P653S	ENST00000599957.1	37	c.1957	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356041	0.61293	.	.	ENSG00000131409	ENST00000389201	T	0.36340	1.26	2.62	2.62	0.31277	.	0.000000	0.64402	U	0.000011	T	0.51500	0.1678	L	0.59436	1.845	0.50813	D	0.999899	D	0.60575	0.988	D	0.70016	0.967	T	0.54735	-0.8249	10	0.66056	D	0.02	.	10.9802	0.47490	0.0:0.0:1.0:0.0	.	653	Q9NT99	LRC4B_HUMAN	S	653	ENSP00000373853:P653S	ENSP00000373853:P653S	P	-	1	0	LRRC4B	55712825	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.162000	0.94745	1.470000	0.48102	0.462000	0.41574	CCC	LRRC4B	-	NULL	ENSG00000131409		0.751	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0	33	0	G	NM_001080457		51021013	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	51021013	G	A	51021013	3	1	73	1	0	0	0	0	1	0	0	0	9042	1203	42	3	188	3	LRRC4B	19	51021013	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1632282	51021013	8107970	190	19629											
HAS1	3036	genome.wustl.edu	37	chr19	52222715	52222715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtcagcgaagacctcgCggaacatgtcgaccatgtag	10	7	11	13	5	1	1	1	0	0	1	4	4	1	2	3	1	2	1	3	1	3	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:52222715C>T	ENST00000222115.1	-	2	480	c.446G>A	c.(445-447)cGc>cAc	p.R149H	HAS1_ENST00000540069.2_Missense_Mutation_p.R148H|HAS1_ENST00000601714.1_Missense_Mutation_p.R156H|HAS1_ENST00000594621.1_Missense_Mutation_p.R3H	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	149					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAAGACCTCGCGGAACATGTC	0.731																																					NSCLC(132;636 2450 45807 47979)												0													11	10	10					19																	52222715		2083	4020	6103	SO:0001583	missense	0			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.446G>A	19.37:g.52222715C>T	ENSP00000222115:p.Arg149His		Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.R156H	ENST00000222115.1	37	c.467	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026831	0.35797	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.59772	0.24;0.24	3.83	2.75	0.32379	.	0.228496	0.32518	N	0.005993	T	0.36468	0.0968	N	0.25890	0.77	0.41466	D	0.988078	B;B;B	0.28820	0.224;0.144;0.144	B;B;B	0.18871	0.023;0.01;0.01	T	0.24440	-1.0160	10	0.34782	T	0.22	-5.4726	6.6845	0.23138	0.0:0.7674:0.0:0.2326	.	148;149;148	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	148;149;3;3	ENSP00000445021:R148H;ENSP00000222115:R149H	ENSP00000222115:R149H	R	-	2	0	HAS1	56914527	0.001000	0.12720	1.000000	0.80357	0.957000	0.61999	0.027000	0.13621	1.832000	0.53329	0.423000	0.28283	CGC	HAS1	-	NULL	ENSG00000105509		0.731	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	-	0	66	0	C	NM_001523		52222715	-1	tier1	-	no_errors	ENST00000601714	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.997	T	T	52222715	C	T	52222715	3	4	73	1	0	0	0	0	1	0	0	0	6988	768	27	1	1306	1	HAS1	19	52222715	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1201702	52222715	6906268	191	19630											
MYADM	91663	genome.wustl.edu	37	chr19	54377589	54377589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcgatgagaagtatggcgGccagcctcggcgctcgagag	8	7	16	10	5	0	2	0	1	0	2	3	5	0	2	2	3	1	3	2	3	2	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:54377589G>A	ENST00000391769.2	+	3	1086	c.806G>A	c.(805-807)gGc>gAc	p.G269D	MYADM_ENST00000391770.4_Missense_Mutation_p.G269D|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_Missense_Mutation_p.G269D|MYADM_ENST00000391768.2_Missense_Mutation_p.G269D|MYADM_ENST00000336967.3_Missense_Mutation_p.G269D	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	269	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AAGTATGGCGGCCAGCCTCGG	0.632																																																	0													57	52	54					19																	54377589		2203	4300	6503	SO:0001583	missense	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.806G>A	19.37:g.54377589G>A	ENSP00000375649:p.Gly269Asp		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	pfam_Marvel	p.G269D	ENST00000391769.2	37	c.806	CCDS12866.1	19	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793406	0.90453	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	.	.	.	4.3	4.3	0.51218	Marvel (1);MARVEL-like domain (1);	0.213333	0.37906	N	0.001895	T	0.75796	0.3898	M	0.81497	2.545	0.58432	D	0.999995	D	0.58268	0.982	P	0.57620	0.824	T	0.80921	-0.1166	9	0.87932	D	0	-23.9803	14.6581	0.68850	0.0:0.0:1.0:0.0	.	269	Q96S97	MYADM_HUMAN	D	269;269;269;232;269;269	.	ENSP00000337222:G269D	G	+	2	0	MYADM	59069401	0.991000	0.36638	0.026000	0.17262	0.463000	0.32649	2.053000	0.41326	2.133000	0.65898	0.305000	0.20034	GGC	MYADM	-	pfam_Marvel	ENSG00000179820		0.632	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1		0	54	0	G	NM_138373		54377589	1			no_errors	ENST00000336967	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.771	A	A	54377589	G	A	54377589	3	1	73	1	0	0	0	0	1	0	0	0	10044	1203	42	3	808	3	MYADM	19	54377589	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	2154874	54377589	4751394	192	19631											
ZNF417	147687	genome.wustl.edu	37	chr19	58420048	58420048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgtgtttaatgagactgGaacattcagcaaaggatttt	12	14	9	6	0	1	1	1	1	0	1	2	4	2	3	1	2	2	2	1	2	3	5			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr19:58420048G>A	ENST00000312026.5	-	3	1762	c.1598C>T	c.(1597-1599)tCc>tTc	p.S533F	ZNF417_ENST00000595559.1_Missense_Mutation_p.S532F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.S334F	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AATGAGACTGGAACATTCAGC	0.398																																																	0													120	115	117					19																	58420048		2203	4300	6503	SO:0001583	missense	0			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"Zinc fingers, C2H2-type", "-"	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1598C>T	19.37:g.58420048G>A	ENSP00000311319:p.Ser533Phe		B4DEU1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S533F	ENST00000312026.5	37	c.1598	CCDS12965.1	19	.	.	.	.	.	.	.	.	.	.	.	14.20	2.464729	0.43736	.	.	ENSG00000173480	ENST00000312026;ENST00000536263	T;T	0.01745	4.66;4.66	2.52	-0.11	0.13580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03959	0.0111	M	0.89840	3.065	0.09310	N	1	B;B	0.27229	0.172;0.107	B;B	0.20955	0.032;0.014	T	0.19516	-1.0303	9	0.62326	D	0.03	.	6.5701	0.22533	0.1248:0.1834:0.6919:0.0	.	533;533	F5H0M9;Q8TAU3	.;ZN417_HUMAN	F	533;334	ENSP00000311319:S533F;ENSP00000442760:S334F	ENSP00000311319:S533F	S	-	2	0	ZNF417	63111860	0.000000	0.05858	0.001000	0.08648	0.508000	0.34012	-0.036000	0.12185	0.385000	0.24970	0.306000	0.20318	TCC	ZNF417	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173480		0.398	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF417	HGNC	protein_coding	OTTHUMT00000466860.1	-	0	135	0	G	NM_152475		58420048	-1	tier1	-	no_errors	ENST00000312026	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.000	A	A	58420048	G	A	58420048	3	1	73	1	0	0	0	0	1	0	0	0	17942	1174	41	3	133	3	ZNF417	19	58420048	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	4042459	58420048	708935	193	19632											
KIF16B	55614	genome.wustl.edu	37	chr20	16360078	16360078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactctaggatctcctgttCttcttggacttcttttttca	6	19	5	11	0	6	0	1	0	5	0	7	2	6	2	1	2	0	1	1	2	1	8			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:16360078C>T	ENST00000354981.2	-	19	2726	c.2569G>A	c.(2569-2571)Gaa>Aaa	p.E857K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E83K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E857K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E857K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	857	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCTCCTGTTCTTCTTGGACT	0.418																																																	0													146	142	144					20																	16360078		2203	4300	6503	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"Kinesins"	15869	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 23"	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2569G>A	20.37:g.16360078C>T	ENSP00000347076:p.Glu857Lys		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E857K	ENST00000354981.2	37	c.2569	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970502	0.53614	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.17691	2.26;2.26;2.26;2.26	5.6	5.6	0.85130	.	0.101220	0.64402	D	0.000003	T	0.27697	0.0681	L	0.53249	1.67	0.54753	D	0.999987	P;P;P;P	0.50943	0.787;0.94;0.825;0.732	B;P;P;B	0.49708	0.359;0.62;0.461;0.254	T	0.00704	-1.1602	10	0.23302	T	0.38	.	19.1957	0.93689	0.0:1.0:0.0:0.0	.	857;857;857;857	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	857;857;701;83;857	ENSP00000347076:E857K;ENSP00000347995:E857K;ENSP00000367242:E83K;ENSP00000384164:E857K	ENSP00000347076:E857K	E	-	1	0	KIF16B	16308078	1.000000	0.71417	0.215000	0.23724	0.005000	0.04900	7.322000	0.79097	2.645000	0.89757	0.650000	0.86243	GAA	KIF16B	-	NULL	ENSG00000089177		0.418	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	-	0	62	0	C	NM_017683		16360078	-1	tier1	-	no_errors	ENST00000408042	ensembl	human	known	74_37	missense	28.89	32	13	SNP	0.997	T	T	16360078	C	T	16360078	3	4	73	1	0	0	0	0	1	0	0	0	8305	922	32	3	1416	3	KIF16B	20	16360078	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		16360078	46665442	194	19633											
NAPB	63908	genome.wustl.edu	37	chr20	23383645	23383645	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cataccactccaatttttagCcatcttgaacatatttgcag	12	14	4	11	0	1	1	0	1	1	0	2	1	2	1	3	0	4	1	3	0	5	7			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:23383645C>G	ENST00000377026.4	-	2	248	c.163G>C	c.(163-165)Gct>Cct	p.A55P	NAPB_ENST00000432543.2_Missense_Mutation_p.A55P|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_5'UTR	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	55					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CAATTTTTAGCCATCTTGAAC	0.333																																																	0													114	104	107					20																	23383645		2202	4299	6501	SO:0001583	missense	0			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.163G>C	20.37:g.23383645C>G	ENSP00000366225:p.Ala55Pro		B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	prints_NSF_attach	p.A55P	ENST00000377026.4	37	c.163	CCDS13152.1	20	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669017	0.88348	.	.	ENSG00000125814	ENST00000377026;ENST00000432543;ENST00000431864	T;T	0.77750	1.39;-1.12	5.95	5.01	0.66863	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90830	0.7120	H	0.96048	3.76	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.977	P;P;P	0.62885	0.908;0.888;0.908	D	0.93454	0.6804	10	0.87932	D	0	-8.4479	14.2355	0.65925	0.0:0.9289:0.0:0.0711	.	55;55;55	B4DK44;B4DIV0;Q9H115	.;.;SNAB_HUMAN	P	55;55;12	ENSP00000366225:A55P;ENSP00000413600:A55P	ENSP00000366225:A55P	A	-	1	0	NAPB	23331645	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.645000	0.83430	1.532000	0.49169	0.655000	0.94253	GCT	NAPB	-	prints_NSF_attach	ENSG00000125814		0.333	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	-	0	88	0	C	NM_022080		23383645	-1	tier1	-	no_errors	ENST00000377026	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	G	G	23383645	C	G	23383645	3	3	73	1	0	0	0	0	1	0	0	0	10200	739	26	5	773	5	NAPB	20	23383645	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	7023567	23383645	39641875	195	19634											
SLC12A5	57468	genome.wustl.edu	37	chr20	44681697	44681697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttctctgagggcagcatcGacgtttggtggattgtgcac	6	12	14	9	2	1	1	0	1	1	0	3	3	1	2	0	3	2	5	0	3	0	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:44681697G>A	ENST00000454036.2	+	19	2597	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D827N	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	850					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCAGCATCGACGTTTGGTG	0.582																																																	0													188	129	149					20																	44681697		2203	4300	6503	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2548G>A	20.37:g.44681697G>A	ENSP00000387694:p.Asp850Asn		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D850N	ENST00000454036.2	37	c.2548	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966059	0.92855	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.95724	-3.79;-3.79	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.98327	0.9445	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.979;1.0	D	0.99632	1.0986	10	0.87932	D	0	.	16.3478	0.83151	0.0:0.0:1.0:0.0	.	850;827	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	N	850;827	ENSP00000387694:D850N;ENSP00000243964:D827N	ENSP00000243964:D827N	D	+	1	0	SLC12A5	44115104	1.000000	0.71417	0.993000	0.49108	0.815000	0.46073	9.596000	0.98267	2.313000	0.78055	0.561000	0.74099	GAC	SLC12A5	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	46	0	G			44681697	1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	A	A	44681697	G	A	44681697	3	1	73	1	0	0	0	0	1	0	0	0	14431	1058	37	1	2678	1	SLC12A5	20	44681697	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	21298052	44681697	18343823	196	19635											
LAMA5	3911	genome.wustl.edu	37	chr20	60912701	60912701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgtcacaccgcagcccCgtcacacggggccggcagct	7	5	12	17	4	2	0	2	0	0	0	2	0	2	0	4	3	2	3	4	3	0	0	rs143941434	byFrequency	TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:60912701C>T	ENST00000252999.3	-	16	2175	c.2109G>A	c.(2107-2109)acG>acA	p.T703T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	703	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACCGCAGCCCCGTCACACGGG	0.662																																																	0								C		0,4398		0,0,2199	36	33	34		2109	-9.8	0	20	dbSNP_134	34	6,8588	3.7+/-12.6	0,6,4291	no	coding-synonymous	LAMA5	NM_005560.3		0,6,6490	TT,TC,CC		0.0698,0.0,0.0462		703/3696	60912701	6,12986	2199	4297	6496	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2109G>A	20.37:g.60912701C>T			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T703	ENST00000252999.3	37	c.2109	CCDS33502.1	20																																																																																			LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	ENSG00000130702		0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	51	0	C	NM_005560		60912701	-1	tier1	rs143941434	no_errors	ENST00000252999	ensembl	human	known	74_37	silent	16.44	61	12	SNP	0.000	T	T	60912701	C	T	60912701	2	4	73	1	0	0	0	0	0	0	0	1	8637	639	23	1		1	LAMA5	20	60912701	Silent	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	16231004	60912701	2112819	197	19636											
COL20A1	57642	genome.wustl.edu	37	chr20	61926504	61926504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctctgcctctggctGtggctgggcgccaccctggg	1	9	15	16	2	2	0	0	0	2	0	3	0	2	0	4	5	1	2	4	5	0	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr20:61926504G>A	ENST00000358894.6	+	2	145	c.45G>A	c.(43-45)ctG>ctA	p.L15L	COL20A1_ENST00000326996.6_Silent_p.L15L|COL20A1_ENST00000435874.1_Silent_p.L15L|COL20A1_ENST00000422202.1_Silent_p.L15L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	15					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCTCTGGCTGTGGCTGGGCG	0.682																																																	0													11	15	13					20																	61926504		1995	4088	6083	SO:0001819	synonymous_variant	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"Collagens", "Fibronectin type III domain containing"	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.45G>A	20.37:g.61926504G>A			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.L15	ENST00000358894.6	37	c.45	CCDS46628.1	20																																																																																			COL20A1	-	NULL	ENSG00000101203		0.682	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	-	0	158	0	G	NM_020882		61926504	1	tier1	-	no_errors	ENST00000326996	ensembl	human	known	74_37	silent	20.79	141	37	SNP	0.949	A	A	61926504	G	A	61926504	2	1	73	1	0	0	0	0	0	0	0	1	3686	1364	48	3		3	COL20A1	20	61926504	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	1013803	61926504	1099016	198	19637											
SON	6651	genome.wustl.edu	37	chr21	34927065	34927065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaagcgtaccagtgaatCtcgttctagggcaagaaaga	14	7	11	9	3	2	3	0	1	2	2	3	3	2	3	1	1	2	4	1	1	6	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr21:34927065C>A	ENST00000356577.4	+	3	6003	c.5528C>A	c.(5527-5529)tCt>tAt	p.S1843Y	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1843Y|SON_ENST00000290239.6_Missense_Mutation_p.S1843Y|SON_ENST00000300278.4_Missense_Mutation_p.S1843Y	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1843					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACCAGTGAATCTCGTTCTAGG	0.458																																																	0													88	88	88					21																	34927065		2203	4300	6503	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5528C>A	21.37:g.34927065C>A	ENSP00000348984:p.Ser1843Tyr		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom	p.S1843Y	ENST00000356577.4	37	c.5528	CCDS13629.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.67|15.67	2.901480|2.901480	0.52227|0.52227	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.69435	.|-0.4;-0.4;-0.4;2.1	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.50627	.|D	.|0.000118	T|T	0.69369|0.69369	0.3103|0.3103	N|N	0.08118|0.08118	0|0	0.53688|0.53688	D|D	0.999979|0.999979	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.996;0.999;0.998;0.998	T|T	0.77056|0.77056	-0.2729|-0.2729	5|10	.|0.87932	.|D	.|0	.|.	19.7329|19.7329	0.96190|0.96190	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1843;1843;1524;1843;1843	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	I|Y	838|1843	.|ENSP00000348984:S1843Y;ENSP00000290239:S1843Y;ENSP00000300278:S1843Y;ENSP00000371095:S1843Y	.|ENSP00000290239:S1843Y	L|S	+|+	1|2	0|0	SON|SON	33848935|33848935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.557000|4.557000	0.60782|0.60782	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	CTC|TCT	SON	-	NULL	ENSG00000159140		0.458	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	-	0	34	0	C	NM_138927		34927065	1	tier1	-	no_errors	ENST00000356577	ensembl	human	known	74_37	missense	63.16	14	24	SNP	1.000	A	A	34927065	C	A	34927065	3	1	73	1	0	0	0	0	1	0	0	0	14971	913	32	3	5538	3	SON	21	34927065	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09		34927065	13202830	199	19638											
PRDM15	63977	genome.wustl.edu	37	chr21	43274682	43274682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccacataccgtggacGccagagccggcctgcttcag	7	5	13	16	4	1	1	1	0	0	1	1	2	1	2	6	3	3	1	6	3	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr21:43274682G>A	ENST00000269844.3	-	12	1739	c.1629C>T	c.(1627-1629)ggC>ggT	p.G543G	PRDM15_ENST00000398548.1_Silent_p.G214G|PRDM15_ENST00000538201.1_Silent_p.G177G|PRDM15_ENST00000447207.2_Silent_p.G177G|PRDM15_ENST00000422911.1_Silent_p.G214G	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TACCGTGGACGCCAGAGCCGG	0.642																																																	0													44	47	46					21																	43274682		2203	4300	6503	SO:0001819	synonymous_variant	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1629C>T	21.37:g.43274682G>A			E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G543	ENST00000269844.3	37	c.1629	CCDS13676.1	21																																																																																			PRDM15	-	NULL	ENSG00000141956		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding			0	82	0	G	NM_022115		43274682	-1			no_errors	ENST00000269844	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.000	A	A	43274682	G	A	43274682	2	1	73	1	0	0	0	0	0	0	0	1	12498	1074	38	1		1	PRDM15	21	43274682	Silent	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	8347617	43274682	4855213	200	19639											
PI4KA	5297	genome.wustl.edu	37	chr22	21157593	21157593	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccgggaacctctcgcAcaggcggcccaaaccctgca	10	3	9	19	3	1	0	0	0	1	0	2	1	1	1	5	3	3	2	5	3	2	0			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:21157593A>T	ENST00000572273.1	-	13	1533	c.1303T>A	c.(1303-1305)Tgc>Agc	p.C435S	PI4KA_ENST00000255882.6_Missense_Mutation_p.C493S			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	435					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AACCTCTCGCACAGGCGGCCC	0.587																																					GBM(136;1332 1831 3115 23601 50806)												0													136	106	116					22																	21157593		2203	4300	6503	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.1303T>A	22.37:g.21157593A>T	ENSP00000458238:p.Cys435Ser		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.C493S	ENST00000572273.1	37	c.1477		22	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715576	0.68844	.	.	ENSG00000241973	ENST00000255882	T	0.32988	1.43	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	N	0.19112	0.55	0.80722	D	1	B;B	0.19935	0.04;0.039	B;B	0.22753	0.041;0.018	T	0.04467	-1.0949	10	0.28530	T	0.3	-17.7332	14.6457	0.68759	1.0:0.0:0.0:0.0	.	493;435	D3DX33;P42356	.;PI4KA_HUMAN	S	435	ENSP00000255882:C435S	ENSP00000255882:C435S	C	-	1	0	PI4KA	19487593	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.129000	0.94430	2.047000	0.60756	0.402000	0.26972	TGC	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.587	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	71	0	A	NM_058004		21157593	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	T	T	21157593	A	T	21157593	3	4	73	1	0	0	0	0	1	0	0	0	11912	159	6	5	5003	5	PI4KA	22	21157593	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09		21157593	30146973	201	19640											
CRYBB1	1414	genome.wustl.edu	37	chr22	27008099	27008099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgccagatttgagcacTcccccgagaattctgctcga	8	10	10	13	2	2	3	0	1	2	2	4	5	3	3	3	1	3	2	3	1	1	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:27008099T>C	ENST00000215939.2	-	3	366	c.236A>G	c.(235-237)gAg>gGg	p.E79G		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	79	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ATTTGAGCACTCCCCCGAGAA	0.627																																																	0													94	82	86					22																	27008099		2203	4300	6503	SO:0001583	missense	0				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.236A>G	22.37:g.27008099T>C	ENSP00000215939:p.Glu79Gly			Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E79G	ENST00000215939.2	37	c.236	CCDS13840.1	22	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580586	0.65992	.	.	ENSG00000100122	ENST00000215939	T	0.75477	-0.94	3.85	3.85	0.44370	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	M	0.85373	2.75	0.80722	D	1	D	0.63046	0.992	D	0.68943	0.961	D	0.87757	0.2596	10	0.87932	D	0	.	11.9573	0.52988	0.0:0.0:0.0:1.0	.	79	P53674	CRBB1_HUMAN	G	79	ENSP00000215939:E79G	ENSP00000215939:E79G	E	-	2	0	CRYBB1	25338099	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	7.002000	0.76304	1.596000	0.50062	0.402000	0.26972	GAG	CRYBB1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin	ENSG00000100122		0.627	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB1	HGNC	protein_coding	OTTHUMT00000320767.1		0	40	0	T	NM_001887		27008099	-1			no_errors	ENST00000215939	ensembl	human	known	74_37	missense	5.66	49	3	SNP	1.000	C	C	27008099	T	C	27008099	3	2	73	1	0	0	0	0	1	0	0	0	3917	1551	54	4	538	4	CRYBB1	22	27008099	Missense_Mutation	SNP	T	TCGA-L5-A88V-01A-11D-A351-09	5850506	27008099	24296467	202	19641											
EMID1	129080	genome.wustl.edu	37	chr22	29650196	29650196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcctccacagggggAggggttgcaccagctacgcg	6	9	13	13	2	1	0	0	0	1	0	4	1	3	1	3	4	3	3	3	4	1	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:29650196A>G	ENST00000334018.6	+	14	1312	c.1124A>G	c.(1123-1125)gAg>gGg	p.E375G	EMID1_ENST00000404820.3_Intron|EMID1_ENST00000404755.3_Missense_Mutation_p.E354G	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	373						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CCACAGGGGGAGGGGTTGCAC	0.577																																																	0													98	102	101					22																	29650196		2203	4300	6503	SO:0001583	missense	0			AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"EMI domain containing"	18036	protein-coding gene	gene with protein product	"emilin and multimerin-domain containing protein 1", "putative emu1"	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000334018.6:c.1124A>G	22.37:g.29650196A>G	ENSP00000335481:p.Glu375Gly		B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain	p.E375G	ENST00000334018.6	37	c.1124	CCDS33630.1	22	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477893	0.63849	.	.	ENSG00000186998	ENST00000334018;ENST00000404755	D;D	0.90900	-2.75;-2.59	4.93	4.93	0.64822	.	0.281537	0.25827	N	0.028041	D	0.90079	0.6901	M	0.62088	1.915	0.80722	D	1	B;B;B	0.24317	0.05;0.101;0.083	B;B;B	0.36567	0.069;0.228;0.146	D	0.86941	0.2079	10	0.31617	T	0.26	.	12.591	0.56443	1.0:0.0:0.0:0.0	.	354;373;375	B0QYK4;Q96A84;Q96A84-3	.;EMID1_HUMAN;.	G	375;354	ENSP00000335481:E375G;ENSP00000385414:E354G	ENSP00000335481:E375G	E	+	2	0	EMID1	27980196	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.262000	0.89862	2.075000	0.62263	0.459000	0.35465	GAG	EMID1	-	NULL	ENSG00000186998		0.577	EMID1-003	KNOWN	basic|CCDS	protein_coding	EMID1	HGNC	protein_coding	OTTHUMT00000321076.1		0	74	0	A	NM_133455		29650196	1			no_errors	ENST00000334018	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	G	G	29650196	A	G	29650196	3	3	73	1	0	0	0	0	1	0	0	0	5107	304	11	4	1178	4	EMID1	22	29650196	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	2642097	29650196	21654370	203	19642											
CSNK1E	1454	genome.wustl.edu	37	chr22	38690402	38690402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgggctcggcggcactgcGgagccggttggcagtggccc	4	5	18	14	5	0	0	0	0	0	0	1	1	0	1	2	7	2	4	2	7	0	1			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:38690402G>A	ENST00000396832.1	-	8	1284	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R342C|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R342C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R342C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	342					cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCGGCACTGCGGAGCCGGTTG	0.736																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)												0													5	6	6					22																	38690402		2089	4029	6118	SO:0001583	missense	0				CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.1024C>T	22.37:g.38690402G>A	ENSP00000380044:p.Arg342Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R342C	ENST00000396832.1	37	c.1024	CCDS13970.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.116104|4.116104	0.77323|0.77323	.|.	.|.	ENSG00000213923|ENSG00000213923	ENST00000431632|ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904	.|T;T;T;T	.|0.09911	.|2.93;2.93;2.93;2.93	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.047571	.|0.85682	.|D	.|0.000000	T|T	0.17916|0.17916	0.0430|0.0430	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.67145	.|0.996	.|P	.|0.49752	.|0.621	T|T	0.00142|0.00142	-1.1997|-1.1997	5|10	.|0.66056	.|D	.|0.02	.|.	14.3394|14.3394	0.66614|0.66614	0.0:0.0:0.8518:0.1482|0.0:0.0:0.8518:0.1482	.|.	.|342	.|P49674	.|KC1E_HUMAN	L|C	69|342	.|ENSP00000352929:R342C;ENSP00000380044:R342C;ENSP00000383067:R342C;ENSP00000384074:R342C	.|ENSP00000352929:R342C	P|R	-|-	2|1	0|0	CSNK1E|CSNK1E	37020348|37020348	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.814000|3.814000	0.55643|0.55643	2.602000|2.602000	0.87976|0.87976	0.555000|0.555000	0.69702|0.69702	CCG|CGC	CSNK1E	-	NULL	ENSG00000213923		0.736	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1E	HGNC	protein_coding	OTTHUMT00000321462.1	-	0	11	0	G	NM_001894		38690402	-1	tier1	-	no_errors	ENST00000359867	ensembl	human	known	74_37	missense	90.91	1	10	SNP	1.000	A	A	38690402	G	A	38690402	3	1	73	1	0	0	0	0	1	0	0	0	3962	1116	39	1	238	1	CSNK1E	22	38690402	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	9040206	38690402	12614164	204	19643											
SYNGR1	9145	genome.wustl.edu	37	chr22	39760253	39760253	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccttcatggataggcagCtggacacagaggtcgtgggt	9	9	15	8	1	1	1	1	0	0	1	3	4	2	3	1	5	1	2	1	5	1	2	rs151233936		TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:39760253C>T	ENST00000328933.5	+	2	114				SYNGR1_ENST00000381535.4_Silent_p.S18S|SYNGR1_ENST00000318801.4_Intron|SYNGR1_ENST00000216155.7_Intron|SYNGR1_ENST00000406293.3_Intron	NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1						protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGATAGGCAGCTGGACACAGA	0.597																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	155	134	141		,,54	1.5	0.1	22	dbSNP_134	141	0,8600		0,0,4300	no	intron,intron,coding-synonymous	SYNGR1	NM_004711.4,NM_145731.3,NM_145738.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,18/193	39760253	1,13005	2203	4300	6503	SO:0001627	intron_variant	0			AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.100-10068C>T	22.37:g.39760253C>T			A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Silent	SNP	pfam_Marvel	p.S18	ENST00000328933.5	37	c.54	CCDS13989.1	22																																																																																			SYNGR1	-	NULL	ENSG00000100321		0.597	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR1	HGNC	protein_coding	OTTHUMT00000075866.2	-	0	78	0	C	NM_004711		39760253	1	tier1	rs151233936	no_errors	ENST00000381535	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.069	T	T	39760253	C	T	39760253	1	4	73	0	1	0	0	0	0	0	0	0	15495	796	28	3		3	SYNGR1	22	39760253	Intron	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1069851	39760253	11544313	205	19644											
SGSM3	27352	genome.wustl.edu	37	chr22	40802502	40802502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaacacgctatcggatatcCcgtcgcagatggaggacgcg	10	7	12	12	6	1	1	1	0	0	1	4	4	2	4	1	3	1	2	1	3	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chr22:40802502C>T	ENST00000248929.9	+	10	1210	c.1021C>T	c.(1021-1023)Ccg>Tcg	p.P341S	SGSM3_ENST00000454798.2_Missense_Mutation_p.P274S	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ATCGGATATCCCGTCGCAGAT	0.632																																																	0													47	37	40					22																	40802502		2203	4300	6503	SO:0001583	missense	0			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"Small G protein signaling modulators"	25228	protein-coding gene	gene with protein product	"RUN and SH3 containing 3"	610440	"RUN and TBC1 domain containing 3"	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1021C>T	22.37:g.40802502C>T	ENSP00000248929:p.Pro341Ser			Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.P341S	ENST00000248929.9	37	c.1021	CCDS14002.1	22	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163195	0.78226	.	.	ENSG00000100359	ENST00000248929;ENST00000545416;ENST00000454798	T;T	0.27104	1.69;1.69	5.57	5.57	0.84162	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.76838	2.35	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.753;0.93	D;D;P;P	0.72982	0.979;0.979;0.511;0.696	T	0.53627	-0.8412	10	0.48119	T	0.1	.	19.5412	0.95275	0.0:1.0:0.0:0.0	.	278;274;341;341	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	S	341;284;274	ENSP00000248929:P341S;ENSP00000390998:P274S	ENSP00000248929:P341S	P	+	1	0	SGSM3	39132448	1.000000	0.71417	0.414000	0.26521	0.307000	0.27823	7.433000	0.80362	2.625000	0.88918	0.467000	0.42956	CCG	SGSM3	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000100359		0.632	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321504.2		0	63	0	C	NM_015705		40802502	1			no_errors	ENST00000248929	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	40802502	C	T	40802502	3	4	73	1	0	0	0	0	1	0	0	0	14269	623	22	3	1055	3	SGSM3	22	40802502	Missense_Mutation	SNP	C	TCGA-L5-A88V-01A-11D-A351-09	1042249	40802502	10502064	206	19645											
DGKK	139189	genome.wustl.edu	37	chrX	50165516	50165516	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagatcaatcgtttcaaaGtgtgcaaactggaaagatat	16	10	9	6	1	2	2	2	0	0	2	3	4	2	3	0	1	2	2	0	1	5	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:50165516G>T	ENST00000376025.2	-	0	824							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCGTTTCAAAGTGTGCAAACT	0.418																																																	0													86	81	83					X																	50165516		1940	4133	6073			0			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50165516G>T			B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-	ENSG00000204466		0.418	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	-	0	73	0	G	NM_001013742		50165516	-1	tier1	-	no_errors	ENST00000376025	ensembl	human	known	74_37	rna	78.46	14	51	SNP	0.984	T	T	50165516	G	T	50165516	1	4	73	0	1	0	0	0	0	0	0	0	4486	1020	36	3		3	DGKK	23	50165516	RNA	SNP	G	TCGA-L5-A88V-01A-11D-A351-09		50165516	105105044	207	19646											
PFKFB1	5207	genome.wustl.edu	37	chrX	54961428	54961428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcagagggcacttgaGatatggaagctcatctagaa	12	10	13	6	0	2	3	1	1	1	3	2	5	2	4	0	2	2	3	0	2	4	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:54961428G>T	ENST00000375006.3	-	12	1313	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	PFKFB1_ENST00000545676.1_Missense_Mutation_p.L350I|PFKFB1_ENST00000374992.2_Missense_Mutation_p.L215I	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	415	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GGGCACTTGAGATATGGAAGC	0.557																																																	0													101	69	80					X																	54961428		2203	4300	6503	SO:0001583	missense	0				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.1243C>A	X.37:g.54961428G>T	ENSP00000364145:p.Leu415Ile		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.L415I	ENST00000375006.3	37	c.1243	CCDS14364.1	X	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482419	0.44147	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	L	0.37507	1.11	0.80722	D	1	B;B;B	0.19706	0.003;0.038;0.021	B;B;B	0.28385	0.025;0.089;0.05	T	0.51212	-0.8734	9	0.29301	T	0.29	-10.7098	15.1208	0.72441	0.0:0.0:1.0:0.0	.	350;215;415	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	I	415;350;215	.	ENSP00000364131:L215I	L	-	1	0	PFKFB1	54978153	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	6.409000	0.73289	1.889000	0.54706	0.597000	0.82753	CTC	PFKFB1	-	pirsf_Bifunct_6PFK/fruc_bisP_Ptase	ENSG00000158571		0.557	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	-	0	33	0	G			54961428	-1	tier1	-	no_errors	ENST00000375006	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	54961428	G	T	54961428	3	4	73	1	0	0	0	0	1	0	0	0	11799	942	33	3	184	3	PFKFB1	23	54961428	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	4795912	54961428	100309132	208	19647											
CXCR3	2833	genome.wustl.edu	37	chrX	70837155	70837155	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctgtagagggctggcAggaaggcccggtcgaagttc	8	6	19	8	2	0	1	0	0	0	1	2	4	0	3	1	7	0	5	1	7	3	2			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:70837155A>C	ENST00000373693.3	-	2	234	c.167T>G	c.(166-168)cTg>cGg	p.L56R	CXCR3_ENST00000373691.4_Missense_Mutation_p.L103R	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	56					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GAGGGCTGGCAGGAAGGCCCG	0.637																																																	0													36	36	36					X																	70837155		2202	4296	6498	SO:0001583	missense	0			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif"	4540	protein-coding gene	gene with protein product		300574	"G protein-coupled receptor 9"	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.167T>G	X.37:g.70837155A>C	ENSP00000362797:p.Leu56Arg		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt	p.L103R	ENST00000373693.3	37	c.308	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	A	13.36	2.212687	0.39102	.	.	ENSG00000186810	ENST00000373691;ENST00000373693;ENST00000373687	T;T	0.48836	0.8;0.8	5.28	4.13	0.48395	.	0.534610	0.17389	N	0.175990	T	0.52933	0.1765	M	0.90198	3.095	0.31804	N	0.62804	B;P	0.39576	0.27;0.679	B;B	0.36719	0.151;0.231	T	0.65845	-0.6069	10	0.87932	D	0	.	8.1039	0.30874	0.9047:0.0:0.0953:0.0	.	103;56	P49682-2;P49682	.;CXCR3_HUMAN	R	103;56;56	ENSP00000362795:L103R;ENSP00000362797:L56R	ENSP00000362791:L56R	L	-	2	0	CXCR3	70753880	0.011000	0.17503	0.984000	0.44739	0.292000	0.27327	1.352000	0.34033	0.821000	0.34540	0.486000	0.48141	CTG	CXCR3	-	prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt	ENSG00000186810		0.637	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	HGNC	protein_coding	OTTHUMT00000144141.1		0	9	0	A			70837155	-1			no_errors	ENST00000373691	ensembl	human	known	74_37	missense	81.82	2	9	SNP	0.996	C	C	70837155	A	C	70837155	3	2	73	1	0	0	0	0	1	0	0	0	4101	188	7	4	943	4	CXCR3	23	70837155	Missense_Mutation	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	15875727	70837155	84433405	209	19648											
CHIC1	53344	genome.wustl.edu	37	chrX	72804366	72804366	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctgctgctgttgcacActgggttgcagcctatggcc	4	13	12	12	0	1	0	0	0	1	0	2	0	1	0	2	2	5	6	2	2	1	3			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:72804366A>G	ENST00000373502.5	+	3	542	c.465A>G	c.(463-465)acA>acG	p.T155T	CHIC1_ENST00000373504.6_Silent_p.T155T	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	155	Cys-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					GCTGTTGCACACTGGGTTGCA	0.388																																																	0													130	102	111					X																	72804366		2160	4202	6362	SO:0001819	synonymous_variant	0			Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.465A>G	X.37:g.72804366A>G			A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	Silent	SNP	pfam_Golgin_A_7/ERF4	p.T155	ENST00000373502.5	37	c.465	CCDS35335.2	X																																																																																			CHIC1	-	pfam_Golgin_A_7/ERF4	ENSG00000204116		0.388	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC1	HGNC	protein_coding	OTTHUMT00000057233.3	-	0	51	0	A			72804366	1	tier1	-	no_errors	ENST00000373502	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.967	G	G	72804366	A	G	72804366	2	3	73	1	0	0	0	0	0	0	0	1	3350	146	6	4		4	CHIC1	23	72804366	Silent	SNP	A	TCGA-L5-A88V-01A-11D-A351-09	1967211	72804366	82466194	210	19649											
NKRF	55922	genome.wustl.edu	37	chrX	118723469	118723469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttaagaccatacttctggGcaatctgatgtatttgcttc	9	16	7	9	0	3	2	0	1	3	1	4	2	3	2	1	1	2	3	1	1	4	6			TCGA-L5-A88V-01A-11D-A351-09	TCGA-L5-A88V-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27a60b64-f5ce-45e1-981c-70cf419c8382	ff7c4baf-0683-4fa1-adf5-0afeb27decd2	g.chrX:118723469G>A	ENST00000371527.1	-	2	2571	c.1919C>T	c.(1918-1920)gCc>gTc	p.A640V	NKRF_ENST00000304449.5_Missense_Mutation_p.A640V|NKRF_ENST00000542113.1_Missense_Mutation_p.A655V|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	640	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATACTTCTGGGCAATCTGATG	0.463																																																	0													161	133	142					X																	118723469		2203	4300	6503	SO:0001583	missense	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1919C>T	X.37:g.118723469G>A	ENSP00000360582:p.Ala640Val		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd	p.A655V	ENST00000371527.1	37	c.1964	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849019	0.71603	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.63580	-0.04;-0.04;-0.05	5.95	5.95	0.96441	Single-stranded nucleic acid binding R3H (3);	0.049186	0.85682	D	0.000000	T	0.73760	0.3628	L	0.49513	1.565	0.58432	D	0.999999	P	0.50819	0.939	P	0.60345	0.873	T	0.75291	-0.3369	10	0.87932	D	0	-10.6854	18.1367	0.89622	0.0:0.0:1.0:0.0	.	640	O15226	NKRF_HUMAN	V	640;640;655	ENSP00000360582:A640V;ENSP00000304803:A640V;ENSP00000442308:A655V	ENSP00000304803:A640V	A	-	2	0	NKRF	118607497	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.476000	0.97823	2.506000	0.84524	0.600000	0.82982	GCC	NKRF	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	ENSG00000186416		0.463	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1	-	0	21	0	G	NM_017544		118723469	-1	tier1	-	no_errors	ENST00000542113	ensembl	human	known	74_37	missense	87.18	5	34	SNP	1.000	A	A	118723469	G	A	118723469	3	1	73	1	0	0	0	0	1	0	0	0	10486	1203	42	3	157	3	NKRF	23	118723469	Missense_Mutation	SNP	G	TCGA-L5-A88V-01A-11D-A351-09	45919103	118723469	36547091	211	19650											
NPHP4	261734	genome.wustl.edu	37	chr1	5925321	5925321	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtctgtgtgggtgtcgcCagccagcgatccctgcagtg	5	9	14	13	3	1	0	0	0	1	0	3	1	2	0	3	1	3	1	3	1	0	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:5925321C>A	ENST00000378156.4	-	27	3922	c.3657G>T	c.(3655-3657)ctG>ctT	p.L1219L	MIR4689_ENST00000582517.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1219					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGTGTCGCCAGCCAGCGAT	0.667																																																	0													20	28	25					1																	5925321		2144	4247	6391	SO:0001819	synonymous_variant	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"nephroretinin", "nephrocystin-4", "POC10 centriolar protein homolog (Chlamydomonas)"	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3657G>T	1.37:g.5925321C>A			Q8IWC0	Silent	SNP	NULL	p.L1219	ENST00000378156.4	37	c.3657	CCDS44052.1	1																																																																																			NPHP4	-	NULL	ENSG00000131697		0.667	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	-	0	74	0	C			5925321	-1	tier1	-	no_errors	ENST00000378156	ensembl	human	known	74_37	silent	36.00	48	27	SNP	1.000	A	A	5925321	C	A	5925321	2	1	74	1	0	0	0	0	0	0	0	1	10620	581	21	3		3	NPHP4	1	5925321	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09		5925321	243325300	1	19651											
MTOR	2475	genome.wustl.edu	37	chr1	11187803	11187803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacaaacgagatgcctcttCcaggccttcatgccacatct	10	10	7	14	1	3	1	1	0	2	1	4	2	4	1	4	1	4	1	4	1	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:11187803C>T	ENST00000361445.4	-	44	6170	c.6094G>A	c.(6094-6096)Gaa>Aaa	p.E2032K	MTOR_ENST00000376838.1_Missense_Mutation_p.E237K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2032	Sufficient for interaction with the FKBP1A/rapamycin complex. {ECO:0000250}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GATGCCTCTTCCAGGCCTTCA	0.537																																																	0													214	220	218					1																	11187803		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6094G>A	1.37:g.11187803C>T	ENSP00000354558:p.Glu2032Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2032K	ENST00000361445.4	37	c.6094	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.982923	0.97173	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.11930	2.91;2.73	5.8	5.8	0.92144	FKBP12-rapamycin-associated protein, FKBP12-rapamycin-binding (3);	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64136	-0.6478	10	0.62326	D	0.03	-17.5853	20.063	0.97692	0.0:1.0:0.0:0.0	.	2032	P42345	MTOR_HUMAN	K	2032;237	ENSP00000354558:E2032K;ENSP00000366034:E237K	ENSP00000354558:E2032K	E	-	1	0	MTOR	11110390	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.456000	0.80751	2.735000	0.93741	0.655000	0.94253	GAA	MTOR	-	pfam_Rapamycin-bd_dom,superfamily_Rapamycin-bd_dom	ENSG00000198793		0.537	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	54	0	C	NM_004958		11187803	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	44.74	21	17	SNP	1.000	T	T	11187803	C	T	11187803	3	4	74	1	0	0	0	0	1	0	0	0	9992	864	30	3	1615	3	MTOR	1	11187803	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	5262482	11187803	238062818	2	19652											
PRAMEF10	343071	genome.wustl.edu	37	chr1	12954550	12954550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgctcacgtacaactcacGctcataaccgaaggctaaaa	15	6	7	13	4	3	0	3	0	0	0	3	2	3	0	1	1	3	4	1	1	6	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:12954550G>A	ENST00000235347.4	-	3	812	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	245					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACAACTCACGCTCATAACCG	0.468																																																	0													183	132	148					1																	12954550		1963	4108	6071	SO:0001583	missense	0			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.733C>T	1.37:g.12954550G>A	ENSP00000235347:p.Arg245Cys		Q2M1V2	Missense_Mutation	SNP	NULL	p.R245C	ENST00000235347.4	37	c.733	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	1.547	-0.540318	0.04053	.	.	ENSG00000187545	ENST00000235347	T	0.15487	2.42	0.416	-0.832	0.10785	.	2.616790	0.01776	N	0.031493	T	0.05135	0.0137	N	0.00648	-1.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	9	0.38643	T	0.18	.	.	.	.	.	245	O60809	PRA10_HUMAN	C	245	ENSP00000235347:R245C	ENSP00000235347:R245C	R	-	1	0	PRAMEF10	12877137	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.948000	0.03897	-0.606000	0.05746	-1.188000	0.01700	CGT	PRAMEF10	-	NULL	ENSG00000187545		0.468	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	-	0	303	0	G	XM_496342		12954550	-1	tier1	-	no_errors	ENST00000235347	ensembl	human	known	74_37	missense	38.58	163	103	SNP	0.001	A	A	12954550	G	A	12954550	3	1	74	1	0	0	0	0	1	0	0	0	12468	1087	38	1	699	1	PRAMEF10	1	12954550	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1766747	12954550	236296071	3	19653											
CELA2A	63036	genome.wustl.edu	37	chr1	15788089	15788089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctccaatggcaagtggTaccacacctgcggagggtcc	10	6	12	13	1	0	0	0	0	0	0	2	1	2	1	4	4	3	3	4	4	3	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:15788089T>C	ENST00000359621.4	+	3	188	c.163T>C	c.(163-165)Tac>Cac	p.Y55H		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	55	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TGGCAAGTGGTACCACACCTG	0.602																																																	0													118	103	108					1																	15788089		2203	4300	6503	SO:0001583	missense	0				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"elastase 2A"	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.163T>C	1.37:g.15788089T>C	ENSP00000352639:p.Tyr55His		B2R5I4|Q14243	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Y55H	ENST00000359621.4	37	c.163	CCDS157.1	1	.	.	.	.	.	.	.	.	.	.	T	6.424	0.446272	0.12164	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.88201	-2.35	4.27	-5.35	0.02697	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.147940	0.06744	N	0.778772	T	0.76011	0.3928	N	0.20530	0.585	0.09310	N	0.999996	B	0.10296	0.003	B	0.18561	0.022	T	0.60047	-0.7339	10	0.25106	T	0.35	.	4.9765	0.14144	0.2768:0.3937:0.0:0.3295	.	55	P08217	CEL2A_HUMAN	H	55	ENSP00000352639:Y55H	ENSP00000352639:Y55H	Y	+	1	0	CELA2A	15660676	0.000000	0.05858	0.023000	0.16930	0.018000	0.09664	-2.548000	0.00930	-0.629000	0.05575	-0.760000	0.03462	TAC	CELA2A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000142615		0.602	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	-	0	107	0	T	NM_033440		15788089	1	tier1	-	no_errors	ENST00000359621	ensembl	human	known	74_37	missense	39.53	52	34	SNP	0.005	C	C	15788089	T	C	15788089	3	2	74	1	0	0	0	0	1	0	0	0	3218	1638	57	4	173	4	CELA2A	1	15788089	Missense_Mutation	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	2833539	15788089	233462532	4	19654											
EPHA2	1969	genome.wustl.edu	37	chr1	16459852	16459852	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcatgcccttgtacacctCcccaaactctcctgtgggca	8	9	7	17	0	1	0	0	0	1	0	3	0	2	0	5	1	4	3	5	1	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:16459852C>A	ENST00000358432.5	-	11	2030	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	626	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TTGTACACCTCCCCAAACTCT	0.632																																																	0													78	71	73					1																	16459852		2203	4300	6503	SO:0001587	stop_gained	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1876G>T	1.37:g.16459852C>A	ENSP00000351209:p.Glu626*		B5A968|Q8N3Z2	Nonsense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E626*	ENST00000358432.5	37	c.1876	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	41	9.159460	0.99085	.	.	ENSG00000142627	ENST00000358432	.	.	.	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0794	0.89438	0.0:1.0:0.0:0.0	.	.	.	.	X	626	.	ENSP00000351209:E626X	E	-	1	0	EPHA2	16332439	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.802000	0.85969	2.635000	0.89317	0.650000	0.86243	GAG	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142627		0.632	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0	43	0	C	NM_004431		16459852	-1	tier1	-	no_errors	ENST00000358432	ensembl	human	known	74_37	nonsense	31.43	24	11	SNP	1.000	A	A	16459852	C	A	16459852	4	1	74	1	0	0	0	0	0	1	0	0	5183	864	30	3	1082	3	EPHA2	1	16459852	Nonsense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	671763	16459852	232790769	5	19655											
EIF2C1	26523	genome.wustl.edu	37	chr1	36379442	36379442	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttctctccctgcccttaGctgaggtgaaacgtgtcgga	7	12	10	12	2	1	2	0	2	1	0	4	3	2	3	2	2	3	1	2	2	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:36379442G>A	ENST00000373204.4	+	13	1795		c.e13-1		AGO1_ENST00000373206.1_Splice_Site	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCTGCCCTTAGCTGAGGTGAA	0.473																																																	0													114	101	106					1																	36379442		2203	4300	6503	SO:0001630	splice_region_variant	0			AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"Argonaute/PIWI family"	3262	protein-coding gene	gene with protein product	"argonaute 1"	606228	"eukaryotic translation initiation factor 2C, 1"	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1583-1G>A	1.37:g.36379442G>A			Q5TA57|Q6P4S0	Splice_Site	SNP	-	e13-1	ENST00000373204.4	37	c.1583-1	CCDS398.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008214	0.75046	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	.	.	.	5.89	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2861	0.73828	0.0673:0.0:0.9327:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2C1	36152029	1.000000	0.71417	0.998000	0.56505	0.795000	0.44927	9.869000	0.99810	1.509000	0.48786	0.650000	0.86243	.	AGO1	-	-	ENSG00000092847		0.473	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO1	HGNC	protein_coding	OTTHUMT00000019337.3	-	0	61	0	G		Intron	36379442	1	tier1	-	no_errors	ENST00000373204	ensembl	human	known	74_37	splice_site	27.69	46	18	SNP	1.000	A	A	36379442	G	A	36379442	5	1	74	1	0	0	0	0	0	0	1	0	5019	985	34	3	1632	3	EIF2C1	1	36379442	Splice_Site	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	19919590	36379442	212871179	6	19656											
RLF	6018	genome.wustl.edu	37	chr1	40702482	40702482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaaaataatgatgaaaatgCcaagcactacttggatatga	18	9	7	7	0	0	3	0	3	0	0	0	4	0	4	2	1	3	1	2	1	8	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:40702482C>T	ENST00000372771.4	+	8	2135	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	703					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GATGAAAATGCCAAGCACTAC	0.383																																																	0													87	89	88					1																	40702482		2203	4300	6503	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2108C>T	1.37:g.40702482C>T	ENSP00000361857:p.Ala703Val		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A703V	ENST00000372771.4	37	c.2108	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396343	0.42512	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.37058	1.22	5.97	5.97	0.96955	.	0.099063	0.64402	D	0.000001	T	0.48502	0.1503	L	0.50333	1.59	0.51233	D	0.999918	P;P	0.49185	0.92;0.615	P;B	0.51550	0.673;0.219	T	0.20806	-1.0264	10	0.41790	T	0.15	-6.5451	20.4388	0.99107	0.0:1.0:0.0:0.0	.	396;703	F5H2M5;Q13129	.;RLF_HUMAN	V	703;396	ENSP00000361857:A703V	ENSP00000361857:A703V	A	+	2	0	RLF	40475069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.393000	0.66279	2.836000	0.97738	0.655000	0.94253	GCC	RLF	-	NULL	ENSG00000117000		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	-	0	82	0	C	NM_012421		40702482	1	tier1	-	no_errors	ENST00000372771	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	40702482	C	T	40702482	3	4	74	1	0	0	0	0	1	0	0	0	13434	739	26	3	2138	3	RLF	1	40702482	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	4323040	40702482	208548139	7	19657											
IL23R	149233	genome.wustl.edu	37	chr1	67724812	67724812	+	3'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcactcttggaaaagtagAgctgtgtggtcaaaatcaat	13	13	9	6	0	4	1	3	0	1	1	4	2	4	2	0	2	1	2	0	2	6	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:67724812A>G	ENST00000347310.5	+	0	2062				IL23R_ENST00000395227.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor						defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GGAAAAGTAGAGCTGTGTGGT	0.358																																																	0													33	35	35					1																	67724812		2194	4297	6491	SO:0001624	3_prime_UTR_variant	0			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.*1A>G	1.37:g.67724812A>G			C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	RNA	SNP	-	NULL	ENST00000347310.5	37	NULL	CCDS637.1	1																																																																																			IL23R	-	-	ENSG00000162594		0.358	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	HGNC	protein_coding	OTTHUMT00000025199.2	-	0	50	0	A	NM_144701		67724812	1	tier1	-	no_errors	ENST00000473881	ensembl	human	known	74_37	rna	53.06	23	26	SNP	0.351	G	G	67724812	A	G	67724812	1	3	74	0	1	0	0	0	0	0	0	0	7703	319	11	4		4	IL23R	1	67724812	3'UTR	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	27022330	67724812	181525809	8	19658											
S1PR1	1901	genome.wustl.edu	37	chr1	101705189	101705189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctgcttctgctctccAtcgtcattctgtactgcaga	6	15	6	14	1	6	1	2	0	4	1	8	1	6	1	1	0	4	4	1	0	1	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:101705189A>G	ENST00000305352.6	+	2	1024	c.649A>G	c.(649-651)Atc>Gtc	p.I217V		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	217					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCTGCTCTCCATCGTCATTCT	0.567																																																	0													131	124	126					1																	101705189		2203	4300	6503	SO:0001583	missense	0			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate", "CD molecules"	3165	protein-coding gene	gene with protein product		601974	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.649A>G	1.37:g.101705189A>G	ENSP00000305416:p.Ile217Val		D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.I217V	ENST00000305352.6	37	c.649	CCDS777.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032853	0.75504	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.46451	0.87	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.68345	-0.5433	10	0.87932	D	0	.	15.2544	0.73573	1.0:0.0:0.0:0.0	.	217	P21453	S1PR1_HUMAN	V	217	ENSP00000305416:I217V	ENSP00000305416:I217V	I	+	1	0	S1PR1	101477777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.000000	0.58554	0.369000	0.22263	ATC	S1PR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000170989		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	-	0	20	0	A	NM_001400		101705189	1	tier1	-	no_errors	ENST00000305352	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	G	G	101705189	A	G	101705189	3	3	74	1	0	0	0	0	1	0	0	0	13838	217	8	4	651	4	S1PR1	1	101705189	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	33980377	101705189	147545432	9	19659											
COL11A1	1301	genome.wustl.edu	37	chr1	103467522	103467522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaccttgtggaccaggaaGaccctattttaaaagaattt	13	12	9	7	0	0	2	0	0	0	2	0	5	0	5	3	3	0	0	3	3	5	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:103467522G>A	ENST00000370096.3	-	24	2413	c.2101C>T	c.(2101-2103)Ctt>Ttt	p.L701F	COL11A1_ENST00000353414.4_Missense_Mutation_p.L662F|COL11A1_ENST00000512756.1_Missense_Mutation_p.L585F|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Missense_Mutation_p.L713F	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	701	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAGGAAGACCCTATTTT	0.343																																																	0													85	88	87					1																	103467522		2203	4299	6502	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2101C>T	1.37:g.103467522G>A	ENSP00000359114:p.Leu701Phe		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.L713F	ENST00000370096.3	37	c.2137	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374411	0.82573	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93752	0.8003	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.999	D;D;D;D	0.85130	0.986;0.997;0.997;0.994	D	0.92408	0.5935	10	0.27785	T	0.31	.	19.949	0.97192	0.0:0.0:1.0:0.0	.	585;662;713;701	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	F	701;713;662;585	ENSP00000359114:L701F;ENSP00000351163:L713F;ENSP00000302551:L662F;ENSP00000426533:L585F	ENSP00000302551:L662F	L	-	1	0	COL11A1	103240110	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.831000	0.92068	2.706000	0.92434	0.655000	0.94253	CTT	COL11A1	-	NULL	ENSG00000060718		0.343	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	125	0	G	NM_080630		103467522	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	28.80	89	36	SNP	1.000	A	A	103467522	G	A	103467522	3	1	74	1	0	0	0	0	1	0	0	0	3674	942	33	3	3495	3	COL11A1	1	103467522	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1762333	103467522	145783099	10	19660											
AMY1A	278	genome.wustl.edu	37	chr1	104297202	104297202	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacaatcaacgaggacaTggcgctggaggagcctctat	12	7	12	10	2	2	1	1	1	1	0	2	5	2	4	1	4	2	1	1	4	3	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:104297202T>C	ENST00000370079.3	+	6	1024	c.960T>C	c.(958-960)caT>caC	p.H320H		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	320					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		AACGAGGACATGGCGCTGGAG	0.418																																																	0													141	140	141					1																	104297202		2176	4217	6393	SO:0001819	synonymous_variant	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.960T>C	1.37:g.104297202T>C			A6NJS5|A8K8H6|Q13763|Q5T083	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.H320	ENST00000370079.3	37	c.960	CCDS30784.1	1																																																																																			AMY1C	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000187733		0.418	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0	317	0	T	NM_001008219		104297202	1	tier1	-	no_errors	ENST00000370079	ensembl	human	known	74_37	silent	16.91	226	46	SNP	1.000	C	C	104297202	T	C	104297202	2	2	74	1	0	0	0	0	0	0	0	1	591	1461	51	4		4	AMY1A	1	104297202	Silent	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	829680	104297202	144953419	11	19661											
NTNG1	22854	genome.wustl.edu	37	chr1	108023343	108023343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcctctgcgagaagctgCggtgcgaggaggctggcagc	7	6	17	11	3	1	1	0	0	1	1	2	4	2	2	1	4	5	4	1	4	1	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:108023343C>T	ENST00000370068.1	+	8	2347	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	NTNG1_ENST00000370061.3_Missense_Mutation_p.R467W|NTNG1_ENST00000370070.2_Missense_Mutation_p.R422W|NTNG1_ENST00000370065.1_Missense_Mutation_p.R456W|NTNG1_ENST00000542803.1_Missense_Mutation_p.R501W|NTNG1_ENST00000370074.4_Missense_Mutation_p.R400W|NTNG1_ENST00000370066.1_Missense_Mutation_p.R442W|NTNG1_ENST00000370071.2_Missense_Mutation_p.R442W|NTNG1_ENST00000370072.3_Missense_Mutation_p.R456W|NTNG1_ENST00000370067.1_Missense_Mutation_p.R422W|NTNG1_ENST00000370073.2_Missense_Mutation_p.R501W			Q9Y2I2	NTNG1_HUMAN	netrin G1	501					axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGAGAAGCTGCGGTGCGAGGA	0.706																																																	0													20	22	21					1																	108023343		2198	4299	6497	SO:0001583	missense	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1501C>T	1.37:g.108023343C>T	ENSP00000359085:p.Arg501Trp		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.R501W	ENST00000370068.1	37	c.1501	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033939	0.54896	.	.	ENSG00000162631	ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000370067;ENST00000370066;ENST00000370065	T;D;T;T;T;D;D;T;D;D;T	0.91843	0.66;-2.92;0.61;0.0;-0.05;-2.92;-2.92;0.66;-2.92;-2.92;0.03	4.87	3.88	0.44766	.	0.463268	0.15950	N	0.236781	D	0.91074	0.7191	L	0.39245	1.2	0.24093	N	0.995903	D;D;D;D	0.76494	0.99;0.99;0.999;0.986	P;P;D;P	0.64687	0.852;0.777;0.928;0.625	D	0.84686	0.0720	10	0.87932	D	0	.	13.0872	0.59149	0.2921:0.7079:0.0:0.0	.	467;501;442;400	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-1	.;NTNG1_HUMAN;.;.	W	501;442;501;467;456;422;400;304;248;400;501;422;442;456	ENSP00000359090:R501W;ENSP00000359088:R442W;ENSP00000440561:R501W;ENSP00000359078:R467W;ENSP00000359089:R456W;ENSP00000359087:R422W;ENSP00000359091:R400W;ENSP00000359085:R501W;ENSP00000359084:R422W;ENSP00000359083:R442W;ENSP00000359082:R456W	ENSP00000359078:R467W	R	+	1	2	NTNG1	107824866	0.996000	0.38824	1.000000	0.80357	0.532000	0.34746	2.392000	0.44433	2.384000	0.81235	0.462000	0.41574	CGG	NTNG1	-	NULL	ENSG00000162631		0.706	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	-	0	44	0	C	NM_014917		108023343	1	tier1	-	no_errors	ENST00000370068	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.997	T	T	108023343	C	T	108023343	3	4	74	1	0	0	0	0	1	0	0	0	10743	759	27	1	1661	1	NTNG1	1	108023343	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	3726141	108023343	141227278	12	19662											
CD101	9398	genome.wustl.edu	37	chr1	117568494	117568494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatcaagcatccgatgagtCacagcggatggtgctcacgg	11	8	12	10	3	3	1	3	1	0	0	4	3	4	2	1	3	3	2	1	3	2	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:117568494C>T	ENST00000256652.4	+	8	2850	c.2792C>T	c.(2791-2793)tCa>tTa	p.S931L	RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000369470.1_Missense_Mutation_p.S931L|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	931					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCCGATGAGTCACAGCGGATG	0.542																																																	0													71	66	68					1																	117568494		2203	4300	6503	SO:0001583	missense	0			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5949	protein-coding gene	gene with protein product		604516	"immunoglobulin superfamily, member 2"	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.2792C>T	1.37:g.117568494C>T	ENSP00000256652:p.Ser931Leu		Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S931L	ENST00000256652.4	37	c.2792	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113998	0.56398	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.08807	3.05;3.05	5.15	5.15	0.70609	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.41938	D	0.000798	T	0.12135	0.0295	L	0.32530	0.975	0.37773	D	0.926737	D	0.76494	0.999	D	0.78314	0.991	T	0.01316	-1.1387	10	0.87932	D	0	-13.1533	13.996	0.64402	0.0:1.0:0.0:0.0	.	931	Q93033	IGSF2_HUMAN	L	931	ENSP00000256652:S931L;ENSP00000358482:S931L	ENSP00000256652:S931L	S	+	2	0	CD101	117370017	0.978000	0.34361	0.772000	0.31596	0.122000	0.20287	2.663000	0.46774	2.677000	0.91161	0.561000	0.74099	TCA	CD101	-	smart_Ig_sub	ENSG00000134256		0.542	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1		0	30	0	C	NM_004258		117568494	1			no_errors	ENST00000256652	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.955	T	T	117568494	C	T	117568494	3	4	74	1	0	0	0	0	1	0	0	0	2969	838	29	3	2822	3	CD101	1	117568494	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	9545151	117568494	131682127	13	19663											
PDE4DIP	9659	genome.wustl.edu	37	chr1	144859760	144859760	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcccttttccttcctaccTtggaggagcagctgcttgtt	5	15	9	12	0	0	0	0	0	0	0	3	2	3	2	4	2	4	4	4	2	1	7			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:144859760T>G	ENST00000369354.3	-	38	6513	c.6324A>C	c.(6322-6324)caA>caC	p.Q2108H	PDE4DIP_ENST00000369359.4_Splice_Site_p.Q2244H|PDE4DIP_ENST00000369356.4_Splice_Site_p.Q2108H|PDE4DIP_ENST00000313382.9_Splice_Site_p.Q2002H|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Splice_Site_p.Q2193H|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2108					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTTCCTACCTTGGAGGAGCA	0.567			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													60	61	61					1																	144859760		2203	4298	6501	SO:0001630	splice_region_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6325+1A>C	1.37:g.144859760T>G			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.Q2108H	ENST00000369354.3	37	c.6324	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565452	0.45694	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01560	4.77;4.87;4.87;4.86;4.86	4.91	4.91	0.64330	.	.	.	.	.	T	0.02342	0.0072	L	0.52011	1.625	0.80722	D	1	D;P	0.54207	0.965;0.924	P;P	0.56474	0.799;0.459	T	0.65923	-0.6050	9	0.29301	T	0.29	.	12.7921	0.57539	0.0:0.0:0.0:1.0	.	2002;2108	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	H	2002;2108;2108;2193;2244	ENSP00000327209:Q2002H;ENSP00000358360:Q2108H;ENSP00000358363:Q2108H;ENSP00000435654:Q2193H;ENSP00000358366:Q2244H	ENSP00000327209:Q2002H	Q	-	3	2	PDE4DIP	143571117	1.000000	0.71417	0.997000	0.53966	0.052000	0.14988	2.058000	0.41374	1.974000	0.57490	0.528000	0.53228	CAA	PDE4DIP	-	NULL	ENSG00000178104		0.567	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0	60	0	T	NM_022359	Missense_Mutation	144859760	-1	tier1	-	no_errors	ENST00000369356	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	G	G	144859760	T	G	144859760	5	3	74	1	0	0	0	0	0	0	1	0	11682	1623	56	4	744	4	PDE4DIP	1	144859760	Splice_Site	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	27291266	144859760	104390861	14	19664											
PIP5K1A	8394	genome.wustl.edu	37	chr1	151219428	151219428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcttgaagttgcagagtCagagttcacccatgtgagta	13	10	11	7	0	2	4	2	2	0	2	2	4	2	4	1	0	2	5	1	0	3	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:151219428C>T	ENST00000368888.4	+	15	2095	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	PIP5K1A_ENST00000409426.1_Missense_Mutation_p.S546L|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.S518L|PIP5K1A_ENST00000414290.2_Nonsense_Mutation_p.Q167*|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.S496L	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	558					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTGCAGAGTCAGAGTTCACC	0.418																																					Pancreas(80;36 1443 2325 16095 21302)												0													169	159	163					1																	151219428		2203	4300	6503	SO:0001583	missense	0			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.1673C>T	1.37:g.151219428C>T	ENSP00000357883:p.Ser558Leu		A8K4Q0|B4DIN0|Q99754|Q99756	Nonsense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.Q167*	ENST00000368888.4	37	c.499	CCDS44219.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.15|19.15	3.770827|3.770827	0.69992|0.69992	.|.	.|.	ENSG00000143398|ENSG00000143398	ENST00000414290|ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	.|T;T;T;T;T	.|0.35789	.|1.66;1.66;1.38;1.29;1.66	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|44.810200	.|0.00664	.|U	.|0.000615	.|T	.|0.30479	.|0.0766	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.30281	.|0.0;0.275;0.0;0.275	.|B;B;B;B	.|0.36289	.|0.001;0.112;0.001;0.221	.|T	.|0.16808	.|-1.0390	.|10	0.05525|0.72032	T|D	0.97|0.01	.|.	13.2961|13.2961	0.60298|0.60298	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|518;496;558;545	.|Q99755-4;Q99755-2;Q99755;Q99755-3	.|.;.;PI51A_HUMAN;.	X|L	167|545;546;518;496;558	.|ENSP00000271663:S545L;ENSP00000386432:S546L;ENSP00000415648:S518L;ENSP00000357885:S496L;ENSP00000357883:S558L	ENSP00000388800:Q167X|ENSP00000271663:S545L	Q|S	+|+	1|2	0|0	PIP5K1A|PIP5K1A	149486052|149486052	0.985000|0.985000	0.35326|0.35326	0.870000|0.870000	0.34147|0.34147	0.993000|0.993000	0.82548|0.82548	1.235000|1.235000	0.32671|0.32671	2.505000|2.505000	0.84491|0.84491	0.563000|0.563000	0.77884|0.77884	CAG|TCA	PIP5K1A	-	NULL	ENSG00000143398		0.418	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	-	0	59	0	C	NM_003557		151219428	1	tier1	-	no_errors	ENST00000414290	ensembl	human	known	74_37	nonsense	41.07	33	23	SNP	0.994	T	T	151219428	C	T	151219428	3	4	74	1	0	0	0	0	1	0	0	0	11978	838	29	3	1731	3	PIP5K1A	1	151219428	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	6359668	151219428	98031193	15	19665											
RABGAP1L	9910	genome.wustl.edu	37	chr1	174652677	174652677	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcctactctgtgtatgaTgaagacattgggtactgtca	10	13	11	7	0	2	3	1	2	1	1	2	3	2	3	1	2	2	2	1	2	5	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:174652677T>G	ENST00000251507.4	+	15	2016	c.1842T>G	c.(1840-1842)gaT>gaG	p.D614E		NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						CTGTGTATGATGAAGACATTG	0.398																																																	0													223	200	208					1																	174652677		2203	4300	6503	SO:0001583	missense	0			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1842T>G	1.37:g.174652677T>G	ENSP00000251507:p.Asp614Glu		B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.D614E	ENST00000251507.4	37	c.1842	CCDS1314.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935838	0.73442	.	.	ENSG00000152061	ENST00000251507;ENST00000367692	T	0.04706	3.57	5.42	2.94	0.34122	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.27384	0.0672	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.08432	-1.0722	10	0.87932	D	0	.	10.6027	0.45375	0.0:0.0929:0.0:0.9071	.	614	Q5R372	RBG1L_HUMAN	E	614;626	ENSP00000251507:D614E	ENSP00000251507:D614E	D	+	3	2	RABGAP1L	172919300	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.999000	0.29757	0.355000	0.24131	0.533000	0.62120	GAT	RABGAP1L	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000152061		0.398	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084497.1	-	0	105	0	T	NM_001243765		174652677	1	tier1	-	no_errors	ENST00000251507	ensembl	human	known	74_37	missense	31.19	74	34	SNP	1.000	G	G	174652677	T	G	174652677	3	3	74	1	0	0	0	0	1	0	0	0	13010	1461	51	4	1896	4	RABGAP1L	1	174652677	Missense_Mutation	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	23433249	174652677	74597944	16	19666											
LGTN	1939	genome.wustl.edu	37	chr1	206776495	206776495	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaccccttctcttcactGagatctgctgaatccagggc	9	10	8	14	0	3	3	1	2	2	2	5	4	4	3	3	1	1	1	3	1	1	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:206776495G>C	ENST00000271764.2	-	6	802	c.594C>G	c.(592-594)ctC>ctG	p.L198L	EIF2D_ENST00000367114.3_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	198					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCTCTTCACTGAGATCTGCTG	0.552																																																	0													136	127	130					1																	206776495		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.594C>G	1.37:g.206776495G>C			Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Silent	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.L198	ENST00000271764.2	37	c.594	CCDS1465.1	1																																																																																			EIF2D	-	NULL	ENSG00000143486		0.552	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	-	0	69	0	G	NM_006893		206776495	-1	tier1	-	no_errors	ENST00000271764	ensembl	human	known	74_37	silent	30.56	50	22	SNP	0.001	C	C	206776495	G	C	206776495	2	2	74	1	0	0	0	0	0	0	0	1	8789	1277	45	5		5	LGTN	1	206776495	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	32123818	206776495	42474126	17	19667											
ZNF672	79894	genome.wustl.edu	37	chr1	249142289	249142289	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagttccacgctgctgcgCcatcggcgcagccatcaggg	7	6	14	14	4	1	1	1	0	0	1	3	2	2	1	3	2	3	4	3	2	0	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr1:249142289C>G	ENST00000306562.3	+	4	1562	c.816C>G	c.(814-816)cgC>cgG	p.R272R		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTGCTGCGCCATCGGCGCA	0.687																																																	0													7	6	6					1																	249142289		2145	4189	6334	SO:0001819	synonymous_variant	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.816C>G	1.37:g.249142289C>G			Q96H65|Q96IM3|Q9H6G5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R272	ENST00000306562.3	37	c.816	CCDS1638.1	1																																																																																			ZNF672	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.687	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2		0	8	0	C	NM_024836		249142289	1			no_errors	ENST00000306562	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.534	G	G	249142289	C	G	249142289	2	3	74	1	0	0	0	0	0	0	0	1	18127	726	26	5		5	ZNF672	1	249142289	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	42365794	249142289	108332	18	19668											
ADI1	55256	genome.wustl.edu	37	chr2	3502816	3502816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtacgctgtccacaccGgttctcccacaaacagccgc	8	8	9	16	3	1	0	0	0	1	0	3	0	2	0	4	2	3	4	4	2	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:3502816G>A	ENST00000327435.6	-	4	706	c.458C>T	c.(457-459)cCg>cTg	p.P153L	ADI1_ENST00000382093.5_Missense_Mutation_p.P147L|RP11-1293J14.1_ENST00000607415.1_lincRNA	NM_018269.3	NP_060739.2			acireductone dioxygenase 1											breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		TGTCCACACCGGTTCTCCCAC	0.537																																																	0													48	47	48					2																	3502816		2203	4300	6503	SO:0001583	missense	0				CCDS1653.1	2p25.2	2013-05-29			ENSG00000182551	ENSG00000182551	1.13.11.54		30576	protein-coding gene	gene with protein product	"membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1"	613400				14718544, 15938715	Standard	NM_018269		Approved	SIPL, MTCBP-1, ARD, APL1, FLJ10913, HMFT1638, mtnD	uc002qxp.4	Q9BV57	OTTHUMG00000112441	ENST00000327435.6:c.458C>T	2.37:g.3502816G>A	ENSP00000333666:p.Pro153Leu			Missense_Mutation	SNP	pfam_Acireductn_dOase_family,pfam_Cupin_2,pfam_AraC-bd,superfamily_RmlC_Cupin	p.P153L	ENST00000327435.6	37	c.458	CCDS1653.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113603	0.77210	.	.	ENSG00000182551	ENST00000327435;ENST00000382093	.	.	.	4.59	3.71	0.42584	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.049075	0.85682	N	0.000000	D	0.85366	0.5680	H	0.95950	3.745	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	D	0.88752	0.3251	9	0.87932	D	0	-11.5187	11.5665	0.50809	0.0881:0.0:0.9119:0.0	.	153	Q9BV57	MTND_HUMAN	L	153;147	.	ENSP00000333666:P153L	P	-	2	0	ADI1	3481823	1.000000	0.71417	0.070000	0.20053	0.511000	0.34104	6.900000	0.75687	1.283000	0.44513	0.655000	0.94253	CCG	ADI1	-	pfam_Acireductn_dOase_family,pfam_AraC-bd,superfamily_RmlC_Cupin	ENSG00000182551		0.537	ADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADI1	HGNC	protein_coding	OTTHUMT00000231914.6	-	0	93	0	G	NM_018269		3502816	-1	tier1	-	no_errors	ENST00000327435	ensembl	human	known	74_37	missense	36.23	44	25	SNP	0.993	A	A	3502816	G	A	3502816	3	1	74	1	0	0	0	0	1	0	0	0	315	1116	39	1	85	1	ADI1	2	3502816	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		3502816	239696557	19	19669											
STON1	11037	genome.wustl.edu	37	chr2	48808503	48808503	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcagctgagaaccaagactCacttagaagtttgtctatgc	12	11	9	9	0	3	3	2	1	1	3	3	4	3	3	1	0	3	2	1	0	5	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:48808503C>G	ENST00000406226.1	+	3	926	c.731C>G	c.(730-732)tCa>tGa	p.S244*	STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.S244*|STON1_ENST00000404752.1_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.S244*|STON1_ENST00000309835.3_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.S244*	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	244					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACCAAGACTCACTTAGAAGT	0.433																																																	0													90	81	84					2																	48808503		2203	4300	6503	SO:0001587	stop_gained	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"stoned B homolog 1 (Drosophila)"	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.731C>G	2.37:g.48808503C>G	ENSP00000384615:p.Ser244*		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.S244*	ENST00000406226.1	37	c.731	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679128	0.68042	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	.	.	.	5.24	5.24	0.73138	.	2.796080	0.00857	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.0458	0.71827	0.1425:0.8575:0.0:0.0	.	.	.	.	X	244	.	ENSP00000310969:S244X	S	+	2	0	STON1-GTF2A1L;STON1	48662007	0.783000	0.28701	0.084000	0.20598	0.041000	0.13682	0.878000	0.28126	2.884000	0.98904	0.655000	0.94253	TCA	STON1-GTF2A1L	-	NULL	ENSG00000068781		0.433	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	-	0	78	0	C	NM_006873		48808503	1	tier1	-	no_errors	ENST00000309827	ensembl	human	known	74_37	nonsense	38.60	34	22	SNP	0.108	G	G	48808503	C	G	48808503	4	3	74	1	0	0	0	0	0	1	0	0	15363	838	29	5	733	5	STON1	2	48808503	Nonsense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	45305687	48808503	194390870	20	19670											
TET3	200424	genome.wustl.edu	37	chr2	74329136	74329136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaggccaagctctacGggaagaagcgcaagtggggg	12	3	18	8	2	1	1	0	0	1	1	1	3	1	3	1	5	4	3	1	5	5	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:74329136G>A	ENST00000409262.3	+	9	4816	c.4816G>A	c.(4816-4818)Ggg>Agg	p.G1606R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1606					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGCTCTACGGGAAGAAGCG	0.677																																																	0													11	15	14					2																	74329136		2032	4163	6195	SO:0001583	missense	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"tet oncogene family member 3"			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4816G>A	2.37:g.74329136G>A	ENSP00000386869:p.Gly1606Arg		A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.G1606R	ENST00000409262.3	37	c.4816	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696240	0.68386	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14144	2.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03060	-1.1077	10	0.45353	T	0.12	.	17.6308	0.88106	0.0:0.0:1.0:0.0	.	1606	O43151	TET3_HUMAN	R	1606;1490	ENSP00000386869:G1606R	ENSP00000233310:G1490R	G	+	1	0	TET3	74182644	1.000000	0.71417	0.959000	0.39883	0.694000	0.40290	5.250000	0.65432	2.707000	0.92482	0.655000	0.94253	GGG	TET3	-	NULL	ENSG00000187605		0.677	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	-	0	9	0	G			74329136	1	tier1	-	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	A	A	74329136	G	A	74329136	3	1	74	1	0	0	0	0	1	0	0	0	15818	1116	39	1	4850	1	TET3	2	74329136	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	25520633	74329136	168870237	21	19671											
GLI2	2736	genome.wustl.edu	37	chr2	121726451	121726451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcccgaagcagctcggcgGccagcggttcctacgggcat	7	6	13	15	5	0	0	0	0	0	0	3	1	2	0	3	4	4	4	3	4	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:121726451G>A	ENST00000452319.1	+	6	865	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	GLI2_ENST00000361492.4_Missense_Mutation_p.A269T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCGGCGGCCAGCGGTTC	0.667																																																	0													54	50	51					2																	121726451		2203	4300	6503	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.805G>A	2.37:g.121726451G>A	ENSP00000390436:p.Ala269Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A269T	ENST00000452319.1	37	c.805	CCDS33283.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.267683|4.267683	0.80469|0.80469	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000452319;ENST00000361492|ENST00000440937;ENST00000360874	T;T|.	0.70631|.	-0.5;-0.5|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.54415|0.54415	0.1857|0.1857	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.38504	1.0;1.0|0.634	D;D|B	0.83275|0.33620	0.996;0.996|0.167	T|T	0.63260|0.63260	-0.6677|-0.6677	10|8	0.49607|0.87932	T|D	0.09|0	.|.	18.2868|18.2868	0.90117|0.90117	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	269;269|139	P10070;Q0VGA0|F5H4D9	GLI2_HUMAN;.|.	T|D	269|139;131	ENSP00000390436:A269T;ENSP00000354586:A269T|.	ENSP00000354586:A269T|ENSP00000441454:G131D	A|G	+|+	1|2	0|0	GLI2|GLI2	121442921|121442921	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.173000|0.173000	0.22820|0.22820	9.601000|9.601000	0.98297|0.98297	2.557000|2.557000	0.86248|0.86248	0.655000|0.655000	0.94253|0.94253	GCC|GGC	GLI2	-	NULL	ENSG00000074047		0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3		0	71	0	G	NM_005270		121726451	1			no_errors	ENST00000361492	ensembl	human	known	74_37	missense	5.63	66	4	SNP	1.000	A	A	121726451	G	A	121726451	3	1	74	1	0	0	0	0	1	0	0	0	6464	1203	42	3	823	3	GLI2	2	121726451	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	47397315	121726451	121472922	22	19672											
NEB	4703	genome.wustl.edu	37	chr2	152436107	152436107	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttagggtcttccttggcGctgcgacagccaatgtaatg	8	12	12	9	2	1	0	0	0	1	0	2	1	2	0	2	2	2	3	2	2	3	5	rs546992311	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:152436107G>A	ENST00000172853.10	-	78	11749				NEB_ENST00000409198.1_Intron|NEB_ENST00000427231.2_Silent_p.S5483S|NEB_ENST00000604864.1_Silent_p.S5483S|NEB_ENST00000397345.3_Silent_p.S5483S|NEB_ENST00000603639.1_Silent_p.S5483S			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCCTTGGCGCTGCGACAGC	0.428													A|||	63	0.0125799	0	0.0159	5008	,	,		19554	0.0446		0	False		,,,				2504	0.0072																0													1	1	1					2																	152436107		39	113	152	SO:0001627	intron_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.11602-3239C>T	2.37:g.152436107G>A			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.S5483	ENST00000172853.10	37	c.16449		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.428	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	34	0	G	NM_004543		152436107	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.061	A	A	152436107	G	A	152436107	1	1	74	0	1	0	0	0	0	0	0	0	10341	1078	38	1		1	NEB	2	152436107	Intron	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	30709656	152436107	90763266	23	19673											
LRP2	4036	genome.wustl.edu	37	chr2	170063036	170063036	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtccaagtgtaagcttctCaaggaattagacaaggcaaa	15	8	11	7	0	1	1	1	0	1	1	3	2	2	2	1	3	1	3	1	3	7	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:170063036C>G	ENST00000263816.3	-	39	7479	c.7194G>C	c.(7192-7194)ttG>ttC	p.L2398F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2398					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTAAGCTTCTCAAGGAATTAG	0.418																																																	0													85	85	85					2																	170063036		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7194G>C	2.37:g.170063036C>G	ENSP00000263816:p.Leu2398Phe		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L2398F	ENST00000263816.3	37	c.7194	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978832	0.53720	.	.	ENSG00000081479	ENST00000263816	D	0.92911	-3.13	6.07	3.87	0.44632	Six-bladed beta-propeller, TolB-like (1);	0.384213	0.26927	N	0.021798	D	0.92061	0.7484	M	0.76002	2.32	0.80722	D	1	D	0.54964	0.969	P	0.52856	0.711	D	0.90951	0.4805	10	0.72032	D	0.01	.	2.8895	0.05671	0.3226:0.4438:0.1377:0.096	.	2398	P98164	LRP2_HUMAN	F	2398	ENSP00000263816:L2398F	ENSP00000263816:L2398F	L	-	3	2	LRP2	169771282	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	0.970000	0.29383	1.481000	0.48307	0.655000	0.94253	TTG	LRP2	-	NULL	ENSG00000081479		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	82	0	C	NM_004525		170063036	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	40.22	55	37	SNP	1.000	G	G	170063036	C	G	170063036	3	3	74	1	0	0	0	0	1	0	0	0	8991	825	29	5	6937	5	LRP2	2	170063036	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	17626929	170063036	73136337	24	19674											
ALS2	57679	genome.wustl.edu	37	chr2	202626143	202626143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagatgttctaccttttgcgGctttgtcactgggaaggcag	8	13	12	8	1	2	1	1	0	1	1	2	2	2	2	1	3	2	3	1	3	3	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:202626143G>T	ENST00000264276.6	-	4	946	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	ALS2_ENST00000467448.1_Missense_Mutation_p.P192T|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	192					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACCTTTTGCGGCTTTGTCACT	0.527																																																	0													86	91	89					2																	202626143		2086	4200	6286	SO:0001583	missense	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.574C>A	2.37:g.202626143G>T	ENSP00000264276:p.Pro192Thr		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.P192T	ENST00000264276.6	37	c.574	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584417	0.86748	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	D;D	0.99741	-6.6;-6.6	5.93	5.93	0.95920	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	H	0.95917	3.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	D	0.97066	0.9774	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	192;192;192;192	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	T	192	ENSP00000264276:P192T;ENSP00000429223:P192T	ENSP00000264276:P192T	P	-	1	0	ALS2	202334388	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.624000	0.98398	2.826000	0.97356	0.655000	0.94253	CCG	ALS2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000003393		0.527	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	-	0	67	0	G	NM_020919		202626143	-1	tier1	-	no_errors	ENST00000264276	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T	T	202626143	G	T	202626143	3	4	74	1	0	0	0	0	1	0	0	0	550	1203	42	3	4601	3	ALS2	2	202626143	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	32563107	202626143	40573230	25	19675											
NBEAL1	65065	genome.wustl.edu	37	chr2	204058577	204058577	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagccaaccaaaatagaCacttcaaccctaaacctgtt	17	7	4	13	0	1	2	1	0	0	2	1	2	1	2	4	0	4	1	4	0	8	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:204058577C>T	ENST00000449802.1	+	46	7227	c.6894C>T	c.(6892-6894)gaC>gaT	p.D2298D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2298										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCAAAATAGACACTTCAACCC	0.343																																																	0													158	158	158					2																	204058577		1870	4097	5967	SO:0001819	synonymous_variant	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6894C>T	2.37:g.204058577C>T			A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D2298	ENST00000449802.1	37	c.6894	CCDS46495.1	2																																																																																			NBEAL1	-	NULL	ENSG00000144426		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0	94	0	C			204058577	1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	silent	36.84	48	28	SNP	0.094	T	T	204058577	C	T	204058577	2	4	74	1	0	0	0	0	0	0	0	1	10226	477	17	3		3	NBEAL1	2	204058577	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1432434	204058577	39140796	26	19676											
VIL1	7429	genome.wustl.edu	37	chr2	219294100	219294100	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgaattggcatccccGaagctgatggaggtgatgaa	13	8	14	6	1	0	5	0	4	0	1	1	8	1	6	2	3	1	2	2	3	4	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:219294100G>T	ENST00000248444.5	+	7	748	c.660G>T	c.(658-660)ccG>ccT	p.P220P	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.P220P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	220	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCATCCCCGAAGCTGATGG	0.637																																																	0													77	76	76					2																	219294100		2203	4300	6503	SO:0001819	synonymous_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.660G>T	2.37:g.219294100G>T			B2R9A7|Q53S11|Q96AC8	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.P220	ENST00000248444.5	37	c.660	CCDS2417.1	2																																																																																			VIL1	-	smart_Villin/Gelsolin	ENSG00000127831		0.637	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3		0	44	0	G	NM_007127		219294100	1			no_errors	ENST00000248444	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.005	T	T	219294100	G	T	219294100	2	4	74	1	0	0	0	0	0	0	0	1	17213	1045	37	2		2	VIL1	2	219294100	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	15235523	219294100	23905273	27	19677											
ACCN4	55515	genome.wustl.edu	37	chr2	220396564	220396564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggggcatgggcagtGgcctggagatcatgctggac	7	6	20	8	0	1	1	1	0	0	1	1	3	1	2	1	7	1	4	1	7	0	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr2:220396564G>T	ENST00000347842.3	+	2	1062	c.1048G>T	c.(1048-1050)Ggc>Tgc	p.G350C	ASIC4_ENST00000358078.4_Missense_Mutation_p.G350C|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	350					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)	p.G350S(1)									CATGGGCAGTGGCCTGGAGAT	0.632																																																	1	Substitution - Missense(1)	prostate(1)											65	70	69					2																	220396564		2203	4300	6503	SO:0001583	missense	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1048G>T	2.37:g.220396564G>T	ENSP00000326627:p.Gly350Cys		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.G350C	ENST00000347842.3	37	c.1048	CCDS2442.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184862	0.78677	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.73047	-0.71;-0.71	3.07	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.85944	0.5815	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.981;0.999;0.999	D	0.89650	0.3869	10	0.87932	D	0	-4.9815	14.9848	0.71339	0.0:0.0:1.0:0.0	.	350;350;350	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	C	350	ENSP00000326627:G350C;ENSP00000350786:G350C	ENSP00000326627:G350C	G	+	1	0	ACCN4	220104808	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.556000	0.98127	2.043000	0.60533	0.561000	0.74099	GGC	ASIC4	-	pfam_Na+channel_ASC,prints_Na+channel_ASC	ENSG00000072182		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	HGNC	protein_coding	OTTHUMT00000130263.1		0	67	0	G	NM_018674		220396564	1			no_errors	ENST00000347842	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	220396564	G	T	220396564	3	4	74	1	0	0	0	0	1	0	0	0	131	1348	47	3	1054	3	ACCN4	2	220396564	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1102464	220396564	22802809	28	19678											
TGFBR2	7048	genome.wustl.edu	37	chr3	30715618	30715618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggaactgcaagatacatgGctccagaagtcctagaatcc	13	8	10	10	0	0	3	0	0	0	3	3	4	3	4	3	2	3	2	3	2	6	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:30715618G>A	ENST00000295754.5	+	5	1658	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	TGFBR2_ENST00000359013.4_Missense_Mutation_p.A451T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	426	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AAGATACATGGCTCCAGAAGT	0.453																																																	0			GRCh37	CM086983	TGFBR2	M							122	113	116					3																	30715618		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1276G>A	3.37:g.30715618G>A	ENSP00000295754:p.Ala426Thr		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.A451T	ENST00000295754.5	37	c.1351	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.832816	0.97003	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.97455	-4.39;-4.39	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99214	0.9727	H	0.98048	4.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.98730	1.0712	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	426;451	P37173;D2JYI1	TGFR2_HUMAN;.	T	426;451;256	ENSP00000295754:A426T;ENSP00000351905:A451T	ENSP00000295754:A426T	A	+	1	0	TGFBR2	30690622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GCT	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163513		0.453	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	87	0	G			30715618	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	34.41	61	32	SNP	1.000	A	A	30715618	G	A	30715618	3	1	74	1	0	0	0	0	1	0	0	0	15869	1203	42	3	1373	3	TGFBR2	3	30715618	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		30715618	167306812	29	19679											
KIF15	56992	genome.wustl.edu	37	chr3	44819651	44819651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcattgtggagtcttgCatgagcggttataatggtac	12	12	12	5	1	1	1	0	1	1	0	1	2	1	2	0	3	4	4	0	3	5	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:44819651C>T	ENST00000326047.4	+	4	440	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	97	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGGAGTCTTGCATGAGCGGTT	0.338																																																	0													302	277	285					3																	44819651		2203	4300	6503	SO:0001819	synonymous_variant	0			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"Kinesins"	17273	protein-coding gene	gene with protein product			"kinesin-like 7"	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.291C>T	3.37:g.44819651C>T			Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	NULL	p.A83V	ENST00000326047.4	37	c.248	CCDS33744.1	3																																																																																			KIF15	-	NULL	ENSG00000163808		0.338	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	-	0	77	0	C			44819651	1	tier1	-	no_errors	ENST00000438321	ensembl	human	known	74_37	missense	28.57	70	28	SNP	1.000	T	T	44819651	C	T	44819651	2	4	74	1	0	0	0	0	0	0	0	1	8304	718	25	3		3	KIF15	3	44819651	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	14104033	44819651	153202779	30	19680											
AMT	275	genome.wustl.edu	37	chr3	49457771	49457771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggtaaacagcgacagtGtcccctaggaccaaagtgga	12	7	12	10	2	0	0	0	0	0	0	1	3	1	2	3	3	2	2	3	3	4	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:49457771G>A	ENST00000273588.3	-	4	646	c.344C>T	c.(343-345)aCa>aTa	p.T115I	AMT_ENST00000458307.2_Intron|AMT_ENST00000395338.2_Missense_Mutation_p.T115I|AMT_ENST00000546031.1_Missense_Mutation_p.T18I|NICN1-AS1_ENST00000424915.1_RNA|AMT_ENST00000538581.1_Missense_Mutation_p.T59I|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	115					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CAGCGACAGTGTCCCCTAGGA	0.542																																																	0													92	88	89					3																	49457771		2203	4300	6503	SO:0001583	missense	0			D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"glycine cleavage system protein T"	238310	"aminomethyltransferase (glycine cleavage system protein T)"			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.344C>T	3.37:g.49457771G>A	ENSP00000273588:p.Thr115Ile		A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	pfam_GCV_T_N,pfam_GCV_T_C,pirsf_GcvT,tigrfam_GcvT	p.T115I	ENST00000273588.3	37	c.344	CCDS2797.1	3	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199612	0.58126	.	.	ENSG00000145020	ENST00000395338;ENST00000273588;ENST00000538581;ENST00000546031;ENST00000430521	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	5.49	4.61	0.57282	Glycine cleavage T-protein, N-terminal (1);	0.047256	0.85682	D	0.000000	T	0.76421	0.3985	M	0.71206	2.165	0.80722	D	1	B;B;B	0.29188	0.059;0.236;0.108	B;B;B	0.33339	0.079;0.162;0.162	T	0.76484	-0.2942	10	0.51188	T	0.08	-15.9297	11.3054	0.49332	0.0882:0.0:0.9118:0.0	.	59;115;115	B4DE61;E9PBG1;P48728	.;.;GCST_HUMAN	I	115;115;59;18;59	ENSP00000378747:T115I;ENSP00000273588:T115I;ENSP00000443200:T59I;ENSP00000440672:T18I;ENSP00000388068:T59I	ENSP00000273588:T115I	T	-	2	0	AMT	49432775	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	6.352000	0.73027	2.570000	0.86706	0.561000	0.74099	ACA	AMT	-	pfam_GCV_T_N,pirsf_GcvT,tigrfam_GcvT	ENSG00000145020		0.542	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMT	HGNC	protein_coding	OTTHUMT00000346216.2	-	0	63	0	G	NM_000481		49457771	-1	tier1	-	no_errors	ENST00000273588	ensembl	human	known	74_37	missense	40.00	45	30	SNP	1.000	A	A	49457771	G	A	49457771	3	1	74	1	0	0	0	0	1	0	0	0	589	1377	48	3	919	3	AMT	3	49457771	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	4638120	49457771	148564659	31	19681											
NFKBIZ	64332	genome.wustl.edu	37	chr3	101575938	101575938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcaaaagtggccgcacaGccctgcatttggcagctgaa	11	7	11	12	2	0	1	0	1	0	0	1	1	0	1	2	2	3	5	2	2	3	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:101575938G>T	ENST00000326172.5	+	10	1961	c.1846G>T	c.(1846-1848)Gcc>Tcc	p.A616S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A494S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A516S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	616	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TGGCCGCACAGCCCTGCATTT	0.453																																																	0													119	136	130					3																	101575938		2203	4300	6503	SO:0001583	missense	0			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1846G>T	3.37:g.101575938G>T	ENSP00000325663:p.Ala616Ser		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A616S	ENST00000326172.5	37	c.1846	CCDS2946.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243389	0.79912	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.70986	-0.53;-0.53;-0.41;-0.41	5.98	5.98	0.97165	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79997	0.4543	M	0.65320	2	0.46678	D	0.999154	P;P	0.49447	0.596;0.924	P;P	0.53689	0.472;0.732	T	0.79588	-0.1741	10	0.59425	D	0.04	-0.4597	20.452	0.99131	0.0:0.0:1.0:0.0	.	494;616	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	S	516;516;494;616	ENSP00000419800:A516S;ENSP00000377618:A516S;ENSP00000325593:A494S;ENSP00000325663:A616S	ENSP00000325593:A494S	A	+	1	0	NFKBIZ	103058628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.004000	0.70709	2.838000	0.97847	0.591000	0.81541	GCC	NFKBIZ	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144802		0.453	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1		0	59	0	G	NM_031419		101575938	1			no_errors	ENST00000326172	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	101575938	G	T	101575938	3	4	74	1	0	0	0	0	1	0	0	0	10422	971	34	3	1884	3	NFKBIZ	3	101575938	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	52118167	101575938	96446492	32	19682											
SLC15A2	6565	genome.wustl.edu	37	chr3	121616250	121616250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagctgtgctgatcctgtAtttcctgtatttcctgcact	6	17	7	11	0	0	1	0	1	0	0	3	1	3	1	3	0	4	5	3	0	3	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:121616250A>G	ENST00000489711.1	+	3	597	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.Y70C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	70					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTGATCCTGTATTTCCTGTAT	0.413																																																	0													124	123	123					3																	121616250		2203	4300	6503	SO:0001583	missense	0			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.209A>G	3.37:g.121616250A>G	ENSP00000417085:p.Tyr70Cys		A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.Y70C	ENST00000489711.1	37	c.209	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231615	0.79688	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605;ENST00000469013	T;T;T	0.59906	0.23;0.23;0.25	5.75	5.75	0.90469	Major facilitator superfamily domain, general substrate transporter (1);	0.128895	0.53938	D	0.000042	D	0.82669	0.5087	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87702	0.2561	10	0.87932	D	0	-10.9609	14.0184	0.64539	1.0:0.0:0.0:0.0	.	70;70	B4E2A7;Q16348	.;S15A2_HUMAN	C	70;63;70;8	ENSP00000417085:Y70C;ENSP00000295605:Y70C;ENSP00000418704:Y8C	ENSP00000295605:Y70C	Y	+	2	0	SLC15A2	123098940	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.817000	0.91985	2.201000	0.70794	0.533000	0.62120	TAT	SLC15A2	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	ENSG00000163406		0.413	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	-	0	46	0	A	NM_021082		121616250	1	tier1	-	no_errors	ENST00000489711	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	G	G	121616250	A	G	121616250	3	3	74	1	0	0	0	0	1	0	0	0	14444	449	16	4	219	4	SLC15A2	3	121616250	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	20040312	121616250	76406180	33	19683											
ATP2C1	27032	genome.wustl.edu	37	chr3	130716512	130716512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgcaactggaaagacaGcattttgactaaaaacttga	15	10	7	9	1	0	3	0	2	0	1	2	4	1	4	1	1	3	2	1	1	5	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:130716512G>A	ENST00000510168.1	+	25	2856	c.2306G>A	c.(2305-2307)aGc>aAc	p.S769N	ATP2C1_ENST00000507488.2_Missense_Mutation_p.S753N|ATP2C1_ENST00000422190.2_Missense_Mutation_p.S769N|ATP2C1_ENST00000533801.2_Missense_Mutation_p.S764N|ATP2C1_ENST00000504381.1_Missense_Mutation_p.S714N|ATP2C1_ENST00000428331.2_Missense_Mutation_p.S769N|ATP2C1_ENST00000359644.3_Missense_Mutation_p.S769N|ATP2C1_ENST00000513801.1_Missense_Mutation_p.S753N|ATP2C1_ENST00000504948.1_Missense_Mutation_p.S753N|ATP2C1_ENST00000505330.1_Missense_Mutation_p.S753N|ATP2C1_ENST00000508532.1_Missense_Mutation_p.S769N|ATP2C1_ENST00000393221.4_Missense_Mutation_p.S803N|ATP2C1_ENST00000328560.8_Missense_Mutation_p.S769N			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	769					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGAAAGACAGCATTTTGACT	0.348									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													154	158	157					3																	130716512		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2306G>A	3.37:g.130716512G>A	ENSP00000427461:p.Ser769Asn		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.S803N	ENST00000510168.1	37	c.2408	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.018873|4.018873	0.75275|0.75275	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000504612;ENST00000508660|ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89270	.|-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.73|5.73	5.73|5.73	0.89815|0.89815	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.037086	.|0.85682	.|D	.|0.000000	D|D	0.87997|0.87997	0.6319|0.6319	L|L	0.39566|0.39566	1.225|1.225	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.28208	.|0.169;0.203;0.03;0.169;0.03;0.066;0.082	.|B;B;B;B;B;B;B	.|0.36289	.|0.141;0.221;0.036;0.082;0.065;0.048;0.081	D|D	0.84720|0.84720	0.0739|0.0739	5|10	.|0.46703	.|T	.|0.11	.|.	19.8989|19.8989	0.96978|0.96978	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|803;764;803;769;803;769;769	.|G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.|.;.;.;.;.;.;AT2C1_HUMAN	T|N	723;287|753;714;753;803;764;769;769;753;753;769;769;769;769;768	.|ENSP00000423774:S753N;ENSP00000425320:S714N;ENSP00000421326:S753N;ENSP00000376914:S803N;ENSP00000432956:S764N;ENSP00000427461:S769N;ENSP00000424783:S769N;ENSP00000423330:S753N;ENSP00000422872:S753N;ENSP00000329664:S769N;ENSP00000395809:S769N;ENSP00000352665:S769N;ENSP00000402677:S769N	.|ENSP00000329664:S769N	A|S	+|+	1|2	0|0	ATP2C1|ATP2C1	132199202|132199202	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.931000|7.931000	0.87625|0.87625	2.706000|2.706000	0.92434|0.92434	0.555000|0.555000	0.69702|0.69702	GCA|AGC	ATP2C1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.348	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0	73	0	G	NM_001001486		130716512	1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	130716512	G	A	130716512	3	1	74	1	0	0	0	0	1	0	0	0	1144	971	34	3	2400	3	ATP2C1	3	130716512	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	9100262	130716512	67305918	34	19684											
NPHP3	27031	genome.wustl.edu	37	chr3	132432010	132432010	+	Frame_Shift_Del	DEL	T	T	-																															aaataaaataactaaagaacTtttctcaatttcccattttc																										TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:132432010delT	ENST00000337331.5	-	6	1164	c.1078delA	c.(1078-1080)agtfs	p.S361fs	NPHP3_ENST00000476742.1_5'UTR|NPHP3_ENST00000326682.8_Frame_Shift_Del_p.S361fs	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	361					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTAAAGAACTTTTCTCAATT	0.279																																																	0													36	38	37					3																	132432010		2197	4274	6471	SO:0001589	frameshift_variant	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1078delA	3.37:g.132432010delT	ENSP00000338766:p.Ser361fs		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Frame_Shift_Del	DEL	pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S360fs	ENST00000337331.5	37	c.1078	CCDS3078.1	3																																																																																			NPHP3	-	superfamily_P-loop_NTPase	ENSG00000113971		0.279	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2		0	157	0	T	NM_153240		132432010	-1	tier1		no_errors	ENST00000337331	ensembl	human	known	74_37	frame_shift_del	36.73	93	54	DEL	1.000	-	-	132432010	T	-	132432010	7	5	74	1	0	1	0	1	0	0	0	0	10619	1609	56	0	3002	0	NPHP3	3	132432010	Frame_Shift_Del	DEL	T	TCGA-L5-A88W-01A-11D-A351-09	1715498	132432010	65590420	35	19685											
CEP70	80321	genome.wustl.edu	37	chr3	138224144	138224144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcaaccccttacctttaagGatgtcagttgatctgcccac	9	12	7	13	0	3	1	2	1	1	0	3	2	3	2	4	1	3	1	4	1	3	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:138224144G>A	ENST00000264982.3	-	13	1480	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	CEP70_ENST00000542237.1_Missense_Mutation_p.S385F|CEP70_ENST00000489254.1_Missense_Mutation_p.S253F|CEP70_ENST00000481834.1_Missense_Mutation_p.S405F|CEP70_ENST00000484888.1_Missense_Mutation_p.S405F	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	405					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TACCTTTAAGGATGTCAGTTG	0.343																																																	0													112	114	114					3																	138224144		2203	4299	6502	SO:0001583	missense	0			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1214C>T	3.37:g.138224144G>A	ENSP00000264982:p.Ser405Phe		B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S405F	ENST00000264982.3	37	c.1214	CCDS3102.1	3	.	.	.	.	.	.	.	.	.	.	G	11.10	1.538628	0.27475	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5	5.55	3.75	0.43078	.	0.270493	0.36815	N	0.002387	T	0.47488	0.1448	M	0.64997	1.995	0.35933	D	0.832672	B;B;D;D	0.76494	0.019;0.019;0.999;0.999	B;B;D;D	0.85130	0.022;0.022;0.952;0.997	T	0.56902	-0.7902	10	0.72032	D	0.01	-0.8625	6.7614	0.23542	0.0875:0.0:0.7371:0.1753	.	253;385;405;405	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	F	405;385;253;405;387;405	ENSP00000264982:S405F;ENSP00000444128:S385F;ENSP00000417821:S253F;ENSP00000419231:S405F;ENSP00000419833:S387F;ENSP00000417465:S405F	ENSP00000264982:S405F	S	-	2	0	CEP70	139706834	1.000000	0.71417	0.774000	0.31636	0.005000	0.04900	3.830000	0.55768	0.887000	0.36136	-0.182000	0.12963	TCC	CEP70	-	NULL	ENSG00000114107		0.343	CEP70-001	KNOWN	basic|CCDS	protein_coding	CEP70	HGNC	protein_coding	OTTHUMT00000358001.1	-	0	159	0	G	NM_024491		138224144	-1	tier1	-	no_errors	ENST00000264982	ensembl	human	known	74_37	missense	32.23	82	39	SNP	0.785	A	A	138224144	G	A	138224144	3	1	74	1	0	0	0	0	1	0	0	0	3266	1174	41	3	603	3	CEP70	3	138224144	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	5792134	138224144	59798286	36	19686											
TFDP2	7029	genome.wustl.edu	37	chr3	141820587	141820587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacttacattttttgccGtcatgtcaaactgtattcta	12	17	4	8	1	3	0	2	0	1	0	3	0	3	0	1	0	4	1	1	0	6	8			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:141820587G>A	ENST00000489671.1	-	2	435	c.5C>T	c.(4-6)aCg>aTg	p.T2M	TFDP2_ENST00000317104.7_De_novo_Start_OutOfFrame|TFDP2_ENST00000499676.2_De_novo_Start_OutOfFrame|TFDP2_ENST00000464782.1_Intron|TFDP2_ENST00000467072.1_De_novo_Start_OutOfFrame			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	2					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						ATTTTTTGCCGTCATGTCAAA	0.274																																																	0																																										SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.5C>T	3.37:g.141820587G>A	ENSP00000420616:p.Thr2Met		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.T2M	ENST00000489671.1	37	c.5	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	G	6.648	0.487978	0.12641	.	.	ENSG00000114126	ENST00000489671;ENST00000467634	T;T	0.34072	1.86;1.38	4.71	0.224	0.15297	.	.	.	.	.	T	0.14399	0.0348	N	0.12182	0.205	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.31336	-0.9947	9	0.02654	T	1	.	7.0557	0.25097	0.504:0.0:0.496:0.0	.	2	Q14188	TFDP2_HUMAN	M	2	ENSP00000420616:T2M;ENSP00000419540:T2M	ENSP00000419540:T2M	T	-	2	0	TFDP2	143303277	0.999000	0.42202	0.999000	0.59377	0.998000	0.95712	0.444000	0.21661	0.102000	0.17638	0.561000	0.74099	ACG	TFDP2	-	pirsf_Transcrpt_fac_DP	ENSG00000114126		0.274	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	-	0	96	0	G	NM_006286		141820587	-1	tier1	-	no_errors	ENST00000489671	ensembl	human	known	74_37	missense	27.59	63	24	SNP	0.992	A	A	141820587	G	A	141820587	3	1	74	1	0	0	0	0	1	0	0	0	15845	1145	40	1	1492	1	TFDP2	3	141820587	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	3596443	141820587	56201843	37	19687											
KCNAB1	7881	genome.wustl.edu	37	chr3	155861167	155861167	+	Intron	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgtgttcatggaatttCgttgcaggaaaccaccagag	11	11	10	9	2	2	1	1	0	1	1	3	3	2	3	2	2	3	3	2	2	3	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:155861167C>A	ENST00000490337.1	+	1	339				KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.S67*	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATGGAATTTCGTTGCAGGAA	0.512																																																	0													108	104	105					3																	155861167		2203	4300	6503	SO:0001627	intron_variant	0			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"Potassium channels", "Aldo-keto reductases"	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.275+22492C>A	3.37:g.155861167C>A			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Nonsense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.S67*	ENST00000490337.1	37	c.200	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.340510	0.98224	.	.	ENSG00000169282	ENST00000471742	.	.	.	5.29	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.41890	D	0.990368	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2521	0.54603	0.0:0.9167:0.0:0.0833	.	.	.	.	X	67	.	ENSP00000418956:S67X	S	+	2	0	KCNAB1	157343861	0.994000	0.37717	0.009000	0.14445	0.929000	0.56500	3.535000	0.53575	1.360000	0.45960	-0.254000	0.11334	TCG	KCNAB1	-	NULL	ENSG00000169282		0.512	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1		0	59	0	C	NM_003471		155861167	1			no_errors	ENST00000471742	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.101	A	A	155861167	C	A	155861167	1	1	74	0	1	0	0	0	0	0	0	0	8036	893	31	2		2	KCNAB1	3	155861167	Intron	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	14040580	155861167	42161263	38	19688											
PIK3CA	5290	genome.wustl.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99	89	92					3																	178952085		1912	4130	6042	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>T	3.37:g.178952085A>T	ENSP00000263967:p.His1047Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047L	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	4.518	0.096038	0.08681	.	.	ENSG00000121879	ENST00000263967	T	0.78126	-1.15	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.00611	-1.325	0.80722	D	1	B	0.14438	0.01	B	0.12156	0.007	T	0.58053	-0.7704	10	0.02654	T	1	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	L	1047	ENSP00000263967:H1047L	ENSP00000263967:H1047L	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	53	0	A			178952085	1	tier1	rs121913279	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	T	T	178952085	A	T	178952085	3	4	74	1	0	0	0	0	1	0	0	0	11952	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	23090918	178952085	19070345	39	19689											
EIF4G1	1981	genome.wustl.edu	37	chr3	184044684	184044684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcatcagaagctgctcGcccagctactagtactttga	10	9	8	14	1	1	2	1	1	0	1	2	2	1	2	2	0	6	5	2	0	4	4	rs114237671		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr3:184044684G>T	ENST00000346169.2	+	23	3612	c.3341G>T	c.(3340-3342)cGc>cTc	p.R1114L	EIF2B5_ENST00000444495.1_Intron|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R918L|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R919L|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R1115L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R951L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1121L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1114L|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1028L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1121L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1075L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1027L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R950L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1121L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1074L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1114					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAAGCTGCTCGCCCAGCTACT	0.473																																																	0													127	130	129					3																	184044684		2203	4300	6503	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3341G>T	3.37:g.184044684G>T	ENSP00000316879:p.Arg1114Leu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R1121L	ENST00000346169.2	37	c.3362	CCDS3259.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.075704|5.075704	0.94000|0.94000	.|.	.|.	ENSG00000114867|ENSG00000114867	ENST00000448284|ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.04809	.|3.77;3.78;3.68;3.77;3.58;3.77;3.69;3.77;3.77;3.77;3.78;3.59;3.55;3.56	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.055180	.|0.85682	.|D	.|0.000000	T|T	0.23688|0.23688	0.0573|0.0573	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.91635	.|0.963;0.999;0.999	T|T	0.00073|0.00073	-1.2126|-1.2126	5|10	.|0.49607	.|T	.|0.09	-6.686|-6.686	18.0774|18.0774	0.89432|0.89432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1121;1115;1114	.|E9PFM1;D3DNT2;Q04637	.|.;.;IF4G1_HUMAN	S|L	168|1114;1074;1027;1121;950;1121;1028;1115;1114;1121;1075;951;919;918	.|ENSP00000316879:R1114L;ENSP00000391935:R1074L;ENSP00000376320:R1027L;ENSP00000371767:R1121L;ENSP00000317600:R950L;ENSP00000338020:R1121L;ENSP00000407682:R1028L;ENSP00000343450:R1115L;ENSP00000323737:R1114L;ENSP00000416255:R1121L;ENSP00000395974:R1075L;ENSP00000399858:R951L;ENSP00000411826:R919L;ENSP00000404754:R918L	.|ENSP00000323737:R1114L	A|R	+|+	1|2	0|0	EIF4G1|EIF4G1	185527378|185527378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	8.494000|8.494000	0.90477|0.90477	2.691000|2.691000	0.91804|0.91804	0.655000|0.655000	0.94253|0.94253	GCC|CGC	EIF4G1	-	NULL	ENSG00000114867		0.473	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0	87	0	G	NM_182917		184044684	1			no_errors	ENST00000352767	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	184044684	G	T	184044684	3	4	74	1	0	0	0	0	1	0	0	0	5052	1087	38	2	3423	2	EIF4G1	3	184044684	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	5092599	184044684	13977746	40	19690											
WHSC1	7468	genome.wustl.edu	37	chr4	1980408	1980409	+	Frame_Shift_Ins	INS	-	-	C																															attgtgacgtgtgtggcaaaINSccttcgacttcattttgcca																										TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:1980408_1980409insC	ENST00000382895.3	+	24	4301_4302	c.3870_3871insC	c.(3871-3873)cctfs	p.P1291fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.P1291fs|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.P639fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.P1291fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.P1291fs|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1291					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGTGTGGCAAACCTTCGACTTC	0.535			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0																																										SO:0001589	frameshift_variant	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"Zinc fingers, PHD-type"	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3872dupC	4.37:g.1980410_1980410dupC	ENSP00000372351:p.Pro1291fs		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom	p.S1291fs	ENST00000382895.3	37	c.3870_3871	CCDS33940.1	4																																																																																			WHSC1	-	NULL	ENSG00000109685		0.535	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2		0	89	0	-	NM_133330		1980409	1	tier1		no_errors	ENST00000382891	ensembl	human	known	74_37	frame_shift_ins	25.58	64	22	INS	0.978:0.992	C	C	1980409	-	C	1980408	7	5	74	1	0	1	1	0	0	0	0	0	17411	40	2	0	4028	0	WHSC1	4	1980408	Frame_Shift_Ins	INS	-	TCGA-L5-A88W-01A-11D-A351-09		1980408	189173868	41	19691											
HTT	3064	genome.wustl.edu	37	chr4	3208383	3208383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccaggcaattcagtctcGttgtgaaaacctttcaactg	11	12	7	11	1	3	1	2	1	1	0	5	1	4	1	2	1	2	2	2	1	4	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:3208383G>A	ENST00000355072.5	+	43	6024	c.5879G>A	c.(5878-5880)cGt>cAt	p.R1960H		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1960					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATTCAGTCTCGTTGTGAAAAC	0.463																																																	0													58	58	58					4																	3208383		1942	4133	6075	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5879G>A	4.37:g.3208383G>A	ENSP00000347184:p.Arg1960His		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.R1960H	ENST00000355072.5	37	c.5879	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798502	0.90538	.	.	ENSG00000197386	ENST00000355072	T	0.06849	3.25	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.30823	0.0777	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.00679	-1.1613	10	0.62326	D	0.03	.	19.6451	0.95773	0.0:0.0:1.0:0.0	.	1960	P42858	HD_HUMAN	H	1960	ENSP00000347184:R1960H	ENSP00000347184:R1960H	R	+	2	0	HTT	3178181	1.000000	0.71417	0.989000	0.46669	0.527000	0.34593	9.734000	0.98822	2.720000	0.93068	0.655000	0.94253	CGT	HTT	-	NULL	ENSG00000197386		0.463	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	38	0	G	NM_002111		3208383	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A	A	3208383	G	A	3208383	3	1	74	1	0	0	0	0	1	0	0	0	7484	1145	40	1	6049	1	HTT	4	3208383	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1227975	3208383	187945893	42	19692											
ADRA2C	152	genome.wustl.edu	37	chr4	3769693	3769693	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaagcacatcctcttcCgacggaggagaaggggcttc	9	9	11	12	2	1	1	0	0	1	1	4	4	3	2	3	4	1	2	3	4	2	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:3769693C>T	ENST00000330055.5	+	1	1569	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	454					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CATCCTCTTCCGACGGAGGAG	0.622																																					Esophageal Squamous(12;454 628 4517 14479)												0													22	26	25					4																	3769693		2120	4247	6367	SO:0001587	stop_gained	0			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"GPCR / Class A : Adrenoceptors : alpha"	283	protein-coding gene	gene with protein product		104250	"adrenergic, alpha-2C-, receptor"	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1360C>T	4.37:g.3769693C>T	ENSP00000386069:p.Arg454*		P35369|Q9HB49	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R454*	ENST00000330055.5	37	c.1360	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	C	38	6.933695	0.97944	.	.	ENSG00000184160	ENST00000330055	.	.	.	3.93	2.98	0.34508	.	.	.	.	.	.	.	.	.	.	.	0.40371	D	0.979346	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7845	0.34811	0.4203:0.5797:0.0:0.0	.	.	.	.	X	454	.	ENSP00000386069:R454X	R	+	1	2	ADRA2C	3739491	0.990000	0.36364	1.000000	0.80357	0.998000	0.95712	0.819000	0.27308	2.003000	0.58678	0.655000	0.94253	CGA	ADRA2C	-	prints_ADRA2C_rcpt	ENSG00000184160		0.622	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	-	0	66	0	C	NM_000683		3769693	1	tier1	-	no_errors	ENST00000330055	ensembl	human	known	74_37	nonsense	24.05	60	19	SNP	0.997	T	T	3769693	C	T	3769693	4	4	74	1	0	0	0	0	0	1	0	0	339	644	23	1	1362	1	ADRA2C	4	3769693	Nonsense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	561310	3769693	187384583	43	19693											
C4orf23	152992	genome.wustl.edu	37	chr4	8448312	8448312	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctcagtcatagcaaagaAgaatggtaagagctggacag	16	6	12	7	0	2	3	2	0	0	3	2	4	2	4	0	2	3	4	0	2	5	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:8448312A>G	ENST00000389737.4	+	2	729	c.729A>G	c.(727-729)gaA>gaG	p.E243E	TRMT44_ENST00000513449.2_Missense_Mutation_p.K12R	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	243					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATAGCAAAGAAGAATGGTAAG	0.423																																																	0																																										SO:0001819	synonymous_variant	0			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"tRNA methyltransferase 44 homolog (S. cerevisiae)"	614309	"chromosome 4 open reading frame 23", "methyltransferase like 19"	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.729A>G	4.37:g.8448312A>G			Q8NA95	Missense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.K12R	ENST00000389737.4	37	c.35	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	A	1.444	-0.566870	0.03910	.	.	ENSG00000155275	ENST00000513449	T	0.17213	2.29	4.91	-0.197	0.13228	.	.	.	.	.	T	0.07413	0.0187	.	.	.	0.09310	N	0.999997	B	0.11235	0.004	B	0.06405	0.002	T	0.42050	-0.9474	8	0.14656	T	0.56	-1.7963	3.8296	0.08868	0.3567:0.0:0.2869:0.3564	.	12	Q8IYL2-2	.	R	12	ENSP00000424643:K12R	ENSP00000424643:K12R	K	+	2	0	METTL19	8499212	0.593000	0.26840	0.001000	0.08648	0.001000	0.01503	-0.431000	0.06965	0.029000	0.15352	0.496000	0.49642	AAG	TRMT44	-	NULL	ENSG00000155275		0.423	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	-	0	146	0	A	NM_152544		8448312	1	tier1	-	no_errors	ENST00000513449	ensembl	human	known	74_37	missense	38.60	70	44	SNP	0.005	G	G	8448312	A	G	8448312	2	3	74	1	0	0	0	0	0	0	0	1	2263	69	3	4		4	C4orf23	4	8448312	Silent	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	4678619	8448312	182705964	44	19694											
EXOC1	55763	genome.wustl.edu	37	chr4	56762915	56762915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatggaagaagtaaaGatctcaaaaaagagtaaagt	22	6	10	3	0	1	3	1	0	1	3	2	4	1	4	0	2	0	3	0	2	10	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:56762915G>T	ENST00000381295.2	+	16	2334	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	EXOC1_ENST00000349598.6_Missense_Mutation_p.K647N|EXOC1_ENST00000346134.7_Missense_Mutation_p.K662N	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	662					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AAGAAGTAAAGATCTCAAAAA	0.343																																																	0													68	67	67					4																	56762915		2203	4300	6503	SO:0001583	missense	0			AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"SEC3-like 1 (S. cerevisiae)"	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1986G>T	4.37:g.56762915G>T	ENSP00000370695:p.Lys662Asn		Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	pfam_Exocyst_Exoc1/SEC3	p.K662N	ENST00000381295.2	37	c.1986	CCDS3502.1	4	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785466	0.70337	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.93	3.19	0.36642	.	0.041545	0.85682	D	0.000000	T	0.75525	0.3861	M	0.76838	2.35	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.77004	0.943;0.989	T	0.72510	-0.4271	9	0.41790	T	0.15	.	9.4859	0.38928	0.3192:0.0:0.6808:0.0	.	647;662	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	N	662;662;647	.	ENSP00000326514:K662N	K	+	3	2	EXOC1	56457672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.791000	0.55469	0.363000	0.24346	0.563000	0.77884	AAG	EXOC1	-	pfam_Exocyst_Exoc1/SEC3	ENSG00000090989		0.343	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXOC1	HGNC	protein_coding	OTTHUMT00000361799.1		0	65	0	G	NM_018261		56762915	1			no_errors	ENST00000346134	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	56762915	G	T	56762915	3	4	74	1	0	0	0	0	1	0	0	0	5317	933	33	3	2044	3	EXOC1	4	56762915	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	48314603	56762915	134391361	45	19695											
SHROOM3	57619	genome.wustl.edu	37	chr4	77357289	77357289	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggaaggtacatttatctGgaggcattcctggagggagg	11	9	16	5	0	1	0	0	0	1	0	2	4	2	4	1	7	1	2	1	7	4	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:77357289G>T	ENST00000296043.6	+	1	1037	c.84G>T	c.(82-84)ctG>ctT	p.L28L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	28	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACATTTATCTGGAGGCATTCC	0.488																																																	0													203	201	201					4																	77357289		2203	4300	6503	SO:0001819	synonymous_variant	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.84G>T	4.37:g.77357289G>T			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L28	ENST00000296043.6	37	c.84	CCDS3579.2	4																																																																																			SHROOM3	-	superfamily_PDZ,pfscan_PDZ	ENSG00000138771		0.488	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	-	0	55	0	G	NM_020859		77357289	1	tier1	-	no_errors	ENST00000296043	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	77357289	G	T	77357289	2	4	74	1	0	0	0	0	0	0	0	1	14340	1335	47	3		3	SHROOM3	4	77357289	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	20594374	77357289	113796987	46	19696											
POU4F2	5458	genome.wustl.edu	37	chr4	147561949	147561949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagaatgaaatattccGccggcatttagaagactctt	16	10	8	7	2	1	5	0	1	1	4	2	5	2	5	2	1	0	1	2	1	7	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:147561949G>T	ENST00000281321.3	+	2	1467	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	407					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GAAATATTCCGCCGGCATTTA	0.512																																																	0													30	37	34					4																	147561949		2184	4293	6477	SO:0001583	missense	0			U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"Homeoboxes / POU class"	9219	protein-coding gene	gene with protein product		113725	"POU domain, class 4, transcription factor 2", "POU domain class 4, transcription factor 2"	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1219G>T	4.37:g.147561949G>T	ENSP00000281321:p.Ala407Ser		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A407S	ENST00000281321.3	37	c.1219	CCDS34074.1	4	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909165	0.72868	.	.	ENSG00000151615	ENST00000281321	D	0.85411	-1.98	5.03	5.03	0.67393	Homeobox (1);	0.051311	0.85682	D	0.000000	D	0.86318	0.5904	N	0.14661	0.345	0.80722	D	1	D	0.71674	0.998	D	0.70016	0.967	D	0.88917	0.3363	10	0.72032	D	0.01	.	18.55	0.91060	0.0:0.0:1.0:0.0	.	407	Q12837	PO4F2_HUMAN	S	407	ENSP00000281321:A407S	ENSP00000281321:A407S	A	+	1	0	POU4F2	147781399	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.597000	0.98273	2.630000	0.89119	0.561000	0.74099	GCC	POU4F2	-	smart_Homeobox_dom	ENSG00000151615		0.512	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	HGNC	protein_coding	OTTHUMT00000367020.1		0	24	0	G	NM_004575		147561949	1			no_errors	ENST00000281321	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	147561949	G	T	147561949	3	4	74	1	0	0	0	0	1	0	0	0	12318	1087	38	2	1225	2	POU4F2	4	147561949	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	70204660	147561949	43592327	47	19697											
TTC29	83894	genome.wustl.edu	37	chr4	147824756	147824756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttctttcttcccacagtCaattttgatcagctgagcaa	9	14	7	11	0	4	2	2	2	2	0	5	2	5	2	1	1	2	3	1	1	2	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:147824756C>T	ENST00000325106.4	-	6	752	c.526G>A	c.(526-528)Gac>Aac	p.D176N	TTC29_ENST00000398886.4_Missense_Mutation_p.D202N|TTC29_ENST00000513335.1_Missense_Mutation_p.D202N	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	176										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTCCCACAGTCAATTTTGATC	0.448																																																	0													100	97	98					4																	147824756		1899	4120	6019	SO:0001583	missense	0			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"Tetratricopeptide (TTC) repeat domain containing"	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.526G>A	4.37:g.147824756C>T	ENSP00000316740:p.Asp176Asn		A4GU95|Q9BXB6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.D202N	ENST00000325106.4	37	c.604	CCDS47141.1	4	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367690	0.82463	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.62	5.62	0.85841	.	0.051572	0.85682	D	0.000000	T	0.44286	0.1286	M	0.78049	2.395	0.45172	D	0.998188	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.14783	-1.0460	10	0.30854	T	0.27	-27.4212	17.8705	0.88810	0.0:1.0:0.0:0.0	.	176;202;176	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	N	202;202;176;176;176	ENSP00000423505:D202N;ENSP00000381861:D202N;ENSP00000316740:D176N;ENSP00000425778:D176N	ENSP00000316740:D176N	D	-	1	0	TTC29	148044206	1.000000	0.71417	0.993000	0.49108	0.639000	0.38242	5.239000	0.65371	2.648000	0.89879	0.650000	0.86243	GAC	TTC29	-	NULL	ENSG00000137473		0.448	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC29	HGNC	protein_coding		-	0	103	0	C	NM_031956		147824756	-1	tier1	-	no_errors	ENST00000398886	ensembl	human	known	74_37	missense	24.05	60	19	SNP	1.000	T	T	147824756	C	T	147824756	3	4	74	1	0	0	0	0	1	0	0	0	16745	826	29	3	933	3	TTC29	4	147824756	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	262807	147824756	43329520	48	19698											
LRBA	987	genome.wustl.edu	37	chr4	151604720	151604720	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctcactgcagaatttccCcaggctccatgcttgtctgt	7	13	7	14	0	2	1	1	0	1	1	4	1	4	1	4	1	3	3	4	1	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:151604720C>T	ENST00000357115.3	-	37	6147	c.5904G>A	c.(5902-5904)tgG>tgA	p.W1968*	LRBA_ENST00000507224.1_Nonsense_Mutation_p.W1968*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.W1968*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.W1968*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1968						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAGAATTTCCCCAGGCTCCAT	0.398																																																	0													225	210	215					4																	151604720		2203	4300	6503	SO:0001587	stop_gained	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5904G>A	4.37:g.151604720C>T	ENSP00000349629:p.Trp1968*		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.W1968*	ENST00000357115.3	37	c.5904	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.786289|15.786289	0.99845|0.99845	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|.	.|.	.|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.46983|.	0.1421|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37911|.	-0.9685|.	3|.	.|0.02654	.|T	.|1	.|.	19.0671|19.0671	0.93116|0.93116	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	621|1968	.|.	.|ENSP00000349629:W1968X	G|W	-|-	2|3	0|0	LRBA|LRBA	151824170|151824170	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.776000|7.776000	0.85560|0.85560	2.589000|2.589000	0.87451|0.87451	0.585000|0.585000	0.79938|0.79938	GGG|TGG	LRBA	-	pfam_DUF1088	ENSG00000198589		0.398	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0	90	0	C			151604720	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	nonsense	31.51	50	23	SNP	1.000	T	T	151604720	C	T	151604720	4	4	74	1	0	0	0	0	0	1	0	0	8966	624	22	3	2775	3	LRBA	4	151604720	Nonsense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	3779964	151604720	39549556	49	19699											
PET112L	5188	genome.wustl.edu	37	chr4	152601009	152601009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgctgtccagcaggtCaagaagctcagcgagtgcag	9	9	13	10	1	3	1	2	0	1	1	4	2	4	1	1	1	5	5	1	1	2	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:152601009C>A	ENST00000515812.1	-	10	1259	c.1243G>T	c.(1243-1245)Gac>Tac	p.D415Y	PET112_ENST00000263985.6_Missense_Mutation_p.D456Y|RP11-164P12.3_ENST00000514269.1_RNA|PET112_ENST00000507592.1_5'UTR																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						TCCAGCAGGTCAAGAAGCTCA	0.493																																																	0													183	182	182					4																	152601009		2203	4300	6503	SO:0001583	missense	0																														ENST00000515812.1:c.1243G>T	4.37:g.152601009C>A	ENSP00000426859:p.Asp415Tyr			Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	p.D456Y	ENST00000515812.1	37	c.1366		4	.	.	.	.	.	.	.	.	.	.	C	14.67	2.604259	0.46423	.	.	ENSG00000059691	ENST00000263985;ENST00000515812	T;T	0.47177	0.86;0.85	5.69	0.199	0.15175	Asn/Gln amidotransferase (2);Aspartyl/glutamyl-tRNA amidotransferase subunit B-related (1);	0.552403	0.19777	N	0.106319	T	0.47451	0.1446	M	0.67569	2.06	0.41529	D	0.988446	P	0.43938	0.822	P	0.45377	0.478	T	0.46898	-0.9158	10	0.72032	D	0.01	-18.8672	8.683	0.34221	0.0:0.3116:0.0:0.6884	.	456	O75879	GATB_HUMAN	Y	456;415	ENSP00000263985:D456Y;ENSP00000426859:D415Y	ENSP00000263985:D456Y	D	-	1	0	PET112	152820459	0.233000	0.23772	0.545000	0.28153	0.577000	0.36160	0.357000	0.20199	-0.191000	0.10448	0.650000	0.86243	GAC	PET112	-	pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu	ENSG00000059691		0.493	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	-	0	97	0	C			152601009	-1	tier1	-	no_errors	ENST00000263985	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.695	A	A	152601009	C	A	152601009	3	1	74	1	0	0	0	0	1	0	0	0	11773	826	29	3	319	3	PET112L	4	152601009	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	996289	152601009	38553267	50	19700											
DDX60	55601	genome.wustl.edu	37	chr4	169197311	169197311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcacctgaacagctataCttaaatctttcgtggtttta	11	16	5	9	1	3	1	2	1	1	0	4	1	3	1	1	1	3	2	1	1	6	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr4:169197311C>A	ENST00000393743.3	-	15	2291	c.2000G>T	c.(1999-2001)aGt>aTt	p.S667I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	667					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AACAGCTATACTTAAATCTTT	0.318																																																	0													97	96	96					4																	169197311		2203	4300	6503	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2000G>T	4.37:g.169197311C>A	ENSP00000377344:p.Ser667Ile		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S667I	ENST00000393743.3	37	c.2000	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	14.72	2.620630	0.46736	.	.	ENSG00000137628	ENST00000393743	T	0.19394	2.15	5.15	-1.47	0.08772	.	0.583700	0.17391	N	0.175924	T	0.32912	0.0845	M	0.66939	2.045	0.09310	N	1	D	0.60160	0.987	P	0.57960	0.83	T	0.23297	-1.0192	10	0.30854	T	0.27	.	11.7324	0.51746	0.0:0.3727:0.0:0.6273	.	667	Q8IY21	DDX60_HUMAN	I	667	ENSP00000377344:S667I	ENSP00000377344:S667I	S	-	2	0	DDX60	169433886	0.000000	0.05858	0.129000	0.21949	0.839000	0.47603	-1.519000	0.02243	-0.331000	0.08501	0.557000	0.71058	AGT	DDX60	-	NULL	ENSG00000137628		0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	-	0	58	0	C	NM_017631		169197311	-1	tier1	-	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	31.37	35	16	SNP	0.083	A	A	169197311	C	A	169197311	3	1	74	1	0	0	0	0	1	0	0	0	4387	565	20	3	3234	3	DDX60	4	169197311	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	16596302	169197311	21956965	51	19701											
KIAA0947	23379	genome.wustl.edu	37	chr5	5463973	5463973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaactttgataagagtcGtttgcgaaatagacccgtta	13	11	8	9	3	0	3	0	1	0	2	1	4	0	3	2	0	2	2	2	0	5	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:5463973G>A	ENST00000296564.7	+	13	4748	c.4526G>A	c.(4525-4527)cGt>cAt	p.R1509H		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1509					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GATAAGAGTCGTTTGCGAAAT	0.423																																																	0													51	49	50					5																	5463973		1909	4116	6025	SO:0001583	missense	0																														ENST00000296564.7:c.4526G>A	5.37:g.5463973G>A	ENSP00000296564:p.Arg1509His		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.R1509H	ENST00000296564.7	37	c.4526	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940503	0.73557	.	.	ENSG00000164151	ENST00000296564	T	0.12255	2.7	5.38	4.48	0.54585	.	.	.	.	.	T	0.20981	0.0505	L	0.27053	0.805	0.20873	N	0.999834	D	0.89917	1.0	D	0.71414	0.973	T	0.12319	-1.0552	9	0.15499	T	0.54	-10.3331	12.2513	0.54599	0.0:0.1697:0.8303:0.0	.	1509	Q9Y2F5	K0947_HUMAN	H	1509	ENSP00000296564:R1509H	ENSP00000296564:R1509H	R	+	2	0	KIAA0947	5516973	0.000000	0.05858	0.593000	0.28771	0.986000	0.74619	0.608000	0.24223	2.524000	0.85096	0.460000	0.39030	CGT	KIAA0947	-	NULL	ENSG00000164151		0.423	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	70	0	G			5463973	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.307	A	A	5463973	G	A	5463973	3	1	74	1	0	0	0	0	1	0	0	0	8229	1145	40	1	4576	1	KIAA0947	5	5463973	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		5463973	175451287	52	19702											
NIPBL	25836	genome.wustl.edu	37	chr5	37045679	37045679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgattttgatctggaaGattttaaaggcaacagcaag	14	14	9	4	0	1	3	0	2	1	1	1	4	1	4	0	2	2	2	0	2	5	6	rs147054690	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:37045679G>T	ENST00000282516.8	+	37	6977	c.6478G>T	c.(6478-6480)Gat>Tat	p.D2160Y	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2160Y	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2160					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATCTGGAAGATTTTAAAGG	0.388																																																	0								G	TYR/ASP,TYR/ASP	2,4404	4.2+/-10.8	0,2,2201	188	192	191		6478,6478	5.5	1	5	dbSNP_134	191	0,8600		0,0,4300	no	missense,missense	NIPBL	NM_015384.4,NM_133433.3	160,160	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	benign,benign	2160/2698,2160/2805	37045679	2,13004	2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6478G>T	5.37:g.37045679G>T	ENSP00000282516:p.Asp2160Tyr		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D2160Y	ENST00000282516.8	37	c.6478	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682948	0.68157	4.54E-4	0.0	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93859	-3.3;-3.3	5.52	5.52	0.82312	Armadillo-type fold (1);	0.101382	0.64402	D	0.000003	D	0.92244	0.7540	L	0.42245	1.32	0.80722	D	1	P;P	0.44380	0.744;0.834	B;B	0.43889	0.252;0.435	D	0.92663	0.6143	10	0.62326	D	0.03	-13.631	19.7999	0.96502	0.0:0.0:1.0:0.0	.	2160;2160	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	Y	2160	ENSP00000282516:D2160Y;ENSP00000406266:D2160Y	ENSP00000282516:D2160Y	D	+	1	0	NIPBL	37081436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.550000	0.82173	2.753000	0.94483	0.557000	0.71058	GAT	NIPBL	-	superfamily_ARM-type_fold	ENSG00000164190		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	134	0	G	NM_015384		37045679	1	tier1	rs147054690	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	T	T	37045679	G	T	37045679	3	4	74	1	0	0	0	0	1	0	0	0	10467	942	33	3	6620	3	NIPBL	5	37045679	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	31581706	37045679	143869581	53	19703											
UBE2D2	7322	genome.wustl.edu	37	chr5	139003036	139003036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctcggatctacaaaacaGatagagaaaagtaagtatgg	17	9	10	5	1	1	2	0	0	1	2	2	4	1	3	0	2	3	3	0	2	8	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:139003036G>C	ENST00000398733.3	+	6	1014	c.388G>C	c.(388-390)Gat>Cat	p.D130H	UBE2D2_ENST00000505548.1_Missense_Mutation_p.D101H|UBE2D2_ENST00000511725.1_Missense_Mutation_p.D101H|UBE2D2_ENST00000253815.2_Missense_Mutation_p.D101H	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	130					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTACAAAACAGATAGAGAAAA	0.403																																																	0													164	147	152					5																	139003036		1904	4154	6058	SO:0001583	missense	0			L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"Ubiquitin-conjugating enzymes E2"	12475	protein-coding gene	gene with protein product		602962	"ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)", "ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.388G>C	5.37:g.139003036G>C	ENSP00000381717:p.Asp130His		D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.D130H	ENST00000398733.3	37	c.388	CCDS43369.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278281	0.80692	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000398734;ENST00000505548	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	6.01	6.01	0.97437	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.81682	2.555	0.80722	D	1	B	0.24576	0.106	B	0.29942	0.109	T	0.77370	-0.2613	10	0.87932	D	0	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	130	P62837	UB2D2_HUMAN	H	101;130;101;130;101	ENSP00000429613:D101H;ENSP00000381717:D130H;ENSP00000253815:D101H;ENSP00000381718:D130H;ENSP00000424941:D101H	ENSP00000253815:D101H	D	+	1	0	UBE2D2	138983220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.866000	0.99616	2.850000	0.98022	0.655000	0.94253	GAT	UBE2D2	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000131508		0.403	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D2	HGNC	protein_coding	OTTHUMT00000372454.3	-	0	82	0	G	NM_181838		139003036	1	tier1	-	no_errors	ENST00000398733	ensembl	human	known	74_37	missense	43.82	50	39	SNP	1.000	C	C	139003036	G	C	139003036	3	2	74	1	0	0	0	0	1	0	0	0	16898	942	33	5	410	5	UBE2D2	5	139003036	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	101957357	139003036	41912224	54	19704											
PCDHA4	56144	genome.wustl.edu	37	chr5	140187662	140187662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagtttcacatagatcCaattactggacaaattattg	15	13	5	8	0	1	1	1	0	0	1	3	2	3	2	2	1	1	1	2	1	6	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:140187662C>T	ENST00000530339.1	+	1	890	c.890C>T	c.(889-891)cCa>cTa	p.P297L	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P297L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P297L|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	297	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACATAGATCCAATTACTGGA	0.353																																																	0													73	79	77					5																	140187662		2203	4300	6503	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.890C>T	5.37:g.140187662C>T	ENSP00000435300:p.Pro297Leu		O75285|Q2M253	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P297L	ENST00000530339.1	37	c.890	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	8.395	0.840721	0.16891	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.55234	0.53;0.53;0.53	4.34	2.51	0.30379	Cadherin (4);Cadherin-like (1);	0.683693	0.11935	N	0.515338	T	0.54159	0.1841	M	0.84511	2.7	0.09310	N	1	B;B;B	0.18741	0.009;0.03;0.03	B;B;B	0.25884	0.029;0.064;0.044	T	0.55661	-0.8106	10	0.66056	D	0.02	.	3.8322	0.08879	0.274:0.5037:0.1382:0.0842	.	297;297;297	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	297	ENSP00000423470:P297L;ENSP00000349344:P297L;ENSP00000435300:P297L	ENSP00000349344:P297L	P	+	2	0	PCDHA4	140167846	0.000000	0.05858	0.016000	0.15963	0.969000	0.65631	-1.136000	0.03222	0.384000	0.24942	0.467000	0.42956	CCA	PCDHA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204967		0.353	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	HGNC	protein_coding	OTTHUMT00000372864.2	-	0	86	0	C	NM_018907		140187662	1	tier1	-	no_errors	ENST00000530339	ensembl	human	known	74_37	missense	22.64	41	12	SNP	0.006	T	T	140187662	C	T	140187662	3	4	74	1	0	0	0	0	1	0	0	0	11565	594	21	3	892	3	PCDHA4	5	140187662	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1184626	140187662	40727598	55	19705											
TAF7	6879	genome.wustl.edu	37	chr5	140699108	140699108	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcatctgtactcagcaaTcgtttcacttctttttcaac	9	16	4	12	1	6	0	4	0	2	0	7	0	6	0	0	0	4	4	0	0	3	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:140699108T>C	ENST00000313368.5	-	1	1222	c.504A>G	c.(502-504)cgA>cgG	p.R168R		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	168					DNA-templated transcription, initiation (GO:0006352)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of histone acetylation (GO:0035067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermine transport (GO:0000296)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	histone acetyltransferase binding (GO:0035035)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|vitamin D receptor binding (GO:0042809)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCAGCAATCGTTTCACTT	0.408																																																	0													118	118	118					5																	140699108		2203	4300	6503	SO:0001819	synonymous_variant	0			AF349038	CCDS4259.1	5q31	2008-02-05	2002-08-29	2001-12-07	ENSG00000178913	ENSG00000178913			11541	protein-coding gene	gene with protein product		600573	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, F, 55kD"	TAF2F		7824954	Standard	NM_005642		Approved	TAFII55	uc003ljg.3	Q15545	OTTHUMG00000129628	ENST00000313368.5:c.504A>G	5.37:g.140699108T>C			B2RBV9|Q13036	Silent	SNP	pfam_TAFII55_prot_cons_reg	p.R168	ENST00000313368.5	37	c.504	CCDS4259.1	5																																																																																			TAF7	-	pfam_TAFII55_prot_cons_reg	ENSG00000178913		0.408	TAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF7	HGNC	protein_coding	OTTHUMT00000251823.2	-	0	35	0	T	NM_005642		140699108	-1	tier1	-	no_errors	ENST00000313368	ensembl	human	known	74_37	silent	31.03	20	9	SNP	0.177	C	C	140699108	T	C	140699108	2	2	74	1	0	0	0	0	0	0	0	1	15579	1422	50	4		4	TAF7	5	140699108	Silent	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	511446	140699108	40216152	56	19706											
ITK	3702	genome.wustl.edu	37	chr5	156649947	156649947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaatgatcctcaggaactCgcactgcggcgcaacgaaga	13	5	10	13	4	1	2	1	1	0	1	3	4	2	3	2	2	3	2	2	2	4	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:156649947C>T	ENST00000422843.3	+	6	722	c.570C>T	c.(568-570)ctC>ctT	p.L190L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	190	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTCAGGAACTCGCACTGCGGC	0.502			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													126	117	120					5																	156649947		2203	4300	6503	SO:0001819	synonymous_variant	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.570C>T	5.37:g.156649947C>T			B2R752|Q32ML7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L190	ENST00000422843.3	37	c.570	CCDS4336.1	5																																																																																			ITK	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000113263		0.502	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	77	0	C			156649947	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	silent	31.82	45	21	SNP	0.001	T	T	156649947	C	T	156649947	2	4	74	1	0	0	0	0	0	0	0	1	7936	871	31	1		1	ITK	5	156649947	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	15950839	156649947	24265313	57	19707											
WWC1	23286	genome.wustl.edu	37	chr5	167826550	167826550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgagctgcagttcaaagagCgtggctttcagaccctgaag	11	8	12	10	2	2	3	2	1	0	2	2	4	2	3	1	1	3	4	1	1	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:167826550C>A	ENST00000265293.4	+	5	1070	c.568C>A	c.(568-570)Cgt>Agt	p.R190S	WWC1_ENST00000521089.1_Missense_Mutation_p.R190S	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	190					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GTTCAAAGAGCGTGGCTTTCA	0.582																																																	0													101	89	93					5																	167826550		2203	4300	6503	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.568C>A	5.37:g.167826550C>A	ENSP00000265293:p.Arg190Ser		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.R190S	ENST00000265293.4	37	c.568	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.04|16.04	3.009935|3.009935	0.54361|0.54361	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895|ENST00000265293;ENST00000521089	.|T;T	.|0.05139	.|3.5;3.49	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	.|0.741562	.|0.12632	.|N	.|0.452094	T|T	0.07638|0.07638	0.0192|0.0192	L|L	0.27053|0.27053	0.805|0.805	0.31481|0.31481	N|N	0.667234|0.667234	.|B;B;B	.|0.25312	.|0.123;0.022;0.037	.|B;B;B	.|0.28011	.|0.085;0.01;0.025	T|T	0.07347|0.07347	-1.0777|-1.0777	5|10	.|0.52906	.|T	.|0.07	.|.	15.7065|15.7065	0.77588|0.77588	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|190;96;190	.|Q8IX03-2;B3KX05;Q8IX03	.|.;.;KIBRA_HUMAN	E|S	151|190	.|ENSP00000265293:R190S;ENSP00000427772:R190S	.|ENSP00000265293:R190S	A|R	+|+	2|1	0|0	WWC1|WWC1	167759128|167759128	0.858000|0.858000	0.29795|0.29795	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	1.461000|1.461000	0.35255|0.35255	2.415000|2.415000	0.81967|0.81967	0.563000|0.563000	0.77884|0.77884	GCG|CGT	WWC1	-	NULL	ENSG00000113645		0.582	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2		0	39	0	C	NM_015238		167826550	1			no_errors	ENST00000265293	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.999	A	A	167826550	C	A	167826550	3	1	74	1	0	0	0	0	1	0	0	0	17460	768	27	2	586	2	WWC1	5	167826550	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	11176603	167826550	13088710	58	19708											
NKX2-5	1482	genome.wustl.edu	37	chr5	172661786	172661786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctagggtccttggctgggtCggggtcgctgtaggcacgtg	3	11	18	9	3	1	0	0	0	1	0	4	0	2	0	1	6	0	4	1	6	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:172661786C>T	ENST00000329198.4	-	1	574	c.301G>A	c.(301-303)Gac>Aac	p.D101N	NKX2-5_ENST00000521848.1_Missense_Mutation_p.D101N|NKX2-5_ENST00000424406.2_Missense_Mutation_p.D101N	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	101	Ala/Pro-rich.				adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTGGCTGGGTCGGGGTCGCTG	0.657																																					Esophageal Squamous(72;810 1219 2387 13420 44943)												0													25	29	28					5																	172661786		2202	4300	6502	SO:0001583	missense	0			AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.301G>A	5.37:g.172661786C>T	ENSP00000327758:p.Asp101Asn		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.D101N	ENST00000329198.4	37	c.301	CCDS4387.1	5	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723284	0.68959	.	.	ENSG00000183072	ENST00000329198;ENST00000424406;ENST00000521848;ENST00000517440	D;D;D;D	0.92545	-2.69;-2.93;-3.06;-3.03	5.01	5.01	0.66863	.	0.847687	0.10147	N	0.710138	D	0.93713	0.7991	L	0.50333	1.59	0.58432	D	0.999993	D;D;P	0.67145	0.996;0.969;0.649	P;P;B	0.57009	0.811;0.564;0.112	D	0.89551	0.3799	10	0.18276	T	0.48	.	18.6833	0.91554	0.0:1.0:0.0:0.0	.	101;101;101	B4DNB6;E5RH49;P52952	.;.;NKX25_HUMAN	N	101	ENSP00000327758:D101N;ENSP00000395378:D101N;ENSP00000427906:D101N;ENSP00000429905:D101N	ENSP00000327758:D101N	D	-	1	0	NKX2-5	172594392	1.000000	0.71417	0.884000	0.34674	0.121000	0.20230	3.974000	0.56852	2.478000	0.83669	0.462000	0.41574	GAC	NKX2-5	-	NULL	ENSG00000183072		0.657	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	HGNC	protein_coding	OTTHUMT00000252942.2	-	0	91	0	C			172661786	-1	tier1	-	no_errors	ENST00000329198	ensembl	human	known	74_37	missense	26.74	63	23	SNP	1.000	T	T	172661786	C	T	172661786	3	4	74	1	0	0	0	0	1	0	0	0	10492	884	31	1	816	1	NKX2-5	5	172661786	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	4835236	172661786	8253474	59	19709											
LMAN2	10960	genome.wustl.edu	37	chr5	176761300	176761300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacctttgggcgacttgaGgaagttgacgctgggctcga	7	9	15	10	4	0	2	0	2	0	0	1	5	0	3	1	3	0	4	1	3	1	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:176761300G>A	ENST00000303127.7	-	7	1099	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	LMAN2_ENST00000515209.1_Missense_Mutation_p.L299F	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	299					positive regulation of phagocytosis (GO:0050766)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|heat shock protein binding (GO:0031072)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGACTTGAGGAAGTTGACG	0.627																																																	0													113	85	95					5																	176761300		2203	4300	6503	SO:0001583	missense	0			U10362	CCDS4417.1	5q35	2008-02-05		2003-07-04	ENSG00000169223	ENSG00000169223			16986	protein-coding gene	gene with protein product		609551	"chromosome 5 open reading frame 8"	C5orf8		12609988	Standard	NM_006816		Approved	GP36B, VIP36	uc003mge.3	Q12907	OTTHUMG00000130860	ENST00000303127.7:c.895C>T	5.37:g.176761300G>A	ENSP00000303366:p.Leu299Phe		Q53HH1	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.L299F	ENST00000303127.7	37	c.895	CCDS4417.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.78|17.78	3.472397|3.472397	0.63737|0.63737	.|.	.|.	ENSG00000169223|ENSG00000169223	ENST00000303127;ENST00000539488;ENST00000515209|ENST00000514458	T;T|T	0.66099|0.70399	-0.11;-0.19|-0.48	5.53|5.53	4.67|4.67	0.58626|0.58626	.|.	0.253027|.	0.40222|.	N|.	0.001159|.	T|T	0.66781|0.66781	0.2824|0.2824	N|N	0.21508|0.21508	0.67|0.67	0.80722|0.80722	D|D	1|1	D;B|.	0.63046|.	0.992;0.002|.	P;B|.	0.53912|.	0.737;0.002|.	T|T	0.70828|0.70828	-0.4766|-0.4766	10|7	0.07990|0.72032	T|D	0.79|0.01	-24.1809|-24.1809	13.8171|13.8171	0.63299|0.63299	0.0742:0.0:0.9258:0.0|0.0742:0.0:0.9258:0.0	.|.	299;299|.	Q12907;D6RBV2|.	LMAN2_HUMAN;.|.	F|L	299;228;299|184	ENSP00000303366:L299F;ENSP00000423998:L299F|ENSP00000424132:P184L	ENSP00000303366:L299F|ENSP00000424132:P184L	L|P	-|-	1|2	0|0	LMAN2|LMAN2	176693906|176693906	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.894000|0.894000	0.52154|0.52154	5.751000|5.751000	0.68720|0.68720	1.337000|1.337000	0.45525|0.45525	0.563000|0.563000	0.77884|0.77884	CTC|CCT	LMAN2	-	NULL	ENSG00000169223		0.627	LMAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN2	HGNC	protein_coding	OTTHUMT00000253434.1	-	0	66	0	G	NM_006816		176761300	-1	tier1	-	no_errors	ENST00000303127	ensembl	human	known	74_37	missense	40.58	41	28	SNP	1.000	A	A	176761300	G	A	176761300	3	1	74	1	0	0	0	0	1	0	0	0	8868	1000	35	3	183	3	LMAN2	5	176761300	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	4099514	176761300	4153960	60	19710											
ZNF354C	30832	genome.wustl.edu	37	chr5	178506868	178506868	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggaaaggccttcagcCagtattcatttttaaccgaa	12	12	9	8	1	2	0	2	0	0	0	2	2	2	1	3	2	2	1	3	2	4	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr5:178506868C>T	ENST00000315475.6	+	5	1741	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	479					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GGCCTTCAGCCAGTATTCATT	0.408																																																	0													85	90	88					5																	178506868		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1435C>T	5.37:g.178506868C>T	ENSP00000324064:p.Gln479*		Q6P4P9|Q8NFX1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q479*	ENST00000315475.6	37	c.1435	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.926681	0.97940	.	.	ENSG00000177932	ENST00000315475	.	.	.	4.22	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-16.1381	11.1843	0.48646	0.1838:0.8162:0.0:0.0	.	.	.	.	X	479	.	ENSP00000324064:Q479X	Q	+	1	0	ZNF354C	178439474	0.000000	0.05858	1.000000	0.80357	0.764000	0.43329	0.282000	0.18829	2.330000	0.79161	0.591000	0.81541	CAG	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177932		0.408	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	-	0	95	0	C			178506868	1	tier1	-	no_errors	ENST00000315475	ensembl	human	known	74_37	nonsense	19.77	69	17	SNP	0.924	T	T	178506868	C	T	178506868	4	4	74	1	0	0	0	0	0	1	0	0	17914	595	21	3	1449	3	ZNF354C	5	178506868	Nonsense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1745568	178506868	2408392	61	19711											
FOXC1	2296	genome.wustl.edu	37	chr6	1612017	1612018	+	In_Frame_Ins	INS	-	-	CGG																															agctcgtcgtccctgagtcaINScggcggcggcggcggcggcg																								rs557912856|rs398123612|rs572346201		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:1612017_1612018insCGG	ENST00000380874.2	+	1	1337_1338	c.1337_1338insCGG	c.(1336-1341)cacggc>caCGGcggc	p.456_457insG		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	456	Poly-Gly.				artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		TCCCTGAGTCAcggcggcggcg	0.782																																					Pancreas(133;719 1821 3197 26645 35015)												0																																										SO:0001652	inframe_insertion	0			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"Forkhead boxes"	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1359_1361dupCGG	6.37:g.1612024_1612026dupCGG	ENSP00000370256:p.Gly456_Gly456dup		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	In_Frame_Ins	INS	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.450in_frame_insG	ENST00000380874.2	37	c.1337_1338	CCDS4473.1	6																																																																																			FOXC1	-	NULL	ENSG00000054598		0.782	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1		0	13	0	-			1612018	1	tier1		no_errors	ENST00000380874	ensembl	human	known	74_37	in_frame_ins	35.71	9	5	INS	1.000:1.000	CGG	CGG	1612018	-	CGG	1612017	7	5	74	1	0	1	1	0	0	0	0	0	6016	159	6	0	1339	0	FOXC1	6	1612017	In_Frame_Ins	INS	-	TCGA-L5-A88W-01A-11D-A351-09		1612017	169503050	62	19712											
HLA-A	3105	genome.wustl.edu	37	chr6	29910684	29910685	+	Frame_Shift_Ins	INS	-	-	GATA																															atggagccgcgggcgccgtgINSgatagagcaggaggggccgg																								rs199474408|rs41542016		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:29910684_29910685insGATA	ENST00000396634.1	+	4	565_566	c.224_225insGATA	c.(223-228)tggatafs	p.-76fs	HLA-A_ENST00000376809.5_Frame_Shift_Ins_p.-76fs|HLA-A_ENST00000376802.2_Frame_Shift_Ins_p.-76fs|HLA-A_ENST00000376806.5_Frame_Shift_Ins_p.-76fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGCGCCGTGGATAGAGCAGG	0.673									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.225_228dupGATA	6.37:g.29910685_29910688dupGATA	ENSP00000379873:p.Ile76fs		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.E77fs	ENST00000396634.1	37	c.224_225	CCDS34373.1	6																																																																																			HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000206503		0.673	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1		0	73	0	-	NM_002116		29910685	1	tier1		no_errors	ENST00000376806	ensembl	human	known	74_37	frame_shift_ins	10.13	71	8	INS	0.072:0.061	GATA	GATA	29910685	-	GATA	29910684	7	5	74	1	0	1	1	0	0	0	0	0	7222	1357	47	0	230	0	HLA-A	6	29910684	Frame_Shift_Ins	INS	-	TCGA-L5-A88W-01A-11D-A351-09	28298667	29910684	141204383	63	19713											
VARS	7407	genome.wustl.edu	37	chr6	31747232	31747232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatccgggtgaggttgtagtCggcccgcagggagcgcacgg	6	6	19	10	5	0	1	0	1	0	0	2	3	1	2	2	5	1	4	2	5	1	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:31747232C>T	ENST00000375663.3	-	28	3810	c.3370G>A	c.(3370-3372)Gac>Aac	p.D1124N	VWA7_ENST00000375686.3_5'Flank|VWA7_ENST00000447450.1_5'Flank|VARS_ENST00000482996.1_5'Flank|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|Y_RNA_ENST00000364685.1_RNA	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1124					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGTTGTAGTCGGCCCGCAGG	0.687																																																	0													41	35	38					6																	31747232		1510	2707	4217	SO:0001583	missense	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3370G>A	6.37:g.31747232C>T	ENSP00000364815:p.Asp1124Asn		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.D1124N	ENST00000375663.3	37	c.3370	CCDS34412.1	6	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578149	0.45902	.	.	ENSG00000204394	ENST00000375663	T	0.11604	2.76	4.91	4.03	0.46877	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.161726	0.52532	D	0.000078	T	0.10981	0.0268	M	0.69248	2.105	0.80722	D	1	P	0.47253	0.892	P	0.48524	0.58	T	0.01371	-1.1372	10	0.62326	D	0.03	-16.6819	12.2869	0.54797	0.171:0.829:0.0:0.0	.	1124	P26640	SYVC_HUMAN	N	1124	ENSP00000364815:D1124N	ENSP00000364815:D1124N	D	-	1	0	VARS	31855211	0.990000	0.36364	0.827000	0.32855	0.236000	0.25371	2.924000	0.48876	1.274000	0.44362	0.462000	0.41574	GAC	VARS	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase	ENSG00000204394		0.687	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	-	0	51	0	C	NM_006295		31747232	-1	tier1	-	no_errors	ENST00000375663	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.977	T	T	31747232	C	T	31747232	3	4	74	1	0	0	0	0	1	0	0	0	17172	884	31	1	436	1	VARS	6	31747232	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1836548	31747232	139367835	64	19714											
LRFN2	57497	genome.wustl.edu	37	chr6	40360338	40360338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagtacacattgctcaCggccgctgccatcttgctgg	6	10	11	14	3	2	0	1	0	1	0	2	1	2	0	2	2	5	4	2	2	1	3	rs371754423		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:40360338C>T	ENST00000338305.6	-	3	2256	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	572						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V572M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACATTGCTCACGGCCGCTGCC	0.687																																																	1	Substitution - Missense(1)	large_intestine(1)							MET/VAL	1,4405	2.1+/-5.4	0,1,2202	40	37	38		1714	5.4	0.9	6		38	0,8600		0,0,4300	no	missense	LRFN2	NM_020737.1	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	572/790	40360338	1,13005	2203	4300	6503	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1714G>A	6.37:g.40360338C>T	ENSP00000345985:p.Val572Met		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V572M	ENST00000338305.6	37	c.1714	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	c	11.72	1.723105	0.30503	2.27E-4	0.0	ENSG00000156564	ENST00000338305	T	0.59638	0.25	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.58428	1.81	0.48901	D	0.999721	P	0.44090	0.826	B	0.32864	0.154	T	0.53676	-0.8405	10	0.54805	T	0.06	.	17.7543	0.88445	0.0:1.0:0.0:0.0	.	572	Q9ULH4	LRFN2_HUMAN	M	572	ENSP00000345985:V572M	ENSP00000345985:V572M	V	-	1	0	LRFN2	40468316	1.000000	0.71417	0.918000	0.36340	0.170000	0.22686	7.774000	0.85478	2.527000	0.85204	0.651000	0.88453	GTG	LRFN2	-	NULL	ENSG00000156564		0.687	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1		0	13	0	C	XM_166372		40360338	-1			no_errors	ENST00000338305	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.998	T	T	40360338	C	T	40360338	3	4	74	1	0	0	0	0	1	0	0	0	8973	536	19	1	659	1	LRFN2	6	40360338	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	8613106	40360338	130754729	65	19715											
CUL7	9820	genome.wustl.edu	37	chr6	43005594	43005594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagggactgcataggacagCacctggggccggtcgtcatg	9	6	15	11	2	1	0	1	0	0	0	2	2	1	2	2	5	2	2	2	5	1	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:43005594C>T	ENST00000265348.3	-	26	5014	c.4929G>A	c.(4927-4929)gtG>gtA	p.V1643V	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Silent_p.V1727V			Q14999	CUL7_HUMAN	cullin 7	1643					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATAGGACAGCACCTGGGGCC	0.617																																																	0													73	62	66					6																	43005594		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4929G>A	6.37:g.43005594C>T			B4DYZ0|F5H0L1|Q5T654	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.V1727	ENST00000265348.3	37	c.5181	CCDS4881.1	6																																																																																			CUL7	-	NULL	ENSG00000044090		0.617	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1		0	78	0	C	NM_014780		43005594	-1			no_errors	ENST00000535468	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.835	T	T	43005594	C	T	43005594	2	4	74	1	0	0	0	0	0	0	0	1	4069	697	25	3		3	CUL7	6	43005594	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	2645256	43005594	128109473	66	19716											
C6orf162	57150	genome.wustl.edu	37	chr6	88049924	88049924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatacaagagaataaaaagGacctctatgaagctattgat	19	9	7	6	0	1	3	0	2	1	1	1	5	1	4	1	1	2	1	1	1	10	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:88049924G>T	ENST00000392863.1	+	4	315	c.226G>T	c.(226-228)Gac>Tac	p.D76Y	SMIM8_ENST00000608868.1_Missense_Mutation_p.D76Y|RP1-102H19.8_ENST00000448282.2_Intron|SMIM8_ENST00000608353.1_Missense_Mutation_p.D76Y|SMIM8_ENST00000229570.5_Missense_Mutation_p.D76Y|SMIM8_ENST00000608525.1_Intron	NM_001042493.1	NP_001035958.1	Q96KF7	SMIM8_HUMAN	small integral membrane protein 8	76						integral component of membrane (GO:0016021)											GAATAAAAAGGACCTCTATGA	0.393																																																	0													127	127	127					6																	88049924		2203	4300	6503	SO:0001583	missense	0			AL050201	CCDS34496.1, CCDS75493.1	6q15	2013-06-21	2012-11-20	2012-11-20	ENSG00000111850	ENSG00000111850			21401	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 162"	C6orf162			Standard	NM_001287445		Approved	DKFZP586E1923, dJ102H19.2	uc003plq.1	Q96KF7	OTTHUMG00000015168	ENST00000392863.1:c.226G>T	6.37:g.88049924G>T	ENSP00000376603:p.Asp76Tyr		B2R4V6|E1P505|Q5TEZ3|Q6NSD2|Q8IZ10	Missense_Mutation	SNP	NULL	p.D76Y	ENST00000392863.1	37	c.226	CCDS34496.1	6	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186441	0.57909	.	.	ENSG00000111850	ENST00000392863;ENST00000229570	.	.	.	5.45	4.54	0.55810	.	0.251092	0.47852	D	0.000213	T	0.52581	0.1743	.	.	.	0.47905	D	0.999543	P	0.44260	0.83	P	0.49012	0.598	T	0.58797	-0.7573	8	0.56958	D	0.05	-2.1887	13.0929	0.59176	0.082:0.0:0.918:0.0	.	76	Q96KF7	CF162_HUMAN	Y	76	.	ENSP00000229570:D76Y	D	+	1	0	C6orf162	88106643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.781000	0.47750	1.351000	0.45789	0.655000	0.94253	GAC	SMIM8	-	NULL	ENSG00000111850		0.393	SMIM8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMIM8	HGNC	protein_coding	OTTHUMT00000472479.2		0	57	0	G	NM_020425		88049924	1			no_errors	ENST00000229570	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	88049924	G	T	88049924	3	4	74	1	0	0	0	0	1	0	0	0	2347	1174	41	3	232	3	C6orf162	6	88049924	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	45044330	88049924	83065143	67	19717											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130374096	130374096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaaaattatctctgaaagCtgacaccaaggaggatggag	16	7	10	8	0	1	2	0	2	1	0	2	5	1	5	2	3	1	1	2	3	5	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:130374096C>T	ENST00000529410.1	+	9	1021	c.542C>T	c.(541-543)gCt>gTt	p.A181V	L3MBTL3_ENST00000361794.2_Missense_Mutation_p.A181V|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.A156V|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.A181V|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.A156V|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.A156V			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	181					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCTCTGAAAGCTGACACCAAG	0.453																																																	0													84	72	76					6																	130374096		2203	4300	6503	SO:0001583	missense	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.542C>T	6.37:g.130374096C>T	ENSP00000431962:p.Ala181Val		Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.A181V	ENST00000529410.1	37	c.542	CCDS34537.1	6	.	.	.	.	.	.	.	.	.	.	C	1.481	-0.557129	0.03967	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000528385;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T;T	0.44881	2.5;2.51;2.5;0.91;2.51;2.51;2.5	5.03	2.05	0.26809	.	0.546869	0.20449	N	0.092138	T	0.06690	0.0171	N	0.08118	0	0.22171	N	0.999317	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33189	-0.9878	10	0.27785	T	0.31	.	5.1348	0.14928	0.1201:0.6081:0.1175:0.1543	.	156;181	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	V	181;156;181;181;156;156;181	ENSP00000431962:A181V;ENSP00000437185:A156V;ENSP00000354526:A181V;ENSP00000433257:A181V;ENSP00000357121:A156V;ENSP00000436706:A156V;ENSP00000357118:A181V	ENSP00000354526:A181V	A	+	2	0	L3MBTL3	130415789	0.060000	0.20803	0.625000	0.29200	0.086000	0.17979	0.224000	0.17738	0.643000	0.30638	-1.119000	0.02030	GCT	L3MBTL3	-	NULL	ENSG00000198945		0.453	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	-	0	52	0	C	XM_027074		130374096	1	tier1	-	no_errors	ENST00000361794	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.080	T	T	130374096	C	T	130374096	3	4	74	1	0	0	0	0	1	0	0	0	8621	797	28	3	560	3	L3MBTL3	6	130374096	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	42324172	130374096	40740971	68	19718											
VNN1	8876	genome.wustl.edu	37	chr6	133015212	133015212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccatcagggggacactGaggatcactggtatcgcatg	10	7	14	10	2	2	1	2	1	0	0	3	3	2	3	1	5	0	2	1	5	1	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:133015212G>T	ENST00000367928.4	-	3	464	c.451C>A	c.(451-453)Cag>Aag	p.Q151K		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	151	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GGGGGACACTGAGGATCACTG	0.453																																																	0													181	162	168					6																	133015212		2203	4300	6503	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.451C>A	6.37:g.133015212G>T	ENSP00000356905:p.Gln151Lys		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.Q151K	ENST00000367928.4	37	c.451	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967800	0.00457	.	.	ENSG00000112299	ENST00000367928	D	0.87256	-2.23	6.07	1.76	0.24704	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.665522	0.15245	N	0.272674	T	0.42966	0.1226	N	0.02802	-0.49	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.47611	-0.9104	10	0.06099	T	0.92	-12.6784	9.4972	0.38995	0.0:0.2758:0.4235:0.3006	.	151	O95497	VNN1_HUMAN	K	151	ENSP00000356905:Q151K	ENSP00000356905:Q151K	Q	-	1	0	VNN1	133056905	0.001000	0.12720	0.871000	0.34182	0.003000	0.03518	0.342000	0.19926	0.419000	0.25927	-0.188000	0.12872	CAG	VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.453	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	-	0	84	0	G			133015212	-1	tier1	-	no_errors	ENST00000367928	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.001	T	T	133015212	G	T	133015212	3	4	74	1	0	0	0	0	1	0	0	0	17231	1299	45	3	1110	3	VNN1	6	133015212	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	2641116	133015212	38099855	69	19719											
ALDH8A1	64577	genome.wustl.edu	37	chr6	135254110	135254110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctctgggtgggacaccAgggcctcacccaccctgggc	6	5	13	17	0	2	0	1	0	1	0	2	1	2	1	5	4	0	1	5	4	0	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:135254110A>G	ENST00000265605.2	-	5	721	c.653T>C	c.(652-654)cTg>cCg	p.L218P	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.L218P|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.L168P	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	218					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.L218P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTGGGACACCAGGGCCTCACC	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											35	38	37					6																	135254110		2203	4300	6503	SO:0001583	missense	0			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"Aldehyde dehydrogenases"	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.653T>C	6.37:g.135254110A>G	ENSP00000265605:p.Leu218Pro		B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.L218P	ENST00000265605.2	37	c.653	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	A	18.57	3.652558	0.67472	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.57273	0.41;0.41;0.41	5.45	5.45	0.79879	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.77343	0.4116	H	0.95365	3.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	D	0.85123	0.0970	10	0.87932	D	0	.	15.509	0.75766	1.0:0.0:0.0:0.0	.	168;218;218	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	P	218;218;168	ENSP00000265605:L218P;ENSP00000356819:L218P;ENSP00000356821:L168P	ENSP00000265605:L218P	L	-	2	0	ALDH8A1	135295803	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	9.017000	0.93651	2.062000	0.61559	0.455000	0.32223	CTG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000118514		0.572	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	-	0	46	0	A			135254110	-1	tier1	-	no_errors	ENST00000265605	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G	G	135254110	A	G	135254110	3	3	74	1	0	0	0	0	1	0	0	0	505	188	7	4	822	4	ALDH8A1	6	135254110	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	2238898	135254110	35860957	70	19720											
LATS1	9113	genome.wustl.edu	37	chr6	150005070	150005070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtttgtaaagcagaaggGctttgtccattagctgctgt	8	14	11	8	0	0	1	0	0	0	1	1	1	1	1	2	1	3	6	2	1	4	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:150005070G>T	ENST00000543571.1	-	4	1702	c.1155C>A	c.(1153-1155)agC>agA	p.S385R	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.S385R|LATS1_ENST00000253339.5_Missense_Mutation_p.S385R	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.S385S(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAGCAGAAGGGCTTTGTCCAT	0.453																																																	2	Substitution - coding silent(2)	endometrium(2)											75	75	75					6																	150005070		2203	4300	6503	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"LATS (large tumor suppressor, Drosophila) homolog 1", "LATS, large tumor suppressor, homolog 1 (Drosophila)"			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1155C>A	6.37:g.150005070G>T	ENSP00000437550:p.Ser385Arg			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.S385R	ENST00000543571.1	37	c.1155	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331269	0.24167	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.54866	0.55;0.55;3.12	5.39	3.25	0.37280	.	0.000000	0.64402	D	0.000001	T	0.46678	0.1405	L	0.43152	1.355	0.47905	D	0.999542	P;D;B	0.63046	0.944;0.992;0.014	B;P;B	0.59948	0.383;0.866;0.007	T	0.42241	-0.9463	9	.	.	.	.	11.4208	0.49980	0.2253:0.0:0.7747:0.0	.	237;385;385	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	R	385	ENSP00000437550:S385R;ENSP00000253339:S385R;ENSP00000444678:S385R	.	S	-	3	2	LATS1	150046763	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	1.452000	0.35156	1.269000	0.44280	0.655000	0.94253	AGC	LATS1	-	NULL	ENSG00000131023		0.453	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4		0	42	0	G	NM_004690		150005070	-1			no_errors	ENST00000253339	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	150005070	G	T	150005070	3	4	74	1	0	0	0	0	1	0	0	0	8674	1194	42	3	2257	3	LATS1	6	150005070	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	14750960	150005070	21109997	71	19721											
TULP4	56995	genome.wustl.edu	37	chr6	158924056	158924056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccctgaaacggccacccCcttaccagtgggaccccatg	9	6	8	18	1	1	1	1	1	0	0	1	2	1	2	7	2	2	0	7	2	2	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:158924056C>G	ENST00000367097.3	+	13	4718	c.3361C>G	c.(3361-3363)Cct>Gct	p.P1121A	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1121					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACGGCCACCCCCTTACCAGTG	0.587																																																	0													69	64	66					6																	158924056		2203	4300	6503	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3361C>G	6.37:g.158924056C>G	ENSP00000356064:p.Pro1121Ala		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1121A	ENST00000367097.3	37	c.3361	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738314	0.49045	.	.	ENSG00000130338	ENST00000367097	T	0.21734	1.99	4.68	4.68	0.58851	.	0.058707	0.64402	D	0.000001	T	0.38692	0.1050	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.32640	-0.9899	10	0.87932	D	0	-10.3359	17.7723	0.88496	0.0:1.0:0.0:0.0	.	1121	Q9NRJ4	TULP4_HUMAN	A	1121	ENSP00000356064:P1121A	ENSP00000356064:P1121A	P	+	1	0	TULP4	158844044	1.000000	0.71417	0.982000	0.44146	0.323000	0.28346	7.064000	0.76721	2.423000	0.82170	0.561000	0.74099	CCT	TULP4	-	NULL	ENSG00000130338		0.587	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0	122	0	C	NM_020245		158924056	1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	missense	40.54	44	30	SNP	0.997	G	G	158924056	C	G	158924056	3	3	74	1	0	0	0	0	1	0	0	0	16825	623	22	5	3411	5	TULP4	6	158924056	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	8918986	158924056	12191011	72	19722											
MAS1	4142	genome.wustl.edu	37	chr6	160328513	160328513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgtgcatcgacagagaaGaagagagtcactctcggaat	14	8	11	8	2	3	3	2	0	1	3	5	7	3	4	0	1	1	1	0	1	3	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr6:160328513G>A	ENST00000252660.4	+	1	540	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	176					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CGACAGAGAAGAAGAGAGTCA	0.537																																																	0													163	142	149					6																	160328513		2203	4300	6503	SO:0001583	missense	0			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"GPCR / Class A : Orphans"	6899	protein-coding gene	gene with protein product		165180	"MAS1 oncogene"				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.526G>A	6.37:g.160328513G>A	ENSP00000252660:p.Glu176Lys		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn	p.E176K	ENST00000252660.4	37	c.526	CCDS5272.1	6	.	.	.	.	.	.	.	.	.	.	G	7.111	0.576068	0.13623	.	.	ENSG00000130368	ENST00000252660	T	0.37752	1.18	4.97	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	94.425000	0.00166	N	0.000011	T	0.11324	0.0276	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.20384	0.029	T	0.24404	-1.0161	10	0.13108	T	0.6	.	10.7883	0.46417	0.158:0.0:0.842:0.0	.	176	P04201	MAS_HUMAN	K	176	ENSP00000252660:E176K	ENSP00000252660:E176K	E	+	1	0	MAS1	160248503	0.000000	0.05858	0.001000	0.08648	0.599000	0.36880	0.490000	0.22403	1.071000	0.40834	0.655000	0.94253	GAA	MAS1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas	ENSG00000130368		0.537	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1	HGNC	protein_coding	OTTHUMT00000042930.2	-	0	19	0	G	NM_002377		160328513	1	tier1	-	no_errors	ENST00000252660	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.000	A	A	160328513	G	A	160328513	3	1	74	1	0	0	0	0	1	0	0	0	9358	943	33	3	528	3	MAS1	6	160328513	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1404457	160328513	10786554	73	19723											
RAC1	5879	genome.wustl.edu	37	chr7	6426904	6426904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcatttcctggagaatatAtccctactgtgtaagtatct	11	15	7	8	0	1	1	0	0	1	1	3	2	3	1	2	1	2	3	2	1	6	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:6426904A>T	ENST00000348035.4	+	2	310	c.97A>T	c.(97-99)Atc>Ttc	p.I33F	RAC1_ENST00000356142.4_Missense_Mutation_p.I33F|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	33					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	TGGAGAATATATCCCTACTGT	0.358																																																	0													108	107	107					7																	6426904		2203	4297	6500	SO:0001583	missense	0			AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"Endogenous ligands"	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.97A>T	7.37:g.6426904A>T	ENSP00000258737:p.Ile33Phe		O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I33F	ENST00000348035.4	37	c.97	CCDS5348.1	7	.	.	.	.	.	.	.	.	.	.	A	34	5.292269	0.95546	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.77750	-1.12;-1.12	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87724	0.6249	M	0.81614	2.55	0.80722	D	1	P;P	0.51351	0.944;0.774	P;P	0.61533	0.89;0.848	D	0.89080	0.3475	10	0.87932	D	0	.	16.2827	0.82703	1.0:0.0:0.0:0.0	.	33;33	P63000;A4D2P0	RAC1_HUMAN;.	F	33	ENSP00000258737:I33F;ENSP00000348461:I33F	ENSP00000258737:I33F	I	+	1	0	RAC1	6393429	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.098000	0.94202	2.324000	0.78689	0.533000	0.62120	ATC	RAC1	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000136238		0.358	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	HGNC	protein_coding	OTTHUMT00000242868.2	-	0	139	0	A	NM_018890		6426904	1	tier1	-	no_errors	ENST00000356142	ensembl	human	known	74_37	missense	24.18	69	22	SNP	1.000	T	T	6426904	A	T	6426904	3	4	74	1	0	0	0	0	1	0	0	0	13019	449	16	5	103	5	RAC1	7	6426904	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09		6426904	152711759	74	19724											
CHN2	1124	genome.wustl.edu	37	chr7	29440273	29440273	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcttgataacactgtaCatagaaacaaaagctgccga	16	8	9	8	1	0	2	0	1	0	1	0	4	0	2	1	1	5	3	1	1	6	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:29440273C>T	ENST00000222792.6	+	6	935	c.405C>T	c.(403-405)taC>taT	p.Y135Y	CHN2_ENST00000495789.2_Silent_p.Y148Y|CHN2_ENST00000539406.1_Silent_p.Y210Y|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Silent_p.Y120Y|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	135					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TAACACTGTACATAGAAACAA	0.423																																					Ovarian(1;44 48 13232 18918 31480)												0													105	97	100					7																	29440273		2203	4300	6503	SO:0001819	synonymous_variant	0			L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"Rho GTPase activating proteins", "SH2 domain containing"	1944	protein-coding gene	gene with protein product	"beta chimerin", "chimaerin 2"	602857	"chimerin (chimaerin) 2"			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.405C>T	7.37:g.29440273C>T			A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.Y210	ENST00000222792.6	37	c.630	CCDS5420.1	7																																																																																			CHN2	-	smart_SH2	ENSG00000106069		0.423	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHN2	HGNC	protein_coding	OTTHUMT00000214228.2	-	0	37	0	C	NM_004067		29440273	1	tier1	-	no_errors	ENST00000539406	ensembl	human	known	74_37	silent	21.57	40	11	SNP	1.000	T	T	29440273	C	T	29440273	2	4	74	1	0	0	0	0	0	0	0	1	3370	489	17	3		3	CHN2	7	29440273	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	23013369	29440273	129698390	75	19725											
TBL2	26608	genome.wustl.edu	37	chr7	72987738	72987738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaggtgtagcccccatcCtcccgcttggtcatcttgaa	7	11	10	13	1	2	2	1	2	1	0	4	2	4	2	4	2	1	2	4	2	3	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:72987738C>T	ENST00000305632.5	-	4	751	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.E170E|TBL2_ENST00000432538.1_Silent_p.E134E	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	170							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCCCCCATCCTCCCGCTTGG	0.562																																																	0													131	112	118					7																	72987738		2203	4300	6503	SO:0001819	synonymous_variant	0			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"WD repeat domain containing"	11586	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 13"	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.510G>A	7.37:g.72987738C>T			Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G163R	ENST00000305632.5	37	c.487	CCDS5551.1	7																																																																																			TBL2	-	NULL	ENSG00000106638		0.562	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	-	0	42	0	C	NM_012453		72987738	-1	tier1	-	no_errors	ENST00000450285	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.282	T	T	72987738	C	T	72987738	2	4	74	1	0	0	0	0	0	0	0	1	15689	680	24	3		3	TBL2	7	72987738	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	43547465	72987738	86150925	76	19726											
TRIM56	81844	genome.wustl.edu	37	chr7	100730776	100730776	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctgccccgagtgccgcgaGacagtgcctgtgccgcccga	5	5	14	17	6	0	1	0	0	0	1	0	4	0	1	6	0	4	1	6	0	0	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100730776G>A	ENST00000306085.6	+	3	480	c.183G>A	c.(181-183)gaG>gaA	p.E61E		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	61					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTGCCGCGAGACAGTGCCTG	0.672																																					Ovarian(89;1092 1379 22756 38989 39611)												0													38	49	46					7																	100730776		2139	4238	6377	SO:0001819	synonymous_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.183G>A	7.37:g.100730776G>A			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E61	ENST00000306085.6	37	c.183	CCDS43625.1	7																																																																																			TRIM56	-	NULL	ENSG00000169871		0.672	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	-	0	22	0	G	NM_030961		100730776	1	tier1	-	no_errors	ENST00000306085	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.017	A	A	100730776	G	A	100730776	2	1	74	1	0	0	0	0	0	0	0	1	16578	933	33	3		3	TRIM56	7	100730776	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	27743038	100730776	58407887	77	19727			1	16		3	3	387	G		2.973822e-06
TRIM56	81844	genome.wustl.edu	37	chr7	100730795	100730795	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agacagtgcctgtgccgcccGagggtgtggcctccttcaag	6	8	14	13	2	1	1	1	0	0	1	2	2	2	1	5	2	2	0	5	2	1	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100730795G>C	ENST00000306085.6	+	3	499	c.202G>C	c.(202-204)Gag>Cag	p.E68Q		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	68					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGTGCCGCCCGAGGGTGTGGC	0.682																																					Ovarian(89;1092 1379 22756 38989 39611)												0													42	53	50					7																	100730795		2137	4245	6382	SO:0001583	missense	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.202G>C	7.37:g.100730795G>C	ENSP00000305161:p.Glu68Gln		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E68Q	ENST00000306085.6	37	c.202	CCDS43625.1	7	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161065	0.01673	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42900	0.96;1.3	3.86	0.98	0.19750	.	1.226790	0.06049	N	0.656276	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B;B	0.24651	0.108;0.001	B;B	0.24394	0.053;0.003	T	0.23619	-1.0183	10	0.10902	T	0.67	.	4.1974	0.10450	0.2169:0.191:0.5921:0.0	.	68;68	C9JI91;Q9BRZ2	.;TRI56_HUMAN	Q	68	ENSP00000305161:E68Q;ENSP00000404186:E68Q	ENSP00000305161:E68Q	E	+	1	0	TRIM56	100517515	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.448000	0.21726	0.199000	0.20427	-0.218000	0.12543	GAG	TRIM56	-	NULL	ENSG00000169871		0.682	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1		0	21	0	G	NM_030961		100730795	1			no_errors	ENST00000306085	ensembl	human	known	74_37	missense	22.50	29	9	SNP	0.000	C	C	100730795	G	C	100730795	3	2	74	1	0	0	0	0	1	0	0	0	16578	1059	37	5	204	5	TRIM56	7	100730795	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	19	100730795	58407868	78	19728			1	16		3	3	387	G		2.973822e-06
TRIM56	81844	genome.wustl.edu	37	chr7	100731162	100731162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctcacagttgctgtgcaGagagtgccgcctagaccccc	7	8	11	15	1	1	2	1	0	0	2	1	3	1	2	4	0	4	4	4	0	1	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100731162G>C	ENST00000306085.6	+	3	866	c.569G>C	c.(568-570)aGa>aCa	p.R190T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	190					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TTGCTGTGCAGAGAGTGCCGC	0.701																																					Ovarian(89;1092 1379 22756 38989 39611)												0													19	25	23					7																	100731162		2088	4219	6307	SO:0001583	missense	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19028	protein-coding gene	gene with protein product			"tripartite motif-containing 56"				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.569G>C	7.37:g.100731162G>C	ENSP00000305161:p.Arg190Thr		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R190T	ENST00000306085.6	37	c.569	CCDS43625.1	7	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031436	0.35797	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42131	0.98;0.98	3.99	3.11	0.35812	Zinc finger, B-box (3);	0.228753	0.22889	N	0.054415	T	0.31827	0.0809	L	0.28649	0.875	0.28750	N	0.90147	P;P	0.37914	0.611;0.458	B;B	0.43123	0.321;0.409	T	0.11641	-1.0579	10	0.25751	T	0.34	.	7.4349	0.27150	0.1164:0.0:0.8836:0.0	.	190;190	C9JI91;Q9BRZ2	.;TRI56_HUMAN	T	190	ENSP00000305161:R190T;ENSP00000404186:R190T	ENSP00000305161:R190T	R	+	2	0	TRIM56	100517882	0.882000	0.30256	0.782000	0.31804	0.988000	0.76386	3.031000	0.49728	1.250000	0.43966	0.655000	0.94253	AGA	TRIM56	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000169871		0.701	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	-	0	59	0	G	NM_030961		100731162	1	tier1	-	no_errors	ENST00000306085	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.964	C	C	100731162	G	C	100731162	3	2	74	1	0	0	0	0	1	0	0	0	16578	942	33	5	571	5	TRIM56	7	100731162	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	367	100731162	58407501	79	19729			1	16		3	3	387	G		2.973822e-06
RABL5	64792	genome.wustl.edu	37	chr7	100958483	100958483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgattatgctttttaaatActttatgaattccatccgga	11	18	6	6	1	0	2	0	2	0	0	2	3	2	3	2	1	2	2	2	1	6	9			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:100958483A>G	ENST00000315322.4	-	5	583	c.490T>C	c.(490-492)Tat>Cat	p.Y164H	RABL5_ENST00000517481.1_Missense_Mutation_p.Y87H|RABL5_ENST00000498704.2_Missense_Mutation_p.Y87H|RABL5_ENST00000437644.2_Missense_Mutation_p.Y134H|RABL5_ENST00000495166.1_5'UTR	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		164					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CTTTTTAAATACTTTATGAAT	0.473											OREG0018221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													120	104	109					7																	100958483		2203	4300	6503	SO:0001583	missense	0																														ENST00000315322.4:c.490T>C	7.37:g.100958483A>G	ENSP00000320359:p.Tyr164His	1355	Q49AG1|Q69YV5|Q9BSW4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.Y164H	ENST00000315322.4	37	c.490	CCDS5719.1	7	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952181	0.73787	.	.	ENSG00000128581	ENST00000517481;ENST00000315322;ENST00000498704;ENST00000437644	T	0.50001	0.76	4.88	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.73962	2.25	0.46396	D	0.999027	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.969	T	0.66320	-0.5953	10	0.87932	D	0	-24.5576	9.1952	0.37224	0.8376:0.0:0.0:0.1624	.	134;164	Q9H7X7-2;Q9H7X7	.;RABL5_HUMAN	H	87;164;87;134	ENSP00000320359:Y164H	ENSP00000320359:Y164H	Y	-	1	0	RABL5	100745203	1.000000	0.71417	0.864000	0.33941	0.990000	0.78478	8.960000	0.93117	0.861000	0.35504	0.533000	0.62120	TAT	RABL5	-	NULL	ENSG00000128581		0.473	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1	-	0	85	0	A			100958483	-1	tier1	-	no_errors	ENST00000315322	ensembl	human	known	74_37	missense	25.26	71	24	SNP	1.000	G	G	100958483	A	G	100958483	3	3	74	1	0	0	0	0	1	0	0	0	13018	391	14	4	71	4	RABL5	7	100958483	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	227321	100958483	58180180	80	19730											
CDHR3	222256	genome.wustl.edu	37	chr7	105664924	105664924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctccatattgcttctggGtctcctcgtgtacctggtcg	3	14	12	12	2	2	0	0	0	2	0	6	0	3	0	3	3	2	3	3	3	2	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:105664924G>T	ENST00000317716.9	+	15	2254	c.2174G>T	c.(2173-2175)gGt>gTt	p.G725V	CDHR3_ENST00000343407.5_Silent_p.G227G|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.G637V|CDHR3_ENST00000542731.1_Missense_Mutation_p.G725V	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	725					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTGCTTCTGGGTCTCCTCGTG	0.527																																																	0													183	179	180					7																	105664924		2059	4198	6257	SO:0001583	missense	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"Cadherins / Cadherin-related"	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2174G>T	7.37:g.105664924G>T	ENSP00000325954:p.Gly725Val		Q8TCI7	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G725V	ENST00000317716.9	37	c.2174	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610028	0.46527	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.61158	0.13;0.18;0.16	5.65	3.75	0.43078	.	0.138425	0.49916	N	0.000121	T	0.48429	0.1499	L	0.50919	1.6	0.80722	D	1	P;P	0.34724	0.465;0.465	B;B	0.29353	0.101;0.101	T	0.49532	-0.8930	10	0.36615	T	0.2	-15.0048	13.4241	0.61015	0.0:0.0:0.7152:0.2848	.	712;725	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	V	725;725;637	ENSP00000439766:G725V;ENSP00000325954:G725V;ENSP00000417771:G637V	ENSP00000325954:G725V	G	+	2	0	CDHR3	105452160	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	3.627000	0.54252	1.350000	0.45770	0.655000	0.94253	GGT	CDHR3	-	NULL	ENSG00000128536		0.527	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0	87	0	G	NM_152750		105664924	1	tier1	-	no_errors	ENST00000317716	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.997	T	T	105664924	G	T	105664924	3	4	74	1	0	0	0	0	1	0	0	0	3127	1261	44	3	2232	3	CDHR3	7	105664924	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	4706441	105664924	53473739	81	19731											
CAV2	858	genome.wustl.edu	37	chr7	116139910	116139910	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacagccaccacagcggcctCgagtacgccgaccccgagaa	11	3	10	17	5	0	1	0	0	0	1	1	4	0	1	6	1	4	1	6	1	3	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:116139910C>G	ENST00000222693.4	+	1	467	c.75C>G	c.(73-75)ctC>ctG	p.L25L	CAV2_ENST00000343213.2_Silent_p.L25L|CAV2_ENST00000393480.2_Silent_p.L25L|CAV2_ENST00000462876.1_3'UTR|AC002066.1_ENST00000446355.2_RNA	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	25					caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			ACAGCGGCCTCGAGTACGCCG	0.682																																																	0													23	23	23					7																	116139910		2200	4297	6497	SO:0001819	synonymous_variant	0			AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.75C>G	7.37:g.116139910C>G			A4D0U2|Q9UGM7	Silent	SNP	pfam_Caveolin	p.L25	ENST00000222693.4	37	c.75	CCDS5766.1	7																																																																																			CAV2	-	pfam_Caveolin	ENSG00000105971		0.682	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAV2	HGNC	protein_coding	OTTHUMT00000059735.4	-	0	122	0	C	NM_001233		116139910	1	tier1	-	no_errors	ENST00000222693	ensembl	human	known	74_37	silent	34.07	89	46	SNP	0.003	G	G	116139910	C	G	116139910	2	3	74	1	0	0	0	0	0	0	0	1	2701	871	31	5		5	CAV2	7	116139910	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	10474986	116139910	42998753	82	19732											
CCDC136	64753	genome.wustl.edu	37	chr7	128454861	128454861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccttctgttgtcaaagaagCccgggggaagaatgctaata	12	9	12	8	1	2	2	1	0	1	2	2	3	2	3	2	2	2	2	2	2	6	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:128454861C>G	ENST00000297788.4	+	15	3300	c.2933C>G	c.(2932-2934)gCc>gGc	p.A978G	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	978						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GTCAAAGAAGCCCGGGGGAAG	0.537																																																	0													38	40	40					7																	128454861		1871	4119	5990	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2933C>G	7.37:g.128454861C>G	ENSP00000297788:p.Ala978Gly		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.A978G	ENST00000297788.4	37	c.2933	CCDS47704.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.97|14.97	2.695089|2.695089	0.48202|0.48202	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697|ENST00000494552	T|.	0.35048|.	1.33|.	5.64|5.64	-1.79|-1.79	0.07932|0.07932	.|.	1.208430|.	0.05781|.	N|.	0.608570|.	T|T	0.19248|0.19248	0.0462|0.0462	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.17268|.	0.021;0.001|.	B;B|.	0.15484|.	0.013;0.002|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.33141|.	T|.	0.24|.	0.295|0.295	2.0184|2.0184	0.03503|0.03503	0.2469:0.2382:0.3626:0.1522|0.2469:0.2382:0.3626:0.1522	.|.	978;978|.	Q96JN2-4;Q96JN2|.	.;CC136_HUMAN|.	G|A	978|855	ENSP00000297788:A978G|.	ENSP00000297788:A978G|.	A|P	+|+	2|1	0|0	CCDC136|CCDC136	128242097|128242097	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.672000|0.672000	0.39443|0.39443	-1.196000|-1.196000	0.03041|0.03041	-0.029000|-0.029000	0.13827|0.13827	0.650000|0.650000	0.86243|0.86243	GCC|CCC	CCDC136	-	NULL	ENSG00000128596		0.537	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	-	0	77	0	C	NM_022742		128454861	1	tier1	-	no_errors	ENST00000297788	ensembl	human	known	74_37	missense	21.62	58	16	SNP	0.000	G	G	128454861	C	G	128454861	3	3	74	1	0	0	0	0	1	0	0	0	2777	739	26	5	2991	5	CCDC136	7	128454861	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	12314951	128454861	30683802	83	19733											
FLNC	2318	genome.wustl.edu	37	chr7	128486431	128486431	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgggcgtgaccgagggCtgtgatcccacccgcgtccg	5	6	16	14	6	0	2	0	2	0	0	2	4	2	2	4	2	0	1	4	2	0	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:128486431C>T	ENST00000325888.8	+	23	4302	c.4041C>T	c.(4039-4041)ggC>ggT	p.G1347G	FLNC_ENST00000346177.6_Silent_p.G1347G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1347					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGACCGAGGGCTGTGATCCCA	0.642																																																	0													50	61	57					7																	128486431		2120	4216	6336	SO:0001819	synonymous_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4041C>T	7.37:g.128486431C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G1347	ENST00000325888.8	37	c.4041	CCDS43644.1	7																																																																																			FLNC	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	36	0	C			128486431	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	24.14	44	14	SNP	1.000	T	T	128486431	C	T	128486431	2	4	74	1	0	0	0	0	0	0	0	1	5957	784	28	3		3	FLNC	7	128486431	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	31570	128486431	30652232	84	19734											
HIPK2	28996	genome.wustl.edu	37	chr7	139416253	139416253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctcgtaggtgttggtcatgGagcacagcacctcatgctgc	7	10	12	12	1	2	0	2	0	0	0	3	1	2	1	2	3	4	5	2	3	1	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:139416253G>C	ENST00000406875.3	-	2	675	c.581C>G	c.(580-582)tCc>tGc	p.S194C	HIPK2_ENST00000428878.2_Missense_Mutation_p.S194C|HIPK2_ENST00000342645.6_Missense_Mutation_p.S194C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	194	Interaction with DAXX.|Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTTGGTCATGGAGCACAGCAC	0.582																																																	0													101	88	92					7																	139416253		1568	3582	5150	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.581C>G	7.37:g.139416253G>C	ENSP00000385571:p.Ser194Cys		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S194C	ENST00000406875.3	37	c.581		7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229523	0.79688	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.27256	1.68;1.68;1.68	5.41	5.41	0.78517	Protein kinase-like domain (1);	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.993;0.995	T	0.59434	-0.7455	8	0.87932	D	0	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	194;194	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	C	194	ENSP00000385571:S194C;ENSP00000413724:S194C;ENSP00000343108:S194C	ENSP00000343108:S194C	S	-	2	0	HIPK2	139062739	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.523000	0.85059	0.655000	0.94253	TCC	HIPK2	-	superfamily_Kinase-like_dom	ENSG00000064393		0.582	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	-	0	44	0	G	NM_022740		139416253	-1	tier1	-	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	C	C	139416253	G	C	139416253	3	2	74	1	0	0	0	0	1	0	0	0	7144	1174	41	5	3071	5	HIPK2	7	139416253	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	10929822	139416253	19722410	85	19735											
EPHB6	2051	genome.wustl.edu	37	chr7	142564262	142564262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtccctgtggtgcacCaggtgagccgggcatccaac	6	8	13	14	1	0	1	0	1	0	0	2	1	2	1	4	3	4	3	4	3	1	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:142564262C>A	ENST00000392957.2	+	10	2273	c.1486C>A	c.(1486-1488)Cag>Aag	p.Q496K	EPHB6_ENST00000411471.2_Missense_Mutation_p.Q219K|EPHB6_ENST00000442129.1_Missense_Mutation_p.Q496K	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	496	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.Q481*(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGGTGCACCAGGTGAGCCG	0.587																																																	1	Substitution - Nonsense(1)	lung(1)											64	63	63					7																	142564262		2203	4300	6503	SO:0001583	missense	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1486C>A	7.37:g.142564262C>A	ENSP00000376684:p.Gln496Lys		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Q496K	ENST00000392957.2	37	c.1486	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179569	0.38511	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.56941	0.43;0.43;0.43	5.04	4.16	0.48862	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000435	T	0.56848	0.2013	L	0.39467	1.215	0.48452	D	0.999657	D	0.76494	0.999	D	0.72075	0.976	T	0.55231	-0.8173	10	0.02654	T	1	.	13.1132	0.59285	0.0:0.9215:0.0:0.0785	.	496	O15197	EPHB6_HUMAN	K	496;496;219	ENSP00000376684:Q496K;ENSP00000410789:Q496K;ENSP00000409061:Q219K	ENSP00000376684:Q496K	Q	+	1	0	EPHB6	142274384	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.697000	0.68295	1.250000	0.43966	0.556000	0.70494	CAG	EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000106123		0.587	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1		0	32	0	C			142564262	1			no_errors	ENST00000392957	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	142564262	C	A	142564262	3	1	74	1	0	0	0	0	1	0	0	0	5194	595	21	3	1508	3	EPHB6	7	142564262	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	3148009	142564262	16574401	86	19736											
GIMAP2	26157	genome.wustl.edu	37	chr7	150389763	150389763	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggctgcacagagggtgaAggagatctttggagaggatg	11	7	18	5	0	1	4	0	1	1	3	1	7	1	5	0	5	1	3	0	5	1	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr7:150389763A>C	ENST00000223293.5	+	3	483	c.389A>C	c.(388-390)aAg>aCg	p.K130T		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	130	AIG1-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGGGTGAAGGAGATCTTT	0.552																																																	0													60	47	52					7																	150389763		2203	4300	6503	SO:0001583	missense	0			AL110151	CCDS5905.1	7q36.1	2014-04-04			ENSG00000106560	ENSG00000106560		"GTPases, IMAP"	21789	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 12"	608085				15474311	Standard	NM_015660		Approved	DKFZp586D0824, HIMAP2, IMAP2, IAN12	uc003who.3	Q9UG22	OTTHUMG00000157488	ENST00000223293.5:c.389A>C	7.37:g.150389763A>C	ENSP00000223293:p.Lys130Thr		Q96L25	Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.K130T	ENST00000223293.5	37	c.389	CCDS5905.1	7	.	.	.	.	.	.	.	.	.	.	A	11.78	1.739249	0.30774	.	.	ENSG00000106560	ENST00000223293	T	0.06142	3.34	3.9	-0.0189	0.13962	AIG1 (1);	0.315023	0.30219	N	0.010130	T	0.13329	0.0323	M	0.64567	1.98	0.38576	D	0.950078	D	0.67145	0.996	D	0.70935	0.971	T	0.20371	-1.0277	10	0.54805	T	0.06	.	0.9493	0.01372	0.4974:0.1977:0.1137:0.1912	.	130	Q9UG22	GIMA2_HUMAN	T	130	ENSP00000223293:K130T	ENSP00000223293:K130T	K	+	2	0	GIMAP2	150020696	0.050000	0.20438	0.221000	0.23827	0.146000	0.21551	2.243000	0.43115	-0.079000	0.12707	0.496000	0.49642	AAG	GIMAP2	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000106560		0.552	GIMAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP2	HGNC	protein_coding	OTTHUMT00000348948.1	-	0	59	0	A	NM_015660		150389763	1	tier1	-	no_errors	ENST00000223293	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.571	C	C	150389763	A	C	150389763	3	2	74	1	0	0	0	0	1	0	0	0	6406	72	3	4	395	4	GIMAP2	7	150389763	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	7825501	150389763	8748900	87	19737											
MTUS1	57509	genome.wustl.edu	37	chr8	17542007	17542007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcatcgggagctgtctgtgGctggatacataagcttcgag	8	10	14	9	3	1	0	0	0	1	0	3	3	1	2	0	3	3	4	0	3	2	3	rs201957190		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:17542007G>T	ENST00000262102.6	-	7	2892	c.2668C>A	c.(2668-2670)Cca>Aca	p.P890T	MTUS1_ENST00000519263.1_Missense_Mutation_p.P836T|MTUS1_ENST00000544260.1_Missense_Mutation_p.P35T|MTUS1_ENST00000381869.3_Missense_Mutation_p.P836T|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000297488.6_Missense_Mutation_p.P56T|MTUS1_ENST00000381861.3_Missense_Mutation_p.P137T|MIR548V_ENST00000584165.1_RNA	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	890					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GCTGTCTGTGGCTGGATACAT	0.398																																																	0													222	217	219					8																	17542007		1911	4127	6038	SO:0001583	missense	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2668C>A	8.37:g.17542007G>T	ENSP00000262102:p.Pro890Thr		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.P890T	ENST00000262102.6	37	c.2668	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.659043	0.00772	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34	5.01	3.78	0.43462	.	0.315979	0.38837	N	0.001548	T	0.13628	0.0330	N	0.00275	-1.725	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.29701	-1.0003	10	0.02654	T	1	-10.9541	8.2206	0.31539	0.0:0.071:0.3561:0.5729	.	836;890;137;56	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	T	836;35;56;137;890;836	ENSP00000371293:P836T;ENSP00000445738:P35T;ENSP00000297488:P56T;ENSP00000371285:P137T;ENSP00000262102:P890T;ENSP00000430167:P836T	ENSP00000262102:P890T	P	-	1	0	MTUS1	17586287	1.000000	0.71417	0.989000	0.46669	0.198000	0.23893	0.959000	0.29240	1.049000	0.40321	-0.256000	0.11100	CCA	MTUS1	-	NULL	ENSG00000129422		0.398	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0	66	0	G	XM_372031		17542007	-1			no_errors	ENST00000262102	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.984	T	T	17542007	G	T	17542007	3	4	74	1	0	0	0	0	1	0	0	0	10003	1203	42	3	1180	3	MTUS1	8	17542007	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		17542007	128822015	88	19738											
ADAM7	8756	genome.wustl.edu	37	chr8	24298629	24298629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatcactcagaatgcttcCcgggtgtatattcttgatga	11	13	9	8	1	3	4	2	2	1	2	4	4	4	4	1	1	1	2	1	1	4	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:24298629C>A	ENST00000175238.6	+	1	91	c.8C>A	c.(7-9)cCc>cAc	p.P3H	ADAM7_ENST00000441335.2_Missense_Mutation_p.P3H|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.P3H|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAATGCTTCCCGGGTGTATA	0.433																																																	0													219	202	208					8																	24298629		2203	4300	6503	SO:0001583	missense	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.8C>A	8.37:g.24298629C>A	ENSP00000175238:p.Pro3His		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P3H	ENST00000175238.6	37	c.8	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020957	0.35606	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.28895	2.21;1.59;1.6	4.06	1.26	0.21427	.	1.102700	0.07086	N	0.837946	T	0.28300	0.0699	L	0.59436	1.845	0.09310	N	1	D;D	0.58620	0.983;0.983	B;B	0.43783	0.431;0.431	T	0.20907	-1.0261	10	0.15499	T	0.54	.	5.6855	0.17801	0.0:0.6531:0.0:0.3469	.	3;3	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	H	3	ENSP00000393073:P3H;ENSP00000175238:P3H;ENSP00000370166:P3H	ENSP00000175238:P3H	P	+	2	0	ADAM7	24354574	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.576000	0.05854	0.489000	0.27749	0.563000	0.77884	CCC	ADAM7	-	NULL	ENSG00000069206		0.433	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	97	0	C	NM_003817		24298629	1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	31.15	42	19	SNP	0.000	A	A	24298629	C	A	24298629	3	1	74	1	0	0	0	0	1	0	0	0	251	623	22	3	10	3	ADAM7	8	24298629	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	6756622	24298629	122065393	89	19739											
ADAM7	8756	genome.wustl.edu	37	chr8	24365023	24365023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagattcaagaggaatcGcagatcccaatcaaagtgcc	16	7	9	9	1	2	3	2	0	0	3	4	4	3	4	2	1	1	2	2	1	6	2	rs367681847		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:24365023G>A	ENST00000175238.6	+	21	2322	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.A769T|ADAM7_ENST00000520720.1_Intron|RP11-561E1.1_ENST00000519364.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	747						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGAGGAATCGCAGATCCCAA	0.388																																																	0								G	THR/ALA	0,4406		0,0,2203	115	123	120		2239	-8	0	8		120	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAM7	NM_003817.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	747/755	24365023	1,13005	2203	4300	6503	SO:0001583	missense	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2239G>A	8.37:g.24365023G>A	ENSP00000175238:p.Ala747Thr		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A747T	ENST00000175238.6	37	c.2239	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854136	0.32791	0.0	1.16E-4	ENSG00000069206	ENST00000175238;ENST00000380789	T;T	0.30182	1.56;1.54	4.22	-7.96	0.01144	.	1.627280	0.03441	N	0.209249	T	0.25195	0.0612	L	0.47716	1.5	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.13124	-1.0521	10	0.33940	T	0.23	.	11.0758	0.48030	0.7459:0.1111:0.143:0.0	.	747	Q9H2U9	ADAM7_HUMAN	T	747;769	ENSP00000175238:A747T;ENSP00000370166:A769T	ENSP00000175238:A747T	A	+	1	0	ADAM7	24420913	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.788000	0.04614	-1.975000	0.00997	-1.019000	0.02448	GCA	ADAM7	-	NULL	ENSG00000069206		0.388	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	113	0	G	NM_003817		24365023	1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	29.21	63	26	SNP	0.000	A	A	24365023	G	A	24365023	3	1	74	1	0	0	0	0	1	0	0	0	251	1087	38	1	2321	1	ADAM7	8	24365023	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	66394	24365023	121998999	90	19740											
TRIM35	23087	genome.wustl.edu	37	chr8	27156030	27156030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgccgcatggcccagaagGccttggccttctcccgcagt	6	7	12	16	3	1	1	0	0	1	1	2	1	1	1	5	3	1	2	5	3	1	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:27156030G>A	ENST00000305364.4	-	2	565	c.482C>T	c.(481-483)gCc>gTc	p.A161V	TRIM35_ENST00000521253.1_Intron	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	161					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGCCCAGAAGGCCTTGGCCTT	0.607																																																	0													100	89	93					8																	27156030		2203	4300	6503	SO:0001583	missense	0			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16285	protein-coding gene	gene with protein product			"tripartite motif-containing 35"			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.482C>T	8.37:g.27156030G>A	ENSP00000301924:p.Ala161Val		Q86XQ0|Q8WVA4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A161V	ENST00000305364.4	37	c.482	CCDS6056.2	8	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763703	0.49574	.	.	ENSG00000104228	ENST00000305364	T	0.64085	-0.08	5.35	5.35	0.76521	.	.	.	.	.	T	0.55768	0.1941	L	0.44542	1.39	0.80722	D	1	B	0.16802	0.019	B	0.19391	0.025	T	0.51818	-0.8657	9	0.39692	T	0.17	.	14.592	0.68373	0.0:0.0:1.0:0.0	.	161	Q9UPQ4	TRI35_HUMAN	V	161	ENSP00000301924:A161V	ENSP00000301924:A161V	A	-	2	0	TRIM35	27211947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.619000	0.54196	2.503000	0.84419	0.655000	0.94253	GCC	TRIM35	-	NULL	ENSG00000104228		0.607	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	-	0	38	0	G	NM_171982		27156030	-1	tier1	-	no_errors	ENST00000305364	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A	A	27156030	G	A	27156030	3	1	74	1	0	0	0	0	1	0	0	0	16557	1203	42	3	1019	3	TRIM35	8	27156030	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	2791007	27156030	119207992	91	19741											
KIF13B	23303	genome.wustl.edu	37	chr8	28980968	28980968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agttagggtcaaccgcatctCcagaagctgcgcttcacggt	9	9	11	12	3	3	1	2	0	1	1	4	1	3	1	2	2	3	4	2	2	3	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:28980968C>G	ENST00000524189.1	-	28	3432	c.3394G>C	c.(3394-3396)Gag>Cag	p.E1132Q	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1132					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACCGCATCTCCAGAAGCTGC	0.498																																																	0													137	135	136					8																	28980968		1961	4157	6118	SO:0001583	missense	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3394G>C	8.37:g.28980968C>G	ENSP00000427900:p.Glu1132Gln		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1132Q	ENST00000524189.1	37	c.3394	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269002	0.59540	.	.	ENSG00000197892	ENST00000524189	T	0.78364	-1.17	4.59	4.59	0.56863	.	0.103280	0.64402	D	0.000003	T	0.76190	0.3953	L	0.47716	1.5	0.80722	D	1	B	0.32918	0.39	B	0.37731	0.257	T	0.78727	-0.2091	10	0.66056	D	0.02	.	17.6617	0.88195	0.0:1.0:0.0:0.0	.	1132	F8VPJ2	.	Q	1132	ENSP00000427900:E1132Q	ENSP00000427900:E1132Q	E	-	1	0	KIF13B	29036887	1.000000	0.71417	0.982000	0.44146	0.233000	0.25261	7.215000	0.77966	2.377000	0.81083	0.650000	0.86243	GAG	KIF13B	-	NULL	ENSG00000197892		0.498	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	-	0	64	0	C			28980968	-1	tier1	-	no_errors	ENST00000524189	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	G	G	28980968	C	G	28980968	3	3	74	1	0	0	0	0	1	0	0	0	8302	864	30	5	2138	5	KIF13B	8	28980968	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1824938	28980968	117383054	92	19742											
MYST3	7994	genome.wustl.edu	37	chr8	41792007	41792007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggacttcactgctggctGcatcctcttcctcaccctct	4	13	7	17	0	4	0	2	0	2	0	6	1	6	1	3	2	2	3	3	2	0	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:41792007G>A	ENST00000396930.3	-	18	4274	c.3731C>T	c.(3730-3732)gCa>gTa	p.A1244V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A1244V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1244V	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1244					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ACTGCTGGCTGCAtcctcttc	0.572																																																	0													92	64	73					8																	41792007		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.3731C>T	8.37:g.41792007G>A	ENSP00000380136:p.Ala1244Val		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A1244V	ENST00000396930.3	37	c.3731	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	6.471	0.455135	0.12283	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.59364	0.27;0.27;0.27	5.95	5.95	0.96441	.	0.285799	0.35378	N	0.003245	T	0.34774	0.0909	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34551	-0.9824	10	0.54805	T	0.06	-7.0373	15.4623	0.75369	0.0678:0.0:0.9322:0.0	.	1244	Q92794	KAT6A_HUMAN	V	1244	ENSP00000265713:A1244V;ENSP00000385888:A1244V;ENSP00000380136:A1244V	ENSP00000265713:A1244V	A	-	2	0	KAT6A	41911164	0.003000	0.15002	0.776000	0.31678	0.061000	0.15899	1.385000	0.34408	2.825000	0.97269	0.655000	0.94253	GCA	KAT6A	-	NULL	ENSG00000083168		0.572	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0	65	0	G	NM_006766		41792007	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.022	A	A	41792007	G	A	41792007	3	1	74	1	0	0	0	0	1	0	0	0	10142	1319	46	3	2287	3	MYST3	8	41792007	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	12811039	41792007	104572015	93	19743											
PXDNL	137902	genome.wustl.edu	37	chr8	52384761	52384761	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttacttgttgtgtatccaAataatctcaggtttggggtt	9	18	9	5	0	1	0	1	0	1	0	3	0	2	0	1	3	1	4	1	3	4	8			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:52384761A>C	ENST00000356297.4	-	8	898	c.798T>G	c.(796-798)atT>atG	p.I266M	PXDNL_ENST00000543296.1_Missense_Mutation_p.I266M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	266	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTGTATCCAAATAATCTCAG	0.443																																																	0													172	168	169					8																	52384761		1892	4108	6000	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.798T>G	8.37:g.52384761A>C	ENSP00000348645:p.Ile266Met		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.I266M	ENST00000356297.4	37	c.798	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319536	0.23994	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66638	-0.22;-0.22	3.98	0.145	0.14829	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67850	0.2937	L	0.28556	0.865	0.29369	N	0.864114	D	0.69078	0.997	D	0.72982	0.979	T	0.61811	-0.6986	9	0.72032	D	0.01	.	7.3916	0.26913	0.5141:0.0:0.4858:0.0	.	266	A1KZ92	PXDNL_HUMAN	M	266	ENSP00000348645:I266M;ENSP00000444865:I266M	ENSP00000348645:I266M	I	-	3	3	PXDNL	52547314	1.000000	0.71417	0.068000	0.19968	0.041000	0.13682	0.539000	0.23175	-0.244000	0.09639	0.477000	0.44152	ATT	PXDNL	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000147485		0.443	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0	86	0	A	NM_144651		52384761	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	34.78	45	24	SNP	0.997	C	C	52384761	A	C	52384761	3	2	74	1	0	0	0	0	1	0	0	0	12893	10	1	4	3657	4	PXDNL	8	52384761	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	10592754	52384761	93979261	94	19744											
CHD7	55636	genome.wustl.edu	37	chr8	61750713	61750713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcatggatgaggaggatGaagggtctaaattctgtgaa	13	10	13	5	0	3	3	1	3	2	0	3	6	3	6	0	4	0	0	0	4	4	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:61750713G>A	ENST00000423902.2	+	19	4911	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1478					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAGGAGGATGAAGGGTCTAA	0.408																																																	0													65	59	61					8																	61750713		1897	4121	6018	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4432G>A	8.37:g.61750713G>A	ENSP00000392028:p.Glu1478Lys		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1478K	ENST00000423902.2	37	c.4432	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.433318	0.96150	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.84589	-1.87	5.32	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	L	0.45352	1.415	0.80722	D	1	B	0.24368	0.102	B	0.40256	0.324	D	0.84111	0.0401	10	0.72032	D	0.01	-22.0109	14.5591	0.68123	0.0708:0.0:0.9292:0.0	.	1478	Q9P2D1	CHD7_HUMAN	K	1478	ENSP00000392028:E1478K	ENSP00000307304:E1478K	E	+	1	0	CHD7	61913267	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.813000	0.99286	1.391000	0.46566	0.655000	0.94253	GAA	CHD7	-	superfamily_P-loop_NTPase	ENSG00000171316		0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	113	0	G	XM_098762		61750713	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	missense	30.19	74	32	SNP	1.000	A	A	61750713	G	A	61750713	3	1	74	1	0	0	0	0	1	0	0	0	3337	1291	45	3	4502	3	CHD7	8	61750713	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	9365952	61750713	84613309	95	19745											
TRPA1	8989	genome.wustl.edu	37	chr8	72935276	72935276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcatcctctgtctcagaGatgatctccatcttctgaat	9	15	5	12	0	7	3	3	2	5	1	10	4	8	3	2	0	0	0	2	0	1	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:72935276G>A	ENST00000262209.4	-	27	3432	c.3225C>T	c.(3223-3225)atC>atT	p.I1075I	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1075					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTCTCAGAGATGATCTCCA	0.388																																																	0													193	166	175					8																	72935276		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.3225C>T	8.37:g.72935276G>A			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I1075	ENST00000262209.4	37	c.3225	CCDS34908.1	8																																																																																			TRPA1	-	NULL	ENSG00000104321		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	71	0	G	NM_007332		72935276	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	32.89	51	25	SNP	1.000	A	A	72935276	G	A	72935276	2	1	74	1	0	0	0	0	0	0	0	1	16625	932	33	3		3	TRPA1	8	72935276	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	11184563	72935276	73428746	96	19746											
ATAD2	29028	genome.wustl.edu	37	chr8	124335278	124335279	+	Frame_Shift_Ins	INS	-	-	T																															aaatatgttgtagttttgacINStttttttaacaacagtcttc																										TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:124335278_124335279insT	ENST00000287394.5	-	27	4137_4138	c.4030_4031insA	c.(4030-4032)agtfs	p.S1344fs	ATAD2_ENST00000521903.1_Frame_Shift_Ins_p.S662fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1344					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAGTTTTGACTTTTTTTAACA	0.317																																																	0																																										SO:0001589	frameshift_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.4031dupA	8.37:g.124335285_124335285dupT	ENSP00000287394:p.Ser1344fs		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S1344fs	ENST00000287394.5	37	c.4031_4030	CCDS6343.1	8																																																																																			ATAD2	-	NULL	ENSG00000156802		0.317	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0	80	0	-	NM_014109		124335279	-1	tier1		no_errors	ENST00000287394	ensembl	human	known	74_37	frame_shift_ins	29.27	58	24	INS	0.997:1.000	T	T	124335279	-	T	124335278	7	5	74	1	0	1	1	0	0	0	0	0	1072	565	20	0	149	0	ATAD2	8	124335278	Frame_Shift_Ins	INS	-	TCGA-L5-A88W-01A-11D-A351-09	51400002	124335278	22028744	97	19747											
EFR3A	23167	genome.wustl.edu	37	chr8	132991105	132991105	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatcaggtgacctctggAtataaagcgaagacgattgt	14	10	11	6	2	2	2	1	1	1	1	2	6	2	3	1	2	1	0	1	2	5	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:132991105A>T	ENST00000254624.5	+	13	1563	c.1338A>T	c.(1336-1338)ggA>ggT	p.G446G	EFR3A_ENST00000519656.1_Silent_p.G410G|EFR3A_ENST00000334503.4_Silent_p.G446G	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	446						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGACCTCTGGATATAAAGCGA	0.383																																																	0													115	98	104					8																	132991105		2203	4300	6503	SO:0001819	synonymous_variant	0			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1338A>T	8.37:g.132991105A>T			A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Silent	SNP	superfamily_ARM-type_fold	p.G446	ENST00000254624.5	37	c.1338	CCDS34942.2	8																																																																																			EFR3A	-	superfamily_ARM-type_fold	ENSG00000132294		0.383	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	-	0	67	0	A	NM_015137		132991105	1	tier1	-	no_errors	ENST00000254624	ensembl	human	known	74_37	silent	32.39	48	23	SNP	0.990	T	T	132991105	A	T	132991105	2	4	74	1	0	0	0	0	0	0	0	1	4972	320	12	5		5	EFR3A	8	132991105	Silent	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	8655827	132991105	13372917	98	19748											
RPL8	6132	genome.wustl.edu	37	chr8	146015317	146015317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgccgatgtgctggtGgttgccacctccaaaaggat	7	10	14	10	1	0	0	0	0	0	0	1	2	1	1	4	4	3	3	4	4	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr8:146015317G>A	ENST00000262584.3	-	6	878	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000394920.2_Missense_Mutation_p.H216Y|RPL8_ENST00000527914.1_Missense_Mutation_p.H107Y|RPL8_ENST00000528957.1_Missense_Mutation_p.H216Y|RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	216					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ATGTGCTGGTGGTTGCCACCT	0.647																																																	0													85	84	84					8																	146015317		2203	4300	6503	SO:0001583	missense	0			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"L ribosomal proteins"	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.646C>T	8.37:g.146015317G>A	ENSP00000262584:p.His216Tyr		A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2	p.H216Y	ENST00000262584.3	37	c.646	CCDS6433.1	8	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624907	0.87560	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813;ENST00000533397	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	4.94	4.94	0.65067	Translation protein SH3-like (1);Ribosomal protein L2, domain 3 (1);Ribosomal protein L2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97483	0.9176	H	0.98155	4.16	0.80722	D	1	D;B	0.55385	0.971;0.105	D;B	0.65140	0.932;0.202	D	0.98860	1.0762	10	0.87932	D	0	-2.3228	16.0872	0.81065	0.0:0.0:1.0:0.0	.	216;180	P62917;E9PIZ3	RL8_HUMAN;.	Y	216;107;216;180;195	ENSP00000378378:H216Y;ENSP00000436460:H107Y;ENSP00000262584:H216Y;ENSP00000435313:H195Y	ENSP00000262584:H216Y	H	-	1	0	RPL8	145986121	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.425000	0.90270	2.477000	0.83638	0.485000	0.47835	CAC	RPL8	-	pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2	ENSG00000161016		0.647	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	HGNC	protein_coding	OTTHUMT00000382948.1	-	0	54	0	G	NM_000973		146015317	-1	tier1	-	no_errors	ENST00000262584	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	A	A	146015317	G	A	146015317	3	1	74	1	0	0	0	0	1	0	0	0	13647	1348	47	3	131	3	RPL8	8	146015317	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	13024212	146015317	348705	99	19749											
CCIN	881	genome.wustl.edu	37	chr9	36170954	36170954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctgcgtgcacagccaccgGcagagtgtggaaatcaatct	10	8	11	12	2	3	1	1	0	2	1	3	2	3	2	2	2	3	2	2	2	2	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr9:36170954G>A	ENST00000335119.2	+	1	1566	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	485					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACAGCCACCGGCAGAGTGTGG	0.562																																																	0													142	125	131					9																	36170954		2203	4300	6503	SO:0001819	synonymous_variant	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1455G>A	9.37:g.36170954G>A			Q9BXG7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R485	ENST00000335119.2	37	c.1455	CCDS6599.1	9																																																																																			CCIN	-	NULL	ENSG00000185972		0.562	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1		0	35	0	G	NM_005893		36170954	1			no_errors	ENST00000335119	ensembl	human	known	74_37	silent	8.82	31	3	SNP	1.000	A	A	36170954	G	A	36170954	2	1	74	1	0	0	0	0	0	0	0	1	2885	1190	42	3		3	CCIN	9	36170954	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		36170954	105042477	100	19750											
PHF2	5253	genome.wustl.edu	37	chr9	96420446	96420446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctctcacaaatctgggaaGcagctgccccctcatctagt	9	9	9	14	0	4	0	2	0	3	0	5	1	4	1	2	2	3	3	2	2	3	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr9:96420446G>T	ENST00000359246.4	+	10	1534	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	389					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AATCTGGGAAGCAGCTGCCCC	0.562																																																	0													54	51	52					9																	96420446		2203	4300	6503	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1167G>T	9.37:g.96420446G>T	ENSP00000352185:p.Lys389Asn		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.K389N	ENST00000359246.4	37	c.1167	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255479	0.22965	.	.	ENSG00000197724	ENST00000359246	T	0.41758	0.99	4.51	0.479	0.16796	.	0.270092	0.40640	N	0.001060	T	0.33614	0.0869	L	0.54323	1.7	0.80722	D	1	B	0.21821	0.061	B	0.09377	0.004	T	0.10337	-1.0634	10	0.46703	T	0.11	-8.0773	9.3826	0.38322	0.4072:0.0:0.5928:0.0	.	389	O75151	PHF2_HUMAN	N	389	ENSP00000352185:K389N	ENSP00000352185:K389N	K	+	3	2	PHF2	95460267	1.000000	0.71417	0.995000	0.50966	0.621000	0.37620	1.634000	0.37123	-0.098000	0.12285	-0.339000	0.08088	AAG	PHF2	-	NULL	ENSG00000197724		0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0	71	0	G	NM_005392		96420446	1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.997	T	T	96420446	G	T	96420446	3	4	74	1	0	0	0	0	1	0	0	0	11869	962	34	3	1205	3	PHF2	9	96420446	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	60249492	96420446	44792985	101	19751											
BRD3	8019	genome.wustl.edu	37	chr9	136913402	136913402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgcgtgctggggcacctCgccgtcctccaggtccttct	2	10	12	17	3	1	0	0	0	1	0	5	0	4	0	6	3	2	2	6	3	0	1	rs531283531		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr9:136913402C>T	ENST00000303407.7	-	6	1074	c.889G>A	c.(889-891)Gag>Aag	p.E297K	BRD3_ENST00000357885.2_Missense_Mutation_p.E297K|BRD3_ENST00000371834.2_Missense_Mutation_p.E297K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	297					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TGGGGCACCTCGCCGTCCTCC	0.657			T	C15orf55	lethal midline carcinoma of young people								C|||	1	0.000199681	0	0	5008	,	,		15540	0		0	False		,,,				2504	0.001							Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													53	46	49					9																	136913402		2202	4300	6502	SO:0001583	missense	0				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"RING3-like"	601541	"bromodomain-containing 3"			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.889G>A	9.37:g.136913402C>T	ENSP00000305918:p.Glu297Lys		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E297K	ENST00000303407.7	37	c.889	CCDS6980.1	9	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502336	0.64298	.	.	ENSG00000169925	ENST00000303407;ENST00000371834;ENST00000357885	T;T;T	0.09350	3.27;2.99;2.99	4.86	4.86	0.63082	Bromodomain (1);	0.066550	0.64402	D	0.000016	T	0.11239	0.0274	L	0.56769	1.78	0.58432	D	0.999998	P;B	0.36660	0.564;0.118	B;B	0.28011	0.085;0.013	T	0.15636	-1.0430	10	0.13853	T	0.58	-38.0486	16.9538	0.86252	0.0:1.0:0.0:0.0	.	297;297	Q15059-2;Q15059	.;BRD3_HUMAN	K	297	ENSP00000305918:E297K;ENSP00000360900:E297K;ENSP00000350557:E297K	ENSP00000305918:E297K	E	-	1	0	BRD3	135903223	.	.	0.996000	0.52242	0.982000	0.71751	.	.	2.243000	0.73865	0.491000	0.48974	GAG	BRD3	-	superfamily_Bromodomain	ENSG00000169925		0.657	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	-	0	29	0	C	NM_007371		136913402	-1	tier1	-	no_errors	ENST00000303407	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	T	T	136913402	C	T	136913402	3	4	74	1	0	0	0	0	1	0	0	0	1507	893	31	1	1319	1	BRD3	9	136913402	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	40492956	136913402	4300029	102	19752											
AKR1E2	83592	genome.wustl.edu	37	chr10	4882000	4882000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccgtgactgcttaccGtcctcttggtggctcgtggt	2	15	13	11	3	1	1	0	1	1	0	4	1	3	1	3	3	2	2	3	3	1	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:4882000G>A	ENST00000298375.7	+	6	733	c.662G>A	c.(661-663)cGt>cAt	p.R221H	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000532248.1_Intron|AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000345253.5_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	221						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ACTGCTTACCGTCCTCTTGGT	0.468																																					NSCLC(43;343 1097 20371 28813 45509)												0													189	155	166					10																	4882000		2203	4300	6503	SO:0001583	missense	0			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"Aldo-keto reductases"	23437	protein-coding gene	gene with protein product			"aldo-keto reductase family 1, member C-like 2"	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.662G>A	10.37:g.4882000G>A	ENSP00000298375:p.Arg221His		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.R221H	ENST00000298375.7	37	c.662	CCDS31134.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.653|8.653	0.898746|0.898746	0.17686|0.17686	.|.	.|.	ENSG00000165568|ENSG00000165568	ENST00000462718;ENST00000298375|ENST00000487985	T|.	0.24908|.	1.83|.	4.22|4.22	-0.0238|-0.0238	0.13941|0.13941	NADP-dependent oxidoreductase domain (3);|.	0.276346|.	0.39210|.	N|.	0.001439|.	T|T	0.22781|0.22781	0.0550|0.0550	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B|.	0.25312|.	0.123|.	B|.	0.24701|.	0.055|.	T|T	0.04796|0.04796	-1.0926|-1.0926	10|5	0.72032|.	D|.	0.01|.	.|.	4.1056|4.1056	0.10035|0.10035	0.1977:0.0:0.4882:0.314|0.1977:0.0:0.4882:0.314	.|.	221|.	Q96JD6|.	AKCL2_HUMAN|.	H|I	117;221|9	ENSP00000298375:R221H|.	ENSP00000298375:R221H|.	R|V	+|+	2|1	0|0	AKR1E2|AKR1E2	4872000|4872000	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.342000|0.342000	0.28953|0.28953	2.998000|2.998000	0.49465|0.49465	0.002000|0.002000	0.14630|0.14630	0.561000|0.561000	0.74099|0.74099	CGT|GTC	AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000165568		0.468	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	-	0	57	0	G	NM_031436		4882000	1	tier1	-	no_errors	ENST00000298375	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	4882000	G	A	4882000	3	1	74	1	0	0	0	0	1	0	0	0	474	1145	40	1	684	1	AKR1E2	10	4882000	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		4882000	130652747	103	19753											
ITIH2	3698	genome.wustl.edu	37	chr10	7780587	7780587	+	Frame_Shift_Del	DEL	C	C	-																															caggtttgtctacgcaggggCcctgtattacggcagcaaag																								rs184798502		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:7780587delC	ENST00000358415.4	+	16	2127	c.1961delC	c.(1960-1962)gccfs	p.A654fs	ITIH2_ENST00000379587.4_Frame_Shift_Del_p.A643fs	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	654					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TACGCAGGGGCCCTGTATTAC	0.502																																																	0													110	100	103					10																	7780587		2203	4300	6503	SO:0001589	frameshift_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1961delC	10.37:g.7780587delC	ENSP00000351190:p.Ala654fs		Q14659|Q15484|Q5T986	Frame_Shift_Del	DEL	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.L655fs	ENST00000358415.4	37	c.1961	CCDS31141.1	10																																																																																			ITIH2	-	NULL	ENSG00000151655		0.502	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2		0	75	0	C	NM_002216		7780587	1	tier1		no_errors	ENST00000358415	ensembl	human	known	74_37	frame_shift_del	39.51	49	32	DEL	0.901	-	-	7780587	C	-	7780587	7	5	74	1	0	1	0	1	0	0	0	0	7931	739	26	0	2023	0	ITIH2	10	7780587	Frame_Shift_Del	DEL	C	TCGA-L5-A88W-01A-11D-A351-09	2898587	7780587	127754160	104	19754											
KIF20B	9585	genome.wustl.edu	37	chr10	91528563	91528563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatccataattggtgtaaaCctggccactaagaaaaaaga	17	8	8	8	0	0	2	0	0	0	2	1	2	1	2	3	2	1	2	3	2	7	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:91528563C>A	ENST00000371728.3	+	31	5225	c.5160C>A	c.(5158-5160)aaC>aaA	p.N1720K	KIF20B_ENST00000416354.1_Missense_Mutation_p.N1750K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.N1680K	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1720	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGGTGTAAACCTGGCCACTA	0.333																																																	0													100	102	101					10																	91528563		2203	4300	6503	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5160C>A	10.37:g.91528563C>A	ENSP00000360793:p.Asn1720Lys		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N1750K	ENST00000371728.3	37	c.5250		10	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538223	0.27475	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.39997	1.05;1.05;1.05	5.5	1.12	0.20585	.	0.217785	0.32473	N	0.006055	T	0.38772	0.1053	N	0.25144	0.715	0.09310	N	0.999998	D;B	0.69078	0.997;0.017	D;B	0.75484	0.986;0.011	T	0.19976	-1.0289	10	0.21540	T	0.41	-10.6084	3.6107	0.08060	0.1155:0.482:0.2473:0.1551	.	1720;1680	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	K	1680;1750;1720	ENSP00000260753:N1680K;ENSP00000411545:N1750K;ENSP00000360793:N1720K	ENSP00000260753:N1680K	N	+	3	2	KIF20B	91518543	0.000000	0.05858	0.005000	0.12908	0.901000	0.52897	-1.670000	0.01956	0.270000	0.21984	-0.228000	0.12330	AAC	KIF20B	-	NULL	ENSG00000138182		0.333	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	96	0	C	NM_016195		91528563	1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	32.67	68	33	SNP	0.001	A	A	91528563	C	A	91528563	3	1	74	1	0	0	0	0	1	0	0	0	8314	506	18	3	5158	3	KIF20B	10	91528563	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	83747976	91528563	44006184	105	19755											
PLCE1	51196	genome.wustl.edu	37	chr10	95993828	95993828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtcaagaaaagttttaaAaatgtggcagttcatggacc	15	11	10	5	0	2	1	2	0	0	1	2	2	2	2	1	3	0	3	1	3	7	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:95993828A>T	ENST00000371380.3	+	5	2208	c.1973A>T	c.(1972-1974)aAa>aTa	p.K658I	PLCE1_ENST00000260766.3_Missense_Mutation_p.K658I|PLCE1_ENST00000371385.3_Missense_Mutation_p.K350I|PLCE1_ENST00000371375.1_Missense_Mutation_p.K350I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	658	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAGTTTTAAAAATGTGGCAG	0.398																																																	0													63	61	62					10																	95993828		1897	4113	6010	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"nephrosis type 3"	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1973A>T	10.37:g.95993828A>T	ENSP00000360431:p.Lys658Ile		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.K658I	ENST00000371380.3	37	c.1973	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	A	26.8	4.772588	0.90108	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	5.77	5.77	0.91146	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.54323	1.7	0.48087	D	0.99958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.57100	-0.7869	10	0.59425	D	0.04	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	658;350;658	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	658;658;350;350	ENSP00000260766:K658I;ENSP00000360431:K658I;ENSP00000360438:K350I;ENSP00000360426:K350I	ENSP00000260766:K658I	K	+	2	0	PLCE1	95983818	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.870000	0.92336	2.330000	0.79161	0.528000	0.53228	AAA	PLCE1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000138193		0.398	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0	66	0	A	NM_016341		95993828	1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	38.67	46	29	SNP	1.000	T	T	95993828	A	T	95993828	3	4	74	1	0	0	0	0	1	0	0	0	12073	14	1	5	2277	5	PLCE1	10	95993828	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	4465265	95993828	39540919	106	19756											
SORCS3	22986	genome.wustl.edu	37	chr10	106907465	106907465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtacaacctctacatctcaGacacgcgtgggatttacttc	10	11	7	13	3	2	1	1	0	2	1	4	2	2	2	1	1	4	1	1	1	4	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:106907465G>A	ENST00000369701.3	+	9	1620	c.1393G>A	c.(1393-1395)Gac>Aac	p.D465N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	465					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTACATCTCAGACACGCGTGG	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)												0													263	209	227					10																	106907465		2203	4299	6502	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1393G>A	10.37:g.106907465G>A	ENSP00000358715:p.Asp465Asn		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.D465N	ENST00000369701.3	37	c.1393	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.427483	0.96131	.	.	ENSG00000156395	ENST00000369701	T	0.35973	1.28	5.42	5.42	0.78866	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	M	0.81497	2.545	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.67722	-0.5597	10	0.72032	D	0.01	.	19.597	0.95544	0.0:0.0:1.0:0.0	.	465	Q9UPU3	SORC3_HUMAN	N	465	ENSP00000358715:D465N	ENSP00000358715:D465N	D	+	1	0	SORCS3	106897455	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.716000	0.92895	0.650000	0.86243	GAC	SORCS3	-	smart_VPS10	ENSG00000156395		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	142	0	G	NM_014978		106907465	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	35.96	73	41	SNP	1.000	A	A	106907465	G	A	106907465	3	1	74	1	0	0	0	0	1	0	0	0	14977	942	33	3	1427	3	SORCS3	10	106907465	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	10913637	106907465	28627282	107	19757											
FAM175B	23172	genome.wustl.edu	37	chr10	126523241	126523241	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcacccaaacaatcaaGaaagtactttgagccactct	15	11	4	11	0	3	2	2	1	1	1	3	2	3	2	2	0	3	1	2	0	5	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr10:126523241G>T	ENST00000298492.5	+	9	994	c.949G>T	c.(949-951)Gaa>Taa	p.E317*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	317					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						AAACAATCAAGAAAGTACTTT	0.517																																																	0													109	90	96					10																	126523241		2203	4300	6503	SO:0001587	stop_gained	0			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"Abraxas brother"	611144	"KIAA0157"	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.949G>T	10.37:g.126523241G>T	ENSP00000298492:p.Glu317*		B4DKR2|Q96H11	Nonsense_Mutation	SNP	prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175	p.E317*	ENST00000298492.5	37	c.949	CCDS31308.2	10	.	.	.	.	.	.	.	.	.	.	G	33	5.239195	0.95240	.	.	ENSG00000165660	ENST00000298492	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-1.7317	18.6193	0.91316	0.0:0.0:1.0:0.0	.	.	.	.	X	317	.	ENSP00000298492:E317X	E	+	1	0	FAM175B	126513231	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.984000	0.63838	2.836000	0.97738	0.655000	0.94253	GAA	FAM175B	-	NULL	ENSG00000165660		0.517	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175B	HGNC	protein_coding	OTTHUMT00000050891.2		0	73	0	G	NM_032182		126523241	1			no_errors	ENST00000298492	ensembl	human	known	74_37	nonsense	6.25	45	3	SNP	1.000	T	T	126523241	G	T	126523241	4	4	74	1	0	0	0	0	0	1	0	0	5517	943	33	3	983	3	FAM175B	10	126523241	Nonsense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	19615776	126523241	9011506	108	19758											
LRDD	55367	genome.wustl.edu	37	chr11	801462	801462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacctgcatggagactcgacGaggctcctcagtggccccag	8	7	12	14	2	1	1	1	0	0	1	3	4	2	1	4	3	2	2	4	3	1	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:801462G>C	ENST00000347755.5	-	8	1606	c.1465C>G	c.(1465-1467)Cgt>Ggt	p.R489G	PIDD_ENST00000411829.2_Missense_Mutation_p.R489G|PIDD_ENST00000534649.1_5'Flank	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					GAGACTCGACGAGGCTCCTCA	0.672																																																	0													22	23	23					11																	801462		2184	4292	6476	SO:0001583	missense	0																														ENST00000347755.5:c.1465C>G	11.37:g.801462G>C	ENSP00000337797:p.Arg489Gly			Missense_Mutation	SNP	pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.R489G	ENST00000347755.5	37	c.1465	CCDS7716.1	11	.	.	.	.	.	.	.	.	.	.	g	13.79	2.342481	0.41498	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.45276	0.9;0.9	4.06	1.14	0.20703	ZU5 (2);	0.087928	0.47852	U	0.000211	T	0.43255	0.1239	L	0.34521	1.04	0.36137	D	0.846505	D;D;P;D	0.64830	0.978;0.994;0.946;0.991	P;D;P;P	0.63793	0.772;0.918;0.601;0.873	T	0.48927	-0.8991	10	0.66056	D	0.02	.	4.9608	0.14065	0.2451:0.0:0.6077:0.1472	.	176;489;343;489	Q9HB75-5;Q9HB75;Q9HB75-3;Q9HB75-2	.;PIDD_HUMAN;.;.	G	489	ENSP00000416801:R489G;ENSP00000337797:R489G	ENSP00000337797:R489G	R	-	1	0	PIDD	791462	0.996000	0.38824	0.006000	0.13384	0.496000	0.33645	4.182000	0.58310	0.064000	0.16427	0.457000	0.33378	CGT	PIDD	-	pfam_ZU5,pfscan_ZU5	ENSG00000177595		0.672	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000257103.1	-	0	59	0	G			801462	-1	tier1	-	no_errors	ENST00000347755	ensembl	human	known	74_37	missense	23.08	40	12	SNP	0.950	C	C	801462	G	C	801462	3	2	74	1	0	0	0	0	1	0	0	0	8971	1058	37	5	1303	5	LRDD	11	801462	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		801462	134205054	109	19759											
USP47	55031	genome.wustl.edu	37	chr11	11974404	11974404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaagcagtagtgtggacGaattgcgagagaaggtaagt	14	8	16	3	2	0	1	0	0	0	1	0	6	0	3	0	3	2	3	0	3	5	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:11974404G>A	ENST00000399455.2	+	26	3880	c.3760G>A	c.(3760-3762)Gaa>Aaa	p.E1254K	USP47_ENST00000305481.6_3'UTR|USP47_ENST00000339865.5_Missense_Mutation_p.E1166K|USP47_ENST00000527733.1_Missense_Mutation_p.E1234K|USP47_ENST00000539466.1_Missense_Mutation_p.E36K	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1254					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAGTGTGGACGAATTGCGAGA	0.343																																																	0													145	132	136					11																	11974404		1862	4102	5964	SO:0001583	missense	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3760G>A	11.37:g.11974404G>A	ENSP00000382382:p.Glu1254Lys		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.E1254K	ENST00000399455.2	37	c.3760		11	.	.	.	.	.	.	.	.	.	.	G	36	5.872571	0.97049	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000539466;ENST00000399455	T;T;T	0.04809	3.56;3.56;3.55	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	M	0.68317	2.08	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.71184	0.972;0.97	T	0.00016	-1.2389	10	0.72032	D	0.01	.	19.6795	0.95957	0.0:0.0:1.0:0.0	.	1234;1166	E9PM46;Q96K76-2	.;.	K	1166;1234;36;1254	ENSP00000339957:E1166K;ENSP00000433146:E1234K;ENSP00000382382:E1254K	ENSP00000339957:E1166K	E	+	1	0	USP47	11930980	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.695000	0.98691	2.821000	0.97095	0.650000	0.86243	GAA	USP47	-	NULL	ENSG00000170242		0.343	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	-	0	163	0	G	NM_017944		11974404	1	tier1	-	no_errors	ENST00000399455	ensembl	human	known	74_37	missense	40.41	87	59	SNP	1.000	A	A	11974404	G	A	11974404	3	1	74	1	0	0	0	0	1	0	0	0	17127	1059	37	1	3590	1	USP47	11	11974404	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	11172942	11974404	123032112	110	19760											
CD59	966	genome.wustl.edu	37	chr11	33743972	33743972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcccgaacaggacaGaccctccttggattcccatt	10	7	9	15	1	0	1	0	0	0	1	2	4	2	3	4	2	3	2	4	2	1	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:33743972G>T	ENST00000395850.3	-	2	95	c.20C>A	c.(19-21)tCt>tAt	p.S7Y	CD59_ENST00000351554.3_Missense_Mutation_p.S7Y|CD59_ENST00000533403.1_Missense_Mutation_p.S7Y|CD59_ENST00000445143.2_Missense_Mutation_p.S7Y|CD59_ENST00000527577.1_Missense_Mutation_p.S7Y|CD59_ENST00000415002.2_Missense_Mutation_p.S7Y|CD59_ENST00000534312.1_Missense_Mutation_p.S7Y|CD59_ENST00000437761.2_Missense_Mutation_p.S7Y|CD59_ENST00000528700.1_Missense_Mutation_p.S7Y|CD59_ENST00000426650.2_Missense_Mutation_p.S7Y	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	7					blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						GAACAGGACAGACCCTCCTTG	0.527																																																	0													167	131	143					11																	33743972		2202	4298	6500	SO:0001583	missense	0				CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"CD molecules", "Complement system"	1689	protein-coding gene	gene with protein product		107271	"CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)", "CD59 antigen, complement regulatory protein"	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.20C>A	11.37:g.33743972G>T	ENSP00000379191:p.Ser7Tyr			Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.S7Y	ENST00000395850.3	37	c.20	CCDS7886.1	11	.	.	.	.	.	.	.	.	.	.	G	1.118	-0.656107	0.03480	.	.	ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000533403;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700	D;D;T	0.92752	-3.1;-3.1;-1.17	3.85	0.124	0.14714	.	0.813640	0.11263	N	0.582403	T	0.77864	0.4194	N	0.13043	0.29	0.09310	N	1	B;B	0.16603	0.018;0.003	B;B	0.12837	0.008;0.004	T	0.64114	-0.6483	10	0.02654	T	1	0.5382	2.7598	0.05303	0.48:0.0:0.1181:0.4019	.	7;7	E9PI80;P13987	.;CD59_HUMAN	Y	7	ENSP00000432362:S7Y;ENSP00000437122:S7Y;ENSP00000436737:S7Y	ENSP00000340210:S7Y	S	-	2	0	CD59	33700548	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.447000	0.21710	0.001000	0.14605	-0.367000	0.07326	TCT	CD59	-	NULL	ENSG00000085063		0.527	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CD59	HGNC	protein_coding	OTTHUMT00000388809.1	-	0	65	0	G	NM_203329		33743972	-1	tier1	-	no_errors	ENST00000351554	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T	T	33743972	G	T	33743972	3	4	74	1	0	0	0	0	1	0	0	0	3033	942	33	3	378	3	CD59	11	33743972	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	21769568	33743972	101262544	111	19761											
FBXO3	26273	genome.wustl.edu	37	chr11	33763561	33763561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccatatctgctgaatcatCatcctcgtcttcctcctctt	7	16	3	15	1	5	1	2	1	3	0	10	1	9	1	4	0	1	1	4	0	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:33763561C>G	ENST00000265651.3	-	11	1327	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	FBXO3_ENST00000526785.1_Missense_Mutation_p.D324H|FBXO3_ENST00000531080.1_Missense_Mutation_p.D124H|FBXO3_ENST00000532057.1_Missense_Mutation_p.D124H|FBXO3_ENST00000530401.1_3'UTR	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	437	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GCTGAATCATCAtcctcgtct	0.453																																																	0													191	145	160					11																	33763561		2202	4298	6500	SO:0001583	missense	0			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1309G>C	11.37:g.33763561C>G	ENSP00000265651:p.Asp437His		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom	p.D437H	ENST00000265651.3	37	c.1309	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598394	0.28445	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.71461	-0.57;-0.51;-0.57;-0.57	3.8	3.8	0.43715	.	0.858950	0.09693	N	0.768159	T	0.61299	0.2336	N	0.19112	0.55	0.80722	D	1	B	0.31910	0.346	B	0.34991	0.193	T	0.61618	-0.7026	10	0.87932	D	0	-4.408	14.3255	0.66518	0.0:1.0:0.0:0.0	.	437	Q9UK99	FBX3_HUMAN	H	324;437;124;124	ENSP00000435680:D324H;ENSP00000265651:D437H;ENSP00000435165:D124H;ENSP00000434001:D124H	ENSP00000265651:D437H	D	-	1	0	FBXO3	33720137	0.992000	0.36948	0.560000	0.28344	0.596000	0.36781	4.091000	0.57700	2.064000	0.61679	0.561000	0.74099	GAT	FBXO3	-	NULL	ENSG00000110429		0.453	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	-	0	35	0	C	NM_012175		33763561	-1	tier1	-	no_errors	ENST00000265651	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.949	G	G	33763561	C	G	33763561	3	3	74	1	0	0	0	0	1	0	0	0	5761	826	29	5	110	5	FBXO3	11	33763561	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	19589	33763561	101242955	112	19762											
C11orf74	119710	genome.wustl.edu	37	chr11	36669570	36669570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttgtatccaacagatttGctgctgcttccaggagaagt	9	14	10	8	0	0	2	0	0	0	2	2	3	2	2	2	1	4	5	2	1	3	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:36669570G>T	ENST00000334307.5	+	5	478	c.363G>T	c.(361-363)ttG>ttT	p.L121F	C11orf74_ENST00000446510.2_Missense_Mutation_p.L121F|C11orf74_ENST00000347206.4_Missense_Mutation_p.L47F|C11orf74_ENST00000534635.1_Missense_Mutation_p.L47F	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	121										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				CAACAGATTTGCTGCTGCTTC	0.438																																																	0													166	156	159					11																	36669570		2202	4298	6500	SO:0001583	missense	0			AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.363G>T	11.37:g.36669570G>T	ENSP00000334848:p.Leu121Phe		D3DR18|Q96DD6	Missense_Mutation	SNP	NULL	p.L121F	ENST00000334307.5	37	c.363	CCDS7904.1	11	.	.	.	.	.	.	.	.	.	.	G	7.029	0.560188	0.13498	.	.	ENSG00000166352	ENST00000334307;ENST00000531554;ENST00000347206;ENST00000534635;ENST00000446510;ENST00000527108	.	.	.	5.69	2.77	0.32553	.	0.915663	0.09301	N	0.820944	T	0.34483	0.0899	L	0.50333	1.59	0.21527	N	0.999655	B;B	0.29988	0.264;0.186	B;B	0.27170	0.077;0.063	T	0.25117	-1.0141	8	.	.	.	8.2856	6.1268	0.20184	0.1639:0.2906:0.5454:0.0	.	121;47	Q86VG3;Q86VG3-2	CK074_HUMAN;.	F	121;121;47;47;121;47	.	.	L	+	3	2	C11orf74	36626146	0.941000	0.31946	0.991000	0.47740	0.080000	0.17528	1.048000	0.30379	0.322000	0.23283	-0.137000	0.14449	TTG	C11orf74	-	NULL	ENSG00000166352		0.438	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C11orf74	HGNC	protein_coding	OTTHUMT00000389567.1	-	0	95	0	G	NM_138787		36669570	1	tier1	-	no_errors	ENST00000334307	ensembl	human	known	74_37	missense	28.16	74	29	SNP	0.934	T	T	36669570	G	T	36669570	3	4	74	1	0	0	0	0	1	0	0	0	1667	1310	46	3	377	3	C11orf74	11	36669570	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	2906009	36669570	98336946	113	19763											
CKAP5	9793	genome.wustl.edu	37	chr11	46780957	46780957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attctcggcggaccatctggGctgcctcaggatgcccactc	6	9	11	15	2	3	0	1	0	2	0	5	2	3	2	3	4	2	1	3	4	0	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:46780957G>A	ENST00000529230.1	-	34	4476	c.4430C>T	c.(4429-4431)gCc>gTc	p.A1477V	CKAP5_ENST00000312055.5_Missense_Mutation_p.A1477V|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.A1477V|CKAP5_ENST00000354558.3_Missense_Mutation_p.A1477V|SNORD67_ENST00000516618.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1477					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GACCATCTGGGCTGCCTCAGG	0.493																																					Ovarian(4;85 273 2202 4844 13323)												0													94	89	91					11																	46780957		2201	4299	6500	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4430C>T	11.37:g.46780957G>A	ENSP00000432768:p.Ala1477Val		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.A1477V	ENST00000529230.1	37	c.4430	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544136	0.45280	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.45276	0.91;0.91;0.9;0.9	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.346086	0.33610	N	0.004722	T	0.33469	0.0864	L	0.27053	0.805	0.40390	D	0.979537	B;B;B	0.25609	0.034;0.13;0.079	B;B;B	0.30179	0.022;0.112;0.052	T	0.09997	-1.0649	10	0.22706	T	0.39	-3.6463	16.1254	0.81392	0.0:0.1335:0.8665:0.0	.	1477;1477;1477	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	V	1477;1477;1477;1477;208	ENSP00000432768:A1477V;ENSP00000395302:A1477V;ENSP00000310227:A1477V;ENSP00000346566:A1477V	ENSP00000310227:A1477V	A	-	2	0	CKAP5	46737533	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	4.175000	0.58263	2.755000	0.94549	0.650000	0.86243	GCC	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.493	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1		0	52	0	G	NM_014756		46780957	-1			no_errors	ENST00000415402	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	46780957	G	A	46780957	3	1	74	1	0	0	0	0	1	0	0	0	3452	1203	42	3	1712	3	CKAP5	11	46780957	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	10111387	46780957	88225559	114	19764											
PSMC3	5702	genome.wustl.edu	37	chr11	47444219	47444219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccggactagcttggcacCatctccaatgaacatctgca	11	9	7	14	1	2	1	0	1	2	0	4	2	3	2	3	2	3	3	3	2	3	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:47444219C>A	ENST00000298852.3	-	8	947	c.790G>T	c.(790-792)Ggt>Tgt	p.G264C	PSMC3_ENST00000530912.1_Missense_Mutation_p.G222C|PSMC3_ENST00000602866.1_Missense_Mutation_p.G248C	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	264					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of RNA biosynthetic process (GO:2001141)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCTTGGCACCATCTCCAATG	0.557																																																	0													83	76	78					11																	47444219		2201	4298	6499	SO:0001583	missense	0			M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.790G>T	11.37:g.47444219C>A	ENSP00000298852:p.Gly264Cys		B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.G264C	ENST00000298852.3	37	c.790	CCDS7935.1	11	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262454	0.59431	.	.	ENSG00000165916	ENST00000298852;ENST00000530912;ENST00000524447;ENST00000531051;ENST00000530887;ENST00000530651	D;D	0.93488	-3.23;-3.23	4.98	4.98	0.66077	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.050778	0.85682	D	0.000000	D	0.97648	0.9229	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	-19.3101	18.2683	0.90059	0.0:1.0:0.0:0.0	.	222;264	E9PM69;P17980	.;PRS6A_HUMAN	C	264;222;208;208;229;229	ENSP00000298852:G264C;ENSP00000433097:G222C	ENSP00000298852:G264C	G	-	1	0	PSMC3	47400795	1.000000	0.71417	0.816000	0.32577	0.020000	0.10135	7.813000	0.86123	2.314000	0.78098	0.561000	0.74099	GGT	PSMC3	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000165916		0.557	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMC3	HGNC	protein_coding	OTTHUMT00000395660.2	-	0	77	0	C	NM_002804		47444219	-1	tier1	-	no_errors	ENST00000298852	ensembl	human	known	74_37	missense	41.10	43	30	SNP	1.000	A	A	47444219	C	A	47444219	3	1	74	1	0	0	0	0	1	0	0	0	12729	594	21	3	549	3	PSMC3	11	47444219	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	663262	47444219	87562297	115	19765											
OR5AS1	219447	genome.wustl.edu	37	chr11	55798042	55798042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcttaataattctagttAatattaattcaagccttcaa	15	17	2	7	0	4	0	2	0	2	0	4	0	4	0	1	0	2	1	1	0	9	10			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:55798042A>G	ENST00000313555.1	+	1	148	c.148A>G	c.(148-150)Aat>Gat	p.N50D		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AATTCTAGTTAATATTAATTC	0.333																																																	0													51	56	54					11																	55798042		2201	4294	6495	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.148A>G	11.37:g.55798042A>G	ENSP00000324111:p.Asn50Asp		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N50D	ENST00000313555.1	37	c.148	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	A	4.996	0.184936	0.09495	.	.	ENSG00000181785	ENST00000313555	T	0.01076	5.37	5.63	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37178	U	0.002205	T	0.00845	0.0028	L	0.36672	1.1	0.09310	N	1	P	0.38922	0.651	B	0.29598	0.104	T	0.51957	-0.8639	10	0.36615	T	0.2	.	1.873	0.03212	0.4914:0.1479:0.0768:0.2839	.	50	Q8N127	O5AS1_HUMAN	D	50	ENSP00000324111:N50D	ENSP00000324111:N50D	N	+	1	0	OR5AS1	55554618	0.000000	0.05858	0.023000	0.16930	0.021000	0.10359	-0.703000	0.05063	0.364000	0.24374	-0.353000	0.07706	AAT	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181785		0.333	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	-	0	83	0	A	NM_001001921		55798042	1	tier1	-	no_errors	ENST00000313555	ensembl	human	known	74_37	missense	33.33	50	25	SNP	0.002	G	G	55798042	A	G	55798042	3	3	74	1	0	0	0	0	1	0	0	0	11185	362	13	4	150	4	OR5AS1	11	55798042	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	8353823	55798042	79208474	116	19766											
SLC22A11	55867	genome.wustl.edu	37	chr11	64329782	64329782	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagggcggtcaccatgacGgtggtgggatgtgccttcag	7	8	18	8	2	2	1	2	1	0	0	2	3	2	3	2	6	1	0	2	6	0	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:64329782G>T	ENST00000301891.4	+	4	1070	c.696G>T	c.(694-696)acG>acT	p.T232T	SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Silent_p.T232T|SLC22A11_ENST00000377581.3_Silent_p.T232T	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	232					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCACCATGACGGTGGTGGGAT	0.672																																																	0													68	67	67					11																	64329782		2201	4295	6496	SO:0001819	synonymous_variant	0			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"Solute carriers"	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.696G>T	11.37:g.64329782G>T			A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T232	ENST00000301891.4	37	c.696	CCDS8074.1	11																																																																																			SLC22A11	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168065		0.672	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A11	HGNC	protein_coding	OTTHUMT00000104886.4		0	42	0	G	NM_018484		64329782	1			no_errors	ENST00000301891	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.000	T	T	64329782	G	T	64329782	2	4	74	1	0	0	0	0	0	0	0	1	14487	1103	39	2		2	SLC22A11	11	64329782	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	8531740	64329782	70676734	117	19767											
NAALADL1	10004	genome.wustl.edu	37	chr11	64815123	64815123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtccctgggcttacctggGgaccaggccgtacaccgggc	5	7	14	15	2	0	0	0	0	0	0	1	1	1	1	5	5	2	2	5	5	2	2	rs202090288		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:64815123G>A	ENST00000358658.3	-	12	1531	c.1504C>T	c.(1504-1506)Ccc>Tcc	p.P502S	NAALADL1_ENST00000339885.2_Missense_Mutation_p.P502S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.P467S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.P502S|RN7SL114P_ENST00000582042.1_RNA|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P553S|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P461S|NAALADL1_ENST00000526799.1_5'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	502	NAALADase.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCTTACCTGGGGACCAGGCCG	0.672																																																	0													28	29	29					11																	64815123		2201	4297	6498	SO:0001583	missense	0			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1504C>T	11.37:g.64815123G>A	ENSP00000351484:p.Pro502Ser		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.P502S	ENST00000358658.3	37	c.1504	CCDS31604.1	11	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404077	0.42613	.	.	ENSG00000168060	ENST00000358658;ENST00000355369;ENST00000339885;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T;T	0.52295	1.07;0.88;0.67;1.07;1.07;1.07	5.01	3.01	0.34805	Peptidase M28 (1);	0.055063	0.85682	N	0.000000	T	0.68026	0.2956	M	0.86343	2.81	0.48511	D	0.999662	D	0.89917	1.0	D	0.85130	0.997	T	0.70417	-0.4877	10	0.72032	D	0.01	.	8.0341	0.30482	0.091:0.1613:0.7477:0.0	.	502	Q9UQQ1	NALDL_HUMAN	S	502;502;502;502;553;461;467	ENSP00000351484:P502S;ENSP00000347530:P502S;ENSP00000340111:P502S;ENSP00000344244:P553S;ENSP00000347955:P461S;ENSP00000349045:P467S	ENSP00000340111:P502S	P	-	1	0	NAALADL1	64571699	1.000000	0.71417	0.837000	0.33122	0.154000	0.21943	6.036000	0.70948	1.126000	0.42016	-0.266000	0.10368	CCC	NAALADL1	-	pfam_Peptidase_M28	ENSG00000168060		0.672	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL1	HGNC	protein_coding	OTTHUMT00000385162.1	-	0	54	0	G	NM_005468		64815123	-1	tier1	-	no_errors	ENST00000358658	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.986	A	A	64815123	G	A	64815123	3	1	74	1	0	0	0	0	1	0	0	0	10167	1232	43	3	746	3	NAALADL1	11	64815123	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	485341	64815123	70191393	118	19768											
LTBP3	4054	genome.wustl.edu	37	chr11	65315164	65315164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggcggcgctcacccaCgcacgagcgccccccggcgc	4	2	13	22	7	1	0	1	0	0	0	1	1	1	0	5	3	1	2	5	3	0	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:65315164C>T	ENST00000301873.5	-	13	2243	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M	LTBP3_ENST00000529189.1_5'Flank|LTBP3_ENST00000322147.4_Missense_Mutation_p.V659M|LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000532932.1_Missense_Mutation_p.V89M|LTBP3_ENST00000536982.1_Missense_Mutation_p.V285M	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	659	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCTCACCCACGCACGAGCGC	0.736																																																	0													9	11	10					11																	65315164		2166	4234	6400	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1975G>A	11.37:g.65315164C>T	ENSP00000301873:p.Val659Met		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.V659M	ENST00000301873.5	37	c.1975	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.74|12.74	2.027834|2.027834	0.35797|0.35797	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000526927|ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866	.|D;D;D;D;D	.|0.88277	.|-2.36;-2.36;-2.36;-2.36;-2.36	4.28|4.28	4.28|4.28	0.50868|0.50868	.|EGF-like calcium-binding (1);	.|1.352420	.|0.05158	.|N	.|0.497285	D|D	0.84288|0.84288	0.5439|0.5439	N|N	0.25245|0.25245	0.725|0.725	0.40011|0.40011	D|D	0.975288|0.975288	.|B;P;P;D;P;B	.|0.55385	.|0.223;0.59;0.796;0.971;0.68;0.313	.|B;B;B;B;B;B	.|0.42188	.|0.026;0.121;0.215;0.379;0.131;0.054	T|T	0.75977|0.75977	-0.3127|-0.3127	5|10	.|0.30854	.|T	.|0.27	.|.	14.2335|14.2335	0.65908|0.65908	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|570;285;542;659;659;89	.|E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2	.|.;.;.;LTBP3_HUMAN;.;.	H|M	309|659;659;89;285;570	.|ENSP00000326647:V659M;ENSP00000301873:V659M;ENSP00000435530:V89M;ENSP00000441912:V285M;ENSP00000435276:V570M	.|ENSP00000301873:V659M	R|V	-|-	2|1	0|0	LTBP3|LTBP3	65071740|65071740	0.971000|0.971000	0.33674|0.33674	1.000000|1.000000	0.80357|0.80357	0.384000|0.384000	0.30261|0.30261	0.492000|0.492000	0.22435|0.22435	2.215000|2.215000	0.71742|0.71742	0.313000|0.313000	0.20887|0.20887	CGT|GTG	LTBP3	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000168056		0.736	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0	68	0	C	NM_021070		65315164	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	missense	39.74	47	31	SNP	1.000	T	T	65315164	C	T	65315164	3	4	74	1	0	0	0	0	1	0	0	0	9110	536	19	1	2000	1	LTBP3	11	65315164	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	500041	65315164	69691352	119	19769											
CAPN5	726	genome.wustl.edu	37	chr11	76804733	76804733	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgccttctccgcagggcatCtgcgaggacccccgcctctt	4	9	10	18	4	3	0	0	0	3	0	5	2	3	1	5	2	1	2	5	2	0	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:76804733C>G	ENST00000278559.3	+	3	360	c.171C>G	c.(169-171)atC>atG	p.I57M	CAPN5_ENST00000529629.1_Missense_Mutation_p.I57M|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.I97M	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	57	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCAGGGCATCTGCGAGGACC	0.637																																																	0													38	30	33					11																	76804733		2196	4289	6485	SO:0001583	missense	0				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.171C>G	11.37:g.76804733C>G	ENSP00000278559:p.Ile57Met		O00263	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.I57M	ENST00000278559.3	37	c.171	CCDS8248.1	11	.	.	.	.	.	.	.	.	.	.	C	10.60	1.394614	0.25205	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000530987;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74	4.57	1.58	0.23477	Peptidase C2, calpain, catalytic domain (3);	0.136102	0.49916	D	0.000132	D	0.94496	0.8228	M	0.86097	2.795	0.37857	D	0.929586	P;D;D;P	0.76494	0.947;0.999;0.999;0.947	P;D;D;P	0.74348	0.805;0.977;0.983;0.805	D	0.93646	0.6969	10	0.72032	D	0.01	.	10.0311	0.42101	0.2523:0.6759:0.0:0.0718	.	95;97;97;57	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	M	57;57;26;97;57;97;97	ENSP00000278559:I57M;ENSP00000435894:I57M;ENSP00000432332:I57M;ENSP00000409996:I97M	ENSP00000278559:I57M	I	+	3	3	CAPN5	76482381	1.000000	0.71417	0.988000	0.46212	0.121000	0.20230	1.229000	0.32600	-0.066000	0.12998	-1.228000	0.01579	ATC	CAPN5	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000149260		0.637	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	HGNC	protein_coding	OTTHUMT00000382564.2	-	0	53	0	C	NM_004055		76804733	1	tier1	-	no_errors	ENST00000278559	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	G	G	76804733	C	G	76804733	3	3	74	1	0	0	0	0	1	0	0	0	2636	903	32	5	177	5	CAPN5	11	76804733	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	11489569	76804733	58201783	120	19770											
FAT3	120114	genome.wustl.edu	37	chr11	92532140	92532140	+	Silent	SNP	T	T	C																															cactttacacaaagcttctaTtccacctcaatctcagagaa																										TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:92532140T>C	ENST00000298047.6	+	9	5978	c.5961T>C	c.(5959-5961)taT>taC	p.Y1987Y	FAT3_ENST00000409404.2_Silent_p.Y1987Y|FAT3_ENST00000525166.1_Silent_p.Y1837Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1987	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAAGCTTCTATTCCACCTCAA	0.413										TCGA Ovarian(4;0.039)																																							0													177	172	174					11																	92532140		1945	4139	6084	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5961T>C	11.37:g.92532140T>C			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Y1987	ENST00000298047.6	37	c.5961		11																																																																																			FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.413	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	95	0	T	NM_001008781		92532140	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	34.85	43	23	SNP	0.963	C	C	92532140	T	C	92532140	2	2	74	1	0	0	0	0	0	0	0	1	5713	1500	52	4		4	FAT3	11	92532140	Silent	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	15727407	92532140	42474376	121	19771	79	2									
FAT3	120114	genome.wustl.edu	37	chr11	92532150	92532150	+	Missense_Mutation	SNP	A	A	G																															aaagcttctattccacctcaAtctcagagaacaacactaac																										TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:92532150A>G	ENST00000298047.6	+	9	5988	c.5971A>G	c.(5971-5973)Atc>Gtc	p.I1991V	FAT3_ENST00000409404.2_Missense_Mutation_p.I1991V|FAT3_ENST00000525166.1_Missense_Mutation_p.I1841V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1991	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCCACCTCAATCTCAGAGAA	0.423										TCGA Ovarian(4;0.039)																																							0													177	172	173					11																	92532150		1937	4140	6077	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5971A>G	11.37:g.92532150A>G	ENSP00000298047:p.Ile1991Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I1991V	ENST00000298047.6	37	c.5971		11	.	.	.	.	.	.	.	.	.	.	A	2.014	-0.426417	0.04701	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.47869	0.83;0.83;0.83	6.02	6.02	0.97574	.	.	.	.	.	T	0.45094	0.1325	N	0.05608	-0.01	0.80722	D	1	D	0.63880	0.993	D	0.75484	0.986	T	0.37572	-0.9700	9	0.02654	T	1	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1991	Q8TDW7-3	.	V	1991;1991;1841	ENSP00000298047:I1991V;ENSP00000387040:I1991V;ENSP00000432586:I1841V	ENSP00000298047:I1991V	I	+	1	0	FAT3	92171798	1.000000	0.71417	0.982000	0.44146	0.977000	0.68977	7.502000	0.81614	2.311000	0.77944	0.533000	0.62120	ATC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.423	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	97	0	A	NM_001008781		92532150	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	28.33	43	17	SNP	0.998	G	G	92532150	A	G	92532150	3	3	74	1	0	0	0	0	1	0	0	0	5713	101	4	4	6005	4	FAT3	11	92532150	Missense_Mutation	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	10	92532150	42474366	122	19772	79	2									
KBTBD3	143879	genome.wustl.edu	37	chr11	105929763	105929763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgtttttcttctcagatGgaattccattacatgtgctt	8	19	7	7	0	2	1	1	0	2	1	4	2	3	2	1	1	2	3	1	1	2	7			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:105929763G>C	ENST00000531482.2	-	1	75	c.62C>G	c.(61-63)cCa>cGa	p.P21R	KBTBD3_ENST00000526793.1_Missense_Mutation_p.P21R|KBTBD3_ENST00000531837.1_Missense_Mutation_p.P21R|KBTBD3_ENST00000534815.1_Intron			Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	17										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		CTTCTCAGATGGAATTCCATT	0.313																																																	0													66	65	65					11																	105929763		2199	4299	6498	SO:0001583	missense	0			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000531482.2:c.62C>G	11.37:g.105929763G>C	ENSP00000475836:p.Pro21Arg		Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P21R	ENST00000531482.2	37	c.62		11	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857702	0.51376	.	.	ENSG00000182359	ENST00000526793;ENST00000531837	T;T	0.66099	-0.19;-0.19	5.17	4.26	0.50523	.	0.399317	0.30311	N	0.009909	T	0.49575	0.1565	L	0.27053	0.805	0.32824	D	0.503103	B;B	0.22909	0.077;0.077	B;B	0.20955	0.032;0.032	T	0.59590	-0.7426	10	0.51188	T	0.08	.	13.9247	0.63955	0.0731:0.0:0.9269:0.0	.	21;17	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	R	21	ENSP00000436262:P21R;ENSP00000432163:P21R	ENSP00000436262:P21R	P	-	2	0	KBTBD3	105434973	1.000000	0.71417	0.962000	0.40283	0.922000	0.55478	4.992000	0.63889	1.416000	0.47057	0.655000	0.94253	CCA	KBTBD3	-	pirsf_Kelch-like_gigaxonin	ENSG00000182359		0.313	KBTBD3-006	PUTATIVE	basic|exp_conf	protein_coding	KBTBD3	HGNC	protein_coding	OTTHUMT00000388708.2	-	0	84	0	G	NM_152433		105929763	-1	tier1	-	no_errors	ENST00000526793	ensembl	human	known	74_37	missense	28.77	51	21	SNP	0.994	C	C	105929763	G	C	105929763	3	2	74	1	0	0	0	0	1	0	0	0	8021	1348	47	5	1784	5	KBTBD3	11	105929763	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	13397613	105929763	29076753	123	19773											
BCL9L	283149	genome.wustl.edu	37	chr11	118773129	118773129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcttgtgctggtgggccCccctcacccgctcctcctgg	1	9	14	17	1	1	0	1	0	0	0	3	0	3	0	6	5	1	3	6	5	0	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:118773129C>T	ENST00000334801.3	-	6	2287	c.1323G>A	c.(1321-1323)ggG>ggA	p.G441G	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	441	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGGTGGGCCCCCCTCACCCG	0.662																																																	0													10	13	12					11																	118773129		2058	4099	6157	SO:0001819	synonymous_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1323G>A	11.37:g.118773129C>T			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.G441	ENST00000334801.3	37	c.1323	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.662	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0	13	0	C	NM_182557		118773129	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	35.71	9	5	SNP	0.169	T	T	118773129	C	T	118773129	2	4	74	1	0	0	0	0	0	0	0	1	1383	610	22	3		3	BCL9L	11	118773129	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	12843366	118773129	16233387	124	19774											
OR8D2	283160	genome.wustl.edu	37	chr11	124189277	124189277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgtagaacacagaagacaCcttctctttttccatagtag	13	12	7	9	0	1	3	0	0	1	3	3	4	2	3	2	0	1	2	2	0	5	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr11:124189277C>G	ENST00000357438.2	-	1	907	c.817G>C	c.(817-819)Gtg>Ctg	p.V273L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		ACAGAAGACACCTTCTCTTTT	0.423																																																	0													155	161	159					11																	124189277		2201	4299	6500	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.817G>C	11.37:g.124189277C>G	ENSP00000350022:p.Val273Leu		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V273L	ENST00000357438.2	37	c.817	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	c	12.61	1.990255	0.35131	.	.	ENSG00000197263	ENST00000357438	T	0.00249	8.44	3.34	0.348	0.16026	GPCR, rhodopsin-like superfamily (1);	0.417730	0.17650	N	0.166705	T	0.00144	0.0004	L	0.31207	0.915	0.09310	N	1	P	0.38110	0.618	B	0.42138	0.377	T	0.35001	-0.9806	10	0.66056	D	0.02	.	4.8222	0.13396	0.0:0.4346:0.2945:0.2709	.	273	Q9GZM6	OR8D2_HUMAN	L	273	ENSP00000350022:V273L	ENSP00000350022:V273L	V	-	1	0	OR8D2	123694487	0.000000	0.05858	0.059000	0.19551	0.827000	0.46813	-2.723000	0.00810	0.105000	0.17753	0.530000	0.56133	GTG	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197263		0.423	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	-	0	80	0	C	NM_001002918		124189277	-1	tier1	-	no_errors	ENST00000357438	ensembl	human	known	74_37	missense	41.18	49	35	SNP	0.000	G	G	124189277	C	G	124189277	3	3	74	1	0	0	0	0	1	0	0	0	11271	507	18	5	121	5	OR8D2	11	124189277	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	5416148	124189277	10817239	125	19775											
SLC6A12	6539	genome.wustl.edu	37	chr12	306029	306029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcacagccttggggaaggcGatgaaggccagcccaggacc	10	4	15	12	1	1	1	1	1	0	0	1	4	1	3	4	5	2	0	4	5	2	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:306029G>A	ENST00000428720.1	-	11	1838	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	SLC6A12_ENST00000359674.4_Silent_p.I365I|SLC6A12_ENST00000397296.2_Silent_p.I365I|SLC6A12_ENST00000538272.1_5'Flank|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000536824.1_Silent_p.I365I|SLC6A12_ENST00000424061.2_Silent_p.I365I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	365					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TGGGGAAGGCGATGAAGGCCA	0.582																																																	0													98	89	92					12																	306029		2203	4300	6503	SO:0001819	synonymous_variant	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1095C>T	12.37:g.306029G>A			A0AV52|B2R992|D3DUN8	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.I365	ENST00000428720.1	37	c.1095	CCDS8501.1	12																																																																																			SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000111181		0.582	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	-	0	52	0	G	NM_003044		306029	-1	tier1	-	no_errors	ENST00000359674	ensembl	human	known	74_37	silent	51.79	27	29	SNP	0.851	A	A	306029	G	A	306029	2	1	74	1	0	0	0	0	0	0	0	1	14720	1048	37	1		1	SLC6A12	12	306029	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		306029	133545866	126	19776											
LRP6	4040	genome.wustl.edu	37	chr12	12317346	12317346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtctgatatctgctctcCgtgaaaacaaaaggaaagcc	13	10	8	10	2	3	2	0	2	3	0	5	3	3	3	2	1	3	1	2	1	6	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:12317346C>T	ENST00000261349.4	-	9	1989	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	LRP6_ENST00000543091.1_Missense_Mutation_p.R638Q	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	638	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R638Q(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATCTGCTCTCCGTGAAAACAA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											103	101	102					12																	12317346		2203	4300	6503	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1913G>A	12.37:g.12317346C>T	ENSP00000261349:p.Arg638Gln		Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R638Q	ENST00000261349.4	37	c.1913	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045719	0.75846	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.91124	-2.79;-2.79	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.56097	D	0.000026	D	0.86285	0.5896	L	0.41124	1.26	0.58432	D	0.999999	D;P	0.63880	0.993;0.755	B;B	0.41299	0.353;0.062	D	0.83751	0.0209	10	0.10111	T	0.7	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	638;638	F5H7J9;O75581	.;LRP6_HUMAN	Q	638	ENSP00000261349:R638Q;ENSP00000442472:R638Q	ENSP00000261349:R638Q	R	-	2	0	LRP6	12208613	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	4.859000	0.62954	2.824000	0.97209	0.655000	0.94253	CGG	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6	ENSG00000070018		0.438	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	-	0	90	0	C			12317346	-1	tier1	-	no_errors	ENST00000261349	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	T	T	12317346	C	T	12317346	3	4	74	1	0	0	0	0	1	0	0	0	8997	652	23	1	2988	1	LRP6	12	12317346	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	12011317	12317346	121534549	127	19777											
MLL2	8085	genome.wustl.edu	37	chr12	49420423	49420423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatggtagacattggggCaacgcatgcgattgcagctg	12	8	13	8	2	0	1	0	0	0	1	0	2	0	1	0	3	4	5	0	3	4	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:49420423C>A	ENST00000301067.7	-	48	15325	c.15326G>T	c.(15325-15327)tGc>tTc	p.C5109F		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5109			C -> F (in KABUK1). {ECO:0000269|PubMed:20711175}.		chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C5109F(1)|p.C4839F(1)									GACATTGGGGCAACGCATGCG	0.547																																																	2	Substitution - Missense(2)	prostate(2)											67	68	68					12																	49420423		2163	4254	6417	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15326G>T	12.37:g.49420423C>A	ENSP00000301067:p.Cys5109Phe		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C5109F	ENST00000301067.7	37	c.15326	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	12.75	2.032824	0.35893	.	.	ENSG00000167548	ENST00000301067	D	0.94330	-3.4	4.77	4.77	0.60923	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.39909	N	0.001227	D	0.97826	0.9286	H	0.96269	3.795	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.99271	1.0893	10	0.87932	D	0	.	16.9322	0.86193	0.0:1.0:0.0:0.0	.	5109	O14686	MLL2_HUMAN	F	5109	ENSP00000301067:C5109F	ENSP00000301067:C5109F	C	-	2	0	MLL2	47706690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.377000	0.81083	0.561000	0.74099	TGC	KMT2D	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING	ENSG00000167548		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	32	0	C			49420423	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	45.45	18	15	SNP	1.000	A	A	49420423	C	A	49420423	3	1	74	1	0	0	0	0	1	0	0	0	9659	710	25	3	1315	3	MLL2	12	49420423	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	37103077	49420423	84431472	128	19778											
MLL2	8085	genome.wustl.edu	37	chr12	49441854	49441854	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataccacacacatgtccTggggaaacacagagaaaccc	16	4	7	14	0	0	1	0	0	0	1	1	3	1	2	3	2	3	0	3	2	3	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:49441854T>G	ENST00000301067.7	-	14	4131		c.e14-2			NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D						chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACACATGTCCTGGGGAAACAC	0.537																																																	0													54	60	58					12																	49441854		2048	4183	6231	SO:0001630	splice_region_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4132-2A>C	12.37:g.49441854T>G			O14687	Splice_Site	SNP	-	e14-2	ENST00000301067.7	37	c.4132-2	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647768	0.87958	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1973	0.73104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL2	47728121	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	8.015000	0.88690	2.231000	0.72958	0.460000	0.39030	.	KMT2D	-	-	ENSG00000167548		0.537	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	64	0	T		Intron	49441854	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	splice_site	44.74	21	17	SNP	1.000	G	G	49441854	T	G	49441854	5	3	74	1	0	0	0	0	0	0	1	0	9659	1594	55	4	12647	4	MLL2	12	49441854	Splice_Site	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	21431	49441854	84410041	129	19779											
SP7	121340	genome.wustl.edu	37	chr12	53723184	53723184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcatggccaggggactGgagccatagtgaacttcctc	9	8	13	11	0	1	1	1	1	0	0	3	3	2	3	3	4	3	1	3	4	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:53723184G>A	ENST00000536324.2	-	3	325	c.42C>T	c.(40-42)tcC>tcT	p.S14S	SP7_ENST00000537210.2_5'UTR|SP7_ENST00000303846.3_Silent_p.S14S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	14					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCAGGGGACTGGAGCCATAGT	0.557																																																	0													41	43	42					12																	53723184		2118	4243	6361	SO:0001819	synonymous_variant	0			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.42C>T	12.37:g.53723184G>A			B3KY26|Q3MJ72|Q7Z718	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S14	ENST00000536324.2	37	c.42	CCDS44897.1	12																																																																																			SP7	-	NULL	ENSG00000170374		0.557	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	-	0	48	0	G			53723184	-1	tier1	-	no_errors	ENST00000303846	ensembl	human	known	74_37	silent	34.29	23	12	SNP	1.000	A	A	53723184	G	A	53723184	2	1	74	1	0	0	0	0	0	0	0	1	15014	1335	47	3		3	SP7	12	53723184	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	4281330	53723184	80128711	130	19780											
OR6C65	403282	genome.wustl.edu	37	chr12	55794948	55794948	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtaactttggccttggtGgttctctcctacacactcat	7	15	8	11	0	2	0	1	0	1	0	4	0	3	0	2	4	2	2	2	4	2	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:55794948G>T	ENST00000379665.2	+	1	735	c.636G>T	c.(634-636)gtG>gtT	p.V212V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGGCCTTGGTGGTTCTCTCCT	0.438																																																	0													215	208	210					12																	55794948		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.636G>T	12.37:g.55794948G>T			B2RNH9	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V212	ENST00000379665.2	37	c.636	CCDS31821.1	12																																																																																			OR6C65	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205328		0.438	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	-	0	95	0	G			55794948	1	tier1	-	no_errors	ENST00000379665	ensembl	human	known	74_37	silent	16.00	63	12	SNP	0.011	T	T	55794948	G	T	55794948	2	4	74	1	0	0	0	0	0	0	0	1	11234	1335	47	3		3	OR6C65	12	55794948	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	2071764	55794948	78056947	131	19781											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72021557	72021558	+	Frame_Shift_Ins	INS	-	-	G																															tttgattcaagtacttgtacINSgcaagcttgagccaaagttg																								rs200145489		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:72021557_72021558insG	ENST00000378743.3	-	21	4461_4462	c.4103_4104insC	c.(4102-4104)gcgfs	p.A1368fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1368					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGTACTTGTACGCAAGCTTGAG	0.351																																																	0																																										SO:0001589	frameshift_variant	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4104dupC	12.37:g.72021558_72021558dupG	ENSP00000368017:p.Ala1368fs		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Ins	INS	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.Y1369fs	ENST00000378743.3	37	c.4104_4103	CCDS41813.1	12																																																																																			ZFC3H1	-	pfscan_TPR-contain_dom	ENSG00000133858		0.351	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1		0	91	0	-	NM_144982		72021558	-1	tier1		no_errors	ENST00000378743	ensembl	human	known	74_37	frame_shift_ins	21.95	64	18	INS	0.896:1.000	G	G	72021558	-	G	72021557	7	5	74	1	0	1	1	0	0	0	0	0	17681	523	19	0	1925	0	ZFC3H1	12	72021557	Frame_Shift_Ins	INS	-	TCGA-L5-A88W-01A-11D-A351-09	16226609	72021557	61830338	132	19782											
GTF2H3	2967	genome.wustl.edu	37	chr12	124144761	124144761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgaaagccaagaaaaaGaaactgaaagtgtctgcctg	16	7	11	7	0	1	4	0	2	1	2	1	4	1	4	2	0	4	1	2	0	6	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr12:124144761G>T	ENST00000543341.2	+	13	937	c.906G>T	c.(904-906)aaG>aaT	p.K302N	GTF2H3_ENST00000228955.7_Missense_Mutation_p.K261N	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	302					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		CCAAGAAAAAGAAACTGAAAG	0.343								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0													64	69	67					12																	124144761		2203	4299	6502	SO:0001583	missense	0			Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"General transcription factors", "General transcription factor IIH complex subunits"	4657	protein-coding gene	gene with protein product		601750	"general transcription factor IIH, polypeptide 3 (34kD subunit)"			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.906G>T	12.37:g.124144761G>T	ENSP00000445162:p.Lys302Asn		B2R819|B4DNZ6|Q7L0G0|Q96AT7	Missense_Mutation	SNP	pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34	p.K302N	ENST00000543341.2	37	c.906	CCDS9252.1	12	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004663	0.54254	.	.	ENSG00000111358	ENST00000228955;ENST00000543341;ENST00000542231;ENST00000543154	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74222	0.3688	M	0.87827	2.91	0.58432	D	0.999999	P	0.48162	0.906	P	0.46585	0.521	T	0.79864	-0.1623	9	0.87932	D	0	.	18.2988	0.90157	0.0:0.0:1.0:0.0	.	302	Q13889	TF2H3_HUMAN	N	261;302;252;188	.	ENSP00000228955:K261N	K	+	3	2	GTF2H3	122710714	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.644000	0.67902	2.775000	0.95449	0.650000	0.86243	AAG	GTF2H3	-	NULL	ENSG00000111358		0.343	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	HGNC	protein_coding	OTTHUMT00000400641.2	-	0	52	0	G	NM_001516		124144761	1	tier1	-	no_errors	ENST00000543341	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	T	T	124144761	G	T	124144761	3	4	74	1	0	0	0	0	1	0	0	0	6891	933	33	3	956	3	GTF2H3	12	124144761	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	52123204	124144761	9707134	133	19783											
TPTE2	93492	genome.wustl.edu	37	chr13	20012288	20012288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacaaaccatagtcccggTtcttcctagaaaagaaaaga	16	7	8	10	1	1	3	0	0	1	3	3	3	3	3	3	2	1	2	3	2	7	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:20012288T>A	ENST00000400230.2	-	14	1023	c.979A>T	c.(979-981)Acc>Tcc	p.T327S	TPTE2_ENST00000390680.2_Missense_Mutation_p.T250S|TPTE2_ENST00000255310.6_Missense_Mutation_p.T250S|TPTE2_ENST00000382977.4_Missense_Mutation_p.T327S|TPTE2_ENST00000382978.1_Missense_Mutation_p.T287S|TPTE2_ENST00000400103.2_Missense_Mutation_p.T216S|TPTE2_ENST00000457266.2_Missense_Mutation_p.T216S|TPTE2_ENST00000382975.4_Missense_Mutation_p.T287S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	327	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ATAGTCCCGGTTCttcctaga	0.338																																																	0													54	53	53					13																	20012288		2203	4300	6503	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.979A>T	13.37:g.20012288T>A	ENSP00000383089:p.Thr327Ser		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.T327S	ENST00000400230.2	37	c.979	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	t	12.75	2.032386	0.35893	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33;-5.33	2.41	2.41	0.29592	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.70842	2.15	0.45216	D	0.998228	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.995;0.998	D	0.98124	1.0427	9	.	.	.	-30.4995	6.7869	0.23677	0.0:0.0:0.0:1.0	.	216;250;327	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	S	287;216;327;250;250;327;287;216;327;196	ENSP00000372438:T287S;ENSP00000382974:T216S;ENSP00000383089:T327S;ENSP00000255310:T250S;ENSP00000375098:T250S;ENSP00000372437:T327S;ENSP00000372435:T287S;ENSP00000442218:T216S	.	T	-	1	0	TPTE2	18910288	1.000000	0.71417	0.960000	0.40013	0.284000	0.27059	3.127000	0.50484	1.358000	0.45922	0.378000	0.23410	ACC	TPTE2	-	pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000132958		0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding		-	0	131	0	T	NM_199254		20012288	-1	tier1	-	no_errors	ENST00000382977	ensembl	human	known	74_37	missense	31.19	75	34	SNP	0.984	A	A	20012288	T	A	20012288	3	1	74	1	0	0	0	0	1	0	0	0	16479	1725	60	5	617	5	TPTE2	13	20012288	Missense_Mutation	SNP	T	TCGA-L5-A88W-01A-11D-A351-09		20012288	95157590	134	19784											
WASF3	10810	genome.wustl.edu	37	chr13	27255248	27255248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctactcccaaccattctctGcacccccagcctgtgacccc	7	8	5	21	0	1	1	0	1	1	0	3	1	2	1	7	0	4	2	7	0	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:27255248G>T	ENST00000335327.5	+	8	952	c.774G>T	c.(772-774)ctG>ctT	p.L258L	WASF3_ENST00000361042.4_Silent_p.L255L	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	258					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ACCATTCTCTGCACCCCCAGC	0.547																																																	0													83	91	89					13																	27255248		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.774G>T	13.37:g.27255248G>T			O94974|Q86VQ2	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.L258	ENST00000335327.5	37	c.774	CCDS9318.1	13																																																																																			WASF3	-	NULL	ENSG00000132970		0.547	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0	187	0	G			27255248	1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	silent	29.24	121	50	SNP	1.000	T	T	27255248	G	T	27255248	2	4	74	1	0	0	0	0	0	0	0	1	17303	1306	46	3		3	WASF3	13	27255248	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	7242960	27255248	87914630	135	19785											
FREM2	341640	genome.wustl.edu	37	chr13	39261662	39261662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctgtcccctggtctcGcgggggctgcaggggtccct	1	10	16	14	3	1	0	0	0	1	0	4	0	3	0	3	5	2	4	3	5	0	1	rs553605556		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:39261662G>A	ENST00000280481.7	+	1	397	c.181G>A	c.(181-183)Gcg>Acg	p.A61T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	61					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCTGGTCTCGCGGGGGCTGC	0.692																																																	0																																										SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.181G>A	13.37:g.39261662G>A	ENSP00000280481:p.Ala61Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.A61T	ENST00000280481.7	37	c.181	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924303	0.34002	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	4.47	-1.49	0.08718	.	0.993104	0.08175	N	0.986462	T	0.09949	0.0244	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35525	-0.9785	10	0.30078	T	0.28	.	5.1113	0.14811	0.0762:0.3782:0.3617:0.1839	.	61	Q5SZK8	FREM2_HUMAN	T	61	ENSP00000280481:A61T	ENSP00000280481:A61T	A	+	1	0	FREM2	38159662	0.000000	0.05858	0.887000	0.34795	0.907000	0.53573	-0.425000	0.07017	-0.173000	0.10761	-0.176000	0.13171	GCG	FREM2	-	NULL	ENSG00000150893		0.692	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	62	0	G	NM_207361		39261662	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.024	A	A	39261662	G	A	39261662	3	1	74	1	0	0	0	0	1	0	0	0	6069	1087	38	1	183	1	FREM2	13	39261662	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	12006414	39261662	75908216	136	19786											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113158952	113158952	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgtacctcaaatgtgatGtaatactgcatctgatgaat	14	13	8	6	0	2	3	1	3	1	0	2	3	2	3	1	0	3	3	1	0	6	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr13:113158952G>T	ENST00000261965.3	-	18	2349	c.2163C>A	c.(2161-2163)taC>taA	p.Y721*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Y721*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	721					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CAAATGTGATGTAATACTGCA	0.383																																																	0													104	89	94					13																	113158952		2203	4300	6503	SO:0001587	stop_gained	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.2163C>A	13.37:g.113158952G>T	ENSP00000261965:p.Tyr721*		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	pfam_TUBGCP	p.Y721*	ENST00000261965.3	37	c.2163	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.331829	0.98217	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	4.97	2.26	0.28386	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.2813	10.0982	0.42488	0.2209:0.0:0.7791:0.0	.	.	.	.	X	721	.	ENSP00000261965:Y721X	Y	-	3	2	TUBGCP3	112206953	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	2.952000	0.49097	0.522000	0.28464	-0.151000	0.13558	TAC	TUBGCP3	-	pfam_TUBGCP	ENSG00000126216		0.383	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2		0	77	0	G	NM_006322		113158952	-1			no_errors	ENST00000261965	ensembl	human	known	74_37	nonsense	5.71	66	4	SNP	1.000	T	T	113158952	G	T	113158952	4	4	74	1	0	0	0	0	0	1	0	0	16816	1372	48	3	580	3	TUBGCP3	13	113158952	Nonsense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	73897290	113158952	2010926	137	19787											
KIAA1409	57578	genome.wustl.edu	37	chr14	94158230	94158230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttcacggcgatactgacaGcactagaattttggagtagg	11	10	12	8	2	1	2	1	1	0	1	1	4	1	3	0	3	2	3	0	3	4	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr14:94158230G>T	ENST00000393151.2	+	47	7525	c.7525G>T	c.(7525-7527)Gca>Tca	p.A2509S	UNC79_ENST00000553484.1_Missense_Mutation_p.A2531S|UNC79_ENST00000256339.4_Missense_Mutation_p.A2332S|UNC79_ENST00000555664.1_Missense_Mutation_p.A2470S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2509					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATACTGACAGCACTAGAATT	0.463																																																	0													140	128	132					14																	94158230		2203	4300	6503	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"KIAA1409"	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7525G>T	14.37:g.94158230G>T	ENSP00000376858:p.Ala2509Ser		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.A2531S	ENST00000393151.2	37	c.7591		14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093185	0.76756	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.18810	2.19;2.21;2.19;2.19	5.81	5.81	0.92471	.	0.052433	0.85682	D	0.000000	T	0.22003	0.0530	L	0.40543	1.245	0.52501	D	0.999956	B	0.31705	0.336	B	0.29862	0.108	T	0.01528	-1.1332	10	0.36615	T	0.2	-16.117	20.0784	0.97758	0.0:0.0:1.0:0.0	.	2531	C9JQL1	.	S	2332;2470;2531;2509;2531	ENSP00000256339:A2332S;ENSP00000450868:A2470S;ENSP00000451360:A2531S;ENSP00000376858:A2509S	ENSP00000256339:A2332S	A	+	1	0	KIAA1409	93227983	1.000000	0.71417	0.282000	0.24776	0.988000	0.76386	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCA	UNC79	-	superfamily_P-loop_NTPase	ENSG00000133958		0.463	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	-	0	63	0	G	XM_028395		94158230	1	tier1	-	no_errors	ENST00000553484	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.999	T	T	94158230	G	T	94158230	3	4	74	1	0	0	0	0	1	0	0	0	8257	971	34	3	7168	3	KIAA1409	14	94158230	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		94158230	13191310	138	19788											
CASC5	57082	genome.wustl.edu	37	chr15	40911203	40911203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatacccagatgcaacaGaaggaggtatgagttcatgc	14	9	10	8	0	2	3	2	1	0	2	2	4	2	4	1	2	4	3	1	2	4	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:40911203G>T	ENST00000346991.5	+	10	837	c.447G>T	c.(445-447)caG>caT	p.Q149H	CASC5_ENST00000527044.1_Intron|CASC5_ENST00000399668.2_Missense_Mutation_p.Q123H			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	149	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATGCAACAGAAGGAGGTAT	0.338																																																	0													172	165	168					15																	40911203		1876	4096	5972	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.447G>T	15.37:g.40911203G>T	ENSP00000335463:p.Gln149His		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.Q149H	ENST00000346991.5	37	c.447	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194378	0.58017	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.25579	1.79;1.79	4.78	1.56	0.23342	.	0.194706	0.35555	N	0.003125	T	0.39572	0.1083	M	0.66939	2.045	0.24935	N	0.991899	P;P;D	0.71674	0.765;0.933;0.998	B;B;D	0.66847	0.363;0.363;0.947	T	0.15809	-1.0424	10	0.72032	D	0.01	.	4.5158	0.11934	0.2212:0.182:0.5968:0.0	.	123;149;123	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	H	149;123;123	ENSP00000335463:Q149H;ENSP00000382576:Q123H	ENSP00000260369:Q123H	Q	+	3	2	CASC5	38698495	1.000000	0.71417	0.998000	0.56505	0.805000	0.45488	1.706000	0.37878	0.208000	0.20626	0.557000	0.71058	CAG	CASC5	-	NULL	ENSG00000137812		0.338	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0	86	0	G	NM_144508		40911203	1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	40911203	G	T	40911203	3	4	74	1	0	0	0	0	1	0	0	0	2670	933	33	3	481	3	CASC5	15	40911203	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		40911203	61620189	139	19789											
MGA	23269	genome.wustl.edu	37	chr15	42003256	42003256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcagaaatactctcaTgtgattctaggagataaggt	15	10	9	7	0	2	3	1	1	2	2	3	4	2	3	1	2	2	1	1	2	5	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:42003256T>A	ENST00000570161.1	+	7	2793	c.2793T>A	c.(2791-2793)caT>caA	p.H931Q	MGA_ENST00000566586.1_Missense_Mutation_p.H931Q|MGA_ENST00000389936.4_Missense_Mutation_p.H931Q|MGA_ENST00000545763.1_Missense_Mutation_p.H931Q|MGA_ENST00000219905.7_Missense_Mutation_p.H931Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATACTCTCATGTGATTCTAG	0.368																																																	0													145	143	143					15																	42003256		1871	4115	5986	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2793T>A	15.37:g.42003256T>A	ENSP00000457035:p.His931Gln		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.H931Q	ENST00000570161.1	37	c.2793	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	T	9.914	1.210383	0.22289	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.16743	2.32;2.32;2.32	5.84	2.0	0.26442	.	0.952655	0.08798	N	0.892187	T	0.10165	0.0249	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.12837	0.008;0.003	T	0.34403	-0.9830	10	0.44086	T	0.13	.	4.3355	0.11083	0.1236:0.0672:0.1292:0.68	.	931;931	F5H7K2;E7ENI0	.;.	Q	931	ENSP00000219905:H931Q;ENSP00000374586:H931Q;ENSP00000442467:H931Q	ENSP00000219905:H931Q	H	+	3	2	MGA	39790548	0.000000	0.05858	0.034000	0.17996	0.843000	0.47879	0.032000	0.13732	0.446000	0.26666	-0.250000	0.11733	CAT	MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	81	0	T	NM_001164273.1		42003256	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	38.67	46	29	SNP	0.003	A	A	42003256	T	A	42003256	3	1	74	1	0	0	0	0	1	0	0	0	9578	1461	51	5	2819	5	MGA	15	42003256	Missense_Mutation	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	1092053	42003256	60528136	140	19790											
ITGA11	22801	genome.wustl.edu	37	chr15	68623367	68623367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactgccaggtcgatgagcCcatcctcattgaggtccaat	9	9	9	14	1	1	2	1	2	0	0	4	3	3	2	5	2	2	0	5	2	1	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:68623367C>A	ENST00000315757.7	-	15	1939	c.1853G>T	c.(1852-1854)gGg>gTg	p.G618V	ITGA11_ENST00000423218.2_Missense_Mutation_p.G618V	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	618					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GTCGATGAGCCCATCCTCATT	0.587																																																	0													56	63	61					15																	68623367		2030	4192	6222	SO:0001583	missense	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1853G>T	15.37:g.68623367C>A	ENSP00000327290:p.Gly618Val		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G618V	ENST00000315757.7	37	c.1853	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934633	0.92458	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491;ENST00000537153	D;D	0.84370	-1.84;-1.84	5.49	5.49	0.81192	.	0.047692	0.85682	D	0.000000	D	0.93900	0.8048	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.77557	0.943;0.99	D	0.94819	0.7985	10	0.87932	D	0	.	18.3569	0.90361	0.0:1.0:0.0:0.0	.	618;618	A8K8T0;Q9UKX5	.;ITA11_HUMAN	V	618;618;253;618	ENSP00000327290:G618V;ENSP00000403392:G618V	ENSP00000327290:G618V	G	-	2	0	ITGA11	66410421	0.998000	0.40836	0.989000	0.46669	0.958000	0.62258	4.394000	0.59671	2.573000	0.86826	0.561000	0.74099	GGG	ITGA11	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000137809		0.587	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		-	0	97	0	C	NM_012211		68623367	-1	tier1	-	no_errors	ENST00000315757	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	68623367	C	A	68623367	3	1	74	1	0	0	0	0	1	0	0	0	7901	623	22	3	1777	3	ITGA11	15	68623367	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	26620111	68623367	33908025	141	19791											
SYNM	23336	genome.wustl.edu	37	chr15	99671376	99671376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgaattccacacctccatGaagggcatctcctccaagga	12	7	7	15	1	1	1	0	1	1	0	5	3	4	2	5	2	0	1	5	2	3	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr15:99671376G>A	ENST00000560674.1	+	4	2422	c.1953G>A	c.(1951-1953)atG>atA	p.M651I	SYNM_ENST00000336292.6_Missense_Mutation_p.M936I|SYNM_ENST00000328642.7_Missense_Mutation_p.M936I|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	937	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACACCTCCATGAAGGGCATCT	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)												0													18	20	19					15																	99671376		1887	4109	5996	SO:0001583	missense	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"A-kinase anchor proteins", "Intermediate filaments type IV"	24466	protein-coding gene	gene with protein product	"synemin alpha", "synemin beta"	606087	"desmuslin"	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1953G>A	15.37:g.99671376G>A	ENSP00000453040:p.Met651Ile		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_IF	p.M936I	ENST00000560674.1	37	c.2808		15	.	.	.	.	.	.	.	.	.	.	G	3.937	-0.014954	0.07681	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.73152	-0.7;-0.72	5.76	-11.5	0.00074	.	.	.	.	.	T	0.35219	0.0924	.	.	.	0.09310	N	0.999997	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.09378	-1.0677	8	0.02654	T	1	.	6.6258	0.22828	0.2039:0.4892:0.2032:0.1037	.	937;936	O15061;C9JIE4	SYNEM_HUMAN;.	I	936	ENSP00000336775:M936I;ENSP00000330469:M936I	ENSP00000330469:M936I	M	+	3	0	SYNM	97488899	0.728000	0.28080	0.000000	0.03702	0.670000	0.39368	-0.126000	0.10563	-4.306000	0.00057	-1.053000	0.02334	ATG	SYNM	-	NULL	ENSG00000182253		0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	-	0	39	0	G	NM_145728		99671376	1	tier1	-	no_errors	ENST00000336292	ensembl	human	known	74_37	missense	44.90	27	22	SNP	0.000	A	A	99671376	G	A	99671376	3	1	74	1	0	0	0	0	1	0	0	0	15502	1290	45	3	2824	3	SYNM	15	99671376	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	31048009	99671376	2860016	142	19792											
IFT140	9742	genome.wustl.edu	37	chr16	1568310	1568310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaggtctggttcctccagGagcagctcacactgcttgat	7	11	10	13	0	2	1	1	1	1	0	5	2	5	2	3	3	3	4	3	3	0	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:1568310G>A	ENST00000426508.2	-	30	4452	c.4089C>T	c.(4087-4089)ctC>ctT	p.L1363L	IFT140_ENST00000361339.5_Silent_p.L557L	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1363					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GTTCCTCCAGGAGCAGCTCAC	0.612																																																	0													112	80	91					16																	1568310		2199	4300	6499	SO:0001819	synonymous_variant	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4089C>T	16.37:g.1568310G>A			A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1363	ENST00000426508.2	37	c.4089	CCDS10439.1	16																																																																																			IFT140	-	NULL	ENSG00000187535		0.612	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	43	0	G	NM_014714		1568310	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	silent	31.71	28	13	SNP	0.999	A	A	1568310	G	A	1568310	2	1	74	1	0	0	0	0	0	0	0	1	7583	1161	41	3		3	IFT140	16	1568310	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		1568310	88786443	143	19793											
MGRN1	23295	genome.wustl.edu	37	chr16	4730035	4730035	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttatcttgacagtgTccctttaaaaaatcaaagcc	13	15	5	8	0	2	2	1	2	1	0	3	2	3	2	2	0	1	0	2	0	5	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:4730035T>G	ENST00000399577.5	+	12	1161	c.1068T>G	c.(1066-1068)tgT>tgG	p.C356W	MGRN1_ENST00000586183.1_Intron|MGRN1_ENST00000588994.1_Intron|MGRN1_ENST00000415496.1_Intron|MGRN1_ENST00000262370.7_Missense_Mutation_p.C356W	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	356					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTGACAGTGTCCCTTTAAAA	0.527																																																	0													72	80	77					16																	4730035		1878	4090	5968	SO:0001583	missense	0			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1068T>G	16.37:g.4730035T>G	ENSP00000382487:p.Cys356Trp		A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.C356W	ENST00000399577.5	37	c.1068	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587765	0.66105	.	.	ENSG00000102858	ENST00000262370;ENST00000399577	T;T	0.31510	1.49;1.51	5.57	3.3	0.37823	.	0.439772	0.21353	N	0.075932	T	0.27900	0.0687	N	0.22421	0.69	0.80722	D	1	D;D	0.63046	0.992;0.985	P;P	0.53146	0.719;0.628	T	0.03807	-1.1002	10	0.62326	D	0.03	-9.6517	6.1837	0.20486	0.0:0.2227:0.0:0.7773	.	356;356	O60291-2;O60291	.;MGRN1_HUMAN	W	356	ENSP00000262370:C356W;ENSP00000382487:C356W	ENSP00000262370:C356W	C	+	3	2	MGRN1	4670036	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.002000	0.29796	0.397000	0.25310	0.383000	0.25322	TGT	MGRN1	-	NULL	ENSG00000102858		0.527	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	-	0	164	0	T			4730035	1	tier1	-	no_errors	ENST00000262370	ensembl	human	known	74_37	missense	5.83	192	12	SNP	1.000	G	G	4730035	T	G	4730035	3	3	74	1	0	0	0	0	1	0	0	0	9597	1673	58	4	1117	4	MGRN1	16	4730035	Missense_Mutation	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	3161725	4730035	85624718	144	19794											
ERCC4	2072	genome.wustl.edu	37	chr16	14024574	14024574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttgttttagacaatccGccattatctggatcctttgt	8	18	6	9	1	2	1	0	0	2	1	4	2	4	2	3	1	0	1	3	1	3	6	rs143479220	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:14024574G>T	ENST00000311895.7	+	5	809	c.800G>T	c.(799-801)cGc>cTc	p.R267L	ERCC4_ENST00000575156.1_Missense_Mutation_p.R267L|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000574781.1_3'UTR|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	267	Helicase-like.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TAGACAATCCGCCATTATCTG	0.338			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"excision repair cross-complementing rodent repair deficiency, complementation group 4"		E	0								G	LEU/ARG	1,4393	2.1+/-5.4	0,1,2196	76	71	73		800	5.8	1	16	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERCC4	NM_005236.2	102	0,2,6495	TT,TG,GG		0.0116,0.0228,0.0154	probably-damaging	267/917	14024574	2,12992	2197	4300	6497	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"xeroderma pigmentosum, complementation group F"	133520	"excision repair cross-complementing rodent repair deficiency, complementation group 4"	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.800G>T	16.37:g.14024574G>T	ENSP00000310520:p.Arg267Leu		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1	p.R267L	ENST00000311895.7	37	c.800	CCDS32390.1	16	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852889	0.91355	2.28E-4	1.16E-4	ENSG00000175595	ENST00000311895;ENST00000439007;ENST00000389138	T	0.64438	-0.1	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74741	0.3756	M	0.93375	3.41	0.80722	D	1	P;P	0.44044	0.825;0.792	B;B	0.40329	0.247;0.326	T	0.82350	-0.0501	10	0.72032	D	0.01	-17.4041	19.0512	0.93046	0.0:0.0:1.0:0.0	.	267;267	A5PKV6;Q92889	.;XPF_HUMAN	L	267;256;256	ENSP00000310520:R267L	ENSP00000310520:R267L	R	+	2	0	ERCC4	13932075	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.471000	0.97696	2.741000	0.93983	0.650000	0.86243	CGC	ERCC4	-	tigrfam_Rad1	ENSG00000175595		0.338	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC4	HGNC	protein_coding	OTTHUMT00000109634.2	-	0	76	0	G	NM_005236		14024574	1	tier1	rs143479220	no_errors	ENST00000311895	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	14024574	G	T	14024574	3	4	74	1	0	0	0	0	1	0	0	0	5231	1087	38	2	818	2	ERCC4	16	14024574	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	9294539	14024574	76330179	145	19795											
OTOA	146183	genome.wustl.edu	37	chr16	21716574	21716574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttaccagatgatcaaGtgcagccacctgaggggctt	9	10	11	11	0	1	3	1	2	0	1	1	3	1	3	3	2	4	3	3	2	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:21716574G>T	ENST00000286149.4	+	11	1108	c.1107G>T	c.(1105-1107)aaG>aaT	p.K369N	OTOA_ENST00000388958.3_Missense_Mutation_p.K355N|OTOA_ENST00000388956.4_Missense_Mutation_p.K276N|OTOA_ENST00000569064.1_3'UTR|OTOA_ENST00000388957.3_Missense_Mutation_p.K31N			Q7RTW8	OTOAN_HUMAN	otoancorin	369					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGATGATCAAGTGCAGCCACC	0.567																																																	0													95	88	90					16																	21716574		2199	4300	6499	SO:0001583	missense	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1107G>T	16.37:g.21716574G>T	ENSP00000286149:p.Lys369Asn		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.K369N	ENST00000286149.4	37	c.1107		16	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103493	0.56291	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78707	2.63;-1.2;2.63;-1.2	5.3	-2.63	0.06133	.	0.056224	0.64402	D	0.000002	D	0.83317	0.5228	M	0.66939	2.045	0.39146	D	0.962136	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.999	T	0.80995	-0.1133	10	0.49607	T	0.09	-22.7856	12.2143	0.54398	0.4882:0.0:0.5118:0.0	.	369;276;31;355	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	N	355;369;276;31	ENSP00000373610:K355N;ENSP00000286149:K369N;ENSP00000373608:K276N;ENSP00000373609:K31N	ENSP00000286149:K369N	K	+	3	2	OTOA	21624075	0.988000	0.35896	0.929000	0.37066	0.908000	0.53690	0.125000	0.15749	-0.845000	0.04179	-2.069000	0.00389	AAG	OTOA	-	NULL	ENSG00000155719		0.567	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1		0	43	0	G			21716574	1			no_errors	ENST00000286149	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.947	T	T	21716574	G	T	21716574	3	4	74	1	0	0	0	0	1	0	0	0	11341	1020	36	3	1153	3	OTOA	16	21716574	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	7692000	21716574	68638179	146	19796											
IL27	55911	genome.wustl.edu	37	chr16	28511194	28511194	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcctcctcctcctcCtcttcctcctcctcctcctc	0	15	0	26	0	2	0	0	0	2	0	14	0	12	0	11	0	0	0	11	0	0	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:28511194C>T	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.E170E			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						cctcctcctcctcttcctcct	0.677																																																	0													9	10	9					16																	28511194		2158	4227	6385	SO:0001628	intergenic_variant	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28511194C>T			H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	superfamily_4_helix_cytokine-like_core	p.E170	ENST00000431282.1	37	c.510		16																																																																																			IL27	-	superfamily_4_helix_cytokine-like_core	ENSG00000197272		0.677	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	IL27	HGNC	protein_coding			0	41	0	C	NM_182804		28511194	-1			no_errors	ENST00000356897	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.003	T	T	28511194	C	T	28511194	1	4	74	0	1	0	0	0	0	0	0	0	7707	680	24	3		3	IL27	16	28511194	IGR	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	6794620	28511194	61843559	147	19797											
ADCY7	113	genome.wustl.edu	37	chr16	50335099	50335099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaaggagatgaacatcCgcacctacctggtcatcgac	12	7	8	14	2	2	2	2	1	0	1	4	4	3	2	4	2	2	1	4	2	3	1	rs367758610		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:50335099C>T	ENST00000394697.2	+	10	1682	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C	ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.R448C|ADCY7_ENST00000538642.1_Missense_Mutation_p.R448C|ADCY7_ENST00000254235.3_Missense_Mutation_p.R448C			P51828	ADCY7_HUMAN	adenylate cyclase 7	448					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GATGAACATCCGCACCTACCT	0.682																																																	0								C	CYS/ARG	1,4389	2.1+/-5.4	0,1,2194	57	48	51		1342	4.3	1	16		51	3,8587	3.0+/-9.4	0,3,4292	no	missense	ADCY7	NM_001114.3	180	0,4,6486	TT,TC,CC		0.0349,0.0228,0.0308	probably-damaging	448/1081	50335099	4,12976	2195	4295	6490	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1342C>T	16.37:g.50335099C>T	ENSP00000378187:p.Arg448Cys		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R448C	ENST00000394697.2	37	c.1342	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248977	0.59103	2.28E-4	3.49E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.81739	-1.0;-1.53;-1.53	5.26	4.31	0.51392	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.405962	0.18066	U	0.152780	D	0.85026	0.5603	M	0.67397	2.05	0.20196	N	0.999924	D;D	0.76494	0.997;0.999	P;P	0.61658	0.892;0.827	T	0.75961	-0.3133	10	0.72032	D	0.01	.	7.1715	0.25721	0.2794:0.6354:0.0:0.0852	.	448;448	P51828;F5H4D1	ADCY7_HUMAN;.	C	448	ENSP00000445046:R448C;ENSP00000378187:R448C;ENSP00000254235:R448C	ENSP00000254235:R448C	R	+	1	0	ADCY7	48892600	0.002000	0.14202	0.998000	0.56505	0.837000	0.47467	1.310000	0.33551	1.213000	0.43380	-0.339000	0.08088	CGC	ADCY7	-	pfam_A/G_cyclase,superfamily_A/G_cyclase	ENSG00000121281		0.682	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3	-	0	216	0	C			50335099	1	tier1	-	no_errors	ENST00000254235	ensembl	human	known	74_37	missense	28.89	160	65	SNP	0.209	T	T	50335099	C	T	50335099	3	4	74	1	0	0	0	0	1	0	0	0	299	652	23	1	1376	1	ADCY7	16	50335099	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	21823905	50335099	40019654	148	19798											
CYLD	1540	genome.wustl.edu	37	chr16	50818239	50818239	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attatcctttttcttttgcaGcttatttgcttttagttctg	5	24	5	7	0	2	0	0	0	2	0	3	0	3	0	1	0	3	4	1	0	3	10			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:50818239G>T	ENST00000427738.3	+	11	2031		c.e11-1		RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000568704.2_Splice_Site|CYLD_ENST00000540145.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site|CYLD_ENST00000569418.1_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTCTTTTGCAGCTTATTTGCT	0.323			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													93	87	89					16																	50818239		1807	4070	5877	SO:0001630	splice_region_variant	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1827-1G>T	16.37:g.50818239G>T			O94934|Q7L3N6|Q96EH0|Q9NZX9	Splice_Site	SNP	-	e10-1	ENST00000427738.3	37	c.1827-1	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403179	0.83230	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8453	0.96705	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49375740	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.107000	0.94261	2.754000	0.94517	0.655000	0.94253	.	CYLD	-	-	ENSG00000083799		0.323	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	-	0	95	0	G		Intron	50818239	1	tier1	-	no_errors	ENST00000311559	ensembl	human	known	74_37	splice_site	23.08	90	27	SNP	1.000	T	T	50818239	G	T	50818239	5	4	74	1	0	0	0	0	0	0	1	0	4152	985	34	3	1864	3	CYLD	16	50818239	Splice_Site	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	483140	50818239	39536514	149	19799											
THAP11	57215	genome.wustl.edu	37	chr16	67877021	67877021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaagacgtgaagcccatCgatctcacagtgcaagtgga	13	6	13	9	2	1	3	1	1	1	2	3	6	1	4	1	2	2	1	1	2	3	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:67877021C>T	ENST00000303596.1	+	1	809	c.564C>T	c.(562-564)atC>atT	p.I188I	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGAAGCCCATCGATCTCACAG	0.657																																																	0													80	93	89					16																	67877021		2198	4300	6498	SO:0001819	synonymous_variant	0			AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"THAP (C2CH-type zinc finger) domain containing"	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.564C>T	16.37:g.67877021C>T			A4UCT5|A8K002|O94795	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.I188	ENST00000303596.1	37	c.564	CCDS10847.1	16																																																																																			THAP11	-	NULL	ENSG00000168286		0.657	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP11	HGNC	protein_coding	OTTHUMT00000268879.1	-	0	53	0	C	NM_020457		67877021	1	tier1	-	no_errors	ENST00000303596	ensembl	human	known	74_37	silent	44.90	27	22	SNP	0.997	T	T	67877021	C	T	67877021	2	4	74	1	0	0	0	0	0	0	0	1	15890	874	31	1		1	THAP11	16	67877021	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	17058782	67877021	22477732	150	19800											
PLCG2	5336	genome.wustl.edu	37	chr16	81942086	81942086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaggtggagaagaggacGagtgccgagaagttgctgca	14	5	17	5	2	0	4	0	0	0	4	0	8	0	5	1	3	3	3	1	3	4	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr16:81942086G>A	ENST00000359376.3	+	17	1837	c.1623G>A	c.(1621-1623)acG>acA	p.T541T		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	541	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		T -> A (in dbSNP:rs11548657).		B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552																																																	0													77	80	79					16																	81942086		2004	4172	6176	SO:0001819	synonymous_variant	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1623G>A	16.37:g.81942086G>A			D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.T541	ENST00000359376.3	37	c.1623	CCDS42204.1	16																																																																																			PLCG2	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2	ENSG00000197943		0.552	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	-	0	116	0	G			81942086	1	tier1	-	no_errors	ENST00000359376	ensembl	human	known	74_37	silent	30.61	68	30	SNP	0.592	A	A	81942086	G	A	81942086	2	1	74	1	0	0	0	0	0	0	0	1	12075	1045	37	1		1	PLCG2	16	81942086	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	14065065	81942086	8412667	151	19801											
TSR1	55720	genome.wustl.edu	37	chr17	2236267	2236267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttacctgagattcctcCtccataaaatcctcatgttc	9	15	3	14	0	1	1	1	1	0	1	7	2	6	1	6	0	1	1	6	0	3	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:2236267C>T	ENST00000301364.5	-	7	2372	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	431	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGATTCCTCCTCCATAAAAT	0.448																																																	0													158	144	148					17																	2236267		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"TSR1, 20S rRNA accumulation, homolog (yeast)"			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1293G>A	17.37:g.2236267C>T			Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN	p.E431	ENST00000301364.5	37	c.1293	CCDS32525.1	17																																																																																			TSR1	-	NULL	ENSG00000167721		0.448	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR1	HGNC	protein_coding	OTTHUMT00000438180.2	-	0	72	0	C	NM_018128		2236267	-1	tier1	-	no_errors	ENST00000301364	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.997	T	T	2236267	C	T	2236267	2	4	74	1	0	0	0	0	0	0	0	1	16712	680	24	3		3	TSR1	17	2236267	Silent	SNP	C	TCGA-L5-A88W-01A-11D-A351-09		2236267	78958943	152	19802											
C17orf85	55421	genome.wustl.edu	37	chr17	3743435	3743435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaggctacatttctttggGcaagatttacttccgatcga	10	13	8	10	2	1	1	0	0	1	1	3	3	2	1	2	2	2	2	2	2	4	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:3743435G>T	ENST00000389005.4	-	3	341	c.314C>A	c.(313-315)gCc>gAc	p.A105D	C17orf85_ENST00000158149.3_5'UTR	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	105							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATTTCTTTGGGCAAGATTTAC	0.423																																																	0													231	189	202					17																	3743435		692	1591	2283	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.314C>A	17.37:g.3743435G>T	ENSP00000373657:p.Ala105Asp		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.A105D	ENST00000389005.4	37	c.314	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041717	0.19748	.	.	ENSG00000074356	ENST00000389005	.	.	.	5.18	4.16	0.48862	.	0.641212	0.16491	N	0.212098	T	0.41213	0.1149	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18335	-1.0340	9	0.18276	T	0.48	-2.9244	12.3499	0.55143	0.0:0.1705:0.8295:0.0	.	105	Q53F19	CQ085_HUMAN	D	105	.	ENSP00000373657:A105D	A	-	2	0	C17orf85	3690184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.103000	0.64578	2.571000	0.86741	0.655000	0.94253	GCC	C17orf85	-	NULL	ENSG00000074356		0.423	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	-	0	88	0	G	NM_018553		3743435	-1	tier1	-	no_errors	ENST00000389005	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	3743435	G	T	3743435	3	4	74	1	0	0	0	0	1	0	0	0	1894	1203	42	3	1592	3	C17orf85	17	3743435	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1507168	3743435	77451775	153	19803											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8222159	8222159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggggcgtgctctttgcctCgcgcccccgcttcacccctc	1	9	12	19	4	2	0	1	0	1	0	4	0	2	0	5	3	2	2	5	3	0	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:8222159C>T	ENST00000361926.3	+	12	2074	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S655L|ARHGEF15_ENST00000582060.1_3'UTR|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	655					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCTTTGCCTCGCGCCCCCGC	0.642																																																	0													128	146	140					17																	8222159		2203	4300	6503	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1964C>T	17.37:g.8222159C>T	ENSP00000355026:p.Ser655Leu		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S655L	ENST00000361926.3	37	c.1964	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	c	10.75	1.439249	0.25900	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.70986	-0.53;-0.53	4.84	3.85	0.44370	Pleckstrin homology-type (1);	0.450508	0.25208	N	0.032331	T	0.48660	0.1512	N	0.19112	0.55	0.34647	D	0.721249	B;B	0.31077	0.307;0.307	B;B	0.23018	0.043;0.043	T	0.54200	-0.8329	10	0.13470	T	0.59	-9.9981	10.0592	0.42263	0.3668:0.6332:0.0:0.0	.	655;655	D3DTR7;O94989	.;ARHGF_HUMAN	L	655;445;655	ENSP00000355026:S655L;ENSP00000412505:S655L	ENSP00000355026:S655L	S	+	2	0	ARHGEF15	8162884	0.987000	0.35691	0.989000	0.46669	0.758000	0.43043	2.607000	0.46300	1.228000	0.43614	0.561000	0.74099	TCG	ARHGEF15	-	NULL	ENSG00000198844		0.642	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0	30	0	C	NM_173728		8222159	1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.970	T	T	8222159	C	T	8222159	3	4	74	1	0	0	0	0	1	0	0	0	898	893	31	1	2006	1	ARHGEF15	17	8222159	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	4478724	8222159	72973051	154	19804											
WDR16	146845	genome.wustl.edu	37	chr17	9497542	9497542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcatagccaagagagatgCcatctgtggcagccctgcag	11	6	13	11	0	1	2	0	0	1	2	1	4	1	2	3	1	5	3	3	1	2	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:9497542C>G	ENST00000352665.5	+	4	509	c.440C>G	c.(439-441)gCc>gGc	p.A147G	WDR16_ENST00000299764.5_Missense_Mutation_p.A157G|WDR16_ENST00000576499.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.A79G	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGAGAGATGCCATCTGTGGC	0.458																																																	0													109	112	111					17																	9497542		2203	4300	6503	SO:0001583	missense	0			AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"WD repeat domain containing"	16053	protein-coding gene	gene with protein product	"WD40-repeat protein upregulated in HCC"	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.440C>G	17.37:g.9497542C>G	ENSP00000339449:p.Ala147Gly			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A157G	ENST00000352665.5	37	c.470	CCDS11149.2	17	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007812	0.93287	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.89939	1.06;-2.59;5.01	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94634	0.8270	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.984	D;D;P	0.77557	0.99;0.986;0.669	D	0.94954	0.8102	10	0.72032	D	0.01	-27.4122	18.0915	0.89477	0.0:1.0:0.0:0.0	.	157;79;147	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	G	147;79;157	ENSP00000339449:A147G;ENSP00000379521:A79G;ENSP00000299764:A157G	ENSP00000299764:A157G	A	+	2	0	WDR16	9438267	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.760000	0.74939	2.645000	0.89757	0.591000	0.81541	GCC	WDR16	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000166596		0.458	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	HGNC	protein_coding	OTTHUMT00000316569.2	-	0	61	0	C	NM_145054		9497542	1	tier1	-	no_errors	ENST00000299764	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	G	G	9497542	C	G	9497542	3	3	74	1	0	0	0	0	1	0	0	0	17325	739	26	5	454	5	WDR16	17	9497542	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1275383	9497542	71697668	155	19805											
TOM1L2	146691	genome.wustl.edu	37	chr17	17783045	17783045	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgacgtccagttcactccGcagcctggcaatctggtggg	8	8	12	13	3	2	0	1	0	1	0	4	1	4	0	3	3	2	3	3	3	2	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:17783045G>T	ENST00000379504.3	-	7	756	c.673C>A	c.(673-675)Cgg>Agg	p.R225R	TOM1L2_ENST00000540946.1_Silent_p.R127R|TOM1L2_ENST00000535933.1_Silent_p.R172R|TOM1L2_ENST00000318094.10_Silent_p.R180R|TOM1L2_ENST00000581396.1_Silent_p.R175R|TOM1L2_ENST00000542206.1_Silent_p.R77R|TOM1L2_ENST00000395739.4_Silent_p.R180R	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	225	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					AGTTCACTCCGCAGCCTGGCA	0.507																																					Melanoma(192;2505 2909 14455 25269)												0													115	104	108					17																	17783045		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.673C>A	17.37:g.17783045G>T			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.R225	ENST00000379504.3	37	c.673	CCDS42270.1	17																																																																																			TOM1L2	-	pfam_GAT,pirsf_TOM1,pfscan_GAT	ENSG00000175662		0.507	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	-	0	54	0	G			17783045	-1	tier1	-	no_errors	ENST00000379504	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	17783045	G	T	17783045	2	4	74	1	0	0	0	0	0	0	0	1	16400	1086	38	2		2	TOM1L2	17	17783045	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	8285503	17783045	63412165	156	19806											
SPAG5	10615	genome.wustl.edu	37	chr17	26905265	26905265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacttgatcatgagtttttCcttctcatttttcatctcca	8	19	4	10	0	4	2	3	2	2	0	7	3	5	2	2	0	1	1	2	0	1	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:26905265C>T	ENST00000321765.5	-	22	3732	c.3400G>A	c.(3400-3402)Gaa>Aaa	p.E1134K	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000395319.3_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1134					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGAGTTTTTCCTTCTCATTT	0.488																																																	0													117	98	104					17																	26905265		2203	4300	6503	SO:0001583	missense	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"mitotic spindle coiled-coil related protein", "astrin", "mitotic spindle associated protein p126"	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3400G>A	17.37:g.26905265C>T	ENSP00000323300:p.Glu1134Lys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.E1134K	ENST00000321765.5	37	c.3400	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	c	6.447	0.450612	0.12223	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.92	2.85	0.33270	.	0.896444	0.09566	N	0.784901	T	0.18002	0.0432	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.29027	-1.0025	9	0.18276	T	0.48	0.7641	7.2035	0.25895	0.0:0.6799:0.0:0.3201	.	1134	Q96R06	SPAG5_HUMAN	K	1134	.	ENSP00000323300:E1134K	E	-	1	0	SPAG5	23929392	0.000000	0.05858	0.985000	0.45067	0.994000	0.84299	0.140000	0.16056	0.837000	0.34925	0.651000	0.88453	GAA	SPAG5	-	NULL	ENSG00000076382		0.488	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	-	0	34	0	C	NM_006461		26905265	-1	tier1	-	no_errors	ENST00000321765	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.207	T	T	26905265	C	T	26905265	3	4	74	1	0	0	0	0	1	0	0	0	15028	864	30	3	193	3	SPAG5	17	26905265	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	9122220	26905265	54289945	157	19807											
GPR179	440435	genome.wustl.edu	37	chr17	36483702	36483702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctgtctttgggtcttgtCtcaggtcccccttctctgtt	3	17	8	13	0	4	0	1	0	4	0	7	0	5	0	3	2	1	1	3	2	1	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:36483702C>G	ENST00000342292.4	-	11	5770	c.5750G>C	c.(5749-5751)aGa>aCa	p.R1917T	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1917					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1917I(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGGTCTTGTCTCAGGTCCCC	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											78	77	77					17																	36483702		1929	4148	6077	SO:0001583	missense	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5750G>C	17.37:g.36483702C>G	ENSP00000345060:p.Arg1917Thr			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.R1917T	ENST00000342292.4	37	c.5750	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	12.17	1.856772	0.32791	.	.	ENSG00000188888	ENST00000342292	T	0.49720	0.77	4.9	-0.548	0.11833	.	0.775586	0.11371	N	0.570869	T	0.17450	0.0419	N	0.04880	-0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21724	-1.0237	10	0.07813	T	0.8	-1.0916	1.5965	0.02665	0.1295:0.2716:0.1654:0.4336	.	1917	Q6PRD1	GP179_HUMAN	T	1917	ENSP00000345060:R1917T	ENSP00000345060:R1917T	R	-	2	0	GPR179	33737228	0.000000	0.05858	0.926000	0.36857	0.612000	0.37316	-1.366000	0.02585	-0.198000	0.10333	0.561000	0.74099	AGA	GPR179	-	NULL	ENSG00000188888		0.507	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0	80	0	C			36483702	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	missense	25.81	46	16	SNP	0.030	G	G	36483702	C	G	36483702	3	3	74	1	0	0	0	0	1	0	0	0	6700	913	32	5	1357	5	GPR179	17	36483702	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	9578437	36483702	44711508	158	19808											
KIAA1267	284058	genome.wustl.edu	37	chr17	44248467	44248467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaggcagcttcagcctttCgagtcagcatcaactggctc	9	10	9	13	1	4	0	4	0	0	0	6	1	4	0	1	2	4	4	1	2	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:44248467C>T	ENST00000262419.6	-	2	1513	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	KANSL1_ENST00000432791.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000572904.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000575318.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.R348Q|KANSL1_ENST00000576248.1_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	348					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TTCAGCCTTTCGAGTCAGCAT	0.458																																																	0													68	87	80					17																	44248467		2203	4300	6503	SO:0001583	missense	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1043G>A	17.37:g.44248467C>T	ENSP00000262419:p.Arg348Gln		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.R348Q	ENST00000262419.6	37	c.1043	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828438	0.71143	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.11604	2.76;2.76	5.94	5.94	0.96194	.	0.279693	0.33753	N	0.004596	T	0.22820	0.0551	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.978;0.996	B;D	0.68192	0.361;0.956	T	0.00428	-1.1745	10	0.54805	T	0.06	-4.6431	18.9413	0.92607	0.0:1.0:0.0:0.0	.	348;348	C9JHY2;Q7Z3B3	.;K1267_HUMAN	Q	348	ENSP00000262419:R348Q;ENSP00000387393:R348Q	ENSP00000262419:R348Q	R	-	2	0	KIAA1267	41604244	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.359000	0.66074	2.826000	0.97356	0.561000	0.74099	CGA	KANSL1	-	NULL	ENSG00000120071		0.458	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	-	0	82	0	C	NM_015443		44248467	-1	tier1	-	no_errors	ENST00000262419	ensembl	human	known	74_37	missense	48.72	40	38	SNP	1.000	T	T	44248467	C	T	44248467	3	4	74	1	0	0	0	0	1	0	0	0	8246	884	31	1	2330	1	KIAA1267	17	44248467	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	7764765	44248467	36946743	159	19809											
SPOP	8405	genome.wustl.edu	37	chr17	47699360	47699360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagaacttttaatgacttCacccatttcctcccggcaaa	11	13	5	12	1	1	2	1	1	0	1	3	2	3	2	3	1	1	2	3	1	4	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:47699360C>T	ENST00000393328.2	-	4	513	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	SPOP_ENST00000393331.3_Missense_Mutation_p.E50K|SPOP_ENST00000504102.1_Missense_Mutation_p.E50K|SPOP_ENST00000503676.1_Missense_Mutation_p.E50K|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.E50K	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	50	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.E50K(3)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTAATGACTTCACCCATTTCC	0.348										Prostate(2;0.17)																																							3	Substitution - Missense(3)	endometrium(3)											69	64	66					17																	47699360		2203	4300	6503	SO:0001583	missense	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"BTB/POZ domain containing"	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.148G>A	17.37:g.47699360C>T	ENSP00000377001:p.Glu50Lys		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.E50K	ENST00000393328.2	37	c.148	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649335	0.87958	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476	T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	5.34	5.34	0.76211	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.35414	1.06	0.80722	D	1	B	0.14805	0.011	B	0.17979	0.02	T	0.10268	-1.0637	10	0.15952	T	0.53	-1.7919	18.8261	0.92119	0.0:1.0:0.0:0.0	.	50	O43791	SPOP_HUMAN	K	50;50;50;50;50;3;50;50;50;50;50;50	ENSP00000377001:E50K;ENSP00000377004:E50K;ENSP00000240327:E50K;ENSP00000425905:E50K;ENSP00000420908:E50K;ENSP00000426986:E50K;ENSP00000420960:E50K;ENSP00000426262:E50K;ENSP00000424119:E50K;ENSP00000426537:E50K;ENSP00000425410:E50K	ENSP00000240327:E50K	E	-	1	0	SPOP	45054359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.781000	0.95711	0.650000	0.86243	GAA	SPOP	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000121067		0.348	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	-	0	108	0	C	NM_003563		47699360	-1	tier1	-	no_errors	ENST00000347630	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	T	T	47699360	C	T	47699360	3	4	74	1	0	0	0	0	1	0	0	0	15131	835	29	3	1008	3	SPOP	17	47699360	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	3450893	47699360	33495850	160	19810											
TANC2	26115	genome.wustl.edu	37	chr17	61497497	61497497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagccaccgccgccacCgcagcctcagcagcagttgc	9	3	10	19	3	1	0	1	0	0	0	1	0	1	0	6	0	6	5	6	0	0	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:61497497C>T	ENST00000424789.2	+	25	4158	c.4154C>T	c.(4153-4155)cCg>cTg	p.P1385L	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1395L	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1385					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ccgccgccaccgcagcctcag	0.537																																																	0													27	33	31					17																	61497497		2186	4270	6456	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4154C>T	17.37:g.61497497C>T	ENSP00000387593:p.Pro1385Leu		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.P1385L	ENST00000424789.2	37	c.4154	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	1.076	-0.668393	0.03428	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66638	-0.22;-0.21	5.58	0.56	0.17279	.	0.121482	0.56097	D	0.000028	T	0.43986	0.1272	N	0.08118	0	0.09310	N	1	B	0.17852	0.024	B	0.12156	0.007	T	0.18967	-1.0320	10	0.27082	T	0.32	.	14.6727	0.68956	0.391:0.609:0.0:0.0	.	1385	Q9HCD6	TANC2_HUMAN	L	1395;1385	ENSP00000374171:P1395L;ENSP00000387593:P1385L	ENSP00000374171:P1395L	P	+	2	0	TANC2	58851229	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.519000	0.22862	-0.164000	0.10927	0.561000	0.74099	CCG	TANC2	-	NULL	ENSG00000170921		0.537	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	-	0	47	0	C			61497497	1	tier1	-	no_errors	ENST00000424789	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.065	T	T	61497497	C	T	61497497	3	4	74	1	0	0	0	0	1	0	0	0	15592	652	23	1	4252	1	TANC2	17	61497497	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	13798137	61497497	19697713	161	19811											
ABCA10	10349	genome.wustl.edu	37	chr17	67160217	67160217	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagaaaatgttccttactaTtaaggttgttaaaagaatgg	15	14	9	3	0	0	2	0	0	0	2	1	2	1	2	1	2	1	4	1	2	9	7			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:67160217T>C	ENST00000269081.4	-	28	4270	c.3361A>G	c.(3361-3363)Ata>Gta	p.I1121V	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1121					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCCTTACTATTAAGGTTGTT	0.308																																																	0													54	58	57					17																	67160217		2202	4294	6496	SO:0001583	missense	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3361A>G	17.37:g.67160217T>C	ENSP00000269081:p.Ile1121Val		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1121V	ENST00000269081.4	37	c.3361	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693319	0.30052	.	.	ENSG00000154263	ENST00000269081	D	0.87809	-2.3	2.78	2.78	0.32641	.	1.417490	0.05954	U	0.639291	D	0.84669	0.5523	M	0.62723	1.935	0.80722	D	1	B;B	0.23128	0.01;0.08	B;B	0.26864	0.015;0.074	T	0.71140	-0.4679	10	0.21540	T	0.41	.	7.0676	0.25161	0.0:0.0:0.0:1.0	.	113;1121	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	V	1121	ENSP00000269081:I1121V	ENSP00000269081:I1121V	I	-	1	0	ABCA10	64671812	0.901000	0.30685	0.948000	0.38648	0.329000	0.28539	0.711000	0.25764	1.136000	0.42199	0.460000	0.39030	ATA	ABCA10	-	NULL	ENSG00000154263		0.308	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	-	0	65	0	T	NM_080282		67160217	-1	tier1	-	no_errors	ENST00000269081	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.994	C	C	67160217	T	C	67160217	3	2	74	1	0	0	0	0	1	0	0	0	29	1493	52	4	1322	4	ABCA10	17	67160217	Missense_Mutation	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	5662720	67160217	14034993	162	19812											
GPS1	2873	genome.wustl.edu	37	chr17	80011791	80011791	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggcctgatgcgcatcgaAcggctgcagttcattgctga	8	9	13	11	4	1	2	1	2	0	0	2	3	1	2	1	2	5	5	1	2	1	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:80011791A>G	ENST00000306823.6	+	3	197	c.174A>G	c.(172-174)gaA>gaG	p.E58E	GPS1_ENST00000320548.4_Silent_p.E42E|GPS1_ENST00000355130.2_Silent_p.E98E|RFNG_ENST00000429557.3_5'Flank|RFNG_ENST00000310496.4_5'Flank|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_Silent_p.E98E|GPS1_ENST00000578552.1_Silent_p.E58E			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	58					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGCGCATCGAACGGCTGCAGT	0.612																																																	0													64	52	56					17																	80011791		2200	4299	6499	SO:0001819	synonymous_variant	0				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"COP9 signalosome subunit 1"	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.174A>G	17.37:g.80011791A>G			Q8NA10|Q9BWL1	Silent	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.E98	ENST00000306823.6	37	c.294	CCDS32774.1	17																																																																																			GPS1	-	NULL	ENSG00000169727		0.612	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1		0	46	0	A	NM_212492		80011791	1			no_errors	ENST00000355130	ensembl	human	known	74_37	silent	7.32	38	3	SNP	1.000	G	G	80011791	A	G	80011791	2	3	74	1	0	0	0	0	0	0	0	1	6759	40	2	4		4	GPS1	17	80011791	Silent	SNP	A	TCGA-L5-A88W-01A-11D-A351-09	12851574	80011791	1183419	163	19813											
FN3K	64122	genome.wustl.edu	37	chr17	80706816	80706816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcattgagaaggactatgCtgaccgagaggcacgagaac	13	6	12	10	2	1	4	1	2	0	3	1	8	1	5	2	2	2	2	2	2	3	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr17:80706816C>T	ENST00000300784.7	+	5	616	c.554C>T	c.(553-555)gCt>gTt	p.A185V		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	185					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AAGGACTATGCTGACCGAGAG	0.597																																					Melanoma(10;391 597 14592 32548 32749)												0													58	54	56					17																	80706816		2203	4300	6503	SO:0001583	missense	0			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.554C>T	17.37:g.80706816C>T	ENSP00000300784:p.Ala185Val			Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.A185V	ENST00000300784.7	37	c.554	CCDS11818.1	17	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122581	0.77436	.	.	ENSG00000167363	ENST00000300784;ENST00000536165	T	0.54071	0.59	4.08	0.0169	0.14110	Protein kinase-like domain (1);	0.115316	0.64402	D	0.000019	T	0.32675	0.0837	N	0.08118	0	0.36428	D	0.864759	P;P	0.43231	0.584;0.801	B;B	0.43623	0.425;0.425	T	0.30387	-0.9980	9	.	.	.	1.0469	14.2537	0.66038	0.0:0.2839:0.716:0.0	.	185;140	Q9H479;B3KNR9	FN3K_HUMAN;.	V	185;140	ENSP00000300784:A185V	.	A	+	2	0	FN3K	78300105	0.995000	0.38212	1.000000	0.80357	0.967000	0.64934	2.350000	0.44063	0.270000	0.21984	-0.176000	0.13171	GCT	FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000167363		0.597	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	-	0	53	0	C	NM_022158		80706816	1	tier1	-	no_errors	ENST00000300784	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	80706816	C	T	80706816	3	4	74	1	0	0	0	0	1	0	0	0	5985	797	28	3	572	3	FN3K	17	80706816	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	695025	80706816	488394	164	19814											
COLEC12	81035	genome.wustl.edu	37	chr18	334825	334825	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaggagggccgggggggCccttggggcctggcatgcct	3	5	21	12	1	0	0	0	0	0	0	0	1	0	1	5	9	1	1	5	9	0	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr18:334825C>G	ENST00000400256.3	-	6	1940	c.1733G>C	c.(1732-1734)gGc>gCc	p.G578A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	578	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCGGGGGGGCCCTTGGGGCC	0.697																																																	0													18	19	19					18																	334825		2199	4287	6486	SO:0001583	missense	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1733G>C	18.37:g.334825C>G	ENSP00000383115:p.Gly578Ala		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.G578A	ENST00000400256.3	37	c.1733	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497324	0.26861	.	.	ENSG00000158270	ENST00000400256	D	0.99607	-6.27	5.39	4.52	0.55395	.	0.160292	0.53938	D	0.000041	D	0.99711	0.9889	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97388	0.9987	10	0.87932	D	0	-7.4574	14.3713	0.66840	0.0:0.9283:0.0:0.0717	.	578	Q5KU26	COL12_HUMAN	A	578	ENSP00000383115:G578A	ENSP00000383115:G578A	G	-	2	0	COLEC12	324825	1.000000	0.71417	0.735000	0.30896	0.160000	0.22226	5.523000	0.67099	1.259000	0.44117	0.561000	0.74099	GGC	COLEC12	-	pfam_Collagen	ENSG00000158270		0.697	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	-	0	54	0	C			334825	-1	tier1	-	no_errors	ENST00000400256	ensembl	human	known	74_37	missense	37.74	32	20	SNP	1.000	G	G	334825	C	G	334825	3	3	74	1	0	0	0	0	1	0	0	0	3719	739	26	5	515	5	COLEC12	18	334825	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09		334825	77742423	165	19815											
ZNF516	9658	genome.wustl.edu	37	chr18	74153320	74153320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgctgggctgggaggccGagtcaccctcactgagtgat	6	8	16	11	1	2	2	2	2	0	0	2	4	2	3	2	4	1	3	2	4	0	0	rs569947953		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr18:74153320G>A	ENST00000443185.2	-	3	2008	c.1691C>T	c.(1690-1692)tCg>tTg	p.S564L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	564					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGGGAGGCCGAGTCACCCTC	0.736													G|||	1	0.000199681	8e-04	0	5008	,	,		11068	0		0	False		,,,				2504	0																0													14	18	17					18																	74153320		2041	4165	6206	SO:0001583	missense	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"Zinc fingers, C2H2-type"	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1691C>T	18.37:g.74153320G>A	ENSP00000394757:p.Ser564Leu			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S564L	ENST00000443185.2	37	c.1691		18	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398778	0.62177	.	.	ENSG00000101493	ENST00000443185	T	0.16597	2.33	4.88	4.01	0.46588	.	0.203239	0.33792	N	0.004553	T	0.28699	0.0711	.	.	.	0.42787	D	0.99388	D	0.76494	0.999	P	0.56163	0.793	T	0.03619	-1.1019	9	0.62326	D	0.03	0.1913	6.6691	0.23058	0.1535:0.0:0.7036:0.1429	.	564	Q92618	ZN516_HUMAN	L	564	ENSP00000394757:S564L	ENSP00000394757:S564L	S	-	2	0	ZNF516	72282308	1.000000	0.71417	0.977000	0.42913	0.776000	0.43924	7.185000	0.77714	1.183000	0.42943	0.655000	0.94253	TCG	ZNF516	-	NULL	ENSG00000101493		0.736	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding			0	11	0	G	NM_014643		74153320	-1			no_errors	ENST00000443185	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.984	A	A	74153320	G	A	74153320	3	1	74	1	0	0	0	0	1	0	0	0	18008	1059	37	1	1821	1	ZNF516	18	74153320	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	73818495	74153320	3923928	166	19816											
SF3A2	8175	genome.wustl.edu	37	chr19	2243467	2243469	+	In_Frame_Del	DEL	CCT	CCT	-																															gaccgggagcgggggcgtggCctcctcctccgagagcaacc																										TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:2243467_2243469delCCT	ENST00000221494.5	+	2	468_470	c.50_52delCCT	c.(49-54)gcctcc>gcc	p.S20del		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	20					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGCGTGGCCTCCTCCTCCGA	0.67																																																	0																																										SO:0001651	inframe_deletion	0			L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"splicing factor 3a, subunit 2, 66kD"			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.50_52delCCT	19.37:g.2243473_2243475delCCT	ENSP00000221494:p.Ser20del		B2RBU1|D6W605|O75245	In_Frame_Del	DEL	smart_Znf_U1,pfscan_Znf_C2H2_matrin	p.S20in_frame_del	ENST00000221494.5	37	c.50_52	CCDS12084.1	19																																																																																			SF3A2	-	NULL	ENSG00000104897		0.67	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A2	HGNC	protein_coding	OTTHUMT00000451268.3		0	66	0	CCT			2243469	1	tier1		no_errors	ENST00000221494	ensembl	human	known	74_37	in_frame_del	30.00	49	21	DEL	1.000:0.996:1.000	-	-	2243469	CCT	-	2243467	7	5	74	1	0	1	0	1	0	0	0	0	14192	739	26	0	52	0	SF3A2	19	2243467	In_Frame_Del	DEL	CCT	TCGA-L5-A88W-01A-11D-A351-09		2243467	56885516	167	19817											
TRAPPC5	126003	genome.wustl.edu	37	chr19	7747244	7747244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgcactgctgttctccgaGctggtacagcactgccagag	7	10	11	13	2	1	1	0	0	1	1	3	2	1	1	2	1	5	6	2	1	1	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:7747244G>T	ENST00000317378.5	+	2	292	c.105G>T	c.(103-105)gaG>gaT	p.E35D	TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.E35D|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.S94I|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.E35D	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	35					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						TGTTCTCCGAGCTGGTACAGC	0.746																																																	0													11	13	12					19																	7747244		1744	3685	5429	SO:0001583	missense	0			BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"Trafficking protein particle complex"	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.105G>T	19.37:g.7747244G>T	ENSP00000316990:p.Glu35Asp		A8K7I6	Missense_Mutation	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5	p.E35D	ENST00000317378.5	37	c.105	CCDS42490.1	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262497	0.80358	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.61158	0.13;0.13	4.09	4.09	0.47781	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.81197	0.4772	H	0.96777	3.88	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	D	0.84225	0.0463	10	0.87932	D	0	-2.8181	7.8485	0.29440	0.1169:0.0:0.8831:0.0	.	35	Q8IUR0	TPPC5_HUMAN	D	35	ENSP00000316990:E35D;ENSP00000399025:E35D	ENSP00000316990:E35D	E	+	3	2	TRAPPC5	7653244	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.484000	0.53201	1.837000	0.53436	0.555000	0.69702	GAG	TRAPPC5	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_su5	ENSG00000181029		0.746	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC5	HGNC	protein_coding	OTTHUMT00000461252.1	-	0	37	0	G	XM_058961		7747244	1	tier1	-	no_errors	ENST00000317378	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	7747244	G	T	7747244	3	4	74	1	0	0	0	0	1	0	0	0	16510	962	34	3	107	3	TRAPPC5	19	7747244	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	5503777	7747244	51381739	168	19818											
ZNF266	10781	genome.wustl.edu	37	chr19	9524911	9524911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtgtgggttcccatGtgaatattaaggtatgcaga	10	13	11	7	0	1	2	0	1	1	1	3	2	2	2	2	2	1	3	2	2	4	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:9524911G>T	ENST00000592904.1	-	5	2766	c.690C>A	c.(688-690)caC>caA	p.H230Q	ZNF266_ENST00000590306.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.H230Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000361151.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.H230Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.H230Q			Q14584	ZN266_HUMAN	zinc finger protein 266	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GGGTTCCCATGTGAATATTAA	0.428																																																	0													105	95	98					19																	9524911		2203	4300	6503	SO:0001583	missense	0			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.690C>A	19.37:g.9524911G>T	ENSP00000466714:p.His230Gln		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H230Q	ENST00000592904.1	37	c.690	CCDS12213.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385226	0.42308	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	D;D	0.86865	-2.18;-2.18	2.91	-4.6	0.03390	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94499	0.8229	H	0.97158	3.95	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89300	0.3625	9	0.87932	D	0	.	10.8829	0.46948	0.7705:0.0:0.2295:0.0	.	230	Q14584	ZN266_HUMAN	Q	230	ENSP00000354680:H230Q;ENSP00000355047:H230Q	ENSP00000355047:H230Q	H	-	3	2	ZNF266	9385911	0.006000	0.16342	0.000000	0.03702	0.110000	0.19582	-0.294000	0.08309	-1.022000	0.03346	-0.266000	0.10368	CAC	ZNF266	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174652		0.428	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF266	HGNC	protein_coding	OTTHUMT00000449033.1		0	69	0	G			9524911	-1			no_errors	ENST00000361151	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	T	T	9524911	G	T	9524911	3	4	74	1	0	0	0	0	1	0	0	0	17853	1368	48	3	963	3	ZNF266	19	9524911	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1777667	9524911	49604072	169	19819											
SMARCA4	6597	genome.wustl.edu	37	chr19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccgccgcctgctgctgaCgggcacaccgctgcagaaca	8	4	11	18	4	0	2	0	1	0	1	0	2	0	2	5	1	4	5	5	1	1	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:11132513C>T	ENST00000429416.3	+	20	3010	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000358026.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T910M(6)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	7	Substitution - Missense(6)|Unknown(1)	central_nervous_system(6)|lung(1)											88	68	75					19																	11132513		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2729C>T	19.37:g.11132513C>T	ENSP00000395654:p.Thr910Met		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.T910M	ENST00000429416.3	37	c.2729	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	16.22	3.061387	0.55432	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.996;0.994;1.0;0.998;0.998	D	0.98869	1.0765	10	0.87932	D	0	-34.7546	16.1519	0.81629	0.0:1.0:0.0:0.0	.	910;910;910;910;910;130;910;910	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	M	910;910;974;910;910;910;910;910	ENSP00000395654:T910M;ENSP00000350720:T910M;ENSP00000343896:T910M;ENSP00000445036:T910M;ENSP00000392837:T910M;ENSP00000397783:T910M;ENSP00000414727:T910M	ENSP00000343896:T910M	T	+	2	0	SMARCA4	10993513	1.000000	0.71417	0.968000	0.41197	0.009000	0.06853	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	ACG	SMARCA4	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000127616		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	37	0	C	NM_003072		11132513	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	37.93	36	22	SNP	0.999	T	T	11132513	C	T	11132513	3	4	74	1	0	0	0	0	1	0	0	0	14815	536	19	1	2799	1	SMARCA4	19	11132513	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1607602	11132513	47996470	170	19820											
TPM4	7171	genome.wustl.edu	37	chr19	16186866	16186866	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtcgtccccaggtggaggagGagctgacgcacctccagaag	9	5	15	12	2	0	2	0	1	0	1	3	5	2	5	4	4	1	2	4	4	1	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:16186866G>C	ENST00000300933.4	+	0	0				TPM4_ENST00000538887.1_Missense_Mutation_p.E42Q|TPM4_ENST00000344824.6_Missense_Mutation_p.E42Q	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GGTGGAGGAGGAGCTGACGCA	0.612			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													31	31	31					19																	16186866		1567	3577	5144	SO:0001631	upstream_gene_variant	0				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134		19.37:g.16186866G>C	Exception_encountered		P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E42Q	ENST00000300933.4	37	c.124	CCDS12338.1	19	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547126	0.86022	.	.	ENSG00000167460	ENST00000344824;ENST00000538887	T;T	0.81163	-1.46;-1.46	3.97	2.89	0.33648	.	7739.210000	0.00166	U	0.000005	D	0.86936	0.6053	.	.	.	0.41869	D	0.990266	P	0.43519	0.809	P	0.51999	0.687	T	0.71922	-0.4446	9	0.87932	D	0	-9.613	11.9073	0.52719	0.0:0.1856:0.8144:0.0	.	42	P67936-2	.	Q	42	ENSP00000345230:E42Q;ENSP00000439135:E42Q	ENSP00000345230:E42Q	E	+	1	0	TPM4	16047866	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.591000	0.82666	0.820000	0.34516	0.591000	0.81541	GAG	TPM4	-	NULL	ENSG00000167460		0.612	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2	-	0	91	0	G	NM_003290		16186866	1	tier1	-	no_errors	ENST00000344824	ensembl	human	known	74_37	missense	27.27	48	18	SNP	1.000	C	C	16186866	G	C	16186866	1	2	74	0	1	0	0	0	0	0	0	0	16456	1175	41	5		5	TPM4	19	16186866	5'Flank	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	5054353	16186866	42942117	171	19821											
TPM4	7171	genome.wustl.edu	37	chr19	16186908	16186908	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactaaaagggacagaggacGagctggataaatattccgag	17	6	12	6	2	0	1	0	0	0	1	1	6	1	4	1	3	2	1	1	3	6	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:16186908G>A	ENST00000300933.4	+	0	0				TPM4_ENST00000538887.1_Missense_Mutation_p.E56K|TPM4_ENST00000344824.6_Missense_Mutation_p.E56K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GACAGAGGACGAGCTGGATAA	0.617			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													35	36	36					19																	16186908		1567	3577	5144	SO:0001631	upstream_gene_variant	0				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"Tropomyosins"	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134		19.37:g.16186908G>A	Exception_encountered		P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E56K	ENST00000300933.4	37	c.166	CCDS12338.1	19	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402627	0.62288	.	.	ENSG00000167460	ENST00000344824;ENST00000538887	T;T	0.80033	-1.33;-1.33	3.74	3.74	0.42951	.	0.875698	0.09166	U	0.839582	T	0.77089	0.4079	.	.	.	0.36495	D	0.86865	B	0.17667	0.023	B	0.17098	0.017	T	0.74399	-0.3678	9	0.87932	D	0	-4.1437	14.3058	0.66384	0.0:0.0:1.0:0.0	.	56	P67936-2	.	K	56	ENSP00000345230:E56K;ENSP00000439135:E56K	ENSP00000345230:E56K	E	+	1	0	TPM4	16047908	1.000000	0.71417	0.838000	0.33150	0.256000	0.26092	9.404000	0.97306	1.914000	0.55421	0.591000	0.81541	GAG	TPM4	-	pfam_Tropomyosin	ENSG00000167460		0.617	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2	-	0	123	0	G	NM_003290		16186908	1	tier1	-	no_errors	ENST00000344824	ensembl	human	known	74_37	missense	34.02	64	33	SNP	1.000	A	A	16186908	G	A	16186908	1	1	74	0	1	0	0	0	0	0	0	0	16456	1059	37	1		1	TPM4	19	16186908	5'Flank	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	42	16186908	42942075	172	19822											
UNC13A	23025	genome.wustl.edu	37	chr19	17740954	17740954	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacccactctcccacacCttggcaaagcgcctcatgta	9	8	5	19	1	2	0	1	0	1	0	3	0	2	0	5	1	2	2	5	1	3	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:17740954C>A	ENST00000519716.2	-	30	3668	c.3669G>T	c.(3667-3669)aaG>aaT	p.K1223N	UNC13A_ENST00000550896.1_Splice_Site_p.K1221N|UNC13A_ENST00000552293.1_Splice_Site_p.K1223N|UNC13A_ENST00000551649.1_Splice_Site_p.K1223N|UNC13A_ENST00000252773.7_Splice_Site_p.K1223N|UNC13A_ENST00000428389.2_Splice_Site_p.K1311N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1223	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCTCCCACACCTTGGCAAAGC	0.532																																																	0													39	39	39					19																	17740954		1744	3761	5505	SO:0001630	splice_region_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3669+1G>T	19.37:g.17740954C>A			E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K1311N	ENST00000519716.2	37	c.3933	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	c	15.37	2.813572	0.50527	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	3.01	3.01	0.34805	Munc13 homology 1 (1);	0.061067	0.64402	U	0.000006	T	0.15478	0.0373	L	0.60845	1.875	0.58432	D	0.999992	P	0.39847	0.691	B	0.40165	0.321	T	0.04930	-1.0917	9	.	.	.	.	11.54	0.50661	0.0:1.0:0.0:0.0	.	1223	Q9UPW8	UN13A_HUMAN	N	1223;1311;1223;1223;1223;1221	ENSP00000429562:K1223N;ENSP00000400409:K1311N;ENSP00000252773:K1223N;ENSP00000447236:K1223N;ENSP00000447572:K1223N;ENSP00000446831:K1221N	.	K	-	3	2	UNC13A	17601954	1.000000	0.71417	0.991000	0.47740	0.218000	0.24690	7.664000	0.83830	1.541000	0.49316	0.282000	0.19409	AAG	UNC13A	-	NULL	ENSG00000130477		0.532	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0	77	0	C	XM_038604	Missense_Mutation	17740954	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	35.82	43	24	SNP	1.000	A	A	17740954	C	A	17740954	5	1	74	1	0	0	0	0	0	0	1	0	17033	695	24	3	1498	3	UNC13A	19	17740954	Splice_Site	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1554046	17740954	41388029	173	19823											
ZNF492	57615	genome.wustl.edu	37	chr19	22847630	22847630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactacacataagagaattCatactggagagaagccctac	16	9	7	9	0	1	2	1	0	0	2	1	5	1	3	1	1	5	0	1	1	7	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:22847630C>T	ENST00000456783.2	+	4	1403	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TAAGAGAATTCATACTGGAGA	0.378																																																	0													22	22	22					19																	22847630		1564	3528	5092	SO:0001583	missense	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.1159C>T	19.37:g.22847630C>T	ENSP00000413660:p.His387Tyr		Q08EI7|Q08EI8	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H387Y	ENST00000456783.2	37	c.1159	CCDS46032.1	19	.	.	.	.	.	.	.	.	.	.	.	7.675	0.687727	0.14973	.	.	ENSG00000229676	ENST00000456783	T	0.67523	-0.27	1.12	1.12	0.20585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84065	0.5390	H	0.95187	3.635	0.32494	N	0.539748	D	0.76494	0.999	D	0.91635	0.999	T	0.83186	-0.0086	9	0.72032	D	0.01	.	7.4251	0.27094	0.0:1.0:0.0:0.0	.	387	Q9P255	ZN492_HUMAN	Y	387	ENSP00000413660:H387Y	ENSP00000413660:H387Y	H	+	1	0	ZNF492	22639470	0.859000	0.29813	0.149000	0.22428	0.151000	0.21798	2.640000	0.46579	0.269000	0.21961	0.274000	0.19336	CAT	ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	-	0	77	0	C	NM_020855		22847630	1	tier1	-	no_errors	ENST00000456783	ensembl	human	known	74_37	missense	23.26	66	20	SNP	0.999	T	T	22847630	C	T	22847630	3	4	74	1	0	0	0	0	1	0	0	0	17991	826	29	3	1169	3	ZNF492	19	22847630	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	5106676	22847630	36281353	174	19824											
C19orf55	148137	genome.wustl.edu	37	chr19	36253035	36253035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctccagaccccagcagtCaaagtgcagcaggtacctct	11	7	8	15	0	3	1	1	0	2	1	4	1	3	1	4	1	4	4	4	1	2	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:36253035C>G	ENST00000544099.1	+	4	490	c.427C>G	c.(427-429)Caa>Gaa	p.Q143E	C19orf55_ENST00000536950.1_Missense_Mutation_p.Q143E|C19orf55_ENST00000396908.4_Missense_Mutation_p.Q143E|C19orf55_ENST00000421853.2_Missense_Mutation_p.Q43E|C19orf55_ENST00000537459.1_Missense_Mutation_p.Q143E			Q2NL68	PRSR3_HUMAN		143										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCAGCAGTCAAAGTGCAGC	0.612																																																	0													41	45	44					19																	36253035		1982	4179	6161	SO:0001583	missense	0																														ENST00000544099.1:c.427C>G	19.37:g.36253035C>G	ENSP00000467267:p.Gln143Glu		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	NULL	p.Q143E	ENST00000544099.1	37	c.427		19	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352654	0.24512	.	.	ENSG00000167595	ENST00000444637;ENST00000396908;ENST00000301165;ENST00000537459;ENST00000545674	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	4.68	0.983	0.19767	.	0.419522	0.17620	N	0.167744	T	0.37019	0.0988	L	0.60455	1.87	0.09310	N	1	B;B;B	0.14805	0.011;0.002;0.002	B;B;B	0.12156	0.007;0.004;0.004	T	0.37753	-0.9692	10	0.02654	T	1	-0.6765	12.19	0.54266	0.0:0.4867:0.5133:0.0	.	143;143;143	E5RFB9;Q2NL68-3;Q2NL68-4	.;.;.	E	58;143;143;58;58	ENSP00000394231:Q58E;ENSP00000380116:Q143E;ENSP00000301165:Q143E;ENSP00000440357:Q58E	ENSP00000301165:Q143E	Q	+	1	0	C19orf55	40944875	0.000000	0.05858	0.036000	0.18154	0.664000	0.39144	-0.130000	0.10498	0.642000	0.30620	-0.182000	0.12963	CAA	C19orf55	-	NULL	ENSG00000167595		0.612	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2	-	0	105	0	C			36253035	1	tier1	-	no_errors	ENST00000396908	ensembl	human	known	74_37	missense	49.33	38	37	SNP	0.007	G	G	36253035	C	G	36253035	3	3	74	1	0	0	0	0	1	0	0	0	1944	827	29	5	441	5	C19orf55	19	36253035	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	13405405	36253035	22875948	175	19825											
ARHGAP33	115703	genome.wustl.edu	37	chr19	36279303	36279303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagctggtccctccactCtgagggccagacccgaagct	7	7	10	17	1	1	2	0	1	1	1	4	3	4	2	5	2	2	2	5	2	1	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:36279303C>T	ENST00000007510.4	+	21	3980	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1118F|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1115F			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1279					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCTCCACTCTGAGGGCCAG	0.632																																																	0													4	5	5					19																	36279303		1891	3839	5730	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3836C>T	19.37:g.36279303C>T	ENSP00000007510:p.Ser1279Phe		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S1279F	ENST00000007510.4	37	c.3836		19	.	.	.	.	.	.	.	.	.	.	c	10.98	1.503563	0.26949	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.14893	2.93;2.47;2.88	4.64	2.39	0.29439	.	0.617667	0.13474	N	0.385216	T	0.11836	0.0288	N	0.14661	0.345	0.24798	N	0.992717	B;B	0.31351	0.32;0.32	B;B	0.31101	0.124;0.086	T	0.21075	-1.0256	10	0.87932	D	0	.	13.6899	0.62539	0.0:0.7038:0.2962:0.0	.	1115;1118	O14559-10;O14559-11	.;.	F	1279;1118;1115	ENSP00000007510:S1279F;ENSP00000320038:S1118F;ENSP00000368227:S1115F	ENSP00000007510:S1279F	S	+	2	0	ARHGAP33	40971143	0.975000	0.34042	0.398000	0.26321	0.977000	0.68977	2.489000	0.45285	0.451000	0.26802	0.457000	0.33378	TCT	ARHGAP33	-	NULL	ENSG00000004777		0.632	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		-	0	53	0	C	NM_052948		36279303	1	tier1	-	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	42.86	32	24	SNP	0.628	T	T	36279303	C	T	36279303	3	4	74	1	0	0	0	0	1	0	0	0	882	913	32	3	3918	3	ARHGAP33	19	36279303	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	26268	36279303	22849680	176	19826											
ZNF607	84775	genome.wustl.edu	37	chr19	38190339	38190339	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacacactaaaggccttGccacattccttacattcgta	12	11	4	14	1	0	0	0	0	0	0	2	0	1	0	4	1	3	1	4	1	5	7			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:38190339G>T	ENST00000355202.4	-	5	1288	c.693C>A	c.(691-693)ggC>ggA	p.G231G	ZNF607_ENST00000395835.3_Silent_p.G230G|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAAAGGCCTTGCCACATTCCT	0.423																																																	0													82	82	82					19																	38190339		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.693C>A	19.37:g.38190339G>T			F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G231	ENST00000355202.4	37	c.693	CCDS33006.1	19																																																																																			ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.423	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2		0	77	0	G	NM_032689		38190339	-1			no_errors	ENST00000355202	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.783	T	T	38190339	G	T	38190339	2	4	74	1	0	0	0	0	0	0	0	1	18081	1306	46	3		3	ZNF607	19	38190339	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1911036	38190339	20938644	177	19827											
SAMD4B	55095	genome.wustl.edu	37	chr19	39870719	39870719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcagaactaccggcagcaGaaagggtaggcgggtggcca	12	4	16	9	2	0	2	0	0	0	2	0	2	0	2	2	5	4	4	2	5	4	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:39870719G>A	ENST00000314471.6	+	12	2679	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	SAMD4B_ENST00000598913.1_Silent_p.Q548Q|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACCGGCAGCAGAAAGGGTAGG	0.572																																																	0													32	28	30					19																	39870719		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1644G>A	19.37:g.39870719G>A			A5Z0M6|Q6P194	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.Q548	ENST00000314471.6	37	c.1644	CCDS33020.1	19																																																																																			SAMD4B	-	NULL	ENSG00000179134		0.572	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	-	0	90	0	G	NM_018028		39870719	1	tier1	-	no_errors	ENST00000314471	ensembl	human	known	74_37	silent	38.71	38	24	SNP	1.000	A	A	39870719	G	A	39870719	2	1	74	1	0	0	0	0	0	0	0	1	13867	933	33	3		3	SAMD4B	19	39870719	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1680380	39870719	19258264	178	19828											
PSG6	5675	genome.wustl.edu	37	chr19	43411757	43411757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgactgggttactgCggatgccaccatatcggtcc	7	10	13	11	2	1	1	1	1	0	0	3	2	2	2	3	4	3	1	3	4	2	2	rs148457672		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:43411757C>T	ENST00000292125.2	-	4	1000	c.956G>A	c.(955-957)cGc>cAc	p.R319H	PSG6_ENST00000187910.2_Missense_Mutation_p.R319H|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	319	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGGTTACTGCGGATGCCACC	0.507																																																	0								C	HIS/ARG,HIS/ARG	2,4402		0,2,2200	152	136	141		956,956	0.3	0	19	dbSNP_134	141	0,8596		0,0,4298	no	missense,missense	PSG6	NM_001031850.2,NM_002782.3	29,29	0,2,6498	TT,TC,CC		0.0,0.0454,0.0154	,	319/425,319/436	43411757	2,12998	2202	4298	6500	SO:0001583	missense	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.956G>A	19.37:g.43411757C>T	ENSP00000292125:p.Arg319His		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R319H	ENST00000292125.2	37	c.956	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	N	6.644	0.487264	0.12641	4.54E-4	0.0	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12672	2.66;2.66	1.42	0.258	0.15578	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.14399	0.0348	M	0.71920	2.185	0.09310	N	1	B;B	0.18166	0.026;0.009	B;B	0.22386	0.027;0.039	T	0.31364	-0.9946	9	0.42905	T	0.14	.	3.8173	0.08821	0.0:0.737:0.0:0.263	.	319;319	Q00889;Q00889-2	PSG6_HUMAN;.	H	319	ENSP00000187910:R319H;ENSP00000292125:R319H	ENSP00000187910:R319H	R	-	2	0	PSG6	48103597	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.659000	0.05323	-0.031000	0.13781	0.134000	0.15878	CGC	PSG6	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000170848		0.507	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	-	0	289	0	C	NM_002782		43411757	-1	tier1	-	no_errors	ENST00000292125	ensembl	human	known	74_37	missense	31.25	198	90	SNP	0.001	T	T	43411757	C	T	43411757	3	4	74	1	0	0	0	0	1	0	0	0	12701	768	27	1	402	1	PSG6	19	43411757	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	3541038	43411757	15717226	179	19829											
ETFB	2109	genome.wustl.edu	37	chr19	51857574	51857574	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactcggatctgcccagcagGaggggaaggggtggggtcag	8	5	19	9	1	2	0	1	0	1	0	3	3	2	3	1	8	2	1	1	8	1	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:51857574G>A	ENST00000309244.4	-	2	149				CTD-2616J11.11_ENST00000600067.1_Intron|CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000354232.4_Missense_Mutation_p.P107S	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGCCCAGCAGGAGGGGAAGGG	0.627																																																	0													67	60	62					19																	51857574		2203	4300	6503	SO:0001627	intron_variant	0			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-12C>T	19.37:g.51857574G>A			A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Missense_Mutation	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.P107S	ENST00000309244.4	37	c.319	CCDS12828.1	19	.	.	.	.	.	.	.	.	.	.	g	14.18	2.459537	0.43736	.	.	ENSG00000105379	ENST00000354232	D	0.83163	-1.69	5.22	1.77	0.24775	.	1.010870	0.07969	N	0.983616	T	0.68210	0.2976	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.52305	-0.8593	8	.	.	.	.	4.7499	0.13056	0.272:0.16:0.568:0.0	.	107	P38117-2	.	S	107	ENSP00000346173:P107S	.	P	-	1	0	ETFB	56549386	0.001000	0.12720	0.001000	0.08648	0.331000	0.28603	0.186000	0.16978	0.551000	0.29008	0.651000	0.88453	CCT	ETFB	-	NULL	ENSG00000105379		0.627	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	-	0	45	0	G			51857574	-1	tier1	-	no_errors	ENST00000354232	ensembl	human	known	74_37	missense	27.08	35	13	SNP	0.000	A	A	51857574	G	A	51857574	1	1	74	0	1	0	0	0	0	0	0	0	5286	1174	41	3		3	ETFB	19	51857574	Intron	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	8445817	51857574	7271409	180	19830											
ZNF480	147657	genome.wustl.edu	37	chr19	52825738	52825738	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagtatttaatcaactttCaaatcttgcacgacatcgaa	17	12	4	8	2	3	0	2	0	1	0	4	2	3	0	0	0	2	2	0	0	7	5			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:52825738C>G	ENST00000595962.1	+	5	1301	c.1235C>G	c.(1234-1236)tCa>tGa	p.S412*	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Nonsense_Mutation_p.S335*|ZNF480_ENST00000334564.7_Nonsense_Mutation_p.S369*	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATCAACTTTCAAATCTTGCA	0.358																																																	0													76	81	79					19																	52825738		2203	4300	6503	SO:0001587	stop_gained	0			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"Zinc fingers, C2H2-type", "-"	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1235C>G	19.37:g.52825738C>G	ENSP00000471754:p.Ser412*		Q5JPG9|Q6P0Q4|Q8N1M5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S412*	ENST00000595962.1	37	c.1235	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545806	0.45280	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	.	.	.	2.21	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.5947	0.17321	0.2255:0.5539:0.2206:0.0	.	.	.	.	X	412;369;335	.	ENSP00000334164:S369X	S	+	2	0	ZNF480	57517550	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-1.945000	0.01537	0.229000	0.21039	0.461000	0.40582	TCA	ZNF480	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198464		0.358	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	-	0	74	0	C	NM_144684		52825738	1	tier1	-	no_errors	ENST00000468240	ensembl	human	known	74_37	nonsense	31.43	48	22	SNP	0.074	G	G	52825738	C	G	52825738	4	3	74	1	0	0	0	0	0	1	0	0	17983	838	29	5	1249	5	ZNF480	19	52825738	Nonsense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	968164	52825738	6303245	181	19831											
TNNI3	7137	genome.wustl.edu	37	chr19	55668465	55668465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtagttggaggagcggcGtctgattggggctggtgcag	5	9	21	6	3	1	1	0	1	1	0	1	3	1	3	0	7	2	4	0	7	1	3	rs267607128		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:55668465G>A	ENST00000344887.5	-	3	203	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	TNNI3_ENST00000588882.1_5'Flank|TNNI3_ENST00000590463.1_5'UTR|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000587789.2_5'Flank|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	21					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGGAGCGGCGTCTGATTGGG	0.667																																																	0			GRCh37	CM034574	TNNI3	M							45	53	50					19																	55668465		2007	4155	6162	SO:0001583	missense	0			M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"troponin I, cardiac", "cardiomyopathy, dilated 2A (autosomal recessive)"	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.61C>T	19.37:g.55668465G>A	ENSP00000341838:p.Arg21Cys			Missense_Mutation	SNP	pfam_Troponin,pfam_Troponin-I_N	p.R21C	ENST00000344887.5	37	c.61	CCDS42628.1	19	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024448	0.54683	.	.	ENSG00000129991	ENST00000344887	D	0.95103	-3.61	4.01	4.01	0.46588	.	0.000000	0.53938	D	0.000051	D	0.94857	0.8338	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.66084	0.941	D	0.95675	0.8727	10	0.87932	D	0	-22.277	15.7666	0.78131	0.0:0.0:1.0:0.0	.	21	P19429	TNNI3_HUMAN	C	21	ENSP00000341838:R21C	ENSP00000341838:R21C	R	-	1	0	TNNI3	60360277	0.967000	0.33354	0.974000	0.42286	0.754000	0.42855	2.079000	0.41577	2.178000	0.69098	0.462000	0.41574	CGC	TNNI3	-	pfam_Troponin-I_N	ENSG00000129991		0.667	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNI3	HGNC	protein_coding	OTTHUMT00000452098.1	-	0	119	0	G			55668465	-1	tier1	-	no_errors	ENST00000344887	ensembl	human	known	74_37	missense	35.71	81	45	SNP	0.998	A	A	55668465	G	A	55668465	3	1	74	1	0	0	0	0	1	0	0	0	16375	1145	40	1	595	1	TNNI3	19	55668465	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	2842727	55668465	3460518	182	19832											
CCDC106	29903	genome.wustl.edu	37	chr19	56162854	56162854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcccaaggcccgggagagGcagcgaggtgagtggggtgc	9	3	20	9	2	0	2	0	1	0	1	0	4	0	2	2	6	3	1	2	6	2	0	rs148442107	byFrequency	TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:56162854G>T	ENST00000586790.1	+	4	1423	c.519G>T	c.(517-519)agG>agT	p.R173S	CCDC106_ENST00000308964.3_Missense_Mutation_p.R173S|CCDC106_ENST00000591241.1_Missense_Mutation_p.R138S|CCDC106_ENST00000588740.1_Missense_Mutation_p.R173S|U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000591578.1_Missense_Mutation_p.R173S			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	173						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCCGGGAGAGGCAGCGAGGTG	0.672																																																	0													23	19	20					19																	56162854		2180	4287	6467	SO:0001583	missense	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.519G>T	19.37:g.56162854G>T	ENSP00000465757:p.Arg173Ser		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.R173S	ENST00000586790.1	37	c.519	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340143	0.60963	.	.	ENSG00000173581	ENST00000308964	.	.	.	4.3	0.66	0.17868	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	L	0.40543	1.245	0.51767	D	0.999936	D	0.76494	0.999	D	0.80764	0.994	T	0.54214	-0.8327	9	0.59425	D	0.04	3.4814	6.5376	0.22363	0.176:0.1483:0.6757:0.0	.	173	Q9BWC9	CC106_HUMAN	S	173	.	ENSP00000309681:R173S	R	+	3	2	CCDC106	60854666	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.340000	0.19892	0.395000	0.25257	-0.150000	0.13652	AGG	CCDC106	-	NULL	ENSG00000173581		0.672	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	-	0	30	0	G	NM_013301		56162854	1	tier1	-	no_errors	ENST00000308964	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	T	T	56162854	G	T	56162854	3	4	74	1	0	0	0	0	1	0	0	0	2748	1194	42	3	533	3	CCDC106	19	56162854	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	494389	56162854	2966129	183	19833											
NLRP4	147945	genome.wustl.edu	37	chr19	56369442	56369442	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccggagagactcttgtTcgtcatcgacagcttcgaag	10	10	10	11	4	3	1	2	0	1	1	6	5	3	2	1	1	2	2	1	1	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr19:56369442T>G	ENST00000301295.6	+	3	1105	c.683T>G	c.(682-684)tTc>tGc	p.F228C	NLRP4_ENST00000346986.5_Missense_Mutation_p.F228C|NLRP4_ENST00000587891.1_Missense_Mutation_p.F153C	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	228	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGACTCTTGTTCGTCATCGAC	0.557																																																	0													80	80	80					19																	56369442		2203	4300	6503	SO:0001583	missense	0			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22943	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4", "cancer/testis antigen 58"	609645	"NACHT, leucine rich repeat and PYD containing 4"	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.683T>G	19.37:g.56369442T>G	ENSP00000301295:p.Phe228Cys		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F228C	ENST00000301295.6	37	c.683	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	T	14.21	2.468012	0.43839	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.81821	-1.54;-1.54	4.1	4.1	0.47936	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.90356	0.6982	M	0.89534	3.04	0.37705	D	0.92434	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.92983	0.6408	9	0.87932	D	0	.	11.3715	0.49702	0.0:0.0:0.0:1.0	.	228;153;228	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	C	228	ENSP00000301295:F228C;ENSP00000344787:F228C	ENSP00000301295:F228C	F	+	2	0	NLRP4	61061254	1.000000	0.71417	0.187000	0.23214	0.150000	0.21749	5.690000	0.68241	1.847000	0.53656	0.533000	0.62120	TTC	NLRP4	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000160505		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	0	68	0	T	NM_134444		56369442	1	tier1	-	no_errors	ENST00000301295	ensembl	human	known	74_37	missense	32.86	47	23	SNP	0.897	G	G	56369442	T	G	56369442	3	3	74	1	0	0	0	0	1	0	0	0	10518	1783	62	4	689	4	NLRP4	19	56369442	Missense_Mutation	SNP	T	TCGA-L5-A88W-01A-11D-A351-09	206588	56369442	2759541	184	19834											
PLCB1	23236	genome.wustl.edu	37	chr20	8707959	8707959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgttgcttaactcagaaaGaaataaaagttttgaaatgt	16	14	8	3	0	1	3	1	1	0	2	1	3	1	3	0	0	2	4	0	0	6	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:8707959G>C	ENST00000338037.6	+	17	1709	c.1682G>C	c.(1681-1683)aGa>aCa	p.R561T	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378641.3_Missense_Mutation_p.R561T|PLCB1_ENST00000378637.2_Missense_Mutation_p.R561T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	561	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACTCAGAAAGAAATAAAAGT	0.318																																																	0													49	50	50					20																	8707959		2203	4299	6502	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1682G>C	20.37:g.8707959G>C	ENSP00000338185:p.Arg561Thr		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R561T	ENST00000338037.6	37	c.1682	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366783	0.61513	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.66460	-0.21;-0.21;-0.21	5.86	5.86	0.93980	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.781535	0.12469	N	0.466208	T	0.70176	0.3194	L	0.27053	0.805	0.58432	D	0.999998	B;P	0.40970	0.005;0.734	B;P	0.50314	0.041;0.637	T	0.67906	-0.5549	10	0.49607	T	0.09	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	561;561	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	T	561;561;561;481;481	ENSP00000367908:R561T;ENSP00000338185:R561T;ENSP00000367904:R561T	ENSP00000338185:R561T	R	+	2	0	PLCB1	8655959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.941000	0.49011	2.937000	0.99478	0.650000	0.86243	AGA	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y	ENSG00000182621		0.318	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0	35	0	G			8707959	1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	C	C	8707959	G	C	8707959	3	2	74	1	0	0	0	0	1	0	0	0	12066	942	33	5	1748	5	PLCB1	20	8707959	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		8707959	54317561	185	19835											
SLC9A8	23315	genome.wustl.edu	37	chr20	48471998	48471998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtttggctccctaatatCtgctgtcgatccagtggcca	6	13	10	12	2	1	0	0	0	1	0	4	1	3	0	3	2	2	3	3	2	2	3			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:48471998C>A	ENST00000361573.2	+	8	635	c.593C>A	c.(592-594)tCt>tAt	p.S198Y	SLC9A8_ENST00000417961.1_Missense_Mutation_p.S214Y|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_5'UTR			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	198					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TCCCTAATATCTGCTGTCGAT	0.448																																																	0													208	191	197					20																	48471998		2203	4300	6503	SO:0001583	missense	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"Solute carriers"	20728	protein-coding gene	gene with protein product		612730	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 8", "solute carrier family 9 (sodium/hydrogen exchanger), member 8"			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.593C>A	20.37:g.48471998C>A	ENSP00000354966:p.Ser198Tyr		B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S214Y	ENST00000361573.2	37	c.641	CCDS13421.1	20	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692943	0.68271	.	.	ENSG00000197818	ENST00000417961;ENST00000361573	T;T	0.25085	1.82;1.82	5.24	5.24	0.73138	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82065	-0.0642	10	0.87932	D	0	.	19.2019	0.93714	0.0:1.0:0.0:0.0	.	198	Q9Y2E8	SL9A8_HUMAN	Y	214;198	ENSP00000416418:S214Y;ENSP00000354966:S198Y	ENSP00000354966:S198Y	S	+	2	0	SLC9A8	47905405	1.000000	0.71417	0.949000	0.38748	0.129000	0.20672	7.652000	0.83633	2.598000	0.87819	0.650000	0.86243	TCT	SLC9A8	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.448	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3	-	0	115	0	C	XM_030524		48471998	1	tier1	-	no_errors	ENST00000417961	ensembl	human	known	74_37	missense	34.00	66	34	SNP	1.000	A	A	48471998	C	A	48471998	3	1	74	1	0	0	0	0	1	0	0	0	14765	913	32	3	623	3	SLC9A8	20	48471998	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	39764039	48471998	14553522	186	19836											
GNAS	2778	genome.wustl.edu	37	chr20	57484420	57484420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggacctgcttcgctgcCgtgtcctgacttctggaatc	5	13	10	13	2	2	1	1	1	1	0	5	3	3	3	3	2	2	2	3	2	1	3	rs11554273		TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:57484420C>T	ENST00000371085.3	+	8	1025	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	GNAS_ENST00000371102.4_Missense_Mutation_p.R830C|GNAS_ENST00000371100.4_Missense_Mutation_p.R844C|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.R186C|GNAS_ENST00000371095.3_Missense_Mutation_p.R187C|GNAS_ENST00000306090.10_Missense_Mutation_p.R187C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R202C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	201			R -> C (in MAS and somatotrophinoma; dbSNP:rs11554273). {ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> G (in MAS). {ECO:0000269|PubMed:10571700}.|R -> H (in MAS, somatotrophinoma and AIMAH1). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:1594625, ECO:0000269|PubMed:1944469, ECO:0000269|PubMed:2549426}.|R -> L (in non-MAS endocrine tumors). {ECO:0000269|PubMed:7751320}.|R -> S (in AIMAH1, pituitary tumor and polyostotic fibrous dysplasia). {ECO:0000269|PubMed:12727968, ECO:0000269|PubMed:8766942, ECO:0000269|PubMed:9267696}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R201C(228)|p.R844C(9)|p.R201S(5)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTTCGCTGCCGTGTCCTGAC	0.428			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	242	Substitution - Missense(242)	pituitary(141)|pancreas(35)|large_intestine(14)|ovary(12)|thyroid(10)|adrenal_gland(7)|biliary_tract(6)|parathyroid(5)|liver(3)|kidney(3)|testis(2)|upper_aerodigestive_tract(2)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)											80	78	79					20																	57484420		2203	4300	6503	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.601C>T	20.37:g.57484420C>T	ENSP00000360126:p.Arg201Cys		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R202C	ENST00000371085.3	37	c.604	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215896	0.79352	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-2.99;-5.95	5.53	4.53	0.55603	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.99775	0.9907	H	0.99732	4.735	0.80722	D	1	D;D;D;D	0.89917	0.999;0.983;0.979;1.0	D;P;P;D	0.97110	0.939;0.845;0.643;1.0	D	0.96814	0.9599	10	0.87932	D	0	.	13.0593	0.58997	0.2437:0.7563:0.0:0.0	rs11554273	201;202;186;844	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	C	844;830;187;201;202;186;187	ENSP00000360141:R844C;ENSP00000360143:R830C;ENSP00000360136:R187C;ENSP00000360126:R201C;ENSP00000346328:R202C;ENSP00000265620:R186C;ENSP00000304472:R187C	ENSP00000265620:R186C	R	+	1	0	GNAS	56917815	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.055000	0.57441	2.596000	0.87737	0.563000	0.77884	CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000087460		0.428	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	-	0	98	0	C	NM_000516		57484420	1	tier1	rs11554273	no_errors	ENST00000354359	ensembl	human	known	74_37	missense	26.80	71	26	SNP	1.000	T	T	57484420	C	T	57484420	3	4	74	1	0	0	0	0	1	0	0	0	6536	652	23	1	3448	1	GNAS	20	57484420	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	9012422	57484420	5541100	187	19837											
SYCP2	10388	genome.wustl.edu	37	chr20	58441562	58441562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagacctagagtcctgaCtttgatgattcattgttctc	9	16	7	9	0	2	5	1	3	1	2	4	5	3	5	2	0	1	1	2	0	2	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:58441562C>T	ENST00000357552.3	-	40	4433	c.4208G>A	c.(4207-4209)aGt>aAt	p.S1403N	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1403N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1403					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AGAGTCCTGACTTTGATGATT	0.308																																																	0													82	85	84					20																	58441562		2203	4297	6500	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.4208G>A	20.37:g.58441562C>T	ENSP00000350162:p.Ser1403Asn		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.S1403N	ENST00000357552.3	37	c.4208	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	8.286	0.816637	0.16607	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000412613	T;T	0.14022	2.54;2.54	5.3	3.0	0.34707	.	0.493168	0.20275	N	0.095593	T	0.07593	0.0191	N	0.14661	0.345	0.09310	N	1	B	0.25169	0.119	B	0.26416	0.069	T	0.29150	-1.0021	10	0.59425	D	0.04	-1.8232	4.9657	0.14089	0.6447:0.187:0.1683:0.0	.	1403	Q9BX26	SYCP2_HUMAN	N	1403;1403;89	ENSP00000360040:S1403N;ENSP00000350162:S1403N	ENSP00000350162:S1403N	S	-	2	0	SYCP2	57874957	0.951000	0.32395	0.428000	0.26697	0.344000	0.29017	2.593000	0.46180	0.398000	0.25338	-0.319000	0.08680	AGT	SYCP2	-	NULL	ENSG00000196074		0.308	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	-	0	101	0	C	NM_014258		58441562	-1	tier1	-	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	39.06	78	50	SNP	0.456	T	T	58441562	C	T	58441562	3	4	74	1	0	0	0	0	1	0	0	0	15479	565	20	3	408	3	SYCP2	20	58441562	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	957142	58441562	4583958	188	19838											
LAMA5	3911	genome.wustl.edu	37	chr20	60886979	60886979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggccaggctcaccccGtggcattgctgtagaaggcg	7	6	14	14	3	1	1	1	0	0	1	1	1	1	1	4	4	2	4	4	4	2	2			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:60886979G>A	ENST00000252999.3	-	70	9698	c.9632C>T	c.(9631-9633)aCg>aTg	p.T3211M	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3211	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCTCACCCCGTGGCATTGCT	0.647																																																	0													57	63	61					20																	60886979		2203	4299	6502	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9632C>T	20.37:g.60886979G>A	ENSP00000252999:p.Thr3211Met		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.T3211M	ENST00000252999.3	37	c.9632	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	g	16.18	3.051403	0.55218	.	.	ENSG00000130702	ENST00000252999	T	0.44482	0.92	4.73	3.71	0.42584	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.375975	0.28653	N	0.014593	T	0.45617	0.1351	M	0.63843	1.955	0.09310	N	0.999997	D	0.57257	0.979	P	0.49597	0.616	T	0.40739	-0.9547	10	0.59425	D	0.04	.	8.6328	0.33930	0.0:0.1388:0.5971:0.2641	.	3211	O15230	LAMA5_HUMAN	M	3211	ENSP00000252999:T3211M	ENSP00000252999:T3211M	T	-	2	0	LAMA5	60320374	0.000000	0.05858	0.018000	0.16275	0.620000	0.37586	0.456000	0.21859	2.177000	0.69029	0.556000	0.70494	ACG	LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000130702		0.647	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	208	0	G	NM_005560		60886979	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	36.65	117	70	SNP	0.002	A	A	60886979	G	A	60886979	3	1	74	1	0	0	0	0	1	0	0	0	8637	1145	40	1	1499	1	LAMA5	20	60886979	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	2445417	60886979	2138541	189	19839											
MYT1	4661	genome.wustl.edu	37	chr20	62844938	62844938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattagccaaatcccatgaGaagcagcagccgcagacagg	16	4	10	11	1	0	2	0	1	0	2	1	3	1	2	3	1	4	3	3	1	4	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr20:62844938G>A	ENST00000328439.1	+	10	1933	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	MYT1_ENST00000360149.4_Silent_p.E225E|MYT1_ENST00000536311.1_Silent_p.E523E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AATCCCATGAGAAGCAGCAGC	0.542																																					GBM(59;481 1041 20555 21139 33705)												0													84	89	88					20																	62844938		2203	4300	6503	SO:0001819	synonymous_variant	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1569G>A	20.37:g.62844938G>A			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.E523	ENST00000328439.1	37	c.1569	CCDS13558.1	20																																																																																			MYT1	-	NULL	ENSG00000196132		0.542	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	-	0	65	0	G	NM_004535		62844938	1	tier1	-	no_errors	ENST00000536311	ensembl	human	known	74_37	silent	25.00	36	12	SNP	1.000	A	A	62844938	G	A	62844938	2	1	74	1	0	0	0	0	0	0	0	1	10144	933	33	3		3	MYT1	20	62844938	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	1957959	62844938	180582	190	19840											
DYRK1A	1859	genome.wustl.edu	37	chr21	38865336	38865336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatataccagtatattcaGagtcgcttttatcggtctcc	10	14	7	10	2	2	2	1	0	1	2	5	2	2	2	2	1	1	2	2	1	5	7			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr21:38865336G>C	ENST00000398960.2	+	7	1044	c.969G>C	c.(967-969)caG>caC	p.Q323H	DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q95H|DYRK1A_ENST00000339659.4_Missense_Mutation_p.Q314H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.Q323H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.Q323H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.Q323H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.Q323H	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTATATTCAGAGTCGCTTTT	0.368																																					Melanoma(114;464 1602 31203 43785 45765)												0													115	111	112					21																	38865336		2203	4300	6503	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.969G>C	21.37:g.38865336G>C	ENSP00000381932:p.Gln323His		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q323H	ENST00000398960.2	37	c.969	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497952	0.85069	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58836	0.2150	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;1.0	T	0.70163	-0.4947	10	0.87932	D	0	.	14.1252	0.65215	0.072:0.0:0.928:0.0	.	323;323;323;314;323	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	H	323;314;323;323;323;323;95	ENSP00000342690:Q323H;ENSP00000340373:Q314H;ENSP00000319032:Q323H;ENSP00000416089:Q323H;ENSP00000381932:Q323H;ENSP00000381929:Q323H;ENSP00000407854:Q95H	ENSP00000319032:Q323H	Q	+	3	2	DYRK1A	37787206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.104000	0.57790	2.775000	0.95449	0.650000	0.86243	CAG	DYRK1A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000157540		0.368	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1	-	0	75	0	G	NM_001396		38865336	1	tier1	-	no_errors	ENST00000398960	ensembl	human	known	74_37	missense	34.94	54	29	SNP	1.000	C	C	38865336	G	C	38865336	3	2	74	1	0	0	0	0	1	0	0	0	4868	933	33	5	995	5	DYRK1A	21	38865336	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		38865336	9264559	191	19841											
DSCAM	1826	genome.wustl.edu	37	chr21	41424027	41424027	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcaacagaaccgtggaGcgatcatctacaggatggca	12	7	11	11	3	3	1	2	0	1	1	4	4	4	3	2	3	4	1	2	3	3	1			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr21:41424027G>T	ENST00000400454.1	-	30	5520	c.5043C>A	c.(5041-5043)cgC>cgA	p.R1681R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1681					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAACCGTGGAGCGATCATCTA	0.522																																					Melanoma(134;970 1778 1785 21664 32388)												0													81	81	81					21																	41424027		2037	4197	6234	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5043C>A	21.37:g.41424027G>T			O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1681	ENST00000400454.1	37	c.5043	CCDS42929.1	21																																																																																			DSCAM	-	NULL	ENSG00000171587		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0	82	0	G	NM_001389		41424027	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	29.87	54	23	SNP	1.000	T	T	41424027	G	T	41424027	2	4	74	1	0	0	0	0	0	0	0	1	4782	958	34	3		3	DSCAM	21	41424027	Silent	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	2558691	41424027	6705868	192	19842											
SLC16A8	23539	genome.wustl.edu	37	chr22	38478026	38478026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagcgggtcacgaggatGctggacacggggcctgtggg	8	5	18	10	3	1	0	1	0	0	0	1	3	1	2	2	6	2	1	2	6	1	0			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr22:38478026G>T	ENST00000320521.5	-	3	336	c.228C>A	c.(226-228)agC>agA	p.S76R	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	76					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	TCACGAGGATGCTGGACACGG	0.662																																																	0													18	21	20					22																	38478026		2185	4285	6470	SO:0001583	missense	0			AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"Solute carriers"	16270	protein-coding gene	gene with protein product	"monocarboxylate transporter 3"	610409	"solute carrier 16 (monocarboxylic acid transporters), member 8"			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.228C>A	22.37:g.38478026G>T	ENSP00000321735:p.Ser76Arg		Q9UBE2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S76R	ENST00000320521.5	37	c.228	CCDS13966.1	22	.	.	.	.	.	.	.	.	.	.	G	20.5	4.009357	0.75046	.	.	ENSG00000100156	ENST00000320521;ENST00000427592	T;T	0.59502	0.31;0.26	4.02	2.97	0.34412	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.79936	0.4532	H	0.94698	3.57	0.50039	D	0.999844	D	0.89917	1.0	D	0.87578	0.998	D	0.84089	0.0389	10	0.87932	D	0	.	10.4576	0.44559	0.1656:0.0:0.8344:0.0	.	76	O95907	MOT3_HUMAN	R	76	ENSP00000321735:S76R;ENSP00000409547:S76R	ENSP00000321735:S76R	S	-	3	2	SLC16A8	36807972	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.206000	0.42779	1.969000	0.57287	0.313000	0.20887	AGC	SLC16A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	ENSG00000100156		0.662	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A8	HGNC	protein_coding	OTTHUMT00000321724.1	-	0	111	0	G	NM_013356		38478026	-1	tier1	-	no_errors	ENST00000320521	ensembl	human	known	74_37	missense	37.39	72	43	SNP	1.000	T	T	38478026	G	T	38478026	3	4	74	1	0	0	0	0	1	0	0	0	14459	1310	46	3	1298	3	SLC16A8	22	38478026	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09		38478026	12826540	193	19843											
RPL3	6122	genome.wustl.edu	37	chr22	39710147	39710147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtcagataggtcatagtCagtggaggcattgttcttga	9	14	12	6	0	4	2	3	1	1	1	4	3	4	3	0	3	0	2	0	3	2	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chr22:39710147C>T	ENST00000216146.4	-	7	1089	c.916G>A	c.(916-918)Gac>Aac	p.D306N	SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.D254N|RPL3_ENST00000465618.1_5'UTR|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	306					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	AGGTCATAGTCAGTGGAGGCA	0.498											OREG0026574	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													155	133	140					22																	39710147		2203	4300	6503	SO:0001583	missense	0			AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"L ribosomal proteins"	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.916G>A	22.37:g.39710147C>T	ENSP00000346001:p.Asp306Asn	887	B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	p.D306N	ENST00000216146.4	37	c.916	CCDS13988.1	22	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537561	0.65085	.	.	ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527	T;T;T	0.31769	1.48;1.48;1.5	5.35	5.35	0.76521	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.045974	0.85682	D	0.000000	T	0.29817	0.0745	L	0.38733	1.17	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.15870	0.007;0.004;0.004;0.014	T	0.04017	-1.0984	10	0.51188	T	0.08	.	19.0675	0.93117	0.0:1.0:0.0:0.0	.	277;254;306;257	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	N	254;306;254	ENSP00000386101:D254N;ENSP00000346001:D306N;ENSP00000385762:D254N	ENSP00000346001:D306N	D	-	1	0	RPL3	38040093	0.998000	0.40836	0.969000	0.41365	0.824000	0.46624	3.926000	0.56491	2.513000	0.84729	0.561000	0.74099	GAC	RPL3	-	pfam_Ribosomal_L3,superfamily_Transl_B-barrel	ENSG00000100316		0.498	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL3	HGNC	protein_coding	OTTHUMT00000321196.1	-	0	50	0	C	NM_000967		39710147	-1	tier1	-	no_errors	ENST00000216146	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.998	T	T	39710147	C	T	39710147	3	4	74	1	0	0	0	0	1	0	0	0	13624	826	29	3	311	3	RPL3	22	39710147	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	1232121	39710147	11594419	194	19844											
MBTPS2	51360	genome.wustl.edu	37	chrX	21896680	21896681	+	Frame_Shift_Ins	INS	-	-	A																															gcagaaccaataaagactgtINSaaaaaaagctcaagttcaag																										TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrX:21896680_21896681insA	ENST00000379484.5	+	9	1230_1231	c.1131_1132insA	c.(1132-1134)aaafs	p.K378fs		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	378	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S380fs*28(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						ATAAAGACTGTAAAAAAAGCTC	0.327																																																	1	Insertion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"membrane-bound transcription factor protease, site 2", "keratosis follicularis spinulosa decalvans"	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1138dupA	X.37:g.21896687_21896687dupA	ENSP00000368798:p.Lys378fs		Q9UM70|Q9UMD3	Frame_Shift_Ins	INS	pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2	p.S379fs	ENST00000379484.5	37	c.1131_1132	CCDS14201.1	X																																																																																			MBTPS2	-	pfam_Peptidase_M50	ENSG00000012174		0.327	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1		0	56	0	-			21896681	1	tier1		no_errors	ENST00000379484	ensembl	human	known	74_37	frame_shift_ins	57.69	22	30	INS	1.000:0.994	A	A	21896681	-	A	21896680	7	5	74	1	0	1	1	0	0	0	0	0	9400	1644	57	0	1165	0	MBTPS2	23	21896680	Frame_Shift_Ins	INS	-	TCGA-L5-A88W-01A-11D-A351-09		21896680	133373880	195	19845											
MTMR8	55613	genome.wustl.edu	37	chrX	63569873	63569873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacacgttctttacttctGaactttgaacttccaaccac	10	13	6	12	1	2	2	0	2	2	0	3	3	3	3	2	1	4	1	2	1	4	6			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrX:63569873G>T	ENST00000374852.3	-	5	613	c.546C>A	c.(544-546)ttC>ttA	p.F182L	MTMR8_ENST00000453546.1_Missense_Mutation_p.F182L	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	182	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTTTACTTCTGAACTTTGAAC	0.388																																																	1	Whole gene deletion(1)	ovary(1)											136	111	120					X																	63569873		2203	4300	6503	SO:0001583	missense	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.546C>A	X.37:g.63569873G>T	ENSP00000363985:p.Phe182Leu		Q5JT99|Q9NXP6	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.F182L	ENST00000374852.3	37	c.546	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103850	0.37145	.	.	ENSG00000102043	ENST00000453546;ENST00000374852	D;D	0.93811	-3.29;-3.29	2.81	1.92	0.25849	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.48286	U	0.000189	D	0.97654	0.9231	H	0.98901	4.365	0.50813	D	0.999899	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	D	0.95862	0.8884	10	0.87932	D	0	.	8.1705	0.31252	0.1335:0.0:0.8665:0.0	.	182;182	B4DQL0;Q96EF0	.;MTMR8_HUMAN	L	182	ENSP00000394003:F182L;ENSP00000363985:F182L	ENSP00000363985:F182L	F	-	3	2	MTMR8	63486598	1.000000	0.71417	0.743000	0.31040	0.852000	0.48524	3.588000	0.53964	0.369000	0.24510	0.513000	0.50165	TTC	MTMR8	-	pfam_Myotubularin-like_Pase_dom	ENSG00000102043		0.388	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	HGNC	protein_coding	OTTHUMT00000056949.2	-	0	79	0	G	NM_017677		63569873	-1	tier1	-	no_errors	ENST00000374852	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	63569873	G	T	63569873	3	4	74	1	0	0	0	0	1	0	0	0	9987	1281	45	3	1608	3	MTMR8	23	63569873	Missense_Mutation	SNP	G	TCGA-L5-A88W-01A-11D-A351-09	41673193	63569873	91700687	196	19846											
NRK	203447	genome.wustl.edu	37	chrX	105183880	105183880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaggtcataagaacagaCttcgggtgtatcatctgacc	12	11	9	9	1	4	3	3	1	1	2	5	3	4	3	1	2	1	1	1	2	4	4			TCGA-L5-A88W-01A-11D-A351-09	TCGA-L5-A88W-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d3c1f23e-b6f3-471f-9804-fe2539e311cd	77c96d3d-2e13-42c2-8ed4-d1708d5aca1d	g.chrX:105183880C>G	ENST00000243300.9	+	23	4117	c.3814C>G	c.(3814-3816)Ctt>Gtt	p.L1272V	NRK_ENST00000428173.2_Missense_Mutation_p.L1273V	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1272	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAAGAACAGACTTCGGGTGTA	0.323										HNSCC(51;0.14)																																							0													43	37	39					X																	105183880		1805	4059	5864	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3814C>G	X.37:g.105183880C>G	ENSP00000434830:p.Leu1272Val		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.L1273V	ENST00000243300.9	37	c.3817		X	.	.	.	.	.	.	.	.	.	.	C	16.37	3.104065	0.56291	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.14391	2.51;2.51	5.78	4.92	0.64577	Citron-like (2);	0.000000	0.42053	D	0.000775	T	0.22244	0.0536	L	0.31752	0.955	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.958;0.998	T	0.00901	-1.1521	10	0.40728	T	0.16	.	9.1213	0.36788	0.0:0.8396:0.0:0.1604	.	940;1272	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	V	1272;1273	ENSP00000434830:L1272V;ENSP00000438378:L1273V	ENSP00000434830:L1272V	L	+	1	0	NRK	105070536	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.882000	0.48546	2.433000	0.82419	0.544000	0.68410	CTT	NRK	-	pfam_Citron,smart_Citron	ENSG00000123572		0.323	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	-	0	32	0	C	NM_198465		105183880	1	tier1	-	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	G	G	105183880	C	G	105183880	3	3	74	1	0	0	0	0	1	0	0	0	10694	565	20	5	3904	5	NRK	23	105183880	Missense_Mutation	SNP	C	TCGA-L5-A88W-01A-11D-A351-09	41614007	105183880	50086680	197	19847											
SLC22A20	823	genome.wustl.edu	37	chr11	64981480	64981480	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacttcacggccgctgTccccccccaccactgccggg	6	5	10	20	3	1	1	1	0	0	1	2	1	2	1	7	2	2	2	7	2	1	1			TCGA-L5-A88Y-01A-11D-A351-09	TCGA-L5-A88Y-11A-11D-A351-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a7f776b7-6084-4cc7-9f51-d142e12da180	90570d8c-57d8-430a-bf1e-38b4365fc803	g.chr11:64981480T>C	ENST00000527323.1	+	0	3086				SLC22A20_ENST00000525437.1_RNA			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ACGGCCGCTGTCCCCCCCCAC	0.692																																																	0													10	15	13					11																	64981480		1933	4118	6051	SO:0001628	intergenic_variant	0			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"EF-hand domain containing"	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614		11.37:g.64981480T>C			Q2TTR0|Q6DHV4	RNA	SNP	-	NULL	ENST00000527323.1	37	NULL	CCDS44644.1	11																																																																																			SLC22A20	-	-	ENSG00000197847		0.692	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A20	HGNC	protein_coding	OTTHUMT00000385325.1		0	12	0	T			64981480	1			no_errors	ENST00000525264	ensembl	human	known	74_37	rna	6.41	72	5	SNP	0.964	C	C	64981480	T	C	64981480	1	2	75	0	1	0	0	0	0	0	0	0	14496	1667	58	4		4	SLC22A20	11	64981480	IGR	SNP	T	TCGA-L5-A88Y-01A-11D-A351-09		64981480	70025036	1	19848											
SOX9	6662	genome.wustl.edu	37	chr17	70118950	70118950	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccacccggattacaagtaCcagccgcggcggaggaagtc	11	4	13	13	4	0	0	0	0	0	0	1	4	0	3	4	4	3	1	4	4	4	2	rs373719106		TCGA-L5-A88Y-01A-11D-A351-09	TCGA-L5-A88Y-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a7f776b7-6084-4cc7-9f51-d142e12da180	90570d8c-57d8-430a-bf1e-38b4365fc803	g.chr17:70118950C>A	ENST00000245479.2	+	2	894	c.522C>A	c.(520-522)taC>taA	p.Y174*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	174					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ATTACAAGTACCAGCCGCGGC	0.657																																					Pancreas(42;83 1041 2320 35205 39456)												0													58	61	60					17																	70118950		2203	4300	6503	SO:0001587	stop_gained	0			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"SRY (sex determining region Y)-boxes"	11204	protein-coding gene	gene with protein product		608160	"campomelic dysplasia, autosomal sex-reversal"	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.522C>A	17.37:g.70118950C>A	ENSP00000245479:p.Tyr174*		Q53Y80	Nonsense_Mutation	SNP	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Y174*	ENST00000245479.2	37	c.522	CCDS11689.1	17	.	.	.	.	.	.	.	.	.	.	C	41	9.068840	0.99055	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6481	0.88154	0.0:1.0:0.0:0.0	.	.	.	.	X	174	.	ENSP00000245479:Y174X	Y	+	3	2	SOX9	67630545	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.787000	0.62432	2.161000	0.67846	0.561000	0.74099	TAC	SOX9	-	superfamily_HMG_box_dom,smart_HMG_box_dom	ENSG00000125398		0.657	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX9	HGNC	protein_coding	OTTHUMT00000389032.1	-	0	8	0	C	NM_000346		70118950	1	tier1	-	no_errors	ENST00000245479	ensembl	human	known	74_37	nonsense	16.39	102	20	SNP	1.000	A	A	70118950	C	A	70118950	4	1	75	1	0	0	0	0	0	1	0	0	15003	518	18	3	528	3	SOX9	17	70118950	Nonsense_Mutation	SNP	C	TCGA-L5-A88Y-01A-11D-A351-09		70118950	11076260	2	19849											
FUT5	2527	genome.wustl.edu	37	chr19	5867696	5867696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccggccagacagcggCgccacagccactgtggcttg	7	4	14	16	3	0	1	0	0	0	1	0	1	0	1	4	3	3	2	4	3	0	1			TCGA-L5-A88Y-01A-11D-A351-09	TCGA-L5-A88Y-11A-11D-A351-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a7f776b7-6084-4cc7-9f51-d142e12da180	90570d8c-57d8-430a-bf1e-38b4365fc803	g.chr19:5867696C>T	ENST00000586349.1	-	4	435	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	FUT5_ENST00000588525.1_Missense_Mutation_p.R14H|FUT5_ENST00000252675.5_Missense_Mutation_p.R14H																							CAGACAGCGGCGCCACAGCCA	0.607																																																	0													23	26	25					19																	5867696		2139	4167	6306	SO:0001583	missense	0																														ENST00000586349.1:c.436G>A	19.37:g.5867696C>T	ENSP00000466639:p.Ala146Thr			Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R14H	ENST00000586349.1	37	c.41		19	.	.	.	.	.	.	.	.	.	.	C	7.894	0.732957	0.15507	.	.	ENSG00000130383	ENST00000252675	T	0.32023	1.47	1.75	0.691	0.18045	.	1.546710	0.04245	U	0.337696	T	0.27489	0.0675	L	0.50333	1.59	0.09310	N	1	B	0.21071	0.051	B	0.19391	0.025	T	0.22138	-1.0225	10	0.35671	T	0.21	.	4.0728	0.09891	0.0:0.7775:0.0:0.2225	.	14	Q11128	FUT5_HUMAN	H	14	ENSP00000252675:R14H	ENSP00000252675:R14H	R	-	2	0	FUT5	5818696	0.000000	0.05858	0.009000	0.14445	0.006000	0.05464	-0.321000	0.08018	0.291000	0.22468	0.407000	0.27541	CGC	FUT5	-	NULL	ENSG00000130383		0.607	AC024592.12-002	PUTATIVE	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	FUT5	HGNC	protein_coding	OTTHUMT00000452249.1		0	8	0	C			5867696	-1			no_errors	ENST00000252675	ensembl	human	known	74_37	missense	8.33	77	7	SNP	0.030	T	T	5867696	C	T	5867696	3	4	75	1	0	0	0	0	1	0	0	0	6131	768	27	1	1087	1	FUT5	19	5867696	Missense_Mutation	SNP	C	TCGA-L5-A88Y-01A-11D-A351-09		5867696	53261287	3	19850											
SKI	6497	genome.wustl.edu	37	chr1	2160969	2160969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgccgcctcatgtaccCgccgcacaagttcgtggtgc	6	8	12	15	4	1	0	1	0	0	0	2	1	1	1	4	2	3	3	4	2	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:2160969C>G	ENST00000378536.4	+	1	836	c.764C>G	c.(763-765)cCg>cGg	p.P255R		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	255					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CTCATGTACCCGCCGCACAAG	0.662																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													27	30	29					1																	2160969		2186	4289	6475	SO:0001583	missense	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.764C>G	1.37:g.2160969C>G	ENSP00000367797:p.Pro255Arg		Q5SYT7	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.P255R	ENST00000378536.4	37	c.764	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563549	0.86335	.	.	ENSG00000157933	ENST00000378536	D	0.96073	-3.9	4.39	4.39	0.52855	SAND domain-like (2);c-SKI Smad4-binding (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97758	1.0219	10	0.59425	D	0.04	-21.0597	15.9423	0.79768	0.0:1.0:0.0:0.0	.	255	P12755	SKI_HUMAN	R	255	ENSP00000367797:P255R	ENSP00000367797:P255R	P	+	2	0	SKI	2150829	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.511000	0.81718	1.992000	0.58205	0.393000	0.25936	CCG	SKI	-	pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like	ENSG00000157933		0.662	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1		0	148	0	C	NM_003036		2160969	1			no_errors	ENST00000378536	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	G	G	2160969	C	G	2160969	3	3	76	1	0	0	0	0	1	0	0	0	14402	652	23	5	766	5	SKI	1	2160969	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09		2160969	247089652	1	19851											
UBIAD1	29914	genome.wustl.edu	37	chr1	11345718	11345718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaattggattcaagtacGtggctctgggagacctcatc	10	10	12	9	1	3	1	2	0	1	1	4	4	3	3	1	4	1	2	1	4	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:11345718G>T	ENST00000376810.5	+	2	873	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	183					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.V183M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ATTCAAGTACGTGGCTCTGGG	0.552																																																	1	Substitution - Missense(1)	prostate(1)											101	85	90					1																	11345718		2203	4300	6503	SO:0001583	missense	0				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.547G>T	1.37:g.11345718G>T	ENSP00000366006:p.Val183Leu		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	pfam_UbiA_prenyltransferase	p.V183L	ENST00000376810.5	37	c.547	CCDS129.1	1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298214	0.40694	.	.	ENSG00000120942	ENST00000376810	D	0.92446	-3.04	5.44	4.52	0.55395	.	0.120448	0.56097	N	0.000034	D	0.83700	0.5311	N	0.17674	0.51	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.76389	-0.2977	10	0.06891	T	0.86	0.0579	13.7157	0.62695	0.0:0.1649:0.8351:0.0	.	183	Q9Y5Z9	UBIA1_HUMAN	L	183	ENSP00000366006:V183L	ENSP00000366006:V183L	V	+	1	0	UBIAD1	11268305	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	7.550000	0.82173	1.260000	0.44134	0.491000	0.48974	GTG	UBIAD1	-	pfam_UbiA_prenyltransferase	ENSG00000120942		0.552	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBIAD1	HGNC	protein_coding	OTTHUMT00000005773.1		0	67	0	G	NM_013319		11345718	1			no_errors	ENST00000376810	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.998	T	T	11345718	G	T	11345718	3	4	76	1	0	0	0	0	1	0	0	0	16934	1145	40	2	553	2	UBIAD1	1	11345718	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	9184749	11345718	237904903	2	19852											
SPEN	23013	genome.wustl.edu	37	chr1	16257159	16257159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgatttgcaaattttcGaaacaacaaagataaagaaa	19	9	5	8	2	0	2	0	0	0	2	2	4	1	2	1	0	3	1	1	0	7	4	rs141407539		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:16257159G>T	ENST00000375759.3	+	11	4628	c.4424G>T	c.(4423-4425)cGa>cTa	p.R1475L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1475					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCAAATTTTCGAAACAACAAA	0.383																																																	0													59	64	62					1																	16257159		2199	4300	6499	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4424G>T	1.37:g.16257159G>T	ENSP00000364912:p.Arg1475Leu		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R1475L	ENST00000375759.3	37	c.4424	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.373394	0.42105	.	.	ENSG00000065526	ENST00000375759	T	0.12879	2.64	5.27	5.27	0.74061	.	.	.	.	.	T	0.27731	0.0682	L	0.32530	0.975	0.47374	D	0.999408	D	0.76494	0.999	D	0.65010	0.931	T	0.00878	-1.1530	9	0.66056	D	0.02	-8.5555	19.0911	0.93227	0.0:0.0:1.0:0.0	.	1475	Q96T58	MINT_HUMAN	L	1475	ENSP00000364912:R1475L	ENSP00000364912:R1475L	R	+	2	0	SPEN	16129746	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	3.357000	0.52277	2.746000	0.94184	0.563000	0.77884	CGA	SPEN	-	NULL	ENSG00000065526		0.383	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1		0	98	0	G	NM_015001		16257159	1			no_errors	ENST00000375759	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	16257159	G	T	16257159	3	4	76	1	0	0	0	0	1	0	0	0	15085	1058	37	2	4466	2	SPEN	1	16257159	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	4911441	16257159	232993462	3	19853											
ZBTB17	7709	genome.wustl.edu	37	chr1	16274893	16274893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttatgagccttaaagtgaAcaccgtccaccacaaaggtg	13	9	8	11	1	0	2	0	2	0	0	1	2	1	2	4	1	2	0	4	1	5	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:16274893A>G	ENST00000375743.4	-	3	330	c.98T>C	c.(97-99)gTt>gCt	p.V33A	ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.V33A|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000375733.2_Missense_Mutation_p.V33A	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	33	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTTAAAGTGAACACCGTCCAC	0.562																																																	0													88	80	82					1																	16274893		2203	4300	6503	SO:0001583	missense	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.98T>C	1.37:g.16274893A>G	ENSP00000364895:p.Val33Ala		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V33A	ENST00000375743.4	37	c.98	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.659090	0.67586	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000448462	T;T;T	0.66460	-0.21;-0.21;-0.21	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.151201	0.44285	D	0.000465	T	0.71945	0.3400	L	0.37466	1.105	0.25928	N	0.983025	D;D;P;D;D;P	0.69078	0.975;0.997;0.901;0.997;0.997;0.587	P;D;B;D;D;B	0.73708	0.866;0.981;0.38;0.981;0.945;0.361	T	0.65429	-0.6170	10	0.87932	D	0	.	10.0476	0.42197	0.8499:0.0:0.0:0.1501	.	33;33;33;33;33;33	B4DGV6;E7EPQ4;Q13105-2;B4DSM7;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	A	33	ENSP00000364895:V33A;ENSP00000364885:V33A;ENSP00000391002:V33A	ENSP00000364885:V33A	V	-	2	0	ZBTB17	16147480	0.999000	0.42202	0.363000	0.25875	0.962000	0.63368	5.245000	0.65405	2.140000	0.66376	0.459000	0.35465	GTT	ZBTB17	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000116809		0.562	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	-	0	55	0	A	NM_003443		16274893	-1	tier1	-	no_errors	ENST00000375733	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.776	G	G	16274893	A	G	16274893	3	3	76	1	0	0	0	0	1	0	0	0	17575	43	2	4	2369	4	ZBTB17	1	16274893	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	17734	16274893	232975728	4	19854											
ARID1A	8289	genome.wustl.edu	37	chr1	27106916	27106916	+	Frame_Shift_Del	DEL	A	A	-																															actgctggccaacctggctcAgggggacagcctggcagctc																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:27106916delA	ENST00000324856.7	+	20	6898	c.6527delA	c.(6526-6528)cagfs	p.Q2176fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q1959fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.Q504fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q1793fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2176					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AACCTGGCTCAGGGGGACAGC	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													69	67	68					1																	27106916		2203	4300	6503	SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6527delA	1.37:g.27106916delA	ENSP00000320485:p.Gln2176fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q2176fs	ENST00000324856.7	37	c.6527	CCDS285.1	1																																																																																			ARID1A	-	pfam_DUF3518,superfamily_ARM-type_fold	ENSG00000117713		0.607	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	57	0	A	NM_139135		27106916	1	tier1		no_errors	ENST00000324856	ensembl	human	known	74_37	frame_shift_del	51.52	16	17	DEL	1.000	-	-	27106916	A	-	27106916	7	5	76	1	0	1	0	1	0	0	0	0	913	188	7	0	6605	0	ARID1A	1	27106916	Frame_Shift_Del	DEL	A	TCGA-L5-A88Z-01A-11D-A36J-09	10832023	27106916	222143705	5	19855											
SESN2	83667	genome.wustl.edu	37	chr1	28598185	28598185	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcccctttggttggcagGtccttcgggagggggctgag	3	11	16	11	1	0	1	0	1	0	0	4	2	3	2	4	6	0	3	4	6	0	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:28598185G>T	ENST00000253063.3	+	3	478	c.157G>T	c.(157-159)Gtc>Ttc	p.V53F		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	53					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTGGCAGGTCCTTCGGGA	0.567																																																	0													49	52	51					1																	28598185		2203	4300	6503	SO:0001630	splice_region_variant	0			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.157-1G>T	1.37:g.28598185G>T			Q5T7D0|Q96SI5	Missense_Mutation	SNP	pfam_PA26	p.V53F	ENST00000253063.3	37	c.157	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454861	0.43634	.	.	ENSG00000130766	ENST00000253063	T	0.23348	1.91	5.08	0.82	0.18793	.	0.640916	0.16019	N	0.233423	T	0.17152	0.0412	L	0.36672	1.1	0.35225	D	0.776347	B	0.26708	0.157	B	0.24974	0.057	T	0.19289	-1.0310	9	.	.	.	-16.7711	8.3519	0.32307	0.5513:0.0:0.4487:0.0	.	53	P58004	SESN2_HUMAN	F	53	ENSP00000253063:V53F	.	V	+	1	0	SESN2	28470772	1.000000	0.71417	0.990000	0.47175	0.850000	0.48378	1.565000	0.36386	0.213000	0.20722	0.655000	0.94253	GTC	SESN2	-	pfam_PA26	ENSG00000130766		0.567	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	-	0	65	0	G		Missense_Mutation	28598185	1	tier1	-	no_errors	ENST00000253063	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	28598185	G	T	28598185	5	4	76	1	0	0	0	0	0	0	1	0	14170	1275	44	3	167	3	SESN2	1	28598185	Splice_Site	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	1491269	28598185	220652436	6	19856											
CSMD2	114784	genome.wustl.edu	37	chr1	34083116	34083116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctggagggcatatcccgGctcacactggaaagacacca	12	6	10	13	1	1	1	1	0	0	1	2	3	2	3	3	4	1	2	3	4	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:34083116G>T	ENST00000373380.1	-	17	2768	c.2548C>A	c.(2548-2550)Ccg>Acg	p.P850T	CSMD2_ENST00000373388.2_Missense_Mutation_p.P76T|CSMD2_ENST00000373381.4_Missense_Mutation_p.P1977T|CSMD2_ENST00000373377.1_Missense_Mutation_p.P76T			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1937	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCATATCCCGGCTCACACTGG	0.587																																																	0													111	84	93					1																	34083116		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2548C>A	1.37:g.34083116G>T	ENSP00000362478:p.Pro850Thr		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P1977T	ENST00000373380.1	37	c.5929		1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.786077	0.90282	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75925	0.3916	L	0.49513	1.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76413	-0.2968	10	0.62326	D	0.03	.	18.3393	0.90299	0.0:0.0:1.0:0.0	.	850;1937;1977	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	T	1977;850;76;76	ENSP00000362479:P1977T;ENSP00000362478:P850T;ENSP00000362475:P76T;ENSP00000362486:P76T	ENSP00000241312:P1937T	P	-	1	0	CSMD2	33855703	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.960000	0.87893	2.676000	0.91093	0.655000	0.94253	CCG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.587	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0	81	0	G	NM_052896		34083116	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	34083116	G	T	34083116	3	4	76	1	0	0	0	0	1	0	0	0	3954	1203	42	3	4782	3	CSMD2	1	34083116	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	5484931	34083116	215167505	7	19857											
ZMYM6	9204	genome.wustl.edu	37	chr1	35457931	35457931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgttctttaaaagccTggaaggctgggaagattggg	9	12	14	6	0	1	1	0	0	1	1	1	3	1	3	2	4	1	2	2	4	4	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:35457931T>C	ENST00000357182.4	-	15	2277	c.2050A>G	c.(2050-2052)Agg>Ggg	p.R684G	ZMYM6_ENST00000487874.1_Missense_Mutation_p.R684G|ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.R684G	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	684					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTTAAAAGCCTGGAAGGCTGG	0.393																																																	0													202	187	192					1																	35457931		2203	4300	6503	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2050A>G	1.37:g.35457931T>C	ENSP00000349708:p.Arg684Gly		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.R684G	ENST00000357182.4	37	c.2050	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.623084	0.28889	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.27256	1.68;2.76	4.47	3.26	0.37387	.	0.464708	0.21687	N	0.070637	T	0.28632	0.0709	L	0.43923	1.385	0.09310	N	0.999996	B;B;B	0.31485	0.18;0.325;0.294	B;B;B	0.42245	0.083;0.131;0.381	T	0.23154	-1.0196	10	0.56958	D	0.05	0.2996	10.6994	0.45918	0.0:0.0:0.2911:0.7089	.	587;684;684	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	G	684	ENSP00000362437:R684G;ENSP00000349708:R684G	ENSP00000349708:R684G	R	-	1	2	ZMYM6	35230518	0.019000	0.18553	0.077000	0.20336	0.861000	0.49209	0.952000	0.29149	2.009000	0.58944	0.477000	0.44152	AGG	ZMYM6	-	NULL	ENSG00000163867		0.393	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0	98	0	T	NM_007167		35457931	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.193	C	C	35457931	T	C	35457931	3	2	76	1	0	0	0	0	1	0	0	0	17752	1579	55	4	1935	4	ZMYM6	1	35457931	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	1374815	35457931	213792690	8	19858											
IPP	3652	genome.wustl.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-																															aaagcatagatagccccataAcacacacacactcctaagcc																								rs144663569		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs		A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C388fs	ENST00000396478.3	37	c.1164_1163	CCDS30702.1	1																																																																																			IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3		0	52	0	AC	NM_005897		46184898	-1	tier1		no_errors	ENST00000396478	ensembl	human	known	74_37	frame_shift_del	12.12	29	4	DEL	1.000:1.000	-	-	46184898	AC	-	46184897	7	5	76	1	0	1	0	1	0	0	0	0	7827	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-L5-A88Z-01A-11D-A36J-09	10726966	46184897	203065724	9	19859											
ACOT11	26027	genome.wustl.edu	37	chr1	55065065	55065065	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctggtgctcaaagccatCgtgaacaatgccttcaaaca	12	9	8	12	2	3	1	2	1	1	0	4	1	3	1	2	1	5	1	2	1	4	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:55065065C>A	ENST00000371316.3	+	8	943	c.861C>A	c.(859-861)atC>atA	p.I287I	ACOT11_ENST00000343744.2_Silent_p.I287I|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	287	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCAAAGCCATCGTGAACAATG	0.597																																					Ovarian(148;1440 1861 22015 32453 51933)												0													167	153	158					1																	55065065		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.861C>A	1.37:g.55065065C>A			B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.I287	ENST00000371316.3	37	c.861	CCDS592.1	1																																																																																			ACOT11	-	pfam_Thioestr_supf	ENSG00000162390		0.597	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1	-	0	154	0	C	NM_015547		55065065	1	tier1	-	no_errors	ENST00000371316	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.201	A	A	55065065	C	A	55065065	2	1	76	1	0	0	0	0	0	0	0	1	149	874	31	2		2	ACOT11	1	55065065	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	8880168	55065065	194185556	10	19860											
CTBS	1486	genome.wustl.edu	37	chr1	85020793	85020793	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattccacatgccaatgccCcgtaagcgatagttttgtat	10	12	8	11	2	0	0	0	0	0	0	1	1	1	0	4	0	3	4	4	0	4	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:85020793C>A	ENST00000370630.5	-	7	1095	c.1047G>T	c.(1045-1047)cgG>cgT	p.R349R	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	349					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TGCCAATGCCCCGTAAGCGAT	0.403																																																	0													142	137	139					1																	85020793		2203	4300	6503	SO:0001819	synonymous_variant	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.1047G>T	1.37:g.85020793C>A			Q5VX50	Silent	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.R349	ENST00000370630.5	37	c.1047	CCDS698.1	1																																																																																			CTBS	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000117151		0.403	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2		0	81	0	C	NM_004388		85020793	-1			no_errors	ENST00000370630	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.248	A	A	85020793	C	A	85020793	2	1	76	1	0	0	0	0	0	0	0	1	4008	610	22	3		3	CTBS	1	85020793	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	29955728	85020793	164229828	11	19861											
GBP7	388646	genome.wustl.edu	37	chr1	89599004	89599004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccctttccctctccatCttcttcttgagttgagctat	4	20	4	13	0	4	2	0	2	4	0	7	2	6	2	3	0	1	2	3	0	1	8	rs571294599	byFrequency	TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:89599004C>G	ENST00000294671.2	-	10	1737	c.1599G>C	c.(1597-1599)aaG>aaC	p.K533N		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	533						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CCCTCTCCATCTTCTTCTTGA	0.443																																																	0													300	273	282					1																	89599004		2202	4300	6502	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.1599G>C	1.37:g.89599004C>G	ENSP00000294671:p.Lys533Asn			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.K533N	ENST00000294671.2	37	c.1599	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885880	0.33348	.	.	ENSG00000213512	ENST00000294671	T	0.02944	4.1	3.6	-0.697	0.11284	Guanylate-binding protein, C-terminal (3);	0.283896	0.35495	N	0.003170	T	0.07007	0.0178	M	0.93283	3.4	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.04723	-1.0931	10	0.62326	D	0.03	.	3.6926	0.08351	0.0:0.4693:0.1879:0.3428	.	533	Q8N8V2	GBP7_HUMAN	N	533	ENSP00000294671:K533N	ENSP00000294671:K533N	K	-	3	2	GBP7	89371592	0.140000	0.22579	0.003000	0.11579	0.028000	0.11728	0.848000	0.27710	-0.248000	0.09583	-0.229000	0.12294	AAG	GBP7	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000213512		0.443	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	-	0	77	0	C	NM_207398		89599004	-1	tier1	-	no_errors	ENST00000294671	ensembl	human	known	74_37	missense	34.48	38	20	SNP	0.012	G	G	89599004	C	G	89599004	3	3	76	1	0	0	0	0	1	0	0	0	6304	912	32	5	325	5	GBP7	1	89599004	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	4578211	89599004	159651617	12	19862											
DNTTIP2	30836	genome.wustl.edu	37	chr1	94342746	94342746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctcagaaagagatcttgCttgtaaatgggaagtttgtc	12	14	10	5	0	2	2	1	0	2	2	4	4	2	3	0	1	1	3	0	1	5	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:94342746C>T	ENST00000436063.2	-	2	802	c.745G>A	c.(745-747)Gca>Aca	p.A249T	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AGAGATCTTGCTTGTAAATGG	0.348																																																	0													111	110	110					1																	94342746		1815	4067	5882	SO:0001583	missense	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.745G>A	1.37:g.94342746C>T	ENSP00000411010:p.Ala249Thr		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	pfam_Fcf2	p.A249T	ENST00000436063.2	37	c.745	CCDS44174.1	1	.	.	.	.	.	.	.	.	.	.	C	3.471	-0.108012	0.06924	.	.	ENSG00000067334	ENST00000436063	T	0.16897	2.31	3.57	0.585	0.17428	.	0.508954	0.16516	N	0.211012	T	0.04770	0.0129	L	0.50333	1.59	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.34725	-0.9817	10	0.52906	T	0.07	.	4.3471	0.11138	0.1565:0.5727:0.0:0.2708	.	249	Q5QJE6	TDIF2_HUMAN	T	249	ENSP00000411010:A249T	ENSP00000352137:A249T	A	-	1	0	DNTTIP2	94115334	0.000000	0.05858	0.159000	0.22649	0.153000	0.21895	0.276000	0.18716	0.026000	0.15269	-0.825000	0.03093	GCA	DNTTIP2	-	NULL	ENSG00000067334		0.348	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2		0	91	0	C	NM_014597		94342746	-1			no_errors	ENST00000436063	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.028	T	T	94342746	C	T	94342746	3	4	76	1	0	0	0	0	1	0	0	0	4696	797	28	3	1549	3	DNTTIP2	1	94342746	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	4743742	94342746	154907875	13	19863											
DCST2	127579	genome.wustl.edu	37	chr1	154996981	154996981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaggaaggcacttctgtggCcctggtcagccgcccgccgc	5	7	13	16	3	2	0	1	0	1	0	2	1	2	1	4	4	1	1	4	4	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:154996981C>T	ENST00000368424.3	-	11	1767	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D	DCST2_ENST00000295536.5_Missense_Mutation_p.G570D	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	570						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTTCTGTGGCCCTGGTCAGC	0.577																																																	0													55	55	55					1																	154996981		2203	4300	6503	SO:0001583	missense	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1709G>A	1.37:g.154996981C>T	ENSP00000357409:p.Gly570Asp		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.G570D	ENST00000368424.3	37	c.1709	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	C	1.990	-0.432138	0.04669	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.24723	1.84;1.9	4.14	1.11	0.20524	.	0.753844	0.11793	N	0.528906	T	0.04588	0.0125	N	0.08118	0	0.20764	N	0.999855	D	0.59767	0.986	P	0.48454	0.578	T	0.13575	-1.0504	10	0.15066	T	0.55	-10.5518	4.8706	0.13631	0.0:0.6206:0.1769:0.2026	.	570	Q5T1A1	DCST2_HUMAN	D	570	ENSP00000357409:G570D;ENSP00000295536:G570D	ENSP00000295536:G570D	G	-	2	0	DCST2	153263605	0.103000	0.21917	0.425000	0.26659	0.125000	0.20455	1.073000	0.30691	0.059000	0.16252	-0.379000	0.06801	GGC	DCST2	-	NULL	ENSG00000163354		0.577	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	-	0	50	0	C	NM_144622		154996981	-1	tier1	-	no_errors	ENST00000368424	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.633	T	T	154996981	C	T	154996981	3	4	76	1	0	0	0	0	1	0	0	0	4312	739	26	3	632	3	DCST2	1	154996981	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	60654235	154996981	94253640	14	19864											
VANGL2	57216	genome.wustl.edu	37	chr1	160390311	160390311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggccaagaaagtgtctgGcttcaaggtgtattccctcg	8	11	11	11	1	2	1	1	0	1	1	4	1	3	1	3	3	0	2	3	3	4	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:160390311G>A	ENST00000368061.2	+	5	1385	c.911G>A	c.(910-912)gGc>gAc	p.G304D	VANGL2_ENST00000483408.1_Intron	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	304					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAAGTGTCTGGCTTCAAGGTG	0.567																																																	0													153	120	131					1																	160390311		2203	4300	6503	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.911G>A	1.37:g.160390311G>A	ENSP00000357040:p.Gly304Asp		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.G304D	ENST00000368061.2	37	c.911	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820116	0.90873	.	.	ENSG00000162738	ENST00000368061	T	0.81247	-1.47	4.91	4.91	0.64330	.	0.122413	0.53938	D	0.000050	D	0.86151	0.5864	M	0.82517	2.595	0.80722	D	1	D	0.56746	0.977	P	0.56434	0.798	D	0.87496	0.2430	10	0.56958	D	0.05	-25.4854	16.8162	0.85734	0.0:0.0:1.0:0.0	.	304	Q9ULK5	VANG2_HUMAN	D	304	ENSP00000357040:G304D	ENSP00000357040:G304D	G	+	2	0	VANGL2	158656935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.399000	0.79935	2.549000	0.85964	0.561000	0.74099	GGC	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.567	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0	99	0	G	NM_020335		160390311	1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	missense	61.27	55	87	SNP	1.000	A	A	160390311	G	A	160390311	3	1	76	1	0	0	0	0	1	0	0	0	17169	1203	42	3	925	3	VANGL2	1	160390311	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	5393330	160390311	88860310	15	19865											
PPOX	5498	genome.wustl.edu	37	chr1	161139725	161139725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctccctgctgaggctGcccctctggctcgtgccctg	2	10	12	17	1	1	1	0	1	1	0	3	1	2	1	4	2	5	5	4	2	0	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:161139725G>T	ENST00000367999.4	+	9	1164	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.A300S|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	300					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGCTGAGGCTGCCCCTCTGGC	0.547																																																	0													76	70	72					1																	161139725		2203	4300	6503	SO:0001583	missense	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.898G>T	1.37:g.161139725G>T	ENSP00000356978:p.Ala300Ser		D3DVG0|Q5VTW8	Missense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.A300S	ENST00000367999.4	37	c.898	CCDS1221.1	1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848429	0.32699	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92858	-3.12;-3.12	5.43	3.56	0.40772	Amine oxidase (1);	0.300742	0.35677	N	0.003041	T	0.65974	0.2743	N	0.17838	0.53	0.30189	N	0.799705	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.15052	0.012;0.009;0.003	T	0.50964	-0.8765	10	0.06236	T	0.91	-32.6673	6.8768	0.24151	0.0872:0.0:0.7404:0.1724	.	267;138;300	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	S	300;300;267	ENSP00000343943:A300S;ENSP00000356978:A300S	ENSP00000343943:A300S	A	+	1	0	PPOX	159406349	0.191000	0.23288	0.044000	0.18714	0.980000	0.70556	2.804000	0.47931	0.841000	0.35020	0.650000	0.86243	GCC	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.547	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	-	0	34	0	G	NM_000309		161139725	1	tier1	-	no_errors	ENST00000352210	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.108	T	T	161139725	G	T	161139725	3	4	76	1	0	0	0	0	1	0	0	0	12390	1319	46	3	928	3	PPOX	1	161139725	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	749414	161139725	88110896	16	19866											
NDUFS2	4720	genome.wustl.edu	37	chr1	161180118	161180118	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaataggatctggCgaaatcggacaattgacatt	15	9	9	8	2	1	2	0	2	1	0	2	5	1	4	1	3	1	0	1	3	5	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:161180118C>T	ENST00000367993.3	+	9	1253	c.805C>T	c.(805-807)Cga>Tga	p.R269*	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000476409.2_Nonsense_Mutation_p.R171*|NDUFS2_ENST00000392179.4_Nonsense_Mutation_p.R269*	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	269					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)	p.R269*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	TAGGATCTGGCGAAATCGGAC	0.428											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	prostate(1)											136	122	127					1																	161180118		2203	4300	6503	SO:0001587	stop_gained	0			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7708	protein-coding gene	gene with protein product	"complex I 49kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"	602985	"NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.805C>T	1.37:g.161180118C>T	ENSP00000356972:p.Arg269*	1814	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Nonsense_Mutation	SNP	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	p.R269*	ENST00000367993.3	37	c.805	CCDS1224.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.635171	0.97722	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409	.	.	.	5.29	3.34	0.38264	.	0.491311	0.21033	N	0.081316	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.174	0.54176	0.3321:0.6679:0.0:0.0	.	.	.	.	X	269;269;171	.	ENSP00000356972:R269X	R	+	1	2	NDUFS2	159446742	1.000000	0.71417	0.972000	0.41901	0.984000	0.73092	1.758000	0.38410	0.718000	0.32166	0.655000	0.94253	CGA	NDUFS2	-	pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H	ENSG00000158864		0.428	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1		0	36	0	C	NM_004550		161180118	1			no_errors	ENST00000367993	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	0.998	T	T	161180118	C	T	161180118	4	4	76	1	0	0	0	0	0	1	0	0	10331	760	27	1	835	1	NDUFS2	1	161180118	Nonsense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	40393	161180118	88070503	17	19867											
NME7	29922	genome.wustl.edu	37	chr1	169199958	169199958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttaaacaataacttacagGatcagcaggtccacaaaatt	17	11	5	8	0	1	0	1	0	0	0	2	1	2	1	1	2	4	1	1	2	7	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:169199958G>T	ENST00000367811.3	-	10	1244	c.988C>A	c.(988-990)Cct>Act	p.P330T	NME7_ENST00000472647.1_Missense_Mutation_p.P294T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	330					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TAACTTACAGGATCAGCAGGT	0.318																																																	0													73	67	69					1																	169199958		2203	4299	6502	SO:0001583	missense	0			AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"cilia and flagella associated protein 67"	613465	"non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.988C>A	1.37:g.169199958G>T	ENSP00000356785:p.Pro330Thr		A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Uncharacterised_DM10,smart_Nucleoside_diP_kinase,pirsf_NDK7,prints_Nucleoside_diP_kinase	p.P330T	ENST00000367811.3	37	c.988	CCDS1277.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941692	0.73557	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.59502	0.26;0.26	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.77350	0.4117	M	0.93241	3.395	0.44337	D	0.997221	D	0.89917	1.0	D	0.85130	0.997	D	0.83569	0.0111	9	0.72032	D	0.01	-16.4896	12.9204	0.58228	0.0:0.0:1.0:0.0	.	330	Q9Y5B8	NDK7_HUMAN	T	294;330	ENSP00000433341:P294T;ENSP00000356785:P330T	ENSP00000356785:P330T	P	-	1	0	NME7	167466582	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.964000	0.76061	2.404000	0.81709	0.650000	0.86243	CCT	NME7	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK7	ENSG00000143156		0.318	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME7	HGNC	protein_coding	OTTHUMT00000083688.1		0	54	0	G	NM_013330		169199958	-1			no_errors	ENST00000367811	ensembl	human	known	74_37	missense	5.88	80	5	SNP	1.000	T	T	169199958	G	T	169199958	3	4	76	1	0	0	0	0	1	0	0	0	10535	1174	41	3	154	3	NME7	1	169199958	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	8019840	169199958	80050663	18	19868											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564652	176564652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtaacaacatgctgaacGactttgacgacggagactgc	13	8	11	9	3	0	3	0	2	0	1	0	6	0	3	0	1	5	2	0	1	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:176564652G>A	ENST00000367662.3	+	3	3076	c.1912G>A	c.(1912-1914)Gac>Aac	p.D638N	PAPPA2_ENST00000367661.3_Missense_Mutation_p.D638N	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	638	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATGCTGAACGACTTTGACGA	0.602																																																	0													70	76	74					1																	176564652		2168	4268	6436	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1912G>A	1.37:g.176564652G>A	ENSP00000356634:p.Asp638Asn		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D638N	ENST00000367662.3	37	c.1912	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017218	0.54576	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30182	4.78;1.54	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	L	0.28400	0.85	0.43195	D	0.99503	B;D	0.56968	0.354;0.978	B;P	0.46479	0.044;0.518	T	0.01476	-1.1345	10	0.21014	T	0.42	-25.7887	13.1942	0.59728	0.0769:0.0:0.9231:0.0	.	638;638	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	N	638	ENSP00000356634:D638N;ENSP00000356633:D638N	ENSP00000356633:D638N	D	+	1	0	PAPPA2	174831275	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	3.863000	0.56016	2.542000	0.85734	0.650000	0.86243	GAC	PAPPA2	-	NULL	ENSG00000116183		0.602	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	59	0	G			176564652	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	30.43	64	28	SNP	1.000	A	A	176564652	G	A	176564652	3	1	76	1	0	0	0	0	1	0	0	0	11472	1058	37	1	1918	1	PAPPA2	1	176564652	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	7364694	176564652	72685969	19	19869											
NVL	4931	genome.wustl.edu	37	chr1	224495770	224495770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaactgtctttctttacacTtggggttttgtcaataaacc	11	16	6	8	0	3	0	1	0	2	0	3	0	3	0	1	2	3	1	1	2	6	7			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:224495770T>A	ENST00000281701.6	-	6	797	c.538A>T	c.(538-540)Agt>Tgt	p.S180C	NVL_ENST00000469075.1_Intron|NVL_ENST00000361463.3_Missense_Mutation_p.S74C|NVL_ENST00000391875.2_Missense_Mutation_p.S74C|NVL_ENST00000340871.4_Intron|RNU6-1008P_ENST00000384160.1_RNA|NVL_ENST00000482491.1_Intron	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	180						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTCTTTACACTTGGGGTTTTG	0.393																																																	0													134	132	132					1																	224495770		2203	4300	6503	SO:0001583	missense	0			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.538A>T	1.37:g.224495770T>A	ENSP00000281701:p.Ser180Cys		B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S180C	ENST00000281701.6	37	c.538	CCDS1541.1	1	.	.	.	.	.	.	.	.	.	.	T	9.873	1.199375	0.22121	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000361463;ENST00000492281;ENST00000436927	D;D;D	0.95518	-3.57;-3.58;-3.73	5.78	-2.36	0.06663	.	0.778386	0.12319	N	0.479458	D	0.88669	0.6499	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.77056	-0.2729	10	0.45353	T	0.12	-0.0366	1.0754	0.01631	0.189:0.3428:0.1697:0.2986	.	180	O15381	NVL_HUMAN	C	180;74;74;85;76	ENSP00000281701:S180C;ENSP00000375747:S74C;ENSP00000354779:S74C	ENSP00000281701:S180C	S	-	1	0	NVL	222562393	0.000000	0.05858	0.009000	0.14445	0.692000	0.40212	-1.837000	0.01689	-0.317000	0.08677	-0.242000	0.12053	AGT	NVL	-	NULL	ENSG00000143748		0.393	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NVL	HGNC	protein_coding	OTTHUMT00000091453.2	-	0	152	0	T	NM_002533		224495770	-1	tier1	-	no_errors	ENST00000281701	ensembl	human	known	74_37	missense	24.56	129	42	SNP	0.005	A	A	224495770	T	A	224495770	3	1	76	1	0	0	0	0	1	0	0	0	10819	1609	56	5	2104	5	NVL	1	224495770	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	47931118	224495770	24754851	20	19870											
OBSCN	84033	genome.wustl.edu	37	chr1	228495134	228495134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggagccagggggccaCgcgggagctgctgatccacc	7	4	17	13	3	0	1	0	1	0	0	1	4	1	3	4	4	4	2	4	4	0	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:228495134C>T	ENST00000422127.1	+	46	12412	c.12368C>T	c.(12367-12369)aCg>aTg	p.T4123M	OBSCN_ENST00000366709.4_Missense_Mutation_p.T1242M|OBSCN_ENST00000570156.2_Missense_Mutation_p.T5080M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1757M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T4123M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4123	Ig-like 42.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGGGGCCACGCGGGAGCTG	0.657																																																	0													27	39	35					1																	228495134		2143	4226	6369	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12368C>T	1.37:g.228495134C>T	ENSP00000409493:p.Thr4123Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.T4123M	ENST00000422127.1	37	c.12368	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376046	0.24857	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.81	-9.13	0.00704	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.343340	0.04797	N	0.432783	T	0.55417	0.1919	L	0.46670	1.46	0.09310	N	1	B;B	0.27316	0.175;0.022	B;B	0.16722	0.016;0.006	T	0.46484	-0.9188	10	0.45353	T	0.12	.	14.1401	0.65313	0.0:0.203:0.0809:0.716	.	4123;4123	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	4123;4123;1757;1242	ENSP00000284548:T4123M;ENSP00000409493:T4123M;ENSP00000355668:T1757M;ENSP00000355670:T1242M	ENSP00000284548:T4123M	T	+	2	0	OBSCN	226561757	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.984000	0.03755	-1.771000	0.01293	-1.327000	0.01280	ACG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154358		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	51	0	C	NM_052843		228495134	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	56.58	33	43	SNP	0.000	T	T	228495134	C	T	228495134	3	4	76	1	0	0	0	0	1	0	0	0	10851	536	19	1	12546	1	OBSCN	1	228495134	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	3999364	228495134	20755487	21	19871											
TRIM67	440730	genome.wustl.edu	37	chr1	231344888	231344888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccttcggggtggccaGggccagcgtggtcaaggaca	6	5	16	14	3	1	0	1	0	0	0	2	1	1	1	5	6	1	0	5	6	1	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:231344888G>A	ENST00000366653.5	+	8	2015	c.2015G>A	c.(2014-2016)aGg>aAg	p.R672K	TRIM67_ENST00000449018.3_Missense_Mutation_p.R610K|TRIM67_ENST00000444294.3_Missense_Mutation_p.R670K|TRIM67_ENST00000366652.2_Missense_Mutation_p.R672K			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	672	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)	p.R672M(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGGTGGCCAGGGCCAGCGTG	0.627																																																	2	Substitution - Missense(2)	lung(2)											84	93	90					1																	231344888		2194	4297	6491	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2015G>A	1.37:g.231344888G>A	ENSP00000355613:p.Arg672Lys		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.R672K	ENST00000366653.5	37	c.2015	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.654860	0.96724	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.70937	0.3281	M	0.71581	2.175	0.80722	D	1	P	0.38250	0.624	B	0.40329	0.326	T	0.68530	-0.5384	10	0.33141	T	0.24	.	20.2699	0.98469	0.0:0.0:1.0:0.0	.	672	Q6ZTA4	TRI67_HUMAN	K	670;672;610;672	ENSP00000412124:R670K;ENSP00000355612:R672K;ENSP00000400163:R610K;ENSP00000355613:R672K	ENSP00000355612:R672K	R	+	2	0	TRIM67	229411511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.760000	0.98935	2.854000	0.98071	0.655000	0.94253	AGG	TRIM67	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000119283		0.627	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3		0	35	0	G	NM_001004342		231344888	1			no_errors	ENST00000366652	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	231344888	G	A	231344888	3	1	76	1	0	0	0	0	1	0	0	0	16588	1000	35	3	2045	3	TRIM67	1	231344888	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2849754	231344888	17905733	22	19872											
FMN2	56776	genome.wustl.edu	37	chr1	240370709	240370709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctctgccttgcacagagtCctccagctccatgcctggcc	6	9	8	18	0	1	1	0	0	1	1	4	1	4	1	7	1	4	2	7	1	0	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr1:240370709C>T	ENST00000319653.9	+	5	2827	c.2597C>T	c.(2596-2598)tCc>tTc	p.S866F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	866	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCACAGAGTCCTCCAGCTCC	0.562																																																	0													104	100	101					1																	240370709		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2597C>T	1.37:g.240370709C>T	ENSP00000318884:p.Ser866Phe		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.S866F	ENST00000319653.9	37	c.2597	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	1.726	-0.495383	0.04291	.	.	ENSG00000155816	ENST00000319653	T	0.28666	1.6	3.32	2.4	0.29515	Actin-binding FH2/DRF autoregulatory (1);	1.039030	0.07636	N	0.929441	T	0.19725	0.0474	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.27502	-1.0072	9	.	.	.	.	3.2332	0.06756	0.226:0.5476:0.0:0.2264	.	866	Q9NZ56	FMN2_HUMAN	F	866	ENSP00000318884:S866F	.	S	+	2	0	FMN2	238437332	0.000000	0.05858	0.628000	0.29241	0.364000	0.29643	0.532000	0.23067	0.972000	0.38314	0.484000	0.47621	TCC	FMN2	-	smart_FH2_Formin	ENSG00000155816		0.562	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	53	0	C	XM_371352		240370709	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	32.79	41	20	SNP	0.000	T	T	240370709	C	T	240370709	3	4	76	1	0	0	0	0	1	0	0	0	5972	855	30	3	2615	3	FMN2	1	240370709	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	9025821	240370709	8879912	23	19873											
DPYSL5	56896	genome.wustl.edu	37	chr2	27121411	27121411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggatcctcatcaagggagGcaaggtggtgaacgatgact	12	7	15	7	1	2	2	2	2	0	0	3	6	3	4	1	5	1	1	1	5	3	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:27121411G>T	ENST00000288699.6	+	2	202	c.44G>T	c.(43-45)gGc>gTc	p.G15V	DPYSL5_ENST00000401478.1_Missense_Mutation_p.G15V	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	15					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAAGGGAGGCAAGGTGGTG	0.567																																																	0													208	181	190					2																	27121411		2203	4300	6503	SO:0001583	missense	0			AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.44G>T	2.37:g.27121411G>T	ENSP00000288699:p.Gly15Val		Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.G15V	ENST00000288699.6	37	c.44	CCDS1730.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451868	0.84209	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	D;D;D;D;D	0.89123	-2.08;-2.47;-2.47;-2.1;-2.08	4.61	4.61	0.57282	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.94640	0.8272	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95473	0.8553	10	0.87932	D	0	-26.373	16.5828	0.84718	0.0:0.0:1.0:0.0	.	15	Q9BPU6	DPYL5_HUMAN	V	15	ENSP00000407174:G15V;ENSP00000288699:G15V;ENSP00000385549:G15V;ENSP00000399581:G15V;ENSP00000413075:G15V	ENSP00000288699:G15V	G	+	2	0	DPYSL5	26974915	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.292000	0.96076	2.286000	0.76751	0.561000	0.74099	GGC	DPYSL5	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000157851		0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	-	0	57	0	G	NM_020134		27121411	1	tier1	-	no_errors	ENST00000288699	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	27121411	G	T	27121411	3	4	76	1	0	0	0	0	1	0	0	0	4764	1203	42	3	46	3	DPYSL5	2	27121411	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		27121411	216077962	24	19874											
SPAST	6683	genome.wustl.edu	37	chr2	32312627	32312627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaactggaaaaaggaatagCtgttatagttacaggacaag	18	8	11	4	0	0	1	0	0	0	1	0	4	0	4	0	3	3	3	0	3	9	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:32312627C>A	ENST00000315285.3	+	2	607	c.482C>A	c.(481-483)gCt>gAt	p.A161D	SPAST_ENST00000345662.1_Missense_Mutation_p.A161D|AL121655.1_ENST00000577299.1_RNA	NM_014946.3	NP_055761.2			spastin											breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAGGAATAGCTGTTATAGTT	0.303																																																	0													135	144	141					2																	32312627		2203	4300	6503	SO:0001583	missense	0			AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"ATPases / AAA-type"	11233	protein-coding gene	gene with protein product		604277	"spastic paraplegia 4 (autosomal dominant; spastin)"	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.482C>A	2.37:g.32312627C>A	ENSP00000320885:p.Ala161Asp			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin	p.A161D	ENST00000315285.3	37	c.482	CCDS1778.1	2	.	.	.	.	.	.	.	.	.	.	C	20.6	4.011546	0.75046	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	T;T	0.71103	-0.54;-0.54	5.48	4.6	0.57074	MIT (2);	0.121669	0.53938	D	0.000057	T	0.81673	0.4872	L	0.61218	1.895	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.74348	0.983;0.983	T	0.82694	-0.0330	10	0.51188	T	0.08	-32.3531	15.9538	0.79865	0.0:0.8645:0.1355:0.0	.	161;161	E5KRP6;Q9UBP0	.;SPAST_HUMAN	D	161	ENSP00000340817:A161D;ENSP00000320885:A161D	ENSP00000320885:A161D	A	+	2	0	SPAST	32166131	1.000000	0.71417	0.860000	0.33809	0.957000	0.61999	5.825000	0.69286	1.306000	0.44926	0.650000	0.86243	GCT	SPAST	-	pfam_MIT,smart_MIT,pirsf_Spastin	ENSG00000021574		0.303	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAST	HGNC	protein_coding	OTTHUMT00000250253.1	-	0	86	0	C	NM_199436		32312627	1	tier1	-	no_errors	ENST00000315285	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.998	A	A	32312627	C	A	32312627	3	1	76	1	0	0	0	0	1	0	0	0	15044	797	28	3	488	3	SPAST	2	32312627	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	5191216	32312627	210886746	25	19875											
ERLEC1	27248	genome.wustl.edu	37	chr2	54040157	54040157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcatattgaatgggctaaGaagaatactgctagagctta	15	10	11	5	0	0	4	0	1	0	3	0	5	0	4	0	1	4	4	0	1	8	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:54040157G>A	ENST00000185150.4	+	11	1304	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Silent_p.K337K|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Silent_p.K391K	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	391	PRKCSH 2.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						AATGGGCTAAGAAGAATACTG	0.393																																																	0													114	107	109					2																	54040157		2203	4300	6503	SO:0001819	synonymous_variant	0			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"erlectin 1"	611229	"chromosome 2 open reading frame 30"	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1173G>A	2.37:g.54040157G>A			B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.K391	ENST00000185150.4	37	c.1173	CCDS1848.1	2																																																																																			ERLEC1	-	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000068912		0.393	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	-	0	45	0	G	NM_015701		54040157	1	tier1	-	no_errors	ENST00000185150	ensembl	human	known	74_37	silent	41.94	36	26	SNP	1.000	A	A	54040157	G	A	54040157	2	1	76	1	0	0	0	0	0	0	0	1	5247	933	33	3		3	ERLEC1	2	54040157	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	21727530	54040157	189159216	26	19876											
SNRNP200	23020	genome.wustl.edu	37	chr2	96944361	96944361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacgtccatctcgtcctcGatgctgatgcacttggactg	6	11	10	14	3	1	1	0	1	1	0	5	3	3	2	3	1	2	2	3	1	0	1	rs142524062		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:96944361G>A	ENST00000323853.5	-	38	5489	c.5412C>T	c.(5410-5412)atC>atT	p.I1804I	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1804					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.I1804I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTCGTCCTCGATGCTGATGC	0.582																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,4406		0,0,2203	105	96	99		5412	-8.4	0.7	2	dbSNP_134	99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SNRNP200	NM_014014.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1804/2137	96944361	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5412C>T	2.37:g.96944361G>A			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I1804	ENST00000323853.5	37	c.5412	CCDS2020.1	2																																																																																			SNRNP200	-	NULL	ENSG00000144028		0.582	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	-	0	38	0	G	NM_014014		96944361	-1	tier1	rs142524062	no_errors	ENST00000323853	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.052	A	A	96944361	G	A	96944361	2	1	76	1	0	0	0	0	0	0	0	1	14897	1048	37	1		1	SNRNP200	2	96944361	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	42904204	96944361	146255012	27	19877											
RGPD3	653489	genome.wustl.edu	37	chr2	107074073	107074073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttccaattcataaagaaGacccagaaatctgtgagctc	14	11	6	10	0	3	4	1	1	2	3	5	4	4	4	2	0	1	1	2	0	5	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:107074073G>A	ENST00000409886.3	-	3	289	c.202C>T	c.(202-204)Ctt>Ttt	p.L68F	RGPD3_ENST00000304514.7_Missense_Mutation_p.L68F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	68					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCATAAAGAAGACCCAGAAAT	0.343																																																	0													2	2	2					2																	107074073		502	1172	1674	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.202C>T	2.37:g.107074073G>A	ENSP00000386588:p.Leu68Phe		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L68F	ENST00000409886.3	37	c.202	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	6.552	0.470208	0.12461	.	.	ENSG00000153165	ENST00000409886;ENST00000304514;ENST00000440524	T;T	0.66460	-0.21;-0.21	2.36	1.29	0.21616	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.57489	0.2057	L	0.34521	1.04	0.26609	N	0.972877	P	0.38922	0.651	P	0.44359	0.447	T	0.50004	-0.8878	9	0.38643	T	0.18	-20.7973	7.7928	0.29129	0.0:0.0:0.7535:0.2465	.	68	A6NKT7	RGPD3_HUMAN	F	68;68;11	ENSP00000386588:L68F;ENSP00000303659:L68F	ENSP00000303659:L68F	L	-	1	0	RGPD3	106440505	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	4.715000	0.61909	1.318000	0.45170	0.194000	0.17425	CTT	RGPD3	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000153165		0.343	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0	164	0	G	XM_929931		107074073	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	23.70	103	32	SNP	1.000	A	A	107074073	G	A	107074073	3	1	76	1	0	0	0	0	1	0	0	0	13332	942	33	3	5158	3	RGPD3	2	107074073	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	10129712	107074073	136125300	28	19878											
MYO7B	4648	genome.wustl.edu	37	chr2	128327486	128327486	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccaaccccatcctggaggGtaagcatcactctgggaccc	10	6	10	15	0	2	0	1	0	1	0	3	2	3	2	5	3	3	2	5	3	2	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:128327486G>A	ENST00000409816.2	+	5	624		c.e5+1		MYO7B_ENST00000389524.4_Splice_Site|MYO7B_ENST00000428314.1_Splice_Site			Q6PIF6	MYO7B_HUMAN	myosin VIIB							extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATCCTGGAGGGTAAGCATCAC	0.617																																																	0													31	33	32					2																	128327486		1957	4132	6089	SO:0001630	splice_region_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.592+1G>A	2.37:g.128327486G>A			Q14786|Q8TEE1	Splice_Site	SNP	-	e5+1	ENST00000409816.2	37	c.592+1	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179957	0.78564	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7532	0.96277	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO7B	128043956	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.670000	0.83925	2.738000	0.93877	0.555000	0.69702	.	MYO7B	-	-	ENSG00000169994		0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3		0	85	0	G	XM_291001	Intron	128327486	1			no_errors	ENST00000389524	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	A	A	128327486	G	A	128327486	5	1	76	1	0	0	0	0	0	0	1	0	10121	1275	44	3	611	3	MYO7B	2	128327486	Splice_Site	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	21253413	128327486	114871887	29	19879											
GCG	2641	genome.wustl.edu	37	chr2	163000642	163000642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaccatcagcatgtctgCggccaagttcttcaacaatg	13	9	8	11	1	4	1	2	0	2	1	4	1	4	1	2	1	4	2	2	1	5	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:163000642C>T	ENST00000418842.2	-	5	685	c.431G>A	c.(430-432)cGc>cAc	p.R144H	GCG_ENST00000375497.3_Missense_Mutation_p.R144H	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	144					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AGCATGTCTGCGGCCAAGTTC	0.373																																																	0													115	111	112					2																	163000642		1899	4123	6022	SO:0001583	missense	0				CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"Endogenous ligands"	4191	protein-coding gene	gene with protein product	"glicentin-related polypeptide", "glucagon-like peptide 1", "glucagon-like peptide 2", "preproglucagon"	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.431G>A	2.37:g.163000642C>T	ENSP00000387662:p.Arg144His		A6NN65|Q53TP6	Missense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP	p.R144H	ENST00000418842.2	37	c.431	CCDS46439.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.133765	0.94517	.	.	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.55234	0.53;0.53	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000003	T	0.76912	0.4054	M	0.84846	2.72	0.47276	D	0.999371	D	0.89917	1.0	D	0.76575	0.988	T	0.79899	-0.1608	10	0.87932	D	0	-19.9316	18.9257	0.92544	0.0:1.0:0.0:0.0	.	144	P01275	GLUC_HUMAN	H	144	ENSP00000387662:R144H;ENSP00000364647:R144H	ENSP00000364647:R144H	R	-	2	0	GCG	162708888	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.502000	0.53332	2.717000	0.92951	0.650000	0.86243	CGC	GCG	-	NULL	ENSG00000115263		0.373	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCG	HGNC	protein_coding	OTTHUMT00000332860.1	-	0	43	0	C	NM_002054		163000642	-1	tier1	-	no_errors	ENST00000375497	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	163000642	C	T	163000642	3	4	76	1	0	0	0	0	1	0	0	0	6315	768	27	1	119	1	GCG	2	163000642	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	34673156	163000642	80198731	30	19880											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098975	178098975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctatatcttgcctccAaagtatgtcaatcaaatcca	15	12	4	10	0	4	1	2	0	2	1	6	1	6	1	3	0	1	1	3	0	7	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:178098975A>T	ENST00000397062.3	-	2	624	c.70T>A	c.(70-72)Tgg>Agg	p.W24R	NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8R|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8R	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W24R(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTGCCTCCAAAGTATGTCA	0.348			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	2	Substitution - Missense(2)	urinary_tract(1)|oesophagus(1)											54	48	50					2																	178098975		1840	4093	5933	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.70T>A	2.37:g.178098975A>T	ENSP00000380252:p.Trp24Arg		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.W24R	ENST00000397062.3	37	c.70	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	A	19.52	3.842230	0.71488	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.62258	0.2413	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69461	-0.5139	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	8;8;8;24	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	R	8;24;8;8;8;8;8	ENSP00000380253:W8R;ENSP00000380252:W24R;ENSP00000411575:W8R;ENSP00000391590:W8R;ENSP00000400073:W8R;ENSP00000412191:W8R;ENSP00000410015:W8R	ENSP00000380252:W24R	W	-	1	0	NFE2L2	177807221	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	TGG	NFE2L2	-	NULL	ENSG00000116044		0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	31	0	A	NM_006164		178098975	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	T	T	178098975	A	T	178098975	3	4	76	1	0	0	0	0	1	0	0	0	10407	130	5	5	1763	5	NFE2L2	2	178098975	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	15098333	178098975	65100398	31	19881											
TTN	7273	genome.wustl.edu	37	chr2	179664274	179664274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaaggggagtgtcttatgGgcgatggggactgctgccga	7	8	20	6	2	1	0	0	0	1	0	1	5	1	3	1	6	2	1	1	6	2	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:179664274G>C	ENST00000591111.1	-	6	1078	c.854C>G	c.(853-855)cCc>cGc	p.P285R	TTN_ENST00000342992.6_Missense_Mutation_p.P285R|TTN_ENST00000589042.1_Missense_Mutation_p.P285R|TTN_ENST00000342175.6_Missense_Mutation_p.P285R|TTN_ENST00000359218.5_Missense_Mutation_p.P285R|TTN_ENST00000360870.5_Missense_Mutation_p.P285R|TTN_ENST00000460472.2_Missense_Mutation_p.P285R			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCTTATGGGCGATGGGGA	0.562																																																	0													86	84	85					2																	179664274		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.854C>G	2.37:g.179664274G>C	ENSP00000465570:p.Pro285Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P285R	ENST00000591111.1	37	c.854		2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542763	0.65198	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.84223	-1.58;-1.55;-1.56;-1.58;-1.82	5.86	5.86	0.93980	.	.	.	.	.	D	0.91626	0.7354	L	0.56769	1.78	0.48288	D	0.999627	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;1.0	D	0.91610	0.5302	9	0.87932	D	0	.	20.1828	0.98210	0.0:0.0:1.0:0.0	.	285;285;285;285;285	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	285	ENSP00000343764:P285R;ENSP00000434586:P285R;ENSP00000340554:P285R;ENSP00000352154:P285R;ENSP00000354117:P285R	ENSP00000340554:P285R	P	-	2	0	TTN	179372519	1.000000	0.71417	0.528000	0.27938	0.549000	0.35272	9.600000	0.98282	2.767000	0.95098	0.561000	0.74099	CCC	TTN	-	NULL	ENSG00000155657		0.562	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	42	0	G	NM_133378		179664274	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	C	C	179664274	G	C	179664274	3	2	76	1	0	0	0	0	1	0	0	0	16784	1232	43	5	110562	5	TTN	2	179664274	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	1565299	179664274	63535099	32	19882											
DNAH7	56171	genome.wustl.edu	37	chr2	196709863	196709863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatatctcttcctttgcaCaaagttgtccactctttagt	8	16	7	10	0	2	0	0	0	2	0	5	1	4	1	2	1	1	2	2	1	3	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:196709863C>A	ENST00000312428.6	-	47	8908	c.8808G>T	c.(8806-8808)ttG>ttT	p.L2936F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2936					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCTTTGCACAAAGTTGTCC	0.388																																																	0													132	118	122					2																	196709863		1846	4097	5943	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8808G>T	2.37:g.196709863C>A	ENSP00000311273:p.Leu2936Phe		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L2936F	ENST00000312428.6	37	c.8808	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391130	0.25118	.	.	ENSG00000118997	ENST00000312428	T	0.22945	1.93	5.8	-0.00957	0.14000	.	0.502966	0.17478	N	0.172836	T	0.19886	0.0478	L	0.58354	1.805	0.33380	D	0.574744	B	0.15473	0.013	B	0.21546	0.035	T	0.35126	-0.9801	10	0.09590	T	0.72	.	7.6268	0.28216	0.0:0.3298:0.4235:0.2466	.	2936	Q8WXX0	DYH7_HUMAN	F	2936	ENSP00000311273:L2936F	ENSP00000311273:L2936F	L	-	3	2	DNAH7	196418108	0.012000	0.17670	0.461000	0.27105	0.980000	0.70556	-0.249000	0.08842	0.052000	0.16007	-0.133000	0.14855	TTG	DNAH7	-	NULL	ENSG00000118997		0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	94	0	C	NM_018897		196709863	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	10.13	71	8	SNP	0.002	A	A	196709863	C	A	196709863	3	1	76	1	0	0	0	0	1	0	0	0	4620	477	17	3	3342	3	DNAH7	2	196709863	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	17045589	196709863	46489510	33	19883											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209150469	209150469	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacctccgagcttgcacAtattgtagaaaaatagcctt	13	10	9	9	1	0	2	0	0	0	2	1	4	1	2	3	1	3	3	3	1	5	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:209150469A>T	ENST00000264380.4	+	6	791	c.633A>T	c.(631-633)acA>acT	p.T211T	PIKFYVE_ENST00000407449.1_Silent_p.T211T|PIKFYVE_ENST00000392202.3_Silent_p.T114T|PIKFYVE_ENST00000308862.6_Silent_p.T125T	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	211					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAGCTTGCACATATTGTAGAA	0.358																																																	0													105	103	104					2																	209150469		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.633A>T	2.37:g.209150469A>T			Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	NULL	p.H154L	ENST00000264380.4	37	c.461	CCDS2382.1	2																																																																																			PIKFYVE	-	NULL	ENSG00000115020		0.358	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	-	0	31	0	A	NM_015040		209150469	1	tier1	-	no_errors	ENST00000443896	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.929	T	T	209150469	A	T	209150469	2	4	76	1	0	0	0	0	0	0	0	1	11963	204	8	5		5	PIKFYVE	2	209150469	Silent	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	12440606	209150469	34048904	34	19884											
FAM134A	79137	genome.wustl.edu	37	chr2	220044907	220044907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatacctggctgagagctgGctcaccttccagattcacct	9	10	9	13	0	2	3	2	1	0	3	3	4	3	3	4	2	2	3	4	2	1	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:220044907G>T	ENST00000430297.2	+	4	631	c.495G>T	c.(493-495)tgG>tgT	p.W165C	CNPPD1_ENST00000409789.1_5'Flank	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	165						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGAGCTGGCTCACCTTCC	0.582																																																	0													89	86	87					2																	220044907		2203	4300	6503	SO:0001583	missense	0			AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 17"	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.495G>T	2.37:g.220044907G>T	ENSP00000395249:p.Trp165Cys		Q6P1P5|Q9H0K7	Missense_Mutation	SNP	pfam_Reticulon	p.W165C	ENST00000430297.2	37	c.495	CCDS2434.1	2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978449	0.74360	.	.	ENSG00000144567	ENST00000430297	T	0.76060	-0.99	4.53	4.53	0.55603	.	0.123680	0.64402	D	0.000014	D	0.83834	0.5340	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.86032	0.1514	10	0.87932	D	0	-6.0165	17.4845	0.87683	0.0:0.0:1.0:0.0	.	165	Q8NC44	F134A_HUMAN	C	165	ENSP00000395249:W165C	ENSP00000395249:W165C	W	+	3	0	FAM134A	219753151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.654000	0.61469	2.342000	0.79632	0.561000	0.74099	TGG	FAM134A	-	pfam_Reticulon	ENSG00000144567		0.582	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM134A	HGNC	protein_coding	OTTHUMT00000336147.2		0	57	0	G	NM_024293		220044907	1			no_errors	ENST00000430297	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	220044907	G	T	220044907	3	4	76	1	0	0	0	0	1	0	0	0	5464	1212	42	3	509	3	FAM134A	2	220044907	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	10894438	220044907	23154466	35	19885											
ACSL3	2181	genome.wustl.edu	37	chr2	223806251	223806251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaattccagtaaaaattcGtttgagtcctgaaccgtgga	13	12	9	7	2	0	3	0	3	0	0	3	4	2	4	3	1	1	2	3	1	5	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:223806251G>T	ENST00000357430.3	+	17	2573	c.2042G>T	c.(2041-2043)cGt>cTt	p.R681L	ACSL3_ENST00000392066.3_Missense_Mutation_p.R681L	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	681					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GTAAAAATTCGTTTGAGTCCT	0.383			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													71	73	72					2																	223806251		2203	4300	6503	SO:0001583	missense	0			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.2042G>T	2.37:g.223806251G>T	ENSP00000350012:p.Arg681Leu		Q60I92|Q8IUM9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R681L	ENST00000357430.3	37	c.2042	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214314	0.79352	.	.	ENSG00000123983	ENST00000357430;ENST00000392066	T;T	0.10192	2.9;2.9	5.79	5.79	0.91817	.	0.104246	0.64402	D	0.000001	T	0.13884	0.0336	L	0.42487	1.325	0.80722	D	1	P	0.39376	0.67	B	0.40329	0.326	T	0.07809	-1.0753	10	0.18276	T	0.48	-15.325	20.0411	0.97590	0.0:0.0:1.0:0.0	.	681	O95573	ACSL3_HUMAN	L	681	ENSP00000350012:R681L;ENSP00000375918:R681L	ENSP00000350012:R681L	R	+	2	0	ACSL3	223514495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.398000	0.73244	2.739000	0.93911	0.655000	0.94253	CGT	ACSL3	-	NULL	ENSG00000123983		0.383	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2		0	52	0	G	NM_004457		223806251	1			no_errors	ENST00000357430	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	223806251	G	T	223806251	3	4	76	1	0	0	0	0	1	0	0	0	178	1145	40	2	2096	2	ACSL3	2	223806251	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	3761344	223806251	19393122	36	19886											
KIAA1486	57624	genome.wustl.edu	37	chr2	226378162	226378162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgggattcatgacaatGcctgctcctcaggacagact	10	9	10	12	1	2	2	2	1	0	1	3	4	3	4	2	2	2	2	2	2	1	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr2:226378162G>A	ENST00000272907.6	+	3	710	c.297G>A	c.(295-297)atG>atA	p.M99I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	99					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCATGACAATGCCTGCTCCTC	0.527																																																	0													76	83	81					2																	226378162		2089	4216	6305	SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.297G>A	2.37:g.226378162G>A	ENSP00000272907:p.Met99Ile		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.M99I	ENST00000272907.6	37	c.297	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645384	0.87859	.	.	ENSG00000144460	ENST00000272907	T	0.45276	0.9	5.41	5.41	0.78517	.	0.049208	0.85682	D	0.000000	T	0.62109	0.2401	L	0.60455	1.87	0.80722	D	1	D	0.53745	0.962	D	0.66716	0.946	T	0.60762	-0.7199	10	0.49607	T	0.09	-20.2489	19.1985	0.93699	0.0:0.0:1.0:0.0	.	99	Q9P242	K1486_HUMAN	I	99	ENSP00000272907:M99I	ENSP00000272907:M99I	M	+	3	0	KIAA1486	226086406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.532000	0.85374	0.563000	0.77884	ATG	NYAP2	-	NULL	ENSG00000144460		0.527	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0	36	0	G	NM_020864		226378162	1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	226378162	G	A	226378162	3	1	76	1	0	0	0	0	1	0	0	0	8264	1319	46	3	303	3	KIAA1486	2	226378162	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2571911	226378162	16821211	37	19887											
ITPR1	3708	genome.wustl.edu	37	chr3	4703790	4703790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcacctctcctgtgaaggagGataaggaagcatttgccata	12	9	11	9	0	1	1	0	1	1	0	2	4	1	4	3	3	2	2	3	3	4	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:4703790G>C	ENST00000443694.2	+	12	1231	c.1231G>C	c.(1231-1233)Gat>Cat	p.D411H	ITPR1_ENST00000357086.4_Missense_Mutation_p.D426H|ITPR1_ENST00000354582.6_Missense_Mutation_p.D426H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.D411H|ITPR1_ENST00000456211.2_Missense_Mutation_p.D411H|ITPR1_ENST00000423119.2_Missense_Mutation_p.D426H			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	426	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TGTGAAGGAGGATAAGGAAGC	0.468																																																	0													131	126	128					3																	4703790		1926	4131	6057	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.1231G>C	3.37:g.4703790G>C	ENSP00000401671:p.Asp411His		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.D411H	ENST00000443694.2	37	c.1231	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665903	0.88251	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.23	5.23	0.72850	MIR motif (1);MIR (2);	0.000000	0.85682	D	0.000000	D	0.95223	0.8451	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.994	D	0.94941	0.8091	10	0.45353	T	0.12	.	18.8419	0.92188	0.0:0.0:1.0:0.0	.	411;426;426	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	H	426;411;426;426;426;411;411	ENSP00000306253:D411H;ENSP00000346595:D426H;ENSP00000405934:D426H;ENSP00000349597:D426H;ENSP00000397885:D411H;ENSP00000401671:D411H	ENSP00000306253:D411H	D	+	1	0	ITPR1	4678790	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	9.787000	0.99055	2.451000	0.82905	0.650000	0.86243	GAT	ITPR1	-	pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	ENSG00000150995		0.468	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0	93	0	G	NM_002222		4703790	1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	50.79	31	32	SNP	1.000	C	C	4703790	G	C	4703790	3	2	76	1	0	0	0	0	1	0	0	0	7947	1174	41	5	1326	5	ITPR1	3	4703790	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		4703790	193318640	38	19888											
GALNTL2	117248	genome.wustl.edu	37	chr3	16254213	16254213	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcattgctgagacctggctGgggtcattcaaagaaacctt	10	10	11	10	1	2	2	2	1	0	2	2	3	2	2	2	3	2	3	2	3	2	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:16254213G>T	ENST00000339732.5	+	6	1838	c.1335G>T	c.(1333-1335)ctG>ctT	p.L445L	GALNT15_ENST00000437509.1_Silent_p.L445L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	445					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGACCTGGCTGGGGTCATTCA	0.562																																																	0													101	100	100					3																	16254213		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"Glycosyltransferase family 2 domain containing"	21531	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 15"	615131	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1335G>T	3.37:g.16254213G>T			A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L445	ENST00000339732.5	37	c.1335	CCDS33711.1	3																																																																																			GALNT15	-	NULL	ENSG00000131386		0.562	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2		0	50	0	G	NM_054110		16254213	1			no_errors	ENST00000339732	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	16254213	G	T	16254213	2	4	76	1	0	0	0	0	0	0	0	1	6247	1335	47	3		3	GALNTL2	3	16254213	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	11550423	16254213	181768217	39	19889											
SETD2	29072	genome.wustl.edu	37	chr3	47162096	47162096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaaatgggatccatcctGttgatcccaattctcctctt	10	14	6	11	0	2	2	0	2	2	0	6	3	5	3	4	1	0	1	4	1	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:47162096G>T	ENST00000409792.3	-	3	4072	c.4030C>A	c.(4030-4032)Cag>Aag	p.Q1344K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1344					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATCCATCCTGTTGATCCCAA	0.448			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													88	89	89					3																	47162096		2203	4300	6503	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4030C>A	3.37:g.47162096G>T	ENSP00000386759:p.Gln1344Lys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.Q1344K	ENST00000409792.3	37	c.4030	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	5.827	0.336825	0.11013	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.87491	-2.26;1.61	5.32	5.32	0.75619	.	0.890356	0.09625	N	0.777066	T	0.75781	0.3896	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.57820	-0.7745	9	.	.	.	.	13.2802	0.60210	0.0:0.2835:0.7165:0.0	.	1344;1344	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	1344;1344;1344;1300	ENSP00000386759:Q1344K;ENSP00000416401:Q1300K	.	Q	-	1	0	SETD2	47137100	0.000000	0.05858	0.191000	0.23289	0.533000	0.34776	0.842000	0.27627	2.770000	0.95276	0.563000	0.77884	CAG	SETD2	-	NULL	ENSG00000181555		0.448	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	-	0	50	0	G	NM_014159		47162096	-1	tier1	-	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.070	T	T	47162096	G	T	47162096	3	4	76	1	0	0	0	0	1	0	0	0	14176	1386	48	3	3740	3	SETD2	3	47162096	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	30907883	47162096	150860334	40	19890											
IFRD2	7866	genome.wustl.edu	37	chr3	50327194	50327195	+	Splice_Site	DEL	CT	CT	-																															aggccaagggcagaagcacaCtgttgggagaagggcaatgc																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:50327194_50327195delCT	ENST00000429673.2	-	6	738		c.e6-1		IFRD2_ENST00000436390.1_Splice_Site|IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000417626.2_Splice_Site			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2							nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGAAGCACACTGTTGGGAGAA	0.599																																																	0																																										SO:0001630	splice_region_variant	0			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.739-1AG>-	3.37:g.50327194_50327195delCT			Q9BVB4|Q9UJ88	Splice_Site	DEL	-	e9-1	ENST00000429673.2	37	c.1045-2_1045-1	CCDS46831.1	3																																																																																			IFRD2	-	-	ENSG00000214706		0.599	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding			0	39	0	CT	NM_006764	Intron	50327195	-1	tier1		no_errors	ENST00000336089	ensembl	human	known	74_37	splice_site_del	53.85	12	14	DEL	1.000:1.000	-	-	50327195	CT	-	50327194	8	5	76	1	0	1	0	1	0	0	1	0	7581	579	20	0	810	0	IFRD2	3	50327194	Splice_Site	DEL	CT	TCGA-L5-A88Z-01A-11D-A36J-09	3165098	50327194	147695236	41	19891											
PBRM1	55193	genome.wustl.edu	37	chr3	52675972	52675972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaacctaatgcctaccaGctaaagcagcatcttcttca	14	10	4	13	0	4	0	2	0	2	0	4	0	4	0	3	0	6	3	3	0	6	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:52675972G>T	ENST00000296302.7	-	10	1086	c.1085C>A	c.(1084-1086)gCt>gAt	p.A362D	PBRM1_ENST00000337303.4_Missense_Mutation_p.A362D|PBRM1_ENST00000356770.4_Missense_Mutation_p.A330D|PBRM1_ENST00000394830.3_Missense_Mutation_p.A362D|PBRM1_ENST00000410007.1_Missense_Mutation_p.A362D|PBRM1_ENST00000409767.1_Missense_Mutation_p.A362D|PBRM1_ENST00000409114.3_Missense_Mutation_p.A362D|PBRM1_ENST00000409057.1_Missense_Mutation_p.A362D			Q86U86	PB1_HUMAN	polybromo 1	362					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGCCTACCAGCTAAAGCAGC	0.388			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													293	277	282					3																	52675972		2203	4300	6503	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1085C>A	3.37:g.52675972G>T	ENSP00000296302:p.Ala362Asp		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.A362D	ENST00000296302.7	37	c.1085		3	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798964	0.50208	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.38;1.33;1.34;1.33;1.79;1.33;1.34;1.35	5.71	5.71	0.89125	Bromodomain (1);	0.300926	0.37955	N	0.001878	T	0.21427	0.0516	N	0.08118	0	0.54753	D	0.999984	P;P;P;P;B;P;P;P;P	0.43352	0.804;0.634;0.782;0.589;0.386;0.804;0.704;0.763;0.557	B;B;B;B;B;B;B;B;B	0.42386	0.229;0.178;0.299;0.114;0.124;0.386;0.078;0.229;0.167	T	0.06899	-1.0801	10	0.10902	T	0.67	-38.6023	14.6758	0.68978	0.0:0.0:0.8548:0.1452	.	362;362;362;362;362;362;362;330;362	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	D	330;362;362;362;362;362;362;362;362;306	ENSP00000349213:A330D;ENSP00000378307:A362D;ENSP00000296302:A362D;ENSP00000338302:A362D;ENSP00000386593:A362D;ENSP00000386529:A362D;ENSP00000386643:A362D;ENSP00000386601:A362D;ENSP00000387775:A362D;ENSP00000397662:A306D	ENSP00000296302:A362D	A	-	2	0	PBRM1	52651012	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.886000	0.69743	2.700000	0.92200	0.650000	0.86243	GCT	PBRM1	-	superfamily_Bromodomain	ENSG00000163939		0.388	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0	101	0	G	NM_018165		52675972	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	7.35	62	5	SNP	1.000	T	T	52675972	G	T	52675972	3	4	76	1	0	0	0	0	1	0	0	0	11530	971	34	3	3899	3	PBRM1	3	52675972	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2348778	52675972	145346458	42	19892											
GTF2E1	2960	genome.wustl.edu	37	chr3	120500159	120500159	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaagatgacgagtttGaagaagtagcagatgacccc	16	6	13	6	1	0	7	0	3	0	4	0	9	0	8	2	1	1	3	2	1	5	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:120500159G>T	ENST00000283875.5	+	5	1255	c.1162G>T	c.(1162-1164)Gaa>Taa	p.E388*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	388	Asp/Glu-rich (acidic).				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TGACGAGTTTGAAGAAGTAGC	0.537																																																	0													175	169	171					3																	120500159		2203	4300	6503	SO:0001587	stop_gained	0			S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"General transcription factors"	4650	protein-coding gene	gene with protein product		189962	"general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.1162G>T	3.37:g.120500159G>T	ENSP00000283875:p.Glu388*		Q16103	Nonsense_Mutation	SNP	pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu	p.E388*	ENST00000283875.5	37	c.1162	CCDS3002.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.847740	0.97023	.	.	ENSG00000153767	ENST00000283875	.	.	.	5.12	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-39.9907	12.3875	0.55340	0.0818:0.0:0.9182:0.0	.	.	.	.	X	388	.	ENSP00000283875:E388X	E	+	1	0	GTF2E1	121982849	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.145000	0.94634	1.385000	0.46445	0.650000	0.86243	GAA	GTF2E1	-	pfam_TFIIE_asu_C	ENSG00000153767		0.537	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2E1	HGNC	protein_coding	OTTHUMT00000356770.1		0	27	0	G	NM_005513		120500159	1			no_errors	ENST00000283875	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T	T	120500159	G	T	120500159	4	4	76	1	0	0	0	0	0	1	0	0	6883	1291	45	3	1176	3	GTF2E1	3	120500159	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	67824187	120500159	77522271	43	19893											
STAG1	10274	genome.wustl.edu	37	chr3	136141419	136141419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattctacgtgtttctccaCaacaaacttaatctgtttta	11	17	4	9	1	3	1	0	1	3	0	4	1	3	1	1	0	3	2	1	0	5	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:136141419C>A	ENST00000383202.2	-	19	2126	c.1870G>T	c.(1870-1872)Gtg>Ttg	p.V624L	STAG1_ENST00000434713.2_Missense_Mutation_p.V398L|STAG1_ENST00000536929.1_Missense_Mutation_p.V208L|STAG1_ENST00000236698.5_Missense_Mutation_p.V624L	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	624					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGTTTCTCCACAACAAACTTA	0.318																																																	0													96	97	97					3																	136141419		2202	4300	6502	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1870G>T	3.37:g.136141419C>A	ENSP00000372689:p.Val624Leu		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.V624L	ENST00000383202.2	37	c.1870	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243208	0.79912	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.65	5.65	0.86999	Armadillo-type fold (1);	0.064937	0.64402	D	0.000008	T	0.26593	0.0650	L	0.60957	1.885	0.80722	D	1	B;P;B	0.36753	0.144;0.568;0.144	B;B;B	0.35770	0.196;0.21;0.196	T	0.01715	-1.1289	10	0.37606	T	0.19	.	19.7806	0.96414	0.0:1.0:0.0:0.0	.	641;624;624	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	L	624;624;398;208	ENSP00000372689:V624L;ENSP00000236698:V624L;ENSP00000404396:V398L;ENSP00000445787:V208L	ENSP00000236698:V624L	V	-	1	0	STAG1	137624109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.668000	0.90789	0.644000	0.83932	GTG	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.318	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	-	0	44	0	C	NM_005862		136141419	-1	tier1	-	no_errors	ENST00000383202	ensembl	human	known	74_37	missense	56.41	34	44	SNP	1.000	A	A	136141419	C	A	136141419	3	1	76	1	0	0	0	0	1	0	0	0	15289	478	17	3	1970	3	STAG1	3	136141419	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	15641260	136141419	61881011	44	19894											
GHSR	2693	genome.wustl.edu	37	chr3	172165753	172165753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggtgaccaccaccttggCccggagtgggaagcagatgg	8	7	15	11	1	0	2	0	1	0	1	0	4	0	4	4	5	1	1	4	5	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr3:172165753C>T	ENST00000241256.2	-	1	493	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	GHSR_ENST00000427970.1_Missense_Mutation_p.A151T	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	151					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ACCACCTTGGCCCGGAGTGGG	0.627																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0													55	54	55					3																	172165753		2203	4300	6503	SO:0001583	missense	0			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"GPCR / Class A : Ghrelin receptors"	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.451G>A	3.37:g.172165753C>T	ENSP00000241256:p.Ala151Thr		Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn	p.A151T	ENST00000241256.2	37	c.451	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756509	0.89843	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.19669	2.13;2.13	5.58	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.57802	-0.7748	10	0.56958	D	0.05	-31.2747	15.9864	0.80157	0.1357:0.8643:0.0:0.0	.	151;151	Q92847-2;Q92847	.;GHSR_HUMAN	T	151	ENSP00000241256:A151T;ENSP00000395344:A151T	ENSP00000241256:A151T	A	-	1	0	GHSR	173648447	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	7.786000	0.85741	1.361000	0.45981	0.455000	0.32223	GCC	GHSR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R	ENSG00000121853		0.627	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1	-	0	41	0	C	NM_004122		172165753	-1	tier1	-	no_errors	ENST00000241256	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T	T	172165753	C	T	172165753	3	4	76	1	0	0	0	0	1	0	0	0	6401	739	26	3	731	3	GHSR	3	172165753	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	36024334	172165753	25856677	45	19895											
SLIT2	9353	genome.wustl.edu	37	chr4	20525670	20525670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacccctttatttgtgactgCcatctcaagtggctagcgga	9	12	9	11	1	1	1	1	1	1	0	2	2	1	2	3	2	3	1	3	2	4	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:20525670C>T	ENST00000504154.1	+	14	1560	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	SLIT2_ENST00000503823.1_Silent_p.C436C|SLIT2_ENST00000503837.1_Silent_p.C440C|SLIT2_ENST00000273739.5_Silent_p.C440C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	436	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTGTGACTGCCATCTCAAGT	0.488																																																	0													113	116	115					4																	20525670		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1308C>T	4.37:g.20525670C>T			B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C436	ENST00000504154.1	37	c.1308	CCDS3426.1	4																																																																																			SLIT2	-	smart_Cys-rich_flank_reg_C	ENSG00000145147		0.488	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2		0	61	0	C			20525670	1			no_errors	ENST00000504154	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	20525670	C	T	20525670	2	4	76	1	0	0	0	0	0	0	0	1	14785	747	26	3		3	SLIT2	4	20525670	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09		20525670	170628606	46	19896											
NSUN7	79730	genome.wustl.edu	37	chr4	40778076	40778076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcttacaggacaaatctcGaagtcttgctgtccattctg	10	14	7	10	1	4	0	0	0	4	0	6	2	5	1	1	1	2	1	1	1	4	4	rs368809821		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:40778076G>A	ENST00000381782.2	+	7	1331	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	NSUN7_ENST00000316607.5_Missense_Mutation_p.R279Q|NSUN7_ENST00000463952.1_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	279							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GACAAATCTCGAAGTCTTGCT	0.348																																																	0								G	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	88	88	88		836	5.6	1	4		88	0,8596		0,0,4298	no	missense	NSUN7	NM_024677.4	43	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	279/719	40778076	1,12999	2202	4298	6500	SO:0001583	missense	0			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.836G>A	4.37:g.40778076G>A	ENSP00000371201:p.Arg279Gln		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.R279Q	ENST00000381782.2	37	c.836	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135702	0.77662	2.27E-4	0.0	ENSG00000179299	ENST00000381782;ENST00000316607	T;T	0.10382	2.88;2.88	5.61	5.61	0.85477	.	0.376793	0.26349	N	0.024896	T	0.21674	0.0522	L	0.56769	1.78	0.39661	D	0.970616	D;D	0.69078	0.997;0.993	P;P	0.56278	0.629;0.795	T	0.00934	-1.1509	10	0.28530	T	0.3	-11.3276	12.6054	0.56521	0.0763:0.0:0.9237:0.0	.	279;279	Q8NE18;Q8NE18-2	NSUN7_HUMAN;.	Q	279	ENSP00000371201:R279Q;ENSP00000319127:R279Q	ENSP00000319127:R279Q	R	+	2	0	NSUN7	40472833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.405000	0.66351	2.643000	0.89663	0.557000	0.71058	CGA	NSUN7	-	NULL	ENSG00000179299		0.348	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2		0	37	0	G	NM_024677		40778076	1			no_errors	ENST00000381782	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	40778076	G	A	40778076	3	1	76	1	0	0	0	0	1	0	0	0	10722	1058	37	1	858	1	NSUN7	4	40778076	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	20252406	40778076	150376200	47	19897											
CEP135	9662	genome.wustl.edu	37	chr4	56885624	56885624	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgaatcattgttggctacaAacagagataaagaatttcat	16	12	7	6	1	2	2	2	0	0	2	3	4	2	2	0	1	2	2	0	1	6	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:56885624A>T	ENST00000257287.4	+	23	3242	c.3118A>T	c.(3118-3120)Aac>Tac	p.N1040Y		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1040					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GTTGGCTACAAACAGAGATAA	0.358																																																	0													82	78	79					4																	56885624		2203	4300	6503	SO:0001583	missense	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3118A>T	4.37:g.56885624A>T	ENSP00000257287:p.Asn1040Tyr		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_EB1_C	p.N1040Y	ENST00000257287.4	37	c.3118	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498266	0.85069	.	.	ENSG00000174799	ENST00000257287	T	0.14022	2.54	4.96	4.96	0.65561	.	0.100500	0.64402	D	0.000004	T	0.31734	0.0806	M	0.68952	2.095	0.49389	D	0.999781	D	0.56035	0.974	P	0.59056	0.851	T	0.03619	-1.1019	10	0.59425	D	0.04	.	14.9832	0.71327	1.0:0.0:0.0:0.0	.	1040	Q66GS9	CP135_HUMAN	Y	1040	ENSP00000257287:N1040Y	ENSP00000257287:N1040Y	N	+	1	0	CEP135	56580381	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.135000	0.89608	2.007000	0.58848	0.529000	0.55759	AAC	CEP135	-	NULL	ENSG00000174799		0.358	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	-	0	77	0	A	NM_025009		56885624	1	tier1	-	no_errors	ENST00000257287	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	56885624	A	T	56885624	3	4	76	1	0	0	0	0	1	0	0	0	3254	14	1	5	3204	5	CEP135	4	56885624	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	16107548	56885624	134268652	48	19898											
BDH2	56898	genome.wustl.edu	37	chr4	104012408	104012408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgagaagtcccagtctttctCctcacaatccaggacagttc	10	10	7	14	1	3	1	1	0	2	1	7	3	5	2	3	1	0	1	3	1	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:104012408C>G	ENST00000296424.4	-	5	403	c.283G>C	c.(283-285)Gag>Cag	p.E95Q		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	95				E -> V (in Ref. 4; BAF82849). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CAGTCTTTCTCCTCACAATCC	0.423																																																	0													122	104	110					4																	104012408		2203	4300	6503	SO:0001583	missense	0			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	32389	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 15C, member 1"		"dehydrogenase/reductase (SDR family) member 6"	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.283G>C	4.37:g.104012408C>G	ENSP00000296424:p.Glu95Gln		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.E95Q	ENST00000296424.4	37	c.283	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	C	29.0	4.964801	0.92791	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;D;D	0.88277	0.93;-2.36;-2.36	4.8	4.8	0.61643	NAD(P)-binding domain (1);	0.096695	0.64402	D	0.000001	D	0.90417	0.7000	L	0.45228	1.405	0.80722	D	1	D	0.67145	0.996	P	0.55824	0.785	D	0.91665	0.5345	10	0.72032	D	0.01	.	17.0029	0.86385	0.0:1.0:0.0:0.0	.	95	Q9BUT1	BDH2_HUMAN	Q	95	ENSP00000296424:E95Q;ENSP00000427442:E95Q;ENSP00000422891:E95Q	ENSP00000296424:E95Q	E	-	1	0	BDH2	104231857	1.000000	0.71417	0.975000	0.42487	0.983000	0.72400	7.062000	0.76706	2.355000	0.79922	0.591000	0.81541	GAG	BDH2	-	pfam_DH_sc/Rdtase_SDR	ENSG00000164039		0.423	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2		0	71	0	C	NM_020139		104012408	-1			no_errors	ENST00000296424	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G	G	104012408	C	G	104012408	3	3	76	1	0	0	0	0	1	0	0	0	1392	864	30	5	478	5	BDH2	4	104012408	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	47126784	104012408	87141868	49	19899											
TET2	54790	genome.wustl.edu	37	chr4	106197248	106197248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctggatcctgacattgggGgagtggccgtggctccaact	6	11	14	10	1	1	1	0	1	1	0	3	3	3	3	3	5	1	1	3	5	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:106197248G>A	ENST00000540549.1	+	11	6441	c.5581G>A	c.(5581-5583)Gga>Aga	p.G1861R	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.G1861R|TET2_ENST00000513237.1_Missense_Mutation_p.G1882R			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1861					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGACATTGGGGGAGTGGCCGT	0.542			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													52	50	50					4																	106197248		692	1591	2283	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5581G>A	4.37:g.106197248G>A	ENSP00000442788:p.Gly1861Arg		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.G1861R	ENST00000540549.1	37	c.5581	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931368	0.92389	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.15834	2.39;2.39;2.39	5.33	5.33	0.75918	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.48390	0.1497	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54125	-0.8340	9	0.87932	D	0	-12.5329	19.031	0.92957	0.0:0.0:1.0:0.0	.	1882;1861	E7EQS8;Q6N021	.;TET2_HUMAN	R	1861;1882;1861	ENSP00000442788:G1861R;ENSP00000425443:G1882R;ENSP00000369351:G1861R	ENSP00000369351:G1861R	G	+	1	0	TET2	106416697	1.000000	0.71417	0.985000	0.45067	0.994000	0.84299	9.204000	0.95041	2.477000	0.83638	0.591000	0.81541	GGA	TET2	-	NULL	ENSG00000168769		0.542	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0	30	0	G	NM_017628		106197248	1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	A	A	106197248	G	A	106197248	3	1	76	1	0	0	0	0	1	0	0	0	15817	1233	43	3	5704	3	TET2	4	106197248	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2184840	106197248	84957028	50	19900											
COL25A1	84570	genome.wustl.edu	37	chr4	109862572	109862572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcagagagaaacccatGattgattttaggaaacacca	17	8	8	8	0	1	4	1	2	0	2	1	6	1	5	2	1	3	1	2	1	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:109862572G>T	ENST00000399132.1	-	9	1044	c.514C>A	c.(514-516)Cat>Aat	p.H172N	COL25A1_ENST00000399126.1_Missense_Mutation_p.H172N|COL25A1_ENST00000399127.1_Intron	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGAAACCCATGATTGATTTTA	0.408																																																	0													110	105	107					4																	109862572		1876	4109	5985	SO:0001583	missense	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.514C>A	4.37:g.109862572G>T	ENSP00000382083:p.His172Asn			Missense_Mutation	SNP	pfam_Collagen	p.H172N	ENST00000399132.1	37	c.514	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024538	0.54683	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399126	D;D	0.90676	-2.52;-2.71	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	N	0.08118	0	0.58432	D	0.999993	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	D	0.89014	0.3430	9	.	.	.	-8.8671	20.5632	0.99335	0.0:0.0:1.0:0.0	.	172;172	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	N	172;174;168;172	ENSP00000382083:H172N;ENSP00000382077:H172N	.	H	-	1	0	COL25A1	110082021	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.937000	0.99478	0.650000	0.86243	CAT	COL25A1	-	NULL	ENSG00000188517		0.408	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	-	0	83	0	G	NM_032518		109862572	-1	tier1	-	no_errors	ENST00000399132	ensembl	human	known	74_37	missense	39.29	34	22	SNP	1.000	T	T	109862572	G	T	109862572	3	4	76	1	0	0	0	0	1	0	0	0	3691	1290	45	3	1654	3	COL25A1	4	109862572	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	3665324	109862572	81291704	51	19901											
FBXW7	55294	genome.wustl.edu	37	chr4	153247174	153247175	+	Frame_Shift_Ins	INS	-	-	TATT																															tacctgtaatgaatagactcINStattagtatgcccctgcaac																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:153247174_153247175insTATT	ENST00000281708.4	-	10	2856_2857	c.1627_1628insAATA	c.(1627-1629)agafs	p.R543fs	FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.R367fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.R543fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.R543fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.R425fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.R463fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	543					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R543G(2)|p.R543K(1)|p.R463G(1)|p.?(1)|p.R304G(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAATAGACTCTATTAGTATGC	0.406			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	6	Substitution - Missense(5)|Unknown(1)	upper_aerodigestive_tract(4)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)																																								SO:0001589	frameshift_variant	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1624_1627dupAATA	4.37:g.153247175_153247178dupTATT	ENSP00000281708:p.Arg543fs		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R543fs	ENST00000281708.4	37	c.1628_1627	CCDS3777.1	4																																																																																			FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.406	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0	98	0	-			153247175	-1	tier1		no_errors	ENST00000281708	ensembl	human	known	74_37	frame_shift_ins	23.53	65	20	INS	1.000:1.000	TATT	TATT	153247175	-	TATT	153247174	7	5	76	1	0	1	1	0	0	0	0	0	5791	913	32	0	507	0	FBXW7	4	153247174	Frame_Shift_Ins	INS	-	TCGA-L5-A88Z-01A-11D-A36J-09	43384602	153247174	37907102	52	19902											
FBXW7	55294	genome.wustl.edu	37	chr4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatattgaacacagcGgactgctgcaacatgaccca	13	7	8	13	1	1	2	1	2	0	0	1	3	1	3	2	1	5	2	2	1	3	2	rs149680468		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167	156	160					4																	153247289		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505G	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0	59	0	G			153247289	-1	tier1	-	no_errors	ENST00000281708	ensembl	human	known	74_37	missense	51.61	30	32	SNP	1.000	C	C	153247289	G	C	153247289	3	2	76	1	0	0	0	0	1	0	0	0	5791	1116	39	5	622	5	FBXW7	4	153247289	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	115	153247289	37906987	53	19903											
ADAM29	11086	genome.wustl.edu	37	chr4	175899049	175899049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcatcctcagttgacGccttcccagagtcaacctcc	9	9	7	16	1	3	3	3	1	0	2	6	3	6	3	5	0	1	1	5	0	1	2	rs372859702		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:175899049G>A	ENST00000359240.3	+	5	3043	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	ADAM29_ENST00000404450.4_Silent_p.T791T|ADAM29_ENST00000514159.1_Silent_p.T791T|ADAM29_ENST00000445694.1_Silent_p.T791T|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	791	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T791T(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTCAGTTGACGCCTTCCCAGA	0.572													G|||	1	0.000199681	0	0	5008	,	,		19223	0		0	False		,,,				2504	0.001				Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - coding silent(1)	urinary_tract(1)						G	,,,	0,4406		0,0,2203	163	151	155		2373,2373,2373,2373	-1.5	0	4		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	791/821,791/821,791/821,791/821	175899049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2373G>A	4.37:g.175899049G>A			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T791	ENST00000359240.3	37	c.2373	CCDS3823.1	4																																																																																			ADAM29	-	NULL	ENSG00000168594		0.572	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		-	0	114	0	G			175899049	1	tier1	-	no_errors	ENST00000359240	ensembl	human	known	74_37	silent	41.38	68	48	SNP	0.005	A	A	175899049	G	A	175899049	2	1	76	1	0	0	0	0	0	0	0	1	247	1074	38	1		1	ADAM29	4	175899049	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	22651760	175899049	15255227	54	19904											
ODZ3	55714	genome.wustl.edu	37	chr4	183714437	183714437	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaaaggggcacggaaatCtttgaatatagctccaaggg	13	8	12	8	2	2	1	1	1	1	0	3	2	3	2	1	4	1	2	1	4	6	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:183714437C>A	ENST00000511685.1	+	26	6735	c.6612C>A	c.(6610-6612)atC>atA	p.I2204I	TENM3_ENST00000406950.2_Silent_p.I2204I			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2204					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCACGGAAATCTTTGAATATA	0.493																																																	0													98	98	98					4																	183714437		1909	4114	6023	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6612C>A	4.37:g.183714437C>A			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.I2204	ENST00000511685.1	37	c.6612	CCDS47165.1	4																																																																																			TENM3	-	superfamily_Cyt_c-like_dom	ENSG00000218336		0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1		0	67	0	C			183714437	1			no_errors	ENST00000406950	ensembl	human	known	74_37	silent	5.00	56	3	SNP	1.000	A	A	183714437	C	A	183714437	2	1	76	1	0	0	0	0	0	0	0	1	10875	903	32	3		3	ODZ3	4	183714437	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	7815388	183714437	7439839	55	19905											
FAT1	2195	genome.wustl.edu	37	chr4	187554967	187554967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatcgaagtgactgtcGtagttgccacctaatttggg	9	12	10	10	2	0	1	0	1	0	0	3	2	1	1	3	1	1	2	3	1	3	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr4:187554967G>A	ENST00000441802.2	-	7	4403	c.4194C>T	c.(4192-4194)taC>taT	p.Y1398Y		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1398	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y1398Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTGACTGTCGTAGTTGCCAC	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												2	Substitution - coding silent(2)	lung(2)											157	144	148					4																	187554967		1912	4126	6038	SO:0001819	synonymous_variant	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4194C>T	4.37:g.187554967G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.Y1398	ENST00000441802.2	37	c.4194	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0	61	0	G	NM_005245		187554967	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.656	A	A	187554967	G	A	187554967	2	1	76	1	0	0	0	0	0	0	0	1	5711	1140	40	1		1	FAT1	4	187554967	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	3840530	187554967	3599309	56	19906											
CDH12	1010	genome.wustl.edu	37	chr5	21802277	21802277	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgtttctttttctcaccTaacagcactgctgcctacat	10	15	4	12	0	2	0	1	0	2	0	3	0	2	0	2	0	5	3	2	0	3	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:21802277T>C	ENST00000382254.1	-	10	2341	c.1255A>G	c.(1255-1257)Agg>Ggg	p.R419G	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Splice_Site_p.R419G|CDH12_ENST00000522262.1_Splice_Site_p.R379G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTTCTCACCTAACAGCACTG	0.428										HNSCC(59;0.17)																																							0													66	54	58					5																	21802277		2203	4300	6503	SO:0001630	splice_region_variant	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1256+1A>G	5.37:g.21802277T>C			B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R419G	ENST00000382254.1	37	c.1255	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	T	17.57	3.421472	0.62622	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.54279	0.58;0.58;0.58	5.84	1.9	0.25705	Cadherin (4);Cadherin-like (1);	0.093441	0.64402	D	0.000001	T	0.61527	0.2354	M	0.79475	2.455	0.48571	D	0.999673	P;P	0.47484	0.755;0.896	P;P	0.48952	0.593;0.596	T	0.68965	-0.5270	10	0.72032	D	0.01	.	14.0948	0.65013	0.0:0.0:0.5019:0.4981	.	379;419	B7Z2U6;P55289	.;CAD12_HUMAN	G	419;419;379	ENSP00000423577:R419G;ENSP00000371689:R419G;ENSP00000428786:R379G	ENSP00000371689:R419G	R	-	1	2	CDH12	21838034	1.000000	0.71417	0.943000	0.38184	0.820000	0.46376	3.094000	0.50227	0.457000	0.26962	-0.264000	0.10439	AGG	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.428	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	41	0	T	NM_004061	Missense_Mutation	21802277	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.997	C	C	21802277	T	C	21802277	5	2	76	1	0	0	0	0	0	0	1	0	3105	1536	53	4	1153	4	CDH12	5	21802277	Splice_Site	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09		21802277	159112983	57	19907											
RNASEN	29102	genome.wustl.edu	37	chr5	31409237	31409237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgaagctgggatttgggGtcattccaatcctgattcaa	9	13	11	8	0	2	2	2	2	0	0	4	3	4	3	2	3	2	2	2	3	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:31409237G>A	ENST00000511367.2	-	32	4024	c.3780C>T	c.(3778-3780)gaC>gaT	p.D1260D	DROSHA_ENST00000344624.3_Silent_p.D1260D|DROSHA_ENST00000442743.1_Silent_p.D1223D|DROSHA_ENST00000513349.1_Silent_p.D1223D	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1260	DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGGATTTGGGGTCATTCCAAT	0.438																																																	0													71	67	68					5																	31409237		1856	4112	5968	SO:0001819	synonymous_variant	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3780C>T	5.37:g.31409237G>A			E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Silent	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.D1260	ENST00000511367.2	37	c.3780	CCDS47195.1	5																																																																																			DROSHA	-	pfscan_dsRNA-bd_dom	ENSG00000113360		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0	101	0	G	NM_013235		31409237	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	silent	5.32	89	5	SNP	1.000	A	A	31409237	G	A	31409237	2	1	76	1	0	0	0	0	0	0	0	1	13462	1252	44	3		3	RNASEN	5	31409237	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	9606960	31409237	149506023	58	19908											
AGXT2	64902	genome.wustl.edu	37	chr5	35013131	35013131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagtgctgcaggcatttCgccaaagatttggcaatctc	10	12	10	9	1	1	2	0	1	1	1	3	2	1	2	1	2	2	4	1	2	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:35013131C>T	ENST00000231420.6	-	11	1316	c.1116G>A	c.(1114-1116)gcG>gcA	p.A372A		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	372					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GCAGGCATTTCGCCAAAGATT	0.502																																																	0													73	59	64					5																	35013131		1965	3735	5700	SO:0001819	synonymous_variant	0			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1116G>A	5.37:g.35013131C>T			B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	p.A372	ENST00000231420.6	37	c.1116	CCDS3908.1	5																																																																																			AGXT2	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase	ENSG00000113492		0.502	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2	HGNC	protein_coding	OTTHUMT00000207574.2	-	0	79	0	C	NM_031900		35013131	-1	tier1	-	no_errors	ENST00000231420	ensembl	human	known	74_37	silent	38.81	41	26	SNP	0.272	T	T	35013131	C	T	35013131	2	4	76	1	0	0	0	0	0	0	0	1	405	871	31	1		1	AGXT2	5	35013131	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	3603894	35013131	145902129	59	19909											
MCCC2	64087	genome.wustl.edu	37	chr5	70945901	70945901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcttcccccagcccaaGatttctctacatttggccaa	8	14	4	15	0	2	1	0	0	2	1	4	1	3	1	4	1	2	0	4	1	3	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:70945901G>T	ENST00000340941.6	+	15	1508	c.1379G>T	c.(1378-1380)aGa>aTa	p.R460I	MCCC2_ENST00000323375.8_Missense_Mutation_p.R422I	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	460	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CCCAGCCCAAGATTTCTCTAC	0.433																																																	0													89	94	92					5																	70945901		2203	4300	6503	SO:0001583	missense	0			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.1379G>T	5.37:g.70945901G>T	ENSP00000343657:p.Arg460Ile		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.R460I	ENST00000340941.6	37	c.1379	CCDS34184.1	5	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848420	0.91277	.	.	ENSG00000131844	ENST00000340941;ENST00000323375;ENST00000509539	D;D;D	0.97710	-4.5;-4.5;-4.5	5.83	5.83	0.93111	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98681	1.0692	10	0.87932	D	0	-21.5911	18.8841	0.92368	0.0:0.0:1.0:0.0	.	460	Q9HCC0	MCCB_HUMAN	I	460;422;232	ENSP00000343657:R460I;ENSP00000327308:R422I;ENSP00000425474:R232I	ENSP00000327308:R422I	R	+	2	0	MCCC2	70981657	1.000000	0.71417	0.996000	0.52242	0.748000	0.42578	9.837000	0.99465	2.763000	0.94921	0.655000	0.94253	AGA	MCCC2	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000131844		0.433	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC2	HGNC	protein_coding	OTTHUMT00000369243.4	-	0	55	0	G			70945901	1	tier1	-	no_errors	ENST00000340941	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.998	T	T	70945901	G	T	70945901	3	4	76	1	0	0	0	0	1	0	0	0	9413	942	33	3	1437	3	MCCC2	5	70945901	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	35932770	70945901	109969359	60	19910											
MAP1B	4131	genome.wustl.edu	37	chr5	71494166	71494166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaatcccttgctatggacTtcagtcgacagtctccagat	10	11	8	12	1	2	1	1	0	1	1	5	3	3	2	2	1	2	2	2	1	2	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:71494166T>C	ENST00000296755.7	+	5	5282	c.4984T>C	c.(4984-4986)Ttc>Ctc	p.F1662L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1662					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGCTATGGACTTCAGTCGACA	0.488																																					Melanoma(17;367 822 11631 31730 47712)												0													106	106	106					5																	71494166		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4984T>C	5.37:g.71494166T>C	ENSP00000296755:p.Phe1662Leu		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.F1662L	ENST00000296755.7	37	c.4984	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118580	0.56505	.	.	ENSG00000131711	ENST00000296755	T	0.04317	3.65	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000003	T	0.09069	0.0224	N	0.08118	0	0.58432	D	0.999997	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.46857	-0.9161	10	0.87932	D	0	-17.9216	15.0421	0.71799	0.0:0.0:0.0:1.0	.	1536;1662	A2BDK6;P46821	.;MAP1B_HUMAN	L	1662	ENSP00000296755:F1662L	ENSP00000296755:F1662L	F	+	1	0	MAP1B	71529922	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.698000	0.84413	1.971000	0.57363	0.260000	0.18958	TTC	MAP1B	-	NULL	ENSG00000131711		0.488	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0	47	0	T	NM_005909		71494166	1			no_errors	ENST00000296755	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	C	C	71494166	T	C	71494166	3	2	76	1	0	0	0	0	1	0	0	0	9266	1609	56	4	5002	4	MAP1B	5	71494166	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	548265	71494166	109421094	61	19911											
AP3S1	1176	genome.wustl.edu	37	chr5	115205741	115205741	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggatctgacaacaaactGatttatagacattatgcaac	16	10	8	7	0	1	3	0	2	1	1	1	5	1	5	0	2	4	1	0	2	6	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:115205741G>C	ENST00000316788.7	+	3	746	c.189G>C	c.(187-189)ctG>ctC	p.L63L		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	63					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		ACAACAAACTGATTTATAGAC	0.308																																																	0													127	124	125					5																	115205741		2202	4297	6499	SO:0001819	synonymous_variant	0			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.189G>C	5.37:g.115205741G>C			O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Silent	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.L63	ENST00000316788.7	37	c.189	CCDS4123.1	5																																																																																			AP3S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000177879		0.308	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250847.2	-	0	74	0	G			115205741	1	tier1	-	no_errors	ENST00000316788	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.998	C	C	115205741	G	C	115205741	2	2	76	1	0	0	0	0	0	0	0	1	749	1277	45	5		5	AP3S1	5	115205741	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	43711575	115205741	65709519	62	19912											
FBN2	2201	genome.wustl.edu	37	chr5	127614384	127614384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctttttgtactgggcagTtccaggaagtgggcaaagct	9	13	12	7	0	1	0	0	0	1	0	2	1	2	1	1	3	2	5	1	3	4	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:127614384T>C	ENST00000508053.1	-	63	8262	c.7288A>G	c.(7288-7290)Act>Gct	p.T2430A	FBN2_ENST00000262464.4_Missense_Mutation_p.T2430A			P35556	FBN2_HUMAN	fibrillin 2	2430	TB 9.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACTGGGCAGTTCCAGGAAGT	0.468																																																	0													112	105	107					5																	127614384		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7288A>G	5.37:g.127614384T>C	ENSP00000424571:p.Thr2430Ala		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.T2430A	ENST00000508053.1	37	c.7288	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844389	0.91197	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.94280	-3.39;-3.39	4.84	4.84	0.62591	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.53938	D	0.000048	D	0.96451	0.8842	M	0.84773	2.715	0.52501	D	0.999954	D	0.57899	0.981	D	0.64321	0.924	D	0.96760	0.9560	10	0.56958	D	0.05	.	14.8763	0.70496	0.0:0.0:0.0:1.0	.	2430	P35556	FBN2_HUMAN	A	2430	ENSP00000262464:T2430A;ENSP00000424571:T2430A	ENSP00000262464:T2430A	T	-	1	0	FBN2	127642283	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.776000	0.85560	2.161000	0.67846	0.528000	0.53228	ACT	FBN2	-	pirsf_FBN,pfam_TB_dom,superfamily_TB_dom	ENSG00000138829		0.468	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	59	0	T	NM_001999		127614384	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	28.57	45	18	SNP	1.000	C	C	127614384	T	C	127614384	3	2	76	1	0	0	0	0	1	0	0	0	5725	1725	60	4	1486	4	FBN2	5	127614384	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	12408643	127614384	53300876	63	19913											
SEPT8	23176	genome.wustl.edu	37	chr5	132096579	132096579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccaccgcagccttccGgcgattgaaggcgttggtct	5	9	13	14	4	1	1	0	1	1	0	3	2	3	1	5	4	1	2	5	4	1	3	rs374687255		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:132096579G>A	ENST00000378719.2	-	9	1438	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	SEPT8_ENST00000378699.2_Missense_Mutation_p.R341W|SEPT8_ENST00000481030.1_5'Flank|SEPT8_ENST00000378706.1_Missense_Mutation_p.R401W|SEPT8_ENST00000378721.4_Missense_Mutation_p.R399W|SEPT8_ENST00000296873.7_Missense_Mutation_p.R401W|SEPT8_ENST00000378701.1_Missense_Mutation_p.R399W|SEPT8_ENST00000458488.2_Missense_Mutation_p.R401W|SEPT8_ENST00000448933.1_Missense_Mutation_p.R341W	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	401					cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGCCTTCCGGCGATTGAAG	0.622																																																	0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4150		0,0,2075	91	99	97		1201,1201,1021,1201	1.6	1	5		97	1,8385		0,1,4192	no	missense,missense,missense,missense	SEPT8	NM_001098811.1,NM_001098812.1,NM_001098813.1,NM_015146.1	101,101,101,101	0,1,6267	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging	401/484,401/443,341/370,401/430	132096579	1,12535	2075	4193	6268	SO:0001583	missense	0			AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"Septins"	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.1201C>T	5.37:g.132096579G>A	ENSP00000367991:p.Arg401Trp		A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.R401W	ENST00000378719.2	37	c.1201	CCDS43358.1	5	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349064	0.82132	0.0	1.19E-4	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	D;D;D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.55	1.62	0.23740	.	0.099302	0.64402	D	0.000004	D	0.89308	0.6678	M	0.76170	2.325	0.47862	D	0.999538	D;D;D;D	0.89917	0.999;1.0;0.998;1.0	D;D;P;D	0.66847	0.924;0.924;0.888;0.947	D	0.90003	0.4116	10	0.87932	D	0	.	14.8247	0.70101	0.0:0.0:0.6909:0.3091	.	399;399;401;401	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	W	401;399;401;341;401;341;399;401	ENSP00000367991:R401W;ENSP00000367993:R399W;ENSP00000296873:R401W;ENSP00000399840:R341W;ENSP00000367978:R401W;ENSP00000367971:R341W;ENSP00000367973:R399W;ENSP00000394766:R401W	ENSP00000296873:R401W	R	-	1	2	SEPT8	132124478	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.939000	0.40213	0.384000	0.24942	-0.262000	0.10625	CGG	SEPT8	-	pirsf_Septin	ENSG00000164402		0.622	SEPT8-002	KNOWN	basic|CCDS	protein_coding	SEPT8	HGNC	protein_coding	OTTHUMT00000132827.2	-	0	53	0	G	XM_034872		132096579	-1	tier1	-	no_errors	ENST00000378719	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	A	A	132096579	G	A	132096579	3	1	76	1	0	0	0	0	1	0	0	0	14115	1115	39	1	313	1	SEPT8	5	132096579	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	4482195	132096579	48818681	64	19914											
DDX46	9879	genome.wustl.edu	37	chr5	134147505	134147505	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcagctcttggtctacaAgattcagatgatgaggatgc	13	10	11	7	0	3	4	1	2	2	2	3	5	3	5	0	2	4	2	0	2	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:134147505A>T	ENST00000354283.4	+	18	2541	c.2406A>T	c.(2404-2406)caA>caT	p.Q802H	DDX46_ENST00000452510.2_Missense_Mutation_p.Q802H			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	802					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGTCTACAAGATTCAGATG	0.378																																					Colon(13;391 453 4901 21675 24897)												0													127	129	128					5																	134147505		2203	4300	6503	SO:0001583	missense	0				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"DEAD-boxes"	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2406A>T	5.37:g.134147505A>T	ENSP00000346236:p.Gln802His		O94894|Q96EI0|Q9Y658	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q802H	ENST00000354283.4	37	c.2406	CCDS34240.1	5	.	.	.	.	.	.	.	.	.	.	A	12.71	2.018466	0.35606	.	.	ENSG00000145833	ENST00000452510;ENST00000354283	T;T	0.27402	1.67;1.68	5.07	-0.807	0.10872	.	0.051337	0.85682	D	0.000000	T	0.23210	0.0561	L	0.42487	1.325	0.51482	D	0.999929	B	0.12013	0.005	B	0.17722	0.019	T	0.08146	-1.0736	10	0.51188	T	0.08	-17.8213	10.0814	0.42393	0.517:0.0:0.483:0.0	.	802	Q7L014	DDX46_HUMAN	H	802	ENSP00000416534:Q802H;ENSP00000346236:Q802H	ENSP00000346236:Q802H	Q	+	3	2	DDX46	134175404	0.997000	0.39634	0.999000	0.59377	0.979000	0.70002	0.529000	0.23019	0.013000	0.14918	-0.512000	0.04463	CAA	DDX46	-	NULL	ENSG00000145833		0.378	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1		0	99	0	A	NM_014829		134147505	1			no_errors	ENST00000452510	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.998	T	T	134147505	A	T	134147505	3	4	76	1	0	0	0	0	1	0	0	0	4373	69	3	5	2476	5	DDX46	5	134147505	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	2050926	134147505	46767755	65	19915											
SH3RF2	153769	genome.wustl.edu	37	chr5	145442018	145442018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtgagatttcagaattaCagccctcctcccaccaaaca	13	8	5	15	1	1	2	1	1	0	2	3	3	3	2	5	0	3	0	5	0	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:145442018C>T	ENST00000511217.1	+	9	1996	c.1944C>T	c.(1942-1944)taC>taT	p.Y648Y	SH3RF2_ENST00000359120.4_Silent_p.Y648Y|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	648					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)	p.Y648Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGAATTACAGCCCTCCTC	0.547																																																	1	Substitution - coding silent(1)	breast(1)											147	138	141					5																	145442018		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	26299	protein-coding gene	gene with protein product	"heart protein phosphatase 1-binding protein", "POSH-eliminating RING protein"	613377	"protein phosphatase 1, regulatory subunit 39"	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1944C>T	5.37:g.145442018C>T			A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain	p.Y648	ENST00000511217.1	37	c.1944	CCDS4280.1	5																																																																																			SH3RF2	-	NULL	ENSG00000156463		0.547	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SH3RF2	HGNC	protein_coding	OTTHUMT00000372804.1		0	52	0	C	NM_152550		145442018	1			no_errors	ENST00000359120	ensembl	human	known	74_37	silent	5.88	48	3	SNP	1.000	T	T	145442018	C	T	145442018	2	4	76	1	0	0	0	0	0	0	0	1	14304	489	17	3		3	SH3RF2	5	145442018	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	11294513	145442018	35473242	66	19916											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147015801	147015801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccttttctaaaagctccTggtttctcttaatgaaaagt	12	16	5	8	0	2	1	0	1	2	0	4	1	3	1	2	1	2	2	2	1	6	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:147015801T>A	ENST00000265272.5	-	12	2128	c.1661A>T	c.(1660-1662)cAg>cTg	p.Q554L	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.Q512L|JAKMIP2_ENST00000507386.1_Intron	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	554						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAGCTCCTGGTTTCTCTT	0.483																																																	0													112	97	102					5																	147015801		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1661A>T	5.37:g.147015801T>A	ENSP00000265272:p.Gln554Leu		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.Q554L	ENST00000265272.5	37	c.1661	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430087	0.83776	.	.	ENSG00000176049	ENST00000265272;ENST00000333010	T;T	0.28454	1.61;1.61	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.75615	2.305	0.80722	D	1	P;P;P	0.48294	0.908;0.908;0.908	P;P;P	0.61397	0.888;0.888;0.888	T	0.45454	-0.9260	10	0.17832	T	0.49	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	512;554;554	B4DSG0;Q96AA8-3;Q96AA8	.;.;JKIP2_HUMAN	L	554;512	ENSP00000265272:Q554L;ENSP00000328989:Q512L	ENSP00000265272:Q554L	Q	-	2	0	JAKMIP2	146995994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.317000	0.78254	0.460000	0.39030	CAG	JAKMIP2	-	NULL	ENSG00000176049		0.483	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	52	0	T	NM_014790		147015801	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	147015801	T	A	147015801	3	1	76	1	0	0	0	0	1	0	0	0	7968	1580	55	5	811	5	JAKMIP2	5	147015801	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	1573783	147015801	33899459	67	19917											
GLRA1	2741	genome.wustl.edu	37	chr5	151266295	151266295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcaccatggttgtctcaGcaatggaaccaaagctgttg	11	11	9	10	0	2	0	2	0	1	0	3	1	2	1	2	2	4	4	2	2	4	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:151266295G>T	ENST00000455880.2	-	3	525	c.239C>A	c.(238-240)gCt>gAt	p.A80D	GLRA1_ENST00000274576.4_Missense_Mutation_p.A80D|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_De_novo_Start_OutOfFrame			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	80					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTTGTCTCAGCAATGGAACC	0.468																																																	0													117	107	111					5																	151266295		2203	4300	6503	SO:0001583	missense	0				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.239C>A	5.37:g.151266295G>T	ENSP00000411593:p.Ala80Asp		B2R6T3|Q14C77|Q6DJV9	Nonsense_Mutation	SNP	NULL	p.C37*	ENST00000455880.2	37	c.111	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.462685	0.98299	.	.	ENSG00000145888	ENST00000274576;ENST00000455880	T;T	0.73897	-0.79;-0.79	5.45	5.45	0.79879	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	N	0.12611	0.24	0.80722	D	1	D;D	0.71674	0.989;0.998	D;D	0.71870	0.974;0.975	T	0.78899	-0.2022	10	0.44086	T	0.13	.	19.2864	0.94072	0.0:0.0:1.0:0.0	.	80;80	P23415;P23415-2	GLRA1_HUMAN;.	D	80	ENSP00000274576:A80D;ENSP00000411593:A80D	ENSP00000274576:A80D	A	-	2	0	GLRA1	151246488	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.247000	0.95444	2.559000	0.86315	0.655000	0.94253	GCT	GLRA1	-	NULL	ENSG00000145888		0.468	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	HGNC	protein_coding	OTTHUMT00000373959.1	-	0	75	0	G			151266295	-1	tier1	-	no_errors	ENST00000462581	ensembl	human	known	74_37	nonsense	6.33	74	5	SNP	1.000	T	T	151266295	G	T	151266295	3	4	76	1	0	0	0	0	1	0	0	0	6480	971	34	3	1162	3	GLRA1	5	151266295	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	4250494	151266295	29648965	68	19918											
CYFIP2	26999	genome.wustl.edu	37	chr5	156727797	156727797	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggaaggactttgtctcTgaggcctacctcctgaccct	7	10	10	14	1	1	2	0	2	1	0	3	4	2	4	4	3	1	1	4	3	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:156727797T>C	ENST00000521420.1	+	5	475	c.384T>C	c.(382-384)tcT>tcC	p.S128S	CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000377576.3_Silent_p.S154S|CYFIP2_ENST00000347377.6_Silent_p.S154S|CYFIP2_ENST00000541131.1_Silent_p.S79S|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Silent_p.S154S					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTTGTCTCTGAGGCCTACC	0.567																																																	0													103	104	103					5																	156727797		2150	4285	6435	SO:0001819	synonymous_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.384T>C	5.37:g.156727797T>C				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.S154	ENST00000521420.1	37	c.462		5																																																																																			CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000055163		0.567	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0	50	0	T	NM_001037332		156727797	1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.031	C	C	156727797	T	C	156727797	2	2	76	1	0	0	0	0	0	0	0	1	4147	1567	55	4		4	CYFIP2	5	156727797	Silent	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	5461502	156727797	24187463	69	19919											
FLT4	2324	genome.wustl.edu	37	chr5	180056281	180056281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaatgacctcggtgctCtcccgaaatcgctggatgcc	8	9	10	14	3	1	1	0	1	1	0	4	3	1	2	3	2	3	3	3	2	2	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr5:180056281C>A	ENST00000261937.6	-	7	1041	c.963G>T	c.(961-963)gaG>gaT	p.E321D	FLT4_ENST00000393347.3_Missense_Mutation_p.E321D|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E321D	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	321	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E321D(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTCGGTGCTCTCCCGAAATC	0.602																																					Colon(97;1075 1466 27033 27547 35871)												2	Substitution - Missense(2)	breast(2)											168	149	155					5																	180056281		2202	4299	6501	SO:0001583	missense	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.963G>T	5.37:g.180056281C>A	ENSP00000261937:p.Glu321Asp		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.E321D	ENST00000261937.6	37	c.963	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	2.103	-0.405623	0.04832	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.67523	-0.27;-0.27;-0.27	4.91	0.782	0.18567	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50188	0.1601	L	0.35341	1.055	0.36088	D	0.843246	B;B;B	0.16166	0.016;0.0;0.0	B;B;B	0.15484	0.013;0.005;0.005	T	0.43180	-0.9407	9	0.15066	T	0.55	.	10.847	0.46748	0.0:0.4023:0.5234:0.0742	.	321;321;321	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	D	321;321;321;131	ENSP00000261937:E321D;ENSP00000377016:E321D;ENSP00000426057:E321D	ENSP00000261937:E321D	E	-	3	2	FLT4	179988887	1.000000	0.71417	0.997000	0.53966	0.198000	0.23893	0.592000	0.23984	-0.075000	0.12798	-0.264000	0.10439	GAG	FLT4	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000037280		0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4		0	40	0	C			180056281	-1			no_errors	ENST00000261937	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.997	A	A	180056281	C	A	180056281	3	1	76	1	0	0	0	0	1	0	0	0	5966	912	32	3	3232	3	FLT4	5	180056281	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	23328484	180056281	858979	70	19920											
DNAH8	1769	genome.wustl.edu	37	chr6	38854685	38854685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagcaatgatccaccctgGaggtggtcgaaatgatattc	12	9	11	9	1	0	2	0	2	0	0	3	4	1	3	2	3	2	2	2	3	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:38854685G>T	ENST00000359357.3	+	55	7981	c.7727G>T	c.(7726-7728)gGa>gTa	p.G2576V	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2793V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2540V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2576	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCCACCCTGGAGGTGGTCGA	0.393																																																	0													147	135	139					6																	38854685		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7727G>T	6.37:g.38854685G>T	ENSP00000352312:p.Gly2576Val		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G2576V	ENST00000359357.3	37	c.7727		6	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880156	0.91740	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.34667	1.35;1.35;1.35	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82688	-0.0333	10	0.72032	D	0.01	.	19.3374	0.94324	0.0:0.0:1.0:0.0	.	2576	Q96JB1	DYH8_HUMAN	V	2781;2781;2576;2540	ENSP00000333363:G2781V;ENSP00000352312:G2576V;ENSP00000402294:G2540V	ENSP00000333363:G2781V	G	+	2	0	DNAH8	38962663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.571000	0.86741	0.561000	0.74099	GGA	DNAH8	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000124721		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	50	0	G	NM_001206927		38854685	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	38854685	G	T	38854685	3	4	76	1	0	0	0	0	1	0	0	0	4621	1174	41	3	7937	3	DNAH8	6	38854685	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		38854685	132260382	71	19921											
KIAA0240	23506	genome.wustl.edu	37	chr6	42797429	42797429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttccaacatgctcaGgaccaaccaaccatatactg	15	8	4	14	0	2	0	1	0	1	0	3	1	3	1	4	1	6	1	4	1	6	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:42797429G>T	ENST00000314073.5	+	6	1534	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R453M			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	453								p.R453K(1)									AACATGCTCAGGACCAACCAA	0.468																																																	1	Substitution - Missense(1)	skin(1)											176	168	171					6																	42797429		2203	4300	6503	SO:0001583	missense	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1358G>T	6.37:g.42797429G>T	ENSP00000313933:p.Arg453Met		A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.R453M	ENST00000314073.5	37	c.1358	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250698	0.59212	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.46819	0.86;0.86	5.87	5.87	0.94306	.	0.065121	0.64402	D	0.000004	T	0.58821	0.2149	L	0.51422	1.61	0.51767	D	0.999939	D;P;B	0.76494	0.999;0.604;0.149	D;B;B	0.81914	0.995;0.275;0.05	T	0.48514	-0.9029	10	0.37606	T	0.19	-9.8861	20.5827	0.99408	0.0:0.0:1.0:0.0	.	453;453;453	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	M	453	ENSP00000313933:R453M;ENSP00000377723:R453M	ENSP00000313933:R453M	R	+	2	0	KIAA0240	42905407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.743000	0.62110	2.941000	0.99782	0.655000	0.94253	AGG	GLTSCR1L	-	NULL	ENSG00000112624		0.468	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1L	HGNC	protein_coding	OTTHUMT00000040562.3		0	41	0	G	NM_015349		42797429	1			no_errors	ENST00000314073	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	42797429	G	T	42797429	3	4	76	1	0	0	0	0	1	0	0	0	8191	1000	35	3	1372	3	KIAA0240	6	42797429	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	3942744	42797429	128317638	72	19922											
COL9A1	1297	genome.wustl.edu	37	chr6	70965094	70965094	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgtccttgatcaccCtgtatgaaaataaaattttg	11	14	6	10	1	1	2	1	2	0	0	3	2	2	2	3	0	0	2	3	0	5	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:70965094C>G	ENST00000357250.6	-	22	1662		c.e22-1		COL9A1_ENST00000489611.1_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site|COL9A1_ENST00000370499.4_Splice_Site	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTGATCACCCTGTATGAAAA	0.368																																																	0													125	114	118					6																	70965094		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1504-1G>C	6.37:g.70965094C>G			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Splice_Site	SNP	-	e22-1	ENST00000357250.6	37	c.1504-1	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704024	0.68615	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6295	0.88103	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL9A1	71021815	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	6.370000	0.73114	2.583000	0.87209	0.655000	0.94253	.	COL9A1	-	-	ENSG00000112280		0.368	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	-	0	41	0	C		Intron	70965094	-1	tier1	-	no_errors	ENST00000357250	ensembl	human	known	74_37	splice_site	34.09	29	15	SNP	1.000	G	G	70965094	C	G	70965094	5	3	76	1	0	0	0	0	0	0	1	0	3714	695	24	5	1330	5	COL9A1	6	70965094	Splice_Site	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	28167665	70965094	100149973	73	19923											
KHDC1	80759	genome.wustl.edu	37	chr6	73951401	73951401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactaatggaggtgaccaGgtcatcgttggtcagaggct	10	9	13	9	1	2	2	2	1	0	1	3	3	2	3	1	5	0	2	1	5	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:73951401G>T	ENST00000370384.3	-	5	1065	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	KHDC1_ENST00000257765.5_Missense_Mutation_p.L116M|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	189						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						GAGGTGACCAGGTCATCGTTG	0.557																																																	0													106	107	107					6																	73951401		2028	4190	6218	SO:0001583	missense	0				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"chromosome 6 open reading frame 148"	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.565C>A	6.37:g.73951401G>T	ENSP00000359411:p.Leu189Met		Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	NULL	p.L116M	ENST00000370384.3	37	c.346	CCDS59027.1	6	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838727	0.32513	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.54479	0.57	2.18	0.317	0.15861	.	.	.	.	.	T	0.47469	0.1447	L	0.58101	1.795	0.09310	N	1	D	0.62365	0.991	D	0.75484	0.986	T	0.26503	-1.0101	9	0.72032	D	0.01	.	4.2459	0.10672	0.3665:0.0:0.6335:0.0	.	189	Q4VXA5	KHDC1_HUMAN	M	116;189	ENSP00000359411:L189M	ENSP00000257765:L116M	L	-	1	2	KHDC1	74008122	0.032000	0.19561	0.011000	0.14972	0.095000	0.18619	0.403000	0.20982	0.051000	0.15978	0.561000	0.74099	CTG	KHDC1	-	NULL	ENSG00000135314		0.557	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	KHDC1	HGNC	protein_coding	OTTHUMT00000148103.2	-	0	106	0	G	NM_030568		73951401	-1	tier1	-	no_errors	ENST00000257765	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.014	T	T	73951401	G	T	73951401	3	4	76	1	0	0	0	0	1	0	0	0	8171	991	35	3	152	3	KHDC1	6	73951401	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2986307	73951401	97163666	74	19924											
UBE2CBP	90025	genome.wustl.edu	37	chr6	83732246	83732246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggagagctgcaccaGacactgggcgatcacgctct	11	5	13	12	2	2	3	1	0	1	3	2	5	2	3	1	2	3	4	1	2	0	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:83732246G>T	ENST00000369747.3	-	7	894	c.772C>A	c.(772-774)Ctg>Atg	p.L258M		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	258					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										AGCTGCACCAGACACTGGGCG	0.388																																																	0													65	64	64					6																	83732246		2203	4300	6503	SO:0001583	missense	0			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"UBCH10 binding protein with a hect-like domain"	612495	"chromosome 6 open reading frame 157", "ubiquitin-conjugating enzyme E2C binding protein"	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.772C>A	6.37:g.83732246G>T	ENSP00000358762:p.Leu258Met		B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.L258M	ENST00000369747.3	37	c.772	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026451	0.35701	.	.	ENSG00000118420	ENST00000369747	T	0.48522	0.81	5.72	2.96	0.34315	.	0.134536	0.51477	D	0.000089	T	0.48223	0.1488	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.979;0.98	T	0.47086	-0.9144	10	0.37606	T	0.19	-9.8047	6.1285	0.20192	0.0718:0.1344:0.654:0.1398	.	237;258	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	M	258	ENSP00000358762:L258M	ENSP00000358762:L258M	L	-	1	2	UBE2CBP	83788965	1.000000	0.71417	0.936000	0.37596	0.163000	0.22366	2.265000	0.43311	0.339000	0.23719	-1.119000	0.02030	CTG	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot	ENSG00000118420		0.388	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	-	0	75	0	G	NM_198920		83732246	-1	tier1	-	no_errors	ENST00000369747	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.996	T	T	83732246	G	T	83732246	3	4	76	1	0	0	0	0	1	0	0	0	16896	933	33	3	413	3	UBE2CBP	6	83732246	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	9780845	83732246	87382821	75	19925											
ROS1	6098	genome.wustl.edu	37	chr6	117704507	117704507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaaccaaggctgtgtCtgtagtacaagggaactttc	13	9	10	9	0	1	1	0	0	1	1	2	2	1	2	2	2	3	3	2	2	7	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:117704507C>A	ENST00000368508.3	-	16	2667	c.2469G>T	c.(2467-2469)caG>caT	p.Q823H	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.Q818H	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	823					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGGCTGTGTCTGTAGTACAA	0.388			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													184	176	179					6																	117704507		2203	4300	6503	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2469G>T	6.37:g.117704507C>A	ENSP00000357494:p.Gln823His		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q823H	ENST00000368508.3	37	c.2469	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441804	0.25900	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.91124	-2.79;-2.79	4.57	2.78	0.32641	.	0.000000	0.56097	D	0.000035	D	0.83903	0.5355	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.79899	-0.1608	10	0.15066	T	0.55	.	8.2743	0.31864	0.0:0.7338:0.0:0.2662	.	823	P08922	ROS1_HUMAN	H	823;818	ENSP00000357494:Q823H;ENSP00000357493:Q818H	ENSP00000357493:Q818H	Q	-	3	2	ROS1	117811200	0.855000	0.29742	0.996000	0.52242	0.993000	0.82548	0.443000	0.21644	0.631000	0.30412	0.655000	0.94253	CAG	ROS1	-	NULL	ENSG00000047936		0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	-	0	55	0	C			117704507	-1	tier1	-	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	50.00	21	21	SNP	0.979	A	A	117704507	C	A	117704507	3	1	76	1	0	0	0	0	1	0	0	0	13576	912	32	3	4686	3	ROS1	6	117704507	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	33972261	117704507	53410560	76	19926											
ROS1	6098	genome.wustl.edu	37	chr6	117708161	117708161	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgataaatggtggttcactAgctgtttagtaaaaaagaaa	17	12	9	3	0	1	2	1	1	0	1	1	2	1	2	0	2	1	4	0	2	8	6	rs375802861		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:117708161A>G	ENST00000368508.3	-	14	2214	c.2016T>C	c.(2014-2016)gcT>gcC	p.A672A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site_p.A667A	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	672					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGGTTCACTAGCTGTTTAGT	0.333			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A|||	1	0.000199681	0	0.0014	5008	,	,		17443	0		0	False		,,,				2504	0							Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0								A		0,4406		0,0,2203	76	73	74		2016	1.1	1	6		74	1,8599		0,1,4299	no	coding-synonymous-near-splice	ROS1	NM_002944.2		0,1,6502	GG,GA,AA		0.0116,0.0,0.0077		672/2348	117708161	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2015-1T>C	6.37:g.117708161A>G			Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A672	ENST00000368508.3	37	c.2016	CCDS5116.1	6																																																																																			ROS1	-	NULL	ENSG00000047936		0.333	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	-	0	84	0	A		Silent	117708161	-1	tier1	-	no_errors	ENST00000368508	ensembl	human	known	74_37	silent	5.75	82	5	SNP	0.422	G	G	117708161	A	G	117708161	5	3	76	1	0	0	0	0	0	0	1	0	13576	434	15	4	5147	4	ROS1	6	117708161	Splice_Site	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	3654	117708161	53406906	77	19927											
SYNE1	23345	genome.wustl.edu	37	chr6	152552555	152552555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagaccttgcagaatttGccaacttttattcattgctc	10	16	5	10	0	1	2	1	0	0	2	2	2	1	2	2	0	5	2	2	0	5	8			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:152552555G>T	ENST00000367255.5	-	114	21611	c.21010C>A	c.(21010-21012)Caa>Aaa	p.Q7004K	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6933K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6616K|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1528K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6933K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q7004K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7004					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAGAATTTGCCAACTTTTA	0.443										HNSCC(10;0.0054)																																							0													185	167	173					6																	152552555		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21010C>A	6.37:g.152552555G>T	ENSP00000356224:p.Gln7004Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q7004K	ENST00000367255.5	37	c.21010	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044134	0.93685	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000024	T	0.57359	0.2048	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.87578	0.995;0.995;0.998	T	0.55897	-0.8068	10	0.52906	T	0.07	.	20.2625	0.98452	0.0:0.0:1.0:0.0	.	7004;7004;6933	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	K	7004;6933;7004;6933;6616;1528	ENSP00000356224:Q7004K;ENSP00000396024:Q6933K;ENSP00000265368:Q7004K;ENSP00000390975:Q6933K;ENSP00000341887:Q6616K;ENSP00000349276:Q1528K	ENSP00000265368:Q7004K	Q	-	1	0	SYNE1	152594248	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.865000	0.99609	2.782000	0.95742	0.558000	0.71614	CAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	65	0	G	NM_182961		152552555	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	152552555	G	T	152552555	3	4	76	1	0	0	0	0	1	0	0	0	15492	1328	46	3	5588	3	SYNE1	6	152552555	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	34844394	152552555	18562512	78	19928											
SYTL3	94120	genome.wustl.edu	37	chr6	159146542	159146542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttctccagaaggtcaGtgcaccagatattctgaaac	11	12	7	11	0	3	3	1	1	2	2	5	3	4	3	3	1	2	1	3	1	3	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr6:159146542G>T	ENST00000297239.9	+	10	922	c.728G>T	c.(727-729)aGt>aTt	p.S243I	SYTL3_ENST00000367081.3_Intron|SYTL3_ENST00000360448.3_Missense_Mutation_p.S175I			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	243					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CAGAAGGTCAGTGCACCAGAT	0.418																																																	0													131	130	130					6																	159146542		2203	4300	6503	SO:0001583	missense	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.728G>T	6.37:g.159146542G>T	ENSP00000297239:p.Ser243Ile		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.S243I	ENST00000297239.9	37	c.728	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463499	0.43736	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.20598	2.06;2.07	4.42	4.42	0.53409	.	0.257658	0.38272	N	0.001742	T	0.19127	0.0459	M	0.62723	1.935	0.53688	D	0.999973	P;D	0.56287	0.89;0.975	B;P	0.47299	0.367;0.543	T	0.01084	-1.1457	10	0.66056	D	0.02	.	12.8255	0.57716	0.0:0.0:1.0:0.0	.	243;175	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	I	175;243;243	ENSP00000353631:S175I;ENSP00000297239:S243I	ENSP00000297239:S243I	S	+	2	0	SYTL3	159066530	0.019000	0.18553	0.001000	0.08648	0.766000	0.43426	1.174000	0.31932	2.750000	0.94351	0.467000	0.42956	AGT	SYTL3	-	NULL	ENSG00000164674		0.418	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1	-	0	75	0	G			159146542	1	tier1	-	no_errors	ENST00000297239	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.001	T	T	159146542	G	T	159146542	3	4	76	1	0	0	0	0	1	0	0	0	15531	1029	36	3	546	3	SYTL3	6	159146542	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	6593987	159146542	11968525	79	19929											
IQCE	23288	genome.wustl.edu	37	chr7	2645596	2645596	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgtcatcatccagtcCgctctgcgggcacacctggc	6	8	10	17	3	3	0	2	0	1	0	6	0	5	0	4	2	1	2	4	2	0	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:2645596C>T	ENST00000402050.2	+	20	2014	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S	IQCE_ENST00000438376.2_Silent_p.S594S|IQCE_ENST00000404984.1_Silent_p.S559S|IQCE_ENST00000325979.7_Silent_p.S545S	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	610	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TCATCCAGTCCGCTCTGCGGG	0.697																																																	0													32	40	37					7																	2645596		2125	4236	6361	SO:0001819	synonymous_variant	0			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1830C>T	7.37:g.2645596C>T			Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.S610	ENST00000402050.2	37	c.1830	CCDS43542.1	7																																																																																			IQCE	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000106012		0.697	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	-	0	114	0	C	NM_152558		2645596	1	tier1	-	no_errors	ENST00000402050	ensembl	human	known	74_37	silent	42.50	92	68	SNP	0.000	T	T	2645596	C	T	2645596	2	4	76	1	0	0	0	0	0	0	0	1	7833	639	23	1		1	IQCE	7	2645596	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09		2645596	156493067	80	19930											
KIAA0415	9907	genome.wustl.edu	37	chr7	4824679	4824679	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgagcaaagtaaccgaCgtgagtcccccacccagggc	11	6	10	14	2	1	2	1	2	0	0	2	3	2	2	4	1	2	2	4	1	2	2	rs376075583		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:4824679C>T	ENST00000348624.4	+	7	1025	c.931C>T	c.(931-933)Cga>Tga	p.R311*	AP5Z1_ENST00000401897.1_Splice_Site_p.R311*	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	311					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R155*(1)|p.R1022*(1)									AAGTAACCGACGTGAGTCCCC	0.687													C|||	1	0.000199681	0	0	5008	,	,		15177	0		0.001	False		,,,				2504	0																2	Substitution - Nonsense(2)	endometrium(2)						C	stop/ARG	0,3952		0,0,1976	28	33	31		931	1.6	0.4	7		31	1,8281		0,1,4140	no	stop-gained-near-splice	KIAA0415	NM_014855.2		0,1,6116	TT,TC,CC		0.0121,0.0,0.0082		311/808	4824679	1,12233	1976	4141	6117	SO:0001630	splice_region_variant	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"KIAA0415"	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.931+1C>T	7.37:g.4824679C>T			Q8N3X2|Q96H80	Nonsense_Mutation	SNP	NULL	p.R311*	ENST00000348624.4	37	c.931	CCDS47528.1	7	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461082	0.63513	0.0	1.21E-4	ENSG00000242802	ENST00000348624;ENST00000401897	.	.	.	4.88	1.57	0.23409	.	0.190505	0.42548	D	0.000684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3985	0.26950	0.4266:0.4827:0.0:0.0907	.	.	.	.	X	311	.	ENSP00000297562:R311X	R	+	1	2	KIAA0415	4791205	0.991000	0.36638	0.363000	0.25875	0.403000	0.30841	2.423000	0.44705	0.432000	0.26286	0.561000	0.74099	CGA	AP5Z1	-	NULL	ENSG00000242802		0.687	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	HGNC	protein_coding	OTTHUMT00000323771.1		0	66	0	C		Nonsense_Mutation	4824679	1			no_errors	ENST00000348624	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	0.938	T	T	4824679	C	T	4824679	5	4	76	1	0	0	0	0	0	0	1	0	8202	550	19	1	957	1	KIAA0415	7	4824679	Splice_Site	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	2179083	4824679	154313984	81	19931											
MTERF	7978	genome.wustl.edu	37	chr7	91503128	91503128	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtctattttatcattaaacTttttctctgccaagaagatc	12	17	4	8	0	3	2	1	0	2	2	5	2	3	2	1	0	2	0	1	0	6	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:91503128T>A	ENST00000351870.3	-	3	1073	c.980A>T	c.(979-981)aAg>aTg	p.K327M	MTERF_ENST00000406735.2_Missense_Mutation_p.K307M|MTERF_ENST00000419292.1_Missense_Mutation_p.K307M	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN		327	Interaction with DNA.				DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			ATCATTAAACTTTTTCTCTGC	0.353																																																	0													72	73	73					7																	91503128		2203	4300	6503	SO:0001583	missense	0																														ENST00000351870.3:c.980A>T	7.37:g.91503128T>A	ENSP00000248643:p.Lys327Met		A4D1E3|Q32NF8|Q53H51|Q9BVR7	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.K327M	ENST00000351870.3	37	c.980	CCDS5621.1	7	.	.	.	.	.	.	.	.	.	.	T	16.70	3.197194	0.58126	.	.	ENSG00000127989	ENST00000419292;ENST00000351870;ENST00000406735	T;T;T	0.13538	2.58;2.58;2.58	4.89	3.64	0.41730	.	0.256644	0.31660	N	0.007261	T	0.27967	0.0689	L	0.57536	1.79	0.40309	D	0.97869	D	0.61080	0.989	D	0.64144	0.922	T	0.01583	-1.1319	10	0.48119	T	0.1	-13.5258	10.9858	0.47520	0.0:0.0:0.156:0.844	.	327	Q99551	MTERF_HUMAN	M	307;327;307	ENSP00000414116:K307M;ENSP00000248643:K327M;ENSP00000384986:K307M	ENSP00000248643:K327M	K	-	2	0	MTERF	91341064	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.526000	0.45607	2.142000	0.66516	0.482000	0.46254	AAG	MTERF	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	ENSG00000127989		0.353	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1	-	0	66	0	T			91503128	-1	tier1	-	no_errors	ENST00000351870	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	91503128	T	A	91503128	3	1	76	1	0	0	0	0	1	0	0	0	9956	1609	56	5	223	5	MTERF	7	91503128	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	86678449	91503128	67635535	82	19932											
LMTK2	22853	genome.wustl.edu	37	chr7	97821009	97821009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctgctgacttacctgcGgctgcagagccagcgggact	7	7	14	13	2	0	2	0	1	0	1	0	3	0	3	2	3	6	4	2	3	1	1	rs531778656		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:97821009G>A	ENST00000297293.5	+	11	1525	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	411					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACTTACCTGCGGCTGCAGAGC	0.542													G|||	1	0.000199681	0	0	5008	,	,		15350	0		0	False		,,,				2504	0.001																0													65	60	62					7																	97821009		2203	4300	6503	SO:0001583	missense	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 100"	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1232G>A	7.37:g.97821009G>A	ENSP00000297293:p.Arg411Gln		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R411Q	ENST00000297293.5	37	c.1232	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299652	0.81136	.	.	ENSG00000164715	ENST00000297293	T	0.62105	0.05	5.41	5.41	0.78517	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.76782	-0.2832	10	0.37606	T	0.19	.	18.551	0.91065	0.0:0.0:1.0:0.0	.	411	Q8IWU2	LMTK2_HUMAN	Q	411	ENSP00000297293:R411Q	ENSP00000297293:R411Q	R	+	2	0	LMTK2	97658945	1.000000	0.71417	0.829000	0.32907	0.786000	0.44442	9.420000	0.97426	2.710000	0.92621	0.655000	0.94253	CGG	LMTK2	-	superfamily_Kinase-like_dom	ENSG00000164715		0.542	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	-	0	45	0	G	NM_014916		97821009	1	tier1	-	no_errors	ENST00000297293	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	97821009	G	A	97821009	3	1	76	1	0	0	0	0	1	0	0	0	8889	1116	39	1	1274	1	LMTK2	7	97821009	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	6317881	97821009	61317654	83	19933											
MYL10	93408	genome.wustl.edu	37	chr7	101256805	101256805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtagcacaggtttctgtagtCcaggttgccgcacacatctg	8	11	11	11	1	2	0	0	0	2	0	3	0	3	0	2	2	2	6	2	2	2	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:101256805C>G	ENST00000223167.4	-	8	808	c.631G>C	c.(631-633)Gac>Cac	p.D211H		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	211	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TTTCTGTAGTCCAGGTTGCCG	0.557																																					Esophageal Squamous(24;575 709 17516 40384 51639)												0													141	122	128					7																	101256805		2203	4300	6503	SO:0001583	missense	0			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"Myosins / Light chain", "EF-hand domain containing"	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.631G>C	7.37:g.101256805C>G	ENSP00000223167:p.Asp211His			Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.D211H	ENST00000223167.4	37	c.631	CCDS34713.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053130	0.75960	.	.	ENSG00000106436	ENST00000223167	T	0.81078	-1.45	4.84	4.84	0.62591	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.90147	0.6921	M	0.84585	2.705	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.91908	0.5537	10	0.87932	D	0	.	15.5111	0.75782	0.0:1.0:0.0:0.0	.	211	Q9BUA6	MYL10_HUMAN	H	211	ENSP00000223167:D211H	ENSP00000223167:D211H	D	-	1	0	MYL10	101043525	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	6.927000	0.75840	2.242000	0.73789	0.650000	0.86243	GAC	MYL10	-	NULL	ENSG00000106436		0.557	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL10	HGNC	protein_coding	OTTHUMT00000347575.1	-	0	75	0	C	NM_138403		101256805	-1	tier1	-	no_errors	ENST00000223167	ensembl	human	known	74_37	missense	30.36	39	17	SNP	1.000	G	G	101256805	C	G	101256805	3	3	76	1	0	0	0	0	1	0	0	0	10082	855	30	5	53	5	MYL10	7	101256805	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	3435796	101256805	57881858	84	19934											
WASL	8976	genome.wustl.edu	37	chr7	123388731	123388731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcggggtgagcaacaGggaccccacgttggtgaccc	7	6	14	14	2	0	2	0	2	0	0	1	3	1	3	4	4	3	2	4	4	1	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:123388731G>C	ENST00000223023.4	-	1	390	c.58C>G	c.(58-60)Ctg>Gtg	p.L20V	RP11-390E23.6_ENST00000607957.1_RNA	NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	20					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGAGCAACAGGGACCCCACG	0.662																																																	0													43	40	41					7																	123388731		2203	4300	6503	SO:0001583	missense	0			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.58C>G	7.37:g.123388731G>C	ENSP00000223023:p.Leu20Val		A1JUI9|Q7Z746	Missense_Mutation	SNP	pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom	p.L20V	ENST00000223023.4	37	c.58	CCDS34743.1	7	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323257	0.60634	.	.	ENSG00000106299	ENST00000223023;ENST00000536685	D	0.99691	-6.42	4.78	0.841	0.18918	Pleckstrin homology-type (1);	0.292557	0.28659	N	0.014580	D	0.96691	0.8920	N	0.08118	0	0.40261	D	0.978175	B	0.19583	0.037	B	0.12837	0.008	D	0.92217	0.5781	10	0.21014	T	0.42	-6.7874	4.2764	0.10811	0.341:0.0:0.5127:0.1463	.	20	O00401	WASL_HUMAN	V	20	ENSP00000223023:L20V	ENSP00000223023:L20V	L	-	1	2	WASL	123175967	0.986000	0.35501	0.996000	0.52242	0.936000	0.57629	0.494000	0.22467	-0.148000	0.11234	-0.459000	0.05422	CTG	WASL	-	NULL	ENSG00000106299		0.662	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	-	0	244	0	G	NM_003941		123388731	-1	tier1	-	no_errors	ENST00000223023	ensembl	human	known	74_37	missense	10.19	194	22	SNP	0.992	C	C	123388731	G	C	123388731	3	2	76	1	0	0	0	0	1	0	0	0	17305	991	35	5	1503	5	WASL	7	123388731	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	22131926	123388731	35749932	85	19935											
PLXNA4	91584	genome.wustl.edu	37	chr7	131913111	131913111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacgacccttaccagcacGttgtactgagagacggagat	11	7	10	13	3	0	3	0	1	0	2	0	6	0	3	3	1	3	3	3	1	2	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:131913111G>A	ENST00000359827.3	-	6	2684	c.1722C>T	c.(1720-1722)aaC>aaT	p.N574N	PLXNA4_ENST00000321063.4_Silent_p.N574N			Q9HCM2	PLXA4_HUMAN	plexin A4	574					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.N574N(2)|p.N574K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTACCAGCACGTTGTACTGAG	0.592																																																	4	Substitution - Missense(2)|Substitution - coding silent(2)	lung(2)|endometrium(2)											68	70	69					7																	131913111		1967	4151	6118	SO:0001819	synonymous_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1722C>T	7.37:g.131913111G>A			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.N574	ENST00000359827.3	37	c.1722	CCDS43646.1	7																																																																																			PLXNA4	-	NULL	ENSG00000221866		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	104	0	G	NM_181775		131913111	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	silent	44.12	57	45	SNP	0.980	A	A	131913111	G	A	131913111	2	1	76	1	0	0	0	0	0	0	0	1	12161	1136	40	1		1	PLXNA4	7	131913111	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	8524380	131913111	27225552	86	19936											
CASP2	835	genome.wustl.edu	37	chr7	142989412	142989412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagtgggcagtttcaGccagaatgtggaactcctca	11	8	12	10	0	2	1	2	0	0	1	3	2	3	2	3	3	2	2	3	3	3	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:142989412G>T	ENST00000310447.5	+	3	486	c.245G>T	c.(244-246)aGc>aTc	p.S82I	CASP2_ENST00000392925.2_Missense_Mutation_p.S82I|RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	82	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.S82I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GGCAGTTTCAGCCAGAATGTG	0.453																																																	1	Substitution - Missense(1)	lung(1)											119	120	120					7																	142989412		2203	4300	6503	SO:0001583	missense	0			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"Caspases", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1503	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 57"	600639	"neural precursor cell expressed, developmentally down-regulated 2"	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.245G>T	7.37:g.142989412G>T	ENSP00000312664:p.Ser82Ile		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.S82I	ENST00000310447.5	37	c.245	CCDS5879.1	7	.	.	.	.	.	.	.	.	.	.	g	16.85	3.235399	0.58886	.	.	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.25085	1.82;1.82	5.68	1.88	0.25563	DEATH-like (2);Caspase Recruitment (3);	0.583649	0.23396	N	0.048635	T	0.28995	0.0720	L	0.44542	1.39	0.29950	N	0.820285	P;P	0.37612	0.602;0.537	P;P	0.47206	0.478;0.541	T	0.17501	-1.0367	10	0.54805	T	0.06	.	9.4194	0.38541	0.3512:0.0:0.6488:0.0	.	82;82	E9PDN0;P42575	.;CASP2_HUMAN	I	82;82;51	ENSP00000312664:S82I;ENSP00000376656:S82I	ENSP00000312664:S82I	S	+	2	0	CASP2	142699534	0.994000	0.37717	0.995000	0.50966	0.993000	0.82548	0.699000	0.25586	0.078000	0.16900	-0.145000	0.13849	AGC	CASP2	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000106144		0.453	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3		0	54	0	G	NM_032982		142989412	1			no_errors	ENST00000310447	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.998	T	T	142989412	G	T	142989412	3	4	76	1	0	0	0	0	1	0	0	0	2678	971	34	3	255	3	CASP2	7	142989412	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	11076301	142989412	16149251	87	19937											
OR2A2	442361	genome.wustl.edu	37	chr7	143807603	143807603	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccagaggaagaggtccAtgagaacggtgtatgggctt	11	8	14	8	1	0	3	0	1	0	3	2	5	2	4	2	4	1	2	2	4	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr7:143807603A>T	ENST00000408979.2	+	1	997	c.928A>T	c.(928-930)Atg>Ttg	p.M310L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GAAGAGGTCCATGAGAACGGT	0.428																																																	0													85	82	83					7																	143807603		1888	4117	6005	SO:0001583	missense	0				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.928A>T	7.37:g.143807603A>T	ENSP00000386209:p.Met310Leu		B2RN85|Q8NGT6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M310L	ENST00000408979.2	37	c.928	CCDS43671.1	7	.	.	.	.	.	.	.	.	.	.	A	0.087	-1.173323	0.01646	.	.	ENSG00000221989	ENST00000408979	T	0.01043	5.41	3.14	-5.21	0.02815	.	2.229980	0.02879	N	0.132696	T	0.00412	0.0013	N	0.00771	-1.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48468	-0.9033	10	0.15952	T	0.53	.	0.1883	0.00131	0.2365:0.1744:0.2453:0.3438	.	310	Q6IF42	OR2A2_HUMAN	L	310	ENSP00000386209:M310L	ENSP00000386209:M310L	M	+	1	0	OR2A2	143438536	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.115000	0.10741	-0.907000	0.03862	0.418000	0.28097	ATG	OR2A2	-	NULL	ENSG00000221989		0.428	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A2	HGNC	protein_coding	OTTHUMT00000349978.1	-	0	42	0	A			143807603	1	tier1	-	no_errors	ENST00000408979	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.000	T	T	143807603	A	T	143807603	3	4	76	1	0	0	0	0	1	0	0	0	11016	217	8	5	930	5	OR2A2	7	143807603	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	818191	143807603	15331060	88	19938											
MCPH1	79648	genome.wustl.edu	37	chr8	6289098	6289099	+	Frame_Shift_Ins	INS	-	-	A																															aacacttatcaagcctaattINSaaaaaaaaagtaagtacatg																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:6289098_6289099insA	ENST00000344683.5	+	4	388_389	c.312_313insA	c.(313-315)aaafs	p.K105fs	MCPH1_ENST00000522905.1_Frame_Shift_Ins_p.K105fs|MCPH1_ENST00000519480.1_Frame_Shift_Ins_p.K105fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	105					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAAGCCTAATTAAAAAAAAAGT	0.277																																					Colon(95;1448 1467 8277 34473 35819)												0																																										SO:0001589	frameshift_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.321dupA	8.37:g.6289107_6289107dupA	ENSP00000342924:p.Lys105fs		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Ins	INS	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.R107fs	ENST00000344683.5	37	c.312_313	CCDS43689.1	8																																																																																			MCPH1	-	NULL	ENSG00000147316		0.277	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2		0	46	0	-	NM_024596		6289099	1	tier1		no_errors	ENST00000344683	ensembl	human	known	74_37	frame_shift_ins	11.43	31	4	INS	0.002:0.022	A	A	6289099	-	A	6289098	7	5	76	1	0	1	1	0	0	0	0	0	9436	1742	61	0	326	0	MCPH1	8	6289098	Frame_Shift_Ins	INS	-	TCGA-L5-A88Z-01A-11D-A36J-09		6289098	140074924	89	19939											
RP1L1	94137	genome.wustl.edu	37	chr8	10466572	10466572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctttgatgggacctctgGttgcccccattgtggccttg	3	14	11	13	0	2	1	0	1	2	0	2	2	2	2	5	3	1	1	5	3	0	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:10466572G>T	ENST00000382483.3	-	4	5259	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1759					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGACCTCTGGTTGCCCCCAT	0.622																																																	0													66	72	70					8																	10466572		1999	4192	6191	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5036C>A	8.37:g.10466572G>T	ENSP00000371923:p.Thr1679Asn		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.T1679N	ENST00000382483.3	37	c.5036	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381214	0.24944	.	.	ENSG00000183638	ENST00000382483	T	0.04502	3.61	4.66	2.84	0.33178	.	1.667360	0.04203	U	0.330383	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	B	0.26744	0.158	B	0.20767	0.031	T	0.42732	-0.9434	10	0.36615	T	0.2	-0.6735	8.4623	0.32936	0.0906:0.175:0.7344:0.0	.	1679	A6NKC6	.	N	1679	ENSP00000371923:T1679N	ENSP00000371923:T1679N	T	-	2	0	RP1L1	10503982	0.067000	0.21026	0.000000	0.03702	0.067000	0.16453	2.459000	0.45023	0.568000	0.29311	0.462000	0.41574	ACC	RP1L1	-	NULL	ENSG00000183638		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	103	0	G			10466572	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.000	T	T	10466572	G	T	10466572	3	4	76	1	0	0	0	0	1	0	0	0	13578	1261	44	3	2170	3	RP1L1	8	10466572	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	4177474	10466572	135897450	90	19940											
PTK2B	2185	genome.wustl.edu	37	chr8	27296648	27296648	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacgaggactattacaaaGgtgagggggcttcccagcct	11	7	14	9	1	0	1	0	1	0	0	1	4	1	3	2	5	2	1	2	5	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:27296648G>T	ENST00000397501.1	+	24	2552	c.1744G>T	c.(1744-1746)Gcc>Tcc	p.A582S	PTK2B_ENST00000420218.2_Splice_Site_p.A582S|PTK2B_ENST00000544172.1_Splice_Site_p.A582S|PTK2B_ENST00000338238.4_Splice_Site_p.A582S|PTK2B_ENST00000517339.1_Splice_Site_p.A582S|PTK2B_ENST00000346049.5_Splice_Site_p.A582S|PTK2B_ENST00000397497.4_Splice_Site_p.A328S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	582	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	CTATTACAAAGGTGAGGGGGC	0.557																																																	0													72	69	70					8																	27296648		2203	4300	6503	SO:0001630	splice_region_variant	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"protein tyrosine kinase 2 beta", "PTK2B protein tyrosine kinase 2 beta"	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1744+1G>T	8.37:g.27296648G>T			D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A582S	ENST00000397501.1	37	c.1744	CCDS6057.1	8	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739110	0.89573	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	N	0.16368	0.405	0.80722	D	1	P;P;B	0.43826	0.818;0.668;0.179	P;P;B	0.54140	0.743;0.587;0.138	T	0.80823	-0.1210	10	0.34782	T	0.22	.	17.2336	0.86991	0.0:0.0:1.0:0.0	.	328;582;582	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	S	582;587;582;582;582;582;582;328	ENSP00000380638:A582S;ENSP00000342242:A582S;ENSP00000440926:A582S;ENSP00000332816:A582S;ENSP00000391995:A582S;ENSP00000427931:A582S;ENSP00000380634:A328S	ENSP00000342242:A582S	A	+	1	0	PTK2B	27352565	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.843000	0.99491	2.665000	0.90641	0.561000	0.74099	GCC	PTK2B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000120899		0.557	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	-	0	82	0	G	NM_004103	Missense_Mutation	27296648	1	tier1	-	no_errors	ENST00000346049	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	T	T	27296648	G	T	27296648	5	4	76	1	0	0	0	0	0	0	1	0	12806	1014	35	3	1814	3	PTK2B	8	27296648	Splice_Site	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	16830076	27296648	119067374	91	19941											
PROSC	11212	genome.wustl.edu	37	chr8	37633454	37633454	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgttattgtccctccggGaggagctgtgtaaaaagctg	9	11	13	8	1	0	0	0	0	0	0	2	2	2	2	2	2	3	5	2	2	4	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:37633454G>T	ENST00000328195.3	+	7	683	c.616G>T	c.(616-618)Gag>Tag	p.E206*		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	206					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	GTCCCTCCGGGAGGAGCTGTG	0.512																																																	0													204	200	201					8																	37633454		2203	4300	6503	SO:0001587	stop_gained	0			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"proline synthetase co-transcribed (bacterial homolog)"				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.616G>T	8.37:g.37633454G>T	ENSP00000333551:p.Glu206*		Q6FI94	Nonsense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.E206*	ENST00000328195.3	37	c.616	CCDS6096.1	8	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397963	0.83120	.	.	ENSG00000147471	ENST00000328195	.	.	.	6.07	-1.07	0.09968	.	0.839197	0.11400	N	0.567979	.	.	.	.	.	.	0.32339	N	0.559994	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	7.2884	0.26352	0.388:0.3807:0.2313:0.0	.	.	.	.	X	206	.	ENSP00000333551:E206X	E	+	1	0	PROSC	37752612	0.998000	0.40836	0.511000	0.27724	0.401000	0.30781	1.013000	0.29937	-0.387000	0.07809	-0.122000	0.15005	GAG	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	ENSG00000147471		0.512	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	-	0	64	0	G	NM_007198		37633454	1	tier1	-	no_errors	ENST00000328195	ensembl	human	known	74_37	nonsense	34.00	33	17	SNP	0.187	T	T	37633454	G	T	37633454	4	4	76	1	0	0	0	0	0	1	0	0	12601	1175	41	3	642	3	PROSC	8	37633454	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	10336806	37633454	108730568	92	19942											
EFCAB1	79645	genome.wustl.edu	37	chr8	49647678	49647678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaatttttggttaaggtGtccgtcagcttctgcagttt	6	18	10	7	1	2	0	1	0	1	0	3	0	3	0	1	2	3	5	1	2	2	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:49647678G>T	ENST00000262103.3	-	1	113	c.33C>A	c.(31-33)gaC>gaA	p.D11E	EFCAB1_ENST00000433756.1_Missense_Mutation_p.D11E|EFCAB1_ENST00000521002.1_5'UTR|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D11E	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	11							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TGGTTAAGGTGTCCGTCAGCT	0.617																																																	0													192	173	179					8																	49647678		2203	4300	6503	SO:0001583	missense	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.33C>A	8.37:g.49647678G>T	ENSP00000262103:p.Asp11Glu		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.D11E	ENST00000262103.3	37	c.33	CCDS6145.1	8	.	.	.	.	.	.	.	.	.	.	G	1.251	-0.618622	0.03663	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.71222	-0.55;-0.32;-0.55	5.04	1.94	0.25998	.	0.249076	0.46145	N	0.000304	T	0.35393	0.0930	N	0.01705	-0.755	0.40484	D	0.980471	B;B	0.12630	0.006;0.0	B;B	0.14578	0.011;0.0	T	0.38499	-0.9658	10	0.02654	T	1	.	8.7703	0.34728	0.0:0.1454:0.5551:0.2995	.	11;11	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	E	11	ENSP00000400873:D11E;ENSP00000262103:D11E;ENSP00000430765:D11E	ENSP00000262103:D11E	D	-	3	2	EFCAB1	49810231	0.973000	0.33851	0.999000	0.59377	0.397000	0.30659	-0.036000	0.12185	0.596000	0.29794	0.462000	0.41574	GAC	EFCAB1	-	NULL	ENSG00000034239		0.617	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	-	0	63	0	G	NM_024593		49647678	-1	tier1	-	no_errors	ENST00000262103	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	49647678	G	T	49647678	3	4	76	1	0	0	0	0	1	0	0	0	4947	1368	48	3	626	3	EFCAB1	8	49647678	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	12014224	49647678	96716344	93	19943											
PXDNL	137902	genome.wustl.edu	37	chr8	52359587	52359587	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttttacagtcagctgcAcagacacctttttcaccccc	8	12	7	14	0	2	1	2	0	0	1	2	1	2	1	3	1	3	3	3	1	1	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:52359587A>T	ENST00000356297.4	-	12	1602	c.1502T>A	c.(1501-1503)gTg>gAg	p.V501E	PXDNL_ENST00000543296.1_Missense_Mutation_p.V501E	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	501	Ig-like C2-type 3.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTCAGCTGCACAGACACCTT	0.458																																																	0													162	161	161					8																	52359587		2013	4174	6187	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1502T>A	8.37:g.52359587A>T	ENSP00000348645:p.Val501Glu		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.V501E	ENST00000356297.4	37	c.1502	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	A	11.45	1.642957	0.29246	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.69806	-0.43;-0.43	4.02	1.59	0.23543	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79930	0.4531	M	0.88105	2.93	0.27663	N	0.947025	D	0.58970	0.984	D	0.64410	0.925	T	0.68659	-0.5350	9	0.87932	D	0	.	5.4679	0.16654	0.7543:0.0:0.2457:0.0	.	501	A1KZ92	PXDNL_HUMAN	E	501	ENSP00000348645:V501E;ENSP00000444865:V501E	ENSP00000348645:V501E	V	-	2	0	PXDNL	52522140	1.000000	0.71417	0.354000	0.25760	0.051000	0.14879	2.255000	0.43222	0.042000	0.15717	0.383000	0.25322	GTG	PXDNL	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000147485		0.458	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1		0	54	0	A	NM_144651		52359587	-1			no_errors	ENST00000356297	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.907	T	T	52359587	A	T	52359587	3	4	76	1	0	0	0	0	1	0	0	0	12893	159	6	5	2937	5	PXDNL	8	52359587	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	2711909	52359587	94004435	94	19944											
EXT1	2131	genome.wustl.edu	37	chr8	118811971	118811971	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtcgctcaatgtctcGgtatttcttcctcaaaatag	11	14	6	10	2	5	0	3	0	2	0	8	0	6	0	1	1	0	2	1	1	6	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:118811971G>A	ENST00000378204.2	-	11	3027	c.2221C>T	c.(2221-2223)Cga>Tga	p.R741*		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	741					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TCAATGTCTCGGTATTTCTTC	0.537			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													94	87	90					8																	118811971		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"Exostosin glycosyltransferase family"	3512	protein-coding gene	gene with protein product	"Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase", "N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"	608177	"Langer-Giedion syndrome chromosome region", "exostoses (multiple) 1", "exostosin 1"	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2221C>T	8.37:g.118811971G>A	ENSP00000367446:p.Arg741*		B2R7V2|Q9BVI9	Nonsense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.R741*	ENST00000378204.2	37	c.2221	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	G	45	11.835503	0.99608	.	.	ENSG00000182197	ENST00000378204	.	.	.	5.96	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.52501	D	0.999951	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8165	14.8809	0.70531	0.0:0.0:0.7303:0.2697	.	.	.	.	X	741	.	ENSP00000367446:R741X	R	-	1	2	EXT1	118881152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.796000	0.62496	0.774000	0.33427	0.655000	0.94253	CGA	EXT1	-	NULL	ENSG00000182197		0.537	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3	-	0	74	0	G	NM_000127		118811971	-1	tier1	-	no_errors	ENST00000378204	ensembl	human	known	74_37	nonsense	33.90	39	20	SNP	1.000	A	A	118811971	G	A	118811971	4	1	76	1	0	0	0	0	0	1	0	0	5339	1124	39	1	23	1	EXT1	8	118811971	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	66452384	118811971	27552051	95	19945											
GPR172A	79581	genome.wustl.edu	37	chr8	145583536	145583536	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggcatgctgtgcctcGaatgtcactttcctgccctt	5	13	9	14	1	1	0	1	0	0	0	3	1	2	0	3	1	3	3	3	1	1	2	rs140003920	byFrequency	TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr8:145583536G>T	ENST00000532887.1	+	3	967	c.384G>T	c.(382-384)tcG>tcT	p.S128S	SLC52A2_ENST00000329994.2_Silent_p.S128S|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000527078.1_Silent_p.S128S|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Silent_p.S128S|SLC52A2_ENST00000402965.1_Silent_p.S128S|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000540505.1_Silent_p.S40S			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	128					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	GCTGTGCCTCGAATGTCACTT	0.597																																																	0													170	162	164					8																	145583536		2203	4300	6503	SO:0001819	synonymous_variant	0			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"Solute carriers"	30224	protein-coding gene	gene with protein product		607882	"G protein-coupled receptor 172A"	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.384G>T	8.37:g.145583536G>T			A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	pfam_Endogenous_retrovirus_rcpt	p.S128	ENST00000532887.1	37	c.384	CCDS6423.1	8																																																																																			SLC52A2	-	NULL	ENSG00000185803		0.597	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC52A2	HGNC	protein_coding	OTTHUMT00000382405.1		0	26	0	G	NM_024531		145583536	1			no_errors	ENST00000329994	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.993	T	T	145583536	G	T	145583536	2	4	76	1	0	0	0	0	0	0	0	1	6695	1045	37	2		2	GPR172A	8	145583536	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	26771565	145583536	780486	96	19946											
VCP	7415	genome.wustl.edu	37	chr9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T																															tagcgccaatgatgaacacaINStttttttttgtggacatgcc																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:35059646_35059647insT	ENST00000358901.6	-	14	2742_2743	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	616					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.N616fs*63(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1848dupA	9.37:g.35059655_35059655dupT	ENSP00000351777:p.Asn616fs		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.N616fs	ENST00000358901.6	37	c.1848_1847	CCDS6573.1	9																																																																																			VCP	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.515	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1		0	44	0	-	NM_007126		35059647	-1	tier1		no_errors	ENST00000358901	ensembl	human	known	74_37	frame_shift_ins	12.73	48	7	INS	1.000:1.000	T	T	35059647	-	T	35059646	7	5	76	1	0	1	1	0	0	0	0	0	17189	214	8	0	588	0	VCP	9	35059646	Frame_Shift_Ins	INS	-	TCGA-L5-A88Z-01A-11D-A36J-09		35059646	106153785	97	19947											
TMEM2	23670	genome.wustl.edu	37	chr9	74319524	74319524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatacttgttgaagttgaCgaggtatagaaatgtagtcc	14	12	10	5	1	0	3	0	2	0	1	1	4	1	3	1	1	2	4	1	1	7	7	rs138339130		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:74319524C>T	ENST00000377044.4	-	18	3720	c.3181G>A	c.(3181-3183)Gtc>Atc	p.V1061I	TMEM2_ENST00000396272.3_Missense_Mutation_p.V54I|TMEM2_ENST00000377066.5_Missense_Mutation_p.V998I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1061					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1061I(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TTGAAGTTGACGAGGTATAGA	0.428																																																	1	Substitution - Missense(1)	lung(1)						C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	105	98	100		2992,3181	2.2	1	9	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	998/1321,1061/1384	74319524	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3181G>A	9.37:g.74319524C>T	ENSP00000366243:p.Val1061Ile		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.V1061I	ENST00000377044.4	37	c.3181	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	C	4.382	0.070415	0.08436	2.27E-4	0.0	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272;ENST00000377055;ENST00000377043	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	5.58	2.18	0.27775	.	0.138874	0.64402	N	0.000007	T	0.07098	0.0180	N	0.00256	-1.76	0.29511	N	0.854227	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38693	-0.9649	10	0.02654	T	1	.	7.6415	0.28296	0.0:0.2361:0.0:0.7639	.	1061;998	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	I	1061;998;54;90;162	ENSP00000366243:V1061I;ENSP00000366266:V998I;ENSP00000379569:V54I;ENSP00000366254:V90I;ENSP00000366242:V162I	ENSP00000366242:V162I	V	-	1	0	TMEM2	73509344	1.000000	0.71417	0.992000	0.48379	0.890000	0.51754	1.189000	0.32114	0.153000	0.19213	0.561000	0.74099	GTC	TMEM2	-	NULL	ENSG00000135048		0.428	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2		0	60	0	C	NM_013390		74319524	-1			no_errors	ENST00000377044	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	74319524	C	T	74319524	3	4	76	1	0	0	0	0	1	0	0	0	16168	536	19	1	998	1	TMEM2	9	74319524	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	39259878	74319524	66893907	98	19948											
PHF2	5253	genome.wustl.edu	37	chr9	96420441	96420441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggctctcacaaatctGggaagcagctgccccctcat	9	8	8	16	0	3	0	2	0	2	0	5	1	4	1	3	2	3	3	3	2	2	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:96420441G>T	ENST00000359246.4	+	10	1529	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	388					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TCACAAATCTGGGAAGCAGCT	0.562																																																	0													50	48	49					9																	96420441		2203	4300	6503	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1162G>T	9.37:g.96420441G>T	ENSP00000352185:p.Gly388Trp		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.G388W	ENST00000359246.4	37	c.1162	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621489	0.46736	.	.	ENSG00000197724	ENST00000359246	T	0.50277	0.75	4.51	4.51	0.55191	.	0.247697	0.41500	D	0.000879	T	0.63438	0.2511	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	P	0.58520	0.84	T	0.69139	-0.5224	10	0.72032	D	0.01	-31.2114	17.3926	0.87436	0.0:0.0:1.0:0.0	.	388	O75151	PHF2_HUMAN	W	388	ENSP00000352185:G388W	ENSP00000352185:G388W	G	+	1	0	PHF2	95460262	1.000000	0.71417	1.000000	0.80357	0.473000	0.32948	4.783000	0.62403	2.299000	0.77371	0.491000	0.48974	GGG	PHF2	-	NULL	ENSG00000197724		0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0	79	0	G	NM_005392		96420441	1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	96420441	G	T	96420441	3	4	76	1	0	0	0	0	1	0	0	0	11869	1348	47	3	1200	3	PHF2	9	96420441	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	22100917	96420441	44792990	99	19949											
SMC2	10592	genome.wustl.edu	37	chr9	106864708	106864708	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcattttgttataggaaActggaggtatacttcgatct	11	15	9	6	1	1	0	0	0	1	0	2	3	1	2	0	3	3	3	0	3	5	7			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:106864708A>C	ENST00000286398.7	+	9	1162	c.874A>C	c.(874-876)Act>Cct	p.T292P	SMC2_ENST00000374787.3_Missense_Mutation_p.T292P|SMC2_ENST00000303219.8_Missense_Mutation_p.T292P|SMC2_ENST00000374793.3_Missense_Mutation_p.T292P	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	292					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GTTATAGGAAACTGGAGGTAT	0.338																																																	0													51	51	51					9																	106864708		2203	4300	6503	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.874A>C	9.37:g.106864708A>C	ENSP00000286398:p.Thr292Pro		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.T292P	ENST00000286398.7	37	c.874	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724647	0.30593	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.80304	-1.26;-1.26;-1.36;-1.26	5.58	3.24	0.37175	RecF/RecN/SMC (1);	0.509439	0.22891	N	0.054396	T	0.71160	0.3307	L	0.46157	1.445	0.24403	N	0.994697	B;B;P	0.36282	0.397;0.365;0.546	B;B;B	0.36092	0.217;0.217;0.173	T	0.58595	-0.7609	10	0.30078	T	0.28	-0.4675	7.5342	0.27700	0.6839:0.0:0.3161:0.0	.	292;292;292	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	P	292	ENSP00000286398:T292P;ENSP00000363925:T292P;ENSP00000306152:T292P;ENSP00000363919:T292P	ENSP00000286398:T292P	T	+	1	0	SMC2	105904529	1.000000	0.71417	0.996000	0.52242	0.564000	0.35744	2.308000	0.43690	0.494000	0.27859	0.528000	0.53228	ACT	SMC2	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000136824		0.338	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1	-	0	80	0	A			106864708	1	tier1	-	no_errors	ENST00000286398	ensembl	human	known	74_37	missense	44.14	62	49	SNP	0.999	C	C	106864708	A	C	106864708	3	2	76	1	0	0	0	0	1	0	0	0	14828	43	2	4	904	4	SMC2	9	106864708	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	10444267	106864708	34348723	100	19950											
KIAA1958	158405	genome.wustl.edu	37	chr9	115422317	115422317	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgttcactcaggtctccCggaggcttggctcccacagc	5	10	10	16	2	4	0	2	0	2	0	7	1	5	1	2	4	1	3	2	4	0	2	rs562492705		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:115422317C>A	ENST00000337530.6	+	4	2415	c.2119C>A	c.(2119-2121)Cgg>Agg	p.R707R	KIAA1958_ENST00000536272.1_Silent_p.R735R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	707										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						TCAGGTCTCCCGGAGGCTTGG	0.622																																																	0													54	54	54					9																	115422317		2203	4300	6503	SO:0001819	synonymous_variant	0			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.2119C>A	9.37:g.115422317C>A			B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.R735	ENST00000337530.6	37	c.2203	CCDS35108.1	9																																																																																			KIAA1958	-	NULL	ENSG00000165185		0.622	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1		0	39	0	C	NM_133465		115422317	1			no_errors	ENST00000536272	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	A	A	115422317	C	A	115422317	2	1	76	1	0	0	0	0	0	0	0	1	8291	643	23	2		2	KIAA1958	9	115422317	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	8557609	115422317	25791114	101	19951											
DBC1	1620	genome.wustl.edu	37	chr9	122001026	122001026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccagaggcccagtgcGtgtctctgtgacctgcagta	8	8	12	13	1	1	2	0	1	1	1	2	2	1	2	3	1	3	2	3	1	1	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:122001026G>T	ENST00000265922.3	-	5	1053	c.592C>A	c.(592-594)Cgc>Agc	p.R198S	BRINP1_ENST00000373964.2_Missense_Mutation_p.R198S	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	198	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGCCCAGTGCGTGTCTCTGTG	0.507																																																	0													104	77	86					9																	122001026		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.592C>A	9.37:g.122001026G>T	ENSP00000265922:p.Arg198Ser		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R198S	ENST00000265922.3	37	c.592	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260403	0.80246	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.54479	2.23;0.57	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.71005	0.3289	M	0.64404	1.975	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79784	0.988;0.993	T	0.66590	-0.5885	10	0.37606	T	0.19	-21.6133	19.2777	0.94039	0.0:0.0:1.0:0.0	.	198;198	O60477-2;O60477	.;DBC1_HUMAN	S	198	ENSP00000265922:R198S;ENSP00000363075:R198S	ENSP00000265922:R198S	R	-	1	0	DBC1	121040847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.297000	0.72757	2.794000	0.96219	0.655000	0.94253	CGC	BRINP1	-	smart_MACPF	ENSG00000078725		0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	38	0	G	NM_014618		122001026	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T	T	122001026	G	T	122001026	3	4	76	1	0	0	0	0	1	0	0	0	4256	1145	40	2	1709	2	DBC1	9	122001026	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	6578709	122001026	19212405	102	19952											
FNBP1	23048	genome.wustl.edu	37	chr9	132662716	132662716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgtacctctcacggtcCtgggcgcagttgttgactgt	6	13	11	11	2	1	1	1	1	1	0	3	1	2	1	2	2	2	4	2	2	2	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:132662716C>A	ENST00000446176.2	-	14	1725	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	FNBP1_ENST00000420781.1_Missense_Mutation_p.Q504H|FNBP1_ENST00000355681.3_Missense_Mutation_p.Q484H|FNBP1_ENST00000443566.2_Missense_Mutation_p.Q141H|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	513	Interaction with PDE6G. {ECO:0000250}.|Interaction with RND2. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TCTCACGGTCCTGGGCGCAGT	0.567			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													43	48	46					9																	132662716		2024	4178	6202	SO:0001583	missense	0			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1539G>T	9.37:g.132662716C>A	ENSP00000413625:p.Gln513His		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.Q513H	ENST00000446176.2	37	c.1539	CCDS48040.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.97|10.97	1.501236|1.501236	0.26861|0.26861	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681|ENST00000449089	T;T;T;T|.	0.73897|.	-0.79;-0.79;-0.79;-0.79|.	4.24|4.24	-0.917|-0.917	0.10485|0.10485	.|.	0.465551|.	0.22985|.	N|.	0.053277|.	T|T	0.52725|0.52725	0.1752|0.1752	L|L	0.48986|0.48986	1.54|1.54	0.46901|0.46901	D|D	0.99924|0.99924	P;P;P;B;P;P;P;P|.	0.44429|.	0.626;0.74;0.835;0.272;0.739;0.74;0.742;0.626|.	B;B;P;B;P;B;P;B|.	0.52710|.	0.289;0.396;0.707;0.308;0.605;0.289;0.482;0.289|.	T|T	0.43540|0.43540	-0.9385|-0.9385	10|5	0.36615|.	T|.	0.2|.	-34.0939|-34.0939	7.0655|7.0655	0.25149|0.25149	0.0:0.6559:0.1297:0.2144|0.0:0.6559:0.1297:0.2144	.|.	508;503;141;447;484;464;508;513|.	B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;.;FNBP1_HUMAN|.	H|M	513;513;504;513;141;484|465	ENSP00000413625:Q513H;ENSP00000407548:Q504H;ENSP00000389117:Q141H;ENSP00000347907:Q484H|.	ENSP00000347907:Q484H|.	Q|R	-|-	3|2	2|0	FNBP1|FNBP1	131702537|131702537	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.298000|0.298000	0.27526|0.27526	0.728000|0.728000	0.26013|0.26013	-0.206000|-0.206000	0.10203|0.10203	0.313000|0.313000	0.20887|0.20887	CAG|AGG	FNBP1	-	NULL	ENSG00000187239		0.567	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	-	0	68	0	C			132662716	-1	tier1	-	no_errors	ENST00000446176	ensembl	human	known	74_37	missense	5.56	67	4	SNP	1.000	A	A	132662716	C	A	132662716	3	1	76	1	0	0	0	0	1	0	0	0	5987	680	24	3	330	3	FNBP1	9	132662716	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	10661690	132662716	8550715	103	19953											
MRPS2	51116	genome.wustl.edu	37	chr9	138395958	138395958	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccaccctcctggggcTgacatgagccattccctgtg	6	8	10	17	0	0	2	0	2	0	0	2	2	2	2	6	2	2	1	6	2	0	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:138395958T>C	ENST00000371785.1	+	5	1079	c.870T>C	c.(868-870)gcT>gcC	p.A290A	C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Silent_p.A290A|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	290					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTCCTGGGGCTGACATGAGCC	0.652																																																	0													21	23	22					9																	138395958		2201	4300	6501	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.870T>C	9.37:g.138395958T>C			Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.A290	ENST00000371785.1	37	c.870	CCDS6990.1	9																																																																																			MRPS2	-	NULL	ENSG00000122140		0.652	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1		0	54	0	T			138395958	1			no_errors	ENST00000241600	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.000	C	C	138395958	T	C	138395958	2	2	76	1	0	0	0	0	0	0	0	1	9869	1567	55	4		4	MRPS2	9	138395958	Silent	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	5733242	138395958	2817473	104	19954											
CACNA1B	774	genome.wustl.edu	37	chr9	140852080	140852080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccaccaagaagagcaGaaatgacctgatccacgcag	15	3	11	12	2	0	5	0	2	0	3	1	5	1	5	4	1	2	2	4	1	3	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr9:140852080G>T	ENST00000371372.1	+	10	1419	c.1274G>T	c.(1273-1275)aGa>aTa	p.R425I	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R426I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R426I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R425I|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R425I	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	425					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGAAGAGCAGAAATGACCTG	0.587																																																	0													87	107	100					9																	140852080		2128	4244	6372	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1274G>T	9.37:g.140852080G>T	ENSP00000360423:p.Arg425Ile		B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R426I	ENST00000371372.1	37	c.1277	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	g	16.48	3.134698	0.56828	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.18;-3.18	5.17	3.07	0.35406	.	0.063063	0.64402	U	0.000009	D	0.86389	0.5921	L	0.34521	1.04	0.80722	D	1	P	0.41748	0.761	B	0.38562	0.276	D	0.83870	0.0273	10	0.66056	D	0.02	.	4.1486	0.10227	0.5056:0.0:0.4944:0.0	.	425	B1AQK6	.	I	425;425;425;426;426	ENSP00000360423:R425I;ENSP00000277551:R425I;ENSP00000360414:R425I;ENSP00000360408:R426I;ENSP00000360406:R426I	ENSP00000277551:R425I	R	+	2	0	CACNA1B	139971901	0.999000	0.42202	0.743000	0.31040	0.833000	0.47200	3.927000	0.56499	1.199000	0.43173	0.299000	0.19835	AGA	CACNA1B	-	NULL	ENSG00000148408		0.587	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1		0	53	0	G	NM_000718		140852080	1			no_errors	ENST00000371355	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.985	T	T	140852080	G	T	140852080	3	4	76	1	0	0	0	0	1	0	0	0	2546	942	33	3	1312	3	CACNA1B	9	140852080	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2456122	140852080	361351	105	19955											
ZEB1	6935	genome.wustl.edu	37	chr10	31799649	31799649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtccatattgtgataGaggctataaacgctttacct	11	13	7	10	1	0	2	0	1	0	1	1	2	1	2	3	1	2	2	3	1	6	7			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:31799649G>T	ENST00000320985.10	+	5	640	c.530G>T	c.(529-531)aGa>aTa	p.R177I	ZEB1_ENST00000560721.2_Missense_Mutation_p.R157I|ZEB1_ENST00000361642.5_Missense_Mutation_p.R178I|ZEB1_ENST00000446923.2_Missense_Mutation_p.R161I|ZEB1_ENST00000542815.3_Missense_Mutation_p.R110I|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	177					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TATTGTGATAGAGGCTATAAA	0.323																																					Ovarian(40;423 959 14296 36701 49589)												0													74	72	72					10																	31799649		2203	4300	6503	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.530G>T	10.37:g.31799649G>T	ENSP00000319248:p.Arg177Ile		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.R178I	ENST00000320985.10	37	c.533	CCDS7169.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.271754|5.271754	0.95429|0.95429	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000543514|ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000446923	.|T;T;T;T;T	.|0.28666	.|1.6;1.6;1.6;1.6;1.6	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.081866	.|0.52532	.|D	.|0.000075	.|T	.|0.57681	.|0.2070	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.999;0.999;1.0;0.999;0.999	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.998;0.996;0.996;0.996;0.999;0.996;0.996	.|T	.|0.57470	.|-0.7806	.|10	.|0.87932	.|D	.|0	.|-20.1634	20.1174|20.1174	0.97942|0.97942	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|110;177;161;177;177;157;178;177	.|F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.|.;.;.;.;.;.;.;ZEB1_HUMAN	.|I	-1|177;178;177;110;177;157;36;178;161	.|ENSP00000354487:R178I;ENSP00000444891:R110I;ENSP00000319248:R177I;ENSP00000415961:R178I;ENSP00000391612:R161I	.|ENSP00000319248:R177I	.|R	+|+	.|2	.|0	ZEB1|ZEB1	31839655|31839655	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.388000|9.388000	0.97237|0.97237	2.771000|2.771000	0.95319|0.95319	0.591000|0.591000	0.81541|0.81541	.|AGA	ZEB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000148516		0.323	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	-	0	52	0	G	NM_030751		31799649	1	tier1	-	no_errors	ENST00000361642	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	31799649	G	T	31799649	3	4	76	1	0	0	0	0	1	0	0	0	17671	942	33	3	562	3	ZEB1	10	31799649	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		31799649	103735098	106	19956											
ERCC6	2074	genome.wustl.edu	37	chr10	50691461	50691461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgtccaagatcacataGtgccagtcatacctgctaat	11	11	6	13	1	2	1	2	0	0	1	4	1	3	1	4	0	3	1	4	0	4	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:50691461G>T	ENST00000355832.5	-	9	2001	c.1923C>A	c.(1921-1923)caC>caA	p.H641Q	ERCC6_ENST00000542458.1_Missense_Mutation_p.H11Q	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	641	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGATCACATAGTGCCAGTCAT	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													179	150	160					10																	50691461		2203	4300	6503	SO:0001583	missense	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"Cockayne syndrome B protein"	609413	"excision repair cross-complementing rodent repair deficiency, complementation group 6"	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1923C>A	10.37:g.50691461G>T	ENSP00000348089:p.His641Gln		D3DX94|Q5W0L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H641Q	ENST00000355832.5	37	c.1923	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738591	0.49045	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.92647	-3.08;-3.08	5.5	2.41	0.29592	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.89774	0.6812	L	0.31804	0.96	0.53688	D	0.999973	P;B	0.51057	0.941;0.051	P;B	0.55577	0.779;0.262	D	0.85399	0.1130	9	0.36615	T	0.2	-19.6825	8.1549	0.31162	0.4316:0.0:0.5684:0.0	.	641;50	Q03468;Q59FF6	ERCC6_HUMAN;.	Q	641;50;11	ENSP00000348089:H641Q;ENSP00000445134:H11Q	ENSP00000348089:H641Q	H	-	3	2	ERCC6	50361467	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	1.632000	0.37102	0.318000	0.23185	-0.813000	0.03139	CAC	ERCC6	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000225830		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0	97	0	G	NM_000124		50691461	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	missense	42.00	58	42	SNP	1.000	T	T	50691461	G	T	50691461	3	4	76	1	0	0	0	0	1	0	0	0	5233	1020	36	3	2610	3	ERCC6	10	50691461	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	18891812	50691461	84843286	107	19957											
CHAT	1103	genome.wustl.edu	37	chr10	50828613	50828613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaactccagccctgccGtgatctttgctcggcagcac	6	10	9	16	2	2	1	1	1	1	0	4	1	3	1	3	1	5	3	3	1	1	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:50828613G>T	ENST00000337653.2	+	4	805	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L	CHAT_ENST00000339797.1_Missense_Mutation_p.V100L|CHAT_ENST00000395562.2_Missense_Mutation_p.V136L|CHAT_ENST00000395559.2_Missense_Mutation_p.V100L|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000351556.3_Missense_Mutation_p.V100L|CHAT_ENST00000455728.2_Missense_Mutation_p.V100L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	218					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAGCCCTGCCGTGATCTTTGC	0.622																																																	0													120	94	103					10																	50828613		2203	4300	6503	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.652G>T	10.37:g.50828613G>T	ENSP00000337103:p.Val218Leu		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.V218L	ENST00000337653.2	37	c.652	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309041	0.40895	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.57	3.65	0.41850	.	0.166295	0.53938	N	0.000045	T	0.63010	0.2475	L	0.31420	0.93	0.35660	D	0.812443	B;B	0.13594	0.004;0.008	B;B	0.20384	0.006;0.029	T	0.61058	-0.7139	10	0.56958	D	0.05	-17.2718	4.0967	0.09995	0.1029:0.1409:0.5768:0.1795	.	100;218	F8W8I2;P28329	.;CLAT_HUMAN	L	100;100;100;218;136;100	ENSP00000343486:V100L;ENSP00000345878:V100L;ENSP00000378926:V100L;ENSP00000337103:V218L;ENSP00000378929:V136L;ENSP00000390521:V100L	ENSP00000337103:V218L	V	+	1	0	CHAT	50498619	0.999000	0.42202	0.963000	0.40424	0.806000	0.45545	3.462000	0.53042	0.640000	0.30582	0.561000	0.74099	GTG	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.622	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	62	0	G	NM_020549		50828613	1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.894	T	T	50828613	G	T	50828613	3	4	76	1	0	0	0	0	1	0	0	0	3320	1145	40	2	710	2	CHAT	10	50828613	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	137152	50828613	84706134	108	19958											
PRKG1	5592	genome.wustl.edu	37	chr10	53814276	53814276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggagaatatattatcagGcaaggtgcaagaggggacac	16	7	13	5	0	1	2	1	0	0	2	1	4	1	3	0	5	1	2	0	5	7	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:53814276G>A	ENST00000401604.2	+	6	944	c.750G>A	c.(748-750)agG>agA	p.R250R	PRKG1_ENST00000373975.2_5'UTR|PRKG1_ENST00000373985.1_Silent_p.R238R|PRKG1_ENST00000373980.4_Silent_p.R265R			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	250	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATATTATCAGGCAAGGTGCAA	0.428																																																	0													106	95	99					10																	53814276		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.750G>A	10.37:g.53814276G>A			A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Silent	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom	p.R265	ENST00000401604.2	37	c.795	CCDS44399.1	10																																																																																			PRKG1	-	pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom	ENSG00000185532		0.428	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		-	0	47	0	G			53814276	1	tier1	-	no_errors	ENST00000373980	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	A	A	53814276	G	A	53814276	2	1	76	1	0	0	0	0	0	0	0	1	12564	1194	42	3		3	PRKG1	10	53814276	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2985663	53814276	81720471	109	19959											
VCL	7414	genome.wustl.edu	37	chr10	75860775	75860775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctacggccgagaaggcgGctgcggttggtactgctaat	7	9	16	9	4	0	1	0	0	0	1	0	2	0	1	1	5	5	5	1	5	4	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:75860775G>A	ENST00000211998.4	+	14	2036	c.1942G>A	c.(1942-1944)Gct>Act	p.A648T	VCL_ENST00000372755.3_Missense_Mutation_p.A648T|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	648	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CGAGAAGGCGGCTGCGGTTGG	0.473																																																	0													56	54	54					10																	75860775		2203	4300	6503	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1942G>A	10.37:g.75860775G>A	ENSP00000211998:p.Ala648Thr		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.A648T	ENST00000211998.4	37	c.1942	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.564045	0.96527	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.51071	0.72;0.72;0.72	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	M	0.74647	2.275	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.984;0.991;0.989	T	0.73767	-0.3879	10	0.72032	D	0.01	.	18.7576	0.91838	0.0:0.0:1.0:0.0	.	575;648;648	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	T	648;648;555;575;320	ENSP00000361841:A648T;ENSP00000211998:A648T;ENSP00000415489:A320T	ENSP00000211998:A648T	A	+	1	0	VCL	75530781	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	9.154000	0.94694	2.496000	0.84212	0.655000	0.94253	GCT	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.473	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0	65	0	G	NM_003373, NM_014000		75860775	1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	75860775	G	A	75860775	3	1	76	1	0	0	0	0	1	0	0	0	17188	1203	42	3	1996	3	VCL	10	75860775	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	22046499	75860775	59673972	110	19960											
ENTPD1	953	genome.wustl.edu	37	chr10	97607215	97607215	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcaggttgcaagtaatGaaattctcagggacccatgc	12	10	9	10	0	2	1	2	1	1	0	3	2	2	2	2	2	2	3	2	2	3	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:97607215G>T	ENST00000371205.4	+	7	1109	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	ENTPD1_ENST00000543964.1_Nonsense_Mutation_p.E168*|ENTPD1_ENST00000371207.3_Nonsense_Mutation_p.E288*|ENTPD1_ENST00000453258.2_Nonsense_Mutation_p.E283*|ENTPD1_ENST00000539125.1_Nonsense_Mutation_p.E138*|ENTPD1_ENST00000371203.5_Nonsense_Mutation_p.E138*|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	276					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGCAAGTAATGAAATTCTCAG	0.408																																																	0													114	111	112					10																	97607215		2203	4300	6503	SO:0001587	stop_gained	0			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.826G>T	10.37:g.97607215G>T	ENSP00000360248:p.Glu276*		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Nonsense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.E288*	ENST00000371205.4	37	c.862	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478523	0.63849	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	.	.	.	5.77	3.92	0.45320	.	0.886155	0.10151	N	0.709652	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5621	5.8763	0.18830	0.1598:0.0:0.6867:0.1535	.	.	.	.	X	283;288;168;138;138;276	.	ENSP00000360246:E138X	E	+	1	0	ENTPD1	97597205	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	1.022000	0.30052	0.905000	0.36596	0.650000	0.86243	GAA	ENTPD1	-	pfam_GDA1_CD39_NTPase	ENSG00000138185		0.408	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	HGNC	protein_coding	OTTHUMT00000049566.1	-	0	70	0	G	NM_001776		97607215	1	tier1	-	no_errors	ENST00000371207	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.000	T	T	97607215	G	T	97607215	4	4	76	1	0	0	0	0	0	1	0	0	5154	1291	45	3	949	3	ENTPD1	10	97607215	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	21746440	97607215	37927532	111	19961											
ERLIN1	10613	genome.wustl.edu	37	chr10	101912010	101912010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcaaagcacatgaggagtCcacgaacatgttagggatgt	13	10	11	7	1	1	1	1	1	0	0	2	4	2	3	1	2	2	2	1	2	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:101912010C>T	ENST00000421367.2	-	11	3632	c.925G>A	c.(925-927)Gac>Aac	p.D309N	ERLIN1_ENST00000407654.3_Missense_Mutation_p.D309N	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	307					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)							Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CATGAGGAGTCCACGAACATG	0.458																																																	0													123	119	120					10																	101912010		2203	4300	6503	SO:0001583	missense	0			AF064093	CCDS7487.2	10q24.31	2014-03-03	2007-01-26	2007-01-26	ENSG00000107566	ENSG00000107566			16947	protein-coding gene	gene with protein product	"Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9"	611604	"chromosome 10 open reading frame 69", "SPFH domain family, member 1"	C10orf69, SPFH1		11118313, 16835267, 24482476	Standard	NM_006459		Approved	KE04, Erlin-1, SPG62	uc001kqo.4	O75477	OTTHUMG00000018900	ENST00000421367.2:c.925G>A	10.37:g.101912010C>T	ENSP00000410964:p.Asp309Asn		B0QZ42|Q53HV0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.D309N	ENST00000421367.2	37	c.925	CCDS7487.2	10	.	.	.	.	.	.	.	.	.	.	C	33	5.201392	0.94997	.	.	ENSG00000107566	ENST00000421367;ENST00000407654	T;T	0.66460	-0.21;-0.21	5.61	5.61	0.85477	.	0.240630	0.39544	U	0.001340	T	0.68229	0.2978	L	0.52573	1.65	0.80722	D	1	P;P	0.41313	0.745;0.745	P;P	0.44394	0.448;0.448	T	0.70256	-0.4922	10	0.59425	D	0.04	-10.4386	17.5007	0.87731	0.0:1.0:0.0:0.0	.	307;309	O75477;D3DR65	ERLN1_HUMAN;.	N	309	ENSP00000410964:D309N;ENSP00000384900:D309N	ENSP00000384900:D309N	D	-	1	0	ERLIN1	101902000	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.206000	0.77891	2.815000	0.96918	0.561000	0.74099	GAC	ERLIN1	-	NULL	ENSG00000107566		0.458	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN1	HGNC	protein_coding	OTTHUMT00000049840.2	-	0	96	0	C	NM_006459		101912010	-1	tier1	-	no_errors	ENST00000407654	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	T	T	101912010	C	T	101912010	3	4	76	1	0	0	0	0	1	0	0	0	5248	855	30	3	125	3	ERLIN1	10	101912010	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	4304795	101912010	33622737	112	19962											
CWF19L1	55280	genome.wustl.edu	37	chr10	101995434	101995434	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacataccttccaaactGcaaaggaaaattctttttaa	19	11	3	8	0	1	0	0	0	1	0	2	1	2	1	2	1	4	1	2	1	8	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:101995434G>A	ENST00000354105.4	-	13	1548	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Nonsense_Mutation_p.Q203*|SNORA12_ENST00000391162.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	488							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CTTCCAAACTGCAAAGGAAAA	0.353																																																	0													67	65	65					10																	101995434		2203	4300	6503	SO:0001587	stop_gained	0			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1462C>T	10.37:g.101995434G>A	ENSP00000326411:p.Gln488*		B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Nonsense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.Q488*	ENST00000354105.4	37	c.1462	CCDS7489.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.180005	0.97352	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	.	.	.	5.29	5.29	0.74685	.	0.051620	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.3323	16.4413	0.83901	0.0:0.0:1.0:0.0	.	.	.	.	X	488;203	.	ENSP00000326411:Q488X	Q	-	1	0	CWF19L1	101985424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.059000	0.93902	2.490000	0.84030	0.563000	0.77884	CAG	CWF19L1	-	pfam_Cwf19-like_C_dom-2	ENSG00000095485		0.353	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding		-	0	40	0	G	NM_018294		101995434	-1	tier1	-	no_errors	ENST00000354105	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	A	A	101995434	G	A	101995434	4	1	76	1	0	0	0	0	0	1	0	0	4080	1328	46	3	162	3	CWF19L1	10	101995434	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	83424	101995434	33539313	113	19963											
CNNM2	54805	genome.wustl.edu	37	chr10	104809565	104809565	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttagaagatgtgattgaaGaaatcatcaaatctgagatt	16	12	8	5	0	3	6	2	3	1	4	3	7	3	6	1	0	0	0	1	0	5	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr10:104809565G>T	ENST00000369878.4	+	2	1911	c.1723G>T	c.(1723-1725)Gaa>Taa	p.E575*	CNNM2_ENST00000433628.2_Nonsense_Mutation_p.E575*	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	575	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTGATTGAAGAAATCATCAA	0.388																																																	0													123	124	123					10																	104809565		1871	4116	5987	SO:0001587	stop_gained	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1723G>T	10.37:g.104809565G>T	ENSP00000358894:p.Glu575*		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Nonsense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.E575*	ENST00000369878.4	37	c.1723	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.731870	0.98459	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6562	0.95842	0.0:0.0:1.0:0.0	.	.	.	.	X	575	.	ENSP00000286899:E575X	E	+	1	0	CNNM2	104799555	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.363000	0.97131	2.639000	0.89480	0.555000	0.69702	GAA	CNNM2	-	NULL	ENSG00000148842		0.388	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	-	0	103	0	G	NM_017649		104809565	1	tier1	-	no_errors	ENST00000369878	ensembl	human	known	74_37	nonsense	33.71	59	30	SNP	1.000	T	T	104809565	G	T	104809565	4	4	76	1	0	0	0	0	0	1	0	0	3620	943	33	3	1771	3	CNNM2	10	104809565	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2814131	104809565	30725182	114	19964											
MUC5B	727897	genome.wustl.edu	37	chr11	1260766	1260766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccggaaccccagtgggCactgcctggtggacctgcct	5	7	13	16	1	0	0	0	0	0	0	0	2	0	2	7	4	4	1	7	4	1	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:1260766C>A	ENST00000529681.1	+	27	3611	c.3553C>A	c.(3553-3555)Cac>Aac	p.H1185N	MUC5B_ENST00000447027.1_Missense_Mutation_p.H1188N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1185	Cys-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGTGGGCACTGCCTGGT	0.637																																																	0													43	54	51					11																	1260766		2007	4172	6179	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3553C>A	11.37:g.1260766C>A	ENSP00000436812:p.His1185Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.H1188N	ENST00000529681.1	37	c.3562	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	15.84	2.952983	0.53293	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.54071	0.59;0.59	4.84	2.72	0.32119	.	.	.	.	.	T	0.37892	0.1020	N	0.20574	0.59	0.09310	N	1	B;B	0.20368	0.015;0.044	B;B	0.14578	0.005;0.011	T	0.36744	-0.9735	9	0.87932	D	0	.	11.1262	0.48320	0.6261:0.3739:0.0:0.0	.	1878;1188	A7Y9J9;E9PBJ0	.;.	N	1185;1188;1186;1255	ENSP00000436812:H1185N;ENSP00000415793:H1188N	ENSP00000343037:H1186N	H	+	1	0	MUC5B	1217342	0.093000	0.21703	0.001000	0.08648	0.971000	0.66376	3.692000	0.54727	0.999000	0.39023	0.462000	0.41574	CAC	MUC5B	-	superfamily_TIL_dom	ENSG00000117983		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	135	0	C	XM_001126093		1260766	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	31.34	92	42	SNP	0.037	A	A	1260766	C	A	1260766	3	1	76	1	0	0	0	0	1	0	0	0	10017	710	25	3	3668	3	MUC5B	11	1260766	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09		1260766	133745750	115	19965											
MICALCL	84953	genome.wustl.edu	37	chr11	12315446	12315446	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagaagaccgggaaaaAgggagtactggagccaggaa	15	3	17	6	1	0	2	0	0	0	2	0	7	0	6	2	5	2	2	2	5	5	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:12315446A>G	ENST00000256186.2	+	3	759	c.468A>G	c.(466-468)aaA>aaG	p.K156K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	156					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACCGGGAAAAAGGGAGTACTG	0.562																																																	0													61	70	67					11																	12315446		1953	4135	6088	SO:0001819	synonymous_variant	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.468A>G	11.37:g.12315446A>G			Q7RTP7|Q96JU6	Silent	SNP	pfam_DUF3585,smart_ProQ/FinO	p.K156	ENST00000256186.2	37	c.468	CCDS41620.1	11																																																																																			MICALCL	-	NULL	ENSG00000133808		0.562	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	-	0	69	0	A	NM_032867		12315446	1	tier1	-	no_errors	ENST00000256186	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.000	G	G	12315446	A	G	12315446	2	3	76	1	0	0	0	0	0	0	0	1	9610	69	3	4		4	MICALCL	11	12315446	Silent	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	11054680	12315446	122691070	116	19966											
DDB2	1643	genome.wustl.edu	37	chr11	47237962	47237962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctgccaccatgccgcaGcatcgtcaggaccctccacc	8	6	8	19	2	1	0	1	0	0	0	4	2	3	1	7	1	3	2	7	1	0	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:47237962G>A	ENST00000256996.4	+	2	398	c.203G>A	c.(202-204)aGc>aAc	p.S68N	DDB2_ENST00000378601.3_Missense_Mutation_p.S68N|DDB2_ENST00000378603.3_Missense_Mutation_p.S68N|DDB2_ENST00000378600.3_Missense_Mutation_p.S68N	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	68	Required for interaction with DDB1.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CCATGCCGCAGCATCGTCAGG	0.557			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0													65	64	64					11																	47237962		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.203G>A	11.37:g.47237962G>A	ENSP00000256996:p.Ser68Asn		B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S68N	ENST00000256996.4	37	c.203	CCDS7927.1	11	.	.	.	.	.	.	.	.	.	.	G	9.123	1.009356	0.19277	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600;ENST00000378601	T;T;T;T	0.80393	-0.94;-0.51;-1.37;0.34	5.01	2.17	0.27698	.	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	L	0.58101	1.795	0.45822	D	0.998694	B;B;B;B	0.17465	0.002;0.022;0.022;0.0	B;B;B;B	0.14578	0.011;0.011;0.011;0.001	T	0.59048	-0.7527	10	0.17369	T	0.5	-10.455	7.7444	0.28860	0.2611:0.0:0.7389:0.0	.	68;68;68;68	Q92466-4;Q92466-3;Q92466-2;Q92466	.;.;.;DDB2_HUMAN	N	68	ENSP00000256996:S68N;ENSP00000367866:S68N;ENSP00000367863:S68N;ENSP00000367864:S68N	ENSP00000256996:S68N	S	+	2	0	DDB2	47194538	0.997000	0.39634	0.765000	0.31456	0.012000	0.07955	1.302000	0.33459	0.316000	0.23135	-0.136000	0.14681	AGC	DDB2	-	NULL	ENSG00000134574		0.557	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	HGNC	protein_coding		-	0	81	0	G	NM_000107		47237962	1	tier1	-	no_errors	ENST00000256996	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.981	A	A	47237962	G	A	47237962	3	1	76	1	0	0	0	0	1	0	0	0	4333	971	34	3	209	3	DDB2	11	47237962	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	34922516	47237962	87768554	117	19967											
PTPRJ	5795	genome.wustl.edu	37	chr11	48131629	48131630	+	Splice_Site	DEL	GT	GT	-																															gatcctgtgcgcaggtggcaGtgagtacccttttcctctct																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:48131629_48131630delGT	ENST00000418331.2	+	2	467		c.e2+1		PTPRJ_ENST00000526550.1_Splice_Site|PTPRJ_ENST00000440289.2_Splice_Site	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J						contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGGTGGCAGTGAGTACCCTT	0.411											OREG0020960	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001630	splice_region_variant	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.115+1GT>-	11.37:g.48131629_48131630delGT		952	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Splice_Site	DEL	-	e2+1	ENST00000418331.2	37	c.115+1_115+1	CCDS7945.1	11																																																																																			PTPRJ	-	-	ENSG00000149177		0.411	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1		0	19	0	GT		Intron	48131630	1	tier1		no_errors	ENST00000418331	ensembl	human	known	74_37	splice_site_del	37.93	18	11	DEL	0.988:0.998	-	-	48131630	GT	-	48131629	8	5	76	1	0	1	0	1	0	0	1	0	12849	1043	36	0	122	0	PTPRJ	11	48131629	Splice_Site	DEL	GT	TCGA-L5-A88Z-01A-11D-A36J-09	893667	48131629	86874887	118	19968											
OR4A5	81318	genome.wustl.edu	37	chr11	51412174	51412174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaattaacttgggagaaatGgtagtggaatatgcagcatc	15	10	11	5	0	0	1	0	0	0	1	1	3	0	2	0	3	3	3	0	3	6	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:51412174G>A	ENST00000319760.6	-	1	274	c.222C>T	c.(220-222)acC>acT	p.T74T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGGGAGAAATGGTAGTGGAAT	0.423																																																	0													58	59	59					11																	51412174		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.222C>T	11.37:g.51412174G>A			Q6IF84	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T74	ENST00000319760.6	37	c.222	CCDS31497.1	11																																																																																			OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221840		0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	-	0	52	0	G	NM_001005272		51412174	-1	tier1	-	no_errors	ENST00000319760	ensembl	human	known	74_37	silent	43.64	31	24	SNP	0.076	A	A	51412174	G	A	51412174	2	1	76	1	0	0	0	0	0	0	0	1	11082	1335	47	3		3	OR4A5	11	51412174	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	3280545	51412174	83594342	119	19969											
OR5B2	390190	genome.wustl.edu	37	chr11	58190660	58190660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaaggtgaacaagataaaGagggggatctgtagttctgg	14	9	15	3	0	2	4	0	2	2	2	2	5	2	5	0	4	1	2	0	4	6	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:58190660G>A	ENST00000302581.2	-	1	126	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACAAGATAAAGAGGGGGATCT	0.453																																																	0													105	99	101					11																	58190660		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"GPCR / Class A : Olfactory receptors"	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.75C>T	11.37:g.58190660G>A			B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L25	ENST00000302581.2	37	c.75	CCDS31550.1	11																																																																																			OR5B2	-	prints_GPCR_Rhodpsn	ENSG00000172365		0.453	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B2	HGNC	protein_coding	OTTHUMT00000394887.2	-	0	88	0	G	NM_001005566		58190660	-1	tier1	-	no_errors	ENST00000302581	ensembl	human	known	74_37	silent	35.37	53	29	SNP	0.995	A	A	58190660	G	A	58190660	2	1	76	1	0	0	0	0	0	0	0	1	11189	929	33	3		3	OR5B2	11	58190660	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	6778486	58190660	76815856	120	19970											
VPS37C	55048	genome.wustl.edu	37	chr11	60899316	60899316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggccaggcaggcccCggcggtggtgggaacccata	8	4	15	14	2	0	0	0	0	0	0	0	1	0	1	5	7	2	1	5	7	3	2	rs560010024		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:60899316C>T	ENST00000301765.5	-	5	1276	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	348	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						AGGCAGGCCCCGGCGGTGGTG	0.697																																																	0													4	4	4					11																	60899316		1922	3928	5850	SO:0001819	synonymous_variant	0			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.1044G>A	11.37:g.60899316C>T			Q8N3K4	Silent	SNP	pfam_Mod_r	p.P348	ENST00000301765.5	37	c.1044	CCDS31573.1	11																																																																																			VPS37C	-	NULL	ENSG00000167987		0.697	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	HGNC	protein_coding	OTTHUMT00000396467.1	-	0	78	0	C	NM_017966		60899316	-1	tier1	-	no_errors	ENST00000301765	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.572	T	T	60899316	C	T	60899316	2	4	76	1	0	0	0	0	0	0	0	1	17256	639	23	1		1	VPS37C	11	60899316	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	2708656	60899316	74107200	121	19971											
C11orf84	144097	genome.wustl.edu	37	chr11	63585506	63585506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaccctcacaccttggaCctgagcccttctgagaagag	10	7	9	15	0	2	3	1	2	1	2	2	5	2	4	4	1	2	1	4	1	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:63585506C>T	ENST00000294244.4	+	2	656	c.357C>T	c.(355-357)gaC>gaT	p.D119D		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	119										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						ACACCTTGGACCTGAGCCCTT	0.637																																																	0													77	77	77					11																	63585506		2201	4298	6499	SO:0001819	synonymous_variant	0			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.357C>T	11.37:g.63585506C>T			Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	NULL	p.D119	ENST00000294244.4	37	c.357	CCDS31594.1	11																																																																																			C11orf84	-	NULL	ENSG00000168005		0.637	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	-	0	46	0	C	NM_138471		63585506	1	tier1	-	no_errors	ENST00000294244	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T	T	63585506	C	T	63585506	2	4	76	1	0	0	0	0	0	0	0	1	1672	506	18	3		3	C11orf84	11	63585506	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	2686190	63585506	71421010	122	19972											
B3GNT1	11041	genome.wustl.edu	37	chr11	66113575	66113575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactcctgtttgaactggCgatataggatcttattgtgc	9	15	9	8	1	2	1	1	1	1	0	3	3	3	2	1	2	3	1	1	2	5	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:66113575C>T	ENST00000311181.4	-	2	1339	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	398					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TTTGAACTGGCGATATAGGAT	0.502																																																	0													280	253	262					11																	66113575		2200	4295	6495	SO:0001583	missense	0			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"Beta 3-glycosyltransferases"	15685	protein-coding gene	gene with protein product	"N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"	605517	"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.1193G>A	11.37:g.66113575C>T	ENSP00000309096:p.Arg398His		Q4TTN0	Missense_Mutation	SNP	NULL	p.R398H	ENST00000311181.4	37	c.1193	CCDS8136.1	11	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684878	0.68157	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.24151	1.87	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	M	0.69823	2.125	0.80722	D	1	D	0.54047	0.964	B	0.43680	0.427	T	0.23833	-1.0177	10	0.51188	T	0.08	-17.1806	16.4446	0.83913	0.0:1.0:0.0:0.0	.	398	O43505	B3GN1_HUMAN	H	398;169	ENSP00000309096:R398H	ENSP00000309096:R398H	R	-	2	0	B3GNT1	65870151	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.335000	0.79234	2.482000	0.83794	0.655000	0.94253	CGC	B3GNT1	-	NULL	ENSG00000174684		0.502	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT1	HGNC	protein_coding	OTTHUMT00000392959.1		0	41	0	C	NM_006876		66113575	-1			no_errors	ENST00000311181	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	66113575	C	T	66113575	3	4	76	1	0	0	0	0	1	0	0	0	1257	768	27	1	58	1	B3GNT1	11	66113575	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	2528069	66113575	68892941	123	19973											
PHOX2A	401	genome.wustl.edu	37	chr11	71952305	71952305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcttctcgtgcaggccGgatggctctgggaagaactt	6	11	14	10	3	2	1	0	0	2	1	3	3	2	3	1	4	3	3	1	4	2	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:71952305G>A	ENST00000298231.5	-	2	417	c.246C>T	c.(244-246)tcC>tcT	p.S82S	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	82					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						CGTGCAGGCCGGATGGCTCTG	0.652																																																	0													38	36	37					11																	71952305		2200	4293	6493	SO:0001819	synonymous_variant	0			AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"Homeoboxes / PRD class"	691	protein-coding gene	gene with protein product		602753	"aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive", "paired-like (aristaless) homeobox 2a"	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.246C>T	11.37:g.71952305G>A			A8K3N0|Q8IVZ2	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S82	ENST00000298231.5	37	c.246	CCDS8214.1	11																																																																																			PHOX2A	-	superfamily_Homeodomain-like	ENSG00000165462		0.652	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOX2A	HGNC	protein_coding	OTTHUMT00000396885.1	-	0	28	0	G	NM_005169		71952305	-1	tier1	-	no_errors	ENST00000298231	ensembl	human	known	74_37	silent	27.78	13	5	SNP	0.916	A	A	71952305	G	A	71952305	2	1	76	1	0	0	0	0	0	0	0	1	11897	1103	39	1		1	PHOX2A	11	71952305	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	5838730	71952305	63054211	124	19974											
POLD3	10714	genome.wustl.edu	37	chr11	74323975	74323975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgtgtacagcatccaGaaagccatgctaaaggacag	15	7	9	10	0	0	1	0	0	0	1	2	2	2	2	3	1	4	3	3	1	4	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:74323975G>T	ENST00000263681.2	+	5	441	c.312G>T	c.(310-312)caG>caT	p.Q104H	POLD3_ENST00000532497.1_5'UTR|POLD3_ENST00000527458.1_Missense_Mutation_p.Q65H	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	104					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACAGCATCCAGAAAGCCATGC	0.443																																																	0													163	135	145					11																	74323975		2200	4293	6493	SO:0001583	missense	0			D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"DNA polymerases"	20932	protein-coding gene	gene with protein product	"DNA polymerase delta subunit p66", "Pol delta C subunit (p66)", "protein phosphatase 1, regulatory subunit 128"	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.312G>T	11.37:g.74323975G>T	ENSP00000263681:p.Gln104His		B7ZAI6|Q32MZ9|Q32N00	Missense_Mutation	SNP	pfam_DNA_polymerase_subunit_Cdc27	p.Q104H	ENST00000263681.2	37	c.312	CCDS8233.1	11	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634590	0.67130	.	.	ENSG00000077514	ENST00000528481;ENST00000263681;ENST00000527458;ENST00000538052;ENST00000530511;ENST00000531615	.	.	.	5.68	5.68	0.88126	.	0.060021	0.64402	D	0.000002	T	0.76227	0.3958	M	0.71581	2.175	0.80722	D	1	D	0.57571	0.98	P	0.61201	0.885	T	0.74760	-0.3556	9	0.39692	T	0.17	-29.5304	17.2989	0.87176	0.0:0.0:1.0:0.0	.	104	Q15054	DPOD3_HUMAN	H	65;104;65;104;65;65	.	ENSP00000263681:Q104H	Q	+	3	2	POLD3	74001623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.202000	0.77856	2.672000	0.90937	0.557000	0.71058	CAG	POLD3	-	pfam_DNA_polymerase_subunit_Cdc27	ENSG00000077514		0.443	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD3	HGNC	protein_coding	OTTHUMT00000385376.1	-	0	65	0	G	NM_006591		74323975	1	tier1	-	no_errors	ENST00000263681	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	74323975	G	T	74323975	3	4	76	1	0	0	0	0	1	0	0	0	12231	933	33	3	330	3	POLD3	11	74323975	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2371670	74323975	60682541	125	19975											
NARS2	79731	genome.wustl.edu	37	chr11	78282480	78282480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggatcggacagaacGaatccatccctaaggaagag	13	7	11	10	2	1	2	0	0	1	2	4	6	3	5	2	3	1	0	2	3	4	2	rs367584549		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:78282480G>T	ENST00000281038.5	-	2	526	c.151C>A	c.(151-153)Cgt>Agt	p.R51S	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	51					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CGGACAGAACGAATCCATCCC	0.398																																																	0													91	83	85					11																	78282480		2200	4291	6491	SO:0001583	missense	0			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"Aminoacyl tRNA synthetases / Class II"	26274	protein-coding gene	gene with protein product	"asparagine tRNA ligase 2, mitochondrial (putative)"	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.151C>A	11.37:g.78282480G>T	ENSP00000281038:p.Arg51Ser		G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase	p.R51S	ENST00000281038.5	37	c.151	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	G	27.2	4.809184	0.90707	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.21543	2.0;2.0	5.24	5.24	0.73138	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67086	-0.5759	10	0.87932	D	0	-11.6167	17.9465	0.89040	0.0:0.0:1.0:0.0	.	51	Q96I59	SYNM_HUMAN	S	51	ENSP00000281038:R51S;ENSP00000432240:R51S	ENSP00000281038:R51S	R	-	1	0	NARS2	77960128	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.243000	0.65395	2.605000	0.88082	0.591000	0.81541	CGT	NARS2	-	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Asn-tRNA-ligase	ENSG00000137513		0.398	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2		0	46	0	G	NM_024678		78282480	-1			no_errors	ENST00000281038	ensembl	human	known	74_37	missense	5.17	54	3	SNP	1.000	T	T	78282480	G	T	78282480	3	4	76	1	0	0	0	0	1	0	0	0	10209	1058	37	2	1334	2	NARS2	11	78282480	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	3958505	78282480	56724036	126	19976											
CCDC89	220388	genome.wustl.edu	37	chr11	85396245	85396245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgctcaaaccgctccagcGcatgcttcctgtcttcattt	6	14	6	15	2	3	0	2	0	1	0	5	0	5	0	3	0	4	4	3	0	1	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:85396245G>A	ENST00000316398.3	-	1	1075	c.929C>T	c.(928-930)gCg>gTg	p.A310V	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	310						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCGCTCCAGCGCATGCTTCCT	0.512																																																	0													150	118	129					11																	85396245		2203	4299	6502	SO:0001583	missense	0			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.929C>T	11.37:g.85396245G>A	ENSP00000320649:p.Ala310Val			Missense_Mutation	SNP	NULL	p.A310V	ENST00000316398.3	37	c.929	CCDS8270.1	11	.	.	.	.	.	.	.	.	.	.	G	14.47	2.546463	0.45383	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.83179	0.5198	M	0.78049	2.395	0.50813	D	0.999893	D	0.89917	1.0	D	0.77004	0.989	T	0.81538	-0.0887	8	.	.	.	-8.9324	20.6208	0.99490	0.0:0.0:1.0:0.0	.	310	Q8N998	CCD89_HUMAN	V	310	.	.	A	-	2	0	CCDC89	85073893	0.998000	0.40836	0.082000	0.20525	0.119000	0.20118	4.015000	0.57152	2.882000	0.98803	0.655000	0.94253	GCG	CCDC89	-	NULL	ENSG00000179071		0.512	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC89	HGNC	protein_coding	OTTHUMT00000392182.1		0	27	0	G	NM_152723		85396245	-1			no_errors	ENST00000316398	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.883	A	A	85396245	G	A	85396245	3	1	76	1	0	0	0	0	1	0	0	0	2873	1087	38	1	199	1	CCDC89	11	85396245	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	7113765	85396245	49610271	127	19977											
MMP3	4314	genome.wustl.edu	37	chr11	102712941	102712941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgggcatctccattaatcCctggcccaggggcataggca	9	8	12	12	0	1	0	0	0	1	0	3	0	2	0	3	5	0	3	3	5	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:102712941C>A	ENST00000299855.5	-	4	825	c.569G>T	c.(568-570)gGg>gTg	p.G190V		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	190					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TCCATTAATCCCTGGCCCAGG	0.383																																																	0													121	115	117					11																	102712941		2203	4299	6502	SO:0001583	missense	0			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"matrix metalloproteinase 3 (stromelysin 1, progelatinase)"	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.569G>T	11.37:g.102712941C>A	ENSP00000299855:p.Gly190Val		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.G190V	ENST00000299855.5	37	c.569	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584463	0.65992	.	.	ENSG00000149968	ENST00000299855	T	0.18502	2.21	5.34	4.42	0.53409	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.417097	0.17670	N	0.166010	T	0.50990	0.1648	H	0.96943	3.91	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.59762	-0.7393	10	0.87932	D	0	.	7.5882	0.28006	0.0:0.7154:0.1545:0.13	.	190	P08254	MMP3_HUMAN	V	190	ENSP00000299855:G190V	ENSP00000299855:G190V	G	-	2	0	MMP3	102218151	0.326000	0.24669	0.582000	0.28627	0.820000	0.46376	1.259000	0.32956	2.937000	0.99478	0.650000	0.86243	GGG	MMP3	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000149968		0.383	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	-	0	94	0	C	NM_002422		102712941	-1	tier1	-	no_errors	ENST00000299855	ensembl	human	known	74_37	missense	36.28	72	41	SNP	0.790	A	A	102712941	C	A	102712941	3	1	76	1	0	0	0	0	1	0	0	0	9704	623	22	3	892	3	MMP3	11	102712941	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	17316696	102712941	32293575	128	19978											
ATM	472	genome.wustl.edu	37	chr11	108218089	108218089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacttgtacatatagatCtaggtaagtaataaaatcta	18	12	6	5	0	2	2	0	0	2	2	2	2	2	2	0	1	2	3	0	1	10	9	rs587779874		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:108218089C>G	ENST00000452508.2	+	60	8857	c.8668C>G	c.(8668-8670)Cta>Gta	p.L2890V	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2890V|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2890	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		L -> V (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106, ECO:0000269|PubMed:9488043}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L2890V(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACATATAGATCTAGGTAAGTA	0.313			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)											78	83	81					11																	108218089		2201	4297	6498	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8668C>G	11.37:g.108218089C>G	ENSP00000388058:p.Leu2890Val		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2890V	ENST00000452508.2	37	c.8668	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101439	0.37048	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.81821	-1.54;-1.54	5.52	0.459	0.16678	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.64402	D	0.000003	D	0.90403	0.6996	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89053	0.3457	10	0.72032	D	0.01	.	10.2885	0.43581	0.0:0.4202:0.0:0.5798	.	2890	Q13315	ATM_HUMAN	V	2890	ENSP00000278616:L2890V;ENSP00000388058:L2890V	ENSP00000278616:L2890V	L	+	1	2	ATM	107723299	0.985000	0.35326	0.962000	0.40283	0.305000	0.27757	0.232000	0.17891	-0.178000	0.10672	-1.327000	0.01280	CTA	ATM	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.313	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0	26	0	C	NM_000051		108218089	1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.996	G	G	108218089	C	G	108218089	3	3	76	1	0	0	0	0	1	0	0	0	1110	912	32	5	8898	5	ATM	11	108218089	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	5505148	108218089	26788427	129	19979											
APOA5	116519	genome.wustl.edu	37	chr11	116660917	116660917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccacaggtcatccagaCgggcctgcagcttgctcaga	8	8	10	15	1	2	2	2	0	0	2	4	2	4	2	3	2	3	3	3	2	0	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:116660917C>T	ENST00000227665.4	-	3	1062	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Missense_Mutation_p.R343H			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	343					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GTCATCCAGACGGGCCTGCAG	0.612																																																	0													104	89	94					11																	116660917		2201	4296	6497	SO:0001583	missense	0			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"Apolipoproteins"	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.1028G>A	11.37:g.116660917C>T	ENSP00000227665:p.Arg343His		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.R343H	ENST00000227665.4	37	c.1028	CCDS8376.2	11	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092993	0.76756	.	.	ENSG00000110243	ENST00000227665;ENST00000542499	T;T	0.72282	-0.64;-0.64	4.94	4.94	0.65067	Apolipoprotein/apolipophorin (1);	0.000000	0.42821	D	0.000652	T	0.82116	0.4967	M	0.72118	2.19	0.39493	D	0.96808	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.94	D	0.84486	0.0608	10	0.62326	D	0.03	-9.4187	15.0322	0.71717	0.0:1.0:0.0:0.0	.	340;343	B0YIW1;Q6Q788	.;APOA5_HUMAN	H	343	ENSP00000227665:R343H;ENSP00000445002:R343H	ENSP00000227665:R343H	R	-	2	0	APOA5	116166127	0.992000	0.36948	0.989000	0.46669	0.997000	0.91878	2.931000	0.48932	2.553000	0.86117	0.655000	0.94253	CGT	APOA5	-	NULL	ENSG00000110243		0.612	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	HGNC	protein_coding	OTTHUMT00000106285.2	-	0	52	0	C			116660917	-1	tier1	-	no_errors	ENST00000227665	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.992	T	T	116660917	C	T	116660917	3	4	76	1	0	0	0	0	1	0	0	0	784	536	19	1	76	1	APOA5	11	116660917	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	8442828	116660917	18345599	130	19980											
DSCAML1	57453	genome.wustl.edu	37	chr11	117352705	117352705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagacgacctcgtcgccGttgtccttggtggcgatggc	4	10	16	11	5	0	1	0	0	0	1	3	4	1	1	3	4	0	1	3	4	0	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:117352705G>A	ENST00000321322.6	-	12	2713	c.2712C>T	c.(2710-2712)aaC>aaT	p.N904N	DSCAML1_ENST00000527706.1_Silent_p.N634N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	844	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTCGTCGCCGTTGTCCTTGG	0.642																																																	0													149	103	119					11																	117352705		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2712C>T	11.37:g.117352705G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N904	ENST00000321322.6	37	c.2712	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.642	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	49	0	G	NM_020693		117352705	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	50.98	25	26	SNP	0.995	A	A	117352705	G	A	117352705	2	1	76	1	0	0	0	0	0	0	0	1	4783	1136	40	1		1	DSCAML1	11	117352705	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	691788	117352705	17653811	131	19981											
CRTAM	56253	genome.wustl.edu	37	chr11	122722490	122722490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccctgcaagatgaaggcGtgtacaagtgcttacattac	13	10	9	9	1	0	2	0	1	0	1	0	2	0	2	1	1	6	3	1	1	7	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:122722490G>A	ENST00000227348.4	+	3	330	c.283G>A	c.(283-285)Gtg>Atg	p.V95M		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGATGAAGGCGTGTACAAGTG	0.458																																																	0													158	135	143					11																	122722490		2202	4299	6501	SO:0001583	missense	0			AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	24313	protein-coding gene	gene with protein product	"class I MHC restricted T cell associated molecule"	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.283G>A	11.37:g.122722490G>A	ENSP00000227348:p.Val95Met			Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.V95M	ENST00000227348.4	37	c.283	CCDS8437.1	11	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150422	0.21371	.	.	ENSG00000109943	ENST00000227348	T	0.68331	-0.32	5.12	-0.122	0.13531	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.624736	0.15332	N	0.267923	T	0.52008	0.1708	M	0.75447	2.3	0.09310	N	0.999997	P	0.49307	0.922	B	0.33392	0.163	T	0.52487	-0.8569	10	0.54805	T	0.06	.	1.7089	0.02888	0.3767:0.1268:0.3664:0.13	.	95	O95727	CRTAM_HUMAN	M	95	ENSP00000227348:V95M	ENSP00000227348:V95M	V	+	1	0	CRTAM	122227700	0.000000	0.05858	0.073000	0.20177	0.620000	0.37586	-0.542000	0.06091	-0.297000	0.08934	0.460000	0.39030	GTG	CRTAM	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000109943		0.458	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAM	HGNC	protein_coding	OTTHUMT00000387507.1	-	0	95	0	G	NM_019604		122722490	1	tier1	-	no_errors	ENST00000227348	ensembl	human	known	74_37	missense	43.86	64	50	SNP	0.017	A	A	122722490	G	A	122722490	3	1	76	1	0	0	0	0	1	0	0	0	3904	1145	40	1	293	1	CRTAM	11	122722490	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	5369785	122722490	12284026	132	19982											
PRDM10	56980	genome.wustl.edu	37	chr11	129814909	129814909	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgcactcctcacacccTgcaaaagagagacagtcttg	12	10	7	12	0	2	2	1	0	1	2	3	3	3	2	2	0	2	2	2	0	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr11:129814909T>C	ENST00000360871.3	-	6	752		c.e6-2		PRDM10_ENST00000358825.5_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site|PRDM10_ENST00000526082.1_Splice_Site|PRDM10_ENST00000423662.2_Splice_Site|PRDM10_ENST00000304538.6_Splice_Site	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCTCACACCCTGCAAAAGAGA	0.537																																																	0													41	41	41					11																	129814909		2201	4297	6498	SO:0001630	splice_region_variant	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.521-2A>G	11.37:g.129814909T>C			B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Splice_Site	SNP	-	e5-2	ENST00000360871.3	37	c.521-2	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098313	0.76870	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9079	0.79445	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRDM10	129320119	1.000000	0.71417	0.992000	0.48379	0.894000	0.52154	7.655000	0.83696	2.213000	0.71641	0.528000	0.53228	.	PRDM10	-	-	ENSG00000170325		0.537	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0	78	0	T	NM_199437	Intron	129814909	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	splice_site	6.45	58	4	SNP	1.000	C	C	129814909	T	C	129814909	5	2	76	1	0	0	0	0	0	0	1	0	12493	1594	55	4	3031	4	PRDM10	11	129814909	Splice_Site	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	7092419	129814909	5191607	133	19983											
KCNA5	3741	genome.wustl.edu	37	chr12	5155089	5155089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaacgtcaaggccaagagCaacgtggacttgcggaggtc	11	7	14	9	3	1	1	1	0	0	1	2	3	1	3	1	4	4	2	1	4	4	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:5155089C>T	ENST00000252321.3	+	1	2005	c.1776C>T	c.(1774-1776)agC>agT	p.S592S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	592					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	AGGCCAAGAGCAACGTGGACT	0.587																																																	0													42	42	42					12																	5155089		2203	4300	6503	SO:0001819	synonymous_variant	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1776C>T	12.37:g.5155089C>T			Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S592	ENST00000252321.3	37	c.1776	CCDS8536.1	12																																																																																			KCNA5	-	prints_K_chnl_volt-dep_Kv1.5	ENSG00000130037		0.587	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2		0	48	0	C	NM_002234		5155089	1			no_errors	ENST00000252321	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	T	T	5155089	C	T	5155089	2	4	76	1	0	0	0	0	0	0	0	1	8033	709	25	3		3	KCNA5	12	5155089	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09		5155089	128696806	134	19984											
CD163L1	283316	genome.wustl.edu	37	chr12	7527487	7527487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgggtcagatacatttgCgaggcatggaaacagtggct	12	10	13	6	1	1	1	1	0	0	1	1	3	1	2	0	4	3	2	0	4	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:7527487C>T	ENST00000313599.3	-	12	3091	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1022T|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1012T			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1012						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GATACATTTGCGAGGCATGGA	0.463											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	74	76					12																	7527487		2203	4300	6503	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3034G>A	12.37:g.7527487C>T	ENSP00000315945:p.Ala1012Thr	642	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.A1012T	ENST00000313599.3	37	c.3034	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	C	8.329	0.826051	0.16749	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.01422	4.95;4.93;4.91	3.4	-5.36	0.02689	.	2.401570	0.02486	U	0.089018	T	0.00754	0.0025	N	0.22421	0.69	0.09310	N	1	P;P	0.47484	0.896;0.881	B;B	0.30316	0.114;0.099	T	0.51919	-0.8644	10	0.23302	T	0.38	.	0.8342	0.01137	0.4525:0.1895:0.1399:0.2181	.	1022;1012	E7EVK4;Q9NR16	.;C163B_HUMAN	T	1012;1022;1012	ENSP00000315945:A1012T;ENSP00000393474:A1022T;ENSP00000379871:A1012T	ENSP00000315945:A1012T	A	-	1	0	CD163L1	7418754	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.779000	0.01777	-1.030000	0.03312	0.456000	0.33151	GCA	CD163L1	-	NULL	ENSG00000177675		0.463	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	-	0	74	0	C	NM_174941		7527487	-1	tier1	-	no_errors	ENST00000313599	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	7527487	C	T	7527487	3	4	76	1	0	0	0	0	1	0	0	0	2975	768	27	1	1359	1	CD163L1	12	7527487	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	2372398	7527487	126324408	135	19985											
ITPR2	3709	genome.wustl.edu	37	chr12	26877672	26877672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgttccagttctgcagCgtgctataagatgattatca	9	17	8	7	1	2	2	1	1	1	1	3	2	3	2	1	0	3	4	1	0	3	7			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:26877672C>T	ENST00000381340.3	-	4	699	c.283G>A	c.(283-285)Gct>Act	p.A95T	ITPR2_ENST00000242737.5_Missense_Mutation_p.A95T	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	95					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTTCTGCAGCGTGCTATAAG	0.299																																																	0													136	114	121					12																	26877672		1808	4076	5884	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"Ion channels / Inositol triphosphate receptors"	6181	protein-coding gene	gene with protein product	"cilia and flagella associated protein 48"	600144	"inositol 1,4,5-triphosphate receptor, type 2"			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.283G>A	12.37:g.26877672C>T	ENSP00000370744:p.Ala95Thr		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.A95T	ENST00000381340.3	37	c.283	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314208	0.81358	.	.	ENSG00000123104	ENST00000381340;ENST00000242737	D;D	0.98602	-5.02;-5.02	4.96	4.96	0.65561	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.85682	D	0.000000	D	0.98061	0.9361	M	0.81239	2.535	0.80722	D	1	D;P	0.62365	0.991;0.93	P;B	0.48795	0.59;0.444	D	0.97808	1.0249	10	0.30854	T	0.27	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	95;95	Q14571-2;Q14571	.;ITPR2_HUMAN	T	95	ENSP00000370744:A95T;ENSP00000242737:A95T	ENSP00000242737:A95T	A	-	1	0	ITPR2	26768939	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.337000	0.79256	2.572000	0.86782	0.655000	0.94253	GCT	ITPR2	-	pfam_Ins145_P3_rcpt	ENSG00000123104		0.299	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	-	0	55	0	C	NM_002223		26877672	-1	tier1	-	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	26877672	C	T	26877672	3	4	76	1	0	0	0	0	1	0	0	0	7948	768	27	1	8038	1	ITPR2	12	26877672	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	19350185	26877672	106974223	136	19986											
C12orf35	55196	genome.wustl.edu	37	chr12	32134340	32134340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaacgtacccaatatgccgGcactacagagtcaactgata	14	8	7	12	2	1	2	1	1	0	1	1	2	1	2	2	1	5	2	2	1	7	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:32134340G>A	ENST00000312561.4	+	4	865	c.451G>A	c.(451-453)Gca>Aca	p.A151T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	151								p.A151T(1)									CAATATGCCGGCACTACAGAG	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											75	69	71					12																	32134340		2203	4300	6503	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.451G>A	12.37:g.32134340G>A	ENSP00000310338:p.Ala151Thr		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.A151T	ENST00000312561.4	37	c.451	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997265	0.35226	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.10192	2.9;2.9	5.35	-5.89	0.02282	.	1.582800	0.03582	N	0.230280	T	0.05960	0.0155	N	0.17082	0.46	0.09310	N	1	B	0.17038	0.02	B	0.17722	0.019	T	0.38478	-0.9659	9	.	.	.	.	6.5861	0.22622	0.4742:0.36:0.1659:0.0	.	151	Q9HCM1	CL035_HUMAN	T	151	ENSP00000310338:A151T;ENSP00000370442:A151T	.	A	+	1	0	C12orf35	32025607	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.450000	0.06803	-0.663000	0.05331	0.650000	0.86243	GCA	KIAA1551	-	NULL	ENSG00000174718		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2		0	55	0	G	NM_018169		32134340	1			no_errors	ENST00000312561	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.000	A	A	32134340	G	A	32134340	3	1	76	1	0	0	0	0	1	0	0	0	1687	1203	42	3	453	3	C12orf35	12	32134340	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	5256668	32134340	101717555	137	19987											
GDF11	10220	genome.wustl.edu	37	chr12	56142370	56142370	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccttctctcttatcagCggacccagcagtacagacag	9	9	9	14	1	3	1	1	0	2	1	4	2	3	2	2	1	4	2	2	1	2	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:56142370C>T	ENST00000257868.5	+	2	483	c.446C>T	c.(445-447)aCg>aTg	p.T149M		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	149					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)		p.T149M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTCTTATCAGCGGACCCAGCA	0.527																																																	1	Substitution - Missense(1)	endometrium(1)											141	147	145					12																	56142370		2203	4300	6503	SO:0001630	splice_region_variant	0			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.446-1C>T	12.37:g.56142370C>T			Q9UID1|Q9UID2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.T149M	ENST00000257868.5	37	c.446	CCDS8891.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.01|19.01	3.743542|3.743542	0.69418|0.69418	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000546799|ENST00000257868	.|T	.|0.66280	.|-0.2	4.86|4.86	4.86|4.86	0.63082|0.63082	.|Transforming growth factor-beta, N-terminal (1);	.|0.135895	.|0.48286	.|D	.|0.000185	T|T	0.54967|0.54967	0.1891|0.1891	N|N	0.14661|0.14661	0.345|0.345	0.46185|0.46185	D|D	0.998918|0.998918	.|P	.|0.51057	.|0.941	.|P	.|0.51324	.|0.666	T|T	0.54043|0.54043	-0.8352|-0.8352	5|9	.|.	.|.	.|.	.|.	15.8533|15.8533	0.78952|0.78952	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|149	.|O95390	.|GDF11_HUMAN	W|M	122|149	.|ENSP00000257868:T149M	.|.	R|T	+|+	1|2	2|0	GDF11|GDF11	54428637|54428637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	5.990000|5.990000	0.70595|0.70595	2.438000|2.438000	0.82558|0.82558	0.555000|0.555000	0.69702|0.69702	CGG|ACG	GDF11	-	pfam_TGF-b_N	ENSG00000135414		0.527	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF11	HGNC	protein_coding	OTTHUMT00000407842.3		0	55	0	C		Missense_Mutation	56142370	1			no_errors	ENST00000257868	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	56142370	C	T	56142370	5	4	76	1	0	0	0	0	0	0	1	0	6338	782	27	1	452	1	GDF11	12	56142370	Splice_Site	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	24008030	56142370	77709525	138	19988											
GLI1	2735	genome.wustl.edu	37	chr12	57860105	57860105	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggagctgaggccctTcaaagcccagtacatgctgg	9	7	12	13	0	1	1	1	1	0	0	2	2	2	2	3	3	4	3	3	3	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:57860105T>A	ENST00000228682.2	+	8	936	c.845T>A	c.(844-846)tTc>tAc	p.F282Y	GLI1_ENST00000546141.1_Missense_Mutation_p.F241Y|GLI1_ENST00000543426.1_Missense_Mutation_p.F154Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	282					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGAGGCCCTTCAAAGCCCAG	0.597																																					Pancreas(157;841 1936 10503 41495 50368)												0													100	94	96					12																	57860105		2203	4300	6503	SO:0001583	missense	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.845T>A	12.37:g.57860105T>A	ENSP00000228682:p.Phe282Tyr		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F282Y	ENST00000228682.2	37	c.845	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048841	0.93740	.	.	ENSG00000111087	ENST00000532291;ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T;T	0.72167	-0.63;1.27;1.27;1.27;1.27	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000103	D	0.88496	0.6452	H	0.97023	3.925	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91680	0.5357	10	0.87932	D	0	.	12.5642	0.56300	0.0:0.0:0.0:1.0	.	282	P08151	GLI1_HUMAN	Y	154;154;282;241;241;154	ENSP00000436671:F154Y;ENSP00000437607:F154Y;ENSP00000228682:F282Y;ENSP00000441006:F241Y;ENSP00000434408:F241Y	ENSP00000228682:F282Y	F	+	2	0	GLI1	56146372	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.792000	0.85828	1.862000	0.54008	0.533000	0.62120	TTC	GLI1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000111087		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	-	0	74	0	T	NM_005269		57860105	1	tier1	-	no_errors	ENST00000228682	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	57860105	T	A	57860105	3	1	76	1	0	0	0	0	1	0	0	0	6463	1783	62	5	871	5	GLI1	12	57860105	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	1717735	57860105	75991790	139	19989											
LGR5	8549	genome.wustl.edu	37	chr12	71978455	71978455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagttccgtgccatcaccaGcttatccagtgactgagagc	9	9	9	14	1	1	2	1	2	0	1	3	3	3	2	5	0	3	2	5	0	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:71978455G>A	ENST00000266674.5	+	18	2976	c.2665G>A	c.(2665-2667)Gct>Act	p.A889T	LGR5_ENST00000540815.2_Missense_Mutation_p.A865T|LGR5_ENST00000536515.1_Missense_Mutation_p.A817T|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	889					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GCCATCACCAGCTTATCCAGT	0.458																																																	0													136	129	131					12																	71978455		2203	4300	6503	SO:0001583	missense	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.2665G>A	12.37:g.71978455G>A	ENSP00000266674:p.Ala889Thr		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A889T	ENST00000266674.5	37	c.2665	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	G	9.714	1.157938	0.21454	.	.	ENSG00000139292	ENST00000266674;ENST00000536515;ENST00000540815	T;T;T	0.58358	0.4;0.34;0.48	5.82	2.72	0.32119	.	0.489229	0.20557	N	0.089998	T	0.27697	0.0681	N	0.08118	0	0.26344	N	0.977315	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.12528	-1.0544	10	0.46703	T	0.11	.	5.3716	0.16142	0.1756:0.0:0.4988:0.3256	.	865;889	O75473-2;O75473	.;LGR5_HUMAN	T	889;817;865	ENSP00000266674:A889T;ENSP00000443033:A817T;ENSP00000441035:A865T	ENSP00000266674:A889T	A	+	1	0	LGR5	70264722	0.681000	0.27614	0.113000	0.21522	0.321000	0.28281	1.081000	0.30791	0.786000	0.33708	0.585000	0.79938	GCT	LGR5	-	NULL	ENSG00000139292		0.458	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	-	0	62	0	G	NM_003667		71978455	1	tier1	-	no_errors	ENST00000266674	ensembl	human	known	74_37	missense	7.02	52	4	SNP	0.850	A	A	71978455	G	A	71978455	3	1	76	1	0	0	0	0	1	0	0	0	8786	971	34	3	2735	3	LGR5	12	71978455	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	14118350	71978455	61873440	140	19990											
DDX55	57696	genome.wustl.edu	37	chr12	124101146	124101146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatgaccctcccagcaatGcaaggtatggtacgaggctg	11	8	12	10	1	0	1	0	1	0	0	1	2	1	1	2	3	3	6	2	3	5	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:124101146G>T	ENST00000238146.4	+	10	1095	c.1045G>T	c.(1045-1047)Gca>Tca	p.A349S	DDX55_ENST00000421670.3_5'Flank|DDX55_ENST00000541259.1_3'UTR|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	349	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TCCCAGCAATGCAAGGTATGG	0.453																																																	0													155	152	153					12																	124101146		2203	4300	6503	SO:0001583	missense	0			AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"DEAD-boxes"	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1045G>T	12.37:g.124101146G>T	ENSP00000238146:p.Ala349Ser		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A349S	ENST00000238146.4	37	c.1045	CCDS9251.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.501038	0.97616	.	.	ENSG00000111364	ENST00000238146;ENST00000538449	T	0.74947	-0.89	5.63	5.63	0.86233	Helicase, C-terminal (3);	0.046880	0.85682	D	0.000000	T	0.71779	0.3380	L	0.37507	1.11	0.80722	D	1	B;P	0.38048	0.443;0.616	B;B	0.41135	0.304;0.348	T	0.72272	-0.4342	10	0.49607	T	0.09	-21.1449	19.6805	0.95960	0.0:0.0:1.0:0.0	.	349;349	B4DVE4;Q8NHQ9	.;DDX55_HUMAN	S	349	ENSP00000238146:A349S	ENSP00000238146:A349S	A	+	1	0	DDX55	122667099	1.000000	0.71417	0.193000	0.23327	0.931000	0.56810	9.382000	0.97209	2.670000	0.90874	0.655000	0.94253	GCA	DDX55	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000111364		0.453	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX55	HGNC	protein_coding	OTTHUMT00000400616.2	-	0	77	0	G			124101146	1	tier1	-	no_errors	ENST00000238146	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	124101146	G	T	124101146	3	4	76	1	0	0	0	0	1	0	0	0	4382	1319	46	3	1083	3	DDX55	12	124101146	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	52122691	124101146	9750749	141	19991											
EIF2B1	1967	genome.wustl.edu	37	chr12	124114969	124114969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagggaggcaagactgAtgaagcggaggaagagctcc	13	5	15	8	1	0	4	0	2	0	2	2	7	2	7	2	4	2	2	2	4	3	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:124114969A>G	ENST00000424014.2	-	3	435	c.227T>C	c.(226-228)aTc>aCc	p.I76T	EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000537073.1_Missense_Mutation_p.I76T|EIF2B1_ENST00000539951.1_Missense_Mutation_p.I63T	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	76					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		GGCAAGACTGATGAAGCGGAG	0.537																																																	0													84	66	72					12																	124114969		2203	4300	6503	SO:0001583	missense	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.227T>C	12.37:g.124114969A>G	ENSP00000416250:p.Ile76Thr		A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	pfam_IF-2B-related	p.I76T	ENST00000424014.2	37	c.227	CCDS31924.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.543995|4.543995	0.86022|0.86022	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073|ENST00000534960	D;D;D;D|.	0.92048|.	-2.96;-2.96;-2.96;-2.96|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74688|0.74688	0.3749|0.3749	M|M	0.75447|0.75447	2.3|2.3	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.999;0.998;0.638|.	D;D;D|.	0.91635|.	0.999;0.996;0.92|.	T|T	0.75780|0.75780	-0.3197|-0.3197	10|5	0.52906|.	T|.	0.07|.	-20.31|-20.31	15.1767|15.1767	0.72916|0.72916	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	76;63;76|.	B4DGX0;F5H0D0;Q14232|.	.;.;EI2BA_HUMAN|.	T|P	76;76;63;76|92	ENSP00000416250:I76T;ENSP00000228958:I76T;ENSP00000438060:I63T;ENSP00000444183:I76T|.	ENSP00000228958:I76T|.	I|S	-|-	2|1	0|0	EIF2B1|EIF2B1	122680922|122680922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	9.170000|9.170000	0.94795|0.94795	1.991000|1.991000	0.58162|0.58162	0.379000|0.379000	0.24179|0.24179	ATC|TCA	EIF2B1	-	pfam_IF-2B-related	ENSG00000111361		0.537	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1		0	54	0	A	NM_001414		124114969	-1			no_errors	ENST00000424014	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	G	G	124114969	A	G	124114969	3	3	76	1	0	0	0	0	1	0	0	0	5014	333	12	4	718	4	EIF2B1	12	124114969	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	13823	124114969	9736926	142	19992											
DNAH10	196385	genome.wustl.edu	37	chr12	124403417	124403417	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcactgaagaagtcgctGcctgattccatcctcatgaa	10	11	8	12	1	2	4	2	3	0	1	5	4	4	4	3	0	1	1	3	0	3	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr12:124403417G>T	ENST00000409039.3	+	64	11098	c.11073G>T	c.(11071-11073)ctG>ctT	p.L3691L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3691					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAAGTCGCTGCCTGATTCCA	0.527																																																	0													72	73	72					12																	124403417		2121	4254	6375	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11073G>T	12.37:g.124403417G>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.L3691	ENST00000409039.3	37	c.11073	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	37	0	G			124403417	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	124403417	G	T	124403417	2	4	76	1	0	0	0	0	0	0	0	1	4612	1306	46	3		3	DNAH10	12	124403417	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	288448	124403417	9448478	143	19993											
PAN3	255967	genome.wustl.edu	37	chr13	28855478	28855478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaatggaagactgtttagGctcctagcaaaattgggaac	15	9	10	7	0	0	1	0	0	0	1	1	3	1	3	1	3	2	3	1	3	8	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr13:28855478G>T	ENST00000380958.3	+	17	2498	c.2346G>T	c.(2344-2346)agG>agT	p.R782S	PAN3_ENST00000282391.5_Missense_Mutation_p.R470S|PAN3_ENST00000399613.1_Missense_Mutation_p.R582S	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GACTGTTTAGGCTCCTAGCAA	0.299																																																	0													69	79	75					13																	28855478		2202	4300	6502	SO:0001583	missense	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2346G>T	13.37:g.28855478G>T	ENSP00000370345:p.Arg782Ser			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.R782S	ENST00000380958.3	37	c.2346	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778590	0.70107	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.44881	0.91;0.91;0.91	5.76	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.70307	0.3209	H	0.94183	3.505	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.994;0.996	T	0.75991	-0.3122	10	0.87932	D	0	-12.7801	8.9157	0.35581	0.2807:0.0:0.7193:0.0	.	782;470;728	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	S	782;582;470	ENSP00000370345:R782S;ENSP00000382522:R582S;ENSP00000282391:R470S	ENSP00000282391:R470S	R	+	3	2	PAN3	27753478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.530000	0.45641	1.437000	0.47472	0.561000	0.74099	AGG	PAN3	-	NULL	ENSG00000152520		0.299	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	-	0	63	0	G	NM_175854		28855478	1	tier1	-	no_errors	ENST00000380958	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	28855478	G	T	28855478	3	4	76	1	0	0	0	0	1	0	0	0	11454	1194	42	3	2412	3	PAN3	13	28855478	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		28855478	86314400	144	19994											
EFNB2	1948	genome.wustl.edu	37	chr13	107164913	107164913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcttctgaaattctaGaccccagaggttagggctga	9	14	10	8	0	3	4	0	2	3	2	3	4	3	4	2	2	0	3	2	2	3	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr13:107164913G>T	ENST00000245323.4	-	2	519	c.370C>A	c.(370-372)Cta>Ata	p.L124I		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	124	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TGAAATTCTAGACCCCAGAGG	0.303																																																	0													94	92	93					13																	107164913		2203	4300	6503	SO:0001583	missense	0			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"Ephrins"	3227	protein-coding gene	gene with protein product	"HTK ligand", "ligand of eph-related kinase 5", "eph-related receptor tyrosine kinase ligand 5"	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.370C>A	13.37:g.107164913G>T	ENSP00000245323:p.Leu124Ile		Q5JV56	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L124I	ENST00000245323.4	37	c.370	CCDS9507.1	13	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543668	0.45280	.	.	ENSG00000125266	ENST00000245323	D	0.95205	-3.64	5.41	1.18	0.20946	Ephrin, conserved site (1);Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.95928	0.8674	M	0.69358	2.11	0.58432	D	0.999999	B	0.32203	0.36	P	0.57468	0.821	D	0.92305	0.5853	10	0.31617	T	0.26	.	10.3121	0.43714	0.3307:0.0:0.6693:0.0	.	124	P52799	EFNB2_HUMAN	I	124	ENSP00000245323:L124I	ENSP00000245323:L124I	L	-	1	2	EFNB2	105962914	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.814000	0.55643	0.367000	0.24454	0.655000	0.94253	CTA	EFNB2	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	ENSG00000125266		0.303	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB2	HGNC	protein_coding	OTTHUMT00000045733.4		0	78	0	G	NM_004093		107164913	-1			no_errors	ENST00000245323	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	107164913	G	T	107164913	3	4	76	1	0	0	0	0	1	0	0	0	4970	933	33	3	647	3	EFNB2	13	107164913	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	78309435	107164913	8004965	145	19995											
ING1	3621	genome.wustl.edu	37	chr13	111372209	111372209	+	Frame_Shift_Del	DEL	G	G	-																															gtggtactgtcccaagtgccGgggggagaacgagaagacca																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr13:111372209delG	ENST00000375774.3	+	2	1661	c.1199delG	c.(1198-1200)cggfs	p.R400fs	ING1_ENST00000375775.3_Frame_Shift_Del_p.R188fs|ING1_ENST00000338450.7_Frame_Shift_Del_p.R213fs|ING1_ENST00000333219.7_Frame_Shift_Del_p.R257fs	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	400					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCCAAGTGCCGGGGGGAGAAC	0.557																																																	0													43	40	41					13																	111372209		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"Zinc fingers, PHD-type"	6062	protein-coding gene	gene with protein product	"inhibitor of growth 1", "tumor suppressor ING1", "growth inhibitor ING1", "growth inhibitory protein ING1"	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1199delG	13.37:g.111372209delG	ENSP00000364929:p.Arg400fs		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E402fs	ENST00000375774.3	37	c.1199	CCDS9517.1	13																																																																																			ING1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger	ENSG00000153487		0.557	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2		0	35	0	G	NM_005537		111372209	1	tier1		no_errors	ENST00000375774	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	1.000	-	-	111372209	G	-	111372209	7	5	76	1	0	1	0	1	0	0	0	0	7762	1116	39	0	1353	0	ING1	13	111372209	Frame_Shift_Del	DEL	G	TCGA-L5-A88Z-01A-11D-A36J-09	4207296	111372209	3797669	146	19996											
ATP11A	23250	genome.wustl.edu	37	chr13	113485792	113485792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtgccccacgtcatctGcaacgggcaggtcctcccag	7	7	10	17	3	2	0	1	0	1	0	4	0	4	0	4	2	4	2	4	2	2	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr13:113485792G>T	ENST00000487903.1	+	13	1413	c.1325G>T	c.(1324-1326)tGc>tTc	p.C442F	ATP11A_ENST00000375645.3_Missense_Mutation_p.C442F|ATP11A_ENST00000283558.8_Missense_Mutation_p.C442F|ATP11A_ENST00000375630.2_Missense_Mutation_p.C442F			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	442					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CACGTCATCTGCAACGGGCAG	0.587																																																	0													160	112	128					13																	113485792		2203	4300	6503	SO:0001583	missense	0			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"ATPases / P-type"	13552	protein-coding gene	gene with protein product	"potential phospholipid-transporting ATPase IH", "phospholipid-translocating ATPase"	605868	"ATPase, Class VI, type 11A"			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1325G>T	13.37:g.113485792G>T	ENSP00000420387:p.Cys442Phe		Q5VXT2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.C442F	ENST00000487903.1	37	c.1325	CCDS32011.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.152242|3.152242	0.57259|0.57259	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|D;D;D;D	.|0.81821	.|-1.54;-1.54;-1.54;-1.54	5.45|5.45	5.45|5.45	0.79879|0.79879	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.043406	.|0.85682	.|D	.|0.000000	D|D	0.83764|0.83764	0.5325|0.5325	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	.|D;P;B	.|0.61697	.|0.99;0.467;0.001	.|P;B;B	.|0.59546	.|0.859;0.246;0.003	D|D	0.84838|0.84838	0.0806|0.0806	5|10	.|0.56958	.|D	.|0.05	.|.	19.2891|19.2891	0.94092|0.94092	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|442;442;442	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	S|F	417|442	.|ENSP00000420387:C442F;ENSP00000364781:C442F;ENSP00000364796:C442F;ENSP00000283558:C442F	.|ENSP00000283558:C442F	A|C	+|+	1|2	0|0	ATP11A|ATP11A	112533793|112533793	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.755000|0.755000	0.42902|0.42902	7.118000|7.118000	0.77137|0.77137	2.570000|2.570000	0.86706|0.86706	0.561000|0.561000	0.74099|0.74099	GCA|TGC	ATP11A	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000068650		0.587	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP11A	HGNC	protein_coding	OTTHUMT00000045834.3		0	88	0	G	NM_015205		113485792	1			no_errors	ENST00000375630	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	113485792	G	T	113485792	3	4	76	1	0	0	0	0	1	0	0	0	1120	1319	46	3	1375	3	ATP11A	13	113485792	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2113583	113485792	1684086	147	19997											
OR4L1	122742	genome.wustl.edu	37	chr14	20528746	20528747	+	Frame_Shift_Ins	INS	-	-	C																															acaacatattttgtgatcttINSccccttgtgatcaagcttgc																								rs35605617		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr14:20528746_20528747insC	ENST00000315683.1	+	1	543_544	c.543_544insC	c.(544-546)cccfs	p.P182fs		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTGTGATCTTCCCCTTGTGAT	0.401																																																	0																																										SO:0001589	frameshift_variant	0				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"GPCR / Class A : Olfactory receptors"	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.547dupC	14.37:g.20528750_20528750dupC	ENSP00000319217:p.Pro182fs		Q6IEZ5	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L182fs	ENST00000315683.1	37	c.543_544	CCDS32029.1	14																																																																																			OR4L1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176246		0.401	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1		0	44	0	-			20528747	1	tier1		no_errors	ENST00000315683	ensembl	human	known	74_37	frame_shift_ins	32.00	34	16	INS	0.994:0.995	C	C	20528747	-	C	20528746	7	5	76	1	0	1	1	0	0	0	0	0	11113	1770	62	0	545	0	OR4L1	14	20528746	Frame_Shift_Ins	INS	-	TCGA-L5-A88Z-01A-11D-A36J-09		20528746	86820794	148	19998											
DCAF11	80344	genome.wustl.edu	37	chr14	24587630	24587630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctatgactgccgatatgGccgtttccgtaaattcaaga	11	12	8	10	3	2	2	1	1	1	1	3	3	3	2	3	1	1	2	3	1	5	5	rs371332713		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr14:24587630G>A	ENST00000446197.3	+	7	1338	c.611G>A	c.(610-612)gGc>gAc	p.G204D	RP11-468E2.6_ENST00000558325.1_5'Flank|DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396936.1_Missense_Mutation_p.G104D|DCAF11_ENST00000396941.4_Missense_Mutation_p.G178D|DCAF11_ENST00000559115.1_Missense_Mutation_p.G204D	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	204					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGCCGATATGGCCGTTTCCGT	0.483																																																	0								G	ASP/GLY,ASP/GLY,ASP/GLY	0,4406		0,0,2203	139	131	134		611,611,533	5.4	1	14		134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DCAF11	NM_001163484.1,NM_025230.4,NM_181357.2	94,94,94	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	204/547,204/547,178/521	24587630	1,13005	2203	4300	6503	SO:0001583	missense	0			AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20258	protein-coding gene	gene with protein product		613317	"WD repeat domain 23"	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.611G>A	14.37:g.24587630G>A	ENSP00000415556:p.Gly204Asp		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G204D	ENST00000446197.3	37	c.611	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	g	18.51	3.639608	0.67244	0.0	1.16E-4	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T;T	0.77620	-1.11;0.82;0.82	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	L	0.49640	1.575	0.80722	D	1	D;D;P;P;D	0.89917	0.999;1.0;0.658;0.719;0.999	D;D;B;B;D	0.80764	0.969;0.994;0.286;0.397;0.968	D	0.85590	0.1245	10	0.66056	D	0.02	-22.3621	16.7199	0.85407	0.0:0.0:1.0:0.0	.	127;178;104;204;204	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	D	204;178;104;178	ENSP00000415556:G178D;ENSP00000380142:G104D;ENSP00000380146:G178D	ENSP00000323680:G204D	G	+	2	0	DCAF11	23657470	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.016000	0.88706	2.805000	0.96524	0.655000	0.94253	GGC	DCAF11	-	superfamily_WD40_repeat_dom,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom	ENSG00000100897		0.483	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4		0	87	0	G			24587630	1			no_errors	ENST00000446197	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	A	A	24587630	G	A	24587630	3	1	76	1	0	0	0	0	1	0	0	0	4271	1203	42	3	633	3	DCAF11	14	24587630	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	4058884	24587630	82761910	149	19999											
MIA2	117153	genome.wustl.edu	37	chr14	39716400	39716400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgaaagtatggaacaggatCgtattccagaagtgcatgtc	13	11	11	6	1	0	2	0	1	0	1	3	4	1	4	1	2	2	3	1	2	5	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr14:39716400C>G	ENST00000280082.3	+	4	821	c.622C>G	c.(622-624)Cgt>Ggt	p.R208G	MIA2_ENST00000556784.1_Missense_Mutation_p.R207G|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.R208G	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	208					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)		p.R208C(2)		NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GGAACAGGATCGTATTCCAGA	0.443																																																	2	Substitution - Missense(2)	NS(1)|prostate(1)											92	92	92					14																	39716400		2203	4300	6503	SO:0001583	missense	0			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.622C>G	14.37:g.39716400C>G	ENSP00000280082:p.Arg208Gly		A1L4H0|Q9H6C1	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.R207G	ENST00000280082.3	37	c.619	CCDS9672.1	14	.	.	.	.	.	.	.	.	.	.	C	0.981	-0.697050	0.03279	.	.	ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000280082;ENST00000556784;ENST00000553728	T;T;T	0.44083	0.93;0.94;3.27	5.11	2.03	0.26663	.	0.764956	0.11164	N	0.592774	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.14023	0.005;0.01	T	0.25467	-1.0131	9	.	.	.	-9.1323	7.3159	0.26501	0.0:0.7011:0.1368:0.1621	.	208;208	Q96PC5;Q96PC5-2	MIA2_HUMAN;.	G	208;207;208	ENSP00000280082:R208G;ENSP00000451934:R207G;ENSP00000452252:R208G	.	R	+	1	0	MIA2;RP11-407N17.3	38786151	0.003000	0.15002	0.010000	0.14722	0.142000	0.21351	1.429000	0.34903	0.668000	0.31126	0.655000	0.94253	CGT	MIA2	-	NULL	ENSG00000150526		0.443	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MIA2	HGNC	protein_coding	OTTHUMT00000276768.3	-	0	83	0	C	NM_054024		39716400	1	tier1	-	no_errors	ENST00000556784	ensembl	human	putative	74_37	missense	31.46	61	28	SNP	0.022	G	G	39716400	C	G	39716400	3	3	76	1	0	0	0	0	1	0	0	0	9602	884	31	5	636	5	MIA2	14	39716400	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	15128770	39716400	67633140	150	20000											
NUMB	8650	genome.wustl.edu	37	chr14	73750981	73750981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggattgttcatctccaGagaggtcgtggcatcagaag	11	10	13	7	1	3	3	2	1	1	2	5	5	3	4	1	3	0	2	1	3	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr14:73750981G>T	ENST00000355058.3	-	10	1035	c.757C>A	c.(757-759)Ctg>Atg	p.L253M	NUMB_ENST00000555238.1_Missense_Mutation_p.L253M|NUMB_ENST00000359560.3_Missense_Mutation_p.L242M|NUMB_ENST00000356296.4_Missense_Mutation_p.L253M|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000535282.1_Missense_Mutation_p.L242M|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000557597.1_Missense_Mutation_p.L242M|NUMB_ENST00000556772.1_Missense_Mutation_p.L109M|NUMB_ENST00000555394.1_Missense_Mutation_p.L253M|NUMB_ENST00000554546.1_Missense_Mutation_p.L242M|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000544991.3_Intron			P49757	NUMB_HUMAN	numb homolog (Drosophila)	253					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TTCATCTCCAGAGAGGTCGTG	0.532																																																	0													175	167	170					14																	73750981		2203	4300	6503	SO:0001583	missense	0			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"numb (Drosophila) homolog", "chromosome 14 open reading frame 41"	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.757C>A	14.37:g.73750981G>T	ENSP00000347169:p.Leu253Met		B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.L253M	ENST00000355058.3	37	c.757	CCDS32116.1	14	.	.	.	.	.	.	.	.	.	.	G	8.332	0.826767	0.16749	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394	T;T;T;T;T;T;T;T;T;T;T	0.64803	0.48;0.47;0.86;0.85;1.44;0.85;0.86;0.47;0.86;-0.12;-0.12	5.39	3.55	0.40652	.	0.635366	0.15907	N	0.238804	T	0.47637	0.1456	N	0.22421	0.69	0.29453	N	0.858311	B;B;B;B;B;B	0.29085	0.232;0.002;0.098;0.098;0.004;0.002	B;B;B;B;B;B	0.32465	0.146;0.005;0.046;0.031;0.011;0.005	T	0.47736	-0.9094	10	0.48119	T	0.1	-3.0849	8.4933	0.33112	0.1365:0.188:0.6755:0.0	.	239;242;242;253;242;253	Q86SW5;B2RCI6;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;NUMB_HUMAN	M	242;253;242;253;109;253;242;253;242;217;217;253;253	ENSP00000452416:L242M;ENSP00000348644:L253M;ENSP00000451117:L242M;ENSP00000451300:L253M;ENSP00000451513:L109M;ENSP00000347169:L253M;ENSP00000352563:L242M;ENSP00000451625:L253M;ENSP00000441258:L242M;ENSP00000452357:L253M;ENSP00000451374:L253M	ENSP00000315193:L217M	L	-	1	2	NUMB	72820734	0.995000	0.38212	0.994000	0.49952	0.326000	0.28443	1.998000	0.40796	0.826000	0.34661	0.655000	0.94253	CTG	NUMB	-	pirsf_Numb/numb-like	ENSG00000133961		0.532	NUMB-201	KNOWN	basic|CCDS	protein_coding	NUMB	HGNC	protein_coding	OTTHUMT00000414416.1		0	74	0	G			73750981	-1			no_errors	ENST00000355058	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.994	T	T	73750981	G	T	73750981	3	4	76	1	0	0	0	0	1	0	0	0	10790	933	33	3	1214	3	NUMB	14	73750981	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	34034581	73750981	33598559	151	20001											
CCDC88C	440193	genome.wustl.edu	37	chr14	91744555	91744555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catggagctgctcggaggagCctgggtgtcagggcaggaga	8	6	19	8	1	1	1	1	0	0	1	2	5	1	4	1	6	3	3	1	6	0	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr14:91744555C>T	ENST00000389857.6	-	29	4855	c.4769G>A	c.(4768-4770)gGc>gAc	p.G1590D	CCDC88C_ENST00000331194.7_Splice_Site_p.G114D	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1590					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCGGAGGAGCCTGGGTGTCA	0.617																																																	0													16	19	18					14																	91744555		2021	4184	6205	SO:0001630	splice_region_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.4769-1G>A	14.37:g.91744555C>T			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.G1590D	ENST00000389857.6	37	c.4769	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624777	0.66901	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.52983	2.37;0.64	5.43	5.43	0.79202	.	0.136994	0.32578	U	0.005912	T	0.69024	0.3065	M	0.72894	2.215	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72050	-0.4407	10	0.87932	D	0	.	17.4233	0.87520	0.0:1.0:0.0:0.0	.	1590;114;40	Q9P219;Q9P219-2;Q9P219-3	DAPLE_HUMAN;.;.	D	1590;114;114	ENSP00000374507:G1590D;ENSP00000330332:G114D	ENSP00000330332:G114D	G	-	2	0	CCDC88C	90814308	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	2.793000	0.47845	2.546000	0.85860	0.455000	0.32223	GGC	CCDC88C	-	NULL	ENSG00000015133		0.617	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0	63	0	C	XM_029353	Missense_Mutation	91744555	-1			no_errors	ENST00000389857	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	91744555	C	T	91744555	5	4	76	1	0	0	0	0	0	0	1	0	2872	753	26	3	1325	3	CCDC88C	14	91744555	Splice_Site	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	17993574	91744555	15604985	152	20002											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102471558	102471558	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcccccactccgaaggcgGaagctagaacacttggttag	11	6	11	13	2	0	1	0	0	0	1	1	3	1	2	3	3	3	2	3	3	5	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr14:102471558G>T	ENST00000360184.4	+	26	5582	c.5418G>T	c.(5416-5418)cgG>cgT	p.R1806R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1806	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCGAAGGCGGAAGCTAGAAC	0.507																																																	0													99	74	82					14																	102471558		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5418G>T	14.37:g.102471558G>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R1806	ENST00000360184.4	37	c.5418	CCDS9966.1	14																																																																																			DYNC1H1	-	NULL	ENSG00000197102		0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	53	0	G	NM_001376		102471558	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	102471558	G	T	102471558	2	4	76	1	0	0	0	0	0	0	0	1	4855	1161	41	3		3	DYNC1H1	14	102471558	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	10727003	102471558	4877982	153	20003											
NIPA1	123606	genome.wustl.edu	37	chr15	23049305	23049306	+	Frame_Shift_Ins	INS	-	-	C																															cagaagatgagcagcagcagINScatgagcagcacgatgcaca																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr15:23049305_23049306insC	ENST00000337435.4	-	5	537_538	c.513_514insG	c.(511-516)atgctgfs	p.L172fs	NIPA1_ENST00000538684.1_Frame_Shift_Ins_p.L2fs|NIPA1_ENST00000437912.2_Frame_Shift_Ins_p.L97fs|NIPA1_ENST00000561183.1_Frame_Shift_Ins_p.L97fs	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	172					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		AGCAGCAGCAGCATGAGCAGCA	0.604																																																	0																																										SO:0001589	frameshift_variant	0			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"spastic paraplegia 6 (autosomal dominant)"	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.514dupG	15.37:g.23049306_23049306dupC	ENSP00000337452:p.Leu172fs		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Frame_Shift_Ins	INS	pfam_Mg_trans_NIPA	p.L171fs	ENST00000337435.4	37	c.514_513	CCDS10011.1	15																																																																																			NIPA1	-	pfam_Mg_trans_NIPA	ENSG00000170113		0.604	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA1	HGNC	protein_coding	OTTHUMT00000251135.2		0	46	0	-	NM_144599		23049306	-1	tier1		no_errors	ENST00000337435	ensembl	human	known	74_37	frame_shift_ins	46.15	21	18	INS	1.000:1.000	C	C	23049306	-	C	23049305	7	5	76	1	0	1	1	0	0	0	0	0	10461	962	34	0	479	0	NIPA1	15	23049305	Frame_Shift_Ins	INS	-	TCGA-L5-A88Z-01A-11D-A36J-09		23049305	79482087	154	20004											
AQR	9716	genome.wustl.edu	37	chr15	35222464	35222464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtattttaattacctgtaGagaagtaattctatcatagt	14	17	6	4	0	2	1	1	0	1	1	2	2	2	1	1	0	1	3	1	0	8	9			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr15:35222464G>A	ENST00000156471.5	-	12	1234	c.1009C>T	c.(1009-1011)Cta>Tta	p.L337L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	337					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATTACCTGTAGAGAAGTAATT	0.313																																																	0													124	119	121					15																	35222464		1807	4072	5879	SO:0001819	synonymous_variant	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1009C>T	15.37:g.35222464G>A			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	superfamily_P-loop_NTPase	p.L337	ENST00000156471.5	37	c.1009	CCDS42013.1	15																																																																																			AQR	-	NULL	ENSG00000021776		0.313	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	-	0	48	0	G	NM_014691		35222464	-1	tier1	-	no_errors	ENST00000156471	ensembl	human	known	74_37	silent	38.98	36	23	SNP	0.993	A	A	35222464	G	A	35222464	2	1	76	1	0	0	0	0	0	0	0	1	835	933	33	3		3	AQR	15	35222464	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	12173159	35222464	67308928	155	20005											
SLC24A5	283652	genome.wustl.edu	37	chr15	48426713	48426713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctccttggcatctgtgctgCctgtggtttgctatctaata	5	17	9	10	0	3	0	0	0	3	0	4	0	3	0	2	2	3	4	2	2	3	5	rs538198029		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr15:48426713C>T	ENST00000341459.3	+	4	540	c.467C>T	c.(466-468)gCc>gTc	p.A156V	SLC24A5_ENST00000449382.2_Missense_Mutation_p.A96V	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	156					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		ATCTGTGCTGCCTGTGGTTTG	0.378																																																	0													182	156	165					15																	48426713		2198	4296	6494	SO:0001583	missense	0			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"Solute carriers"	20611	protein-coding gene	gene with protein product	"oculocutaneous albinism 6 (autosomal recessive)"	609802	"solute carrier family 24, member 5"			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.467C>T	15.37:g.48426713C>T	ENSP00000341550:p.Ala156Val		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.A156V	ENST00000341459.3	37	c.467	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129681	0.37630	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.60548	0.18;0.18	4.92	4.92	0.64577	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	N	0.11427	0.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.47114	-0.9142	10	0.02654	T	1	.	18.668	0.91499	0.0:1.0:0.0:0.0	.	96;156	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	V	156;96	ENSP00000341550:A156V;ENSP00000389966:A96V	ENSP00000341550:A156V	A	+	2	0	SLC24A5	46214005	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.424000	0.59868	2.702000	0.92279	0.655000	0.94253	GCC	SLC24A5	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	ENSG00000188467		0.378	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	-	0	49	0	C	NM_205850		48426713	1	tier1	-	no_errors	ENST00000341459	ensembl	human	known	74_37	missense	54.35	21	25	SNP	1.000	T	T	48426713	C	T	48426713	3	4	76	1	0	0	0	0	1	0	0	0	14514	739	26	3	481	3	SLC24A5	15	48426713	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	13204249	48426713	54104679	156	20006											
ZNF280D	54816	genome.wustl.edu	37	chr15	56959058	56959058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacttgtattagattttgCaggatttttagcagttatat	10	21	7	3	0	0	1	0	0	0	1	0	2	0	2	0	1	3	4	0	1	6	12			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr15:56959058C>T	ENST00000267807.7	-	15	1888	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T	ZNF280D_ENST00000559000.1_Missense_Mutation_p.A545T|ZNF280D_ENST00000396245.1_Missense_Mutation_p.A262T|ZNF280D_ENST00000559237.1_Missense_Mutation_p.A545T	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	558					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTAGATTTTGCAGGATTTTTA	0.363																																																	0													115	120	119					15																	56959058		2191	4292	6483	SO:0001583	missense	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"suppressor of hairy wing homolog 4 (Drosophila)"	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1672G>A	15.37:g.56959058C>T	ENSP00000267807:p.Ala558Thr		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A558T	ENST00000267807.7	37	c.1672	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.356286	0.00217	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.02916	4.11;4.52	5.1	0.104	0.14531	.	9.061880	0.01209	N	0.007794	T	0.01254	0.0041	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.41070	-0.9529	10	0.02654	T	1	0.0358	4.7348	0.12982	0.0:0.2404:0.2879:0.4717	.	621;558	B4DHL1;Q6N043	.;Z280D_HUMAN	T	558;545;262	ENSP00000267807:A558T;ENSP00000379545:A262T	ENSP00000267807:A558T	A	-	1	0	ZNF280D	54746350	0.958000	0.32768	0.005000	0.12908	0.188000	0.23474	0.018000	0.13422	-0.164000	0.10927	-1.322000	0.01289	GCA	ZNF280D	-	NULL	ENSG00000137871		0.363	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	-	0	68	0	C	XM_370867		56959058	-1	tier1	-	no_errors	ENST00000267807	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	56959058	C	T	56959058	3	4	76	1	0	0	0	0	1	0	0	0	17865	710	25	3	1299	3	ZNF280D	15	56959058	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	8532345	56959058	45572334	157	20007											
HERC1	8925	genome.wustl.edu	37	chr15	63922817	63922817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgcgagcacgcccctctgGcaagcctatcaggcgatctg	8	8	11	14	3	3	0	1	0	2	0	3	2	3	0	3	2	3	2	3	2	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr15:63922817G>A	ENST00000443617.2	-	69	12901	c.12814C>T	c.(12814-12816)Cca>Tca	p.P4272S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4272					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGCCCCTCTGGCAAGCCTATC	0.443																																																	0													86	86	86					15																	63922817		1927	4133	6060	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12814C>T	15.37:g.63922817G>A	ENSP00000390158:p.Pro4272Ser		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P4272S	ENST00000443617.2	37	c.12814	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843993	0.71488	.	.	ENSG00000103657	ENST00000443617	D	0.84660	-1.88	5.77	5.77	0.91146	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.90293	0.6964	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85140	0.0980	10	0.13470	T	0.59	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	4272	Q15751	HERC1_HUMAN	S	4272	ENSP00000390158:P4272S	ENSP00000390158:P4272S	P	-	1	0	HERC1	61709870	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.884000	0.98904	0.655000	0.94253	CCA	HERC1	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000103657		0.443	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	48	0	G	NM_003922		63922817	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	63922817	G	A	63922817	3	1	76	1	0	0	0	0	1	0	0	0	7084	1203	42	3	1811	3	HERC1	15	63922817	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	6963759	63922817	38608575	158	20008											
TMEM202	338949	genome.wustl.edu	37	chr15	72700132	72700132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggctgggggttggtccGgtgactacagtatcacctgc	7	10	14	10	1	2	1	2	1	0	0	3	1	3	1	2	5	2	3	2	5	3	3	rs140026568		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr15:72700132G>A	ENST00000341689.3	+	5	774	c.720G>A	c.(718-720)ccG>ccA	p.P240P	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	240						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGGTTGGTCCGGTGACTACAG	0.468													A|||	1	0.000199681	8e-04	0	5008	,	,		18184	0		0	False		,,,				2504	0																0								A		5,4393	825.1+/-416.5	0,5,2194	87	82	83		720	-1.3	0.6	15	dbSNP_134	83	2,8592	818.9+/-406.8	0,2,4295	no	coding-synonymous	TMEM202	NM_001080462.1		0,7,6489	AA,AG,GG		0.0233,0.1137,0.0539		240/274	72700132	7,12985	2199	4297	6496	SO:0001819	synonymous_variant	0				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.720G>A	15.37:g.72700132G>A				Silent	SNP	NULL	p.P240	ENST00000341689.3	37	c.720	CCDS32287.1	15																																																																																			TMEM202	-	NULL	ENSG00000187806		0.468	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM202	HGNC	protein_coding	OTTHUMT00000435756.1	-	0	114	0	G	NM_001080462		72700132	1	tier1	rs140026568	no_errors	ENST00000341689	ensembl	human	known	74_37	silent	44.70	73	59	SNP	0.301	A	A	72700132	G	A	72700132	2	1	76	1	0	0	0	0	0	0	0	1	16174	1103	39	1		1	TMEM202	15	72700132	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	8777315	72700132	29831260	159	20009											
PSTPIP1	9051	genome.wustl.edu	37	chr15	77310844	77310844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggtgcagatcgcaCggaaggcaggtggccagacg	10	4	18	9	3	0	2	0	0	0	2	1	4	0	4	1	6	2	4	1	6	1	0	rs375063664		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr15:77310844C>T	ENST00000558012.1	+	3	673	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.R62W|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.R62W|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.R61W	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	62	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)		p.R62W(2)		breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GCAGATCGCACGGAAGGCAGG	0.577																																																	2	Substitution - Missense(2)	endometrium(2)						C	TRP/ARG	0,3954		0,0,1977	32	39	37		184	2.9	1	15		37	1,8293		0,1,4146	no	missense	PSTPIP1	NM_003978.3	101	0,1,6123	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	62/417	77310844	1,12247	1977	4147	6124	SO:0001583	missense	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.184C>T	15.37:g.77310844C>T	ENSP00000452746:p.Arg62Trp		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.R127W	ENST00000558012.1	37	c.379	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094369	0.56075	0.0	1.21E-4	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.47528	0.84;2.43	3.81	2.88	0.33553	Fps/Fes/Fer/CIP4 homology (3);Prismane-like (1);	0.068606	0.64402	D	0.000012	T	0.64983	0.2648	M	0.73962	2.25	0.50171	D	0.999855	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.986;0.998;0.991;0.997	T	0.67373	-0.5687	10	0.87932	D	0	-19.9357	10.1872	0.43004	0.3598:0.6402:0.0:0.0	.	62;61;62;62	O43586-2;C9K004;B4E1Z9;O43586	.;.;.;PPIP1_HUMAN	W	62;61	ENSP00000368914:R62W;ENSP00000267939:R61W	ENSP00000267939:R61W	R	+	1	2	PSTPIP1	75097899	0.954000	0.32549	0.979000	0.43373	0.799000	0.45148	1.580000	0.36547	0.947000	0.37659	-0.230000	0.12252	CGG	PSTPIP1	-	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	ENSG00000140368		0.577	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	-	0	60	0	C	NM_003978		77310844	1	tier1	-	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.999	T	T	77310844	C	T	77310844	3	4	76	1	0	0	0	0	1	0	0	0	12763	527	19	1	194	1	PSTPIP1	15	77310844	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	4610712	77310844	25220548	160	20010											
USP7	7874	genome.wustl.edu	37	chr16	8998324	8998324	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagagatgggcttcctgccGctccttccgcttctgagcct	5	12	10	14	2	1	2	0	1	1	1	4	3	4	2	5	1	2	3	5	1	1	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:8998324G>T	ENST00000344836.4	-	15	1870	c.1672C>A	c.(1672-1674)Cgg>Agg	p.R558R	USP7_ENST00000381886.4_Silent_p.R542R|USP7_ENST00000535863.1_Silent_p.R459R	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	558					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTTCCTGCCGCTCCTTCCGC	0.557																																																	0													106	90	96					16																	8998324		2197	4300	6497	SO:0001819	synonymous_variant	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1672C>A	16.37:g.8998324G>T			A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.A486E	ENST00000344836.4	37	c.1457	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481312	0.44147	.	.	ENSG00000187555	ENST00000542333	T	0.07021	3.23	5.09	2.94	0.34122	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16748	-1.0392	6	0.02654	T	1	.	12.7525	0.57316	0.0:0.0:0.5853:0.4147	.	.	.	.	E	486	ENSP00000439272:A486E	ENSP00000439272:A486E	A	-	2	0	USP7	8905825	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.108000	0.41854	1.096000	0.41439	0.455000	0.32223	GCG	USP7	-	NULL	ENSG00000187555		0.557	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	-	0	54	0	G			8998324	-1	tier1	-	no_errors	ENST00000542333	ensembl	human	known	74_37	missense	9.30	38	4	SNP	1.000	T	T	8998324	G	T	8998324	2	4	76	1	0	0	0	0	0	0	0	1	17137	1086	38	2		2	USP7	16	8998324	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		8998324	81356429	161	20011											
NFATC2IP	84901	genome.wustl.edu	37	chr16	28970072	28970072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtgtggtggaccacatggCcacccaccttggggtgtccc	6	8	14	13	0	0	0	0	0	0	0	1	2	1	1	5	5	0	0	5	5	0	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:28970072C>T	ENST00000320805.4	+	6	956	c.881C>T	c.(880-882)gCc>gTc	p.A294V	NFATC2IP_ENST00000564978.1_Missense_Mutation_p.A15V|RP11-264B17.2_ENST00000569974.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA|NFATC2IP_ENST00000562977.1_3'UTR|NFATC2IP_ENST00000568148.1_Missense_Mutation_p.A2V|MIR4517_ENST00000578855.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	294					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GACCACATGGCCACCCACCTT	0.572																																																	0													87	85	86					16																	28970072		2197	4300	6497	SO:0001583	missense	0			AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.881C>T	16.37:g.28970072C>T	ENSP00000324792:p.Ala294Val		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.A294V	ENST00000320805.4	37	c.881	CCDS10645.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256197	0.80246	.	.	ENSG00000176953	ENST00000320805	T	0.23950	1.88	5.38	5.38	0.77491	Ubiquitin (1);	0.072447	0.53938	D	0.000050	T	0.46833	0.1413	M	0.61703	1.905	0.45415	D	0.998396	D;D	0.71674	0.988;0.998	P;D	0.66196	0.868;0.942	T	0.44050	-0.9353	10	0.87932	D	0	-20.5289	14.6509	0.68797	0.0:1.0:0.0:0.0	.	294;13	Q8NCF5;Q8NCF5-2	NF2IP_HUMAN;.	V	294	ENSP00000324792:A294V	ENSP00000324792:A294V	A	+	2	0	NFATC2IP	28877573	0.987000	0.35691	0.952000	0.39060	0.676000	0.39594	3.524000	0.53495	2.524000	0.85096	0.561000	0.74099	GCC	NFATC2IP	-	smart_Ubiquitin_dom	ENSG00000176953		0.572	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFATC2IP	HGNC	protein_coding	OTTHUMT00000214999.2		0	50	0	C	NM_032815		28970072	1			no_errors	ENST00000320805	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.981	T	T	28970072	C	T	28970072	3	4	76	1	0	0	0	0	1	0	0	0	10402	739	26	3	903	3	NFATC2IP	16	28970072	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	19971748	28970072	61384681	162	20012											
SHCBP1	79801	genome.wustl.edu	37	chr16	46617507	46617507	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacaccataaccttcattAttatgtattatattattcac	15	16	1	9	0	2	0	2	0	0	0	2	0	2	0	2	0	2	1	2	0	8	9			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:46617507A>G	ENST00000303383.3	-	12	1880	c.1614T>C	c.(1612-1614)aaT>aaC	p.N538N		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	538					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AACCTTCATTATTATGTATTA	0.318																																																	0													66	68	67					16																	46617507		2202	4294	6496	SO:0001819	synonymous_variant	0			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1614T>C	16.37:g.46617507A>G			Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	p.N538	ENST00000303383.3	37	c.1614	CCDS10720.1	16																																																																																			SHCBP1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000171241		0.318	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	HGNC	protein_coding	OTTHUMT00000255740.1	-	0	112	0	A	NM_024745		46617507	-1	tier1	-	no_errors	ENST00000303383	ensembl	human	known	74_37	silent	8.57	96	9	SNP	1.000	G	G	46617507	A	G	46617507	2	3	76	1	0	0	0	0	0	0	0	1	14319	446	16	4		4	SHCBP1	16	46617507	Silent	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	17647435	46617507	43737246	163	20013											
NLRC5	84166	genome.wustl.edu	37	chr16	57101728	57101729	+	Frame_Shift_Ins	INS	-	-	G																															ctgctgtccctctctgagctINSgaagacatttcggtatgtag																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:57101728_57101729insG	ENST00000262510.6	+	36	4712_4713	c.4487_4488insG	c.(4486-4491)ctgaagfs	p.K1497fs	NLRC5_ENST00000308149.7_Frame_Shift_Ins_p.K1468fs|NLRC5_ENST00000436936.1_Frame_Shift_Ins_p.K1497fs|NLRC5_ENST00000539144.1_Frame_Shift_Ins_p.K1468fs	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1497					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCTCTGAGCTGAAGACATTTC	0.545																																																	0																																										SO:0001589	frameshift_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4488dupG	16.37:g.57101729_57101729dupG	ENSP00000262510:p.Lys1497fs		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.K1497fs	ENST00000262510.6	37	c.4487_4488	CCDS10773.1	16																																																																																			NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000140853		0.545	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1		0	64	0	-	NM_032206		57101729	1	tier1		no_errors	ENST00000262510	ensembl	human	known	74_37	frame_shift_ins	36.00	32	18	INS	1.000:0.994	G	G	57101729	-	G	57101728	7	5	76	1	0	1	1	0	0	0	0	0	10509	1580	55	0	4621	0	NLRC5	16	57101728	Frame_Shift_Ins	INS	-	TCGA-L5-A88Z-01A-11D-A36J-09	10484221	57101728	33253025	164	20014											
NLRC5	84166	genome.wustl.edu	37	chr16	57113144	57113144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctgcagcttggcggaaaAcaacctggctggaggggtcc	9	6	14	12	1	0	0	0	0	0	0	1	2	1	2	3	6	4	3	3	6	3	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:57113144A>G	ENST00000262510.6	+	45	5402	c.5177A>G	c.(5176-5178)aAc>aGc	p.N1726S	NLRC5_ENST00000308149.7_Missense_Mutation_p.N1697S|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.N1697S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1726					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTGGCGGAAAACAACCTGGCT	0.627																																																	0													54	55	55					16																	57113144		2198	4300	6498	SO:0001583	missense	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5177A>G	16.37:g.57113144A>G	ENSP00000262510:p.Asn1726Ser		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.N1726S	ENST00000262510.6	37	c.5177	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463731	0.63513	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.66280	-0.2;-0.2;-0.2	5.47	5.47	0.80525	.	.	.	.	.	T	0.79488	0.4454	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.81769	-0.0781	9	0.52906	T	0.07	.	11.9323	0.52853	1.0:0.0:0.0:0.0	.	1726	Q86WI3	NLRC5_HUMAN	S	1726;1697;1697	ENSP00000262510:N1726S;ENSP00000308886:N1697S;ENSP00000441727:N1697S	ENSP00000262510:N1726S	N	+	2	0	NLRC5	55670645	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	4.148000	0.58085	2.066000	0.61787	0.482000	0.46254	AAC	NLRC5	-	NULL	ENSG00000140853		0.627	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	-	0	114	0	A	NM_032206		57113144	1	tier1	-	no_errors	ENST00000262510	ensembl	human	known	74_37	missense	33.98	68	35	SNP	1.000	G	G	57113144	A	G	57113144	3	3	76	1	0	0	0	0	1	0	0	0	10509	43	2	4	5347	4	NLRC5	16	57113144	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	11416	57113144	33241609	165	20015											
C16orf86	388284	genome.wustl.edu	37	chr16	67702161	67702161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactattgcaaccctgagctGaaccaggcagggaaggggga	13	5	14	9	0	0	2	0	2	0	0	0	4	0	4	2	4	5	3	2	4	5	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:67702161G>A	ENST00000403458.4	+	4	767	c.612G>A	c.(610-612)ctG>ctA	p.L204L	ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602644.1_5'Flank|ENKD1_ENST00000602409.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	204										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACCCTGAGCTGAACCAGGCAG	0.657											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	17	16					16																	67702161		2187	4291	6478	SO:0001819	synonymous_variant	0				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.612G>A	16.37:g.67702161G>A		1101	B5MCW6	Silent	SNP	NULL	p.L204	ENST00000403458.4	37	c.612	CCDS32468.2	16																																																																																			C16orf86	-	NULL	ENSG00000159761		0.657	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf86	HGNC	protein_coding	OTTHUMT00000318767.2	-	0	82	0	G	NM_001012984		67702161	1	tier1	-	no_errors	ENST00000403458	ensembl	human	known	74_37	silent	51.14	43	45	SNP	1.000	A	A	67702161	G	A	67702161	2	1	76	1	0	0	0	0	0	0	0	1	1844	1277	45	3		3	C16orf86	16	67702161	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	10589017	67702161	22652592	166	20016											
CENPT	80152	genome.wustl.edu	37	chr16	67863987	67863987	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgggctggtttcccAgggcctgagtgaaggggaga	10	7	17	7	0	0	4	0	2	0	2	1	5	1	4	2	5	1	2	2	5	2	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:67863987A>G	ENST00000562787.1	-	12	1415	c.867T>C	c.(865-867)ccT>ccC	p.P289P	CENPT_ENST00000440851.2_Silent_p.P289P|CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000219172.3_Silent_p.P289P|CENPT_ENST00000564817.1_Silent_p.P289P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	289	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTGGTTTCCCAGGGCCTGAGT	0.582																																																	0													41	42	42					16																	67863987		2024	4199	6223	SO:0001819	synonymous_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.867T>C	16.37:g.67863987A>G			Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	superfamily_Histone-fold	p.P289	ENST00000562787.1	37	c.867	CCDS42182.1	16																																																																																			CENPT	-	NULL	ENSG00000102901		0.582	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1		0	71	0	A	NM_025082		67863987	-1			no_errors	ENST00000219172	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.015	G	G	67863987	A	G	67863987	2	3	76	1	0	0	0	0	0	0	0	1	3249	175	7	4		4	CENPT	16	67863987	Silent	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	161826	67863987	22490766	167	20017											
CIRH1A	84916	genome.wustl.edu	37	chr16	69191113	69191113	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcaggaggaagcttcAagcacctgcatgctttccag	10	9	11	11	0	2	0	2	0	0	0	3	2	3	2	2	2	5	5	2	2	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:69191113A>G	ENST00000314423.7	+	12	1591	c.1414A>G	c.(1414-1416)Aag>Gag	p.K472E	CIRH1A_ENST00000563094.1_Missense_Mutation_p.K472E|CIRH1A_ENST00000352319.4_Intron			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	472					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGGAAGCTTCAAGCACCTGCA	0.448																																					Melanoma(69;1156 1278 4951 8715 52012)												0													58	53	55					16																	69191113		2198	4300	6498	SO:0001583	missense	0			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1414A>G	16.37:g.69191113A>G	ENSP00000327179:p.Lys472Glu		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.K472E	ENST00000314423.7	37	c.1414	CCDS10872.1	16	.	.	.	.	.	.	.	.	.	.	A	14.60	2.583473	0.46006	.	.	ENSG00000141076	ENST00000314423	T	0.29142	1.58	5.9	3.57	0.40892	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.191449	0.53938	D	0.000054	T	0.21227	0.0511	L	0.39397	1.21	0.38676	D	0.952429	B;B	0.26845	0.03;0.161	B;B	0.30495	0.033;0.116	T	0.06972	-1.0797	10	0.07813	T	0.8	.	7.6127	0.28139	0.7131:0.1468:0.0:0.1401	.	472;472	Q969X6;Q969X6-3	CIR1A_HUMAN;.	E	472	ENSP00000327179:K472E	ENSP00000327179:K472E	K	+	1	0	CIRH1A	67748614	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	5.318000	0.65829	0.440000	0.26502	0.374000	0.22700	AAG	CIRH1A	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat	ENSG00000141076		0.448	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2	-	0	43	0	A	NM_032830		69191113	1	tier1	-	no_errors	ENST00000314423	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G	G	69191113	A	G	69191113	3	3	76	1	0	0	0	0	1	0	0	0	3441	131	5	4	1456	4	CIRH1A	16	69191113	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	1327126	69191113	21163640	168	20018											
ADAT1	23536	genome.wustl.edu	37	chr16	75654167	75654167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacccgtgcttaccgtTcttcctcattttggactgtc	4	16	6	15	2	2	0	1	0	1	0	5	1	4	1	4	1	2	2	4	1	1	6			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:75654167T>C	ENST00000307921.3	-	4	380	c.235A>G	c.(235-237)Aac>Gac	p.N79D		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	79	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TGCTTACCGTTCTTCCTCATT	0.438																																																	0													290	230	250					16																	75654167		2198	4300	6498	SO:0001583	missense	0			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.235A>G	16.37:g.75654167T>C	ENSP00000310015:p.Asn79Asp		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.N79D	ENST00000307921.3	37	c.235	CCDS10922.1	16	.	.	.	.	.	.	.	.	.	.	T	3.147	-0.175012	0.06421	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93247	-3.19	5.45	4.35	0.52113	Adenosine deaminase/editase (3);	0.561776	0.21965	N	0.066532	D	0.82958	0.5150	N	0.10809	0.05	0.20873	N	0.999833	B	0.06786	0.001	B	0.11329	0.006	T	0.65907	-0.6054	10	0.08837	T	0.75	.	10.0206	0.42041	0.0:0.0804:0.0:0.9196	.	79	Q9BUB4	ADAT1_HUMAN	D	79;50	ENSP00000310015:N79D	ENSP00000310015:N79D	N	-	1	0	ADAT1	74211668	0.997000	0.39634	0.940000	0.37924	0.355000	0.29361	3.612000	0.54142	2.185000	0.69588	0.459000	0.35465	AAC	ADAT1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000065457		0.438	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAT1	HGNC	protein_coding	OTTHUMT00000269027.1		0	76	0	T	NM_012091		75654167	-1			no_errors	ENST00000307921	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.938	C	C	75654167	T	C	75654167	3	2	76	1	0	0	0	0	1	0	0	0	284	1783	62	4	1305	4	ADAT1	16	75654167	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	6463054	75654167	14700586	169	20019											
ACSF3	197322	genome.wustl.edu	37	chr16	89199546	89199546	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcatcctccacaggtGaccccagggtttgaagaaaa	11	10	9	11	0	2	3	1	2	1	1	4	3	4	3	4	2	0	2	4	2	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:89199546G>T	ENST00000317447.4	+	8	1619	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	ACSF3_ENST00000378345.4_Silent_p.V149V|ACSF3_ENST00000406948.3_Silent_p.V414V	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	414					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|malonate catabolic process (GO:0090410)	mitochondrion (GO:0005739)	acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)|malonyl-CoA synthetase activity (GO:0090409)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTCCACAGGTGACCCCAGGGT	0.552																																																	0													71	75	73					16																	89199546		2198	4300	6498	SO:0001819	synonymous_variant	0			AK075499	CCDS10974.1, CCDS73926.1	16q24.3	2013-01-15			ENSG00000176715	ENSG00000176715		"Acyl-CoA synthetase family"	27288	protein-coding gene	gene with protein product	"malonyl-CoA synthetase"	614245				17762044, 21846720	Standard	XM_005256293		Approved		uc010cig.2	Q4G176	OTTHUMG00000138044	ENST00000317447.4:c.1242G>T	16.37:g.89199546G>T			A8K4J8|C9JQL6|Q6INA0|Q8N2F7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D365Y	ENST00000317447.4	37	c.1093	CCDS10974.1	16																																																																																			ACSF3	-	NULL	ENSG00000176715		0.552	ACSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF3	HGNC	protein_coding	OTTHUMT00000269919.1		0	82	0	G	NM_174917		89199546	1			no_errors	ENST00000542688	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	89199546	G	T	89199546	2	4	76	1	0	0	0	0	0	0	0	1	176	1277	45	3		3	ACSF3	16	89199546	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	13545379	89199546	1155207	170	20020											
C16orf7	9605	genome.wustl.edu	37	chr16	89776294	89776294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggccttcgaaggccagaaGggtcagcgagagcagcctgt	10	6	15	10	2	1	2	1	0	0	2	2	4	1	2	3	3	3	1	3	3	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr16:89776294G>T	ENST00000389386.3	-	11	1403	c.1279C>A	c.(1279-1281)Ctt>Att	p.L427I	VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1_ENST00000561976.1_Missense_Mutation_p.L357I|VPS9D1_ENST00000565452.1_5'Flank	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	427					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										AAGGCCAGAAGGGTCAGCGAG	0.627																																																	0													83	100	94					16																	89776294		2115	4245	6360	SO:0001583	missense	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.1279C>A	16.37:g.89776294G>T	ENSP00000374037:p.Leu427Ile			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.L427I	ENST00000389386.3	37	c.1279	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505719	0.64410	.	.	ENSG00000075399	ENST00000389386	.	.	.	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.77631	0.4159	M	0.69823	2.125	0.51767	D	0.99993	D	0.76494	0.999	D	0.78314	0.991	T	0.73228	-0.4049	9	0.23891	T	0.37	-21.3946	18.0438	0.89326	0.0:0.0:1.0:0.0	.	427	Q9Y2B5	CP007_HUMAN	I	427	.	ENSP00000374037:L427I	L	-	1	0	C16orf7	88303795	0.998000	0.40836	0.759000	0.31340	0.949000	0.60115	2.772000	0.47678	2.606000	0.88127	0.655000	0.94253	CTT	VPS9D1	-	NULL	ENSG00000075399		0.627	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0	109	0	G	NM_004913		89776294	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	5.13	73	4	SNP	0.999	T	T	89776294	G	T	89776294	3	4	76	1	0	0	0	0	1	0	0	0	1833	1000	35	3	636	3	C16orf7	16	89776294	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	576748	89776294	578459	171	20021											
VPS53	55275	genome.wustl.edu	37	chr17	465823	465823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcagggcgatcatgggCtccccagtactgagctgaga	8	8	15	10	1	2	2	2	2	0	1	3	4	3	2	2	3	2	3	2	3	1	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:465823C>A	ENST00000571805.1	-	14	1612	c.1476G>T	c.(1474-1476)gaG>gaT	p.E492D	VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Missense_Mutation_p.E492D|VPS53_ENST00000446250.2_Missense_Mutation_p.E294D|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.E463D|VPS53_ENST00000401468.3_Missense_Mutation_p.E215D			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	492					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CGATCATGGGCTCCCCAGTAC	0.547																																																	0													85	78	80					17																	465823		2203	4300	6503	SO:0001583	missense	0				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"vacuolar protein sorting 53 (yeast)"			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1476G>T	17.37:g.465823C>A	ENSP00000459312:p.Glu492Asp		A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.E492D	ENST00000571805.1	37	c.1476		17	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781204	0.49891	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	6.07	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	L	0.50333	1.59	0.80722	D	1	P;P;P;B;B	0.51240	0.943;0.726;0.591;0.146;0.074	P;B;B;B;B	0.53988	0.739;0.108;0.219;0.065;0.039	T	0.07214	-1.0784	10	0.36615	T	0.2	-29.4875	10.8151	0.46571	0.0:0.7919:0.0:0.2081	.	215;492;294;492;463	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2	.;.;.;VPS53_HUMAN;.	D	492;294;463;215;444	ENSP00000401435:E492D;ENSP00000394386:E294D;ENSP00000291074:E463D;ENSP00000384294:E215D;ENSP00000373692:E444D	ENSP00000291074:E463D	E	-	3	2	VPS53	412573	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	0.959000	0.29240	0.906000	0.36621	0.655000	0.94253	GAG	VPS53	-	NULL	ENSG00000141252		0.547	VPS53-006	KNOWN	basic	protein_coding	VPS53	HGNC	protein_coding	OTTHUMT00000436940.2		0	68	0	C	NM_018289		465823	-1			no_errors	ENST00000437048	ensembl	human	known	74_37	missense	5.75	82	5	SNP	1.000	A	A	465823	C	A	465823	3	1	76	1	0	0	0	0	1	0	0	0	17264	796	28	3	1073	3	VPS53	17	465823	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09		465823	80729387	172	20022											
TP53	7157	genome.wustl.edu	37	chr17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcatggtgggggcagcGcctcacaacctccgtcatgt	6	8	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	2	2	3	3	1	0	rs138729528		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:7578407G>C	ENST00000269305.4	-	5	712	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000420246.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGGGGCAGCGCCTCACAACC	0.657		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	93	Substitution - Missense(54)|Deletion - Frameshift(19)|Deletion - In frame(8)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	large_intestine(25)|lung(19)|breast(11)|upper_aerodigestive_tract(8)|oesophagus(7)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|liver(4)|bone(4)|stomach(2)|salivary_gland(2)|urinary_tract(2)|cervix(1)	GRCh37	CM011013	TP53	M	rs138729528						50	50	50					17																	7578407		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.523C>G	17.37:g.7578407G>C	ENSP00000269305:p.Arg175Gly		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175G	ENST00000269305.4	37	c.523	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.570086	0.65765	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99891	-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56;-7.56	5.41	2.14	0.27477	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99862	0.9935	M	0.92784	3.345	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.999;0.997;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.987;1.0;0.999;0.992;0.975;1.0	D	0.98196	1.0465	10	0.87932	D	0	-11.8679	4.599	0.12343	0.171:0.0:0.5642:0.2648	.	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175G;ENSP00000352610:R175G;ENSP00000269305:R175G;ENSP00000398846:R175G;ENSP00000391127:R175G;ENSP00000391478:R175G;ENSP00000425104:R43G;ENSP00000423862:R82G	ENSP00000269305:R175G	R	-	1	0	TP53	7519132	1.000000	0.71417	0.786000	0.31890	0.745000	0.42441	4.630000	0.61297	0.778000	0.33520	-0.140000	0.14226	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.657	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	45	0	G	NM_000546		7578407	-1	tier1	rs138729528	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.997	C	C	7578407	G	C	7578407	3	2	76	1	0	0	0	0	1	0	0	0	16429	1087	38	5	775	5	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	7112584	7578407	73616803	173	20023											
TP53	7157	genome.wustl.edu	37	chr17	7579359	7579359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcaagaagcccagacGgaaaccgtagctgccctggt	13	5	12	11	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs587781371|rs587780066		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:7579359G>A	ENST00000269305.4	-	4	517	c.328C>T	c.(328-330)Cgt>Tgt	p.R110C	TP53_ENST00000445888.2_Missense_Mutation_p.R110C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R110C|TP53_ENST00000455263.2_Missense_Mutation_p.R110C|TP53_ENST00000420246.2_Missense_Mutation_p.R110C|TP53_ENST00000359597.4_Missense_Mutation_p.R110C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110fs*13(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAGCCCAGACGGAAACCGTAG	0.607		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	41	Deletion - Frameshift(17)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(3)|Insertion - Frameshift(2)|Complex - deletion inframe(2)|Insertion - In frame(1)	breast(11)|upper_aerodigestive_tract(4)|bone(4)|large_intestine(3)|lung(3)|NS(3)|prostate(3)|central_nervous_system(2)|liver(2)|skin(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|oesophagus(1)											62	59	60					17																	7579359		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.328C>T	17.37:g.7579359G>A	ENSP00000269305:p.Arg110Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R110C	ENST00000269305.4	37	c.328	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554385	0.27739	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	4.75	0.0479	0.14282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99330	0.9765	L	0.52759	1.655	0.24591	N	0.993824	D;B;B;D;B;B;D	0.89917	1.0;0.205;0.032;0.996;0.05;0.021;0.999	D;B;B;P;B;B;P	0.64877	0.93;0.086;0.024;0.766;0.061;0.041;0.861	D	0.98545	1.0634	10	0.87932	D	0	-0.2466	3.1911	0.06618	0.0868:0.1448:0.3246:0.4438	.	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	110	ENSP00000410739:R110C;ENSP00000352610:R110C;ENSP00000269305:R110C;ENSP00000398846:R110C;ENSP00000391127:R110C;ENSP00000391478:R110C;ENSP00000424104:R110C;ENSP00000426252:R110C	ENSP00000269305:R110C	R	-	1	0	TP53	7520084	0.045000	0.20229	0.111000	0.21465	0.951000	0.60555	0.025000	0.13577	-0.013000	0.14199	0.655000	0.94253	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	153	0	G	NM_000546		7579359	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	53.14	82	93	SNP	0.028	A	A	7579359	G	A	7579359	3	1	76	1	0	0	0	0	1	0	0	0	16429	1116	39	1	974	1	TP53	17	7579359	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	952	7579359	73615851	174	20024											
ALDOC	230	genome.wustl.edu	37	chr17	26902474	26902474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccagaatgcctttgcccGgggctacaatccgcagggca	9	6	12	14	2	0	1	0	0	0	1	1	1	1	1	4	3	4	3	4	3	3	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:26902474G>A	ENST00000226253.4	-	2	552	c.77C>T	c.(76-78)cCg>cTg	p.P26L	ALDOC_ENST00000395321.2_Missense_Mutation_p.P26L|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Missense_Mutation_p.P26L	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	26					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GCCTTTGCCCGGGGCTACAAT	0.572											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101	88	92					17																	26902474		2203	4300	6503	SO:0001583	missense	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.77C>T	17.37:g.26902474G>A	ENSP00000226253:p.Pro26Leu	790	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Missense_Mutation	SNP	pfam_Aldolase_I	p.P26L	ENST00000226253.4	37	c.77	CCDS11236.1	17	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693687	0.48202	.	.	ENSG00000109107	ENST00000395319;ENST00000226253;ENST00000395321;ENST00000435638	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	6.07	6.07	0.98685	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.87265	0.6134	M	0.61703	1.905	0.80722	D	1	B;B	0.32324	0.232;0.364	B;B	0.32805	0.072;0.153	D	0.86068	0.1536	10	0.87932	D	0	.	19.4154	0.94694	0.0:0.0:1.0:0.0	.	26;26	A8MVZ9;P09972	.;ALDOC_HUMAN	L	26	ENSP00000378729:P26L;ENSP00000226253:P26L;ENSP00000378731:P26L;ENSP00000398976:P26L	ENSP00000226253:P26L	P	-	2	0	ALDOC	23926601	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCG	ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.572	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	-	0	64	0	G			26902474	-1	tier1	-	no_errors	ENST00000226253	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	A	A	26902474	G	A	26902474	3	1	76	1	0	0	0	0	1	0	0	0	509	1116	39	1	1049	1	ALDOC	17	26902474	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	19323115	26902474	54292736	175	20025											
TOP2A	7153	genome.wustl.edu	37	chr17	38546381	38546381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttccttttggggcagcccTttttttggcaccggtagtgg	4	15	13	9	1	0	0	0	0	0	0	1	0	1	0	3	5	1	4	3	5	1	7			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:38546381T>C	ENST00000423485.1	-	34	4461	c.4303A>G	c.(4303-4305)Agg>Ggg	p.R1435G	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1435					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GGGGCAGCCCTTTTTTTGGCA	0.478																																																	0													60	54	56					17																	38546381		1865	4106	5971	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4303A>G	17.37:g.38546381T>C	ENSP00000411532:p.Arg1435Gly		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.R1435G	ENST00000423485.1	37	c.4303	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	T	8.262	0.811371	0.16537	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.52754	0.65	5.35	1.81	0.25067	DTHCT (1);	0.179132	0.64402	D	0.000017	T	0.31670	0.0804	L	0.36672	1.1	0.27155	N	0.961306	B	0.22604	0.072	B	0.26202	0.067	T	0.14727	-1.0462	10	0.23302	T	0.38	.	5.2131	0.15329	0.0:0.1596:0.152:0.6884	.	1435	P11388	TOP2A_HUMAN	G	1435;1515;1458;1472	ENSP00000411532:R1435G	ENSP00000269577:R1515G	R	-	1	2	TOP2A	35799907	1.000000	0.71417	0.998000	0.56505	0.042000	0.13812	1.320000	0.33666	0.384000	0.24942	0.482000	0.46254	AGG	TOP2A	-	pfam_DTHCT	ENSG00000131747		0.478	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	104	0	T			38546381	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	5.26	88	5	SNP	0.997	C	C	38546381	T	C	38546381	3	2	76	1	0	0	0	0	1	0	0	0	16413	1608	56	4	300	4	TOP2A	17	38546381	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	11643907	38546381	42648829	176	20026											
C17orf47	284083	genome.wustl.edu	37	chr17	56620413	56620413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgtaagtaatttctggggGtttttgggtttgctgtttat	6	20	12	3	0	1	0	0	0	1	0	1	0	1	0	0	3	1	6	0	3	3	8			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:56620413G>T	ENST00000321691.3	-	1	1316	c.1135C>A	c.(1135-1137)Ccc>Acc	p.P379T	SEPT4_ENST00000457347.2_5'Flank|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	379								p.P379T(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTTCTGGGGGTTTTTGGGTT	0.502																																																	1	Substitution - Missense(1)	lung(1)											146	132	137					17																	56620413		2203	4300	6503	SO:0001583	missense	0				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1135C>A	17.37:g.56620413G>T	ENSP00000354874:p.Pro379Thr		Q8N821	Missense_Mutation	SNP	NULL	p.P379T	ENST00000321691.3	37	c.1135	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483389	0.44147	.	.	ENSG00000181013	ENST00000321691	T	0.57107	0.42	5.0	2.95	0.34219	.	0.268702	0.26321	N	0.025049	T	0.34861	0.0912	L	0.27053	0.805	0.09310	N	1	P	0.46912	0.886	B	0.42245	0.381	T	0.11743	-1.0575	10	0.27785	T	0.31	-3.7848	6.0238	0.19644	0.0979:0.0:0.7152:0.1869	.	379	Q8NEP4	CQ047_HUMAN	T	379	ENSP00000354874:P379T	ENSP00000354874:P379T	P	-	1	0	C17orf47	53975412	0.002000	0.14202	0.002000	0.10522	0.030000	0.12068	0.490000	0.22403	0.483000	0.27608	0.561000	0.74099	CCC	C17orf47	-	NULL	ENSG00000181013		0.502	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	-	0	88	0	G	NM_001038704		56620413	-1	tier1	-	no_errors	ENST00000321691	ensembl	human	known	74_37	missense	34.91	69	37	SNP	0.009	T	T	56620413	G	T	56620413	3	4	76	1	0	0	0	0	1	0	0	0	1864	1261	44	3	585	3	C17orf47	17	56620413	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	18074032	56620413	24574797	177	20027											
TEX14	56155	genome.wustl.edu	37	chr17	56676583	56676583	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcttggcttctctggttGactcaggaaggctgagtgaa	7	13	13	8	0	3	3	1	3	2	0	4	4	3	4	0	4	1	4	0	4	2	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:56676583G>C	ENST00000240361.8	-	14	2226	c.2141C>G	c.(2140-2142)tCa>tGa	p.S714*	TEX14_ENST00000389934.3_Nonsense_Mutation_p.S708*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.S708*			Q8IWB6	TEX14_HUMAN	testis expressed 14	714					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCTCTGGTTGACTCAGGAAG	0.453																																																	0													203	193	196					17																	56676583		2203	4300	6503	SO:0001587	stop_gained	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"cancer/testis antigen 113"	605792	"testis expressed sequence 14"			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2141C>G	17.37:g.56676583G>C	ENSP00000240361:p.Ser714*		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.S714*	ENST00000240361.8	37	c.2141	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577970	0.86645	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.44	1.87	0.25490	.	1.147340	0.06246	N	0.691218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.1347	2.679	0.05088	0.1809:0.1466:0.522:0.1504	.	.	.	.	X	714;708;708	.	ENSP00000240361:S714X	S	-	2	0	TEX14	54031582	0.008000	0.16893	0.010000	0.14722	0.002000	0.02628	1.439000	0.35013	0.664000	0.31047	-0.175000	0.13238	TCA	TEX14	-	NULL	ENSG00000121101		0.453	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	-	0	39	0	G			56676583	-1	tier1	-	no_errors	ENST00000240361	ensembl	human	known	74_37	nonsense	12.28	50	7	SNP	0.000	C	C	56676583	G	C	56676583	4	2	76	1	0	0	0	0	0	1	0	0	15825	1294	45	5	2432	5	TEX14	17	56676583	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	56170	56676583	24518627	178	20028											
MRC2	9902	genome.wustl.edu	37	chr17	60742085	60742085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgcctgggcacaggctggCcaggcaccaacaccacggcc	9	3	13	16	1	0	0	0	0	0	0	0	0	0	0	5	5	2	3	5	5	1	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:60742085C>T	ENST00000303375.5	+	2	697	c.295C>T	c.(295-297)Cca>Tca	p.P99S	Y_RNA_ENST00000384652.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	99	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CACAGGCTGGCCAGGCACCAA	0.612																																																	0													77	71	73					17																	60742085		2203	4300	6503	SO:0001583	missense	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.295C>T	17.37:g.60742085C>T	ENSP00000307513:p.Pro99Ser		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.P99S	ENST00000303375.5	37	c.295	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067703	0.20067	.	.	ENSG00000011028	ENST00000303375	T	0.27402	1.67	5.23	5.23	0.72850	Ricin B-related lectin (1);Ricin B lectin (2);	0.426776	0.25885	N	0.027674	T	0.16428	0.0395	N	0.13098	0.295	0.80722	D	1	B	0.26809	0.16	B	0.17979	0.02	T	0.06144	-1.0843	10	0.07175	T	0.84	-25.5424	14.5256	0.67887	0.1471:0.8529:0.0:0.0	.	99	Q9UBG0	MRC2_HUMAN	S	99	ENSP00000307513:P99S	ENSP00000307513:P99S	P	+	1	0	MRC2	58095817	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.538000	0.45710	2.450000	0.82876	0.561000	0.74099	CCA	MRC2	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000011028		0.612	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	-	0	35	0	C			60742085	1	tier1	-	no_errors	ENST00000303375	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.992	T	T	60742085	C	T	60742085	3	4	76	1	0	0	0	0	1	0	0	0	9796	739	26	3	301	3	MRC2	17	60742085	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	4065502	60742085	20453125	179	20029											
TNRC6C	57690	genome.wustl.edu	37	chr17	76082657	76082657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggatccatgagacaacAggagcagcaagtaggtgcta	13	6	13	9	1	0	1	0	1	0	1	2	4	2	3	2	3	4	4	2	3	4	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:76082657A>G	ENST00000588061.1	+	14	4278	c.3551A>G	c.(3550-3552)cAg>cGg	p.Q1184R	TNRC6C_ENST00000541771.1_Missense_Mutation_p.Q1184R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.Q1181R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.Q1181R|TNRC6C_ENST00000301624.4_Missense_Mutation_p.Q1184R|TNRC6C_ENST00000335749.4_Missense_Mutation_p.Q1181R			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1184					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ATGAGACAACAGGAGCAGCAA	0.413																																																	0													82	83	82					17																	76082657		2012	4192	6204	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3551A>G	17.37:g.76082657A>G	ENSP00000468647:p.Gln1184Arg		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q1181R	ENST00000588061.1	37	c.3542	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	A	29.4	5.001513	0.93227	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.19394	2.15;2.16;2.16;2.15	5.4	5.4	0.78164	.	0.172411	0.53938	D	0.000058	T	0.43656	0.1257	M	0.72118	2.19	0.80722	D	1	D;D	0.67145	0.991;0.996	P;D	0.66084	0.805;0.941	T	0.21211	-1.0252	10	0.33141	T	0.24	-8.0742	15.583	0.76459	1.0:0.0:0.0:0.0	.	1181;1184	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	R	1184;1181;1181;1184;1184;1181	ENSP00000336783:Q1181R;ENSP00000301624:Q1184R;ENSP00000440310:Q1184R;ENSP00000442421:Q1181R	ENSP00000301624:Q1184R	Q	+	2	0	TNRC6C	73594252	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.551000	0.90678	2.270000	0.75569	0.533000	0.62120	CAG	TNRC6C	-	NULL	ENSG00000078687		0.413	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1		0	74	0	A	NM_018996		76082657	1			no_errors	ENST00000335749	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	G	G	76082657	A	G	76082657	3	3	76	1	0	0	0	0	1	0	0	0	16389	188	7	4	3589	4	TNRC6C	17	76082657	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	15340572	76082657	5112553	180	20030											
RNF213	57674	genome.wustl.edu	37	chr17	78298996	78298996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacgtcttcagattgtGtggtatgtttgcgggagtgc	7	13	14	7	2	2	1	1	0	1	1	2	2	2	2	0	2	3	3	0	2	2	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:78298996G>A	ENST00000582970.1	+	18	3334	c.3191G>A	c.(3190-3192)tGt>tAt	p.C1064Y	RNF213_ENST00000456466.1_Missense_Mutation_p.C1064Y|RNF213_ENST00000508628.2_Missense_Mutation_p.C1113Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1064					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTCAGATTGTGTGGTATGTTT	0.493																																																	0													135	97	109					17																	78298996		692	1591	2283	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.3191G>A	17.37:g.78298996G>A	ENSP00000464087:p.Cys1064Tyr		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.C1064Y	ENST00000582970.1	37	c.3191	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	7.813	0.716067	0.15306	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466	.	.	.	5.56	-4.21	0.03812	.	.	.	.	.	T	0.12475	0.0303	N	0.10916	0.065	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31696	-0.9934	8	0.02654	T	1	5.9567	4.6929	0.12790	0.3814:0.0:0.3728:0.2458	.	1064	Q9HCF4	ALO17_HUMAN	Y	1064;1113;1064	.	ENSP00000396478:C1113Y	C	+	2	0	RNF213	75913591	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.315000	0.19451	-1.273000	0.02424	-0.895000	0.02911	TGT	RNF213	-	NULL	ENSG00000173821		0.493	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	48	0	G	NM_020914		78298996	1			no_errors	ENST00000582970	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	A	A	78298996	G	A	78298996	3	1	76	1	0	0	0	0	1	0	0	0	13522	1377	48	3	3576	3	RNF213	17	78298996	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2216339	78298996	2896214	181	20031											
C17orf70	80233	genome.wustl.edu	37	chr17	79517802	79517802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagaccacagaggaccaCaggtgactgcaggagggtgg	12	3	18	8	0	0	3	0	1	0	2	0	6	0	5	2	6	1	1	2	6	0	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr17:79517802C>A	ENST00000327787.8	-	3	764	c.718G>T	c.(718-720)Gtg>Ttg	p.V240L	C17orf70_ENST00000425898.2_5'Flank|C17orf70_ENST00000537152.1_Missense_Mutation_p.V89L			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	240					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CAGAGGACCACAGGTGACTGC	0.647																																																	0													30	31	31					17																	79517802		2203	4300	6503	SO:0001583	missense	0			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"Fanconi anemia-associated protein, 100kDa"	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.718G>T	17.37:g.79517802C>A	ENSP00000333283:p.Val240Leu		A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	NULL	p.V240L	ENST00000327787.8	37	c.718	CCDS32765.2	17	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836111	0.32421	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246;ENST00000544302	T;T	0.42131	0.98;1.01	4.34	1.05	0.20165	.	0.246619	0.31685	N	0.007236	T	0.36138	0.0956	M	0.65498	2.005	0.09310	N	0.999998	P	0.35348	0.496	B	0.34242	0.178	T	0.30001	-0.9993	10	0.62326	D	0.03	.	6.9864	0.24731	0.0:0.5985:0.0:0.4015	.	240	Q0VG06	FP100_HUMAN	L	240;89;89;89	ENSP00000333283:V240L;ENSP00000440151:V89L	ENSP00000333283:V240L	V	-	1	0	C17orf70	77128244	0.017000	0.18338	0.013000	0.15412	0.757000	0.42996	1.376000	0.34306	0.476000	0.27440	-0.251000	0.11542	GTG	C17orf70	-	NULL	ENSG00000185504		0.647	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	-	0	64	0	C	NM_025161		79517802	-1	tier1	-	no_errors	ENST00000327787	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.060	A	A	79517802	C	A	79517802	3	1	76	1	0	0	0	0	1	0	0	0	1883	478	17	3	1955	3	C17orf70	17	79517802	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	1218806	79517802	1677408	182	20032											
SALL3	27164	genome.wustl.edu	37	chr18	76753906	76753906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccgggctgcccgccGtctccgagcagttcaaggcc	5	5	13	18	4	2	0	1	0	1	0	3	1	2	0	6	2	3	4	6	2	1	1	rs557725030	byFrequency	TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr18:76753906G>A	ENST00000537592.2	+	2	1915	c.1915G>A	c.(1915-1917)Gtc>Atc	p.V639I	SALL3_ENST00000575389.2_Missense_Mutation_p.V639I|SALL3_ENST00000536229.3_Missense_Mutation_p.V506I	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	639					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCTGCCCGCCGTCTCCGAGCA	0.692													G|||	2	0.000399361	0	0	5008	,	,		11925	0		0	False		,,,				2504	0.002																0													12	13	12					18																	76753906		2181	4286	6467	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1915G>A	18.37:g.76753906G>A	ENSP00000441823:p.Val639Ile		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V639I	ENST00000537592.2	37	c.1915	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	1.980	-0.434485	0.04669	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.08634	3.07	5.33	-2.28	0.06826	.	0.948766	0.08681	N	0.909443	T	0.02767	0.0083	N	0.04043	-0.29	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.001	T	0.46400	-0.9194	10	0.20046	T	0.44	-21.9646	1.475	0.02424	0.3742:0.1009:0.3191:0.2058	.	371;639	F5GXY4;Q9BXA9	.;SALL3_HUMAN	I	639;639;371	ENSP00000441823:V639I	ENSP00000299466:V639I	V	+	1	0	SALL3	74854894	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.064000	0.11636	-0.136000	0.11475	-0.182000	0.12963	GTC	SALL3	-	NULL	ENSG00000256463		0.692	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	-	0	13	0	G	NM_171999		76753906	1	tier1	-	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.000	A	A	76753906	G	A	76753906	3	1	76	1	0	0	0	0	1	0	0	0	13857	1145	40	1	1921	1	SALL3	18	76753906	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		76753906	1323342	183	20033											
REEP6	92840	genome.wustl.edu	37	chr19	1496413	1496413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatgaacgacctcagcGggcgagccctggacgcggcg	9	4	15	13	6	2	1	2	1	0	0	2	5	2	2	2	3	3	0	2	3	2	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:1496413G>T	ENST00000233596.3	+	4	582	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	160					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGACCTCAGCGGGCGAGCCCT	0.662																																																	0													49	54	53					19																	1496413		2203	4299	6502	SO:0001583	missense	0			BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"Receptor accessory proteins"	30078	protein-coding gene	gene with protein product	"polyposis locus protein 1-like 1", "deleted in polyposis 1-like 1"	609346	"chromosome 19 open reading frame 32"	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.478G>T	19.37:g.1496413G>T	ENSP00000233596:p.Gly160Trp		B2RE01|D6W5Z0|Q96LM0	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.G160W	ENST00000233596.3	37	c.478	CCDS12070.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.92|15.92	2.975864|2.975864	0.53720|0.53720	.|.	.|.	ENSG00000115255|ENSG00000115255	ENST00000233596;ENST00000395479|ENST00000395484	T|.	0.44482|.	0.92|.	4.97|4.97	1.62|1.62	0.23740|0.23740	.|.	.|.	.|.	.|.	.|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D|.	0.76494|.	0.999|.	D|.	0.71184|.	0.972|.	T|T	0.24476|0.24476	-1.0159|-1.0159	9|6	0.72032|0.23302	D|T	0.01|0.38	-0.2221|-0.2221	5.4786|5.4786	0.16710|0.16710	0.263:0.1477:0.5893:0.0|0.263:0.1477:0.5893:0.0	.|.	160|.	Q96HR9|.	REEP6_HUMAN|.	W|L	160|227	ENSP00000233596:G160W|.	ENSP00000233596:G160W|ENSP00000378865:R227L	G|R	+|+	1|2	0|0	REEP6|REEP6	1447413|1447413	0.081000|0.081000	0.21417|0.21417	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	2.210000|2.210000	0.42816|0.42816	0.150000|0.150000	0.19136|0.19136	0.552000|0.552000	0.68991|0.68991	GGG|CGG	REEP6	-	NULL	ENSG00000115255		0.662	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP6	HGNC	protein_coding	OTTHUMT00000449623.1		0	84	0	G	NM_138393		1496413	1			no_errors	ENST00000233596	ensembl	human	known	74_37	missense	5.19	72	4	SNP	0.001	T	T	1496413	G	T	1496413	3	4	76	1	0	0	0	0	1	0	0	0	13254	1116	39	2	492	2	REEP6	19	1496413	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		1496413	57632570	184	20034											
ATP8B3	148229	genome.wustl.edu	37	chr19	1785540	1785540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtcgctgaagctggcGggtcccgccgtgtcgcggct	2	9	18	12	6	0	1	0	1	0	0	3	1	1	1	2	5	1	3	2	5	1	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:1785540G>A	ENST00000310127.6	-	26	3559	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P	ATP8B3_ENST00000525591.1_Silent_p.P1070P|ATP8B3_ENST00000539485.1_Silent_p.P1117P	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1107					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGCTGGCGGGTCCCGCCG	0.622																																																	0													32	40	38					19																	1785540		2060	4184	6244	SO:0001819	synonymous_variant	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3321C>T	19.37:g.1785540G>A			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.P1117	ENST00000310127.6	37	c.3351	CCDS45901.1	19																																																																																			ATP8B3	-	NULL	ENSG00000130270		0.622	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0	82	0	G	NM_138813		1785540	-1	tier1	-	no_errors	ENST00000539485	ensembl	human	known	74_37	silent	38.57	43	27	SNP	0.000	A	A	1785540	G	A	1785540	2	1	76	1	0	0	0	0	0	0	0	1	1197	1103	39	1		1	ATP8B3	19	1785540	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	289127	1785540	57343443	185	20035											
ZNF699	374879	genome.wustl.edu	37	chr19	9407537	9407537	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgagtgaatcaagattTggaacttggctgaaagtctg	11	13	11	6	0	3	4	1	3	2	1	3	5	3	5	0	2	1	1	0	2	4	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:9407537T>A	ENST00000591998.1	-	6	771	c.543A>T	c.(541-543)ccA>ccT	p.P181P	CTC-325H20.4_ENST00000591336.1_RNA|ZNF699_ENST00000308650.3_Silent_p.P181P			Q32M78	ZN699_HUMAN	zinc finger protein 699	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATCAAGATTTGGAACTTGGC	0.348																																																	0													76	68	71					19																	9407537		1889	4124	6013	SO:0001819	synonymous_variant	0			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"Zinc fingers, C2H2-type", "-"	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.543A>T	19.37:g.9407537T>A			Q8N9A1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P181	ENST00000591998.1	37	c.543	CCDS42495.1	19																																																																																			ZNF699	-	NULL	ENSG00000196110		0.348	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1		0	58	0	T	NM_198535		9407537	-1			no_errors	ENST00000308650	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.018	A	A	9407537	T	A	9407537	2	1	76	1	0	0	0	0	0	0	0	1	18149	1799	63	5		5	ZNF699	19	9407537	Silent	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	7621997	9407537	49721446	186	20036											
KEAP1	9817	genome.wustl.edu	37	chr19	10602340	10602340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccaccccgatgcggttaCggggcacgctcatgggggcg	5	5	15	16	5	1	0	1	0	0	0	1	1	1	0	4	5	2	3	4	5	1	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:10602340C>T	ENST00000171111.5	-	3	1785	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	KEAP1_ENST00000393623.2_Missense_Mutation_p.R413H|KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	413					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GATGCGGTTACGGGGCACGCT	0.647																																																	0													33	28	30					19																	10602340		2202	4300	6502	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1238G>A	19.37:g.10602340C>T	ENSP00000171111:p.Arg413His		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R413H	ENST00000171111.5	37	c.1238	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833797	0.91036	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.79554	-1.28;-1.28	5.6	5.6	0.85130	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92163	0.7515	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93638	0.6962	10	0.87932	D	0	.	17.1192	0.86697	0.0:1.0:0.0:0.0	.	413	Q14145	KEAP1_HUMAN	H	413	ENSP00000171111:R413H;ENSP00000377245:R413H	ENSP00000171111:R413H	R	-	2	0	KEAP1	10463340	1.000000	0.71417	0.988000	0.46212	0.750000	0.42670	5.913000	0.69957	2.662000	0.90505	0.655000	0.94253	CGT	KEAP1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.647	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0	26	0	C	NM_012289		10602340	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	missense	36.84	24	14	SNP	1.000	T	T	10602340	C	T	10602340	3	4	76	1	0	0	0	0	1	0	0	0	8168	536	19	1	652	1	KEAP1	19	10602340	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	1194803	10602340	48526643	187	20037											
S1PR5	53637	genome.wustl.edu	37	chr19	10624599	10624599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggggcgatgagcgctcCgagccgctgaagctcccatc	6	6	14	15	5	0	2	0	2	0	0	3	4	2	2	3	2	3	4	3	2	1	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:10624599C>T	ENST00000439028.3	-	2	1214	c.1089G>A	c.(1087-1089)tcG>tcA	p.S363S	S1PR5_ENST00000333430.4_Silent_p.S363S	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	363					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	ATGAGCGCTCCGAGCCGCTGA	0.736																																																	0													10	13	12					19																	10624599		2130	4178	6308	SO:0001819	synonymous_variant	0			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.1089G>A	19.37:g.10624599C>T			Q6NW11	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.S363	ENST00000439028.3	37	c.1089	CCDS12240.1	19																																																																																			S1PR5	-	prints_EDG8_S1P_rcpt	ENSG00000180739		0.736	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	-	0	12	0	C	NM_030760		10624599	-1	tier1	-	no_errors	ENST00000333430	ensembl	human	known	74_37	silent	66.67	6	12	SNP	0.053	T	T	10624599	C	T	10624599	2	4	76	1	0	0	0	0	0	0	0	1	13842	639	23	1		1	S1PR5	19	10624599	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	22259	10624599	48504384	188	20038											
TNPO2	30000	genome.wustl.edu	37	chr19	12822221	12822221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcgtgacttgtggaagcGtggcttgatgtcctgctcac	5	12	14	10	3	1	2	1	2	0	0	2	3	2	3	1	2	3	2	1	2	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:12822221G>A	ENST00000592287.1	-	11	1114	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	TNPO2_ENST00000441499.1_Missense_Mutation_p.R336C|TNPO2_ENST00000356861.5_Missense_Mutation_p.R336C|TNPO2_ENST00000450764.2_Missense_Mutation_p.R336C|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000425528.1_Missense_Mutation_p.R336C|TNPO2_ENST00000588216.1_Missense_Mutation_p.R336C	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	336					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.R336C(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGTGGAAGCGTGGCTTGATG	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											158	168	165					19																	12822221		2200	4291	6491	SO:0001583	missense	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"Importins"	19998	protein-coding gene	gene with protein product	"importin 3", "karyopherin beta 2b"	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.1006C>T	19.37:g.12822221G>A	ENSP00000468434:p.Arg336Cys		O14655|Q6IN77	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R336C	ENST00000592287.1	37	c.1006	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719223	0.89205	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.44	4.37	0.52481	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.951	D	0.88924	0.3368	10	0.87932	D	0	-3.8122	14.4799	0.67573	0.0:0.0:0.8524:0.1476	.	500;336	Q4LE60;O14787	.;TNPO2_HUMAN	C	500;336;336;336;336;336;336	ENSP00000407182:R336C;ENSP00000389648:R336C;ENSP00000397379:R336C;ENSP00000349321:R336C	ENSP00000349321:R336C	R	-	1	0	TNPO2	12683221	1.000000	0.71417	0.991000	0.47740	0.920000	0.55202	7.621000	0.83083	2.556000	0.86216	0.561000	0.74099	CGC	TNPO2	-	superfamily_ARM-type_fold	ENSG00000105576		0.617	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1		0	62	0	G	NM_013433		12822221	-1			no_errors	ENST00000425528	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.995	A	A	12822221	G	A	12822221	3	1	76	1	0	0	0	0	1	0	0	0	16383	1145	40	1	1743	1	TNPO2	19	12822221	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	2197622	12822221	46306762	189	20039											
ZNF626	199777	genome.wustl.edu	37	chr19	20807456	20807456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtgtagtaaggttagaGgagtacttaaaagctttgcc	12	14	11	4	0	0	1	0	0	0	1	0	2	0	2	1	2	3	5	1	2	7	7			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:20807456G>A	ENST00000601440.1	-	4	1373	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAAGGTTAGAGGAGTACTTAA	0.403																																																	0													58	61	60					19																	20807456		2152	4276	6428	SO:0001819	synonymous_variant	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1227C>T	19.37:g.20807456G>A			Q8N8T4|Q96QM1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S409	ENST00000601440.1	37	c.1227	CCDS42535.1	19																																																																																			ZNF626	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188171		0.403	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	-	0	60	0	G	NM_145297		20807456	-1	tier1	-	no_errors	ENST00000601440	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.000	A	A	20807456	G	A	20807456	2	1	76	1	0	0	0	0	0	0	0	1	18098	987	35	3		3	ZNF626	19	20807456	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	7985235	20807456	38321527	190	20040											
ZNF45	7596	genome.wustl.edu	37	chr19	44418047	44418047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgatgcacctgaaggCtggagaactgactgaaggcc	10	8	12	11	0	1	5	0	4	1	1	2	6	1	5	2	3	2	2	2	3	3	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:44418047C>T	ENST00000269973.5	-	10	2631	c.1541G>A	c.(1540-1542)aGc>aAc	p.S514N	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.S514N	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	514					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CACCTGAAGGCTGGAGAACTG	0.488																																																	0													70	63	66					19																	44418047		2203	4300	6503	SO:0001583	missense	0			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"Zinc fingers, C2H2-type", "-"	13111	protein-coding gene	gene with protein product		194554	"zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)", "zinc finger protein 13"	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1541G>A	19.37:g.44418047C>T	ENSP00000269973:p.Ser514Asn		P17016|P78472|Q9P1U9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S514N	ENST00000269973.5	37	c.1541	CCDS12632.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.168|1.168	-0.641823|-0.641823	0.03531|0.03531	.|.	.|.	ENSG00000124459|ENSG00000124459	ENST00000328762|ENST00000269973	.|T	.|0.15718	.|2.4	3.61|3.61	2.54|2.54	0.30619|0.30619	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.42548	.|D	.|0.000692	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.13140|0.13140	0.3|0.3	0.09310|0.09310	N|N	1|1	.|B	.|0.22604	.|0.072	.|B	.|0.23018	.|0.043	T|T	0.37502|0.37502	-0.9703|-0.9703	6|10	0.18710|0.12103	T|T	0.47|0.63	-16.2863|-16.2863	5.8651|5.8651	0.18771|0.18771	0.1925:0.7031:0.0:0.1045|0.1925:0.7031:0.0:0.1045	.|.	.|514	.|Q02386	.|ZNF45_HUMAN	T|N	514|514	.|ENSP00000269973:S514N	ENSP00000367176:A514T|ENSP00000269973:S514N	A|S	-|-	1|2	0|0	ZNF45|ZNF45	49109887|49109887	0.000000|0.000000	0.05858|0.05858	0.929000|0.929000	0.37066|0.37066	0.676000|0.676000	0.39594|0.39594	-0.803000|-0.803000	0.04540|0.04540	0.830000|0.830000	0.34757|0.34757	0.455000|0.455000	0.32223|0.32223	GCC|AGC	ZNF45	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124459		0.488	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	-	0	87	0	C	NM_003425		44418047	-1	tier1	-	no_errors	ENST00000269973	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.002	T	T	44418047	C	T	44418047	3	4	76	1	0	0	0	0	1	0	0	0	17969	797	28	3	511	3	ZNF45	19	44418047	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	23610591	44418047	14710936	191	20041											
EML2	24139	genome.wustl.edu	37	chr19	46124822	46124822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagacaccagcgtcccGtcccgcagggcgcagagccc	7	3	11	20	4	0	2	0	0	0	2	3	2	3	2	6	1	2	2	6	1	0	0	rs148351202		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:46124822G>A	ENST00000245925.3	-	10	965	c.915C>T	c.(913-915)gaC>gaT	p.D305D	EML2_ENST00000536630.1_Silent_p.D452D|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Silent_p.D305D|EML2_ENST00000587152.1_Silent_p.D506D	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	305	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.D305D(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CCAGCGTCCCGTCCCGCAGGG	0.692																																																	1	Substitution - coding silent(1)	large_intestine(1)							,,	1,4405	2.1+/-5.4	0,1,2202	46	47	47		1518,1356,915	3.2	1	19	dbSNP_134	47	2,8594	2.2+/-6.3	0,2,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	EML2	NM_001193268.1,NM_001193269.1,NM_012155.2	,,	0,3,6498	AA,AG,GG		0.0233,0.0227,0.0231	,,	506/851,452/797,305/650	46124822	3,12999	2203	4298	6501	SO:0001819	synonymous_variant	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.915C>T	19.37:g.46124822G>A			B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D506	ENST00000245925.3	37	c.1518	CCDS12670.1	19																																																																																			EML2	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000125746		0.692	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	-	0	110	0	G	NM_012155		46124822	-1	tier1	rs148351202	no_errors	ENST00000587152	ensembl	human	known	74_37	silent	37.25	64	38	SNP	1.000	A	A	46124822	G	A	46124822	2	1	76	1	0	0	0	0	0	0	0	1	5113	1136	40	1		1	EML2	19	46124822	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	1706775	46124822	13004161	192	20042											
SCAF1	58506	genome.wustl.edu	37	chr19	50156668	50156668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctgaggtctccttcctgCccgaggaggccactgaggag	7	7	13	14	1	1	2	0	2	1	0	3	5	2	4	5	4	1	0	5	4	0	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:50156668C>T	ENST00000360565.3	+	7	3146	c.3022C>T	c.(3022-3024)Ccc>Tcc	p.P1008S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1008					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTCCTTCCTGCCCGAGGAGGC	0.667																																																	0													6	7	7					19																	50156668		2082	4165	6247	SO:0001583	missense	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3022C>T	19.37:g.50156668C>T	ENSP00000353769:p.Pro1008Ser		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.P1008S	ENST00000360565.3	37	c.3022	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437645	0.43224	.	.	ENSG00000126461	ENST00000360565	T	0.35789	1.29	5.07	5.07	0.68467	.	0.000000	0.43919	D	0.000505	T	0.43055	0.1230	L	0.27053	0.805	0.36664	D	0.878091	D	0.60575	0.988	P	0.59115	0.852	T	0.40194	-0.9576	9	.	.	.	-14.9424	17.3633	0.87357	0.0:1.0:0.0:0.0	.	1008	Q9H7N4	SFR19_HUMAN	S	1008	ENSP00000353769:P1008S	.	P	+	1	0	SCAF1	54848480	0.773000	0.28580	0.994000	0.49952	0.977000	0.68977	1.179000	0.31993	2.632000	0.89209	0.655000	0.94253	CCC	SCAF1	-	NULL	ENSG00000126461		0.667	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	-	0	68	0	C	NM_021228		50156668	1	tier1	-	no_errors	ENST00000360565	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.959	T	T	50156668	C	T	50156668	3	4	76	1	0	0	0	0	1	0	0	0	13913	739	26	3	3044	3	SCAF1	19	50156668	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	4031846	50156668	8972315	193	20043											
TMEM190	147744	genome.wustl.edu	37	chr19	55889435	55889435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgctgctctccaagcaccGagggaccaagaagacgccgt	10	5	11	15	4	1	2	0	0	1	2	3	4	1	3	4	1	2	3	4	1	3	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:55889435G>A	ENST00000291934.3	+	5	416	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	133					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.R133P(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TCCAAGCACCGAGGGACCAAG	0.667																																																	1	Substitution - Missense(1)	lung(1)											37	34	35					19																	55889435		2202	4298	6500	SO:0001583	missense	0			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.398G>A	19.37:g.55889435G>A	ENSP00000291934:p.Arg133Gln		A6NJL5	Missense_Mutation	SNP	superfamily_P_trefoil	p.R133Q	ENST00000291934.3	37	c.398	CCDS33113.1	19	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522603	0.64747	.	.	ENSG00000160472	ENST00000291934	.	.	.	2.8	1.76	0.24704	.	0.247197	0.20806	N	0.085339	T	0.20292	0.0488	L	0.27053	0.805	0.09310	N	0.999998	P	0.36065	0.535	B	0.32149	0.141	T	0.14282	-1.0478	9	0.87932	D	0	-12.3116	5.4794	0.16715	0.1615:0.0:0.8385:0.0	.	133	Q8WZ59	TM190_HUMAN	Q	133	.	ENSP00000291934:R133Q	R	+	2	0	TMEM190	60581247	0.001000	0.12720	0.271000	0.24616	0.089000	0.18198	0.079000	0.14782	0.747000	0.32809	0.313000	0.20887	CGA	TMEM190	-	NULL	ENSG00000160472		0.667	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM190	HGNC	protein_coding	OTTHUMT00000453042.1	-	0	129	0	G	NM_139172		55889435	1	tier1	-	no_errors	ENST00000291934	ensembl	human	known	74_37	missense	43.75	63	49	SNP	0.258	A	A	55889435	G	A	55889435	3	1	76	1	0	0	0	0	1	0	0	0	16161	1058	37	1	416	1	TMEM190	19	55889435	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	5732767	55889435	3239548	194	20044											
ZNF784	147808	genome.wustl.edu	37	chr19	56133668	56133668	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccggagcaggggcgccaAggccttgaaggcgcgggggc	6	3	21	11	4	0	1	0	1	0	0	0	2	0	2	3	7	2	1	3	7	2	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:56133668A>T	ENST00000325351.4	-	2	460	c.421T>A	c.(421-423)Ttg>Atg	p.L141M	ZNF784_ENST00000591479.1_3'UTR	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	141					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGGGGCGCCAAGGCCTTGAAG	0.756																																																	0													2	3	3					19																	56133668		1573	3329	4902	SO:0001583	missense	0			AK074859	CCDS12930.1	19q13.42	2013-01-08			ENSG00000179922	ENSG00000179922		"Zinc fingers, C2H2-type"	33111	protein-coding gene	gene with protein product							Standard	NM_203374		Approved	MGC75238	uc002qll.1	Q8NCA9	OTTHUMG00000180860	ENST00000325351.4:c.421T>A	19.37:g.56133668A>T	ENSP00000320096:p.Leu141Met			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L141M	ENST00000325351.4	37	c.421	CCDS12930.1	19	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214737	0.39102	.	.	ENSG00000179922	ENST00000325351	T	0.09073	3.02	3.0	0.788	0.18601	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29424	N	0.012182	T	0.10852	0.0265	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.27226	-1.0080	10	0.49607	T	0.09	-13.2797	3.5871	0.07975	0.5361:0.2114:0.2525:0.0	.	141	Q8NCA9	ZN784_HUMAN	M	141	ENSP00000320096:L141M	ENSP00000320096:L141M	L	-	1	2	ZNF784	60825480	0.000000	0.05858	0.991000	0.47740	0.643000	0.38383	-1.836000	0.01690	0.199000	0.20427	0.379000	0.24179	TTG	ZNF784	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179922		0.756	ZNF784-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF784	HGNC	protein_coding	OTTHUMT00000453355.2	-	0	16	0	A	NM_203374		56133668	-1	tier1	-	no_errors	ENST00000325351	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.984	T	T	56133668	A	T	56133668	3	4	76	1	0	0	0	0	1	0	0	0	18204	69	3	5	554	5	ZNF784	19	56133668	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	244233	56133668	2995315	195	20045											
ZNF582	147948	genome.wustl.edu	37	chr19	56895939	56895939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacattccttacactgatAgggtttctcgcctgtgtgag	7	13	10	11	1	1	2	0	2	1	0	3	2	2	2	3	1	1	1	3	1	2	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:56895939A>G	ENST00000301310.4	-	5	1005	c.847T>C	c.(847-849)Tat>Cat	p.Y283H	ZNF582_ENST00000586929.1_Missense_Mutation_p.Y283H|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	283					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y283H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTACACTGATAGGGTTTCTCG	0.418																																					Ovarian(183;1887 2032 4349 30507 51343)												1	Substitution - Missense(1)	large_intestine(1)											71	60	64					19																	56895939		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.847T>C	19.37:g.56895939A>G	ENSP00000301310:p.Tyr283His		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y283H	ENST00000301310.4	37	c.847	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	A	17.12	3.309056	0.60414	.	.	ENSG00000018869	ENST00000301310	T	0.21734	1.99	4.88	3.79	0.43588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32416	N	0.006131	T	0.30823	0.0777	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.98;0.999	T	0.02966	-1.1088	10	0.87932	D	0	.	11.357	0.49621	0.8491:0.1509:0.0:0.0	.	283;314	Q96NG8;B4DQZ9	ZN582_HUMAN;.	H	283	ENSP00000301310:Y283H	ENSP00000301310:Y283H	Y	-	1	0	ZNF582	61587751	0.123000	0.22298	0.004000	0.12327	0.037000	0.13140	4.031000	0.57267	2.164000	0.68074	0.533000	0.62120	TAT	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.418	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0	88	0	A	NM_144690		56895939	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.029	G	G	56895939	A	G	56895939	3	3	76	1	0	0	0	0	1	0	0	0	18062	420	15	4	710	4	ZNF582	19	56895939	Missense_Mutation	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	762271	56895939	2233044	196	20046											
DUXA	503835	genome.wustl.edu	37	chr19	57672115	57672115	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgatgaggattttcaactGttcttctgtgaattttgtgc	8	19	9	5	0	3	3	1	3	2	0	3	4	3	4	0	1	2	1	0	1	2	7	rs144329847	byFrequency	TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:57672115G>A	ENST00000554048.2	-	2	75	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		ATTTTCAACTGTTCTTCTGTG	0.343																																																	0													172	166	168					19																	57672115		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"Homeoboxes / PRD class"	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.76C>T	19.37:g.57672115G>A	ENSP00000452398:p.Gln26*			Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.Q26*	ENST00000554048.2	37	c.76	CCDS33126.1	19	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825236	0.50739	.	.	ENSG00000258873	ENST00000554048	.	.	.	2.96	2.96	0.34315	.	0.000000	0.32204	N	0.006423	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.6496	9.6547	0.39919	0.0:0.0:1.0:0.0	.	.	.	.	X	26	.	ENSP00000365415:Q26X	Q	-	1	0	DUXA	62363927	0.408000	0.25360	0.019000	0.16419	0.715000	0.41141	2.198000	0.42705	1.965000	0.57142	0.561000	0.74099	CAG	DUXA	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000258873		0.343	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	DUXA	HGNC	protein_coding	OTTHUMT00000410075.3		0	79	0	G	NM_001012729		57672115	-1			no_errors	ENST00000554048	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.026	A	A	57672115	G	A	57672115	4	1	76	1	0	0	0	0	0	1	0	0	4848	1386	48	3	558	3	DUXA	19	57672115	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	776176	57672115	1456868	197	20047											
ZNF805	390980	genome.wustl.edu	37	chr19	57765566	57765566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttcgagtgcaaagagtGtgggaaagcctttagcaata	13	10	11	7	1	0	1	0	0	0	1	1	3	0	2	2	1	3	2	2	1	5	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr19:57765566G>T	ENST00000414468.2	+	4	1379	c.1379G>T	c.(1378-1380)tGt>tTt	p.C460F	ZNF805_ENST00000535550.1_Missense_Mutation_p.C327F|ZNF805_ENST00000354309.4_Missense_Mutation_p.C327F	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						TGCAAAGAGTGTGGGAAAGCC	0.493																																																	0													59	58	58					19																	57765566		692	1591	2283	SO:0001583	missense	0			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"Zinc fingers, C2H2-type", "-"	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1379G>T	19.37:g.57765566G>T	ENSP00000412999:p.Cys460Phe		B4DNM5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C460F	ENST00000414468.2	37	c.1379	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878402	0.72294	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	D;D;D	0.85861	-2.04;-2.04;-2.04	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000055	D	0.95755	0.8619	H	0.99299	4.505	0.45883	D	0.99873	D	0.89917	1.0	D	0.97110	1.0	D	0.97690	1.0178	10	0.87932	D	0	.	15.828	0.78730	0.0:0.0:1.0:0.0	.	460	Q5CZA5	ZN805_HUMAN	F	327;460;327	ENSP00000440067:C327F;ENSP00000412999:C460F;ENSP00000365414:C327F	ENSP00000365414:C327F	C	+	2	0	ZNF805	62457378	1.000000	0.71417	0.951000	0.38953	0.963000	0.63663	5.775000	0.68915	2.322000	0.78497	0.563000	0.77884	TGT	ZNF805	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204524		0.493	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1		0	103	0	G	NM_001023563		57765566	1			no_errors	ENST00000414468	ensembl	human	known	74_37	missense	5.21	91	5	SNP	1.000	T	T	57765566	G	T	57765566	3	4	76	1	0	0	0	0	1	0	0	0	18220	1377	48	3	1393	3	ZNF805	19	57765566	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	93451	57765566	1363417	198	20048											
TRMT6	51605	genome.wustl.edu	37	chr20	5922605	5922605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcaacgcacccatctgcGtttctttcactcagcagagc	9	10	6	16	2	5	1	3	0	2	1	5	1	5	1	2	0	4	3	2	0	1	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr20:5922605G>T	ENST00000203001.2	-	8	1234	c.1104C>A	c.(1102-1104)aaC>aaA	p.N368K	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.N198K	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	368					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.N368N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACCCATCTGCGTTTCTTTCAC	0.453																																																	1	Substitution - coding silent(1)	large_intestine(1)											235	226	229					20																	5922605		2203	4300	6503	SO:0001583	missense	0			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1104C>A	20.37:g.5922605G>T	ENSP00000203001:p.Asn368Lys		B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Missense_Mutation	SNP	pfam_EIF3_gamma,pirsf_tRNA_m1A_mtfrase	p.N368K	ENST00000203001.2	37	c.1104	CCDS13093.1	20	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312671	0.60414	.	.	ENSG00000089195	ENST00000203001;ENST00000453074	T;T	0.21932	2.0;1.98	6.17	-10.3	0.00346	.	0.000000	0.85682	D	0.000000	T	0.23611	0.0571	L	0.28649	0.875	0.51012	D	0.999902	D	0.89917	1.0	D	0.77557	0.99	T	0.71909	-0.4450	10	0.07813	T	0.8	-26.5267	20.2849	0.98532	0.825:0.0:0.175:0.0	.	368	Q9UJA5	TRM6_HUMAN	K	368;198	ENSP00000203001:N368K;ENSP00000392070:N198K	ENSP00000203001:N368K	N	-	3	2	TRMT6	5870605	0.595000	0.26857	0.533000	0.28001	0.606000	0.37113	-0.090000	0.11163	-1.836000	0.01190	-1.623000	0.00790	AAC	TRMT6	-	pirsf_tRNA_m1A_mtfrase	ENSG00000089195		0.453	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT6	HGNC	protein_coding	OTTHUMT00000077889.2	-	0	32	0	G			5922605	-1	tier1	-	no_errors	ENST00000203001	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.417	T	T	5922605	G	T	5922605	3	4	76	1	0	0	0	0	1	0	0	0	16616	1136	40	2	405	2	TRMT6	20	5922605	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		5922605	57102915	199	20049											
ZNF335	63925	genome.wustl.edu	37	chr20	44590785	44590785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgcactcgtcacactTgtagggcttgctgcccacgt	6	11	11	13	2	1	0	1	0	0	0	2	0	1	0	1	1	4	6	1	1	2	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr20:44590785T>C	ENST00000322927.2	-	10	1670	c.1570A>G	c.(1570-1572)Aag>Gag	p.K524E	ZNF335_ENST00000426788.1_Missense_Mutation_p.K369E	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	524					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TCGTCACACTTGTAGGGCTTG	0.637																																																	0													195	147	163					20																	44590785		2203	4300	6503	SO:0001583	missense	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1570A>G	20.37:g.44590785T>C	ENSP00000325326:p.Lys524Glu		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K524E	ENST00000322927.2	37	c.1570	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846847	0.91277	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.16196	2.36;2.36	4.87	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30572	0.0769	L	0.43757	1.38	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.994;0.995	T	0.02728	-1.1118	10	0.17369	T	0.5	-34.8234	13.7947	0.63164	0.0:0.0:0.0:1.0	.	369;524	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	E	524;301;369	ENSP00000325326:K524E;ENSP00000397098:K369E	ENSP00000243961:K301E	K	-	1	0	ZNF335	44024192	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.412000	0.80091	2.043000	0.60533	0.402000	0.26972	AAG	ZNF335	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198026		0.637	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0	56	0	T	NM_022095		44590785	-1	tier1	-	no_errors	ENST00000322927	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	C	C	44590785	T	C	44590785	3	2	76	1	0	0	0	0	1	0	0	0	17900	1821	63	4	2534	4	ZNF335	20	44590785	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	38668180	44590785	18434735	200	20050											
KCNQ2	3785	genome.wustl.edu	37	chr20	62103553	62103553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgaacgcccagccgcgCggccgctccagcacgttgta	8	6	12	15	6	0	2	0	1	0	1	1	2	1	2	4	1	3	4	4	1	3	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr20:62103553C>T	ENST00000359125.2	-	1	438	c.264G>A	c.(262-264)ccG>ccA	p.P88P	KCNQ2_ENST00000354587.3_Silent_p.P88P|KCNQ2_ENST00000344425.5_Silent_p.P88P|KCNQ2_ENST00000360480.3_Silent_p.P88P|KCNQ2_ENST00000344462.4_Silent_p.P88P|KCNQ2_ENST00000357249.2_Silent_p.P88P|KCNQ2_ENST00000370224.1_Silent_p.P88P|KCNQ2_ENST00000359689.1_Silent_p.P88P	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	88					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CCCAGCCGCGCGGCCGCTCCA	0.721																																																	0													7	8	8					20																	62103553		2123	4193	6316	SO:0001819	synonymous_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.264G>A	20.37:g.62103553C>T			O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.P88	ENST00000359125.2	37	c.264	CCDS13520.1	20																																																																																			KCNQ2	-	NULL	ENSG00000075043		0.721	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	-	0	75	0	C	NM_172109		62103553	-1	tier1	-	no_errors	ENST00000354587	ensembl	human	known	74_37	silent	32.39	48	23	SNP	0.989	T	T	62103553	C	T	62103553	2	4	76	1	0	0	0	0	0	0	0	1	8110	755	27	1		1	KCNQ2	20	62103553	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	17512768	62103553	921967	201	20051											
MYT1	4661	genome.wustl.edu	37	chr20	62853285	62853285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcttcttctgaagcaGatgaccaggaagtgtcggaa	10	12	11	8	1	2	3	0	2	2	1	3	5	2	5	1	2	2	2	1	2	3	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr20:62853285G>T	ENST00000328439.1	+	14	2645	c.2281G>T	c.(2281-2283)Gat>Tat	p.D761Y	MYT1_ENST00000360149.4_Missense_Mutation_p.D463Y|MYT1_ENST00000536311.1_Missense_Mutation_p.D788Y	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D761H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTGAAGCAGATGACCAGGA	0.517																																					GBM(59;481 1041 20555 21139 33705)												1	Substitution - Missense(1)	lung(1)											54	55	55					20																	62853285		2203	4300	6503	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2281G>T	20.37:g.62853285G>T	ENSP00000327465:p.Asp761Tyr		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D788Y	ENST00000328439.1	37	c.2362	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514338	0.64522	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.51325	0.71;0.71;0.71	5.12	5.12	0.69794	Myelin transcription factor 1 (1);	0.056706	0.64402	D	0.000002	T	0.65811	0.2727	L	0.55481	1.735	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.979	T	0.68187	-0.5475	10	0.66056	D	0.02	-22.5786	18.5518	0.91068	0.0:0.0:1.0:0.0	.	788;761;463	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	Y	463;761;788	ENSP00000353269:D463Y;ENSP00000327465:D761Y;ENSP00000442412:D788Y	ENSP00000327465:D761Y	D	+	1	0	MYT1	62323729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.332000	0.96446	2.396000	0.81511	0.655000	0.94253	GAT	MYT1	-	pfam_Myelin_TF	ENSG00000196132		0.517	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1		0	51	0	G	NM_004535		62853285	1			no_errors	ENST00000536311	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	62853285	G	T	62853285	3	4	76	1	0	0	0	0	1	0	0	0	10144	942	33	3	2327	3	MYT1	20	62853285	Missense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	749732	62853285	172235	202	20052											
NCAM2	4685	genome.wustl.edu	37	chr21	22664561	22664561	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcattgttattgttaatGgtaagcagtaaataatttgt	14	18	7	2	0	1	0	1	0	0	0	1	0	1	0	0	1	1	5	0	1	7	9			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr21:22664561G>A	ENST00000400546.1	+	5	868	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	NCAM2_ENST00000535285.1_Splice_Site_p.V232M|NCAM2_ENST00000284894.7_Splice_Site_p.V65M	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	207					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TATTGTTAATGGTAAGCAGTA	0.318																																																	0													140	140	140					21																	22664561		1824	4091	5915	SO:0001630	splice_region_variant	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.619+1G>A	21.37:g.22664561G>A			A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.V207M	ENST00000400546.1	37	c.619	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605452	0.87157	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.78707	1.59;-1.2;1.59	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	M	0.80847	2.515	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.68192	0.956;0.943;0.918	D	0.89635	0.3858	10	0.87932	D	0	-12.9893	18.0179	0.89247	0.0:0.0:1.0:0.0	.	232;65;207	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	M	207;65;232	ENSP00000383392:V207M;ENSP00000284894:V65M;ENSP00000441887:V232M	ENSP00000284894:V65M	V	+	1	0	NCAM2	21586432	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.391000	0.97249	2.662000	0.90505	0.655000	0.94253	GTG	NCAM2	-	prints_Neural_cell_adh	ENSG00000154654		0.318	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1		0	55	0	G	NM_004540	Missense_Mutation	22664561	1			no_errors	ENST00000400546	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A	A	22664561	G	A	22664561	5	1	76	1	0	0	0	0	0	0	1	0	10242	1362	47	3	637	3	NCAM2	21	22664561	Splice_Site	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09		22664561	25465334	203	20053											
HIRA	7290	genome.wustl.edu	37	chr22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-																															cgcagcactcttctggtccaGctgctgctgctgctgccttc																										TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_ENST00000541063.1_In_Frame_Del_p.Q368del|HIRA_ENST00000340170.4_In_Frame_Del_p.Q412del|HIRA_ENST00000546308.1_In_Frame_Del_p.Q368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581																																																	0																																										SO:0001651	inframe_deletion	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1235_1237delAGC	22.37:g.19373145_19373147delGCT	ENSP00000263208:p.Gln412del		Q05BU9|Q8IXN2	In_Frame_Del	DEL	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q412in_frame_del	ENST00000263208.5	37	c.1237_1235	CCDS13759.1	22																																																																																			HIRA	-	NULL	ENSG00000100084		0.581	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2		0	32	0	GCT	NM_003325		19373138	-1	tier1		no_errors	ENST00000263208	ensembl	human	known	74_37	in_frame_del	9.68	28	3	DEL	0.970:0.964:0.994	-	-	19373138	GCT	-	19373136	7	5	76	1	0	1	0	1	0	0	0	0	7147	962	34	0	1872	0	HIRA	22	19373136	In_Frame_Del	DEL	GCT	TCGA-L5-A88Z-01A-11D-A36J-09		19373136	31931430	204	20054											
PITPNB	23760	genome.wustl.edu	37	chr22	28293845	28293845	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaacaccaaggagcccTcgggagcaatcatcctcacg	13	5	9	14	2	2	1	2	1	0	0	4	3	3	3	3	2	3	1	3	2	3	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr22:28293845T>A	ENST00000335272.5	-	4	309	c.233A>T	c.(232-234)gAg>gTg	p.E78V	PITPNB_ENST00000455418.3_Missense_Mutation_p.E80V|PITPNB_ENST00000320996.10_Missense_Mutation_p.E78V	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	78					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						CAAGGAGCCCTCGGGAGCAAT	0.493																																																	0													99	86	90					22																	28293845		2203	4300	6503	SO:0001583	missense	0			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.233A>T	22.37:g.28293845T>A	ENSP00000334738:p.Glu78Val		B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.E80V	ENST00000335272.5	37	c.239	CCDS13842.1	22	.	.	.	.	.	.	.	.	.	.	T	33	5.229801	0.95173	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296;ENST00000436663	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	5.95	5.95	0.96441	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.61912	0.2385	M	0.86573	2.825	0.80722	D	1	B;B;B	0.29085	0.119;0.049;0.232	B;B;B	0.38264	0.196;0.092;0.269	T	0.65582	-0.6133	10	0.72032	D	0.01	-39.2042	15.2477	0.73517	0.0:0.0:0.0:1.0	.	80;78;78	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	V	78;78;80;5;80	ENSP00000334738:E78V;ENSP00000321266:E78V;ENSP00000405179:E80V;ENSP00000406542:E5V;ENSP00000403675:E80V	ENSP00000321266:E78V	E	-	2	0	PITPNB	26623845	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.725000	0.84808	2.279000	0.76181	0.533000	0.62120	GAG	PITPNB	-	pfam_PI_transfer	ENSG00000180957		0.493	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITPNB	HGNC	protein_coding	OTTHUMT00000320740.1	-	0	72	0	T			28293845	-1	tier1	-	no_errors	ENST00000455418	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A	A	28293845	T	A	28293845	3	1	76	1	0	0	0	0	1	0	0	0	11987	1551	54	5	614	5	PITPNB	22	28293845	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	8920709	28293845	23010721	205	20055											
RFPL3	10738	genome.wustl.edu	37	chr22	32756307	32756307	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgacctcaggagcgtcCgaagtgggctcatcacacag	10	6	12	13	3	3	1	3	1	0	0	4	4	4	2	2	2	1	1	2	2	1	0	rs374358387		TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr22:32756307C>T	ENST00000249007.4	+	2	647	c.442C>T	c.(442-444)Cga>Tga	p.R148*	RFPL3S_ENST00000400234.1_3'UTR|RFPL3_ENST00000397468.1_Nonsense_Mutation_p.R119*|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Nonsense_Mutation_p.R119*	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	148	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CAGGAGCGTCCGAAGTGGGCT	0.532																																																	0								C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	137	123	128		442,355	-0.6	0	22		128	0,8600		0,0,4300	no	stop-gained,stop-gained	RFPL3	NM_001098535.1,NM_006604.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	148/318,119/289	32756307	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.442C>T	22.37:g.32756307C>T	ENSP00000249007:p.Arg148*		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Nonsense_Mutation	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.R148*	ENST00000249007.4	37	c.442	CCDS43011.1	22	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329764	0.41297	2.27E-4	0.0	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	.	.	.	0.664	-0.629	0.11533	.	.	.	.	.	.	.	.	.	.	.	0.27586	N	0.94943	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.8667	0.13611	0.0:0.728:0.0:0.272	.	.	.	.	X	119;148;119	.	ENSP00000249007:R148X	R	+	1	2	RFPL3	31086307	0.000000	0.05858	0.010000	0.14722	0.035000	0.12851	-4.159000	0.00283	-0.224000	0.09928	0.194000	0.17425	CGA	RFPL3	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000128276		0.532	RFPL3-001	KNOWN	basic|CCDS	protein_coding	RFPL3	HGNC	protein_coding	OTTHUMT00000075172.3	-	0	139	0	C	NM_006604		32756307	1	tier1	-	no_errors	ENST00000249007	ensembl	human	known	74_37	nonsense	44.83	64	52	SNP	0.129	T	T	32756307	C	T	32756307	4	4	76	1	0	0	0	0	0	1	0	0	13300	644	23	1	448	1	RFPL3	22	32756307	Nonsense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	4462462	32756307	18548259	206	20056											
MEI1	150365	genome.wustl.edu	37	chr22	42180664	42180664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgacaaagcttttcctctgcCctggtagccctggtgccctc	5	11	9	16	1	1	0	0	0	1	0	3	1	2	0	4	2	4	2	4	2	2	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr22:42180664C>T	ENST00000401548.3	+	26	3262	c.3222C>T	c.(3220-3222)gcC>gcT	p.A1074A	MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Silent_p.A407A|MEI1_ENST00000300398.4_Silent_p.A82A	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTTCCTCTGCCCTGGTAGCCC	0.592																																																	0													37	39	39					22																	42180664		1994	4169	6163	SO:0001819	synonymous_variant	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3222C>T	22.37:g.42180664C>T				Silent	SNP	superfamily_ARM-type_fold	p.A1074	ENST00000401548.3	37	c.3222	CCDS46718.1	22																																																																																			MEI1	-	NULL	ENSG00000167077		0.592	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3		0	66	0	C	NM_152513		42180664	1			no_errors	ENST00000401548	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.990	T	T	42180664	C	T	42180664	2	4	76	1	0	0	0	0	0	0	0	1	9503	610	22	3		3	MEI1	22	42180664	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	9424357	42180664	9123902	207	20057											
TRMU	55687	genome.wustl.edu	37	chr22	46748166	46748166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtttgttttccagtatctGcagcctcgacctggtcactt	6	16	8	11	1	2	0	1	0	1	0	4	1	3	0	3	1	2	4	3	1	1	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr22:46748166G>A	ENST00000290846.4	+	7	1051	c.711G>A	c.(709-711)ctG>ctA	p.L237L	TRMU_ENST00000424260.2_3'UTR|TRMU_ENST00000381019.3_Silent_p.L237L	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	237					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TCCAGTATCTGCAGCCTCGAC	0.493																																																	0													215	214	214					22																	46748166		2203	4300	6503	SO:0001819	synonymous_variant	0			AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase "	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.711G>A	22.37:g.46748166G>A			A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase	p.L237	ENST00000290846.4	37	c.711	CCDS14075.1	22																																																																																			TRMU	-	pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase	ENSG00000100416		0.493	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMU	HGNC	protein_coding	OTTHUMT00000318042.2		0	46	0	G	NM_018006		46748166	1			no_errors	ENST00000290846	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.999	A	A	46748166	G	A	46748166	2	1	76	1	0	0	0	0	0	0	0	1	16619	1306	46	3		3	TRMU	22	46748166	Silent	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	4567502	46748166	4556400	208	20058											
TBC1D22A	25771	genome.wustl.edu	37	chr22	47193449	47193449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcagcagctcagcgcTgagcgaaagagaggcctccc	10	5	11	15	2	2	2	2	1	1	1	4	4	3	2	2	1	4	3	2	1	1	0			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chr22:47193449T>C	ENST00000337137.4	+	4	735	c.569T>C	c.(568-570)cTg>cCg	p.L190P	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L143P|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.L143P|TBC1D22A_ENST00000407381.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	190							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGCTCAGCGCTGAGCGAAAGA	0.642											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	32	34					22																	47193449		2203	4300	6503	SO:0001583	missense	0			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.569T>C	22.37:g.47193449T>C	ENSP00000336724:p.Leu190Pro	945	B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L190P	ENST00000337137.4	37	c.569	CCDS14078.1	22	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884857	0.51908	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000406733	T;T;T	0.47177	1.86;0.85;1.87	4.55	3.48	0.39840	.	0.244995	0.39210	N	0.001430	T	0.46288	0.1385	M	0.78916	2.43	0.44168	D	0.996974	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.005	T	0.35724	-0.9777	10	0.24483	T	0.36	.	10.1726	0.42920	0.0:0.0:0.168:0.832	.	190;190	B9A6M3;Q8WUA7	.;TB22A_HUMAN	P	190;143;143	ENSP00000336724:L190P;ENSP00000370383:L143P;ENSP00000385634:L143P	ENSP00000336724:L190P	L	+	2	0	TBC1D22A	45572113	1.000000	0.71417	0.003000	0.11579	0.822000	0.46500	7.019000	0.76412	0.733000	0.32492	0.363000	0.22086	CTG	TBC1D22A	-	NULL	ENSG00000054611		0.642	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22A	HGNC	protein_coding	OTTHUMT00000317600.3		0	42	0	T	NM_014346		47193449	1			no_errors	ENST00000337137	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.322	C	C	47193449	T	C	47193449	3	2	76	1	0	0	0	0	1	0	0	0	15658	1580	55	4	583	4	TBC1D22A	22	47193449	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	445283	47193449	4111117	209	20059											
GYG2	8908	genome.wustl.edu	37	chrX	2799152	2799152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaaggtgaaggaattgagCcccgaggaagagaggaggaa	16	3	18	4	1	0	4	0	2	0	2	0	11	0	8	2	5	1	0	2	5	5	1			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:2799152C>T	ENST00000381163.3	+	12	1686	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	GYG2_ENST00000338623.5_Silent_p.S432S|GYG2_ENST00000542787.1_Silent_p.S397S|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Silent_p.S437S	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	468					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGAATTGAGCCCCGAGGAAG	0.562																																																	0													142	91	108					X																	2799152		2203	4298	6501	SO:0001819	synonymous_variant	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1404C>T	X.37:g.2799152C>T			B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	pfam_Glyco_trans_8	p.S468	ENST00000381163.3	37	c.1404	CCDS14121.1	X																																																																																			GYG2	-	NULL	ENSG00000056998		0.562	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	-	0	48	0	C	NM_003918		2799152	1	tier1	-	no_errors	ENST00000381163	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.000	T	T	2799152	C	T	2799152	2	4	76	1	0	0	0	0	0	0	0	1	6933	738	26	3		3	GYG2	23	2799152	Silent	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09		2799152	152471408	210	20060											
TBL1X	6907	genome.wustl.edu	37	chrX	9665428	9665428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacaacaataatttgggatgCccacacaggagaagccaaac	17	5	9	10	0	0	1	0	0	0	1	0	4	0	2	2	2	4	0	2	2	5	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:9665428C>T	ENST00000217964.7	+	12	1713	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	TBL1X_ENST00000380961.1_Missense_Mutation_p.A307V|TBL1X_ENST00000407597.2_Missense_Mutation_p.A358V|TBL1X_ENST00000536365.1_Missense_Mutation_p.A307V|TBL1X_ENST00000424279.1_Missense_Mutation_p.A307V	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	358					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ATTTGGGATGCCCACACAGGA	0.328																																																	0													179	158	165					X																	9665428		2203	4300	6503	SO:0001583	missense	0			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"WD repeat domain containing"	11585	protein-coding gene	gene with protein product		300196	"transducin (beta)-like 1"	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1073C>T	X.37:g.9665428C>T	ENSP00000217964:p.Ala358Val		A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A358V	ENST00000217964.7	37	c.1073	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331042	0.60853	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.07	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.64483	0.2602	N	0.05259	-0.085	0.80722	D	1	P;P	0.51147	0.942;0.772	B;P	0.44897	0.348;0.463	T	0.64622	-0.6364	10	0.11794	T	0.64	.	16.0824	0.81014	0.0:1.0:0.0:0.0	.	321;358	Q59F53;O60907	.;TBL1X_HUMAN	V	358;307;307;307;358	ENSP00000385988:A358V;ENSP00000394097:A307V;ENSP00000445317:A307V;ENSP00000370348:A307V;ENSP00000217964:A358V	ENSP00000217964:A358V	A	+	2	0	TBL1X	9625428	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.922000	0.75811	1.785000	0.52413	0.544000	0.68410	GCC	TBL1X	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000101849		0.328	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	-	0	143	0	C	NM_005647		9665428	1	tier1	-	no_errors	ENST00000217964	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	9665428	C	T	9665428	3	4	76	1	0	0	0	0	1	0	0	0	15686	739	26	3	1107	3	TBL1X	23	9665428	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	6866276	9665428	145605132	211	20061											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29301302	29301302	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttccggccaacattgctAcaggacagtggtctctacgc	8	10	11	12	2	1	0	0	0	1	0	3	1	2	1	2	4	4	2	2	4	3	4			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:29301302A>T	ENST00000378993.1	+	3	1003	c.330A>T	c.(328-330)ctA>ctT	p.L110L	IL1RAPL1_ENST00000302196.4_Silent_p.L110L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	110	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAACATTGCTACAGGACAGTG	0.438																																																	0													101	86	91					X																	29301302		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.330A>T	X.37:g.29301302A>T			A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.L110	ENST00000378993.1	37	c.330	CCDS14218.1	X																																																																																			IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000169306		0.438	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	-	0	111	0	A	NM_014271		29301302	1	tier1	-	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.091	T	T	29301302	A	T	29301302	2	4	76	1	0	0	0	0	0	0	0	1	7688	378	14	5		5	IL1RAPL1	23	29301302	Silent	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	19635874	29301302	125969258	212	20062											
AWAT1	158833	genome.wustl.edu	37	chrX	69455666	69455666	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggactggaagaccccAgagcgaggtaagactcacag	12	6	12	11	1	1	3	1	0	0	3	2	6	2	5	3	3	1	1	3	3	2	2			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:69455666A>G	ENST00000374521.3	+	2	218	c.177A>G	c.(175-177)ccA>ccG	p.P59P	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	59					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGAAGACCCCAGAGCGAGGTA	0.512																																																	0													195	153	168					X																	69455666		2203	4300	6503	SO:0001819	synonymous_variant	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"diacylglycerol O-acyltransferase 2-like 3"	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.177A>G	X.37:g.69455666A>G			Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.P59	ENST00000374521.3	37	c.177	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT	ENSG00000204195		0.512	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	-	0	92	0	A	NM_001013579		69455666	1	tier1	-	no_errors	ENST00000374521	ensembl	human	known	74_37	silent	68.25	20	43	SNP	0.608	G	G	69455666	A	G	69455666	2	3	76	1	0	0	0	0	0	0	0	1	1235	175	7	4		4	AWAT1	23	69455666	Silent	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	40154364	69455666	85814894	213	20063											
ACRC	93953	genome.wustl.edu	37	chrX	70832394	70832394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggtccattatgaatgtaCtggatgcaaaacgaggtaag	15	9	11	6	1	0	1	0	1	0	0	1	3	1	2	1	3	3	3	1	3	7	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:70832394C>T	ENST00000373695.1	+	11	2477	c.1940C>T	c.(1939-1941)aCt>aTt	p.T647I	ACRC_ENST00000373696.3_Missense_Mutation_p.T647I|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	647	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TATGAATGTACTGGATGCAAA	0.448																																																	0													64	54	58					X																	70832394		2203	4300	6503	SO:0001583	missense	0			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1940C>T	X.37:g.70832394C>T	ENSP00000362799:p.Thr647Ile		B9EG62	Missense_Mutation	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.T647I	ENST00000373695.1	37	c.1940	CCDS35326.1	X	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674564	0.29693	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.45668	0.89;0.89	4.97	-1.17	0.09648	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.44664	0.1304	M	0.64567	1.98	0.09310	N	1	D	0.57257	0.979	P	0.55260	0.772	T	0.33701	-0.9858	9	0.52906	T	0.07	.	1.0406	0.01558	0.2754:0.3805:0.1328:0.2113	.	647	Q96QF7	ACRC_HUMAN	I	647	ENSP00000362800:T647I;ENSP00000362799:T647I	ENSP00000362799:T647I	T	+	2	0	ACRC	70749119	0.001000	0.12720	0.007000	0.13788	0.076000	0.17211	0.229000	0.17833	-0.237000	0.09739	0.422000	0.28245	ACT	ACRC	-	pfam_SprT-like_domain,smart_SprT-like_domain	ENSG00000147174		0.448	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	-	0	122	0	C			70832394	1	tier1	-	no_errors	ENST00000373695	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.018	T	T	70832394	C	T	70832394	3	4	76	1	0	0	0	0	1	0	0	0	171	565	20	3	1982	3	ACRC	23	70832394	Missense_Mutation	SNP	C	TCGA-L5-A88Z-01A-11D-A36J-09	1376728	70832394	84438166	214	20064											
PHKA1	5255	genome.wustl.edu	37	chrX	71856232	71856232	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtttcattctattgttGcatcctgatacagaattgag	10	16	8	7	0	2	4	1	3	1	1	3	4	3	4	1	0	2	3	1	0	3	7			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:71856232G>T	ENST00000373542.4	-	15	1623	c.1464C>A	c.(1462-1464)tgC>tgA	p.C488*	PHKA1_ENST00000541944.1_Nonsense_Mutation_p.C488*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.C488*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.C488*|PHKA1_ENST00000373545.3_Nonsense_Mutation_p.C488*	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	488					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTCTATTGTTGCATCCTGATA	0.338																																																	0													122	100	107					X																	71856232		2203	4300	6503	SO:0001587	stop_gained	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1464C>A	X.37:g.71856232G>T	ENSP00000362643:p.Cys488*		B7ZL05|B7ZL07|Q2M3D7	Nonsense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.C488*	ENST00000373542.4	37	c.1464	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.556507	0.98355	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	.	.	.	5.71	3.96	0.45880	.	0.207311	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-25.1404	7.3666	0.26776	0.2734:0.0:0.7266:0.0	.	.	.	.	X	488	.	ENSP00000342469:C488X	C	-	3	2	PHKA1	71772957	0.998000	0.40836	0.998000	0.56505	0.155000	0.21991	0.743000	0.26231	0.583000	0.29574	-0.198000	0.12761	TGC	PHKA1	-	pfam_Glyco_hydro_15	ENSG00000067177		0.338	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	-	0	55	0	G			71856232	-1	tier1	-	no_errors	ENST00000373539	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	0.993	T	T	71856232	G	T	71856232	4	4	76	1	0	0	0	0	0	1	0	0	11882	1311	46	3	2279	3	PHKA1	23	71856232	Nonsense_Mutation	SNP	G	TCGA-L5-A88Z-01A-11D-A36J-09	1023838	71856232	83414328	215	20065											
ZMAT1	84460	genome.wustl.edu	37	chrX	101153104	101153104	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcacctgaaaattctcAacatgcatcttcattttctt	11	16	2	12	0	6	1	4	1	3	0	7	1	6	1	1	0	2	1	1	0	3	5			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:101153104A>G	ENST00000372782.3	-	4	365	c.318T>C	c.(316-318)gtT>gtC	p.V106V	ZMAT1_ENST00000540921.1_Silent_p.V106V|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	106						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAAAATTCTCAACATGCATCT	0.338																																																	0													142	107	119					X																	101153104		2203	4299	6502	SO:0001819	synonymous_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"Zinc fingers, matrin-type"	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.318T>C	X.37:g.101153104A>G			Q8NDS3|Q96JN6	Silent	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.V106	ENST00000372782.3	37	c.318	CCDS35348.1	X																																																																																			ZMAT1	-	NULL	ENSG00000166432		0.338	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	-	0	133	0	A			101153104	-1	tier1	-	no_errors	ENST00000372782	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.001	G	G	101153104	A	G	101153104	2	3	76	1	0	0	0	0	0	0	0	1	17739	117	5	4		4	ZMAT1	23	101153104	Silent	SNP	A	TCGA-L5-A88Z-01A-11D-A36J-09	29296872	101153104	54117456	216	20066											
L1CAM	3897	genome.wustl.edu	37	chrX	153132169	153132169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggctgttgacggccTggactttgatctcatagggc	5	12	13	11	1	1	2	1	2	1	0	2	3	1	3	2	4	1	2	2	4	1	3			TCGA-L5-A88Z-01A-11D-A36J-09	TCGA-L5-A88Z-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	780573c9-1514-4b9c-b31f-c0c0df3b7b45	247edf65-6355-4962-9ea6-79b9a0d04711	g.chrX:153132169T>C	ENST00000370060.1	-	19	2555	c.2366A>G	c.(2365-2367)cAg>cGg	p.Q789R	L1CAM_ENST00000370057.3_Missense_Mutation_p.Q789R|L1CAM_ENST00000538883.1_Missense_Mutation_p.Q791R|L1CAM_ENST00000361699.4_Missense_Mutation_p.Q789R|L1CAM_ENST00000361981.3_Missense_Mutation_p.Q784R|L1CAM_ENST00000543994.1_Missense_Mutation_p.Q791R|L1CAM_ENST00000370055.1_Missense_Mutation_p.Q784R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	789	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTTGACGGCCTGGACTTTGAT	0.627																																																	0													122	97	106					X																	153132169		2203	4300	6503	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2366A>G	X.37:g.153132169T>C	ENSP00000359077:p.Gln789Arg		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q791R	ENST00000370060.1	37	c.2372	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	T	26.1	4.705258	0.89018	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000020	T	0.70535	0.3235	M	0.74389	2.26	0.80722	D	1	D;P;D	0.56287	0.968;0.76;0.975	D;B;D	0.69142	0.936;0.381;0.962	T	0.73442	-0.3981	10	0.56958	D	0.05	.	13.2172	0.59867	0.0:0.0:0.0:1.0	.	784;789;789	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	R	789;791;789;791;784;784;789	ENSP00000359077:Q789R;ENSP00000438430:Q791R;ENSP00000359074:Q789R;ENSP00000439645:Q791R;ENSP00000354712:Q784R;ENSP00000359072:Q784R;ENSP00000355380:Q789R	ENSP00000355380:Q789R	Q	-	2	0	L1CAM	152785363	1.000000	0.71417	0.983000	0.44433	0.663000	0.39108	4.892000	0.63193	1.762000	0.52044	0.430000	0.28490	CAG	L1CAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000198910		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0	139	0	T	NM_024003		153132169	-1	tier1	-	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	C	C	153132169	T	C	153132169	3	2	76	1	0	0	0	0	1	0	0	0	8616	1580	55	4	1451	4	L1CAM	23	153132169	Missense_Mutation	SNP	T	TCGA-L5-A88Z-01A-11D-A36J-09	51979065	153132169	2138391	217	20067											
AJAP1	55966	genome.wustl.edu	37	chr1	4832541	4832541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtacaccgatgagacgctGcactcgacgacgggggagta	10	6	15	10	5	0	1	0	1	0	1	1	6	0	2	1	2	2	4	1	2	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:4832541G>A	ENST00000378191.4	+	4	1500	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	AJAP1_ENST00000378190.3_Silent_p.L373L	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	373	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATGAGACGCTGCACTCGACGA	0.572																																																	0													59	56	57					1																	4832541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1119G>A	1.37:g.4832541G>A			Q9Y229	Silent	SNP	NULL	p.L373	ENST00000378191.4	37	c.1119	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.572	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3		0	43	0	G	NM_018836		4832541	1			no_errors	ENST00000378190	ensembl	human	known	74_37	silent	6.00	47	3	SNP	1.000	A	A	4832541	G	A	4832541	2	1	77	1	0	0	0	0	0	0	0	1	438	1306	46	3		3	AJAP1	1	4832541	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		4832541	244418080	1	20068											
TNFRSF25	8718	genome.wustl.edu	37	chr1	6522067	6522067	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttaccaagagctctgctGggcaactggtcccaggacca	9	7	10	15	0	1	1	0	0	1	1	2	2	2	2	4	3	4	3	4	3	3	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:6522067G>T	ENST00000356876.3	-	9	999	c.912C>A	c.(910-912)ccC>ccA	p.P304P	TNFRSF25_ENST00000377782.3_Silent_p.P313P|TNFRSF25_ENST00000351748.3_Silent_p.P121P|TNFRSF25_ENST00000351959.5_Silent_p.P267P|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000348333.3_Silent_p.P259P	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	304					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GAGCTCTGCTGGGCAACTGGT	0.607																																																	0													75	72	73					1																	6522067		2203	4300	6503	SO:0001819	synonymous_variant	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"Tumor necrosis factor receptor superfamily"	11910	protein-coding gene	gene with protein product		603366	"tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.912C>A	1.37:g.6522067G>T			B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.P313	ENST00000356876.3	37	c.939	CCDS71.1	1																																																																																			TNFRSF25	-	prints_TNFR_25	ENSG00000215788		0.607	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1		0	41	0	G	NM_148965		6522067	-1			no_errors	ENST00000377782	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.747	T	T	6522067	G	T	6522067	2	4	77	1	0	0	0	0	0	0	0	1	16343	1335	47	3		3	TNFRSF25	1	6522067	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1689526	6522067	242728554	2	20069											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6531119	6531119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccatgcagccctcctcCtccatgcagtagcggatgta	8	10	8	15	1	0	0	0	0	0	0	4	1	4	1	5	1	5	4	5	1	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:6531119C>A	ENST00000400915.3	-	14	1557	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E518D|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.E518D|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E478D|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E520D|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E441D|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E441D|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E441D|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E441D|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E441D|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E441D|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E510D	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	497	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCTCCTCCTCCATGCAGT	0.711																																																	0													25	23	23					1																	6531119		2201	4295	6496	SO:0001583	missense	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1491G>T	1.37:g.6531119C>A	ENSP00000383706:p.Glu497Asp		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E520D	ENST00000400915.3	37	c.1560	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110693	0.77210	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.11	0.976	0.19727	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	L	0.49350	1.555	0.52501	D	0.999954	P;D;P;D;D	0.89917	0.533;1.0;0.771;1.0;1.0	B;D;P;D;D	0.91635	0.434;0.998;0.667;0.998;0.999	T	0.65853	-0.6067	10	0.22706	T	0.39	-28.5397	9.5959	0.39573	0.0:0.6914:0.0:0.3086	.	510;441;518;518;497	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	D	518;441;441;497;518;478;441;441;510;441;347;520;441	ENSP00000366977:E518D;ENSP00000344570:E441D;ENSP00000383704:E441D;ENSP00000383706:E497D;ENSP00000366969:E518D;ENSP00000366961:E478D;ENSP00000366957:E441D;ENSP00000366954:E441D;ENSP00000441445:E510D;ENSP00000366966:E441D;ENSP00000439625:E520D;ENSP00000437710:E441D	ENSP00000344570:E441D	E	-	3	2	PLEKHG5	6453706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.724000	0.38064	0.519000	0.28406	0.462000	0.41574	GAG	PLEKHG5	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000171680		0.711	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1		0	24	0	C	NM_020631		6531119	-1			no_errors	ENST00000537245	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	A	A	6531119	C	A	6531119	3	1	77	1	0	0	0	0	1	0	0	0	12112	680	24	3	1733	3	PLEKHG5	1	6531119	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	9052	6531119	242719502	3	20070											
PHF13	148479	genome.wustl.edu	37	chr1	6680031	6680031	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagcgagccaagcccAgtaacttcctgctggacaga	10	8	10	13	1	1	1	0	0	1	1	2	3	2	2	3	1	6	3	3	1	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:6680031A>G	ENST00000377648.4	+	3	692	c.310A>G	c.(310-312)Agt>Ggt	p.S104G	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	104					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCAAGCCCAGTAACTTCCT	0.572																																																	0													46	49	48					1																	6680031		2203	4300	6503	SO:0001583	missense	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.310A>G	1.37:g.6680031A>G	ENSP00000366876:p.Ser104Gly		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.S104G	ENST00000377648.4	37	c.310	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.270950	0.40194	.	.	ENSG00000116273	ENST00000377648	T	0.49432	0.78	5.47	5.47	0.80525	.	0.248012	0.46758	D	0.000266	T	0.33702	0.0872	L	0.28115	0.83	0.39075	D	0.96078	B	0.15930	0.015	B	0.14023	0.01	T	0.19484	-1.0304	10	0.28530	T	0.3	-0.0417	10.7709	0.46321	0.9235:0.0:0.0765:0.0	.	104	Q86YI8	PHF13_HUMAN	G	104	ENSP00000366876:S104G	ENSP00000366876:S104G	S	+	1	0	PHF13	6602618	0.945000	0.32115	0.986000	0.45419	0.939000	0.58152	1.534000	0.36051	2.071000	0.62044	0.459000	0.35465	AGT	PHF13	-	NULL	ENSG00000116273		0.572	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	-	0	48	0	A	NM_153812		6680031	1	tier1	-	no_errors	ENST00000377648	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	6680031	A	G	6680031	3	3	77	1	0	0	0	0	1	0	0	0	11863	188	7	4	320	4	PHF13	1	6680031	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	148912	6680031	242570590	4	20071											
TMEM201	199953	genome.wustl.edu	37	chr1	9658561	9658561	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctggagcagatgtacAagctgtgccggccgtgccaa	10	7	12	12	2	1	1	1	0	0	1	1	2	1	2	4	2	5	3	4	2	3	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:9658561A>C	ENST00000340381.6	+	4	493	c.484A>C	c.(484-486)Aag>Cag	p.K162Q	TMEM201_ENST00000340305.5_Missense_Mutation_p.K162Q|TMEM201_ENST00000377376.4_Missense_Mutation_p.K162Q	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	162					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGATGTACAAGCTGTGCCG	0.632																																																	0													85	76	79					1																	9658561		2203	4300	6503	SO:0001583	missense	0				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.484A>C	1.37:g.9658561A>C	ENSP00000344503:p.Lys162Gln		B9EH90|Q5SNT3	Missense_Mutation	SNP	pfam_DUF2448,pfam_Ima1_N	p.K162Q	ENST00000340381.6	37	c.484	CCDS44055.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.323549|4.323549	0.81580|0.81580	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381|ENST00000416541	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60663|0.60663	0.2286|0.2286	L|L	0.45581|0.45581	1.43|1.43	0.46823|0.46823	D|D	0.999215|0.999215	D;P|.	0.89917|.	1.0;0.741|.	D;P|.	0.97110|.	1.0;0.692|.	T|T	0.58429|0.58429	-0.7638|-0.7638	9|5	0.44086|.	T|.	0.13|.	-33.9997|-33.9997	13.1714|13.1714	0.59599|0.59599	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	162;162|.	E9PBR6;Q5SNT2-2|.	.;.|.	Q|P	162|71	.|.	ENSP00000344772:K162Q|.	K|Q	+|+	1|2	0|0	TMEM201|TMEM201	9581148|9581148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.604000|8.604000	0.90877|0.90877	2.052000|2.052000	0.61016|0.61016	0.459000|0.459000	0.35465|0.35465	AAG|CAA	TMEM201	-	pfam_Ima1_N	ENSG00000188807		0.632	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	HGNC	protein_coding	OTTHUMT00000127672.1	-	0	117	0	A	NM_001010866		9658561	1	tier1	-	no_errors	ENST00000340381	ensembl	human	known	74_37	missense	23.30	79	24	SNP	1.000	C	C	9658561	A	C	9658561	3	2	77	1	0	0	0	0	1	0	0	0	16173	131	5	4	498	4	TMEM201	1	9658561	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	2978530	9658561	239592060	5	20072											
PIK3CD	5293	genome.wustl.edu	37	chr1	9778916	9778916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtctctgctttgcgctgtaCgccgtgatcgagaaagccaa	8	10	11	12	5	1	2	0	1	1	1	3	3	1	2	2	0	4	3	2	0	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:9778916C>T	ENST00000377346.4	+	9	1380	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y	PIK3CD_ENST00000536656.1_Silent_p.Y360Y|PIK3CD_ENST00000543390.1_Silent_p.Y62Y|PIK3CD_ENST00000361110.2_Silent_p.Y360Y	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	395	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TTGCGCTGTACGCCGTGATCG	0.642																																																	0													85	75	78					1																	9778916		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1185C>T	1.37:g.9778916C>T			A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Y360	ENST00000377346.4	37	c.1080	CCDS104.1	1																																																																																			PIK3CD	-	pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000171608		0.642	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0	81	0	C	NM_005026		9778916	1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	silent	5.31	107	6	SNP	0.982	T	T	9778916	C	T	9778916	2	4	77	1	0	0	0	0	0	0	0	1	11954	547	19	1		1	PIK3CD	1	9778916	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	120355	9778916	239471705	6	20073											
MTOR	2475	genome.wustl.edu	37	chr1	11291476	11291476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggccaccaactgtcccaGggtccacagagccacctgga	9	5	11	16	0	0	1	0	0	0	1	2	2	2	2	6	3	2	1	6	3	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:11291476G>T	ENST00000361445.4	-	17	2606	c.2530C>A	c.(2530-2532)Ctg>Atg	p.L844M		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	844					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AACTGTCCCAGGGTCCACAGA	0.453																																																	0													94	88	90					1																	11291476		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2530C>A	1.37:g.11291476G>T	ENSP00000354558:p.Leu844Met		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L844M	ENST00000361445.4	37	c.2530	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522270	0.44866	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.77098	-1.07	5.84	3.98	0.46160	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.68979	0.3060	L	0.53617	1.68	0.80722	D	1	P	0.34977	0.478	B	0.27608	0.081	T	0.68217	-0.5467	10	0.66056	D	0.02	0.2073	9.6685	0.39998	0.2103:0.0:0.7897:0.0	.	844	P42345	MTOR_HUMAN	M	844	ENSP00000354558:L844M	ENSP00000354558:L844M	L	-	1	2	MTOR	11214063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.200000	0.51051	0.824000	0.34613	0.655000	0.94253	CTG	MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.453	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	67	0	G	NM_004958		11291476	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	11291476	G	T	11291476	3	4	77	1	0	0	0	0	1	0	0	0	9992	991	35	3	5287	3	MTOR	1	11291476	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1512560	11291476	237959145	7	20074											
TAS1R2	80834	genome.wustl.edu	37	chr1	19180780	19180780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgcagggcatgggccAcagcatagaccgcagagtac	10	5	15	11	1	0	2	0	0	0	2	0	2	0	2	2	3	3	6	2	3	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:19180780A>G	ENST00000375371.3	-	3	1205	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	395					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGCATGGGCCACAGCATAGAC	0.602																																																	0													96	85	88					1																	19180780		2203	4300	6503	SO:0001583	missense	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1184T>C	1.37:g.19180780A>G	ENSP00000364520:p.Val395Ala		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.V395A	ENST00000375371.3	37	c.1184	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	A	13.90	2.373918	0.42105	.	.	ENSG00000179002	ENST00000375371	D	0.83506	-1.73	4.41	3.27	0.37495	Extracellular ligand-binding receptor (1);	0.000000	0.36555	N	0.002531	D	0.86209	0.5878	L	0.52905	1.665	0.40582	D	0.981401	D	0.67145	0.996	D	0.67548	0.952	D	0.85379	0.1118	10	0.66056	D	0.02	.	8.1188	0.30959	0.9015:0.0:0.0985:0.0	.	395	Q8TE23	TS1R2_HUMAN	A	395	ENSP00000364520:V395A	ENSP00000364520:V395A	V	-	2	0	TAS1R2	19053367	1.000000	0.71417	0.999000	0.59377	0.114000	0.19823	8.502000	0.90505	0.724000	0.32296	0.379000	0.24179	GTG	TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.602	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	-	0	32	0	A			19180780	-1	tier1	-	no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	7.58	61	5	SNP	0.998	G	G	19180780	A	G	19180780	3	3	77	1	0	0	0	0	1	0	0	0	15610	159	6	4	1351	4	TAS1R2	1	19180780	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	7889304	19180780	230069841	8	20075											
LUZP1	7798	genome.wustl.edu	37	chr1	23415507	23415507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagggagttgtgcagttGcctgtagacactgagtgtac	9	11	13	8	0	0	2	0	1	0	1	1	3	1	3	2	1	3	5	2	1	2	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:23415507G>T	ENST00000302291.4	-	5	3913	c.3112C>A	c.(3112-3114)Caa>Aaa	p.Q1038K	LUZP1_ENST00000418342.1_Missense_Mutation_p.Q1038K|RP1-184J9.2_ENST00000427154.1_RNA|LUZP1_ENST00000374623.3_Missense_Mutation_p.Q1038K			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1038					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGTGCAGTTGCCTGTAGACA	0.562																																																	0													123	114	117					1																	23415507		2203	4300	6503	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.3112C>A	1.37:g.23415507G>T	ENSP00000303758:p.Gln1038Lys		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.Q1038K	ENST00000302291.4	37	c.3112	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	4.038	0.004560	0.07866	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291	T;T;T	0.10477	2.87;2.87;2.87	5.53	4.6	0.57074	.	0.387393	0.19134	N	0.121848	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.13407	0.009	T	0.37888	-0.9686	10	0.06494	T	0.89	.	10.8203	0.46601	0.0911:0.0:0.9089:0.0	.	1038	Q86V48	LUZP1_HUMAN	K	1038	ENSP00000393460:Q1038K;ENSP00000363752:Q1038K;ENSP00000303758:Q1038K	ENSP00000303758:Q1038K	Q	-	1	0	LUZP1	23288094	0.052000	0.20516	0.194000	0.23346	0.196000	0.23810	2.779000	0.47734	2.769000	0.95229	0.655000	0.94253	CAA	LUZP1	-	NULL	ENSG00000169641		0.562	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	-	0	57	0	G	NM_033631		23415507	-1	tier1	-	no_errors	ENST00000302291	ensembl	human	known	74_37	missense	10.26	34	4	SNP	0.048	T	T	23415507	G	T	23415507	3	4	77	1	0	0	0	0	1	0	0	0	9121	1328	46	3	122	3	LUZP1	1	23415507	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	4234727	23415507	225835114	9	20076											
GPATCH3	63906	genome.wustl.edu	37	chr1	27226872	27226872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccgagcgcaacacggagGggataccgctcactaccagg	10	3	15	13	4	1	0	1	0	0	0	1	3	1	2	3	5	4	2	3	5	3	2	rs148620476		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:27226872G>T	ENST00000361720.5	-	1	85	c.62C>A	c.(61-63)cCc>cAc	p.P21H		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	21							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CAACACGGAGGGGATACCGCT	0.597																																																	0								G	HIS/PRO	0,4406		0,0,2203	41	40	41		62	5.5	1	1	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPATCH3	NM_022078.2	77	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	21/526	27226872	1,13005	2203	4300	6503	SO:0001583	missense	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.62C>A	1.37:g.27226872G>T	ENSP00000354645:p.Pro21His		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.P21H	ENST00000361720.5	37	c.62	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990959	0.74703	0.0	1.16E-4	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.66815	-0.23	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.81973	0.4936	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83253	-0.0052	10	0.87932	D	0	-19.4217	17.3578	0.87341	0.0:0.0:1.0:0.0	.	21	Q96I76	GPTC3_HUMAN	H	21	ENSP00000354645:P21H	ENSP00000354645:P21H	P	-	2	0	GPATCH3	27099459	1.000000	0.71417	0.952000	0.39060	0.161000	0.22273	7.681000	0.84073	2.854000	0.98071	0.655000	0.94253	CCC	GPATCH3	-	NULL	ENSG00000198746		0.597	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	-	0	90	0	G	NM_022078		27226872	-1	tier1	rs148620476	no_errors	ENST00000361720	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	T	T	27226872	G	T	27226872	3	4	77	1	0	0	0	0	1	0	0	0	6618	1232	43	3	1543	3	GPATCH3	1	27226872	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	3811365	27226872	222023749	10	20077											
NT5C1A	84618	genome.wustl.edu	37	chr1	40129067	40129067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaggtagcagatcgggCtgttcccacctgtcatgcag	7	10	12	12	1	1	2	1	1	0	1	3	2	2	2	3	2	2	5	3	2	1	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:40129067C>T	ENST00000235628.1	-	4	472	c.473G>A	c.(472-474)aGc>aAc	p.S158N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	158					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCAGATCGGGCTGTTCCCACC	0.542																																																	0													127	112	117					1																	40129067		2203	4300	6503	SO:0001583	missense	0			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"cytosolic 5' nucleotidase, type 1A", "AMP-specific 5'-NT", "cytosolic 5'-nucleotidase IA"	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.473G>A	1.37:g.40129067C>T	ENSP00000235628:p.Ser158Asn		Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	pfam_5-nucleotidase	p.S158N	ENST00000235628.1	37	c.473	CCDS440.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.092647	0.94149	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	M	0.84082	2.675	0.80722	D	1	P	0.44344	0.833	P	0.49085	0.6	T	0.75830	-0.3179	9	0.40728	T	0.16	-1.4557	19.2534	0.93935	0.0:1.0:0.0:0.0	.	158	Q9BXI3	5NT1A_HUMAN	N	158	.	ENSP00000235628:S158N	S	-	2	0	NT5C1A	39901654	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.630000	0.89119	0.655000	0.94253	AGC	NT5C1A	-	pfam_5-nucleotidase	ENSG00000116981		0.542	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C1A	HGNC	protein_coding	OTTHUMT00000025626.1	-	0	100	0	C	NM_032526		40129067	-1	tier1	-	no_errors	ENST00000235628	ensembl	human	known	74_37	missense	19.83	93	23	SNP	1.000	T	T	40129067	C	T	40129067	3	4	77	1	0	0	0	0	1	0	0	0	10724	797	28	3	645	3	NT5C1A	1	40129067	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	12902195	40129067	209121554	11	20078											
ZMYND12	84217	genome.wustl.edu	37	chr1	42900953	42900953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccacttacccaagccaGtgtcattctcaaatagtttg	11	12	6	12	0	2	0	2	0	1	0	3	0	2	0	3	0	3	1	3	0	4	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:42900953G>T	ENST00000372565.3	-	6	1090	c.821C>A	c.(820-822)aCt>aAt	p.T274N	ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Missense_Mutation_p.T164N	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	274						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCCAAGCCAGTGTCATTCTC	0.463																																																	0													222	203	210					1																	42900953		2203	4300	6503	SO:0001583	missense	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.821C>A	1.37:g.42900953G>T	ENSP00000361646:p.Thr274Asn		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.T274N	ENST00000372565.3	37	c.821	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854642	0.51376	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.50813	0.73;0.89	5.05	5.05	0.67936	.	0.356445	0.30126	N	0.010346	T	0.35248	0.0925	L	0.42245	1.32	0.38283	D	0.942483	B;P	0.36599	0.124;0.56	B;B	0.28638	0.064;0.092	T	0.24657	-1.0154	10	0.18276	T	0.48	-18.8565	14.0942	0.65010	0.0:0.0:1.0:0.0	.	164;274	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	N	274;164	ENSP00000361646:T274N;ENSP00000398340:T164N	ENSP00000361646:T274N	T	-	2	0	ZMYND12	42673540	0.998000	0.40836	1.000000	0.80357	0.682000	0.39822	4.177000	0.58276	2.789000	0.95967	0.655000	0.94253	ACT	ZMYND12	-	NULL	ENSG00000066185		0.463	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	-	0	79	0	G	NM_032257		42900953	-1	tier1	-	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	42900953	G	T	42900953	3	4	77	1	0	0	0	0	1	0	0	0	17755	1029	36	3	288	3	ZMYND12	1	42900953	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2771886	42900953	206349668	12	20079											
LEPRE1	64175	genome.wustl.edu	37	chr1	43212460	43212460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccaggggctgctcctGggagaggtccatctcttctg	5	10	14	12	0	2	1	0	0	2	1	6	2	5	1	3	5	1	3	3	5	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:43212460G>T	ENST00000296388.5	-	15	2170	c.2119C>A	c.(2119-2121)Cag>Aag	p.Q707K	LEPRE1_ENST00000236040.4_3'UTR|LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_3'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	707					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCTGCTCCTGGGAGAGGTCC	0.597																																																	0													56	67	63					1																	43212460		692	1591	2283	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"prolyl 3-hydroxylase 1", "growth suppressor 1"	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.2119C>A	1.37:g.43212460G>T	ENSP00000296388:p.Gln707Lys		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.Q707K	ENST00000296388.5	37	c.2119	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926444	0.34002	.	.	ENSG00000117385	ENST00000296388;ENST00000540027	T	0.31769	1.48	5.12	3.14	0.36123	.	.	.	.	.	T	0.18759	0.0450	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.05022	-1.0911	9	0.27785	T	0.31	.	10.5472	0.45066	0.0:0.0:0.6514:0.3486	.	707	Q32P28	P3H1_HUMAN	K	707;572	ENSP00000296388:Q707K	ENSP00000296388:Q707K	Q	-	1	0	LEPRE1	42985047	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.287000	0.33284	1.376000	0.46267	0.655000	0.94253	CAG	LEPRE1	-	NULL	ENSG00000117385		0.597	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2		0	58	0	G	NM_022356		43212460	-1			no_errors	ENST00000296388	ensembl	human	known	74_37	missense	5.13	72	4	SNP	1.000	T	T	43212460	G	T	43212460	3	4	77	1	0	0	0	0	1	0	0	0	8757	1357	47	3	95	3	LEPRE1	1	43212460	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	311507	43212460	206038161	13	20080											
OMA1	115209	genome.wustl.edu	37	chr1	59002262	59002262	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttgctccttcctgtgattgGacttacttccaggtgagtaa	7	15	9	10	0	0	2	0	2	0	0	3	3	3	3	3	2	2	2	3	2	2	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:59002262G>C	ENST00000371226.3	-	3	765	c.652C>G	c.(652-654)Cca>Gca	p.P218A	OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Missense_Mutation_p.P218A|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	218					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CCTGTGATTGGACTTACTTCC	0.348																																																	0													77	78	77					1																	59002262		2203	4300	6503	SO:0001583	missense	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.652C>G	1.37:g.59002262G>C	ENSP00000360270:p.Pro218Ala		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	pfam_Peptidase_M48	p.P218A	ENST00000371226.3	37	c.652	CCDS608.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	24.2|24.2	4.510119|4.510119	0.85282|0.85282	.|.	.|.	ENSG00000162600|ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139|ENST00000421528	T;T;T;D;D|T	0.81996|0.23552	0.81;0.82;-0.26;-1.56;-1.51|1.9	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47377|0.47377	0.1442|0.1442	M|M	0.63843|0.63843	1.955|1.955	0.53688|0.53688	D|D	0.999979|0.999979	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.77557|.	0.986;0.99|.	T|T	0.31110|0.31110	-0.9955|-0.9955	10|7	0.56958|0.59425	D|D	0.05|0.04	-15.2931|-15.2931	19.5951|19.5951	0.95533|0.95533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	218;218|.	Q96E52;Q96E52-2|.	OMA1_HUMAN;.|.	A|C	218|59	ENSP00000351417:P218A;ENSP00000360270:P218A;ENSP00000395053:P218A;ENSP00000409589:P218A;ENSP00000416495:P218A|ENSP00000391941:S59C	ENSP00000351417:P218A|ENSP00000391941:S59C	P|S	-|-	1|2	0|0	OMA1|OMA1	58774850|58774850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.685000|7.685000	0.84117|0.84117	2.865000|2.865000	0.98341|0.98341	0.552000|0.552000	0.68991|0.68991	CCA|TCC	OMA1	-	NULL	ENSG00000162600		0.348	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0	88	0	G	NM_145243		59002262	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	missense	17.44	69	15	SNP	1.000	C	C	59002262	G	C	59002262	3	2	77	1	0	0	0	0	1	0	0	0	10903	1174	41	5	950	5	OMA1	1	59002262	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	15789802	59002262	190248359	14	20081											
TNNI3K	100526835	genome.wustl.edu	37	chr1	74808621	74808621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctgctgcaaagtgatttgGaagttcaacctcatgttgtt	10	15	9	7	0	3	1	2	1	1	0	3	2	3	2	1	1	3	5	1	1	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:74808621G>C	ENST00000370899.3	+	10	1118	c.1081G>C	c.(1081-1083)Gaa>Caa	p.E361Q	TNNI3K_ENST00000326637.3_Missense_Mutation_p.E260Q|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.E374Q|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E361Q|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.E361Q	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AAGTGATTTGGAAGTTCAACC	0.393																																																	0													204	185	192					1																	74808621		2203	4300	6503	SO:0001583	missense	0					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1081G>C	1.37:g.74808621G>C	ENSP00000359936:p.Glu361Gln			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E374Q	ENST00000370899.3	37	c.1120		1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711495	0.30322	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.64991	-0.13;-0.13;2.28;2.28;-0.13	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.112927	0.64402	D	0.000007	T	0.42743	0.1216	L	0.39020	1.185	0.47737	D	0.999507	B;B;B;P	0.45827	0.023;0.053;0.053;0.867	B;B;B;B	0.39027	0.012;0.015;0.013;0.288	T	0.35425	-0.9789	10	0.27082	T	0.32	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	260;361;361;361	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	Q	361;361;361;361;260	ENSP00000359936:E361Q;ENSP00000359932:E361Q;ENSP00000450895:E361Q;ENSP00000359928:E361Q;ENSP00000322251:E260Q	ENSP00000322251:E260Q	E	+	1	0	RP11-653A5.2;AC093158.1	74581209	1.000000	0.71417	0.933000	0.37362	0.022000	0.10575	9.343000	0.97047	2.745000	0.94114	0.650000	0.86243	GAA	FPGT-TNNI3K	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000259030		0.393	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	FPGT-TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	-	0	78	0	G			74808621	1	tier1	-	no_errors	ENST00000557284	ensembl	human	known	74_37	missense	40.30	40	27	SNP	1.000	C	C	74808621	G	C	74808621	3	2	77	1	0	0	0	0	1	0	0	0	16376	1175	41	5	1163	5	TNNI3K	1	74808621	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	15806359	74808621	174442000	15	20082											
FAM73A	374986	genome.wustl.edu	37	chr1	78325008	78325008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattacatagaactgaaatGttggagtgcctaggagacag	14	11	11	5	0	0	3	0	1	0	2	0	5	0	4	1	2	3	1	1	2	6	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:78325008G>A	ENST00000370791.3	+	10	1157	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	FAM73A_ENST00000443751.2_Missense_Mutation_p.M337I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	375						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAACTGAAATGTTGGAGTGCC	0.378																																																	0													134	130	131					1																	78325008		2203	4300	6503	SO:0001583	missense	0				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1125G>A	1.37:g.78325008G>A	ENSP00000359827:p.Met375Ile		Q6MZG0	Missense_Mutation	SNP	pfam_DUF2217	p.M375I	ENST00000370791.3	37	c.1125	CCDS681.1	1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.467738	0.43839	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.24538	1.85;1.85	5.19	4.28	0.50868	.	0.286036	0.41605	D	0.000841	T	0.16599	0.0399	M	0.76002	2.32	0.52099	D	0.99994	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.10450	0.002;0.005;0.005	T	0.06058	-1.0848	10	0.54805	T	0.06	-13.0364	11.0429	0.47842	0.1506:0.0:0.8494:0.0	.	337;375;375	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	I	375;337	ENSP00000359827:M375I;ENSP00000393675:M337I	ENSP00000359827:M375I	M	+	3	0	FAM73A	78097596	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	3.480000	0.53172	1.326000	0.45319	0.655000	0.94253	ATG	FAM73A	-	pfam_DUF2217	ENSG00000180488		0.378	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	-	0	105	0	G	NM_198549		78325008	1	tier1	-	no_errors	ENST00000370791	ensembl	human	known	74_37	missense	8.26	100	9	SNP	1.000	A	A	78325008	G	A	78325008	3	1	77	1	0	0	0	0	1	0	0	0	5639	1377	48	3	1163	3	FAM73A	1	78325008	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	3516387	78325008	170925613	16	20083											
SYCP1	6847	genome.wustl.edu	37	chr1	115438067	115438067	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttttttttgctcattttAgaagagatgactaagcttac	11	19	6	5	0	1	3	1	1	0	2	1	4	1	3	0	0	3	2	0	0	4	9			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:115438067A>G	ENST00000369522.3	+	16	1498		c.e16-1		SYCP1_ENST00000369518.1_Splice_Site	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTCATTTTAGAAGAGATGA	0.294																																																	0													23	22	22					1																	115438067		2150	4252	6402	SO:0001630	splice_region_variant	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1259-1A>G	1.37:g.115438067A>G			O14963|Q5VXJ6	Splice_Site	SNP	-	e15-2	ENST00000369522.3	37	c.1259-2	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608792	0.66558	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2629	0.49093	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYCP1	115239590	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.552000	0.60747	1.983000	0.57843	0.528000	0.53228	.	SYCP1	-	-	ENSG00000198765		0.294	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	-	0	85	0	A	NM_003176	Intron	115438067	1	tier1	-	no_errors	ENST00000369518	ensembl	human	known	74_37	splice_site	5.26	72	4	SNP	1.000	G	G	115438067	A	G	115438067	5	3	77	1	0	0	0	0	0	0	1	0	15478	434	15	4	1315	4	SYCP1	1	115438067	Splice_Site	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	37113059	115438067	133812554	17	20084											
SV2A	9900	genome.wustl.edu	37	chr1	149882465	149882465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagctcaaatgctcccCtcgtttctcctgggccagaa	8	9	9	15	1	2	1	1	0	1	1	5	2	3	1	5	1	3	3	5	1	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:149882465C>G	ENST00000369146.3	-	4	1358	c.868G>C	c.(868-870)Ggg>Cgg	p.G290R	SV2A_ENST00000369145.1_Missense_Mutation_p.G290R	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	290					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AAATGCTCCCCTCGTTTCTCC	0.527																																																	0													61	59	59					1																	149882465		2203	4300	6503	SO:0001583	missense	0			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.868G>C	1.37:g.149882465C>G	ENSP00000358142:p.Gly290Arg		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.G290R	ENST00000369146.3	37	c.868	CCDS940.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928184	0.92389	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	D;D	0.81739	-1.53;-1.53	4.99	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91603	0.7347	H	0.96970	3.915	0.80722	D	1	D	0.56287	0.975	P	0.61940	0.896	D	0.93763	0.7068	10	0.72032	D	0.01	-22.4325	15.8174	0.78615	0.0:1.0:0.0:0.0	.	290	Q7L0J3	SV2A_HUMAN	R	290	ENSP00000358142:G290R;ENSP00000358141:G290R	ENSP00000358141:G290R	G	-	1	0	SV2A	148149089	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.651000	0.83577	2.591000	0.87537	0.585000	0.79938	GGG	SV2A	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000159164		0.527	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	HGNC	protein_coding	OTTHUMT00000033754.1		0	61	0	C			149882465	-1			no_errors	ENST00000369146	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	G	G	149882465	C	G	149882465	3	3	77	1	0	0	0	0	1	0	0	0	15464	681	24	5	1400	5	SV2A	1	149882465	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	34444398	149882465	99368156	18	20085											
TCHHL1	126637	genome.wustl.edu	37	chr1	152058266	152058266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttgattcttgtgttctCctctggcaggctgttcctgg	2	16	12	11	0	3	1	0	1	3	0	5	1	4	1	3	4	0	4	3	4	0	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:152058266C>A	ENST00000368806.1	-	3	1956	c.1892G>T	c.(1891-1893)gGa>gTa	p.G631V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	631							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGTGTTCTCCTCTGGCAGG	0.552																																																	0													127	117	120					1																	152058266		2203	4300	6503	SO:0001583	missense	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1892G>T	1.37:g.152058266C>A	ENSP00000357796:p.Gly631Val		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.G631V	ENST00000368806.1	37	c.1892	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.272225	0.23221	.	.	ENSG00000182898	ENST00000368806	T	0.23950	1.88	5.08	-5.23	0.02798	.	.	.	.	.	T	0.03136	0.0092	N	0.08118	0	0.09310	N	0.999996	B	0.14012	0.009	B	0.14023	0.01	T	0.43798	-0.9369	9	0.31617	T	0.26	2.9726	7.4237	0.27085	0.1437:0.5543:0.0:0.302	.	631	Q5QJ38	TCHL1_HUMAN	V	631	ENSP00000357796:G631V	ENSP00000357796:G631V	G	-	2	0	TCHHL1	150324890	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.816000	0.04477	-0.823000	0.04301	-1.105000	0.02106	GGA	TCHHL1	-	NULL	ENSG00000182898		0.552	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	-	0	77	0	C	XM_060104		152058266	-1	tier1	-	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.000	A	A	152058266	C	A	152058266	3	1	77	1	0	0	0	0	1	0	0	0	15748	855	30	3	826	3	TCHHL1	1	152058266	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2175801	152058266	97192355	19	20086											
LCE2C	353140	genome.wustl.edu	37	chr1	152648708	152648708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctggtggctgctccCtgagccaccacaggccccgt	4	7	14	16	1	0	1	0	1	0	0	1	1	1	1	5	5	2	3	5	5	0	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:152648708C>G	ENST00000368783.1	+	2	272	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	73	Cys-rich.				keratinization (GO:0031424)			p.L73L(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGCTCCCTGAGCCACCA	0.662																																																	1	Substitution - coding silent(1)	skin(1)											52	62	58					1																	152648708		2203	4300	6503	SO:0001583	missense	0				CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"Late cornified envelopes"	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.217C>G	1.37:g.152648708C>G	ENSP00000357772:p.Leu73Val			Missense_Mutation	SNP	NULL	p.L73V	ENST00000368783.1	37	c.217	CCDS1019.1	1	.	.	.	.	.	.	.	.	.	.	C	0.917	-0.716984	0.03206	.	.	ENSG00000187180	ENST00000368783	T	0.09630	2.96	3.15	2.22	0.28083	.	.	.	.	.	T	0.06188	0.0160	M	0.79805	2.47	0.20489	N	0.999898	B	0.15141	0.012	B	0.15052	0.012	T	0.27123	-1.0083	9	0.54805	T	0.06	.	8.3725	0.32423	0.0:0.7569:0.2431:0.0	.	73	Q5TA81	LCE2C_HUMAN	V	73	ENSP00000357772:L73V	ENSP00000357772:L73V	L	+	1	2	LCE2C	150915332	0.992000	0.36948	0.998000	0.56505	0.027000	0.11550	0.121000	0.15667	0.667000	0.31107	-0.217000	0.12591	CTG	LCE2C	-	NULL	ENSG00000187180		0.662	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE2C	HGNC	protein_coding	OTTHUMT00000034509.1	-	0	102	0	C	NM_178429		152648708	1	tier1	-	no_errors	ENST00000368783	ensembl	human	known	74_37	missense	10.10	89	10	SNP	0.991	G	G	152648708	C	G	152648708	3	3	77	1	0	0	0	0	1	0	0	0	8695	680	24	5	219	5	LCE2C	1	152648708	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	590442	152648708	96601913	20	20087											
NES	10763	genome.wustl.edu	37	chr1	156646855	156646855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctcccgccagcgttggtCaacgagggcccgcagggccg	5	6	14	16	5	2	0	1	0	1	0	3	1	2	0	4	3	2	2	4	3	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:156646855C>T	ENST00000368223.3	-	1	334	c.202G>A	c.(202-204)Gac>Aac	p.D68N		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	68	Coil 1B.|Rod.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCGTTGGTCAACGAGGGCC	0.741																																																	0													5	6	5					1																	156646855		1884	3837	5721	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.202G>A	1.37:g.156646855C>T	ENSP00000357206:p.Asp68Asn		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.D68N	ENST00000368223.3	37	c.202	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937340	0.73557	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.89810	-2.57	4.2	4.2	0.49525	Filament (1);	.	.	.	.	D	0.91136	0.7209	M	0.72353	2.195	0.53688	D	0.999972	D	0.58620	0.983	P	0.62649	0.905	D	0.92002	0.5611	9	0.72032	D	0.01	.	12.0475	0.53487	0.0:0.8242:0.1757:0.0	.	68	P48681	NEST_HUMAN	N	68	ENSP00000357206:D68N	ENSP00000255024:D68N	D	-	1	0	NES	154913479	1.000000	0.71417	0.631000	0.29282	0.316000	0.28119	3.714000	0.54889	2.129000	0.65627	0.462000	0.41574	GAC	NES	-	pfam_IF	ENSG00000132688		0.741	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	16	0	C	NM_006617		156646855	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	T	T	156646855	C	T	156646855	3	4	77	1	0	0	0	0	1	0	0	0	10376	826	29	3	4679	3	NES	1	156646855	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	3998147	156646855	92603766	21	20088											
FCRL5	83416	genome.wustl.edu	37	chr1	157490829	157490829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgatataaagtgtcactgtCtcactgcgctgggccccgag	8	10	12	11	2	2	1	2	1	1	0	3	2	2	1	2	1	1	1	2	1	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:157490829C>T	ENST00000361835.3	-	11	2650	c.2493G>A	c.(2491-2493)gaG>gaA	p.E831E	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.E831E	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	831	Ig-like C2-type 8.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTGTCACTGTCTCACTGCGCT	0.567																																																	0													57	63	61					1																	157490829		2203	4300	6503	SO:0001819	synonymous_variant	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2493G>A	1.37:g.157490829C>T			A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E831	ENST00000361835.3	37	c.2493	CCDS1165.1	1																																																																																			FCRL5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143297		0.567	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0	48	0	C	NM_031281		157490829	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	silent	7.94	58	5	SNP	0.200	T	T	157490829	C	T	157490829	2	4	77	1	0	0	0	0	0	0	0	1	5820	912	32	3		3	FCRL5	1	157490829	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	843974	157490829	91759792	22	20089											
CASQ1	844	genome.wustl.edu	37	chr1	160163632	160163632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccatcgtggagtttctgCttgatgtaaggactcccctg	8	12	10	11	1	1	1	0	1	1	0	3	3	2	3	3	2	1	3	3	2	1	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:160163632C>A	ENST00000368078.3	+	3	656	c.460C>A	c.(460-462)Ctt>Att	p.L154I	CASQ1_ENST00000368079.3_Missense_Mutation_p.L148I			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	154					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAGTTTCTGCTTGATGTAAG	0.522																																																	0													244	197	213					1																	160163632		2203	4299	6502	SO:0001583	missense	0			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.460C>A	1.37:g.160163632C>A	ENSP00000357057:p.Leu154Ile		B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.L154I	ENST00000368078.3	37	c.460	CCDS1198.2	1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694484	0.48202	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.79940	-1.32;-1.32	3.94	3.94	0.45596	Thioredoxin-like fold (2);	0.226289	0.38548	N	0.001655	T	0.67692	0.2920	L	0.55213	1.73	0.35786	D	0.822009	B	0.21309	0.054	B	0.27262	0.078	T	0.67173	-0.5737	10	0.30854	T	0.27	.	15.3138	0.74056	0.0:1.0:0.0:0.0	.	154	P31415	CASQ1_HUMAN	I	148;154;69	ENSP00000357058:L148I;ENSP00000357057:L154I	ENSP00000357057:L154I	L	+	1	0	CASQ1	158430256	0.949000	0.32298	1.000000	0.80357	0.938000	0.57974	1.897000	0.39799	2.209000	0.71365	0.456000	0.33151	CTT	CASQ1	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000143318		0.522	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ1	HGNC	protein_coding	OTTHUMT00000077412.1	-	0	84	0	C	NM_001231		160163632	1	tier1	-	no_errors	ENST00000368078	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	A	A	160163632	C	A	160163632	3	1	77	1	0	0	0	0	1	0	0	0	2687	797	28	3	470	3	CASQ1	1	160163632	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2672803	160163632	89086989	23	20090											
COPA	1314	genome.wustl.edu	37	chr1	160263226	160263226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacaaagaaaccatcttcagCcccaccagctgccccagggg	12	4	8	17	0	2	1	1	0	1	1	2	1	2	1	6	2	4	1	6	2	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:160263226C>T	ENST00000241704.7	-	26	2933	c.2704G>A	c.(2704-2706)Gct>Act	p.A902T	COPA_ENST00000368069.3_Missense_Mutation_p.A911T	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	902					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCATCTTCAGCCCCACCAGCT	0.458																																																	0													41	38	39					1																	160263226		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"WD repeat domain containing", "Endogenous ligands"	2230	protein-coding gene	gene with protein product	"proxenin", "xenin"	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2704G>A	1.37:g.160263226C>T	ENSP00000241704:p.Ala902Thr		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A911T	ENST00000241704.7	37	c.2731	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017895	0.54576	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.51071	0.72;0.72	6.03	4.11	0.48088	Coatomer, alpha subunit, C-terminal (1);	0.211847	0.49305	D	0.000154	T	0.31009	0.0783	M	0.74881	2.28	0.51767	D	0.99993	B;B	0.09022	0.0;0.002	B;B	0.10450	0.005;0.002	T	0.30090	-0.9990	10	0.40728	T	0.16	-10.9823	9.7834	0.40662	0.1389:0.7863:0.0:0.0748	.	902;911	P53621;P53621-2	COPA_HUMAN;.	T	911;902	ENSP00000357048:A911T;ENSP00000241704:A902T	ENSP00000241704:A902T	A	-	1	0	COPA	158529850	0.848000	0.29623	0.995000	0.50966	0.967000	0.64934	1.437000	0.34991	1.512000	0.48834	0.557000	0.71058	GCT	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.458	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0	115	0	C	NM_004371		160263226	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	missense	5.62	83	5	SNP	0.998	T	T	160263226	C	T	160263226	3	4	77	1	0	0	0	0	1	0	0	0	3734	739	26	3	1002	3	COPA	1	160263226	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	99594	160263226	88987395	24	20091											
CD48	962	genome.wustl.edu	37	chr1	160651063	160651063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgctgacttggcaagtaTaacacctggagtaattatgt	13	13	9	6	0	0	1	0	1	0	0	0	2	0	2	1	2	2	4	1	2	6	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:160651063T>C	ENST00000368046.3	-	3	668	c.581A>G	c.(580-582)tAt>tGt	p.Y194C	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	194	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTGGCAAGTATAACACCTGGA	0.522																																																	0													141	125	130					1																	160651063		2203	4300	6503	SO:0001583	missense	0			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1683	protein-coding gene	gene with protein product		109530	"CD48 antigen (B-cell membrane protein)", "CD48 molecule "	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.581A>G	1.37:g.160651063T>C	ENSP00000357025:p.Tyr194Cys		Q5U055|Q8MGR0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.Y194C	ENST00000368046.3	37	c.581	CCDS1208.1	1	.	.	.	.	.	.	.	.	.	.	T	9.179	1.022996	0.19433	.	.	ENSG00000117091	ENST00000368046	T	0.54071	0.59	3.84	1.37	0.22104	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196976	0.45361	D	0.000364	T	0.56441	0.1985	M	0.79475	2.455	0.35232	D	0.777001	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.59984	-0.7351	10	0.87932	D	0	-0.4457	6.5725	0.22547	0.4204:0.0:0.0:0.5796	.	194;194	Q6IAZ2;P09326	.;CD48_HUMAN	C	194	ENSP00000357025:Y194C	ENSP00000357025:Y194C	Y	-	2	0	CD48	158917687	0.966000	0.33281	0.408000	0.26446	0.051000	0.14879	0.434000	0.21494	0.253000	0.21552	0.533000	0.62120	TAT	CD48	-	pfscan_Ig-like_dom	ENSG00000117091		0.522	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD48	HGNC	protein_coding	OTTHUMT00000060471.1	-	0	115	0	T	NM_001778		160651063	-1	tier1	-	no_errors	ENST00000368046	ensembl	human	known	74_37	missense	51.81	40	43	SNP	0.500	C	C	160651063	T	C	160651063	3	2	77	1	0	0	0	0	1	0	0	0	3027	1406	49	4	158	4	CD48	1	160651063	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	387837	160651063	88599558	25	20092											
OLFML2B	25903	genome.wustl.edu	37	chr1	161967645	161967645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggatgtcatcttcttcttCggggctcagcgtggggctgg	3	12	15	11	3	5	0	2	0	3	0	6	1	5	1	1	6	1	2	1	6	0	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:161967645C>T	ENST00000294794.3	-	6	1867	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	OLFML2B_ENST00000367940.2_Missense_Mutation_p.E483K	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	482					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TCTTCTTCTTCGGGGCTCAGC	0.552																																																	0													156	157	157					1																	161967645		2203	4300	6503	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1444G>A	1.37:g.161967645C>T	ENSP00000294794:p.Glu482Lys		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.E482K	ENST00000294794.3	37	c.1444	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908656	0.52439	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.87256	-2.23;-2.23	4.52	4.52	0.55395	.	.	.	.	.	T	0.69305	0.3096	L	0.32530	0.975	0.32639	N	0.5209440000000001	P;P	0.43750	0.816;0.816	B;B	0.32677	0.113;0.15	T	0.72653	-0.4228	8	0.35671	T	0.21	.	14.7911	0.69844	0.0:1.0:0.0:0.0	.	483;482	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	K	482;483	ENSP00000294794:E482K;ENSP00000356917:E483K	ENSP00000294794:E482K	E	-	1	0	OLFML2B	160234269	0.963000	0.33076	0.600000	0.28864	0.904000	0.53231	4.325000	0.59234	2.348000	0.79779	0.462000	0.41574	GAA	OLFML2B	-	NULL	ENSG00000162745		0.552	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	-	0	42	0	C	NM_015441		161967645	-1	tier1	-	no_errors	ENST00000294794	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.645	T	T	161967645	C	T	161967645	3	4	77	1	0	0	0	0	1	0	0	0	10897	893	31	1	820	1	OLFML2B	1	161967645	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1316582	161967645	87282976	26	20093											
DDR2	4921	genome.wustl.edu	37	chr1	162749971	162749971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcagctgctggagaagaGatacgaagaaccgtccctca	12	7	11	11	2	2	3	2	0	0	3	3	6	3	3	2	1	5	3	2	1	4	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:162749971G>A	ENST00000367922.3	+	19	2941	c.2503G>A	c.(2503-2505)Gat>Aat	p.D835N	DDR2_ENST00000367921.3_Missense_Mutation_p.D835N|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CTGGAGAAGAGATACGAAGAA	0.483																																					NSCLC(161;314 2006 8283 19651 23192)												0													198	184	189					1																	162749971		2203	4300	6503	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2503G>A	1.37:g.162749971G>A	ENSP00000356899:p.Asp835Asn		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D835N	ENST00000367922.3	37	c.2503	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274132	0.40194	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.90385	-2.66;-2.66	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.196102	0.53938	D	0.000058	T	0.75796	0.3898	N	0.12746	0.255	0.29573	N	0.849727	B	0.15473	0.013	B	0.24269	0.052	T	0.70737	-0.4790	9	0.19147	T	0.46	.	18.3244	0.90248	0.0:0.0:1.0:0.0	.	835	Q16832	DDR2_HUMAN	N	835	ENSP00000356899:D835N;ENSP00000356898:D835N	ENSP00000356898:D835N	D	+	1	0	DDR2	161016595	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.294000	0.59043	2.671000	0.90904	0.650000	0.86243	GAT	DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000162733		0.483	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	-	0	41	0	G	NM_006182		162749971	1	tier1	-	no_errors	ENST00000367921	ensembl	human	known	74_37	missense	13.04	40	6	SNP	1.000	A	A	162749971	G	A	162749971	3	1	77	1	0	0	0	0	1	0	0	0	4346	942	33	3	2565	3	DDR2	1	162749971	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	782326	162749971	86500650	27	20094											
SEC16B	89866	genome.wustl.edu	37	chr1	177911145	177911145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacacgaggccataatctgCcagacgggaagcataaagga	15	4	13	9	2	1	1	0	0	1	1	1	5	1	4	2	4	2	1	2	4	4	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:177911145C>A	ENST00000308284.6	-	16	2001	c.1912G>T	c.(1912-1914)Gca>Tca	p.A638S	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	638					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCATAATCTGCCAGACGGGAA	0.498																																																	0													66	64	65					1																	177911145		1954	4141	6095	SO:0001583	missense	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1912G>T	1.37:g.177911145C>A	ENSP00000308339:p.Ala638Ser		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.A638S	ENST00000308284.6	37	c.1912	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380693	0.82792	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.26810	1.71	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000002	T	0.50326	0.1609	M	0.67517	2.055	0.80722	D	1	D;D;P;D	0.76494	0.999;0.996;0.942;0.993	D;D;P;D	0.76575	0.988;0.953;0.829;0.931	T	0.45920	-0.9228	10	0.56958	D	0.05	-14.6468	16.6607	0.85240	0.0:1.0:0.0:0.0	.	193;639;638;335	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	S	638;322;353	ENSP00000308339:A638S	ENSP00000239472:A353S	A	-	1	0	AL359075.1	176177768	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.279000	0.43435	2.669000	0.90835	0.655000	0.94253	GCA	SEC16B	-	NULL	ENSG00000120341		0.498	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	-	0	78	0	C	NM_033127		177911145	-1	tier1	-	no_errors	ENST00000308284	ensembl	human	known	74_37	missense	27.59	63	24	SNP	1.000	A	A	177911145	C	A	177911145	3	1	77	1	0	0	0	0	1	0	0	0	14032	739	26	3	1314	3	SEC16B	1	177911145	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	15161174	177911145	71339476	28	20095											
QSOX1	5768	genome.wustl.edu	37	chr1	180151330	180151330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctctggacctgtcccagCacaaaggcgtggcggtgcgc	6	7	15	13	3	1	0	0	0	1	0	2	1	2	1	2	5	2	2	2	5	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:180151330C>G	ENST00000367602.3	+	6	702	c.628C>G	c.(628-630)Cac>Gac	p.H210D	QSOX1_ENST00000367600.5_Missense_Mutation_p.H210D			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	210					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCTGTCCCAGCACAAAGGCGT	0.632																																																	0													150	123	132					1																	180151330		2203	4300	6503	SO:0001583	missense	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.628C>G	1.37:g.180151330C>G	ENSP00000356574:p.His210Asp		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.H210D	ENST00000367602.3	37	c.628	CCDS1337.1	1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151450	0.38021	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.04654	3.69;3.58	5.28	0.485	0.16830	.	0.477728	0.27384	N	0.019604	T	0.04724	0.0128	L	0.60455	1.87	0.26240	N	0.978881	P;B;P	0.39282	0.536;0.437;0.666	B;B;B	0.32980	0.074;0.096;0.156	T	0.31251	-0.9950	10	0.44086	T	0.13	-2.6068	7.5196	0.27620	0.0:0.3138:0.0:0.6862	.	210;210;210	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	D	210	ENSP00000356574:H210D;ENSP00000356572:H210D	ENSP00000356572:H210D	H	+	1	0	QSOX1	178417953	0.999000	0.42202	0.209000	0.23619	0.772000	0.43724	1.501000	0.35693	0.109000	0.17891	0.603000	0.83216	CAC	QSOX1	-	NULL	ENSG00000116260		0.632	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	-	0	75	0	C	NM_002826		180151330	1	tier1	-	no_errors	ENST00000367602	ensembl	human	known	74_37	missense	28.40	58	23	SNP	0.804	G	G	180151330	C	G	180151330	3	3	77	1	0	0	0	0	1	0	0	0	12928	710	25	5	650	5	QSOX1	1	180151330	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2240185	180151330	69099291	29	20096											
C1orf26	54823	genome.wustl.edu	37	chr1	185183639	185183639	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaattttctgttaccagCtaataaggcagtggatttta	11	17	7	6	0	2	0	0	0	2	0	2	1	2	1	1	2	2	3	1	2	5	8			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:185183639C>A	ENST00000367500.4	+	14	2138	c.1973C>A	c.(1972-1974)gCt>gAt	p.A658D	SWT1_ENST00000367501.3_Splice_Site_p.A658D	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	658										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTGTTACCAGCTAATAAGGCA	0.289																																																	0													73	76	75					1																	185183639		2203	4300	6503	SO:0001630	splice_region_variant	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1973-1C>A	1.37:g.185183639C>A			Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PIN_dom	p.A658D	ENST00000367500.4	37	c.1973	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599607	0.28534	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19105	2.17;2.17	5.07	5.07	0.68467	.	0.482973	0.21628	N	0.071537	T	0.23727	0.0574	M	0.63428	1.95	0.38441	D	0.946694	B	0.21821	0.061	B	0.19666	0.026	T	0.03807	-1.1002	9	.	.	.	.	13.9938	0.64382	0.0:0.8479:0.1521:0.0	.	658	Q5T5J6	SWT1_HUMAN	D	658	ENSP00000356471:A658D;ENSP00000356470:A658D	.	A	+	2	0	SWT1	183450262	1.000000	0.71417	0.959000	0.39883	0.448000	0.32197	1.050000	0.30404	2.736000	0.93811	0.655000	0.94253	GCT	SWT1	-	NULL	ENSG00000116668		0.289	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	-	0	55	0	C	NM_017673	Missense_Mutation	185183639	1	tier1	-	no_errors	ENST00000367500	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	185183639	C	A	185183639	5	1	77	1	0	0	0	0	0	0	1	0	2042	811	28	3	2023	3	C1orf26	1	185183639	Splice_Site	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	5032309	185183639	64066982	30	20097											
CRB1	23418	genome.wustl.edu	37	chr1	197316481	197316481	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttccagatatagctgtaActgcacgggtagtggattca	11	12	10	8	1	1	1	1	0	0	1	2	2	2	2	1	2	3	4	1	2	4	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:197316481A>T	ENST00000367400.3	+	4	995	c.860A>T	c.(859-861)aAc>aTc	p.N287I	CRB1_ENST00000535699.1_Missense_Mutation_p.N218I|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.N287I|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	287	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TATAGCTGTAACTGCACGGGT	0.388																																																	0													199	180	187					1																	197316481		2203	4300	6503	SO:0001583	missense	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"crumbs (Drosophila) homolog 1", "crumbs homolog 1 (Drosophila)"	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.860A>T	1.37:g.197316481A>T	ENSP00000356370:p.Asn287Ile		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.N287I	ENST00000367400.3	37	c.860	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013214	0.54468	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	T;T;D	0.90955	-0.06;-0.06;-2.76	5.4	3.0	0.34707	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86518	0.5952	N	0.25426	0.745	0.80722	D	1	P;D;P;P	0.54964	0.893;0.969;0.893;0.934	B;P;B;P	0.50537	0.416;0.595;0.328;0.643	T	0.80859	-0.1194	9	0.20046	T	0.44	.	12.022	0.53348	0.7259:0.2741:0.0:0.0	.	287;218;287;312	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	I	218;287;287	ENSP00000438786:N218I;ENSP00000438091:N287I;ENSP00000356370:N287I	ENSP00000356370:N287I	N	+	2	0	CRB1	195583104	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	5.664000	0.68045	0.318000	0.23185	0.477000	0.44152	AAC	CRB1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134376		0.388	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	-	0	69	0	A	NM_201253		197316481	1	tier1	-	no_errors	ENST00000367400	ensembl	human	known	74_37	missense	19.48	62	15	SNP	1.000	T	T	197316481	A	T	197316481	3	4	77	1	0	0	0	0	1	0	0	0	3855	43	2	5	874	5	CRB1	1	197316481	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	12132842	197316481	51934140	31	20098											
C1orf106	55765	genome.wustl.edu	37	chr1	200878412	200878412	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtggcttctggagccTgcctcctaccacgtggttcc	4	11	11	15	1	1	0	0	0	1	0	3	1	3	1	6	3	4	2	6	3	1	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:200878412T>C	ENST00000367342.4	+	8	1301	c.1101T>C	c.(1099-1101)ccT>ccC	p.P367P	C1orf106_ENST00000413687.2_Silent_p.P282P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	367										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTCTGGAGCCTGCCTCCTACC	0.642																																																	0													34	36	35					1																	200878412		2203	4299	6502	SO:0001819	synonymous_variant	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1101T>C	1.37:g.200878412T>C			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.P367	ENST00000367342.4	37	c.1101		1																																																																																			C1orf106	-	NULL	ENSG00000163362		0.642	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2		0	87	0	T	NM_018265		200878412	1			no_errors	ENST00000367342	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.000	C	C	200878412	T	C	200878412	2	2	77	1	0	0	0	0	0	0	0	1	1987	1567	55	4		4	C1orf106	1	200878412	Silent	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	3561931	200878412	48372209	32	20099											
DTL	51514	genome.wustl.edu	37	chr1	212274368	212274368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatccatctccacgaaGtccgtcatcccagacaccca	12	7	6	16	2	2	2	1	1	1	2	6	4	5	2	5	0	0	0	5	0	2	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:212274368G>A	ENST00000366991.4	+	14	2350	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	DTL_ENST00000475419.1_3'UTR|RN7SKP98_ENST00000517070.1_RNA|DTL_ENST00000542077.1_Missense_Mutation_p.S637N	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	679					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTCCACGAAGTCCGTCATCC	0.483																																																	0													44	44	44					1																	212274368		2203	4300	6503	SO:0001583	missense	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.2036G>A	1.37:g.212274368G>A	ENSP00000355958:p.Ser679Asn		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S679N	ENST00000366991.4	37	c.2036	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366954	0.24771	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.77098	-1.0;-1.07	5.71	4.79	0.61399	.	0.206627	0.56097	D	0.000023	T	0.58452	0.2123	N	0.12746	0.255	0.09310	N	1	B;B;B	0.25850	0.136;0.084;0.084	B;B;B	0.19391	0.025;0.012;0.011	T	0.51044	-0.8755	10	0.41790	T	0.15	-10.3273	8.6992	0.34316	0.078:0.3138:0.6082:0.0	.	637;679;637	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	N	679;637;358	ENSP00000355958:S679N;ENSP00000443870:S637N	ENSP00000355958:S679N	S	+	2	0	DTL	210340991	0.900000	0.30661	0.987000	0.45799	0.985000	0.73830	2.681000	0.46926	1.404000	0.46819	0.655000	0.94253	AGT	DTL	-	NULL	ENSG00000143476		0.483	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	-	0	84	0	G	NM_016448		212274368	1	tier1	-	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	22.22	70	20	SNP	0.049	A	A	212274368	G	A	212274368	3	1	77	1	0	0	0	0	1	0	0	0	4801	1029	36	3	2090	3	DTL	1	212274368	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	11395956	212274368	36976253	33	20100											
USH2A	7399	genome.wustl.edu	37	chr1	215931997	215931997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgtgatattatatggagGatagatttcttctggtgttg	9	18	11	3	0	2	2	0	1	2	1	2	4	2	4	0	3	1	1	0	3	5	8			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:215931997G>T	ENST00000307340.3	-	58	11715	c.11329C>A	c.(11329-11331)Cct>Act	p.P3777T	USH2A_ENST00000366943.2_Missense_Mutation_p.P3777T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3777	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTATATGGAGGATAGATTTCT	0.358										HNSCC(13;0.011)																																							0													165	166	165					1																	215931997		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11329C>A	1.37:g.215931997G>T	ENSP00000305941:p.Pro3777Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P3777T	ENST00000307340.3	37	c.11329	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583019	0.46006	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.9	2.76	0.32466	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.374055	0.19118	N	0.122254	T	0.39436	0.1078	M	0.64997	1.995	0.34903	D	0.746717	B	0.31503	0.326	B	0.31946	0.138	T	0.42464	-0.9450	10	0.30078	T	0.28	.	4.9131	0.13833	0.0966:0.5037:0.2857:0.114	.	3777	O75445	USH2A_HUMAN	T	3777	ENSP00000305941:P3777T;ENSP00000355910:P3777T	ENSP00000305941:P3777T	P	-	1	0	USH2A	213998620	0.849000	0.29639	0.947000	0.38551	0.989000	0.77384	0.958000	0.29227	0.738000	0.32606	0.586000	0.80456	CCT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	93	0	G	NM_007123		215931997	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	20.37	86	22	SNP	0.890	T	T	215931997	G	T	215931997	3	4	77	1	0	0	0	0	1	0	0	0	17085	1174	41	3	4339	3	USH2A	1	215931997	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	3657629	215931997	33318624	34	20101											
KIF26B	55083	genome.wustl.edu	37	chr1	245848714	245848714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctcactcacagtacacatCcagctcgtccggcggggaga	9	7	11	14	3	2	1	2	0	1	1	6	2	4	1	2	3	2	2	2	3	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:245848714C>T	ENST00000407071.2	+	12	2869	c.2429C>T	c.(2428-2430)tCc>tTc	p.S810F	KIF26B_ENST00000366518.4_Missense_Mutation_p.S429F	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	810					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGTACACATCCAGCTCGTCC	0.652																																																	0													43	49	47					1																	245848714		2170	4262	6432	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2429C>T	1.37:g.245848714C>T	ENSP00000385545:p.Ser810Phe		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S810F	ENST00000407071.2	37	c.2429	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907970	0.52333	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.79749	-1.3;-1.26	5.84	5.84	0.93424	.	.	.	.	.	D	0.91267	0.7247	M	0.84683	2.71	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.963	D	0.91743	0.5406	9	0.87932	D	0	.	20.1278	0.97990	0.0:1.0:0.0:0.0	.	429;810	B7WPD9;Q2KJY2	.;KI26B_HUMAN	F	810;429;426	ENSP00000385545:S810F;ENSP00000355475:S429F	ENSP00000355475:S429F	S	+	2	0	KIF26B	243915337	1.000000	0.71417	0.289000	0.24876	0.199000	0.23934	7.818000	0.86416	2.768000	0.95171	0.561000	0.74099	TCC	KIF26B	-	NULL	ENSG00000162849		0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0	52	0	C	XM_371354		245848714	1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.999	T	T	245848714	C	T	245848714	3	4	77	1	0	0	0	0	1	0	0	0	8322	855	30	3	2475	3	KIF26B	1	245848714	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	29916717	245848714	3401907	35	20102											
NLRP3	114548	genome.wustl.edu	37	chr1	247588786	247588786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgggtggagtcactgtccCtggggtttctccataacatg	7	12	12	10	1	2	0	1	0	1	0	5	1	3	1	2	4	1	1	2	4	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr1:247588786C>A	ENST00000336119.3	+	3	2787	c.2041C>A	c.(2041-2043)Ctg>Atg	p.L681M	NLRP3_ENST00000391828.3_Missense_Mutation_p.L681M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L681M|NLRP3_ENST00000366497.2_Missense_Mutation_p.L681M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L681M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391827.2_Missense_Mutation_p.L681M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	681					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTCACTGTCCCTGGGGTTTCT	0.507																																																	0													93	82	86					1																	247588786		2203	4300	6503	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2041C>A	1.37:g.247588786C>A	ENSP00000337383:p.Leu681Met		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L681M	ENST00000336119.3	37	c.2041	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989152	0.35131	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;T;D;T	0.92805	-3.11;-3.11;-3.11;-0.25;-3.11;-0.25	3.96	2.09	0.27110	.	0.000000	0.38326	N	0.001738	D	0.95306	0.8477	M	0.89287	3.02	0.26693	N	0.97131	D;D;D;P;D	0.89917	0.998;1.0;1.0;0.907;0.999	D;D;D;P;D	0.85130	0.939;0.992;0.997;0.814;0.95	D	0.88123	0.2833	10	0.48119	T	0.1	.	6.3591	0.21419	0.0:0.7767:0.0:0.2233	.	681;681;681;681;681	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	681	ENSP00000375704:L681M;ENSP00000355453:L681M;ENSP00000337383:L681M;ENSP00000294752:L681M;ENSP00000355452:L681M;ENSP00000375703:L681M	ENSP00000337383:L681M	L	+	1	2	NLRP3	245655409	0.378000	0.25114	0.989000	0.46669	0.489000	0.33432	0.678000	0.25277	0.641000	0.30601	0.655000	0.94253	CTG	NLRP3	-	NULL	ENSG00000162711		0.507	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	-	0	118	0	C	NM_004895		247588786	1	tier1	-	no_errors	ENST00000336119	ensembl	human	known	74_37	missense	50.54	46	47	SNP	0.998	A	A	247588786	C	A	247588786	3	1	77	1	0	0	0	0	1	0	0	0	10517	680	24	3	2051	3	NLRP3	1	247588786	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1740072	247588786	1661835	36	20103											
SNTG2	54221	genome.wustl.edu	37	chr2	1271152	1271152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagttctggctcacagagGactgctggttgcaagcaaac	10	10	11	10	0	3	1	2	0	1	1	3	2	3	2	0	3	4	6	0	3	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:1271152G>T	ENST00000308624.5	+	14	1222	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y	SNTG2_ENST00000407292.1_Missense_Mutation_p.D238Y	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	365	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTCACAGAGGACTGCTGGTT	0.542																																																	0													58	55	56					2																	1271152		1952	4173	6125	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1093G>T	2.37:g.1271152G>T	ENSP00000311837:p.Asp365Tyr		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D365Y	ENST00000308624.5	37	c.1093	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976804	0.53720	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.70164	1.11;-0.46	4.6	3.7	0.42460	Pleckstrin homology domain (1);	0.115582	0.56097	D	0.000022	T	0.74007	0.3660	L	0.56769	1.78	0.46096	D	0.998866	D;D	0.69078	0.997;0.994	P;P	0.60415	0.874;0.751	T	0.75187	-0.3406	10	0.66056	D	0.02	.	11.3616	0.49646	0.0924:0.0:0.9076:0.0	.	238;365	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	Y	365;238	ENSP00000311837:D365Y;ENSP00000385020:D238Y	ENSP00000311837:D365Y	D	+	1	0	SNTG2	1253733	1.000000	0.71417	0.921000	0.36526	0.561000	0.35649	5.778000	0.68940	0.861000	0.35504	0.643000	0.83706	GAC	SNTG2	-	NULL	ENSG00000172554		0.542	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	57	0	G	NM_018968		1271152	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T	T	1271152	G	T	1271152	3	4	77	1	0	0	0	0	1	0	0	0	14920	1174	41	3	1147	3	SNTG2	2	1271152	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		1271152	241928221	37	20104											
PXDN	7837	genome.wustl.edu	37	chr2	1667391	1667391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacctctgggctgcacaGtcaggtgggccacgaccttc	7	8	11	15	1	2	0	1	0	1	0	3	1	2	0	4	3	2	2	4	3	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:1667391G>T	ENST00000252804.4	-	12	1603	c.1553C>A	c.(1552-1554)aCt>aAt	p.T518N	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	518	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGGCTGCACAGTCAGGTGGGC	0.527																																																	0													86	93	91					2																	1667391		2027	4158	6185	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1553C>A	2.37:g.1667391G>T	ENSP00000252804:p.Thr518Asn		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.T518N	ENST00000252804.4	37	c.1553	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.526|8.526	0.869860|0.869860	0.17322|0.17322	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.68479	.|-0.33	5.79|5.79	2.03|2.03	0.26663|0.26663	.|Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.355310	.|0.32952	.|N	.|0.005452	T|T	0.49321|0.49321	0.1550|0.1550	L|L	0.45051|0.45051	1.395|1.395	0.24258|0.24258	N|N	0.995297|0.995297	.|B;B	.|0.17038	.|0.02;0.003	.|B;B	.|0.23150	.|0.044;0.02	T|T	0.26573|0.26573	-1.0099|-1.0099	5|10	.|0.21014	.|T	.|0.42	-21.5257|-21.5257	2.0139|2.0139	0.03493|0.03493	0.2673:0.123:0.4828:0.127|0.2673:0.123:0.4828:0.127	.|.	.|518;518	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	M|N	514|518	.|ENSP00000252804:T518N	.|ENSP00000252804:T518N	L|T	-|-	1|2	2|0	PXDN|PXDN	1646398|1646398	1.000000|1.000000	0.71417|0.71417	0.137000|0.137000	0.22149|0.22149	0.704000|0.704000	0.40688|0.40688	3.888000|3.888000	0.56204|0.56204	0.098000|0.098000	0.17522|0.17522	-0.165000|-0.165000	0.13383|0.13383	CTG|ACT	PXDN	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000130508		0.527	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	73	0	G	XM_056455		1667391	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.026	T	T	1667391	G	T	1667391	3	4	77	1	0	0	0	0	1	0	0	0	12892	1029	36	3	2934	3	PXDN	2	1667391	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	396239	1667391	241531982	38	20105											
LPIN1	23175	genome.wustl.edu	37	chr2	11944685	11944685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcatttctgatattgatgGgacaattaccaggtaggtcc	11	13	9	8	0	2	2	1	2	1	0	3	3	3	3	2	3	1	1	2	3	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:11944685G>T	ENST00000256720.2	+	15	2135	c.2042G>T	c.(2041-2043)gGg>gTg	p.G681V	LPIN1_ENST00000449576.2_Missense_Mutation_p.G766V|LPIN1_ENST00000425416.2_Missense_Mutation_p.G687V|LPIN1_ENST00000396099.1_Missense_Mutation_p.G723V|LPIN1_ENST00000404113.2_Missense_Mutation_p.G182V|LPIN1_ENST00000396097.1_Missense_Mutation_p.G411V	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	681	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GATATTGATGGGACAATTACC	0.527																																																	0													114	101	105					2																	11944685		2203	4300	6503	SO:0001583	missense	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2042G>T	2.37:g.11944685G>T	ENSP00000256720:p.Gly681Val		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.G766V	ENST00000256720.2	37	c.2297	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074055	0.55646	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	4.75	4.75	0.60458	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.995;0.997	D	0.98314	1.0525	10	0.87932	D	0	-29.4012	18.6476	0.91416	0.0:0.0:1.0:0.0	.	182;766;681	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	V	766;723;687;681;411;182	ENSP00000397908:G766V;ENSP00000379406:G723V;ENSP00000401522:G687V;ENSP00000256720:G681V;ENSP00000379404:G411V;ENSP00000386120:G182V	ENSP00000256720:G681V	G	+	2	0	LPIN1	11862136	1.000000	0.71417	0.137000	0.22149	0.027000	0.11550	9.345000	0.97053	2.586000	0.87340	0.655000	0.94253	GGG	LPIN1	-	pfam_LNS2,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	ENSG00000134324		0.527	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	-	0	66	0	G	NM_145693		11944685	1	tier1	-	no_errors	ENST00000449576	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	11944685	G	T	11944685	3	4	77	1	0	0	0	0	1	0	0	0	8953	1232	43	3	2096	3	LPIN1	2	11944685	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	10277294	11944685	231254688	39	20106											
DTNB	1838	genome.wustl.edu	37	chr2	25851215	25851215	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtattaaggccattgtctcGgaaggcttcaatcatgttcc	9	14	9	9	1	3	0	2	0	1	0	5	1	4	1	2	3	0	3	2	3	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:25851215G>A	ENST00000406818.3	-	4	436	c.187C>T	c.(187-189)Cga>Tga	p.R63*	DTNB_ENST00000496972.2_Nonsense_Mutation_p.R6*|DTNB_ENST00000405222.1_Nonsense_Mutation_p.R63*|DTNB_ENST00000404103.3_Nonsense_Mutation_p.R63*|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Nonsense_Mutation_p.R63*|DTNB_ENST00000407661.3_Nonsense_Mutation_p.R63*|DTNB_ENST00000407038.3_Nonsense_Mutation_p.R63*|DTNB_ENST00000288642.8_Nonsense_Mutation_p.R63*|DTNB_ENST00000472690.1_5'UTR	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	63						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGTCTCGGAAGGCTTCA	0.418																																																	0													86	79	81					2																	25851215		1916	4131	6047	SO:0001587	stop_gained	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.187C>T	2.37:g.25851215G>A	ENSP00000384084:p.Arg63*		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Nonsense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R63*	ENST00000406818.3	37	c.187	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.421721	0.97555	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	.	.	.	5.17	3.34	0.38264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6139	11.6627	0.51356	0.0:0.0:0.678:0.322	.	.	.	.	X	6;63;63;63;63;63;63;63;63;63	.	ENSP00000288642:R63X	R	-	1	2	DTNB	25704719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.872000	0.63050	0.546000	0.28920	0.655000	0.94253	CGA	DTNB	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin	ENSG00000138101		0.418	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1		0	77	0	G	NM_033147		25851215	-1			no_errors	ENST00000406818	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	A	A	25851215	G	A	25851215	4	1	77	1	0	0	0	0	0	1	0	0	4803	1124	39	1	1764	1	DTNB	2	25851215	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	13906530	25851215	217348158	40	20107											
EIF2B4	8890	genome.wustl.edu	37	chr2	27590937	27590937	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaccgggcattggagccActgaccaggccctgggagta	10	6	13	12	1	0	1	0	1	0	0	0	3	0	3	4	4	2	2	4	4	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:27590937A>T	ENST00000347454.4	-	7	831	c.660T>A	c.(658-660)agT>agA	p.S220R	AC074117.10_ENST00000412749.1_RNA|EIF2B4_ENST00000445933.2_Missense_Mutation_p.S219R|SNX17_ENST00000543024.1_5'Flank|EIF2B4_ENST00000493344.2_Missense_Mutation_p.S241R|SNX17_ENST00000233575.2_5'Flank|EIF2B4_ENST00000451130.2_Missense_Mutation_p.S240R|SNX17_ENST00000537606.1_5'Flank	NM_001034116.1|NM_015636.3	NP_001029288.1|NP_056451.3	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	220					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation (GO:0045947)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translation (GO:0006417)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGGAGCCACTGACCAGGC	0.572																																																	0													35	33	34					2																	27590937		2201	4296	6497	SO:0001583	missense	0			AJ011306	CCDS33164.1, CCDS46244.1, CCDS46245.1	2p23.3	2008-02-05	2002-08-29		ENSG00000115211	ENSG00000115211			3260	protein-coding gene	gene with protein product		606687	"eukaryotic translation initiation factor 2B, subunit 4 (delta, 67kD)"			8929216, 7982969	Standard	NM_172195		Approved	EIF2Bdelta, EIF-2B, DKFZP586J0119, EIF2B	uc002rjz.3	Q9UI10	OTTHUMG00000151927	ENST00000347454.4:c.660T>A	2.37:g.27590937A>T	ENSP00000233552:p.Ser220Arg		Q53RY7|Q5BJF4|Q9BUV9|Q9UBG4|Q9UIQ9|Q9UJ95	Missense_Mutation	SNP	pfam_IF-2B-related	p.S220R	ENST00000347454.4	37	c.660	CCDS33164.1	2	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421952	0.62622	.	.	ENSG00000115211	ENST00000347454;ENST00000414437;ENST00000445933;ENST00000451130;ENST00000493344	D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82	5.75	2.15	0.27550	.	0.165409	0.64402	D	0.000003	D	0.83408	0.5248	N	0.21282	0.65	0.45914	D	0.998754	P;P;B;B	0.45902	0.868;0.778;0.082;0.257	P;P;B;B	0.47075	0.536;0.536;0.105;0.103	T	0.75317	-0.3360	10	0.15066	T	0.55	-5.2648	7.8705	0.29563	0.6845:0.0:0.3155:0.0	.	217;219;220;240	F5H6W1;Q9UI10-3;Q9UI10;Q9UI10-2	.;.;EI2BD_HUMAN;.	R	220;217;219;240;241	ENSP00000233552:S220R;ENSP00000394397:S219R;ENSP00000394869:S240R;ENSP00000429323:S241R	ENSP00000233552:S220R	S	-	3	2	EIF2B4	27444441	0.122000	0.22280	1.000000	0.80357	0.999000	0.98932	-0.411000	0.07142	0.140000	0.18849	0.533000	0.62120	AGT	EIF2B4	-	pfam_IF-2B-related	ENSG00000115211		0.572	EIF2B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2B4	HGNC	protein_coding	OTTHUMT00000324448.1		0	26	0	A			27590937	-1			no_errors	ENST00000347454	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.998	T	T	27590937	A	T	27590937	3	4	77	1	0	0	0	0	1	0	0	0	5017	156	6	5	939	5	EIF2B4	2	27590937	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	1739722	27590937	215608436	41	20108											
LHCGR	3973	genome.wustl.edu	37	chr2	48982684	48982684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtggggccggggcagcGcagggcgccgtcgggcacgc	3	2	22	14	7	0	0	0	0	0	0	1	0	0	0	3	7	1	3	3	7	0	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:48982684G>A	ENST00000294954.7	-	1	148	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	LHCGR_ENST00000405626.1_Missense_Mutation_p.R43C|LHCGR_ENST00000344775.3_Missense_Mutation_p.R43C|LHCGR_ENST00000403273.1_Missense_Mutation_p.R43C|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Missense_Mutation_p.R43C	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	43	LRRNT.				activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCGGGGCAGCGCAGGGCGCCG	0.711																																																	0													5	8	7					2																	48982684		1567	2800	4367	SO:0001583	missense	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.127C>T	2.37:g.48982684G>A	ENSP00000294954:p.Arg43Cys		Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R43C	ENST00000294954.7	37	c.127	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289437	0.59976	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626;ENST00000403273;ENST00000401907;ENST00000428232	D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.42	1.58	0.23477	Leucine-rich repeat-containing N-terminal (1);	0.717063	0.13807	N	0.361408	T	0.81418	0.4818	N	0.08118	0	0.40786	D	0.983214	D	0.69078	0.997	P	0.53988	0.739	T	0.73777	-0.3876	9	.	.	.	.	6.9181	0.24371	0.0:0.1722:0.4723:0.3555	.	43	P22888	LSHR_HUMAN	C	43;43;43;43;43;9	ENSP00000344301:R43C;ENSP00000294954:R43C;ENSP00000386033:R43C;ENSP00000385847:R43C;ENSP00000385406:R43C;ENSP00000403748:R9C	.	R	-	1	0	LHCGR	48836188	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	0.585000	0.23879	0.125000	0.18397	-1.094000	0.02160	CGC	LHCGR	-	prints_LSH_rcpt	ENSG00000138039		0.711	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0	57	0	G	NM_000233.3		48982684	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	A	A	48982684	G	A	48982684	3	1	77	1	0	0	0	0	1	0	0	0	8791	1087	38	1	2016	1	LHCGR	2	48982684	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	21391747	48982684	194216689	42	20109											
MDH1	4190	genome.wustl.edu	37	chr2	63834065	63834065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagaagatggatcttactGcaaaggaactgacagaagaa	17	7	12	5	0	1	5	0	2	1	4	1	8	1	7	0	2	3	1	0	2	6	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:63834065G>T	ENST00000233114.8	+	9	1384	c.949G>T	c.(949-951)Gca>Tca	p.A317S	MDH1_ENST00000409908.1_Missense_Mutation_p.A152S|MDH1_ENST00000544381.1_Missense_Mutation_p.A228S|MDH1_ENST00000539945.1_Missense_Mutation_p.A335S|MDH1_ENST00000409476.1_Missense_Mutation_p.A193S|MDH1_ENST00000394423.1_Missense_Mutation_p.A317S	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	317					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						GGATCTTACTGCAAAGGAACT	0.343																																																	0													79	79	79					2																	63834065		2203	4300	6503	SO:0001583	missense	0				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.949G>T	2.37:g.63834065G>T	ENSP00000233114:p.Ala317Ser		B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	p.A335S	ENST00000233114.8	37	c.1003	CCDS1874.1	2	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862948	0.71949	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.76	5.76	0.90799	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	L	0.49350	1.555	0.80722	D	1	B;B	0.18310	0.012;0.027	B;B	0.31101	0.108;0.124	T	0.59700	-0.7405	10	0.32370	T	0.25	-39.2956	20.3431	0.98773	0.0:0.0:1.0:0.0	.	335;317	F5H098;P40925	.;MDHC_HUMAN	S	317;152;193;335;228;317	ENSP00000233114:A317S;ENSP00000386743:A152S;ENSP00000386719:A193S;ENSP00000438144:A335S;ENSP00000446395:A228S;ENSP00000377945:A317S	ENSP00000233114:A317S	A	+	1	0	MDH1	63687569	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.648000	0.83479	2.880000	0.98712	0.650000	0.86243	GCA	MDH1	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	ENSG00000014641		0.343	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH1	HGNC	protein_coding	OTTHUMT00000251687.1		0	82	0	G			63834065	1			no_errors	ENST00000539945	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	63834065	G	T	63834065	3	4	77	1	0	0	0	0	1	0	0	0	9446	1319	46	3	983	3	MDH1	2	63834065	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	14851381	63834065	179365308	43	20110											
TMEM131	23505	genome.wustl.edu	37	chr2	98377310	98377310	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtggggttgccgttctTgcccgggagcgaggctgcct	6	9	16	10	3	1	0	0	0	1	0	1	2	1	1	3	4	4	3	3	4	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:98377310T>A	ENST00000186436.5	-	37	5185	c.4957A>T	c.(4957-4959)Aag>Tag	p.K1653*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1653						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTGCCGTTCTTGCCCGGGAGC	0.532																																																	0													103	107	106					2																	98377310		2007	4173	6180	SO:0001587	stop_gained	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4957A>T	2.37:g.98377310T>A	ENSP00000186436:p.Lys1653*			Nonsense_Mutation	SNP	pfam_DUF3651_TMEM131	p.K1653*	ENST00000186436.5	37	c.4957	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	T	46	12.490148	0.99672	.	.	ENSG00000075568	ENST00000186436	.	.	.	5.45	3.04	0.35103	.	0.196123	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9685	12.7826	0.57485	0.0:0.0:0.4231:0.5769	.	.	.	.	X	1653	.	ENSP00000186436:K1653X	K	-	1	0	TMEM131	97743742	1.000000	0.71417	0.690000	0.30148	0.915000	0.54546	1.350000	0.34010	0.428000	0.26173	0.523000	0.50628	AAG	TMEM131	-	NULL	ENSG00000075568		0.532	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0	54	0	T	XM_371542		98377310	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.850	A	A	98377310	T	A	98377310	4	1	77	1	0	0	0	0	0	1	0	0	16091	1821	63	5	714	5	TMEM131	2	98377310	Nonsense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	34543245	98377310	144822063	44	20111											
PCDP1	200373	genome.wustl.edu	37	chr2	120388409	120388409	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctctctggcaaaacaTcagtcttgagcatgaaacca	13	9	7	12	0	4	2	2	2	2	0	5	2	4	2	1	1	4	3	1	1	3	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:120388409T>G	ENST00000413369.3	+	19	1993	c.1906T>G	c.(1906-1908)Tca>Gca	p.S636A	PCDP1_ENST00000602047.1_Missense_Mutation_p.S350A	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					TGGCAAAACATCAGTCTTGAG	0.458																																																	0													190	178	182					2																	120388409		2203	4300	6503	SO:0001583	missense	0																														ENST00000413369.3:c.1906T>G	2.37:g.120388409T>G	ENSP00000393222:p.Ser636Ala			Missense_Mutation	SNP	NULL	p.S636A	ENST00000413369.3	37	c.1906	CCDS33282.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.46|15.46	2.841186|2.841186	0.51057|0.51057	.|.	.|.	ENSG00000163075|ENSG00000163075	ENST00000443972;ENST00000413057|ENST00000295220;ENST00000413369	.|T	.|0.35605	.|1.3	4.91|4.91	3.75|3.75	0.43078|0.43078	.|.	.|0.413275	.|0.20834	.|N	.|0.084832	T|T	0.41743|0.41743	0.1172|0.1172	L|L	0.46157|0.46157	1.445|1.445	0.34786|0.34786	D|D	0.73525|0.73525	.|D;P	.|0.69078	.|0.997;0.952	.|P;P	.|0.55391	.|0.775;0.718	T|T	0.54268|0.54268	-0.8319|-0.8319	5|10	.|0.56958	.|D	.|0.05	-7.0816|-7.0816	7.3573|7.3573	0.26727|0.26727	0.0:0.0986:0.0:0.9014|0.0:0.0986:0.0:0.9014	.|.	.|480;636	.|Q4G0U5-3;Q4G0U5	.|.;PCDP1_HUMAN	Q|A	194;183|350;636	.|ENSP00000393222:S636A	.|ENSP00000295220:S350A	H|S	+|+	3|1	2|0	AC069154.2|AC069154.2	120104879|120104879	0.006000|0.006000	0.16342|0.16342	0.131000|0.131000	0.22000|0.22000	0.091000|0.091000	0.18340|0.18340	0.835000|0.835000	0.27531|0.27531	0.893000|0.893000	0.36288|0.36288	0.460000|0.460000	0.39030|0.39030	CAT|TCA	PCDP1	-	NULL	ENSG00000163075		0.458	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_gn	protein_coding	OTTHUMT00000464236.1	-	0	44	0	T			120388409	1	tier1	-	no_errors	ENST00000413369	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.280	G	G	120388409	T	G	120388409	3	3	77	1	0	0	0	0	1	0	0	0	11611	1435	50	4	1090	4	PCDP1	2	120388409	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	22011099	120388409	122810964	45	20112											
NR4A2	4929	genome.wustl.edu	37	chr2	157186128	157186128	+	Frame_Shift_Del	DEL	G	G	-																															gggcccgtcgaagcgcatctGgcaactagacaccggggtgc																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:157186128delG	ENST00000339562.4	-	3	933	c.571delC	c.(571-573)cagfs	p.Q191fs	NR4A2_ENST00000429376.1_Frame_Shift_Del_p.Q128fs|NR4A2_ENST00000409108.2_Frame_Shift_Del_p.Q191fs|NR4A2_ENST00000409572.1_Frame_Shift_Del_p.Q191fs|NR4A2_ENST00000539077.1_Frame_Shift_Del_p.Q202fs|NR4A2_ENST00000426264.1_Frame_Shift_Del_p.Q128fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	191	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AAGCGCATCTGGCAACTAGAC	0.652																																																	0													62	75	71					2																	157186128		2203	4300	6503	SO:0001589	frameshift_variant	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"Nuclear hormone receptors"	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.571delC	2.37:g.157186128delG	ENSP00000344479:p.Gln191fs		Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.Q202fs	ENST00000339562.4	37	c.604	CCDS2201.1	2																																																																																			NR4A2	-	prints_NURR_rcpt	ENSG00000153234		0.652	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2		0	98	0	G			157186128	-1	tier1		no_errors	ENST00000539077	ensembl	human	known	74_37	frame_shift_del	19.77	69	17	DEL	1.000	-	-	157186128	G	-	157186128	7	5	77	1	0	1	0	1	0	0	0	0	10672	1357	47	0	1249	0	NR4A2	2	157186128	Frame_Shift_Del	DEL	G	TCGA-L5-A891-01A-11D-A36J-09	36797719	157186128	86013245	46	20113											
PKP4	8502	genome.wustl.edu	37	chr2	159537052	159537052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttattttgatgaccgaGttcactttccagcttctact	8	17	5	11	1	2	2	1	2	1	0	4	3	4	2	3	0	2	2	3	0	2	7			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:159537052G>T	ENST00000389759.3	+	22	3554	c.3442G>T	c.(3442-3444)Gtt>Ttt	p.V1148F	AC005042.4_ENST00000342892.4_RNA|AC005042.4_ENST00000442666.1_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.V1105F	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1148					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TGATGACCGAGTTCACTTTCC	0.368										HNSCC(62;0.18)																																							0													138	133	135					2																	159537052		2203	4300	6503	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.3442G>T	2.37:g.159537052G>T	ENSP00000374409:p.Val1148Phe		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.V1148F	ENST00000389759.3	37	c.3442	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666646	0.67814	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.77620	-1.11;-1.05	5.49	5.49	0.81192	.	0.136815	0.50627	D	0.000104	T	0.80188	0.4577	L	0.29908	0.895	0.58432	D	0.999999	D;P;D	0.56287	0.975;0.919;0.975	P;P;P	0.55508	0.736;0.682;0.777	T	0.82236	-0.0557	10	0.87932	D	0	-9.2757	19.7433	0.96241	0.0:0.0:1.0:0.0	.	1103;1105;1148	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	F	1105;1148	ENSP00000374407:V1105F;ENSP00000374409:V1148F	ENSP00000374407:V1105F	V	+	1	0	PKP4	159245298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.419000	0.52728	2.733000	0.93635	0.655000	0.94253	GTT	PKP4	-	NULL	ENSG00000144283		0.368	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0	86	0	G			159537052	1	tier1	-	no_errors	ENST00000389759	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	159537052	G	T	159537052	3	4	77	1	0	0	0	0	1	0	0	0	12026	1029	36	3	3524	3	PKP4	2	159537052	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2350924	159537052	83662321	47	20114											
BAZ2B	29994	genome.wustl.edu	37	chr2	160242961	160242961	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcccctatatttagcAatccctcttgaagaacactc	10	13	5	13	0	1	2	0	1	1	1	4	2	3	2	3	0	3	2	3	0	6	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:160242961A>C	ENST00000392783.2	-	22	3869	c.3374T>G	c.(3373-3375)tTg>tGg	p.L1125W	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1091W|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1025W|BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1089W	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1125	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATATTTAGCAATCCCTCTTG	0.433																																																	0													110	100	103					2																	160242961		1882	4123	6005	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3374T>G	2.37:g.160242961A>C	ENSP00000376534:p.Leu1125Trp		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1125W	ENST00000392783.2	37	c.3374	CCDS2209.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.774355|4.774355	0.90108|0.90108	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.79141	.|-1.24;-1.19;-1.24;-1.19	6.08|6.08	6.08|6.08	0.98989|0.98989	.|DDT domain superfamily (1);DDT domain, subgroup (1);DDT domain (1);	.|0.000000	.|0.30464	.|U	.|0.009562	D|D	0.88062|0.88062	0.6336|0.6336	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.89133|0.89133	0.3511|0.3511	5|10	.|0.87932	.|D	.|0	-5.802|-5.802	16.6512|16.6512	0.85203|0.85203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1089;1125	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	M|W	185|1089;1125;1091;1025	.|ENSP00000376533:L1089W;ENSP00000376534:L1125W;ENSP00000348087:L1091W;ENSP00000339670:L1025W	.|ENSP00000339670:L1025W	I|L	-|-	3|2	3|0	BAZ2B|BAZ2B	159951207|159951207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.339000|9.339000	0.96797|0.96797	2.333000|2.333000	0.79357|0.79357	0.482000|0.482000	0.46254|0.46254	ATT|TTG	BAZ2B	-	pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily	ENSG00000123636		0.433	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0	63	0	A			160242961	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	30.88	47	21	SNP	1.000	C	C	160242961	A	C	160242961	3	2	77	1	0	0	0	0	1	0	0	0	1333	131	5	4	3196	4	BAZ2B	2	160242961	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	705909	160242961	82956412	48	20115											
SCN9A	6335	genome.wustl.edu	37	chr2	167056026	167056026	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcgggtggcttactgttaAgaataggtgctagcaatcca	11	11	12	7	1	0	1	0	0	0	1	2	1	1	1	1	3	3	4	1	3	6	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:167056026A>C	ENST00000409435.1	-	26	5122	c.5123T>G	c.(5122-5124)cTt>cGt	p.L1708R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.L1709R|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1697R|SCN9A_ENST00000375387.4_Missense_Mutation_p.L1709R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1708					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTACTGTTAAGAATAGGTGC	0.413																																																	0													200	213	209					2																	167056026		2203	4300	6503	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5123T>G	2.37:g.167056026A>C	ENSP00000386330:p.Leu1708Arg		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L1709R	ENST00000409435.1	37	c.5126	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	A	16.91	3.252308	0.59212	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.86	5.86	0.93980	.	0.000000	0.53938	D	0.000053	D	0.99363	0.9776	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98748	1.0719	10	0.87932	D	0	.	16.2479	0.82454	1.0:0.0:0.0:0.0	.	1697	E7EUN6	.	R	1697;1709;1709;1708	ENSP00000386306:L1697R;ENSP00000364536:L1709R;ENSP00000304748:L1709R;ENSP00000386330:L1708R	ENSP00000304748:L1709R	L	-	2	0	SCN9A	166764272	1.000000	0.71417	0.999000	0.59377	0.535000	0.34838	9.031000	0.93731	2.241000	0.73720	0.533000	0.62120	CTT	SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000169432		0.413	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	99	0	A	NM_002977		167056026	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	10.14	62	7	SNP	1.000	C	C	167056026	A	C	167056026	3	2	77	1	0	0	0	0	1	0	0	0	13970	72	3	4	847	4	SCN9A	2	167056026	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	6813065	167056026	76143347	49	20116											
FASTKD1	79675	genome.wustl.edu	37	chr2	170387869	170387869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaataaattacctttcagCccctggtggcagccttgatc	11	11	8	11	0	1	2	1	1	0	1	2	2	1	2	4	2	3	1	4	2	4	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:170387869C>A	ENST00000453153.2	-	13	2666	c.2320G>T	c.(2320-2322)Gct>Tct	p.A774S	FASTKD1_ENST00000453929.2_Missense_Mutation_p.A731S|FASTKD1_ENST00000495505.1_5'UTR	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	774					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TACCTTTCAGCCCCTGGTGGC	0.373																																																	0													62	59	60					2																	170387869		2203	4300	6503	SO:0001583	missense	0			AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.2320G>T	2.37:g.170387869C>A	ENSP00000400513:p.Ala774Ser		Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.A774S	ENST00000453153.2	37	c.2320	CCDS33318.1	2	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853651	0.51270	.	.	ENSG00000138399	ENST00000453153;ENST00000453929	T;T	0.21543	2.0;2.06	5.45	4.57	0.56435	.	4.023070	0.02415	N	0.082047	T	0.35393	0.0930	M	0.70275	2.135	0.52099	D	0.999948	P;P	0.41313	0.745;0.629	B;B	0.40659	0.336;0.181	T	0.12604	-1.0541	10	0.45353	T	0.12	-15.7708	14.4622	0.67459	0.1481:0.8519:0.0:0.0	.	731;774	Q53R41-2;Q53R41	.;FAKD1_HUMAN	S	774;731	ENSP00000400513:A774S;ENSP00000403229:A731S	ENSP00000400513:A774S	A	-	1	0	FASTKD1	170096115	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.466000	0.22019	1.296000	0.44742	0.650000	0.86243	GCT	FASTKD1	-	NULL	ENSG00000138399		0.373	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FASTKD1	HGNC	protein_coding	OTTHUMT00000337788.2	-	0	80	0	C	NM_024622		170387869	-1	tier1	-	no_errors	ENST00000453153	ensembl	human	known	74_37	missense	5.80	63	4	SNP	1.000	A	A	170387869	C	A	170387869	3	1	77	1	0	0	0	0	1	0	0	0	5707	739	26	3	235	3	FASTKD1	2	170387869	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	3331843	170387869	72811504	50	20117											
TTN	7273	genome.wustl.edu	37	chr2	179393791	179393791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaagcttcctctttgaGggctaacttttcttgagatt	7	18	8	8	0	2	3	0	3	2	1	3	4	3	3	1	1	2	2	1	1	2	8			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179393791G>T	ENST00000591111.1	-	310	101988	c.101764C>A	c.(101764-101766)Ctc>Atc	p.L33922I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L32995I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L26623I|TTN_ENST00000460472.2_Missense_Mutation_p.L26498I|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L35563I|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L26690I			Q8WZ42	TITIN_HUMAN	titin	33922					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTTTGAGGGCTAACTTT	0.403																																																	0													92	85	87					2																	179393791		1821	4076	5897	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101764C>A	2.37:g.179393791G>T	ENSP00000465570:p.Leu33922Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L32995I	ENST00000591111.1	37	c.98983		2	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869962	0.33069	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62941	-0.01;0.19;0.17;0.16	5.54	-2.47	0.06442	Ribonuclease H-like (1);	.	.	.	.	T	0.35624	0.0938	N	0.08118	0	0.19575	N	0.999967	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.26189	-1.0110	9	0.87932	D	0	.	4.9267	0.13896	0.0774:0.1127:0.2472:0.5626	.	26498;26623;26690;33922;32995	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	I	32995;26498;26690;26623;26495	ENSP00000343764:L32995I;ENSP00000434586:L26498I;ENSP00000340554:L26690I;ENSP00000352154:L26623I	ENSP00000340554:L26690I	L	-	1	0	TTN	179102037	0.325000	0.24660	0.795000	0.32087	0.529000	0.34654	-0.676000	0.05221	-0.074000	0.12820	-0.182000	0.12963	CTC	TTN	-	superfamily_RNaseH-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	84	0	G	NM_133378		179393791	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.815	T	T	179393791	G	T	179393791	3	4	77	1	0	0	0	0	1	0	0	0	16784	1000	35	3	1304	3	TTN	2	179393791	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	9005922	179393791	63805582	51	20118											
TTN	7273	genome.wustl.edu	37	chr2	179418692	179418692	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcagaaaatggaccctGtccagcagcgtttacagcac	11	9	10	11	1	1	1	1	0	0	1	2	2	2	2	2	2	4	4	2	2	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179418692G>A	ENST00000591111.1	-	283	84447	c.84223C>T	c.(84223-84225)Cag>Tag	p.Q28075*	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q27148*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q20776*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q20651*|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q29716*|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q20843*			Q8WZ42	TITIN_HUMAN	titin	28075	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGGACCCTGTCCAGCAGCG	0.423																																																	0													89	89	89					2																	179418692		1925	4132	6057	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84223C>T	2.37:g.179418692G>A	ENSP00000465570:p.Gln28075*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q27148*	ENST00000591111.1	37	c.81442		2	.	.	.	.	.	.	.	.	.	.	G	66	94.467265	0.99997	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.61	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.2789	0.20997	0.0694:0.1136:0.6374:0.1796	.	.	.	.	X	27148;20651;20843;20776;20648	.	ENSP00000340554:Q20843X	Q	-	1	0	TTN	179126938	1.000000	0.71417	0.986000	0.45419	0.998000	0.95712	2.186000	0.42593	0.636000	0.30508	0.655000	0.94253	CAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	43	0	G	NM_133378		179418692	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	16.22	31	6	SNP	0.996	A	A	179418692	G	A	179418692	4	1	77	1	0	0	0	0	0	1	0	0	16784	1386	48	3	18953	3	TTN	2	179418692	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	24901	179418692	63780681	52	20119											
TTN	7273	genome.wustl.edu	37	chr2	179433476	179433476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttacatctggctcaattaCcagatctttggcaactattg	10	16	6	9	0	3	1	1	0	2	1	3	1	3	1	1	2	3	2	1	2	5	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179433476C>T	ENST00000591111.1	-	276	72684	c.72460G>A	c.(72460-72462)Gta>Ata	p.V24154I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V23227I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16855I|TTN_ENST00000460472.2_Missense_Mutation_p.V16730I|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25795I|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16922I			Q8WZ42	TITIN_HUMAN	titin	24154					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTCAATTACCAGATCTTTG	0.418																																																	0													81	76	77					2																	179433476		1889	4110	5999	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72460G>A	2.37:g.179433476C>T	ENSP00000465570:p.Val24154Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V23227I	ENST00000591111.1	37	c.69679		2	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926431	0.34002	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64085	-0.08;0.17;0.13;0.12	5.93	5.93	0.95920	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50650	0.1628	N	0.20401	0.57	0.46096	D	0.998863	P;P;P;P	0.44006	0.824;0.824;0.824;0.824	B;B;B;B	0.37015	0.182;0.182;0.182;0.239	T	0.58482	-0.7629	9	0.87932	D	0	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	16730;16855;16922;24154	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23227;16730;16922;16855;16728	ENSP00000343764:V23227I;ENSP00000434586:V16730I;ENSP00000340554:V16922I;ENSP00000352154:V16855I	ENSP00000340554:V16922I	V	-	1	0	TTN	179141722	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.726000	0.54977	2.808000	0.96608	0.655000	0.94253	GTA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	30	0	C	NM_133378		179433476	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	T	T	179433476	C	T	179433476	3	4	77	1	0	0	0	0	1	0	0	0	16784	507	18	3	30744	3	TTN	2	179433476	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	14784	179433476	63765897	53	20120											
TTN	7273	genome.wustl.edu	37	chr2	179468904	179468904	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaacttttggttttccTggaggtccaggaaggcgata	10	11	12	8	1	0	0	0	0	0	0	2	3	2	2	3	5	1	1	3	5	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179468904T>C	ENST00000591111.1	-	232	49811	c.49587A>G	c.(49585-49587)ccA>ccG	p.P16529P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P15602P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.P9230P|TTN_ENST00000460472.2_Silent_p.P9105P|TTN_ENST00000589042.1_Silent_p.P18170P|TTN_ENST00000342175.6_Silent_p.P9297P|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16529	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTTTCCTGGAGGTCCAG	0.463																																																	0													125	123	123					2																	179468904		1925	4126	6051	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49587A>G	2.37:g.179468904T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P15602	ENST00000591111.1	37	c.46806		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	77	0	T	NM_133378		179468904	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.926	C	C	179468904	T	C	179468904	2	2	77	1	0	0	0	0	0	0	0	1	16784	1567	55	4		4	TTN	2	179468904	Silent	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	35428	179468904	63730469	54	20121											
CCDC141	285025	genome.wustl.edu	37	chr2	179702449	179702449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttccattgatgcccaaaAgatctgccacctgcacctgc	9	10	7	15	0	1	2	0	1	1	1	2	2	2	2	5	0	4	2	5	0	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:179702449A>G	ENST00000420890.2	-	23	3614	c.3497T>C	c.(3496-3498)cTt>cCt	p.L1166P	CCDC141_ENST00000295723.5_Missense_Mutation_p.L591P|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1166										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATGCCCAAAAGATCTGCCAC	0.463																																																	0													71	74	73					2																	179702449		2203	4300	6503	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26821	protein-coding gene	gene with protein product	"coiled-coil protein associated with myosin II and DISC1"					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3497T>C	2.37:g.179702449A>G	ENSP00000395995:p.Leu1166Pro		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L1166P	ENST00000420890.2	37	c.3497		2	.	.	.	.	.	.	.	.	.	.	A	11.93	1.786639	0.31593	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.48201	0.82;1.43;1.43	5.15	-0.184	0.13280	.	1.582240	0.03916	N	0.282712	T	0.24392	0.0591	N	0.08118	0	0.09310	N	1	P;B	0.34977	0.478;0.263	B;B	0.31686	0.134;0.095	T	0.12426	-1.0548	10	0.49607	T	0.09	4.9632	1.9755	0.03415	0.5549:0.1234:0.203:0.1187	.	591;591	Q6ZP82;Q6ZP82-2	CC141_HUMAN;.	P	1166;610;591	ENSP00000395995:L1166P;ENSP00000344627:L610P;ENSP00000295723:L591P	ENSP00000295723:L591P	L	-	2	0	CCDC141	179410694	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.205000	0.09411	-0.164000	0.10927	0.459000	0.35465	CTT	CCDC141	-	NULL	ENSG00000163492		0.463	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	CCDC141	HGNC	protein_coding			0	45	0	A	NM_173648		179702449	-1			no_errors	ENST00000420890	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	G	G	179702449	A	G	179702449	3	3	77	1	0	0	0	0	1	0	0	0	2782	72	3	4	859	4	CCDC141	2	179702449	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	233545	179702449	63496924	55	20122											
FSIP2	401024	genome.wustl.edu	37	chr2	186657076	186657076	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatacagcgaaaaaaattaTtgatgagagatccccacaaa	20	8	6	7	1	0	3	0	2	0	1	1	5	1	3	2	0	2	0	2	0	7	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:186657076T>A	ENST00000424728.1	+	16	5213	c.5213T>A	c.(5212-5214)aTt>aAt	p.I1738N	FSIP2_ENST00000343098.5_Missense_Mutation_p.I1827N|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	1738										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAAAATTATTGATGAGAGA	0.353																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.5213T>A	2.37:g.186657076T>A	ENSP00000401306:p.Ile1738Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.I1827N	ENST00000424728.1	37	c.5480		2	.	.	.	.	.	.	.	.	.	.	T	8.070	0.770041	0.15983	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.46063	0.88;0.88	4.3	-8.61	0.00885	.	.	.	.	.	T	0.24851	0.0603	L	0.29908	0.895	0.09310	N	1	.	.	.	.	.	.	T	0.33007	-0.9885	7	0.54805	T	0.06	.	2.8192	0.05467	0.2066:0.4582:0.1955:0.1398	.	.	.	.	N	1827;1738;1738	ENSP00000344403:I1827N;ENSP00000401306:I1738N	ENSP00000321903:I1738N	I	+	2	0	FSIP2	186365321	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.394000	0.00241	-2.897000	0.00313	-0.410000	0.06199	ATT	FSIP2	-	NULL	ENSG00000188738		0.353	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	86	0	T	NM_173651		186657076	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	45.45	30	25	SNP	0.000	A	A	186657076	T	A	186657076	3	1	77	1	0	0	0	0	1	0	0	0	6099	1493	52	5	5542	5	FSIP2	2	186657076	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	6954627	186657076	56542297	56	20123											
INO80D	54891	genome.wustl.edu	37	chr2	206921201	206921201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgaggtgacttgcagaCtgaaccctgcggtggcgctg	7	9	16	9	2	0	4	0	3	0	1	0	4	0	4	1	4	3	3	1	4	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:206921201C>T	ENST00000403263.1	-	4	1089	c.685G>A	c.(685-687)Gtc>Atc	p.V229I		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	229					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GACTTGCAGACTGAACCCTGC	0.562																																																	0													87	95	92					2																	206921201		2118	4233	6351	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.685G>A	2.37:g.206921201C>T	ENSP00000384198:p.Val229Ile		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.V229I	ENST00000403263.1	37	c.685	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781964	0.49891	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.32515	1.5;1.45	5.84	4.96	0.65561	.	0.301114	0.36374	N	0.002628	T	0.20129	0.0484	N	0.14661	0.345	0.39944	D	0.974455	B	0.02656	0.0	B	0.04013	0.001	T	0.03807	-1.1002	10	0.33141	T	0.24	.	14.7238	0.69329	0.0:0.931:0.0:0.069	.	229	Q53TQ3-2	.	I	229;229;124	ENSP00000384198:V229I;ENSP00000402369:V124I	ENSP00000233270:V229I	V	-	1	0	INO80D	206629446	1.000000	0.71417	0.981000	0.43875	0.959000	0.62525	2.594000	0.46189	1.479000	0.48272	0.655000	0.94253	GTC	INO80D	-	NULL	ENSG00000114933		0.562	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0	49	0	C	NM_017759		206921201	-1			no_errors	ENST00000403263	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	206921201	C	T	206921201	3	4	77	1	0	0	0	0	1	0	0	0	7776	565	20	3	2430	3	INO80D	2	206921201	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	20264125	206921201	36278172	57	20124											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209195411	209195411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattcctggtgtagaatctGcaaacaggtaaatagaccct	14	11	8	8	0	1	2	0	0	1	2	2	2	2	2	2	2	2	3	2	2	7	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:209195411G>A	ENST00000264380.4	+	23	4114	c.3956G>A	c.(3955-3957)tGc>tAc	p.C1319Y		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1319					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGTAGAATCTGCAAACAGGTA	0.363																																																	0													136	137	137					2																	209195411		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3956G>A	2.37:g.209195411G>A	ENSP00000264380:p.Cys1319Tyr		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.C1319Y	ENST00000264380.4	37	c.3956	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415631	0.83449	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.75367	-0.93;-0.93	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.90145	3.09	0.80722	D	1	D;D	0.71674	0.998;0.992	D;D	0.74023	0.944;0.982	D	0.90697	0.4617	10	0.87932	D	0	-10.2216	19.861	0.96785	0.0:0.0:1.0:0.0	.	1319;1263	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	Y	1319;895;1263	ENSP00000264380:C1319Y;ENSP00000405736:C1263Y	ENSP00000264380:C1319Y	C	+	2	0	PIKFYVE	208903656	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.675000	0.98638	2.767000	0.95098	0.655000	0.94253	TGC	PIKFYVE	-	NULL	ENSG00000115020		0.363	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0	85	0	G	NM_015040		209195411	1			no_errors	ENST00000264380	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	209195411	G	A	209195411	3	1	77	1	0	0	0	0	1	0	0	0	11963	1319	46	3	4053	3	PIKFYVE	2	209195411	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2274210	209195411	34003962	58	20125											
ACADL	33	genome.wustl.edu	37	chr2	211070382	211070382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaatcccattttatgtaGctttcgtcccttgataaatc	9	19	4	9	1	0	1	0	1	0	0	4	1	2	1	2	0	1	2	2	0	5	8			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:211070382G>T	ENST00000233710.3	-	6	969	c.742C>A	c.(742-744)Cta>Ata	p.L248I	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	248					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATTTTATGTAGCTTTCGTCCC	0.388																																																	0													134	125	128					2																	211070382		2203	4300	6503	SO:0001583	missense	0			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.742C>A	2.37:g.211070382G>T	ENSP00000233710:p.Leu248Ile		B2R8T3|Q8IUN8	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.L248I	ENST00000233710.3	37	c.742	CCDS2389.1	2	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241110	0.79912	.	.	ENSG00000115361	ENST00000233710	D	0.98968	-5.28	5.28	3.47	0.39725	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.148616	0.46442	D	0.000287	D	0.97939	0.9322	L	0.39692	1.235	0.54753	D	0.999982	D	0.65815	0.995	P	0.60682	0.878	D	0.97787	1.0236	10	0.66056	D	0.02	.	10.9836	0.47510	0.1503:0.0:0.8497:0.0	.	248	P28330	ACADL_HUMAN	I	248	ENSP00000233710:L248I	ENSP00000233710:L248I	L	-	1	2	ACADL	210778627	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.146000	0.64845	1.234000	0.43709	0.655000	0.94253	CTA	ACADL	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000115361		0.388	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2	-	0	75	0	G	NM_001608		211070382	-1	tier1	-	no_errors	ENST00000233710	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	211070382	G	T	211070382	3	4	77	1	0	0	0	0	1	0	0	0	112	962	34	3	574	3	ACADL	2	211070382	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1874971	211070382	32128991	59	20126											
ARL4C	10123	genome.wustl.edu	37	chr2	235405123	235405123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccgtgttcacgaactcGttgaacttgagccggtagag	9	9	13	10	4	1	3	1	2	0	1	2	4	1	3	2	2	3	4	2	2	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr2:235405123G>A	ENST00000390645.2	-	1	574	c.108C>T	c.(106-108)aaC>aaT	p.N36N	ARL4C_ENST00000339728.3_Silent_p.N36N	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	36					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TCACGAACTCGTTGAACTTGA	0.582																																					Esophageal Squamous(157;1837 2534 13028 22831)												0													80	88	86					2																	235405123		2091	4230	6321	SO:0001819	synonymous_variant	0			AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	698	protein-coding gene	gene with protein product		604787	"ADP-ribosylation factor-like 7"	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.108C>T	2.37:g.235405123G>A			Q4A519|Q53R10|Q9BVN1|Q9UQ34	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.N36	ENST00000390645.2	37	c.108	CCDS2512.1	2																																																																																			ARL4C	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000188042		0.582	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL4C	HGNC	protein_coding	OTTHUMT00000257073.1	-	0	64	0	G			235405123	-1	tier1	-	no_errors	ENST00000339728	ensembl	human	known	74_37	silent	26.67	55	20	SNP	1.000	A	A	235405123	G	A	235405123	2	1	77	1	0	0	0	0	0	0	0	1	938	1136	40	1		1	ARL4C	2	235405123	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	24334741	235405123	7794250	60	20127											
CNTN6	27255	genome.wustl.edu	37	chr3	1415749	1415749	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagaattgttaagaactaAagcatcaggtaaagaatcaa	20	9	7	5	0	3	3	3	0	0	3	3	3	3	3	0	1	2	3	0	1	9	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:1415749A>T	ENST00000446702.2	+	16	2714	c.2087A>T	c.(2086-2088)aAa>aTa	p.K696I	CNTN6_ENST00000539053.1_Missense_Mutation_p.K624I|CNTN6_ENST00000350110.2_Missense_Mutation_p.K696I			Q9UQ52	CNTN6_HUMAN	contactin 6	696	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTAAGAACTAAAGCATCAGGT	0.358																																																	0													108	107	107					3																	1415749		2203	4300	6503	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2087A>T	3.37:g.1415749A>T	ENSP00000407822:p.Lys696Ile		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K696I	ENST00000446702.2	37	c.2087	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855269	0.71719	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.54071	0.59;0.59;0.59	5.16	1.5	0.22942	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.292125	0.29515	N	0.011927	T	0.60753	0.2293	M	0.81112	2.525	0.45747	D	0.998645	D	0.57899	0.981	P	0.52267	0.694	T	0.60924	-0.7166	10	0.56958	D	0.05	.	8.8034	0.34923	0.7834:0.0:0.2166:0.0	.	696	Q9UQ52	CNTN6_HUMAN	I	696;624;696	ENSP00000407822:K696I;ENSP00000442791:K624I;ENSP00000341882:K696I	ENSP00000341882:K696I	K	+	2	0	CNTN6	1390749	1.000000	0.71417	0.990000	0.47175	0.933000	0.57130	2.131000	0.42074	0.076000	0.16826	0.533000	0.62120	AAA	CNTN6	-	superfamily_Fibronectin_type3	ENSG00000134115		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0	144	0	A	NM_014461		1415749	1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	29.37	101	42	SNP	1.000	T	T	1415749	A	T	1415749	3	4	77	1	0	0	0	0	1	0	0	0	3652	14	1	5	2145	5	CNTN6	3	1415749	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09		1415749	196606681	61	20128											
IQSEC1	9922	genome.wustl.edu	37	chr3	12949999	12949999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacatgctgggccgcaCgacgcctttctgcttctcga	5	10	12	14	4	2	0	0	0	2	0	3	3	2	1	2	2	2	3	2	2	0	2	rs562700735	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:12949999C>T	ENST00000273221.4	-	12	2863	c.2647G>A	c.(2647-2649)Gtg>Atg	p.V883M		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	883					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCGCACGACGCCTTTC	0.632													C|||	2	0.000399361	0	0	5008	,	,		17798	0.001		0	False		,,,				2504	0.001																0													69	76	73					3																	12949999		2203	4300	6503	SO:0001583	missense	0			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"brefeldin A-resistant ARF-GEF2"	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2647G>A	3.37:g.12949999C>T	ENSP00000273221:p.Val883Met		O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.V883M	ENST00000273221.4	37	c.2647	CCDS33703.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.722|0.722	-0.782999|-0.782999	0.02907|0.02907	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.48201	.|0.82;0.82	4.99|4.99	3.21|3.21	0.36854|0.36854	.|.	.|0.118078	.|0.56097	.|N	.|0.000025	T|T	0.35278|0.35278	0.0926|0.0926	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999982|0.999982	.|P;P;P	.|0.47106	.|0.496;0.89;0.627	.|B;B;B	.|0.38562	.|0.056;0.276;0.056	T|T	0.06826|0.06826	-1.0805|-1.0805	4|9	.|0.40728	.|T	.|0.16	.|.	8.8892|8.8892	0.35423|0.35423	0.0:0.7693:0.0:0.2307|0.0:0.7693:0.0:0.2307	.|.	.|869;869;883	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	H|M	883|883;869;869	.|ENSP00000273221:V883M;ENSP00000402299:V869M	.|ENSP00000273221:V883M	R|V	-|-	2|1	0|0	IQSEC1|IQSEC1	12924999|12924999	0.996000|0.996000	0.38824|0.38824	0.622000|0.622000	0.29159|0.29159	0.124000|0.124000	0.20399|0.20399	3.389000|3.389000	0.52516|0.52516	0.522000|0.522000	0.28464|0.28464	-0.749000|-0.749000	0.03505|0.03505	CGT|GTG	IQSEC1	-	NULL	ENSG00000144711		0.632	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	-	0	60	0	C	NM_014869		12949999	-1	tier1	-	no_errors	ENST00000273221	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.979	T	T	12949999	C	T	12949999	3	4	77	1	0	0	0	0	1	0	0	0	7844	536	19	1	801	1	IQSEC1	3	12949999	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	11534250	12949999	185072431	62	20129											
EOMES	8320	genome.wustl.edu	37	chr3	27761677	27761677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaccctgcatgttattgtCggctttgccacaggtcaccc	6	12	8	15	1	2	0	2	0	0	0	3	0	2	0	3	2	2	3	3	2	1	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:27761677C>T	ENST00000295743.4	-	2	1224	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	EOMES_ENST00000537516.1_Missense_Mutation_p.D46N|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.D341N			O95936	EOMES_HUMAN	eomesodermin	341					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ATGTTATTGTCGGCTTTGCCA	0.567																																																	0													104	110	108					3																	27761677		2203	4300	6503	SO:0001583	missense	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1021G>A	3.37:g.27761677C>T	ENSP00000295743:p.Asp341Asn		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D341N	ENST00000295743.4	37	c.1021	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.684652	0.96784	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.89485	-2.52;-2.52;-2.52	4.74	4.74	0.60224	p53-like transcription factor, DNA-binding (1);	0.045090	0.85682	D	0.000000	D	0.94932	0.8361	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	0.991;1.0;1.0;1.0	P;D;D;D	0.81914	0.798;0.985;0.991;0.995	D	0.95601	0.8663	10	0.72032	D	0.01	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	55;341;341;341	B7Z4I2;F5H3K1;G3XAI5;O95936	.;.;.;EOMES_HUMAN	N	341;341;46;206	ENSP00000295743:D341N;ENSP00000388620:D341N;ENSP00000442097:D46N	ENSP00000295743:D341N	D	-	1	0	EOMES	27736681	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.590000	0.82653	2.449000	0.82847	0.563000	0.77884	GAC	EOMES	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000163508		0.567	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	-	0	48	0	C	NM_005442		27761677	-1	tier1	-	no_errors	ENST00000449599	ensembl	human	known	74_37	missense	41.18	29	21	SNP	1.000	T	T	27761677	C	T	27761677	3	4	77	1	0	0	0	0	1	0	0	0	5163	884	31	1	1059	1	EOMES	3	27761677	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	14811678	27761677	170260753	63	20130											
TRANK1	9881	genome.wustl.edu	37	chr3	36897779	36897779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctactgtttccacttcaAtagaatcttcctcttcctcg	7	18	3	13	1	4	1	1	0	3	1	8	1	7	1	3	0	1	1	3	0	4	7			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:36897779A>G	ENST00000429976.2	-	12	3549	c.3302T>C	c.(3301-3303)aTt>aCt	p.I1101T	TRANK1_ENST00000301807.6_Missense_Mutation_p.I551T|TRANK1_ENST00000428977.2_Missense_Mutation_p.I551T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1101	Glu-rich.						ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCCACTTCAATAGAAtcttc	0.547																																																	0													25	27	27					3																	36897779		2031	4180	6211	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.3302T>C	3.37:g.36897779A>G	ENSP00000416168:p.Ile1101Thr		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.I1101T	ENST00000429976.2	37	c.3302	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.084314	0.00371	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29917	1.55;1.96;1.55	5.31	-10.6	0.00265	.	3.624960	0.00559	N	0.000261	T	0.10723	0.0262	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10291	-1.0636	10	0.16896	T	0.51	.	7.3781	0.26839	0.199:0.2596:0.4619:0.0796	.	1101	O15050	TRNK1_HUMAN	T	551;1101;551	ENSP00000416826:I551T;ENSP00000416168:I1101T;ENSP00000301807:I551T	ENSP00000301807:I551T	I	-	2	0	TRANK1	36872783	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.249000	0.02888	-2.352000	0.00616	-0.379000	0.06801	ATT	TRANK1	-	superfamily_P-loop_NTPase	ENSG00000168016		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	36	0	A	NM_014831		36897779	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	48.48	17	16	SNP	0.000	G	G	36897779	A	G	36897779	3	3	77	1	0	0	0	0	1	0	0	0	16502	101	4	4	5523	4	TRANK1	3	36897779	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	9136102	36897779	161124651	64	20131											
LRRFIP2	9209	genome.wustl.edu	37	chr3	37154444	37154444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagaagacctcttcttcaTtccatgagagtgactgtaag	12	12	8	9	0	4	4	2	2	2	3	5	5	5	4	2	0	0	1	2	0	2	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:37154444T>A	ENST00000336686.4	-	8	480	c.400A>T	c.(400-402)Atg>Ttg	p.M134L	LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000421307.1_Missense_Mutation_p.M134L|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.M103L			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	134	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CTCTTCTTCATTCCATGAGAG	0.333																																																	1	Whole gene deletion(1)	ovary(1)											123	126	125					3																	37154444		2203	4300	6503	SO:0001583	missense	0			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.400A>T	3.37:g.37154444T>A	ENSP00000338727:p.Met134Leu		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.M134L	ENST00000336686.4	37	c.400	CCDS2664.1	3	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467547	0.26335	.	.	ENSG00000093167	ENST00000421307;ENST00000336686;ENST00000396428	T;T;T	0.39592	1.07;1.07;1.11	5.52	3.12	0.35913	.	0.858193	0.10594	N	0.656454	T	0.18759	0.0450	N	0.08118	0	0.19300	N	0.999975	B;B	0.10296	0.003;0.003	B;B	0.09377	0.002;0.004	T	0.24728	-1.0152	10	0.02654	T	1	-22.2789	7.6771	0.28492	0.0:0.2944:0.0:0.7056	.	103;134	A8MXR0;Q9Y608	.;LRRF2_HUMAN	L	134;134;103	ENSP00000392217:M134L;ENSP00000338727:M134L;ENSP00000379705:M103L	ENSP00000338727:M134L	M	-	1	0	LRRFIP2	37129448	0.011000	0.17503	0.876000	0.34364	0.977000	0.68977	0.214000	0.17541	1.024000	0.39682	0.482000	0.46254	ATG	LRRFIP2	-	NULL	ENSG00000093167		0.333	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3	-	0	46	0	T	NM_006309		37154444	-1	tier1	-	no_errors	ENST00000336686	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.819	A	A	37154444	T	A	37154444	3	1	77	1	0	0	0	0	1	0	0	0	9063	1493	52	5	1849	5	LRRFIP2	3	37154444	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	256665	37154444	160867986	65	20132											
ITGA9	3680	genome.wustl.edu	37	chr3	37785459	37785459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatggcgagtccgtggaCgcagccaacttcattcagct	9	10	11	11	3	2	0	2	0	0	0	3	2	3	1	2	2	3	3	2	2	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:37785459C>T	ENST00000264741.5	+	22	2623	c.2367C>T	c.(2365-2367)gaC>gaT	p.D789D	AC093415.2_ENST00000449586.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	789					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGTCCGTGGACGCAGCCAACT	0.522																																																	0													170	138	149					3																	37785459		2203	4300	6503	SO:0001819	synonymous_variant	0			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"Integrins"	6145	protein-coding gene	gene with protein product	"integrin, alpha 4-like"	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2367C>T	3.37:g.37785459C>T			Q14638	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.D789	ENST00000264741.5	37	c.2367	CCDS2669.1	3																																																																																			ITGA9	-	pfam_Integrin_alpha-2	ENSG00000144668		0.522	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	-	0	53	0	C	NM_002207		37785459	1	tier1	-	no_errors	ENST00000264741	ensembl	human	known	74_37	silent	11.29	55	7	SNP	0.000	T	T	37785459	C	T	37785459	2	4	77	1	0	0	0	0	0	0	0	1	7910	535	19	1		1	ITGA9	3	37785459	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	631015	37785459	160236971	66	20133											
LTF	4057	genome.wustl.edu	37	chr3	46480843	46480843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatccatccgagacaccaCggcatgattcggggccatgg	9	8	11	13	3	0	2	0	1	0	1	3	3	2	2	4	4	0	1	4	4	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:46480843C>T	ENST00000231751.4	-	15	2147	c.1852G>A	c.(1852-1854)Gtg>Atg	p.V618M	LTF_ENST00000493056.1_5'UTR|LTF_ENST00000426532.2_Missense_Mutation_p.V574M|LTF_ENST00000417439.1_Missense_Mutation_p.V616M	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	618	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		CGAGACACCACGGCATGATTC	0.552																																																	0													147	119	129					3																	46480843		2203	4300	6503	SO:0001583	missense	0				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1852G>A	3.37:g.46480843C>T	ENSP00000231751:p.Val618Met		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.V618M	ENST00000231751.4	37	c.1852	CCDS33747.1	3	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246397	0.59103	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	H	0.95611	3.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.65586	-0.6132	10	0.87932	D	0	-3.0009	16.889	0.86082	0.0:1.0:0.0:0.0	.	616;605;618	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	M	618;574;616;605	ENSP00000231751:V618M;ENSP00000405719:V574M;ENSP00000405546:V616M;ENSP00000397427:V605M	ENSP00000231751:V618M	V	-	1	0	LTF	46455847	1.000000	0.71417	0.937000	0.37676	0.069000	0.16628	6.265000	0.72534	2.778000	0.95560	0.655000	0.94253	GTG	LTF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000012223		0.552	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	-	0	49	0	C	NM_002343		46480843	-1	tier1	-	no_errors	ENST00000231751	ensembl	human	known	74_37	missense	32.08	36	17	SNP	0.998	T	T	46480843	C	T	46480843	3	4	77	1	0	0	0	0	1	0	0	0	9114	536	19	1	292	1	LTF	3	46480843	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	8695384	46480843	151541587	67	20134											
MST1R	4486	genome.wustl.edu	37	chr3	49924846	49924846	+	Frame_Shift_Del	DEL	C	C	-																															cattcatctcatgcgaggtgCtggggcccaagttcatgtag																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:49924846delC	ENST00000296474.3	-	20	4124	c.4097delG	c.(4096-4098)agcfs	p.S1366fs	MST1R_ENST00000344206.4_Frame_Shift_Del_p.S1317fs	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1366					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		ATGCGAGGTGCTGGGGCCCAA	0.597																																																	0													131	118	122					3																	49924846		2203	4300	6503	SO:0001589	frameshift_variant	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4097delG	3.37:g.49924846delC	ENSP00000296474:p.Ser1366fs		B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S1366fs	ENST00000296474.3	37	c.4097	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt	ENSG00000164078		0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1		0	62	0	C			49924846	-1	tier1		no_errors	ENST00000296474	ensembl	human	known	74_37	frame_shift_del	10.71	75	9	DEL	0.003	-	-	49924846	C	-	49924846	7	5	77	1	0	1	0	1	0	0	0	0	9929	797	28	0	109	0	MST1R	3	49924846	Frame_Shift_Del	DEL	C	TCGA-L5-A891-01A-11D-A36J-09	3444003	49924846	148097584	68	20135	80	2									
MST1R	4486	genome.wustl.edu	37	chr3	49924847	49924848	+	Missense_Mutation	DNP	TG	TG	AA																															attcatctcatgcgaggtgcTggggcccaagttcatgtagg																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:49924847_49924848TG>AA	ENST00000296474.3	-	20	4122_4123	c.4095_4096CA>TT	c.(4093-4098)ccCAgc>ccTTgc	p.S1366C	MST1R_ENST00000344206.4_Missense_Mutation_p.S1317C	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1366					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGCGAGGTGCTGGGGCCCAAGT	0.599																																																	0																																										SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.4095_4096delinsAA	3.37:g.49924847_49924848delinsAA	ENSP00000296474:p.Ser1366Cys		B5A944|B5A945|B5A946|B5A947	Missense_Mutation|Silent	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S1366C|p.P1365	ENST00000296474.3	37	c.4096|c.4095	CCDS2807.1	3																																																																																			MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt	ENSG00000164078		0.599	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0	61|62	0	T|G			49924847|49924848	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	missense|silent	12.94|11.76	74|75	11|10	SNP	0.002|0.012	A	AA	49924848	TG	AA	49924847	3	1	77	1	0	0	0	0	1	0	0	0	9929	1580	55	5	110	5	MST1R	3	49924847	Missense_Mutation	DNP	TG	TCGA-L5-A891-01A-11D-A36J-09	1	49924847	148097583	69	20136	80	2									
CACNA2D2	9254	genome.wustl.edu	37	chr3	50405617	50405617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagctcaataaagttttTcaggaactcggtgttgttgt	10	15	10	6	1	2	1	2	1	0	0	3	2	2	2	0	2	2	4	0	2	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:50405617T>C	ENST00000479441.1	-	25	2115	c.2116A>G	c.(2116-2118)Aaa>Gaa	p.K706E	XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.K699E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.K706E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.K630E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.K699E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.K706E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.K699E|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.K699E|XXcos-LUCA11.4_ENST00000606665.1_RNA			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	706					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATAAAGTTTTTCAGGAACTCG	0.577																																																	0													163	148	153					3																	50405617		2203	4300	6503	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"Calcium channel subunits"	1400	protein-coding gene	gene with protein product	"gene 26"	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2116A>G	3.37:g.50405617T>C	ENSP00000418081:p.Lys706Glu		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.K706E	ENST00000479441.1	37	c.2116	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	T	7.391	0.630744	0.14322	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.05319	3.47;3.46;3.46;3.46;3.47;3.46;3.46;3.47	5.28	2.79	0.32731	.	0.468130	0.22862	N	0.054736	T	0.01287	0.0042	N	0.00707	-1.245	0.29206	N	0.8749	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.46610	-0.9179	10	0.02654	T	1	-13.4501	2.9658	0.05907	0.0:0.2417:0.2272:0.5311	.	706;699	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	706;699;699;630;706;699;699;706	ENSP00000407393:K706E;ENSP00000404631:K699E;ENSP00000266039:K699E;ENSP00000354228:K630E;ENSP00000390526:K706E;ENSP00000378519:K699E;ENSP00000390329:K699E;ENSP00000418081:K706E	ENSP00000266039:K699E	K	-	1	0	CACNA2D2	50380621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.617000	0.61204	1.994000	0.58287	0.460000	0.39030	AAA	CACNA2D2	-	NULL	ENSG00000007402		0.577	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	-	0	39	0	T	NM_006030		50405617	-1	tier1	-	no_errors	ENST00000435965	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	C	C	50405617	T	C	50405617	3	2	77	1	0	0	0	0	1	0	0	0	2556	1792	62	4	1402	4	CACNA2D2	3	50405617	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	480770	50405617	147616813	70	20137											
FAM3D	131177	genome.wustl.edu	37	chr3	58639452	58639452	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagctcatgtagcttcGaataaacatccatgtcgtga	12	11	9	9	2	1	2	1	2	0	0	4	3	2	2	1	0	3	4	1	0	5	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:58639452G>T	ENST00000358781.2	-	3	380	c.70C>A	c.(70-72)Cga>Aga	p.R24R		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	24					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATGTAGCTTCGAATAAACATC	0.587																																																	0													137	131	133					3																	58639452		2203	4300	6503	SO:0001819	synonymous_variant	0			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.70C>A	3.37:g.58639452G>T			Q547G2	Silent	SNP	NULL	p.R24	ENST00000358781.2	37	c.70	CCDS2893.1	3																																																																																			FAM3D	-	NULL	ENSG00000198643		0.587	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	HGNC	protein_coding	OTTHUMT00000353494.1		0	36	0	G	NM_138805		58639452	-1			no_errors	ENST00000358781	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.006	T	T	58639452	G	T	58639452	2	4	77	1	0	0	0	0	0	0	0	1	5581	1066	37	2		2	FAM3D	3	58639452	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	8233835	58639452	139382978	71	20138											
SEC61A1	29927	genome.wustl.edu	37	chr3	127788479	127788479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggagcaaagcgaggttGgcagcatgggggccctgctc	9	7	16	9	1	0	0	0	0	0	0	1	2	0	1	1	5	4	5	1	5	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:127788479G>A	ENST00000243253.3	+	12	1589	c.1405G>A	c.(1405-1407)Ggc>Agc	p.G469S	SEC61A1_ENST00000464451.1_Missense_Mutation_p.G475S|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000424880.2_Missense_Mutation_p.G349S	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	469					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAGCGAGGTTGGCAGCATGGG	0.587																																																	0													90	98	95					3																	127788479		2203	4300	6503	SO:0001583	missense	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.1405G>A	3.37:g.127788479G>A	ENSP00000243253:p.Gly469Ser		P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.G469S	ENST00000243253.3	37	c.1405	CCDS3046.1	3	.	.	.	.	.	.	.	.	.	.	G	19.47	3.834020	0.71373	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.96	4.19	0.49359	.	0.093846	0.64402	N	0.000001	T	0.67627	0.2913	M	0.64567	1.98	0.80722	D	1	P	0.48911	0.917	P	0.56434	0.798	T	0.68985	-0.5265	9	0.59425	D	0.04	.	12.6812	0.56922	0.1329:0.0:0.8671:0.0	.	469	P61619	S61A1_HUMAN	S	475;469;349	.	ENSP00000243253:G469S	G	+	1	0	SEC61A1	129271169	1.000000	0.71417	0.853000	0.33588	0.002000	0.02628	9.869000	0.99810	0.875000	0.35847	-0.145000	0.13849	GGC	SEC61A1	-	pirsf_SecY/SEC61-alpha	ENSG00000058262		0.587	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	-	0	54	0	G	NM_013336		127788479	1	tier1	-	no_errors	ENST00000243253	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.998	A	A	127788479	G	A	127788479	3	1	77	1	0	0	0	0	1	0	0	0	14045	1348	47	3	1451	3	SEC61A1	3	127788479	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	69149027	127788479	70233951	72	20139											
COPG	22820	genome.wustl.edu	37	chr3	128974935	128974935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagtgcagctttgacGtggtcaagcgctgggtgaat	8	11	15	7	2	1	3	1	3	0	0	1	3	1	3	0	2	4	4	0	2	3	1	rs369168388		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:128974935G>T	ENST00000314797.6	+	8	621	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	173					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										CAGCTTTGACGTGGTCAAGCG	0.522																																																	0													170	143	152					3																	128974935		2203	4300	6503	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"coat protein gamma-cop"	615525	"coatomer protein complex, subunit gamma"	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.517G>T	3.37:g.128974935G>T	ENSP00000325002:p.Val173Leu		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu	p.V173L	ENST00000314797.6	37	c.517	CCDS33851.1	3	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742154	0.69418	.	.	ENSG00000181789	ENST00000314797	T	0.19669	2.13	4.18	2.38	0.29361	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.642479	0.14603	N	0.309471	T	0.20536	0.0494	M	0.63169	1.94	0.42118	D	0.991417	B	0.10296	0.003	B	0.15484	0.013	T	0.03249	-1.1056	10	0.30078	T	0.28	-8.0858	7.9427	0.29967	0.204:0.0:0.796:0.0	.	173	Q9Y678	COPG_HUMAN	L	173	ENSP00000325002:V173L	ENSP00000325002:V173L	V	+	1	0	COPG	130457625	1.000000	0.71417	0.951000	0.38953	0.992000	0.81027	6.139000	0.71728	0.428000	0.26173	0.585000	0.79938	GTG	COPG1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu	ENSG00000181789		0.522	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPG1	HGNC	protein_coding	OTTHUMT00000355456.1	-	0	59	0	G	NM_016128		128974935	1	tier1	-	no_errors	ENST00000314797	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T	T	128974935	G	T	128974935	3	4	77	1	0	0	0	0	1	0	0	0	3738	1145	40	2	547	2	COPG	3	128974935	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1186456	128974935	69047495	73	20140											
PLXND1	23129	genome.wustl.edu	37	chr3	129284760	129284760	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaagtccttctgctgcTccagcgcgtggacaaagacg	9	7	11	14	4	1	1	0	0	1	1	3	2	3	2	3	1	3	3	3	1	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:129284760T>A	ENST00000324093.4	-	24	4470	c.4292A>T	c.(4291-4293)gAg>gTg	p.E1431V	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1431V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1431					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTTCTGCTGCTCCAGCGCGTG	0.567																																					Ovarian(97;366 1484 3738 22084 39045)												0													112	94	100					3																	129284760		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4292A>T	3.37:g.129284760T>A	ENSP00000317128:p.Glu1431Val		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E1431V	ENST00000324093.4	37	c.4292	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736092	0.89482	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.24908	1.83;1.83	4.86	4.86	0.63082	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.57330	0.2046	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.67158	-0.5741	10	0.87932	D	0	.	14.4915	0.67654	0.0:0.0:0.0:1.0	.	26;1431	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	V	1431	ENSP00000317128:E1431V;ENSP00000376931:E1431V	ENSP00000317128:E1431V	E	-	2	0	PLXND1	130767450	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.643000	0.83403	1.819000	0.53055	0.460000	0.39030	GAG	PLXND1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000004399		0.567	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	71	0	T	NM_015103		129284760	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	12.50	70	10	SNP	1.000	A	A	129284760	T	A	129284760	3	1	77	1	0	0	0	0	1	0	0	0	12166	1551	54	5	1537	5	PLXND1	3	129284760	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	309825	129284760	68737670	74	20141											
NEK11	79858	genome.wustl.edu	37	chr3	131068486	131068486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcagaatgctagcgaaGcagagatccgcgagtgtttg	11	8	14	8	3	1	2	1	0	0	2	2	5	2	2	1	1	3	4	1	1	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:131068486G>T	ENST00000510769.1	+	14	1742	c.1489G>T	c.(1489-1491)Gca>Tca	p.A497S	NEK11_ENST00000412440.2_Missense_Mutation_p.A418S|NEK11_ENST00000508196.1_Missense_Mutation_p.A602S|NEK11_ENST00000383366.4_Missense_Mutation_p.A602S|RP11-933H2.4_ENST00000502521.1_RNA|RP11-933H2.4_ENST00000513905.1_RNA|NEK11_ENST00000429253.2_Missense_Mutation_p.A602S|NEK11_ENST00000510688.1_Missense_Mutation_p.K569N					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TGCTAGCGAAGCAGAGATCCG	0.463																																																	0													102	103	103					3																	131068486		2203	4300	6503	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1489G>T	3.37:g.131068486G>T	ENSP00000421549:p.Ala497Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A602S	ENST00000510769.1	37	c.1804		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.41|11.41	1.631033|1.631033	0.28978|0.28978	.|.	.|.	ENSG00000114670|ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196|ENST00000510688	T;T;T;T;T|T	0.71461|0.70986	-0.52;-0.32;-0.32;-0.57;-0.32|-0.53	5.65|5.65	3.45|3.45	0.39498|0.39498	.|.	0.640917|.	0.13015|.	N|.	0.420577|.	T|T	0.68016|0.68016	0.2955|0.2955	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B;B|P	0.29988|0.42692	0.264;0.172;0.172|0.787	B;B;B|P	0.28011|0.44359	0.085;0.039;0.039|0.447	T|T	0.58092|0.58092	-0.7697|-0.7697	9|8	0.10111|0.62326	T|D	0.7|0.03	.|.	10.0225|10.0225	0.42053|0.42053	0.1954:0.0:0.8046:0.0|0.1954:0.0:0.8046:0.0	.|.	497;418;602|569	E9PHI8;B4DDN2;Q8NG66|Q8NG66-4	.;.;NEK11_HUMAN|.	S|N	497;602;602;418;602|569	ENSP00000421549:A497S;ENSP00000397180:A602S;ENSP00000372857:A602S;ENSP00000411888:A418S;ENSP00000421851:A602S|ENSP00000423458:K569N	ENSP00000372857:A602S|ENSP00000423458:K569N	A|K	+|+	1|3	0|2	NEK11|NEK11	132551176|132551176	0.079000|0.079000	0.21365|0.21365	0.020000|0.020000	0.16555|0.16555	0.446000|0.446000	0.32137|0.32137	2.534000|2.534000	0.45676|0.45676	0.492000|0.492000	0.27815|0.27815	0.561000|0.561000	0.74099|0.74099	GCA|AAG	NEK11	-	NULL	ENSG00000114670		0.463	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	-	0	55	0	G	NM_024800		131068486	1	tier1	-	no_errors	ENST00000383366	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.346	T	T	131068486	G	T	131068486	3	4	77	1	0	0	0	0	1	0	0	0	10362	971	34	3	1884	3	NEK11	3	131068486	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1783726	131068486	66953944	75	20142											
GK5	256356	genome.wustl.edu	37	chr3	141896352	141896352	+	Frame_Shift_Del	DEL	C	C	-																															cactaaaagatggaacaaaaCaaactccttcagaatcctcc																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:141896352delC	ENST00000392993.2	-	12	1266	c.1115delG	c.(1114-1116)tgtfs	p.C372fs		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	372					glycerol catabolic process (GO:0019563)		ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TGGAACAAAACAAACTCCTTC	0.338																																																	0													114	120	118					3																	141896352		2203	4300	6503	SO:0001589	frameshift_variant	0			BX648681	CCDS33871.1	3q23	2014-02-12	2006-09-21		ENSG00000175066	ENSG00000175066		"Glycerol kinases"	28635	protein-coding gene	gene with protein product						12477932	Standard	NM_001039547		Approved	MGC40579	uc003euq.2	Q6ZS86	OTTHUMG00000133572	ENST00000392993.2:c.1115delG	3.37:g.141896352delC	ENSP00000418001:p.Cys372fs		B2R9I2|D3DNG2|Q8N2A7|Q8N5E6	Frame_Shift_Del	DEL	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C	p.C372fs	ENST00000392993.2	37	c.1115	CCDS33871.1	3																																																																																			GK5	-	pfam_Carb_kinase_FGGY_C	ENSG00000175066		0.338	GK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK5	HGNC	protein_coding	OTTHUMT00000353999.1		0	153	0	C	NM_001039547		141896352	-1			no_errors	ENST00000392993	ensembl	human	known	74_37	frame_shift_del	6.56	171	12	DEL	1.000	0	-	141896352	C	-	141896352	7	5	77	1	0	1	0	1	0	0	0	0	6448	478	17	0	494	0	GK5	3	141896352	Frame_Shift_Del	DEL	C	TCGA-L5-A891-01A-11D-A36J-09	10827866	141896352	56126078	76	20143											
SLC7A14	57709	genome.wustl.edu	37	chr3	170204024	170204024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttacagacacatatgctGtcaggcagatgaccagggag	13	8	11	9	0	1	3	1	1	0	2	1	4	1	4	1	2	3	2	1	2	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:170204024G>T	ENST00000231706.5	-	5	1208	c.893C>A	c.(892-894)aCa>aAa	p.T298K	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	298					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.T298R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CACATATGCTGTCAGGCAGAT	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											255	188	211					3																	170204024		2203	4300	6503	SO:0001583	missense	0			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"Solute carriers"	29326	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 142"	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.893C>A	3.37:g.170204024G>T	ENSP00000231706:p.Thr298Lys		B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom	p.T298K	ENST00000231706.5	37	c.893	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474828	0.84640	.	.	ENSG00000013293	ENST00000231706	D	0.89939	-2.59	5.95	5.08	0.68730	Amino acid permease domain (1);	0.042850	0.85682	D	0.000000	D	0.92420	0.7594	L	0.49640	1.575	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	D	0.93028	0.6446	10	0.66056	D	0.02	.	15.2667	0.73666	0.0673:0.0:0.9327:0.0	.	298	Q8TBB6	S7A14_HUMAN	K	298	ENSP00000231706:T298K	ENSP00000231706:T298K	T	-	2	0	SLC7A14	171686718	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.587000	0.82613	1.526000	0.49068	0.563000	0.77884	ACA	SLC7A14	-	pfam_AA-permease/SLC12A_dom	ENSG00000013293		0.532	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2		0	46	0	G	NM_020949		170204024	-1			no_errors	ENST00000231706	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	170204024	G	T	170204024	3	4	77	1	0	0	0	0	1	0	0	0	14741	1377	48	3	1438	3	SLC7A14	3	170204024	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	28307672	170204024	27818406	77	20144											
NCEH1	57552	genome.wustl.edu	37	chr3	172365675	172365675	+	Splice_Site	DEL	C	C	-																															ctgaaggtgaccaggacgcaCttgcacttgccaaggcccag																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:172365675delC	ENST00000475381.1	-	2	601		c.e2+1		NCEH1_ENST00000538775.1_Frame_Shift_Del_p.S155fs|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Splice_Site			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CCAGGACGCACTTGCACTTGC	0.537																																																	0													56	50	52					3																	172365675		2203	4300	6503	SO:0001630	splice_region_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"arylacetamide deacetylase-like 1"	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.367+1G>-	3.37:g.172365675delC			B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Frame_Shift_Del	DEL	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S155fs	ENST00000475381.1	37	c.464		3																																																																																			NCEH1	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.537	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3		0	68	0	C	NM_020792	Intron	172365675	-1	tier1		no_errors	ENST00000538775	ensembl	human	known	74_37	frame_shift_del	60.94	25	39	DEL	1.000	-	-	172365675	C	-	172365675	8	5	77	1	0	1	0	1	0	0	1	0	10254	579	20	0	898	0	NCEH1	3	172365675	Splice_Site	DEL	C	TCGA-L5-A891-01A-11D-A36J-09	2161651	172365675	25656755	78	20145											
MAP3K13	9175	genome.wustl.edu	37	chr3	185198052	185198052	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcagcagctgccagtcatAttcaacctttagctctgaga	11	12	7	11	0	4	1	3	1	1	1	4	2	4	1	2	0	5	3	2	0	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:185198052A>T	ENST00000265026.3	+	13	2868	c.2534A>T	c.(2533-2535)tAt>tTt	p.Y845F	MAP3K13_ENST00000443863.1_Missense_Mutation_p.Y701F|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.Y638F|MAP3K13_ENST00000424227.1_Missense_Mutation_p.Y845F|MAP3K13_ENST00000535426.1_Missense_Mutation_p.Y701F	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGCCAGTCATATTCAACCTTT	0.438																																																	0													98	104	102					3																	185198052		2203	4300	6503	SO:0001583	missense	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2534A>T	3.37:g.185198052A>T	ENSP00000265026:p.Tyr845Phe			Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y845F	ENST00000265026.3	37	c.2534	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	A	16.21	3.058986	0.55325	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.72	4.56	0.56223	.	0.067531	0.64402	D	0.000009	T	0.18257	0.0438	N	0.24115	0.695	0.80722	D	1	D;D;D	0.63046	0.987;0.987;0.992	P;P;P	0.55011	0.766;0.766;0.715	T	0.04373	-1.0956	10	0.13470	T	0.59	.	11.7914	0.52072	0.9311:0.0:0.0689:0.0	.	701;638;845	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	F	638;845;701;701;845	ENSP00000411483:Y638F;ENSP00000399910:Y845F;ENSP00000409325:Y701F;ENSP00000439257:Y701F;ENSP00000265026:Y845F	ENSP00000265026:Y845F	Y	+	2	0	MAP3K13	186680746	1.000000	0.71417	0.049000	0.19019	0.575000	0.36095	6.246000	0.72405	0.982000	0.38575	-0.274000	0.10170	TAT	MAP3K13	-	pirsf_MAP3K12_MAP3K13	ENSG00000073803		0.438	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1		0	62	0	A	NM_004721		185198052	1			no_errors	ENST00000265026	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	185198052	A	T	185198052	3	4	77	1	0	0	0	0	1	0	0	0	9285	449	16	5	2580	5	MAP3K13	3	185198052	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	12832377	185198052	12824378	79	20146											
ETV5	2119	genome.wustl.edu	37	chr3	185797825	185797825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaataggggattctgatggGtgggtgagaggggggttgta	9	10	21	1	0	1	2	0	2	1	1	1	5	1	3	0	7	0	2	0	7	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr3:185797825G>A	ENST00000306376.5	-	7	677	c.431C>T	c.(430-432)aCc>aTc	p.T144I	ETV5_ENST00000434744.1_Missense_Mutation_p.T144I|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Missense_Mutation_p.T186I	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	144					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ATTCTGATGGGTGGGTGAGAG	0.582			T	"TMPRSS2, SCL45A3"	Prostate																																			Dom	yes		3	3q28	2119	ets variant gene 5		E	0													19	24	22					3																	185797825		2154	4257	6411	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"ets-related molecule"	601600	"ets variant gene 5 (ets-related molecule)"			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.431C>T	3.37:g.185797825G>A	ENSP00000306894:p.Thr144Ile		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.T186I	ENST00000306376.5	37	c.557	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530107	0.27387	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773	T;T;T;T	0.20738	2.05;2.05;2.05;2.05	5.31	3.48	0.39840	PEA3-type ETS-domain transcription factor, N-terminal (1);	1.142500	0.06249	N	0.691799	T	0.12135	0.0295	N	0.08118	0	0.28915	N	0.892458	B;B	0.23316	0.02;0.083	B;B	0.25291	0.026;0.059	T	0.38308	-0.9667	10	0.19147	T	0.46	.	8.2183	0.31526	0.0857:0.1585:0.7558:0.0	.	144;186	P41161;B7Z7D7	ETV5_HUMAN;.	I	144;144;186;144	ENSP00000306894:T144I;ENSP00000413755:T144I;ENSP00000441737:T186I;ENSP00000389707:T144I	ENSP00000306894:T144I	T	-	2	0	ETV5	187280519	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.299000	0.43611	0.601000	0.29879	0.557000	0.71058	ACC	ETV5	-	pfam_ETS_PEA3_N	ENSG00000244405		0.582	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	-	0	46	0	G	NM_004454		185797825	-1	tier1	-	no_errors	ENST00000537818	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	A	A	185797825	G	A	185797825	3	1	77	1	0	0	0	0	1	0	0	0	5298	1261	44	3	1129	3	ETV5	3	185797825	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	599773	185797825	12224605	80	20147											
PI4K2B	55300	genome.wustl.edu	37	chr4	25254044	25254044	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagttggaatttttccaGaaagaatctctcaaggttca	14	13	8	6	0	3	3	2	0	1	3	5	4	4	4	1	2	0	2	1	2	6	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:25254044G>T	ENST00000264864.6	+	2	559	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	PI4K2B_ENST00000512921.1_Nonsense_Mutation_p.E28*	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	124					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AATTTTTCCAGAAAGAATCTC	0.373																																																	0													112	118	116					4																	25254044		2203	4300	6503	SO:0001587	stop_gained	0			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.370G>T	4.37:g.25254044G>T	ENSP00000264864:p.Glu124*		Q9NUW2	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom	p.E124*	ENST00000264864.6	37	c.370	CCDS3433.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.760157	0.97817	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	.	.	.	5.43	4.58	0.56647	.	0.046025	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-16.1394	16.1209	0.81357	0.0:0.1341:0.8659:0.0	.	.	.	.	X	28;124;93	.	ENSP00000264864:E124X	E	+	1	0	PI4K2B	24863142	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.666000	0.61554	1.275000	0.44379	0.467000	0.42956	GAA	PI4K2B	-	NULL	ENSG00000038210		0.373	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI4K2B	HGNC	protein_coding	OTTHUMT00000250415.1	-	0	41	0	G	NM_018323		25254044	1	tier1	-	no_errors	ENST00000264864	ensembl	human	known	74_37	nonsense	9.68	28	3	SNP	1.000	T	T	25254044	G	T	25254044	4	4	77	1	0	0	0	0	0	1	0	0	11911	943	33	3	376	3	PI4K2B	4	25254044	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		25254044	165900232	81	20148											
TXK	7294	genome.wustl.edu	37	chr4	48114499	48114499	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggggaggcagtggctttcGttttgacggctgcacacggc	6	9	17	9	3	0	1	0	1	0	0	1	3	0	2	0	6	1	5	0	6	0	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:48114499G>T	ENST00000264316.4	-	4	290	c.205C>A	c.(205-207)Cga>Aga	p.R69R	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	69					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						AGTGGCTTTCGTTTTGACGGC	0.428																																																	0													95	97	96					4																	48114499		2203	4300	6503	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"SH2 domain containing"	12434	protein-coding gene	gene with protein product		600058	"PTK4 protein tyrosine kinase 4"	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.205C>A	4.37:g.48114499G>T			Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R69	ENST00000264316.4	37	c.205	CCDS3480.1	4																																																																																			TXK	-	superfamily_SH3_domain	ENSG00000074966		0.428	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7		0	45	0	G	NM_003328		48114499	-1			no_errors	ENST00000264316	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.756	T	T	48114499	G	T	48114499	2	4	77	1	0	0	0	0	0	0	0	1	16835	1153	40	2		2	TXK	4	48114499	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	22860455	48114499	143039777	82	20149											
LRRC66	339977	genome.wustl.edu	37	chr4	52861277	52861277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccccggacagccttggCtgctgtatgctcagcaaatc	7	10	10	14	1	1	0	1	0	0	0	2	1	1	1	3	2	5	5	3	2	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:52861277C>T	ENST00000343457.3	-	4	1917	c.1911G>A	c.(1909-1911)caG>caA	p.Q637Q		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	637						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACAGCCTTGGCTGCTGTATGC	0.532																																																	0													69	68	68					4																	52861277		2002	4174	6176	SO:0001819	synonymous_variant	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1911G>A	4.37:g.52861277C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Q637	ENST00000343457.3	37	c.1911	CCDS43229.1	4																																																																																			LRRC66	-	NULL	ENSG00000188993		0.532	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	-	0	46	0	C	NM_001024611		52861277	-1	tier1	-	no_errors	ENST00000343457	ensembl	human	known	74_37	silent	18.18	17	4	SNP	0.017	T	T	52861277	C	T	52861277	2	4	77	1	0	0	0	0	0	0	0	1	9053	796	28	3		3	LRRC66	4	52861277	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	4746778	52861277	138292999	83	20150											
TRAM1L1	133022	genome.wustl.edu	37	chr4	118006217	118006217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttttgtttcgctttggtGaactgcattctcttgttaat	5	22	8	6	1	1	1	0	1	1	0	3	1	1	1	0	1	2	5	0	1	2	8			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:118006217G>C	ENST00000310754.4	-	1	519	c.333C>G	c.(331-333)ttC>ttG	p.F111L		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	111					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TCGCTTTGGTGAACTGCATTC	0.358																																																	0													90	80	83					4																	118006217		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.333C>G	4.37:g.118006217G>C	ENSP00000309402:p.Phe111Leu		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.F111L	ENST00000310754.4	37	c.333	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	1.220	-0.627127	0.03610	.	.	ENSG00000174599	ENST00000310754	T	0.35048	1.33	4.29	0.312	0.15837	TRAM1-like protein (1);	0.047262	0.85682	N	0.000000	T	0.12944	0.0314	N	0.10972	0.075	0.45777	D	0.998669	B	0.10296	0.003	B	0.20184	0.028	T	0.30060	-0.9991	10	0.02654	T	1	-22.3027	4.278	0.10818	0.3907:0.1669:0.4424:0.0	.	111	Q8N609	TR1L1_HUMAN	L	111	ENSP00000309402:F111L	ENSP00000309402:F111L	F	-	3	2	TRAM1L1	118225665	1.000000	0.71417	0.996000	0.52242	0.708000	0.40852	0.886000	0.28241	0.009000	0.14813	0.655000	0.94253	TTC	TRAM1L1	-	pfam_TRAM1,pirsf_Translocation_assoc_membrane	ENSG00000174599		0.358	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0	100	0	G	NM_152402		118006217	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	75.56	11	34	SNP	1.000	C	C	118006217	G	C	118006217	3	2	77	1	0	0	0	0	1	0	0	0	16500	1281	45	5	780	5	TRAM1L1	4	118006217	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	65144940	118006217	73148059	84	20151											
OTUD4	54726	genome.wustl.edu	37	chr4	146077125	146077125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttaaatccattcacatcaGcagcagcagcagcagtctta	13	10	7	11	0	3	0	2	0	1	0	4	0	4	0	1	0	5	6	1	0	3	4	rs150581210		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:146077125G>T	ENST00000447906.2	-	8	840	c.653C>A	c.(652-654)gCt>gAt	p.A218D	OTUD4_ENST00000454497.2_Missense_Mutation_p.A153D|OTUD4_ENST00000455611.2_5'UTR			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	218					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATTCACATCAGCAGCAGCAGC	0.338																																																	0													60	64	63					4																	146077125		2202	4300	6502	SO:0001583	missense	0				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"OTU domain containing"	24949	protein-coding gene	gene with protein product		611744	"OTU domain containing 4"			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.653C>A	4.37:g.146077125G>T	ENSP00000395487:p.Ala218Asp		B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.A218D	ENST00000447906.2	37	c.653		4	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710490	0.00712	.	.	ENSG00000164164	ENST00000454497;ENST00000447906;ENST00000514973	T;T;T	0.32515	1.46;1.47;1.45	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.14743	0.0356	N	0.14661	0.345	0.80722	D	1	B;B	0.20988	0.05;0.017	B;B	0.18871	0.023;0.009	T	0.13737	-1.0498	8	0.16420	T	0.52	-6.3701	.	.	.	.	218;218	G3V0I6;Q01804	.;OTUD4_HUMAN	D	153;218;153	ENSP00000409279:A153D;ENSP00000395487:A218D;ENSP00000425972:A153D	ENSP00000395487:A218D	A	-	2	0	OTUD4	146296575	0.999000	0.42202	0.716000	0.30569	0.443000	0.32047	0.170000	0.16663	0.132000	0.18615	0.134000	0.15878	GCT	OTUD4	-	NULL	ENSG00000164164		0.338	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	OTUD4	HGNC	protein_coding	OTTHUMT00000365117.2		0	110	0	G	NM_017493		146077125	-1			no_errors	ENST00000447906	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.904	T	T	146077125	G	T	146077125	3	4	77	1	0	0	0	0	1	0	0	0	11353	971	34	3	2747	3	OTUD4	4	146077125	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	28070908	146077125	45077151	85	20152											
WDR17	116966	genome.wustl.edu	37	chr4	177037078	177037078	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactgataatttagtgatCatttggaatgttgcagaaca	14	14	9	4	0	1	3	1	2	0	1	1	4	1	4	0	1	3	3	0	1	5	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr4:177037078C>A	ENST00000280190.4	+	4	483	c.327C>A	c.(325-327)atC>atA	p.I109I	WDR17_ENST00000508596.1_Silent_p.I85I|WDR17_ENST00000393643.2_Silent_p.I85I|WDR17_ENST00000507824.2_Silent_p.I109I			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	109										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTTAGTGATCATTTGGAATG	0.308																																																	0													108	101	103					4																	177037078		2203	4300	6503	SO:0001819	synonymous_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.327C>A	4.37:g.177037078C>A			E7EQX0|Q0QD35	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I109	ENST00000280190.4	37	c.327	CCDS3825.1	4																																																																																			WDR17	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000150627		0.308	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	106	0	C			177037078	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	silent	16.92	54	11	SNP	1.000	A	A	177037078	C	A	177037078	2	1	77	1	0	0	0	0	0	0	0	1	17326	816	29	3		3	WDR17	4	177037078	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	30959953	177037078	14117198	86	20153											
FBXL7	23194	genome.wustl.edu	37	chr5	15928392	15928392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgccctcaaggtgctgaCccgcagactctgccaggaca	8	5	11	17	3	2	2	1	1	1	1	2	3	2	3	4	2	2	2	4	2	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:15928392C>T	ENST00000504595.1	+	3	1002	c.521C>T	c.(520-522)aCc>aTc	p.T174I	FBXL7_ENST00000510662.1_Missense_Mutation_p.T127I|FBXL7_ENST00000329673.7_Missense_Mutation_p.T162I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	174					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AAGGTGCTGACCCGCAGACTC	0.647																																																	0													29	34	32					5																	15928392		2133	4235	6368	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.521C>T	5.37:g.15928392C>T	ENSP00000423630:p.Thr174Ile		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.T174I	ENST00000504595.1	37	c.521	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457695	0.63401	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.51817	0.69;0.69;0.69	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.84082	2.675	0.80722	D	1	B	0.31968	0.349	B	0.29267	0.1	T	0.54649	-0.8262	10	0.10902	T	0.67	.	19.0832	0.93190	0.0:1.0:0.0:0.0	.	174	Q9UJT9	FBXL7_HUMAN	I	174;127;162	ENSP00000423630:T174I;ENSP00000425184:T127I;ENSP00000329632:T162I	ENSP00000329632:T162I	T	+	2	0	FBXL7	15981392	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.520000	0.84964	0.561000	0.74099	ACC	FBXL7	-	NULL	ENSG00000183580		0.647	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1	-	0	113	0	C	NM_012304		15928392	1	tier1	-	no_errors	ENST00000504595	ensembl	human	known	74_37	missense	22.22	84	24	SNP	1.000	T	T	15928392	C	T	15928392	3	4	77	1	0	0	0	0	1	0	0	0	5746	507	18	3	531	3	FBXL7	5	15928392	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09		15928392	164986868	87	20154											
PDZD2	23037	genome.wustl.edu	37	chr5	32058012	32058012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtggattatttgttttaaCggtacgcacaaagttggtga	11	14	12	4	2	0	1	0	1	0	0	0	3	0	2	0	3	2	4	0	3	4	6	rs375591884		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:32058012C>T	ENST00000438447.1	+	12	2391	c.2003C>T	c.(2002-2004)aCg>aTg	p.T668M	PDZD2_ENST00000282493.3_Missense_Mutation_p.T668M			O15018	PDZD2_HUMAN	PDZ domain containing 2	668	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTGTTTTAACGGTACGCACA	0.478											OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	MET/THR	0,4406		0,0,2203	66	60	62		2003	5.2	0.6	5		62	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZD2	NM_178140.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	668/2840	32058012	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2003C>T	5.37:g.32058012C>T	ENSP00000402033:p.Thr668Met	829	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T668M	ENST00000438447.1	37	c.2003	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995606	0.54147	0.0	1.16E-4	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.43688	0.94;0.94	6.06	5.2	0.72013	PDZ/DHR/GLGF (3);	0.000000	0.48286	D	0.000194	T	0.64057	0.2564	M	0.79475	2.455	0.51767	D	0.999934	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	T	0.65352	-0.6189	10	0.40728	T	0.16	.	13.1409	0.59434	0.0:0.9233:0.0:0.0767	.	494;668	B4E3P2;O15018	.;PDZD2_HUMAN	M	668;487;668	ENSP00000402033:T668M;ENSP00000282493:T668M	ENSP00000282493:T668M	T	+	2	0	PDZD2	32093769	1.000000	0.71417	0.587000	0.28692	0.072000	0.16883	7.134000	0.77268	1.583000	0.49898	-0.142000	0.14014	ACG	PDZD2	-	superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000133401		0.478	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	50	0	C			32058012	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	40.00	27	18	SNP	0.987	T	T	32058012	C	T	32058012	3	4	77	1	0	0	0	0	1	0	0	0	11740	536	19	1	2045	1	PDZD2	5	32058012	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	16129620	32058012	148857248	88	20155											
HCN1	348980	genome.wustl.edu	37	chr5	45262384	45262384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgtgaagcgcctgcGtgctcttgtgcacttcattt	4	16	12	9	2	2	1	1	1	1	0	2	1	2	1	1	1	4	3	1	1	1	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:45262384G>A	ENST00000303230.4	-	8	2369	c.2312C>T	c.(2311-2313)aCg>aTg	p.T771M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	771					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AAGCGCCTGCGTGCTCTTGTG	0.632																																																	0													77	75	76					5																	45262384		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2312C>T	5.37:g.45262384G>A	ENSP00000307342:p.Thr771Met			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.T771M	ENST00000303230.4	37	c.2312	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163237	0.78226	.	.	ENSG00000164588	ENST00000303230	T	0.77620	-1.11	5.32	5.32	0.75619	.	0.085627	0.49305	D	0.000147	T	0.81322	0.4798	L	0.40543	1.245	0.43462	D	0.995669	D	0.76494	0.999	P	0.56088	0.791	T	0.82406	-0.0473	10	0.54805	T	0.06	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	771	O60741	HCN1_HUMAN	M	771	ENSP00000307342:T771M	ENSP00000307342:T771M	T	-	2	0	HCN1	45298141	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.823000	0.86660	2.491000	0.84063	0.655000	0.94253	ACG	HCN1	-	NULL	ENSG00000164588		0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0	44	0	G	NM_021072		45262384	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	A	A	45262384	G	A	45262384	3	1	77	1	0	0	0	0	1	0	0	0	7023	1145	40	1	364	1	HCN1	5	45262384	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	13204372	45262384	135652876	89	20156											
MCCC2	64087	genome.wustl.edu	37	chr5	70898353	70898353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtagaatgcatgattattgCcaatgatgccaccgtcaaag	14	10	9	8	1	1	3	1	2	0	1	1	3	1	3	3	0	3	2	3	0	5	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:70898353C>T	ENST00000340941.6	+	5	533	c.404C>T	c.(403-405)gCc>gTc	p.A135V	MCCC2_ENST00000323375.8_Missense_Mutation_p.A135V|MCCC2_ENST00000509358.2_Missense_Mutation_p.A135V|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	135	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	ATGATTATTGCCAATGATGCC	0.413																																																	0													93	91	92					5																	70898353		2203	4300	6503	SO:0001583	missense	0			AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.404C>T	5.37:g.70898353C>T	ENSP00000343657:p.Ala135Val		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C	p.A135V	ENST00000340941.6	37	c.404	CCDS34184.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.155312	0.94686	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375	D;D;D	0.98835	-5.17;-5.17;-5.17	5.7	5.7	0.88788	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98295	0.9435	M	0.72576	2.205	0.80722	D	1	P;B;P	0.39551	0.678;0.267;0.678	P;B;P	0.44696	0.458;0.344;0.458	D	0.99274	1.0894	10	0.56958	D	0.05	-16.9475	18.6126	0.91291	0.0:1.0:0.0:0.0	.	135;4;135	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	V	135	ENSP00000343657:A135V;ENSP00000420994:A135V;ENSP00000327308:A135V	ENSP00000327308:A135V	A	+	2	0	MCCC2	70934109	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.749000	0.68704	2.683000	0.91414	0.655000	0.94253	GCC	MCCC2	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000131844		0.413	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC2	HGNC	protein_coding	OTTHUMT00000369243.4		0	131	0	C			70898353	1			no_errors	ENST00000340941	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	70898353	C	T	70898353	3	4	77	1	0	0	0	0	1	0	0	0	9413	739	26	3	422	3	MCCC2	5	70898353	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	25635969	70898353	110016907	90	20157											
MAP1B	4131	genome.wustl.edu	37	chr5	71495810	71495810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccgtgcaagaccgcagcCcttcgccacgccaccctgat	7	6	8	20	4	0	2	0	1	0	1	2	2	1	2	6	0	2	2	6	0	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:71495810C>G	ENST00000296755.7	+	5	6926	c.6628C>G	c.(6628-6630)Cct>Gct	p.P2210A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2210					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACCGCAGCCCTTCGCCACG	0.542																																					Melanoma(17;367 822 11631 31730 47712)												0													131	120	123					5																	71495810		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6628C>G	5.37:g.71495810C>G	ENSP00000296755:p.Pro2210Ala		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P2210A	ENST00000296755.7	37	c.6628	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425585	0.62733	.	.	ENSG00000131711	ENST00000296755	T	0.59638	0.25	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.79969	0.4538	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.996	T	0.81042	-0.1112	10	0.72032	D	0.01	-16.2992	20.3539	0.98825	0.0:1.0:0.0:0.0	.	2084;2210	A2BDK6;P46821	.;MAP1B_HUMAN	A	2210	ENSP00000296755:P2210A	ENSP00000296755:P2210A	P	+	1	0	MAP1B	71531566	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CCT	MAP1B	-	NULL	ENSG00000131711		0.542	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0	68	0	C	NM_005909		71495810	1			no_errors	ENST00000296755	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	G	G	71495810	C	G	71495810	3	3	77	1	0	0	0	0	1	0	0	0	9266	623	22	5	6646	5	MAP1B	5	71495810	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	597457	71495810	109419450	91	20158											
RASGRF2	5924	genome.wustl.edu	37	chr5	80363981	80363981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatcaagacacagaaatcGaaaggcttaaatcagaggta	20	6	9	6	1	2	4	2	0	0	4	3	5	2	4	0	2	0	2	0	2	7	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:80363981G>A	ENST00000265080.4	+	3	593	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	176					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E176K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CACAGAAATCGAAAGGCTTAA	0.383																																																	1	Substitution - Missense(1)	ovary(1)											123	117	119					5																	80363981		2203	4300	6503	SO:0001583	missense	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.526G>A	5.37:g.80363981G>A	ENSP00000265080:p.Glu176Lys		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E176K	ENST00000265080.4	37	c.526	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271995	0.59649	.	.	ENSG00000113319	ENST00000265080	T	0.41065	1.01	5.91	5.91	0.95273	.	0.088972	0.85682	D	0.000000	T	0.31857	0.0810	N	0.20986	0.625	0.52099	D	0.999947	B	0.22800	0.075	B	0.11329	0.006	T	0.11470	-1.0586	10	0.13470	T	0.59	.	20.2896	0.98541	0.0:0.0:1.0:0.0	.	176	O14827	RGRF2_HUMAN	K	176	ENSP00000265080:E176K	ENSP00000265080:E176K	E	+	1	0	RASGRF2	80399737	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	8.058000	0.89460	2.794000	0.96219	0.655000	0.94253	GAA	RASGRF2	-	NULL	ENSG00000113319		0.383	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2		0	56	0	G	NM_006909		80363981	1			no_errors	ENST00000265080	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	80363981	G	A	80363981	3	1	77	1	0	0	0	0	1	0	0	0	13118	1059	37	1	536	1	RASGRF2	5	80363981	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	8868171	80363981	100551279	92	20159											
POLR3G	10622	genome.wustl.edu	37	chr5	89802443	89802443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgatgatgacgatgaCgatgatgccgcagaacagga	14	6	15	6	3	0	6	0	5	0	1	0	10	0	7	1	2	2	1	1	2	2	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:89802443C>T	ENST00000399107.1	+	7	737	c.537C>T	c.(535-537)gaC>gaT	p.D179D	POLR3G_ENST00000504930.1_Silent_p.D179D	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	179	Glu-rich.|Poly-Asp.				cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		atgacgatgacgatgatgccg	0.373																																																	0													115	119	118					5																	89802443		2002	4161	6163	SO:0001819	synonymous_variant	0			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"RNA polymerase subunits"	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.537C>T	5.37:g.89802443C>T			A8MTH0	Silent	SNP	pfam_RNA_pol_III_Rpc31	p.D179	ENST00000399107.1	37	c.537	CCDS43337.1	5																																																																																			POLR3G	-	pfam_RNA_pol_III_Rpc31	ENSG00000113356		0.373	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1		0	129	0	C	NM_006467		89802443	1			no_errors	ENST00000399107	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.000	T	T	89802443	C	T	89802443	2	4	77	1	0	0	0	0	0	0	0	1	12273	535	19	1		1	POLR3G	5	89802443	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	9438462	89802443	91112817	93	20160											
APC	324	genome.wustl.edu	37	chr5	112177096	112177096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatccacttttccccaGtcatccaaagacataccaga	16	8	3	14	0	1	2	1	0	0	2	4	2	4	2	5	0	2	0	5	0	4	3	rs377040690		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:112177096G>A	ENST00000457016.1	+	16	6185	c.5805G>A	c.(5803-5805)caG>caA	p.Q1935Q	APC_ENST00000257430.4_Silent_p.Q1935Q|APC_ENST00000508376.2_Silent_p.Q1935Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1935	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTTTTCCCCAGTCATCCAAAG	0.408		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	1	Unknown(1)	skin(1)						G	,,	0,4404		0,0,2202	115	104	108		5805,5805,5751	5.1	1	5		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	1935/2844,1935/2844,1917/2826	112177096	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5805G>A	5.37:g.112177096G>A			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q1935	ENST00000457016.1	37	c.5805	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	29	0	G	NM_000038		112177096	1			no_errors	ENST00000257430	ensembl	human	known	74_37	silent	11.11	16	2	SNP	0.997	A	A	112177096	G	A	112177096	2	1	77	1	0	0	0	0	0	0	0	1	763	1020	36	3		3	APC	5	112177096	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	22374653	112177096	68738164	94	20161											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140768871	140768871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctatttcacaagtcaggGcttctgatccggacttgggg	7	12	11	11	1	4	1	2	1	2	0	5	2	5	2	2	4	0	1	2	4	2	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:140768871G>C	ENST00000519479.1	+	1	1420	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	474	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGTCAGGGCTTCTGATCC	0.547																																																	0													73	83	80					5																	140768871		1916	4112	6028	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1420G>C	5.37:g.140768871G>C	ENSP00000428288:p.Ala474Pro		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A474P	ENST00000519479.1	37	c.1420	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	19.69	3.873881	0.72180	.	.	ENSG00000253953	ENST00000519479	T	0.61980	0.06	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89326	0.6683	H	0.99634	4.67	0.47065	D	0.999309	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94193	0.7443	9	0.87932	D	0	.	18.7006	0.91619	0.0:0.0:1.0:0.0	.	474;474	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	P	474	ENSP00000428288:A474P	ENSP00000428288:A474P	A	+	1	0	PCDHGB4	140749055	1.000000	0.71417	0.991000	0.47740	0.039000	0.13416	6.456000	0.73501	2.572000	0.86782	0.655000	0.94253	GCT	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.547	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1		0	38	0	G	NM_003736		140768871	1			no_errors	ENST00000519479	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C	C	140768871	G	C	140768871	3	2	77	1	0	0	0	0	1	0	0	0	11604	1203	42	5	1422	5	PCDHGB4	5	140768871	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	28591775	140768871	40146389	95	20162											
GRIA1	2890	genome.wustl.edu	37	chr5	153190725	153190725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacttccccaagtccatGcaatcgattccttgcatgag	10	11	7	13	1	0	2	0	2	0	0	4	3	3	2	4	0	2	2	4	0	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:153190725G>A	ENST00000285900.5	+	16	3004	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	GRIA1_ENST00000340592.5_Missense_Mutation_p.M887I|GRIA1_ENST00000518142.1_Missense_Mutation_p.M807I|GRIA1_ENST00000448073.4_Missense_Mutation_p.M897I|GRIA1_ENST00000521843.2_Missense_Mutation_p.M818I|GRIA1_ENST00000518783.1_Missense_Mutation_p.M897I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	887					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCAAGTCCATGCAATCGATTC	0.622																																																	0													60	57	58					5																	153190725		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2661G>A	5.37:g.153190725G>A	ENSP00000285900:p.Met887Ile		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.M897I	ENST00000285900.5	37	c.2691	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535889	0.45176	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.03	5.03	0.67393	.	0.044281	0.85682	D	0.000000	T	0.47116	0.1428	N	0.14661	0.345	0.49389	D	0.999789	B;B;B;B;B	0.22480	0.042;0.042;0.053;0.07;0.001	B;B;B;B;B	0.15484	0.006;0.006;0.008;0.013;0.002	T	0.40478	-0.9561	10	0.40728	T	0.16	.	17.3487	0.87316	0.0:0.0:1.0:0.0	.	897;897;807;887;887	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	I	887;887;807;887;820;818;897;897	ENSP00000285900:M887I;ENSP00000427920:M807I;ENSP00000339343:M887I;ENSP00000427864:M820I;ENSP00000442108:M818I;ENSP00000428994:M897I;ENSP00000415569:M897I	ENSP00000285900:M887I	M	+	3	0	GRIA1	153170918	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.777000	0.68931	2.330000	0.79161	0.561000	0.74099	ATG	GRIA1	-	NULL	ENSG00000155511		0.622	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0	66	0	G			153190725	1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	A	A	153190725	G	A	153190725	3	1	77	1	0	0	0	0	1	0	0	0	6794	1319	46	3	2842	3	GRIA1	5	153190725	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	12421854	153190725	27724535	96	20163											
CLINT1	9685	genome.wustl.edu	37	chr5	157218818	157218818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggacgagcccataagatCaaacaggtctgaagaatttg	14	8	11	8	1	2	3	1	1	1	2	2	5	2	4	1	2	2	0	1	2	4	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:157218818C>G	ENST00000411809.2	-	10	1477	c.1273G>C	c.(1273-1275)Gat>Cat	p.D425H	CLINT1_ENST00000523908.1_Missense_Mutation_p.D425H|CLINT1_ENST00000523094.1_Missense_Mutation_p.D407H|CLINT1_ENST00000296951.5_Missense_Mutation_p.D407H|CLINT1_ENST00000530742.1_Missense_Mutation_p.D407H	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	425					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCATAAGATCAAACAGGTCT	0.493																																					Colon(22;427 587 2170 6147 14291)												0													97	103	101					5																	157218818		2030	4193	6223	SO:0001583	missense	0			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1273G>C	5.37:g.157218818C>G	ENSP00000388340:p.Asp425His		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.D407H	ENST00000411809.2	37	c.1219	CCDS47330.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.241131|4.241131	0.79912|0.79912	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.084546|.	0.85682|.	D|.	0.000000|.	T|.	0.72622|.	0.3483|.	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.995;0.987|.	P;P|.	0.57548|.	0.823;0.781|.	T|.	0.67317|.	-0.5701|.	10|.	0.72032|.	D|.	0.01|.	-16.3556|-16.3556	20.205|20.205	0.98274|0.98274	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	425;425|.	B7Z6F8;Q14677|.	.;EPN4_HUMAN|.	H|S	407;407;425;407;425|116	ENSP00000429345:D407H;ENSP00000433419:D407H;ENSP00000388340:D425H;ENSP00000296951:D407H;ENSP00000429824:D425H|.	ENSP00000296951:D407H|.	D|X	-|-	1|2	0|2	CLINT1|CLINT1	157151396|157151396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.563000|5.563000	0.67352|0.67352	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAT|TGA	CLINT1	-	NULL	ENSG00000113282		0.493	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	-	0	103	0	C	NM_014666		157218818	-1	tier1	-	no_errors	ENST00000296951	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	G	G	157218818	C	G	157218818	3	3	77	1	0	0	0	0	1	0	0	0	3538	826	29	5	616	5	CLINT1	5	157218818	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	4028093	157218818	23696442	97	20164											
C5orf25	375484	genome.wustl.edu	37	chr5	175740726	175740726	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcgagtccttttcctGcgttatgtcgttcagaccct	4	14	10	13	3	1	1	1	0	0	1	4	2	3	1	4	1	1	2	4	1	1	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr5:175740726G>T	ENST00000443967.1	+	7	2117	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	SIMC1_ENST00000332772.4_Silent_p.L31L|SIMC1_ENST00000341199.6_Silent_p.L155L|SIMC1_ENST00000430704.2_Silent_p.L155L			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	570							SUMO polymer binding (GO:0032184)										TCCTTTTCCTGCGTTATGTCG	0.502																																																	0													196	203	201					5																	175740726		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1710G>T	5.37:g.175740726G>T			J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	NULL	p.L570	ENST00000443967.1	37	c.1710		5																																																																																			SIMC1	-	NULL	ENSG00000170085		0.502	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2		0	57	0	G	NM_198567		175740726	1			no_errors	ENST00000443967	ensembl	human	known	74_37	silent	8.11	34	3	SNP	0.998	T	T	175740726	G	T	175740726	2	4	77	1	0	0	0	0	0	0	0	1	2295	1306	46	3		3	C5orf25	5	175740726	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	18521908	175740726	5174534	98	20165											
ALDH5A1	7915	genome.wustl.edu	37	chr6	24503570	24503570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgaggaagcccgccGtgtttacggagacattatcc	8	11	11	11	3	1	2	0	1	1	1	3	4	2	3	3	2	2	2	3	2	3	4	rs369366567	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:24503570G>T	ENST00000357578.3	+	3	663	c.518G>T	c.(517-519)cGt>cTt	p.R173L	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R145L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R85L|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R173L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	173					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)	p.R173H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GAAGCCCGCCGTGTTTACGGA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											45	45	45					6																	24503570		2203	4300	6503	SO:0001583	missense	0			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"Aldehyde dehydrogenases"	408	protein-coding gene	gene with protein product	"succinate-semialdehyde dehydrogenase"	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.518G>T	6.37:g.24503570G>T	ENSP00000350191:p.Arg173Leu		B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.R173L	ENST00000357578.3	37	c.518	CCDS4555.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656163	0.88056	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.22	5.22	0.72569	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91094	0.4909	10	0.87932	D	0	-2.9642	18.9912	0.92793	0.0:0.0:1.0:0.0	.	173;173	P51649;G5E949	SSDH_HUMAN;.	L	173;85;145;173	ENSP00000350191:R173L;ENSP00000438193:R85L;ENSP00000417687:R145L;ENSP00000314649:R173L	ENSP00000314649:R173L	R	+	2	0	ALDH5A1	24611549	1.000000	0.71417	0.962000	0.40283	0.478000	0.33099	6.304000	0.72800	2.708000	0.92522	0.650000	0.86243	CGT	ALDH5A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	ENSG00000112294		0.532	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	HGNC	protein_coding	OTTHUMT00000040007.2		0	38	0	G			24503570	1			no_errors	ENST00000348925	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	24503570	G	T	24503570	3	4	77	1	0	0	0	0	1	0	0	0	502	1145	40	2	528	2	ALDH5A1	6	24503570	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		24503570	146611497	99	20166											
SLC17A4	10050	genome.wustl.edu	37	chr6	25777055	25777055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaggggttctcttcccatCcgtgatcctcgtgtccctgc	3	12	9	17	2	1	1	0	1	1	0	7	1	5	1	5	2	1	1	5	2	0	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:25777055C>T	ENST00000377905.4	+	10	1255	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	SLC17A4_ENST00000397076.2_Missense_Mutation_p.S177F|SLC17A4_ENST00000439485.2_Missense_Mutation_p.S149F	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	379					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCTTCCCATCCGTGATCCTC	0.557																																																	0													187	148	161					6																	25777055		2203	4300	6503	SO:0001583	missense	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1136C>T	6.37:g.25777055C>T	ENSP00000367137:p.Ser379Phe		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S379F	ENST00000377905.4	37	c.1136	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031073	0.75504	.	.	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.60672	0.32;0.41;0.17	5.62	2.79	0.32731	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.580980	0.15678	N	0.250079	T	0.61248	0.2332	M	0.77820	2.39	0.09310	N	1	D;D;P	0.71674	0.984;0.998;0.956	D;D;D	0.72075	0.923;0.976;0.928	T	0.54430	-0.8295	10	0.87932	D	0	.	7.9996	0.30288	0.0:0.6118:0.3053:0.083	.	149;177;379	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	F	379;149;177	ENSP00000367137:S379F;ENSP00000391345:S149F;ENSP00000380266:S177F	ENSP00000367137:S379F	S	+	2	0	SLC17A4	25885034	0.000000	0.05858	0.000000	0.03702	0.590000	0.36582	0.795000	0.26972	0.370000	0.24538	0.650000	0.86243	TCC	SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.557	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0	54	0	C			25777055	1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.002	T	T	25777055	C	T	25777055	3	4	77	1	0	0	0	0	1	0	0	0	14464	855	30	3	1170	3	SLC17A4	6	25777055	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1273485	25777055	145338012	100	20167											
ZSCAN23	222696	genome.wustl.edu	37	chr6	28402448	28402448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaattctgaggtgatGgaaaagcccggcattctggc	10	10	14	7	1	2	3	0	3	2	0	2	4	2	4	1	4	1	1	1	4	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:28402448G>T	ENST00000289788.4	-	4	1109	c.964C>A	c.(964-966)Cat>Aat	p.H322N	ZSCAN23_ENST00000486481.1_5'Flank	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	322					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)|stomach(2)	4						CTGAGGTGATGGAAAAGCCCG	0.502																																																	0													67	61	63					6																	28402448		692	1591	2283	SO:0001583	missense	0			AK092117	CCDS47393.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000187987	ENSG00000187987		"-", "Zinc fingers, C2H2-type"	21193	protein-coding gene	gene with protein product			"zinc finger protein 453", "zinc finger protein 390"	ZNF453, ZNF390			Standard	NM_001012455		Approved	dJ29K1.3.1	uc003nli.4	Q3MJ62	OTTHUMG00000016346	ENST00000289788.4:c.964C>A	6.37:g.28402448G>T	ENSP00000289788:p.His322Asn		Q96KV9	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H322N	ENST00000289788.4	37	c.964	CCDS47393.1	6	.	.	.	.	.	.	.	.	.	.	G	13.02	2.110910	0.37242	.	.	ENSG00000187987	ENST00000289788	T	0.07114	3.22	3.93	3.0	0.34707	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000919	T	0.01029	0.0034	N	0.01742	-0.745	0.09310	N	1	B	0.25850	0.136	B	0.30179	0.112	T	0.48768	-0.9006	10	0.29301	T	0.29	.	6.842	0.23967	0.0:0.1911:0.6125:0.1964	.	322	Q3MJ62	ZSC23_HUMAN	N	322	ENSP00000289788:H322N	ENSP00000289788:H322N	H	-	1	0	ZSCAN23	28510427	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.738000	0.04871	2.007000	0.58848	0.650000	0.86243	CAT	ZSCAN23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187987		0.502	ZSCAN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN23	HGNC	protein_coding	OTTHUMT00000043751.2		0	55	0	G	XM_167147		28402448	-1			no_errors	ENST00000289788	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.001	T	T	28402448	G	T	28402448	3	4	77	1	0	0	0	0	1	0	0	0	18283	1348	47	3	209	3	ZSCAN23	6	28402448	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2625393	28402448	142712619	101	20168											
EHMT2	10919	genome.wustl.edu	37	chr6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-																															ctcccgagctgcgatgtgcaGgggggtgtccccatggtagt																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:31852462delG	ENST00000375537.4	-	20	2569	c.2563delC	c.(2563-2565)ctgfs	p.L855fs	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Frame_Shift_Del_p.L821fs|EHMT2_ENST00000375528.4_Frame_Shift_Del_p.L878fs|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000395728.3_Frame_Shift_Del_p.L912fs	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	855					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGATGTGCAGGGGGGTGTCC	0.657																																																	0													39	34	36					6																	31852462		1511	2708	4219	SO:0001589	frameshift_variant	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2563delC	6.37:g.31852462delG	ENSP00000364687:p.Leu855fs		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.L912fs	ENST00000375537.4	37	c.2734	CCDS4725.1	6																																																																																			EHMT2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000204371		0.657	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5		0	19	0	G	NM_006709		31852462	-1	tier1		no_errors	ENST00000395728	ensembl	human	known	74_37	frame_shift_del	20.00	12	3	DEL	1.000	-	-	31852462	G	-	31852462	7	5	77	1	0	1	0	1	0	0	0	0	4998	991	35	0	1105	0	EHMT2	6	31852462	Frame_Shift_Del	DEL	G	TCGA-L5-A891-01A-11D-A36J-09	3450014	31852462	139262605	102	20169											
TAP2	6891	genome.wustl.edu	37	chr6	32797731	32797731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtatattccatgctccatttCctggatgaagtcatctgcgt	8	15	8	10	1	2	1	1	1	1	0	5	2	5	2	3	1	2	2	3	1	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:32797731C>T	ENST00000452392.2	-	10	1944	c.1771G>A	c.(1771-1773)Gaa>Aaa	p.E591K	TAP2_ENST00000374897.2_Missense_Mutation_p.E591K|TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Missense_Mutation_p.E591K			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	TGCTCCATTTCCTGGATGAAG	0.468																																																	0													150	160	157					6																	32797731		1511	2709	4220	SO:0001583	missense	0			M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"ATP binding cassette transporters / subfamily B"	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.1771G>A	6.37:g.32797731C>T	ENSP00000391806:p.Glu591Lys		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2	p.E591K	ENST00000452392.2	37	c.1771		6	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742838	0.69418	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.93307	-3.2;-3.2;-3.2	5.29	2.09	0.27110	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.607232	0.14659	N	0.306044	T	0.75591	0.3870	N	0.01076	-1.035	0.28639	N	0.907242	B;P;P;P	0.51653	0.392;0.947;0.947;0.947	B;P;P;P	0.54270	0.262;0.747;0.747;0.747	T	0.73212	-0.4054	9	0.17369	T	0.5	-53.7861	9.5986	0.39589	0.0:0.7201:0.0:0.2799	.	591;592;591;591	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	K	591	ENSP00000364034:E591K;ENSP00000364032:E591K;ENSP00000391806:E591K	ENSP00000364032:E591K	E	-	1	0	XXbac-BPG246D15.9;TAP2	32905709	0.002000	0.14202	0.006000	0.13384	0.461000	0.32589	0.746000	0.26275	0.616000	0.30141	-0.375000	0.07067	GAA	TAP2	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2	ENSG00000204267		0.468	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	TAP2	HGNC	protein_coding	OTTHUMT00000361828.1	-	0	60	0	C	NM_000544		32797731	-1	tier1	-	no_errors	ENST00000374897	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.015	T	T	32797731	C	T	32797731	3	4	77	1	0	0	0	0	1	0	0	0	15598	864	30	3	386	3	TAP2	6	32797731	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	945269	32797731	138317336	103	20170											
SLC26A8	116369	genome.wustl.edu	37	chr6	35923059	35923059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctcccctggctttccGccacatcaggcagtcctggt	5	11	8	17	1	2	0	1	0	1	0	6	0	5	0	6	3	0	2	6	3	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:35923059G>A	ENST00000490799.1	-	17	2455	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	SLC26A8_ENST00000394602.2_Missense_Mutation_p.A596V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.A701V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGCTTTCCGCCACATCAGG	0.502																																																	0													171	164	166					6																	35923059		2203	4300	6503	SO:0001583	missense	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2102C>T	6.37:g.35923059G>A	ENSP00000417638:p.Ala701Val			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.A701V	ENST00000490799.1	37	c.2102	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736714	0.30774	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95205	-3.31;-3.64;-3.31	4.25	-2.79	0.05841	Sulphate transporter/antisigma-factor antagonist STAS (3);	3.220400	0.00604	N	0.000383	D	0.82268	0.5000	L	0.42245	1.32	0.09310	N	1	P;D;D	0.57899	0.919;0.981;0.958	B;B;B	0.41412	0.278;0.356;0.281	T	0.76929	-0.2777	10	0.49607	T	0.09	.	0.6772	0.00869	0.1896:0.2875:0.2307:0.2921	.	701;596;283	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	701;596;701	ENSP00000417638:A701V;ENSP00000378100:A596V;ENSP00000347778:A701V	ENSP00000347778:A701V	A	-	2	0	SLC26A8	36031037	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.722000	0.04958	-0.350000	0.08262	-1.130000	0.01982	GCG	SLC26A8	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	ENSG00000112053		0.502	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0	63	0	G			35923059	-1	tier1	-	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	7.25	64	5	SNP	0.000	A	A	35923059	G	A	35923059	3	1	77	1	0	0	0	0	1	0	0	0	14568	1087	38	1	826	1	SLC26A8	6	35923059	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	3125328	35923059	135192008	104	20171											
TCTE1	202500	genome.wustl.edu	37	chr6	44254036	44254036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccgcagggtctgtggTgcctgggataaagtgcttta	8	11	14	8	1	2	0	1	0	1	0	2	2	2	1	2	3	2	2	2	3	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:44254036T>C	ENST00000371505.4	-	3	633	c.511A>G	c.(511-513)Acc>Gcc	p.T171A	TCTE1_ENST00000371503.3_Missense_Mutation_p.T18A|TCTE1_ENST00000371504.1_Missense_Mutation_p.T18A|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	171										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGTCTGTGGTGCCTGGGATA	0.642																																																	0													49	39	43					6																	44254036		2203	4300	6503	SO:0001583	missense	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.511A>G	6.37:g.44254036T>C	ENSP00000360560:p.Thr171Ala		B4DX59|Q8IYS6	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.T171A	ENST00000371505.4	37	c.511	CCDS4910.1	6	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328252	0.41197	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.46451	1.99;0.87;0.87	5.0	3.8	0.43715	.	0.342143	0.33813	N	0.004536	T	0.19287	0.0463	M	0.79475	2.455	0.36435	D	0.865115	P	0.39282	0.666	B	0.27380	0.079	T	0.05616	-1.0874	10	0.41790	T	0.15	-35.119	5.7274	0.18020	0.15:0.079:0.0:0.7709	.	171	Q5JU00	TCTE1_HUMAN	A	171;18;18	ENSP00000360560:T171A;ENSP00000360558:T18A;ENSP00000360559:T18A	ENSP00000360558:T18A	T	-	1	0	TCTE1	44362014	0.896000	0.30565	0.746000	0.31095	0.619000	0.37552	1.381000	0.34362	0.715000	0.32103	0.379000	0.24179	ACC	TCTE1	-	NULL	ENSG00000146221		0.642	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	-	0	44	0	T	NM_182539		44254036	-1	tier1	-	no_errors	ENST00000371505	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.991	C	C	44254036	T	C	44254036	3	2	77	1	0	0	0	0	1	0	0	0	15764	1696	59	4	1006	4	TCTE1	6	44254036	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	8330977	44254036	126861031	105	20172											
MCM3	4172	genome.wustl.edu	37	chr6	52149415	52149415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcgtccaggaagtccaGgtaatctctctgagcctccc	7	10	9	15	2	2	1	0	1	2	0	8	2	5	2	4	2	1	1	4	2	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:52149415G>T	ENST00000229854.7	-	1	134	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	MCM3_ENST00000419835.2_Silent_p.T11T|MCM3_ENST00000596288.1_Missense_Mutation_p.L65M			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	20					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AGGAAGTCCAGGTAATCTCTC	0.697																																																	0													36	35	35					6																	52149415		2203	4300	6503	SO:0001583	missense	0			X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"minichromosome maintenance deficient (S. cerevisiae) 3", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.58C>A	6.37:g.52149415G>T	ENSP00000229854:p.Leu20Met		B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_Mcm3	p.L65M	ENST00000229854.7	37	c.193		6	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006563	0.54361	.	.	ENSG00000112118	ENST00000229854	T	0.05717	3.4	5.36	2.55	0.30701	Nucleic acid-binding, OB-fold-like (1);	0.071702	0.56097	D	0.000026	T	0.05777	0.0151	M	0.81802	2.56	0.80722	D	1	P	0.41498	0.752	B	0.42163	0.378	T	0.09443	-1.0674	10	0.49607	T	0.09	-10.9905	10.3909	0.44168	0.2177:0.0:0.7823:0.0	.	20	P25205	MCM3_HUMAN	M	20	ENSP00000229854:L20M	ENSP00000229854:L20M	L	-	1	2	MCM3	52257374	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	1.916000	0.39986	0.809000	0.34255	-0.150000	0.13652	CTG	MCM3	-	superfamily_NA-bd_OB-fold	ENSG00000112118		0.697	MCM3-006	KNOWN	basic|appris_principal	protein_coding	MCM3	HGNC	protein_coding	OTTHUMT00000470784.1		0	52	0	G			52149415	-1			no_errors	ENST00000596288	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	52149415	G	T	52149415	3	4	77	1	0	0	0	0	1	0	0	0	9425	991	35	3	2436	3	MCM3	6	52149415	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	7895379	52149415	118965652	106	20173											
DST	667	genome.wustl.edu	37	chr6	56376192	56376192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagctatcaactcacGcagttgctataacaaaccaa	14	10	6	11	1	3	0	3	0	0	0	3	0	3	0	1	0	5	5	1	0	6	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:56376192G>C	ENST00000361203.3	-	68	17630	c.17623C>G	c.(17623-17625)Cgt>Ggt	p.R5875G	DST_ENST00000446842.2_Missense_Mutation_p.R5660G|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R3789G|DST_ENST00000244364.6_Missense_Mutation_p.R3572G|DST_ENST00000421834.2_Missense_Mutation_p.R3898G|DST_ENST00000370769.4_Missense_Mutation_p.R5986G|DST_ENST00000370754.5_Missense_Mutation_p.R6164G|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5875					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCAACTCACGCAGTTGCTAT	0.448																																																	0													47	44	45					6																	56376192		1917	4135	6052	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17623C>G	6.37:g.56376192G>C	ENSP00000354508:p.Arg5875Gly		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R6164G	ENST00000361203.3	37	c.18490		6	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948377	0.53186	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.63	5.63	0.86233	.	0.000000	0.40640	N	0.001058	T	0.66208	0.2766	M	0.81682	2.555	0.33813	D	0.628116	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.98	T	0.63152	-0.6701	9	0.34782	T	0.22	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	3898;5986;6164;5984;3572	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	G	3572;6164;5986;3898;5660;3789;5875	ENSP00000244364:R3572G;ENSP00000359790:R6164G;ENSP00000359805:R5986G;ENSP00000400883:R3898G;ENSP00000393645:R5660G;ENSP00000359824:R3789G;ENSP00000354508:R5875G	ENSP00000244364:R3572G	R	-	1	0	DST	56484151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.388000	0.73195	2.652000	0.90054	0.655000	0.94253	CGT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	44	0	G	NM_001723		56376192	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	C	C	56376192	G	C	56376192	3	2	77	1	0	0	0	0	1	0	0	0	4797	1087	38	5	4925	5	DST	6	56376192	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	4226777	56376192	114738875	107	20174											
EYS	346007	genome.wustl.edu	37	chr6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcaggctcagaatgaCgattgatttgtcagtcattt	12	13	8	8	1	4	3	4	2	0	1	4	4	4	3	1	1	1	1	1	1	2	3	rs377622148		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:66205285C>T	ENST00000370621.3	-	4	545	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_ENST00000503581.1_Missense_Mutation_p.V7I|EYS_ENST00000370616.2_Missense_Mutation_p.V7I|EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	7					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368																																																	0								T	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	62	60	61		19,19,19	0.5	0	6		61	1,8599	817.6+/-406.9	0,1,4299	no	missense,missense,missense	EYS	NM_198283.1,NM_001142801.1,NM_001142800.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	7/595,7/620,7/3145	66205285	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.19G>A	6.37:g.66205285C>T	ENSP00000359655:p.Val7Ile		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.V7I	ENST00000370621.3	37	c.19		6	.	.	.	.	.	.	.	.	.	.	T	0.403	-0.917481	0.02396	0.0	1.16E-4	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89810	-1.59;-1.57;-1.57;-2.57;-2.52;-2.52	4.48	0.519	0.17035	.	.	.	.	.	T	0.45856	0.1363	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.45687	-0.9244	9	0.05721	T	0.95	.	3.4454	0.07478	0.1922:0.3504:0.0:0.4574	.	7;7;7	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	7	ENSP00000424243:V7I;ENSP00000359655:V7I;ENSP00000359650:V7I;ENSP00000377042:V7I;ENSP00000341818:V7I;ENSP00000359652:V7I	ENSP00000341818:V7I	V	-	1	0	EYS	66262006	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.199000	0.09491	-0.412000	0.07519	-1.496000	0.00964	GTC	EYS	-	NULL	ENSG00000188107		0.368	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	54	0	C	XM_294050		66205285	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	67.24	19	39	SNP	0.000	T	T	66205285	C	T	66205285	3	4	77	1	0	0	0	0	1	0	0	0	5348	536	19	1	9537	1	EYS	6	66205285	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	9829093	66205285	104909782	108	20175											
CD109	135228	genome.wustl.edu	37	chr6	74513012	74513012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgggaattatgacccttCtgggagcacttggtaagtgt	8	15	12	6	0	1	1	0	1	1	0	1	3	1	3	1	3	1	2	1	3	3	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:74513012C>G	ENST00000287097.5	+	24	3060	c.2948C>G	c.(2947-2949)tCt>tGt	p.S983C	CD109_ENST00000422508.2_Missense_Mutation_p.S906C|CD109_ENST00000437994.2_Missense_Mutation_p.S983C|CD109_ENST00000474094.1_3'UTR			Q6YHK3	CD109_HUMAN	CD109 molecule	983					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATGACCCTTCTGGGAGCACT	0.418																																																	0													129	117	121					6																	74513012		2203	4300	6503	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2948C>G	6.37:g.74513012C>G	ENSP00000287097:p.Ser983Cys		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S983C	ENST00000287097.5	37	c.2948	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760631	0.49468	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.35048	1.33;1.33;1.33	4.18	4.18	0.49190	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.580990	0.18549	N	0.137943	T	0.53706	0.1813	M	0.85462	2.755	0.43652	D	0.996068	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.992	T	0.60000	-0.7348	10	0.87932	D	0	.	10.6925	0.45879	0.0:0.9118:0.0:0.0882	.	906;983;983	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	C	983;906;983	ENSP00000388062:S983C;ENSP00000404475:S906C;ENSP00000287097:S983C	ENSP00000287097:S983C	S	+	2	0	CD109	74569733	1.000000	0.71417	0.999000	0.59377	0.399000	0.30720	5.185000	0.65076	2.319000	0.78375	0.655000	0.94253	TCT	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.418	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0	57	0	C	NM_133493		74513012	1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	G	G	74513012	C	G	74513012	3	3	77	1	0	0	0	0	1	0	0	0	2970	913	32	5	3042	5	CD109	6	74513012	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	8307727	74513012	96602055	109	20176											
MDN1	23195	genome.wustl.edu	37	chr6	90392997	90392997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctccaccagggatgaccGgcagggttcactcaggactg	9	7	12	13	1	3	1	2	1	1	0	4	3	3	3	3	4	0	2	3	4	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:90392997G>A	ENST00000369393.3	-	73	12071	c.11956C>T	c.(11956-11958)Cgg>Tgg	p.R3986W	MDN1_ENST00000428876.1_Missense_Mutation_p.R3986W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3986			R -> L (in dbSNP:rs17293121).		ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGGATGACCGGCAGGGTTCA	0.453																																																	0													71	64	66					6																	90392997		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11956C>T	6.37:g.90392997G>A	ENSP00000358400:p.Arg3986Trp		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R3986W	ENST00000369393.3	37	c.11956	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743690	0.49151	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.44881	0.91;0.91	5.7	4.75	0.60458	.	0.493902	0.21296	N	0.076889	T	0.37237	0.0996	M	0.65975	2.015	0.24986	N	0.991564	D	0.65815	0.995	P	0.47528	0.549	T	0.23404	-1.0189	10	0.62326	D	0.03	.	15.4976	0.75666	0.0:0.0:0.7722:0.2278	.	3986	Q9NU22	MDN1_HUMAN	W	3986	ENSP00000358400:R3986W;ENSP00000413970:R3986W	ENSP00000358400:R3986W	R	-	1	2	MDN1	90449718	0.990000	0.36364	1.000000	0.80357	0.980000	0.70556	1.894000	0.39768	2.701000	0.92244	0.561000	0.74099	CGG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.453	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	74	0	G			90392997	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	52.04	47	51	SNP	0.997	A	A	90392997	G	A	90392997	3	1	77	1	0	0	0	0	1	0	0	0	9453	1115	39	1	4954	1	MDN1	6	90392997	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	15879985	90392997	80722070	110	20177											
COQ3	51805	genome.wustl.edu	37	chr6	99842037	99842037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaacccccggaggagcccaGcttacggccactccacatcg	9	4	9	19	3	0	0	0	0	0	0	2	2	1	2	6	3	4	1	6	3	2	1	rs201037643	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:99842037G>T	ENST00000254759.3	-	1	43	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	COQ3_ENST00000479163.1_5'UTR|COQ3_ENST00000369242.1_De_novo_Start_InFrame	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	7					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		GAGGAGCCCAGCTTACGGCCA	0.552																																																	0													45	47	46					6																	99842037		2203	4300	6503	SO:0001583	missense	0			AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"polyprenyldihydroxybenzoate methyltransferase"	605196	"coenzyme Q3 homolog, methyltransferase (yeast)", "coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.19C>A	6.37:g.99842037G>T	ENSP00000254759:p.Leu7Met		B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase	p.L7M	ENST00000254759.3	37	c.19	CCDS5042.1	6	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874940	0.51695	.	.	ENSG00000132423	ENST00000254759	T	0.32988	1.43	4.09	1.19	0.21007	.	0.126276	0.31936	N	0.006832	T	0.05960	0.0155	L	0.27053	0.805	0.20489	N	0.999892	P	0.34977	0.478	B	0.27608	0.081	T	0.18335	-1.0340	10	0.87932	D	0	-12.7192	4.5854	0.12280	0.1057:0.0:0.5028:0.3915	.	7	Q9NZJ6	COQ3_HUMAN	M	7	ENSP00000254759:L7M	ENSP00000254759:L7M	L	-	1	2	COQ3	99948758	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	0.001000	0.13038	0.244000	0.21351	0.561000	0.74099	CTG	COQ3	-	NULL	ENSG00000132423		0.552	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ3	HGNC	protein_coding	OTTHUMT00000041602.1	-	0	51	0	G	NM_017421		99842037	-1	tier1	-	no_errors	ENST00000254759	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.003	T	T	99842037	G	T	99842037	3	4	77	1	0	0	0	0	1	0	0	0	3753	962	34	3	1118	3	COQ3	6	99842037	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	9449040	99842037	71273030	111	20178											
SFRS18	25957	genome.wustl.edu	37	chr6	99857222	99857222	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaaagcagccccatgcTgaaagagtattgcagtttat	14	9	9	9	0	0	2	0	1	0	1	0	3	0	2	3	0	4	5	3	0	5	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:99857222T>C	ENST00000369239.5	-	6	706		c.e6-2		PNISR_ENST00000466057.1_5'Flank|PNISR_ENST00000438806.1_Splice_Site	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGCCCCATGCTGAAAGAGTAT	0.458																																																	1	Unknown(1)	lung(1)											71	74	73					6																	99857222		2203	4300	6503	SO:0001630	splice_region_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.502-2A>G	6.37:g.99857222T>C			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Splice_Site	SNP	-	e4-2	ENST00000369239.5	37	c.502-2	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303430	0.60195	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.275	0.82640	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNISR	99963943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.705000	0.74644	2.248000	0.74166	0.477000	0.44152	.	PNISR	-	-	ENSG00000132424		0.458	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1		0	11	0	T	NM_032870	Intron	99857222	-1			no_errors	ENST00000369239	ensembl	human	known	74_37	splice_site	9.52	19	2	SNP	1.000	C	C	99857222	T	C	99857222	5	2	77	1	0	0	0	0	0	0	1	0	14219	1594	55	4	1945	4	SFRS18	6	99857222	Splice_Site	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	15185	99857222	71257845	112	20179											
MCM9	254394	genome.wustl.edu	37	chr6	119243235	119243235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagatcgtggaatacttccaAcagatagcctttgaacctag	13	11	8	9	1	0	3	0	1	0	2	2	4	1	4	3	1	4	0	3	1	7	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:119243235A>T	ENST00000316316.6	-	4	924	c.638T>A	c.(637-639)gTt>gAt	p.V213D	MCM9_ENST00000316068.3_Missense_Mutation_p.V213D	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	213					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AATACTTCCAACAGATAGCCT	0.348																																																	0													147	139	142					6																	119243235		2203	4300	6503	SO:0001583	missense	0			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.638T>A	6.37:g.119243235A>T	ENSP00000314505:p.Val213Asp		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.V213D	ENST00000316316.6	37	c.638	CCDS56447.1	6	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871209	0.72065	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.04406	3.63;3.63	5.58	5.58	0.84498	.	.	.	.	.	T	0.05777	0.0151	M	0.64997	1.995	0.80722	D	1	P	0.46706	0.883	P	0.46172	0.506	T	0.25293	-1.0136	9	0.44086	T	0.13	.	16.0334	0.80603	1.0:0.0:0.0:0.0	.	213	Q9NXL9-2	.	D	213	ENSP00000314505:V213D;ENSP00000312870:V213D	ENSP00000312870:V213D	V	-	2	0	MCM9	119284934	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.475000	0.90417	2.243000	0.73865	0.533000	0.62120	GTT	MCM9	-	superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase	ENSG00000111877		0.348	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4	-	0	80	0	A	NM_153255		119243235	-1	tier1	-	no_errors	ENST00000316316	ensembl	human	known	74_37	missense	39.44	43	28	SNP	1.000	T	T	119243235	A	T	119243235	3	4	77	1	0	0	0	0	1	0	0	0	9432	43	2	5	553	5	MCM9	6	119243235	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	19386013	119243235	51871832	113	20180											
NCOA7	135112	genome.wustl.edu	37	chr6	126242133	126242133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaagagcacatgcagCtactatgaagacgaggacga	15	4	13	9	3	0	3	0	1	0	2	0	7	0	5	0	2	4	4	0	2	4	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:126242133C>T	ENST00000368357.3	+	13	2641	c.2289C>T	c.(2287-2289)agC>agT	p.S763S	NCOA7_ENST00000229634.9_Silent_p.S648S|NCOA7_ENST00000392477.2_Silent_p.S763S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	763					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GCACATGCAGCTACTATGAAG	0.512																																																	0													82	74	77					6																	126242133		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2289C>T	6.37:g.126242133C>T			B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Silent	SNP	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.S763	ENST00000368357.3	37	c.2289	CCDS5132.1	6																																																																																			NCOA7	-	NULL	ENSG00000111912		0.512	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	HGNC	protein_coding	OTTHUMT00000042083.4		0	21	0	C	XM_059748		126242133	1			no_errors	ENST00000368357	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.985	T	T	126242133	C	T	126242133	2	4	77	1	0	0	0	0	0	0	0	1	10273	796	28	3		3	NCOA7	6	126242133	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	6998898	126242133	44872934	114	20181											
TBPL1	9519	genome.wustl.edu	37	chr6	134305574	134305574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtaacatgccatttgaaAtccgtttgccagaattcaca	12	13	7	9	1	1	2	1	1	0	1	2	2	2	2	3	0	3	2	3	0	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:134305574A>G	ENST00000237264.4	+	5	618	c.343A>G	c.(343-345)Atc>Gtc	p.I115V	TBPL1_ENST00000367871.1_Missense_Mutation_p.I115V|TBPL1_ENST00000477527.1_Intron	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	115					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		GCCATTTGAAATCCGTTTGCC	0.313																																																	0													68	66	67					6																	134305574		2203	4300	6503	SO:0001583	missense	0			AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.343A>G	6.37:g.134305574A>G	ENSP00000237264:p.Ile115Val		A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.I115V	ENST00000237264.4	37	c.343	CCDS5168.1	6	.	.	.	.	.	.	.	.	.	.	A	18.03	3.533365	0.64972	.	.	ENSG00000028839	ENST00000416965;ENST00000367871;ENST00000237264	.	.	.	5.93	5.93	0.95920	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.64997	1.995	0.80722	D	1	B	0.27229	0.172	B	0.33620	0.167	T	0.60229	-0.7304	9	0.72032	D	0.01	-7.5412	15.6133	0.76744	1.0:0.0:0.0:0.0	.	115	P62380	TBPL1_HUMAN	V	115	.	ENSP00000237264:I115V	I	+	1	0	TBPL1	134347267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.156000	0.77453	2.281000	0.76405	0.529000	0.55759	ATC	TBPL1	-	pfam_TBP,prints_TBP	ENSG00000028839		0.313	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL1	HGNC	protein_coding	OTTHUMT00000042294.2	-	0	180	0	A			134305574	1	tier1	-	no_errors	ENST00000237264	ensembl	human	known	74_37	missense	8.54	182	17	SNP	1.000	G	G	134305574	A	G	134305574	3	3	77	1	0	0	0	0	1	0	0	0	15692	101	4	4	357	4	TBPL1	6	134305574	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	8063441	134305574	36809493	115	20182											
NUP43	348995	genome.wustl.edu	37	chr6	150052823	150052823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagggatccatcttcagagCaggtaaaaagatgttctggg	13	9	13	6	0	3	3	1	0	2	3	4	4	4	4	1	3	1	3	1	3	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:150052823C>T	ENST00000340413.2	-	7	915	c.839G>A	c.(838-840)tGc>tAc	p.C280Y	NUP43_ENST00000367404.4_Missense_Mutation_p.C184Y|NUP43_ENST00000460354.2_Missense_Mutation_p.C280Y|NUP43_ENST00000367403.3_3'UTR	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	280					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ATCTTCAGAGCAGGTAAAAAG	0.423																																																	0													122	111	115					6																	150052823		2203	4300	6503	SO:0001583	missense	0			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"WD repeat domain containing"	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.839G>A	6.37:g.150052823C>T	ENSP00000342262:p.Cys280Tyr		B4E2F0|Q9H8S0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C280Y	ENST00000340413.2	37	c.839	CCDS5218.1	6	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955188	0.92726	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367404	T;T;T	0.61274	0.12;0.12;0.12	5.75	5.75	0.90469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78175	0.4242	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81077	-0.1096	10	0.87932	D	0	-17.8277	19.9405	0.97159	0.0:1.0:0.0:0.0	.	184;280	B4E2F0;Q8NFH3	.;NUP43_HUMAN	Y	280;280;184	ENSP00000342262:C280Y;ENSP00000432401:C280Y;ENSP00000356374:C184Y	ENSP00000342262:C280Y	C	-	2	0	NUP43	150094516	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.380000	0.79704	2.708000	0.92522	0.655000	0.94253	TGC	NUP43	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000120253		0.423	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP43	HGNC	protein_coding	OTTHUMT00000396947.1	-	0	102	0	C	NM_198887		150052823	-1	tier1	-	no_errors	ENST00000340413	ensembl	human	known	74_37	missense	15.89	90	17	SNP	1.000	T	T	150052823	C	T	150052823	3	4	77	1	0	0	0	0	1	0	0	0	10804	710	25	3	311	3	NUP43	6	150052823	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	15747249	150052823	21062244	116	20183											
TULP4	56995	genome.wustl.edu	37	chr6	158902309	158902309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcatggacccgcggacaGatagcaaaccaggtgggccc	11	5	12	13	2	2	1	2	0	0	1	2	3	2	3	3	4	2	1	3	4	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr6:158902309G>A	ENST00000367097.3	+	8	2831	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	TULP4_ENST00000367094.2_Missense_Mutation_p.D492N	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	492					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCGCGGACAGATAGCAAACC	0.602																																																	0													27	28	27					6																	158902309		2203	4300	6503	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.1474G>A	6.37:g.158902309G>A	ENSP00000356064:p.Asp492Asn		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D492N	ENST00000367097.3	37	c.1474	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.164261	0.94727	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.62364	0.03;0.87	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.997;0.998;1.0	D;D;D	0.85130	0.98;0.991;0.997	T	0.58014	-0.7711	10	0.21014	T	0.42	-28.0173	18.9788	0.92747	0.0:0.0:1.0:0.0	.	492;492;492	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	N	492	ENSP00000356064:D492N;ENSP00000356061:D492N	ENSP00000356061:D492N	D	+	1	0	TULP4	158822297	1.000000	0.71417	0.566000	0.28421	0.831000	0.47069	9.275000	0.95738	2.491000	0.84063	0.561000	0.74099	GAT	TULP4	-	NULL	ENSG00000130338		0.602	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0	51	0	G	NM_020245		158902309	1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	missense	20.63	50	13	SNP	1.000	A	A	158902309	G	A	158902309	3	1	77	1	0	0	0	0	1	0	0	0	16825	942	33	3	1504	3	TULP4	6	158902309	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	8849486	158902309	12212758	117	20184											
BZW2	28969	genome.wustl.edu	37	chr7	16737803	16737803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaagattgtggttctctTttataaaggtatccatccac	11	15	7	8	0	2	2	1	0	1	2	5	2	4	2	2	2	0	2	2	2	5	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:16737803T>C	ENST00000433922.2	+	10	1278	c.1100T>C	c.(1099-1101)tTt>tCt	p.F367S	AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Missense_Mutation_p.F291S|BZW2_ENST00000407633.1_Missense_Mutation_p.F173S|BZW2_ENST00000258761.3_Missense_Mutation_p.F367S	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	367	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GTGGTTCTCTTTTATAAAGGT	0.493																																																	0													151	149	150					7																	16737803		2203	4300	6503	SO:0001583	missense	0			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1100T>C	7.37:g.16737803T>C	ENSP00000397249:p.Phe367Ser		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.F367S	ENST00000433922.2	37	c.1100	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591731	0.86953	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	6.17	6.17	0.99709	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	D	0.89476	0.6726	M	0.91663	3.23	0.80722	D	1	P;P	0.41748	0.761;0.761	P;P	0.45449	0.481;0.481	D	0.91257	0.5034	10	0.87932	D	0	-15.4519	16.8222	0.85835	0.0:0.0:0.0:1.0	.	367;367	E7ETZ4;Q9Y6E2	.;BZW2_HUMAN	S	367;367;367;291;173	ENSP00000403481:F367S;ENSP00000258761:F367S;ENSP00000397249:F367S;ENSP00000385577:F291S;ENSP00000384617:F173S	ENSP00000258761:F367S	F	+	2	0	BZW2	16704328	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTT	BZW2	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	ENSG00000136261		0.493	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	-	0	33	0	T	NM_014038		16737803	1	tier1	-	no_errors	ENST00000258761	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	C	C	16737803	T	C	16737803	3	2	77	1	0	0	0	0	1	0	0	0	1583	1841	64	4	1134	4	BZW2	7	16737803	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09		16737803	142400860	118	20185											
DNAH11	8701	genome.wustl.edu	37	chr7	21784569	21784569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaggacccacattacatgCcagtgaaggactgggaagtg	13	6	14	8	0	0	1	0	1	0	0	0	5	0	5	2	4	2	0	2	4	4	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:21784569C>T	ENST00000409508.3	+	51	8429	c.8398C>T	c.(8398-8400)Cca>Tca	p.P2800S	DNAH11_ENST00000328843.6_Missense_Mutation_p.P2807S	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2807					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACATTACATGCCAGTGAAGGA	0.443									Kartagener syndrome																																								0													99	93	95					7																	21784569		1997	4166	6163	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8398C>T	7.37:g.21784569C>T	ENSP00000475939:p.Pro2800Ser		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P2807S	ENST00000409508.3	37	c.8419		7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439195	0.83885	.	.	ENSG00000105877	ENST00000328843	T	0.24151	1.87	5.4	5.4	0.78164	.	0.113336	0.64402	D	0.000011	T	0.44582	0.1300	.	.	.	0.58432	D	0.999997	D	0.67145	0.996	P	0.58266	0.836	T	0.16988	-1.0384	9	0.36615	T	0.2	.	17.7528	0.88440	0.0:1.0:0.0:0.0	.	2807	Q96DT5	DYH11_HUMAN	S	2807	ENSP00000330671:P2807S	ENSP00000330671:P2807S	P	+	1	0	DNAH11	21751094	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	7.465000	0.80898	2.538000	0.85594	0.655000	0.94253	CCA	DNAH11	-	superfamily_P-loop_NTPase	ENSG00000105877		0.443	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	70	0	C	NM_003777		21784569	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	21784569	C	T	21784569	3	4	77	1	0	0	0	0	1	0	0	0	4613	739	26	3	8622	3	DNAH11	7	21784569	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	5046766	21784569	137354094	119	20186											
CREB5	9586	genome.wustl.edu	37	chr7	28843966	28843966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcatcagcaccagacactgCcaccccatcacccttaccca	11	5	4	21	1	2	1	2	0	0	1	2	1	2	1	6	0	3	2	6	0	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:28843966C>T	ENST00000357727.2	+	8	1243	c.853C>T	c.(853-855)Cca>Tca	p.P285S	CREB5_ENST00000396300.2_Missense_Mutation_p.P278S|CREB5_ENST00000396298.2_Missense_Mutation_p.P146S|CREB5_ENST00000409603.1_Missense_Mutation_p.P252S|CREB5_ENST00000396299.2_Missense_Mutation_p.P252S	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	285					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ccagacactgccaccccatca	0.592																																																	0													598	355	438					7																	28843966		2203	4300	6503	SO:0001583	missense	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"basic leucine zipper proteins"	16844	protein-coding gene	gene with protein product	"cAMP response element binding protein CRE-Bpa"					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.853C>T	7.37:g.28843966C>T	ENSP00000350359:p.Pro285Ser		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.P285S	ENST00000357727.2	37	c.853	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032253	0.54790	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.66460	-0.17;-0.16;-0.15;-0.17;-0.21	5.39	5.39	0.77823	.	0.163320	0.56097	D	0.000038	T	0.55862	0.1947	L	0.43152	1.355	0.48762	D	0.999703	B;B	0.28378	0.027;0.209	B;B	0.18263	0.005;0.021	T	0.53019	-0.8497	10	0.12103	T	0.63	-11.0606	16.2535	0.82498	0.0:0.8675:0.1325:0.0	.	146;285	B4DU13;Q02930	.;CREB5_HUMAN	S	252;285;278;252;111;146	ENSP00000379593:P252S;ENSP00000350359:P285S;ENSP00000379594:P278S;ENSP00000387197:P252S;ENSP00000379592:P146S	ENSP00000350359:P285S	P	+	1	0	CREB5	28810491	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.475000	0.81041	2.555000	0.86185	0.478000	0.44815	CCA	CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.592	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4		0	68	0	C	NM_004904		28843966	1			no_errors	ENST00000357727	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	28843966	C	T	28843966	3	4	77	1	0	0	0	0	1	0	0	0	3867	739	26	3	934	3	CREB5	7	28843966	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	7059397	28843966	130294697	120	20187											
CDK13	8621	genome.wustl.edu	37	chr7	40134379	40134379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagtgacccttccacggggCcagagagtactcatcctttg	8	9	11	13	1	1	2	1	1	0	1	3	3	3	2	4	2	1	2	4	2	1	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:40134379C>T	ENST00000181839.4	+	14	4944	c.4339C>T	c.(4339-4341)Cca>Tca	p.P1447S	CDK13_ENST00000340829.5_Missense_Mutation_p.P1387S	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1447					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTCCACGGGGCCAGAGAGTAC	0.493																																																	0													108	92	97					7																	40134379		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4339C>T	7.37:g.40134379C>T	ENSP00000181839:p.Pro1447Ser		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P1447S	ENST00000181839.4	37	c.4339	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	9.474	1.096299	0.20552	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.44881	0.91;0.91	5.13	5.13	0.70059	.	.	.	.	.	T	0.38295	0.1035	L	0.42245	1.32	0.33636	D	0.60664	P;B	0.36282	0.546;0.075	B;B	0.39119	0.291;0.015	T	0.51301	-0.8723	8	.	.	.	-8.1367	13.0214	0.58789	0.0:0.9223:0.0:0.0777	.	1387;1447	Q14004-2;Q14004	.;CDK13_HUMAN	S	1447;1387	ENSP00000181839:P1447S;ENSP00000340557:P1387S	.	P	+	1	0	CDK13	40100904	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.225000	0.42954	2.409000	0.81822	0.650000	0.86243	CCA	CDK13	-	NULL	ENSG00000065883		0.493	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2		0	56	0	C	NM_003718		40134379	1			no_errors	ENST00000181839	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	40134379	C	T	40134379	3	4	77	1	0	0	0	0	1	0	0	0	3136	739	26	3	4393	3	CDK13	7	40134379	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	11290413	40134379	119004284	121	20188											
ZNF107	51427	genome.wustl.edu	37	chr7	64167664	64167664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctaatggaagagaaacccTacaaatgtgaagaatgtggc	16	9	10	6	0	1	3	0	1	1	2	1	5	1	4	1	2	2	0	1	2	7	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:64167664T>A	ENST00000395391.1	+	4	2357	c.982T>A	c.(982-984)Tac>Aac	p.Y328N	ZNF107_ENST00000423627.1_Missense_Mutation_p.Y328N|ZNF107_ENST00000344930.3_Missense_Mutation_p.Y328N			Q9UII5	ZN107_HUMAN	zinc finger protein 107	328					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAGAAACCCTACAAATGTGA	0.348																																																	0													30	33	32					7																	64167664		2177	4272	6449	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.982T>A	7.37:g.64167664T>A	ENSP00000378789:p.Tyr328Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y328N	ENST00000395391.1	37	c.982	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	15.17	2.754529	0.49362	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.34859	1.34;1.34;1.34	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34395	0.0896	M	0.82923	2.615	0.31687	N	0.642408	P	0.41748	0.761	B	0.34242	0.178	T	0.46261	-0.9204	8	.	.	.	.	6.2392	0.20780	0.0:0.0:0.0:1.0	.	328	Q9UII5	ZN107_HUMAN	N	328	ENSP00000343443:Y328N;ENSP00000400037:Y328N;ENSP00000378789:Y328N	.	Y	+	1	0	ZNF107	63805099	0.000000	0.05858	0.011000	0.14972	0.147000	0.21601	0.754000	0.26390	0.530000	0.28619	0.260000	0.18958	TAC	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	-	0	95	0	T	NM_016220		64167664	1	tier1	-	no_errors	ENST00000344930	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.946	A	A	64167664	T	A	64167664	3	1	77	1	0	0	0	0	1	0	0	0	17763	1522	53	5	988	5	ZNF107	7	64167664	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	24033285	64167664	94970999	122	20189											
FZD9	8326	genome.wustl.edu	37	chr7	72849721	72849721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggtgcccgccacctgcGtcatcgtttgctatgtctac	6	11	9	15	4	2	0	1	0	1	0	3	0	2	0	3	1	4	2	3	1	2	3	rs371067074		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:72849721G>A	ENST00000344575.3	+	1	1613	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	462					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCCACCTGCGTCATCGTTTG	0.622																																					Pancreas(144;909 1878 36867 38226 39554)												0								G	ILE/VAL	0,4404		0,0,2202	61	61	61		1384	4.5	1	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	FZD9	NM_003508.2	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	462/592	72849721	1,13003	2202	4300	6502	SO:0001583	missense	0			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1384G>A	7.37:g.72849721G>A	ENSP00000345785:p.Val462Ile			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.V462I	ENST00000344575.3	37	c.1384	CCDS5548.1	7	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254570	0.39896	0.0	1.16E-4	ENSG00000188763	ENST00000344575	D	0.83755	-1.76	4.47	4.47	0.54385	GPCR, family 2-like (1);	0.078160	0.51477	U	0.000096	D	0.86439	0.5933	M	0.72118	2.19	0.49915	D	0.99983	D	0.54047	0.964	P	0.55391	0.775	D	0.86482	0.1792	10	0.49607	T	0.09	.	10.1938	0.43043	0.0928:0.0:0.9072:0.0	.	462	O00144	FZD9_HUMAN	I	462	ENSP00000345785:V462I	ENSP00000345785:V462I	V	+	1	0	FZD9	72487657	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	8.004000	0.88535	2.189000	0.69895	0.563000	0.77884	GTC	FZD9	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000188763		0.622	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD9	HGNC	protein_coding	OTTHUMT00000252120.1	-	0	102	0	G			72849721	1	tier1	-	no_errors	ENST00000344575	ensembl	human	known	74_37	missense	41.41	58	41	SNP	1.000	A	A	72849721	G	A	72849721	3	1	77	1	0	0	0	0	1	0	0	0	6161	1145	40	1	1386	1	FZD9	7	72849721	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	8682057	72849721	86288942	123	20190											
ZCWPW1	55063	genome.wustl.edu	37	chr7	99999532	99999532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggctggtcagaatctgaaTtcccttggccttctttcctt	5	16	8	12	0	3	2	1	1	2	1	5	2	5	2	3	3	0	1	3	3	2	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:99999532T>C	ENST00000398027.2	-	17	1851	c.1604A>G	c.(1603-1605)aAt>aGt	p.N535S	ZCWPW1_ENST00000490721.1_Intron|ZCWPW1_ENST00000324725.6_Intron|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	535							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGAATCTGAATTCCCTTGGCC	0.512																																																	0													114	113	113					7																	99999532		1928	4138	6066	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1604A>G	7.37:g.99999532T>C	ENSP00000381109:p.Asn535Ser		A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.N535S	ENST00000398027.2	37	c.1604	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.19|14.19	2.461635|2.461635	0.43736|0.43736	.|.	.|.	ENSG00000233389|ENSG00000078487	ENST00000449355|ENST00000398027	.|T	.|0.64085	.|-0.08	5.0|5.0	1.17|1.17	0.20885|0.20885	.|.	.|.	.|.	.|.	.|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B	.|0.34103	.|0.437;0.437	.|B;B	.|0.27380	.|0.079;0.079	T|T	0.15150|0.15150	-1.0447|-1.0447	5|8	.|.	.|.	.|.	-0.3901|-0.3901	5.3889|5.3889	0.16234|0.16234	0.0:0.0909:0.3471:0.5619|0.0:0.0909:0.3471:0.5619	.|.	.|496;535	.|B4DXS7;Q9H0M4	.|.;ZCPW1_HUMAN	L|S	84|535	.|ENSP00000381109:N535S	.|.	F|N	+|-	1|2	0|0	AC005071.3|ZCWPW1	99837468|99837468	0.051000|0.051000	0.20477|0.20477	0.001000|0.001000	0.08648|0.08648	0.610000|0.610000	0.37248|0.37248	1.177000|1.177000	0.31969|0.31969	0.109000|0.109000	0.17891|0.17891	0.533000|0.533000	0.62120|0.62120	TTC|AAT	ZCWPW1	-	NULL	ENSG00000078487		0.512	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	-	0	53	0	T	NM_017984		99999532	-1	tier1	-	no_errors	ENST00000398027	ensembl	human	known	74_37	missense	22.22	49	14	SNP	0.002	C	C	99999532	T	C	99999532	3	2	77	1	0	0	0	0	1	0	0	0	17645	1493	52	4	350	4	ZCWPW1	7	99999532	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	27149811	99999532	59139131	124	20191											
SMO	6608	genome.wustl.edu	37	chr7	128845112	128845112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccttggttcggacagacaaCcccaagagctggtacgagga	11	6	12	12	2	0	2	0	0	0	2	1	5	0	4	3	4	3	3	3	4	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:128845112C>A	ENST00000249373.3	+	3	886	c.606C>A	c.(604-606)aaC>aaA	p.N202K		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	202					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GGACAGACAACCCCAAGAGCT	0.577			Mis		skin basal cell																																			Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													87	76	80					7																	128845112		2203	4300	6503	SO:0001583	missense	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"GPCR / Class F : Frizzled receptors"	11119	protein-coding gene	gene with protein product	"frizzled family member 11"	601500	"smoothened (Drosophila) homolog", "smoothened homolog (Drosophila)", "smoothened, seven transmembrane spanning receptor", "smoothened, frizzled family receptor"	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.606C>A	7.37:g.128845112C>A	ENSP00000249373:p.Asn202Lys		A4D1K5	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.N202K	ENST00000249373.3	37	c.606	CCDS5811.1	7	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389347	0.61956	.	.	ENSG00000128602	ENST00000249373	T	0.78481	-1.18	5.75	5.75	0.90469	.	0.085210	0.85682	D	0.000000	T	0.80428	0.4621	L	0.58810	1.83	0.58432	D	0.999998	D	0.54207	0.965	P	0.47827	0.558	T	0.80402	-0.1397	10	0.45353	T	0.12	.	18.9302	0.92561	0.0:1.0:0.0:0.0	.	202	Q99835	SMO_HUMAN	K	202	ENSP00000249373:N202K	ENSP00000249373:N202K	N	+	3	2	SMO	128632348	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.546000	0.45778	2.720000	0.93068	0.555000	0.69702	AAC	SMO	-	NULL	ENSG00000128602		0.577	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	-	0	54	0	C	NM_005631		128845112	1	tier1	-	no_errors	ENST00000249373	ensembl	human	known	74_37	missense	16.92	54	11	SNP	1.000	A	A	128845112	C	A	128845112	3	1	77	1	0	0	0	0	1	0	0	0	14845	506	18	3	616	3	SMO	7	128845112	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	28845580	128845112	30293551	125	20192											
EXOC4	60412	genome.wustl.edu	37	chr7	132973832	132973832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaagctggaacagtgcAtggccagcaagcactatctc	13	7	9	12	0	2	0	1	0	1	0	3	1	2	1	1	2	5	4	1	2	5	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:132973832A>G	ENST00000253861.4	+	3	462	c.433A>G	c.(433-435)Atg>Gtg	p.M145V	EXOC4_ENST00000539845.1_Missense_Mutation_p.M44V|EXOC4_ENST00000393161.2_Missense_Mutation_p.M145V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	145					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGAACAGTGCATGGCCAGCAA	0.418																																																	0													86	64	71					7																	132973832		2203	4300	6503	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"SEC8-like 1 (S. cerevisiae)"	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.433A>G	7.37:g.132973832A>G	ENSP00000253861:p.Met145Val		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.M145V	ENST00000253861.4	37	c.433	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	A	17.16	3.317909	0.60524	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000539845	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.71247	0.3317	L	0.54323	1.7	0.80722	D	1	P;P	0.45715	0.865;0.66	P;B	0.57620	0.824;0.102	T	0.66344	-0.5947	9	0.21540	T	0.41	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	145;145	Q96A65;Q8TAR2	EXOC4_HUMAN;.	V	145;145;44	.	ENSP00000253861:M145V	M	+	1	0	EXOC4	132624372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.957000	0.93082	2.225000	0.72522	0.533000	0.62120	ATG	EXOC4	-	NULL	ENSG00000131558		0.418	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	-	0	73	0	A	NM_021807		132973832	1	tier1	-	no_errors	ENST00000253861	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	G	G	132973832	A	G	132973832	3	3	77	1	0	0	0	0	1	0	0	0	5322	217	8	4	443	4	EXOC4	7	132973832	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	4128720	132973832	26164831	126	20193											
CNOT4	4850	genome.wustl.edu	37	chr7	135047814	135047814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctgaagggggcgctgtgGtgggtctgtgatggagcagc	5	9	21	6	1	1	2	0	2	1	0	1	3	1	3	0	5	3	3	0	5	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:135047814G>T	ENST00000451834.1	-	12	2239	c.1956C>A	c.(1954-1956)caC>caA	p.H652Q	CNOT4_ENST00000541284.1_Missense_Mutation_p.H655Q|CNOT4_ENST00000423368.2_Missense_Mutation_p.H584Q|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Missense_Mutation_p.H581Q			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGGCGCTGTGGTGGGTCTGTG	0.582																																					Ovarian(51;766 1130 5502 35047 50875)												0													118	131	127					7																	135047814		2066	4198	6264	SO:0001583	missense	0			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"RNA binding motif (RRM) containing"	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1956C>A	7.37:g.135047814G>T	ENSP00000388491:p.His652Gln		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.H655Q	ENST00000451834.1	37	c.1965	CCDS55167.1	7	.	.	.	.	.	.	.	.	.	.	G	7.062	0.566596	0.13560	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528	T;T;T;T	0.42513	1.01;1.0;0.98;0.97	5.92	3.99	0.46301	.	0.337088	0.36555	N	0.002530	T	0.22742	0.0549	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.11235	0.0;0.0;0.004;0.004	B;B;B;B	0.11329	0.001;0.003;0.006;0.006	T	0.06144	-1.0843	10	0.27785	T	0.31	-3.0626	6.8101	0.23799	0.0684:0.1264:0.6745:0.1307	.	652;655;584;581	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	Q	655;652;584;655;581	ENSP00000445508:H655Q;ENSP00000388491:H652Q;ENSP00000406777:H584Q;ENSP00000354673:H581Q	ENSP00000262563:H655Q	H	-	3	2	CNOT4	134698354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.381000	0.34362	1.482000	0.48325	0.557000	0.71058	CAC	CNOT4	-	NULL	ENSG00000080802		0.582	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CNOT4	HGNC	protein_coding	OTTHUMT00000340670.1		0	73	0	G	NM_013316		135047814	-1			no_errors	ENST00000541284	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	135047814	G	T	135047814	3	4	77	1	0	0	0	0	1	0	0	0	3628	1252	44	3	180	3	CNOT4	7	135047814	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2073982	135047814	24090849	127	20194											
BRAF	673	genome.wustl.edu	37	chr7	140454022	140454022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgtggatgattgacttgGcgtgtaagtaactgaaaaac	12	12	11	6	1	1	3	0	3	1	0	1	4	1	4	0	2	2	2	0	2	4	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:140454022G>T	ENST00000288602.6	-	14	1766	c.1706C>A	c.(1705-1707)gCc>gAc	p.A569D		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	569	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GATTGACTTGGCGTGTAAGTA	0.393		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													156	151	153					7																	140454022		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"v-raf murine sarcoma viral oncogene homolog B"			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1706C>A	7.37:g.140454022G>T	ENSP00000288602:p.Ala569Asp		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.A569D	ENST00000288602.6	37	c.1706	CCDS5863.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.941859|4.941859	0.92526|0.92526	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.98862|.	-5.19|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.097638|.	0.64402|.	D|.	0.000001|.	T|T	0.54303|0.54303	0.1850|0.1850	N|N	0.20766|0.20766	0.605|0.605	0.80722|0.80722	D|D	1|1	P|.	0.36438|.	0.553|.	B|.	0.40101|.	0.319|.	T|T	0.48681|0.48681	-0.9014|-0.9014	10|5	0.87932|.	D|.	0|.	.|.	19.2584|19.2584	0.93957|0.93957	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	569|.	P15056|.	BRAF_HUMAN|.	D|T	569|177	ENSP00000288602:A569D|.	ENSP00000288602:A569D|.	A|P	-|-	2|1	0|0	BRAF|BRAF	140100491|140100491	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.658000|9.658000	0.98594|0.98594	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GCC|CCA	BRAF	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000157764		0.393	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	-	0	56	0	G	NM_004333		140454022	-1	tier1	-	no_errors	ENST00000288602	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	140454022	G	T	140454022	3	4	77	1	0	0	0	0	1	0	0	0	1500	1203	42	3	614	3	BRAF	7	140454022	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	5406208	140454022	18684641	128	20195											
EPHB6	2051	genome.wustl.edu	37	chr7	142562098	142562098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctctgcagcgtgggcTgtgggaccccacggggctgg	3	9	16	13	2	2	0	0	0	2	0	3	1	3	1	3	5	2	3	3	5	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:142562098T>C	ENST00000392957.2	+	7	1327	c.540T>C	c.(538-540)gcT>gcC	p.A180A	EPHB6_ENST00000442129.1_Silent_p.A180A|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	180	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGCGTGGGCTGTGGGACCCC	0.627																																																	0													102	122	115					7																	142562098		2199	4296	6495	SO:0001819	synonymous_variant	0			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3396	protein-coding gene	gene with protein product		602757	"EphB6"				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.540T>C	7.37:g.142562098T>C			A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.A180	ENST00000392957.2	37	c.540	CCDS5873.2	7																																																																																			EPHB6	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000106123		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	-	0	41	0	T			142562098	1	tier1	-	no_errors	ENST00000392957	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.218	C	C	142562098	T	C	142562098	2	2	77	1	0	0	0	0	0	0	0	1	5194	1567	55	4		4	EPHB6	7	142562098	Silent	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	2108076	142562098	16576565	129	20196											
KEL	3792	genome.wustl.edu	37	chr7	142649645	142649645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctggctgagctttctgCgtgcctcctggaattgactg	4	15	12	10	1	2	2	0	2	2	0	3	3	3	3	2	2	3	3	2	2	1	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr7:142649645C>T	ENST00000355265.2	-	10	1628	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	385					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCTTTCTGCGTGCCTCCTG	0.537																																																	0													129	105	113					7																	142649645		2203	4300	6503	SO:0001583	missense	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1154G>A	7.37:g.142649645C>T	ENSP00000347409:p.Arg385His		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R385H	ENST00000355265.2	37	c.1154	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606768	0.28623	.	.	ENSG00000197993	ENST00000355265	T	0.74315	-0.83	5.28	-3.34	0.04943	Peptidase M13 (1);	0.577109	0.16657	N	0.204921	T	0.49440	0.1557	N	0.12471	0.22	0.23298	N	0.997953	B	0.19706	0.038	B	0.15484	0.013	T	0.33369	-0.9871	10	0.19590	T	0.45	-4.7168	11.0716	0.48006	0.0:0.3644:0.0:0.6356	.	385	P23276	KELL_HUMAN	H	385	ENSP00000347409:R385H	ENSP00000347409:R385H	R	-	2	0	KEL	142359767	0.012000	0.17670	0.164000	0.22755	0.922000	0.55478	-0.243000	0.08915	-0.563000	0.06078	-0.136000	0.14681	CGC	KEL	-	pfam_Peptidase_M13_N	ENSG00000197993		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2	-	0	49	0	C	NM_000420		142649645	-1	tier1	-	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.084	T	T	142649645	C	T	142649645	3	4	77	1	0	0	0	0	1	0	0	0	8169	768	27	1	1084	1	KEL	7	142649645	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	87547	142649645	16489018	130	20197											
ADAMDEC1	27299	genome.wustl.edu	37	chr8	24257686	24257686	+	Frame_Shift_Del	DEL	A	A	-																															atatctactttttccaggctAaaaaaaagaataatgtggct																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:24257686delA	ENST00000256412.4	+	11	1235	c.1015delA	c.(1015-1017)aaafs	p.K341fs	ADAMDEC1_ENST00000538205.1_Frame_Shift_Del_p.K262fs|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Frame_Shift_Del_p.K262fs	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	341	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTTCCAGGCTAAAAAAAAGAA	0.358																																					Ovarian(147;687 1849 3699 25981 31337)												0													54	49	51					8																	24257686		2203	4300	6503	SO:0001589	frameshift_variant	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1015delA	8.37:g.24257686delA	ENSP00000256412:p.Lys341fs		B7ZAK5	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.K341fs	ENST00000256412.4	37	c.1015	CCDS6044.1	8																																																																																			ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134028		0.358	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2		0	88	0	A	NM_014479		24257686	1	tier1		no_errors	ENST00000256412	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.044	-	-	24257686	A	-	24257686	7	5	77	1	0	1	0	1	0	0	0	0	254	363	13	0	1057	0	ADAMDEC1	8	24257686	Frame_Shift_Del	DEL	A	TCGA-L5-A891-01A-11D-A36J-09		24257686	122106336	131	20198											
LETM2	137994	genome.wustl.edu	37	chr8	38250446	38250446	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttactttggattgacgccaAagttgctgccagaatggttt	9	14	10	8	1	0	2	0	1	0	1	0	3	0	3	2	2	3	3	2	2	3	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:38250446A>T	ENST00000379957.4	+	3	561	c.434A>T	c.(433-435)aAa>aTa	p.K145I	LETM2_ENST00000519476.2_Missense_Mutation_p.K145I|LETM2_ENST00000523983.2_Missense_Mutation_p.K98I|LETM2_ENST00000524874.1_Missense_Mutation_p.K145I|LETM2_ENST00000297720.5_Missense_Mutation_p.K98I	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	145	LETM1.					integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ATTGACGCCAAAGTTGCTGCC	0.393																																																	0													63	63	63					8																	38250446		2203	4300	6503	SO:0001583	missense	0			AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"EF-hand domain containing"	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.434A>T	8.37:g.38250446A>T	ENSP00000369291:p.Lys145Ile		A6NMG3|Q8NCR2|Q96LL1	Missense_Mutation	SNP	pfam_LETM1	p.K145I	ENST00000379957.4	37	c.434		8	.	.	.	.	.	.	.	.	.	.	A	32	5.153979	0.94645	.	.	ENSG00000165046	ENST00000519476;ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.75	5.75	0.90469	LETM1-like (1);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.988;1.0;1.0	D	0.84770	0.0767	10	0.87932	D	0	.	16.0518	0.80769	1.0:0.0:0.0:0.0	.	145;145;145	Q2VYF4;E9PMA4;A8K1M9	LETM2_HUMAN;.;.	I	145;98;145;145;98	ENSP00000429269:K145I;ENSP00000297720:K98I;ENSP00000431211:K145I;ENSP00000369291:K145I;ENSP00000428765:K98I	ENSP00000297720:K98I	K	+	2	0	LETM2	38369603	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.942000	0.75928	2.191000	0.70037	0.533000	0.62120	AAA	LETM2	-	pfam_LETM1	ENSG00000165046		0.393	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	LETM2	HGNC	protein_coding	OTTHUMT00000381816.1	-	0	54	0	A	NM_144652		38250446	1	tier1	-	no_errors	ENST00000379957	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	38250446	A	T	38250446	3	4	77	1	0	0	0	0	1	0	0	0	8763	14	1	5	295	5	LETM2	8	38250446	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	13992760	38250446	108113576	132	20199											
TCEA1	6917	genome.wustl.edu	37	chr8	54891668	54891668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagtcttggccatctgatGctctctgatggcttctttgg	5	15	10	11	0	4	2	0	2	4	0	5	2	4	2	2	3	1	2	2	3	0	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:54891668G>T	ENST00000521604.2	-	8	1145	c.742C>A	c.(742-744)Cat>Aat	p.H248N	TCEA1_ENST00000522635.1_Missense_Mutation_p.H64N|TCEA1_ENST00000396401.3_Missense_Mutation_p.H227N|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	248	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H64Y(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GCCATCTGATGCTCTCTGATG	0.433			T	PLAG1	salivary adenoma																																			Dom	yes		8	8q11.2	6917	"transcription elongation factor A (SII), 1"		E	1	Substitution - Missense(1)	large_intestine(1)											124	113	117					8																	54891668		1863	4116	5979	SO:0001583	missense	0			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"General transcription factors"	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.742C>A	8.37:g.54891668G>T	ENSP00000428426:p.His248Asn		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.H248N	ENST00000521604.2	37	c.742	CCDS47858.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332706	0.81801	.	.	ENSG00000187735	ENST00000396401;ENST00000521604;ENST00000522635	.	.	.	5.07	5.07	0.68467	Transcription elongation factor S-II, central domain (2);	0.098866	0.64402	D	0.000001	D	0.85283	0.5661	M	0.89904	3.07	0.80722	D	1	P;D;D	0.76494	0.944;0.999;0.992	P;D;D	0.73380	0.76;0.955;0.98	D	0.88023	0.2770	9	0.62326	D	0.03	-7.58	18.834	0.92153	0.0:0.0:1.0:0.0	.	64;227;248	B7Z4S1;P23193-2;P23193	.;.;TCEA1_HUMAN	N	227;248;64	.	ENSP00000395483:H227N	H	-	1	0	TCEA1	55054221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.740000	0.98839	2.523000	0.85059	0.555000	0.69702	CAT	TCEA1	-	pfam_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000187735		0.433	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA1	HGNC	protein_coding	OTTHUMT00000377975.2		0	52	0	G	NM_006756		54891668	-1			no_errors	ENST00000521604	ensembl	human	known	74_37	missense	6.67	41	3	SNP	1.000	T	T	54891668	G	T	54891668	3	4	77	1	0	0	0	0	1	0	0	0	15714	1319	46	3	175	3	TCEA1	8	54891668	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	16641222	54891668	91472354	133	20200											
CHD7	55636	genome.wustl.edu	37	chr8	61778111	61778111	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctgctgactctgcgaaTggatctgttggtgctgctac	5	13	13	10	2	2	1	0	1	2	0	3	3	2	2	0	3	5	5	0	3	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:61778111T>C	ENST00000423902.2	+	38	9092	c.8613T>C	c.(8611-8613)aaT>aaC	p.N2871N	CHD7_ENST00000524602.1_Silent_p.N822N	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2871					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACTCTGCGAATGGATCTGTTG	0.527																																																	0													92	101	98					8																	61778111		2134	4251	6385	SO:0001819	synonymous_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8613T>C	8.37:g.61778111T>C			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N2871	ENST00000423902.2	37	c.8613	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.527	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	32	0	T	XM_098762		61778111	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.994	C	C	61778111	T	C	61778111	2	2	77	1	0	0	0	0	0	0	0	1	3337	1461	51	4		4	CHD7	8	61778111	Silent	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	6886443	61778111	84585911	134	20201											
SLCO5A1	81796	genome.wustl.edu	37	chr8	70585409	70585409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaataaaaataaacccaaCgaatttgaggccggcagcca	20	5	7	9	2	0	1	0	1	0	0	0	2	0	1	3	2	3	1	3	2	9	3	rs376766213		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:70585409C>T	ENST00000260126.4	-	10	2948	c.2242G>A	c.(2242-2244)Gtt>Att	p.V748I	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.V693I|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	748						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATAAACCCAACGAATTTGAGG	0.493																																																	0													88	91	90					8																	70585409		2203	4300	6503	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2242G>A	8.37:g.70585409C>T	ENSP00000260126:p.Val748Ile		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.V748I	ENST00000260126.4	37	c.2242	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836603	0.32421	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	T;T	0.80480	-1.38;-1.38	5.93	2.96	0.34315	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.208186	0.40144	N	0.001166	T	0.68595	0.3018	L	0.48642	1.525	0.38278	D	0.942349	B;B	0.32918	0.291;0.39	B;B	0.24394	0.015;0.053	T	0.64158	-0.6473	10	0.19590	T	0.45	.	10.1775	0.42948	0.2524:0.5012:0.2464:0.0	.	693;748	E9PKK5;Q9H2Y9	.;SO5A1_HUMAN	I	748;693	ENSP00000260126:V748I;ENSP00000431611:V693I	ENSP00000260126:V748I	V	-	1	0	SLCO5A1	70747963	0.930000	0.31532	0.473000	0.27253	0.852000	0.48524	1.867000	0.39499	0.820000	0.34516	-0.175000	0.13238	GTT	SLCO5A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.493	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	-	0	40	0	C	NM_030958		70585409	-1	tier1	-	no_errors	ENST00000260126	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.984	T	T	70585409	C	T	70585409	3	4	77	1	0	0	0	0	1	0	0	0	14776	536	19	1	308	1	SLCO5A1	8	70585409	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	8807298	70585409	75778613	135	20202											
CNBD1	168975	genome.wustl.edu	37	chr8	88249239	88249239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgattgaaggaagtgattcaCcagactcgttcatatctcag	12	12	9	8	1	3	4	3	3	1	1	5	5	3	5	1	1	0	1	1	1	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:88249239C>T	ENST00000518476.1	+	6	721	c.670C>T	c.(670-672)Cca>Tca	p.P224S	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	224								p.P224T(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAGTGATTCACCAGACTCGTT	0.373																																																	2	Substitution - Missense(2)	lung(2)											133	120	124					8																	88249239		1857	4094	5951	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.670C>T	8.37:g.88249239C>T	ENSP00000430073:p.Pro224Ser			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.P224S	ENST00000518476.1	37	c.670	CCDS55259.1	8	.	.	.	.	.	.	.	.	.	.	C	3.027	-0.200580	0.06219	.	.	ENSG00000176571	ENST00000518476	T	0.16897	2.31	4.05	0.407	0.16371	Cyclic nucleotide-binding-like (1);	2.511740	0.01467	N	0.016121	T	0.07954	0.0199	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22730	-1.0208	10	0.09338	T	0.73	-0.1399	3.333	0.07091	0.5083:0.2317:0.26:0.0	.	224	Q8NA66	CNBD1_HUMAN	S	224	ENSP00000430073:P224S	ENSP00000430073:P224S	P	+	1	0	CNBD1	88318355	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.421000	0.07053	0.063000	0.16370	-0.262000	0.10625	CCA	CNBD1	-	superfamily_cNMP-bd-like	ENSG00000176571		0.373	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	-	0	92	0	C	NM_173538		88249239	1	tier1	-	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T	T	88249239	C	T	88249239	3	4	77	1	0	0	0	0	1	0	0	0	3598	507	18	3	692	3	CNBD1	8	88249239	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	17663830	88249239	58114783	136	20203											
RBM12B	389677	genome.wustl.edu	37	chr8	94746686	94746686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcctcagggggttgcctGaagtcctcctcggggagctg	4	10	14	13	1	1	1	1	1	0	0	6	2	5	2	5	4	2	2	5	4	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:94746686G>A	ENST00000399300.2	-	3	2166	c.1953C>T	c.(1951-1953)ttC>ttT	p.F651F	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	651							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGGGTTGCCTGAAGTCCTCCT	0.637																																																	0													88	90	89					8																	94746686		1868	4102	5970	SO:0001819	synonymous_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"RNA binding motif (RRM) containing"	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1953C>T	8.37:g.94746686G>A			A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F651	ENST00000399300.2	37	c.1953	CCDS43755.1	8																																																																																			RBM12B	-	NULL	ENSG00000183808		0.637	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	-	0	155	0	G	NM_203390		94746686	-1	tier1	-	no_errors	ENST00000399300	ensembl	human	known	74_37	silent	12.69	172	25	SNP	0.000	A	A	94746686	G	A	94746686	2	1	77	1	0	0	0	0	0	0	0	1	13159	1281	45	3		3	RBM12B	8	94746686	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	6497447	94746686	51617336	137	20204											
CDH17	1015	genome.wustl.edu	37	chr8	95186122	95186122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcactatgatatccacaGatgtggtatcactgaaggaa	13	11	9	8	0	2	3	2	2	0	1	3	4	3	4	1	2	0	1	1	2	5	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:95186122G>A	ENST00000027335.3	-	7	810	c.686C>T	c.(685-687)tCt>tTt	p.S229F	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.S229F	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GATATCCACAGATGTGGTATC	0.433																																																	0													136	129	131					8																	95186122		2203	4300	6503	SO:0001583	missense	0			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"Cadherins / Major cadherins"	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.686C>T	8.37:g.95186122G>A	ENSP00000027335:p.Ser229Phe		Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S229F	ENST00000027335.3	37	c.686	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	2.880	-0.232025	0.05983	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.53206	0.63;0.63	5.96	1.81	0.25067	Cadherin (4);Cadherin-like (1);	0.637723	0.14787	N	0.298471	T	0.35098	0.0920	L	0.46614	1.455	0.09310	N	1	P	0.43169	0.8	B	0.39840	0.311	T	0.16394	-1.0404	10	0.10111	T	0.7	-3.668	9.0328	0.36269	0.0719:0.0:0.3111:0.617	.	229	Q12864	CAD17_HUMAN	F	229	ENSP00000027335:S229F;ENSP00000401468:S229F	ENSP00000027335:S229F	S	-	2	0	CDH17	95255298	0.100000	0.21855	0.191000	0.23289	0.530000	0.34684	0.527000	0.22987	0.357000	0.24183	0.655000	0.94253	TCT	CDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000079112		0.433	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	-	0	45	0	G	NM_004063		95186122	-1	tier1	-	no_errors	ENST00000027335	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.048	A	A	95186122	G	A	95186122	3	1	77	1	0	0	0	0	1	0	0	0	3109	942	33	3	1860	3	CDH17	8	95186122	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	439436	95186122	51177900	138	20205											
ZHX1	11244	genome.wustl.edu	37	chr8	124268118	124268118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatccaaatctgatatcaaCtcaaggtctggatcttgttc	11	14	6	10	0	6	1	3	1	3	0	8	2	7	2	1	2	1	1	1	2	4	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:124268118C>T	ENST00000522655.1	-	3	609	c.69G>A	c.(67-69)gaG>gaA	p.E23E	ZHX1_ENST00000395571.3_Silent_p.E23E|ZHX1_ENST00000297857.2_Silent_p.E23E|ZHX1_ENST00000522595.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	23					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGATATCAACTCAAGGTCTG	0.448																																																	0													161	147	152					8																	124268118		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.69G>A	8.37:g.124268118C>T			Q8IWD8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E23	ENST00000522655.1	37	c.69	CCDS6342.1	8																																																																																			ZHX1	-	NULL	ENSG00000165156		0.448	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0	66	0	C			124268118	-1	tier1	-	no_errors	ENST00000297857	ensembl	human	known	74_37	silent	21.79	61	17	SNP	0.218	T	T	124268118	C	T	124268118	2	4	77	1	0	0	0	0	0	0	0	1	17723	564	20	3		3	ZHX1	8	124268118	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	29081996	124268118	22095904	139	20206											
KIAA0196	9897	genome.wustl.edu	37	chr8	126059506	126059506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaataaacgttacagacTcatccacaggggtaaacttg	15	8	8	10	1	1	1	1	0	0	1	2	2	2	1	2	2	3	2	2	2	6	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:126059506T>A	ENST00000318410.7	-	20	2796	c.2447A>T	c.(2446-2448)gAg>gTg	p.E816V	KIAA0196_ENST00000517845.1_Missense_Mutation_p.E668V|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	816					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CGTTACAGACTCATCCACAGG	0.428																																																	0													122	112	115					8																	126059506		2203	4300	6503	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"strumpellin"	610657	"spastic paraplegia 8 (autosomal dominant)"	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2447A>T	8.37:g.126059506T>A	ENSP00000318016:p.Glu816Val		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E816V	ENST00000318410.7	37	c.2447	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.38|16.38	3.105783|3.105783	0.56291|0.56291	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.86562|.	-2.14;-2.14|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50837|0.50837	0.1639|0.1639	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	B;D|.	0.62365|.	0.014;0.991|.	B;D|.	0.78314|.	0.008;0.991|.	T|T	0.48080|0.48080	-0.9066|-0.9066	10|5	0.30078|.	T|.	0.28|.	-21.3073|-21.3073	15.4462|15.4462	0.75232|0.75232	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	668;816|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	V|C	816;668|433	ENSP00000318016:E816V;ENSP00000429676:E668V|.	ENSP00000318016:E816V|.	E|S	-|-	2|1	0|0	KIAA0196|KIAA0196	126128688|126128688	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.950000|0.950000	0.60333|0.60333	8.028000|8.028000	0.88798|0.88798	2.068000|2.068000	0.61886|0.61886	0.459000|0.459000	0.35465|0.35465	GAG|AGT	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.428	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	-	0	87	0	T	NM_014846		126059506	-1	tier1	-	no_errors	ENST00000318410	ensembl	human	known	74_37	missense	8.65	95	9	SNP	1.000	A	A	126059506	T	A	126059506	3	1	77	1	0	0	0	0	1	0	0	0	8188	1551	54	5	1072	5	KIAA0196	8	126059506	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	1791388	126059506	20304516	140	20207											
TG	7038	genome.wustl.edu	37	chr8	133920543	133920543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagactttccaggttttCatattggatgagctgacagc	9	13	10	9	0	1	3	1	2	0	1	2	4	2	4	1	2	3	3	1	2	1	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:133920543C>T	ENST00000220616.4	+	18	4000	c.3960C>T	c.(3958-3960)ttC>ttT	p.F1320F	TG_ENST00000377869.1_Silent_p.F1320F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1320					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCAGGTTTTCATATTGGATG	0.582																																																	0													73	67	69					8																	133920543		2203	4300	6503	SO:0001819	synonymous_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3960C>T	8.37:g.133920543C>T			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.F1320	ENST00000220616.4	37	c.3960	CCDS34944.1	8																																																																																			TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.582	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	78	0	C	NM_003235		133920543	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.083	T	T	133920543	C	T	133920543	2	4	77	1	0	0	0	0	0	0	0	1	15860	825	29	3		3	TG	8	133920543	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	7861037	133920543	12443479	141	20208											
PLEC	5339	genome.wustl.edu	37	chr8	145018819	145018819	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggctgcccacctaccggGcacgatcttcatcggggacg	8	6	13	14	4	2	0	1	0	1	0	3	2	2	1	3	4	2	2	3	4	2	2	rs564343432		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr8:145018819G>A	ENST00000322810.4	-	1	693				PLEC_ENST00000398774.2_Missense_Mutation_p.P5S|PLEC_ENST00000354589.3_5'Flank|PLEC_ENST00000357649.2_5'Flank|MIR661_ENST00000384842.1_RNA|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin						apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCTACCGGGCACGATCTTC	0.697													G|||	1	0.000199681	0	0	5008	,	,		13661	0		0.001	False		,,,				2504	0																0													20	22	21					8																	145018819		1933	4122	6055	SO:0001627	intron_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.523+5532C>T	8.37:g.145018819G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P5S	ENST00000322810.4	37	c.13	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	g	13.23	2.176269	0.38413	.	.	ENSG00000178209	ENST00000398774	D	0.95238	-3.65	3.94	3.04	0.35103	.	.	.	.	.	D	0.94321	0.8175	.	.	.	0.80722	D	1	D	0.54207	0.965	P	0.50136	0.632	D	0.92997	0.6420	8	0.66056	D	0.02	.	9.8711	0.41175	0.0:0.2089:0.7911:0.0	.	5	Q15149-7	.	S	5	ENSP00000381756:P5S	ENSP00000381756:P5S	P	-	1	0	PLEC	145090807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.544000	0.53640	0.719000	0.32188	0.556000	0.70494	CCC	PLEC	-	superfamily_CH-domain	ENSG00000178209		0.697	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	36	0	G	NM_000445		145018819	-1	tier1	-	no_errors	ENST00000398774	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	145018819	G	A	145018819	1	1	77	0	1	0	0	0	0	0	0	0	12091	1203	42	3		3	PLEC	8	145018819	Intron	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	11098276	145018819	1345203	142	20209											
PTPRD	5789	genome.wustl.edu	37	chr9	8500925	8500925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aggcttgtcatcttccccatCcactgcagtgtacttgatgg	7	13	9	12	0	2	1	1	1	1	0	4	1	4	1	3	2	2	3	3	2	1	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:8500925C>G	ENST00000381196.4	-	21	2500	c.1957G>C	c.(1957-1959)Gat>Cat	p.D653H	PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D640H|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.D640H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D653H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D653H|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	653	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTTCCCCATCCACTGCAGTG	0.448										TSP Lung(15;0.13)																																							0													238	226	230					9																	8500925		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1957G>C	9.37:g.8500925C>G	ENSP00000370593:p.Asp653His		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.D653H	ENST00000381196.4	37	c.1957	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001905	0.74932	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.64	5.64	0.86602	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050396	0.85682	D	0.000000	T	0.69242	0.3089	L	0.54863	1.705	0.80722	D	1	P;P;P	0.51057	0.941;0.928;0.851	P;P;P	0.57152	0.785;0.814;0.796	T	0.65619	-0.6124	9	.	.	.	.	19.7063	0.96072	0.0:1.0:0.0:0.0	.	640;653;653	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	H	653;653;640;640;653	ENSP00000370593:D653H;ENSP00000348812:D653H;ENSP00000353187:D640H;ENSP00000351293:D640H;ENSP00000438164:D653H	.	D	-	1	0	PTPRD	8490925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.484000	0.81180	2.644000	0.89710	0.561000	0.74099	GAT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	133	0	C			8500925	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	8.27	122	11	SNP	1.000	G	G	8500925	C	G	8500925	3	3	77	1	0	0	0	0	1	0	0	0	12844	855	30	5	3941	5	PTPRD	9	8500925	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09		8500925	132712506	143	20210											
FREM1	158326	genome.wustl.edu	37	chr9	14750163	14750163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcactgcagcttttgtcTttgtgccaagaactgcattc	7	17	7	10	0	2	1	1	0	1	1	3	1	2	1	1	0	5	3	1	0	2	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:14750163T>A	ENST00000380880.3	-	30	6302	c.5519A>T	c.(5518-5520)aAg>aTg	p.K1840M	FREM1_ENST00000380881.4_Missense_Mutation_p.K1841M|FREM1_ENST00000380894.1_Missense_Mutation_p.K376M|FREM1_ENST00000422223.2_Missense_Mutation_p.K1840M|FREM1_ENST00000486223.1_5'Flank			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1840					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCTTTTGTCTTTGTGCCAAG	0.423																																																	0													149	141	143					9																	14750163		1842	4093	5935	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5519A>T	9.37:g.14750163T>A	ENSP00000370262:p.Lys1840Met		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.K1841M	ENST00000380880.3	37	c.5522	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137819	0.56936	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.51	5.51	0.81932	.	0.272591	0.39909	N	0.001223	T	0.38188	0.1031	L	0.47716	1.5	0.38659	D	0.952037	P;P	0.51240	0.943;0.943	P;P	0.52856	0.547;0.711	T	0.31752	-0.9932	10	0.49607	T	0.09	-12.7477	10.7813	0.46379	0.0:0.0738:0.0:0.9262	.	1840;376	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	M	1841;1840;376;1840	ENSP00000370263:K1841M;ENSP00000412940:K1840M;ENSP00000370278:K376M;ENSP00000370262:K1840M	ENSP00000370262:K1840M	K	-	2	0	FREM1	14740163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.695000	0.37763	2.093000	0.63338	0.460000	0.39030	AAG	FREM1	-	NULL	ENSG00000164946		0.423	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2		0	62	0	T	NM_144966		14750163	-1			no_errors	ENST00000380881	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	14750163	T	A	14750163	3	1	77	1	0	0	0	0	1	0	0	0	6068	1609	56	5	1052	5	FREM1	9	14750163	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	6249238	14750163	126463268	144	20211											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18892502	18892502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccacccctgtgtccaatGacatgtgcacccaggtcgcc	7	9	8	17	1	1	1	0	1	1	0	4	1	2	1	6	1	1	1	6	1	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:18892502G>A	ENST00000380548.4	+	26	5098	c.4759G>A	c.(4759-4761)Gac>Aac	p.D1587N	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.D288N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1587	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTGTCCAATGACATGTGCAC	0.632																																																	0													19	22	21					9																	18892502		1948	4134	6082	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4759G>A	9.37:g.18892502G>A	ENSP00000369921:p.Asp1587Asn		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.D288N	ENST00000380548.4	37	c.862	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360514	0.41801	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239	T;T	0.51817	0.69;0.69	5.49	5.49	0.81192	.	0.218996	0.39909	N	0.001236	T	0.46908	0.1417	N	0.25094	0.71	0.46298	D	0.99897	P;P	0.48998	0.634;0.918	B;P	0.52386	0.167;0.697	T	0.20538	-1.0272	10	0.14252	T	0.57	.	19.3798	0.94527	0.0:0.0:1.0:0.0	.	288;1587	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	N	1587;288;291	ENSP00000369921:D1587N;ENSP00000369918:D288N	ENSP00000325584:D291N	D	+	1	0	ADAMTSL1	18882502	1.000000	0.71417	0.999000	0.59377	0.821000	0.46438	7.047000	0.76599	2.589000	0.87451	0.555000	0.69702	GAC	ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.632	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	85	0	G			18892502	1	tier1	-	no_errors	ENST00000380545	ensembl	human	putative	74_37	missense	33.33	58	29	SNP	1.000	A	A	18892502	G	A	18892502	3	1	77	1	0	0	0	0	1	0	0	0	274	1290	45	3	4865	3	ADAMTSL1	9	18892502	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	4142339	18892502	122320929	145	20212											
DENND4C	55667	genome.wustl.edu	37	chr9	19352542	19352542	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagctttagtttatgatGaagaaattatggctggatgg	11	14	14	2	0	0	3	0	2	0	1	0	5	0	5	0	4	1	3	0	4	5	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:19352542G>T	ENST00000380432.2	+	21	3838	c.3805G>T	c.(3805-3807)Gaa>Taa	p.E1269*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.E1505*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.E1554*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1269					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGTTTATGATGAAGAAATTAT	0.348																																																	0													118	117	117					9																	19352542		2203	4300	6503	SO:0001587	stop_gained	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"DENN/MADD domain containing"	26079	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 55B", "chromosome 9 open reading frame 55"	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3805G>T	9.37:g.19352542G>T	ENSP00000369797:p.Glu1269*		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1505*	ENST00000380432.2	37	c.4513		9	.	.	.	.	.	.	.	.	.	.	G	39	7.311855	0.98203	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024;ENST00000380424	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-20.5398	18.7787	0.91922	0.0:0.0:1.0:0.0	.	.	.	.	X	1269;742;451;599;742;451;266;140	.	ENSP00000305795:E742X	E	+	1	0	DENND4C	19342542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.669000	0.90835	0.655000	0.94253	GAA	DENND4C	-	NULL	ENSG00000137145		0.348	DENND4C-201	KNOWN	basic	protein_coding	DENND4C	HGNC	protein_coding		-	0	28	0	G	NM_017925		19352542	1	tier1	-	no_errors	ENST00000602925	ensembl	human	known	74_37	nonsense	10.71	25	3	SNP	1.000	T	T	19352542	G	T	19352542	4	4	77	1	0	0	0	0	0	1	0	0	4449	1291	45	3	3887	3	DENND4C	9	19352542	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	460040	19352542	121860889	146	20213											
ZNF367	195828	genome.wustl.edu	37	chr9	99157146	99157147	+	Frame_Shift_Del	DEL	CG	CG	-																															gtttctctccggtgtgaagaCgctgatgtgttttgagctgt																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:99157146_99157147delCG	ENST00000375256.4	-	3	945_946	c.649_650delCG	c.(649-651)cgtfs	p.R217fs		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	217					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGTGAAGACGCTGATGTGTT	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AK091289	CCDS6718.1	9q22	2008-05-02			ENSG00000165244	ENSG00000165244		"Zinc fingers, C2H2-type"	18320	protein-coding gene	gene with protein product		610160					Standard	NM_153695		Approved	FLJ33970	uc004awf.3	Q7RTV3	OTTHUMG00000020295	ENST00000375256.4:c.649_650delCG	9.37:g.99157146_99157147delCG	ENSP00000364405:p.Arg217fs		Q6Q7C8	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R217fs	ENST00000375256.4	37	c.650_649	CCDS6718.1	9																																																																																			ZNF367	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000165244		0.386	ZNF367-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF367	HGNC	protein_coding	OTTHUMT00000053266.1		0	164	0	CG			99157147	-1	tier1		no_errors	ENST00000375256	ensembl	human	known	74_37	frame_shift_del	55.69	74	93	DEL	1.000:1.000	-	-	99157147	CG	-	99157146	7	5	77	1	0	1	0	1	0	0	0	0	17919	536	19	0	414	0	ZNF367	9	99157146	Frame_Shift_Del	DEL	CG	TCGA-L5-A891-01A-11D-A36J-09	79804604	99157146	42056285	147	20214											
ANKS6	203286	genome.wustl.edu	37	chr9	101518740	101518740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgctggagcccccactgCtcttggactgccgatgggat	6	9	12	14	1	1	0	0	0	1	0	1	4	1	3	3	3	4	2	3	3	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:101518740C>T	ENST00000353234.4	-	12	2335	c.2288G>A	c.(2287-2289)aGc>aAc	p.S763N	ANKS6_ENST00000375019.2_Missense_Mutation_p.S462N|ANKS6_ENST00000540940.1_Missense_Mutation_p.S568N|ANKS6_ENST00000375018.1_Missense_Mutation_p.S764N			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	763	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCCCCCACTGCTCTTGGACTG	0.602																																																	0													88	89	89					9																	101518740		2058	4199	6257	SO:0001583	missense	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2288G>A	9.37:g.101518740C>T	ENSP00000297837:p.Ser763Asn		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S764N	ENST00000353234.4	37	c.2291	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803383	0.70682	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.71461	1.66;-0.57;-0.57;1.91	5.27	5.27	0.74061	.	0.082256	0.85682	D	0.000000	T	0.66963	0.2843	L	0.55481	1.735	0.44880	D	0.997898	B;B	0.34329	0.449;0.321	B;B	0.31614	0.133;0.063	T	0.71056	-0.4703	10	0.72032	D	0.01	-15.0294	16.377	0.83409	0.0:1.0:0.0:0.0	.	764;763	Q68DC2-4;Q68DC2	.;ANKS6_HUMAN	N	462;764;763;568	ENSP00000364159:S462N;ENSP00000364158:S764N;ENSP00000297837:S763N;ENSP00000442189:S568N	ENSP00000297837:S763N	S	-	2	0	ANKS6	100558561	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.145000	0.77365	2.478000	0.83669	0.484000	0.47621	AGC	ANKS6	-	NULL	ENSG00000165138		0.602	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1		0	63	0	C	NM_173551		101518740	-1			no_errors	ENST00000375018	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	101518740	C	T	101518740	3	4	77	1	0	0	0	0	1	0	0	0	692	797	28	3	343	3	ANKS6	9	101518740	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2361594	101518740	39694691	148	20215											
ABCA1	19	genome.wustl.edu	37	chr9	107589326	107589326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgatgcccccacaggctGctgccaggttggctctggag	7	8	14	12	0	1	2	0	1	1	1	1	3	1	3	3	4	3	4	3	4	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:107589326G>A	ENST00000374736.3	-	16	2634	c.2240C>T	c.(2239-2241)gCa>gTa	p.A747V	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	747					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCACAGGCTGCTGCCAGGTT	0.557																																																	0													142	120	127					9																	107589326		2203	4300	6503	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.2240C>T	9.37:g.107589326G>A	ENSP00000363868:p.Ala747Val		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A747V	ENST00000374736.3	37	c.2240	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.606831	0.96626	.	.	ENSG00000165029	ENST00000374736	D	0.95272	-3.66	5.3	5.3	0.74995	.	0.052094	0.85682	D	0.000000	D	0.97126	0.9061	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97426	1.0012	10	0.62326	D	0.03	.	18.9548	0.92654	0.0:0.0:1.0:0.0	.	747	O95477	ABCA1_HUMAN	V	747	ENSP00000363868:A747V	ENSP00000363868:A747V	A	-	2	0	ABCA1	106629147	1.000000	0.71417	0.963000	0.40424	0.982000	0.71751	9.869000	0.99810	2.468000	0.83385	0.655000	0.94253	GCA	ABCA1	-	NULL	ENSG00000165029		0.557	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0	78	0	G	NM_005502		107589326	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	107589326	G	A	107589326	3	1	77	1	0	0	0	0	1	0	0	0	28	1319	46	3	4685	3	ABCA1	9	107589326	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	6070586	107589326	33624105	149	20216											
ASTN2	23245	genome.wustl.edu	37	chr9	119739005	119739005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctgtccccagtcactgcGcacacacaggtgtctgtgaa	9	9	9	14	1	3	1	1	1	2	0	4	1	4	1	2	1	1	1	2	1	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:119739005G>A	ENST00000313400.4	-	8	1751	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C			O75129	ASTN2_HUMAN	astrotactin 2	551					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTCACTGCGCACACACAGG	0.507																																																	0													111	89	96					9																	119739005		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1651C>T	9.37:g.119739005G>A	ENSP00000314038:p.Arg551Cys		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.R551C	ENST00000313400.4	37	c.1651		9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219085	0.79464	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.25250	1.92;1.92;1.81;2.0	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.993;0.999	T	0.05582	-1.0876	9	.	.	.	-23.3294	20.0795	0.97766	0.0:0.0:1.0:0.0	.	500;551;551	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	551;551;278;500	ENSP00000314038:R551C;ENSP00000363108:R551C;ENSP00000363098:R278C;ENSP00000354504:R500C	.	R	-	1	0	ASTN2	118778826	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.479000	0.81095	2.747000	0.94245	0.650000	0.86243	CGC	ASTN2	-	NULL	ENSG00000148219		0.507	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		-	0	112	0	G	NM_014010		119739005	-1	tier1	-	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	16.67	65	13	SNP	1.000	A	A	119739005	G	A	119739005	3	1	77	1	0	0	0	0	1	0	0	0	1066	1087	38	1	2664	1	ASTN2	9	119739005	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	12149679	119739005	21474426	150	20217											
PHF19	26147	genome.wustl.edu	37	chr9	123632171	123632171	+	Frame_Shift_Del	DEL	C	C	-																															cggcagaaccaaggtgtgagCaggggctggtcagcactgcc																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:123632171delC	ENST00000373896.3	-	5	669	c.417delG	c.(415-417)ctgfs	p.L140fs	PHF19_ENST00000312189.6_Frame_Shift_Del_p.L140fs|PHF19_ENST00000419155.1_5'Flank|PHF19_ENST00000487555.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	140					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTGTGAGCAGGGGCTGGT	0.662																																																	0													37	31	33					9																	123632171		2199	4299	6498	SO:0001589	frameshift_variant	0			BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"Tudor domain containing", "Zinc fingers, PHD-type"	24566	protein-coding gene	gene with protein product	"polycomb-like 3", "tudor domain containing 19B"	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.417delG	9.37:g.123632171delC	ENSP00000363003:p.Leu140fs		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD	p.L140fs	ENST00000373896.3	37	c.417	CCDS35116.1	9																																																																																			PHF19	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000119403		0.662	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF19	HGNC	protein_coding	OTTHUMT00000053838.3		0	45	0	C	XM_045308		123632171	-1	tier1		no_errors	ENST00000373896	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	123632171	C	-	123632171	7	5	77	1	0	1	0	1	0	0	0	0	11868	697	25	0	1528	0	PHF19	9	123632171	Frame_Shift_Del	DEL	C	TCGA-L5-A891-01A-11D-A36J-09	3893166	123632171	17581260	151	20218											
DENND1A	57706	genome.wustl.edu	37	chr9	126220096	126220096	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagagctgcagctgtgtGgcgttctgcaggaactgcct	7	11	14	9	1	1	2	0	1	1	1	1	3	1	3	1	2	6	5	1	2	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:126220096G>T	ENST00000373624.2	-	14	1275	c.1074C>A	c.(1072-1074)gcC>gcA	p.A358A	DENND1A_ENST00000373618.1_Silent_p.A326A|DENND1A_ENST00000394219.3_Silent_p.A326A|DENND1A_ENST00000373620.3_Silent_p.A358A|DENND1A_ENST00000542603.1_Silent_p.A100A|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394215.2_Silent_p.A328A	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	358	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCAGCTGTGTGGCGTTCTGCA	0.612																																																	0													49	43	45					9																	126220096		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"DENN/MADD domain containing"	29324	protein-coding gene	gene with protein product		613633	"KIAA1608"	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1074C>A	9.37:g.126220096G>T			A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A326	ENST00000373624.2	37	c.978	CCDS35133.1	9																																																																																			DENND1A	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000119522		0.612	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DENND1A	HGNC	protein_coding	OTTHUMT00000053997.1		0	29	0	G	NM_024820		126220096	-1			no_errors	ENST00000394219	ensembl	human	known	74_37	silent	9.38	28	3	SNP	0.999	T	T	126220096	G	T	126220096	2	4	77	1	0	0	0	0	0	0	0	1	4440	1335	47	3		3	DENND1A	9	126220096	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2587925	126220096	14993335	152	20219											
PBX3	5090	genome.wustl.edu	37	chr9	128724437	128724437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgttcatgaacatgcagAgtctgaatggggattcttac	12	12	10	7	0	3	3	1	2	2	1	3	4	3	4	0	2	3	2	0	2	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:128724437A>T	ENST00000373489.5	+	7	1082	c.1066A>T	c.(1066-1068)Agt>Tgt	p.S356C	PBX3_ENST00000373487.4_Missense_Mutation_p.S377C|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373483.2_Missense_Mutation_p.S175C|PBX3_ENST00000447726.2_Missense_Mutation_p.S281C	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	356					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GAACATGCAGAGTCTGAATGG	0.478																																																	0													93	85	88					9																	128724437		2203	4300	6503	SO:0001583	missense	0				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1066A>T	9.37:g.128724437A>T	ENSP00000362588:p.Ser356Cys		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S356C	ENST00000373489.5	37	c.1066	CCDS6865.1	9	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254503	0.80135	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.89875	-2.35;1.73;-2.53;-2.58	5.83	4.66	0.58398	.	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.63880	0.993;0.97	P;P	0.60012	0.867;0.566	D	0.91097	0.4911	10	0.66056	D	0.02	.	12.1689	0.54146	0.8717:0.0:0.0:0.1283	.	377;356	Q5JS98;P40426	.;PBX3_HUMAN	C	356;377;175;281	ENSP00000362588:S356C;ENSP00000362586:S377C;ENSP00000362582:S175C;ENSP00000387456:S281C	ENSP00000362582:S175C	S	+	1	0	PBX3	127764258	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.023000	0.76437	0.988000	0.38734	0.528000	0.53228	AGT	PBX3	-	NULL	ENSG00000167081		0.478	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1	-	0	66	0	A			128724437	1	tier1	-	no_errors	ENST00000373489	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	T	T	128724437	A	T	128724437	3	4	77	1	0	0	0	0	1	0	0	0	11533	304	11	5	1092	5	PBX3	9	128724437	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	2504341	128724437	12488994	153	20220											
LCN2	3934	genome.wustl.edu	37	chr9	130913920	130913920	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctctccctcccaaggaaAaagaagtgtgactactggat	13	9	8	11	0	1	2	0	1	1	1	4	4	3	4	2	2	1	0	2	2	5	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:130913920A>G	ENST00000373017.1	+	4	516	c.279A>G	c.(277-279)aaA>aaG	p.K93K	LCN2_ENST00000372998.1_Intron|LCN2_ENST00000540948.1_Silent_p.K93K|LCN2_ENST00000373013.2_Silent_p.K95K|LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000277480.2_Silent_p.K93K			P80188	NGAL_HUMAN	lipocalin 2	93					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						TCCCAAGGAAAAAGAAGTGTG	0.582																																																	0													62	49	53					9																	130913920		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"Lipocalins"	6526	protein-coding gene	gene with protein product	"oncogene 24p3", "neutrophil gelatinase-associated lipocalin", "siderocalin"	600181	"lipocalin 2 (oncogene 24p3)"			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.279A>G	9.37:g.130913920A>G			A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln	p.K95	ENST00000373017.1	37	c.285	CCDS6892.1	9																																																																																			LCN2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000148346		0.582	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LCN2	HGNC	protein_coding	OTTHUMT00000054375.1		0	105	0	A	NM_005564		130913920	1			no_errors	ENST00000373013	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.000	G	G	130913920	A	G	130913920	2	3	77	1	0	0	0	0	0	0	0	1	8712	11	1	4		4	LCN2	9	130913920	Silent	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	2189483	130913920	10299511	154	20221											
SPTAN1	6709	genome.wustl.edu	37	chr9	131339485	131339485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttggccgagacctggCaagtgttcaggctctgcttc	6	13	12	10	1	2	2	1	1	1	1	3	3	2	2	2	3	1	4	2	3	1	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:131339485C>G	ENST00000372731.4	+	7	973	c.863C>G	c.(862-864)gCa>gGa	p.A288G	SPTAN1_ENST00000372739.3_Missense_Mutation_p.A288G|SPTAN1_ENST00000358161.5_Missense_Mutation_p.A288G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	288					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CGAGACCTGGCAAGTGTTCAG	0.468																																					NSCLC(120;833 1744 2558 35612 37579)												0													137	141	140					9																	131339485		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.863C>G	9.37:g.131339485C>G	ENSP00000361816:p.Ala288Gly		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.A288G	ENST00000372731.4	37	c.863	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974414	0.92919	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51325	0.71;0.71;0.71	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	L	0.39898	1.24	0.80722	D	1	P;B;B;B;B	0.40398	0.716;0.098;0.235;0.405;0.392	B;B;B;B;B	0.43701	0.376;0.117;0.203;0.428;0.238	T	0.27365	-1.0076	10	0.36615	T	0.2	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	288;288;288;288;288	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	G	288	ENSP00000350882:A288G;ENSP00000361816:A288G;ENSP00000361824:A288G	ENSP00000350882:A288G	A	+	2	0	SPTAN1	130379306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GCA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.468	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	88	0	C	NM_003127		131339485	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	10.39	69	8	SNP	1.000	G	G	131339485	C	G	131339485	3	3	77	1	0	0	0	0	1	0	0	0	15164	710	25	5	885	5	SPTAN1	9	131339485	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	425565	131339485	9873946	155	20222											
ASB6	140459	genome.wustl.edu	37	chr9	132400455	132400455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccagaccagcaggacgCaccgtgcagggagcagttgt	12	4	14	11	2	0	1	0	0	0	1	0	3	0	3	3	2	4	5	3	2	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr9:132400455C>A	ENST00000277458.4	-	6	1045	c.880G>T	c.(880-882)Gcg>Tcg	p.A294S	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.A215S|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	294					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAGCAGGACGCACCGTGCAGG	0.597																																																	0													59	55	56					9																	132400455		2203	4300	6503	SO:0001583	missense	0				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"Ankyrin repeat domain containing"	17181	protein-coding gene	gene with protein product		615051	"ankyrin repeat and SOCS box-containing 6"				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.880G>T	9.37:g.132400455C>A	ENSP00000277458:p.Ala294Ser		Q5SZB7|Q9BV15	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A294S	ENST00000277458.4	37	c.880	CCDS6924.1	9	.	.	.	.	.	.	.	.	.	.	C	8.228	0.803989	0.16467	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.80480	-1.38;-1.38	4.65	-0.0788	0.13713	.	0.520768	0.21464	N	0.074108	T	0.67505	0.2900	N	0.14661	0.345	0.09310	N	1	B;B;B	0.23316	0.034;0.083;0.034	B;B;B	0.24848	0.01;0.056;0.01	T	0.60449	-0.7261	10	0.62326	D	0.03	-13.6426	16.7971	0.85605	0.0:0.2394:0.7606:0.0	.	215;294;294	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	S	294;215	ENSP00000277458:A294S;ENSP00000416172:A215S	ENSP00000277458:A294S	A	-	1	0	ASB6	131440276	0.907000	0.30839	0.004000	0.12327	0.311000	0.27955	1.675000	0.37555	0.117000	0.18138	0.462000	0.41574	GCG	ASB6	-	NULL	ENSG00000148331		0.597	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB6	HGNC	protein_coding	OTTHUMT00000054594.1	-	0	50	0	C	NM_017873		132400455	-1	tier1	-	no_errors	ENST00000277458	ensembl	human	known	74_37	missense	50.00	12	12	SNP	0.049	A	A	132400455	C	A	132400455	3	1	77	1	0	0	0	0	1	0	0	0	1028	710	25	3	389	3	ASB6	9	132400455	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1060970	132400455	8812976	156	20223											
MCM10	55388	genome.wustl.edu	37	chr10	13214405	13214405	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttgcaagagcaaatgAaggccttacaagagcagcta	16	7	11	7	0	0	3	0	1	0	2	0	4	0	4	1	2	5	4	1	2	7	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:13214405A>T	ENST00000484800.2	+	4	482	c.379A>T	c.(379-381)Aag>Tag	p.K127*	MCM10_ENST00000378714.3_Nonsense_Mutation_p.K127*|MCM10_ENST00000378694.1_Nonsense_Mutation_p.K127*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	127	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGAGCAAATGAAGGCCTTACA	0.403																																																	0													120	129	126					10																	13214405		2203	4300	6503	SO:0001587	stop_gained	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.379A>T	10.37:g.13214405A>T	ENSP00000418268:p.Lys127*		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.K127*	ENST00000484800.2	37	c.379	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	A	35	5.524031	0.96431	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000479669;ENST00000378694	.	.	.	5.72	4.58	0.56647	.	0.150196	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6862	13.0871	0.59146	0.866:0.134:0.0:0.0	.	.	.	.	X	127;127;127;47;127	.	ENSP00000354945:K127X	K	+	1	0	MCM10	13254411	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.880000	0.56145	0.977000	0.38444	0.460000	0.39030	AAG	MCM10	-	NULL	ENSG00000065328		0.403	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1		0	49	0	A	NM_182751		13214405	1			no_errors	ENST00000484800	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	13214405	A	T	13214405	4	4	77	1	0	0	0	0	0	1	0	0	9423	247	9	5	389	5	MCM10	10	13214405	Nonsense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09		13214405	122320342	157	20224											
STAM	8027	genome.wustl.edu	37	chr10	17750914	17750914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaccatccgcaaacccagCccttcctagtcagcagactc	10	6	5	20	1	1	1	1	0	0	1	4	1	3	1	6	0	3	2	6	0	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:17750914C>T	ENST00000377524.3	+	13	1564	c.1349C>T	c.(1348-1350)gCc>gTc	p.A450V	STAM_ENST00000540523.1_Missense_Mutation_p.A339V	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	450					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAACCCAGCCCTTCCTAGT	0.542																																																	0													87	86	86					10																	17750914		2203	4300	6503	SO:0001583	missense	0			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1349C>T	10.37:g.17750914C>T	ENSP00000366746:p.Ala450Val		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.A450V	ENST00000377524.3	37	c.1349	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	C	13.03	2.113969	0.37339	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.39997	1.34;1.05	5.68	4.77	0.60923	.	0.708493	0.14059	N	0.344213	T	0.19087	0.0458	N	0.12182	0.205	0.28924	N	0.891955	B;B	0.21071	0.051;0.001	B;B	0.14023	0.01;0.001	T	0.23154	-1.0196	10	0.10902	T	0.67	-12.8049	2.5727	0.04798	0.1534:0.5341:0.1482:0.1643	.	339;450	B4DZT2;Q92783	.;STAM1_HUMAN	V	450;339	ENSP00000366746:A450V;ENSP00000438073:A339V	ENSP00000366746:A450V	A	+	2	0	STAM	17790920	0.993000	0.37304	0.886000	0.34754	0.953000	0.61014	1.637000	0.37155	1.386000	0.46466	0.591000	0.81541	GCC	STAM	-	NULL	ENSG00000136738		0.542	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1		0	32	0	C	NM_003473		17750914	1			no_errors	ENST00000377524	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.602	T	T	17750914	C	T	17750914	3	4	77	1	0	0	0	0	1	0	0	0	15295	739	26	3	1399	3	STAM	10	17750914	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	4536509	17750914	117783833	158	20225											
WAC	51322	genome.wustl.edu	37	chr10	28879731	28879731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaagagaggtgatgcaaGcaacagccactagtgggttt	14	7	13	7	0	0	3	0	1	0	2	0	4	0	3	1	2	4	3	1	2	4	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:28879731G>T	ENST00000354911.4	+	6	741	c.580G>T	c.(580-582)Gca>Tca	p.A194S	WAC_ENST00000375646.1_Missense_Mutation_p.A149S|WAC_ENST00000375664.4_Missense_Mutation_p.A149S|WAC_ENST00000428935.1_Missense_Mutation_p.A149S|WAC_ENST00000347934.4_Missense_Mutation_p.A194S	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	194					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTGATGCAAGCAACAGCCAC	0.338																																																	0													53	56	55					10																	28879731		2203	4300	6503	SO:0001583	missense	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.580G>T	10.37:g.28879731G>T	ENSP00000346986:p.Ala194Ser		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.A194S	ENST00000354911.4	37	c.580	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151548	0.57151	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935;ENST00000420266;ENST00000424454;ENST00000538000;ENST00000442148;ENST00000414108	T;T;T;T;T;T;T	0.47869	1.89;1.81;1.76;1.93;1.45;0.89;0.83	5.58	4.48	0.54585	.	0.102010	0.64402	D	0.000003	T	0.37128	0.0992	L	0.40543	1.245	0.80722	D	1	B;B;B	0.22683	0.05;0.073;0.005	B;B;B	0.27796	0.032;0.083;0.004	T	0.14062	-1.0486	10	0.05721	T	0.95	-9.4417	15.3329	0.74229	0.0786:0.0:0.9214:0.0	.	149;194;194	Q9BTA9-2;Q9BTA9-5;Q9BTA9	.;.;WAC_HUMAN	S	149;149;194;194;149;149;149;149;149;149	ENSP00000364816:A149S;ENSP00000364797:A149S;ENSP00000311106:A194S;ENSP00000346986:A194S;ENSP00000399706:A149S;ENSP00000404758:A149S;ENSP00000415645:A149S	ENSP00000311106:A194S	A	+	1	0	WAC	28919737	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.820000	0.86633	2.628000	0.89032	0.563000	0.77884	GCA	WAC	-	NULL	ENSG00000095787		0.338	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	-	0	54	0	G	NM_100264		28879731	1	tier1	-	no_errors	ENST00000354911	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	28879731	G	T	28879731	3	4	77	1	0	0	0	0	1	0	0	0	17296	971	34	3	602	3	WAC	10	28879731	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	11128817	28879731	106655016	159	20226											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37430831	37430831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttggtggagggaacaTctgacaaaattcaatgtttg	12	12	10	7	0	2	1	1	1	1	0	3	3	3	3	1	3	1	1	1	3	4	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:37430831T>G	ENST00000602533.1	+	7	937	c.838T>G	c.(838-840)Tct>Gct	p.S280A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.S280A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S280A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	336					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGAGGGAACATCTGACAAAAT	0.468																																																	0													70	70	70					10																	37430831		1880	4129	6009	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.838T>G	10.37:g.37430831T>G	ENSP00000473551:p.Ser280Ala		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S280A	ENST00000602533.1	37	c.838		10	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.472291	0.01044	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06687	3.27;3.27	0.675	-1.35	0.09114	.	.	.	.	.	T	0.06096	0.0158	L	0.40543	1.245	0.09310	N	1	B	0.28636	0.218	B	0.31946	0.138	T	0.46331	-0.9199	9	0.13470	T	0.59	.	4.2931	0.10888	0.0:0.5393:0.0:0.4607	.	336	Q9BXX3	AN30A_HUMAN	A	280	ENSP00000354432:S280A;ENSP00000363792:S280A	ENSP00000354432:S280A	S	+	1	0	ANKRD30A	37470837	0.705000	0.27846	0.001000	0.08648	0.003000	0.03518	-0.467000	0.06664	-0.942000	0.03695	-0.788000	0.03338	TCT	ANKRD30A	-	NULL	ENSG00000148513		0.468	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	161	0	T	NM_052997		37430831	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	8.66	116	11	SNP	0.001	G	G	37430831	T	G	37430831	3	3	77	1	0	0	0	0	1	0	0	0	658	1435	50	4	864	4	ANKRD30A	10	37430831	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	8551100	37430831	98103916	160	20227											
RBP3	5949	genome.wustl.edu	37	chr10	48389059	48389059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccactccaccacccaGccaggcctcgccgtgattgt	7	6	10	18	2	0	1	0	1	0	0	2	1	1	1	7	2	1	1	7	2	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:48389059G>T	ENST00000224600.4	-	1	1932	c.1819C>A	c.(1819-1821)Ctg>Atg	p.L607M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	607	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCACCACCCAGCCAGGCCTCG	0.672																																																	0													35	38	37					10																	48389059		2197	4295	6492	SO:0001583	missense	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1819C>A	10.37:g.48389059G>T	ENSP00000224600:p.Leu607Met		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.L607M	ENST00000224600.4	37	c.1819	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	G	9.805	1.181658	0.21787	.	.	ENSG00000107618	ENST00000224600	T	0.62941	-0.01	5.43	4.53	0.55603	Interphotoreceptor retinol-binding (2);	0.083806	0.48286	D	0.000193	T	0.57651	0.2068	L	0.57536	1.79	0.46542	D	0.999098	D	0.64830	0.994	P	0.46685	0.524	T	0.58645	-0.7600	10	0.42905	T	0.14	-17.8418	5.5249	0.16953	0.1647:0.0:0.6652:0.1701	.	607	P10745	RET3_HUMAN	M	607	ENSP00000224600:L607M	ENSP00000224600:L607M	L	-	1	2	RBP3	48009065	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.521000	0.45563	1.310000	0.45006	0.561000	0.74099	CTG	RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0	38	0	G	NM_002900		48389059	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	T	T	48389059	G	T	48389059	3	4	77	1	0	0	0	0	1	0	0	0	13202	962	34	3	1940	3	RBP3	10	48389059	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	10958228	48389059	87145688	161	20228											
ANK3	288	genome.wustl.edu	37	chr10	62149194	62149194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catagatacctttttcttccGatcccgggaccgtttgcggt	6	14	9	12	4	1	1	0	0	1	1	3	3	3	2	4	2	2	1	4	2	2	6	rs139879505		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:62149194G>A	ENST00000280772.2	-	1	294	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	35					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTTCTTCCGATCCCGGGAC	0.408													G|||	1	0.000199681	8e-04	0	5008	,	,		19133	0		0	False		,,,				2504	0																0								G	,,TRP/ARG	4,4400	8.1+/-20.4	0,4,2198	157	148	151		,,103	6	1	10	dbSNP_134	151	0,8600		0,0,4300	no	intron,intron,missense	ANK3	NM_001204403.1,NM_001204404.1,NM_020987.3	,,101	0,4,6498	AA,AG,GG		0.0,0.0908,0.0308	,,probably-damaging	,,35/4378	62149194	4,13000	2202	4300	6502	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.103C>T	10.37:g.62149194G>A	ENSP00000280772:p.Arg35Trp		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R35W	ENST00000280772.2	37	c.103	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451289	0.63290	9.08E-4	0.0	ENSG00000151150	ENST00000280772	T	0.65732	-0.17	5.96	5.96	0.96718	.	0.000000	0.30869	U	0.008712	T	0.60170	0.2248	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	P	0.62885	0.908	T	0.67538	-0.5645	10	0.87932	D	0	.	14.2691	0.66140	0.0:0.0:0.8514:0.1486	.	35	Q12955	ANK3_HUMAN	W	35	ENSP00000280772:R35W	ENSP00000280772:R35W	R	-	1	2	ANK3	61819200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.516000	0.67055	2.832000	0.97577	0.655000	0.94253	CGG	ANK3	-	NULL	ENSG00000151150		0.408	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	32	0	G	NM_020987		62149194	-1	tier1	rs139879505	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	A	A	62149194	G	A	62149194	3	1	77	1	0	0	0	0	1	0	0	0	622	1057	37	1	13535	1	ANK3	10	62149194	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	13760135	62149194	73385553	162	20229											
GRID1	2894	genome.wustl.edu	37	chr10	87487698	87487698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaggggcttggtaaatctCatatttaaagcccagagcct	12	11	9	9	0	2	1	2	0	1	1	3	1	2	1	2	3	2	2	2	3	5	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:87487698C>T	ENST00000327946.7	-	10	1532	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	GRID1_ENST00000536331.1_Missense_Mutation_p.E54K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	483					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGGTAAATCTCATATTTAAAG	0.542										Multiple Myeloma(13;0.14)																																							0													159	153	155					10																	87487698		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1447G>A	10.37:g.87487698C>T	ENSP00000330148:p.Glu483Lys		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E483K	ENST00000327946.7	37	c.1447	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675285	0.67928	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.32272	1.46;1.46	5.7	5.7	0.88788	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.329895	0.36932	N	0.002328	T	0.28732	0.0712	L	0.43598	1.365	0.80722	D	1	B	0.24317	0.101	B	0.19946	0.027	T	0.05937	-1.0855	10	0.16420	T	0.52	.	18.8088	0.92050	0.0:1.0:0.0:0.0	.	483	Q9ULK0	GRID1_HUMAN	K	483;54	ENSP00000330148:E483K;ENSP00000444455:E54K	ENSP00000330148:E483K	E	-	1	0	GRID1	87477678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.037000	0.70956	2.688000	0.91661	0.603000	0.83216	GAG	GRID1	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	ENSG00000182771		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3		0	79	0	C	XM_043613		87487698	-1			no_errors	ENST00000327946	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	87487698	C	T	87487698	3	4	77	1	0	0	0	0	1	0	0	0	6798	835	29	3	1610	3	GRID1	10	87487698	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	25338504	87487698	48047049	163	20230											
PAPSS2	9060	genome.wustl.edu	37	chr10	89475508	89475508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatctccagtgggtccAggttttgagcgaaggctggg	6	10	17	8	1	1	1	0	1	1	0	3	3	2	2	2	5	1	3	2	5	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:89475508A>G	ENST00000361175.4	+	7	1142	c.773A>G	c.(772-774)cAg>cGg	p.Q258R	PAPSS2_ENST00000427144.2_Missense_Mutation_p.Q262R|PAPSS2_ENST00000456849.1_Missense_Mutation_p.Q258R	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	258					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CAGTGGGTCCAGGTTTTGAGC	0.468																																																	0													120	113	115					10																	89475508		2203	4300	6503	SO:0001583	missense	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.773A>G	10.37:g.89475508A>G	ENSP00000354436:p.Gln258Arg		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.Q258R	ENST00000361175.4	37	c.773	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622384	0.87460	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.22743	1.94;1.94;1.94	5.44	5.44	0.79542	Sulphate adenylyltransferase (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.92507	3.315	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.91635	0.999;0.995	T	0.68872	-0.5294	10	0.87932	D	0	-19.1868	15.5104	0.75776	1.0:0.0:0.0:0.0	.	258;258	O95340;O95340-2	PAPS2_HUMAN;.	R	258;258;262;257	ENSP00000354436:Q258R;ENSP00000406157:Q258R;ENSP00000397123:Q262R	ENSP00000354436:Q258R	Q	+	2	0	PAPSS2	89465488	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	8.855000	0.92236	2.056000	0.61249	0.459000	0.35465	CAG	PAPSS2	-	superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase	ENSG00000198682		0.468	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1	-	0	88	0	A			89475508	1	tier1	-	no_errors	ENST00000456849	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G	G	89475508	A	G	89475508	3	3	77	1	0	0	0	0	1	0	0	0	11474	188	7	4	799	4	PAPSS2	10	89475508	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	1987810	89475508	46059239	164	20231											
WNT8B	7479	genome.wustl.edu	37	chr10	102240762	102240762	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttcctgctagccaatcgGgagacagcatttgtgcatgc	8	11	12	10	1	0	1	0	0	0	1	2	2	1	1	2	2	5	4	2	2	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:102240762G>T	ENST00000343737.5	+	4	377	c.249G>T	c.(247-249)cgG>cgT	p.R83R		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	83					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TAGCCAATCGGGAGACAGCAT	0.433																																																	0													138	123	128					10																	102240762		2203	4300	6503	SO:0001819	synonymous_variant	0			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"Wingless-type MMTV integration sites"	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.249G>T	10.37:g.102240762G>T			O00771|Q5VX55|Q8WYK9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.R83	ENST00000343737.5	37	c.249	CCDS7494.1	10																																																																																			WNT8B	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000075290		0.433	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	-	0	63	0	G	NM_003393		102240762	1	tier1	-	no_errors	ENST00000343737	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.975	T	T	102240762	G	T	102240762	2	4	77	1	0	0	0	0	0	0	0	1	17446	1219	43	3		3	WNT8B	10	102240762	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	12765254	102240762	33293985	165	20232											
TACC2	10579	genome.wustl.edu	37	chr10	123845396	123845396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcaaggtggtgaagcCggggctgctgagactggtgg	7	6	22	6	1	0	2	0	2	0	1	0	4	0	3	1	8	3	3	1	8	2	0	rs140254775		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:123845396C>T	ENST00000369005.1	+	4	3721	c.3381C>T	c.(3379-3381)gcC>gcT	p.A1127A	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.A1127A|TACC2_ENST00000334433.3_Silent_p.A1127A|TACC2_ENST00000515273.1_Silent_p.A1127A|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.A1127A	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1127					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGGTGAAGCCGGGGCTGCTG	0.602																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	41	44	43		,3381	-9.8	0	10	dbSNP_134	43	0,8600		0,0,4300	no	intron,coding-synonymous	TACC2	NM_206861.1,NM_206862.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,1127/2949	123845396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3381C>T	10.37:g.123845396C>T			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.A1127	ENST00000369005.1	37	c.3381	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	-	0	132	0	C			123845396	1	tier1	rs140254775	no_errors	ENST00000334433	ensembl	human	known	74_37	silent	14.00	86	14	SNP	0.000	T	T	123845396	C	T	123845396	2	4	77	1	0	0	0	0	0	0	0	1	15549	639	23	1		1	TACC2	10	123845396	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	21604634	123845396	11689351	166	20233											
CHST15	51363	genome.wustl.edu	37	chr10	125771915	125771915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgcatgatcttccaggcGaagaatgagaaactgttgct	12	10	12	7	1	1	3	0	2	1	2	2	6	2	4	1	2	3	3	1	2	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:125771915G>A	ENST00000346248.5	-	7	2071	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	CHST15_ENST00000435907.1_Missense_Mutation_p.R477C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	477					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)	p.R477C(1)		endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTTCCAGGCGAAGAATGAGA	0.502																																																	1	Substitution - Missense(1)	large_intestine(1)											150	113	126					10																	125771915		2203	4300	6503	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1429C>T	10.37:g.125771915G>A	ENSP00000333947:p.Arg477Cys		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R477C	ENST00000346248.5	37	c.1429	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994998	0.74703	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	D;D	0.84070	-1.8;-1.8	5.16	5.16	0.70880	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90653	0.4584	10	0.72032	D	0.01	-29.5448	13.5935	0.61975	0.0:0.0:0.8447:0.1552	.	477	Q7LFX5	CHSTF_HUMAN	C	477	ENSP00000333947:R477C;ENSP00000402394:R477C	ENSP00000333947:R477C	R	-	1	0	CHST15	125761905	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	5.449000	0.66619	2.402000	0.81655	0.655000	0.94253	CGC	CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.502	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	-	0	74	0	G	NM_015892		125771915	-1	tier1	-	no_errors	ENST00000346248	ensembl	human	known	74_37	missense	16.18	57	11	SNP	0.989	A	A	125771915	G	A	125771915	3	1	77	1	0	0	0	0	1	0	0	0	3410	1058	37	1	264	1	CHST15	10	125771915	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1926519	125771915	9762832	167	20234											
FAM53B	9679	genome.wustl.edu	37	chr10	126370884	126370884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcaggcattcccagatGctggtgctcggttggtcaat	7	11	13	10	1	2	1	2	0	0	1	4	1	3	1	1	5	2	5	1	5	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:126370884G>T	ENST00000337318.3	-	4	409	c.198C>A	c.(196-198)agC>agA	p.S66R	FAM53B_ENST00000280780.6_Missense_Mutation_p.S66R|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.S66R	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	66										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		ATTCCCAGATGCTGGTGCTCG	0.522																																																	0													57	52	54					10																	126370884		2203	4300	6503	SO:0001583	missense	0			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.198C>A	10.37:g.126370884G>T	ENSP00000338532:p.Ser66Arg		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	NULL	p.S66R	ENST00000337318.3	37	c.198	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361801	0.61403	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.50001	0.76;0.76;0.76	5.26	5.26	0.73747	.	0.176516	0.64402	D	0.000009	T	0.43831	0.1265	L	0.50333	1.59	0.45439	D	0.998419	P;P;P	0.42203	0.573;0.773;0.573	B;B;B	0.38616	0.219;0.277;0.219	T	0.47471	-0.9115	10	0.56958	D	0.05	-18.2554	14.4777	0.67559	0.073:0.0:0.927:0.0	.	66;66;66	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	R	66	ENSP00000338532:S66R;ENSP00000376509:S66R;ENSP00000280780:S66R	ENSP00000280780:S66R	S	-	3	2	FAM53B	126360874	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.172000	0.58243	2.601000	0.87937	0.655000	0.94253	AGC	FAM53B	-	NULL	ENSG00000189319		0.522	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	-	0	98	0	G	NM_014661		126370884	-1	tier1	-	no_errors	ENST00000337318	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	126370884	G	T	126370884	3	4	77	1	0	0	0	0	1	0	0	0	5602	1310	46	3	1078	3	FAM53B	10	126370884	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	598969	126370884	9163863	168	20235											
PAOX	196743	genome.wustl.edu	37	chr10	135202509	135202509	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacttgagtctgagttcAtggagactctgtcggatgaa	9	11	13	8	2	3	4	1	3	2	1	4	7	3	6	1	3	0	1	1	3	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr10:135202509A>T	ENST00000278060.5	+	5	1254	c.1171A>T	c.(1171-1173)Atg>Ttg	p.M391L	RP11-108K14.8_ENST00000468317.2_5'Flank|PAOX_ENST00000357296.3_Missense_Mutation_p.M391L|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.S306S|PAOX_ENST00000368539.4_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	529					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GTCTGAGTTCATGGAGACTCT	0.542																																																	0													300	299	299					10																	135202509		2203	4300	6503	SO:0001583	missense	0			BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.1171A>T	10.37:g.135202509A>T	ENSP00000278060:p.Met391Leu		D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Missense_Mutation	SNP	pfam_Amino_oxidase	p.M391L	ENST00000278060.5	37	c.1171	CCDS7683.1	10	.	.	.	.	.	.	.	.	.	.	a	21.0	4.075936	0.76415	.	.	ENSG00000148832	ENST00000368542;ENST00000368538;ENST00000278060;ENST00000357296	D;D	0.91996	-2.95;-2.95	5.54	5.54	0.83059	.	0.075117	0.85682	D	0.000000	D	0.89012	0.6594	.	.	.	0.80722	D	1	B;P	0.40638	0.009;0.725	B;B	0.36666	0.091;0.23	D	0.89621	0.3848	9	0.59425	D	0.04	-58.5921	13.6352	0.62219	1.0:0.0:0.0:0.0	.	391;391	Q6QHF9-4;Q6QHF9-2	.;.	L	343;112;391;391	ENSP00000278060:M391L;ENSP00000349847:M391L	ENSP00000278060:M391L	M	+	1	0	PAOX	135052499	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.704000	0.91351	2.097000	0.63578	0.533000	0.62120	ATG	PAOX	-	pfam_Amino_oxidase	ENSG00000148832		0.542	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAOX	HGNC	protein_coding	OTTHUMT00000051146.2	-	0	71	0	A	NM_152911		135202509	1	tier1	-	no_errors	ENST00000278060	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	T	T	135202509	A	T	135202509	3	4	77	1	0	0	0	0	1	0	0	0	11462	217	8	5	1189	5	PAOX	10	135202509	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	8831625	135202509	332238	169	20236											
MUC5B	727897	genome.wustl.edu	37	chr11	1278475	1278475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttctttccagcctgcGtgggacccgatgggtttcct	3	15	11	12	2	1	0	0	0	1	0	3	2	3	1	4	2	2	2	4	2	0	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:1278475G>A	ENST00000529681.1	+	40	16301	c.16243G>A	c.(16243-16245)Gtg>Atg	p.V5415M	MUC5B_ENST00000447027.1_Missense_Mutation_p.V5418M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5415	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCAGCCTGCGTGGGACCCGA	0.632																																																	0													98	107	104					11																	1278475		2027	4175	6202	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16243G>A	11.37:g.1278475G>A	ENSP00000436812:p.Val5415Met		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V5418M	ENST00000529681.1	37	c.16252	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	9.682	1.149656	0.21288	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000546052;ENST00000406844	T;T	0.57752	0.38;0.38	4.91	3.98	0.46160	.	.	.	.	.	T	0.70552	0.3237	M	0.78456	2.415	0.21064	N	0.999792	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	T	0.60434	-0.7264	9	0.87932	D	0	.	11.801	0.52126	0.092:0.0:0.908:0.0	.	5752;5418	A7Y9J9;E9PBJ0	.;.	M	5415;5418;5359;314;5127	ENSP00000436812:V5415M;ENSP00000415793:V5418M	ENSP00000343037:V5359M	V	+	1	0	MUC5B	1235051	0.022000	0.18835	1.000000	0.80357	0.342000	0.28953	0.348000	0.20031	2.444000	0.82710	0.549000	0.68633	GTG	MUC5B	-	smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000117983		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	52	0	G	XM_001126093		1278475	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A	A	1278475	G	A	1278475	3	1	77	1	0	0	0	0	1	0	0	0	10017	1145	40	1	16410	1	MUC5B	11	1278475	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		1278475	133728041	170	20237											
OR52A4	390053	genome.wustl.edu	37	chr11	5142749	5142749	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acagattcaaaaccggggatCccaataaatgtcagcacaaa	18	6	7	10	1	2	1	2	0	0	1	3	2	3	2	2	2	2	1	2	2	6	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:5142749C>G	ENST00000498233.1	-	0	649							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCGGGGATCCCAATAAATG	0.428																																																	0													121	121	121					11																	5142749		2201	4298	6499			0					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"GPCR / Class A : Olfactory receptors"	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142749C>G				RNA	SNP	-	NULL	ENST00000498233.1	37	NULL		11																																																																																			OR52A4	-	-	ENSG00000205494		0.428	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	-	0	75	0	C	NG_029079		5142749	-1	tier1	-	no_errors	ENST00000481634	ensembl	human	known	74_37	rna	20.00	36	9	SNP	0.976	G	G	5142749	C	G	5142749	1	3	77	0	1	0	0	0	0	0	0	0	11148	842	30	5		5	OR52A4	11	5142749	RNA	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	3864274	5142749	129863767	171	20238											
RBMXL2	27288	genome.wustl.edu	37	chr11	7111237	7111237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcggcgccgccccaggaCgggggacaccgccatcttac	6	4	14	17	6	1	0	0	0	1	0	1	2	1	2	5	4	2	0	5	4	1	1	rs376176065		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:7111237C>T	ENST00000306904.5	+	1	1073	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	296	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCCCCAGGACGGGGGACACC	0.667													C|||	1	0.000199681	0	0	5008	,	,		12922	0		0	False		,,,				2504	0.001																0								C	TRP/ARG	0,4384		0,0,2192	16	20	19		886	2.4	0.1	11		19	1,8561		0,1,4280	no	missense	RBMXL2	NM_014469.4	101	0,1,6472	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	296/393	7111237	1,12945	2192	4281	6473	SO:0001583	missense	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.886C>T	11.37:g.7111237C>T	ENSP00000304139:p.Arg296Trp		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R296W	ENST00000306904.5	37	c.886	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272150	0.23221	0.0	1.17E-4	ENSG00000170748	ENST00000306904	T	0.80994	-1.44	3.32	2.4	0.29515	.	0.000000	0.64402	U	0.000001	D	0.84005	0.5377	L	0.50333	1.59	0.42130	D	0.991461	D	0.89917	1.0	D	0.83275	0.996	T	0.82792	-0.0282	10	0.54805	T	0.06	.	8.3188	0.32117	0.4298:0.5702:0.0:0.0	.	296	O75526	HNRGT_HUMAN	W	296	ENSP00000304139:R296W	ENSP00000304139:R296W	R	+	1	2	RBMXL2	7067813	0.944000	0.32072	0.133000	0.22050	0.040000	0.13550	1.794000	0.38774	0.962000	0.38057	-0.224000	0.12420	CGG	RBMXL2	-	NULL	ENSG00000170748		0.667	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	90	0	C	NM_014469		7111237	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	missense	60.40	40	61	SNP	0.672	T	T	7111237	C	T	7111237	3	4	77	1	0	0	0	0	1	0	0	0	13199	527	19	1	888	1	RBMXL2	11	7111237	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1968488	7111237	127895279	172	20239											
KCNA4	3739	genome.wustl.edu	37	chr11	30032617	30032617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggacccgacaatcttgcCccctacagtgatgggcttca	9	8	10	14	1	2	1	1	1	1	0	2	3	2	2	3	2	2	1	3	2	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:30032617C>A	ENST00000328224.6	-	2	2842	c.1609G>T	c.(1609-1611)Ggc>Tgc	p.G537C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	537					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	ACAATCTTGCCCCCTACAGTG	0.498																																																	0													59	62	61					11																	30032617		2188	4296	6484	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1609G>T	11.37:g.30032617C>A	ENSP00000328511:p.Gly537Cys			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G537C	ENST00000328224.6	37	c.1609	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750692	0.69533	.	.	ENSG00000182255	ENST00000328224	D	0.98313	-4.86	5.69	5.69	0.88448	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.99951	5.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	10	0.87932	D	0	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	537	P22459	KCNA4_HUMAN	C	537	ENSP00000328511:G537C	ENSP00000328511:G537C	G	-	1	0	KCNA4	29989193	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.679000	0.91253	0.650000	0.86243	GGC	KCNA4	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000182255		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	-	0	79	0	C	NM_002233		30032617	-1	tier1	-	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	34.21	50	26	SNP	1.000	A	A	30032617	C	A	30032617	3	1	77	1	0	0	0	0	1	0	0	0	8032	623	22	3	356	3	KCNA4	11	30032617	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	22921380	30032617	104973899	173	20240											
C11orf41	25758	genome.wustl.edu	37	chr11	33566864	33566864	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggctgcagtggtcacgActggcaaaatggcatccaac	11	7	11	12	2	1	0	1	0	0	0	3	1	2	0	1	4	2	4	1	4	3	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:33566864A>T	ENST00000321505.4	+	2	2614	c.2434A>T	c.(2434-2436)Act>Tct	p.T812S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.T818S|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.T818S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	812						integral component of membrane (GO:0016021)											AGTGGTCACGACTGGCAAAAT	0.537																																																	0													32	38	36					11																	33566864		2121	4250	6371	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2434A>T	11.37:g.33566864A>T	ENSP00000315295:p.Thr812Ser		B0QYU0	Missense_Mutation	SNP	NULL	p.T818S	ENST00000321505.4	37	c.2452	CCDS44565.2	11	.	.	.	.	.	.	.	.	.	.	A	2.365	-0.345727	0.05208	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.81	-0.962	0.10333	.	0.509084	0.21145	N	0.079407	T	0.29190	0.0726	L	0.60455	1.87	0.09310	N	1	B;B	0.18863	0.031;0.001	B;B	0.11329	0.006;0.002	T	0.15407	-1.0438	9	0.25751	T	0.34	-0.4002	2.8052	0.05425	0.5464:0.2189:0.1274:0.1073	.	818;818	E9PAT2;Q6ZVL6-2	.;.	S	812;818;818;651	.	ENSP00000265654:T818S	T	+	1	0	C11orf41	33523440	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.275000	0.18698	-0.372000	0.07992	-1.967000	0.00467	ACT	KIAA1549L	-	NULL	ENSG00000110427		0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1549L	HGNC	protein_coding	OTTHUMT00000317998.1	-	0	42	0	A	NM_012194		33566864	1	tier1	-	no_errors	ENST00000389726	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.000	T	T	33566864	A	T	33566864	3	4	77	1	0	0	0	0	1	0	0	0	1645	275	10	5	2458	5	C11orf41	11	33566864	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	3534247	33566864	101439652	174	20241											
OR8K3	219473	genome.wustl.edu	37	chr11	56086212	56086212	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgaagggtatgtcaggtgCtggtagcaatcccttacctc	9	10	11	11	1	1	0	1	0	0	0	3	1	2	0	2	3	3	4	2	3	5	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:56086212C>T	ENST00000312711.1	+	1	430	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGTCAGGTGCTGGTAGCAAT	0.408																																																	0													121	117	118					11																	56086212		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"GPCR / Class A : Olfactory receptors"	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.430C>T	11.37:g.56086212C>T			Q6IFC4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L144	ENST00000312711.1	37	c.430	CCDS31527.1	11																																																																																			OR8K3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181689		0.408	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	-	0	39	0	C	NM_001005202		56086212	1	tier1	-	no_errors	ENST00000312711	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.158	T	T	56086212	C	T	56086212	2	4	77	1	0	0	0	0	0	0	0	1	11283	796	28	3		3	OR8K3	11	56086212	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	22519348	56086212	78920304	175	20242											
CCDC86	79080	genome.wustl.edu	37	chr11	60609977	60609977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaggaggcaccaaagtGttctcaggaccagggagtac	13	6	14	8	0	1	1	1	1	1	0	2	4	1	4	2	4	1	3	2	4	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:60609977G>A	ENST00000227520.5	+	1	434	c.380G>A	c.(379-381)tGt>tAt	p.C127Y	RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	127	Pro-rich.				viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GCACCAAAGTGTTCTCAGGAC	0.607																																																	0													65	64	64					11																	60609977		2203	4298	6501	SO:0001583	missense	0			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.380G>A	11.37:g.60609977G>A	ENSP00000227520:p.Cys127Tyr		B4DY99	Missense_Mutation	SNP	NULL	p.C127Y	ENST00000227520.5	37	c.380	CCDS7993.1	11	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.651232	0.00785	.	.	ENSG00000110104	ENST00000227520	T	0.41065	1.01	3.81	-7.61	0.01299	.	2.125850	0.01721	N	0.028290	T	0.25606	0.0623	L	0.40543	1.245	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.02654	T	1	6.0863	6.0152	0.19598	0.0953:0.4588:0.3043:0.1417	.	127	Q9H6F5	CCD86_HUMAN	Y	127	ENSP00000227520:C127Y	ENSP00000227520:C127Y	C	+	2	0	CCDC86	60366553	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.290000	0.01148	-2.538000	0.00487	-0.397000	0.06425	TGT	CCDC86	-	NULL	ENSG00000110104		0.607	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC86	HGNC	protein_coding	OTTHUMT00000395743.1	-	0	47	0	G	NM_024098		60609977	1	tier1	-	no_errors	ENST00000227520	ensembl	human	known	74_37	missense	51.52	16	17	SNP	0.000	A	A	60609977	G	A	60609977	3	1	77	1	0	0	0	0	1	0	0	0	2868	1377	48	3	382	3	CCDC86	11	60609977	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	4523765	60609977	74396539	176	20243											
PCNXL3	399909	genome.wustl.edu	37	chr11	65396125	65396125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatcgcgccctggcagatCacctggggctcggctttcca	6	9	11	15	3	1	1	1	0	0	1	4	1	2	1	3	4	1	3	3	4	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:65396125C>T	ENST00000355703.3	+	23	4301	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1254						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCTGGCAGATCACCTGGGGCT	0.612																																																	0													63	66	65					11																	65396125		2111	4222	6333	SO:0001819	synonymous_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3762C>T	11.37:g.65396125C>T			Q6MZN8	Silent	SNP	pfam_Pecanex	p.I1254	ENST00000355703.3	37	c.3762	CCDS44650.1	11																																																																																			PCNXL3	-	NULL	ENSG00000197136		0.612	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0	63	0	C	NM_032223		65396125	1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	silent	46.15	35	30	SNP	1.000	T	T	65396125	C	T	65396125	2	4	77	1	0	0	0	0	0	0	0	1	11632	816	29	3		3	PCNXL3	11	65396125	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	4786148	65396125	69610391	177	20244											
PACS1	55690	genome.wustl.edu	37	chr11	65983997	65983999	+	In_Frame_Del	DEL	CTC	CTC	-																															ggtgtctgttgcagatcgttCtcctgatattgacaattatt																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:65983997_65983999delCTC	ENST00000320580.4	+	6	845_847	c.812_814delCTC	c.(811-816)tctcct>tct	p.P272del		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	272					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCAGATCGTTCTCCTGATATTGA	0.453																																																	0																																										SO:0001651	inframe_deletion	0			AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.812_814delCTC	11.37:g.65983997_65983999delCTC	ENSP00000316454:p.Pro272del		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	In_Frame_Del	DEL	pfam_Phosphofurin_acidic_CS-1	p.P272in_frame_del	ENST00000320580.4	37	c.812_814	CCDS8129.1	11																																																																																			PACS1	-	NULL	ENSG00000175115		0.453	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACS1	HGNC	protein_coding	OTTHUMT00000391690.2		0	80	0	CTC	NM_018026		65983999	1	tier1		no_errors	ENST00000320580	ensembl	human	known	74_37	in_frame_del	22.89	64	19	DEL	1.000:0.940:1.000	-	-	65983999	CTC	-	65983997	7	5	77	1	0	1	0	1	0	0	0	0	11411	913	32	0	834	0	PACS1	11	65983997	In_Frame_Del	DEL	CTC	TCGA-L5-A891-01A-11D-A36J-09	587872	65983997	69022519	178	20245											
SUV420H1	51111	genome.wustl.edu	37	chr11	67939153	67939153	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcaatacaacccaccagtAattctattttgtcatttcgt	11	14	5	11	2	2	0	1	0	1	0	3	0	2	0	2	1	2	2	2	1	5	7			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:67939153A>T	ENST00000304363.4	-	7	1030	c.677T>A	c.(676-678)tTa>tAa	p.L226*	SUV420H1_ENST00000405515.1_Nonsense_Mutation_p.L226*|SUV420H1_ENST00000401547.2_Nonsense_Mutation_p.L226*|SUV420H1_ENST00000402185.2_Nonsense_Mutation_p.L203*|SUV420H1_ENST00000402789.1_Nonsense_Mutation_p.L226*	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	226	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACCCACCAGTAATTCTATTTT	0.313																																																	0													94	92	93					11																	67939153		2200	4294	6494	SO:0001587	stop_gained	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.677T>A	11.37:g.67939153A>T	ENSP00000305899:p.Leu226*		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Nonsense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L226*	ENST00000304363.4	37	c.677	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	A	29.2	4.983531	0.93044	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	.	.	.	5.73	5.73	0.89815	.	0.223506	0.38164	N	0.001784	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.287	16.3197	0.82945	1.0:0.0:0.0:0.0	.	.	.	.	X	226;226;226;226;203;54	.	ENSP00000305899:L226X	L	-	2	0	SUV420H1	67695729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.321000	0.65846	2.302000	0.77476	0.533000	0.62120	TTA	SUV420H1	-	smart_SET_dom	ENSG00000110066		0.313	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	-	0	88	0	A	NM_017635		67939153	-1	tier1	-	no_errors	ENST00000304363	ensembl	human	known	74_37	nonsense	53.16	37	42	SNP	1.000	T	T	67939153	A	T	67939153	4	4	77	1	0	0	0	0	0	1	0	0	15461	372	13	5	2008	5	SUV420H1	11	67939153	Nonsense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	1955156	67939153	67067363	179	20246											
CAPN5	726	genome.wustl.edu	37	chr11	76823745	76823745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgggtggacgtggtcatCgatgaccggctgcccacagt	8	8	15	10	3	1	1	1	1	0	0	2	4	1	2	2	4	1	1	2	4	1	0	rs369649104	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:76823745C>T	ENST00000278559.3	+	4	597	c.408C>T	c.(406-408)atC>atT	p.I136I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.I136I|CAPN5_ENST00000456580.2_Silent_p.I176I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	136	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						ACGTGGTCATCGATGACCGGC	0.582													C|||	5	0.000998403	0	0	5008	,	,		18105	0		0	False		,,,				2504	0.0051																0													108	84	92					11																	76823745		2200	4292	6492	SO:0001819	synonymous_variant	0				CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"vitreoretinopathy, neovascular inflammatory"	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.408C>T	11.37:g.76823745C>T			O00263	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.I136	ENST00000278559.3	37	c.408	CCDS8248.1	11																																																																																			CAPN5	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000149260		0.582	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN5	HGNC	protein_coding	OTTHUMT00000382564.2		0	71	0	C	NM_004055		76823745	1			no_errors	ENST00000278559	ensembl	human	known	74_37	silent	8.47	54	5	SNP	0.915	T	T	76823745	C	T	76823745	2	4	77	1	0	0	0	0	0	0	0	1	2636	874	31	1		1	CAPN5	11	76823745	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	8884592	76823745	58182771	180	20247											
CCDC81	60494	genome.wustl.edu	37	chr11	86106378	86106378	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgttgctgtcctctagagGcctggcactgtggactcggt	4	13	13	11	1	2	1	0	0	2	1	4	2	3	2	2	4	1	3	2	4	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:86106378G>T	ENST00000445632.2	+	5	830	c.558G>T	c.(556-558)agG>agT	p.R186S	CCDC81_ENST00000528728.1_5'UTR|CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Missense_Mutation_p.R96S	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	186										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TCCTCTAGAGGCCTGGCACTG	0.527																																																	0													181	147	159					11																	86106378		2202	4299	6501	SO:0001583	missense	0			AK131331	CCDS8276.1, CCDS53691.1	11q14.2	2006-03-09			ENSG00000149201	ENSG00000149201			26281	protein-coding gene	gene with protein product							Standard	NM_001156474		Approved	FLJ16339, FLJ23514	uc001pbx.2	Q6ZN84	OTTHUMG00000167213	ENST00000445632.2:c.558G>T	11.37:g.86106378G>T	ENSP00000415528:p.Arg186Ser		A0AVL7|Q53FW3|Q9H5E5	Missense_Mutation	SNP	superfamily_IHF-like_DNA-bd_dom	p.R186S	ENST00000445632.2	37	c.558	CCDS53691.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424996	0.43020	.	.	ENSG00000149201	ENST00000354755;ENST00000531271;ENST00000445632	T;T;T	0.29655	1.56;1.56;1.56	5.33	2.44	0.29823	.	0.055638	0.64402	D	0.000002	T	0.48205	0.1487	M	0.65498	2.005	0.80722	D	1	D;B	0.89917	1.0;0.009	D;B	0.91635	0.999;0.009	T	0.32455	-0.9906	9	.	.	.	-21.2694	8.6616	0.34097	0.2459:0.0:0.7541:0.0	.	186;96	Q6ZN84;Q6ZN84-2	CCD81_HUMAN;.	S	96;48;186	ENSP00000346800:R96S;ENSP00000434959:R48S;ENSP00000415528:R186S	.	R	+	3	2	CCDC81	85784026	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.271000	0.33098	0.329000	0.23460	0.563000	0.77884	AGG	CCDC81	-	NULL	ENSG00000149201		0.527	CCDC81-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC81	HGNC	protein_coding	OTTHUMT00000393756.1	-	0	63	0	G	NM_021827		86106378	1	tier1	-	no_errors	ENST00000445632	ensembl	human	known	74_37	missense	13.43	58	9	SNP	1.000	T	T	86106378	G	T	86106378	3	4	77	1	0	0	0	0	1	0	0	0	2862	1194	42	3	576	3	CCDC81	11	86106378	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	9282633	86106378	48900138	181	20248											
MRE11A	4361	genome.wustl.edu	37	chr11	94153333	94153335	+	In_Frame_Del	DEL	ATC	ATC	-																															gaactagtgttcataaaaggAtcatcatcatcatcctgaaa																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	ATC	ATC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:94153333_94153335delATC	ENST00000323929.3	-	20	2305_2307	c.2083_2085delGAT	c.(2083-2085)gatdel	p.D695del	MRE11A_ENST00000407439.3_In_Frame_Del_p.D698del|MRE11A_ENST00000393241.4_In_Frame_Del_p.D694del|MRE11A_ENST00000323977.3_In_Frame_Del_p.D667del	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	695					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TCATAAAAGGATCATCATCATCA	0.325								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.2083_2085delGAT	11.37:g.94153342_94153344delATC	ENSP00000325863:p.Asp695del		O43475	In_Frame_Del	DEL	pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.D695in_frame_del	ENST00000323929.3	37	c.2085_2083	CCDS8299.1	11																																																																																			MRE11A	-	pirsf_DNA_repair_Mre11	ENSG00000020922		0.325	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3		0	28	0	ATC	NM_005591		94153335	-1	tier1		no_errors	ENST00000323929	ensembl	human	known	74_37	in_frame_del	6.90	27	2	DEL	0.990:1.000:1.000	-	-	94153335	ATC	-	94153333	7	5	77	1	0	1	0	1	0	0	0	0	9797	330	12	0	45	0	MRE11A	11	94153333	In_Frame_Del	DEL	ATC	TCGA-L5-A891-01A-11D-A36J-09	8046955	94153333	40853183	182	20249											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103025285	103025285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgggccttttatgaagaGtttcaacaaggatttcagga	12	14	10	5	0	2	2	2	1	0	1	2	4	2	4	1	3	1	1	1	3	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:103025285G>T	ENST00000375735.2	+	23	3552	c.3408G>T	c.(3406-3408)gaG>gaT	p.E1136D	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E1136D	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1136	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTATGAAGAGTTTCAACAAG	0.353																																																	0													28	27	27					11																	103025285		1820	4068	5888	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3408G>T	11.37:g.103025285G>T	ENSP00000364887:p.Glu1136Asp		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E1136D	ENST00000375735.2	37	c.3408	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	10.40	1.339004	0.24253	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.61980	0.06;0.06	5.16	-3.44	0.04796	Dynein heavy chain, domain-2 (1);	0.116646	0.32518	U	0.006000	T	0.43211	0.1237	L	0.33792	1.035	0.32061	N	0.595694	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.004	T	0.43798	-0.9369	10	0.12430	T	0.62	.	13.4042	0.60900	0.5272:0.0:0.4728:0.0	.	1136;1136	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	D	1136	ENSP00000364887:E1136D;ENSP00000381167:E1136D	ENSP00000364887:E1136D	E	+	3	2	DYNC2H1	102530495	0.979000	0.34478	0.976000	0.42696	0.986000	0.74619	0.145000	0.16157	-0.541000	0.06257	-0.261000	0.10672	GAG	DYNC2H1	-	pfam_Dynein_heavy_dom-2	ENSG00000187240		0.353	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	116	0	G	XM_370652		103025285	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.906	T	T	103025285	G	T	103025285	3	4	77	1	0	0	0	0	1	0	0	0	4860	1020	36	3	3498	3	DYNC2H1	11	103025285	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	8871952	103025285	31981231	183	20250											
SIK2	23235	genome.wustl.edu	37	chr11	111594680	111594680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccctgtcagtatcctgtgGatggagcccagcagagcgac	8	8	12	13	1	1	1	1	0	0	1	3	4	3	3	3	2	3	2	3	2	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:111594680G>T	ENST00000304987.3	+	15	2781	c.2608G>T	c.(2608-2610)Gat>Tat	p.D870Y		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	870					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATCCTGTGGATGGAGCCCA	0.617																																																	0													50	52	51					11																	111594680		2201	4297	6498	SO:0001583	missense	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2608G>T	11.37:g.111594680G>T	ENSP00000305976:p.Asp870Tyr		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D870Y	ENST00000304987.3	37	c.2608	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	7.727	0.698399	0.15106	.	.	ENSG00000170145	ENST00000304987	T	0.76578	-1.03	5.13	4.2	0.49525	.	0.104155	0.64402	D	0.000005	T	0.69744	0.3145	L	0.54323	1.7	0.51012	D	0.999902	B	0.09022	0.002	B	0.08055	0.003	T	0.67669	-0.5611	10	0.62326	D	0.03	.	6.362	0.21433	0.0905:0.0:0.7258:0.1837	.	870	Q9H0K1	SIK2_HUMAN	Y	870	ENSP00000305976:D870Y	ENSP00000305976:D870Y	D	+	1	0	SIK2	111099890	1.000000	0.71417	0.630000	0.29268	0.015000	0.08874	2.329000	0.43876	1.361000	0.45981	0.655000	0.94253	GAT	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000170145		0.617	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3		0	64	0	G	NM_015191		111594680	1			no_errors	ENST00000304987	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	111594680	G	T	111594680	3	4	77	1	0	0	0	0	1	0	0	0	14363	1174	41	3	2666	3	SIK2	11	111594680	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	8569395	111594680	23411836	184	20251											
ALG9	79796	genome.wustl.edu	37	chr11	111711514	111711514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccaaggtaagccaatacGggtggcctaaattctgaact	13	8	11	9	1	1	1	0	1	1	0	1	2	1	1	3	3	4	1	3	3	7	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:111711514G>T	ENST00000531154.1	-	10	996	c.524C>A	c.(523-525)cCg>cAg	p.P175Q	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.P175Q	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	346					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AAGCCAATACGGGTGGCCTAA	0.343																																																	0													115	113	114					11																	111711514		1836	4090	5926	SO:0001583	missense	0				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	15672	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase", "dol-P-Man dependent alpha-1,2-mannosyltransferase"	606941	"disrupted in bipolar affective disorder 1", "asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)", "asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)", "asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.524C>A	11.37:g.111711514G>T	ENSP00000435517:p.Pro175Gln		Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.P175Q	ENST00000531154.1	37	c.524	CCDS41714.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.128628	0.94473	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.64085	-0.08;-0.08	5.52	5.52	0.82312	.	0.045449	0.85682	D	0.000000	T	0.78110	0.4232	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.97110	1.0;0.985;0.99;0.989	T	0.71530	-0.4565	10	0.11794	T	0.64	-10.9587	19.8024	0.96513	0.0:0.0:1.0:0.0	.	175;346;579;346	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	Q	175;175;579	ENSP00000435517:P175Q;ENSP00000381090:P175Q	ENSP00000381090:P175Q	P	-	2	0	ALG9	111216724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	CCG	ALG9	-	pfam_GPI_mannosylTrfase	ENSG00000086848		0.343	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	HGNC	protein_coding	OTTHUMT00000391485.1		0	86	0	G	NM_024740		111711514	-1			no_errors	ENST00000531154	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	111711514	G	T	111711514	3	4	77	1	0	0	0	0	1	0	0	0	524	1116	39	2	843	2	ALG9	11	111711514	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	116834	111711514	23295002	185	20252											
NLRX1	79671	genome.wustl.edu	37	chr11	119044614	119044614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccaacttgtggcccagcGctacacgcccctgaaggagg	8	6	13	14	2	0	1	0	1	0	0	0	2	0	2	4	3	4	1	4	3	3	2	rs146004436	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:119044614G>T	ENST00000409109.1	+	5	1243	c.656G>T	c.(655-657)cGc>cTc	p.R219L	NLRX1_ENST00000409265.4_Missense_Mutation_p.R219L|NLRX1_ENST00000409991.1_Missense_Mutation_p.R219L|NLRX1_ENST00000292199.2_Missense_Mutation_p.R219L|NLRX1_ENST00000525863.1_Missense_Mutation_p.R219L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	219	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTGGCCCAGCGCTACACGCCC	0.647																																																	0													65	56	59					11																	119044614		2200	4295	6495	SO:0001583	missense	0			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"Nucleotide-binding domain and leucine rich repeat containing"	29890	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat containing X1", "NOD-like receptor X1", "NLR family, X1"	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.656G>T	11.37:g.119044614G>T	ENSP00000387334:p.Arg219Leu		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.R219L	ENST00000409109.1	37	c.656	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448142	0.43429	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.93	3.08	0.35506	NACHT nucleoside triphosphatase (1);	0.537282	0.19401	N	0.115168	T	0.64951	0.2645	N	0.11927	0.2	0.40655	D	0.982071	D;D	0.61697	0.99;0.974	P;P	0.53861	0.736;0.734	T	0.59177	-0.7503	10	0.11485	T	0.65	.	6.5667	0.22515	0.3626:0.0:0.6374:0.0	.	219;219	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	219	ENSP00000386851:R219L;ENSP00000292199:R219L;ENSP00000386858:R219L;ENSP00000387334:R219L;ENSP00000433442:R219L	ENSP00000292199:R219L	R	+	2	0	NLRX1	118549824	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	4.498000	0.60373	0.856000	0.35383	-0.224000	0.12420	CGC	NLRX1	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000160703		0.647	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	-	0	38	0	G	NM_170722		119044614	1	tier1	-	no_errors	ENST00000292199	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	T	T	119044614	G	T	119044614	3	4	77	1	0	0	0	0	1	0	0	0	10524	1087	38	2	670	2	NLRX1	11	119044614	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	7333100	119044614	15961902	186	20253											
CBL	867	genome.wustl.edu	37	chr11	119169165	119169165	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagccacctgtgccggcCgtgctggcccgccgaactct	6	6	11	18	4	1	0	0	0	1	0	1	1	1	0	7	2	4	1	7	2	2	0	rs552509693		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:119169165C>G	ENST00000264033.4	+	15	2725	c.2349C>G	c.(2347-2349)gcC>gcG	p.A783A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	783	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTGTGCCGGCCGTGCTGGCCC	0.552			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													80	76	77					11																	119169165		2199	4295	6494	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2349C>G	11.37:g.119169165C>G			A3KMP8	Silent	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.A783	ENST00000264033.4	37	c.2349	CCDS8418.1	11																																																																																			CBL	-	NULL	ENSG00000110395		0.552	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0	96	0	C	NM_005188		119169165	1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	silent	54.72	24	29	SNP	0.011	G	G	119169165	C	G	119169165	2	3	77	1	0	0	0	0	0	0	0	1	2707	639	23	5		5	CBL	11	119169165	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	124551	119169165	15837351	187	20254											
GLB1L3	112937	genome.wustl.edu	37	chr11	134183296	134183296	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcccagcaggactgcCgatacctgaggatcctggtg	7	8	13	13	1	0	1	0	1	0	0	2	4	2	3	5	3	3	1	5	3	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr11:134183296C>T	ENST00000431683.2	+	16	1507	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	503					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCAGGACTGCCGATACCTGAG	0.547																																																	0													44	48	47					11																	134183296		1992	4174	6166	SO:0001587	stop_gained	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.1507C>T	11.37:g.134183296C>T	ENSP00000396615:p.Arg503*		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Nonsense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.R503*	ENST00000431683.2	37	c.1507	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185102	0.78677	.	.	ENSG00000166105	ENST00000431683	.	.	.	4.52	3.58	0.41010	.	0.320832	0.30752	N	0.008950	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	11.9247	0.52812	0.0:0.8235:0.1765:0.0	.	.	.	.	X	503	.	ENSP00000396615:R503X	R	+	1	2	GLB1L3	133688506	0.001000	0.12720	0.007000	0.13788	0.003000	0.03518	0.959000	0.29240	1.194000	0.43101	0.563000	0.77884	CGA	GLB1L3	-	NULL	ENSG00000166105		0.547	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0	37	0	C	NM_138416		134183296	1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	nonsense	9.38	27	3	SNP	0.008	T	T	134183296	C	T	134183296	4	4	77	1	0	0	0	0	0	1	0	0	6456	644	23	1	1569	1	GLB1L3	11	134183296	Nonsense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	15014131	134183296	823220	188	20255											
FOXM1	2305	genome.wustl.edu	37	chr12	2968143	2968143	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcagccccagggggtcAggcaaggggtcagaggcacc	9	4	15	13	0	3	1	3	0	0	1	4	1	4	1	4	6	1	2	4	6	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:2968143A>G	ENST00000359843.3	-	9	2021	c.1953T>C	c.(1951-1953)ccT>ccC	p.P651P	ITFG2_ENST00000545509.1_Intron|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000342628.2_Silent_p.P689P|FOXM1_ENST00000361953.3_Silent_p.P636P|Y_RNA_ENST00000410561.1_RNA	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	651					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCAGGGGGTCAGGCAAGGGGT	0.597																																																	0													47	57	53					12																	2968143		2203	4299	6502	SO:0001819	synonymous_variant	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"Forkhead boxes"	3818	protein-coding gene	gene with protein product	"M-phase phosphoprotein 2"	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1953T>C	12.37:g.2968143A>G			O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P689	ENST00000359843.3	37	c.2067	CCDS8515.1	12																																																																																			FOXM1	-	NULL	ENSG00000111206		0.597	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1		0	54	0	A	NM_021953		2968143	-1			no_errors	ENST00000342628	ensembl	human	known	74_37	silent	8.70	41	4	SNP	0.733	G	G	2968143	A	G	2968143	2	3	77	1	0	0	0	0	0	0	0	1	6042	175	7	4		4	FOXM1	12	2968143	Silent	SNP	A	TCGA-L5-A891-01A-11D-A36J-09		2968143	130883752	189	20256											
TEAD4	7004	genome.wustl.edu	37	chr12	3149639	3149639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctacaggctggtgaaaGaatgagagactcggggagca	14	6	14	7	1	1	4	0	2	1	2	2	6	1	5	0	4	2	2	0	4	3	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:3149639G>A	ENST00000397122.2	+	11	1198	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	TEAD4_ENST00000358409.2_Missense_Mutation_p.E391K|TEAD4_ENST00000359864.2_Missense_Mutation_p.E434K|RP11-253E3.3_ENST00000513358.3_RNA	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	434					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCTGGTGAAAGAATGAGAGAC	0.602																																																	0													45	41	43					12																	3149639		2203	4300	6503	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.913G>A	12.37:g.3149639G>A	ENSP00000380311:p.Glu305Lys		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.E434K	ENST00000397122.2	37	c.1300	CCDS41737.1	12	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250261	0.80024	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000397122	T;T;T	0.57907	0.37;0.38;0.38	4.69	4.69	0.59074	.	0.127755	0.52532	D	0.000063	T	0.43875	0.1267	L	0.40543	1.245	0.58432	D	0.999997	B	0.32573	0.376	B	0.22753	0.041	T	0.51434	-0.8706	10	0.87932	D	0	-10.8232	16.8124	0.85724	0.0:0.0:1.0:0.0	.	434	Q15561	TEAD4_HUMAN	K	391;434;305	ENSP00000351184:E391K;ENSP00000352926:E434K;ENSP00000380311:E305K	ENSP00000351184:E391K	E	+	1	0	TEAD4	3019900	1.000000	0.71417	0.870000	0.34147	0.991000	0.79684	5.612000	0.67681	2.437000	0.82529	0.655000	0.94253	GAA	TEAD4	-	pirsf_TEF	ENSG00000197905		0.602	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398477.1	-	0	41	0	G	NM_003213		3149639	1	tier1	-	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	58.82	7	10	SNP	1.000	A	A	3149639	G	A	3149639	3	1	77	1	0	0	0	0	1	0	0	0	15788	943	33	3	1342	3	TEAD4	12	3149639	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	181496	3149639	130702256	190	20257											
PEX5	5830	genome.wustl.edu	37	chr12	7343151	7343151	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggtggaaagcccaggtGcagcctctgaggcagtgagt	9	8	16	8	0	1	3	0	3	1	0	1	4	1	4	2	4	3	2	2	4	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:7343151G>C	ENST00000455147.2	+	3	727				PEX5_ENST00000266563.5_Intron|PEX5_ENST00000434354.2_Missense_Mutation_p.A60P|PEX5_ENST00000545220.1_Intron|PEX5_ENST00000420616.2_Intron|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000412720.2_Intron|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000266564.3_Intron	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AAGCCCAGGTGCAGCCTCTGA	0.632																																																	0													10	12	12					12																	7343151		2163	4228	6391	SO:0001627	intron_variant	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.147+31G>C	12.37:g.7343151G>C			A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A60P	ENST00000455147.2	37	c.178	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	4.863	0.160424	0.09287	.	.	ENSG00000139197	ENST00000434354;ENST00000396637	D;D	0.87650	-2.28;-2.1	.	.	.	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.09310	N	0.999999	P	0.42993	0.797	B	0.31191	0.125	T	0.61525	-0.7045	5	.	.	.	.	.	.	.	.	60	B4DZ45	.	P	60	ENSP00000407401:A60P;ENSP00000379877:A60P	.	A	+	1	0	PEX5	7234418	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	0.032000	0.13732	0.502000	0.28037	0.000000	0.15137	GCA	PEX5	-	NULL	ENSG00000139197		0.632	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	-	0	47	0	G	NM_000319		7343151	1	tier1	-	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.005	C	C	7343151	G	C	7343151	1	2	77	0	1	0	0	0	0	0	0	0	11787	1319	46	5		5	PEX5	12	7343151	Intron	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	4193512	7343151	126508744	191	20258											
C3AR1	719	genome.wustl.edu	37	chr12	8212595	8212595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccgccaaggtgaggtGgaggaaccaaattgtgttca	11	8	15	7	1	1	1	1	1	0	0	2	4	2	3	3	5	1	1	3	5	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:8212595G>T	ENST00000307637.4	-	2	390	c.187C>A	c.(187-189)Cac>Aac	p.H63N		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	63					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AAGGTGAGGTGGAGGAACCAA	0.577																																																	0													107	88	94					12																	8212595		2203	4300	6503	SO:0001583	missense	0			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"Complement system", "GPCR / Class A : Complement component receptors"	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.187C>A	12.37:g.8212595G>T	ENSP00000302079:p.His63Asn		O43771|Q92868	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2	p.H63N	ENST00000307637.4	37	c.187	CCDS8588.1	12	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696422	0.30142	.	.	ENSG00000171860	ENST00000307637;ENST00000546241	T;T	0.28069	1.63;1.63	5.8	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.075475	0.48286	D	0.000192	T	0.10981	0.0268	N	0.02192	-0.645	0.29448	N	0.858706	B	0.25272	0.122	B	0.25884	0.064	T	0.30504	-0.9976	10	0.02654	T	1	.	11.8218	0.52242	0.0:0.0:0.5369:0.4631	.	63	Q16581	C3AR_HUMAN	N	63	ENSP00000302079:H63N;ENSP00000444500:H63N	ENSP00000302079:H63N	H	-	1	0	C3AR1	8103862	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.924000	0.48876	0.721000	0.32231	0.585000	0.79938	CAC	C3AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171860		0.577	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3AR1	HGNC	protein_coding	OTTHUMT00000400254.1	-	0	77	0	G			8212595	-1	tier1	-	no_errors	ENST00000307637	ensembl	human	known	74_37	missense	40.48	25	17	SNP	0.993	T	T	8212595	G	T	8212595	3	4	77	1	0	0	0	0	1	0	0	0	2212	1348	47	3	1265	3	C3AR1	12	8212595	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	869444	8212595	125639300	192	20259											
OR10P1	121130	genome.wustl.edu	37	chr12	56030744	56030744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgacctcaaggccctGcagggccccctgttctgggt	4	11	11	15	0	3	1	1	1	2	0	4	1	3	1	4	3	1	2	4	3	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:56030744G>A	ENST00000309675.2	+	1	101	c.69G>A	c.(67-69)ctG>ctA	p.L23L	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TCAAGGCCCTGCAGGGCCCCC	0.582																																																	0													105	99	101					12																	56030744		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"GPCR / Class A : Olfactory receptors"	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.69G>A	12.37:g.56030744G>A			B9EGY4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L23	ENST00000309675.2	37	c.69	CCDS31828.1	12																																																																																			OR10P1	-	NULL	ENSG00000175398		0.582	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10P1	HGNC	protein_coding	OTTHUMT00000406680.1	-	0	63	0	G			56030744	1	tier1	-	no_errors	ENST00000309675	ensembl	human	known	74_37	silent	5.19	72	4	SNP	0.000	A	A	56030744	G	A	56030744	2	1	77	1	0	0	0	0	0	0	0	1	10954	1306	46	3		3	OR10P1	12	56030744	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	47818149	56030744	77821151	193	20260											
LRIG3	121227	genome.wustl.edu	37	chr12	59270234	59270234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaacacttaccactactGtcatgttgtggtaagaaaaa	15	13	6	7	0	1	1	1	0	0	1	1	1	1	1	1	1	3	2	1	1	7	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:59270234G>A	ENST00000320743.3	-	16	2974	c.2688C>T	c.(2686-2688)gaC>gaT	p.D896D	LRIG3_ENST00000379141.4_Silent_p.D836D	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	896					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TACCACTACTGTCATGTTGTG	0.408			T	ROS1	NSCLC																																			Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	0													93	82	86					12																	59270234		2203	4300	6503	SO:0001819	synonymous_variant	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2688C>T	12.37:g.59270234G>A			Q6UXL7|Q8NC72	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D896	ENST00000320743.3	37	c.2688	CCDS8960.1	12																																																																																			LRIG3	-	NULL	ENSG00000139263		0.408	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	HGNC	protein_coding	OTTHUMT00000406623.1	-	0	74	0	G	NM_153377		59270234	-1	tier1	-	no_errors	ENST00000320743	ensembl	human	known	74_37	silent	50.70	35	36	SNP	0.998	A	A	59270234	G	A	59270234	2	1	77	1	0	0	0	0	0	0	0	1	8981	1368	48	3		3	LRIG3	12	59270234	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	3239490	59270234	74581661	194	20261											
MYF6	4618	genome.wustl.edu	37	chr12	81101966	81101966	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggctggatcagcaggagaaGatgcaggagctgggggtgga	10	5	20	6	1	1	2	1	0	0	2	1	6	1	5	0	7	3	4	0	7	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:81101966G>A	ENST00000228641.3	+	1	690	c.468G>A	c.(466-468)aaG>aaA	p.K156K		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	156					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGCAGGAGAAGATGCAGGAGC	0.577																																																	0													35	40	38					12																	81101966		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.468G>A	12.37:g.81101966G>A			B2R898|Q53X80|Q6FHI9	Silent	SNP	pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.K156	ENST00000228641.3	37	c.468	CCDS9019.1	12																																																																																			MYF6	-	superfamily_bHLH_dom	ENSG00000111046		0.577	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	-	0	59	0	G	NM_002469		81101966	1	tier1	-	no_errors	ENST00000228641	ensembl	human	known	74_37	silent	42.19	37	27	SNP	0.990	A	A	81101966	G	A	81101966	2	1	77	1	0	0	0	0	0	0	0	1	10066	933	33	3		3	MYF6	12	81101966	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	21831732	81101966	52749929	195	20262											
ACTR6	64431	genome.wustl.edu	37	chr12	100617641	100617641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatggtggtaacaagagAagattacgaagaaaatggac	19	7	12	3	1	0	4	0	0	0	4	0	7	0	5	0	3	2	1	0	3	8	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:100617641A>G	ENST00000188312.2	+	11	1904	c.1139A>G	c.(1138-1140)gAa>gGa	p.E380G	ACTR6_ENST00000546902.1_Missense_Mutation_p.E298G|ACTR6_ENST00000551617.1_Missense_Mutation_p.E278G|ACTR6_ENST00000552376.1_Missense_Mutation_p.E360G	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						GTAACAAGAGAAGATTACGAA	0.318																																																	0													124	126	126					12																	100617641		2203	4300	6503	SO:0001583	missense	0			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1139A>G	12.37:g.100617641A>G	ENSP00000188312:p.Glu380Gly		B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.E380G	ENST00000188312.2	37	c.1139	CCDS9074.1	12	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826231	0.71143	.	.	ENSG00000075089	ENST00000188312;ENST00000546902;ENST00000552376;ENST00000551617	D;D;T;T	0.95035	-3.59;-3.59;2.96;2.96	5.95	5.95	0.96441	.	0.047910	0.85682	D	0.000000	D	0.92854	0.7727	M	0.64997	1.995	0.80722	D	1	P;B;B	0.35348	0.496;0.152;0.101	B;B;B	0.30401	0.115;0.058;0.096	D	0.92816	0.6268	10	0.87932	D	0	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	278;360;380	F8VSD1;F8W057;Q9GZN1	.;.;ARP6_HUMAN	G	380;298;360;278	ENSP00000188312:E380G;ENSP00000448669:E298G;ENSP00000447237:E360G;ENSP00000448356:E278G	ENSP00000188312:E380G	E	+	2	0	ACTR6	99141772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.759000	0.91667	2.279000	0.76181	0.533000	0.62120	GAA	ACTR6	-	pfam_Actin-related,smart_Actin-related	ENSG00000075089		0.318	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1		0	86	0	A	NM_022496		100617641	1			no_errors	ENST00000188312	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	G	G	100617641	A	G	100617641	3	3	77	1	0	0	0	0	1	0	0	0	216	246	9	4	1181	4	ACTR6	12	100617641	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	19515675	100617641	33234254	196	20263											
TRPV4	59341	genome.wustl.edu	37	chr12	110252435	110252435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcctgggccagcagggCgactggcatcagccggtgag	7	5	16	13	3	1	1	1	1	0	0	2	2	1	1	3	4	2	2	3	4	0	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:110252435C>T	ENST00000418703.2	-	1	261	c.167G>A	c.(166-168)cGc>cAc	p.R56H	TRPV4_ENST00000537083.1_Missense_Mutation_p.R56H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R56H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R56H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R56H|TRPV4_ENST00000536838.1_Intron|TRPV4_ENST00000536570.1_5'Flank|TRPV4_ENST00000346520.2_Missense_Mutation_p.R56H|TRPV4_ENST00000544971.1_Missense_Mutation_p.R56H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	56					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCAGCAGGGCGACTGGCATC	0.647																																																	0													32	32	32					12																	110252435		2203	4300	6503	SO:0001583	missense	0			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	18083	protein-coding gene	gene with protein product	"osmosensitive transient receptor potential channel 4"	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.167G>A	12.37:g.110252435C>T	ENSP00000406191:p.Arg56His		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel	p.R56H	ENST00000418703.2	37	c.167	CCDS9134.1	12	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132979	0.56828	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794	D;D;D;D;D;D;D	0.89810	-2.55;-2.55;-2.39;-2.57;-2.4;-2.57;-2.39	3.52	3.52	0.40303	.	0.611855	0.16346	U	0.218424	D	0.86134	0.5860	N	0.24115	0.695	0.30186	N	0.799929	D;P;D;P	0.64830	0.994;0.855;0.986;0.91	P;B;P;B	0.51415	0.669;0.2;0.541;0.365	D	0.83604	0.0130	10	0.52906	T	0.07	.	13.6467	0.62286	0.0:1.0:0.0:0.0	.	56;56;56;56	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4	.;TRPV4_HUMAN;.;.	H	56	ENSP00000406191:R56H;ENSP00000261740:R56H;ENSP00000376480:R56H;ENSP00000319003:R56H;ENSP00000443611:R56H;ENSP00000442738:R56H;ENSP00000442167:R56H	ENSP00000261740:R56H	R	-	2	0	TRPV4	108736818	0.998000	0.40836	0.736000	0.30914	0.673000	0.39480	1.804000	0.38873	1.524000	0.49035	0.281000	0.19383	CGC	TRPV4	-	NULL	ENSG00000111199		0.647	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRPV4	HGNC	protein_coding	OTTHUMT00000403270.1	-	0	83	0	C	NM_021625		110252435	-1	tier1	-	no_errors	ENST00000261740	ensembl	human	known	74_37	missense	54.84	28	34	SNP	0.998	T	T	110252435	C	T	110252435	3	4	77	1	0	0	0	0	1	0	0	0	16646	768	27	1	2508	1	TRPV4	12	110252435	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	9634794	110252435	23599460	197	20264											
MED13L	23389	genome.wustl.edu	37	chr12	116444176	116444176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcaccggcgtggaatgaCctggtgtagtgacatccttg	8	9	14	10	2	0	2	0	2	0	0	1	3	1	3	3	4	0	2	3	4	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:116444176C>T	ENST00000281928.3	-	12	2485	c.2279G>A	c.(2278-2280)gGt>gAt	p.G760D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	760						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTGGAATGACCTGGTGTAGT	0.408																																																	0													107	103	105					12																	116444176		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2279G>A	12.37:g.116444176C>T	ENSP00000281928:p.Gly760Asp		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.G760D	ENST00000281928.3	37	c.2279	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821766	0.50633	.	.	ENSG00000123066	ENST00000281928	T	0.74209	-0.82	5.83	5.83	0.93111	.	0.288817	0.41396	D	0.000899	T	0.59715	0.2214	N	0.24115	0.695	0.53005	D	0.999967	P	0.48834	0.916	B	0.38842	0.283	T	0.62840	-0.6769	10	0.39692	T	0.17	-16.7322	13.3368	0.60522	0.0:0.928:0.0:0.072	.	760	Q71F56	MD13L_HUMAN	D	760	ENSP00000281928:G760D	ENSP00000281928:G760D	G	-	2	0	MED13L	114928559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.086000	0.57664	2.771000	0.95319	0.591000	0.81541	GGT	MED13L	-	NULL	ENSG00000123066		0.408	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	73	0	C			116444176	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	116444176	C	T	116444176	3	4	77	1	0	0	0	0	1	0	0	0	9469	507	18	3	4433	3	MED13L	12	116444176	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	6191741	116444176	17407719	198	20265											
VSIG10	54621	genome.wustl.edu	37	chr12	118533405	118533405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcaggtgtagattccCtcatctcccaggctcagcga	7	10	10	14	1	3	1	2	0	1	1	6	2	5	1	3	3	1	3	3	3	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:118533405C>A	ENST00000359236.5	-	2	570	c.294G>T	c.(292-294)gaG>gaT	p.E98D	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	98	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGTAGATTCCCTCATCTCCCA	0.592																																																	0													88	97	94					12																	118533405		2116	4243	6359	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.294G>T	12.37:g.118533405C>A	ENSP00000352172:p.Glu98Asp		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E98D	ENST00000359236.5	37	c.294	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098443	0.20552	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.67345	-0.26;-0.26	4.99	1.02	0.19986	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.155706	0.30210	N	0.010146	T	0.56140	0.1965	L	0.49126	1.545	0.30268	N	0.792488	B	0.30482	0.281	B	0.38020	0.263	T	0.49485	-0.8935	10	0.22706	T	0.39	-18.387	4.5981	0.12340	0.0:0.4868:0.1604:0.3528	.	98	Q8N0Z9	VSI10_HUMAN	D	98	ENSP00000352172:E98D;ENSP00000442861:E98D	ENSP00000352172:E98D	E	-	3	2	VSIG10	117017788	0.562000	0.26586	0.989000	0.46669	0.174000	0.22865	-0.526000	0.06207	0.019000	0.15079	0.655000	0.94253	GAG	VSIG10	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000176834		0.592	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	-	0	76	0	C	NM_019086		118533405	-1	tier1	-	no_errors	ENST00000359236	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.997	A	A	118533405	C	A	118533405	3	1	77	1	0	0	0	0	1	0	0	0	17272	680	24	3	1360	3	VSIG10	12	118533405	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2089229	118533405	15318490	199	20266											
CCDC60	160777	genome.wustl.edu	37	chr12	119909831	119909831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgtgaagataggccgtgGatattttgctattctgaggg	8	14	14	5	1	2	3	0	2	2	1	2	4	2	4	1	3	1	1	1	3	4	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:119909831G>T	ENST00000327554.2	+	3	668	c.203G>T	c.(202-204)gGa>gTa	p.G68V	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	68								p.G68E(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATAGGCCGTGGATATTTTGCT	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											100	97	98					12																	119909831		2203	4300	6503	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.203G>T	12.37:g.119909831G>T	ENSP00000333374:p.Gly68Val			Missense_Mutation	SNP	NULL	p.G68V	ENST00000327554.2	37	c.203	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178765	0.38511	.	.	ENSG00000183273	ENST00000327554	T	0.31247	1.5	5.22	5.22	0.72569	.	0.401293	0.21849	N	0.068205	T	0.50171	0.1600	M	0.70595	2.14	0.80722	D	1	D	0.59357	0.985	P	0.59546	0.859	T	0.47686	-0.9098	9	.	.	.	-12.5009	14.2748	0.66173	0.0:0.0:1.0:0.0	.	68	Q8IWA6	CCD60_HUMAN	V	68	ENSP00000333374:G68V	.	G	+	2	0	CCDC60	118394214	0.749000	0.28305	0.014000	0.15608	0.048000	0.14542	4.411000	0.59781	2.407000	0.81776	0.514000	0.50259	GGA	CCDC60	-	NULL	ENSG00000183273		0.468	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1		0	38	0	G	NM_178499		119909831	1			no_errors	ENST00000327554	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.306	T	T	119909831	G	T	119909831	3	4	77	1	0	0	0	0	1	0	0	0	2838	1174	41	3	213	3	CCDC60	12	119909831	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1376426	119909831	13942064	200	20267											
KDM2B	84678	genome.wustl.edu	37	chr12	121891050	121891050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcacttgcggcatcgcGtccggcgccgccgagctcct	3	7	12	19	8	0	0	0	0	0	0	4	1	2	0	5	2	2	3	5	2	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:121891050G>A	ENST00000377071.4	-	13	1904	c.1832C>T	c.(1831-1833)aCg>aTg	p.T611M	KDM2B_ENST00000536437.1_Missense_Mutation_p.T494M|KDM2B_ENST00000542973.1_De_novo_Start_InFrame|KDM2B_ENST00000377069.4_Missense_Mutation_p.T580M	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	611					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCGGCATCGCGTCCGGCGCCG	0.701																																																	0													13	17	16					12																	121891050		1965	4139	6104	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1832C>T	12.37:g.121891050G>A	ENSP00000366271:p.Thr611Met		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.T611M	ENST00000377071.4	37	c.1832	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927433	0.92389	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000540043;ENST00000261824	T;T;T	0.48836	2.23;1.64;0.8	5.18	5.18	0.71444	Zinc finger, CXXC-type (2);	0.000000	0.53938	D	0.000054	T	0.67069	0.2854	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.966;0.999;0.966;0.999	T	0.68743	-0.5328	10	0.72032	D	0.01	-16.9356	18.8727	0.92322	0.0:0.0:1.0:0.0	.	51;494;611;580;51	B7ZB05;Q1RLM7;Q8NHM5;A8MRS1;B4DSN4	.;.;KDM2B_HUMAN;.;.	M	611;580;611;494;611;51;611	ENSP00000366269:T580M;ENSP00000366271:T611M;ENSP00000445196:T494M	ENSP00000261824:T611M	T	-	2	0	KDM2B	120375433	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.521000	0.73778	2.694000	0.91930	0.555000	0.69702	ACG	KDM2B	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000089094		0.701	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	-	0	48	0	G	NM_032590		121891050	-1	tier1	-	no_errors	ENST00000377071	ensembl	human	known	74_37	missense	12.50	34	5	SNP	1.000	A	A	121891050	G	A	121891050	3	1	77	1	0	0	0	0	1	0	0	0	8152	1145	40	1	2274	1	KDM2B	12	121891050	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1981219	121891050	11960845	201	20268											
RSRC2	65117	genome.wustl.edu	37	chr12	122995710	122995710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catttccttttctcgctgttCttgtaatttctttgcccttt	3	23	4	11	1	3	0	0	0	3	0	5	0	4	0	2	0	1	3	2	0	1	9			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:122995710C>G	ENST00000331738.7	-	7	896	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q	RSRC2_ENST00000354654.2_Missense_Mutation_p.E203Q|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	251							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTCGCTGTTCTTGTAATTTC	0.289																																																	0													92	85	87					12																	122995710		2202	4299	6501	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.751G>C	12.37:g.122995710C>G	ENSP00000330188:p.Glu251Gln		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.E251Q	ENST00000331738.7	37	c.751	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209124	0.79240	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.17370	2.28;2.28;2.28	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.30665	0.0772	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D;D	0.61080	0.989;0.968;0.989;0.968;0.968	D;D;D;D;P	0.70487	0.969;0.969;0.969;0.969;0.859	T	0.01133	-1.1441	10	0.37606	T	0.19	.	17.9941	0.89177	0.0:1.0:0.0:0.0	.	251;203;251;192;19	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4;B3KMH4	.;.;RSRC2_HUMAN;.;.	Q	251;203;251;192	ENSP00000330188:E251Q;ENSP00000346678:E203Q;ENSP00000343315:E192Q	ENSP00000330188:E251Q	E	-	1	0	RSRC2	121561663	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.920000	0.70017	2.656000	0.90262	0.591000	0.81541	GAA	RSRC2	-	NULL	ENSG00000111011		0.289	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	-	0	56	0	C	NM_023012		122995710	-1	tier1	-	no_errors	ENST00000331738	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	G	G	122995710	C	G	122995710	3	3	77	1	0	0	0	0	1	0	0	0	13760	922	32	5	569	5	RSRC2	12	122995710	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1104660	122995710	10856185	202	20269											
PITPNM2	57605	genome.wustl.edu	37	chr12	123471955	123471955	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcacggtgatgtagcTgtcggcaaacgtgtggtctc	7	9	16	9	3	1	1	0	1	1	0	3	1	1	1	0	4	3	5	0	4	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:123471955T>A	ENST00000542749.1	-	21	3349	c.3286A>T	c.(3286-3288)Agc>Tgc	p.S1096C	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S817C|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S1096C|PITPNM2_ENST00000280562.5_Missense_Mutation_p.S1090C			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1096					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTGATGTAGCTGTCGGCAAAC	0.622																																																	0													94	85	88					12																	123471955		2203	4300	6503	SO:0001583	missense	0			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3286A>T	12.37:g.123471955T>A	ENSP00000437611:p.Ser1096Cys		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.S1096C	ENST00000542749.1	37	c.3286	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207811	0.58343	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.46451	1.2;1.2;0.87;1.2	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.49126	1.545	0.58432	D	0.999999	P;D	0.89917	0.48;1.0	B;D	0.76575	0.204;0.988	T	0.54622	-0.8266	10	0.35671	T	0.21	-42.5235	14.9483	0.71050	0.0:0.0:0.0:1.0	.	1090;1096	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	C	1090;1096;817;1096	ENSP00000280562:S1090C;ENSP00000322218:S1096C;ENSP00000376223:S817C;ENSP00000437611:S1096C	ENSP00000280562:S1090C	S	-	1	0	PITPNM2	122037908	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	4.646000	0.61411	2.117000	0.64856	0.459000	0.35465	AGC	PITPNM2	-	NULL	ENSG00000090975		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0	44	0	T	NM_020845		123471955	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	123471955	T	A	123471955	3	1	77	1	0	0	0	0	1	0	0	0	11990	1580	55	5	779	5	PITPNM2	12	123471955	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	476245	123471955	10379940	203	20270											
GLT1D1	144423	genome.wustl.edu	37	chr12	129442176	129442176	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagtcacagggctactgttTtccaatcctcaggtaaagaa	13	10	9	9	0	2	1	2	0	0	1	4	2	4	1	2	2	1	3	2	2	6	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr12:129442176T>G	ENST00000442111.2	+	11	955	c.867T>G	c.(865-867)ttT>ttG	p.F289L	GLT1D1_ENST00000542193.1_Missense_Mutation_p.F206L|GLT1D1_ENST00000281703.6_Missense_Mutation_p.F209L|GLT1D1_ENST00000537468.1_Missense_Mutation_p.F294L			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	289					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTACTGTTTTCCAATCCTC	0.458																																																	0													131	122	125					12																	129442176		2203	4300	6503	SO:0001583	missense	0				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"Glycosyltransferase group 1 domain containing"	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.867T>G	12.37:g.129442176T>G	ENSP00000394692:p.Phe289Leu		Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.F289L	ENST00000442111.2	37	c.867		12	.	.	.	.	.	.	.	.	.	.	T	12.68	2.009298	0.35415	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.6	-5.12	0.02893	.	0.057431	0.64402	D	0.000001	D	0.82806	0.5117	M	0.67569	2.06	0.40232	D	0.977852	D;D	0.63880	0.982;0.993	P;P	0.55391	0.758;0.775	D	0.83591	0.0123	10	0.59425	D	0.04	-27.8995	16.2541	0.82503	0.0:0.1509:0.0:0.8491	.	294;209	F5H088;Q96MS3-2	.;.	L	289;209;294;206	ENSP00000394692:F289L;ENSP00000281703:F209L;ENSP00000438158:F294L;ENSP00000437500:F206L	ENSP00000281703:F209L	F	+	3	2	GLT1D1	128008129	0.699000	0.27786	0.037000	0.18230	0.061000	0.15899	-0.327000	0.07955	-1.225000	0.02578	0.533000	0.62120	TTT	GLT1D1	-	pfam_Glyco_trans_1	ENSG00000151948		0.458	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	-	0	80	0	T	NM_144669		129442176	1	tier1	-	no_errors	ENST00000442111	ensembl	human	known	74_37	missense	20.43	74	19	SNP	0.890	G	G	129442176	T	G	129442176	3	3	77	1	0	0	0	0	1	0	0	0	6491	1838	64	4	653	4	GLT1D1	12	129442176	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	5970221	129442176	4409719	204	20271											
FLT3	2322	genome.wustl.edu	37	chr13	28623578	28623578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagaggaacaagtgtagtAtccggtgtcgtttcttgcca	10	12	12	7	2	1	2	0	1	1	1	3	3	2	3	2	2	2	3	2	2	5	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:28623578A>G	ENST00000241453.7	-	8	1060	c.979T>C	c.(979-981)Tac>Cac	p.Y327H	FLT3_ENST00000380982.4_Missense_Mutation_p.Y327H|FLT3_ENST00000537084.1_Missense_Mutation_p.Y327H	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	327	Ig-like C2-type.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y327H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAGTGTAGTATCCGGTGTCG	0.408			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Substitution - Missense(1)	lung(1)											236	209	218					13																	28623578		2203	4300	6503	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.979T>C	13.37:g.28623578A>G	ENSP00000241453:p.Tyr327His		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y327H	ENST00000241453.7	37	c.979	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	A	5.764	0.325325	0.10900	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.22743	1.94;1.94;1.94	5.62	3.17	0.36434	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.521080	0.19732	N	0.107331	T	0.07773	0.0195	N	0.03608	-0.345	0.25638	N	0.986239	B;B	0.11235	0.003;0.004	B;B	0.14023	0.004;0.01	T	0.33189	-0.9878	10	0.19147	T	0.46	.	6.113	0.20112	0.7451:0.0:0.2549:0.0	.	327;327	P36888-2;P36888	.;FLT3_HUMAN	H	327	ENSP00000241453:Y327H;ENSP00000370369:Y327H;ENSP00000438139:Y327H	ENSP00000241453:Y327H	Y	-	1	0	FLT3	27521578	0.994000	0.37717	0.931000	0.37212	0.466000	0.32739	2.004000	0.40854	1.049000	0.40321	0.533000	0.62120	TAC	FLT3	-	pfam_Immunoglobulin,pfscan_Ig-like_dom	ENSG00000122025		0.408	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0	72	0	A			28623578	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	86.57	9	58	SNP	0.933	G	G	28623578	A	G	28623578	3	3	77	1	0	0	0	0	1	0	0	0	5964	449	16	4	2070	4	FLT3	13	28623578	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09		28623578	86546300	205	20272											
SLC7A1	6541	genome.wustl.edu	37	chr13	30088667	30088667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccttgcttggtcggcatCcagggacgcctcctcgctgt	4	11	12	14	3	0	0	0	0	0	0	5	1	3	1	4	3	1	3	4	3	0	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:30088667C>A	ENST00000380752.5	-	13	2226	c.1840G>T	c.(1840-1842)Gat>Tat	p.D614Y	SLC7A1_ENST00000473577.1_5'Flank	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	614					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGGTCGGCATCCAGGGACGCC	0.667																																																	0													57	45	49					13																	30088667		2203	4300	6503	SO:0001583	missense	0			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1840G>T	13.37:g.30088667C>A	ENSP00000370128:p.Asp614Tyr		Q5JR50	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.D614Y	ENST00000380752.5	37	c.1840	CCDS9333.1	13	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231447	0.39399	.	.	ENSG00000139514	ENST00000380752	D	0.86366	-2.11	4.27	4.27	0.50696	.	0.816587	0.11212	N	0.587646	D	0.82986	0.5156	L	0.47716	1.5	0.25267	N	0.989546	B	0.11235	0.004	B	0.08055	0.003	T	0.74051	-0.3789	10	0.66056	D	0.02	.	9.9362	0.41552	0.0:0.9063:0.0:0.0937	.	614	P30825	CTR1_HUMAN	Y	614	ENSP00000370128:D614Y	ENSP00000370128:D614Y	D	-	1	0	SLC7A1	28986667	.	.	0.958000	0.39756	0.768000	0.43524	.	.	2.387000	0.81309	0.561000	0.74099	GAT	SLC7A1	-	NULL	ENSG00000139514		0.667	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	-	0	65	0	C	NM_003045		30088667	-1	tier1	-	no_errors	ENST00000380752	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.899	A	A	30088667	C	A	30088667	3	1	77	1	0	0	0	0	1	0	0	0	14737	855	30	3	53	3	SLC7A1	13	30088667	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1465089	30088667	85081211	206	20273											
BRCA2	675	genome.wustl.edu	37	chr13	32912071	32912071	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattaaacggaagtttgcTggcctgttgaaaaatgactg	14	11	11	5	1	0	2	0	2	0	0	0	4	0	3	1	2	2	3	1	2	6	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:32912071T>A	ENST00000380152.3	+	11	3812	c.3579T>A	c.(3577-3579)gcT>gcA	p.A1193A	BRCA2_ENST00000544455.1_Silent_p.A1193A			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1193					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGAAGTTTGCTGGCCTGTTGA	0.403			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													85	88	87					13																	32912071		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3579T>A	13.37:g.32912071T>A			O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.A1193	ENST00000380152.3	37	c.3579	CCDS9344.1	13																																																																																			BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.403	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	62	0	T	NM_000059		32912071	1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	A	A	32912071	T	A	32912071	2	1	77	1	0	0	0	0	0	0	0	1	1503	1567	55	5		5	BRCA2	13	32912071	Silent	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	2823404	32912071	82257807	207	20274											
SLITRK1	114798	genome.wustl.edu	37	chr13	84455420	84455420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaagttagcgaactcattagGgaaaagtcgagtgagggaat	16	8	13	4	2	1	1	1	1	0	0	2	5	1	3	0	2	2	1	0	2	7	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:84455420G>A	ENST00000377084.2	-	1	1108	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	75					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AACTCATTAGGGAAAAGTCGA	0.463																																																	0													67	69	68					13																	84455420		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.223C>T	13.37:g.84455420G>A	ENSP00000366288:p.Pro75Ser		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P75S	ENST00000377084.2	37	c.223	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442766	0.43326	.	.	ENSG00000178235	ENST00000377084	T	0.59083	0.29	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	L	0.49350	1.555	0.58432	D	0.999999	B	0.28900	0.227	B	0.27715	0.082	T	0.54456	-0.8291	10	0.44086	T	0.13	-5.6919	16.5743	0.84633	0.0:0.0:1.0:0.0	.	75	Q96PX8	SLIK1_HUMAN	S	75	ENSP00000366288:P75S	ENSP00000366288:P75S	P	-	1	0	SLITRK1	83353421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.477000	0.83638	0.561000	0.74099	CCT	SLITRK1	-	NULL	ENSG00000178235		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0	49	0	G	NM_052910		84455420	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	A	A	84455420	G	A	84455420	3	1	77	1	0	0	0	0	1	0	0	0	14787	1232	43	3	1871	3	SLITRK1	13	84455420	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	51543349	84455420	30714458	208	20275											
IPO5	3843	genome.wustl.edu	37	chr13	98645242	98645242	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtatttgcgtcctcacttgGaagcaactctacagctaagt	11	12	8	10	1	2	0	1	0	1	0	3	1	3	1	1	1	5	3	1	1	5	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr13:98645242G>T	ENST00000490680.1	+	7	831	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	IPO5_ENST00000261574.5_Nonsense_Mutation_p.E274*|IPO5_ENST00000539640.1_Nonsense_Mutation_p.E131*			O00410	IPO5_HUMAN	importin 5	256					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TCCTCACTTGGAAGCAACTCT	0.363																																																	0													121	113	116					13																	98645242		2203	4300	6503	SO:0001587	stop_gained	0			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"Importins"	6402	protein-coding gene	gene with protein product		602008	"karyopherin (importin) beta 3", "RAN binding protein 5"	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.766G>T	13.37:g.98645242G>T	ENSP00000418393:p.Glu256*		B4DZA0|O15257|Q5T578|Q86XC7	Nonsense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.E274*	ENST00000490680.1	37	c.820		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.829562|8.829562	0.98970|0.98970	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.042540|.	0.85682|.	D|.	0.000000|.	.|T	.|0.81302	.|0.4794	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78306	.|-0.2255	.|3	0.19590|.	T|.	0.45|.	-7.6751|-7.6751	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	274;256;256;131|257	.|.	ENSP00000261574:E274X|.	E|W	+|+	1|3	0|0	IPO5|IPO5	97443243|97443243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.167000|9.167000	0.94773|0.94773	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|TGG	IPO5	-	superfamily_ARM-type_fold	ENSG00000065150		0.363	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	HGNC	protein_coding	OTTHUMT00000354655.1	-	0	129	0	G	NM_002271		98645242	1	tier1	-	no_errors	ENST00000261574	ensembl	human	known	74_37	nonsense	7.20	116	9	SNP	1.000	T	T	98645242	G	T	98645242	4	4	77	1	0	0	0	0	0	1	0	0	7823	1175	41	3	850	3	IPO5	13	98645242	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	14189822	98645242	16524636	209	20276											
OR4K1	79544	genome.wustl.edu	37	chr14	20404162	20404162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgttgggagtgagatgAtgttgcttgtagctatggca	7	16	15	3	0	0	2	0	2	0	1	0	4	0	3	0	2	2	7	0	2	2	7			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:20404162A>G	ENST00000285600.4	+	1	396	c.337A>G	c.(337-339)Atg>Gtg	p.M113V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GAGTGAGATGATGTTGCTTGT	0.413																																																	0													142	138	139					14																	20404162		2203	4300	6503	SO:0001583	missense	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.337A>G	14.37:g.20404162A>G	ENSP00000285600:p.Met113Val		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M113V	ENST00000285600.4	37	c.337	CCDS32025.1	14	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.563082	0.00903	.	.	ENSG00000155249	ENST00000285600	T	0.02863	4.13	4.94	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.168912	0.42294	D	0.000723	T	0.00496	0.0016	N	0.00071	-2.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	10	0.02654	T	1	.	1.8552	0.03177	0.5724:0.1719:0.0904:0.1653	.	113	Q8NGD4	OR4K1_HUMAN	V	113	ENSP00000285600:M113V	ENSP00000285600:M113V	M	+	1	0	OR4K1	19474002	0.000000	0.05858	0.997000	0.53966	0.995000	0.86356	-0.353000	0.07691	0.354000	0.24105	0.533000	0.62120	ATG	OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000155249		0.413	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0	42	0	A			20404162	1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	missense	70.83	7	17	SNP	0.061	G	G	20404162	A	G	20404162	3	3	77	1	0	0	0	0	1	0	0	0	11106	333	12	4	339	4	OR4K1	14	20404162	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09		20404162	86945378	210	20277											
CHD8	57680	genome.wustl.edu	37	chr14	21883794	21883794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgcatcttcttcactgGgattctcctgcagcaaaaga	9	12	9	11	0	4	1	1	0	3	1	5	2	4	2	1	2	3	4	1	2	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:21883794G>T	ENST00000557364.1	-	7	2170	c.1907C>A	c.(1906-1908)cCc>cAc	p.P636H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.P636H|CHD8_ENST00000430710.3_Missense_Mutation_p.P357H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	636					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTCTTCACTGGGATTCTCCTG	0.378																																																	0													80	77	78					14																	21883794		1882	4108	5990	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1907C>A	14.37:g.21883794G>T	ENSP00000451601:p.Pro636His		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P636H	ENST00000557364.1	37	c.1907	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540868	0.85917	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.71341	-0.56;-0.56;-0.56	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.82066	0.4956	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.83896	0.0287	10	0.87932	D	0	-10.0788	17.2366	0.87000	0.0:0.0:1.0:0.0	.	357	Q9HCK8-2	.	H	357;636;356;636	ENSP00000406288:P357H;ENSP00000382863:P636H;ENSP00000451601:P636H	ENSP00000262707:P356H	P	-	2	0	CHD8	20953634	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.612000	0.98347	2.597000	0.87782	0.655000	0.94253	CCC	CHD8	-	NULL	ENSG00000100888		0.378	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0	88	0	G	NM_020920		21883794	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	21883794	G	T	21883794	3	4	77	1	0	0	0	0	1	0	0	0	3338	1232	43	3	5966	3	CHD8	14	21883794	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1479632	21883794	85465746	211	20278											
ARHGAP5	394	genome.wustl.edu	37	chr14	32563069	32563069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaaaaacaattgaagctgGtattggtaaaaatccaagaa	19	11	7	4	0	0	2	0	1	0	1	1	2	1	2	1	2	2	3	1	2	11	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:32563069G>T	ENST00000345122.3	+	2	3509	c.3194G>T	c.(3193-3195)gGt>gTt	p.G1065V	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G1065V|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G1065V|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G1065V|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1065					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTGAAGCTGGTATTGGTAAA	0.398																																					NSCLC(9;77 350 3443 29227 41353)												0													53	55	54					14																	32563069		2202	4298	6500	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3194G>T	14.37:g.32563069G>T	ENSP00000371897:p.Gly1065Val		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.G1065V	ENST00000345122.3	37	c.3194	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527247	0.64860	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.47716	1.5	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.60609	0.877;0.757	T	0.00116	-1.2036	10	0.41790	T	0.15	.	19.9348	0.97133	0.0:0.0:1.0:0.0	.	1065;1065	Q13017-2;Q13017	.;RHG05_HUMAN	V	1065	ENSP00000452222:G1065V;ENSP00000441692:G1065V;ENSP00000371897:G1065V;ENSP00000393307:G1065V	ENSP00000371897:G1065V	G	+	2	0	ARHGAP5	31632820	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.789000	0.95967	0.591000	0.81541	GGT	ARHGAP5	-	NULL	ENSG00000100852		0.398	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	112	0	G	NM_001030055		32563069	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	32563069	G	T	32563069	3	4	77	1	0	0	0	0	1	0	0	0	886	1261	44	3	3196	3	ARHGAP5	14	32563069	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	10679275	32563069	74786471	212	20279											
C14orf105	55195	genome.wustl.edu	37	chr14	57960297	57960297	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcctgcagtcttgccagtGaatatgaagtcttttcttcc	7	15	9	10	0	3	2	0	2	3	0	5	2	5	2	3	1	2	1	3	1	3	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:57960297G>C	ENST00000216445.3	-	1	273	c.137C>G	c.(136-138)tCa>tGa	p.S46*	C14orf105_ENST00000534126.1_Nonsense_Mutation_p.S46*|C14orf105_ENST00000526336.1_Nonsense_Mutation_p.S46*|C14orf105_ENST00000422976.2_Nonsense_Mutation_p.S46*	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	46										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCTTGCCAGTGAATATGAAGT	0.433																																																	0													125	126	126					14																	57960297		2203	4300	6503	SO:0001587	stop_gained	0			AK001512	CCDS9730.1, CCDS61458.1, CCDS61459.1	14q22.2	2012-09-25			ENSG00000100557	ENSG00000100557			20189	protein-coding gene	gene with protein product							Standard	XM_005267806		Approved	FLJ10650	uc001xcy.2	Q9NVL8	OTTHUMG00000140317	ENST00000216445.3:c.137C>G	14.37:g.57960297G>C	ENSP00000216445:p.Ser46*		Q53G04	Nonsense_Mutation	SNP	NULL	p.S46*	ENST00000216445.3	37	c.137	CCDS9730.1	14	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234154	0.39498	.	.	ENSG00000100557	ENST00000216445;ENST00000422976;ENST00000534126;ENST00000526336	.	.	.	4.88	-0.161	0.13371	.	0.957558	0.08612	N	0.919779	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	0.1314	8.6927	0.34275	0.4162:0.0:0.5838:0.0	.	.	.	.	X	46	.	ENSP00000216445:S46X	S	-	2	0	C14orf105	57030050	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.065000	0.14466	-0.256000	0.09473	-0.252000	0.11476	TCA	C14orf105	-	NULL	ENSG00000100557		0.433	C14orf105-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C14orf105	HGNC	protein_coding	OTTHUMT00000276921.2	-	0	70	0	G	NM_018168		57960297	-1	tier1	-	no_errors	ENST00000216445	ensembl	human	known	74_37	nonsense	24.24	25	8	SNP	0.000	C	C	57960297	G	C	57960297	4	2	77	1	0	0	0	0	0	1	0	0	1742	1294	45	5	777	5	C14orf105	14	57960297	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	25397228	57960297	49389243	213	20280											
ACTN1	87	genome.wustl.edu	37	chr14	69376683	69376683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcactcaccttatgtggaaGttctggatgttgacattttt	9	16	9	7	0	2	1	1	1	1	0	2	3	2	3	1	2	1	3	1	2	2	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:69376683G>T	ENST00000193403.6	-	5	887	c.504C>A	c.(502-504)aaC>aaA	p.N168K	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.N168K|ACTN1_ENST00000438964.2_Missense_Mutation_p.N168K|ACTN1_ENST00000538545.2_Missense_Mutation_p.N168K|ACTN1_ENST00000376839.3_Missense_Mutation_p.N103K	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	168	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTATGTGGAAGTTCTGGATGT	0.582																																																	0													107	100	102					14																	69376683		2203	4300	6503	SO:0001583	missense	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"EF-hand domain containing"	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.504C>A	14.37:g.69376683G>T	ENSP00000193403:p.Asn168Lys		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.N168K	ENST00000193403.6	37	c.504	CCDS9792.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186709	0.78789	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433;ENST00000553370	T;T;T;T;T;T;T;D	0.96745	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-4.11	5.69	3.88	0.44766	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98868	0.9617	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.996;1.0	D;D;D;D	0.91635	0.981;0.998;0.972;0.999	D	0.98633	1.0672	10	0.87932	D	0	.	12.6602	0.56809	0.1339:0.0:0.8661:0.0	.	168;168;168;168	B7TY16;P12814-2;Q1HE25;P12814	.;.;.;ACTN1_HUMAN	K	168;168;168;103;168;103;147;103	ENSP00000193403:N168K;ENSP00000377941:N168K;ENSP00000414272:N168K;ENSP00000366035:N103K;ENSP00000439828:N168K;ENSP00000450903:N103K;ENSP00000450764:N147K;ENSP00000450925:N103K	ENSP00000193403:N168K	N	-	3	2	ACTN1	68446436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.861000	0.48380	0.878000	0.35920	0.655000	0.94253	AAC	ACTN1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000072110		0.582	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	-	0	91	0	G	NM_001102		69376683	-1	tier1	-	no_errors	ENST00000394419	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	69376683	G	T	69376683	3	4	77	1	0	0	0	0	1	0	0	0	204	1020	36	3	2312	3	ACTN1	14	69376683	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	11416386	69376683	37972857	214	20281											
DCAF5	8816	genome.wustl.edu	37	chr14	69522074	69522074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accccagcgtgcagttggagGatagtactctcactgaggtc	9	9	12	11	1	1	1	1	1	1	0	3	3	1	3	2	3	3	3	2	3	2	3	rs375050597		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr14:69522074G>A	ENST00000341516.5	-	9	1476	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	DCAF5_ENST00000556847.1_Silent_p.I361I|DCAF5_ENST00000557386.1_Silent_p.I442I|DCAF5_ENST00000554215.1_Silent_p.I361I|DCAF5_ENST00000553293.1_5'UTR	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	443					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCAGTTGGAGGATAGTACTCT	0.587																																																	0													63	55	58					14																	69522074		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"WD repeat domain containing", "DDB1 and CUL4 associated factors"	20224	protein-coding gene	gene with protein product		603812	"WD repeat domain 22"	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1329C>T	14.37:g.69522074G>A			B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I443	ENST00000341516.5	37	c.1329	CCDS32106.1	14																																																																																			DCAF5	-	NULL	ENSG00000139990		0.587	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	-	0	47	0	G	NM_003861		69522074	-1	tier1	-	no_errors	ENST00000341516	ensembl	human	known	74_37	silent	76.32	9	29	SNP	1.000	A	A	69522074	G	A	69522074	2	1	77	1	0	0	0	0	0	0	0	1	4282	1164	41	3		3	DCAF5	14	69522074	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	145391	69522074	37827466	215	20282											
TGM5	9333	genome.wustl.edu	37	chr15	43525456	43525456	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaacttgttgcttctcataTtagcttggatctgcctttgt	7	19	7	8	0	2	0	1	0	2	0	3	1	2	1	1	1	4	3	1	1	4	8			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:43525456T>A	ENST00000220420.5	-	13	2103	c.2096A>T	c.(2095-2097)aAt>aTt	p.N699I	TGM5_ENST00000349114.4_Missense_Mutation_p.N617I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	699					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCTTCTCATATTAGCTTGGAT	0.438																																																	0													210	176	187					15																	43525456		2203	4299	6502	SO:0001583	missense	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2096A>T	15.37:g.43525456T>A	ENSP00000220420:p.Asn699Ile		O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.N699I	ENST00000220420.5	37	c.2096	CCDS32212.1	15	.	.	.	.	.	.	.	.	.	.	T	23.8	4.455820	0.84209	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.69175	-0.38;-0.38	5.97	5.97	0.96955	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.149394	0.64402	D	0.000020	T	0.80513	0.4637	M	0.80422	2.495	0.40256	D	0.978128	P;D	0.63880	0.78;0.993	P;P	0.61003	0.731;0.882	D	0.83842	0.0258	10	0.72032	D	0.01	-12.4991	14.3975	0.67020	0.0:0.0:0.0:1.0	.	617;699	O43548-2;O43548	.;TGM5_HUMAN	I	699;617;698	ENSP00000220420:N699I;ENSP00000220419:N617I	ENSP00000220420:N699I	N	-	2	0	TGM5	41312748	1.000000	0.71417	0.985000	0.45067	0.887000	0.51463	3.677000	0.54619	2.275000	0.75901	0.533000	0.62120	AAT	TGM5	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000104055		0.438	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	-	0	62	0	T	NM_004245		43525456	-1	tier1	-	no_errors	ENST00000220420	ensembl	human	known	74_37	missense	20.45	35	9	SNP	0.897	A	A	43525456	T	A	43525456	3	1	77	1	0	0	0	0	1	0	0	0	15880	1493	52	5	70	5	TGM5	15	43525456	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09		43525456	59005936	216	20283											
SERINC4	619189	genome.wustl.edu	37	chr15	44087925	44087925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggcagcagaaacacaGtgagggcttctgcaaaacag	14	6	12	9	0	2	2	1	1	1	1	2	2	2	2	0	2	4	4	0	2	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:44087925G>A	ENST00000319327.6	-	10	1384	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Silent_p.L140L|SERF2_ENST00000409291.1_Intron|MIR1282_ENST00000408865.1_RNA|RP11-296A16.1_ENST00000417761.2_3'UTR|SERINC4_ENST00000299969.6_Silent_p.H309H|HYPK_ENST00000406925.1_5'Flank	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	384					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGAAACACAGTGAGGGCTTC	0.468																																																	0													106	102	103					15																	44087925		2198	4298	6496	SO:0001819	synonymous_variant	0			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1150C>T	15.37:g.44087925G>A			B2RN41|Q3YL75	Silent	SNP	pfam_TMS_TDE	p.L140	ENST00000319327.6	37	c.418	CCDS58360.1	15																																																																																			SERINC4	-	pfam_TMS_TDE	ENSG00000184716		0.468	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SERINC4	HGNC	protein_coding	OTTHUMT00000133485.2		0	17	0	G			44087925	-1			no_errors	ENST00000249714	ensembl	human	known	74_37	silent	43.75	9	7	SNP	0.875	A	A	44087925	G	A	44087925	2	1	77	1	0	0	0	0	0	0	0	1	14127	1020	36	3		3	SERINC4	15	44087925	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	562469	44087925	58443467	217	20284											
TLN2	83660	genome.wustl.edu	37	chr15	63111820	63111820	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcggcggaagccatgaaaGgtaggctggattctcacgtc	10	7	15	9	3	1	1	1	1	1	0	3	3	1	3	1	6	1	2	1	6	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:63111820G>T	ENST00000561311.1	+	52	7107	c.6877G>T	c.(6877-6879)Gga>Tga	p.G2293*	TLN2_ENST00000306829.6_Splice_Site_p.G2293*			Q9Y4G6	TLN2_HUMAN	talin 2	2293					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCCATGAAAGGTAGGCTGGA	0.572																																																	0													37	38	38					15																	63111820		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6877+1G>T	15.37:g.63111820G>T			A6NLB8	Nonsense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G2293*	ENST00000561311.1	37	c.6877	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.656022	0.98903	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-15.9312	19.1508	0.93487	0.0:0.0:1.0:0.0	.	.	.	.	X	2293	.	ENSP00000303476:G2293X	G	+	1	0	TLN2	60898873	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	9.741000	0.98843	2.524000	0.85096	0.561000	0.74099	GGA	TLN2	-	NULL	ENSG00000171914		0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	-	0	30	0	G		Nonsense_Mutation	63111820	1	tier1	-	no_errors	ENST00000306829	ensembl	human	known	74_37	nonsense	19.05	17	4	SNP	1.000	T	T	63111820	G	T	63111820	5	4	77	1	0	0	0	0	0	0	1	0	15995	1014	35	3	7075	3	TLN2	15	63111820	Splice_Site	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	19023895	63111820	39419572	218	20285											
GLCE	26035	genome.wustl.edu	37	chr15	69548309	69548309	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggatgggtttgaaaaaaGagcagcagcatctgagagta	15	8	14	4	0	1	3	0	2	1	2	1	5	1	4	0	2	3	5	0	2	4	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:69548309G>C	ENST00000261858.2	+	3	392	c.164G>C	c.(163-165)aGa>aCa	p.R55T	GLCE_ENST00000559420.2_5'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	55					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTGAAAAAAGAGCAGCAGCA	0.468																																																	0													90	88	89					15																	69548309		2200	4298	6498	SO:0001583	missense	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.164G>C	15.37:g.69548309G>C	ENSP00000261858:p.Arg55Thr		Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.R55T	ENST00000261858.2	37	c.164	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959786	0.34565	.	.	ENSG00000138604	ENST00000261858	T	0.32988	1.43	5.3	3.43	0.39272	.	0.205916	0.48286	D	0.000187	T	0.28134	0.0694	L	0.54323	1.7	0.31895	N	0.616684	B	0.19817	0.039	B	0.17098	0.017	T	0.24728	-1.0152	10	0.44086	T	0.13	-26.3448	10.2353	0.43280	0.1637:0.0:0.8363:0.0	.	55	O94923	GLCE_HUMAN	T	55	ENSP00000261858:R55T	ENSP00000261858:R55T	R	+	2	0	GLCE	67335363	0.995000	0.38212	0.978000	0.43139	0.332000	0.28634	2.410000	0.44592	0.730000	0.32425	-0.150000	0.13652	AGA	GLCE	-	NULL	ENSG00000138604		0.468	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		-	0	117	0	G	NM_015554		69548309	1	tier1	-	no_errors	ENST00000261858	ensembl	human	known	74_37	missense	12.09	78	11	SNP	0.944	C	C	69548309	G	C	69548309	3	2	77	1	0	0	0	0	1	0	0	0	6458	942	33	5	166	5	GLCE	15	69548309	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	6436489	69548309	32983083	219	20286											
NEO1	4756	genome.wustl.edu	37	chr15	73590919	73590919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcccacctatgatcctGcattgccaagcacaccatta	11	9	5	16	0	0	1	0	1	0	0	2	2	2	1	6	0	3	2	6	0	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:73590919G>A	ENST00000339362.5	+	28	4579	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	NEO1_ENST00000261908.6_Missense_Mutation_p.A1378T|NEO1_ENST00000558964.1_Missense_Mutation_p.A1367T|NEO1_ENST00000560262.1_Missense_Mutation_p.A1325T			Q92859	NEO1_HUMAN	neogenin 1	1378					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTATGATCCTGCATTGCCAAG	0.592																																																	0													86	74	78					15																	73590919		2198	4297	6495	SO:0001583	missense	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7754	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 2"	601907	"neogenin (chicken) homolog 1"			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.4132G>A	15.37:g.73590919G>A	ENSP00000341198:p.Ala1378Thr		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1378T	ENST00000339362.5	37	c.4132	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107475	0.37145	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T	0.43294	0.95	5.22	4.31	0.51392	Neogenin, C-terminal (1);	0.156689	0.56097	N	0.000022	T	0.21267	0.0512	N	0.14661	0.345	0.49213	D	0.999768	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.14023	0.01;0.005;0.005;0.008	T	0.06716	-1.0811	10	0.13108	T	0.6	-7.7548	6.2228	0.20691	0.1576:0.0:0.6916:0.1508	.	1325;1367;1089;1378	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	T	1325;1089;1378	ENSP00000261908:A1378T	ENSP00000261908:A1378T	A	+	1	0	NEO1	71377972	1.000000	0.71417	0.970000	0.41538	0.985000	0.73830	3.584000	0.53936	1.215000	0.43411	0.655000	0.94253	GCA	NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.592	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2		0	66	0	G	NM_002499		73590919	1			no_errors	ENST00000261908	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.937	A	A	73590919	G	A	73590919	3	1	77	1	0	0	0	0	1	0	0	0	10375	1319	46	3	4238	3	NEO1	15	73590919	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	4042610	73590919	28940473	220	20287											
PTPN9	5780	genome.wustl.edu	37	chr15	75798224	75798224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggatctgggtggccgttcaCctggggtaggaactggaaat	8	9	17	7	1	2	0	1	0	1	0	2	3	2	3	2	7	1	2	2	7	3	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:75798224C>T	ENST00000306726.2	-	7	1272	c.760G>A	c.(760-762)Gtg>Atg	p.V254M	PTPN9_ENST00000564970.1_5'Flank	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	254					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGCCGTTCACCTGGGGTAGG	0.542																																																	0													98	93	95					15																	75798224		2197	4294	6491	SO:0001583	missense	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.760G>A	15.37:g.75798224C>T	ENSP00000303554:p.Val254Met		Q53XR9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.V254M	ENST00000306726.2	37	c.760	CCDS10280.1	15	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764359	0.31228	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	D	0.84370	-1.84	5.92	2.79	0.32731	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.359432	0.31847	N	0.006962	T	0.74703	0.3751	L	0.36672	1.1	0.24983	N	0.99159	B	0.13594	0.008	B	0.09377	0.004	T	0.56062	-0.8041	10	0.17369	T	0.5	.	9.0662	0.36465	0.0:0.6065:0.2949:0.0986	.	254	P43378	PTN9_HUMAN	M	254;244	ENSP00000303554:V254M	ENSP00000303554:V254M	V	-	1	0	PTPN9	73585279	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.380000	0.52448	0.280000	0.22209	0.650000	0.86243	GTG	PTPN9	-	superfamily_CRAL-TRIO_dom	ENSG00000169410		0.542	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1		0	125	0	C			75798224	-1			no_errors	ENST00000306726	ensembl	human	known	74_37	missense	8.54	75	7	SNP	1.000	T	T	75798224	C	T	75798224	3	4	77	1	0	0	0	0	1	0	0	0	12839	507	18	3	1049	3	PTPN9	15	75798224	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2207305	75798224	26733168	221	20288											
FSD2	123722	genome.wustl.edu	37	chr15	83437778	83437778	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttaataatggggggagaAggtgctaaatgtgggagaaa	14	10	16	1	0	0	2	0	0	0	2	0	4	0	2	0	5	1	2	0	5	6	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr15:83437778A>T	ENST00000334574.8	-	9	1588	c.1407T>A	c.(1405-1407)ccT>ccA	p.P469P	FSD2_ENST00000541889.1_Silent_p.P424P			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	469	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGGGGGGAGAAGGTGCTAAAT	0.473																																																	0													38	40	39					15																	83437778		1938	4134	6072	SO:0001819	synonymous_variant	0			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1407T>A	15.37:g.83437778A>T			B3KVG1|B7ZM02	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.P469	ENST00000334574.8	37	c.1407	CCDS45332.1	15																																																																																			FSD2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000186628		0.473	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	HGNC	protein_coding	OTTHUMT00000418385.1	-	0	120	0	A	NM_001007122		83437778	-1	tier1	-	no_errors	ENST00000334574	ensembl	human	known	74_37	silent	13.27	85	13	SNP	0.903	T	T	83437778	A	T	83437778	2	4	77	1	0	0	0	0	0	0	0	1	6095	59	3	5		5	FSD2	15	83437778	Silent	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	7639554	83437778	19093614	222	20289											
CHTF18	63922	genome.wustl.edu	37	chr16	839599	839599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcctcaccagctgccCgcaatcccgtcctgaggcgg	6	5	12	18	4	1	1	1	1	0	0	3	1	3	1	5	3	2	2	5	3	1	0	rs540916853	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:839599C>T	ENST00000262315.9	+	4	553	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	CHTF18_ENST00000455171.2_Missense_Mutation_p.R192C|RPUSD1_ENST00000567114.1_5'Flank|CHTF18_ENST00000317063.6_Missense_Mutation_p.R361C|RPUSD1_ENST00000007264.2_5'Flank|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000565809.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	164					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				ACCAGCTGCCCGCAATCCCGT	0.647													C|||	5	0.000998403	8e-04	0	5008	,	,		16858	0		0	False		,,,				2504	0.0041																0													43	50	47					16																	839599		2052	4177	6229	SO:0001583	missense	0			BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"ATPases / AAA-type"	18435	protein-coding gene	gene with protein product		613201	"chromosome 16 open reading frame 41"	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.490C>T	16.37:g.839599C>T	ENSP00000262315:p.Arg164Cys		B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R361C	ENST00000262315.9	37	c.1081	CCDS45371.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.861332|3.861332	0.71949|0.71949	.|.	.|.	ENSG00000127586|ENSG00000127586	ENST00000426047|ENST00000317063;ENST00000455171;ENST00000262315	.|T;T;T	.|0.11712	.|2.75;2.81;2.81	5.26|5.26	2.07|2.07	0.26955|0.26955	.|.	.|0.729028	.|0.13744	.|N	.|0.365777	T|T	0.12305|0.12305	0.0299|0.0299	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|P;D;D	.|0.76494	.|0.463;0.999;0.997	.|B;P;P	.|0.56088	.|0.045;0.791;0.543	T|T	0.12708|0.12708	-1.0537|-1.0537	5|10	.|0.72032	.|D	.|0.01	-10.9201|-10.9201	4.2521|4.2521	0.10700|0.10700	0.1296:0.5878:0.1265:0.1561|0.1296:0.5878:0.1265:0.1561	.|.	.|164;192;164	.|B4DEY3;Q8WVB6-2;Q8WVB6	.|.;.;CTF18_HUMAN	L|C	34|361;192;164	.|ENSP00000313029:R361C;ENSP00000406252:R192C;ENSP00000262315:R164C	.|ENSP00000262315:R164C	P|R	+|+	2|1	0|0	CHTF18|CHTF18	779600|779600	0.000000|0.000000	0.05858|0.05858	0.058000|0.058000	0.19502|0.19502	0.098000|0.098000	0.18820|0.18820	0.230000|0.230000	0.17852|0.17852	1.222000|1.222000	0.43521|0.43521	0.549000|0.549000	0.68633|0.68633	CCG|CGC	CHTF18	-	NULL	ENSG00000127586		0.647	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF18	HGNC	protein_coding	OTTHUMT00000109061.3	-	0	119	0	C	NM_022092		839599	1	tier1	-	no_errors	ENST00000317063	ensembl	human	known	74_37	missense	15.28	61	11	SNP	0.003	T	T	839599	C	T	839599	3	4	77	1	0	0	0	0	1	0	0	0	3421	652	23	1	504	1	CHTF18	16	839599	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09		839599	89515154	223	20290											
TSC2	7249	genome.wustl.edu	37	chr16	2110683	2110683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgttccaggccatggcatgtCcgaacgaggtggtgtcctat	7	11	13	10	2	0	0	0	0	0	0	3	2	3	0	4	4	1	2	4	4	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:2110683C>G	ENST00000219476.3	+	11	1618	c.988C>G	c.(988-990)Ccg>Gcg	p.P330A	TSC2_ENST00000401874.2_Missense_Mutation_p.P330A|TSC2_ENST00000350773.4_Missense_Mutation_p.P330A|TSC2_ENST00000439673.2_Missense_Mutation_p.P293A|TSC2_ENST00000382538.6_Missense_Mutation_p.P281A|TSC2_ENST00000568454.1_Missense_Mutation_p.P341A|TSC2_ENST00000353929.4_Missense_Mutation_p.P330A	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	330	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATGGCATGTCCGAACGAGGT	0.592			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													169	140	150					16																	2110683		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.988C>G	16.37:g.2110683C>G	ENSP00000219476:p.Pro330Ala		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.P330A	ENST00000219476.3	37	c.988	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	1.273	-0.612430	0.03690	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	4.6	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.171187	0.52532	D	0.000064	T	0.52500	0.1738	N	0.04043	-0.29	0.36410	D	0.863665	B;B;B;B;P;B	0.49961	0.016;0.013;0.0;0.029;0.93;0.004	B;B;B;B;P;B	0.53224	0.086;0.076;0.001;0.076;0.721;0.016	T	0.59867	-0.7373	10	0.33141	T	0.24	-37.6811	10.1744	0.42931	0.1541:0.6975:0.1484:0.0	.	281;293;330;330;330;330	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	A	330;330;330;293;281;330	ENSP00000219476:P330A;ENSP00000384468:P330A;ENSP00000248099:P330A;ENSP00000399232:P293A;ENSP00000371978:P281A;ENSP00000344383:P330A	ENSP00000219476:P330A	P	+	1	0	TSC2	2050684	1.000000	0.71417	0.812000	0.32479	0.062000	0.15995	2.632000	0.46511	1.046000	0.40249	-0.264000	0.10439	CCG	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold	ENSG00000103197		0.592	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	53	0	C	NM_000548		2110683	1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	G	G	2110683	C	G	2110683	3	3	77	1	0	0	0	0	1	0	0	0	16654	855	30	5	1026	5	TSC2	16	2110683	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1271084	2110683	88244070	224	20291											
CORO7	79585	genome.wustl.edu	37	chr16	4455542	4455542	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggctccagacggcgctctGcaccaggtccccatgggctg	5	7	13	16	3	1	1	0	0	1	1	4	1	3	1	4	4	1	4	4	4	0	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:4455542G>A	ENST00000251166.4	-	6	659	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	CORO7_ENST00000577144.1_5'Flank|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Nonsense_Mutation_p.Q154*|CORO7-PAM16_ENST00000572467.1_Nonsense_Mutation_p.Q172*|CORO7_ENST00000574025.1_Nonsense_Mutation_p.Q87*|CORO7_ENST00000539968.1_5'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	172					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						ACGGCGCTCTGCACCAGGTCC	0.692																																																	0													39	37	38					16																	4455542		2197	4300	6497	SO:0001587	stop_gained	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.514C>T	16.37:g.4455542G>A	ENSP00000251166:p.Gln172*		B4DFD6|B4DL18|I3L416|Q17RK4	Nonsense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q172*	ENST00000251166.4	37	c.514	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492681	0.84962	.	.	ENSG00000103426	ENST00000251166;ENST00000537233	.	.	.	4.4	4.4	0.53042	.	0.898620	0.09231	U	0.830618	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-17.2418	14.1838	0.65592	0.0:0.0:1.0:0.0	.	.	.	.	X	172;87	.	ENSP00000251166:Q172X	Q	-	1	0	CORO7	4395543	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.707000	0.61852	2.432000	0.82394	0.655000	0.94253	CAG	CORO7-PAM16	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103426		0.692	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0	113	0	G	NM_024535		4455542	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	A	A	4455542	G	A	4455542	4	1	77	1	0	0	0	0	0	1	0	0	3766	1328	46	3	2355	3	CORO7	16	4455542	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2344859	4455542	85899211	225	20292											
CP110	9738	genome.wustl.edu	37	chr16	19548389	19548389	+	Frame_Shift_Del	DEL	A	A	-																															caggtatgtcaatcttcaggAaatcatttagaaaataaagt																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:19548389delA	ENST00000381396.5	+	4	1645	c.1398delA	c.(1396-1398)ggafs	p.G466fs	CCP110_ENST00000396212.2_Frame_Shift_Del_p.G466fs|CCP110_ENST00000396208.2_Frame_Shift_Del_p.G466fs	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	466	Interaction with CEP76.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AATCTTCAGGAAATCATTTAG	0.388																																																	0													86	88	87					16																	19548389		2197	4300	6497	SO:0001589	frameshift_variant	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.1398delA	16.37:g.19548389delA	ENSP00000370803:p.Gly466fs		B7WP23|O43335|Q68DV9|Q8NE13	Frame_Shift_Del	DEL	NULL	p.N467fs	ENST00000381396.5	37	c.1398	CCDS55992.1	16																																																																																			CCP110	-	NULL	ENSG00000103540		0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2		0	53	0	A	NM_014711		19548389	1	tier1		no_errors	ENST00000381396	ensembl	human	known	74_37	frame_shift_del	8.70	21	2	DEL	0.055	-	-	19548389	A	-	19548389	7	5	77	1	0	1	0	1	0	0	0	0	3795	233	9	0	1408	0	CP110	16	19548389	Frame_Shift_Del	DEL	A	TCGA-L5-A891-01A-11D-A36J-09	15092847	19548389	70806364	226	20293											
IGSF6	10261	genome.wustl.edu	37	chr16	21655704	21655704	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctccgcagttccttgctGagcagcttaatttcttaatg	9	14	8	10	1	1	1	0	1	1	0	3	1	3	1	2	0	4	6	2	0	3	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:21655704G>A	ENST00000268389.4	-	3	502	c.441C>T	c.(439-441)ctC>ctT	p.L147L	RNU6-1005P_ENST00000384519.1_RNA|RNU6-196P_ENST00000384315.1_RNA|METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	147					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		GTTCCTTGCTGAGCAGCTTAA	0.423																																																	0													88	79	82					16																	21655704		2199	4300	6499	SO:0001819	synonymous_variant	0			AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"Immunoglobulin superfamily / V-set domain containing"	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.441C>T	16.37:g.21655704G>A			Q8WWD8	Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L147	ENST00000268389.4	37	c.441	CCDS10599.1	16																																																																																			IGSF6	-	NULL	ENSG00000140749		0.423	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF6	HGNC	protein_coding	OTTHUMT00000207400.1	-	0	27	0	G			21655704	-1	tier1	-	no_errors	ENST00000268389	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.737	A	A	21655704	G	A	21655704	2	1	77	1	0	0	0	0	0	0	0	1	7630	1277	45	3		3	IGSF6	16	21655704	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2107315	21655704	68699049	227	20294											
ZNF423	23090	genome.wustl.edu	37	chr16	49671717	49671717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttgtagagggtgggcatgGagtccaggcagatctgacat	9	9	17	6	0	1	3	0	1	1	2	2	4	2	4	1	5	0	4	1	5	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:49671717G>A	ENST00000561648.1	-	4	1399	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	ZNF423_ENST00000562871.1_Missense_Mutation_p.S389F|ZNF423_ENST00000563137.2_Missense_Mutation_p.S389F|ZNF423_ENST00000535559.1_Missense_Mutation_p.S332F|ZNF423_ENST00000567169.1_Missense_Mutation_p.S332F|ZNF423_ENST00000262383.2_Missense_Mutation_p.S449F|ZNF423_ENST00000562520.1_Missense_Mutation_p.S389F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	449					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGGGCATGGAGTCCAGGCA	0.572																																																	0													148	128	135					16																	49671717		2198	4300	6498	SO:0001583	missense	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1346C>T	16.37:g.49671717G>A	ENSP00000455426:p.Ser449Phe		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S449F	ENST00000561648.1	37	c.1346	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998943	0.35226	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.30448	1.53;1.53	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.165528	0.53938	D	0.000044	T	0.24314	0.0589	N	0.14661	0.345	0.38698	D	0.952924	P	0.41159	0.74	B	0.42771	0.397	T	0.07927	-1.0747	9	.	.	.	.	18.4335	0.90634	0.0:0.0:1.0:0.0	.	449	Q2M1K9	ZN423_HUMAN	F	449;332	ENSP00000262383:S449F;ENSP00000442321:S332F	.	S	-	2	0	ZNF423	48229218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.430000	0.73391	2.346000	0.79739	0.561000	0.74099	TCC	ZNF423	-	smart_Znf_C2H2-like	ENSG00000102935		0.572	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	75	0	G	NM_015069		49671717	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	missense	46.03	34	29	SNP	1.000	A	A	49671717	G	A	49671717	3	1	77	1	0	0	0	0	1	0	0	0	17946	1174	41	3	2528	3	ZNF423	16	49671717	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	28016013	49671717	40683036	228	20295											
EDC4	23644	genome.wustl.edu	37	chr16	67909914	67909914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatggacttctggtccCagacccgctctgctcaggtg	6	10	10	15	1	4	1	2	0	2	1	5	2	5	2	3	3	1	2	3	3	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:67909914C>T	ENST00000358933.5	+	2	388	c.149C>T	c.(148-150)cCa>cTa	p.P50L	AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	50					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTTCTGGTCCCAGACCCGCTC	0.552																																																	0													115	103	107					16																	67909914		2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.149C>T	16.37:g.67909914C>T	ENSP00000351811:p.Pro50Leu		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P50L	ENST00000358933.5	37	c.149	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839598	0.71488	.	.	ENSG00000038358	ENST00000358933	.	.	.	5.91	5.91	0.95273	.	0.234439	0.45361	D	0.000373	T	0.49712	0.1573	L	0.36672	1.1	0.51482	D	0.999921	B	0.30326	0.276	B	0.26094	0.066	T	0.42241	-0.9463	9	0.37606	T	0.19	-5.9195	18.0694	0.89400	0.0:1.0:0.0:0.0	.	50	Q6P2E9	EDC4_HUMAN	L	50	.	ENSP00000351811:P50L	P	+	2	0	EDC4	66467415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.358000	0.66064	2.813000	0.96785	0.655000	0.94253	CCA	EDC4	-	NULL	ENSG00000038358		0.552	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	-	0	96	0	C	NM_014329		67909914	1	tier1	-	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	67909914	C	T	67909914	3	4	77	1	0	0	0	0	1	0	0	0	4922	594	21	3	155	3	EDC4	16	67909914	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	18238197	67909914	22444839	229	20296											
GLG1	2734	genome.wustl.edu	37	chr16	74516995	74516995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaccatcttctctgtgtaTaaatgttccatcaggcacga	10	14	6	11	1	4	0	1	0	3	0	6	1	5	0	2	1	1	3	2	1	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:74516995T>C	ENST00000422840.2	-	10	1598	c.1599A>G	c.(1597-1599)ttA>ttG	p.L533L	GLG1_ENST00000447066.2_Silent_p.L522L|GLG1_ENST00000205061.5_Silent_p.L533L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	533					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTCTGTGTATAAATGTTCCA	0.388																																																	0													129	124	126					16																	74516995		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1599A>G	16.37:g.74516995T>C			B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Silent	SNP	pfam_Cys-rich_GLG1_repeat	p.L533	ENST00000422840.2	37	c.1599	CCDS45527.1	16																																																																																			GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.388	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0	58	0	T	NM_012201		74516995	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	silent	72.73	9	24	SNP	0.987	C	C	74516995	T	C	74516995	2	2	77	1	0	0	0	0	0	0	0	1	6462	1403	49	4		4	GLG1	16	74516995	Silent	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	6607081	74516995	15837758	230	20297											
LDHD	197257	genome.wustl.edu	37	chr16	75149180	75149180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgatagcacagggctgcCagccggctgacctgctccac	7	6	13	15	2	0	1	0	1	0	0	1	2	1	1	4	3	4	4	4	3	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr16:75149180C>T	ENST00000450168.2	-	3	293	c.243G>A	c.(241-243)ctG>ctA	p.L81L	LDHD_ENST00000300051.4_Silent_p.L81L	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						ACAGGGCTGCCAGCCGGCTGA	0.647																																																	0													98	99	98					16																	75149180		2198	4300	6498	SO:0001819	synonymous_variant	0			AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.243G>A	16.37:g.75149180C>T				Silent	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2	p.L81	ENST00000450168.2	37	c.243	CCDS45529.1	16																																																																																			LDHD	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	ENSG00000166816		0.647	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHD	HGNC	protein_coding	OTTHUMT00000434651.1	-	0	44	0	C	NM_153486		75149180	-1	tier1	-	no_errors	ENST00000300051	ensembl	human	known	74_37	silent	27.27	16	6	SNP	1.000	T	T	75149180	C	T	75149180	2	4	77	1	0	0	0	0	0	0	0	1	8731	581	21	3		3	LDHD	16	75149180	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	632185	75149180	15205573	231	20298											
TP53	7157	genome.wustl.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	36	0	G	NM_000546		7574003	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	86.67	2	13	SNP	0.307	A	A	7574003	G	A	7574003	4	1	77	1	0	0	0	0	0	1	0	0	16429	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		7574003	73621207	232	20299											
ALOX12B	242	genome.wustl.edu	37	chr17	7976505	7976505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtccagagcaccagCagcgtgatgcacgtggtctt	8	8	14	11	2	1	3	0	2	1	1	2	3	2	3	2	2	4	3	2	2	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:7976505C>T	ENST00000319144.4	-	14	2147	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	629	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGAGCACCAGCAGCGTGATGC	0.627										Multiple Myeloma(8;0.094)																																							0													160	148	152					17																	7976505		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1887G>A	17.37:g.7976505C>T				Silent	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.L629	ENST00000319144.4	37	c.1887	CCDS11129.1	17																																																																																			ALOX12B	-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml	ENSG00000179477		0.627	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	-	0	45	0	C			7976505	-1	tier1	-	no_errors	ENST00000319144	ensembl	human	known	74_37	silent	39.29	17	11	SNP	0.093	T	T	7976505	C	T	7976505	2	4	77	1	0	0	0	0	0	0	0	1	537	697	25	3		3	ALOX12B	17	7976505	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	402502	7976505	73218705	233	20300											
NEK8	284086	genome.wustl.edu	37	chr17	27065181	27065181	+	Silent	SNP	C	C	T																															gagcagccacagccccagttCatctcgcgtttcctggaggg																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065181C>T	ENST00000268766.6	+	8	1174	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	380					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGCCCCAGTTCATCTCGCGTT	0.662																																					NSCLC(6;19 293 14866 25253 49845)												0													87	70	75					17																	27065181		2203	4300	6503	SO:0001819	synonymous_variant	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1140C>T	17.37:g.27065181C>T			A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H434Y	ENST00000268766.6	37	c.1300	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133829	0.21123	.	.	ENSG00000160602	ENST00000543014	T	0.70164	-0.46	5.69	1.44	0.22558	.	.	.	.	.	T	0.71298	0.3323	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70389	-0.4885	6	0.62326	D	0.03	.	9.4494	0.38717	0.0:0.6088:0.0:0.3912	.	.	.	.	Y	434	ENSP00000465859:H434Y	ENSP00000446066:H434Y	H	+	1	0	NEK8	24089308	0.407000	0.25352	0.838000	0.33150	0.905000	0.53344	0.706000	0.25690	0.341000	0.23771	0.655000	0.94253	CAT	NEK8	-	NULL	ENSG00000160602		0.662	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0	27	0	C			27065181	1	tier1	-	no_errors	ENST00000543014	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.848	T	T	27065181	C	T	27065181	2	4	77	1	0	0	0	0	0	0	0	1	10369	825	29	3		3	NEK8	17	27065181	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	19088676	27065181	54130029	234	20301	81	2	1	17		4	3	579	N	C	1.539536e-05
NEK8	284086	genome.wustl.edu	37	chr17	27065186	27065186	+	Nonsense_Mutation	SNP	C	C	A																															gccacagccccagttcatctCgcgtttcctggagggccagt																								rs146989750	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065186C>A	ENST00000268766.6	+	8	1179	c.1145C>A	c.(1144-1146)tCg>tAg	p.S382*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	382					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGTTCATCTCGCGTTTCCTG	0.657																																					NSCLC(6;19 293 14866 25253 49845)												0													87	70	76					17																	27065186		2203	4300	6503	SO:0001587	stop_gained	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1145C>A	17.37:g.27065186C>A	ENSP00000268766:p.Ser382*		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S382*	ENST00000268766.6	37	c.1145	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.398870	0.97533	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	18.8036	0.92028	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000268766:S382X	S	+	2	0	NEK8	24089313	1.000000	0.71417	0.981000	0.43875	0.958000	0.62258	7.283000	0.78640	2.699000	0.92147	0.655000	0.94253	TCG	NEK8	-	superfamily_RCC1/BLIP-II	ENSG00000160602		0.657	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2		0	27	0	C			27065186	1			no_errors	ENST00000268766	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	1.000	A	A	27065186	C	A	27065186	4	1	77	1	0	0	0	0	0	1	0	0	10369	893	31	2	1175	2	NEK8	17	27065186	Nonsense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	5	27065186	54130024	235	20302	81	2	1	17		4	3	579	N	C	1.539536e-05
NEK8	284086	genome.wustl.edu	37	chr17	27065702	27065702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccagacagaggcatcatCatgacattcggcagcggcag	11	6	11	13	2	2	3	2	1	0	2	4	3	3	3	2	3	1	3	2	3	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065702C>G	ENST00000268766.6	+	9	1270	c.1236C>G	c.(1234-1236)atC>atG	p.I412M	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	412					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGGCATCATCATGACATTCG	0.567																																					NSCLC(6;19 293 14866 25253 49845)												0													63	56	58					17																	27065702		2203	4300	6503	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1236C>G	17.37:g.27065702C>G	ENSP00000268766:p.Ile412Met		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I412M	ENST00000268766.6	37	c.1236	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006653	0.35415	.	.	ENSG00000160602	ENST00000268766	T	0.81247	-1.47	5.97	2.95	0.34219	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	L	0.41356	1.27	0.53005	D	0.999968	B	0.31256	0.316	B	0.28553	0.091	T	0.66606	-0.5881	10	0.87932	D	0	.	8.7976	0.34890	0.0:0.7164:0.0:0.2836	.	412	Q86SG6	NEK8_HUMAN	M	412	ENSP00000268766:I412M	ENSP00000268766:I412M	I	+	3	3	NEK8	24089829	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.487000	0.35540	0.442000	0.26555	-0.742000	0.03525	ATC	NEK8	-	superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000160602		0.567	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0	88	0	C			27065702	1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	22.45	37	11	SNP	1.000	G	G	27065702	C	G	27065702	3	3	77	1	0	0	0	0	1	0	0	0	10369	816	29	5	1270	5	NEK8	17	27065702	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	516	27065702	54129508	236	20303			1	17		4	3	579	N	C	1.539536e-05
NEK8	284086	genome.wustl.edu	37	chr17	27065759	27065759	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggcagcctcactgacatCagccaggtgggtgtcacata	10	8	11	12	0	3	1	3	1	0	0	3	1	3	1	2	3	2	1	2	3	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27065759C>T	ENST00000268766.6	+	9	1327	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	431					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TCACTGACATCAGCCAGGTGG	0.597																																					NSCLC(6;19 293 14866 25253 49845)												0													57	51	53					17																	27065759		2203	4300	6503	SO:0001819	synonymous_variant	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"NIMA (never in mitosis gene a)- related kinase 8"			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1293C>T	17.37:g.27065759C>T			A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I431	ENST00000268766.6	37	c.1293	CCDS32597.1	17																																																																																			NEK8	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000160602		0.597	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0	94	0	C			27065759	1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	silent	17.14	58	12	SNP	0.993	T	T	27065759	C	T	27065759	2	4	77	1	0	0	0	0	0	0	0	1	10369	816	29	3		3	NEK8	17	27065759	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	57	27065759	54129451	237	20304			1	17		4	3	579	N	C	1.539536e-05
TAOK1	57551	genome.wustl.edu	37	chr17	27822698	27822698	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagaaactccttttcCaggaggcacataatggacca	15	8	9	9	0	0	3	0	1	0	2	2	5	2	5	3	3	1	1	3	3	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:27822698C>T	ENST00000261716.3	+	11	1471	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TAOK1_ENST00000536202.1_Nonsense_Mutation_p.Q318*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	318					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.Q318*(4)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ACTCCTTTTCCAGGAGGCACA	0.408																																																	4	Substitution - Nonsense(4)	lung(4)											89	82	84					17																	27822698		2203	4300	6503	SO:0001587	stop_gained	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.952C>T	17.37:g.27822698C>T	ENSP00000261716:p.Gln318*		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q318*	ENST00000261716.3	37	c.952	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	C	42	9.699256	0.99241	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	.	.	.	5.21	5.21	0.72293	.	0.055003	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.1313	0.93408	0.0:1.0:0.0:0.0	.	.	.	.	X	318	.	ENSP00000261716:Q318X	Q	+	1	0	TAOK1	24846824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	2.595000	0.87683	0.557000	0.71058	CAG	TAOK1	-	superfamily_Kinase-like_dom	ENSG00000160551		0.408	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	-	0	58	0	C	NM_020791		27822698	1	tier1	-	no_errors	ENST00000261716	ensembl	human	known	74_37	nonsense	28.00	36	14	SNP	1.000	T	T	27822698	C	T	27822698	4	4	77	1	0	0	0	0	0	1	0	0	15594	595	21	3	990	3	TAOK1	17	27822698	Nonsense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	756939	27822698	53372512	238	20305											
CCT6B	10693	genome.wustl.edu	37	chr17	33266673	33266673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagaccagcatgtcccaagCaatctacagtgagatcttca	14	8	7	12	0	3	2	1	1	2	2	4	3	4	2	2	0	3	2	2	0	4	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:33266673C>A	ENST00000314144.5	-	9	1143	c.1028G>T	c.(1027-1029)tGc>tTc	p.C343F	CCT6B_ENST00000421975.3_Missense_Mutation_p.C306F|CCT6B_ENST00000436961.3_Missense_Mutation_p.C298F	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	343					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				ATGTCCCAAGCAATCTACAGT	0.363																																																	0													112	97	102					17																	33266673		2203	4300	6503	SO:0001583	missense	0			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"Heat Shock Proteins / Chaperonins"	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.1028G>T	17.37:g.33266673C>A	ENSP00000327191:p.Cys343Phe		B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.C343F	ENST00000314144.5	37	c.1028	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794285	0.31777	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.78364	-1.17;-1.17;-1.17	4.7	3.57	0.40892	.	0.130780	0.64402	D	0.000001	T	0.79155	0.4398	M	0.89214	3.015	0.49051	D	0.999749	B;P;P	0.42556	0.007;0.598;0.783	B;B;P	0.44422	0.053;0.279;0.449	T	0.76217	-0.3040	10	0.09843	T	0.71	-0.0356	8.8526	0.35210	0.0:0.8577:0.0:0.1423	.	298;306;343	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	F	306;343;298	ENSP00000398044:C306F;ENSP00000327191:C343F;ENSP00000400917:C298F	ENSP00000327191:C343F	C	-	2	0	CCT6B	30290786	1.000000	0.71417	0.977000	0.42913	0.976000	0.68499	3.093000	0.50217	1.076000	0.40961	0.563000	0.77884	TGC	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta	ENSG00000132141		0.363	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1		0	54	0	C	NM_006584		33266673	-1			no_errors	ENST00000314144	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	33266673	C	A	33266673	3	1	77	1	0	0	0	0	1	0	0	0	2965	710	25	3	588	3	CCT6B	17	33266673	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	5443975	33266673	47928537	239	20306											
RARA	5914	genome.wustl.edu	37	chr17	38508238	38508238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagctacacgctgacgccGgaggtgggggagctcattga	9	6	17	9	3	1	3	1	2	0	1	1	6	1	5	1	4	3	3	1	4	1	2	rs200393055		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:38508238G>A	ENST00000254066.5	+	5	1001	c.546G>A	c.(544-546)ccG>ccA	p.P182P	RARA_ENST00000394086.3_Silent_p.P198P|RARA_ENST00000394089.2_Silent_p.P182P|RARA_ENST00000394081.3_Silent_p.P177P|RARA_ENST00000425707.3_Silent_p.P85P|RARA_ENST00000420042.1_3'UTR	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	182	Hinge.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGCTGACGCCGGAGGTGGGGG	0.592			T	"PML, ZNF145, TIF1, NUMA1, NPM1"	APL																																			Dom	yes		17	17q12	5914	"retinoic acid receptor, alpha"		L	0													35	35	35					17																	38508238		2201	4298	6499	SO:0001819	synonymous_variant	0			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"Nuclear hormone receptors"	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.546G>A	17.37:g.38508238G>A			B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.P182	ENST00000254066.5	37	c.546	CCDS11366.1	17																																																																																			RARA	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt	ENSG00000131759		0.592	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARA	HGNC	protein_coding	OTTHUMT00000257136.2	-	0	64	0	G			38508238	1	tier1	rs200393055	no_errors	ENST00000254066	ensembl	human	known	74_37	silent	11.27	63	8	SNP	0.220	A	A	38508238	G	A	38508238	2	1	77	1	0	0	0	0	0	0	0	1	13097	1103	39	1		1	RARA	17	38508238	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	5241565	38508238	42686972	240	20307											
DHX58	79132	genome.wustl.edu	37	chr17	40262783	40262783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgagtttggaggccccGccagtgcctggggaggctgt	5	8	16	12	2	0	0	0	0	0	0	1	3	0	2	5	5	1	2	5	5	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:40262783G>A	ENST00000251642.3	-	5	741	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	173	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGAGGCCCCGCCAGTGCCTG	0.637																																																	0													86	86	86					17																	40262783		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.519C>T	17.37:g.40262783G>A			Q9HAM6	Silent	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G173	ENST00000251642.3	37	c.519	CCDS11416.1	17																																																																																			DHX58	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000108771		0.637	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	HGNC	protein_coding	OTTHUMT00000257396.1	-	0	20	0	G	NM_024119		40262783	-1	tier1	-	no_errors	ENST00000251642	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.400	A	A	40262783	G	A	40262783	2	1	77	1	0	0	0	0	0	0	0	1	4528	1074	38	1		1	DHX58	17	40262783	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1754545	40262783	40932427	241	20308											
HSF5	124535	genome.wustl.edu	37	chr17	56544263	56544263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggaagtagttgcagtGtgcataggaagaggcattgg	11	10	15	5	0	0	1	0	0	0	1	0	3	0	3	1	4	3	5	1	4	5	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:56544263G>T	ENST00000323777.3	-	3	1112	c.1003C>A	c.(1003-1005)Cac>Aac	p.H335N		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	335					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TAGTTGCAGTGTGCATAGGAA	0.418																																																	0													182	147	159					17																	56544263		2203	4300	6503	SO:0001583	missense	0			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.1003C>A	17.37:g.56544263G>T	ENSP00000313243:p.His335Asn		Q08EH7|Q8N7V2	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd	p.H335N	ENST00000323777.3	37	c.1003	CCDS32690.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292562	0.80914	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.71579	-0.58	6.08	6.08	0.98989	.	0.121832	0.56097	D	0.000031	T	0.76535	0.4001	L	0.27053	0.805	0.44462	D	0.997395	D	0.63880	0.993	D	0.70227	0.968	T	0.77811	-0.2449	10	0.66056	D	0.02	.	17.3914	0.87432	0.0:0.0:1.0:0.0	.	335	Q4G112	HSF5_HUMAN	N	235;335	ENSP00000313243:H335N	ENSP00000313243:H335N	H	-	1	0	HSF5	53899262	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.217000	0.58547	2.894000	0.99253	0.591000	0.81541	CAC	HSF5	-	NULL	ENSG00000176160		0.418	HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF5	HGNC	protein_coding	OTTHUMT00000444719.1	-	0	79	0	G	XM_064190		56544263	-1	tier1	-	no_errors	ENST00000323777	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	56544263	G	T	56544263	3	4	77	1	0	0	0	0	1	0	0	0	7426	1377	48	3	803	3	HSF5	17	56544263	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	16281480	56544263	24650947	242	20309											
KCNH6	81033	genome.wustl.edu	37	chr17	61621399	61621399	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatgagctggggccccagTtcccctctaagggctacagc	7	7	11	16	0	1	1	0	1	1	0	2	1	2	1	5	3	3	3	5	3	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:61621399T>G	ENST00000583023.1	+	11	2271	c.2260T>G	c.(2260-2262)Ttc>Gtc	p.F754V	KCNH6_ENST00000314672.5_Intron|KCNH6_ENST00000456941.2_Intron|KCNH6_ENST00000581784.1_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	754					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GGGGCCCCAGTTCCCCTCTAA	0.642																																																	0													20	21	21					17																	61621399		2201	4298	6499	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2260T>G	17.37:g.61621399T>G	ENSP00000463533:p.Phe754Val		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.F754V	ENST00000583023.1	37	c.2260	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	t	9.723	1.160315	0.21454	.	.	ENSG00000173826	ENST00000314672	.	.	.	3.98	-7.95	0.01148	.	6.999440	0.00357	N	0.000037	T	0.13457	0.0326	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21484	-1.0244	9	0.15499	T	0.54	.	0.7634	0.01011	0.1979:0.2026:0.3061:0.2935	.	754	Q9H252	KCNH6_HUMAN	V	754	.	ENSP00000318212:F754V	F	+	1	0	KCNH6	58975131	0.000000	0.05858	0.000000	0.03702	0.452000	0.32318	-3.292000	0.00524	-2.604000	0.00449	-0.344000	0.07964	TTC	KCNH6	-	NULL	ENSG00000173826		0.642	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0	51	0	T	NM_030779		61621399	1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.000	G	G	61621399	T	G	61621399	3	3	77	1	0	0	0	0	1	0	0	0	8063	1725	60	4	2302	4	KCNH6	17	61621399	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	5077136	61621399	19573811	243	20310											
SDK2	54549	genome.wustl.edu	37	chr17	71389755	71389755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggctgccgtccccgatgCgtgtgaaggccagcacctgg	5	7	16	13	3	0	1	0	1	0	0	1	2	1	1	5	4	3	2	5	4	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr17:71389755C>T	ENST00000392650.3	-	27	3842	c.3842G>A	c.(3841-3843)cGc>cAc	p.R1281H	SDK2_ENST00000388726.3_Missense_Mutation_p.R1281H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1281	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R1281H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCCCCGATGCGTGTGAAGGC	0.637																																																	1	Substitution - Missense(1)	large_intestine(1)											61	55	57					17																	71389755		2203	4300	6503	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3842G>A	17.37:g.71389755C>T	ENSP00000376421:p.Arg1281His		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1281H	ENST00000392650.3	37	c.3842	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.215483	0.95104	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.57595	0.39;0.39;0.39	5.41	5.41	0.78517	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.058360	0.64402	D	0.000002	T	0.76856	0.4046	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.994	T	0.79364	-0.1834	10	0.54805	T	0.06	.	19.1974	0.93695	0.0:1.0:0.0:0.0	.	1281;1281;1281	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	H	905;1281;1281;457;1281	ENSP00000376421:R1281H;ENSP00000373378:R1281H;ENSP00000407098:R457H	ENSP00000324967:R1281H	R	-	2	0	SDK2	68901350	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.324000	0.79115	2.527000	0.85204	0.563000	0.77884	CGC	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0	21	0	C	NM_019064		71389755	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	71389755	C	T	71389755	3	4	77	1	0	0	0	0	1	0	0	0	14014	768	27	1	2752	1	SDK2	17	71389755	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	9768356	71389755	9805455	244	20311											
EPB41L3	23136	genome.wustl.edu	37	chr18	5415841	5415841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctctgaactgtcactcggGtcattgtctagggaggcgct	6	12	12	11	2	4	1	2	1	2	0	6	2	5	2	1	3	1	1	1	3	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr18:5415841G>T	ENST00000341928.2	-	13	2383	c.2043C>A	c.(2041-2043)gaC>gaA	p.D681E	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.D681E|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	681	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGTCACTCGGGTCATTGTCTA	0.577																																																	0													80	80	80					18																	5415841		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2043C>A	18.37:g.5415841G>T	ENSP00000343158:p.Asp681Glu		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.D681E	ENST00000341928.2	37	c.2043	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227513	0.79576	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.80909	-1.43;-1.43	5.52	5.52	0.82312	.	0.291907	0.32444	N	0.006081	T	0.74921	0.3780	N	0.24115	0.695	0.80722	D	1	D	0.57257	0.979	P	0.46718	0.525	T	0.72384	-0.4310	10	0.21540	T	0.41	.	19.4559	0.94889	0.0:0.0:1.0:0.0	.	681	Q9Y2J2	E41L3_HUMAN	E	681	ENSP00000343158:D681E;ENSP00000341138:D681E	ENSP00000343158:D681E	D	-	3	2	EPB41L3	5405841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.862000	0.69560	2.586000	0.87340	0.563000	0.77884	GAC	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	30	0	G	NM_012307		5415841	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	50.00	4	4	SNP	1.000	T	T	5415841	G	T	5415841	3	4	77	1	0	0	0	0	1	0	0	0	5170	1252	44	3	1260	3	EPB41L3	18	5415841	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		5415841	72661407	245	20312											
APCDD1	147495	genome.wustl.edu	37	chr18	10487667	10487667	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggaatgagtgcggggccGagggctcctggcaggtgggc	6	5	21	9	3	0	1	0	1	0	0	1	3	1	2	2	7	1	2	2	7	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr18:10487667G>T	ENST00000355285.5	+	5	1531	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*		NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GTGCGGGGCCGAGGGCTCCTG	0.582																																																	0													73	67	69					18																	10487667		2203	4300	6503	SO:0001587	stop_gained	0			AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.1177G>T	18.37:g.10487667G>T	ENSP00000347433:p.Glu393*			Nonsense_Mutation	SNP	NULL	p.E393*	ENST00000355285.5	37	c.1177	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.936328	0.97948	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	.	.	.	5.19	4.31	0.51392	.	0.240310	0.43919	D	0.000513	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-33.0213	15.4986	0.75677	0.0:0.2785:0.7215:0.0	.	.	.	.	X	393;444	.	ENSP00000347433:E393X	E	+	1	0	APCDD1	10477667	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	4.390000	0.59646	1.289000	0.44618	-0.175000	0.13238	GAG	APCDD1	-	NULL	ENSG00000154856		0.582	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	HGNC	protein_coding	OTTHUMT00000254529.2	-	0	37	0	G	NM_153000		10487667	1	tier1	-	no_errors	ENST00000355285	ensembl	human	known	74_37	nonsense	13.04	20	3	SNP	0.965	T	T	10487667	G	T	10487667	4	4	77	1	0	0	0	0	0	1	0	0	765	1059	37	2	1195	2	APCDD1	18	10487667	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	5071826	10487667	67589581	246	20313											
IMPACT	55364	genome.wustl.edu	37	chr18	22008835	22008835	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaacctgcattgtaggtGatgctgccgaatgaataccc	10	12	10	9	1	0	3	0	3	0	0	0	4	0	3	3	1	5	3	3	1	5	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr18:22008835G>T	ENST00000284202.4	+	3	309	c.168G>T	c.(166-168)gtG>gtT	p.V56V	Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	56	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CATTGTAGGTGATGCTGCCGA	0.368																																																	0													125	111	116					18																	22008835		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"RWD domain containing 5"	615319	"Impact homolog (mouse)"			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.168G>T	18.37:g.22008835G>T			A8MXG0|Q49AM0|Q9H2X4	Silent	SNP	pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.V56	ENST00000284202.4	37	c.168	CCDS11886.1	18																																																																																			IMPACT	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000154059		0.368	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPACT	HGNC	protein_coding	OTTHUMT00000254901.1		0	99	0	G	NM_018439		22008835	1			no_errors	ENST00000284202	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	22008835	G	T	22008835	2	4	77	1	0	0	0	0	0	0	0	1	7751	1277	45	3		3	IMPACT	18	22008835	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	11521168	22008835	56068413	247	20314											
PIP5K1C	23396	genome.wustl.edu	37	chr19	3653585	3653585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccgcgggttctggttgagGttctgccgggggaagagggc	4	9	20	8	3	2	2	0	1	2	1	3	3	3	3	2	6	1	3	2	6	1	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:3653585G>A	ENST00000335312.3	-	7	712	c.624C>T	c.(622-624)aaC>aaT	p.N208N	PIP5K1C_ENST00000537021.1_Silent_p.N208N|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Silent_p.N208N|PIP5K1C_ENST00000589578.1_Silent_p.N208N	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	208	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGGTTGAGGTTCTGCCGGG	0.652																																					Esophageal Squamous(135;99 1744 12852 27186 39851)												0													53	52	52					19																	3653585		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.624C>T	19.37:g.3653585G>A			B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Silent	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.N208	ENST00000335312.3	37	c.624	CCDS32872.1	19																																																																																			PIP5K1C	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000186111		0.652	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIP5K1C	HGNC	protein_coding	OTTHUMT00000453432.2	-	0	76	0	G	NM_012398		3653585	-1	tier1	-	no_errors	ENST00000537021	ensembl	human	known	74_37	silent	60.58	41	63	SNP	1.000	A	A	3653585	G	A	3653585	2	1	77	1	0	0	0	0	0	0	0	1	11980	1252	44	3		3	PIP5K1C	19	3653585	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		3653585	55475398	248	20315											
MATK	4145	genome.wustl.edu	37	chr19	3784834	3784834	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcaccgttggcatccTggctgagacgggaggggggt	7	7	16	11	2	1	1	1	1	0	1	2	3	2	2	2	6	0	3	2	6	0	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:3784834T>A	ENST00000310132.6	-	3	519	c.121A>T	c.(121-123)Agg>Tgg	p.R41W	MATK_ENST00000585778.1_Missense_Mutation_p.R41W|MATK_ENST00000395045.2_Missense_Mutation_p.R42W|MATK_ENST00000590821.1_5'Flank|MATK_ENST00000395040.2_5'UTR	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	41					cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGGCATCCTGGCTGAGACG	0.662																																																	0													26	27	27					19																	3784834		2159	4231	6390	SO:0001583	missense	0			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"SH2 domain containing"	6906	protein-coding gene	gene with protein product	"Csk-homologous kinase", "tyrosine-protein kinase CTK", "protein kinase HYL", "hematopoietic consensus tyrosine-lacking kinase", "tyrosylprotein kinase", "hydroxyaryl-protein kinase", "Csk-type protein tyrosine kinase", "HYL tyrosine kinase", "tyrosine kinase MATK", "leukocyte carboxyl-terminal src kinase related"	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.121A>T	19.37:g.3784834T>A	ENSP00000308734:p.Arg41Trp		B3KNZ9|Q9NST8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R42W	ENST00000310132.6	37	c.124	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857636	0.51376	.	.	ENSG00000007264	ENST00000395045;ENST00000310132	T;T	0.75367	-0.9;-0.93	4.76	4.76	0.60689	.	0.782138	0.11624	U	0.545478	T	0.65893	0.2735	N	0.24115	0.695	0.27549	N	0.950565	D;D;D	0.57257	0.979;0.979;0.979	P;P;P	0.46975	0.533;0.533;0.533	T	0.56637	-0.7946	10	0.37606	T	0.19	-23.0606	10.6661	0.45731	0.0:0.0:0.0:1.0	.	41;42;41	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	W	42;41	ENSP00000378485:R42W;ENSP00000308734:R41W	ENSP00000308734:R41W	R	-	1	2	MATK	3735834	0.517000	0.26226	0.994000	0.49952	0.063000	0.16089	0.689000	0.25437	1.779000	0.52309	0.374000	0.22700	AGG	MATK	-	NULL	ENSG00000007264		0.662	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	-	0	98	0	T	NM_139355		3784834	-1	tier1	-	no_errors	ENST00000395045	ensembl	human	known	74_37	missense	30.26	52	23	SNP	0.992	A	A	3784834	T	A	3784834	3	1	77	1	0	0	0	0	1	0	0	0	9370	1579	55	5	1450	5	MATK	19	3784834	Missense_Mutation	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	131249	3784834	55344149	249	20316											
PLIN5	440503	genome.wustl.edu	37	chr19	4529803	4529803	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccggggtaccgtctccGaaggttgctggagaaaggga	8	8	16	9	4	1	1	0	0	1	1	4	4	2	2	3	5	2	3	3	5	3	2	rs200136383		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:4529803G>T	ENST00000381848.3	-	4	412	c.332C>A	c.(331-333)tCg>tAg	p.S111*	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	111	Essential for lipid droplet targeting. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)		p.S111L(1)		endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TACCGTCTCCGAAGGTTGCTG	0.612																																																	1	Substitution - Missense(1)	endometrium(1)											80	83	82					19																	4529803		1931	4126	6057	SO:0001587	stop_gained	0			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"Perilipins"	33196	protein-coding gene	gene with protein product	"lipid storage droplet protein 5"	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.332C>A	19.37:g.4529803G>T	ENSP00000371272:p.Ser111*		A2RRC1|Q6ZS68	Nonsense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.S111*	ENST00000381848.3	37	c.332	CCDS42473.1	19	.	.	.	.	.	.	.	.	.	.	.	19.31	3.802653	0.70682	.	.	ENSG00000214456	ENST00000381848	.	.	.	4.2	4.2	0.49525	.	14.299300	0.01109	U	0.005535	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9789	14.0444	0.64695	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000371272:S111X	S	-	2	0	PLIN5	4480803	0.999000	0.42202	0.991000	0.47740	0.151000	0.21798	7.538000	0.82048	1.897000	0.54924	0.462000	0.41574	TCG	PLIN5	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000214456		0.612	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN5	HGNC	protein_coding	OTTHUMT00000458647.1	-	0	108	0	G	NM_001013706		4529803	-1	tier1	-	no_errors	ENST00000381848	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	0.995	T	T	4529803	G	T	4529803	4	4	77	1	0	0	0	0	0	1	0	0	12132	1059	37	2	1079	2	PLIN5	19	4529803	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	744969	4529803	54599180	250	20317											
CAPS	8498	genome.wustl.edu	37	chr19	5915123	5915123	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgctgcgccgcttccTggacaacttcgactcctctg	5	10	11	15	4	1	0	0	0	1	0	4	3	3	1	3	2	3	2	3	2	1	2	rs142947292		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:5915123T>C	ENST00000340578.6	-	0	3233				CAPS_ENST00000222125.5_Missense_Mutation_p.L145P|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Missense_Mutation_p.L231P|CAPS_ENST00000452990.2_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CGCCGCTTCCTGGACAACTTC	0.711																																																	0								T	PRO/LEU,	0,4406		0,0,2203	84	73	76		434,	5	1	19	dbSNP_134	76	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	CAPS	NM_004058.3,NM_080590.2	98,	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,	145/190,	5915123	1,13003	2203	4299	6502	SO:0001628	intergenic_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5915123T>C			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.L145P	ENST00000340578.6	37	c.434	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	T	23.4	4.406770	0.83230	0.0	1.16E-4	ENSG00000105519	ENST00000394521;ENST00000222125	T	0.73575	-0.76	5.02	5.02	0.67125	EF-hand-like domain (1);	0.109197	0.37219	N	0.002195	D	0.86896	0.6043	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.88944	0.3382	10	0.72032	D	0.01	-14.3749	12.6709	0.56866	0.0:0.0:0.0:1.0	.	145	Q13938	CAYP1_HUMAN	P	278;145	ENSP00000222125:L145P	ENSP00000222125:L145P	L	+	2	0	CAPS	5866123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.707000	0.74654	1.873000	0.54277	0.454000	0.30748	CTG	CAPS	-	smart_EF_hand_dom	ENSG00000105519		0.711	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPS	HGNC	protein_coding	OTTHUMT00000452304.1		0	75	0	T	NM_007322		5915123	1			no_errors	ENST00000222125	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C	C	5915123	T	C	5915123	1	2	77	0	1	0	0	0	0	0	0	0	2644	1580	55	4		4	CAPS	19	5915123	IGR	SNP	T	TCGA-L5-A891-01A-11D-A36J-09	1385320	5915123	53213860	251	20318											
TRIP10	9322	genome.wustl.edu	37	chr19	6750420	6750420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacagcagcagcaacagcGcatcacaggacaccaaggag	16	1	11	13	1	1	1	1	0	0	1	1	3	1	3	1	2	5	4	1	2	2	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:6750420G>A	ENST00000313244.9	+	13	1548	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	TRIP10_ENST00000313285.8_Missense_Mutation_p.A449T|TRIP10_ENST00000600428.1_Missense_Mutation_p.A341T|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Missense_Mutation_p.A449T			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	505	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CAGCAACAGCGCATCACAGGA	0.637																																																	0													55	65	61					19																	6750420		2203	4300	6503	SO:0001583	missense	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1513G>A	19.37:g.6750420G>A	ENSP00000320117:p.Ala505Thr		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.A505T	ENST00000313244.9	37	c.1513		19	.	.	.	.	.	.	.	.	.	.	G	2.249	-0.372096	0.05034	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.73575	-0.76;-0.76	4.42	1.96	0.26148	.	2.275110	0.01712	N	0.027763	T	0.48822	0.1521	N	0.08118	0	0.09310	N	1	P;B;B	0.37233	0.588;0.031;0.0	B;B;B	0.29524	0.103;0.01;0.0	T	0.52823	-0.8524	10	0.11182	T	0.66	-0.5287	4.3466	0.11136	0.138:0.0:0.652:0.21	.	449;505;449	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	T	449;505;449	ENSP00000320493:A449T;ENSP00000320117:A505T	ENSP00000320117:A505T	A	+	1	0	TRIP10	6701420	0.023000	0.18921	0.001000	0.08648	0.337000	0.28794	1.676000	0.37565	0.932000	0.37266	0.313000	0.20887	GCA	TRIP10	-	NULL	ENSG00000125733		0.637	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	-	0	89	0	G			6750420	1	tier1	-	no_errors	ENST00000313244	ensembl	human	known	74_37	missense	41.67	28	20	SNP	0.000	A	A	6750420	G	A	6750420	3	1	77	1	0	0	0	0	1	0	0	0	16602	1087	38	1	1391	1	TRIP10	19	6750420	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	835297	6750420	52378563	252	20319											
INSR	3643	genome.wustl.edu	37	chr19	7117386	7117386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggttggcctcatcttgGggttgaattgccagcacatg	8	11	14	8	0	2	1	1	1	1	0	2	2	2	2	2	5	2	3	2	5	2	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:7117386G>T	ENST00000302850.5	-	22	3972	c.3830C>A	c.(3829-3831)cCc>cAc	p.P1277H	INSR_ENST00000341500.5_Missense_Mutation_p.P1265H	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CCTCATCTTGGGGTTGAATTG	0.597																																																	0													102	92	95					19																	7117386		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3830C>A	19.37:g.7117386G>T	ENSP00000303830:p.Pro1277His		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.P1277H	ENST00000302850.5	37	c.3830	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665678	0.88251	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.92545	-3.06;-3.06	5.14	5.14	0.70334	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000330	D	0.96433	0.8836	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.99;0.996	D	0.96866	0.9636	10	0.87932	D	0	.	16.1617	0.81721	0.0:0.0:1.0:0.0	.	1265;1277	P06213-2;P06213	.;INSR_HUMAN	H	1277;1265	ENSP00000303830:P1277H;ENSP00000342838:P1265H	ENSP00000303830:P1277H	P	-	2	0	INSR	7068386	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.228000	0.95250	2.667000	0.90743	0.563000	0.77884	CCC	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171105		0.597	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	-	0	42	0	G			7117386	-1	tier1	-	no_errors	ENST00000302850	ensembl	human	known	74_37	missense	41.30	27	19	SNP	1.000	T	T	7117386	G	T	7117386	3	4	77	1	0	0	0	0	1	0	0	0	7800	1232	43	3	322	3	INSR	19	7117386	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	366966	7117386	52011597	253	20320											
MARCH2	51257	genome.wustl.edu	37	chr19	8495623	8495623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgttcatcacaccgctgGccgccatctcaggctggttg	5	11	10	15	2	3	0	3	0	1	0	5	0	4	0	4	3	0	4	4	3	0	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:8495623G>T	ENST00000602117.1	+	4	909	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	MARCH2_ENST00000215555.2_Missense_Mutation_p.A152S|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.A152S			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	152					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CACACCGCTGGCCGCCATCTC	0.667																																																	0													106	88	94					19																	8495623		2203	4300	6503	SO:0001583	missense	0			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.454G>T	19.37:g.8495623G>T	ENSP00000471536:p.Ala152Ser		A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.A152S	ENST00000602117.1	37	c.454	CCDS12202.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.070692	0.93950	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.20738	2.05;2.05	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	P	0.53689	0.732	T	0.52487	-0.8569	10	0.72032	D	0.01	-15.2812	15.7466	0.77949	0.0:0.0:1.0:0.0	.	152	Q9P0N8	MARH2_HUMAN	S	152	ENSP00000377518:A152S;ENSP00000215555:A152S	ENSP00000215555:A152S	A	+	1	0	MARCH2	8401623	1.000000	0.71417	0.975000	0.42487	0.974000	0.67602	9.592000	0.98245	2.364000	0.80123	0.448000	0.29417	GCC	MARCH2	-	NULL	ENSG00000099785		0.667	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH2	HGNC	protein_coding	OTTHUMT00000460361.2		0	64	0	G	NM_016496		8495623	1			no_errors	ENST00000215555	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	8495623	G	T	8495623	3	4	77	1	0	0	0	0	1	0	0	0	9339	1203	42	3	464	3	MARCH2	19	8495623	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1378237	8495623	50633360	254	20321											
ILF3	3609	genome.wustl.edu	37	chr19	10787873	10787873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtacgaaatactgcaatCtgtcgacgatgctgcgattg	12	10	10	9	4	1	0	0	0	1	0	2	4	1	0	0	0	5	3	0	0	5	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:10787873C>T	ENST00000590261.1	+	4	446	c.446C>T	c.(445-447)tCt>tTt	p.S149F	ILF3_ENST00000407004.3_Missense_Mutation_p.S149F|ILF3_ENST00000449870.1_Missense_Mutation_p.S149F|ILF3_ENST00000420083.1_Missense_Mutation_p.S149F|ILF3_ENST00000592763.1_Missense_Mutation_p.S149F|ILF3_ENST00000588657.1_Missense_Mutation_p.S149F|ILF3_ENST00000250241.8_Missense_Mutation_p.S149F|ILF3_ENST00000318511.3_Missense_Mutation_p.S149F|ILF3_ENST00000589998.1_Missense_Mutation_p.S149F			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	149	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S149F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ATACTGCAATCTGTCGACGAT	0.398																																																	1	Substitution - Missense(1)	breast(1)											130	126	128					19																	10787873		2203	4300	6503	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.446C>T	19.37:g.10787873C>T	ENSP00000468156:p.Ser149Phe		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.S149F	ENST00000590261.1	37	c.446	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083949	0.76642	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.7	5.7	0.88788	DZF (2);	0.537337	0.20644	N	0.088350	T	0.53270	0.1786	L	0.47016	1.485	0.33540	D	0.594732	D;D;P;P;P	0.60160	0.983;0.987;0.942;0.911;0.63	P;P;P;B;B	0.54346	0.633;0.749;0.708;0.346;0.188	T	0.61486	-0.7053	10	0.33940	T	0.23	.	13.5533	0.61745	0.1559:0.8441:0.0:0.0	.	149;149;149;149;149	G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;ILF3_HUMAN;.;.;.	F	149	ENSP00000404121:S149F;ENSP00000315205:S149F;ENSP00000405436:S149F;ENSP00000384660:S149F;ENSP00000250241:S149F	ENSP00000250241:S149F	S	+	2	0	ILF3	10648873	0.792000	0.28813	0.955000	0.39395	0.981000	0.71138	1.709000	0.37909	2.676000	0.91093	0.650000	0.86243	TCT	ILF3	-	pfam_DZF,smart_DZF	ENSG00000129351		0.398	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1		0	60	0	C			10787873	1			no_errors	ENST00000449870	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.809	T	T	10787873	C	T	10787873	3	4	77	1	0	0	0	0	1	0	0	0	7739	913	32	3	460	3	ILF3	19	10787873	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2292250	10787873	48341110	255	20322											
CCDC151	115948	genome.wustl.edu	37	chr19	11532477	11532477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctggggatccagctcCtttcccgcgaagcggccgtc	4	9	12	16	4	1	0	0	0	1	0	5	2	4	1	5	3	3	1	5	3	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:11532477C>T	ENST00000356392.4	-	11	1545	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	RGL3_ENST00000393423.3_5'Flank|CCDC151_ENST00000586836.1_Silent_p.K295K|RGL3_ENST00000380456.3_5'Flank|CCDC151_ENST00000545100.1_Silent_p.K432K|CCDC151_ENST00000591179.1_Silent_p.K426K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	486										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GATCCAGCTCCTTTCCCGCGA	0.662																																																	0													48	53	51					19																	11532477		1894	4086	5980	SO:0001819	synonymous_variant	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1458G>A	19.37:g.11532477C>T			B4DXT0|Q96CG5	Silent	SNP	NULL	p.K486	ENST00000356392.4	37	c.1458	CCDS42501.1	19																																																																																			CCDC151	-	NULL	ENSG00000198003		0.662	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	-	0	98	0	C	NM_145045		11532477	-1	tier1	-	no_errors	ENST00000356392	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.795	T	T	11532477	C	T	11532477	2	4	77	1	0	0	0	0	0	0	0	1	2793	680	24	3		3	CCDC151	19	11532477	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	744604	11532477	47596506	256	20323											
RASAL3	64926	genome.wustl.edu	37	chr19	15572331	15572331	+	Frame_Shift_Del	DEL	C	C	-																															tcccatcaagcagggtgaagCccccaatgtcccagacaggc																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:15572331delC	ENST00000343625.7	-	3	501	c.416delG	c.(415-417)ggcfs	p.G139fs		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	139					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CAGGGTGAAGCCCCCAATGTC	0.622																																																	0													10	12	12					19																	15572331		1913	4095	6008	SO:0001589	frameshift_variant	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.416delG	19.37:g.15572331delC	ENSP00000341905:p.Gly139fs		Q8N2T9|Q9H735	Frame_Shift_Del	DEL	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP	p.G139fs	ENST00000343625.7	37	c.416	CCDS46006.1	19																																																																																			RASAL3	-	NULL	ENSG00000105122		0.622	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3		0	134	0	C	NM_022904		15572331	-1	tier1		no_errors	ENST00000343625	ensembl	human	known	74_37	frame_shift_del	11.11	72	9	DEL	0.977	-	-	15572331	C	-	15572331	7	5	77	1	0	1	0	1	0	0	0	0	13110	739	26	0	2683	0	RASAL3	19	15572331	Frame_Shift_Del	DEL	C	TCGA-L5-A891-01A-11D-A36J-09	4039854	15572331	43556652	257	20324											
FAM125A	93343	genome.wustl.edu	37	chr19	17534606	17534606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccagcctctatggcatctCaggtgagcacagagtgggga	9	8	13	11	0	2	2	1	1	2	1	4	3	3	3	2	4	2	2	2	4	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:17534606C>T	ENST00000317040.7	+	6	1693	c.638C>T	c.(637-639)tCa>tTa	p.S213L	MVB12A_ENST00000392702.2_Missense_Mutation_p.S173L|MVB12A_ENST00000529939.1_Missense_Mutation_p.S213L|MVB12A_ENST00000528515.1_Nonsense_Mutation_p.Q171*|CTD-2521M24.6_ENST00000593957.1_RNA|MVB12A_ENST00000543795.1_Missense_Mutation_p.S213L			Q96EY5	MB12A_HUMAN	multivesicular body subunit 12A	213	Interaction with TSG101, VPS37B and VPS28.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|vesicle (GO:0031982)	lipid binding (GO:0008289)|ubiquitin binding (GO:0043130)										TATGGCATCTCAGGTGAGCAC	0.587																																																	0													36	33	34					19																	17534606		2203	4300	6503	SO:0001583	missense	0			BC011840	CCDS12359.1	19p13.11	2013-10-11	2012-12-03	2012-12-03	ENSG00000141971	ENSG00000141971			25153	protein-coding gene	gene with protein product			"family with sequence similarity 125, member A"	FAM125A		18005716, 20654576, 22232651	Standard	NM_138401		Approved	FLJ32495	uc002ngo.1	Q96EY5	OTTHUMG00000166252	ENST00000317040.7:c.638C>T	19.37:g.17534606C>T	ENSP00000324810:p.Ser213Leu		Q96I18	Nonsense_Mutation	SNP	pfam_FAM125	p.Q171*	ENST00000317040.7	37	c.511	CCDS12359.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.6|21.6	4.179767|4.179767	0.78564|0.78564	.|.	.|.	ENSG00000141971|ENSG00000141971	ENST00000528515|ENST00000528911;ENST00000528604;ENST00000317040;ENST00000392702;ENST00000529939;ENST00000543795	.|T;T;T;T;T;T	.|0.54071	.|0.59;0.59;0.59;0.59;0.59;0.59	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.192976	.|0.43919	.|D	.|0.000502	.|T	.|0.70675	.|0.3251	M|M	0.70275|0.70275	2.135|2.135	0.43798|0.43798	D|D	0.996344|0.996344	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	.|T	.|0.74293	.|-0.3712	.|10	0.35671|0.87932	T|D	0.21|0	-0.542|-0.542	13.8911|13.8911	0.63740|0.63740	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|213	.|Q96EY5	.|F125A_HUMAN	X|L	171|121;74;213;173;213;213	.|ENSP00000433280:S121L;ENSP00000435052:S74L;ENSP00000324810:S213L;ENSP00000376466:S173L;ENSP00000432526:S213L;ENSP00000444653:S213L	ENSP00000433677:Q171X|ENSP00000324810:S213L	Q|S	+|+	1|2	0|0	FAM125A|FAM125A	17395606|17395606	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	4.453000|4.453000	0.60061|0.60061	2.342000|2.342000	0.79632|0.79632	0.456000|0.456000	0.33151|0.33151	CAG|TCA	MVB12A	-	NULL	ENSG00000141971		0.587	MVB12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVB12A	HGNC	protein_coding	OTTHUMT00000388723.2	-	0	42	0	C	NM_138401		17534606	1	tier1	-	no_errors	ENST00000528515	ensembl	human	putative	74_37	nonsense	37.04	17	10	SNP	1.000	T	T	17534606	C	T	17534606	3	4	77	1	0	0	0	0	1	0	0	0	5446	838	29	3	660	3	FAM125A	19	17534606	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1962275	17534606	41594377	258	20325											
MAP1S	55201	genome.wustl.edu	37	chr19	17844002	17844002	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccatccccccgcccgcagGgtcagccagcagccggcccg	5	2	11	23	4	1	0	1	0	0	0	2	0	2	0	9	2	3	2	9	2	0	0	rs200058724	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:17844002G>A	ENST00000324096.4	+	6	2940	c.2789G>A	c.(2788-2790)gGg>gAg	p.G930E	MAP1S_ENST00000544059.2_Splice_Site_p.G904E|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	930	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCGCCCGCAGGGTCAGCCAGC	0.721																																																	0													9	9	9					19																	17844002		1997	3919	5916	SO:0001630	splice_region_variant	0			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.2789-1G>A	19.37:g.17844002G>A			B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.G930E	ENST00000324096.4	37	c.2789	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091811	0.55968	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18502	2.21;2.21	4.49	3.41	0.39046	.	0.365789	0.20214	N	0.096833	T	0.28699	0.0711	L	0.48642	1.525	0.53688	D	0.999971	D;D	0.67145	0.982;0.996	P;P	0.62740	0.608;0.906	T	0.00844	-1.1543	9	.	.	.	.	10.121	0.42621	0.0:0.2049:0.7951:0.0	.	904;930	B4DH53;Q66K74	.;MAP1S_HUMAN	E	930;904	ENSP00000325313:G930E;ENSP00000439243:G904E	.	G	+	2	0	MAP1S	17705002	0.923000	0.31300	0.639000	0.29394	0.042000	0.13812	1.221000	0.32503	0.816000	0.34421	0.561000	0.74099	GGG	MAP1S	-	NULL	ENSG00000130479		0.721	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	-	0	93	0	G	NM_018174	Missense_Mutation	17844002	1	tier1	-	no_errors	ENST00000324096	ensembl	human	known	74_37	missense	14.14	85	14	SNP	0.909	A	A	17844002	G	A	17844002	5	1	77	1	0	0	0	0	0	0	1	0	9272	1246	43	3	2811	3	MAP1S	19	17844002	Splice_Site	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	309396	17844002	41284981	259	20326											
ZNF85	7639	genome.wustl.edu	37	chr19	21132093	21132093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactggagagaaaccctAcaaatgtgaagaatgtggca	16	8	10	7	0	1	3	1	1	0	2	1	5	1	4	1	2	3	1	1	2	6	2	rs566341045		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:21132093A>G	ENST00000328178.8	+	4	886	c.773A>G	c.(772-774)tAc>tGc	p.Y258C	ZNF85_ENST00000601023.1_Missense_Mutation_p.Y199C|ZNF85_ENST00000345030.6_Missense_Mutation_p.Y225C	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	258					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCCTACAAATGTGAA	0.353																																																	0													26	29	28					19																	21132093		2167	4270	6437	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.773A>G	19.37:g.21132093A>G	ENSP00000329793:p.Tyr258Cys		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y258C	ENST00000328178.8	37	c.773	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	5.368	0.253135	0.10185	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.25414	1.8;1.8	1.35	-0.205	0.13196	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45677	0.1354	M	0.81497	2.545	0.09310	N	0.99999	P;D;D	0.89917	0.878;1.0;0.997	B;D;D	0.91635	0.408;0.999;0.982	T	0.20538	-1.0272	9	0.72032	D	0.01	.	4.4182	0.11466	0.3802:0.0:0.0:0.6198	.	225;199;258	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	C	258;225;133	ENSP00000329793:Y258C;ENSP00000342340:Y225C	ENSP00000329793:Y258C	Y	+	2	0	ZNF85	20923933	0.000000	0.05858	0.133000	0.22050	0.208000	0.24298	-0.760000	0.04756	0.569000	0.29329	0.379000	0.24179	TAC	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.353	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0	86	0	A	NM_003429		21132093	1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	8.04	103	9	SNP	0.029	G	G	21132093	A	G	21132093	3	3	77	1	0	0	0	0	1	0	0	0	18241	391	14	4	787	4	ZNF85	19	21132093	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	3288091	21132093	37996890	260	20327											
ZNF536	9745	genome.wustl.edu	37	chr19	31040156	31040156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggggacagcctgcaGcccacaggcacctcccagcc	8	3	13	17	1	0	0	0	0	0	0	1	2	1	1	5	4	4	2	5	4	0	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:31040156G>A	ENST00000355537.3	+	4	3777	c.3630G>A	c.(3628-3630)caG>caA	p.Q1210Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1210					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCCTGCAGCCCACAGGCA	0.597																																																	0													52	50	51					19																	31040156		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3630G>A	19.37:g.31040156G>A			A2RU18	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1210	ENST00000355537.3	37	c.3630	CCDS32984.1	19																																																																																			ZNF536	-	NULL	ENSG00000198597		0.597	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	82	0	G	NM_014717		31040156	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	silent	36.73	31	18	SNP	0.940	A	A	31040156	G	A	31040156	2	1	77	1	0	0	0	0	0	0	0	1	18022	962	34	3		3	ZNF536	19	31040156	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	9908063	31040156	28088827	261	20328											
TSHZ3	57616	genome.wustl.edu	37	chr19	31768920	31768920	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtctggctgctgggtggAgagaccagggtctggttttt	5	12	17	7	1	2	1	0	0	2	1	2	4	2	2	1	5	1	3	1	5	0	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:31768920A>G	ENST00000240587.4	-	2	2106	c.1779T>C	c.(1777-1779)tcT>tcC	p.S593S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	593					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCTGGGTGGAGAGACCAGGG	0.552																																																	0													96	103	101					19																	31768920		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1779T>C	19.37:g.31768920A>G			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S593	ENST00000240587.4	37	c.1779	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	36	0	A	NM_020856		31768920	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.008	G	G	31768920	A	G	31768920	2	3	77	1	0	0	0	0	0	0	0	1	16673	291	11	4		4	TSHZ3	19	31768920	Silent	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	728764	31768920	27360063	262	20329											
WDR88	126248	genome.wustl.edu	37	chr19	33628669	33628671	+	In_Frame_Del	DEL	CTA	CTA	-																															acaaagctcctcagtggctcCtatgactgcactgtgaagct																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	CTA	CTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:33628669_33628671delCTA	ENST00000355868.3	+	2	439_441	c.363_365delCTA	c.(361-366)tcctat>tct	p.Y122del	WDR88_ENST00000361680.2_In_Frame_Del_p.Y122del|WDR88_ENST00000592765.1_In_Frame_Del_p.Y122del	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	122										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TCAGTGGCTCCTATGACTGCACT	0.527																																																	0																																										SO:0001651	inframe_deletion	0			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.363_365delCTA	19.37:g.33628669_33628671delCTA	ENSP00000348129:p.Tyr122del		Q8NEF8	In_Frame_Del	DEL	pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y122in_frame_del	ENST00000355868.3	37	c.363_365	CCDS12429.1	19																																																																																			WDR88	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000166359		0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR88	HGNC	protein_coding	OTTHUMT00000450840.1		0	60	0	CTA	NM_173479		33628671	1	tier1		no_errors	ENST00000355868	ensembl	human	known	74_37	in_frame_del	29.41	48	20	DEL	0.996:0.980:0.968	-	-	33628671	CTA	-	33628669	7	5	77	1	0	1	0	1	0	0	0	0	17384	668	24	0	369	0	WDR88	19	33628669	In_Frame_Del	DEL	CTA	TCGA-L5-A891-01A-11D-A36J-09	1859749	33628669	25500314	263	20330	82	2									
WDR88	126248	genome.wustl.edu	37	chr19	33628674	33628674	+	Missense_Mutation	SNP	A	A	T																															gctcctcagtggctcctatgActgcactgtgaagctgtggg																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:33628674A>T	ENST00000355868.3	+	2	444	c.368A>T	c.(367-369)gAc>gTc	p.D123V	WDR88_ENST00000361680.2_Missense_Mutation_p.D123V|WDR88_ENST00000592765.1_Missense_Mutation_p.D123V	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	123										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GGCTCCTATGACTGCACTGTG	0.527																																																	0													94	80	85					19																	33628674		2203	4300	6503	SO:0001583	missense	0			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.368A>T	19.37:g.33628674A>T	ENSP00000348129:p.Asp123Val		Q8NEF8	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D123V	ENST00000355868.3	37	c.368	CCDS12429.1	19	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217972	0.39201	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	D;D	0.89415	-2.51;-2.51	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.620550	0.03703	N	0.248950	D	0.97337	0.9129	H	0.98664	4.295	0.52099	D	0.999949	D	0.89917	1.0	D	0.97110	1.0	D	0.89836	0.3999	10	0.87932	D	0	.	12.2112	0.54381	1.0:0.0:0.0:0.0	.	123	Q6ZMY6	WDR88_HUMAN	V	123	ENSP00000348129:D123V;ENSP00000355148:D123V	ENSP00000348129:D123V	D	+	2	0	WDR88	38320514	1.000000	0.71417	0.756000	0.31282	0.055000	0.15305	5.422000	0.66453	1.922000	0.55676	0.454000	0.30748	GAC	WDR88	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000166359		0.527	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR88	HGNC	protein_coding	OTTHUMT00000450840.1	-	0	58	0	A	NM_173479		33628674	1	tier1	-	no_errors	ENST00000355868	ensembl	human	known	74_37	missense	31.75	43	20	SNP	0.968	T	T	33628674	A	T	33628674	3	4	77	1	0	0	0	0	1	0	0	0	17384	275	10	5	374	5	WDR88	19	33628674	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	5	33628674	25500309	264	20331	82	2									
ZNF383	163087	genome.wustl.edu	37	chr19	37733516	37733516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttggaatatagaagccaCcttgcaaaacaactgggata	15	10	9	7	0	0	1	0	0	0	1	0	3	0	3	2	2	4	2	2	2	8	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:37733516C>T	ENST00000589413.1	+	8	961	c.378C>T	c.(376-378)caC>caT	p.H126H	ZNF383_ENST00000352998.3_Silent_p.H126H|ZNF383_ENST00000590503.1_Silent_p.H126H			Q8NA42	ZN383_HUMAN	zinc finger protein 383	126					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAGAAGCCACCTTGCAAAAC	0.383																																																	0													110	121	118					19																	37733516		2203	4300	6503	SO:0001819	synonymous_variant	0			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"Zinc fingers, C2H2-type", "-"	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.378C>T	19.37:g.37733516C>T			Q6X2C7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H126	ENST00000589413.1	37	c.378	CCDS12501.1	19																																																																																			ZNF383	-	NULL	ENSG00000188283		0.383	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	-	0	87	0	C	NM_152604		37733516	1	tier1	-	no_errors	ENST00000352998	ensembl	human	known	74_37	silent	30.77	54	24	SNP	0.001	T	T	37733516	C	T	37733516	2	4	77	1	0	0	0	0	0	0	0	1	17922	506	18	3		3	ZNF383	19	37733516	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	4104842	37733516	21395467	265	20332											
ZNF571	51276	genome.wustl.edu	37	chr19	38074877	38074877	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggatgatcttacccaatGagatcaggttgctgtagttc	10	13	11	7	0	2	2	1	2	1	1	3	4	2	3	1	2	2	5	1	2	4	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:38074877G>C	ENST00000328550.2	-	3	230	c.131C>G	c.(130-132)tCa>tGa	p.S44*	ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000590751.1_Nonsense_Mutation_p.S44*|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Nonsense_Mutation_p.S44*|ZNF571_ENST00000451802.2_Nonsense_Mutation_p.S44*|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Nonsense_Mutation_p.S44*|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTACCCAATGAGATCAGGTT	0.448																																																	0													177	162	167					19																	38074877		2203	4300	6503	SO:0001587	stop_gained	0			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"Zinc fingers, C2H2-type", "-"	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.131C>G	19.37:g.38074877G>C	ENSP00000333660:p.Ser44*		Q2HIY0|Q3ZCU3|Q9NZX7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S44*	ENST00000328550.2	37	c.131	CCDS12505.1	19	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000809	0.93227	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	.	.	.	3.09	1.99	0.26369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.1272	0.31005	0.1305:0.0:0.8695:0.0	.	.	.	.	X	44	.	ENSP00000333660:S44X	S	-	2	0	ZNF571	42766717	0.240000	0.23847	0.699000	0.30290	0.964000	0.63967	1.539000	0.36104	1.561000	0.49584	0.460000	0.39030	TCA	ZNF571	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000180479		0.448	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1	-	0	122	0	G	NM_016536		38074877	-1	tier1	-	no_errors	ENST00000328550	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.760	C	C	38074877	G	C	38074877	4	2	77	1	0	0	0	0	0	1	0	0	18051	1294	45	5	1706	5	ZNF571	19	38074877	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	341361	38074877	21054106	266	20333											
FCGBP	8857	genome.wustl.edu	37	chr19	40398136	40398136	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaaggccgtggcagggCgccagcgggccgtcggtggc	5	3	20	13	5	0	0	0	0	0	0	1	0	0	0	3	7	1	2	3	7	1	0	rs587697705	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:40398136C>T	ENST00000221347.6	-	14	6838	c.6831G>A	c.(6829-6831)gcG>gcA	p.A2277A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2277	VWFD 5. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGGCAGGGCGCCAGCGGGC	0.706													C|||	5	0.000998403	8e-04	0.0029	5008	,	,		16631	0		0.002	False		,,,				2504	0																0													4	6	5					19																	40398136		1596	3035	4631	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.6831G>A	19.37:g.40398136C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A2277	ENST00000221347.6	37	c.6831	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	35	0	C	NM_003890		40398136	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	66.67	1	2	SNP	0.318	T	T	40398136	C	T	40398136	2	4	77	1	0	0	0	0	0	0	0	1	5800	755	27	1		1	FCGBP	19	40398136	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2323259	40398136	18730847	267	20334											
GRIK5	2901	genome.wustl.edu	37	chr19	42510094	42510094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggtacgtttggtaccGtgaattctgggcaggaggat	7	11	16	7	3	1	1	0	1	1	0	1	3	1	3	1	5	2	5	1	5	3	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:42510094G>A	ENST00000262895.3	-	16	2043	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	GRIK5_ENST00000593562.1_Missense_Mutation_p.R682W|GRIK5_ENST00000301218.4_Missense_Mutation_p.R682W	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	682					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GTTTGGTACCGTGAATTCTGG	0.577																																																	0													83	61	69					19																	42510094		2203	4299	6502	SO:0001583	missense	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2044C>T	19.37:g.42510094G>A	ENSP00000262895:p.Arg682Trp		Q8WWG8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R682W	ENST00000262895.3	37	c.2044	CCDS12595.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.931797|3.931797	0.73442|0.73442	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000262895;ENST00000301218|ENST00000454993	T;T|.	0.11385|.	2.78;2.78|.	4.79|4.79	2.51|2.51	0.30379|0.30379	Ionotropic glutamate receptor (2);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.62159|0.62159	0.2405|0.2405	L|L	0.58583|0.58583	1.82|1.82	0.54753|0.54753	D|D	0.999985|0.999985	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.57837|0.57837	-0.7742|-0.7742	10|5	0.87932|.	D|.	0|.	.|.	12.2063|12.2063	0.54355|0.54355	0.0:0.0:0.6901:0.3099|0.0:0.0:0.6901:0.3099	.|.	682|.	Q16478|.	GRIK5_HUMAN|.	W|M	682|58	ENSP00000262895:R682W;ENSP00000301218:R682W|.	ENSP00000262895:R682W|.	R|T	-|-	1|2	2|0	GRIK5|GRIK5	47201934|47201934	0.989000|0.989000	0.36119|0.36119	0.723000|0.723000	0.30687|0.30687	0.867000|0.867000	0.49689|0.49689	2.263000|2.263000	0.43293|0.43293	0.385000|0.385000	0.24970|0.24970	0.557000|0.557000	0.71058|0.71058	CGG|ACG	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105737		0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1	-	0	24	0	G			42510094	-1	tier1	-	no_errors	ENST00000301218	ensembl	human	known	74_37	missense	85.71	3	18	SNP	0.991	A	A	42510094	G	A	42510094	3	1	77	1	0	0	0	0	1	0	0	0	6804	1144	40	1	914	1	GRIK5	19	42510094	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2111958	42510094	16618889	268	20335											
CIC	23152	genome.wustl.edu	37	chr19	42797972	42797972	+	Frame_Shift_Del	DEL	T	T	-																															ccccgcccctgaagaagaccTttgactctgtggacaagtga																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:42797972delT	ENST00000575354.2	+	16	4064	c.4024delT	c.(4024-4026)tttfs	p.F1342fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.F1340fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.F2249fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGAAGACCTTTGACTCTGT	0.682			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													44	58	53					19																	42797972		2172	4281	6453	SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4024delT	19.37:g.42797972delT	ENSP00000458663:p.Phe1342fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.F1342fs	ENST00000575354.2	37	c.4024	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0	18	0	T			42797972	1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_del	40.00	3	2	DEL	1.000	-	-	42797972	T	-	42797972	7	5	77	1	0	1	0	1	0	0	0	0	3431	1609	56	0	4086	0	CIC	19	42797972	Frame_Shift_Del	DEL	T	TCGA-L5-A891-01A-11D-A36J-09	287878	42797972	16331011	269	20336											
TEX101	83639	genome.wustl.edu	37	chr19	43922138	43922138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacaactcgatgctatcaagGaaaacttgagatcactggag	15	9	9	8	1	2	1	2	1	0	1	3	5	2	3	0	2	4	1	0	2	6	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:43922138G>T	ENST00000598265.1	+	5	666	c.500G>T	c.(499-501)gGa>gTa	p.G167V	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.G185V|TEX101_ENST00000602198.1_Missense_Mutation_p.G185V	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	167	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGCTATCAAGGAAAACTTGAG	0.473																																																	0													178	151	160					19																	43922138		2203	4300	6503	SO:0001583	missense	0			AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"cancer/testis antigen 131", "spermatogenesis associated 44"	612665	"testis expressed sequence 101"			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.500G>T	19.37:g.43922138G>T	ENSP00000472769:p.Gly167Val		Q7L5R2|Q9BPY7	Missense_Mutation	SNP	pfam_LY6_UPAR	p.G185V	ENST00000598265.1	37	c.554	CCDS59393.1	19	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823749	0.50739	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.68765	-0.35	3.88	3.88	0.44766	CD59 antigen (1);	0.000000	0.52532	D	0.000063	T	0.81650	0.4867	M	0.85945	2.785	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84148	0.0421	10	0.87932	D	0	-14.048	11.6574	0.51325	0.0:0.0:1.0:0.0	.	167;185	Q9BY14;Q9BY14-2	TX101_HUMAN;.	V	185;180	ENSP00000253435:G185V	ENSP00000253435:G185V	G	+	2	0	TEX101	48613978	0.998000	0.40836	0.959000	0.39883	0.594000	0.36715	3.083000	0.50136	2.446000	0.82766	0.563000	0.77884	GGA	TEX101	-	pfam_LY6_UPAR	ENSG00000131126		0.473	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	TEX101	HGNC	protein_coding	OTTHUMT00000463176.1	-	0	55	0	G	NM_031451		43922138	1	tier1	-	no_errors	ENST00000253435	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.981	T	T	43922138	G	T	43922138	3	4	77	1	0	0	0	0	1	0	0	0	15820	1174	41	3	572	3	TEX101	19	43922138	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1124166	43922138	15206845	270	20337											
MYPOP	339344	genome.wustl.edu	37	chr19	46393982	46393982	+	Frame_Shift_Del	DEL	G	G	-																															gagcggggctggggggggccGgggtgccccctcctcgctcc																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:46393982delG	ENST00000322217.5	-	3	1185	c.1099delC	c.(1099-1101)cggfs	p.R367fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	367	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGGGGGGGCCGGGGTGCCCCC	0.687																																																	0																																										SO:0001589	frameshift_variant	0			BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1099delC	19.37:g.46393982delG	ENSP00000325402:p.Arg367fs			Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R367fs	ENST00000322217.5	37	c.1099	CCDS33055.1	19																																																																																			MYPOP	-	NULL	ENSG00000176182		0.687	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYPOP	HGNC	protein_coding	OTTHUMT00000461684.1		0	11	0	G	NM_001012643		46393982	-1	tier1		no_errors	ENST00000322217	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	0.008	-	-	46393982	G	-	46393982	7	5	77	1	0	1	0	1	0	0	0	0	10137	1115	39	0	104	0	MYPOP	19	46393982	Frame_Shift_Del	DEL	G	TCGA-L5-A891-01A-11D-A36J-09	2471844	46393982	12735001	271	20338											
CARD8	22900	genome.wustl.edu	37	chr19	48734143	48734143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgttcatggtgctgcagGtccagggccaggtgctgact	6	10	14	11	0	1	1	1	1	0	0	2	1	2	1	2	4	3	4	2	4	0	1	rs148708617	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:48734143G>C	ENST00000359009.4	-	5	660	c.348C>G	c.(346-348)gaC>gaG	p.D116E	CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Missense_Mutation_p.D221E|CARD8_ENST00000519940.1_Missense_Mutation_p.D221E|CARD8_ENST00000391898.3_Missense_Mutation_p.D221E|CARD8_ENST00000520753.1_Missense_Mutation_p.D221E|CARD8_ENST00000447740.2_Missense_Mutation_p.D171E|CARD8_ENST00000521613.1_Missense_Mutation_p.D171E|CARD8_ENST00000520153.1_Missense_Mutation_p.D171E			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	116					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GGTGCTGCAGGTCCAGGGCCA	0.597																																																	0													53	45	47					19																	48734143		2203	4300	6503	SO:0001583	missense	0			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.348C>G	19.37:g.48734143G>C	ENSP00000351901:p.Asp116Glu		B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.D221E	ENST00000359009.4	37	c.663		19	.	.	.	.	.	.	.	.	.	.	G	0.441	-0.898669	0.02472	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37;2.37;2.37;2.37	1.7	-0.676	0.11361	.	.	.	.	.	T	0.09291	0.0229	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P;P;B	0.42757	0.649;0.789;0.789;0.789;0.75;0.597;0.597;0.245	B;B;B;B;B;B;B;B	0.40477	0.22;0.33;0.33;0.33;0.281;0.098;0.14;0.138	T	0.18493	-1.0335	9	0.11182	T	0.66	.	2.0191	0.03505	0.2086:0.0:0.4745:0.3169	.	140;221;221;154;221;171;116;116	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	E	171;221;116;221;171;221;171;221	ENSP00000391248:D171E;ENSP00000375767:D221E;ENSP00000351901:D116E;ENSP00000429839:D221E;ENSP00000428736:D171E;ENSP00000430747:D221E;ENSP00000427858:D171E;ENSP00000428883:D221E	ENSP00000351901:D116E	D	-	3	2	CARD8	53425955	0.001000	0.12720	0.003000	0.11579	0.080000	0.17528	-0.254000	0.08781	-0.130000	0.11599	0.655000	0.94253	GAC	CARD8	-	NULL	ENSG00000105483		0.597	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	HGNC	protein_coding		-	0	77	0	G	NM_014959		48734143	-1	tier1	-	no_errors	ENST00000391898	ensembl	human	known	74_37	missense	32.76	39	19	SNP	0.004	C	C	48734143	G	C	48734143	3	2	77	1	0	0	0	0	1	0	0	0	2658	1252	44	5	974	5	CARD8	19	48734143	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2340161	48734143	10394840	272	20339											
TRPM4	54795	genome.wustl.edu	37	chr19	49699775	49699775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgctgcgggggccgctgCggggggcgccggtgcctacg	1	6	22	12	6	0	0	0	0	0	0	0	0	0	0	3	7	5	3	3	7	1	2	rs200760537	byFrequency	TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:49699775C>T	ENST00000252826.5	+	17	2415	c.2289C>T	c.(2287-2289)tgC>tgT	p.C763C	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Silent_p.C409C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	763					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGGGCCGCTGCGGGGGGCGCC	0.701																																																	0													7	7	7					19																	49699775		2034	3943	5977	SO:0001819	synonymous_variant	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2289C>T	19.37:g.49699775C>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.C763	ENST00000252826.5	37	c.2289	CCDS33073.1	19																																																																																			TRPM4	-	NULL	ENSG00000130529		0.701	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	-	0	35	0	C	NM_017636		49699775	1	tier1	-	no_errors	ENST00000252826	ensembl	human	known	74_37	silent	57.41	23	31	SNP	0.000	T	T	49699775	C	T	49699775	2	4	77	1	0	0	0	0	0	0	0	1	16636	776	27	1		1	TRPM4	19	49699775	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	965632	49699775	9429208	273	20340											
KLK1	3816	genome.wustl.edu	37	chr19	51323186	51323186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttgccaccttccaggtgtCcgacacacagcatgaagtct	9	10	8	14	1	1	1	0	1	1	0	3	2	3	1	4	1	2	1	4	1	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:51323186C>T	ENST00000301420.2	-	4	637	c.602G>A	c.(601-603)gGa>gAa	p.G201E	KLK1_ENST00000448701.2_Missense_Mutation_p.G99E|CTD-2568A17.5_ENST00000326989.5_lincRNA	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	201	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	TTCCAGGTGTCCGACACACAG	0.557																																																	0													92	74	80					19																	51323186		2203	4300	6503	SO:0001583	missense	0			L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"Kallikreins"	6357	protein-coding gene	gene with protein product		147910	"kallikrein 1, renal/pancreas/salivary"			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.602G>A	19.37:g.51323186C>T	ENSP00000301420:p.Gly201Glu		Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G201E	ENST00000301420.2	37	c.602	CCDS12804.1	19	.	.	.	.	.	.	.	.	.	.	c	14.46	2.541120	0.45280	.	.	ENSG00000167748	ENST00000301420;ENST00000448701	D;D	0.90324	-2.65;-2.65	2.91	2.91	0.33838	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.95063	0.8401	M	0.88640	2.97	0.42549	D	0.993103	D	0.76494	0.999	D	0.83275	0.996	D	0.94924	0.8076	9	0.87932	D	0	.	9.5216	0.39138	0.0:1.0:0.0:0.0	.	201	P06870	KLK1_HUMAN	E	201;99	ENSP00000301420:G201E;ENSP00000400994:G99E	ENSP00000301420:G201E	G	-	2	0	KLK1	56014998	0.998000	0.40836	0.843000	0.33291	0.021000	0.10359	6.213000	0.72194	1.937000	0.56155	0.306000	0.20318	GGA	KLK1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000167748		0.557	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK1	HGNC	protein_coding	OTTHUMT00000464135.2	-	0	58	0	C	NM_002257		51323186	-1	tier1	-	no_errors	ENST00000301420	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.992	T	T	51323186	C	T	51323186	3	4	77	1	0	0	0	0	1	0	0	0	8424	855	30	3	194	3	KLK1	19	51323186	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1623411	51323186	7805797	274	20341											
CNOT3	4849	genome.wustl.edu	37	chr19	54649343	54649343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccagcagaagcaggacCggattgagggcttgaagcgg	10	5	16	10	3	0	3	0	2	0	1	1	5	0	5	2	4	3	3	2	4	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:54649343C>T	ENST00000406403.1	+	7	2096	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R165W			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	165					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGCAGGACCGGATTGAGGG	0.632																																																	0													73	54	60					19																	54649343		2203	4300	6503	SO:0001583	missense	0			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"NOT3 (negative regulator of transcription 3, yeast) homolog"	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.493C>T	19.37:g.54649343C>T	ENSP00000383954:p.Arg165Trp		Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.R165W	ENST00000406403.1	37	c.493	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275160	0.80580	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.56776	0.44;0.44	4.73	4.73	0.59995	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71298	0.3323	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.74754	-0.3558	10	0.87932	D	0	-29.1343	12.4506	0.55675	0.1684:0.8316:0.0:0.0	.	165;165;89	B7Z6J7;O75175;Q6ZMJ6	.;CNOT3_HUMAN;.	W	165	ENSP00000221232:R165W;ENSP00000383954:R165W	ENSP00000221232:R165W	R	+	1	2	CNOT3	59341155	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.332000	0.59279	2.567000	0.86603	0.609000	0.83330	CGG	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5	ENSG00000088038		0.632	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	-	0	20	0	C	NM_014516		54649343	1	tier1	-	no_errors	ENST00000221232	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	54649343	C	T	54649343	3	4	77	1	0	0	0	0	1	0	0	0	3627	643	23	1	519	1	CNOT3	19	54649343	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	3326157	54649343	4479640	275	20342											
PTPRH	5794	genome.wustl.edu	37	chr19	55715273	55715273	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgtctgttgtgtttcGagtctctgttctgccaccat	3	18	10	10	1	4	0	0	0	4	0	6	1	4	0	2	1	1	3	2	1	0	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:55715273G>T	ENST00000376350.3	-	5	785	c.763C>A	c.(763-765)Cga>Aga	p.R255R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	255	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTTGTGTTTCGAGTCTCTGTT	0.552																																																	0													220	184	196					19																	55715273		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.763C>A	19.37:g.55715273G>T			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R255	ENST00000376350.3	37	c.763	CCDS33110.1	19																																																																																			PTPRH	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080031		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0	66	0	G			55715273	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.000	T	T	55715273	G	T	55715273	2	4	77	1	0	0	0	0	0	0	0	1	12848	1066	37	2		2	PTPRH	19	55715273	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	1065930	55715273	3413710	276	20343											
NLRP9	338321	genome.wustl.edu	37	chr19	56244334	56244334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttatgagttttggatgcCgcaacataaaatagtgtttt	11	16	9	5	1	0	1	0	1	0	0	0	2	0	2	1	1	2	4	1	1	5	8			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:56244334C>A	ENST00000332836.2	-	2	890	c.863G>T	c.(862-864)cGg>cTg	p.R288L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	288	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R288Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTTGGATGCCGCAACATAAA	0.383																																																	1	Substitution - Missense(1)	lung(1)											57	57	57					19																	56244334		2203	4300	6503	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.863G>T	19.37:g.56244334C>A	ENSP00000331857:p.Arg288Leu		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R288L	ENST00000332836.2	37	c.863	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	C	6.398	0.441535	0.12164	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.75477	-0.94	2.46	-4.92	0.03075	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.49541	0.1563	N	0.11560	0.145	0.09310	N	1	B	0.11235	0.004	B	0.20577	0.03	T	0.28364	-1.0046	9	0.32370	T	0.25	.	6.7229	0.23340	0.1412:0.5202:0.0:0.3386	.	288	Q7RTR0	NALP9_HUMAN	L	288	ENSP00000331857:R288L	ENSP00000331857:R288L	R	-	2	0	NLRP9	60936146	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.464000	0.06688	-1.759000	0.01313	-0.259000	0.10710	CGG	NLRP9	-	pfscan_NACHT_NTPase	ENSG00000185792		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1		0	51	0	C	NM_176820		56244334	-1			no_errors	ENST00000332836	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	A	A	56244334	C	A	56244334	3	1	77	1	0	0	0	0	1	0	0	0	10523	652	23	2	2144	2	NLRP9	19	56244334	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	529061	56244334	2884649	277	20344											
NLRP13	126204	genome.wustl.edu	37	chr19	56410155	56410155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaagtgtgtgcaatgcacGatgtggtttcagagcctcac	9	10	11	11	1	2	1	2	0	0	1	2	2	2	1	2	1	3	3	2	1	2	1	rs565649099		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:56410155G>A	ENST00000342929.3	-	10	2937	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	NLRP13_ENST00000588751.1_Missense_Mutation_p.R980C	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	980							ATP binding (GO:0005524)	p.R980C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCAATGCACGATGTGGTTTC	0.483																																																	1	Substitution - Missense(1)	endometrium(1)											180	144	156					19																	56410155		2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2938C>T	19.37:g.56410155G>A	ENSP00000343891:p.Arg980Cys		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R980C	ENST00000342929.3	37	c.2938	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.309014	0.01342	.	.	ENSG00000173572	ENST00000342929	T	0.52526	0.66	2.8	0.541	0.17168	.	.	.	.	.	T	0.07458	0.0188	N	0.00031	-2.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38178	-0.9673	9	0.02654	T	1	.	4.5712	0.12210	0.6235:0.0:0.3765:0.0	.	980	Q86W25	NAL13_HUMAN	C	980	ENSP00000343891:R980C	ENSP00000343891:R980C	R	-	1	0	NLRP13	61101967	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	1.035000	0.30216	0.058000	0.16222	-0.482000	0.04802	CGT	NLRP13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000173572		0.483	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	-	0	33	0	G	NM_176810		56410155	-1	tier1	-	no_errors	ENST00000342929	ensembl	human	known	74_37	missense	55.56	28	35	SNP	0.001	A	A	56410155	G	A	56410155	3	1	77	1	0	0	0	0	1	0	0	0	10514	1058	37	1	199	1	NLRP13	19	56410155	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	165821	56410155	2718828	278	20345											
ZNF71	58491	genome.wustl.edu	37	chr19	57133293	57133293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacacgggcgagaagcCgtatgtgtgcgacgtgtgtg	8	7	16	10	6	0	1	0	0	0	1	0	3	0	1	1	1	2	2	1	1	2	1	rs199560535		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:57133293C>A	ENST00000328070.6	+	3	872	c.638C>A	c.(637-639)cCg>cAg	p.P213Q		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGCGAGAAGCCGTATGTGTGC	0.657																																																	0													50	43	45					19																	57133293		2203	4300	6503	SO:0001583	missense	0			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"Zinc fingers, C2H2-type"	13141	protein-coding gene	gene with protein product		194545	"zinc finger protein 71 (Cos26)"			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.638C>A	19.37:g.57133293C>A	ENSP00000328245:p.Pro213Gln		Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P213Q	ENST00000328070.6	37	c.638	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579398	0.46006	.	.	ENSG00000197951	ENST00000328070	T	0.17213	2.29	3.47	2.44	0.29823	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39064	0.1064	M	0.76002	2.32	0.28917	N	0.892366	D	0.89917	1.0	D	0.91635	0.999	T	0.17410	-1.0370	9	0.87932	D	0	.	9.5694	0.39418	0.0:0.893:0.0:0.107	.	213	Q9NQZ8	ZNF71_HUMAN	Q	213	ENSP00000328245:P213Q	ENSP00000328245:P213Q	P	+	2	0	ZNF71	61825105	0.880000	0.30214	0.674000	0.29902	0.383000	0.30230	3.151000	0.50670	0.673000	0.31224	0.561000	0.74099	CCG	ZNF71	-	pfscan_Znf_C2H2	ENSG00000197951		0.657	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2		0	66	0	C	NM_021216		57133293	1			no_errors	ENST00000328070	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.975	A	A	57133293	C	A	57133293	3	1	77	1	0	0	0	0	1	0	0	0	18162	652	23	2	640	2	ZNF71	19	57133293	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	723138	57133293	1995690	279	20346											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58549514	58549514	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcagtcacagggccccCgaagctgcagggaggccgcc	7	3	17	14	2	1	0	1	0	0	0	1	2	1	1	4	4	3	3	4	4	1	0	rs376247688		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr19:58549514C>T	ENST00000282326.1	+	3	557	c.310C>T	c.(310-312)Cga>Tga	p.R104*	ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.R104*|ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.R104*	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	104	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACAGGGCCCCCGAAGCTGCAG	0.701																																																	0													11	12	12					19																	58549514		2173	4260	6433	SO:0001587	stop_gained	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.310C>T	19.37:g.58549514C>T	ENSP00000282326:p.Arg104*		Q3B798|Q6WLH8|Q86WS8	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R104*	ENST00000282326.1	37	c.310	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	C	38	6.938946	0.97948	.	.	ENSG00000152467	ENST00000391700;ENST00000282326	.	.	.	2.21	-4.41	0.03590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	6.3515	0.21379	0.1918:0.2349:0.5734:0.0	.	.	.	.	X	104	.	ENSP00000282326:R104X	R	+	1	2	ZSCAN1	63241326	0.000000	0.05858	0.000000	0.03702	0.772000	0.43724	-0.153000	0.10144	-0.700000	0.05070	0.393000	0.25936	CGA	ZSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000152467		0.701	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0	67	0	C	NM_182572		58549514	1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	nonsense	17.24	24	5	SNP	0.000	T	T	58549514	C	T	58549514	4	4	77	1	0	0	0	0	0	1	0	0	18274	644	23	1	312	1	ZSCAN1	19	58549514	Nonsense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	1416221	58549514	579469	280	20347											
TGM6	343641	genome.wustl.edu	37	chr20	2411096	2411096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctttcccttccagagaaGagaatcccaattacaatatc	13	11	5	12	0	0	2	0	0	0	2	4	4	3	2	3	0	2	1	3	0	6	4			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:2411096G>C	ENST00000202625.2	+	11	1744	c.1683G>C	c.(1681-1683)aaG>aaC	p.K561N	TGM6_ENST00000381423.1_Missense_Mutation_p.K561N	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	561					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCCAGAGAAGAGAATCCCAA	0.448																																																	0													89	86	87					20																	2411096		2203	4300	6503	SO:0001583	missense	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1683G>C	20.37:g.2411096G>C	ENSP00000202625:p.Lys561Asn		Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.K561N	ENST00000202625.2	37	c.1683	CCDS13025.1	20	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205285	0.58234	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.69435	-0.4;-0.4	5.78	2.45	0.29901	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.098340	0.64402	D	0.000002	T	0.74298	0.3698	M	0.78456	2.415	0.29470	N	0.857087	D;P	0.57257	0.979;0.954	P;P	0.57324	0.818;0.727	T	0.69480	-0.5134	10	0.51188	T	0.08	-24.9192	8.1203	0.30967	0.2059:0.0:0.7941:0.0	.	561;561	O95932-2;O95932	.;TGM3L_HUMAN	N	561	ENSP00000202625:K561N;ENSP00000370831:K561N	ENSP00000202625:K561N	K	+	3	2	TGM6	2359096	0.812000	0.29077	0.998000	0.56505	0.967000	0.64934	0.912000	0.28597	0.617000	0.30160	0.655000	0.94253	AAG	TGM6	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000166948		0.448	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0	82	0	G	NM_198994		2411096	1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	missense	18.18	54	12	SNP	0.984	C	C	2411096	G	C	2411096	3	2	77	1	0	0	0	0	1	0	0	0	15881	933	33	5	1725	5	TGM6	20	2411096	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		2411096	60614424	281	20348											
ZNF343	79175	genome.wustl.edu	37	chr20	2464928	2464928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattccttcaagcctttgtCtagctgcacagggtttggtc	7	15	9	10	0	2	0	1	0	1	0	4	0	3	0	2	2	3	3	2	2	3	6			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:2464928C>A	ENST00000278772.4	-	6	1166	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						AAGCCTTTGTCTAGCTGCACA	0.468																																																	0													112	111	111					20																	2464928		2203	4300	6503	SO:0001583	missense	0			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"Zinc fingers, C2H2-type", "-"	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.679G>T	20.37:g.2464928C>A	ENSP00000278772:p.Asp227Tyr		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D227Y	ENST00000278772.4	37	c.679	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393683	0.25205	.	.	ENSG00000088876	ENST00000278772	T	0.08634	3.07	3.21	2.15	0.27550	.	.	.	.	.	T	0.14098	0.0341	L	0.46157	1.445	0.09310	N	0.999999	D	0.57899	0.981	P	0.55667	0.781	T	0.12041	-1.0563	9	0.35671	T	0.21	.	8.5734	0.33583	0.0:0.6139:0.3861:0.0	.	227	Q6P1L6	ZN343_HUMAN	Y	227	ENSP00000278772:D227Y	ENSP00000278772:D227Y	D	-	1	0	ZNF343	2412928	0.000000	0.05858	0.037000	0.18230	0.021000	0.10359	-0.977000	0.03782	1.826000	0.53198	0.543000	0.68304	GAC	ZNF343	-	NULL	ENSG00000088876		0.468	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1	-	0	89	0	C	NM_024325		2464928	-1	tier1	-	no_errors	ENST00000278772	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.025	A	A	2464928	C	A	2464928	3	1	77	1	0	0	0	0	1	0	0	0	17906	913	32	3	1124	3	ZNF343	20	2464928	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	53832	2464928	60560592	282	20349											
PRND	23627	genome.wustl.edu	37	chr20	4705275	4705275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctctctgcggtccagacGaggggcatcaagcacagaat	11	6	11	13	2	2	2	1	0	1	2	4	3	3	2	2	3	2	2	2	3	2	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:4705275G>A	ENST00000305817.2	+	2	149	c.78G>A	c.(76-78)acG>acA	p.T26T		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	26			T -> P. {ECO:0000269|PubMed:10825657}.		protein homooligomerization (GO:0051260)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGGTCCAGACGAGGGGCATCA	0.617																																																	0													62	56	58					20																	4705275		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106918	CCDS13081.1	20p13	2013-09-19			ENSG00000171864	ENSG00000171864			15748	protein-coding gene	gene with protein product	"prion-like protein doppel"	604263				10525406, 10577243	Standard	NM_012409		Approved	DPL, dJ1068H6.4, DOPPEL, PrPLP	uc002wkz.3	Q9UKY0	OTTHUMG00000031789	ENST00000305817.2:c.78G>A	20.37:g.4705275G>A			A7U7M5|Q9H311|Q9H312|Q9NTM4	Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom	p.T26	ENST00000305817.2	37	c.78	CCDS13081.1	20																																																																																			PRND	-	pfam_Doppel	ENSG00000171864		0.617	PRND-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRND	HGNC	protein_coding	OTTHUMT00000077827.2	-	0	102	0	G	NM_012409		4705275	1	tier1	-	no_errors	ENST00000305817	ensembl	human	known	74_37	silent	13.85	56	9	SNP	0.000	A	A	4705275	G	A	4705275	2	1	77	1	0	0	0	0	0	0	0	1	12585	1045	37	1		1	PRND	20	4705275	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	2240347	4705275	58320245	283	20350											
KCNG1	3755	genome.wustl.edu	37	chr20	49621054	49621054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagtggcgcgccaggCgcatcacgtacaggatgcgc	8	4	16	13	5	1	0	1	0	0	0	1	2	1	2	2	4	2	2	2	4	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:49621054C>T	ENST00000371571.4	-	3	1349	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	355					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGCGCCAGGCGCATCACGTA	0.731																																																	0													11	16	15					20																	49621054		2155	4204	6359	SO:0001583	missense	0			AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1064G>A	20.37:g.49621054C>T	ENSP00000360626:p.Arg355His		A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R355H	ENST00000371571.4	37	c.1064	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	C	30	5.051175	0.93740	.	.	ENSG00000026559	ENST00000371571	D	0.98455	-4.94	5.18	5.18	0.71444	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99353	1.0915	9	.	.	.	.	18.7343	0.91749	0.0:1.0:0.0:0.0	.	355	Q9UIX4	KCNG1_HUMAN	H	355	ENSP00000360626:R355H	.	R	-	2	0	KCNG1	49054461	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.688000	0.84153	2.429000	0.82318	0.306000	0.20318	CGC	KCNG1	-	pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv	ENSG00000026559		0.731	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	HGNC	protein_coding	OTTHUMT00000079726.4	-	0	26	0	C	NM_002237		49621054	-1	tier1	-	no_errors	ENST00000371571	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	T	T	49621054	C	T	49621054	3	4	77	1	0	0	0	0	1	0	0	0	8054	768	27	1	481	1	KCNG1	20	49621054	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	44915779	49621054	13404466	284	20351											
CYP24A1	1591	genome.wustl.edu	37	chr20	52773967	52773967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagctctgctaatcggCgaccaatgcacattcttttt	9	14	8	10	2	2	1	0	1	2	0	3	2	2	1	1	1	3	4	1	1	3	5	rs539392099		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:52773967C>T	ENST00000216862.3	-	10	1787	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.R323H	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	465					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGCTAATCGGCGACCAATGCA	0.423													.|||	1	0.000199681	8e-04	0	5008	,	,		21347	0		0	False		,,,				2504	0																0													89	83	85					20																	52773967		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"Cytochrome P450s"	2602	protein-coding gene	gene with protein product		126065	"cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1394G>A	20.37:g.52773967C>T	ENSP00000216862:p.Arg465His		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R465H	ENST00000216862.3	37	c.1394	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	c	27.2	4.813286	0.90707	.	.	ENSG00000019186	ENST00000216862;ENST00000395954	T;T	0.70631	-0.5;-0.5	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88758	0.3255	10	0.87932	D	0	-3.7916	18.1125	0.89540	0.0:1.0:0.0:0.0	.	465;323	Q07973;Q5I2W7	CP24A_HUMAN;.	H	465;323	ENSP00000216862:R465H;ENSP00000379284:R323H	ENSP00000216862:R465H	R	-	2	0	CYP24A1	52207374	1.000000	0.71417	0.977000	0.42913	0.774000	0.43823	7.370000	0.79589	2.578000	0.87016	0.552000	0.68991	CGC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000019186		0.423	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0	42	0	C			52773967	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	16.38	97	19	SNP	1.000	T	T	52773967	C	T	52773967	3	4	77	1	0	0	0	0	1	0	0	0	4163	768	27	1	158	1	CYP24A1	20	52773967	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	3152913	52773967	10251553	285	20352											
ZNF831	128611	genome.wustl.edu	37	chr20	57767371	57767371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcggccccggaagaccGggctgtccaaacagggcagc	9	3	15	14	4	0	1	0	0	0	1	1	2	1	2	4	4	3	2	4	4	2	0	rs200797810		TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:57767371G>A	ENST00000371030.2	+	1	1297	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	433							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGGAAGACCGGGCTGTCCAA	0.657																																																	0								G	ARG/GLY	1,4117		0,1,2058	24	31	29		1297	3.3	0.1	20		29	0,8360		0,0,4180	yes	missense	ZNF831	NM_178457.1	125	0,1,6238	AA,AG,GG		0.0,0.0243,0.0080	possibly-damaging	433/1678	57767371	1,12477	2059	4180	6239	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1297G>A	20.37:g.57767371G>A	ENSP00000360069:p.Gly433Arg		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G433R	ENST00000371030.2	37	c.1297	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825086	0.32237	2.43E-4	0.0	ENSG00000124203	ENST00000371030	T	0.11385	2.78	5.54	3.35	0.38373	.	.	.	.	.	T	0.04407	0.0121	N	0.08118	0	0.09310	N	1	P	0.44986	0.847	B	0.31442	0.13	T	0.30621	-0.9972	9	0.48119	T	0.1	-8.4679	8.3622	0.32365	0.1069:0.0:0.7354:0.1577	.	433	Q5JPB2	ZN831_HUMAN	R	433	ENSP00000360069:G433R	ENSP00000360069:G433R	G	+	1	0	ZNF831	57200766	0.519000	0.26242	0.101000	0.21167	0.987000	0.75469	2.312000	0.43726	1.312000	0.45043	0.655000	0.94253	GGG	ZNF831	-	NULL	ENSG00000124203		0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	63	0	G	NM_178457		57767371	1	tier1	rs200797810	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	13.84	137	22	SNP	0.002	A	A	57767371	G	A	57767371	3	1	77	1	0	0	0	0	1	0	0	0	18233	1116	39	1	1299	1	ZNF831	20	57767371	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	4993404	57767371	5258149	286	20353											
DIDO1	11083	genome.wustl.edu	37	chr20	61511724	61511724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgggggcgcccgtcacctCgttatacggggcgtcctgga	4	7	17	13	6	1	0	1	0	0	0	3	1	2	1	3	6	1	1	3	6	2	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:61511724C>T	ENST00000266070.4	-	16	5909	c.5584G>A	c.(5584-5586)Gag>Aag	p.E1862K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1862K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1862	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCGTCACCTCGTTATACGGG	0.612																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													49	53	52					20																	61511724		2203	4294	6497	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5584G>A	20.37:g.61511724C>T	ENSP00000266070:p.Glu1862Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E1862K	ENST00000266070.4	37	c.5584	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	12.39	1.922825	0.33908	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10573	2.86;2.86	4.97	4.97	0.65823	.	0.515327	0.15936	N	0.237401	T	0.11537	0.0281	L	0.51422	1.61	0.58432	D	0.999998	P	0.43352	0.804	B	0.31101	0.124	T	0.16541	-1.0399	10	0.44086	T	0.13	-9.1922	18.217	0.89889	0.0:1.0:0.0:0.0	.	1862	Q9BTC0	DIDO1_HUMAN	K	1862	ENSP00000266070:E1862K;ENSP00000378752:E1862K	ENSP00000266070:E1862K	E	-	1	0	DIDO1	60982169	0.979000	0.34478	0.010000	0.14722	0.109000	0.19521	5.236000	0.65354	2.270000	0.75569	0.561000	0.74099	GAG	DIDO1	-	NULL	ENSG00000101191		0.612	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	114	0	C	NM_080796		61511724	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.045	T	T	61511724	C	T	61511724	3	4	77	1	0	0	0	0	1	0	0	0	4536	893	31	1	1142	1	DIDO1	20	61511724	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	3744353	61511724	1513796	287	20354											
SLC17A9	63910	genome.wustl.edu	37	chr20	61588799	61588799	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcttccctccaggattggGggtgagaaggtcatcctgct	6	12	13	10	0	2	1	1	1	1	1	5	3	5	2	3	4	1	1	3	4	1	2			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:61588799G>T	ENST00000370351.4	+	3	395	c.264G>T	c.(262-264)ggG>ggT	p.G88G	SLC17A9_ENST00000370349.3_Silent_p.G82G|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	88					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCAGGATTGGGGGTGAGAAGG	0.642																																																	0													73	81	78					20																	61588799		2177	4260	6437	SO:0001819	synonymous_variant	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.264G>T	20.37:g.61588799G>T			B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G88	ENST00000370351.4	37	c.264	CCDS42901.1	20																																																																																			SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.642	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	-	0	19	0	G	NM_022082		61588799	1	tier1	-	no_errors	ENST00000370351	ensembl	human	known	74_37	silent	50.00	12	12	SNP	0.983	T	T	61588799	G	T	61588799	2	4	77	1	0	0	0	0	0	0	0	1	14469	1219	43	3		3	SLC17A9	20	61588799	Silent	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	77075	61588799	1436721	288	20355											
SLC17A9	63910	genome.wustl.edu	37	chr20	61588815	61588815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggtgagaaggtcatcCtgctgtcagcctctgcctgg	5	11	15	10	0	3	1	2	1	1	1	4	2	4	1	3	4	3	1	3	4	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr20:61588815C>G	ENST00000370351.4	+	3	411	c.280C>G	c.(280-282)Ctg>Gtg	p.L94V	SLC17A9_ENST00000370349.3_Missense_Mutation_p.L88V|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	94					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAAGGTCATCCTGCTGTCAGC	0.637																																																	0													77	85	82					20																	61588815		2177	4257	6434	SO:0001583	missense	0			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"Solute carriers"	16192	protein-coding gene	gene with protein product		612107	"chromosome 20 open reading frame 59", "solute carrier family 17, member 9"	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.280C>G	20.37:g.61588815C>G	ENSP00000359376:p.Leu94Val		B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L94V	ENST00000370351.4	37	c.280	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	C	9.518	1.107411	0.20714	.	.	ENSG00000101194	ENST00000370351;ENST00000370349;ENST00000411611	T;T;T	0.59502	0.26;0.26;0.26	4.57	-2.47	0.06442	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.294682	0.32608	N	0.005867	T	0.43986	0.1272	M	0.65975	2.015	0.49582	D	0.999806	B;B;B	0.12630	0.006;0.002;0.006	B;B;B	0.21151	0.033;0.021;0.012	T	0.09250	-1.0683	10	0.31617	T	0.26	.	1.7721	0.03014	0.1265:0.3771:0.1235:0.373	.	114;94;88	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	V	94;88;114	ENSP00000359376:L94V;ENSP00000359374:L88V;ENSP00000388215:L114V	ENSP00000359374:L88V	L	+	1	2	SLC17A9	61059260	0.934000	0.31675	0.970000	0.41538	0.516000	0.34256	0.124000	0.15728	-0.505000	0.06568	-2.070000	0.00385	CTG	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000101194		0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	-	0	20	0	C	NM_022082		61588815	1	tier1	-	no_errors	ENST00000370351	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.994	G	G	61588815	C	G	61588815	3	3	77	1	0	0	0	0	1	0	0	0	14469	680	24	5	290	5	SLC17A9	20	61588815	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	16	61588815	1436705	289	20356											
PHF21B	112885	genome.wustl.edu	37	chr22	45279122	45279122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaggagggcccgcaggcgGtccagggatgactgggtgcc	6	5	18	12	2	1	1	1	1	0	0	2	3	2	3	3	6	1	1	3	6	0	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr22:45279122G>T	ENST00000313237.5	-	13	1590	c.1440C>A	c.(1438-1440)gaC>gaA	p.D480E	PHF21B_ENST00000404079.2_Missense_Mutation_p.D426E|PHF21B_ENST00000403565.1_Missense_Mutation_p.D276E|PHF21B_ENST00000396103.3_Missense_Mutation_p.D438E	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	480							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCCGCAGGCGGTCCAGGGATG	0.637																																																	0													50	58	55					22																	45279122		2203	4300	6503	SO:0001583	missense	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.1440C>A	22.37:g.45279122G>T	ENSP00000324403:p.Asp480Glu		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D480E	ENST00000313237.5	37	c.1440	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	g	6.607	0.480407	0.12581	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079	D;T;T;T	0.84873	-1.91;-1.34;-1.32;-1.32	3.49	1.05	0.20165	.	0.172012	0.36101	U	0.002800	T	0.61961	0.2389	N	0.05534	-0.03	0.80722	D	1	B;B;B;B	0.14805	0.011;0.007;0.007;0.005	B;B;B;B	0.17433	0.018;0.008;0.008;0.003	T	0.53704	-0.8401	10	0.05436	T	0.98	-18.1793	6.3255	0.21240	0.0:0.4138:0.2957:0.2905	.	438;426;480;276	Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;PF21B_HUMAN;.	E	276;480;438;426	ENSP00000385053:D276E;ENSP00000324403:D480E;ENSP00000379410:D438E;ENSP00000385105:D426E	ENSP00000324403:D480E	D	-	3	2	PHF21B	43657786	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.730000	0.26043	0.634000	0.30469	0.299000	0.19835	GAC	PHF21B	-	NULL	ENSG00000056487		0.637	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0	65	0	G	NM_138415		45279122	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	40.32	37	25	SNP	0.997	T	T	45279122	G	T	45279122	3	4	77	1	0	0	0	0	1	0	0	0	11873	1252	44	3	159	3	PHF21B	22	45279122	Missense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09		45279122	6025444	290	20357											
BRD1	23774	genome.wustl.edu	37	chr22	50192241	50192241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcgcaaatatcctggCggggtccttgtcttgcagct	5	11	14	11	2	1	0	0	0	1	0	3	0	3	0	2	4	3	4	2	4	2	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chr22:50192241C>T	ENST00000216267.8	-	4	2236	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	BRD1_ENST00000404034.1_Missense_Mutation_p.A584T|BRD1_ENST00000342989.5_Missense_Mutation_p.A179T|BRD1_ENST00000404760.1_Missense_Mutation_p.A584T|BRD1_ENST00000457780.2_Missense_Mutation_p.A584T|BRD1_ENST00000542442.1_Missense_Mutation_p.A277T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	584	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AATATCCTGGCGGGGTCCTTG	0.632																																																	0													77	68	71					22																	50192241		2203	4300	6503	SO:0001583	missense	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"BR140-like"	604589	"bromodomain-containing 1"			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1750G>A	22.37:g.50192241C>T	ENSP00000216267:p.Ala584Thr		A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.A584T	ENST00000216267.8	37	c.1750	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123083	0.77436	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	4.96	4.96	0.65561	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.60077	0.2241	M	0.78344	2.41	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;P;D;D	0.76575	0.988;0.905;0.968;0.98	T	0.57435	-0.7812	10	0.16896	T	0.51	.	18.196	0.89822	0.0:1.0:0.0:0.0	.	584;179;584;584	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	T	584;584;584;584;277;179;44	ENSP00000216267:A584T;ENSP00000384076:A584T;ENSP00000385858:A584T;ENSP00000410042:A584T;ENSP00000437514:A277T;ENSP00000345886:A179T	ENSP00000216267:A584T	A	-	1	0	BRD1	48578245	0.997000	0.39634	0.967000	0.41034	0.840000	0.47671	3.754000	0.55189	2.316000	0.78162	0.655000	0.94253	GCC	BRD1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000100425		0.632	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	-	0	78	0	C	NM_014577		50192241	-1	tier1	-	no_errors	ENST00000216267	ensembl	human	known	74_37	missense	12.37	85	12	SNP	1.000	T	T	50192241	C	T	50192241	3	4	77	1	0	0	0	0	1	0	0	0	1505	768	27	1	1462	1	BRD1	22	50192241	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	4913119	50192241	1112325	291	20358											
DMD	1756	genome.wustl.edu	37	chrX	32536193	32536193	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaaattcaggactctgcaAcacagcttctgagcgagtaa	13	9	9	10	1	3	1	1	1	2	0	3	3	3	2	0	1	5	4	0	1	3	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:32536193A>G	ENST00000357033.4	-	18	2430	c.2224T>C	c.(2224-2226)Ttg>Ctg	p.L742L	DMD_ENST00000288447.4_Silent_p.L734L|DMD_ENST00000378677.2_Silent_p.L738L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	742					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGACTCTGCAACACAGCTTCT	0.343																																																	0													64	58	60					X																	32536193		2201	4300	6501	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2224T>C	X.37:g.32536193A>G			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L742	ENST00000357033.4	37	c.2224	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	85	0	A	NM_004006		32536193	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	23.81	48	15	SNP	0.970	G	G	32536193	A	G	32536193	2	3	77	1	0	0	0	0	0	0	0	1	4594	40	2	4		4	DMD	23	32536193	Silent	SNP	A	TCGA-L5-A891-01A-11D-A36J-09		32536193	122734367	292	20359											
DMD	1756	genome.wustl.edu	37	chrX	32834620	32834620	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcattcaaagccaggccAtcagaccagctggtggtgaa	13	6	12	10	0	2	3	2	1	0	2	2	3	2	3	3	3	3	2	3	3	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:32834620A>T	ENST00000357033.4	-	6	701	c.495T>A	c.(493-495)gaT>gaA	p.D165E	DMD_ENST00000288447.4_Missense_Mutation_p.D157E|DMD_ENST00000378677.2_Missense_Mutation_p.D161E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	165	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.		D -> V (in one patient with Becker muscular dystrophy). {ECO:0000269|PubMed:12632325}.		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGCCAGGCCATCAGACCAGC	0.393																																																	0													143	122	129					X																	32834620		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.495T>A	X.37:g.32834620A>T	ENSP00000354923:p.Asp165Glu		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.D165E	ENST00000357033.4	37	c.495	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088044	0.76642	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	D;D;D	0.97959	-4.63;-4.63;-4.63	5.51	3.03	0.35002	Calponin homology domain (5);	0.000000	0.38111	U	0.001801	D	0.99061	0.9678	H	0.97962	4.115	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.993;0.998	D;D;D;D;D	0.76575	0.979;0.988;0.979;0.987;0.988	D	0.98177	1.0455	10	0.87932	D	0	.	9.4664	0.38816	0.8522:0.0:0.1478:0.0	.	165;157;157;165;161	F5H6K1;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	E	157;161;165;165;42;157	ENSP00000367948:D161E;ENSP00000354923:D165E;ENSP00000288447:D157E	ENSP00000288447:D157E	D	-	3	2	DMD	32744541	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.152000	0.31663	0.215000	0.20761	0.486000	0.48141	GAT	DMD	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain	ENSG00000198947		0.393	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	53	0	A	NM_004006		32834620	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	32834620	A	T	32834620	3	4	77	1	0	0	0	0	1	0	0	0	4594	214	8	5	11101	5	DMD	23	32834620	Missense_Mutation	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	298427	32834620	122435940	293	20360											
USP9X	8239	genome.wustl.edu	37	chrX	41007638	41007638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggccagttggacaaatgCgagtaaaaagcaacgtgaaa	17	6	11	7	2	0	1	0	1	0	0	0	3	0	2	1	2	3	3	1	2	7	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:41007638C>T	ENST00000324545.8	+	12	2069	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	USP9X_ENST00000378308.2_Missense_Mutation_p.A479V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	479					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGACAAATGCGAGTAAAAAG	0.373																																					Ovarian(172;1807 2695 35459 49286)												0													134	121	126					X																	41007638		2203	4300	6503	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1436C>T	X.37:g.41007638C>T	ENSP00000316357:p.Ala479Val		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.A479V	ENST00000324545.8	37	c.1436	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.166181	0.94768	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.67523	-0.27;-0.27	5.53	5.53	0.82687	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.80613	0.4656	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.78018	-0.2368	10	0.30854	T	0.27	.	18.5443	0.91040	0.0:1.0:0.0:0.0	.	479;479	Q93008-1;Q93008	.;USP9X_HUMAN	V	479	ENSP00000367558:A479V;ENSP00000316357:A479V	ENSP00000316357:A479V	A	+	2	0	USP9X	40892582	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.322000	0.78497	0.538000	0.68166	GCG	USP9X	-	superfamily_ARM-type_fold	ENSG00000124486		0.373	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0	64	0	C	NM_004652		41007638	1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	missense	47.06	26	24	SNP	1.000	T	T	41007638	C	T	41007638	3	4	77	1	0	0	0	0	1	0	0	0	17139	768	27	1	1478	1	USP9X	23	41007638	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	8173018	41007638	114262922	294	20361											
MAOA	4128	genome.wustl.edu	37	chrX	43587477	43587477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgacctctgagcctcaCgaagtgtctgccctgtggtt	7	12	11	11	1	3	2	1	2	2	0	3	3	3	2	3	1	2	1	3	1	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:43587477C>G	ENST00000338702.3	+	6	684	c.561C>G	c.(559-561)caC>caG	p.H187Q	MAOA_ENST00000542639.1_Missense_Mutation_p.H54Q|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	187					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTGAGCCTCACGAAGTGTCTG	0.478																																																	0													241	188	206					X																	43587477		2203	4300	6503	SO:0001583	missense	0				CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.561C>G	X.37:g.43587477C>G	ENSP00000340684:p.His187Gln		B4DF46|Q16426	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase	p.H187Q	ENST00000338702.3	37	c.561	CCDS14260.1	X	.	.	.	.	.	.	.	.	.	.	C	9.771	1.172643	0.21704	.	.	ENSG00000189221	ENST00000338702;ENST00000542639	D;D	0.92048	-2.96;-2.96	5.58	-5.09	0.02920	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.88847	0.6548	L	0.53780	1.695	0.58432	D	0.999996	B	0.32365	0.367	B	0.38712	0.28	T	0.77247	-0.2658	10	0.42905	T	0.14	.	14.5217	0.67853	0.0:0.4254:0.0:0.5746	.	187	P21397	AOFA_HUMAN	Q	187;54	ENSP00000340684:H187Q;ENSP00000440846:H54Q	ENSP00000340684:H187Q	H	+	3	2	MAOA	43472421	0.056000	0.20664	0.533000	0.28001	0.132000	0.20833	-0.749000	0.04813	-1.141000	0.02873	-1.131000	0.01979	CAC	MAOA	-	pfam_Amino_oxidase,prints_Flavin_amine_oxidase	ENSG00000189221		0.478	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOA	HGNC	protein_coding	OTTHUMT00000056300.1	-	0	29	0	C	NM_000240		43587477	1	tier1	-	no_errors	ENST00000338702	ensembl	human	known	74_37	missense	53.70	25	29	SNP	0.827	G	G	43587477	C	G	43587477	3	3	77	1	0	0	0	0	1	0	0	0	9263	535	19	5	583	5	MAOA	23	43587477	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	2579839	43587477	111683083	295	20362											
HUWE1	10075	genome.wustl.edu	37	chrX	53576031	53576031	+	Frame_Shift_Del	DEL	C	C	-																															tgcttctcggtatgtttacgCccccctgaacgctggatctg																										TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:53576031delC	ENST00000342160.3	-	66	10381	c.9924delG	c.(9922-9924)gggfs	p.G3308fs	HUWE1_ENST00000262854.6_Frame_Shift_Del_p.G3308fs|HUWE1_ENST00000474288.1_5'Flank			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3308					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATGTTTACGCCCCCCTGAAC	0.527																																																	0													96	70	79					X																	53576031		2203	4300	6503	SO:0001589	frameshift_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9924delG	X.37:g.53576031delC	ENSP00000340648:p.Gly3308fs		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Del	DEL	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R3309fs	ENST00000342160.3	37	c.9924	CCDS35301.1	X																																																																																			HUWE1	-	NULL	ENSG00000086758		0.527	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1		0	21	0	C	XM_497119		53576031	-1	tier1		no_errors	ENST00000262854	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.001	-	-	53576031	C	-	53576031	7	5	77	1	0	1	0	1	0	0	0	0	7488	726	26	0	3272	0	HUWE1	23	53576031	Frame_Shift_Del	DEL	C	TCGA-L5-A891-01A-11D-A36J-09	9988554	53576031	101694529	296	20363											
FGD1	2245	genome.wustl.edu	37	chrX	54482155	54482155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatcaatgcgtgcccgCacgctaaacttctggccaag	10	9	8	14	3	3	0	1	0	2	0	3	0	3	0	2	1	4	2	2	1	5	3			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:54482155C>T	ENST00000375135.3	-	11	2638	c.1905G>A	c.(1903-1905)gtG>gtA	p.V635V		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	635	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGCGTGCCCGCACGCTAAACT	0.542																																																	0													61	54	56					X																	54482155		2199	4295	6494	SO:0001819	synonymous_variant	0			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3663	protein-coding gene	gene with protein product		300546	"faciogenital dysplasia (Aarskog-Scott syndrome)"	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1905G>A	X.37:g.54482155C>T			Q5H999|Q8N4D9	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.V635	ENST00000375135.3	37	c.1905	CCDS14359.1	X																																																																																			FGD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000102302		0.542	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	HGNC	protein_coding	OTTHUMT00000056801.1	-	0	28	0	C	NM_004463		54482155	-1	tier1	-	no_errors	ENST00000375135	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.984	T	T	54482155	C	T	54482155	2	4	77	1	0	0	0	0	0	0	0	1	5854	697	25	3		3	FGD1	23	54482155	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	906124	54482155	100788405	297	20364											
KIAA2022	340533	genome.wustl.edu	37	chrX	73963510	73963510	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattcatcatcatcaaacatGtagttatccacatcttcttc	12	15	3	11	0	6	0	4	0	2	0	8	1	7	0	1	0	1	2	1	0	3	5			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:73963510G>C	ENST00000055682.6	-	3	1493	c.882C>G	c.(880-882)taC>taG	p.Y294*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	294					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATCAAACATGTAGTTATCCA	0.383																																																	0													120	104	109					X																	73963510		2203	4300	6503	SO:0001587	stop_gained	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.882C>G	X.37:g.73963510G>C	ENSP00000055682:p.Tyr294*		A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	NULL	p.Y294*	ENST00000055682.6	37	c.882	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	G	39	7.892277	0.98545	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.83	0.407	0.16371	.	0.144538	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3617	11.3508	0.49587	0.371:0.0:0.629:0.0	.	.	.	.	X	294	.	ENSP00000055682:Y294X	Y	-	3	2	KIAA2022	73880235	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	0.457000	0.21875	-0.008000	0.14320	-0.190000	0.12839	TAC	KIAA2022	-	NULL	ENSG00000050030		0.383	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2		0	18	0	G	NM_001008537		73963510	-1			no_errors	ENST00000055682	ensembl	human	known	74_37	nonsense	12.90	27	4	SNP	1.000	C	C	73963510	G	C	73963510	4	2	77	1	0	0	0	0	0	1	0	0	8296	1372	48	5	3676	5	KIAA2022	23	73963510	Nonsense_Mutation	SNP	G	TCGA-L5-A891-01A-11D-A36J-09	19481355	73963510	81307050	298	20365											
TGIF2LX	90316	genome.wustl.edu	37	chrX	89177107	89177107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccgctgcggacggccCggctgagacccaaagcccgg	7	2	17	15	5	0	1	0	1	0	1	0	4	0	3	4	6	2	2	4	6	1	0			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:89177107C>T	ENST00000561129.2	+	1	153	c.23C>T	c.(22-24)cCg>cTg	p.P8L	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P8L			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCGGACGGCCCGGCTGAGACC	0.532																																																	0													43	51	49					X																	89177107		2201	4300	6501	SO:0001583	missense	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"Homeoboxes / TALE class"	18570	protein-coding gene	gene with protein product		300411	"TGFB-induced factor 2-like, X-linked"				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.23C>T	X.37:g.89177107C>T	ENSP00000453704:p.Pro8Leu		Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P8L	ENST00000561129.2	37	c.23	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	C	8.679	0.904709	0.17760	.	.	ENSG00000153779	ENST00000283891	T	0.72282	-0.64	2.2	1.33	0.21861	.	.	.	.	.	T	0.50120	0.1597	L	0.38175	1.15	0.09310	N	1	P	0.35551	0.509	B	0.24006	0.05	T	0.30822	-0.9965	8	.	.	.	.	4.2684	0.10775	0.0:0.7904:0.0:0.2096	.	8	Q8IUE1	TF2LX_HUMAN	L	8	ENSP00000355119:P8L	.	P	+	2	0	TGIF2LX	89063763	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.345000	0.19979	0.386000	0.24997	0.513000	0.50165	CCG	TGIF2LX	-	NULL	ENSG00000153779		0.532	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	-	0	91	0	C	NM_138960		89177107	1	tier1	-	no_errors	ENST00000283891	ensembl	human	known	74_37	missense	86.02	13	80	SNP	0.000	T	T	89177107	C	T	89177107	3	4	77	1	0	0	0	0	1	0	0	0	15874	652	23	1	25	1	TGIF2LX	23	89177107	Missense_Mutation	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	15213597	89177107	66093453	299	20366											
CSTF2	1478	genome.wustl.edu	37	chrX	100088347	100088347	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccgagggatggaggcCagaggcatggataccagagg	12	4	18	7	1	0	2	0	0	0	2	1	7	1	5	3	6	1	1	3	6	2	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:100088347C>G	ENST00000372972.2	+	11	1402	c.1386C>G	c.(1384-1386)gcC>gcG	p.A462A	CSTF2_ENST00000415585.2_Silent_p.A482A	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	462	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGATGGAGGCCAGAGGCATGG	0.622																																																	0													44	37	39					X																	100088347		2202	4300	6502	SO:0001819	synonymous_variant	0			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1386C>G	X.37:g.100088347C>G			Q5H951|Q6LA74|Q8N502	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A482	ENST00000372972.2	37	c.1446	CCDS14473.1	X																																																																																			CSTF2	-	NULL	ENSG00000101811		0.622	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	-	0	83	0	C	NM_001325		100088347	1	tier1	-	no_errors	ENST00000415585	ensembl	human	known	74_37	silent	40.96	49	34	SNP	0.998	G	G	100088347	C	G	100088347	2	3	77	1	0	0	0	0	0	0	0	1	3993	581	21	5		5	CSTF2	23	100088347	Silent	SNP	C	TCGA-L5-A891-01A-11D-A36J-09	10911240	100088347	55182213	300	20367											
DNASE1L1	1774	genome.wustl.edu	37	chrX	153631069	153631069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagcagggcacagctgAggggacaggagtgatagcag	12	3	18	8	0	0	2	0	2	0	0	0	4	0	4	0	5	3	5	0	5	1	1			TCGA-L5-A891-01A-11D-A36J-09	TCGA-L5-A891-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	207ea57e-655d-4008-81e3-27fa7b2b1ff6	b224c840-9566-4aa5-9f0d-7386909da464	g.chrX:153631069A>G	ENST00000393638.1	-	8	1174	c.888T>C	c.(886-888)ccT>ccC	p.P296P	DNASE1L1_ENST00000369809.1_Silent_p.P296P|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	296					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCACAGCTGAGGGGACAGGA	0.652																																																	0													65	51	56					X																	153631069		2202	4299	6501	SO:0001819	synonymous_variant	0			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.888T>C	X.37:g.153631069A>G			D3DWW7|Q5HY41	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.P296	ENST00000393638.1	37	c.888	CCDS14747.1	X																																																																																			DNASE1L1	-	NULL	ENSG00000013563		0.652	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	-	0	52	0	A			153631069	-1	tier1	-	no_errors	ENST00000014935	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.000	G	G	153631069	A	G	153631069	2	3	77	1	0	0	0	0	0	0	0	1	4675	291	11	4		4	DNASE1L1	23	153631069	Silent	SNP	A	TCGA-L5-A891-01A-11D-A36J-09	53542722	153631069	1639491	301	20368											
KLHL17	339451	genome.wustl.edu	37	chr1	897049	897049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacccacgtgacgctgcaCgacatcgaccctcaggcctt	9	6	9	17	4	1	2	1	1	0	1	2	4	1	2	3	1	1	2	3	1	0	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:897049C>T	ENST00000338591.3	+	3	515	c.408C>T	c.(406-408)caC>caT	p.H136H	NOC2L_ENST00000327044.6_5'Flank|NOC2L_ENST00000487214.1_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	136	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGACGCTGCACGACATCGACC	0.667																																																	0													97	90	92					1																	897049		2200	4298	6498	SO:0001819	synonymous_variant	0			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"Kelch-like", "BTB/POZ domain containing"	24023	protein-coding gene	gene with protein product	"actinfilin"		"kelch-like 17 (Drosophila)"			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.408C>T	1.37:g.897049C>T			Q5SV94	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H136	ENST00000338591.3	37	c.408	CCDS30550.1	1																																																																																			KLHL17	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000187961		0.667	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3		0	14	0	C	NM_198317		897049	1			no_errors	ENST00000338591	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.917	T	T	897049	C	T	897049	2	4	78	1	0	0	0	0	0	0	0	1	8399	535	19	1		1	KLHL17	1	897049	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09		897049	248353572	1	20369											
SKI	6497	genome.wustl.edu	37	chr1	2235375	2235375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcagccctccgtgtgcCgccgccgtctcccgggcccc	2	6	13	20	5	1	1	0	1	1	0	3	1	2	1	8	1	3	1	8	1	0	0	rs139034124	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:2235375C>T	ENST00000378536.4	+	4	1380	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	436					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CTCCGTGTGCCGCCGCCGTCT	0.692													C|||	6	0.00119808	0.0045	0	5008	,	,		10711	0		0	False		,,,				2504	0				Ovarian(177;144 1678 13697 20086 27838 40755)												0								C		5,4365		0,5,2180	11	15	14		1308	2.2	0	1	dbSNP_134	14	2,8542		0,2,4270	no	coding-synonymous	SKI	NM_003036.3		0,7,6450	TT,TC,CC		0.0234,0.1144,0.0542		436/729	2235375	7,12907	2185	4272	6457	SO:0001819	synonymous_variant	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1308C>T	1.37:g.2235375C>T			Q5SYT7	Silent	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.A436	ENST00000378536.4	37	c.1308	CCDS39.1	1																																																																																			SKI	-	NULL	ENSG00000157933		0.692	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	-	0	49	0	C	NM_003036		2235375	1	tier1	rs139034124	no_errors	ENST00000378536	ensembl	human	known	74_37	silent	35.00	26	14	SNP	0.134	T	T	2235375	C	T	2235375	2	4	78	1	0	0	0	0	0	0	0	1	14402	639	23	1		1	SKI	1	2235375	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	1338326	2235375	247015246	2	20370											
ERRFI1	54206	genome.wustl.edu	37	chr1	8074382	8074382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggggaataagaagaggggGcaagctggacttttgagatg	12	8	18	3	0	0	3	0	1	0	3	0	6	0	5	0	5	1	2	0	5	4	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:8074382G>A	ENST00000377482.5	-	4	500	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_Missense_Mutation_p.A67V	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	93					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AGAAGAGGGGGCAAGCTGGAC	0.443																																																	0													132	137	135					1																	8074382		2202	4300	6502	SO:0001583	missense	0			BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.277C>T	1.37:g.8074382G>A	ENSP00000366702:p.Pro93Ser		B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6	p.P93S	ENST00000377482.5	37	c.277	CCDS94.1	1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.605759	0.28623	.	.	ENSG00000116285	ENST00000377482	T	0.73469	-0.75	5.46	4.54	0.55810	.	0.322563	0.32736	N	0.005705	T	0.64649	0.2617	L	0.33485	1.01	0.25465	N	0.987887	P	0.35745	0.518	B	0.37650	0.255	T	0.52931	-0.8509	10	0.14252	T	0.57	1.3225	15.1819	0.72965	0.0:0.1501:0.8499:0.0	.	93	Q9UJM3	ERRFI_HUMAN	S	93	ENSP00000366702:P93S	ENSP00000366702:P93S	P	-	1	0	ERRFI1	7996969	1.000000	0.71417	0.878000	0.34440	0.219000	0.24729	2.813000	0.48002	1.271000	0.44313	0.655000	0.94253	CCC	ERRFI1	-	NULL	ENSG00000116285		0.443	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERRFI1	HGNC	protein_coding	OTTHUMT00000003617.1	-	0	73	0	G	NM_018948		8074382	-1	tier1	-	no_errors	ENST00000377482	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.997	A	A	8074382	G	A	8074382	3	1	78	1	0	0	0	0	1	0	0	0	5260	1203	42	3	1115	3	ERRFI1	1	8074382	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5839007	8074382	241176239	3	20371											
RERE	473	genome.wustl.edu	37	chr1	8421866	8421866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcctgtcagcctcctccGtatcagaggccaccttctcc	5	11	8	17	1	3	1	2	0	1	1	7	1	6	1	7	2	1	1	7	2	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:8421866G>T	ENST00000337907.3	-	18	2607	c.1973C>A	c.(1972-1974)aCg>aAg	p.T658K	RERE_ENST00000476556.1_Missense_Mutation_p.T104K|RERE_ENST00000400908.2_Missense_Mutation_p.T658K|RERE_ENST00000377464.1_Missense_Mutation_p.T390K|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	658					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCCTCCTCCGTATCAGAGGC	0.537																																																	0													97	94	95					1																	8421866		2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1973C>A	1.37:g.8421866G>T	ENSP00000338629:p.Thr658Lys		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.T658K	ENST00000337907.3	37	c.1973	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785262	0.90282	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T;T	0.61158	0.13;3.46;1.87;0.13	5.44	5.44	0.79542	.	.	.	.	.	T	0.56819	0.2011	L	0.51422	1.61	0.54753	D	0.99998	P;B	0.37781	0.608;0.192	B;B	0.43155	0.41;0.158	T	0.50849	-0.8779	9	0.09338	T	0.73	-17.3289	18.2489	0.89996	0.0:0.0:1.0:0.0	.	390;658	B1AKN3;Q9P2R6	.;RERE_HUMAN	K	658;390;104;658;78	ENSP00000338629:T658K;ENSP00000366684:T390K;ENSP00000422246:T104K;ENSP00000383700:T658K	ENSP00000338629:T658K	T	-	2	0	RERE	8344453	1.000000	0.71417	0.527000	0.27925	0.934000	0.57294	7.810000	0.86072	2.576000	0.86940	0.561000	0.74099	ACG	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.537	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1		0	52	0	G			8421866	-1			no_errors	ENST00000337907	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.992	T	T	8421866	G	T	8421866	3	4	78	1	0	0	0	0	1	0	0	0	13276	1145	40	2	2755	2	RERE	1	8421866	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	347484	8421866	240828755	4	20372											
CASZ1	54897	genome.wustl.edu	37	chr1	10713952	10713952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcaacaaggtcgtcgttgCtggactcctcgtgctccgtg	6	11	12	12	4	1	0	1	0	0	0	6	1	3	1	2	2	3	3	2	2	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10713952C>A	ENST00000377022.3	-	11	2479	c.2162G>T	c.(2161-2163)aGc>aTc	p.S721I	CASZ1_ENST00000344008.5_Missense_Mutation_p.S721I|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	721					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCGTCGTTGCTGGACTCCTC	0.687																																																	0													57	58	58					1																	10713952		2203	4300	6503	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.2162G>T	1.37:g.10713952C>A	ENSP00000366221:p.Ser721Ile		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S721I	ENST00000377022.3	37	c.2162	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826810	0.90955	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.7	4.7	0.59300	.	0.156269	0.64402	D	0.000001	T	0.75503	0.3858	L	0.51422	1.61	0.58432	D	0.999991	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.996;0.982	T	0.77443	-0.2586	9	0.62326	D	0.03	-33.8103	18.5325	0.90997	0.0:1.0:0.0:0.0	.	745;721;721	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	721	.	ENSP00000339445:S721I	S	-	2	0	CASZ1	10636539	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.624000	0.67764	2.551000	0.86045	0.561000	0.74099	AGC	CASZ1	-	NULL	ENSG00000130940		0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0	18	0	C	NM_017766		10713952	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A	A	10713952	C	A	10713952	3	1	78	1	0	0	0	0	1	0	0	0	2692	797	28	3	3165	3	CASZ1	1	10713952	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2292086	10713952	238536669	5	20373											
CASZ1	54897	genome.wustl.edu	37	chr1	10715741	10715741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgctcttcccattgaGgtggcagccgtggtagtaga	6	11	16	8	1	1	2	0	1	1	1	2	2	2	2	2	4	2	4	2	4	2	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10715741G>T	ENST00000377022.3	-	9	1947	c.1630C>A	c.(1630-1632)Ctc>Atc	p.L544I	CASZ1_ENST00000344008.5_Missense_Mutation_p.L544I|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	544					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCCATTGAGGTGGCAGCCG	0.642																																																	0													137	98	111					1																	10715741		2203	4299	6502	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1630C>A	1.37:g.10715741G>T	ENSP00000366221:p.Leu544Ile		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L544I	ENST00000377022.3	37	c.1630	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.148435	0.94603	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.32	4.32	0.51571	.	0.123230	0.56097	D	0.000029	T	0.65037	0.2653	N	0.22421	0.69	0.50313	D	0.999863	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.87578	0.993;0.998;0.992	T	0.70781	-0.4779	9	0.66056	D	0.02	-32.5081	17.7234	0.88358	0.0:0.0:1.0:0.0	.	568;544;544	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	I	544	.	ENSP00000339445:L544I	L	-	1	0	CASZ1	10638328	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.262000	0.95591	2.352000	0.79861	0.561000	0.74099	CTC	CASZ1	-	NULL	ENSG00000130940		0.642	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2		0	68	0	G	NM_017766		10715741	-1			no_errors	ENST00000377022	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	10715741	G	T	10715741	3	4	78	1	0	0	0	0	1	0	0	0	2692	1000	35	3	3705	3	CASZ1	1	10715741	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1789	10715741	238534880	6	20374											
CASZ1	54897	genome.wustl.edu	37	chr1	10718606	10718606	+	Silent	SNP	G	G	C																															atgtttacatcttcagtgacGgctggtttatctgtgggcag																								rs151200081		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10718606G>C	ENST00000377022.3	-	7	1685	c.1368C>G	c.(1366-1368)gcC>gcG	p.A456A	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Silent_p.A456A	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	456					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CTTCAGTGACGGCTGGTTTAT	0.597																																																	0													88	83	85					1																	10718606		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1368C>G	1.37:g.10718606G>C			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A456	ENST00000377022.3	37	c.1368	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.597	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	45	0	G	NM_017766		10718606	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	5.43	86	5	SNP	1.000	C	C	10718606	G	C	10718606	2	2	78	1	0	0	0	0	0	0	0	1	2692	1103	39	5		5	CASZ1	1	10718606	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	2865	10718606	238532015	7	20375	83	2									
CASZ1	54897	genome.wustl.edu	37	chr1	10718611	10718611	+	Missense_Mutation	SNP	G	G	C																															tacatcttcagtgacggctgGtttatctgtgggcagtccgt																										TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:10718611G>C	ENST00000377022.3	-	7	1680	c.1363C>G	c.(1363-1365)Cca>Gca	p.P455A	CASZ1_ENST00000478728.2_5'Flank|CASZ1_ENST00000344008.5_Missense_Mutation_p.P455A	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	455					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTGACGGCTGGTTTATCTGTG	0.592																																																	0													89	84	86					1																	10718611		2203	4300	6503	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1363C>G	1.37:g.10718611G>C	ENSP00000366221:p.Pro455Ala		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P455A	ENST00000377022.3	37	c.1363	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762800	0.89932	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	N	0.22421	0.69	0.51233	D	0.999914	D;P;P;D	0.89917	0.989;0.942;0.942;1.0	P;P;P;D	0.85130	0.73;0.666;0.666;0.997	T	0.68853	-0.5299	9	0.62326	D	0.03	-5.6658	15.7558	0.78021	0.0:0.0:1.0:0.0	.	479;455;455;455	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	A	455	.	ENSP00000339445:P455A	P	-	1	0	CASZ1	10641198	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.208000	0.77907	2.237000	0.73441	0.655000	0.94253	CCA	CASZ1	-	NULL	ENSG00000130940		0.592	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	41	0	G	NM_017766		10718611	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	missense	5.38	88	5	SNP	1.000	C	C	10718611	G	C	10718611	3	2	78	1	0	0	0	0	1	0	0	0	2692	1261	44	5	3980	5	CASZ1	1	10718611	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5	10718611	238532010	8	20376	83	2									
EXOSC10	5394	genome.wustl.edu	37	chr1	11141254	11141254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatatatagcaggtaatggGtgtcatcccgggcgtagctg	10	10	14	7	2	1	1	1	0	0	1	2	1	2	1	1	3	2	4	1	3	5	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:11141254G>T	ENST00000376936.4	-	11	1371	c.1322C>A	c.(1321-1323)aCc>aAc	p.T441N	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000304457.7_Missense_Mutation_p.T441N|EXOSC10_ENST00000544779.1_Missense_Mutation_p.T441N	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	441					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CAGGTAATGGGTGTCATCCCG	0.552																																					Colon(179;105 1987 14326 27364 29542)												0													85	84	84					1																	11141254		2203	4300	6503	SO:0001583	missense	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"polymyositis/scleroderma autoantigen 2 (100kD)"	605960	"polymyositis/scleroderma autoantigen 2, 100kDa"	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1322C>A	1.37:g.11141254G>T	ENSP00000366135:p.Thr441Asn		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom	p.T441N	ENST00000376936.4	37	c.1322	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138887	0.77775	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	T;T;T	0.68181	-0.31;-0.31;-0.31	5.77	5.77	0.91146	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.89065	0.6609	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92105	0.5691	10	0.87932	D	0	-23.8875	19.3504	0.94381	0.0:0.0:1.0:0.0	.	441;441	Q01780-2;Q01780	.;EXOSX_HUMAN	N	441	ENSP00000366135:T441N;ENSP00000307307:T441N;ENSP00000439473:T441N	ENSP00000307307:T441N	T	-	2	0	EXOSC10	11063841	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	ACC	EXOSC10	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000171824		0.552	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	-	0	34	0	G	NM_001001998		11141254	-1	tier1	-	no_errors	ENST00000376936	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	11141254	G	T	11141254	3	4	78	1	0	0	0	0	1	0	0	0	5330	1261	44	3	1395	3	EXOSC10	1	11141254	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	422643	11141254	238109367	9	20377											
SPEN	23013	genome.wustl.edu	37	chr1	16259994	16259994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcagtgttgaggaaaGgactccaaccaaagcatctg	16	7	10	8	0	2	2	1	1	1	1	3	4	3	4	2	2	2	2	2	2	4	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:16259994G>T	ENST00000375759.3	+	11	7463	c.7259G>T	c.(7258-7260)aGg>aTg	p.R2420M		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2420	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTGAGGAAAGGACTCCAACC	0.542																																																	0													88	102	97					1																	16259994		2203	4300	6503	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7259G>T	1.37:g.16259994G>T	ENSP00000364912:p.Arg2420Met		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R2420M	ENST00000375759.3	37	c.7259	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	5.154	0.213976	0.09810	.	.	ENSG00000065526	ENST00000375759	T	0.08720	3.06	5.06	1.46	0.22682	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	P	0.34462	0.454	B	0.31191	0.125	T	0.40905	-0.9538	9	0.51188	T	0.08	-8.0431	7.7351	0.28810	0.4005:0.0:0.5995:0.0	.	2420	Q96T58	MINT_HUMAN	M	2420	ENSP00000364912:R2420M	ENSP00000364912:R2420M	R	+	2	0	SPEN	16132581	0.011000	0.17503	0.973000	0.42090	0.639000	0.38242	0.483000	0.22292	0.262000	0.21774	-0.379000	0.06801	AGG	SPEN	-	NULL	ENSG00000065526		0.542	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	-	0	82	0	G	NM_015001		16259994	1	tier1	-	no_errors	ENST00000375759	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.207	T	T	16259994	G	T	16259994	3	4	78	1	0	0	0	0	1	0	0	0	15085	1000	35	3	7301	3	SPEN	1	16259994	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5118740	16259994	232990627	10	20378											
TINAGL1	64129	genome.wustl.edu	37	chr1	32042855	32042855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagctagcaccgggtctgCacctgcggggcatccgggac	6	5	17	13	3	1	0	0	0	1	0	2	2	2	2	3	5	4	4	3	5	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:32042855C>T	ENST00000271064.7	+	2	182	c.106C>T	c.(106-108)Cac>Tac	p.H36Y	TINAGL1_ENST00000441210.2_Missense_Mutation_p.H36Y|TINAGL1_ENST00000457433.2_Missense_Mutation_p.H36Y|TINAGL1_ENST00000481165.1_3'UTR|RP11-73M7.1_ENST00000435872.1_RNA|TINAGL1_ENST00000537531.1_Missense_Mutation_p.H36Y	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	36					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACCGGGTCTGCACCTGCGGGG	0.726																																																	0													21	22	22					1																	32042855		2200	4297	6497	SO:0001583	missense	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.106C>T	1.37:g.32042855C>T	ENSP00000271064:p.His36Tyr		A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.H36Y	ENST00000271064.7	37	c.106	CCDS343.1	1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.394498	0.83011	.	.	ENSG00000142910	ENST00000457433;ENST00000441210;ENST00000271064;ENST00000537531;ENST00000403321	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.71	4.71	0.59529	.	0.050308	0.85682	D	0.000000	T	0.38558	0.1045	L	0.31804	0.96	0.47183	D	0.999341	P;P;P	0.45715	0.473;0.865;0.473	B;P;B	0.46510	0.069;0.519;0.069	T	0.05886	-1.0858	10	0.10636	T	0.68	.	12.6669	0.56848	0.0:0.9174:0.0:0.0826	.	36;36;36	B4DPK6;E7EUP2;Q9GZM7	.;.;TINAL_HUMAN	Y	36	ENSP00000395137:H36Y;ENSP00000411798:H36Y;ENSP00000271064:H36Y;ENSP00000445392:H36Y	ENSP00000271064:H36Y	H	+	1	0	TINAGL1	31815442	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.288000	0.59007	2.618000	0.88619	0.655000	0.94253	CAC	TINAGL1	-	NULL	ENSG00000142910		0.726	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1		0	11	0	C	NM_022164		32042855	1			no_errors	ENST00000271064	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	T	T	32042855	C	T	32042855	3	4	78	1	0	0	0	0	1	0	0	0	15969	710	25	3	108	3	TINAGL1	1	32042855	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	15782861	32042855	217207766	11	20379											
COL16A1	1307	genome.wustl.edu	37	chr1	32162599	32162599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccaggcagaagcagcGggtgtagaccttgccttcag	8	8	12	13	1	1	2	1	0	0	2	3	2	3	2	4	2	3	3	4	2	2	3	rs375383196		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:32162599G>T	ENST00000373672.3	-	8	1345	c.829C>A	c.(829-831)Cgc>Agc	p.R277S	COL16A1_ENST00000271069.6_Missense_Mutation_p.R277S|COL16A1_ENST00000373668.3_Missense_Mutation_p.R277S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	277	Nonhelical region 10 (NC10).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGAAGCAGCGGGTGTAGACC	0.607																																					Colon(143;498 1786 21362 25193 36625)												0													105	118	114					1																	32162599		2043	4186	6229	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"Collagens"	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.829C>A	1.37:g.32162599G>T	ENSP00000362776:p.Arg277Ser		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R277S	ENST00000373672.3	37	c.829	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620826	0.66787	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668;ENST00000373667	D;D;D;D	0.92446	-2.84;-2.91;-2.91;-3.04	4.73	4.73	0.59995	.	0.152990	0.46442	D	0.000290	D	0.93969	0.8069	L	0.40543	1.245	0.41047	D	0.985271	D;D;D	0.89917	1.0;0.993;0.996	D;D;D	0.79108	0.978;0.982;0.992	D	0.94808	0.7976	10	0.66056	D	0.02	.	16.8878	0.86080	0.0:0.0:1.0:0.0	.	277;277;277	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	277;277;277;5	ENSP00000362776:R277S;ENSP00000271069:R277S;ENSP00000362772:R277S;ENSP00000362771:R5S	ENSP00000271069:R277S	R	-	1	0	COL16A1	31935186	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.007000	0.57093	2.342000	0.79632	0.561000	0.74099	CGC	COL16A1	-	NULL	ENSG00000084636		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	0	43	0	G	NM_001856		32162599	-1	tier1	-	no_errors	ENST00000271069	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	T	T	32162599	G	T	32162599	3	4	78	1	0	0	0	0	1	0	0	0	3680	1116	39	2	4241	2	COL16A1	1	32162599	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	119744	32162599	217088022	12	20380											
GRIK3	2899	genome.wustl.edu	37	chr1	37267539	37267539	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaatgtgtgcatgttgatGacggcgtcagtcttgaccat	8	14	12	7	2	2	4	1	4	1	0	2	4	2	4	1	1	1	2	1	1	1	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:37267539G>A	ENST00000373091.3	-	16	2689	c.2673C>T	c.(2671-2673)gtC>gtT	p.V891V		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	891					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GCATGTTGATGACGGCGTCAG	0.592																																																	0													113	91	98					1																	37267539		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2673C>T	1.37:g.37267539G>A			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V891	ENST00000373091.3	37	c.2673	CCDS416.1	1																																																																																			GRIK3	-	NULL	ENSG00000163873		0.592	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0	38	0	G	NM_000831		37267539	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	silent	66.04	18	35	SNP	1.000	A	A	37267539	G	A	37267539	2	1	78	1	0	0	0	0	0	0	0	1	6802	1277	45	3		3	GRIK3	1	37267539	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5104940	37267539	211983082	13	20381											
BMP8B	656	genome.wustl.edu	37	chr1	40230327	40230327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcggttggcctgcggcAgctcgttgcttttcttcggc	2	13	15	11	4	1	0	0	0	1	0	4	1	1	1	1	5	3	5	1	5	0	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:40230327A>G	ENST00000372827.3	-	4	1211	c.836T>C	c.(835-837)cTg>cCg	p.L279P	BMP8B_ENST00000397360.2_Missense_Mutation_p.L304P	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	279					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|growth (GO:0040007)|ossification (GO:0001503)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)				endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCCTGCGGCAGCTCGTTGCT	0.652																																																	0													60	68	65					1																	40230327		2198	4297	6495	SO:0001583	missense	0			BC023526	CCDS444.1	1p35-p32	2014-01-30	2008-05-22	2003-10-22	ENSG00000116985	ENSG00000116985		"Bone morphogenetic proteins", "Endogenous ligands"	1075	protein-coding gene	gene with protein product	"osteogenic protein 2"	602284	"bone morphogenetic protein 8 (osteogenic protein 2)"	BMP8		1460021, 9070944	Standard	NM_001720		Approved	OP-2	uc001cdz.1	P34820	OTTHUMG00000009247	ENST00000372827.3:c.836T>C	1.37:g.40230327A>G	ENSP00000361915:p.Leu279Pro		E7EMY8|Q32NE5|Q53ZM7|Q9NUF0	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.L279P	ENST00000372827.3	37	c.836	CCDS444.1	1	.	.	.	.	.	.	.	.	.	.	A	7.506	0.653653	0.14580	.	.	ENSG00000116985	ENST00000372827;ENST00000397360	T;T	0.76578	-1.03;0.13	3.86	3.86	0.44501	Transforming growth factor-beta, C-terminal (1);	0.965208	0.08366	U	0.956867	T	0.75627	0.3875	M	0.68952	2.095	0.80722	D	1	B;B	0.32526	0.374;0.247	B;B	0.32149	0.141;0.086	T	0.65656	-0.6115	10	0.23302	T	0.38	.	11.8147	0.52202	1.0:0.0:0.0:0.0	.	304;279	E7EMY8;P34820	.;BMP8B_HUMAN	P	279;304	ENSP00000361915:L279P;ENSP00000380518:L304P	ENSP00000361915:L279P	L	-	2	0	BMP8B	40002914	1.000000	0.71417	0.995000	0.50966	0.037000	0.13140	3.434000	0.52841	1.621000	0.50320	0.456000	0.33151	CTG	BMP8B	-	NULL	ENSG00000116985		0.652	BMP8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP8B	HGNC	protein_coding	OTTHUMT00000025641.1	-	0	109	0	A	NM_001720		40230327	-1	tier1	-	no_errors	ENST00000372827	ensembl	human	known	74_37	missense	23.94	108	34	SNP	1.000	G	G	40230327	A	G	40230327	3	3	78	1	0	0	0	0	1	0	0	0	1469	188	7	4	388	4	BMP8B	1	40230327	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	2962788	40230327	209020294	14	20382											
TTC39A	22996	genome.wustl.edu	37	chr1	51756283	51756283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacggcgtagccgttccaGatgtacatcatttcctgaag	10	11	9	11	3	2	2	2	1	0	1	4	2	4	2	3	1	2	3	3	1	3	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:51756283G>T	ENST00000447632.2	-	15	1437	c.1389C>A	c.(1387-1389)atC>atA	p.I463I	TTC39A_ENST00000530004.1_Silent_p.I71I|TTC39A_ENST00000451380.1_Silent_p.I427I|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000371750.5_Silent_p.I428I|TTC39A_ENST00000413473.2_Silent_p.I431I|TTC39A_ENST00000262675.7_Silent_p.I400I			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	463								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AGCCGTTCCAGATGTACATCA	0.507																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											48	47	47					1																	51756283		1906	4122	6028	SO:0001819	synonymous_variant	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"Tetratricopeptide (TTC) repeat domain containing"	18657	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 34"	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1389C>A	1.37:g.51756283G>T			B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Silent	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.I463	ENST00000447632.2	37	c.1389		1																																																																																			TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.507	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2		0	55	0	G			51756283	-1			no_errors	ENST00000447632	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.991	T	T	51756283	G	T	51756283	2	4	78	1	0	0	0	0	0	0	0	1	16756	932	33	3		3	TTC39A	1	51756283	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11525956	51756283	197494338	15	20383											
INSL5	10022	genome.wustl.edu	37	chr1	67263857	67263857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaggcatccaccttcgGaaggttttgcgctggatttt	6	13	11	11	2	0	1	0	1	0	0	2	3	1	3	3	4	1	3	3	4	1	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:67263857G>T	ENST00000304526.2	-	2	281	c.247C>A	c.(247-249)Ccg>Acg	p.P83T		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	83						extracellular region (GO:0005576)				breast(2)|endometrium(1)|lung(5)	8						TCCACCTTCGGAAGGTTTTGC	0.463																																																	0													105	104	104					1																	67263857		2203	4300	6503	SO:0001583	missense	0			AF133816	CCDS634.1	1p31.3	2013-02-26			ENSG00000172410	ENSG00000172410		"Endogenous ligands"	6088	protein-coding gene	gene with protein product	"prepro-INSL5"	606413				10458910	Standard	NM_005478		Approved		uc001dcw.3	Q9Y5Q6	OTTHUMG00000009164	ENST00000304526.2:c.247C>A	1.37:g.67263857G>T	ENSP00000302724:p.Pro83Thr		Q3MIY4|Q5VYD8	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like	p.P83T	ENST00000304526.2	37	c.247	CCDS634.1	1	.	.	.	.	.	.	.	.	.	.	G	2.284	-0.364122	0.05103	.	.	ENSG00000172410	ENST00000304526	T	0.63255	-0.03	4.64	1.65	0.23941	Insulin-like (3);	0.958298	0.08571	N	0.926045	T	0.28896	0.0717	L	0.39245	1.2	0.09310	N	1	B	0.27882	0.192	B	0.28553	0.091	T	0.26224	-1.0109	10	0.30078	T	0.28	-20.762	6.6332	0.22869	0.0964:0.3476:0.556:0.0	.	83	Q9Y5Q6	INSL5_HUMAN	T	83	ENSP00000302724:P83T	ENSP00000302724:P83T	P	-	1	0	INSL5	67036445	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.542000	0.23222	0.164000	0.19529	-0.263000	0.10527	CCG	INSL5	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like	ENSG00000172410		0.463	INSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSL5	HGNC	protein_coding	OTTHUMT00000025403.1		0	85	0	G	NM_005478		67263857	-1			no_errors	ENST00000304526	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T	T	67263857	G	T	67263857	3	4	78	1	0	0	0	0	1	0	0	0	7796	1174	41	3	164	3	INSL5	1	67263857	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	15507574	67263857	181986764	16	20384											
HFM1	164045	genome.wustl.edu	37	chr1	91779035	91779035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaagactgtaagtttctGctgaatatcaagcccaactg	14	11	8	8	0	2	2	1	1	1	1	2	2	2	2	1	0	3	4	1	0	7	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:91779035G>T	ENST00000370425.3	-	30	3360	c.3262C>A	c.(3262-3264)Cag>Aag	p.Q1088K	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.Q320K|HFM1_ENST00000370424.3_Missense_Mutation_p.Q767K	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1088	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTAAGTTTCTGCTGAATATCA	0.308																																																	0													79	78	78					1																	91779035		2202	4297	6499	SO:0001583	missense	0			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"SEC63 domain containing 1"	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3262C>A	1.37:g.91779035G>T	ENSP00000359454:p.Gln1088Lys		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1088K	ENST00000370425.3	37	c.3262	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.47|12.47	1.947118|1.947118	0.34377|0.34377	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.60548|.	0.18;0.18;0.18|.	5.57|5.57	3.6|3.6	0.41247|0.41247	Sec63 domain (2);|.	0.232430|.	0.36932|.	N|.	0.002334|.	T|T	0.30541|0.30541	0.0768|0.0768	L|L	0.42581|0.42581	1.335|1.335	0.27940|0.27940	N|N	0.937566|0.937566	B;B;B|.	0.17852|.	0.004;0.005;0.024|.	B;B;B|.	0.20384|.	0.005;0.029;0.02|.	T|T	0.19289|0.19289	-1.0310|-1.0310	10|5	0.05959|.	T|.	0.93|.	.|.	14.3457|14.3457	0.66662|0.66662	0.0:0.0:0.7294:0.2706|0.0:0.0:0.7294:0.2706	.|.	767;299;1088|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	K|R	1088;320;767;772|299	ENSP00000359454:Q1088K;ENSP00000294696:Q320K;ENSP00000359453:Q767K|.	ENSP00000294696:Q320K|.	Q|S	-|-	1|3	0|2	HFM1|HFM1	91551623|91551623	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.976000|0.976000	0.68499|0.68499	4.685000|4.685000	0.61693|0.61693	0.635000|0.635000	0.30488|0.30488	0.591000|0.591000	0.81541|0.81541	CAG|AGC	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000162669		0.308	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	-	0	42	0	G	NM_001017975		91779035	-1	tier1	-	no_errors	ENST00000370425	ensembl	human	known	74_37	missense	19.35	50	12	SNP	1.000	T	T	91779035	G	T	91779035	3	4	78	1	0	0	0	0	1	0	0	0	7110	1328	46	3	1085	3	HFM1	1	91779035	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	24515178	91779035	157471586	17	20385											
KCNA3	3738	genome.wustl.edu	37	chr1	111216790	111216790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacctggcgctggaagtcGcggcggggcaagggccgctc	6	4	17	14	5	0	0	0	0	0	0	2	1	0	1	2	6	0	3	2	6	2	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:111216790G>A	ENST00000369769.2	-	1	865	c.642C>T	c.(640-642)cgC>cgT	p.R214R		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.R214R(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GCTGGAAGTCGCGGCGGGGCA	0.687																																																	1	Substitution - coding silent(1)	large_intestine(1)											36	44	41					1																	111216790		2200	4285	6485	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.642C>T	1.37:g.111216790G>A			Q5VWN2	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R214	ENST00000369769.2	37	c.642	CCDS828.2	1																																																																																			KCNA3	-	NULL	ENSG00000177272		0.687	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0	66	0	G	NM_002232		111216790	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	silent	43.21	46	35	SNP	0.933	A	A	111216790	G	A	111216790	2	1	78	1	0	0	0	0	0	0	0	1	8031	1074	38	1		1	KCNA3	1	111216790	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	19437755	111216790	138033831	18	20386											
NOTCH2	4853	genome.wustl.edu	37	chr1	120479966	120479966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctggcaggggttggacGcacactcatcgagttgctcc	6	9	14	12	3	1	0	1	0	0	0	3	2	2	1	1	4	2	6	1	4	0	2	rs367562640		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:120479966G>T	ENST00000256646.2	-	21	3680	c.3461C>A	c.(3460-3462)gCg>gAg	p.A1154E		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1154	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGGTTGGACGCACACTCATC	0.567			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													141	116	124					1																	120479966		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3461C>A	1.37:g.120479966G>T	ENSP00000256646:p.Ala1154Glu		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A1154E	ENST00000256646.2	37	c.3461	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975436	0.02215	.	.	ENSG00000134250	ENST00000256646	D	0.93659	-3.26	5.06	1.05	0.20165	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.494319	0.14828	U	0.296041	T	0.73521	0.3597	N	0.20986	0.625	0.09310	N	1	B;B	0.27380	0.177;0.003	B;B	0.38755	0.281;0.01	T	0.68557	-0.5377	10	0.02654	T	1	.	5.0751	0.14626	0.3191:0.0:0.5358:0.1451	.	1154;1154	Q6IQ50;Q04721	.;NOTC2_HUMAN	E	1154	ENSP00000256646:A1154E	ENSP00000256646:A1154E	A	-	2	0	NOTCH2	120281489	0.000000	0.05858	0.242000	0.24170	0.777000	0.43975	0.450000	0.21762	0.256000	0.21614	-0.918000	0.02743	GCG	NOTCH2	-	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134250		0.567	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1		0	53	0	G	NM_024408		120479966	-1			no_errors	ENST00000256646	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.001	T	T	120479966	G	T	120479966	3	4	78	1	0	0	0	0	1	0	0	0	10587	1087	38	2	4010	2	NOTCH2	1	120479966	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	9263176	120479966	128770655	19	20387											
FMO5	2330	genome.wustl.edu	37	chr1	146680547	146680547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgagaagagaacaacacatCagcaggatatccgtagtccc	15	6	9	11	2	1	2	1	0	0	2	4	5	3	3	2	1	3	2	2	1	5	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:146680547C>T	ENST00000254090.4	-	6	1085	c.697G>A	c.(697-699)Gat>Aat	p.D233N	FMO5_ENST00000465173.1_5'UTR|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_Missense_Mutation_p.D233N|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.D233N	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	233						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AACAACACATCAGCAGGATAT	0.418																																																	0													99	90	93					1																	146680547		2203	4300	6503	SO:0001583	missense	0			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.697G>A	1.37:g.146680547C>T	ENSP00000254090:p.Asp233Asn		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.D233N	ENST00000254090.4	37	c.697	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	29.7	5.028932	0.93518	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272	T;T;T	0.57752	0.38;0.38;0.38	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.86740	2.835	0.80722	D	1	D;D;D;D	0.76494	0.959;0.97;0.999;0.97	P;P;D;P	0.81914	0.764;0.742;0.995;0.88	T	0.75551	-0.3278	10	0.56958	D	0.05	-24.8488	17.6908	0.88268	0.0:1.0:0.0:0.0	.	233;233;233;233	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	N	233	ENSP00000416011:D233N;ENSP00000254090:D233N;ENSP00000358277:D233N	ENSP00000254090:D233N	D	-	1	0	FMO5	145147171	1.000000	0.71417	0.092000	0.20876	0.051000	0.14879	7.172000	0.77604	2.776000	0.95493	0.585000	0.79938	GAT	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000131781		0.418	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	-	0	60	0	C	NM_001461		146680547	-1	tier1	-	no_errors	ENST00000254090	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.995	T	T	146680547	C	T	146680547	3	4	78	1	0	0	0	0	1	0	0	0	5980	826	29	3	1063	3	FMO5	1	146680547	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	26200581	146680547	102570074	20	20388											
BCL9	607	genome.wustl.edu	37	chr1	147091363	147091363	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgaccatatgactcccGagcagatagcgtggctgaaa	12	8	10	11	2	0	4	0	3	0	1	1	5	1	4	3	1	2	2	3	1	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:147091363G>T	ENST00000234739.3	+	8	2142	c.1402G>T	c.(1402-1404)Gag>Tag	p.E468*		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	468	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.E468K(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TATGACTCCCGAGCAGATAGC	0.498			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	1	Substitution - Missense(1)	large_intestine(1)											49	53	52					1																	147091363		2203	4300	6503	SO:0001587	stop_gained	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1402G>T	1.37:g.147091363G>T	ENSP00000234739:p.Glu468*		Q5T489	Nonsense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.E468*	ENST00000234739.3	37	c.1402	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	44	10.700962	0.99453	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.0103	19.614	0.95622	0.0:0.0:1.0:0.0	.	.	.	.	X	468	.	ENSP00000234739:E468X	E	+	1	0	BCL9	145557987	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	9.411000	0.97342	2.873000	0.98535	0.561000	0.74099	GAG	BCL9	-	NULL	ENSG00000116128		0.498	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1		0	74	0	G	NM_004326		147091363	1			no_errors	ENST00000234739	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T	T	147091363	G	T	147091363	4	4	78	1	0	0	0	0	0	1	0	0	1382	1059	37	2	1420	2	BCL9	1	147091363	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	410816	147091363	102159258	21	20389											
GJA5	2702	genome.wustl.edu	37	chr1	147230837	147230837	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attccgtagatgaagtactgGcccacaatgaagcccacctc	12	8	8	13	1	0	3	0	2	0	1	2	3	1	3	4	1	2	2	4	1	5	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:147230837G>T	ENST00000271348.2	-	2	671	c.510C>A	c.(508-510)ggC>ggA	p.G170G	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Silent_p.G170G	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	170					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGAAGTACTGGCCCACAATGA	0.577																																																	0													101	93	96					1																	147230837		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"Ion channels / Gap junction proteins (connexins)"	4279	protein-coding gene	gene with protein product	"connexin 40"	121013	"gap junction protein, alpha 5, 40kD (connexin 40)", "gap junction protein, alpha 5, 40kDa (connexin 40)"				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.510C>A	1.37:g.147230837G>T			Q5T3B6|Q5U0N6	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.G170	ENST00000271348.2	37	c.510	CCDS929.1	1																																																																																			GJA5	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000143140		0.577	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	-	0	26	0	G	NM_181703		147230837	-1	tier1	-	no_errors	ENST00000271348	ensembl	human	known	74_37	silent	33.33	14	7	SNP	1.000	T	T	147230837	G	T	147230837	2	4	78	1	0	0	0	0	0	0	0	1	6430	1190	42	3		3	GJA5	1	147230837	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	139474	147230837	102019784	22	20390											
IVL	3713	genome.wustl.edu	37	chr1	152882507	152882507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaagaatgtgagcaacaGcagaaggagccacaggagca	17	2	14	8	0	0	3	0	1	0	2	0	6	0	5	1	2	6	4	1	2	4	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:152882507G>T	ENST00000368764.3	+	2	298	c.234G>T	c.(232-234)caG>caT	p.Q78H	IVL_ENST00000392667.2_Intron			P07476	INVO_HUMAN	involucrin	78					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGagcaacagcagaaggagc	0.527																																																	0													52	49	50					1																	152882507		2203	4300	6503	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.234G>T	1.37:g.152882507G>T	ENSP00000357753:p.Gln78His		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q78H	ENST00000368764.3	37	c.234	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729036	0.48833	.	.	ENSG00000163207	ENST00000368764	T	0.15834	2.39	4.35	-1.71	0.08133	.	.	.	.	.	T	0.02455	0.0075	N	0.19112	0.55	0.09310	N	0.999999	B	0.26195	0.144	B	0.20577	0.03	T	0.43048	-0.9415	9	0.48119	T	0.1	-2.8436	2.1747	0.03859	0.2697:0.1307:0.4668:0.1328	.	78	P07476	INVO_HUMAN	H	78	ENSP00000357753:Q78H	ENSP00000357753:Q78H	Q	+	3	2	IVL	151149131	0.007000	0.16637	0.002000	0.10522	0.739000	0.42172	0.316000	0.19469	-0.258000	0.09446	0.313000	0.20887	CAG	IVL	-	NULL	ENSG00000163207		0.527	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1		0	58	0	G	NM_005547		152882507	1			no_errors	ENST00000368764	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.003	T	T	152882507	G	T	152882507	3	4	78	1	0	0	0	0	1	0	0	0	7956	962	34	3	236	3	IVL	1	152882507	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5651670	152882507	96368114	23	20391											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576932	158576932	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctctgctgaggggcagaAgaaggccttctccacttgtg	7	9	12	13	0	2	3	0	1	2	2	3	3	2	3	4	3	1	2	4	3	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:158576932A>C	ENST00000361284.1	+	1	704	c.704A>C	c.(703-705)aAg>aCg	p.K235T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGGCAGAAGAAGGCCTTC	0.512																																																	0													172	172	172					1																	158576932		2203	4300	6503	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.704A>C	1.37:g.158576932A>C	ENSP00000354707:p.Lys235Thr		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K235T	ENST00000361284.1	37	c.704	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	A	11.78	1.741667	0.30865	.	.	ENSG00000198967	ENST00000361284	T	0.00130	8.69	5.25	1.72	0.24424	GPCR, rhodopsin-like superfamily (1);	0.225081	0.24786	N	0.035604	T	0.00039	0.0001	M	0.69185	2.1	0.09310	N	1	B	0.22541	0.071	B	0.22386	0.039	T	0.41395	-0.9511	10	0.42905	T	0.14	.	7.9587	0.30057	0.7492:0.0:0.2508:0.0	.	235	Q8NGY1	O10Z1_HUMAN	T	235	ENSP00000354707:K235T	ENSP00000354707:K235T	K	+	2	0	OR10Z1	156843556	0.000000	0.05858	0.823000	0.32752	0.973000	0.67179	0.162000	0.16501	0.134000	0.18681	0.528000	0.53228	AAG	OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198967		0.512	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	29	0	A	NM_001004478		158576932	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.180	C	C	158576932	A	C	158576932	3	2	78	1	0	0	0	0	1	0	0	0	10962	72	3	4	706	4	OR10Z1	1	158576932	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	5694425	158576932	90673689	24	20392											
OR10J1	26476	genome.wustl.edu	37	chr1	159409959	159409959	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaccgctatgtggccatCtgcaaccccctgagatacat	10	10	8	13	1	1	2	0	2	1	1	1	3	1	2	4	1	3	2	4	1	4	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:159409959C>A	ENST00000423932.3	+	1	448	c.411C>A	c.(409-411)atC>atA	p.I137I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	137					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGTGGCCATCTGCAACCCCC	0.493																																																	0													115	106	109					1																	159409959		2203	4300	6503	SO:0001819	synonymous_variant	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.411C>A	1.37:g.159409959C>A			Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I137	ENST00000423932.3	37	c.411	CCDS1185.1	1																																																																																			OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196184		0.493	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0	76	0	C	NM_012351		159409959	1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	silent	16.13	52	10	SNP	1.000	A	A	159409959	C	A	159409959	2	1	78	1	0	0	0	0	0	0	0	1	10949	903	32	3		3	OR10J1	1	159409959	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	833027	159409959	89840662	25	20393											
ATP1A2	477	genome.wustl.edu	37	chr1	160093091	160093091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaacccctgagtgggtcaAgttctgccgtcagcttttcg	7	11	10	13	2	3	1	2	1	1	0	4	1	3	1	3	1	3	2	3	1	2	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:160093091A>C	ENST00000361216.3	+	4	355	c.266A>C	c.(265-267)aAg>aCg	p.K89T	ATP1A2_ENST00000392233.3_Missense_Mutation_p.K89T	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	89					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAGTGGGTCAAGTTCTGCCGT	0.617																																																	0													182	183	183					1																	160093091		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.266A>C	1.37:g.160093091A>C	ENSP00000354490:p.Lys89Thr		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K89T	ENST00000361216.3	37	c.266	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699650	0.88830	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	T;T	0.79940	-1.32;-1.32	5.24	5.24	0.73138	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91202	0.7228	H	0.95679	3.705	0.80722	D	1	D	0.62365	0.991	D	0.71656	0.974	D	0.93596	0.6926	10	0.87932	D	0	.	14.2733	0.66164	1.0:0.0:0.0:0.0	.	89	P50993	AT1A2_HUMAN	T	89	ENSP00000354490:K89T;ENSP00000376066:K89T	ENSP00000354490:K89T	K	+	2	0	ATP1A2	158359715	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.139000	0.94554	2.200000	0.70718	0.459000	0.35465	AAG	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.617	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0	88	0	A	NM_000702		160093091	1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	32.61	62	30	SNP	1.000	C	C	160093091	A	C	160093091	3	2	78	1	0	0	0	0	1	0	0	0	1130	72	3	4	280	4	ATP1A2	1	160093091	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	683132	160093091	89157530	26	20394											
ATP1A4	480	genome.wustl.edu	37	chr1	160134010	160134010	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcagaattgcctccctGacgtcaggcctggcggttgg	6	9	15	11	2	1	2	1	1	0	1	2	2	2	2	3	5	1	2	3	5	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:160134010G>T	ENST00000368081.4	+	7	1314	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	281					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCCTCCCTGACGTCAGGCC	0.547																																																	0													184	151	162					1																	160134010		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.843G>T	1.37:g.160134010G>T			Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.L281	ENST00000368081.4	37	c.843	CCDS1197.1	1																																																																																			ATP1A4	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000132681		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	-	0	41	0	G	NM_144699		160134010	1	tier1	-	no_errors	ENST00000368081	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T	T	160134010	G	T	160134010	2	4	78	1	0	0	0	0	0	0	0	1	1132	1277	45	3		3	ATP1A4	1	160134010	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	40919	160134010	89116611	27	20395											
C1orf129	80133	genome.wustl.edu	37	chr1	170958995	170958995	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggaatttctcttccaGgtgtctaagatcgtggatgc	7	14	11	9	1	2	1	0	0	2	1	5	3	3	3	2	3	1	0	2	3	2	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:170958995G>T	ENST00000367758.3	+	11	978		c.e11-1		MROH9_ENST00000367759.4_Splice_Site	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9																		TTCTCTTCCAGGTGTCTAAGA	0.388																																																	0													180	166	170					1																	170958995		1856	4102	5958	SO:0001630	splice_region_variant	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.880-1G>T	1.37:g.170958995G>T			A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Splice_Site	SNP	-	e10-1	ENST00000367758.3	37	c.880-1	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969803	0.53614	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4383	0.67298	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf129	169225619	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	4.489000	0.60309	2.473000	0.83533	0.467000	0.42956	.	MROH9	-	-	ENSG00000117501		0.388	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1		0	68	0	G	NM_025063	Intron	170958995	1			no_errors	ENST00000367759	ensembl	human	known	74_37	splice_site	5.00	76	4	SNP	1.000	T	T	170958995	G	T	170958995	5	4	78	1	0	0	0	0	0	0	1	0	2003	1014	35	3	917	3	C1orf129	1	170958995	Splice_Site	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10824985	170958995	78291626	28	20396											
TNR	7143	genome.wustl.edu	37	chr1	175355408	175355408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgtccgagacatcgcGaaccaggatctgcgtggggc	9	6	14	12	4	1	1	0	0	1	1	3	4	2	2	2	3	2	0	2	3	1	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:175355408G>T	ENST00000367674.2	-	8	2245	c.1537C>A	c.(1537-1539)Cgc>Agc	p.R513S	TNR_ENST00000263525.2_Missense_Mutation_p.R513S			Q92752	TENR_HUMAN	tenascin R	513	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGACATCGCGAACCAGGATC	0.498																																																	0													32	35	34					1																	175355408		2203	4300	6503	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1537C>A	1.37:g.175355408G>T	ENSP00000356646:p.Arg513Ser		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R513S	ENST00000367674.2	37	c.1537	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567285	0.86439	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.53640	0.61;0.61	5.68	5.68	0.88126	Fibronectin, type III (4);	0.000000	0.64402	D	0.000001	T	0.52821	0.1758	N	0.21142	0.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.36578	-0.9742	10	0.05833	T	0.94	.	19.3874	0.94563	0.0:0.0:1.0:0.0	.	513	Q92752	TENR_HUMAN	S	513	ENSP00000356646:R513S;ENSP00000263525:R513S	ENSP00000263525:R513S	R	-	1	0	TNR	173622031	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.266000	0.78452	2.660000	0.90430	0.650000	0.86243	CGC	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4		0	75	0	G	NM_003285		175355408	-1			no_errors	ENST00000263525	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	175355408	G	T	175355408	3	4	78	1	0	0	0	0	1	0	0	0	16385	1058	37	2	2603	2	TNR	1	175355408	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	4396413	175355408	73895213	29	20397											
APOBEC4	403314	genome.wustl.edu	37	chr1	183617853	183617853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcgagagagaagcttaGccagtaatatggttttacta	14	11	10	6	1	0	2	0	0	0	2	1	4	0	2	1	1	3	4	1	1	7	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:183617853G>T	ENST00000308641.4	-	2	335	c.64C>A	c.(64-66)Cta>Ata	p.L22I	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	22					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GAGAAGCTTAGCCAGTAATAT	0.393																																																	0													113	103	107					1																	183617853		2203	4300	6503	SO:0001583	missense	0			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.64C>A	1.37:g.183617853G>T	ENSP00000310622:p.Leu22Ile		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.L22I	ENST00000308641.4	37	c.64	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237396	0.58886	.	.	ENSG00000173627	ENST00000308641	T	0.17213	2.29	5.24	1.89	0.25635	.	0.165196	0.26792	N	0.022473	T	0.19046	0.0457	L	0.27053	0.805	0.28985	N	0.888389	D	0.60160	0.987	P	0.55112	0.769	T	0.03641	-1.1017	10	0.56958	D	0.05	-8.2623	9.7548	0.40498	0.3223:0.0:0.6777:0.0	.	22	Q8WW27	ABEC4_HUMAN	I	22	ENSP00000310622:L22I	ENSP00000310622:L22I	L	-	1	2	APOBEC4	181884476	0.989000	0.36119	0.985000	0.45067	0.989000	0.77384	1.172000	0.31908	0.614000	0.30107	0.650000	0.86243	CTA	APOBEC4	-	NULL	ENSG00000173627		0.393	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	-	0	53	0	G	NM_203454		183617853	-1	tier1	-	no_errors	ENST00000308641	ensembl	human	known	74_37	missense	7.25	64	5	SNP	0.657	T	T	183617853	G	T	183617853	3	4	78	1	0	0	0	0	1	0	0	0	796	962	34	3	1043	3	APOBEC4	1	183617853	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	8262445	183617853	65632768	30	20398											
LRRN2	10446	genome.wustl.edu	37	chr1	204587951	204587951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagggtggattgcggctcGatgaagcggacacgggtgcc	8	6	17	10	4	0	1	0	1	0	0	1	4	0	3	1	5	3	1	1	5	1	1	rs368126022		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:204587951G>A	ENST00000367175.1	-	1	3382	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.I390I|LRRN2_ENST00000367176.3_Silent_p.I390I			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	390	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATTGCGGCTCGATGAAGCGGA	0.667																																																	0								G	,	0,4406		0,0,2203	57	63	61		1170,1170	0.3	1	1		61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRN2	NM_006338.2,NM_201630.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	390/714,390/714	204587951	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1170C>T	1.37:g.204587951G>A			B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I390	ENST00000367175.1	37	c.1170	CCDS1448.1	1																																																																																			LRRN2	-	smart_Cys-rich_flank_reg_C	ENSG00000170382		0.667	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1		0	65	0	G	NM_006338		204587951	-1			no_errors	ENST00000367175	ensembl	human	known	74_37	silent	5.00	56	3	SNP	0.990	A	A	204587951	G	A	204587951	2	1	78	1	0	0	0	0	0	0	0	1	9070	1048	37	1		1	LRRN2	1	204587951	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	20970098	204587951	44662670	31	20399											
USH2A	7399	genome.wustl.edu	37	chr1	216138700	216138700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaaaaggactgagtgtGttaagagtccattagggcga	13	9	14	5	1	0	3	0	2	0	1	1	5	1	4	1	2	0	1	1	2	4	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:216138700G>T	ENST00000307340.3	-	37	7465	c.7079C>A	c.(7078-7080)aCa>aAa	p.T2360K	USH2A_ENST00000366943.2_Missense_Mutation_p.T2360K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2360	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACTGAGTGTGTTAAGAGTCC	0.388										HNSCC(13;0.011)																																							0													143	141	142					1																	216138700		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7079C>A	1.37:g.216138700G>T	ENSP00000305941:p.Thr2360Lys		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.T2360K	ENST00000307340.3	37	c.7079	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576744	0.45902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56941	0.43;0.43	5.56	2.67	0.31697	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.177658	0.27262	N	0.020176	T	0.49915	0.1585	M	0.66939	2.045	0.09310	N	1	P	0.43477	0.808	B	0.41860	0.368	T	0.43653	-0.9378	10	0.44086	T	0.13	.	10.1833	0.42982	0.2547:0.0:0.7453:0.0	.	2360	O75445	USH2A_HUMAN	K	2360	ENSP00000305941:T2360K;ENSP00000355910:T2360K	ENSP00000305941:T2360K	T	-	2	0	USH2A	214205323	0.827000	0.29292	0.013000	0.15412	0.091000	0.18340	1.261000	0.32980	0.839000	0.34971	0.655000	0.94253	ACA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	70	0	G	NM_007123		216138700	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	9.64	75	8	SNP	0.045	T	T	216138700	G	T	216138700	3	4	78	1	0	0	0	0	1	0	0	0	17085	1377	48	3	8673	3	USH2A	1	216138700	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11550749	216138700	33111921	32	20400											
USH2A	7399	genome.wustl.edu	37	chr1	216373317	216373317	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaataggaatgatataacTtaaagtcaagtttccctctg	14	12	7	8	0	2	1	1	1	1	0	3	2	3	2	2	1	1	1	2	1	8	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:216373317T>G	ENST00000307340.3	-	17	3849	c.3463A>C	c.(3463-3465)Agt>Cgt	p.S1155R	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S1155R|USH2A_ENST00000366942.3_Missense_Mutation_p.S1155R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1155	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S1155R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATATAACTTAAAGTCAAG	0.428										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	large_intestine(1)											103	102	102					1																	216373317		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3463A>C	1.37:g.216373317T>G	ENSP00000305941:p.Ser1155Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S1155R	ENST00000307340.3	37	c.3463	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942826	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.53640	2.56;0.61;0.61	6.02	3.53	0.40419	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.476907	0.17534	N	0.170798	T	0.47563	0.1452	L	0.54323	1.7	0.21675	N	0.999594	P;P	0.50369	0.7;0.934	B;P	0.50537	0.207;0.643	T	0.27088	-1.0084	10	0.24483	T	0.36	.	8.3591	0.32348	0.1177:0.0:0.2256:0.6568	.	1155;1155	O75445-2;O75445	.;USH2A_HUMAN	R	1155	ENSP00000305941:S1155R;ENSP00000355910:S1155R;ENSP00000355909:S1155R	ENSP00000305941:S1155R	S	-	1	0	USH2A	214439940	0.138000	0.22547	0.944000	0.38274	0.982000	0.71751	1.307000	0.33516	2.311000	0.77944	0.533000	0.62120	AGT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	76	0	T	NM_007123		216373317	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	18.52	66	15	SNP	0.684	G	G	216373317	T	G	216373317	3	3	78	1	0	0	0	0	1	0	0	0	17085	1609	56	4	12383	4	USH2A	1	216373317	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	234617	216373317	32877304	33	20401											
C1orf198	84886	genome.wustl.edu	37	chr1	231004079	231004079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgctgcgcgggcggcagCcgcgcccactcgggcccgta	3	5	15	18	7	0	0	0	0	0	0	2	0	1	0	4	3	3	3	4	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:231004079C>T	ENST00000366663.5	-	1	320	c.180G>A	c.(178-180)cgG>cgA	p.R60R	C1orf198_ENST00000470540.1_Silent_p.R22R|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	60						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGGGCGGCAGCCGCGCCCACT	0.692																																																	0													19	22	21					1																	231004079		2198	4299	6497	SO:0001819	synonymous_variant	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.180G>A	1.37:g.231004079C>T			A8K8R8|B3KTW1|G5EA08	Silent	SNP	NULL	p.R60	ENST00000366663.5	37	c.180	CCDS1587.1	1																																																																																			C1orf198	-	NULL	ENSG00000119280		0.692	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2		0	28	0	C	NM_032800		231004079	-1			no_errors	ENST00000366663	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	231004079	C	T	231004079	2	4	78	1	0	0	0	0	0	0	0	1	2033	726	26	3		3	C1orf198	1	231004079	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	14630762	231004079	18246542	34	20402											
SLC35F3	148641	genome.wustl.edu	37	chr1	234444886	234444886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaatggcttgactttGaaggtgttttttaccaaggc	10	13	12	6	0	0	3	0	2	0	1	0	4	0	3	1	4	1	2	1	4	4	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:234444886G>T	ENST00000366617.3	+	3	669	c.441G>T	c.(439-441)ttG>ttT	p.L147F	MIR4671_ENST00000583284.1_RNA|SLC35F3_ENST00000366618.3_Missense_Mutation_p.L216F			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	147					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GCTTGACTTTGAAGGTGTTTT	0.388																																																	0													104	98	100					1																	234444886		2203	4300	6503	SO:0001583	missense	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"Solute carriers"	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.441G>T	1.37:g.234444886G>T	ENSP00000355576:p.Leu147Phe		Q5TDD6|Q8N9C9	Missense_Mutation	SNP	pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6	p.L147F	ENST00000366617.3	37	c.441		1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654747	0.67472	.	.	ENSG00000183780	ENST00000366618;ENST00000366617	T;T	0.52057	0.68;0.68	5.73	5.73	0.89815	.	0.210963	0.43747	D	0.000531	T	0.45337	0.1337	L	0.41824	1.3	0.47698	D	0.999496	B;P	0.36909	0.317;0.573	B;B	0.42827	0.399;0.278	T	0.32107	-0.9919	10	0.36615	T	0.2	-24.4036	13.1283	0.59368	0.073:0.0:0.9269:0.0	.	147;216	Q8IY50;Q8IY50-2	S35F3_HUMAN;.	F	216;147	ENSP00000355577:L216F;ENSP00000355576:L147F	ENSP00000355576:L147F	L	+	3	2	SLC35F3	232511509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.859000	0.55987	2.716000	0.92895	0.655000	0.94253	TTG	SLC35F3	-	NULL	ENSG00000183780		0.388	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1		0	57	0	G	NM_173508		234444886	1			no_errors	ENST00000366617	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	234444886	G	T	234444886	3	4	78	1	0	0	0	0	1	0	0	0	14635	1281	45	3	662	3	SLC35F3	1	234444886	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3440807	234444886	14805735	35	20403											
C1orf101	257044	genome.wustl.edu	37	chr1	244780851	244780851	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactataaacactgtttttcTtatgctattggaaaaccagg	14	14	6	7	0	1	0	0	0	1	0	1	1	1	1	1	2	4	2	1	2	8	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:244780851T>G	ENST00000366534.4	+	20	2565	c.2511T>G	c.(2509-2511)tcT>tcG	p.S837S	C1orf101_ENST00000366533.4_Intron|C1orf101_ENST00000366531.3_Silent_p.S686S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	837						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACTGTTTTTCTTATGCTATTG	0.323																																																	0													180	144	155					1																	244780851		692	1590	2282	SO:0001819	synonymous_variant	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2511T>G	1.37:g.244780851T>G			B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	NULL	p.S686	ENST00000366534.4	37	c.2058	CCDS44340.1	1																																																																																			C1orf101	-	NULL	ENSG00000179397		0.323	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	-	0	75	0	T	NM_173807		244780851	1	tier1	-	no_errors	ENST00000366531	ensembl	human	known	74_37	silent	43.04	45	34	SNP	0.572	G	G	244780851	T	G	244780851	2	3	78	1	0	0	0	0	0	0	0	1	1983	1596	56	4		4	C1orf101	1	244780851	Silent	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	10335965	244780851	4469770	36	20404											
OR6F1	343169	genome.wustl.edu	37	chr1	247875722	247875722	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatggctgccaggaggaaGtactctgtgcagcctaatga	10	8	13	10	0	1	1	0	1	1	0	1	3	1	3	3	3	4	3	3	3	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr1:247875722G>T	ENST00000302084.2	-	1	383	c.336C>A	c.(334-336)taC>taA	p.Y112*	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCAGGAGGAAGTACTCTGTGC	0.507																																																	0													92	90	91					1																	247875722		2203	4300	6503	SO:0001587	stop_gained	0			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"GPCR / Class A : Olfactory receptors"	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.336C>A	1.37:g.247875722G>T	ENSP00000305640:p.Tyr112*		B2RNV6|Q6IF02|Q96R39	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y112*	ENST00000302084.2	37	c.336	CCDS31095.1	1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416738	0.25552	.	.	ENSG00000169214	ENST00000302084	.	.	.	3.99	-1.22	0.09494	.	0.187138	0.26193	N	0.025786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-22.7233	9.1109	0.36727	0.5391:0.0:0.4609:0.0	.	.	.	.	X	112	.	ENSP00000305640:Y112X	Y	-	3	2	OR6F1	245942345	0.000000	0.05858	0.731000	0.30826	0.101000	0.19017	-0.873000	0.04214	-0.114000	0.11936	-0.948000	0.02665	TAC	OR6F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169214		0.507	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	-	0	32	0	G	NM_001005286		247875722	-1	tier1	-	no_errors	ENST00000302084	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	0.001	T	T	247875722	G	T	247875722	4	4	78	1	0	0	0	0	0	1	0	0	11240	1024	36	3	594	3	OR6F1	1	247875722	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3094871	247875722	1374899	37	20405											
KIF3C	3797	genome.wustl.edu	37	chr2	26203515	26203515	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccaggcctcaatcactggGccctcagggtacccaggcgg	8	5	12	16	1	3	0	3	0	0	0	3	0	3	0	4	5	1	1	4	5	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:26203515G>T	ENST00000264712.3	-	1	1851	c.1272C>A	c.(1270-1272)ggC>ggA	p.G424G	KIF3C_ENST00000405914.1_Silent_p.G424G	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	424					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAATCACTGGGCCCTCAGGGT	0.652																																																	0													63	69	67					2																	26203515		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"Kinesins"	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1272C>A	2.37:g.26203515G>T			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G424	ENST00000264712.3	37	c.1272	CCDS1719.1	2																																																																																			KIF3C	-	NULL	ENSG00000084731		0.652	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1		0	23	0	G			26203515	-1			no_errors	ENST00000264712	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.010	T	T	26203515	G	T	26203515	2	4	78	1	0	0	0	0	0	0	0	1	8329	1190	42	3		3	KIF3C	2	26203515	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		26203515	216995858	38	20406											
C2orf18	54978	genome.wustl.edu	37	chr2	26999241	26999241	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtccctccttccccacaggGgacctgttgatcatcatggc	6	10	10	15	0	2	1	2	1	0	0	5	2	5	2	5	4	0	1	5	4	0	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:26999241G>T	ENST00000344420.5	+	5	599	c.537G>T	c.(535-537)ggG>ggT	p.G179G	SLC35F6_ENST00000482746.1_Intron|SLC35F6_ENST00000416475.2_Splice_Site_p.G96G|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	179					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											TCCCCACAGGGGACCTGTTGA	0.592																																																	0													91	74	80					2																	26999241		2203	4300	6503	SO:0001630	splice_region_variant	0			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"ANT2-binding protein", "transport and golgi organization 9 homolog (Drosophila)"		"chromosome 2 open reading frame 18"	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.536-1G>T	2.37:g.26999241G>T			D6W543|Q53GK2|Q8NBX6|Q9NWX0	Silent	SNP	pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436	p.G179	ENST00000344420.5	37	c.537	CCDS1728.1	2																																																																																			SLC35F6	-	pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UCP036436	ENSG00000213699		0.592	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F6	HGNC	protein_coding	OTTHUMT00000250187.2		0	67	0	G	NM_017877	Silent	26999241	1			no_errors	ENST00000344420	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	T	T	26999241	G	T	26999241	5	4	78	1	0	0	0	0	0	0	1	0	2165	1246	43	3	555	3	C2orf18	2	26999241	Splice_Site	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	795726	26999241	216200132	39	20407											
PLEKHH2	130271	genome.wustl.edu	37	chr2	43971091	43971091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttcactgacgatccttctgGcagagatttagagcattgtc	9	13	10	9	1	2	3	1	1	1	2	4	5	3	3	1	1	1	3	1	1	1	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:43971091G>C	ENST00000282406.4	+	23	3628	c.3518G>C	c.(3517-3519)gGc>gCc	p.G1173A		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1173	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATCCTTCTGGCAGAGATTTA	0.443																																																	0													120	111	114					2																	43971091		2203	4300	6503	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3518G>C	2.37:g.43971091G>C	ENSP00000282406:p.Gly1173Ala		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.G1173A	ENST00000282406.4	37	c.3518	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957427	0.92726	.	.	ENSG00000152527	ENST00000282406	T	0.54866	0.55	5.76	5.76	0.90799	Band 4.1 domain (1);FERM domain (1);	0.046124	0.85682	D	0.000000	T	0.73171	0.3553	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71471	-0.4583	10	0.45353	T	0.12	-19.293	19.9857	0.97347	0.0:0.0:1.0:0.0	.	1173	Q8IVE3	PKHH2_HUMAN	A	1173	ENSP00000282406:G1173A	ENSP00000282406:G1173A	G	+	2	0	PLEKHH2	43824595	1.000000	0.71417	0.930000	0.37139	0.977000	0.68977	9.476000	0.97823	2.706000	0.92434	0.655000	0.94253	GGC	PLEKHH2	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000152527		0.443	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	-	0	38	0	G	NM_172069		43971091	1	tier1	-	no_errors	ENST00000282406	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	C	C	43971091	G	C	43971091	3	2	78	1	0	0	0	0	1	0	0	0	12116	1203	42	5	3604	5	PLEKHH2	2	43971091	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	16971850	43971091	199228282	40	20408											
RANBP2	5903	genome.wustl.edu	37	chr2	109384333	109384333	+	Frame_Shift_Del	DEL	T	T	-																															aaaacagcccaggaaaaagaTtctttgataacacctcatgt																										TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:109384333delT	ENST00000283195.6	+	20	7464	c.7338delT	c.(7336-7338)gatfs	p.D2446fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2446					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGGAAAAAGATTCTTTGATAA	0.388																																																	0													45	52	49					2																	109384333		1593	3224	4817	SO:0001589	frameshift_variant	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.7338delT	2.37:g.109384333delT	ENSP00000283195:p.Asp2446fs		Q13074|Q15280|Q53TE2|Q59FH7	Frame_Shift_Del	DEL	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S2447fs	ENST00000283195.6	37	c.7338	CCDS2079.1	2																																																																																			RANBP2	-	NULL	ENSG00000153201		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1		0	215	0	T	NM_006267		109384333	1	tier1		no_errors	ENST00000283195	ensembl	human	known	74_37	frame_shift_del	24.63	153	50	DEL	0.148	-	-	109384333	T	-	109384333	7	5	78	1	0	1	0	1	0	0	0	0	13073	1490	52	0	7416	0	RANBP2	2	109384333	Frame_Shift_Del	DEL	T	TCGA-L5-A893-01A-11D-A36J-09	65413242	109384333	133815040	41	20409											
EN1	2019	genome.wustl.edu	37	chr2	119600699	119600699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggccagggtctgccgccGctgctccgtgatgtagcggt	3	9	16	13	4	1	1	0	1	1	0	2	1	2	1	4	3	3	3	4	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:119600699G>A	ENST00000295206.6	-	2	1504	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	332					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTCTGCCGCCGCTGCTCCGTG	0.607																																																	0													52	48	49					2																	119600699		2203	4300	6503	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.994C>T	2.37:g.119600699G>A	ENSP00000295206:p.Arg332Trp		Q4ZG44	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.R332W	ENST00000295206.6	37	c.994	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124586	0.77436	.	.	ENSG00000163064	ENST00000295206	D	0.95885	-3.84	4.89	4.89	0.63831	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98466	0.9489	H	0.97491	4.015	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99177	1.0866	10	0.87932	D	0	-20.8063	12.7308	0.57197	0.0:0.0:0.8354:0.1646	.	332	Q05925	HME1_HUMAN	W	332	ENSP00000295206:R332W	ENSP00000295206:R332W	R	-	1	2	EN1	119317169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.434000	0.44802	2.257000	0.74773	0.555000	0.69702	CGG	EN1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000163064		0.607	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3		0	52	0	G			119600699	-1			no_errors	ENST00000295206	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	A	A	119600699	G	A	119600699	3	1	78	1	0	0	0	0	1	0	0	0	5125	1086	38	1	188	1	EN1	2	119600699	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10216366	119600699	123598674	42	20410											
CLASP1	23332	genome.wustl.edu	37	chr2	122120766	122120766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccttatgggagtctttGtgggcttccagagtcttcat	6	15	10	10	0	3	1	1	0	2	1	5	2	5	2	3	2	0	1	3	2	1	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:122120766G>T	ENST00000263710.4	-	37	4577	c.4188C>A	c.(4186-4188)caC>caA	p.H1396Q	CLASP1_ENST00000541859.1_Missense_Mutation_p.H1113Q|CLASP1_ENST00000409078.3_Missense_Mutation_p.H1329Q|CLASP1_ENST00000397587.3_Missense_Mutation_p.H1336Q|CLASP1_ENST00000541377.1_Missense_Mutation_p.H1335Q|CLASP1_ENST00000455322.2_Missense_Mutation_p.H1352Q|CLASP1_ENST00000545861.1_Missense_Mutation_p.H1103Q	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1396	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGGAGTCTTTGTGGGCTTCCA	0.478																																																	0													75	72	73					2																	122120766		1944	4135	6079	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4188C>A	2.37:g.122120766G>T	ENSP00000263710:p.His1396Gln		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H1396Q	ENST00000263710.4	37	c.4188		2	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261668	0.59431	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.49	2.68	0.31781	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75162	0.3812	M	0.76002	2.32	0.51233	D	0.999912	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.997;0.997;0.998	T	0.75668	-0.3238	10	0.72032	D	0.01	-0.569	9.3862	0.38345	0.3945:0.0:0.6055:0.0	.	1329;1336;1396	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	Q	1396;1352;1336;1335;1113;1329;1103	ENSP00000263710:H1396Q;ENSP00000389372:H1352Q;ENSP00000380717:H1336Q;ENSP00000441625:H1335Q;ENSP00000441770:H1113Q;ENSP00000386442:H1329Q;ENSP00000438620:H1103Q	ENSP00000263710:H1396Q	H	-	3	2	CLASP1	121837236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.071000	0.41500	0.800000	0.34041	0.563000	0.77884	CAC	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.478	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0	61	0	G	NM_015282		122120766	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.999	T	T	122120766	G	T	122120766	3	4	78	1	0	0	0	0	1	0	0	0	3461	1368	48	3	444	3	CLASP1	2	122120766	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	2520067	122120766	121078607	43	20411											
PKP4	8502	genome.wustl.edu	37	chr2	159477843	159477843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagccagaacgtgagcaaGgcagacaacagacagcagca	18	1	11	11	1	0	4	0	1	0	3	0	4	0	4	1	1	7	4	1	1	4	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:159477843G>T	ENST00000389759.3	+	6	625	c.513G>T	c.(511-513)aaG>aaT	p.K171N	PKP4_ENST00000389757.3_Missense_Mutation_p.K171N	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	171					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.K171N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACGTGAGCAAGGCAGACAACA	0.443										HNSCC(62;0.18)																																							1	Substitution - Missense(1)	ovary(1)											140	117	125					2																	159477843		2203	4300	6503	SO:0001583	missense	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.513G>T	2.37:g.159477843G>T	ENSP00000374409:p.Lys171Asn		Q86W91	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K171N	ENST00000389759.3	37	c.513	CCDS33305.1	2	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733745	0.69189	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.75050	-0.9;-0.9	5.79	1.87	0.25490	.	0.269624	0.41938	D	0.000797	T	0.77519	0.4142	L	0.44542	1.39	0.51482	D	0.999923	D;D;D;D	0.71674	0.993;0.994;0.996;0.998	P;P;P;D	0.65573	0.893;0.785;0.711;0.936	T	0.75536	-0.3283	10	0.44086	T	0.13	-18.9021	11.0315	0.47776	0.3227:0.0:0.6773:0.0	.	23;171;171;23	Q6LCG8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	N	23;171;171	ENSP00000374407:K171N;ENSP00000374409:K171N	ENSP00000374407:K171N	K	+	3	2	PKP4	159186089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.239000	0.32719	0.750000	0.32877	0.655000	0.94253	AAG	PKP4	-	NULL	ENSG00000144283		0.443	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1		0	38	0	G			159477843	1			no_errors	ENST00000389759	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	159477843	G	T	159477843	3	4	78	1	0	0	0	0	1	0	0	0	12026	991	35	3	531	3	PKP4	2	159477843	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	37357077	159477843	83721530	44	20412											
ITGB6	3694	genome.wustl.edu	37	chr2	160994054	160994054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatacactgcccacagtaGcagtcaccccttccgctgca	10	7	7	17	1	1	1	1	0	0	1	2	1	2	1	4	0	4	4	4	0	2	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:160994054G>T	ENST00000283249.2	-	10	1788	c.1551C>A	c.(1549-1551)tgC>tgA	p.C517*	ITGB6_ENST00000428609.2_Nonsense_Mutation_p.C475*|ITGB6_ENST00000409872.1_Nonsense_Mutation_p.C517*|ITGB6_ENST00000409967.2_Nonsense_Mutation_p.C517*	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	517	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCCACAGTAGCAGTCACCCC	0.562																																																	0													87	80	82					2																	160994054		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1551C>A	2.37:g.160994054G>T	ENSP00000283249:p.Cys517*		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Nonsense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.C517*	ENST00000283249.2	37	c.1551	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.366766	0.98238	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	.	.	.	5.39	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9203	0.47161	0.1455:0.0:0.8545:0.0	.	.	.	.	X	517;475;517;517	.	ENSP00000283249:C517X	C	-	3	2	ITGB6	160702300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.426000	0.52778	1.397000	0.46682	0.655000	0.94253	TGC	ITGB6	-	pirsf_Integrin_bsu,pfam_EGF_extracell	ENSG00000115221		0.562	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1		0	47	0	G	NM_000888		160994054	-1			no_errors	ENST00000283249	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	1.000	T	T	160994054	G	T	160994054	4	4	78	1	0	0	0	0	0	1	0	0	7926	963	34	3	839	3	ITGB6	2	160994054	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1516211	160994054	82205319	45	20413											
SCN9A	6335	genome.wustl.edu	37	chr2	167144975	167144975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgctcttttttaagaCggtctaacatctgttgaaat	9	18	6	8	1	4	2	0	1	4	1	4	2	4	2	0	1	2	2	0	1	3	7	rs367556839		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:167144975C>T	ENST00000409435.1	-	9	1285	c.1286G>A	c.(1285-1287)cGt>cAt	p.R429H	SCN9A_ENST00000303354.6_Missense_Mutation_p.R430H|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R429H|SCN9A_ENST00000375387.4_Missense_Mutation_p.R430H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	429					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTTTAAGACGGTCTAACAT	0.388																																																	0								C	HIS/ARG	1,3679		0,1,1839	139	148	146		1286	-1.6	0	2		146	0,8184		0,0,4092	no	missense	SCN9A	NM_002977.3	29	0,1,5931	TT,TC,CC		0.0,0.0272,0.0084	possibly-damaging	429/1978	167144975	1,11863	1840	4092	5932	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1286G>A	2.37:g.167144975C>T	ENSP00000386330:p.Arg429His		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.R430H	ENST00000409435.1	37	c.1289	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489889	0.44249	2.72E-4	0.0	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;T;T	0.96232	-3.92;-3.95;-3.95;-3.95;-0.39;-0.39	5.74	-1.57	0.08506	.	0.609303	0.14906	N	0.291557	D	0.89705	0.6792	N	0.20685	0.6	0.29646	N	0.844368	P;P;B	0.44309	0.832;0.832;0.042	B;B;B	0.42319	0.383;0.172;0.022	D	0.85256	0.1047	10	0.48119	T	0.1	.	3.8503	0.08953	0.2691:0.2931:0.0:0.4378	.	429;429;430	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	H	429;430;430;429;294;294	ENSP00000386306:R429H;ENSP00000364536:R430H;ENSP00000304748:R430H;ENSP00000386330:R429H;ENSP00000413212:R294H;ENSP00000393141:R294H	ENSP00000304748:R430H	R	-	2	0	SCN9A	166853221	0.903000	0.30736	0.031000	0.17742	0.911000	0.54048	1.471000	0.35365	-0.120000	0.11809	-0.913000	0.02753	CGT	SCN9A	-	NULL	ENSG00000169432		0.388	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	64	0	C	NM_002977		167144975	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.509	T	T	167144975	C	T	167144975	3	4	78	1	0	0	0	0	1	0	0	0	13970	536	19	1	4719	1	SCN9A	2	167144975	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	6150921	167144975	76054398	46	20414											
XIRP2	129446	genome.wustl.edu	37	chr2	168100467	168100467	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattagacattctaaaagaAgttcctgatgcagattctct	13	13	6	9	0	2	4	0	1	2	3	4	4	3	4	2	0	1	2	2	0	4	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:168100467A>C	ENST00000409195.1	+	9	2654	c.2565A>C	c.(2563-2565)gaA>gaC	p.E855D	XIRP2_ENST00000409273.1_Missense_Mutation_p.E633D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E855D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	680					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCTAAAAGAAGTTCCTGATG	0.363																																																	0													109	108	108					2																	168100467		1844	4096	5940	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2565A>C	2.37:g.168100467A>C	ENSP00000386840:p.Glu855Asp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.E855D	ENST00000409195.1	37	c.2565	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	1.926	-0.447051	0.04572	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.24	5.83	1.89	0.25635	.	0.408783	0.28600	N	0.014771	T	0.01940	0.0061	N	0.21373	0.66	0.20307	N	0.999916	B;B;B	0.12013	0.005;0.001;0.001	B;B;B	0.11329	0.006;0.003;0.003	T	0.49476	-0.8936	10	0.15952	T	0.53	-3.3885	6.4892	0.22105	0.4851:0.2623:0.0:0.2526	.	680;680;633	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	855;855;633	ENSP00000386840:E855D;ENSP00000295237:E855D;ENSP00000387255:E633D	ENSP00000295237:E855D	E	+	3	2	XIRP2	167808713	0.006000	0.16342	0.128000	0.21923	0.930000	0.56654	0.156000	0.16382	0.067000	0.16545	0.533000	0.62120	GAA	XIRP2	-	NULL	ENSG00000163092		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	55	0	A	NM_152381		168100467	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.352	C	C	168100467	A	C	168100467	3	2	78	1	0	0	0	0	1	0	0	0	17479	69	3	4	2595	4	XIRP2	2	168100467	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	955492	168100467	75098906	47	20415											
TTN	7273	genome.wustl.edu	37	chr2	179391940	179391940	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggaccatgttacttctggGgtaggctcacccgtgaaagc	9	9	12	11	1	2	1	1	1	1	0	2	2	2	2	2	4	2	3	2	4	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179391940G>C	ENST00000591111.1	-	313	103076	c.102852C>G	c.(102850-102852)acC>acG	p.T34284T	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000589042.1_Silent_p.T35925T|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.T33357T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.T26860T|TTN_ENST00000359218.5_Silent_p.T26985T|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Silent_p.T27052T			Q8WZ42	TITIN_HUMAN	titin	34284	Ig-like 152.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTTCTGGGGTAGGCTCAC	0.448																																																	0													131	113	118					2																	179391940		1904	4108	6012	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102852C>G	2.37:g.179391940G>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T33357	ENST00000591111.1	37	c.100071		2																																																																																			TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	70	0	G	NM_133378		179391940	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	24.24	50	16	SNP	1.000	C	C	179391940	G	C	179391940	2	2	78	1	0	0	0	0	0	0	0	1	16784	1219	43	5		5	TTN	2	179391940	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11291473	179391940	63807433	48	20416											
TTN	7273	genome.wustl.edu	37	chr2	179417237	179417237	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatatctgacaggtcaacTtcaggtgtaataataagttc	13	12	10	6	0	3	1	2	1	1	0	4	2	3	2	0	3	1	2	0	3	5	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179417237T>C	ENST00000591111.1	-	285	85691	c.85467A>G	c.(85465-85467)gaA>gaG	p.E28489E	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.E30130E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.E27562E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.E21065E|TTN_ENST00000359218.5_Silent_p.E21190E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.E21257E			Q8WZ42	TITIN_HUMAN	titin	28489	Ig-like 132.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTCAACTTCAGGTGTAA	0.433																																																	0													76	73	74					2																	179417237		1890	4118	6008	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.85467A>G	2.37:g.179417237T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E27562	ENST00000591111.1	37	c.82686		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	46	0	T	NM_133378		179417237	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.383	C	C	179417237	T	C	179417237	2	2	78	1	0	0	0	0	0	0	0	1	16784	1606	56	4		4	TTN	2	179417237	Silent	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	25297	179417237	63782136	49	20417											
TTN	7273	genome.wustl.edu	37	chr2	179542443	179542443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacatattcttcttcgggaGgaacttcctcttcctcaggt	7	15	8	11	1	4	0	1	0	3	0	7	2	6	2	2	3	2	1	2	3	3	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179542443G>T	ENST00000591111.1	-	144	33469	c.33245C>A	c.(33244-33246)cCt>cAt	p.P11082H	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11399H|TTN_ENST00000342992.6_Missense_Mutation_p.P10155H|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	10212	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTCGGGAGGAACTTCCTC	0.448																																																	0													100	99	100					2																	179542443		1860	4080	5940	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33245C>A	2.37:g.179542443G>T	ENSP00000465570:p.Pro11082His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P10155H	ENST00000591111.1	37	c.30464		2	.	.	.	.	.	.	.	.	.	.	G	8.442	0.850984	0.17034	.	.	ENSG00000155657	ENST00000342992	T	0.69435	-0.4	3.8	1.93	0.25924	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51092	0.1654	.	.	.	0.09310	N	0.999999	B	0.29716	0.255	B	0.27076	0.076	T	0.48937	-0.8990	8	0.87932	D	0	.	3.8812	0.09079	0.2854:0.0:0.5403:0.1743	.	11082	Q8WZ42	TITIN_HUMAN	H	10155	ENSP00000343764:P10155H	ENSP00000343764:P10155H	P	-	2	0	TTN	179250688	0.000000	0.05858	0.834000	0.33040	0.945000	0.59286	-0.334000	0.07883	0.715000	0.32103	0.609000	0.83330	CCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	98	0	G	NM_133378		179542443	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	14.85	86	15	SNP	0.016	T	T	179542443	G	T	179542443	3	4	78	1	0	0	0	0	1	0	0	0	16784	1000	35	3	70201	3	TTN	2	179542443	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	125206	179542443	63656930	50	20418											
TTN	7273	genome.wustl.edu	37	chr2	179605889	179605889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagcacaagcagctctGctgcacaggtggactcaccc	11	5	10	15	0	2	1	1	0	1	1	2	2	2	2	2	2	5	5	2	2	2	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:179605889G>T	ENST00000591111.1	-	46	11344	c.11120C>A	c.(11119-11121)gCa>gAa	p.A3707E	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A4024E|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.A3661E|TTN_ENST00000359218.5_Missense_Mutation_p.A3786E|TTN_ENST00000342175.6_Missense_Mutation_p.A3853E			Q8WZ42	TITIN_HUMAN	titin	14009	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCAGCTCTGCTGCACAGGT	0.493																																																	0													88	89	89					2																	179605889		1916	4136	6052	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11120C>A	2.37:g.179605889G>T	ENSP00000465570:p.Ala3707Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A3853E	ENST00000591111.1	37	c.11558		2	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684299	0.29872	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.71103	-0.54;-0.54;-0.54	5.87	5.87	0.94306	.	.	.	.	.	D	0.86343	0.5910	M	0.92122	3.275	0.38917	D	0.957659	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.65323	0.934;0.934;0.934	D	0.89500	0.3763	9	0.87932	D	0	.	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	3661;3786;3853	D3DPF9;E7EQE6;E7ET18	.;.;.	E	3661;3853;3786;3661	ENSP00000434586:A3661E;ENSP00000340554:A3853E;ENSP00000352154:A3786E	ENSP00000340554:A3853E	A	-	2	0	TTN	179314134	1.000000	0.71417	0.981000	0.43875	0.182000	0.23217	6.629000	0.74267	2.941000	0.99782	0.655000	0.94253	GCA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	39	0	G	NM_133378		179605889	-1			no_errors	ENST00000342175	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	179605889	G	T	179605889	3	4	78	1	0	0	0	0	1	0	0	0	16784	1319	46	3	92718	3	TTN	2	179605889	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	63446	179605889	63593484	51	20419											
COL5A2	1290	genome.wustl.edu	37	chr2	189949926	189949926	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccctctggtccacgtGaaccaatcggaccctaataa	11	7	10	13	2	1	1	0	1	1	0	3	3	2	2	4	3	1	0	4	3	4	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:189949926G>T	ENST00000374866.3	-	11	1032	c.758C>A	c.(757-759)tCa>tAa	p.S253*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	253					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGTCCACGTGAACCAATCGG	0.388																																																	0													46	42	43					2																	189949926		2203	4300	6503	SO:0001587	stop_gained	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.758C>A	2.37:g.189949926G>T	ENSP00000364000:p.Ser253*		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.S253*	ENST00000374866.3	37	c.758	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.949507	0.97956	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.99	5.11	0.69529	.	1.008970	0.07970	N	0.983805	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3729	0.38266	0.1607:0.0:0.8393:0.0	.	.	.	.	X	253;70	.	.	S	-	2	0	COL5A2	189658171	0.171000	0.23029	0.104000	0.21259	0.911000	0.54048	2.624000	0.46444	1.543000	0.49345	0.655000	0.94253	TCA	COL5A2	-	pfam_Collagen	ENSG00000204262		0.388	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0	137	0	G	NM_000393		189949926	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	nonsense	7.35	63	5	SNP	0.372	T	T	189949926	G	T	189949926	4	4	78	1	0	0	0	0	0	1	0	0	3704	1294	45	3	3917	3	COL5A2	2	189949926	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10344037	189949926	53249447	52	20420											
WDFY1	57590	genome.wustl.edu	37	chr2	224760340	224760340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtcccaccagaggcaggcGacactacctagggatttgtg	9	7	14	11	1	0	1	0	0	0	1	1	3	1	2	3	4	1	1	3	4	2	3	rs374832636		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:224760340G>A	ENST00000233055.4	-	7	708	c.606C>T	c.(604-606)gtC>gtT	p.V202V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	202						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)	p.V202V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGAGGCAGGCGACACTACCTA	0.512																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		1,4405	2.1+/-5.4	0,1,2202	53	49	50		606	-0.3	0.1	2		50	0,8600		0,0,4300	no	coding-synonymous	WDFY1	NM_020830.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		202/411	224760340	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.606C>T	2.37:g.224760340G>A			Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V202	ENST00000233055.4	37	c.606	CCDS33387.1	2																																																																																			WDFY1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085449		0.512	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1		0	48	0	G	NM_020830		224760340	-1			no_errors	ENST00000233055	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.970	A	A	224760340	G	A	224760340	2	1	78	1	0	0	0	0	0	0	0	1	17317	1045	37	1		1	WDFY1	2	224760340	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	34810414	224760340	18439033	53	20421											
DNER	92737	genome.wustl.edu	37	chr2	230231593	230231593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccacagccaacctggCatgccggatggatgcaatgg	9	5	12	15	2	0	0	0	0	0	0	0	2	0	2	5	4	4	2	5	4	2	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:230231593C>T	ENST00000341772.4	-	12	2232	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	700					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCAACCTGGCATGCCGGATG	0.532																																																	0													73	71	72					2																	230231593		2203	4300	6503	SO:0001583	missense	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.2098G>A	2.37:g.230231593C>T	ENSP00000345229:p.Ala700Thr		A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A700T	ENST00000341772.4	37	c.2098	CCDS33390.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.310203	0.95629	.	.	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.85955	-2.05	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89313	0.3634	10	0.72032	D	0.01	.	20.3382	0.98754	0.0:1.0:0.0:0.0	.	700	Q8NFT8	DNER_HUMAN	T	700;418	ENSP00000345229:A700T	ENSP00000345229:A700T	A	-	1	0	DNER	229939837	1.000000	0.71417	0.997000	0.53966	0.743000	0.42351	7.397000	0.79903	2.817000	0.96982	0.551000	0.68910	GCC	DNER	-	NULL	ENSG00000187957		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	-	0	29	0	C	NM_139072		230231593	-1	tier1	-	no_errors	ENST00000341772	ensembl	human	known	74_37	missense	50.00	6	6	SNP	1.000	T	T	230231593	C	T	230231593	3	4	78	1	0	0	0	0	1	0	0	0	4681	710	25	3	123	3	DNER	2	230231593	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	5471253	230231593	12967780	54	20422											
SP100	6672	genome.wustl.edu	37	chr2	231331900	231331900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcagaagcctcgagcGgggcactgagaagcaagcat	11	3	14	13	4	0	2	0	1	0	2	1	4	0	2	2	2	4	4	2	2	3	0	rs376109285		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:231331900G>T	ENST00000264052.5	+	13	1616	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	SP100_ENST00000340126.4_Missense_Mutation_p.G421W|SP100_ENST00000409897.1_Missense_Mutation_p.G386W|SP100_ENST00000341950.4_Missense_Mutation_p.G421W|SP100_ENST00000427101.2_Missense_Mutation_p.G396W|SP100_ENST00000409112.1_Missense_Mutation_p.G421W|SP100_ENST00000409824.1_Missense_Mutation_p.G396W|SP100_ENST00000409341.1_Missense_Mutation_p.G421W	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	421	Sufficient to mediate interaction with ETS1.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGCCTCGAGCGGGGCACTGAG	0.542																																																	0													115	127	123					2																	231331900		2203	4300	6503	SO:0001583	missense	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"Zinc fingers, PHD-type"	11206	protein-coding gene	gene with protein product		604585	"nuclear antigen Sp100"			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1261G>T	2.37:g.231331900G>T	ENSP00000264052:p.Gly421Trp		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.G421W	ENST00000264052.5	37	c.1261	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122226	0.37436	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897;ENST00000452345	T;T;T;T;T;T;T;T;T	0.80123	2.32;2.22;2.21;2.2;-1.34;0.24;2.09;2.21;0.85	3.92	1.35	0.21983	.	1.525520	0.04946	N	0.459446	T	0.69043	0.3067	N	0.08118	0	0.09310	N	1	P;P;B;B;B;P;P	0.48162	0.906;0.849;0.42;0.295;0.428;0.849;0.906	P;B;B;B;B;B;P	0.48334	0.574;0.37;0.061;0.028;0.028;0.37;0.574	T	0.61158	-0.7119	10	0.66056	D	0.02	.	4.3173	0.11000	0.2322:0.0:0.19:0.5778	.	396;386;421;421;421;396;421	F8WFE2;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;SP100_HUMAN;.;.;.	W	421;396;396;421;421;421;421;386;86	ENSP00000264052:G421W;ENSP00000399389:G396W;ENSP00000387311:G396W;ENSP00000386404:G421W;ENSP00000386427:G421W;ENSP00000343023:G421W;ENSP00000342729:G421W;ENSP00000386998:G386W;ENSP00000416563:G86W	ENSP00000264052:G421W	G	+	1	0	SP100	231040144	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.645000	0.05409	0.283000	0.22279	-1.494000	0.00967	GGG	SP100	-	NULL	ENSG00000067066		0.542	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2		0	52	0	G	NM_003113		231331900	1			no_errors	ENST00000340126	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	T	T	231331900	G	T	231331900	3	4	78	1	0	0	0	0	1	0	0	0	15005	1116	39	2	1311	2	SP100	2	231331900	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1100307	231331900	11867473	55	20423											
TRPM8	79054	genome.wustl.edu	37	chr2	234869499	234869499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcctctttctggagaatgGcttgaacctacggaagtttc	8	12	10	11	2	2	2	0	1	2	1	3	4	2	3	3	3	2	2	3	3	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:234869499G>T	ENST00000324695.4	+	12	1482	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V	TRPM8_ENST00000433712.2_Missense_Mutation_p.G169V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	481					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTGGAGAATGGCTTGAACCTA	0.478																																																	0													115	101	106					2																	234869499		2203	4300	6503	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1442G>T	2.37:g.234869499G>T	ENSP00000323926:p.Gly481Val		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.G481V	ENST00000324695.4	37	c.1442	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.549027	0.86127	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	D;D	0.87571	-2.27;-2.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95387	0.8478	10	0.87932	D	0	-32.5183	18.6269	0.91344	0.0:0.0:1.0:0.0	.	169;481	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	V	481;169	ENSP00000323926:G481V;ENSP00000404423:G169V	ENSP00000323926:G481V	G	+	2	0	TRPM8	234534238	1.000000	0.71417	0.997000	0.53966	0.958000	0.62258	8.142000	0.89619	2.735000	0.93741	0.655000	0.94253	GGC	TRPM8	-	NULL	ENSG00000144481		0.478	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4		0	74	0	G	NM_024080		234869499	1			no_errors	ENST00000324695	ensembl	human	known	74_37	missense	5.08	55	3	SNP	1.000	T	T	234869499	G	T	234869499	3	4	78	1	0	0	0	0	1	0	0	0	16640	1203	42	3	1484	3	TRPM8	2	234869499	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3537599	234869499	8329874	56	20424											
KIF1A	547	genome.wustl.edu	37	chr2	241712609	241712609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttcagctcgcggatcaGcttgttgttggggtcctcat	5	14	11	11	2	3	0	3	0	0	0	6	1	5	1	2	3	2	4	2	3	0	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr2:241712609G>T	ENST00000320389.7	-	13	1260	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	KIF1A_ENST00000498729.2_Missense_Mutation_p.L368M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	368					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCGCGGATCAGCTTGTTGTTG	0.617																																																	0													88	95	93					2																	241712609		2199	4299	6498	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1102C>A	2.37:g.241712609G>T	ENSP00000322791:p.Leu368Met		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L368M	ENST00000320389.7	37	c.1102	CCDS46561.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.08|17.08	3.298312|3.298312	0.60195|0.60195	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000428768|ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	.|T;T;T	.|0.76709	.|-0.91;-0.96;-1.04	3.83|3.83	2.92|2.92	0.33932|0.33932	.|Kinesin, motor domain (1);	.|0.000000	.|0.64402	.|U	.|0.000004	D|D	0.82857|0.82857	0.5128|0.5128	L|L	0.58925|0.58925	1.835|1.835	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;D	.|0.89917	.|1.0;1.0;0.979	.|D;D;P	.|0.91635	.|0.998;0.999;0.712	T|T	0.79543|0.79543	-0.1760|-0.1760	5|10	.|0.22109	.|T	.|0.4	.|.	11.5618|11.5618	0.50780|0.50780	0.0914:0.0:0.9086:0.0|0.0914:0.0:0.9086:0.0	.|.	.|368;368;368	.|F5H045;Q12756-2;Q12756	.|.;.;KIF1A_HUMAN	D|M	175|368	.|ENSP00000322791:L368M;ENSP00000438388:L368M;ENSP00000384231:L368M	.|ENSP00000322791:L368M	A|L	-|-	2|1	0|2	KIF1A|KIF1A	241361282|241361282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	3.958000|3.958000	0.56737|0.56737	1.688000|1.688000	0.51068|0.51068	0.491000|0.491000	0.48974|0.48974	GCT|CTG	KIF1A	-	NULL	ENSG00000130294		0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0	84	0	G	NM_138483		241712609	-1	tier1	-	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	241712609	G	T	241712609	3	4	78	1	0	0	0	0	1	0	0	0	8310	962	34	3	4110	3	KIF1A	2	241712609	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	6843110	241712609	1486764	57	20425											
CNTN4	152330	genome.wustl.edu	37	chr3	3072641	3072641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacaggctatctgctgctGcagacctgattgtaagaggt	9	11	13	8	0	1	3	0	1	1	2	1	4	1	4	1	3	3	5	1	3	2	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:3072641G>A	ENST00000397461.1	+	15	2149	c.1765G>A	c.(1765-1767)Gca>Aca	p.A589T	CNTN4_ENST00000418658.1_Missense_Mutation_p.A589T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A261T|CNTN4_ENST00000427331.1_Missense_Mutation_p.A589T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A261T|CNTN4_ENST00000358480.3_Missense_Mutation_p.A370T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	589					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATCTGCTGCTGCAGACCTGAT	0.428																																																	0													187	174	178					3																	3072641		2203	4300	6503	SO:0001583	missense	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1765G>A	3.37:g.3072641G>A	ENSP00000380602:p.Ala589Thr		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A589T	ENST00000397461.1	37	c.1765	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740320	0.30865	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.13	5.13	0.70059	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.253191	0.39687	N	0.001297	T	0.38931	0.1059	L	0.53561	1.675	0.40074	D	0.976054	P;P;P	0.45396	0.454;0.51;0.857	B;P;P	0.45946	0.347;0.479;0.498	T	0.17684	-1.0361	10	0.39692	T	0.17	.	18.9723	0.92719	0.0:0.0:1.0:0.0	.	588;589;589	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	T	589;589;589;370;261;261	ENSP00000396010:A589T;ENSP00000380602:A589T;ENSP00000413642:A589T;ENSP00000351267:A370T;ENSP00000380600:A261T;ENSP00000392077:A261T	ENSP00000351267:A370T	A	+	1	0	CNTN4	3047641	1.000000	0.71417	0.482000	0.27366	0.385000	0.30292	3.927000	0.56499	2.546000	0.85860	0.655000	0.94253	GCA	CNTN4	-	pfam_Ig_I-set,smart_Ig_sub	ENSG00000144619		0.428	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0	50	0	G			3072641	1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.677	A	A	3072641	G	A	3072641	3	1	78	1	0	0	0	0	1	0	0	0	3650	1319	46	3	1815	3	CNTN4	3	3072641	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		3072641	194949789	58	20426											
GRM7	2917	genome.wustl.edu	37	chr3	6903327	6903327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctggaagcgatgctctaCgccctggaccagatcaacag	11	6	12	12	2	2	1	1	0	1	1	2	4	2	3	2	3	4	2	2	3	3	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:6903327C>T	ENST00000357716.4	+	1	526	c.252C>T	c.(250-252)taC>taT	p.Y84Y	GRM7_ENST00000402647.2_Silent_p.Y84Y|GRM7_ENST00000403881.1_Silent_p.Y84Y|GRM7_ENST00000389336.4_Silent_p.Y84Y|GRM7_ENST00000486284.1_Silent_p.Y84Y	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	84					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CGATGCTCTACGCCCTGGACC	0.632																																																	0													40	35	37					3																	6903327		2203	4300	6503	SO:0001819	synonymous_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.252C>T	3.37:g.6903327C>T			Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.Y84	ENST00000357716.4	37	c.252	CCDS43042.1	3																																																																																			GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000196277		0.632	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0	79	0	C	NM_000844		6903327	1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	silent	37.78	28	17	SNP	1.000	T	T	6903327	C	T	6903327	2	4	78	1	0	0	0	0	0	0	0	1	6829	547	19	1		1	GRM7	3	6903327	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3830686	6903327	191119103	59	20427											
TATDN2	9797	genome.wustl.edu	37	chr3	10291029	10291029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgtcgcgttctggagggCccagcagccccaagcgcctg	5	6	14	16	4	1	0	0	0	1	0	2	1	1	1	4	2	4	2	4	2	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:10291029C>G	ENST00000287652.4	+	2	1196	c.145C>G	c.(145-147)Ccc>Gcc	p.P49A	TATDN2_ENST00000448281.2_Missense_Mutation_p.P49A|RP11-438J1.1_ENST00000450534.1_5'Flank	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	49					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TTCTGGAGGGCCCAGCAGCCC	0.667																																																	0													49	60	56					3																	10291029		2202	4300	6502	SO:0001583	missense	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.145C>G	3.37:g.10291029C>G	ENSP00000287652:p.Pro49Ala		Q3MIL9|Q5BKU0	Missense_Mutation	SNP	pfam_TatD_family	p.P49A	ENST00000287652.4	37	c.145	CCDS33698.1	3	.	.	.	.	.	.	.	.	.	.	C	0.007	-2.007113	0.00426	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.18960	2.18;2.18	4.16	-0.514	0.11958	.	.	.	.	.	T	0.04272	0.0118	N	0.00583	-1.355	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.41963	-0.9479	9	0.02654	T	1	-2.3925	7.5888	0.28008	0.1159:0.5849:0.2993:0.0	.	49	Q93075	TATD2_HUMAN	A	49	ENSP00000287652:P49A;ENSP00000408736:P49A	ENSP00000287652:P49A	P	+	1	0	TATDN2	10266029	0.119000	0.22226	0.419000	0.26584	0.002000	0.02628	-0.284000	0.08422	0.066000	0.16515	-0.300000	0.09419	CCC	TATDN2	-	NULL	ENSG00000157014		0.667	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	-	0	85	0	C	XM_376203		10291029	1	tier1	-	no_errors	ENST00000287652	ensembl	human	known	74_37	missense	12.04	95	13	SNP	0.471	G	G	10291029	C	G	10291029	3	3	78	1	0	0	0	0	1	0	0	0	15639	739	26	5	147	5	TATDN2	3	10291029	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3387702	10291029	187731401	60	20428											
GHRL	51738	genome.wustl.edu	37	chr3	10331825	10331825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtccagccagagcatgcCgaggagcaggaggctgcaga	12	3	15	11	1	0	2	0	0	0	2	1	5	1	4	3	3	5	4	3	3	1	0	rs540101934		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:10331825C>T	ENST00000335542.8	-	3	910	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	GHRL_ENST00000476283.1_5'Flank|GHRL_ENST00000457360.1_Missense_Mutation_p.G14S|GHRL_ENST00000422159.1_Missense_Mutation_p.G14S|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000449238.2_Intron|GHRLOS_ENST00000603771.1_RNA|SEC13_ENST00000492602.1_5'Flank|GHRL_ENST00000446937.2_Intron|GHRLOS_ENST00000605105.1_RNA|GHRL_ENST00000449554.2_Missense_Mutation_p.G14S|GHRL_ENST00000287656.7_Missense_Mutation_p.G14S|GHRL_ENST00000430179.1_Missense_Mutation_p.G14S|GHRL_ENST00000437422.2_Intron|GHRLOS_ENST00000605014.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000429122.1_Missense_Mutation_p.G14S|GHRL_ENST00000450603.1_Missense_Mutation_p.G14S			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	14					actin polymerization or depolymerization (GO:0008154)|activation of MAPK activity (GO:0000187)|adult feeding behavior (GO:0008343)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|cortisol secretion (GO:0043400)|decidualization (GO:0046697)|dendrite development (GO:0016358)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric acid secretion (GO:0001696)|glucose metabolic process (GO:0006006)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of locomotion (GO:0040013)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of synapse assembly (GO:0051965)|regulation of cell proliferation (GO:0042127)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to estrogen (GO:0043627)|response to hormone (GO:0009725)	axon (GO:0030424)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|ghrelin receptor binding (GO:0031768)|growth hormone-releasing hormone activity (GO:0016608)|protein tyrosine kinase activator activity (GO:0030296)			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGAGCATGCCGAGGAGCAGG	0.647													C|||	1	0.000199681	0	0	5008	,	,		18408	0.001		0	False		,,,				2504	0																0													32	32	32					3																	10331825		2203	4300	6503	SO:0001583	missense	0			AF296558	CCDS33700.1, CCDS46747.1, CCDS46748.1, CCDS46749.1, CCDS46750.1	3p26-p25	2013-02-26	2008-07-02		ENSG00000157017	ENSG00000157017		"Endogenous ligands"	18129	protein-coding gene	gene with protein product	"prepro-appetite regulatory hormone"	605353	"ghrelin, growth hormone secretagogue receptor ligand"			10930375, 10604470, 16284174	Standard	NR_024133		Approved	MTLRP, ghrelin, obestatin	uc010hdj.2	Q9UBU3	OTTHUMG00000155360	ENST00000335542.8:c.40G>A	3.37:g.10331825C>T	ENSP00000335074:p.Gly14Ser		A8CF34|A8CF38|A8CF42|A8DN29|A8DN30|Q86YP8|Q8TAT9|Q9H3R3	Missense_Mutation	SNP	pfam_Motilin_assoc,pfam_Motilin_ghrelin,prints_Preproghrelin	p.G14S	ENST00000335542.8	37	c.40	CCDS33700.1	3	.	.	.	.	.	.	.	.	.	.	C	3.482	-0.105729	0.06924	.	.	ENSG00000157017	ENST00000335542;ENST00000430179;ENST00000450603;ENST00000449554;ENST00000422159;ENST00000287656;ENST00000457360;ENST00000429122;ENST00000425479	T;T;T;T;T;T;T;T	0.33865	1.88;1.88;1.88;1.88;1.39;1.88;1.88;1.88	4.74	2.2	0.27929	.	0.167448	0.43110	N	0.000602	T	0.08670	0.0215	N	0.00500	-1.43	0.24335	N	0.994982	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.001;0.002;0.0	T	0.32798	-0.9893	10	0.13108	T	0.6	-4.075	5.9515	0.19248	0.0:0.2113:0.0:0.7887	.	14;14;14	Q9UBU3;Q9UBU3-2;Q86YP8	GHRL_HUMAN;.;.	S	14	ENSP00000335074:G14S;ENSP00000399922:G14S;ENSP00000389192:G14S;ENSP00000415521:G14S;ENSP00000405464:G14S;ENSP00000287656:G14S;ENSP00000391406:G14S;ENSP00000414819:G14S	ENSP00000287656:G14S	G	-	1	0	GHRL	10306825	0.716000	0.27956	0.918000	0.36340	0.041000	0.13682	0.056000	0.14256	0.331000	0.23511	-0.459000	0.05422	GGC	GHRL	-	NULL	ENSG00000157017		0.647	GHRL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GHRL	HGNC	protein_coding	OTTHUMT00000339625.1	-	0	23	0	C	NM_016362		10331825	-1	tier1	-	no_errors	ENST00000335542	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.986	T	T	10331825	C	T	10331825	3	4	78	1	0	0	0	0	1	0	0	0	6400	652	23	1	329	1	GHRL	3	10331825	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	40796	10331825	187690605	61	20429											
LSM3	27258	genome.wustl.edu	37	chr3	14225460	14225460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatcaacatttaaatatGatcttgggagatgtggaaga	15	13	10	3	0	2	4	1	2	1	2	2	6	2	5	0	2	1	0	0	2	6	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:14225460G>T	ENST00000306024.3	+	3	659	c.156G>T	c.(154-156)atG>atT	p.M52I		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	52					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						ATTTAAATATGATCTTGGGAG	0.294																																																	0													91	88	89					3																	14225460		2203	4299	6502	SO:0001583	missense	0			AF182289	CCDS2619.1	3p25.1	2012-08-15			ENSG00000170860	ENSG00000170860			17874	protein-coding gene	gene with protein product		607283				10369684	Standard	NM_014463		Approved	YLR438C, SMX4, USS2	uc003byn.3	P62310	OTTHUMG00000129838	ENST00000306024.3:c.156G>T	3.37:g.14225460G>T	ENSP00000302160:p.Met52Ile		Q6IAH0|Q9Y4Z1	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.M52I	ENST00000306024.3	37	c.156	CCDS2619.1	3	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460745	0.63513	.	.	ENSG00000170860	ENST00000306024	T	0.38887	1.11	5.45	5.45	0.79879	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.66297	2.02	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.47649	-0.9101	10	0.46703	T	0.11	-9.4345	19.2661	0.93985	0.0:0.0:1.0:0.0	.	52	P62310	LSM3_HUMAN	I	52	ENSP00000302160:M52I	ENSP00000302160:M52I	M	+	3	0	LSM3	14200464	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.844000	0.92147	2.719000	0.93026	0.655000	0.94253	ATG	LSM3	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000170860		0.294	LSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM3	HGNC	protein_coding	OTTHUMT00000252078.3	-	0	79	0	G	NM_014463		14225460	1	tier1	-	no_errors	ENST00000306024	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	14225460	G	T	14225460	3	4	78	1	0	0	0	0	1	0	0	0	9092	1290	45	3	166	3	LSM3	3	14225460	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3893635	14225460	183796970	62	20430											
RFTN1	23180	genome.wustl.edu	37	chr3	16419305	16419305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcaccccctgtggtgaaAgttctccaccatctccctct	6	12	6	17	0	4	1	1	1	3	0	6	1	4	1	5	1	1	2	5	1	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:16419305A>C	ENST00000334133.4	-	5	1018	c.746T>G	c.(745-747)cTt>cGt	p.L249R	RFTN1_ENST00000432519.1_Missense_Mutation_p.L213R	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	249					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTGGTGAAAGTTCTCCACC	0.612																																																	0													64	67	66					3																	16419305		2203	4300	6503	SO:0001583	missense	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.746T>G	3.37:g.16419305A>C	ENSP00000334153:p.Leu249Arg		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	NULL	p.L249R	ENST00000334133.4	37	c.746	CCDS33712.1	3	.	.	.	.	.	.	.	.	.	.	A	8.629	0.893119	0.17613	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036	T;T;T	0.44881	1.58;1.58;0.91	4.52	-1.13	0.09775	.	5.291170	0.00166	N	0.000000	T	0.31199	0.0789	L	0.40543	1.245	0.09310	N	1	B;P	0.39157	0.004;0.662	B;B	0.36289	0.003;0.221	T	0.10590	-1.0623	10	0.23302	T	0.38	4.791	4.4063	0.11411	0.4788:0.3255:0.1958:0.0	.	213;249	G3XAJ6;Q14699	.;RFTN1_HUMAN	R	213;249;249	ENSP00000403926:L213R;ENSP00000334153:L249R;ENSP00000403997:L249R	ENSP00000334153:L249R	L	-	2	0	RFTN1	16394309	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.122000	0.15687	-0.264000	0.09365	0.459000	0.35465	CTT	RFTN1	-	NULL	ENSG00000131378		0.612	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	-	0	47	0	A	NM_015150		16419305	-1	tier1	-	no_errors	ENST00000334133	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.000	C	C	16419305	A	C	16419305	3	2	78	1	0	0	0	0	1	0	0	0	13303	72	3	4	1014	4	RFTN1	3	16419305	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	2193845	16419305	181603125	63	20431											
KAT2B	8850	genome.wustl.edu	37	chr3	20153126	20153126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccacagttctgcgacaGtctacctcggtacgaaacca	10	8	9	14	4	2	0	0	0	2	0	3	2	2	0	3	1	5	2	3	1	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:20153126G>T	ENST00000263754.4	+	6	1345	c.890G>T	c.(889-891)aGt>aTt	p.S297I		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	297					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTCTGCGACAGTCTACCTCGG	0.488																																																	0													155	131	139					3																	20153126		2203	4300	6503	SO:0001583	missense	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.890G>T	3.37:g.20153126G>T	ENSP00000263754:p.Ser297Ile		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.S297I	ENST00000263754.4	37	c.890	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.399654	0.96030	.	.	ENSG00000114166	ENST00000263754	T	0.31769	1.48	5.7	5.7	0.88788	PCAF, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66256	-0.5969	10	0.87932	D	0	-17.9991	19.8232	0.96605	0.0:0.0:1.0:0.0	.	297	Q92831	KAT2B_HUMAN	I	297	ENSP00000263754:S297I	ENSP00000263754:S297I	S	+	2	0	KAT2B	20128130	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.734000	0.98822	2.684000	0.91462	0.650000	0.86243	AGT	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N	ENSG00000114166		0.488	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0	79	0	G	NM_003884		20153126	1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	20153126	G	T	20153126	3	4	78	1	0	0	0	0	1	0	0	0	8009	1029	36	3	912	3	KAT2B	3	20153126	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3733821	20153126	177869304	64	20432											
TOP2B	7155	genome.wustl.edu	37	chr3	25648815	25648815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatcatcatcatcatcaGcatcatcatcctcttcttct	9	16	2	14	0	11	0	8	0	3	0	12	0	12	0	1	0	1	1	1	0	0	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:25648815G>T	ENST00000264331.4	-	31	4144	c.4145C>A	c.(4144-4146)gCt>gAt	p.A1382D	TOP2B_ENST00000542520.1_Missense_Mutation_p.A234D|TOP2B_ENST00000540199.1_Missense_Mutation_p.A234D|TOP2B_ENST00000435706.2_Missense_Mutation_p.A1377D	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1382					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.A1377D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	atcatcatcagcatcatcatc	0.343																																																	1	Substitution - Missense(1)	stomach(1)											65	58	60					3																	25648815		1925	4107	6032	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4145C>A	3.37:g.25648815G>T	ENSP00000264331:p.Ala1382Asp		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.A1382D	ENST00000264331.4	37	c.4145		3	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939093	0.18281	.	.	ENSG00000077097	ENST00000542520;ENST00000435706;ENST00000264331;ENST00000540199	T;T;T;T	0.48522	0.81;0.89;0.89;0.81	5.1	4.2	0.49525	.	0.282980	0.37955	N	0.001868	T	0.28566	0.0707	N	0.19112	0.55	0.42674	D	0.993526	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09207	-1.0685	10	0.06625	T	0.88	-6.5522	12.431	0.55573	0.0:0.0:0.5633:0.4367	.	1382;1377	Q02880;Q02880-2	TOP2B_HUMAN;.	D	234;1377;1382;234	ENSP00000446023:A234D;ENSP00000396704:A1377D;ENSP00000264331:A1382D;ENSP00000437352:A234D	ENSP00000264331:A1382D	A	-	2	0	TOP2B	25623819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.872000	0.56085	1.423000	0.47198	0.561000	0.74099	GCT	TOP2B	-	NULL	ENSG00000077097		0.343	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding			0	63	0	G			25648815	-1			no_errors	ENST00000264331	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	25648815	G	T	25648815	3	4	78	1	0	0	0	0	1	0	0	0	16414	971	34	3	759	3	TOP2B	3	25648815	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5495689	25648815	172373615	65	20433											
CTDSPL	10217	genome.wustl.edu	37	chr3	37988615	37988615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttagctccttcttctgctgCttccgtgattacaatgtgga	6	16	8	11	1	2	1	0	1	2	0	4	2	4	2	2	1	4	3	2	1	3	5	rs1803396		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:37988615C>T	ENST00000273179.5	+	2	173	c.147C>T	c.(145-147)tgC>tgT	p.C49C	CTDSPL_ENST00000443503.2_Silent_p.C49C	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	49						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TCTTCTGCTGCTTCCGTGATT	0.562																																																	0													81	76	78					3																	37988615		2203	4300	6503	SO:0001819	synonymous_variant	0			D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	16890	protein-coding gene	gene with protein product	"small CTD phosphatase 3", "HYA22 protein", "RB protein serine phosphatase from chromosome 3"	608592	"chromosome 3 open reading frame 8"	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.147C>T	3.37:g.37988615C>T			Q3ZTU0|Q70KI4|Q7Z5Q2	Silent	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.C49	ENST00000273179.5	37	c.147	CCDS33734.1	3																																																																																			CTDSPL	-	NULL	ENSG00000144677		0.562	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL	HGNC	protein_coding	OTTHUMT00000342392.1	-	0	32	0	C	NM_005808		37988615	1	tier1	rs1803396	no_errors	ENST00000273179	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	37988615	C	T	37988615	2	4	78	1	0	0	0	0	0	0	0	1	4014	805	28	3		3	CTDSPL	3	37988615	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	12339800	37988615	160033815	66	20434											
DLEC1	9940	genome.wustl.edu	37	chr3	38134345	38134345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcatgtgcgacaactGccagataaaggagctggtga	13	8	11	9	1	2	2	2	1	0	1	2	4	2	3	1	2	4	1	1	2	3	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:38134345G>T	ENST00000308059.6	+	11	1751	c.1730G>T	c.(1729-1731)tGc>tTc	p.C577F	DLEC1_ENST00000452631.2_Missense_Mutation_p.C577F|DLEC1_ENST00000346219.3_Missense_Mutation_p.C577F					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TGCGACAACTGCCAGATAAAG	0.567																																																	0													97	97	97					3																	38134345		2038	4192	6230	SO:0001583	missense	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1730G>T	3.37:g.38134345G>T	ENSP00000308597:p.Cys577Phe			Missense_Mutation	SNP	superfamily_PapD-like	p.C577F	ENST00000308059.6	37	c.1730	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255107	0.80135	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.08193	3.13;3.12;3.35	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	T	0.03403	-1.1040	10	0.22706	T	0.39	-28.8484	16.9659	0.86285	0.0:0.0:1.0:0.0	.	577;577;577	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	F	577	ENSP00000308597:C577F;ENSP00000315914:C577F;ENSP00000410427:C577F	ENSP00000308597:C577F	C	+	2	0	DLEC1	38109349	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.234000	0.72326	2.589000	0.87451	0.632000	0.83419	TGC	DLEC1	-	NULL	ENSG00000008226		0.567	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0	50	0	G	NM_007337		38134345	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	38134345	G	T	38134345	3	4	78	1	0	0	0	0	1	0	0	0	4566	1319	46	3	1772	3	DLEC1	3	38134345	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	145730	38134345	159888085	67	20435											
SLC22A13	9390	genome.wustl.edu	37	chr3	38317828	38317828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggggaagatggccacaGctgctgcctttaccatctcc	7	10	12	12	0	1	1	0	0	1	1	2	2	1	2	4	4	4	2	4	4	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:38317828G>A	ENST00000311856.4	+	8	1337	c.1288G>A	c.(1288-1290)Gct>Act	p.A430T		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	430					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GATGGCCACAGCTGCTGCCTT	0.597																																																	0													148	119	129					3																	38317828		2203	4300	6503	SO:0001583	missense	0			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1288G>A	3.37:g.38317828G>A	ENSP00000310241:p.Ala430Thr		B2RCV9|Q8IYG1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A430T	ENST00000311856.4	37	c.1288	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	G	0.975	-0.698924	0.03279	.	.	ENSG00000172940	ENST00000311856	T	0.74947	-0.89	4.8	-3.51	0.04696	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.531595	0.21987	N	0.066207	T	0.48003	0.1476	N	0.17723	0.515	0.26478	N	0.975152	B;B	0.22080	0.032;0.064	B;B	0.27262	0.074;0.078	T	0.47983	-0.9074	10	0.02654	T	1	.	7.3642	0.26764	0.1713:0.0:0.2528:0.5759	.	430;430	Q9Y226-2;Q9Y226	.;S22AD_HUMAN	T	430	ENSP00000310241:A430T	ENSP00000310241:A430T	A	+	1	0	SLC22A13	38292832	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.050000	0.14120	-0.329000	0.08527	-0.989000	0.02550	GCT	SLC22A13	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000172940		0.597	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2	-	0	83	0	G	NM_004256		38317828	1	tier1	-	no_errors	ENST00000311856	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.000	A	A	38317828	G	A	38317828	3	1	78	1	0	0	0	0	1	0	0	0	14489	971	34	3	1318	3	SLC22A13	3	38317828	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	183483	38317828	159704602	68	20436											
CDC25A	993	genome.wustl.edu	37	chr3	48228201	48228201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacttaaatacctgaatctGttgactcggaggagcccatt	12	11	9	9	1	1	3	0	2	1	1	2	5	1	5	2	2	2	1	2	2	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:48228201G>A	ENST00000302506.3	-	2	647	c.239C>T	c.(238-240)aCa>aTa	p.T80I	CDC25A_ENST00000351231.3_Missense_Mutation_p.T80I	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	80					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ACCTGAATCTGTTGACTCGGA	0.428																																																	0													88	76	80					3																	48228201		2203	4298	6501	SO:0001583	missense	0			M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"Protein tyrosine phosphatases / Class III Cys-based PTPs"	1725	protein-coding gene	gene with protein product		116947	"cell division cycle 25A", "cell division cycle 25 homolog A (S. cerevisiae)", "cell division cycle 25 homolog A (S. pombe)"			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.239C>T	3.37:g.48228201G>A	ENSP00000303706:p.Thr80Ile		Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.T80I	ENST00000302506.3	37	c.239	CCDS2760.1	3	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412910	0.62511	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342;ENST00000437972	T;T;T;T	0.48836	2.43;2.39;1.83;0.8	5.95	5.95	0.96441	.	0.098166	0.64402	D	0.000001	T	0.61110	0.2321	L	0.47716	1.5	0.41792	D	0.989871	D;D	0.69078	0.997;0.991	D;P	0.65010	0.931;0.854	T	0.60777	-0.7196	10	0.59425	D	0.04	.	15.8933	0.79318	0.0:0.0:1.0:0.0	.	80;80	P30304-2;P30304	.;MPIP1_HUMAN	I	80	ENSP00000303706:T80I;ENSP00000343166:T80I;ENSP00000416483:T80I;ENSP00000404285:T80I	ENSP00000303706:T80I	T	-	2	0	CDC25A	48203205	0.997000	0.39634	0.517000	0.27799	0.413000	0.31143	5.307000	0.65762	2.824000	0.97209	0.655000	0.94253	ACA	CDC25A	-	NULL	ENSG00000164045		0.428	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25A	HGNC	protein_coding	OTTHUMT00000257512.2		0	63	0	G	NM_001789		48228201	-1			no_errors	ENST00000302506	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.812	A	A	48228201	G	A	48228201	3	1	78	1	0	0	0	0	1	0	0	0	3069	1377	48	3	1391	3	CDC25A	3	48228201	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	9910373	48228201	149794229	69	20437											
BSN	8927	genome.wustl.edu	37	chr3	49692822	49692822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccttctatggtcccCgggaccctgagcctcctgag	5	8	11	17	1	1	2	0	2	1	0	3	3	3	3	7	2	2	1	7	2	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:49692822C>T	ENST00000296452.4	+	5	5947	c.5833C>T	c.(5833-5835)Cgg>Tgg	p.R1945W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1945					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTATGGTCCCCGGGACCCTGA	0.687																																																	0													26	28	27					3																	49692822		2203	4297	6500	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5833C>T	3.37:g.49692822C>T	ENSP00000296452:p.Arg1945Trp		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R1945W	ENST00000296452.4	37	c.5833	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	9.152	1.016572	0.19355	.	.	ENSG00000164061	ENST00000296452	T	0.19806	2.12	5.43	3.56	0.40772	.	0.280236	0.33834	N	0.004509	T	0.39911	0.1096	L	0.57536	1.79	0.31215	N	0.698219	D	0.89917	1.0	D	0.65573	0.936	T	0.49293	-0.8955	10	0.87932	D	0	-10.8043	13.5201	0.61563	0.6012:0.3988:0.0:0.0	.	1945	Q9UPA5	BSN_HUMAN	W	1945	ENSP00000296452:R1945W	ENSP00000296452:R1945W	R	+	1	2	BSN	49667826	0.005000	0.15991	0.831000	0.32960	0.637000	0.38172	1.689000	0.37700	0.611000	0.30052	0.561000	0.74099	CGG	BSN	-	NULL	ENSG00000164061		0.687	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1		0	35	0	C	NM_003458		49692822	1			no_errors	ENST00000296452	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.660	T	T	49692822	C	T	49692822	3	4	78	1	0	0	0	0	1	0	0	0	1534	643	23	1	5851	1	BSN	3	49692822	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	1464621	49692822	148329608	70	20438											
PDE12	201626	genome.wustl.edu	37	chr3	57545406	57545406	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactttaatagtacaccatCaacaggaatgtatcattttg	14	13	7	7	0	2	0	2	0	0	0	2	2	2	2	1	2	2	2	1	2	6	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:57545406C>A	ENST00000311180.8	+	3	1608	c.1505C>A	c.(1504-1506)tCa>tAa	p.S502*	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	502					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGTACACCATCAACAGGAATG	0.413																																					Colon(125;308 1634 19198 50622 50717)												0													119	115	116					3																	57545406		2203	4300	6503	SO:0001587	stop_gained	0			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"2'-phosphodiesterase"					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1505C>A	3.37:g.57545406C>A	ENSP00000309142:p.Ser502*		B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.S502*	ENST00000311180.8	37	c.1505	CCDS33772.1	3	.	.	.	.	.	.	.	.	.	.	C	37	6.243971	0.97408	.	.	ENSG00000174840	ENST00000311180	.	.	.	5.95	5.08	0.68730	.	0.322097	0.33772	N	0.004574	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-9.6609	10.0434	0.42173	0.1367:0.7947:0.0:0.0686	.	.	.	.	X	502	.	ENSP00000309142:S502X	S	+	2	0	PDE12	57520446	1.000000	0.71417	0.796000	0.32109	0.921000	0.55340	4.623000	0.61247	1.529000	0.49120	0.563000	0.77884	TCA	PDE12	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174840		0.413	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE12	HGNC	protein_coding	OTTHUMT00000351440.2	-	0	45	0	C	NM_177966		57545406	1	tier1	-	no_errors	ENST00000311180	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.775	A	A	57545406	C	A	57545406	4	1	78	1	0	0	0	0	0	1	0	0	11671	838	29	3	1515	3	PDE12	3	57545406	Nonsense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	7852584	57545406	140477024	71	20439											
CNTN3	5067	genome.wustl.edu	37	chr3	74334638	74334638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacccccattccagtacCgcacctggtgggcggaagac	8	7	10	16	2	0	1	0	0	0	1	2	2	2	2	6	3	1	2	6	3	2	3	rs199931035	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:74334638C>A	ENST00000263665.6	-	19	2549	c.2522G>T	c.(2521-2523)cGg>cTg	p.R841L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	841	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCCAGTACCGCACCTGGTG	0.478																																																	0													132	120	124					3																	74334638		2203	4300	6503	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2522G>T	3.37:g.74334638C>A	ENSP00000263665:p.Arg841Leu		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R841L	ENST00000263665.6	37	c.2522	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893106	0.33442	.	.	ENSG00000113805	ENST00000263665	T	0.58060	0.36	5.28	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.199870	0.43579	D	0.000545	T	0.47210	0.1433	L	0.53729	1.69	0.47441	D	0.999426	B	0.02656	0.0	B	0.09377	0.004	T	0.38564	-0.9655	10	0.23302	T	0.38	.	14.0478	0.64714	0.0:0.9269:0.0:0.0731	.	841	Q9P232	CNTN3_HUMAN	L	841	ENSP00000263665:R841L	ENSP00000263665:R841L	R	-	2	0	CNTN3	74417328	0.001000	0.12720	1.000000	0.80357	0.952000	0.60782	0.308000	0.19314	1.341000	0.45600	0.655000	0.94253	CGG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.478	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1		0	46	0	C	NM_020872		74334638	-1			no_errors	ENST00000263665	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.986	A	A	74334638	C	A	74334638	3	1	78	1	0	0	0	0	1	0	0	0	3649	652	23	2	580	2	CNTN3	3	74334638	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	16789232	74334638	123687792	72	20440											
TMPRSS7	344805	genome.wustl.edu	37	chr3	111794282	111794282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatctgcctactgtggtgCctcagtcatctccagggagt	6	12	12	11	0	4	0	2	0	2	0	5	2	4	2	3	3	3	0	3	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:111794282C>T	ENST00000452346.2	+	15	1901	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.A507V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	633	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TACTGTGGTGCCTCAGTCATC	0.587																																																	0													150	160	157					3																	111794282		2010	4167	6177	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1898C>T	3.37:g.111794282C>T	ENSP00000398236:p.Ala633Val		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.A507V	ENST00000452346.2	37	c.1520		3	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101883	0.56183	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.63417	-0.04;-0.04	5.71	5.71	0.89125	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.82697	0.5093	M	0.93594	3.435	0.49915	D	0.999837	D;D	0.69078	0.996;0.997	D;D	0.65987	0.938;0.94	D	0.86654	0.1900	10	0.87932	D	0	.	13.4187	0.60985	0.0:0.7348:0.2652:0.0	.	633;507	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	V	633;621;607;507	ENSP00000398236:A633V;ENSP00000411645:A507V	ENSP00000411645:A507V	A	+	2	0	TMPRSS7	113276972	1.000000	0.71417	0.998000	0.56505	0.074000	0.17049	4.279000	0.58953	2.669000	0.90835	0.655000	0.94253	GCC	TMPRSS7	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000176040		0.587	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2		0	33	0	C	XM_293599		111794282	1			no_errors	ENST00000419127	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	111794282	C	T	111794282	3	4	78	1	0	0	0	0	1	0	0	0	16299	739	26	3	1566	3	TMPRSS7	3	111794282	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	37459644	111794282	86228148	73	20441											
SLC9A10	285335	genome.wustl.edu	37	chr3	111888112	111888112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttttagccacattttttGtttaatgagaggagagcatt	12	16	9	4	0	0	2	0	1	0	2	0	4	0	2	1	1	2	3	1	1	3	8			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:111888112G>T	ENST00000305815.5	-	24	3235	c.2983C>A	c.(2983-2985)Caa>Aaa	p.Q995K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.Q947K	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	995					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CACATTTTTTGTTTAATGAGA	0.333																																																	0													103	100	101					3																	111888112		2203	4300	6503	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2983C>A	3.37:g.111888112G>T	ENSP00000306627:p.Gln995Lys		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q995K	ENST00000305815.5	37	c.2983	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359582	0.24598	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.39229	1.09;1.09	5.74	-0.627	0.11541	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.563805	0.17347	N	0.177553	T	0.16896	0.0406	N	0.08118	0	0.09310	N	0.999999	B;B	0.18166	0.018;0.026	B;B	0.19666	0.026;0.006	T	0.10200	-1.0640	10	0.41790	T	0.15	0.1652	1.2833	0.02045	0.395:0.3187:0.1296:0.1567	.	947;995	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	K	995;947	ENSP00000306627:Q995K;ENSP00000420688:Q947K	ENSP00000306627:Q995K	Q	-	1	0	SLC9A10	113370802	0.997000	0.39634	0.068000	0.19968	0.390000	0.30446	1.311000	0.33562	-0.330000	0.08514	0.536000	0.68110	CAA	SLC9C1	-	superfamily_cNMP-bd-like	ENSG00000172139		0.333	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	-	0	47	0	G	NM_183061		111888112	-1	tier1	-	no_errors	ENST00000305815	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.614	T	T	111888112	G	T	111888112	3	4	78	1	0	0	0	0	1	0	0	0	14755	1386	48	3	574	3	SLC9A10	3	111888112	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	93830	111888112	86134318	74	20442											
PLOD2	5352	genome.wustl.edu	37	chr3	145838965	145838965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacttctttcattaatCtcactttctggccccctcca	7	15	3	16	0	4	1	2	1	3	0	6	1	5	1	4	1	0	0	4	1	1	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:145838965C>A	ENST00000360060.3	-	3	449	c.272G>T	c.(271-273)aGa>aTa	p.R91I	PLOD2_ENST00000494950.1_Missense_Mutation_p.R36I|PLOD2_ENST00000282903.5_Missense_Mutation_p.R91I	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	91					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TTTCATTAATCTCACTTTCTG	0.383																																																	0													170	149	156					3																	145838965		2203	4300	6503	SO:0001583	missense	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"lysyl hydroxlase 2"	601865	"procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.272G>T	3.37:g.145838965C>A	ENSP00000353170:p.Arg91Ile		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R91I	ENST00000360060.3	37	c.272	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849717	0.91277	.	.	ENSG00000152952	ENST00000282903;ENST00000360060;ENST00000494950;ENST00000469350	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.41373	0.1156	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.996	D;D;D	0.91635	0.993;0.999;0.977	T	0.29518	-1.0009	10	0.72032	D	0.01	-17.9821	18.4785	0.90802	0.0:1.0:0.0:0.0	.	36;91;91	E7ETU9;O00469;O00469-2	.;PLOD2_HUMAN;.	I	91;91;36;63	ENSP00000282903:R91I;ENSP00000353170:R91I;ENSP00000420094:R36I;ENSP00000419963:R63I	ENSP00000282903:R91I	R	-	2	0	PLOD2	147321655	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.432000	0.73400	2.695000	0.91970	0.579000	0.79373	AGA	PLOD2	-	NULL	ENSG00000152952		0.383	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1		0	44	0	C	NM_000935		145838965	-1			no_errors	ENST00000282903	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	145838965	C	A	145838965	3	1	78	1	0	0	0	0	1	0	0	0	12141	913	32	3	2076	3	PLOD2	3	145838965	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	33950853	145838965	52183465	75	20443											
LEKR1	389170	genome.wustl.edu	37	chr3	156570674	156570674	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagatgaaattttatcaaGgaagtgtagatcgtgaaaag	18	10	11	2	1	1	4	1	2	0	2	2	6	1	5	0	1	0	1	0	1	8	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:156570674G>T	ENST00000470811.1	+	0	280				LEKR1_ENST00000483177.1_Nonsense_Mutation_p.G56*|LEKR1_ENST00000356539.4_Nonsense_Mutation_p.G56*|LEKR1_ENST00000489350.1_Intron|LEKR1_ENST00000491763.1_Nonsense_Mutation_p.G56*|LEKR1_ENST00000498839.1_Nonsense_Mutation_p.G56*|LEKR1_ENST00000477399.1_Nonsense_Mutation_p.G56*			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATTTTATCAAGGAAGTGTAGA	0.338																																																	0													159	129	138					3																	156570674		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-1056G>T	3.37:g.156570674G>T				Nonsense_Mutation	SNP	superfamily_Ribosomal_L29	p.G56*	ENST00000470811.1	37	c.166		3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445943	0.84101	.	.	ENSG00000197980;ENSG00000197980;ENSG00000197980;ENSG00000178110	ENST00000498839;ENST00000483177;ENST00000477399;ENST00000356539	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0713	14.3012	0.66355	0.0713:0.0:0.9287:0.0	.	.	.	.	X	56	.	.	G	+	1	0	RP11-6F2.7;LEKR1	158053368	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.328000	0.65887	1.337000	0.45525	0.585000	0.79938	GGA	LEKR1	-	NULL	ENSG00000197980		0.338	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3		0	84	0	G	NM_001004316		156570674	1			no_errors	ENST00000356539	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T	T	156570674	G	T	156570674	1	4	78	0	1	0	0	0	0	0	0	0	8745	1001	35	3		3	LEKR1	3	156570674	5'UTR	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10731709	156570674	41451756	76	20444											
LRRC31	79782	genome.wustl.edu	37	chr3	169578432	169578432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagatgcatttgctgaGtgatggaaaggagggttcca	11	10	14	6	0	0	4	0	3	0	1	1	6	1	6	2	3	2	3	2	3	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:169578432G>T	ENST00000316428.5	-	3	461	c.404C>A	c.(403-405)aCt>aAt	p.T135N	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.T135N|LRRC31_ENST00000264676.5_Intron	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	135										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CATTTGCTGAGTGATGGAAAG	0.458																																																	0													148	139	142					3																	169578432		1949	4152	6101	SO:0001583	missense	0			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.404C>A	3.37:g.169578432G>T	ENSP00000325978:p.Thr135Asn		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.T135N	ENST00000316428.5	37	c.404	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897468	0.33535	.	.	ENSG00000114248	ENST00000316428;ENST00000523069	T;T	0.61859	0.07;0.07	5.24	3.42	0.39159	.	0.176594	0.49305	D	0.000154	T	0.70413	0.3221	M	0.77313	2.365	0.09310	N	0.999999	D	0.71674	0.998	P	0.62382	0.901	T	0.62053	-0.6935	10	0.30854	T	0.27	-6.2587	11.9035	0.52697	0.147:0.0:0.853:0.0	.	135	Q6UY01	LRC31_HUMAN	N	135	ENSP00000325978:T135N;ENSP00000429145:T135N	ENSP00000325978:T135N	T	-	2	0	LRRC31	171061126	0.503000	0.26115	0.717000	0.30585	0.026000	0.11368	2.145000	0.42207	1.194000	0.43101	0.650000	0.86243	ACT	LRRC31	-	NULL	ENSG00000114248		0.458	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1		0	49	0	G	NM_024727		169578432	-1			no_errors	ENST00000316428	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.184	T	T	169578432	G	T	169578432	3	4	78	1	0	0	0	0	1	0	0	0	9021	1029	36	3	1282	3	LRRC31	3	169578432	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	13007758	169578432	28443998	77	20445											
FNDC3B	64778	genome.wustl.edu	37	chr3	171969173	171969173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcctcaacagccctccttCttctatctacaaaagcagct	10	10	4	17	1	4	0	1	0	3	0	5	0	5	0	4	0	5	2	4	0	5	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:171969173C>T	ENST00000336824.4	+	6	731	c.632C>T	c.(631-633)tCt>tTt	p.S211F	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S211F|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S211F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	211					cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGCCCTCCTTCTTCTATCTAC	0.537																																																	0													72	72	72					3																	171969173		2203	4300	6503	SO:0001583	missense	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"Fibronectin type III domain containing"	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.632C>T	3.37:g.171969173C>T	ENSP00000338523:p.Ser211Phe		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S211F	ENST00000336824.4	37	c.632	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803609	0.90623	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957;ENST00000443501	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.65	5.65	0.86999	.	0.101382	0.64402	D	0.000001	T	0.55081	0.1898	L	0.58669	1.825	0.80722	D	1	D;B	0.55385	0.971;0.312	P;B	0.58454	0.839;0.126	T	0.54309	-0.8313	10	0.62326	D	0.03	-20.7493	19.7111	0.96096	0.0:1.0:0.0:0.0	.	211;211	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	F	211;211;211;184	ENSP00000411242:S211F;ENSP00000338523:S211F;ENSP00000389094:S211F;ENSP00000389064:S184F	ENSP00000338523:S211F	S	+	2	0	FNDC3B	173451867	1.000000	0.71417	0.556000	0.28293	0.918000	0.54935	7.251000	0.78297	2.664000	0.90586	0.491000	0.48974	TCT	FNDC3B	-	NULL	ENSG00000075420		0.537	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	-	0	83	0	C	NM_022763		171969173	1	tier1	-	no_errors	ENST00000336824	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T	T	171969173	C	T	171969173	3	4	78	1	0	0	0	0	1	0	0	0	5992	913	32	3	650	3	FNDC3B	3	171969173	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2390741	171969173	26053257	78	20446											
C3orf59	151963	genome.wustl.edu	37	chr3	192516538	192516538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataattggggcacatcttGttgaccagacagtgttgcag	12	11	11	7	0	1	2	0	1	1	1	1	2	1	2	1	2	1	4	1	2	2	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:192516538G>T	ENST00000392452.2	-	2	1433	c.1113C>A	c.(1111-1113)aaC>aaA	p.N371K		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	371							protein complex binding (GO:0032403)	p.N369K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GGCACATCTTGTTGACCAGAC	0.532																																																	1	Substitution - Missense(1)	lung(1)											79	63	68					3																	192516538		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 59"	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1113C>A	3.37:g.192516538G>T	ENSP00000376246:p.Asn371Lys		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.N371K	ENST00000392452.2	37	c.1113	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910270	0.33721	.	.	ENSG00000180611	ENST00000392452	T	0.07216	3.21	5.28	5.28	0.74379	.	0.104731	0.64402	D	0.000002	T	0.09291	0.0229	L	0.50333	1.59	0.80722	D	1	B	0.25772	0.134	B	0.23419	0.046	T	0.07809	-1.0753	10	0.05436	T	0.98	.	17.9275	0.88988	0.0:0.0:1.0:0.0	.	371	Q8IYB1	M21D2_HUMAN	K	371	ENSP00000376246:N371K	ENSP00000376246:N371K	N	-	3	2	MB21D2	193999232	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.072000	0.57563	2.455000	0.83008	0.655000	0.94253	AAC	MB21D2	-	pfam_Mab-21_dom	ENSG00000180611		0.532	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1		0	31	0	G	NM_178496		192516538	-1			no_errors	ENST00000392452	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	192516538	G	T	192516538	3	4	78	1	0	0	0	0	1	0	0	0	2244	1368	48	3	366	3	C3orf59	3	192516538	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	20547365	192516538	5505892	79	20447											
GP5	2814	genome.wustl.edu	37	chr3	194118889	194118889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctagcgcggagatgcgCgccacgtcgccccccgagca	7	3	14	17	7	0	1	0	0	0	1	1	3	0	1	5	2	3	1	5	2	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706																																																	0													29	30	30					3																	194118889		2190	4286	6476	SO:0001819	synonymous_variant	0			L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"CD molecules"	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.123G>A	3.37:g.194118889C>T			D1MER9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A41	ENST00000401815.1	37	c.123	CCDS3307.1	3																																																																																			GP5	-	NULL	ENSG00000178732		0.706	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP5	HGNC	protein_coding	OTTHUMT00000317710.1		0	27	0	C	NM_004488		194118889	-1			no_errors	ENST00000323007	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.000	T	T	194118889	C	T	194118889	2	4	78	1	0	0	0	0	0	0	0	1	6609	755	27	1		1	GP5	3	194118889	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	1602351	194118889	3903541	80	20448											
ZNF732	654254	genome.wustl.edu	37	chr4	265103	265103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtttactcaggtatgTggaccatccaaaggctttgc	9	14	9	9	0	1	0	1	0	0	0	2	1	2	1	2	3	2	3	2	3	4	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:265103T>C	ENST00000419098.1	-	4	1553	c.1543A>G	c.(1543-1545)Aca>Gca	p.T515A		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						CTCAGGTATGTGGACCATCCA	0.388																																																	0													74	66	68					4																	265103		692	1591	2283	SO:0001583	missense	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1543A>G	4.37:g.265103T>C	ENSP00000415774:p.Thr515Ala			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T515A	ENST00000419098.1	37	c.1543	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	T	4.709	0.131914	0.08981	.	.	ENSG00000186777	ENST00000419098	T	0.07114	3.22	0.977	-1.95	0.07548	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04497	0.0123	N	0.16478	0.41	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.38200	-0.9672	9	0.56958	D	0.05	.	4.0207	0.09664	0.4203:0.0:0.0:0.5797	.	515	B4DXR9	ZN732_HUMAN	A	515	ENSP00000415774:T515A	ENSP00000415774:T515A	T	-	1	0	ZNF732	255103	0.000000	0.05858	0.008000	0.14137	0.008000	0.06430	-1.147000	0.03188	-0.820000	0.04318	-0.903000	0.02851	ACA	ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.388	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2		0	56	0	T	NM_001137608		265103	-1			no_errors	ENST00000419098	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.001	C	C	265103	T	C	265103	3	2	78	1	0	0	0	0	1	0	0	0	18171	1696	59	4	218	4	ZNF732	4	265103	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09		265103	190889173	81	20449											
ZFYVE28	57732	genome.wustl.edu	37	chr4	2306473	2306473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcggcctcctgggtggCgaccgcagagtccagggaag	7	4	18	12	4	0	1	0	0	0	1	2	4	2	2	4	5	0	1	4	5	1	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:2306473C>T	ENST00000290974.2	-	8	1933	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A502T|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A462T|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	532					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TCCTGGGTGGCGACCGCAGAG	0.652																																																	0													33	37	36					4																	2306473		2201	4284	6485	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"Zinc fingers, FYVE domain containing"	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1594G>A	4.37:g.2306473C>T	ENSP00000290974:p.Ala532Thr		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.A532T	ENST00000290974.2	37	c.1594	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	1.607	-0.524936	0.04141	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312	T;T;T	0.57595	0.39;0.39;0.39	4.02	-8.03	0.01114	.	0.981567	0.08354	N	0.958824	T	0.16214	0.0390	N	0.02391	-0.57	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.18808	-1.0325	10	0.02654	T	1	.	5.6199	0.17451	0.4087:0.122:0.0:0.4693	.	502;532	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	T	532;502;462	ENSP00000290974:A532T;ENSP00000425706:A502T;ENSP00000426299:A462T	ENSP00000290974:A532T	A	-	1	0	ZFYVE28	2276271	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.381000	0.07417	-2.234000	0.00715	-0.861000	0.03010	GCC	ZFYVE28	-	NULL	ENSG00000159733		0.652	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	-	0	36	0	C	XM_035371		2306473	-1	tier1	-	no_errors	ENST00000290974	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.000	T	T	2306473	C	T	2306473	3	4	78	1	0	0	0	0	1	0	0	0	17718	768	27	1	1093	1	ZFYVE28	4	2306473	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2041370	2306473	188847803	82	20450											
NOP14	8602	genome.wustl.edu	37	chr4	2956170	2956170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttctcttgttttgacttgGcaatgagctcttcaatcagc	7	16	7	11	0	4	2	2	2	2	0	5	2	4	2	1	1	2	3	1	1	2	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:2956170G>A	ENST00000314262.6	-	4	641	c.593C>T	c.(592-594)gCc>gTc	p.A198V	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.A198V|NOP14_ENST00000398071.4_Missense_Mutation_p.A198V|NOP14_ENST00000416614.2_Missense_Mutation_p.A198V	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	198					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTTTGACTTGGCAATGAGCTC	0.483																																																	0													186	179	181					4																	2956170		2203	4300	6503	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.593C>T	4.37:g.2956170G>A	ENSP00000315674:p.Ala198Val		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.A198V	ENST00000314262.6	37	c.593	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802144	0.50315	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.26	3.52	0.40303	.	0.377447	0.28317	N	0.015788	T	0.51770	0.1694	M	0.74389	2.26	0.37722	D	0.924968	B;P	0.46277	0.437;0.875	B;P	0.51895	0.383;0.683	T	0.60915	-0.7168	10	0.87932	D	0	-21.2544	8.3446	0.32266	0.2392:0.0:0.7608:0.0	.	198;198	E9PFK5;P78316	.;NOP14_HUMAN	V	198;198;198;198;97	ENSP00000405068:A198V;ENSP00000315674:A198V;ENSP00000427415:A198V;ENSP00000381146:A198V	ENSP00000315674:A198V	A	-	2	0	NOP14	2925968	0.997000	0.39634	0.675000	0.29917	0.936000	0.57629	2.638000	0.46562	1.225000	0.43566	0.655000	0.94253	GCC	NOP14	-	pfam_Nop14	ENSG00000087269		0.483	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0	122	0	G	NM_003703		2956170	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.593	A	A	2956170	G	A	2956170	3	1	78	1	0	0	0	0	1	0	0	0	10575	1203	42	3	2040	3	NOP14	4	2956170	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	649697	2956170	188198106	83	20451											
TLR1	7096	genome.wustl.edu	37	chr4	38798612	38798612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggtctgggtccactggCacaccatcctgagataccag	8	7	12	14	1	1	1	0	1	1	1	3	2	3	1	5	3	1	1	5	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:38798612C>T	ENST00000502213.2	-	3	2070	c.1841G>A	c.(1840-1842)tGc>tAc	p.C614Y	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.C614Y			Q15399	TLR1_HUMAN	toll-like receptor 1	614					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GGTCCACTGGCACACCATCCT	0.527																																					GBM(5;216 373 40795 46382)												0													78	90	86					4																	38798612		2203	4300	6503	SO:0001583	missense	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1841G>A	4.37:g.38798612C>T	ENSP00000421259:p.Cys614Tyr		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.C614Y	ENST00000502213.2	37	c.1841	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	C	1.644	-0.515660	0.04200	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.01933	4.55;4.55	5.43	-2.46	0.06461	.	0.618723	0.16627	N	0.206201	T	0.01421	0.0046	L	0.29908	0.895	0.31551	N	0.658727	B	0.02656	0.0	B	0.06405	0.002	T	0.50092	-0.8868	10	0.02654	T	1	.	8.5383	0.33377	0.5055:0.3786:0.0:0.1159	.	614	Q15399	TLR1_HUMAN	Y	614	ENSP00000354932:C614Y;ENSP00000421259:C614Y	ENSP00000354932:C614Y	C	-	2	0	TLR1	38475007	0.993000	0.37304	0.274000	0.24659	0.897000	0.52465	1.287000	0.33284	-0.413000	0.07507	-0.890000	0.02929	TGC	TLR1	-	pirsf_Toll-like_receptor	ENSG00000174125		0.527	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3		0	70	0	C			38798612	-1			no_errors	ENST00000308979	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.999	T	T	38798612	C	T	38798612	3	4	78	1	0	0	0	0	1	0	0	0	15996	710	25	3	523	3	TLR1	4	38798612	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	35842442	38798612	152355664	84	20452											
MAPK10	5602	genome.wustl.edu	37	chr4	86950424	86950424	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattacttccttgtagataAgttctgtaagaaacagctgt	12	15	7	7	0	2	2	1	0	1	2	3	2	3	2	1	0	3	4	1	0	5	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:86950424A>C	ENST00000359221.3	-	13	1704	c.1178T>G	c.(1177-1179)cTt>cGt	p.L393R	MAPK10_ENST00000449047.2_Missense_Mutation_p.L248R|MAPK10_ENST00000395161.2_Missense_Mutation_p.L393R|MAPK10_ENST00000395160.3_Missense_Mutation_p.L248R|MAPK10_ENST00000395169.3_Missense_Mutation_p.L355R|MAPK10_ENST00000395157.3_Missense_Mutation_p.L248R|MAPK10_ENST00000395166.1_Missense_Mutation_p.L355R|MAPK10_ENST00000361569.2_Missense_Mutation_p.L393R			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	393					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTTGTAGATAAGTTCTGTAAG	0.343																																																	0													164	156	158					4																	86950424		2203	4300	6503	SO:0001583	missense	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1178T>G	4.37:g.86950424A>C	ENSP00000352157:p.Leu393Arg		A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.L393R	ENST00000359221.3	37	c.1178	CCDS34026.1	4	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162416	0.78226	.	.	ENSG00000109339	ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.96	5.96	0.96718	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.54143	0.1840	M	0.83223	2.63	0.80722	D	1	B;B;B;B;B	0.34399	0.224;0.452;0.049;0.049;0.079	B;B;B;B;B	0.39590	0.126;0.304;0.047;0.047;0.117	T	0.58487	-0.7628	10	0.56958	D	0.05	-14.1366	16.0984	0.81148	1.0:0.0:0.0:0.0	.	279;248;355;393;393	B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.;.;.;.;MK10_HUMAN	R	355;393;248;393;355;248;248;393	ENSP00000378598:L355R;ENSP00000352157:L393R;ENSP00000378586:L248R;ENSP00000355297:L393R;ENSP00000378595:L355R;ENSP00000378589:L248R;ENSP00000414469:L248R;ENSP00000378590:L393R	ENSP00000352157:L393R	L	-	2	0	MAPK10	87169448	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.053000	0.89449	2.278000	0.76064	0.533000	0.62120	CTT	MAPK10	-	superfamily_Kinase-like_dom	ENSG00000109339		0.343	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2	-	0	40	0	A			86950424	-1	tier1	-	no_errors	ENST00000359221	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	C	C	86950424	A	C	86950424	3	2	78	1	0	0	0	0	1	0	0	0	9310	72	3	4	229	4	MAPK10	4	86950424	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	48151812	86950424	104203852	85	20453											
GALNTL6	442117	genome.wustl.edu	37	chr4	173730571	173730571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccaaagtgaggattgttCgcaccaagaaaagagaagga	16	8	11	6	1	0	3	0	1	0	2	2	6	1	5	2	2	0	2	2	2	5	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:173730571C>T	ENST00000506823.1	+	6	1270	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R188C	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	205	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GAGGATTGTTCGCACCAAGAA	0.478																																																	0													105	98	101					4																	173730571		2203	4300	6503	SO:0001583	missense	0				CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"Glycosyltransferase family 2 domain containing"	33844	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 6"	615138	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.613C>T	4.37:g.173730571C>T	ENSP00000423313:p.Arg205Cys		Q2L4S6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R205C	ENST00000506823.1	37	c.613	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367872	0.82463	.	.	ENSG00000174473	ENST00000506823;ENST00000404275;ENST00000508122	T;T	0.65916	-0.18;-0.18	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000009	D	0.86049	0.5840	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89754	0.3942	10	0.87932	D	0	.	19.6346	0.95724	0.0:1.0:0.0:0.0	.	205	Q49A17	GLTL6_HUMAN	C	205;205;188	ENSP00000423313:R205C;ENSP00000423827:R188C	ENSP00000385382:R205C	R	+	1	0	GALNTL6	173967146	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	6.120000	0.71596	2.720000	0.93068	0.491000	0.48974	CGC	GALNTL6	-	pfam_Glyco_trans_2	ENSG00000174473		0.478	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	HGNC	protein_coding	OTTHUMT00000362395.1	-	0	58	0	C	NM_001034845		173730571	1	tier1	-	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	T	T	173730571	C	T	173730571	3	4	78	1	0	0	0	0	1	0	0	0	6250	884	31	1	631	1	GALNTL6	4	173730571	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	86780147	173730571	17423705	86	20454											
ACSL1	2180	genome.wustl.edu	37	chr4	185681562	185681562	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaggctcacttcgcatGtagatattttcaatcttttc	10	15	6	10	1	3	1	2	0	1	1	5	1	3	1	0	1	1	4	0	1	4	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr4:185681562G>T	ENST00000515030.1	-	18	2056	c.1731C>A	c.(1729-1731)taC>taA	p.Y577*	ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Y406*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Y577*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Y406*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Y543*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Y577*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Y577*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	577					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACTTCGCATGTAGATATTTT	0.438																																																	0													297	313	308					4																	185681562		2203	4300	6503	SO:0001587	stop_gained	0			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"Acyl-CoA synthetase family"	3569	protein-coding gene	gene with protein product	"lignoceroyl-CoA synthase", "long-chain fatty-acid-coenzyme A ligase 1"	152425	"fatty-acid-Coenzyme A ligase, long-chain 2"	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1731C>A	4.37:g.185681562G>T	ENSP00000422607:p.Tyr577*		B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Y577*	ENST00000515030.1	37	c.1731	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454586	0.84209	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000503407;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.55	3.84	0.44239	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9155	10.281	0.43539	0.2649:0.0:0.7351:0.0	.	.	.	.	X	406;577;173;577;543;406;577;577	.	ENSP00000281455:Y577X	Y	-	3	2	ACSL1	185918556	0.978000	0.34361	0.590000	0.28732	0.078000	0.17371	1.831000	0.39141	0.727000	0.32360	-0.126000	0.14955	TAC	ACSL1	-	pfam_AMP-dep_Synth/Lig	ENSG00000151726		0.438	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	-	0	59	0	G	NM_001995		185681562	-1	tier1	-	no_errors	ENST00000281455	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.610	T	T	185681562	G	T	185681562	4	4	78	1	0	0	0	0	0	1	0	0	177	1372	48	3	381	3	ACSL1	4	185681562	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11950991	185681562	5472714	87	20455											
SLC6A19	340024	genome.wustl.edu	37	chr5	1212593	1212593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgcggcatcgagaccacCgggaaggtactgcatgggcc	9	5	14	13	4	0	1	0	0	0	1	2	3	1	2	4	4	2	3	4	4	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:1212593C>T	ENST00000304460.10	+	4	713	c.657C>T	c.(655-657)acC>acT	p.T219T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	219					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCGAGACCACCGGGAAGGTAC	0.677																																																	0													71	69	70					5																	1212593		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.657C>T	5.37:g.1212593C>T			A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.R189W	ENST00000304460.10	37	c.565	CCDS34130.1	5																																																																																			SLC6A19	-	NULL	ENSG00000174358		0.677	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1		0	39	0	C	XM_291120		1212593	1			no_errors	ENST00000515652	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.002	T	T	1212593	C	T	1212593	2	4	78	1	0	0	0	0	0	0	0	1	14727	639	23	1		1	SLC6A19	5	1212593	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09		1212593	179702667	88	20456											
AMACR	23600	genome.wustl.edu	37	chr5	33989488	33989488	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggcatctgtgccgtcaaAgatttgacaccactctgcct	10	10	8	13	1	3	2	1	1	2	1	3	2	3	2	3	1	2	1	3	1	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:33989488A>C	ENST00000335606.6	-	5	947	c.859T>G	c.(859-861)Ttt>Gtt	p.F287V	AMACR_ENST00000502637.1_Missense_Mutation_p.F272V|AMACR_ENST00000382085.3_Missense_Mutation_p.F287V|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	287					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GTGCCGTCAAAGATTTGACAC	0.463																																																	0													101	92	95					5																	33989488		2203	4300	6503	SO:0001583	missense	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.859T>G	5.37:g.33989488A>C	ENSP00000334424:p.Phe287Val		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.F287V	ENST00000335606.6	37	c.859	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701590	0.88924	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.61980	0.06;0.06;0.06	5.7	5.7	0.88788	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	H	0.97186	3.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	D	0.90899	0.4767	10	0.87932	D	0	-20.9171	16.2624	0.82553	1.0:0.0:0.0:0.0	.	287;272;287	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	V	287;287;272	ENSP00000334424:F287V;ENSP00000371517:F287V;ENSP00000424351:F272V	ENSP00000334424:F287V	F	-	1	0	AMACR	34025245	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	8.950000	0.93019	2.297000	0.77311	0.519000	0.50382	TTT	AMACR	-	superfamily_CoA-Trfase_III_dom	ENSG00000242110		0.463	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	-	0	52	0	A	NM_014324		33989488	-1	tier1	-	no_errors	ENST00000335606	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	C	C	33989488	A	C	33989488	3	2	78	1	0	0	0	0	1	0	0	0	562	72	3	4	351	4	AMACR	5	33989488	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	32776895	33989488	146925772	89	20457											
PLK2	10769	genome.wustl.edu	37	chr5	57750818	57750818	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagagccgaggtcttcGaatatcagtaacactaggca	13	8	12	8	2	2	1	1	0	1	1	3	4	2	1	1	3	2	3	1	3	5	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:57750818G>T	ENST00000274289.3	-	13	2086	c.1786C>A	c.(1786-1788)Cga>Aga	p.R596R	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	596					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CGAGGTCTTCGAATATCAGTA	0.413																																																	0													166	170	168					5																	57750818		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"serum-inducible kinase"	607023	"polo-like kinase 2 (Drosophila)"				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1786C>A	5.37:g.57750818G>T			O60679|Q96CV7|Q9UE61	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.R596	ENST00000274289.3	37	c.1786	CCDS3974.1	5																																																																																			PLK2	-	NULL	ENSG00000145632		0.413	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1		0	51	0	G	NM_006622		57750818	-1			no_errors	ENST00000274289	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	57750818	G	T	57750818	2	4	78	1	0	0	0	0	0	0	0	1	12135	1066	37	2		2	PLK2	5	57750818	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	23761330	57750818	123164442	90	20458											
MARVELD2	153562	genome.wustl.edu	37	chr5	68737386	68737386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttctggaaaaaaaagaaCgctgtgattacctaaagaat	18	10	7	6	1	1	3	0	1	1	2	1	4	1	4	1	1	2	1	1	1	9	3	rs533462435		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:68737386C>T	ENST00000325631.5	+	7	1656	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R412C	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	528					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AAAAAAAGAACGCTGTGATTA	0.318													C|||	1	0.000199681	0	0	5008	,	,		15896	0.001		0	False		,,,				2504	0																0													46	49	48					5																	68737386		2196	4297	6493	SO:0001583	missense	0			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1582C>T	5.37:g.68737386C>T	ENSP00000323264:p.Arg528Cys		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel	p.R528C	ENST00000325631.5	37	c.1582	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725599	0.68959	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000436532;ENST00000413223	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.58	5.58	0.84498	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.046704	0.85682	N	0.000000	T	0.64427	0.2597	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.72730	-0.4205	10	0.87932	D	0	-5.0793	13.9293	0.63983	0.1527:0.8472:0.0:0.0	.	516;528	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	C	528;516;412;412	ENSP00000323264:R528C;ENSP00000396244:R516C;ENSP00000414776:R412C;ENSP00000398922:R412C	ENSP00000323264:R528C	R	+	1	0	MARVELD2	68773142	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.658000	0.46733	2.640000	0.89533	0.563000	0.77884	CGC	MARVELD2	-	pfam_Occludin_RNApol2_elong_fac_ELL	ENSG00000152939		0.318	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1	-	0	95	0	C	NM_144724		68737386	1	tier1	-	no_errors	ENST00000325631	ensembl	human	known	74_37	missense	17.81	60	13	SNP	1.000	T	T	68737386	C	T	68737386	3	4	78	1	0	0	0	0	1	0	0	0	9356	536	19	1	1604	1	MARVELD2	5	68737386	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	10986568	68737386	112177874	91	20459											
FAM81B	153643	genome.wustl.edu	37	chr5	94749806	94749806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggggacccatggctttcGaaaagaggaatcgctcgcca	11	6	13	11	3	0	1	0	0	0	1	3	4	0	3	2	4	0	3	2	4	3	1	rs374860699		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:94749806G>A	ENST00000283357.5	+	4	495	c.449G>A	c.(448-450)cGa>cAa	p.R150Q		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	150			R -> G (in dbSNP:rs10042271).			nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CATGGCTTTCGAAAAGAGGAA	0.493													G|||	1	0.000199681	0	0	5008	,	,		19279	0.001		0	False		,,,				2504	0																0								G	GLN/ARG	0,3954		0,0,1977	96	97	97		449	-6.2	0.3	5		97	2,8326		0,2,4162	no	missense	FAM81B	NM_152548.2	43	0,2,6139	AA,AG,GG		0.024,0.0,0.0163	benign	150/453	94749806	2,12280	1977	4164	6141	SO:0001583	missense	0				CCDS43341.1	5q15	2008-02-05			ENSG00000153347	ENSG00000153347			26335	protein-coding gene	gene with protein product							Standard	NM_152548		Approved	FLJ25333	uc003kla.1	Q96LP2	OTTHUMG00000162837	ENST00000283357.5:c.449G>A	5.37:g.94749806G>A	ENSP00000283357:p.Arg150Gln			Missense_Mutation	SNP	NULL	p.R150Q	ENST00000283357.5	37	c.449	CCDS43341.1	5	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266196	0.10294	0.0	2.4E-4	ENSG00000153347	ENST00000283357	T	0.18016	2.24	5.53	-6.25	0.02039	.	0.995025	0.08161	N	0.988427	T	0.12092	0.0294	L	0.34521	1.04	0.09310	N	1	B	0.18741	0.03	B	0.08055	0.003	T	0.29549	-1.0008	10	0.21540	T	0.41	0.0016	15.3845	0.74687	0.8002:0.0:0.1998:0.0	.	150	Q96LP2	FA81B_HUMAN	Q	150	ENSP00000283357:R150Q	ENSP00000283357:R150Q	R	+	2	0	FAM81B	94775562	0.000000	0.05858	0.263000	0.24496	0.010000	0.07245	-0.938000	0.03938	-1.247000	0.02507	-0.143000	0.13931	CGA	FAM81B	-	NULL	ENSG00000153347		0.493	FAM81B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81B	HGNC	protein_coding	OTTHUMT00000370690.1	-	0	49	0	G	NM_152548		94749806	1	tier1	-	no_errors	ENST00000283357	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.023	A	A	94749806	G	A	94749806	3	1	78	1	0	0	0	0	1	0	0	0	5651	1058	37	1	463	1	FAM81B	5	94749806	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	26012420	94749806	86165454	92	20460											
GDF9	2661	genome.wustl.edu	37	chr5	132197864	132197864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaaatataagatcagtgagGgggacaccagagtcatgtta	15	9	11	6	0	3	3	3	1	0	2	3	4	3	4	1	2	0	1	1	2	4	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:132197864G>A	ENST00000378673.2	-	3	1648	c.782C>T	c.(781-783)cCc>cTc	p.P261L	GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.P261L			O60383	GDF9_HUMAN	growth differentiation factor 9	261					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATCAGTGAGGGGGACACCAG	0.438																																																	0													82	81	82					5																	132197864		2203	4300	6503	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"Endogenous ligands"	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.782C>T	5.37:g.132197864G>A	ENSP00000367942:p.Pro261Leu		Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.P261L	ENST00000378673.2	37	c.782	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.359883	0.95854	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	D;D	0.85411	-1.98;-1.98	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.93890	0.8045	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93744	0.7053	10	0.87932	D	0	.	20.4548	0.99139	0.0:0.0:1.0:0.0	.	261	O60383	GDF9_HUMAN	L	261	ENSP00000367942:P261L;ENSP00000296875:P261L	ENSP00000296875:P261L	P	-	2	0	GDF9	132225763	1.000000	0.71417	0.745000	0.31077	0.187000	0.23431	9.353000	0.97080	2.937000	0.99478	0.650000	0.86243	CCC	GDF9	-	NULL	ENSG00000164404		0.438	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	-	0	78	0	G	NM_005260		132197864	-1	tier1	-	no_errors	ENST00000296875	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	A	A	132197864	G	A	132197864	3	1	78	1	0	0	0	0	1	0	0	0	6345	1232	43	3	586	3	GDF9	5	132197864	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	37448058	132197864	48717396	93	20461											
AFF4	27125	genome.wustl.edu	37	chr5	132228047	132228047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaaggaacaggcccagCgggagaaggcaacaaatcct	14	6	12	9	1	0	2	0	1	0	1	1	4	1	3	2	4	3	1	2	4	5	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:132228047C>T	ENST00000265343.5	-	13	2825	c.2446G>A	c.(2446-2448)Gct>Act	p.A816T	AFF4_ENST00000378595.3_Missense_Mutation_p.A816T	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	816					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAGGCCCAGCGGGAGAAGGC	0.448																																					Ovarian(126;889 1733 2942 10745 11605)												0													107	110	109					5																	132228047		2203	4300	6503	SO:0001583	missense	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2446G>A	5.37:g.132228047C>T	ENSP00000265343:p.Ala816Thr		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.A816T	ENST00000265343.5	37	c.2446	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376200	0.82682	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.63913	-0.07;-0.07	5.68	5.68	0.88126	.	0.246810	0.41938	D	0.000791	T	0.71558	0.3354	L	0.44542	1.39	0.46725	D	0.999178	D;D	0.89917	1.0;0.98	D;B	0.83275	0.996;0.44	T	0.63567	-0.6608	10	0.12430	T	0.62	-11.7626	17.9742	0.89122	0.0:1.0:0.0:0.0	.	816;816	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	T	816	ENSP00000265343:A816T;ENSP00000367858:A816T	ENSP00000265343:A816T	A	-	1	0	AFF4	132255946	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.243000	0.58721	2.677000	0.91161	0.563000	0.77884	GCT	AFF4	-	pfam_TF_AF4/FMR2	ENSG00000072364		0.448	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	HGNC	protein_coding	OTTHUMT00000133049.1		0	32	0	C	NM_014423		132228047	-1			no_errors	ENST00000265343	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	132228047	C	T	132228047	3	4	78	1	0	0	0	0	1	0	0	0	359	768	27	1	1081	1	AFF4	5	132228047	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	30183	132228047	48687213	94	20462											
ANKHD1	54882	genome.wustl.edu	37	chr5	139844263	139844263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgctaggcgctaatgtgCatgctacaacagcaacagga	12	9	11	9	1	0	0	0	0	0	0	0	1	0	1	0	2	7	6	0	2	5	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:139844263C>T	ENST00000360839.2	+	10	1838	c.1684C>T	c.(1684-1686)Cat>Tat	p.H562Y	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H562Y|ANKHD1_ENST00000297183.6_Missense_Mutation_p.H562Y|ANKHD1_ENST00000394722.3_Missense_Mutation_p.H551Y|ANKHD1_ENST00000394723.3_Missense_Mutation_p.H562Y	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	562						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTAATGTGCATGCTACAAC	0.378																																																	0													99	87	91					5																	139844263		2203	4300	6503	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1684C>T	5.37:g.139844263C>T	ENSP00000354085:p.His562Tyr		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.H562Y	ENST00000360839.2	37	c.1684	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708255	0.89018	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	T;T;T;T;T;T	0.64085	2.39;2.39;-0.08;-0.08;-0.08;2.39	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.053535	0.85682	D	0.000000	T	0.63616	0.2526	N	0.25992	0.78	0.80722	D	1	P;P;P;P;D;P	0.53151	0.886;0.906;0.906;0.906;0.958;0.933	B;P;P;P;P;P	0.51945	0.359;0.492;0.671;0.671;0.574;0.685	T	0.67707	-0.5601	10	0.72032	D	0.01	.	19.357	0.94418	0.0:1.0:0.0:0.0	.	562;562;562;562;551;562	Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;.;ANKH1_HUMAN;.;.	Y	562;576;562;562;77;23;562;562;551;562	ENSP00000354085:H562Y;ENSP00000297183:H562Y;ENSP00000394489:H562Y;ENSP00000378212:H562Y;ENSP00000378211:H551Y;ENSP00000432016:H562Y	ENSP00000432016:H562Y	H	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139824447	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	2.592000	0.87571	0.484000	0.47621	CAT	ANKHD1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131503		0.378	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0	60	0	C	NM_017747		139844263	1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	13.10	73	11	SNP	1.000	T	T	139844263	C	T	139844263	3	4	78	1	0	0	0	0	1	0	0	0	628	710	25	3	1722	3	ANKHD1	5	139844263	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	7616216	139844263	41070997	95	20463											
PCDHA5	56143	genome.wustl.edu	37	chr5	140203586	140203586	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactctgttgtgctccagCgcggtggggagctggtcgta	4	10	15	12	3	1	0	0	0	1	0	3	1	2	1	2	4	3	4	2	4	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:140203586C>T	ENST00000529859.1	+	1	2226	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.S742S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.S742S|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	742					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S742R(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.652																																																	2	Substitution - Missense(2)	lung(2)											62	58	59					5																	140203586		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2226C>T	5.37:g.140203586C>T			O75284|Q8N4R3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S742	ENST00000529859.1	37	c.2226	CCDS54917.1	5																																																																																			PCDHA5	-	NULL	ENSG00000204965		0.652	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	-	0	66	0	C	NM_018908		140203586	1	tier1	-	no_errors	ENST00000529859	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.668	T	T	140203586	C	T	140203586	2	4	78	1	0	0	0	0	0	0	0	1	11566	767	27	1		1	PCDHA5	5	140203586	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	359323	140203586	40711674	96	20464											
PCDHA9	9752	genome.wustl.edu	37	chr5	140230270	140230270	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgatgcccaccgagggCgagtgcgcgcctggcaagcc	6	4	16	15	6	0	0	0	0	0	0	1	3	0	0	4	3	3	1	4	3	1	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:140230270C>A	ENST00000532602.1	+	1	3223	c.2190C>A	c.(2188-2190)ggC>ggA	p.G730G	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.G730G|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	730					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCGAGGGCGAGTGCGCGC	0.642																																					Melanoma(55;1800 1972 14909)												0													72	64	67					5																	140230270		2197	4270	6467	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2190C>A	5.37:g.140230270C>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G730	ENST00000532602.1	37	c.2190	CCDS54920.1	5																																																																																			PCDHA9	-	NULL	ENSG00000204961		0.642	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	84	0	C	NM_031857		140230270	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	8.06	57	5	SNP	0.586	A	A	140230270	C	A	140230270	2	1	78	1	0	0	0	0	0	0	0	1	11570	755	27	2		2	PCDHA9	5	140230270	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	26684	140230270	40684990	97	20465											
RBM27	54439	genome.wustl.edu	37	chr5	145634538	145634538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatggttacaacccagaaGctcctagtattactagttct	12	12	7	10	0	1	2	0	0	1	2	2	2	2	2	2	1	4	4	2	1	7	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:145634538G>T	ENST00000265271.5	+	10	1643	c.1477G>T	c.(1477-1479)Gct>Tct	p.A493S	RBM27_ENST00000506502.1_Missense_Mutation_p.A438S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	493					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACCCAGAAGCTCCTAGTAT	0.398																																																	0													106	93	97					5																	145634538		1568	3582	5150	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	29243	protein-coding gene	gene with protein product	"acidic rich RS domain containing 1"					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1477G>T	5.37:g.145634538G>T	ENSP00000265271:p.Ala493Ser		Q8IYW9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.A493S	ENST00000265271.5	37	c.1477	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175274	0.78564	.	.	ENSG00000091009	ENST00000265271	T	0.50001	0.76	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	T	0.55924	0.1951	N	0.24115	0.695	0.47778	D	0.999513	B;D	0.63880	0.128;0.993	B;D	0.72625	0.054;0.978	T	0.53927	-0.8369	10	0.33141	T	0.24	-14.1787	18.9047	0.92455	0.0:0.0:1.0:0.0	.	493;438	Q9P2N5;B3KY61	RBM27_HUMAN;.	S	493	ENSP00000265271:A493S	ENSP00000265271:A493S	A	+	1	0	RBM27	145614731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.709000	0.61867	2.542000	0.85734	0.650000	0.86243	GCT	RBM27	-	NULL	ENSG00000091009		0.398	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1		0	72	0	G	XM_291128		145634538	1			no_errors	ENST00000265271	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	145634538	G	T	145634538	3	4	78	1	0	0	0	0	1	0	0	0	13172	971	34	3	1515	3	RBM27	5	145634538	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5404268	145634538	35280722	98	20466											
SLC36A2	153201	genome.wustl.edu	37	chr5	150701706	150701706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggatgatgatttctgcagGgacgtagaactgcagggcat	10	9	16	6	1	1	3	0	2	1	1	1	5	1	5	0	4	3	4	0	4	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:150701706G>T	ENST00000335244.4	-	9	1210	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	SLC36A2_ENST00000450886.1_Missense_Mutation_p.P85T|SLC36A2_ENST00000521967.1_Missense_Mutation_p.P361T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	361					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ATTTCTGCAGGGACGTAGAAC	0.557																																																	0													151	136	141					5																	150701706		2203	4300	6503	SO:0001583	missense	0			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"Solute carriers"	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1081C>A	5.37:g.150701706G>T	ENSP00000334223:p.Pro361Thr		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.P361T	ENST00000335244.4	37	c.1081	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808543	0.70797	.	.	ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967	T;T;T	0.02140	4.43;4.43;4.43	4.76	4.76	0.60689	.	0.053148	0.85682	D	0.000000	T	0.11281	0.0275	M	0.74647	2.275	0.52501	D	0.999958	D;P	0.76494	0.999;0.942	D;P	0.74023	0.982;0.855	T	0.00211	-1.1915	10	0.52906	T	0.07	-14.3751	13.9906	0.64364	0.0:0.1515:0.8484:0.0	.	361;361	E5RJJ5;Q495M3	.;S36A2_HUMAN	T	361;85;361	ENSP00000334223:P361T;ENSP00000399479:P85T;ENSP00000430535:P361T	ENSP00000334223:P361T	P	-	1	0	SLC36A2	150681899	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.145000	0.58065	2.621000	0.88768	0.563000	0.77884	CCT	SLC36A2	-	pfam_AA_transpt_TM	ENSG00000186335		0.557	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	-	0	55	0	G			150701706	-1	tier1	-	no_errors	ENST00000335244	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	150701706	G	T	150701706	3	4	78	1	0	0	0	0	1	0	0	0	14639	1232	43	3	378	3	SLC36A2	5	150701706	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5067168	150701706	30213554	99	20467											
LSM11	134353	genome.wustl.edu	37	chr5	157182019	157182019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccggggctcacacaagcGttcccgctctgtcccttctt	4	11	10	16	3	3	0	1	0	2	0	5	0	5	0	3	3	1	3	3	3	1	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:157182019G>T	ENST00000286307.5	+	4	886	c.830G>T	c.(829-831)cGt>cTt	p.R277L		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	277					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)	p.R277H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACACAAGCGTTCCCGCTCT	0.577																																																	1	Substitution - Missense(1)	prostate(1)											70	69	70					5																	157182019		2203	4300	6503	SO:0001583	missense	0			AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.830G>T	5.37:g.157182019G>T	ENSP00000286307:p.Arg277Leu		A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.R277L	ENST00000286307.5	37	c.830	CCDS4342.1	5	.	.	.	.	.	.	.	.	.	.	G	12.38	1.922032	0.33908	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.52	2.58	0.30949	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.565316	0.20520	N	0.090715	T	0.20700	0.0498	N	0.19112	0.55	0.22896	N	0.998592	B	0.32203	0.36	B	0.24848	0.056	T	0.09885	-1.0654	9	0.54805	T	0.06	-0.684	9.1607	0.37021	0.381:0.0:0.619:0.0	.	277	P83369	LSM11_HUMAN	L	277	.	ENSP00000286307:R277L	R	+	2	0	LSM11	157114597	0.760000	0.28428	0.698000	0.30274	0.993000	0.82548	1.300000	0.33436	0.212000	0.20703	0.655000	0.94253	CGT	LSM11	-	superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000155858		0.577	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM11	HGNC	protein_coding	OTTHUMT00000252580.2		0	44	0	G	NM_173491		157182019	1			no_errors	ENST00000286307	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.402	T	T	157182019	G	T	157182019	3	4	78	1	0	0	0	0	1	0	0	0	9087	1145	40	2	844	2	LSM11	5	157182019	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	6480313	157182019	23733241	100	20468											
SLU7	10569	genome.wustl.edu	37	chr5	159833509	159833509	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcacatcctcctcatacTtagagcaggcaacagcccgc	10	9	6	16	1	3	1	2	0	1	1	5	1	5	1	3	1	4	2	3	1	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:159833509T>G	ENST00000297151.4	-	12	1640	c.1253A>C	c.(1252-1254)aAg>aCg	p.K418T		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	418					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTCATACTTAGAGCAGGC	0.448																																																	0													156	127	137					5																	159833509		2203	4300	6503	SO:0001583	missense	0			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1253A>C	5.37:g.159833509T>G	ENSP00000297151:p.Lys418Thr		D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.K418T	ENST00000297151.4	37	c.1253	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	T	31	5.073478	0.94000	.	.	ENSG00000164609	ENST00000297151	T	0.47528	0.84	6.07	6.07	0.98685	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.82433	2.59	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.75938	-0.3141	10	0.72032	D	0.01	-18.9536	16.6407	0.85098	0.0:0.0:0.0:1.0	.	418	O95391	SLU7_HUMAN	T	418	ENSP00000297151:K418T	ENSP00000297151:K418T	K	-	2	0	SLU7	159766087	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.621000	0.83083	2.326000	0.78906	0.533000	0.62120	AAG	SLU7	-	pfam_Slu7	ENSG00000164609		0.448	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	-	0	36	0	T	NM_006425		159833509	-1	tier1	-	no_errors	ENST00000297151	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	G	G	159833509	T	G	159833509	3	3	78	1	0	0	0	0	1	0	0	0	14800	1609	56	4	527	4	SLU7	5	159833509	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	2651490	159833509	21081751	101	20469											
HRH2	3274	genome.wustl.edu	37	chr5	175110582	175110582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgatcagcctcgacCggtactgcgctgtcatggac	7	11	10	13	3	4	1	3	1	1	0	5	3	4	2	2	2	3	2	2	2	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:175110582C>T	ENST00000231683.2	+	1	2119	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	HRH2_ENST00000377291.2_Missense_Mutation_p.R116W	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	116					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	CAGCCTCGACCGGTACTGCGC	0.537																																																	0													122	103	110					5																	175110582		2203	4300	6503	SO:0001583	missense	0				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"GPCR / Class A : Histamine receptors"	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.346C>T	5.37:g.175110582C>T	ENSP00000231683:p.Arg116Trp		B5BUP7|Q14464|Q7Z5R9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt	p.R116W	ENST00000231683.2	37	c.346	CCDS4395.1	5	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902610	0.72754	.	.	ENSG00000113749	ENST00000377291;ENST00000231683	D;D	0.97186	-4.28;-4.28	5.46	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	H	0.99312	4.51	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98725	1.0710	10	0.87932	D	0	.	13.9857	0.64334	0.3959:0.6041:0.0:0.0	.	116;116	P25021;Q7Z5R9	HRH2_HUMAN;.	W	116	ENSP00000366506:R116W;ENSP00000231683:R116W	ENSP00000231683:R116W	R	+	1	2	HRH2	175043188	1.000000	0.71417	0.986000	0.45419	0.955000	0.61496	4.882000	0.63121	0.241000	0.21283	0.462000	0.41574	CGG	HRH2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000113749		0.537	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH2	HGNC	protein_coding	OTTHUMT00000253151.1		0	41	0	C			175110582	1			no_errors	ENST00000377291	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	175110582	C	T	175110582	3	4	78	1	0	0	0	0	1	0	0	0	7383	643	23	1	348	1	HRH2	5	175110582	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	15277073	175110582	5804678	102	20470											
ZNF454	285676	genome.wustl.edu	37	chr5	178392111	178392111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcaccttatccatcaccaaAgaattcacactggcgagaaa	15	7	6	13	2	2	2	2	0	0	2	3	3	3	2	3	1	0	1	3	1	4	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr5:178392111A>G	ENST00000320129.3	+	5	1009	c.706A>G	c.(706-708)Aga>Gga	p.R236G	ZNF454_ENST00000519564.1_Missense_Mutation_p.R236G	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CCATCACCAAAGAATTCACAC	0.398																																																	0													98	103	102					5																	178392111		2203	4300	6503	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.706A>G	5.37:g.178392111A>G	ENSP00000326249:p.Arg236Gly		Q2M1P2|Q2M323	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R236G	ENST00000320129.3	37	c.706	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980293	0.74474	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.24723	1.84;1.84	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000610	T	0.41050	0.1142	M	0.72479	2.2	0.38649	D	0.951804	D	0.61080	0.989	P	0.54346	0.749	T	0.50083	-0.8869	10	0.87932	D	0	-25.0624	12.0154	0.53311	1.0:0.0:0.0:0.0	.	236	Q8N9F8	ZN454_HUMAN	G	236	ENSP00000326249:R236G;ENSP00000430354:R236G	ENSP00000326249:R236G	R	+	1	2	ZNF454	178324717	0.007000	0.16637	1.000000	0.80357	0.971000	0.66376	2.441000	0.44864	1.999000	0.58509	0.454000	0.30748	AGA	ZNF454	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.398	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	-	0	63	0	A	XM_209718		178392111	1	tier1	-	no_errors	ENST00000320129	ensembl	human	known	74_37	missense	40.74	16	11	SNP	1.000	G	G	178392111	A	G	178392111	3	3	78	1	0	0	0	0	1	0	0	0	17971	64	3	4	720	4	ZNF454	5	178392111	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	3281529	178392111	2523149	103	20471											
EXOC2	55770	genome.wustl.edu	37	chr6	610147	610147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatccttctactttttcCgttccatctgcttctagttt	5	20	5	11	1	3	0	0	0	3	0	6	1	6	1	3	1	2	3	3	1	2	8			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:610147C>T	ENST00000230449.4	-	7	828	c.693G>A	c.(691-693)acG>acA	p.T231T	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	231					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTACTTTTTCCGTTCCATCTG	0.343																																																	0													131	125	127					6																	610147		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.693G>A	6.37:g.610147C>T			B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.T231	ENST00000230449.4	37	c.693	CCDS34327.1	6																																																																																			EXOC2	-	NULL	ENSG00000112685		0.343	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	-	0	70	0	C	NM_018303		610147	-1	tier1	-	no_errors	ENST00000230449	ensembl	human	known	74_37	silent	49.47	48	47	SNP	0.877	T	T	610147	C	T	610147	2	4	78	1	0	0	0	0	0	0	0	1	5318	639	23	1		1	EXOC2	6	610147	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09		610147	170504920	104	20472											
TRIM39	56658	genome.wustl.edu	37	chr6	30309814	30309814	+	Frame_Shift_Del	DEL	T	T	-																															tatgcagccaccaccacaccTtttacccctttgcacatcaa																										TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:30309814delT	ENST00000396547.1	+	8	1495	c.1335delT	c.(1333-1335)cctfs	p.P445fs	TRIM39_ENST00000376659.5_Frame_Shift_Del_p.P415fs|TRIM39_ENST00000376656.4_Frame_Shift_Del_p.P445fs|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000396548.1_Frame_Shift_Del_p.P415fs|TRIM39_ENST00000540416.1_Frame_Shift_Del_p.P415fs|TRIM39_ENST00000396551.3_Frame_Shift_Del_p.P415fs			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	445	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						CCACCACACCTTTTACCCCTT	0.547																																																	0													77	76	77					6																	30309814		1511	2709	4220	SO:0001589	frameshift_variant	0			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10065	protein-coding gene	gene with protein product		605700	"ring finger protein 23", "tripartite motif-containing 39"	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.1335delT	6.37:g.30309814delT	ENSP00000379796:p.Pro445fs		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F446fs	ENST00000396547.1	37	c.1335	CCDS34377.1	6																																																																																			TRIM39	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000204599		0.547	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2		0	57	0	T	NM_172016		30309814	1	tier1		no_errors	ENST00000376656	ensembl	human	known	74_37	frame_shift_del	6.82	41	3	DEL	0.999	-	-	30309814	T	-	30309814	7	5	78	1	0	1	0	1	0	0	0	0	16561	1596	56	0	1361	0	TRIM39	6	30309814	Frame_Shift_Del	DEL	T	TCGA-L5-A893-01A-11D-A36J-09	29699667	30309814	140805253	105	20473											
KIAA1949	170954	genome.wustl.edu	37	chr6	30652231	30652231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcaaggcagctgcggCtgagacggaggtagcccccc	7	5	15	14	2	0	1	0	1	0	1	0	3	0	2	4	5	3	5	4	5	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:30652231C>T	ENST00000274853.3	-	1	3441	c.1565G>A	c.(1564-1566)aGc>aAc	p.S522N	PPP1R18_ENST00000399199.3_Missense_Mutation_p.S522N|PPP1R18_ENST00000488324.1_5'UTR	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	522						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GCAGCTGCGGCTGAGACGGAG	0.582																																																	0													57	61	60					6																	30652231		1222	2546	3768	SO:0001583	missense	0			AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29413	protein-coding gene	gene with protein product	"protein phosphatase 1 F-actin cytoskeleton targeting subunit"	610990	"KIAA1949"	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.1565G>A	6.37:g.30652231C>T	ENSP00000274853:p.Ser522Asn		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	Missense_Mutation	SNP	NULL	p.S522N	ENST00000274853.3	37	c.1565	CCDS43444.1	6	.	.	.	.	.	.	.	.	.	.	C	11.19	1.567007	0.28003	.	.	ENSG00000146112	ENST00000274853;ENST00000399199	T;T	0.24350	1.86;1.86	4.52	2.69	0.31865	.	0.284498	0.34133	N	0.004225	T	0.06280	0.0162	L	0.31926	0.97	0.26664	N	0.971851	B	0.21071	0.051	B	0.27262	0.078	T	0.35919	-0.9769	10	0.16896	T	0.51	-1.614	7.4108	0.27016	0.0:0.7946:0.0:0.2054	.	522	Q6NYC8	PPR18_HUMAN	N	522	ENSP00000274853:S522N;ENSP00000382150:S522N	ENSP00000274853:S522N	S	-	2	0	KIAA1949	30760210	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.219000	0.32479	1.122000	0.41944	0.655000	0.94253	AGC	PPP1R18	-	NULL	ENSG00000146112		0.582	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R18	HGNC	protein_coding	OTTHUMT00000076498.2	-	0	56	0	C	NM_133471		30652231	-1	tier1	-	no_errors	ENST00000274853	ensembl	human	known	74_37	missense	41.67	35	25	SNP	1.000	T	T	30652231	C	T	30652231	3	4	78	1	0	0	0	0	1	0	0	0	8290	797	28	3	288	3	KIAA1949	6	30652231	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	342417	30652231	140462836	106	20474											
CYP21A2	1589	genome.wustl.edu	37	chr6	32007600	32007600	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatcgtggagatgcagctGaggcagcacaaggtggggac	11	5	16	9	1	0	2	0	1	0	1	1	4	0	3	0	5	3	4	0	5	1	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:32007600G>C	ENST00000418967.2	+	6	884	c.726G>C	c.(724-726)ctG>ctC	p.L242L	CYP21A2_ENST00000435122.2_Silent_p.L212L	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	241				R -> G (in Ref. 7; BAB70774). {ECO:0000305}.	glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	AGATGCAGCTGAGGCAGCACA	0.592																																					Melanoma(174;1669 1998 3915 34700 46447)												0													108	115	113					6																	32007600		2203	4300	6503	SO:0001819	synonymous_variant	0			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"Cytochrome P450s"	2600	protein-coding gene	gene with protein product	"Steroid 21-monooxygenase"	613815	"cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.726G>C	6.37:g.32007600G>C			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.L242	ENST00000418967.2	37	c.726	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000231852		0.592	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	-	0	63	0	G	NM_000500		32007600	1	tier1	-	no_errors	ENST00000418967	ensembl	human	known	74_37	silent	41.76	53	38	SNP	0.943	C	C	32007600	G	C	32007600	2	2	78	1	0	0	0	0	0	0	0	1	4162	1277	45	5		5	CYP21A2	6	32007600	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1355369	32007600	139107467	107	20475											
CUL9	23113	genome.wustl.edu	37	chr6	43152426	43152426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgctggtacgcagggcGgccaggcagctggcagaaag	9	3	18	11	3	0	1	0	0	0	1	0	1	0	1	1	6	2	6	1	6	2	1	rs374118842		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:43152426G>A	ENST00000252050.4	+	2	462	c.378G>A	c.(376-378)gcG>gcA	p.A126A	CUL9_ENST00000354495.3_Silent_p.A126A|CUL9_ENST00000372647.2_Silent_p.A126A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	126					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TACGCAGGGCGGCCAGGCAGC	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		19219	0		0	False		,,,				2504	0																0								G		0,4406		0,0,2203	77	80	79		378	-1.5	1	6		79	1,8599		0,1,4299	no	coding-synonymous	CUL9	NM_015089.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		126/2518	43152426	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.378G>A	6.37:g.43152426G>A			O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A126	ENST00000252050.4	37	c.378	CCDS4890.1	6																																																																																			CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.627	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2		0	59	0	G	NM_015089		43152426	1			no_errors	ENST00000252050	ensembl	human	known	74_37	silent	8.57	32	3	SNP	1.000	A	A	43152426	G	A	43152426	2	1	78	1	0	0	0	0	0	0	0	1	4070	1103	39	1		1	CUL9	6	43152426	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11144826	43152426	127962641	108	20476											
RIMS1	22999	genome.wustl.edu	37	chr6	73110270	73110270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctcagatcttgttggaaGaactcgacctgtccagcatg	9	11	11	10	1	2	2	1	0	1	2	4	4	3	3	2	2	2	3	2	2	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:73110270G>C	ENST00000521978.1	+	34	4933	c.4933G>C	c.(4933-4935)Gaa>Caa	p.E1645Q	RIMS1_ENST00000491071.2_Missense_Mutation_p.E1434Q|RIMS1_ENST00000522291.1_Missense_Mutation_p.E1244Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.E1428Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.E779Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.E1295Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.E1494Q|RIMS1_ENST00000414192.2_Missense_Mutation_p.E172Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.E770Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.E451Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.E713Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.E1428Q|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000401910.3_Missense_Mutation_p.E965Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.E1324Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1645					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTTGTTGGAAGAACTCGACCT	0.522																																																	0													149	154	153					6																	73110270		2125	4265	6390	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4933G>C	6.37:g.73110270G>C	ENSP00000428417:p.Glu1645Gln		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.E1645Q	ENST00000521978.1	37	c.4933	CCDS47449.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.4|20.4|20.4	3.983381|3.983381|3.983381	0.74474|0.74474|0.74474	.|.|.	.|.|.	ENSG00000079841|ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000517827;ENST00000370420;ENST00000538414;ENST00000414192|ENST00000522211|ENST00000517433	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.77877|.|.	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13|.|.	5.21|5.21|5.21	5.21|5.21|5.21	0.72293|0.72293|0.72293	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.|.	0.089808|.|.	0.46442|.|.	D|.|.	0.000285|.|.	T|T|T	0.70360|0.70360|0.70360	0.3215|0.3215|0.3215	M|M|M	0.69823|0.69823|0.69823	2.125|2.125|2.125	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B;D;D;P;P;P;P;D;D;B;B;B|.|.	0.64830|.|.	0.006;0.0;0.961;0.994;0.62;0.87;0.914;0.955;0.966;0.967;0.01;0.189;0.087|.|.	B;B;P;P;B;B;P;P;P;D;B;B;B|.|.	0.64144|.|.	0.011;0.003;0.551;0.861;0.061;0.438;0.777;0.546;0.487;0.922;0.016;0.193;0.038|.|.	T|T|T	0.68899|0.68899|0.68899	-0.5287|-0.5287|-0.5287	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-23.932|-23.932|-23.932	19.1289|19.1289|19.1289	0.93397|0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	269;451;779;770;1494;965;1244;548;1324;1428;721;1434;1645|.|.	B7Z6K9;B7Z7W2;B7Z3S3;E9PHF5;E9PHR1;E9PF48;E7EX08;Q5JY22;E7ERQ1;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.|.	.;.;.;.;.;.;.;.;.;.;.;.;RIMS1_HUMAN|.|.	Q|N|T	1434;1494;1434;1428;1324;1244;1494;1428;1324;1295;1244;1645;965;770;713;779;693;451;172|562|990	ENSP00000430101:E1434Q;ENSP00000275037:E1428Q;ENSP00000264839:E1494Q;ENSP00000429959:E1428Q;ENSP00000430408:E1324Q;ENSP00000430502:E1295Q;ENSP00000430932:E1244Q;ENSP00000428417:E1645Q;ENSP00000385649:E965Q;ENSP00000428328:E770Q;ENSP00000411235:E713Q;ENSP00000428367:E779Q;ENSP00000359448:E693Q;ENSP00000439730:E451Q;ENSP00000402273:E172Q|.|.	ENSP00000264839:E1494Q|.|.	E|K|R	+|+|+	1|3|2	0|2|0	RIMS1|RIMS1|RIMS1	73166991|73166991|73166991	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	9.735000|9.735000|9.735000	0.98825|0.98825|0.98825	2.563000|2.563000|2.563000	0.86464|0.86464|0.86464	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|AAG|AGA	RIMS1	-	superfamily_C2_dom,smart_C2_dom	ENSG00000079841		0.522	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	42	0	G			73110270	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	C	C	73110270	G	C	73110270	3	2	78	1	0	0	0	0	1	0	0	0	13412	943	33	5	5230	5	RIMS1	6	73110270	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	29957844	73110270	98004797	109	20477											
FILIP1	27145	genome.wustl.edu	37	chr6	76072624	76072624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcatgtggatcacatCttctctggcctgtaatagaa	10	13	8	10	0	4	1	2	0	2	1	5	2	4	2	1	2	1	2	1	2	3	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:76072624C>A	ENST00000237172.7	-	3	616	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	RP11-415D17.3_ENST00000609544.1_RNA|RP11-415D17.3_ENST00000419709.1_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.D96Y|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000440220.1_RNA|FILIP1_ENST00000370020.1_5'UTR|RP11-415D17.3_ENST00000588761.1_RNA	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	96										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGGATCACATCTTCTCTGGCC	0.483																																																	0													111	112	111					6																	76072624		2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.286G>T	6.37:g.76072624C>A	ENSP00000237172:p.Asp96Tyr		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.D96Y	ENST00000237172.7	37	c.286	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591495	0.86953	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.49139	0.79;0.79	5.99	5.99	0.97316	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.85130	0.997;0.986;0.976	T	0.59418	-0.7458	10	0.62326	D	0.03	-31.0983	20.4777	0.99188	0.0:1.0:0.0:0.0	.	96;96;96	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Y	96	ENSP00000376728:D96Y;ENSP00000237172:D96Y	ENSP00000237172:D96Y	D	-	1	0	FILIP1	76129344	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GAT	FILIP1	-	pfam_Cortactin-binding_p2_N	ENSG00000118407		0.483	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0	40	0	C	XM_029179		76072624	-1	tier1	-	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	76072624	C	A	76072624	3	1	78	1	0	0	0	0	1	0	0	0	5916	913	32	3	3371	3	FILIP1	6	76072624	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2962354	76072624	95042443	110	20478											
SENP6	26054	genome.wustl.edu	37	chr6	76385617	76385617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattatattaaatacctctGatctaactaaatgtgaatgg	16	14	6	5	0	2	3	0	2	2	1	2	3	2	3	1	1	2	0	1	1	9	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:76385617G>C	ENST00000447266.2	+	13	1946	c.1468G>C	c.(1468-1470)Gat>Cat	p.D490H	SENP6_ENST00000327284.8_Missense_Mutation_p.D483H|SENP6_ENST00000370010.2_Missense_Mutation_p.D483H|SENP6_ENST00000541192.1_Missense_Mutation_p.D86H|SENP6_ENST00000370014.3_Missense_Mutation_p.D490H	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	490					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAATACCTCTGATCTAACTAA	0.348																																																	0													71	67	68					6																	76385617		1822	4066	5888	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1468G>C	6.37:g.76385617G>C	ENSP00000402527:p.Asp490His		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D490H	ENST00000447266.2	37	c.1468	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683395	0.47991	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.34667	2.57;2.56;1.35;2.57;1.35;1.37	5.27	4.39	0.52855	.	0.149471	0.64402	N	0.000017	T	0.11024	0.0269	N	0.19112	0.55	0.39114	D	0.961533	B;B;B	0.16802	0.019;0.004;0.003	B;B;B	0.18561	0.022;0.004;0.011	T	0.07462	-1.0771	10	0.13108	T	0.6	-12.6199	15.8956	0.79333	0.0:0.1358:0.8642:0.0	.	483;490;483	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	H	483;490;339;483;490;380;86	ENSP00000359027:D483H;ENSP00000359031:D490H;ENSP00000321820:D483H;ENSP00000402527:D490H;ENSP00000391426:D380H;ENSP00000441715:D86H	ENSP00000321820:D483H	D	+	1	0	SENP6	76442337	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.790000	0.69038	1.214000	0.43395	0.650000	0.86243	GAT	SENP6	-	NULL	ENSG00000112701		0.348	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2		0	48	0	G	NM_015571		76385617	1			no_errors	ENST00000370014	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	C	C	76385617	G	C	76385617	3	2	78	1	0	0	0	0	1	0	0	0	14095	1290	45	5	1518	5	SENP6	6	76385617	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	312993	76385617	94729450	111	20479											
IMPG1	3617	genome.wustl.edu	37	chr6	76640790	76640790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtttgcagcgacactccGcttcctcagtccgttcgttc	4	13	9	15	4	1	0	1	0	0	0	6	1	4	0	3	1	2	5	3	1	0	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:76640790G>A	ENST00000369950.3	-	15	2312	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.A708V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GCGACACTCCGCTTCCTCAGT	0.562																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	breast(1)											107	85	93					6																	76640790		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2123C>T	6.37:g.76640790G>A	ENSP00000358966:p.Ala708Val			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A708V	ENST00000369950.3	37	c.2123	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575066	0.45902	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.32272	1.74;1.46	5.45	1.74	0.24563	Epidermal growth factor-like, type 3 (1);	0.411437	0.21614	N	0.071755	T	0.33585	0.0868	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07501	-1.0769	10	0.45353	T	0.12	.	9.1989	0.37246	0.2857:0.0:0.7143:0.0	.	708	Q17R60	IMPG1_HUMAN	V	708;69	ENSP00000358966:A708V;ENSP00000358968:A69V	ENSP00000358966:A708V	A	-	2	0	IMPG1	76697510	1.000000	0.71417	0.037000	0.18230	0.186000	0.23388	4.108000	0.57817	0.028000	0.15324	-0.677000	0.03784	GCG	IMPG1	-	pfscan_EG-like_dom	ENSG00000112706		0.562	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1		0	54	0	G	NM_001563		76640790	-1			no_errors	ENST00000369950	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.876	A	A	76640790	G	A	76640790	3	1	78	1	0	0	0	0	1	0	0	0	7755	1087	38	1	282	1	IMPG1	6	76640790	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	255173	76640790	94474277	112	20480											
BVES	11149	genome.wustl.edu	37	chr6	105573325	105573325	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttatcctctgcagcataAgtttggccctttttcaaggt	7	17	8	9	0	2	0	1	0	1	0	3	0	3	0	2	2	2	4	2	2	3	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:105573325A>C	ENST00000314641.5	-	4	696	c.480T>G	c.(478-480)acT>acG	p.T160T	BVES_ENST00000336775.5_Silent_p.T160T|BVES_ENST00000446408.2_Silent_p.T160T	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	160					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTGCAGCATAAGTTTGGCCCT	0.418																																																	0													164	165	164					6																	105573325		2203	4300	6503	SO:0001819	synonymous_variant	0			AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"popeye domain containing 1"	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.480T>G	6.37:g.105573325A>C			A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.T160	ENST00000314641.5	37	c.480	CCDS5051.1	6																																																																																			BVES	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000112276		0.418	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BVES	HGNC	protein_coding	OTTHUMT00000406075.1	-	0	53	0	A	NM_147147		105573325	-1	tier1	-	no_errors	ENST00000314641	ensembl	human	known	74_37	silent	40.51	46	32	SNP	0.002	C	C	105573325	A	C	105573325	2	2	78	1	0	0	0	0	0	0	0	1	1579	59	3	4		4	BVES	6	105573325	Silent	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	28932535	105573325	65541742	113	20481											
EYA4	2070	genome.wustl.edu	37	chr6	133846296	133846296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatttatcttccaggaaaAgaaagttgctttgaacgaat	14	13	7	7	1	2	2	1	1	1	1	3	4	3	3	1	1	2	2	1	1	6	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:133846296A>G	ENST00000367895.5	+	19	2207	c.1743A>G	c.(1741-1743)aaA>aaG	p.K581K	EYA4_ENST00000452339.2_Intron|EYA4_ENST00000355167.3_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000431403.2_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Silent_p.K558K|EYA4_ENST00000531901.1_Silent_p.K587K|EYA4_ENST00000430974.2_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	581					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TTCCAGGAAAAGAAAGTTGCT	0.393																																					Melanoma(57;398 1237 3528 4702 7415)												0													133	129	130					6																	133846296		2203	4300	6503	SO:0001819	synonymous_variant	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1743A>G	6.37:g.133846296A>G			B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.K581	ENST00000367895.5	37	c.1743	CCDS5165.1	6																																																																																			EYA4	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000112319		0.393	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	HGNC	protein_coding	OTTHUMT00000042282.2	-	0	125	0	A	NM_004100		133846296	1	tier1	-	no_errors	ENST00000367895	ensembl	human	known	74_37	silent	5.50	103	6	SNP	1.000	G	G	133846296	A	G	133846296	2	3	78	1	0	0	0	0	0	0	0	1	5347	69	3	4		4	EYA4	6	133846296	Silent	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	28272971	133846296	37268771	114	20482											
VIP	7432	genome.wustl.edu	37	chr6	153075359	153075359	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcaagtttcattaaaaGaagacattgacatgttgcaa	16	12	7	6	0	2	4	2	2	0	2	2	4	2	4	0	0	1	3	0	0	5	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr6:153075359G>T	ENST00000367244.3	+	3	338	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	VIP_ENST00000367243.3_Nonsense_Mutation_p.E56*	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	56					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TTCATTAAAAGAAGACATTGA	0.343																																																	0													87	84	85					6																	153075359		2203	4299	6502	SO:0001587	stop_gained	0				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.166G>T	6.37:g.153075359G>T	ENSP00000356213:p.Glu56*		Q5TCY8|Q5TCY9|Q96QK3	Nonsense_Mutation	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.E56*	ENST00000367244.3	37	c.166	CCDS5240.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.981361|3.981361	0.74474|0.74474	.|.	.|.	ENSG00000146469|ENSG00000146469	ENST00000367244;ENST00000367243|ENST00000431366	.|.	.|.	.|.	5.69|5.69	0.227|0.227	0.15359|0.15359	.|.	0.888159|.	0.09836|.	N|.	0.749518|.	.|T	.|0.11067	.|0.0270	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24657	.|-1.0154	.|3	0.35671|.	T|.	0.21|.	.|.	1.7788|1.7788	0.03027|0.03027	0.1432:0.1896:0.2565:0.4107|0.1432:0.1896:0.2565:0.4107	.|.	.|.	.|.	.|.	X|I	56|5	.|.	ENSP00000356212:E56X|.	E|R	+|+	1|2	0|0	VIP|VIP	153117052|153117052	0.000000|0.000000	0.05858|0.05858	0.962000|0.962000	0.40283|0.40283	0.108000|0.108000	0.19459|0.19459	-0.505000|-0.505000	0.06367|0.06367	0.287000|0.287000	0.22375|0.22375	-0.225000|-0.225000	0.12378|0.12378	GAA|AGA	VIP	-	NULL	ENSG00000146469		0.343	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1		0	64	0	G			153075359	1			no_errors	ENST00000367244	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	0.130	T	T	153075359	G	T	153075359	4	4	78	1	0	0	0	0	0	1	0	0	17216	943	33	3	172	3	VIP	6	153075359	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	19229063	153075359	18039708	115	20483											
CYP2W1	54905	genome.wustl.edu	37	chr7	1024625	1024625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgctggagggctgcccGccagttcacggtgcgtgccc	3	6	17	15	5	1	0	1	0	0	0	1	1	1	1	3	4	3	3	3	4	0	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:1024625G>A	ENST00000308919.7	+	3	390	c.377G>A	c.(376-378)cGc>cAc	p.R126H	CYP2W1_ENST00000340150.6_Missense_Mutation_p.R70H	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	126					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		AGGGCTGCCCGCCAGTTCACG	0.662																																																	0													32	40	37					7																	1024625		2202	4299	6501	SO:0001583	missense	0			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.377G>A	7.37:g.1024625G>A	ENSP00000310149:p.Arg126His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R126H	ENST00000308919.7	37	c.377	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243950	0.58995	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	D;D	0.92647	-3.08;-3.08	4.95	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.97148	0.9068	H	0.96916	3.905	0.44852	D	0.997862	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97289	0.9923	10	0.87932	D	0	.	11.5049	0.50459	0.0846:0.0:0.9154:0.0	.	70;126	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	H	126;70	ENSP00000310149:R126H;ENSP00000344178:R70H	ENSP00000310149:R126H	R	+	2	0	CYP2W1	991151	0.979000	0.34478	0.721000	0.30653	0.063000	0.16089	4.663000	0.61532	1.082000	0.41137	0.491000	0.48974	CGC	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000073067		0.662	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0	59	0	G	NM_017781		1024625	1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.987	A	A	1024625	G	A	1024625	3	1	78	1	0	0	0	0	1	0	0	0	4185	1087	38	1	387	1	CYP2W1	7	1024625	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		1024625	158114038	116	20484											
GPNMB	10457	genome.wustl.edu	37	chr7	23293803	23293803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggaggccgtgtgcaggCggtcctgaccagtgactcac	7	7	14	13	2	1	2	1	2	0	0	2	3	2	3	4	4	1	1	4	4	1	1	rs145407985	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:23293803C>T	ENST00000381990.2	+	3	400	c.239C>T	c.(238-240)gCg>gTg	p.A80V	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000258733.4_Missense_Mutation_p.A80V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.A80V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTGTGCAGGCGGTCCTGACC	0.458													C|||	2	0.000399361	0	0	5008	,	,		16129	0.002		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	108	113	111		239,239	5.3	0.9	7	dbSNP_134	111	0,8600		0,0,4300	no	missense,missense	GPNMB	NM_001005340.1,NM_002510.2	64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	80/573,80/561	23293803	1,13005	2203	4300	6503	SO:0001583	missense	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"transmembrane glycoprotein", "glycoprotein NMB", "glycoprotein nmb-like protein", "osteoactivin"	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.239C>T	7.37:g.23293803C>T	ENSP00000371420:p.Ala80Val		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.A80V	ENST00000381990.2	37	c.239	CCDS34610.1	7	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396907	0.42512	2.27E-4	0.0	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000453162	T;T;T	0.13420	2.59;2.61;2.62	6.17	5.3	0.74995	.	0.073610	0.56097	D	0.000028	T	0.29158	0.0725	L	0.57536	1.79	0.35035	D	0.759118	D;D;P;D	0.89917	0.999;1.0;0.58;1.0	D;D;B;D	0.87578	0.964;0.998;0.126;0.998	T	0.20605	-1.0270	10	0.02654	T	1	-21.0265	15.6955	0.77494	0.0:0.9348:0.0:0.0652	.	80;80;80;80	F5GY20;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	V	80;115;80;80;80	ENSP00000258733:A80V;ENSP00000371420:A80V;ENSP00000405586:A80V	ENSP00000258733:A80V	A	+	2	0	GPNMB	23260328	0.981000	0.34729	0.916000	0.36221	0.167000	0.22549	2.490000	0.45294	1.625000	0.50366	0.655000	0.94253	GCG	GPNMB	-	NULL	ENSG00000136235		0.458	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1		0	91	0	C	NM_001005340		23293803	1			no_errors	ENST00000381990	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.987	T	T	23293803	C	T	23293803	3	4	78	1	0	0	0	0	1	0	0	0	6646	768	27	1	249	1	GPNMB	7	23293803	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	22269178	23293803	135844860	117	20485											
IGF2BP3	10643	genome.wustl.edu	37	chr7	23401175	23401175	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagcttggtccttactggAataggttacatttacaactg	10	15	8	8	0	1	0	0	0	1	0	2	1	2	1	1	3	5	2	1	3	7	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:23401175A>C	ENST00000258729.3	-	5	735	c.379T>G	c.(379-381)Tcc>Gcc	p.S127A	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	127	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TCCTTACTGGAATAGGTTACA	0.343																																																	0													128	128	128					7																	23401175		2203	4300	6503	SO:0001583	missense	0			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"RNA binding motif (RRM) containing"	28868	protein-coding gene	gene with protein product	"IGF II mRNA binding protein 3", "cancer/testis antigen 98"	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.379T>G	7.37:g.23401175A>C	ENSP00000258729:p.Ser127Ala		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.S127A	ENST00000258729.3	37	c.379	CCDS5382.1	7	.	.	.	.	.	.	.	.	.	.	A	9.285	1.049056	0.19827	.	.	ENSG00000136231	ENST00000258729	T	0.14893	2.47	5.32	2.85	0.33270	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.302826	0.34338	N	0.004059	T	0.07683	0.0193	N	0.17082	0.46	0.29471	N	0.857058	B	0.02656	0.0	B	0.11329	0.006	T	0.30268	-0.9984	10	0.08381	T	0.77	-11.5069	6.0993	0.20039	0.4804:0.3871:0.0:0.1325	.	127	O00425	IF2B3_HUMAN	A	127	ENSP00000258729:S127A	ENSP00000258729:S127A	S	-	1	0	IGF2BP3	23367700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.565000	0.53798	1.996000	0.58369	0.460000	0.39030	TCC	IGF2BP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000136231		0.343	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP3	HGNC	protein_coding	OTTHUMT00000250243.2	-	0	71	0	A	NM_006547		23401175	-1	tier1	-	no_errors	ENST00000258729	ensembl	human	known	74_37	missense	26.79	41	15	SNP	1.000	C	C	23401175	A	C	23401175	3	2	78	1	0	0	0	0	1	0	0	0	7602	246	9	4	1404	4	IGF2BP3	7	23401175	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	107372	23401175	135737488	118	20486											
ELN	2006	genome.wustl.edu	37	chr7	73452037	73452037	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttctcttccctctgcagCgctggggcctggaggcaaac	6	10	11	14	1	3	0	0	0	3	0	5	1	4	1	2	4	3	3	2	4	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:73452037C>A	ENST00000252034.7	+	4	563	c.164C>A	c.(163-165)gCg>gAg	p.A55E	ELN_ENST00000380576.5_Splice_Site_p.A55E|ELN_ENST00000320492.7_Splice_Site_p.A55E|ELN_ENST00000320399.6_Splice_Site_p.A55E|ELN_ENST00000380553.4_Splice_Site_p.A55E|ELN_ENST00000358929.4_Splice_Site_p.A55E|ELN_ENST00000445912.1_Splice_Site_p.A55E|ELN_ENST00000429192.1_Splice_Site_p.A55E|ELN_ENST00000414324.1_Splice_Site_p.A45E|ELN_ENST00000458204.1_Splice_Site_p.A45E|ELN_ENST00000357036.5_Splice_Site_p.A55E|ELN_ENST00000380584.4_Splice_Site_p.A55E|ELN_ENST00000380575.4_Splice_Site_p.A45E|ELN_ENST00000380562.4_Splice_Site_p.A55E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	55					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCCTCTGCAGCGCTGGGGCCT	0.582			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													88	64	72					7																	73452037		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.164-1C>A	7.37:g.73452037C>A			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.A55E	ENST00000252034.7	37	c.164	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	C	8.733	0.917235	0.17982	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000438880;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442462;ENST00000442310;ENST00000380553;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78924	1.27;1.28;1.25;-1.0;1.35;0.77;-1.22;-1.0;1.28;-1.0;1.28;-1.0;1.27;1.27;-1.22;1.28;-1.22;1.26	5.13	-2.5	0.06384	.	.	.	.	.	T	0.71879	0.3392	.	.	.	0.09310	N	0.999996	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.45768	0.866;0.866;0.777;0.866;0.866;0.777;0.866;0.866;0.866;0.866;0.866;0.866;0.866;0.866	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.48524	0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.483;0.58;0.58;0.58;0.483	T	0.62826	-0.6772	7	.	.	.	.	6.3515	0.21379	0.0:0.2625:0.4728:0.2647	.	55;55;55;45;45;55;45;55;55;55;55;45;55;55	E7ENM0;E9PBM4;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	55;55;55;45;55;55;55;45;55;45;55;45;55;55;55;55;55;55;55;55;55	ENSP00000389857:A55E;ENSP00000252034:A55E;ENSP00000351807:A55E;ENSP00000394549:A45E;ENSP00000315607:A55E;ENSP00000406949:A55E;ENSP00000389206:A55E;ENSP00000392575:A45E;ENSP00000369936:A55E;ENSP00000369949:A45E;ENSP00000369958:A55E;ENSP00000403162:A45E;ENSP00000349540:A55E;ENSP00000391129:A55E;ENSP00000369926:A55E;ENSP00000369950:A55E;ENSP00000399499:A55E;ENSP00000313565:A55E	.	A	+	2	0	ELN	73089973	0.376000	0.25098	0.043000	0.18650	0.002000	0.02628	0.473000	0.22132	-0.217000	0.10033	-0.671000	0.03813	GCG	ELN	-	NULL	ENSG00000049540		0.582	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1		0	18	0	C	NM_000501	Missense_Mutation	73452037	1			no_errors	ENST00000358929	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.045	A	A	73452037	C	A	73452037	5	1	78	1	0	0	0	0	0	0	1	0	5087	782	27	2	178	2	ELN	7	73452037	Splice_Site	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	50050862	73452037	85686626	119	20487											
GNAI1	2770	genome.wustl.edu	37	chr7	79818445	79818445	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcagaagaggagtgtaaAcaatacaaagcagtggtcta	17	9	10	5	0	2	2	1	0	1	2	2	3	2	3	0	2	3	2	0	2	8	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:79818445A>C	ENST00000351004.3	+	3	574	c.201A>C	c.(199-201)aaA>aaC	p.K67N	GNAI1_ENST00000490206.1_3'UTR|GNAI1_ENST00000457358.2_Missense_Mutation_p.K15N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGGAGTGTAAACAATACAAAG	0.393																																																	0													129	127	128					7																	79818445		2203	4300	6503	SO:0001583	missense	0			AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"Gi1 protein alpha subunit"	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.201A>C	7.37:g.79818445A>C	ENSP00000343027:p.Lys67Asn		A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.K67N	ENST00000351004.3	37	c.201	CCDS5595.1	7	.	.	.	.	.	.	.	.	.	.	A	13.88	2.369250	0.42003	.	.	ENSG00000127955	ENST00000351004;ENST00000418742;ENST00000457358;ENST00000447650	D;D;D;T	0.88664	-2.41;-2.41;-2.41;0.9	6.04	-0.621	0.11564	G protein alpha subunit, helical insertion (2);	0.041254	0.85682	N	0.000000	T	0.81356	0.4805	L	0.42581	1.335	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.66015	-0.6028	9	.	.	.	.	10.5608	0.45144	0.6981:0.0:0.3019:0.0	.	67	P63096	GNAI1_HUMAN	N	67;15;15;15	ENSP00000343027:K67N;ENSP00000389435:K15N;ENSP00000410572:K15N;ENSP00000388347:K15N	.	K	+	3	2	GNAI1	79656381	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	1.164000	0.31810	-0.309000	0.08779	0.477000	0.44152	AAA	GNAI1	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Fungi_Gprotein_alpha	ENSG00000127955		0.393	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI1	HGNC	protein_coding	OTTHUMT00000253254.1	-	0	53	0	A	NM_002069		79818445	1	tier1	-	no_errors	ENST00000351004	ensembl	human	known	74_37	missense	21.05	45	12	SNP	1.000	C	C	79818445	A	C	79818445	3	2	78	1	0	0	0	0	1	0	0	0	6530	40	2	4	211	4	GNAI1	7	79818445	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	6366408	79818445	79320218	120	20488											
ADAM22	53616	genome.wustl.edu	37	chr7	87792457	87792457	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcaactttagtacttgcTtgagcagtaaagaaggcact	12	13	8	8	0	1	2	1	1	0	1	1	2	1	2	0	1	4	5	0	1	6	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:87792457T>A	ENST00000265727.7	+	23	2117	c.2038T>A	c.(2038-2040)Ttg>Atg	p.L680M	ADAM22_ENST00000315984.7_Missense_Mutation_p.L680M|ADAM22_ENST00000398204.4_Missense_Mutation_p.L680M|ADAM22_ENST00000398209.3_Missense_Mutation_p.L680M|ADAM22_ENST00000398201.4_Missense_Mutation_p.L680M			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	680	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TAGTACTTGCTTGAGCAGTAA	0.418																																																	0													113	103	106					7																	87792457		1853	4089	5942	SO:0001583	missense	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"ADAM metallopeptidase domain containing"	201	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"	603709	"a disintegrin and metalloproteinase domain 22"			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2038T>A	7.37:g.87792457T>A	ENSP00000265727:p.Leu680Met		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L680M	ENST00000265727.7	37	c.2038	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532819	0.64972	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.62639	4.48;4.48;4.48;4.48;4.48;4.48;0.01	5.93	3.57	0.40892	Epidermal growth factor-like (1);	0.232871	0.36972	N	0.002314	T	0.63581	0.2523	L	0.51422	1.61	0.25008	N	0.991424	B;B;B;P	0.39535	0.419;0.329;0.221;0.677	B;B;B;P	0.49597	0.341;0.301;0.158;0.616	T	0.55490	-0.8133	10	0.46703	T	0.11	.	8.4947	0.33121	0.0:0.2234:0.0:0.7766	.	732;680;680;680	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	M	680;680;680;680;680;647;38	ENSP00000381262:L680M;ENSP00000381260:L680M;ENSP00000265727:L680M;ENSP00000315900:L680M;ENSP00000381267:L680M;ENSP00000381261:L647M;ENSP00000396233:L38M	ENSP00000265727:L680M	L	+	1	2	ADAM22	87630393	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	2.354000	0.44098	0.496000	0.27904	0.528000	0.53228	TTG	ADAM22	-	NULL	ENSG00000008277		0.418	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0	89	0	T	NM_021723		87792457	1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	20.24	67	17	SNP	1.000	A	A	87792457	T	A	87792457	3	1	78	1	0	0	0	0	1	0	0	0	244	1606	56	5	2128	5	ADAM22	7	87792457	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	7974012	87792457	71346206	121	20489											
ZNF804B	219578	genome.wustl.edu	37	chr7	88847525	88847525	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagatgtaaaggcaaacttTtactgtgaattatgtgacaa	16	12	9	4	0	0	3	0	2	0	1	0	4	0	3	0	1	2	2	0	1	8	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:88847525T>G	ENST00000333190.4	+	2	774	c.165T>G	c.(163-165)ttT>ttG	p.F55L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	55							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGGCAAACTTTTACTGTGAAT	0.363										HNSCC(36;0.09)																																							0													96	93	94					7																	88847525		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.165T>G	7.37:g.88847525T>G	ENSP00000329638:p.Phe55Leu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.F55L	ENST00000333190.4	37	c.165	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	T	21.7	4.194958	0.78902	.	.	ENSG00000182348	ENST00000333190	T	0.33216	1.42	5.31	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, double-stranded RNA binding (1);	0.000000	0.64402	D	0.000004	T	0.54759	0.1878	M	0.85462	2.755	0.41121	D	0.985814	D	0.89917	1.0	D	0.97110	1.0	T	0.60632	-0.7225	10	0.87932	D	0	-13.2578	12.7426	0.57261	0.0:0.6449:0.0:0.3551	.	55	A4D1E1	Z804B_HUMAN	L	55	ENSP00000329638:F55L	ENSP00000329638:F55L	F	+	3	2	ZNF804B	88685461	0.997000	0.39634	0.992000	0.48379	0.988000	0.76386	0.474000	0.22148	-0.345000	0.08325	-0.534000	0.04291	TTT	ZNF804B	-	pfam_Znf_C2H2_jaz	ENSG00000182348		0.363	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	95	0	T	NM_181646		88847525	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	44.74	42	34	SNP	1.000	G	G	88847525	T	G	88847525	3	3	78	1	0	0	0	0	1	0	0	0	18219	1838	64	4	171	4	ZNF804B	7	88847525	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	1055068	88847525	70291138	122	20490											
CDK6	1021	genome.wustl.edu	37	chr7	92247520	92247520	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgggagtccaatcaCgctacaaaagaaccacacat	14	8	6	13	1	2	1	1	0	1	1	4	2	3	2	3	1	2	1	3	1	5	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:92247520C>T	ENST00000265734.4	-	7	1111	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	CDK6_ENST00000424848.2_Splice_Site_p.V234M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGTCCAATCACGCTACAAAAG	0.443			T	MLLT10	ALL																																			Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													98	96	97					7																	92247520		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.699-1G>A	7.37:g.92247520C>T			A4D1G0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V234M	ENST00000265734.4	37	c.700	CCDS5628.1	7	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794602	0.50102	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.66638	-0.22;-0.22	5.81	3.99	0.46301	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.110389	0.64402	D	0.000009	T	0.55924	0.1951	L	0.33624	1.015	0.80722	D	1	P	0.51449	0.945	B	0.42188	0.379	T	0.56269	-0.8007	10	0.48119	T	0.1	-16.6338	12.6632	0.56826	0.0:0.8648:0.0:0.1352	.	234	Q00534	CDK6_HUMAN	M	234	ENSP00000265734:V234M;ENSP00000397087:V234M	ENSP00000265734:V234M	V	-	1	0	CDK6	92085456	0.896000	0.30565	0.400000	0.26346	0.563000	0.35712	1.795000	0.38784	0.776000	0.33473	0.655000	0.94253	GTG	CDK6	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105810		0.443	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	-	0	76	0	C		Missense_Mutation	92247520	-1	tier1	-	no_errors	ENST00000265734	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.931	T	T	92247520	C	T	92247520	5	4	78	1	0	0	0	0	0	0	1	0	3155	550	19	1	288	1	CDK6	7	92247520	Splice_Site	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3399995	92247520	66891143	123	20491											
SMURF1	57154	genome.wustl.edu	37	chr7	98636024	98636024	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaccggacgtattcttTcttattctcctctgtgactg	6	17	7	11	2	4	1	0	1	4	0	5	2	4	2	2	1	1	2	2	1	3	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:98636024T>G	ENST00000361125.1	-	15	2072	c.1753A>C	c.(1753-1755)Aaa>Caa	p.K585Q	AC004893.11_ENST00000360902.1_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.K559Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	585	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			ACGTATTCTTTCTTATTCTCC	0.577																																																	0													100	83	89					7																	98636024		2203	4300	6503	SO:0001583	missense	0			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1753A>C	7.37:g.98636024T>G	ENSP00000354621:p.Lys585Gln		A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.K585Q	ENST00000361125.1	37	c.1753	CCDS34690.1	7	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311523	0.60414	.	.	ENSG00000198742	ENST00000361368;ENST00000361125	T;T	0.58940	0.3;0.3	5.5	5.5	0.81552	HECT (4);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	L	0.35723	1.085	0.80722	D	1	P;P;P	0.51449	0.703;0.945;0.748	B;P;P	0.51974	0.343;0.686;0.474	T	0.63782	-0.6559	10	0.62326	D	0.03	.	15.9147	0.79503	0.0:0.0:0.0:1.0	.	559;585;559	Q9HCE7-2;Q9HCE7;B9EGV3	.;SMUF1_HUMAN;.	Q	559;585	ENSP00000355326:K559Q;ENSP00000354621:K585Q	ENSP00000354621:K585Q	K	-	1	0	SMURF1	98473960	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	7.655000	0.83696	2.227000	0.72691	0.460000	0.39030	AAA	SMURF1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000198742		0.577	SMURF1-001	KNOWN	basic|CCDS	protein_coding	SMURF1	HGNC	protein_coding	OTTHUMT00000335001.2	-	0	48	0	T	NM_020429		98636024	-1	tier1	-	no_errors	ENST00000361125	ensembl	human	known	74_37	missense	27.27	56	21	SNP	1.000	G	G	98636024	T	G	98636024	3	3	78	1	0	0	0	0	1	0	0	0	14864	1792	62	4	540	4	SMURF1	7	98636024	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	6388504	98636024	60502639	124	20492											
RABL5	64792	genome.wustl.edu	37	chr7	100959718	100959718	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggctgttggacaaagcaGgaataccacatctccatttc	12	9	9	11	1	1	0	0	0	1	0	3	3	1	2	2	3	2	3	2	3	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:100959718G>T	ENST00000315322.4	-	4	405	c.312C>A	c.(310-312)tcC>tcA	p.S104S	RABL5_ENST00000498704.2_Silent_p.S27S|RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Silent_p.S74S|RABL5_ENST00000517481.1_Silent_p.S27S	NM_022777.2	NP_073614.1	Q9H7X7	IFT22_HUMAN		104					small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GGACAAAGCAGGAATACCACA	0.507																																																	0													207	176	186					7																	100959718		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000315322.4:c.312C>A	7.37:g.100959718G>T			Q49AG1|Q69YV5|Q9BSW4	Silent	SNP	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.S104	ENST00000315322.4	37	c.312	CCDS5719.1	7																																																																																			RABL5	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	ENSG00000128581		0.507	RABL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABL5	HGNC	protein_coding	OTTHUMT00000347565.1	-	0	68	0	G			100959718	-1	tier1	-	no_errors	ENST00000315322	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.830	T	T	100959718	G	T	100959718	2	4	78	1	0	0	0	0	0	0	0	1	13018	987	35	3		3	RABL5	7	100959718	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	2323694	100959718	58178945	125	20493											
MLL5	55904	genome.wustl.edu	37	chr7	104750981	104750981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcagtcttcaccttcatCtcattcaaatcacatacccc	10	14	2	15	0	7	0	6	0	2	0	8	0	7	0	3	0	1	1	3	0	2	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:104750981C>G	ENST00000311117.3	+	25	4447	c.3902C>G	c.(3901-3903)tCt>tGt	p.S1301C	KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000334914.7_Missense_Mutation_p.S356C|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1301C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1301					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TCACCTTCATCTCATTCAAAT	0.453																																																	0													224	215	218					7																	104750981		2203	4300	6503	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3902C>G	7.37:g.104750981C>G	ENSP00000312379:p.Ser1301Cys		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.S1301C	ENST00000311117.3	37	c.3902	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273541	0.80580	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000351043;ENST00000257745;ENST00000334914	D;D;T	0.92348	-3.02;-3.02;0.72	5.08	4.18	0.49190	.	0.101729	0.44483	N	0.000456	D	0.86037	0.5837	N	0.24115	0.695	0.38850	D	0.956255	B	0.14805	0.011	B	0.09377	0.004	T	0.82898	-0.0229	10	0.56958	D	0.05	.	13.4985	0.61440	0.0:0.702:0.298:0.0	.	1301	Q8IZD2	MLL5_HUMAN	C	1301;1301;1221;1301;356	ENSP00000312379:S1301C;ENSP00000257745:S1301C;ENSP00000333986:S356C	ENSP00000257745:S1301C	S	+	2	0	MLL5	104538217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.442000	0.44873	1.235000	0.43724	0.561000	0.74099	TCT	KMT2E	-	NULL	ENSG00000005483		0.453	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	28	0	C			104750981	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	G	G	104750981	C	G	104750981	3	3	78	1	0	0	0	0	1	0	0	0	9662	913	32	5	3992	5	MLL5	7	104750981	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3791263	104750981	54387682	126	20494											
C7orf58	79974	genome.wustl.edu	37	chr7	120740003	120740003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacgacagtccttgctcCacatgaaacaatctttcgag	13	10	7	11	2	1	2	0	2	1	0	4	4	3	2	2	0	3	1	2	0	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:120740003C>T	ENST00000310396.5	+	7	1240	c.773C>T	c.(772-774)cCa>cTa	p.P258L	CPED1_ENST00000450913.2_Missense_Mutation_p.P258L|CPED1_ENST00000423795.1_Missense_Mutation_p.P38L	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	258						endoplasmic reticulum (GO:0005783)											GTCCTTGCTCCACATGAAACA	0.383																																																	0													138	119	126					7																	120740003		2203	4300	6503	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.773C>T	7.37:g.120740003C>T	ENSP00000309772:p.Pro258Leu		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	NULL	p.P258L	ENST00000310396.5	37	c.773	CCDS34739.1	7	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342257	0.24339	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.46063	2.21;0.88;1.86;1.95;1.52	5.58	2.81	0.32909	.	0.613030	0.16467	N	0.213152	T	0.39410	0.1077	M	0.65975	2.015	0.09310	N	1	P;B;B	0.50369	0.934;0.0;0.124	B;B;B	0.43754	0.43;0.002;0.02	T	0.38929	-0.9638	10	0.72032	D	0.01	.	4.2206	0.10556	0.3249:0.5071:0.0:0.168	.	38;258;258	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	L	258;258;258;38;38	ENSP00000309772:P258L;ENSP00000398082:P258L;ENSP00000406122:P258L;ENSP00000415573:P38L;ENSP00000391952:P38L	ENSP00000309772:P258L	P	+	2	0	C7orf58	120527239	0.000000	0.05858	0.294000	0.24946	0.050000	0.14768	0.045000	0.14013	0.735000	0.32537	-1.079000	0.02226	CCA	CPED1	-	NULL	ENSG00000106034		0.383	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	-	0	62	0	C	NM_024913		120740003	1	tier1	-	no_errors	ENST00000310396	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.002	T	T	120740003	C	T	120740003	3	4	78	1	0	0	0	0	1	0	0	0	2412	594	21	3	795	3	C7orf58	7	120740003	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	15989022	120740003	38398660	127	20495											
AASS	10157	genome.wustl.edu	37	chr7	121741706	121741706	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaaaaattctgacttTcaagaggctgtgtcgcgtct	11	11	11	8	2	3	3	1	1	2	2	4	4	3	3	0	2	0	1	0	2	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:121741706T>G	ENST00000393376.1	-	11	1402	c.1307A>C	c.(1306-1308)gAa>gCa	p.E436A	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.E436A			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	436	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATTCTGACTTTCAAGAGGCTG	0.348																																																	0													51	53	52					7																	121741706		2203	4298	6501	SO:0001583	missense	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1307A>C	7.37:g.121741706T>G	ENSP00000377040:p.Glu436Ala		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.E436A	ENST00000393376.1	37	c.1307	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079862	0.55753	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	.	.	.	5.67	5.67	0.87782	.	0.086699	0.85682	D	0.000000	T	0.72020	0.3409	M	0.76838	2.35	0.58432	D	0.999998	D	0.54964	0.969	P	0.51742	0.678	T	0.72027	-0.4414	9	0.30854	T	0.27	-29.7564	15.8627	0.79038	0.0:0.0:0.0:1.0	.	436	Q9UDR5	AASS_HUMAN	A	436	.	ENSP00000351834:E436A	E	-	2	0	AASS	121528942	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.805000	0.69143	2.281000	0.76405	0.533000	0.62120	GAA	AASS	-	NULL	ENSG00000008311		0.348	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1		0	48	0	T	NM_005763		121741706	-1			no_errors	ENST00000393376	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	G	G	121741706	T	G	121741706	3	3	78	1	0	0	0	0	1	0	0	0	24	1783	62	4	1525	4	AASS	7	121741706	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	1001703	121741706	37396957	128	20496											
TMEM209	84928	genome.wustl.edu	37	chr7	129843914	129843914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatcttgatggttctgtCaataagggaagcactagggt	10	13	11	7	0	4	1	2	1	3	0	5	2	4	2	0	3	1	2	0	3	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:129843914C>A	ENST00000397622.2	-	2	162	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	TMEM209_ENST00000473456.1_Missense_Mutation_p.D14Y|TMEM209_ENST00000336804.8_Missense_Mutation_p.D13Y|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.D13Y	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	14						integral component of membrane (GO:0016021)		p.D13N(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATGGTTCTGTCAATAAGGGAA	0.398																																																	1	Substitution - Missense(1)	lung(1)											93	81	85					7																	129843914		1868	4081	5949	SO:0001583	missense	0				CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.40G>T	7.37:g.129843914C>A	ENSP00000380747:p.Asp14Tyr		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	pfam_Cytochrome_B561-rel	p.D14Y	ENST00000397622.2	37	c.40	CCDS47712.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.168903	0.94768	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985;ENST00000471077	T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39	5.66	5.66	0.87406	.	0.040555	0.85682	D	0.000000	T	0.61912	0.2385	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.961;0.988;0.977	T	0.62604	-0.6819	10	0.72032	D	0.01	-20.4628	19.1131	0.93326	0.0:1.0:0.0:0.0	.	14;14;14	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	Y	14;13;14;13;14;57;13	ENSP00000380747:D14Y;ENSP00000419697:D13Y;ENSP00000417258:D14Y;ENSP00000338388:D13Y;ENSP00000419852:D57Y;ENSP00000418474:D13Y	ENSP00000338388:D13Y	D	-	1	0	TMEM209	129631150	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.950000	0.75977	2.832000	0.97577	0.655000	0.94253	GAC	TMEM209	-	pfam_Cytochrome_B561-rel	ENSG00000146842		0.398	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM209	HGNC	protein_coding	OTTHUMT00000349339.1	-	0	45	0	C	NM_032842		129843914	-1	tier1	-	no_errors	ENST00000397622	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	129843914	C	A	129843914	3	1	78	1	0	0	0	0	1	0	0	0	16181	826	29	3	1701	3	TMEM209	7	129843914	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	8102208	129843914	29294749	129	20497											
NUP205	23165	genome.wustl.edu	37	chr7	135255953	135255953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcttgataagattttGaagaaacacaaacctgactt	15	12	5	9	0	1	5	0	3	1	2	1	5	1	5	2	0	2	0	2	0	4	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:135255953G>T	ENST00000285968.6	+	2	155	c.129G>T	c.(127-129)ttG>ttT	p.L43F	NUP205_ENST00000489493.1_3'UTR|NUP205_ENST00000440390.2_5'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	43					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAAGATTTTGAAGAAACACA	0.353																																																	0													80	82	81					7																	135255953		2203	4300	6503	SO:0001583	missense	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.129G>T	7.37:g.135255953G>T	ENSP00000285968:p.Leu43Phe		A6H8X3|Q86YC1	Missense_Mutation	SNP	pfam_Nup186/Nup192/Nup205	p.L43F	ENST00000285968.6	37	c.129	CCDS34759.1	7	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879786	0.51801	.	.	ENSG00000155561	ENST00000285968	T	0.59638	0.25	5.44	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.79011	2.435	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73081	-0.4095	10	0.87932	D	0	-5.7079	8.7563	0.34648	0.3312:0.0:0.6688:0.0	.	43	Q92621	NU205_HUMAN	F	43	ENSP00000285968:L43F	ENSP00000285968:L43F	L	+	3	2	NUP205	134906493	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	2.970000	0.49240	0.684000	0.31448	-1.128000	0.01989	TTG	NUP205	-	pfam_Nup186/Nup192/Nup205	ENSG00000155561		0.353	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	-	0	35	0	G			135255953	1	tier1	-	no_errors	ENST00000285968	ensembl	human	known	74_37	missense	8.22	67	6	SNP	1.000	T	T	135255953	G	T	135255953	3	4	78	1	0	0	0	0	1	0	0	0	10798	1281	45	3	135	3	NUP205	7	135255953	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5412039	135255953	23882710	130	20498											
NUP205	23165	genome.wustl.edu	37	chr7	135304439	135304440	+	Splice_Site	INS	-	-	T																															gacttcattttgaagacaggINStttttttcatttaaattgtc																										TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:135304439_135304440insT	ENST00000285968.6	+	29	4257		c.e29+1			NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGAAGACAGGTTTTTTTCATT	0.312																																																	0																																										SO:0001630	splice_region_variant	0			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"chromosome 7 open reading frame 14"	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.4231+1->T	7.37:g.135304446_135304446dupT			A6H8X3|Q86YC1	Splice_Site	INS	-	e29+1	ENST00000285968.6	37	c.4231+1_4231+1	CCDS34759.1	7																																																																																			NUP205	-	-	ENSG00000155561		0.312	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1		0	62	0	-		Intron	135304440	1	tier1		no_errors	ENST00000285968	ensembl	human	known	74_37	splice_site_ins	7.50	74	6	INS	1.000:0.997	T	T	135304440	-	T	135304439	8	5	78	1	0	1	1	0	0	0	1	0	10798	1275	44	0	4346	0	NUP205	7	135304439	Splice_Site	INS	-	TCGA-L5-A893-01A-11D-A36J-09	48486	135304439	23834224	131	20499											
EPHA1	2041	genome.wustl.edu	37	chr7	143088619	143088619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgtgattcccatctgCgtcaggtccctgtgggcaag	6	10	14	11	1	2	1	1	1	1	0	4	1	4	1	2	3	1	2	2	3	1	1	rs151021159		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:143088619C>T	ENST00000275815.3	-	18	2948	c.2862G>A	c.(2860-2862)acG>acA	p.T954T	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	954	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCCCATCTGCGTCAGGTCCC	0.622																																																	0								C		0,4406		0,0,2203	70	50	57		2862	-10.5	0	7	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPHA1	NM_005232.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		954/977	143088619	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2862G>A	7.37:g.143088619C>T			A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T954	ENST00000275815.3	37	c.2862	CCDS5884.1	7																																																																																			EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000146904		0.622	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1		0	57	0	C			143088619	-1			no_errors	ENST00000275815	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.000	T	T	143088619	C	T	143088619	2	4	78	1	0	0	0	0	0	0	0	1	5181	755	27	1		1	EPHA1	7	143088619	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	7784180	143088619	16050044	132	20500											
OR2A14	135941	genome.wustl.edu	37	chr7	143826277	143826277	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtccagcactggagatTctcctctgtggacttttctc	5	15	10	11	0	3	1	0	0	3	1	6	3	4	2	2	3	1	2	2	3	0	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:143826277T>C	ENST00000408899.2	+	1	127	c.72T>C	c.(70-72)atT>atC	p.I24I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CACTGGAGATTCTCCTCTGTG	0.512																																																	0													130	128	129					7																	143826277		2042	4202	6244	SO:0001819	synonymous_variant	0				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.72T>C	7.37:g.143826277T>C			Q6IF41|Q8NGT8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I24	ENST00000408899.2	37	c.72	CCDS43672.1	7																																																																																			OR2A14	-	NULL	ENSG00000221938		0.512	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	-	0	96	0	T			143826277	1	tier1	-	no_errors	ENST00000408899	ensembl	human	known	74_37	silent	20.66	96	25	SNP	0.000	C	C	143826277	T	C	143826277	2	2	78	1	0	0	0	0	0	0	0	1	11015	1771	62	4		4	OR2A14	7	143826277	Silent	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	737658	143826277	15312386	133	20501											
CNTNAP2	26047	genome.wustl.edu	37	chr7	147600656	147600656	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttgccttttcttgtaGatggaagcccttacacttgg	7	16	8	10	0	1	1	0	0	1	1	1	2	1	2	3	2	4	1	3	2	4	8			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:147600656G>T	ENST00000361727.3	+	14	2614		c.e14-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTTCTTGTAGATGGAAGCCC	0.493										HNSCC(39;0.1)																																							0													67	63	65					7																	147600656		2203	4300	6503	SO:0001630	splice_region_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2099-1G>T	7.37:g.147600656G>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Splice_Site	SNP	-	e14-1	ENST00000361727.3	37	c.2099-1	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367559	0.61513	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4119	0.90554	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTNAP2	147231589	1.000000	0.71417	0.997000	0.53966	0.454000	0.32378	9.756000	0.98918	2.700000	0.92200	0.563000	0.77884	.	CNTNAP2	-	-	ENSG00000174469		0.493	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1		0	35	0	G		Intron	147600656	1			no_errors	ENST00000361727	ensembl	human	known	74_37	splice_site	5.41	35	2	SNP	1.000	T	T	147600656	G	T	147600656	5	4	78	1	0	0	0	0	0	0	1	0	3654	956	33	3	2152	3	CNTNAP2	7	147600656	Splice_Site	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3774379	147600656	11538007	134	20502											
SSPO	23145	genome.wustl.edu	37	chr7	149484538	149484538	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactttgatggagatgccaGtaatgatctgcggagccgcc	9	10	13	9	2	1	4	0	3	1	1	1	6	1	5	3	2	3	1	3	2	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:149484538G>T	ENST00000378016.2	+	0	3461							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGAGATGCCAGTAATGATCTG	0.642																																																	0													66	78	74					7																	149484538		2175	4265	6440			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484538G>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	38	0	G			149484538	1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	6.78	55	4	SNP	0.976	T	T	149484538	G	T	149484538	1	4	78	0	1	0	0	0	0	0	0	0	15236	1029	36	3		3	SSPO	7	149484538	RNA	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1883882	149484538	9654125	135	20503											
PRKAG2	51422	genome.wustl.edu	37	chr7	151262817	151262817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaaacctgactcatccAcaacaggcagagctgatatt	15	7	6	13	0	1	3	1	2	0	1	2	3	2	3	2	1	3	2	2	1	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr7:151262817A>T	ENST00000287878.4	-	12	1892	c.1388T>A	c.(1387-1389)gTg>gAg	p.V463E	PRKAG2_ENST00000418337.2_Missense_Mutation_p.V222E|PRKAG2_ENST00000392801.2_Missense_Mutation_p.V419E|PRKAG2_ENST00000492843.1_Missense_Mutation_p.V339E|PRKAG2_ENST00000433631.2_Missense_Mutation_p.V338E	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	463	CBS 3. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.V463G(1)|p.V338G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	TGACTCATCCACAACAGGCAG	0.443																																																	2	Substitution - Missense(2)	kidney(2)											207	176	187					7																	151262817		2203	4300	6503	SO:0001583	missense	0			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"AMPK gamma2"	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.1388T>A	7.37:g.151262817A>T	ENSP00000287878:p.Val463Glu		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	pfam_CBS_dom,smart_CBS_dom	p.V463E	ENST00000287878.4	37	c.1388	CCDS5928.1	7	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951752	0.92660	.	.	ENSG00000106617	ENST00000418337;ENST00000287878;ENST00000492843;ENST00000433631;ENST00000392801	D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02	6.06	6.06	0.98353	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.993;0.997	D	0.99612	1.0981	10	0.87932	D	0	.	15.7905	0.78357	1.0:0.0:0.0:0.0	.	338;463	B7Z6X8;Q9UGJ0	.;AAKG2_HUMAN	E	222;463;339;338;419	ENSP00000387386:V222E;ENSP00000287878:V463E;ENSP00000419577:V339E;ENSP00000406544:V338E;ENSP00000376549:V419E	ENSP00000287878:V463E	V	-	2	0	PRKAG2	150893750	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.999000	0.93557	2.324000	0.78689	0.533000	0.62120	GTG	PRKAG2	-	pfam_CBS_dom,smart_CBS_dom	ENSG00000106617		0.443	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	-	0	54	0	A	NM_016203		151262817	-1	tier1	-	no_errors	ENST00000287878	ensembl	human	known	74_37	missense	21.35	70	19	SNP	1.000	T	T	151262817	A	T	151262817	3	4	78	1	0	0	0	0	1	0	0	0	12543	159	6	5	341	5	PRKAG2	7	151262817	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	1778279	151262817	7875846	136	20504											
CSMD1	64478	genome.wustl.edu	37	chr8	3072198	3072198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttcctgggtcaaaacaaGcttcccgtggtttctctgtg	7	15	9	10	1	2	0	1	0	1	0	5	0	4	0	2	2	2	2	2	2	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:3072198G>T	ENST00000520002.1	-	31	5246	c.4691C>A	c.(4690-4692)gCt>gAt	p.A1564D	CSMD1_ENST00000542608.1_Missense_Mutation_p.A1563D|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1564D|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1564D|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1563D|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1563D|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1564D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1564	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTCAAAACAAGCTTCCCGTGG	0.408																																																	0													64	60	61					8																	3072198		1819	3917	5736	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4691C>A	8.37:g.3072198G>T	ENSP00000430733:p.Ala1564Asp		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A1564D	ENST00000520002.1	37	c.4691		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.815966|4.815966	0.90790|0.90790	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.27104|.	1.69;1.81;1.84;1.69;2.17|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Complement control module (2);Sushi/SCR/CCP (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.58609|0.58609	0.2134|0.2134	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	D;P;D|.	0.67145|.	0.996;0.899;0.989|.	D;P;D|.	0.73380|.	0.98;0.573;0.948|.	T|T	0.52953|0.52953	-0.8506|-0.8506	10|5	0.45353|.	T|.	0.12|.	.|.	19.1646|19.1646	0.93551|0.93551	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1564;1564;1564|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	D|R	1564;1564;1426;1563;1563;1563|1043	ENSP00000383047:A1564D;ENSP00000430733:A1564D;ENSP00000441462:A1563D;ENSP00000446243:A1563D;ENSP00000441675:A1563D|.	ENSP00000320445:A1426D|.	A|S	-|-	2|3	0|2	CSMD1|CSMD1	3059605|3059605	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.959000|0.959000	0.62525|0.62525	9.576000|9.576000	0.98192|0.98192	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	GCT|AGC	CSMD1	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	41	0	G	NM_033225		3072198	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	3072198	G	T	3072198	3	4	78	1	0	0	0	0	1	0	0	0	3953	971	34	3	6170	3	CSMD1	8	3072198	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		3072198	143291824	137	20505											
CSMD1	64478	genome.wustl.edu	37	chr8	3087592	3087592	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagggtctggttgccaaaAgaaccggttattcagctgca	11	9	13	8	1	2	1	1	0	1	1	2	2	2	2	2	4	4	4	2	4	4	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:3087592A>C	ENST00000520002.1	-	28	4873	c.4318T>G	c.(4318-4320)Ttt>Gtt	p.F1440V	CSMD1_ENST00000542608.1_Missense_Mutation_p.F1439V|CSMD1_ENST00000400186.3_Missense_Mutation_p.F1440V|CSMD1_ENST00000602557.1_Missense_Mutation_p.F1440V|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1439V|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1439V|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1440V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1440	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTTGCCAAAAGAACCGGTTA	0.473																																																	0													105	101	102					8																	3087592		1926	4137	6063	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4318T>G	8.37:g.3087592A>C	ENSP00000430733:p.Phe1440Val		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F1440V	ENST00000520002.1	37	c.4318		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.1|20.1	3.935518|3.935518	0.73442|0.73442	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06|.	6.16|6.16	6.16|6.16	0.99307|0.99307	Complement control module (2);Sushi/SCR/CCP (3);|.	0.076199|.	0.53938|.	D|.	0.000044|.	T|T	0.51278|0.51278	0.1665|0.1665	N|N	0.17248|0.17248	0.465|0.465	0.53688|0.53688	D|D	0.999973|0.999973	D;P;B|.	0.53619|.	0.961;0.76;0.338|.	P;P;B|.	0.60682|.	0.878;0.61;0.281|.	T|T	0.48293|0.48293	-0.9048|-0.9048	10|5	0.48119|.	T|.	0.1|.	.|.	16.8061|16.8061	0.85666|0.85666	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1440;1440;1440|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	V|R	1440;1440;1302;1439;1439;1439|919	ENSP00000383047:F1440V;ENSP00000430733:F1440V;ENSP00000441462:F1439V;ENSP00000446243:F1439V;ENSP00000441675:F1439V|.	ENSP00000320445:F1302V|.	F|L	-|-	1|2	0|0	CSMD1|CSMD1	3074999|3074999	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.803000|0.803000	0.45373|0.45373	9.115000|9.115000	0.94336|0.94336	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	TTT|CTT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.473	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	61	0	A	NM_033225		3087592	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	C	C	3087592	A	C	3087592	3	2	78	1	0	0	0	0	1	0	0	0	3953	72	3	4	6555	4	CSMD1	8	3087592	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	15394	3087592	143276430	138	20506											
UNC5D	137970	genome.wustl.edu	37	chr8	35588557	35588557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttactcataccacacggtgCcatcccagaggagaattctt	11	10	7	13	1	2	2	1	0	1	2	3	3	3	2	3	2	3	0	3	2	3	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:35588557C>T	ENST00000404895.2	+	11	2037	c.1709C>T	c.(1708-1710)gCc>gTc	p.A570V	UNC5D_ENST00000420357.1_Missense_Mutation_p.A503V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A565V|UNC5D_ENST00000287272.2_Missense_Mutation_p.A501V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A146V|UNC5D_ENST00000416672.1_Missense_Mutation_p.A575V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	570	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCACACGGTGCCATCCCAGAG	0.428																																																	0													95	94	94					8																	35588557		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1709C>T	8.37:g.35588557C>T	ENSP00000385143:p.Ala570Val		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.A570V	ENST00000404895.2	37	c.1709	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459866	0.84317	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.79	5.79	0.91817	ZU5 (2);	0.046598	0.85682	D	0.000000	T	0.73999	0.3659	M	0.85710	2.77	0.80722	D	1	D;P;D	0.61080	0.989;0.873;0.961	P;P;P	0.60236	0.871;0.544;0.673	T	0.77945	-0.2397	10	0.87932	D	0	-24.3952	18.2119	0.89873	0.0:1.0:0.0:0.0	.	146;565;570	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	570;503;501;575;565;146	ENSP00000385143:A570V;ENSP00000392739:A503V;ENSP00000287272:A501V;ENSP00000412652:A575V;ENSP00000394303:A565V;ENSP00000397211:A146V	ENSP00000287272:A501V	A	+	2	0	UNC5D	35708099	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.307000	0.59123	2.746000	0.94184	0.655000	0.94253	GCC	UNC5D	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000156687		0.428	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2		0	92	0	C			35588557	1			no_errors	ENST00000404895	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	T	T	35588557	C	T	35588557	3	4	78	1	0	0	0	0	1	0	0	0	17044	739	26	3	1751	3	UNC5D	8	35588557	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	32500965	35588557	110775465	139	20507											
CPA6	57094	genome.wustl.edu	37	chr8	68658271	68658271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatagcggttgttataaaGgtggctgtgccccggttgca	8	11	14	8	2	0	0	0	0	0	0	0	0	0	0	2	4	4	6	2	4	4	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:68658271G>T	ENST00000297770.4	-	1	309	c.94C>A	c.(94-96)Ctt>Att	p.L32I	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.L32I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	32						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			TTGTTATAAAGGTGGCTGTGC	0.532																																																	0													47	45	46					8																	68658271		2203	4300	6503	SO:0001583	missense	0			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.94C>A	8.37:g.68658271G>T	ENSP00000297770:p.Leu32Ile		Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.L32I	ENST00000297770.4	37	c.94	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630987	0.28978	.	.	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.50001	0.76;0.76	5.5	3.67	0.42095	Proteinase inhibitor, propeptide (1);	0.557131	0.15995	N	0.234638	T	0.22589	0.0545	N	0.08118	0	0.80722	D	1	B;B	0.30937	0.301;0.018	B;B	0.27715	0.082;0.017	T	0.03863	-1.0997	10	0.18710	T	0.47	.	6.2157	0.20653	0.0962:0.0:0.719:0.1848	.	32;32	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	I	32	ENSP00000297770:L32I;ENSP00000431112:L32I	ENSP00000297770:L32I	L	-	1	0	CPA6	68820825	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.242000	0.32755	0.648000	0.30732	0.655000	0.94253	CTT	CPA6	-	superfamily_Prot_inh_propept	ENSG00000165078		0.532	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	-	0	47	0	G	NM_020361		68658271	-1	tier1	-	no_errors	ENST00000297770	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T	T	68658271	G	T	68658271	3	4	78	1	0	0	0	0	1	0	0	0	3801	1000	35	3	1263	3	CPA6	8	68658271	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	33069714	68658271	77705751	140	20508											
C8orf38	137682	genome.wustl.edu	37	chr8	96047735	96047736	+	Frame_Shift_Ins	INS	-	-	A																															tgatgcgaatgcagttttggINSaaaaaaactgtggaagatat																										TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:96047735_96047736insA	ENST00000396124.4	+	3	374_375	c.351_352insA	c.(352-354)aaafs	p.K118fs	NDUFAF6_ENST00000396111.2_Frame_Shift_Ins_p.K26fs|NDUFAF6_ENST00000542894.1_Frame_Shift_Ins_p.K66fs|NDUFAF6_ENST00000396113.1_Frame_Shift_Ins_p.K26fs|NDUFAF6_ENST00000286687.4_5'UTR	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	118					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										TGCAGTTTTGGAAAAAAACTGT	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"Mitochondrial respiratory chain complex assembly factors"	28625	protein-coding gene	gene with protein product		612392	"chromosome 8 open reading frame 38"	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.358dupA	8.37:g.96047742_96047742dupA	ENSP00000379430:p.Lys118fs		A8MT28|A8MWF0|B4DQ45|Q8N6U6	Frame_Shift_Ins	INS	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth	p.T119fs	ENST00000396124.4	37	c.351_352	CCDS6266.2	8																																																																																			NDUFAF6	-	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth	ENSG00000156170		0.347	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF6	HGNC	protein_coding	OTTHUMT00000316700.2		0	150	0	-	NM_152416		96047736	1	tier1		no_errors	ENST00000396124	ensembl	human	known	74_37	frame_shift_ins	25.00	72	24	INS	1.000:1.000	A	A	96047736	-	A	96047735	7	5	78	1	0	1	1	0	0	0	0	0	2431	1183	41	0	361	0	C8orf38	8	96047735	Frame_Shift_Ins	INS	-	TCGA-L5-A893-01A-11D-A36J-09	27389464	96047735	50316287	141	20509											
LRP12	29967	genome.wustl.edu	37	chr8	105510194	105510194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggcacagatctcttcatCggaactatctccacattcat	10	14	5	12	1	4	1	2	0	2	1	7	2	4	2	1	2	1	1	1	2	2	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:105510194C>T	ENST00000276654.5	-	5	694	c.586G>A	c.(586-588)Gat>Aat	p.D196N	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.D177N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	196	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATCTCTTCATCGGAACTATCT	0.423																																																	0													189	170	177					8																	105510194		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.586G>A	8.37:g.105510194C>T	ENSP00000276654:p.Asp196Asn		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.D177N	ENST00000276654.5	37	c.529	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702550	0.88924	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.99214	-5.57;-5.57	5.38	5.38	0.77491	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.97758	4.07	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	D	0.97403	0.9997	10	0.87932	D	0	-25.5047	19.1664	0.93559	0.0:1.0:0.0:0.0	.	177;196	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	N	177;196	ENSP00000399148:D177N;ENSP00000276654:D196N	ENSP00000276654:D196N	D	-	1	0	LRP12	105579370	1.000000	0.71417	0.938000	0.37757	0.895000	0.52256	7.487000	0.81328	2.524000	0.85096	0.563000	0.77884	GAT	LRP12	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	ENSG00000147650		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1		0	64	0	C	NM_013437		105510194	-1			no_errors	ENST00000424843	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	105510194	C	T	105510194	3	4	78	1	0	0	0	0	1	0	0	0	8989	884	31	1	2005	1	LRP12	8	105510194	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	9462459	105510194	40853828	142	20510											
TRPS1	7227	genome.wustl.edu	37	chr8	116617135	116617135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgagttgcccatataaGtgaaattgcagaatttacag	14	12	10	5	0	0	3	0	2	0	1	0	4	0	4	1	1	3	2	1	1	5	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:116617135G>T	ENST00000220888.5	-	3	1181	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	TRPS1_ENST00000520276.1_Missense_Mutation_p.T345N|TRPS1_ENST00000519076.1_Missense_Mutation_p.T295N|TRPS1_ENST00000519674.1_Missense_Mutation_p.T341N|TRPS1_ENST00000395715.3_Missense_Mutation_p.T354N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	341					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCCCATATAAGTGAAATTGCA	0.433									Langer-Giedion syndrome																																								0													99	97	97					8																	116617135		1876	4101	5977	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1022C>A	8.37:g.116617135G>T	ENSP00000220888:p.Thr341Asn		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.T354N	ENST00000220888.5	37	c.1061		8	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137345	0.77775	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.01448	-1.1352	10	0.87932	D	0	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	345;341;354	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	354;341;295;345;341	ENSP00000379065:T354N;ENSP00000220888:T341N;ENSP00000428910:T295N;ENSP00000428680:T345N;ENSP00000429174:T341N	ENSP00000220888:T341N	T	-	2	0	TRPS1	116686310	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	9.813000	0.99286	2.840000	0.97914	0.655000	0.94253	ACT	TRPS1	-	smart_Znf_C2H2-like	ENSG00000104447		0.433	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	63	0	G	NM_014112		116617135	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	116617135	G	T	116617135	3	4	78	1	0	0	0	0	1	0	0	0	16641	1029	36	3	2839	3	TRPS1	8	116617135	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11106941	116617135	29746887	143	20511											
SLC45A4	57210	genome.wustl.edu	37	chr8	142228285	142228285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgccctccccctcctcaCtctcggtgtccccgctggag	2	10	8	21	3	3	0	1	0	2	0	8	1	6	1	6	2	0	1	6	2	0	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:142228285C>T	ENST00000024061.3	-	4	1608	c.1301G>A	c.(1300-1302)aGt>aAt	p.S434N	SLC45A4_ENST00000519067.1_Missense_Mutation_p.S434N|SLC45A4_ENST00000433583.2_Missense_Mutation_p.S427N|SLC45A4_ENST00000517878.1_Missense_Mutation_p.S485N	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCCCTCCTCACTCTCGGTGTC	0.682																																																	0													60	52	54					8																	142228285		2203	4300	6503	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"Solute carriers"	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1301G>A	8.37:g.142228285C>T	ENSP00000024061:p.Ser434Asn		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S485N	ENST00000024061.3	37	c.1454	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899778	0.33535	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.07	5.07	0.68467	.	0.183328	0.64402	D	0.000009	T	0.78097	0.4230	M	0.68952	2.095	0.58432	D	0.999999	B;B;B	0.25272	0.074;0.122;0.061	B;B;B	0.27608	0.02;0.081;0.045	T	0.75036	-0.3459	10	0.38643	T	0.18	-31.3795	18.8194	0.92090	0.0:1.0:0.0:0.0	.	485;434;434	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	N	434;485;427;434	ENSP00000429059:S434N;ENSP00000428137:S485N;ENSP00000400799:S427N;ENSP00000024061:S434N	ENSP00000024061:S434N	S	-	2	0	SLC45A4	142297467	1.000000	0.71417	1.000000	0.80357	0.169000	0.22640	5.277000	0.65586	2.535000	0.85469	0.561000	0.74099	AGT	SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.682	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0	26	0	C	XM_050325		142228285	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	T	T	142228285	C	T	142228285	3	4	78	1	0	0	0	0	1	0	0	0	14688	565	20	3	1115	3	SLC45A4	8	142228285	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	25611150	142228285	4135737	144	20512											
RECQL4	113655	genome.wustl.edu	37	chr8	145739026	145739026	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatccgctctgtgtcctcgCgccggttgcagtaaatgata	7	11	11	12	5	1	1	0	1	1	0	4	2	3	1	3	1	1	4	3	1	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr8:145739026C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000428558.2_Missense_Mutation_p.R710H|RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGTGTCCTCGCGCCGGTTGCA	0.612																																																	0													28	33	31					8																	145739026		2084	4212	6296	SO:0001628	intergenic_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145739026C>T				Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.R710H	ENST00000301327.4	37	c.2129	CCDS6431.1	8																																																																																			RECQL4	-	superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000160957		0.612	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL4	HGNC	protein_coding	OTTHUMT00000382478.2	-	0	38	0	C	NM_138431		145739026	-1	tier1	-	no_errors	ENST00000428558	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.990	T	T	145739026	C	T	145739026	1	4	78	0	1	0	0	0	0	0	0	0	13247	768	27	1		1	RECQL4	8	145739026	IGR	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3510741	145739026	624996	145	20513											
KANK1	23189	genome.wustl.edu	37	chr9	730134	730134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatcccagcctgagcaaGaagtggggacctcagaagga	14	4	13	10	0	1	4	1	1	0	3	2	6	2	6	3	3	2	1	3	3	3	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:730134G>T	ENST00000382303.1	+	8	3434	c.2782G>T	c.(2782-2784)Gaa>Taa	p.E928*	KANK1_ENST00000382293.3_Nonsense_Mutation_p.E770*|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.E928*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	928					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCCTGAGCAAGAAGTGGGGAC	0.522																																																	0													71	61	64					9																	730134		2203	4300	6503	SO:0001587	stop_gained	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2782G>T	9.37:g.730134G>T	ENSP00000371740:p.Glu928*		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E928*	ENST00000382303.1	37	c.2782	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	45	12.078987	0.99634	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	.	.	.	5.91	5.02	0.67125	.	0.337537	0.25581	N	0.029684	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-12.7557	13.2538	0.60066	0.073:0.0:0.927:0.0	.	.	.	.	X	928;928;928;770	.	ENSP00000346479:E928X	E	+	1	0	KANK1	720134	0.838000	0.29461	0.011000	0.14972	0.145000	0.21501	2.520000	0.45554	1.512000	0.48834	0.655000	0.94253	GAA	KANK1	-	NULL	ENSG00000107104		0.522	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0	56	0	G	NM_015158		730134	1			no_errors	ENST00000382297	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.272	T	T	730134	G	T	730134	4	4	78	1	0	0	0	0	0	1	0	0	8003	943	33	3	2792	3	KANK1	9	730134	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		730134	140483297	146	20514											
CNTLN	54875	genome.wustl.edu	37	chr9	17340914	17340914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactacagagcagtaaaagaGcaattaaaacagtgggaaga	21	5	10	5	0	0	3	0	0	0	3	0	4	0	4	0	1	5	3	0	1	8	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:17340914G>T	ENST00000380647.3	+	11	1818	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	CNTLN_ENST00000425824.1_Missense_Mutation_p.E578D|CNTLN_ENST00000262360.5_Missense_Mutation_p.E578D			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	578					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGTAAAAGAGCAATTAAAAC	0.403																																																	0													91	85	87					9																	17340914		1922	4138	6060	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1734G>T	9.37:g.17340914G>T	ENSP00000370021:p.Glu578Asp		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.E578D	ENST00000380647.3	37	c.1734	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	16.69	3.194144	0.58017	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.15487	2.42;2.42;2.42	5.4	4.5	0.54988	.	.	.	.	.	T	0.19967	0.0480	M	0.67953	2.075	0.38711	D	0.953227	P;P;P	0.45715	0.865;0.756;0.756	B;B;B	0.43478	0.421;0.28;0.28	T	0.10086	-1.0645	9	0.17832	T	0.49	.	10.1153	0.42587	0.1532:0.0:0.8468:0.0	.	578;578;578	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	D	578	ENSP00000370021:E578D;ENSP00000392798:E578D;ENSP00000262360:E578D	ENSP00000262360:E578D	E	+	3	2	CNTLN	17330914	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.229000	0.42990	1.265000	0.44215	0.591000	0.81541	GAG	CNTLN	-	NULL	ENSG00000044459		0.403	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0	73	0	G	NM_017738		17340914	1			no_errors	ENST00000380647	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	17340914	G	T	17340914	3	4	78	1	0	0	0	0	1	0	0	0	3646	962	34	3	1806	3	CNTLN	9	17340914	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	16610780	17340914	123872517	147	20515											
TEK	7010	genome.wustl.edu	37	chr9	27185608	27185608	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggatggtggaaaagccCttcaacatttctgttaaagg	11	11	12	7	0	2	0	1	0	1	0	2	2	2	2	1	4	2	2	1	4	5	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:27185608C>T	ENST00000380036.4	+	9	1750	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	TEK_ENST00000406359.4_Silent_p.P393P|TEK_ENST00000519097.1_Silent_p.P289P	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	436	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TGGAAAAGCCCTTCAACATTT	0.443																																																	0													96	94	95					9																	27185608		2203	4300	6503	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1308C>T	9.37:g.27185608C>T			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P436	ENST00000380036.4	37	c.1308	CCDS6519.1	9																																																																																			TEK	-	pfscan_Ig-like_dom	ENSG00000120156		0.443	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0	108	0	C			27185608	1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	silent	8.00	68	6	SNP	0.995	T	T	27185608	C	T	27185608	2	4	78	1	0	0	0	0	0	0	0	1	15798	668	24	3		3	TEK	9	27185608	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	9844694	27185608	114027823	148	20516											
AGTPBP1	23287	genome.wustl.edu	37	chr9	88247681	88247681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatattctgggacagacttCgtatttttcacaatctcaat	12	15	6	8	1	3	1	2	0	2	1	5	3	3	2	0	1	0	1	0	1	5	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:88247681C>T	ENST00000357081.3	-	14	2055	c.1911G>A	c.(1909-1911)acG>acA	p.T637T	AGTPBP1_ENST00000376109.3_Silent_p.T649T|AGTPBP1_ENST00000432218.1_Silent_p.T475T|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.T597T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	637					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GGACAGACTTCGTATTTTTCA	0.423																																																	0													114	105	108					9																	88247681		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1911G>A	9.37:g.88247681C>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T649	ENST00000357081.3	37	c.1947		9																																																																																			AGTPBP1	-	NULL	ENSG00000135049		0.423	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	-	0	96	0	C	NM_015239		88247681	-1	tier1	-	no_errors	ENST00000376109	ensembl	human	known	74_37	silent	37.50	40	24	SNP	0.040	T	T	88247681	C	T	88247681	2	4	78	1	0	0	0	0	0	0	0	1	400	871	31	1		1	AGTPBP1	9	88247681	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	61062073	88247681	52965750	149	20517											
OMD	4958	genome.wustl.edu	37	chr9	95179781	95179781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgataagtttcatattgGcaatgtactttgactccaaa	13	14	6	8	0	1	2	1	2	0	0	2	2	2	2	1	1	1	3	1	1	5	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:95179781G>A	ENST00000375550.4	-	2	335	c.60C>T	c.(58-60)tgC>tgT	p.C20C	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	20					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TTTCATATTGGCAATGTACTT	0.343			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	0													66	60	62					9																	95179781		2203	4300	6503	SO:0001819	synonymous_variant	0			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	8134	protein-coding gene	gene with protein product	"osteoadherin proteoglycan"						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.60C>T	9.37:g.95179781G>A			Q5TBF4	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.C20	ENST00000375550.4	37	c.60	CCDS6696.1	9																																																																																			OMD	-	NULL	ENSG00000127083		0.343	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMD	HGNC	protein_coding	OTTHUMT00000053090.1	-	0	50	0	G	NM_005014		95179781	-1	tier1	-	no_errors	ENST00000375550	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	A	A	95179781	G	A	95179781	2	1	78	1	0	0	0	0	0	0	0	1	10904	1195	42	3		3	OMD	9	95179781	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	6932100	95179781	46033650	150	20518											
PHF2	5253	genome.wustl.edu	37	chr9	96439033	96439033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaccccggcctccaccaGcacggccagcagccaggcct	8	2	9	22	2	0	0	0	0	0	0	1	0	1	0	9	3	3	2	9	3	0	0	rs10992857		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:96439033G>C	ENST00000359246.4	+	21	3357	c.2990G>C	c.(2989-2991)aGc>aCc	p.S997T	PHF2_ENST00000375376.4_Missense_Mutation_p.S228T	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	997	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		gcctccaccagcacggccagc	0.706																																																	0													55	46	49					9																	96439033		2112	4142	6254	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.2990G>C	9.37:g.96439033G>C	ENSP00000352185:p.Ser997Thr		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S997T	ENST00000359246.4	37	c.2990	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370053	0.24771	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.59772	0.24;0.24	4.46	3.55	0.40652	.	0.564507	0.20259	N	0.095916	T	0.32346	0.0826	N	0.14661	0.345	0.27151	N	0.961405	B	0.29037	0.231	B	0.21917	0.037	T	0.06716	-1.0811	10	0.24483	T	0.36	-10.9782	5.9056	0.18998	0.1875:0.0:0.8125:0.0	rs10992857	997	O75151	PHF2_HUMAN	T	997;228	ENSP00000352185:S997T;ENSP00000364525:S228T	ENSP00000352185:S997T	S	+	2	0	PHF2	95478854	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.004000	0.40854	2.414000	0.81942	0.650000	0.86243	AGC	PHF2	-	NULL	ENSG00000197724		0.706	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0	38	0	G	NM_005392		96439033	1	tier1	rs10992857	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	9.33	67	7	SNP	1.000	C	C	96439033	G	C	96439033	3	2	78	1	0	0	0	0	1	0	0	0	11869	971	34	5	3072	5	PHF2	9	96439033	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1259252	96439033	44774398	151	20519											
CYLC2	1539	genome.wustl.edu	37	chr9	105765462	105765462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcatggaatcagcaacacTttgccctgttatttcccaaa	13	12	5	11	0	2	0	2	0	0	0	3	1	3	1	2	1	3	2	2	1	5	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:105765462T>C	ENST00000374798.3	+	3	167	c.97T>C	c.(97-99)Ttt>Ctt	p.F33L	CYLC2_ENST00000487798.1_Missense_Mutation_p.F33L	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	33	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TCAGCAACACTTTGCCCTGTT	0.388																																																	0													125	115	118					9																	105765462		2203	4300	6503	SO:0001583	missense	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.97T>C	9.37:g.105765462T>C	ENSP00000420256:p.Phe33Leu		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.F33L	ENST00000374798.3	37	c.97	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399498	0.83120	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.37915	1.17;1.17	4.81	4.81	0.61882	.	0.000000	0.46145	D	0.000315	T	0.52741	0.1753	L	0.58969	1.84	0.33251	D	0.558554	D	0.76494	0.999	D	0.71184	0.972	T	0.65994	-0.6033	10	0.66056	D	0.02	-16.2257	10.9303	0.47213	0.0:0.0:0.0:1.0	.	33	Q14093	CYLC2_HUMAN	L	33	ENSP00000420256:F33L;ENSP00000417674:F33L	ENSP00000420256:F33L	F	+	1	0	CYLC2	104805283	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.303000	0.51858	2.155000	0.67459	0.477000	0.44152	TTT	CYLC2	-	NULL	ENSG00000155833		0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3	-	0	112	0	T	NM_001340		105765462	1	tier1	-	no_errors	ENST00000374798	ensembl	human	known	74_37	missense	15.19	67	12	SNP	1.000	C	C	105765462	T	C	105765462	3	2	78	1	0	0	0	0	1	0	0	0	4151	1609	56	4	107	4	CYLC2	9	105765462	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	9326429	105765462	35447969	152	20520											
DBC1	1620	genome.wustl.edu	37	chr9	122004469	122004469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgaggcgacttttgtcCatatacatggtcaaagcctc	9	12	9	11	2	1	0	1	0	0	0	4	2	2	0	2	2	2	0	2	2	3	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:122004469C>A	ENST00000265922.3	-	4	896	c.435G>T	c.(433-435)atG>atT	p.M145I	BRINP1_ENST00000373964.2_Missense_Mutation_p.M145I	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	145	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GACTTTTGTCCATATACATGG	0.498																																																	0													107	87	94					9																	122004469		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.435G>T	9.37:g.122004469C>A	ENSP00000265922:p.Met145Ile		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.M145I	ENST00000265922.3	37	c.435	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978704	0.74360	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.82255	-1.59;-1.59	5.64	5.64	0.86602	Membrane attack complex component/perforin (MACPF) domain (2);	0.036313	0.85682	D	0.000000	T	0.80037	0.4550	L	0.40543	1.245	0.80722	D	1	B;B	0.15141	0.012;0.008	B;B	0.12156	0.007;0.007	T	0.74250	-0.3726	10	0.62326	D	0.03	-24.8709	20.0666	0.97706	0.0:1.0:0.0:0.0	.	145;145	O60477-2;O60477	.;DBC1_HUMAN	I	145	ENSP00000265922:M145I;ENSP00000363075:M145I	ENSP00000265922:M145I	M	-	3	0	DBC1	121044290	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.826000	0.97356	0.561000	0.74099	ATG	BRINP1	-	pfam_MACPF,smart_MACPF	ENSG00000078725		0.498	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	72	0	C	NM_014618		122004469	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	10.34	78	9	SNP	1.000	A	A	122004469	C	A	122004469	3	1	78	1	0	0	0	0	1	0	0	0	4256	594	21	3	1870	3	DBC1	9	122004469	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	16239007	122004469	19208962	153	20521											
SARDH	1757	genome.wustl.edu	37	chr9	136536779	136536779	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggaatgtgcagctccCagcccagctcccccacaaag	9	7	8	17	0	0	0	0	0	0	0	2	1	2	1	5	1	4	3	5	1	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:136536779C>T	ENST00000371872.4	-	18	2461	c.2204G>A	c.(2203-2205)tGg>tAg	p.W735*	SARDH_ENST00000371868.1_Nonsense_Mutation_p.W163*|SARDH_ENST00000439388.1_Nonsense_Mutation_p.W735*|SARDH_ENST00000422262.2_Nonsense_Mutation_p.W567*	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	735					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GTGCAGCTCCCAGCCCAGCTC	0.642																																																	0													51	36	41					9																	136536779		2196	4291	6487	SO:0001587	stop_gained	0				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.2204G>A	9.37:g.136536779C>T	ENSP00000360938:p.Trp735*		B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Nonsense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.W735*	ENST00000371872.4	37	c.2204	CCDS6978.1	9	.	.	.	.	.	.	.	.	.	.	C	41	8.835345	0.98972	.	.	ENSG00000123453	ENST00000371872;ENST00000371868;ENST00000439388;ENST00000422262	.	.	.	4.97	4.97	0.65823	.	0.059774	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4789	18.2398	0.89963	0.0:1.0:0.0:0.0	.	.	.	.	X	735;163;735;567	.	ENSP00000360934:W163X	W	-	2	0	SARDH	135526600	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.559000	0.67326	2.299000	0.77371	0.655000	0.94253	TGG	SARDH	-	pfam_GCV_T_N	ENSG00000123453		0.642	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	-	0	46	0	C			136536779	-1	tier1	-	no_errors	ENST00000371872	ensembl	human	known	74_37	nonsense	14.81	46	8	SNP	1.000	T	T	136536779	C	T	136536779	4	4	78	1	0	0	0	0	0	1	0	0	13886	595	21	3	568	3	SARDH	9	136536779	Nonsense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	14532310	136536779	4676652	154	20522											
COL5A1	1289	genome.wustl.edu	37	chr9	137734078	137734078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcccatcgtggacatcAtgttcaatgacttcggtgaa	10	11	11	9	2	2	2	2	2	0	0	4	3	2	3	1	3	1	1	1	3	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:137734078A>G	ENST00000371817.3	+	66	5860	c.5446A>G	c.(5446-5448)Atg>Gtg	p.M1816V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1816	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGTGGACATCATGTTCAATGA	0.577																																																	0													131	124	127					9																	137734078		2203	4300	6503	SO:0001583	missense	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5446A>G	9.37:g.137734078A>G	ENSP00000360882:p.Met1816Val		Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.M1816V	ENST00000371817.3	37	c.5446	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094697	0.36952	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.72505	-0.66	4.72	4.72	0.59763	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	U	0.000000	T	0.65080	0.2657	M	0.65320	2	0.44603	D	0.997579	P	0.35011	0.48	B	0.29353	0.101	T	0.65302	-0.6201	10	0.32370	T	0.25	.	14.1846	0.65598	1.0:0.0:0.0:0.0	.	1816	P20908	CO5A1_HUMAN	V	1816;353	ENSP00000360882:M1816V	ENSP00000347458:M353V	M	+	1	0	COL5A1	136873899	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.853000	0.69496	1.765000	0.52091	0.460000	0.39030	ATG	COL5A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000130635		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	84	0	A	NM_000093		137734078	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	G	G	137734078	A	G	137734078	3	3	78	1	0	0	0	0	1	0	0	0	3703	217	8	4	5708	4	COL5A1	9	137734078	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	1197299	137734078	3479353	155	20523											
LCN15	389812	genome.wustl.edu	37	chr9	139656665	139656665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcagcatgaccatcatGtccttggggagccccagggt	7	8	15	11	0	1	1	1	1	0	0	2	2	2	2	4	5	2	2	4	5	0	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr9:139656665G>T	ENST00000316144.5	-	5	519	c.495C>A	c.(493-495)gaC>gaA	p.D165E	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	165					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TGACCATCATGTCCTTGGGGA	0.657																																																	0													19	20	20					9																	139656665		2190	4294	6484	SO:0001583	missense	0				CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"Lipocalins"	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.495C>A	9.37:g.139656665G>T	ENSP00000313833:p.Asp165Glu			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.D165E	ENST00000316144.5	37	c.495	CCDS7006.1	9	.	.	.	.	.	.	.	.	.	.	G	2.220	-0.378594	0.05000	.	.	ENSG00000177984	ENST00000316144	T	0.06768	3.26	4.0	1.05	0.20165	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.320347	0.21806	N	0.068841	T	0.05868	0.0153	L	0.56769	1.78	0.19945	N	0.999945	B	0.29571	0.249	B	0.25405	0.06	T	0.41822	-0.9487	10	0.06365	T	0.9	.	3.4339	0.07438	0.226:0.0:0.5738:0.2001	.	165	Q6UWW0	LCN15_HUMAN	E	165	ENSP00000313833:D165E	ENSP00000313833:D165E	D	-	3	2	LCN15	138776486	0.009000	0.17119	0.004000	0.12327	0.010000	0.07245	0.511000	0.22739	-0.086000	0.12550	-0.140000	0.14226	GAC	LCN15	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_A1-microglobln	ENSG00000177984		0.657	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	HGNC	protein_coding	OTTHUMT00000055114.2	-	0	95	0	G	NM_203347		139656665	-1	tier1	-	no_errors	ENST00000316144	ensembl	human	known	74_37	missense	6.67	70	5	SNP	0.493	T	T	139656665	G	T	139656665	3	4	78	1	0	0	0	0	1	0	0	0	8711	1368	48	3	67	3	LCN15	9	139656665	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1922587	139656665	1556766	156	20524											
C10orf113	387638	genome.wustl.edu	37	chr10	21435419	21435419	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttccatagagtagattcTtctttcacttttagccatcc	8	17	5	11	0	3	2	1	0	2	2	5	2	5	2	3	0	1	2	3	0	3	8			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:21435419T>G	ENST00000534331.1	-	1	69	c.19A>C	c.(19-21)Aga>Cga	p.R7R	NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_5'UTR|C10orf113_ENST00000529198.1_Silent_p.R7R	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	7										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						GAGTAGATTCTTCTTTCACTT	0.383																																																	0													120	114	116					10																	21435419		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.19A>C	10.37:g.21435419T>G			B9EIM9|E9PRX7	Silent	SNP	NULL	p.R7	ENST00000534331.1	37	c.19	CCDS31162.2	10																																																																																			C10orf113	-	NULL	ENSG00000204683		0.383	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf113	HGNC	protein_coding	OTTHUMT00000047108.3	-	0	64	0	T	NM_001010896		21435419	-1	tier1	-	no_errors	ENST00000534331	ensembl	human	known	74_37	silent	10.00	63	7	SNP	0.000	G	G	21435419	T	G	21435419	2	3	78	1	0	0	0	0	0	0	0	1	1589	1617	56	4		4	C10orf113	10	21435419	Silent	SNP	T	TCGA-L5-A893-01A-11D-A36J-09		21435419	114099328	157	20525											
KIAA1462	57608	genome.wustl.edu	37	chr10	30336523	30336523	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcctctcggtgtgctGcggcggctttcggagtcact	2	11	15	13	5	2	0	1	0	1	0	4	1	2	1	2	5	2	2	2	5	0	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:30336523G>T	ENST00000375377.1	-	2	320	c.219C>A	c.(217-219)cgC>cgA	p.R73R		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	73					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCGGTGTGCTGCGGCGGCTTT	0.622																																																	0													36	41	39					10																	30336523		1976	4145	6121	SO:0001819	synonymous_variant	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"junctional protein associated with coronary artery disease"	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.219C>A	10.37:g.30336523G>T			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.R73	ENST00000375377.1	37	c.219	CCDS41500.1	10																																																																																			KIAA1462	-	NULL	ENSG00000165757		0.622	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1		0	65	0	G	NM_020848		30336523	-1			no_errors	ENST00000375377	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	T	T	30336523	G	T	30336523	2	4	78	1	0	0	0	0	0	0	0	1	8261	1306	46	3		3	KIAA1462	10	30336523	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	8901104	30336523	105198224	158	20526											
BMS1	9790	genome.wustl.edu	37	chr10	43292443	43292443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgattctgggcattgcacagCtgaagaggtgtttgcatctg	8	12	13	8	1	2	2	0	1	2	1	2	3	2	2	0	2	3	5	0	2	1	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:43292443C>A	ENST00000374518.5	+	10	1814	c.1751C>A	c.(1750-1752)gCt>gAt	p.A584D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	584					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGCACAGCTGAAGAGGTG	0.453																																																	0													81	79	79					10																	43292443		2203	4300	6503	SO:0001583	missense	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1751C>A	10.37:g.43292443C>A	ENSP00000363642:p.Ala584Asp		Q5QPT5|Q86XJ9	Missense_Mutation	SNP	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.A584D	ENST00000374518.5	37	c.1751	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	c	8.937	0.964897	0.18583	.	.	ENSG00000165733	ENST00000374518	T	0.25250	1.81	4.79	4.79	0.61399	.	0.331476	0.32401	N	0.006157	T	0.17789	0.0427	L	0.36672	1.1	0.33317	D	0.566876	P	0.43477	0.808	B	0.37267	0.245	T	0.14504	-1.0470	10	0.13108	T	0.6	.	13.2551	0.60074	0.1588:0.8412:0.0:0.0	.	584	Q14692	BMS1_HUMAN	D	584	ENSP00000363642:A584D	ENSP00000363642:A584D	A	+	2	0	BMS1	42612449	1.000000	0.71417	0.999000	0.59377	0.412000	0.31113	2.643000	0.46604	2.381000	0.81170	0.549000	0.68633	GCT	BMS1	-	superfamily_P-loop_NTPase	ENSG00000165733		0.453	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	HGNC	protein_coding	OTTHUMT00000047690.2	-	0	56	0	C	NM_014753		43292443	1	tier1	-	no_errors	ENST00000374518	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.984	A	A	43292443	C	A	43292443	3	1	78	1	0	0	0	0	1	0	0	0	1474	797	28	3	1785	3	BMS1	10	43292443	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	12955920	43292443	92242304	159	20527											
CHST3	9469	genome.wustl.edu	37	chr10	73767882	73767882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgcctggctgcggggcCgctacatgctggtgcgctac	4	7	15	15	4	0	0	0	0	0	0	0	0	0	0	3	4	6	4	3	4	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:73767882C>T	ENST00000373115.4	+	3	1530	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	365					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GCTGCGGGGCCGCTACATGCT	0.731																																																	0													5	5	5					10																	73767882		1835	3535	5370	SO:0001583	missense	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1093C>T	10.37:g.73767882C>T	ENSP00000362207:p.Arg365Cys		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.R365C	ENST00000373115.4	37	c.1093	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474621	0.84640	.	.	ENSG00000122863	ENST00000373115	D	0.83755	-1.76	5.55	5.55	0.83447	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.92459	0.7606	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93582	0.6913	10	0.87932	D	0	-27.2391	13.4685	0.61270	0.1563:0.8437:0.0:0.0	.	365	Q7LGC8	CHST3_HUMAN	C	365	ENSP00000362207:R365C	ENSP00000362207:R365C	R	+	1	0	CHST3	73437888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.194000	0.51005	2.630000	0.89119	0.561000	0.74099	CGC	CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.731	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1		0	23	0	C	NM_004273		73767882	1			no_errors	ENST00000373115	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	73767882	C	T	73767882	3	4	78	1	0	0	0	0	1	0	0	0	3412	652	23	1	1099	1	CHST3	10	73767882	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	30475439	73767882	61766865	160	20528											
MYOF	26509	genome.wustl.edu	37	chr10	95191212	95191212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggagatcagcttgtacgGcagggatctgctctggtcac	8	9	14	10	1	4	1	2	0	2	1	4	3	4	2	0	4	3	4	0	4	1	2	rs369425898		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:95191212G>T	ENST00000359263.4	-	4	297	c.298C>A	c.(298-300)Ccg>Acg	p.P100T	MYOF_ENST00000371501.4_Missense_Mutation_p.P100T|MYOF_ENST00000371489.1_Missense_Mutation_p.P100T|MYOF_ENST00000371488.3_Missense_Mutation_p.P100T|MYOF_ENST00000371502.4_Missense_Mutation_p.P100T|MYOF_ENST00000358334.5_Missense_Mutation_p.P100T	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	100					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.P100S(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCTTGTACGGCAGGGATCTG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											92	88	90					10																	95191212		1953	4164	6117	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.298C>A	10.37:g.95191212G>T	ENSP00000352208:p.Pro100Thr		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.P100T	ENST00000359263.4	37	c.298	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432022	0.43122	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	D;D;D;D;T;T	0.82167	-1.58;-1.58;-1.58;-1.58;-1.32;0.26	5.73	5.73	0.89815	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.108688	0.64402	D	0.000004	D	0.86698	0.5995	L	0.58669	1.825	0.58432	D	0.99999	D;B;D	0.59357	0.985;0.23;0.959	D;B;P	0.64144	0.922;0.403;0.682	T	0.81072	-0.1098	10	0.02654	T	1	-12.7285	17.1927	0.86885	0.0:0.0:1.0:0.0	.	82;100;100	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	T	100	ENSP00000351094:P100T;ENSP00000352208:P100T;ENSP00000360556:P100T;ENSP00000360557:P100T;ENSP00000360544:P100T;ENSP00000360543:P100T	ENSP00000351094:P100T	P	-	1	0	MYOF	95181202	1.000000	0.71417	0.996000	0.52242	0.313000	0.28021	5.541000	0.67212	2.868000	0.98415	0.557000	0.71058	CCG	MYOF	-	superfamily_C2_dom,smart_C2_dom	ENSG00000138119		0.473	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2		0	55	0	G	NM_013451		95191212	-1			no_errors	ENST00000359263	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	T	T	95191212	G	T	95191212	3	4	78	1	0	0	0	0	1	0	0	0	10127	1203	42	3	6091	3	MYOF	10	95191212	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	21423330	95191212	40343535	161	20529											
ABCC2	1244	genome.wustl.edu	37	chr10	101591778	101591778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagtgcctttggtttcGtccatgcatcaaatatcttg	7	16	9	9	1	3	0	1	0	2	0	5	1	4	1	2	2	2	2	2	2	2	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:101591778G>T	ENST00000370449.4	+	23	3261	c.3148G>T	c.(3148-3150)Gtc>Ttc	p.V1050F		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1050	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTTTGGTTTCGTCCATGCATC	0.443																																																	0													205	171	182					10																	101591778		2203	4300	6503	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3148G>T	10.37:g.101591778G>T	ENSP00000359478:p.Val1050Phe		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.V1050F	ENST00000370449.4	37	c.3148	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652594	0.29336	.	.	ENSG00000023839	ENST00000370449	D	0.89617	-2.54	5.64	-1.43	0.08884	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.957126	0.08824	N	0.888289	D	0.83959	0.5367	L	0.46614	1.455	0.09310	N	1	B	0.15719	0.014	B	0.20577	0.03	T	0.72469	-0.4284	10	0.59425	D	0.04	-2.6294	8.5729	0.33581	0.4572:0.1115:0.4313:0.0	.	1050	Q92887	MRP2_HUMAN	F	1050	ENSP00000359478:V1050F	ENSP00000359478:V1050F	V	+	1	0	ABCC2	101581768	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.411000	0.07142	-0.140000	0.11394	-0.423000	0.05987	GTC	ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.443	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0	67	0	G	NM_000392		101591778	1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	6.25	75	5	SNP	0.000	T	T	101591778	G	T	101591778	3	4	78	1	0	0	0	0	1	0	0	0	53	1145	40	2	3238	2	ABCC2	10	101591778	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	6400566	101591778	33942969	162	20530											
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118354277	118354277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggtgaactgcatctgCgtggactggaagaagggctc	10	7	17	7	1	1	2	0	1	1	1	2	6	1	5	0	5	3	2	0	5	3	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:118354277C>T	ENST00000528052.1	+	5	437	c.366C>T	c.(364-366)tgC>tgT	p.C122C	PNLIPRP1_ENST00000534537.1_Silent_p.C122C|PNLIPRP1_ENST00000358834.4_Silent_p.C122C			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	122					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ACTGCATCTGCGTGGACTGGA	0.592																																																	0													120	102	108					10																	118354277		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.366C>T	10.37:g.118354277C>T			Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.C122	ENST00000528052.1	37	c.366	CCDS7595.1	10																																																																																			PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase	ENSG00000187021		0.592	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	-	0	76	0	C	NM_006229		118354277	1	tier1	-	no_errors	ENST00000358834	ensembl	human	known	74_37	silent	8.24	77	7	SNP	0.401	T	T	118354277	C	T	118354277	2	4	78	1	0	0	0	0	0	0	0	1	12189	776	27	1		1	PNLIPRP1	10	118354277	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	16762499	118354277	17180470	163	20531											
CTBP2	1488	genome.wustl.edu	37	chr10	126678147	126678147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctggttgggagagggCgcttgggaaggatgtgccac	6	8	21	6	1	0	1	0	0	0	1	0	4	0	3	1	6	1	3	1	6	1	2	rs76963654		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:126678147C>T	ENST00000337195.5	-	11	1677	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	CTBP2_ENST00000334808.6_Silent_p.A494A|CTBP2_ENST00000411419.2_Silent_p.A426A|CTBP2_ENST00000309035.6_Silent_p.A966A|CTBP2_ENST00000531469.1_Silent_p.A426A|CTBP2_ENST00000494626.2_Silent_p.A426A	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	426					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGGGAGAGGGCGCTTGGGAAG	0.567													C|||	1	0.000199681	0	0	5008	,	,		18594	0.001		0	False		,,,				2504	0																0													73	74	74					10																	126678147		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.1278G>A	10.37:g.126678147C>T			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.A966	ENST00000337195.5	37	c.2898	CCDS7643.1	10																																																																																			CTBP2	-	NULL	ENSG00000175029		0.567	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0	41	0	C	NM_001083914		126678147	-1	tier1	rs76963654	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	6.49	72	5	SNP	0.989	T	T	126678147	C	T	126678147	2	4	78	1	0	0	0	0	0	0	0	1	4007	755	27	1		1	CTBP2	10	126678147	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	8323870	126678147	8856600	164	20532											
LRRC27	80313	genome.wustl.edu	37	chr10	134165145	134165145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccaggagcatcttacccGacctcttgtcaccgtaccaa	9	9	6	17	2	3	0	1	0	2	0	4	2	4	1	6	1	3	2	6	1	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr10:134165145G>A	ENST00000368614.3	+	7	1066	c.961G>A	c.(961-963)Gac>Aac	p.D321N	LRRC27_ENST00000432555.2_Missense_Mutation_p.D194N|LRRC27_ENST00000368615.3_Missense_Mutation_p.D321N|LRRC27_ENST00000392638.2_Silent_p.P352P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Silent_p.P352P|LRRC27_ENST00000368612.1_Missense_Mutation_p.D259N|LRRC27_ENST00000368610.3_Missense_Mutation_p.D259N|LRRC27_ENST00000368613.4_Missense_Mutation_p.D321N	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	321										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CATCTTACCCGACCTCTTGTC	0.498																																																	0													151	166	161					10																	134165145		2203	4300	6503	SO:0001583	missense	0			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.961G>A	10.37:g.134165145G>A	ENSP00000357603:p.Asp321Asn		A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D321N	ENST00000368614.3	37	c.961	CCDS31316.1	10	.	.	.	.	.	.	.	.	.	.	G	7.400	0.632538	0.14322	.	.	ENSG00000148814	ENST00000368615;ENST00000368614;ENST00000368613;ENST00000368612;ENST00000368610;ENST00000432555	T;T;T;T;T;T	0.43688	2.64;2.56;2.56;4.34;4.34;0.94	4.41	0.208	0.15221	.	1.617980	0.03547	N	0.224795	T	0.21761	0.0524	.	.	.	0.09310	N	1	B;B;B;B	0.24963	0.115;0.002;0.002;0.005	B;B;B;B	0.15484	0.013;0.002;0.002;0.002	T	0.10382	-1.0632	9	0.12766	T	0.61	-1.7493	4.5322	0.12011	0.3003:0.1632:0.5365:0.0	.	321;194;259;321	Q9C0I9-4;B4DW88;Q9C0I9-2;Q9C0I9	.;.;.;LRC27_HUMAN	N	321;321;321;259;259;194	ENSP00000357604:D321N;ENSP00000357603:D321N;ENSP00000357602:D321N;ENSP00000357601:D259N;ENSP00000357599:D259N;ENSP00000407949:D194N	ENSP00000357599:D259N	D	+	1	0	LRRC27	134015135	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.130000	0.15850	-0.058000	0.13177	-1.134000	0.01955	GAC	LRRC27	-	NULL	ENSG00000148814		0.498	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC27	HGNC	protein_coding	OTTHUMT00000051058.2	-	0	60	0	G	XM_290462		134165145	1	tier1	-	no_errors	ENST00000368613	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.000	A	A	134165145	G	A	134165145	3	1	78	1	0	0	0	0	1	0	0	0	9016	1058	37	1	1082	1	LRRC27	10	134165145	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	7486998	134165145	1369602	165	20533											
OR51E1	143503	genome.wustl.edu	37	chr11	4674369	4674369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtctatggccttatcGtcatcatctccgccattggc	6	14	8	13	3	4	0	2	0	2	0	7	0	4	0	3	2	0	0	3	2	2	3	rs185465942	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:4674369G>T	ENST00000396952.5	+	2	1263	c.613G>T	c.(613-615)Gtc>Ttc	p.V205F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCCTTATCGTCATCATCTC	0.498																																																	0													237	209	218					11																	4674369		2201	4298	6499	SO:0001583	missense	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.613G>T	11.37:g.4674369G>T	ENSP00000380155:p.Val205Phe		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V205F	ENST00000396952.5	37	c.613	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876160	0.51801	.	.	ENSG00000180785	ENST00000396952	T	0.72051	-0.62	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	0.126830	0.35495	N	0.003178	T	0.77205	0.4096	L	0.48218	1.51	0.80722	D	1	D	0.69078	0.997	D	0.72338	0.977	T	0.78293	-0.2260	10	0.87932	D	0	.	10.3178	0.43747	0.0912:0.0:0.9088:0.0	.	204	Q8TCB6	O51E1_HUMAN	F	205	ENSP00000380155:V205F	ENSP00000380155:V205F	V	+	1	0	OR51E1	4630945	0.223000	0.23663	1.000000	0.80357	0.972000	0.66771	1.957000	0.40392	2.605000	0.88082	0.655000	0.94253	GTC	OR51E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180785		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	-	0	61	0	G	NM_152430		4674369	1	tier1	-	no_errors	ENST00000396952	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.840	T	T	4674369	G	T	4674369	3	4	78	1	0	0	0	0	1	0	0	0	11133	1145	40	2	615	2	OR51E1	11	4674369	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		4674369	130332147	166	20534											
OR51G1	79324	genome.wustl.edu	37	chr11	4944691	4944691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttggtcttgatgctgtaGatgatggggttcataagggg	7	14	16	4	0	2	3	1	2	1	1	2	3	2	3	0	5	2	4	0	5	2	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:4944691G>C	ENST00000321961.2	-	1	946	c.879C>G	c.(877-879)atC>atG	p.I293M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTGTAGATGATGGGGT	0.433																																																	0													169	155	160					11																	4944691		2201	4298	6499	SO:0001583	missense	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.879C>G	11.37:g.4944691G>C	ENSP00000322546:p.Ile293Met		B9EGW8|Q6IFH6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I293M	ENST00000321961.2	37	c.879	CCDS31366.1	11	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479863	0.26511	.	.	ENSG00000176879	ENST00000321961	T	0.57273	0.41	4.53	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.231198	0.21746	U	0.069743	T	0.45577	0.1349	M	0.74467	2.265	0.24784	N	0.992796	B	0.10296	0.003	B	0.12156	0.007	T	0.49303	-0.8954	10	0.87932	D	0	.	2.4581	0.04534	0.3476:0.0:0.4355:0.2169	.	293	Q8NGK1	O51G1_HUMAN	M	293	ENSP00000322546:I293M	ENSP00000322546:I293M	I	-	3	3	OR51G1	4901267	0.015000	0.18098	1.000000	0.80357	0.984000	0.73092	-1.265000	0.02844	1.123000	0.41961	0.557000	0.71058	ATC	OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000176879		0.433	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0	73	0	G	NM_001005237		4944691	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.994	C	C	4944691	G	C	4944691	3	2	78	1	0	0	0	0	1	0	0	0	11137	932	33	5	88	5	OR51G1	11	4944691	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	270322	4944691	130061825	167	20535											
DNHD1	144132	genome.wustl.edu	37	chr11	6519744	6519744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatcgtgagttgctagttgGccaccttgatttgctgccct	6	15	10	10	1	0	2	0	2	0	0	1	2	0	2	3	1	3	4	3	1	2	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:6519744G>T	ENST00000527990.2	+	1	299	c.299G>T	c.(298-300)gGc>gTc	p.G100V	DNHD1_ENST00000354685.3_Missense_Mutation_p.G100V|DNHD1_ENST00000254579.6_Missense_Mutation_p.G100V|DNHD1_ENST00000477562.1_3'UTR			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	100					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTAGTTGGCCACCTTGAT	0.567																																																	0													142	120	128					11																	6519744		2201	4296	6497	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.299G>T	11.37:g.6519744G>T	ENSP00000436180:p.Gly100Val		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.G100V	ENST00000527990.2	37	c.299	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035046	0.54896	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.34472	1.36;2.26;1.36	5.33	1.34	0.21922	.	0.519424	0.18996	N	0.125491	T	0.43700	0.1259	L	0.32530	0.975	0.23645	N	0.99722	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.19679	-1.0298	10	0.66056	D	0.02	.	8.3536	0.32316	0.3223:0.0:0.6777:0.0	.	100;100	Q96M86;Q96M86-4	DNHD1_HUMAN;.	V	100	ENSP00000254579:G100V;ENSP00000346716:G100V;ENSP00000436180:G100V	ENSP00000254579:G100V	G	+	2	0	DNHD1	6476320	0.005000	0.15991	0.039000	0.18376	0.964000	0.63967	1.323000	0.33701	0.246000	0.21394	0.563000	0.77884	GGC	DNHD1	-	NULL	ENSG00000179532		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	31	0	G	NM_144666		6519744	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	12.12	28	4	SNP	0.147	T	T	6519744	G	T	6519744	3	4	78	1	0	0	0	0	1	0	0	0	4682	1203	42	3	301	3	DNHD1	11	6519744	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1575053	6519744	128486772	168	20536											
TPP1	8642	genome.wustl.edu	37	chr11	6640089	6640089	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtctcagggcaaaggtGagactcagctcttcctcagg	8	10	12	11	0	4	1	3	1	2	1	6	2	5	1	1	3	2	3	1	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:6640089G>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000533371.1_5'UTR|TPP1_ENST00000299427.6_Silent_p.L49L|TPP1_ENST00000534644.1_Intron|RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000528657.1_3'UTR	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L49L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCAAAGGTGAGACTCAGCT	0.607																																																	1	Substitution - coding silent(1)	breast(1)											79	72	74					11																	6640089		2201	4296	6497	SO:0001628	intergenic_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640089G>T			O15098	Silent	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.L49	ENST00000299441.3	37	c.147	CCDS7771.1	11																																																																																			TPP1	-	pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	ENSG00000166340		0.607	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257258.1		0	40	0	G	NM_003737		6640089	-1			no_errors	ENST00000299427	ensembl	human	known	74_37	silent	6.52	43	3	SNP	1.000	T	T	6640089	G	T	6640089	1	4	78	0	1	0	0	0	0	0	0	0	16459	1277	45	3		3	TPP1	11	6640089	IGR	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	120345	6640089	128366427	169	20537											
GALNTL4	374378	genome.wustl.edu	37	chr11	11470387	11470387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgcttcagggccacgCgccggccttcggggctgagc	5	7	16	13	4	1	1	1	1	0	0	2	2	1	2	3	5	2	2	3	5	1	3	rs369370082		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:11470387C>T	ENST00000227756.4	-	2	743	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	111					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CAGGGCCACGCGCCGGCCTTC	0.662																																																	0													28	27	28					11																	11470387		2201	4294	6495	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.332G>A	11.37:g.11470387C>T	ENSP00000227756:p.Arg111His		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R111H	ENST00000227756.4	37	c.332	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418901	0.83559	.	.	ENSG00000110328	ENST00000227756	T	0.56941	0.43	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45836	0.1362	L	0.39147	1.195	0.46609	D	0.999122	P	0.50943	0.94	B	0.39258	0.295	T	0.53358	-0.8450	10	0.62326	D	0.03	.	17.6521	0.88167	0.0:1.0:0.0:0.0	.	111	Q6P9A2	GLTL4_HUMAN	H	111	ENSP00000227756:R111H	ENSP00000227756:R111H	R	-	2	0	GALNTL4	11426963	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.354000	0.66040	2.500000	0.84329	0.561000	0.74099	CGC	GALNT18	-	NULL	ENSG00000110328		0.662	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1	-	0	137	0	C	NM_198516		11470387	-1	tier1	-	no_errors	ENST00000227756	ensembl	human	known	74_37	missense	5.26	108	6	SNP	1.000	T	T	11470387	C	T	11470387	3	4	78	1	0	0	0	0	1	0	0	0	6248	768	27	1	1531	1	GALNTL4	11	11470387	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	4830298	11470387	123536129	170	20538											
ARNTL	406	genome.wustl.edu	37	chr11	13378285	13378285	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctcttttgttttttcaGagaaagcatggacacagaca	12	14	7	8	0	2	2	1	0	1	2	3	4	2	3	0	1	1	2	0	1	1	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:13378285G>T	ENST00000403290.1	+	6	495		c.e6-1		ARNTL_ENST00000403482.3_5'Flank|ARNTL_ENST00000396441.3_Splice_Site|ARNTL_ENST00000401424.1_Splice_Site|ARNTL_ENST00000403510.3_Splice_Site|ARNTL_ENST00000389708.3_Splice_Site|ARNTL_ENST00000361003.4_Splice_Site|ARNTL_ENST00000389707.4_Splice_Site			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like						circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGTTTTTTCAGAGAAAGCATG	0.368																																																	0													114	102	106					11																	13378285		2200	4294	6494	SO:0001630	splice_region_variant	0			D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"Basic helix-loop-helix proteins"	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.141-1G>T	11.37:g.13378285G>T			A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Splice_Site	SNP	-	e2-1	ENST00000403290.1	37	c.141-1		11	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810918	0.70797	.	.	ENSG00000133794	ENST00000534544;ENST00000527998;ENST00000396441;ENST00000533520;ENST00000529825;ENST00000389707;ENST00000401424;ENST00000529388;ENST00000530357;ENST00000403290;ENST00000361003;ENST00000389708;ENST00000403510;ENST00000482049;ENST00000339640	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARNTL	13334861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.517000	0.81783	2.679000	0.91253	0.655000	0.94253	.	ARNTL	-	-	ENSG00000133794		0.368	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	ARNTL	HGNC	protein_coding	OTTHUMT00000319173.1	-	0	52	0	G	NM_001178	Intron	13378285	1	tier1	-	no_errors	ENST00000403290	ensembl	human	known	74_37	splice_site	6.45	58	4	SNP	1.000	T	T	13378285	G	T	13378285	5	4	78	1	0	0	0	0	0	0	1	0	968	956	33	3	161	3	ARNTL	11	13378285	Splice_Site	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	1907898	13378285	121628231	171	20539											
LGR4	55366	genome.wustl.edu	37	chr11	27389564	27389564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataatcagagtgggccgaCtgtgtgccacagtcggacca	10	7	13	11	2	1	1	1	0	0	1	2	3	1	2	3	2	1	1	3	2	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:27389564C>A	ENST00000379214.4	-	18	3149	c.2706G>T	c.(2704-2706)caG>caT	p.Q902H	LGR4_ENST00000389858.4_Missense_Mutation_p.Q878H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	902					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGTGGGCCGACTGTGTGCCAC	0.512																																																	0													48	53	51					11																	27389564		2202	4299	6501	SO:0001583	missense	0			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"GPCR / Class A : Orphans"	13299	protein-coding gene	gene with protein product		606666	"G protein-coupled receptor 48", "leucine-rich repeat-containing G protein-coupled receptor 4"	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.2706G>T	11.37:g.27389564C>A	ENSP00000368516:p.Gln902His		A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.Q902H	ENST00000379214.4	37	c.2706	CCDS31449.1	11	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027231	0.54683	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.59083	0.29;0.4	5.67	3.55	0.40652	.	0.314136	0.36591	N	0.002504	T	0.56307	0.1976	N	0.24115	0.695	0.80722	D	1	D;D	0.65815	0.995;0.991	P;P	0.58172	0.834;0.687	T	0.56757	-0.7926	10	0.56958	D	0.05	.	11.336	0.49505	0.0:0.8522:0.0:0.1478	.	878;902	G5E9B3;Q9BXB1	.;LGR4_HUMAN	H	902;878	ENSP00000368516:Q902H;ENSP00000374508:Q878H	ENSP00000368516:Q902H	Q	-	3	2	LGR4	27346140	1.000000	0.71417	0.915000	0.36163	0.996000	0.88848	0.681000	0.25320	0.532000	0.28657	0.555000	0.69702	CAG	LGR4	-	NULL	ENSG00000205213		0.512	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	-	0	40	0	C	NM_018490		27389564	-1	tier1	-	no_errors	ENST00000379214	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	A	A	27389564	C	A	27389564	3	1	78	1	0	0	0	0	1	0	0	0	8785	564	20	3	153	3	LGR4	11	27389564	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	14011279	27389564	107616952	172	20540											
ABTB2	25841	genome.wustl.edu	37	chr11	34194800	34194800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcggcggtgctctgcGtaggtgatggccacgcgcat	5	8	17	11	5	1	1	0	1	1	0	1	1	1	1	1	5	3	4	1	5	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:34194800G>A	ENST00000435224.2	-	4	1723	c.1299C>T	c.(1297-1299)taC>taT	p.Y433Y	ABTB2_ENST00000298992.2_Silent_p.Y247Y|ABTB2_ENST00000530814.1_5'UTR	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	433					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGTGCTCTGCGTAGGTGATGG	0.687																																																	0													19	20	20					11																	34194800		2199	4295	6494	SO:0001819	synonymous_variant	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.1299C>T	11.37:g.34194800G>A			A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Silent	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.Y433	ENST00000435224.2	37	c.1299	CCDS7890.2	11																																																																																			ABTB2	-	superfamily_Histone-fold	ENSG00000166016		0.687	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	-	0	85	0	G	NM_145804		34194800	-1	tier1	-	no_errors	ENST00000435224	ensembl	human	known	74_37	silent	24.31	109	35	SNP	0.791	A	A	34194800	G	A	34194800	2	1	78	1	0	0	0	0	0	0	0	1	103	1140	40	1		1	ABTB2	11	34194800	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	6805236	34194800	100811716	173	20541											
OR8H2	390151	genome.wustl.edu	37	chr11	55873035	55873035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatttctacgactcaaacGtaattcatcactttttctgt	10	17	4	10	2	5	0	3	0	2	0	5	1	5	0	0	0	3	2	0	0	3	6	rs201218671	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:55873035G>A	ENST00000313503.1	+	1	517	c.517G>A	c.(517-519)Gta>Ata	p.V173I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CGACTCAAACGTAATTCATCA	0.428										HNSCC(53;0.14)			g|||	3	0.000599042	0.0015	0	5008	,	,		21153	0.001		0	False		,,,				2504	0																0													266	241	249					11																	55873035		2201	4296	6497	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.517G>A	11.37:g.55873035G>A	ENSP00000323982:p.Val173Ile		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V173I	ENST00000313503.1	37	c.517	CCDS31518.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	4.760	0.141395	0.09083	.	.	ENSG00000181767	ENST00000313503	T	0.00076	8.76	3.44	0.468	0.16732	GPCR, rhodopsin-like superfamily (1);	0.426339	0.20138	N	0.098447	T	0.00073	0.0002	N	0.11255	0.115	0.09310	N	1	B	0.19706	0.038	B	0.23716	0.048	T	0.02617	-1.1133	10	0.11794	T	0.64	.	8.9407	0.35729	0.3489:0.0:0.6511:0.0	.	173	Q8N162	OR8H2_HUMAN	I	173	ENSP00000323982:V173I	ENSP00000323982:V173I	V	+	1	0	OR8H2	55629611	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.700000	0.05081	0.251000	0.21505	-0.768000	0.03414	GTA	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181767		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1		0	41	0	G	NM_001005200		55873035	1			no_errors	ENST00000313503	ensembl	human	known	74_37	missense	9.84	55	6	SNP	0.000	A	A	55873035	G	A	55873035	3	1	78	1	0	0	0	0	1	0	0	0	11277	1145	40	1	519	1	OR8H2	11	55873035	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	21678235	55873035	79133481	174	20542											
PPP1R14B	26472	genome.wustl.edu	37	chr11	64012401	64012401	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccccccaggaaatctcttaCctctgtgggtttgtaacagt	8	12	9	12	0	2	0	0	0	2	0	3	1	2	1	4	2	2	2	4	2	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:64012401C>G	ENST00000309318.3	-	3	643		c.e3+1		RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|PPP1R14B_ENST00000542235.1_Splice_Site|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000392210.2_Splice_Site	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B						regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						AAATCTCTTACCTCTGTGGGT	0.602																																																	0													25	28	27					11																	64012401		2201	4297	6498	SO:0001630	splice_region_variant	0			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.375+1G>C	11.37:g.64012401C>G			Q504S7|Q7KZD7	Splice_Site	SNP	-	e3+1	ENST00000309318.3	37	c.375+1	CCDS31596.1	11	.	.	.	.	.	.	.	.	.	.	c	10.72	1.429159	0.25726	.	.	ENSG00000173457	ENST00000392210;ENST00000309318;ENST00000542235	.	.	.	3.07	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8177	0.40862	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP1R14B	63768977	1.000000	0.71417	0.688000	0.30117	0.594000	0.36715	2.680000	0.46918	1.736000	0.51660	0.394000	0.25966	.	PPP1R14B	-	-	ENSG00000173457		0.602	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2	-	0	72	0	C	NM_138689	Intron	64012401	-1	tier1	-	no_errors	ENST00000309318	ensembl	human	known	74_37	splice_site	8.70	42	4	SNP	0.946	G	G	64012401	C	G	64012401	5	3	78	1	0	0	0	0	0	0	1	0	12402	521	18	5	75	5	PPP1R14B	11	64012401	Splice_Site	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	8139366	64012401	70994115	175	20543											
PPFIA1	8500	genome.wustl.edu	37	chr11	70208475	70208475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcatgtcggccctgtccGacacagagatccagcgtgag	9	7	11	14	3	1	2	1	1	0	1	4	4	3	2	4	1	1	0	4	1	0	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:70208475G>A	ENST00000253925.7	+	21	2961	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	PPFIA1_ENST00000389547.3_Missense_Mutation_p.D916N|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	916	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGCCCTGTCCGACACAGAGAT	0.617																																																	0													88	80	82					11																	70208475		2200	4294	6494	SO:0001583	missense	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"Sterile alpha motif (SAM) domain containing"	9245	protein-coding gene	gene with protein product	"Liprin-alpha1"	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2746G>A	11.37:g.70208475G>A	ENSP00000253925:p.Asp916Asn		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D916N	ENST00000253925.7	37	c.2746	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.514892	0.96402	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.50001	0.76;0.76	5.32	5.32	0.75619	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.83275	0.996;0.959;0.932	T	0.73020	-0.4114	10	0.87932	D	0	.	18.9937	0.92804	0.0:0.0:1.0:0.0	.	413;916;916	F5H1G2;Q13136;Q13136-2	.;LIPA1_HUMAN;.	N	916;916;413	ENSP00000253925:D916N;ENSP00000374198:D916N	ENSP00000253925:D916N	D	+	1	0	PPFIA1	69886123	1.000000	0.71417	0.946000	0.38457	0.857000	0.48899	9.542000	0.98086	2.488000	0.83962	0.561000	0.74099	GAC	PPFIA1	-	pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000131626		0.617	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1		0	37	0	G	NM_003626		70208475	1			no_errors	ENST00000253925	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	70208475	G	A	70208475	3	1	78	1	0	0	0	0	1	0	0	0	12348	1058	37	1	2824	1	PPFIA1	11	70208475	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	6196074	70208475	64798041	176	20544											
PICALM	8301	genome.wustl.edu	37	chr11	85685805	85685805	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcatgacaggctggctGtatattaaggttggttgcgt	7	14	14	6	1	1	1	1	1	1	0	2	1	1	1	0	5	1	5	0	5	3	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:85685805G>T	ENST00000393346.3	-	19	2038	c.1890C>A	c.(1888-1890)taC>taA	p.Y630*	PICALM_ENST00000528398.1_Nonsense_Mutation_p.Y529*|PICALM_ENST00000526033.1_Nonsense_Mutation_p.Y623*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.Y610*|PICALM_ENST00000532317.1_Nonsense_Mutation_p.Y588*			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	630					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CAGGCTGGCTGTATATTAAGG	0.413			T	"MLLT10, MLL"	"TALL, AML, "																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													245	204	218					11																	85685805		2203	4299	6502	SO:0001587	stop_gained	0			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1890C>A	11.37:g.85685805G>T	ENSP00000377015:p.Tyr630*		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Nonsense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Y630*	ENST00000393346.3	37	c.1890	CCDS8272.1	11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	38|38|38	6.979796|6.979796|6.979796	0.97979|0.97979|0.97979	.|.|.	.|.|.	ENSG00000073921|ENSG00000073921|ENSG00000073921	ENST00000529760;ENST00000532603;ENST00000526961|ENST00000530692|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|.|.	.|.|.	.|.|.	5.87|5.87|5.87	0.935|0.935|0.935	0.19483|0.19483|0.19483	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.51041|0.51041|.	0.1651|0.1651|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.58498|0.58498|.	-0.7626|-0.7626|.	3|3|.	.|.|.	.|.|.	.|.|.	-4.7185|-4.7185|-4.7185	10.4728|10.4728|10.4728	0.44646|0.44646|0.44646	0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0|0.3107:0.0:0.6893:0.0	.|.|.	.|.|.	.|.|.	.|.|.	K|K|X	286;112;242|167|588;623;630;630;529;610	.|.|.	.|.|.	Q|T|Y	-|-|-	1|2|3	0|0|2	PICALM|PICALM|PICALM	85363453|85363453|85363453	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.976000|0.976000|0.976000	0.68499|0.68499|0.68499	1.139000|1.139000|1.139000	0.31504|0.31504|0.31504	-0.004000|-0.004000|-0.004000	0.14419|0.14419|0.14419	-0.126000|-0.126000|-0.126000	0.14955|0.14955|0.14955	CAG|ACA|TAC	PICALM	-	NULL	ENSG00000073921		0.413	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1		0	135	0	G	NM_007166		85685805	-1			no_errors	ENST00000393346	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T	T	85685805	G	T	85685805	4	4	78	1	0	0	0	0	0	1	0	0	11919	1372	48	3	76	3	PICALM	11	85685805	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	15477330	85685805	49320711	177	20545											
GRIA4	2893	genome.wustl.edu	37	chr11	105781206	105781206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttagtcttgattcaagatGtaccaactcttggcaatgac	12	13	8	8	0	3	3	1	2	2	1	3	3	3	3	1	1	2	3	1	1	5	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:105781206G>T	ENST00000530497.1	+	9	1204	c.1204G>T	c.(1204-1206)Gta>Tta	p.V402L	GRIA4_ENST00000525187.1_Missense_Mutation_p.V402L|GRIA4_ENST00000428631.2_Missense_Mutation_p.V402L|GRIA4_ENST00000282499.5_Missense_Mutation_p.V402L|GRIA4_ENST00000393125.2_Missense_Mutation_p.V402L|GRIA4_ENST00000393127.2_Missense_Mutation_p.V402L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	402					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GATTCAAGATGTACCAACTCT	0.373																																																	0													255	203	221					11																	105781206		2202	4299	6501	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4574	protein-coding gene	gene with protein product		138246	"glutamate receptor, ionotrophic, AMPA 4"	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1204G>T	11.37:g.105781206G>T	ENSP00000435775:p.Val402Leu		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V402L	ENST00000530497.1	37	c.1204	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	4.971	0.180425	0.09443	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81;1.81	6.08	3.17	0.36434	.	0.478276	0.19310	N	0.117412	T	0.13030	0.0316	N	0.08118	0	0.20074	N	0.999931	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.22103	-1.0226	10	0.23302	T	0.38	.	12.3255	0.55009	0.1876:0.0:0.8124:0.0	.	402;402;402	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	L	402	ENSP00000376833:V402L;ENSP00000282499:V402L;ENSP00000376835:V402L;ENSP00000415551:V402L;ENSP00000435775:V402L;ENSP00000432180:V402L	ENSP00000282499:V402L	V	+	1	0	GRIA4	105286416	1.000000	0.71417	0.677000	0.29947	0.955000	0.61496	3.620000	0.54203	0.889000	0.36185	0.591000	0.81541	GTA	GRIA4	-	superfamily_Peripla_BP_I	ENSG00000152578		0.373	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1		0	105	0	G			105781206	1			no_errors	ENST00000282499	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.571	T	T	105781206	G	T	105781206	3	4	78	1	0	0	0	0	1	0	0	0	6797	1377	48	3	1238	3	GRIA4	11	105781206	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	20095401	105781206	29225310	178	20546											
NPAT	4863	genome.wustl.edu	37	chr11	108057217	108057217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtcacttactttttctaCtgcaaaagcgtttggatctt	10	16	7	8	1	3	1	1	0	2	1	3	2	3	2	0	1	4	2	0	1	4	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:108057217C>T	ENST00000278612.8	-	8	823	c.718G>A	c.(718-720)Gta>Ata	p.V240I	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	240	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTTTTTCTACTGCAAAAGCG	0.333																																																	0													108	99	102					11																	108057217		1803	4071	5874	SO:0001583	missense	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.718G>A	11.37:g.108057217C>T	ENSP00000278612:p.Val240Ile		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.V240I	ENST00000278612.8	37	c.718	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016942	0.54576	.	.	ENSG00000149308	ENST00000278612	T	0.04706	3.57	5.76	5.76	0.90799	.	0.203184	0.43919	D	0.000516	T	0.06005	0.0156	L	0.35723	1.085	0.34765	D	0.73308	P;P	0.35011	0.48;0.48	B;B	0.38500	0.275;0.275	T	0.34925	-0.9809	10	0.36615	T	0.2	-16.9085	10.9378	0.47255	0.0:0.9147:0.0:0.0853	.	240;240	B9EG70;Q14207	.;NPAT_HUMAN	I	240	ENSP00000278612:V240I	ENSP00000278612:V240I	V	-	1	0	NPAT	107562427	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.700000	0.47085	2.721000	0.93114	0.655000	0.94253	GTA	NPAT	-	NULL	ENSG00000149308		0.333	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	-	0	49	0	C	NM_002519		108057217	-1	tier1	-	no_errors	ENST00000278612	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	108057217	C	T	108057217	3	4	78	1	0	0	0	0	1	0	0	0	10605	565	20	3	3609	3	NPAT	11	108057217	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2276011	108057217	26949299	179	20547											
NPAT	4863	genome.wustl.edu	37	chr11	108057247	108057247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttggatcttggaaattccGtattgttgaatgagggccag	9	14	13	5	1	1	2	0	2	1	0	2	4	2	4	2	3	0	3	2	3	3	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:108057247G>A	ENST00000278612.8	-	8	793	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	230	Interaction with MIZF.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGAAATTCCGTATTGTTGAA	0.318																																																	0													110	104	106					11																	108057247		1810	4075	5885	SO:0001583	missense	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.688C>T	11.37:g.108057247G>A	ENSP00000278612:p.Arg230Trp		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R230W	ENST00000278612.8	37	c.688	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477146	0.44044	.	.	ENSG00000149308	ENST00000278612	T	0.04862	3.54	5.39	3.45	0.39498	.	0.118536	0.53938	N	0.000043	T	0.07503	0.0189	L	0.60455	1.87	0.39266	D	0.964293	B;B	0.19817	0.039;0.039	B;B	0.16289	0.015;0.015	T	0.12167	-1.0558	10	0.87932	D	0	-3.1871	6.2782	0.20993	0.0865:0.0:0.5872:0.3263	.	230;230	B9EG70;Q14207	.;NPAT_HUMAN	W	230	ENSP00000278612:R230W	ENSP00000278612:R230W	R	-	1	2	NPAT	107562457	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.189000	0.17037	0.595000	0.29777	0.655000	0.94253	CGG	NPAT	-	NULL	ENSG00000149308		0.318	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2		0	55	0	G	NM_002519		108057247	-1			no_errors	ENST00000278612	ensembl	human	known	74_37	missense	6.12	45	3	SNP	1.000	A	A	108057247	G	A	108057247	3	1	78	1	0	0	0	0	1	0	0	0	10605	1144	40	1	3639	1	NPAT	11	108057247	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	30	108057247	26949269	180	20548											
ATM	472	genome.wustl.edu	37	chr11	108106561	108106561	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctcagcaacagtggttaGgtatgttttgaaggttgttg	9	16	12	4	0	1	1	1	1	1	0	2	1	1	1	0	3	2	6	0	3	5	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:108106561G>T	ENST00000452508.2	+	6	685	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	ATM_ENST00000278616.4_Splice_Site_p.E166*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	166					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACAGTGGTTAGGTATGTTTTG	0.378			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													214	216	215					11																	108106561		2201	4298	6499	SO:0001630	splice_region_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.496+1G>T	11.37:g.108106561G>T			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E166*	ENST00000452508.2	37	c.496	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.386122	0.97524	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.62	5.62	0.85841	.	0.170721	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	.	.	.	X	166	.	ENSP00000278616:E166X	E	+	1	0	ATM	107611771	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	5.374000	0.66167	2.810000	0.96702	0.585000	0.79938	GAA	ATM	-	NULL	ENSG00000149311		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	75	0	G	NM_000051	Nonsense_Mutation	108106561	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	108106561	G	T	108106561	5	4	78	1	0	0	0	0	0	0	1	0	1110	1014	35	3	510	3	ATM	11	108106561	Splice_Site	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	49314	108106561	26899955	181	20549											
SIK3	23387	genome.wustl.edu	37	chr11	116730204	116730204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtgactgagcaggctGctgcatacccaagcaggtta	9	9	12	11	0	0	2	0	2	0	0	0	2	0	2	1	2	6	7	1	2	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:116730204G>T	ENST00000292055.4	-	19	2259	c.2224C>A	c.(2224-2226)Cag>Aag	p.Q742K	SIK3_ENST00000375288.1_Missense_Mutation_p.Q137K|SIK3_ENST00000375300.1_Missense_Mutation_p.Q800K|SIK3_ENST00000434315.2_Missense_Mutation_p.Q641K|SIK3_ENST00000542607.1_Missense_Mutation_p.Q742K|SIK3_ENST00000446921.2_Missense_Mutation_p.Q800K|SIK3_ENST00000488337.1_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	742	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGAGCAGGCTGCTGCATACCC	0.567											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													104	97	99					11																	116730204		2201	4296	6497	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2224C>A	11.37:g.116730204G>T	ENSP00000292055:p.Gln742Lys	1475	A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.Q800K	ENST00000292055.4	37	c.2398	CCDS8379.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.729907|4.729907	0.89390|0.89390	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000445177;ENST00000446921|ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315	.|T;T;T;T;T	.|0.76316	.|-0.99;-1.01;0.92;-0.87;-0.53	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.39341	.|U	.|0.001389	T|T	0.75568|0.75568	0.3867|0.3867	L|L	0.29908|0.29908	0.895|0.895	0.50632|0.50632	D|D	0.999886|0.999886	.|P;D;D;D;P	.|0.59357	.|0.955;0.985;0.967;0.985;0.873	.|P;P;B;P;B	.|0.49276	.|0.605;0.48;0.396;0.48;0.359	T|T	0.79722|0.79722	-0.1684|-0.1684	5|10	.|0.72032	.|D	.|0.01	.|.	18.2702|18.2702	0.90065|0.90065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|742;742;641;742;137	.|Q9Y2K2-3;A1A5A8;A1A5A9;Q9Y2K2;Q9Y2K2-2	.|.;.;.;SIK3_HUMAN;.	E|K	841;764|800;742;137;742;641	.|ENSP00000364449:Q800K;ENSP00000292055:Q742K;ENSP00000364437:Q137K;ENSP00000438108:Q742K;ENSP00000415873:Q641K	.|ENSP00000292055:Q742K	A|Q	-|-	2|1	0|0	SIK3|SIK3	116235414|116235414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.583000|4.583000	0.60964|0.60964	2.527000|2.527000	0.85204|0.85204	0.561000|0.561000	0.74099|0.74099	GCA|CAG	SIK3	-	NULL	ENSG00000160584		0.567	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding			0	48	0	G	NM_025164		116730204	-1			no_errors	ENST00000375300	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T	T	116730204	G	T	116730204	3	4	78	1	0	0	0	0	1	0	0	0	14364	1328	46	3	1587	3	SIK3	11	116730204	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	8623643	116730204	18276312	182	20550											
SIK3	23387	genome.wustl.edu	37	chr11	116744228	116744228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagcggagagggtcccCgtgggcgcttcagcagctgc	7	6	16	12	3	1	2	1	1	0	1	2	3	2	2	2	3	4	3	2	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:116744228C>T	ENST00000292055.4	-	13	1567	c.1532G>A	c.(1531-1533)cGg>cAg	p.R511Q	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.R569Q|SIK3_ENST00000434315.2_Missense_Mutation_p.R410Q|SIK3_ENST00000542607.1_Missense_Mutation_p.R463Q|SIK3_ENST00000446921.2_Missense_Mutation_p.R521Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	511					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AGAGGGTCCCCGTGGGCGCTT	0.572																																																	0													58	52	54					11																	116744228		2201	4296	6497	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1532G>A	11.37:g.116744228C>T	ENSP00000292055:p.Arg511Gln		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R569Q	ENST00000292055.4	37	c.1706	CCDS8379.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.888705	0.97068	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.73152	-0.69;-0.72;-0.67;-0.3	5.57	5.57	0.84162	Protein kinase-like domain (1);	0.000000	0.37304	U	0.002146	T	0.81029	0.4738	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	1.0;0.985;1.0	D;B;D	0.83275	0.996;0.366;0.963	T	0.81826	-0.0754	10	0.87932	D	0	.	19.8929	0.96937	0.0:1.0:0.0:0.0	.	463;410;511	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	Q	569;511;463;410	ENSP00000364449:R569Q;ENSP00000292055:R511Q;ENSP00000438108:R463Q;ENSP00000415873:R410Q	ENSP00000292055:R511Q	R	-	2	0	SIK3	116249438	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.228000	0.78079	2.772000	0.95346	0.650000	0.86243	CGG	SIK3	-	NULL	ENSG00000160584		0.572	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		-	0	56	0	C	NM_025164		116744228	-1	tier1	-	no_errors	ENST00000375300	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	T	T	116744228	C	T	116744228	3	4	78	1	0	0	0	0	1	0	0	0	14364	652	23	1	2303	1	SIK3	11	116744228	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	14024	116744228	18262288	183	20551											
PCSK7	9159	genome.wustl.edu	37	chr11	117090434	117090434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccctgtgtggccctcaGtgcagccagtgcccttctga	5	10	12	14	0	2	1	1	1	1	0	3	1	3	1	4	2	3	1	4	2	0	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:117090434G>T	ENST00000320934.3	-	10	1826	c.1196C>A	c.(1195-1197)aCt>aAt	p.T399N	PCSK7_ENST00000540028.1_Missense_Mutation_p.T40N	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	399	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGGCCCTCAGTGCAGCCAGT	0.592			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													34	32	33					11																	117090434		2201	4296	6497	SO:0001583	missense	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1196C>A	11.37:g.117090434G>T	ENSP00000325917:p.Thr399Asn		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.T399N	ENST00000320934.3	37	c.1196	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.127347	0.94473	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.82081	-1.57;-1.57	5.54	5.54	0.83059	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92435	0.5957	10	0.87932	D	0	-18.7393	18.4799	0.90808	0.0:0.0:1.0:0.0	.	399	Q16549	PCSK7_HUMAN	N	399;40;399	ENSP00000325917:T399N;ENSP00000441944:T40N	ENSP00000325917:T399N	T	-	2	0	PCSK7	116595644	1.000000	0.71417	0.965000	0.40720	0.992000	0.81027	9.396000	0.97270	2.615000	0.88500	0.557000	0.71058	ACT	PCSK7	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000160613		0.592	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2		0	18	0	G	NM_004716		117090434	-1			no_errors	ENST00000320934	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	117090434	G	T	117090434	3	4	78	1	0	0	0	0	1	0	0	0	11644	1029	36	3	1193	3	PCSK7	11	117090434	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	346206	117090434	17916082	184	20552											
C11orf61	79684	genome.wustl.edu	37	chr11	124670237	124670237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcttcggaatttttagcgGcgagttggcgggcagctccg	6	11	14	10	5	1	0	0	0	1	0	3	2	2	1	1	4	2	3	1	4	2	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:124670237G>A	ENST00000374979.3	-	1	48	c.40C>T	c.(40-42)Ccg>Tcg	p.P14S	MSANTD2_ENST00000239614.4_Missense_Mutation_p.P14S|RP11-677M14.7_ENST00000499143.2_RNA|RP11-677M14.7_ENST00000529392.1_RNA|MSANTD2_ENST00000524950.1_Missense_Mutation_p.P14S			Q6P1R3	MSD2_HUMAN	Myb/SANT-like DNA-binding domain containing 2	14																	ATTTTTAGCGGCGAGTTGGCG	0.687																																																	0													9	12	11					11																	124670237		2142	4186	6328	SO:0001583	missense	0			AK026995	CCDS8454.1, CCDS73408.1	11q24.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000120458	ENSG00000120458			26266	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 61"	C11orf61			Standard	NM_024631		Approved	FLJ23342	uc001qaz.1	Q6P1R3	OTTHUMG00000165931	ENST00000374979.3:c.40C>T	11.37:g.124670237G>A	ENSP00000364118:p.Pro14Ser		B3KRY6|Q9H042|Q9H5K8	Missense_Mutation	SNP	NULL	p.P14S	ENST00000374979.3	37	c.40		11	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480531	0.44044	.	.	ENSG00000120458	ENST00000239614;ENST00000374979;ENST00000524950	.	.	.	4.88	3.94	0.45596	.	0.168866	0.39083	N	0.001467	T	0.31606	0.0802	L	0.36672	1.1	0.36646	D	0.877141	P;B	0.37781	0.608;0.001	B;B	0.32289	0.143;0.003	T	0.33292	-0.9874	9	0.46703	T	0.11	-7.9739	6.6758	0.23093	0.0967:0.1835:0.7198:0.0	.	14;14	Q6P1R3;Q6P1R3-3	CK061_HUMAN;.	S	14	.	ENSP00000239614:P14S	P	-	1	0	C11orf61	124175447	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.719000	0.47244	1.007000	0.39238	0.563000	0.77884	CCG	MSANTD2	-	NULL	ENSG00000120458		0.687	MSANTD2-002	KNOWN	basic|appris_principal|exp_conf	protein_coding	MSANTD2	HGNC	protein_coding	OTTHUMT00000387084.1	-	0	71	0	G	NM_024631		124670237	-1	tier1	-	no_errors	ENST00000374979	ensembl	human	known	74_37	missense	10.26	34	4	SNP	1.000	A	A	124670237	G	A	124670237	3	1	78	1	0	0	0	0	1	0	0	0	1658	1203	42	3	1499	3	C11orf61	11	124670237	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	7579803	124670237	10336279	185	20553											
PKNOX2	63876	genome.wustl.edu	37	chr11	125301195	125301195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggatgagatggaagaGgaggaggaggaggagctgga	14	4	22	1	0	0	3	0	2	0	2	0	13	0	11	0	8	1	1	0	8	1	0	rs397840770|rs397849304|rs3832749	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:125301195G>A	ENST00000298282.9	+	13	1597	c.1326G>A	c.(1324-1326)gaG>gaA	p.E442E	PKNOX2_ENST00000542175.1_Silent_p.E378E|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	442	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		agatggaagaggaggaggagg	0.572																																																	0													47	49	49					11																	125301195		2176	4267	6443	SO:0001819	synonymous_variant	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"Homeoboxes / TALE class"	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1326G>A	11.37:g.125301195G>A			B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.E442	ENST00000298282.9	37	c.1326	CCDS41730.1	11																																																																																			PKNOX2	-	NULL	ENSG00000165495		0.572	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX2	HGNC	protein_coding	OTTHUMT00000386866.3		0	20	0	G			125301195	1			no_errors	ENST00000298282	ensembl	human	known	74_37	silent	17.39	19	4	SNP	1.000	A	A	125301195	G	A	125301195	2	1	78	1	0	0	0	0	0	0	0	1	12022	991	35	3		3	PKNOX2	11	125301195	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	630958	125301195	9705321	186	20554											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128840479	128840479	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttataacgaagacccatGgaggctggtggctctgacct	9	10	13	9	1	1	2	0	1	1	1	1	4	1	3	2	4	1	3	2	4	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:128840479G>T	ENST00000310343.9	-	22	4586	c.4587C>A	c.(4585-4587)tcC>tcA	p.S1529S	ARHGAP32_ENST00000527272.1_Silent_p.S1180S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Silent_p.S1180S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1529	Interaction with GAB2.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGACCCATGGAGGCTGGTG	0.532																																																	0													80	73	76					11																	128840479		2201	4297	6498	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4587C>A	11.37:g.128840479G>T			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S1529	ENST00000310343.9	37	c.4587	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.532	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	88	0	G	NM_014715		128840479	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.797	T	T	128840479	G	T	128840479	2	4	78	1	0	0	0	0	0	0	0	1	881	1335	47	3		3	ARHGAP32	11	128840479	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3539284	128840479	6166037	187	20555											
THYN1	29087	genome.wustl.edu	37	chr11	134118702	134118702	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggagagggcccactcttaCcctgggtcaggggctggatt	8	8	15	10	0	2	1	1	0	1	1	2	3	2	2	2	6	1	1	2	6	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr11:134118702C>T	ENST00000341541.3	-	6	1093		c.e6+1		THYN1_ENST00000392594.3_Splice_Site|THYN1_ENST00000352327.5_Intron|THYN1_ENST00000392595.2_Splice_Site|THYN1_ENST00000525677.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1							nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		cccactcttaccctgggtcag	0.453																																																	0													77	83	81					11																	134118702		2201	4297	6498	SO:0001630	splice_region_variant	0			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.631+1G>A	11.37:g.134118702C>T			Q567Q2|Q9H3L4|Q9HC20	Splice_Site	SNP	-	e6+1	ENST00000341541.3	37	c.631+1	CCDS8496.1	11																																																																																			THYN1	-	-	ENSG00000151500		0.453	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	-	0	54	0	C	NM_014174	Intron	134118702	-1	tier1	-	no_errors	ENST00000341541	ensembl	human	known	74_37	splice_site	20.00	24	6	SNP	1.000	T	T	134118702	C	T	134118702	5	4	78	1	0	0	0	0	0	0	1	0	15933	521	18	3	53	3	THYN1	11	134118702	Splice_Site	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	5278223	134118702	887814	188	20556											
CACNA1C	775	genome.wustl.edu	37	chr12	2706457	2706457	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgaaattgctctgaaggTaaagcccccatccccttctg	10	11	7	13	0	2	2	0	2	2	0	3	2	3	2	4	1	2	2	4	1	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:2706457T>G	ENST00000347598.4	+	21	2853		c.e21+2		CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000335762.5_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTGAAGGTAAAGCCCCCA	0.493																																																	0													172	177	175					12																	2706457		1936	4143	6079	SO:0001630	splice_region_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2853+2T>G	12.37:g.2706457T>G			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	-	e21+2	ENST00000347598.4	37	c.2853+2	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583429	0.86748	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000347598;ENST00000399606;ENST00000344100;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1687	0.72850	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2576718	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.235000	0.73313	0.533000	0.62120	.	CACNA1C	-	-	ENSG00000151067		0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	107	0	T	NM_000719	Intron	2706457	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	splice_site	8.33	99	9	SNP	1.000	G	G	2706457	T	G	2706457	5	3	78	1	0	0	0	0	0	0	1	0	2547	1652	57	4	3045	4	CACNA1C	12	2706457	Splice_Site	SNP	T	TCGA-L5-A893-01A-11D-A36J-09		2706457	131145438	189	20557											
LTBR	4055	genome.wustl.edu	37	chr12	6499472	6499472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgaccagggagccgcaGttggaacccggggagcagag	10	3	17	11	2	0	2	0	1	0	1	0	6	0	5	4	4	3	3	4	4	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:6499472G>A	ENST00000228918.4	+	9	1322	c.996G>A	c.(994-996)caG>caA	p.Q332Q	LTBR_ENST00000541102.1_Silent_p.Q189Q|LTBR_ENST00000539925.1_Silent_p.Q313Q	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	332					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GGGAGCCGCAGTTGGAACCCG	0.657																																																	0													24	25	24					12																	6499472		2203	4298	6501	SO:0001819	synonymous_variant	0			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"Tumor necrosis factor receptor superfamily"	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.996G>A	12.37:g.6499472G>A			B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	pirsf_TNFR_3_LTBR,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_3_LTBR,pfscan_TNFR/NGFR_Cys_rich_reg	p.Q332	ENST00000228918.4	37	c.996	CCDS8544.1	12																																																																																			LTBR	-	pirsf_TNFR_3_LTBR	ENSG00000111321		0.657	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	-	0	82	0	G			6499472	1	tier1	-	no_errors	ENST00000228918	ensembl	human	known	74_37	silent	13.19	79	12	SNP	0.000	A	A	6499472	G	A	6499472	2	1	78	1	0	0	0	0	0	0	0	1	9112	1020	36	3		3	LTBR	12	6499472	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3793015	6499472	127352423	190	20558											
CLSTN3	9746	genome.wustl.edu	37	chr12	7310201	7310201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgtctcaggggccggcGggcctccaggggcctccagt	3	5	17	16	4	1	0	1	0	1	0	4	0	3	0	6	6	0	0	6	6	0	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:7310201G>T	ENST00000266546.6	+	17	3094	c.2644G>T	c.(2644-2646)Ggg>Tgg	p.G882W	CLSTN3_ENST00000537408.1_Missense_Mutation_p.G894W|CLSTN3_ENST00000331148.5_3'UTR	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	882					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AGGGGCCGGCGGGCCTCCAGG	0.637																																																	0													28	28	28					12																	7310201		2203	4299	6502	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2644G>T	12.37:g.7310201G>T	ENSP00000266546:p.Gly882Trp		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G882W	ENST00000266546.6	37	c.2644	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428569	0.43122	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.34275	1.37;1.37	5.02	3.13	0.36017	.	0.307768	0.26136	N	0.026132	T	0.40015	0.1100	N	0.14661	0.345	0.43942	D	0.996601	D;D;D	0.89917	1.0;0.974;0.974	D;P;B	0.87578	0.998;0.55;0.422	T	0.33214	-0.9877	10	0.66056	D	0.02	-16.4348	10.6793	0.45804	0.0726:0.1319:0.7955:0.0	.	224;894;882	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	W	882;894	ENSP00000266546:G882W;ENSP00000440679:G894W	ENSP00000266546:G882W	G	+	1	0	CLSTN3	7201468	0.973000	0.33851	0.062000	0.19696	0.043000	0.13939	2.088000	0.41663	0.663000	0.31027	0.462000	0.41574	GGG	CLSTN3	-	NULL	ENSG00000139182		0.637	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	-	0	34	0	G	NM_014718		7310201	1	tier1	-	no_errors	ENST00000266546	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.908	T	T	7310201	G	T	7310201	3	4	78	1	0	0	0	0	1	0	0	0	3570	1116	39	2	2710	2	CLSTN3	12	7310201	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	810729	7310201	126541694	191	20559											
KLRG1	10219	genome.wustl.edu	37	chr12	9142277	9142277	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttagagttgcctacggcaAcccaagcccagaatgactat	12	9	9	11	1	0	3	0	1	0	2	0	3	0	3	3	1	4	3	3	1	6	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:9142277A>T	ENST00000266551.4	+	1	61	c.46A>T	c.(46-48)Acc>Tcc	p.T16S	KLRG1_ENST00000356986.3_Missense_Mutation_p.T16S|KLRG1_ENST00000538029.1_Intron|RP11-259O18.4_ENST00000545706.1_RNA	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	16					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GCCTACGGCAACCCAAGCCCA	0.418																																																	0													96	92	93					12																	9142277		2203	4300	6503	SO:0001583	missense	0			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"Killer cell lectin-like receptors", "C-type lectin domain containing"	6380	protein-coding gene	gene with protein product	"C-type lectin domain family 15, member A"	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.46A>T	12.37:g.9142277A>T	ENSP00000266551:p.Thr16Ser		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T16S	ENST00000266551.4	37	c.46		12	.	.	.	.	.	.	.	.	.	.	A	1.669	-0.509447	0.04231	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.01215	5.16;5.27	3.9	-3.47	0.04753	.	1.827130	0.03003	N	0.148411	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.43310	-0.9399	10	0.02654	T	1	4.4921	3.1821	0.06588	0.1601:0.5308:0.1114:0.1977	.	16;16	Q96E93;Q96E93-2	KLRG1_HUMAN;.	S	16	ENSP00000349477:T16S;ENSP00000266551:T16S	ENSP00000266551:T16S	T	+	1	0	KLRG1	9033544	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.995000	0.03712	-0.746000	0.04766	-0.323000	0.08544	ACC	KLRG1	-	NULL	ENSG00000139187		0.418	KLRG1-002	KNOWN	basic	protein_coding	KLRG1	HGNC	protein_coding	OTTHUMT00000399145.1	-	0	31	0	A	NM_005810		9142277	1	tier1	-	no_errors	ENST00000266551	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.000	T	T	9142277	A	T	9142277	3	4	78	1	0	0	0	0	1	0	0	0	8448	43	2	5	48	5	KLRG1	12	9142277	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	1832076	9142277	124709618	192	20560											
PDE3A	5139	genome.wustl.edu	37	chr12	20806960	20806960	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctggccaaccttcaggAatccttcatctctcacattg	9	12	6	14	0	5	0	4	0	1	0	7	1	6	1	3	2	2	1	3	2	2	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:20806960A>T	ENST00000359062.3	+	15	3045	c.3005A>T	c.(3004-3006)gAa>gTa	p.E1002V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1002	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AACCTTCAGGAATCCTTCATC	0.488																																																	0													96	89	91					12																	20806960		2203	4300	6503	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.3005A>T	12.37:g.20806960A>T	ENSP00000351957:p.Glu1002Val		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.E1002V	ENST00000359062.3	37	c.3005	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961827	0.74016	.	.	ENSG00000172572	ENST00000359062	T	0.74106	-0.81	5.31	5.31	0.75309	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	N	0.04090	-0.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65034	-0.6266	10	0.02654	T	1	.	15.5617	0.76253	1.0:0.0:0.0:0.0	.	1002	Q14432	PDE3A_HUMAN	V	1002	ENSP00000351957:E1002V	ENSP00000351957:E1002V	E	+	2	0	PDE3A	20698227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.851000	0.92205	2.147000	0.66899	0.533000	0.62120	GAA	PDE3A	-	pfam_PDEase_catalytic_dom	ENSG00000172572		0.488	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	-	0	37	0	A			20806960	1	tier1	-	no_errors	ENST00000359062	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	T	T	20806960	A	T	20806960	3	4	78	1	0	0	0	0	1	0	0	0	11676	246	9	5	3063	5	PDE3A	12	20806960	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	11664683	20806960	113044935	193	20561											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21325664	21325664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagttccatcattcatatAgaacggagatttgagatatc	16	12	7	6	1	2	3	2	1	0	3	4	5	3	3	1	1	1	1	1	1	6	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:21325664A>G	ENST00000256958.2	+	3	261	c.165A>G	c.(163-165)atA>atG	p.I55M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	55					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TCATTCATATAGAACGGAGAT	0.328																																																	0													151	140	143					12																	21325664		2203	4298	6501	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.165A>G	12.37:g.21325664A>G	ENSP00000256958:p.Ile55Met		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.I55M	ENST00000256958.2	37	c.165	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	A	14.25	2.479650	0.44044	.	.	ENSG00000134538	ENST00000256958	T	0.55930	0.49	3.36	0.689	0.18033	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.89163	3.01	0.39554	D	0.969027	D	0.76494	0.999	D	0.78314	0.991	T	0.67169	-0.5738	10	0.62326	D	0.03	.	5.2203	0.15366	0.2961:0.4029:0.0:0.301	.	55	Q9Y6L6	SO1B1_HUMAN	M	55	ENSP00000256958:I55M	ENSP00000256958:I55M	I	+	3	3	SLCO1B1	21216931	0.901000	0.30685	0.998000	0.56505	0.854000	0.48673	0.008000	0.13197	0.015000	0.14971	0.260000	0.18958	ATA	SLCO1B1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	-	0	76	0	A	NM_006446		21325664	1	tier1	-	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	18.45	84	19	SNP	0.985	G	G	21325664	A	G	21325664	3	3	78	1	0	0	0	0	1	0	0	0	14768	410	15	4	171	4	SLCO1B1	12	21325664	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	518704	21325664	112526231	194	20562											
KCNJ8	3764	genome.wustl.edu	37	chr12	21926388	21926388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtcctgtagaaagcGtccttgctcacggatgttct	9	12	11	9	2	2	2	1	0	1	2	4	4	4	3	2	1	2	3	2	1	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:21926388G>C	ENST00000240662.2	-	2	508	c.163C>G	c.(163-165)Cgc>Ggc	p.R55G		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	55					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TGTAGAAAGCGTCCTTGCTCA	0.602											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													153	128	136					12																	21926388		2203	4300	6503	SO:0001583	missense	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.163C>G	12.37:g.21926388G>C	ENSP00000240662:p.Arg55Gly	752	O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.R55G	ENST00000240662.2	37	c.163	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288601	0.80914	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.96856	-4.15;-4.15	4.6	3.7	0.42460	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99129	1.0852	10	0.87932	D	0	.	14.1391	0.65308	0.0:0.0:0.8489:0.1511	.	55	Q15842	IRK8_HUMAN	G	55	ENSP00000240662:R55G;ENSP00000440012:R55G	ENSP00000240662:R55G	R	-	1	0	KCNJ8	21817655	1.000000	0.71417	0.904000	0.35570	0.997000	0.91878	4.560000	0.60802	1.135000	0.42183	0.591000	0.81541	CGC	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000121361		0.602	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	-	0	71	0	G	NM_004982		21926388	-1	tier1	-	no_errors	ENST00000240662	ensembl	human	known	74_37	missense	30.99	48	22	SNP	1.000	C	C	21926388	G	C	21926388	3	2	78	1	0	0	0	0	1	0	0	0	8083	1145	40	5	1119	5	KCNJ8	12	21926388	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	600724	21926388	111925507	195	20563											
CAPRIN2	65981	genome.wustl.edu	37	chr12	30862907	30862907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccataaattgctcccctgtGcagacgtaaccatatctggt	10	12	7	12	1	1	1	0	0	1	1	3	1	3	1	4	1	3	3	4	1	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:30862907G>T	ENST00000298892.5	-	17	3913	c.3163C>A	c.(3163-3165)Cac>Aac	p.H1055N	CAPRIN2_ENST00000308433.5_Missense_Mutation_p.H771N|CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.H1105N	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCTCCCCTGTGCAGACGTAAC	0.418																																																	0													112	103	106					12																	30862907		2203	4300	6503	SO:0001583	missense	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.3163C>A	12.37:g.30862907G>T	ENSP00000298892:p.His1055Asn			Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.H1105N	ENST00000298892.5	37	c.3313	CCDS8720.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720577	0.89205	.	.	ENSG00000110888	ENST00000298892;ENST00000251071;ENST00000308433	D;D;D	0.85702	-2.02;-2.02;-2.02	5.4	5.4	0.78164	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.044917	0.85682	D	0.000000	D	0.89931	0.6858	L	0.39326	1.205	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.995	D	0.90660	0.4589	10	0.87932	D	0	-11.5127	19.5286	0.95215	0.0:0.0:1.0:0.0	.	1105;1055	Q6IMN6;Q6IMN6-2	CAPR2_HUMAN;.	N	1055;1105;771	ENSP00000298892:H1055N;ENSP00000251071:H1105N;ENSP00000309785:H771N	ENSP00000251071:H1105N	H	-	1	0	CAPRIN2	30754174	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.556000	0.98127	2.682000	0.91365	0.655000	0.94253	CAC	CAPRIN2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000110888		0.418	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000402778.1		0	64	0	G	NM_023925		30862907	-1			no_errors	ENST00000251071	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	30862907	G	T	30862907	3	4	78	1	0	0	0	0	1	0	0	0	2643	1319	46	3	74	3	CAPRIN2	12	30862907	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	8936519	30862907	102988988	196	20564											
DBX2	440097	genome.wustl.edu	37	chr12	45444438	45444438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgccccggcggggctaacTtgttcggctgcggggcacag	4	6	18	13	5	0	0	0	0	0	0	1	0	0	0	2	7	2	4	2	7	1	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:45444438T>C	ENST00000332700.6	-	1	444	c.273A>G	c.(271-273)caA>caG	p.Q91Q	RP11-478B9.1_ENST00000548424.1_RNA	NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	91					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CGGGGCTAACTTGTTCGGCTG	0.741																																																	0													3	4	4					12																	45444438		1906	3859	5765	SO:0001819	synonymous_variant	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.273A>G	12.37:g.45444438T>C				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.Q91	ENST00000332700.6	37	c.273	CCDS31781.1	12																																																																																			DBX2	-	NULL	ENSG00000185610		0.741	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	HGNC	protein_coding	OTTHUMT00000404810.1	-	0	20	0	T	NM_001004329		45444438	-1	tier1	-	no_errors	ENST00000332700	ensembl	human	known	74_37	silent	29.63	19	8	SNP	0.982	C	C	45444438	T	C	45444438	2	2	78	1	0	0	0	0	0	0	0	1	4269	1606	56	4		4	DBX2	12	45444438	Silent	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	14581531	45444438	88407457	197	20565											
OR6C4	341418	genome.wustl.edu	37	chr12	55945623	55945623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttggccgttgtgactCtcatggttactctggtgctg	3	16	11	11	1	3	1	1	1	3	0	5	1	4	1	2	3	2	3	2	3	1	3	rs112164856	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:55945623C>A	ENST00000394256.2	+	1	641	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CGTTGTGACTCTCATGGTTAC	0.483																																																	0													164	138	147					12																	55945623		2203	4300	6503	SO:0001583	missense	0			BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"GPCR / Class A : Olfactory receptors"	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.613C>A	12.37:g.55945623C>A	ENSP00000377799:p.Leu205Ile		A8MZG7|B2RNN2|Q6IFK1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L205I	ENST00000394256.2	37	c.613	CCDS31827.1	12	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587967	0.28268	.	.	ENSG00000179626	ENST00000394256	T	0.37584	1.19	4.94	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001430	T	0.45657	0.1353	L	0.49699	1.58	0.09310	N	1	D	0.64830	0.994	P	0.62382	0.901	T	0.29671	-1.0004	10	0.72032	D	0.01	.	6.2106	0.20628	0.0:0.6891:0.0:0.3109	.	205	Q8NGE1	OR6C4_HUMAN	I	205	ENSP00000377799:L205I	ENSP00000377799:L205I	L	+	1	0	OR6C4	54231890	0.000000	0.05858	0.580000	0.28601	0.016000	0.09150	-2.460000	0.00999	1.450000	0.47717	0.650000	0.86243	CTC	OR6C4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179626		0.483	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C4	HGNC	protein_coding	OTTHUMT00000406678.1		0	20	0	C			55945623	1			no_errors	ENST00000394256	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.002	A	A	55945623	C	A	55945623	3	1	78	1	0	0	0	0	1	0	0	0	11232	913	32	3	615	3	OR6C4	12	55945623	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	10501185	55945623	77906272	198	20566											
GRIP1	23426	genome.wustl.edu	37	chr12	66773066	66773066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgaaaaccttacccactgGctgtggaccggtcccagtct	8	10	10	13	1	1	1	0	1	1	0	2	2	2	2	4	3	2	2	4	3	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:66773066G>T	ENST00000398016.3	-	19	2527	c.2459C>A	c.(2458-2460)gCc>gAc	p.A820D	GRIP1_ENST00000359742.4_Missense_Mutation_p.A872D|GRIP1_ENST00000286445.7_Missense_Mutation_p.A872D	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTACCCACTGGCTGTGGACCG	0.498																																																	0													169	164	166					12																	66773066		1943	4136	6079	SO:0001583	missense	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2459C>A	12.37:g.66773066G>T	ENSP00000381098:p.Ala820Asp		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A872D	ENST00000398016.3	37	c.2615	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.85|13.85	2.359245|2.359245	0.41801|0.41801	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18|.	4.91|4.91	2.98|2.98	0.34508|0.34508	.|.	0.598172|.	0.18609|.	N|.	0.136206|.	T|T	0.55242|0.55242	0.1908|0.1908	L|L	0.44542|0.44542	1.39|1.39	0.37541|0.37541	D|D	0.91831|0.91831	B;B;B;B|.	0.28933|.	0.053;0.024;0.228;0.068|.	B;B;B;B|.	0.31946|.	0.008;0.037;0.138;0.124|.	T|T	0.54912|0.54912	-0.8222|-0.8222	9|5	.|.	.|.	.|.	-7.3265|-7.3265	10.6513|10.6513	0.45649|0.45649	0.121:0.0:0.879:0.0|0.121:0.0:0.879:0.0	.|.	820;872;820;872|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	D|T	820;872;872;820;764;712|687	ENSP00000381098:A820D;ENSP00000352780:A872D;ENSP00000286445:A872D;ENSP00000446047:A820D;ENSP00000446024:A764D;ENSP00000446011:A712D|.	.|.	A|P	-|-	2|1	0|0	GRIP1|GRIP1	65059333|65059333	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.970000|0.970000	0.65996|0.65996	4.685000|4.685000	0.61693|0.61693	0.685000|0.685000	0.31468|0.31468	0.561000|0.561000	0.74099|0.74099	GCC|CCA	GRIP1	-	NULL	ENSG00000155974		0.498	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	-	0	75	0	G			66773066	-1	tier1	-	no_errors	ENST00000359742	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.911	T	T	66773066	G	T	66773066	3	4	78	1	0	0	0	0	1	0	0	0	6814	1203	42	3	795	3	GRIP1	12	66773066	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10827443	66773066	67078829	199	20567											
TMTC3	160418	genome.wustl.edu	37	chr12	88586397	88586397	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagaggagaattgcttttaAaaatgaataaacctcttaaa	19	11	6	5	0	1	3	0	1	1	2	1	4	1	3	1	1	2	1	1	1	9	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:88586397A>T	ENST00000266712.6	+	13	1943	c.1723A>T	c.(1723-1725)Aaa>Taa	p.K575*		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	575					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATTGCTTTTAAAAATGAATAA	0.328																																																	0													57	61	59					12																	88586397		2203	4299	6502	SO:0001587	stop_gained	0				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"Tetratricopeptide (TTC) repeat domain containing"	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1723A>T	12.37:g.88586397A>T	ENSP00000266712:p.Lys575*		Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K575*	ENST00000266712.6	37	c.1723	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	A	40	8.389617	0.98789	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.2351	15.9748	0.80054	1.0:0.0:0.0:0.0	.	.	.	.	X	575	.	ENSP00000266712:K575X	K	+	1	0	TMTC3	87110528	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.319000	0.96338	2.183000	0.69458	0.477000	0.44152	AAA	TMTC3	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000139324		0.328	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	-	0	77	0	A	NM_181783		88586397	1	tier1	-	no_errors	ENST00000266712	ensembl	human	known	74_37	nonsense	43.10	33	25	SNP	1.000	T	T	88586397	A	T	88586397	4	4	78	1	0	0	0	0	0	1	0	0	16309	15	1	5	1769	5	TMTC3	12	88586397	Nonsense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	21813331	88586397	45265498	200	20568											
DCN	1634	genome.wustl.edu	37	chr12	91539903	91539903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaaggtggatggctgtatctCccagtactggaccgggttgc	7	10	15	9	1	1	0	0	0	1	0	2	3	1	2	2	5	2	4	2	5	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:91539903C>G	ENST00000052754.5	-	8	1513	c.1012G>C	c.(1012-1014)Gag>Cag	p.E338Q	DCN_ENST00000303320.3_Missense_Mutation_p.E151Q|DCN_ENST00000425043.1_Missense_Mutation_p.E191Q|DCN_ENST00000552962.1_Missense_Mutation_p.E338Q|DCN_ENST00000441303.2_Missense_Mutation_p.E151Q|DCN_ENST00000547568.2_Missense_Mutation_p.E191Q|DCN_ENST00000228329.5_Missense_Mutation_p.E229Q|DCN_ENST00000393155.1_Missense_Mutation_p.E338Q|DCN_ENST00000420120.2_Missense_Mutation_p.E229Q	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	338					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GGCTGTATCTCCCAGTACTGG	0.468																																																	0													135	129	131					12																	91539903		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.1012G>C	12.37:g.91539903C>G	ENSP00000052754:p.Glu338Gln		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.E338Q	ENST00000052754.5	37	c.1012	CCDS9039.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.069920|4.069920	0.76301|0.76301	.|.	.|.	ENSG00000011465|ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000303320;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000441303;ENST00000547568|ENST00000548218	T;T;T;T;T;T;T;T;T|.	0.78003|.	3.62;3.62;-1.14;3.62;0.27;3.62;3.62;-1.14;0.27|.	5.86|5.86	4.96|4.96	0.65561|0.65561	.|.	0.091890|.	0.64402|.	N|.	0.000001|.	T|T	0.71048|0.71048	0.3294|0.3294	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	P;B;P;D|.	0.54601|.	0.763;0.241;0.785;0.967|.	B;B;B;B|.	0.41691|.	0.082;0.104;0.29;0.364|.	T|T	0.69684|0.69684	-0.5079|-0.5079	10|5	0.59425|.	D|.	0.04|.	.|.	17.2296|17.2296	0.86981|0.86981	0.0:0.8744:0.1256:0.0|0.0:0.8744:0.1256:0.0	.|.	338;151;191;229|.	P07585;P07585-4;P07585-3;P07585-2|.	PGS2_HUMAN;.;.;.|.	Q|A	338;229;151;338;191;338;229;151;191|28	ENSP00000052754:E338Q;ENSP00000228329:E229Q;ENSP00000302031:E151Q;ENSP00000376862:E338Q;ENSP00000401021:E191Q;ENSP00000447654:E338Q;ENSP00000413723:E229Q;ENSP00000399815:E151Q;ENSP00000447674:E191Q|.	ENSP00000052754:E338Q|.	E|G	-|-	1|2	0|0	DCN|DCN	90064034|90064034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.305000|3.305000	0.51873|0.51873	1.460000|1.460000	0.47911|0.47911	0.655000|0.655000	0.94253|0.94253	GAG|GGA	DCN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.468	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0	72	0	C	NM_133507		91539903	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	16.67	60	12	SNP	1.000	G	G	91539903	C	G	91539903	3	3	78	1	0	0	0	0	1	0	0	0	4306	864	30	5	71	5	DCN	12	91539903	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2953506	91539903	42311992	201	20569											
SLC5A8	160728	genome.wustl.edu	37	chr12	101581192	101581192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagacactttcttggctGtccaaggatcacagtcatgg	9	11	11	10	0	3	1	2	0	1	1	4	2	4	2	1	3	1	2	1	3	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:101581192G>T	ENST00000536262.2	-	7	1493	c.935C>A	c.(934-936)aCa>aAa	p.T312K		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTCTTGGCTGTCCAAGGATC	0.438																																					GBM(60;420 1056 13605 22380 47675)												0													118	109	112					12																	101581192		2203	4300	6503	SO:0001583	missense	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.935C>A	12.37:g.101581192G>T	ENSP00000445340:p.Thr312Lys			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T312K	ENST00000536262.2	37	c.935	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693176	0.88735	.	.	ENSG00000256870	ENST00000536262	D	0.87966	-2.32	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	L	0.56396	1.775	0.80722	D	1	D	0.54601	0.967	P	0.58391	0.838	D	0.90280	0.4314	10	0.41790	T	0.15	.	19.0605	0.93091	0.0:0.0:1.0:0.0	.	312	Q8N695	SC5A8_HUMAN	K	312	ENSP00000445340:T312K	ENSP00000445340:T312K	T	-	2	0	SLC5A8	100105323	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	6.807000	0.75201	2.496000	0.84212	0.460000	0.39030	ACA	SLC5A8	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000256870		0.438	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1		0	71	0	G	NM_145913		101581192	-1			no_errors	ENST00000536262	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	101581192	G	T	101581192	3	4	78	1	0	0	0	0	1	0	0	0	14716	1377	48	3	933	3	SLC5A8	12	101581192	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10041289	101581192	32270703	202	20570											
UTP20	27340	genome.wustl.edu	37	chr12	101702064	101702064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagaagcttcttcatttGagaaaactaagacatgatgt	16	11	9	5	0	2	5	1	2	1	4	2	7	2	5	0	0	2	1	0	0	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:101702064G>A	ENST00000261637.4	+	18	2271	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	699					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTCTTCATTTGAGAAAACTAA	0.408																																																	0													110	108	109					12																	101702064		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.2097G>A	12.37:g.101702064G>A			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L699	ENST00000261637.4	37	c.2097	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.408	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0	58	0	G	NM_014503		101702064	1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.736	A	A	101702064	G	A	101702064	2	1	78	1	0	0	0	0	0	0	0	1	17148	1281	45	3		3	UTP20	12	101702064	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	120872	101702064	32149831	203	20571											
TBX5	6910	genome.wustl.edu	37	chr12	114793733	114793733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaggctgggcacaggctcGctggggggcgcagagctggc	5	6	19	11	2	1	1	0	0	1	1	2	1	1	1	0	7	1	6	0	7	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:114793733G>T	ENST00000310346.4	-	9	1827	c.1161C>A	c.(1159-1161)agC>agA	p.S387R	TBX5_ENST00000405440.2_Missense_Mutation_p.S387R|TBX5_ENST00000349716.5_Missense_Mutation_p.S337R	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	387					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCACAGGCTCGCTGGGGGGCG	0.637																																					NSCLC(152;1358 1980 4050 23898 40356)												0													66	59	61					12																	114793733		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1161C>A	12.37:g.114793733G>T	ENSP00000309913:p.Ser387Arg		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S387R	ENST00000310346.4	37	c.1161	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636987	0.29157	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.46063	0.88;0.88;0.88	5.27	-0.526	0.11913	.	0.197820	0.53938	D	0.000051	T	0.23649	0.0572	L	0.34521	1.04	0.33451	D	0.583655	B	0.23650	0.089	B	0.24974	0.057	T	0.17930	-1.0353	10	0.15952	T	0.53	.	4.9487	0.14002	0.2127:0.0897:0.5536:0.1441	.	387	Q99593	TBX5_HUMAN	R	337;387;284;387	ENSP00000337723:S337R;ENSP00000309913:S387R;ENSP00000384152:S387R	ENSP00000309913:S387R	S	-	3	2	TBX5	113278116	0.006000	0.16342	0.998000	0.56505	0.923000	0.55619	-1.233000	0.02934	-0.005000	0.14395	-0.940000	0.02684	AGC	TBX5	-	NULL	ENSG00000089225		0.637	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0	44	0	G	NM_080717		114793733	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.887	T	T	114793733	G	T	114793733	3	4	78	1	0	0	0	0	1	0	0	0	15708	1078	38	2	399	2	TBX5	12	114793733	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	13091669	114793733	19058162	204	20572											
TBX5	6910	genome.wustl.edu	37	chr12	114803998	114803998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggtacaatggtaaatttgGctatgctcctggggcagtgg	8	13	14	6	0	0	0	0	0	0	0	1	0	1	0	1	6	2	5	1	6	5	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr12:114803998G>T	ENST00000310346.4	-	8	1620	c.954C>A	c.(952-954)agC>agA	p.S318R	TBX5_ENST00000526441.1_Missense_Mutation_p.S318R|TBX5_ENST00000405440.2_Missense_Mutation_p.S318R|TBX5_ENST00000349716.5_Missense_Mutation_p.S268R	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	318					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGTAAATTTGGCTATGCTCCT	0.532																																					NSCLC(152;1358 1980 4050 23898 40356)												0													111	105	107					12																	114803998		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.954C>A	12.37:g.114803998G>T	ENSP00000309913:p.Ser318Arg		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S318R	ENST00000310346.4	37	c.954	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027153	0.35797	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87966	-2.28;-2.32;-2.32;-2.26	5.62	1.32	0.21799	.	0.595343	0.19218	N	0.119759	T	0.80385	0.4613	L	0.50333	1.59	0.42985	D	0.994474	B;B	0.26672	0.156;0.09	B;B	0.34536	0.185;0.034	T	0.64968	-0.6282	10	0.15952	T	0.53	.	4.2296	0.10597	0.0687:0.2297:0.3525:0.3491	.	318;318	Q99593-2;Q99593	.;TBX5_HUMAN	R	268;318;215;318;318	ENSP00000337723:S268R;ENSP00000309913:S318R;ENSP00000384152:S318R;ENSP00000433292:S318R	ENSP00000309913:S318R	S	-	3	2	TBX5	113288381	0.991000	0.36638	0.294000	0.24946	0.931000	0.56810	0.603000	0.24149	0.269000	0.21961	0.655000	0.94253	AGC	TBX5	-	NULL	ENSG00000089225		0.532	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0	90	0	G	NM_080717		114803998	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	39.06	39	25	SNP	0.814	T	T	114803998	G	T	114803998	3	4	78	1	0	0	0	0	1	0	0	0	15708	1194	42	3	677	3	TBX5	12	114803998	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10265	114803998	19047897	205	20573											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20244445	20244445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttattgctcggctctgtgGaccgtgtagtgtacaagctg	7	13	13	8	2	1	0	0	0	1	0	2	1	1	1	1	2	3	6	1	2	4	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:20244445G>A	ENST00000361479.5	+	12	2467	c.2399G>A	c.(2398-2400)gGa>gAa	p.G800E	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.G800E	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	800					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CGGCTCTGTGGACCGTGTAGT	0.393																																																	0													212	192	199					13																	20244445		2203	4300	6503	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2399G>A	13.37:g.20244445G>A	ENSP00000355388:p.Gly800Glu		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.G800E	ENST00000361479.5	37	c.2399	CCDS9287.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.943041|4.943041	0.92526|0.92526	.|.	.|.	ENSG00000196199|ENSG00000196199	ENST00000449056|ENST00000414242;ENST00000360754;ENST00000361479	.|T;T	.|0.80033	.|-1.33;0.01	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85102|0.85102	0.5620|0.5620	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.86760|0.86760	0.1966|0.1966	5|10	.|0.87932	.|D	.|0	.|.	19.746|19.746	0.96252|0.96252	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|800;800	.|Q99549;Q99549-2	.|MPP8_HUMAN;.	N|E	71|800;129;800	.|ENSP00000414663:G800E;ENSP00000355388:G800E	.|ENSP00000353982:G129E	D|G	+|+	1|2	0|0	MPHOSPH8|MPHOSPH8	19142445|19142445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.907000|8.907000	0.92634|0.92634	2.645000|2.645000	0.89757|0.89757	0.650000|0.650000	0.86243|0.86243	GAC|GGA	MPHOSPH8	-	NULL	ENSG00000196199		0.393	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0	60	0	G	NM_017520		20244445	1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	31.11	93	42	SNP	1.000	A	A	20244445	G	A	20244445	3	1	78	1	0	0	0	0	1	0	0	0	9765	1174	41	3	2445	3	MPHOSPH8	13	20244445	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		20244445	94925433	206	20574											
PAN3	255967	genome.wustl.edu	37	chr13	28834674	28834674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttccttcttcatggctGatgaactccgacaggtatgc	8	12	8	13	1	2	2	1	2	1	0	4	3	4	2	3	2	2	2	3	2	2	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:28834674G>T	ENST00000380958.3	+	8	1491	c.1339G>T	c.(1339-1341)Gat>Tat	p.D447Y	PAN3_ENST00000399613.1_Missense_Mutation_p.D247Y|PAN3_ENST00000282391.5_Missense_Mutation_p.D135Y	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTTCATGGCTGATGAACTCCG	0.408																																																	0													135	119	124					13																	28834674		2203	4300	6503	SO:0001583	missense	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1339G>T	13.37:g.28834674G>T	ENSP00000370345:p.Asp447Tyr			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.D447Y	ENST00000380958.3	37	c.1339	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787670	0.90367	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.06294	3.32;3.32;3.32	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.994;0.999;0.994;0.999	D;D;P;D	0.71870	0.975;0.952;0.878;0.952	T	0.00088	-1.2090	10	0.72032	D	0.01	-12.6048	19.8535	0.96748	0.0:0.0:1.0:0.0	.	447;447;135;393	Q58A45-4;Q58A45;Q58A45-2;Q58A45-3	.;PAN3_HUMAN;.;.	Y	447;247;135	ENSP00000370345:D447Y;ENSP00000382522:D247Y;ENSP00000282391:D135Y	ENSP00000282391:D135Y	D	+	1	0	PAN3	27732674	1.000000	0.71417	0.949000	0.38748	0.981000	0.71138	9.605000	0.98321	2.686000	0.91538	0.585000	0.79938	GAT	PAN3	-	NULL	ENSG00000152520		0.408	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	-	0	57	0	G	NM_175854		28834674	1	tier1	-	no_errors	ENST00000380958	ensembl	human	known	74_37	missense	33.33	29	15	SNP	1.000	T	T	28834674	G	T	28834674	3	4	78	1	0	0	0	0	1	0	0	0	11454	1290	45	3	1369	3	PAN3	13	28834674	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	8590229	28834674	86335204	207	20575											
FLT1	2321	genome.wustl.edu	37	chr13	28885780	28885780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgaaatactttccttGaagaagtcctcagagaaggc	13	9	11	8	0	1	4	1	2	0	2	3	6	3	5	2	2	2	1	2	2	5	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:28885780G>T	ENST00000282397.4	-	27	3833	c.3582C>A	c.(3580-3582)ttC>ttA	p.F1194L	FLT1_ENST00000543394.1_Missense_Mutation_p.F217L|FLT1_ENST00000540678.1_Missense_Mutation_p.F412L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1194					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACTTTCCTTGAAGAAGTCCT	0.373																																																	0													109	101	104					13																	28885780		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3582C>A	13.37:g.28885780G>T	ENSP00000282397:p.Phe1194Leu		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.F1194L	ENST00000282397.4	37	c.3582	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	3.928	-0.016654	0.07681	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.76186	-0.78;-0.98;-1.0	6.17	4.45	0.53987	.	0.261917	0.37483	N	0.002063	T	0.52597	0.1744	N	0.19112	0.55	0.80722	D	1	B	0.34015	0.435	B	0.27887	0.084	T	0.45818	-0.9235	10	0.25106	T	0.35	.	6.6211	0.22804	0.0646:0.2347:0.5773:0.1234	.	1194	P17948	VGFR1_HUMAN	L	1194;217;412	ENSP00000282397:F1194L;ENSP00000437841:F217L;ENSP00000443311:F412L	ENSP00000282397:F1194L	F	-	3	2	FLT1	27783780	1.000000	0.71417	1.000000	0.80357	0.322000	0.28314	2.509000	0.45459	0.936000	0.37367	-0.169000	0.13324	TTC	FLT1	-	NULL	ENSG00000102755		0.373	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0	79	0	G			28885780	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	28885780	G	T	28885780	3	4	78	1	0	0	0	0	1	0	0	0	5963	1281	45	3	450	3	FLT1	13	28885780	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	51106	28885780	86284098	208	20576											
CCDC122	160857	genome.wustl.edu	37	chr13	44442890	44442890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcttgtgattgttgttgCtttgcaactttctctacagc	6	18	9	8	0	1	1	0	1	1	0	2	2	1	1	0	0	6	5	0	0	2	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:44442890C>A	ENST00000444614.3	-	4	354	c.96G>T	c.(94-96)aaG>aaT	p.K32N	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Missense_Mutation_p.K32N	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	32										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATTGTTGTTGCTTTGCAACTT	0.284																																																	0													48	46	47					13																	44442890		2195	4281	6476	SO:0001583	missense	0			AK056408	CCDS9390.2	13q14.11	2008-10-30			ENSG00000151773	ENSG00000151773			26478	protein-coding gene	gene with protein product		613408					Standard	NM_144974		Approved	FLJ31846	uc010acf.3	Q5T0U0	OTTHUMG00000017413	ENST00000444614.3:c.96G>T	13.37:g.44442890C>A	ENSP00000407763:p.Lys32Asn		B2RP70|B7ZMI9|Q96MV0	Missense_Mutation	SNP	NULL	p.K32N	ENST00000444614.3	37	c.96	CCDS9390.2	13	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541692	0.65198	.	.	ENSG00000151773	ENST00000444614;ENST00000281508	T;T	0.42900	0.96;0.96	5.56	1.04	0.20106	.	0.313632	0.31041	N	0.008372	T	0.43500	0.1250	M	0.61703	1.905	0.30364	N	0.783497	P;P	0.44429	0.782;0.835	P;P	0.46172	0.506;0.453	T	0.50136	-0.8863	10	0.72032	D	0.01	-12.4512	9.6253	0.39746	0.0:0.7414:0.0:0.2586	.	32;32	B7ZMJ0;Q5T0U0	.;CC122_HUMAN	N	32	ENSP00000407763:K32N;ENSP00000281508:K32N	ENSP00000281508:K32N	K	-	3	2	CCDC122	43340890	0.937000	0.31787	0.999000	0.59377	0.977000	0.68977	-0.243000	0.08915	0.081000	0.16988	0.460000	0.39030	AAG	CCDC122	-	NULL	ENSG00000151773		0.284	CCDC122-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CCDC122	HGNC	protein_coding	OTTHUMT00000276172.4	-	0	29	0	C	NM_144974		44442890	-1	tier1	-	no_errors	ENST00000281508	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.999	A	A	44442890	C	A	44442890	3	1	78	1	0	0	0	0	1	0	0	0	2765	796	28	3	741	3	CCDC122	13	44442890	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	15557110	44442890	70726988	209	20577											
RB1	5925	genome.wustl.edu	37	chr13	48955538	48955538	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgataaaacatttagaaCgatgtgaacatcgaatcatg	19	10	7	5	2	1	3	1	2	0	1	2	5	1	3	0	0	3	0	0	0	7	3	rs121913303		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:48955538C>T	ENST00000267163.4	+	17	1792	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	552	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.R552*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACATTTAGAACGATGTGAACA	0.323	R552*(NCIH1048_LUNG)	6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(5)	bone(11)|breast(5)|eye(4)|central_nervous_system(3)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	GRCh37	CM961229	RB1	M	rs121913303						85	79	81					13																	48955538		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1654C>T	13.37:g.48955538C>T	ENSP00000267163:p.Arg552*		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R552*	ENST00000267163.4	37	c.1654	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	C	38	7.055045	0.98032	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.34	1.21	0.21127	.	0.199610	0.42548	D	0.000698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4955	0.38986	0.5195:0.4131:0.0:0.0674	.	.	.	.	X	531;552	.	ENSP00000267163:R552X	R	+	1	2	RB1	47853539	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	1.565000	0.36386	-0.113000	0.11958	0.650000	0.86243	CGA	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	-	0	58	0	C			48955538	1	tier1	rs121913303	no_errors	ENST00000267163	ensembl	human	known	74_37	nonsense	32.35	23	11	SNP	1.000	T	T	48955538	C	T	48955538	4	4	78	1	0	0	0	0	0	1	0	0	13143	528	19	1	1720	1	RB1	13	48955538	Nonsense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	4512648	48955538	66214340	210	20578											
PCDH9	5101	genome.wustl.edu	37	chr13	67799816	67799816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaggtgccgggccccaGtcaaatcttcctatactttg	7	12	11	11	1	2	0	1	0	1	0	3	1	3	1	4	3	2	1	4	3	3	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:67799816G>T	ENST00000377865.2	-	1	2891	c.2757C>A	c.(2755-2757)gaC>gaA	p.D919E	PCDH9_ENST00000544246.1_Missense_Mutation_p.D919E|PCDH9_ENST00000456367.1_Missense_Mutation_p.D919E|PCDH9_ENST00000328454.5_Missense_Mutation_p.D919E|PCDH9_ENST00000377861.3_Missense_Mutation_p.D919E			Q9HC56	PCDH9_HUMAN	protocadherin 9	919					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCGGGCCCCAGTCAAATCTTC	0.498																																																	0													109	108	108					13																	67799816		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2757C>A	13.37:g.67799816G>T	ENSP00000367096:p.Asp919Glu		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D919E	ENST00000377865.2	37	c.2757	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694186	0.30052	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52526	0.73;0.73;0.66;0.66;0.7	5.73	5.73	0.89815	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.48241	0.1489	L	0.29908	0.895	0.49483	D	0.999792	P;P;P;P	0.42161	0.772;0.772;0.73;0.772	P;P;P;P	0.49922	0.626;0.542;0.492;0.626	T	0.47649	-0.9101	10	0.62326	D	0.03	.	13.569	0.61834	0.0802:0.0:0.9198:0.0	.	919;919;919;919	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	E	919	ENSP00000442186:D919E;ENSP00000367096:D919E;ENSP00000401699:D919E;ENSP00000332060:D919E;ENSP00000367092:D919E	ENSP00000332060:D919E	D	-	3	2	PCDH9	66697817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.823000	0.39062	2.709000	0.92574	0.655000	0.94253	GAC	PCDH9	-	pfam_Protocadherin	ENSG00000184226		0.498	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	52	0	G	NM_203487		67799816	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	6.15	60	4	SNP	1.000	T	T	67799816	G	T	67799816	3	4	78	1	0	0	0	0	1	0	0	0	11557	1020	36	3	972	3	PCDH9	13	67799816	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	18844278	67799816	47370062	211	20579											
PCDH9	5101	genome.wustl.edu	37	chr13	67800403	67800403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcaatccggaataagcCtttattgtttccactcacta	11	14	6	10	1	2	0	2	0	0	0	4	2	4	2	3	2	1	1	3	2	5	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr13:67800403C>G	ENST00000377865.2	-	1	2304	c.2170G>C	c.(2170-2172)Ggc>Cgc	p.G724R	PCDH9_ENST00000544246.1_Missense_Mutation_p.G724R|PCDH9_ENST00000456367.1_Missense_Mutation_p.G724R|PCDH9_ENST00000328454.5_Missense_Mutation_p.G724R|PCDH9_ENST00000377861.3_Missense_Mutation_p.G724R			Q9HC56	PCDH9_HUMAN	protocadherin 9	724	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CGGAATAAGCCTTTATTGTTT	0.428																																																	0													143	141	141					13																	67800403		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2170G>C	13.37:g.67800403C>G	ENSP00000367096:p.Gly724Arg		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G724R	ENST00000377865.2	37	c.2170	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735236	0.69189	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.047923	0.85682	D	0.000000	T	0.58323	0.2114	L	0.41356	1.27	0.58432	D	0.999995	P;P;P;D	0.53462	0.919;0.879;0.951;0.96	P;P;P;P	0.58130	0.783;0.673;0.743;0.833	T	0.49652	-0.8917	10	0.35671	T	0.21	.	20.3409	0.98764	0.0:1.0:0.0:0.0	.	724;724;724;724	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	R	724	ENSP00000442186:G724R;ENSP00000367096:G724R;ENSP00000401699:G724R;ENSP00000332060:G724R;ENSP00000367092:G724R	ENSP00000332060:G724R	G	-	1	0	PCDH9	66698404	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.943000	0.63554	2.814000	0.96858	0.655000	0.94253	GGC	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.428	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0	113	0	C	NM_203487		67800403	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	36.90	53	31	SNP	1.000	G	G	67800403	C	G	67800403	3	3	78	1	0	0	0	0	1	0	0	0	11557	681	24	5	1559	5	PCDH9	13	67800403	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	587	67800403	47369475	212	20580											
OR4K17	390436	genome.wustl.edu	37	chr14	20586552	20586553	+	Frame_Shift_Ins	INS	-	-	A																															aagaaatgaagatatccatgINSaaaaaactctggagagcttt																										TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:20586552_20586553insA	ENST00000315543.4	+	1	987_988	c.987_988insA	c.(988-990)aaafs	p.K330fs		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATATCCATGAAAAAACTCTG	0.371																																																	0																																										SO:0001589	frameshift_variant	0				CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"GPCR / Class A : Olfactory receptors"	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.993dupA	14.37:g.20586558_20586558dupA	ENSP00000319197:p.Lys330fs		Q6IF12	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L331fs	ENST00000315543.4	37	c.987_988	CCDS32030.1	14																																																																																			OR4K17	-	NULL	ENSG00000176230		0.371	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K17	HGNC	protein_coding	OTTHUMT00000410346.1		0	37	0	-			20586553	1	tier1		no_errors	ENST00000315543	ensembl	human	known	74_37	frame_shift_ins	20.59	54	14	INS	0.986:0.979	A	A	20586553	-	A	20586552	7	5	78	1	0	1	1	0	0	0	0	0	11110	1290	45	0	989	0	OR4K17	14	20586552	Frame_Shift_Ins	INS	-	TCGA-L5-A893-01A-11D-A36J-09		20586552	86762988	213	20581											
AKAP6	9472	genome.wustl.edu	37	chr14	33291431	33291431	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttacattttatgattactCatacctccaaggctcaaaac	13	14	4	10	0	2	1	2	1	0	0	3	1	3	1	2	1	4	2	2	1	7	6	rs200742156	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:33291431C>A	ENST00000280979.4	+	13	4582	c.4412C>A	c.(4411-4413)tCa>tAa	p.S1471*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1471					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.S1471*(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TATGATTACTCATACCTCCAA	0.368																																					Melanoma(49;821 1200 7288 13647 42351)												1	Substitution - Nonsense(1)	large_intestine(1)											77	75	76					14																	33291431		2203	4300	6503	SO:0001587	stop_gained	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4412C>A	14.37:g.33291431C>A	ENSP00000280979:p.Ser1471*		A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S1471*	ENST00000280979.4	37	c.4412	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.819255	0.99272	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2933	17.3092	0.87204	0.0:1.0:0.0:0.0	.	.	.	.	X	1471	.	ENSP00000280979:S1471X	S	+	2	0	AKAP6	32361182	0.998000	0.40836	0.956000	0.39512	0.994000	0.84299	5.038000	0.64177	2.514000	0.84764	0.563000	0.77884	TCA	AKAP6	-	NULL	ENSG00000151320		0.368	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2		0	89	0	C	NM_004274		33291431	1			no_errors	ENST00000280979	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	0.994	A	A	33291431	C	A	33291431	4	1	78	1	0	0	0	0	0	1	0	0	455	838	29	3	4458	3	AKAP6	14	33291431	Nonsense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	12704879	33291431	74058109	214	20582											
RAD51L1	5890	genome.wustl.edu	37	chr14	68292187	68292187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgtttctttaggactttTtatgtctttccccactggag	6	20	7	8	0	2	0	0	0	2	0	3	2	3	2	2	2	0	1	2	2	3	8	rs114131734	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:68292187T>G	ENST00000487270.1	+	3	139	c.91T>G	c.(91-93)Tta>Gta	p.L31V	RAD51B_ENST00000488612.1_Missense_Mutation_p.L31V|RAD51B_ENST00000471583.1_Missense_Mutation_p.L31V|RAD51B_ENST00000487861.1_Missense_Mutation_p.L31V|RAD51B_ENST00000390683.3_Missense_Mutation_p.L31V	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	31	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TTAGGACTTTTTATGTCTTTC	0.383								Direct reversal of damage																																									0													118	113	115					14																	68292187		2203	4300	6503	SO:0001583	missense	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.91T>G	14.37:g.68292187T>G	ENSP00000419471:p.Leu31Val		O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L31V	ENST00000487270.1	37	c.91	CCDS9789.1	14	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429171	0.62844	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.68181	0.94;0.94;0.94;0.94;0.94;-0.31;0.94	5.34	0.438	0.16560	.	0.000000	0.56097	D	0.000035	T	0.60753	0.2293	N	0.20986	0.625	0.34325	D	0.687016	D;D;D;D;D;P	0.89917	1.0;1.0;1.0;1.0;1.0;0.924	D;D;D;D;D;P	0.85130	0.992;0.989;0.997;0.973;0.997;0.747	T	0.62656	-0.6808	10	0.06365	T	0.9	-1.3214	7.8995	0.29725	0.0:0.3568:0.0:0.6432	.	31;31;31;31;31;31	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	V	31	ENSP00000419881:L31V;ENSP00000418859:L31V;ENSP00000419471:L31V;ENSP00000420061:L31V;ENSP00000417948:L31V;ENSP00000452044:L31V;ENSP00000375101:L31V	ENSP00000343531:L31V	L	+	1	2	RAD51B	67361940	0.959000	0.32827	0.992000	0.48379	0.983000	0.72400	-0.056000	0.11787	-0.007000	0.14345	-0.263000	0.10527	TTA	RAD51B	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like	ENSG00000182185		0.383	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	-	0	55	0	T			68292187	1	tier1	-	no_errors	ENST00000487270	ensembl	human	known	74_37	missense	22.95	47	14	SNP	0.999	G	G	68292187	T	G	68292187	3	3	78	1	0	0	0	0	1	0	0	0	13034	1838	64	4	97	4	RAD51L1	14	68292187	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	35000756	68292187	39057353	215	20583											
VASH1	22846	genome.wustl.edu	37	chr14	77242338	77242338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgggggtgaacttcGcgggccgctacggtgcgctg	3	9	18	11	6	0	1	0	1	0	0	2	1	0	1	1	4	4	3	1	4	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:77242338G>A	ENST00000167106.4	+	5	1267	c.634G>A	c.(634-636)Gcg>Acg	p.A212T	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000554743.1_5'Flank	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	212					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GGTGAACTTCGCGGGCCGCTA	0.642																																																	0													26	23	24					14																	77242338		2203	4300	6503	SO:0001583	missense	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"KIAA1036"	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.634G>A	14.37:g.77242338G>A	ENSP00000167106:p.Ala212Thr		Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	NULL	p.A212T	ENST00000167106.4	37	c.634	CCDS9851.1	14	.	.	.	.	.	.	.	.	.	.	G	5.959	0.360876	0.11296	.	.	ENSG00000071246	ENST00000167106	.	.	.	5.22	4.33	0.51752	.	0.144785	0.64402	D	0.000007	T	0.25306	0.0615	N	0.02539	-0.55	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.05068	-1.0908	9	0.31617	T	0.26	-10.366	8.8608	0.35256	0.0745:0.0:0.7751:0.1504	.	212	Q7L8A9	VASH1_HUMAN	T	212	.	ENSP00000167106:A212T	A	+	1	0	VASH1	76312091	1.000000	0.71417	0.999000	0.59377	0.375000	0.29983	8.005000	0.88553	1.207000	0.43291	-0.127000	0.14921	GCG	VASH1	-	NULL	ENSG00000071246		0.642	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	-	0	83	0	G	NM_014909		77242338	1	tier1	-	no_errors	ENST00000167106	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	A	A	77242338	G	A	77242338	3	1	78	1	0	0	0	0	1	0	0	0	17174	1087	38	1	652	1	VASH1	14	77242338	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	8950151	77242338	30107202	216	20584											
C14orf156	81892	genome.wustl.edu	37	chr14	78174465	78174465	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctgaagatggcggcctCagcagcgagaggtgctgcgg	8	7	17	9	3	2	3	1	1	1	2	2	4	2	3	1	4	4	2	1	4	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:78174465C>A	ENST00000557342.1	+	1	52	c.11C>A	c.(10-12)tCa>tAa	p.S4*	SLIRP_ENST00000557623.1_Nonsense_Mutation_p.S4*|ALKBH1_ENST00000216489.3_5'Flank|SLIRP_ENST00000557431.1_Nonsense_Mutation_p.S4*|SLIRP_ENST00000238688.5_Nonsense_Mutation_p.S4*	NM_001267864.1|NM_031210.5	NP_001254793.1|NP_112487.1	Q9GZT3	SLIRP_HUMAN	SRA stem-loop interacting RNA binding protein	4					mitochondrion morphogenesis (GO:0070584)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	acrosomal vesicle (GO:0001669)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|sperm flagellum (GO:0036126)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			kidney(1)|prostate(1)	2						ATGGCGGCCTCAGCAGCGAGA	0.562																																																	0													58	59	59					14																	78174465		2203	4300	6503	SO:0001587	stop_gained	0			AF253980	CCDS9866.1, CCDS58331.1, CCDS73668.1	14q24.3	2013-02-12	2011-06-17	2011-06-17	ENSG00000119705	ENSG00000119705		"RNA binding motif (RRM) containing"	20495	protein-coding gene	gene with protein product		610211	"chromosome 14 open reading frame 156"	C14orf156		16762838	Standard	NM_031210		Approved	DC50	uc001xue.5	Q9GZT3		ENST00000557342.1:c.11C>A	14.37:g.78174465C>A	ENSP00000450909:p.Ser4*		J3KMY7	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S4*	ENST00000557342.1	37	c.11	CCDS9866.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.515730|4.515730	0.85495|0.85495	.|.	.|.	ENSG00000119705|ENSG00000119705	ENST00000556831|ENST00000557342;ENST00000238688;ENST00000557623;ENST00000557431	.|.	.|.	.|.	5.17|5.17	1.33|1.33	0.21861|0.21861	.|.	.|0.545093	.|0.17054	.|N	.|0.188830	T|.	0.16041|.	0.0386|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37619|.	-0.9698|.	3|.	.|0.02654	.|T	.|1	-1.0258|-1.0258	7.5391|7.5391	0.27727|0.27727	0.0:0.6919:0.0:0.3081|0.0:0.6919:0.0:0.3081	.|.	.|.	.|.	.|.	K|X	2|4	.|.	.|ENSP00000238688:S4X	Q|S	+|+	1|2	0|0	SLIRP|SLIRP	77244218|77244218	0.001000|0.001000	0.12720|0.12720	0.057000|0.057000	0.19452|0.19452	0.011000|0.011000	0.07611|0.07611	0.753000|0.753000	0.26376|0.26376	0.309000|0.309000	0.22966|0.22966	-1.128000|-1.128000	0.01989|0.01989	CAG|TCA	SLIRP	-	NULL	ENSG00000119705		0.562	SLIRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLIRP	HGNC	protein_coding	OTTHUMT00000413901.1		0	63	0	C	NM_031210		78174465	1			no_errors	ENST00000557342	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.004	A	A	78174465	C	A	78174465	4	1	78	1	0	0	0	0	0	1	0	0	1759	838	29	3	13	3	C14orf156	14	78174465	Nonsense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	932127	78174465	29175075	217	20585											
MARK3	4140	genome.wustl.edu	37	chr14	103932743	103932743	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaactcaaaccatttgttGaaccagagctagacatctca	15	10	6	10	0	2	4	2	2	1	2	3	4	2	4	2	0	4	2	2	0	4	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr14:103932743G>T	ENST00000429436.2	+	10	1471	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	MARK3_ENST00000553942.1_Nonsense_Mutation_p.E321*|MARK3_ENST00000303622.9_Nonsense_Mutation_p.E321*|MARK3_ENST00000335102.5_Nonsense_Mutation_p.E344*|MARK3_ENST00000216288.7_Nonsense_Mutation_p.E321*|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Nonsense_Mutation_p.E344*|MARK3_ENST00000440884.3_Nonsense_Mutation_p.E242*	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	321						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			ACCATTTGTTGAACCAGAGCT	0.373																																																	0													106	95	99					14																	103932743		1910	4132	6042	SO:0001587	stop_gained	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.961G>T	14.37:g.103932743G>T	ENSP00000411397:p.Glu321*		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E321*	ENST00000429436.2	37	c.961	CCDS45165.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.439850|10.439850	0.99405|0.99405	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942|ENST00000554627	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.79793	.|0.4507	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77816	.|-0.2447	.|3	0.66056|.	D|.	0.02|.	.|.	19.8215|19.8215	0.96599|0.96599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|F	344;242;344;321;321;321;321|88	.|.	ENSP00000216288:E321X|.	E|L	+|+	1|3	0|2	MARK3|MARK3	103002496|103002496	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.872000|0.872000	0.50106|0.50106	9.591000|9.591000	0.98241|0.98241	2.679000|2.679000	0.91253|0.91253	0.650000|0.650000	0.86243|0.86243	GAA|TTG	MARK3	-	superfamily_Kinase-like_dom	ENSG00000075413		0.373	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1	-	0	43	0	G	NM_001128918		103932743	1	tier1	-	no_errors	ENST00000429436	ensembl	human	known	74_37	nonsense	21.88	25	7	SNP	1.000	T	T	103932743	G	T	103932743	4	4	78	1	0	0	0	0	0	1	0	0	9352	1291	45	3	999	3	MARK3	14	103932743	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	25758278	103932743	3416797	218	20586											
TRPM1	4308	genome.wustl.edu	37	chr15	31354881	31354881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatggtaactagaagctgCtccctgagggactcatttat	11	12	10	8	0	1	3	1	2	0	1	2	4	2	4	1	2	3	3	1	2	5	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:31354881C>A	ENST00000256552.6	-	9	1137	c.990G>T	c.(988-990)gaG>gaT	p.E330D	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.E308D|TRPM1_ENST00000542188.1_Missense_Mutation_p.E347D	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.E308D(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTAGAAGCTGCTCCCTGAGGG	0.343																																																	1	Substitution - Missense(1)	lung(1)											106	94	98					15																	31354881		1813	4080	5893	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.990G>T	15.37:g.31354881C>A	ENSP00000256552:p.Glu330Asp			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E347D	ENST00000256552.6	37	c.1041	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	3.071	-0.191051	0.06299	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.61158	0.13;0.13;0.13	5.72	-4.79	0.03200	.	0.043135	0.85682	N	0.000000	T	0.25568	0.0622	N	0.05487	-0.04	0.26829	N	0.968624	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.33904	-0.9850	10	0.02654	T	1	-28.951	11.6975	0.51553	0.3451:0.1139:0.5409:0.0	.	302;308	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	D	308;347;330;308	ENSP00000380897:E308D;ENSP00000437849:E347D;ENSP00000256552:E330D	ENSP00000256552:E330D	E	-	3	2	TRPM1	29142173	0.933000	0.31639	0.897000	0.35233	0.943000	0.58893	0.016000	0.13377	-1.263000	0.02455	-0.274000	0.10170	GAG	TRPM1	-	NULL	ENSG00000134160		0.343	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2		0	36	0	C	NM_002420		31354881	-1			no_errors	ENST00000542188	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.659	A	A	31354881	C	A	31354881	3	1	78	1	0	0	0	0	1	0	0	0	16633	796	28	3	3967	3	TRPM1	15	31354881	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09		31354881	71176511	219	20587											
CHRM5	1133	genome.wustl.edu	37	chr15	34356456	34356456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatgctgcttctctgccGatggaaaaagaaaaaagtgg	15	9	11	6	1	1	2	0	0	1	2	2	4	1	3	1	2	3	2	1	2	6	2	rs367778274		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:34356456G>T	ENST00000383263.5	+	3	2208	c.1538G>T	c.(1537-1539)cGa>cTa	p.R513L	CHRM5_ENST00000557872.1_Missense_Mutation_p.R513L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	513					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTCTCTGCCGATGGAAAAAG	0.463																																																	0													70	76	74					15																	34356456		2201	4298	6499	SO:0001583	missense	0				CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1954	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 5"	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1538G>T	15.37:g.34356456G>T	ENSP00000372750:p.Arg513Leu		Q96RG7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.R513L	ENST00000383263.5	37	c.1538	CCDS10031.1	15	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203444	0.38905	.	.	ENSG00000184984	ENST00000383263	T	0.37235	1.21	5.45	3.6	0.41247	.	0.199984	0.45126	D	0.000397	T	0.30916	0.0780	L	0.43923	1.385	0.44194	D	0.997015	B	0.25048	0.117	B	0.29716	0.106	T	0.13335	-1.0513	10	0.72032	D	0.01	-2.9328	8.396	0.32557	0.2857:0.0:0.7142:0.0	.	513	P08912	ACM5_HUMAN	L	513	ENSP00000372750:R513L	ENSP00000372750:R513L	R	+	2	0	CHRM5	32143748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.201000	0.42734	0.875000	0.35847	0.650000	0.86243	CGA	CHRM5	-	NULL	ENSG00000184984		0.463	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM5	HGNC	protein_coding	OTTHUMT00000251521.2	-	0	49	0	G			34356456	1	tier1	-	no_errors	ENST00000383263	ensembl	human	known	74_37	missense	44.00	14	11	SNP	1.000	T	T	34356456	G	T	34356456	3	4	78	1	0	0	0	0	1	0	0	0	3387	1058	37	2	1540	2	CHRM5	15	34356456	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3001575	34356456	68174936	220	20588											
DUOX1	53905	genome.wustl.edu	37	chr15	45444498	45444498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagactacgcctttgccGcacatcacacgggcatcaca	11	6	7	17	3	2	1	2	0	0	1	2	1	2	1	3	1	2	2	3	1	1	2	rs370420245		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:45444498G>A	ENST00000321429.4	+	26	3615	c.3208G>A	c.(3208-3210)Gca>Aca	p.A1070T	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.A1070T|DUOX1_ENST00000561166.1_Missense_Mutation_p.A716T	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1070	Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGCCTTTGCCGCACATCACAC	0.627																																																	0													110	82	91					15																	45444498		2197	4298	6495	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3208G>A	15.37:g.45444498G>A	ENSP00000317997:p.Ala1070Thr		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.A1070T	ENST00000321429.4	37	c.3208	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964810	0.53507	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.86097	-2.07;-2.07	3.92	3.92	0.45320	.	0.106321	0.64402	D	0.000004	D	0.84848	0.5563	L	0.50333	1.59	0.58432	D	0.999999	D;P	0.61080	0.989;0.718	P;B	0.55011	0.766;0.222	T	0.81881	-0.0729	10	0.27785	T	0.31	-7.9239	9.0997	0.36660	0.0:0.0:0.7813:0.2187	.	203;1070	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	T	1070	ENSP00000317997:A1070T;ENSP00000373689:A1070T	ENSP00000317997:A1070T	A	+	1	0	DUOX1	43231790	1.000000	0.71417	0.715000	0.30552	0.777000	0.43975	4.039000	0.57325	2.143000	0.66587	0.650000	0.86243	GCA	DUOX1	-	NULL	ENSG00000137857		0.627	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1		0	25	0	G	NM_017434		45444498	1			no_errors	ENST00000321429	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.992	A	A	45444498	G	A	45444498	3	1	78	1	0	0	0	0	1	0	0	0	4814	1087	38	1	3302	1	DUOX1	15	45444498	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11088042	45444498	57086894	221	20589											
SLC12A1	6557	genome.wustl.edu	37	chr15	48548097	48548097	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtggaagaccacgtaAaaaacttcaggtaaagctgg	16	6	10	9	1	1	1	1	0	0	1	1	2	1	2	2	3	2	3	2	3	6	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:48548097A>C	ENST00000558405.1	+	15	2046	c.2032A>C	c.(2032-2034)Aaa>Caa	p.K678Q	SLC12A1_ENST00000396577.3_Missense_Mutation_p.K678Q|SLC12A1_ENST00000380993.3_Missense_Mutation_p.K678Q			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	678					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGACCACGTAAAAAACTTCAG	0.453																																																	0													63	53	56					15																	48548097		2198	4297	6495	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2032A>C	15.37:g.48548097A>C	ENSP00000453409:p.Lys678Gln		A8JYA2|E9PDW4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.K678Q	ENST00000558405.1	37	c.2032	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908737	0.92107	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000546071	D;D	0.99176	-5.52;-5.52	6.06	6.06	0.98353	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97660	1.0160	10	0.87932	D	0	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	678;678	E9PDW4;Q13621	.;S12A1_HUMAN	Q	491;678;678;72	ENSP00000370381:K678Q;ENSP00000379822:K678Q	ENSP00000370381:K678Q	K	+	1	0	SLC12A1	46335389	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.287000	0.95975	2.324000	0.78689	0.533000	0.62120	AAA	SLC12A1	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.453	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1	-	0	81	0	A			48548097	1	tier1	-	no_errors	ENST00000380993	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	C	C	48548097	A	C	48548097	3	2	78	1	0	0	0	0	1	0	0	0	14427	15	1	4	2190	4	SLC12A1	15	48548097	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	3103599	48548097	53983295	222	20590											
TLN2	83660	genome.wustl.edu	37	chr15	63014551	63014551	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttttcatctctctataGcctggaagcaagatggtgtc	8	16	8	9	0	4	1	1	0	3	1	6	2	4	2	1	2	2	1	1	2	4	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:63014551G>T	ENST00000561311.1	+	25	3221		c.e25-1		TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCTCTCTATAGCCTGGAAGCA	0.547																																																	0													41	39	40					15																	63014551		2203	4300	6503	SO:0001630	splice_region_variant	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2992-1G>T	15.37:g.63014551G>T			A6NLB8	Splice_Site	SNP	-	e23-1	ENST00000561311.1	37	c.2992-1	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	26.1	4.709107	0.89018	.	.	ENSG00000171914	ENST00000306829	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4599	0.94912	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TLN2	60801843	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	9.750000	0.98875	2.671000	0.90904	0.563000	0.77884	.	TLN2	-	-	ENSG00000171914		0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2		0	19	0	G		Intron	63014551	1			no_errors	ENST00000306829	ensembl	human	known	74_37	splice_site	15.38	22	4	SNP	1.000	T	T	63014551	G	T	63014551	5	4	78	1	0	0	0	0	0	0	1	0	15995	985	34	3	3081	3	TLN2	15	63014551	Splice_Site	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	14466454	63014551	39516841	223	20591											
MAP2K1	5604	genome.wustl.edu	37	chr15	66779570	66779570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttataaaatttgtagcataCggaatggacagccgacctcc	13	11	8	9	2	0	0	0	0	0	0	1	3	1	2	3	2	3	2	3	2	6	6	rs147333830		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:66779570C>T	ENST00000307102.5	+	8	1431	c.900C>T	c.(898-900)taC>taT	p.Y300Y	MAP2K1_ENST00000566326.1_Silent_p.Y124Y|CTD-3185P2.2_ENST00000602360.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	300	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|RAF1-binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	TTGTAGCATACGGAATGGACA	0.413																																																	0								C		2,4400	4.2+/-10.8	0,2,2199	112	106	108		900	1	1	15	dbSNP_134	108	0,8598		0,0,4299	no	coding-synonymous	MAP2K1	NM_002755.3		0,2,6498	TT,TC,CC		0.0,0.0454,0.0154		300/394	66779570	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	0			L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.900C>T	15.37:g.66779570C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y300	ENST00000307102.5	37	c.900	CCDS10216.1	15																																																																																			MAP2K1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000169032		0.413	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K1	HGNC	protein_coding	OTTHUMT00000256906.4	-	0	49	0	C			66779570	1	tier1	rs147333830	no_errors	ENST00000307102	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.996	T	T	66779570	C	T	66779570	2	4	78	1	0	0	0	0	0	0	0	1	9274	547	19	1		1	MAP2K1	15	66779570	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3765019	66779570	35751822	224	20592											
RASGRF1	5923	genome.wustl.edu	37	chr15	79320164	79320164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatggccaggtttttccGgatgttctccgtctcactta	5	15	9	12	3	2	0	1	0	2	0	6	2	3	1	3	3	0	2	3	3	1	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:79320164G>A	ENST00000419573.3	-	9	1574	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R434W	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	434					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGTTTTTCCGGATGTTCTCC	0.547																																																	0													245	197	214					15																	79320164		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1300C>T	15.37:g.79320164G>A	ENSP00000405963:p.Arg434Trp		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R434W	ENST00000419573.3	37	c.1300	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181884	0.78677	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.32988	1.43	4.09	4.09	0.47781	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.81942	2.565	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.746;1.0	D;D;B;D	0.91635	0.999;0.999;0.176;0.999	T	0.63673	-0.6584	10	0.72032	D	0.01	.	13.9228	0.63942	0.0:0.0:1.0:0.0	.	434;434;434;434	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	W	434	ENSP00000405963:R434W	ENSP00000378224:R434W	R	-	1	2	RASGRF1	77107219	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.446000	0.44908	2.118000	0.64928	0.479000	0.44913	CGG	RASGRF1	-	superfamily_DH-domain	ENSG00000058335		0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	69	0	G	NM_002891		79320164	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	A	A	79320164	G	A	79320164	3	1	78	1	0	0	0	0	1	0	0	0	13117	1115	39	1	2601	1	RASGRF1	15	79320164	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	12540594	79320164	23211228	225	20593											
ACAN	176	genome.wustl.edu	37	chr15	89398756	89398756	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgggcttccttctggagaAgttctagagaccactgcccc	8	10	11	12	0	2	2	0	0	2	2	3	4	3	2	4	2	1	2	4	2	2	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:89398756A>C	ENST00000561243.1	+	11	2940	c.2940A>C	c.(2938-2940)gaA>gaC	p.E980D	ACAN_ENST00000439576.2_Missense_Mutation_p.E980D|ACAN_ENST00000352105.7_Missense_Mutation_p.E980D|ACAN_ENST00000559004.1_Missense_Mutation_p.E980D			P16112	PGCA_HUMAN	aggrecan	979	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCTGGAGAAGTTCTAGAGA	0.562																																																	0													117	118	117					15																	89398756		1814	4081	5895	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2940A>C	15.37:g.89398756A>C	ENSP00000453342:p.Glu980Asp		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.E980D	ENST00000561243.1	37	c.2940	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326725	0.24080	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.97688	-4.49;-4.49	3.93	1.42	0.22433	.	.	.	.	.	D	0.96451	0.8842	M	0.71036	2.16	0.09310	N	1	P;P	0.42248	0.774;0.774	P;P	0.49047	0.497;0.599	D	0.89622	0.3849	9	0.13853	T	0.58	0.6581	4.3255	0.11038	0.5846:0.2208:0.0:0.1946	.	980;980	E7ENV9;E7EX88	.;.	D	980	ENSP00000387356:E980D;ENSP00000341615:E980D	ENSP00000268134:E980D	E	+	3	2	ACAN	87199760	.	.	0.586000	0.28679	0.582000	0.36321	.	.	0.169000	0.19679	0.410000	0.27636	GAA	ACAN	-	NULL	ENSG00000157766		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0	65	0	A	NM_001135		89398756	1	tier1	-	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.222	C	C	89398756	A	C	89398756	3	2	78	1	0	0	0	0	1	0	0	0	117	69	3	4	2982	4	ACAN	15	89398756	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	10078592	89398756	13132636	226	20594											
TTC23	64927	genome.wustl.edu	37	chr15	99768821	99768821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaatagtgctgtctgaaGcagcttgttttggaacttct	8	15	11	7	0	2	1	0	1	2	0	2	3	2	3	0	2	4	4	0	2	4	5	rs369672506		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr15:99768821G>T	ENST00000394132.2	-	5	914	c.97C>A	c.(97-99)Ctt>Att	p.L33I	TTC23_ENST00000262074.4_Missense_Mutation_p.L33I|TTC23_ENST00000394136.1_Missense_Mutation_p.L33I|TTC23_ENST00000394135.3_Missense_Mutation_p.L33I|TTC23_ENST00000394130.1_Missense_Mutation_p.L33I|TTC23_ENST00000558663.1_Missense_Mutation_p.L33I|TTC23_ENST00000394129.2_Missense_Mutation_p.L33I|TTC23_ENST00000558613.1_Missense_Mutation_p.L33I			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	33										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GCTGTCTGAAGCAGCTTGTTT	0.428																																																	0								G	ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU,ILE/LEU	1,4393	2.1+/-5.4	0,1,2196	144	142	143		97,97,97,97,97,97,97	4	0.9	15		143	0,8594		0,0,4297	no	missense,missense,missense,missense,missense,missense,missense	TTC23	NM_001040655.1,NM_001040656.1,NM_001040657.1,NM_001040658.1,NM_001040659.1,NM_001040660.1,NM_022905.4	5,5,5,5,5,5,5	0,1,6493	TT,TG,GG		0.0,0.0228,0.0077	benign,benign,benign,benign,benign,benign,benign	33/448,33/448,33/448,33/448,33/448,33/448,33/448	99768821	1,12987	2197	4297	6494	SO:0001583	missense	0				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.97C>A	15.37:g.99768821G>T	ENSP00000377690:p.Leu33Ile		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	smart_TPR_repeat	p.L33I	ENST00000394132.2	37	c.97	CCDS10379.2	15	.	.	.	.	.	.	.	.	.	.	G	4.385	0.071051	0.08436	2.28E-4	0.0	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.87	3.97	0.46021	.	0.660393	0.15676	N	0.250114	T	0.32436	0.0829	L	0.36672	1.1	0.22142	N	0.999336	B;B	0.21905	0.062;0.037	B;B	0.21917	0.037;0.017	T	0.18335	-1.0340	10	0.16896	T	0.51	-1.4539	12.1971	0.54303	0.0:0.0:0.6912:0.3088	.	33;33	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	I	33	ENSP00000377690:L33I;ENSP00000377693:L33I;ENSP00000262074:L33I;ENSP00000377692:L33I;ENSP00000377688:L33I;ENSP00000457901:L33I	ENSP00000262074:L33I	L	-	1	0	TTC23	97586344	0.960000	0.32886	0.869000	0.34112	0.048000	0.14542	1.174000	0.31932	0.895000	0.36342	0.655000	0.94253	CTT	TTC23	-	NULL	ENSG00000103852		0.428	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23	HGNC	protein_coding	OTTHUMT00000303953.2	-	0	55	0	G	NM_022905		99768821	-1	tier1	-	no_errors	ENST00000262074	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.851	T	T	99768821	G	T	99768821	3	4	78	1	0	0	0	0	1	0	0	0	16739	971	34	3	1286	3	TTC23	15	99768821	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10370065	99768821	2762571	227	20595											
COG7	91949	genome.wustl.edu	37	chr16	23400367	23400367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctggagggtgcgggaCggctgcaggcccagggcatc	6	6	19	10	2	0	0	0	0	0	0	1	2	0	2	1	6	3	4	1	6	0	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:23400367C>T	ENST00000307149.5	-	17	2372	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P	COG7_ENST00000569635.1_5'Flank	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	729					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.P729P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GGGTGCGGGACGGCTGCAGGC	0.622																																																	1	Substitution - coding silent(1)	endometrium(1)											73	59	64					16																	23400367		2197	4300	6497	SO:0001819	synonymous_variant	0			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.2187G>A	16.37:g.23400367C>T			Q6UWU7	Silent	SNP	pfam_COG7	p.P729	ENST00000307149.5	37	c.2187	CCDS10610.1	16																																																																																			COG7	-	pfam_COG7	ENSG00000168434		0.622	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1	-	0	53	0	C			23400367	-1	tier1	-	no_errors	ENST00000307149	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.027	T	T	23400367	C	T	23400367	2	4	78	1	0	0	0	0	0	0	0	1	3670	523	19	1		1	COG7	16	23400367	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09		23400367	66954386	228	20596											
XPO6	23214	genome.wustl.edu	37	chr16	28117395	28117395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggatacacttgctccatgCacagggcgatgatgctgggg	8	9	15	9	1	0	1	0	1	0	0	1	3	1	2	1	4	4	3	1	4	1	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:28117395C>T	ENST00000304658.5	-	20	3253	c.2753G>A	c.(2752-2754)tGc>tAc	p.C918Y	XPO6_ENST00000565698.1_Missense_Mutation_p.C904Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	918					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTGCTCCATGCACAGGGCGAT	0.592																																																	0													113	122	119					16																	28117395		2058	4203	6261	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2753G>A	16.37:g.28117395C>T	ENSP00000302790:p.Cys918Tyr		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.C918Y	ENST00000304658.5	37	c.2753	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041841	0.93685	.	.	ENSG00000169180	ENST00000304658	T	0.66280	-0.2	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.042623	0.85682	D	0.000000	T	0.76593	0.4009	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.999;0.996	D;P	0.69142	0.962;0.862	T	0.75863	-0.3167	10	0.51188	T	0.08	-10.6293	17.5557	0.87889	0.0:1.0:0.0:0.0	.	918;918	B7ZM10;Q96QU8	.;XPO6_HUMAN	Y	918	ENSP00000302790:C918Y	ENSP00000302790:C918Y	C	-	2	0	XPO6	28024896	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.776000	0.85560	2.826000	0.97356	0.561000	0.74099	TGC	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.592	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	-	0	63	0	C	XM_055195		28117395	-1	tier1	-	no_errors	ENST00000304658	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	28117395	C	T	28117395	3	4	78	1	0	0	0	0	1	0	0	0	17497	710	25	3	644	3	XPO6	16	28117395	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	4717028	28117395	62237358	229	20597											
C16orf58	64755	genome.wustl.edu	37	chr16	31519197	31519197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggagaggctggaagcaaaCgcctggagaagaaaacaagt	16	3	14	8	2	0	3	0	0	0	3	0	6	0	4	2	4	3	2	2	4	6	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:31519197C>T	ENST00000327237.2	-	2	342	c.303G>A	c.(301-303)gcG>gcA	p.A101A	C16orf58_ENST00000430477.2_Intron|C16orf58_ENST00000570164.1_Silent_p.A101A|C16orf58_ENST00000567994.1_Silent_p.A56A|RP11-452L6.7_ENST00000569782.1_RNA			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	101						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TGGAAGCAAACGCCTGGAGAA	0.572																																																	0													24	21	22					16																	31519197		2170	4259	6429	SO:0001819	synonymous_variant	0			AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.303G>A	16.37:g.31519197C>T			Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Silent	SNP	pfam_RUS2/WXR1	p.A101	ENST00000327237.2	37	c.303	CCDS10715.1	16																																																																																			C16orf58	-	pfam_RUS2/WXR1	ENSG00000140688		0.572	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf58	HGNC	protein_coding	OTTHUMT00000255629.2		0	69	0	C	NM_022744		31519197	-1			no_errors	ENST00000327237	ensembl	human	known	74_37	silent	7.27	50	4	SNP	0.984	T	T	31519197	C	T	31519197	2	4	78	1	0	0	0	0	0	0	0	1	1827	523	19	1		1	C16orf58	16	31519197	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3401802	31519197	58835556	230	20598											
GPR56	9289	genome.wustl.edu	37	chr16	57685510	57685510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagcctgcccagtgccGccagcttcaccttctccttc	6	10	6	19	1	3	0	2	0	1	0	5	0	3	0	6	0	4	1	6	0	0	3	rs199910467		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:57685510G>A	ENST00000388812.4	+	3	903	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	GPR56_ENST00000456916.1_Missense_Mutation_p.A155T|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000540164.2_Missense_Mutation_p.A155T|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.A155T|GPR56_ENST00000568908.1_Missense_Mutation_p.A155T|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000538815.1_Missense_Mutation_p.A155T|GPR56_ENST00000388813.5_Missense_Mutation_p.A155T|GPR56_ENST00000562631.1_Missense_Mutation_p.A155T|GPR56_ENST00000567835.1_Missense_Mutation_p.A155T|GPR56_ENST00000562558.1_Missense_Mutation_p.A155T|GPR56_ENST00000568909.1_Missense_Mutation_p.A155T			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	155					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GCCCAGTGCCGCCAGCTTCAC	0.602																																																	0													29	30	30					16																	57685510		2198	4300	6498	SO:0001583	missense	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.463G>A	16.37:g.57685510G>A	ENSP00000373464:p.Ala155Thr		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A155T	ENST00000388812.4	37	c.463	CCDS32460.1	16	.	.	.	.	.	.	.	.	.	.	G	0.613	-0.824423	0.02755	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.21	-10.4	0.00318	.	0.935269	0.08946	N	0.870815	T	0.27594	0.0678	L	0.54323	1.7	0.19300	N	0.999979	B;B;B	0.25667	0.017;0.131;0.08	B;B;B	0.18871	0.005;0.023;0.01	T	0.06789	-1.0807	10	0.42905	T	0.14	.	6.0264	0.19658	0.0629:0.1972:0.2396:0.5002	.	160;155;155	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	T	155	ENSP00000373465:A155T;ENSP00000373464:A155T;ENSP00000444415:A155T;ENSP00000398034:A155T;ENSP00000444911:A155T;ENSP00000369018:A155T	ENSP00000369018:A155T	A	+	1	0	GPR56	56243011	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.687000	0.01927	-3.253000	0.00204	-2.547000	0.00178	GCC	GPR56	-	NULL	ENSG00000205336		0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3		0	28	0	G			57685510	1			no_errors	ENST00000379696	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	A	A	57685510	G	A	57685510	3	1	78	1	0	0	0	0	1	0	0	0	6726	1087	38	1	484	1	GPR56	16	57685510	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	26166313	57685510	32669243	231	20599											
EDC4	23644	genome.wustl.edu	37	chr16	67911221	67911221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggctgatctggctttcGcgcacctcaactctccacag	6	11	10	14	2	3	1	1	1	2	0	5	1	3	1	2	2	1	3	2	2	1	1	rs375074441		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:67911221G>A	ENST00000358933.5	+	5	792	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	185					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTGGCTTTCGCGCACCTCAA	0.572																																																	0								G	THR/ALA	0,4396		0,0,2198	106	94	98		553	5.7	1	16		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	58	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	185/1402	67911221	1,12995	2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.553G>A	16.37:g.67911221G>A	ENSP00000351811:p.Ala185Thr		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A185T	ENST00000358933.5	37	c.553	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125686	0.77436	0.0	1.16E-4	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.06371	3.31	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.972	T	0.00256	-1.1873	10	0.49607	T	0.09	-10.7178	19.4549	0.94884	0.0:0.0:1.0:0.0	.	117;185	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	T	185;117	ENSP00000351811:A185T	ENSP00000351811:A185T	A	+	1	0	EDC4	66468722	1.000000	0.71417	0.994000	0.49952	0.237000	0.25408	9.869000	0.99810	2.710000	0.92621	0.655000	0.94253	GCG	EDC4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000038358		0.572	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2		0	46	0	G	NM_014329		67911221	1			no_errors	ENST00000358933	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	67911221	G	A	67911221	3	1	78	1	0	0	0	0	1	0	0	0	4922	1087	38	1	571	1	EDC4	16	67911221	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10225711	67911221	22443532	232	20600											
ZFHX3	463	genome.wustl.edu	37	chr16	72992173	72992173	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaagctcgcagagggaGccagcgtgctggtgatgggg	8	5	17	11	2	0	2	0	1	0	1	1	3	0	3	3	4	4	3	3	4	1	0	rs148573491	byFrequency	TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:72992173G>T	ENST00000268489.5	-	2	2544	c.1872C>A	c.(1870-1872)ggC>ggA	p.G624G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	624					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCAGAGGGAGCCAGCGTGCT	0.632																																																	0													69	63	65					16																	72992173		2198	4300	6498	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1872C>A	16.37:g.72992173G>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.G624	ENST00000268489.5	37	c.1872	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.632	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	44	0	G	NM_006885		72992173	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	T	T	72992173	G	T	72992173	2	4	78	1	0	0	0	0	0	0	0	1	17682	958	34	3		3	ZFHX3	16	72992173	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	5080952	72992173	17362580	233	20601											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76587789	76587789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgcaatcaaaagtgacTctgcagtaattggaggtaat	15	11	9	6	0	2	1	1	1	1	0	2	2	2	2	0	2	2	4	0	2	6	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:76587789T>A	ENST00000563764.1	+	2	142	c.142T>A	c.(142-144)Tct>Act	p.S48T	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S1167T|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S1243T|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1191T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S1239T																							CAAAAGTGACTCTGCAGTAAT	0.373																																																	0													90	84	86					16																	76587789		1856	4106	5962	SO:0001583	missense	0																														ENST00000563764.1:c.142T>A	16.37:g.76587789T>A	ENSP00000455258:p.Ser48Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S1239T	ENST00000563764.1	37	c.3715		16	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782708	0.90282	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.43	5.43	0.79202	.	0.000000	0.41097	D	0.000946	T	0.75213	0.3819	.	.	.	0.51233	D	0.999915	D;D;D	0.71674	0.998;0.985;0.985	D;P;P	0.64687	0.928;0.871;0.785	T	0.74057	-0.3787	9	0.34782	T	0.22	.	15.65	0.77084	0.0:0.0:0.0:1.0	.	1167;1243;1240	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	T	1239;1191;1167;1243	ENSP00000306893:S1239T;ENSP00000439733:S1191T;ENSP00000418741:S1167T;ENSP00000417628:S1243T	ENSP00000306893:S1239T	S	+	1	0	CNTNAP4	75145290	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.149000	0.77396	2.281000	0.76405	0.528000	0.53228	TCT	CNTNAP4	-	NULL	ENSG00000152910		0.373	RP11-58C22.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000421971.1	-	0	59	0	T			76587789	1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	A	A	76587789	T	A	76587789	3	1	78	1	0	0	0	0	1	0	0	0	3656	1551	54	5	3821	5	CNTNAP4	16	76587789	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	3595616	76587789	13766964	234	20602											
FBXO31	79791	genome.wustl.edu	37	chr16	87367614	87367614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacggcatccccaggctcGccaccatcctcaccaggtgt	7	7	9	18	2	1	0	1	0	0	0	4	0	3	0	6	3	1	3	6	3	1	1	rs144062312		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr16:87367614G>A	ENST00000311635.7	-	8	1287	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A89V	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	425					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCCCAGGCTCGCCACCATCCT	0.721													G|||	1	0.000199681	8e-04	0	5008	,	,		14471	0		0	False		,,,				2504	0																0								G		4,4386		0,4,2191	23	25	24		1275	-2.1	0	16	dbSNP_134	24	0,8592		0,0,4296	no	coding-synonymous	FBXO31	NM_024735.3		0,4,6487	AA,AG,GG		0.0,0.0911,0.0308		425/540	87367614	4,12978	2195	4296	6491	SO:0001819	synonymous_variant	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1275C>T	16.37:g.87367614G>A			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.A134V	ENST00000311635.7	37	c.401	CCDS32501.1	16																																																																																			FBXO31	-	NULL	ENSG00000103264		0.721	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	-	0	27	0	G	NM_024735		87367614	-1	tier1	rs144062312	no_errors	ENST00000565593	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.000	A	A	87367614	G	A	87367614	2	1	78	1	0	0	0	0	0	0	0	1	5763	1074	38	1		1	FBXO31	16	87367614	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10779825	87367614	2987139	235	20603											
P2RX5	5026	genome.wustl.edu	37	chr17	3592831	3592831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggcccagcggatcacGgagcccagtcggaagatggg	8	4	15	14	4	1	1	1	0	0	1	3	4	2	4	3	5	2	0	3	5	1	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:3592831G>A	ENST00000225328.5	-	7	1106	c.708C>T	c.(706-708)tcC>tcT	p.S236S	P2RX5_ENST00000345901.3_Silent_p.S212S|P2RX5_ENST00000547178.1_Silent_p.S235S|P2RX5_ENST00000551178.1_Silent_p.S211S|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000435558.1_Silent_p.S236S|P2RX5-TAX1BP3_ENST00000550383.1_Silent_p.S236S|P2RX5_ENST00000552276.1_Silent_p.S235S|P2RX5_ENST00000552050.1_Silent_p.S176S	NM_001204519.1|NM_002561.3	NP_001191448.1|NP_002552.2	Q93086	P2RX5_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 5	236					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transport (GO:0006810)	integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|ion channel activity (GO:0005216)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						AGCGGATCACGGAGCCCAGTC	0.622																																																	0													157	131	140					17																	3592831		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016709	CCDS11034.1, CCDS11035.1, CCDS56014.1, CCDS56015.1	17p13.3	2012-01-17			ENSG00000083454	ENSG00000083454		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8536	protein-coding gene	gene with protein product		602836				9414125	Standard	NM_002561		Approved	P2X5	uc002fwi.3	Q93086	OTTHUMG00000090700	ENST00000225328.5:c.708C>T	17.37:g.3592831G>A			G5E981|O43450|O75540|Q308M5|Q59F38|Q8IXW4|Q93087|Q9NZV0	Silent	SNP	pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor	p.S236	ENST00000225328.5	37	c.708	CCDS11034.1	17																																																																																			P2RX5	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000083454		0.622	P2RX5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX5	HGNC	protein_coding	OTTHUMT00000207388.3	-	0	110	0	G	NM_002561, NM_175080, NM_175081		3592831	-1	tier1	-	no_errors	ENST00000435558	ensembl	human	known	74_37	silent	57.58	28	38	SNP	0.000	A	A	3592831	G	A	3592831	2	1	78	1	0	0	0	0	0	0	0	1	11382	1103	39	1		1	P2RX5	17	3592831	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		3592831	77602379	236	20604											
TP53	7157	genome.wustl.edu	37	chr17	7577556	7577557	+	In_Frame_Ins	INS	-	-	AGG																															ccggttcatgccgcccatgcINSaggaactgttacacatgtag																								rs121912655|rs397516437		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:7577556_7577557insAGG	ENST00000269305.4	-	7	913_914	c.724_725insCCT	c.(724-726)tgc>tCCTgc	p.241_242insS	TP53_ENST00000445888.2_In_Frame_Ins_p.241_242insS|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_In_Frame_Ins_p.241_242insS|TP53_ENST00000420246.2_In_Frame_Ins_p.241_242insS|TP53_ENST00000359597.4_In_Frame_Ins_p.241_242insS|TP53_ENST00000413465.2_In_Frame_Ins_p.241_242insS	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:16959974}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C242F(82)|p.C242Y(44)|p.C242S(26)|p.C242R(12)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.S241del(2)|p.C242G(2)|p.C149Y(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.C242fs*5(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGCCCATGCAGGAACTGTTA	0.579		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	206	Substitution - Missense(174)|Deletion - In frame(10)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)	lung(37)|upper_aerodigestive_tract(24)|large_intestine(19)|breast(18)|liver(18)|oesophagus(16)|ovary(14)|central_nervous_system(13)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(5)|bone(5)|pancreas(4)|prostate(4)|endometrium(3)|soft_tissue(1)|eye(1)|thymus(1)|kidney(1)	GRCh37	CM910618	TP53	M	rs121912655																																			SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722_724dupCCT	17.37:g.7577557_7577559dupAGG	ENSP00000269305:p.Ser241_Ser241dup		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.242in_frame_insS	ENST00000269305.4	37	c.725_724	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.579	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	49	0	-	NM_000546		7577557	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	in_frame_ins	36.54	33	19	INS	1.000:1.000	AGG	AGG	7577557	-	AGG	7577556	7	5	78	1	0	1	1	0	0	0	0	0	16429	710	25	0	565	0	TP53	17	7577556	In_Frame_Ins	INS	-	TCGA-L5-A893-01A-11D-A36J-09	3984725	7577556	73617654	237	20605											
KRT31	3881	genome.wustl.edu	37	chr17	39551570	39551570	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcgatgatctccgcctggTaggactgcagctgctctgag	6	10	13	12	2	2	2	0	2	2	0	4	4	2	3	2	2	3	5	2	2	1	1	rs202144470		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:39551570T>A	ENST00000251645.2	-	5	855	c.803A>T	c.(802-804)tAc>tTc	p.Y268F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	268	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCGCCTGGTAGGACTGCAG	0.592																																																	0													140	127	131					17																	39551570		2203	4300	6503	SO:0001583	missense	0			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"-", "Intermediate filaments type I, keratins (acidic)"	6448	protein-coding gene	gene with protein product	"hard keratin type I 1"	601077	"keratin, hair, acidic, 1"	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.803A>T	17.37:g.39551570T>A	ENSP00000251645:p.Tyr268Phe		Q9UE12	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.Y268F	ENST00000251645.2	37	c.803	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	t	13.33	2.204203	0.38905	.	.	ENSG00000094796	ENST00000251645	T	0.76968	-1.06	5.36	-10.7	0.00240	Filament (1);	0.781523	0.11946	N	0.514196	T	0.67277	0.2876	L	0.28556	0.865	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.39840	-0.9594	10	0.72032	D	0.01	.	25.0771	0.99993	0.0:0.8907:0.0:0.1093	.	268	Q15323	K1H1_HUMAN	F	268	ENSP00000251645:Y268F	ENSP00000251645:Y268F	Y	-	2	0	KRT31	36805096	0.000000	0.05858	0.112000	0.21494	0.757000	0.42996	-1.147000	0.03188	-2.552000	0.00479	-0.321000	0.08615	TAC	KRT31	-	pfam_IF,superfamily_Prefoldin	ENSG00000094796		0.592	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1		0	118	0	T	NM_002277		39551570	-1			no_errors	ENST00000251645	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.040	A	A	39551570	T	A	39551570	3	1	78	1	0	0	0	0	1	0	0	0	8494	1638	57	5	459	5	KRT31	17	39551570	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	31974014	39551570	41643640	238	20606											
KRT9	3857	genome.wustl.edu	37	chr17	39727651	39727651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taataaggggagtagttcttCtggatagcagcaggtccctt	10	12	12	7	0	2	0	0	0	2	0	3	2	3	2	1	4	2	4	1	4	4	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:39727651C>T	ENST00000246662.4	-	1	659	c.594G>A	c.(592-594)caG>caA	p.Q198Q	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	198	Linker 1.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				AGTAGTTCTTCTGGATAGCAG	0.453																																																	0													160	156	158					17																	39727651		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"-", "Intermediate filaments type I, keratins (acidic)"	6447	protein-coding gene	gene with protein product	"cytokeratin 9", "type I cytoskeletal 9", "epidermolytic palmoplantar keratoderma"	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.594G>A	17.37:g.39727651C>T			O00109|Q0IJ47|Q14665	Silent	SNP	pfam_IF,prints_Keratin_I	p.Q198	ENST00000246662.4	37	c.594	CCDS32654.1	17																																																																																			KRT9	-	pfam_IF	ENSG00000171403		0.453	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	-	0	114	0	C	NM_000226		39727651	-1	tier1	-	no_errors	ENST00000246662	ensembl	human	known	74_37	silent	9.68	111	12	SNP	0.000	T	T	39727651	C	T	39727651	2	4	78	1	0	0	0	0	0	0	0	1	8528	912	32	3		3	KRT9	17	39727651	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	176081	39727651	41467559	239	20607											
TOM1L1	10040	genome.wustl.edu	37	chr17	53016364	53016364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacttgctagccttggaGaatacagagatacccccgta	13	9	9	10	1	0	3	0	1	0	2	0	5	0	3	3	1	5	2	3	1	6	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:53016364G>T	ENST00000575882.1	+	11	1466	c.1113G>T	c.(1111-1113)gaG>gaT	p.E371D	TOM1L1_ENST00000540336.1_Missense_Mutation_p.E259D|TOM1L1_ENST00000445275.2_Missense_Mutation_p.E371D|TOM1L1_ENST00000348161.4_Missense_Mutation_p.E294D|TOM1L1_ENST00000572158.1_Missense_Mutation_p.E364D|TOM1L1_ENST00000536554.1_Missense_Mutation_p.E294D	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	371					activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TAGCCTTGGAGAATACAGAGA	0.398																																																	0													112	102	105					17																	53016364		2203	4300	6503	SO:0001583	missense	0			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"target of myb1 (chicken) homolog-like 1"			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.1113G>T	17.37:g.53016364G>T	ENSP00000460823:p.Glu371Asp		Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.E371D	ENST00000575882.1	37	c.1113	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752926	0.31046	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.25250	1.85;1.81;1.86;1.86	5.37	2.97	0.34412	.	0.899601	0.09116	N	0.846351	T	0.18593	0.0446	L	0.60455	1.87	0.27791	N	0.942828	P;P;P;P	0.42827	0.791;0.501;0.791;0.501	B;B;B;B	0.32677	0.15;0.107;0.15;0.107	T	0.11867	-1.0570	10	0.12430	T	0.62	-1.8641	5.8125	0.18473	0.7853:0.0:0.2147:0.0	.	259;364;294;371	B4DUW5;B4E1N0;B7Z9E2;O75674	.;.;.;TM1L1_HUMAN	D	371;259;294;294	ENSP00000408958:E371D;ENSP00000441242:E259D;ENSP00000343901:E294D;ENSP00000443099:E294D	ENSP00000343901:E294D	E	+	3	2	TOM1L1	50371363	1.000000	0.71417	0.898000	0.35279	0.642000	0.38348	2.115000	0.41921	1.051000	0.40369	-0.715000	0.03620	GAG	TOM1L1	-	pirsf_TOM1	ENSG00000141198		0.398	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	-	0	68	0	G	NM_005486		53016364	1	tier1	-	no_errors	ENST00000575882	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.981	T	T	53016364	G	T	53016364	3	4	78	1	0	0	0	0	1	0	0	0	16399	933	33	3	1155	3	TOM1L1	17	53016364	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	13288713	53016364	28178846	240	20608											
FASN	2194	genome.wustl.edu	37	chr17	80041189	80041189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgtaccaccccatcccgGatgccggcctgcacaagcgc	7	4	11	19	4	0	0	0	0	0	0	1	1	1	1	7	3	4	2	7	3	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr17:80041189G>T	ENST00000306749.2	-	32	5672	c.5454C>A	c.(5452-5454)atC>atA	p.I1818I	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1818	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCCCATCCCGGATGCCGGCCT	0.622																																					Colon(59;314 1043 11189 28578 32273)												0													75	71	72					17																	80041189		2199	4297	6496	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5454C>A	17.37:g.80041189G>T			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.I1818	ENST00000306749.2	37	c.5454	CCDS11801.1	17																																																																																			FASN	-	smart_PKS_ER	ENSG00000169710		0.622	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1		0	82	0	G	NM_004104		80041189	-1			no_errors	ENST00000306749	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.755	T	T	80041189	G	T	80041189	2	4	78	1	0	0	0	0	0	0	0	1	5705	1164	41	3		3	FASN	17	80041189	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	27024825	80041189	1154021	241	20609											
YES1	7525	genome.wustl.edu	37	chr18	724581	724581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagccctgagggcacGgcatcctgtatcctcgctcc	6	8	11	16	2	0	1	0	1	0	0	4	2	3	2	4	3	1	4	4	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:724581G>A	ENST00000584307.1	-	12	1645	c.1475C>T	c.(1474-1476)cCg>cTg	p.P492L	YES1_ENST00000577961.1_Missense_Mutation_p.P497L|YES1_ENST00000314574.4_Missense_Mutation_p.P492L			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTGAGGGCACGGCATCCTGTA	0.423																																																	0													92	94	94					18																	724581		2203	4300	6503	SO:0001583	missense	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1475C>T	18.37:g.724581G>A	ENSP00000462468:p.Pro492Leu		A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.P492L	ENST00000584307.1	37	c.1475	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495736	0.64186	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.83075	-1.68	4.95	4.95	0.65309	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.76002	2.32	0.80722	D	1	D	0.76494	0.999	D	0.68039	0.955	D	0.91760	0.5419	10	0.87932	D	0	.	18.5435	0.91038	0.0:0.0:1.0:0.0	.	492	P07947	YES_HUMAN	L	492	ENSP00000324740:P492L	ENSP00000324740:P492L	P	-	2	0	YES1	714581	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.510000	0.98004	2.468000	0.83385	0.591000	0.81541	CCG	YES1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000176105		0.423	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0	81	0	G	NM_005433		724581	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	A	A	724581	G	A	724581	3	1	78	1	0	0	0	0	1	0	0	0	17523	1116	39	1	160	1	YES1	18	724581	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		724581	77352667	242	20610											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6887184	6887184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtcaaagtacagtttcaAgccttacacctcatggtcat	12	11	6	12	1	4	0	4	0	0	0	4	0	4	0	2	1	3	2	2	1	4	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:6887184A>G	ENST00000383472.4	+	12	1586	c.1482A>G	c.(1480-1482)caA>caG	p.Q494Q	ARHGAP28_ENST00000531294.1_Silent_p.Q330Q|ARHGAP28_ENST00000400091.2_Silent_p.Q494Q|ARHGAP28_ENST00000418986.1_Silent_p.Q335Q|ARHGAP28_ENST00000532996.1_Silent_p.Q317Q|ARHGAP28_ENST00000419673.2_Silent_p.Q335Q|ARHGAP28_ENST00000314319.3_Silent_p.Q335Q|ARHGAP28_ENST00000262227.3_Silent_p.Q442Q			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	494	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TACAGTTTCAAGCCTTACACC	0.483																																																	0													153	128	137					18																	6887184		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1482A>G	18.37:g.6887184A>G			A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q494	ENST00000383472.4	37	c.1482		18																																																																																			ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.483	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	41	0	A	XM_371108		6887184	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	silent	11.76	45	6	SNP	1.000	G	G	6887184	A	G	6887184	2	3	78	1	0	0	0	0	0	0	0	1	877	69	3	4		4	ARHGAP28	18	6887184	Silent	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	6162603	6887184	71190064	243	20611											
FAM38B	63895	genome.wustl.edu	37	chr18	10784858	10784858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccggtcatggaagtagtGcaggtgtaaaatgcacacca	14	7	12	8	1	1	0	1	0	0	0	1	2	1	1	2	3	3	4	2	3	5	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:10784858G>T	ENST00000503781.3	-	17	2415	c.2416C>A	c.(2416-2418)Cac>Aac	p.H806N	PIEZO2_ENST00000302079.6_Missense_Mutation_p.H806N|PIEZO2_ENST00000580640.1_Missense_Mutation_p.H806N|PIEZO2_ENST00000383408.2_Missense_Mutation_p.H69N	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	806					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TGGAAGTAGTGCAGGTGTAAA	0.473																																																	0													282	232	248					18																	10784858		692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.2416C>A	18.37:g.10784858G>T	ENSP00000421377:p.His806Asn		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	NULL	p.H806N	ENST00000503781.3	37	c.2416		18	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839511	0.51057	.	.	ENSG00000154864	ENST00000302079;ENST00000383408	T;T	0.20069	2.1;2.1	5.35	5.35	0.76521	.	0.099447	0.37053	U	0.002261	T	0.50292	0.1607	M	0.78344	2.41	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.50030	-0.8875	10	0.54805	T	0.06	.	19.4254	0.94740	0.0:0.0:1.0:0.0	.	806	Q9H5I5-4	.	N	806;69	ENSP00000303316:H806N;ENSP00000372900:H69N	ENSP00000303316:H806N	H	-	1	0	FAM38B	10774858	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.420000	0.97426	2.657000	0.90304	0.650000	0.86243	CAC	PIEZO2	-	NULL	ENSG00000154864		0.473	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0	73	0	G	NM_022068		10784858	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	10784858	G	T	10784858	3	4	78	1	0	0	0	0	1	0	0	0	5577	1319	46	3	5986	3	FAM38B	18	10784858	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	3897674	10784858	67292390	244	20612											
SLC14A1	6563	genome.wustl.edu	37	chr18	43319149	43319149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttgaaatctataccagtgGgagttggtcagatctatggc	10	13	12	6	0	3	2	1	1	2	1	3	3	3	3	1	3	1	2	1	3	4	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:43319149G>A	ENST00000321925.4	+	7	917	c.685G>A	c.(685-687)Gga>Aga	p.G229R	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591541.1_5'Flank|SLC14A1_ENST00000589700.1_Intron|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000415427.3_Missense_Mutation_p.G285R|SLC14A1_ENST00000436407.3_Missense_Mutation_p.G285R|SLC14A1_ENST00000402943.2_Missense_Mutation_p.G124R|SLC14A1_ENST00000586142.1_Missense_Mutation_p.G229R|SLC14A1_ENST00000535474.1_Missense_Mutation_p.G97R|SLC14A1_ENST00000502059.2_Missense_Mutation_p.G121R	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	229					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TATACCAGTGGGAGTTGGTCA	0.463																																																	0													152	156	155					18																	43319149		2203	4300	6503	SO:0001583	missense	0			BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.685G>A	18.37:g.43319149G>A	ENSP00000318546:p.Gly229Arg		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.G285R	ENST00000321925.4	37	c.853	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	g	27.9	4.877133	0.91664	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000535474;ENST00000436407	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	D	0.86477	0.5942	H	0.95294	3.65	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.796	D;D;P	0.97110	1.0;0.997;0.859	D	0.89538	0.3790	10	0.87932	D	0	-11.7324	20.264	0.98458	0.0:0.0:1.0:0.0	.	285;121;229	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	R	229;285;121;124;97;285	ENSP00000318546:G229R;ENSP00000412309:G285R;ENSP00000442180:G121R;ENSP00000385320:G124R;ENSP00000441998:G97R;ENSP00000390637:G285R	ENSP00000318546:G229R	G	+	1	0	SLC14A1	41573147	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	9.172000	0.94808	2.785000	0.95823	0.645000	0.84053	GGA	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.463	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	-	0	72	0	G	NM_015865		43319149	1	tier1	-	no_errors	ENST00000415427	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A	A	43319149	G	A	43319149	3	1	78	1	0	0	0	0	1	0	0	0	14441	1233	43	3	875	3	SLC14A1	18	43319149	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	32534291	43319149	34758099	245	20613											
NETO1	81832	genome.wustl.edu	37	chr18	70417471	70417471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtgtgggcatctctGtcaagatagaagcatctctt	8	13	11	9	0	3	2	1	0	2	2	5	2	3	2	0	2	1	3	0	2	3	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr18:70417471G>T	ENST00000327305.6	-	9	2024	c.1367C>A	c.(1366-1368)aCa>aAa	p.T456K	NETO1_ENST00000299430.2_Missense_Mutation_p.T455K|NETO1_ENST00000583169.1_Missense_Mutation_p.T456K|RNA5SP460_ENST00000516789.1_RNA	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	456					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGGCATCTCTGTCAAGATAGA	0.488																																																	0													198	176	184					18																	70417471		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1367C>A	18.37:g.70417471G>T	ENSP00000313088:p.Thr456Lys		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.T456K	ENST00000327305.6	37	c.1367	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555085	0.65425	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.20881	2.04;2.04	5.76	5.76	0.90799	.	0.451006	0.20630	N	0.088609	T	0.24812	0.0602	L	0.44542	1.39	0.80722	D	1	B;B	0.20052	0.02;0.041	B;B	0.21708	0.036;0.031	T	0.02190	-1.1198	10	0.49607	T	0.09	-5.2135	19.973	0.97292	0.0:0.0:1.0:0.0	.	455;456	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	K	456;455	ENSP00000313088:T456K;ENSP00000299430:T455K	ENSP00000299430:T455K	T	-	2	0	NETO1	68568451	1.000000	0.71417	0.083000	0.20561	0.979000	0.70002	9.183000	0.94887	2.725000	0.93324	0.460000	0.39030	ACA	NETO1	-	NULL	ENSG00000166342		0.488	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0	50	0	G	NM_138999		70417471	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	39.29	51	33	SNP	0.997	T	T	70417471	G	T	70417471	3	4	78	1	0	0	0	0	1	0	0	0	10378	1377	48	3	242	3	NETO1	18	70417471	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	27098322	70417471	7659777	246	20614											
MIER2	54531	genome.wustl.edu	37	chr19	327958	327958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcctcgtagccatagagcGcaagcagctcatcaaagggc	12	5	11	13	3	2	1	2	0	0	1	3	1	2	1	2	1	4	4	2	1	4	2	rs140470504		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:327958G>A	ENST00000264819.4	-	4	285	c.275C>T	c.(274-276)gCg>gTg	p.A92V	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCATAGAGCGCAAGCAGCTC	0.592																																																	0								G	VAL/ALA	0,4406		0,0,2203	96	74	82		275	5	0.2	19	dbSNP_134	82	2,8598		0,2,4298	no	missense	MIER2	NM_017550.1	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	92/546	327958	2,13004	2203	4300	6503	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.275C>T	19.37:g.327958G>A	ENSP00000264819:p.Ala92Val		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.A92V	ENST00000264819.4	37	c.275	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	.	27.6	4.848274	0.91277	0.0	2.33E-4	ENSG00000105556	ENST00000264819	T	0.26373	1.74	5.01	5.01	0.66863	.	0.000000	0.46442	D	0.000297	T	0.51635	0.1686	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55036	-0.8203	10	0.62326	D	0.03	-19.341	15.4975	0.75666	0.0:0.0:1.0:0.0	.	92	Q8N344	MIER2_HUMAN	V	92	ENSP00000264819:A92V	ENSP00000264819:A92V	A	-	2	0	MIER2	278958	1.000000	0.71417	0.225000	0.23894	0.808000	0.45660	8.337000	0.90036	2.328000	0.79073	0.563000	0.77884	GCG	MIER2	-	NULL	ENSG00000105556		0.592	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	-	0	66	0	G	XM_041843		327958	-1	tier1	rs140470504	no_errors	ENST00000264819	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.992	A	A	327958	G	A	327958	3	1	78	1	0	0	0	0	1	0	0	0	9619	1087	38	1	1406	1	MIER2	19	327958	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		327958	58801025	247	20615											
ZNRF4	148066	genome.wustl.edu	37	chr19	5456047	5456047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcgccggcttcgaggCggccatcgtgcacaacgtcc	6	5	13	17	7	0	0	0	0	0	0	3	1	1	0	4	3	3	2	4	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:5456047C>T	ENST00000222033.4	+	1	622	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	182	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCTTCGAGGCGGCCATCGTG	0.652																																																	0													43	45	44					19																	5456047		2137	4243	6380	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.545C>T	19.37:g.5456047C>T	ENSP00000222033:p.Ala182Val		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A182V	ENST00000222033.4	37	c.545	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901196	0.72754	.	.	ENSG00000105428	ENST00000222033	T	0.12465	2.68	4.65	4.65	0.58169	Protease-associated domain, PA (1);	0.000000	0.85682	U	0.000000	T	0.45296	0.1335	M	0.91818	3.245	0.48395	D	0.999643	D	0.89917	1.0	D	0.80764	0.994	T	0.57694	-0.7767	10	0.87932	D	0	-20.7566	14.2204	0.65823	0.0:1.0:0.0:0.0	.	182	Q8WWF5	ZNRF4_HUMAN	V	182	ENSP00000222033:A182V	ENSP00000222033:A182V	A	+	2	0	ZNRF4	5407047	0.917000	0.31117	0.050000	0.19076	0.389000	0.30415	2.037000	0.41174	2.140000	0.66376	0.491000	0.48974	GCG	ZNRF4	-	pfam_Protease-assoc_domain	ENSG00000105428		0.652	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	-	0	65	0	C	NM_181710		5456047	1	tier1	-	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.758	T	T	5456047	C	T	5456047	3	4	78	1	0	0	0	0	1	0	0	0	18262	768	27	1	547	1	ZNRF4	19	5456047	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	5128089	5456047	53672936	248	20616											
YIPF2	78992	genome.wustl.edu	37	chr19	11034194	11034194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccatggccaggagggCgtggagcagcacgaccacgg	10	2	16	13	3	0	0	0	0	0	0	0	3	0	2	3	5	3	2	3	5	0	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:11034194C>T	ENST00000586748.1	-	8	983	c.811G>A	c.(811-813)Gcc>Acc	p.A271T	YIPF2_ENST00000590329.1_Missense_Mutation_p.A232T|YIPF2_ENST00000253031.2_Missense_Mutation_p.A271T			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	271						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GCCAGGAGGGCGTGGAGCAGC	0.706																																																	0													44	47	46					19																	11034194		2203	4298	6501	SO:0001583	missense	0			BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"Yip1 domain family"	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.811G>A	19.37:g.11034194C>T	ENSP00000466055:p.Ala271Thr			Missense_Mutation	SNP	pfam_Yip1	p.A271T	ENST00000586748.1	37	c.811	CCDS12251.1	19	.	.	.	.	.	.	.	.	.	.	C	1.928	-0.446641	0.04572	.	.	ENSG00000130733	ENST00000253031	.	.	.	4.7	1.23	0.21249	.	0.311359	0.34652	N	0.003792	T	0.35770	0.0943	L	0.52759	1.655	0.09310	N	1	B	0.22003	0.063	B	0.12837	0.008	T	0.19095	-1.0316	9	0.30078	T	0.28	-15.9809	7.7912	0.29121	0.2863:0.6348:0.0:0.0789	.	271	Q9BWQ6	YIPF2_HUMAN	T	271	.	ENSP00000253031:A271T	A	-	1	0	YIPF2	10895194	0.003000	0.15002	0.012000	0.15200	0.000000	0.00434	0.175000	0.16762	0.178000	0.19917	-0.181000	0.13052	GCC	YIPF2	-	NULL	ENSG00000130733		0.706	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YIPF2	HGNC	protein_coding	OTTHUMT00000453045.1	-	0	79	0	C	NM_024029		11034194	-1	tier1	-	no_errors	ENST00000253031	ensembl	human	known	74_37	missense	20.00	52	13	SNP	0.054	T	T	11034194	C	T	11034194	3	4	78	1	0	0	0	0	1	0	0	0	17527	768	27	1	147	1	YIPF2	19	11034194	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	5578147	11034194	48094789	249	20617											
GMIP	51291	genome.wustl.edu	37	chr19	19746376	19746376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctccagcccgtctcccaGgtctgcagggagacagggtc	7	8	12	14	1	3	1	0	0	3	1	6	2	3	1	3	3	2	1	3	3	0	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:19746376G>T	ENST00000203556.4	-	15	1545	c.1408C>A	c.(1408-1410)Ctg>Atg	p.L470M	GMIP_ENST00000587238.1_Missense_Mutation_p.L444M|GMIP_ENST00000445806.2_Missense_Mutation_p.L441M|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	470					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGTCTCCCAGGTCTGCAGGG	0.667																																																	0													59	58	59					19																	19746376		2203	4300	6503	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"Rho GTPase activating proteins"	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1408C>A	19.37:g.19746376G>T	ENSP00000203556:p.Leu470Met		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.L470M	ENST00000203556.4	37	c.1408	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352579	0.41700	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.25250	1.91;1.81	4.59	3.53	0.40419	.	0.225617	0.22617	N	0.057741	T	0.36413	0.0966	L	0.50333	1.59	0.30645	N	0.756022	D;D;D	0.71674	0.998;0.997;0.997	D;P;P	0.66196	0.942;0.85;0.85	T	0.24012	-1.0172	10	0.33141	T	0.24	-7.278	6.3717	0.21485	0.1002:0.189:0.7108:0.0	.	441;444;470	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	M	470;441	ENSP00000203556:L470M;ENSP00000397075:L441M	ENSP00000203556:L470M	L	-	1	2	GMIP	19607376	0.963000	0.33076	1.000000	0.80357	0.982000	0.71751	0.562000	0.23531	0.892000	0.36259	0.561000	0.74099	CTG	GMIP	-	NULL	ENSG00000089639		0.667	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0	31	0	G	NM_016573		19746376	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.919	T	T	19746376	G	T	19746376	3	4	78	1	0	0	0	0	1	0	0	0	6517	991	35	3	1532	3	GMIP	19	19746376	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	8712182	19746376	39382607	250	20618											
ATP4A	495	genome.wustl.edu	37	chr19	36041947	36041947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatgttgggcatgccGgggcagtagcacaggaagca	11	7	16	7	1	0	2	0	1	0	1	0	3	0	3	1	4	3	6	1	4	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:36041947G>A	ENST00000262623.3	-	20	2980	c.2952C>T	c.(2950-2952)ccC>ccT	p.P984P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	984					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGGGCATGCCGGGGCAGTAGC	0.597																																																	0													82	64	70					19																	36041947		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2952C>T	19.37:g.36041947G>A			O00738	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.P984	ENST00000262623.3	37	c.2952	CCDS12467.1	19																																																																																			ATP4A	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.597	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0	61	0	G	NM_000704		36041947	-1	tier1	-	no_errors	ENST00000262623	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.233	A	A	36041947	G	A	36041947	2	1	78	1	0	0	0	0	0	0	0	1	1146	1103	39	1		1	ATP4A	19	36041947	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	16295571	36041947	23087036	251	20619											
C19orf46	163183	genome.wustl.edu	37	chr19	36494298	36494298	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagggtgtcctgggtattcGggcatgagagcagcaggggc	7	8	19	7	1	0	1	0	1	0	1	2	2	1	1	1	5	2	5	1	5	2	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:36494298G>A	ENST00000324444.3	-	8	1267	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	SYNE4_ENST00000340477.5_Nonsense_Mutation_p.R273*	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	386	KASH. {ECO:0000255|PROSITE- ProRule:PRU00385}.				establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CTGGGTATTCGGGCATGAGAG	0.547																																																	0													46	47	46					19																	36494298		2040	4187	6227	SO:0001587	stop_gained	0			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.1156C>T	19.37:g.36494298G>A	ENSP00000316130:p.Arg386*		A8MRS0|A8MYE3|Q7Z7L3	Nonsense_Mutation	SNP	pfam_KASH,pfscan_KASH	p.R386*	ENST00000324444.3	37	c.1156	CCDS42553.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.277073|2.277073	0.40294|0.40294	.|.	.|.	ENSG00000181392|ENSG00000181392	ENST00000397428;ENST00000490730|ENST00000503121;ENST00000340477;ENST00000324444	T|.	0.53206|.	0.63|.	6.07|6.07	3.92|3.92	0.45320|0.45320	.|.	.|628.756000	.|0.00166	.|N	.|0.000000	T|.	0.30008|.	0.0751|.	.|.	.|.	.|.	0.37487|0.37487	D|D	0.916232|0.916232	D|.	0.62365|.	0.991|.	P|.	0.45753|.	0.492|.	T|.	0.47005|.	-0.9150|.	8|.	0.87932|0.02654	D|T	0|1	-31.9971|-31.9971	7.5563|7.5563	0.27827|0.27827	0.0824:0.0:0.7533:0.1643|0.0824:0.0:0.7533:0.1643	.|.	326|.	D6RAE3|.	.|.	L|X	90;326|123;273;386	ENSP00000422716:P326L|.	ENSP00000380572:P90L|ENSP00000316130:R386X	P|R	-|-	2|1	0|2	C19orf46|C19orf46	41186138|41186138	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.084000|0.084000	0.17831|0.17831	0.936000|0.936000	0.28938|0.28938	0.870000|0.870000	0.35726|0.35726	0.655000|0.655000	0.94253|0.94253	CCG|CGA	SYNE4	-	pfam_KASH,pfscan_KASH	ENSG00000181392		0.547	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE4	HGNC	protein_coding	OTTHUMT00000109525.3	-	0	58	0	G	NM_001039876		36494298	-1	tier1	-	no_errors	ENST00000324444	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.019	A	A	36494298	G	A	36494298	4	1	78	1	0	0	0	0	0	1	0	0	1936	1124	39	1	62	1	C19orf46	19	36494298	Nonsense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	452351	36494298	22634685	252	20620											
ZNF790	388536	genome.wustl.edu	37	chr19	37310980	37310980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaaaatgccattttttGgtaataacttcttggtctga	11	17	6	7	0	3	1	1	1	3	0	4	1	3	1	1	2	2	1	1	2	4	7			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:37310980G>T	ENST00000356725.4	-	5	386	c.266C>A	c.(265-267)cCa>cAa	p.P89Q	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	89					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GCCATTTTTTGGTAATAACTT	0.343																																																	0													56	57	57					19																	37310980		2203	4300	6503	SO:0001583	missense	0			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"Zinc fingers, C2H2-type", "-"	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.266C>A	19.37:g.37310980G>T	ENSP00000349161:p.Pro89Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P89Q	ENST00000356725.4	37	c.266	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	G	2.367	-0.345149	0.05208	.	.	ENSG00000197863	ENST00000356725;ENST00000528994;ENST00000525288	T;T;T	0.06608	3.28;6.12;5.72	3.08	0.472	0.16758	.	.	.	.	.	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	B	0.18968	0.032	B	0.16289	0.015	T	0.42464	-0.9450	9	0.38643	T	0.18	.	5.4071	0.16328	0.0:0.2022:0.5039:0.2939	.	89	Q6PG37	ZN790_HUMAN	Q	89	ENSP00000349161:P89Q;ENSP00000435944:P89Q;ENSP00000433389:P89Q	ENSP00000349161:P89Q	P	-	2	0	ZNF790	42002820	0.017000	0.18338	0.004000	0.12327	0.270000	0.26580	-0.192000	0.09587	0.021000	0.15133	0.484000	0.47621	CCA	ZNF790	-	NULL	ENSG00000197863		0.343	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	-	0	77	0	G	NM_206894		37310980	-1	tier1	-	no_errors	ENST00000356725	ensembl	human	known	74_37	missense	26.32	56	20	SNP	0.006	T	T	37310980	G	T	37310980	3	4	78	1	0	0	0	0	1	0	0	0	18210	1348	47	3	1648	3	ZNF790	19	37310980	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	816682	37310980	21818003	253	20621											
ZNF829	374899	genome.wustl.edu	37	chr19	37382649	37382649	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcatagagcttctcAccagcatgaattctgtgatg	11	13	7	10	0	4	3	3	2	2	1	5	3	4	3	1	0	2	2	1	0	2	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:37382649A>C	ENST00000391711.3	-	6	1408	c.1044T>G	c.(1042-1044)ggT>ggG	p.G348G	ZNF829_ENST00000520965.1_Silent_p.G429G|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGCTTCTCACCAGCATGAA	0.383																																																	0													64	67	66					19																	37382649		2194	4296	6490	SO:0001819	synonymous_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1044T>G	19.37:g.37382649A>C			Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G429	ENST00000391711.3	37	c.1287	CCDS42557.1	19																																																																																			ZNF829	-	pfscan_Znf_C2H2	ENSG00000185869		0.383	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	63	0	A	NM_001037232		37382649	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	silent	7.46	62	5	SNP	0.101	C	C	37382649	A	C	37382649	2	2	78	1	0	0	0	0	0	0	0	1	18230	146	6	4		4	ZNF829	19	37382649	Silent	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	71669	37382649	21746334	254	20622											
DEDD2	162989	genome.wustl.edu	37	chr19	42721106	42721106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatcccgtagtagtcCaggcactcatcctcctccca	9	8	7	17	1	1	0	1	0	0	0	6	1	6	0	5	1	1	4	5	1	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:42721106C>T	ENST00000595337.1	-	2	141	c.54G>A	c.(52-54)ctG>ctA	p.L18L	DEDD2_ENST00000598727.1_Silent_p.L18L|DEDD2_ENST00000593804.1_Intron|DEDD2_ENST00000336034.4_Silent_p.L18L|DEDD2_ENST00000596251.1_Silent_p.L18L	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	18					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGTAGTAGTCCAGGCACTCAT	0.652																																																	0													23	17	19					19																	42721106		2190	4297	6487	SO:0001819	synonymous_variant	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.54G>A	19.37:g.42721106C>T			Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Silent	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.L18	ENST00000595337.1	37	c.54	CCDS12597.1	19																																																																																			DEDD2	-	NULL	ENSG00000160570		0.652	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	-	0	50	0	C	NM_133328		42721106	-1	tier1	-	no_errors	ENST00000595337	ensembl	human	known	74_37	silent	32.35	23	11	SNP	1.000	T	T	42721106	C	T	42721106	2	4	78	1	0	0	0	0	0	0	0	1	4394	581	21	3		3	DEDD2	19	42721106	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	5338457	42721106	16407877	255	20623											
NKPD1	284353	genome.wustl.edu	37	chr19	45655400	45655400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacttgggcgggctgggCggcttgagcgcgctgacggc	3	6	22	10	5	0	2	0	2	0	0	0	3	0	3	0	7	1	3	0	7	0	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:45655400C>T	ENST00000438936.2	-	3	1840	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	NKPD1_ENST00000429338.1_Intron|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Silent_p.P543P|NKPD1_ENST00000317951.4_Silent_p.P765P			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	543						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GCGGGCTGGGCGGCTTGAGCG	0.741																																																	0													6	10	9					19																	45655400		1934	4065	5999	SO:0001819	synonymous_variant	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1629G>A	19.37:g.45655400C>T			B7ZLG6|D6RH15|Q8N2A2	Silent	SNP	pfam_KAP_NTPase	p.P765	ENST00000438936.2	37	c.2295		19																																																																																			NKPD1	-	NULL	ENSG00000179846		0.741	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0	17	0	C	NM_198478		45655400	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.994	T	T	45655400	C	T	45655400	2	4	78	1	0	0	0	0	0	0	0	1	10485	755	27	1		1	NKPD1	19	45655400	Silent	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2934294	45655400	13473583	256	20624											
PPP5C	5536	genome.wustl.edu	37	chr19	46891917	46891917	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatatcatccgcagccacgaAgtcaaggccgagggctacga	12	6	11	12	4	2	0	2	0	0	0	3	3	3	0	3	2	2	2	3	2	5	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:46891917A>T	ENST00000012443.4	+	11	1387	c.1284A>T	c.(1282-1284)gaA>gaT	p.E428D	AC007193.8_ENST00000598616.1_RNA|PPP5C_ENST00000391919.1_Missense_Mutation_p.E300D	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	428	Catalytic.				cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		GCAGCCACGAAGTCAAGGCCG	0.597																																																	0													119	100	107					19																	46891917		2203	4300	6503	SO:0001583	missense	0				CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "Tetratricopeptide (TTC) repeat domain containing"	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.1284A>T	19.37:g.46891917A>T	ENSP00000012443:p.Glu428Asp		Q16722|Q53XV2	Missense_Mutation	SNP	pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase	p.E428D	ENST00000012443.4	37	c.1284	CCDS12684.1	19	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060632	0.55432	.	.	ENSG00000011485	ENST00000012443;ENST00000451918;ENST00000391919	T;T	0.62941	-0.01;-0.01	5.09	1.76	0.24704	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.997	D	0.83369	0.0006	10	0.87932	D	0	-24.012	7.164	0.25679	0.3751:0.0:0.6249:0.0	.	428;428	B2R6R6;P53041	.;PPP5_HUMAN	D	428;415;300	ENSP00000012443:E428D;ENSP00000375786:E300D	ENSP00000012443:E428D	E	+	3	2	PPP5C	51583757	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	1.972000	0.40540	0.166000	0.19597	-0.252000	0.11476	GAA	PPP5C	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000011485		0.597	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP5C	HGNC	protein_coding	OTTHUMT00000258969.2		0	51	0	A	NM_006247		46891917	1			no_errors	ENST00000012443	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	46891917	A	T	46891917	3	4	78	1	0	0	0	0	1	0	0	0	12448	69	3	5	1326	5	PPP5C	19	46891917	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	1236517	46891917	12237066	257	20625											
SNRNP70	6625	genome.wustl.edu	37	chr19	49611242	49611242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggagcaaggacaaggacCgggaccggaagcggcgaagc	13	0	18	10	5	0	0	0	0	0	0	0	6	0	5	2	6	4	1	2	6	4	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:49611242C>T	ENST00000598441.1	+	10	1080	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R277W			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	286	Arg/Glu-rich (mixed charge).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGACAAGGACCGGGACCGGAA	0.751																																																	0													7	11	10					19																	49611242		1965	3903	5868	SO:0001583	missense	0				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"RNA binding motif (RRM) containing"	11150	protein-coding gene	gene with protein product		180740	"small nuclear ribonucleoprotein 70kDa (RNP antigen)"	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.856C>T	19.37:g.49611242C>T	ENSP00000472998:p.Arg286Trp		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R286W	ENST00000598441.1	37	c.856	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920011	0.52653	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	.	.	.	3.65	2.58	0.30949	.	0.128086	0.47852	D	0.000206	T	0.63581	0.2523	L	0.50333	1.59	0.53005	D	0.99996	D;D	0.65815	0.991;0.995	P;P	0.59643	0.73;0.861	T	0.65236	-0.6217	9	0.87932	D	0	-5.9004	9.9532	0.41651	0.3643:0.6357:0.0:0.0	.	286;277	P08621;P08621-2	RU17_HUMAN;.	W	286;190	.	ENSP00000221448:R286W	R	+	1	2	SNRNP70	54303054	0.996000	0.38824	1.000000	0.80357	0.880000	0.50808	0.980000	0.29513	0.857000	0.35407	0.313000	0.20887	CGG	SNRNP70	-	NULL	ENSG00000104852		0.751	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1		0	11	0	C	NM_003089		49611242	1			no_errors	ENST00000598441	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T	T	49611242	C	T	49611242	3	4	78	1	0	0	0	0	1	0	0	0	14903	643	23	1	890	1	SNRNP70	19	49611242	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	2719325	49611242	9517741	258	20626											
KIR2DL3	3804	genome.wustl.edu	37	chr19	55250015	55250015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcacagacagcaccatgtCgctcatggtcgtcagcatgg	9	8	11	13	2	2	1	2	0	0	1	4	1	2	1	1	2	3	4	1	2	0	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr19:55250015C>T	ENST00000342376.3	+	1	36	c.5C>T	c.(4-6)tCg>tTg	p.S2L	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S2L|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	2					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AGCACCATGTCGCTCATGGTC	0.602											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													82	93	89					19																	55250015		1987	3943	5930	SO:0001583	missense	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.5C>T	19.37:g.55250015C>T	ENSP00000342215:p.Ser2Leu	1006	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.S2L	ENST00000342376.3	37	c.5	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339198	0.24253	.	.	ENSG00000243772	ENST00000342376;ENST00000434419	T;T	0.00493	7.01;7.0	0.109	0.109	0.14578	.	.	.	.	.	T	0.00384	0.0012	L	0.55017	1.72	0.20196	N	0.999929	B;P;B	0.42375	0.013;0.778;0.005	B;B;B	0.26517	0.003;0.07;0.005	T	0.49523	-0.8931	8	0.66056	D	0.02	.	.	.	.	.	2;2;2	E3NZD7;P43628-2;P43628	.;.;KI2L3_HUMAN	L	2	ENSP00000342215:S2L;ENSP00000415758:S2L	ENSP00000342215:S2L	S	+	2	0	KIR2DL3	59941827	0.000000	0.05858	0.102000	0.21198	0.103000	0.19146	-0.418000	0.07080	0.181000	0.19994	0.184000	0.17185	TCG	KIR2DL3	-	NULL	ENSG00000243772		0.602	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	-	0	33	0	C			55250015	1	tier1	-	no_errors	ENST00000434419	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.978	T	T	55250015	C	T	55250015	3	4	78	1	0	0	0	0	1	0	0	0	8344	893	31	1	7	1	KIR2DL3	19	55250015	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	5638773	55250015	3878968	259	20627											
SCRT2	85508	genome.wustl.edu	37	chr20	644465	644465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgagtgcgtctgcatGtgcgcgcgcaggttggagcg	6	7	18	10	6	1	0	0	0	1	0	1	2	1	1	1	3	4	3	1	3	1	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:644465G>C	ENST00000246104.6	-	2	1351	c.774C>G	c.(772-774)caC>caG	p.H258Q	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	258					negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neuron migration (GO:2001222)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			kidney(1)|liver(1)|ovary(1)	3						GCGTCTGCATGTGCGCGCGCA	0.677																																																	0													15	15	15					20																	644465		2198	4291	6489	SO:0001583	missense	0				CCDS13006.1	20p13	2013-10-09	2013-10-09		ENSG00000215397	ENSG00000215397		"Zinc fingers, C2H2-type"	15952	protein-coding gene	gene with protein product			"scratch (drosophila homolog) 2, zinc finger protein", "scratch homolog 2, zinc finger protein (Drosophila)"			11274425	Standard	NM_033129		Approved	ZNF898B	uc002wec.3	Q9NQ03	OTTHUMG00000130829	ENST00000246104.6:c.774C>G	20.37:g.644465G>C	ENSP00000246104:p.His258Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H258Q	ENST00000246104.6	37	c.774	CCDS13006.1	20	.	.	.	.	.	.	.	.	.	.	g	21.9	4.210599	0.79240	.	.	ENSG00000215397	ENST00000246104	D	0.86865	-2.18	3.66	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000001	D	0.94089	0.8105	M	0.93150	3.385	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.93569	0.6902	10	0.87932	D	0	-15.6037	9.5993	0.39593	0.1075:0.0:0.8925:0.0	.	258	Q9NQ03	SCRT2_HUMAN	Q	258	ENSP00000246104:H258Q	ENSP00000246104:H258Q	H	-	3	2	SCRT2	592465	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.939000	0.70179	0.727000	0.32360	0.457000	0.33378	CAC	SCRT2	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000215397		0.677	SCRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRT2	HGNC	protein_coding	OTTHUMT00000253383.2		0	11	0	G	NM_033129		644465	-1			no_errors	ENST00000246104	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	C	C	644465	G	C	644465	3	2	78	1	0	0	0	0	1	0	0	0	13987	1368	48	5	153	5	SCRT2	20	644465	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		644465	62381055	260	20628											
PLK1S1	55857	genome.wustl.edu	37	chr20	21209679	21209679	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatcagttgctgaagaaggCcacccttcaggataatacaa	14	9	8	10	0	2	2	2	1	0	1	2	3	2	3	2	2	2	2	2	2	6	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:21209679C>T	ENST00000457464.1	+	0	1306																											CTGAAGAAGGCCACCCTTCAG	0.373																																																	0													62	57	59					20																	21209679		1877	4103	5980			0																															20.37:g.21209679C>T				RNA	SNP	-	NULL	ENST00000457464.1	37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970		0.373	PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	PLK1S1	HGNC	processed_transcript	OTTHUMT00000078262.2	-	0	72	0	C			21209679	1	tier1	-	no_errors	ENST00000246027	ensembl	human	known	74_37	rna	8.70	42	4	SNP	0.999	T	T	21209679	C	T	21209679	1	4	78	0	1	0	0	0	0	0	0	0	12134	739	26	3		3	PLK1S1	20	21209679	RNA	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	20565214	21209679	41815841	261	20629											
B4GALT5	9334	genome.wustl.edu	37	chr20	48252991	48252991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgacttcctcagcagaGcatacctgtttagggaggga	9	12	11	9	0	1	2	1	1	0	1	2	4	2	4	2	2	3	3	2	2	2	6			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:48252991G>A	ENST00000371711.4	-	9	1212	c.1025C>T	c.(1024-1026)gCt>gTt	p.A342V		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	342					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CCTCAGCAGAGCATACCTGTT	0.517																																																	0													153	132	139					20																	48252991		2203	4300	6503	SO:0001583	missense	0			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"Beta 4-glycosyltransferases"	928	protein-coding gene	gene with protein product	"beta4-GalT IV"	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1025C>T	20.37:g.48252991G>A	ENSP00000360776:p.Ala342Val		E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.A342V	ENST00000371711.4	37	c.1025	CCDS13420.1	20	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739006	0.49045	.	.	ENSG00000158470	ENST00000371711	T	0.35605	1.3	5.43	4.48	0.54585	.	0.194625	0.53938	N	0.000043	T	0.31295	0.0792	L	0.42245	1.32	0.22531	N	0.999019	P	0.40794	0.729	B	0.37451	0.25	T	0.12734	-1.0536	10	0.40728	T	0.16	-9.7111	14.2674	0.66129	0.0721:0.0:0.9279:0.0	.	342	O43286	B4GT5_HUMAN	V	342	ENSP00000360776:A342V	ENSP00000360776:A342V	A	-	2	0	B4GALT5	47686398	0.716000	0.27956	0.891000	0.34965	0.973000	0.67179	2.650000	0.46665	1.283000	0.44513	0.563000	0.77884	GCT	B4GALT5	-	pfam_Galactosyl_T_C	ENSG00000158470		0.517	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT5	HGNC	protein_coding	OTTHUMT00000080543.3		0	55	0	G	NM_004776		48252991	-1			no_errors	ENST00000371711	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.203	A	A	48252991	G	A	48252991	3	1	78	1	0	0	0	0	1	0	0	0	1275	971	34	3	145	3	B4GALT5	20	48252991	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	27043312	48252991	14772529	262	20630											
BMP7	655	genome.wustl.edu	37	chr20	55803343	55803343	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggaacgtctcattgtcgaAgcgttcccggatgtagtcct	7	11	11	12	5	1	0	1	0	1	0	5	3	3	2	3	2	2	2	3	2	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr20:55803343A>C	ENST00000395863.3	-	2	1058	c.553T>G	c.(553-555)Ttc>Gtc	p.F185V	BMP7_ENST00000395864.3_Missense_Mutation_p.F185V|BMP7_ENST00000450594.2_Missense_Mutation_p.F185V	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	185					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCATTGTCGAAGCGTTCCCGG	0.547																																																	0													141	137	139					20																	55803343		2203	4300	6503	SO:0001583	missense	0				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"Bone morphogenetic proteins", "Endogenous ligands"	1074	protein-coding gene	gene with protein product	"osteogenic protein 1"	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.553T>G	20.37:g.55803343A>C	ENSP00000379204:p.Phe185Val		Q9H512|Q9NTQ7	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.F185V	ENST00000395863.3	37	c.553	CCDS13455.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.50|16.50	3.140632|3.140632	0.56936|0.56936	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594|ENST00000433911	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Transforming growth factor-beta, N-terminal (1);|.	0.043698|.	0.85682|.	D|.	0.000000|.	T|T	0.73961|0.73961	0.3654|0.3654	M|M	0.69823|0.69823	2.125|2.125	0.58432|0.58432	D|D	0.999998|0.999998	P;B;P|.	0.41848|.	0.612;0.004;0.763|.	B;B;B|.	0.42163|.	0.334;0.038;0.378|.	T|T	0.74074|0.74074	-0.3782|-0.3782	10|5	0.16420|.	T|.	0.52|.	.|.	15.8419|15.8419	0.78852|0.78852	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	185;185;185|.	B1AKZ9;P18075;B1AL00|.	.;BMP7_HUMAN;.|.	V|R	185|70	ENSP00000379204:F185V;ENSP00000379205:F185V;ENSP00000398687:F185V|.	ENSP00000379204:F185V|.	F|L	-|-	1|2	0|0	BMP7|BMP7	55236750|55236750	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.993000|0.993000	0.82548|0.82548	3.838000|3.838000	0.55828|0.55828	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	TTC|CTT	BMP7	-	pfam_TGF-b_N	ENSG00000101144		0.547	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BMP7	HGNC	protein_coding	OTTHUMT00000079831.2	-	0	43	0	A			55803343	-1	tier1	-	no_errors	ENST00000395863	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	C	C	55803343	A	C	55803343	3	2	78	1	0	0	0	0	1	0	0	0	1467	72	3	4	766	4	BMP7	20	55803343	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	7550352	55803343	7222177	263	20631											
USP16	10600	genome.wustl.edu	37	chr21	30402977	30402977	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgaaaaaggctttagtGaatgtggaatggaatatctg	15	13	11	2	0	1	2	0	2	1	0	1	4	1	4	0	3	0	1	0	3	8	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr21:30402977G>T	ENST00000334352.4	+	4	354	c.123G>T	c.(121-123)gtG>gtT	p.V41V	USP16_ENST00000399975.3_Silent_p.V41V|USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Silent_p.V41V	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGGCTTTAGTGAATGTGGAAT	0.348																																					Melanoma(92;625 1444 27493 34101 44971)												0													90	89	90					21																	30402977		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.123G>T	21.37:g.30402977G>T				Silent	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.V41	ENST00000334352.4	37	c.123	CCDS13583.1	21																																																																																			USP16	-	NULL	ENSG00000156256		0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	USP16	HGNC	protein_coding	OTTHUMT00000171847.1	-	0	105	0	G			30402977	1	tier1	-	no_errors	ENST00000334352	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.986	T	T	30402977	G	T	30402977	2	4	78	1	0	0	0	0	0	0	0	1	17096	1277	45	3		3	USP16	21	30402977	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09		30402977	17726918	264	20632											
GCFC1	94104	genome.wustl.edu	37	chr21	34110576	34110576	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaccatctattgataactCttgcagagttttatttgaga	13	16	6	6	0	2	3	0	2	2	2	2	4	2	3	1	0	3	2	1	0	5	8			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr21:34110576C>A	ENST00000331923.4	-	16	2578	c.2389G>T	c.(2389-2391)Gag>Tag	p.E797*	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	797					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATTGATAACTCTTGCAGAGTT	0.318																																																	0													62	64	63					21																	34110576		2203	4295	6498	SO:0001587	stop_gained	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2389G>T	21.37:g.34110576C>A	ENSP00000328992:p.Glu797*		D3DSE7|Q96DU8|Q9NYQ0	Nonsense_Mutation	SNP	pfam_GCFC_dom	p.E797*	ENST00000331923.4	37	c.2389	CCDS13619.1	21	.	.	.	.	.	.	.	.	.	.	C	39	7.863254	0.98531	.	.	ENSG00000159086	ENST00000331923	.	.	.	5.72	4.84	0.62591	.	0.046527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-23.8936	14.7823	0.69776	0.0:0.9301:0.0:0.0699	.	.	.	.	X	797	.	ENSP00000328992:E797X	E	-	1	0	GCFC1	33032447	1.000000	0.71417	0.998000	0.56505	0.886000	0.51366	6.670000	0.74467	1.577000	0.49804	0.563000	0.77884	GAG	PAXBP1	-	pfam_GCFC_dom	ENSG00000159086		0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1		0	25	0	C	NM_013329		34110576	-1			no_errors	ENST00000331923	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	A	A	34110576	C	A	34110576	4	1	78	1	0	0	0	0	0	1	0	0	6314	922	32	3	376	3	GCFC1	21	34110576	Nonsense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	3707599	34110576	14019319	265	20633											
TTC3	7267	genome.wustl.edu	37	chr21	38516931	38516931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgattattgaagagtctcagCcacaaaaaataaaggtaacc	18	9	7	7	0	1	3	1	2	1	1	2	3	1	3	2	1	2	1	2	1	8	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr21:38516931C>T	ENST00000399017.2	+	21	4626	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.P627S|TTC3_ENST00000354749.2_Missense_Mutation_p.P627S|TTC3_ENST00000540756.1_Missense_Mutation_p.P317S	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	627					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGAGTCTCAGCCACAAAAAAT	0.408																																					Ovarian(38;194 1649 35661)												0													137	131	133					21																	38516931		2203	4300	6503	SO:0001583	missense	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1879C>T	21.37:g.38516931C>T	ENSP00000381981:p.Pro627Ser		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.P627S	ENST00000399017.2	37	c.1879	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993877	0.35131	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.50001	2.58;0.78;2.6;2.9;0.76;2.9;2.9	5.17	3.23	0.37069	.	0.328493	0.26481	N	0.024126	T	0.44685	0.1305	N	0.17082	0.46	0.29406	N	0.861614	B;D	0.89917	0.147;1.0	B;D	0.83275	0.021;0.996	T	0.29941	-0.9995	10	0.37606	T	0.19	-16.7947	4.9399	0.13960	0.1849:0.6044:0.1263:0.0844	.	317;627	B4DSZ9;P53804	.;TTC3_HUMAN	S	627;627;609;627;317;627;627	ENSP00000403943:P627S;ENSP00000408456:P627S;ENSP00000391891:P609S;ENSP00000347889:P627S;ENSP00000442875:P317S;ENSP00000381981:P627S;ENSP00000346791:P627S	ENSP00000346791:P627S	P	+	1	0	TTC3	37438801	0.436000	0.25586	0.975000	0.42487	0.985000	0.73830	0.892000	0.28322	2.561000	0.86390	0.655000	0.94253	CCA	TTC3	-	NULL	ENSG00000182670		0.408	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0	68	0	C			38516931	1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	32.39	48	23	SNP	0.577	T	T	38516931	C	T	38516931	3	4	78	1	0	0	0	0	1	0	0	0	16746	739	26	3	1957	3	TTC3	21	38516931	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	4406355	38516931	9612964	266	20634											
MICAL3	57553	genome.wustl.edu	37	chr22	18293531	18293531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgagctgccttttgcaCacgccgggtcagcttggcat	5	11	11	14	3	2	0	1	0	1	0	3	1	2	0	3	2	4	4	3	2	0	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr22:18293531C>T	ENST00000441493.2	-	28	5846	c.5494G>A	c.(5494-5496)Gtg>Atg	p.V1832M	XXbac-B461K10.4_ENST00000476405.1_RNA|MICAL3_ENST00000580469.1_5'UTR	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1832					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCCTTTTGCACACGCCGGGTC	0.582																																																	0													94	99	97					22																	18293531		2184	4280	6464	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5494G>A	22.37:g.18293531C>T	ENSP00000416015:p.Val1832Met		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.V1832M	ENST00000441493.2	37	c.5494	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	15.62	2.888497	0.52014	.	.	ENSG00000093100	ENST00000441493	T	0.66460	-0.21	4.81	4.81	0.61882	.	0.228496	0.34879	N	0.003616	T	0.74114	0.3674	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74287	-0.3714	10	0.39692	T	0.17	.	17.8904	0.88870	0.0:1.0:0.0:0.0	.	1832	Q7RTP6	MICA3_HUMAN	M	1832	ENSP00000416015:V1832M	ENSP00000416015:V1832M	V	-	1	0	XXbac-B461K10.4	16673531	1.000000	0.71417	0.988000	0.46212	0.944000	0.59088	7.818000	0.86416	2.215000	0.71742	0.462000	0.41574	GTG	MICAL3	-	NULL	ENSG00000243156		0.582	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0	45	0	C			18293531	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	8.33	43	4	SNP	1.000	T	T	18293531	C	T	18293531	3	4	78	1	0	0	0	0	1	0	0	0	9609	478	17	3	534	3	MICAL3	22	18293531	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09		18293531	33011035	267	20635											
SLC25A1	6576	genome.wustl.edu	37	chr22	19164397	19164397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggtcatgacgaagaagCggatggcctggttcgagccc	9	6	17	9	3	1	2	1	1	0	1	2	6	1	4	2	5	2	1	2	5	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr22:19164397C>T	ENST00000215882.5	-	6	749	c.593G>A	c.(592-594)cGc>cAc	p.R198H	CLTCL1_ENST00000442042.2_5'Flank|SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.R95H	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	198					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|citrate transport (GO:0015746)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	citrate transmembrane transporter activity (GO:0015137)			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		GACGAAGAAGCGGATGGCCTG	0.642																																																	0													90	80	84					22																	19164397		2203	4300	6503	SO:0001583	missense	0			U25147	CCDS13758.1, CCDS74817.1	22q11	2013-05-22			ENSG00000100075	ENSG00000100075		"Solute carriers"	10979	protein-coding gene	gene with protein product		190315	"solute carrier family 20 (mitochondrial citrate transporter), member 3"	SLC20A3		8666394, 9254007	Standard	NM_001256534		Approved	CTP	uc002zoz.4	P53007	OTTHUMG00000150123	ENST00000215882.5:c.593G>A	22.37:g.19164397C>T	ENSP00000215882:p.Arg198His		A8K8E8|Q9BSK6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R198H	ENST00000215882.5	37	c.593	CCDS13758.1	22	.	.	.	.	.	.	.	.	.	.	C	37	6.366663	0.97511	.	.	ENSG00000100075	ENST00000215882;ENST00000451283	T;T	0.78364	-1.17;-1.17	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91556	0.7333	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93184	0.6577	10	0.66056	D	0.02	-0.5499	19.3447	0.94358	0.0:1.0:0.0:0.0	.	205;198	D9HTE9;P53007	.;TXTP_HUMAN	H	198;95	ENSP00000215882:R198H;ENSP00000401480:R95H	ENSP00000215882:R198H	R	-	2	0	SLC25A1	17544397	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.768000	0.85345	2.557000	0.86248	0.462000	0.41574	CGC	SLC25A1	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000100075		0.642	SLC25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A1	HGNC	protein_coding	OTTHUMT00000316441.1		0	76	0	C	NM_005984		19164397	-1			no_errors	ENST00000215882	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	19164397	C	T	19164397	3	4	78	1	0	0	0	0	1	0	0	0	14516	768	27	1	358	1	SLC25A1	22	19164397	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	870866	19164397	32140169	268	20636											
NF2	4771	genome.wustl.edu	37	chr22	30038263	30038263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctggcttcttacgccGtccaggccaaggtaggctca	6	10	11	14	2	2	0	1	0	1	0	4	0	4	0	4	4	2	4	4	4	3	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chr22:30038263G>T	ENST00000338641.4	+	4	877	c.436G>T	c.(436-438)Gtc>Ttc	p.V146F	NF2_ENST00000403999.3_Missense_Mutation_p.V146F|NF2_ENST00000361676.4_Missense_Mutation_p.V104F|NF2_ENST00000403435.1_Missense_Mutation_p.V146F|NF2_ENST00000334961.7_Missense_Mutation_p.V63F|NF2_ENST00000361166.4_Missense_Mutation_p.V146F|NF2_ENST00000353887.4_Missense_Mutation_p.V63F|NF2_ENST00000397789.3_Missense_Mutation_p.V146F|NF2_ENST00000347330.5_Missense_Mutation_p.V63F|NF2_ENST00000413209.2_Missense_Mutation_p.V146F|NF2_ENST00000361452.4_Missense_Mutation_p.V105F	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	146	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.?(2)|p.Y144fs*5(1)|p.V146I(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCTTACGCCGTCCAGGCCAA	0.448			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	10	Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(1)	soft_tissue(7)|meninges(1)|large_intestine(1)|stomach(1)											72	70	71					22																	30038263		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"A-kinase anchor proteins"	7773	protein-coding gene	gene with protein product	"moesin-ezrin-radixin like", "schwannomin"	607379	"neurofibromin 2 (bilateral acoustic neuroma)"			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.436G>T	22.37:g.30038263G>T	ENSP00000344666:p.Val146Phe		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin	p.V146F	ENST00000338641.4	37	c.436	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910151	0.72983	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;D;T;T;T;T;T;T;T;T;T	0.94376	-1.13;-3.41;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.24	4.22	0.49857	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	M	0.90759	3.145	0.39144	D	0.962105	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.996;0.997;0.999;0.999;0.998;0.999;0.998	D	0.98270	1.0503	9	.	.	.	.	13.9963	0.64405	0.0735:0.0:0.9265:0.0	.	146;105;146;146;104;63;146	P35240-9;P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;.;MERL_HUMAN;.;.;.;.	F	146;63;146;146;105;146;146;63;63;146;104;146	ENSP00000409921:V146F;ENSP00000335160:V63F;ENSP00000344666:V146F;ENSP00000384029:V146F;ENSP00000354897:V105F;ENSP00000384797:V146F;ENSP00000335652:V63F;ENSP00000340626:V63F;ENSP00000380891:V146F;ENSP00000355183:V104F;ENSP00000354529:V146F	.	V	+	1	0	NF2	28368263	1.000000	0.71417	0.984000	0.44739	0.960000	0.62799	9.777000	0.99008	1.213000	0.43380	0.655000	0.94253	GTC	NF2	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam	ENSG00000186575		0.448	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3		0	40	0	G	NM_000268		30038263	1			no_errors	ENST00000338641	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	30038263	G	T	30038263	3	4	78	1	0	0	0	0	1	0	0	0	10396	1145	40	2	450	2	NF2	22	30038263	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	10873866	30038263	21266303	269	20637											
TLR8	51311	genome.wustl.edu	37	chrX	12937425	12937425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaagggctgcaaaatcTcactaaaataaatctaaacc	18	10	4	9	0	3	0	2	0	2	0	4	0	3	0	1	1	2	2	1	1	9	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:12937425T>C	ENST00000218032.6	+	2	353	c.266T>C	c.(265-267)cTc>cCc	p.L89P	TLR8_ENST00000311912.5_Missense_Mutation_p.L107P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	89					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CTGCAAAATCTCACTAAAATA	0.418																																																	0													113	113	113					X																	12937425		2203	4300	6503	SO:0001583	missense	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"CD molecules"	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.266T>C	X.37:g.12937425T>C	ENSP00000218032:p.Leu89Pro		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L89P	ENST00000218032.6	37	c.266	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	T	18.95	3.731229	0.69189	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.81330	-1.48;-1.48	5.2	5.2	0.72013	.	0.216999	0.23243	N	0.050322	D	0.91811	0.7409	H	0.94925	3.6	0.80722	D	1	D;D	0.69078	0.975;0.997	P;D	0.65773	0.794;0.938	D	0.93816	0.7114	10	0.87932	D	0	.	14.2604	0.66080	0.0:0.0:0.0:1.0	.	89;107	Q9NR97;D1CS70	TLR8_HUMAN;.	P	89;107	ENSP00000218032:L89P;ENSP00000312082:L107P	ENSP00000218032:L89P	L	+	2	0	TLR8	12847346	1.000000	0.71417	0.002000	0.10522	0.863000	0.49368	6.193000	0.72075	1.745000	0.51790	0.425000	0.28330	CTC	TLR8	-	NULL	ENSG00000101916		0.418	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	-	0	53	0	T	NM_016610		12937425	1	tier1	-	no_errors	ENST00000218032	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.942	C	C	12937425	T	C	12937425	3	2	78	1	0	0	0	0	1	0	0	0	16004	1551	54	4	272	4	TLR8	23	12937425	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09		12937425	142333135	270	20638											
MAGEB2	4113	genome.wustl.edu	37	chrX	30237369	30237369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctactgaggaagagatctgGgaattcctgaatatgttggg	11	11	14	5	0	1	3	0	2	1	1	2	6	2	5	1	3	1	2	1	3	5	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:30237369G>T	ENST00000378988.4	+	2	773	c.672G>T	c.(670-672)tgG>tgT	p.W224C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	224	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AAGAGATCTGGGAATTCCTGA	0.488																																																	0													70	61	64					X																	30237369		2202	4300	6502	SO:0001583	missense	0			AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"DSS/AHC critical interval MAGE superfamily 6", "melanoma-associated antigen B2", "cancer/testis antigen family 3, member 2"	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.672G>T	X.37:g.30237369G>T	ENSP00000368273:p.Trp224Cys		O75860	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.W224C	ENST00000378988.4	37	c.672	CCDS14219.1	X	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482877	0.63962	.	.	ENSG00000099399	ENST00000378988	T	0.05925	3.37	3.27	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	H	0.97659	4.05	0.36048	D	0.840551	D	0.89917	1.0	D	0.97110	1.0	T	0.57568	-0.7789	10	0.87932	D	0	.	9.2222	0.37384	0.0:0.0:1.0:0.0	.	224	O15479	MAGB2_HUMAN	C	224	ENSP00000368273:W224C	ENSP00000368273:W224C	W	+	3	0	MAGEB2	30147290	1.000000	0.71417	0.383000	0.26132	0.903000	0.53119	3.923000	0.56469	1.914000	0.55421	0.436000	0.28706	TGG	MAGEB2	-	pfam_MAGE,pfscan_MAGE	ENSG00000099399		0.488	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	HGNC	protein_coding	OTTHUMT00000056157.1	-	0	58	0	G	NM_002364		30237369	1	tier1	-	no_errors	ENST00000378988	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.358	T	T	30237369	G	T	30237369	3	4	78	1	0	0	0	0	1	0	0	0	9214	1241	43	3	674	3	MAGEB2	23	30237369	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	17299944	30237369	125033191	271	20639											
TAB3	257397	genome.wustl.edu	37	chrX	30873574	30873574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttaatatgtaaaaggcGatttctattcatcctattgt	12	16	7	6	1	2	0	1	0	1	0	3	1	3	0	1	2	0	2	1	2	6	8	rs141569817		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:30873574G>T	ENST00000378933.1	-	3	385	c.208C>A	c.(208-210)Cgc>Agc	p.R70S	TAB3_ENST00000288422.2_Missense_Mutation_p.R70S|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.R70S|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.R70S	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	70					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGTAAAAGGCGATTTCTATTC	0.433																																					Pancreas(164;1598 1985 29022 43301 49529)												0													69	58	62					X																	30873574		2202	4300	6502	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.208C>A	X.37:g.30873574G>T	ENSP00000368215:p.Arg70Ser		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.R70S	ENST00000378933.1	37	c.208	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001043	0.35320	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.67	5.44	5.44	0.79542	.	0.203995	0.53938	D	0.000056	T	0.48390	0.1497	N	0.03608	-0.345	0.38983	D	0.958986	B;B	0.12630	0.004;0.006	B;B	0.11329	0.006;0.004	T	0.50841	-0.8780	10	0.48119	T	0.1	-2.552	12.6129	0.56560	0.0:0.0:0.824:0.176	.	70;70	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	S	70	ENSP00000368215:R70S;ENSP00000368212:R70S;ENSP00000288422:R70S;ENSP00000368214:R70S	ENSP00000288422:R70S	R	-	1	0	TAB3	30783495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.876000	0.69667	2.407000	0.81776	0.600000	0.82982	CGC	TAB3	-	NULL	ENSG00000157625		0.433	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	-	0	60	0	G	NM_152787		30873574	-1	tier1	-	no_errors	ENST00000288422	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	30873574	G	T	30873574	3	4	78	1	0	0	0	0	1	0	0	0	15544	1058	37	2	1954	2	TAB3	23	30873574	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	636205	30873574	124396986	272	20640											
TAB3	257397	genome.wustl.edu	37	chrX	30873600	30873600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcatcctattgtcatctGgactatggtattccatatat	10	18	5	8	0	3	0	2	0	1	0	5	1	5	1	2	2	0	1	2	2	6	9			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:30873600G>T	ENST00000378933.1	-	3	359	c.182C>A	c.(181-183)cCa>cAa	p.P61Q	TAB3_ENST00000288422.2_Missense_Mutation_p.P61Q|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.P61Q|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.P61Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	61					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATTGTCATCTGGACTATGGTA	0.408																																					Pancreas(164;1598 1985 29022 43301 49529)												0													50	46	48					X																	30873600		2202	4300	6502	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"TAK1 binding protein 3"	300480	"mitogen-activated protein kinase kinase kinase 7 interacting protein 3"	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.182C>A	X.37:g.30873600G>T	ENSP00000368215:p.Pro61Gln		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.P61Q	ENST00000378933.1	37	c.182	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059334	0.55325	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.44	5.44	0.79542	.	0.051598	0.85682	D	0.000000	T	0.74906	0.3778	L	0.38175	1.15	0.58432	D	0.99999	D;D	0.67145	0.996;0.994	D;P	0.63877	0.919;0.832	T	0.77078	-0.2721	10	0.72032	D	0.01	-3.3229	12.0151	0.53309	0.0815:0.0:0.9185:0.0	.	61;61	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	Q	61	ENSP00000368215:P61Q;ENSP00000368212:P61Q;ENSP00000288422:P61Q;ENSP00000368214:P61Q	ENSP00000288422:P61Q	P	-	2	0	TAB3	30783521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.637000	0.83313	2.407000	0.81776	0.600000	0.82982	CCA	TAB3	-	NULL	ENSG00000157625		0.408	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1		0	56	0	G	NM_152787		30873600	-1			no_errors	ENST00000288422	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	30873600	G	T	30873600	3	4	78	1	0	0	0	0	1	0	0	0	15544	1348	47	3	1980	3	TAB3	23	30873600	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	26	30873600	124396960	273	20641											
AKAP4	8852	genome.wustl.edu	37	chrX	49957183	49957183	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttatttgccgaggctgcTtgttcttccaactcagcaag	7	13	10	11	1	2	0	1	0	1	0	3	1	3	0	2	2	4	5	2	2	3	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:49957183T>G	ENST00000376056.2	-	5	2304	c.2154A>C	c.(2152-2154)caA>caC	p.Q718H	AKAP4_ENST00000376064.3_Missense_Mutation_p.Q718H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.Q344H|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q727H					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCGAGGCTGCTTGTTCTTCCA	0.453																																																	0													100	73	82					X																	49957183		2203	4300	6503	SO:0001583	missense	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2154A>C	X.37:g.49957183T>G	ENSP00000365224:p.Gln718His			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.Q727H	ENST00000376056.2	37	c.2181	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	T	12.12	1.841932	0.32513	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	4.82	3.64	0.41730	A-kinase anchor 110kDa, C-terminal (1);	0.123545	0.36893	N	0.002351	T	0.19525	0.0469	M	0.63428	1.95	0.27636	N	0.947869	P;D	0.67145	0.918;0.996	P;D	0.66196	0.761;0.942	T	0.04065	-1.0980	9	.	.	.	-9.9623	6.4437	0.21865	0.0:0.116:0.0:0.884	.	727;344	Q5JQC9;A6ND82	AKAP4_HUMAN;.	H	718;344;727;718	ENSP00000365224:Q718H;ENSP00000365226:Q344H;ENSP00000351327:Q727H;ENSP00000365232:Q718H	.	Q	-	3	2	AKAP4	49843923	0.174000	0.23070	0.904000	0.35570	0.436000	0.31835	0.212000	0.17497	0.538000	0.28769	0.430000	0.28490	CAA	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0	14	0	T	NM_003886		49957183	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.985	G	G	49957183	T	G	49957183	3	3	78	1	0	0	0	0	1	0	0	0	453	1606	56	4	391	4	AKAP4	23	49957183	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	19083583	49957183	105313377	274	20642											
HUWE1	10075	genome.wustl.edu	37	chrX	53561025	53561025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctcgatggatctgaaacTtctgaatgccattcatgcct	10	13	7	11	1	4	2	1	2	3	0	5	4	4	3	2	1	3	0	2	1	2	2			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:53561025T>C	ENST00000342160.3	-	82	13422	c.12965A>G	c.(12964-12966)aAg>aGg	p.K4322R	HUWE1_ENST00000262854.6_Missense_Mutation_p.K4322R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4322	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GATCTGAAACTTCTGAATGCC	0.502																																																	0													153	115	128					X																	53561025		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12965A>G	X.37:g.53561025T>C	ENSP00000340648:p.Lys4322Arg		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.K4322R	ENST00000342160.3	37	c.12965	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	T	13.39	2.222504	0.39300	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.59502	0.26;0.26	5.42	5.42	0.78866	HECT (4);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	N	0.25992	0.78	0.80722	D	1	D;P	0.53312	0.959;0.949	D;D	0.69654	0.965;0.942	T	0.58092	-0.7697	10	0.22706	T	0.39	.	13.6929	0.62559	0.0:0.0:0.0:1.0	.	4322;4306	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	R	4322	ENSP00000340648:K4322R;ENSP00000262854:K4322R	ENSP00000262854:K4322R	K	-	2	0	HUWE1	53577750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.154000	0.77437	1.946000	0.56461	0.430000	0.28490	AAG	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.502	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	86	0	T	XM_497119		53561025	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	C	C	53561025	T	C	53561025	3	2	78	1	0	0	0	0	1	0	0	0	7488	1609	56	4	167	4	HUWE1	23	53561025	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	3603842	53561025	101709535	275	20643											
RRAGB	10325	genome.wustl.edu	37	chrX	55757975	55757975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatgccaaaatattttgcTtggtacacaaaatggatctg	14	12	8	7	0	1	1	0	0	1	1	1	2	1	2	1	2	3	2	1	2	6	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:55757975T>G	ENST00000262850.7	+	6	999	c.556T>G	c.(556-558)Ttg>Gtg	p.L186V	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000374941.4_Missense_Mutation_p.L158V	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						AATATTTTGCTTGGTACACAA	0.448																																																	0													48	38	41					X																	55757975		2202	4300	6502	SO:0001583	missense	0			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.556T>G	X.37:g.55757975T>G	ENSP00000262850:p.Leu186Val			Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.L186V	ENST00000262850.7	37	c.556	CCDS14372.1	X	.	.	.	.	.	.	.	.	.	.	T	16.99	3.274480	0.59649	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.72835	-0.69;-0.56	4.74	2.03	0.26663	.	0.000000	0.64402	D	0.000002	T	0.78349	0.4269	M	0.67700	2.07	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76372	-0.2983	10	0.87932	D	0	-9.4462	6.0799	0.19935	0.0:0.2937:0.0:0.7063	.	158;186	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	V	158;120;186	ENSP00000364077:L158V;ENSP00000410630:L120V	ENSP00000262850:L186V	L	+	1	2	RRAGB	55774700	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.024000	0.49674	0.609000	0.30018	-0.424000	0.05967	TTG	RRAGB	-	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	ENSG00000083750		0.448	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGB	HGNC	protein_coding	OTTHUMT00000056878.1	-	0	88	0	T	NM_016656		55757975	1	tier1	-	no_errors	ENST00000262850	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	G	G	55757975	T	G	55757975	3	3	78	1	0	0	0	0	1	0	0	0	13718	1606	56	4	578	4	RRAGB	23	55757975	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	2196950	55757975	99512585	276	20644											
MSN	4478	genome.wustl.edu	37	chrX	64958409	64958409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaatggcagagctgaCagctcgaatctcccagctgg	10	8	12	11	1	1	2	0	1	1	1	3	4	1	3	1	3	3	4	1	3	2	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:64958409C>G	ENST00000360270.5	+	11	1446	c.1274C>G	c.(1273-1275)aCa>aGa	p.T425R		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	425					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCAGAGCTGACAGCTCGAATC	0.557			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													57	50	52					X																	64958409		2203	4299	6502	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1274C>G	X.37:g.64958409C>G	ENSP00000353408:p.Thr425Arg			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.T425R	ENST00000360270.5	37	c.1274	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	c	17.33	3.362093	0.61403	.	.	ENSG00000147065	ENST00000360270	D	0.83419	-1.72	4.67	4.67	0.58626	Ezrin/radixin/moesin, C-terminal (1);	0.183995	0.56097	D	0.000022	D	0.82614	0.5075	M	0.73598	2.24	0.80722	D	1	B	0.12013	0.005	B	0.18561	0.022	T	0.79969	-0.1579	10	0.38643	T	0.18	.	15.4828	0.75542	0.0:1.0:0.0:0.0	.	425	P26038	MOES_HUMAN	R	425	ENSP00000353408:T425R	ENSP00000353408:T425R	T	+	2	0	MSN	64875134	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.564000	0.82326	2.306000	0.77630	0.591000	0.81541	ACA	MSN	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000147065		0.557	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	-	0	85	0	C	NM_002444		64958409	1	tier1	-	no_errors	ENST00000360270	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	G	G	64958409	C	G	64958409	3	3	78	1	0	0	0	0	1	0	0	0	9923	478	17	5	1316	5	MSN	23	64958409	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	9200434	64958409	90312151	277	20645											
KIAA2022	340533	genome.wustl.edu	37	chrX	73961054	73961054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagggtactgcagtcccacTtgattttttccacactgtcc	9	13	7	12	0	0	1	0	1	0	0	3	1	3	1	3	1	2	2	3	1	2	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:73961054T>C	ENST00000055682.6	-	3	3949	c.3338A>G	c.(3337-3339)aAg>aGg	p.K1113R		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1113					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGTCCCACTTGATTTTTTC	0.438																																																	0													78	73	74					X																	73961054		2203	4300	6503	SO:0001583	missense	0				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"XLMR-related protein, neurite extension"	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3338A>G	X.37:g.73961054T>C	ENSP00000055682:p.Lys1113Arg		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	NULL	p.K1113R	ENST00000055682.6	37	c.3338	CCDS35337.1	X	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646606	0.67358	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.37058	1.22;1.22	5.28	5.28	0.74379	.	0.147314	0.64402	D	0.000010	T	0.47192	0.1432	L	0.29908	0.895	0.50632	D	0.999882	D	0.76494	0.999	D	0.68765	0.96	T	0.49000	-0.8984	10	0.62326	D	0.03	-12.7654	14.3058	0.66384	0.0:0.0:0.0:1.0	.	1113	Q5QGS0	K2022_HUMAN	R	1113	ENSP00000362567:K1113R;ENSP00000055682:K1113R	ENSP00000055682:K1113R	K	-	2	0	KIAA2022	73877779	1.000000	0.71417	0.995000	0.50966	0.810000	0.45777	7.698000	0.84413	1.756000	0.51951	0.486000	0.48141	AAG	KIAA2022	-	NULL	ENSG00000050030		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2022	HGNC	protein_coding	OTTHUMT00000057270.2	-	0	73	0	T	NM_001008537		73961054	-1	tier1	-	no_errors	ENST00000055682	ensembl	human	known	74_37	missense	20.24	67	17	SNP	1.000	C	C	73961054	T	C	73961054	3	2	78	1	0	0	0	0	1	0	0	0	8296	1609	56	4	1220	4	KIAA2022	23	73961054	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	9002645	73961054	81309506	278	20646											
HDX	139324	genome.wustl.edu	37	chrX	83724243	83724243	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggagtagggaagcatttTtacagtgtgctacttgtctt	9	15	11	6	0	1	0	0	0	1	0	1	2	1	2	0	2	4	3	0	2	5	8			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:83724243T>G	ENST00000297977.5	-	3	599	c.488A>C	c.(487-489)aAa>aCa	p.K163T	HDX_ENST00000506585.2_Missense_Mutation_p.K105T|HDX_ENST00000373177.2_Missense_Mutation_p.K163T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	163						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGAAGCATTTTTACAGTGTGC	0.358																																					Pancreas(53;231 1169 36156 43751 51139)												0													204	168	180					X																	83724243		2203	4300	6503	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.488A>C	X.37:g.83724243T>G	ENSP00000297977:p.Lys163Thr		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.K163T	ENST00000297977.5	37	c.488	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	T	15.11	2.737154	0.49045	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.61627	1.68;1.23;1.68;0.09	4.9	4.9	0.64082	.	0.249746	0.40728	N	0.001039	T	0.70046	0.3179	L	0.51422	1.61	0.46609	D	0.999121	D	0.76494	0.999	D	0.78314	0.991	T	0.73421	-0.3988	10	0.87932	D	0	-12.4331	13.8759	0.63653	0.0:0.0:0.0:1.0	.	163	Q7Z353	HDX_HUMAN	T	163;105;163;105	ENSP00000297977:K163T;ENSP00000362272:K105T;ENSP00000423670:K163T;ENSP00000387790:K105T	ENSP00000297977:K163T	K	-	2	0	HDX	83610899	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.050000	0.64251	1.920000	0.55613	0.417000	0.27973	AAA	HDX	-	NULL	ENSG00000165259		0.358	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0	51	0	T	NM_144657		83724243	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	missense	7.87	82	7	SNP	1.000	G	G	83724243	T	G	83724243	3	3	78	1	0	0	0	0	1	0	0	0	7053	1841	64	4	1616	4	HDX	23	83724243	Missense_Mutation	SNP	T	TCGA-L5-A893-01A-11D-A36J-09	9763189	83724243	71546317	279	20647											
FAM133A	286499	genome.wustl.edu	37	chrX	92964531	92964531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agattatctaaatcgaccaaGacccacctgggaagaagtaa	17	7	8	9	1	1	3	0	0	1	3	2	5	1	4	3	1	0	1	3	1	7	3			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:92964531G>A	ENST00000355813.5	+	4	639	c.113G>A	c.(112-114)aGa>aAa	p.R38K	FAM133A_ENST00000332647.4_Missense_Mutation_p.R38K|FAM133A_ENST00000538690.1_Missense_Mutation_p.R38K|FAM133A_ENST00000322139.4_Missense_Mutation_p.R38K	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	38										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AATCGACCAAGACCCACCTGG	0.373																																																	0													25	25	25					X																	92964531		2187	4284	6471	SO:0001583	missense	0			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"cancer/testis antigen 115"						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.113G>A	X.37:g.92964531G>A	ENSP00000348067:p.Arg38Lys			Missense_Mutation	SNP	NULL	p.R38K	ENST00000355813.5	37	c.113	CCDS14466.1	X	.	.	.	.	.	.	.	.	.	.	g	13.49	2.251414	0.39797	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	3.27	3.27	0.37495	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.83603	2.65	0.25157	N	0.990385	D	0.59767	0.986	P	0.54706	0.759	T	0.52056	-0.8626	10	0.66056	D	0.02	-10.8439	9.1631	0.37035	0.0:0.0:1.0:0.0	.	38	Q8N9E0	F133A_HUMAN	K	38	ENSP00000441389:R38K;ENSP00000348067:R38K;ENSP00000318974:R38K;ENSP00000362169:R38K	ENSP00000318974:R38K	R	+	2	0	FAM133A	92851187	1.000000	0.71417	0.954000	0.39281	0.542000	0.35054	5.422000	0.66453	1.898000	0.54952	0.591000	0.81541	AGA	FAM133A	-	NULL	ENSG00000179083		0.373	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1	-	0	148	0	G	NM_173698		92964531	1	tier1	-	no_errors	ENST00000322139	ensembl	human	known	74_37	missense	12.36	78	11	SNP	0.996	A	A	92964531	G	A	92964531	3	1	78	1	0	0	0	0	1	0	0	0	5462	942	33	3	115	3	FAM133A	23	92964531	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	9240288	92964531	62306029	280	20648											
DRP2	1821	genome.wustl.edu	37	chrX	100509876	100509876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccgatgtggccacacGccgacacacactcccgaatt	9	7	7	18	4	0	0	0	0	0	0	2	3	2	0	5	1	0	0	5	1	1	2	rs201156733		TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:100509876G>A	ENST00000395209.3	+	19	2670	c.2143G>A	c.(2143-2145)Gcc>Acc	p.A715T	DRP2_ENST00000541709.1_Missense_Mutation_p.A637T|DRP2_ENST00000402866.1_Missense_Mutation_p.A715T|DRP2_ENST00000538510.1_Missense_Mutation_p.A715T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	715					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGCCACACGCCGACACACA	0.582																																																	0													124	100	108					X																	100509876		2203	4300	6503	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2143G>A	X.37:g.100509876G>A	ENSP00000378635:p.Ala715Thr		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.A715T	ENST00000395209.3	37	c.2143	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	11.06	1.526424	0.27299	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.82	3.88	0.44766	.	0.173376	0.49916	D	0.000128	D	0.86297	0.5899	M	0.65975	2.015	0.50813	D	0.999893	B	0.31837	0.342	B	0.26202	0.067	D	0.85983	0.1484	10	0.40728	T	0.16	-7.7831	14.2835	0.66228	0.0:0.0:0.8404:0.1596	.	715	Q13474	DRP2_HUMAN	T	715;715;637;715	ENSP00000385038:A715T;ENSP00000378635:A715T;ENSP00000444752:A637T;ENSP00000441051:A715T	ENSP00000378635:A715T	A	+	1	0	DRP2	100396532	1.000000	0.71417	0.888000	0.34837	0.416000	0.31233	7.579000	0.82511	2.215000	0.71742	0.600000	0.82982	GCC	DRP2	-	pirsf_Dystrophin-related_2	ENSG00000102385		0.582	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	-	0	90	0	G	NM_001939		100509876	1	tier1	rs201156733	no_errors	ENST00000395209	ensembl	human	known	74_37	missense	14.00	86	14	SNP	0.876	A	A	100509876	G	A	100509876	3	1	78	1	0	0	0	0	1	0	0	0	4778	1087	38	1	2209	1	DRP2	23	100509876	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	7545345	100509876	54760684	281	20649											
SERPINA7	6906	genome.wustl.edu	37	chrX	105280573	105280573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttggagaagtcggtagaAaagacttcagtctcatagag	14	10	12	5	1	2	4	2	0	1	4	4	5	2	4	0	2	0	2	0	2	5	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:105280573A>T	ENST00000327674.4	-	1	812	c.477T>A	c.(475-477)ttT>ttA	p.F159L	SERPINA7_ENST00000372563.1_Missense_Mutation_p.F159L|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	159					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTCGGTAGAAAAGACTTCAG	0.438																																																	0													164	153	156					X																	105280573		2203	4300	6503	SO:0001583	missense	0			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"Serine (or cysteine) peptidase inhibitors"	11583	protein-coding gene	gene with protein product	"thyroxin-binding globulin", "thyroxine-binding globulin", "alpha-1 antiproteinase, antitrypsin"	314200	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.477T>A	X.37:g.105280573A>T	ENSP00000329374:p.Phe159Leu		D3DUX1	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F159L	ENST00000327674.4	37	c.477	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	A	9.389	1.074956	0.20227	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.84070	-1.8;-1.8	4.7	-4.14	0.03892	Serpin domain (3);	0.156200	0.44688	N	0.000436	T	0.71634	0.3363	M	0.65677	2.01	0.28461	N	0.915896	B	0.31435	0.323	B	0.31869	0.137	T	0.60657	-0.7220	10	0.45353	T	0.12	.	0.1626	0.00105	0.3229:0.2392:0.1683:0.2696	.	159	P05543	THBG_HUMAN	L	159	ENSP00000329374:F159L;ENSP00000361644:F159L	ENSP00000329374:F159L	F	-	3	2	SERPINA7	105167229	0.787000	0.28750	0.017000	0.16124	0.349000	0.29174	0.935000	0.28924	-0.744000	0.04778	-0.377000	0.06932	TTT	SERPINA7	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000123561		0.438	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	-	0	59	0	A	NM_000354		105280573	-1	tier1	-	no_errors	ENST00000327674	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.576	T	T	105280573	A	T	105280573	3	4	78	1	0	0	0	0	1	0	0	0	14139	11	1	5	786	5	SERPINA7	23	105280573	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	4770697	105280573	49989987	282	20650											
MID2	11043	genome.wustl.edu	37	chrX	107170088	107170088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattatgacaacaatatgCtgtctttctatgacccagct	11	14	7	9	0	2	2	0	2	2	0	2	3	2	3	1	1	3	2	1	1	5	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:107170088C>A	ENST00000262843.6	+	10	2541	c.1993C>A	c.(1993-1995)Ctg>Atg	p.L665M	MID2_ENST00000443968.2_Missense_Mutation_p.L635M|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	665	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAACAATATGCTGTCTTTCTA	0.443																																																	0													213	155	175					X																	107170088		2203	4300	6503	SO:0001583	missense	0				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1993C>A	X.37:g.107170088C>A	ENSP00000262843:p.Leu665Met		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L665M	ENST00000262843.6	37	c.1993	CCDS14532.2	X	.	.	.	.	.	.	.	.	.	.	C	15.69	2.908617	0.52439	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.71579	-0.58;-0.58	5.37	2.66	0.31614	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000001	D	0.83280	0.5220	M	0.91249	3.19	0.49687	D	0.999812	D;P	0.57257	0.979;0.954	D;P	0.63283	0.913;0.851	T	0.82831	-0.0263	10	0.87932	D	0	.	7.7471	0.28875	0.0:0.7166:0.0:0.2834	.	665;635	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	M	665;635	ENSP00000262843:L665M;ENSP00000413976:L635M	ENSP00000262843:L665M	L	+	1	2	MID2	107056744	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.842000	0.48230	0.486000	0.27676	0.596000	0.82720	CTG	MID2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000080561		0.443	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	-	0	97	0	C	NM_012216		107170088	1	tier1	-	no_errors	ENST00000262843	ensembl	human	known	74_37	missense	23.53	65	20	SNP	1.000	A	A	107170088	C	A	107170088	3	1	78	1	0	0	0	0	1	0	0	0	9616	796	28	3	2031	3	MID2	23	107170088	Missense_Mutation	SNP	C	TCGA-L5-A893-01A-11D-A36J-09	1889515	107170088	48100472	283	20651											
IL13RA2	3598	genome.wustl.edu	37	chrX	114239844	114239844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaccaaatggtagccaGaaacgtagcaaagttttctt	16	10	8	7	1	1	2	0	1	1	1	1	2	1	2	2	1	4	4	2	1	6	5			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:114239844G>T	ENST00000371936.1	-	10	1281	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.F344L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	344					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						ATGGTAGCCAGAAACGTAGCA	0.363																																																	0													73	70	71					X																	114239844		2203	4300	6503	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"Interleukins and interleukin receptors", "CD molecules"	5975	protein-coding gene	gene with protein product	"cancer/testis antigen 19"	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1032C>A	X.37:g.114239844G>T	ENSP00000361004:p.Phe344Leu		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.F344L	ENST00000371936.1	37	c.1032	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	G	4.734	0.136474	0.09032	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.89123	-2.47;-2.47	3.83	0.0805	0.14421	.	3.375640	0.00604	N	0.000387	D	0.84224	0.5425	L	0.56769	1.78	0.09310	N	1	B	0.20780	0.048	B	0.17979	0.02	T	0.65080	-0.6255	10	0.02654	T	1	-9.9183	6.3178	0.21200	0.4888:0.0:0.5112:0.0	.	344	Q14627	I13R2_HUMAN	L	344	ENSP00000361004:F344L;ENSP00000243213:F344L	ENSP00000243213:F344L	F	-	3	2	IL13RA2	114146100	0.033000	0.19621	0.002000	0.10522	0.005000	0.04900	-0.029000	0.12329	-0.108000	0.12066	0.513000	0.50165	TTC	IL13RA2	-	NULL	ENSG00000123496		0.363	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	-	0	181	0	G	NM_000640		114239844	-1	tier1	-	no_errors	ENST00000243213	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.002	T	T	114239844	G	T	114239844	3	4	78	1	0	0	0	0	1	0	0	0	7657	933	33	3	118	3	IL13RA2	23	114239844	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	7069756	114239844	41030716	284	20652											
KLHL13	90293	genome.wustl.edu	37	chrX	117043737	117043737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttctcatgaaatccaccGtttgcacgtaattaatgagc	12	12	7	10	2	1	2	1	2	1	0	3	2	2	2	2	0	2	4	2	0	3	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:117043737G>A	ENST00000262820.3	-	5	1802	c.893C>T	c.(892-894)aCg>aTg	p.T298M	KLHL13_ENST00000371878.1_Missense_Mutation_p.T247M|KLHL13_ENST00000469946.1_Missense_Mutation_p.T247M|KLHL13_ENST00000540167.1_Missense_Mutation_p.T282M|KLHL13_ENST00000545703.1_Missense_Mutation_p.T256M|KLHL13_ENST00000539496.1_Missense_Mutation_p.T301M|KLHL13_ENST00000371882.1_Missense_Mutation_p.T247M|KLHL13_ENST00000371876.1_Missense_Mutation_p.T247M|KLHL13_ENST00000541812.1_Missense_Mutation_p.T282M	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	298					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAAATCCACCGTTTGCACGTA	0.428													G|||	1	0.000264901	0	0	3775	,	,		17788	0		0	False		,,,				2504	0.001																0													118	96	103					X																	117043737		2203	4300	6503	SO:0001583	missense	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"Kelch-like", "BTB/POZ domain containing"	22931	protein-coding gene	gene with protein product		300655	"BTB and kelch domain containing 2, KIAA1309", "kelch-like 13 (Drosophila)"	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.893C>T	X.37:g.117043737G>A	ENSP00000262820:p.Thr298Met		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T301M	ENST00000262820.3	37	c.902	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230348	0.58777	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71461	-0.56;-0.56;-0.56;-0.56;-0.48;-0.48;-0.57;-0.57;-0.56;-0.56	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	L	0.32530	0.975	0.80722	D	1	P;D;D;P	0.76494	0.938;0.999;0.999;0.898	B;P;D;B	0.65233	0.325;0.884;0.933;0.174	T	0.79533	-0.1764	10	0.66056	D	0.02	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	282;301;292;298	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	M	247;247;247;247;282;282;301;298;256;247	ENSP00000360949:T247M;ENSP00000360943:T247M;ENSP00000360945:T247M;ENSP00000412640:T247M;ENSP00000444450:T282M;ENSP00000441029:T282M;ENSP00000443191:T301M;ENSP00000262820:T298M;ENSP00000440707:T256M;ENSP00000419803:T247M	ENSP00000262820:T298M	T	-	2	0	KLHL13	116927765	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	9.657000	0.98554	2.233000	0.73108	0.594000	0.82650	ACG	KLHL13	-	pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.428	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		-	0	57	0	G	NM_033495		117043737	-1	tier1	-	no_errors	ENST00000539496	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	A	A	117043737	G	A	117043737	3	1	78	1	0	0	0	0	1	0	0	0	8396	1145	40	1	1086	1	KLHL13	23	117043737	Missense_Mutation	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	2803893	117043737	38226823	285	20653											
ATP11C	286410	genome.wustl.edu	37	chrX	138884448	138884448	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgctcggagggtatcGatggattctgctgtacacag	8	12	13	8	2	1	0	0	0	1	0	3	3	1	2	0	3	4	5	0	3	2	4			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:138884448G>T	ENST00000327569.3	-	7	713	c.615C>A	c.(613-615)atC>atA	p.I205I	ATP11C_ENST00000370543.1_Silent_p.I205I|ATP11C_ENST00000359686.2_Silent_p.I205I|ATP11C_ENST00000370557.1_Silent_p.I202I|ATP11C_ENST00000361648.2_Silent_p.I205I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	205					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.I205I(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGTATCGATGGATTCTG	0.398																																																	1	Substitution - coding silent(1)	large_intestine(1)											274	221	239					X																	138884448		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.615C>A	X.37:g.138884448G>T			Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.I205	ENST00000327569.3	37	c.615	CCDS14668.1	X																																																																																			ATP11C	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000101974		0.398	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	-	0	65	0	G	NM_173694		138884448	-1	tier1	-	no_errors	ENST00000327569	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.996	T	T	138884448	G	T	138884448	2	4	78	1	0	0	0	0	0	0	0	1	1122	1048	37	2		2	ATP11C	23	138884448	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	21840711	138884448	16386112	286	20654											
HMGB3	3149	genome.wustl.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)											50	48	49					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	0			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A			O95556|Q6NS40	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E192	ENST00000325307.7	37	c.576	CCDS35428.1	X																																																																																			HMGB3	-	NULL	ENSG00000029993		0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	HGNC	protein_coding	OTTHUMT00000060867.1	-	0	58	0	G	NM_005342		150156360	1	tier1	-	no_errors	ENST00000325307	ensembl	human	known	74_37	silent	11.90	37	5	SNP	0.985	A	A	150156360	G	A	150156360	2	1	78	1	0	0	0	0	0	0	0	1	7254	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-L5-A893-01A-11D-A36J-09	11271912	150156360	5114200	287	20655											
IL9R	3581	genome.wustl.edu	37	chrX	155234144	155234144	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggccactgcatcctgAcctggagcatcagtcctgcc	6	10	10	15	0	2	1	1	1	1	0	4	2	4	2	5	2	3	3	5	2	0	1			TCGA-L5-A893-01A-11D-A36J-09	TCGA-L5-A893-11A-21D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	814014d1-4227-42ae-acea-0a97cd792ff3	84ca4bf4-8d3c-42c4-8374-4fd8f95f30f6	g.chrX:155234144A>C	ENST00000244174.5	+	5	672	c.493A>C	c.(493-495)Acc>Ccc	p.T165P	IL9R_ENST00000369423.2_Missense_Mutation_p.T200P|IL9R_ENST00000424344.3_Missense_Mutation_p.T144P|IL9R_ENST00000540897.1_Missense_Mutation_p.T190P	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	165	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGCATCCTGACCTGGAGCAT	0.552																																																	0													130	109	116					X																	155234144		2203	4296	6499	SO:0001583	missense	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.493A>C	X.37:g.155234144A>C	ENSP00000244174:p.Thr165Pro		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.T165P	ENST00000244174.5	37	c.493	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	17.11	3.305188	0.60305	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	1.44	1.44	0.22558	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.561911	0.16800	N	0.199038	T	0.76593	0.4009	.	.	.	0.09310	N	1	D;D;D	0.76494	0.996;0.999;0.983	D;D;P	0.67548	0.919;0.952;0.551	T	0.62849	-0.6767	9	0.59425	D	0.04	-15.363	4.5949	0.12325	1.0:0.0:0.0:0.0	.	144;165;200	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	P	165;144;144;200;190	ENSP00000244174:T165P;ENSP00000388918:T144P;ENSP00000358431:T200P;ENSP00000438112:T190P	ENSP00000244174:T165P	T	+	1	0	IL9R	154887338	0.685000	0.27652	0.842000	0.33263	0.742000	0.42306	0.658000	0.24979	0.832000	0.34804	0.238000	0.17879	ACC	IL9R	-	superfamily_Fibronectin_type3	ENSG00000124334		0.552	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0	115	0	A	NM_002186		155234144	1	tier1	-	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	21.77	97	27	SNP	0.824	C	C	155234144	A	C	155234144	3	2	78	1	0	0	0	0	1	0	0	0	7735	275	10	4	511	4	IL9R	23	155234144	Missense_Mutation	SNP	A	TCGA-L5-A893-01A-11D-A36J-09	5077784	155234144	36416	288	20656											
SLC25A33	84275	genome.wustl.edu	37	chr1	9640067	9640067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcgttacgtttaccagAccgaaggcattcgtggcttc	7	12	11	11	4	0	1	0	0	0	1	3	2	0	1	2	2	3	5	2	2	3	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:9640067A>G	ENST00000302692.6	+	6	748	c.538A>G	c.(538-540)Acc>Gcc	p.T180A		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	180					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CGTTTACCAGACCGAAGGCAT	0.418																																																	0													91	78	83					1																	9640067		2203	4300	6503	SO:0001583	missense	0			AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"Solute carriers"	29681	protein-coding gene	gene with protein product		610816	"solute carrier family 25, member 33"			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.538A>G	1.37:g.9640067A>G	ENSP00000306328:p.Thr180Ala			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.T180A	ENST00000302692.6	37	c.538	CCDS103.1	1	.	.	.	.	.	.	.	.	.	.	A	12.24	1.878569	0.33162	.	.	ENSG00000171612	ENST00000302692	T	0.78924	-1.22	5.66	4.51	0.55191	Mitochondrial carrier domain (2);	0.095043	0.64402	D	0.000001	T	0.66877	0.2834	L	0.41492	1.28	0.40555	D	0.981154	B	0.09022	0.002	B	0.15870	0.014	T	0.59075	-0.7522	10	0.13470	T	0.59	-17.5294	11.4561	0.50183	0.8651:0.0:0.0:0.1349	.	180	Q9BSK2	S2533_HUMAN	A	180	ENSP00000306328:T180A	ENSP00000306328:T180A	T	+	1	0	SLC25A33	9562654	1.000000	0.71417	0.943000	0.38184	0.643000	0.38383	6.018000	0.70811	1.043000	0.40175	0.533000	0.62120	ACC	SLC25A33	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000171612		0.418	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A33	HGNC	protein_coding	OTTHUMT00000003851.2	-	0	39	0	A	NM_032315		9640067	1	tier1	-	no_errors	ENST00000302692	ensembl	human	known	74_37	missense	28.77	52	21	SNP	1.000	G	G	9640067	A	G	9640067	3	3	79	1	0	0	0	0	1	0	0	0	14542	275	10	4	560	4	SLC25A33	1	9640067	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09		9640067	239610554	1	20657											
TRIM62	55223	genome.wustl.edu	37	chr1	33613224	33613224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcgctttggcgagtcctGcagtggctgtgggtgcaagt	6	10	17	8	2	0	0	0	0	0	0	1	2	1	0	1	3	3	4	1	3	2	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:33613224G>A	ENST00000291416.5	-	5	1215	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	TRIM62_ENST00000543586.1_Nonsense_Mutation_p.Q207*	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	328	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCGAGTCCTGCAGTGGCTGT	0.627																																																	0													61	64	63					1																	33613224		2203	4299	6502	SO:0001587	stop_gained	0			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	25574	protein-coding gene	gene with protein product	"ductal epithelium-associated RING Chromosome 1"		"tripartite motif-containing 62"			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.982C>T	1.37:g.33613224G>A	ENSP00000291416:p.Gln328*		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q328*	ENST00000291416.5	37	c.982	CCDS376.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.693995	0.97768	.	.	ENSG00000116525	ENST00000291416;ENST00000373432;ENST00000373430;ENST00000543586	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.4143	0.87495	0.0:0.0:1.0:0.0	.	.	.	.	X	328;328;328;207	.	ENSP00000291416:Q328X	Q	-	1	0	TRIM62	33385811	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	6.286000	0.72665	2.721000	0.93114	0.491000	0.48974	CAG	TRIM62	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY	ENSG00000116525		0.627	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM62	HGNC	protein_coding	OTTHUMT00000011890.1	-	0	185	0	G	NM_018207		33613224	-1	tier1	-	no_errors	ENST00000291416	ensembl	human	known	74_37	nonsense	24.58	89	29	SNP	1.000	A	A	33613224	G	A	33613224	4	1	79	1	0	0	0	0	0	1	0	0	16585	1328	46	3	449	3	TRIM62	1	33613224	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	23973157	33613224	215637397	2	20658											
HMGB4	127540	genome.wustl.edu	37	chr1	34330011	34330011	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaagcccgataccaggaAgaaatgatgaattatgttgg	16	8	11	6	1	0	3	0	2	0	1	0	6	0	4	2	2	2	1	2	2	6	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:34330011A>C	ENST00000522796.1	+	4	2124	c.219A>C	c.(217-219)gaA>gaC	p.E73D	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.E73D			Q8WW32	HMGB4_HUMAN	high mobility group box 4	73						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GATACCAGGAAGAAATGATGA	0.478																																																	0													125	143	137					1																	34330011		2203	4300	6503	SO:0001583	missense	0				CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"High-mobility group / Canonical"	24954	protein-coding gene	gene with protein product			"high-mobility group box 4"				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.219A>C	1.37:g.34330011A>C	ENSP00000430919:p.Glu73Asp		B2R4X7|Q0QWA4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E73D	ENST00000522796.1	37	c.219	CCDS30668.1	1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682478	0.47991	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.14022	2.54;2.54	5.58	-2.09	0.07232	.	0.351458	0.27886	N	0.017458	T	0.08268	0.0206	N	0.21617	0.685	0.27685	N	0.946307	B	0.09022	0.002	B	0.10450	0.005	T	0.18398	-1.0338	10	0.52906	T	0.07	.	10.319	0.43753	0.5171:0.0:0.4829:0.0	.	73	B2R4X7	.	D	73	ENSP00000429214:E73D;ENSP00000430919:E73D	ENSP00000429214:E73D	E	+	3	2	HMGB4	34102598	1.000000	0.71417	0.106000	0.21319	0.916000	0.54674	1.014000	0.29950	-0.545000	0.06224	-0.363000	0.07495	GAA	HMGB4	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000176256		0.478	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMGB4	HGNC	protein_coding	OTTHUMT00000375773.1	-	0	38	0	A	NM_145205		34330011	1	tier1	-	no_errors	ENST00000519684	ensembl	human	known	74_37	missense	45.71	19	16	SNP	0.782	C	C	34330011	A	C	34330011	3	2	79	1	0	0	0	0	1	0	0	0	7255	69	3	4	221	4	HMGB4	1	34330011	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	716787	34330011	214920610	3	20659											
HMGB4	127540	genome.wustl.edu	37	chr1	34330225	34330225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagcacccttatgagcaaAgagtggctctcctgagagct	12	8	11	10	0	1	4	0	2	1	3	2	5	1	4	2	1	3	4	2	1	3	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:34330225A>G	ENST00000522796.1	+	4	2338	c.433A>G	c.(433-435)Aga>Gga	p.R145G	HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Missense_Mutation_p.R145G			Q8WW32	HMGB4_HUMAN	high mobility group box 4	145						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTATGAGCAAAGAGTGGCTCT	0.522																																																	0													56	61	60					1																	34330225		2203	4300	6503	SO:0001583	missense	0				CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"High-mobility group / Canonical"	24954	protein-coding gene	gene with protein product			"high-mobility group box 4"				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.433A>G	1.37:g.34330225A>G	ENSP00000430919:p.Arg145Gly		B2R4X7|Q0QWA4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R145G	ENST00000522796.1	37	c.433	CCDS30668.1	1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.868137	0.51588	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.94138	-3.36;-3.36	5.24	4.09	0.47781	.	0.302724	0.32533	N	0.005969	D	0.89660	0.6779	L	0.60957	1.885	0.28992	N	0.887995	P	0.39717	0.684	B	0.34536	0.185	D	0.85756	0.1346	10	0.87932	D	0	.	8.9829	0.35977	0.8131:0.1869:0.0:0.0	.	145	B2R4X7	.	G	145	ENSP00000429214:R145G;ENSP00000430919:R145G	ENSP00000429214:R145G	R	+	1	2	HMGB4	34102812	1.000000	0.71417	0.001000	0.08648	0.035000	0.12851	4.785000	0.62418	0.980000	0.38523	0.496000	0.49642	AGA	HMGB4	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000176256		0.522	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMGB4	HGNC	protein_coding	OTTHUMT00000375773.1	-	0	34	0	A	NM_145205		34330225	1	tier1	-	no_errors	ENST00000519684	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.881	G	G	34330225	A	G	34330225	3	3	79	1	0	0	0	0	1	0	0	0	7255	64	3	4	435	4	HMGB4	1	34330225	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	214	34330225	214920396	4	20660											
ZNF643	65243	genome.wustl.edu	37	chr1	40916691	40916691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcacctgggtgaagttgCgtcatccaaaggcggccacg	9	6	13	13	3	1	1	1	1	0	0	2	1	2	1	4	3	2	2	4	3	2	1	rs368099327		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:40916691C>T	ENST00000411995.2	+	2	433	c.58C>T	c.(58-60)Cgt>Tgt	p.R20C	ZFP69B_ENST00000361584.3_5'UTR|ZFP69B_ENST00000484445.1_Missense_Mutation_p.R20C	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	20					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGTGAAGTTGCGTCATCCAAA	0.587																																																	0																																										SO:0001583	missense	0			BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"Zinc fingers, C2H2-type", "-", "-", "-"	28053	protein-coding gene	gene with protein product			"zinc finger protein 643"	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.58C>T	1.37:g.40916691C>T	ENSP00000399664:p.Arg20Cys		Q5QPL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R20C	ENST00000411995.2	37	c.58	CCDS452.2	1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565802	0.27915	.	.	ENSG00000187801	ENST00000484445;ENST00000411995	T;T	0.04862	3.54;3.54	3.45	2.49	0.30216	Transcription regulator SCAN (2);	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41179	-0.9523	9	0.54805	T	0.06	.	7.7446	0.28862	0.2627:0.7373:0.0:0.0	.	20	Q9UJL9	ZN643_HUMAN	C	20	ENSP00000435907:R20C;ENSP00000399664:R20C	ENSP00000399664:R20C	R	+	1	0	ZNF643	40689278	0.024000	0.19004	0.996000	0.52242	0.301000	0.27625	-0.046000	0.11983	0.960000	0.38005	0.650000	0.86243	CGT	ZFP69B	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,pfscan_Tscrpt_reg_SCAN	ENSG00000187801		0.587	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	HGNC	protein_coding	OTTHUMT00000019078.2	-	0	48	0	C	NM_023070		40916691	1	tier1	-	no_errors	ENST00000411995	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.997	T	T	40916691	C	T	40916691	3	4	79	1	0	0	0	0	1	0	0	0	18107	768	27	1	60	1	ZNF643	1	40916691	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	6586466	40916691	208333930	5	20661											
IPP	3652	genome.wustl.edu	37	chr1	46193439	46193439	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagggctctgctatcactCcagcgacccccctgcaaccg	7	7	9	18	2	2	1	1	1	1	0	3	2	3	1	5	1	4	3	5	1	2	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:46193439C>T	ENST00000396478.3	-	5	1014	c.912G>A	c.(910-912)tgG>tgA	p.W304*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	304						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TGCTATCACTCCAGCGACCCC	0.448																																																	0													153	150	151					1																	46193439		2203	4300	6503	SO:0001587	stop_gained	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.912G>A	1.37:g.46193439C>T	ENSP00000379739:p.Trp304*		A2A6V4|D3DQ11|Q8N5C3	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.W304*	ENST00000396478.3	37	c.912	CCDS30702.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.613391	0.97705	.	.	ENSG00000197429	ENST00000359942;ENST00000396478	.	.	.	5.86	5.86	0.93980	.	0.262714	0.43579	D	0.000554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5632	0.99335	0.0:1.0:0.0:0.0	.	.	.	.	X	304	.	ENSP00000353024:W304X	W	-	3	0	IPP	45966026	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.524000	0.81866	2.937000	0.99478	0.650000	0.86243	TGG	IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.448	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3	-	0	46	0	C	NM_005897		46193439	-1	tier1	-	no_errors	ENST00000396478	ensembl	human	known	74_37	nonsense	35.71	18	10	SNP	1.000	T	T	46193439	C	T	46193439	4	4	79	1	0	0	0	0	0	1	0	0	7827	856	30	3	964	3	IPP	1	46193439	Nonsense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	5276748	46193439	203057182	6	20662											
DNAJC6	9829	genome.wustl.edu	37	chr1	65878666	65878666	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggagctcaatgatgcCtggtctgaatttgaaaacca	12	12	9	8	0	3	3	2	3	1	0	3	4	3	4	2	2	3	1	2	2	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:65878666C>G	ENST00000395325.3	+	19	2857	c.2700C>G	c.(2698-2700)gcC>gcG	p.A900A	DNAJC6_ENST00000263441.7_Silent_p.A887A|DNAJC6_ENST00000371069.4_Silent_p.A957A|RNU2-15P_ENST00000410692.1_RNA	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	900	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TCAATGATGCCTGGTCTGAAT	0.408																																																	0													151	152	151					1																	65878666		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"Heat shock proteins / DNAJ (HSP40)"	15469	protein-coding gene	gene with protein product	"auxilin"	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.2700C>G	1.37:g.65878666C>G			B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.A957	ENST00000395325.3	37	c.2871	CCDS30739.1	1																																																																																			DNAJC6	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain	ENSG00000116675		0.408	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	DNAJC6	HGNC	protein_coding	OTTHUMT00000025134.1	-	0	82	0	C			65878666	1	tier1	-	no_errors	ENST00000371069	ensembl	human	known	74_37	silent	35.44	51	28	SNP	1.000	G	G	65878666	C	G	65878666	2	3	79	1	0	0	0	0	0	0	0	1	4667	668	24	5		5	DNAJC6	1	65878666	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	19685227	65878666	183371955	7	20663											
ASB17	127247	genome.wustl.edu	37	chr1	76387872	76387872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatcaaccattactcttaCtctcgaagggtagagtacta	13	11	7	10	2	3	1	1	0	2	1	4	3	3	1	1	1	4	2	1	1	7	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:76387872C>T	ENST00000284142.6	-	2	713	c.574G>A	c.(574-576)Gta>Ata	p.V192I		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	192					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATTACTCTTACTCTCGAAGGG	0.363																																																	0													111	92	99					1																	76387872		2203	4300	6503	SO:0001583	missense	0			AF403035	CCDS671.1	1p22.3	2013-01-11	2011-01-25		ENSG00000154007	ENSG00000154007		"Ankyrin repeat domain containing"	19769	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 17"			12076535	Standard	NM_080868		Approved		uc001dhe.2	Q8WXJ9	OTTHUMG00000009787	ENST00000284142.6:c.574G>A	1.37:g.76387872C>T	ENSP00000284142:p.Val192Ile		B1APB8|Q8N0X5	Missense_Mutation	SNP	pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C	p.V192I	ENST00000284142.6	37	c.574	CCDS671.1	1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089227	0.36855	.	.	ENSG00000154007	ENST00000284142	T	0.32988	1.43	4.81	4.81	0.61882	.	0.131649	0.33712	N	0.004627	T	0.26738	0.0654	N	0.24115	0.695	0.31214	N	0.698288	D	0.58970	0.984	D	0.65443	0.935	T	0.04796	-1.0926	10	0.46703	T	0.11	.	13.7808	0.63081	0.0:1.0:0.0:0.0	.	192	Q8WXJ9	ASB17_HUMAN	I	192	ENSP00000284142:V192I	ENSP00000284142:V192I	V	-	1	0	ASB17	76160460	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	1.730000	0.38125	2.403000	0.81681	0.460000	0.39030	GTA	ASB17	-	NULL	ENSG00000154007		0.363	ASB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB17	HGNC	protein_coding	OTTHUMT00000026982.1	-	0	92	0	C	NM_080868		76387872	-1	tier1	-	no_errors	ENST00000284142	ensembl	human	known	74_37	missense	48.00	39	36	SNP	1.000	T	T	76387872	C	T	76387872	3	4	79	1	0	0	0	0	1	0	0	0	1022	565	20	3	321	3	ASB17	1	76387872	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	10509206	76387872	172862749	8	20664											
KCNA3	3738	genome.wustl.edu	37	chr1	111216923	111216923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacgttgaccggccggCggatgcggcccccggactga	5	5	17	14	6	0	2	0	2	0	0	0	4	0	4	4	6	1	2	4	6	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:111216923C>T	ENST00000369769.2	-	1	732	c.509G>A	c.(508-510)cGc>cAc	p.R170H		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GACCGGCCGGCGGATGCGGCC	0.622																																																	0													56	67	63					1																	111216923		2203	4300	6503	SO:0001583	missense	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.509G>A	1.37:g.111216923C>T	ENSP00000358784:p.Arg170His		Q5VWN2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R170H	ENST00000369769.2	37	c.509	CCDS828.2	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350967	0.82132	.	.	ENSG00000177272	ENST00000369769	T	0.75477	-0.94	4.67	4.67	0.58626	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	U	0.000000	T	0.76097	0.3940	L	0.33710	1.025	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.80696	-0.1267	10	0.87932	D	0	.	17.1304	0.86725	0.0:1.0:0.0:0.0	.	170	P22001	KCNA3_HUMAN	H	170	ENSP00000358784:R170H	ENSP00000358784:R170H	R	-	2	0	KCNA3	111018446	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.716000	0.84723	2.139000	0.66308	0.462000	0.41574	CGC	KCNA3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000177272		0.622	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0	131	0	C	NM_002232		111216923	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	missense	19.39	79	19	SNP	1.000	T	T	111216923	C	T	111216923	3	4	79	1	0	0	0	0	1	0	0	0	8031	768	27	1	1222	1	KCNA3	1	111216923	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	34829051	111216923	138033698	9	20665											
THEM5	284486	genome.wustl.edu	37	chr1	151824837	151824837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctagacttagtcttctcCagaaattcttggtacaggct	9	13	8	11	1	3	2	0	0	3	2	4	2	3	2	2	2	1	3	2	2	4	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:151824837C>T	ENST00000368817.5	-	2	353	c.222G>A	c.(220-222)ctG>ctA	p.L74L	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	74					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TAGTCTTCTCCAGAAATTCTT	0.507																																																	0													138	134	136					1																	151824837		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.222G>A	1.37:g.151824837C>T			Q5T1C3	Silent	SNP	pfam_Thioestr_supf	p.L74	ENST00000368817.5	37	c.222	CCDS1005.1	1	.	.	.	.	.	.	.	.	.	.	C	9.865	1.197238	0.22037	.	.	ENSG00000196407	ENST00000453881	.	.	.	5.28	1.98	0.26296	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.3079	3.9978	0.09566	0.0:0.5823:0.1984:0.2193	.	.	.	.	X	21	.	.	W	-	2	0	THEM5	150091461	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.530000	0.23036	1.227000	0.43598	0.655000	0.94253	TGG	THEM5	-	NULL	ENSG00000196407		0.507	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THEM5	HGNC	protein_coding	OTTHUMT00000036678.2	-	0	52	0	C	NM_182578		151824837	-1	tier1	-	no_errors	ENST00000368817	ensembl	human	known	74_37	silent	61.82	21	34	SNP	0.998	T	T	151824837	C	T	151824837	2	4	79	1	0	0	0	0	0	0	0	1	15906	581	21	3		3	THEM5	1	151824837	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	40607914	151824837	97425784	10	20666											
FLG	2312	genome.wustl.edu	37	chr1	152282747	152282747	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgtttgcctgcttgcacTtctgggtcctgactgcccat	3	16	9	13	0	2	1	0	1	2	0	3	1	3	1	3	1	4	3	3	1	0	4	rs536230632		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:152282747T>G	ENST00000368799.1	-	3	4650	c.4615A>C	c.(4615-4617)Agt>Cgt	p.S1539R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1539	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1539R(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTTGCACTTCTGGGTCCT	0.572									Ichthyosis				T|||	1	0.000199681	0	0	5008	,	,		20676	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	large_intestine(1)|lung(1)											303	293	296					1																	152282747		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4615A>C	1.37:g.152282747T>G	ENSP00000357789:p.Ser1539Arg		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S1539R	ENST00000368799.1	37	c.4615	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	9.888	1.203497	0.22121	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.67	-0.792	0.10925	.	.	.	.	.	T	0.00784	0.0026	M	0.75447	2.3	0.09310	N	1	B	0.17852	0.024	B	0.15870	0.014	T	0.42050	-0.9474	9	0.25106	T	0.35	.	5.1967	0.15243	0.0:0.4182:0.0:0.5818	.	1539	P20930	FILA_HUMAN	R	1539	ENSP00000357789:S1539R	ENSP00000357789:S1539R	S	-	1	0	FLG	150549371	0.003000	0.15002	0.000000	0.03702	0.169000	0.22640	0.226000	0.17776	-0.281000	0.09141	0.397000	0.26171	AGT	FLG	-	NULL	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	199	0	T	NM_002016		152282747	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	17.72	129	28	SNP	0.000	G	G	152282747	T	G	152282747	3	3	79	1	0	0	0	0	1	0	0	0	5944	1609	56	4	7574	4	FLG	1	152282747	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	457910	152282747	96967874	11	20667											
FLG2	388698	genome.wustl.edu	37	chr1	152327672	152327672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagatgtctgtcccgaacTtgacccatgttgaccatagc	9	10	9	13	1	1	3	0	2	1	1	2	4	2	3	4	0	2	1	4	0	2	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:152327672T>G	ENST00000388718.5	-	3	2662	c.2590A>C	c.(2590-2592)Agt>Cgt	p.S864R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	864	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCCGAACTTGACCCATGT	0.502																																																	0													382	334	351					1																	152327672		2203	4299	6502	SO:0001583	missense	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2590A>C	1.37:g.152327672T>G	ENSP00000373370:p.Ser864Arg		Q9H4U1	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S864R	ENST00000388718.5	37	c.2590	CCDS30861.1	1	.	.	.	.	.	.	.	.	.	.	T	8.989	0.977268	0.18812	.	.	ENSG00000143520	ENST00000388718	T	0.20598	2.06	4.6	-6.99	0.01605	.	.	.	.	.	T	0.04003	0.0112	L	0.40543	1.245	0.09310	N	1	B	0.22909	0.077	B	0.12837	0.008	T	0.37126	-0.9719	9	0.20046	T	0.44	0.2728	8.7803	0.34787	0.1058:0.2114:0.0:0.6828	.	864	Q5D862	FILA2_HUMAN	R	864	ENSP00000373370:S864R	ENSP00000373370:S864R	S	-	1	0	FLG2	150594296	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.762000	0.00189	-1.253000	0.02488	-0.417000	0.06048	AGT	FLG2	-	NULL	ENSG00000143520		0.502	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	161	0	T	NM_001014342		152327672	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	missense	16.89	123	25	SNP	0.000	G	G	152327672	T	G	152327672	3	3	79	1	0	0	0	0	1	0	0	0	5945	1609	56	4	4589	4	FLG2	1	152327672	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	44925	152327672	96922949	12	20668											
LCE1B	353132	genome.wustl.edu	37	chr1	152785167	152785167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgagccaccacaggcGccgtaggtcccactgccaca	8	5	10	18	2	0	1	0	1	0	0	1	1	1	1	6	2	3	1	6	2	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:152785167G>A	ENST00000360090.3	+	1	721	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	82	Gly-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCACAGGCGCCGTAGGTCC	0.687																																																	0													33	41	38					1																	152785167		2202	4296	6498	SO:0001583	missense	0			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"Late cornified envelopes"	16611	protein-coding gene	gene with protein product		612604	"small proline rich-like (epidermal differentiation complex) 2A"	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.245G>A	1.37:g.152785167G>A	ENSP00000353203:p.Arg82His		A4IF40	Missense_Mutation	SNP	NULL	p.R82H	ENST00000360090.3	37	c.245	CCDS1027.1	1	.	.	.	.	.	.	.	.	.	.	g	3.689	-0.063943	0.07273	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.03772	3.81	4.12	-4.4	0.03600	.	0.950758	0.08600	N	0.921643	T	0.01124	0.0037	N	0.26042	0.785	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.49771	-0.8904	10	0.87932	D	0	.	7.7837	0.29080	0.2847:0.5424:0.173:0.0	.	82	Q5T7P3	LCE1B_HUMAN	H	82;74	ENSP00000353203:R82H	ENSP00000353203:R82H	R	+	2	0	LCE1B	151051791	0.000000	0.05858	0.092000	0.20876	0.199000	0.23934	-1.304000	0.02741	-0.657000	0.05373	-0.127000	0.14921	CGC	LCE1B	-	NULL	ENSG00000196734		0.687	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1B	HGNC	protein_coding	OTTHUMT00000040060.1	-	0	107	0	G	NM_178349		152785167	1	tier1	-	no_errors	ENST00000360090	ensembl	human	known	74_37	missense	16.67	85	17	SNP	0.020	A	A	152785167	G	A	152785167	3	1	79	1	0	0	0	0	1	0	0	0	8688	1087	38	1	247	1	LCE1B	1	152785167	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	457495	152785167	96465454	13	20669											
IVL	3713	genome.wustl.edu	37	chr1	152882878	152882878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcagcaggaggggcAgctggagctcccagagcagc	10	2	16	13	0	0	2	0	0	0	2	1	4	1	4	2	4	6	6	2	4	0	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:152882878A>G	ENST00000368764.3	+	2	669	c.605A>G	c.(604-606)cAg>cGg	p.Q202R	IVL_ENST00000392667.2_Missense_Mutation_p.Q56R			P07476	INVO_HUMAN	involucrin	202	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			caggaggggcagctggagctc	0.697																																																	0													1	1	1					1																	152882878		332	651	983	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.605A>G	1.37:g.152882878A>G	ENSP00000357753:p.Gln202Arg		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q202R	ENST00000368764.3	37	c.605	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	A	8.868	0.948657	0.18356	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11169	3.04;2.8	3.41	-3.37	0.04898	.	.	.	.	.	T	0.02156	0.0067	L	0.55481	1.735	0.09310	N	1	B	0.30068	0.267	B	0.28139	0.086	T	0.44174	-0.9345	9	0.24483	T	0.36	.	0.8731	0.01218	0.4764:0.1606:0.2065:0.1566	.	202	P07476	INVO_HUMAN	R	202;56	ENSP00000357753:Q202R;ENSP00000376435:Q56R	ENSP00000357753:Q202R	Q	+	2	0	IVL	151149502	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.424000	0.07025	-0.742000	0.04790	-0.496000	0.04628	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.697	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1		0	53	0	A	NM_005547		152882878	1			no_errors	ENST00000368764	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.000	G	G	152882878	A	G	152882878	3	3	79	1	0	0	0	0	1	0	0	0	7956	188	7	4	607	4	IVL	1	152882878	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	97711	152882878	96367743	14	20670											
IVL	3713	genome.wustl.edu	37	chr1	152883121	152883121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcagatggggcagcTgaagtacctggaacagcagg	13	4	17	7	0	0	3	0	1	0	2	0	5	0	5	1	5	5	5	1	5	3	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:152883121T>C	ENST00000368764.3	+	2	912	c.848T>C	c.(847-849)cTg>cCg	p.L283P	IVL_ENST00000392667.2_Missense_Mutation_p.L137P			P07476	INVO_HUMAN	involucrin	283	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGGGCAGCTGAAGTACCTG	0.637																																																	0													18	16	17					1																	152883121		2045	4021	6066	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.848T>C	1.37:g.152883121T>C	ENSP00000357753:p.Leu283Pro		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.L283P	ENST00000368764.3	37	c.848	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	t	6.872	0.530365	0.13127	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.13089	2.78;2.62	3.44	0.763	0.18459	.	.	.	.	.	T	0.06371	0.0164	L	0.53249	1.67	0.09310	N	1	D	0.53619	0.961	P	0.47915	0.561	T	0.27536	-1.0071	9	0.30078	T	0.28	.	6.8427	0.23971	0.6222:0.0:0.0:0.3778	.	283	P07476	INVO_HUMAN	P	283;137	ENSP00000357753:L283P;ENSP00000376435:L137P	ENSP00000357753:L283P	L	+	2	0	IVL	151149745	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.345000	0.02637	-0.088000	0.12506	0.163000	0.16589	CTG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.637	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0	208	0	T	NM_005547		152883121	1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	17.05	106	22	SNP	0.000	C	C	152883121	T	C	152883121	3	2	79	1	0	0	0	0	1	0	0	0	7956	1580	55	4	850	4	IVL	1	152883121	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	243	152883121	96367500	15	20671											
OR10R2	343406	genome.wustl.edu	37	chr1	158450322	158450322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttaacgaatttgtgAtattcatttgtggagttctt	10	18	9	4	1	2	2	1	1	1	1	2	4	2	3	0	1	1	2	0	1	3	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:158450322A>G	ENST00000368152.1	+	1	655	c.655A>G	c.(655-657)Ata>Gta	p.I219V	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CGAATTTGTGATATTCATTTG	0.408																																																	0													156	145	148					1																	158450322		2203	4300	6503	SO:0001583	missense	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.655A>G	1.37:g.158450322A>G	ENSP00000357134:p.Ile219Val		Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I219V	ENST00000368152.1	37	c.655	CCDS30898.1	1	.	.	.	.	.	.	.	.	.	.	a	4.964	0.179030	0.09443	.	.	ENSG00000198965	ENST00000368152	T	0.00054	8.8	4.48	0.723	0.18231	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.13235	0.315	0.09310	N	1	B	0.20052	0.041	B	0.24269	0.052	T	0.22871	-1.0204	9	0.08381	T	0.77	.	4.7208	0.12917	0.5869:0.1553:0.2579:0.0	.	219	Q8NGX6	O10R2_HUMAN	V	219	ENSP00000357134:I219V	ENSP00000357134:I219V	I	+	1	0	OR10R2	156716946	0.000000	0.05858	0.054000	0.19295	0.903000	0.53119	0.181000	0.16880	-0.053000	0.13289	0.533000	0.62120	ATA	OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198965		0.408	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	-	0	66	0	A	NM_001004472		158450322	1	tier1	-	no_errors	ENST00000368152	ensembl	human	known	74_37	missense	16.67	70	14	SNP	0.169	G	G	158450322	A	G	158450322	3	3	79	1	0	0	0	0	1	0	0	0	10956	333	12	4	657	4	OR10R2	1	158450322	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	5567201	158450322	90800299	16	20672											
OR6Y1	391112	genome.wustl.edu	37	chr1	158517216	158517216	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatcctgaggatggtggcaAggatagcagcgtaggatgcc	10	7	17	7	1	0	1	0	1	0	0	1	5	1	5	2	6	3	3	2	6	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:158517216A>C	ENST00000302617.3	-	1	679	c.680T>G	c.(679-681)cTt>cGt	p.L227R		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GATGGTGGCAAGGATAGCAGC	0.532																																																	0													117	114	115					1																	158517216		2202	4300	6502	SO:0001583	missense	0			BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"GPCR / Class A : Olfactory receptors"	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.680T>G	1.37:g.158517216A>C	ENSP00000304807:p.Leu227Arg		Q6IFS0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L227R	ENST00000302617.3	37	c.680	CCDS30899.1	1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.364168	0.41902	.	.	ENSG00000197532	ENST00000302617	T	0.00249	8.44	5.34	5.34	0.76211	GPCR, rhodopsin-like superfamily (1);	0.204232	0.24294	N	0.039790	T	0.00356	0.0011	M	0.89414	3.03	0.28967	N	0.889461	D	0.64830	0.994	D	0.67231	0.95	T	0.15065	-1.0450	10	0.87932	D	0	.	13.3154	0.60405	1.0:0.0:0.0:0.0	.	227	Q8NGX8	OR6Y1_HUMAN	R	227	ENSP00000304807:L227R	ENSP00000304807:L227R	L	-	2	0	OR6Y1	156783840	0.198000	0.23374	0.781000	0.31783	0.157000	0.22087	4.404000	0.59735	2.230000	0.72887	0.533000	0.62120	CTT	OR6Y1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197532		0.532	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6Y1	HGNC	protein_coding	OTTHUMT00000051844.1	-	0	54	0	A	NM_001005189		158517216	-1	tier1	-	no_errors	ENST00000302617	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.669	C	C	158517216	A	C	158517216	3	2	79	1	0	0	0	0	1	0	0	0	11252	72	3	4	299	4	OR6Y1	1	158517216	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	66894	158517216	90733405	17	20673											
C1orf129	80133	genome.wustl.edu	37	chr1	170965775	170965775	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttactatcatggagtctgcTttattgctaagtaagaacag	12	14	9	6	0	2	1	1	0	1	1	2	2	2	2	0	1	4	4	0	1	6	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:170965775T>G	ENST00000367758.3	+	14	1564	c.1465T>G	c.(1465-1467)Ttt>Gtt	p.F489V	MROH9_ENST00000367759.4_Missense_Mutation_p.F489V	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	489																	TGGAGTCTGCTTTATTGCTAA	0.428																																																	0													204	192	196					1																	170965775		1861	4098	5959	SO:0001583	missense	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1465T>G	1.37:g.170965775T>G	ENSP00000356732:p.Phe489Val		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F489V	ENST00000367758.3	37	c.1465	CCDS41436.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.06|11.06	1.526302|1.526302	0.27299|0.27299	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.12984|.	4.29;2.63|.	5.75|5.75	1.45|1.45	0.22620|0.22620	.|.	0.236564|.	0.30134|.	N|.	0.010337|.	T|T	0.07954|0.07954	0.0199|0.0199	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.21225|.	0.053;0.053|.	B;B|.	0.21708|.	0.036;0.036|.	T|T	0.33879|0.33879	-0.9851|-0.9851	10|5	0.62326|.	D|.	0.03|.	-6.8967|-6.8967	2.9668|2.9668	0.05910|0.05910	0.1432:0.559:0.1388:0.1591|0.1432:0.559:0.1388:0.1591	.|.	489;489|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	V|R	489|95	ENSP00000356733:F489V;ENSP00000356732:F489V|.	ENSP00000356732:F489V|.	F|L	+|+	1|2	0|0	C1orf129|C1orf129	169232399|169232399	0.006000|0.006000	0.16342|0.16342	0.003000|0.003000	0.11579|0.11579	0.000000|0.000000	0.00434|0.00434	0.001000|0.001000	0.13038|0.13038	0.344000|0.344000	0.23847|0.23847	-1.118000|-1.118000	0.02043|0.02043	TTT|CTT	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.428	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1	-	0	66	0	T	NM_025063		170965775	1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	missense	14.29	60	10	SNP	0.009	G	G	170965775	T	G	170965775	3	3	79	1	0	0	0	0	1	0	0	0	2003	1609	56	4	1515	4	C1orf129	1	170965775	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	12448559	170965775	78284846	18	20674											
TDRD5	163589	genome.wustl.edu	37	chr1	179631398	179631398	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaagaatcagtattcaTcatgtaaagaaatgccacag	17	9	9	6	0	3	2	3	0	0	2	3	3	3	3	1	1	1	2	1	1	6	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:179631398T>G	ENST00000367614.1	+	14	2679	c.2320T>G	c.(2320-2322)Tca>Gca	p.S774A	TDRD5_ENST00000444136.1_Missense_Mutation_p.S828A|TDRD5_ENST00000294848.8_Missense_Mutation_p.S774A	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	774					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCAGTATTCATCATGTAAAGA	0.463																																																	0													78	73	75					1																	179631398		2203	4300	6503	SO:0001583	missense	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2320T>G	1.37:g.179631398T>G	ENSP00000356586:p.Ser774Ala		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.S828A	ENST00000367614.1	37	c.2482	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922901	0.18056	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.32753	2.62;2.62;2.83;1.44	4.62	-0.633	0.11519	.	1.627270	0.03343	N	0.195044	T	0.22475	0.0542	L	0.50333	1.59	0.09310	N	1	B;B	0.33171	0.4;0.172	B;B	0.24541	0.054;0.024	T	0.10660	-1.0620	10	0.17832	T	0.49	-14.8081	3.9441	0.09341	0.4913:0.0991:0.0:0.4096	.	828;774	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	A	774;774;828;284	ENSP00000356586:S774A;ENSP00000294848:S774A;ENSP00000406052:S828A;ENSP00000410744:S284A	ENSP00000294848:S774A	S	+	1	0	TDRD5	177898021	0.000000	0.05858	0.015000	0.15790	0.490000	0.33462	-0.506000	0.06359	0.002000	0.14630	0.528000	0.53228	TCA	TDRD5	-	NULL	ENSG00000162782		0.463	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	-	0	40	0	T	NM_173533		179631398	1	tier1	-	no_errors	ENST00000444136	ensembl	human	known	74_37	missense	56.60	23	30	SNP	0.020	G	G	179631398	T	G	179631398	3	3	79	1	0	0	0	0	1	0	0	0	15780	1435	50	4	2370	4	TDRD5	1	179631398	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	8665623	179631398	69619223	19	20675											
DHX9	1660	genome.wustl.edu	37	chr1	182844088	182844088	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtggtgaggatgatgAtgtaagtgaatttcatgaag	12	13	15	1	0	1	6	1	6	0	0	1	7	1	7	0	3	0	1	0	3	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:182844088A>T	ENST00000367549.3	+	16	1924	c.1814A>T	c.(1813-1815)gAt>gTt	p.D605V		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	605					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						gaggatgatgatgTAAGTGAA	0.353																																					Colon(69;210 1162 3697 13559 39565)												0													105	109	108					1																	182844088		1924	4130	6054	SO:0001630	splice_region_variant	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1815+1A>T	1.37:g.182844088A>T			B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.D605V	ENST00000367549.3	37	c.1814	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130016	0.56721	.	.	ENSG00000135829	ENST00000367549	T	0.04119	3.7	5.28	5.28	0.74379	.	0.064498	0.56097	D	0.000024	T	0.07773	0.0195	L	0.54965	1.715	0.80722	D	1	B	0.30584	0.286	B	0.32211	0.142	T	0.20571	-1.0271	10	0.36615	T	0.2	.	15.1778	0.72927	1.0:0.0:0.0:0.0	.	605	Q08211	DHX9_HUMAN	V	605	ENSP00000356520:D605V	ENSP00000356520:D605V	D	+	2	0	DHX9	181110711	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.821000	0.86641	2.113000	0.64589	0.528000	0.53228	GAT	DHX9	-	superfamily_P-loop_NTPase	ENSG00000135829		0.353	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	-	0	81	0	A	NM_030588	Missense_Mutation	182844088	1	tier1	-	no_errors	ENST00000367549	ensembl	human	known	74_37	missense	72.00	27	72	SNP	1.000	T	T	182844088	A	T	182844088	5	4	79	1	0	0	0	0	0	0	1	0	4530	347	12	5	1872	5	DHX9	1	182844088	Splice_Site	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	3212690	182844088	66406533	20	20676											
HMCN1	83872	genome.wustl.edu	37	chr1	186086206	186086206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgtactgtgacaaacgGtgctggagatgataaaagaa	16	9	12	4	1	0	5	0	3	0	2	0	6	0	5	0	2	3	2	0	2	6	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:186086206G>A	ENST00000271588.4	+	76	11871	c.11642G>A	c.(11641-11643)gGt>gAt	p.G3881D	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3881D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3881	Ig-like C2-type 37.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGACAAACGGTGCTGGAGAT	0.403																																																	0													163	148	153					1																	186086206		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11642G>A	1.37:g.186086206G>A	ENSP00000271588:p.Gly3881Asp		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.G3881D	ENST00000271588.4	37	c.11642	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203717	0.06180	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.22	5.35	2.84	0.33178	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181514	0.64402	N	0.000017	T	0.35856	0.0946	N	0.03268	-0.37	0.32504	N	0.53849	B	0.06786	0.001	B	0.08055	0.003	T	0.29058	-1.0024	10	0.12430	T	0.62	.	7.2426	0.26104	0.7749:0.1405:0.0846:0.0	.	3881	Q96RW7	HMCN1_HUMAN	D	3881	ENSP00000271588:G3881D;ENSP00000356462:G3881D	ENSP00000271588:G3881D	G	+	2	0	HMCN1	184352829	1.000000	0.71417	0.572000	0.28498	0.448000	0.32197	3.690000	0.54713	0.339000	0.23719	-0.345000	0.07892	GGT	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	49	0	G	NM_031935		186086206	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	22.22	35	10	SNP	0.998	A	A	186086206	G	A	186086206	3	1	79	1	0	0	0	0	1	0	0	0	7247	1261	44	3	11944	3	HMCN1	1	186086206	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	3242118	186086206	63164415	21	20677											
LAD1	3898	genome.wustl.edu	37	chr1	201355983	201355984	+	Frame_Shift_Del	DEL	CT	CT	-																															tttctggaacccctttcttcCtctcttctggctccctgccc																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:201355983_201355984delCT	ENST00000391967.2	-	3	806_807	c.505_506delAG	c.(505-507)aggfs	p.R169fs	LAD1_ENST00000367313.3_Frame_Shift_Del_p.R183fs	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	169						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCCTTTCTTCCTCTCTTCTGGC	0.584																																																	0																																										SO:0001589	frameshift_variant	0			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.505_506delAG	1.37:g.201355987_201355988delCT	ENSP00000375829:p.Arg169fs		O95614|Q96GD8	Frame_Shift_Del	DEL	pirsf_Ladinin_1	p.R183fs	ENST00000391967.2	37	c.548_547	CCDS1410.1	1																																																																																			LAD1	-	pirsf_Ladinin_1	ENSG00000159166		0.584	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	HGNC	protein_coding	OTTHUMT00000086946.1		0	25	0	CT	NM_005558		201355984	-1	tier1		no_errors	ENST00000367313	ensembl	human	known	74_37	frame_shift_del	20.00	16	4	DEL	0.000:0.000	-	-	201355984	CT	-	201355983	7	5	79	1	0	1	0	1	0	0	0	0	8627	681	24	0	1079	0	LAD1	1	201355983	Frame_Shift_Del	DEL	CT	TCGA-L5-A8NE-01A-11D-A37C-09	15269777	201355983	47894638	22	20678											
RYR2	6262	genome.wustl.edu	37	chr1	237666672	237666672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttatgaagctgttcTgccaaaagaaaagttgaaag	14	12	9	6	0	1	3	0	2	1	1	2	3	2	3	2	0	2	4	2	0	7	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:237666672T>C	ENST00000366574.2	+	22	2797	c.2480T>C	c.(2479-2481)cTg>cCg	p.L827P	RYR2_ENST00000360064.6_Missense_Mutation_p.L825P|RYR2_ENST00000542537.1_Missense_Mutation_p.L811P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	827					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGCTGTTCTGCCAAAAGAA	0.488																																																	0													89	90	90					1																	237666672		1942	4137	6079	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2480T>C	1.37:g.237666672T>C	ENSP00000355533:p.Leu827Pro		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L825P	ENST00000366574.2	37	c.2474	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614381	0.87359	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97186	-4.28;-4.25;-4.27	5.86	5.86	0.93980	.	0.000000	0.48767	D	0.000171	D	0.98388	0.9464	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99187	1.0869	10	0.59425	D	0.04	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	827	Q92736	RYR2_HUMAN	P	827;825;811	ENSP00000355533:L827P;ENSP00000353174:L825P;ENSP00000443798:L811P	ENSP00000353174:L825P	L	+	2	0	RYR2	235733295	0.998000	0.40836	0.997000	0.53966	0.968000	0.65278	7.990000	0.88215	2.367000	0.80283	0.528000	0.53228	CTG	RYR2	-	NULL	ENSG00000198626		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	67	0	T	NM_001035		237666672	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	71.43	16	40	SNP	1.000	C	C	237666672	T	C	237666672	3	2	79	1	0	0	0	0	1	0	0	0	13814	1580	55	4	2566	4	RYR2	1	237666672	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	36310689	237666672	11583949	23	20679											
FAM36A	116228	genome.wustl.edu	37	chr1	245005261	245005261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagtcccttaagctcctaGgatttttagatgttgaaaat	11	16	7	7	0	1	2	0	1	1	1	3	3	3	3	2	1	1	2	2	1	6	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:245005261G>A	ENST00000411948.2	+	2	451	c.58G>A	c.(58-60)Gga>Aga	p.G20R	COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Missense_Mutation_p.G32R	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	20						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TAAGCTCCTAGGATTTTTAGA	0.373																																																	0													68	62	64					1																	245005261		2203	4300	6503	SO:0001583	missense	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"Mitochondrial respiratory chain complex assembly factors"	26970	protein-coding gene	gene with protein product		614698	"family with sequence similarity 36, member A", "COX20 Cox2 chaperone homolog (S. cerevisiae)"	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.58G>A	1.37:g.245005261G>A	ENSP00000406327:p.Gly20Arg		Q8WV86	Missense_Mutation	SNP	pfam_Cox20/FAM36A,prints_FAM36A	p.G20R	ENST00000411948.2	37	c.58	CCDS31080.1	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889218	0.91889	.	.	ENSG00000203667	ENST00000411948;ENST00000366528	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85820	0.1385	9	0.72032	D	0.01	-26.7066	20.4024	0.99000	0.0:0.0:1.0:0.0	.	20	Q5RI15	FA36A_HUMAN	R	20;32	.	ENSP00000355486:G32R	G	+	1	0	FAM36A	243071884	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.601000	0.82783	2.827000	0.97445	0.650000	0.86243	GGA	COX20	-	pfam_Cox20/FAM36A	ENSG00000203667		0.373	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1	-	0	127	0	G	NM_198076		245005261	1	tier1	-	no_errors	ENST00000411948	ensembl	human	known	74_37	missense	11.92	133	18	SNP	1.000	A	A	245005261	G	A	245005261	3	1	79	1	0	0	0	0	1	0	0	0	5576	1001	35	3	64	3	FAM36A	1	245005261	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	7338589	245005261	4245360	24	20680											
OR1C1	26188	genome.wustl.edu	37	chr1	247921558	247921558	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatggaggtgagagtcaaAgccaatcgtcgcaatgatga	14	7	14	6	2	1	3	1	3	0	1	3	6	1	5	1	3	1	1	1	3	4	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:247921558A>C	ENST00000408896.2	-	1	424	c.151T>G	c.(151-153)Ttt>Gtt	p.F51V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	51					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGAGAGTCAAAGCCAATCGTC	0.483																																																	0													84	82	82					1																	247921558		2123	4250	6373	SO:0001583	missense	0			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.151T>G	1.37:g.247921558A>C	ENSP00000386138:p.Phe51Val		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F51V	ENST00000408896.2	37	c.151	CCDS41481.1	1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.608504	0.00842	.	.	ENSG00000221888	ENST00000408896	T	0.02863	4.13	2.83	0.25	0.15535	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01092	0.0036	N	0.01417	-0.88	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.47195	-0.9136	9	0.37606	T	0.19	.	3.9583	0.09399	0.6551:0.2146:0.1303:0.0	.	51	Q15619	OR1C1_HUMAN	V	51	ENSP00000386138:F51V	ENSP00000386138:F51V	F	-	1	0	OR1C1	245988181	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	-4.172000	0.00280	-0.073000	0.12842	0.477000	0.44152	TTT	OR1C1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221888		0.483	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	HGNC	protein_coding	OTTHUMT00000096855.1	-	0	31	0	A			247921558	-1	tier1	-	no_errors	ENST00000408896	ensembl	human	known	74_37	missense	71.43	10	25	SNP	0.000	C	C	247921558	A	C	247921558	3	2	79	1	0	0	0	0	1	0	0	0	10991	72	3	4	795	4	OR1C1	1	247921558	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	2916297	247921558	1329063	25	20681											
TRIM58	25893	genome.wustl.edu	37	chr1	248039764	248039764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggatcatttagatcctgcTtctgatgtaagagatgatca	12	13	10	6	0	3	4	2	2	1	2	4	6	4	5	1	1	1	2	1	1	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr1:248039764T>C	ENST00000366481.3	+	6	1482	c.1434T>C	c.(1432-1434)gcT>gcC	p.A478A	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	478						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAGATCCTGCTTCTGATGTAA	0.443																																																	0													69	65	66					1																	248039764		2203	4300	6503	SO:0001819	synonymous_variant	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	24150	protein-coding gene	gene with protein product			"tripartite motif-containing 58"				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1434T>C	1.37:g.248039764T>C			Q6B0H9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A478	ENST00000366481.3	37	c.1434	CCDS1636.1	1																																																																																			TRIM58	-	NULL	ENSG00000162722		0.443	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	-	0	35	0	T	NM_015431		248039764	1	tier1	-	no_errors	ENST00000366481	ensembl	human	known	74_37	silent	19.61	41	10	SNP	0.000	C	C	248039764	T	C	248039764	2	2	79	1	0	0	0	0	0	0	0	1	16579	1596	56	4		4	TRIM58	1	248039764	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	118206	248039764	1210857	26	20682											
DDX1	1653	genome.wustl.edu	37	chr2	15768947	15768947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaatttccctggtggCaacagaaaaagaaaaggtaa	16	8	10	7	0	1	2	0	0	1	2	2	2	2	2	1	4	1	3	1	4	7	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:15768947C>T	ENST00000381341.2	+	24	2248	c.1859C>T	c.(1858-1860)gCa>gTa	p.A620V	DDX1_ENST00000233084.3_Missense_Mutation_p.A620V			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	620	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TCCCTGGTGGCAACAGAAAAA	0.343																																																	0													93	93	93					2																	15768947		2203	4300	6503	SO:0001583	missense	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1859C>T	2.37:g.15768947C>T	ENSP00000370745:p.Ala620Val		B4DME8|B4DPN6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A620V	ENST00000381341.2	37	c.1859	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.720019	0.96839	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.04862	3.54;3.54	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	L	0.58669	1.825	0.80722	D	1	D	0.56287	0.975	P	0.55455	0.776	T	0.00001	-1.2717	10	0.72032	D	0.01	-20.3038	20.8794	0.99867	0.0:1.0:0.0:0.0	.	620	Q92499	DDX1_HUMAN	V	620;620;604	ENSP00000370745:A620V;ENSP00000233084:A620V	ENSP00000233084:A620V	A	+	2	0	DDX1	15686398	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.646000	0.67916	2.941000	0.99782	0.655000	0.94253	GCA	DDX1	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000079785		0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2		0	53	0	C	NM_004939		15768947	1			no_errors	ENST00000233084	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	15768947	C	T	15768947	3	4	79	1	0	0	0	0	1	0	0	0	4350	710	25	3	1949	3	DDX1	2	15768947	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09		15768947	227430426	27	20683											
MATN3	4148	genome.wustl.edu	37	chr2	20205632	20205632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtctgcccggtccacGcccacagcatagagctcaat	9	7	9	16	2	2	1	1	0	1	1	3	1	3	1	4	1	3	2	4	1	2	1	rs369658011		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:20205632G>A	ENST00000407540.3	-	2	725	c.663C>T	c.(661-663)ggC>ggT	p.G221G	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Silent_p.G221G	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	221	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGGTCCACGCCCACAGCAT	0.562																																																	0								G		0,4032		0,0,2016	27	30	29		663	-10.4	0.7	2		29	1,8347		0,1,4173	no	coding-synonymous	MATN3	NM_002381.4		0,1,6189	AA,AG,GG		0.012,0.0,0.0081		221/487	20205632	1,12379	2016	4174	6190	SO:0001819	synonymous_variant	0			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.663C>T	2.37:g.20205632G>A			B2CPU0|Q4ZG02	Silent	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.G221	ENST00000407540.3	37	c.663	CCDS46226.1	2																																																																																			MATN3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000132031		0.562	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	HGNC	protein_coding	OTTHUMT00000323925.1	-	0	74	0	G	NM_002381		20205632	-1	tier1	-	no_errors	ENST00000407540	ensembl	human	known	74_37	silent	35.00	25	14	SNP	0.016	A	A	20205632	G	A	20205632	2	1	79	1	0	0	0	0	0	0	0	1	9373	1074	38	1		1	MATN3	2	20205632	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	4436685	20205632	222993741	28	20684											
HS1BP3	64342	genome.wustl.edu	37	chr2	20838373	20838373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatccaggacagaggaaTctctgctggtgagccctgca	9	8	12	12	0	1	2	0	1	1	1	3	4	2	4	3	3	4	2	3	3	1	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:20838373T>A	ENST00000304031.3	-	4	471	c.446A>T	c.(445-447)gAt>gTt	p.D149V	HS1BP3_ENST00000402541.1_Missense_Mutation_p.D149V	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	149							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAGAGGAATCTCTGCTGGT	0.557																																																	0													101	96	98					2																	20838373		2203	4300	6503	SO:0001583	missense	0				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.446A>T	2.37:g.20838373T>A	ENSP00000305193:p.Asp149Val		B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.D149V	ENST00000304031.3	37	c.446	CCDS1700.1	2	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908919	0.52439	.	.	ENSG00000118960	ENST00000304031;ENST00000402541	T	0.20069	2.1	4.59	3.4	0.38934	Phox homologous domain (1);	0.572438	0.17629	N	0.167450	T	0.23410	0.0566	L	0.57536	1.79	0.22050	N	0.999397	P;P	0.48694	0.874;0.914	P;P	0.46758	0.491;0.526	T	0.06588	-1.0818	10	0.30078	T	0.28	-8.0145	7.1917	0.25828	0.0:0.109:0.0:0.891	.	149;149	F6TR53;Q53T59	.;H1BP3_HUMAN	V	149	ENSP00000305193:D149V	ENSP00000305193:D149V	D	-	2	0	HS1BP3	20701854	0.766000	0.28496	0.806000	0.32338	0.751000	0.42716	1.275000	0.33144	1.812000	0.52913	0.397000	0.26171	GAT	HS1BP3	-	superfamily_Phox	ENSG00000118960		0.557	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS1BP3	HGNC	protein_coding	OTTHUMT00000242863.1	-	0	56	0	T	NM_022460		20838373	-1	tier1	-	no_errors	ENST00000304031	ensembl	human	known	74_37	missense	21.05	29	8	SNP	0.217	A	A	20838373	T	A	20838373	3	1	79	1	0	0	0	0	1	0	0	0	7388	1435	50	5	748	5	HS1BP3	2	20838373	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	632741	20838373	222361000	29	20685											
OTOF	9381	genome.wustl.edu	37	chr2	26724638	26724638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggtaatccatgggcCgcccagcacttggctccatc	7	9	9	16	1	0	0	0	0	0	0	3	0	2	0	5	3	2	3	5	3	2	3	rs370225374		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:26724638C>T	ENST00000272371.2	-	8	875	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R250Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	250	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCATGGGCCGCCCAGCACT	0.537																																					GBM(102;732 1451 20652 24062 31372)												0								C	GLN/ARG	0,4406		0,0,2203	89	79	83		749	4.9	1	2		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOF	NM_194248.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	250/1998	26724638	1,13005	2203	4300	6503	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.749G>A	2.37:g.26724638C>T	ENSP00000272371:p.Arg250Gln		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R250Q	ENST00000272371.2	37	c.749	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910888	0.92178	0.0	1.16E-4	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.80909	-1.43;-1.43	5.81	4.94	0.65067	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	M	0.74258	2.255	0.50313	D	0.999863	D	0.63046	0.992	P	0.50570	0.644	D	0.86319	0.1691	10	0.72032	D	0.01	-25.3683	13.6958	0.62578	0.0:0.9256:0.0:0.0744	.	250	Q9HC10	OTOF_HUMAN	Q	250	ENSP00000272371:R250Q;ENSP00000385255:R250Q	ENSP00000272371:R250Q	R	-	2	0	OTOF	26578142	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	5.796000	0.69080	1.469000	0.48083	0.655000	0.94253	CGG	OTOF	-	superfamily_C2_dom,pfscan_C2_dom	ENSG00000115155		0.537	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	76	0	C			26724638	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	20.59	54	14	SNP	1.000	T	T	26724638	C	T	26724638	3	4	79	1	0	0	0	0	1	0	0	0	11342	652	23	1	5729	1	OTOF	2	26724638	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	5886265	26724638	216474735	30	20686											
TTC27	55622	genome.wustl.edu	37	chr2	32859031	32859031	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgttgacttacaccctCaggactttttgtcatctgtt	6	16	6	13	0	3	1	2	1	1	0	3	2	3	2	3	1	1	2	3	1	1	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:32859031C>T	ENST00000317907.4	+	3	586	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	MIR4765_ENST00000585007.1_RNA	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	119										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTACACCCTCAGGACTTTTT	0.363																																																	0													130	127	128					2																	32859031		2203	4300	6503	SO:0001587	stop_gained	0			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"Tetratricopeptide (TTC) repeat domain containing"	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.355C>T	2.37:g.32859031C>T	ENSP00000313953:p.Gln119*		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Nonsense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q119*	ENST00000317907.4	37	c.355	CCDS33176.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.311594	0.95655	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	.	.	.	5.53	5.53	0.82687	.	0.339062	0.29791	N	0.011199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-7.6938	14.5168	0.67824	0.0:0.8524:0.1476:0.0	.	.	.	.	X	69;119	.	ENSP00000313953:Q119X	Q	+	1	0	TTC27	32712535	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	2.982000	0.49337	2.587000	0.87381	0.563000	0.77884	CAG	TTC27	-	NULL	ENSG00000018699		0.363	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC27	HGNC	protein_coding	OTTHUMT00000325395.1	-	0	99	0	C	NM_017735		32859031	1	tier1	-	no_errors	ENST00000317907	ensembl	human	known	74_37	nonsense	48.53	35	33	SNP	1.000	T	T	32859031	C	T	32859031	4	4	79	1	0	0	0	0	0	1	0	0	16744	827	29	3	365	3	TTC27	2	32859031	Nonsense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	6134393	32859031	210340342	31	20687											
SLC8A1	6546	genome.wustl.edu	37	chr2	40656313	40656313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagctccagtcatgaggcGagtagcttgaatgcgataaa	12	8	12	9	2	1	2	1	2	0	0	2	4	2	2	2	1	3	3	2	1	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:40656313G>A	ENST00000403092.1	-	2	1141	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	SLC8A1_ENST00000405901.3_Missense_Mutation_p.R370C|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R370C|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R370C|SLC8A1_ENST00000542756.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R370C|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R370C|SLC8A1_ENST00000406785.2_Missense_Mutation_p.R370C			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	370					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R370S(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCATGAGGCGAGTAGCTTGA	0.428																																																	1	Substitution - Missense(1)	lung(1)											154	143	147					2																	40656313		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.1108C>T	2.37:g.40656313G>A	ENSP00000384763:p.Arg370Cys		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.R370C	ENST00000403092.1	37	c.1108	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499030	0.64298	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.57273	0.44;0.49;0.47;0.49;0.44;0.44;0.47;0.41;0.44;0.44	6.17	5.3	0.74995	.	0.048922	0.85682	N	0.000000	T	0.77538	0.4145	M	0.91663	3.23	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0	T	0.82878	-0.0239	10	0.87932	D	0	.	13.3312	0.60488	0.0754:0.0:0.9246:0.0	.	370;370;370;370;370	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	C	370	ENSP00000383886:R370C;ENSP00000440727:R370C;ENSP00000384763:R370C;ENSP00000385678:R370C;ENSP00000385188:R370C;ENSP00000385535:R370C;ENSP00000332931:R370C;ENSP00000384908:R370C;ENSP00000385811:R370C;ENSP00000443515:R370C	ENSP00000332931:R370C	R	-	1	0	SLC8A1	40509817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.326000	0.72905	1.635000	0.50512	0.655000	0.94253	CGC	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.428	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1		0	57	0	G	NM_021097		40656313	-1			no_errors	ENST00000332839	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	40656313	G	A	40656313	3	1	79	1	0	0	0	0	1	0	0	0	14751	1058	37	1	1961	1	SLC8A1	2	40656313	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	7797282	40656313	202543060	32	20688											
EML4	27436	genome.wustl.edu	37	chr2	42508029	42508029	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttatgcgcggtcggccaaTtaccatgttcattccttccg	6	14	9	12	4	1	0	1	0	0	0	4	0	3	0	4	2	2	2	4	2	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:42508029T>A	ENST00000318522.5	+	7	969	c.707T>A	c.(706-708)aTt>aAt	p.I236N	EML4_ENST00000402711.2_Missense_Mutation_p.I178N|EML4_ENST00000401738.3_Missense_Mutation_p.I247N	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	236					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGTCGGCCAATTACCATGTTC	0.403			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													103	92	96					2																	42508029		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.707T>A	2.37:g.42508029T>A	ENSP00000320663:p.Ile236Asn		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I236N	ENST00000318522.5	37	c.707	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753154	0.89753	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.31247	1.5;1.5;1.5	5.24	5.24	0.73138	HELP (1);	0.045792	0.85682	D	0.000000	T	0.55497	0.1924	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.91635	0.979;0.999	T	0.59836	-0.7379	10	0.72032	D	0.01	-13.7084	15.4338	0.75125	0.0:0.0:0.0:1.0	.	178;236	B5MCW9;Q9HC35	.;EMAL4_HUMAN	N	236;178;247	ENSP00000320663:I236N;ENSP00000385059:I178N;ENSP00000384939:I247N	ENSP00000320663:I236N	I	+	2	0	EML4	42361533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.967000	0.87967	2.086000	0.62901	0.528000	0.53228	ATT	EML4	-	pfam_HELP	ENSG00000143924		0.403	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	48	0	T	NM_019063		42508029	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	A	A	42508029	T	A	42508029	3	1	79	1	0	0	0	0	1	0	0	0	5115	1493	52	5	733	5	EML4	2	42508029	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	1851716	42508029	200691344	33	20689											
NRXN1	9378	genome.wustl.edu	37	chr2	50779806	50779806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggcttttatttttatagTacctgaccccatgtccagga	9	14	8	10	0	0	1	0	1	0	0	1	2	1	2	4	2	1	2	4	2	4	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:50779806T>C	ENST00000406316.2	-	9	3154	c.1678A>G	c.(1678-1680)Act>Gct	p.T560A	NRXN1_ENST00000401669.2_Missense_Mutation_p.T560A|NRXN1_ENST00000402717.3_Missense_Mutation_p.T552A|NRXN1_ENST00000405472.3_Missense_Mutation_p.T552A|NRXN1_ENST00000406859.3_Missense_Mutation_p.T560A|NRXN1_ENST00000404971.1_Missense_Mutation_p.T600A|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	560	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTTTTATAGTACCTGACCCC	0.438																																																	0													127	120	122					2																	50779806		1881	4101	5982	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1678A>G	2.37:g.50779806T>C	ENSP00000384311:p.Thr560Ala		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.T552A	ENST00000406316.2	37	c.1654	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	T	14.52	2.559775	0.45590	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.93	3.52	0.40303	.	0.151795	0.64402	N	0.000017	T	0.65417	0.2689	L	0.35542	1.07	0.33167	D	0.547741	P;B;B	0.41420	0.749;0.195;0.425	B;B;B	0.43445	0.406;0.145;0.42	T	0.65001	-0.6274	10	0.09843	T	0.71	.	7.9113	0.29793	0.123:0.0663:0.0:0.8107	.	600;560;552	Q9ULB1-3;F8WB18;A7E294	.;.;.	A	600;560;552;560;601;552;560	ENSP00000385142:T600A;ENSP00000384311:T560A;ENSP00000434015:T552A;ENSP00000385017:T560A;ENSP00000385434:T552A;ENSP00000385681:T560A	ENSP00000385017:T560A	T	-	1	0	NRXN1	50633310	1.000000	0.71417	0.339000	0.25562	0.946000	0.59487	7.985000	0.88162	0.475000	0.27415	-0.326000	0.08463	ACT	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.438	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	25	0	T			50779806	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	C	C	50779806	T	C	50779806	3	2	79	1	0	0	0	0	1	0	0	0	10704	1638	57	4	3168	4	NRXN1	2	50779806	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	8271777	50779806	192419567	34	20690											
ST3GAL5	8869	genome.wustl.edu	37	chr2	86073588	86073588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtcattggaataatatTcaaggtcagacagtggtgcg	14	11	11	5	1	3	1	3	0	0	1	3	2	3	2	0	3	1	0	0	3	5	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:86073588T>C	ENST00000377332.3	-	5	869	c.761A>G	c.(760-762)gAa>gGa	p.E254G	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.E231G|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.E226G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	254					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GGAATAATATTCAAGGTCAGA	0.373																																																	0													110	108	109					2																	86073588		2203	4300	6503	SO:0001583	missense	0			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"Sialyltransferases"	10872	protein-coding gene	gene with protein product		604402	"sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.761A>G	2.37:g.86073588T>C	ENSP00000366549:p.Glu254Gly		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E254G	ENST00000377332.3	37	c.761	CCDS1986.2	2	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337231	0.81911	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	T;T;T	0.32272	1.46;1.46;1.46	5.65	5.65	0.86999	.	0.147928	0.64402	D	0.000014	T	0.54886	0.1886	M	0.75777	2.31	0.80722	D	1	D;D;D	0.64830	0.993;0.994;0.993	D;D;D	0.66716	0.91;0.946;0.91	T	0.57866	-0.7737	10	0.56958	D	0.05	-13.3588	15.0567	0.71917	0.0:0.0:0.0:1.0	.	226;254;231	Q9UNP4-2;Q9UNP4;Q9UNP4-3	.;SIAT9_HUMAN;.	G	231;226;254	ENSP00000377397:E231G;ENSP00000377394:E226G;ENSP00000366549:E254G	ENSP00000366549:E254G	E	-	2	0	ST3GAL5	85927099	1.000000	0.71417	0.436000	0.26797	0.979000	0.70002	7.540000	0.82074	2.154000	0.67381	0.454000	0.30748	GAA	ST3GAL5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000115525		0.373	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	HGNC	protein_coding	OTTHUMT00000252486.1	-	0	41	0	T	NM_003896		86073588	-1	tier1	-	no_errors	ENST00000377332	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.994	C	C	86073588	T	C	86073588	3	2	79	1	0	0	0	0	1	0	0	0	15265	1783	62	4	507	4	ST3GAL5	2	86073588	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	35293782	86073588	157125785	35	20691											
RNF103	7844	genome.wustl.edu	37	chr2	86832517	86832517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacataatgagtgtggatcgGacccagcctcttctcctgca	9	10	10	12	1	2	1	0	1	2	0	4	4	2	3	3	2	2	1	3	2	1	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:86832517G>A	ENST00000237455.4	-	4	1475	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	169					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGTGGATCGGACCCAGCCTC	0.388																																																	0													88	86	87					2																	86832517		2203	4300	6503	SO:0001819	synonymous_variant	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"RING-type (C3HC4) zinc fingers"	12859	protein-coding gene	gene with protein product		602507	"zinc finger protein 103 homolog (mouse)"	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.507C>T	2.37:g.86832517G>A			A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.V169	ENST00000237455.4	37	c.507	CCDS33237.1	2																																																																																			RNF103	-	NULL	ENSG00000239305		0.388	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	-	0	29	0	G	NM_005667		86832517	-1	tier1	-	no_errors	ENST00000237455	ensembl	human	known	74_37	silent	17.86	22	5	SNP	0.937	A	A	86832517	G	A	86832517	2	1	79	1	0	0	0	0	0	0	0	1	13468	1161	41	3		3	RNF103	2	86832517	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	758929	86832517	156366856	36	20692											
ANKRD36	375248	genome.wustl.edu	37	chr2	97866072	97866072	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccttttgcttttcagtGtcttctcggaaaaaaccatc	9	16	5	11	1	3	0	1	0	2	0	6	1	4	1	2	1	2	1	2	1	4	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:97866072G>A	ENST00000461153.2	+	45	3001	c.2757G>A	c.(2755-2757)gtG>gtA	p.V919V	ANKRD36_ENST00000420699.2_Splice_Site_p.V919V			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	919										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTTTTCAGTGTCTTCTCGGA	0.358																																																	0													273	253	259					2																	97866072		692	1591	2283	SO:0001630	splice_region_variant	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"Ankyrin repeat domain containing"	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2756-1G>A	2.37:g.97866072G>A			B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V919	ENST00000461153.2	37	c.2757	CCDS54379.1	2																																																																																			ANKRD36	-	NULL	ENSG00000135976		0.358	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0	167	0	G		Silent	97866072	1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	silent	17.76	88	19	SNP	0.025	A	A	97866072	G	A	97866072	5	1	79	1	0	0	0	0	0	0	1	0	665	1391	48	3	2935	3	ANKRD36	2	97866072	Splice_Site	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	11033555	97866072	145333301	37	20693											
STEAP3	55240	genome.wustl.edu	37	chr2	120020751	120020751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccaccttcacgctcaCgctgctggtgccctgcgtcg	3	9	10	19	4	2	0	2	0	0	0	4	0	3	0	4	1	3	3	4	1	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:120020751C>T	ENST00000354888.5	+	6	1808	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	STEAP3_ENST00000393107.2_Missense_Mutation_p.T435M|STEAP3_ENST00000393110.2_Missense_Mutation_p.T445M|STEAP3_ENST00000425223.2_Missense_Mutation_p.T435M|STEAP3_ENST00000393106.2_Missense_Mutation_p.T435M|STEAP3_ENST00000393108.2_Missense_Mutation_p.T435M|STEAP3_ENST00000409811.1_3'UTR	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	435					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TTCACGCTCACGCTGCTGGTG	0.652																																																	0													95	92	93					2																	120020751		2203	4300	6503	SO:0001583	missense	0			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.1304C>T	2.37:g.120020751C>T	ENSP00000346961:p.Thr435Met		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.T445M	ENST00000354888.5	37	c.1334	CCDS2125.1	2	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872307	0.72180	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000393110;ENST00000393106;ENST00000393107;ENST00000425223;ENST00000546236	T;T;T;T;T;T	0.07800	3.17;3.17;3.16;3.17;3.17;3.17	4.82	4.82	0.62117	.	0.139803	0.49916	D	0.000137	T	0.23370	0.0565	L	0.54323	1.7	0.80722	D	1	D;P	0.71674	0.998;0.925	D;B	0.67382	0.951;0.146	T	0.00292	-1.1842	9	.	.	.	-22.7663	17.0672	0.86562	0.0:1.0:0.0:0.0	.	445;435	Q658P3-2;Q658P3	.;STEA3_HUMAN	M	435;435;445;435;435;435;79	ENSP00000376820:T435M;ENSP00000346961:T435M;ENSP00000376822:T445M;ENSP00000376818:T435M;ENSP00000376819:T435M;ENSP00000396214:T435M	.	T	+	2	0	STEAP3	119737221	1.000000	0.71417	0.993000	0.49108	0.639000	0.38242	5.542000	0.67218	2.527000	0.85204	0.561000	0.74099	ACG	STEAP3	-	NULL	ENSG00000115107		0.652	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP3	HGNC	protein_coding	OTTHUMT00000254193.1	-	0	31	0	C	NM_018234		120020751	1	tier1	-	no_errors	ENST00000393110	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.997	T	T	120020751	C	T	120020751	3	4	79	1	0	0	0	0	1	0	0	0	15326	536	19	1	1352	1	STEAP3	2	120020751	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	22154679	120020751	123178622	38	20694											
NCKAP5	344148	genome.wustl.edu	37	chr2	133543120	133543120	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctttataaccccatttggTtatcactgatgggggttcaa	10	15	8	8	0	3	1	2	1	1	0	3	1	3	1	2	3	1	2	2	3	4	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:133543120T>G	ENST00000409261.1	-	14	1637	c.1264A>C	c.(1264-1266)Acc>Ccc	p.T422P	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T422P|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	422										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCCATTTGGTTATCACTGAT	0.418																																																	0													99	92	94					2																	133543120		1839	4095	5934	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1264A>C	2.37:g.133543120T>G	ENSP00000387128:p.Thr422Pro		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.T422P	ENST00000409261.1	37	c.1264	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	t	14.87	2.664973	0.47572	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11930	2.73;2.73	5.23	5.23	0.72850	.	0.495643	0.14552	U	0.312630	T	0.08403	0.0209	N	0.14661	0.345	0.80722	D	1	B	0.25390	0.125	B	0.21917	0.037	T	0.20739	-1.0266	10	0.48119	T	0.1	.	7.2897	0.26360	0.1421:0.0:0.1481:0.7097	.	422	O14513	NCKP5_HUMAN	P	422	ENSP00000387128:T422P;ENSP00000380603:T422P	ENSP00000380603:T422P	T	-	1	0	NCKAP5	133259590	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.149000	0.42244	2.191000	0.70037	0.524000	0.50904	ACC	NCKAP5	-	NULL	ENSG00000176771		0.418	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	52	0	T	NM_207481		133543120	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	51.11	22	23	SNP	1.000	G	G	133543120	T	G	133543120	3	3	79	1	0	0	0	0	1	0	0	0	10262	1725	60	4	4493	4	NCKAP5	2	133543120	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	13522369	133543120	109656253	39	20695											
THSD7B	80731	genome.wustl.edu	37	chr2	137988781	137988781	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaacagaccaggtcaagaActatcctggcactggctggg	12	6	13	10	0	1	2	1	0	0	2	2	3	2	3	2	5	2	2	2	5	4	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:137988781A>C	ENST00000409968.1	+	8	2069	c.1891A>C	c.(1891-1893)Act>Cct	p.T631P	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T600P|THSD7B_ENST00000272643.3_Missense_Mutation_p.T631P			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	631	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGTCAAGAACTATCCTGGC	0.453																																																	0													38	39	39					2																	137988781		1909	4136	6045	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1891A>C	2.37:g.137988781A>C	ENSP00000387145:p.Thr631Pro			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T631P	ENST00000409968.1	37	c.1891		2	.	.	.	.	.	.	.	.	.	.	A	15.35	2.807567	0.50421	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.55052	0.54;0.54;0.54	5.89	0.966	0.19667	.	0.360590	0.34959	N	0.003548	T	0.57621	0.2066	M	0.84219	2.685	0.09310	N	0.999999	P;P	0.45715	0.845;0.865	P;B	0.50896	0.653;0.323	T	0.47433	-0.9118	10	0.34782	T	0.22	.	4.66	0.12637	0.33:0.0:0.2194:0.4505	.	631;600	Q9C0I4;C9JKN6	THS7B_HUMAN;.	P	631;631;600	ENSP00000387145:T631P;ENSP00000272643:T631P;ENSP00000413841:T600P	ENSP00000272643:T631P	T	+	1	0	THSD7B	137705251	0.009000	0.17119	0.019000	0.16419	0.918000	0.54935	0.669000	0.25142	0.472000	0.27344	0.460000	0.39030	ACT	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.453	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	84	0	A	XM_046570.9		137988781	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	31.58	52	24	SNP	0.027	C	C	137988781	A	C	137988781	3	2	79	1	0	0	0	0	1	0	0	0	15927	43	2	4	1824	4	THSD7B	2	137988781	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	4445661	137988781	105210592	40	20696											
GALNT13	114805	genome.wustl.edu	37	chr2	154801092	154801092	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcttcttactgctgtacTtcagtgaatgtaacaaatgt	11	16	7	7	0	3	1	1	1	2	0	3	1	3	1	0	0	4	3	0	0	5	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:154801092T>G	ENST00000392825.3	+	3	649	c.82T>G	c.(82-84)Ttc>Gtc	p.F28V	GALNT13_ENST00000409237.1_Missense_Mutation_p.F28V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	28					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F28L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACTGCTGTACTTCAGTGAATG	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											254	225	235					2																	154801092		2203	4300	6503	SO:0001583	missense	0			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23242	protein-coding gene	gene with protein product	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13", "polypeptide GalNAc transferase 13"	608369	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.82T>G	2.37:g.154801092T>G	ENSP00000376570:p.Phe28Val		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.F28V	ENST00000392825.3	37	c.82	CCDS2199.1	2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892888	0.91889	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.60171	0.29;0.21	5.43	5.43	0.79202	.	.	.	.	.	T	0.72637	0.3485	M	0.73962	2.25	0.80722	D	1	D;P	0.58970	0.984;0.695	P;B	0.61477	0.889;0.206	T	0.74839	-0.3528	9	0.49607	T	0.09	.	14.2927	0.66289	0.0:0.0:0.0:1.0	.	28;28	Q08ER7;Q8IUC8	.;GLT13_HUMAN	V	28	ENSP00000376570:F28V;ENSP00000387239:F28V	ENSP00000376570:F28V	F	+	1	0	GALNT13	154509338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.968000	0.87980	2.056000	0.61249	0.477000	0.44152	TTC	GALNT13	-	NULL	ENSG00000144278		0.418	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT13	HGNC	protein_coding	OTTHUMT00000254870.2	-	0	83	0	T	NM_052917		154801092	1	tier1	-	no_errors	ENST00000409237	ensembl	human	known	74_37	missense	49.25	34	33	SNP	1.000	G	G	154801092	T	G	154801092	3	3	79	1	0	0	0	0	1	0	0	0	6236	1609	56	4	84	4	GALNT13	2	154801092	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	16812311	154801092	88398281	41	20697											
PKP4	8502	genome.wustl.edu	37	chr2	159514662	159514662	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctttggaatttatcCtcatgtgatgctgtaaaaat	11	16	9	5	0	2	1	1	1	1	0	3	3	3	3	1	2	1	3	1	2	5	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:159514662C>A	ENST00000389759.3	+	12	2041	c.1929C>A	c.(1927-1929)tcC>tcA	p.S643S	PKP4_ENST00000389757.3_Silent_p.S643S|AC005042.4_ENST00000342892.4_RNA	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	643					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGAATTTATCCTCATGTGATG	0.318										HNSCC(62;0.18)																																							0													116	114	115					2																	159514662		2203	4300	6503	SO:0001819	synonymous_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"Armadillo repeat containing"	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1929C>A	2.37:g.159514662C>A			Q86W91	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S643	ENST00000389759.3	37	c.1929	CCDS33305.1	2																																																																																			PKP4	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000144283		0.318	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	-	0	43	0	C			159514662	1	tier1	-	no_errors	ENST00000389759	ensembl	human	known	74_37	silent	24.29	53	17	SNP	0.993	A	A	159514662	C	A	159514662	2	1	79	1	0	0	0	0	0	0	0	1	12026	668	24	3		3	PKP4	2	159514662	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	4713570	159514662	83684711	42	20698											
TTN	7273	genome.wustl.edu	37	chr2	179449464	179449464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaatcggttttcagcaCggacccggaagatgtactcc	10	9	10	12	3	1	1	1	0	0	1	3	3	2	3	3	3	3	3	3	3	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:179449464C>T	ENST00000591111.1	-	260	60205	c.59981G>A	c.(59980-59982)cGt>cAt	p.R19994H	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21635H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19067H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12695H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R12762H|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12570H			Q8WZ42	TITIN_HUMAN	titin	19994	Fibronectin type-III 44. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12695H(1)|p.R19065H(1)|p.R12570H(1)|p.R12762H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCAGCACGGACCCGGAA	0.488																																																	4	Substitution - Missense(4)	large_intestine(4)											179	178	178					2																	179449464		1919	4115	6034	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59981G>A	2.37:g.179449464C>T	ENSP00000465570:p.Arg19994His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R19067H	ENST00000591111.1	37	c.57200		2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665617	0.88251	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78123	0.4234	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.79200	-0.1901	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12570;12695;12762;19994	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	19067;12570;12762;12695;12568	ENSP00000343764:R19067H;ENSP00000434586:R12570H;ENSP00000340554:R12762H;ENSP00000352154:R12695H	ENSP00000340554:R12762H	R	-	2	0	TTN	179157710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.038000	0.70964	2.941000	0.99782	0.655000	0.94253	CGT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	54	0	C	NM_133378		179449464	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	179449464	C	T	179449464	3	4	79	1	0	0	0	0	1	0	0	0	16784	536	19	1	43287	1	TTN	2	179449464	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	19934802	179449464	63749909	43	20699											
TTN	7273	genome.wustl.edu	37	chr2	179596613	179596613	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgatctcaaagggaggAgtgcctgccacctcagccag	11	6	12	12	0	2	1	2	1	1	0	3	3	2	3	4	2	3	0	4	2	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:179596613A>G	ENST00000591111.1	-	56	16262	c.16038T>C	c.(16036-16038)acT>acC	p.T5346T	TTN_ENST00000589042.1_Silent_p.T5663T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T4419T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12164	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAGGGAGGAGTGCCTGCCA	0.423																																																	0													109	113	111					2																	179596613		2036	4207	6243	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16038T>C	2.37:g.179596613A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T4419	ENST00000591111.1	37	c.13257		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	33	0	A	NM_133378		179596613	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	42.42	19	14	SNP	0.000	G	G	179596613	A	G	179596613	2	3	79	1	0	0	0	0	0	0	0	1	16784	291	11	4		4	TTN	2	179596613	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	147149	179596613	63602760	44	20700											
ZNF804A	91752	genome.wustl.edu	37	chr2	185800871	185800871	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaggatttagcagaaaaAgtagatttgtccccagtgct	15	10	10	6	0	0	2	0	0	0	2	1	4	1	3	2	1	2	3	2	1	6	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:185800871A>C	ENST00000302277.6	+	4	1342	c.748A>C	c.(748-750)Agt>Cgt	p.S250R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	250							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGCAGAAAAAGTAGATTTGT	0.443																																																	0													95	90	92					2																	185800871		2203	4299	6502	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.748A>C	2.37:g.185800871A>C	ENSP00000303252:p.Ser250Arg		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S250R	ENST00000302277.6	37	c.748	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	18.60	3.657976	0.67586	.	.	ENSG00000170396	ENST00000302277	T	0.07021	3.23	5.42	5.42	0.78866	.	0.264355	0.32918	N	0.005491	T	0.15696	0.0378	L	0.43152	1.355	0.27577	N	0.949696	D	0.57899	0.981	P	0.52758	0.708	T	0.01914	-1.1248	10	0.72032	D	0.01	-7.6676	14.6352	0.68682	1.0:0.0:0.0:0.0	.	250	Q7Z570	Z804A_HUMAN	R	250	ENSP00000303252:S250R	ENSP00000303252:S250R	S	+	1	0	ZNF804A	185509116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.908000	0.56355	2.048000	0.60808	0.482000	0.46254	AGT	ZNF804A	-	NULL	ENSG00000170396		0.443	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	42	0	A	NM_194250		185800871	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	33.90	39	20	SNP	1.000	C	C	185800871	A	C	185800871	3	2	79	1	0	0	0	0	1	0	0	0	18218	72	3	4	762	4	ZNF804A	2	185800871	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	6204258	185800871	57398502	45	20701											
ZNF804A	91752	genome.wustl.edu	37	chr2	185802671	185802671	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctctggataggttaataAgtgaagacaaaaaagagaaa	20	8	9	4	0	1	3	0	1	1	2	2	5	2	4	1	2	0	1	1	2	8	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:185802671A>C	ENST00000302277.6	+	4	3142	c.2548A>C	c.(2548-2550)Agt>Cgt	p.S850R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	850							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAGGTTAATAAGTGAAGACAA	0.358																																																	0													58	59	59					2																	185802671		2203	4300	6503	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2548A>C	2.37:g.185802671A>C	ENSP00000303252:p.Ser850Arg		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S850R	ENST00000302277.6	37	c.2548	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.619073	0.00828	.	.	ENSG00000170396	ENST00000302277	T	0.05925	3.37	5.57	1.93	0.25924	.	0.957352	0.08720	N	0.903662	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49153	-0.8969	10	0.17369	T	0.5	-0.0184	8.6399	0.33970	0.7798:0.0:0.2202:0.0	.	850	Q7Z570	Z804A_HUMAN	R	850	ENSP00000303252:S850R	ENSP00000303252:S850R	S	+	1	0	ZNF804A	185510916	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.300000	0.33436	0.096000	0.17463	-0.326000	0.08463	AGT	ZNF804A	-	NULL	ENSG00000170396		0.358	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	31	0	A	NM_194250		185802671	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	73.53	9	25	SNP	0.002	C	C	185802671	A	C	185802671	3	2	79	1	0	0	0	0	1	0	0	0	18218	72	3	4	2562	4	ZNF804A	2	185802671	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1800	185802671	57396702	46	20702											
FSIP2	401024	genome.wustl.edu	37	chr2	186665416	186665416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacttttaaaaatgcttCaaagtgtagaagatggaaaa	18	11	8	4	0	2	2	2	0	0	2	2	3	2	3	0	1	2	2	0	1	9	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:186665416C>A	ENST00000424728.1	+	17	11383	c.11383C>A	c.(11383-11385)Caa>Aaa	p.Q3795K	FSIP2_ENST00000343098.5_Missense_Mutation_p.Q3884K|AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3795										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAATGCTTCAAAGTGTAGA	0.388																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11383C>A	2.37:g.186665416C>A	ENSP00000401306:p.Gln3795Lys		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.Q3884K	ENST00000424728.1	37	c.11650		2	.	.	.	.	.	.	.	.	.	.	C	6.351	0.432913	0.12045	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.51325	0.71;0.71	4.96	3.09	0.35607	.	.	.	.	.	T	0.32406	0.0828	N	0.14661	0.345	0.19300	N	0.999978	.	.	.	.	.	.	T	0.23332	-1.0191	7	0.62326	D	0.03	.	6.8402	0.23959	0.0:0.7283:0.1762:0.0955	.	.	.	.	K	3884;3795	ENSP00000344403:Q3884K;ENSP00000401306:Q3795K	ENSP00000344403:Q3884K	Q	+	1	0	FSIP2	186373661	0.341000	0.24801	0.294000	0.24946	0.036000	0.12997	0.341000	0.19909	0.620000	0.30215	0.460000	0.39030	CAA	FSIP2	-	NULL	ENSG00000188738		0.388	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	22	0	C	NM_173651		186665416	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.796	A	A	186665416	C	A	186665416	3	1	79	1	0	0	0	0	1	0	0	0	6099	827	29	3	11716	3	FSIP2	2	186665416	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	862745	186665416	56533957	47	20703											
DNAH7	56171	genome.wustl.edu	37	chr2	196737077	196737077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatcacggaggttgaacAagtagtgagatttagctgga	15	9	13	4	1	1	3	1	2	0	2	1	6	1	5	0	3	2	3	0	3	5	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:196737077A>G	ENST00000312428.6	-	40	6630	c.6530T>C	c.(6529-6531)tTg>tCg	p.L2177S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2177	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGGTTGAACAAGTAGTGAGA	0.393																																																	0													175	162	166					2																	196737077		1866	4098	5964	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6530T>C	2.37:g.196737077A>G	ENSP00000311273:p.Leu2177Ser		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L2177S	ENST00000312428.6	37	c.6530	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799532	0.70567	.	.	ENSG00000118997	ENST00000312428	T	0.38240	1.15	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000005	T	0.61899	0.2384	M	0.83483	2.645	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.67503	-0.5654	10	0.56958	D	0.05	.	13.973	0.64252	1.0:0.0:0.0:0.0	.	2177	Q8WXX0	DYH7_HUMAN	S	2177	ENSP00000311273:L2177S	ENSP00000311273:L2177S	L	-	2	0	DNAH7	196445322	0.859000	0.29813	0.998000	0.56505	0.984000	0.73092	3.515000	0.53429	2.029000	0.59856	0.528000	0.53228	TTG	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	99	0	A	NM_018897		196737077	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.967	G	G	196737077	A	G	196737077	3	3	79	1	0	0	0	0	1	0	0	0	4620	131	5	4	5648	4	DNAH7	2	196737077	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	10071661	196737077	46462296	48	20704											
MAP2	4133	genome.wustl.edu	37	chr2	210561678	210561678	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacttgctaaaaaaacagaAgttcaggcccactctccctc	14	8	6	13	0	2	1	1	0	1	1	4	2	2	1	2	1	3	2	2	1	6	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr2:210561678A>C	ENST00000360351.4	+	9	4931	c.4425A>C	c.(4423-4425)gaA>gaC	p.E1475D	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.E1471D|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1475					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAAAAACAGAAGTTCAGGCCC	0.388																																					Pancreas(27;423 979 28787 29963)												0													53	56	55					2																	210561678		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4425A>C	2.37:g.210561678A>C	ENSP00000353508:p.Glu1475Asp		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.E1475D	ENST00000360351.4	37	c.4425	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	A	12.42	1.933095	0.34096	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.24723	1.84;1.84	5.56	5.56	0.83823	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000007	T	0.26702	0.0653	L	0.39633	1.23	0.32497	N	0.539334	P;P	0.46784	0.884;0.592	P;P	0.46758	0.509;0.526	T	0.32903	-0.9889	10	0.36615	T	0.2	-25.1725	10.8951	0.47019	0.8598:0.0:0.0:0.1402	.	1471;1475	P11137-3;P11137	.;MAP2_HUMAN	D	1475;1471	ENSP00000353508:E1475D;ENSP00000392164:E1471D	ENSP00000353508:E1475D	E	+	3	2	MAP2	210269923	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.619000	0.46401	2.123000	0.65237	0.528000	0.53228	GAA	MAP2	-	pfam_MAP2_projctn	ENSG00000078018		0.388	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	42	0	A	NM_001039538		210561678	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	C	C	210561678	A	C	210561678	3	2	79	1	0	0	0	0	1	0	0	0	9273	69	3	4	4447	4	MAP2	2	210561678	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	13824601	210561678	32637695	49	20705											
SLC6A11	6538	genome.wustl.edu	37	chr3	10864996	10864996	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccactgtagagaattgtgTggagttccagaaactgaatg	12	12	11	6	0	0	3	0	1	0	2	2	5	2	4	2	1	1	2	2	1	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:10864996T>G	ENST00000254488.2	+	4	608	c.542T>G	c.(541-543)gTg>gGg	p.V181G	SLC6A11_ENST00000454147.1_Missense_Mutation_p.V181G	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	181					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	GAGAATTGTGTGGAGTTCCAG	0.433																																																	0													133	117	122					3																	10864996		2203	4300	6503	SO:0001583	missense	0			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"Solute carriers"	11044	protein-coding gene	gene with protein product	"GABA transporter 3"	607952	"solute carrier family 6 (neurotransmitter transporter, GABA), member 11"			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.542T>G	3.37:g.10864996T>G	ENSP00000254488:p.Val181Gly		B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.V181G	ENST00000254488.2	37	c.542	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	T	17.95	3.514738	0.64634	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.75589	-0.95;-0.95	5.81	5.81	0.92471	.	0.892285	0.09680	N	0.769871	T	0.80623	0.4658	M	0.85099	2.735	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.73760	-0.3881	10	0.54805	T	0.06	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	181	P48066	S6A11_HUMAN	G	181	ENSP00000254488:V181G;ENSP00000404120:V181G	ENSP00000254488:V181G	V	+	2	0	SLC6A11	10839996	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.094000	0.71431	2.217000	0.71921	0.533000	0.62120	GTG	SLC6A11	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000132164		0.433	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	-	0	94	0	T	NM_014229		10864996	1	tier1	-	no_errors	ENST00000254488	ensembl	human	known	74_37	missense	30.30	46	20	SNP	1.000	G	G	10864996	T	G	10864996	3	3	79	1	0	0	0	0	1	0	0	0	14719	1696	59	4	556	4	SLC6A11	3	10864996	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09		10864996	187157434	50	20706											
SCN5A	6331	genome.wustl.edu	37	chr3	38674551	38674551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctatagaaggggtccAggtcctccaggggctctccg	6	8	16	11	1	1	1	0	0	1	1	5	1	4	1	4	6	1	2	4	6	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:38674551A>G	ENST00000333535.4	-	2	397	c.248T>C	c.(247-249)cTg>cCg	p.L83P	SCN5A_ENST00000413689.1_Missense_Mutation_p.L83P|SCN5A_ENST00000449557.2_Missense_Mutation_p.L83P|SCN5A_ENST00000450102.2_Missense_Mutation_p.L83P|SCN5A_ENST00000443581.1_Missense_Mutation_p.L83P|SCN5A_ENST00000455624.2_Missense_Mutation_p.L83P|SCN5A_ENST00000423572.2_Missense_Mutation_p.L83P|SCN5A_ENST00000414099.2_Missense_Mutation_p.L83P|SCN5A_ENST00000425664.1_Missense_Mutation_p.L83P|SCN5A_ENST00000451551.2_Missense_Mutation_p.L83P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	83					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGGGGTCCAGGTCCTCCAG	0.607																																																	0													45	48	47					3																	38674551		1925	4154	6079	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.248T>C	3.37:g.38674551A>G	ENSP00000328968:p.Leu83Pro		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.L83P	ENST00000333535.4	37	c.248	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	A	18.76	3.691959	0.68271	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97066	-4.1;-4.15;-4.16;-4.17;-4.15;-4.1;-4.15;-4.23;-4.17;-4.16	4.73	3.54	0.40534	.	0.251926	0.34531	N	0.003885	D	0.97371	0.9140	L	0.53671	1.685	0.58432	D	0.999994	P;D;P;P;D;P	0.76494	0.799;0.994;0.911;0.911;0.999;0.946	B;P;P;P;D;P	0.70935	0.424;0.832;0.521;0.521;0.971;0.714	D	0.97128	0.9816	10	0.87932	D	0	.	11.495	0.50402	0.8492:0.1508:0.0:0.0	.	83;83;83;83;83;83	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	P	83	ENSP00000398962:L83P;ENSP00000398266:L83P;ENSP00000410257:L83P;ENSP00000388797:L83P;ENSP00000397915:L83P;ENSP00000416634:L83P;ENSP00000328968:L83P;ENSP00000399524:L83P;ENSP00000403355:L83P;ENSP00000413996:L83P	ENSP00000328968:L83P	L	-	2	0	SCN5A	38649555	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.065000	0.93941	0.808000	0.34231	0.402000	0.26972	CTG	SCN5A	-	NULL	ENSG00000183873		0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	75	0	A	NM_198056		38674551	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	G	G	38674551	A	G	38674551	3	3	79	1	0	0	0	0	1	0	0	0	13967	188	7	4	6006	4	SCN5A	3	38674551	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	27809555	38674551	159347879	51	20707											
CELSR3	1951	genome.wustl.edu	37	chr3	48697920	48697920	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatgctccacagactcAcggtccaggggaccactcac	12	6	9	14	1	2	1	2	0	0	1	4	2	4	2	3	3	1	2	3	3	2	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:48697920A>C	ENST00000164024.4	-	1	2428	c.2148T>G	c.(2146-2148)cgT>cgG	p.R716R	CELSR3_ENST00000544264.1_Silent_p.R716R	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	716	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGACTCACGGTCCAGGG	0.557																																																	0													65	62	63					3																	48697920		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2148T>G	3.37:g.48697920A>C			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R716	ENST00000164024.4	37	c.2148	CCDS2775.1	3																																																																																			CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000008300		0.557	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	-	0	52	0	A	NM_001407		48697920	-1	tier1	-	no_errors	ENST00000544264	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.558	C	C	48697920	A	C	48697920	2	2	79	1	0	0	0	0	0	0	0	1	3230	146	6	4		4	CELSR3	3	48697920	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	10023369	48697920	149324510	52	20708											
AMIGO3	29925	genome.wustl.edu	37	chr3	49756121	49756121	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggaagaagcgcacgcGggacgcgggtaccttgaagg	9	5	18	9	5	0	2	0	1	0	1	0	4	0	4	1	4	3	3	1	4	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:49756121G>A	ENST00000480687.1	-	0	4263				RNF123_ENST00000497099.1_Intron|AMIGO3_ENST00000535833.1_Missense_Mutation_p.R260C|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.R260C			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGCGCACGCGGGACGCGGGT	0.667																																																	0													25	28	27					3																	49756121		2202	4300	6502	SO:0001624	3_prime_UTR_variant	0			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3064C>T	3.37:g.49756121G>A			A8K6N5|Q9H7U3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R260C	ENST00000480687.1	37	c.778	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225719	0.39300	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.61274	0.12;0.12	5.4	3.5	0.40072	.	0.451624	0.23105	N	0.051878	T	0.54175	0.1842	M	0.63428	1.95	0.36897	D	0.890202	D	0.65815	0.995	B	0.40534	0.332	T	0.64774	-0.6328	10	0.59425	D	0.04	-15.9821	14.3209	0.66487	0.0:0.3411:0.6589:0.0	.	260	Q86WK7	AMGO3_HUMAN	C	260	ENSP00000323096:R260C;ENSP00000439268:R260C	ENSP00000323096:R260C	R	-	1	0	AMIGO3	49731125	0.553000	0.26513	0.193000	0.23327	0.319000	0.28217	0.877000	0.28106	0.532000	0.28657	0.462000	0.41574	CGC	AMIGO3	-	NULL	ENSG00000176020		0.667	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1	-	0	36	0	G	NM_013334		49756121	-1	tier1	-	no_errors	ENST00000320431	ensembl	human	known	74_37	missense	37.50	25	15	SNP	0.444	A	A	49756121	G	A	49756121	1	1	79	0	1	0	0	0	0	0	0	0	577	1116	39	1		1	AMIGO3	3	49756121	3'UTR	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1058201	49756121	148266309	53	20709											
DOCK3	1795	genome.wustl.edu	37	chr3	51317601	51317601	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacccatttccagcaccTcctggacaacttccagagca	11	8	6	16	0	0	2	0	1	0	1	3	3	3	3	5	1	3	2	5	1	1	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:51317601T>A	ENST00000266037.9	+	27	2911	c.2888T>A	c.(2887-2889)cTc>cAc	p.L963H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	963					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTCCAGCACCTCCTGGACAAC	0.532																																																	0													71	72	72					3																	51317601		2075	4207	6282	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2888T>A	3.37:g.51317601T>A	ENSP00000266037:p.Leu963His		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.L963H	ENST00000266037.9	37	c.2888	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744434	0.89663	.	.	ENSG00000088538	ENST00000266037	T	0.77620	-1.11	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	M	0.75777	2.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.88106	0.2822	10	0.52906	T	0.07	.	15.5413	0.76052	0.0:0.0:0.0:1.0	.	963	Q8IZD9	DOCK3_HUMAN	H	963	ENSP00000266037:L963H	ENSP00000266037:L963H	L	+	2	0	DOCK3	51292641	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.948000	0.87774	2.063000	0.61619	0.533000	0.62120	CTC	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.532	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	84	0	T	NM_004947		51317601	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A	A	51317601	T	A	51317601	3	1	79	1	0	0	0	0	1	0	0	0	4702	1551	54	5	2994	5	DOCK3	3	51317601	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	1561480	51317601	146704829	54	20710											
DOCK3	1795	genome.wustl.edu	37	chr3	51387791	51387791	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagttctttcgggtcggcTtctatggcaggaagtttcct	5	15	12	9	2	2	1	0	1	2	0	5	2	3	2	1	4	0	4	1	4	2	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:51387791T>G	ENST00000266037.9	+	40	4098	c.4075T>G	c.(4075-4077)Ttc>Gtc	p.F1359V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1359	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCGGGTCGGCTTCTATGGCAG	0.433																																																	0													164	164	164					3																	51387791		1897	4121	6018	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4075T>G	3.37:g.51387791T>G	ENSP00000266037:p.Phe1359Val		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.F1359V	ENST00000266037.9	37	c.4075	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	T	28.5	4.921781	0.92319	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.17054	2.3	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.48892	0.1525	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.59247	-0.7490	10	0.87932	D	0	.	15.2623	0.73634	0.0:0.0:0.0:1.0	.	1359	Q8IZD9	DOCK3_HUMAN	V	1359;155	ENSP00000266037:F1359V	ENSP00000266037:F1359V	F	+	1	0	DOCK3	51362831	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.972000	0.88022	2.002000	0.58637	0.477000	0.44152	TTC	DOCK3	-	NULL	ENSG00000088538		0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	67	0	T	NM_004947		51387791	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	45.45	36	30	SNP	1.000	G	G	51387791	T	G	51387791	3	3	79	1	0	0	0	0	1	0	0	0	4702	1609	56	4	4233	4	DOCK3	3	51387791	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	70190	51387791	146634639	55	20711											
DNAH12	201625	genome.wustl.edu	37	chr3	57509603	57509603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctaaatttcttttggctCcatcaattctgaaatttata	11	19	4	7	0	4	1	1	1	3	0	5	1	5	1	1	1	0	1	1	1	6	8			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:57509603C>T	ENST00000351747.2	-	3	359	c.179G>A	c.(178-180)gGa>gAa	p.G60E	DNAH12_ENST00000311202.6_Missense_Mutation_p.G60E|DNAH12_ENST00000389536.4_Missense_Mutation_p.G60E	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	60	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTTTTGGCTCCATCAATTCT	0.299																																																	0													90	91	91					3																	57509603		2203	4289	6492	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.179G>A	3.37:g.57509603C>T	ENSP00000295937:p.Gly60Glu		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G60E	ENST00000351747.2	37	c.179		3	.	.	.	.	.	.	.	.	.	.	C	1.642	-0.516279	0.04200	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.20200	2.24;2.09;3.74;3.2	4.28	-0.782	0.10961	.	0.831650	0.10530	N	0.663992	T	0.11750	0.0286	L	0.36672	1.1	0.58432	D	0.999995	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.0	T	0.34502	-0.9826	10	0.06757	T	0.87	.	4.6806	0.12732	0.0:0.464:0.1566:0.3794	.	60;60	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	E	60	ENSP00000295937:G60E;ENSP00000418137:G60E;ENSP00000374187:G60E;ENSP00000312554:G60E	ENSP00000312554:G60E	G	-	2	0	DNAH12	57484643	0.944000	0.32072	0.589000	0.28718	0.958000	0.62258	0.065000	0.14466	-0.075000	0.12798	-0.136000	0.14681	GGA	DNAH12	-	NULL	ENSG00000174844		0.299	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		-	0	66	0	C	NM_178504		57509603	-1	tier1	-	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	21.62	58	16	SNP	0.672	T	T	57509603	C	T	57509603	3	4	79	1	0	0	0	0	1	0	0	0	4614	855	30	3	9370	3	DNAH12	3	57509603	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	6121812	57509603	140512827	56	20712											
EPHA3	2042	genome.wustl.edu	37	chr3	89448604	89448604	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatgggacgaacagccgcaAgtttgagtttgaaactagtc	13	10	11	7	2	0	2	0	2	0	0	1	4	0	3	1	1	3	3	1	1	5	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:89448604A>C	ENST00000336596.2	+	7	1793	c.1568A>C	c.(1567-1569)aAg>aCg	p.K523T	EPHA3_ENST00000452448.2_Missense_Mutation_p.K523T|EPHA3_ENST00000494014.1_Missense_Mutation_p.K523T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	523	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AACAGCCGCAAGTTTGAGTTT	0.458										TSP Lung(6;0.00050)																																							0													106	99	101					3																	89448604		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1568A>C	3.37:g.89448604A>C	ENSP00000337451:p.Lys523Thr		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K523T	ENST00000336596.2	37	c.1568	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	12.46	1.944970	0.34283	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.52057	0.68;0.68;0.68	5.53	5.53	0.82687	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.151132	0.64402	D	0.000010	T	0.32734	0.0839	N	0.16567	0.415	0.47778	D	0.999515	B;B	0.13594	0.001;0.008	B;B	0.15052	0.003;0.012	T	0.11591	-1.0581	9	.	.	.	.	15.6643	0.77213	1.0:0.0:0.0:0.0	.	523;523	P29320;P29320-2	EPHA3_HUMAN;.	T	523	ENSP00000337451:K523T;ENSP00000399926:K523T;ENSP00000419190:K523T	.	K	+	2	0	EPHA3	89531294	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.023000	0.57211	2.107000	0.64212	0.460000	0.39030	AAG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	-	0	51	0	A	NM_005233		89448604	1	tier1	-	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	C	C	89448604	A	C	89448604	3	2	79	1	0	0	0	0	1	0	0	0	5184	72	3	4	1594	4	EPHA3	3	89448604	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	31939001	89448604	108573826	57	20713											
OR5K3	403277	genome.wustl.edu	37	chr3	98109656	98109656	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggtttggtggcattgatTtatatagagcaacgtcttca	10	16	10	5	1	2	2	1	1	1	1	2	2	2	2	0	3	2	3	0	3	4	8			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:98109656T>G	ENST00000383695.1	+	1	147	c.147T>G	c.(145-147)atT>atG	p.I49M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGGCATTGATTTATATAGAGC	0.408																																																	0													277	260	266					3																	98109656		2203	4300	6503	SO:0001583	missense	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.147T>G	3.37:g.98109656T>G	ENSP00000373194:p.Ile49Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I49M	ENST00000383695.1	37	c.147	CCDS33803.1	3	.	.	.	.	.	.	.	.	.	.	T	9.986	1.229539	0.22542	.	.	ENSG00000206536	ENST00000383695	T	0.08458	3.09	5.35	-6.78	0.01721	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000868	T	0.30792	0.0776	H	0.97783	4.075	0.09310	N	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.05954	-1.0854	10	0.87932	D	0	-45.7675	4.2972	0.10908	0.3655:0.3096:0.0:0.3249	.	49	A6NET4	OR5K3_HUMAN	M	49	ENSP00000373194:I49M	ENSP00000373194:I49M	I	+	3	3	OR5K3	99592346	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-2.637000	0.00866	-1.435000	0.01972	0.491000	0.48974	ATT	OR5K3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000206536		0.408	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	HGNC	protein_coding	OTTHUMT00000359110.1	-	0	117	0	T			98109656	1	tier1	-	no_errors	ENST00000383695	ensembl	human	known	74_37	missense	58.33	25	35	SNP	0.000	G	G	98109656	T	G	98109656	3	3	79	1	0	0	0	0	1	0	0	0	11207	1829	64	4	149	4	OR5K3	3	98109656	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	8661052	98109656	99912774	58	20714											
ABI3BP	25890	genome.wustl.edu	37	chr3	100508347	100508347	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggcctcacagtagtataAaatctgtgtggcgctgaaac	11	10	11	9	1	2	1	1	1	1	0	2	1	2	1	1	2	1	3	1	2	5	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:100508347A>C	ENST00000284322.5	-	24	2089	c.1980T>G	c.(1978-1980)ttT>ttG	p.F660L	ABI3BP_ENST00000471714.1_Missense_Mutation_p.F1337L|ABI3BP_ENST00000383691.4_Missense_Mutation_p.F614L	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	660	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGTAGTATAAAATCTGTGTG	0.428																																																	0													71	64	67					3																	100508347		1839	4093	5932	SO:0001583	missense	0			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"Fibronectin type III domain containing"	17265	protein-coding gene	gene with protein product	"target of Nesh-SH3"	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1980T>G	3.37:g.100508347A>C	ENSP00000284322:p.Phe660Leu		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.F660L	ENST00000284322.5	37	c.1980	CCDS46880.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	0.008|0.008|0.008	-1.877533|-1.877533|-1.877533	0.00537|0.00537|0.00537	.|.|.	.|.|.	ENSG00000154175|ENSG00000154175|ENSG00000154175	ENST00000495591;ENST00000471901|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691;ENST00000486770|ENST00000497395	T|T;T;T|.	0.23147|0.19532|.	1.92|2.46;2.16;2.14|.	5.7|5.7|5.7	-1.15|-1.15|-1.15	0.09709|0.09709|0.09709	.|.|.	0.819360|0.819360|.	0.11197|0.11197|.	N|N|.	0.589268|0.589268|.	T|T|T	0.05823|0.05823|0.05823	0.0152|0.0152|0.0152	N|N|N	0.00289|0.00289|0.00289	-1.7|-1.7|-1.7	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B;B;B|.	.|0.15719|.	.|0.0;0.0;0.014;0.001|.	.|B;B;B;B|.	.|0.06405|.	.|0.0;0.0;0.002;0.001|.	T|T|T	0.39643|0.39643|0.39643	-0.9604|-0.9604|-0.9604	8|10|5	0.54805|0.07813|.	T|T|.	0.06|0.8|.	-1.9099|-1.9099|-1.9099	4.5214|4.5214|4.5214	0.11960|0.11960|0.11960	0.1596:0.3651:0.0:0.4753|0.1596:0.3651:0.0:0.4753|0.1596:0.3651:0.0:0.4753	.|.|.	.|614;660;1337;344|.	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.|.;TARSH_HUMAN;.;.|.	C|L|V	716;240|1337;660;344;46;614;72|76	ENSP00000418817:F716C|ENSP00000420524:F1337L;ENSP00000284322:F660L;ENSP00000373189:F614L|.	ENSP00000418024:F240C|ENSP00000284322:F660L|.	F|F|L	-|-|-	2|3|1	0|2|2	ABI3BP|ABI3BP|ABI3BP	101991037|101991037|101991037	0.013000|0.013000|0.013000	0.17824|0.17824|0.17824	0.052000|0.052000|0.052000	0.19188|0.19188|0.19188	0.137000|0.137000|0.137000	0.21094|0.21094|0.21094	0.096000|0.096000|0.096000	0.15147|0.15147|0.15147	-0.070000|-0.070000|-0.070000	0.12908|0.12908|0.12908	-1.263000|-1.263000|-1.263000	0.01449|0.01449|0.01449	TTT|TTT|TTA	ABI3BP	-	NULL	ENSG00000154175		0.428	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI3BP	HGNC	protein_coding	OTTHUMT00000353260.1	-	0	60	0	A			100508347	-1	tier1	-	no_errors	ENST00000284322	ensembl	human	known	74_37	missense	57.14	15	20	SNP	0.004	C	C	100508347	A	C	100508347	3	2	79	1	0	0	0	0	1	0	0	0	91	11	1	4	1295	4	ABI3BP	3	100508347	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	2398691	100508347	97514083	59	20715											
IMPG2	50939	genome.wustl.edu	37	chr3	100976494	100976494	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtataaacaacagtgggTttatcatccagttccacaag	14	12	7	8	0	1	0	1	0	0	0	3	0	3	0	2	1	2	3	2	1	6	6	rs34375459	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:100976494T>G	ENST00000193391.7	-	10	1219	c.1032A>C	c.(1030-1032)aaA>aaC	p.K344N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	344	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.		K -> N (in dbSNP:rs34375459).		visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CAACAGTGGGTTTATCATCCA	0.438																																																	0													119	116	117					3																	100976494		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1032A>C	3.37:g.100976494T>G	ENSP00000193391:p.Lys344Asn		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.K344N	ENST00000193391.7	37	c.1032	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	T	13.57	2.276537	0.40294	.	.	ENSG00000081148	ENST00000193391	T	0.23348	1.91	5.51	-1.86	0.07760	SEA (1);	0.075437	0.56097	D	0.000039	T	0.14874	0.0359	L	0.39898	1.24	0.35828	D	0.825065	B;B	0.33171	0.4;0.4	B;B	0.34873	0.191;0.113	T	0.14755	-1.0461	10	0.23891	T	0.37	-17.3853	3.8071	0.08782	0.1258:0.1889:0.1119:0.5734	rs34375459	344;344	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	344	ENSP00000193391:K344N	ENSP00000193391:K344N	K	-	3	2	IMPG2	102459184	0.003000	0.15002	0.988000	0.46212	0.916000	0.54674	-1.684000	0.01932	-0.451000	0.07097	0.379000	0.24179	AAA	IMPG2	-	smart_SEA_dom	ENSG00000081148		0.438	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0	43	0	T			100976494	-1	tier1	rs34375459	no_errors	ENST00000193391	ensembl	human	known	74_37	missense	70.59	5	12	SNP	0.968	G	G	100976494	T	G	100976494	3	3	79	1	0	0	0	0	1	0	0	0	7756	1722	60	4	2733	4	IMPG2	3	100976494	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	468147	100976494	97045936	60	20716											
ATP6V1A	523	genome.wustl.edu	37	chr3	113499971	113499971	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcgaattggttggaGagattattcgattggagggt	10	11	15	5	2	0	1	0	0	0	1	1	6	0	3	1	4	1	1	1	4	2	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:113499971G>T	ENST00000273398.3	+	3	265	c.157G>T	c.(157-159)Gag>Tag	p.E53*	ATP6V1A_ENST00000538620.1_Nonsense_Mutation_p.E20*	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	53					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ATTGGTTGGAGAGATTATTCG	0.433																																																	0													181	167	171					3																	113499971		2203	4300	6503	SO:0001587	stop_gained	0			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.157G>T	3.37:g.113499971G>T	ENSP00000273398:p.Glu53*		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Nonsense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.E53*	ENST00000273398.3	37	c.157	CCDS2976.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.636364	0.96693	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.0751	19.653	0.95825	0.0:0.0:1.0:0.0	.	.	.	.	X	53;20;20;53	.	ENSP00000273398:E53X	E	+	1	0	ATP6V1A	114982661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.147000	0.94646	2.634000	0.89283	0.591000	0.81541	GAG	ATP6V1A	-	pfam_ATPase_F1_a/bsu_N,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	ENSG00000114573		0.433	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	HGNC	protein_coding	OTTHUMT00000354457.1		0	54	0	G	NM_001690		113499971	1			no_errors	ENST00000273398	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	1.000	T	T	113499971	G	T	113499971	4	4	79	1	0	0	0	0	0	1	0	0	1178	943	33	3	163	3	ATP6V1A	3	113499971	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	12523477	113499971	84522459	61	20717											
VEPH1	79674	genome.wustl.edu	37	chr3	157004431	157004431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacgtcaaagaacctcacTtcttccagatggagctgtac	13	9	7	12	1	3	2	2	0	1	2	4	3	4	3	2	1	4	2	2	1	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:157004431T>G	ENST00000362010.2	-	12	2350	c.2043A>C	c.(2041-2043)gaA>gaC	p.E681D	RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.E681D|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.E636D|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.E636D	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	681						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGAACCTCACTTCTTCCAGAT	0.483																																																	0													167	147	154					3																	157004431		2203	4300	6503	SO:0001583	missense	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"Pleckstrin homology (PH) domain containing"	25735	protein-coding gene	gene with protein product		609594	"ventricular zone expressed PH domain homolog 1 (zebrafish)"			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2043A>C	3.37:g.157004431T>G	ENSP00000354919:p.Glu681Asp		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E681D	ENST00000362010.2	37	c.2043	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133655	0.77662	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.09630	2.96;3.0;2.96;3.0	6.0	3.64	0.41730	.	0.049063	0.85682	D	0.000000	T	0.10937	0.0267	L	0.60455	1.87	0.80722	D	1	P;B	0.43231	0.801;0.179	B;B	0.37451	0.25;0.092	T	0.08351	-1.0726	10	0.36615	T	0.2	1.0783	9.3893	0.38363	0.0:0.1458:0.0:0.8542	.	636;681	Q14D04-2;Q14D04	.;MELT_HUMAN	D	636;681;636;681	ENSP00000376578:E636D;ENSP00000354919:E681D;ENSP00000446258:E636D;ENSP00000376577:E681D	ENSP00000354919:E681D	E	-	3	2	VEPH1	158487125	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.647000	0.46639	0.528000	0.28580	0.519000	0.50382	GAA	VEPH1	-	NULL	ENSG00000197415		0.483	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	-	0	37	0	T	NM_024621		157004431	-1	tier1	-	no_errors	ENST00000362010	ensembl	human	known	74_37	missense	56.10	17	23	SNP	1.000	G	G	157004431	T	G	157004431	3	3	79	1	0	0	0	0	1	0	0	0	17203	1606	56	4	470	4	VEPH1	3	157004431	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	43504460	157004431	41017999	62	20718											
SLITRK3	22865	genome.wustl.edu	37	chr3	164906581	164906581	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttctttcgacgccttcGgagcacgtaggcaaagaggc	9	8	12	12	4	1	1	0	0	1	1	3	3	1	2	1	3	2	4	1	3	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:164906581G>A	ENST00000475390.1	-	2	2481	c.2038C>T	c.(2038-2040)Cga>Tga	p.R680*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R680*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	680					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CGACGCCTTCGGAGCACGTAG	0.542										HNSCC(40;0.11)																																							0													64	57	59					3																	164906581		2203	4300	6503	SO:0001587	stop_gained	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2038C>T	3.37:g.164906581G>A	ENSP00000420091:p.Arg680*		Q1RMY6	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R680*	ENST00000475390.1	37	c.2038	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	G	40	8.326203	0.98762	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.0	1.87	0.25490	.	0.000000	0.32671	N	0.005790	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-9.0705	12.7688	0.57408	0.0:0.0:0.4858:0.5141	.	.	.	.	X	680	.	ENSP00000241274:R680X	R	-	1	2	SLITRK3	166389275	0.802000	0.28943	0.206000	0.23566	0.492000	0.33523	1.914000	0.39966	0.726000	0.32339	0.655000	0.94253	CGA	SLITRK3	-	NULL	ENSG00000121871		0.542	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0	22	0	G	NM_014926		164906581	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	nonsense	18.18	36	8	SNP	0.548	A	A	164906581	G	A	164906581	4	1	79	1	0	0	0	0	0	1	0	0	14789	1124	39	1	899	1	SLITRK3	3	164906581	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	7902150	164906581	33115849	63	20719											
BCHE	590	genome.wustl.edu	37	chr3	165547508	165547508	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcattatttccccattcTgagaacttcttggtgaactc	10	14	7	10	0	2	2	0	2	2	1	4	3	3	2	2	2	2	1	2	2	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:165547508T>G	ENST00000264381.3	-	2	1480	c.1314A>C	c.(1312-1314)tcA>tcC	p.S438S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	438					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTCCCCATTCTGAGAACTTCT	0.433																																																	0													97	102	100					3																	165547508		2203	4300	6503	SO:0001819	synonymous_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1314A>C	3.37:g.165547508T>G			A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.S438	ENST00000264381.3	37	c.1314	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.433	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	45	0	T			165547508	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	73.85	17	48	SNP	0.061	G	G	165547508	T	G	165547508	2	3	79	1	0	0	0	0	0	0	0	1	1359	1567	55	4		4	BCHE	3	165547508	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	640927	165547508	32474922	64	20720											
BCHE	590	genome.wustl.edu	37	chr3	165548672	165548672	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggctgttaccgtgccAccaaaaactgtcaagttcat	14	9	8	10	1	2	1	2	0	0	1	2	1	2	1	3	1	3	3	3	1	5	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:165548672A>C	ENST00000264381.3	-	2	316	c.150T>G	c.(148-150)ggT>ggG	p.G50G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	50					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTACCGTGCCACCAAAAACTG	0.423																																																	0													116	107	110					3																	165548672		2203	4300	6503	SO:0001819	synonymous_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.150T>G	3.37:g.165548672A>C			A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.G50	ENST00000264381.3	37	c.150	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.423	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	74	0	A			165548672	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	12.50	56	8	SNP	0.449	C	C	165548672	A	C	165548672	2	2	79	1	0	0	0	0	0	0	0	1	1359	146	6	4		4	BCHE	3	165548672	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1164	165548672	32473758	65	20721											
LRRIQ4	344657	genome.wustl.edu	37	chr3	169540181	169540181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaccacctgaaatgtctgCccaaggaaatagtgaaccag	16	6	9	10	0	1	2	0	2	1	0	1	4	1	3	4	1	3	0	4	1	6	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:169540181C>T	ENST00000340806.6	+	1	472	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	158										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAAATGTCTGCCCAAGGAAAT	0.512																																																	0													56	58	57					3																	169540181		1965	4157	6122	SO:0001583	missense	0				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.472C>T	3.37:g.169540181C>T	ENSP00000342188:p.Pro158Ser			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.P158S	ENST00000340806.6	37	c.472	CCDS46951.1	3	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487432	0.84854	.	.	ENSG00000188306	ENST00000340806	T	0.29917	1.55	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000001	T	0.59797	0.2220	M	0.78801	2.425	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.62407	-0.6861	10	0.66056	D	0.02	.	19.1287	0.93396	0.0:1.0:0.0:0.0	.	158	A6NIV6	LRIQ4_HUMAN	S	158	ENSP00000342188:P158S	ENSP00000342188:P158S	P	+	1	0	LRRIQ4	171022875	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	2.233000	0.43027	2.631000	0.89168	0.462000	0.41574	CCC	LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188306		0.512	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	-	0	53	0	C	NM_001080460		169540181	1	tier1	-	no_errors	ENST00000340806	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	169540181	C	T	169540181	3	4	79	1	0	0	0	0	1	0	0	0	9066	739	26	3	474	3	LRRIQ4	3	169540181	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	3991509	169540181	28482249	66	20722											
MCCC1	56922	genome.wustl.edu	37	chr3	182737954	182737954	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcataggagctaaggggccGccctgagtttcttgtgagct	7	11	14	9	1	2	2	1	2	1	0	2	3	2	3	2	3	2	3	2	3	2	4	rs199528231	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr3:182737954G>T	ENST00000265594.4	-	17	2087	c.1941C>A	c.(1939-1941)ggC>ggA	p.G647G	MCCC1-AS1_ENST00000471731.2_RNA|MCCC1_ENST00000539926.1_3'UTR|MCCC1_ENST00000489909.1_5'Flank|MCCC1_ENST00000492597.1_Silent_p.G538G	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	647	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTAAGGGGCCGCCCTGAGTTT	0.398																																																	0													93	97	95					3																	182737954		2203	4300	6503	SO:0001819	synonymous_variant	0			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1941C>A	3.37:g.182737954G>T			Q59ES4|Q9H959|Q9NS97	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.G647	ENST00000265594.4	37	c.1941	CCDS3241.1	3																																																																																			MCCC1	-	superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl	ENSG00000078070		0.398	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	HGNC	protein_coding	OTTHUMT00000350775.1		0	38	0	G	NM_020166		182737954	-1			no_errors	ENST00000265594	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.180	T	T	182737954	G	T	182737954	2	4	79	1	0	0	0	0	0	0	0	1	9412	1074	38	2		2	MCCC1	3	182737954	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	13197773	182737954	15284476	67	20723											
ZNF721	170960	genome.wustl.edu	37	chr4	438107	438107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacttttacagcctttcCttaattgtaaattatcatgc	11	18	3	9	0	2	0	2	0	0	0	3	0	3	0	2	0	4	1	2	0	6	8			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:438107C>T	ENST00000338977.5	-	2	161	c.113G>A	c.(112-114)aGg>aAg	p.R38K	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.R50K|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACAGCCTTTCCTTAATTGTAA	0.343																																																	0													61	68	66					4																	438107		2115	4273	6388	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.113G>A	4.37:g.438107C>T	ENSP00000340524:p.Arg38Lys		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R50K	ENST00000338977.5	37	c.149		4	.	.	.	.	.	.	.	.	.	.	C	3.682	-0.065422	0.07273	.	.	ENSG00000182903	ENST00000338977;ENST00000511833;ENST00000505900	T;T;T	0.05319	3.47;3.46;6.1	1.03	1.03	0.20045	.	.	.	.	.	T	0.04003	0.0112	L	0.40543	1.245	0.09310	N	1	B;B;B	0.19817	0.023;0.023;0.039	B;B;B	0.09377	0.002;0.002;0.004	T	0.46679	-0.9174	9	0.02654	T	1	.	4.203	0.10476	0.3959:0.6041:0.0:0.0	.	38;50;50	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	K	38;50;82	ENSP00000340524:R38K;ENSP00000428878:R50K;ENSP00000421325:R82K	ENSP00000340524:R38K	R	-	2	0	ZNF721	428107	0.000000	0.05858	0.003000	0.11579	0.114000	0.19823	-0.455000	0.06762	0.486000	0.27676	0.195000	0.17529	AGG	ZNF721	-	NULL	ENSG00000182903		0.343	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0	62	0	C	NM_133474		438107	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	39.13	28	18	SNP	0.002	T	T	438107	C	T	438107	3	4	79	1	0	0	0	0	1	0	0	0	18170	681	24	3	2626	3	ZNF721	4	438107	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09		438107	190716169	68	20724											
ATP10D	57205	genome.wustl.edu	37	chr4	47593309	47593309	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgctattgagcaaggaaacTtatctctgtgtgaaactgct	11	13	10	7	0	1	2	0	2	1	0	2	3	1	3	0	1	5	3	0	1	5	3	rs536235043	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:47593309T>G	ENST00000273859.3	+	23	4461	c.4192T>G	c.(4192-4194)Tta>Gta	p.L1398V		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1398					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCAAGGAAACTTATCTCTGTG	0.458																																																	0													144	143	143					4																	47593309		2203	4299	6502	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.4192T>G	4.37:g.47593309T>G	ENSP00000273859:p.Leu1398Val		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L1398V	ENST00000273859.3	37	c.4192	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	T	10.03	1.239183	0.22711	.	.	ENSG00000145246	ENST00000273859	T	0.38722	1.12	4.33	-8.66	0.00866	.	4.506970	0.00166	N	0.000015	T	0.31040	0.0784	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30736	-0.9968	10	0.10636	T	0.68	11.4644	9.5229	0.39147	0.4141:0.0:0.4591:0.1268	.	1398	Q9P241	AT10D_HUMAN	V	1398	ENSP00000273859:L1398V	ENSP00000273859:L1398V	L	+	1	2	ATP10D	47288066	0.000000	0.05858	0.000000	0.03702	0.435000	0.31806	-2.282000	0.01156	-3.824000	0.00102	-0.898000	0.02899	TTA	ATP10D	-	NULL	ENSG00000145246		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	35	0	T	NM_020453		47593309	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.000	G	G	47593309	T	G	47593309	3	3	79	1	0	0	0	0	1	0	0	0	1119	1606	56	4	4278	4	ATP10D	4	47593309	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	47155202	47593309	143560967	69	20725											
SULT1E1	6783	genome.wustl.edu	37	chr4	70707713	70707713	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagtaaagaaagaccttctTagatctcagttcgaaacttc	15	12	6	8	1	2	3	1	0	2	3	5	4	2	3	1	0	1	2	1	0	6	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:70707713T>C	ENST00000226444.3	-	8	996	c.884A>G	c.(883-885)tAa>tGa	p.*295*		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	0					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|estrogen metabolic process (GO:0008210)|female pregnancy (GO:0007565)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	estrone sulfotransferase activity (GO:0004304)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid binding (GO:0005496)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10					Acetaminophen(DB00316)|Cyclizine(DB01176)	AAGACCTTCTTAGATCTCAGT	0.303																																																	0													97	97	97					4																	70707713		2202	4296	6498	SO:0001819	synonymous_variant	0			BC027956	CCDS3531.1	4q13.1	2008-02-05	2004-02-06	2004-02-04	ENSG00000109193	ENSG00000109193	2.8.2.4	"Sulfotransferases, cytosolic"	11377	protein-coding gene	gene with protein product		600043	"sulfotransferase, estrogen-preferring"	STE		7961757	Standard	NM_005420		Approved	EST	uc003heo.3	P49888	OTTHUMG00000129403	ENST00000226444.3:c.884A>G	4.37:g.70707713T>C			Q8N6X5	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.*295	ENST00000226444.3	37	c.884	CCDS3531.1	4																																																																																			SULT1E1	-	NULL	ENSG00000109193		0.303	SULT1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1E1	HGNC	protein_coding	OTTHUMT00000251559.1	-	0	58	0	T	NM_005420		70707713	-1	tier1	-	no_errors	ENST00000226444	ensembl	human	known	74_37	silent	31.91	32	15	SNP	0.479	C	C	70707713	T	C	70707713	2	2	79	1	0	0	0	0	0	0	0	1	15427	1761	61	4		4	SULT1E1	4	70707713	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	23114404	70707713	120446563	70	20726											
HPGDS	27306	genome.wustl.edu	37	chr4	95223334	95223334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctcccccctaaatatGtgtccaagtcttgcataaga	11	13	5	12	0	2	1	0	0	2	1	5	1	4	1	4	0	1	1	4	0	5	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:95223334G>A	ENST00000295256.5	-	5	488	c.398C>T	c.(397-399)aCa>aTa	p.T133I	HPGDS_ENST00000514774.1_5'Flank	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	133	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CCCTAAATATGTGTCCAAGTC	0.353																																					Colon(86;1802 1843 17863 46794)												0													155	159	158					4																	95223334		2203	4300	6503	SO:0001583	missense	0			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"Glutathione S-transferases / Soluble"	17890	protein-coding gene	gene with protein product	"glutathione S-transferase sigma"	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.398C>T	4.37:g.95223334G>A	ENSP00000295256:p.Thr133Ile		Q6FHT9	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.T133I	ENST00000295256.5	37	c.398	CCDS3640.1	4	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637437	0.29157	.	.	ENSG00000163106	ENST00000295256	T	0.02140	4.43	5.49	2.28	0.28536	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.504148	0.19056	N	0.123908	T	0.03348	0.0097	M	0.68952	2.095	0.19300	N	0.999975	B	0.29531	0.247	B	0.30646	0.118	T	0.32561	-0.9902	10	0.54805	T	0.06	.	5.8325	0.18588	0.1689:0.0:0.5605:0.2706	.	133	O60760	HPGDS_HUMAN	I	133	ENSP00000295256:T133I	ENSP00000295256:T133I	T	-	2	0	HPGDS	95442357	0.048000	0.20356	0.998000	0.56505	0.782000	0.44232	0.064000	0.14437	0.648000	0.30732	0.563000	0.77884	ACA	HPGDS	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000163106		0.353	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	HGNC	protein_coding	OTTHUMT00000253587.1	-	0	65	0	G	NM_014485		95223334	-1	tier1	-	no_errors	ENST00000295256	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.092	A	A	95223334	G	A	95223334	3	1	79	1	0	0	0	0	1	0	0	0	7362	1377	48	3	209	3	HPGDS	4	95223334	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	24515621	95223334	95930942	71	20727											
BANK1	55024	genome.wustl.edu	37	chr4	102984282	102984282	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgggaaaaggccagaagaAgaaaatgtctatagtaagta	19	8	11	3	0	1	3	0	0	1	3	1	4	1	4	1	2	0	2	1	2	10	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:102984282A>C	ENST00000322953.4	+	13	2473	c.2199A>C	c.(2197-2199)gaA>gaC	p.E733D	BANK1_ENST00000428908.1_Missense_Mutation_p.E600D|BANK1_ENST00000444316.2_Missense_Mutation_p.E703D|BANK1_ENST00000504592.1_Missense_Mutation_p.E718D|BANK1_ENST00000508653.1_Missense_Mutation_p.E600D	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	733					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GGCCAGAAGAAGAAAATGTCT	0.358																																																	0													97	99	99					4																	102984282		2203	4300	6503	SO:0001583	missense	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.2199A>C	4.37:g.102984282A>C	ENSP00000320509:p.Glu733Asp		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.E733D	ENST00000322953.4	37	c.2199	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	A	8.402	0.842170	0.16963	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	T;T;T;T;T	0.17370	2.96;2.96;2.28;2.28;2.96	5.58	1.42	0.22433	.	0.378307	0.26979	N	0.021540	T	0.08268	0.0206	N	0.19112	0.55	0.22961	N	0.998504	B;B;B	0.14012	0.001;0.009;0.009	B;B;B	0.15484	0.006;0.013;0.013	T	0.37174	-0.9717	10	0.16896	T	0.51	.	5.1017	0.14762	0.486:0.1528:0.0:0.3612	.	600;733;718	Q8NDB2-4;Q8NDB2;Q8NDB2-2	.;BANK1_HUMAN;.	D	718;733;600;600;703	ENSP00000421443:E718D;ENSP00000320509:E733D;ENSP00000412748:E600D;ENSP00000422314:E600D;ENSP00000388817:E703D	ENSP00000320509:E733D	E	+	3	2	BANK1	103203305	1.000000	0.71417	0.992000	0.48379	0.829000	0.46940	1.023000	0.30065	0.009000	0.14813	0.459000	0.35465	GAA	BANK1	-	NULL	ENSG00000153064		0.358	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	-	0	72	0	A	NM_017935		102984282	1	tier1	-	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	50.00	25	25	SNP	1.000	C	C	102984282	A	C	102984282	3	2	79	1	0	0	0	0	1	0	0	0	1310	69	3	4	2249	4	BANK1	4	102984282	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	7760948	102984282	88169994	72	20728											
PCDH18	54510	genome.wustl.edu	37	chr4	138451944	138451944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcagcgattacagtCaaactatactcagatctctt	11	13	5	12	1	4	1	3	0	1	1	6	2	5	1	1	0	4	0	1	0	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:138451944C>A	ENST00000344876.4	-	1	1685	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.L433F|PCDH18_ENST00000507846.1_Missense_Mutation_p.L213F	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGATTACAGTCAAACTATACT	0.378																																																	0													136	137	137					4																	138451944		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1299G>T	4.37:g.138451944C>A	ENSP00000355082:p.Leu433Phe		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L433F	ENST00000344876.4	37	c.1299	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632137	0.67015	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.56776	0.44;0.44;0.44	6.04	6.04	0.98038	Cadherin (4);Cadherin-like (1);	0.000000	0.35525	N	0.003142	T	0.77267	0.4105	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.78548	-0.2162	10	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	213;433;433	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	F	433;433;213	ENSP00000355082:L433F;ENSP00000390688:L433F;ENSP00000425903:L213F	ENSP00000355082:L433F	L	-	3	2	PCDH18	138671394	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.883000	0.56168	2.873000	0.98535	0.563000	0.77884	TTG	PCDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.378	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	46	0	C	NM_019035		138451944	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	A	A	138451944	C	A	138451944	3	1	79	1	0	0	0	0	1	0	0	0	11552	825	29	3	2124	3	PCDH18	4	138451944	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	35467662	138451944	52702332	73	20729											
PCDH18	54510	genome.wustl.edu	37	chr4	138452917	138452917	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtagagtgatcacaTcaaactctatggaacagttc	12	11	10	8	0	3	2	2	1	1	1	4	3	3	3	0	2	2	2	0	2	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:138452917T>G	ENST00000344876.4	-	1	712	c.326A>C	c.(325-327)gAt>gCt	p.D109A	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D109A|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGTGATCACATCAAACTCTAT	0.408																																																	0													144	141	142					4																	138452917		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.326A>C	4.37:g.138452917T>G	ENSP00000355082:p.Asp109Ala		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D109A	ENST00000344876.4	37	c.326	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	T	29.1	4.981165	0.93044	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.27402	1.67;1.67	5.96	5.96	0.96718	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.44285	U	0.000478	T	0.61615	0.2361	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	T	0.67780	-0.5582	10	0.87932	D	0	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	109;109	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	A	109	ENSP00000355082:D109A;ENSP00000390688:D109A	ENSP00000355082:D109A	D	-	2	0	PCDH18	138672367	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.991000	0.88244	2.284000	0.76573	0.528000	0.53228	GAT	PCDH18	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000189184		0.408	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	89	0	T	NM_019035		138452917	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	46.88	34	30	SNP	1.000	G	G	138452917	T	G	138452917	3	3	79	1	0	0	0	0	1	0	0	0	11552	1435	50	4	3097	4	PCDH18	4	138452917	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	973	138452917	52701359	74	20730											
GYPB	2994	genome.wustl.edu	37	chr4	144922415	144922415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccacctcagtggtacttAatgctgatatgctcacaatt	10	14	7	10	0	2	1	2	1	0	0	2	1	2	1	2	1	4	3	2	1	4	5	rs189622883	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr4:144922415A>G	ENST00000502664.1	-	2	110	c.59T>C	c.(58-60)tTa>tCa	p.L20S	GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Missense_Mutation_p.L20S|GYPB_ENST00000283126.7_Missense_Mutation_p.L20S|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000513128.1_Intron	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	20						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGTGGTACTTAATGCTGATAT	0.353																																																	0													129	161	150					4																	144922415		2196	4300	6496	SO:0001583	missense	0				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"CD molecules", "Blood group antigens"	4703	protein-coding gene	gene with protein product		111740	"glycophorin B (includes Ss blood group)", "glycophorin B (Ss blood group)"	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.59T>C	4.37:g.144922415A>G	ENSP00000427690:p.Leu20Ser		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	pfam_Glycophorin	p.L20S	ENST00000502664.1	37	c.59	CCDS54809.1	4	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174631	0.09391	.	.	ENSG00000250361	ENST00000283126;ENST00000502664;ENST00000429670	T;T;T	0.04406	4.6;4.6;3.63	1.55	0.248	0.15526	.	.	.	.	.	T	0.03520	0.0101	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43621	-0.9380	8	0.51188	T	0.08	.	2.4243	0.04455	0.2725:0.0:0.2871:0.4404	.	20	E2QBW7	.	S	20	ENSP00000283126:L20S;ENSP00000427690:L20S;ENSP00000394200:L20S	ENSP00000283126:L20S	L	-	2	0	GYPB	145141865	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.249000	0.00266	-0.311000	0.08754	-1.389000	0.01157	TTA	GYPB	-	NULL	ENSG00000250361		0.353	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYPB	HGNC	protein_coding	OTTHUMT00000364791.1	-	0	187	0	A	NM_002100		144922415	-1	tier1	-	no_errors	ENST00000283126	ensembl	human	known	74_37	missense	33.83	88	45	SNP	0.000	G	G	144922415	A	G	144922415	3	3	79	1	0	0	0	0	1	0	0	0	6936	372	13	4	232	4	GYPB	4	144922415	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	6469498	144922415	46231861	75	20731											
DNAH5	1767	genome.wustl.edu	37	chr5	13824430	13824430	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatgttacgcaggccaaAgtcataatgaacctagagaa	17	7	9	8	1	1	3	1	1	0	2	1	4	1	3	2	1	2	2	2	1	7	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:13824430A>C	ENST00000265104.4	-	39	6561	c.6457T>G	c.(6457-6459)Ttt>Gtt	p.F2153V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2153	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCAGGCCAAAGTCATAATGA	0.403									Kartagener syndrome																																								0													98	92	94					5																	13824430		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6457T>G	5.37:g.13824430A>C	ENSP00000265104:p.Phe2153Val		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F2153V	ENST00000265104.4	37	c.6457	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	A	28.9	4.962445	0.92791	.	.	ENSG00000039139	ENST00000265104	T	0.09723	2.95	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	H	0.97131	3.945	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.67114	-0.5752	10	0.87932	D	0	.	16.0095	0.80391	1.0:0.0:0.0:0.0	.	2153	Q8TE73	DYH5_HUMAN	V	2153	ENSP00000265104:F2153V	ENSP00000265104:F2153V	F	-	1	0	DNAH5	13877430	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.178000	0.69098	0.528000	0.53228	TTT	DNAH5	-	superfamily_P-loop_NTPase	ENSG00000039139		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	49	0	A	NM_001369		13824430	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	37.50	25	15	SNP	1.000	C	C	13824430	A	C	13824430	3	2	79	1	0	0	0	0	1	0	0	0	4618	72	3	4	7581	4	DNAH5	5	13824430	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09		13824430	167090830	76	20732											
FBXL7	23194	genome.wustl.edu	37	chr5	15936643	15936643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaaacagatttccatccGctacctggacatgacggact	11	9	9	12	2	0	2	0	1	0	1	2	4	2	4	3	3	2	2	3	3	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:15936643G>A	ENST00000504595.1	+	4	1305	c.824G>A	c.(823-825)cGc>cAc	p.R275H	FBXL7_ENST00000329673.7_Missense_Mutation_p.R263H|MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R228H	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	275					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R275H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATTTCCATCCGCTACCTGGAC	0.592																																																	1	Substitution - Missense(1)	large_intestine(1)											71	72	72					5																	15936643		2181	4280	6461	SO:0001583	missense	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.824G>A	5.37:g.15936643G>A	ENSP00000423630:p.Arg275His		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R275H	ENST00000504595.1	37	c.824	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727909	0.48833	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.01981	4.52;4.52;4.52	5.16	5.16	0.70880	.	0.048221	0.85682	D	0.000000	T	0.02193	0.0068	N	0.12182	0.205	0.54753	D	0.999987	B	0.22003	0.063	B	0.15052	0.012	T	0.61569	-0.7036	10	0.48119	T	0.1	.	18.6513	0.91431	0.0:0.0:1.0:0.0	.	275	Q9UJT9	FBXL7_HUMAN	H	275;228;263	ENSP00000423630:R275H;ENSP00000425184:R228H;ENSP00000329632:R263H	ENSP00000329632:R263H	R	+	2	0	FBXL7	15989643	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.785000	0.85724	2.414000	0.81942	0.655000	0.94253	CGC	FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000183580		0.592	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1		0	41	0	G	NM_012304		15936643	1			no_errors	ENST00000504595	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	A	A	15936643	G	A	15936643	3	1	79	1	0	0	0	0	1	0	0	0	5746	1087	38	1	838	1	FBXL7	5	15936643	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2112213	15936643	164978617	77	20733											
CDH9	1007	genome.wustl.edu	37	chr5	26902779	26902779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtaagaatcgtggatcaggGtgagtgttacttgcatccac	10	12	12	7	1	1	2	1	1	0	1	3	3	2	3	1	2	2	3	1	2	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:26902779G>T	ENST00000231021.4	-	7	1231	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	353	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GTGGATCAGGGTGAGTGTTAC	0.353																																					Melanoma(8;187 585 15745 40864 52829)												0													96	94	95					5																	26902779		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1059C>A	5.37:g.26902779G>T	ENSP00000231021:p.His353Gln		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H353Q	ENST00000231021.4	37	c.1059	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965732	0.53507	.	.	ENSG00000113100	ENST00000231021	T	0.37584	1.19	5.62	-4.19	0.03835	Cadherin (4);Cadherin-like (1);	0.100023	0.64402	D	0.000003	T	0.35682	0.0940	M	0.64170	1.965	0.37130	D	0.901222	B	0.27656	0.184	B	0.37144	0.242	T	0.30650	-0.9971	9	.	.	.	.	14.6495	0.68786	0.7384:0.0:0.2616:0.0	.	353	Q9ULB4	CADH9_HUMAN	Q	353	ENSP00000231021:H353Q	.	H	-	3	2	CDH9	26938536	0.003000	0.15002	0.933000	0.37362	0.992000	0.81027	-0.425000	0.07017	-0.720000	0.04935	0.650000	0.86243	CAC	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113100		0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1		0	59	0	G	NM_016279		26902779	-1			no_errors	ENST00000231021	ensembl	human	known	74_37	missense	7.32	37	3	SNP	0.890	T	T	26902779	G	T	26902779	3	4	79	1	0	0	0	0	1	0	0	0	3124	1252	44	3	1334	3	CDH9	5	26902779	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	10966136	26902779	154012481	78	20734											
CDH6	1004	genome.wustl.edu	37	chr5	31305342	31305342	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagcctccaatccttatgTtgagccacgatttctctact	9	13	7	12	1	1	1	0	1	1	0	4	3	3	2	4	1	3	1	4	1	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:31305342T>G	ENST00000265071.2	+	7	1326	c.1061T>G	c.(1060-1062)gTt>gGt	p.V354G	CDH6_ENST00000514738.1_Missense_Mutation_p.V299G	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	354	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATCCTTATGTTGAGCCACGA	0.458																																																	0													92	90	91					5																	31305342		2203	4300	6503	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1061T>G	5.37:g.31305342T>G	ENSP00000265071:p.Val354Gly		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V354G	ENST00000265071.2	37	c.1061	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	T	18.71	3.681590	0.68042	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.36878	1.23;1.23	5.88	4.73	0.59995	Cadherin (4);Cadherin-like (1);	0.528423	0.20511	N	0.090892	T	0.35219	0.0924	L	0.41079	1.255	0.22412	N	0.999122	P;P	0.39940	0.607;0.696	B;B	0.43838	0.395;0.433	T	0.27905	-1.0060	10	0.62326	D	0.03	.	11.3785	0.49743	0.0:0.0702:0.0:0.9298	.	354;354	P55285;P55285-2	CADH6_HUMAN;.	G	299;354	ENSP00000424843:V299G;ENSP00000265071:V354G	ENSP00000265071:V354G	V	+	2	0	CDH6	31341099	0.287000	0.24315	0.020000	0.16555	0.968000	0.65278	3.133000	0.50531	2.243000	0.73865	0.533000	0.62120	GTT	CDH6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113361		0.458	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0	141	0	T	NM_004932		31305342	1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	missense	43.30	55	42	SNP	0.016	G	G	31305342	T	G	31305342	3	3	79	1	0	0	0	0	1	0	0	0	3121	1725	60	4	1083	4	CDH6	5	31305342	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	4402563	31305342	149609918	79	20735											
RNASEN	29102	genome.wustl.edu	37	chr5	31424571	31424571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataattgagccagacttcgCgcaggtcctggaaaatggag	12	8	13	8	2	0	2	0	1	0	1	2	5	1	4	2	3	1	1	2	3	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:31424571C>T	ENST00000511367.2	-	27	3468	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1075	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCAGACTTCGCGCAGGTCCTG	0.423																																																	0													105	106	105					5																	31424571		1940	4145	6085	SO:0001583	missense	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3224G>A	5.37:g.31424571C>T	ENSP00000425979:p.Arg1075His		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.R1075H	ENST00000511367.2	37	c.3224	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950818	0.53186	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.46819	1.44;1.44;0.86;0.86	5.41	5.41	0.78517	Ribonuclease III (2);	0.056790	0.64402	D	0.000003	T	0.34193	0.0889	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.17852	0.024;0.017	B;B	0.17433	0.008;0.018	T	0.12372	-1.0550	10	0.13470	T	0.59	-16.8708	17.7429	0.88412	0.0:1.0:0.0:0.0	.	1038;1075	E7EMP9;Q9NRR4	.;RNC_HUMAN	H	1075;1075;1038;1038;1000;1031	ENSP00000425979:R1075H;ENSP00000339845:R1075H;ENSP00000409335:R1038H;ENSP00000424161:R1038H	ENSP00000265075:R1000H	R	-	2	0	DROSHA	31460328	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	4.861000	0.62969	2.691000	0.91804	0.650000	0.86243	CGC	DROSHA	-	superfamily_RNase_III_dom,smart_RNase_III_dom	ENSG00000113360		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0	57	0	C	NM_013235		31424571	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	31424571	C	T	31424571	3	4	79	1	0	0	0	0	1	0	0	0	13462	768	27	1	936	1	RNASEN	5	31424571	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	119229	31424571	149490689	80	20736											
PRLR	5618	genome.wustl.edu	37	chr5	35086442	35086442	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttttccaggaggtaactgtCctagaaaaagccagaagcca	14	8	10	9	0	0	2	0	0	0	2	2	3	2	3	4	2	3	2	4	2	5	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:35086442C>T	ENST00000382002.5	-	4	497	c.71G>A	c.(70-72)gGa>gAa	p.G24E	PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Splice_Site_p.G24E|PRLR_ENST00000231423.3_Splice_Site_p.G24E|PRLR_ENST00000542609.1_Splice_Site_p.G24E|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Splice_Site_p.G24E|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000513753.1_Splice_Site_p.G24E	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	24					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGGTAACTGTCCTAGAAAAAG	0.468																																																	0													71	67	68					5																	35086442		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.71-1G>A	5.37:g.35086442C>T			B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G24E	ENST00000382002.5	37	c.71	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789545	0.70337	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330;ENST00000504500;ENST00000515839	T;T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.75	4.88	0.63580	Fibronectin, type III (1);	0.155531	0.56097	D	0.000030	T	0.81489	0.4833	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.996;0.996	D	0.84157	0.0426	10	0.87932	D	0	.	15.6567	0.77140	0.0:0.8619:0.1381:0.0	.	24;24;24;24	P16471;P16471-7;P16471-6;P16471-4	PRLR_HUMAN;.;.;.	E	24	ENSP00000231423:G24E;ENSP00000424841:G24E;ENSP00000311613:G24E;ENSP00000441813:G24E;ENSP00000371432:G24E;ENSP00000309008:G24E;ENSP00000423493:G24E;ENSP00000427060:G24E;ENSP00000422385:G24E;ENSP00000422867:G24E;ENSP00000421864:G24E	ENSP00000231423:G24E	G	-	2	0	PRLR	35122199	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	2.299000	0.43611	1.412000	0.46977	0.561000	0.74099	GGA	PRLR	-	superfamily_Fibronectin_type3	ENSG00000113494		0.468	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	-	0	88	0	C		Missense_Mutation	35086442	-1	tier1	-	no_errors	ENST00000382002	ensembl	human	known	74_37	missense	17.74	51	11	SNP	1.000	T	T	35086442	C	T	35086442	5	4	79	1	0	0	0	0	0	0	1	0	12573	869	30	3	1825	3	PRLR	5	35086442	Splice_Site	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	3661871	35086442	145828818	81	20737											
SPEF2	79925	genome.wustl.edu	37	chr5	35654807	35654807	+	Frame_Shift_Del	DEL	A	A	-																															aaattgttaatggaccagttAatagcccacgaagcacaaga																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:35654807delA	ENST00000356031.3	+	7	1111	c.957delA	c.(955-957)ttafs	p.L319fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.L319fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.L319fs|SPEF2_ENST00000282469.6_Frame_Shift_Del_p.L319fs	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	319					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGACCAGTTAATAGCCCACG	0.378																																																	0													72	70	70					5																	35654807		2203	4300	6503	SO:0001589	frameshift_variant	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.957delA	5.37:g.35654807delA	ENSP00000348314:p.Leu319fs		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.I320fs	ENST00000356031.3	37	c.957	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.378	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1		0	69	0	A	NM_144722		35654807	1	tier1		no_errors	ENST00000356031	ensembl	human	known	74_37	frame_shift_del	23.21	43	13	DEL	0.988	-	-	35654807	A	-	35654807	7	5	79	1	0	1	0	1	0	0	0	0	15082	359	13	0	983	0	SPEF2	5	35654807	Frame_Shift_Del	DEL	A	TCGA-L5-A8NE-01A-11D-A37C-09	568365	35654807	145260453	82	20738	84	2									
SPEF2	79925	genome.wustl.edu	37	chr5	35654810	35654811	+	Frame_Shift_Del	DEL	AG	AG	-																															ttgttaatggaccagttaatAgcccacgaagcacaagaggt																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:35654810_35654811delAG	ENST00000356031.3	+	7	1114_1115	c.960_961delAG	c.(958-963)atagccfs	p.A321fs	SPEF2_ENST00000440995.2_Frame_Shift_Del_p.A321fs|SPEF2_ENST00000509059.1_Frame_Shift_Del_p.A321fs|SPEF2_ENST00000282469.6_Frame_Shift_Del_p.A321fs	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	321					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAGTTAATAGCCCACGAAGC	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.960_961delAG	5.37:g.35654810_35654811delAG	ENSP00000348314:p.Ala321fs		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Frame_Shift_Del	DEL	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.A321fs	ENST00000356031.3	37	c.960_961	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.371	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1		0	71	0	AG	NM_144722		35654811	1	tier1		no_errors	ENST00000356031	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	0.999:1.000	-	-	35654811	AG	-	35654810	7	5	79	1	0	1	0	1	0	0	0	0	15082	410	15	0	986	0	SPEF2	5	35654810	Frame_Shift_Del	DEL	AG	TCGA-L5-A8NE-01A-11D-A37C-09	3	35654810	145260450	83	20739	84	2									
NIPBL	25836	genome.wustl.edu	37	chr5	36984883	36984883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgggttctacgggaaatgGgtcaaggccagcattaatgg	11	8	15	7	2	2	0	1	0	1	0	2	2	2	1	1	5	2	2	1	5	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:36984883G>A	ENST00000282516.8	+	10	2100	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.G534E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	534					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACGGGAAATGGGTCAAGGCCA	0.463																																																	0													183	191	188					5																	36984883		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1601G>A	5.37:g.36984883G>A	ENSP00000282516:p.Gly534Glu		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G534E	ENST00000282516.8	37	c.1601	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992708	0.74703	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.96265	-3.95;-3.96	5.88	5.88	0.94601	.	0.056306	0.64402	D	0.000001	D	0.96537	0.8870	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94314	0.7548	10	0.16420	T	0.52	.	20.2422	0.98381	0.0:0.0:1.0:0.0	.	534;534	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	534	ENSP00000282516:G534E;ENSP00000406266:G534E	ENSP00000282516:G534E	G	+	2	0	NIPBL	37020640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.928000	0.92853	2.788000	0.95919	0.650000	0.86243	GGG	NIPBL	-	NULL	ENSG00000164190		0.463	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	85	0	G	NM_015384		36984883	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	A	A	36984883	G	A	36984883	3	1	79	1	0	0	0	0	1	0	0	0	10467	1232	43	3	1635	3	NIPBL	5	36984883	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1330073	36984883	143930377	84	20740											
EGFLAM	133584	genome.wustl.edu	37	chr5	38406988	38406988	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttttggtggaaagcaagaAgatgtctatatctaacccaa	15	12	8	6	0	2	2	0	0	2	2	2	3	2	3	1	2	2	1	1	2	7	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:38406988A>C	ENST00000354891.3	+	8	1233	c.887A>C	c.(886-888)aAg>aCg	p.K296T	EGFLAM_ENST00000336740.6_Missense_Mutation_p.K62T|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Missense_Mutation_p.K296T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	296					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAAAGCAAGAAGATGTCTATA	0.483																																					Colon(62;485 1295 3347 17454)												0													131	125	127					5																	38406988		2203	4300	6503	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.887A>C	5.37:g.38406988A>C	ENSP00000346964:p.Lys296Thr		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.K296T	ENST00000354891.3	37	c.887	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	A	6.613	0.481449	0.12581	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79141	0.87;0.7;-1.24	5.69	-7.42	0.01388	.	0.880465	0.10473	N	0.670565	T	0.50034	0.1592	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.43589	-0.9382	10	0.13853	T	0.58	-19.636	1.3109	0.02097	0.4145:0.1225:0.1353:0.3277	.	62;296;296	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	T	296;296;62;62	ENSP00000346964:K296T;ENSP00000313084:K296T;ENSP00000337607:K62T	ENSP00000313084:K296T	K	+	2	0	EGFLAM	38442745	0.008000	0.16893	0.001000	0.08648	0.068000	0.16541	-0.066000	0.11598	-0.996000	0.03455	-1.545000	0.00906	AAG	EGFLAM	-	NULL	ENSG00000164318		0.483	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0	41	0	A	NM_152403		38406988	1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.002	C	C	38406988	A	C	38406988	3	2	79	1	0	0	0	0	1	0	0	0	4980	72	3	4	931	4	EGFLAM	5	38406988	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1422105	38406988	142508272	85	20741											
ANKRA2	57763	genome.wustl.edu	37	chr5	72849286	72849286	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattatatccagagtcagtTtcaattgttggatcagcccc	11	13	8	9	0	3	1	3	0	0	1	4	3	4	2	3	1	1	2	3	1	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:72849286T>C	ENST00000296785.3	-	8	1489	c.831A>G	c.(829-831)gaA>gaG	p.E277E		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	277						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CAGAGTCAGTTTCAATTGTTG	0.358																																																	0													83	77	79					5																	72849286		2203	4299	6502	SO:0001819	synonymous_variant	0			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.831A>G	5.37:g.72849286T>C				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E277	ENST00000296785.3	37	c.831	CCDS4020.1	5																																																																																			ANKRA2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000164331		0.358	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRA2	HGNC	protein_coding	OTTHUMT00000219814.2	-	0	23	0	T	NM_023039		72849286	-1	tier1	-	no_errors	ENST00000296785	ensembl	human	known	74_37	silent	16.00	21	4	SNP	1.000	C	C	72849286	T	C	72849286	2	2	79	1	0	0	0	0	0	0	0	1	636	1838	64	4		4	ANKRA2	5	72849286	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	34442298	72849286	108065974	86	20742											
ANKRA2	57763	genome.wustl.edu	37	chr5	72857076	72857076	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagacatgccttacttgAattcccggagaaggagatgt	11	11	12	7	1	0	4	0	1	0	3	1	6	1	4	2	2	2	1	2	2	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:72857076A>C	ENST00000296785.3	-	3	985	c.327T>G	c.(325-327)atT>atG	p.I109M		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	109						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	low-density lipoprotein particle binding (GO:0030169)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GCCTTACTTGAATTCCCGGAG	0.378																																																	0													224	198	207					5																	72857076		2203	4300	6503	SO:0001583	missense	0			AA442702	CCDS4020.1	5q12-q13	2013-01-10			ENSG00000164331	ENSG00000164331		"Ankyrin repeat domain containing"	13208	protein-coding gene	gene with protein product		605787				10965114	Standard	NM_023039		Approved		uc003kcu.2	Q9H9E1	OTTHUMG00000102030	ENST00000296785.3:c.327T>G	5.37:g.72857076A>C	ENSP00000296785:p.Ile109Met			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I109M	ENST00000296785.3	37	c.327	CCDS4020.1	5	.	.	.	.	.	.	.	.	.	.	A	17.58	3.424798	0.62733	.	.	ENSG00000164331	ENST00000296785	T	0.40225	1.04	5.03	1.33	0.21861	Ankyrin repeat-containing domain (1);	0.095769	0.64402	D	0.000001	T	0.32882	0.0844	L	0.44542	1.39	0.50632	D	0.999887	B	0.29085	0.232	B	0.32533	0.147	T	0.05632	-1.0873	10	0.33940	T	0.23	-10.8454	9.0076	0.36122	0.5843:0.0:0.4157:0.0	.	109	Q9H9E1	ANRA2_HUMAN	M	109	ENSP00000296785:I109M	ENSP00000296785:I109M	I	-	3	3	ANKRA2	72892832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.384000	0.34396	-0.005000	0.14395	0.374000	0.22700	ATT	ANKRA2	-	NULL	ENSG00000164331		0.378	ANKRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRA2	HGNC	protein_coding	OTTHUMT00000219814.2	-	0	83	0	A	NM_023039		72857076	-1	tier1	-	no_errors	ENST00000296785	ensembl	human	known	74_37	missense	21.88	50	14	SNP	0.994	C	C	72857076	A	C	72857076	3	2	79	1	0	0	0	0	1	0	0	0	636	242	9	4	642	4	ANKRA2	5	72857076	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	7790	72857076	108058184	87	20743											
MSH3	4437	genome.wustl.edu	37	chr5	79966124	79966124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagattctttggggaagatgCagaggtaagtcgtcttttca	10	14	12	5	1	3	3	1	0	2	3	4	4	3	4	0	3	1	2	0	3	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:79966124C>T	ENST00000265081.6	+	4	868	c.788C>T	c.(787-789)gCa>gTa	p.A263V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	263	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGGGAAGATGCAGAGGTAAGT	0.343								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)												0													132	135	134					5																	79966124		2203	4300	6503	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"Divergent upstream protein", "Mismatch repair protein 1"	600887	"mutS (E. coli) homolog 3", "mutS homolog 3 (E. coli)"				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.788C>T	5.37:g.79966124C>T	ENSP00000265081:p.Ala263Val		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.A263V	ENST00000265081.6	37	c.788	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.331882	0.95733	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.96554	-4.05	5.67	5.67	0.87782	DNA mismatch repair protein MutS, N-terminal (2);DNA mismatch repair protein MutS-like, N-terminal (1);	0.112937	0.64402	D	0.000019	D	0.99004	0.9660	H	0.98256	4.185	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99218	1.0878	9	.	.	.	-19.1845	19.3818	0.94540	0.0:1.0:0.0:0.0	.	263	P20585	MSH3_HUMAN	V	263;254	ENSP00000265081:A263V	.	A	+	2	0	MSH3	80001880	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.402000	0.79972	2.666000	0.90696	0.655000	0.94253	GCA	MSH3	-	pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N	ENSG00000113318		0.343	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	-	0	38	0	C	NM_002439		79966124	1	tier1	-	no_errors	ENST00000265081	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	79966124	C	T	79966124	3	4	79	1	0	0	0	0	1	0	0	0	9909	710	25	3	802	3	MSH3	5	79966124	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	7109048	79966124	100949136	88	20744											
VCAN	1462	genome.wustl.edu	37	chr5	82815484	82815484	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagctagacatatcAgaaattaaggaagaagtgct	17	9	10	5	0	1	3	1	0	0	3	1	5	1	5	0	2	2	2	0	2	7	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:82815484A>G	ENST00000265077.3	+	7	1924	c.1359A>G	c.(1357-1359)tcA>tcG	p.S453S	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.S453S|VCAN_ENST00000512590.2_Silent_p.S405S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	453	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TAGACATATCAGAAATTAAGG	0.463																																																	0													78	80	79					5																	82815484		2203	4300	6503	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1359A>G	5.37:g.82815484A>G			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.S453	ENST00000265077.3	37	c.1359	CCDS4060.1	5																																																																																			VCAN	-	NULL	ENSG00000038427		0.463	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0	38	0	A	NM_004385		82815484	1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.996	G	G	82815484	A	G	82815484	2	3	79	1	0	0	0	0	0	0	0	1	17187	175	7	4		4	VCAN	5	82815484	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	2849360	82815484	98099776	89	20745											
RGMB	285704	genome.wustl.edu	37	chr5	98129163	98129163	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagcctgcctcgcacCtccttggtgcaggcctggcc	5	7	12	17	1	0	0	0	0	0	0	2	1	1	1	6	4	3	2	6	4	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:98129163C>A	ENST00000513185.1	+	3	1456	c.1020C>A	c.(1018-1020)acC>acA	p.T340T	RGMB_ENST00000308234.7_Silent_p.T381T			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	340					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TGCCTCGCACCTCCTTGGTGC	0.597																																																	0													44	44	44					5																	98129163		2097	4230	6327	SO:0001819	synonymous_variant	0			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"RGM domain family, member B"			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.1020C>A	5.37:g.98129163C>A			D6R9A0|Q8NC92	Silent	SNP	pfam_RGM_C,pfam_RGM_N	p.T381	ENST00000513185.1	37	c.1143		5																																																																																			RGMB	-	pfam_RGM_C	ENSG00000174136		0.597	RGMB-003	KNOWN	basic	protein_coding	RGMB	HGNC	protein_coding	OTTHUMT00000370308.1	-	0	18	0	C	NM_173670		98129163	1	tier1	-	no_errors	ENST00000308234	ensembl	human	known	74_37	silent	35.71	9	5	SNP	0.000	A	A	98129163	C	A	98129163	2	1	79	1	0	0	0	0	0	0	0	1	13326	668	24	3		3	RGMB	5	98129163	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	15313679	98129163	82786097	90	20746											
SEMA6A	57556	genome.wustl.edu	37	chr5	115823894	115823894	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaacaaagtatggttcTgtagacaaacaggcacttta	14	11	9	7	0	1	2	0	1	1	1	1	2	1	2	0	2	2	5	0	2	6	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:115823894T>G	ENST00000343348.6	-	9	1443		c.e9-2		CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Splice_Site|SEMA6A_ENST00000257414.8_Splice_Site|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000503962.1_5'Flank	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGTATGGTTCTGTAGACAAAC	0.383																																																	0													77	70	72					5																	115823894		1863	4111	5974	SO:0001630	splice_region_variant	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.656-2A>C	5.37:g.115823894T>G			Q9P2H9	Splice_Site	SNP	-	e8-2	ENST00000343348.6	37	c.656-2	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	T	14.71	2.615522	0.46631	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2215	0.82262	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA6A	115851793	1.000000	0.71417	0.999000	0.59377	0.446000	0.32137	7.997000	0.88414	2.367000	0.80283	0.528000	0.53228	.	SEMA6A	-	-	ENSG00000092421		0.383	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	-	0	79	0	T	NM_020796	Intron	115823894	-1	tier1	-	no_errors	ENST00000257414	ensembl	human	known	74_37	splice_site	55.32	21	26	SNP	1.000	G	G	115823894	T	G	115823894	5	3	79	1	0	0	0	0	0	0	1	0	14084	1594	55	4	2482	4	SEMA6A	5	115823894	Splice_Site	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	17694731	115823894	65091366	91	20747											
FBN2	2201	genome.wustl.edu	37	chr5	127642855	127642855	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgtgtgaatgtcaaaGgtgaatccaggaatatttcc	11	14	9	7	0	1	2	1	2	0	0	4	3	4	3	3	2	0	0	3	2	5	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:127642855G>T	ENST00000508053.1	-	48	6368	c.5394C>A	c.(5392-5394)acC>acA	p.T1798T	FBN2_ENST00000262464.4_Silent_p.T1798T			P35556	FBN2_HUMAN	fibrillin 2	1798					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAATGTCAAAGGTGAATCCAG	0.289																																																	0													94	99	97					5																	127642855		2203	4296	6499	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5394C>A	5.37:g.127642855G>T			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.T1798	ENST00000508053.1	37	c.5394	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,superfamily_TB_dom	ENSG00000138829		0.289	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	81	0	G	NM_001999		127642855	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	127642855	G	T	127642855	2	4	79	1	0	0	0	0	0	0	0	1	5725	987	35	3		3	FBN2	5	127642855	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	11818961	127642855	53272405	92	20748											
CHSY3	337876	genome.wustl.edu	37	chr5	129520931	129520931	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagagttttccagaggtcTtggtcttgaaatggcttctg	7	14	14	6	0	3	3	0	1	3	2	4	4	4	3	1	4	0	2	1	4	1	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:129520931T>G	ENST00000305031.4	+	3	2454	c.2096T>G	c.(2095-2097)cTt>cGt	p.L699R		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	699					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCCAGAGGTCTTGGTCTTGAA	0.433																																																	0													88	83	84					5																	129520931		2203	4300	6503	SO:0001583	missense	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2096T>G	5.37:g.129520931T>G	ENSP00000302629:p.Leu699Arg		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.L699R	ENST00000305031.4	37	c.2096	CCDS34223.1	5	.	.	.	.	.	.	.	.	.	.	T	16.27	3.076978	0.55753	.	.	ENSG00000198108	ENST00000305031	T	0.31510	1.49	4.33	4.33	0.51752	.	0.000000	0.44688	D	0.000433	T	0.26846	0.0657	L	0.37507	1.11	0.58432	D	0.999999	P	0.42123	0.771	B	0.41135	0.348	T	0.03166	-1.1065	9	.	.	.	-4.8226	14.5729	0.68224	0.0:0.0:0.0:1.0	.	699	Q70JA7	CHSS3_HUMAN	R	699	ENSP00000302629:L699R	.	L	+	2	0	CHSY3	129548830	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.087000	0.71362	2.171000	0.68590	0.528000	0.53228	CTT	CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.433	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	-	0	28	0	T	NM_175856		129520931	1	tier1	-	no_errors	ENST00000305031	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	G	G	129520931	T	G	129520931	3	3	79	1	0	0	0	0	1	0	0	0	3420	1609	56	4	2106	4	CHSY3	5	129520931	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	1878076	129520931	51394329	93	20749											
CTNNA1	1495	genome.wustl.edu	37	chr5	138221961	138221961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagataaaatgaccaagaagAccagggacttgcgtagacag	17	6	11	7	1	0	5	0	1	0	4	0	6	0	6	2	1	1	1	2	1	6	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:138221961A>G	ENST00000302763.7	+	8	1213	c.1123A>G	c.(1123-1125)Acc>Gcc	p.T375A	CTNNA1_ENST00000355078.5_Missense_Mutation_p.T272A|CTNNA1_ENST00000540387.1_Missense_Mutation_p.T5A|CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.T375A	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	375	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACCAAGAAGACCAGGGACTT	0.363																																																	0													145	154	151					5																	138221961		2203	4300	6503	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1123A>G	5.37:g.138221961A>G	ENSP00000304669:p.Thr375Ala		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T375A	ENST00000302763.7	37	c.1123	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769816	0.69992	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000518381;ENST00000522013;ENST00000520260;ENST00000523298;ENST00000520865;ENST00000519634;ENST00000517533;ENST00000523685;ENST00000519768;ENST00000517656;ENST00000521683;ENST00000521640;ENST00000519116;ENST00000540387;ENST00000520522	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.40862	0.1134	L	0.55017	1.72	0.80722	D	1	B;B;B	0.27732	0.187;0.06;0.016	B;B;B	0.31495	0.131;0.078;0.093	T	0.22138	-1.0225	10	0.16420	T	0.52	-18.8373	15.6152	0.76760	1.0:0.0:0.0:0.0	.	375;252;375	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	A	272;375;375;360;375;5;5;5;5;5;5;5;5;5;5;5;5;5;5;5	ENSP00000347190:T272A;ENSP00000304669:T375A;ENSP00000427821:T375A;ENSP00000429738:T5A;ENSP00000430379:T5A;ENSP00000429569:T5A;ENSP00000428044:T5A;ENSP00000430841:T5A;ENSP00000428088:T5A;ENSP00000431118:T5A;ENSP00000430240:T5A;ENSP00000430177:T5A;ENSP00000430981:T5A;ENSP00000430623:T5A;ENSP00000428894:T5A;ENSP00000438476:T5A;ENSP00000428710:T5A	ENSP00000304669:T375A	T	+	1	0	CTNNA1	138249860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.288000	0.96055	2.170000	0.68504	0.460000	0.39030	ACC	CTNNA1	-	pfam_Vinculin/catenin,prints_Alpha_catenin	ENSG00000044115		0.363	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0	62	0	A	NM_001903		138221961	1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	26.79	41	15	SNP	1.000	G	G	138221961	A	G	138221961	3	3	79	1	0	0	0	0	1	0	0	0	4021	275	10	4	1149	4	CTNNA1	5	138221961	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	8701030	138221961	42693299	94	20750											
NR3C1	2908	genome.wustl.edu	37	chr5	142689724	142689724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctgggcagttttttcttCgaattttatcgatgatgcaa	9	17	9	6	2	1	1	0	1	1	0	3	3	1	1	0	1	2	4	0	1	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:142689724C>T	ENST00000343796.2	-	4	2399	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	NR3C1_ENST00000394466.2_Missense_Mutation_p.R470Q|NR3C1_ENST00000415690.2_Missense_Mutation_p.R469Q|NR3C1_ENST00000504572.1_Missense_Mutation_p.R470Q|NR3C1_ENST00000424646.2_Missense_Mutation_p.R443Q|NR3C1_ENST00000416954.2_Missense_Mutation_p.R72Q|NR3C1_ENST00000231509.3_Missense_Mutation_p.R470Q|NR3C1_ENST00000503201.1_Missense_Mutation_p.R469Q|NR3C1_ENST00000394464.2_Missense_Mutation_p.R469Q|NR3C1_ENST00000504336.1_5'UTR	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	469					adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.R470Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	GTTTTTTCTTCGAATTTTATC	0.378																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											86	84	84					5																	142689724		2203	4300	6503	SO:0001583	missense	0			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"Nuclear hormone receptors"	7978	protein-coding gene	gene with protein product		138040	"nuclear receptor subfamily 3, group C, member 1"	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.1406G>A	5.37:g.142689724C>T	ENSP00000343205:p.Arg469Gln		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	pfam_Glcrtcd_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Glcrtcd_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R470Q	ENST00000343796.2	37	c.1409	CCDS4278.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.132066	0.97310	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.28;-4.28	6.06	6.06	0.98353	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.059973	0.64402	D	0.000003	D	0.98150	0.9389	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98645	1.0677	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	469;469;470	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	Q	469;469;469;469;443;470;470;470;72;469	ENSP00000377977:R469Q;ENSP00000343205:R469Q;ENSP00000387672:R469Q;ENSP00000405282:R443Q;ENSP00000422518:R470Q;ENSP00000377979:R470Q;ENSP00000231509:R470Q;ENSP00000404218:R72Q;ENSP00000427672:R469Q	ENSP00000231509:R470Q	R	-	2	0	NR3C1	142669917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.794000	0.85869	2.882000	0.98803	0.655000	0.94253	CGA	NR3C1	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000113580		0.378	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	NR3C1	HGNC	protein_coding	OTTHUMT00000370829.1	-	0	59	0	C			142689724	-1	tier1	-	no_errors	ENST00000231509	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	142689724	C	T	142689724	3	4	79	1	0	0	0	0	1	0	0	0	10669	884	31	1	1003	1	NR3C1	5	142689724	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	4467763	142689724	38225536	95	20751											
KIF4B	285643	genome.wustl.edu	37	chr5	154395563	154395563	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgccaacaagcgactcaAggatgctctccagaaacaac	15	5	8	13	1	2	1	1	0	1	1	3	3	2	2	2	1	7	2	2	1	5	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:154395563A>C	ENST00000435029.4	+	1	2304	c.2144A>C	c.(2143-2145)aAg>aCg	p.K715T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	715	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGCGACTCAAGGATGCTCTC	0.483																																																	0													89	90	90					5																	154395563		2203	4300	6503	SO:0001583	missense	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2144A>C	5.37:g.154395563A>C	ENSP00000387875:p.Lys715Thr			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K715T	ENST00000435029.4	37	c.2144	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	a	15.54	2.864159	0.51482	.	.	ENSG00000226650	ENST00000435029	T	0.17054	2.3	2.54	-0.147	0.13428	.	.	.	.	.	T	0.36054	0.0953	M	0.83603	2.65	0.49798	D	0.999828	D	0.71674	0.998	D	0.66716	0.946	T	0.18366	-1.0339	9	0.87932	D	0	.	6.1208	0.20151	0.7073:0.0:0.2927:0.0	.	715	Q2VIQ3	KIF4B_HUMAN	T	715	ENSP00000387875:K715T	ENSP00000387875:K715T	K	+	2	0	KIF4B	154375756	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.312000	0.43726	0.075000	0.16796	0.460000	0.39030	AAG	KIF4B	-	NULL	ENSG00000226650		0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	-	0	83	0	A			154395563	1	tier1	-	no_errors	ENST00000435029	ensembl	human	known	74_37	missense	54.00	23	27	SNP	1.000	C	C	154395563	A	C	154395563	3	2	79	1	0	0	0	0	1	0	0	0	8331	72	3	4	2146	4	KIF4B	5	154395563	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	11705839	154395563	26519697	96	20752											
TIMD4	91937	genome.wustl.edu	37	chr5	156381443	156381443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctctgtagattcaggCgcacgtttatctttacatcg	8	15	7	11	3	3	1	1	0	2	1	5	1	3	1	1	1	2	3	1	1	4	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:156381443C>T	ENST00000274532.2	-	2	439	c.383G>A	c.(382-384)cGc>cAc	p.R128H	TIMD4_ENST00000407087.3_Missense_Mutation_p.R128H	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	128						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGATTCAGGCGCACGTTTAT	0.507																																																	0													69	64	65					5																	156381443		2203	4300	6503	SO:0001583	missense	0			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"Immunoglobulin superfamily / V-set domain containing"	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.383G>A	5.37:g.156381443C>T	ENSP00000274532:p.Arg128His		B5MCL9	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R128H	ENST00000274532.2	37	c.383	CCDS4332.1	5	.	.	.	.	.	.	.	.	.	.	c	18.40	3.615891	0.66672	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.18502	2.21;2.22	5.61	-5.81	0.02340	Immunoglobulin subtype (1);	0.819425	0.10591	N	0.656728	T	0.11537	0.0281	L	0.41573	1.285	0.09310	N	1	B;B	0.28208	0.045;0.203	B;B	0.16722	0.016;0.016	T	0.18999	-1.0319	10	0.49607	T	0.09	-2.1544	11.1474	0.48438	0.1087:0.1433:0.0:0.748	.	128;128	B5MCL9;Q96H15	.;TIMD4_HUMAN	H	128	ENSP00000274532:R128H;ENSP00000385973:R128H	ENSP00000274532:R128H	R	-	2	0	TIMD4	156314021	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.154000	0.10130	-0.786000	0.04516	-0.136000	0.14681	CGC	TIMD4	-	smart_Ig_sub	ENSG00000145850		0.507	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMD4	HGNC	protein_coding	OTTHUMT00000252568.1	-	0	28	0	C	NM_138379		156381443	-1	tier1	-	no_errors	ENST00000274532	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.000	T	T	156381443	C	T	156381443	3	4	79	1	0	0	0	0	1	0	0	0	15950	768	27	1	785	1	TIMD4	5	156381443	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	1985880	156381443	24533817	97	20753											
FAM71B	153745	genome.wustl.edu	37	chr5	156590064	156590064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttcactcatgtagccttcGctttgcaaggtggagatgag	8	12	12	9	2	2	2	2	1	0	1	3	3	2	2	1	2	2	4	1	2	2	4	rs150872087	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:156590064G>T	ENST00000302938.4	-	2	1307	c.1212C>A	c.(1210-1212)agC>agA	p.S404R		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	404						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTAGCCTTCGCTTTGCAAGG	0.507																																																	0													77	80	79					5																	156590064		2203	4300	6503	SO:0001583	missense	0				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1212C>A	5.37:g.156590064G>T	ENSP00000305596:p.Ser404Arg		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.S404R	ENST00000302938.4	37	c.1212	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033472	0.19590	.	.	ENSG00000170613	ENST00000302938	T	0.18657	2.2	4.16	-4.82	0.03171	.	0.000000	0.47455	D	0.000238	T	0.27559	0.0677	M	0.78049	2.395	0.30752	N	0.745042	D	0.57899	0.981	P	0.48815	0.591	T	0.32402	-0.9908	10	0.56958	D	0.05	-7.3399	11.9891	0.53166	0.3414:0.0:0.6586:0.0	.	404	Q8TC56	FA71B_HUMAN	R	404	ENSP00000305596:S404R	ENSP00000305596:S404R	S	-	3	2	FAM71B	156522642	0.281000	0.24258	0.693000	0.30195	0.014000	0.08584	-1.228000	0.02948	-1.048000	0.03238	-0.367000	0.07326	AGC	FAM71B	-	NULL	ENSG00000170613		0.507	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2		0	47	0	G	NM_130899		156590064	-1			no_errors	ENST00000302938	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.916	T	T	156590064	G	T	156590064	3	4	79	1	0	0	0	0	1	0	0	0	5630	1078	38	2	609	2	FAM71B	5	156590064	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	208621	156590064	24325196	98	20754											
ITK	3702	genome.wustl.edu	37	chr5	156608051	156608051	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccaacaaaagagaagaacTtctccctcgaactttaaagt	16	9	5	11	1	1	2	0	0	1	2	4	4	2	2	2	0	3	0	2	0	8	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:156608051T>G	ENST00000422843.3	+	1	215	c.63T>G	c.(61-63)acT>acG	p.T21T		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	21	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.T21T(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGAGAAGAACTTCTCCCTCGA	0.438			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	lung(1)											115	106	109					5																	156608051		2203	4300	6503	SO:0001819	synonymous_variant	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.63T>G	5.37:g.156608051T>G			B2R752|Q32ML7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.T21	ENST00000422843.3	37	c.63	CCDS4336.1	5																																																																																			ITK	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113263		0.438	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	58	0	T			156608051	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.628	G	G	156608051	T	G	156608051	2	3	79	1	0	0	0	0	0	0	0	1	7936	1596	56	4		4	ITK	5	156608051	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	17987	156608051	24307209	99	20755											
ITK	3702	genome.wustl.edu	37	chr5	156671346	156671346	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatctgcctggtgtttgAgttcatggagcacggctgcc	5	11	12	13	1	2	1	1	1	1	0	2	2	2	2	4	3	3	4	4	3	0	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:156671346A>C	ENST00000422843.3	+	13	1459	c.1307A>C	c.(1306-1308)gAg>gCg	p.E436A	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	436	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CTGGTGTTTGAGTTCATGGAG	0.567			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													93	91	92					5																	156671346		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1307A>C	5.37:g.156671346A>C	ENSP00000398655:p.Glu436Ala		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.E436A	ENST00000422843.3	37	c.1307	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	A	32	5.148301	0.94603	.	.	ENSG00000113263	ENST00000422843	T	0.76709	-1.04	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93996	0.7271	10	0.87932	D	0	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	436	Q08881	ITK_HUMAN	A	436	ENSP00000398655:E436A	ENSP00000398655:E436A	E	+	2	0	ITK	156603924	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.158000	0.94723	2.333000	0.79357	0.482000	0.46254	GAG	ITK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000113263		0.567	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	44	0	A			156671346	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	C	C	156671346	A	C	156671346	3	2	79	1	0	0	0	0	1	0	0	0	7936	304	11	4	1357	4	ITK	5	156671346	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	63295	156671346	24243914	100	20756											
ATP10B	23120	genome.wustl.edu	37	chr5	160033953	160033953	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcgatgaccaatccagcTtctggaaccacagcttctga	11	9	7	14	1	2	2	0	2	2	0	4	4	3	3	4	1	3	2	4	1	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:160033953T>G	ENST00000327245.5	-	19	3825	c.2979A>C	c.(2977-2979)gaA>gaC	p.E993D		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	993					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAATCCAGCTTCTGGAACCA	0.478																																																	0													131	125	127					5																	160033953		1972	4146	6118	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2979A>C	5.37:g.160033953T>G	ENSP00000313600:p.Glu993Asp		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E993D	ENST00000327245.5	37	c.2979	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	4.142	0.024649	0.08054	.	.	ENSG00000118322	ENST00000327245	T	0.62941	-0.01	5.05	-10.1	0.00402	HAD-like domain (1);	0.869670	0.10489	N	0.668607	T	0.24774	0.0601	N	0.05383	-0.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.15321	-1.0441	9	.	.	.	.	0.6329	0.00797	0.2988:0.2579:0.2444:0.1989	.	993	O94823	AT10B_HUMAN	D	993	ENSP00000313600:E993D	.	E	-	3	2	ATP10B	159966531	0.000000	0.05858	0.026000	0.17262	0.610000	0.37248	-1.711000	0.01886	-1.229000	0.02564	0.460000	0.39030	GAA	ATP10B	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0	85	0	T	NM_025153		160033953	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	22.22	42	12	SNP	0.001	G	G	160033953	T	G	160033953	3	3	79	1	0	0	0	0	1	0	0	0	1118	1606	56	4	1438	4	ATP10B	5	160033953	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	3362607	160033953	20881307	101	20757											
GABRA1	2554	genome.wustl.edu	37	chr5	161277886	161277886	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgagcacactgactggaAgaaggtggggacactttttt	10	12	12	7	0	1	3	0	2	1	1	1	5	1	5	0	4	1	1	0	4	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:161277886A>G	ENST00000428797.2	+	3	425	c.70A>G	c.(70-72)Aga>Gga	p.R24G	GABRA1_ENST00000444819.1_Missense_Mutation_p.R24G|GABRA1_ENST00000420560.1_Missense_Mutation_p.R24G|GABRA1_ENST00000023897.6_Missense_Mutation_p.R24G|GABRA1_ENST00000393943.4_Missense_Mutation_p.R24G|GABRA1_ENST00000437025.2_Missense_Mutation_p.R24G	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	24					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACTGACTGGAAGAAGGTGGGG	0.413																																																	0													84	80	81					5																	161277886		2203	4300	6503	SO:0001583	missense	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4075	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 1"	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.70A>G	5.37:g.161277886A>G	ENSP00000393097:p.Arg24Gly		D3DQK6|Q8N629	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.R24G	ENST00000428797.2	37	c.70	CCDS4357.1	5	.	.	.	.	.	.	.	.	.	.	A	10.29	1.309209	0.23821	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000521339;ENST00000420560;ENST00000522651;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-0.45;-1.19;-0.46;-1.19;-0.45	5.41	4.25	0.50352	.	0.215494	0.32357	N	0.006216	T	0.60314	0.2259	N	0.19112	0.55	0.36358	D	0.860521	B	0.17038	0.02	B	0.12156	0.007	T	0.56098	-0.8035	10	0.17832	T	0.49	.	9.1583	0.37007	0.9139:0.0:0.0861:0.0	.	24	P14867	GBRA1_HUMAN	G	24;24;24;24;30;24;24;24;24	ENSP00000023897:R24G;ENSP00000393097:R24G;ENSP00000377517:R24G;ENSP00000415441:R24G;ENSP00000430895:R30G;ENSP00000408041:R24G;ENSP00000430507:R24G;ENSP00000414232:R24G;ENSP00000430435:R24G	ENSP00000023897:R24G	R	+	1	2	GABRA1	161210464	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.331000	0.59273	0.887000	0.36136	0.528000	0.53228	AGA	GABRA1	-	prints_GABBAa1_rcpt,tigrfam_Neur_channel	ENSG00000022355		0.413	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2	-	0	55	0	A	NM_000806.5		161277886	1	tier1	-	no_errors	ENST00000023897	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	G	G	161277886	A	G	161277886	3	3	79	1	0	0	0	0	1	0	0	0	6184	64	3	4	72	4	GABRA1	5	161277886	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1243933	161277886	19637374	102	20758											
ODZ2	57451	genome.wustl.edu	37	chr5	167645899	167645899	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaccaatggaggcctcaAagtcgtgtccacacagaacc	12	5	11	13	1	1	1	1	0	0	1	3	2	2	2	4	3	1	1	4	3	3	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:167645899A>T	ENST00000518659.1	+	23	5042	c.5003A>T	c.(5002-5004)aAa>aTa	p.K1668I	TENM2_ENST00000519204.1_Missense_Mutation_p.K1547I|TENM2_ENST00000545108.1_Missense_Mutation_p.K1667I|TENM2_ENST00000403607.2_Missense_Mutation_p.K1492I|TENM2_ENST00000520394.1_Missense_Mutation_p.K1429I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1668					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GGAGGCCTCAAAGTCGTGTCC	0.572																																																	0													143	149	147					5																	167645899		2097	4211	6308	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5003A>T	5.37:g.167645899A>T	ENSP00000429430:p.Lys1668Ile		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.K1668I	ENST00000518659.1	37	c.5003		5	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789607	0.70337	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.56444	1.7;0.46;1.7;1.7;1.7	5.85	5.85	0.93711	.	0.045428	0.85682	D	0.000000	T	0.71409	0.3336	M	0.71581	2.175	0.49483	D	0.999797	D;D;D	0.63880	0.993;0.988;0.958	D;P;P	0.68192	0.956;0.905;0.466	T	0.74244	-0.3728	10	0.66056	D	0.02	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	1667;1668;1429	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	1668;1667;1547;1429;1492	ENSP00000429430:K1668I;ENSP00000438635:K1667I;ENSP00000428964:K1547I;ENSP00000427874:K1429I;ENSP00000384905:K1492I	ENSP00000384905:K1492I	K	+	2	0	ODZ2	167578477	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	6.168000	0.71908	2.233000	0.73108	0.533000	0.62120	AAA	TENM2	-	superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf	ENSG00000145934		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0	38	0	A	NM_001122679		167645899	1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.995	T	T	167645899	A	T	167645899	3	4	79	1	0	0	0	0	1	0	0	0	10874	14	1	5	5066	5	ODZ2	5	167645899	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	6368013	167645899	13269361	103	20759											
DOCK2	1794	genome.wustl.edu	37	chr5	169423113	169423113	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctgagagctatcaacaAgtttgcagaaaccatgaacc	14	9	7	11	0	1	3	1	2	0	2	2	4	2	3	3	0	5	3	3	0	5	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:169423113A>C	ENST00000256935.8	+	30	3097	c.3017A>C	c.(3016-3018)aAg>aCg	p.K1006T	DOCK2_ENST00000520908.1_Missense_Mutation_p.K498T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.K67T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1006	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTATCAACAAGTTTGCAGAA	0.478																																																	0													110	101	104					5																	169423113		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3017A>C	5.37:g.169423113A>C	ENSP00000256935:p.Lys1006Thr		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K1006T	ENST00000256935.8	37	c.3017	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	15.10	2.734284	0.48939	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.20738	2.05;2.05;2.05	5.76	5.76	0.90799	.	0.056160	0.64402	D	0.000001	T	0.15609	0.0376	N	0.22421	0.69	0.43242	D	0.995159	B;B	0.17852	0.024;0.004	B;B	0.14023	0.01;0.003	T	0.06807	-1.0806	10	0.28530	T	0.3	.	14.0363	0.64646	1.0:0.0:0.0:0.0	.	498;1006	E7ERW7;Q92608	.;DOCK2_HUMAN	T	1006;498;67	ENSP00000256935:K1006T;ENSP00000429283:K498T;ENSP00000438827:K67T	ENSP00000256935:K1006T	K	+	2	0	DOCK2	169355691	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.694000	0.61760	2.191000	0.70037	0.533000	0.62120	AAG	DOCK2	-	superfamily_ARM-type_fold,superfamily_Ferritin-like_SF	ENSG00000134516		0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	63	0	A	NM_004946		169423113	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	C	C	169423113	A	C	169423113	3	2	79	1	0	0	0	0	1	0	0	0	4701	72	3	4	3135	4	DOCK2	5	169423113	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1777214	169423113	11492147	104	20760											
FGFR4	2264	genome.wustl.edu	37	chr5	176523718	176523718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggacatcggatggaccGacccccacactgccccccag	9	3	12	17	2	0	0	0	0	0	0	1	5	0	4	6	4	1	0	6	4	0	0	rs140492176		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:176523718G>A	ENST00000292408.4	+	16	2374	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	FGFR4_ENST00000292410.3_Missense_Mutation_p.R670Q|FGFR4_ENST00000502906.1_Missense_Mutation_p.R710Q|FGFR4_ENST00000393648.2_Missense_Mutation_p.R642Q|FGFR4_ENST00000393637.1_Missense_Mutation_p.R670Q	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	710	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	CGGATGGACCGACCCCCACAC	0.657										TSP Lung(9;0.080)																																							0									GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	48	49	49		2129,2009,2129	4.4	1	5	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense,missense	FGFR4	NM_002011.3,NM_022963.2,NM_213647.1	43,43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	710/803,670/763,710/803	176523718	1,13005	2203	4300	6503	SO:0001583	missense	0			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2129G>A	5.37:g.176523718G>A	ENSP00000292408:p.Arg710Gln		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R710Q	ENST00000292408.4	37	c.2129	CCDS4410.1	5	.	.	.	.	.	.	.	.	.	.	g	18.70	3.679122	0.68042	2.27E-4	0.0	ENSG00000160867	ENST00000292408;ENST00000393648;ENST00000502906;ENST00000292410;ENST00000393637;ENST00000377207	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	4.43	4.43	0.53597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.060646	0.64402	D	0.000003	T	0.65471	0.2694	N	0.02765	-0.5	0.32754	N	0.506039	D;D;D	0.58268	0.982;0.977;0.966	P;B;P	0.46585	0.521;0.386;0.489	T	0.73122	-0.4082	10	0.45353	T	0.12	.	8.0674	0.30669	0.1846:0.0:0.8154:0.0	.	642;670;710	B4DVP5;P22455-2;P22455	.;.;FGFR4_HUMAN	Q	710;642;710;670;670;938	ENSP00000292408:R710Q;ENSP00000377259:R642Q;ENSP00000424960:R710Q;ENSP00000292410:R670Q;ENSP00000377254:R670Q	ENSP00000292408:R710Q	R	+	2	0	FGFR4	176456324	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.187000	0.65087	2.010000	0.58986	0.556000	0.70494	CGA	FGFR4	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160867		0.657	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	HGNC	protein_coding	OTTHUMT00000253410.1	-	0	93	0	G			176523718	1	tier1	rs140492176	no_errors	ENST00000292408	ensembl	human	known	74_37	missense	67.14	23	47	SNP	1.000	A	A	176523718	G	A	176523718	3	1	79	1	0	0	0	0	1	0	0	0	5890	1058	37	1	2257	1	FGFR4	5	176523718	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	7100605	176523718	4391542	105	20761											
NSD1	64324	genome.wustl.edu	37	chr5	176562826	176562826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagaaaaataagcaaaGaaatgaagtggacggcagca	22	3	10	6	1	0	3	0	1	0	2	0	4	0	4	0	2	3	3	0	2	7	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:176562826G>T	ENST00000439151.2	+	2	767	c.722G>T	c.(721-723)aGa>aTa	p.R241I	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Missense_Mutation_p.R241I	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	241					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R241I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATAAGCAAAGAAATGAAGTG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Missense(2)	large_intestine(2)											84	82	82					5																	176562826		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	14234	protein-coding gene	gene with protein product		606681	"Sotos syndrome"	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.722G>T	5.37:g.176562826G>T	ENSP00000395929:p.Arg241Ile		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R241I	ENST00000439151.2	37	c.722	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187807	0.57909	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.94687	-3.25;-3.49	4.74	4.74	0.60224	.	0.000000	0.48767	D	0.000171	D	0.94098	0.8108	N	0.19112	0.55	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.997	D;D;D	0.80764	0.994;0.986;0.991	D	0.94581	0.7779	10	0.72032	D	0.01	.	13.1063	0.59249	0.0:0.0:1.0:0.0	.	241;241;241	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	I	241	ENSP00000395929:R241I;ENSP00000354310:R241I	ENSP00000354310:R241I	R	+	2	0	NSD1	176495432	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.069000	0.50026	2.459000	0.83118	0.655000	0.94253	AGA	NSD1	-	NULL	ENSG00000165671		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0	37	0	G	NM_172349		176562826	1			no_errors	ENST00000439151	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	176562826	G	T	176562826	3	4	79	1	0	0	0	0	1	0	0	0	10708	942	33	3	724	3	NSD1	5	176562826	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	39108	176562826	4352434	106	20762											
FAM193B	54540	genome.wustl.edu	37	chr5	176951252	176951252	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcggcccttgccctggggcaAgctctgtggccttgctgggc	2	9	16	14	1	1	0	0	0	1	0	1	0	1	0	3	5	3	3	3	5	1	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:176951252A>T	ENST00000514747.1	-	6	2278	c.2230T>A	c.(2230-2232)Ttg>Atg	p.L744M	FAM193B_ENST00000443375.2_Missense_Mutation_p.L711M|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.L370M	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	824						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CCCTGGGGCAAGCTCTGTGGC	0.682																																																	0													13	16	15					5																	176951252		2065	4189	6254	SO:0001583	missense	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.2230T>A	5.37:g.176951252A>T	ENSP00000422131:p.Leu744Met		E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.L711M	ENST00000514747.1	37	c.2131	CCDS54954.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.52|15.52	2.857279|2.857279	0.51376|0.51376	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000524677|ENST00000514747;ENST00000443375;ENST00000329540	.|T;T;T	.|0.42900	.|0.96;0.96;0.96	5.59|5.59	4.43|4.43	0.53597|0.53597	.|.	0.431719|0.431719	0.25813|0.25813	N|N	0.028125|0.028125	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.50617	.|0.755;0.937;0.731	.|P;P;B	.|0.52267	.|0.465;0.694;0.444	T|T	0.24119|0.24119	-1.0169|-1.0169	6|10	.|0.35671	.|T	.|0.21	-2.3923|-2.3923	11.2059|11.2059	0.48769|0.48769	0.9287:0.0:0.0713:0.0|0.9287:0.0:0.0713:0.0	.|.	.|744;370;711	.|E9PET5;E7ER81;E9PEZ8	.|.;.;.	H|M	429|744;711;370	.|ENSP00000422131:L744M;ENSP00000410098:L711M;ENSP00000332014:L370M	.|ENSP00000332014:L370M	L|L	-|-	2|1	0|2	FAM193B|FAM193B	176883858|176883858	0.927000|0.927000	0.31430|0.31430	0.994000|0.994000	0.49952|0.49952	0.937000|0.937000	0.57800|0.57800	2.284000|2.284000	0.43478|0.43478	0.960000|0.960000	0.38005|0.38005	0.459000|0.459000	0.35465|0.35465	CTT|TTG	FAM193B	-	NULL	ENSG00000146067		0.682	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	-	0	68	0	A	NM_019057		176951252	-1	tier1	-	no_errors	ENST00000443375	ensembl	human	known	74_37	missense	23.40	72	22	SNP	0.037	T	T	176951252	A	T	176951252	3	4	79	1	0	0	0	0	1	0	0	0	5544	69	3	5	250	5	FAM193B	5	176951252	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	388426	176951252	3964008	107	20763											
ZNF454	285676	genome.wustl.edu	37	chr5	178392181	178392181	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctcagtgagctcctcacTtacgtaccatcagaaaattc	11	12	5	13	1	3	2	3	1	1	1	6	2	4	2	2	0	3	2	2	0	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr5:178392181T>A	ENST00000320129.3	+	5	1079	c.776T>A	c.(775-777)cTt>cAt	p.L259H	ZNF454_ENST00000519564.1_Missense_Mutation_p.L259H	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGCTCCTCACTTACGTACCAT	0.428																																																	0													84	89	87					5																	178392181		2203	4300	6503	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.776T>A	5.37:g.178392181T>A	ENSP00000326249:p.Leu259His		Q2M1P2|Q2M323	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L259H	ENST00000320129.3	37	c.776	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472835	0.43942	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.54071	0.59;0.59	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32028	N	0.006685	T	0.76241	0.3960	M	0.92026	3.265	0.25691	N	0.985687	D	0.89917	1.0	D	0.83275	0.996	T	0.70733	-0.4791	10	0.66056	D	0.02	-12.9454	12.0154	0.53311	0.0:0.0:0.0:1.0	.	259	Q8N9F8	ZN454_HUMAN	H	259	ENSP00000326249:L259H;ENSP00000430354:L259H	ENSP00000326249:L259H	L	+	2	0	ZNF454	178324787	0.990000	0.36364	0.154000	0.22540	0.366000	0.29705	5.527000	0.67123	1.999000	0.58509	0.454000	0.30748	CTT	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.428	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	-	0	71	0	T	XM_209718		178392181	1	tier1	-	no_errors	ENST00000320129	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.414	A	A	178392181	T	A	178392181	3	1	79	1	0	0	0	0	1	0	0	0	17971	1609	56	5	790	5	ZNF454	5	178392181	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	1440929	178392181	2523079	108	20764											
EXOC2	55770	genome.wustl.edu	37	chr6	497386	497386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtaaagctccatttttgCtgaaggatgaaacacactgc	12	11	8	10	0	0	2	0	2	0	0	1	3	1	3	2	1	4	3	2	1	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:497386C>T	ENST00000230449.4	-	25	2675	c.2540G>A	c.(2539-2541)aGc>aAc	p.S847N	EXOC2_ENST00000448181.3_Missense_Mutation_p.S442N	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	847					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCCATTTTTGCTGAAGGATGA	0.358																																																	0													106	106	106					6																	497386		2203	4300	6503	SO:0001583	missense	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2540G>A	6.37:g.497386C>T	ENSP00000230449:p.Ser847Asn		B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.S847N	ENST00000230449.4	37	c.2540	CCDS34327.1	6	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937580	0.52972	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	T;T	0.45668	0.89;0.89	6.06	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.46157	1.445	0.58432	D	0.999999	D	0.64830	0.994	P	0.56278	0.795	T	0.08269	-1.0730	10	0.30854	T	0.27	-8.5379	11.3724	0.49708	0.127:0.808:0.0:0.065	.	847	Q96KP1	EXOC2_HUMAN	N	847;442	ENSP00000230449:S847N;ENSP00000398113:S442N	ENSP00000230449:S847N	S	-	2	0	EXOC2	442386	1.000000	0.71417	0.991000	0.47740	0.410000	0.31052	7.487000	0.81328	0.867000	0.35654	0.650000	0.86243	AGC	EXOC2	-	NULL	ENSG00000112685		0.358	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1		0	56	0	C	NM_018303		497386	-1			no_errors	ENST00000230449	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	497386	C	T	497386	3	4	79	1	0	0	0	0	1	0	0	0	5318	797	28	3	250	3	EXOC2	6	497386	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09		497386	170617681	109	20765											
EXOC2	55770	genome.wustl.edu	37	chr6	572547	572547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcttccattaacgtaGgagatccagagtttccagaa	14	9	10	8	1	0	4	0	0	0	4	3	5	3	4	3	2	1	3	3	2	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:572547G>T	ENST00000230449.4	-	13	1551	c.1416C>A	c.(1414-1416)tcC>tcA	p.S472S	EXOC2_ENST00000448181.3_Silent_p.S67S	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	472					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CATTAACGTAGGAGATCCAGA	0.458																																																	0													101	93	95					6																	572547		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1416C>A	6.37:g.572547G>T			B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom	p.S472	ENST00000230449.4	37	c.1416	CCDS34327.1	6																																																																																			EXOC2	-	NULL	ENSG00000112685		0.458	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	HGNC	protein_coding	OTTHUMT00000039627.1	-	0	72	0	G	NM_018303		572547	-1	tier1	-	no_errors	ENST00000230449	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.095	T	T	572547	G	T	572547	2	4	79	1	0	0	0	0	0	0	0	1	5318	987	35	3		3	EXOC2	6	572547	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	75161	572547	170542520	110	20766											
SCAND3	114821	genome.wustl.edu	37	chr6	28543320	28543320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaataaatctgtactcccCatcaggattcaactgcatgt	14	11	5	11	0	3	0	2	0	1	0	4	1	4	1	2	1	3	2	2	1	6	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:28543320C>T	ENST00000452236.2	-	3	1779	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.G388W(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTGTACTCCCCATCAGGATTC	0.348																																																	1	Substitution - Missense(1)	lung(1)											75	79	78					6																	28543320		2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.1162G>A	6.37:g.28543320C>T	ENSP00000395259:p.Gly388Arg			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.G388R	ENST00000452236.2	37	c.1162	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	17.48	3.401398	0.62288	.	.	ENSG00000232040	ENST00000452236	T	0.01647	4.71	3.45	3.45	0.39498	Integrase, catalytic core (2);Ribonuclease H-like (1);	0.263231	0.24209	N	0.040547	T	0.03871	0.0109	L	0.60455	1.87	0.32117	N	0.588585	D	0.89917	1.0	D	0.87578	0.998	T	0.06023	-1.0850	10	0.87932	D	0	.	12.821	0.57694	0.0:1.0:0.0:0.0	.	388	Q6R2W3	SCND3_HUMAN	R	388	ENSP00000395259:G388R	ENSP00000395259:G388R	G	-	1	0	SCAND3	28651299	0.996000	0.38824	1.000000	0.80357	0.974000	0.67602	1.814000	0.38972	1.935000	0.56089	0.655000	0.94253	GGG	SCAND3	-	pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	ENSG00000232040		0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0	48	0	C			28543320	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	85.71	7	42	SNP	1.000	T	T	28543320	C	T	28543320	3	4	79	1	0	0	0	0	1	0	0	0	13921	594	21	3	2823	3	SCAND3	6	28543320	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	27970773	28543320	142571747	111	20767											
OR5V1	81696	genome.wustl.edu	37	chr6	29323840	29323840	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcacagtcgtcaagataaTtaatatatttcctcccaaag	15	12	5	9	1	2	1	2	0	0	1	5	1	4	1	2	0	0	0	2	0	6	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:29323840T>G	ENST00000377154.1	-	4	432	c.133A>C	c.(133-135)Att>Ctt	p.I45L	OR5V1_ENST00000543825.1_Missense_Mutation_p.I45L			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	45			I -> M (in dbSNP:rs9257770). {ECO:0000269|PubMed:14574404}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTCAAGATAATTAATATATTT	0.368																																					Ovarian(32;43 883 21137 32120 42650)												0													123	127	126					6																	29323840		2203	4300	6503	SO:0001583	missense	0				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"GPCR / Class A : Olfactory receptors"	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.133A>C	6.37:g.29323840T>G	ENSP00000366359:p.Ile45Leu		A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I45L	ENST00000377154.1	37	c.133	CCDS4657.1	6	.	.	.	.	.	.	.	.	.	.	T	9.441	1.088078	0.20390	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.00453	7.33;7.33	4.36	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.249539	0.20866	N	0.084252	T	0.00109	0.0003	L	0.56124	1.755	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.38329	-0.9666	10	0.17369	T	0.5	-27.1422	8.6383	0.33962	0.0:0.1634:0.0:0.8366	.	45	Q9UGF6	OR5V1_HUMAN	L	45	ENSP00000366359:I45L;ENSP00000443309:I45L	ENSP00000366356:I45L	I	-	1	0	OR5V1	29431819	0.331000	0.24713	0.006000	0.13384	0.629000	0.37895	1.338000	0.33873	0.299000	0.22661	0.438000	0.28831	ATT	OR5V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000243729		0.368	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5V1	HGNC	protein_coding	OTTHUMT00000076398.3	-	0	47	0	T			29323840	-1	tier1	-	no_errors	ENST00000377154	ensembl	human	known	74_37	missense	80.77	5	21	SNP	0.132	G	G	29323840	T	G	29323840	3	3	79	1	0	0	0	0	1	0	0	0	11223	1493	52	4	835	4	OR5V1	6	29323840	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	780520	29323840	141791227	112	20768											
HLA-G	3135	genome.wustl.edu	37	chr6	29797279	29797279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctgggcttctaccctgCggagatcatactgacctggc	6	9	12	14	1	2	2	1	1	1	1	2	3	2	2	3	4	3	1	3	4	2	3	rs147620137		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:29797279C>T	ENST00000360323.6	+	4	728	c.704C>T	c.(703-705)gCg>gTg	p.A235V	HLA-G_ENST00000376818.3_Missense_Mutation_p.A143V|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.A240V|HLA-G_ENST00000428701.1_Missense_Mutation_p.A235V			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	235	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TTCTACCCTGCGGAGATCATA	0.617																																																	0								C	VAL/ALA	4,4402		0,4,2199	81	83	82		704	-3.4	0.2	6	dbSNP_134	82	0,8594		0,0,4297	no	missense	HLA-G	NM_002127.5	64	0,4,6496	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	235/339	29797279	4,12996	2203	4297	6500	SO:0001583	missense	0				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.704C>T	6.37:g.29797279C>T	ENSP00000353472:p.Ala235Val			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.A240V	ENST00000360323.6	37	c.719	CCDS4668.1	6	.	.	.	.	.	.	.	.	.	.	.	3.530	-0.095879	0.07010	9.08E-4	0.0	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.15372	2.43;2.43;2.43;4.06	1.72	-3.44	0.04796	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.433805	0.16471	U	0.212974	T	0.04815	0.0130	M	0.81239	2.535	0.09310	N	1	P;B;B	0.45634	0.863;0.236;0.378	B;B;B	0.35114	0.196;0.001;0.031	T	0.09058	-1.0692	10	0.87932	D	0	.	1.4516	0.02376	0.4733:0.232:0.1609:0.1338	.	240;143;235	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	V	240;235;235;143	ENSP00000366024:A240V;ENSP00000412927:A235V;ENSP00000353472:A235V;ENSP00000366014:A143V	ENSP00000353472:A235V	A	+	2	0	HLA-G	29905258	0.000000	0.05858	0.249000	0.24280	0.243000	0.25628	-1.433000	0.02428	-2.174000	0.00772	-0.901000	0.02856	GCG	HLA-G	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000204632		0.617	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-G	HGNC	protein_coding	OTTHUMT00000076286.2	-	0	107	0	C	NM_002127		29797279	1	tier1	rs147620137	no_errors	ENST00000376828	ensembl	human	known	74_37	missense	78.15	26	93	SNP	0.292	T	T	29797279	C	T	29797279	3	4	79	1	0	0	0	0	1	0	0	0	7239	768	27	1	718	1	HLA-G	6	29797279	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	473439	29797279	141317788	113	20769											
PKHD1	5314	genome.wustl.edu	37	chr6	51924834	51924834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccacaaagaacccactgagCcgtgctctgtaaagtagaac	14	6	9	12	1	1	3	0	1	1	2	1	3	1	3	3	0	4	3	3	0	6	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:51924834C>T	ENST00000371117.3	-	15	1400	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	PKHD1_ENST00000340994.4_Silent_p.R375R|AL590391.1_ENST00000408630.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	375					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R375R(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCCACTGAGCCGTGCTCTGT	0.438																																																	2	Substitution - coding silent(2)	endometrium(2)											75	69	71					6																	51924834		2203	4300	6503	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1125G>A	6.37:g.51924834C>T			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.R375	ENST00000371117.3	37	c.1125	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.438	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1		0	51	0	C	NM_138694		51924834	-1			no_errors	ENST00000371117	ensembl	human	known	74_37	silent	7.69	24	2	SNP	1.000	T	T	51924834	C	T	51924834	2	4	79	1	0	0	0	0	0	0	0	1	12010	726	26	3		3	PKHD1	6	51924834	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	22127555	51924834	119190233	114	20770											
COL21A1	81578	genome.wustl.edu	37	chr6	55926451	55926451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atatgaagaaacatacctctCcttttgcaccatgatggcct	12	12	6	11	0	1	3	0	2	1	1	2	3	1	3	4	1	3	1	4	1	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:55926451C>T	ENST00000244728.5	-	25	2598	c.2201G>A	c.(2200-2202)gGa>gAa	p.G734E	COL21A1_ENST00000370819.1_Missense_Mutation_p.G731E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G734E|COL21A1_ENST00000370808.2_Missense_Mutation_p.G134E|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	734	Collagen-like 5.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			ACATACCTCTCCTTTTGCACC	0.338																																																	0													59	58	58					6																	55926451		1814	4075	5889	SO:0001583	missense	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"Collagens"	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2201G>A	6.37:g.55926451C>T	ENSP00000244728:p.Gly734Glu		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G734E	ENST00000244728.5	37	c.2201	CCDS55025.1	6	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630808	0.46944	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.99488	-6.0;-6.0;-6.0;-6.0	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000037	D	0.99739	0.9897	H	0.96970	3.915	0.51767	D	0.99993	D;D;D	0.89917	0.979;0.983;1.0	P;P;D	0.97110	0.74;0.831;1.0	D	0.97324	0.9946	10	0.87932	D	0	.	16.0328	0.80593	0.0:1.0:0.0:0.0	.	134;734;734	Q96P44-2;B7ZLK3;Q96P44	.;.;COLA1_HUMAN	E	734;731;734;731;134	ENSP00000244728:G734E;ENSP00000359855:G731E;ENSP00000444384:G734E;ENSP00000359844:G134E	ENSP00000244728:G734E	G	-	2	0	COL21A1	56034410	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	3.807000	0.55591	2.568000	0.86640	0.579000	0.79373	GGA	COL21A1	-	pfam_Collagen	ENSG00000124749		0.338	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2		0	97	0	C			55926451	-1			no_errors	ENST00000244728	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	55926451	C	T	55926451	3	4	79	1	0	0	0	0	1	0	0	0	3687	855	30	3	696	3	COL21A1	6	55926451	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	4001617	55926451	115188616	115	20771											
WASF1	8936	genome.wustl.edu	37	chr6	110428322	110428322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttatcctctgtatcttgCaacattttttctttccatag	7	20	3	11	0	4	0	0	0	4	0	6	0	6	0	2	0	2	2	2	0	4	8			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:110428322C>T	ENST00000392589.1	-	7	1334	c.498G>A	c.(496-498)ttG>ttA	p.L166L	WASF1_ENST00000392588.1_Silent_p.L166L|WASF1_ENST00000359451.2_Silent_p.L166L|WASF1_ENST00000392586.1_Silent_p.L166L|WASF1_ENST00000392587.2_Silent_p.L166L	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	166					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		CTGTATCTTGCAACATTTTTT	0.289																																																	0													112	110	111					6																	110428322		2203	4300	6503	SO:0001819	synonymous_variant	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.498G>A	6.37:g.110428322C>T			E1P5F2|Q5SZK7	Silent	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.L166	ENST00000392589.1	37	c.498	CCDS5080.1	6																																																																																			WASF1	-	NULL	ENSG00000112290		0.289	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	-	0	47	0	C	NM_003931		110428322	-1	tier1	-	no_errors	ENST00000359451	ensembl	human	known	74_37	silent	50.00	23	23	SNP	1.000	T	T	110428322	C	T	110428322	2	4	79	1	0	0	0	0	0	0	0	1	17301	709	25	3		3	WASF1	6	110428322	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	54501871	110428322	60686745	116	20772											
SLC35F1	222553	genome.wustl.edu	37	chr6	118556681	118556681	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtaacacaggagaagaaaAcctcctggcaattttacgac	15	9	8	9	1	0	2	0	0	0	2	1	4	1	2	2	2	3	2	2	2	6	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:118556681A>C	ENST00000360388.4	+	3	560	c.359A>C	c.(358-360)aAc>aCc	p.N120T		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	120					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGAGAAGAAAACCTCCTGGCA	0.358																																																	0													93	90	91					6																	118556681		2203	4300	6503	SO:0001583	missense	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"Solute carriers"	21483	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 169"	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.359A>C	6.37:g.118556681A>C	ENSP00000353557:p.Asn120Thr		E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	pfam_SLC35_F1/F2/F6,pfam_DMT	p.N120T	ENST00000360388.4	37	c.359	CCDS34524.1	6	.	.	.	.	.	.	.	.	.	.	A	10.83	1.462484	0.26248	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.78	5.78	0.91487	.	0.217922	0.45126	D	0.000398	T	0.46889	0.1416	L	0.36672	1.1	0.54753	D	0.999988	B	0.30686	0.29	B	0.42593	0.392	T	0.47824	-0.9087	9	0.14252	T	0.57	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	120	Q5T1Q4	S35F1_HUMAN	T	120	.	ENSP00000353557:N120T	N	+	2	0	SLC35F1	118663374	1.000000	0.71417	1.000000	0.80357	0.153000	0.21895	6.920000	0.75799	2.333000	0.79357	0.533000	0.62120	AAC	SLC35F1	-	pfam_SLC35_F1/F2/F6,pfam_DMT	ENSG00000196376		0.358	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	-	0	81	0	A	XM_167044		118556681	1	tier1	-	no_errors	ENST00000360388	ensembl	human	known	74_37	missense	33.33	50	25	SNP	1.000	C	C	118556681	A	C	118556681	3	2	79	1	0	0	0	0	1	0	0	0	14633	43	2	4	369	4	SLC35F1	6	118556681	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	8128359	118556681	52558386	117	20773											
C6orf170	221322	genome.wustl.edu	37	chr6	121600279	121600279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacatacctttcttcagaaGagttcatatttgctccataa	12	14	5	10	0	3	2	2	0	1	2	4	2	4	2	2	0	2	3	2	0	4	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:121600279G>A	ENST00000398212.2	-	15	1770	c.1721C>T	c.(1720-1722)tCt>tTt	p.S574F	TBC1D32_ENST00000275159.6_Missense_Mutation_p.S574F	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	574					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTCTTCAGAAGAGTTCATATT	0.323																																																	0													49	47	47					6																	121600279		1801	4068	5869	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.1721C>T	6.37:g.121600279G>A	ENSP00000381270:p.Ser574Phe		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.S574F	ENST00000398212.2	37	c.1721	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062603	0.55432	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.25579	1.79;1.79	5.52	5.52	0.82312	.	0.287889	0.33419	N	0.004921	T	0.35278	0.0926	M	0.71581	2.175	0.44247	D	0.997099	D;D	0.63880	0.993;0.985	P;P	0.59487	0.858;0.751	T	0.16928	-1.0386	10	0.72032	D	0.01	-12.9195	11.6594	0.51337	0.0827:0.0:0.9173:0.0	.	574;574	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	F	574	ENSP00000275159:S574F;ENSP00000381270:S574F	ENSP00000275159:S574F	S	-	2	0	C6orf170	121641978	1.000000	0.71417	0.994000	0.49952	0.794000	0.44872	2.367000	0.44213	2.603000	0.88011	0.650000	0.86243	TCT	TBC1D32	-	NULL	ENSG00000146350		0.323	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	57	0	G	NM_152730		121600279	-1	tier1	-	no_errors	ENST00000275159	ensembl	human	putative	74_37	missense	31.91	32	15	SNP	0.998	A	A	121600279	G	A	121600279	3	1	79	1	0	0	0	0	1	0	0	0	2351	942	33	3	2124	3	C6orf170	6	121600279	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	3043598	121600279	49514788	118	20774											
RNF217	154214	genome.wustl.edu	37	chr6	125397905	125397905	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataccgccagctccgatttTttggagaccacacatcaaac	12	9	7	13	2	1	1	1	0	0	1	2	4	2	1	4	1	3	1	4	1	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:125397905T>G	ENST00000521654.2	+	4	1384	c.1384T>G	c.(1384-1386)Ttt>Gtt	p.F462V	RNF217_ENST00000359704.2_Missense_Mutation_p.F170V|RNF217_ENST00000560949.1_Missense_Mutation_p.F227V|RNF217_ENST00000275184.6_Missense_Mutation_p.F106V|RNF217_ENST00000368414.2_Missense_Mutation_p.F24V			Q8TC41	RN217_HUMAN	ring finger protein 217	462					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		GCTCCGATTTTTTGGAGACCA	0.458																																																	0													173	159	164					6																	125397905		2203	4300	6503	SO:0001583	missense	0			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"RING-type (C3HC4) zinc fingers"	21487	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 172", "IBR domain containing 1"	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1384T>G	6.37:g.125397905T>G	ENSP00000428698:p.Phe462Val		H7C5V4|Q5TCA4|Q9BX48	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC	p.F227V	ENST00000521654.2	37	c.679		6	.	.	.	.	.	.	.	.	.	.	T	32	5.172606	0.94807	.	.	ENSG00000146373	ENST00000521654;ENST00000368414;ENST00000359704;ENST00000275184	T;T;T;T	0.62498	1.55;0.02;0.02;0.02	5.56	5.56	0.83823	Zinc finger, C6HC-type (1);	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;0.979	D;P	0.87578	0.998;0.883	T	0.73248	-0.4043	10	0.41790	T	0.15	.	16.0193	0.80468	0.0:0.0:0.0:1.0	.	170;227	Q8TC41;F2Z2M4	RN217_HUMAN;.	V	227;24;170;106	ENSP00000428698:F227V;ENSP00000357399:F24V;ENSP00000352734:F170V;ENSP00000275184:F106V	ENSP00000275184:F106V	F	+	1	0	RNF217	125439604	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.655000	0.83696	2.241000	0.73720	0.528000	0.53228	TTT	RNF217	-	smart_Znf_C6HC	ENSG00000146373		0.458	RNF217-002	NOVEL	basic|appris_principal	protein_coding	RNF217	HGNC	protein_coding	OTTHUMT00000042063.3	-	0	73	0	T	NM_152553		125397905	1	tier1	-	no_errors	ENST00000560949	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	G	G	125397905	T	G	125397905	3	3	79	1	0	0	0	0	1	0	0	0	13526	1841	64	4	522	4	RNF217	6	125397905	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	3797626	125397905	45717162	119	20775											
LAMA2	3908	genome.wustl.edu	37	chr6	129581967	129581967	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatactggctcctcttgtgaAgtaagcttgcaagaatgtat	11	14	9	7	0	1	2	0	1	1	1	2	2	2	2	1	1	3	5	1	1	7	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:129581967A>C	ENST00000421865.2	+	15	2257	c.2208A>C	c.(2206-2208)gaA>gaC	p.E736D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	736	Laminin EGF-like 5; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTCTTGTGAAGTAAGCTTGC	0.403																																																	0													161	141	148					6																	129581967		2203	4300	6503	SO:0001630	splice_region_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2208+1A>C	6.37:g.129581967A>C			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E736D	ENST00000421865.2	37	c.2208	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	A	14.36	2.513029	0.44660	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.53857	0.6	5.58	1.51	0.23008	EGF-like, laminin (1);	0.063918	0.64402	D	0.000009	T	0.62938	0.2469	M	0.87456	2.885	0.53005	D	0.999966	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.987	T	0.65553	-0.6140	10	0.46703	T	0.11	.	9.7192	0.40293	0.7554:0.0:0.2446:0.0	.	736;736	A6NF00;P24043	.;LAMA2_HUMAN	D	736	ENSP00000400365:E736D	ENSP00000346769:E736D	E	+	3	2	LAMA2	129623660	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	1.797000	0.38804	0.414000	0.25790	-0.256000	0.11100	GAA	LAMA2	-	pfam_EGF_laminin	ENSG00000196569		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	39	0	A		Missense_Mutation	129581967	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	C	C	129581967	A	C	129581967	5	2	79	1	0	0	0	0	0	0	1	0	8634	86	3	4	2266	4	LAMA2	6	129581967	Splice_Site	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	4184062	129581967	41533100	120	20776											
LAMA2	3908	genome.wustl.edu	37	chr6	129837421	129837421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaccaaaggcacaggcaagCcactggaggttaattttgcc	12	8	10	11	0	1	0	1	0	0	0	1	1	1	1	3	4	2	3	3	4	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:129837421C>T	ENST00000421865.2	+	65	9347	c.9298C>T	c.(9298-9300)Cca>Tca	p.P3100S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3100	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACAGGCAAGCCACTGGAGGT	0.488																																																	0													98	92	94					6																	129837421		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9298C>T	6.37:g.129837421C>T	ENSP00000400365:p.Pro3100Ser		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P3100S	ENST00000421865.2	37	c.9298	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	6.264	0.416874	0.11870	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.45276	0.9	5.79	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.109618	0.64402	D	0.000006	T	0.21761	0.0524	L	0.46157	1.445	0.43574	D	0.995906	B;B	0.32731	0.382;0.382	B;B	0.23275	0.045;0.045	T	0.03403	-1.1040	9	.	.	.	.	16.9083	0.86134	0.0:0.8724:0.1276:0.0	.	3101;3100	A6NF00;P24043	.;LAMA2_HUMAN	S	3100;3099;3100	ENSP00000400365:P3100S	.	P	+	1	0	LAMA2	129879114	0.998000	0.40836	0.912000	0.35992	0.091000	0.18340	1.057000	0.30492	2.734000	0.93682	0.655000	0.94253	CCA	LAMA2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000196569		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	86	0	C			129837421	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	47.22	38	34	SNP	0.896	T	T	129837421	C	T	129837421	3	4	79	1	0	0	0	0	1	0	0	0	8634	739	26	3	9556	3	LAMA2	6	129837421	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	255454	129837421	41277646	121	20777											
HIVEP2	3097	genome.wustl.edu	37	chr6	143092548	143092548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggaggccagcatgcaggtGctccagctgctcttgcttca	6	9	12	14	1	2	0	1	0	1	0	3	1	3	1	3	3	6	6	3	3	0	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:143092548G>T	ENST00000367604.1	-	4	3967	c.3328C>A	c.(3328-3330)Cac>Aac	p.H1110N	HIVEP2_ENST00000367603.2_Missense_Mutation_p.H1110N|HIVEP2_ENST00000012134.2_Missense_Mutation_p.H1110N			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCATGCAGGTGCTCCAGCTGC	0.627																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													43	49	47					6																	143092548		2119	4248	6367	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.3328C>A	6.37:g.143092548G>T	ENSP00000356576:p.His1110Asn		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1110N	ENST00000367604.1	37	c.3328	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587920	0.28268	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.44482	0.92;0.92;0.92	5.67	5.67	0.87782	.	0.229191	0.52532	D	0.000064	T	0.27967	0.0689	M	0.61703	1.905	0.80722	D	1	B	0.31383	0.321	B	0.23275	0.045	T	0.09207	-1.0685	10	0.22109	T	0.4	-0.8158	19.7763	0.96395	0.0:0.0:1.0:0.0	.	1110	P31629	ZEP2_HUMAN	N	1110	ENSP00000356576:H1110N;ENSP00000356575:H1110N;ENSP00000012134:H1110N	ENSP00000012134:H1110N	H	-	1	0	HIVEP2	143134241	1.000000	0.71417	0.935000	0.37517	0.277000	0.26821	8.620000	0.90943	2.687000	0.91594	0.563000	0.77884	CAC	HIVEP2	-	NULL	ENSG00000010818		0.627	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1		0	55	0	G			143092548	-1			no_errors	ENST00000012134	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	143092548	G	T	143092548	3	4	79	1	0	0	0	0	1	0	0	0	7214	1319	46	3	4036	3	HIVEP2	6	143092548	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	13255127	143092548	28022519	122	20778											
SHPRH	257218	genome.wustl.edu	37	chr6	146264331	146264331	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatctcatccacccacTggtgacagatggaacttgga	10	11	10	10	0	1	3	1	2	1	1	3	5	2	5	2	3	1	1	2	3	1	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:146264331T>A	ENST00000367505.2	-	9	2450	c.2186A>T	c.(2185-2187)cAg>cTg	p.Q729L	SHPRH_ENST00000275233.7_Missense_Mutation_p.Q729L|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q729L|SHPRH_ENST00000367503.3_Missense_Mutation_p.Q729L			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	729	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCCACCCACTGGTGACAGAT	0.473																																																	0													81	81	81					6																	146264331		1965	4149	6114	SO:0001583	missense	0			AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"RING-type (C3HC4) zinc fingers"	19336	protein-coding gene	gene with protein product		608048	"SNF2 histone linker PHD RING helicase"			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2186A>T	6.37:g.146264331T>A	ENSP00000356475:p.Gln729Leu		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C	p.Q729L	ENST00000367505.2	37	c.2186	CCDS43513.2	6	.	.	.	.	.	.	.	.	.	.	T	28.0	4.884542	0.91814	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-4.06	5.36	5.36	0.76844	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.98498	0.9499	M	0.93763	3.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.996;1.0	D;D;D;D	0.91635	0.996;0.962;0.936;0.999	D	0.99809	1.1040	10	0.87932	D	0	-18.0232	15.6522	0.77108	0.0:0.0:0.0:1.0	.	618;729;729;618	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	L	729;729;729;729;618	ENSP00000356475:Q729L;ENSP00000356473:Q729L;ENSP00000412797:Q729L;ENSP00000275233:Q729L	ENSP00000275233:Q729L	Q	-	2	0	SHPRH	146306024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.970000	0.88000	2.167000	0.68274	0.528000	0.53228	CAG	SHPRH	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd	ENSG00000146414		0.473	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHPRH	HGNC	protein_coding	OTTHUMT00000042571.2	-	0	29	0	T	NM_173082		146264331	-1	tier1	-	no_errors	ENST00000367503	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	A	A	146264331	T	A	146264331	3	1	79	1	0	0	0	0	1	0	0	0	14336	1580	55	5	2997	5	SHPRH	6	146264331	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	3171783	146264331	24850736	123	20779											
NOX3	50508	genome.wustl.edu	37	chr6	155775963	155775963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatacttgttcctcttatGaatgaaataaggtttcgact	13	15	6	7	1	1	2	0	2	1	0	3	3	2	2	1	1	1	2	1	1	6	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr6:155775963G>T	ENST00000159060.2	-	3	339	c.237C>A	c.(235-237)ttC>ttA	p.F79L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	79	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.F79L(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTCCTCTTATGAATGAAATAA	0.363																																																	1	Substitution - Missense(1)	prostate(1)											56	56	56					6																	155775963		2203	4299	6502	SO:0001583	missense	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.237C>A	6.37:g.155775963G>T	ENSP00000159060:p.Phe79Leu		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.F79L	ENST00000159060.2	37	c.237	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493388	0.26774	.	.	ENSG00000074771	ENST00000159060	D	0.95069	-3.6	5.7	1.27	0.21489	Flavoprotein transmembrane component (1);	0.087937	0.49916	N	0.000126	T	0.75781	0.3896	N	0.17248	0.465	0.31189	N	0.701198	B	0.19817	0.039	B	0.26693	0.072	T	0.61912	-0.6965	10	0.20519	T	0.43	-13.2335	5.1634	0.15073	0.4066:0.1546:0.4388:0.0	.	79	Q9HBY0	NOX3_HUMAN	L	79	ENSP00000159060:F79L	ENSP00000159060:F79L	F	-	3	2	NOX3	155817655	0.785000	0.28726	0.967000	0.41034	0.991000	0.79684	1.035000	0.30216	0.320000	0.23234	0.650000	0.86243	TTC	NOX3	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000074771		0.363	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1		0	31	0	G			155775963	-1			no_errors	ENST00000159060	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.954	T	T	155775963	G	T	155775963	3	4	79	1	0	0	0	0	1	0	0	0	10596	1281	45	3	1513	3	NOX3	6	155775963	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	9511632	155775963	15339104	124	20780											
TNRC18	84629	genome.wustl.edu	37	chr7	5353350	5353350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgggctgcggcggtgccGggcgcgccttgggggccttg	1	7	21	12	5	0	0	0	0	0	0	0	1	0	0	3	6	2	1	3	6	0	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:5353350G>A	ENST00000430969.1	-	27	7520	c.7172C>T	c.(7171-7173)cCg>cTg	p.P2391L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2391L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2391	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGCGGTGCCGGGCGCGCCTT	0.706																																																	0													11	13	13					7																	5353350		1559	3568	5127	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7172C>T	7.37:g.5353350G>A	ENSP00000395538:p.Pro2391Leu		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P2391L	ENST00000430969.1	37	c.7172	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	1.200	-0.632896	0.03584	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.11495	2.77;2.77	4.73	0.103	0.14526	.	0.788562	0.10395	N	0.679923	T	0.07954	0.0199	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.34254	-0.9836	10	0.62326	D	0.03	.	6.6427	0.22919	0.6691:0.0:0.3309:0.0	.	2391	O15417	TNC18_HUMAN	L	2391	ENSP00000382452:P2391L;ENSP00000395538:P2391L	ENSP00000382452:P2391L	P	-	2	0	TNRC18	5319876	0.090000	0.21635	0.010000	0.14722	0.010000	0.07245	0.575000	0.23729	0.094000	0.17404	-0.258000	0.10820	CCG	TNRC18	-	NULL	ENSG00000182095		0.706	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		-	0	148	0	G			5353350	-1	tier1	-	no_errors	ENST00000399537	ensembl	human	known	74_37	missense	38.10	52	32	SNP	0.007	A	A	5353350	G	A	5353350	3	1	79	1	0	0	0	0	1	0	0	0	16386	1116	39	1	1750	1	TNRC18	7	5353350	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09		5353350	153785313	125	20781											
SNX13	23161	genome.wustl.edu	37	chr7	17855816	17855816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcttacctgcaaatatgCatttagatccttttttctct	9	18	5	9	0	1	2	0	1	1	1	3	2	2	2	2	0	4	3	2	0	4	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:17855816C>T	ENST00000409389.1	-	19	2147	c.1975G>A	c.(1975-1977)Gca>Aca	p.A659T	SNX13_ENST00000428135.3_Missense_Mutation_p.A648T|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	659	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGCAAATATGCATTTAGATCC	0.289																																																	0													56	54	55					7																	17855816		1670	3808	5478	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1975G>A	7.37:g.17855816C>T	ENSP00000386705:p.Ala659Thr		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.A648T	ENST00000409389.1	37	c.1942		7	.	.	.	.	.	.	.	.	.	.	C	19.91	3.915040	0.72983	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.39997	1.05;1.05	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	N	0.25060	0.705	0.80722	D	1	P;B;P	0.48089	0.87;0.153;0.905	P;B;B	0.45753	0.492;0.18;0.359	T	0.03773	-1.1005	10	0.19590	T	0.45	-13.4562	19.0833	0.93192	0.0:1.0:0.0:0.0	.	445;659;648	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	T	659;648;696	ENSP00000386705:A659T;ENSP00000398789:A648T	ENSP00000242044:A696T	A	-	1	0	SNX13	17822341	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.289000	0.59013	2.753000	0.94483	0.467000	0.42956	GCA	SNX13	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000071189		0.289	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	-	0	82	0	C	NM_015132		17855816	-1	tier1	-	no_errors	ENST00000428135	ensembl	human	known	74_37	missense	40.91	39	27	SNP	1.000	T	T	17855816	C	T	17855816	3	4	79	1	0	0	0	0	1	0	0	0	14929	710	25	3	963	3	SNX13	7	17855816	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	12502466	17855816	141282847	126	20782											
SP4	6671	genome.wustl.edu	37	chr7	21470141	21470141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcagtaaatccgactcAggtgcttatcagggctccaa	12	9	9	11	1	3	0	3	0	0	0	5	1	5	0	2	2	2	4	2	2	5	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:21470141A>G	ENST00000222584.3	+	3	1576	c.1358A>G	c.(1357-1359)cAg>cGg	p.Q453R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	453					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AATCCGACTCAGGTGCTTATC	0.448																																																	0													147	147	147					7																	21470141		2203	4300	6503	SO:0001583	missense	0				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1358A>G	7.37:g.21470141A>G	ENSP00000222584:p.Gln453Arg		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q453R	ENST00000222584.3	37	c.1358	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216022	0.58452	.	.	ENSG00000105866	ENST00000222584	T	0.10668	2.85	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.22859	0.0552	L	0.51422	1.61	0.80722	D	1	P	0.45126	0.851	P	0.55391	0.775	T	0.00385	-1.1773	10	0.52906	T	0.07	.	14.7047	0.69179	1.0:0.0:0.0:0.0	.	453	Q02446	SP4_HUMAN	R	453	ENSP00000222584:Q453R	ENSP00000222584:Q453R	Q	+	2	0	SP4	21436666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.809000	0.75211	2.054000	0.61138	0.460000	0.39030	CAG	SP4	-	NULL	ENSG00000105866		0.448	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	-	0	61	0	A	NM_003112		21470141	1	tier1	-	no_errors	ENST00000222584	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	G	G	21470141	A	G	21470141	3	3	79	1	0	0	0	0	1	0	0	0	15011	188	7	4	1368	4	SP4	7	21470141	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	3614325	21470141	137668522	127	20783											
C7orf16	10842	genome.wustl.edu	37	chr7	31735172	31735172	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaccctgaatgttgagTcagaccaaaaaaaaccaagg	17	5	9	10	0	1	3	1	2	0	1	1	3	1	3	4	2	1	1	4	2	6	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:31735172T>G	ENST00000342032.3	+	3	800	c.172T>G	c.(172-174)Tca>Gca	p.S58A	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	58					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAATGTTGAGTCAGACCAAAA	0.428																																																	0													142	138	139					7																	31735172		2203	4300	6503	SO:0001583	missense	0			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	16973	protein-coding gene	gene with protein product	"G-substrate"	604088	"chromosome 7 open reading frame 16"	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.172T>G	7.37:g.31735172T>G	ENSP00000340125:p.Ser58Ala		B4DE58|Q9UDQ0	Missense_Mutation	SNP	NULL	p.S58A	ENST00000342032.3	37	c.172	CCDS5436.1	7	.	.	.	.	.	.	.	.	.	.	T	5.280	0.236993	0.10023	.	.	ENSG00000106341	ENST00000342032	T	0.32272	1.46	5.45	4.28	0.50868	.	0.405543	0.23402	N	0.048576	T	0.24547	0.0595	L	0.56769	1.78	0.46458	D	0.99905	B	0.06786	0.001	B	0.06405	0.002	T	0.09862	-1.0655	10	0.21014	T	0.42	-5.4658	4.1516	0.10240	0.0:0.1786:0.1832:0.6382	.	58	O96001	PPR17_HUMAN	A	58	ENSP00000340125:S58A	ENSP00000340125:S58A	S	+	1	0	C7orf16	31701697	0.966000	0.33281	0.862000	0.33874	0.998000	0.95712	2.033000	0.41136	0.979000	0.38497	0.533000	0.62120	TCA	PPP1R17	-	NULL	ENSG00000106341		0.428	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	-	0	45	0	T	NM_006658		31735172	1	tier1	-	no_errors	ENST00000342032	ensembl	human	known	74_37	missense	42.86	24	18	SNP	0.692	G	G	31735172	T	G	31735172	3	3	79	1	0	0	0	0	1	0	0	0	2385	1667	58	4	178	4	C7orf16	7	31735172	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	10265031	31735172	127403491	128	20784											
ELMO1	9844	genome.wustl.edu	37	chr7	37382289	37382289	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgatgtccgcgggtggCggcattgtaagtccccaaaa	9	9	13	10	4	0	1	0	1	0	0	2	2	2	1	3	3	0	2	3	3	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:37382289C>A	ENST00000310758.4	-	2	653	c.6G>T	c.(4-6)ccG>ccT	p.P2P	ELMO1_ENST00000448602.1_Silent_p.P2P|ELMO1_ENST00000442504.1_Silent_p.P2P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	2					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCGCGGGTGGCGGCATTGTAA	0.502																																																	0													109	113	112					7																	37382289		2203	4300	6503	SO:0001819	synonymous_variant	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.6G>T	7.37:g.37382289C>A			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.P2	ENST00000310758.4	37	c.6	CCDS5449.1	7																																																																																			ELMO1	-	NULL	ENSG00000155849		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	31	0	C	NM_130442		37382289	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	silent	56.00	11	14	SNP	0.929	A	A	37382289	C	A	37382289	2	1	79	1	0	0	0	0	0	0	0	1	5081	755	27	2		2	ELMO1	7	37382289	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	5647117	37382289	121756374	129	20785											
TXNDC3	51314	genome.wustl.edu	37	chr7	37927917	37927917	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggacagtttgccggtcaAccagttgtatggcagcgatt	9	11	13	8	2	1	0	1	0	0	0	1	3	1	1	2	3	3	4	2	3	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:37927917A>C	ENST00000199447.4	+	15	1658	c.1286A>C	c.(1285-1287)aAc>aCc	p.N429T	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.N429T	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	429	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTGCCGGTCAACCAGTTGTAT	0.373																																																	0													99	96	97					7																	37927917		2203	4300	6503	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1286A>C	7.37:g.37927917A>C	ENSP00000199447:p.Asn429Thr		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.N429T	ENST00000199447.4	37	c.1286	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852606	0.32699	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.71461	-0.57;-0.57	4.42	0.795	0.18643	.	0.352023	0.24280	N	0.039909	D	0.86322	0.5905	H	0.96111	3.77	0.33671	D	0.61095	D	0.89917	1.0	D	0.97110	1.0	D	0.87270	0.2285	10	0.87932	D	0	-20.691	8.2077	0.31465	0.7496:0.0:0.2504:0.0	.	429	Q8N427	TXND3_HUMAN	T	429	ENSP00000199447:N429T;ENSP00000397063:N429T	ENSP00000199447:N429T	N	+	2	0	TXNDC3	37894442	1.000000	0.71417	0.988000	0.46212	0.062000	0.15995	3.293000	0.51779	0.137000	0.18759	-0.371000	0.07208	AAC	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.373	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	44	0	A	NM_016616		37927917	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	52.94	16	18	SNP	1.000	C	C	37927917	A	C	37927917	3	2	79	1	0	0	0	0	1	0	0	0	16847	43	2	4	1336	4	TXNDC3	7	37927917	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	545628	37927917	121210746	130	20786											
AEBP1	165	genome.wustl.edu	37	chr7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-																															tgaggaagaggaggaggaggAgaaagaggaggagatagcca																								rs13928	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																																	0																																										SO:0001651	inframe_deletion	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.K1133in_frame_del	ENST00000223357.3	37	c.3395_3397	CCDS5476.1	7																																																																																			AEBP1	-	NULL	ENSG00000106624		0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2		0	43	0	AGA	NM_001129		44153780	1	tier1		no_errors	ENST00000223357	ensembl	human	known	74_37	in_frame_del	11.11	16	2	DEL	0.009:0.011:0.010	-	-	44153780	AGA	-	44153778	7	5	79	1	0	1	0	1	0	0	0	0	349	304	11	0	3477	0	AEBP1	7	44153778	In_Frame_Del	DEL	AGA	TCGA-L5-A8NE-01A-11D-A37C-09	6225861	44153778	114984885	131	20787											
PKD1L1	168507	genome.wustl.edu	37	chr7	47944879	47944880	+	Frame_Shift_Del	DEL	TG	TG	-																															acagctgtaaatgtaatgtcTgtgtctgtggcaaacacagt																								rs377086330		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:47944879_47944880delTG	ENST00000289672.2	-	11	1615_1616	c.1565_1566delCA	c.(1564-1566)acafs	p.T522fs		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	522	PKD 1. {ECO:0000255|PROSITE- ProRule:PRU00151}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGTAATGTCTGTGTCTGTGGC	0.441																																																	0																																										SO:0001589	frameshift_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1565_1566delCA	7.37:g.47944881_47944882delTG	ENSP00000289672:p.Thr522fs		Q6UWK1	Frame_Shift_Del	DEL	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.T522fs	ENST00000289672.2	37	c.1566_1565	CCDS34633.1	7																																																																																			PKD1L1	-	smart_PKD/Chitinase_dom	ENSG00000158683		0.441	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0	54	0	TG	NM_138295		47944880	-1	tier1		no_errors	ENST00000289672	ensembl	human	known	74_37	frame_shift_del	12.00	44	6	DEL	0.001:0.001	-	-	47944880	TG	-	47944879	7	5	79	1	0	1	0	1	0	0	0	0	12003	1567	55	0	7171	0	PKD1L1	7	47944879	Frame_Shift_Del	DEL	TG	TCGA-L5-A8NE-01A-11D-A37C-09	3791101	47944879	111193784	132	20788											
FIGNL1	63979	genome.wustl.edu	37	chr7	50514642	50514642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttgcatcatcttctgtAcactactcattttgaaaaca	12	14	4	11	0	4	1	2	1	2	0	4	1	4	1	0	0	5	3	0	0	4	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:50514642A>G	ENST00000419119.1	-	2	1897	c.344T>C	c.(343-345)gTa>gCa	p.V115A	FIGNL1_ENST00000433017.1_Missense_Mutation_p.V115A|FIGNL1_ENST00000435566.1_3'UTR|FIGNL1_ENST00000395556.2_Missense_Mutation_p.V115A|FIGNL1_ENST00000356889.4_Missense_Mutation_p.V115A			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	115					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CATCTTCTGTACACTACTCAT	0.383																																																	0													92	93	93					7																	50514642		2203	4300	6503	SO:0001583	missense	0			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.344T>C	7.37:g.50514642A>G	ENSP00000410811:p.Val115Ala		D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V115A	ENST00000419119.1	37	c.344	CCDS5510.1	7	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646662	0.67358	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119;ENST00000436590	T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89	5.22	4.06	0.47325	.	0.144791	0.44285	N	0.000476	T	0.27489	0.0675	L	0.61387	1.9	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.06807	-1.0806	10	0.72032	D	0.01	-11.5374	11.0491	0.47876	0.9263:0.0:0.0737:0.0	.	115	Q6PIW4	FIGL1_HUMAN	A	115	ENSP00000349356:V115A;ENSP00000378924:V115A;ENSP00000399997:V115A;ENSP00000410811:V115A;ENSP00000394070:V115A	ENSP00000349356:V115A	V	-	2	0	FIGNL1	50482136	1.000000	0.71417	0.140000	0.22221	0.976000	0.68499	6.964000	0.76061	0.929000	0.37192	0.460000	0.39030	GTA	FIGNL1	-	NULL	ENSG00000132436		0.383	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FIGNL1	HGNC	protein_coding	OTTHUMT00000342579.1	-	0	36	0	A	NM_001042762		50514642	-1	tier1	-	no_errors	ENST00000356889	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.952	G	G	50514642	A	G	50514642	3	3	79	1	0	0	0	0	1	0	0	0	5914	391	14	4	1684	4	FIGNL1	7	50514642	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	2569763	50514642	108624021	133	20789											
DDC	1644	genome.wustl.edu	37	chr7	50596980	50596980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggacgctgcctgcagccGatggatcactttggtccgag	6	9	15	11	3	1	0	1	0	0	0	2	4	2	2	3	4	3	2	3	4	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:50596980G>A	ENST00000444124.2	-	5	696	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	DDC_ENST00000380984.4_Missense_Mutation_p.R166W|DDC_ENST00000357936.5_Missense_Mutation_p.R166W|DDC_ENST00000431062.1_Intron|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Missense_Mutation_p.R88W|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	166	2 X approximate tandem repeats.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.R166W(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCCTGCAGCCGATGGATCACT	0.562																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001583	missense	0				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.496C>T	7.37:g.50596980G>A	ENSP00000403644:p.Arg166Trp		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R166W	ENST00000444124.2	37	c.496	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456282	0.26161	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.15	4.27	0.50696	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.540481	0.20832	N	0.084878	T	0.53594	0.1806	L	0.53671	1.685	0.18873	N	0.999989	D	0.71674	0.998	D	0.66084	0.941	T	0.44267	-0.9339	10	0.87932	D	0	-25.3651	7.8243	0.29305	0.0827:0.0:0.7568:0.1605	.	166	P20711	DDC_HUMAN	W	166;88;166;166	ENSP00000350616:R166W;ENSP00000395069:R88W;ENSP00000403644:R166W;ENSP00000370371:R166W	ENSP00000350616:R166W	R	-	1	2	DDC	50564474	0.001000	0.12720	0.153000	0.22517	0.004000	0.04260	0.960000	0.29253	1.406000	0.46857	-0.136000	0.14681	CGG	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	ENSG00000132437		0.562	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1	-	0	47	0	G			50596980	-1	tier1	-	no_errors	ENST00000357936	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.074	A	A	50596980	G	A	50596980	3	1	79	1	0	0	0	0	1	0	0	0	4334	1057	37	1	986	1	DDC	7	50596980	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	82338	50596980	108541683	134	20790											
AUTS2	26053	genome.wustl.edu	37	chr7	70254984	70254984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacggccacgaggggcgcGccgcgggcgaagaggccaag	8	0	20	13	7	0	1	0	0	0	1	0	3	0	1	3	6	0	1	3	6	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:70254984G>A	ENST00000342771.4	+	19	3103	c.2782G>A	c.(2782-2784)Gcc>Acc	p.A928T	AUTS2_ENST00000406775.2_Missense_Mutation_p.A904T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	928										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGAGGGGCGCGCCGCGGGCGA	0.716																																																	0													13	15	14					7																	70254984		2181	4272	6453	SO:0001583	missense	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2782G>A	7.37:g.70254984G>A	ENSP00000344087:p.Ala928Thr		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.A928T	ENST00000342771.4	37	c.2782	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	G	8.885	0.952596	0.18431	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.29397	1.57;1.57	4.28	1.42	0.22433	.	0.311579	0.33092	N	0.005286	T	0.15609	0.0376	L	0.27053	0.805	0.09310	N	1	B;B;B	0.24963	0.0;0.115;0.115	B;B;B	0.10450	0.001;0.005;0.005	T	0.14755	-1.0461	9	.	.	.	-3.6824	5.0907	0.14706	0.3254:0.1421:0.5325:0.0	.	380;904;928	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	T	904;928	ENSP00000385263:A904T;ENSP00000344087:A928T	.	A	+	1	0	AUTS2	69892920	0.002000	0.14202	0.066000	0.19879	0.875000	0.50365	1.077000	0.30741	0.466000	0.27193	0.655000	0.94253	GCC	AUTS2	-	NULL	ENSG00000158321		0.716	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0	33	0	G			70254984	1	tier1	-	no_errors	ENST00000342771	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.002	A	A	70254984	G	A	70254984	3	1	79	1	0	0	0	0	1	0	0	0	1226	1087	38	1	3001	1	AUTS2	7	70254984	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	19658004	70254984	88883679	135	20791											
PCLO	27445	genome.wustl.edu	37	chr7	82390054	82390055	+	Frame_Shift_Ins	INS	-	-	T																															ttgtttttttcttgatcaccINStttttttgggtagaaatatt																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:82390054_82390055insT	ENST00000333891.9	-	24	15525_15526	c.15188_15189insA	c.(15187-15189)aagfs	p.K5063fs		NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTGATCACCTTTTTTTGGGT	0.317																																																	0																																										SO:0001589	frameshift_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.15189dupA	7.37:g.82390061_82390061dupT	ENSP00000334319:p.Lys5063fs			Frame_Shift_Ins	INS	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.V5064fs	ENST00000333891.9	37	c.15189_15188	CCDS47630.1	7																																																																																			PCLO	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000186472		0.317	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0	64	0	-	NM_014510		82390055	-1	tier1		no_errors	ENST00000333891	ensembl	human	known	74_37	frame_shift_ins	30.30	23	10	INS	1.000:1.000	T	T	82390055	-	T	82390054	7	5	79	1	0	1	1	0	0	0	0	0	11622	680	24	0	247	0	PCLO	7	82390054	Frame_Shift_Ins	INS	-	TCGA-L5-A8NE-01A-11D-A37C-09	12135070	82390054	76748609	136	20792											
STEAP4	79689	genome.wustl.edu	37	chr7	87908875	87908875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgagatttgaagggctgagGaatctcttcccaccgtacac	10	10	10	11	1	1	3	0	3	1	1	3	5	2	4	2	2	1	2	2	2	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:87908875G>C	ENST00000380079.4	-	5	1319	c.1218C>G	c.(1216-1218)ttC>ttG	p.F406L	STEAP4_ENST00000301959.5_Missense_Mutation_p.F230L|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000594469.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	406					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAGGGCTGAGGAATCTCTTCC	0.438																																																	0													104	111	109					7																	87908875		1979	4143	6122	SO:0001583	missense	0			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.1218C>G	7.37:g.87908875G>C	ENSP00000369419:p.Phe406Leu		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.F406L	ENST00000380079.4	37	c.1218	CCDS43611.1	7	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208744	0.58343	.	.	ENSG00000127954	ENST00000380079;ENST00000301959	T;T	0.11277	3.18;2.79	5.8	4.92	0.64577	.	0.136414	0.49916	U	0.000125	T	0.30008	0.0751	M	0.76002	2.32	0.80722	D	1	D;D	0.69078	0.997;0.962	D;P	0.76575	0.988;0.702	T	0.00733	-1.1589	10	0.25751	T	0.34	-14.1903	13.172	0.59604	0.0755:0.0:0.9245:0.0	.	230;406	Q687X5-2;Q687X5	.;STEA4_HUMAN	L	406;230	ENSP00000369419:F406L;ENSP00000305545:F230L	ENSP00000305545:F230L	F	-	3	2	STEAP4	87746811	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	2.462000	0.45049	2.744000	0.94065	0.655000	0.94253	TTC	STEAP4	-	NULL	ENSG00000127954		0.438	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP4	HGNC	protein_coding	OTTHUMT00000332712.4	-	0	59	0	G	NM_024636		87908875	-1	tier1	-	no_errors	ENST00000380079	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	C	C	87908875	G	C	87908875	3	2	79	1	0	0	0	0	1	0	0	0	15327	1165	41	5	165	5	STEAP4	7	87908875	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	5518821	87908875	71229788	137	20793											
MLL5	55904	genome.wustl.edu	37	chr7	104748371	104748371	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatccaccacaaaagaaaaAggttacaaatttaacaattt	21	9	4	7	0	0	1	0	0	0	1	1	2	1	1	2	1	2	1	2	1	9	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:104748371A>G	ENST00000311117.3	+	22	4012	c.3467A>G	c.(3466-3468)aAg>aGg	p.K1156R	KMT2E_ENST00000334914.7_Splice_Site_p.K211R|KMT2E_ENST00000257745.4_Splice_Site_p.K1156R|CTB-152G17.6_ENST00000607968.1_RNA|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000334877.4_Splice_Site_p.K1156R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1156					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CAAAAGAAAAAGGTTACAAAT	0.343																																																	0													28	30	29					7																	104748371		2182	4294	6476	SO:0001630	splice_region_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3468+1A>G	7.37:g.104748371A>G			B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.K1156R	ENST00000311117.3	37	c.3467	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	27.8	4.867904	0.91587	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	L	0.34521	1.04	0.53688	D	0.999973	D	0.69078	0.997	D	0.75020	0.985	T	0.55082	-0.8196	10	0.52906	T	0.07	.	16.2375	0.82384	1.0:0.0:0.0:0.0	.	1156	Q8IZD2	MLL5_HUMAN	R	1156;1156;1156;1076;1156;211	ENSP00000312379:K1156R;ENSP00000335599:K1156R;ENSP00000257745:K1156R;ENSP00000333986:K211R	ENSP00000257745:K1156R	K	+	2	0	MLL5	104535607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.476000	0.90421	2.222000	0.72286	0.533000	0.62120	AAG	KMT2E	-	NULL	ENSG00000005483		0.343	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	59	0	A		Missense_Mutation	104748371	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	104748371	A	G	104748371	5	3	79	1	0	0	0	0	0	0	1	0	9662	86	3	4	3545	4	MLL5	7	104748371	Splice_Site	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	16839496	104748371	54390292	138	20794											
LRRN3	54674	genome.wustl.edu	37	chr7	110763556	110763556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacttagaaagcatctcttTttacgataacaggcttatta	15	14	5	7	1	1	1	0	0	1	1	2	2	1	1	0	1	4	2	0	1	7	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:110763556T>C	ENST00000422987.3	+	2	1559	c.728T>C	c.(727-729)tTt>tCt	p.F243S	IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.F243S|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.F243S|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000452895.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	243					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCATCTCTTTTTACGATAAC	0.348																																																	0													57	61	59					7																	110763556		2203	4298	6501	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.728T>C	7.37:g.110763556T>C	ENSP00000412417:p.Phe243Ser		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.F243S	ENST00000422987.3	37	c.728	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294595	0.60086	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000009	T	0.76593	0.4009	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79305	-0.1858	10	0.87932	D	0	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	243	Q9H3W5	LRRN3_HUMAN	S	243	ENSP00000312001:F243S;ENSP00000397312:F243S;ENSP00000412417:F243S;ENSP00000407927:F243S	ENSP00000312001:F243S	F	+	2	0	LRRN3	110550792	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	TTT	LRRN3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000173114		0.348	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0	64	0	T	NM_018334		110763556	1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	C	C	110763556	T	C	110763556	3	2	79	1	0	0	0	0	1	0	0	0	9071	1841	64	4	730	4	LRRN3	7	110763556	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	6015185	110763556	48375107	139	20795											
TBXAS1	6916	genome.wustl.edu	37	chr7	139655362	139655362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtgaaacactgcaagcGtttcttcgaattctgcatcc	9	14	7	11	2	2	1	0	1	2	0	4	2	3	1	1	0	4	3	1	0	3	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:139655362G>T	ENST00000336425.5	+	11	1033	c.644G>T	c.(643-645)cGt>cTt	p.R215L	TBXAS1_ENST00000436047.2_Missense_Mutation_p.R216L|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R215L|TBXAS1_ENST00000263552.6_Missense_Mutation_p.R216L|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R262L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R261L|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R216L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R215L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R148L			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	215					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	CACTGCAAGCGTTTCTTCGAA	0.577																																																	0													74	80	78					7																	139655362		2203	4300	6503	SO:0001583	missense	0			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"Cytochrome P450s"	11609	protein-coding gene	gene with protein product	"cytochrome P450, family 5, subfamily A, polypeptide 1"	274180	"thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.644G>T	7.37:g.139655362G>T	ENSP00000338087:p.Arg215Leu		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R262L	ENST00000336425.5	37	c.785		7	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580470	0.46006	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.91	5.91	0.95273	.	0.317652	0.35436	N	0.003201	T	0.68897	0.3051	M	0.80616	2.505	0.26667	N	0.971798	B;B;B;B;B;B;B	0.27166	0.05;0.105;0.054;0.17;0.135;0.054;0.054	B;B;B;B;B;B;B	0.30646	0.098;0.069;0.039;0.048;0.118;0.063;0.044	T	0.63945	-0.6522	10	0.44086	T	0.13	.	12.1224	0.53900	0.0:0.1363:0.7377:0.126	.	196;262;167;148;216;216;215	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	L	148;216;215;262;216;216;215;261;215	ENSP00000388736:R148L;ENSP00000263552:R216L;ENSP00000338087:R215L;ENSP00000389414:R262L;ENSP00000392361:R216L;ENSP00000392702:R216L;ENSP00000402536:R215L;ENSP00000411274:R261L;ENSP00000411326:R215L	ENSP00000263552:R216L	R	+	2	0	TBXAS1	139301831	0.025000	0.19082	0.864000	0.33941	0.706000	0.40770	1.886000	0.39688	2.793000	0.96121	0.655000	0.94253	CGT	TBXAS1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000059377		0.577	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348373.1		0	43	0	G			139655362	1			no_errors	ENST00000416849	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.427	T	T	139655362	G	T	139655362	3	4	79	1	0	0	0	0	1	0	0	0	15711	1145	40	2	815	2	TBXAS1	7	139655362	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	28891806	139655362	19483301	140	20796											
OR2A1	346528	genome.wustl.edu	37	chr7	144015564	144015564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgtctcctgctggtgcTgatgtcctacgatcgttacg	6	13	11	11	4	1	1	0	1	1	0	4	3	2	1	2	1	4	3	2	1	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr7:144015564T>G	ENST00000408951.1	+	1	347	c.347T>G	c.(346-348)cTg>cGg	p.L116R	OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					CTGCTGGTGCTGATGTCCTAC	0.557																																																	0													69	78	75					7																	144015564		2195	4294	6489	SO:0001583	missense	0				CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"GPCR / Class A : Olfactory receptors"	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.347T>G	7.37:g.144015564T>G	ENSP00000386175:p.Leu116Arg		Q6IF44|Q96R46	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L116R	ENST00000408951.1	37	c.347	CCDS43673.1	7	.	.	.	.	.	.	.	.	.	.	t	5.992	0.366967	0.11352	.	.	ENSG00000221970	ENST00000408951	T	0.03330	3.97	2.96	1.71	0.24356	.	.	.	.	.	T	0.06142	0.0159	L	0.60455	1.87	0.22142	N	0.99933	.	.	.	.	.	.	T	0.35748	-0.9776	7	0.87932	D	0	.	2.3405	0.04259	0.2448:0.1402:0.0:0.6151	.	.	.	.	R	116	ENSP00000386175:L116R	ENSP00000386175:L116R	L	+	2	0	OR2A1	143646497	0.000000	0.05858	0.932000	0.37286	0.028000	0.11728	0.302000	0.19192	0.299000	0.22661	0.402000	0.26972	CTG	OR2A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000221970		0.557	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A1	HGNC	protein_coding	OTTHUMT00000349985.1	-	0	81	0	T			144015564	1	tier1	-	no_errors	ENST00000408951	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.803	G	G	144015564	T	G	144015564	3	3	79	1	0	0	0	0	1	0	0	0	11013	1580	55	4	349	4	OR2A1	7	144015564	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	4360202	144015564	15123099	141	20797											
LOXL2	4017	genome.wustl.edu	37	chr8	23155605	23155605	+	Frame_Shift_Del	DEL	T	T	-																															gcccgctgaagtgctcaaacTttttttccgtctcttcgctg																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:23155605delT	ENST00000389131.3	-	14	2645	c.2276delA	c.(2275-2277)aagfs	p.K759fs		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	759					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GTGCTCAAACTTTTTTTCCGT	0.537																																																	0													75	72	73					8																	23155605		2203	4300	6503	SO:0001589	frameshift_variant	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.2276delA	8.37:g.23155605delT	ENSP00000373783:p.Lys759fs		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Frame_Shift_Del	DEL	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.K759fs	ENST00000389131.3	37	c.2276	CCDS34864.1	8																																																																																			LOXL2	-	NULL	ENSG00000134013		0.537	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1		0	53	0	T			23155605	-1	tier1		no_errors	ENST00000389131	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.994	-	-	23155605	T	-	23155605	7	5	79	1	0	1	0	1	0	0	0	0	8935	1609	56	0	52	0	LOXL2	8	23155605	Frame_Shift_Del	DEL	T	TCGA-L5-A8NE-01A-11D-A37C-09		23155605	123208417	142	20798											
NRG1	3084	genome.wustl.edu	37	chr8	32463100	32463100	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtcagaacttcgcattaAcaaagcatcactggctgatt	14	10	8	9	1	2	2	2	1	0	1	3	3	2	2	0	1	3	3	0	1	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:32463100A>C	ENST00000405005.3	+	3	299	c.299A>C	c.(298-300)aAc>aCc	p.N100T	NRG1_ENST00000287842.3_Missense_Mutation_p.N100T|NRG1_ENST00000523079.1_Missense_Mutation_p.N100T|NRG1_ENST00000520407.1_Missense_Mutation_p.N315T|NRG1_ENST00000356819.4_Missense_Mutation_p.N100T|NRG1_ENST00000338921.4_Missense_Mutation_p.N100T|NRG1_ENST00000341377.5_Missense_Mutation_p.N100T|NRG1_ENST00000287845.5_Missense_Mutation_p.N100T|NRG1_ENST00000519301.1_Missense_Mutation_p.N79T|NRG1_ENST00000521670.1_Missense_Mutation_p.N100T			Q02297	NRG1_HUMAN	neuregulin 1	100	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTCGCATTAACAAAGCATCA	0.378																																																	0													174	158	164					8																	32463100		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.299A>C	8.37:g.32463100A>C	ENSP00000384620:p.Asn100Thr		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.N100T	ENST00000405005.3	37	c.299	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046072	0.08243	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.8	-4.65	0.03339	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.942027	0.09093	N	0.849541	T	0.47248	0.1435	N	0.16567	0.415	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B	0.23854	0.005;0.001;0.001;0.002;0.003;0.005;0.001;0.01;0.002;0.002;0.011;0.092	B;B;B;B;B;B;B;B;B;B;B;B	0.25884	0.007;0.004;0.008;0.011;0.015;0.011;0.004;0.016;0.006;0.015;0.019;0.064	T	0.34204	-0.9838	10	0.42905	T	0.14	-1.5477	11.4391	0.50086	0.4381:0.0938:0.4681:0.0	.	100;100;100;99;99;100;100;100;100;100;100;315	E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8;Q02297-9	.;.;.;.;.;.;.;NRG1_HUMAN;.;.;.;.	T	79;79;315;168;100;100;100;100;100;100;100;100;100	ENSP00000430053:N79T;ENSP00000429582:N79T;ENSP00000434640:N315T;ENSP00000429067:N168T;ENSP00000430120:N100T;ENSP00000343395:N100T;ENSP00000349275:N100T;ENSP00000287840:N100T;ENSP00000287845:N100T;ENSP00000340497:N100T;ENSP00000287842:N100T;ENSP00000384620:N100T;ENSP00000428828:N100T	ENSP00000287840:N100T	N	+	2	0	NRG1	32582642	0.865000	0.29922	0.036000	0.18154	0.060000	0.15804	0.052000	0.14163	-1.004000	0.03421	-1.162000	0.01777	AAC	NRG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000157168		0.378	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	51	0	A			32463100	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	54.84	14	17	SNP	0.004	C	C	32463100	A	C	32463100	3	2	79	1	0	0	0	0	1	0	0	0	10686	43	2	4	1060	4	NRG1	8	32463100	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	9307495	32463100	113900922	143	20799											
KCNU1	157855	genome.wustl.edu	37	chr8	36671732	36671732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctttggacaggtggaaaAttctggtgatccctggctca	8	13	11	9	0	3	1	1	1	2	0	5	3	4	3	1	5	0	1	1	5	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:36671732A>C	ENST00000399881.3	+	8	777	c.740A>C	c.(739-741)aAt>aCt	p.N247T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	247					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGGTGGAAAATTCTGGTGAT	0.368																																																	0													55	52	53					8																	36671732		1824	4077	5901	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.740A>C	8.37:g.36671732A>C	ENSP00000382770:p.Asn247Thr			Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.N247T	ENST00000399881.3	37	c.740	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	A	20.9	4.058956	0.76074	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	D;D	0.97529	-4.42;-4.42	5.0	5.0	0.66597	Ion transport (1);	0.000000	0.40222	U	0.001148	D	0.97120	0.9059	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97523	1.0074	10	0.54805	T	0.06	-5.1984	13.687	0.62522	1.0:0.0:0.0:0.0	.	247	A8MYU2	KCNU1_HUMAN	T	247	ENSP00000429951:N247T;ENSP00000382770:N247T	ENSP00000382770:N247T	N	+	2	0	KCNU1	36790890	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.512000	0.90538	1.874000	0.54306	0.383000	0.25322	AAT	KCNU1	-	pfam_2pore_dom_K_chnl_dom	ENSG00000215262		0.368	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0	75	0	A	NM_001031836		36671732	1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	missense	41.54	38	27	SNP	1.000	C	C	36671732	A	C	36671732	3	2	79	1	0	0	0	0	1	0	0	0	8120	101	4	4	770	4	KCNU1	8	36671732	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	4208632	36671732	109692290	144	20800											
PREX2	80243	genome.wustl.edu	37	chr8	69005845	69005845	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctcatttccagcaagaTtccatacaatgggtttataa	12	12	5	12	0	1	1	1	0	0	1	3	1	3	1	4	1	2	2	4	1	5	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:69005845T>G	ENST00000288368.4	+	21	2533	c.2256T>G	c.(2254-2256)gaT>gaG	p.D752E	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	752	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCCAGCAAGATTCCATACAAT	0.428																																																	0													105	106	105					8																	69005845		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2256T>G	8.37:g.69005845T>G	ENSP00000288368:p.Asp752Glu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D752E	ENST00000288368.4	37	c.2256	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461759	0.43736	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.35048	1.33	5.66	-0.843	0.10744	.	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	N	0.00347	-1.61	0.49582	D	0.999801	D;B;B	0.56287	0.975;0.081;0.036	P;B;B	0.53062	0.717;0.082;0.02	T	0.34378	-0.9831	10	0.51188	T	0.08	.	7.6414	0.28296	0.0:0.4266:0.1248:0.4486	.	752;752;752	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	E	752	ENSP00000288368:D752E	ENSP00000288368:D752E	D	+	3	2	PREX2	69168399	0.993000	0.37304	0.997000	0.53966	0.993000	0.82548	0.221000	0.17680	-0.136000	0.11475	-0.263000	0.10527	GAT	PREX2	-	NULL	ENSG00000046889		0.428	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	72	0	T	NM_025170		69005845	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	63.16	14	24	SNP	0.994	G	G	69005845	T	G	69005845	3	3	79	1	0	0	0	0	1	0	0	0	12519	1490	52	4	2338	4	PREX2	8	69005845	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	32334113	69005845	77358177	145	20801											
PREX2	80243	genome.wustl.edu	37	chr8	69031715	69031715	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcatgataaacaggacaAgatacatagttgccttgagc	15	10	8	8	0	1	3	1	2	1	1	2	4	1	4	1	1	4	1	1	1	5	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:69031715A>C	ENST00000288368.4	+	28	3747	c.3470A>C	c.(3469-3471)aAg>aCg	p.K1157T		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1157					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAACAGGACAAGATACATAGT	0.388																																																	0													204	184	191					8																	69031715		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3470A>C	8.37:g.69031715A>C	ENSP00000288368:p.Lys1157Thr		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K1157T	ENST00000288368.4	37	c.3470	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654955	0.88056	.	.	ENSG00000046889	ENST00000288368;ENST00000396539	T	0.40225	1.04	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.55337	0.1914	M	0.64404	1.975	0.80722	D	1	P	0.40398	0.716	P	0.50896	0.653	T	0.59096	-0.7518	10	0.87932	D	0	.	15.7056	0.77577	1.0:0.0:0.0:0.0	.	1157	Q70Z35	PREX2_HUMAN	T	1157;1163	ENSP00000288368:K1157T	ENSP00000288368:K1157T	K	+	2	0	PREX2	69194269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.726000	0.74758	2.178000	0.69098	0.528000	0.53228	AAG	PREX2	-	NULL	ENSG00000046889		0.388	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	37	0	A	NM_025170		69031715	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	69031715	A	C	69031715	3	2	79	1	0	0	0	0	1	0	0	0	12519	72	3	4	3809	4	PREX2	8	69031715	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	25870	69031715	77332307	146	20802											
KIAA1429	25962	genome.wustl.edu	37	chr8	95501071	95501071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctctagaagcacggtcccGaggacttgggcggtaacctg	9	7	13	12	3	1	1	0	0	1	1	2	3	2	2	3	4	2	2	3	4	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:95501071G>A	ENST00000297591.5	-	24	5377	c.5302C>T	c.(5302-5304)Cgg>Tgg	p.R1768W	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1768					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1768W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCACGGTCCCGAGGACTTGGG	0.468																																																	1	Substitution - Missense(1)	endometrium(1)											99	88	92					8																	95501071		2203	4300	6503	SO:0001583	missense	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5302C>T	8.37:g.95501071G>A	ENSP00000297591:p.Arg1768Trp		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1768W	ENST00000297591.5	37	c.5302	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829751	0.91036	.	.	ENSG00000164944	ENST00000297591	T	0.53206	0.63	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62859	-0.6765	10	0.87932	D	0	-10.9985	19.8632	0.96793	0.0:0.0:1.0:0.0	.	1768	Q69YN4	VIR_HUMAN	W	1768	ENSP00000297591:R1768W	ENSP00000297591:R1768W	R	-	1	2	KIAA1429	95570247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.802000	0.85969	2.699000	0.92147	0.655000	0.94253	CGG	KIAA1429	-	NULL	ENSG00000164944		0.468	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	-	0	22	0	G	NM_015496		95501071	-1	tier1	-	no_errors	ENST00000297591	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	A	A	95501071	G	A	95501071	3	1	79	1	0	0	0	0	1	0	0	0	8258	1057	37	1	140	1	KIAA1429	8	95501071	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	26469356	95501071	50862951	147	20803											
RIMS2	9699	genome.wustl.edu	37	chr8	104898284	104898284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgattctctcagttcagAccagtcagagtcagtgagac	12	10	10	9	0	5	4	4	2	1	3	6	6	5	4	1	0	0	1	1	0	1	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:104898284A>C	ENST00000436393.2	+	2	1032	c.791A>C	c.(790-792)gAc>gCc	p.D264A	RIMS2_ENST00000507740.1_Missense_Mutation_p.D294A|RIMS2_ENST00000406091.3_Missense_Mutation_p.D486A|RIMS2_ENST00000262231.10_Missense_Mutation_p.D294A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	517					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTCAGTTCAGACCAGTCAGAG	0.433										HNSCC(12;0.0054)																																							0													63	60	61					8																	104898284		2036	4186	6222	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.791A>C	8.37:g.104898284A>C	ENSP00000390665:p.Asp264Ala		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.D486A	ENST00000436393.2	37	c.1457		8	.	.	.	.	.	.	.	.	.	.	A	21.4	4.150898	0.78001	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.29142	1.87;2.35;1.75;1.71;1.58;1.74;2.1	5.54	5.54	0.83059	.	.	.	.	.	T	0.51907	0.1702	L	0.54323	1.7	0.80722	D	1	D;D;B;D;D	0.89917	1.0;0.986;0.363;0.977;1.0	D;D;B;P;D	0.91635	0.999;0.93;0.373;0.868;0.999	T	0.54043	-0.8352	9	0.87932	D	0	.	15.6758	0.77321	1.0:0.0:0.0:0.0	.	517;264;294;294;486	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	A	486;517;486;517;294;294;294;294;264	ENSP00000427018:D486A;ENSP00000384892:D486A;ENSP00000425205:D294A;ENSP00000262231:D294A;ENSP00000423559:D294A;ENSP00000386228:D294A;ENSP00000390665:D264A	ENSP00000262231:D294A	D	+	2	0	RIMS2	104967460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.293000	0.96082	2.099000	0.63709	0.460000	0.39030	GAC	RIMS2	-	NULL	ENSG00000176406		0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	30	0	A	NM_001100117		104898284	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	C	C	104898284	A	C	104898284	3	2	79	1	0	0	0	0	1	0	0	0	13413	275	10	4	1597	4	RIMS2	8	104898284	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	9397213	104898284	41465738	148	20804											
CSMD3	114788	genome.wustl.edu	37	chr8	113358340	113358340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acataccaaaacctatgggtAgatttattgtccatgtgcaa	14	12	7	8	0	0	1	0	0	0	1	1	1	1	1	3	1	3	2	3	1	7	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:113358340A>G	ENST00000297405.5	-	41	6672	c.6428T>C	c.(6427-6429)cTa>cCa	p.L2143P	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2039P|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2073P|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2103P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2143	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTATGGGTAGATTTATTGT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													104	108	107					8																	113358340		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6428T>C	8.37:g.113358340A>G	ENSP00000297405:p.Leu2143Pro		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L2143P	ENST00000297405.5	37	c.6428	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	18.09	3.547154	0.65311	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.39	5.39	0.77823	CUB (5);	0.000000	0.52532	D	0.000062	T	0.52041	0.1710	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.992;0.997	T	0.44559	-0.9320	10	0.30854	T	0.27	.	15.5781	0.76408	1.0:0.0:0.0:0.0	.	2039;2143;2103	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	2103;2143;1413;2039;2073	ENSP00000345799:L2103P;ENSP00000297405:L2143P;ENSP00000341558:L1413P;ENSP00000412263:L2039P;ENSP00000343124:L2073P	ENSP00000297405:L2143P	L	-	2	0	CSMD3	113427516	0.996000	0.38824	0.993000	0.49108	0.539000	0.34962	9.097000	0.94193	2.260000	0.74910	0.528000	0.53228	CTA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	46	0	A	NM_052900		113358340	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	38.78	30	19	SNP	1.000	G	G	113358340	A	G	113358340	3	3	79	1	0	0	0	0	1	0	0	0	3955	420	15	4	4819	4	CSMD3	8	113358340	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	8460056	113358340	33005682	149	20805											
FER1L6	654463	genome.wustl.edu	37	chr8	125033831	125033831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggatcattcagcagcaGaagaaaaagttatctgttga	16	9	11	5	0	3	3	2	1	1	2	3	4	3	4	0	2	2	4	0	2	5	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:125033831G>T	ENST00000522917.1	+	17	2261	c.2055G>T	c.(2053-2055)caG>caT	p.Q685H	FER1L6_ENST00000399018.1_Missense_Mutation_p.Q685H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	685						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCAGCAGCAGAAGAAAAAGT	0.433																																																	0													127	125	126					8																	125033831		1957	4157	6114	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2055G>T	8.37:g.125033831G>T	ENSP00000428280:p.Gln685His			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.Q685H	ENST00000522917.1	37	c.2055	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852498	0.51270	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81739	-1.53;-1.53	5.77	2.59	0.31030	.	0.181068	0.37809	U	0.001925	D	0.83603	0.5290	M	0.77103	2.36	0.39965	D	0.974719	D	0.71674	0.998	P	0.62089	0.898	T	0.80276	-0.1450	10	0.15066	T	0.55	.	4.9854	0.14187	0.252:0.1768:0.5712:0.0	.	685	Q2WGJ9	FR1L6_HUMAN	H	685	ENSP00000428280:Q685H;ENSP00000381982:Q685H	ENSP00000381982:Q685H	Q	+	3	2	FER1L6	125103012	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	1.537000	0.36083	0.777000	0.33496	0.591000	0.81541	CAG	FER1L6	-	NULL	ENSG00000214814		0.433	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	-	0	62	0	G	NM_001039112		125033831	1	tier1	-	no_errors	ENST00000399018	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	125033831	G	T	125033831	3	4	79	1	0	0	0	0	1	0	0	0	5837	933	33	3	2117	3	FER1L6	8	125033831	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	11675491	125033831	21330191	150	20806											
KCNQ3	3786	genome.wustl.edu	37	chr8	133187785	133187785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctgggacgtctttcTcaaccaggtagacaagaaat	12	9	8	12	1	3	2	1	0	3	2	4	3	3	3	3	2	1	1	3	2	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:133187785T>C	ENST00000388996.4	-	5	1268	c.848A>G	c.(847-849)gAg>gGg	p.E283G	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E283G|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E163G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	283					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GACGTCTTTCTCAACCAGGTA	0.488																																																	0													125	120	121					8																	133187785		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.848A>G	8.37:g.133187785T>C	ENSP00000373648:p.Glu283Gly		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E283G	ENST00000388996.4	37	c.848	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	T	28.1	4.889540	0.91889	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98649	-5.05;-5.05;-5.05	5.39	5.39	0.77823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99353	1.0915	10	0.66056	D	0.02	-29.8912	14.8797	0.70522	0.0:0.0:0.0:1.0	.	283;283	E7ET42;O43525	.;KCNQ3_HUMAN	G	283;163;283;272;162	ENSP00000373648:E283G;ENSP00000429799:E163G;ENSP00000428790:E283G	ENSP00000373648:E283G	E	-	2	0	KCNQ3	133256967	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.159000	0.67721	0.533000	0.62120	GAG	KCNQ3	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000184156		0.488	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	64	0	T	NM_004519		133187785	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	32.26	42	20	SNP	1.000	C	C	133187785	T	C	133187785	3	2	79	1	0	0	0	0	1	0	0	0	8111	1551	54	4	1814	4	KCNQ3	8	133187785	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	8153954	133187785	13176237	151	20807											
ADCK5	203054	genome.wustl.edu	37	chr8	145617857	145617857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacatcaacaccgtgcgcGctatcaacgtggccctcggc	9	6	10	16	5	2	0	2	0	0	0	3	0	2	0	2	2	4	2	2	2	4	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr8:145617857G>A	ENST00000308860.6	+	13	1509	c.1465G>A	c.(1465-1467)Gct>Act	p.A489T	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	489						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CACCGTGCGCGCTATCAACGT	0.697																																																	0													16	17	17					8																	145617857		2178	4292	6470	SO:0001583	missense	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1465G>A	8.37:g.145617857G>A	ENSP00000310547:p.Ala489Thr		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.A489T	ENST00000308860.6	37	c.1465	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	G	14.84	2.656684	0.47467	.	.	ENSG00000173137	ENST00000308860	T	0.75821	-0.97	5.05	0.376	0.16193	.	0.237530	0.41605	D	0.000848	T	0.71600	0.3359	M	0.68593	2.085	0.80722	D	1	P	0.41232	0.743	B	0.41412	0.356	T	0.71994	-0.4424	10	0.51188	T	0.08	-13.95	13.0452	0.58922	0.0:0.0:0.2573:0.7427	.	489	Q3MIX3	ADCK5_HUMAN	T	489	ENSP00000310547:A489T	ENSP00000310547:A489T	A	+	1	0	ADCK5	145588665	0.457000	0.25752	0.610000	0.28997	0.118000	0.20060	1.077000	0.30741	0.122000	0.18314	0.561000	0.74099	GCT	ADCK5	-	NULL	ENSG00000173137		0.697	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2		0	32	0	G	NM_174922		145617857	1			no_errors	ENST00000308860	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.972	A	A	145617857	G	A	145617857	3	1	79	1	0	0	0	0	1	0	0	0	291	1087	38	1	1515	1	ADCK5	8	145617857	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	12430072	145617857	746165	152	20808											
PTPRD	5789	genome.wustl.edu	37	chr9	8331729	8331729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccttactgttcgggacTggccgtcctttagaaggaaa	9	11	11	10	2	0	1	0	0	0	1	2	3	1	3	3	3	2	1	3	3	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:8331729T>C	ENST00000381196.4	-	41	5930	c.5387A>G	c.(5386-5388)cAg>cGg	p.Q1796R	PTPRD_ENST00000397606.3_Missense_Mutation_p.Q1389R|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q1796R|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q1386R|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q1390R|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q1389R|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q1796R|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q1389R|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q1774R|PTPRD_ENST00000537002.1_Missense_Mutation_p.Q1386R|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q1783R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1796	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTTCGGGACTGGCCGTCCTT	0.502										TSP Lung(15;0.13)																																							0													81	77	78					9																	8331729		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.5387A>G	9.37:g.8331729T>C	ENSP00000370593:p.Gln1796Arg		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1796R	ENST00000381196.4	37	c.5387	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	T	32	5.146895	0.94603	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.58	5.58	0.84498	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88078	0.6340	L	0.48174	1.505	0.58432	D	0.999996	P;P;P;P;B;P;P;D;B	0.58970	0.619;0.619;0.619;0.619;0.283;0.565;0.523;0.984;0.147	P;P;P;P;B;P;B;D;B	0.75484	0.844;0.844;0.844;0.844;0.213;0.758;0.35;0.986;0.211	D	0.87121	0.2191	9	.	.	.	.	16.0502	0.80755	0.0:0.0:0.0:1.0	.	1389;1380;1389;1390;1386;1386;1783;1796;1796	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	R	1796;1796;1783;1774;1390;1389;1386;1386;1267;1796;1389;1389	ENSP00000370593:Q1796R;ENSP00000348812:Q1796R;ENSP00000353187:Q1783R;ENSP00000351293:Q1774R;ENSP00000347373:Q1390R;ENSP00000380741:Q1389R;ENSP00000380735:Q1386R;ENSP00000440515:Q1386R;ENSP00000438164:Q1796R;ENSP00000417093:Q1389R;ENSP00000380731:Q1389R	.	Q	-	2	0	PTPRD	8321729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.983000	0.88140	2.250000	0.74265	0.454000	0.30748	CAG	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153707		0.502	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	46	0	T			8331729	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	59.38	13	19	SNP	1.000	C	C	8331729	T	C	8331729	3	2	79	1	0	0	0	0	1	0	0	0	12844	1580	55	4	363	4	PTPRD	9	8331729	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09		8331729	132881702	153	20809											
MPDZ	8777	genome.wustl.edu	37	chr9	13205984	13205984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttcccttgacatgagctCggcttcctgcttcattcctc	4	15	7	15	1	2	2	1	2	1	0	7	2	5	2	3	1	2	3	3	1	0	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:13205984C>T	ENST00000319217.7	-	11	1652	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	MPDZ_ENST00000381022.2_Missense_Mutation_p.E469K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E469K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E469K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E469K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E469K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E469K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	469					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)	p.E469*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GACATGAGCTCGGCTTCCTGC	0.428																																																	1	Substitution - Nonsense(1)	prostate(1)											186	178	181					9																	13205984		1935	4139	6074	SO:0001583	missense	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1405G>A	9.37:g.13205984C>T	ENSP00000320006:p.Glu469Lys		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E469K	ENST00000319217.7	37	c.1405		9	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151391	0.38021	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.11169	2.84;2.8;2.8;2.8;2.85;2.84;2.84	6.17	5.26	0.73747	.	0.157201	0.29676	N	0.011499	T	0.05090	0.0136	N	0.14661	0.345	0.38908	D	0.95747	B;P;P	0.36465	0.419;0.554;0.554	B;B;B	0.27887	0.038;0.058;0.084	T	0.46693	-0.9173	10	0.21540	T	0.41	.	9.0263	0.36232	0.1292:0.6342:0.2366:0.0	.	469;469;469	B7ZMI4;O75970-3;O75970-2	.;.;.	K	469	ENSP00000320006:E469K;ENSP00000439807:E469K;ENSP00000370410:E469K;ENSP00000444151:E469K;ENSP00000415208:E469K;ENSP00000370403:E469K;ENSP00000446358:E469K	ENSP00000320006:E469K	E	-	1	0	MPDZ	13195984	0.118000	0.22208	0.188000	0.23233	0.016000	0.09150	2.143000	0.42187	2.941000	0.99782	0.655000	0.94253	GAG	MPDZ	-	superfamily_PDZ	ENSG00000107186		0.428	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2		0	58	0	C	NM_003829		13205984	-1			no_errors	ENST00000319217	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.177	T	T	13205984	C	T	13205984	3	4	79	1	0	0	0	0	1	0	0	0	9760	893	31	1	4864	1	MPDZ	9	13205984	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	4874255	13205984	128007447	154	20810											
FREM1	158326	genome.wustl.edu	37	chr9	14846024	14846024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggacagcaccaatgtcgtCattgtcgacaacctgaaact	12	8	8	13	3	1	1	1	1	0	0	3	3	1	2	3	1	3	1	3	1	3	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:14846024C>T	ENST00000380880.3	-	8	2110	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	FREM1_ENST00000380881.4_Missense_Mutation_p.D444N|FREM1_ENST00000422223.2_Missense_Mutation_p.D443N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	443					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAATGTCGTCATTGTCGACA	0.488																																																	0													62	67	65					9																	14846024		2098	4234	6332	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1327G>A	9.37:g.14846024C>T	ENSP00000370262:p.Asp443Asn		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.D444N	ENST00000380880.3	37	c.1330	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051622	0.36181	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.51325	0.71;0.71;0.71	4.91	4.02	0.46733	.	0.142736	0.64402	D	0.000007	T	0.60418	0.2267	M	0.93106	3.38	0.47441	D	0.999425	B	0.22983	0.078	B	0.29524	0.103	T	0.65721	-0.6099	10	0.62326	D	0.03	-15.3493	13.7303	0.62783	0.0:0.9247:0.0:0.0753	.	443	Q5H8C1	FREM1_HUMAN	N	444;443;443	ENSP00000370263:D444N;ENSP00000412940:D443N;ENSP00000370262:D443N	ENSP00000370257:D446N	D	-	1	0	FREM1	14836024	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	5.699000	0.68310	1.201000	0.43203	-0.448000	0.05591	GAC	FREM1	-	NULL	ENSG00000164946		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	43	0	C	NM_144966		14846024	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	54.55	15	18	SNP	1.000	T	T	14846024	C	T	14846024	3	4	79	1	0	0	0	0	1	0	0	0	6068	826	29	3	5382	3	FREM1	9	14846024	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	1640040	14846024	126367407	155	20811											
B4GALT1	2683	genome.wustl.edu	37	chr9	33116035	33116035	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccagccccaataattatTaggaaatccattgatggtta	13	12	6	10	0	0	1	0	1	0	0	2	2	2	2	5	2	1	1	5	2	6	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:33116035T>G	ENST00000379731.4	-	4	1099	c.913A>C	c.(913-915)Aat>Cat	p.N305H	B4GALT1_ENST00000541851.1_Missense_Mutation_p.N52H|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	305					acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CAATAATTATTAGGAAATCCA	0.383																																																	0													99	91	94					9																	33116035		2203	4300	6503	SO:0001583	missense	0			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.913A>C	9.37:g.33116035T>G	ENSP00000369055:p.Asn305His		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.N305H	ENST00000379731.4	37	c.913	CCDS6535.1	9	.	.	.	.	.	.	.	.	.	.	T	21.8	4.199177	0.79015	.	.	ENSG00000086062	ENST00000379731;ENST00000541701;ENST00000541851	T;T	0.36340	1.26;1.26	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80362	-0.1414	10	0.87932	D	0	-15.629	14.2189	0.65812	0.0:0.0:0.0:1.0	.	305	P15291	B4GT1_HUMAN	H	305;262;52	ENSP00000369055:N305H;ENSP00000445037:N52H	ENSP00000369055:N305H	N	-	1	0	B4GALT1	33106035	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.996000	0.88334	2.240000	0.73641	0.533000	0.62120	AAT	B4GALT1	-	pfam_Galactosyl_T_C,prints_Galactosyl_T	ENSG00000086062		0.383	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT1	HGNC	protein_coding	OTTHUMT00000052039.1	-	0	112	0	T	NM_001497		33116035	-1	tier1	-	no_errors	ENST00000379731	ensembl	human	known	74_37	missense	18.18	63	14	SNP	1.000	G	G	33116035	T	G	33116035	3	3	79	1	0	0	0	0	1	0	0	0	1271	1754	61	4	295	4	B4GALT1	9	33116035	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	18270011	33116035	108097396	156	20812											
NFX1	4799	genome.wustl.edu	37	chr9	33364102	33364102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatagtttgaaagaagatGccaggtatgtaacttgttac	13	13	11	4	0	0	4	0	2	0	2	0	4	0	4	1	1	3	4	1	1	6	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:33364102G>A	ENST00000379540.3	+	20	3030	c.2968G>A	c.(2968-2970)Gcc>Acc	p.A990T	NFX1_ENST00000379521.4_Missense_Mutation_p.A990T	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	990					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GAAAGAAGATGCCAGGTATGT	0.378																																																	0													145	128	134					9																	33364102		2203	4300	6503	SO:0001583	missense	0			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2968G>A	9.37:g.33364102G>A	ENSP00000368856:p.Ala990Thr		A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.A990T	ENST00000379540.3	37	c.2968	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.223310	0.95139	.	.	ENSG00000086102	ENST00000379540;ENST00000379521	T;T	0.45276	0.9;1.84	6.08	6.08	0.98989	Single-stranded nucleic acid binding R3H (1);	0.164693	0.53938	D	0.000056	T	0.70631	0.3246	M	0.89095	3.005	0.80722	D	1	D;D	0.76494	0.992;0.999	P;D	0.73708	0.818;0.981	T	0.71721	-0.4507	10	0.44086	T	0.13	-0.3376	18.1659	0.89727	0.0:0.0:1.0:0.0	.	990;990	Q12986;Q12986-2	NFX1_HUMAN;.	T	990	ENSP00000368856:A990T;ENSP00000368836:A990T	ENSP00000368836:A990T	A	+	1	0	NFX1	33354102	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.936000	0.87665	2.894000	0.99253	0.591000	0.81541	GCC	NFX1	-	smart_R3H_ss-bd	ENSG00000086102		0.378	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	-	0	47	0	G			33364102	1	tier1	-	no_errors	ENST00000379540	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	A	A	33364102	G	A	33364102	3	1	79	1	0	0	0	0	1	0	0	0	10426	1319	46	3	3128	3	NFX1	9	33364102	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	248067	33364102	107849329	157	20813											
TRPM3	80036	genome.wustl.edu	37	chr9	73206023	73206023	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttggccagtttccaTgatggctcctcattgggaaa	8	14	10	9	0	2	1	1	1	1	0	4	2	4	2	3	3	0	3	3	3	1	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:73206023T>C	ENST00000377111.2	-	21	3354	c.3111A>G	c.(3109-3111)tcA>tcG	p.S1037S	TRPM3_ENST00000396285.1_Silent_p.S884S|TRPM3_ENST00000396292.4_Silent_p.S909S|TRPM3_ENST00000358082.3_Silent_p.S899S|TRPM3_ENST00000360823.2_Silent_p.S899S|TRPM3_ENST00000423814.3_Silent_p.S1064S|TRPM3_ENST00000408909.2_Silent_p.S896S|TRPM3_ENST00000377106.1_Silent_p.S909S|TRPM3_ENST00000377105.1_Silent_p.S896S|TRPM3_ENST00000357533.2_Silent_p.S1041S|TRPM3_ENST00000377110.3_Silent_p.S1037S|TRPM3_ENST00000396280.5_Silent_p.S886S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1062					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAGTTTCCATGATGGCTCCT	0.443																																																	0													157	140	146					9																	73206023		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3111A>G	9.37:g.73206023T>C			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	pfam_Ion_trans_dom	p.S1064	ENST00000377111.2	37	c.3192		9	.	.	.	.	.	.	.	.	.	.	T	7.157	0.584906	0.13749	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.77	-1.76	0.08006	.	.	.	.	.	T	0.41789	0.1174	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30504	-0.9976	4	.	.	.	-9.2674	2.7561	0.05293	0.1107:0.2225:0.1083:0.5585	.	.	.	.	V	886	.	.	M	-	1	0	TRPM3	72395843	0.837000	0.29446	0.997000	0.53966	0.998000	0.95712	-0.187000	0.09656	-0.164000	0.10927	0.519000	0.50382	ATG	TRPM3	-	pfam_Ion_trans_dom	ENSG00000083067		0.443	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	-	0	49	0	T	NM_206945		73206023	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.990	C	C	73206023	T	C	73206023	2	2	79	1	0	0	0	0	0	0	0	1	16635	1451	51	4		4	TRPM3	9	73206023	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	39841921	73206023	68007408	158	20814											
ALDH1A1	216	genome.wustl.edu	37	chr9	75526890	75526890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctcctctttggcaatgCgcatctcatctgtaacatta	9	15	5	12	1	3	0	1	0	3	0	5	0	4	0	2	1	3	3	2	1	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:75526890C>T	ENST00000297785.3	-	10	1238	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	395					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTTGGCAATGCGCATCTCATC	0.438																																																	0													148	126	133					9																	75526890		2203	4300	6503	SO:0001583	missense	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1184G>A	9.37:g.75526890C>T	ENSP00000297785:p.Arg395His		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.R395H	ENST00000297785.3	37	c.1184	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618039	0.87359	.	.	ENSG00000165092	ENST00000297785	T	0.78126	-1.15	5.91	5.91	0.95273	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.071288	0.64402	D	0.000014	D	0.89047	0.6604	M	0.90145	3.09	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61275	0.886;0.797	D	0.90613	0.4553	10	0.72032	D	0.01	.	15.8535	0.78956	0.1362:0.8638:0.0:0.0	.	316;395	B4DDF8;P00352	.;AL1A1_HUMAN	H	395	ENSP00000297785:R395H	ENSP00000297785:R395H	R	-	2	0	ALDH1A1	74716710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.915000	0.48805	2.813000	0.96785	0.655000	0.94253	CGC	ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.438	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1		0	55	0	C			75526890	-1			no_errors	ENST00000297785	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	75526890	C	T	75526890	3	4	79	1	0	0	0	0	1	0	0	0	490	768	27	1	337	1	ALDH1A1	9	75526890	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	2320867	75526890	65686541	159	20815											
FGD3	89846	genome.wustl.edu	37	chr9	95772661	95772661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccccagaccggaaggatgCggagagtgagctggggccaa	10	3	17	11	3	0	3	0	1	0	2	0	6	0	5	4	5	2	1	4	5	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:95772661C>T	ENST00000375482.3	+	7	1467	c.971C>T	c.(970-972)gCg>gTg	p.A324V	FGD3_ENST00000416701.2_Missense_Mutation_p.A324V|FGD3_ENST00000337352.6_Missense_Mutation_p.A324V	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	324	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGAAGGATGCGGAGAGTGAG	0.657																																																	0													16	19	18					9																	95772661		1969	4158	6127	SO:0001583	missense	0			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16027	protein-coding gene	gene with protein product			"FGD1 family, member 3"			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.971C>T	9.37:g.95772661C>T	ENSP00000364631:p.Ala324Val		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A324V	ENST00000375482.3	37	c.971	CCDS43849.1	9	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722708	0.68959	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.61980	0.06;0.06;0.06	4.29	4.29	0.51040	Dbl homology (DH) domain (5);	0.000000	0.37857	N	0.001905	T	0.76371	0.3978	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.983;0.988;0.99	T	0.79785	-0.1657	10	0.87932	D	0	.	16.2015	0.82084	0.0:1.0:0.0:0.0	.	324;324;324	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	V	324	ENSP00000364631:A324V;ENSP00000413833:A324V;ENSP00000336914:A324V	ENSP00000336914:A324V	A	+	2	0	FGD3	94812482	1.000000	0.71417	0.924000	0.36721	0.014000	0.08584	7.407000	0.80029	2.332000	0.79248	0.561000	0.74099	GCG	FGD3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000127084		0.657	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1		0	43	0	C	NM_033086		95772661	1			no_errors	ENST00000337352	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	95772661	C	T	95772661	3	4	79	1	0	0	0	0	1	0	0	0	5856	768	27	1	989	1	FGD3	9	95772661	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	20245771	95772661	45440770	160	20816											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100071871	100071871	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacgactggatcatggaaaAccctgttctccacaggtagg	12	8	10	11	1	2	0	1	0	1	0	3	3	2	2	2	4	2	2	2	4	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:100071871A>C	ENST00000357054.1	+	17	1729	c.794A>C	c.(793-795)aAc>aCc	p.N265T	CCDC180_ENST00000529487.1_Missense_Mutation_p.N126T|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.N126T|CCDC180_ENST00000395220.1_Missense_Mutation_p.N265T|CCDC180_ENST00000411667.2_Missense_Mutation_p.N126T|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	265						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATCATGGAAAACCCTGTTCTC	0.527																																																	0													87	66	73					9																	100071871		2203	4300	6503	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.794A>C	9.37:g.100071871A>C	ENSP00000349562:p.Asn265Thr		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.N126T	ENST00000357054.1	37	c.377		9	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900659	0.33535	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.26660	2.46;1.72;2.42;2.11;2.42	4.71	4.71	0.59529	.	0.000000	0.41823	D	0.000807	T	0.48429	0.1499	M	0.73598	2.24	0.34540	D	0.710184	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.62946	-0.6746	10	0.49607	T	0.09	-24.4691	10.8908	0.46994	1.0:0.0:0.0:0.0	.	126;265;126;265	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	T	265;265;126;126;149;126	ENSP00000349562:N265T;ENSP00000378646:N265T;ENSP00000364348:N126T;ENSP00000414000:N126T;ENSP00000434727:N126T	ENSP00000349562:N265T	N	+	2	0	C9orf174	99111692	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	5.050000	0.64251	1.902000	0.55061	0.459000	0.35465	AAC	CCDC180	-	NULL	ENSG00000197816		0.527	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0	57	0	A	NM_020893		100071871	1	tier1	-	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	C	C	100071871	A	C	100071871	3	2	79	1	0	0	0	0	1	0	0	0	8267	43	2	4	816	4	KIAA1529	9	100071871	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	4299210	100071871	41141560	161	20817											
OR13C3	138803	genome.wustl.edu	37	chr9	107298746	107298746	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtttcttttctttgAgattaagctcaccaatgttg	10	17	8	6	0	3	1	1	1	2	1	3	3	3	2	1	1	1	3	1	1	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:107298746A>G	ENST00000374781.2	-	1	391	c.349T>C	c.(349-351)Tca>Cca	p.S117P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTTTCTTTGAGATTAAGCTC	0.433																																					GBM(86;1248 1274 14222 15028 46219)												0													168	145	153					9																	107298746		2203	4300	6503	SO:0001583	missense	0				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"GPCR / Class A : Olfactory receptors"	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.349T>C	9.37:g.107298746A>G	ENSP00000363913:p.Ser117Pro		Q5VVG1|Q6IF52	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S117P	ENST00000374781.2	37	c.349	CCDS35089.1	9	.	.	.	.	.	.	.	.	.	.	A	13.34	2.207923	0.39003	.	.	ENSG00000204246	ENST00000374781	T	0.01347	4.99	4.81	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39083	N	0.001463	T	0.05456	0.0144	M	0.84683	2.71	0.09310	N	1	D	0.60160	0.987	P	0.52710	0.707	T	0.15723	-1.0427	10	0.72032	D	0.01	.	8.8416	0.35146	0.8104:0.1896:0.0:0.0	.	117	Q8NGS6	O13C3_HUMAN	P	117	ENSP00000363913:S117P	ENSP00000363913:S117P	S	-	1	0	OR13C3	106338567	0.000000	0.05858	0.994000	0.49952	0.456000	0.32438	0.087000	0.14958	2.148000	0.66965	0.533000	0.62120	TCA	OR13C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204246		0.433	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C3	HGNC	protein_coding	OTTHUMT00000053477.2	-	0	70	0	A			107298746	-1	tier1	-	no_errors	ENST00000374781	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.224	G	G	107298746	A	G	107298746	3	3	79	1	0	0	0	0	1	0	0	0	10974	304	11	4	698	4	OR13C3	9	107298746	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	7226875	107298746	33914685	162	20818											
OR13D1	286365	genome.wustl.edu	37	chr9	107456708	107456708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgaaaatttgtagatgtaCagatttacagattttgatgt	14	17	8	2	0	0	5	0	2	0	3	0	5	0	5	0	0	2	2	0	0	5	8			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:107456708C>T	ENST00000318763.5	+	1	49	c.6C>T	c.(4-6)taC>taT	p.Y2Y		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGTAGATGTACAGATTTACAG	0.328																																																	0													47	44	45					9																	107456708		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"GPCR / Class A : Olfactory receptors"	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.6C>T	9.37:g.107456708C>T			B9EIS1|Q6IFL1	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y2	ENST00000318763.5	37	c.6	CCDS35094.1	9																																																																																			OR13D1	-	NULL	ENSG00000179055		0.328	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	HGNC	protein_coding	OTTHUMT00000053483.1		0	60	0	C			107456708	1			no_errors	ENST00000318763	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.000	T	T	107456708	C	T	107456708	2	4	79	1	0	0	0	0	0	0	0	1	10979	489	17	3		3	OR13D1	9	107456708	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	157962	107456708	33756723	163	20819											
ACTL7A	10881	genome.wustl.edu	37	chr9	111624721	111624721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggatggcccggcgaagcGggccgtgtgggtccgccata	7	5	18	11	5	0	0	0	0	0	0	1	2	1	1	4	5	1	0	4	5	3	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:111624721G>A	ENST00000333999.3	+	1	119	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	40	Required for interaction with TES.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGGCGAAGCGGGCCGTGTGG	0.617																																					Esophageal Squamous(177;1480 3591 17554)												0													42	46	45					9																	111624721		2203	4300	6503	SO:0001583	missense	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.119G>A	9.37:g.111624721G>A	ENSP00000334300:p.Arg40Gln		B2RC83|Q5JSV0	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R40Q	ENST00000333999.3	37	c.119	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	G	12.04	1.820007	0.32145	.	.	ENSG00000187003	ENST00000333999	D	0.94613	-3.47	5.62	4.54	0.55810	.	1.219030	0.06376	N	0.714307	D	0.88265	0.6390	N	0.08118	0	0.29206	N	0.874894	D	0.58268	0.982	B	0.42087	0.375	T	0.81611	-0.0854	10	0.46703	T	0.11	.	10.3024	0.43661	0.1035:0.0:0.8965:0.0	.	40	Q9Y615	ACL7A_HUMAN	Q	40	ENSP00000334300:R40Q	ENSP00000334300:R40Q	R	+	2	0	ACTL7A	110664542	0.998000	0.40836	0.998000	0.56505	0.669000	0.39330	0.564000	0.23563	2.643000	0.89663	0.655000	0.94253	CGG	ACTL7A	-	NULL	ENSG00000187003		0.617	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	-	0	64	0	G	NM_006687		111624721	1	tier1	-	no_errors	ENST00000333999	ensembl	human	known	74_37	missense	27.91	30	12	SNP	0.981	A	A	111624721	G	A	111624721	3	1	79	1	0	0	0	0	1	0	0	0	200	1116	39	1	121	1	ACTL7A	9	111624721	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	4168013	111624721	29588710	164	20820											
CRAT	1384	genome.wustl.edu	37	chr9	131860909	131860909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcaccaggggagacCgcacaagctcgggtttcttc	8	6	15	12	2	1	1	0	0	1	1	3	2	1	1	2	5	1	5	2	5	1	2	rs527857954		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:131860909C>T	ENST00000318080.2	-	9	1400	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	369					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGGGGAGACCGCACAAGCTC	0.607													C|||	1	0.000199681	0	0	5008	,	,		16667	0		0	False		,,,				2504	0.001																0													124	109	114					9																	131860909		2203	4300	6503	SO:0001583	missense	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1106G>A	9.37:g.131860909C>T	ENSP00000315013:p.Arg369Gln		Q5T952|Q9BW16	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.R369Q	ENST00000318080.2	37	c.1106	CCDS6919.1	9	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332541	0.41297	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	T	0.42513	0.97	5.13	4.2	0.49525	.	0.056122	0.64402	D	0.000002	T	0.26666	0.0652	L	0.28192	0.835	0.53005	D	0.999969	B	0.20459	0.045	B	0.08055	0.003	T	0.06267	-1.0836	10	0.17832	T	0.49	-40.4196	9.9537	0.41653	0.0:0.7815:0.1408:0.0776	.	369	P43155	CACP_HUMAN	Q	288;369	ENSP00000315013:R369Q	ENSP00000315013:R369Q	R	-	2	0	CRAT	130900730	0.020000	0.18652	0.829000	0.32907	0.782000	0.44232	1.726000	0.38085	1.331000	0.45412	0.561000	0.74099	CGG	CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	-	0	35	0	C			131860909	-1	tier1	-	no_errors	ENST00000318080	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.740	T	T	131860909	C	T	131860909	3	4	79	1	0	0	0	0	1	0	0	0	3854	652	23	1	798	1	CRAT	9	131860909	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	20236188	131860909	9352522	165	20821											
USP20	10868	genome.wustl.edu	37	chr9	132637912	132637912	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacgtctgggagcacctGtacaacaggtgagagcctgg	11	6	14	10	1	1	2	0	1	1	2	1	4	1	3	2	3	5	2	2	3	3	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr9:132637912G>T	ENST00000315480.4	+	21	2450	c.2292G>T	c.(2290-2292)ctG>ctT	p.L764L	USP20_ENST00000372429.3_Silent_p.L764L|USP20_ENST00000358355.1_Silent_p.L764L			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	764	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGAGCACCTGTACAACAGGT	0.612																																																	0													74	77	76					9																	132637912		2031	4184	6215	SO:0001819	synonymous_variant	0			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"Ubiquitin-specific peptidases"	12619	protein-coding gene	gene with protein product		615143	"ubiquitin specific protease 20"			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2292G>T	9.37:g.132637912G>T			Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L764	ENST00000315480.4	37	c.2292	CCDS43892.1	9																																																																																			USP20	-	smart_Pept_C19_DUSP	ENSG00000136878		0.612	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2		0	54	0	G			132637912	1			no_errors	ENST00000315480	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.959	T	T	132637912	G	T	132637912	2	4	79	1	0	0	0	0	0	0	0	1	17101	1364	48	3		3	USP20	9	132637912	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	777003	132637912	8575519	166	20822											
TRDMT1	1787	genome.wustl.edu	37	chr10	17210898	17210898	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaaagataatctgtcaaActcttcgagtgtaatgccct	14	12	6	9	1	4	1	2	0	2	1	5	2	4	1	1	0	2	1	1	0	5	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:17210898A>C	ENST00000377799.3	-	3	240	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000457442.2_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000412821.3_Missense_Mutation_p.F65V|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Missense_Mutation_p.F65V	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	65	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|response to amphetamine (GO:0001975)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|tRNA methyltransferase activity (GO:0008175)			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18					Pentamidine(DB00738)	AATCTGTCAAACTCTTCGAGT	0.358																																																	0													68	67	67					10																	17210898		2203	4300	6503	SO:0001583	missense	0			AJ223333	CCDS7114.1	10p15.1	2006-10-23	2006-10-23	2006-10-23	ENSG00000107614	ENSG00000107614	2.1.1.37		2977	protein-coding gene	gene with protein product		602478	"DNA (cytosine-5-)-methyltransferase 2"	DNMT2		9425235, 9763678, 16424344	Standard	NM_004412		Approved	RNMT1	uc001iop.3	O14717	OTTHUMG00000017745	ENST00000377799.3:c.193T>G	10.37:g.17210898A>C	ENSP00000367030:p.Phe65Val		B0YJ02|B0YJ03|B0YJ07|B0YJ08|O43669|Q86WW6	Missense_Mutation	SNP	pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase	p.F65V	ENST00000377799.3	37	c.193	CCDS7114.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.32|15.32	2.797980|2.797980	0.50208|0.50208	.|.	.|.	ENSG00000107614|ENSG00000107614	ENST00000377799;ENST00000412821;ENST00000351358;ENST00000525762|ENST00000313936	D;D;D;D|.	0.85171|.	-1.95;-1.95;-1.95;-1.95|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.043340|.	0.85682|.	D|.	0.000000|.	T|T	0.54679|0.54679	0.1873|0.1873	L|L	0.38531|0.38531	1.155|1.155	0.80722|0.80722	D|D	1|1	P;B;B|.	0.47604|.	0.898;0.137;0.038|.	B;B;B|.	0.43658|.	0.426;0.309;0.306|.	T|T	0.52873|0.52873	-0.8517|-0.8517	10|5	0.21014|.	T|.	0.42|.	-29.2127|-29.2127	10.4455|10.4455	0.44490|0.44490	0.9272:0.0:0.0728:0.0|0.9272:0.0:0.0728:0.0	.|.	65;65;65|.	O14717-3;O14717-2;O14717|.	.;.;TRDMT_HUMAN|.	V|G	65;65;65;47|44	ENSP00000367030:F65V;ENSP00000409354:F65V;ENSP00000324328:F65V;ENSP00000431476:F47V|.	ENSP00000324328:F65V|.	F|V	-|-	1|2	0|0	TRDMT1|TRDMT1	17250904|17250904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	5.915000|5.915000	0.69973|0.69973	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	TTT|GTT	TRDMT1	-	pfam_C5_MeTfrase,tigrfam_C5_MeTfrase	ENSG00000107614		0.358	TRDMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRDMT1	HGNC	protein_coding	OTTHUMT00000047024.3	-	0	42	0	A	NM_004412		17210898	-1	tier1	-	no_errors	ENST00000377799	ensembl	human	known	74_37	missense	50.00	21	21	SNP	1.000	C	C	17210898	A	C	17210898	3	2	79	1	0	0	0	0	1	0	0	0	16515	43	2	4	1018	4	TRDMT1	10	17210898	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09		17210898	118323849	167	20823											
C10orf71	118461	genome.wustl.edu	37	chr10	50530604	50530604	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacagatgatgcaaggaaAtaagaagtgcacagacgcgt	17	5	11	8	2	0	4	0	1	0	3	0	5	0	5	1	1	3	2	1	1	5	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:50530604A>C	ENST00000374144.3	+	3	302	c.14A>C	c.(13-15)aAt>aCt	p.N5T	C10orf71_ENST00000323868.4_Missense_Mutation_p.N5T			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	5										endometrium(1)	1						ATGCAAGGAAATAAGAAGTGC	0.547																																																	0													36	37	37					10																	50530604		2126	4241	6367	SO:0001583	missense	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.14A>C	10.37:g.50530604A>C	ENSP00000363259:p.Asn5Thr		A0AVL8	Missense_Mutation	SNP	NULL	p.N5T	ENST00000374144.3	37	c.14	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	A	13.15	2.152194	0.38021	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.18810	2.19;3.32	5.13	1.42	0.22433	.	0.111112	0.39544	N	0.001340	T	0.28632	0.0709	L	0.53249	1.67	0.30329	N	0.786859	D	0.58620	0.983	P	0.54544	0.755	T	0.15723	-1.0427	10	0.72032	D	0.01	.	7.8863	0.29653	0.7492:0.0:0.2508:0.0	.	5	Q711Q0-3	.	T	5	ENSP00000318713:N5T;ENSP00000363259:N5T	ENSP00000318713:N5T	N	+	2	0	C10orf71	50200610	1.000000	0.71417	0.931000	0.37212	0.701000	0.40568	2.794000	0.47853	0.297000	0.22615	0.455000	0.32223	AAT	C10orf71	-	NULL	ENSG00000177354		0.547	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	-	0	48	0	A	NM_199459		50530604	1	tier1	-	no_errors	ENST00000374144	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.983	C	C	50530604	A	C	50530604	3	2	79	1	0	0	0	0	1	0	0	0	1619	101	4	4	16	4	C10orf71	10	50530604	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	33319706	50530604	85004143	168	20824											
ARID5B	84159	genome.wustl.edu	37	chr10	63816992	63816992	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagtgcagggcagatgaAcaagccttcttggtggcact	11	8	14	8	0	1	3	0	1	1	2	1	4	1	3	1	3	3	3	1	3	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:63816992A>G	ENST00000279873.7	+	6	1373	c.963A>G	c.(961-963)gaA>gaG	p.E321E	ARID5B_ENST00000309334.5_Silent_p.E78E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	321	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGGCAGATGAACAAGCCTTCT	0.393																																																	0													116	123	120					10																	63816992		2203	4300	6503	SO:0001819	synonymous_variant	0			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"-"	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.963A>G	10.37:g.63816992A>G			B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E321	ENST00000279873.7	37	c.963	CCDS31208.1	10																																																																																			ARID5B	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000150347		0.393	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1		0	55	0	A	XM_084482		63816992	1			no_errors	ENST00000279873	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.999	G	G	63816992	A	G	63816992	2	3	79	1	0	0	0	0	0	0	0	1	922	40	2	4		4	ARID5B	10	63816992	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	13286388	63816992	71717755	169	20825											
MYST4	23522	genome.wustl.edu	37	chr10	76790462	76790462	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcctgcacggactttaacGatgcaaagaggcatgaacat	13	8	11	9	2	0	2	0	1	0	1	1	4	1	3	1	3	4	3	1	3	3	2	rs200498444		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:76790462G>A	ENST00000287239.4	+	18	6369	c.5880G>A	c.(5878-5880)acG>acA	p.T1960T	KAT6B_ENST00000372711.1_Silent_p.T1777T|KAT6B_ENST00000372724.1_Silent_p.T1668T|KAT6B_ENST00000372714.1_Silent_p.T1668T|KAT6B_ENST00000372725.1_Silent_p.T1668T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1960	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGACTTTAACGATGCAAAGAG	0.527																																																	0													147	139	142					10																	76790462		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5880G>A	10.37:g.76790462G>A			O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.T1960	ENST00000287239.4	37	c.5880	CCDS7345.1	10																																																																																			KAT6B	-	NULL	ENSG00000156650		0.527	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	-	0	36	0	G	NM_012330		76790462	1	tier1	rs200498444	no_errors	ENST00000287239	ensembl	human	known	74_37	silent	41.67	21	15	SNP	0.131	A	A	76790462	G	A	76790462	2	1	79	1	0	0	0	0	0	0	0	1	10143	1045	37	1		1	MYST4	10	76790462	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	12973470	76790462	58744285	170	20826											
MAT1A	4143	genome.wustl.edu	37	chr10	82036155	82036155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctccgatgacaaaccGcccactgggctgcaggtggt	8	6	14	13	2	0	1	0	1	0	0	1	3	1	2	4	4	2	2	4	4	1	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:82036155G>A	ENST00000372213.3	-	6	1005	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	249					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ATGACAAACCGCCCACTGGGC	0.577																																																	0			GRCh37	CM055977	MAT1A	M							90	85	87					10																	82036155		2203	4300	6503	SO:0001583	missense	0				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.745C>T	10.37:g.82036155G>A	ENSP00000361287:p.Arg249Trp		D3DWD5|Q5QP09	Missense_Mutation	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.R249W	ENST00000372213.3	37	c.745	CCDS7365.1	10	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722770	0.89298	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.84298	-1.83	4.84	4.84	0.62591	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.099413	0.64402	D	0.000001	D	0.93314	0.7869	H	0.97732	4.065	0.80722	D	1	D	0.67145	0.996	P	0.52793	0.709	D	0.95434	0.8519	10	0.87932	D	0	-35.2808	15.8349	0.78791	0.0:0.0:1.0:0.0	.	249	Q00266	METK1_HUMAN	W	249	ENSP00000361287:R249W	ENSP00000361280:R249W	R	-	1	2	MAT1A	82026135	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	7.435000	0.80391	2.677000	0.91161	0.655000	0.94253	CGG	MAT1A	-	pfam_S-AdoMet_synt_central,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	ENSG00000151224		0.577	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT1A	HGNC	protein_coding	OTTHUMT00000049070.1	-	0	36	0	G	NM_000429		82036155	-1	tier1	-	no_errors	ENST00000372213	ensembl	human	known	74_37	missense	86.36	3	19	SNP	1.000	A	A	82036155	G	A	82036155	3	1	79	1	0	0	0	0	1	0	0	0	9367	1086	38	1	458	1	MAT1A	10	82036155	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	5245693	82036155	53498592	171	20827											
C10orf129	142827	genome.wustl.edu	37	chr10	96971633	96971633	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctttcctctttctctttAgacggtggatggatctccag	5	16	10	10	1	3	1	0	0	3	1	6	3	4	3	2	4	0	1	2	4	1	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:96971633A>T	ENST00000394005.3	+	5	764		c.e5-1		C10orf129_ENST00000341686.3_Splice_Site|C10orf129_ENST00000430183.1_Splice_Site			Q6P461	ACSM6_HUMAN							fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTTTCTCTTTAGACGGTGGAT	0.468																																																	0													111	99	103					10																	96971633		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000394005.3:c.756-1A>T	10.37:g.96971633A>T			A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Splice_Site	SNP	-	e5-2	ENST00000394005.3	37	c.756-2	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158077	0.38119	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000430183;ENST00000394005	.	.	.	1.84	1.84	0.25277	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7666	0.28982	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf129	96961623	0.993000	0.37304	0.100000	0.21137	0.331000	0.28603	3.867000	0.56047	0.832000	0.34804	0.372000	0.22366	.	C10orf129	-	-	ENSG00000173124		0.468	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	HGNC	protein_coding	OTTHUMT00000049506.2	-	0	59	0	A		Intron	96971633	1	tier1	-	no_errors	ENST00000341686	ensembl	human	known	74_37	splice_site	19.05	34	8	SNP	0.965	T	T	96971633	A	T	96971633	5	4	79	1	0	0	0	0	0	0	1	0	1598	434	15	5	772	5	C10orf129	10	96971633	Splice_Site	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	14935478	96971633	38563114	172	20828											
PIK3AP1	118788	genome.wustl.edu	37	chr10	98408575	98408575	+	Frame_Shift_Del	DEL	A	A	-																															ttcagtccatacttcgcagcAaaatgcaacagggtgggcag																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:98408575delA	ENST00000339364.5	-	7	1145	c.1026delT	c.(1024-1026)tttfs	p.F342fs	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Frame_Shift_Del_p.F164fs	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	342					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTTCGCAGCAAAATGCAACA	0.507																																																	0													100	87	91					10																	98408575		2203	4300	6503	SO:0001589	frameshift_variant	0			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1026delT	10.37:g.98408575delA	ENSP00000339826:p.Phe342fs		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Frame_Shift_Del	DEL	superfamily_Ankyrin_rpt-contain_dom	p.F342fs	ENST00000339364.5	37	c.1026	CCDS31259.1	10																																																																																			PIK3AP1	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000155629		0.507	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2		0	65	0	A	NM_152309		98408575	-1	tier1		no_errors	ENST00000339364	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-	-	98408575	A	-	98408575	7	5	79	1	0	1	0	1	0	0	0	0	11947	127	5	0	1435	0	PIK3AP1	10	98408575	Frame_Shift_Del	DEL	A	TCGA-L5-A8NE-01A-11D-A37C-09	1436942	98408575	37126172	173	20829											
TLX1NB	100038246	genome.wustl.edu	37	chr10	102849446	102849446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtttgtttagagggtGgggcggggaacctggtgtca	5	13	17	6	1	2	1	1	0	1	1	2	2	2	2	1	6	1	2	1	6	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:102849446G>T	ENST00000445873.1	-	3	1493	c.217C>A	c.(217-219)Cac>Aac	p.H73N	TLX1NB_ENST00000425505.1_5'Flank	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	73																	TTTAGAGGGTGGGGCGGGGAA	0.602																																																	0													25	25	25					10																	102849446		1852	4079	5931	SO:0001583	missense	0			BC019674	CCDS60615.1	10q24	2014-04-01			ENSG00000236311	ENSG00000236311			37183	protein-coding gene	gene with protein product		612734				17303350	Standard	NM_001085398		Approved	TD1, TDI, APT-B7	uc001ksv.3	P0CAT3	OTTHUMG00000018925	ENST00000445873.1:c.217C>A	10.37:g.102849446G>T	ENSP00000475001:p.His73Asn			Missense_Mutation	SNP	NULL	p.H73N	ENST00000445873.1	37	c.217		10																																																																																			TLX1NB	-	NULL	ENSG00000236311		0.602	TLX1NB-001	NOVEL	basic|appris_principal	protein_coding	TLX1NB	HGNC	protein_coding	OTTHUMT00000049925.2	-	0	47	0	G	NM_001085398		102849446	-1	tier1	-	no_errors	ENST00000445873	ensembl	human	novel	74_37	missense	11.11	32	4	SNP	0.001	T	T	102849446	G	T	102849446	3	4	79	1	0	0	0	0	1	0	0	0	16007	1348	47	3	155	3	TLX1NB	10	102849446	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	4440871	102849446	32685301	174	20830											
CNNM2	54805	genome.wustl.edu	37	chr10	104828465	104828465	+	Frame_Shift_Del	DEL	T	T	-																															atactatggcgtgatggcccTgacagcctctccaggtatgt																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:104828465delT	ENST00000369878.4	+	5	2341	c.2153delT	c.(2152-2154)ctgfs	p.L718fs	CNNM2_ENST00000433628.2_Frame_Shift_Del_p.L718fs|CNNM2_ENST00000475511.1_3'UTR	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	718					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTGATGGCCCTGACAGCCTCT	0.522																																																	0													68	70	69					10																	104828465		1975	4162	6137	SO:0001589	frameshift_variant	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2153delT	10.37:g.104828465delT	ENSP00000358894:p.Leu718fs		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Del	DEL	pfam_DUF21,superfamily_cNMP-bd-like	p.L718fs	ENST00000369878.4	37	c.2153	CCDS44474.1	10																																																																																			CNNM2	-	superfamily_cNMP-bd-like	ENSG00000148842		0.522	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3		0	57	0	T	NM_017649		104828465	1	tier1		no_errors	ENST00000369878	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-	-	104828465	T	-	104828465	7	5	79	1	0	1	0	1	0	0	0	0	3620	1580	55	0	2213	0	CNNM2	10	104828465	Frame_Shift_Del	DEL	T	TCGA-L5-A8NE-01A-11D-A37C-09	1979019	104828465	30706282	175	20831											
SFXN4	119559	genome.wustl.edu	37	chr10	120914684	120914684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacattcattccactggCttgcactgtagatgtaaaga	12	12	9	8	0	1	3	1	0	0	3	2	3	2	3	1	1	1	5	1	1	4	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:120914684C>T	ENST00000355697.2	-	11	641	c.622G>A	c.(622-624)Gcc>Acc	p.A208T	SFXN4_ENST00000330036.6_Missense_Mutation_p.A199T|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	208					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ATTCCACTGGCTTGCACTGTA	0.493																																																	0													96	86	90					10																	120914684		2203	4300	6503	SO:0001583	missense	0				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"Sideroflexins"	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.622G>A	10.37:g.120914684C>T	ENSP00000347924:p.Ala208Thr		Q6WSU4|Q86TD9	Missense_Mutation	SNP	pfam_Mtc	p.A208T	ENST00000355697.2	37	c.622	CCDS7610.1	10	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733833	0.48939	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.55052	0.54;0.54;0.54	4.47	-5.52	0.02560	.	0.871005	0.09916	N	0.739113	T	0.41534	0.1163	L	0.29908	0.895	0.09310	N	1	P	0.37781	0.608	P	0.46885	0.53	T	0.49504	-0.8933	10	0.87932	D	0	-3.7305	4.4501	0.11616	0.1114:0.176:0.1205:0.5921	.	208	Q6P4A7	SFXN4_HUMAN	T	208;199;91;92	ENSP00000347924:A208T;ENSP00000333200:A199T;ENSP00000358127:A92T	ENSP00000333200:A199T	A	-	1	0	SFXN4	120904674	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.455000	0.02379	-0.940000	0.03705	-0.824000	0.03097	GCC	SFXN4	-	pfam_Mtc	ENSG00000183605		0.493	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN4	HGNC	protein_coding	OTTHUMT00000050642.3	-	0	47	0	C	XM_058406		120914684	-1	tier1	-	no_errors	ENST00000355697	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.000	T	T	120914684	C	T	120914684	3	4	79	1	0	0	0	0	1	0	0	0	14242	797	28	3	407	3	SFXN4	10	120914684	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	16086219	120914684	14620063	176	20832											
CHST15	51363	genome.wustl.edu	37	chr10	125805569	125805569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttcgagaacagcaagcaAgttcatctgcttactgtcca	12	10	7	12	1	2	1	1	0	1	1	4	2	3	1	1	0	5	4	1	0	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:125805569A>G	ENST00000346248.5	-	2	802	c.160T>C	c.(160-162)Ttg>Ctg	p.L54L	CHST15_ENST00000435907.1_Silent_p.L54L|CHST15_ENST00000421115.1_Silent_p.L54L|CHST15_ENST00000462406.1_5'UTR	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	54					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ACAGCAAGCAAGTTCATCTGC	0.517																																																	0													85	74	78					10																	125805569		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.160T>C	10.37:g.125805569A>G			O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L54	ENST00000346248.5	37	c.160	CCDS7638.1	10																																																																																			CHST15	-	NULL	ENSG00000182022		0.517	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	-	0	68	0	A	NM_015892		125805569	-1	tier1	-	no_errors	ENST00000346248	ensembl	human	known	74_37	silent	35.62	47	26	SNP	1.000	G	G	125805569	A	G	125805569	2	3	79	1	0	0	0	0	0	0	0	1	3410	69	3	4		4	CHST15	10	125805569	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	4890885	125805569	9729178	177	20833											
ZRANB1	54764	genome.wustl.edu	37	chr10	126660624	126660624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatagctgcctctcttcatCagagaaagggggattttgct	10	12	11	8	0	3	2	2	0	1	2	4	4	3	3	1	2	3	2	1	2	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:126660624C>A	ENST00000359653.4	+	3	1464	c.1093C>A	c.(1093-1095)Cag>Aag	p.Q365K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	365					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CTCTCTTCATCAGAGAAAGGG	0.398																																																	0													126	128	127					10																	126660624		2203	4300	6503	SO:0001583	missense	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1093C>A	10.37:g.126660624C>A	ENSP00000352676:p.Gln365Lys		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.Q365K	ENST00000359653.4	37	c.1093	CCDS7642.1	10	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795461	0.50208	.	.	ENSG00000019995	ENST00000359653	T	0.17854	2.25	5.35	5.35	0.76521	.	0.054549	0.85682	D	0.000000	T	0.17238	0.0414	L	0.59436	1.845	0.80722	D	1	B	0.28291	0.206	B	0.17433	0.018	T	0.10109	-1.0644	10	0.05620	T	0.96	-14.7346	19.069	0.93125	0.0:1.0:0.0:0.0	.	365	Q9UGI0	ZRAN1_HUMAN	K	365	ENSP00000352676:Q365K	ENSP00000352676:Q365K	Q	+	1	0	ZRANB1	126650614	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	5.641000	0.67881	2.514000	0.84764	0.585000	0.79938	CAG	ZRANB1	-	NULL	ENSG00000019995		0.398	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1	-	0	73	0	C	NM_017580		126660624	1	tier1	-	no_errors	ENST00000359653	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	126660624	C	A	126660624	3	1	79	1	0	0	0	0	1	0	0	0	18270	827	29	3	1103	3	ZRANB1	10	126660624	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	855055	126660624	8874123	178	20834											
CTBP2	1488	genome.wustl.edu	37	chr10	126682492	126682492	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctccttgagggcttgtgcTaaggctttctcgtccaccag	5	12	10	14	1	1	1	0	1	1	0	4	1	3	1	4	2	1	3	4	2	1	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:126682492T>C	ENST00000337195.5	-	8	1242	c.843A>G	c.(841-843)ttA>ttG	p.L281L	CTBP2_ENST00000309035.6_Silent_p.L821L|CTBP2_ENST00000411419.2_Silent_p.L281L|CTBP2_ENST00000334808.6_Silent_p.L349L|CTBP2_ENST00000494626.2_Silent_p.L281L|CTBP2_ENST00000531469.1_Silent_p.L281L	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	281					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGGCTTGTGCTAAGGCTTTCT	0.617																																																	0													92	95	94					10																	126682492		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.843A>G	10.37:g.126682492T>C			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.L821	ENST00000337195.5	37	c.2463	CCDS7643.1	10																																																																																			CTBP2	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000175029		0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0	34	0	T	NM_001083914		126682492	-1	tier1	-	no_errors	ENST00000309035	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.991	C	C	126682492	T	C	126682492	2	2	79	1	0	0	0	0	0	0	0	1	4007	1519	53	4		4	CTBP2	10	126682492	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	21868	126682492	8852255	179	20835											
NPS	594857	genome.wustl.edu	37	chr10	129350824	129350824	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaaagccaattttggagaAgatgtttgtgaaaaggtcct	13	13	10	5	0	1	3	0	1	1	2	2	4	2	3	2	2	1	1	2	2	6	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:129350824A>C	ENST00000398023.1	+	3	211	c.191A>C	c.(190-192)aAg>aCg	p.K64T		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	64					neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|visual learning (GO:0008542)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ATTTTGGAGAAGATGTTTGTG	0.418																																																	0													210	205	207					10																	129350824		1843	4098	5941	SO:0001583	missense	0			BC148465	CCDS41577.1	10q26.2	2013-02-26			ENSG00000214285	ENSG00000214285		"Endogenous ligands"	33940	protein-coding gene	gene with protein product	"prepro-neuropeptide S"	609513				18181564, 15312648	Standard	NM_001030013		Approved		uc001ljx.1	P0C0P6		ENST00000398023.1:c.191A>C	10.37:g.129350824A>C	ENSP00000381105:p.Lys64Thr			Missense_Mutation	SNP	NULL	p.K64T	ENST00000398023.1	37	c.191	CCDS41577.1	10	.	.	.	.	.	.	.	.	.	.	A	10.88	1.476272	0.26511	.	.	ENSG00000214285	ENST00000398023	T	0.51817	0.69	5.73	3.36	0.38483	.	0.246245	0.19779	U	0.106262	T	0.34279	0.0892	.	.	.	0.23232	N	0.99807	B	0.24426	0.103	B	0.26094	0.066	T	0.32929	-0.9888	9	0.66056	D	0.02	-5.0566	4.068	0.09869	0.577:0.241:0.0661:0.1159	.	64	P0C0P6	NPS_HUMAN	T	64	ENSP00000381105:K64T	ENSP00000381105:K64T	K	+	2	0	NPS	129240814	0.985000	0.35326	0.875000	0.34327	0.028000	0.11728	0.804000	0.27098	0.426000	0.26116	-0.334000	0.08254	AAG	NPS	-	NULL	ENSG00000214285		0.418	NPS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NPS	HGNC	protein_coding		-	0	41	0	A	NM_001030013		129350824	1	tier1	-	no_errors	ENST00000398023	ensembl	human	known	74_37	missense	38.30	29	18	SNP	0.616	C	C	129350824	A	C	129350824	3	2	79	1	0	0	0	0	1	0	0	0	10638	72	3	4	201	4	NPS	10	129350824	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	2668332	129350824	6183923	180	20836											
TCERG1L	256536	genome.wustl.edu	37	chr10	133107433	133107433	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccttacagttaggaatccTtttgtctatccaacttttcc	9	17	4	11	0	1	0	0	0	1	0	4	1	4	1	4	1	3	1	4	1	6	8			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr10:133107433T>G	ENST00000368642.4	-	2	557	c.472A>C	c.(472-474)Agg>Cgg	p.R158R		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	158	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTAGGAATCCTTTTGTCTATC	0.443																																																	0													72	70	71					10																	133107433		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.472A>C	10.37:g.133107433T>G			Q5VWI2|Q86XM8	Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R158	ENST00000368642.4	37	c.472	CCDS7662.2	10																																																																																			TCERG1L	-	NULL	ENSG00000176769		0.443	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	-	0	61	0	T	NM_174937		133107433	-1	tier1	-	no_errors	ENST00000368642	ensembl	human	known	74_37	silent	22.64	41	12	SNP	1.000	G	G	133107433	T	G	133107433	2	3	79	1	0	0	0	0	0	0	0	1	15733	1608	56	4		4	TCERG1L	10	133107433	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	3756609	133107433	2427314	181	20837											
STIM1	6786	genome.wustl.edu	37	chr11	4095753	4095753	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacaaggcccaggaggaGcaccgcacagtggaggtgga	11	3	16	11	1	0	0	0	0	0	0	0	4	0	4	2	6	2	3	2	6	1	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:4095753G>C	ENST00000300737.4	+	7	1382	c.813G>C	c.(811-813)gaG>gaC	p.E271D	STIM1_ENST00000527651.1_Missense_Mutation_p.E271D|STIM1_ENST00000533977.1_Missense_Mutation_p.E98D	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	271	Glu-rich.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CCCAGGAGGAGCACCGCACAG	0.617																																																	0													50	46	47					11																	4095753		2201	4298	6499	SO:0001583	missense	0			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.813G>C	11.37:g.4095753G>C	ENSP00000300737:p.Glu271Asp		E9PQJ4|Q8N382	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E271D	ENST00000300737.4	37	c.813	CCDS7749.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.094903|4.094903	0.76870|0.76870	.|.	.|.	ENSG00000167323|ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000533977|ENST00000526596	T;T;T|.	0.80566|.	-0.38;-1.39;-0.42|.	5.44|5.44	1.99|1.99	0.26369|0.26369	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69735|0.69735	0.3144|0.3144	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.72625|.	0.978;0.978|.	T|T	0.68507|0.68507	-0.5390|-0.5390	10|5	0.52906|.	T|.	0.07|.	-23.9959|-23.9959	10.8908|10.8908	0.46994|0.46994	0.2466:0.0:0.7534:0.0|0.2466:0.0:0.7534:0.0	.|.	271;271|.	E9PQJ4;Q13586|.	.;STIM1_HUMAN|.	D|T	271;271;98|2	ENSP00000300737:E271D;ENSP00000436208:E271D;ENSP00000434767:E98D|.	ENSP00000300737:E271D|.	E|S	+|+	3|2	2|0	STIM1|STIM1	4052329|4052329	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.624000|1.624000	0.37018|0.37018	0.636000|0.636000	0.30508|0.30508	0.655000|0.655000	0.94253|0.94253	GAG|AGC	STIM1	-	NULL	ENSG00000167323		0.617	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIM1	HGNC	protein_coding	OTTHUMT00000257196.1	-	0	32	0	G	NM_003156		4095753	1	tier1	-	no_errors	ENST00000300737	ensembl	human	known	74_37	missense	30.77	18	8	SNP	1.000	C	C	4095753	G	C	4095753	3	2	79	1	0	0	0	0	1	0	0	0	15330	962	34	5	839	5	STIM1	11	4095753	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09		4095753	130910763	182	20838											
OR52K2	119774	genome.wustl.edu	37	chr11	4471059	4471059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgactccactccccttcCtgctgagatgtttccactac	8	13	5	15	0	0	2	0	2	0	1	4	3	4	2	5	0	2	2	5	0	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:4471059C>A	ENST00000325719.4	+	1	535	c.490C>A	c.(490-492)Ctg>Atg	p.L164M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTCCCCTTCCTGCTGAGATG	0.577																																																	0													153	129	137					11																	4471059		2201	4298	6499	SO:0001583	missense	0			AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"GPCR / Class A : Olfactory receptors"	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.490C>A	11.37:g.4471059C>A	ENSP00000318956:p.Leu164Met		A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L164M	ENST00000325719.4	37	c.490	CCDS31351.1	11	.	.	.	.	.	.	.	.	.	.	C	7.212	0.595586	0.13875	.	.	ENSG00000181963	ENST00000325719	T	0.00145	8.67	4.0	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.219727	0.22588	N	0.058124	T	0.00300	0.0009	L	0.49455	1.56	0.09310	N	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.51140	-0.8743	10	0.51188	T	0.08	.	8.3255	0.32153	0.0:0.8014:0.0:0.1986	.	164	Q8NGK3	O52K2_HUMAN	M	164	ENSP00000318956:L164M	ENSP00000318956:L164M	L	+	1	2	OR52K2	4427635	0.000000	0.05858	0.996000	0.52242	0.237000	0.25408	-0.199000	0.09491	0.352000	0.24053	-0.350000	0.07774	CTG	OR52K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181963		0.577	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52K2	HGNC	protein_coding	OTTHUMT00000385844.1	-	0	86	0	C	NM_001005172		4471059	1	tier1	-	no_errors	ENST00000325719	ensembl	human	known	74_37	missense	25.97	57	20	SNP	0.412	A	A	4471059	C	A	4471059	3	1	79	1	0	0	0	0	1	0	0	0	11163	680	24	3	492	3	OR52K2	11	4471059	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	375306	4471059	130535457	183	20839											
OR52A5	390054	genome.wustl.edu	37	chr11	5153418	5153418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataagaatggcagccctgAgtgtcaccccaagtccaata	13	9	8	11	0	1	2	1	1	0	1	2	2	2	2	4	1	1	1	4	1	6	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:5153418A>T	ENST00000307388.1	-	1	454	c.455T>A	c.(454-456)cTc>cAc	p.L152H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	152					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCAGCCCTGAGTGTCACCCC	0.473																																																	0													80	76	77					11																	5153418		2201	4298	6499	SO:0001583	missense	0			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"GPCR / Class A : Olfactory receptors"	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.455T>A	11.37:g.5153418A>T	ENSP00000303469:p.Leu152His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L152H	ENST00000307388.1	37	c.455	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	A	11.53	1.665553	0.29604	.	.	ENSG00000171944	ENST00000307388	T	0.45276	0.9	5.22	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.180534	0.25151	N	0.032757	T	0.68072	0.2961	M	0.87097	2.86	0.09310	N	1	D	0.71674	0.998	D	0.73708	0.981	T	0.64984	-0.6278	10	0.72032	D	0.01	.	14.0725	0.64868	1.0:0.0:0.0:0.0	.	152	Q9H2C5	O52A5_HUMAN	H	152	ENSP00000303469:L152H	ENSP00000303469:L152H	L	-	2	0	OR52A5	5109994	0.007000	0.16637	0.906000	0.35671	0.028000	0.11728	1.904000	0.39868	2.186000	0.69663	0.533000	0.62120	CTC	OR52A5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171944		0.473	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	-	0	58	0	A	NM_001005160		5153418	-1	tier1	-	no_errors	ENST00000307388	ensembl	human	known	74_37	missense	48.15	28	26	SNP	0.008	T	T	5153418	A	T	5153418	3	4	79	1	0	0	0	0	1	0	0	0	11149	304	11	5	498	5	OR52A5	11	5153418	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	682359	5153418	129853098	184	20840											
HBE1	3046	genome.wustl.edu	37	chr11	5290750	5290750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcttagcaaaggcgggCttgaggttgtccatgttttt	7	14	12	8	1	1	1	1	1	0	0	2	1	2	1	1	3	2	5	1	3	2	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:5290750C>T	ENST00000380237.1	-	4	593	c.249G>A	c.(247-249)aaG>aaA	p.K83K	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.K83K			P02100	HBE_HUMAN	hemoglobin, epsilon 1	83					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGGCGGGCTTGAGGTTGT	0.517																																																	0													144	131	135					11																	5290750		2201	4297	6498	SO:0001819	synonymous_variant	0			BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.249G>A	11.37:g.5290750C>T			Q6FH44	Silent	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin	p.K83	ENST00000380237.1	37	c.249	CCDS7756.1	11																																																																																			HBE1	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b	ENSG00000213931		0.517	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBE1	HGNC	protein_coding	OTTHUMT00000142973.2	-	0	121	0	C	NM_005330		5290750	-1	tier1	-	no_errors	ENST00000292896	ensembl	human	known	74_37	silent	61.97	27	44	SNP	0.175	T	T	5290750	C	T	5290750	2	4	79	1	0	0	0	0	0	0	0	1	7007	796	28	3		3	HBE1	11	5290750	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	137332	5290750	129715766	185	20841											
TAF10	6881	genome.wustl.edu	37	chr11	6632477	6632477	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcattttgcagtgctgtagGgcatcattggcaatatctga	9	15	10	7	0	3	1	2	1	1	0	3	1	3	1	0	2	2	5	0	2	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:6632477G>A	ENST00000299424.4	-	4	987	c.510C>T	c.(508-510)gcC>gcT	p.A170A	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	170					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGCTGTAGGGCATCATTGG	0.478																																																	0													84	87	86					11																	6632477		2201	4296	6497	SO:0001819	synonymous_variant	0			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.510C>T	11.37:g.6632477G>A			O00703|Q13175|Q6FH13	Silent	SNP	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	p.A170	ENST00000299424.4	37	c.510	CCDS7769.1	11																																																																																			TAF10	-	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	ENSG00000166337		0.478	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF10	HGNC	protein_coding	OTTHUMT00000257259.2	-	0	32	0	G	NM_006284		6632477	-1	tier1	-	no_errors	ENST00000299424	ensembl	human	known	74_37	silent	47.06	9	8	SNP	1.000	A	A	6632477	G	A	6632477	2	1	79	1	0	0	0	0	0	0	0	1	15561	1219	43	3		3	TAF10	11	6632477	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1341727	6632477	128374039	186	20842											
OR5P3	120066	genome.wustl.edu	37	chr11	7847434	7847434	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataaattcctagaaacacaAgaaataaaatagcacaaact	23	7	3	8	0	0	2	0	0	0	2	1	2	1	2	1	0	3	1	1	0	10	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:7847434A>C	ENST00000328375.1	-	1	85	c.86T>G	c.(85-87)cTt>cGt	p.L29R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGAAACACAAGAAATAAAAT	0.363																																																	0													55	60	58					11																	7847434		2185	4296	6481	SO:0001583	missense	0			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.86T>G	11.37:g.7847434A>C	ENSP00000332068:p.Leu29Arg		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L29R	ENST00000328375.1	37	c.86	CCDS7783.1	11	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792530	0.31685	.	.	ENSG00000182334	ENST00000328375	T	0.00457	7.29	5.18	1.45	0.22620	.	0.768697	0.10546	U	0.662001	T	0.00580	0.0019	M	0.77103	2.36	0.09310	N	1	P	0.40376	0.715	B	0.40864	0.342	T	0.43556	-0.9384	10	0.72032	D	0.01	-7.2782	5.4987	0.16817	0.6947:0.1468:0.1585:0.0	.	29	Q8WZ94	OR5P3_HUMAN	R	29	ENSP00000332068:L29R	ENSP00000332068:L29R	L	-	2	0	OR5P3	7804010	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.918000	0.28678	0.083000	0.17047	-0.331000	0.08364	CTT	OR5P3	-	prints_GPCR_Rhodpsn	ENSG00000182334		0.363	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P3	HGNC	protein_coding	OTTHUMT00000385697.1	-	0	26	0	A	NM_153445		7847434	-1	tier1	-	no_errors	ENST00000328375	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.000	C	C	7847434	A	C	7847434	3	2	79	1	0	0	0	0	1	0	0	0	11218	72	3	4	852	4	OR5P3	11	7847434	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1214957	7847434	127159082	187	20843											
TUB	7275	genome.wustl.edu	37	chr11	8117062	8117062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcaccagcgggccagcaGcactggcagaagacaagtct	12	3	13	13	1	1	2	0	0	1	2	1	2	1	2	2	3	3	4	2	3	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:8117062G>C	ENST00000299506.2	+	5	564	c.415G>C	c.(415-417)Gca>Cca	p.A139P	TUB_ENST00000305253.4_Missense_Mutation_p.A194P|TUB_ENST00000534099.1_Missense_Mutation_p.A145P	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	139					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGGGCCAGCAGCACTGGCAGA	0.637																																																	0													32	36	34					11																	8117062		2196	4293	6489	SO:0001583	missense	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"tubby (mouse) homolog", "tubby homolog (mouse)"			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.415G>C	11.37:g.8117062G>C	ENSP00000299506:p.Ala139Pro		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.A194P	ENST00000299506.2	37	c.580	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175409	0.38413	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86694	-2.12;-2.16;-2.12	4.79	1.08	0.20341	Tubby, N-terminal (1);	0.477981	0.21800	N	0.068936	D	0.87293	0.6141	L	0.59436	1.845	0.34146	D	0.666981	B;P;D	0.57571	0.003;0.855;0.98	B;B;P	0.58331	0.002;0.271;0.837	D	0.84497	0.0614	10	0.15952	T	0.53	-11.5511	8.154	0.31158	0.1932:0.0:0.6863:0.1204	.	145;139;194	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	P	145;194;139	ENSP00000434400:A145P;ENSP00000305426:A194P;ENSP00000299506:A139P	ENSP00000299506:A139P	A	+	1	0	TUB	8073638	1.000000	0.71417	0.979000	0.43373	0.950000	0.60333	2.779000	0.47734	-0.102000	0.12197	-0.797000	0.03246	GCA	TUB	-	prints_Tubby_N	ENSG00000166402		0.637	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	-	0	54	0	G	NM_003320		8117062	1	tier1	-	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.978	C	C	8117062	G	C	8117062	3	2	79	1	0	0	0	0	1	0	0	0	16791	971	34	5	644	5	TUB	11	8117062	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	269628	8117062	126889454	188	20844											
GALNTL4	374378	genome.wustl.edu	37	chr11	11362428	11362428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcatccatccagacttcagCcaccctgagagcgttcctgc	8	10	7	16	1	2	2	2	1	0	2	5	3	5	2	5	0	3	1	5	0	0	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:11362428C>T	ENST00000227756.4	-	7	1627	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	406					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CAGACTTCAGCCACCCTGAGA	0.572																																																	0													205	206	205					11																	11362428		2201	4294	6495	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1216G>A	11.37:g.11362428C>T	ENSP00000227756:p.Ala406Thr		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A406T	ENST00000227756.4	37	c.1216	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.514197	0.96402	.	.	ENSG00000110328	ENST00000227756	T	0.72051	-0.62	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.88537	0.6463	M	0.94063	3.49	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.90888	0.4759	10	0.87932	D	0	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	406	Q6P9A2	GLTL4_HUMAN	T	406	ENSP00000227756:A406T	ENSP00000227756:A406T	A	-	1	0	GALNTL4	11319004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.716000	0.92895	0.561000	0.74099	GCT	GALNT18	-	NULL	ENSG00000110328		0.572	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1	-	0	49	0	C	NM_198516		11362428	-1	tier1	-	no_errors	ENST00000227756	ensembl	human	known	74_37	missense	50.00	18	18	SNP	1.000	T	T	11362428	C	T	11362428	3	4	79	1	0	0	0	0	1	0	0	0	6248	739	26	3	627	3	GALNTL4	11	11362428	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	3245366	11362428	123644088	189	20845											
MUC15	143662	genome.wustl.edu	37	chr11	26582672	26582672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccatcacgtgcattttcTtcactttctggcatggctga	7	15	8	11	1	4	1	2	1	2	0	4	1	4	1	1	2	2	3	1	2	0	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:26582672T>G	ENST00000455601.2	-	4	1063	c.945A>C	c.(943-945)gaA>gaC	p.E315D	ANO3_ENST00000256737.3_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.E342D|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.E292D|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.E342D|MUC15_ENST00000527569.1_Missense_Mutation_p.E292D	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	315					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTGCATTTTCTTCACTTTCTG	0.408																																																	0													188	169	175					11																	26582672		2203	4300	6503	SO:0001583	missense	0			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"Mucins"	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.945A>C	11.37:g.26582672T>G	ENSP00000397339:p.Glu315Asp		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	NULL	p.E342D	ENST00000455601.2	37	c.1026	CCDS7859.1	11	.	.	.	.	.	.	.	.	.	.	T	10.05	1.245075	0.22796	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.23950	1.9;1.89;1.88;1.89;1.88	5.33	4.03	0.46877	.	1.812460	0.03040	N	0.153296	T	0.13970	0.0338	N	0.08118	0	0.09310	N	0.999996	B;B;B	0.13594	0.002;0.003;0.008	B;B;B	0.13407	0.006;0.009;0.009	T	0.23833	-1.0177	10	0.16420	T	0.52	-6.9608	5.1177	0.14843	0.0:0.1236:0.1787:0.6977	.	292;315;342	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	D	315;342;292;342;292	ENSP00000397339:E315D;ENSP00000416753:E342D;ENSP00000281268:E292D;ENSP00000431983:E342D;ENSP00000431945:E292D	ENSP00000281268:E292D	E	-	3	2	MUC15	26539248	0.236000	0.23804	0.862000	0.33874	0.035000	0.12851	0.839000	0.27586	2.142000	0.66516	0.482000	0.46254	GAA	MUC15	-	NULL	ENSG00000169550		0.408	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC15	HGNC	protein_coding	OTTHUMT00000387866.1	-	0	66	0	T	NM_145650		26582672	-1	tier1	-	no_errors	ENST00000436318	ensembl	human	known	74_37	missense	39.13	28	18	SNP	0.545	G	G	26582672	T	G	26582672	3	3	79	1	0	0	0	0	1	0	0	0	10010	1606	56	4	63	4	MUC15	11	26582672	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	15220244	26582672	108423844	190	20846											
SLC5A12	159963	genome.wustl.edu	37	chr11	26705342	26705342	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacacgattcccagggagaAtaagcccagcattggtcctc	12	7	10	12	1	0	1	0	0	0	1	3	4	2	1	3	2	3	1	3	2	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:26705342A>C	ENST00000396005.3	-	11	1579	c.1270T>G	c.(1270-1272)Ttc>Gtc	p.F424V		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	424					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCCAGGGAGAATAAGCCCAGC	0.522																																																	0													59	58	59					11																	26705342		1938	4154	6092	SO:0001583	missense	0			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"Solute carriers"	28750	protein-coding gene	gene with protein product		612455	"solute carrier family 5 (sodium/glucose cotransporter), member 12"			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1270T>G	11.37:g.26705342A>C	ENSP00000379326:p.Phe424Val		Q86UC7	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F424V	ENST00000396005.3	37	c.1270	CCDS7860.2	11	.	.	.	.	.	.	.	.	.	.	A	15.04	2.713888	0.48622	.	.	ENSG00000148942	ENST00000396005	D	0.87179	-2.22	5.59	5.59	0.84812	.	0.524198	0.16688	N	0.203648	D	0.95626	0.8578	H	0.97758	4.07	0.80722	D	1	D	0.59357	0.985	D	0.63113	0.911	D	0.96764	0.9563	10	0.87932	D	0	.	14.7404	0.69448	1.0:0.0:0.0:0.0	.	424	Q1EHB4	SC5AC_HUMAN	V	424	ENSP00000379326:F424V	ENSP00000379326:F424V	F	-	1	0	SLC5A12	26661918	1.000000	0.71417	0.956000	0.39512	0.107000	0.19398	7.278000	0.78587	2.117000	0.64856	0.533000	0.62120	TTC	SLC5A12	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000148942		0.522	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A12	HGNC	protein_coding	OTTHUMT00000319681.1	-	0	44	0	A	NM_178498		26705342	-1	tier1	-	no_errors	ENST00000396005	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.997	C	C	26705342	A	C	26705342	3	2	79	1	0	0	0	0	1	0	0	0	14709	101	4	4	606	4	SLC5A12	11	26705342	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	122670	26705342	108301174	191	20847											
LRP4	4038	genome.wustl.edu	37	chr11	46900815	46900815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagtccaatagatgcgctCtccatagagggtcagcccaa	11	8	10	12	1	3	2	2	0	1	2	5	2	4	2	3	1	2	1	3	1	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:46900815C>T	ENST00000378623.1	-	21	3108	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	956					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TAGATGCGCTCTCCATAGAGG	0.567																																																	0													65	66	66					11																	46900815		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2866G>A	11.37:g.46900815C>T	ENSP00000367888:p.Glu956Lys		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.E956K	ENST00000378623.1	37	c.2866	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784243	0.49997	.	.	ENSG00000134569	ENST00000378623	D	0.90900	-2.75	5.51	4.58	0.56647	Six-bladed beta-propeller, TolB-like (1);	0.110837	0.64402	D	0.000006	D	0.84284	0.5438	L	0.31926	0.97	0.41246	D	0.986671	B	0.02656	0.0	B	0.09377	0.004	T	0.79371	-0.1831	10	0.35671	T	0.21	.	10.6625	0.45710	0.0:0.7893:0.1383:0.0724	.	956	O75096	LRP4_HUMAN	K	956	ENSP00000367888:E956K	ENSP00000367888:E956K	E	-	1	0	LRP4	46857391	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	4.050000	0.57404	1.428000	0.47296	0.462000	0.41574	GAG	LRP4	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0	48	0	C	NM_002334		46900815	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	46900815	C	T	46900815	3	4	79	1	0	0	0	0	1	0	0	0	8994	922	32	3	2923	3	LRP4	11	46900815	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	20195473	46900815	88105701	192	20848											
OR5T1	390155	genome.wustl.edu	37	chr11	56043855	56043855	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgctgaagggaggagAaaagtcttctctacatgtgg	11	10	13	7	0	3	2	0	1	3	1	4	4	3	3	0	3	2	1	0	3	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:56043855A>G	ENST00000313033.2	+	1	827	c.741A>G	c.(739-741)agA>agG	p.R247R		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					AAGGGAGGAGAAAAGTCTTCT	0.443																																																	0													233	206	215					11																	56043855		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.741A>G	11.37:g.56043855A>G			B2RNM9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R247	ENST00000313033.2	37	c.741	CCDS31525.1	11																																																																																			OR5T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181698		0.443	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	-	0	77	0	A	NM_001004745		56043855	1	tier1	-	no_errors	ENST00000313033	ensembl	human	known	74_37	silent	54.65	39	47	SNP	0.001	G	G	56043855	A	G	56043855	2	3	79	1	0	0	0	0	0	0	0	1	11220	243	9	4		4	OR5T1	11	56043855	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	9143040	56043855	78962661	193	20849											
SMTNL1	219537	genome.wustl.edu	37	chr11	57310453	57310453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggttctcaggagatgactgGcaggaaagaagagaccaaat	15	6	14	6	0	1	4	1	1	1	3	2	7	1	5	1	4	0	2	1	4	3	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:57310453G>A	ENST00000399154.2	+	1	338	c.338G>A	c.(337-339)gGc>gAc	p.G113D	SMTNL1_ENST00000527972.1_Missense_Mutation_p.G113D|SMTNL1_ENST00000457912.1_Missense_Mutation_p.G131D			A8MU46	SMTL1_HUMAN	smoothelin-like 1	113	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GAGATGACTGGCAGGAAAGAA	0.522																																																	0													39	40	40					11																	57310453		1976	4172	6148	SO:0001583	missense	0			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"calponin homology-associated smooth muscle protein"	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.338G>A	11.37:g.57310453G>A	ENSP00000382108:p.Gly113Asp			Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.G131D	ENST00000399154.2	37	c.392		11	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517885	0.04171	.	.	ENSG00000214872	ENST00000457912;ENST00000527972;ENST00000399154	T;T;T	0.02498	4.35;4.35;4.27	4.64	-4.33	0.03677	.	0.700299	0.10944	N	0.616851	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47156	-0.9139	10	0.10111	T	0.7	-0.431	3.9606	0.09409	0.233:0.1384:0.493:0.1356	.	131	C9J621	.	D	131;113;113	ENSP00000406485:G131D;ENSP00000432651:G113D;ENSP00000382108:G113D	ENSP00000382108:G113D	G	+	2	0	SMTNL1	57067029	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.310000	0.08135	-1.102000	0.03023	-0.345000	0.07892	GGC	SMTNL1	-	NULL	ENSG00000214872		0.522	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		-	0	21	0	G	XM_166203		57310453	1	tier1	-	no_errors	ENST00000457912	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.000	A	A	57310453	G	A	57310453	3	1	79	1	0	0	0	0	1	0	0	0	14860	1203	42	3	398	3	SMTNL1	11	57310453	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1266598	57310453	77696063	194	20850											
GDPD5	81544	genome.wustl.edu	37	chr11	75148017	75148017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttcatgatgctgacgtCccggctggtccggcgcaccg	4	9	12	16	5	1	2	1	2	0	0	4	2	4	2	4	3	1	3	4	3	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:75148017C>T	ENST00000336898.3	-	16	2470	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	GDPD5_ENST00000529721.1_Missense_Mutation_p.D545N|GDPD5_ENST00000533784.1_Missense_Mutation_p.D426N|GDPD5_ENST00000526177.1_Missense_Mutation_p.D407N|GDPD5_ENST00000376282.3_Missense_Mutation_p.D426N|GDPD5_ENST00000533805.1_Missense_Mutation_p.D300N|GDPD5_ENST00000443276.2_3'UTR	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	545					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ATGCTGACGTCCCGGCTGGTC	0.622																																																	0													73	65	68					11																	75148017		2200	4293	6493	SO:0001583	missense	0			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1633G>A	11.37:g.75148017C>T	ENSP00000337972:p.Asp545Asn		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.D545N	ENST00000336898.3	37	c.1633	CCDS8238.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.343336	0.95783	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.48522	1.63;1.7;1.79;1.79;1.7;1.7;0.81	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68032	-0.5516	10	0.66056	D	0.02	-24.9822	16.1297	0.81418	0.0:1.0:0.0:0.0	.	426;545	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	N	407;426;545;545;300;426;134	ENSP00000434050:D407N;ENSP00000437049:D426N;ENSP00000433214:D545N;ENSP00000337972:D545N;ENSP00000435196:D300N;ENSP00000365459:D426N;ENSP00000435728:D134N	ENSP00000337972:D545N	D	-	1	0	GDPD5	74825665	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.212000	0.77941	2.388000	0.81334	0.462000	0.41574	GAC	GDPD5	-	NULL	ENSG00000158555		0.622	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	HGNC	protein_coding	OTTHUMT00000384409.1	-	0	40	0	C	NM_030792		75148017	-1	tier1	-	no_errors	ENST00000336898	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	75148017	C	T	75148017	3	4	79	1	0	0	0	0	1	0	0	0	6353	855	30	3	192	3	GDPD5	11	75148017	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	17837564	75148017	59858499	195	20851											
DLG2	1740	genome.wustl.edu	37	chr11	84245712	84245712	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgagttctgggcctcttacTtcgtgggttagtcgaggtaa	7	13	13	8	3	2	0	0	0	2	0	4	2	2	0	1	3	1	3	1	3	3	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:84245712T>G	ENST00000532653.1	-	2	407	c.105A>C	c.(103-105)gaA>gaC	p.E35D	DLG2_ENST00000376104.2_Missense_Mutation_p.E140D|DLG2_ENST00000543673.1_Missense_Mutation_p.E140D|DLG2_ENST00000398309.2_Missense_Mutation_p.E35D|DLG2_ENST00000524982.1_Missense_Mutation_p.E35D			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.E35E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGCCTCTTACTTCGTGGGTTA	0.403																																																	1	Substitution - coding silent(1)	pancreas(1)											192	178	182					11																	84245712		1868	4118	5986	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.105A>C	11.37:g.84245712T>G	ENSP00000435849:p.Glu35Asp		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E140D	ENST00000532653.1	37	c.420		11	.	.	.	.	.	.	.	.	.	.	T	21.9	4.222627	0.79464	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000543673;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000527088	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.88	4.75	0.60458	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.000000	0.64402	D	0.000010	T	0.21962	0.0529	N	0.12831	0.26	0.80722	D	1	B;B;B;B	0.14012	0.001;0.009;0.004;0.004	B;B;B;B	0.17979	0.01;0.02;0.009;0.013	T	0.06881	-1.0802	9	.	.	.	.	6.9398	0.24486	0.1329:0.07:0.0:0.7971	.	35;35;140;35	B7Z2T4;E9PN83;Q15700-2;Q15700	.;.;.;DLG2_HUMAN	D	35;140;140;35;35;140;56	ENSP00000381355:E35D;ENSP00000365272:E140D;ENSP00000441994:E140D;ENSP00000432894:E35D;ENSP00000435849:E35D;ENSP00000435809:E56D	.	E	-	3	2	DLG2	83923360	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.305000	0.43664	1.042000	0.40150	0.533000	0.62120	GAA	DLG2	-	pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.403	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	72	0	T	NM_001364		84245712	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	G	G	84245712	T	G	84245712	3	3	79	1	0	0	0	0	1	0	0	0	4569	1606	56	4	2754	4	DLG2	11	84245712	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	9097695	84245712	50760804	196	20852											
GPR83	10888	genome.wustl.edu	37	chr11	94113737	94113737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttcttctttttgcgccGcagggcaaagtactgctctg	5	14	11	11	2	4	0	0	0	4	0	4	0	4	0	1	2	3	4	1	2	2	5	rs200087801		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:94113737G>A	ENST00000243673.2	-	4	1021	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	GPR83_ENST00000539203.2_Missense_Mutation_p.R242W	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	284					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTTGCGCCGCAGGGCAAAG	0.542																																																	0													105	76	86					11																	94113737		2201	4298	6499	SO:0001583	missense	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.850C>T	11.37:g.94113737G>A	ENSP00000243673:p.Arg284Trp		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R284W	ENST00000243673.2	37	c.850	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347455	0.61183	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.72942	-0.7;-0.7	5.21	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.87170	0.2220	10	0.48119	T	0.1	.	13.3304	0.60483	0.0:0.0:0.7134:0.2866	.	284	Q9NYM4	GPR83_HUMAN	W	284;242	ENSP00000243673:R284W;ENSP00000441550:R242W	ENSP00000243673:R284W	R	-	1	2	GPR83	93753385	1.000000	0.71417	0.999000	0.59377	0.819000	0.46315	2.265000	0.43311	0.565000	0.29255	-0.152000	0.13540	CGG	GPR83	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000123901		0.542	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	-	0	36	0	G	NM_016540		94113737	-1	tier1	rs200087801	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	A	A	94113737	G	A	94113737	3	1	79	1	0	0	0	0	1	0	0	0	6739	1086	38	1	425	1	GPR83	11	94113737	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	9868025	94113737	40892779	197	20853											
GUCY1A2	2977	genome.wustl.edu	37	chr11	106680878	106680878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaactttctggcctgtacTtgctgcccttgccataattg	7	15	7	12	0	2	0	1	0	1	0	2	0	2	0	3	1	5	2	3	1	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:106680878T>G	ENST00000526355.2	-	5	2001	c.1533A>C	c.(1531-1533)caA>caC	p.Q511H	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q511H|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q532H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	511					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TGGCCTGTACTTGCTGCCCTT	0.458																																																	0													129	123	125					11																	106680878		2201	4298	6499	SO:0001583	missense	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1533A>C	11.37:g.106680878T>G	ENSP00000431245:p.Gln511His		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q511H	ENST00000526355.2	37	c.1533	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842105	0.51057	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86865	-1.85;-2.18;-1.85	5.57	0.559	0.17272	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.43747	U	0.000528	D	0.83876	0.5349	L	0.27975	0.815	0.34768	D	0.733456	D;P;P	0.53151	0.958;0.931;0.947	P;P;B	0.55161	0.535;0.77;0.339	D	0.83797	0.0234	10	0.40728	T	0.16	.	10.7048	0.45948	0.0:0.4605:0.0:0.5395	.	532;511;511	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	H	511;511;532	ENSP00000431245:Q511H;ENSP00000282249:Q511H;ENSP00000344874:Q532H	ENSP00000282249:Q511H	Q	-	3	2	GUCY1A2	106186088	0.988000	0.35896	0.997000	0.53966	0.935000	0.57460	0.212000	0.17497	-0.133000	0.11537	-0.268000	0.10319	CAA	GUCY1A2	-	superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000152402		0.458	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	-	0	44	0	T			106680878	-1	tier1	-	no_errors	ENST00000282249	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.962	G	G	106680878	T	G	106680878	3	3	79	1	0	0	0	0	1	0	0	0	6920	1606	56	4	681	4	GUCY1A2	11	106680878	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	12567141	106680878	28325638	198	20854											
ZC3H12C	85463	genome.wustl.edu	37	chr11	110007466	110007466	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgtaacaacttcatgggcTtgaaggatcacctagggcat	12	9	10	10	1	2	1	2	1	0	0	2	2	2	2	1	3	2	3	1	3	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:110007466T>G	ENST00000278590.3	+	2	151	c.100T>G	c.(100-102)Ttg>Gtg	p.L34V	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.L35V|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.L3V	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	34							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTTCATGGGCTTGAAGGATCA	0.443																																																	0													88	88	88					11																	110007466		2014	4181	6195	SO:0001583	missense	0				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"Zinc fingers, CCCH-type domain containing"	29362	protein-coding gene	gene with protein product	"MCP induced protein 3"	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.100T>G	11.37:g.110007466T>G	ENSP00000278590:p.Leu34Val		B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.L34V	ENST00000278590.3	37	c.100	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	t	16.04	3.009267	0.54361	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.37058	1.22;1.22;1.26	5.42	2.98	0.34508	.	.	.	.	.	T	0.18923	0.0454	N	0.19112	0.55	0.32770	N	0.503842	B;P;P	0.38020	0.384;0.615;0.615	B;B;B	0.29267	0.07;0.1;0.1	T	0.18777	-1.0326	9	0.34782	T	0.22	-7.5937	8.1662	0.31228	0.0:0.2349:0.0:0.7651	.	35;34;34	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	V	34;35;3	ENSP00000278590:L34V;ENSP00000431821:L35V;ENSP00000413094:L3V	ENSP00000278590:L34V	L	+	1	2	ZC3H12C	109512676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.794000	0.26958	0.310000	0.22990	0.528000	0.53228	TTG	ZC3H12C	-	NULL	ENSG00000149289		0.443	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	-	0	61	0	T	NM_033390		110007466	1	tier1	-	no_errors	ENST00000278590	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.998	G	G	110007466	T	G	110007466	3	3	79	1	0	0	0	0	1	0	0	0	17611	1606	56	4	106	4	ZC3H12C	11	110007466	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	3326588	110007466	24999050	199	20855											
RDX	5962	genome.wustl.edu	37	chr11	110134916	110134916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagaatttagctctaaacTtgaactgtaaaggattctct	15	13	7	6	0	2	2	0	1	2	1	3	4	2	3	0	1	3	2	0	1	8	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:110134916T>G	ENST00000343115.4	-	5	555	c.236A>C	c.(235-237)aAg>aCg	p.K79T	RDX_ENST00000405097.1_Missense_Mutation_p.K79T|RDX_ENST00000528498.1_Missense_Mutation_p.K79T|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Missense_Mutation_p.K47T|RDX_ENST00000544551.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	79	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		AGCTCTAAACTTGAACTGTAA	0.299																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													36	37	37					11																	110134916		2201	4297	6498	SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.236A>C	11.37:g.110134916T>G	ENSP00000342830:p.Lys79Thr		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.K79T	ENST00000343115.4	37	c.236	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	T	20.3	3.963745	0.74016	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000530301;ENST00000343115;ENST00000532118;ENST00000533991	T;T;T;T;T;T	0.76316	-1.01;-1.01;-1.0;-1.01;-1.01;-1.01	4.99	4.99	0.66335	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.87589	0.6215	M	0.77616	2.38	0.80722	D	1	B;D;P	0.89917	0.227;1.0;0.63	B;D;B	0.97110	0.248;1.0;0.442	D	0.88416	0.3025	10	0.51188	T	0.08	.	14.9797	0.71303	0.0:0.0:0.0:1.0	.	47;79;79	A7YIK0;A7YIJ8;P35241	.;.;RADI_HUMAN	T	79;79;79;47;79;68;68	ENSP00000432112:K79T;ENSP00000384136:K79T;ENSP00000436277:K47T;ENSP00000342830:K79T;ENSP00000437140:K68T;ENSP00000432572:K68T	ENSP00000342830:K79T	K	-	2	0	RDX	109640126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.120000	0.64685	1.987000	0.57996	0.528000	0.53228	AAG	RDX	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain	ENSG00000137710		0.299	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	-	0	55	0	T	NM_002906		110134916	-1	tier1	-	no_errors	ENST00000530749	ensembl	human	known	74_37	missense	32.20	40	19	SNP	1.000	G	G	110134916	T	G	110134916	3	3	79	1	0	0	0	0	1	0	0	0	13243	1609	56	4	1555	4	RDX	11	110134916	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	127450	110134916	24871600	200	20856											
SCN4B	6330	genome.wustl.edu	37	chr11	118015906	118015906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtggcctttcccacagAcacctccagcgacagggtta	8	8	11	14	2	0	1	0	0	0	1	3	2	2	1	4	3	1	1	4	3	1	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:118015906A>G	ENST00000324727.4	-	2	246	c.100T>C	c.(100-102)Tct>Cct	p.S34P	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	34	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCCCACAGACACCTCCAGC	0.597											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													133	112	119					11																	118015906		2200	4296	6496	SO:0001583	missense	0			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10592	protein-coding gene	gene with protein product		608256	"sodium channel, voltage-gated, type IV, beta"				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.100T>C	11.37:g.118015906A>G	ENSP00000322460:p.Ser34Pro	1485	E9PPT5|Q6PIG5	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S34P	ENST00000324727.4	37	c.100	CCDS8389.1	11	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333750	0.81801	.	.	ENSG00000177098	ENST00000324727	D	0.97976	-4.64	5.26	5.26	0.73747	Immunoglobulin-like (1);	0.467692	0.22803	N	0.055457	D	0.97876	0.9302	M	0.61703	1.905	0.80722	D	1	D	0.55172	0.97	P	0.59424	0.857	D	0.97684	1.0174	10	0.41790	T	0.15	-15.5058	14.1995	0.65693	1.0:0.0:0.0:0.0	.	34	Q8IWT1	SCN4B_HUMAN	P	34	ENSP00000322460:S34P	ENSP00000322460:S34P	S	-	1	0	SCN4B	117521116	0.994000	0.37717	0.997000	0.53966	0.979000	0.70002	3.082000	0.50128	1.986000	0.57962	0.529000	0.55759	TCT	SCN4B	-	pfscan_Ig-like_dom	ENSG00000177098		0.597	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN4B	HGNC	protein_coding	OTTHUMT00000392326.1	-	0	39	0	A			118015906	-1	tier1	-	no_errors	ENST00000324727	ensembl	human	known	74_37	missense	64.29	15	27	SNP	0.999	G	G	118015906	A	G	118015906	3	3	79	1	0	0	0	0	1	0	0	0	13966	275	10	4	602	4	SCN4B	11	118015906	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	7880990	118015906	16990610	201	20857											
OR6T1	219874	genome.wustl.edu	37	chr11	123813642	123813642	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaccccaaggcttctcTcagtgcttgctgcaccttgt	5	11	10	15	0	2	0	1	0	1	0	3	0	2	0	4	2	3	4	4	2	1	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:123813642T>A	ENST00000321252.2	-	1	938	c.904A>T	c.(904-906)Aga>Tga	p.R302*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAGGCTTCTCTCAGTGCTTGC	0.478																																																	0													169	159	162					11																	123813642		2202	4299	6501	SO:0001587	stop_gained	0			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.904A>T	11.37:g.123813642T>A	ENSP00000325203:p.Arg302*		Q6IFE7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R302*	ENST00000321252.2	37	c.904	CCDS31700.1	11	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654998	0.29425	.	.	ENSG00000181499	ENST00000321252	.	.	.	3.7	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.30789	N	0.741126	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.3092	0.7278	0.00951	0.2004:0.1215:0.2072:0.4709	.	.	.	.	X	302	.	ENSP00000325203:R302X	R	-	1	2	OR6T1	123318852	0.005000	0.15991	0.020000	0.16555	0.212000	0.24457	1.516000	0.35856	1.525000	0.49052	0.460000	0.39030	AGA	OR6T1	-	NULL	ENSG00000181499		0.478	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1	-	0	67	0	T	NM_001005187		123813642	-1	tier1	-	no_errors	ENST00000321252	ensembl	human	known	74_37	nonsense	34.15	27	14	SNP	0.001	A	A	123813642	T	A	123813642	4	1	79	1	0	0	0	0	0	1	0	0	11249	1559	54	5	70	5	OR6T1	11	123813642	Nonsense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	5797736	123813642	11192874	202	20858											
OR8D2	283160	genome.wustl.edu	37	chr11	124189725	124189725	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcgacagatagcaacAtaacggtcatattccatggc	13	8	11	9	2	1	1	1	0	0	1	2	2	2	1	1	3	3	1	1	3	4	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:124189725A>T	ENST00000357438.2	-	1	459	c.369T>A	c.(367-369)taT>taA	p.Y123*		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGATAGCAACATAACGGTCAT	0.418																																																	0													94	89	91					11																	124189725		2201	4299	6500	SO:0001587	stop_gained	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"GPCR / Class A : Olfactory receptors"	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.369T>A	11.37:g.124189725A>T	ENSP00000350022:p.Tyr123*		B9EH49|Q6IFR0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y123*	ENST00000357438.2	37	c.369	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	a	12.12	1.842337	0.32513	.	.	ENSG00000197263	ENST00000357438	.	.	.	3.59	-1.4	0.08968	.	0.162092	0.29152	N	0.012998	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7973	0.40742	0.5685:0.0:0.4315:0.0	.	.	.	.	X	123	.	ENSP00000350022:Y123X	Y	-	3	2	OR8D2	123694935	0.179000	0.23135	0.105000	0.21289	0.032000	0.12392	-0.067000	0.11579	-0.263000	0.09378	0.432000	0.28606	TAT	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197263		0.418	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1		0	40	0	A	NM_001002918		124189725	-1			no_errors	ENST00000357438	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	0.965	T	T	124189725	A	T	124189725	4	4	79	1	0	0	0	0	0	1	0	0	11271	224	8	5	569	5	OR8D2	11	124189725	Nonsense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	376083	124189725	10816791	203	20859											
NCAPD3	23310	genome.wustl.edu	37	chr11	134048529	134048529	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccatgtttttcttacCtaaggtaatgatggcatgtg	8	17	8	8	0	2	1	0	1	2	0	3	1	2	1	2	2	1	3	2	2	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:134048529C>A	ENST00000534548.2	-	22	2846	c.2782G>T	c.(2782-2784)Ggt>Tgt	p.G928C	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	928					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTTTTCTTACCTAAGGTAATG	0.542																																																	0													94	97	96					11																	134048529		2201	4297	6498	SO:0001630	splice_region_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2782+1G>T	11.37:g.134048529C>A			A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.G928C	ENST00000534548.2	37	c.2782	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.183638	0.94885	.	.	ENSG00000151503	ENST00000534548	T	0.43688	0.94	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.044871	0.85682	D	0.000000	T	0.71392	0.3334	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70543	-0.4843	10	0.41790	T	0.15	-25.7545	20.5568	0.99304	0.0:1.0:0.0:0.0	.	928	P42695	CNDD3_HUMAN	C	928	ENSP00000433681:G928C	ENSP00000434168:G928C	G	-	1	0	NCAPD3	133553739	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.046000	0.76592	2.861000	0.98227	0.655000	0.94253	GGT	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.542	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0	38	0	C	NM_015261	Missense_Mutation	134048529	-1	tier1	-	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	134048529	C	A	134048529	5	1	79	1	0	0	0	0	0	0	1	0	10245	695	24	3	1770	3	NCAPD3	11	134048529	Splice_Site	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	9858804	134048529	957987	204	20860											
NCAPD3	23310	genome.wustl.edu	37	chr11	134078847	134078848	+	Splice_Site	INS	-	-	A																															tttgcttggttaagagctctINSaaaaaaaaaagacgaaatat																								rs531031092	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr11:134078847_134078848insA	ENST00000534548.2	-	7	859		c.e7-2			NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTAAGAGCTCTAAAAAAAAAAG	0.337																																																	0																																										SO:0001630	splice_region_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.795-2->T	11.37:g.134078857_134078857dupA			A6NFS2|Q4KMQ9	Splice_Site	INS	-	e7-2	ENST00000534548.2	37	c.795-3_795-2	CCDS31723.1	11																																																																																			NCAPD3	-	-	ENSG00000151503		0.337	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0	56	0	-	NM_015261	Intron	134078848	-1	tier1		no_errors	ENST00000534548	ensembl	human	known	74_37	splice_site_ins	9.38	29	3	INS	1.000:0.997	A	A	134078848	-	A	134078847	8	5	79	1	0	1	1	0	0	0	1	0	10245	1536	53	0	3819	0	NCAPD3	11	134078847	Splice_Site	INS	-	TCGA-L5-A8NE-01A-11D-A37C-09	30318	134078847	927669	205	20861											
KCNA1	3736	genome.wustl.edu	37	chr12	5021359	5021359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcacgctgggcaccgAgatagctgagcaggaaggaa	12	7	13	9	2	2	2	2	1	0	1	2	5	2	4	1	3	2	4	1	3	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:5021359A>G	ENST00000382545.3	+	2	1922	c.815A>G	c.(814-816)gAg>gGg	p.E272G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	272					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CTGGGCACCGAGATAGCTGAG	0.517																																																	0													71	74	73					12																	5021359		2203	4300	6503	SO:0001583	missense	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.815A>G	12.37:g.5021359A>G	ENSP00000371985:p.Glu272Gly		A6NM83|Q3MIQ9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.E272G	ENST00000382545.3	37	c.815	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669674	0.47677	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.98493	-4.96	4.97	4.97	0.65823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	L	0.58510	1.815	0.80722	D	1	B	0.14012	0.009	B	0.23716	0.048	D	0.95380	0.8472	10	0.59425	D	0.04	.	14.2907	0.66275	1.0:0.0:0.0:0.0	.	272	Q09470	KCNA1_HUMAN	G	272	ENSP00000371985:E272G	ENSP00000228858:E272G	E	+	2	0	KCNA1	4891620	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.021000	0.93673	2.209000	0.71365	0.533000	0.62120	GAG	KCNA1	-	pfam_Ion_trans_dom	ENSG00000111262		0.517	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	-	0	45	0	A	NM_000217		5021359	1	tier1	-	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	G	G	5021359	A	G	5021359	3	3	79	1	0	0	0	0	1	0	0	0	8028	304	11	4	817	4	KCNA1	12	5021359	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09		5021359	128830536	206	20862											
CLEC6A	93978	genome.wustl.edu	37	chr12	8629933	8629933	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattttggcacctaggtgAgcccaatcattctgcagagc	10	11	10	10	0	2	3	1	1	1	2	2	3	2	3	2	2	3	2	2	2	3	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:8629933A>T	ENST00000382073.3	+	6	689	c.503A>T	c.(502-504)gAg>gTg	p.E168V		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CACCTAGGTGAGCCCAATCAT	0.388																																																	0													155	146	149					12																	8629933		2203	4300	6503	SO:0001583	missense	0			AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"C-type lectin domain containing"	14556	protein-coding gene	gene with protein product		613579	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.503A>T	12.37:g.8629933A>T	ENSP00000371505:p.Glu168Val		A2RUK3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E168V	ENST00000382073.3	37	c.503	CCDS31739.1	12	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626553	0.28978	.	.	ENSG00000205846	ENST00000382073	T	0.21543	2.0	3.39	3.39	0.38822	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.35970	N	0.002873	T	0.50973	0.1647	M	0.92507	3.315	0.41129	D	0.985878	D	0.89917	1.0	D	0.91635	0.999	T	0.59627	-0.7419	10	0.87932	D	0	.	8.5056	0.33186	1.0:0.0:0.0:0.0	.	168	Q6EIG7	CLC6A_HUMAN	V	168	ENSP00000371505:E168V	ENSP00000371505:E168V	E	+	2	0	CLEC6A	8521200	0.403000	0.25319	0.794000	0.32065	0.007000	0.05969	2.466000	0.45084	1.784000	0.52394	0.533000	0.62120	GAG	CLEC6A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000205846		0.388	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC6A	HGNC	protein_coding	OTTHUMT00000400562.1	-	0	93	0	A	NM_001007033		8629933	1	tier1	-	no_errors	ENST00000382073	ensembl	human	known	74_37	missense	40.68	35	24	SNP	0.819	T	T	8629933	A	T	8629933	3	4	79	1	0	0	0	0	1	0	0	0	3527	304	11	5	525	5	CLEC6A	12	8629933	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	3608574	8629933	125221962	207	20863											
RIMKLB	57494	genome.wustl.edu	37	chr12	8902671	8902671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatggtgttcctctgcCggatactttctcttatggtg	4	16	11	10	1	2	0	0	0	2	0	4	1	3	1	3	4	2	1	3	4	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:8902671C>T	ENST00000538135.1	+	3	1214	c.389C>T	c.(388-390)cCg>cTg	p.P130L	RIMKLB_ENST00000535829.1_Missense_Mutation_p.P130L|RIMKLB_ENST00000357529.3_Missense_Mutation_p.P130L|RIMKLB_ENST00000299673.5_3'UTR			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	130	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTTCCTCTGCCGGATACTTTC	0.408																																																	0													80	74	76					12																	8902671		1883	4099	5982	SO:0001583	missense	0			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"N-acetylaspartyl-glutamate synthetase"	614054	"family with sequence similarity 80, member B"	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.389C>T	12.37:g.8902671C>T	ENSP00000440943:p.Pro130Leu		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.P130L	ENST00000538135.1	37	c.389	CCDS41748.1	12	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837768	0.91117	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.47	5.47	0.80525	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 1 (1);	0.073509	0.56097	N	0.000033	D	0.84633	0.5515	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71870	0.958;0.975	D	0.87456	0.2404	9	0.87932	D	0	.	17.8968	0.88891	0.0:1.0:0.0:0.0	.	130;130	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	L	130	.	ENSP00000350136:P130L	P	+	2	0	RIMKLB	8793938	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.392000	0.79840	2.571000	0.86741	0.591000	0.81541	CCG	RIMKLB	-	pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000166532		0.408	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1		0	75	0	C	NM_020734		8902671	1			no_errors	ENST00000357529	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	8902671	C	T	8902671	3	4	79	1	0	0	0	0	1	0	0	0	13411	652	23	1	395	1	RIMKLB	12	8902671	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	272738	8902671	124949224	208	20864											
PZP	5858	genome.wustl.edu	37	chr12	9312993	9312993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatagttcaagacatagatgTtaggagcaaataggaccatg	16	9	11	5	0	1	2	1	0	0	2	1	5	1	4	1	2	1	3	1	2	6	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:9312993T>C	ENST00000261336.2	-	24	2994	c.2966A>G	c.(2965-2967)aAc>aGc	p.N989S	PZP_ENST00000381997.2_Missense_Mutation_p.N775S|PZP_ENST00000539983.1_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	989					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GACATAGATGTTAGGAGCAAA	0.453																																					Melanoma(125;1402 1695 4685 34487 38571)												0													153	137	142					12																	9312993		2203	4300	6503	SO:0001583	missense	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2966A>G	12.37:g.9312993T>C	ENSP00000261336:p.Asn989Ser		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.N989S	ENST00000261336.2	37	c.2966	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	T	13.72	2.320544	0.41096	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.52526	0.66;0.66	4.46	4.46	0.54185	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);	0.148106	0.41938	U	0.000796	T	0.61974	0.2390	M	0.67953	2.075	0.35338	D	0.786247	D;P	0.61697	0.99;0.933	P;P	0.59825	0.864;0.718	T	0.74423	-0.3670	10	0.62326	D	0.03	.	13.7028	0.62620	0.0:0.0:0.0:1.0	.	775;989	P20742-2;P20742	.;PZP_HUMAN	S	989;775	ENSP00000261336:N989S;ENSP00000371427:N775S	ENSP00000261336:N989S	N	-	2	0	PZP	9204260	1.000000	0.71417	0.990000	0.47175	0.018000	0.09664	5.950000	0.70265	1.778000	0.52293	0.460000	0.39030	AAC	PZP	-	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000126838		0.453	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	-	0	65	0	T	NM_002864		9312993	-1	tier1	-	no_errors	ENST00000261336	ensembl	human	known	74_37	missense	36.07	39	22	SNP	1.000	C	C	9312993	T	C	9312993	3	2	79	1	0	0	0	0	1	0	0	0	12914	1725	60	4	1534	4	PZP	12	9312993	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	410322	9312993	124538902	209	20865											
KLRD1	3824	genome.wustl.edu	37	chr12	10464127	10464127	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactgttacttcatttcCagtgaacagaaaacttggaa	14	12	7	8	0	1	2	1	1	0	1	2	3	2	3	1	1	5	2	1	1	6	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:10464127C>A	ENST00000381907.4	+	5	430	c.228C>A	c.(226-228)tcC>tcA	p.S76S	KLRD1_ENST00000543777.1_Silent_p.S55S|KLRD1_ENST00000350274.5_Silent_p.S45S|KLRD1_ENST00000336164.4_Silent_p.S76S|KLRD1_ENST00000381908.3_Silent_p.S76S|KLRD1_ENST00000538997.1_3'UTR|KLRD1_ENST00000543420.1_Silent_p.S76S	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	76	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						ACTTCATTTCCAGTGAACAGA	0.448																																																	0													125	114	118					12																	10464127		2203	4300	6503	SO:0001819	synonymous_variant	0			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"Killer cell lectin-like receptors", "CD molecules"	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.228C>A	12.37:g.10464127C>A			O43321|O43773|Q9UBE3|Q9UEQ0	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S76	ENST00000381907.4	37	c.228	CCDS8621.1	12																																																																																			KLRD1	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000134539		0.448	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2		0	80	0	C	NM_002262		10464127	1			no_errors	ENST00000381908	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.067	A	A	10464127	C	A	10464127	2	1	79	1	0	0	0	0	0	0	0	1	8446	581	21	3		3	KLRD1	12	10464127	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	1151134	10464127	123387768	210	20866											
ABCC9	10060	genome.wustl.edu	37	chr12	22059129	22059129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttgtttcctccacacTtttgcagaaaatgtgttccc	8	16	5	12	0	1	1	0	0	1	1	4	1	4	1	3	0	1	3	3	0	2	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:22059129T>G	ENST00000261201.4	-	10	1548	c.1549A>C	c.(1549-1551)Agt>Cgt	p.S517R	ABCC9_ENST00000261200.4_Missense_Mutation_p.S517R|ABCC9_ENST00000345162.2_Missense_Mutation_p.S517R	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	517	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TCCTCCACACTTTTGCAGAAA	0.363																																																	0													170	152	158					12																	22059129		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.1549A>C	12.37:g.22059129T>G	ENSP00000261201:p.Ser517Arg		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S517R	ENST00000261201.4	37	c.1549	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	T	8.486	0.860980	0.17178	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	4.96	4.96	0.65561	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.222035	0.52532	D	0.000065	T	0.68348	0.2991	N	0.01751	-0.74	0.37448	D	0.914686	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.67401	-0.5680	10	0.09590	T	0.72	-15.715	14.8169	0.70041	0.0:0.0:0.0:1.0	.	517;517	O60706;O60706-2	ABCC9_HUMAN;.	R	517;180;517;517	ENSP00000261200:S517R;ENSP00000440521:S180R;ENSP00000261201:S517R;ENSP00000261202:S517R	ENSP00000261200:S517R	S	-	1	0	ABCC9	21950396	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.878000	0.56130	2.072000	0.62099	0.533000	0.62120	AGT	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000069431		0.363	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	63	0	T	NM_005691		22059129	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	23.91	35	11	SNP	1.000	G	G	22059129	T	G	22059129	3	3	79	1	0	0	0	0	1	0	0	0	59	1609	56	4	3358	4	ABCC9	12	22059129	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	11595002	22059129	111792766	211	20867											
ABCC9	10060	genome.wustl.edu	37	chr12	22069971	22069971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttgatatgtccaagccaGactgacagtacttaaccaat	13	11	8	9	0	0	3	0	2	0	1	1	3	1	3	3	1	3	2	3	1	5	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:22069971G>A	ENST00000261201.4	-	4	472	c.473C>T	c.(472-474)tCt>tTt	p.S158F	ABCC9_ENST00000261200.4_Missense_Mutation_p.S158F|ABCC9_ENST00000345162.2_Missense_Mutation_p.S158F	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	158					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTCCAAGCCAGACTGACAGTA	0.408																																																	0													190	184	186					12																	22069971		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.473C>T	12.37:g.22069971G>A	ENSP00000261201:p.Ser158Phe		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.S158F	ENST00000261201.4	37	c.473	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	3.052	-0.195221	0.06259	.	.	ENSG00000069431	ENST00000261200;ENST00000261201;ENST00000345162	D;D;D	0.97186	-4.28;-4.28;-4.28	5.09	-5.47	0.02600	.	2.648130	0.00757	N	0.001107	D	0.89532	0.6742	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.80848	-0.1199	10	0.59425	D	0.04	0.1269	0.429	0.00468	0.3187:0.2561:0.1279:0.2973	.	158;158	O60706;O60706-2	ABCC9_HUMAN;.	F	158	ENSP00000261200:S158F;ENSP00000261201:S158F;ENSP00000261202:S158F	ENSP00000261200:S158F	S	-	2	0	ABCC9	21961238	0.002000	0.14202	0.021000	0.16686	0.008000	0.06430	0.532000	0.23067	-0.586000	0.05898	-0.852000	0.03032	TCT	ABCC9	-	NULL	ENSG00000069431		0.408	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	64	0	G	NM_005691		22069971	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	20.45	35	9	SNP	0.000	A	A	22069971	G	A	22069971	3	1	79	1	0	0	0	0	1	0	0	0	59	942	33	3	4458	3	ABCC9	12	22069971	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	10842	22069971	111781924	212	20868											
ALG10B	144245	genome.wustl.edu	37	chr12	38714844	38714844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactgctggaatttcgttaCttcattttaccttatgtcat	10	18	5	8	1	2	0	2	0	0	0	3	1	2	1	1	1	4	2	1	1	5	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:38714844C>T	ENST00000308742.4	+	3	1567	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	417					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AATTTCGTTACTTCATTTTAC	0.328																																																	0													193	193	193					12																	38714844		2203	4300	6503	SO:0001819	synonymous_variant	0			AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"potassium channel regulator 1", "dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"		"asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1251C>T	12.37:g.38714844C>T			B2RPF4	Silent	SNP	pfam_Alg10,pirsf_Alg10	p.Y417	ENST00000308742.4	37	c.1251	CCDS31772.1	12																																																																																			ALG10B	-	pfam_Alg10,pirsf_Alg10	ENSG00000175548		0.328	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG10B	HGNC	protein_coding	OTTHUMT00000403349.1	-	0	82	0	C	NM_001013620		38714844	1	tier1	-	no_errors	ENST00000308742	ensembl	human	known	74_37	silent	69.77	13	30	SNP	1.000	T	T	38714844	C	T	38714844	2	4	79	1	0	0	0	0	0	0	0	1	512	576	20	3		3	ALG10B	12	38714844	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	16644873	38714844	95137051	213	20869											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43886311	43886311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttctataatcatacctaGtgataagaacagcagtgtca	15	13	6	7	0	3	2	2	1	1	1	3	2	3	2	1	0	3	1	1	0	7	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:43886311G>T	ENST00000389420.3	-	6	1072	c.1073C>A	c.(1072-1074)aCt>aAt	p.T358N	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T358N	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	358	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATCATACCTAGTGATAAGAAC	0.373																																																	0													145	124	131					12																	43886311		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1073C>A	12.37:g.43886311G>T	ENSP00000374071:p.Thr358Asn		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T358N	ENST00000389420.3	37	c.1073	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404142	0.62288	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.90385	-2.66;-2.66	4.69	4.69	0.59074	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.50627	D	0.000108	D	0.97126	0.9061	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98498	1.0613	10	0.87932	D	0	.	18.4952	0.90863	0.0:0.0:1.0:0.0	.	358	P59510	ATS20_HUMAN	N	358	ENSP00000374071:T358N;ENSP00000448341:T358N	ENSP00000374068:T358N	T	-	2	0	ADAMTS20	42172578	1.000000	0.71417	0.988000	0.46212	0.252000	0.25951	9.136000	0.94489	2.529000	0.85273	0.557000	0.71058	ACT	ADAMTS20	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000173157		0.373	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	61	0	G	NM_025003		43886311	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	43886311	G	T	43886311	3	4	79	1	0	0	0	0	1	0	0	0	266	1029	36	3	4794	3	ADAMTS20	12	43886311	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	5171467	43886311	89965584	214	20870											
SFRS2IP	9169	genome.wustl.edu	37	chr12	46322278	46322278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatctactgaatcattGgaagatgatttttcaggggc	10	15	9	7	0	5	3	3	2	2	1	5	4	5	4	0	3	1	0	0	3	3	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:46322278G>A	ENST00000369367.3	-	11	1439	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	SCAF11_ENST00000549162.1_Silent_p.S210S|SCAF11_ENST00000419565.2_Silent_p.S402S|SCAF11_ENST00000465950.1_Silent_p.S87S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	402					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGAATCATTGGAAGATGATT	0.418																																																	0													124	117	120					12																	46322278		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"RING-type (C3HC4) zinc fingers"	10784	protein-coding gene	gene with protein product		603668	"splicing factor, arginine/serine-rich 2, interacting protein", "serine/arginine-rich splicing factor 2, interacting protein"	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1206C>T	12.37:g.46322278G>A			A6NEU9|A6NLW5|Q8IW59	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S402	ENST00000369367.3	37	c.1206	CCDS8748.2	12																																																																																			SCAF11	-	NULL	ENSG00000139218		0.418	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2		0	63	0	G	NM_004719		46322278	-1			no_errors	ENST00000369367	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.984	A	A	46322278	G	A	46322278	2	1	79	1	0	0	0	0	0	0	0	1	14222	1335	47	3		3	SFRS2IP	12	46322278	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2435967	46322278	87529617	215	20871											
NACA	4666	genome.wustl.edu	37	chr12	57106968	57106968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgcttgctgggataaatCttcgatctacagggtagaaa	11	13	11	6	1	2	1	0	0	2	1	3	3	2	2	0	2	3	3	0	2	5	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:57106968C>T	ENST00000454682.1	-	7	6258	c.5977G>A	c.(5977-5979)Gat>Aat	p.D1993N	NACA_ENST00000550952.1_Missense_Mutation_p.D840N|NACA_ENST00000552540.1_Missense_Mutation_p.D130N|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000548563.1_Missense_Mutation_p.D51N|NACA_ENST00000356769.3_Missense_Mutation_p.D130N|NACA_ENST00000393891.4_Missense_Mutation_p.D130N|NACA_ENST00000546392.1_Missense_Mutation_p.D130N	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1993	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGATAAATCTTCGATCTAC	0.383			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													54	50	51					12																	57106968		2203	4300	6503	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5977G>A	12.37:g.57106968C>T	ENSP00000403817:p.Asp1993Asn			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.D1993N	ENST00000454682.1	37	c.5977		12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539714	0.85917	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000548563;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000546862	T;T;T;T;T;T;T;T;T	0.69175	0.33;-0.08;-0.38;0.34;0.34;0.34;0.34;0.24;0.16	5.31	5.31	0.75309	Nascent polypeptide-associated complex NAC (2);	0.051063	0.85682	D	0.000000	D	0.82926	0.5143	M	0.83852	2.665	0.80722	D	1	P;D;B	0.69078	0.743;0.997;0.124	D;D;B	0.69824	0.916;0.966;0.09	D	0.84668	0.0710	10	0.54805	T	0.06	.	17.7494	0.88430	0.0:1.0:0.0:0.0	.	1993;840;130	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	N	128;1993;840;130;130;130;51;130;130;126;51	ENSP00000448039:D128N;ENSP00000403817:D1993N;ENSP00000448035:D840N;ENSP00000349212:D130N;ENSP00000447821:D130N;ENSP00000377469:D130N;ENSP00000446801:D130N;ENSP00000447133:D130N;ENSP00000450383:D126N	ENSP00000349212:D130N	D	-	1	0	NACA	55393235	1.000000	0.71417	0.948000	0.38648	0.291000	0.27294	7.593000	0.82686	2.491000	0.84063	0.557000	0.71058	GAT	NACA	-	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	ENSG00000196531		0.383	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0	84	0	C	NM_005594		57106968	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	41.57	52	37	SNP	1.000	T	T	57106968	C	T	57106968	3	4	79	1	0	0	0	0	1	0	0	0	10171	913	32	3	271	3	NACA	12	57106968	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	10784690	57106968	76744927	216	20872											
CPM	1368	genome.wustl.edu	37	chr12	69252767	69252767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catatttgttggttctatagGggcagatatgttttctgtct	7	19	10	5	0	3	1	0	0	3	1	3	1	3	1	0	3	0	4	0	3	4	9			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:69252767G>A	ENST00000551568.1	-	8	1085	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	CPM_ENST00000338356.3_Missense_Mutation_p.P342L|CPM_ENST00000546373.1_Missense_Mutation_p.P342L	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	342					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GGTTCTATAGGGGCAGATATG	0.333																																																	0													106	104	104					12																	69252767		2203	4299	6502	SO:0001583	missense	0			AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"renal carboxypeptidase", "urinary carboxypeptidase B"	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1025C>T	12.37:g.69252767G>A	ENSP00000448517:p.Pro342Leu		B2R800|Q9H2K9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.P342L	ENST00000551568.1	37	c.1025	CCDS8987.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.601122|4.601122	0.87055|0.87055	.|.	.|.	ENSG00000135678|ENSG00000135678	ENST00000551568;ENST00000338356;ENST00000546373|ENST00000551897	T;T;T|T	0.42513|0.38401	0.97;0.97;0.97|1.14	5.51|5.51	5.51|5.51	0.81932|0.81932	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);|.	0.053425|0.053425	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.57125|0.57125	0.2032|0.2032	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	P|.	0.48834|.	0.916|.	P|.	0.57720|.	0.826|.	T|T	0.52480|0.52480	-0.8570|-0.8570	9|7	.|.	.|.	.|.	-16.281|-16.281	19.4019|19.4019	0.94634|0.94634	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	342|.	P14384|.	CBPM_HUMAN|.	L|S	342|145	ENSP00000448517:P342L;ENSP00000339157:P342L;ENSP00000447255:P342L|ENSP00000447455:P145S	.|.	P|P	-|-	2|1	0|0	CPM|CPM	67539034|67539034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	8.477000|8.477000	0.90424|0.90424	2.765000|2.765000	0.95021|0.95021	0.557000|0.557000	0.71058|0.71058	CCC|CCT	CPM	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000135678		0.333	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPM	HGNC	protein_coding	OTTHUMT00000403355.1	-	0	101	0	G	NM_198320		69252767	-1	tier1	-	no_errors	ENST00000338356	ensembl	human	known	74_37	missense	8.84	536	52	SNP	1.000	A	A	69252767	G	A	69252767	3	1	79	1	0	0	0	0	1	0	0	0	3815	1232	43	3	314	3	CPM	12	69252767	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	12145799	69252767	64599128	217	20873											
GLIPR1	11010	genome.wustl.edu	37	chr12	75884283	75884283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggagcacattttatatGcaactacggaccagggtaag	14	9	10	8	1	0	0	0	0	0	0	0	2	0	2	1	3	4	3	1	3	6	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:75884283G>C	ENST00000266659.3	+	3	719	c.518G>C	c.(517-519)tGc>tCc	p.C173S	RP11-585P4.5_ENST00000547326.1_RNA	NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	173	SCP.				cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CATTTTATATGCAACTACGGA	0.443																																																	0													86	81	83					12																	75884283		2203	4300	6503	SO:0001583	missense	0			U16307	CCDS9011.1	12q14.1	2008-08-15	2008-08-15			ENSG00000139278			17001	protein-coding gene	gene with protein product		602692	"GLI pathogenesis-related 1 (glioma)"			7607567, 8973356	Standard	NM_006851		Approved	RTVP1, GliPR	uc001sxs.3	P48060	OTTHUMG00000169757	ENST00000266659.3:c.518G>C	12.37:g.75884283G>C	ENSP00000266659:p.Cys173Ser		A7YET6|F8VUC2|Q15409|Q969K2	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.C173S	ENST00000266659.3	37	c.518	CCDS9011.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.980226|3.980226	0.74474|0.74474	.|.	.|.	ENSG00000139278|ENSG00000139278	ENST00000456650;ENST00000550491|ENST00000266659	T|T	0.14640|0.68765	2.49|-0.35	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89399|0.89399	0.6704|0.6704	H|H	0.98559|0.98559	4.265|4.265	0.80722|0.80722	D|D	1|1	D|D	0.76494|0.89917	0.999|1.0	D|D	0.69142|0.91635	0.962|0.999	D|D	0.93230|0.93230	0.6616|0.6616	9|10	0.87932|0.87932	D|D	0|0	.|.	17.824|17.824	0.88658|0.88658	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	197|173	F6VVE8|P48060	.|GLIP1_HUMAN	P|S	197;56|173	ENSP00000391144:A197P|ENSP00000266659:C173S	ENSP00000391144:A197P|ENSP00000266659:C173S	A|C	+|+	1|2	0|0	GLIPR1|GLIPR1	74170550|74170550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.880000|7.880000	0.87243|0.87243	2.638000|2.638000	0.89438|0.89438	0.655000|0.655000	0.94253|0.94253	GCA|TGC	GLIPR1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000139278		0.443	GLIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIPR1	HGNC	protein_coding	OTTHUMT00000405722.1	-	0	75	0	G	NM_006851		75884283	1	tier1	-	no_errors	ENST00000266659	ensembl	human	known	74_37	missense	63.89	13	23	SNP	1.000	C	C	75884283	G	C	75884283	3	2	79	1	0	0	0	0	1	0	0	0	6467	1319	46	5	528	5	GLIPR1	12	75884283	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	6631516	75884283	57967612	218	20874											
PLXNC1	10154	genome.wustl.edu	37	chr12	94562964	94562964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaaagagtccaaccaatCgcatcatctaccttgatcca	13	9	5	14	1	2	3	1	2	1	1	5	3	4	3	5	0	2	1	5	0	4	2	rs141950146		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:94562964C>T	ENST00000258526.4	+	2	1347	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	RP11-74K11.2_ENST00000551029.1_RNA|RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	366	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCCAACCAATCGCATCATCTA	0.398																																																	0													183	143	157					12																	94562964		2203	4300	6503	SO:0001819	synonymous_variant	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1098C>T	12.37:g.94562964C>T			Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.I366	ENST00000258526.4	37	c.1098	CCDS9049.1	12																																																																																			PLXNC1	-	superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000136040		0.398	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	-	0	120	0	C			94562964	1	tier1	-	no_errors	ENST00000258526	ensembl	human	known	74_37	silent	65.79	26	50	SNP	0.700	T	T	94562964	C	T	94562964	2	4	79	1	0	0	0	0	0	0	0	1	12165	874	31	1		1	PLXNC1	12	94562964	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	18678681	94562964	39288931	219	20875											
CCDC38	120935	genome.wustl.edu	37	chr12	96310928	96310928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctattaatctaggaatcgGagcaggacctggcccaaact	12	10	9	10	1	2	0	0	0	2	0	3	3	2	3	2	4	2	1	2	4	5	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:96310928G>T	ENST00000344280.3	-	4	840	c.283C>A	c.(283-285)Ccg>Acg	p.P95T	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	95										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTAGGAATCGGAGCAGGACCT	0.383																																																	0													81	78	79					12																	96310928		2203	4300	6503	SO:0001583	missense	0			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.283C>A	12.37:g.96310928G>T	ENSP00000345470:p.Pro95Thr		Q8N835	Missense_Mutation	SNP	NULL	p.P95T	ENST00000344280.3	37	c.283	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	G	3.532	-0.095425	0.07010	.	.	ENSG00000165972	ENST00000344280;ENST00000546947	T	0.28069	1.63	5.54	3.63	0.41609	.	0.083607	0.46442	D	0.000288	T	0.16085	0.0387	N	0.14661	0.345	0.19300	N	0.999974	B	0.18166	0.026	B	0.15052	0.012	T	0.18587	-1.0332	10	0.12430	T	0.62	-6.5776	11.3472	0.49567	0.0:0.0:0.6734:0.3266	.	95	Q502W7	CCD38_HUMAN	T	95;55	ENSP00000345470:P95T	ENSP00000345470:P95T	P	-	1	0	CCDC38	94835059	0.094000	0.21725	0.014000	0.15608	0.000000	0.00434	1.208000	0.32345	1.563000	0.49615	-0.175000	0.13238	CCG	CCDC38	-	NULL	ENSG00000165972		0.383	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1		0	125	0	G	NM_182496		96310928	-1			no_errors	ENST00000344280	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.011	T	T	96310928	G	T	96310928	3	4	79	1	0	0	0	0	1	0	0	0	2817	1174	41	3	1460	3	CCDC38	12	96310928	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1747964	96310928	37540967	220	20876											
WSCD2	9671	genome.wustl.edu	37	chr12	108620910	108620910	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagctgcgggactcctagTtacttcattgtgtaccagac	9	11	11	10	1	1	2	1	0	0	2	2	4	2	3	2	1	4	3	2	1	3	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:108620910T>G	ENST00000332082.4	+	7	1766	c.948T>G	c.(946-948)agT>agG	p.S316R	WSCD2_ENST00000549903.1_Missense_Mutation_p.S316R|WSCD2_ENST00000261400.3_Missense_Mutation_p.S316R|WSCD2_ENST00000547525.1_Missense_Mutation_p.S316R			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	316	WSC 2. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGACTCCTAGTTACTTCATTG	0.587																																																	0													60	64	63					12																	108620910		2040	4190	6230	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.948T>G	12.37:g.108620910T>G	ENSP00000331933:p.Ser316Arg		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.S316R	ENST00000332082.4	37	c.948	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501326	0.26861	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.31247	1.51;1.5;1.51;1.5	5.22	-2.16	0.07080	Carbohydrate-binding WSC (1);Carbohydrate-binding WSC, subgroup (1);	0.466207	0.25439	N	0.030670	T	0.12860	0.0312	N	0.14661	0.345	0.22771	N	0.998758	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.21245	-1.0251	10	0.21014	T	0.42	-3.6873	6.6502	0.22957	0.0:0.4235:0.2586:0.3178	.	316;316	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	R	316	ENSP00000448047:S316R;ENSP00000261400:S316R;ENSP00000331933:S316R;ENSP00000447272:S316R	ENSP00000261400:S316R	S	+	3	2	WSCD2	107145040	0.525000	0.26290	0.925000	0.36789	0.996000	0.88848	-0.307000	0.08167	-0.321000	0.08627	0.533000	0.62120	AGT	WSCD2	-	superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	ENSG00000075035		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	-	0	44	0	T	NM_014653		108620910	1	tier1	-	no_errors	ENST00000261400	ensembl	human	known	74_37	missense	56.52	10	13	SNP	0.798	G	G	108620910	T	G	108620910	3	3	79	1	0	0	0	0	1	0	0	0	17456	1722	60	4	966	4	WSCD2	12	108620910	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	12309982	108620910	25230985	221	20877											
ALKBH2	121642	genome.wustl.edu	37	chr12	109526081	109526081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagaaccttctttctcacgGgaagactgtggtaccagtgc	9	10	10	12	1	2	2	1	0	2	2	3	3	2	3	3	2	3	1	3	2	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:109526081G>C	ENST00000429722.2	-	4	1079	c.716C>G	c.(715-717)cCc>cGc	p.P239R	ALKBH2_ENST00000343075.3_Missense_Mutation_p.P239R|ALKBH2_ENST00000440112.2_3'UTR	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	239	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CTTTCTCACGGGAAGACTGTG	0.483								Direct reversal of damage																																									0													116	117	117					12																	109526081		2203	4300	6503	SO:0001583	missense	0			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"Alkylation repair homologs"	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.716C>G	12.37:g.109526081G>C	ENSP00000398181:p.Pro239Arg		A4PET2|Q5XLE3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.P239R	ENST00000429722.2	37	c.716	CCDS31897.1	12	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838751	0.71373	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370	T;T	0.16743	2.32;2.32	5.62	5.62	0.85841	Oxoglutarate/iron-dependent oxygenase (2);	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	M	0.79343	2.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44636	-0.9315	10	0.87932	D	0	-23.3927	18.6495	0.91425	0.0:0.0:1.0:0.0	.	239	Q6NS38	ALKB2_HUMAN	R	239	ENSP00000398181:P239R;ENSP00000343021:P239R	ENSP00000343021:P239R	P	-	2	0	ALKBH2	108010464	1.000000	0.71417	0.845000	0.33349	0.415000	0.31203	9.198000	0.94994	2.633000	0.89246	0.655000	0.94253	CCC	ALKBH2	-	pfam_Oxoglu/Fe-dep_dioxygenase	ENSG00000189046		0.483	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALKBH2	HGNC	protein_coding	OTTHUMT00000403063.2	-	0	79	0	G	NM_001001655		109526081	-1	tier1	-	no_errors	ENST00000343075	ensembl	human	known	74_37	missense	46.67	16	14	SNP	1.000	C	C	109526081	G	C	109526081	3	2	79	1	0	0	0	0	1	0	0	0	527	1232	43	5	73	5	ALKBH2	12	109526081	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	905171	109526081	24325814	222	20878											
FBXO21	23014	genome.wustl.edu	37	chr12	117604812	117604812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgatcaagtactcgcattCtttcactgtcagctgcttgc	7	13	8	13	2	4	0	3	0	1	0	5	1	4	0	1	0	4	4	1	0	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:117604812C>T	ENST00000330622.5	-	8	1083	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	FBXO21_ENST00000427718.2_Missense_Mutation_p.E362K			O94952	FBX21_HUMAN	F-box protein 21	362					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TACTCGCATTCTTTCACTGTC	0.478																																					GBM(168;452 2038 13535 17701 43680)												0													179	147	157					12																	117604812		2203	4300	6503	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1084G>A	12.37:g.117604812C>T	ENSP00000328187:p.Glu362Lys		B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom	p.E362K	ENST00000330622.5	37	c.1084	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.777481	0.96929	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000330622;ENST00000548840	T;T	0.48201	0.83;0.82	5.93	5.93	0.95920	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.74160	0.3680	M	0.86502	2.82	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.991	T	0.72475	-0.4282	10	0.35671	T	0.21	-11.2355	20.3539	0.98825	0.0:1.0:0.0:0.0	.	362;362	O94952;O94952-1	FBX21_HUMAN;.	K	362;278;362;14	ENSP00000414468:E362K;ENSP00000328187:E362K	ENSP00000257563:E278K	E	-	1	0	FBXO21	116089195	1.000000	0.71417	0.772000	0.31596	0.980000	0.70556	7.433000	0.80362	2.826000	0.97356	0.655000	0.94253	GAA	FBXO21	-	superfamily_F-box_dom	ENSG00000135108		0.478	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	-	0	81	0	C	NM_033624		117604812	-1	tier1	-	no_errors	ENST00000330622	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	T	T	117604812	C	T	117604812	3	4	79	1	0	0	0	0	1	0	0	0	5755	922	32	3	822	3	FBXO21	12	117604812	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	8078731	117604812	16247083	223	20879											
HIP1R	9026	genome.wustl.edu	37	chr12	123335423	123335423	+	Frame_Shift_Del	DEL	A	A	-																															ctggaggtgacagatgaggtActggagaaggcagctgggac																								rs201745943		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:123335423delA	ENST00000253083.4	+	6	605	c.480delA	c.(478-480)gtafs	p.V160fs		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	160					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGATGAGGTACTGGAGAAGG	0.627																																																	0													86	70	75					12																	123335423		2203	4300	6503	SO:0001589	frameshift_variant	0			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.480delA	12.37:g.123335423delA	ENSP00000253083:p.Val160fs		A6NHQ6|Q6NXG8|Q9UED9	Frame_Shift_Del	DEL	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.L161fs	ENST00000253083.4	37	c.480	CCDS31922.1	12																																																																																			HIP1R	-	pfam_ANTH_dom	ENSG00000130787		0.627	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1		0	27	0	A	NM_003959		123335423	1	tier1		no_errors	ENST00000253083	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.467	-	-	123335423	A	-	123335423	7	5	79	1	0	1	0	1	0	0	0	0	7142	378	14	0	502	0	HIP1R	12	123335423	Frame_Shift_Del	DEL	A	TCGA-L5-A8NE-01A-11D-A37C-09	5730611	123335423	10516472	224	20880											
DNAH10	196385	genome.wustl.edu	37	chr12	124319972	124319972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggatgttggttcagaGaaaatggatgtatcttgaaa	13	14	12	2	0	2	2	1	1	1	1	2	6	2	4	0	3	0	3	0	3	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:124319972G>T	ENST00000409039.3	+	27	4470	c.4445G>T	c.(4444-4446)aGa>aTa	p.R1482I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1482	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R74I(1)|p.R1482I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGGTTCAGAGAAAATGGATG	0.378																																																	2	Substitution - Missense(2)	large_intestine(2)											124	111	115					12																	124319972		1873	4108	5981	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4445G>T	12.37:g.124319972G>T	ENSP00000386770:p.Arg1482Ile		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R1482I	ENST00000409039.3	37	c.4445	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228404	0.79576	.	.	ENSG00000197653	ENST00000409039	T	0.64618	-0.11	5.69	5.69	0.88448	Dynein heavy chain, domain-2 (1);	0.073622	0.52532	U	0.000069	D	0.84547	0.5496	M	0.93150	3.385	0.80722	D	1	D	0.56746	0.977	D	0.65323	0.934	D	0.87870	0.2670	10	0.72032	D	0.01	.	19.8155	0.96566	0.0:0.0:1.0:0.0	.	1482	Q8IVF4	DYH10_HUMAN	I	1482	ENSP00000386770:R1482I	ENSP00000386770:R1482I	R	+	2	0	DNAH10	122885925	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.396000	0.73234	2.682000	0.91365	0.650000	0.86243	AGA	DNAH10	-	pfam_Dynein_heavy_dom-2	ENSG00000197653		0.378	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	92	0	G			124319972	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	124319972	G	T	124319972	3	4	79	1	0	0	0	0	1	0	0	0	4612	942	33	3	4551	3	DNAH10	12	124319972	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	984549	124319972	9531923	225	20881											
RIMBP2	23504	genome.wustl.edu	37	chr12	130907016	130907016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgatggatgggactgtcaCgggccgggacctctgaggac	8	6	16	11	3	2	1	1	1	1	0	2	6	2	5	3	5	0	0	3	5	0	0	rs372504138		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr12:130907016C>T	ENST00000261655.4	-	13	2615	c.2452G>A	c.(2452-2454)Gtg>Atg	p.V818M	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	818					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGACTGTCACGGGCCGGGAC	0.567																																																	0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	53	44	47		2452	-2.8	0	12		47	0,8600		0,0,4300	no	missense	RIMBP2	NM_015347.4	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	818/1053	130907016	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2452G>A	12.37:g.130907016C>T	ENSP00000261655:p.Val818Met		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.V818M	ENST00000261655.4	37	c.2452	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	5.958	0.360753	0.11296	2.27E-4	0.0	ENSG00000060709	ENST00000261655	T	0.19250	2.16	4.2	-2.85	0.05734	.	3.622840	0.00616	N	0.000436	T	0.06600	0.0169	N	0.00538	-1.39	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.29671	-1.0004	10	0.27785	T	0.31	-0.2162	8.6791	0.34198	0.0:0.1354:0.1316:0.7331	.	818	O15034	RIMB2_HUMAN	M	818	ENSP00000261655:V818M	ENSP00000261655:V818M	V	-	1	0	RIMBP2	129472969	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.018000	0.13422	-0.431000	0.07307	-0.367000	0.07326	GTG	RIMBP2	-	NULL	ENSG00000060709		0.567	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	48	0	C	NM_015347		130907016	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	71.43	4	10	SNP	0.019	T	T	130907016	C	T	130907016	3	4	79	1	0	0	0	0	1	0	0	0	13408	536	19	1	734	1	RIMBP2	12	130907016	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	6587044	130907016	2944879	226	20882											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751617	19751617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggggctgggtaaatggcaAattctagcttggacttcttg	8	12	15	6	0	2	0	0	0	2	0	2	1	2	1	0	6	1	4	0	6	4	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:19751617A>C	ENST00000400113.3	-	4	610	c.506T>G	c.(505-507)tTt>tGt	p.F169C		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	169					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTAAATGGCAAATTCTAGCTT	0.572																																																	0													133	137	136					13																	19751617		2203	4300	6503	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.506T>G	13.37:g.19751617A>C	ENSP00000382982:p.Phe169Cys		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.F169C	ENST00000400113.3	37	c.506	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	a	7.602	0.672940	0.14776	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.72167	-0.63	1.19	1.19	0.21007	.	0.000000	0.49916	U	0.000136	T	0.72471	0.3464	.	.	.	0.40262	D	0.978187	.	.	.	.	.	.	T	0.72808	-0.4181	7	0.87932	D	0	.	6.5194	0.22266	1.0:0.0:0.0:0.0	.	.	.	.	C	169	ENSP00000382982:F169C	ENSP00000354037:F169C	F	-	2	0	TUBA3C	18649617	1.000000	0.71417	0.988000	0.46212	0.275000	0.26752	7.511000	0.81718	0.801000	0.34066	0.136000	0.15936	TTT	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin	ENSG00000198033		0.572	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	85	0	A	NM_006001		19751617	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	44.44	30	24	SNP	1.000	C	C	19751617	A	C	19751617	3	2	79	1	0	0	0	0	1	0	0	0	16795	14	1	4	854	4	TUBA3C	13	19751617	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09		19751617	95418261	227	20883											
SLC46A3	283537	genome.wustl.edu	37	chr13	29275093	29275093	+	3'UTR	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatagcagcttaacaggcTctataaaataaagcattacc	17	10	5	9	0	2	0	1	0	1	0	2	0	2	0	1	1	5	4	1	1	9	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:29275093T>A	ENST00000266943.6	-	0	2296				SLC46A3_ENST00000380814.4_Splice_Site_p.R461S|RNU6-53P_ENST00000365367.1_RNA|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CTTAACAGGCTCTATAAAATA	0.299																																																	0													76	66	69					13																	29275093		692	1588	2280	SO:0001624	3_prime_UTR_variant	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.*541A>T	13.37:g.29275093T>A			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R461S	ENST00000266943.6	37	c.1383	CCDS9332.1	13	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397349	0.62177	.	.	ENSG00000139508	ENST00000380814	T	0.49432	0.78	4.76	4.76	0.60689	.	0.848976	0.10350	N	0.685202	T	0.37812	0.1017	.	.	.	0.09310	N	0.999999	B	0.11235	0.004	B	0.06405	0.002	T	0.17899	-1.0354	9	0.48119	T	0.1	.	10.8467	0.46746	0.0:0.0:0.0:1.0	.	461	Q7Z3Q1-2	.	S	461	ENSP00000370192:R461S	ENSP00000370192:R461S	R	-	3	2	SLC46A3	28173093	0.004000	0.15560	0.247000	0.24249	0.089000	0.18198	0.937000	0.28951	2.134000	0.65973	0.533000	0.62120	AGA	SLC46A3	-	NULL	ENSG00000139508		0.299	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	-	0	73	0	T	NM_181785		29275093	-1	tier1	-	no_errors	ENST00000380814	ensembl	human	novel	74_37	missense	45.95	40	34	SNP	0.207	A	A	29275093	T	A	29275093	1	1	79	0	1	0	0	0	0	0	0	0	14691	1565	54	5		5	SLC46A3	13	29275093	3'UTR	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	9523476	29275093	85894785	228	20884											
USPL1	10208	genome.wustl.edu	37	chr13	31233169	31233169	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctgtttcaacagagctGtcagaaaatggggaaggtga	14	8	12	7	0	2	3	2	1	0	2	2	4	2	4	1	3	2	2	1	3	4	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:31233169G>T	ENST00000255304.4	+	9	3297	c.2955G>T	c.(2953-2955)ctG>ctT	p.L985L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	985					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAACAGAGCTGTCAGAAAATG	0.433																																					Ovarian(60;318 1180 1554 28110 31601)												0													128	125	126					13																	31233169		2203	4300	6503	SO:0001819	synonymous_variant	0			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 22"	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2955G>T	13.37:g.31233169G>T			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19/C67	p.L985	ENST00000255304.4	37	c.2955	CCDS9336.1	13																																																																																			USPL1	-	NULL	ENSG00000132952		0.433	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	-	0	61	0	G	NM_005800		31233169	1	tier1	-	no_errors	ENST00000255304	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.062	T	T	31233169	G	T	31233169	2	4	79	1	0	0	0	0	0	0	0	1	17141	1364	48	3		3	USPL1	13	31233169	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1958076	31233169	83936709	229	20885											
NBEA	26960	genome.wustl.edu	37	chr13	35615243	35615243	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttacagactagcacagaAgttgggctaattgaacaagt	16	10	9	6	0	0	3	0	1	0	2	0	3	0	3	0	1	3	3	0	1	7	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:35615243A>C	ENST00000400445.3	+	2	1002	c.468A>C	c.(466-468)gaA>gaC	p.E156D	NBEA_ENST00000310336.4_Missense_Mutation_p.E156D|NBEA_ENST00000540320.1_Missense_Mutation_p.E156D|NBEA_ENST00000379939.2_Missense_Mutation_p.E156D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	156					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGCACAGAAGTTGGGCTAA	0.383																																																	0													75	70	71					13																	35615243		1893	4133	6026	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.468A>C	13.37:g.35615243A>C	ENSP00000383295:p.Glu156Asp		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.E156D	ENST00000400445.3	37	c.468	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748342	0.69533	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.58109	-0.7694	10	0.37606	T	0.19	.	15.5012	0.75700	1.0:0.0:0.0:0.0	.	156	Q5T321	.	D	156	ENSP00000440951:E156D;ENSP00000383295:E156D;ENSP00000369271:E156D;ENSP00000308534:E156D	ENSP00000308534:E156D	E	+	3	2	NBEA	34513243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.760000	0.55235	2.058000	0.61347	0.477000	0.44152	GAA	NBEA	-	NULL	ENSG00000172915		0.383	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	66	0	A	NM_015678		35615243	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	31.82	45	21	SNP	1.000	C	C	35615243	A	C	35615243	3	2	79	1	0	0	0	0	1	0	0	0	10225	69	3	4	474	4	NBEA	13	35615243	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	4382074	35615243	79554635	230	20886											
ZC3H13	23091	genome.wustl.edu	37	chr13	46549566	46549566	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttctctcgctctttctcGttcccgttctcgctctcgct	0	18	5	18	5	5	0	0	0	5	0	11	0	6	0	2	0	0	5	2	0	0	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:46549566G>A	ENST00000242848.4	-	12	2668	c.2320C>T	c.(2320-2322)Cga>Tga	p.R774*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R774*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	774	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		gctctttctcgttcccgttct	0.512																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													349	271	297					13																	46549566		2203	4300	6503	SO:0001587	stop_gained	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2320C>T	13.37:g.46549566G>A	ENSP00000242848:p.Arg774*		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R774*	ENST00000242848.4	37	c.2320		13	.	.	.	.	.	.	.	.	.	.	G	41	8.836150	0.98972	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	4.72	1.86	0.25419	.	0.000000	0.44285	D	0.000480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	13.6588	0.62354	0.0:0.0:0.2808:0.7192	.	.	.	.	X	774	.	ENSP00000242848:R774X	R	-	1	2	ZC3H13	45447567	0.999000	0.42202	0.990000	0.47175	0.974000	0.67602	0.668000	0.25127	0.152000	0.19188	0.467000	0.42956	CGA	ZC3H13	-	NULL	ENSG00000123200		0.512	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0	97	0	G	NM_015070		46549566	-1			no_errors	ENST00000242848	ensembl	human	known	74_37	nonsense	5.06	75	4	SNP	0.993	A	A	46549566	G	A	46549566	4	1	79	1	0	0	0	0	0	1	0	0	17613	1153	40	1	2398	1	ZC3H13	13	46549566	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	10934323	46549566	68620312	231	20887											
OLFM4	10562	genome.wustl.edu	37	chr13	53624487	53624487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgctgcctataataacCgcttttcatatgctaatgtt	11	16	5	9	1	1	0	1	0	0	0	1	0	1	0	2	0	4	4	2	0	6	9			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:53624487C>A	ENST00000219022.2	+	5	1192	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	372	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CTATAATAACCGCTTTTCATA	0.423																																																	0													220	217	218					13																	53624487		2203	4300	6503	SO:0001583	missense	0			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1114C>A	13.37:g.53624487C>A	ENSP00000219022:p.Arg372Ser		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	p.R372S	ENST00000219022.2	37	c.1114	CCDS9440.1	13	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843890	0.71488	.	.	ENSG00000102837	ENST00000219022	D	0.88818	-2.43	5.92	5.92	0.95590	Olfactomedin-like (3);	0.199304	0.53938	D	0.000049	D	0.94847	0.8335	M	0.80982	2.52	0.45205	D	0.998212	D	0.69078	0.997	D	0.72338	0.977	D	0.94030	0.7300	10	0.51188	T	0.08	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	372	Q6UX06	OLFM4_HUMAN	S	372	ENSP00000219022:R372S	ENSP00000219022:R372S	R	+	1	0	OLFM4	52522488	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.762000	0.47597	2.801000	0.96364	0.650000	0.86243	CGC	OLFM4	-	pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like	ENSG00000102837		0.423	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFM4	HGNC	protein_coding	OTTHUMT00000045112.2	-	0	64	0	C	NM_006418		53624487	1	tier1	-	no_errors	ENST00000219022	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	A	A	53624487	C	A	53624487	3	1	79	1	0	0	0	0	1	0	0	0	10894	652	23	2	1132	2	OLFM4	13	53624487	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	7074921	53624487	61545391	232	20888											
DACH1	1602	genome.wustl.edu	37	chr13	72147054	72147054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaatggtgctgaggtggTtcatctggctcattgccatg	6	14	13	8	0	3	1	2	1	1	0	3	1	3	1	1	4	3	4	1	4	1	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:72147054T>C	ENST00000359684.2	-	5	1378	c.1379A>G	c.(1378-1380)aAc>aGc	p.N460S	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.N408S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	460					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GCTGAGGTGGTTCATCTGGCT	0.443																																																	0													100	104	102					13																	72147054		2092	4258	6350	SO:0001583	missense	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1379A>G	13.37:g.72147054T>C	ENSP00000352712:p.Asn460Ser		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.N460S	ENST00000359684.2	37	c.1379		13	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643273	0.87859	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.37411	1.34;1.2	5.72	5.72	0.89469	.	0.082250	0.85682	D	0.000000	T	0.50154	0.1599	L	0.56769	1.78	0.80722	D	1	D	0.60575	0.988	P	0.54815	0.761	T	0.50600	-0.8809	10	0.56958	D	0.05	-19.9739	15.9465	0.79799	0.0:0.0:0.0:1.0	.	406	Q9UI36-2	.	S	408;460;460	ENSP00000304994:N408S;ENSP00000352712:N460S	ENSP00000304994:N408S	N	-	2	0	DACH1	71045055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.553000	0.82203	2.306000	0.77630	0.482000	0.46254	AAC	DACH1	-	NULL	ENSG00000165659		0.443	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	-	0	57	0	T	NM_004392		72147054	-1	tier1	-	no_errors	ENST00000359684	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	C	C	72147054	T	C	72147054	3	2	79	1	0	0	0	0	1	0	0	0	4229	1725	60	4	935	4	DACH1	13	72147054	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	18522567	72147054	43022824	233	20889											
MYCBP2	23077	genome.wustl.edu	37	chr13	77636817	77636817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaagaacacatagggatgCgagagcaagccagagctgtt	15	6	12	8	1	1	3	1	0	0	3	1	5	1	4	1	1	5	3	1	1	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:77636817C>T	ENST00000544440.2	-	74	12591	c.12574G>A	c.(12574-12576)Gca>Aca	p.A4192T	MYCBP2_ENST00000407578.2_Missense_Mutation_p.A4230T|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A4192T					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATAGGGATGCGAGAGCAAGC	0.443																																																	0													143	128	133					13																	77636817		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12574G>A	13.37:g.77636817C>T	ENSP00000444596:p.Ala4192Thr			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A4230T	ENST00000544440.2	37	c.12688		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.302445|5.302445	0.95601|0.95601	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.50813|.	0.74;0.73;0.74|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75997|0.75997	0.3926|0.3926	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.71184|.	0.972|.	T|T	0.72636|0.72636	-0.4233|-0.4233	10|5	0.87932|.	D|.	0|.	.|.	20.27|20.27	0.98469|0.98469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4192|.	O75592|.	MYCB2_HUMAN|.	T|H	4192;4230;4192|612	ENSP00000349892:A4192T;ENSP00000384288:A4230T;ENSP00000444596:A4192T|.	ENSP00000349892:A4192T|.	A|R	-|-	1|2	0|0	MYCBP2|MYCBP2	76534818|76534818	1.000000|1.000000	0.71417|0.71417	0.488000|0.488000	0.27440|0.27440	0.824000|0.824000	0.46624|0.46624	7.752000|7.752000	0.85141|0.85141	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GCA|CGC	MYCBP2	-	NULL	ENSG00000005810		0.443	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1		0	47	0	C	NM_015057		77636817	-1			no_errors	ENST00000407578	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	77636817	C	T	77636817	3	4	79	1	0	0	0	0	1	0	0	0	10056	768	27	1	1388	1	MYCBP2	13	77636817	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	5489763	77636817	37533061	234	20890											
SLITRK5	26050	genome.wustl.edu	37	chr13	88328307	88328307	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctacgtggggctcttgCagcacatggataaagttgtg	8	11	13	9	1	1	0	0	0	1	0	1	1	1	1	1	3	4	4	1	3	3	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:88328307C>T	ENST00000325089.6	+	2	883	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	222					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.Q222E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGGGCTCTTGCAGCACATGGA	0.493																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											71	74	73					13																	88328307		2203	4300	6503	SO:0001587	stop_gained	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.664C>T	13.37:g.88328307C>T	ENSP00000366283:p.Gln222*		B3KNB8|B4DSH5|Q5VT81	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q222*	ENST00000325089.6	37	c.664	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535019	0.85812	.	.	ENSG00000165300	ENST00000325089	.	.	.	5.79	5.79	0.91817	.	0.062750	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7974	13.1564	0.59520	0.0:0.8397:0.1603:0.0	.	.	.	.	X	222	.	.	Q	+	1	0	SLITRK5	87126308	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	5.386000	0.66238	2.749000	0.94314	0.491000	0.48974	CAG	SLITRK5	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000165300		0.493	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3		0	60	0	C			88328307	1			no_errors	ENST00000325089	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T	T	88328307	C	T	88328307	4	4	79	1	0	0	0	0	0	1	0	0	14791	711	25	3	666	3	SLITRK5	13	88328307	Nonsense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	10691490	88328307	26841571	235	20891											
MCF2L	23263	genome.wustl.edu	37	chr13	113634042	113634042	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcactgcccaggaggCgccggggaactgcagggcgc	6	5	18	12	3	1	0	1	0	0	0	1	2	1	2	2	6	3	1	2	6	1	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr13:113634042C>T	ENST00000375608.3	+	3	227				MCF2L_ENST00000375601.3_Missense_Mutation_p.R21C|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000421756.1_Missense_Mutation_p.R21C|MCF2L_ENST00000442652.2_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCCCAGGAGGCGCCGGGGAAC	0.672																																																	0													23	29	27					13																	113634042		1568	3580	5148	SO:0001627	intron_variant	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.170-35035C>T	13.37:g.113634042C>T			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R21C	ENST00000375608.3	37	c.61		13	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169308	0.57584	.	.	ENSG00000126217	ENST00000421756;ENST00000375601	T;T	0.36878	1.28;1.23	3.45	1.71	0.24356	.	.	.	.	.	T	0.35364	0.0929	.	.	.	0.19945	N	0.999946	.	.	.	.	.	.	T	0.30357	-0.9981	6	0.87932	D	0	.	5.9821	0.19413	0.0:0.769:0.0:0.231	.	.	.	.	C	21	ENSP00000397285:R21C;ENSP00000364751:R21C	ENSP00000364751:R21C	R	+	1	0	MCF2L	112682043	0.002000	0.14202	0.069000	0.20011	0.262000	0.26303	0.182000	0.16900	0.459000	0.27016	0.478000	0.44815	CGC	MCF2L	-	NULL	ENSG00000126217		0.672	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4		0	192	0	C			113634042	1			no_errors	ENST00000375601	ensembl	human	known	74_37	missense	6.00	93	6	SNP	0.073	T	T	113634042	C	T	113634042	1	4	79	0	1	0	0	0	0	0	0	0	9417	768	27	1		1	MCF2L	13	113634042	Intron	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	25305735	113634042	1535836	236	20892											
POTEG	404785	genome.wustl.edu	37	chr14	19563512	19563512	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctggacagacggccagAgagtatgctgtttctagtca	10	11	11	9	1	3	2	1	0	2	2	3	4	3	3	1	2	1	3	1	2	3	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr14:19563512A>G	ENST00000409832.3	+	5	1078	c.1026A>G	c.(1024-1026)agA>agG	p.R342R	CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	342										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACGGCCAGAGAGTATGCTG	0.348																																																	0													57	94	82					14																	19563512		1145	2446	3591	SO:0001819	synonymous_variant	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1026A>G	14.37:g.19563512A>G			A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R342	ENST00000409832.3	37	c.1026	CCDS32018.1	14																																																																																			POTEG	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000222036		0.348	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	-	0	1002	0	A	NM_001005356		19563512	1	tier1	-	no_errors	ENST00000409832	ensembl	human	known	74_37	silent	11.81	462	62	SNP	0.002	G	G	19563512	A	G	19563512	2	3	79	1	0	0	0	0	0	0	0	1	12305	301	11	4		4	POTEG	14	19563512	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09		19563512	87786028	237	20893											
NOVA1	4857	genome.wustl.edu	37	chr14	27064693	27064693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgaacaattgtctgtcctCccttcccaattatagatcca	11	13	4	13	0	1	2	0	1	1	1	5	2	5	2	4	0	1	0	4	0	5	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr14:27064693C>A	ENST00000344429.5	-	2	206	c.203G>T	c.(202-204)gGa>gTa	p.G68V	NOVA1_ENST00000551754.1_5'Flank|NOVA1-AS1_ENST00000547786.1_RNA|NOVA1_ENST00000547619.1_Missense_Mutation_p.G68V|NOVA1_ENST00000267422.7_5'UTR|NOVA1_ENST00000574031.1_Missense_Mutation_p.G68V|NOVA1_ENST00000465357.2_Missense_Mutation_p.G68V|RP11-483C6.1_ENST00000572358.1_RNA|NOVA1_ENST00000539517.2_Missense_Mutation_p.G68V	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	68	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGTCTGTCCTCCCTTCCCAAT	0.403																																																	0													140	131	134					14																	27064693		2203	4300	6503	SO:0001583	missense	0			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.203G>T	14.37:g.27064693C>A	ENSP00000342387:p.Gly68Val		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G68V	ENST00000344429.5	37	c.203	CCDS9635.1	14	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393920	0.62066	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000449198;ENST00000549571;ENST00000344429;ENST00000547619	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.1	5.1	0.69264	.	0.107102	0.38326	N	0.001738	T	0.75170	0.3813	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.994;0.986;0.976	T	0.83190	-0.0084	10	0.87932	D	0	-2.1805	18.8679	0.92300	0.0:1.0:0.0:0.0	.	68;68;68	P51513-2;D3DS81;P51513-4	.;.;.	V	68;68;27;31;68;68	ENSP00000447391:G68V;ENSP00000438875:G68V;ENSP00000408914:G27V;ENSP00000449185:G31V;ENSP00000342387:G68V;ENSP00000448157:G68V	ENSP00000342387:G68V	G	-	2	0	NOVA1	26134533	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.729000	0.84864	2.523000	0.85059	0.561000	0.74099	GGA	NOVA1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000139910		0.403	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	NOVA1	HGNC	protein_coding	OTTHUMT00000276557.1	-	0	60	0	C	NM_006491		27064693	-1	tier1	-	no_errors	ENST00000539517	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A	A	27064693	C	A	27064693	3	1	79	1	0	0	0	0	1	0	0	0	10593	855	30	3	1367	3	NOVA1	14	27064693	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	7501181	27064693	80284847	238	20894											
ARHGAP5	394	genome.wustl.edu	37	chr14	32559920	32559920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcccccatcctataccatCagtatagttggactctctgg	8	12	7	14	1	2	0	1	0	1	0	5	1	4	1	4	2	1	2	4	2	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr14:32559920C>T	ENST00000345122.3	+	2	360	c.45C>T	c.(43-45)atC>atT	p.I15I	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Silent_p.I15I|ARHGAP5_ENST00000432921.1_Silent_p.I15I|ARHGAP5_ENST00000556611.1_Silent_p.I15I	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	15					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CCTATACCATCAGTATAGTTG	0.398																																					NSCLC(9;77 350 3443 29227 41353)												0													94	91	92					14																	32559920		2203	4300	6503	SO:0001819	synonymous_variant	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.45C>T	14.37:g.32559920C>T			A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Silent	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.I15	ENST00000345122.3	37	c.45	CCDS32062.1	14																																																																																			ARHGAP5	-	superfamily_P-loop_NTPase	ENSG00000100852		0.398	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	73	0	C	NM_001030055		32559920	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	silent	26.56	47	17	SNP	1.000	T	T	32559920	C	T	32559920	2	4	79	1	0	0	0	0	0	0	0	1	886	816	29	3		3	ARHGAP5	14	32559920	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	5495227	32559920	74789620	239	20895											
MDGA2	161357	genome.wustl.edu	37	chr14	47311204	47311204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatatgaaccaaaatcccaAcagcaccatcaacggaatct	18	7	4	12	1	2	1	1	1	1	0	3	2	3	2	3	1	4	1	3	1	8	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr14:47311204A>C	ENST00000399232.2	-	17	3165	c.2801T>G	c.(2800-2802)gTt>gGt	p.V934G	MDGA2_ENST00000399222.3_Missense_Mutation_p.V136G|MDGA2_ENST00000439988.3_Missense_Mutation_p.V1003G|MDGA2_ENST00000357362.3_Missense_Mutation_p.V705G|MDGA2_ENST00000426342.1_Missense_Mutation_p.V705G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	934					pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CAAAATCCCAACAGCACCATC	0.373																																																	0													83	76	78					14																	47311204		1848	4092	5940	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2801T>G	14.37:g.47311204A>C	ENSP00000382178:p.Val934Gly		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.V1003G	ENST00000399232.2	37	c.3008		14	.	.	.	.	.	.	.	.	.	.	A	1.815	-0.473704	0.04414	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.65549	0.01;0.25;-0.16;2.97;0.25	5.97	4.81	0.61882	.	0.291489	0.23614	U	0.046312	T	0.40322	0.1112	N	0.08118	0	0.54753	D	0.999988	B	0.02656	0.0	B	0.01281	0.0	T	0.18713	-1.0328	10	0.41790	T	0.15	.	9.594	0.39563	0.72:0.0:0.0:0.28	.	934	Q7Z553	MDGA2_HUMAN	G	934;705;1003;136;705	ENSP00000400011:V934G;ENSP00000405456:V705G;ENSP00000382178:V1003G;ENSP00000382168:V136G;ENSP00000349925:V705G	ENSP00000349925:V705G	V	-	2	0	MDGA2	46380954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.165000	0.31822	1.054000	0.40438	0.528000	0.53228	GTT	MDGA2	-	NULL	ENSG00000272781		0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	68	0	A	NM_182830		47311204	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	40.82	29	20	SNP	1.000	C	C	47311204	A	C	47311204	3	2	79	1	0	0	0	0	1	0	0	0	9445	43	2	4	73	4	MDGA2	14	47311204	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	14751284	47311204	60038336	240	20896											
SLC35F4	341880	genome.wustl.edu	37	chr14	58036551	58036551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacagccccatggcagagCagcaaaagaggaccagtgct	14	3	13	11	0	0	3	0	0	0	3	0	5	0	4	3	2	4	4	3	2	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr14:58036551C>T	ENST00000339762.6	-	6	1188	c.1189G>A	c.(1189-1191)Gct>Act	p.A397T	SLC35F4_ENST00000554729.1_Missense_Mutation_p.A238T|SLC35F4_ENST00000556826.1_Missense_Mutation_p.A361T			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	397					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATGGCAGAGCAGCAAAAGAG	0.502																																																	0													41	48	46					14																	58036551		2009	4184	6193	SO:0001583	missense	0					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.1189G>A	14.37:g.58036551C>T	ENSP00000342518:p.Ala397Thr		A6NDQ3	Missense_Mutation	SNP	pfam_DMT,pfam_SLC35_F1/F2/F6	p.A397T	ENST00000339762.6	37	c.1189		14	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093356	0.36952	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.27557	1.66;1.66;1.66	6.01	6.01	0.97437	.	0.194877	0.56097	D	0.000034	T	0.27765	0.0683	L	0.38531	1.155	0.58432	D	0.999992	B	0.14012	0.009	B	0.13407	0.009	T	0.11203	-1.0597	10	0.11794	T	0.64	-2.2896	20.5211	0.99222	0.0:1.0:0.0:0.0	.	397	A4IF30	S35F4_HUMAN	T	361;397;238	ENSP00000452086:A361T;ENSP00000342518:A397T;ENSP00000451990:A238T	ENSP00000342518:A397T	A	-	1	0	SLC35F4	57106304	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	6.193000	0.72075	2.861000	0.98227	0.650000	0.86243	GCT	SLC35F4	-	pfam_SLC35_F1/F2/F6	ENSG00000151812		0.502	SLC35F4-201	KNOWN	basic	protein_coding	SLC35F4	HGNC	protein_coding		-	0	44	0	C	XM_292260		58036551	-1	tier1	-	no_errors	ENST00000339762	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	58036551	C	T	58036551	3	4	79	1	0	0	0	0	1	0	0	0	14636	710	25	3	388	3	SLC35F4	14	58036551	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	10725347	58036551	49312989	241	20897											
VASH1	22846	genome.wustl.edu	37	chr14	77229456	77229456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgcaacggatccgtgggGccacagacctgcccaaggtg	8	5	15	13	3	0	1	0	0	0	1	1	2	1	2	4	5	2	1	4	5	2	0	rs543576491		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr14:77229456G>C	ENST00000167106.4	+	1	925	c.292G>C	c.(292-294)Gcc>Ccc	p.A98P	RP11-99E15.2_ENST00000556271.1_lincRNA|VASH1_ENST00000554237.1_Missense_Mutation_p.A98P	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	98					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GATCCGTGGGGCCACAGACCT	0.602																																																	0													36	26	29					14																	77229456		2152	4212	6364	SO:0001583	missense	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"KIAA1036"	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.292G>C	14.37:g.77229456G>C	ENSP00000167106:p.Ala98Pro		Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	NULL	p.A98P	ENST00000167106.4	37	c.292	CCDS9851.1	14	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681749	0.88542	.	.	ENSG00000071246	ENST00000167106;ENST00000554237	.	.	.	5.33	5.33	0.75918	.	0.208577	0.50627	D	0.000112	T	0.71676	0.3368	M	0.61703	1.905	0.80722	D	1	P;D	0.60575	0.514;0.988	B;P	0.53689	0.246;0.732	T	0.73607	-0.3929	9	0.54805	T	0.06	-9.1354	18.1485	0.89667	0.0:0.0:1.0:0.0	.	98;98	Q7L8A9;Q7L8A9-2	VASH1_HUMAN;.	P	98	.	ENSP00000167106:A98P	A	+	1	0	VASH1	76299209	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	5.920000	0.70017	2.660000	0.90430	0.655000	0.94253	GCC	VASH1	-	NULL	ENSG00000071246		0.602	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1		0	59	0	G	NM_014909		77229456	1			no_errors	ENST00000167106	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.997	C	C	77229456	G	C	77229456	3	2	79	1	0	0	0	0	1	0	0	0	17174	1203	42	5	294	5	VASH1	14	77229456	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	19192905	77229456	30120084	242	20898											
FLRT2	23768	genome.wustl.edu	37	chr14	86089605	86089605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaatacaaccggggcCggcggaaagatgattattgc	13	7	14	7	3	0	2	0	1	0	1	0	4	0	4	2	5	3	0	2	5	5	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr14:86089605C>T	ENST00000330753.4	+	2	2514	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	FLRT2_ENST00000554746.1_Missense_Mutation_p.R583W	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	583					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.R583W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAACCGGGGCCGGCGGAAAGA	0.502																																																	1	Substitution - Missense(1)	lung(1)											82	90	87					14																	86089605		2203	4300	6503	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1747C>T	14.37:g.86089605C>T	ENSP00000332879:p.Arg583Trp		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.R583W	ENST00000330753.4	37	c.1747	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096101	0.56075	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.63417	-0.04;-0.04	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.76983	0.4064	L	0.59436	1.845	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.79727	-0.1682	10	0.87932	D	0	-18.9898	17.0036	0.86387	0.1285:0.8715:0.0:0.0	.	583	O43155	FLRT2_HUMAN	W	583;583;236	ENSP00000332879:R583W;ENSP00000451050:R583W	ENSP00000332879:R583W	R	+	1	2	FLRT2	85159358	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.397000	0.34543	1.611000	0.50210	0.655000	0.94253	CGG	FLRT2	-	NULL	ENSG00000185070		0.502	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0	28	0	C			86089605	1	tier1	-	no_errors	ENST00000330753	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	T	T	86089605	C	T	86089605	3	4	79	1	0	0	0	0	1	0	0	0	5961	643	23	1	1749	1	FLRT2	14	86089605	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	8860149	86089605	21259935	243	20899											
NDN	4692	genome.wustl.edu	37	chr15	23931967	23931967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgctcctgcaccacttcTtgtagctgccgatgacatct	7	12	9	13	1	2	1	0	1	2	0	3	3	3	2	3	1	4	4	3	1	1	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:23931967T>C	ENST00000331837.4	-	1	483	c.398A>G	c.(397-399)aAg>aGg	p.K133R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	133	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCACCACTTCTTGTAGCTGCC	0.577									Prader-Willi syndrome																																								0													77	73	74					15																	23931967		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"Prader-Willi syndrome chromosome region"	602117	"necdin (mouse) homolog", "necdin homolog (mouse)"			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.398A>G	15.37:g.23931967T>C	ENSP00000332643:p.Lys133Arg		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K133R	ENST00000331837.4	37	c.398	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626377	0.66901	.	.	ENSG00000182636	ENST00000331837	T	0.05319	3.46	3.87	3.87	0.44632	.	0.055638	0.64402	D	0.000002	T	0.09069	0.0224	N	0.24115	0.695	0.38477	D	0.947616	P	0.44946	0.846	P	0.54706	0.759	T	0.35301	-0.9794	10	0.35671	T	0.21	.	9.6703	0.40008	0.0:0.0:0.0:1.0	.	133	Q99608	NECD_HUMAN	R	133	ENSP00000332643:K133R	ENSP00000332643:K133R	K	-	2	0	NDN	21483060	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.474000	0.53129	1.717000	0.51406	0.459000	0.35465	AAG	NDN	-	pfam_MAGE,pfscan_MAGE	ENSG00000182636		0.577	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	-	0	52	0	T	NM_002487		23931967	-1	tier1	-	no_errors	ENST00000331837	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	C	C	23931967	T	C	23931967	3	2	79	1	0	0	0	0	1	0	0	0	10286	1609	56	4	571	4	NDN	15	23931967	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09		23931967	78599425	244	20900											
RYR3	6263	genome.wustl.edu	37	chr15	33905446	33905446	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagatcggatgacgtggtaAgctgctgcctggacctcggg	7	9	16	9	3	0	2	0	2	0	1	2	5	0	4	2	4	3	3	2	4	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:33905446A>C	ENST00000389232.4	+	19	2297	c.2227A>C	c.(2227-2229)Agc>Cgc	p.S743R	RYR3_ENST00000415757.3_Missense_Mutation_p.S743R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	743	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGACGTGGTAAGCTGCTGCCT	0.567																																																	0													45	49	48					15																	33905446		2130	4274	6404	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2227A>C	15.37:g.33905446A>C	ENSP00000373884:p.Ser743Arg		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S743R	ENST00000389232.4	37	c.2227	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585067	0.86748	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.68765	-0.35;-0.35	5.4	5.4	0.78164	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.81795	0.4898	M	0.78916	2.43	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.958	D	0.84044	0.0366	10	0.66056	D	0.02	.	15.6291	0.76888	1.0:0.0:0.0:0.0	.	743;743	Q15413-2;Q15413	.;RYR3_HUMAN	R	743	ENSP00000373884:S743R;ENSP00000399610:S743R	ENSP00000354735:S743R	S	+	1	0	RYR3	31692738	1.000000	0.71417	0.999000	0.59377	0.765000	0.43378	9.029000	0.93718	2.276000	0.75962	0.529000	0.55759	AGC	RYR3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000198838		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	45	0	A			33905446	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	C	C	33905446	A	C	33905446	3	2	79	1	0	0	0	0	1	0	0	0	13815	72	3	4	2301	4	RYR3	15	33905446	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	9973479	33905446	68625946	245	20901											
RYR3	6263	genome.wustl.edu	37	chr15	34110876	34110876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagccgcaacgctctcaCggagaggaggtcagaaccac	11	7	11	12	3	2	2	2	0	1	2	3	4	2	3	2	3	3	2	2	3	3	2	rs373357553		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:34110876C>T	ENST00000389232.4	+	76	10767	c.10697C>T	c.(10696-10698)aCg>aTg	p.T3566M	RYR3_ENST00000415757.3_Missense_Mutation_p.T3561M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3566					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AACGCTCTCACGGAGAGGAGG	0.517																																																	0								C	MET/THR	0,4124		0,0,2062	86	90	89		10697	5	1	15		89	1,8403		0,1,4201	no	missense	RYR3	NM_001036.3	81	0,1,6263	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	3566/4871	34110876	1,12527	2062	4202	6264	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10697C>T	15.37:g.34110876C>T	ENSP00000373884:p.Thr3566Met		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.T3566M	ENST00000389232.4	37	c.10697	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531530	0.85706	0.0	1.19E-4	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97016	-4.21	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.97898	0.9309	M	0.75615	2.305	0.58432	D	0.999999	D;D	0.89917	1.0;0.977	D;P	0.76071	0.987;0.556	D	0.98260	1.0498	10	0.56958	D	0.05	.	18.4574	0.90725	0.0:1.0:0.0:0.0	.	3561;3566	Q15413-2;Q15413	.;RYR3_HUMAN	M	3566;3565;3561	ENSP00000373884:T3566M	ENSP00000354735:T3561M	T	+	2	0	RYR3	31898168	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	5.562000	0.67346	2.593000	0.87608	0.655000	0.94253	ACG	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	43	0	C			34110876	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T	T	34110876	C	T	34110876	3	4	79	1	0	0	0	0	1	0	0	0	13815	536	19	1	10999	1	RYR3	15	34110876	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	205430	34110876	68420516	246	20902											
FAM63B	54629	genome.wustl.edu	37	chr15	59064332	59064332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctgtgtatcacatcaaGtggatccagtggaaggaaga	14	9	11	7	0	3	1	2	0	1	1	4	4	4	4	1	3	0	1	1	3	5	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:59064332G>T	ENST00000559228.1	+	1	820	c.738G>T	c.(736-738)aaG>aaT	p.K246N	FAM63B_ENST00000450403.2_Missense_Mutation_p.K246N|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	246										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ATCACATCAAGTGGATCCAGT	0.582																																																	0													75	84	81					15																	59064332		2096	4231	6327	SO:0001583	missense	0			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.738G>T	15.37:g.59064332G>T	ENSP00000452885:p.Lys246Asn		B2RTT8|Q9ULQ6	Missense_Mutation	SNP	pfam_DUF544	p.K246N	ENST00000559228.1	37	c.738	CCDS42046.1	15	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914931	0.72983	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.61742	0.08	4.84	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	M	0.85299	2.745	0.50039	D	0.999844	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.76170	-0.3057	10	0.62326	D	0.03	-9.182	8.6655	0.34118	0.1754:0.0:0.8246:0.0	.	246;246	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	N	246	ENSP00000393231:K246N	ENSP00000326194:K246N	K	+	3	2	FAM63B	56851624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.404000	0.52623	0.996000	0.38943	0.585000	0.79938	AAG	FAM63B	-	NULL	ENSG00000128923		0.582	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM63B	HGNC	protein_coding	OTTHUMT00000416230.1	-	0	60	0	G	NM_019092		59064332	1	tier1	-	no_errors	ENST00000559228	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	59064332	G	T	59064332	3	4	79	1	0	0	0	0	1	0	0	0	5619	1020	36	3	740	3	FAM63B	15	59064332	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	24953456	59064332	43467060	247	20903											
ULK3	25989	genome.wustl.edu	37	chr15	75134440	75134440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctgcatgaagacacgcgCcaccttctcaggcagaatcc	10	8	9	14	2	1	3	1	1	1	2	3	3	2	3	3	1	2	3	3	1	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:75134440C>T	ENST00000440863.2	-	3	431	c.340G>A	c.(340-342)Gcg>Acg	p.A114T	ULK3_ENST00000569437.1_Missense_Mutation_p.A114T|ULK3_ENST00000568667.1_Missense_Mutation_p.A125T	NM_001099436.1	NP_001092906	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cellular senescence (GO:0090398)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)	2						AAGACACGCGCCACCTTCTCA	0.572																																																	0													117	125	122					15																	75134440		2115	4233	6348	SO:0001583	missense	0			BC048289		15q24.1	2013-07-02	2013-07-02			ENSG00000140474			19703	protein-coding gene	gene with protein product		613472	"unc-51-like kinase 3 (C. elegans)"				Standard	XM_005254289		Approved	DKFZP434C131, FLJ90566	uc010bkf.1	Q6PHR2		ENST00000440863.2:c.340G>A	15.37:g.75134440C>T	ENSP00000400312:p.Ala114Thr		B2RXK3|B4DRQ7|D3DW68|Q9NPN5|Q9UFS4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIT,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_MIT,pfscan_Prot_kinase_dom	p.A114T	ENST00000440863.2	37	c.340	CCDS45305.1	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364261	0.82463	.	.	ENSG00000140474	ENST00000440863;ENST00000418051	T	0.68025	-0.3	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112642	0.64402	D	0.000014	T	0.66713	0.2817	L	0.41027	1.25	0.51012	D	0.999902	B;B;B;B;B	0.32893	0.372;0.277;0.362;0.389;0.211	B;B;B;B;B	0.42163	0.256;0.179;0.323;0.378;0.066	T	0.63355	-0.6656	10	0.33940	T	0.23	-5.4892	18.0717	0.89410	0.0:1.0:0.0:0.0	.	24;125;24;114;114	B4DEJ1;B4DFT0;B4DFS6;Q6PHR2;Q6PHR2-3	.;.;.;ULK3_HUMAN;.	T	114;125	ENSP00000400312:A114T	ENSP00000393658:A125T	A	-	1	0	ULK3	72921493	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.578000	0.60929	2.605000	0.88082	0.655000	0.94253	GCG	ULK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140474		0.572	ULK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ULK3	HGNC	protein_coding	OTTHUMT00000421734.4	-	0	40	0	C	NM_015518		75134440	-1	tier1	-	no_errors	ENST00000440863	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	T	T	75134440	C	T	75134440	3	4	79	1	0	0	0	0	1	0	0	0	17026	739	26	3	1134	3	ULK3	15	75134440	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	16070108	75134440	27396952	248	20904											
ACAN	176	genome.wustl.edu	37	chr15	89401826	89401826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaccaggtactccatatTttagtggggattttgccagc	9	12	10	10	0	0	0	0	0	0	0	1	1	1	1	4	3	4	1	4	3	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:89401826T>A	ENST00000561243.1	+	11	6010	c.6010T>A	c.(6010-6012)Ttt>Att	p.F2004I	ACAN_ENST00000352105.7_Missense_Mutation_p.F2004I|ACAN_ENST00000559004.1_Missense_Mutation_p.F2004I|ACAN_ENST00000439576.2_Missense_Mutation_p.F2004I			P16112	PGCA_HUMAN	aggrecan	2014	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TACTCCATATTTTAGTGGGGA	0.527																																																	0													47	47	47					15																	89401826		1860	4099	5959	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6010T>A	15.37:g.89401826T>A	ENSP00000453342:p.Phe2004Ile		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.F2004I	ENST00000561243.1	37	c.6010	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	T	5.414	0.261481	0.10239	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03330	4.23;3.97	5.15	2.76	0.32466	.	0.254509	0.20808	N	0.085306	T	0.13798	0.0334	M	0.81497	2.545	0.18873	N	0.999986	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.992	T	0.13150	-1.0520	10	0.22109	T	0.4	-6.045	6.9115	0.24338	0.2582:0.0:0.1345:0.6073	.	2004;2004	E7ENV9;E7EX88	.;.	I	2004;2004;1890	ENSP00000387356:F2004I;ENSP00000341615:F2004I	ENSP00000268134:F1890I	F	+	1	0	ACAN	87202830	1.000000	0.71417	0.940000	0.37924	0.048000	0.14542	2.388000	0.44398	0.259000	0.21709	-0.313000	0.08912	TTT	ACAN	-	NULL	ENSG00000157766		0.527	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0	25	0	T	NM_001135		89401826	1	tier1	-	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.481	A	A	89401826	T	A	89401826	3	1	79	1	0	0	0	0	1	0	0	0	117	1841	64	5	6052	5	ACAN	15	89401826	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	14267386	89401826	13129566	249	20905											
FURIN	5045	genome.wustl.edu	37	chr15	91420846	91420846	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctacaacgcccgcattggagGtgagtgtgggcctgggccac	7	7	15	12	2	0	1	0	1	0	0	0	2	0	2	3	4	2	1	3	4	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:91420846G>A	ENST00000268171.3	+	7	946		c.e7+1			NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)						cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CGCATTGGAGGTGAGTGTGGG	0.637																																																	0													60	41	47					15																	91420846		2181	4280	6461	SO:0001630	splice_region_variant	0			X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.667+1G>A	15.37:g.91420846G>A			Q14336|Q6LBS3|Q9UCZ5	Splice_Site	SNP	-	e6+1	ENST00000268171.3	37	c.667+1	CCDS10364.1	15	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893429	0.52121	.	.	ENSG00000140564	ENST00000268171	.	.	.	3.92	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1783	0.59639	0.0:0.1607:0.8393:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FURIN	89221850	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	9.168000	0.94781	2.028000	0.59812	0.650000	0.86243	.	FURIN	-	-	ENSG00000140564		0.637	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FURIN	HGNC	protein_coding	OTTHUMT00000313492.1	-	0	34	0	G	NM_002569	Intron	91420846	1	tier1	-	no_errors	ENST00000268171	ensembl	human	known	74_37	splice_site	15.91	37	7	SNP	1.000	A	A	91420846	G	A	91420846	5	1	79	1	0	0	0	0	0	0	1	0	6123	1275	44	3	690	3	FURIN	15	91420846	Splice_Site	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2019020	91420846	11110546	250	20906											
LRRK1	79705	genome.wustl.edu	37	chr15	101549050	101549050	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccaccaggctctccgTgtgaaatggtcccatctcag	8	10	8	15	1	2	1	1	1	2	0	6	1	4	1	5	2	0	1	5	2	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr15:101549050T>A	ENST00000388948.3	+	7	1130	c.771T>A	c.(769-771)cgT>cgA	p.R257R	LRRK1_ENST00000284395.5_Silent_p.R254R	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGCTCTCCGTGTGAAATGGT	0.542											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													105	102	103					15																	101549050		2033	4187	6220	SO:0001819	synonymous_variant	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.771T>A	15.37:g.101549050T>A		1359		Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.R257	ENST00000388948.3	37	c.771	CCDS42086.1	15																																																																																			LRRK1	-	NULL	ENSG00000154237		0.542	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2		0	28	0	T	NM_024652		101549050	1			no_errors	ENST00000388948	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.591	A	A	101549050	T	A	101549050	2	1	79	1	0	0	0	0	0	0	0	1	9067	1683	59	5		5	LRRK1	15	101549050	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	10128204	101549050	982342	251	20907											
WDR90	197335	genome.wustl.edu	37	chr16	711660	711660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgacctcgtgtcctccaCccgcctcccggagccggtgc	4	8	10	19	4	0	1	0	1	0	0	4	2	3	2	7	2	2	0	7	2	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:711660C>T	ENST00000293879.4	+	31	3737	c.3737C>T	c.(3736-3738)aCc>aTc	p.T1246I	WDR90_ENST00000549091.1_Missense_Mutation_p.T1246I			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1246										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GTGTCCTCCACCCGCCTCCCG	0.682																																																	0													28	34	32					16																	711660		2057	4199	6256	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"WD repeat domain containing"	26960	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 17", "chromosome 16 open reading frame 15", "chromosome 16 open reading frame 16", "chromosome 16 open reading frame 19", "chromosome 16 open reading frame 18"	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3737C>T	16.37:g.711660C>T	ENSP00000293879:p.Thr1246Ile		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1246I	ENST00000293879.4	37	c.3737	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111606	0.20714	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.39997	1.05;3.77	5.63	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.351538	0.29861	U	0.011007	T	0.36580	0.0972	M	0.69523	2.12	0.09310	N	1	P;P	0.43938	0.822;0.741	B;B	0.42282	0.382;0.147	T	0.19582	-1.0301	10	0.24483	T	0.36	.	3.3005	0.06982	0.142:0.5725:0.1373:0.1482	.	1246;1246	F8VUX9;Q96KV7	.;WDR90_HUMAN	I	1246	ENSP00000448122:T1246I;ENSP00000293879:T1246I	ENSP00000293879:T1246I	T	+	2	0	WDR90	651661	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	0.520000	0.22878	0.301000	0.22738	0.561000	0.74099	ACC	WDR90	-	superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000161996		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1		0	32	0	C	NM_145294		711660	1			no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	9.30	38	4	SNP	0.000	T	T	711660	C	T	711660	3	4	79	1	0	0	0	0	1	0	0	0	17386	507	18	3	3859	3	WDR90	16	711660	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09		711660	89643093	252	20908											
PKMYT1	9088	genome.wustl.edu	37	chr16	3024061	3024061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagcaaactgcagggtGgtgagccaggcggggtggct	8	5	19	9	1	0	1	0	1	0	0	0	2	0	2	2	7	4	3	2	7	1	0	rs4149800		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:3024061G>A	ENST00000262300.8	-	7	1758	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	PKMYT1_ENST00000574385.1_Missense_Mutation_p.P408L|PKMYT1_ENST00000431515.2_Missense_Mutation_p.P417L|PKMYT1_ENST00000573944.1_Missense_Mutation_p.P408L|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P417L|PKMYT1_ENST00000574730.1_Missense_Mutation_p.P348L	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	417	Interaction with PIN1.		P -> R (in dbSNP:rs4149800). {ECO:0000269|Ref.4}.		G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACTGCAGGGTGGTGAGCCAGG	0.672																																																	0													24	26	25					16																	3024061		2194	4298	6492	SO:0001583	missense	0			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.1250C>T	16.37:g.3024061G>A	ENSP00000262300:p.Pro417Leu		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom	p.P417L	ENST00000262300.8	37	c.1250	CCDS10486.1	16	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040148	0.55003	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.59502	1.76;1.76;1.76;0.26	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.996;0.999	T	0.70400	-0.4882	10	0.72032	D	0.01	-29.8893	16.9392	0.86211	0.0:0.0:1.0:0.0	.	408;348;417;417	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	L	417;417;417;417;408	ENSP00000392855:P417L;ENSP00000262300:P417L;ENSP00000397739:P417L;ENSP00000371675:P408L	ENSP00000262300:P417L	P	-	2	0	PKMYT1	2964062	1.000000	0.71417	0.170000	0.22879	0.667000	0.39255	6.164000	0.71885	2.586000	0.87340	0.655000	0.94253	CCA	PKMYT1	-	pirsf_Tyr/Thr_kinase_Cdc2_inhib	ENSG00000127564		0.672	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250963.2	-	0	45	0	G	NM_004203		3024061	-1	tier1	-	no_errors	ENST00000262300	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.920	A	A	3024061	G	A	3024061	3	1	79	1	0	0	0	0	1	0	0	0	12017	1348	47	3	299	3	PKMYT1	16	3024061	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2312401	3024061	87330692	253	20909											
MMP25	64386	genome.wustl.edu	37	chr16	3100089	3100089	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggcggggctggtcaggcgGcgtcgccggtacgctctgag	3	7	20	11	6	2	1	1	1	1	0	3	1	2	1	1	7	1	3	1	7	1	1	rs143114141		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:3100089G>T	ENST00000336577.4	+	3	549	c.312G>T	c.(310-312)cgG>cgT	p.R104R	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	119					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TGGTCAGGCGGCGTCGCCGGT	0.701																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0								G		1,4393		0,1,2196	53	58	56		312	-7.1	0	16	dbSNP_134	56	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MMP25	NM_022468.4		0,2,6493	TT,TG,GG		0.0116,0.0228,0.0154		104/563	3100089	2,12988	2197	4298	6495	SO:0001819	synonymous_variant	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.312G>T	16.37:g.3100089G>T			Q96F04|Q96TE2	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R104	ENST00000336577.4	37	c.312	CCDS10492.1	16																																																																																			MMP25	-	pirsf_Pept_M10A_Metazoans	ENSG00000008516		0.701	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1	-	0	75	0	G	NM_022468		3100089	1	tier1	rs143114141	no_errors	ENST00000336577	ensembl	human	known	74_37	silent	23.81	48	15	SNP	0.003	T	T	3100089	G	T	3100089	2	4	79	1	0	0	0	0	0	0	0	1	9700	1190	42	3		3	MMP25	16	3100089	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	76028	3100089	87254664	254	20910											
SEC14L5	9717	genome.wustl.edu	37	chr16	5058463	5058463	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagtcggtcatcacctgGgactttgacatcctgcgagg	8	9	14	10	2	2	2	2	1	0	1	4	5	3	3	2	4	1	0	2	4	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:5058463G>A	ENST00000251170.7	+	14	1794	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	538	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCATCACCTGGGACTTTGACA	0.667																																																	0													37	43	41					16																	5058463		2063	4191	6254	SO:0001587	stop_gained	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1614G>A	16.37:g.5058463G>A	ENSP00000251170:p.Trp538*			Nonsense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.W538*	ENST00000251170.7	37	c.1614	CCDS45403.1	16	.	.	.	.	.	.	.	.	.	.	g	40	8.050408	0.98629	.	.	ENSG00000103184	ENST00000251170	.	.	.	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9978	17.7099	0.88319	0.0:0.0:1.0:0.0	.	.	.	.	X	538	.	ENSP00000251170:W538X	W	+	3	0	SEC14L5	4998464	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.148000	0.94652	2.426000	0.82243	0.556000	0.70494	TGG	SEC14L5	-	superfamily_GOLD,pfscan_GOLD	ENSG00000103184		0.667	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1		0	32	0	G			5058463	1			no_errors	ENST00000251170	ensembl	human	known	74_37	nonsense	10.34	26	3	SNP	1.000	A	A	5058463	G	A	5058463	4	1	79	1	0	0	0	0	0	1	0	0	14030	1241	43	3	1664	3	SEC14L5	16	5058463	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1958374	5058463	85296290	255	20911											
ZC3H7A	29066	genome.wustl.edu	37	chr16	11861348	11861348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttccatgatttatcttCaacattctttatcctaccga	9	20	2	10	1	3	1	1	1	2	0	5	2	5	1	3	0	2	0	3	0	4	10			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:11861348C>T	ENST00000396516.2	-	12	1644	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E483K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	483						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E483K(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GATTTATCTTCAACATTCTTT	0.289																																																	1	Substitution - Missense(1)	lung(1)											144	140	141					16																	11861348		2195	4300	6495	SO:0001583	missense	0			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30959	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 7", "zinc finger CCCH-type containing 7"	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1447G>A	16.37:g.11861348C>T	ENSP00000379773:p.Glu483Lys		D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E483K	ENST00000396516.2	37	c.1447	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031068	0.75504	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10382	2.88;2.88	5.77	5.77	0.91146	.	0.261673	0.43579	D	0.000551	T	0.30854	0.0778	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.65874	0.939;0.933	T	0.00134	-1.2009	10	0.41790	T	0.15	.	18.9808	0.92755	0.0:1.0:0.0:0.0	.	204;483	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	K	483	ENSP00000347999:E483K;ENSP00000379773:E483K	ENSP00000347999:E483K	E	-	1	0	ZC3H7A	11768849	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.846000	0.62860	2.729000	0.93468	0.467000	0.42956	GAA	ZC3H7A	-	NULL	ENSG00000122299		0.289	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	-	0	68	0	C	NM_014153		11861348	-1	tier1	-	no_errors	ENST00000355758	ensembl	human	known	74_37	missense	12.63	83	12	SNP	1.000	T	T	11861348	C	T	11861348	3	4	79	1	0	0	0	0	1	0	0	0	17620	835	29	3	1512	3	ZC3H7A	16	11861348	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	6802885	11861348	78493405	256	20912											
SNX29	92017	genome.wustl.edu	37	chr16	12662432	12662432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccgcttccccaaactgtcCcggggtcagccccgggagac	6	6	11	18	3	1	1	1	0	0	1	4	2	4	1	6	3	2	1	6	3	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:12662432C>T	ENST00000566228.1	+	21	2457	c.2388C>T	c.(2386-2388)tcC>tcT	p.S796S	CTD-3037G24.3_ENST00000564505.1_RNA|SNX29_ENST00000306030.3_Silent_p.S411S	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	796						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCAAACTGTCCCGGGGTCAGC	0.657																																																	0													27	35	32					16																	12662432		1966	4185	6151	SO:0001819	synonymous_variant	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2388C>T	16.37:g.12662432C>T			B5MDW2|Q8N2X2|Q9HA26	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S411	ENST00000566228.1	37	c.1233	CCDS10553.2	16																																																																																			SNX29	-	NULL	ENSG00000048471		0.657	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	-	0	91	0	C			12662432	1	tier1	-	no_errors	ENST00000306030	ensembl	human	known	74_37	silent	8.97	71	7	SNP	1.000	T	T	12662432	C	T	12662432	2	4	79	1	0	0	0	0	0	0	0	1	14943	610	22	3		3	SNX29	16	12662432	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	801084	12662432	77692321	257	20913											
GPRC5B	51704	genome.wustl.edu	37	chr16	19873217	19873217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatacacgttgcttctaaacGgagcgctgggtcttttcccc	7	12	10	12	3	2	0	0	0	2	0	3	2	3	1	2	2	4	3	2	2	3	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:19873217G>A	ENST00000300571.2	-	3	1300	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	GPRC5B_ENST00000537135.1_Missense_Mutation_p.P396L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.P370L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.P370L|GPRC5B_ENST00000569847.1_Missense_Mutation_p.P370L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	370					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.P370R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCTTCTAAACGGAGCGCTGGG	0.562																																																	1	Substitution - Missense(1)	lung(1)											121	100	107					16																	19873217		2197	4300	6497	SO:0001583	missense	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1109C>T	16.37:g.19873217G>A	ENSP00000300571:p.Pro370Leu		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.P396L	ENST00000300571.2	37	c.1187	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505899	0.85282	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.27720	1.67;1.66;1.65	5.31	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.46718	0.1407	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.32693	-0.9897	9	.	.	.	.	13.0052	0.58701	0.0775:0.0:0.9225:0.0	.	396;370	B7Z831;Q9NZH0	.;GPC5B_HUMAN	L	370;370;219;396	ENSP00000300571:P370L;ENSP00000442858:P370L;ENSP00000441775:P396L	.	P	-	2	0	GPRC5B	19780718	1.000000	0.71417	0.528000	0.27938	0.966000	0.64601	9.071000	0.93980	1.245000	0.43885	-0.136000	0.14681	CCG	GPRC5B	-	NULL	ENSG00000167191		0.562	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	-	0	48	0	G			19873217	-1	tier1	-	no_errors	ENST00000537135	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.997	A	A	19873217	G	A	19873217	3	1	79	1	0	0	0	0	1	0	0	0	6752	1116	39	1	110	1	GPRC5B	16	19873217	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	7210785	19873217	70481536	258	20914											
ACSM2A	123876	genome.wustl.edu	37	chr16	20488699	20488699	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttccacagggattaacTtgcatggtttccaagacaat	11	14	7	9	0	1	1	0	0	1	1	3	2	3	2	2	2	2	2	2	2	3	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:20488699T>G	ENST00000573854.1	+	9	1221	c.1107T>G	c.(1105-1107)acT>acG	p.T369T	ACSM2A_ENST00000219054.6_Silent_p.T369T|ACSM2A_ENST00000575690.1_Silent_p.T369T|ACSM2A_ENST00000396104.2_Silent_p.T369T|ACSM2A_ENST00000417235.2_Silent_p.T290T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.T141T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	369					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGGGATTAACTTGCATGGTTT	0.463																																																	0													48	45	46					16																	20488699		2202	4280	6482	SO:0001819	synonymous_variant	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1107T>G	16.37:g.20488699T>G			B3KTT9|O75202	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.T369	ENST00000573854.1	37	c.1107	CCDS32401.1	16																																																																																			ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.463	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1		0	86	0	T	NM_001010845		20488699	1			no_errors	ENST00000219054	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.032	G	G	20488699	T	G	20488699	2	3	79	1	0	0	0	0	0	0	0	1	183	1596	56	4		4	ACSM2A	16	20488699	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	615482	20488699	69866054	259	20915											
ACSM2B	348158	genome.wustl.edu	37	chr16	20557788	20557788	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtcttggaaaccatgcaAgttaatccctgtggaaagaa	14	11	9	7	0	1	1	0	0	1	1	2	3	2	3	2	2	2	2	2	2	5	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:20557788A>C	ENST00000329697.6	-	9	1275	c.1107T>G	c.(1105-1107)acT>acG	p.T369T	ACSM2B_ENST00000565322.1_Silent_p.T290T|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.T369T|ACSM2B_ENST00000565232.1_Silent_p.T369T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	369					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAACCATGCAAGTTAATCCCT	0.468																																																	0													51	51	51					16																	20557788		2199	4279	6478	SO:0001819	synonymous_variant	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1107T>G	16.37:g.20557788A>C			Q86YT1	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.T369	ENST00000329697.6	37	c.1107	CCDS10586.1	16																																																																																			ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.468	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0	47	0	A	NM_182617		20557788	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	silent	28.12	46	18	SNP	0.038	C	C	20557788	A	C	20557788	2	2	79	1	0	0	0	0	0	0	0	1	184	59	3	4		4	ACSM2B	16	20557788	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	69089	20557788	69796965	260	20916											
SCNN1G	6340	genome.wustl.edu	37	chr16	23200778	23200778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatggctttccagagtcccGgaagcgccgagaggcggagt	8	7	16	10	4	0	2	0	0	0	2	2	5	2	4	3	4	1	2	3	4	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:23200778G>A	ENST00000300061.2	+	3	547	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	135					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCAGAGTCCCGGAAGCGCCGA	0.582																																																	0													83	93	89					16																	23200778		2197	4300	6497	SO:0001583	missense	0			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.404G>A	16.37:g.23200778G>A	ENSP00000300061:p.Arg135Gln		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R135Q	ENST00000300061.2	37	c.404	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282894	0.23392	.	.	ENSG00000166828	ENST00000300061	T	0.62941	-0.01	5.75	5.75	0.90469	.	0.000000	0.47093	D	0.000248	T	0.38241	0.1033	N	0.14661	0.345	0.28172	N	0.928541	B	0.31193	0.312	B	0.23275	0.045	T	0.24297	-1.0164	10	0.12430	T	0.62	-12.7517	10.2237	0.43212	0.0936:0.0:0.9064:0.0	.	135	P51170	SCNNG_HUMAN	Q	135	ENSP00000300061:R135Q	ENSP00000300061:R135Q	R	+	2	0	SCNN1G	23108279	0.899000	0.30636	0.892000	0.35008	0.094000	0.18550	2.525000	0.45598	2.721000	0.93114	0.511000	0.50034	CGG	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000166828		0.582	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	-	0	41	0	G	NM_001039		23200778	1	tier1	-	no_errors	ENST00000300061	ensembl	human	known	74_37	missense	33.33	26	13	SNP	0.711	A	A	23200778	G	A	23200778	3	1	79	1	0	0	0	0	1	0	0	0	13975	1116	39	1	410	1	SCNN1G	16	23200778	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2642990	23200778	67153975	261	20917											
TBC1D10B	26000	genome.wustl.edu	37	chr16	30376900	30376900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccgagccacgtccacGggaatggagctctctctgca	7	7	12	15	4	2	0	0	0	2	0	4	3	3	2	3	2	4	3	3	2	1	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:30376900G>A	ENST00000409939.3	-	2	1052	c.972C>T	c.(970-972)ccC>ccT	p.P324P		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	324					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCACGTCCACGGGAATGGAGC	0.577																																																	0													80	77	78					16																	30376900		2197	4300	6497	SO:0001819	synonymous_variant	0			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.972C>T	16.37:g.30376900G>A			B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P324	ENST00000409939.3	37	c.972	CCDS10676.2	16																																																																																			TBC1D10B	-	NULL	ENSG00000169221		0.577	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	-	0	56	0	G	NM_015527		30376900	-1	tier1	-	no_errors	ENST00000409939	ensembl	human	known	74_37	silent	34.85	43	23	SNP	0.725	A	A	30376900	G	A	30376900	2	1	79	1	0	0	0	0	0	0	0	1	15646	1103	39	1		1	TBC1D10B	16	30376900	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	7176122	30376900	59977853	262	20918											
RNF40	9810	genome.wustl.edu	37	chr16	30779758	30779758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacctccacctgtagcctCcgctctctcaagggctgatc	7	9	9	16	1	2	1	1	1	1	0	6	2	4	2	5	2	1	3	5	2	2	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:30779758C>A	ENST00000324685.6	+	13	2321	c.1886C>A	c.(1885-1887)tCc>tAc	p.S629Y	RNF40_ENST00000357890.5_Missense_Mutation_p.S529Y|RNF40_ENST00000402121.3_Missense_Mutation_p.S321Y|RNF40_ENST00000563683.1_Missense_Mutation_p.S589Y	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	629					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCTGTAGCCTCCGCTCTCTCA	0.632																																																	0													47	59	55					16																	30779758		2164	4262	6426	SO:0001583	missense	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1886C>A	16.37:g.30779758C>A	ENSP00000325677:p.Ser629Tyr		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S629Y	ENST00000324685.6	37	c.1886	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288929	0.40494	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.34275	1.37;1.37;1.37	5.97	5.02	0.67125	.	0.372474	0.23622	N	0.046224	T	0.48187	0.1486	L	0.43152	1.355	0.21627	N	0.999619	D;D;D;D	0.64830	0.989;0.994;0.978;0.978	P;P;P;P	0.62560	0.769;0.904;0.598;0.598	T	0.40627	-0.9553	10	0.72032	D	0.01	-0.523	12.1763	0.54188	0.0:0.9205:0.0:0.0795	.	321;529;629;629	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	Y	629;529;321	ENSP00000325677:S629Y;ENSP00000350563:S529Y;ENSP00000384942:S321Y	ENSP00000325677:S629Y	S	+	2	0	RNF40	30687259	0.025000	0.19082	0.743000	0.31040	0.115000	0.19883	0.819000	0.27308	1.540000	0.49301	0.655000	0.94253	TCC	RNF40	-	NULL	ENSG00000103549		0.632	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	-	0	34	0	C	NM_014771		30779758	1	tier1	-	no_errors	ENST00000324685	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.408	A	A	30779758	C	A	30779758	3	1	79	1	0	0	0	0	1	0	0	0	13538	855	30	3	1932	3	RNF40	16	30779758	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	402858	30779758	59574995	263	20919											
ITGAX	3687	genome.wustl.edu	37	chr16	31374554	31374554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggggtcgctttggggcGgctctgacagtgctggggga	3	9	19	10	2	1	1	0	1	1	0	2	2	1	2	1	7	1	3	1	7	0	1	rs144979651		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:31374554G>A	ENST00000268296.4	+	14	1690	c.1569G>A	c.(1567-1569)gcG>gcA	p.A523A	ITGAX_ENST00000562522.1_Silent_p.A523A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCTTTGGGGCGGCTCTGACAG	0.617																																																	0								G		1,4393	2.1+/-5.4	0,1,2196	108	118	114		1569	-5.1	1	16	dbSNP_134	114	0,8600		0,0,4300	no	coding-synonymous	ITGAX	NM_000887.3		0,1,6496	AA,AG,GG		0.0,0.0228,0.0077		523/1164	31374554	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1569G>A	16.37:g.31374554G>A			Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A523	ENST00000268296.4	37	c.1569	CCDS10711.1	16																																																																																			ITGAX	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000140678		0.617	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	-	0	137	0	G	NM_000887		31374554	1	tier1	rs144979651	no_errors	ENST00000268296	ensembl	human	known	74_37	silent	31.79	102	48	SNP	0.025	A	A	31374554	G	A	31374554	2	1	79	1	0	0	0	0	0	0	0	1	7916	1103	39	1		1	ITGAX	16	31374554	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	594796	31374554	58980199	264	20920											
ITGAX	3687	genome.wustl.edu	37	chr16	31391152	31391152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagctgaaccaggaggcTgtgtggatggatgtggaggt	8	9	20	4	0	0	1	0	1	0	0	0	6	0	6	1	7	2	2	1	7	1	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:31391152T>C	ENST00000268296.4	+	25	3064	c.2943T>C	c.(2941-2943)gcT>gcC	p.A981A	ITGAX_ENST00000562522.1_Silent_p.A981A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	981					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACCAGGAGGCTGTGTGGATGG	0.587																																																	0													60	50	53					16																	31391152		2197	4300	6497	SO:0001819	synonymous_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2943T>C	16.37:g.31391152T>C			Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A981	ENST00000268296.4	37	c.2943	CCDS10711.1	16																																																																																			ITGAX	-	pfam_Integrin_alpha-2	ENSG00000140678		0.587	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	-	0	57	0	T	NM_000887		31391152	1	tier1	-	no_errors	ENST00000268296	ensembl	human	known	74_37	silent	28.85	37	15	SNP	0.038	C	C	31391152	T	C	31391152	2	2	79	1	0	0	0	0	0	0	0	1	7916	1567	55	4		4	ITGAX	16	31391152	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	16598	31391152	58963601	265	20921											
AHSP	51327	genome.wustl.edu	37	chr16	31539954	31539954	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaaccctttcctggccaAgtacagggacttcctgaagt	9	9	10	13	0	0	1	0	1	0	0	2	2	2	2	5	3	2	1	5	3	4	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:31539954A>C	ENST00000302312.4	+	3	354	c.251A>C	c.(250-252)aAg>aCg	p.K84T	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	84					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						TTCCTGGCCAAGTACAGGGAC	0.592																																																	0													53	48	50					16																	31539954		2197	4300	6497	SO:0001583	missense	0			AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"alpha hemoglobin stabilising protein"	605821	"erythroid associated factor"	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.251A>C	16.37:g.31539954A>C	ENSP00000307199:p.Lys84Thr		Q8TD01	Missense_Mutation	SNP	pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot	p.K84T	ENST00000302312.4	37	c.251	CCDS10716.1	16	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931242	0.52866	.	.	ENSG00000169877	ENST00000302312	D	0.82255	-1.59	5.54	4.46	0.54185	.	0.202110	0.34411	N	0.004000	D	0.83677	0.5306	L	0.36672	1.1	0.28535	N	0.912379	D	0.53151	0.958	P	0.61592	0.891	T	0.77651	-0.2508	10	0.87932	D	0	.	8.067	0.30667	0.908:0.0:0.092:0.0	.	84	Q9NZD4	AHSP_HUMAN	T	84	ENSP00000307199:K84T	ENSP00000307199:K84T	K	+	2	0	AHSP	31447455	1.000000	0.71417	0.140000	0.22221	0.176000	0.22953	2.520000	0.45554	0.939000	0.37446	0.533000	0.62120	AAG	AHSP	-	pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot	ENSG00000169877		0.592	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSP	HGNC	protein_coding	OTTHUMT00000255624.1	-	0	58	0	A	NM_016633		31539954	1	tier1	-	no_errors	ENST00000302312	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.877	C	C	31539954	A	C	31539954	3	2	79	1	0	0	0	0	1	0	0	0	421	72	3	4	257	4	AHSP	16	31539954	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	148802	31539954	58814799	266	20922											
CNOT1	23019	genome.wustl.edu	37	chr16	58585583	58585583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaggtggttaccatagtGctaacttgaccagcaagagg	11	10	13	7	0	0	3	0	2	0	1	0	3	0	3	2	3	4	4	2	3	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:58585583G>T	ENST00000317147.5	-	23	3443	c.3111C>A	c.(3109-3111)agC>agA	p.S1037R	CNOT1_ENST00000569240.1_Missense_Mutation_p.S1032R|CNOT1_ENST00000245138.4_5'Flank|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1037R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1037					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTACCATAGTGCTAACTTGAC	0.498																																																	0													147	137	140					16																	58585583		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3111C>A	16.37:g.58585583G>T	ENSP00000320949:p.Ser1037Arg		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.S1037R	ENST00000317147.5	37	c.3111	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286274	0.80803	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.46819	0.88;0.86	5.41	5.41	0.78517	.	0.037076	0.85682	D	0.000000	T	0.50446	0.1616	N	0.14661	0.345	0.80722	D	1	B;P;D	0.67145	0.13;0.766;0.996	B;B;D	0.66497	0.075;0.243;0.944	T	0.44544	-0.9321	10	0.17832	T	0.49	.	19.189	0.93656	0.0:0.0:1.0:0.0	.	1037;1037;1032	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	1037;466;1032;1037	ENSP00000320949:S1037R;ENSP00000413113:S1037R	ENSP00000320949:S1037R	S	-	3	2	CNOT1	57143084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.930000	0.63462	2.540000	0.85666	0.563000	0.77884	AGC	CNOT1	-	NULL	ENSG00000125107		0.498	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3		0	49	0	G	NM_016284		58585583	-1			no_errors	ENST00000317147	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	T	T	58585583	G	T	58585583	3	4	79	1	0	0	0	0	1	0	0	0	3624	1310	46	3	4349	3	CNOT1	16	58585583	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	27045629	58585583	31769170	267	20923											
CDH11	1009	genome.wustl.edu	37	chr16	65022113	65022113	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtccgttgtgatttcaaAcgattccataccatctccat	11	14	5	11	2	2	1	1	1	1	0	5	2	4	1	4	0	2	1	4	0	3	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:65022113A>C	ENST00000268603.4	-	7	1561	c.946T>G	c.(946-948)Ttt>Gtt	p.F316V	CDH11_ENST00000566827.1_Missense_Mutation_p.F190V|CDH11_ENST00000394156.3_Missense_Mutation_p.F316V	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	316	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTGATTTCAAACGATTCCATA	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													369	309	329					16																	65022113		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.946T>G	16.37:g.65022113A>C	ENSP00000268603:p.Phe316Val		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F316V	ENST00000268603.4	37	c.946	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	26.7	4.765797	0.90020	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.71817	-0.6;-0.6	5.65	5.65	0.86999	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86797	0.6019	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.995	D	0.89536	0.3789	10	0.87932	D	0	.	15.0511	0.71872	1.0:0.0:0.0:0.0	.	316;316	P55287-2;P55287	.;CAD11_HUMAN	V	316;316;299	ENSP00000268603:F316V;ENSP00000377711:F316V	ENSP00000268603:F316V	F	-	1	0	CDH11	63579614	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.152000	0.67230	0.528000	0.53228	TTT	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140937		0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	55	0	A	NM_033664		65022113	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	65.62	11	21	SNP	1.000	C	C	65022113	A	C	65022113	3	2	79	1	0	0	0	0	1	0	0	0	3104	43	2	4	1472	4	CDH11	16	65022113	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	6436530	65022113	25332640	268	20924											
CDH11	1009	genome.wustl.edu	37	chr16	65032509	65032509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatgataggtctcgtgcAggaactccggagggttgtca	8	10	15	8	2	2	1	1	1	1	0	4	3	3	3	1	5	2	3	1	5	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:65032509A>G	ENST00000268603.4	-	4	1094	c.479T>C	c.(478-480)cTg>cCg	p.L160P	CDH11_ENST00000566827.1_Missense_Mutation_p.L34P|CDH11_ENST00000394156.3_Missense_Mutation_p.L160P	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	160	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGTCTCGTGCAGGAACTCCGG	0.592			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													139	121	127					16																	65032509		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.479T>C	16.37:g.65032509A>G	ENSP00000268603:p.Leu160Pro		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L160P	ENST00000268603.4	37	c.479	CCDS10803.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.23|12.23	1.876851|1.876851	0.33162|0.33162	.|.	.|.	ENSG00000140937|ENSG00000140937	ENST00000536902|ENST00000268603;ENST00000394156;ENST00000538390	.|T;T	.|0.61158	.|0.22;0.13	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Cadherin (3);Cadherin-like (1);	.|0.068797	.|0.56097	.|D	.|0.000025	T|T	0.45357|0.45357	0.1338|0.1338	N|N	0.25485|0.25485	0.75|0.75	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22480	.|0.07;0.0	.|B;B	.|0.18871	.|0.023;0.002	T|T	0.35500|0.35500	-0.9786|-0.9786	6|10	0.87932|0.37606	D|T	0|0.19	.|.	14.7646|14.7646	0.69629|0.69629	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|160;160	.|P55287-2;P55287	.|.;CAD11_HUMAN	R|P	154|160;160;143	.|ENSP00000268603:L160P;ENSP00000377711:L160P	ENSP00000442264:C154R|ENSP00000268603:L160P	C|L	-|-	1|2	0|0	CDH11|CDH11	63590010|63590010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.222000|4.222000	0.58580|0.58580	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	TGC|CTG	CDH11	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000140937		0.592	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	32	0	A	NM_033664		65032509	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	64.29	10	18	SNP	1.000	G	G	65032509	A	G	65032509	3	3	79	1	0	0	0	0	1	0	0	0	3104	188	7	4	1951	4	CDH11	16	65032509	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	10396	65032509	25322244	269	20925											
RLTPR	146206	genome.wustl.edu	37	chr16	67681024	67681024	+	Frame_Shift_Del	DEL	T	T	-																															ccaccctcccaccagggaccTggccttgagtgtggctgccc																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:67681024delT	ENST00000334583.6	+	9	945	c.617delT	c.(616-618)ctgfs	p.L206fs	RLTPR_ENST00000545661.1_Frame_Shift_Del_p.L206fs	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	206					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACCAGGGACCTGGCCTTGAGT	0.652																																																	0													38	41	40					16																	67681024		2009	4185	6194	SO:0001589	frameshift_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein", "leucine rich repeat containing 16C"	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.617delT	16.37:g.67681024delT	ENSP00000334958:p.Leu206fs		B8X2Z3	Frame_Shift_Del	DEL	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L206fs	ENST00000334583.6	37	c.617	CCDS45513.1	16																																																																																			RLTPR	-	NULL	ENSG00000159753		0.652	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1		0	48	0	T	NM_001013838		67681024	1	tier1		no_errors	ENST00000334583	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	67681024	T	-	67681024	7	5	79	1	0	1	0	1	0	0	0	0	13439	1580	55	0	651	0	RLTPR	16	67681024	Frame_Shift_Del	DEL	T	TCGA-L5-A8NE-01A-11D-A37C-09	2648515	67681024	22673729	270	20926											
TAF1C	9013	genome.wustl.edu	37	chr16	84217326	84217326	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggaggcagcatggggAgaggcccaggggttgccggc	7	4	22	8	1	0	2	0	1	0	1	0	4	0	3	2	9	2	3	2	9	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr16:84217326A>T	ENST00000567759.1	-	3	379	c.197T>A	c.(196-198)cTc>cAc	p.L66H	TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.L66H|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000341690.6_5'UTR|TAF1C_ENST00000378541.4_Missense_Mutation_p.L66H|TAF1C_ENST00000541676.1_5'UTR	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	66					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CAGCATGGGGAGAGGCCCAGG	0.597																																																	0													69	67	68					16																	84217326		2200	4300	6500	SO:0001583	missense	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.197T>A	16.37:g.84217326A>T	ENSP00000455265:p.Leu66His		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.L66H	ENST00000567759.1	37	c.197	CCDS32496.1	16	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584260	0.46110	.	.	ENSG00000103168	ENST00000378541;ENST00000537450	T	0.46819	0.86	4.35	4.35	0.52113	.	0.256859	0.26096	N	0.026366	T	0.62950	0.2470	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.66351	0.912;0.943;0.939	T	0.66337	-0.5949	10	0.72032	D	0.01	-14.9608	9.8419	0.41004	1.0:0.0:0.0:0.0	.	66;66;66	F5H7W6;Q15572-6;Q15572	.;.;TAF1C_HUMAN	H	66	ENSP00000367802:L66H	ENSP00000367802:L66H	L	-	2	0	TAF1C	82774827	0.968000	0.33430	0.988000	0.46212	0.283000	0.27025	1.998000	0.40796	1.824000	0.53156	0.533000	0.62120	CTC	TAF1C	-	NULL	ENSG00000103168		0.597	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	-	0	24	0	A	NM_139353		84217326	-1	tier1	-	no_errors	ENST00000378541	ensembl	human	known	74_37	missense	63.64	8	14	SNP	0.958	T	T	84217326	A	T	84217326	3	4	79	1	0	0	0	0	1	0	0	0	15568	304	11	5	2460	5	TAF1C	16	84217326	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	16536302	84217326	6137427	271	20927											
SPNS2	124976	genome.wustl.edu	37	chr17	4439393	4439393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtcatccccacgcggcGcgccactgccgtggccttgc	3	7	13	18	6	1	0	1	0	0	0	2	0	2	0	5	3	2	0	5	3	0	1	rs373813846		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:4439393G>C	ENST00000329078.3	+	10	1577	c.1367G>C	c.(1366-1368)cGc>cCc	p.R456P		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	456					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CCCACGCGGCGCGCCACTGCC	0.701																																																	0													28	27	27					17																	4439393		1567	3579	5146	SO:0001583	missense	0			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1367G>C	17.37:g.4439393G>C	ENSP00000333292:p.Arg456Pro		B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R456P	ENST00000329078.3	37	c.1367	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265835	0.80358	.	.	ENSG00000183018	ENST00000329078	T	0.64260	-0.09	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86175	0.1602	10	0.87932	D	0	.	16.1249	0.81386	0.0:0.0:1.0:0.0	.	456	Q8IVW8	SPNS2_HUMAN	P	456	ENSP00000333292:R456P	ENSP00000333292:R456P	R	+	2	0	SPNS2	4386142	1.000000	0.71417	0.958000	0.39756	0.284000	0.27059	7.463000	0.80869	2.667000	0.90743	0.563000	0.77884	CGC	SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000183018		0.701	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	-	0	22	0	G			4439393	1	tier1	-	no_errors	ENST00000329078	ensembl	human	known	74_37	missense	22.73	15	5	SNP	1.000	C	C	4439393	G	C	4439393	3	2	79	1	0	0	0	0	1	0	0	0	15122	1087	38	5	1405	5	SPNS2	17	4439393	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09		4439393	76755817	272	20928											
MINK1	100130311	genome.wustl.edu	37	chr17	4800531	4800531	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtccgctctgggggcagCagccaagtttacttcatgac	8	10	11	12	1	3	1	2	1	1	0	4	1	4	1	2	2	3	4	2	2	2	3	rs368980803		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:4800531C>T	ENST00000381365.3	+	0	0				C17orf107_ENST00000521575.1_5'Flank|MINK1_ENST00000347992.7_Silent_p.S1287S|MINK1_ENST00000453408.3_Silent_p.S1296S|MINK1_ENST00000355280.6_Silent_p.S1316S	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107											endometrium(2)	2						CTGGGGGCAGCAGCCAAGTTT	0.602																																																	0								C	,,,	0,3846		0,0,1923	67	70	69		3888,3837,3948,3861	4.1	1	17		69	2,8274		0,2,4136	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MINK1	NM_001024937.3,NM_015716.4,NM_153827.4,NM_170663.4	,,,	0,2,6059	TT,TC,CC		0.0242,0.0,0.0165	,,,	1296/1313,1279/1296,1316/1333,1287/1304	4800531	2,12120	1923	4138	6061	SO:0001631	upstream_gene_variant	0			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838		17.37:g.4800531C>T	Exception_encountered			Silent	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.S1316	ENST00000381365.3	37	c.3948	CCDS45591.1	17																																																																																			MINK1	-	NULL	ENSG00000141503		0.602	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000380556.1	-	0	77	0	C	NM_001145536		4800531	1	tier1	-	no_errors	ENST00000355280	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	4800531	C	T	4800531	1	4	79	0	1	0	0	0	0	0	0	0	9625	709	25	3		3	MINK1	17	4800531	5'Flank	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	361138	4800531	76394679	273	20929											
NLRP1	22861	genome.wustl.edu	37	chr17	5456834	5456834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccttgaggacggagaaGagaatctgccaataggcatc	13	7	13	8	1	1	4	0	2	1	2	2	7	1	5	2	3	1	1	2	3	4	2	rs200218955		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:5456834G>A	ENST00000572272.1	-	5	2399	c.2400C>T	c.(2398-2400)ctC>ctT	p.L800L	NLRP1_ENST00000577119.1_Silent_p.L800L|NLRP1_ENST00000345221.3_Silent_p.L800L|NLRP1_ENST00000262467.5_Silent_p.L800L|NLRP1_ENST00000269280.4_Silent_p.L800L|NLRP1_ENST00000354411.3_Silent_p.L800L|NLRP1_ENST00000571307.1_5'UTR			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	800					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGACGGAGAAGAGAATCTGCC	0.537																																																	0													85	77	80					17																	5456834		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2400C>T	17.37:g.5456834G>A			E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.L800	ENST00000572272.1	37	c.2400	CCDS42246.1	17																																																																																			NLRP1	-	NULL	ENSG00000091592		0.537	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	-	0	56	0	G	NM_033004		5456834	-1	tier1	-	no_errors	ENST00000572272	ensembl	human	known	74_37	silent	30.65	43	19	SNP	0.909	A	A	5456834	G	A	5456834	2	1	79	1	0	0	0	0	0	0	0	1	10510	929	33	3		3	NLRP1	17	5456834	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	656303	5456834	75738376	274	20930											
MYH2	4620	genome.wustl.edu	37	chr17	10426981	10426981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcagccatcatggcGgcctaaatagcaaataaatc	14	8	7	12	1	2	0	2	0	0	0	4	0	3	0	3	2	3	2	3	2	6	3	rs1126624|rs562803081		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:10426981G>A	ENST00000245503.5	-	37	5688	c.5304C>T	c.(5302-5304)gcC>gcT	p.A1768A	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Silent_p.A1768A|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1768					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCATCATGGCGGCCTAAATAG	0.488													g|||	1	0.000199681	0	0	5008	,	,		19396	0		0	False		,,,				2504	0.001																0													104	106	106					17																	10426981		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5304C>T	17.37:g.10426981G>A			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1768	ENST00000245503.5	37	c.5304	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail	ENSG00000125414		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	110	0	G	NM_017534		10426981	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	73.24	18	52	SNP	0.061	A	A	10426981	G	A	10426981	2	1	79	1	0	0	0	0	0	0	0	1	10073	1103	39	1		1	MYH2	17	10426981	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	4970147	10426981	70768229	275	20931											
NF1	4763	genome.wustl.edu	37	chr17	29528504	29528504	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgaatcatcaccaatGtaagtccaaaaggtattgct	14	11	6	10	1	2	0	2	0	0	0	5	1	4	0	3	1	1	3	3	1	6	3	rs267606603		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:29528504G>T	ENST00000358273.4	+	11	1643		c.e11+1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(8)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATCACCAATGTAAGTCCAAA	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	16	Whole gene deletion(8)|Unknown(8)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CS064442	NF1	S							78	86	83					17																	29528504		2203	4295	6498	SO:0001630	splice_region_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1260+1G>T	17.37:g.29528504G>T			O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	-	e11+1	ENST00000358273.4	37	c.1260+1	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404549	0.62288	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6538	0.91441	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26552630	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	9.096000	0.94182	2.412000	0.81896	0.491000	0.48974	.	NF1	-	-	ENSG00000196712		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2		0	26	0	G	NM_000267	Intron	29528504	1			no_errors	ENST00000358273	ensembl	human	known	74_37	splice_site	5.26	36	2	SNP	1.000	T	T	29528504	G	T	29528504	5	4	79	1	0	0	0	0	0	0	1	0	10395	1391	48	3	1303	3	NF1	17	29528504	Splice_Site	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	19101523	29528504	51666706	276	20932											
TNS4	84951	genome.wustl.edu	37	chr17	38643518	38643518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcatgttctttggccAgtggtggagagtggggtgtt	4	14	18	5	0	1	1	0	0	1	1	1	2	1	1	1	6	1	4	1	6	0	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:38643518A>G	ENST00000254051.6	-	4	1216	c.1058T>C	c.(1057-1059)cTg>cCg	p.L353P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	353					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TTCTTTGGCCAGTGGTGGAGA	0.577																																																	0													154	142	146					17																	38643518		2203	4300	6503	SO:0001583	missense	0			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1058T>C	17.37:g.38643518A>G	ENSP00000254051:p.Leu353Pro		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2	p.L353P	ENST00000254051.6	37	c.1058	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	A	7.087	0.571314	0.13623	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.18960	2.18	5.23	2.87	0.33458	.	8.536320	0.00166	N	0.000000	T	0.16642	0.0400	L	0.27053	0.805	0.09310	N	0.999999	B	0.10296	0.003	B	0.10450	0.005	T	0.18398	-1.0338	10	0.38643	T	0.18	-1.1318	3.8915	0.09120	0.6354:0.0:0.0946:0.2699	.	353	Q8IZW8	TENS4_HUMAN	P	353	ENSP00000254051:L353P	ENSP00000254051:L353P	L	-	2	0	TNS4	35897044	0.003000	0.15002	0.143000	0.22291	0.659000	0.38960	0.730000	0.26043	0.828000	0.34709	0.533000	0.62120	CTG	TNS4	-	NULL	ENSG00000131746		0.577	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	-	0	97	0	A	NM_032865		38643518	-1	tier1	-	no_errors	ENST00000254051	ensembl	human	known	74_37	missense	27.27	48	18	SNP	0.002	G	G	38643518	A	G	38643518	3	3	79	1	0	0	0	0	1	0	0	0	16392	188	7	4	1129	4	TNS4	17	38643518	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	9115014	38643518	42551692	277	20933											
RAB5C	5878	genome.wustl.edu	37	chr17	40282413	40282413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgacaaagcggaggacgagGctggatttgcctaccgcaga	11	7	14	9	3	0	2	0	1	0	1	0	6	0	5	2	4	3	2	2	4	2	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:40282413G>A	ENST00000346213.4	-	2	320	c.108C>T	c.(106-108)agC>agT	p.S36S	RAB5C_ENST00000393860.3_Silent_p.S36S|RAB5C_ENST00000547517.1_Silent_p.S69S|CTD-2132N18.3_ENST00000592574.1_Silent_p.S36S	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	36					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GGAGGACGAGGCTGGATTTGC	0.587																																																	0													91	76	81					17																	40282413		2203	4300	6503	SO:0001819	synonymous_variant	0			U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"RAB, member RAS oncogene"	9785	protein-coding gene	gene with protein product	"RAB, member of RAS oncogene family-like", "RAB5C, member of RAS oncogene family"	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.108C>T	17.37:g.40282413G>A			F8W1H5|Q6FH55|Q9P0Y5	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S36	ENST00000346213.4	37	c.108	CCDS11419.1	17																																																																																			RAB5C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000108774		0.587	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB5C	HGNC	protein_coding	OTTHUMT00000405509.1	-	0	57	0	G	NM_004583		40282413	-1	tier1	-	no_errors	ENST00000346213	ensembl	human	known	74_37	silent	7.55	47	4	SNP	1.000	A	A	40282413	G	A	40282413	2	1	79	1	0	0	0	0	0	0	0	1	12995	1194	42	3		3	RAB5C	17	40282413	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1638895	40282413	40912797	278	20934											
FZD2	2535	genome.wustl.edu	37	chr17	42635388	42635388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggccatcccgccgtgccGctctatctgtgagcgcgcgc	5	7	12	17	6	2	1	0	1	2	0	3	1	3	1	4	1	2	1	4	1	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:42635388G>A	ENST00000315323.3	+	1	464	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	111	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGCCGTGCCGCTCTATCTGT	0.662																																																	0													63	67	65					17																	42635388		2203	4300	6503	SO:0001583	missense	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.332G>A	17.37:g.42635388G>A	ENSP00000323901:p.Arg111His		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R111H	ENST00000315323.3	37	c.332	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	22.7	4.319593	0.81469	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.84070	-1.8	3.99	3.99	0.46301	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.93070	0.7794	M	0.93763	3.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95121	0.8246	10	0.87932	D	0	.	15.7054	0.77577	0.0:0.0:1.0:0.0	.	111	Q14332	FZD2_HUMAN	H	187;111	ENSP00000323901:R111H	ENSP00000323901:R111H	R	+	2	0	FZD2	39990914	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.666000	0.83877	1.753000	0.51906	0.462000	0.41574	CGC	FZD2	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000180340		0.662	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1		0	53	0	G	NM_001466		42635388	1			no_errors	ENST00000315323	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	42635388	G	A	42635388	3	1	79	1	0	0	0	0	1	0	0	0	6154	1087	38	1	334	1	FZD2	17	42635388	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2352975	42635388	38559822	279	20935											
CALCOCO2	10241	genome.wustl.edu	37	chr17	46919216	46919216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accttcacccagcatttcatCcctcgtcgaaaggattggat	10	11	7	13	2	2	0	2	0	0	0	5	3	3	2	3	2	1	1	3	2	1	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:46919216C>T	ENST00000258947.3	+	2	248	c.147C>T	c.(145-147)atC>atT	p.I49I	CALCOCO2_ENST00000416445.2_Silent_p.I49I|CALCOCO2_ENST00000448105.2_Silent_p.I49I|CALCOCO2_ENST00000508679.1_Intron|CALCOCO2_ENST00000509507.1_Silent_p.I49I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	49					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGCATTTCATCCCTCGTCGAA	0.428																																																	0													165	147	153					17																	46919216		2203	4300	6503	SO:0001819	synonymous_variant	0			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.147C>T	17.37:g.46919216C>T			B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	pfam_CoCoA	p.I49	ENST00000258947.3	37	c.147	CCDS11538.1	17																																																																																			CALCOCO2	-	pfam_CoCoA	ENSG00000136436		0.428	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCOCO2	HGNC	protein_coding	OTTHUMT00000360866.1	-	0	66	0	C	NM_005831		46919216	1	tier1	-	no_errors	ENST00000258947	ensembl	human	known	74_37	silent	20.97	49	13	SNP	0.111	T	T	46919216	C	T	46919216	2	4	79	1	0	0	0	0	0	0	0	1	2585	845	30	3		3	CALCOCO2	17	46919216	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	4283828	46919216	34275994	280	20936											
FAM117A	81558	genome.wustl.edu	37	chr17	47810056	47810056	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctacacactgacttttCtggggccaccgagcatggga	9	8	12	12	1	1	1	0	1	1	0	1	3	1	2	3	4	2	1	3	4	1	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:47810056C>A	ENST00000240364.2	-	2	302	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	75										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ACTGACTTTTCTGGGGCCACC	0.597																																																	0													96	70	79					17																	47810056		2203	4300	6503	SO:0001587	stop_gained	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.223G>T	17.37:g.47810056C>A	ENSP00000240364:p.Glu75*		B7Z7Q3	Nonsense_Mutation	SNP	NULL	p.E75*	ENST00000240364.2	37	c.223	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.281732	0.97440	.	.	ENSG00000121104	ENST00000240364;ENST00000506156	.	.	.	5.28	5.28	0.74379	.	0.129591	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-13.1277	16.8737	0.86046	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000240364:E75X	E	-	1	0	FAM117A	45165055	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.116000	0.57871	2.746000	0.94184	0.655000	0.94253	GAA	FAM117A	-	NULL	ENSG00000121104		0.597	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0	39	0	C	NM_030802		47810056	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	nonsense	36.67	19	11	SNP	1.000	A	A	47810056	C	A	47810056	4	1	79	1	0	0	0	0	0	1	0	0	5428	922	32	3	1166	3	FAM117A	17	47810056	Nonsense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	890840	47810056	33385154	281	20937											
KIF2B	84643	genome.wustl.edu	37	chr17	51901450	51901450	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagctggacctcaaagtCtatgggacattttttgagat	12	12	11	6	0	2	2	1	1	1	2	2	6	2	4	1	2	1	1	1	2	3	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:51901450C>T	ENST00000268919.4	+	1	1212	c.1056C>T	c.(1054-1056)gtC>gtT	p.V352V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	352	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTCAAAGTCTATGGGACAT	0.453																																																	0													100	106	104					17																	51901450		2203	4300	6503	SO:0001819	synonymous_variant	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1056C>T	17.37:g.51901450C>T			Q96MA2|Q9BXG6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V352	ENST00000268919.4	37	c.1056	CCDS32685.1	17																																																																																			KIF2B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000141200		0.453	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0	22	0	C	NM_032559		51901450	1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	silent	19.05	17	4	SNP	1.000	T	T	51901450	C	T	51901450	2	4	79	1	0	0	0	0	0	0	0	1	8325	900	32	3		3	KIF2B	17	51901450	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	4091394	51901450	29293760	282	20938											
QRICH2	84074	genome.wustl.edu	37	chr17	74277968	74277969	+	Frame_Shift_Ins	INS	-	-	A																															ctctggagcttggccttcttINSggagggtcgggagacggcca																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:74277968_74277969insA	ENST00000262765.5	-	8	3920_3921	c.3741_3742insT	c.(3739-3744)tccaagfs	p.K1248fs		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1248										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTGGCCTTCTTGGAGGGTCGGG	0.644																																																	0																																										SO:0001589	frameshift_variant	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3741_3742insT	17.37:g.74277968_74277969insA	ENSP00000262765:p.Lys1248fs		A2RRE1|Q96LM3	Frame_Shift_Ins	INS	NULL	p.K1247fs	ENST00000262765.5	37	c.3742_3741	CCDS32741.1	17																																																																																			QRICH2	-	NULL	ENSG00000129646		0.644	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1		0	49	0	-	NM_032134		74277969	-1	tier1		no_errors	ENST00000262765	ensembl	human	known	74_37	frame_shift_ins	11.76	15	2	INS	1.000:0.999	A	A	74277969	-	A	74277968	7	5	79	1	0	1	1	0	0	0	0	0	12925	1821	63	0	1297	0	QRICH2	17	74277968	Frame_Shift_Ins	INS	-	TCGA-L5-A8NE-01A-11D-A37C-09	22376518	74277968	6917242	283	20939											
RPTOR	57521	genome.wustl.edu	37	chr17	78617542	78617542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcagatcctctgtcgatgGgtcctcagaaagctctggaa	9	10	10	12	1	4	2	2	0	2	2	7	4	6	3	3	2	1	1	3	2	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr17:78617542G>T	ENST00000306801.3	+	3	642	c.280G>T	c.(280-282)Ggt>Tgt	p.G94C	RPTOR_ENST00000537330.1_Intron|RPTOR_ENST00000570891.1_Missense_Mutation_p.G94C|RPTOR_ENST00000544334.2_Missense_Mutation_p.G94C	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	94					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTGTCGATGGGTCCTCAGAA	0.468																																																	0													120	104	110					17																	78617542		2203	4300	6503	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.280G>T	17.37:g.78617542G>T	ENSP00000307272:p.Gly94Cys		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.G94C	ENST00000306801.3	37	c.280	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233443	0.58886	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.45668	0.9;0.89	5.61	5.61	0.85477	.	0.066781	0.64402	D	0.000014	T	0.49729	0.1574	N	0.24115	0.695	0.80722	D	1	D;B	0.69078	0.997;0.291	P;B	0.61132	0.884;0.161	T	0.52094	-0.8621	10	0.62326	D	0.03	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	94;94	F5H7J5;Q8N122	.;RPTOR_HUMAN	C	94	ENSP00000307272:G94C;ENSP00000442479:G94C	ENSP00000307272:G94C	G	+	1	0	RPTOR	76232137	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.551000	0.73909	2.631000	0.89168	0.655000	0.94253	GGT	RPTOR	-	NULL	ENSG00000141564		0.468	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	-	0	69	0	G	NM_020761		78617542	1	tier1	-	no_errors	ENST00000306801	ensembl	human	known	74_37	missense	8.51	42	4	SNP	1.000	T	T	78617542	G	T	78617542	3	4	79	1	0	0	0	0	1	0	0	0	13710	1232	43	3	290	3	RPTOR	17	78617542	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	4339574	78617542	2577668	284	20940											
MYOM1	8736	genome.wustl.edu	37	chr18	3067396	3067396	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagcccgtatttgcccGagtcagcggtgctcacgccg	7	7	11	16	5	2	0	2	0	0	0	2	1	2	0	4	1	5	2	4	1	2	2	rs374904841		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:3067396G>T	ENST00000356443.4	-	38	5255	c.4922C>A	c.(4921-4923)tCg>tAg	p.S1641*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.S1545*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.S1641*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1641	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTATTTGCCCGAGTCAGCGGT	0.602																																																	0													77	81	80					18																	3067396		2203	4300	6503	SO:0001587	stop_gained	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7613	protein-coding gene	gene with protein product	"skelemin"	603508	"myomesin 1 (skelemin) (185kD)", "myomesin 1 (skelemin) 185kDa", "myomesin 1, 185kDa"			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.4922C>A	18.37:g.3067396G>T	ENSP00000348821:p.Ser1641*		Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1641*	ENST00000356443.4	37	c.4922	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	G	46	12.617811	0.99683	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.79	5.79	0.91817	.	0.171467	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	X	1641;1641;1545	.	ENSP00000261606:S1545X	S	-	2	0	MYOM1	3057396	1.000000	0.71417	0.963000	0.40424	0.594000	0.36715	7.896000	0.87350	2.734000	0.93682	0.655000	0.94253	TCG	MYOM1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101605		0.602	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2		0	56	0	G	NM_003803		3067396	-1			no_errors	ENST00000356443	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	1.000	T	T	3067396	G	T	3067396	4	4	79	1	0	0	0	0	0	1	0	0	10129	1059	37	2	139	2	MYOM1	18	3067396	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09		3067396	75009852	285	20941											
CHST9	83539	genome.wustl.edu	37	chr18	24496569	24496569	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggataaactctttgaacTtgactccagatccattaatt	13	14	6	8	0	1	3	0	2	1	1	3	4	3	4	2	1	2	0	2	1	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:24496569T>G	ENST00000284224.8	-	6	1263	c.986A>C	c.(985-987)aAg>aCg	p.K329T	AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K329T	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	329					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTCTTTGAACTTGACTCCAGA	0.418																																																	0													142	137	138					18																	24496569		1904	4110	6014	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.986A>C	18.37:g.24496569T>G	ENSP00000284224:p.Lys329Thr		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.K329T	ENST00000284224.8	37	c.986	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	T	1.575	-0.533017	0.04112	.	.	ENSG00000154080	ENST00000284224	T	0.72615	-0.67	6.17	2.49	0.30216	.	0.214382	0.41938	D	0.000787	T	0.43986	0.1272	N	0.02158	-0.66	0.80722	D	1	B	0.09022	0.002	B	0.17098	0.017	T	0.11616	-1.0580	10	0.31617	T	0.26	-12.2193	13.2521	0.60057	0.0:0.1491:0.0:0.8509	.	329	Q7L1S5	CHST9_HUMAN	T	329	ENSP00000284224:K329T	ENSP00000284224:K329T	K	-	2	0	CHST9	22750567	0.999000	0.42202	0.993000	0.49108	0.700000	0.40528	1.620000	0.36976	-0.021000	0.14009	-1.715000	0.00711	AAG	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.418	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	-	0	57	0	T	NM_031422		24496569	-1	tier1	-	no_errors	ENST00000284224	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.769	G	G	24496569	T	G	24496569	3	3	79	1	0	0	0	0	1	0	0	0	3418	1609	56	4	349	4	CHST9	18	24496569	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	21429173	24496569	53580679	286	20942											
MOCOS	55034	genome.wustl.edu	37	chr18	33779985	33779985	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagtcagataccccctGtcctggatagaagaggtcaa	11	9	11	10	0	3	3	2	0	1	3	4	5	4	5	3	3	1	0	3	3	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:33779985G>T	ENST00000261326.5	+	4	660	c.639G>T	c.(637-639)ctG>ctT	p.L213L		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.L213L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATACCCCCTGTCCTGGATAG	0.577																																																	1	Substitution - coding silent(1)	lung(1)											74	75	75					18																	33779985		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.639G>T	18.37:g.33779985G>T				Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom	p.L213	ENST00000261326.5	37	c.639	CCDS11919.1	18																																																																																			MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	ENSG00000075643		0.577	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1		0	49	0	G			33779985	1			no_errors	ENST00000261326	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.061	T	T	33779985	G	T	33779985	2	4	79	1	0	0	0	0	0	0	0	1	9727	1364	48	3		3	MOCOS	18	33779985	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	9283416	33779985	44297263	287	20943											
TCEB3B	51224	genome.wustl.edu	37	chr18	44560946	44560946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggcgtttttcctggcgAgacgatttgtgccccttgct	5	13	13	10	3	0	1	0	0	0	1	1	3	1	1	3	3	2	2	3	3	1	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:44560946A>G	ENST00000332567.4	-	1	1042	c.690T>C	c.(688-690)tcT>tcC	p.S230S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	230					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCCTGGCGAGACGATTTGT	0.607																																																	0													41	42	41					18																	44560946		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.690T>C	18.37:g.44560946A>G			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.S230	ENST00000332567.4	37	c.690	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0	71	0	A	NM_016427		44560946	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	silent	74.00	13	37	SNP	0.001	G	G	44560946	A	G	44560946	2	3	79	1	0	0	0	0	0	0	0	1	15729	291	11	4		4	TCEB3B	18	44560946	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	10780961	44560946	33516302	288	20944											
DYM	54808	genome.wustl.edu	37	chr18	46889556	46889556	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatatcagtgatcaactGcatcaaacagcacagcaatt	16	9	7	9	0	3	1	3	1	0	0	3	2	3	2	0	1	5	3	0	1	5	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:46889556G>A	ENST00000269445.6	-	6	926	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	DYM_ENST00000578396.1_Nonsense_Mutation_p.Q2*|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	157					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTGATCAACTGCATCAAACAG	0.348																																																	0													112	108	110					18																	46889556		2203	4300	6503	SO:0001587	stop_gained	0			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.469C>T	18.37:g.46889556G>A	ENSP00000269445:p.Gln157*		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Nonsense_Mutation	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.Q157*	ENST00000269445.6	37	c.469	CCDS11937.1	18	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153340	0.78114	.	.	ENSG00000141627	ENST00000269445	.	.	.	5.52	3.48	0.39840	.	0.222920	0.47455	D	0.000226	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-2.8555	9.28	0.37722	0.0:0.1471:0.6822:0.1707	.	.	.	.	X	157	.	ENSP00000269445:Q157X	Q	-	1	0	DYM	45143554	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.195000	0.42677	1.286000	0.44565	0.650000	0.86243	CAG	DYM	-	pfam_Dymeclin	ENSG00000141627		0.348	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	-	0	26	0	G	NM_017653		46889556	-1	tier1	-	no_errors	ENST00000269445	ensembl	human	known	74_37	nonsense	16.00	21	4	SNP	0.999	A	A	46889556	G	A	46889556	4	1	79	1	0	0	0	0	0	1	0	0	4854	1328	46	3	1588	3	DYM	18	46889556	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2328610	46889556	31187692	289	20945											
WDR7	23335	genome.wustl.edu	37	chr18	54426150	54426150	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggggttcccctccaacTtccagtaatattgtgcaagg	10	10	10	11	0	0	0	0	0	0	0	3	0	3	0	4	3	2	4	4	3	5	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:54426150T>C	ENST00000254442.3	+	16	3025	c.2814T>C	c.(2812-2814)acT>acC	p.T938T	WDR7_ENST00000357574.3_Silent_p.T938T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	938					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCCCTCCAACTTCCAGTAATA	0.368																																																	0													67	71	69					18																	54426150		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"WD repeat domain containing"	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2814T>C	18.37:g.54426150T>C			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T938	ENST00000254442.3	37	c.2814	CCDS11962.1	18																																																																																			WDR7	-	NULL	ENSG00000091157		0.368	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0	110	0	T			54426150	1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	silent	53.73	31	36	SNP	0.997	C	C	54426150	T	C	54426150	2	2	79	1	0	0	0	0	0	0	0	1	17369	1596	56	4		4	WDR7	18	54426150	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	7536594	54426150	23651098	290	20946											
ZNF532	55205	genome.wustl.edu	37	chr18	56585942	56585942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagagtttgatgacgaCgagaagattgaggtggatga	13	9	16	3	2	0	8	0	5	0	3	0	11	0	9	0	2	0	2	0	2	2	2	rs372741032		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:56585942C>T	ENST00000336078.4	+	4	1199	c.423C>T	c.(421-423)gaC>gaT	p.D141D	ZNF532_ENST00000591230.1_Silent_p.D141D|ZNF532_ENST00000589288.1_Silent_p.D141D|ZNF532_ENST00000591083.1_Silent_p.D141D|ZNF532_ENST00000591808.1_Silent_p.D141D	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTGATGACGACGAGAAGATTG	0.532																																																	0								C		0,4406		0,0,2203	121	109	113		423	-9.6	0	18		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF532	NM_018181.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/1302	56585942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"Zinc fingers, C2H2-type"	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.423C>T	18.37:g.56585942C>T			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D141	ENST00000336078.4	37	c.423	CCDS11969.1	18																																																																																			ZNF532	-	NULL	ENSG00000074657		0.532	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0	41	0	C	NM_018181		56585942	1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.871	T	T	56585942	C	T	56585942	2	4	79	1	0	0	0	0	0	0	0	1	18020	535	19	1		1	ZNF532	18	56585942	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	2159792	56585942	21491306	291	20947											
SERPINB13	5275	genome.wustl.edu	37	chr18	61259619	61259619	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtacatcaacaattccaaaAgtttttgactgaaataagca	18	11	5	7	0	1	2	1	2	0	0	2	2	2	2	1	0	3	3	1	0	7	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:61259619A>C	ENST00000344731.5	+	4	365	c.263A>C	c.(262-264)aAg>aCg	p.K88T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.K88T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	88					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAATTCCAAAAGTTTTTGACT	0.353																																																	0													106	98	101					18																	61259619		2203	4300	6503	SO:0001583	missense	0			AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"Serine (or cysteine) peptidase inhibitors"	8944	protein-coding gene	gene with protein product		604445	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.263A>C	18.37:g.61259619A>C	ENSP00000341584:p.Lys88Thr		A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K88T	ENST00000344731.5	37	c.263	CCDS11985.1	18	.	.	.	.	.	.	.	.	.	.	A	9.214	1.031601	0.19590	.	.	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000344731	T;D;D	0.84944	-0.9;-1.92;-1.92	4.78	-2.11	0.07187	Serpin domain (3);	1.054840	0.07377	N	0.886837	T	0.76905	0.4053	L	0.43554	1.36	0.09310	N	1	B;B	0.27068	0.167;0.01	B;B	0.33690	0.168;0.018	T	0.60414	-0.7268	10	0.22706	T	0.39	.	3.07	0.06227	0.3997:0.3765:0.1134:0.1104	.	97;88	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	T	118;88;88	ENSP00000388300:K118T;ENSP00000269489:K88T;ENSP00000341584:K88T	ENSP00000269489:K88T	K	+	2	0	SERPINB13	59410599	0.000000	0.05858	0.015000	0.15790	0.963000	0.63663	-2.128000	0.01314	-0.319000	0.08652	0.528000	0.53228	AAG	SERPINB13	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197641		0.353	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB13	HGNC	protein_coding	OTTHUMT00000133798.1	-	0	36	0	A	NM_012397		61259619	1	tier1	-	no_errors	ENST00000344731	ensembl	human	known	74_37	missense	63.16	7	12	SNP	0.005	C	C	61259619	A	C	61259619	3	2	79	1	0	0	0	0	1	0	0	0	14145	72	3	4	273	4	SERPINB13	18	61259619	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	4673677	61259619	16817629	292	20948											
ZNF236	7776	genome.wustl.edu	37	chr18	74625774	74625774	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcggtcgcacaccggggAaaagccctacaagtgcaagc	11	5	13	12	3	0	0	0	0	0	0	1	1	0	1	2	3	5	2	2	3	5	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr18:74625774A>G	ENST00000253159.8	+	18	3173	c.2975A>G	c.(2974-2976)gAa>gGa	p.E992G	ZNF236_ENST00000320610.9_Missense_Mutation_p.E994G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	992					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CACACCGGGGAAAAGCCCTAC	0.517																																																	0													96	102	100					18																	74625774		1974	4171	6145	SO:0001583	missense	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2975A>G	18.37:g.74625774A>G	ENSP00000253159:p.Glu992Gly		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E992G	ENST00000253159.8	37	c.2975	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260639	0.80246	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.27557	1.66;1.66	4.98	4.98	0.66077	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66324	-0.5952	10	0.87932	D	0	.	14.6983	0.69136	1.0:0.0:0.0:0.0	.	992	Q9UL36	ZN236_HUMAN	G	992	ENSP00000253159:E992G;ENSP00000444524:E992G	ENSP00000253159:E992G	E	+	2	0	ZNF236	72754762	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	8.999000	0.93557	1.880000	0.54463	0.379000	0.24179	GAA	ZNF236	-	pfscan_Znf_C2H2	ENSG00000130856		0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	-	0	72	0	A			74625774	1	tier1	-	no_errors	ENST00000253159	ensembl	human	known	74_37	missense	60.87	9	14	SNP	1.000	G	G	74625774	A	G	74625774	3	3	79	1	0	0	0	0	1	0	0	0	17837	246	9	4	3045	4	ZNF236	18	74625774	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	13366155	74625774	3451474	293	20949											
PTBP1	5725	genome.wustl.edu	37	chr19	804119	804119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatccacatccggaagctcCccatcgacgtcacggagggg	9	6	12	14	4	1	1	1	1	0	0	5	4	4	3	4	4	1	1	4	4	1	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:804119C>T	ENST00000349038.4	+	4	272	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	PTBP1_ENST00000394601.4_Missense_Mutation_p.P67S|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.P67S	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	67	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAAGCTCCCCATCGACGT	0.572																																																	0													74	68	70					19																	804119		2203	4300	6503	SO:0001583	missense	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"RNA binding motif (RRM) containing"	9583	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein I"	600693	"polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.199C>T	19.37:g.804119C>T	ENSP00000014112:p.Pro67Ser		Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.P67S	ENST00000349038.4	37	c.199	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546049	0.45383	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.55413	0.52;0.52;0.82	4.41	3.37	0.38596	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.057858	0.64402	D	0.000001	T	0.73434	0.3586	M	0.87038	2.855	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.996	D;D;D	0.76575	0.963;0.969;0.988	T	0.77587	-0.2532	10	0.87932	D	0	-36.3814	11.6448	0.51255	0.0:0.9128:0.0:0.0872	.	67;67;67	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	S	67	ENSP00000349428:P67S;ENSP00000408096:P67S;ENSP00000014112:P67S	ENSP00000014112:P67S	P	+	1	0	PTBP1	755119	1.000000	0.71417	0.082000	0.20525	0.030000	0.12068	7.773000	0.85462	0.983000	0.38602	-0.136000	0.14681	CCC	PTBP1	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000011304		0.572	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	-	0	64	0	C			804119	1	tier1	-	no_errors	ENST00000356948	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.996	T	T	804119	C	T	804119	3	4	79	1	0	0	0	0	1	0	0	0	12767	623	22	3	213	3	PTBP1	19	804119	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09		804119	58324864	294	20950											
APC2	10297	genome.wustl.edu	37	chr19	1466955	1466955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgccaccgctggcgcccGcgccacagggtccccccgag	6	2	13	20	6	0	1	0	0	0	1	1	2	1	1	7	2	0	1	7	2	0	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:1466955G>A	ENST00000535453.1	+	14	5368	c.3655G>A	c.(3655-3657)Gcg>Acg	p.A1219T	APC2_ENST00000238483.4_Missense_Mutation_p.A945T|APC2_ENST00000233607.2_Missense_Mutation_p.A1219T|C19orf25_ENST00000588427.1_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGCGCCCGCGCCACAGGG	0.721																																																	0													9	11	10					19																	1466955		2160	4258	6418	SO:0001583	missense	0				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"Armadillo repeat containing"	24036	protein-coding gene	gene with protein product	"adenomatous polyposis coli like"	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.3655G>A	19.37:g.1466955G>A	ENSP00000442954:p.Ala1219Thr		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo	p.A1219T	ENST00000535453.1	37	c.3655	CCDS12068.1	19	.	.	.	.	.	.	.	.	.	.	G	1.320	-0.599632	0.03744	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92348	-3.02;-2.67;-3.02	4.55	3.49	0.39957	.	0.488453	0.21913	N	0.067264	T	0.80221	0.4583	N	0.17474	0.49	0.80722	D	1	P;P	0.46327	0.876;0.804	B;B	0.28709	0.093;0.043	T	0.77789	-0.2456	10	0.19147	T	0.46	-5.8176	13.4937	0.61411	0.0:0.1588:0.8412:0.0	.	1218;1219	O95996-3;O95996	.;APC2_HUMAN	T	1219;945;1219	ENSP00000233607:A1219T;ENSP00000238483:A945T;ENSP00000442954:A1219T	ENSP00000233607:A1219T	A	+	1	0	APC2	1417955	0.009000	0.17119	0.003000	0.11579	0.004000	0.04260	1.728000	0.38105	1.001000	0.39076	0.511000	0.50034	GCG	APC2	-	NULL	ENSG00000115266		0.721	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	APC2	HGNC	protein_coding	OTTHUMT00000449539.2	-	0	23	0	G	NM_005883		1466955	1	tier1	-	no_errors	ENST00000233607	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.164	A	A	1466955	G	A	1466955	3	1	79	1	0	0	0	0	1	0	0	0	764	1087	38	1	3709	1	APC2	19	1466955	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	662836	1466955	57662028	295	20951											
BTBD2	55643	genome.wustl.edu	37	chr19	1990135	1990135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctcggaccagcggacaaCggcattgaacagccgcacct	10	4	12	15	4	0	1	0	1	0	0	1	3	0	3	4	4	4	2	4	4	2	1	rs36020359		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:1990135C>T	ENST00000255608.4	-	5	872	c.856G>A	c.(856-858)Gtt>Att	p.V286I	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA|BTBD2_ENST00000590646.1_5'Flank	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	286						cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGGACAACGGCATTGAAC	0.652																																																	0								C	ILE/VAL	0,4404		0,0,2202	37	31	33		856	4.3	0	19	dbSNP_126	33	1,8599	1.2+/-3.3	0,1,4299	no	missense	BTBD2	NM_017797.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	286/526	1990135	1,13003	2202	4300	6502	SO:0001583	missense	0			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"BTB/POZ domain containing"	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.856G>A	19.37:g.1990135C>T	ENSP00000255608:p.Val286Ile		O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.V286I	ENST00000255608.4	37	c.856	CCDS12078.1	19	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140577	0.56936	0.0	1.16E-4	ENSG00000133243	ENST00000255608	T	0.71579	-0.58	4.34	4.34	0.51931	BTB/Kelch-associated (2);	0.061145	0.64402	D	0.000004	T	0.66915	0.2838	L	0.58354	1.805	0.52501	D	0.999956	P	0.35551	0.509	B	0.33568	0.166	T	0.70274	-0.4917	10	0.44086	T	0.13	-21.947	16.0152	0.80434	0.0:1.0:0.0:0.0	rs36020359	286	Q9BX70	BTBD2_HUMAN	I	286	ENSP00000255608:V286I	ENSP00000255608:V286I	V	-	1	0	BTBD2	1941135	1.000000	0.71417	0.036000	0.18154	0.718000	0.41266	7.495000	0.81514	2.257000	0.74773	0.549000	0.68633	GTT	BTBD2	-	pfam_BACK,smart_BACK	ENSG00000133243		0.652	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD2	HGNC	protein_coding	OTTHUMT00000449300.2	-	0	124	0	C			1990135	-1	tier1	rs36020359	no_errors	ENST00000255608	ensembl	human	known	74_37	missense	42.22	52	38	SNP	0.967	T	T	1990135	C	T	1990135	3	4	79	1	0	0	0	0	1	0	0	0	1547	536	19	1	741	1	BTBD2	19	1990135	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	523180	1990135	57138848	296	20952											
GNA15	2769	genome.wustl.edu	37	chr19	3151744	3151744	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatcaccgaggagggctaCgtccccacagctcaggacgt	9	5	12	15	4	2	0	2	0	0	0	3	3	3	2	3	3	2	3	3	3	1	1	rs372177672		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:3151744C>T	ENST00000262958.3	+	4	783	c.525C>T	c.(523-525)taC>taT	p.Y175Y	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	175					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGGAGGGCTACGTCCCCACAG	0.642																																																	0										0,4406		0,0,2203	122	104	110		525	1.2	0.1	19		110	2,8598	818.5+/-406.9	0,2,4298	no	coding-synonymous	GNA15	NM_002068.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		175/375	3151744	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.525C>T	19.37:g.3151744C>T			E9KL40|E9KL47|O75247|Q53XK2	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.Y175	ENST00000262958.3	37	c.525	CCDS12104.1	19																																																																																			GNA15	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000060558		0.642	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2		0	46	0	C	NM_002068		3151744	1			no_errors	ENST00000262958	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.938	T	T	3151744	C	T	3151744	2	4	79	1	0	0	0	0	0	0	0	1	6529	547	19	1		1	GNA15	19	3151744	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	1161609	3151744	55977239	297	20953											
TBXA2R	6915	genome.wustl.edu	37	chr19	3600441	3600441	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggccgcagaggaaggtGaggaaggaggagcgcgtgtg	11	3	21	6	4	0	2	0	1	0	1	0	7	0	6	1	6	1	1	1	6	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:3600441G>T	ENST00000375190.4	-	2	585	c.192C>A	c.(190-192)ctC>ctA	p.L64L	TBXA2R_ENST00000589966.1_Silent_p.L64L|TBXA2R_ENST00000411851.3_Silent_p.L64L|TBXA2R_ENST00000587717.1_5'Flank	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	64					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGAGGAAGGTGAGGAAGGAGG	0.711																																																	0													40	58	52					19																	3600441		2171	4242	6413	SO:0001819	synonymous_variant	0				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"GPCR / Class A : Prostanoid receptors"	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.192C>A	19.37:g.3600441G>T			O75228|Q6DK52|Q9UCY1|Q9UCY2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.L64	ENST00000375190.4	37	c.192	CCDS42467.1	19																																																																																			TBXA2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt	ENSG00000006638		0.711	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBXA2R	HGNC	protein_coding	OTTHUMT00000453081.2	-	0	152	0	G			3600441	-1	tier1	-	no_errors	ENST00000411851	ensembl	human	known	74_37	silent	25.00	104	35	SNP	0.999	T	T	3600441	G	T	3600441	2	4	79	1	0	0	0	0	0	0	0	1	15710	1277	45	3		3	TBXA2R	19	3600441	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	448697	3600441	55528542	298	20954											
TNFSF14	8740	genome.wustl.edu	37	chr19	6665098	6665098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggtggcccgtcCgcagggtgactgctggctga	4	8	18	11	2	0	2	0	2	0	0	1	3	1	3	2	5	3	5	2	5	0	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:6665098C>T	ENST00000599359.1	-	5	943	c.562G>A	c.(562-564)Gga>Aga	p.G188R	TNFSF14_ENST00000326176.9_Missense_Mutation_p.G152R|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G152R			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	188					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.G188R(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GTGGCCCGTCCGCAGGGTGAC	0.682																																																	1	Substitution - Missense(1)	ovary(1)											72	62	66					19																	6665098		2203	4300	6503	SO:0001583	missense	0			AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.562G>A	19.37:g.6665098C>T	ENSP00000469049:p.Gly188Arg		A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF	p.G188R	ENST00000599359.1	37	c.562	CCDS12171.1	19	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283525	0.05642	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	D	0.94330	-3.4	4.67	1.32	0.21799	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.543316	0.18528	N	0.138579	D	0.83783	0.5329	L	0.35854	1.095	0.09310	N	1	P;B	0.38788	0.647;0.288	B;B	0.28139	0.086;0.016	T	0.72997	-0.4121	10	0.21014	T	0.42	-3.8979	5.4069	0.16326	0.139:0.6153:0.0:0.2458	.	188;152	O43557;O43557-2	TNF14_HUMAN;.	R	188;152	ENSP00000326940:G152R	ENSP00000245912:G188R	G	-	1	0	TNFSF14	6616098	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.525000	0.06214	0.417000	0.25871	-1.036000	0.02392	GGA	TNFSF14	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000125735		0.682	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF14	HGNC	protein_coding	OTTHUMT00000457863.1	-	0	29	0	C			6665098	-1	tier1	-	no_errors	ENST00000599359	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.001	T	T	6665098	C	T	6665098	3	4	79	1	0	0	0	0	1	0	0	0	16354	661	23	1	164	1	TNFSF14	19	6665098	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	3064657	6665098	52463885	299	20955											
EMR1	2015	genome.wustl.edu	37	chr19	6906515	6906515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaatgccaagagggaaccGcagtgaaacctgcatatgca	15	5	11	10	1	0	2	0	1	0	1	0	3	0	3	3	1	6	4	3	1	5	1	rs149695793	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:6906515G>T	ENST00000312053.4	+	9	1058	c.1021G>T	c.(1021-1023)Gca>Tca	p.A341S	EMR1_ENST00000381404.4_Missense_Mutation_p.A289S|EMR1_ENST00000381407.5_Missense_Mutation_p.A200S|EMR1_ENST00000250572.8_Missense_Mutation_p.A341S|EMR1_ENST00000450315.3_Missense_Mutation_p.A164S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	341	Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AGAGGGAACCGCAGTGAAACC	0.388																																																	0													119	114	116					19																	6906515		2203	4300	6503	SO:0001583	missense	0			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"-", "GPCR / Class B : Orphans"	3336	protein-coding gene	gene with protein product		600493	"egf-like module containing, mucin-like, hormone receptor-like sequence 1"	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1021G>T	19.37:g.6906515G>T	ENSP00000311545:p.Ala341Ser		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.A341S	ENST00000312053.4	37	c.1021	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	g	1.169	-0.641476	0.03531	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	T;T;T;T;T	0.77620	-1.07;-1.08;-1.11;0.08;0.4	2.86	-0.585	0.11698	.	.	.	.	.	T	0.68174	0.2972	L	0.60455	1.87	0.09310	N	1	B;B;B;B;B	0.26445	0.149;0.019;0.027;0.05;0.016	B;B;B;B;B	0.30716	0.119;0.015;0.017;0.017;0.013	T	0.52200	-0.8607	9	0.12103	T	0.63	.	5.9931	0.19478	0.1324:0.1945:0.673:0.0	.	164;200;341;289;341	E7EPX9;B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;.;EMR1_HUMAN	S	341;341;289;341;200;164	ENSP00000311545:A341S;ENSP00000370811:A289S;ENSP00000250572:A341S;ENSP00000370814:A200S;ENSP00000405974:A164S	ENSP00000250572:A341S	A	+	1	0	EMR1	6857515	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.466000	0.06672	-0.032000	0.13758	-1.057000	0.02308	GCA	EMR1	-	NULL	ENSG00000174837		0.388	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	-	0	137	0	G			6906515	1	tier1	-	no_errors	ENST00000312053	ensembl	human	known	74_37	missense	31.87	62	29	SNP	0.000	T	T	6906515	G	T	6906515	3	4	79	1	0	0	0	0	1	0	0	0	5120	1087	38	2	1055	2	EMR1	19	6906515	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	241417	6906515	52222468	300	20956											
ACTL9	284382	genome.wustl.edu	37	chr19	8808052	8808052	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagcacgttttgggccaAgtccgcgcgcatctccagtg	8	8	13	12	4	1	1	0	0	1	1	3	2	2	1	3	1	1	3	3	1	2	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:8808052A>C	ENST00000324436.3	-	1	1120	c.1000T>G	c.(1000-1002)Ttg>Gtg	p.L334V		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	334						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTTTGGGCCAAGTCCGCGCGC	0.662																																																	0													36	37	37					19																	8808052		2202	4296	6498	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1000T>G	19.37:g.8808052A>C	ENSP00000316674:p.Leu334Val		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L334V	ENST00000324436.3	37	c.1000	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	a	3.633	-0.075105	0.07184	.	.	ENSG00000181786	ENST00000324436	D	0.97941	-4.62	4.45	-0.242	0.13039	.	1.060040	0.07531	N	0.912254	D	0.95166	0.8433	M	0.62016	1.91	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	D	0.87047	0.2144	10	0.87932	D	0	.	1.545	0.02563	0.4169:0.29:0.1271:0.166	.	334	Q8TC94	ACTL9_HUMAN	V	334	ENSP00000316674:L334V	ENSP00000316674:L334V	L	-	1	2	ACTL9	8669052	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.801000	0.04550	-0.017000	0.14103	0.255000	0.18592	TTG	ACTL9	-	pfam_Actin-related,smart_Actin-related	ENSG00000181786		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	-	0	82	0	A	NM_178525		8808052	-1	tier1	-	no_errors	ENST00000324436	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.012	C	C	8808052	A	C	8808052	3	2	79	1	0	0	0	0	1	0	0	0	203	69	3	4	254	4	ACTL9	19	8808052	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1901537	8808052	50320931	301	20957											
ZNF560	147741	genome.wustl.edu	37	chr19	9579815	9579815	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaatgtttttaaacaaaaaTtatcttgccaaagggctggc	14	14	7	6	0	1	0	0	0	1	0	1	0	1	0	1	2	2	2	1	2	7	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:9579815T>G	ENST00000301480.4	-	9	791	c.578A>C	c.(577-579)aAt>aCt	p.N193T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TAAACAAAAATTATCTTGCCA	0.313																																																	0													30	31	30					19																	9579815		2202	4297	6499	SO:0001583	missense	0			AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"Zinc fingers, C2H2-type", "-"	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.578A>C	19.37:g.9579815T>G	ENSP00000301480:p.Asn193Thr		Q495S9|Q495T1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N193T	ENST00000301480.4	37	c.578	CCDS12214.1	19	.	.	.	.	.	.	.	.	.	.	T	1.423	-0.572337	0.03882	.	.	ENSG00000198028	ENST00000301480	T	0.05199	3.48	1.99	0.931	0.19460	.	.	.	.	.	T	0.03695	0.0105	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.44483	-0.9325	9	0.32370	T	0.25	.	2.61	0.04888	0.463:0.2523:0.0:0.2846	.	193	Q96MR9	ZN560_HUMAN	T	193	ENSP00000301480:N193T	ENSP00000301480:N193T	N	-	2	0	ZNF560	9440815	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.181000	0.09740	0.195000	0.20347	-0.542000	0.04241	AAT	ZNF560	-	NULL	ENSG00000198028		0.313	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF560	HGNC	protein_coding	OTTHUMT00000449901.1	-	0	48	0	T	NM_152476		9579815	-1	tier1	-	no_errors	ENST00000301480	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.018	G	G	9579815	T	G	9579815	3	3	79	1	0	0	0	0	1	0	0	0	18039	1493	52	4	1802	4	ZNF560	19	9579815	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	771763	9579815	49549168	302	20958											
ZNF257	113835	genome.wustl.edu	37	chr19	22271232	22271232	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgactcatactggagagaAaccctacaaatgtgaagagt	16	8	10	7	0	1	4	1	2	0	2	1	7	1	5	1	1	3	0	1	1	5	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:22271232A>C	ENST00000594947.1	+	4	824	c.680A>C	c.(679-681)aAa>aCa	p.K227T		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTGGAGAGAAACCCTACAAA	0.388																																																	0													38	42	40					19																	22271232		2182	4282	6464	SO:0001583	missense	0			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"Zinc fingers, C2H2-type", "-"	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.680A>C	19.37:g.22271232A>C	ENSP00000470209:p.Lys227Thr		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K227T	ENST00000594947.1	37	c.680	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518000	0.64634	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67674	0.2918	M	0.83012	2.62	0.33031	D	0.530126	D	0.69078	0.997	D	0.67382	0.951	T	0.71586	-0.4548	8	0.87932	D	0	.	5.9831	0.19419	1.0:0.0:0.0:0.0	.	227	Q9Y2Q1	ZN257_HUMAN	T	227;199	.	ENSP00000380312:K199T	K	+	2	0	ZNF257	22063072	0.002000	0.14202	0.317000	0.25265	0.871000	0.50021	0.530000	0.23036	0.436000	0.26393	0.260000	0.18958	AAA	ZNF257	-	pfscan_Znf_C2H2	ENSG00000197134		0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	-	0	71	0	A			22271232	1	tier1	-	no_errors	ENST00000594947	ensembl	human	known	74_37	missense	34.25	48	25	SNP	1.000	C	C	22271232	A	C	22271232	3	2	79	1	0	0	0	0	1	0	0	0	17848	14	1	4	694	4	ZNF257	19	22271232	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	12691417	22271232	36857751	303	20959											
ZNF676	163223	genome.wustl.edu	37	chr19	22363724	22363724	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtgtattaagggttgaGacgctactaaatcctttgcc	10	15	9	7	1	0	1	0	1	0	1	1	2	1	1	2	1	2	3	2	1	6	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:22363724G>T	ENST00000397121.2	-	3	1112	c.795C>A	c.(793-795)gtC>gtA	p.V265V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGGTTGAGACGCTACTAA	0.393																																																	0													92	98	96					19																	22363724		2158	4272	6430	SO:0001819	synonymous_variant	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.795C>A	19.37:g.22363724G>T			A8MVX5	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V265	ENST00000397121.2	37	c.795	CCDS42539.1	19																																																																																			ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	88	0	G	NM_001001411		22363724	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	37.10	39	23	SNP	0.003	T	T	22363724	G	T	22363724	2	4	79	1	0	0	0	0	0	0	0	1	18131	929	33	3		3	ZNF676	19	22363724	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	92492	22363724	36765259	304	20960											
ZNF681	148213	genome.wustl.edu	37	chr19	23927796	23927796	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaattattttatgttgagTtaggtttgaaaatatgcaaa	16	16	7	2	0	0	2	0	2	0	0	0	2	0	2	0	1	1	4	0	1	8	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:23927796T>G	ENST00000402377.3	-	4	697	c.556A>C	c.(556-558)Act>Cct	p.T186P	ZNF681_ENST00000395385.3_Missense_Mutation_p.T117P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	186					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTATGTTGAGTTAGGTTTGAA	0.259																																																	0													19	21	20					19																	23927796		2191	4281	6472	SO:0001583	missense	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.556A>C	19.37:g.23927796T>G	ENSP00000384000:p.Thr186Pro		B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T186P	ENST00000402377.3	37	c.556	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	10.74	1.436387	0.25813	.	.	ENSG00000196172	ENST00000402377;ENST00000395385;ENST00000528059;ENST00000531570	T;T;T;T	0.29655	2.38;2.38;1.56;1.56	1.27	1.27	0.21489	.	.	.	.	.	T	0.51210	0.1661	M	0.80508	2.5	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.28554	-1.0040	9	0.66056	D	0.02	.	6.2392	0.20780	0.0:0.0:0.0:1.0	.	186	Q96N22	ZN681_HUMAN	P	186;117;117;117	ENSP00000384000:T186P;ENSP00000378783:T117P;ENSP00000433806:T117P;ENSP00000435824:T117P	ENSP00000378783:T117P	T	-	1	0	ZNF681	23719636	0.001000	0.12720	0.035000	0.18076	0.068000	0.16541	0.903000	0.28475	0.530000	0.28619	0.260000	0.18958	ACT	ZNF681	-	NULL	ENSG00000196172		0.259	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	52	0	T	NM_138286		23927796	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.003	G	G	23927796	T	G	23927796	3	3	79	1	0	0	0	0	1	0	0	0	18136	1725	60	4	1385	4	ZNF681	19	23927796	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	1564072	23927796	35201187	305	20961											
ZNF536	9745	genome.wustl.edu	37	chr19	30936442	30936442	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccacaagcgggaccgcaAgggcgaggaggatgggctgc	9	4	18	10	3	0	0	0	0	0	0	1	4	1	3	2	5	2	2	2	5	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:30936442A>C	ENST00000355537.3	+	2	2120	c.1973A>C	c.(1972-1974)aAg>aCg	p.K658T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	658					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGGACCGCAAGGGCGAGGAG	0.687																																																	0													53	59	57					19																	30936442		2203	4299	6502	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1973A>C	19.37:g.30936442A>C	ENSP00000347730:p.Lys658Thr		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K658T	ENST00000355537.3	37	c.1973	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262640	0.23051	.	.	ENSG00000198597	ENST00000355537	T	0.08720	3.06	5.42	4.41	0.53225	Zinc finger, C2H2 (1);	0.105219	0.64402	D	0.000006	T	0.05640	0.0148	N	0.14661	0.345	0.36167	D	0.848537	P;P	0.36282	0.546;0.546	B;B	0.34180	0.177;0.177	T	0.39542	-0.9609	10	0.59425	D	0.04	-26.4448	10.9791	0.47483	0.9269:0.0:0.0731:0.0	.	658;658	A7E228;O15090	.;ZN536_HUMAN	T	658	ENSP00000347730:K658T	ENSP00000347730:K658T	K	+	2	0	ZNF536	35628282	1.000000	0.71417	0.995000	0.50966	0.733000	0.41908	5.776000	0.68924	0.887000	0.36136	0.533000	0.62120	AAG	ZNF536	-	pfscan_Znf_C2H2	ENSG00000198597		0.687	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2	-	0	97	0	A	NM_014717		30936442	1	tier1	-	no_errors	ENST00000355537	ensembl	human	known	74_37	missense	18.25	112	25	SNP	1.000	C	C	30936442	A	C	30936442	3	2	79	1	0	0	0	0	1	0	0	0	18022	72	3	4	1975	4	ZNF536	19	30936442	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	7008646	30936442	28192541	306	20962											
GPATCH1	55094	genome.wustl.edu	37	chr19	33585137	33585137	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaagaaggacaaggagttgGtcctcgagtaaagagacggc	15	5	15	6	2	0	2	0	0	0	2	2	7	1	4	1	4	0	2	1	4	5	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:33585137G>T	ENST00000170564.2	+	5	829	c.515G>T	c.(514-516)gGt>gTt	p.G172V		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	172	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CAAGGAGTTGGTCCTCGAGTA	0.383																																					Pancreas(67;88 1713 4567 18227)												0													110	114	112					19																	33585137		2203	4300	6503	SO:0001583	missense	0			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"G patch domain containing"	24658	protein-coding gene	gene with protein product	"evolutionarily conserved G patch domain containing"			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.515G>T	19.37:g.33585137G>T	ENSP00000170564:p.Gly172Val		Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.G172V	ENST00000170564.2	37	c.515	CCDS12428.1	19	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646863	0.87958	.	.	ENSG00000076650	ENST00000170564	D	0.99270	-5.66	5.46	5.46	0.80206	D111/G-patch (3);	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98628	1.0670	10	0.62326	D	0.03	-18.9296	18.3148	0.90217	0.0:0.0:1.0:0.0	.	172	Q9BRR8	GPTC1_HUMAN	V	172	ENSP00000170564:G172V	ENSP00000170564:G172V	G	+	2	0	GPATCH1	38276977	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.536000	0.90627	2.574000	0.86865	0.460000	0.39030	GGT	GPATCH1	-	pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	ENSG00000076650		0.383	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1		0	109	0	G	NM_018025		33585137	1			no_errors	ENST00000170564	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	33585137	G	T	33585137	3	4	79	1	0	0	0	0	1	0	0	0	6616	1261	44	3	533	3	GPATCH1	19	33585137	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2648695	33585137	25543846	307	20963											
KCTD15	79047	genome.wustl.edu	37	chr19	34292163	34292163	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgccagcccagctcaccaAgtccaatgcacctgtgcaca	10	6	7	18	0	1	0	1	0	0	0	2	0	2	0	6	0	5	3	6	0	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:34292163A>C	ENST00000430256.3	+	3	566	c.158A>C	c.(157-159)aAg>aCg	p.K53T	KCTD15_ENST00000589786.1_Missense_Mutation_p.K53T|KCTD15_ENST00000284006.6_Missense_Mutation_p.K53T|KCTD15_ENST00000588881.1_Missense_Mutation_p.K53T			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	53					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CAGCTCACCAAGTCCAATGCA	0.622																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)												0													78	69	72					19																	34292163		2203	4300	6503	SO:0001583	missense	0			AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"potassium channel tetramerisation domain containing 15"			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.158A>C	19.37:g.34292163A>C	ENSP00000394390:p.Lys53Thr		A8K600|Q9BVI6	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.K53T	ENST00000430256.3	37	c.158	CCDS46039.1	19	.	.	.	.	.	.	.	.	.	.	A	25.3	4.623130	0.87460	.	.	ENSG00000153885	ENST00000430256;ENST00000284006;ENST00000422820	T;T	0.76578	0.83;-1.03	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.97	P;P	0.58454	0.835;0.839	T	0.78262	-0.2272	10	0.37606	T	0.19	.	14.7156	0.69265	1.0:0.0:0.0:0.0	.	53;53	Q96SI1;Q96SI1-2	KCD15_HUMAN;.	T	53;53;56	ENSP00000394390:K53T;ENSP00000284006:K53T	ENSP00000284006:K53T	K	+	2	0	KCTD15	38984003	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.904000	0.92590	2.078000	0.62432	0.533000	0.62120	AAG	KCTD15	-	NULL	ENSG00000153885		0.622	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD15	HGNC	protein_coding	OTTHUMT00000451462.2	-	0	68	0	A	NM_024076		34292163	1	tier1	-	no_errors	ENST00000430256	ensembl	human	known	74_37	missense	23.94	54	17	SNP	1.000	C	C	34292163	A	C	34292163	3	2	79	1	0	0	0	0	1	0	0	0	8129	72	3	4	164	4	KCTD15	19	34292163	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	707026	34292163	24836820	308	20964											
LSM14A	26065	genome.wustl.edu	37	chr19	34706131	34706131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagcagctgttgggaGaaggagtcctgtatcaacca	10	9	12	10	0	1	1	1	0	0	1	3	3	3	2	3	2	4	5	3	2	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:34706131G>T	ENST00000433627.5	+	5	716	c.641G>T	c.(640-642)aGa>aTa	p.R214I	LSM14A_ENST00000544216.3_Missense_Mutation_p.R214I|LSM14A_ENST00000540746.2_Missense_Mutation_p.R173I	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	214					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GCTGTTGGGAGAAGGAGTCCT	0.537																																																	0													76	70	72					19																	34706131		2203	4300	6503	SO:0001583	missense	0			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.641G>T	19.37:g.34706131G>T	ENSP00000413964:p.Arg214Ile		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.R214I	ENST00000433627.5	37	c.641	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	g	20.8	4.055369	0.75960	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.32988	1.43;1.43;1.44	5.77	5.77	0.91146	.	0.138323	0.64402	D	0.000003	T	0.57562	0.2062	M	0.73598	2.24	0.80722	D	1	B;D;D	0.61697	0.105;0.99;0.988	B;D;P	0.69142	0.097;0.962;0.775	T	0.50524	-0.8818	10	0.38643	T	0.18	-21.3453	20.3626	0.98863	0.0:0.0:1.0:0.0	.	173;214;214	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	I	214;214;173	ENSP00000446271:R214I;ENSP00000413964:R214I;ENSP00000446451:R173I	ENSP00000314768:R214I	R	+	2	0	LSM14A	39397971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.374000	0.66167	2.885000	0.99019	0.655000	0.94253	AGA	LSM14A	-	NULL	ENSG00000257103		0.537	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3	-	0	67	0	G	NM_015578		34706131	1	tier1	-	no_errors	ENST00000433627	ensembl	human	known	74_37	missense	10.28	96	11	SNP	1.000	T	T	34706131	G	T	34706131	3	4	79	1	0	0	0	0	1	0	0	0	9089	942	33	3	659	3	LSM14A	19	34706131	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	413968	34706131	24422852	309	20965											
ZNF569	148266	genome.wustl.edu	37	chr19	37903852	37903852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcacctgtgtgacttcTcatatgtaaattaagcagtg	10	15	7	9	0	2	1	2	1	2	0	4	1	2	1	1	0	1	2	1	0	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:37903852T>C	ENST00000316950.6	-	6	2265	c.1708A>G	c.(1708-1710)Aga>Gga	p.R570G	ZNF569_ENST00000392150.2_Missense_Mutation_p.R411G|ZNF569_ENST00000392149.2_Missense_Mutation_p.R570G	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGACTTCTCATATGTAAA	0.418																																																	0													100	98	99					19																	37903852		2203	4300	6503	SO:0001583	missense	0			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1708A>G	19.37:g.37903852T>C	ENSP00000325018:p.Arg570Gly		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R570G	ENST00000316950.6	37	c.1708	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858061	0.51376	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.24723	1.84;1.84	4.1	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46619	0.1402	M	0.70595	2.14	0.30560	N	0.764558	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.47509	-0.9112	9	0.56958	D	0.05	.	10.2904	0.43592	0.0:0.0:0.2915:0.7085	.	411;570	Q17RR6;Q5MCW4	.;ZN569_HUMAN	G	570;226;411	ENSP00000325018:R570G;ENSP00000375993:R411G	ENSP00000325018:R570G	R	-	1	2	ZNF569	42595692	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.239000	0.08965	0.184000	0.20083	0.533000	0.62120	AGA	ZNF569	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196437		0.418	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	-	0	58	0	T	NM_152484		37903852	-1	tier1	-	no_errors	ENST00000316950	ensembl	human	known	74_37	missense	48.28	30	28	SNP	0.994	C	C	37903852	T	C	37903852	3	2	79	1	0	0	0	0	1	0	0	0	18048	1559	54	4	356	4	ZNF569	19	37903852	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	3197721	37903852	21225131	310	20966											
ZNF283	284349	genome.wustl.edu	37	chr19	44351115	44351116	+	Missense_Mutation	DNP	CC	CC	AA																															ggagtcaaaaacgtatgagaCcaaaaaaatattttcagaaa																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:44351115_44351116CC>AA	ENST00000324461.7	+	7	659_660	c.362_363CC>AA	c.(361-363)aCC>aAA	p.T121K	ZNF283_ENST00000588797.1_5'UTR	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	121	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				ACGTATGAGACCAAAAAAATAT	0.307																																																	0																																										SO:0001583	missense	0			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		Exception_encountered	19.37:g.44351115_44351116delinsAA	ENSP00000327314:p.Thr121Lys		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation|Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T121N|p.T121	ENST00000324461.7	37	c.362|c.363	CCDS46097.1	19																																																																																			ZNF283	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000167637		0.307	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	-	0	121|124	0	C	NM_181845		44351115|44351116	1	tier1	-	no_errors	ENST00000324461	ensembl	human	known	74_37	missense|silent	42.61|43.48	65|64	49|50	SNP	0.002	A	AA	44351116	CC	AA	44351115	3	1	79	1	0	0	0	0	1	0	0	0	17868	507	18	3	376	3	ZNF283	19	44351115	Missense_Mutation	DNP	CC	TCGA-L5-A8NE-01A-11D-A37C-09	6447263	44351115	14777868	311	20967											
CYTH2	9266	genome.wustl.edu	37	chr19	48978119	48978119	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacgacagcatccgaaatGagcccttcaagattcctgag	12	9	9	11	2	1	3	1	2	0	1	3	5	3	3	3	0	3	2	3	0	3	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:48978119G>T	ENST00000452733.2	+	8	1197	c.721G>T	c.(721-723)Gag>Tag	p.E241*	CYTH2_ENST00000427476.1_Nonsense_Mutation_p.E241*			Q99418	CYH2_HUMAN	cytohesin 2	241					actin cytoskeleton organization (GO:0030036)|endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|inositol 1,4,5 trisphosphate binding (GO:0070679)|lipid binding (GO:0008289)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CATCCGAAATGAGCCCTTCAA	0.612																																																	0													149	124	132					19																	48978119		2203	4300	6503	SO:0001587	stop_gained	0			X99753	CCDS12722.1	19q13.32	2014-05-02	2008-08-14	2008-08-14	ENSG00000105443	ENSG00000105443		"Pleckstrin homology (PH) domain containing"	9502	protein-coding gene	gene with protein product		602488	"pleckstrin homology, Sec7 and coiled/coil domains 2 (cytohesin-2)", "pleckstrin homology, Sec7 and coiled-coil domains 2"	PSCD2L, PSCD2		8706128, 8945478, 20525696	Standard	NM_004228		Approved	CTS18.1, Sec7p-L, ARNO, Sec7p-like, cytohesin-2	uc002pjj.4	Q99418	OTTHUMG00000150245	ENST00000452733.2:c.721G>T	19.37:g.48978119G>T	ENSP00000408236:p.Glu241*		A8K8P0|Q8IXY9|Q92958	Nonsense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.E241*	ENST00000452733.2	37	c.721	CCDS12722.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.624629	0.98396	.	.	ENSG00000105443	ENST00000452733;ENST00000427476	.	.	.	4.35	4.35	0.52113	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.7596	0.69596	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	ENSP00000375753:E241X	E	+	1	0	CYTH2	53669931	1.000000	0.71417	0.963000	0.40424	0.991000	0.79684	9.648000	0.98483	2.421000	0.82119	0.491000	0.48974	GAG	CYTH2	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000105443		0.612	CYTH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYTH2	HGNC	protein_coding	OTTHUMT00000317060.1	-	0	71	0	G	NM_004228		48978119	1	tier1	-	no_errors	ENST00000427476	ensembl	human	known	74_37	nonsense	32.08	36	17	SNP	1.000	T	T	48978119	G	T	48978119	4	4	79	1	0	0	0	0	0	1	0	0	4213	1291	45	3	751	3	CYTH2	19	48978119	Nonsense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	4627004	48978119	10150864	312	20968											
BCL2L12	83596	genome.wustl.edu	37	chr19	50169243	50169243	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgcgcaggcgcgggaaaGttgaactaataaagtttgta	13	9	13	6	3	0	1	0	1	0	0	0	2	0	2	0	2	2	4	0	2	6	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:50169243G>C	ENST00000246785.3	+	1	421	c.163G>C	c.(163-165)Gtt>Ctt	p.V55L	IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.V55L|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000377139.3_5'Flank|BCL2L12_ENST00000246784.3_Missense_Mutation_p.V55L|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|IRF3_ENST00000593922.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	55					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		GCGCGGGAAAGTTGAACTAAT	0.612																																																	0													19	20	20					19																	50169243		2202	4297	6499	SO:0001583	missense	0			AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.163G>C	19.37:g.50169243G>C	ENSP00000246785:p.Val55Leu		Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	NULL	p.V55L	ENST00000246785.3	37	c.163	CCDS12776.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369250	0.82463	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.55052	0.75;0.75;0.54	3.42	3.42	0.39159	.	0.355725	0.16549	U	0.209568	T	0.50120	0.1597	N	0.08118	0	0.26679	N	0.971575	D;D	0.61697	0.99;0.99	D;D	0.72625	0.978;0.978	T	0.41875	-0.9484	10	0.87932	D	0	-0.3092	10.6177	0.45460	0.0:0.0:1.0:0.0	.	55;55	Q3SY13;Q9HB09	.;B2L12_HUMAN	L	55	ENSP00000246785:V55L;ENSP00000393803:V55L;ENSP00000246784:V55L	ENSP00000246784:V55L	V	+	1	0	BCL2L12	54861055	0.998000	0.40836	0.999000	0.59377	0.859000	0.49053	2.669000	0.46825	2.237000	0.73441	0.467000	0.42956	GTT	BCL2L12	-	NULL	ENSG00000126453		0.612	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	HGNC	protein_coding	OTTHUMT00000465770.1	-	0	43	0	G	NM_052842		50169243	1	tier1	-	no_errors	ENST00000246785	ensembl	human	known	74_37	missense	48.08	27	25	SNP	0.999	C	C	50169243	G	C	50169243	3	2	79	1	0	0	0	0	1	0	0	0	1371	1029	36	5	165	5	BCL2L12	19	50169243	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1191124	50169243	8959740	313	20969											
SYT3	84258	genome.wustl.edu	37	chr19	51132599	51132599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgggcggtcagggggctgCtcggccagctccaggaggtt	5	6	19	11	3	1	0	1	0	0	0	3	1	2	1	2	7	3	4	2	7	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:51132599C>T	ENST00000338916.4	-	4	1866	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E	SYT3_ENST00000600079.1_Silent_p.E411E|SYT3_ENST00000593901.1_Silent_p.E411E|SYT3_ENST00000544769.1_Silent_p.E411E	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	411					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CAGGGGGCTGCTCGGCCAGCT	0.672																																																	0													29	30	30					19																	51132599		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1233G>A	19.37:g.51132599C>T			Q8N5Z1|Q8N640	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.E411	ENST00000338916.4	37	c.1233	CCDS12798.1	19																																																																																			SYT3	-	superfamily_C2_dom,smart_C2_dom	ENSG00000213023		0.672	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	-	0	62	0	C	NM_032298		51132599	-1	tier1	-	no_errors	ENST00000338916	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	51132599	C	T	51132599	2	4	79	1	0	0	0	0	0	0	0	1	15522	796	28	3		3	SYT3	19	51132599	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	963356	51132599	7996384	314	20970											
VN1R2	317701	genome.wustl.edu	37	chr19	53762203	53762203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccaggtgatcaccatcaAccctaggaactccaggtggg	10	8	10	13	0	2	1	2	1	0	0	4	2	4	2	4	4	2	0	4	4	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:53762203A>T	ENST00000341702.3	+	1	659	c.575A>T	c.(574-576)aAc>aTc	p.N192I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	192					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATCACCATCAACCCTAGGAAC	0.493																																																	0													44	44	44					19																	53762203		2203	4300	6503	SO:0001583	missense	0			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.575A>T	19.37:g.53762203A>T	ENSP00000351244:p.Asn192Ile		A1L411|Q8TDU4	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.N192I	ENST00000341702.3	37	c.575	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	A	8.948	0.967514	0.18659	.	.	ENSG00000196131	ENST00000341702	T	0.36520	1.25	2.94	-1.02	0.10135	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.27524	0.0676	N	0.11064	0.09	0.09310	N	1	P	0.52316	0.952	P	0.55871	0.786	T	0.14924	-1.0455	9	0.87932	D	0	.	3.7553	0.08582	0.4778:0.1958:0.3264:0.0	.	192	Q8NFZ6	VN1R2_HUMAN	I	192	ENSP00000351244:N192I	ENSP00000351244:N192I	N	+	2	0	VN1R2	58454015	0.020000	0.18652	0.007000	0.13788	0.050000	0.14768	-0.093000	0.11111	-0.124000	0.11724	0.486000	0.48141	AAC	VN1R2	-	pfam_Vmron_rcpt_1,pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	ENSG00000196131		0.493	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	-	0	77	0	A	NM_173856		53762203	1	tier1	-	no_errors	ENST00000341702	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.029	T	T	53762203	A	T	53762203	3	4	79	1	0	0	0	0	1	0	0	0	17228	43	2	5	577	5	VN1R2	19	53762203	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	2629604	53762203	5366780	315	20971											
ZNF667	63934	genome.wustl.edu	37	chr19	56952879	56952879	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacattcatagggtctatcTtcagtatgaattctcttatg	10	17	6	8	0	6	1	3	1	3	0	7	1	6	1	0	1	0	1	0	1	5	7			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:56952879T>G	ENST00000504904.3	-	7	2204	c.1485A>C	c.(1483-1485)gaA>gaC	p.E495D	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.E623D|ZNF667_ENST00000292069.6_Missense_Mutation_p.E495D			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AGGGTCTATCTTCAGTATGAA	0.443																																																	0													85	76	79					19																	56952879		2203	4300	6503	SO:0001583	missense	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1485A>C	19.37:g.56952879T>G	ENSP00000439402:p.Glu495Asp		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E623D	ENST00000504904.3	37	c.1869	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	T	11.39	1.623368	0.28889	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.18502	2.21;2.21;2.21	4.77	1.41	0.22369	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000838	T	0.11067	0.0270	L	0.31926	0.97	0.23238	N	0.998062	B;P	0.34934	0.238;0.476	B;B	0.36378	0.158;0.223	T	0.17561	-1.0365	10	0.87932	D	0	-20.6114	3.2095	0.06677	0.1745:0.2901:0.0:0.5355	.	623;495	E7EPS0;Q5HYK9	.;ZN667_HUMAN	D	623;495;495;277;210	ENSP00000344699:E623D;ENSP00000439402:E495D;ENSP00000292069:E495D	ENSP00000292069:E495D	E	-	3	2	ZNF667	61644691	0.003000	0.15002	0.851000	0.33527	0.027000	0.11550	-0.612000	0.05616	0.319000	0.23209	0.533000	0.62120	GAA	ZNF667	-	pfscan_Znf_C2H2	ENSG00000198046		0.443	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	-	0	59	0	T	NM_022103		56952879	-1	tier1	-	no_errors	ENST00000342634	ensembl	human	known	74_37	missense	38.60	35	22	SNP	0.350	G	G	56952879	T	G	56952879	3	3	79	1	0	0	0	0	1	0	0	0	18122	1606	56	4	351	4	ZNF667	19	56952879	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	3190676	56952879	2176104	316	20972											
PEG3	5178	genome.wustl.edu	37	chr19	57325534	57325534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgcagcctctccatCtggcccttcagcctctccgt	3	11	9	18	1	5	0	1	0	4	0	7	0	5	0	5	2	3	2	5	2	0	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:57325534C>A	ENST00000326441.9	-	10	4639	c.4276G>T	c.(4276-4278)Gat>Tat	p.D1426Y	PEG3_ENST00000598410.1_Missense_Mutation_p.D1302Y|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D1300Y|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1426Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1426	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCTCTCCATCTGGCCCTTCA	0.602																																																	0													44	46	45					19																	57325534		2203	4300	6503	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4276G>T	19.37:g.57325534C>A	ENSP00000326581:p.Asp1426Tyr		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D1426Y	ENST00000326441.9	37	c.4276	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155125	0.57259	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	4.26	3.23	0.37069	.	0.483041	0.17835	N	0.160386	T	0.04497	0.0123	N	0.19112	0.55	.	.	.	D;P;D	0.56968	0.978;0.94;0.976	P;P;P	0.56865	0.808;0.707;0.781	T	0.38415	-0.9662	9	0.48119	T	0.1	-13.0189	7.9546	0.30035	0.0:0.8909:0.0:0.1091	.	1302;1426;1361	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	1426	ENSP00000326581:D1426Y;ENSP00000403051:D1426Y	ENSP00000326581:D1426Y	D	-	1	0	ZIM2	62017346	0.000000	0.05858	0.853000	0.33588	0.990000	0.78478	0.298000	0.19120	1.391000	0.46566	0.655000	0.94253	GAT	PEG3	-	NULL	ENSG00000198300		0.602	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	93	0	C			57325534	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	49.09	28	27	SNP	0.784	A	A	57325534	C	A	57325534	3	1	79	1	0	0	0	0	1	0	0	0	11759	913	32	3	494	3	PEG3	19	57325534	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	372655	57325534	1803449	317	20973											
PEG3	5178	genome.wustl.edu	37	chr19	57326873	57326873	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaggtcagagctatgAgcaaagcactccccacactc	12	7	9	13	0	2	3	2	2	0	1	4	3	3	3	2	1	3	3	2	1	2	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:57326873A>G	ENST00000326441.9	-	10	3300	c.2937T>C	c.(2935-2937)gcT>gcC	p.A979A	PEG3_ENST00000598410.1_Silent_p.A855A|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.A853A|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Silent_p.A979A	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	979					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGAGCTATGAGCAAAGCACT	0.493																																																	0													109	102	104					19																	57326873		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2937T>C	19.37:g.57326873A>G			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A979	ENST00000326441.9	37	c.2937	CCDS12948.1	19																																																																																			PEG3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	88	0	A			57326873	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	34.78	30	16	SNP	0.000	G	G	57326873	A	G	57326873	2	3	79	1	0	0	0	0	0	0	0	1	11759	291	11	4		4	PEG3	19	57326873	Silent	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1339	57326873	1802110	318	20974											
ZNF543	125919	genome.wustl.edu	37	chr19	57840428	57840428	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcattcacactggagagaAgccgtatgaatgcagtgagt	13	9	11	8	1	2	3	2	2	0	1	2	5	2	4	1	1	2	2	1	1	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:57840428A>T	ENST00000321545.4	+	4	1943	c.1598A>T	c.(1597-1599)aAg>aTg	p.K533M		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTGGAGAGAAGCCGTATGAA	0.468																																																	0													82	76	78					19																	57840428		2203	4300	6503	SO:0001583	missense	0			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1598A>T	19.37:g.57840428A>T	ENSP00000322545:p.Lys533Met		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K533M	ENST00000321545.4	37	c.1598	CCDS33130.1	19	.	.	.	.	.	.	.	.	.	.	A	14.52	2.560986	0.45590	.	.	ENSG00000178229	ENST00000321545	T	0.27557	1.66	2.87	1.76	0.24704	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35682	0.0940	M	0.63208	1.945	0.25543	N	0.987161	P	0.35780	0.52	P	0.46076	0.503	T	0.40079	-0.9582	9	0.72032	D	0.01	.	2.9365	0.05816	0.6551:0.0:0.1263:0.2186	.	533	Q08ER8	ZN543_HUMAN	M	533	ENSP00000322545:K533M	ENSP00000322545:K533M	K	+	2	0	ZNF543	62532240	0.000000	0.05858	0.966000	0.40874	0.754000	0.42855	-0.036000	0.12185	0.263000	0.21812	0.379000	0.24179	AAG	ZNF543	-	pfscan_Znf_C2H2	ENSG00000178229		0.468	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	HGNC	protein_coding	OTTHUMT00000465780.1	-	0	67	0	A	XM_064865		57840428	1	tier1	-	no_errors	ENST00000321545	ensembl	human	known	74_37	missense	37.74	33	20	SNP	1.000	T	T	57840428	A	T	57840428	3	4	79	1	0	0	0	0	1	0	0	0	18024	72	3	5	1612	5	ZNF543	19	57840428	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	513555	57840428	1288555	319	20975											
ZNF304	57343	genome.wustl.edu	37	chr19	57868053	57868053	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttattaatcacagaaaaatCcacagtggagaaatatctca	18	10	5	8	0	2	2	2	0	1	2	4	3	3	2	1	1	0	0	1	1	6	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr19:57868053C>A	ENST00000282286.5	+	3	989	c.816C>A	c.(814-816)atC>atA	p.I272I	ZNF304_ENST00000391705.3_Silent_p.I272I|ZNF304_ENST00000443917.2_Silent_p.I319I|ZNF304_ENST00000598744.1_Silent_p.I230I			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGAAAAATCCACAGTGGAG	0.418																																																	0													89	89	89					19																	57868053		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"Zinc fingers, C2H2-type", "-"	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.816C>A	19.37:g.57868053C>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I272	ENST00000282286.5	37	c.816	CCDS12950.1	19																																																																																			ZNF304	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000131845		0.418	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF304	HGNC	protein_coding	OTTHUMT00000465785.1		0	25	0	C			57868053	1			no_errors	ENST00000282286	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.002	A	A	57868053	C	A	57868053	2	1	79	1	0	0	0	0	0	0	0	1	17881	845	30	3		3	ZNF304	19	57868053	Silent	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	27625	57868053	1260930	320	20976											
ESF1	51575	genome.wustl.edu	37	chr20	13740342	13740342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtatctaattcttacctgGaacccatttaatttccattt	11	18	3	9	0	2	0	0	0	2	0	3	1	3	1	3	1	2	1	3	1	6	9			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr20:13740342G>T	ENST00000202816.1	-	9	1932	c.1825C>A	c.(1825-1827)Cca>Aca	p.P609T		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	609	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCTTACCTGGAACCCATTTA	0.338																																																	0													81	79	79					20																	13740342		2203	4295	6498	SO:0001583	missense	0				CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 6"	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.1825C>A	20.37:g.13740342G>T	ENSP00000202816:p.Pro609Thr		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	pfam_NUC153	p.P609T	ENST00000202816.1	37	c.1825	CCDS13117.1	20	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936980	0.73557	.	.	ENSG00000089048	ENST00000202816	T	0.48522	0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67213	-0.5727	10	0.42905	T	0.14	.	19.8087	0.96539	0.0:0.0:1.0:0.0	.	609	Q9H501	ESF1_HUMAN	T	609	ENSP00000202816:P609T	ENSP00000202816:P609T	P	-	1	0	ESF1	13688342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.734000	0.91543	2.757000	0.94681	0.655000	0.94253	CCA	ESF1	-	NULL	ENSG00000089048		0.338	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESF1	HGNC	protein_coding	OTTHUMT00000078049.1	-	0	47	0	G	NM_016649		13740342	-1	tier1	-	no_errors	ENST00000202816	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	13740342	G	T	13740342	3	4	79	1	0	0	0	0	1	0	0	0	5267	1174	41	3	754	3	ESF1	20	13740342	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09		13740342	49285178	321	20977											
TMEM90B	79953	genome.wustl.edu	37	chr20	24524039	24524039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagggcgtgctgcgctcctgGggggacggtgtggccgccga	3	6	21	11	5	0	0	0	0	0	0	1	3	1	1	3	6	2	2	3	6	0	0	rs371527396		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr20:24524039G>C	ENST00000376862.3	+	2	939	c.306G>C	c.(304-306)tgG>tgC	p.W102C		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	102					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)	p.W102*(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TGCGCTCCTGGGGGGACGGTG	0.637																																																	1	Substitution - Nonsense(1)	skin(1)											60	61	60					20																	24524039		2203	4300	6503	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.306G>C	20.37:g.24524039G>C	ENSP00000366058:p.Trp102Cys		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.W102C	ENST00000376862.3	37	c.306	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288912	0.59976	.	.	ENSG00000101463	ENST00000376862	D	0.90900	-2.75	5.85	5.85	0.93711	.	0.130857	0.56097	D	0.000034	D	0.94321	0.8175	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93799	0.7099	10	0.51188	T	0.08	-14.3677	17.645	0.88146	0.0:0.0:1.0:0.0	.	102	Q9H7V2	SYNG1_HUMAN	C	102	ENSP00000366058:W102C	ENSP00000366058:W102C	W	+	3	0	SYNDIG1	24472039	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	9.200000	0.95010	2.766000	0.95052	0.655000	0.94253	TGG	SYNDIG1	-	NULL	ENSG00000101463		0.637	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1		0	49	0	G	NM_024893		24524039	1			no_errors	ENST00000376862	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	C	C	24524039	G	C	24524039	3	2	79	1	0	0	0	0	1	0	0	0	16266	1241	43	5	308	5	TMEM90B	20	24524039	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	10783697	24524039	38501481	322	20978											
E2F1	1869	genome.wustl.edu	37	chr20	32265042	32265042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtgacctcctgggatGgggtcttcccagggctgatc	7	9	14	11	0	1	3	0	2	1	1	4	4	3	4	3	4	0	1	3	4	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr20:32265042G>T	ENST00000343380.5	-	6	1074	c.935C>A	c.(934-936)cCa>cAa	p.P312Q	RP1-63M2.5_ENST00000606866.1_RNA|NECAB3_ENST00000375238.4_5'Flank|NECAB3_ENST00000246190.6_5'Flank	NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	312	Required for interaction with TRIM28.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|DNA damage checkpoint (GO:0000077)|forebrain development (GO:0030900)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|mRNA stabilization (GO:0048255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P312L(1)		NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CTCCTGGGATGGGGTCTTCCC	0.562																																																	1	Substitution - Missense(1)	NS(1)											115	102	107					20																	32265042		2203	4300	6503	SO:0001583	missense	0				CCDS13224.1	20q11	2008-05-14			ENSG00000101412	ENSG00000101412			3113	protein-coding gene	gene with protein product		189971		RBBP3		8964493	Standard	NM_005225		Approved	RBP3	uc002wzu.4	Q01094	OTTHUMG00000032265	ENST00000343380.5:c.935C>A	20.37:g.32265042G>T	ENSP00000345571:p.Pro312Gln		Q13143|Q92768	Missense_Mutation	SNP	pfam_E2F_TDP	p.P312Q	ENST00000343380.5	37	c.935	CCDS13224.1	20	.	.	.	.	.	.	.	.	.	.	G	6.984	0.551539	0.13374	.	.	ENSG00000101412	ENST00000343380	T	0.38722	1.12	4.78	3.84	0.44239	.	1.014100	0.07866	N	0.967039	T	0.37839	0.1018	L	0.51422	1.61	0.09310	N	1	P	0.48230	0.907	B	0.41988	0.372	T	0.08452	-1.0721	10	0.10902	T	0.67	-1.1943	11.101	0.48174	0.0869:0.0:0.9131:0.0	.	312	Q01094	E2F1_HUMAN	Q	312	ENSP00000345571:P312Q	ENSP00000345571:P312Q	P	-	2	0	E2F1	31728703	0.471000	0.25862	0.080000	0.20451	0.097000	0.18754	2.078000	0.41567	1.254000	0.44035	0.407000	0.27541	CCA	E2F1	-	NULL	ENSG00000101412		0.562	E2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F1	HGNC	protein_coding	OTTHUMT00000078731.2	-	0	68	0	G			32265042	-1	tier1	-	no_errors	ENST00000343380	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.081	T	T	32265042	G	T	32265042	3	4	79	1	0	0	0	0	1	0	0	0	4880	1348	47	3	386	3	E2F1	20	32265042	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	7741003	32265042	30760478	323	20979											
ZHX3	23051	genome.wustl.edu	37	chr20	39832332	39832332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaacgtgacctggaagagCggcctggatgagatgctgga	11	6	15	9	2	0	3	0	2	0	2	0	7	0	6	2	4	3	1	2	4	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr20:39832332C>T	ENST00000309060.3	-	4	1640	c.1225G>A	c.(1225-1227)Gct>Act	p.A409T	ZHX3_ENST00000544979.2_Missense_Mutation_p.A409T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A409T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A409T|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000540170.1_Missense_Mutation_p.A409T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A409T|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	409	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CCTGGAAGAGCGGCCTGGATG	0.557																																																	0													89	84	86					20																	39832332		2203	4300	6503	SO:0001583	missense	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1225G>A	20.37:g.39832332C>T	ENSP00000312222:p.Ala409Thr		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A409T	ENST00000309060.3	37	c.1225	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.537|7.537	0.659937|0.659937	0.14645|0.14645	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768|ENST00000421422	T;T;T;T;T|.	0.31769|.	1.48;2.86;2.86;2.64;1.48|.	5.88|5.88	2.85|2.85	0.33270|0.33270	.|.	0.366282|.	0.31566|.	N|.	0.007425|.	T|T	0.21427|0.21427	0.0516|0.0516	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.24651|.	0.006;0.011;0.108|.	B;B;B|.	0.19148|.	0.006;0.004;0.024|.	T|T	0.22208|0.22208	-1.0223|-1.0223	10|5	0.27082|.	T|.	0.32|.	-3.6668|-3.6668	4.5458|4.5458	0.12079|0.12079	0.1422:0.5117:0.0:0.3461|0.1422:0.5117:0.0:0.3461	.|.	409;409;409|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	T|H	409;409;409;409;187;409|117	ENSP00000312222:A409T;ENSP00000362360:A409T;ENSP00000442290:A409T;ENSP00000443783:A409T;ENSP00000415498:A409T|.	ENSP00000312222:A409T|.	A|R	-|-	1|2	0|0	ZHX3|ZHX3	39265746|39265746	0.332000|0.332000	0.24722|0.24722	0.567000|0.567000	0.28434|0.28434	0.622000|0.622000	0.37654|0.37654	0.945000|0.945000	0.29056|0.29056	0.373000|0.373000	0.24621|0.24621	0.655000|0.655000	0.94253|0.94253	GCT|CGC	ZHX3	-	NULL	ENSG00000174306		0.557	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3		0	39	0	C	NM_015035		39832332	-1			no_errors	ENST00000309060	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.012	T	T	39832332	C	T	39832332	3	4	79	1	0	0	0	0	1	0	0	0	17725	768	27	1	1653	1	ZHX3	20	39832332	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	7567290	39832332	23193188	324	20980											
C20orf177	63939	genome.wustl.edu	37	chr20	58519165	58519165	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagcatttccccggaagCaagacgcaaaaggaatccac	17	4	9	11	2	0	2	0	0	0	2	2	4	2	4	3	2	2	3	3	2	6	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr20:58519165C>G	ENST00000358293.3	+	5	582	c.167C>G	c.(166-168)gCa>gGa	p.A56G	FAM217B_ENST00000360816.3_Missense_Mutation_p.A56G|FAM217B_ENST00000469084.1_Intron	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	56																	TCCCCGGAAGCAAGACGCAAA	0.463																																																	0													53	54	53					20																	58519165		2203	4300	6503	SO:0001583	missense	0			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 177"	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.167C>G	20.37:g.58519165C>G	ENSP00000351040:p.Ala56Gly		B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.A56G	ENST00000358293.3	37	c.167	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	C	0.322	-0.961501	0.02249	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.26518	1.73;1.73	5.32	1.21	0.21127	.	0.585904	0.15787	N	0.244653	T	0.03477	0.0100	N	0.00210	-1.845	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36986	-0.9725	10	0.02654	T	1	-4.5356	0.8381	0.01144	0.3298:0.1649:0.3503:0.155	.	56	Q9NTX9	CT177_HUMAN	G	56	ENSP00000351040:A56G;ENSP00000354056:A56G	ENSP00000351040:A56G	A	+	2	0	C20orf177	57952560	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.058000	0.14301	0.244000	0.21351	-0.950000	0.02660	GCA	FAM217B	-	NULL	ENSG00000196227		0.463	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	-	0	40	0	C	NM_022106		58519165	1	tier1	-	no_errors	ENST00000358293	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.000	G	G	58519165	C	G	58519165	3	3	79	1	0	0	0	0	1	0	0	0	2103	710	25	5	169	5	C20orf177	20	58519165	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	18686833	58519165	4506355	325	20981											
MRPL39	54148	genome.wustl.edu	37	chr21	26965201	26965201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttgaagattgtgaactgCtgatacttcatactggaaac	12	12	11	6	0	1	4	1	3	0	1	1	5	1	5	0	2	5	2	0	2	5	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr21:26965201C>T	ENST00000352957.4	-	8	885	c.844G>A	c.(844-846)Gca>Aca	p.A282T	MRPL39_ENST00000307301.7_Missense_Mutation_p.A282T	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	282						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TTGTGAACTGCTGATACTTCA	0.378																																																	0													93	87	89					21																	26965201		2203	4300	6503	SO:0001583	missense	0			AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"Mitochondrial ribosomal proteins / large subunits"	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.844G>A	21.37:g.26965201C>T	ENSP00000284967:p.Ala282Thr		C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_TGS-like	p.A282T	ENST00000352957.4	37	c.844	CCDS13573.1	21	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838633	0.91117	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.52983	0.69;0.69;0.64	5.39	5.39	0.77823	Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.106736	0.64402	D	0.000005	T	0.58807	0.2148	M	0.77486	2.375	0.58432	D	0.999999	P;P	0.37985	0.613;0.55	B;B	0.42495	0.389;0.358	T	0.63269	-0.6675	10	0.62326	D	0.03	-20.6679	18.9269	0.92549	0.0:1.0:0.0:0.0	.	282;282	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	T	282;282;272	ENSP00000284967:A282T;ENSP00000305682:A282T;ENSP00000404426:A272T	ENSP00000305682:A282T	A	-	1	0	MRPL39	25887072	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	5.475000	0.66787	2.799000	0.96334	0.655000	0.94253	GCA	MRPL39	-	superfamily_Thr/Ala-tRNA-synth_IIc_edit	ENSG00000154719		0.378	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL39	HGNC	protein_coding	OTTHUMT00000171194.1	-	0	66	0	C	NM_017446		26965201	-1	tier1	-	no_errors	ENST00000307301	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	26965201	C	T	26965201	3	4	79	1	0	0	0	0	1	0	0	0	9840	797	28	3	277	3	MRPL39	21	26965201	Missense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09		26965201	21164694	326	20982											
CABIN1	23523	genome.wustl.edu	37	chr22	24561508	24561508	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaccgcaggaagtatctgCgagatgctgaccgccaggtc	10	7	13	11	3	1	3	0	2	1	1	2	5	1	4	3	2	2	3	3	2	2	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr22:24561508C>T	ENST00000398319.2	+	31	5306	c.4921C>T	c.(4921-4923)Cga>Tga	p.R1641*	CABIN1_ENST00000263119.5_Nonsense_Mutation_p.R1641*|CABIN1_ENST00000405822.2_Nonsense_Mutation_p.R1562*|CABIN1_ENST00000337989.7_Nonsense_Mutation_p.R66*	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1641					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R1641*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGTATCTGCGAGATGCTGA	0.612																																																	1	Substitution - Nonsense(1)	large_intestine(1)											83	59	67					22																	24561508		2201	4300	6501	SO:0001587	stop_gained	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4921C>T	22.37:g.24561508C>T	ENSP00000381364:p.Arg1641*		G5E9F3|Q6PHY0|Q9Y460	Nonsense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R1641*	ENST00000398319.2	37	c.4921	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	38	7.186191	0.98121	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.5994	0.84807	0.0:1.0:0.0:0.0	.	.	.	.	X	1641;1562;1641;66;66	.	ENSP00000263119:R1641X	R	+	1	2	CABIN1	22891508	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.701000	0.61810	2.240000	0.73641	0.650000	0.86243	CGA	CABIN1	-	NULL	ENSG00000099991		0.612	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2		0	26	0	C	NM_012295		24561508	1			no_errors	ENST00000263119	ensembl	human	known	74_37	nonsense	9.09	20	2	SNP	1.000	T	T	24561508	C	T	24561508	4	4	79	1	0	0	0	0	0	1	0	0	2535	760	27	1	5039	1	CABIN1	22	24561508	Nonsense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09		24561508	26743058	327	20983											
MN1	4330	genome.wustl.edu	37	chr22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-																															gctgctgctgctgctgctgtTgctgctgctgctgctgctgc																								rs34890218|rs45480998|rs45597040	byFrequency	TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"L, O"	1	Substitution - coding silent(1)	prostate(1)								226,138,2110		41,6,138,37,58,957						-0.4	1		dbSNP_126	5	429,825,4222		34,24,337,178,445,1720	no	codingComplex	MN1	NM_002430.2		75,30,475,215,503,2677	A1A1,A1A2,A1R,A2A2,A2R,RR		22.8999,14.713,20.3522				655,963,6332				SO:0001651	inframe_deletion	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"probable tumor suppressor protein MN1"	156100	"meningioma chromosome region"	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1596_1598delGCA	22.37:g.28194943_28194945delTGC	ENSP00000304956:p.Gln550del		A9Z1V9	In_Frame_Del	DEL	NULL	p.Q536in_frame_del	ENST00000302326.4	37	c.1598_1596	CCDS42998.1	22																																																																																			MN1	-	NULL	ENSG00000169184		0.65	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1		0	45	0	TGC	NM_002430		28194936	-1	tier1		no_errors	ENST00000302326	ensembl	human	known	74_37	in_frame_del	10.81	33	4	DEL	1.000:1.000:0.998	-	-	28194936	TGC	-	28194934	7	5	79	1	0	1	0	1	0	0	0	0	9711	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-L5-A8NE-01A-11D-A37C-09	3633426	28194934	23109632	328	20984											
SFI1	9814	genome.wustl.edu	37	chr22	32000874	32000874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttaccagggcagggtgcGaagcatcctccgggaggtgg	8	6	17	10	2	0	0	0	0	0	0	2	3	2	1	3	5	3	2	3	5	2	1	rs567259192		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr22:32000874G>A	ENST00000400288.2	+	20	2102	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	SFI1_ENST00000540643.1_Missense_Mutation_p.R611Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R584Q|SFI1_ENST00000432498.1_Missense_Mutation_p.R635Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R513Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R513Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R584Q	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	666					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GGCAGGGTGCGAAGCATCCTC	0.637													G|||	1	0.000199681	0	0.0014	5008	,	,		18358	0		0	False		,,,				2504	0																0													25	29	28					22																	32000874		1999	4182	6181	SO:0001583	missense	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 139"	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1997G>A	22.37:g.32000874G>A	ENSP00000383145:p.Arg666Gln		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.R666Q	ENST00000400288.2	37	c.1997	CCDS43004.1	22	.	.	.	.	.	.	.	.	.	.	G	1.434	-0.569371	0.03910	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.59	4.51	-4.29	0.03721	.	0.475716	0.21244	N	0.077764	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.34372	0.043;0.451;0.068;0.284;0.014;0.2	B;B;B;B;B;B	0.22880	0.021;0.042;0.007;0.035;0.01;0.034	T	0.42015	-0.9476	10	0.10377	T	0.69	.	10.3947	0.44194	0.7056:0.0:0.2944:0.0	.	611;584;584;635;666;642	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	Q	635;611;584;642;513;513;584;666;249	ENSP00000402679:R635Q;ENSP00000443025:R611Q;ENSP00000416469:R584Q;ENSP00000397148:R513Q;ENSP00000401199:R513Q;ENSP00000383146:R584Q;ENSP00000383145:R666Q;ENSP00000398871:R249Q	ENSP00000383145:R666Q	R	+	2	0	SFI1	30330874	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	-0.108000	0.10857	-0.593000	0.05844	-0.244000	0.11960	CGA	SFI1	-	superfamily_Cyclin-like	ENSG00000198089		0.637	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	-	0	79	0	G	NM_014775		32000874	1	tier1	-	no_errors	ENST00000400288	ensembl	human	known	74_37	missense	68.57	11	24	SNP	0.000	A	A	32000874	G	A	32000874	3	1	79	1	0	0	0	0	1	0	0	0	14201	1058	37	1	2071	1	SFI1	22	32000874	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	3805940	32000874	19303692	329	20985											
NFAM1	150372	genome.wustl.edu	37	chr22	42783038	42783038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggtgagctgccatccTcattctcgatgcaggcatag	7	10	13	11	2	2	1	1	1	1	0	4	2	3	1	2	3	3	3	2	3	1	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr22:42783038T>C	ENST00000329021.5	-	5	747	c.710A>G	c.(709-711)gAg>gGg	p.E237G		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	237	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						GCTGCCATCCTCATTCTCGAT	0.632																																																	0													114	103	106					22																	42783038		2203	4300	6503	SO:0001583	missense	0			BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.710A>G	22.37:g.42783038T>C	ENSP00000333680:p.Glu237Gly		B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Missense_Mutation	SNP	pfscan_Phos_immunorcpt_sig_ITAM	p.E237G	ENST00000329021.5	37	c.710	CCDS14034.1	22	.	.	.	.	.	.	.	.	.	.	T	13.46	2.243693	0.39697	.	.	ENSG00000235568	ENST00000329021	T	0.37411	1.2	3.56	3.56	0.40772	.	0.568763	0.14274	U	0.329982	T	0.51261	0.1664	L	0.56769	1.78	0.09310	N	1	D	0.71674	0.998	D	0.67725	0.953	T	0.31447	-0.9943	10	0.87932	D	0	.	8.7943	0.34870	0.0:0.0:0.0:1.0	.	237	Q8NET5	NFAM1_HUMAN	G	237	ENSP00000333680:E237G	ENSP00000333680:E237G	E	-	2	0	NFAM1	41112982	0.003000	0.15002	0.016000	0.15963	0.026000	0.11368	1.032000	0.30178	1.850000	0.53721	0.459000	0.35465	GAG	NFAM1	-	pfscan_Phos_immunorcpt_sig_ITAM	ENSG00000235568		0.632	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFAM1	HGNC	protein_coding	OTTHUMT00000320541.1	-	0	62	0	T	NM_145912		42783038	-1	tier1	-	no_errors	ENST00000329021	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.018	C	C	42783038	T	C	42783038	3	2	79	1	0	0	0	0	1	0	0	0	10397	1551	54	4	110	4	NFAM1	22	42783038	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	10782164	42783038	8521528	330	20986											
EFCAB6	64800	genome.wustl.edu	37	chr22	43936111	43936111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggacactgctccctctctGggccacggccgagtcaccag	7	6	12	16	2	2	0	1	0	1	0	4	2	3	1	4	3	1	1	4	3	0	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr22:43936111G>T	ENST00000262726.7	-	28	4028	c.3775C>A	c.(3775-3777)Cag>Aag	p.Q1259K	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.Q1107K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCCCTCTCTGGGCCACGGCC	0.607																																																	0													95	78	84					22																	43936111		2203	4300	6503	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3775C>A	22.37:g.43936111G>T	ENSP00000262726:p.Gln1259Lys		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.Q1259K	ENST00000262726.7	37	c.3775	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093054	0.36952	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.14391	2.52;2.51	5.49	5.49	0.81192	EF-hand calcium-binding domain-containing protein 6 (1);	0.436160	0.22874	N	0.054600	T	0.25975	0.0633	M	0.70595	2.14	0.80722	D	1	D	0.53312	0.959	P	0.55508	0.777	T	0.06215	-1.0839	10	0.05351	T	0.99	-26.4634	15.2372	0.73441	0.0:0.0:1.0:0.0	.	1259	Q5THR3	EFCB6_HUMAN	K	1107;1259	ENSP00000379533:Q1107K;ENSP00000262726:Q1259K	ENSP00000262726:Q1259K	Q	-	1	0	EFCAB6	42267444	0.993000	0.37304	0.997000	0.53966	0.500000	0.33767	4.271000	0.58902	2.731000	0.93534	0.650000	0.86243	CAG	EFCAB6	-	pfam_EF_hand_Ca-bd_contain_6	ENSG00000186976		0.607	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	-	0	42	0	G	NM_022785		43936111	-1	tier1	-	no_errors	ENST00000262726	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.999	T	T	43936111	G	T	43936111	3	4	79	1	0	0	0	0	1	0	0	0	4953	1357	47	3	750	3	EFCAB6	22	43936111	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1153073	43936111	7368455	331	20987											
C22orf40	150383	genome.wustl.edu	37	chr22	46643007	46643007	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccacgctgcttacccacCgggcccacacacaccagcct	9	4	7	21	2	0	0	0	0	0	0	0	0	0	0	6	1	4	2	6	1	1	1			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chr22:46643007C>T	ENST00000314567.3	-	3	648	c.225G>A	c.(223-225)ccG>ccA	p.P75P	CDPF1_ENST00000404744.1_Silent_p.P75P|CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_Intron	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	75																	GCTTACCCACCGGGCCCACAC	0.612																																																	0													61	54	56					22																	46643007		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 40"	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.225+1G>A	22.37:g.46643007C>T			A6NCA1|A9IU12|A9IU16|Q3ZCR8	Silent	SNP	pfam_Cys-rich_DPF,prints_Cys-rich_DPF	p.P75	ENST00000314567.3	37	c.225	CCDS33670.1	22																																																																																			CDPF1	-	pfam_Cys-rich_DPF,prints_Cys-rich_DPF	ENSG00000205643		0.612	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	CDPF1	HGNC	protein_coding	OTTHUMT00000075560.4	-	0	38	0	C	NM_207327	Silent	46643007	-1	tier1	-	no_errors	ENST00000381037	ensembl	human	known	74_37	silent	25.49	37	13	SNP	1.000	T	T	46643007	C	T	46643007	5	4	79	1	0	0	0	0	0	0	1	0	2155	666	23	1	154	1	C22orf40	22	46643007	Splice_Site	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	2706896	46643007	4661559	332	20988											
REPS2	9185	genome.wustl.edu	37	chrX	17080642	17080642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaacaacctcgtgactTgaatcggatggaggtaaaag	16	8	10	7	2	1	2	1	2	0	0	3	4	1	4	1	3	2	1	1	3	6	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:17080642T>C	ENST00000357277.3	+	9	1367	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	REPS2_ENST00000380064.4_Missense_Mutation_p.L259S|REPS2_ENST00000303843.7_Missense_Mutation_p.L398S	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	399					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CCTCGTGACTTGAATCGGATG	0.363																																																	0													102	87	92					X																	17080642		2203	4300	6503	SO:0001583	missense	0			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"EF-hand domain containing"	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1196T>C	X.37:g.17080642T>C	ENSP00000349824:p.Leu399Ser		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.L399S	ENST00000357277.3	37	c.1196	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	T	17.37	3.373556	0.61624	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.35048	1.4;1.4;1.33	5.62	3.2	0.36748	.	0.705620	0.12784	N	0.439419	T	0.42698	0.1214	M	0.62723	1.935	0.36296	D	0.856722	D;D;D	0.60575	0.988;0.96;0.988	P;P;P	0.57204	0.676;0.815;0.676	T	0.49476	-0.8936	10	0.08599	T	0.76	0.1173	5.7275	0.18020	0.0:0.0886:0.168:0.7433	.	259;398;399	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	S	399;399;398;259	ENSP00000349824:L399S;ENSP00000306033:L398S;ENSP00000369404:L259S	ENSP00000306033:L398S	L	+	2	0	REPS2	16990563	1.000000	0.71417	0.766000	0.31476	0.967000	0.64934	2.178000	0.42519	0.266000	0.21894	0.441000	0.28932	TTG	REPS2	-	NULL	ENSG00000169891		0.363	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1	-	0	39	0	T	NM_004726		17080642	1	tier1	-	no_errors	ENST00000357277	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.984	C	C	17080642	T	C	17080642	3	2	79	1	0	0	0	0	1	0	0	0	13274	1821	63	4	1230	4	REPS2	23	17080642	Missense_Mutation	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09		17080642	138189918	333	20989											
PHKA2	5256	genome.wustl.edu	37	chrX	18917322	18917322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgcgcactgctggacGcggcctggcccacagaaaag	11	4	14	12	3	0	1	0	0	0	1	0	3	0	3	2	4	2	2	2	4	3	0	rs375184186		TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:18917322G>A	ENST00000379942.4	-	29	3745	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V	PHKA2_ENST00000481718.1_5'Flank	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1027					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTGCTGGACGCGGCCTGGCC	0.557																																																	0								G	VAL/ALA	1,3834		0,1,1631,571	167	127	141		3080	-5	0	X		141	0,6728		0,0,2428,1872	no	missense	PHKA2	NM_000292.2	64	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	benign	1027/1236	18917322	1,10562	2203	4300	6503	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3080C>T	X.37:g.18917322G>A	ENSP00000369274:p.Ala1027Val		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.A1027V	ENST00000379942.4	37	c.3080	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413078	0.25465	2.61E-4	0.0	ENSG00000044446	ENST00000379942	D	0.90504	-2.68	5.33	-5.02	0.02982	.	2.597880	0.00714	N	0.000858	T	0.79458	0.4449	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.68700	-0.5339	10	0.25751	T	0.34	4.9801	13.9667	0.64213	0.4543:0.0:0.5457:0.0	.	1027	P46019	KPB2_HUMAN	V	1027	ENSP00000369274:A1027V	ENSP00000369274:A1027V	A	-	2	0	PHKA2	18827243	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.088000	0.14979	-1.400000	0.02061	-0.322000	0.08575	GCG	PHKA2	-	NULL	ENSG00000044446		0.557	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	-	0	32	0	G	NM_000292		18917322	-1	tier1	-	no_errors	ENST00000379942	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.000	A	A	18917322	G	A	18917322	3	1	79	1	0	0	0	0	1	0	0	0	11883	1087	38	1	647	1	PHKA2	23	18917322	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	1836680	18917322	136353238	334	20990											
FAM47C	442444	genome.wustl.edu	37	chrX	37026951	37026951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaaaccgctggaccctgaGaggaagctggaggacgcagg	11	4	16	10	2	0	2	0	2	0	1	0	7	0	6	2	5	2	3	2	5	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:37026951G>C	ENST00000358047.3	+	1	520	c.468G>C	c.(466-468)gaG>gaC	p.E156D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	156										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGGACCCTGAGAGGAAGCTGG	0.572																																																	0													56	50	52					X																	37026951		2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.468G>C	X.37:g.37026951G>C	ENSP00000367913:p.Glu156Asp		Q6ZU46	Missense_Mutation	SNP	NULL	p.E156D	ENST00000358047.3	37	c.468	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	2.885	-0.230849	0.05983	.	.	ENSG00000198173	ENST00000358047	T	0.19532	2.14	0.502	-0.96	0.10340	.	.	.	.	.	T	0.16257	0.0391	L	0.41573	1.285	0.09310	N	1	B	0.29481	0.245	B	0.39738	0.308	T	0.43130	-0.9410	8	0.08837	T	0.75	.	.	.	.	.	156	Q5HY64	FA47C_HUMAN	D	156	ENSP00000367913:E156D	ENSP00000367913:E156D	E	+	3	2	FAM47C	36936872	0.044000	0.20184	0.068000	0.19968	0.056000	0.15407	0.165000	0.16564	-0.522000	0.06417	0.292000	0.19580	GAG	FAM47C	-	NULL	ENSG00000198173		0.572	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	-	0	91	0	G	NM_001013736		37026951	1	tier1	-	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	74.07	21	60	SNP	0.067	C	C	37026951	G	C	37026951	3	2	79	1	0	0	0	0	1	0	0	0	5593	933	33	5	470	5	FAM47C	23	37026951	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	18109629	37026951	118243609	335	20991											
SRPX	8406	genome.wustl.edu	37	chrX	38031202	38031202	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggtccgctcccctttcAacgtgtatcctggtgaacaa	8	11	9	13	3	1	2	1	2	0	0	4	2	4	2	4	2	2	2	4	2	4	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:38031202A>C	ENST00000378533.3	-	4	564	c.458T>G	c.(457-459)tTg>tGg	p.L153W	SRPX_ENST00000343800.6_Missense_Mutation_p.L140W|SRPX_ENST00000538295.1_Missense_Mutation_p.L153W|SRPX_ENST00000432886.2_Intron|SRPX_ENST00000544439.1_Missense_Mutation_p.L133W|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	153	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTCCCCTTTCAACGTGTATCC	0.532																																																	0													111	92	99					X																	38031202		2202	4300	6502	SO:0001583	missense	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.458T>G	X.37:g.38031202A>C	ENSP00000367794:p.Leu153Trp		A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Missense_Mutation	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L153W	ENST00000378533.3	37	c.458	CCDS14245.1	X	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708739	0.89018	.	.	ENSG00000101955	ENST00000544439;ENST00000538295;ENST00000378533;ENST00000343800	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.86	5.86	0.93980	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;0.999;1.0	D	0.93421	0.6777	10	0.66056	D	0.02	-11.9434	15.1285	0.72500	1.0:0.0:0.0:0.0	.	153;133;153	F5H4D7;G3V1L0;P78539	.;.;SRPX_HUMAN	W	133;153;153;140	ENSP00000440758:L133W;ENSP00000445034:L153W;ENSP00000367794:L153W;ENSP00000339211:L140W	ENSP00000339211:L140W	L	-	2	0	SRPX	37916146	1.000000	0.71417	0.909000	0.35828	0.981000	0.71138	8.917000	0.92751	1.955000	0.56771	0.486000	0.48141	TTG	SRPX	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000101955		0.532	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	-	0	45	0	A	NM_006307		38031202	-1	tier1	-	no_errors	ENST00000378533	ensembl	human	known	74_37	missense	89.66	3	26	SNP	0.997	C	C	38031202	A	C	38031202	3	2	79	1	0	0	0	0	1	0	0	0	15211	131	5	4	964	4	SRPX	23	38031202	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	1004251	38031202	117239358	336	20992											
FAM104B	90736	genome.wustl.edu	37	chrX	55172586	55172586	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaaggtctggttgatatgGgagtaaagaccttggcatgg	10	12	14	5	0	2	2	1	1	1	1	2	3	2	3	1	5	0	3	1	5	4	5			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:55172586G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000425133.2_Silent_p.S94S			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478																																																	1	Substitution - coding silent(1)	endometrium(1)											78	66	70					X																	55172586		2203	4297	6500	SO:0001627	intron_variant	0			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"chromosome X open reading frame 44"	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+27C>T	X.37:g.55172586G>A			A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Silent	SNP	NULL	p.S94	ENST00000358460.4	37	c.282	CCDS35305.2	X																																																																																			FAM104B	-	NULL	ENSG00000182518		0.478	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM104B	HGNC	protein_coding	OTTHUMT00000056851.1		0	42	0	G	NM_138362		55172586	-1			no_errors	ENST00000425133	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.008	A	A	55172586	G	A	55172586	1	1	79	0	1	0	0	0	0	0	0	0	5405	1219	43	3		3	FAM104B	23	55172586	Intron	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	17141384	55172586	100097974	337	20993											
ZMYM3	9203	genome.wustl.edu	37	chrX	70463796	70463796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctcagcagctgagcaGgcgagaatatcctctttgat	10	11	11	9	1	2	4	1	3	1	1	3	5	3	4	1	1	4	4	1	1	2	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:70463796G>T	ENST00000353904.2	-	21	3502	c.3315C>A	c.(3313-3315)gcC>gcA	p.A1105A	ZMYM3_ENST00000314425.5_Silent_p.A1105A|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Silent_p.A1107A|ZMYM3_ENST00000373984.3_Silent_p.A1100A|ZMYM3_ENST00000373998.1_Silent_p.A1093A	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGCTGAGCAGGCGAGAATAT	0.458																																																	0													164	112	130					X																	70463796		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3315C>A	X.37:g.70463796G>T			D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.A1107	ENST00000353904.2	37	c.3321	CCDS14409.1	X																																																																																			ZMYM3	-	NULL	ENSG00000147130		0.458	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0	39	0	G	NM_201599		70463796	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	70463796	G	T	70463796	2	4	79	1	0	0	0	0	0	0	0	1	17749	987	35	3		3	ZMYM3	23	70463796	Silent	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	15291210	70463796	84806764	338	20994											
CYLC1	1538	genome.wustl.edu	37	chrX	83129079	83129079	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaccgaagggagattcaAaaaagggtaaaaaggatgaa	20	5	12	4	1	1	3	1	2	0	1	1	6	1	4	1	3	1	1	1	3	9	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:83129079A>C	ENST00000329312.4	+	4	1400	c.1363A>C	c.(1363-1365)Aaa>Caa	p.K455Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	455					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGGAGATTCAAAAAAGGGTAA	0.333																																																	0													28	24	26					X																	83129079		2201	4296	6497	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1363A>C	X.37:g.83129079A>C	ENSP00000331556:p.Lys455Gln		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.K455Q	ENST00000329312.4	37	c.1363	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	a	8.555	0.876443	0.17395	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.26810	1.71	3.56	2.38	0.29361	.	.	.	.	.	T	0.38612	0.1047	M	0.76574	2.34	0.09310	N	1	D;D	0.63046	0.992;0.992	P;P	0.55824	0.785;0.785	T	0.16070	-1.0415	9	0.49607	T	0.09	-7.382	4.9574	0.14048	0.8579:0.0:0.1421:0.0	.	455;455	P35663;F5H4V5	CYLC1_HUMAN;.	Q	455	ENSP00000331556:K455Q	ENSP00000331556:K455Q	K	+	1	0	CYLC1	83015735	0.577000	0.26708	0.007000	0.13788	0.086000	0.17979	2.306000	0.43673	0.562000	0.29204	0.486000	0.48141	AAA	CYLC1	-	NULL	ENSG00000183035		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	35	0	A	NM_021118		83129079	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	77.27	5	17	SNP	0.054	C	C	83129079	A	C	83129079	3	2	79	1	0	0	0	0	1	0	0	0	4150	15	1	4	1377	4	CYLC1	23	83129079	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	12665283	83129079	72141481	339	20995											
PCDH11X	27328	genome.wustl.edu	37	chrX	91132816	91132816	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcatgctgactgtagtgaAgaaactagatagagaaaaag	18	7	12	4	0	0	5	0	2	0	3	0	6	0	5	0	1	2	3	0	1	7	3			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:91132816A>C	ENST00000373094.1	+	2	2422	c.1577A>C	c.(1576-1578)aAg>aCg	p.K526T	PCDH11X_ENST00000504220.2_Missense_Mutation_p.K526T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K526T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K526T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K526T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K526T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K526T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K526T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K526T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGTAGTGAAGAAACTAGAT	0.438																																					NSCLC(38;925 1092 2571 38200 45895)												0													61	57	58					X																	91132816		2203	4300	6503	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1577A>C	X.37:g.91132816A>C	ENSP00000362186:p.Lys526Thr		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K526T	ENST00000373094.1	37	c.1577	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	A	1.218	-0.627737	0.03610	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.38	4.23	0.50019	Cadherin (4);Cadherin-like (1);	0.216100	0.46145	D	0.000312	T	0.36908	0.0984	N	0.25789	0.76	0.37346	D	0.910592	P;B;P;P;P;P;P;P	0.45768	0.837;0.006;0.837;0.837;0.837;0.866;0.735;0.735	B;B;P;P;P;P;B;B	0.48873	0.287;0.017;0.457;0.457;0.457;0.593;0.287;0.287	T	0.51284	-0.8725	10	0.02654	T	1	.	4.4999	0.11858	0.7079:0.0:0.2921:0.0	.	526;526;526;526;526;526;526;526	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	526	ENSP00000378746:K526T;ENSP00000362186:K526T;ENSP00000362189:K526T;ENSP00000355040:K526T;ENSP00000362180:K526T;ENSP00000423762:K526T;ENSP00000355105:K526T;ENSP00000384758:K526T;ENSP00000298274:K526T	ENSP00000298274:K526T	K	+	2	0	PCDH11X	91019472	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	4.012000	0.57131	1.786000	0.52430	0.441000	0.28932	AAG	PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000102290		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	30	0	A	NM_032969		91132816	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	94.12	2	32	SNP	1.000	C	C	91132816	A	C	91132816	3	2	79	1	0	0	0	0	1	0	0	0	11547	72	3	4	1583	4	PCDH11X	23	91132816	Missense_Mutation	SNP	A	TCGA-L5-A8NE-01A-11D-A37C-09	8003737	91132816	64137744	340	20996											
RPA4	29935	genome.wustl.edu	37	chrX	96139622	96139622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgaaaccaatcgaggccCgacagtggtttggtagagag	11	6	14	10	4	0	1	0	0	0	1	1	5	0	1	3	3	1	2	3	3	3	2			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:96139622C>T	ENST00000373040.3	+	1	716	c.313C>T	c.(313-315)Cga>Tga	p.R105*	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	105					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AATCGAGGCCCGACAGTGGTT	0.468								Other identified genes with known or suspected DNA repair function																																									0													90	78	82					X																	96139622		2203	4300	6503	SO:0001587	stop_gained	0			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.313C>T	X.37:g.96139622C>T	ENSP00000362131:p.Arg105*		Q3SY03	Nonsense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32	p.R105*	ENST00000373040.3	37	c.313	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499659	0.85176	.	.	ENSG00000204086	ENST00000373040	.	.	.	3.66	-7.33	0.01431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3402	0.897	0.01266	0.2126:0.1555:0.209:0.4229	.	.	.	.	X	105	.	ENSP00000362131:R105X	R	+	1	2	RPA4	96026278	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-3.238000	0.00545	-2.655000	0.00422	0.600000	0.82982	CGA	RPA4	-	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32	ENSG00000204086		0.468	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	-	0	18	0	C	NM_013347		96139622	1	tier1	-	no_errors	ENST00000373040	ensembl	human	known	74_37	nonsense	84.62	2	11	SNP	0.000	T	T	96139622	C	T	96139622	4	4	79	1	0	0	0	0	0	1	0	0	13584	644	23	1	315	1	RPA4	23	96139622	Nonsense_Mutation	SNP	C	TCGA-L5-A8NE-01A-11D-A37C-09	5006806	96139622	59130938	341	20997											
SMARCA1	6594	genome.wustl.edu	37	chrX	128605259	128605259	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatctttttttgctcttcTctttgagccagagctggatt	6	19	7	9	0	4	2	1	1	3	1	5	3	4	3	1	1	3	2	1	1	1	6			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:128605259T>C	ENST00000371122.4	-	20	2616	c.2487A>G	c.(2485-2487)agA>agG	p.R829R	SMARCA1_ENST00000371121.3_Silent_p.R817R|SMARCA1_ENST00000371123.1_Silent_p.R817R	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	829					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTGCTCTTCTCTTTGAGCCA	0.353																																																	0													141	130	134					X																	128605259		2203	4300	6503	SO:0001819	synonymous_variant	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2487A>G	X.37:g.128605259T>C			Q5JV41|Q5JV42	Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R829	ENST00000371122.4	37	c.2487	CCDS14612.1	X																																																																																			SMARCA1	-	pfam_ISWI_HAND-dom,superfamily_ISWI_HAND-dom	ENSG00000102038		0.353	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1		0	44	0	T	NM_003069		128605259	-1			no_errors	ENST00000371122	ensembl	human	known	74_37	silent	5.36	53	3	SNP	1.000	C	C	128605259	T	C	128605259	2	2	79	1	0	0	0	0	0	0	0	1	14813	1548	54	4		4	SMARCA1	23	128605259	Silent	SNP	T	TCGA-L5-A8NE-01A-11D-A37C-09	32465637	128605259	26665301	342	20998											
ELF4	2000	genome.wustl.edu	37	chrX	129200949	129200949	+	Frame_Shift_Del	DEL	G	G	-																															ccctggaaaccacctgggttGgaagtggctgaagatgagcc																										TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:129200949delG	ENST00000308167.5	-	9	2118	c.1739delC	c.(1738-1740)ccafs	p.P580fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.P580fs	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CACCTGGGTTGGAAGTGGCTG	0.617			T	ERG	AML																																			Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0													90	94	93					X																	129200949		2203	4300	6503	SO:0001589	frameshift_variant	0			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1739delC	X.37:g.129200949delG	ENSP00000311280:p.Pro580fs			Frame_Shift_Del	DEL	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P580fs	ENST00000308167.5	37	c.1739	CCDS14617.1	X																																																																																			ELF4	-	NULL	ENSG00000102034		0.617	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	HGNC	protein_coding	OTTHUMT00000058243.1		0	69	0	G	NM_001421		129200949	-1	tier1		no_errors	ENST00000308167	ensembl	human	known	74_37	frame_shift_del	73.33	12	33	DEL	1.000	-	-	129200949	G	-	129200949	7	5	79	1	0	1	0	1	0	0	0	0	5072	1348	47	0	256	0	ELF4	23	129200949	Frame_Shift_Del	DEL	G	TCGA-L5-A8NE-01A-11D-A37C-09	595690	129200949	26069611	343	20999											
HS6ST2	90161	genome.wustl.edu	37	chrX	132090940	132090940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagctccagcccgtggaGaacctggagaagagccaggt	10	4	14	13	2	0	3	0	0	0	3	1	5	1	3	5	3	4	2	5	3	2	0			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:132090940G>T	ENST00000370836.2	-	3	1258	c.843C>A	c.(841-843)ttC>ttA	p.F281L	HS6ST2_ENST00000521489.1_Missense_Mutation_p.F281L|HS6ST2_ENST00000370833.2_Missense_Mutation_p.F135L	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	281					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AGCCCGTGGAGAACCTGGAGA	0.657																																																	0													18	22	21					X																	132090940		2178	4256	6434	SO:0001583	missense	0			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.843C>A	X.37:g.132090940G>T	ENSP00000359873:p.Phe281Leu		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.F281L	ENST00000370836.2	37	c.843	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	g	16.40	3.113437	0.56398	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000370833;ENST00000319809	T;T;T;T	0.74421	1.2;1.2;-0.84;-0.84	4.56	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.85945	2.785	0.80722	D	1	B;B	0.29378	0.027;0.243	B;B	0.33846	0.109;0.171	T	0.77078	-0.2721	10	0.87932	D	0	0.111	10.4945	0.44770	0.0983:0.0:0.9017:0.0	.	281;281	Q96MM7;E9PDY5	H6ST2_HUMAN;.	L	135;281;281;135;122	ENSP00000359874:F135L;ENSP00000359873:F281L;ENSP00000429473:F281L;ENSP00000359870:F135L	ENSP00000324617:F122L	F	-	3	2	HS6ST2	131918622	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.161000	0.64935	0.926000	0.37118	0.525000	0.51046	TTC	HS6ST2	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000171004		0.657	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	-	0	28	0	G	NM_147174		132090940	-1	tier1	-	no_errors	ENST00000521489	ensembl	human	known	74_37	missense	80.56	7	29	SNP	1.000	T	T	132090940	G	T	132090940	3	4	79	1	0	0	0	0	1	0	0	0	7398	933	33	3	1110	3	HS6ST2	23	132090940	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	2889991	132090940	23179620	344	21000											
ATP11C	286410	genome.wustl.edu	37	chrX	138897121	138897121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttcattgtcagctctGtgtctcagacaatcctcata	9	15	6	11	0	5	2	4	1	2	1	7	2	6	2	1	0	1	1	1	0	2	4			TCGA-L5-A8NE-01A-11D-A37C-09	TCGA-L5-A8NE-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f6782b67-ba4d-4ad2-bf1d-72d57c81ab9f	0d8cf159-3ae8-476d-8eed-6db88565e839	g.chrX:138897121G>T	ENST00000327569.3	-	5	449	c.351C>A	c.(349-351)caC>caA	p.H117Q	ATP11C_ENST00000359686.2_Missense_Mutation_p.H117Q|ATP11C_ENST00000370557.1_Missense_Mutation_p.H114Q|ATP11C_ENST00000370543.1_Missense_Mutation_p.H117Q|ATP11C_ENST00000361648.2_Missense_Mutation_p.H117Q	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	117					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTCAGCTCTGTGTCTCAGAC	0.303																																																	0													90	77	82					X																	138897121		2202	4296	6498	SO:0001583	missense	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.351C>A	X.37:g.138897121G>T	ENSP00000332756:p.His117Gln		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.H117Q	ENST00000327569.3	37	c.351	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772804	0.49680	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.29	2.39	0.29439	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.93729	0.7996	M	0.87900	2.915	0.41300	D	0.987031	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	D	0.91708	0.5379	10	0.66056	D	0.02	.	7.9919	0.30246	0.3321:0.0:0.6679:0.0	.	117;117	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	Q	114;117;117;117;117	ENSP00000359588:H114Q;ENSP00000355165:H117Q;ENSP00000332756:H117Q;ENSP00000359574:H117Q;ENSP00000352715:H117Q	ENSP00000332756:H117Q	H	-	3	2	ATP11C	138724787	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	4.009000	0.57110	0.056000	0.16144	-1.268000	0.01426	CAC	ATP11C	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000101974		0.303	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	-	0	50	0	G	NM_173694		138897121	-1	tier1	-	no_errors	ENST00000327569	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	138897121	G	T	138897121	3	4	79	1	0	0	0	0	1	0	0	0	1122	1368	48	3	3214	3	ATP11C	23	138897121	Missense_Mutation	SNP	G	TCGA-L5-A8NE-01A-11D-A37C-09	6806181	138897121	16373439	345	21001											
PRKCZ	5590	genome.wustl.edu	37	chr1	2087464	2087464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtacagacagagaagcacGtgtttgagcaggcatccagc	12	6	14	9	1	0	3	0	1	0	2	1	4	1	3	1	2	4	5	1	2	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:2087464G>T	ENST00000400921.2	+	7	1041	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.V120L	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	303	Interaction with SQSTM1. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	AGAGAAGCACGTGTTTGAGCA	0.507																																																	0													184	168	174					1																	2087464		2203	4300	6503	SO:0001583	missense	0			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.358G>T	1.37:g.2087464G>T	ENSP00000383712:p.Val120Leu		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.V303L	ENST00000400921.2	37	c.907	CCDS41229.1	1	.	.	.	.	.	.	.	.	.	.	g	27.4	4.825079	0.90955	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920;ENST00000486681	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	4.35	4.35	0.52113	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68284	0.2984	L	0.28274	0.84	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.971;0.971;0.971	T	0.73372	-0.4003	10	0.87932	D	0	.	16.4442	0.83910	0.0:0.0:1.0:0.0	.	199;127;303	E9PCW2;B3KUN5;Q05513	.;.;KPCZ_HUMAN	L	303;120;199;120;116	ENSP00000367830:V303L;ENSP00000383712:V120L;ENSP00000426412:V199L;ENSP00000383711:V120L;ENSP00000424763:V116L	ENSP00000367830:V303L	V	+	1	0	PRKCZ	2077324	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.964000	0.93389	2.424000	0.82194	0.437000	0.28790	GTG	PRKCZ	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom	ENSG00000067606		0.507	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3		0	54	0	G	NM_002744		2087464	1			no_errors	ENST00000378567	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	2087464	G	T	2087464	3	4	80	1	0	0	0	0	1	0	0	0	12559	1145	40	2	945	2	PRKCZ	1	2087464	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09		2087464	247163157	1	21002											
PLCH2	9651	genome.wustl.edu	37	chr1	2420795	2420795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccctctccacagatgcTcaagggcaagatcctcgtga	10	8	8	15	1	2	3	1	1	1	2	6	3	4	3	4	1	1	2	4	1	2	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:2420795T>C	ENST00000419816.2	+	9	1659	c.1385T>C	c.(1384-1386)cTc>cCc	p.L462P	RP3-395M20.2_ENST00000424657.1_RNA|PLCH2_ENST00000449969.1_Missense_Mutation_p.L435P|PLCH2_ENST00000378488.3_Missense_Mutation_p.L462P|PLCH2_ENST00000378486.3_Missense_Mutation_p.L462P|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	462	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCACAGATGCTCAAGGGCAAG	0.582																																																	0													100	102	102					1																	2420795		2129	4230	6359	SO:0001583	missense	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1385T>C	1.37:g.2420795T>C	ENSP00000389803:p.Leu462Pro		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L462P	ENST00000419816.2	37	c.1385		1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427060	0.62733	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.73363	-0.74;-0.74;-0.74	5.1	5.1	0.69264	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.077846	0.49305	D	0.000150	D	0.91650	0.7361	H	0.98866	4.355	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94675	0.7860	10	0.87932	D	0	.	14.0841	0.64944	0.0:0.0:0.0:1.0	.	309;250;435;462	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	P	435;462;462;309;250	ENSP00000397289:L435P;ENSP00000367747:L462P;ENSP00000367749:L462P	ENSP00000278878:L250P	L	+	2	0	PLCH2	2410655	1.000000	0.71417	0.965000	0.40720	0.114000	0.19823	7.773000	0.85462	1.922000	0.55676	0.459000	0.35465	CTC	PLCH2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C	ENSG00000149527		0.582	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	-	0	25	0	T	NM_014638		2420795	1	tier1	-	no_errors	ENST00000378486	ensembl	human	known	74_37	missense	21.88	25	7	SNP	0.999	C	C	2420795	T	C	2420795	3	2	80	1	0	0	0	0	1	0	0	0	12077	1551	54	4	1419	4	PLCH2	1	2420795	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	333331	2420795	246829826	2	21003											
SLC45A1	50651	genome.wustl.edu	37	chr1	8395635	8395635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctacgcaccctctgcGtcaaccacttcctgggtgag	7	8	11	15	3	2	1	1	1	1	0	3	1	3	1	3	2	3	2	3	2	2	2	rs367968730		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:8395635G>A	ENST00000471889.1	+	6	1967	c.1582G>A	c.(1582-1584)Gtc>Atc	p.V528I	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Missense_Mutation_p.V562I|SLC45A1_ENST00000289877.8_Missense_Mutation_p.V528I			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	528					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCTCTGCGTCAACCACTT	0.692													G|||	1	0.000199681	0	0	5008	,	,		17459	0.001		0	False		,,,				2504	0																0								G	ILE/VAL	0,4406		0,0,2203	63	60	61		1582	2.4	1	1		61	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A1	NM_001080397.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	528/749	8395635	1,13005	2203	4300	6503	SO:0001583	missense	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"Solute carriers"	17939	protein-coding gene	gene with protein product	"H+/sugar symporter"	605763	"deleted in neuroblastoma 5"	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1582G>A	1.37:g.8395635G>A	ENSP00000418096:p.Val528Ile		Q5VY46|Q5VY49	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.V562I	ENST00000471889.1	37	c.1684	CCDS30577.1	1	.	.	.	.	.	.	.	.	.	.	G	8.312	0.822315	0.16678	0.0	1.16E-4	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.90261	-2.64;-2.64;-2.64	4.78	2.44	0.29823	Major facilitator superfamily domain, general substrate transporter (1);	0.157326	0.56097	N	0.000031	T	0.75466	0.3853	N	0.10664	0.02	0.30459	N	0.774498	B	0.09022	0.002	B	0.04013	0.001	T	0.65240	-0.6216	10	0.25106	T	0.35	-45.5034	4.55	0.12107	0.4485:0.0:0.5515:0.0	.	528	Q9Y2W3	S45A1_HUMAN	I	528;562;528	ENSP00000418096:V528I;ENSP00000366699:V562I;ENSP00000289877:V528I	ENSP00000289877:V528I	V	+	1	0	SLC45A1	8318222	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	3.980000	0.56895	1.124000	0.41980	0.555000	0.69702	GTC	SLC45A1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000162426		0.692	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	-	0	49	0	G			8395635	1	tier1	-	no_errors	ENST00000377479	ensembl	human	known	74_37	missense	27.71	60	23	SNP	1.000	A	A	8395635	G	A	8395635	3	1	80	1	0	0	0	0	1	0	0	0	14685	1145	40	1	1600	1	SLC45A1	1	8395635	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5974840	8395635	240854986	3	21004											
TARDBP	23435	genome.wustl.edu	37	chr1	11080620	11080620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttcatccccaagccattCagggcctttgcctttgttac	6	14	7	14	0	3	0	2	0	1	0	4	0	4	0	5	1	3	1	5	1	2	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:11080620C>T	ENST00000240185.3	+	5	792	c.678C>T	c.(676-678)ttC>ttT	p.F226F	TARDBP_ENST00000315091.3_Silent_p.F226F|TARDBP_ENST00000439080.2_Silent_p.F110F	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	226	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		CCAAGCCATTCAGGGCCTTTG	0.517																																																	0													124	122	122					1																	11080620		2203	4300	6503	SO:0001819	synonymous_variant	0			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"RNA binding motif (RRM) containing"	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.678C>T	1.37:g.11080620C>T			A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F226	ENST00000240185.3	37	c.678	CCDS122.1	1																																																																																			TARDBP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000120948		0.517	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARDBP	HGNC	protein_coding	OTTHUMT00000006063.1	-	0	74	0	C	NM_007375		11080620	1	tier1	-	no_errors	ENST00000240185	ensembl	human	known	74_37	silent	15.38	66	12	SNP	1.000	T	T	11080620	C	T	11080620	2	4	80	1	0	0	0	0	0	0	0	1	15604	825	29	3		3	TARDBP	1	11080620	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2684985	11080620	238170001	4	21005											
MTHFR	4524	genome.wustl.edu	37	chr1	11852371	11852371	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtaattaacccggagctcGtacttcttcagcacttgcag	9	12	9	11	2	2	0	1	0	1	0	3	1	2	1	1	2	5	5	1	2	3	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:11852371G>C	ENST00000376592.1	-	9	1724	c.1596C>G	c.(1594-1596)taC>taG	p.Y532*	MTHFR_ENST00000376585.1_Nonsense_Mutation_p.Y573*|MTHFR_ENST00000376583.3_Nonsense_Mutation_p.Y573*|MTHFR_ENST00000376590.3_Nonsense_Mutation_p.Y532*			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	532					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CCCGGAGCTCGTACTTCTTCA	0.557																																																	0													117	120	119					1																	11852371		2203	4300	6503	SO:0001587	stop_gained	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"5,10-methylenetetrahydrofolate reductase (NADPH)"			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1596C>G	1.37:g.11852371G>C	ENSP00000365777:p.Tyr532*		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Nonsense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.Y573*	ENST00000376592.1	37	c.1719	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.273840	0.99652	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	.	.	.	5.18	-7.85	0.01192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1553	0.89689	0.7245:0.0:0.2755:0.0	.	.	.	.	X	532;573;532;573	.	ENSP00000365767:Y573X	Y	-	3	2	MTHFR	11774958	0.000000	0.05858	0.205000	0.23548	0.975000	0.68041	-2.467000	0.00993	-1.894000	0.01105	-0.339000	0.08088	TAC	MTHFR	-	NULL	ENSG00000177000		0.557	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	-	0	58	0	G	NM_005957		11852371	-1	tier1	-	no_errors	ENST00000376583	ensembl	human	known	74_37	nonsense	25.86	43	15	SNP	0.078	C	C	11852371	G	C	11852371	4	2	80	1	0	0	0	0	0	1	0	0	9969	1140	40	5	386	5	MTHFR	1	11852371	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	771751	11852371	237398250	5	21006											
PADI1	29943	genome.wustl.edu	37	chr1	17556668	17556668	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcaagctgaccatctgcCctcaagttgaaaatcgaaat	14	9	7	11	1	2	2	1	2	1	0	3	3	2	2	2	0	3	3	2	0	5	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:17556668C>G	ENST00000375471.4	+	9	1110	c.1018C>G	c.(1018-1020)Cct>Gct	p.P340A		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	340					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GACCATCTGCCCTCAAGTTGA	0.532																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													89	87	88					1																	17556668		2203	4300	6503	SO:0001583	missense	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1018C>G	1.37:g.17556668C>G	ENSP00000364620:p.Pro340Ala		A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.P340A	ENST00000375471.4	37	c.1018	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	C	6.551	0.469848	0.12461	.	.	ENSG00000142623	ENST00000375471	T	0.25085	1.82	4.99	4.99	0.66335	Protein-arginine deiminase, C-terminal (1);	0.379952	0.27134	N	0.020762	T	0.33789	0.0875	L	0.58101	1.795	0.80722	D	1	P	0.49358	0.923	P	0.54544	0.755	T	0.04427	-1.0952	10	0.17369	T	0.5	-11.3955	8.1127	0.30924	0.0:0.8266:0.0:0.1734	.	340	Q9ULC6	PADI1_HUMAN	A	340	ENSP00000364620:P340A	ENSP00000364620:P340A	P	+	1	0	PADI1	17429255	0.005000	0.15991	0.992000	0.48379	0.223000	0.24884	0.084000	0.14891	2.483000	0.83821	0.467000	0.42956	CCT	PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142623		0.532	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	-	0	44	0	C	NM_013358		17556668	1	tier1	-	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	21.31	48	13	SNP	0.893	G	G	17556668	C	G	17556668	3	3	80	1	0	0	0	0	1	0	0	0	11416	623	22	5	1052	5	PADI1	1	17556668	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	5704297	17556668	231693953	6	21007											
PADI6	353238	genome.wustl.edu	37	chr1	17720864	17720864	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagcatggattccattggGaacctgatggtgtccccacc	8	9	11	13	0	0	1	0	1	0	0	2	3	2	3	6	3	2	1	6	3	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:17720864G>T	ENST00000434762.2	+	0	1302							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATTCCATTGGGAACCTGATGG	0.572																																																	0													41	42	42					1																	17720864		1915	4134	6049			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720864G>T			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.572	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	-	0	48	0	G	NM_207421		17720864	1	tier1	-	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	8.51	43	4	SNP	0.999	T	T	17720864	G	T	17720864	1	4	80	0	1	0	0	0	0	0	0	0	11420	1161	41	3		3	PADI6	1	17720864	RNA	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	164196	17720864	231529757	7	21008											
CELA3A	10136	genome.wustl.edu	37	chr1	22333434	22333434	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgccgtccagctcgcCtcactccctcccgctggtga	5	8	11	17	3	1	2	1	1	0	1	5	3	4	2	5	2	2	2	5	2	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:22333434C>G	ENST00000290122.3	+	5	445	c.426C>G	c.(424-426)gcC>gcG	p.A142A		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	142	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCAGCTCGCCTCACTCCCTC	0.622																																																	0													123	108	113					1																	22333434		2200	4300	6500	SO:0001819	synonymous_variant	0			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.426C>G	1.37:g.22333434C>G			B1AQ53|Q9BRW4	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A142	ENST00000290122.3	37	c.426	CCDS220.1	1																																																																																			CELA3A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000142789		0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	-	0	60	0	C	NM_005747		22333434	1	tier1	-	no_errors	ENST00000290122	ensembl	human	known	74_37	silent	11.29	55	7	SNP	0.161	G	G	22333434	C	G	22333434	2	3	80	1	0	0	0	0	0	0	0	1	3220	668	24	5		5	CELA3A	1	22333434	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	4612570	22333434	226917187	8	21009											
C1orf63	57035	genome.wustl.edu	37	chr1	25571794	25571795	+	Splice_Site	INS	-	-	A																															ctaacagctccattcgatctINSaaaaaaaaaagagagagatt																								rs543739883|rs113744649	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:25571794_25571795insA	ENST00000243189.7	-	3	797		c.e3-2		RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000431849.2_Splice_Site|C1orf63_ENST00000417642.2_Splice_Site	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN												breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATTCGATCTAAAAAAAAAAG	0.337																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000243189.7:c.521-2->T	1.37:g.25571804_25571804dupA			A8K917|Q49AA4|Q5TH71|Q9GZP6	Splice_Site	INS	-	e2-2	ENST00000243189.7	37	c.500-3_500-2	CCDS260.1	1																																																																																			C1orf63	-	-	ENSG00000117616		0.337	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	HGNC	protein_coding	OTTHUMT00000101966.2		0	30	0	-		Intron	25571795	-1	tier1		no_errors	ENST00000417642	ensembl	human	known	74_37	splice_site_ins	15.15	28	5	INS	0.972:0.056	A	A	25571795	-	A	25571794	8	5	80	1	0	1	1	0	0	0	1	0	2060	1536	53	0	365	0	C1orf63	1	25571794	Splice_Site	INS	-	TCGA-L5-A8NF-01A-11D-A37C-09	3238360	25571794	223678827	9	21010											
EPHA10	284656	genome.wustl.edu	37	chr1	38185090	38185090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgtgggaacgtacctggGacaggtagtcagggcacact	10	7	14	10	1	1	0	1	0	0	0	1	2	1	2	2	4	2	3	2	4	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:38185090G>T	ENST00000373048.4	-	15	2751	c.2752C>A	c.(2752-2754)Ccc>Acc	p.P918T	EPHA10_ENST00000330210.7_Missense_Mutation_p.P413T|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.P918T|EPHA10_ENST00000540011.1_Intron	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	918					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGTACCTGGGACAGGTAGTC	0.632																																																	0													26	32	30					1																	38185090		2046	4178	6224	SO:0001583	missense	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2752C>A	1.37:g.38185090G>T	ENSP00000362139:p.Pro918Thr		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P918T	ENST00000373048.4	37	c.2752	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476643	0.26511	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.62364	0.03;0.03;0.03	5.04	3.1	0.35709	Protein kinase-like domain (1);	1.057850	0.07544	N	0.914294	T	0.50171	0.1600	N	0.19112	0.55	0.80722	D	1	B	0.15141	0.012	B	0.18871	0.023	T	0.11542	-1.0583	10	0.35671	T	0.21	.	12.748	0.57291	0.0:0.3351:0.6649:0.0	.	918	Q5JZY3	EPHAA_HUMAN	T	413;918;918	ENSP00000330379:P413T;ENSP00000397746:P918T;ENSP00000362139:P918T	ENSP00000330379:P413T	P	-	1	0	EPHA10	37957677	0.309000	0.24518	1.000000	0.80357	0.496000	0.33645	0.325000	0.19628	0.606000	0.29965	0.491000	0.48974	CCC	EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom	ENSG00000183317		0.632	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2		0	20	0	G	NM_173641		38185090	-1			no_errors	ENST00000427468	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	38185090	G	T	38185090	3	4	80	1	0	0	0	0	1	0	0	0	5182	1174	41	3	286	3	EPHA10	1	38185090	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	12613296	38185090	211065531	10	21011											
FGGY	55277	genome.wustl.edu	37	chr1	60073514	60073514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtaccaggcgtctgggggCcttatttctcagccatggta	6	13	12	10	1	2	0	1	0	2	0	3	0	2	0	3	4	2	2	3	4	3	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:60073514C>A	ENST00000303721.7	+	9	1117	c.943C>A	c.(943-945)Cct>Act	p.P315T	FGGY_ENST00000371210.1_Missense_Mutation_p.P16T|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.P227T|FGGY_ENST00000371218.4_Missense_Mutation_p.P315T	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	315					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CGTCTGGGGGCCTTATTTCTC	0.463																																																	0													130	132	131					1																	60073514		2203	4300	6503	SO:0001583	missense	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.943C>A	1.37:g.60073514C>A	ENSP00000305922:p.Pro315Thr		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.P315T	ENST00000303721.7	37	c.943	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715873	0.89112	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	5.65	5.65	0.86999	Carbohydrate kinase, FGGY, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93249	0.7849	M	0.85710	2.77	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.92947	0.6377	9	.	.	.	-15.6317	18.6545	0.91445	0.0:1.0:0.0:0.0	.	315;227;315;315	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	T	315;315;227;16	ENSP00000360262:P315T;ENSP00000305922:P315T;ENSP00000360256:P227T;ENSP00000360254:P16T	.	P	+	1	0	FGGY	59846102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.409000	0.73289	2.941000	0.99782	0.655000	0.94253	CCT	FGGY	-	pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.463	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	-	0	74	0	C	NM_001113411		60073514	1	tier1	-	no_errors	ENST00000303721	ensembl	human	known	74_37	missense	43.04	45	34	SNP	1.000	A	A	60073514	C	A	60073514	3	1	80	1	0	0	0	0	1	0	0	0	5893	739	26	3	973	3	FGGY	1	60073514	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	21888424	60073514	189177107	11	21012											
INADL	10207	genome.wustl.edu	37	chr1	62579862	62579862	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttggagattttcccTgtggatctgcagaagaaagc	12	10	12	7	0	1	4	0	0	1	4	2	7	2	5	1	2	3	1	1	2	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:62579862T>C	ENST00000371158.2	+	35	4713	c.4599T>C	c.(4597-4599)ccT>ccC	p.P1533P	INADL_ENST00000545929.1_Silent_p.P178P|INADL_ENST00000316485.6_Silent_p.P1563P|INADL_ENST00000543708.1_Silent_p.P347P	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1533	PDZ 9. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATTTTCCCTGTGGATCTGC	0.567																																																	0													78	79	79					1																	62579862		2203	4300	6503	SO:0001819	synonymous_variant	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.4599T>C	1.37:g.62579862T>C			O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.P1533	ENST00000371158.2	37	c.4599	CCDS617.2	1																																																																																			INADL	-	superfamily_PDZ,pfscan_PDZ	ENSG00000132849		0.567	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2		0	70	0	T	NM_170605		62579862	1			no_errors	ENST00000371158	ensembl	human	known	74_37	silent	6.15	60	4	SNP	0.003	C	C	62579862	T	C	62579862	2	2	80	1	0	0	0	0	0	0	0	1	7758	1567	55	4		4	INADL	1	62579862	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	2506348	62579862	186670759	12	21013											
IL12RB2	3595	genome.wustl.edu	37	chr1	67792431	67792431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagttgctccagaacaGcctcaaaatttatcctgcat	13	13	5	10	0	1	1	1	0	0	1	3	1	3	1	3	0	4	3	3	0	6	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:67792431G>T	ENST00000262345.1	+	4	1018	c.378G>T	c.(376-378)caG>caT	p.Q126H	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Q126H|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Q126H|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Q126H	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	126	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTCCAGAACAGCCTCAAAATT	0.413																																																	0													87	85	86					1																	67792431		2203	4300	6503	SO:0001583	missense	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.378G>T	1.37:g.67792431G>T	ENSP00000262345:p.Gln126His		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q126H	ENST00000262345.1	37	c.378	CCDS638.1	1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443781	0.43429	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.89	3.01	0.34805	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.557981	0.21489	N	0.073716	T	0.25232	0.0613	M	0.73962	2.25	0.32670	N	0.516901	D;D;D;D	0.71674	0.966;0.998;0.989;0.989	P;D;P;P	0.64595	0.706;0.927;0.846;0.87	T	0.08066	-1.0740	10	0.48119	T	0.1	-0.8813	7.539	0.27727	0.2684:0.0:0.7316:0.0	.	126;126;126;126	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	H	126	ENSP00000262345:Q126H;ENSP00000360039:Q126H;ENSP00000445276:Q126H;ENSP00000442443:Q126H	ENSP00000262345:Q126H	Q	+	3	2	IL12RB2	67565019	1.000000	0.71417	0.996000	0.52242	0.411000	0.31082	0.944000	0.29043	0.392000	0.25172	0.563000	0.77884	CAG	IL12RB2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000081985		0.413	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2	-	0	38	0	G	NM_001559		67792431	1	tier1	-	no_errors	ENST00000262345	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	67792431	G	T	67792431	3	4	80	1	0	0	0	0	1	0	0	0	7654	962	34	3	388	3	IL12RB2	1	67792431	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5212569	67792431	181458190	13	21014											
SERBP1	26135	genome.wustl.edu	37	chr1	67880930	67880930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccgccacgtcctgggcgGccaaggtctccaaaattgat	8	8	11	14	3	1	1	0	1	1	0	3	1	2	1	5	3	1	0	5	3	3	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:67880930G>A	ENST00000370995.2	-	7	1174	c.1089C>T	c.(1087-1089)ggC>ggT	p.G363G	SERBP1_ENST00000370994.4_Silent_p.G342G|SERBP1_ENST00000370990.5_Silent_p.G357G|SERBP1_ENST00000361219.6_Silent_p.G348G|RNU6-387P_ENST00000411331.1_RNA			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	363					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTCCTGGGCGGCCAAGGTCTC	0.532																																																	0													52	57	55					1																	67880930		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.1089C>T	1.37:g.67880930G>A			Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Silent	SNP	pfam_HABP4_PAIRBP1-bd	p.G363	ENST00000370995.2	37	c.1089	CCDS30746.1	1																																																																																			SERBP1	-	NULL	ENSG00000142864		0.532	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERBP1	HGNC	protein_coding	OTTHUMT00000025984.2	-	0	40	0	G	NM_001018067		67880930	-1	tier1	-	no_errors	ENST00000370995	ensembl	human	known	74_37	silent	7.58	61	5	SNP	1.000	A	A	67880930	G	A	67880930	2	1	80	1	0	0	0	0	0	0	0	1	14120	1190	42	3		3	SERBP1	1	67880930	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	88499	67880930	181369691	14	21015											
NEGR1	257194	genome.wustl.edu	37	chr1	71873192	71873192	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggacagtgtcaacacaagGtaccagcaggagaaaagaac	18	3	12	8	0	1	2	1	0	0	2	1	5	1	3	1	3	4	2	1	3	6	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:71873192G>T	ENST00000357731.5	-	7	1241	c.1002C>A	c.(1000-1002)taC>taA	p.Y334*	ZRANB2-AS2_ENST00000590186.1_RNA|ZRANB2-AS2_ENST00000587066.1_RNA|ZRANB2-AS2_ENST00000586006.1_RNA|ZRANB2-AS2_ENST00000587306.1_RNA|ZRANB2-AS2_ENST00000430605.1_RNA|ZRANB2-AS2_ENST00000585499.1_RNA|NEGR1_ENST00000306821.3_Nonsense_Mutation_p.Y206*|ZRANB2-AS2_ENST00000585415.1_RNA|NEGR1_ENST00000434200.1_Nonsense_Mutation_p.Y288*|ZRANB2-AS2_ENST00000608579.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	334					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAACACAAGGTACCAGCAGG	0.393																																																	0													90	89	89					1																	71873192		2203	4299	6502	SO:0001587	stop_gained	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.1002C>A	1.37:g.71873192G>T	ENSP00000350364:p.Tyr334*		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Y334*	ENST00000357731.5	37	c.1002	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.316649	0.95682	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	.	.	.	5.85	4.93	0.64822	.	0.474781	0.22602	N	0.057955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5122	15.3678	0.74538	0.0678:0.0:0.9322:0.0	.	.	.	.	X	334;206;288	.	ENSP00000305938:Y206X	Y	-	3	2	NEGR1	71645780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.032000	0.76498	2.773000	0.95371	0.655000	0.94253	TAC	NEGR1	-	NULL	ENSG00000172260		0.393	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	-	0	56	0	G	NM_173808		71873192	-1	tier1	-	no_errors	ENST00000357731	ensembl	human	known	74_37	nonsense	20.78	61	16	SNP	1.000	T	T	71873192	G	T	71873192	4	4	80	1	0	0	0	0	0	1	0	0	10356	1256	44	3	66	3	NEGR1	1	71873192	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	3992262	71873192	177377429	15	21016											
GBP7	388646	genome.wustl.edu	37	chr1	89618084	89618084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaaactcgctggagtcCtcaacttcatcaggtctggg	9	10	9	13	1	5	0	4	0	1	0	7	1	6	1	1	3	2	1	1	3	2	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:89618084C>T	ENST00000294671.2	-	5	630	c.492G>A	c.(490-492)gaG>gaA	p.E164E		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	164	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CGCTGGAGTCCTCAACTTCAT	0.483																																																	0													149	139	142					1																	89618084		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.492G>A	1.37:g.89618084C>T				Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.E164	ENST00000294671.2	37	c.492	CCDS720.1	1																																																																																			GBP7	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000213512		0.483	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	-	0	74	0	C	NM_207398		89618084	-1	tier1	-	no_errors	ENST00000294671	ensembl	human	known	74_37	silent	28.57	40	16	SNP	0.044	T	T	89618084	C	T	89618084	2	4	80	1	0	0	0	0	0	0	0	1	6304	680	24	3		3	GBP7	1	89618084	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	17744892	89618084	159632537	16	21017											
ATXN7L2	127002	genome.wustl.edu	37	chr1	110029160	110029160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgggcactgccctgcccatGatgacttctacttggttgtg	5	13	11	12	1	1	2	0	2	1	0	2	2	1	2	2	2	3	2	2	2	1	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:110029160G>C	ENST00000369870.3	+	3	241	c.226G>C	c.(226-228)Gat>Cat	p.D76H		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	76										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCTGCCCATGATGACTTCTA	0.542																																																	0													70	57	61					1																	110029160		2203	4300	6503	SO:0001583	missense	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.226G>C	1.37:g.110029160G>C	ENSP00000358886:p.Asp76His			Missense_Mutation	SNP	pfam_SCA7_dom	p.D76H	ENST00000369870.3	37	c.226	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153006	0.78001	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.32515	1.45	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000016	T	0.46328	0.1387	L	0.61036	1.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49943	-0.8885	10	0.87932	D	0	-12.1933	16.801	0.85614	0.0:0.0:1.0:0.0	.	76	Q5T6C5	AT7L2_HUMAN	H	76	ENSP00000358886:D76H	ENSP00000358886:D76H	D	+	1	0	ATXN7L2	109830683	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.243000	0.95416	2.346000	0.79739	0.484000	0.47621	GAT	ATXN7L2	-	NULL	ENSG00000162650		0.542	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1		0	29	0	G	NM_153340		110029160	1			no_errors	ENST00000369870	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	C	C	110029160	G	C	110029160	3	2	80	1	0	0	0	0	1	0	0	0	1218	1290	45	5	236	5	ATXN7L2	1	110029160	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	20411076	110029160	139221461	17	21018											
AHCYL1	10768	genome.wustl.edu	37	chr1	110557445	110557445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctggtggtgtattgaccGctgtgtgaacatggatgggt	6	14	15	6	1	1	2	0	2	1	0	1	3	1	3	1	4	1	2	1	4	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:110557445G>T	ENST00000369799.5	+	6	1008	c.641G>T	c.(640-642)cGc>cTc	p.R214L	AHCYL1_ENST00000359172.3_Missense_Mutation_p.R167L|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.R167L	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	214					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.R214H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGTATTGACCGCTGTGTGAAC	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											213	190	198					1																	110557445		2203	4300	6503	SO:0001583	missense	0			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.641G>T	1.37:g.110557445G>T	ENSP00000358814:p.Arg214Leu		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.R214L	ENST00000369799.5	37	c.641	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905056	0.72868	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78481	-1.18;-1.18;-1.18	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.70787	2.145	0.80722	D	1	P	0.38767	0.646	B	0.31946	0.138	T	0.77064	-0.2726	10	0.87932	D	0	-9.99	20.8794	0.99867	0.0:0.0:1.0:0.0	.	214	O43865	SAHH2_HUMAN	L	214;167;167	ENSP00000358814:R214L;ENSP00000352092:R167L;ENSP00000377238:R167L	ENSP00000352092:R167L	R	+	2	0	AHCYL1	110358968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.946000	0.87746	2.941000	0.99782	0.655000	0.94253	CGC	AHCYL1	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000168710		0.438	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1		0	37	0	G			110557445	1			no_errors	ENST00000369799	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	110557445	G	T	110557445	3	4	80	1	0	0	0	0	1	0	0	0	410	1087	38	2	663	2	AHCYL1	1	110557445	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	528285	110557445	138693176	18	21019											
PEX11B	8799	genome.wustl.edu	37	chr1	145522905	145522905	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctaatctatccctggctaCgactcaagccctgaccttcc	8	10	5	18	1	2	1	1	1	1	0	4	2	4	1	5	1	2	1	5	1	4	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:145522905C>T	ENST00000369306.3	+	4	915	c.766C>T	c.(766-768)Cga>Tga	p.R256*	PEX11B_ENST00000537888.1_Nonsense_Mutation_p.R242*|ITGA10_ENST00000538811.1_5'Flank|ITGA10_ENST00000539363.1_5'Flank|ITGA10_ENST00000369304.3_5'Flank	NM_003846.2	NP_003837.1	O96011	PX11B_HUMAN	peroxisomal biogenesis factor 11 beta	256	Interaction with PEX19 and peroxisome targeting.				peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|protein homooligomerization (GO:0051260)|regulation of peroxisome size (GO:0044375)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCCTGGCTACGACTCAAGCC	0.547																																																	0													85	76	79					1																	145522905		2203	4300	6503	SO:0001587	stop_gained	0			AF093670	CCDS72870.1, CCDS72871.1	1q21	2008-08-26	2008-08-26		ENSG00000131779	ENSG00000131779			8853	protein-coding gene	gene with protein product		603867	"peroxisomal biogenesis factor 11B"			9792670	Standard	NM_003846		Approved		uc001eny.2	O96011	OTTHUMG00000013756	ENST00000369306.3:c.766C>T	1.37:g.145522905C>T	ENSP00000358312:p.Arg256*		B3KN85|B4DXH9|Q96ET2	Nonsense_Mutation	SNP	pfam_PEX11	p.R256*	ENST00000369306.3	37	c.766	CCDS917.1	1	.	.	.	.	.	.	.	.	.	.	C	37	5.980015	0.97168	.	.	ENSG00000131779	ENST00000369306;ENST00000537888;ENST00000428634	.	.	.	5.44	4.52	0.55395	.	0.065095	0.64402	D	0.000010	.	.	.	.	.	.	0.42411	D	0.992604	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-7.3181	11.2048	0.48762	0.3336:0.6664:0.0:0.0	.	.	.	.	X	256;242;78	.	ENSP00000358312:R256X	R	+	1	2	PEX11B	144234262	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.367000	0.52350	1.516000	0.48900	0.655000	0.94253	CGA	PEX11B	-	NULL	ENSG00000131779		0.547	PEX11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX11B	HGNC	protein_coding	OTTHUMT00000038549.1		0	11	0	C	NM_003846		145522905	1			no_errors	ENST00000369306	ensembl	human	known	74_37	nonsense	11.54	23	3	SNP	1.000	T	T	145522905	C	T	145522905	4	4	80	1	0	0	0	0	0	1	0	0	11777	528	19	1	798	1	PEX11B	1	145522905	Nonsense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	34965460	145522905	103727716	19	21020											
ANXA9	8416	genome.wustl.edu	37	chr1	150960781	150960781	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggtgatcaagaacacaccGctgtactttgctgacaaact	12	10	8	11	2	1	3	1	2	0	1	2	3	1	3	1	1	4	3	1	1	4	2	rs372215070		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:150960781G>T	ENST00000368947.4	+	12	1292	c.816G>T	c.(814-816)ccG>ccT	p.P272P		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	272					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAACACACCGCTGTACTTTG	0.502																																																	0													155	143	147					1																	150960781		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"Annexins"	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.816G>T	1.37:g.150960781G>T			Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI	p.P272	ENST00000368947.4	37	c.816	CCDS975.2	1																																																																																			ANXA9	-	NULL	ENSG00000143412		0.502	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA9	HGNC	protein_coding	OTTHUMT00000084895.2		0	40	0	G	NM_003568		150960781	1			no_errors	ENST00000368947	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.553	T	T	150960781	G	T	150960781	2	4	80	1	0	0	0	0	0	0	0	1	725	1074	38	2		2	ANXA9	1	150960781	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5437876	150960781	98289840	20	21021											
NUP210L	91181	genome.wustl.edu	37	chr1	154042813	154042813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgatttataatcttcGaaatgggctagtgtttcatt	10	17	7	7	1	2	1	1	1	1	0	4	2	3	1	1	1	0	2	1	1	4	7			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:154042813G>T	ENST00000368559.3	-	17	2561	c.2490C>A	c.(2488-2490)ttC>ttA	p.F830L	NUP210L_ENST00000271854.3_Missense_Mutation_p.F830L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	830					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.F830F(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATAATCTTCGAAATGGGCTA	0.378																																																	1	Substitution - coding silent(1)	lung(1)											150	137	141					1																	154042813		1903	4107	6010	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2490C>A	1.37:g.154042813G>T	ENSP00000357547:p.Phe830Leu		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.F830L	ENST00000368559.3	37	c.2490	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159319	0.21454	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.40225	1.04;1.04	5.12	-2.93	0.05598	.	0.109297	0.40818	N	0.001017	T	0.12987	0.0315	L	0.53249	1.67	0.18873	N	0.999981	B;B	0.18863	0.031;0.031	B;B	0.17433	0.018;0.01	T	0.34428	-0.9829	10	0.26408	T	0.33	-25.5913	7.55	0.27790	0.3208:0.1574:0.5219:0.0	.	830;830	E7EP56;Q5VU65	.;P210L_HUMAN	L	830	ENSP00000357547:F830L;ENSP00000271854:F830L	ENSP00000271854:F830L	F	-	3	2	NUP210L	152309437	0.015000	0.18098	0.617000	0.29091	0.959000	0.62525	-0.833000	0.04396	-0.551000	0.06175	-0.451000	0.05528	TTC	NUP210L	-	NULL	ENSG00000143552		0.378	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	-	0	48	0	G	NM_207308		154042813	-1	tier1	-	no_errors	ENST00000368559	ensembl	human	known	74_37	missense	34.78	45	24	SNP	0.210	T	T	154042813	G	T	154042813	3	4	80	1	0	0	0	0	1	0	0	0	10800	1049	37	2	3272	2	NUP210L	1	154042813	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	3082032	154042813	95207808	21	21022											
DUSP12	11266	genome.wustl.edu	37	chr1	161719720	161719720	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggccgcggccgtcgcGgagccagatcacctgaggga	6	4	19	12	5	1	2	1	1	0	1	2	4	1	4	4	6	1	0	4	6	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:161719720G>T	ENST00000367943.4	+	1	161	c.129G>T	c.(127-129)gcG>gcT	p.A43A		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	43					cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CGGCCGTCGCGGAGCCAGATC	0.662																																																	0													26	29	28					1																	161719720		2203	4299	6502	SO:0001819	synonymous_variant	0			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.129G>T	1.37:g.161719720G>T			Q5VXA8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.A43	ENST00000367943.4	37	c.129	CCDS1234.1	1																																																																																			DUSP12	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000081721		0.662	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	HGNC	protein_coding	OTTHUMT00000083588.1		0	63	0	G	NM_007240		161719720	1			no_errors	ENST00000367943	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.127	T	T	161719720	G	T	161719720	2	4	80	1	0	0	0	0	0	0	0	1	4826	1103	39	2		2	DUSP12	1	161719720	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	7676907	161719720	87530901	22	21023											
DUSP12	11266	genome.wustl.edu	37	chr1	161721524	161721524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagactgaccaacttccCtttgaaaaagcctatgaaaa	17	9	6	9	0	0	5	0	4	0	1	1	5	1	5	3	0	2	0	3	0	7	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:161721524C>A	ENST00000367943.4	+	2	443	c.411C>A	c.(409-411)ccC>ccA	p.P137P		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	137	Tyrosine-protein phosphatase.				cellular protein modification process (GO:0006464)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of glucokinase activity (GO:0033133)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACCAACTTCCCTTTGAAAAAG	0.343																																																	0													115	118	117					1																	161721524		2203	4300	6503	SO:0001819	synonymous_variant	0			AF119226	CCDS1234.1	1q21-q22	2011-06-09			ENSG00000081721	ENSG00000081721		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	3067	protein-coding gene	gene with protein product	"serine/threonine specific protein phosphatase", "YVH1 protein-tyrosine phosphatase (S. cerevisiae) ortholog"	604835				10446167	Standard	XM_005244862		Approved	YVH1, DUSP1	uc001gbo.3	Q9UNI6	OTTHUMG00000034540	ENST00000367943.4:c.411C>A	1.37:g.161721524C>A			Q5VXA8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P137	ENST00000367943.4	37	c.411	CCDS1234.1	1																																																																																			DUSP12	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000081721		0.343	DUSP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP12	HGNC	protein_coding	OTTHUMT00000083588.1		0	45	0	C	NM_007240		161721524	1			no_errors	ENST00000367943	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.982	A	A	161721524	C	A	161721524	2	1	80	1	0	0	0	0	0	0	0	1	4826	668	24	3		3	DUSP12	1	161721524	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1804	161721524	87529097	23	21024											
RNF2	6045	genome.wustl.edu	37	chr1	185069041	185069041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatgaaccttgatacaGccagtgagaagcagtatacc	15	7	9	10	0	0	4	0	3	0	2	0	5	0	4	4	0	5	2	4	0	5	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:185069041G>A	ENST00000367510.3	+	6	1144	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	RNF2_ENST00000367509.4_Missense_Mutation_p.A214T	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	286					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CCTTGATACAGCCAGTGAGAA	0.418																																																	0													99	99	99					1																	185069041		2203	4300	6503	SO:0001583	missense	0			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"RING-type (C3HC4) zinc fingers"	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.856G>A	1.37:g.185069041G>A	ENSP00000356480:p.Ala286Thr		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A286T	ENST00000367510.3	37	c.856	CCDS1365.1	1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735741	0.69189	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	D	0.84800	-1.9	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.77718	0.4172	L	0.36672	1.1	0.80722	D	1	P;B	0.45011	0.848;0.026	B;B	0.34779	0.189;0.027	T	0.75736	-0.3213	10	0.15066	T	0.55	-6.2435	20.1822	0.98208	0.0:0.0:1.0:0.0	.	214;286	B3KRH1;Q99496	.;RING2_HUMAN	T	286;214	ENSP00000356480:A286T	ENSP00000356479:A214T	A	+	1	0	RNF2	183335664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.262000	0.95591	2.771000	0.95319	0.650000	0.86243	GCC	RNF2	-	NULL	ENSG00000121481		0.418	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF2	HGNC	protein_coding	OTTHUMT00000085793.1		0	57	0	G	NM_007212		185069041	1			no_errors	ENST00000367510	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	A	A	185069041	G	A	185069041	3	1	80	1	0	0	0	0	1	0	0	0	13517	971	34	3	874	3	RNF2	1	185069041	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	23347517	185069041	64181580	24	21025											
FAM5C	339479	genome.wustl.edu	37	chr1	190195440	190195440	+	Frame_Shift_Del	DEL	C	C	-																															aagatagtctgggagaagtaCttgaagcccttgaagaacaa																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:190195440delC	ENST00000367462.3	-	6	964	c.733delG	c.(733-735)gtafs	p.V245fs	BRINP3_ENST00000463404.1_5'Flank|BRINP3_ENST00000534846.1_Frame_Shift_Del_p.V143fs	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	245	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GGGAGAAGTACTTGAAGCCCT	0.308																																																	0													57	56	56					1																	190195440		2203	4300	6503	SO:0001589	frameshift_variant	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.733delG	1.37:g.190195440delC	ENSP00000356432:p.Val245fs		B3KVP1|B7Z260|O95726|Q2M330	Frame_Shift_Del	DEL	pfam_MACPF,smart_MACPF	p.V245fs	ENST00000367462.3	37	c.733	CCDS1373.1	1																																																																																			BRINP3	-	smart_MACPF	ENSG00000162670		0.308	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1		0	43	0	C	NM_199051		190195440	-1	tier1		no_errors	ENST00000367462	ensembl	human	known	74_37	frame_shift_del	20.69	23	6	DEL	1.000	-	-	190195440	C	-	190195440	7	5	80	1	0	1	0	1	0	0	0	0	5616	565	20	0	1579	0	FAM5C	1	190195440	Frame_Shift_Del	DEL	C	TCGA-L5-A8NF-01A-11D-A37C-09	5126399	190195440	59055181	25	21026											
CFHR2	3080	genome.wustl.edu	37	chr1	196928128	196928128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaatttgtttgtaaatctgGatatcatccaacaaaatctc	14	15	5	7	0	3	1	1	1	2	0	5	2	4	2	1	1	1	2	1	1	7	4	rs144918980		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:196928128G>T	ENST00000367415.5	+	5	831	c.731G>T	c.(730-732)gGa>gTa	p.G244V	CFHR2_ENST00000476712.2_Missense_Mutation_p.G228V|CFHR2_ENST00000367421.3_Missense_Mutation_p.G244V|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	244	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.G244A(1)|p.G244E(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGTAAATCTGGATATCATCCA	0.308																																																	2	Substitution - Missense(2)	lung(1)|skin(1)											55	58	57					1																	196928128		2203	4293	6496	SO:0001583	missense	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.731G>T	1.37:g.196928128G>T	ENSP00000356385:p.Gly244Val		Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G244V	ENST00000367415.5	37	c.731	CCDS30959.1	1	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883836	0.33255	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.77358	-1.09;-1.09	3.52	1.63	0.23807	Complement control module (2);Sushi/SCR/CCP (2);	0.757041	0.10816	N	0.630989	D	0.87051	0.6081	M	0.84948	2.725	0.43195	D	0.995038	D;D	0.89917	1.0;0.996	D;D	0.97110	1.0;0.915	T	0.81901	-0.0720	10	0.72032	D	0.01	.	6.4237	0.21758	0.1095:0.1863:0.7042:0.0	.	217;244	P36980-2;P36980	.;FHR2_HUMAN	V	244	ENSP00000356391:G244V;ENSP00000356385:G244V	ENSP00000356385:G244V	G	+	2	0	CFHR2	195194751	0.614000	0.27017	0.214000	0.23707	0.002000	0.02628	1.516000	0.35856	0.202000	0.20498	-1.184000	0.01707	GGA	CFHR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000080910		0.308	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR2	HGNC	protein_coding	OTTHUMT00000088815.2		0	24	0	G	NM_005666		196928128	1			no_errors	ENST00000367415	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.844	T	T	196928128	G	T	196928128	3	4	80	1	0	0	0	0	1	0	0	0	3292	1174	41	3	749	3	CFHR2	1	196928128	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6732688	196928128	52322493	26	21027											
TNNT2	7139	genome.wustl.edu	37	chr1	201331138	201331138	+	Frame_Shift_Del	DEL	T	T	-																															ctcagtctgcctcttcccacTtttccgctctgtctggaggg																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:201331138delT	ENST00000509001.1	-	13	878	c.592delA	c.(592-594)agtfs	p.S198fs	TNNT2_ENST00000458432.2_Frame_Shift_Del_p.S207fs|TNNT2_ENST00000367318.5_Frame_Shift_Del_p.S198fs|TNNT2_ENST00000360372.4_Frame_Shift_Del_p.S193fs|TNNT2_ENST00000367315.2_Frame_Shift_Del_p.S195fs|TNNT2_ENST00000367320.2_Frame_Shift_Del_p.S165fs|TNNT2_ENST00000236918.7_Frame_Shift_Del_p.S203fs|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367322.1_Frame_Shift_Del_p.S195fs|TNNT2_ENST00000421663.2_Frame_Shift_Del_p.S201fs|TNNT2_ENST00000367317.4_Frame_Shift_Del_p.S198fs	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	208					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCTTCCCACTTTTCCGCTCT	0.572											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													97	97	97					1																	201331138		2203	4300	6503	SO:0001589	frameshift_variant	0			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"troponin T2, cardiac", "cardiomyopathy, hypertrophic 2", "cardiomyopathy, dilated 1D (autosomal dominant)"	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.592delA	1.37:g.201331138delT	ENSP00000422031:p.Ser198fs	2121	A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Frame_Shift_Del	DEL	pfam_Troponin	p.S207fs	ENST00000509001.1	37	c.619	CCDS30969.1	1																																																																																			TNNT2	-	pfam_Troponin	ENSG00000118194		0.572	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1		0	46	0	T	NM_000364		201331138	-1	tier1		no_errors	ENST00000458432	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.414	-	-	201331138	T	-	201331138	7	5	80	1	0	1	0	1	0	0	0	0	16378	1609	56	0	290	0	TNNT2	1	201331138	Frame_Shift_Del	DEL	T	TCGA-L5-A8NF-01A-11D-A37C-09	4403010	201331138	47919483	27	21028											
PIK3C2B	5287	genome.wustl.edu	37	chr1	204425008	204425008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcccagatgatggggatgCggtgggtggcatagacagtg	9	8	18	6	1	0	3	0	1	0	2	0	4	0	4	1	5	2	1	1	5	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:204425008C>T	ENST00000367187.3	-	12	2475	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R640H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	640	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGGGGATGCGGTGGGTGGC	0.612																																																	0													56	55	55					1																	204425008		2203	4300	6503	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"phosphoinositide-3-kinase, class 2, beta polypeptide"			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1919G>A	1.37:g.204425008C>T	ENSP00000356155:p.Arg640His		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.R640H	ENST00000367187.3	37	c.1919	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677824	0.88445	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.71222	-0.55;-0.55	5.18	5.18	0.71444	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	L	0.36672	1.1	0.40721	D	0.982664	D;P	0.60575	0.988;0.48	P;B	0.54706	0.759;0.049	T	0.72972	-0.4129	10	0.38643	T	0.18	.	16.4479	0.83947	0.0:1.0:0.0:0.0	.	640;640	F5GWN5;O00750	.;P3C2B_HUMAN	H	640	ENSP00000356155:R640H;ENSP00000400561:R640H	ENSP00000356155:R640H	R	-	2	0	PIK3C2B	202691631	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.086000	0.76885	2.404000	0.81709	0.561000	0.74099	CGC	PIK3C2B	-	superfamily_C2_dom,smart_PI3K_C2_dom	ENSG00000133056		0.612	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0	31	0	C	NM_002646		204425008	-1	tier1	-	no_errors	ENST00000367187	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	204425008	C	T	204425008	3	4	80	1	0	0	0	0	1	0	0	0	11949	768	27	1	3077	1	PIK3C2B	1	204425008	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	3093870	204425008	44825613	28	21029											
RHOU	58480	genome.wustl.edu	37	chr1	228879482	228879482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaagtactgctgtttcGtatgatgctggcaagacacc	11	10	12	8	1	0	3	0	1	0	2	1	4	0	4	1	2	3	6	1	2	5	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:228879482G>A	ENST00000366691.3	+	3	1438	c.772G>A	c.(772-774)Gta>Ata	p.V258I		NM_021205.5	NP_067028.1			ras homolog family member U									p.V258L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				CTGCTGTTTCGTATGATGCTG	0.408																																																	1	Substitution - Missense(1)	lung(1)											48	52	51					1																	228879482		2203	4298	6501	SO:0001583	missense	0				CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"Ryu GTPase", "Wnt-1 responsive Cdc42 homolog", "2310026M05Rik", "GTP-binding protein like 1", "CDC42-like GTPase", "GTP-binding protein SB128", "ras-like gene family member U"	606366	"ras homolog gene family, member U"	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.772G>A	1.37:g.228879482G>A	ENSP00000355652:p.Val258Ile			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V258I	ENST00000366691.3	37	c.772	CCDS1575.1	1	.	.	.	.	.	.	.	.	.	.	G	12.67	2.008770	0.35415	.	.	ENSG00000116574	ENST00000366691	T	0.67345	-0.26	4.95	3.03	0.35002	.	0.393509	0.25906	N	0.027531	T	0.40570	0.1122	N	0.24115	0.695	0.21256	N	0.999748	P	0.37525	0.598	B	0.21151	0.033	T	0.42085	-0.9472	10	0.87932	D	0	.	3.5953	0.08003	0.0912:0.1677:0.5679:0.1732	.	258	Q7L0Q8	RHOU_HUMAN	I	258	ENSP00000355652:V258I	ENSP00000355652:V258I	V	+	1	0	RHOU	226946105	1.000000	0.71417	0.619000	0.29118	0.981000	0.71138	3.588000	0.53964	0.646000	0.30693	-0.140000	0.14226	GTA	RHOU	-	NULL	ENSG00000116574		0.408	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOU	HGNC	protein_coding	OTTHUMT00000092555.1		0	16	0	G	NM_021205		228879482	1			no_errors	ENST00000366691	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.811	A	A	228879482	G	A	228879482	3	1	80	1	0	0	0	0	1	0	0	0	13390	1145	40	1	782	1	RHOU	1	228879482	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	24454474	228879482	20371139	29	21030											
LYST	1130	genome.wustl.edu	37	chr1	235896893	235896893	+	Frame_Shift_Del	DEL	T	T	-																															ctctaatatgctggatcaccTtttttctctcatttccttgg																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:235896893delT	ENST00000389794.3	-	34	8885	c.8711delA	c.(8710-8712)aagfs	p.K2904fs	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Frame_Shift_Del_p.K2904fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2904					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGATCACCTTTTTTCTCTC	0.418																																																	0													100	87	91					1																	235896893		2203	4300	6503	SO:0001589	frameshift_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8711delA	1.37:g.235896893delT	ENSP00000374444:p.Lys2904fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Del	DEL	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K2904fs	ENST00000389794.3	37	c.8711	CCDS31062.1	1																																																																																			LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5		0	34	0	T			235896893	-1	tier1		no_errors	ENST00000389793	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	1.000	-	-	235896893	T	-	235896893	7	5	80	1	0	1	0	1	0	0	0	0	9164	1609	56	0	2774	0	LYST	1	235896893	Frame_Shift_Del	DEL	T	TCGA-L5-A8NF-01A-11D-A37C-09	7017411	235896893	13353728	30	21031											
NID1	4811	genome.wustl.edu	37	chr1	236192981	236192981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcgatgccgctgaacCgctgcttaatgaccagattg	9	10	10	12	3	1	3	1	2	0	1	2	4	1	3	3	0	3	4	3	0	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr1:236192981C>T	ENST00000264187.6	-	7	1689	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	NID1_ENST00000366595.3_Missense_Mutation_p.R536Q	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	536	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCCGCTGAACCGCTGCTTAAT	0.602																																																	0													55	45	48					1																	236192981		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1607G>A	1.37:g.236192981C>T	ENSP00000264187:p.Arg536Gln		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.R536Q	ENST00000264187.6	37	c.1607	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123487	0.37436	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.27890	1.64;1.64	5.29	0.374	0.16183	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.482216	0.25810	N	0.028151	T	0.09555	0.0235	N	0.01668	-0.77	0.22354	N	0.99917	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.32587	-0.9901	10	0.21540	T	0.41	.	8.7011	0.34327	0.0:0.3227:0.0:0.6773	.	536;536	P14543-2;P14543	.;NID1_HUMAN	Q	536	ENSP00000264187:R536Q;ENSP00000355554:R536Q	ENSP00000264187:R536Q	R	-	2	0	NID1	234259604	0.991000	0.36638	0.998000	0.56505	0.995000	0.86356	1.544000	0.36158	-0.089000	0.12484	0.563000	0.77884	CGG	NID1	-	pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000116962		0.602	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0	39	0	C	NM_002508		236192981	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	41.67	21	15	SNP	1.000	T	T	236192981	C	T	236192981	3	4	80	1	0	0	0	0	1	0	0	0	10453	652	23	1	2192	1	NID1	1	236192981	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	296088	236192981	13057640	31	21032											
KLF11	8462	genome.wustl.edu	37	chr2	10192515	10192515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctgacgaagcatgccCggcgccacatgacgaccaag	12	3	10	16	4	0	2	0	2	0	0	0	4	0	2	5	1	2	1	5	1	2	0	rs532353853		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:10192515C>T	ENST00000305883.1	+	4	1582	c.1420C>T	c.(1420-1422)Cgg>Tgg	p.R474W	KLF11_ENST00000540845.1_Missense_Mutation_p.R457W|KLF11_ENST00000535335.1_Missense_Mutation_p.R457W|RP11-254F7.3_ENST00000607181.1_RNA	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	474					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GAAGCATGCCCGGCGCCACAT	0.612													C|||	1	0.000199681	0	0	5008	,	,		17683	0.001		0	False		,,,				2504	0				Melanoma(56;431 1507 23687 50789)												0													76	72	73					2																	10192515		2203	4300	6503	SO:0001583	missense	0			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1420C>T	2.37:g.10192515C>T	ENSP00000307023:p.Arg474Trp		B4DZE7|Q9EPF4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R474W	ENST00000305883.1	37	c.1420	CCDS1668.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.522937	0.96431	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.72051	-0.62;-0.62;-0.62	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86477	0.5942	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86801	0.1992	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	474	O14901	KLF11_HUMAN	W	474;457;457	ENSP00000307023:R474W;ENSP00000444690:R457W;ENSP00000442722:R457W	ENSP00000307023:R474W	R	+	1	2	KLF11	10109966	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.792000	0.85828	2.894000	0.99253	0.591000	0.81541	CGG	KLF11	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172059		0.612	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLF11	HGNC	protein_coding	OTTHUMT00000239202.3		0	17	0	C	NM_003597		10192515	1			no_errors	ENST00000305883	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	10192515	C	T	10192515	3	4	80	1	0	0	0	0	1	0	0	0	8366	643	23	1	1434	1	KLF11	2	10192515	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		10192515	233006858	32	21033											
GPN1	11321	genome.wustl.edu	37	chr2	27855528	27855528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttattgagaaggcccagaAcatgtccaagtaagtgatgt	14	11	10	6	0	0	3	0	2	0	2	1	4	1	3	2	1	1	1	2	1	5	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:27855528A>T	ENST00000610189.1	+	5	348	c.341A>T	c.(340-342)aAc>aTc	p.N114I	GPN1_ENST00000515877.1_Missense_Mutation_p.N35I|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000458167.2_Missense_Mutation_p.N19I|GPN1_ENST00000407583.3_Missense_Mutation_p.N102I|GPN1_ENST00000424214.1_Missense_Mutation_p.N35I|GPN1_ENST00000264718.3_Missense_Mutation_p.N128I|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000503738.1_Missense_Mutation_p.N19I|GPN1_ENST00000461249.1_3'UTR	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						AAGGCCCAGAACATGTCCAAG	0.408																																																	0													209	204	206					2																	27855528		2203	4300	6503	SO:0001583	missense	0			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"GPN-loop GTPases"	17030	protein-coding gene	gene with protein product	"RNA polymerase II associated protein 4"	611479	"XPA binding protein 1", "XPA binding protein 1, GTPase"	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.341A>T	2.37:g.27855528A>T	ENSP00000476446:p.Asn114Ile			Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.N128I	ENST00000610189.1	37	c.383		2	.	.	.	.	.	.	.	.	.	.	A	15.63	2.891002	0.52014	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.31	5.31	0.75309	ATPase, AAA+ type, core (1);	0.153219	0.64402	D	0.000014	T	0.29158	0.0725	L	0.42245	1.32	0.40458	D	0.980213	B;P;B;P	0.41673	0.287;0.622;0.257;0.759	B;B;B;P	0.46275	0.296;0.311;0.216;0.51	T	0.03750	-1.1007	10	0.35671	T	0.21	10.3779	12.6267	0.56634	1.0:0.0:0.0:0.0	.	114;128;19;102	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	I	35;19;19;35;102;128	ENSP00000424678:N35I;ENSP00000427269:N19I;ENSP00000412170:N19I;ENSP00000398115:N35I;ENSP00000384255:N102I;ENSP00000264718:N128I	ENSP00000264718:N128I	N	+	2	0	GPN1	27709032	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.683000	0.46943	2.000000	0.58554	0.402000	0.26972	AAC	GPN1	-	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000198522		0.408	GPN1-010	KNOWN	basic|appris_principal	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000473126.1	-	0	69	0	A	NM_007266		27855528	1	tier1	-	no_errors	ENST00000264718	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	27855528	A	T	27855528	3	4	80	1	0	0	0	0	1	0	0	0	6643	43	2	5	484	5	GPN1	2	27855528	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	17663013	27855528	215343845	33	21034											
ALMS1	7840	genome.wustl.edu	37	chr2	73676804	73676804	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagtacagtctagttcttaCccacagagggagaagcctag	12	8	11	10	0	2	2	0	0	2	2	2	3	2	2	2	1	3	3	2	1	5	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:73676804C>T	ENST00000264448.6	+	8	3258	c.3147C>T	c.(3145-3147)taC>taT	p.Y1049Y	ALMS1_ENST00000409009.1_Silent_p.Y1007Y|ALMS1_ENST00000377715.1_Silent_p.Y1049Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1049	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTAGTTCTTACCCACAGAGGG	0.488																																																	0													136	136	136					2																	73676804		1888	4116	6004	SO:0001819	synonymous_variant	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3147C>T	2.37:g.73676804C>T			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.Y1049	ENST00000264448.6	37	c.3147	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	37	0	C	NM_015120		73676804	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.000	T	T	73676804	C	T	73676804	2	4	80	1	0	0	0	0	0	0	0	1	535	518	18	3		3	ALMS1	2	73676804	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	45821276	73676804	169522569	34	21035											
DNAH6	1768	genome.wustl.edu	37	chr2	84940368	84940368	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaccaaaatgccaaatccCcactatctgcctgaggtatg	14	8	6	13	0	1	1	0	1	1	0	2	1	2	1	5	1	3	1	5	1	6	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:84940368C>G	ENST00000237449.6	+	56	9536	c.9528C>G	c.(9526-9528)ccC>ccG	p.P3176P	DNAH6_ENST00000389394.3_Silent_p.P3176P			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3176	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGCCAAATCCCCACTATCTGC	0.423																																																	0													122	101	107					2																	84940368		692	1591	2283	SO:0001819	synonymous_variant	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9528C>G	2.37:g.84940368C>G			A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P3176	ENST00000237449.6	37	c.9528	CCDS46348.1	2																																																																																			DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.423	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	79	0	C	NM_001370		84940368	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.935	G	G	84940368	C	G	84940368	2	3	80	1	0	0	0	0	0	0	0	1	4619	610	22	5		5	DNAH6	2	84940368	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	11263564	84940368	158259005	35	21036											
SNRNP200	23020	genome.wustl.edu	37	chr2	96943977	96943977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgctgtcctcacctGcctcaggagattgtcttcat	7	13	9	12	0	5	1	3	0	2	1	6	3	6	1	3	1	2	1	3	1	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:96943977G>T	ENST00000323853.5	-	39	5685	c.5608C>A	c.(5608-5610)Cag>Aag	p.Q1870K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1870	SEC63 2.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTCCTCACCTGCCTCAGGAGA	0.552																																																	0													175	146	156					2																	96943977		2203	4300	6503	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.5608C>A	2.37:g.96943977G>T	ENSP00000317123:p.Gln1870Lys		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1870K	ENST00000323853.5	37	c.5608	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439375	0.43326	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.56444	0.46	5.24	5.24	0.73138	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	L	0.31294	0.92	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15378	-1.0439	10	0.22706	T	0.39	-20.3744	16.7058	0.85371	0.0:0.0:1.0:0.0	.	1870	O75643	U520_HUMAN	K	1870;329;453	ENSP00000317123:Q1870K	ENSP00000317123:Q1870K	Q	-	1	0	SNRNP200	96307704	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.244000	0.95423	2.884000	0.98904	0.655000	0.94253	CAG	SNRNP200	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000144028		0.552	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2		0	35	0	G	NM_014014		96943977	-1			no_errors	ENST00000323853	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	96943977	G	T	96943977	3	4	80	1	0	0	0	0	1	0	0	0	14897	1328	46	3	830	3	SNRNP200	2	96943977	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	12003609	96943977	146255396	36	21037											
REV1	51455	genome.wustl.edu	37	chr2	100021024	100021024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaattcctgtattacaGccatttactggttctttctt	9	17	6	9	0	2	0	0	0	2	0	3	0	3	0	2	2	3	3	2	2	5	8			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:100021024G>A	ENST00000258428.3	-	18	3156	c.2928C>T	c.(2926-2928)ggC>ggT	p.G976G	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000393445.3_Silent_p.G975G|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	976					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.G976G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTATTACAGCCATTTACTG	0.448								Direct reversal of damage																																									1	Substitution - coding silent(1)	large_intestine(1)											200	186	191					2																	100021024		2203	4300	6503	SO:0001819	synonymous_variant	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"DNA polymerases"	14060	protein-coding gene	gene with protein product		606134	"REV1 (yeast homolog)- like", "REV1-like (yeast)", "REV1 homolog (S. cerevisiae)"	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2928C>T	2.37:g.100021024G>A			O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.G976	ENST00000258428.3	37	c.2928	CCDS2045.1	2																																																																																			REV1	-	pirsf_REV1	ENSG00000135945		0.448	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2		0	75	0	G	NM_016316		100021024	-1			no_errors	ENST00000258428	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.988	A	A	100021024	G	A	100021024	2	1	80	1	0	0	0	0	0	0	0	1	13284	958	34	3		3	REV1	2	100021024	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	3077047	100021024	143178349	37	21038											
STEAP3	55240	genome.wustl.edu	37	chr2	120003167	120003167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgatgaggcccccaaagtggGcatcctgggtagcggggact	8	6	16	11	2	0	1	0	1	0	0	1	3	1	2	3	5	1	2	3	5	2	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:120003167G>A	ENST00000354888.5	+	3	599	c.95G>A	c.(94-96)gGc>gAc	p.G32D	STEAP3_ENST00000393110.2_Missense_Mutation_p.G42D|STEAP3_ENST00000450943.2_Missense_Mutation_p.G32D|STEAP3_ENST00000425223.2_Missense_Mutation_p.G32D|STEAP3_ENST00000393106.2_Missense_Mutation_p.G32D|STEAP3_ENST00000393108.2_Missense_Mutation_p.G32D|STEAP3_ENST00000393107.2_Missense_Mutation_p.G32D|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000409811.1_Missense_Mutation_p.G32D	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	32				G -> S (in Ref. 3; AAL78206/AAM08128 and 6; AAM45136). {ECO:0000305}.	apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CCCAAAGTGGGCATCCTGGGT	0.622																																																	0													36	38	38					2																	120003167		2203	4300	6503	SO:0001583	missense	0			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.95G>A	2.37:g.120003167G>A	ENSP00000346961:p.Gly32Asp		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.G42D	ENST00000354888.5	37	c.125	CCDS2125.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.394507	0.83011	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45;0.45;0.45;0.45	4.96	4.96	0.65561	NAD(P)-binding domain (1);	0.127367	0.52532	D	0.000062	T	0.81123	0.4757	H	0.95679	3.705	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86981	0.2104	9	.	.	.	-35.5872	17.3712	0.87379	0.0:0.0:1.0:0.0	.	32;42;32	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	D	32;32;32;42;32;32;32;32	ENSP00000376820:G32D;ENSP00000346961:G32D;ENSP00000396873:G32D;ENSP00000376822:G42D;ENSP00000376818:G32D;ENSP00000386510:G32D;ENSP00000376819:G32D;ENSP00000396214:G32D	.	G	+	2	0	STEAP3	119719637	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.026000	0.70873	2.576000	0.86940	0.655000	0.94253	GGC	STEAP3	-	NULL	ENSG00000115107		0.622	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP3	HGNC	protein_coding	OTTHUMT00000254193.1	-	0	52	0	G	NM_018234		120003167	1	tier1	-	no_errors	ENST00000393110	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	120003167	G	A	120003167	3	1	80	1	0	0	0	0	1	0	0	0	15326	1203	42	3	131	3	STEAP3	2	120003167	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	19982143	120003167	123196206	38	21039											
LCT	3938	genome.wustl.edu	37	chr2	136547232	136547232	+	Frame_Shift_Del	DEL	G	G	-																															tagaacttcgctgatgctttGgggatccttggcagagaagg																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:136547232delG	ENST00000264162.2	-	16	5482	c.5472delC	c.(5470-5472)cccfs	p.P1824fs		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1824	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CTGATGCTTTGGGGATCCTTG	0.532																																																	0													120	115	117					2																	136547232		2203	4300	6503	SO:0001589	frameshift_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5472delC	2.37:g.136547232delG	ENSP00000264162:p.Pro1824fs		Q4ZG58	Frame_Shift_Del	DEL	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.A1826fs	ENST00000264162.2	37	c.5472	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.532	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1		0	46	0	G	NM_002299		136547232	-1	tier1		no_errors	ENST00000264162	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	1.000	-	-	136547232	G	-	136547232	7	5	80	1	0	1	0	1	0	0	0	0	8721	1335	47	0	319	0	LCT	2	136547232	Frame_Shift_Del	DEL	G	TCGA-L5-A8NF-01A-11D-A37C-09	16544065	136547232	106652141	39	21040											
MCM6	4175	genome.wustl.edu	37	chr2	136614333	136614333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaaggataaagaagagatCgaatcgggacatgatgggag	17	5	14	5	2	0	3	0	1	0	2	2	8	0	6	0	3	0	0	0	3	5	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:136614333C>T	ENST00000264156.2	-	11	1651	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	531	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)	p.D531N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AAGAAGAGATCGAATCGGGAC	0.408																																					Ovarian(196;141 2104 8848 24991 25939)												1	Substitution - Missense(1)	large_intestine(1)											134	130	132					2																	136614333		2203	4300	6503	SO:0001583	missense	0				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1591G>A	2.37:g.136614333C>T	ENSP00000264156:p.Asp531Asn		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase	p.D531N	ENST00000264156.2	37	c.1591	CCDS2179.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.452722	0.96223	.	.	ENSG00000076003	ENST00000264156	T	0.18174	2.23	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82808	-0.0274	10	0.87932	D	0	-24.4756	19.9601	0.97247	0.0:1.0:0.0:0.0	.	531	Q14566	MCM6_HUMAN	N	531	ENSP00000264156:D531N	ENSP00000264156:D531N	D	-	1	0	MCM6	136330803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.683000	0.84093	2.720000	0.93068	0.655000	0.94253	GAT	MCM6	-	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	ENSG00000076003		0.408	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1		0	62	0	C	NM_005915		136614333	-1			no_errors	ENST00000264156	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	136614333	C	T	136614333	3	4	80	1	0	0	0	0	1	0	0	0	9429	884	31	1	902	1	MCM6	2	136614333	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	67101	136614333	106585040	40	21041											
FIGN	55137	genome.wustl.edu	37	chr2	164467538	164467538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacgctgaaggcggaggCggtgcccccccagggctgta	7	5	17	12	3	0	1	0	1	0	0	0	2	0	2	3	6	2	4	3	6	3	2	rs202236615		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:164467538C>T	ENST00000333129.3	-	3	1118	c.804G>A	c.(802-804)ccG>ccA	p.P268P	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	268	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AAGGCGGAGGCGGTGCCCCCC	0.602																																																	0								C		1,4027		0,1,2013	35	39	38		804	-2.5	0.9	2		38	1,8319		0,1,4159	no	coding-synonymous	FIGN	NM_018086.2		0,2,6172	TT,TC,CC		0.012,0.0248,0.0162		268/760	164467538	2,12346	2014	4160	6174	SO:0001819	synonymous_variant	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.804G>A	2.37:g.164467538C>T			B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P268	ENST00000333129.3	37	c.804	CCDS2221.2	2																																																																																			FIGN	-	NULL	ENSG00000182263		0.602	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	20	0	C	NM_018086		164467538	-1	tier1	rs202236615	no_errors	ENST00000333129	ensembl	human	known	74_37	silent	40.54	22	15	SNP	0.948	T	T	164467538	C	T	164467538	2	4	80	1	0	0	0	0	0	0	0	1	5913	755	27	1		1	FIGN	2	164467538	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	27853205	164467538	78731835	41	21042											
SCN1A	6323	genome.wustl.edu	37	chr2	166848274	166848274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtggcagattgagaggCggttcaagcgcagctgcaaa	10	8	16	7	2	1	2	1	1	0	2	1	3	1	2	0	4	3	6	0	4	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:166848274C>T	ENST00000303395.4	-	26	5510	c.5511G>A	c.(5509-5511)ccG>ccA	p.P1837P	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.P1809P|SCN1A_ENST00000423058.2_Silent_p.P1837P|SCN1A_ENST00000375405.3_Silent_p.P1826P|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1837					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATTGAGAGGCGGTTCAAGCG	0.443																																																	0													96	99	98					2																	166848274		2203	4300	6503	SO:0001819	synonymous_variant	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5511G>A	2.37:g.166848274C>T			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.P1837	ENST00000303395.4	37	c.5511	CCDS54413.1	2																																																																																			SCN1A	-	NULL	ENSG00000144285		0.443	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0	51	0	C	NM_006920		166848274	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	silent	57.14	21	28	SNP	0.075	T	T	166848274	C	T	166848274	2	4	80	1	0	0	0	0	0	0	0	1	13959	755	27	1		1	SCN1A	2	166848274	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2380736	166848274	76351099	42	21043											
XIRP2	129446	genome.wustl.edu	37	chr2	168103321	168103321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtactgttagtgaaactGacatcatccctggagatgtg	12	11	10	8	1	1	3	1	2	0	1	2	4	2	3	1	1	3	2	1	1	4	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:168103321G>T	ENST00000409195.1	+	9	5508	c.5419G>T	c.(5419-5421)Gac>Tac	p.D1807Y	XIRP2_ENST00000409273.1_Missense_Mutation_p.D1585Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1807Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1632					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGTGAAACTGACATCATCCC	0.393																																																	0													171	159	163					2																	168103321		1932	4143	6075	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5419G>T	2.37:g.168103321G>T	ENSP00000386840:p.Asp1807Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.D1807Y	ENST00000409195.1	37	c.5419	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450934	0.63290	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.05139	3.5;3.5;3.49	5.59	5.59	0.84812	.	0.046814	0.85682	D	0.000000	T	0.28366	0.0701	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.962;0.983;1.0	T	0.00684	-1.1611	10	0.87932	D	0	-17.4855	18.3707	0.90406	0.0:0.0:1.0:0.0	.	1632;1632;1585	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1807;1807;1585	ENSP00000386840:D1807Y;ENSP00000295237:D1807Y;ENSP00000387255:D1585Y	ENSP00000295237:D1807Y	D	+	1	0	XIRP2	167811567	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	6.176000	0.71955	2.642000	0.89623	0.650000	0.86243	GAC	XIRP2	-	NULL	ENSG00000163092		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	24	0	G	NM_152381		168103321	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T	T	168103321	G	T	168103321	3	4	80	1	0	0	0	0	1	0	0	0	17479	1290	45	3	5449	3	XIRP2	2	168103321	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	1255047	168103321	75096052	43	21044											
TTC30B	150737	genome.wustl.edu	37	chr2	178417117	178417117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccctggcagatcgccctcGctgtacttgatagcagcttg	7	10	11	13	2	0	2	0	1	0	1	2	3	0	2	2	1	3	5	2	1	2	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:178417117G>T	ENST00000408939.3	-	1	625	c.375C>A	c.(373-375)agC>agA	p.S125R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	125					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.S125R(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GATCGCCCTCGCTGTACTTGA	0.632																																																	1	Substitution - Missense(1)	lung(1)											108	121	117					2																	178417117		2202	4299	6501	SO:0001583	missense	0			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"Tetratricopeptide (TTC) repeat domain containing", "Intraflagellar transport homologs"	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.375C>A	2.37:g.178417117G>T	ENSP00000386181:p.Ser125Arg		Q63HQ1|Q96NE6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.S125R	ENST00000408939.3	37	c.375	CCDS42784.1	2	.	.	.	.	.	.	.	.	.	.	G	3.934	-0.015544	0.07681	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.77358	-1.09	4.3	-4.53	0.03462	.	0.179890	0.64402	D	0.000016	T	0.49592	0.1566	N	0.08118	0	0.29488	N	0.855876	B	0.10296	0.003	B	0.09377	0.004	T	0.35301	-0.9794	10	0.21014	T	0.42	.	9.2828	0.37737	0.5333:0.1049:0.3617:0.0	.	125	Q8N4P2	TT30B_HUMAN	R	78;125	ENSP00000386181:S125R	ENSP00000386181:S125R	S	-	3	2	TTC30B	178125363	0.012000	0.17670	0.920000	0.36463	0.917000	0.54804	-1.784000	0.01769	-0.993000	0.03467	-0.940000	0.02684	AGC	TTC30B	-	NULL	ENSG00000196659		0.632	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	-	0	43	0	G	NM_152517		178417117	-1	tier1	-	no_errors	ENST00000408939	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.397	T	T	178417117	G	T	178417117	3	4	80	1	0	0	0	0	1	0	0	0	16748	1078	38	2	1626	2	TTC30B	2	178417117	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	10313796	178417117	64782256	44	21045											
TTN	7273	genome.wustl.edu	37	chr2	179398419	179398419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccttgtctgactcaaatGtgtacttcttgtcattgtca	8	16	7	10	0	5	1	3	1	2	0	5	2	5	1	1	0	1	1	1	0	2	5	rs528711725		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:179398419G>T	ENST00000591111.1	-	308	98224	c.98000C>A	c.(97999-98001)aCa>aAa	p.T32667K	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25435K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31740K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34308K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25368K|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25243K|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589391.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32667	Ig-like 144.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTCAAATGTGTACTTCTT	0.403																																																	0													158	143	148					2																	179398419		1941	4152	6093	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98000C>A	2.37:g.179398419G>T	ENSP00000465570:p.Thr32667Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T31740K	ENST00000591111.1	37	c.95219		2	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745750	0.49151	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.6	0.703	0.18116	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44095	0.1277	N	0.05351	-0.065	0.38404	D	0.945737	B;B;B;B	0.21905	0.062;0.062;0.062;0.062	B;B;B;B	0.33196	0.159;0.159;0.159;0.159	T	0.40961	-0.9535	9	0.87932	D	0	.	10.7085	0.45969	0.3174:0.0:0.6826:0.0	.	25243;25368;25435;32667	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31740;25243;25435;25368;25240	ENSP00000343764:T31740K;ENSP00000434586:T25243K;ENSP00000340554:T25435K;ENSP00000352154:T25368K	ENSP00000340554:T25435K	T	-	2	0	TTN	179106665	1.000000	0.71417	0.879000	0.34478	0.277000	0.26821	3.557000	0.53741	0.067000	0.16545	-1.430000	0.01095	ACA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	49	0	G	NM_133378		179398419	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.920	T	T	179398419	G	T	179398419	3	4	80	1	0	0	0	0	1	0	0	0	16784	1377	48	3	5076	3	TTN	2	179398419	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	981302	179398419	63800954	45	21046											
ITGAV	3685	genome.wustl.edu	37	chr2	187529245	187529245	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaaagaagatctatattggGgatgacaaccctctgacatt	15	10	8	8	0	2	4	0	2	2	2	2	5	2	5	1	2	1	0	1	2	6	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:187529245G>T	ENST00000261023.3	+	20	2224	c.1950G>T	c.(1948-1950)ggG>ggT	p.G650G	ITGAV_ENST00000433736.2_Silent_p.G604G|ITGAV_ENST00000374907.3_Silent_p.G614G|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	650					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TCTATATTGGGGATGACAACC	0.403																																					Melanoma(58;108 1995 6081)												0													145	139	141					2																	187529245		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1950G>T	2.37:g.187529245G>T			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G650	ENST00000261023.3	37	c.1950	CCDS2292.1	2																																																																																			ITGAV	-	pfam_Integrin_alpha-2	ENSG00000138448		0.403	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	-	0	49	0	G	NM_002210		187529245	1	tier1	-	no_errors	ENST00000261023	ensembl	human	known	74_37	silent	6.78	54	4	SNP	0.997	T	T	187529245	G	T	187529245	2	4	80	1	0	0	0	0	0	0	0	1	7915	1219	43	3		3	ITGAV	2	187529245	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	8130826	187529245	55670128	46	21047											
CRYGB	1419	genome.wustl.edu	37	chr2	209007444	209007444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaacctcctgtactcccccGgcctcagcagatactgcctc	8	8	7	18	1	1	1	1	0	0	1	4	2	3	1	6	1	5	2	6	1	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:209007444G>A	ENST00000260988.4	-	3	493	c.446C>T	c.(445-447)cCg>cTg	p.P149L		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	149	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTACTCCCCCGGCCTCAGCAG	0.517																																																	0													87	89	88					2																	209007444		2203	4300	6503	SO:0001583	missense	0				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"crystallin, gamma 1-2"	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.446C>T	2.37:g.209007444G>A	ENSP00000260988:p.Pro149Leu		Q17RB5|Q53ST2	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	p.P149L	ENST00000260988.4	37	c.446	CCDS2380.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135962	0.77662	.	.	ENSG00000182187	ENST00000260988	T	0.76968	-1.06	4.73	4.73	0.59995	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.050684	0.85682	D	0.000000	D	0.91968	0.7456	H	0.97214	3.96	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.94359	0.7586	10	0.72032	D	0.01	.	15.5827	0.76459	0.0:0.0:1.0:0.0	.	149	P07316	CRGB_HUMAN	L	149	ENSP00000260988:P149L	ENSP00000260988:P149L	P	-	2	0	CRYGB	208715689	1.000000	0.71417	0.957000	0.39632	0.988000	0.76386	6.041000	0.70988	2.614000	0.88457	0.561000	0.74099	CCG	CRYGB	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000182187		0.517	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGB	HGNC	protein_coding	OTTHUMT00000256473.2	-	0	55	0	G	NM_005210		209007444	-1	tier1	-	no_errors	ENST00000260988	ensembl	human	known	74_37	missense	34.38	42	22	SNP	0.996	A	A	209007444	G	A	209007444	3	1	80	1	0	0	0	0	1	0	0	0	3922	1116	39	1	85	1	CRYGB	2	209007444	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	21478199	209007444	34191929	47	21048											
ABCA12	26154	genome.wustl.edu	37	chr2	215855534	215855534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgatcagagctgcaatgttGgtgttgttgaagaagacact	11	11	12	7	1	1	4	1	1	0	3	1	5	1	4	1	1	2	5	1	1	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:215855534G>T	ENST00000272895.7	-	24	3735	c.3516C>A	c.(3514-3516)acC>acA	p.T1172T	ABCA12_ENST00000389661.4_Silent_p.T854T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1172					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.T1172T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGCAATGTTGGTGTTGTTGA	0.393																																					Ovarian(66;664 1488 5121 34295)												1	Substitution - coding silent(1)	lung(1)											108	100	103					2																	215855534		2203	4300	6503	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3516C>A	2.37:g.215855534G>T			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1172	ENST00000272895.7	37	c.3516	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	51	0	G	NM_173076		215855534	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	215855534	G	T	215855534	2	4	80	1	0	0	0	0	0	0	0	1	30	1335	47	3		3	ABCA12	2	215855534	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6848090	215855534	27343839	48	21049											
ABCA12	26154	genome.wustl.edu	37	chr2	215928909	215928909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgcaggaatggaaagaatCcagtactaggaaggtttcga	14	9	12	6	1	1	1	0	0	1	1	3	5	2	4	1	4	2	3	1	4	6	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:215928909C>T	ENST00000272895.7	-	3	416	c.197G>A	c.(196-198)gGa>gAa	p.G66E		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	66					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGGAAAGAATCCAGTACTAGG	0.418																																					Ovarian(66;664 1488 5121 34295)												0													172	162	166					2																	215928909		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.197G>A	2.37:g.215928909C>T	ENSP00000272895:p.Gly66Glu		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G66E	ENST00000272895.7	37	c.197	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401436	0.83120	.	.	ENSG00000144452	ENST00000272895	D	0.99881	-7.47	5.79	5.79	0.91817	.	0.387292	0.24965	N	0.034190	D	0.99885	0.9945	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.96501	0.9371	10	0.87932	D	0	.	16.9585	0.86266	0.0:1.0:0.0:0.0	.	66	Q86UK0	ABCAC_HUMAN	E	66	ENSP00000272895:G66E	ENSP00000272895:G66E	G	-	2	0	ABCA12	215637154	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	4.681000	0.61663	2.736000	0.93811	0.655000	0.94253	GGA	ABCA12	-	NULL	ENSG00000144452		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	44	0	C	NM_173076		215928909	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	215928909	C	T	215928909	3	4	80	1	0	0	0	0	1	0	0	0	30	855	30	3	7825	3	ABCA12	2	215928909	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	73375	215928909	27270464	49	21050											
WDFY1	57590	genome.wustl.edu	37	chr2	224759012	224759012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgaggaacaggagacgAgctgcctggtgagctgaagg	10	5	17	9	3	0	3	0	2	0	1	1	7	1	4	2	4	4	2	2	4	2	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:224759012A>G	ENST00000233055.4	-	8	872	c.770T>C	c.(769-771)cTc>cCc	p.L257P		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	257						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACAGGAGACGAGCTGCCTGGT	0.542																																																	0													173	127	143					2																	224759012		2203	4300	6503	SO:0001583	missense	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20451	protein-coding gene	gene with protein product			"WD40 and FYVE domain containing 1"			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.770T>C	2.37:g.224759012A>G	ENSP00000233055:p.Leu257Pro		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L257P	ENST00000233055.4	37	c.770	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514283	0.85389	.	.	ENSG00000085449	ENST00000233055;ENST00000429915	T;T	0.55052	0.86;0.54	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83046	0.5169	H	0.97918	4.105	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.89556	0.3803	10	0.87932	D	0	-20.9839	16.026	0.80545	1.0:0.0:0.0:0.0	.	257	Q8IWB7	WDFY1_HUMAN	P	257;214	ENSP00000233055:L257P;ENSP00000395416:L214P	ENSP00000233055:L257P	L	-	2	0	WDFY1	224467256	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	8.582000	0.90791	2.191000	0.70037	0.533000	0.62120	CTC	WDFY1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085449		0.542	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1		0	52	0	A	NM_020830		224759012	-1			no_errors	ENST00000233055	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.999	G	G	224759012	A	G	224759012	3	3	80	1	0	0	0	0	1	0	0	0	17317	304	11	4	482	4	WDFY1	2	224759012	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	8830103	224759012	18440361	50	21051											
DOCK10	55619	genome.wustl.edu	37	chr2	225657770	225657770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagggatgctgtgcaaatCttttccactttccagtaacc	10	12	8	11	0	1	0	0	0	1	0	3	1	3	1	3	1	4	4	3	1	2	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:225657770C>G	ENST00000258390.7	-	47	5299	c.5232G>C	c.(5230-5232)aaG>aaC	p.K1744N	DOCK10_ENST00000409592.3_Missense_Mutation_p.K1738N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1744	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGTGCAAATCTTTTCCACTT	0.438																																																	0													200	185	190					2																	225657770		1864	4095	5959	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5232G>C	2.37:g.225657770C>G	ENSP00000258390:p.Lys1744Asn		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K1744N	ENST00000258390.7	37	c.5232	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342799	0.41498	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19394	3.45;2.15	5.6	5.6	0.85130	.	0.204155	0.50627	D	0.000102	T	0.15609	0.0376	N	0.19112	0.55	0.45172	D	0.998181	B;B;B	0.12630	0.006;0.0;0.001	B;B;B	0.09377	0.004;0.001;0.0	T	0.03673	-1.1014	10	0.40728	T	0.16	.	15.1368	0.72572	0.0:0.8591:0.1409:0.0	.	1744;1738;406	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	N	1738;1744	ENSP00000386694:K1738N;ENSP00000258390:K1744N	ENSP00000258390:K1744N	K	-	3	2	DOCK10	225366014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.903000	0.48711	2.634000	0.89283	0.557000	0.71058	AAG	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.438	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0	37	0	C			225657770	-1			no_errors	ENST00000258390	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	G	G	225657770	C	G	225657770	3	3	80	1	0	0	0	0	1	0	0	0	4699	912	32	5	1368	5	DOCK10	2	225657770	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	898758	225657770	17541603	51	21052											
FARP2	9855	genome.wustl.edu	37	chr2	242343285	242343285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgacacaagtgtggaagCgtttaaacctggtagaatgt	13	11	11	6	1	0	2	0	1	0	1	0	3	0	3	1	2	3	2	1	2	7	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:242343285C>T	ENST00000264042.3	+	3	396	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	FARP2_ENST00000373287.4_Missense_Mutation_p.R76C|FARP2_ENST00000545004.1_Missense_Mutation_p.R76C	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	76	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AGTGTGGAAGCGTTTAAACCT	0.458																																																	0													134	122	126					2																	242343285		2203	4300	6503	SO:0001583	missense	0			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.226C>T	2.37:g.242343285C>T	ENSP00000264042:p.Arg76Cys		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R76C	ENST00000264042.3	37	c.226	CCDS33424.1	2	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507607	0.27036	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000418082;ENST00000445489	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.62	4.62	0.57501	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.487197	0.21559	N	0.072603	D	0.84257	0.5432	L	0.56280	1.765	0.18873	N	0.999985	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.65874	0.9;0.866;0.939	T	0.77205	-0.2673	10	0.87932	D	0	.	14.7732	0.69696	0.0:1.0:0.0:0.0	.	76;76;76	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	C	76	ENSP00000264042:R76C;ENSP00000443876:R76C;ENSP00000362384:R76C;ENSP00000393376:R76C;ENSP00000388167:R76C	ENSP00000264042:R76C	R	+	1	0	FARP2	241991958	0.309000	0.24518	0.023000	0.16930	0.101000	0.19017	5.559000	0.67326	2.279000	0.76181	0.557000	0.71058	CGT	FARP2	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000006607		0.458	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1		0	39	0	C			242343285	1			no_errors	ENST00000264042	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.060	T	T	242343285	C	T	242343285	3	4	80	1	0	0	0	0	1	0	0	0	5699	768	27	1	232	1	FARP2	2	242343285	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	16685515	242343285	856088	52	21053											
NEU4	129807	genome.wustl.edu	37	chr2	242758151	242758151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggacagagccctgggTgatctacgagggccccagcg	8	5	15	13	2	1	2	0	1	1	1	1	4	1	3	3	3	4	1	3	3	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr2:242758151T>C	ENST00000391969.2	+	5	1943	c.1232T>C	c.(1231-1233)gTg>gCg	p.V411A	NEU4_ENST00000407683.1_Missense_Mutation_p.V411A|NEU4_ENST00000404257.1_Missense_Mutation_p.V423A|NEU4_ENST00000325935.6_Missense_Mutation_p.V424A|NEU4_ENST00000405370.1_Missense_Mutation_p.V411A	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	411					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GAGCCCTGGGTGATCTACGAG	0.697																																																	0													10	12	12					2																	242758151		2184	4269	6453	SO:0001583	missense	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.1232T>C	2.37:g.242758151T>C	ENSP00000375830:p.Val411Ala		A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Sialidases	p.V424A	ENST00000391969.2	37	c.1271	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	T	20.1	3.931522	0.73442	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000404257;ENST00000391969;ENST00000325935	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	4.24	3.04	0.35103	Neuraminidase (2);	0.205916	0.41938	D	0.000785	D	0.87767	0.6260	M	0.75085	2.285	0.30117	N	0.806006	P;D;D	0.55385	0.952;0.971;0.962	P;P;P	0.53224	0.53;0.721;0.687	D	0.84752	0.0757	10	0.87932	D	0	-13.8371	9.7176	0.40284	0.0:0.0851:0.0:0.9149	.	423;423;411	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	A	411;411;421;423;411;424	ENSP00000385402:V411A;ENSP00000384804:V411A;ENSP00000385149:V423A;ENSP00000375830:V411A;ENSP00000320318:V424A	ENSP00000320318:V424A	V	+	2	0	NEU4	242406824	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	4.384000	0.59607	0.471000	0.27319	0.330000	0.21533	GTG	NEU4	-	superfamily_Sialidases	ENSG00000204099		0.697	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	-	0	136	0	T	NM_080741		242758151	1	tier1	-	no_errors	ENST00000325935	ensembl	human	known	74_37	missense	18.85	99	23	SNP	1.000	C	C	242758151	T	C	242758151	3	2	80	1	0	0	0	0	1	0	0	0	10383	1696	59	4	1285	4	NEU4	2	242758151	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	414866	242758151	441222	53	21054											
CRBN	51185	genome.wustl.edu	37	chr3	3192657	3192657	+	Frame_Shift_Del	DEL	T	T	-																															aatttttgaggtgacatgtcTtttttggtggccgtaaactt																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:3192657delT	ENST00000231948.4	-	11	1243	c.1221delA	c.(1219-1221)aaafs	p.K407fs	RP11-97C16.1_ENST00000607052.1_RNA|CRBN_ENST00000432408.2_Frame_Shift_Del_p.K406fs	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	407	Thalidomide-binding.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	GTGACATGTCTTTTTTGGTGG	0.423																																																	0													123	99	107					3																	3192657		2203	4300	6503	SO:0001589	frameshift_variant	0			BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"mental retardation, non-syndromic, autosomal recessive, 2A"	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.1221delA	3.37:g.3192657delT	ENSP00000231948:p.Lys407fs		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Frame_Shift_Del	DEL	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N	p.D408fs	ENST00000231948.4	37	c.1221	CCDS2562.1	3																																																																																			CRBN	-	NULL	ENSG00000113851		0.423	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRBN	HGNC	protein_coding	OTTHUMT00000206579.3		0	39	0	T	NM_016302		3192657	-1	tier1		no_errors	ENST00000231948	ensembl	human	known	74_37	frame_shift_del	9.68	28	3	DEL	1.000	-	-	3192657	T	-	3192657	7	5	80	1	0	1	0	1	0	0	0	0	3858	1606	56	0	111	0	CRBN	3	3192657	Frame_Shift_Del	DEL	T	TCGA-L5-A8NF-01A-11D-A37C-09		3192657	194829773	54	21055											
STT3B	201595	genome.wustl.edu	37	chr3	31663635	31663635	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttgctggagtgatggtGcgactgatgttgactttgac	7	15	13	6	1	0	4	0	4	0	0	0	6	0	5	0	2	3	2	0	2	1	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:31663635G>T	ENST00000295770.2	+	10	1583	c.1374G>T	c.(1372-1374)gtG>gtT	p.V458V		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	458					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GAGTGATGGTGCGACTGATGT	0.418																																																	0													280	246	257					3																	31663635		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1374G>T	3.37:g.31663635G>T			Q96JZ4|Q96KY7	Silent	SNP	pfam_Oligo_trans_STT3	p.V458	ENST00000295770.2	37	c.1374	CCDS2650.1	3																																																																																			STT3B	-	pfam_Oligo_trans_STT3	ENSG00000163527		0.418	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0	31	0	G	NM_178862		31663635	1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.995	T	T	31663635	G	T	31663635	2	4	80	1	0	0	0	0	0	0	0	1	15381	1306	46	3		3	STT3B	3	31663635	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	28470978	31663635	166358795	55	21056											
DYNC1LI1	51143	genome.wustl.edu	37	chr3	32578524	32578524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtaaacaaaacttccggaTatgtgactgaataaaatcaa	18	10	6	7	1	1	2	1	2	0	0	2	3	2	3	1	1	2	1	1	1	9	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:32578524T>C	ENST00000273130.4	-	6	914	c.811A>G	c.(811-813)Atc>Gtc	p.I271V	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.I155V	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	271					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						AACTTCCGGATATGTGACTGA	0.259																																																	0													80	76	78					3																	32578524		2202	4288	6490	SO:0001583	missense	0			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"Cytoplasmic dyneins"	18745	protein-coding gene	gene with protein product		615890	"dynein, cytoplasmic, light intermediate polypeptide 1"	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.811A>G	3.37:g.32578524T>C	ENSP00000273130:p.Ile271Val		A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.I271V	ENST00000273130.4	37	c.811	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742445	0.49151	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.21543	2.0;2.0	5.66	5.66	0.87406	.	0.096864	0.64402	D	0.000001	T	0.24122	0.0584	L	0.48642	1.525	0.54753	D	0.999989	B;B	0.30326	0.276;0.053	B;B	0.34873	0.191;0.123	T	0.02450	-1.1157	10	0.33940	T	0.23	-10.1977	15.8884	0.79273	0.0:0.0:0.0:1.0	.	155;271	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	V	271;155	ENSP00000273130:I271V;ENSP00000407279:I155V	ENSP00000273130:I271V	I	-	1	0	DYNC1LI1	32553528	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.259000	0.58828	2.147000	0.66899	0.383000	0.25322	ATC	DYNC1LI1	-	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	ENSG00000144635		0.259	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	-	0	71	0	T	NM_016141		32578524	-1	tier1	-	no_errors	ENST00000273130	ensembl	human	known	74_37	missense	59.32	24	35	SNP	1.000	C	C	32578524	T	C	32578524	3	2	80	1	0	0	0	0	1	0	0	0	4858	1406	49	4	792	4	DYNC1LI1	3	32578524	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	914889	32578524	165443906	56	21057											
WDR48	57599	genome.wustl.edu	37	chr3	39116253	39116253	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgggacaattcgccttTggtcccttggccagcagaga	8	10	12	11	1	0	2	0	1	0	1	2	4	1	3	3	3	1	1	3	3	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:39116253T>C	ENST00000302313.5	+	8	737	c.709T>C	c.(709-711)Tgg>Cgg	p.W237R	WDR48_ENST00000396258.3_Missense_Mutation_p.W155R|WDR48_ENST00000544962.1_Missense_Mutation_p.W29R|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	237					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AATTCGCCTTTGGTCCCTTGG	0.478																																																	0													140	117	125					3																	39116253		2203	4300	6503	SO:0001583	missense	0			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"WD repeat domain containing"	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.709T>C	3.37:g.39116253T>C	ENSP00000307491:p.Trp237Arg		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W237R	ENST00000302313.5	37	c.709	CCDS33738.1	3	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954481	0.92726	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	D;T;D	0.83506	-1.73;1.18;-1.73	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94105	0.8110	H	0.96111	3.77	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;1.0;1.0;1.0	D	0.95790	0.8824	10	0.87932	D	0	-10.5386	16.2644	0.82568	0.0:0.0:0.0:1.0	.	29;155;228;237	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	R	237;29;155	ENSP00000307491:W237R;ENSP00000445187:W29R;ENSP00000379557:W155R	ENSP00000307491:W237R	W	+	1	0	WDR48	39091257	1.000000	0.71417	0.978000	0.43139	0.993000	0.82548	8.040000	0.89188	2.244000	0.73946	0.528000	0.53228	TGG	WDR48	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000114742		0.478	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	-	0	68	0	T	NM_020839		39116253	1	tier1	-	no_errors	ENST00000302313	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	C	C	39116253	T	C	39116253	3	2	80	1	0	0	0	0	1	0	0	0	17350	1812	63	4	739	4	WDR48	3	39116253	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	6537729	39116253	158906177	57	21058											
FYCO1	79443	genome.wustl.edu	37	chr3	46016794	46016794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacctctggtgcaccaagGagtagcgaataaatgctctt	12	9	9	11	1	2	0	0	0	2	0	2	2	2	1	3	2	4	3	3	2	6	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:46016794G>T	ENST00000296137.2	-	5	537	c.332C>A	c.(331-333)tCc>tAc	p.S111Y	FYCO1_ENST00000535325.1_Missense_Mutation_p.S111Y	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	111	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGCACCAAGGAGTAGCGAAT	0.488																																																	0													164	130	142					3																	46016794		2203	4300	6503	SO:0001583	missense	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"Zinc fingers, FYVE domain containing"	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.332C>A	3.37:g.46016794G>T	ENSP00000296137:p.Ser111Tyr		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.S111Y	ENST00000296137.2	37	c.332	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510229	0.85282	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.30448	1.53;1.53	5.69	5.69	0.88448	RUN (2);	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	L	0.29908	0.895	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.43426	-0.9392	10	0.87932	D	0	-19.6544	17.9818	0.89144	0.0:0.0:1.0:0.0	.	111;111	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	Y	111	ENSP00000296137:S111Y;ENSP00000441178:S111Y	ENSP00000296137:S111Y	S	-	2	0	FYCO1	45991798	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	9.352000	0.97076	2.684000	0.91462	0.557000	0.71058	TCC	FYCO1	-	pfam_Run,pfscan_Run	ENSG00000163820		0.488	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2		0	56	0	G	NM_024513		46016794	-1			no_errors	ENST00000535325	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.999	T	T	46016794	G	T	46016794	3	4	80	1	0	0	0	0	1	0	0	0	6149	1174	41	3	4160	3	FYCO1	3	46016794	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6900541	46016794	152005636	58	21059											
PTPN23	25930	genome.wustl.edu	37	chr3	47453615	47453615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccccagcaacttgctgCgcttcatccaggaggtgcac	9	7	10	15	1	1	0	1	0	0	0	2	1	2	1	3	2	6	4	3	2	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:47453615C>T	ENST00000265562.4	+	22	4182	c.4105C>T	c.(4105-4107)Cgc>Tgc	p.R1369C	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1243C	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1369	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.R1369S(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACTTGCTGCGCTTCATCCA	0.637																																																	1	Substitution - Missense(1)	lung(1)											48	46	47					3																	47453615		2202	4300	6502	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4105C>T	3.37:g.47453615C>T	ENSP00000265562:p.Arg1369Cys		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R1369C	ENST00000265562.4	37	c.4105	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	c	15.19	2.761225	0.49468	.	.	ENSG00000076201	ENST00000265562	T	0.14893	2.47	4.43	2.63	0.31362	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.433127	0.21187	N	0.078717	T	0.18130	0.0435	M	0.71581	2.175	0.37828	D	0.928607	B	0.13594	0.008	B	0.12837	0.008	T	0.06215	-1.0839	10	0.72032	D	0.01	-2.7526	5.4511	0.16565	0.1579:0.6679:0.0:0.1742	.	1369	Q9H3S7	PTN23_HUMAN	C	1369	ENSP00000265562:R1369C	ENSP00000265562:R1369C	R	+	1	0	PTPN23	47428619	0.999000	0.42202	0.994000	0.49952	0.683000	0.39861	2.693000	0.47027	0.428000	0.26173	-0.213000	0.12676	CGC	PTPN23	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000076201		0.637	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2		0	26	0	C	NM_015466		47453615	1			no_errors	ENST00000265562	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	T	T	47453615	C	T	47453615	3	4	80	1	0	0	0	0	1	0	0	0	12833	768	27	1	4191	1	PTPN23	3	47453615	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1436821	47453615	150568815	59	21060											
DOCK3	1795	genome.wustl.edu	37	chr3	51349978	51349978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctagaaattatcacCtcagccaaaaggaagaagat	17	8	7	9	0	3	3	3	0	0	3	3	4	3	4	2	1	2	1	2	1	7	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:51349978C>T	ENST00000266037.9	+	30	3188	c.3165C>T	c.(3163-3165)acC>acT	p.T1055T		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1055					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAATTATCACCTCAGCCAAAA	0.383																																																	0													78	69	72					3																	51349978		1827	4081	5908	SO:0001819	synonymous_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3165C>T	3.37:g.51349978C>T			O15017	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.T1055	ENST00000266037.9	37	c.3165	CCDS46835.1	3																																																																																			DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.383	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	54	0	C	NM_004947		51349978	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	silent	18.60	35	8	SNP	0.812	T	T	51349978	C	T	51349978	2	4	80	1	0	0	0	0	0	0	0	1	4702	668	24	3		3	DOCK3	3	51349978	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	3896363	51349978	146672452	60	21061											
GRM2	2912	genome.wustl.edu	37	chr3	51749765	51749765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaccaaccgcattgcacGcatcttcggtggggcccggg	8	6	13	14	4	1	1	0	0	1	1	2	1	1	1	3	4	2	3	3	4	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:51749765G>A	ENST00000395052.3	+	4	2210	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	659					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R659H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCATTGCACGCATCTTCGGT	0.622																																																	1	Substitution - Missense(1)	lung(1)											75	66	69					3																	51749765		2203	4300	6503	SO:0001583	missense	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1976G>A	3.37:g.51749765G>A	ENSP00000378492:p.Arg659His		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R659H	ENST00000395052.3	37	c.1976	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930307	0.92389	.	.	ENSG00000164082	ENST00000395052	D	0.89746	-2.56	5.16	5.16	0.70880	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95988	0.8983	10	0.72032	D	0.01	.	19.0285	0.92944	0.0:0.0:1.0:0.0	.	659	Q14416	GRM2_HUMAN	H	659	ENSP00000378492:R659H	ENSP00000378492:R659H	R	+	2	0	GRM2	51724805	1.000000	0.71417	0.992000	0.48379	0.946000	0.59487	9.855000	0.99526	2.576000	0.86940	0.561000	0.74099	CGC	GRM2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000164082		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1		0	25	0	G			51749765	1			no_errors	ENST00000395052	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	51749765	G	A	51749765	3	1	80	1	0	0	0	0	1	0	0	0	6824	1087	38	1	1986	1	GRM2	3	51749765	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	399787	51749765	146272665	61	21062											
SEMA3G	56920	genome.wustl.edu	37	chr3	52474808	52474808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgtacacctcgaggctcttCccggccttgggccacagcag	6	7	12	16	3	1	0	0	0	1	0	3	1	2	0	4	3	2	3	4	3	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:52474808C>T	ENST00000231721.2	-	9	959	c.960G>A	c.(958-960)ggG>ggA	p.G320G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	320	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGAGGCTCTTCCCGGCCTTGG	0.622																																																	0													63	59	60					3																	52474808		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.960G>A	3.37:g.52474808C>T			Q7L9D9|Q9H7Q3	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.G320	ENST00000231721.2	37	c.960	CCDS2856.1	3																																																																																			SEMA3G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000010319		0.622	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	-	0	33	0	C	NM_020163		52474808	-1	tier1	-	no_errors	ENST00000231721	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.989	T	T	52474808	C	T	52474808	2	4	80	1	0	0	0	0	0	0	0	1	14075	842	30	3		3	SEMA3G	3	52474808	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	725043	52474808	145547622	62	21063											
DNAH12	201625	genome.wustl.edu	37	chr3	57348623	57348623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctcttgcacaagggcatGaaaaaaacaaactccaaaca	18	7	5	11	0	2	1	0	1	2	0	4	1	3	1	1	1	4	2	1	1	6	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:57348623G>A	ENST00000351747.2	-	51	8137	c.7957C>T	c.(7957-7959)Cat>Tat	p.H2653Y	DNAH12_ENST00000344804.4_Intron	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2653	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ACAAGGGCATGAAAAAAACAA	0.363																																																	0													83	66	71					3																	57348623		692	1591	2283	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.7957C>T	3.37:g.57348623G>A	ENSP00000295937:p.His2653Tyr		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.H2653Y	ENST00000351747.2	37	c.7957		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.134103|5.134103	0.94517|0.94517	.|.	.|.	ENSG00000174844|ENSG00000174844	ENST00000351747|ENST00000462199	T|.	0.34072|.	1.38|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Dynein heavy chain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90549|0.90549	0.7038|0.7038	H|H	0.97023|0.97023	3.925|3.925	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.92383|0.92383	0.5915|0.5915	10|5	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2653|.	Q6ZR08|.	DYH12_HUMAN|.	Y|L	2653|343	ENSP00000295937:H2653Y|.	ENSP00000295937:H2653Y|.	H|S	-|-	1|2	0|0	DNAH12|DNAH12	57323663|57323663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.594000|7.594000	0.82698|0.82698	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAT|TCA	DNAH12	-	pfam_Dynein_heavy_dom	ENSG00000174844		0.363	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding			0	39	0	G	NM_178504		57348623	-1			no_errors	ENST00000351747	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A	A	57348623	G	A	57348623	3	1	80	1	0	0	0	0	1	0	0	0	4614	1290	45	3	1357	3	DNAH12	3	57348623	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	4873815	57348623	140673807	63	21064											
DNASE1L3	1776	genome.wustl.edu	37	chr3	58178417	58178417	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgagacccttgggtctaGgagcgtttgctctttgtttt	6	16	12	7	1	2	2	0	1	2	2	2	4	2	3	1	2	2	3	1	2	1	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:58178417G>T	ENST00000394549.2	-	8	1231	c.915C>A	c.(913-915)tcC>tcA	p.S305S	DNASE1L3_ENST00000486455.1_Silent_p.S275S|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000318316.3_Silent_p.S305S	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	305					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CTTGGGTCTAGGAGCGTTTGC	0.403																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)												0													137	139	139					3																	58178417		2203	4300	6503	SO:0001819	synonymous_variant	0			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"DNase gamma"	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.915C>A	3.37:g.58178417G>T			B2R8B1|B7Z707|O75803	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.S305	ENST00000394549.2	37	c.915	CCDS2886.1	3																																																																																			DNASE1L3	-	NULL	ENSG00000163687		0.403	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	HGNC	protein_coding	OTTHUMT00000353533.1		0	39	0	G	NM_004944		58178417	-1			no_errors	ENST00000318316	ensembl	human	known	74_37	silent	10.81	32	4	SNP	0.834	T	T	58178417	G	T	58178417	2	4	80	1	0	0	0	0	0	0	0	1	4677	987	35	3		3	DNASE1L3	3	58178417	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	829794	58178417	139844013	64	21065											
CADPS	8618	genome.wustl.edu	37	chr3	62631400	62631400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaacataacttacgttGgtttagaagcctcggcctga	12	10	11	8	2	0	3	0	1	0	2	1	4	0	3	2	3	4	2	2	3	5	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:62631400G>T	ENST00000383710.4	-	6	1671	c.1322C>A	c.(1321-1323)cCa>cAa	p.P441Q	CADPS_ENST00000357948.3_Missense_Mutation_p.P441Q|CADPS_ENST00000283269.9_Missense_Mutation_p.P441Q|CADPS_ENST00000490353.2_Missense_Mutation_p.P441Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	441	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AACTTACGTTGGTTTAGAAGC	0.463																																																	0													198	188	191					3																	62631400		2203	4300	6503	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1322C>A	3.37:g.62631400G>T	ENSP00000373215:p.Pro441Gln		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P441Q	ENST00000383710.4	37	c.1322	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925524	0.92319	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;T	0.93133	-3.17;-3.17;-3.17;0.31	5.44	5.44	0.79542	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.981	D;D;P	0.83275	0.985;0.996;0.77	D	0.96980	0.9714	10	0.87932	D	0	.	19.6287	0.95691	0.0:0.0:1.0:0.0	.	441;441;441	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	Q	441	ENSP00000373215:P441Q;ENSP00000350632:P441Q;ENSP00000283269:P441Q;ENSP00000418736:P441Q	ENSP00000283269:P441Q	P	-	2	0	CADPS	62606440	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	9.869000	0.99810	2.710000	0.92621	0.655000	0.94253	CCA	CADPS	-	superfamily_C2_dom	ENSG00000163618		0.463	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	-	0	79	0	G	NM_003716, NM_183393, NM_183394		62631400	-1	tier1	-	no_errors	ENST00000383710	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	T	T	62631400	G	T	62631400	3	4	80	1	0	0	0	0	1	0	0	0	2577	1348	47	3	2912	3	CADPS	3	62631400	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	4452983	62631400	135391030	65	21066											
CRYBG3	131544	genome.wustl.edu	37	chr3	97617780	97617780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacctagaaagtgggaaGtttattgacattacaaatca	15	12	8	6	0	2	3	1	2	1	1	2	4	2	4	1	1	1	1	1	1	6	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:97617780G>A	ENST00000182096.4	+	10	1975	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2585							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAAGTGGGAAGTTTATTGACA	0.323																																																	0													79	71	74					3																	97617780		1803	4070	5873	SO:0001819	synonymous_variant	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1911G>A	3.37:g.97617780G>A			B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.K637	ENST00000182096.4	37	c.1911		3																																																																																			CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin	ENSG00000080200		0.323	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	-	0	40	0	G	NM_153605		97617780	1	tier1	-	no_errors	ENST00000182096	ensembl	human	known	74_37	silent	56.86	22	29	SNP	0.998	A	A	97617780	G	A	97617780	2	1	80	1	0	0	0	0	0	0	0	1	3920	1020	36	3		3	CRYBG3	3	97617780	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	34986380	97617780	100404650	66	21067											
KIAA2018	205717	genome.wustl.edu	37	chr3	113378493	113378493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatttgtagttcctgatGaagacatcacaggctgcaaa	12	13	9	7	0	1	4	1	3	0	1	2	4	2	4	1	1	1	4	1	1	3	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:113378493G>T	ENST00000478658.1	-	5	2053	c.2036C>A	c.(2035-2037)tCa>tAa	p.S679*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Nonsense_Mutation_p.S679*			Q68DE3	K2018_HUMAN	KIAA2018	679						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGTTCCTGATGAAGACATCAC	0.413																																																	0													109	104	106					3																	113378493		1866	4107	5973	SO:0001587	stop_gained	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2036C>A	3.37:g.113378493G>T	ENSP00000420721:p.Ser679*		Q7Z3L9|Q8IVF3|Q9H8T4	Nonsense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S679*	ENST00000478658.1	37	c.2036	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	37	5.996819	0.97184	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	.	.	.	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.37	15.2767	0.73748	0.0:0.1405:0.8595:0.0	.	.	.	.	X	679	.	ENSP00000320794:S679X	S	-	2	0	KIAA2018	114861183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.124000	0.77185	2.449000	0.82847	0.650000	0.86243	TCA	KIAA2018	-	NULL	ENSG00000176542		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	43	0	G	NM_001009899		113378493	-1			no_errors	ENST00000316407	ensembl	human	known	74_37	nonsense	5.66	50	3	SNP	1.000	T	T	113378493	G	T	113378493	4	4	80	1	0	0	0	0	0	1	0	0	8295	1294	45	3	4705	3	KIAA2018	3	113378493	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	15760713	113378493	84643937	67	21068											
CD80	941	genome.wustl.edu	37	chr3	119263521	119263521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggatcacaatggagagGttattagtgatatcaaagat	15	10	11	5	0	2	3	2	1	0	2	2	5	2	4	1	3	0	1	1	3	5	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:119263521G>T	ENST00000264246.3	-	3	656	c.294C>A	c.(292-294)aaC>aaA	p.N98K	CD80_ENST00000383668.3_Missense_Mutation_p.N98K|CD80_ENST00000383669.3_Missense_Mutation_p.N98K|CD80_ENST00000478182.1_Missense_Mutation_p.N98K	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	98	Ig-like V-type.				cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	CAATGGAGAGGTTATTAGTGA	0.473																																					Melanoma(132;135 1764 1806 5833 14593)												0													155	147	150					3																	119263521		2203	4300	6503	SO:0001583	missense	0				CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1700	protein-coding gene	gene with protein product	"B-lymphocyte activation antigen B7"	112203	"CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)", "CD80 molecule "	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.294C>A	3.37:g.119263521G>T	ENSP00000264246:p.Asn98Lys		Q5DTA9|Q5DTB0	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom	p.N98K	ENST00000264246.3	37	c.294	CCDS2989.1	3	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270864	0.40194	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.05	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.231506	0.30446	N	0.009614	T	0.79975	0.4539	M	0.87456	2.885	0.36258	D	0.854351	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.994;0.994	D	0.86066	0.1535	10	0.87932	D	0	-20.7216	11.162	0.48520	0.0:0.186:0.814:0.0	.	98;98;98;98	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	K	98	ENSP00000264246:N98K;ENSP00000418364:N98K;ENSP00000373165:N98K;ENSP00000373164:N98K	ENSP00000264246:N98K	N	-	3	2	CD80	120746211	1.000000	0.71417	0.639000	0.29394	0.090000	0.18270	1.650000	0.37292	1.307000	0.44944	0.650000	0.86243	AAC	CD80	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000121594		0.473	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD80	HGNC	protein_coding	OTTHUMT00000355196.1	-	0	38	0	G	NM_005191		119263521	-1	tier1	-	no_errors	ENST00000264246	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.929	T	T	119263521	G	T	119263521	3	4	80	1	0	0	0	0	1	0	0	0	3045	1252	44	3	588	3	CD80	3	119263521	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5885028	119263521	78758909	68	21069											
POLQ	10721	genome.wustl.edu	37	chr3	121178982	121178982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgctcctgaaaacatcaGctccagtgtttaacacttga	13	11	6	11	0	1	2	1	2	0	0	3	2	3	2	2	0	4	3	2	0	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:121178982G>A	ENST00000264233.5	-	25	7195	c.7067C>T	c.(7066-7068)gCt>gTt	p.A2356V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2356					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GAAAACATCAGCTCCAGTGTT	0.468								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													149	132	137					3																	121178982		2203	4300	6503	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7067C>T	3.37:g.121178982G>A	ENSP00000264233:p.Ala2356Val		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.A2356V	ENST00000264233.5	37	c.7067	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833067	0.71258	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	D	0.96992	-4.2	5.6	3.76	0.43208	DNA-directed DNA polymerase, family A, palm domain (2);	0.122829	0.56097	N	0.000034	D	0.92681	0.7674	L	0.31752	0.955	0.33521	D	0.592384	B;P	0.42692	0.203;0.787	B;B	0.42343	0.105;0.384	D	0.93091	0.6500	10	0.54805	T	0.06	.	10.45	0.44516	0.0696:0.0:0.788:0.1423	.	2356;1528	O75417;O75417-2	DPOLQ_HUMAN;.	V	1979;2356;2492	ENSP00000264233:A2356V	ENSP00000264233:A2356V	A	-	2	0	POLQ	122661672	0.914000	0.31030	0.981000	0.43875	0.962000	0.63368	4.105000	0.57797	0.664000	0.31047	0.591000	0.81541	GCT	POLQ	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom	ENSG00000051341		0.468	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	34	0	G	NM_199420		121178982	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	43.33	17	13	SNP	0.993	A	A	121178982	G	A	121178982	3	1	80	1	0	0	0	0	1	0	0	0	12247	971	34	3	729	3	POLQ	3	121178982	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	1915461	121178982	76843448	69	21070											
GOLGB1	2804	genome.wustl.edu	37	chr3	121410616	121410616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagttctgcatctagcttgGcattctcagaattgagatca	10	14	8	9	0	5	2	3	1	3	2	6	3	5	2	0	1	2	4	0	1	2	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:121410616G>A	ENST00000340645.5	-	14	7705	c.7580C>T	c.(7579-7581)gCc>gTc	p.A2527V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A2532V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2527					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCTAGCTTGGCATTCTCAGA	0.398																																																	0													159	165	163					3																	121410616		2203	4300	6503	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.7580C>T	3.37:g.121410616G>A	ENSP00000341848:p.Ala2527Val		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.A2527V	ENST00000340645.5	37	c.7580	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176818	0.57692	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.61040	0.14;0.14	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000008	T	0.76328	0.3972	M	0.78801	2.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	T	0.74867	-0.3518	10	0.35671	T	0.21	.	17.0019	0.86383	0.0:0.0:1.0:0.0	.	2532;2532;2527	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	V	2527;2532	ENSP00000341848:A2527V;ENSP00000377275:A2532V	ENSP00000341848:A2527V	A	-	2	0	GOLGB1	122893306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.756000	0.98918	2.601000	0.87937	0.563000	0.77884	GCC	GOLGB1	-	NULL	ENSG00000173230		0.398	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1		0	23	0	G	NM_004487		121410616	-1			no_errors	ENST00000340645	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	121410616	G	A	121410616	3	1	80	1	0	0	0	0	1	0	0	0	6591	1203	42	3	2235	3	GOLGB1	3	121410616	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	231634	121410616	76611814	70	21071											
TM4SF18	116441	genome.wustl.edu	37	chr3	149051106	149051106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataatatgttcacgattaTactccaaagtgcaagcggaa	16	10	7	8	2	1	0	1	0	0	0	2	2	2	1	1	1	3	2	1	1	8	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:149051106T>C	ENST00000296059.2	-	2	329	c.64A>G	c.(64-66)Ata>Gta	p.I22V	TM4SF18_ENST00000470080.1_Missense_Mutation_p.I22V|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	22						integral component of membrane (GO:0016021)				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCACGATTATACTCCAAAGT	0.438																																																	0													76	73	74					3																	149051106		2203	4300	6503	SO:0001583	missense	0			BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.64A>G	3.37:g.149051106T>C	ENSP00000296059:p.Ile22Val		B2R8K0|D3DNH5	Missense_Mutation	SNP	pfam_L6_membrane	p.I22V	ENST00000296059.2	37	c.64	CCDS3142.1	3	.	.	.	.	.	.	.	.	.	.	T	17.18	3.324008	0.60634	.	.	ENSG00000163762	ENST00000296059;ENST00000470080;ENST00000474754	T;T;T	0.30448	1.53;1.53;1.53	4.8	4.8	0.61643	.	0.058889	0.64402	D	0.000003	T	0.38134	0.1029	L	0.56199	1.76	0.31989	N	0.604854	B	0.28880	0.226	B	0.40659	0.336	T	0.50294	-0.8845	10	0.38643	T	0.18	-5.5124	14.0068	0.64468	0.0:0.0:0.0:1.0	.	22	Q96CE8	T4S18_HUMAN	V	22	ENSP00000296059:I22V;ENSP00000419278:I22V;ENSP00000418372:I22V	ENSP00000296059:I22V	I	-	1	0	TM4SF18	150533796	1.000000	0.71417	0.928000	0.36995	0.867000	0.49689	5.141000	0.64814	1.777000	0.52277	0.528000	0.53228	ATA	TM4SF18	-	pfam_L6_membrane	ENSG00000163762		0.438	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF18	HGNC	protein_coding	OTTHUMT00000356326.1		0	20	0	T	NM_138786		149051106	-1			no_errors	ENST00000296059	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.996	C	C	149051106	T	C	149051106	3	2	80	1	0	0	0	0	1	0	0	0	16014	1406	49	4	561	4	TM4SF18	3	149051106	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	27640490	149051106	48971324	71	21072											
FAM194A	131831	genome.wustl.edu	37	chr3	150396288	150396288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtcatcaattatctgttTttctggaatatccacagaaa	14	15	5	7	0	4	1	2	0	2	1	5	2	5	2	1	1	0	1	1	1	6	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:150396288T>C	ENST00000295910.6	-	10	1217	c.1165A>G	c.(1165-1167)Aaa>Gaa	p.K389E	FAM194A_ENST00000491361.1_Missense_Mutation_p.K243E	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATTATCTGTTTTTCTGGAATA	0.289																																																	0													67	64	65					3																	150396288		2201	4290	6491	SO:0001583	missense	0																														ENST00000295910.6:c.1165A>G	3.37:g.150396288T>C	ENSP00000295910:p.Lys389Glu			Missense_Mutation	SNP	NULL	p.K389E	ENST00000295910.6	37	c.1165	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	T	1.134	-0.651637	0.03506	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.14144	2.75;2.53	3.85	1.29	0.21616	.	0.905682	0.09278	N	0.824229	T	0.12433	0.0302	L	0.56769	1.78	0.09310	N	1	P	0.36535	0.557	B	0.39258	0.295	T	0.26326	-1.0106	10	0.06757	T	0.87	-3.1228	4.9757	0.14138	0.0:0.1027:0.1847:0.7126	.	389	Q7L0X2	F194A_HUMAN	E	389;243;347	ENSP00000295910:K389E;ENSP00000419366:K243E	ENSP00000295910:K389E	K	-	1	0	FAM194A	151878978	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.047000	0.14056	0.149000	0.19098	-0.472000	0.04984	AAA	FAM194A	-	NULL	ENSG00000163645		0.289	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	-	0	28	0	T			150396288	-1	tier1	-	no_errors	ENST00000295910	ensembl	human	known	74_37	missense	12.73	48	7	SNP	0.000	C	C	150396288	T	C	150396288	3	2	80	1	0	0	0	0	1	0	0	0	5545	1850	64	4	846	4	FAM194A	3	150396288	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	1345182	150396288	47626142	72	21073											
IGSF10	285313	genome.wustl.edu	37	chr3	151164323	151164323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagttttttccatgggtatgGatgttggagcatatgtcatg	8	16	13	4	0	1	0	1	0	0	0	2	3	2	2	1	3	1	4	1	3	2	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:151164323G>A	ENST00000282466.3	-	4	3445	c.3446C>T	c.(3445-3447)tCc>tTc	p.S1149F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1149					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGGGTATGGATGTTGGAGC	0.408																																																	0													276	261	266					3																	151164323		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3446C>T	3.37:g.151164323G>A	ENSP00000282466:p.Ser1149Phe		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S1149F	ENST00000282466.3	37	c.3446	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114881	0.37339	.	.	ENSG00000152580	ENST00000282466	T	0.70045	-0.45	5.13	5.13	0.70059	.	0.155285	0.30244	N	0.010070	T	0.68035	0.2957	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.58577	0.841	T	0.61357	-0.7079	10	0.39692	T	0.17	.	13.9763	0.64275	0.0:0.0:0.8475:0.1525	.	1149	Q6WRI0	IGS10_HUMAN	F	1149	ENSP00000282466:S1149F	ENSP00000282466:S1149F	S	-	2	0	IGSF10	152647013	0.001000	0.12720	0.025000	0.17156	0.015000	0.08874	0.920000	0.28705	2.383000	0.81215	0.591000	0.81541	TCC	IGSF10	-	NULL	ENSG00000152580		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0	73	0	G	NM_178822		151164323	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	30.69	70	31	SNP	0.011	A	A	151164323	G	A	151164323	3	1	80	1	0	0	0	0	1	0	0	0	7624	1174	41	3	4485	3	IGSF10	3	151164323	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	768035	151164323	46858107	73	21074											
ECT2	1894	genome.wustl.edu	37	chr3	172520673	172520673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttttatcttctcaccGaagcttagtacagcgggttg	9	15	8	9	2	3	0	1	0	3	0	4	1	3	0	1	1	3	3	1	1	5	7			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:172520673G>T	ENST00000392692.3	+	20	2185	c.2009G>T	c.(2008-2010)cGa>cTa	p.R670L	ECT2_ENST00000417960.1_Missense_Mutation_p.R638L|ECT2_ENST00000427830.1_Missense_Mutation_p.R639L|ECT2_ENST00000540509.1_Missense_Mutation_p.R670L|ECT2_ENST00000232458.5_Missense_Mutation_p.R639L|ECT2_ENST00000441497.2_Missense_Mutation_p.R639L	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	670					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTCTCACCGAAGCTTAGTA	0.363																																																	0													74	73	73					3																	172520673		2203	4300	6503	SO:0001583	missense	0			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"Rho guanine nucleotide exchange factors"	3155	protein-coding gene	gene with protein product		600586	"epithelial cell transforming sequence 2 oncogene"			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.2009G>T	3.37:g.172520673G>T	ENSP00000376457:p.Arg670Leu		Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.R639L	ENST00000392692.3	37	c.1916	CCDS58860.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.334626	0.95758	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	5.93	5.93	0.95920	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0	T	0.69239	-0.5197	10	0.87932	D	0	-10.7748	20.3368	0.98748	0.0:0.0:1.0:0.0	.	670;115;670;639;638	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	L	639;670;639;638;639;670	ENSP00000232458:R639L;ENSP00000376457:R670L;ENSP00000401910:R639L;ENSP00000415876:R638L;ENSP00000412259:R639L;ENSP00000443160:R670L	ENSP00000232458:R639L	R	+	2	0	ECT2	174003367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.143000	0.94623	2.805000	0.96524	0.655000	0.94253	CGA	ECT2	-	NULL	ENSG00000114346		0.363	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2		0	48	0	G	NM_018098		172520673	1			no_errors	ENST00000427830	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	172520673	G	T	172520673	3	4	80	1	0	0	0	0	1	0	0	0	4915	1058	37	2	1986	2	ECT2	3	172520673	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	21356350	172520673	25501757	74	21075											
ATP13A5	344905	genome.wustl.edu	37	chr3	193081988	193081988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtctccagtagaacaccaGcagaaggcccccacaggtca	12	4	11	14	0	2	2	1	0	1	2	3	2	2	2	4	3	2	2	4	3	3	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr3:193081988G>A	ENST00000342358.4	-	2	262	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	49						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAACACCAGCAGAAGGCCC	0.537																																																	0													169	167	168					3																	193081988		2203	4300	6503	SO:0001819	synonymous_variant	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.145C>T	3.37:g.193081988G>A			Q6UWS4|Q6ZWL0	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.L49	ENST00000342358.4	37	c.145	CCDS33914.1	3																																																																																			ATP13A5	-	pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000187527		0.537	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1		0	43	0	G	NM_198505		193081988	-1			no_errors	ENST00000342358	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.209	A	A	193081988	G	A	193081988	2	1	80	1	0	0	0	0	0	0	0	1	1128	962	34	3		3	ATP13A5	3	193081988	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	20561315	193081988	4940442	75	21076											
ZNF732	654254	genome.wustl.edu	37	chr4	265860	265860	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcttagtaagggttgaGgacctattaaaggctttgcc	10	14	11	6	0	0	1	0	1	0	0	0	2	0	2	2	3	2	4	2	3	6	7			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:265860G>T	ENST00000419098.1	-	4	796	c.786C>A	c.(784-786)tcC>tcA	p.S262S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	262					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TAAGGGTTGAGGACCTATTAA	0.373																																																	0													57	50	52					4																	265860		692	1591	2283	SO:0001819	synonymous_variant	0			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"Zinc fingers, C2H2-type", "-"	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.786C>A	4.37:g.265860G>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S262	ENST00000419098.1	37	c.786	CCDS46990.1	4																																																																																			ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186777		0.373	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	-	0	46	0	G	NM_001137608		265860	-1	tier1	-	no_errors	ENST00000419098	ensembl	human	known	74_37	silent	51.11	22	23	SNP	0.001	T	T	265860	G	T	265860	2	4	80	1	0	0	0	0	0	0	0	1	18171	987	35	3		3	ZNF732	4	265860	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09		265860	190888416	76	21077											
CPZ	8532	genome.wustl.edu	37	chr4	8621087	8621087	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatcaagaaagtcatcatcCccgcccggatgaagagggct	12	7	10	12	2	4	3	4	1	0	2	5	4	5	4	3	2	0	1	3	2	3	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:8621087C>G	ENST00000360986.4	+	11	1876	c.1702C>G	c.(1702-1704)Ccc>Gcc	p.P568A	CPZ_ENST00000315782.6_Missense_Mutation_p.P557A|CPZ_ENST00000429646.2_Missense_Mutation_p.P176A|CPZ_ENST00000382480.2_Missense_Mutation_p.P431A	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	568					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTCATCATCCCCGCCCGGAT	0.577																																																	0													50	45	47					4																	8621087		2203	4300	6503	SO:0001583	missense	0			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"metallocarboxypeptidase Z"	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1702C>G	4.37:g.8621087C>G	ENSP00000354255:p.Pro568Ala		O00520|Q96MX2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom	p.P568A	ENST00000360986.4	37	c.1702	CCDS33953.1	4	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819866	0.71028	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782;ENST00000429646	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.21	5.21	0.72293	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.63129	0.2485	M	0.68728	2.09	0.58432	D	0.999999	D;D	0.76494	0.999;0.975	D;P	0.76071	0.987;0.514	T	0.62932	-0.6749	10	0.45353	T	0.12	-25.1387	16.9971	0.86370	0.0:1.0:0.0:0.0	.	557;568	Q66K79-2;Q66K79	.;CBPZ_HUMAN	A	568;431;557;176	ENSP00000354255:P568A;ENSP00000371920:P431A;ENSP00000315074:P557A;ENSP00000403981:P176A	ENSP00000315074:P557A	P	+	1	0	CPZ	8671987	1.000000	0.71417	0.995000	0.50966	0.456000	0.32438	7.014000	0.76380	2.435000	0.82474	0.555000	0.69702	CCC	CPZ	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000109625		0.577	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPZ	HGNC	protein_coding	OTTHUMT00000207001.4	-	0	51	0	C	NM_003652		8621087	1	tier1	-	no_errors	ENST00000360986	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	G	G	8621087	C	G	8621087	3	3	80	1	0	0	0	0	1	0	0	0	3846	623	22	5	1744	5	CPZ	4	8621087	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	8355227	8621087	182533189	77	21078											
SLIT2	9353	genome.wustl.edu	37	chr4	20569178	20569178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaattcatgcctgcatcaGtaacccatgtaaacatggag	13	9	7	12	0	2	0	2	0	0	0	2	1	2	1	3	1	4	3	3	1	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:20569178G>A	ENST00000504154.1	+	28	3140	c.2888G>A	c.(2887-2889)aGt>aAt	p.S963N	SLIT2_ENST00000273739.5_Missense_Mutation_p.S967N|SLIT2_ENST00000503823.1_Missense_Mutation_p.S955N|SLIT2_ENST00000503837.1_Missense_Mutation_p.S959N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	963	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCCTGCATCAGTAACCCATGT	0.453																																																	0													144	132	136					4																	20569178		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2888G>A	4.37:g.20569178G>A	ENSP00000422591:p.Ser963Asn		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.S963N	ENST00000504154.1	37	c.2888	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898131	0.72639	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000511508	D;D;D;D;D	0.98419	-2.68;-2.68;-2.68;-2.68;-4.92	5.98	5.98	0.97165	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.118187	0.85682	D	0.000000	D	0.97632	0.9224	M	0.66297	2.02	0.80722	D	1	B;B	0.15930	0.015;0.01	B;B	0.28638	0.055;0.092	D	0.94703	0.7885	10	0.45353	T	0.12	.	20.5176	0.99214	0.0:0.0:1.0:0.0	.	955;963	O94813-3;O94813	.;SLIT2_HUMAN	N	955;963;967;959;959;175	ENSP00000427548:S955N;ENSP00000422591:S963N;ENSP00000273739:S967N;ENSP00000422261:S959N;ENSP00000421975:S175N	ENSP00000273739:S967N	S	+	2	0	SLIT2	20178276	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.751000	0.74893	2.852000	0.98041	0.644000	0.83932	AGT	SLIT2	-	pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000145147		0.453	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	43	0	G			20569178	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	20569178	G	A	20569178	3	1	80	1	0	0	0	0	1	0	0	0	14785	1029	36	3	2998	3	SLIT2	4	20569178	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	11948091	20569178	170585098	78	21079											
ATP8A1	10396	genome.wustl.edu	37	chr4	42526846	42526846	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgacgtctctgccagtcGatcataaattacagtgtcct	9	15	7	10	2	2	1	1	1	1	0	5	2	3	1	2	0	2	0	2	0	3	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:42526846G>A	ENST00000381668.5	-	21	1972	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.R566*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	581					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCTGCCAGTCGATCATAAATT	0.333																																																	0													91	87	88					4																	42526846		2201	4298	6499	SO:0001587	stop_gained	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1741C>T	4.37:g.42526846G>A	ENSP00000371084:p.Arg581*		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R581*	ENST00000381668.5	37	c.1741	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.518455	0.98332	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.81	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2038	0.82105	0.0:0.0:0.8657:0.1343	.	.	.	.	X	581;566	.	ENSP00000264449:R566X	R	-	1	2	ATP8A1	42221603	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	6.899000	0.75682	1.434000	0.47414	0.655000	0.94253	CGA	ATP8A1	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.333	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	111	0	G	NM_006095		42526846	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	nonsense	26.09	84	30	SNP	1.000	A	A	42526846	G	A	42526846	4	1	80	1	0	0	0	0	0	1	0	0	1193	1066	37	1	1821	1	ATP8A1	4	42526846	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	21957668	42526846	148627430	79	21080											
FRYL	285527	genome.wustl.edu	37	chr4	48591842	48591842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttctttgtccaaatgTctgaggatgctatctaatgc	10	14	7	10	0	3	1	0	1	3	0	4	2	4	2	2	1	3	1	2	1	4	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:48591842T>C	ENST00000503238.1	-	15	1559	c.1560A>G	c.(1558-1560)agA>agG	p.R520R	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.R520R|FRYL_ENST00000506685.1_Silent_p.R226R|FRYL_ENST00000507711.1_Silent_p.R520R|FRYL_ENST00000358350.4_Silent_p.R520R			O94915	FRYL_HUMAN	FRY-like	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGTCCAAATGTCTGAGGATGC	0.358																																																	0													188	174	178					4																	48591842		1874	4111	5985	SO:0001819	synonymous_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1560A>G	4.37:g.48591842T>C			O95640|Q8WTZ5|Q9NT40	Silent	SNP	superfamily_ARM-type_fold	p.R520	ENST00000503238.1	37	c.1560	CCDS43227.1	4																																																																																			FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.358	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	60	0	T			48591842	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	silent	32.61	31	15	SNP	0.929	C	C	48591842	T	C	48591842	2	2	80	1	0	0	0	0	0	0	0	1	6088	1664	58	4		4	FRYL	4	48591842	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	6064996	48591842	142562434	80	21081											
LPHN3	23284	genome.wustl.edu	37	chr4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtacaatgacaggttattGgtcaacacaaggctgtcggc	11	9	12	9	2	1	1	1	1	0	0	2	1	1	1	0	4	2	3	0	4	5	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:62813888G>T	ENST00000514591.1	+	16	2824	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L|LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000512091.2_Missense_Mutation_p.W832L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	819	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.W832L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403																																																	3	Substitution - Missense(3)	prostate(3)											97	87	90					4																	62813888		1894	4116	6010	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2495G>T	4.37:g.62813888G>T	ENSP00000422533:p.Trp832Leu		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.W900L	ENST00000514591.1	37	c.2699	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.097063|5.097063	0.94197|0.94197	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.92595	.|-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.98|5.98	5.98|5.98	0.97165|0.97165	.|GPS domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98036|0.98036	0.9353|0.9353	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.998	.|D;D;D	.|0.83275	.|0.996;0.996;0.994	D|D	0.98633|0.98633	1.0672|1.0672	5|10	.|0.87932	.|D	.|0	.|.	20.5212|20.5212	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|832;819;832	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	F|L	289|832;832;900;900;832;832;819;832;900;900;900;832;832;832;900;900;832	.|ENSP00000423388:W832L;ENSP00000422533:W832L;ENSP00000423787:W900L;ENSP00000425033:W900L;ENSP00000424120:W832L;ENSP00000439831:W832L;ENSP00000421476:W900L;ENSP00000424030:W900L;ENSP00000421372:W900L;ENSP00000425201:W832L;ENSP00000423434:W832L;ENSP00000421627:W832L;ENSP00000420931:W900L;ENSP00000425884:W900L;ENSP00000424258:W832L	.|ENSP00000280009:W832L	L|W	+|+	3|2	2|0	LPHN3|LPHN3	62496483|62496483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.865000|9.865000	0.99609|0.99609	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	TTG|TGG	LPHN3	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000150471		0.403	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0	21	0	G			62813888	1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	62813888	G	T	62813888	3	4	80	1	0	0	0	0	1	0	0	0	8952	1357	47	3	2549	3	LPHN3	4	62813888	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	14222046	62813888	128340388	81	21082											
UGT2B28	54490	genome.wustl.edu	37	chr4	70156482	70156482	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggacttccacacaatgtcGagtacagacctgctgaatgc	11	9	9	12	1	0	2	0	1	0	1	2	4	1	3	2	1	3	2	2	1	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:70156482G>C	ENST00000335568.5	+	5	1265	c.1263G>C	c.(1261-1263)tcG>tcC	p.S421S	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	421					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						ACACAATGTCGAGTACAGACC	0.423																																																	0													118	126	123					4																	70156482		2044	4235	6279	SO:0001819	synonymous_variant	0			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"UDP glucuronosyltransferases"	13479	protein-coding gene	gene with protein product		606497	"UDP glycosyltransferase 2 family, polypeptide B28"			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1263G>C	4.37:g.70156482G>C			B5BUM0|Q9BY62|Q9BY63	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S421	ENST00000335568.5	37	c.1263	CCDS3528.1	4																																																																																			UGT2B28	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	ENSG00000135226		0.423	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B28	HGNC	protein_coding	OTTHUMT00000251557.2	-	0	164	0	G	NM_053039		70156482	1	tier1	-	no_errors	ENST00000335568	ensembl	human	known	74_37	silent	25.81	92	32	SNP	0.001	C	C	70156482	G	C	70156482	2	2	80	1	0	0	0	0	0	0	0	1	17009	1045	37	5		5	UGT2B28	4	70156482	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	7342594	70156482	120997794	82	21083											
PF4V1	5197	genome.wustl.edu	37	chr4	74719825	74719825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagaaaatcattaaggaaCatttggagagttagctacta	18	10	8	5	0	1	2	1	0	0	2	1	4	1	3	0	2	3	2	0	2	8	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:74719825C>T	ENST00000226524.3	+	3	475	c.301C>T	c.(301-303)Cat>Tat	p.H101Y		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	101	Heparin-binding.				cell chemotaxis (GO:0060326)|immune response (GO:0006955)	extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CATTAAGGAACATTTGGAGAG	0.398																																																	0													80	82	82					4																	74719825		2203	4300	6503	SO:0001583	missense	0			M26167	CCDS3561.1	4q12-q21	2008-08-15			ENSG00000109272	ENSG00000109272			8862	protein-coding gene	gene with protein product		173461				2725510	Standard	NM_002620		Approved	SCYB4V1, CXCL4V1, CXCL4L1	uc003hhg.1	P10720	OTTHUMG00000130177	ENST00000226524.3:c.301C>T	4.37:g.74719825C>T	ENSP00000226524:p.His101Tyr		A1L4S0	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.H101Y	ENST00000226524.3	37	c.301	CCDS3561.1	4	.	.	.	.	.	.	.	.	.	.	C	8.803	0.933465	0.18206	.	.	ENSG00000109272	ENST00000226524	.	.	.	3.9	1.06	0.20224	Chemokine interleukin-8-like domain (2);	0.728841	0.12956	N	0.425459	T	0.07908	0.0198	N	0.03608	-0.345	0.09310	N	1	P	0.39250	0.665	B	0.28638	0.092	T	0.18366	-1.0339	9	0.48119	T	0.1	.	4.5453	0.12078	0.3886:0.5036:0.0:0.1079	.	101	P10720	PF4V_HUMAN	Y	101	.	ENSP00000226524:H101Y	H	+	1	0	PF4V1	74938689	0.001000	0.12720	0.013000	0.15412	0.006000	0.05464	-0.591000	0.05753	0.175000	0.19841	0.655000	0.94253	CAT	PF4V1	-	superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000109272		0.398	PF4V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PF4V1	HGNC	protein_coding	OTTHUMT00000252495.1	-	0	12	0	C			74719825	1	tier1	-	no_errors	ENST00000226524	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.021	T	T	74719825	C	T	74719825	3	4	80	1	0	0	0	0	1	0	0	0	11792	478	17	3	311	3	PF4V1	4	74719825	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	4563343	74719825	116434451	83	21084											
SCARB2	950	genome.wustl.edu	37	chr4	77091064	77091064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtcttcctgatttgggtGcatgccttctatggcagaaa	8	14	11	8	0	2	2	0	1	2	1	3	2	3	2	2	3	2	2	2	3	2	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:77091064G>A	ENST00000264896.2	-	8	1418	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	SCARB2_ENST00000452464.2_Missense_Mutation_p.H214Y	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	357					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TGATTTGGGTGCATGCCTTCT	0.398																																																	0													162	151	155					4																	77091064		2203	4300	6503	SO:0001583	missense	0			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1069C>T	4.37:g.77091064G>A	ENSP00000264896:p.His357Tyr		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold,prints_LimpII,prints_CD36,prints_CD36_antigen	p.H357Y	ENST00000264896.2	37	c.1069	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376100	0.61735	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.72167	-0.63;-0.63	4.87	3.97	0.46021	.	0.482474	0.24922	N	0.034538	T	0.78773	0.4336	M	0.68728	2.09	0.35714	D	0.816654	D;P	0.61697	0.99;0.909	P;P	0.60236	0.871;0.808	D	0.84100	0.0395	10	0.56958	D	0.05	.	12.2449	0.54563	0.0:0.0:0.7262:0.2738	.	214;357	E7EM68;Q14108	.;SCRB2_HUMAN	Y	357;214	ENSP00000264896:H357Y;ENSP00000399154:H214Y	ENSP00000264896:H357Y	H	-	1	0	SCARB2	77310088	0.997000	0.39634	0.925000	0.36789	0.923000	0.55619	2.117000	0.41939	2.406000	0.81754	0.460000	0.39030	CAC	SCARB2	-	pfam_CD36,superfamily_NA-bd_OB-fold,prints_CD36_antigen	ENSG00000138760		0.398	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	-	0	35	0	G	NM_005506		77091064	-1	tier1	-	no_errors	ENST00000264896	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.936	A	A	77091064	G	A	77091064	3	1	80	1	0	0	0	0	1	0	0	0	13927	1319	46	3	387	3	SCARB2	4	77091064	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	2371239	77091064	114063212	84	21085											
PRKG2	5593	genome.wustl.edu	37	chr4	82126024	82126024	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatggccacagtctgctTcgacagctgctcccgcagct	8	8	10	15	2	1	0	0	0	1	0	3	1	2	0	2	1	5	6	2	1	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:82126024T>A	ENST00000395578.1	-	2	294	c.178A>T	c.(178-180)Aag>Tag	p.K60*	PRKG2_ENST00000264399.1_Nonsense_Mutation_p.K60*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.K60*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	60					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACAGTCTGCTTCGACAGCTGC	0.562																																																	0													111	109	110					4																	82126024		2203	4300	6503	SO:0001587	stop_gained	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.178A>T	4.37:g.82126024T>A	ENSP00000378945:p.Lys60*		B4DMX3|E7EPE6|O00125|O60916	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.K60*	ENST00000395578.1	37	c.178	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	T	38	7.263865	0.98171	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	.	.	.	5.34	5.34	0.76211	.	0.374882	0.30979	N	0.008485	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-14.9826	10.5978	0.45349	0.0:0.0766:0.0:0.9234	.	.	.	.	X	60	.	ENSP00000264399:K60X	K	-	1	0	PRKG2	82345048	0.991000	0.36638	0.791000	0.31998	0.934000	0.57294	2.211000	0.42825	2.244000	0.73946	0.477000	0.44152	AAG	PRKG2	-	pirsf_cGMP-dependent_protein_kinase	ENSG00000138669		0.562	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0	30	0	T	NM_006259		82126024	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	nonsense	66.67	5	10	SNP	0.871	A	A	82126024	T	A	82126024	4	1	80	1	0	0	0	0	0	1	0	0	12565	1792	62	5	2182	5	PRKG2	4	82126024	Nonsense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	5034960	82126024	109028252	85	21086											
ARSJ	79642	genome.wustl.edu	37	chr4	114823556	114823556	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggcttctttttcttggtTtcctctttataccatggtcc	3	21	6	11	0	3	0	0	0	3	0	5	0	5	0	3	3	1	2	3	3	2	9			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:114823556T>G	ENST00000315366.7	-	2	2540	c.1674A>C	c.(1672-1674)gaA>gaC	p.E558D	ARSJ_ENST00000541197.1_Missense_Mutation_p.E558D	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	558					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		ttttcttggtttcctcttTAT	0.443																																																	0													88	74	78					4																	114823556		1820	4082	5902	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1674A>C	4.37:g.114823556T>G	ENSP00000320219:p.Glu558Asp		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.E558D	ENST00000315366.7	37	c.1674	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	T	6.510	0.462339	0.12342	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.97161	-4.26;-4.27	5.21	-2.1	0.07210	.	2.052410	0.02877	N	0.132413	D	0.91533	0.7326	N	0.21545	0.675	0.19775	N	0.999956	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	D	0.84070	0.0379	10	0.17832	T	0.49	.	2.8803	0.05645	0.1254:0.4105:0.2104:0.2537	.	558;558	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	D	558;558;127	ENSP00000320219:E558D;ENSP00000438836:E558D	ENSP00000320219:E558D	E	-	3	2	ARSJ	115043005	0.000000	0.05858	0.180000	0.23079	0.443000	0.32047	-0.324000	0.07986	0.024000	0.15214	0.533000	0.62120	GAA	ARSJ	-	NULL	ENSG00000180801		0.443	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	-	0	45	0	T	NM_024590		114823556	-1	tier1	-	no_errors	ENST00000315366	ensembl	human	known	74_37	missense	70.83	7	17	SNP	0.003	G	G	114823556	T	G	114823556	3	3	80	1	0	0	0	0	1	0	0	0	996	1838	64	4	129	4	ARSJ	4	114823556	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	32697532	114823556	76330720	86	21087											
UCP1	7350	genome.wustl.edu	37	chr4	141481057	141481057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttgaagctgattatgtgGcacagtccatagtctgcctt	8	15	9	9	0	2	2	0	2	2	0	3	2	3	2	2	1	2	2	2	1	3	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr4:141481057G>A	ENST00000262999.3	-	6	992	c.917C>T	c.(916-918)gCc>gTc	p.A306V		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	306					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TGATTATGTGGCACAGTCCAT	0.383																																																	0													177	146	156					4																	141481057		2203	4300	6503	SO:0001583	missense	0			X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"Solute carriers"	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.917C>T	4.37:g.141481057G>A	ENSP00000262999:p.Ala306Val		Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.A306V	ENST00000262999.3	37	c.917	CCDS3753.1	4	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855832	0.51376	.	.	ENSG00000109424	ENST00000262999	T	0.76968	-1.06	5.23	4.39	0.52855	.	0.370115	0.24298	N	0.039741	T	0.68449	0.3002	L	0.36672	1.1	0.29912	N	0.823452	B;B	0.21381	0.055;0.055	B;B	0.12837	0.008;0.008	T	0.67313	-0.5702	10	0.72032	D	0.01	.	11.8036	0.52141	0.0857:0.0:0.9143:0.0	.	305;306	Q4KMT7;P25874	.;UCP1_HUMAN	V	306	ENSP00000262999:A306V	ENSP00000262999:A306V	A	-	2	0	UCP1	141700507	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	3.734000	0.55037	1.214000	0.43395	0.591000	0.81541	GCC	UCP1	-	NULL	ENSG00000109424		0.383	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP1	HGNC	protein_coding	OTTHUMT00000257273.1	-	0	49	0	G			141481057	-1	tier1	-	no_errors	ENST00000262999	ensembl	human	known	74_37	missense	6.25	59	4	SNP	0.867	A	A	141481057	G	A	141481057	3	1	80	1	0	0	0	0	1	0	0	0	16979	1203	42	3	8	3	UCP1	4	141481057	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	26657501	141481057	49673219	87	21088											
PAPD7	11044	genome.wustl.edu	37	chr5	6746462	6746462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggaggtgcctatatcGccaaagaggagatcatgaaa	17	6	12	6	1	1	4	1	1	0	3	2	6	1	5	2	3	1	0	2	3	6	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:6746462G>T	ENST00000230859.6	+	7	760	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	441					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGCCTATATCGCCAAAGAGGA	0.463																																					NSCLC(7;212 333 5667 23379 46547)												0													100	106	104					5																	6746462		2203	4300	6503	SO:0001583	missense	0			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.631G>T	5.37:g.6746462G>T	ENSP00000230859:p.Ala211Ser		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.A211S	ENST00000230859.6	37	c.631	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283397	0.40394	.	.	ENSG00000112941	ENST00000230859	T	0.73681	-0.77	5.47	3.66	0.41972	PAP/25A-associated (1);	0.216136	0.48286	N	0.000194	T	0.40015	0.1100	N	0.01009	-1.055	0.53005	D	0.999961	B;B	0.29671	0.254;0.102	B;B	0.28011	0.085;0.085	T	0.40590	-0.9555	10	0.06891	T	0.86	-4.4728	10.6579	0.45686	0.0687:0.0:0.7986:0.1328	.	211;211	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	S	211	ENSP00000230859:A211S	ENSP00000230859:A211S	A	+	1	0	PAPD7	6799462	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.028000	0.57246	0.766000	0.33244	0.561000	0.74099	GCC	PAPD7	-	pfam_PAP_assoc	ENSG00000112941		0.463	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1		0	56	0	G	NM_006999		6746462	1			no_errors	ENST00000230859	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	6746462	G	T	6746462	3	4	80	1	0	0	0	0	1	0	0	0	11465	1087	38	2	653	2	PAPD7	5	6746462	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09		6746462	174168798	88	21089											
C5orf22	55322	genome.wustl.edu	37	chr5	31535892	31535892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattatgcctgcagtttatgCtggccatttttcacatgtaa	9	16	8	8	0	1	0	1	0	0	0	1	1	1	0	2	1	3	4	2	1	3	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:31535892C>T	ENST00000325366.9	+	3	396	c.269C>T	c.(268-270)gCt>gTt	p.A90V	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	90										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						GCAGTTTATGCTGGCCATTTT	0.363																																																	0													93	86	88					5																	31535892		2203	4300	6503	SO:0001583	missense	0			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.269C>T	5.37:g.31535892C>T	ENSP00000326879:p.Ala90Val		Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	superfamily_ICAT	p.A90V	ENST00000325366.9	37	c.269	CCDS3895.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.598925	0.96614	.	.	ENSG00000082213	ENST00000325366;ENST00000507818	T;T	0.52526	0.66;0.66	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77970	-0.2387	10	0.87932	D	0	-23.2775	20.5568	0.99304	0.0:1.0:0.0:0.0	.	90	Q49AR2	CE022_HUMAN	V	90;121	ENSP00000326879:A90V;ENSP00000430860:A121V	ENSP00000326879:A90V	A	+	2	0	C5orf22	31571649	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.400000	0.79949	2.861000	0.98227	0.655000	0.94253	GCT	C5orf22	-	NULL	ENSG00000082213		0.363	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf22	HGNC	protein_coding	OTTHUMT00000253726.2	-	0	44	0	C	NM_018356		31535892	1	tier1	-	no_errors	ENST00000325366	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	31535892	C	T	31535892	3	4	80	1	0	0	0	0	1	0	0	0	2292	797	28	3	279	3	C5orf22	5	31535892	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	24789430	31535892	149379368	89	21090											
NIPBL	25836	genome.wustl.edu	37	chr5	36985224	36985224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactaaagttgagacccaaAcagaagaacttaaacagaat	22	6	6	7	0	0	4	0	1	0	4	0	5	0	4	1	0	4	1	1	0	9	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:36985224A>G	ENST00000282516.8	+	10	2441	c.1942A>G	c.(1942-1944)Aca>Gca	p.T648A	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T648A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	648				T -> I (in Ref. 2; CAD98051/CAD98052). {ECO:0000305}.	brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAGACCCAAACAGAAGAACT	0.353																																																	0													87	90	89					5																	36985224		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1942A>G	5.37:g.36985224A>G	ENSP00000282516:p.Thr648Ala		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T648A	ENST00000282516.8	37	c.1942	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	6.733	0.504063	0.12822	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92647	-3.08;-3.08	5.65	5.65	0.86999	.	0.227465	0.35708	N	0.003021	D	0.89677	0.6784	N	0.08118	0	0.39643	D	0.97035	P;D	0.56035	0.956;0.974	P;D	0.67725	0.899;0.953	D	0.86675	0.1913	10	0.08599	T	0.76	.	15.877	0.79173	1.0:0.0:0.0:0.0	.	648;648	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	A	648	ENSP00000282516:T648A;ENSP00000406266:T648A	ENSP00000282516:T648A	T	+	1	0	NIPBL	37020981	0.817000	0.29147	0.972000	0.41901	0.659000	0.38960	0.148000	0.16224	2.288000	0.76882	0.528000	0.53228	ACA	NIPBL	-	NULL	ENSG00000164190		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1		0	28	0	A	NM_015384		36985224	1			no_errors	ENST00000282516	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.992	G	G	36985224	A	G	36985224	3	3	80	1	0	0	0	0	1	0	0	0	10467	43	2	4	1976	4	NIPBL	5	36985224	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	5449332	36985224	143930036	90	21091											
MARVELD2	153562	genome.wustl.edu	37	chr5	68715895	68715895	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacttgtttggatattCacaaccgtatggcatgggag	11	12	11	7	1	1	0	1	0	0	0	1	2	1	2	1	3	3	4	1	3	5	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:68715895C>A	ENST00000325631.5	+	2	757	c.683C>A	c.(682-684)tCa>tAa	p.S228*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.S228*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	228	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TTTGGATATTCACAACCGTAT	0.507																																																	0													197	180	186					5																	68715895		2203	4300	6503	SO:0001587	stop_gained	0			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.683C>A	5.37:g.68715895C>A	ENSP00000323264:p.Ser228*		A1BQX0|A1BQX1|A8KA97|Q96NM9	Nonsense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel	p.S228*	ENST00000325631.5	37	c.683	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	C	38	7.063027	0.98036	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	.	.	.	5.12	3.3	0.37823	.	0.338832	0.31847	N	0.006972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4038	11.1153	0.48256	0.1443:0.7167:0.139:0.0	.	.	.	.	X	228	.	ENSP00000282886:S228X	S	+	2	0	MARVELD2	68751651	0.961000	0.32948	0.000000	0.03702	0.942000	0.58702	3.913000	0.56394	0.519000	0.28406	0.561000	0.74099	TCA	MARVELD2	-	pfam_Marvel	ENSG00000152939		0.507	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1	-	0	62	0	C	NM_144724		68715895	1	tier1	-	no_errors	ENST00000325631	ensembl	human	known	74_37	nonsense	33.33	36	18	SNP	0.350	A	A	68715895	C	A	68715895	4	1	80	1	0	0	0	0	0	1	0	0	9356	838	29	3	685	3	MARVELD2	5	68715895	Nonsense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	31730671	68715895	112199365	91	21092											
COL4A3BP	10087	genome.wustl.edu	37	chr5	74722305	74722306	+	Splice_Site	INS	-	-	A																															tccatatccagattcagtctINSaaaaaaaaaagtaaactatg																								rs540751366	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:74722305_74722306insA	ENST00000405807.4	-	4	770		c.e4-2		COL4A3BP_ENST00000261415.7_Splice_Site|COL4A3BP_ENST00000380494.5_Splice_Site	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein						cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		AGATTCAGTCTAAAAAAAAAAG	0.366																																																	0																																										SO:0001630	splice_region_variant	0			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"StAR-related lipid transfer (START) domain containing", "Pleckstrin homology (PH) domain containing"	2205	protein-coding gene	gene with protein product	"ceramide transporter", "StAR-related lipid transfer (START) domain containing 11"	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.349-2->T	5.37:g.74722315_74722315dupA			A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Splice_Site	INS	-	e5-2	ENST00000405807.4	37	c.733-3_733-2	CCDS4028.1	5																																																																																			COL4A3BP	-	-	ENSG00000113163		0.366	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2		0	34	0	-	NM_005713	Intron	74722306	-1	tier1		no_errors	ENST00000380494	ensembl	human	known	74_37	splice_site_ins	7.89	35	3	INS	1.000:0.996	A	A	74722306	-	A	74722305	8	5	80	1	0	1	1	0	0	0	1	0	3699	1536	53	0	1583	0	COL4A3BP	5	74722305	Splice_Site	INS	-	TCGA-L5-A8NF-01A-11D-A37C-09	6006410	74722305	106192955	92	21093											
DCP2	167227	genome.wustl.edu	37	chr5	112346477	112346477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaagaaacttcatccaCggaaacttcaggataatttt	16	11	7	7	1	2	2	2	1	0	1	3	4	3	4	1	2	2	0	1	2	5	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:112346477C>T	ENST00000389063.2	+	10	1270	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	DCP2_ENST00000543319.1_Missense_Mutation_p.R147W|DCP2_ENST00000515408.1_Missense_Mutation_p.R323W	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	358					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		ACTTCATCCACGGAAACTTCA	0.313																																																	0													160	169	166					5																	112346477		2201	4300	6501	SO:0001583	missense	0			AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"Nudix motif containing"	24452	protein-coding gene	gene with protein product	"nudix (nucleoside diphosphate linked moiety X)-type motif 20", "M(7)GpppN-mRNA hydrolase"	609844	"DCP2 decapping enzyme homolog (S. cerevisiae)"			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.1072C>T	5.37:g.112346477C>T	ENSP00000373715:p.Arg358Trp		C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	pfam_mRNA_decapping_BoxA,pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.R358W	ENST00000389063.2	37	c.1072	CCDS34210.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.028532|4.028532	0.75390|0.75390	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.69175|.	-0.38;0.27|.	5.74|5.74	3.78|3.78	0.43462|0.43462	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44808|0.44808	0.1311|0.1311	L|L	0.32530|0.32530	0.975|0.975	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.998|.	T|T	0.27502|0.27502	-1.0072|-1.0072	10|5	0.87932|.	D|.	0|.	.|.	7.772|7.772	0.29015|0.29015	0.3052:0.5729:0.1219:0.0|0.3052:0.5729:0.1219:0.0	.|.	323;358|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	W|M	323;358;147|339	ENSP00000425770:R323W;ENSP00000373715:R358W|.	ENSP00000373715:R358W|.	R|T	+|+	1|2	2|0	DCP2|DCP2	112374376|112374376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.566000|2.566000	0.45948|0.45948	1.413000|1.413000	0.46997|0.46997	0.637000|0.637000	0.83480|0.83480	CGG|ACG	DCP2	-	NULL	ENSG00000172795		0.313	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP2	HGNC	protein_coding	OTTHUMT00000370765.3	-	0	53	0	C	NM_152624		112346477	1	tier1	-	no_errors	ENST00000389063	ensembl	human	known	74_37	missense	46.30	29	25	SNP	1.000	T	T	112346477	C	T	112346477	3	4	80	1	0	0	0	0	1	0	0	0	4309	527	19	1	1110	1	DCP2	5	112346477	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	37624172	112346477	68568783	93	21094											
FBN2	2201	genome.wustl.edu	37	chr5	127674677	127674677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatagccttcgaagcactcGcactcaaagctgcccggtgt	9	9	9	14	3	2	0	2	0	0	0	4	1	2	0	2	1	4	3	2	1	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:127674677G>A	ENST00000508053.1	-	32	4394	c.3420C>T	c.(3418-3420)tgC>tgT	p.C1140C	FBN2_ENST00000508989.1_Silent_p.C1107C|FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.C1140C			P35556	FBN2_HUMAN	fibrillin 2	1140	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGAAGCACTCGCACTCAAAGC	0.488																																																	0													103	84	91					5																	127674677		2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3420C>T	5.37:g.127674677G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C1140	ENST00000508053.1	37	c.3420	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.488	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	21	0	G	NM_001999		127674677	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.867	A	A	127674677	G	A	127674677	2	1	80	1	0	0	0	0	0	0	0	1	5725	1079	38	1		1	FBN2	5	127674677	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	15328200	127674677	53240583	94	21095											
PCDHGB6	56100	genome.wustl.edu	37	chr5	140788747	140788747	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgaaggacggaggtggTctctctacccagtgtaaagt	11	8	14	8	2	2	0	0	0	2	0	3	4	2	2	1	4	2	1	1	4	5	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:140788747T>A	ENST00000520790.1	+	1	978	c.978T>A	c.(976-978)ggT>ggA	p.G326G	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGAGGTGGTCTCTCTACCC	0.388																																																	0													102	105	104					5																	140788747		1913	4119	6032	SO:0001819	synonymous_variant	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.978T>A	5.37:g.140788747T>A			Q9Y5C5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G326	ENST00000520790.1	37	c.978	CCDS54929.1	5																																																																																			PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253305		0.388	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	-	0	35	0	T	NM_018926		140788747	1	tier1	-	no_errors	ENST00000520790	ensembl	human	known	74_37	silent	30.77	36	16	SNP	0.000	A	A	140788747	T	A	140788747	2	1	80	1	0	0	0	0	0	0	0	1	11606	1654	58	5		5	PCDHGB6	5	140788747	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	13114070	140788747	40126513	95	21096											
PDE6A	5145	genome.wustl.edu	37	chr5	149323979	149323979	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtctgcctgcaggaggaaGcacagcttcttcatgacatt	9	10	11	11	1	3	1	1	1	2	0	3	3	3	3	1	3	4	3	1	3	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:149323979G>A	ENST00000255266.5	-	1	377	c.258C>T	c.(256-258)tgC>tgT	p.C86C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	86	GAF 1.				cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	GCAGGAGGAAGCACAGCTTCT	0.517																																																	0													79	79	79					5																	149323979		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.258C>T	5.37:g.149323979G>A			Q0P638	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.C86	ENST00000255266.5	37	c.258	CCDS4299.1	5																																																																																			PDE6A	-	pfam_GAF,smart_GAF	ENSG00000132915		0.517	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	HGNC	protein_coding	OTTHUMT00000252326.2	-	0	24	0	G			149323979	-1	tier1	-	no_errors	ENST00000255266	ensembl	human	known	74_37	silent	16.67	15	3	SNP	1.000	A	A	149323979	G	A	149323979	2	1	80	1	0	0	0	0	0	0	0	1	11684	963	34	3		3	PDE6A	5	149323979	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	8535232	149323979	31591281	96	21097											
GABRA6	2559	genome.wustl.edu	37	chr5	161128522	161128522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatcctgactccaaatatCatctgaagaaaaggatcact	16	9	6	10	0	3	3	2	2	1	1	5	4	5	4	2	1	1	1	2	1	5	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:161128522C>T	ENST00000274545.5	+	9	1538	c.1105C>T	c.(1105-1107)Cat>Tat	p.H369Y	GABRA6_ENST00000523217.1_Missense_Mutation_p.H359Y			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	369					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.H369Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CTCCAAATATCATCTGAAGAA	0.378										TCGA Ovarian(5;0.080)																																							1	Substitution - Missense(1)	skin(1)											104	109	107					5																	161128522		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1105C>T	5.37:g.161128522C>T	ENSP00000274545:p.His369Tyr		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.H369Y	ENST00000274545.5	37	c.1105	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	C	5.469	0.271617	0.10349	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83914	-1.78;-1.78	5.16	-0.862	0.10673	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.571169	0.17860	N	0.159575	T	0.59128	0.2171	N	0.04959	-0.14	0.24253	N	0.99532	B	0.02656	0.0	B	0.12837	0.008	T	0.46938	-0.9155	10	0.30854	T	0.27	.	4.9722	0.14121	0.4759:0.2697:0.0:0.2544	.	369	Q16445	GBRA6_HUMAN	Y	369;359	ENSP00000274545:H369Y;ENSP00000430527:H359Y	ENSP00000274545:H369Y	H	+	1	0	GABRA6	161061100	0.710000	0.27896	0.635000	0.29338	0.943000	0.58893	1.108000	0.31123	0.013000	0.14918	0.655000	0.94253	CAT	GABRA6	-	superfamily_Neurotrans-gated_channel_TM,prints_GABBAa6_rcpt	ENSG00000145863		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2		0	33	0	C			161128522	1			no_errors	ENST00000274545	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.229	T	T	161128522	C	T	161128522	3	4	80	1	0	0	0	0	1	0	0	0	6189	826	29	3	1139	3	GABRA6	5	161128522	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	11804543	161128522	19786738	97	21098											
STK10	6793	genome.wustl.edu	37	chr5	171509489	171509489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttctctaattccgtGtcaaagaacttcttcttggc	8	15	7	11	1	4	1	1	0	3	1	7	1	6	1	2	2	1	1	2	2	3	6	rs144136778	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr5:171509489G>T	ENST00000176763.5	-	12	2173	c.1830C>A	c.(1828-1830)gaC>gaA	p.D610E	AC113342.1_ENST00000579783.1_RNA	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	610					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTAATTCCGTGTCAAAGAACT	0.537																																																	0													75	73	74					5																	171509489		2203	4300	6503	SO:0001583	missense	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.1830C>A	5.37:g.171509489G>T	ENSP00000176763:p.Asp610Glu		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D610E	ENST00000176763.5	37	c.1830	CCDS34290.1	5	.	.	.	.	.	.	.	.	.	.	G	9.987	1.229629	0.22542	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.26067	1.76	5.11	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	L	0.46885	1.475	0.49582	D	0.999801	D	0.89917	1.0	D	0.79784	0.993	T	0.06356	-1.0831	10	0.23891	T	0.37	.	9.8155	0.40849	0.1729:0.0:0.8271:0.0	.	610	O94804	STK10_HUMAN	E	610	ENSP00000176763:D610E	ENSP00000176763:D610E	D	-	3	2	STK10	171442094	0.695000	0.27747	0.737000	0.30932	0.008000	0.06430	0.964000	0.29306	1.164000	0.42652	-0.136000	0.14681	GAC	STK10	-	pfam_PKK	ENSG00000072786		0.537	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2		0	24	0	G	NM_005990		171509489	-1			no_errors	ENST00000176763	ensembl	human	known	74_37	missense	10.26	34	4	SNP	0.891	T	T	171509489	G	T	171509489	3	4	80	1	0	0	0	0	1	0	0	0	15333	1368	48	3	1108	3	STK10	5	171509489	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	10380967	171509489	9405771	98	21099											
CCHCR1	54535	genome.wustl.edu	37	chr6	31112472	31112472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaaggctcaccggccttgGcatgctccctccgagcctcg	5	7	12	17	3	1	0	1	0	0	0	4	1	3	0	5	4	2	4	5	4	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:31112472G>A	ENST00000376266.5	-	15	2014	c.1892C>T	c.(1891-1893)gCc>gTc	p.A631V	CCHCR1_ENST00000396268.3_Missense_Mutation_p.A720V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.A578V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.A684V	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	631					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						ACCGGCCTTGGCATGCTCCCT	0.542																																																	0													160	165	164					6																	31112472		2203	4300	6503	SO:0001583	missense	0			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1892C>T	6.37:g.31112472G>A	ENSP00000365442:p.Ala631Val		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.A720V	ENST00000376266.5	37	c.2159	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747496	0.49257	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04502	3.61;3.61;3.61;3.61	5.07	2.1	0.27182	.	0.485095	0.19084	N	0.123149	T	0.02494	0.0076	L	0.54323	1.7	0.24024	N	0.996138	P;P;P;P;P	0.43578	0.565;0.623;0.565;0.811;0.767	P;B;B;B;B	0.45276	0.475;0.418;0.393;0.341;0.439	T	0.41484	-0.9506	10	0.42905	T	0.14	-1.4356	6.8274	0.23891	0.0973:0.3685:0.5342:0.0	.	631;631;631;684;720	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	V	720;631;578;631;684	ENSP00000379566:A720V;ENSP00000365442:A631V;ENSP00000379561:A578V;ENSP00000401039:A684V	ENSP00000365442:A631V	A	-	2	0	CCHCR1	31220451	1.000000	0.71417	0.983000	0.44433	0.703000	0.40648	2.988000	0.49386	0.533000	0.28675	0.448000	0.29417	GCC	CCHCR1	-	pfam_HCR	ENSG00000204536		0.542	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5		0	59	0	G	NM_019052		31112472	-1			no_errors	ENST00000396268	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.770	A	A	31112472	G	A	31112472	3	1	80	1	0	0	0	0	1	0	0	0	2884	1203	42	3	472	3	CCHCR1	6	31112472	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09		31112472	140002595	99	21100											
CCHCR1	54535	genome.wustl.edu	37	chr6	31112959	31112959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaccttgctcccgagcccgGcccacctcctgctggatgag	5	8	11	17	2	0	1	0	1	0	0	2	3	2	2	6	2	4	3	6	2	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:31112959G>A	ENST00000376266.5	-	13	1715	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	CCHCR1_ENST00000396268.3_Silent_p.G620G|CCHCR1_ENST00000396263.2_Silent_p.G478G|CCHCR1_ENST00000451521.2_Silent_p.G584G	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	531					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CCCGAGCCCGGCCCACCTCCT	0.632																																																	0													41	40	41					6																	31112959		1508	2708	4216	SO:0001819	synonymous_variant	0			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"chromosome 6 open reading frame 18"	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.1593C>T	6.37:g.31112959G>A			A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Silent	SNP	pfam_HCR	p.G620	ENST00000376266.5	37	c.1860	CCDS4695.1	6																																																																																			CCHCR1	-	pfam_HCR	ENSG00000204536		0.632	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5		0	56	0	G	NM_019052		31112959	-1			no_errors	ENST00000396268	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	A	A	31112959	G	A	31112959	2	1	80	1	0	0	0	0	0	0	0	1	2884	1190	42	3		3	CCHCR1	6	31112959	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	487	31112959	140002108	100	21101											
HLA-C	3107	genome.wustl.edu	37	chr6	31239424	31239424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttccgcaggctcactcGgtcagcctgtgcctggcgct	4	9	13	15	3	2	0	2	0	0	0	4	0	3	0	3	4	2	4	3	4	0	1	rs41549514		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:31239424G>C	ENST00000376228.5	-	2	309	c.295C>G	c.(295-297)Cga>Gga	p.R99G	HLA-C_ENST00000383329.3_Missense_Mutation_p.R99G	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	99	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGGCTCACTCGGTCAGCCTGT	0.701																																																	0													44	45	44					6																	31239424		1511	2709	4220	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.295C>G	6.37:g.31239424G>C	ENSP00000365402:p.Arg99Gly		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.R99G	ENST00000376228.5	37	c.295	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	11.94|11.94	1.789359|1.789359	0.31685|0.31685	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00014	.|9.2;9.2	2.81|2.81	2.81|2.81	0.32909|0.32909	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.158660	.|0.07190	.|U	.|0.855459	T|T	0.00300|0.00300	0.0009|0.0009	H|H	0.98178|0.98178	4.165|4.165	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.993	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.953	T|T	0.47898|0.47898	-0.9081|-0.9081	5|10	.|0.87932	.|D	.|0	.|.	9.2778|9.2778	0.37709|0.37709	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	rs41549514|rs41549514	.|99;99;99;99	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	R|G	98|99;99;99;136	.|ENSP00000365402:R99G;ENSP00000372819:R99G	.|ENSP00000365402:R99G	P|R	-|-	2|1	0|2	HLA-C|HLA-C	31347403|31347403	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.010000|0.010000	0.07245|0.07245	-0.183000|-0.183000	0.09712|0.09712	1.886000|1.886000	0.54624|0.54624	0.305000|0.305000	0.20034|0.20034	CCG|CGA	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a	ENSG00000204525		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	0	125	0	G	NM_002117		31239424	-1	tier1	rs41549514	no_errors	ENST00000383329	ensembl	human	known	74_37	missense	15.04	113	20	SNP	0.005	C	C	31239424	G	C	31239424	3	2	80	1	0	0	0	0	1	0	0	0	7224	1124	39	5	833	5	HLA-C	6	31239424	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	126465	31239424	139875643	101	21102											
HLA-DPB1	3115	genome.wustl.edu	37	chr6	33048643	33048643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacatcctggaggagaagCgggcagtgccggacaggatg	11	4	18	8	2	0	1	0	0	0	1	1	6	1	5	2	6	2	1	2	6	1	0	rs41554314		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:33048643C>T	ENST00000418931.2	+	2	411	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	HLA-DPA1_ENST00000419277.1_5'Flank|HLA-DPB1_ENST00000535465.1_Missense_Mutation_p.R99W|HLA-DPB1_ENST00000471184.1_3'UTR	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	99	Beta-1.		R -> W (in allele DPB1*94:01; dbSNP:rs41554314).		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GGAGGAGAAGCGGGCAGTGCC	0.682																																																	0													39	41	40					6																	33048643		1510	2708	4218	SO:0001583	missense	0				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.295C>T	6.37:g.33048643C>T	ENSP00000408146:p.Arg99Trp		A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R99W	ENST00000418931.2	37	c.295	CCDS4765.1	6	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216628	0.58452	.	.	ENSG00000223865	ENST00000418931;ENST00000535465;ENST00000411942;ENST00000428835	T;T;T	0.00367	7.77;7.77;7.77	3.93	3.04	0.35103	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.251711	0.28544	U	0.014970	T	0.00608	0.0020	M	0.93939	3.475	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	T	0.27331	-1.0077	10	0.87932	D	0	.	10.9704	0.47436	0.1876:0.8124:0.0:0.0	rs41554314	109;99	Q59GY1;P04440	.;DPB1_HUMAN	W	99;99;99;76	ENSP00000408146:R99W;ENSP00000439674:R99W;ENSP00000412654:R76W	ENSP00000389210:R99W	R	+	1	2	HLA-DPB1	33156621	0.024000	0.19004	0.003000	0.11579	0.003000	0.03518	0.298000	0.19120	0.975000	0.38392	0.579000	0.79373	CGG	HLA-DPB1	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000223865		0.682	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	-	0	121	0	C	NM_002121		33048643	1	tier1	rs41554314	no_errors	ENST00000418931	ensembl	human	known	74_37	missense	5.62	150	9	SNP	0.010	T	T	33048643	C	T	33048643	3	4	80	1	0	0	0	0	1	0	0	0	7230	759	27	1	301	1	HLA-DPB1	6	33048643	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1809219	33048643	138066424	102	21103											
SYNGAP1	8831	genome.wustl.edu	37	chr6	33411523	33411523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtggcgggggccagcCgcctccattgcagaggggca	5	5	20	11	2	0	1	0	0	0	1	1	1	1	1	4	7	2	2	4	7	0	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:33411523C>T	ENST00000418600.2	+	15	3295	c.3194C>T	c.(3193-3195)cCg>cTg	p.P1065L	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.P1065L|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P1006L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1065					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GGGGGCCAGCCGCCTCCATTG	0.677																																																	0													15	20	18					6																	33411523		2189	4278	6467	SO:0001583	missense	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.3194C>T	6.37:g.33411523C>T	ENSP00000403636:p.Pro1065Leu		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.P1065L	ENST00000418600.2	37	c.3194	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577140	0.28092	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.21361	2.01;2.01;2.01	4.09	2.09	0.27110	.	1.804940	0.03324	N	0.192379	T	0.14830	0.0358	L	0.49126	1.545	0.49798	D	0.999829	P;D;P	0.61080	0.95;0.989;0.938	B;P;B	0.48030	0.419;0.564;0.295	T	0.35943	-0.9768	10	0.87932	D	0	.	6.4382	0.21835	0.1917:0.6998:0.0:0.1085	.	1065;1065;1065	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	L	1065;1065;1051;1006	ENSP00000293748:P1065L;ENSP00000403636:P1065L;ENSP00000412475:P1006L	ENSP00000293748:P1065L	P	+	2	0	SYNGAP1	33519501	0.246000	0.23909	0.788000	0.31933	0.848000	0.48234	1.089000	0.30890	0.947000	0.37659	0.484000	0.47621	CCG	SYNGAP1	-	pfam_DUF3498	ENSG00000197283		0.677	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	HGNC	protein_coding	OTTHUMT00000076151.4	-	0	28	0	C	XM_166407		33411523	1	tier1	-	no_errors	ENST00000418600	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.926	T	T	33411523	C	T	33411523	3	4	80	1	0	0	0	0	1	0	0	0	15494	652	23	1	3252	1	SYNGAP1	6	33411523	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	362880	33411523	137703544	103	21104											
PKHD1	5314	genome.wustl.edu	37	chr6	51503711	51503711	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatcaagactgccaagttGtagaagctaacataaccatc	16	8	8	9	0	1	3	1	0	0	3	2	4	1	3	2	0	4	3	2	0	6	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:51503711G>T	ENST00000371117.3	-	64	11717	c.11442C>A	c.(11440-11442)taC>taA	p.Y3814*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3814					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCCAAGTTGTAGAAGCTAA	0.363																																																	0													155	155	155					6																	51503711		2203	4300	6503	SO:0001587	stop_gained	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11442C>A	6.37:g.51503711G>T	ENSP00000360158:p.Tyr3814*		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.Y3814*	ENST00000371117.3	37	c.11442	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	53	20.685980	0.99933	.	.	ENSG00000170927	ENST00000371117	.	.	.	5.7	2.92	0.33932	.	0.161083	0.43919	D	0.000515	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	8.2619	0.31790	0.2442:0.0:0.7558:0.0	.	.	.	.	X	3814	.	ENSP00000360158:Y3814X	Y	-	3	2	PKHD1	51611670	1.000000	0.71417	0.987000	0.45799	0.612000	0.37316	0.693000	0.25497	0.319000	0.23209	0.585000	0.79938	TAC	PKHD1	-	NULL	ENSG00000170927		0.363	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	-	0	57	0	G	NM_138694		51503711	-1	tier1	-	no_errors	ENST00000371117	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	T	T	51503711	G	T	51503711	4	4	80	1	0	0	0	0	0	1	0	0	12010	1372	48	3	798	3	PKHD1	6	51503711	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	18092188	51503711	119611356	104	21105											
RSPH4A	345895	genome.wustl.edu	37	chr6	116938141	116938141	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacgagtgtgattcctGaagctgggacaccttatcct	9	10	11	11	1	0	2	0	2	0	0	2	5	2	4	4	2	1	1	4	2	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:116938141G>T	ENST00000229554.5	+	1	492	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E119*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.E119*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	119					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGTGATTCCTGAAGCTGGGAC	0.537									Kartagener syndrome																																								0													75	77	76					6																	116938141		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"radial spokehead-like 3"	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.355G>T	6.37:g.116938141G>T	ENSP00000229554:p.Glu119*		B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	pfam_Radial_spoke	p.E119*	ENST00000229554.5	37	c.355	CCDS34521.1	6	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627691	0.87560	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	.	.	.	5.53	1.85	0.25348	.	0.932998	0.09014	N	0.861076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-0.0026	7.3894	0.26901	0.3407:0.0:0.6593:0.0	.	.	.	.	X	119	.	ENSP00000229554:E119X	E	+	1	0	RSPH4A	117044834	0.037000	0.19845	0.000000	0.03702	0.016000	0.09150	1.586000	0.36611	0.164000	0.19529	0.655000	0.94253	GAA	RSPH4A	-	NULL	ENSG00000111834		0.537	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1		0	29	0	G	NM_001010892		116938141	1			no_errors	ENST00000229554	ensembl	human	known	74_37	nonsense	7.89	35	3	SNP	0.000	T	T	116938141	G	T	116938141	4	4	80	1	0	0	0	0	0	1	0	0	13751	1291	45	3	357	3	RSPH4A	6	116938141	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	65434430	116938141	54176926	105	21106											
L3MBTL3	84456	genome.wustl.edu	37	chr6	130415492	130415492	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggccatttcaagagagcGagacatctgggccctcacag	11	8	11	11	1	3	2	2	0	1	2	3	4	3	2	2	2	1	0	2	2	1	2	rs143084734	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:130415492G>T	ENST00000529410.1	+	20	2195	c.1716G>T	c.(1714-1716)gcG>gcT	p.A572A	L3MBTL3_ENST00000533560.1_Silent_p.A547A|L3MBTL3_ENST00000368139.2_Silent_p.A547A|L3MBTL3_ENST00000526019.1_Silent_p.A547A|L3MBTL3_ENST00000368136.2_Silent_p.A572A|L3MBTL3_ENST00000361794.2_Silent_p.A572A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	572					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TCAAGAGAGCGAGACATCTGG	0.418																																																	0													77	72	74					6																	130415492		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"Sterile alpha motif (SAM) domain containing"	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1716G>T	6.37:g.130415492G>T			Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.A572	ENST00000529410.1	37	c.1716	CCDS34537.1	6																																																																																			L3MBTL3	-	NULL	ENSG00000198945		0.418	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2		0	50	0	G	XM_027074		130415492	1			no_errors	ENST00000361794	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.015	T	T	130415492	G	T	130415492	2	4	80	1	0	0	0	0	0	0	0	1	8621	1045	37	2		2	L3MBTL3	6	130415492	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	13477351	130415492	40699575	106	21107											
AHI1	54806	genome.wustl.edu	37	chr6	135784408	135784408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagattctttcttttgTtcaccttcaactgtgtcacc	8	17	5	11	0	5	2	3	1	2	1	5	2	5	2	2	0	1	1	2	0	2	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:135784408T>C	ENST00000367800.4	-	6	1002	c.786A>G	c.(784-786)gaA>gaG	p.E262E	AHI1_ENST00000457866.2_Silent_p.E262E|AHI1_ENST00000327035.6_Silent_p.E262E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	262	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTTTCTTTTGTTCACCTTCAA	0.328																																																	0													155	143	147					6																	135784408		1854	4097	5951	SO:0001819	synonymous_variant	0			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.786A>G	6.37:g.135784408T>C			E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.E262	ENST00000367800.4	37	c.786	CCDS47483.1	6																																																																																			AHI1	-	NULL	ENSG00000135541		0.328	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	-	0	30	0	T	NM_017651		135784408	-1	tier1	-	no_errors	ENST00000265602	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.976	C	C	135784408	T	C	135784408	2	2	80	1	0	0	0	0	0	0	0	1	413	1722	60	4		4	AHI1	6	135784408	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	5368916	135784408	35330659	107	21108											
ARID1B	57492	genome.wustl.edu	37	chr6	157528847	157528847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcccctggaaccacctaGcgtagacatgatgtgcaggg	9	6	12	14	2	0	2	0	1	0	1	0	3	0	3	5	2	3	2	5	2	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:157528847G>A	ENST00000350026.5	+	19	6534	c.6533G>A	c.(6532-6534)aGc>aAc	p.S2178N	ARID1B_ENST00000275248.4_Missense_Mutation_p.S2173N|ARID1B_ENST00000367148.1_Missense_Mutation_p.S2231N|ARID1B_ENST00000346085.5_Missense_Mutation_p.S2191N	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2178					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GAACCACCTAGCGTAGACATG	0.582																																																	0													93	87	89					6																	157528847		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6533G>A	6.37:g.157528847G>A	ENSP00000055163:p.Ser2178Asn		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S2231N	ENST00000350026.5	37	c.6692	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338093	0.41398	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.61	5.61	0.85477	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.65523	0.2699	M	0.83012	2.62	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.83275	0.996;0.994;0.994	T	0.69094	-0.5236	10	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	2178;2191;2173	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	N	2191;2178;2231;2173;1700	ENSP00000344546:S2191N;ENSP00000055163:S2178N;ENSP00000356116:S2231N;ENSP00000275248:S2173N;ENSP00000412835:S1700N	ENSP00000275248:S2173N	S	+	2	0	ARID1B	157570539	1.000000	0.71417	0.994000	0.49952	0.502000	0.33828	9.803000	0.99136	2.793000	0.96121	0.655000	0.94253	AGC	ARID1B	-	pfam_DUF3518,superfamily_ARM-type_fold	ENSG00000049618		0.582	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	46	0	G	NM_020732		157528847	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A	A	157528847	G	A	157528847	3	1	80	1	0	0	0	0	1	0	0	0	914	971	34	3	6650	3	ARID1B	6	157528847	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	21744439	157528847	13586220	108	21109											
PDE10A	10846	genome.wustl.edu	37	chr6	165801869	165801869	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggccagagggtggtcgaacTtctgcaggtagctgttactg	7	10	15	9	2	1	1	0	0	1	1	2	2	1	1	1	4	4	4	1	4	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr6:165801869T>G	ENST00000366882.1	-	18	1854	c.1700A>C	c.(1699-1701)aAg>aCg	p.K567T	PDE10A_ENST00000539869.2_Missense_Mutation_p.K577T|PDE10A_ENST00000354448.4_Missense_Mutation_p.K567T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	567					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGTCGAACTTCTGCAGGTA	0.532																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													142	118	126					6																	165801869		2203	4300	6503	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1700A>C	6.37:g.165801869T>G	ENSP00000355847:p.Lys567Thr		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.K577T	ENST00000366882.1	37	c.1730		6	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266769	0.59540	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.79033	-1.23;-1.23	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	M	0.65975	2.015	0.80722	D	1	D;P	0.71674	0.998;0.535	D;B	0.79784	0.993;0.414	D	0.85820	0.1385	10	0.59425	D	0.04	.	16.3109	0.82869	0.0:0.0:0.0:1.0	.	577;567	Q9ULW9;Q9Y233	.;PDE10_HUMAN	T	567;595;577;567;566	ENSP00000355847:K567T;ENSP00000346435:K567T	ENSP00000341187:K577T	K	-	2	0	PDE10A	165721859	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.409000	0.80053	2.257000	0.74773	0.460000	0.39030	AAG	PDE10A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	ENSG00000112541		0.532	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	-	0	47	0	T			165801869	-1	tier1	-	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	48.28	15	14	SNP	1.000	G	G	165801869	T	G	165801869	3	3	80	1	0	0	0	0	1	0	0	0	11669	1609	56	4	663	4	PDE10A	6	165801869	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	8273022	165801869	5313198	109	21110											
PRKAR1B	5575	genome.wustl.edu	37	chr7	720328	720328	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtccgactgtgagttTgacttttgccgcgccaaaat	8	12	12	9	3	0	2	0	2	0	0	1	4	1	3	3	1	1	1	3	1	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr7:720328T>C	ENST00000406797.1	-	3	387	c.213A>G	c.(211-213)tcA>tcG	p.S71S	PRKAR1B_ENST00000544935.1_Silent_p.S71S|PRKAR1B_ENST00000360274.4_Silent_p.S71S|PRKAR1B_ENST00000537384.1_Silent_p.S71S|PRKAR1B_ENST00000403562.1_Silent_p.S71S	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	71	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACTGTGAGTTTGACTTTTGCC	0.612																																																	0													86	82	84					7																	720328		2203	4300	6503	SO:0001819	synonymous_variant	0			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.213A>G	7.37:g.720328T>C			Q8N422	Silent	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.S71	ENST00000406797.1	37	c.213	CCDS34579.1	7																																																																																			PRKAR1B	-	pirsf_cAMP_dep_PK_reg_su	ENSG00000188191		0.612	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1		0	40	0	T			720328	-1			no_errors	ENST00000360274	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.415	C	C	720328	T	C	720328	2	2	80	1	0	0	0	0	0	0	0	1	12546	1799	63	4		4	PRKAR1B	7	720328	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09		720328	158418335	110	21111											
BMPER	168667	genome.wustl.edu	37	chr7	34118668	34118668	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggagctggtgctgggCgagagcagggtcagcctgca	6	7	19	9	2	1	1	1	0	0	1	2	3	1	2	1	5	5	4	1	5	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr7:34118668C>T	ENST00000297161.2	+	13	1652	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	BMPER_ENST00000426693.1_Silent_p.G426G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	426	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGGTGCTGGGCGAGAGCAGGG	0.682																																																	0													76	77	77					7																	34118668		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1278C>T	7.37:g.34118668C>T			A8K1P8|Q8TF36	Silent	SNP	pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C	p.G426	ENST00000297161.2	37	c.1278	CCDS5442.1	7																																																																																			BMPER	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000164619		0.682	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	HGNC	protein_coding	OTTHUMT00000250570.2	-	0	47	0	C	NM_133468		34118668	1	tier1	-	no_errors	ENST00000297161	ensembl	human	known	74_37	silent	53.66	19	22	SNP	0.115	T	T	34118668	C	T	34118668	2	4	80	1	0	0	0	0	0	0	0	1	1470	755	27	1		1	BMPER	7	34118668	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	33398340	34118668	125019995	111	21112											
EIF4H	7458	genome.wustl.edu	37	chr7	73604164	73604164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcattagctgttgggcgatCggtcacttcgtgtggacatt	7	14	12	8	3	2	0	2	0	0	0	4	2	2	1	0	3	1	2	0	3	1	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr7:73604164C>T	ENST00000265753.8	+	4	464	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	MIR590_ENST00000385008.1_RNA|EIF4H_ENST00000353999.6_Missense_Mutation_p.R109W|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	109	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						GTTGGGCGATCGGTCACTTCG	0.423																																																	0													128	118	121					7																	73604164		2203	4300	6503	SO:0001583	missense	0				CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"RNA binding motif (RRM) containing"	12741	protein-coding gene	gene with protein product		603431	"Williams-Beuren syndrome chromosome region 1"	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.325C>T	7.37:g.73604164C>T	ENSP00000265753:p.Arg109Trp		A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R109W	ENST00000265753.8	37	c.325	CCDS5564.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277581	0.80580	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.79845	-1.31;-1.31	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.983;0.973;0.997;0.981	D	0.94717	0.7897	10	0.87932	D	0	-3.9447	18.2076	0.89859	0.0:1.0:0.0:0.0	.	109;109;109;109	B4DMV6;Q75MU2;Q15056-2;Q15056	.;.;.;IF4H_HUMAN	W	109	ENSP00000265753:R109W;ENSP00000265754:R109W	ENSP00000265753:R109W	R	+	1	2	EIF4H	73242100	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.958000	0.49145	2.647000	0.89833	0.655000	0.94253	CGG	EIF4H	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000106682		0.423	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4H	HGNC	protein_coding	OTTHUMT00000252375.2		0	52	0	C	NM_022170		73604164	1			no_errors	ENST00000265753	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T	T	73604164	C	T	73604164	3	4	80	1	0	0	0	0	1	0	0	0	5055	875	31	1	339	1	EIF4H	7	73604164	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	39485496	73604164	85534499	112	21113											
MLL5	55904	genome.wustl.edu	37	chr7	104746087	104746087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttacttcaccattcctttcaGaaaaaaggagaagaaaagaa	19	9	6	7	0	2	4	2	0	0	4	3	5	3	4	2	1	1	0	2	1	8	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr7:104746087G>A	ENST00000311117.3	+	18	2943	c.2398G>A	c.(2398-2400)Gaa>Aaa	p.E800K	KMT2E_ENST00000257745.4_Missense_Mutation_p.E800K|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.E800K|KMT2E_ENST00000334914.7_5'UTR	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	800					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATTCCTTTCAGAAAAAAGGAG	0.363																																																	0													86	86	86					7																	104746087		2202	4300	6502	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2398G>A	7.37:g.104746087G>A	ENSP00000312379:p.Glu800Lys		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.E800K	ENST00000311117.3	37	c.2398	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133530	0.77662	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93133	-3.17;-2.74;-3.17	6.04	6.04	0.98038	.	0.156527	0.56097	D	0.000025	D	0.91012	0.7173	L	0.48642	1.525	0.80722	D	1	P	0.43094	0.799	B	0.35931	0.214	D	0.91294	0.5061	10	0.62326	D	0.03	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	800	Q8IZD2	MLL5_HUMAN	K	800;800;800;720;800	ENSP00000312379:E800K;ENSP00000335599:E800K;ENSP00000257745:E800K	ENSP00000257745:E800K	E	+	1	0	MLL5	104533323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.626000	0.90969	2.873000	0.98535	0.563000	0.77884	GAA	KMT2E	-	NULL	ENSG00000005483		0.363	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1		0	42	0	G			104746087	1			no_errors	ENST00000257745	ensembl	human	known	74_37	missense	5.41	34	2	SNP	1.000	A	A	104746087	G	A	104746087	3	1	80	1	0	0	0	0	1	0	0	0	9662	943	33	3	2460	3	MLL5	7	104746087	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	31141923	104746087	54392576	113	21114											
PPP1R3A	5506	genome.wustl.edu	37	chr7	113520081	113520081	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggatttgcttcttctctaAcccctctgctttatttggaa	7	18	6	10	0	3	0	0	0	3	0	4	2	3	2	2	2	3	2	2	2	3	7			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr7:113520081A>C	ENST00000284601.3	-	4	1134	c.1066T>G	c.(1066-1068)Tta>Gta	p.L356V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	356					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCTTCTCTAACCCCTCTGCT	0.378																																																	0													181	180	180					7																	113520081		2203	4300	6503	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1066T>G	7.37:g.113520081A>C	ENSP00000284601:p.Leu356Val		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.L356V	ENST00000284601.3	37	c.1066	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735951	0.30774	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.39997	2.21;1.05	5.51	3.14	0.36123	.	0.856438	0.09927	N	0.737685	T	0.46889	0.1416	M	0.65975	2.015	0.09310	N	0.999995	P	0.52463	0.953	P	0.47603	0.551	T	0.27400	-1.0075	10	0.44086	T	0.13	-2.2676	8.0133	0.30365	0.7733:0.0:0.2267:0.0	.	356	Q16821	PPR3A_HUMAN	V	356;35	ENSP00000284601:L356V;ENSP00000401278:L35V	ENSP00000284601:L356V	L	-	1	2	PPP1R3A	113307317	0.117000	0.22190	0.488000	0.27440	0.210000	0.24377	0.420000	0.21263	0.478000	0.27488	-0.280000	0.10049	TTA	PPP1R3A	-	NULL	ENSG00000154415		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0	74	0	A	NM_002711		113520081	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	44.74	20	17	SNP	0.346	C	C	113520081	A	C	113520081	3	2	80	1	0	0	0	0	1	0	0	0	12413	40	2	4	2306	4	PPP1R3A	7	113520081	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	8773994	113520081	45618582	114	21115											
CHRM2	1129	genome.wustl.edu	37	chr7	136700814	136700814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctttcatcatcacttgggCcccatacaatgtcatggtgc	8	12	9	12	0	4	0	4	0	0	0	4	0	4	0	2	3	2	1	2	3	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr7:136700814C>T	ENST00000445907.2	+	3	1730	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A401V|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A401V|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A401V|CHRM2_ENST00000320658.5_Missense_Mutation_p.A401V|CHRM2_ENST00000402486.3_Missense_Mutation_p.A401V|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	401					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATCACTTGGGCCCCATACAAT	0.463																																																	0													201	170	181					7																	136700814		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1202C>T	7.37:g.136700814C>T	ENSP00000399745:p.Ala401Val		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.A401V	ENST00000445907.2	37	c.1202	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932219	0.52866	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.049152	0.85682	D	0.000000	T	0.55449	0.1921	N	0.12961	0.28	0.42059	D	0.991154	B	0.19445	0.036	B	0.25987	0.065	T	0.54296	-0.8315	10	0.05351	T	0.99	-17.4833	20.2985	0.98592	0.0:1.0:0.0:0.0	.	401	P08172	ACM2_HUMAN	V	401	ENSP00000399745:A401V;ENSP00000415386:A401V;ENSP00000319984:A401V;ENSP00000380733:A401V;ENSP00000384937:A401V;ENSP00000384401:A401V	ENSP00000319984:A401V	A	+	2	0	CHRM2	136351354	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.044000	0.71012	2.793000	0.96121	0.655000	0.94253	GCC	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181072		0.463	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	38	0	C			136700814	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	T	T	136700814	C	T	136700814	3	4	80	1	0	0	0	0	1	0	0	0	3384	739	26	3	1204	3	CHRM2	7	136700814	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	23180733	136700814	22437849	115	21116											
SSPO	23145	genome.wustl.edu	37	chr7	149484958	149484959	+	RNA	INS	-	-	G																															tcctcccacagctgcgactcINSggggggtgactgtgagtgcc																								rs112418142	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr7:149484958_149484959insG	ENST00000378016.2	+	0	3713_3714							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTGCGACTCGGGGGGTGACT	0.644																																																	0																																												0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484964_149484964dupG			Q76B61	RNA	INS	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.644	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0	80	0	-			149484959	1	tier1		no_errors	ENST00000262089	ensembl	human	known	74_37	rna	41.03	23	16	INS	1.000:0.010	G	G	149484959	-	G	149484958	6	5	80	0	1	1	1	0	0	0	0	0	15236	893	31	0		0	SSPO	7	149484958	RNA	INS	-	TCGA-L5-A8NF-01A-11D-A37C-09	12784144	149484958	9653705	116	21117											
EXTL3	2137	genome.wustl.edu	37	chr8	28608307	28608307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatgcccctcctgtacaCgcagttcagggtggattctg	7	11	10	13	1	2	0	1	0	1	0	3	1	3	1	3	2	3	3	3	2	2	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:28608307C>T	ENST00000220562.4	+	7	3586	c.2684C>T	c.(2683-2685)aCg>aTg	p.T895M	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.T511M	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	895					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CTCCTGTACACGCAGTTCAGG	0.562																																																	0													209	158	175					8																	28608307		2203	4300	6503	SO:0001583	missense	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"Exostosin glycosyltransferase family"	3518	protein-coding gene	gene with protein product	"REG receptor", "glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"	605744	"exostoses (multiple)-like 3"			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2684C>T	8.37:g.28608307C>T	ENSP00000220562:p.Thr895Met		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.T895M	ENST00000220562.4	37	c.2684	CCDS6070.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.066784	0.93898	.	.	ENSG00000012232	ENST00000523149;ENST00000220562	D;D	0.86432	-2.12;-2.12	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94543	0.7747	10	0.87932	D	0	-23.1011	19.6401	0.95754	0.0:1.0:0.0:0.0	.	895	O43909	EXTL3_HUMAN	M	511;895	ENSP00000428691:T511M;ENSP00000220562:T895M	ENSP00000220562:T895M	T	+	2	0	EXTL3	28664226	1.000000	0.71417	0.953000	0.39169	0.964000	0.63967	7.574000	0.82434	2.643000	0.89663	0.555000	0.69702	ACG	EXTL3	-	pfam_HexNAc_Trfase_a	ENSG00000012232		0.562	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3		0	32	0	C	NM_001440		28608307	1			no_errors	ENST00000220562	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	28608307	C	T	28608307	3	4	80	1	0	0	0	0	1	0	0	0	5343	536	19	1	2702	1	EXTL3	8	28608307	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		28608307	117755715	117	21118											
MYST3	7994	genome.wustl.edu	37	chr8	41838370	41838370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagtatttctcaccttttgGcatacgggtgagtggcggat	9	13	12	7	2	1	1	1	1	1	0	2	2	1	2	1	4	1	2	1	4	3	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:41838370G>A	ENST00000396930.3	-	6	1444	c.901C>T	c.(901-903)Cca>Tca	p.P301S	KAT6A_ENST00000406337.1_Missense_Mutation_p.P301S|KAT6A_ENST00000485568.1_Missense_Mutation_p.P301S|KAT6A_ENST00000265713.2_Missense_Mutation_p.P301S	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	301	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCACCTTTTGGCATACGGGTG	0.353																																																	0													146	153	150					8																	41838370		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.901C>T	8.37:g.41838370G>A	ENSP00000380136:p.Pro301Ser		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P301S	ENST00000396930.3	37	c.901	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079928	0.55753	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.52	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000002	D	0.95014	0.8386	M	0.82716	2.605	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95311	0.8412	10	0.72032	D	0.01	-16.8541	19.205	0.93726	0.0:0.0:1.0:0.0	.	301;301	A5PLL3;Q92794	.;KAT6A_HUMAN	S	301	ENSP00000265713:P301S;ENSP00000385888:P301S;ENSP00000380136:P301S;ENSP00000430606:P301S	ENSP00000265713:P301S	P	-	1	0	KAT6A	41957527	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.596000	0.87737	0.563000	0.77884	CCA	KAT6A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000083168		0.353	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0	56	0	G	NM_006766		41838370	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A	A	41838370	G	A	41838370	3	1	80	1	0	0	0	0	1	0	0	0	10142	1203	42	3	5165	3	MYST3	8	41838370	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	13230063	41838370	104525652	118	21119											
KIAA0146	23514	genome.wustl.edu	37	chr8	48353023	48353023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctcccaggcctggagctgGcctgaaagttctcttcacca	7	9	11	14	0	2	1	1	1	1	0	4	2	3	2	4	4	1	3	4	4	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:48353023G>T	ENST00000297423.4	+	8	1400	c.1016G>T	c.(1015-1017)gGc>gTc	p.G339V	SPIDR_ENST00000518074.1_Missense_Mutation_p.G279V|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.G269V	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	339	Necessary for interaction with RAD51.				cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											CCTGGAGCTGGCCTGAAAGTT	0.582																																																	0													50	53	52					8																	48353023		1948	4142	6090	SO:0001583	missense	0			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"KIAA0146"	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.1016G>T	8.37:g.48353023G>T	ENSP00000297423:p.Gly339Val		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.G339V	ENST00000297423.4	37	c.1016	CCDS43737.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.021|0.021	-1.428406|-1.428406	0.01117|0.01117	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000519401|ENST00000297423;ENST00000518074;ENST00000541342;ENST00000524006	.|.	.|.	.|.	4.12|4.12	-4.72|-4.72	0.03269|0.03269	.|.	.|2.317920	.|0.01523	.|N	.|0.018457	T|T	0.27663|0.27663	0.0680|0.0680	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.26876	.|0.162;0.119;0.063;0.119	.|B;B;B;B	.|0.23574	.|0.038;0.047;0.022;0.047	T|T	0.07693|0.07693	-1.0759|-1.0759	5|9	.|0.17369	.|T	.|0.5	.|.	5.8456|5.8456	0.18663|0.18663	0.5458:0.0:0.3213:0.1329|0.5458:0.0:0.3213:0.1329	.|.	.|279;269;339;339	.|B4E0Y6;B4DFV2;B4DEV5;Q14159	.|.;.;.;K0146_HUMAN	S|V	21|339;279;269;28	.|.	.|ENSP00000297423:G339V	A|G	+|+	1|2	0|0	KIAA0146|KIAA0146	48515576|48515576	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.026000|0.026000	0.11368|0.11368	-0.432000|-0.432000	0.06956|0.06956	-0.996000|-0.996000	0.03455|0.03455	-0.345000|-0.345000	0.07892|0.07892	GCC|GGC	SPIDR	-	NULL	ENSG00000164808		0.582	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIDR	HGNC	protein_coding	OTTHUMT00000377611.1		0	48	0	G	NM_001080394		48353023	1			no_errors	ENST00000297423	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	T	T	48353023	G	T	48353023	3	4	80	1	0	0	0	0	1	0	0	0	8184	1203	42	3	1046	3	KIAA0146	8	48353023	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6514653	48353023	98010999	119	21120											
CHD7	55636	genome.wustl.edu	37	chr8	61761705	61761705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctcttaattggagtgtTcaaacatggtaagtgacgtt	11	14	9	7	1	2	1	1	1	1	0	3	2	3	2	1	2	1	3	1	2	3	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:61761705T>C	ENST00000423902.2	+	25	5875	c.5396T>C	c.(5395-5397)tTc>tCc	p.F1799S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1799					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F1799Y(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ATTGGAGTGTTCAAACATGGT	0.393																																																	2	Substitution - Missense(2)	prostate(2)											196	189	191					8																	61761705		1894	4117	6011	SO:0001583	missense	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.5396T>C	8.37:g.61761705T>C	ENSP00000392028:p.Phe1799Ser		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.F1799S	ENST00000423902.2	37	c.5396	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728352	0.30593	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.90563	-2.69	5.87	4.68	0.58851	.	0.066103	0.64402	D	0.000011	D	0.88444	0.6438	L	0.49455	1.56	0.58432	D	0.999992	B	0.25390	0.125	B	0.31495	0.131	D	0.87393	0.2364	10	0.87932	D	0	-14.2333	12.7339	0.57212	0.1477:0.0:0.0:0.8522	.	1799	Q9P2D1	CHD7_HUMAN	S	1799	ENSP00000392028:F1799S	ENSP00000307304:F1799S	F	+	2	0	CHD7	61924259	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.105000	0.57797	2.242000	0.73789	0.528000	0.53228	TTC	CHD7	-	NULL	ENSG00000171316		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2		0	42	0	T	XM_098762		61761705	1			no_errors	ENST00000423902	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	C	C	61761705	T	C	61761705	3	2	80	1	0	0	0	0	1	0	0	0	3337	1783	62	4	5490	4	CHD7	8	61761705	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	13408682	61761705	84602317	120	21121											
TRIM55	84675	genome.wustl.edu	37	chr8	67062681	67062681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaagaaaagataatacGtgaaattgacttttacagag	19	10	9	3	1	0	6	0	2	0	4	0	7	0	6	0	0	2	0	0	0	8	6	rs145295575		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:67062681G>T	ENST00000315962.4	+	7	1338	c.965G>T	c.(964-966)cGt>cTt	p.R322L	TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Missense_Mutation_p.R322L|TRIM55_ENST00000276573.7_Missense_Mutation_p.R322L	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	322	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.R322H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AAGATAATACGTGAAATTGAC	0.428																																																	1	Substitution - Missense(1)	skin(1)											97	93	94					8																	67062681		2203	4300	6503	SO:0001583	missense	0			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	14215	protein-coding gene	gene with protein product		606469	"ring finger protein 29", "tripartite motif-containing 55"	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.965G>T	8.37:g.67062681G>T	ENSP00000323913:p.Arg322Leu		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.R322L	ENST00000315962.4	37	c.965	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597515	0.66332	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.31769	1.48;1.55;1.49	5.84	5.84	0.93424	COS domain (1);	0.106278	0.64402	D	0.000003	T	0.35537	0.0935	L	0.52266	1.64	0.80722	D	1	B;B;B	0.31640	0.178;0.225;0.333	B;B;B	0.33846	0.109;0.083;0.171	T	0.07009	-1.0795	10	0.48119	T	0.1	.	20.1535	0.98095	0.0:0.0:1.0:0.0	.	322;322;322	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	L	322	ENSP00000323913:R322L;ENSP00000297348:R322L;ENSP00000276573:R322L	ENSP00000276573:R322L	R	+	2	0	TRIM55	67225235	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.785000	0.85724	2.764000	0.94973	0.650000	0.86243	CGT	TRIM55	-	NULL	ENSG00000147573		0.428	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1		0	63	0	G	NM_184085		67062681	1			no_errors	ENST00000315962	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	67062681	G	T	67062681	3	4	80	1	0	0	0	0	1	0	0	0	16577	1145	40	2	991	2	TRIM55	8	67062681	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5300976	67062681	79301341	121	21122											
SLC10A5	347051	genome.wustl.edu	37	chr8	82606431	82606431	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacctgacaaccctaatatCctactgtatatataagaatt	15	13	4	9	0	0	2	0	1	0	1	1	2	1	2	3	0	3	2	3	0	10	9			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:82606431C>T	ENST00000518568.1	-	1	1978	c.777G>A	c.(775-777)agG>agA	p.R259R		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	259						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ACCCTAATATCCTACTGTATA	0.368																																																	0													71	75	73					8																	82606431		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"Solute carriers"	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.777G>A	8.37:g.82606431C>T			B2RN26	Silent	SNP	pfam_BilAc/Na_symport	p.R259	ENST00000518568.1	37	c.777	CCDS34915.1	8																																																																																			SLC10A5	-	pfam_BilAc/Na_symport	ENSG00000253598		0.368	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A5	HGNC	protein_coding	OTTHUMT00000379736.1	-	0	35	0	C	XM_294493		82606431	-1	tier1	-	no_errors	ENST00000518568	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.002	T	T	82606431	C	T	82606431	2	4	80	1	0	0	0	0	0	0	0	1	14422	854	30	3		3	SLC10A5	8	82606431	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	15543750	82606431	63757591	122	21123											
MMP16	4325	genome.wustl.edu	37	chr8	89339430	89339430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtgctgaatgtgagtaaGatcatagtgaactgtgcttc	11	12	11	7	0	1	4	1	3	0	1	2	4	1	4	1	0	3	3	1	0	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:89339430G>A	ENST00000286614.6	-	1	287	c.6C>T	c.(4-6)atC>atT	p.I2I	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA|RP11-586K2.1_ENST00000520849.1_RNA|RP11-586K2.1_ENST00000521433.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	2					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.I2I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATGTGAGTAAGATCATAGTGA	0.473																																																	1	Substitution - coding silent(1)	lung(1)											167	149	155					8																	89339430		2203	4300	6503	SO:0001819	synonymous_variant	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.6C>T	8.37:g.89339430G>A			B2RAN7|Q14824|Q52H48	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.I2	ENST00000286614.6	37	c.6	CCDS6246.1	8																																																																																			MMP16	-	NULL	ENSG00000156103		0.473	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	62	0	G	NM_005941		89339430	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	silent	11.36	39	5	SNP	1.000	A	A	89339430	G	A	89339430	2	1	80	1	0	0	0	0	0	0	0	1	9693	932	33	3		3	MMP16	8	89339430	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6732999	89339430	57024592	123	21124											
INTS8	55656	genome.wustl.edu	37	chr8	95850846	95850846	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatctggcaactatcaGgtaaggtgtatgagggggat	11	11	15	4	0	2	2	1	2	1	1	2	4	2	3	0	5	1	3	0	5	4	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:95850846G>T	ENST00000523731.1	+	8	1150	c.1017G>T	c.(1015-1017)caG>caT	p.Q339H	INTS8_ENST00000447247.1_Splice_Site_p.Q339H	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	339					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GCAACTATCAGGTAAGGTGTA	0.423																																																	0													128	118	121					8																	95850846		2203	4300	6503	SO:0001630	splice_region_variant	0			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"chromosome 8 open reading frame 52"	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1017+1G>T	8.37:g.95850846G>T			B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.Q339H	ENST00000523731.1	37	c.1017	CCDS34925.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.255129|4.255129	0.80135|0.80135	.|.	.|.	ENSG00000164941|ENSG00000164941	ENST00000523731;ENST00000447247|ENST00000520526	.|.	.|.	.|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.157039|.	0.64402|.	D|.	0.000015|.	T|T	0.71542|0.71542	0.3352|0.3352	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;P|.	0.54207|.	0.965;0.729|.	P;P|.	0.53313|.	0.723;0.653|.	T|T	0.68303|0.68303	-0.5444|-0.5444	9|5	0.54805|.	T|.	0.06|.	-1.8886|-1.8886	19.2018|19.2018	0.93714|0.93714	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	339;339|.	Q75QN2;Q75QN2-2|.	INT8_HUMAN;.|.	H|M	339|161	.|.	ENSP00000343274:Q339H|.	Q|R	+|+	3|2	2|0	INTS8|INTS8	95920022|95920022	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	8.014000|8.014000	0.88676|0.88676	2.522000|2.522000	0.85027|0.85027	0.491000|0.491000	0.48974|0.48974	CAG|AGG	INTS8	-	NULL	ENSG00000164941		0.423	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1		0	29	0	G	NM_017864	Missense_Mutation	95850846	1			no_errors	ENST00000523731	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	95850846	G	T	95850846	5	4	80	1	0	0	0	0	0	0	1	0	7811	1014	35	3	1047	3	INTS8	8	95850846	Splice_Site	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6511416	95850846	50513176	124	21125											
COL14A1	7373	genome.wustl.edu	37	chr8	121293235	121293235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggtttctatggagcctgGtaccttcaatgtgtttccat	7	15	11	8	0	2	0	1	0	1	0	3	1	3	1	3	4	2	3	3	4	3	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:121293235G>C	ENST00000297848.3	+	31	4031	c.3761G>C	c.(3760-3762)gGt>gCt	p.G1254A	COL14A1_ENST00000247781.3_Missense_Mutation_p.G1159A|COL14A1_ENST00000309791.4_Missense_Mutation_p.G1254A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATGGAGCCTGGTACCTTCAAT	0.358																																																	0													92	96	95					8																	121293235		2203	4300	6503	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3761G>C	8.37:g.121293235G>C	ENSP00000297848:p.Gly1254Ala			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G1254A	ENST00000297848.3	37	c.3761	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248404	0.80024	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.03772	3.81;3.81;3.81	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.00113	-1.2042	10	0.54805	T	0.06	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	1254	Q05707	COEA1_HUMAN	A	1254;1254;1159	ENSP00000311809:G1254A;ENSP00000297848:G1254A;ENSP00000247781:G1159A	ENSP00000247781:G1159A	G	+	2	0	COL14A1	121362416	1.000000	0.71417	0.999000	0.59377	0.521000	0.34408	9.837000	0.99465	2.802000	0.96397	0.650000	0.86243	GGT	COL14A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000187955		0.358	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	79	0	G	NM_021110		121293235	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	7.14	76	6	SNP	1.000	C	C	121293235	G	C	121293235	3	2	80	1	0	0	0	0	1	0	0	0	3678	1261	44	5	3879	5	COL14A1	8	121293235	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	25442389	121293235	25070787	125	21126											
PPP1R16A	84988	genome.wustl.edu	37	chr8	145724303	145724303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcacggtttgcagtgctGcattgatgatttccgagaga	8	12	14	7	2	0	3	0	2	0	1	1	5	1	3	1	2	3	5	1	2	0	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr8:145724303G>A	ENST00000292539.4	+	4	1252	c.335G>A	c.(334-336)tGc>tAc	p.C112Y	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.C112Y			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	112						plasma membrane (GO:0005886)		p.C112Y(1)		NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTGCAGTGCTGCATTGATGAT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											65	54	58					8																	145724303		2203	4300	6503	SO:0001583	missense	0				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14941	protein-coding gene	gene with protein product		609172	"protein phosphatase 1, regulatory (inhibitor) subunit 16A"			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.335G>A	8.37:g.145724303G>A	ENSP00000292539:p.Cys112Tyr		D3DWM5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.C112Y	ENST00000292539.4	37	c.335	CCDS6429.1	8	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.8|20.8|20.8	4.055449|4.055449|4.055449	0.75960|0.75960|0.75960	.|.|.	.|.|.	ENSG00000255182|ENSG00000160972|ENSG00000255182	ENST00000532766|ENST00000292539;ENST00000435887|ENST00000527086	.|T;T|.	.|0.64803|.	.|-0.12;-0.12|.	4.76|4.76|4.76	4.76|4.76|4.76	0.60689|0.60689|0.60689	.|Ankyrin repeat-containing domain (4);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|.	0.83547|0.83547|.	0.5278|0.5278|.	M|M|M	0.90814|0.90814|0.90814	3.15|3.15|3.15	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.87578|.	.|0.998|.	D|D|.	0.87601|0.87601|.	0.2497|0.2497|.	6|10|.	0.87932|0.87932|0.87932	D|D|D	0|0|0	.|.|.	15.2564|15.2564|15.2564	0.73588|0.73588|0.73588	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|112|.	.|Q96I34|.	.|PP16A_HUMAN|.	V|Y|X	31|112|46	.|ENSP00000292539:C112Y;ENSP00000391126:C112Y|.	ENSP00000435686:A31V|ENSP00000292539:C112Y|ENSP00000437304:Q46X	A|C|Q	-|+|-	2|2|1	0|0|0	CTD-2517M22.14|PPP1R16A|CTD-2517M22.14	145695111|145695111|145695111	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.555000|0.555000|0.555000	0.35460|0.35460|0.35460	5.314000|5.314000|5.314000	0.65804|0.65804|0.65804	2.198000|2.198000|2.198000	0.70561|0.70561|0.70561	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GCA|TGC|CAG	PPP1R16A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000160972		0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	HGNC	protein_coding	OTTHUMT00000382459.1		0	35	0	G	NM_032902		145724303	1			no_errors	ENST00000292539	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	145724303	G	A	145724303	3	1	80	1	0	0	0	0	1	0	0	0	12407	1319	46	3	345	3	PPP1R16A	8	145724303	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	24431068	145724303	639719	126	21127											
KDM4C	23081	genome.wustl.edu	37	chr9	7011779	7011779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccacctttggcagaCgaagtcccctaacttcgcag	9	10	7	15	2	1	1	1	0	1	1	5	2	3	1	4	1	1	2	4	1	2	3	rs144567752		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr9:7011779C>G	ENST00000381309.3	+	13	2433	c.1868C>G	c.(1867-1869)aCg>aGg	p.T623R	KDM4C_ENST00000428870.2_Missense_Mutation_p.T310R|KDM4C_ENST00000442236.2_Missense_Mutation_p.T368R|KDM4C_ENST00000543771.1_Missense_Mutation_p.T623R|KDM4C_ENST00000381306.3_Missense_Mutation_p.T623R|KDM4C_ENST00000535193.1_Missense_Mutation_p.T645R|KDM4C_ENST00000536108.1_Missense_Mutation_p.T442R	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	623					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CTTTGGCAGACGAAGTCCCCT	0.517																																																	0													102	95	97					9																	7011779		2203	4300	6503	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1868C>G	9.37:g.7011779C>G	ENSP00000370710:p.Thr623Arg		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.T623R	ENST00000381309.3	37	c.1868	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697864	0.68386	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.76	4.83	0.62350	.	0.219510	0.45606	D	0.000348	T	0.59865	0.2225	L	0.60455	1.87	0.50813	D	0.999894	D;D;D;P;P	0.69078	0.984;0.997;0.988;0.759;0.91	P;P;P;B;P	0.61070	0.691;0.883;0.789;0.245;0.624	T	0.61964	-0.6954	10	0.72032	D	0.01	-26.9629	12.4732	0.55799	0.1318:0.7413:0.1269:0.0	.	368;623;645;623;623	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	R	645;623;623;623;368;442;310	ENSP00000442382:T645R;ENSP00000445427:T623R;ENSP00000370710:T623R;ENSP00000370707:T623R;ENSP00000409353:T368R;ENSP00000440656:T442R;ENSP00000405739:T310R	ENSP00000370707:T623R	T	+	2	0	KDM4C	7001779	0.904000	0.30761	0.965000	0.40720	0.869000	0.49853	1.841000	0.39240	2.713000	0.92767	0.655000	0.94253	ACG	KDM4C	-	NULL	ENSG00000107077		0.517	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1		0	59	0	C	NM_015061		7011779	1			no_errors	ENST00000381309	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.879	G	G	7011779	C	G	7011779	3	3	80	1	0	0	0	0	1	0	0	0	8157	536	19	5	1984	5	KDM4C	9	7011779	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		7011779	134201652	127	21128											
ADAMTSL1	92949	genome.wustl.edu	37	chr9	18775775	18775775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaaggcacccagactcGaagcgccatttgccgaaaga	12	4	13	12	4	0	2	0	0	0	2	1	5	0	3	3	3	2	1	3	3	3	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr9:18775775G>T	ENST00000380548.4	+	18	2771	c.2432G>T	c.(2431-2433)cGa>cTa	p.R811L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	811	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACCCAGACTCGAAGCGCCATT	0.512																																																	0													54	59	58					9																	18775775		1960	4158	6118	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2432G>T	9.37:g.18775775G>T	ENSP00000369921:p.Arg811Leu		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R811L	ENST00000380548.4	37	c.2432	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321323	0.60634	.	.	ENSG00000178031	ENST00000380548	T	0.80824	-1.42	5.81	5.81	0.92471	.	0.695701	0.08080	U	1.000000	D	0.90724	0.7089	H	0.99197	4.465	0.80722	D	1	B	0.30193	0.272	B	0.33799	0.17	D	0.88569	0.3128	10	0.87932	D	0	.	13.2939	0.60286	0.0719:0.0:0.9281:0.0	.	811	Q8N6G6	ATL1_HUMAN	L	811	ENSP00000369921:R811L	ENSP00000369921:R811L	R	+	2	0	ADAMTSL1	18765775	1.000000	0.71417	0.939000	0.37840	0.254000	0.26022	4.761000	0.62243	2.736000	0.93811	0.655000	0.94253	CGA	ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.512	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0	43	0	G			18775775	1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	missense	6.78	55	4	SNP	0.994	T	T	18775775	G	T	18775775	3	4	80	1	0	0	0	0	1	0	0	0	274	1058	37	2	2506	2	ADAMTSL1	9	18775775	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	11763996	18775775	122437656	128	21129											
LINGO2	158038	genome.wustl.edu	37	chr9	27950045	27950045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgatattgagatgctTcagatgcaggctgatgaggc	10	13	13	5	0	1	5	1	4	0	2	1	6	1	5	0	2	2	4	0	2	1	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr9:27950045T>C	ENST00000379992.2	-	6	1074	c.625A>G	c.(625-627)Aag>Gag	p.K209E	LINGO2_ENST00000308675.3_Missense_Mutation_p.K209E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	209						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGAGATGCTTCAGATGCAGG	0.468																																																	0													79	81	81					9																	27950045		2203	4300	6503	SO:0001583	missense	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"Immunoglobulin superfamily / I-set domain containing"	21207	protein-coding gene	gene with protein product		609793	"leucine rich repeat neuronal 6C"	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.625A>G	9.37:g.27950045T>C	ENSP00000369328:p.Lys209Glu		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K209E	ENST00000379992.2	37	c.625	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	T	12.39	1.922795	0.33908	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.79033	-1.23;-1.23	6.17	5.0	0.66597	.	0.167538	0.50627	D	0.000115	T	0.56615	0.1997	N	0.05177	-0.1	0.49130	D	0.999756	B	0.12013	0.005	B	0.17098	0.017	T	0.53878	-0.8376	9	.	.	.	.	12.4297	0.55567	0.0:0.0:0.2625:0.7375	.	209	Q7L985	LIGO2_HUMAN	E	209	ENSP00000369328:K209E;ENSP00000310126:K209E	.	K	-	1	0	LINGO2	27940045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.382000	0.44345	2.371000	0.80710	0.533000	0.62120	AAG	LINGO2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174482		0.468	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	-	0	29	0	T	NM_152570		27950045	-1	tier1	-	no_errors	ENST00000308675	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	C	C	27950045	T	C	27950045	3	2	80	1	0	0	0	0	1	0	0	0	8845	1792	62	4	1199	4	LINGO2	9	27950045	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	9174270	27950045	113263386	129	21130											
BICD2	23299	genome.wustl.edu	37	chr9	95481023	95481023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcttgatctggtcaCggatgatagcgatcaggttg	8	11	15	7	2	3	2	2	2	1	0	3	4	3	3	0	4	2	3	0	4	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr9:95481023C>T	ENST00000375512.3	-	5	1971	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	BICD2_ENST00000356884.6_Missense_Mutation_p.R635H	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	635					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)	p.R635H(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATCTGGTCACGGATGATAGC	0.652																																																	1	Substitution - Missense(1)	endometrium(1)											109	105	107					9																	95481023		2203	4300	6503	SO:0001583	missense	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1904G>A	9.37:g.95481023C>T	ENSP00000364662:p.Arg635His		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.R635H	ENST00000375512.3	37	c.1904	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272439	0.80580	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.52983	0.64;0.64	5.03	5.03	0.67393	.	0.060107	0.64402	D	0.000004	T	0.70561	0.3238	M	0.80982	2.52	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74917	-0.3501	10	0.72032	D	0.01	-15.392	16.2317	0.82347	0.0:1.0:0.0:0.0	.	635;635	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	H	635	ENSP00000349351:R635H;ENSP00000364662:R635H	ENSP00000349351:R635H	R	-	2	0	BICD2	94520844	1.000000	0.71417	0.953000	0.39169	0.834000	0.47266	7.714000	0.84703	2.516000	0.84829	0.561000	0.74099	CGT	BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.652	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1		0	49	0	C	NM_015250		95481023	-1			no_errors	ENST00000356884	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.996	T	T	95481023	C	T	95481023	3	4	80	1	0	0	0	0	1	0	0	0	1431	536	19	1	685	1	BICD2	9	95481023	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	67530978	95481023	45732408	130	21131											
MURC	347273	genome.wustl.edu	37	chr9	103348507	103348507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgaggaatgtgccaGggagatgggtgtggacatca	11	8	18	4	0	1	3	1	2	0	1	1	6	1	5	1	5	1	0	1	5	2	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr9:103348507G>A	ENST00000307584.5	+	2	934	c.869G>A	c.(868-870)aGg>aAg	p.R290K		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	290					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Z disc (GO:0030018)				endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAATGTGCCAGGGAGATGGGT	0.527																																																	0													112	115	114					9																	103348507		2203	4300	6503	SO:0001583	missense	0			BC090888	CCDS35083.1	9q31.1	2014-09-17			ENSG00000170681	ENSG00000170681			33742	protein-coding gene	gene with protein product	"muscle-restricted coiled-coil protein"					18508909, 18332105	Standard	NM_001018116		Approved	cavin-4, CAVIN4	uc004bba.3	Q5BKX8	OTTHUMG00000020368	ENST00000307584.5:c.869G>A	9.37:g.103348507G>A	ENSP00000418668:p.Arg290Lys		B1PRL3|B4DT88	Missense_Mutation	SNP	NULL	p.R290K	ENST00000307584.5	37	c.869	CCDS35083.1	9	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587007	0.28268	.	.	ENSG00000170681	ENST00000307584	T	0.62941	-0.01	5.29	1.53	0.23141	.	0.849786	0.10811	N	0.631621	T	0.37320	0.0999	N	0.14661	0.345	0.23506	N	0.997537	B	0.19200	0.034	B	0.19391	0.025	T	0.20706	-1.0267	10	0.18710	T	0.47	-2.3688	2.5598	0.04769	0.3785:0.0:0.4117:0.2097	.	290	Q5BKX8	MURC_HUMAN	K	290	ENSP00000418668:R290K	ENSP00000418668:R290K	R	+	2	0	MURC	102388328	1.000000	0.71417	0.431000	0.26735	0.257000	0.26127	3.837000	0.55820	0.530000	0.28619	0.561000	0.74099	AGG	MURC	-	NULL	ENSG00000170681		0.527	MURC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MURC	HGNC	protein_coding	OTTHUMT00000053419.2	-	0	44	0	G	NM_001018116		103348507	1	tier1	-	no_errors	ENST00000307584	ensembl	human	known	74_37	missense	15.19	67	12	SNP	0.699	A	A	103348507	G	A	103348507	3	1	80	1	0	0	0	0	1	0	0	0	10025	1000	35	3	875	3	MURC	9	103348507	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	7867484	103348507	37864924	131	21132											
SLC46A2	57864	genome.wustl.edu	37	chr9	115652722	115652722	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaccacaaggttgtaGataatgtagaaattggagat	15	9	11	6	0	0	3	0	0	0	3	0	4	0	3	2	3	0	3	2	3	5	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr9:115652722G>T	ENST00000374228.4	-	1	471	c.240C>A	c.(238-240)atC>atA	p.I80I		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	80					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CAAGGTTGTAGATAATGTAGA	0.612																																																	0													109	111	110					9																	115652722		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"Solute carriers"	16055	protein-coding gene	gene with protein product		608956	"thymic stromal co-transporter"	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.240C>A	9.37:g.115652722G>T			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.I80	ENST00000374228.4	37	c.240	CCDS6786.1	9																																																																																			SLC46A2	-	NULL	ENSG00000119457		0.612	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1	-	0	45	0	G	NM_033051		115652722	-1	tier1	-	no_errors	ENST00000374228	ensembl	human	known	74_37	silent	13.64	38	6	SNP	1.000	T	T	115652722	G	T	115652722	2	4	80	1	0	0	0	0	0	0	0	1	14690	932	33	3		3	SLC46A2	9	115652722	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	12304215	115652722	25560709	132	21133											
MYO3A	53904	genome.wustl.edu	37	chr10	26462823	26462823	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaccttgtagggccagaAgtaagccccaaacagaagtc	13	8	9	11	0	1	2	0	0	1	2	2	2	1	2	4	1	3	2	4	1	6	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:26462823A>C	ENST00000265944.5	+	30	3796	c.3630A>C	c.(3628-3630)gaA>gaC	p.E1210D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1210					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGGCCAGAAGTAAGCCCCA	0.413																																																	0													97	98	97					10																	26462823		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3630A>C	10.37:g.26462823A>C	ENSP00000265944:p.Glu1210Asp		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.E1210D	ENST00000265944.5	37	c.3630	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086212	0.36855	.	.	ENSG00000095777	ENST00000265944	T	0.79749	-1.3	5.07	2.63	0.31362	.	2.311560	0.01184	N	0.007160	T	0.73156	0.3551	L	0.29908	0.895	0.40321	D	0.978823	B	0.12630	0.006	B	0.08055	0.003	T	0.58329	-0.7655	10	0.72032	D	0.01	.	6.2622	0.20907	0.5756:0.159:0.0:0.2654	.	1210	Q8NEV4	MYO3A_HUMAN	D	1210	ENSP00000265944:E1210D	ENSP00000265944:E1210D	E	+	3	2	MYO3A	26502829	0.305000	0.24481	0.042000	0.18584	0.272000	0.26649	0.773000	0.26661	0.317000	0.23160	0.533000	0.62120	GAA	MYO3A	-	superfamily_P-loop_NTPase	ENSG00000095777		0.413	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0	19	0	A	NM_017433		26462823	1	tier1	-	no_errors	ENST00000265944	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.592	C	C	26462823	A	C	26462823	3	2	80	1	0	0	0	0	1	0	0	0	10114	69	3	4	3740	4	MYO3A	10	26462823	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09		26462823	109071924	133	21134											
ACBD5	91452	genome.wustl.edu	37	chr10	27507044	27507044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgaacaaagccatcttTatcatagccattagtgacaa	15	11	5	10	0	2	2	1	2	1	0	3	2	3	2	3	0	3	0	3	0	6	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:27507044T>C	ENST00000375888.1	-	7	785	c.721A>G	c.(721-723)Aaa>Gaa	p.K241E	ACBD5_ENST00000375905.4_Missense_Mutation_p.K197E|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.K123E|ACBD5_ENST00000396271.3_Missense_Mutation_p.K232E|ACBD5_ENST00000375897.3_Intron			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	241					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AAGCCATCTTTATCATAGCCA	0.368																																																	0													205	193	197					10																	27507044		2203	4300	6503	SO:0001583	missense	0			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.721A>G	10.37:g.27507044T>C	ENSP00000365049:p.Lys241Glu		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.K241E	ENST00000375888.1	37	c.721		10	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059531	0.36373	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375888;ENST00000426079;ENST00000412279	D;T;T;T;T;T	0.83837	-1.77;2.16;1.41;2.43;2.1;1.81	5.11	3.97	0.46021	.	0.600069	0.18134	N	0.150657	T	0.74321	0.3701	L	0.39397	1.21	0.80722	D	1	B;B;B	0.13594	0.008;0.003;0.003	B;B;B	0.12837	0.008;0.006;0.002	T	0.66654	-0.5869	10	0.40728	T	0.16	-13.9895	7.7469	0.28875	0.0:0.1652:0.0:0.8348	.	232;230;241	Q5T8D3-3;B7Z2R7;Q5T8D3	.;.;ACBD5_HUMAN	E	238;232;197;123;241;250;208	ENSP00000379568:K232E;ENSP00000365070:K197E;ENSP00000365066:K123E;ENSP00000365049:K241E;ENSP00000401591:K250E;ENSP00000393398:K208E	ENSP00000365049:K241E	K	-	1	0	ACBD5	27547050	0.998000	0.40836	0.995000	0.50966	0.997000	0.91878	0.970000	0.29383	0.786000	0.33708	0.477000	0.44152	AAA	ACBD5	-	pirsf_M-assoc_diazepam-bd-inh	ENSG00000107897		0.368	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1	-	0	43	0	T	NM_145698		27507044	-1	tier1	-	no_errors	ENST00000375888	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.999	C	C	27507044	T	C	27507044	3	2	80	1	0	0	0	0	1	0	0	0	125	1763	61	4	911	4	ACBD5	10	27507044	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	1044221	27507044	108027703	134	21135											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37418838	37418838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggactgctctacactgggCctgtgtcaatggccatgagg	8	10	13	10	0	2	1	1	1	1	0	2	2	2	2	2	4	2	1	2	4	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:37418838C>A	ENST00000602533.1	+	2	170	c.71C>A	c.(70-72)gCc>gAc	p.A24D	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A24D|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A24D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	80					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTACACTGGGCCTGTGTCAAT	0.443																																																	0													48	44	45					10																	37418838		1915	4139	6054	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.71C>A	10.37:g.37418838C>A	ENSP00000473551:p.Ala24Asp		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A24D	ENST00000602533.1	37	c.71		10	.	.	.	.	.	.	.	.	.	.	.	15.63	2.889442	0.52014	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	D;D	0.87729	-2.29;-2.29	2.0	2.0	0.26442	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.95392	0.8504	H	0.99197	4.465	0.37613	D	0.921021	D	0.71674	0.998	D	0.75020	0.985	D	0.94470	0.7684	9	0.87932	D	0	.	7.4605	0.27291	0.0:1.0:0.0:0.0	.	80	Q9BXX3	AN30A_HUMAN	D	24	ENSP00000354432:A24D;ENSP00000363792:A24D	ENSP00000354432:A24D	A	+	2	0	ANKRD30A	37458844	1.000000	0.71417	0.531000	0.27976	0.029000	0.11900	4.798000	0.62510	1.110000	0.41699	0.281000	0.19383	GCC	ANKRD30A	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148513		0.443	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	66	0	C	NM_052997		37418838	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	44.71	47	38	SNP	1.000	A	A	37418838	C	A	37418838	3	1	80	1	0	0	0	0	1	0	0	0	658	739	26	3	77	3	ANKRD30A	10	37418838	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	9911794	37418838	98115909	135	21136											
HTR7	3363	genome.wustl.edu	37	chr10	92509183	92509183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaatcgtatagccaaaGtcctggctgatcaagcacac	14	8	9	10	1	1	1	1	1	0	0	3	2	2	1	2	1	2	4	2	1	6	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:92509183G>T	ENST00000336152.3	-	2	734	c.708C>A	c.(706-708)gaC>gaA	p.D236E	HTR7_ENST00000371719.2_Missense_Mutation_p.D236E|HTR7_ENST00000277874.6_Missense_Mutation_p.D236E|HTR7_ENST00000371721.3_Missense_Mutation_p.D236E	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	236					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TATAGCCAAAGTCCTGGCTGA	0.473																																																	0													93	98	96					10																	92509183		2203	4300	6503	SO:0001583	missense	0			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5302	protein-coding gene	gene with protein product		182137	"5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.708C>A	10.37:g.92509183G>T	ENSP00000337949:p.Asp236Glu		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.D236E	ENST00000336152.3	37	c.708	CCDS7408.1	10	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791058	0.70452	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.28	-4.83	0.03161	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	N	0.21545	0.675	0.42283	D	0.992101	D;P	0.63880	0.993;0.923	D;P	0.66084	0.941;0.79	T	0.39742	-0.9599	10	0.25106	T	0.35	.	16.9893	0.86349	0.3105:0.0:0.6895:0.0	.	236;236	P34969;P34969-2	5HT7R_HUMAN;.	E	236	ENSP00000337949:D236E;ENSP00000277874:D236E;ENSP00000360784:D236E;ENSP00000360786:D236E	ENSP00000277874:D236E	D	-	3	2	HTR7	92499163	0.973000	0.33851	0.651000	0.29564	0.994000	0.84299	0.130000	0.15850	-0.716000	0.04962	0.650000	0.86243	GAC	HTR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000148680		0.473	HTR7-001	KNOWN	basic|CCDS	protein_coding	HTR7	HGNC	protein_coding	OTTHUMT00000049343.1	-	0	37	0	G	NM_000872		92509183	-1	tier1	-	no_errors	ENST00000336152	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.993	T	T	92509183	G	T	92509183	3	4	80	1	0	0	0	0	1	0	0	0	7479	1020	36	3	747	3	HTR7	10	92509183	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	55090345	92509183	43025564	136	21137											
BTAF1	9044	genome.wustl.edu	37	chr10	93740298	93740298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagcagccaggaaattCtggaccttattcacaaggta	14	9	10	8	0	2	0	1	0	1	0	2	3	2	3	2	4	2	2	2	4	5	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:93740298C>A	ENST00000265990.6	+	15	2046	c.1738C>A	c.(1738-1740)Ctg>Atg	p.L580M	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	580					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCAGGAAATTCTGGACCTTAT	0.348																																																	0													92	85	87					10																	93740298		2203	4300	6503	SO:0001583	missense	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1738C>A	10.37:g.93740298C>A	ENSP00000265990:p.Leu580Met		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L580M	ENST00000265990.6	37	c.1738	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767111	0.49574	.	.	ENSG00000095564	ENST00000265990	D	0.91631	-2.88	5.52	3.67	0.42095	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.93135	0.7814	M	0.71296	2.17	0.80722	D	1	D;D	0.58268	0.982;0.982	P;P	0.59357	0.856;0.856	D	0.90216	0.4268	10	0.34782	T	0.22	-3.2582	6.2794	0.20999	0.1481:0.6951:0.0:0.1567	.	580;580	Q2M1V9;O14981	.;BTAF1_HUMAN	M	580	ENSP00000265990:L580M	ENSP00000265990:L580M	L	+	1	2	BTAF1	93730278	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.898000	0.39809	0.700000	0.31782	-0.444000	0.05651	CTG	BTAF1	-	superfamily_ARM-type_fold	ENSG00000095564		0.348	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	-	0	53	0	C	NM_003972		93740298	1	tier1	-	no_errors	ENST00000265990	ensembl	human	known	74_37	missense	20.00	60	15	SNP	1.000	A	A	93740298	C	A	93740298	3	1	80	1	0	0	0	0	1	0	0	0	1540	912	32	3	1796	3	BTAF1	10	93740298	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1231115	93740298	41794449	137	21138											
NDUFB8	4714	genome.wustl.edu	37	chr10	102289559	102289559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcatcacgttccgggatGccctttgcagccactggact	6	9	12	14	3	1	0	1	0	0	0	2	2	2	2	3	3	3	3	3	3	0	2	rs139653725		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:102289559G>T	ENST00000299166.4	-	1	62	c.50C>A	c.(49-51)gCa>gAa	p.A17E	NDUFB8_ENST00000531258.1_Missense_Mutation_p.A17E|NDUFB8_ENST00000370320.4_Missense_Mutation_p.A17E|SEC31B_ENST00000535773.1_5'UTR|NDUFB8_ENST00000370322.1_Intron|NDUFB8_ENST00000557395.1_Missense_Mutation_p.A17E	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	17					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		GTTCCGGGATGCCCTTTGCAG	0.627																																																	0													36	38	37					10																	102289559		2203	4300	6503	SO:0001583	missense	0			AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"Mitochondrial respiratory chain complex / Complex I"	7703	protein-coding gene	gene with protein product	"complex I ASHI subunit"	602140	"NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.50C>A	10.37:g.102289559G>T	ENSP00000299166:p.Ala17Glu		A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8	p.A17E	ENST00000299166.4	37	c.50	CCDS7497.1	10	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855854	0.32791	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370320	.	.	.	5.04	4.14	0.48551	.	0.482464	0.22019	N	0.065757	T	0.44705	0.1306	L	0.47190	1.495	0.80722	D	1	B	0.14805	0.011	B	0.14023	0.01	T	0.26155	-1.0111	9	0.06757	T	0.87	-3.0164	10.4096	0.44285	0.091:0.0:0.909:0.0	.	17	O95169	NDUB8_HUMAN	E	17	.	ENSP00000299166:A17E	A	-	2	0	NDUFB8	102279549	0.018000	0.18449	0.777000	0.31699	0.140000	0.21249	1.202000	0.32271	1.356000	0.45884	0.462000	0.41574	GCA	NDUFB8	-	pfam_NDUFB8,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8	ENSG00000166136		0.627	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB8	HGNC	protein_coding	OTTHUMT00000051225.1	-	0	46	0	G	NM_005004		102289559	-1	tier1	-	no_errors	ENST00000299166	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.646	T	T	102289559	G	T	102289559	3	4	80	1	0	0	0	0	1	0	0	0	10326	1319	46	3	530	3	NDUFB8	10	102289559	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	8549261	102289559	33245188	138	21139											
CNNM2	54805	genome.wustl.edu	37	chr10	104816695	104816695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaccagcgcaacaagccaGtagactacttcgttctcatt	11	11	6	13	2	2	1	1	0	2	1	4	1	2	1	2	0	5	3	2	0	5	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:104816695G>A	ENST00000369878.4	+	4	2235	c.2047G>A	c.(2047-2049)Gta>Ata	p.V683I	CNNM2_ENST00000433628.2_Missense_Mutation_p.V683I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	683					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAACAAGCCAGTAGACTACTT	0.438																																																	0													129	141	137					10																	104816695		2101	4258	6359	SO:0001583	missense	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.2047G>A	10.37:g.104816695G>A	ENSP00000358894:p.Val683Ile		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.V683I	ENST00000369878.4	37	c.2047	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554501	0.65425	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369878;ENST00000345419	T	0.74421	-0.84	5.83	5.83	0.93111	RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	L	0.60957	1.885	0.58432	D	0.999999	B;B	0.18968	0.032;0.006	B;B	0.23275	0.045;0.014	T	0.67019	-0.5776	10	0.44086	T	0.13	.	14.2917	0.66284	0.0706:0.0:0.9294:0.0	.	683;683	Q9H8M5-2;Q9H8M5	.;CNNM2_HUMAN	I	684;684;683;683	ENSP00000358894:V683I	ENSP00000286899:V683I	V	+	1	0	CNNM2	104806685	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.029000	0.88807	2.763000	0.94921	0.561000	0.74099	GTA	CNNM2	-	superfamily_cNMP-bd-like	ENSG00000148842		0.438	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	-	0	48	0	G	NM_017649		104816695	1	tier1	-	no_errors	ENST00000369878	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	A	A	104816695	G	A	104816695	3	1	80	1	0	0	0	0	1	0	0	0	3620	1029	36	3	2103	3	CNNM2	10	104816695	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	2527136	104816695	30718052	139	21140											
SORCS3	22986	genome.wustl.edu	37	chr10	106907435	106907435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggtccaagaatggaacCagaacgacacgtacaacctc	14	5	9	13	3	0	2	0	0	0	2	2	4	1	3	3	2	5	1	3	2	6	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:106907435C>G	ENST00000369701.3	+	9	1590	c.1363C>G	c.(1363-1365)Cag>Gag	p.Q455E		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	455					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAATGGAACCAGAACGACAC	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)												0													252	201	218					10																	106907435		2203	4300	6503	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1363C>G	10.37:g.106907435C>G	ENSP00000358715:p.Gln455Glu		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.Q455E	ENST00000369701.3	37	c.1363	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507753	0.85282	.	.	ENSG00000156395	ENST00000369701	T	0.36340	1.26	5.27	5.27	0.74061	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.62088	1.915	0.80722	D	1	P	0.40250	0.709	P	0.44897	0.463	T	0.46317	-0.9200	10	0.54805	T	0.06	.	19.2555	0.93944	0.0:1.0:0.0:0.0	.	455	Q9UPU3	SORC3_HUMAN	E	455	ENSP00000358715:Q455E	ENSP00000358715:Q455E	Q	+	1	0	SORCS3	106897425	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.639000	0.89480	0.650000	0.86243	CAG	SORCS3	-	smart_VPS10	ENSG00000156395		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	-	0	61	0	C	NM_014978		106907435	1	tier1	-	no_errors	ENST00000369701	ensembl	human	known	74_37	missense	16.46	66	13	SNP	1.000	G	G	106907435	C	G	106907435	3	3	80	1	0	0	0	0	1	0	0	0	14977	595	21	5	1397	5	SORCS3	10	106907435	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2090740	106907435	28627312	140	21141											
PRLHR	2834	genome.wustl.edu	37	chr10	120354100	120354100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagagctggcgctggcgCtcctgggagccccagaactc	6	6	15	14	3	0	2	0	0	0	2	2	3	1	3	3	3	3	4	3	3	2	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:120354100C>A	ENST00000369169.1	-	1	656	c.657G>T	c.(655-657)gaG>gaT	p.E219D	PRLHR_ENST00000239032.2_Missense_Mutation_p.E219D			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	219					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGCGCTGGCGCTCCTGGGAGC	0.677																																																	0													10	9	9					10																	120354100		2161	4231	6392	SO:0001583	missense	0			AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"GPCR / Class A : RF amide peptide receptors"	4464	protein-coding gene	gene with protein product		600895	"G protein-coupled receptor 10"	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.657G>T	10.37:g.120354100C>A	ENSP00000358167:p.Glu219Asp		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E219D	ENST00000369169.1	37	c.657	CCDS7606.1	10	.	.	.	.	.	.	.	.	.	.	C	12.09	1.835098	0.32421	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.36699	1.24;1.24	4.8	0.763	0.18459	GPCR, rhodopsin-like superfamily (1);	0.118966	0.53938	D	0.000042	T	0.39064	0.1064	L	0.40543	1.245	0.37801	D	0.927702	D	0.71674	0.998	D	0.71656	0.974	T	0.38329	-0.9666	10	0.19147	T	0.46	.	4.9268	0.13898	0.1438:0.5065:0.0:0.3497	.	219	P49683	PRLHR_HUMAN	D	219	ENSP00000239032:E219D;ENSP00000358167:E219D	ENSP00000239032:E219D	E	-	3	2	PRLHR	120344090	0.630000	0.27155	0.999000	0.59377	0.494000	0.33585	0.151000	0.16283	0.245000	0.21373	-0.181000	0.13052	GAG	PRLHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt	ENSG00000119973		0.677	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLHR	HGNC	protein_coding	OTTHUMT00000050610.1	-	0	28	0	C	NM_004248		120354100	-1	tier1	-	no_errors	ENST00000239032	ensembl	human	known	74_37	missense	69.77	13	30	SNP	0.995	A	A	120354100	C	A	120354100	3	1	80	1	0	0	0	0	1	0	0	0	12572	796	28	3	459	3	PRLHR	10	120354100	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	13446665	120354100	15180647	141	21142											
HTRA1	5654	genome.wustl.edu	37	chr10	124249032	124249032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaatgcccacgtggtgAccaacaagcaccgggtcaaa	14	5	10	12	2	1	2	1	2	0	0	1	2	1	2	3	2	3	1	3	2	4	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:124249032A>G	ENST00000368984.3	+	3	795	c.667A>G	c.(667-669)Acc>Gcc	p.T223A		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	223	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CCACGTGGTGACCAACAAGCA	0.488																																																	0													166	145	152					10																	124249032		2203	4300	6503	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.667A>G	10.37:g.124249032A>G	ENSP00000357980:p.Thr223Ala		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.T223A	ENST00000368984.3	37	c.667	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545231	0.27652	.	.	ENSG00000166033	ENST00000368984;ENST00000435263	D	0.87103	-2.21	5.13	5.13	0.70059	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.054951	0.64402	D	0.000001	T	0.59321	0.2185	N	0.00298	-1.69	0.49915	D	0.999831	B	0.06786	0.001	B	0.08055	0.003	T	0.65928	-0.6049	10	0.05833	T	0.94	-0.8765	14.9758	0.71269	1.0:0.0:0.0:0.0	.	223	Q92743	HTRA1_HUMAN	A	223;190	ENSP00000357980:T223A	ENSP00000357980:T223A	T	+	1	0	HTRA1	124239022	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.341000	0.79300	1.935000	0.56089	0.528000	0.53228	ACC	HTRA1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C	ENSG00000166033		0.488	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	-	0	53	0	A	NM_002775		124249032	1	tier1	-	no_errors	ENST00000368984	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	G	G	124249032	A	G	124249032	3	3	80	1	0	0	0	0	1	0	0	0	7480	275	10	4	677	4	HTRA1	10	124249032	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	3894932	124249032	11285715	142	21143											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133930889	133930889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaagaaggggttcgaGgtggagaaggtcaagatgca	13	5	18	5	1	1	3	1	0	0	3	2	6	1	3	1	6	1	2	1	6	4	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr10:133930889G>T	ENST00000298622.4	+	2	582	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	148						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGGGGTTCGAGGTGGAGAAGG	0.622																																																	0													92	108	103					10																	133930889		2160	4256	6416	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.444G>T	10.37:g.133930889G>T	ENSP00000298622:p.Glu148Asp		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.E148D	ENST00000298622.4	37	c.444	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	2.121	-0.401461	0.04865	.	.	ENSG00000188385	ENST00000298622	T	0.26067	1.76	4.53	3.63	0.41609	.	0.055126	0.64402	D	0.000001	T	0.09905	0.0243	N	0.03608	-0.345	0.24055	N	0.996036	B	0.19583	0.037	B	0.16722	0.016	T	0.19418	-1.0306	10	0.31617	T	0.26	-34.3933	5.911	0.19029	0.1693:0.1591:0.6715:0.0	.	148	Q5VZ66	JKIP3_HUMAN	D	148	ENSP00000298622:E148D	ENSP00000298622:E148D	E	+	3	2	JAKMIP3	133780879	0.001000	0.12720	1.000000	0.80357	0.993000	0.82548	-0.154000	0.10130	1.132000	0.42129	0.491000	0.48974	GAG	JAKMIP3	-	NULL	ENSG00000188385		0.622	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0	35	0	G	NM_194303		133930889	1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	14.71	58	10	SNP	0.984	T	T	133930889	G	T	133930889	3	4	80	1	0	0	0	0	1	0	0	0	7969	991	35	3	450	3	JAKMIP3	10	133930889	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	9681857	133930889	1603858	143	21144											
UBQLN3	50613	genome.wustl.edu	37	chr11	5530262	5530262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagcagacccgggatgAaggggtcatcaatgagctga	12	6	15	8	1	2	4	2	3	0	1	2	6	2	6	1	4	2	2	1	4	2	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:5530262A>G	ENST00000311659.4	-	2	674	c.527T>C	c.(526-528)tTc>tCc	p.F176S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	176										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCGGGATGAAGGGGTCATC	0.572																																					Ovarian(72;684 1260 12332 41642 52180)												0													70	69	69					11																	5530262		2201	4297	6498	SO:0001583	missense	0			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.527T>C	11.37:g.5530262A>G	ENSP00000347997:p.Phe176Ser		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.F176S	ENST00000311659.4	37	c.527	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	A	21.4	4.142653	0.77888	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.52295	1.24;0.67	5.55	5.55	0.83447	.	0.000000	0.49305	D	0.000145	T	0.44973	0.1319	L	0.54323	1.7	0.41624	D	0.988982	B	0.29716	0.255	B	0.29663	0.105	T	0.43814	-0.9368	10	0.48119	T	0.1	-15.5123	13.9369	0.64029	1.0:0.0:0.0:0.0	.	176	Q9H347	UBQL3_HUMAN	S	176	ENSP00000347997:F176S;ENSP00000412561:F176S	ENSP00000347997:F176S	F	-	2	0	UBQLN3	5486838	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.190000	0.94934	2.238000	0.73509	0.477000	0.44152	TTC	UBQLN3	-	NULL	ENSG00000175520		0.572	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0	33	0	A	NM_017481		5530262	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	21.43	44	12	SNP	1.000	G	G	5530262	A	G	5530262	3	3	80	1	0	0	0	0	1	0	0	0	16947	246	9	4	1444	4	UBQLN3	11	5530262	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09		5530262	129476254	144	21145											
ZNF215	7762	genome.wustl.edu	37	chr11	6977317	6977317	+	Frame_Shift_Del	DEL	A	A	-																															gagtacagatattcgacaccAaaaaagtcatactacaatga																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:6977317delA	ENST00000278319.5	+	7	1697	c.1109delA	c.(1108-1110)caafs	p.Q370fs	ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Frame_Shift_Del_p.Q370fs|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	370					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATTCGACACCAAAAAAGTCAT	0.343																																																	0													61	60	60					11																	6977317		2201	4296	6497	SO:0001589	frameshift_variant	0			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"Zinc fingers, C2H2-type", "-", "-", "-"	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1109delA	11.37:g.6977317delA	ENSP00000278319:p.Gln370fs		Q96C84	Frame_Shift_Del	DEL	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S372fs	ENST00000278319.5	37	c.1109	CCDS7775.1	11																																																																																			ZNF215	-	NULL	ENSG00000149054		0.343	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF215	HGNC	protein_coding	OTTHUMT00000384550.1		0	32	0	A			6977317	1	tier1		no_errors	ENST00000278319	ensembl	human	known	74_37	frame_shift_del	11.11	24	3	DEL	0.000	-	-	6977317	A	-	6977317	7	5	80	1	0	1	0	1	0	0	0	0	17819	130	5	0	1127	0	ZNF215	11	6977317	Frame_Shift_Del	DEL	A	TCGA-L5-A8NF-01A-11D-A37C-09	1447055	6977317	128029199	145	21146											
RBMXL2	27288	genome.wustl.edu	37	chr11	7111369	7111369	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccgctactcgaggggcCgacaccgggtgggcagacca	8	3	16	14	5	0	1	0	0	0	1	1	4	0	1	4	4	1	2	4	4	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:7111369C>T	ENST00000306904.5	+	1	1205	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	340	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCGAGGGGCCGACACCGGGT	0.662																																																	0													21	22	22					11																	7111369		2200	4296	6496	SO:0001587	stop_gained	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.1018C>T	11.37:g.7111369C>T	ENSP00000304139:p.Arg340*		Q6PEZ2|Q9NQU0	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R340*	ENST00000306904.5	37	c.1018	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.426066	0.97559	.	.	ENSG00000170748	ENST00000306904	.	.	.	3.73	3.73	0.42828	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8214	0.63322	0.0:1.0:0.0:0.0	.	.	.	.	X	340	.	ENSP00000304139:R340X	R	+	1	2	RBMXL2	7067945	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	6.945000	0.75947	2.365000	0.80145	0.563000	0.77884	CGA	RBMXL2	-	NULL	ENSG00000170748		0.662	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	35	0	C	NM_014469		7111369	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	nonsense	44.68	26	21	SNP	1.000	T	T	7111369	C	T	7111369	4	4	80	1	0	0	0	0	0	1	0	0	13199	644	23	1	1020	1	RBMXL2	11	7111369	Nonsense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	134052	7111369	127895147	146	21147											
C11orf16	56673	genome.wustl.edu	37	chr11	8951033	8951033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagccagccaggccccTgccatgctgggtcggcaacg	6	6	12	17	2	0	0	0	0	0	0	2	0	1	0	6	3	5	2	6	3	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:8951033T>C	ENST00000326053.5	-	3	321	c.215A>G	c.(214-216)cAg>cGg	p.Q72R	C11orf16_ENST00000525780.1_Missense_Mutation_p.Q72R|C11orf16_ENST00000528998.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	72										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCCAGGCCCCTGCCATGCTGG	0.532																																																	0													67	67	67					11																	8951033		2201	4296	6497	SO:0001583	missense	0			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.215A>G	11.37:g.8951033T>C	ENSP00000318999:p.Gln72Arg		Q53FB2|Q8N6Y9	Missense_Mutation	SNP	NULL	p.Q72R	ENST00000326053.5	37	c.215	CCDS7794.1	11	.	.	.	.	.	.	.	.	.	.	T	4.804	0.149448	0.09185	.	.	ENSG00000176029	ENST00000525780;ENST00000326053;ENST00000526227	T;T	0.31510	1.5;1.49	4.66	2.27	0.28462	.	0.361457	0.23949	N	0.042974	T	0.25121	0.0610	L	0.47716	1.5	0.09310	N	1	P;P	0.46512	0.739;0.879	B;B	0.43103	0.221;0.408	T	0.08432	-1.0722	10	0.38643	T	0.18	-17.2778	6.2071	0.20608	0.0:0.0853:0.1676:0.7471	.	72;72	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	R	72	ENSP00000436818:Q72R;ENSP00000318999:Q72R	ENSP00000318999:Q72R	Q	-	2	0	C11orf16	8907609	0.551000	0.26497	0.204000	0.23530	0.043000	0.13939	2.044000	0.41241	0.357000	0.24183	0.533000	0.62120	CAG	C11orf16	-	NULL	ENSG00000176029		0.532	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf16	HGNC	protein_coding	OTTHUMT00000385626.1		0	52	0	T	NM_020643		8951033	-1			no_errors	ENST00000326053	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.053	C	C	8951033	T	C	8951033	3	2	80	1	0	0	0	0	1	0	0	0	1636	1580	55	4	1204	4	C11orf16	11	8951033	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	1839664	8951033	126055483	147	21148											
COPB1	1315	genome.wustl.edu	37	chr11	14501200	14501200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgctgaatggcttcacGaacaaactccaagacatcag	16	6	8	11	2	2	2	2	1	0	1	3	3	3	2	1	1	3	2	1	1	5	1	rs377571611		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:14501200G>T	ENST00000249923.3	-	11	1573	c.1273C>A	c.(1273-1275)Cgt>Agt	p.R425S	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Missense_Mutation_p.R425S	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	425					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.R425C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ATGGCTTCACGAACAAACTCC	0.343																																																	2	Substitution - Missense(2)	large_intestine(2)											73	74	74					11																	14501200		2200	4294	6494	SO:0001583	missense	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1273C>A	11.37:g.14501200G>T	ENSP00000249923:p.Arg425Ser		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.R425S	ENST00000249923.3	37	c.1273	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.467099	0.96257	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234	T;T;T	0.27557	1.66;1.66;1.66	5.92	5.92	0.95590	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77451	-0.2583	10	0.87932	D	0	-0.1037	20.3343	0.98733	0.0:0.0:1.0:0.0	.	425	P53618	COPB_HUMAN	S	425	ENSP00000249923:R425S;ENSP00000397873:R425S;ENSP00000436383:R425S	ENSP00000249923:R425S	R	-	1	0	COPB1	14457776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.932000	0.87634	2.822000	0.97130	0.650000	0.86243	CGT	COPB1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	ENSG00000129083		0.343	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1		0	32	0	G	NM_016451		14501200	-1			no_errors	ENST00000249923	ensembl	human	known	74_37	missense	5.66	49	3	SNP	1.000	T	T	14501200	G	T	14501200	3	4	80	1	0	0	0	0	1	0	0	0	3735	1058	37	2	1636	2	COPB1	11	14501200	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5550167	14501200	120505316	148	21149											
MRGPRX2	117194	genome.wustl.edu	37	chr11	19077360	19077360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagactggacccacagagaAccatgaataaaaaaatcagc	19	4	7	11	0	1	3	1	1	0	2	1	5	1	4	3	1	2	0	3	1	6	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:19077360A>G	ENST00000329773.2	-	2	677	c.590T>C	c.(589-591)gTt>gCt	p.V197A		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	197					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCCACAGAGAACCATGAATAA	0.517																																					GBM(198;1966 2199 4849 37227 49954)												0													46	48	47					11																	19077360		2199	4293	6492	SO:0001583	missense	0				CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"GPCR / Class A : Orphans"	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.590T>C	11.37:g.19077360A>G	ENSP00000333800:p.Val197Ala		B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V197A	ENST00000329773.2	37	c.590	CCDS7847.1	11	.	.	.	.	.	.	.	.	.	.	.	16.95	3.264055	0.59431	.	.	ENSG00000183695	ENST00000329773	T	0.74106	-0.81	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	1.202360	0.06022	N	0.651402	D	0.84288	0.5439	M	0.85462	2.755	0.09310	N	1	P	0.44344	0.833	P	0.49085	0.6	T	0.72431	-0.4296	10	0.62326	D	0.03	.	12.9765	0.58540	1.0:0.0:0.0:0.0	.	197	Q96LB1	MRGX2_HUMAN	A	197	ENSP00000333800:V197A	ENSP00000333800:V197A	V	-	2	0	MRGPRX2	19033936	0.001000	0.12720	0.348000	0.25681	0.220000	0.24768	1.208000	0.32345	2.241000	0.73720	0.533000	0.62120	GTT	MRGPRX2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183695		0.517	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX2	HGNC	protein_coding	OTTHUMT00000387819.1	-	0	20	0	A	NM_054030		19077360	-1	tier1	-	no_errors	ENST00000329773	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.063	G	G	19077360	A	G	19077360	3	3	80	1	0	0	0	0	1	0	0	0	9805	43	2	4	406	4	MRGPRX2	11	19077360	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	4576160	19077360	115929156	149	21150											
DBX1	120237	genome.wustl.edu	37	chr11	20181682	20181682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctgcctgggcggcgaCatgctggcggtgggcacgct	3	6	17	15	4	0	0	0	0	0	0	0	1	0	0	3	5	2	3	3	5	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:20181682C>T	ENST00000524983.2	-	1	477	c.189G>A	c.(187-189)atG>atA	p.M63I	DBX1_ENST00000227256.3_Missense_Mutation_p.M63I			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	63					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGGGCGGCGACATGCTGGCGG	0.746																																																	0													4	6	5					11																	20181682		1903	3689	5592	SO:0001583	missense	0					11p15.1	2011-06-20				ENSG00000109851		"Homeoboxes / ANTP class : NKL subclass"	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.189G>A	11.37:g.20181682C>T	ENSP00000436881:p.Met63Ile			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.M63I	ENST00000524983.2	37	c.189		11	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362005	0.24684	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.90324	-2.65;0.32	5.51	3.58	0.41010	.	0.470848	0.24488	N	0.038091	T	0.81678	0.4873	N	0.22421	0.69	0.27497	N	0.952108	B	0.13594	0.008	B	0.15870	0.014	T	0.66736	-0.5848	10	0.21540	T	0.41	-5.26	9.1224	0.36795	0.2601:0.6706:0.0:0.0693	.	63	F8W811	.	I	63	ENSP00000436881:M63I;ENSP00000227256:M63I	ENSP00000227256:M63I	M	-	3	0	DBX1	20138258	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	2.274000	0.43390	0.640000	0.30582	0.491000	0.48974	ATG	DBX1	-	NULL	ENSG00000109851		0.746	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	-	0	19	0	C	NM_001029865		20181682	-1	tier1	-	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	T	T	20181682	C	T	20181682	3	4	80	1	0	0	0	0	1	0	0	0	4268	478	17	3	975	3	DBX1	11	20181682	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1104322	20181682	114824834	150	21151											
NAT10	55226	genome.wustl.edu	37	chr11	34144020	34144020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggccaaagctgtcttGaaatttatcgagggcatctc	11	10	9	11	1	2	1	0	1	2	0	4	2	2	1	2	2	1	2	2	2	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:34144020G>T	ENST00000257829.3	+	9	1001	c.795G>T	c.(793-795)ttG>ttT	p.L265F	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.L193F	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	265						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AAGCTGTCTTGAAATTTATCG	0.483																																																	0													86	88	88					11																	34144020		2202	4298	6500	SO:0001583	missense	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.795G>T	11.37:g.34144020G>T	ENSP00000257829:p.Leu265Phe		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.L265F	ENST00000257829.3	37	c.795	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147611	0.57151	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.37915	1.19;1.17	5.78	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.90369	3.11	0.80722	D	1	P	0.46020	0.871	B	0.43783	0.431	T	0.50242	-0.8851	10	0.41790	T	0.15	-14.3503	6.9716	0.24652	0.188:0.1393:0.6726:0.0	.	265	Q9H0A0	NAT10_HUMAN	F	265;193	ENSP00000257829:L265F;ENSP00000433011:L193F	ENSP00000257829:L265F	L	+	3	2	NAT10	34100596	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.577000	0.46042	1.454000	0.47793	0.561000	0.74099	TTG	NAT10	-	superfamily_P-loop_NTPase	ENSG00000135372		0.483	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1		0	45	0	G	NM_024662		34144020	1			no_errors	ENST00000257829	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	34144020	G	T	34144020	3	4	80	1	0	0	0	0	1	0	0	0	10212	1281	45	3	825	3	NAT10	11	34144020	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	13962338	34144020	100862496	151	21152											
MAPK8IP1	9479	genome.wustl.edu	37	chr11	45925666	45925666	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccggggtgtctttccTgcctattacgccatcgaggt	4	12	13	12	3	1	0	0	0	1	0	3	1	2	0	4	4	3	0	4	4	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:45925666T>C	ENST00000241014.2	+	7	1790	c.1620T>C	c.(1618-1620)ccT>ccC	p.P540P	MAPK8IP1_ENST00000395629.2_Silent_p.P530P|RP11-618K13.2_ENST00000533218.1_RNA	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	540	Interaction with VRK2.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GTGTCTTTCCTGCCTATTACG	0.602																																																	0													89	71	77					11																	45925666		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.1620T>C	11.37:g.45925666T>C			D3DQP4|O43407	Silent	SNP	pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain	p.P540	ENST00000241014.2	37	c.1620	CCDS7916.1	11																																																																																			MAPK8IP1	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000121653		0.602	MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP1	HGNC	protein_coding	OTTHUMT00000259405.1	-	0	33	0	T	NM_005456		45925666	1	tier1	-	no_errors	ENST00000241014	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.554	C	C	45925666	T	C	45925666	2	2	80	1	0	0	0	0	0	0	0	1	9322	1567	55	4		4	MAPK8IP1	11	45925666	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	11781646	45925666	89080850	152	21153											
OR4A5	81318	genome.wustl.edu	37	chr11	51411684	51411684	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacggtactgccggagcTgcaggtagacaaggctttac	12	7	12	10	2	0	1	0	0	0	1	0	2	0	2	1	4	7	5	1	4	6	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:51411684T>A	ENST00000319760.6	-	1	764	c.712A>T	c.(712-714)Agc>Tgc	p.S238C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGCCGGAGCTGCAGGTAGAC	0.403																																																	0													63	63	63					11																	51411684		2201	4295	6496	SO:0001583	missense	0			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"GPCR / Class A : Olfactory receptors"	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.712A>T	11.37:g.51411684T>A	ENSP00000367664:p.Ser238Cys		Q6IF84	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S238C	ENST00000319760.6	37	c.712	CCDS31497.1	11	.	.	.	.	.	.	.	.	.	.	.	8.368	0.834614	0.16820	.	.	ENSG00000221840	ENST00000319760	T	0.38722	1.12	1.93	0.762	0.18454	GPCR, rhodopsin-like superfamily (1);	0.790281	0.10892	N	0.622623	T	0.61286	0.2335	M	0.86268	2.805	0.26196	N	0.979513	D	0.67145	0.996	D	0.70016	0.967	T	0.47341	-0.9125	10	0.52906	T	0.07	.	5.1685	0.15098	0.0:0.172:0.0:0.828	.	238	Q8NH83	OR4A5_HUMAN	C	238	ENSP00000367664:S238C	ENSP00000367664:S238C	S	-	1	0	OR4A5	51268260	0.000000	0.05858	0.311000	0.25182	0.042000	0.13812	-1.940000	0.01543	0.207000	0.20607	0.136000	0.15936	AGC	OR4A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000221840		0.403	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1		0	51	0	T	NM_001005272		51411684	-1			no_errors	ENST00000319760	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.992	A	A	51411684	T	A	51411684	3	1	80	1	0	0	0	0	1	0	0	0	11082	1580	55	5	239	5	OR4A5	11	51411684	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	5486018	51411684	83594832	153	21154											
OR5B3	441608	genome.wustl.edu	37	chr11	58170641	58170641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttctataaggaatccaGccatgacgatgggagtgaca	12	10	11	8	1	2	2	0	2	2	0	3	5	3	4	2	2	1	0	2	2	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:58170641G>T	ENST00000309403.2	-	1	241	c.242C>A	c.(241-243)gCt>gAt	p.A81D		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGGAATCCAGCCATGACGAT	0.428																																																	0													104	99	101					11																	58170641		2201	4295	6496	SO:0001583	missense	0			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"GPCR / Class A : Olfactory receptors"	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.242C>A	11.37:g.58170641G>T	ENSP00000308270:p.Ala81Asp		Q6IEV6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A81D	ENST00000309403.2	37	c.242	CCDS31549.1	11	.	.	.	.	.	.	.	.	.	.	g	2.501	-0.315201	0.05422	.	.	ENSG00000172769	ENST00000309403	T	0.00382	7.61	4.19	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.612481	0.14602	N	0.309594	T	0.00300	0.0009	L	0.55017	1.72	0.09310	N	1	B	0.18013	0.025	B	0.20767	0.031	T	0.38286	-0.9668	10	0.59425	D	0.04	-11.6554	7.7616	0.28955	0.0:0.2943:0.4038:0.3019	.	81	Q8NH48	OR5B3_HUMAN	D	81	ENSP00000308270:A81D	ENSP00000308270:A81D	A	-	2	0	OR5B3	57927217	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	-0.537000	0.06128	0.112000	0.17975	-0.291000	0.09656	GCT	OR5B3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172769		0.428	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B3	HGNC	protein_coding	OTTHUMT00000394886.1		0	63	0	G	NM_001005469		58170641	-1			no_errors	ENST00000309403	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	58170641	G	T	58170641	3	4	80	1	0	0	0	0	1	0	0	0	11191	971	34	3	704	3	OR5B3	11	58170641	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6758957	58170641	76835875	154	21155											
NPAS4	266743	genome.wustl.edu	37	chr11	66191636	66191636	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcttgtgtgcactccaccTtacacgccccatcagccagg	8	9	8	16	1	2	0	1	0	1	0	3	1	3	0	5	1	3	1	5	1	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:66191636T>G	ENST00000311034.2	+	7	1451	c.1275T>G	c.(1273-1275)ccT>ccG	p.P425P		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	425					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCACTCCACCTTACACGCCCC	0.552																																																	0													182	178	179					11																	66191636		2200	4295	6495	SO:0001819	synonymous_variant	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1275T>G	11.37:g.66191636T>G			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P425	ENST00000311034.2	37	c.1275	CCDS8138.1	11																																																																																			NPAS4	-	NULL	ENSG00000174576		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1		0	22	0	T	NM_178864		66191636	1			no_errors	ENST00000311034	ensembl	human	known	74_37	silent	13.33	52	8	SNP	0.853	G	G	66191636	T	G	66191636	2	3	80	1	0	0	0	0	0	0	0	1	10604	1596	56	4		4	NPAS4	11	66191636	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	8020995	66191636	68814880	155	21156											
NUMA1	4926	genome.wustl.edu	37	chr11	71717113	71717113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactggacaccccggcctggGaacgacgagcagaactgcga	11	3	13	14	4	0	1	0	0	0	1	0	6	0	3	3	3	4	1	3	3	2	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:71717113G>A	ENST00000393695.3	-	22	5991	c.5660C>T	c.(5659-5661)tCc>tTc	p.S1887F	NUMA1_ENST00000358965.6_Missense_Mutation_p.S1873F|NUMA1_ENST00000351960.6_Missense_Mutation_p.S751F	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCGGCCTGGGAACGACGAGC	0.597			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													63	74	71					11																	71717113		2200	4293	6493	SO:0001583	missense	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5660C>T	11.37:g.71717113G>A	ENSP00000377298:p.Ser1887Phe			Missense_Mutation	SNP	superfamily_Prefoldin	p.S1887F	ENST00000393695.3	37	c.5660	CCDS31633.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.119692|4.119692	0.77323|0.77323	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.21191	.|2.02;2.48;2.48	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.000000	.|0.56097	.|D	.|0.000027	T|T	0.34077|0.34077	0.0885|0.0885	N|N	0.24115|0.24115	0.695|0.695	0.46149|0.46149	D|D	0.998897|0.998897	.|D;D;D;D	.|0.71674	.|0.998;0.998;0.998;0.998	.|D;D;D;D	.|0.80764	.|0.994;0.971;0.994;0.967	T|T	0.14062|0.14062	-1.0486|-1.0486	5|10	.|0.72032	.|D	.|0.01	.|.	17.4732|17.4732	0.87652|0.87652	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1893;1873;1887;751	.|Q4LE64;Q14980-2;Q14980;Q9BTE9	.|.;.;NUMA1_HUMAN;.	S|F	736|751;1873;1887;1436;860	.|ENSP00000260051:S751F;ENSP00000351851:S1873F;ENSP00000377298:S1887F	.|ENSP00000260051:S751F	P|S	-|-	1|2	0|0	NUMA1|NUMA1	71394761|71394761	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.675000|0.675000	0.39556|0.39556	5.748000|5.748000	0.68697|0.68697	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	CCC|TCC	NUMA1	-	NULL	ENSG00000137497		0.597	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	-	0	27	0	G			71717113	-1	tier1	-	no_errors	ENST00000393695	ensembl	human	known	74_37	missense	8.24	78	7	SNP	1.000	A	A	71717113	G	A	71717113	3	1	80	1	0	0	0	0	1	0	0	0	10789	1174	41	3	711	3	NUMA1	11	71717113	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5525477	71717113	63289403	156	21157											
ARAP1	116985	genome.wustl.edu	37	chr11	72438099	72438099	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggccatgctgctcaaagagCcccgtgtactgctccaggtg	8	8	12	13	1	1	1	1	0	0	1	2	1	2	1	4	2	5	4	4	2	2	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:72438099C>A	ENST00000393609.3	-	3	277	c.75G>T	c.(73-75)ggG>ggT	p.G25G	ARAP1_ENST00000359373.5_Silent_p.G25G|ARAP1_ENST00000455638.2_Silent_p.G25G	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	25	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCTCAAAGAGCCCCGTGTACT	0.662																																					Ovarian(102;1198 1520 13195 17913 37529)												0													17	22	20					11																	72438099		2092	4201	6293	SO:0001819	synonymous_variant	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.75G>T	11.37:g.72438099C>A			A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.G25	ENST00000393609.3	37	c.75	CCDS41687.1	11																																																																																			ARAP1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000186635		0.662	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	-	0	75	0	C	NM_001040118		72438099	-1	tier1	-	no_errors	ENST00000393609	ensembl	human	known	74_37	silent	13.82	317	51	SNP	0.877	A	A	72438099	C	A	72438099	2	1	80	1	0	0	0	0	0	0	0	1	838	726	26	3		3	ARAP1	11	72438099	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	720986	72438099	62568417	157	21158											
XRRA1	143570	genome.wustl.edu	37	chr11	74651896	74651896	+	Frame_Shift_Del	DEL	C	C	-																															caggtaaggcttcccatcatCcagcttgtagattcctgaga																								rs558916942		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:74651896delC	ENST00000340360.6	-	3	359	c.28delG	c.(28-30)gatfs	p.D11fs	XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.D11fs|XRRA1_ENST00000533598.1_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TTCCCATCATCCAGCTTGTAG	0.517																																																	0													57	57	57					11																	74651896		2145	4273	6418	SO:0001589	frameshift_variant	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.28delG	11.37:g.74651896delC	ENSP00000339918:p.Asp11fs			Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D10fs	ENST00000340360.6	37	c.28	CCDS44680.1	11																																																																																			XRRA1	-	NULL	ENSG00000166435		0.517	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1		0	49	0	C	NM_182969		74651896	-1	tier1		no_errors	ENST00000340360	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-	-	74651896	C	-	74651896	7	5	80	1	0	1	0	1	0	0	0	0	17510	855	30	0	2418	0	XRRA1	11	74651896	Frame_Shift_Del	DEL	C	TCGA-L5-A8NF-01A-11D-A37C-09	2213797	74651896	60354620	158	21159											
PHLDB1	23187	genome.wustl.edu	37	chr11	118502746	118502746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtgaaggagctagagcaGcagctgcaggagtcagcccg	10	5	16	10	2	1	2	1	1	0	1	1	4	1	4	1	2	6	5	1	2	2	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:118502746G>T	ENST00000361417.2	+	9	2628	c.2217G>T	c.(2215-2217)caG>caT	p.Q739H	PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q739H|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	739										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGCTAGAGCAGCAGCTGCAGG	0.632																																																	0													52	54	53					11																	118502746		2200	4295	6495	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"Pleckstrin homology (PH) domain containing"	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2217G>T	11.37:g.118502746G>T	ENSP00000354498:p.Gln739His		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q739H	ENST00000361417.2	37	c.2217	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735522	0.30774	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.30981	1.51;1.51	4.94	3.96	0.45880	.	0.187198	0.49305	D	0.000153	T	0.20292	0.0488	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.13145	0.006;0.002;0.007;0.001	B;B;B;B	0.13407	0.004;0.009;0.004;0.002	T	0.04481	-1.0948	10	0.31617	T	0.26	-30.6424	11.8379	0.52336	0.0:0.1393:0.7345:0.1263	.	483;739;739;739	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	H	739;498;61;739	ENSP00000354498:Q739H;ENSP00000348359:Q739H	ENSP00000348359:Q739H	Q	+	3	2	PHLDB1	118007956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.338000	0.59316	2.298000	0.77334	0.561000	0.74099	CAG	PHLDB1	-	NULL	ENSG00000019144		0.632	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1		0	34	0	G	NM_015157		118502746	1			no_errors	ENST00000361417	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	118502746	G	T	118502746	3	4	80	1	0	0	0	0	1	0	0	0	11890	962	34	3	2243	3	PHLDB1	11	118502746	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	43850850	118502746	16503770	159	21160											
OR8B2	26595	genome.wustl.edu	37	chr11	124252550	124252550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgatcttccttgagtGgatttgatatgaagaatgct	9	17	10	5	0	1	5	0	4	1	1	2	6	2	6	1	1	1	2	1	1	3	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:124252550G>T	ENST00000375013.2	-	1	708	c.690C>A	c.(688-690)tcC>tcA	p.S230S		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTCCTTGAGTGGATTTGATAT	0.378																																																	0													73	80	78					11																	124252550		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"GPCR / Class A : Olfactory receptors"	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.690C>A	11.37:g.124252550G>T			Q8NGH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S230	ENST00000375013.2	37	c.690	CCDS31708.1	11																																																																																			OR8B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204293		0.378	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1	-	0	31	0	G	NM_001005468		124252550	-1	tier1	-	no_errors	ENST00000375013	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.000	T	T	124252550	G	T	124252550	2	4	80	1	0	0	0	0	0	0	0	1	11266	1335	47	3		3	OR8B2	11	124252550	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5749804	124252550	10753966	160	21161											
ACAD8	27034	genome.wustl.edu	37	chr11	134128431	134128431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtgcctggatgattgatAgcttcggaaatgaggaacag	11	11	14	5	1	0	3	0	3	0	0	1	6	0	6	1	3	3	1	1	3	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr11:134128431A>G	ENST00000281182.4	+	4	509	c.403A>G	c.(403-405)Agc>Ggc	p.S135G	ACAD8_ENST00000537423.1_Missense_Mutation_p.S58G|ACAD8_ENST00000543332.1_Missense_Mutation_p.S37G|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	135					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GATGATTGATAGCTTCGGAAA	0.438																																					GBM(65;238 1125 33403 41853 48889)												0													121	89	100					11																	134128431		2201	4297	6498	SO:0001583	missense	0			AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"acyl-Coenzyme A dehydrogenase family, member 8"			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.403A>G	11.37:g.134128431A>G	ENSP00000281182:p.Ser135Gly		B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.S135G	ENST00000281182.4	37	c.403	CCDS8498.1	11	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980782	0.53827	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000537915	D;D;D	0.99711	-6.49;-6.49;-5.2	5.44	-2.43	0.06522	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.367004	0.32918	N	0.005496	D	0.97898	0.9309	L	0.53617	1.68	0.30362	N	0.783717	B;B;B;B;B	0.31026	0.248;0.169;0.304;0.02;0.074	B;B;B;B;B	0.28784	0.094;0.073;0.064;0.026;0.046	D	0.96679	0.9502	10	0.35671	T	0.21	.	1.9759	0.03415	0.4947:0.2:0.1963:0.109	.	76;58;37;37;135	B7Z767;B7Z5W4;B7Z9L5;B7Z7F1;Q9UKU7	.;.;.;.;ACAD8_HUMAN	G	135;58;37;97	ENSP00000281182:S135G;ENSP00000443763:S58G;ENSP00000438302:S37G	ENSP00000281182:S135G	S	+	1	0	ACAD8	133633641	0.644000	0.27277	0.987000	0.45799	0.994000	0.84299	1.679000	0.37597	-0.199000	0.10317	0.533000	0.62120	AGC	ACAD8	-	pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000151498		0.438	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD8	HGNC	protein_coding	OTTHUMT00000393607.1	-	0	50	0	A	NM_014384		134128431	1	tier1	-	no_errors	ENST00000281182	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.987	G	G	134128431	A	G	134128431	3	3	80	1	0	0	0	0	1	0	0	0	110	420	15	4	417	4	ACAD8	11	134128431	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	9875881	134128431	878085	161	21162											
SLC6A12	6539	genome.wustl.edu	37	chr12	305292	305292	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggccgcagctcacctCggtgaccaggaaaagcccta	9	4	12	16	4	1	1	1	1	0	0	2	2	1	2	5	4	2	2	5	4	3	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:305292C>A	ENST00000428720.1	-	12	2067	c.1324G>T	c.(1324-1326)Gag>Tag	p.E442*	SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.E442*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.E442*|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.E442*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.E442*|RP11-283I3.1_ENST00000544067.1_RNA|SLC6A12_ENST00000538272.1_5'Flank	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	442					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CAGCTCACCTCGGTGACCAGG	0.647																																																	0													15	17	16					12																	305292		2159	4220	6379	SO:0001587	stop_gained	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"Solute carriers"	11045	protein-coding gene	gene with protein product	"betaine/GABA transporter-1"	603080	"solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.1324G>T	12.37:g.305292C>A	ENSP00000388184:p.Glu442*		A0AV52|B2R992|D3DUN8	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.E442*	ENST00000428720.1	37	c.1324	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.324418	0.97476	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	.	.	.	5.45	4.56	0.56223	.	0.060356	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.3667	0.66810	0.0:0.9283:0.0:0.0717	.	.	.	.	X	442	.	ENSP00000352702:E442X	E	-	1	0	SLC6A12	175553	0.978000	0.34361	0.890000	0.34922	0.435000	0.31806	2.513000	0.45494	1.308000	0.44962	0.563000	0.77884	GAG	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000111181		0.647	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2		0	40	0	C	NM_003044		305292	-1			no_errors	ENST00000359674	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.846	A	A	305292	C	A	305292	4	1	80	1	0	0	0	0	0	1	0	0	14720	893	31	2	540	2	SLC6A12	12	305292	Nonsense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		305292	133546603	162	21163											
AICDA	57379	genome.wustl.edu	37	chr12	8759587	8759587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgaattggtaaagaaaCttcctccggttcatcaagag	12	14	8	7	1	2	3	2	1	0	2	4	3	4	3	2	2	1	2	2	2	5	6	rs387906328		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:8759587C>A	ENST00000229335.6	-	2	133	c.30G>T	c.(28-30)aaG>aaT	p.K10N	AICDA_ENST00000537228.1_Missense_Mutation_p.K10N	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	10	Interaction with SUPT6H.|Nuclear localization signal.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTAAAGAAACTTCCTCCGGT	0.468																																					GBM(62;896 1067 5527 26594 30137)												0													44	43	44					12																	8759587		1904	4108	6012	SO:0001583	missense	0			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.30G>T	12.37:g.8759587C>A	ENSP00000229335:p.Lys10Asn		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.K10N	ENST00000229335.6	37	c.30	CCDS41747.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.780|9.780	1.175182|1.175182	0.21704|0.21704	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000229335;ENST00000537228|ENST00000543081;ENST00000544516;ENST00000545512	T;T|.	0.65364|.	-0.15;-0.15|.	5.36|5.36	3.2|3.2	0.36748|0.36748	APOBEC-like, N-terminal (1);|.	0.326972|.	0.35291|.	N|.	0.003302|.	T|T	0.63558|0.63558	0.2521|0.2521	M|M	0.70595|0.70595	2.14|2.14	0.49798|0.49798	D|D	0.999826|0.999826	B;P;B|.	0.38250|.	0.314;0.624;0.314|.	B;B;B|.	0.32864|.	0.098;0.154;0.098|.	T|T	0.62148|0.62148	-0.6915|-0.6915	10|5	0.87932|.	D|.	0|.	-5.6687|-5.6687	8.1384|8.1384	0.31069|0.31069	0.0:0.6911:0.1372:0.1716|0.0:0.6911:0.1372:0.1716	.|.	10;10;10|.	Q9GZX7;Q6QJ80;Q6QJ81|.	AICDA_HUMAN;.;.|.	N|I	10|9	ENSP00000229335:K10N;ENSP00000445691:K10N|.	ENSP00000229335:K10N|.	K|S	-|-	3|2	2|0	AICDA|AICDA	8650854|8650854	0.986000|0.986000	0.35501|0.35501	0.951000|0.951000	0.38953|0.38953	0.151000|0.151000	0.21798|0.21798	0.237000|0.237000	0.17985|0.17985	1.268000|1.268000	0.44264|0.44264	-0.363000|-0.363000	0.07495|0.07495	AAG|AGT	AICDA	-	pfam_APOBEC_N	ENSG00000111732		0.468	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AICDA	HGNC	protein_coding	OTTHUMT00000400575.1	-	0	41	0	C	NM_020661		8759587	-1	tier1	-	no_errors	ENST00000229335	ensembl	human	known	74_37	missense	10.71	50	6	SNP	0.970	A	A	8759587	C	A	8759587	3	1	80	1	0	0	0	0	1	0	0	0	422	564	20	3	582	3	AICDA	12	8759587	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	8454295	8759587	125092308	163	21164											
LRRK2	120892	genome.wustl.edu	37	chr12	40634305	40634305	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaggagcaactgactGaatttgttgagaacaaagat	15	10	10	6	0	1	5	1	3	1	3	2	7	1	6	0	1	3	2	0	1	4	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:40634305G>T	ENST00000298910.7	+	6	650	c.592G>T	c.(592-594)Gaa>Taa	p.E198*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.E198*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	198					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCAACTGACTGAATTTGTTGA	0.274																																																	0													86	86	86					12																	40634305		2203	4297	6500	SO:0001587	stop_gained	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.592G>T	12.37:g.40634305G>T	ENSP00000298910:p.Glu198*		A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.E198*	ENST00000298910.7	37	c.592	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.833266	0.97873	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.2426	0.89973	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000298910:E198X	E	+	1	0	LRRK2	38920572	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	6.989000	0.76219	2.613000	0.88420	0.650000	0.86243	GAA	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.274	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	34	0	G	XM_058513		40634305	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	nonsense	23.33	23	7	SNP	1.000	T	T	40634305	G	T	40634305	4	4	80	1	0	0	0	0	0	1	0	0	9068	1291	45	3	614	3	LRRK2	12	40634305	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	31874718	40634305	93217590	164	21165											
PDZRN4	29951	genome.wustl.edu	37	chr12	41957441	41957441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgcttgttgcaaggcCagagattcaggtcagaacag	10	9	13	9	1	2	2	2	0	0	2	2	3	2	2	1	2	4	4	1	2	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:41957441C>T	ENST00000402685.2	+	8	1465	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	PDZRN4_ENST00000298919.7_Missense_Mutation_p.P226L|PDZRN4_ENST00000539469.2_Missense_Mutation_p.P228L	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	486	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.						ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTTGCAAGGCCAGAGATTCAG	0.388																																																	0													111	104	106					12																	41957441		2203	4300	6503	SO:0001583	missense	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1457C>T	12.37:g.41957441C>T	ENSP00000384197:p.Pro486Leu		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.P486L	ENST00000402685.2	37	c.1457	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807051	0.90623	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.44083	0.93;0.93;0.93	5.19	5.19	0.71726	PDZ/DHR/GLGF (2);	0.000000	0.64402	D	0.000001	T	0.58793	0.2147	L	0.41236	1.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.60424	-0.7266	10	0.87932	D	0	-21.5435	19.6008	0.95560	0.0:1.0:0.0:0.0	.	486;226;228	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	L	486;228;226	ENSP00000384197:P486L;ENSP00000439990:P228L;ENSP00000298919:P226L	ENSP00000298919:P226L	P	+	2	0	PDZRN4	40243708	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	7.772000	0.85439	2.791000	0.96007	0.655000	0.94253	CCA	PDZRN4	-	superfamily_PDZ,smart_PDZ	ENSG00000165966		0.388	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1		0	25	0	C	NM_013377		41957441	1			no_errors	ENST00000402685	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	41957441	C	T	41957441	3	4	80	1	0	0	0	0	1	0	0	0	11749	594	21	3	1560	3	PDZRN4	12	41957441	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1323136	41957441	91894454	165	21166											
NELL2	4753	genome.wustl.edu	37	chr12	45000977	45000977	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagctgggtccagtgaaGccttgtgggcaggcacacac	9	7	13	12	0	1	1	1	1	0	0	2	1	2	1	2	3	2	3	2	3	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:45000977G>C	ENST00000429094.2	-	15	2142	c.1638C>G	c.(1636-1638)ggC>ggG	p.G546G	NELL2_ENST00000333837.4_Silent_p.G569G|NELL2_ENST00000549027.1_Silent_p.G545G|NELL2_ENST00000395487.2_Silent_p.G545G|NELL2_ENST00000437801.2_Silent_p.G596G|NELL2_ENST00000551601.1_Silent_p.G545G|NELL2_ENST00000452445.2_Silent_p.G546G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	546	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GTCCAGTGAAGCCTTGTGGGC	0.388																																																	0													83	80	81					12																	45000977		2203	4299	6502	SO:0001819	synonymous_variant	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1638C>G	12.37:g.45000977G>C			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.G596	ENST00000429094.2	37	c.1788	CCDS8746.1	12																																																																																			NELL2	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184613		0.388	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1		0	38	0	G	NM_006159		45000977	-1			no_errors	ENST00000437801	ensembl	human	known	74_37	silent	5.77	49	3	SNP	1.000	C	C	45000977	G	C	45000977	2	2	80	1	0	0	0	0	0	0	0	1	10373	958	34	5		5	NELL2	12	45000977	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	3043536	45000977	88850918	166	21167											
LIMA1	51474	genome.wustl.edu	37	chr12	50615967	50615967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccatttttttactttctGttgagtggtctttaagatcc	6	22	6	7	0	2	2	0	1	2	1	4	2	4	2	2	1	1	1	2	1	2	9			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:50615967G>A	ENST00000341247.4	-	4	616	c.467C>T	c.(466-468)aCa>aTa	p.T156I	LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.T156I|LIMA1_ENST00000552909.1_5'UTR|LIMA1_ENST00000552823.1_5'UTR|LIMA1_ENST00000552008.1_5'Flank|RP3-405J10.4_ENST00000551284.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	156					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTACTTTCTGTTGAGTGGTC	0.433																																																	0													155	139	144					12																	50615967		2203	4300	6503	SO:0001583	missense	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.467C>T	12.37:g.50615967G>A	ENSP00000340184:p.Thr156Ile		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.T156I	ENST00000341247.4	37	c.467	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462341	0.26248	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000420992	D;T	0.84516	-1.86;-1.13	5.93	1.58	0.23477	.	0.804031	0.11818	N	0.526550	T	0.77644	0.4161	L	0.47716	1.5	0.19775	N	0.999955	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.64664	-0.6354	10	0.38643	T	0.18	.	6.1292	0.20195	0.1575:0.0:0.5629:0.2796	.	165;156	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	I	156;156;75	ENSP00000378400:T156I;ENSP00000340184:T156I	ENSP00000340184:T156I	T	-	2	0	LIMA1	48902234	0.000000	0.05858	0.031000	0.17742	0.977000	0.68977	-0.096000	0.11059	0.829000	0.34733	0.655000	0.94253	ACA	LIMA1	-	NULL	ENSG00000050405		0.433	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0	61	0	G	NM_016357		50615967	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.004	A	A	50615967	G	A	50615967	3	1	80	1	0	0	0	0	1	0	0	0	8825	1377	48	3	1847	3	LIMA1	12	50615967	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5614990	50615967	83235928	167	21168											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72057007	72057007	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaaagacggccggggActgctttcggacagtgagct	9	7	14	11	3	0	3	0	1	0	2	2	5	1	5	2	4	2	2	2	4	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:72057007A>T	ENST00000378743.3	-	1	742	c.384T>A	c.(382-384)agT>agA	p.S128R	ZFC3H1_ENST00000549407.1_5'UTR|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S128R|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S128R	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	128	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACGGCCGGGGACTGCTTTCGG	0.657																																																	0													64	71	69					12																	72057007		1956	4129	6085	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.384T>A	12.37:g.72057007A>T	ENSP00000368017:p.Ser128Arg		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.S128R	ENST00000378743.3	37	c.384	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833301	0.32421	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.36520	1.25	4.47	2.37	0.29283	.	0.335860	0.26753	N	0.022669	T	0.19565	0.0470	N	0.14661	0.345	0.80722	D	1	B;B;B	0.14805	0.011;0.005;0.0	B;B;B	0.18263	0.021;0.003;0.0	T	0.04678	-1.0934	10	0.56958	D	0.05	.	6.2299	0.20728	0.1879:0.1512:0.6608:0.0	.	128;128;128	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	R	128	ENSP00000368017:S128R	ENSP00000368017:S128R	S	-	3	2	ZFC3H1	70343274	1.000000	0.71417	0.999000	0.59377	0.327000	0.28475	1.583000	0.36579	0.556000	0.29098	-0.345000	0.07892	AGT	ZFC3H1	-	NULL	ENSG00000133858		0.657	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	-	0	62	0	A	NM_144982		72057007	-1	tier1	-	no_errors	ENST00000378743	ensembl	human	known	74_37	missense	25.98	94	33	SNP	1.000	T	T	72057007	A	T	72057007	3	4	80	1	0	0	0	0	1	0	0	0	17681	272	10	5	5725	5	ZFC3H1	12	72057007	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	21441040	72057007	61794888	168	21169											
UTP20	27340	genome.wustl.edu	37	chr12	101764854	101764854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaattttatcaagaaagCtgttggtcccagaaatcgat	14	11	9	7	1	1	2	1	0	0	2	3	3	2	2	1	2	1	3	1	2	5	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:101764854C>T	ENST00000261637.4	+	51	6880	c.6706C>T	c.(6706-6708)Ctg>Ttg	p.L2236L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2236					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L2236L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCAAGAAAGCTGTTGGTCCC	0.448																																																	1	Substitution - coding silent(1)	prostate(1)											143	139	140					12																	101764854		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6706C>T	12.37:g.101764854C>T			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L2236	ENST00000261637.4	37	c.6706	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1		0	32	0	C	NM_014503		101764854	1			no_errors	ENST00000261637	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.816	T	T	101764854	C	T	101764854	2	4	80	1	0	0	0	0	0	0	0	1	17148	796	28	3		3	UTP20	12	101764854	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	29707847	101764854	32087041	169	21170											
UBE3B	89910	genome.wustl.edu	37	chr12	109972420	109972420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggacactctgggcagcGtcctccggggcttcttcacc	4	8	13	16	3	3	0	1	0	2	0	5	1	5	1	4	5	1	2	4	5	0	2	rs376853832		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:109972420G>A	ENST00000342494.3	+	28	3635	c.3040G>A	c.(3040-3042)Gtc>Atc	p.V1014I	UBE3B_ENST00000434735.2_Missense_Mutation_p.V1014I	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	1014	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCTGGGCAGCGTCCTCCGGGG	0.642																																																	0								G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	44	45	45		3040,3040	5.3	1	12		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UBE3B	NM_130466.2,NM_183415.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1014/1069,1014/1069	109972420	1,13005	2203	4300	6503	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.3040G>A	12.37:g.109972420G>A	ENSP00000340596:p.Val1014Ile		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.V1014I	ENST00000342494.3	37	c.3040	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.530174	0.96446	0.0	1.16E-4	ENSG00000151148	ENST00000434735;ENST00000342494	T;T	0.39229	1.09;1.09	5.3	5.3	0.74995	HECT (4);	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	M	0.79805	2.47	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.71414	-0.4600	10	0.66056	D	0.02	-34.1852	17.9631	0.89092	0.0:0.0:1.0:0.0	.	1014	Q7Z3V4	UBE3B_HUMAN	I	1014	ENSP00000391529:V1014I;ENSP00000340596:V1014I	ENSP00000340596:V1014I	V	+	1	0	UBE3B	108456803	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.385000	0.97223	2.474000	0.83562	0.563000	0.77884	GTC	UBE3B	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000151148		0.642	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	-	0	25	0	G	NM_183415		109972420	1	tier1	-	no_errors	ENST00000342494	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A	A	109972420	G	A	109972420	3	1	80	1	0	0	0	0	1	0	0	0	16929	1145	40	1	3142	1	UBE3B	12	109972420	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	8207566	109972420	23879475	170	21171											
C12orf51	283450	genome.wustl.edu	37	chr12	112757112	112757112	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgtgtcagaagtctcCtctagccaagagcacagcaa	11	7	10	13	1	3	2	1	0	2	2	4	2	3	2	3	1	3	2	3	1	4	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:112757112C>T	ENST00000430131.2	-	0	575				HECTD4_ENST00000550722.1_Silent_p.E60E|HECTD4_ENST00000377560.5_Silent_p.E60E			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CAGAAGTCTCCTCTAGCCAAG	0.498																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.-571G>A	12.37:g.112757112C>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.E60	ENST00000430131.2	37	c.180		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.498	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	67	0	C	NM_173813		112757112	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	T	T	112757112	C	T	112757112	1	4	80	0	1	0	0	0	0	0	0	0	1701	680	24	3		3	C12orf51	12	112757112	5'UTR	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2784692	112757112	21094783	171	21172											
TBX5	6910	genome.wustl.edu	37	chr12	114793480	114793480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggactgcaggccagtctgagGcccacactgcctgaccacag	9	5	12	15	0	1	2	0	2	1	0	1	3	1	3	4	3	2	1	4	3	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:114793480G>T	ENST00000310346.4	-	9	2080	c.1414C>A	c.(1414-1416)Cct>Act	p.P472T	TBX5_ENST00000349716.5_Missense_Mutation_p.P422T|TBX5_ENST00000405440.2_Missense_Mutation_p.P472T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	472					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCAGTCTGAGGCCCACACTGC	0.627																																					NSCLC(152;1358 1980 4050 23898 40356)												0													35	36	36					12																	114793480		2203	4300	6503	SO:0001583	missense	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"T-boxes"	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1414C>A	12.37:g.114793480G>T	ENSP00000309913:p.Pro472Thr		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P472T	ENST00000310346.4	37	c.1414	CCDS9173.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500018	0.85176	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.59224	0.28;0.28;0.28	5.42	5.42	0.78866	.	0.568268	0.19070	N	0.123530	T	0.51534	0.1680	L	0.34521	1.04	0.80722	D	1	P	0.43024	0.798	B	0.39465	0.3	T	0.57728	-0.7761	10	0.62326	D	0.03	.	19.2304	0.93836	0.0:0.0:1.0:0.0	.	472	Q99593	TBX5_HUMAN	T	422;472;369;472	ENSP00000337723:P422T;ENSP00000309913:P472T;ENSP00000384152:P472T	ENSP00000309913:P472T	P	-	1	0	TBX5	113277863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.540000	0.85666	0.655000	0.94253	CCT	TBX5	-	NULL	ENSG00000089225		0.627	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1	-	0	50	0	G	NM_080717		114793480	-1	tier1	-	no_errors	ENST00000310346	ensembl	human	known	74_37	missense	9.09	38	4	SNP	1.000	T	T	114793480	G	T	114793480	3	4	80	1	0	0	0	0	1	0	0	0	15708	1203	42	3	146	3	TBX5	12	114793480	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	2036368	114793480	19058415	172	21173											
RAB35	11021	genome.wustl.edu	37	chr12	120541663	120541663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggaagcgctcctgccccGctgtgtcccagatctgcagc	5	8	12	16	3	1	1	0	0	1	1	3	2	3	2	4	1	5	3	4	1	1	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:120541663G>A	ENST00000229340.5	-	3	382	c.194C>T	c.(193-195)gCg>gTg	p.A65V	RAB35_ENST00000534951.1_Missense_Mutation_p.A65V	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	65					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCCTGCCCCGCTGTGTCCCA	0.617																																																	0													118	139	132					12																	120541663		2203	4300	6503	SO:0001583	missense	0			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"RAB, member RAS oncogene"	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.194C>T	12.37:g.120541663G>A	ENSP00000229340:p.Ala65Val		B2R6E0|B4E390	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A65V	ENST00000229340.5	37	c.194	CCDS41846.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.243353	0.95272	.	.	ENSG00000111737	ENST00000229340;ENST00000427416;ENST00000534951;ENST00000538903	D;D;D	0.88818	-2.43;-2.43;-2.43	5.93	5.04	0.67666	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96408	0.8828	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97704	1.0186	10	0.87932	D	0	.	15.1511	0.72700	0.0674:0.0:0.9326:0.0	.	65;65	B4E390;Q15286	.;RAB35_HUMAN	V	65	ENSP00000229340:A65V;ENSP00000441883:A65V;ENSP00000443994:A65V	ENSP00000229340:A65V	A	-	2	0	RAB35	119026046	1.000000	0.71417	0.095000	0.20976	0.950000	0.60333	9.865000	0.99609	1.534000	0.49203	-0.141000	0.14075	GCG	RAB35	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000111737		0.617	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2	-	0	41	0	G			120541663	-1	tier1	-	no_errors	ENST00000229340	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.999	A	A	120541663	G	A	120541663	3	1	80	1	0	0	0	0	1	0	0	0	12970	1087	38	1	427	1	RAB35	12	120541663	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5748183	120541663	13310232	173	21174											
SCARB1	949	genome.wustl.edu	37	chr12	125294827	125294827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactgatcggaatgccaGaagtcaacctggggggaagc	11	7	14	9	1	1	2	1	1	0	1	2	4	1	4	2	4	4	1	2	4	4	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr12:125294827G>T	ENST00000415380.2	-	6	860	c.735C>A	c.(733-735)ttC>ttA	p.F245L	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000540495.1_Missense_Mutation_p.F208L|SCARB1_ENST00000339570.5_Missense_Mutation_p.F245L|SCARB1_ENST00000261693.6_Missense_Mutation_p.F245L|SCARB1_ENST00000544327.1_Missense_Mutation_p.F191L|SCARB1_ENST00000541205.1_Missense_Mutation_p.F204L|SCARB1_ENST00000376788.1_Missense_Mutation_p.F145L|SCARB1_ENST00000546215.1_Missense_Mutation_p.F245L			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	245					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGGAATGCCAGAAGTCAACCT	0.567																																																	0													75	66	69					12																	125294827		2203	4300	6503	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.735C>A	12.37:g.125294827G>T	ENSP00000414979:p.Phe245Leu		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.F245L	ENST00000415380.2	37	c.735		12	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609828	0.46527	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.29	2.45	0.29901	.	0.520190	0.22687	N	0.056878	T	0.71500	0.3347	M	0.79343	2.45	0.37254	D	0.906699	P;B;P;P;B;P	0.41673	0.566;0.238;0.759;0.759;0.2;0.576	B;B;B;B;B;B	0.43990	0.438;0.257;0.438;0.438;0.167;0.234	T	0.72883	-0.4157	10	0.66056	D	0.02	-19.0902	8.2147	0.31505	0.3121:0.0:0.6879:0.0	.	204;245;245;245;245;245	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	L	245;245;245;145;245;204;191;208	ENSP00000343795:F245L;ENSP00000414979:F245L;ENSP00000261693:F245L;ENSP00000365984:F145L;ENSP00000442862:F245L;ENSP00000446107:F204L;ENSP00000444851:F191L;ENSP00000443286:F208L	ENSP00000261693:F245L	F	-	3	2	SCARB1	123860780	1.000000	0.71417	0.292000	0.24919	0.651000	0.38670	2.503000	0.45407	0.223000	0.20920	0.462000	0.41574	TTC	SCARB1	-	pfam_CD36	ENSG00000073060		0.567	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	-	0	54	0	G	NM_005505		125294827	-1	tier1	-	no_errors	ENST00000415380	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.949	T	T	125294827	G	T	125294827	3	4	80	1	0	0	0	0	1	0	0	0	13926	933	33	3	946	3	SCARB1	12	125294827	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	4753164	125294827	8557068	174	21175											
TPTE2	93492	genome.wustl.edu	37	chr13	20048088	20048089	+	Frame_Shift_Ins	INS	-	-	A																															cgaagaagaacatccatgagINSaaaaaataagccaatagcta																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr13:20048088_20048089insA	ENST00000400230.2	-	6	401_402	c.357_358insT	c.(355-360)tttctcfs	p.L120fs	TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000255310.6_Frame_Shift_Ins_p.L83fs|TPTE2_ENST00000382975.4_Frame_Shift_Ins_p.L120fs|TPTE2_ENST00000382978.1_Frame_Shift_Ins_p.L120fs|TPTE2_ENST00000390680.2_Frame_Shift_Ins_p.L83fs|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Ins_p.L120fs			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	120					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACATCCATGAGAAAAAATAAGC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.358dupT	13.37:g.20048094_20048094dupA	ENSP00000383089:p.Leu120fs		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.L119fs	ENST00000400230.2	37	c.358_357	CCDS45014.1	13																																																																																			TPTE2	-	pfam_Ion_trans_dom	ENSG00000132958		0.347	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	HGNC	protein_coding			0	158	0	-	NM_199254		20048089	-1	tier1		no_errors	ENST00000382977	ensembl	human	known	74_37	frame_shift_ins	13.36	201	31	INS	0.050:0.090	A	A	20048089	-	A	20048088	7	5	80	1	0	1	1	0	0	0	0	0	16479	942	33	0	1270	0	TPTE2	13	20048088	Frame_Shift_Ins	INS	-	TCGA-L5-A8NF-01A-11D-A37C-09		20048088	95121790	175	21176											
NUPL1	9818	genome.wustl.edu	37	chr13	25911128	25911128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccattcggctcaggtattgGcactggcttgcaatcaagtg	8	11	12	10	1	2	0	2	0	0	0	3	0	2	0	1	4	1	5	1	4	3	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr13:25911128G>A	ENST00000381736.3	+	14	1740	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.G485D	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	497	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TCAGGTATTGGCACTGGCTTG	0.363																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)												0													77	75	76					13																	25911128		2203	4300	6503	SO:0001583	missense	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1490G>A	13.37:g.25911128G>A	ENSP00000371155:p.Gly497Asp		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.G497D	ENST00000381736.3	37	c.1490	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140320	0.77775	.	.	ENSG00000139496	ENST00000381736;ENST00000313619;ENST00000381718	T;T	0.36520	1.26;1.25	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	L	0.60455	1.87	0.80722	D	1	D;D	0.58620	0.983;0.983	P;P	0.56865	0.808;0.808	T	0.48375	-0.9041	10	0.59425	D	0.04	-7.3109	12.7788	0.57464	0.0747:0.0:0.9253:0.0	.	485;497	A6NI12;Q9BVL2	.;NUPL1_HUMAN	D	497;474;485	ENSP00000371155:G497D;ENSP00000371137:G485D	ENSP00000318459:G474D	G	+	2	0	NUPL1	24809128	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.130000	0.77235	2.617000	0.88574	0.585000	0.79938	GGC	NUPL1	-	NULL	ENSG00000139496		0.363	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2		0	44	0	G			25911128	1			no_errors	ENST00000381736	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	25911128	G	A	25911128	3	1	80	1	0	0	0	0	1	0	0	0	10813	1203	42	3	1544	3	NUPL1	13	25911128	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5863040	25911128	89258750	176	21177											
BRCA2	675	genome.wustl.edu	37	chr13	32912267	32912267	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagaggtacatccaataAgtttatcttcaagtaaatgt	14	13	7	7	0	2	1	1	0	1	1	3	1	3	1	1	1	2	4	1	1	7	6	rs587782071		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr13:32912267A>C	ENST00000380152.3	+	11	4008	c.3775A>C	c.(3775-3777)Agt>Cgt	p.S1259R	BRCA2_ENST00000544455.1_Missense_Mutation_p.S1259R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1259					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACATCCAATAAGTTTATCTTC	0.294			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													36	37	36					13																	32912267		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3775A>C	13.37:g.32912267A>C	ENSP00000369497:p.Ser1259Arg		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.S1259R	ENST00000380152.3	37	c.3775	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780762	0.31502	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00808	5.67;5.67	5.28	2.86	0.33363	.	0.815977	0.11409	N	0.566936	T	0.01454	0.0047	L	0.57536	1.79	0.09310	N	1	B	0.17465	0.022	B	0.15052	0.012	T	0.42716	-0.9435	10	0.51188	T	0.08	.	7.6893	0.28559	0.8193:0.0:0.1807:0.0	.	1259	P51587	BRCA2_HUMAN	R	1259	ENSP00000369497:S1259R;ENSP00000439902:S1259R	ENSP00000369497:S1259R	S	+	1	0	BRCA2	31810267	0.001000	0.12720	0.001000	0.08648	0.819000	0.46315	0.828000	0.27435	0.337000	0.23665	0.528000	0.53228	AGT	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.294	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	18	0	A	NM_000059		32912267	1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.004	C	C	32912267	A	C	32912267	3	2	80	1	0	0	0	0	1	0	0	0	1503	72	3	4	3813	4	BRCA2	13	32912267	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	7001139	32912267	82257611	177	21178											
NBEA	26960	genome.wustl.edu	37	chr13	35644148	35644148	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcattgcctttacatataAtgctaaggccactgatgctc	11	13	7	10	0	0	1	0	1	0	0	1	1	0	1	2	1	5	3	2	1	5	7			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr13:35644148A>C	ENST00000400445.3	+	9	1877	c.1343A>C	c.(1342-1344)aAt>aCt	p.N448T	NBEA_ENST00000540320.1_Missense_Mutation_p.N448T|NBEA_ENST00000379939.2_Missense_Mutation_p.N448T|NBEA_ENST00000310336.4_Missense_Mutation_p.N448T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	448					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTACATATAATGCTAAGGCC	0.403																																																	0													56	50	52					13																	35644148		1898	4123	6021	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1343A>C	13.37:g.35644148A>C	ENSP00000383295:p.Asn448Thr		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.N448T	ENST00000400445.3	37	c.1343	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593177	0.86953	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	M	0.82823	2.61	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.81767	-0.0782	10	0.46703	T	0.11	.	15.6509	0.77091	1.0:0.0:0.0:0.0	.	448	Q5T321	.	T	448	ENSP00000440951:N448T;ENSP00000383295:N448T;ENSP00000369271:N448T;ENSP00000308534:N448T	ENSP00000308534:N448T	N	+	2	0	NBEA	34542148	1.000000	0.71417	0.900000	0.35374	0.938000	0.57974	9.296000	0.96104	2.100000	0.63781	0.254000	0.18369	AAT	NBEA	-	NULL	ENSG00000172915		0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	169	0	A	NM_015678		35644148	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	19.74	187	46	SNP	1.000	C	C	35644148	A	C	35644148	3	2	80	1	0	0	0	0	1	0	0	0	10225	101	4	4	1377	4	NBEA	13	35644148	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	2731881	35644148	79525730	178	21179											
TRPC4	7223	genome.wustl.edu	37	chr13	38320271	38320271	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgacttgaattcattttCcaccttgctcagttcctgaa	8	15	5	13	1	2	2	2	2	0	0	5	3	5	2	4	0	1	2	4	0	2	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr13:38320271C>A	ENST00000379705.3	-	3	1557	c.700G>T	c.(700-702)Gaa>Taa	p.E234*	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.E234*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.E234*|TRPC4_ENST00000426868.2_Nonsense_Mutation_p.E234*|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.E234*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.E234*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.E234*			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	234					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATTCATTTTCCACCTTGCTC	0.468																																																	0													134	121	125					13																	38320271		2203	4300	6503	SO:0001587	stop_gained	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.700G>T	13.37:g.38320271C>A	ENSP00000369027:p.Glu234*		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.E234*	ENST00000379705.3	37	c.700	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	C	40	8.521024	0.98848	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	6.07	6.07	0.98685	.	0.043108	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.7518	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	234	.	ENSP00000348025:E234X	E	-	1	0	TRPC4	37218271	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAA	TRPC4	-	pfam_TRP_dom,tigrfam_TRP_channel	ENSG00000133107		0.468	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0	52	0	C	NM_003306		38320271	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	nonsense	12.07	51	7	SNP	1.000	A	A	38320271	C	A	38320271	4	1	80	1	0	0	0	0	0	1	0	0	16628	864	30	3	2284	3	TRPC4	13	38320271	Nonsense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2676123	38320271	76849607	179	21180											
CAB39L	81617	genome.wustl.edu	37	chr13	49951208	49951208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgttgggggttctttctcGtttgtaccacacagaatttc	6	17	9	9	1	3	1	0	0	3	1	5	1	3	1	1	2	1	4	1	2	2	6	rs141795356	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr13:49951208G>A	ENST00000355854.4	-	3	668	c.171C>T	c.(169-171)aaC>aaT	p.N57N	CAB39L_ENST00000410043.1_Silent_p.N57N|CAB39L_ENST00000409308.1_Silent_p.N57N|CAB39L_ENST00000347776.5_Silent_p.N57N	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	57					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GTTCTTTCTCGTTTGTACCAC	0.438																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	122	118	119		171,171	1.7	0.9	13	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	CAB39L	NM_001079670.1,NM_030925.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	57/338,57/338	49951208	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.171C>T	13.37:g.49951208G>A			Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.N57	ENST00000355854.4	37	c.171	CCDS9416.2	13																																																																																			CAB39L	-	pfam_Mo25,superfamily_ARM-type_fold	ENSG00000102547		0.438	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	HGNC	protein_coding	OTTHUMT00000044908.3		0	43	0	G	NM_030925		49951208	-1			no_errors	ENST00000347776	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.557	A	A	49951208	G	A	49951208	2	1	80	1	0	0	0	0	0	0	0	1	2533	1136	40	1		1	CAB39L	13	49951208	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	11630937	49951208	65218670	180	21181											
SLITRK1	114798	genome.wustl.edu	37	chr13	84455568	84455568	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaggaacagatcttctcTttgcaaacgtcccctgtaac	10	12	7	12	1	2	1	0	0	2	1	4	2	3	2	2	1	5	3	2	1	3	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr13:84455568T>G	ENST00000377084.2	-	1	960	c.75A>C	c.(73-75)aaA>aaC	p.K25N		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	25	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGATCTTCTCTTTGCAAACGT	0.483																																																	0													92	91	92					13																	84455568		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.75A>C	13.37:g.84455568T>G	ENSP00000366288:p.Lys25Asn		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K25N	ENST00000377084.2	37	c.75	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697590	0.30142	.	.	ENSG00000178235	ENST00000377084	T	0.58940	0.3	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.48732	0.1516	L	0.41824	1.3	0.50039	D	0.999849	P	0.47409	0.895	B	0.41236	0.351	T	0.52049	-0.8627	10	0.44086	T	0.13	-11.1236	13.2304	0.59941	0.0:0.0:0.0:1.0	.	25	Q96PX8	SLIK1_HUMAN	N	25	ENSP00000366288:K25N	ENSP00000366288:K25N	K	-	3	2	SLITRK1	83353569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.418000	0.52721	2.050000	0.60909	0.459000	0.35465	AAA	SLITRK1	-	NULL	ENSG00000178235		0.483	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	-	0	23	0	T	NM_052910		84455568	-1	tier1	-	no_errors	ENST00000377084	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	G	G	84455568	T	G	84455568	3	3	80	1	0	0	0	0	1	0	0	0	14787	1606	56	4	2019	4	SLITRK1	13	84455568	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	34504360	84455568	30714310	181	21182											
EFS	10278	genome.wustl.edu	37	chr14	23829784	23829784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggtcctcattgctgtGatctggggctggatatggtg	4	14	14	9	0	2	1	1	1	1	0	4	2	4	2	2	5	1	2	2	5	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr14:23829784G>T	ENST00000216733.3	-	2	884	c.277C>A	c.(277-279)Cac>Aac	p.H93N	EFS_ENST00000351354.3_Intron|EFS_ENST00000429593.2_Intron	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	93	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		TCATTGCTGTGATCTGGGGCT	0.652																																																	0													62	62	62					14																	23829784		2202	4298	6500	SO:0001583	missense	0			AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"Cas scaffolding proteins"	16898	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 3"	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.277C>A	14.37:g.23829784G>T	ENSP00000216733:p.His93Asn		B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.H93N	ENST00000216733.3	37	c.277	CCDS9595.1	14	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238348	0.22711	.	.	ENSG00000100842	ENST00000216733	T	0.40756	1.02	4.99	4.99	0.66335	Src homology-3 domain (1);	0.997194	0.08128	N	0.993678	T	0.30262	0.0759	N	0.22421	0.69	0.20074	N	0.999932	B	0.11235	0.004	B	0.06405	0.002	T	0.08576	-1.0715	10	0.16896	T	0.51	-2.0319	11.1041	0.48193	0.0:0.0:0.8156:0.1844	.	93	O43281	EFS_HUMAN	N	93	ENSP00000216733:H93N	ENSP00000216733:H93N	H	-	1	0	EFS	22899624	0.001000	0.12720	0.846000	0.33378	0.981000	0.71138	1.124000	0.31320	2.769000	0.95229	0.563000	0.77884	CAC	EFS	-	superfamily_SH3_domain	ENSG00000100842		0.652	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFS	HGNC	protein_coding	OTTHUMT00000071770.2		0	98	0	G			23829784	-1			no_errors	ENST00000216733	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.016	T	T	23829784	G	T	23829784	3	4	80	1	0	0	0	0	1	0	0	0	4973	1290	45	3	1428	3	EFS	14	23829784	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09		23829784	83519756	182	21183											
PSME1	5720	genome.wustl.edu	37	chr14	24607555	24607555	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacttctccttccacaggTatttctctgagcgtggtgat	7	14	8	12	1	2	2	0	2	2	0	5	2	3	2	2	2	1	1	2	2	1	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr14:24607555T>C	ENST00000206451.6	+	9	634	c.529T>C	c.(529-531)Tat>Cat	p.Y177H	RP11-468E2.5_ENST00000558478.1_lincRNA|PSME1_ENST00000561435.1_Splice_Site_p.Y177H|PSME1_ENST00000559123.1_Splice_Site_p.Y18H|PSME1_ENST00000382708.3_Splice_Site_p.Y177H|EMC9_ENST00000558200.1_5'Flank	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	177					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		CTTCCACAGGTATTTCTCTGA	0.512																																																	0													286	295	292					14																	24607555		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"Proteasome (prosome, macropain) subunits"	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.528-1T>C	14.37:g.24607555T>C			A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28	p.Y177H	ENST00000206451.6	37	c.529	CCDS9612.1	14	.	.	.	.	.	.	.	.	.	.	t	21.2	4.105865	0.77096	.	.	ENSG00000092010	ENST00000206451;ENST00000382708	T;T	0.64438	-0.1;-0.1	5.3	5.3	0.74995	Proteasome activator pa28, REG beta subunit (2);	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.83699	0.0181	10	0.87932	D	0	-7.4956	13.2337	0.59957	0.0:0.0:0.0:1.0	.	177;177	A6NJG9;Q06323	.;PSME1_HUMAN	H	177	ENSP00000206451:Y177H;ENSP00000372155:Y177H	ENSP00000206451:Y177H	Y	+	1	0	PSME1	23677395	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.766000	0.62279	2.225000	0.72522	0.460000	0.39030	TAT	PSME1	-	pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28	ENSG00000092010		0.512	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME1	HGNC	protein_coding	OTTHUMT00000071910.2	-	0	45	0	T	NM_006263	Missense_Mutation	24607555	1	tier1	-	no_errors	ENST00000382708	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	C	C	24607555	T	C	24607555	5	2	80	1	0	0	0	0	0	0	1	0	12748	1652	57	4	563	4	PSME1	14	24607555	Splice_Site	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	777771	24607555	82741985	183	21184											
FOXG1	2290	genome.wustl.edu	37	chr14	29237633	29237633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccacctcacggccgccgCgctagccgcctcggtgccct	4	5	11	21	6	1	0	1	0	0	0	2	0	1	0	7	2	2	2	7	2	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr14:29237633C>T	ENST00000313071.4	+	1	1347	c.1148C>T	c.(1147-1149)gCg>gTg	p.A383V	FOXG1_ENST00000382535.3_Missense_Mutation_p.A383V	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	383	Interaction with KDM5B.				aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACGGCCGCCGCGCTAGCCGCC	0.692																																																	0													40	35	36					14																	29237633		2202	4297	6499	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1148C>T	14.37:g.29237633C>T	ENSP00000339004:p.Ala383Val		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A383V	ENST00000313071.4	37	c.1148	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567748	0.45798	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93488	-3.23;-3.23	4.21	4.21	0.49690	.	0.063200	0.64402	U	0.000007	D	0.85296	0.5664	N	0.19112	0.55	0.58432	D	0.999998	P	0.42375	0.778	B	0.26864	0.074	D	0.87401	0.2369	10	0.49607	T	0.09	.	16.9273	0.86180	0.0:1.0:0.0:0.0	.	383	P55316	FOXG1_HUMAN	V	383	ENSP00000371975:A383V;ENSP00000339004:A383V	ENSP00000339004:A383V	A	+	2	0	FOXG1	28307384	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.828000	0.62730	2.042000	0.60477	0.491000	0.48974	GCG	FOXG1	-	NULL	ENSG00000176165		0.692	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	33	0	C			29237633	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T	T	29237633	C	T	29237633	3	4	80	1	0	0	0	0	1	0	0	0	6031	768	27	1	1150	1	FOXG1	14	29237633	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	4630078	29237633	78111907	184	21185											
PRKD1	5587	genome.wustl.edu	37	chr14	30068314	30068314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atatttttaaaatgaaggtgCcgcaaagccacgagtatctg	14	11	9	7	2	1	1	0	1	1	0	1	2	1	1	2	1	2	2	2	1	6	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr14:30068314C>T	ENST00000331968.5	-	15	2314	c.2085G>A	c.(2083-2085)cgG>cgA	p.R695R	PRKD1_ENST00000415220.2_Silent_p.R703R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AATGAAGGTGCCGCAAAGCCA	0.368																																																	0													99	98	98					14																	30068314		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2085G>A	14.37:g.30068314C>T			A6NL64|B2RAF6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R695	ENST00000331968.5	37	c.2085	CCDS9637.1	14																																																																																			PRKD1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000184304		0.368	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2		0	40	0	C	NM_002742		30068314	-1			no_errors	ENST00000331968	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.218	T	T	30068314	C	T	30068314	2	4	80	1	0	0	0	0	0	0	0	1	12560	726	26	3		3	PRKD1	14	30068314	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	830681	30068314	77281226	185	21186											
RPS6KL1	83694	genome.wustl.edu	37	chr14	75388105	75388105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatccaccagatagtcaCgttttgtcatgtcaggcact	9	11	8	13	2	3	1	3	0	0	1	4	1	4	1	3	1	0	3	3	1	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr14:75388105C>A	ENST00000555647.1	-	3	427	c.140G>T	c.(139-141)cGt>cTt	p.R47L	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R47L|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R47L|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R47L			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	47						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CAGATAGTCACGTTTTGTCAT	0.592																																																	0													143	127	132					14																	75388105		2203	4300	6503	SO:0001583	missense	0			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.140G>T	14.37:g.75388105C>A	ENSP00000452027:p.Arg47Leu		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R47L	ENST00000555647.1	37	c.140	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424498	0.43020	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.29655	2.03;1.56;2.03;2.03	4.16	2.31	0.28768	MIT (1);	0.128968	0.51477	D	0.000091	T	0.19765	0.0475	N	0.24115	0.695	0.42549	D	0.9931	B;P;P	0.35192	0.075;0.489;0.462	B;B;B	0.38500	0.045;0.149;0.275	T	0.04976	-1.0914	10	0.19147	T	0.46	-0.3774	9.3187	0.37950	0.0:0.8163:0.0:0.1837	.	47;47;47	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	L	47	ENSP00000452027:R47L;ENSP00000346644:R47L;ENSP00000450567:R47L;ENSP00000351086:R47L	ENSP00000346644:R47L	R	-	2	0	RPS6KL1	74457858	0.851000	0.29673	0.648000	0.29521	0.569000	0.35902	1.939000	0.40213	0.357000	0.24183	0.561000	0.74099	CGT	RPS6KL1	-	smart_MIT	ENSG00000198208		0.592	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	-	0	32	0	C			75388105	-1	tier1	-	no_errors	ENST00000358328	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.987	A	A	75388105	C	A	75388105	3	1	80	1	0	0	0	0	1	0	0	0	13704	536	19	2	1525	2	RPS6KL1	14	75388105	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	45319791	75388105	31961435	186	21187											
PTPN21	11099	genome.wustl.edu	37	chr14	88945583	88945583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccgaggctcgcgcgcaCgtgcaggaggcgcccgggcc	4	2	19	16	8	0	0	0	0	0	0	1	2	0	1	3	5	1	3	3	5	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr14:88945583C>T	ENST00000556564.1	-	13	2476	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R731H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	731					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCGCGCGCACGTGCAGGAGG	0.716																																																	0													22	23	23					14																	88945583		2199	4293	6492	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2192G>A	14.37:g.88945583C>T	ENSP00000452414:p.Arg731His			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.R731H	ENST00000556564.1	37	c.2192	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	C	7.495	0.651406	0.14516	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.72725	-0.68;-0.68	3.91	0.34	0.15985	.	0.570987	0.17321	N	0.178507	T	0.50103	0.1596	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	10	0.20046	T	0.44	.	2.441	0.04494	0.2241:0.2559:0.4037:0.1164	.	731	Q16825	PTN21_HUMAN	H	731	ENSP00000330276:R731H;ENSP00000452414:R731H	ENSP00000330276:R731H	R	-	2	0	PTPN21	88015336	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.715000	0.04997	0.615000	0.30124	0.467000	0.42956	CGT	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.716	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0	52	0	C			88945583	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	59.46	15	22	SNP	0.000	T	T	88945583	C	T	88945583	3	4	80	1	0	0	0	0	1	0	0	0	12831	536	19	1	1360	1	PTPN21	14	88945583	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	13557478	88945583	18403957	187	21188											
LTK	4058	genome.wustl.edu	37	chr15	41805206	41805206	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggaggctggctccaaGatactaggcggggcgctgac	8	5	18	10	3	0	2	0	1	0	1	1	3	1	3	1	7	2	3	1	7	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:41805206G>T	ENST00000263800.6	-	2	252	c.156C>A	c.(154-156)atC>atA	p.I52I	LTK_ENST00000355166.5_Silent_p.I52I|LTK_ENST00000453182.2_Silent_p.I52I|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	52					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGGCTCCAAGATACTAGGCG	0.662										TSP Lung(18;0.14)																																							0													30	36	34					15																	41805206		2202	4297	6499	SO:0001819	synonymous_variant	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.156C>A	15.37:g.41805206G>T			A6NNJ8|B4DL89|E9PFX4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I52	ENST00000263800.6	37	c.156	CCDS10077.1	15																																																																																			LTK	-	NULL	ENSG00000062524		0.662	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2		0	75	0	G			41805206	-1			no_errors	ENST00000263800	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.000	T	T	41805206	G	T	41805206	2	4	80	1	0	0	0	0	0	0	0	1	9115	932	33	3		3	LTK	15	41805206	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09		41805206	60726186	188	21189											
MGA	23269	genome.wustl.edu	37	chr15	42042214	42042214	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtcacctttaaggaaGaaagtaaatttgaattgtca	15	13	7	6	0	2	2	2	1	0	1	3	3	3	3	2	1	0	1	2	1	6	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:42042214G>T	ENST00000570161.1	+	16	6409	c.6409G>T	c.(6409-6411)Gaa>Taa	p.E2137*	MGA_ENST00000545763.1_Nonsense_Mutation_p.E1928*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E2137*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E1928*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E2098*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTTTAAGGAAGAAAGTAAATT	0.403																																																	0													47	46	46					15																	42042214		1876	4122	5998	SO:0001587	stop_gained	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6409G>T	15.37:g.42042214G>T	ENSP00000457035:p.Glu2137*		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E2137*	ENST00000570161.1	37	c.6409	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556578	0.86231	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.11	4.11	0.48088	.	1.264840	0.05558	N	0.568619	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	5.9956	0.19491	0.1055:0.2142:0.6802:0.0	.	.	.	.	X	2137;2098;1928	.	ENSP00000219905:E2137X	E	+	1	0	MGA	39829506	0.996000	0.38824	0.984000	0.44739	0.786000	0.44442	2.400000	0.44504	2.149000	0.67028	0.467000	0.42956	GAA	MGA	-	NULL	ENSG00000174197		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0	30	0	G	NM_001164273.1		42042214	1			no_errors	ENST00000219905	ensembl	human	known	74_37	nonsense	8.00	23	2	SNP	0.872	T	T	42042214	G	T	42042214	4	4	80	1	0	0	0	0	0	1	0	0	9578	943	33	3	6471	3	MGA	15	42042214	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	237008	42042214	60489178	189	21190											
PLA2G4E	123745	genome.wustl.edu	37	chr15	42292154	42292154	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatcggaaaggcagtcGaggggctggctgatggggcc	8	6	18	9	2	0	2	0	2	0	0	2	4	0	3	2	7	0	3	2	7	1	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:42292154G>T	ENST00000399518.3	-	9	1383	c.897C>A	c.(895-897)ctC>ctA	p.L299L	PLA2G4E_ENST00000413860.2_Silent_p.L270L|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	292					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AAAGGCAGTCGAGGGGCTGGC	0.647																																																	0													22	25	24					15																	42292154		1935	4144	6079	SO:0001819	synonymous_variant	0				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.897C>A	15.37:g.42292154G>T			Q6ZSC0	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.L270	ENST00000399518.3	37	c.810	CCDS55962.1	15																																																																																			PLA2G4E	-	NULL	ENSG00000188089		0.647	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PLA2G4E	HGNC	protein_coding	OTTHUMT00000252738.2		0	28	0	G	NM_198442		42292154	-1			no_errors	ENST00000413860	ensembl	human	known	74_37	silent	9.09	20	2	SNP	0.086	T	T	42292154	G	T	42292154	2	4	80	1	0	0	0	0	0	0	0	1	12044	1045	37	2		2	PLA2G4E	15	42292154	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	249940	42292154	60239238	190	21191											
WDR72	256764	genome.wustl.edu	37	chr15	53908282	53908282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggacctcaccaccataGaatgaactggaagagtcaac	15	6	8	12	0	3	3	3	1	0	2	3	5	3	5	3	2	2	0	3	2	5	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:53908282G>T	ENST00000396328.1	-	15	2360	c.2121C>A	c.(2119-2121)ttC>ttA	p.F707L	WDR72_ENST00000559418.1_Missense_Mutation_p.F717L|WDR72_ENST00000360509.5_Missense_Mutation_p.F707L|WDR72_ENST00000557913.1_Missense_Mutation_p.F704L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	707										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACCACCATAGAATGAACTGG	0.443																																																	0													94	84	88					15																	53908282		2194	4293	6487	SO:0001583	missense	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2121C>A	15.37:g.53908282G>T	ENSP00000379619:p.Phe707Leu		Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F707L	ENST00000396328.1	37	c.2121	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	G	0.645	-0.811686	0.02798	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.33216	1.42;1.42	5.37	2.23	0.28157	.	0.214179	0.41712	D	0.000834	T	0.12092	0.0294	N	0.16656	0.425	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.31943	-0.9925	10	0.02654	T	1	.	3.7169	0.08441	0.2253:0.1218:0.5409:0.112	.	707	Q3MJ13	WDR72_HUMAN	L	707	ENSP00000379619:F707L;ENSP00000353699:F707L	ENSP00000353699:F707L	F	-	3	2	WDR72	51695574	1.000000	0.71417	0.841000	0.33234	0.596000	0.36781	1.648000	0.37271	0.655000	0.30866	0.313000	0.20887	TTC	WDR72	-	NULL	ENSG00000166415		0.443	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2		0	55	0	G	NM_182758		53908282	-1			no_errors	ENST00000360509	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.023	T	T	53908282	G	T	53908282	3	4	80	1	0	0	0	0	1	0	0	0	17371	933	33	3	1211	3	WDR72	15	53908282	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	11616128	53908282	48623110	191	21192											
DAPK2	23604	genome.wustl.edu	37	chr15	64275784	64275784	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatagacgtcgtgcagcgTgatgacattgtggtgcagca	9	10	13	9	3	1	3	1	2	0	1	2	3	1	3	0	1	4	3	0	1	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:64275784T>C	ENST00000457488.1	-	3	292	c.262A>G	c.(262-264)Acg>Gcg	p.T88A	DAPK2_ENST00000558069.1_Missense_Mutation_p.T88A|DAPK2_ENST00000261891.3_Missense_Mutation_p.T88A|DAPK2_ENST00000558482.1_5'UTR	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	88	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCGTGCAGCGTGATGACATTG	0.667																																																	0													75	72	73					15																	64275784		2203	4300	6503	SO:0001583	missense	0			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.262A>G	15.37:g.64275784T>C	ENSP00000408277:p.Thr88Ala		E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T88A	ENST00000457488.1	37	c.262	CCDS10188.1	15	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533333	0.45073	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.39056	1.1;1.1	5.36	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.161665	0.39615	N	0.001311	T	0.23289	0.0563	N	0.11313	0.125	0.47123	D	0.999328	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.0	T	0.03641	-1.1017	10	0.30854	T	0.27	.	10.4531	0.44535	0.0:0.0765:0.0:0.9235	.	88;88	E9JGM7;Q9UIK4	.;DAPK2_HUMAN	A	88	ENSP00000261891:T88A;ENSP00000408277:T88A	ENSP00000261891:T88A	T	-	1	0	DAPK2	62062837	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.876000	0.48498	0.873000	0.35799	0.459000	0.35465	ACG	DAPK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000035664		0.667	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	-	0	68	0	T	NM_014326		64275784	-1	tier1	-	no_errors	ENST00000261891	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	64275784	T	C	64275784	3	2	80	1	0	0	0	0	1	0	0	0	4245	1696	59	4	890	4	DAPK2	15	64275784	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	10367502	64275784	38255608	192	21193											
SNUPN	10073	genome.wustl.edu	37	chr15	75890977	75890977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccaagggagtgcttcCggggctgtagtgggtctgtt	5	10	16	10	1	1	0	0	0	1	0	2	1	2	1	3	4	1	4	3	4	2	3	rs138384328		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:75890977C>T	ENST00000564644.1	-	10	1383	c.805G>A	c.(805-807)Gga>Aga	p.G269R	SNUPN_ENST00000371091.5_Missense_Mutation_p.G311R|SNUPN_ENST00000308588.5_Missense_Mutation_p.G269R|SNUPN_ENST00000564675.1_Missense_Mutation_p.G269R|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Missense_Mutation_p.G269R			O95149	SPN1_HUMAN	snurportin 1	269	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGAGTGCTTCCGGGGCTGTAG	0.552													C|||	1	0.000199681	0	0	5008	,	,		17969	0		0	False		,,,				2504	0.001																0								C	ARG/GLY,ARG/GLY,ARG/GLY	1,4393	2.1+/-5.4	0,1,2196	106	119	115		805,805,805	5.9	1	15	dbSNP_134	115	2,8582	2.2+/-6.3	0,2,4290	yes	missense,missense,missense	SNUPN	NM_001042581.1,NM_001042588.1,NM_005701.3	125,125,125	0,3,6486	TT,TC,CC		0.0233,0.0228,0.0231	probably-damaging,probably-damaging,probably-damaging	269/361,269/361,269/361	75890977	3,12975	2197	4292	6489	SO:0001583	missense	0			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.805G>A	15.37:g.75890977C>T	ENSP00000454852:p.Gly269Arg		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.G311R	ENST00000564644.1	37	c.931	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.309504	0.95629	2.28E-4	2.33E-4	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.65364	-0.15;-0.15	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82018	-0.0665	10	0.87932	D	0	-20.7093	19.3122	0.94192	0.0:1.0:0.0:0.0	.	311;269	C9K0X5;O95149	.;SPN1_HUMAN	R	269;311	ENSP00000309831:G269R;ENSP00000360132:G311R	ENSP00000309831:G269R	G	-	1	0	SNUPN	73678032	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.296000	0.78790	2.811000	0.96726	0.555000	0.69702	GGA	SNUPN	-	pirsf_Snurportin-1	ENSG00000169371		0.552	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	-	0	51	0	C	NM_005701		75890977	-1	tier1	rs138384328	no_errors	ENST00000371091	ensembl	human	known	74_37	missense	47.62	22	20	SNP	1.000	T	T	75890977	C	T	75890977	3	4	80	1	0	0	0	0	1	0	0	0	14922	661	23	1	281	1	SNUPN	15	75890977	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	11615193	75890977	26640415	193	21194											
KIAA1199	57214	genome.wustl.edu	37	chr15	81201538	81201538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattcacttccacctggccgGtgatgtagacgaaaggggag	10	8	14	9	2	1	2	1	1	0	1	2	5	2	3	3	4	0	1	3	4	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:81201538G>A	ENST00000394685.3	+	14	2107	c.1688G>A	c.(1687-1689)gGt>gAt	p.G563D	KIAA1199_ENST00000220244.3_Missense_Mutation_p.G563D|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G563D|RP11-351M8.1_ENST00000560560.1_Intron			Q8WUJ3	CEMIP_HUMAN		563	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.			HFHLAGD -> TRPPTRP (in Ref. 6; CAB94391). {ECO:0000305}.	hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CACCTGGCCGGTGATGTAGAC	0.542																																																	0													164	118	133					15																	81201538		2203	4300	6503	SO:0001583	missense	0																														ENST00000394685.3:c.1688G>A	15.37:g.81201538G>A	ENSP00000378177:p.Gly563Asp		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.G563D	ENST00000394685.3	37	c.1688	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161538	0.57368	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	D;D;D	0.94092	-3.35;-3.35;-3.35	4.57	4.57	0.56435	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97782	1.0233	10	0.56958	D	0.05	-21.276	17.5272	0.87804	0.0:0.0:1.0:0.0	.	563	Q8WUJ3	K1199_HUMAN	D	563	ENSP00000220244:G563D;ENSP00000378177:G563D;ENSP00000348583:G563D	ENSP00000220244:G563D	G	+	2	0	KIAA1199	78988593	1.000000	0.71417	0.065000	0.19835	0.040000	0.13550	7.275000	0.78548	2.368000	0.80403	0.467000	0.42956	GGT	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.542	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	-	0	54	0	G			81201538	1	tier1	-	no_errors	ENST00000220244	ensembl	human	known	74_37	missense	13.70	63	10	SNP	0.998	A	A	81201538	G	A	81201538	3	1	80	1	0	0	0	0	1	0	0	0	8240	1261	44	3	1734	3	KIAA1199	15	81201538	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	5310561	81201538	21329854	194	21195											
SLC28A1	9154	genome.wustl.edu	37	chr15	85431044	85431044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctctctcacacctgtggCcaagggtctggagaacatgg	9	9	11	12	0	3	1	1	0	3	1	5	2	3	1	2	4	1	0	2	4	2	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:85431044C>T	ENST00000286749.3	+	2	143	c.53C>T	c.(52-54)gCc>gTc	p.A18V	SLC28A1_ENST00000537703.1_5'UTR|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A18V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A18V|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A18V|SLC28A1_ENST00000338602.2_Missense_Mutation_p.A18V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A18V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	18					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ACACCTGTGGCCAAGGGTCTG	0.572																																																	0													174	153	160					15																	85431044		2203	4299	6502	SO:0001583	missense	0			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.53C>T	15.37:g.85431044C>T	ENSP00000286749:p.Ala18Val		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.A18V	ENST00000286749.3	37	c.53	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132330	0.37630	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T;T;T	0.13901	2.55;4.47;4.2;4.65;4.66;4.66	4.21	3.21	0.36854	.	0.425559	0.19195	N	0.120325	T	0.21022	0.0506	M	0.63428	1.95	0.09310	N	1	B;P;P;B;D	0.61697	0.259;0.518;0.788;0.44;0.99	B;B;B;B;P	0.51453	0.118;0.234;0.256;0.118;0.67	T	0.03784	-1.1004	10	0.54805	T	0.06	.	8.7097	0.34376	0.2264:0.7736:0.0:0.0	.	18;18;18;18;18	B7Z533;F5H560;B7Z3L6;O00337;O00337-2	.;.;.;S28A1_HUMAN;.	V	18	ENSP00000341629:A18V;ENSP00000440546:A18V;ENSP00000443752:A18V;ENSP00000444700:A18V;ENSP00000286749:A18V;ENSP00000378074:A18V	ENSP00000286749:A18V	A	+	2	0	SLC28A1	83232048	0.003000	0.15002	0.009000	0.14445	0.010000	0.07245	0.924000	0.28777	2.325000	0.78763	0.563000	0.77884	GCC	SLC28A1	-	NULL	ENSG00000156222		0.572	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2		0	82	0	C			85431044	1			no_errors	ENST00000286749	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.002	T	T	85431044	C	T	85431044	3	4	80	1	0	0	0	0	1	0	0	0	14576	739	26	3	55	3	SLC28A1	15	85431044	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	4229506	85431044	17100348	195	21196											
TM2D3	80213	genome.wustl.edu	37	chr15	102182790	102182791	+	Frame_Shift_Ins	INS	-	-	C																															agctgaagagcttgccgaggINSccttcccgccactggcccag																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr15:102182790_102182791insC	ENST00000333202.3	-	6	640_641	c.635_636insG	c.(634-636)ggcfs	p.G212fs	TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000561373.1_Frame_Shift_Ins_p.G147fs|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000347970.3_Frame_Shift_Ins_p.G186fs	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTTGCCGAGGCCTTCCCGCCA	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.636dupG	15.37:g.102182792_102182792dupC	ENSP00000330433:p.Gly212fs		B2RDK9|Q9H046|Q9H651	Frame_Shift_Ins	INS	pfam_TM2	p.L213fs	ENST00000333202.3	37	c.636_635	CCDS10393.1	15																																																																																			TM2D3	-	pfam_TM2	ENSG00000184277		0.574	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	HGNC	protein_coding	OTTHUMT00000313623.1		0	10	0	-	NM_078474		102182791	-1	tier1		no_errors	ENST00000333202	ensembl	human	known	74_37	frame_shift_ins	33.33	4	2	INS	0.994:1.000	C	C	102182791	-	C	102182790	7	5	80	1	0	1	1	0	0	0	0	0	16012	1190	42	0	111	0	TM2D3	15	102182790	Frame_Shift_Ins	INS	-	TCGA-L5-A8NF-01A-11D-A37C-09	16751746	102182790	348602	196	21197											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1818620	1818620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggagggctacatcgacttCcgcattggtgagcggggccc	6	7	17	11	3	0	1	0	1	0	0	2	3	1	2	2	6	2	2	2	6	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:1818620C>T	ENST00000250894.4	+	31	4039	c.3882C>T	c.(3880-3882)ttC>ttT	p.F1294F	MAPK8IP3_ENST00000356010.5_Silent_p.F1288F	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1294					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						ACATCGACTTCCGCATTGGTG	0.711																																																	0													24	39	34					16																	1818620		2048	4181	6229	SO:0001819	synonymous_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3882C>T	16.37:g.1818620C>T			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.F1294	ENST00000250894.4	37	c.3882	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL	ENSG00000138834		0.711	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0	36	0	C	NM_001040439		1818620	1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	silent	21.57	40	11	SNP	1.000	T	T	1818620	C	T	1818620	2	4	80	1	0	0	0	0	0	0	0	1	9324	854	30	3		3	MAPK8IP3	16	1818620	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		1818620	88536133	197	21198											
PKD1	5310	genome.wustl.edu	37	chr16	2144123	2144123	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcgctgcctggggctGttcccagttcaggcctgggc	3	9	14	15	1	1	0	1	0	0	0	3	0	2	0	4	4	2	4	4	4	0	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:2144123G>A	ENST00000262304.4	-	35	10796	c.10588C>T	c.(10588-10590)Cag>Tag	p.Q3530*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q3529*|RP11-304L19.1_ENST00000570072.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3530					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCTGGGGCTGTTCCCAGTTC	0.672																																																	0			GRCh37	CM090561	PKD1	M							17	17	17					16																	2144123		2186	4286	6472	SO:0001587	stop_gained	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10588C>T	16.37:g.2144123G>A	ENSP00000262304:p.Gln3530*		Q15140|Q15141	Nonsense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.Q3530*	ENST00000262304.4	37	c.10588	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	52	19.082151	0.99914	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	.	.	.	3.87	2.9	0.33743	.	0.893904	0.09591	N	0.781482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	2.5013	0.04634	0.1501:0.1746:0.5155:0.1598	.	.	.	.	X	3530;3529;2864	.	ENSP00000262304:Q3530X	Q	-	1	0	PKD1	2084124	0.007000	0.16637	0.113000	0.21522	0.373000	0.29922	1.319000	0.33655	0.843000	0.35070	0.505000	0.49811	CAG	PKD1	-	NULL	ENSG00000008710		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	11	0	G			2144123	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	nonsense	36.84	12	7	SNP	0.000	A	A	2144123	G	A	2144123	4	1	80	1	0	0	0	0	0	1	0	0	12002	1386	48	3	2371	3	PKD1	16	2144123	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	325503	2144123	88210630	198	21199											
TXNDC11	51061	genome.wustl.edu	37	chr16	11827869	11827873	+	Frame_Shift_Del	DEL	AAAAG	AAAAG	-																															cagatatattacaggaaaatAaaagaagtgtttctgttttc																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	AAAAG	AAAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:11827869_11827873delAAAAG	ENST00000356957.3	-	3	641_645	c.534_538delCTTTT	c.(532-540)ttcttttatfs	p.FFY178fs	TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.FFY178fs			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	178	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAGGAAAATAAAAGAAGTGTTTCT	0.341																																																	0																																										SO:0001589	frameshift_variant	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.534_538delCTTTT	16.37:g.11827869_11827873delAAAAG	ENSP00000349439:p.Phe178fs		O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Frame_Shift_Del	DEL	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.F178fs	ENST00000356957.3	37	c.538_534		16																																																																																			TXNDC11	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000153066		0.341	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1		0	53	0	AAAAG	NM_015914		11827873	-1			no_errors	ENST00000356957	ensembl	human	known	74_37	frame_shift_del	8.96	61	6	DEL	1.000:1.000:1.000:1.000:1.000	0	-	11827873	AAAAG	-	11827869	7	5	80	1	0	1	0	1	0	0	0	0	16841	362	13	0	2378	0	TXNDC11	16	11827869	Frame_Shift_Del	DEL	AAAAG	TCGA-L5-A8NF-01A-11D-A37C-09	9683746	11827869	78526884	199	21200											
PLK1	5347	genome.wustl.edu	37	chr16	23691416	23691416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccacagtctctcctggaGctgcacaagaggaggaaagc	12	5	11	13	0	1	1	0	0	1	1	3	4	2	4	2	3	3	2	2	3	2	0	rs35984094	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:23691416G>T	ENST00000300093.4	+	2	531	c.420G>T	c.(418-420)gaG>gaT	p.E140D	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	140	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CTCTCCTGGAGCTGCACAAGA	0.587																																					Colon(12;240 564 27038 33155)												0													74	58	63					16																	23691416		2197	4300	6497	SO:0001583	missense	0				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.420G>T	16.37:g.23691416G>T	ENSP00000300093:p.Glu140Asp		Q15153|Q99746	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.E140D	ENST00000300093.4	37	c.420	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415687	0.83449	.	.	ENSG00000166851	ENST00000300093;ENST00000425844;ENST00000330792	T	0.21191	2.02	5.51	2.51	0.30379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	N	0.04148	-0.265	0.80722	D	1	D	0.59357	0.985	D	0.72075	0.976	T	0.10847	-1.0612	10	0.66056	D	0.02	-28.5165	8.9234	0.35625	0.2433:0.0:0.7567:0.0	.	140	P53350	PLK1_HUMAN	D	140;43;140	ENSP00000300093:E140D	ENSP00000300093:E140D	E	+	3	2	PLK1	23598917	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.598000	0.54038	0.302000	0.22762	0.555000	0.69702	GAG	PLK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000166851		0.587	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK1	HGNC	protein_coding	OTTHUMT00000214057.2	-	0	52	0	G	NM_005030		23691416	1	tier1	-	no_errors	ENST00000300093	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	23691416	G	T	23691416	3	4	80	1	0	0	0	0	1	0	0	0	12133	962	34	3	426	3	PLK1	16	23691416	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	11863547	23691416	66663337	200	21201											
ITGAX	3687	genome.wustl.edu	37	chr16	31390952	31390952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggaaagccatgtggcCatgcacagataccaggcagg	14	4	14	9	0	0	2	0	0	0	2	0	4	0	3	3	4	3	2	3	4	3	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:31390952C>A	ENST00000268296.4	+	24	2974	c.2853C>A	c.(2851-2853)gcC>gcA	p.A951A	ITGAX_ENST00000562522.1_Silent_p.A951A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	951					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCATGTGGCCATGCACAGAT	0.572																																																	0													40	31	34					16																	31390952		2193	4293	6486	SO:0001819	synonymous_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2853C>A	16.37:g.31390952C>A			Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A951	ENST00000268296.4	37	c.2853	CCDS10711.1	16																																																																																			ITGAX	-	pfam_Integrin_alpha-2	ENSG00000140678		0.572	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	-	0	47	0	C	NM_000887		31390952	1	tier1	-	no_errors	ENST00000268296	ensembl	human	known	74_37	silent	21.21	52	14	SNP	0.000	A	A	31390952	C	A	31390952	2	1	80	1	0	0	0	0	0	0	0	1	7916	581	21	3		3	ITGAX	16	31390952	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	7699536	31390952	58963801	201	21202											
MYLK3	91807	genome.wustl.edu	37	chr16	46771735	46771735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcgtgccttcctctaaggGctcagggtcaggcctgctgg	4	10	13	14	1	3	0	2	0	1	0	5	0	4	0	4	4	2	2	4	4	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:46771735G>A	ENST00000394809.4	-	3	1004	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	297					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCTCTAAGGGCTCAGGGTCA	0.667																																																	0													72	71	72					16																	46771735		2203	4300	6503	SO:0001583	missense	0			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"MLC kinase"	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.889C>T	16.37:g.46771735G>A	ENSP00000378288:p.Pro297Ser		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P297S	ENST00000394809.4	37	c.889	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	G	7.782	0.709820	0.15239	.	.	ENSG00000140795	ENST00000394809	T	0.66995	-0.24	4.75	-3.89	0.04193	.	0.890012	0.09176	N	0.838139	T	0.40094	0.1103	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.31558	-0.9939	10	0.08381	T	0.77	.	0.3905	0.00409	0.3495:0.1264:0.223:0.301	.	297	Q32MK0	MYLK3_HUMAN	S	297	ENSP00000378288:P297S	ENSP00000378288:P297S	P	-	1	0	MYLK3	45329236	0.080000	0.21391	0.000000	0.03702	0.006000	0.05464	0.406000	0.21032	-0.527000	0.06374	0.655000	0.94253	CCC	MYLK3	-	NULL	ENSG00000140795		0.667	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	-	0	39	0	G	NM_182493		46771735	-1	tier1	-	no_errors	ENST00000394809	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.000	A	A	46771735	G	A	46771735	3	1	80	1	0	0	0	0	1	0	0	0	10096	1203	42	3	1614	3	MYLK3	16	46771735	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	15380783	46771735	43583018	202	21203											
ANKRD11	29123	genome.wustl.edu	37	chr16	89354973	89354973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcgtcgtgcaaaggcGtgtcgtcatctaggcccttg	6	10	14	11	4	2	0	1	0	1	0	4	0	2	0	1	3	2	2	1	3	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:89354973G>A	ENST00000301030.4	-	7	1167	c.707C>T	c.(706-708)aCg>aTg	p.T236M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T236M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	236					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T236M(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTGCAAAGGCGTGTCGTCATC	0.617																																																	1	Substitution - Missense(1)	central_nervous_system(1)											199	122	148					16																	89354973		2198	4300	6498	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"Ankyrin repeat domain containing"	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.707C>T	16.37:g.89354973G>A	ENSP00000301030:p.Thr236Met		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T236M	ENST00000301030.4	37	c.707	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.567951	0.96540	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	D;D	0.85556	-2.0;-2.0	5.52	5.52	0.82312	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94324	0.8176	M	0.91818	3.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.997	D	0.95121	0.8246	10	0.87932	D	0	.	19.4262	0.94742	0.0:0.0:1.0:0.0	.	236;250;236	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	M	236;236;250	ENSP00000301030:T236M;ENSP00000367581:T236M	ENSP00000301030:T236M	T	-	2	0	ANKRD11	87882474	1.000000	0.71417	0.947000	0.38551	0.992000	0.81027	9.630000	0.98420	2.605000	0.88082	0.563000	0.77884	ACG	ANKRD11	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167522		0.617	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3		0	39	0	G	NM_013275		89354973	-1			no_errors	ENST00000301030	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	89354973	G	A	89354973	3	1	80	1	0	0	0	0	1	0	0	0	639	1145	40	1	7312	1	ANKRD11	16	89354973	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	42583238	89354973	999780	203	21204											
C16orf7	9605	genome.wustl.edu	37	chr16	89778882	89778882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgtctcctcccgggCtttggcaatcactaggttct	4	13	11	13	1	3	0	1	0	2	0	5	0	4	0	2	4	1	5	2	4	2	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr16:89778882C>T	ENST00000389386.3	-	6	716	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	VPS9D1_ENST00000565452.1_5'Flank|VPS9D1_ENST00000561976.1_Missense_Mutation_p.A128T|VPS9D1-AS1_ENST00000562866.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1	198					ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TCCTCCCGGGCTTTGGCAATC	0.657																																																	0													60	66	64					16																	89778882		1915	4120	6035	SO:0001583	missense	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 7"	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.592G>A	16.37:g.89778882C>T	ENSP00000374037:p.Ala198Thr			Missense_Mutation	SNP	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	p.A198T	ENST00000389386.3	37	c.592	CCDS42220.1	16	.	.	.	.	.	.	.	.	.	.	c	34	5.383023	0.95967	.	.	ENSG00000075399	ENST00000389386;ENST00000261625	T	0.13089	2.62	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	M	0.71581	2.175	0.53005	D	0.999966	D	0.67145	0.996	D	0.63381	0.914	T	0.05886	-1.0858	10	0.72032	D	0.01	-20.8406	13.7291	0.62776	0.0:1.0:0.0:0.0	.	198	Q9Y2B5	CP007_HUMAN	T	198;229	ENSP00000374037:A198T	ENSP00000261625:A229T	A	-	1	0	C16orf7	88306383	1.000000	0.71417	0.976000	0.42696	0.986000	0.74619	4.865000	0.62998	2.298000	0.77334	0.479000	0.44913	GCC	VPS9D1	-	NULL	ENSG00000075399		0.657	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0	78	0	C	NM_004913		89778882	-1	tier1	-	no_errors	ENST00000389386	ensembl	human	known	74_37	missense	46.90	60	53	SNP	1.000	T	T	89778882	C	T	89778882	3	4	80	1	0	0	0	0	1	0	0	0	1833	797	28	3	1343	3	C16orf7	16	89778882	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	423909	89778882	575871	204	21205											
ALOX12B	242	genome.wustl.edu	37	chr17	7984078	7984078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgatgagaattgggaatCccggaatatagccattccac	13	10	10	8	1	0	2	0	2	0	1	2	5	2	4	3	2	1	1	3	2	5	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:7984078C>A	ENST00000319144.4	-	5	808	c.548G>T	c.(547-549)gGa>gTa	p.G183V	ALOX12B_ENST00000577351.1_5'Flank|AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	183	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AATTGGGAATCCCGGAATATA	0.602										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													106	113	110					17																	7984078		2203	4300	6503	SO:0001583	missense	0			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"Arachidonate lipoxygenases"	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.548G>T	17.37:g.7984078C>A	ENSP00000315167:p.Gly183Val	645		Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.G183V	ENST00000319144.4	37	c.548	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320429	0.81469	.	.	ENSG00000179477	ENST00000319144	D	0.88975	-2.45	4.34	4.34	0.51931	Lipoxygenase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94483	0.8224	M	0.87900	2.915	0.80722	D	1	D	0.63046	0.992	D	0.69307	0.963	D	0.95207	0.8322	10	0.87932	D	0	-10.2361	14.2763	0.66181	0.0:1.0:0.0:0.0	.	183	O75342	LX12B_HUMAN	V	183	ENSP00000315167:G183V	ENSP00000315167:G183V	G	-	2	0	ALOX12B	7924803	0.994000	0.37717	0.953000	0.39169	0.879000	0.50718	5.320000	0.65841	2.421000	0.82119	0.555000	0.69702	GGA	ALOX12B	-	superfamily_LipOase_C	ENSG00000179477		0.602	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	-	0	56	0	C			7984078	-1	tier1	-	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	7984078	C	A	7984078	3	1	80	1	0	0	0	0	1	0	0	0	537	855	30	3	1601	3	ALOX12B	17	7984078	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		7984078	73211132	205	21206											
PER1	5187	genome.wustl.edu	37	chr17	8050700	8050700	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggggctgtggacgggCtgcagcagggagagggcagg	6	4	24	7	1	0	1	0	0	0	1	0	3	0	2	0	8	2	6	0	8	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:8050700C>A	ENST00000317276.4	-	13	1735		c.e13-1		PER1_ENST00000354903.5_Splice_Site|PER1_ENST00000581082.1_Splice_Site|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1						circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTGGACGGGCTGCAGCAGGG	0.662			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													20	21	21					17																	8050700		2198	4293	6491	SO:0001630	splice_region_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1498-1G>T	17.37:g.8050700C>A			B2RPA8|B4DI49|D3DTR3	Splice_Site	SNP	-	e12-1	ENST00000317276.4	37	c.1498-1	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	8.005	0.756146	0.15846	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8302	0.70142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PER1	7991425	1.000000	0.71417	0.946000	0.38457	0.114000	0.19823	6.033000	0.70925	2.446000	0.82766	0.551000	0.68910	.	PER1	-	-	ENSG00000179094		0.662	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2		0	52	0	C		Intron	8050700	-1			no_errors	ENST00000317276	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	0.998	A	A	8050700	C	A	8050700	5	1	80	1	0	0	0	0	0	0	1	0	11768	811	28	3	2419	3	PER1	17	8050700	Splice_Site	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	66622	8050700	73144510	206	21207											
MYH10	4628	genome.wustl.edu	37	chr17	8381682	8381682	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatactggtccgcgtgtcGacgctcatcctcaacctgca	7	12	8	14	4	2	0	2	0	0	0	5	1	4	0	3	1	3	2	3	1	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:8381682G>A	ENST00000269243.4	-	39	5725	c.5587C>T	c.(5587-5589)Cga>Tga	p.R1863*	MYH10_ENST00000379980.4_Nonsense_Mutation_p.R1879*|MYH10_ENST00000360416.3_Nonsense_Mutation_p.R1894*|MYH10_ENST00000396239.1_Nonsense_Mutation_p.R1884*|NDEL1_ENST00000299734.7_Intron	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1863					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCGCGTGTCGACGCTCATCC	0.542																																																	0													156	126	136					17																	8381682		2203	4300	6503	SO:0001587	stop_gained	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5587C>T	17.37:g.8381682G>A	ENSP00000269243:p.Arg1863*		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1884*	ENST00000269243.4	37	c.5650	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	G	42	9.650481	0.99229	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	.	.	.	4.78	4.78	0.61160	.	0.062748	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	13.357	0.60633	0.0:0.0:0.8425:0.1575	.	.	.	.	X	1863;1894;1884;1879	.	ENSP00000269243:R1863X	R	-	1	2	MYH10	8322407	1.000000	0.71417	0.439000	0.26833	0.086000	0.17979	5.302000	0.65733	2.657000	0.90304	0.655000	0.94253	CGA	MYH10	-	pfam_Myosin_tail,superfamily_HR1_rho-bd	ENSG00000133026		0.542	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2		0	44	0	G			8381682	-1			no_errors	ENST00000396239	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.998	A	A	8381682	G	A	8381682	4	1	80	1	0	0	0	0	0	1	0	0	10068	1066	37	1	355	1	MYH10	17	8381682	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	330982	8381682	72813528	207	21208											
CCDC42	146849	genome.wustl.edu	37	chr17	8638852	8638852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcttctcctggccttcCtgcgcagactgcatgaggtc	6	12	9	14	1	3	2	1	1	2	1	6	2	4	2	3	2	2	2	3	2	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:8638852C>T	ENST00000293845.3	-	5	796	c.570G>A	c.(568-570)caG>caA	p.Q190Q	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	190										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CCTGGCCTTCCTGCGCAGACT	0.582																																																	0													67	60	62					17																	8638852		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.570G>A	17.37:g.8638852C>T			Q8N6Q0	Silent	SNP	NULL	p.Q190	ENST00000293845.3	37	c.570	CCDS11145.1	17																																																																																			CCDC42	-	NULL	ENSG00000161973		0.582	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	-	0	15	0	C	NM_144681		8638852	-1	tier1	-	no_errors	ENST00000293845	ensembl	human	known	74_37	silent	21.05	15	4	SNP	1.000	T	T	8638852	C	T	8638852	2	4	80	1	0	0	0	0	0	0	0	1	2821	680	24	3		3	CCDC42	17	8638852	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	257170	8638852	72556358	208	21209											
MYH13	8735	genome.wustl.edu	37	chr17	10265724	10265724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaggttgtacagaacagCaggttcatgcaggtgagtca	11	11	13	6	0	2	3	2	2	0	1	2	3	2	3	0	3	4	5	0	3	2	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:10265724C>A	ENST00000418404.3	-	3	464	c.301G>T	c.(301-303)Gct>Tct	p.A101S	MYH13_ENST00000252172.4_Missense_Mutation_p.A101S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	101	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TACAGAACAGCAGGTTCATGC	0.463																																																	0													290	265	273					17																	10265724		2203	4300	6503	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.301G>T	17.37:g.10265724C>A	ENSP00000404570:p.Ala101Ser		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A101S	ENST00000418404.3	37	c.301	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.136371	0.01742	.	.	ENSG00000006788	ENST00000252172	D	0.86769	-2.17	4.4	4.4	0.53042	Myosin head, motor domain (2);	.	.	.	.	T	0.68128	0.2967	N	0.02973	-0.45	0.34234	D	0.676901	B	0.02656	0.0	B	0.17433	0.018	T	0.64474	-0.6399	9	0.02654	T	1	.	12.6056	0.56521	0.1658:0.8342:0.0:0.0	.	101	Q9UKX3	MYH13_HUMAN	S	101	ENSP00000252172:A101S	ENSP00000252172:A101S	A	-	1	0	MYH13	10206449	0.156000	0.22821	0.722000	0.30670	0.149000	0.21700	0.645000	0.24782	2.445000	0.82738	0.467000	0.42956	GCT	MYH13	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000006788		0.463	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	110	0	C	NM_003802		10265724	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	14.53	99	17	SNP	0.842	A	A	10265724	C	A	10265724	3	1	80	1	0	0	0	0	1	0	0	0	10070	710	25	3	5667	3	MYH13	17	10265724	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1626872	10265724	70929486	209	21210											
MAP2K4	6416	genome.wustl.edu	37	chr17	12044509	12044509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaacgtgccgttgaggtcGcatgctatgtttgtaaaatc	11	12	11	7	3	0	2	0	1	0	1	2	2	0	2	1	1	3	5	1	1	5	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:12044509G>T	ENST00000353533.5	+	11	1195	c.1132G>T	c.(1132-1134)Gca>Tca	p.A378S	MAP2K4_ENST00000415385.3_Missense_Mutation_p.A389S	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	378	DVD domain.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(2)|p.A378T(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CGTTGAGGTCGCATGCTATGT	0.398			"D, Mis, N"		"pancreatic, breast, colorectal"																																			Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	13	Whole gene deletion(10)|Unknown(2)|Substitution - Missense(1)	breast(4)|ovary(4)|pancreas(2)|biliary_tract(1)|endometrium(1)|lung(1)											148	129	135					17																	12044509		2203	4300	6503	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1132G>T	17.37:g.12044509G>T	ENSP00000262445:p.Ala378Ser		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A389S	ENST00000353533.5	37	c.1165	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785524	0.70337	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.20200	2.09;2.09	5.53	5.53	0.82687	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	L	0.43701	1.375	0.80722	D	1	B;B;B	0.32302	0.029;0.299;0.363	B;P;B	0.47346	0.02;0.544;0.342	T	0.02691	-1.1123	10	0.40728	T	0.16	.	18.3995	0.90511	0.0:0.0:1.0:0.0	.	250;389;378	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	S	378;389;355;250	ENSP00000262445:A378S;ENSP00000410402:A389S	ENSP00000262445:A378S	A	+	1	0	MAP2K4	11985234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.652000	0.98499	2.879000	0.98667	0.650000	0.86243	GCA	MAP2K4	-	superfamily_Kinase-like_dom	ENSG00000065559		0.398	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1		0	25	0	G			12044509	1			no_errors	ENST00000415385	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	12044509	G	T	12044509	3	4	80	1	0	0	0	0	1	0	0	0	9277	1087	38	2	1174	2	MAP2K4	17	12044509	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	1778785	12044509	69150701	210	21211											
ZSWIM7	125150	genome.wustl.edu	37	chr17	15890599	15890599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtaaacacgccttccaCtgggtgatgagattaaggtg	10	10	12	9	1	0	2	0	2	0	1	1	3	1	2	3	3	1	1	3	3	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:15890599C>T	ENST00000399277.1	-	3	279	c.182G>A	c.(181-183)aGt>aAt	p.S61N	ZSWIM7_ENST00000472495.1_Missense_Mutation_p.S61N|ZSWIM7_ENST00000486655.1_Missense_Mutation_p.S46N|ZSWIM7_ENST00000399280.2_5'UTR	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	61					double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	zinc ion binding (GO:0008270)			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		ACGCCTTCCACTGGGTGATGA	0.468																																																	0													83	82	82					17																	15890599		1887	4122	6009	SO:0001583	missense	0			AK093384	CCDS42266.1	17p11.2	2014-02-12			ENSG00000214941	ENSG00000214941		"Zinc fingers, SWIM-type"	26993	protein-coding gene	gene with protein product	"SWIM domain containing Srs2 interacting protein 1"	614535				16710300	Standard	NM_001042698		Approved	SWS1	uc002gpf.3	Q19AV6	OTTHUMG00000059308	ENST00000399277.1:c.182G>A	17.37:g.15890599C>T	ENSP00000382218:p.Ser61Asn			Missense_Mutation	SNP	pfam_Znf_SWIM,pfscan_Znf_SWIM	p.S61N	ENST00000399277.1	37	c.182	CCDS42266.1	17	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627357	0.46944	.	.	ENSG00000214941	ENST00000399277;ENST00000472495	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	U	0.000000	T	0.76292	0.3967	M	0.74647	2.275	0.43000	D	0.994518	D	0.71674	0.998	P	0.59487	0.858	T	0.75909	-0.3151	9	0.44086	T	0.13	-9.0864	17.0732	0.86580	0.0:1.0:0.0:0.0	.	61	Q19AV6	ZSWM7_HUMAN	N	61	.	ENSP00000382218:S61N	S	-	2	0	ZSWIM7	15831324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.294000	0.65687	2.826000	0.97356	0.655000	0.94253	AGT	ZSWIM7	-	NULL	ENSG00000214941		0.468	ZSWIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM7	HGNC	protein_coding	OTTHUMT00000131736.1	-	0	49	0	C	NM_001042697		15890599	-1	tier1	-	no_errors	ENST00000399277	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	15890599	C	T	15890599	3	4	80	1	0	0	0	0	1	0	0	0	18293	565	20	3	252	3	ZSWIM7	17	15890599	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	3846090	15890599	65304611	211	21212											
C17orf75	64149	genome.wustl.edu	37	chr17	30665254	30665254	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctttttcagaccctcctAaaaaacagaccacatattct	13	12	3	13	0	2	2	1	0	1	2	4	2	4	2	4	0	1	0	4	0	4	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:30665254A>T	ENST00000577809.1	-	4	513	c.464T>A	c.(463-465)tTa>tAa	p.L155*	C17orf75_ENST00000225805.4_Nonsense_Mutation_p.L155*|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	155										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGACCCTCCTAAAAAACAGAC	0.388																																																	0													158	153	155					17																	30665254		1840	4099	5939	SO:0001587	stop_gained	0			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.464T>A	17.37:g.30665254A>T	ENSP00000464275:p.Leu155*		Q7Z2H4	Nonsense_Mutation	SNP	NULL	p.L155*	ENST00000577809.1	37	c.464	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	A	36	5.620475	0.96660	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	5.68	0.88126	.	0.068483	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7355	15.9265	0.79621	1.0:0.0:0.0:0.0	.	.	.	.	X	155	.	ENSP00000225805:L155X	L	-	2	0	C17orf75	27689367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.818000	0.91991	2.174000	0.68829	0.459000	0.35465	TTA	C17orf75	-	NULL	ENSG00000108666		0.388	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	-	0	48	0	A	NM_022344		30665254	-1	tier1	-	no_errors	ENST00000225805	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T	T	30665254	A	T	30665254	4	4	80	1	0	0	0	0	0	1	0	0	1886	372	13	5	754	5	C17orf75	17	30665254	Nonsense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	14774655	30665254	50529956	212	21213											
PLXDC1	57125	genome.wustl.edu	37	chr17	37234192	37234192	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggctgtcgatgaagAgggaggaggaggtagtggtg	9	8	22	2	1	0	3	0	2	0	1	1	7	0	6	0	7	0	2	0	7	2	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:37234192A>T	ENST00000315392.4	-	11	1371	c.1160T>A	c.(1159-1161)cTc>cAc	p.L387H	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.L347H	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	387					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCGATGAAGAGGGAGGAGGA	0.607																																																	0													159	115	130					17																	37234192		2203	4300	6503	SO:0001583	missense	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1160T>A	17.37:g.37234192A>T	ENSP00000323927:p.Leu387His		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.L387H	ENST00000315392.4	37	c.1160	CCDS11333.1	17	.	.	.	.	.	.	.	.	.	.	A	6.061	0.379568	0.11466	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000444911	T;T	0.29655	1.56;1.56	5.38	5.38	0.77491	.	0.655472	0.15232	N	0.273346	T	0.31327	0.0793	N	0.24115	0.695	0.80722	D	1	P;D	0.56521	0.94;0.976	P;P	0.54460	0.674;0.753	T	0.01484	-1.1343	10	0.14656	T	0.56	-19.6895	12.8825	0.58024	1.0:0.0:0.0:0.0	.	347;387	B4E173;Q8IUK5	.;PXDC1_HUMAN	H	387;314;347	ENSP00000323927:L387H;ENSP00000409687:L347H	ENSP00000323927:L387H	L	-	2	0	PLXDC1	34487718	0.996000	0.38824	0.433000	0.26760	0.026000	0.11368	3.468000	0.53086	2.269000	0.75478	0.533000	0.62120	CTC	PLXDC1	-	NULL	ENSG00000161381		0.607	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2	-	0	24	0	A	NM_020405		37234192	-1	tier1	-	no_errors	ENST00000315392	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.672	T	T	37234192	A	T	37234192	3	4	80	1	0	0	0	0	1	0	0	0	12156	304	11	5	358	5	PLXDC1	17	37234192	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	6568938	37234192	43961018	213	21214											
KRT27	342574	genome.wustl.edu	37	chr17	38933254	38933254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagaggctggagttcaGgaagacaccctctgttcatt	9	11	11	10	0	4	2	3	0	2	2	5	4	4	4	1	3	0	3	1	3	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:38933254G>A	ENST00000301656.3	-	8	1417	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTGGAGTTCAGGAAGACACCC	0.423																																																	0													107	109	108					17																	38933254		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1377C>T	17.37:g.38933254G>A				Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S459	ENST00000301656.3	37	c.1377	CCDS11375.1	17																																																																																			KRT27	-	NULL	ENSG00000171446		0.423	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	HGNC	protein_coding	OTTHUMT00000257216.1	-	0	63	0	G	NM_181537		38933254	-1	tier1	-	no_errors	ENST00000301656	ensembl	human	known	74_37	silent	64.29	15	27	SNP	0.773	A	A	38933254	G	A	38933254	2	1	80	1	0	0	0	0	0	0	0	1	8491	987	35	3		3	KRT27	17	38933254	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	1699062	38933254	42261956	214	21215											
KRTAP1-5	83895	genome.wustl.edu	37	chr17	39183284	39183284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatccgcagaagctagTctggcagctgcgtggctggc	8	7	16	10	2	1	1	0	0	1	1	2	2	2	2	1	4	3	5	1	4	3	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:39183284T>C	ENST00000361883.5	-	1	170	c.124A>G	c.(124-126)Act>Gct	p.T42A		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	42	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGAAGCTAGTCTGGCAGCTG	0.612																																																	0													46	52	50					17																	39183284		1994	4195	6189	SO:0001583	missense	0			AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"Keratin associated proteins"	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.124A>G	17.37:g.39183284T>C	ENSP00000355302:p.Thr42Ala		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	pfam_Keratin-assoc	p.T42A	ENST00000361883.5	37	c.124	CCDS42321.1	17	.	.	.	.	.	.	.	.	.	.	T	1.518	-0.547775	0.04024	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.31510	1.49	1.67	-1.06	0.10002	.	.	.	.	.	T	0.28234	0.0697	M	0.79475	2.455	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32771	-0.9894	9	0.32370	T	0.25	.	3.2953	0.06964	0.0:0.1651:0.2378:0.5971	.	42	Q9BYS1	KRA15_HUMAN	A	42	ENSP00000355302:T42A	ENSP00000355302:T42A	T	-	1	0	KRTAP1-5	36436810	0.002000	0.14202	0.000000	0.03702	0.135000	0.20990	-0.402000	0.07223	-0.325000	0.08577	0.260000	0.18958	ACT	KRTAP1-5	-	pfam_Keratin-assoc	ENSG00000221852		0.612	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP1-5	HGNC	protein_coding	OTTHUMT00000257691.1	-	0	156	0	T			39183284	-1	tier1	-	no_errors	ENST00000361883	ensembl	human	known	74_37	missense	15.28	122	22	SNP	0.000	C	C	39183284	T	C	39183284	3	2	80	1	0	0	0	0	1	0	0	0	8531	1667	58	4	404	4	KRTAP1-5	17	39183284	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	250030	39183284	42011926	215	21216											
AOC3	8639	genome.wustl.edu	37	chr17	41003593	41003593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgctttctgacccagcGgctggggccagggctggtgg	4	8	18	11	2	1	1	0	1	1	0	1	2	1	1	2	6	2	3	2	6	0	1	rs402680	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:41003593G>A	ENST00000308423.2	+	1	393	c.233G>A	c.(232-234)cGg>cAg	p.R78Q	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	78			R -> Q (in dbSNP:rs402680).		amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTGACCCAGCGGCTGGGGCCA	0.657													G|||	2	0.000399361	0.0015	0	5008	,	,		15314	0		0	False		,,,				2504	0				NSCLC(3;192 220 10664 11501 16477)												0								G	GLN/ARG	9,4397	11.4+/-27.6	0,9,2194	76	86	83		233	1.6	0.1	17	dbSNP_80	83	0,8600		0,0,4300	no	missense	AOC3	NM_003734.2	43	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	benign	78/764	41003593	9,12997	2203	4300	6503	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.233G>A	17.37:g.41003593G>A	ENSP00000312326:p.Arg78Gln		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R78Q	ENST00000308423.2	37	c.233	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.142245	0.00332	0.002043	0.0	ENSG00000131471	ENST00000308423	T	0.31510	1.49	5.05	1.65	0.23941	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.763999	0.12414	N	0.470985	T	0.07683	0.0193	N	0.00608	-1.33	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.36163	-0.9759	10	0.02654	T	1	.	8.7811	0.34792	0.6636:0.0:0.3364:0.0	rs402680;rs7214408	78	Q16853	AOC3_HUMAN	Q	78	ENSP00000312326:R78Q	ENSP00000312326:R78Q	R	+	2	0	AOC3	38257119	0.000000	0.05858	0.081000	0.20488	0.034000	0.12701	0.791000	0.26915	0.103000	0.17682	0.591000	0.81541	CGG	AOC3	-	pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg	ENSG00000131471		0.657	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1		0	49	0	G	NM_003734		41003593	1			no_errors	ENST00000308423	ensembl	human	known	74_37	missense	45.71	19	16	SNP	0.045	A	A	41003593	G	A	41003593	3	1	80	1	0	0	0	0	1	0	0	0	728	1116	39	1	235	1	AOC3	17	41003593	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	1820309	41003593	40191617	216	21217											
BRIP1	83990	genome.wustl.edu	37	chr17	59760671	59760671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtattattacttaaaaccagGaaacatgcctttatttttgg	13	16	6	6	0	0	0	0	0	0	0	0	1	0	1	2	2	4	1	2	2	7	8			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:59760671G>T	ENST00000259008.2	-	20	4003	c.3736C>A	c.(3736-3738)Cct>Act	p.P1246T		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1246					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTAAAACCAGGAAACATGCCT	0.274			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"Fanconi anaemia J, breast cancer susceptiblity"	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"L, E"	0													61	65	64					17																	59760671		2202	4290	6492	SO:0001583	missense	0			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"Fanconi anemia, complementation groups"	20473	protein-coding gene	gene with protein product	"BRCA1/BRCA2-associated helicase 1"	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3736C>A	17.37:g.59760671G>T	ENSP00000259008:p.Pro1246Thr		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.P1246T	ENST00000259008.2	37	c.3736	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	G	3.053	-0.195028	0.06259	.	.	ENSG00000136492	ENST00000259008	T	0.77877	-1.13	4.65	2.52	0.30459	.	.	.	.	.	T	0.57198	0.2037	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.37526	-0.9702	8	.	.	.	.	6.4666	0.21985	0.0999:0.0:0.7173:0.1828	.	1246	Q9BX63	FANCJ_HUMAN	T	1246	ENSP00000259008:P1246T	.	P	-	1	0	BRIP1	57115453	0.047000	0.20315	0.058000	0.19502	0.059000	0.15707	1.980000	0.40618	2.274000	0.75844	0.467000	0.42956	CCT	BRIP1	-	NULL	ENSG00000136492		0.274	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1		0	43	0	G	NM_032043		59760671	-1			no_errors	ENST00000259008	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.018	T	T	59760671	G	T	59760671	3	4	80	1	0	0	0	0	1	0	0	0	1518	1174	41	3	17	3	BRIP1	17	59760671	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	18757078	59760671	21434539	217	21218											
FTSJ3	11325	genome.wustl.edu	37	chr17	61899383	61899383	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgtcccctgactcctGccagctcctctggatccagg	5	10	9	17	0	1	2	0	2	1	0	5	3	5	3	7	2	2	1	7	2	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:61899383G>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.A479E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CCTGACTCCTGCCAGCTCCTC	0.532																																																	0													137	111	120					17																	61899383		2203	4300	6503	SO:0001628	intergenic_variant	0			BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"DEAD-boxes"	18676	protein-coding gene	gene with protein product	"splicing factor 3b, subunit 8"	613369	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899383G>T			A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.A479E	ENST00000578681.1	37	c.1436	CCDS32704.1	17	.	.	.	.	.	.	.	.	.	.	G	6.835	0.523243	0.13066	.	.	ENSG00000108592	ENST00000427159	T	0.28666	1.6	5.21	5.21	0.72293	.	0.242522	0.33515	N	0.004836	T	0.16769	0.0403	N	0.22421	0.69	0.34224	D	0.675745	B	0.22276	0.067	B	0.15052	0.012	T	0.10965	-1.0607	10	0.02654	T	1	-15.9625	11.222	0.48860	0.0:0.0:0.8174:0.1826	.	479	Q8IY81	RRMJ3_HUMAN	E	479	ENSP00000396673:A479E	ENSP00000396673:A479E	A	-	2	0	FTSJ3	59253115	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.868000	0.48436	2.716000	0.92895	0.650000	0.86243	GCA	FTSJ3	-	NULL	ENSG00000108592		0.532	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444368.1	-	0	31	0	G	NM_007372		61899383	-1	tier1	-	no_errors	ENST00000427159	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	61899383	G	T	61899383	1	4	80	0	1	0	0	0	0	0	0	0	6113	1319	46	3		3	FTSJ3	17	61899383	IGR	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	2138712	61899383	19295827	218	21219											
GNA13	10672	genome.wustl.edu	37	chr17	63049657	63049657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccggtcataggcattctgtAtgccgctgtctgcccataat	7	12	10	12	2	3	0	1	0	2	0	3	0	3	0	3	2	2	3	3	2	3	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:63049657A>G	ENST00000439174.2	-	2	718	c.473T>C	c.(472-474)aTa>aCa	p.I158T	GNA13_ENST00000541118.1_Missense_Mutation_p.I63T|RP11-583F2.5_ENST00000581796.1_RNA	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	158					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.I158K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GGCATTCTGTATGCCGCTGTC	0.428																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											99	102	101					17																	63049657		2203	4300	6503	SO:0001583	missense	0			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.473T>C	17.37:g.63049657A>G	ENSP00000400717:p.Ile158Thr		B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.I158T	ENST00000439174.2	37	c.473	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527374	0.85706	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.90732	-2.72;-2.72	5.42	5.42	0.78866	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.81179	2.53	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.95878	0.8896	10	0.87932	D	0	.	15.4962	0.75653	1.0:0.0:0.0:0.0	.	158	Q14344	GNA13_HUMAN	T	158;63;133	ENSP00000400717:I158T;ENSP00000439647:I63T	ENSP00000239138:I133T	I	-	2	0	GNA13	60480119	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.962000	0.93254	2.058000	0.61347	0.533000	0.62120	ATA	GNA13	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000120063		0.428	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1		0	39	0	A	NM_006572		63049657	-1			no_errors	ENST00000439174	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	G	G	63049657	A	G	63049657	3	3	80	1	0	0	0	0	1	0	0	0	6527	449	16	4	672	4	GNA13	17	63049657	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	1150274	63049657	18145553	219	21220											
APOH	350	genome.wustl.edu	37	chr17	64224243	64224243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcaggaatacgtaatctCttctcctggctcatagaatg	10	13	8	10	1	3	1	1	0	2	1	5	2	3	2	1	2	2	3	1	2	5	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:64224243C>T	ENST00000205948.6	-	2	173	c.136G>A	c.(136-138)Gag>Aag	p.E46K		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	46	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TACGTAATCTCTTCTCCTGGC	0.483																																					Melanoma(155;624 1882 16869 48804 51309)												0													203	188	193					17																	64224243		2203	4300	6503	SO:0001583	missense	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.136G>A	17.37:g.64224243C>T	ENSP00000205948:p.Glu46Lys		B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E46K	ENST00000205948.6	37	c.136	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	C	8.406	0.843034	0.16963	.	.	ENSG00000091583	ENST00000205948	T	0.62364	0.03	5.67	-3.31	0.04988	Complement control module (2);Sushi/SCR/CCP (3);	0.561897	0.18660	N	0.134748	T	0.48187	0.1486	L	0.28608	0.87	0.25753	N	0.985036	P	0.37466	0.596	B	0.33568	0.166	T	0.33701	-0.9858	10	0.20046	T	0.44	.	23.7708	0.99985	0.0:0.792:0.208:0.0	.	46	P02749	APOH_HUMAN	K	46	ENSP00000205948:E46K	ENSP00000205948:E46K	E	-	1	0	APOH	61654705	0.841000	0.29509	0.836000	0.33094	0.006000	0.05464	-0.010000	0.12743	-0.424000	0.07382	-0.971000	0.02607	GAG	APOH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000091583		0.483	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	-	0	52	0	C	NM_000042		64224243	-1	tier1	-	no_errors	ENST00000205948	ensembl	human	known	74_37	missense	28.00	36	14	SNP	0.794	T	T	64224243	C	T	64224243	3	4	80	1	0	0	0	0	1	0	0	0	804	922	32	3	929	3	APOH	17	64224243	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1174586	64224243	16970967	220	21221											
SLC9A3R1	9368	genome.wustl.edu	37	chr17	72764670	72764670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtctacctcctcctccGaccccatcctagacttcaac	7	10	3	21	2	2	1	1	0	1	1	7	2	6	1	8	0	2	0	8	0	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:72764670G>T	ENST00000262613.5	+	6	1147	c.952G>T	c.(952-954)Gac>Tac	p.D318Y	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.D162Y	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	318					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						CTCCTCCTCCGACCCCATCCT	0.587																																																	0													159	165	163					17																	72764670		2203	4300	6503	SO:0001583	missense	0			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.952G>T	17.37:g.72764670G>T	ENSP00000262613:p.Asp318Tyr		B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.D318Y	ENST00000262613.5	37	c.952	CCDS11705.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.90|10.90	1.481639|1.481639	0.26598|0.26598	.|.	.|.	ENSG00000109062|ENSG00000109062	ENST00000262613|ENST00000413388	T|.	0.37411|.	1.2|.	4.89|4.89	4.89|4.89	0.63831|0.63831	EBP50, C-terminal (1);|.	0.181905|.	0.45126|.	D|.	0.000388|.	T|T	0.54464|0.54464	0.1860|0.1860	L|L	0.34521|0.34521	1.04|1.04	0.38541|0.38541	D|D	0.949227|0.949227	D|.	0.71674|.	0.998|.	D|.	0.74674|.	0.984|.	T|T	0.57888|0.57888	-0.7733|-0.7733	10|6	0.87932|0.42905	D|T	0|0.14	-29.3099|-29.3099	10.8165|10.8165	0.46580|0.46580	0.0902:0.0:0.9098:0.0|0.0902:0.0:0.9098:0.0	.|.	318|.	O14745|.	NHRF1_HUMAN|.	Y|L	318|205	ENSP00000262613:D318Y|.	ENSP00000262613:D318Y|ENSP00000398782:R205L	D|R	+|+	1|2	0|0	SLC9A3R1|SLC9A3R1	70276265|70276265	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.983000|0.983000	0.72400|0.72400	7.093000|7.093000	0.76937|0.76937	2.270000|2.270000	0.75569|0.75569	0.591000|0.591000	0.81541|0.81541	GAC|CGA	SLC9A3R1	-	pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF	ENSG00000109062		0.587	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R1	HGNC	protein_coding	OTTHUMT00000443671.1		0	57	0	G			72764670	1			no_errors	ENST00000262613	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.991	T	T	72764670	G	T	72764670	3	4	80	1	0	0	0	0	1	0	0	0	14759	1058	37	2	974	2	SLC9A3R1	17	72764670	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	8540427	72764670	8430540	221	21222											
TNRC6C	57690	genome.wustl.edu	37	chr17	76099514	76099514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgatggttctacactgcGgacattgtgtttgcaacatg	9	14	11	7	1	1	1	0	1	1	0	1	3	1	2	0	2	4	3	0	2	2	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr17:76099514G>T	ENST00000588061.1	+	21	5319	c.4592G>T	c.(4591-4593)cGg>cTg	p.R1531L	TNRC6C_ENST00000588847.1_Missense_Mutation_p.R1567L|TNRC6C_ENST00000301624.4_Missense_Mutation_p.R1531L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.R1531L|TNRC6C_ENST00000335749.4_Missense_Mutation_p.R1567L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.R1567L			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1531	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCTACACTGCGGACATTGTGT	0.463																																																	0													92	89	90					17																	76099514		1972	4162	6134	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4592G>T	17.37:g.76099514G>T	ENSP00000468647:p.Arg1531Leu		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.R1567L	ENST00000588061.1	37	c.4700	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386224	0.82902	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.34	4.34	0.51931	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.986;0.999	T	0.74456	-0.3659	10	0.66056	D	0.02	-16.9324	16.864	0.86025	0.0:0.0:1.0:0.0	.	1567;1531	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	L	1531;1567;1567;1531;1531;1567	ENSP00000336783:R1567L;ENSP00000301624:R1531L;ENSP00000440310:R1531L;ENSP00000442421:R1567L	ENSP00000301624:R1531L	R	+	2	0	TNRC6C	73611109	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	8.000000	0.88501	1.949000	0.56562	0.561000	0.74099	CGG	TNRC6C	-	NULL	ENSG00000078687		0.463	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	-	0	65	0	G	NM_018996		76099514	1	tier1	-	no_errors	ENST00000335749	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	76099514	G	T	76099514	3	4	80	1	0	0	0	0	1	0	0	0	16389	1116	39	2	4779	2	TNRC6C	17	76099514	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	3334844	76099514	5095696	222	21223											
KCTD1	284252	genome.wustl.edu	37	chr18	24056534	24056534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagaaaattcaagatatatCtgaacatctgtccatctctg	14	13	6	8	0	4	3	1	1	3	2	6	3	5	3	1	0	1	1	1	0	7	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr18:24056534C>G	ENST00000408011.3	-	3	813	c.254G>C	c.(253-255)aGa>aCa	p.R85T	KCTD1_ENST00000579973.1_Missense_Mutation_p.R85T|KCTD1_ENST00000580059.1_Missense_Mutation_p.R85T|KCTD1_ENST00000417602.1_Missense_Mutation_p.R693T|KCTD1_ENST00000317932.7_Missense_Mutation_p.R85T	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	85	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CAAGATATATCTGAACATCTG	0.368																																																	0													93	81	85					18																	24056534		2203	4300	6503	SO:0001583	missense	0			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"potassium channel tetramerisation domain containing 1"	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.254G>C	18.37:g.24056534C>G	ENSP00000384367:p.Arg85Thr		A8K1F5	Missense_Mutation	SNP	pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.R693T	ENST00000408011.3	37	c.2078	CCDS11888.1	18	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934882	0.92458	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.49139	0.79;0.79;0.79	5.78	5.78	0.91487	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.80183	2.485	0.80722	D	1	D	0.63046	0.992	D	0.70016	0.967	T	0.73827	-0.3860	10	0.62326	D	0.03	.	20.0026	0.97425	0.0:1.0:0.0:0.0	.	85	Q719H9	KCTD1_HUMAN	T	85;693;85	ENSP00000314831:R85T;ENSP00000408405:R693T;ENSP00000384367:R85T	ENSP00000314831:R85T	R	-	2	0	KCTD1	22310532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.405000	0.80007	2.722000	0.93159	0.650000	0.86243	AGA	KCTD1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000134504		0.368	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	KCTD1	HGNC	protein_coding	OTTHUMT00000446265.1		0	50	0	C	XM_209091		24056534	-1			no_errors	ENST00000417602	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	G	G	24056534	C	G	24056534	3	3	80	1	0	0	0	0	1	0	0	0	8123	913	32	5	531	5	KCTD1	18	24056534	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		24056534	54020714	223	21224											
ASXL3	80816	genome.wustl.edu	37	chr18	31325070	31325070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatccgctggtgacgcagtTactacagggcaacctgcctt	9	9	10	13	2	0	1	0	1	0	0	1	1	1	1	3	2	4	4	3	2	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr18:31325070T>C	ENST00000269197.5	+	12	5258	c.5258T>C	c.(5257-5259)tTa>tCa	p.L1753S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1753					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTGACGCAGTTACTACAGGGC	0.532																																																	0													62	62	62					18																	31325070		1987	4182	6169	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5258T>C	18.37:g.31325070T>C	ENSP00000269197:p.Leu1753Ser		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.L1753S	ENST00000269197.5	37	c.5258	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	T	17.50	3.404111	0.62288	.	.	ENSG00000141431	ENST00000269197	T	0.55052	0.54	5.86	5.86	0.93980	.	.	.	.	.	T	0.63189	0.2490	L	0.29908	0.895	0.38067	D	0.93624	D	0.89917	1.0	D	0.85130	0.997	T	0.69544	-0.5117	9	0.87932	D	0	.	16.255	0.82510	0.0:0.0:0.0:1.0	.	1753	Q9C0F0	ASXL3_HUMAN	S	1753	ENSP00000269197:L1753S	ENSP00000269197:L1753S	L	+	2	0	ASXL3	29579068	0.995000	0.38212	0.033000	0.17914	0.947000	0.59692	7.466000	0.80914	2.240000	0.73641	0.533000	0.62120	TTA	ASXL3	-	NULL	ENSG00000141431		0.532	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	20	0	T			31325070	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.748	C	C	31325070	T	C	31325070	3	2	80	1	0	0	0	0	1	0	0	0	1069	1764	61	4	5304	4	ASXL3	18	31325070	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	7268536	31325070	46752178	224	21225											
DTNA	1837	genome.wustl.edu	37	chr18	32395957	32395957	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggttgcctcttctgcatCgactagcaaatgtggaaaat	10	13	9	9	1	3	0	0	0	3	0	4	2	3	1	1	2	3	3	1	2	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr18:32395957C>T	ENST00000399113.3	+	6	688	c.688C>T	c.(688-690)Cga>Tga	p.R230*	DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000269191.6_Nonsense_Mutation_p.R230*|DTNA_ENST00000269190.7_Nonsense_Mutation_p.R230*|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000315456.6_Nonsense_Mutation_p.R230*|DTNA_ENST00000598142.1_Nonsense_Mutation_p.R230*|DTNA_ENST00000595022.1_Nonsense_Mutation_p.R230*|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000597599.1_Nonsense_Mutation_p.R230*|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000399121.5_Nonsense_Mutation_p.R230*|DTNA_ENST00000598334.1_Nonsense_Mutation_p.R230*|DTNA_ENST00000444659.1_Nonsense_Mutation_p.R230*|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000554864.3_Nonsense_Mutation_p.R230*|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000601125.1_5'Flank|DTNA_ENST00000598774.1_Nonsense_Mutation_p.R230*|DTNA_ENST00000283365.9_Nonsense_Mutation_p.R230*|DTNA_ENST00000348997.5_Nonsense_Mutation_p.R230*			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	230	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTTCTGCATCGACTAGCAAA	0.408																																																	0													146	140	142					18																	32395957		2203	4300	6503	SO:0001587	stop_gained	0			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.688C>T	18.37:g.32395957C>T	ENSP00000382064:p.Arg230*		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Nonsense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R230*	ENST00000399113.3	37	c.688	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.812242	0.96975	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	.	.	.	6.04	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2892	14.4127	0.67124	0.2685:0.7315:0.0:0.0	.	.	.	.	X	230	.	ENSP00000269190:R230X	R	+	1	2	DTNA	30649955	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.871000	0.63042	1.550000	0.49438	0.563000	0.77884	CGA	DTNA	-	pfam_EF-hand_dom_typ2,pirsf_Distrobrevin	ENSG00000134769		0.408	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	-	0	75	0	C	NM_001390		32395957	1	tier1	-	no_errors	ENST00000269190	ensembl	human	known	74_37	nonsense	31.58	39	18	SNP	1.000	T	T	32395957	C	T	32395957	4	4	80	1	0	0	0	0	0	1	0	0	4802	876	31	1	710	1	DTNA	18	32395957	Nonsense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1070887	32395957	45681291	225	21226											
ABCA7	10347	genome.wustl.edu	37	chr19	1046340	1046340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgtccgcgtgctcagCggcgccaacccccgggccgg	4	3	15	19	7	1	0	1	0	0	0	2	0	2	0	6	3	4	2	6	3	1	0	rs369256437	byFrequency	TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:1046340C>T	ENST00000263094.6	+	13	1788	c.1557C>T	c.(1555-1557)agC>agT	p.S519S	ABCA7_ENST00000435683.2_Silent_p.S381S|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Silent_p.S519S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	519					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGCTCAGCGGCGCCAACC	0.706													C|||	4	0.000798722	0.003	0	5008	,	,		12125	0		0	False		,,,				2504	0																0										2,4404	4.2+/-10.8	0,2,2201	134	141	139		1557	-3.5	0.9	19		139	0,8592		0,0,4296	no	coding-synonymous	ABCA7	NM_019112.3		0,2,6497	TT,TC,CC		0.0,0.0454,0.0154		519/2147	1046340	2,12996	2203	4296	6499	SO:0001819	synonymous_variant	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"ATP binding cassette transporters / subfamily A"	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1557C>T	19.37:g.1046340C>T			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S519	ENST00000263094.6	37	c.1557	CCDS12055.1	19																																																																																			ABCA7	-	NULL	ENSG00000064687		0.706	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1		0	91	0	C	NM_019112		1046340	1			no_errors	ENST00000263094	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.843	T	T	1046340	C	T	1046340	2	4	80	1	0	0	0	0	0	0	0	1	37	767	27	1		1	ABCA7	19	1046340	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		1046340	58082643	226	21227											
C19orf36	113177	genome.wustl.edu	37	chr19	2098979	2098979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttcatgaacagaccaCgctcctctgccttctcctgg	6	12	9	14	1	3	2	1	1	2	1	5	2	4	2	4	2	2	2	4	2	1	2	rs535248980		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:2098979C>T	ENST00000395301.3	+	9	623	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	IZUMO4_ENST00000395307.2_Intron|IZUMO4_ENST00000588003.1_3'UTR|MOB3A_ENST00000357066.3_5'Flank	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	187						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						GAACAGACCACGCTCCTCTGC	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		15169	0		0	False		,,,				2504	0																0													92	102	99					19																	2098979		2144	4233	6377	SO:0001583	missense	0			BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"-"	26950	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 36"	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.559C>T	19.37:g.2098979C>T	ENSP00000378712:p.Arg187Cys		A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Missense_Mutation	SNP	NULL	p.R187C	ENST00000395301.3	37	c.559	CCDS42458.1	19	.	.	.	.	.	.	.	.	.	.	C	9.536	1.112139	0.20795	.	.	ENSG00000099840	ENST00000395301	T	0.25749	1.78	3.78	-7.55	0.01327	.	.	.	.	.	T	0.08935	0.0221	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	9	0.59425	D	0.04	.	1.1674	0.01818	0.1338:0.2372:0.3132:0.3158	.	187	Q1ZYL8	IZUM4_HUMAN	C	187	ENSP00000378712:R187C	ENSP00000378712:R187C	R	+	1	0	IZUMO4	2049979	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.990000	0.00658	-2.226000	0.00723	-0.481000	0.04817	CGC	IZUMO4	-	NULL	ENSG00000099840		0.617	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	IZUMO4	HGNC	protein_coding	OTTHUMT00000280536.3	-	0	39	0	C	NM_052878		2098979	1	tier1	-	no_errors	ENST00000395301	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.000	T	T	2098979	C	T	2098979	3	4	80	1	0	0	0	0	1	0	0	0	1928	536	19	1	593	1	C19orf36	19	2098979	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1052639	2098979	57030004	227	21228											
INSR	3643	genome.wustl.edu	37	chr19	7166284	7166284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccagggcttgagacccCgcatcagccaccctgggtgg	6	6	15	14	1	1	1	1	1	0	1	2	2	2	1	5	4	1	2	5	4	0	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:7166284C>T	ENST00000302850.5	-	8	1884	c.1742G>A	c.(1741-1743)cGg>cAg	p.R581Q	INSR_ENST00000341500.5_Missense_Mutation_p.R581Q	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	581					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	CTTGAGACCCCGCATCAGCCA	0.557																																																	0													96	87	90					19																	7166284		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1742G>A	19.37:g.7166284C>T	ENSP00000303830:p.Arg581Gln		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.R581Q	ENST00000302850.5	37	c.1742	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	C	7.858	0.725529	0.15439	.	.	ENSG00000171105	ENST00000302850;ENST00000341500;ENST00000538006	T;T	0.69435	-0.4;-0.4	5.08	5.08	0.68730	Fibronectin, type III (1);	0.000000	0.40302	U	0.001129	T	0.56046	0.1959	L	0.39898	1.24	0.36714	D	0.880805	B;B;B	0.14438	0.003;0.01;0.006	B;B;B	0.12156	0.002;0.007;0.001	T	0.56372	-0.7990	10	0.09843	T	0.71	.	15.9818	0.80116	0.0:1.0:0.0:0.0	.	572;581;581	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	Q	581;581;44	ENSP00000303830:R581Q;ENSP00000342838:R581Q	ENSP00000303830:R581Q	R	-	2	0	INSR	7117284	0.923000	0.31300	0.975000	0.42487	0.265000	0.26407	2.609000	0.46317	2.349000	0.79799	0.655000	0.94253	CGG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000171105		0.557	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	-	0	42	0	C			7166284	-1	tier1	-	no_errors	ENST00000302850	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.861	T	T	7166284	C	T	7166284	3	4	80	1	0	0	0	0	1	0	0	0	7800	652	23	1	2466	1	INSR	19	7166284	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	5067305	7166284	51962699	228	21229											
MUC16	94025	genome.wustl.edu	37	chr19	9063073	9063073	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctcagagctgctggtctTtctcagtccaagggtcaggg	6	10	12	13	0	4	1	3	0	2	1	6	1	5	1	3	3	2	2	3	3	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:9063073T>G	ENST00000397910.4	-	3	24576	c.24373A>C	c.(24373-24375)Aag>Cag	p.K8125Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8127	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCTGGTCTTTCTCAGTCCA	0.527																																																	0													127	124	125					19																	9063073		2000	4171	6171	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24373A>C	19.37:g.9063073T>G	ENSP00000381008:p.Lys8125Gln		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.K8125Q	ENST00000397910.4	37	c.24373	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	6.706	0.498855	0.12762	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	3.09	-6.17	0.02091	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.34147	0.438	B	0.31946	0.138	T	0.46261	-0.9204	8	0.87932	D	0	.	4.8854	0.13701	0.0:0.2588:0.2872:0.4541	.	8125	B5ME49	.	Q	8125	ENSP00000381008:K8125Q	ENSP00000381008:K8125Q	K	-	1	0	MUC16	8924073	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.905000	0.04075	-1.355000	0.02186	0.416000	0.27883	AAG	MUC16	-	NULL	ENSG00000181143		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	81	0	T	NM_024690		9063073	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	23.08	50	15	SNP	0.000	G	G	9063073	T	G	9063073	3	3	80	1	0	0	0	0	1	0	0	0	10011	1850	64	4	19478	4	MUC16	19	9063073	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	1896789	9063073	50065910	229	21230											
COL5A3	50509	genome.wustl.edu	37	chr19	10077032	10077032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggcaggtctctcctccCgccgtgaagttgcaaaaaac	11	8	10	12	2	1	2	0	1	1	1	4	2	3	2	3	2	2	3	3	2	5	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:10077032C>T	ENST00000264828.3	-	64	4825	c.4740G>A	c.(4738-4740)gcG>gcA	p.A1580A		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1580	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCTCTCCTCCCGCCGTGAAGT	0.602																																																	0													58	48	51					19																	10077032		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4740G>A	19.37:g.10077032C>T			Q9NZQ6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.A1580	ENST00000264828.3	37	c.4740	CCDS12222.1	19																																																																																			COL5A3	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000080573		0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	HGNC	protein_coding	OTTHUMT00000315788.1	-	0	52	0	C	NM_015719		10077032	-1	tier1	-	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	16.98	44	9	SNP	0.032	T	T	10077032	C	T	10077032	2	4	80	1	0	0	0	0	0	0	0	1	3705	639	23	1		1	COL5A3	19	10077032	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1013959	10077032	49051951	230	21231											
ZNF442	79973	genome.wustl.edu	37	chr19	12461334	12461334	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaggacaatcaaagcctttCccacatatcttacatttatg	13	13	4	11	0	2	0	1	0	1	0	3	1	3	1	2	1	2	0	2	1	6	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:12461334C>A	ENST00000242804.4	-	6	1647	c.1065G>T	c.(1063-1065)ggG>ggT	p.G355G	ZNF442_ENST00000438182.1_Silent_p.G286G|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CAAAGCCTTTCCCACATATCT	0.428																																																	0													216	208	211					19																	12461334		2203	4298	6501	SO:0001819	synonymous_variant	0			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"Zinc fingers, C2H2-type", "-"	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1065G>T	19.37:g.12461334C>A			B4DJ48	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G355	ENST00000242804.4	37	c.1065	CCDS12271.1	19																																																																																			ZNF442	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198342		0.428	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	-	0	104	0	C	NM_030824		12461334	-1	tier1	-	no_errors	ENST00000242804	ensembl	human	known	74_37	silent	6.02	78	5	SNP	0.995	A	A	12461334	C	A	12461334	2	1	80	1	0	0	0	0	0	0	0	1	17963	842	30	3		3	ZNF442	19	12461334	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2384302	12461334	46667649	231	21232											
BRD4	23476	genome.wustl.edu	37	chr19	15378297	15378297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtttcttctgtgggtagCtcatttattttttgcaagaa	7	19	9	6	1	3	1	1	0	2	1	4	1	3	1	0	2	2	4	0	2	4	8			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:15378297C>A	ENST00000263377.2	-	4	710	c.489G>T	c.(487-489)gaG>gaT	p.E163D	BRD4_ENST00000360016.5_Missense_Mutation_p.E163D|BRD4_ENST00000371835.4_Missense_Mutation_p.E163D	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	163					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTGTGGGTAGCTCATTTATTT	0.453			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													223	208	213					19																	15378297		2203	4300	6503	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.489G>T	19.37:g.15378297C>A	ENSP00000263377:p.Glu163Asp		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E163D	ENST00000263377.2	37	c.489	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	18.39	3.613045	0.66672	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.20332	2.08;2.08;2.08	5.54	2.24	0.28232	Bromodomain (3);	0.000000	0.64402	D	0.000003	T	0.14960	0.0361	L	0.57536	1.79	0.45541	D	0.998499	P;B;P	0.43857	0.819;0.1;0.638	B;B;B	0.30179	0.112;0.041;0.079	T	0.04607	-1.0939	10	0.41790	T	0.15	-18.1362	7.9463	0.29989	0.0:0.3503:0.0:0.6497	.	163;163;163	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	D	163	ENSP00000263377:E163D;ENSP00000360901:E163D;ENSP00000353112:E163D	ENSP00000263377:E163D	E	-	3	2	BRD4	15239297	0.999000	0.42202	0.998000	0.56505	0.990000	0.78478	0.485000	0.22324	0.084000	0.17077	-0.238000	0.12139	GAG	BRD4	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000141867		0.453	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	0	45	0	C	NM_058243		15378297	-1	tier1	-	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	15378297	C	A	15378297	3	1	80	1	0	0	0	0	1	0	0	0	1508	796	28	3	3682	3	BRD4	19	15378297	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2916963	15378297	43750686	232	21233											
RASAL3	64926	genome.wustl.edu	37	chr19	15571892	15571892	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaacgttgtggacctggttGggaccagcagtctccggttc	6	10	14	11	3	1	0	0	0	1	0	3	3	1	2	3	4	2	4	3	4	1	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:15571892G>T	ENST00000343625.7	-	5	670	c.585C>A	c.(583-585)ccC>ccA	p.P195P	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	195					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGACCTGGTTGGGACCAGCAG	0.577																																																	0													57	57	57					19																	15571892		1926	4124	6050	SO:0001819	synonymous_variant	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.585C>A	19.37:g.15571892G>T			Q8N2T9|Q9H735	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP	p.P195	ENST00000343625.7	37	c.585	CCDS46006.1	19																																																																																			RASAL3	-	NULL	ENSG00000105122		0.577	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3		0	66	0	G	NM_022904		15571892	-1			no_errors	ENST00000343625	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.986	T	T	15571892	G	T	15571892	2	4	80	1	0	0	0	0	0	0	0	1	13110	1335	47	3		3	RASAL3	19	15571892	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	193595	15571892	43557091	233	21234											
CYP4F2	8529	genome.wustl.edu	37	chr19	15989681	15989681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcaggacgcggaagCgcagcagcgtgagcgccagg	9	2	19	11	5	1	1	1	1	0	0	1	3	1	3	1	5	4	3	1	5	1	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:15989681C>T	ENST00000221700.6	-	13	1558	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACGCGGAAGCGCAGCAGCGT	0.677																																																	0													43	41	42					19																	15989681		2203	4300	6503	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1463G>A	19.37:g.15989681C>T	ENSP00000221700:p.Arg488His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R488H	ENST00000221700.6	37	c.1463	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344987	0.24426	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	T	0.70045	-0.45	2.63	0.368	0.16146	.	0.173875	0.35235	U	0.003349	T	0.52240	0.1722	L	0.41906	1.305	0.80722	D	1	B	0.29571	0.249	B	0.34242	0.178	T	0.32877	-0.9890	10	0.40728	T	0.16	.	5.2098	0.15310	0.0:0.5619:0.0:0.4381	.	488	P78329	CP4F2_HUMAN	H	488;339	ENSP00000221700:R488H	ENSP00000221700:R488H	R	-	2	0	CYP4F2	15850681	0.646000	0.27295	0.984000	0.44739	0.412000	0.31113	1.112000	0.31172	0.020000	0.15106	-0.424000	0.05967	CGC	CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000186115		0.677	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	-	0	130	0	C	NM_001082		15989681	-1	tier1	-	no_errors	ENST00000221700	ensembl	human	known	74_37	missense	23.81	80	25	SNP	1.000	T	T	15989681	C	T	15989681	3	4	80	1	0	0	0	0	1	0	0	0	4197	768	27	1	103	1	CYP4F2	19	15989681	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	417789	15989681	43139302	234	21235											
C19orf44	84167	genome.wustl.edu	37	chr19	16611880	16611880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggatccgagccaatgccGcactcatgaagctggcccag	10	5	11	15	2	1	1	1	1	0	0	2	3	2	2	5	2	3	2	5	2	2	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:16611880G>A	ENST00000221671.3	+	2	433	c.277G>A	c.(277-279)Gca>Aca	p.A93T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A93T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	93										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCCAATGCCGCACTCATGAA	0.567																																																	0													98	109	105					19																	16611880		2203	4300	6503	SO:0001583	missense	0			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.277G>A	19.37:g.16611880G>A	ENSP00000221671:p.Ala93Thr		Q8N6Y7	Missense_Mutation	SNP	NULL	p.A93T	ENST00000221671.3	37	c.277	CCDS12345.1	19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368082	0.82463	.	.	ENSG00000105072	ENST00000221671	.	.	.	5.3	5.3	0.74995	.	0.070955	0.53938	D	0.000047	T	0.66307	0.2776	M	0.68952	2.095	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.70716	0.946;0.97	T	0.61058	-0.7139	9	0.62326	D	0.03	-9.4081	15.7129	0.77644	0.0:0.0:1.0:0.0	.	93;93	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	T	93	.	ENSP00000221671:A93T	A	+	1	0	C19orf44	16472880	0.018000	0.18449	0.005000	0.12908	0.009000	0.06853	2.173000	0.42472	2.482000	0.83794	0.655000	0.94253	GCA	C19orf44	-	NULL	ENSG00000105072		0.567	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf44	HGNC	protein_coding	OTTHUMT00000461218.1	-	0	69	0	G	NM_032207		16611880	1	tier1	-	no_errors	ENST00000221671	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.019	A	A	16611880	G	A	16611880	3	1	80	1	0	0	0	0	1	0	0	0	1934	1087	38	1	279	1	C19orf44	19	16611880	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	622199	16611880	42517103	235	21236											
TSHZ3	57616	genome.wustl.edu	37	chr19	31769567	31769567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcgacttccgggcctcaaAgtgccatgcatagctggccc	7	8	11	15	2	1	0	1	0	0	0	2	1	2	0	4	2	4	2	4	2	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:31769567A>G	ENST00000240587.4	-	2	1459	c.1132T>C	c.(1132-1134)Ttt>Ctt	p.F378L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	378					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGGGCCTCAAAGTGCCATGCA	0.552																																																	0													203	196	198					19																	31769567		2203	4300	6503	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1132T>C	19.37:g.31769567A>G	ENSP00000240587:p.Phe378Leu		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.F378L	ENST00000240587.4	37	c.1132	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	A	20.3	3.961172	0.74016	.	.	ENSG00000121297	ENST00000240587	T	0.19532	2.14	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	N	0.24115	0.695	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.13255	-1.0516	10	0.62326	D	0.03	-24.468	15.5394	0.76031	1.0:0.0:0.0:0.0	.	378	Q63HK5	TSH3_HUMAN	L	378	ENSP00000240587:F378L	ENSP00000240587:F378L	F	-	1	0	TSHZ3	36461407	1.000000	0.71417	0.996000	0.52242	0.815000	0.46073	8.930000	0.92872	2.061000	0.61500	0.533000	0.62120	TTT	TSHZ3	-	NULL	ENSG00000121297		0.552	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	46	0	A	NM_020856		31769567	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	G	G	31769567	A	G	31769567	3	3	80	1	0	0	0	0	1	0	0	0	16673	72	3	4	2117	4	TSHZ3	19	31769567	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	15157687	31769567	27359416	236	21237											
UPK1A	11045	genome.wustl.edu	37	chr19	36168744	36168744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacacatcggccacgccatcGacagctacacgtggggtatc	11	6	10	14	4	0	0	0	0	0	0	3	1	0	0	2	3	3	2	2	3	3	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:36168744G>A	ENST00000222275.2	+	6	679	c.679G>A	c.(679-681)Gac>Aac	p.D227N	UPK1A_ENST00000379013.2_Silent_p.S259S	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	227					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACGCCATCGACAGCTACAC	0.637																																																	0													76	64	68					19																	36168744		2203	4300	6503	SO:0001583	missense	0			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"Tetraspanins"	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.679G>A	19.37:g.36168744G>A	ENSP00000222275:p.Asp227Asn		Q3KNU5|Q3KNU6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.D227N	ENST00000222275.2	37	c.679	CCDS12470.1	19	.	.	.	.	.	.	.	.	.	.	G	6.451	0.451436	0.12223	.	.	ENSG00000105668	ENST00000222275	T	0.78816	-1.21	5.43	3.08	0.35506	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.51160	0.1658	N	0.02916	-0.46	0.30268	N	0.792564	B	0.10296	0.003	B	0.06405	0.002	T	0.44817	-0.9303	9	0.17832	T	0.49	-1.1535	8.0726	0.30697	0.204:0.0:0.796:0.0	.	227	O00322	UPK1A_HUMAN	N	227	ENSP00000222275:D227N	ENSP00000222275:D227N	D	+	1	0	UPK1A	40860584	0.593000	0.26840	0.997000	0.53966	0.981000	0.71138	0.567000	0.23608	0.542000	0.28846	0.462000	0.41574	GAC	UPK1A	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000105668		0.637	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	-	0	81	0	G			36168744	1	tier1	-	no_errors	ENST00000222275	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.988	A	A	36168744	G	A	36168744	3	1	80	1	0	0	0	0	1	0	0	0	17056	1058	37	1	701	1	UPK1A	19	36168744	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	4399177	36168744	22960239	237	21238											
NPHS1	4868	genome.wustl.edu	37	chr19	36339237	36339237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatgtgagggtcagaccGttgtcctcccgccgcgccag	6	8	12	15	4	2	2	2	1	0	1	4	2	4	2	5	1	0	1	5	1	0	1	rs374218631		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:36339237G>A	ENST00000378910.5	-	10	1232	c.1233C>T	c.(1231-1233)aaC>aaT	p.N411N	NPHS1_ENST00000353632.6_Silent_p.N411N	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	411	Ig-like C2-type 4.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGTCAGACCGTTGTCCTCCC	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		16953	0		0	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	103	92	96		1233	-7.2	0.4	19		96	0,8600		0,0,4300	no	coding-synonymous	NPHS1	NM_004646.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		411/1242	36339237	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.1233C>T	19.37:g.36339237G>A			A6NDH2|C3RX61	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N411	ENST00000378910.5	37	c.1233	CCDS32996.1	19																																																																																			NPHS1	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000161270		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	-	0	53	0	G			36339237	-1	tier1	-	no_errors	ENST00000378910	ensembl	human	known	74_37	silent	35.14	23	13	SNP	0.677	A	A	36339237	G	A	36339237	2	1	80	1	0	0	0	0	0	0	0	1	10621	1136	40	1		1	NPHS1	19	36339237	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	170493	36339237	22789746	238	21239											
ZNF829	374899	genome.wustl.edu	37	chr19	37382913	37382913	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctcaccagtgtgaatTctctgatgatcattaaggtt	9	16	9	7	0	3	3	2	3	2	0	5	3	3	3	1	2	0	2	1	2	2	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:37382913T>C	ENST00000391711.3	-	6	1144	c.780A>G	c.(778-780)agA>agG	p.R260R	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Silent_p.R341R|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGTGTGAATTCTCTGATGAT	0.363																																																	0													45	48	47					19																	37382913		2201	4297	6498	SO:0001819	synonymous_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.780A>G	19.37:g.37382913T>C			Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R341	ENST00000391711.3	37	c.1023	CCDS42557.1	19																																																																																			ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.363	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	55	0	T	NM_001037232		37382913	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	silent	8.47	54	5	SNP	1.000	C	C	37382913	T	C	37382913	2	2	80	1	0	0	0	0	0	0	0	1	18230	1780	62	4		4	ZNF829	19	37382913	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	1043676	37382913	21746070	239	21240											
ZNF829	374899	genome.wustl.edu	37	chr19	37382962	37382962	+	Missense_Mutation	SNP	T	T	A																															acttaaaggcttttccacatTccttacattcatagggtttc																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:37382962T>A	ENST00000391711.3	-	6	1095	c.731A>T	c.(730-732)gAa>gTa	p.E244V	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.E325V|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCCACATTCCTTACATTC	0.373																																																	0													52	55	54					19																	37382962		2200	4298	6498	SO:0001583	missense	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.731A>T	19.37:g.37382962T>A	ENSP00000429266:p.Glu244Val		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E325V	ENST00000391711.3	37	c.974	CCDS42557.1	19	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636816	0.47049	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.04706	3.57	3.41	3.41	0.39046	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04407	0.0121	N	0.17564	0.495	0.09310	N	0.999999	P	0.39940	0.696	B	0.39771	0.309	T	0.41034	-0.9531	9	0.59425	D	0.04	.	11.7579	0.51886	0.0:0.0:0.0:1.0	.	244	Q3KNS6	ZN829_HUMAN	V	244	ENSP00000429266:E244V	ENSP00000429266:E244V	E	-	2	0	ZNF829	42074802	0.000000	0.05858	1.000000	0.80357	0.954000	0.61252	0.631000	0.24568	1.783000	0.52377	0.528000	0.53228	GAA	ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	63	0	T	NM_001037232		37382962	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.356	A	A	37382962	T	A	37382962	3	1	80	1	0	0	0	0	1	0	0	0	18230	1783	62	5	571	5	ZNF829	19	37382962	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	49	37382962	21746021	240	21241	85	2									
ZNF829	374899	genome.wustl.edu	37	chr19	37382964	37382964	+	Silent	SNP	C	C	T																															ttaaaggcttttccacattcCttacattcatagggtttctc																										TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:37382964C>T	ENST00000391711.3	-	6	1093	c.729G>A	c.(727-729)aaG>aaA	p.K243K	ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Silent_p.K324K|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCACATTCCTTACATTCAT	0.373																																																	0													53	56	55					19																	37382964		2200	4298	6498	SO:0001819	synonymous_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"Zinc fingers, C2H2-type", "-"	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.729G>A	19.37:g.37382964C>T			Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K324	ENST00000391711.3	37	c.972	CCDS42557.1	19																																																																																			ZNF829	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185869		0.373	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0	62	0	C	NM_001037232		37382964	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.066	T	T	37382964	C	T	37382964	2	4	80	1	0	0	0	0	0	0	0	1	18230	680	24	3		3	ZNF829	19	37382964	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2	37382964	21746019	241	21242	85	2									
CIC	23152	genome.wustl.edu	37	chr19	42796302	42796302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgccgcccctgagcccagCcacactccctggacccacct	6	5	9	21	1	0	1	0	1	0	0	1	2	1	2	8	2	3	0	8	2	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:42796302C>T	ENST00000575354.2	+	12	2991	c.2951C>T	c.(2950-2952)gCc>gTc	p.A984V	CIC_ENST00000160740.3_Missense_Mutation_p.A984V|CIC_ENST00000572681.2_Missense_Mutation_p.A1893V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	984	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGAGCCCAGCCACACTCCCT	0.647			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													52	60	57					19																	42796302		2203	4297	6500	SO:0001583	missense	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2951C>T	19.37:g.42796302C>T	ENSP00000458663:p.Ala984Val		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A984V	ENST00000575354.2	37	c.2951	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327985	0.60743	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.45316	0.1336	L	0.27053	0.805	0.39962	D	0.974671	B	0.32781	0.384	B	0.26517	0.07	T	0.53358	-0.8450	8	0.87932	D	0	-18.9028	16.1439	0.81551	0.0:1.0:0.0:0.0	.	984	Q96RK0	CIC_HUMAN	V	984	.	ENSP00000160740:A984V	A	+	2	0	CIC	47488142	0.975000	0.34042	0.853000	0.33588	0.976000	0.68499	2.174000	0.42482	2.686000	0.91538	0.561000	0.74099	GCC	CIC	-	NULL	ENSG00000079432		0.647	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	-	0	84	0	C			42796302	1	tier1	-	no_errors	ENST00000575354	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.986	T	T	42796302	C	T	42796302	3	4	80	1	0	0	0	0	1	0	0	0	3431	739	26	3	2997	3	CIC	19	42796302	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	5413338	42796302	16332681	242	21243											
SNRPD2	6633	genome.wustl.edu	37	chr19	46191713	46191713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgagcacttgggtattGttcttgactgactgtgtgag	7	16	13	5	0	1	5	0	5	1	0	1	5	1	5	0	1	1	3	0	1	1	6			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:46191713G>A	ENST00000342669.3	-	2	558	c.114C>T	c.(112-114)aaC>aaT	p.N38N	SNRPD2_ENST00000590212.1_Silent_p.N38N|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000391932.3_Silent_p.N28N|SNRPD2_ENST00000588599.1_Silent_p.N28N|SNRPD2_ENST00000587367.1_Silent_p.N28N|SNRPD2_ENST00000588301.1_Silent_p.N38N	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	38				N -> S (in Ref. 5; BU531743). {ECO:0000305}.	gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTTGGGTATTGTTCTTGACTG	0.547																																																	0													201	162	175					19																	46191713		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"snRNP core protein D2"	601061	"small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.114C>T	19.37:g.46191713G>A			A8K797|J3KPM5|P43330	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.N38	ENST00000342669.3	37	c.114	CCDS33053.1	19																																																																																			SNRPD2	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	ENSG00000125743		0.547	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	-	0	78	0	G	NM_004597		46191713	-1	tier1	-	no_errors	ENST00000342669	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A	A	46191713	G	A	46191713	2	1	80	1	0	0	0	0	0	0	0	1	14910	1368	48	3		3	SNRPD2	19	46191713	Silent	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	3395411	46191713	12937270	243	21244											
KCNC3	3748	genome.wustl.edu	37	chr19	50826458	50826458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtggtgcgggtggggCgggggtggcgggggtgggtc	0	7	27	7	4	0	0	0	0	0	0	1	0	0	0	1	10	2	0	1	10	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:50826458C>T	ENST00000477616.1	-	2	2046	c.1752G>A	c.(1750-1752)ccG>ccA	p.P584P	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000376959.2_Silent_p.P584P|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	584	Poly-Pro.				cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GCGGGTGGGGCGGGGGTGGCG	0.721																																					Melanoma(91;1496 2324 50908)												0													1	2	2					19																	50826458		1080	2445	3525	SO:0001819	synonymous_variant	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6235	protein-coding gene	gene with protein product		176264	"spinocerebellar ataxia 13"	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1752G>A	19.37:g.50826458C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.P584	ENST00000477616.1	37	c.1752	CCDS12793.1	19																																																																																			KCNC3	-	prints_K_chnl_volt-dep_Kv3.3	ENSG00000131398		0.721	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	-	0	22	0	C	NM_004977		50826458	-1	tier1	-	no_errors	ENST00000477616	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.003	T	T	50826458	C	T	50826458	2	4	80	1	0	0	0	0	0	0	0	1	8043	755	27	1		1	KCNC3	19	50826458	Silent	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	4634745	50826458	8302525	244	21245											
ZNF175	7728	genome.wustl.edu	37	chr19	52090051	52090051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaatcaaattcaacccaTgagtcacagtgctttcttca	14	11	5	11	0	5	1	4	1	1	0	5	1	5	1	1	0	2	2	1	0	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr19:52090051T>C	ENST00000262259.2	+	5	825	c.467T>C	c.(466-468)aTg>aCg	p.M156T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	156					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		ATTCAACCCATGAGTCACAGT	0.433																																																	0													90	85	87					19																	52090051		2203	4300	6503	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"Zinc fingers, C2H2-type", "-"	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.467T>C	19.37:g.52090051T>C	ENSP00000262259:p.Met156Thr		A8K9H2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M156T	ENST00000262259.2	37	c.467	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	T	0.076	-1.192808	0.01607	.	.	ENSG00000105497	ENST00000262259	T	0.06294	3.32	2.2	-3.2	0.05156	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	9	0.17832	T	0.49	.	4.1164	0.10083	0.1762:0.4658:0.0:0.358	.	156	Q9Y473	ZN175_HUMAN	T	156	ENSP00000262259:M156T	ENSP00000262259:M156T	M	+	2	0	ZNF175	56781863	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.095000	0.11077	-0.938000	0.03714	-2.033000	0.00422	ATG	ZNF175	-	NULL	ENSG00000105497		0.433	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	-	0	39	0	T	NM_007147		52090051	1	tier1	-	no_errors	ENST00000262259	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.000	C	C	52090051	T	C	52090051	3	2	80	1	0	0	0	0	1	0	0	0	17793	1464	51	4	481	4	ZNF175	19	52090051	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	1263593	52090051	7038932	245	21246											
PLCB4	5332	genome.wustl.edu	37	chr20	9449234	9449234	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagggaaagcaaggaaatgCgagcacaccaggctaagatt	17	5	12	7	1	0	1	0	0	0	1	0	4	0	3	1	3	3	3	1	3	5	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr20:9449234C>T	ENST00000378493.1	+	32	3244	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	PLCB4_ENST00000378473.3_Nonsense_Mutation_p.R1089*|PLCB4_ENST00000378501.2_Nonsense_Mutation_p.R1077*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Nonsense_Mutation_p.R1077*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.R1077*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.R1089*			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1077					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAAGGAAATGCGAGCACACCA	0.413																																																	0													143	142	142					20																	9449234		2203	4300	6503	SO:0001587	stop_gained	0				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3229C>T	20.37:g.9449234C>T	ENSP00000367754:p.Arg1077*		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Nonsense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.R1077*	ENST00000378493.1	37	c.3229	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	C	43	9.995805	0.99313	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.75	-1.96	0.07525	.	0.067617	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	19.4281	0.94754	0.7649:0.235:0.0:0.0	.	.	.	.	X	1077;1089;1077;1077;1077;925	.	ENSP00000278655:R1077X	R	+	1	2	PLCB4	9397234	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	0.859000	0.27858	-0.683000	0.05190	-0.181000	0.13052	CGA	PLCB4	-	pirsf_PLC-beta	ENSG00000101333		0.413	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	HGNC	protein_coding	OTTHUMT00000077948.2		0	47	0	C			9449234	1			no_errors	ENST00000334005	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	9449234	C	T	9449234	4	4	80	1	0	0	0	0	0	1	0	0	12069	760	27	1	3395	1	PLCB4	20	9449234	Nonsense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09		9449234	53576286	246	21247											
XKR7	343702	genome.wustl.edu	37	chr20	30584967	30584967	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggactacaggtgctGagcgggatggggcctcggcg	7	6	18	10	3	0	1	0	1	0	0	1	3	0	3	2	6	4	1	2	6	2	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr20:30584967G>T	ENST00000562532.2	+	3	1621	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	483						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TACAGGTGCTGAGCGGGATGG	0.687																																																	0													29	31	30					20																	30584967		2203	4299	6502	SO:0001587	stop_gained	0			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1447G>T	20.37:g.30584967G>T	ENSP00000477059:p.Glu483*		Q9NUG5	Nonsense_Mutation	SNP	pfam_Transport_prot_XK	p.E483*	ENST00000562532.2	37	c.1447	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.202741	0.97371	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.782790	0.12288	N	0.482266	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.2848	15.2794	0.73770	0.0:0.0:1.0:0.0	.	.	.	.	X	483	.	ENSP00000217299:E483X	E	+	1	0	XKR7	30048628	1.000000	0.71417	0.950000	0.38849	0.836000	0.47400	6.421000	0.73353	2.518000	0.84900	0.561000	0.74099	GAG	XKR7	-	NULL	ENSG00000260903		0.687	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3		0	34	0	G	NM_001011718		30584967	1			no_errors	ENST00000562532	ensembl	human	known	74_37	nonsense	6.12	46	3	SNP	1.000	T	T	30584967	G	T	30584967	4	4	80	1	0	0	0	0	0	1	0	0	17485	1291	45	3	1457	3	XKR7	20	30584967	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	21135733	30584967	32440553	247	21248											
VAPB	9217	genome.wustl.edu	37	chr20	57016116	57016116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgaagttcagaggctaCgggaggagaacaagcagttc	14	6	15	6	1	1	3	1	1	0	2	2	5	1	4	0	4	3	4	0	4	5	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr20:57016116C>T	ENST00000475243.1	+	5	888	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	184					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TCAGAGGCTACGGGAGGAGAA	0.428																																																	0													90	84	86					20																	57016116		2203	4300	6503	SO:0001583	missense	0			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.550C>T	20.37:g.57016116C>T	ENSP00000417175:p.Arg184Trp		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	p.R184W	ENST00000475243.1	37	c.550	CCDS33498.1	20	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047793	0.55110	.	.	ENSG00000124164	ENST00000475243	T	0.30981	1.51	5.38	4.44	0.53790	.	0.126361	0.56097	D	0.000036	T	0.37571	0.1008	M	0.85197	2.74	0.80722	D	1	B;B	0.26876	0.162;0.022	B;B	0.21917	0.037;0.01	T	0.35425	-0.9789	10	0.66056	D	0.02	-3.827	10.4645	0.44600	0.0:0.8513:0.0:0.1487	.	61;184	B4DNS4;O95292	.;VAPB_HUMAN	W	184	ENSP00000417175:R184W	ENSP00000417175:R184W	R	+	1	2	VAPB	56449522	1.000000	0.71417	0.767000	0.31495	0.999000	0.98932	2.908000	0.48750	1.275000	0.44379	0.650000	0.86243	CGG	VAPB	-	pirsf_Vesicle-associated_membrane	ENSG00000124164		0.428	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2		0	41	0	C			57016116	1			no_errors	ENST00000475243	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	T	T	57016116	C	T	57016116	3	4	80	1	0	0	0	0	1	0	0	0	17171	527	19	1	568	1	VAPB	20	57016116	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	26431149	57016116	6009404	248	21249											
CDH26	60437	genome.wustl.edu	37	chr20	58567452	58567452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatatgaactggttcatgacCcagcaaattgggtcagcgtc	11	10	11	9	1	2	2	2	2	0	0	3	3	2	2	1	2	3	2	1	2	3	3	rs373374352		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr20:58567452C>T	ENST00000244047.5	+	10	1614	c.1303C>T	c.(1303-1305)Cca>Tca	p.P435S	CDH26_ENST00000348616.4_Missense_Mutation_p.P435S			Q8IXH8	CAD26_HUMAN	cadherin 26	435	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGTTCATGACCCAGCAAATTG	0.353																																																	0													82	75	77					20																	58567452		2203	4300	6503	SO:0001583	missense	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"Cadherins / Major cadherins"	15902	protein-coding gene	gene with protein product			"cadherin-like 26"				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.1303C>T	20.37:g.58567452C>T	ENSP00000244047:p.Pro435Ser		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P435S	ENST00000244047.5	37	c.1303		20	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395418	0.42512	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.59772	0.24;0.24	5.15	3.17	0.36434	.	0.142426	0.46442	N	0.000285	T	0.69637	0.3133	M	0.62209	1.925	0.39292	D	0.964759	D	0.76494	0.999	D	0.78314	0.991	T	0.71276	-0.4641	10	0.87932	D	0	.	9.5438	0.39268	0.0:0.7764:0.1435:0.0801	.	435	Q8IXH8-4	.	S	435	ENSP00000244047:P435S;ENSP00000339390:P435S	ENSP00000244047:P435S	P	+	1	0	CDH26	58000847	0.894000	0.30519	0.001000	0.08648	0.211000	0.24417	3.092000	0.50207	0.522000	0.28464	0.650000	0.86243	CCA	CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.353	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		-	0	52	0	C	NM_177980		58567452	1	tier1	-	no_errors	ENST00000244047	ensembl	human	known	74_37	missense	14.19	126	21	SNP	0.774	T	T	58567452	C	T	58567452	3	4	80	1	0	0	0	0	1	0	0	0	3117	623	22	3	1341	3	CDH26	20	58567452	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1551336	58567452	4458068	249	21250											
DIDO1	11083	genome.wustl.edu	37	chr20	61511438	61511438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgcccctgggacctGgcataaagttaggcgcttgg	8	9	14	10	1	0	1	0	1	0	0	0	2	0	2	3	4	1	4	3	4	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr20:61511438G>A	ENST00000266070.4	-	16	6195	c.5870C>T	c.(5869-5871)cCa>cTa	p.P1957L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1957L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1957	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTGGGACCTGGCATAAAGTT	0.582																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													118	138	131					20																	61511438		2203	4299	6502	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5870C>T	20.37:g.61511438G>A	ENSP00000266070:p.Pro1957Leu		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.P1957L	ENST00000266070.4	37	c.5870	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072022	0.36566	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.10005	2.92;2.92	4.85	3.83	0.44106	.	0.172654	0.27705	N	0.018184	T	0.11110	0.0271	L	0.57536	1.79	0.24777	N	0.992837	P	0.38922	0.651	B	0.36030	0.216	T	0.14980	-1.0453	10	0.32370	T	0.25	-12.0382	10.0654	0.42299	0.0:0.1483:0.6984:0.1533	.	1957	Q9BTC0	DIDO1_HUMAN	L	1957	ENSP00000266070:P1957L;ENSP00000378752:P1957L	ENSP00000266070:P1957L	P	-	2	0	DIDO1	60981883	0.984000	0.35163	0.929000	0.37066	0.130000	0.20726	2.352000	0.44080	2.374000	0.81015	0.561000	0.74099	CCA	DIDO1	-	NULL	ENSG00000101191		0.582	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2		0	28	0	G	NM_080796		61511438	-1			no_errors	ENST00000266070	ensembl	human	known	74_37	missense	9.88	73	8	SNP	0.251	A	A	61511438	G	A	61511438	3	1	80	1	0	0	0	0	1	0	0	0	4536	1348	47	3	856	3	DIDO1	20	61511438	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	2943986	61511438	1514082	250	21251											
NCAM2	4685	genome.wustl.edu	37	chr21	22710769	22710769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaatggtcaagtcacacTcgtatgtgatgcggaagggg	11	9	15	6	2	2	2	2	2	0	1	3	4	2	3	0	4	1	1	0	4	4	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr21:22710769T>A	ENST00000400546.1	+	8	1208	c.959T>A	c.(958-960)cTc>cAc	p.L320H	NCAM2_ENST00000284894.7_Missense_Mutation_p.L178H|NCAM2_ENST00000535285.1_Missense_Mutation_p.L345H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	320	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CAAGTCACACTCGTATGTGAT	0.408																																																	0													68	66	66					21																	22710769		1894	4103	5997	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.959T>A	21.37:g.22710769T>A	ENSP00000383392:p.Leu320His		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.L320H	ENST00000400546.1	37	c.959	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	T	20.9	4.058697	0.76074	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.75477	0.4;0.4;-0.94	5.8	5.8	0.92144	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.051674	0.85682	D	0.000000	D	0.89553	0.6748	M	0.93678	3.445	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.991;0.991	D	0.92105	0.5691	10	0.87932	D	0	-13.818	14.9656	0.71188	0.0:0.0:0.0:1.0	.	345;178;320	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	H	320;178;345	ENSP00000383392:L320H;ENSP00000284894:L178H;ENSP00000441887:L345H	ENSP00000284894:L178H	L	+	2	0	NCAM2	21632640	0.945000	0.32115	0.922000	0.36590	0.571000	0.35966	4.144000	0.58057	2.209000	0.71365	0.482000	0.46254	CTC	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154654		0.408	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	39	0	T	NM_004540		22710769	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.988	A	A	22710769	T	A	22710769	3	1	80	1	0	0	0	0	1	0	0	0	10242	1551	54	5	989	5	NCAM2	21	22710769	Missense_Mutation	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09		22710769	25419126	251	21252											
PCNT	5116	genome.wustl.edu	37	chr21	47819581	47819581	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacagaaagagtcggcagaTagacaagtgttaatgcagga	17	7	12	5	1	0	4	0	0	0	4	1	5	0	5	0	2	2	3	0	2	5	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr21:47819581T>C	ENST00000359568.5	+	25	4769	c.4662T>C	c.(4660-4662)gaT>gaC	p.D1554D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1554					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTCGGCAGATAGACAAGTGT	0.373																																																	0													102	108	106					21																	47819581		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4662T>C	21.37:g.47819581T>C			O43152|Q7Z7C9	Silent	SNP	pfam_PACT_domain	p.D1554	ENST00000359568.5	37	c.4662	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.373	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	51	0	T	NM_006031		47819581	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	silent	87.10	4	27	SNP	0.682	C	C	47819581	T	C	47819581	2	2	80	1	0	0	0	0	0	0	0	1	11629	1403	49	4		4	PCNT	21	47819581	Silent	SNP	T	TCGA-L5-A8NF-01A-11D-A37C-09	25108812	47819581	310314	252	21253											
ASPHD2	57168	genome.wustl.edu	37	chr22	26829738	26829738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaccggcatccagtccGtgcgggactgcgacaccacc	7	5	11	18	5	0	0	0	0	0	0	3	2	2	1	6	2	2	1	6	2	0	0	rs140657637		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr22:26829738G>A	ENST00000215906.5	+	2	595	c.157G>A	c.(157-159)Gtg>Atg	p.V53M		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	53					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CATCCAGTCCGTGCGGGACTG	0.652																																																	0								G	MET/VAL	0,4406		0,0,2203	89	76	80		157	4.5	0.9	22	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASPHD2	NM_020437.4	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	53/370	26829738	1,13005	2203	4300	6503	SO:0001583	missense	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.157G>A	22.37:g.26829738G>A	ENSP00000215906:p.Val53Met		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	pfam_Asp_Arg_b-Hydrxlase	p.V53M	ENST00000215906.5	37	c.157	CCDS13834.2	22	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470387	0.43942	0.0	1.16E-4	ENSG00000128203	ENST00000215906	T	0.50277	0.75	4.46	4.46	0.54185	.	0.278592	0.29087	N	0.013184	T	0.30823	0.0777	N	0.19112	0.55	0.43047	D	0.994642	P	0.51933	0.949	B	0.38616	0.277	T	0.28004	-1.0057	10	0.66056	D	0.02	-25.9394	12.0258	0.53368	0.0:0.0:0.8151:0.1849	.	53	Q6ICH7	ASPH2_HUMAN	M	53	ENSP00000215906:V53M	ENSP00000215906:V53M	V	+	1	0	ASPHD2	25159738	0.993000	0.37304	0.934000	0.37439	0.978000	0.69477	2.257000	0.43240	2.311000	0.77944	0.563000	0.77884	GTG	ASPHD2	-	NULL	ENSG00000128203		0.652	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	-	0	36	0	G	NM_020437		26829738	1	tier1	rs140657637	no_errors	ENST00000215906	ensembl	human	known	74_37	missense	77.78	4	14	SNP	0.889	A	A	26829738	G	A	26829738	3	1	80	1	0	0	0	0	1	0	0	0	1056	1145	40	1	159	1	ASPHD2	22	26829738	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09		26829738	24474828	253	21254											
FBXO7	25793	genome.wustl.edu	37	chr22	32889257	32889257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggtttttatatctgcGtgattttcgaggtgatttcc	6	18	12	5	2	1	2	0	2	1	0	3	4	2	3	1	3	1	1	1	3	2	7	rs375751043		TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr22:32889257G>C	ENST00000266087.7	+	7	1460	c.1133G>C	c.(1132-1134)cGt>cCt	p.R378P	FBXO7_ENST00000382058.3_Missense_Mutation_p.R299P|FBXO7_ENST00000397426.1_Missense_Mutation_p.R264P	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	378			R -> G (in PARK15; no effect on interaction with PARK2; dbSNP:rs71799110). {ECO:0000269|PubMed:18513678}.		cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTATATCTGCGTGATTTTCGA	0.413																																																	0													140	125	130					22																	32889257		2203	4300	6503	SO:0001583	missense	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1133G>C	22.37:g.32889257G>C	ENSP00000266087:p.Arg378Pro		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R378P	ENST00000266087.7	37	c.1133	CCDS13907.1	22	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614534	0.87359	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.50548	0.74;0.74;0.74	6.08	6.08	0.98989	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.74112	-0.3770	10	0.72032	D	0.01	-20.4576	20.6634	0.99662	0.0:0.0:1.0:0.0	.	378;299;378	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	P	378;299;264	ENSP00000266087:R378P;ENSP00000371490:R299P;ENSP00000380571:R264P	ENSP00000266087:R378P	R	+	2	0	FBXO7	31219257	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.521000	0.81832	2.894000	0.99253	0.655000	0.94253	CGT	FBXO7	-	superfamily_F-box_dom	ENSG00000100225		0.413	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	-	0	56	0	G			32889257	1	tier1	-	no_errors	ENST00000266087	ensembl	human	known	74_37	missense	47.27	29	26	SNP	1.000	C	C	32889257	G	C	32889257	3	2	80	1	0	0	0	0	1	0	0	0	5782	1145	40	5	1200	5	FBXO7	22	32889257	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	6059519	32889257	18415309	254	21255											
GTPBP1	9567	genome.wustl.edu	37	chr22	39112748	39112748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatggccgaggctttgccCgccagaaactcttccgccac	9	7	9	16	3	1	1	0	0	1	1	2	2	2	1	5	2	2	1	5	2	2	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr22:39112748C>T	ENST00000216044.5	+	4	810	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	193	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R193C(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					AGGCTTTGCCCGCCAGAAACT	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											57	56	56					22																	39112748		2203	4300	6503	SO:0001583	missense	0			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.577C>T	22.37:g.39112748C>T	ENSP00000216044:p.Arg193Cys		Q6IC67	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel	p.R193C	ENST00000216044.5	37	c.577	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277245	0.80580	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.71341	-0.56;-0.56	5.25	4.22	0.49857	Protein synthesis factor, GTP-binding (1);	0.053428	0.85682	D	0.000000	D	0.88381	0.6421	H	0.97214	3.96	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.90553	0.4510	10	0.87932	D	0	.	10.8796	0.46931	0.1471:0.7113:0.1416:0.0	.	193	O00178	GTPB1_HUMAN	C	193;112	ENSP00000216044:R193C;ENSP00000442881:R112C	ENSP00000216044:R193C	R	+	1	0	GTPBP1	37442694	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.743000	0.62110	1.186000	0.42985	0.551000	0.68910	CGC	GTPBP1	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000100226		0.552	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	-	0	30	0	C	NM_004286		39112748	1	tier1	-	no_errors	ENST00000216044	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	T	T	39112748	C	T	39112748	3	4	80	1	0	0	0	0	1	0	0	0	6905	652	23	1	591	1	GTPBP1	22	39112748	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	6223491	39112748	12191818	255	21256											
CELSR1	9620	genome.wustl.edu	37	chr22	46785357	46785357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctgcagggccctggCgccgtccacctgcgtctcat	5	7	11	18	3	1	0	1	0	1	0	3	0	2	0	5	2	3	2	5	2	0	0			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chr22:46785357C>T	ENST00000262738.3	-	18	6384	c.6385G>A	c.(6385-6387)Gcc>Acc	p.A2129T		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2129					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGCCCTGGCGCCGTCCACC	0.637																																																	0													38	36	37					22																	46785357		2202	4300	6502	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6385G>A	22.37:g.46785357C>T	ENSP00000262738:p.Ala2129Thr		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.A2129T	ENST00000262738.3	37	c.6385	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	c	6.501	0.460592	0.12342	.	.	ENSG00000075275	ENST00000262738	T	0.09445	2.98	4.99	2.9	0.33743	Domain of unknown function DUF3497 (1);	0.640402	0.13667	N	0.371164	T	0.04679	0.0127	N	0.08118	0	0.80722	D	1	P;B	0.35628	0.513;0.067	B;B	0.26416	0.069;0.041	T	0.49943	-0.8885	10	0.21014	T	0.42	.	10.3152	0.43732	0.0:0.8356:0.0:0.1644	.	450;2129	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	T	2129	ENSP00000262738:A2129T	ENSP00000262738:A2129T	A	-	1	0	CELSR1	45164021	0.006000	0.16342	0.002000	0.10522	0.002000	0.02628	2.089000	0.41672	0.512000	0.28257	-0.119000	0.15052	GCC	CELSR1	-	pfam_DUF3497	ENSG00000075275		0.637	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0	42	0	C	NM_014246		46785357	-1			no_errors	ENST00000262738	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.224	T	T	46785357	C	T	46785357	3	4	80	1	0	0	0	0	1	0	0	0	3228	768	27	1	2731	1	CELSR1	22	46785357	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	7672609	46785357	4519209	256	21257											
MXRA5	25878	genome.wustl.edu	37	chrX	3238108	3238108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttgcctcacaggggAacacagtgtctgtctcagcg	7	11	11	12	1	3	0	2	0	2	0	5	1	4	1	2	2	3	1	2	2	1	2			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:3238108A>G	ENST00000217939.6	-	5	5772	c.5618T>C	c.(5617-5619)tTc>tCc	p.F1873S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1873	Ig-like C2-type 3.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTCACAGGGGAACACAGTGTC	0.463																																																	0													86	71	76					X																	3238108		2203	4300	6503	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5618T>C	X.37:g.3238108A>G	ENSP00000217939:p.Phe1873Ser		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F1873S	ENST00000217939.6	37	c.5618	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079286	0.55753	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.74737	-0.87	3.51	3.51	0.40186	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.721162	0.11336	U	0.574549	D	0.85911	0.5807	M	0.92691	3.335	0.25185	N	0.99018	D	0.53151	0.958	P	0.54174	0.744	T	0.76846	-0.2808	10	0.87932	D	0	.	11.8172	0.52218	1.0:0.0:0.0:0.0	.	1873	Q9NR99	MXRA5_HUMAN	S	1873	ENSP00000217939:F1873S	ENSP00000217939:F1873S	F	-	2	0	MXRA5	3248108	0.995000	0.38212	0.015000	0.15790	0.677000	0.39632	7.903000	0.87398	1.133000	0.42147	0.372000	0.22366	TTC	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000101825		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	44	0	A	NM_015419		3238108	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	42.86	28	21	SNP	0.746	G	G	3238108	A	G	3238108	3	3	80	1	0	0	0	0	1	0	0	0	10041	246	9	4	2880	4	MXRA5	23	3238108	Missense_Mutation	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09		3238108	152032452	257	21258											
MXRA5	25878	genome.wustl.edu	37	chrX	3240440	3240440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatacccagtgtggagtcagGcaaagtgatggatttgctct	10	12	12	7	0	2	1	1	1	1	0	2	3	2	3	1	3	2	2	1	3	3	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:3240440G>A	ENST00000217939.6	-	5	3440	c.3286C>T	c.(3286-3288)Cct>Tct	p.P1096S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1096						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTGGAGTCAGGCAAAGTGATG	0.498																																																	0													131	104	113					X																	3240440		2203	4300	6503	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3286C>T	X.37:g.3240440G>A	ENSP00000217939:p.Pro1096Ser		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P1096S	ENST00000217939.6	37	c.3286	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.726600	0.00694	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60548	0.18	2.62	-0.181	0.13291	.	2.087410	0.03023	U	0.151026	T	0.32255	0.0823	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.13019	-1.0525	10	0.12103	T	0.63	.	3.3082	0.07007	0.2016:0.0:0.374:0.4244	.	1096	Q9NR99	MXRA5_HUMAN	S	1096	ENSP00000217939:P1096S	ENSP00000217939:P1096S	P	-	1	0	MXRA5	3250440	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.085000	0.11250	0.099000	0.17552	0.519000	0.50382	CCT	MXRA5	-	NULL	ENSG00000101825		0.498	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2		0	39	0	G	NM_015419		3240440	-1			no_errors	ENST00000217939	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	A	A	3240440	G	A	3240440	3	1	80	1	0	0	0	0	1	0	0	0	10041	1203	42	3	5212	3	MXRA5	23	3240440	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	2332	3240440	152030120	258	21259											
UBA1	7317	genome.wustl.edu	37	chrX	47065781	47065781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagccaggacccacctGagaagtccatccccatctgt	9	8	8	16	0	1	1	0	1	1	1	4	3	4	2	7	1	1	1	7	1	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:47065781G>T	ENST00000335972.6	+	16	2059	c.1876G>T	c.(1876-1878)Gag>Tag	p.E626*	UBA1_ENST00000377269.3_5'Flank|UBA1_ENST00000490869.1_3'UTR|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Nonsense_Mutation_p.E626*	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	626					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGACCCACCTGAGAAGTCCAT	0.567																																																	0													95	68	77					X																	47065781		2203	4300	6503	SO:0001587	stop_gained	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1876G>T	X.37:g.47065781G>T	ENSP00000338413:p.Glu626*		Q5JRR8|Q96E13	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.E626*	ENST00000335972.6	37	c.1876	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	G	41	8.561869	0.98863	.	.	ENSG00000130985	ENST00000377351;ENST00000335972	.	.	.	4.92	4.92	0.64577	.	0.155201	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.8312	14.3678	0.66817	0.0:0.0:1.0:0.0	.	.	.	.	X	626	.	ENSP00000338413:E626X	E	+	1	0	UBA1	46950725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.597000	0.82733	2.173000	0.68751	0.597000	0.82753	GAG	UBA1	-	pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.567	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1		0	15	0	G	NM_003334		47065781	1			no_errors	ENST00000335972	ensembl	human	known	74_37	nonsense	18.75	13	3	SNP	1.000	T	T	47065781	G	T	47065781	4	4	80	1	0	0	0	0	0	1	0	0	16876	1291	45	3	1934	3	UBA1	23	47065781	Nonsense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	43825341	47065781	108204779	259	21260											
CACNA1F	778	genome.wustl.edu	37	chrX	49063212	49063212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtggggggcagcagaCggcggcgtggtaccaggtgc	6	5	21	9	3	0	1	0	0	0	1	0	1	0	1	1	8	3	3	1	8	1	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:49063212C>T	ENST00000376265.2	-	45	5430	c.5369G>A	c.(5368-5370)cGt>cAt	p.R1790H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1779H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1725H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1790					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1790H(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCAGCAGACGGCGGCGTGG	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)											45	45	45					X																	49063212		2203	4300	6503	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1393	protein-coding gene	gene with protein product		300110	"Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5369G>A	X.37:g.49063212C>T	ENSP00000365441:p.Arg1790His		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1790H	ENST00000376265.2	37	c.5369	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045488	0.75846	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.61392	0.11;0.11;0.11	5.6	5.6	0.85130	.	0.767914	0.12415	N	0.470940	T	0.74230	0.3689	M	0.69358	2.11	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.66709	-0.5855	10	0.25106	T	0.35	.	15.8861	0.79251	0.0:1.0:0.0:0.0	.	1779;1790	F5CIQ9;O60840	.;CAC1F_HUMAN	H	1725;1779;1790	ENSP00000365427:R1725H;ENSP00000321618:R1779H;ENSP00000365441:R1790H	ENSP00000321618:R1779H	R	-	2	0	CACNA1F	48950156	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.949000	0.56668	2.350000	0.79820	0.529000	0.55759	CGT	CACNA1F	-	NULL	ENSG00000102001		0.612	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0	46	0	C	NM_005183		49063212	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	49063212	C	T	49063212	3	4	80	1	0	0	0	0	1	0	0	0	2550	536	19	1	580	1	CACNA1F	23	49063212	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	1997431	49063212	106207348	260	21261											
FAM123B	139285	genome.wustl.edu	37	chrX	63410680	63410680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagatcttcatcattGtggaactcaggattctcttc	9	14	8	10	0	5	1	3	0	2	1	7	3	5	3	0	2	2	2	0	2	2	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:63410680G>T	ENST00000330258.3	-	2	2759	c.2487C>A	c.(2485-2487)caC>caA	p.H829Q	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	829					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTTCATCATTGTGGAACTCAG	0.502																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											41	41	41					X																	63410680		2199	4291	6490	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"-"	26837	protein-coding gene	gene with protein product	"Wilms Tumor on the X", "adenomatous polyposis coli membrane recruitment 1"	300647	"family with sequence similarity 123B"	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2487C>A	X.37:g.63410680G>T	ENSP00000329117:p.His829Gln		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.H829Q	ENST00000330258.3	37	c.2487	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341193	0.24339	.	.	ENSG00000184675	ENST00000330258	T	0.41758	0.99	5.0	3.21	0.36854	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.80722	D	1	B	0.14805	0.011	B	0.08055	0.003	T	0.05194	-1.0900	8	.	.	.	-0.9713	6.1498	0.20306	0.1782:0.1547:0.6671:0.0	.	829	Q5JTC6	F123B_HUMAN	Q	829	ENSP00000329117:H829Q	.	H	-	3	2	FAM123B	63327405	0.987000	0.35691	1.000000	0.80357	0.971000	0.66376	0.114000	0.15520	0.615000	0.30124	0.529000	0.55759	CAC	AMER1	-	NULL	ENSG00000184675		0.502	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER1	HGNC	protein_coding	OTTHUMT00000316584.1	-	0	28	0	G	NM_152424		63410680	-1	tier1	-	no_errors	ENST00000330258	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	63410680	G	T	63410680	3	4	80	1	0	0	0	0	1	0	0	0	5442	1368	48	3	924	3	FAM123B	23	63410680	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	14347468	63410680	91859880	261	21262											
NXF2	728343	genome.wustl.edu	37	chrX	101623934	101623934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcatcataaatcttataActgacatccttcaatgcgga	14	13	4	10	1	5	1	4	1	1	0	6	2	6	2	1	1	2	0	1	1	5	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:101623934A>G	ENST00000372750.1	-	11	1342	c.543T>C	c.(541-543)agT>agC	p.S181S	NXF2B_ENST00000412230.2_Silent_p.S181S|NXF2B_ENST00000457521.2_Silent_p.S181S|NXF2B_ENST00000372749.1_Silent_p.S181S|NXF2B_ENST00000372752.1_Silent_p.S93S			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	181	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						AAATCTTATAACTGACATCCT	0.532																																																	0													6	5	5					X																	101623934		1864	3734	5598	SO:0001819	synonymous_variant	0				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.543T>C	X.37:g.101623934A>G			Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.S181	ENST00000372750.1	37	c.543	CCDS43979.1	X																																																																																			NXF2B	-	pfam_Tap_RNA-bd	ENSG00000185945		0.532	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	HGNC	protein_coding	OTTHUMT00000058979.1	-	0	12	0	A			101623934	-1	tier1	-	no_errors	ENST00000372749	ensembl	human	known	74_37	silent	37.50	5	3	SNP	0.000	G	G	101623934	A	G	101623934	2	3	80	1	0	0	0	0	0	0	0	1	10822	40	2	4		4	NXF2	23	101623934	Silent	SNP	A	TCGA-L5-A8NF-01A-11D-A37C-09	38213254	101623934	53646626	262	21263											
TEX13A	56157	genome.wustl.edu	37	chrX	104463918	104463918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgtgactgttgcttgtgGaggggatatagtgggtatgt	6	15	17	3	0	0	1	0	1	0	0	0	3	0	3	0	4	2	4	0	4	3	5			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:104463918G>A	ENST00000413579.1	-	5	1069	c.958C>T	c.(958-960)Cca>Tca	p.P320S	TEX13A_ENST00000372578.3_Silent_p.L320L|TEX13A_ENST00000372575.1_Silent_p.L320L|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	320							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GTTGCTTGTGGAGGGGATATA	0.537																																																	0													104	101	102					X																	104463918		2179	4280	6459	SO:0001583	missense	0			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"testis expressed sequence 13A"			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.958C>T	X.37:g.104463918G>A	ENSP00000399753:p.Pro320Ser		B1B1G8|Q32NB6	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfscan_Znf_RanBP2	p.P320S	ENST00000413579.1	37	c.958		X	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399521	0.25291	.	.	ENSG00000133149	ENST00000413579	.	.	.	3.08	2.17	0.27698	.	.	.	.	.	T	0.26810	0.0656	L	0.28115	0.83	0.09310	N	1	D	0.54964	0.969	P	0.47075	0.536	T	0.08066	-1.0740	8	0.21014	T	0.42	.	7.1693	0.25708	0.0:0.2734:0.7266:0.0	.	320	Q9BXU3	TX13A_HUMAN	S	320	.	ENSP00000399753:P320S	P	-	1	0	TEX13A	104350574	0.038000	0.19896	0.009000	0.14445	0.023000	0.10783	0.681000	0.25320	0.664000	0.31047	0.436000	0.28706	CCA	TEX13A	-	NULL	ENSG00000133149		0.537	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	TEX13A	HGNC	protein_coding		-	0	24	0	G	NM_031274		104463918	-1	tier1	-	no_errors	ENST00000413579	ensembl	human	known	74_37	missense	79.17	5	19	SNP	0.008	A	A	104463918	G	A	104463918	3	1	80	1	0	0	0	0	1	0	0	0	15823	1161	41	3	275	3	TEX13A	23	104463918	Missense_Mutation	SNP	G	TCGA-L5-A8NF-01A-11D-A37C-09	2839984	104463918	50806642	263	21264											
PRPS1	5631	genome.wustl.edu	37	chrX	106885630	106885630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtagacaatttgtatgCagagccggctgtcctaaagt	11	10	10	10	1	0	2	0	0	0	2	1	2	1	2	3	1	2	4	3	1	5	4			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:106885630C>T	ENST00000372435.4	+	4	562	c.440C>T	c.(439-441)gCa>gTa	p.A147V	PRPS1_ENST00000543248.1_Missense_Mutation_p.A147V|PRPS1_ENST00000372428.4_Missense_Mutation_p.A80V|PRPS1_ENST00000372418.1_Missense_Mutation_p.A47V	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	147					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						AATTTGTATGCAGAGCCGGCT	0.433																																																	0													117	103	107					X																	106885630		2203	4300	6503	SO:0001583	missense	0			X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"PRS I", "ribose-phosphate diphosphokinase 1"	311850	"deafness, X-linked 2, perceptive, congenital"	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.440C>T	X.37:g.106885630C>T	ENSP00000361512:p.Ala147Val		B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.A147V	ENST00000372435.4	37	c.440	CCDS14529.1	X	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583538	0.65992	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.89	4.51	4.51	0.55191	.	0.052323	0.85682	N	0.000000	D	0.92854	0.7727	M	0.91140	3.18	0.80722	D	1	P;P	0.34562	0.457;0.457	B;B	0.27380	0.079;0.079	D	0.94042	0.7310	10	0.87932	D	0	.	16.0202	0.80478	0.0:1.0:0.0:0.0	.	147;147	Q53FW2;P60891	.;PRPS1_HUMAN	V	147;80;147;47	ENSP00000361512:A147V;ENSP00000361505:A80V;ENSP00000443185:A147V;ENSP00000361495:A47V	ENSP00000361495:A47V	A	+	2	0	PRPS1	106772286	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.395000	0.79876	2.174000	0.68829	0.544000	0.68410	GCA	PRPS1	-	tigrfam_Rib-P_diPkinase	ENSG00000147224		0.433	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPS1	HGNC	protein_coding	OTTHUMT00000057840.1	-	0	34	0	C			106885630	1	tier1	-	no_errors	ENST00000372435	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	106885630	C	T	106885630	3	4	80	1	0	0	0	0	1	0	0	0	12620	710	25	3	454	3	PRPS1	23	106885630	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2421712	106885630	48384930	264	21265											
USP26	83844	genome.wustl.edu	37	chrX	132160963	132160963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taatgacagggcaagaaaacCcactggtgtcaggatcatca	15	7	10	9	0	3	2	3	1	0	1	3	3	3	3	1	3	1	1	1	3	4	1			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:132160963C>A	ENST00000511190.1	-	6	1755	c.1286G>T	c.(1285-1287)gGg>gTg	p.G429V	USP26_ENST00000406273.1_Missense_Mutation_p.G429V|USP26_ENST00000370832.1_Missense_Mutation_p.G429V	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	429	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCAAGAAAACCCACTGGTGTC	0.373																																					NSCLC(104;342 1621 36940 47097 52632)												0													84	79	80					X																	132160963		2203	4300	6503	SO:0001583	missense	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"Ubiquitin-specific peptidases"	13485	protein-coding gene	gene with protein product		300309	"ubiquitin specific protease 26"			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1286G>T	X.37:g.132160963C>A	ENSP00000423390:p.Gly429Val		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G429V	ENST00000511190.1	37	c.1286	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.181718	0.00308	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.30182	1.54;1.54;1.54	3.62	-6.51	0.01878	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.343600	0.02256	N	0.067145	T	0.08935	0.0221	N	0.02539	-0.55	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.18903	-1.0322	10	0.07644	T	0.81	2.7813	2.1252	0.03737	0.3098:0.3904:0.1773:0.1225	.	429	Q9BXU7	UBP26_HUMAN	V	429	ENSP00000359869:G429V;ENSP00000423390:G429V;ENSP00000384360:G429V	ENSP00000359869:G429V	G	-	2	0	USP26	131988629	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.083000	0.11286	-1.566000	0.01673	-1.235000	0.01560	GGG	USP26	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000134588		0.373	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	-	0	39	0	C	NM_031907		132160963	-1	tier1	-	no_errors	ENST00000370832	ensembl	human	known	74_37	missense	78.12	7	25	SNP	0.000	A	A	132160963	C	A	132160963	3	1	80	1	0	0	0	0	1	0	0	0	17106	623	22	3	1458	3	USP26	23	132160963	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	25275333	132160963	23109597	265	21266											
SAGE1	55511	genome.wustl.edu	37	chrX	134987423	134987423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccagatgctaccatcgCtcacaatatccgtgaagaga	12	10	8	11	2	1	3	1	1	0	2	4	4	3	3	3	0	2	3	3	0	4	3			TCGA-L5-A8NF-01A-11D-A37C-09	TCGA-L5-A8NF-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	344221f6-4b8a-46e4-885b-b2e2205529f2	6c3798fb-7b20-4c5c-9d02-492c8d972ec2	g.chrX:134987423C>G	ENST00000370709.3	+	4	326	c.326C>G	c.(325-327)gCt>gGt	p.A109G	SAGE1_ENST00000537770.1_Missense_Mutation_p.A109G|SAGE1_ENST00000324447.3_Missense_Mutation_p.A109G|SAGE1_ENST00000535938.1_Missense_Mutation_p.A109G			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	109						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GCTACCATCGCTCACAATATC	0.463																																																	0													158	107	124					X																	134987423		2203	4300	6503	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.326C>G	X.37:g.134987423C>G	ENSP00000359743:p.Ala109Gly		Q5JNW0	Missense_Mutation	SNP	NULL	p.A109G	ENST00000370709.3	37	c.326	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	C	5.242	0.230096	0.09969	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.35605	1.3;1.3;1.49;1.3	1.32	-1.54	0.08584	.	0.159392	0.39834	U	0.001246	T	0.18045	0.0433	N	0.14661	0.345	0.09310	N	1	B;B	0.31705	0.336;0.0	B;B	0.35278	0.199;0.002	T	0.12604	-1.0541	10	0.72032	D	0.01	.	4.3785	0.11283	0.0:0.4439:0.0:0.5561	.	109;109	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	G	109	ENSP00000323191:A109G;ENSP00000445959:A109G;ENSP00000438276:A109G;ENSP00000359743:A109G	ENSP00000323191:A109G	A	+	2	0	SAGE1	134815089	0.003000	0.15002	0.004000	0.12327	0.006000	0.05464	-0.166000	0.09954	-0.604000	0.05760	0.284000	0.19432	GCT	SAGE1	-	NULL	ENSG00000181433		0.463	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	-	0	21	0	C	NM_018666		134987423	1	tier1	-	no_errors	ENST00000324447	ensembl	human	known	74_37	missense	61.54	10	16	SNP	0.004	G	G	134987423	C	G	134987423	3	3	80	1	0	0	0	0	1	0	0	0	13854	797	28	5	340	5	SAGE1	23	134987423	Missense_Mutation	SNP	C	TCGA-L5-A8NF-01A-11D-A37C-09	2826460	134987423	20283137	266	21267											
CAMTA1	23261	genome.wustl.edu	37	chr1	7724522	7724522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcagcctgagtgactctGggggcaccttcgtgatgccc	7	8	13	13	1	1	3	0	3	1	0	2	3	1	3	3	2	3	2	3	2	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:7724522G>A	ENST00000303635.7	+	9	2122	c.1915G>A	c.(1915-1917)Ggg>Agg	p.G639R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G639R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAGTGACTCTGGGGGCACCTT	0.647			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													109	123	118					1																	7724522		2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1915G>A	1.37:g.7724522G>A	ENSP00000306522:p.Gly639Arg		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G639R	ENST00000303635.7	37	c.1915	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	11.70	1.718080	0.30503	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.22134	1.97;1.97	5.12	5.12	0.69794	.	0.710435	0.13736	N	0.366306	T	0.16128	0.0388	L	0.29908	0.895	0.35783	D	0.821813	B	0.06786	0.001	B	0.06405	0.002	T	0.09058	-1.0692	10	0.51188	T	0.08	-21.0746	8.8703	0.35311	0.2111:0.0:0.7889:0.0	.	639	Q9Y6Y1	CMTA1_HUMAN	R	639	ENSP00000306522:G639R;ENSP00000402561:G639R	ENSP00000306522:G639R	G	+	1	0	CAMTA1	7647109	0.997000	0.39634	0.987000	0.45799	0.993000	0.82548	2.605000	0.46283	2.408000	0.81797	0.498000	0.49722	GGG	CAMTA1	-	NULL	ENSG00000171735		0.647	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0	93	0	G	NM_015215		7724522	1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.965	A	A	7724522	G	A	7724522	3	1	81	1	0	0	0	0	1	0	0	0	2620	1348	47	3	1949	3	CAMTA1	1	7724522	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		7724522	241526099	1	21268											
RERE	473	genome.wustl.edu	37	chr1	8557522	8557522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactccaggcatccagaccAgttcctcatgttgggtcact	9	11	8	13	0	2	1	2	0	0	1	5	1	5	1	4	2	1	3	4	2	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:8557522A>T	ENST00000337907.3	-	10	1581	c.947T>A	c.(946-948)cTg>cAg	p.L316Q	RERE_ENST00000400907.2_Missense_Mutation_p.L316Q|RERE_ENST00000400908.2_Missense_Mutation_p.L316Q|RERE_ENST00000377464.1_Missense_Mutation_p.L48Q	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	316	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CATCCAGACCAGTTCCTCATG	0.468																																																	0													198	167	178					1																	8557522		2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.947T>A	1.37:g.8557522A>T	ENSP00000338629:p.Leu316Gln		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.L316Q	ENST00000337907.3	37	c.947	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692647	0.68271	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.84	5.84	0.93424	ELM2 domain (2);	.	.	.	.	T	0.60843	0.2300	L	0.58101	1.795	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.77557	0.977;0.99	T	0.61187	-0.7113	9	0.51188	T	0.08	-12.4752	15.0348	0.71738	1.0:0.0:0.0:0.0	.	48;316	B1AKN3;Q9P2R6	.;RERE_HUMAN	Q	316;48;316;316	ENSP00000338629:L316Q;ENSP00000366684:L48Q;ENSP00000383699:L316Q;ENSP00000383700:L316Q	ENSP00000338629:L316Q	L	-	2	0	RERE	8480109	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.962000	0.76048	2.232000	0.73038	0.533000	0.62120	CTG	RERE	-	pfam_ELM2_dom,pfscan_ELM2_dom	ENSG00000142599		0.468	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1		0	60	0	A			8557522	-1			no_errors	ENST00000337907	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	8557522	A	T	8557522	3	4	81	1	0	0	0	0	1	0	0	0	13276	188	7	5	3813	5	RERE	1	8557522	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	833000	8557522	240693099	2	21269											
KIF1B	23095	genome.wustl.edu	37	chr1	10421049	10421049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcccttcttctgaaccGagtgacaccctatggagaaa	12	10	7	12	1	2	3	0	2	2	1	3	5	3	3	3	1	2	0	3	1	4	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:10421049G>T	ENST00000377086.1	+	39	4320	c.4118G>T	c.(4117-4119)cGa>cTa	p.R1373L	KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.R1327L|KIF1B_ENST00000377081.1_Missense_Mutation_p.R1373L			O60333	KIF1B_HUMAN	kinesin family member 1B	1373					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTCTGAACCGAGTGACACCC	0.483																																																	0													216	177	190					1																	10421049		2203	4300	6503	SO:0001583	missense	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4118G>T	1.37:g.10421049G>T	ENSP00000366290:p.Arg1373Leu		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1327L	ENST00000377086.1	37	c.3980		1	.	.	.	.	.	.	.	.	.	.	G	36	5.746051	0.96882	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	D;D;D	0.82433	-1.5;-1.61;-1.61	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	M	0.90198	3.095	0.80722	D	1	D;D;P;D;P;P	0.89917	0.99;1.0;0.948;0.999;0.922;0.949	P;D;P;D;P;P	0.91635	0.898;0.999;0.767;0.987;0.605;0.451	D	0.93748	0.7056	10	0.66056	D	0.02	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	1359;1333;1373;1347;1373;1327	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1373;1327;1373;1373	ENSP00000263934:R1327L;ENSP00000366290:R1373L;ENSP00000366284:R1373L	ENSP00000263934:R1327L	R	+	2	0	KIF1B	10343636	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.712000	0.92718	0.561000	0.74099	CGA	KIF1B	-	pfam_Kinesin-like	ENSG00000054523		0.483	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1		0	58	0	G			10421049	1			no_errors	ENST00000263934	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	10421049	G	T	10421049	3	4	81	1	0	0	0	0	1	0	0	0	8311	1058	37	2	5611	2	KIF1B	1	10421049	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	1863527	10421049	238829572	3	21270											
MAP3K6	9064	genome.wustl.edu	37	chr1	27682974	27682974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtactcccgttccttccccGccaggatttcgcgcagcctg	4	10	10	17	4	0	0	0	0	0	0	4	1	3	1	6	2	2	3	6	2	1	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:27682974G>A	ENST00000493901.1	-	27	3781	c.3542C>T	c.(3541-3543)gCg>gTg	p.A1181V	MAP3K6_ENST00000374040.3_Missense_Mutation_p.A1173V|MAP3K6_ENST00000357582.2_Missense_Mutation_p.A1181V	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1181					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCTTCCCCGCCAGGATTTC	0.632																																																	0													31	35	34					1																	27682974		2203	4300	6503	SO:0001583	missense	0			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3542C>T	1.37:g.27682974G>A	ENSP00000419591:p.Ala1181Val		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A1181V	ENST00000493901.1	37	c.3542	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	G	3.869	-0.028381	0.07589	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000374036;ENST00000357582	T;T;T	0.62105	0.05;0.06;0.06	5.45	0.308	0.15815	.	.	.	.	.	T	0.36690	0.0976	N	0.13299	0.325	0.09310	N	0.999999	B;B	0.13145	0.007;0.004	B;B	0.06405	0.002;0.001	T	0.16070	-1.0415	8	.	.	.	.	3.7513	0.08568	0.4249:0.0:0.4083:0.1668	.	1173;1181	O95382-3;O95382	.;M3K6_HUMAN	V	1173;1181;19;1181	ENSP00000363152:A1173V;ENSP00000419591:A1181V;ENSP00000350195:A1181V	.	A	-	2	0	MAP3K6	27555561	0.066000	0.20996	0.155000	0.22561	0.014000	0.08584	0.273000	0.18662	0.010000	0.14839	0.655000	0.94253	GCG	MAP3K6	-	NULL	ENSG00000142733		0.632	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	-	0	106	0	G	NM_004672		27682974	-1	tier1	-	no_errors	ENST00000357582	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.130	A	A	27682974	G	A	27682974	3	1	81	1	0	0	0	0	1	0	0	0	9292	1087	38	1	340	1	MAP3K6	1	27682974	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	17261925	27682974	221567647	4	21271											
CSMD2	114784	genome.wustl.edu	37	chr1	34076780	34076780	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatgcggctggtctcataGgggccattccggatttctat	7	13	11	10	2	3	0	2	0	2	0	5	1	4	1	2	5	1	1	2	5	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:34076780G>T	ENST00000373380.1	-	20	3043	c.2823C>A	c.(2821-2823)ccC>ccA	p.P941P	CSMD2_ENST00000373377.1_Silent_p.P167P|CSMD2_ENST00000373381.4_Silent_p.P2068P|CSMD2_ENST00000373388.2_Silent_p.P167P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2028	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGTCTCATAGGGGCCATTCC	0.572																																																	0													115	111	112					1																	34076780		2203	4300	6503	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2823C>A	1.37:g.34076780G>T			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P2068	ENST00000373380.1	37	c.6204		1																																																																																			CSMD2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000121904		0.572	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4		0	36	0	G	NM_052896		34076780	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.108	T	T	34076780	G	T	34076780	2	4	81	1	0	0	0	0	0	0	0	1	3954	987	35	3		3	CSMD2	1	34076780	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	6393806	34076780	215173841	5	21272											
PLK3	1263	genome.wustl.edu	37	chr1	45269609	45269609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaaccctccaggctccaGcagcttctggcccagcccct	6	6	8	21	0	1	0	0	0	1	0	3	0	3	0	7	2	4	3	7	2	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:45269609G>T	ENST00000372201.4	+	10	1410	c.1171G>T	c.(1171-1173)Gca>Tca	p.A391S	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	391					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCAGGCTCCAGCAGCTTCTGG	0.642																																																	0													15	14	15					1																	45269609		2115	4147	6262	SO:0001583	missense	0			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1171G>T	1.37:g.45269609G>T	ENSP00000361275:p.Ala391Ser		Q15767|Q5JR99|Q96CV1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.A391S	ENST00000372201.4	37	c.1171	CCDS515.1	1	.	.	.	.	.	.	.	.	.	.	G	8.213	0.800739	0.16397	.	.	ENSG00000173846	ENST00000372201;ENST00000543983	T	0.66638	-0.22	4.7	3.74	0.42951	.	.	.	.	.	T	0.49047	0.1534	N	0.22421	0.69	0.22989	N	0.998463	B	0.19200	0.034	B	0.20184	0.028	T	0.19582	-1.0301	9	0.08381	T	0.77	-1.5638	11.8433	0.52368	0.0:0.0:0.8267:0.1733	.	391	Q9H4B4	PLK3_HUMAN	S	391;366	ENSP00000361275:A391S	ENSP00000361275:A391S	A	+	1	0	PLK3	45042196	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	3.209000	0.51122	2.444000	0.82710	0.591000	0.81541	GCA	PLK3	-	NULL	ENSG00000173846		0.642	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	-	0	35	0	G	NM_004073		45269609	1	tier1	-	no_errors	ENST00000372201	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.990	T	T	45269609	G	T	45269609	3	4	81	1	0	0	0	0	1	0	0	0	12136	971	34	3	1209	3	PLK3	1	45269609	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	11192829	45269609	203981012	6	21273											
INADL	10207	genome.wustl.edu	37	chr1	62349918	62349918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcttcaggcatgatccCgaatgatgtccaaggtccta	9	12	9	11	1	2	2	1	2	1	0	5	3	5	2	3	2	1	2	3	2	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:62349918C>T	ENST00000371158.2	+	22	3083	c.2969C>T	c.(2968-2970)cCg>cTg	p.P990L	INADL_ENST00000316485.6_Missense_Mutation_p.P990L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	990					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.P990Q(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGCATGATCCCGAATGATGTC	0.468																																																	1	Substitution - Missense(1)	lung(1)											165	152	156					1																	62349918		2203	4300	6503	SO:0001583	missense	0			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2969C>T	1.37:g.62349918C>T	ENSP00000360200:p.Pro990Leu		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.P990L	ENST00000371158.2	37	c.2969	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	C	8.779	0.927732	0.18056	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12879	2.79;2.64	5.13	2.25	0.28309	.	0.566616	0.17879	N	0.158914	T	0.12475	0.0303	M	0.68317	2.08	0.09310	N	0.999999	P;B;D	0.53312	0.809;0.071;0.959	B;B;B	0.42771	0.169;0.01;0.397	T	0.14727	-1.0462	10	0.08381	T	0.77	.	5.8899	0.18904	0.0:0.6747:0.154:0.1714	.	990;990;990	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	L	990	ENSP00000360200:P990L;ENSP00000326199:P990L	ENSP00000255202:P990L	P	+	2	0	INADL	62122506	0.010000	0.17322	0.060000	0.19600	0.006000	0.05464	0.731000	0.26058	0.322000	0.23283	-1.808000	0.00615	CCG	INADL	-	NULL	ENSG00000132849		0.468	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	-	0	68	0	C	NM_170605		62349918	1	tier1	-	no_errors	ENST00000371158	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.026	T	T	62349918	C	T	62349918	3	4	81	1	0	0	0	0	1	0	0	0	7758	652	23	1	3051	1	INADL	1	62349918	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	17080309	62349918	186900703	7	21274											
NEGR1	257194	genome.wustl.edu	37	chr1	72163744	72163744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgacacatcattttccGcactgcattcatattcccca	11	12	5	13	1	2	1	2	1	0	0	4	2	4	2	3	1	1	2	3	1	2	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:72163744G>A	ENST00000357731.5	-	4	853	c.614C>T	c.(613-615)gCg>gTg	p.A205V	NEGR1_ENST00000434200.1_Intron|NEGR1_ENST00000306821.3_Missense_Mutation_p.A77V|NEGR1_ENST00000467479.1_5'UTR	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	205	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ATCATTTTCCGCACTGCATTC	0.353																																																	0													125	117	120					1																	72163744		2202	4300	6502	SO:0001583	missense	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.614C>T	1.37:g.72163744G>A	ENSP00000350364:p.Ala205Val		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A205V	ENST00000357731.5	37	c.614	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.069308	0.93950	.	.	ENSG00000172260	ENST00000357731;ENST00000306821	T;T	0.72505	-0.66;-0.66	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86530	0.1821	10	0.87932	D	0	-12.3259	19.1653	0.93555	0.0:0.0:1.0:0.0	.	205	Q7Z3B1	NEGR1_HUMAN	V	205;77	ENSP00000350364:A205V;ENSP00000305938:A77V	ENSP00000305938:A77V	A	-	2	0	NEGR1	71936332	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.666000	0.91149	2.632000	0.89209	0.591000	0.81541	GCG	NEGR1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000172260		0.353	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	-	0	103	0	G	NM_173808		72163744	-1	tier1	-	no_errors	ENST00000357731	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	A	A	72163744	G	A	72163744	3	1	81	1	0	0	0	0	1	0	0	0	10356	1087	38	1	466	1	NEGR1	1	72163744	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	9813826	72163744	177086877	8	21275											
C1orf173	127254	genome.wustl.edu	37	chr1	75102058	75102058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttctactgcaggattactgGgaagaggctgtaatcgaatt	11	13	11	6	1	1	1	0	0	1	1	2	4	1	3	0	3	3	3	0	3	5	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:75102058G>A	ENST00000326665.5	-	6	727	c.509C>T	c.(508-510)cCc>cTc	p.P170L	C1orf173_ENST00000420661.2_5'Flank	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		170										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGGATTACTGGGAAGAGGCTG	0.418																																																	0													219	229	225					1																	75102058		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.509C>T	1.37:g.75102058G>A	ENSP00000322609:p.Pro170Leu		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.P170L	ENST00000326665.5	37	c.509	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	7.753	0.703809	0.15172	.	.	ENSG00000178965	ENST00000326665	T	0.11712	2.75	5.65	0.899	0.19271	.	.	.	.	.	T	0.01421	0.0046	N	0.16478	0.41	0.32619	N	0.52358	B	0.20887	0.049	B	0.20184	0.028	T	0.46512	-0.9186	9	0.10902	T	0.67	0.0859	3.2997	0.06979	0.3243:0.0:0.298:0.3777	.	170	Q5RHP9	CA173_HUMAN	L	170	ENSP00000322609:P170L	ENSP00000322609:P170L	P	-	2	0	C1orf173	74874646	0.981000	0.34729	0.990000	0.47175	0.222000	0.24845	0.948000	0.29096	0.730000	0.32425	-0.259000	0.10710	CCC	C1orf173	-	NULL	ENSG00000178965		0.418	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	107	0	G			75102058	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.568	A	A	75102058	G	A	75102058	3	1	81	1	0	0	0	0	1	0	0	0	2021	1232	43	3	4119	3	C1orf173	1	75102058	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2938314	75102058	174148563	9	21276											
AGL	178	genome.wustl.edu	37	chr1	100335979	100335979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctaatagtaaatggatccagGaacatccagaatgtgcctat	15	10	8	8	0	0	1	0	0	0	1	2	3	2	3	3	2	2	1	3	2	7	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:100335979G>A	ENST00000294724.4	+	6	1166	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	AGL_ENST00000370165.3_Missense_Mutation_p.E230K|AGL_ENST00000361522.4_Missense_Mutation_p.E213K|AGL_ENST00000370163.3_Missense_Mutation_p.E230K|AGL_ENST00000361302.3_Missense_Mutation_p.E214K|AGL_ENST00000361915.3_Missense_Mutation_p.E230K|AGL_ENST00000370161.2_Missense_Mutation_p.E214K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	230					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATGGATCCAGGAACATCCAGA	0.388																																																	0													85	84	84					1																	100335979		2203	4300	6503	SO:0001583	missense	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.688G>A	1.37:g.100335979G>A	ENSP00000294724:p.Glu230Lys		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.E230K	ENST00000294724.4	37	c.688	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	g	13.39	2.224358	0.39300	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.37	4.46	0.54185	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.239016	0.42682	D	0.000661	T	0.67211	0.2869	L	0.48642	1.525	0.40083	D	0.976152	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.15052	0.012;0.012;0.005	T	0.67669	-0.5611	10	0.45353	T	0.12	.	6.132	0.20211	0.1657:0.28:0.5543:0.0	.	213;214;230	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	K	230;230;230;230;214;214;213	ENSP00000355106:E230K;ENSP00000359184:E230K;ENSP00000359182:E230K;ENSP00000294724:E230K;ENSP00000354971:E214K;ENSP00000359180:E214K;ENSP00000354635:E213K	ENSP00000294724:E230K	E	+	1	0	AGL	100108567	0.594000	0.26849	0.993000	0.49108	0.995000	0.86356	2.109000	0.41863	1.398000	0.46701	0.585000	0.79938	GAA	AGL	-	superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.388	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	-	0	46	0	G	NM_000028		100335979	1	tier1	-	no_errors	ENST00000294724	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.954	A	A	100335979	G	A	100335979	3	1	81	1	0	0	0	0	1	0	0	0	384	1175	41	3	775	3	AGL	1	100335979	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	25233921	100335979	148914642	10	21277											
FLG	2312	genome.wustl.edu	37	chr1	152284192	152284192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtccactgtctctgactGcagatgaagcttgtctgcgc	7	12	11	11	1	2	3	0	2	2	1	4	3	3	3	1	0	3	2	1	0	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:152284192G>T	ENST00000368799.1	-	3	3205	c.3170C>A	c.(3169-3171)gCa>gAa	p.A1057E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1057	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTCTGACTGCAGATGAAGC	0.562									Ichthyosis																																								0													410	406	408					1																	152284192		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3170C>A	1.37:g.152284192G>T	ENSP00000357789:p.Ala1057Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A1057E	ENST00000368799.1	37	c.3170	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	8.695	0.908302	0.17833	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.04809	3.55	3.74	-3.3	0.05003	.	.	.	.	.	T	0.01029	0.0034	L	0.56769	1.78	0.09310	N	1	B	0.29909	0.261	B	0.23716	0.048	T	0.48210	-0.9055	9	0.02654	T	1	.	7.0409	0.25019	0.0:0.1652:0.2744:0.5604	.	1057	P20930	FILA_HUMAN	E	1057;264	ENSP00000357789:A1057E	ENSP00000357789:A1057E	A	-	2	0	FLG	150550816	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-2.142000	0.01298	-0.411000	0.07530	0.299000	0.19835	GCA	FLG	-	pfam_Filaggrin,prints_Filaggrin	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	288	0	G	NM_002016		152284192	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	6.02	156	10	SNP	0.000	T	T	152284192	G	T	152284192	3	4	81	1	0	0	0	0	1	0	0	0	5944	1319	46	3	9019	3	FLG	1	152284192	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	51948213	152284192	96966429	11	21278											
KPRP	448834	genome.wustl.edu	37	chr1	152732632	152732632	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcaaggctcctatagcAgttgtggcccccagtttcag	9	11	10	11	0	2	0	2	0	0	0	3	0	3	0	3	2	1	5	3	2	4	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:152732632A>G	ENST00000606109.1	+	1	596	c.568A>G	c.(568-570)Agt>Ggt	p.S190G	KPRP_ENST00000368773.1_Missense_Mutation_p.S190G			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	190	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTATAGCAGTTGTGGCCC	0.562																																																	0													146	144	144					1																	152732632		2203	4300	6503	SO:0001583	missense	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.568A>G	1.37:g.152732632A>G	ENSP00000475216:p.Ser190Gly			Missense_Mutation	SNP	NULL	p.S190G	ENST00000606109.1	37	c.568	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	A	1.691	-0.503901	0.04261	.	.	ENSG00000203786	ENST00000368773	T	0.13307	2.6	4.73	1.0	0.19881	.	0.817195	0.10860	N	0.626232	T	0.02380	0.0073	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46345	-0.9198	10	0.34782	T	0.22	-0.9989	6.3096	0.21156	0.6536:0.0:0.3464:0.0	.	190	Q5T749	KPRP_HUMAN	G	190	ENSP00000357762:S190G	ENSP00000357762:S190G	S	+	1	0	KPRP	150999256	0.006000	0.16342	0.001000	0.08648	0.015000	0.08874	0.572000	0.23684	0.075000	0.16796	0.533000	0.62120	AGT	KPRP	-	NULL	ENSG00000203786		0.562	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	-	0	65	0	A	NM_001025231		152732632	1	tier1	-	no_errors	ENST00000368773	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.001	G	G	152732632	A	G	152732632	3	3	81	1	0	0	0	0	1	0	0	0	8463	188	7	4	570	4	KPRP	1	152732632	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	448440	152732632	96517989	12	21279											
ROBLD3	28956	genome.wustl.edu	37	chr1	156028130	156028130	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctttggtgcagtacctgGaggagcccctcacccaagtg	8	8	13	12	0	1	0	1	0	0	0	1	2	1	2	4	4	3	3	4	4	2	2	rs552090098		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:156028130G>T	ENST00000368305.4	+	4	484	c.346G>T	c.(346-348)Gag>Tag	p.E116*	RAB25_ENST00000361084.5_5'Flank|LAMTOR2_ENST00000368304.5_Nonsense_Mutation_p.E86*|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.G128V	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	116					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)		p.E116K(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GCAGTACCTGGAGGAGCCCCT	0.587																																																	1	Substitution - Missense(1)	cervix(1)											101	98	99					1																	156028130		2203	4300	6503	SO:0001587	stop_gained	0			BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"mitogen activated protein binding protein interacting protein", "MAPKSP1 adaptor protein", "endosomal adaptor protein"	610389	"roadblock domain containing 3"	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.346G>T	1.37:g.156028130G>T	ENSP00000357288:p.Glu116*		Q5VY97|Q5VY98|Q5VY99	Nonsense_Mutation	SNP	pfam_Dynein_light-rel,smart_Dynein_light-rel	p.E116*	ENST00000368305.4	37	c.346	CCDS1128.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.855863|4.855863	0.91355|0.91355	.|.	.|.	ENSG00000116586|ENSG00000116586	ENST00000368305;ENST00000368304|ENST00000368302	.|.	.|.	.|.	5.58|5.58	4.67|4.67	0.58626|0.58626	.|.	.|0.000000	.|0.42053	.|U	.|0.000777	.|T	.|0.65354	.|0.2683	.|.	.|.	.|.	0.52501|0.52501	D|D	0.999954|0.999954	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71451	.|-0.4589	.|6	0.66056|0.87932	D|D	0.02|0	-4.2486|-4.2486	13.1713|13.1713	0.59599|0.59599	0.0776:0.0:0.9224:0.0|0.0776:0.0:0.9224:0.0	.|.	.|.	.|.	.|.	X|V	116;86|128	.|.	ENSP00000357287:E86X|ENSP00000357285:G128V	E|G	+|+	1|2	0|0	LAMTOR2|LAMTOR2	154294754|154294754	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.200000|7.200000	0.77838|0.77838	1.370000|1.370000	0.46153|0.46153	-0.136000|-0.136000	0.14681|0.14681	GAG|GGA	LAMTOR2	-	NULL	ENSG00000116586		0.587	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR2	HGNC	protein_coding	OTTHUMT00000046197.1		0	62	0	G	NM_014017		156028130	1			no_errors	ENST00000368305	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	1.000	T	T	156028130	G	T	156028130	4	4	81	1	0	0	0	0	0	1	0	0	13557	1175	41	3	360	3	ROBLD3	1	156028130	Nonsense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	3295498	156028130	93222491	13	21280											
OR10R2	343406	genome.wustl.edu	37	chr1	158449953	158449953	+	Frame_Shift_Del	DEL	G	G	-																															ctgagaccttctacacctttGtcattctacccaagatgctc																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:158449953delG	ENST00000368152.1	+	1	286	c.286delG	c.(286-288)gtcfs	p.V96fs	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTACACCTTTGTCATTCTACC	0.433																																																	0													313	268	283					1																	158449953		2203	4300	6503	SO:0001589	frameshift_variant	0			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"GPCR / Class A : Olfactory receptors"	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.286delG	1.37:g.158449953delG	ENSP00000357134:p.Val96fs		Q5VWM8|Q6IFS1|Q96R61	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V96fs	ENST00000368152.1	37	c.286	CCDS30898.1	1																																																																																			OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198965		0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2		0	54	0	G	NM_001004472		158449953	1	tier1		no_errors	ENST00000368152	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	0.853	-	-	158449953	G	-	158449953	7	5	81	1	0	1	0	1	0	0	0	0	10956	1377	48	0	288	0	OR10R2	1	158449953	Frame_Shift_Del	DEL	G	TCGA-L5-A8NG-01A-11D-A37C-09	2421823	158449953	90800668	14	21281											
SPTA1	6708	genome.wustl.edu	37	chr1	158584068	158584068	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattgtgctaaattcctttaGagtctcttcactcacacctt	9	16	5	11	0	3	1	2	0	1	1	5	2	4	1	2	0	1	1	2	0	3	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:158584068G>C	ENST00000368147.4	-	49	6997	c.6817C>G	c.(6817-6819)Cta>Gta	p.L2273V	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2273	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L2273L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATTCCTTTAGAGTCTCTTCA	0.328																																																	1	Substitution - coding silent(1)	lung(1)											79	77	78					1																	158584068		1805	4068	5873	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6817C>G	1.37:g.158584068G>C	ENSP00000357129:p.Leu2273Val		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L2273V	ENST00000368147.4	37	c.6817	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228763	0.22542	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.23147	1.92;1.92	5.53	1.44	0.22558	EF-hand-like domain (1);	.	.	.	.	T	0.30759	0.0775	M	0.83223	2.63	0.09310	N	1	D	0.67145	0.996	P	0.58454	0.839	T	0.09552	-1.0669	9	0.87932	D	0	.	9.5521	0.39317	0.3049:0.0:0.6951:0.0	.	2273	P02549	SPTA1_HUMAN	V	2273;2270	ENSP00000357130:L2273V;ENSP00000357129:L2270V	ENSP00000357129:L2270V	L	-	1	2	SPTA1	156850692	0.994000	0.37717	0.001000	0.08648	0.030000	0.12068	2.584000	0.46102	0.109000	0.17891	0.650000	0.86243	CTA	SPTA1	-	pfscan_EF_hand_dom	ENSG00000163554		0.328	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	82	0	G	NM_003126		158584068	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.018	C	C	158584068	G	C	158584068	3	2	81	1	0	0	0	0	1	0	0	0	15163	933	33	5	458	5	SPTA1	1	158584068	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	134115	158584068	90666553	15	21282											
PVRL4	81607	genome.wustl.edu	37	chr1	161044500	161044500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggtcagtgggggaaagcCcaaagtgtccccatccactc	10	7	12	12	0	1	0	1	0	0	0	4	1	3	1	4	3	1	0	4	3	2	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:161044500C>T	ENST00000368012.3	-	5	1203	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_Missense_Mutation_p.G35S	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	301	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGGGGAAAGCCCAAAGTGTCC	0.592																																					NSCLC(76;1160 1387 14476 16172 29359)												0													90	88	89					1																	161044500		2203	4300	6503	SO:0001583	missense	0			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.901G>A	1.37:g.161044500C>T	ENSP00000356991:p.Gly301Ser		B4DQW3|Q96K15	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G301S	ENST00000368012.3	37	c.901	CCDS1216.1	1	.	.	.	.	.	.	.	.	.	.	C	9.870	1.198778	0.22121	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.19806	2.12;2.12	4.84	2.74	0.32292	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.203527	0.34959	N	0.003549	T	0.01489	0.0048	N	0.00436	-1.5	0.33933	D	0.642285	B;B	0.06786	0.0;0.001	B;B	0.12156	0.003;0.007	T	0.43114	-0.9411	10	0.22109	T	0.4	.	7.5617	0.27855	0.0:0.7852:0.0:0.2148	.	35;301	B4DQW3;Q96NY8	.;PVRL4_HUMAN	S	301;35	ENSP00000356991:G301S;ENSP00000406015:G35S	ENSP00000356991:G301S	G	-	1	0	PVRL4	159311124	0.997000	0.39634	0.994000	0.49952	0.509000	0.34042	0.204000	0.17335	0.505000	0.28104	0.561000	0.74099	GGC	PVRL4	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143217		0.592	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL4	HGNC	protein_coding	OTTHUMT00000077074.1	-	0	46	0	C	NM_030916		161044500	-1	tier1	-	no_errors	ENST00000368012	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.999	T	T	161044500	C	T	161044500	3	4	81	1	0	0	0	0	1	0	0	0	12887	623	22	3	651	3	PVRL4	1	161044500	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2460432	161044500	88206121	16	21283											
PRDX6	9588	genome.wustl.edu	37	chr1	173454533	173454533	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgtgaagagcccacaGaaaagttaccttttcccatc	14	10	6	11	0	0	3	0	1	0	2	2	3	1	3	3	0	2	1	3	0	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:173454533G>T	ENST00000340385.5	+	3	418	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	96	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				hydrogen peroxide catabolic process (GO:0042744)|phospholipid catabolic process (GO:0009395)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)	antioxidant activity (GO:0016209)|glutathione peroxidase activity (GO:0004602)|peroxiredoxin activity (GO:0051920)|phospholipase A2 activity (GO:0004623)	p.E96*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGAGCCCACAGAAAAGTTACC	0.438																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											145	136	139					1																	173454533		2203	4300	6503	SO:0001587	stop_gained	0			D14662	CCDS1307.1	1q24.1	2008-02-05			ENSG00000117592	ENSG00000117592			16753	protein-coding gene	gene with protein product		602316				11233154	Standard	NM_004905		Approved	AOP2, KIAA0106, 1-Cys, NSGPx, PRX, aiPLA2, MGC46173, p29	uc001giy.1	P30041	OTTHUMG00000034804	ENST00000340385.5:c.286G>T	1.37:g.173454533G>T	ENSP00000342026:p.Glu96*		A8JZY7|P32077|Q5TAH4|Q5ZEZ8	Nonsense_Mutation	SNP	pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold	p.E96*	ENST00000340385.5	37	c.286	CCDS1307.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.305991	0.95629	.	.	ENSG00000117592	ENST00000340385	.	.	.	5.27	5.27	0.74061	.	0.273464	0.43110	D	0.000610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-17.9239	18.0125	0.89229	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000342026:E96X	E	+	1	0	PRDX6	171721156	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.324000	0.43831	2.614000	0.88457	0.650000	0.86243	GAA	PRDX6	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117592		0.438	PRDX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX6	HGNC	protein_coding	OTTHUMT00000084222.1		0	73	0	G	NM_004905		173454533	1			no_errors	ENST00000340385	ensembl	human	known	74_37	nonsense	7.14	39	3	SNP	0.996	T	T	173454533	G	T	173454533	4	4	81	1	0	0	0	0	0	1	0	0	12511	943	33	3	296	3	PRDX6	1	173454533	Nonsense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	12410033	173454533	75796088	17	21284											
PAPPA2	60676	genome.wustl.edu	37	chr1	176564689	176564689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcgacccccaggtggCtgatgtgcgcaagacctgct	6	8	13	14	2	0	2	0	1	0	1	0	3	0	2	3	2	4	4	3	2	1	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:176564689C>T	ENST00000367662.3	+	3	3113	c.1949C>T	c.(1948-1950)gCt>gTt	p.A650V	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A650V	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	650	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCAGGTGGCTGATGTGCGC	0.537																																																	0													52	57	55					1																	176564689		2165	4266	6431	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1949C>T	1.37:g.176564689C>T	ENSP00000356634:p.Ala650Val		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.A650V	ENST00000367662.3	37	c.1949	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696535	0.48202	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32272	4.7;1.46	5.42	5.42	0.78866	.	0.455547	0.24815	N	0.035363	T	0.20495	0.0493	N	0.22421	0.69	0.31423	N	0.674115	B;P	0.36222	0.129;0.544	B;B	0.27170	0.045;0.077	T	0.24764	-1.0151	10	0.72032	D	0.01	-3.4059	14.4588	0.67435	0.0:0.853:0.147:0.0	.	650;650	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	V	650	ENSP00000356634:A650V;ENSP00000356633:A650V	ENSP00000356633:A650V	A	+	2	0	PAPPA2	174831312	0.619000	0.27059	0.741000	0.31004	0.400000	0.30750	5.874000	0.69652	2.542000	0.85734	0.650000	0.86243	GCT	PAPPA2	-	NULL	ENSG00000116183		0.537	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	35	0	C			176564689	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.998	T	T	176564689	C	T	176564689	3	4	81	1	0	0	0	0	1	0	0	0	11472	797	28	3	1955	3	PAPPA2	1	176564689	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	3110156	176564689	72685932	18	21285											
PAPPA2	60676	genome.wustl.edu	37	chr1	176668488	176668488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacctgggccccttagAcactttctgtgacatcccac	8	10	8	15	0	1	2	0	1	1	1	2	2	2	2	4	1	1	1	4	1	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:176668488A>G	ENST00000367662.3	+	8	4163	c.2999A>G	c.(2998-3000)gAc>gGc	p.D1000G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1000					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCCCTTAGACACTTTCTGT	0.512																																																	0													195	197	197					1																	176668488		2131	4251	6382	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2999A>G	1.37:g.176668488A>G	ENSP00000356634:p.Asp1000Gly		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.D1000G	ENST00000367662.3	37	c.2999	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	A	18.33	3.599717	0.66332	.	.	ENSG00000116183	ENST00000367662	T	0.01613	4.73	5.38	5.38	0.77491	Fibronectin, type III (2);	0.246169	0.47455	D	0.000228	T	0.02571	0.0078	L	0.36672	1.1	0.80722	D	1	B	0.25563	0.129	B	0.26614	0.071	T	0.55237	-0.8172	10	0.62326	D	0.03	-10.8433	15.2247	0.73342	1.0:0.0:0.0:0.0	.	1000	Q9BXP8	PAPP2_HUMAN	G	1000	ENSP00000356634:D1000G	ENSP00000356634:D1000G	D	+	2	0	PAPPA2	174935111	1.000000	0.71417	0.925000	0.36789	0.999000	0.98932	6.612000	0.74187	2.254000	0.74563	0.533000	0.62120	GAC	PAPPA2	-	superfamily_Fibronectin_type3	ENSG00000116183		0.512	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0	60	0	A			176668488	1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.975	G	G	176668488	A	G	176668488	3	3	81	1	0	0	0	0	1	0	0	0	11472	275	10	4	3078	4	PAPPA2	1	176668488	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	103799	176668488	72582133	19	21286											
FAM20B	9917	genome.wustl.edu	37	chr1	179033624	179033624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatccttcttgataatGccaaaaggtgagaccagcag	12	10	9	10	0	2	2	1	2	1	1	3	3	3	2	3	1	3	2	3	1	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:179033624G>T	ENST00000263733.4	+	6	1267	c.931G>T	c.(931-933)Gcc>Tcc	p.A311S		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	311						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						TCTTGATAATGCCAAAAGGTG	0.463																																																	0													68	60	63					1																	179033624		2203	4300	6503	SO:0001583	missense	0			AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"glycosaminoglycan xylosylkinase"	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	ENST00000263733.4:c.931G>T	1.37:g.179033624G>T	ENSP00000263733:p.Ala311Ser		Q5W0C3|Q5W0C4	Missense_Mutation	SNP	pfam_DUF1193	p.A311S	ENST00000263733.4	37	c.931	CCDS1328.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.179033	0.94846	.	.	ENSG00000116199	ENST00000263733	T	0.80480	-1.38	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	M	0.76574	2.34	0.80722	D	1	D	0.65815	0.995	D	0.69307	0.963	D	0.90058	0.4154	10	0.72032	D	0.01	-22.2064	19.773	0.96379	0.0:0.0:1.0:0.0	.	311	O75063	XYLK_HUMAN	S	311	ENSP00000263733:A311S	ENSP00000263733:A311S	A	+	1	0	FAM20B	177300247	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.476000	0.97823	2.677000	0.91161	0.655000	0.94253	GCC	FAM20B	-	pfam_DUF1193	ENSG00000116199		0.463	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20B	HGNC	protein_coding	OTTHUMT00000084922.1	-	0	45	0	G	NM_014864		179033624	1	tier1	-	no_errors	ENST00000263733	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	179033624	G	T	179033624	3	4	81	1	0	0	0	0	1	0	0	0	5557	1319	46	3	949	3	FAM20B	1	179033624	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2365136	179033624	70216997	20	21287											
KIAA1614	57710	genome.wustl.edu	37	chr1	180897674	180897674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccggcccctccgtgccagCcatgacatcgtgcccaccat	7	6	8	20	3	0	1	0	1	0	0	2	1	1	1	8	1	3	0	8	1	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:180897674C>T	ENST00000367588.4	+	4	1225	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	KIAA1614_ENST00000367587.1_Silent_p.S11S	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	390										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCGTGCCAGCCATGACATCG	0.672																																																	0													24	29	27					1																	180897674		2043	4205	6248	SO:0001819	synonymous_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1170C>T	1.37:g.180897674C>T			Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.S390	ENST00000367588.4	37	c.1170	CCDS41442.1	1																																																																																			KIAA1614	-	NULL	ENSG00000135835		0.672	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	-	0	74	0	C	XM_046531		180897674	1	tier1	-	no_errors	ENST00000367588	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	T	T	180897674	C	T	180897674	2	4	81	1	0	0	0	0	0	0	0	1	8275	738	26	3		3	KIAA1614	1	180897674	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1864050	180897674	68352947	21	21288											
HMCN1	83872	genome.wustl.edu	37	chr1	185878509	185878509	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagtacaggcctccaaagTtcaccttttatccacagatc	12	10	6	13	0	1	1	1	0	0	1	4	1	3	1	4	1	2	3	4	1	3	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:185878509T>G	ENST00000271588.4	+	5	891	c.662T>G	c.(661-663)gTt>gGt	p.V221G	HMCN1_ENST00000367492.2_Missense_Mutation_p.V221G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	221					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCTCCAAAGTTCACCTTTTA	0.393																																																	0													100	96	98					1																	185878509		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.662T>G	1.37:g.185878509T>G	ENSP00000271588:p.Val221Gly		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.V221G	ENST00000271588.4	37	c.662	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.731657	0.89390	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.77620	-1.1;-1.11	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89444	0.6717	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90871	0.4746	10	0.87932	D	0	.	16.635	0.85050	0.0:0.0:0.0:1.0	.	221	Q96RW7	HMCN1_HUMAN	G	221	ENSP00000271588:V221G;ENSP00000356462:V221G	ENSP00000271588:V221G	V	+	2	0	HMCN1	184145132	1.000000	0.71417	0.986000	0.45419	0.977000	0.68977	8.013000	0.88655	2.330000	0.79161	0.477000	0.44152	GTT	HMCN1	-	NULL	ENSG00000143341		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	104	0	T	NM_031935		185878509	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	21.67	47	13	SNP	1.000	G	G	185878509	T	G	185878509	3	3	81	1	0	0	0	0	1	0	0	0	7247	1725	60	4	680	4	HMCN1	1	185878509	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	4980835	185878509	63372112	22	21289											
KCNT2	343450	genome.wustl.edu	37	chr1	196197421	196197421	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttcttcgactgggcTcactgtttggaaggtaggcc	5	14	13	9	1	2	0	1	0	1	0	3	2	2	1	1	4	1	5	1	4	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:196197421T>A	ENST00000294725.9	-	28	4256	c.3341A>T	c.(3340-3342)gAg>gTg	p.E1114V	KCNT2_ENST00000367433.5_Missense_Mutation_p.E1090V|KCNT2_ENST00000367431.4_Missense_Mutation_p.E1048V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.E1047V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1114					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCGACTGGGCTCACTGTTTGG	0.348																																																	0													76	74	75					1																	196197421		2203	4300	6503	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3341A>T	1.37:g.196197421T>A	ENSP00000294725:p.Glu1114Val		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.E1114V	ENST00000294725.9	37	c.3341	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	9.102	1.004379	0.19199	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.19532	2.14;2.15;2.42	5.62	2.04	0.26737	.	0.097479	0.44688	D	0.000431	T	0.08626	0.0214	N	0.08118	0	0.80722	D	1	B;B;B	0.18968	0.032;0.032;0.008	B;B;B	0.25614	0.038;0.062;0.01	T	0.16689	-1.0394	10	0.45353	T	0.12	-14.2906	1.5606	0.02594	0.1181:0.1743:0.2937:0.4139	.	1090;1047;1114	Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;KCNT2_HUMAN	V	1090;1048;1114	ENSP00000356403:E1090V;ENSP00000356401:E1048V;ENSP00000294725:E1114V	ENSP00000294725:E1114V	E	-	2	0	KCNT2	194464044	0.984000	0.35163	0.973000	0.42090	0.326000	0.28443	2.360000	0.44151	0.971000	0.38288	-0.361000	0.07541	GAG	KCNT2	-	NULL	ENSG00000162687		0.348	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	78	0	T	NM_198503		196197421	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	34.69	32	17	SNP	0.991	A	A	196197421	T	A	196197421	3	1	81	1	0	0	0	0	1	0	0	0	8119	1551	54	5	70	5	KCNT2	1	196197421	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	10318912	196197421	53053200	23	21290											
ETNK2	55224	genome.wustl.edu	37	chr1	204106375	204106375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtaatccacctcattcaCgcctgagggggaggcaggcc	9	6	13	13	1	2	1	2	1	0	0	3	2	3	2	4	4	0	3	4	4	1	2	rs533254441	byFrequency	TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:204106375C>T	ENST00000367202.4	-	6	1021	c.871G>A	c.(871-873)Gtg>Atg	p.V291M	ETNK2_ENST00000367197.1_De_novo_Start_InFrame|ETNK2_ENST00000367201.3_Missense_Mutation_p.V291M|ETNK2_ENST00000367198.2_Missense_Mutation_p.V113M|ETNK2_ENST00000477125.1_5'Flank|ETNK2_ENST00000367199.2_Missense_Mutation_p.V222M	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	291					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTCATTCACGCCTGAGGGG	0.607													C|||	2	0.000399361	8e-04	0	5008	,	,		18598	0		0	False		,,,				2504	0.001																0													41	39	40					1																	204106375		2203	4300	6503	SO:0001583	missense	0			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.871G>A	1.37:g.204106375C>T	ENSP00000356170:p.Val291Met		B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.V291M	ENST00000367202.4	37	c.871	CCDS1442.2	1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352666	0.41700	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817	T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.46	5.46	0.80206	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.051867	0.85682	D	0.000000	T	0.51278	0.1665	L	0.45698	1.435	0.39177	D	0.962711	P;P;D	0.60575	0.794;0.828;0.988	B;B;P	0.48063	0.176;0.269;0.565	T	0.52403	-0.8580	10	0.34782	T	0.22	-4.5192	12.9904	0.58616	0.1612:0.8388:0.0:0.0	.	250;291;291	Q9NVF9-3;Q9NVF9;Q9NVF9-2	.;EKI2_HUMAN;.	M	291;291;222;157;113;157;148;137	ENSP00000356169:V291M;ENSP00000356170:V291M;ENSP00000356167:V222M;ENSP00000356166:V113M;ENSP00000405497:V157M;ENSP00000398091:V148M;ENSP00000406241:V137M	ENSP00000356166:V113M	V	-	1	0	ETNK2	202372998	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.870000	0.56070	2.557000	0.86248	0.467000	0.42956	GTG	ETNK2	-	superfamily_Kinase-like_dom	ENSG00000143845		0.607	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1		0	36	0	C	NM_018208		204106375	-1			no_errors	ENST00000367201	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	204106375	C	T	204106375	3	4	81	1	0	0	0	0	1	0	0	0	5290	536	19	1	301	1	ETNK2	1	204106375	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	7908954	204106375	45144246	24	21291											
CAPN9	10753	genome.wustl.edu	37	chr1	230883352	230883352	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgaggcaggagtgccTgcagagaggcaccctgtttg	10	7	15	9	0	0	2	0	1	0	1	0	4	0	3	2	3	2	5	2	3	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:230883352T>G	ENST00000271971.2	+	1	223	c.110T>G	c.(109-111)cTg>cGg	p.L37R	CAPN9_ENST00000366666.2_Missense_Mutation_p.L37R|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.L37R	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	37					digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGAGTGCCTGCAGAGAGGC	0.607																																																	0													63	65	64					1																	230883352		2203	4300	6503	SO:0001583	missense	0			AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"EF-hand domain containing"	1486	protein-coding gene	gene with protein product	"novel calpain large subunit-4"	606401	"calpain 9 (nCL-4)"			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.110T>G	1.37:g.230883352T>G	ENSP00000271971:p.Leu37Arg		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,prints_Calpain_cysteine_protease,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat	p.L37R	ENST00000271971.2	37	c.110	CCDS1586.1	1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233672	0.58886	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.50001	0.76;0.76;0.76	5.29	5.29	0.74685	Peptidase C2, calpain, catalytic domain (1);	0.067900	0.64402	D	0.000011	T	0.47911	0.1471	N	0.19112	0.55	0.32643	N	0.52041	P;P;P	0.51240	0.943;0.889;0.832	P;P;B	0.54238	0.641;0.746;0.402	T	0.61964	-0.6954	10	0.66056	D	0.02	.	15.2297	0.73378	0.0:0.0:0.0:1.0	.	37;37;37	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	R	37	ENSP00000271971:L37R;ENSP00000346538:L37R;ENSP00000355626:L37R	ENSP00000271971:L37R	L	+	2	0	CAPN9	228949975	1.000000	0.71417	0.016000	0.15963	0.738000	0.42128	3.764000	0.55264	1.995000	0.58328	0.533000	0.62120	CTG	CAPN9	-	smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000135773		0.607	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN9	HGNC	protein_coding	OTTHUMT00000092179.1	-	0	152	0	T	NM_006615		230883352	1	tier1	-	no_errors	ENST00000271971	ensembl	human	known	74_37	missense	33.33	41	21	SNP	1.000	G	G	230883352	T	G	230883352	3	3	81	1	0	0	0	0	1	0	0	0	2639	1580	55	4	112	4	CAPN9	1	230883352	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	26776977	230883352	18367269	25	21292											
HEATR1	55127	genome.wustl.edu	37	chr1	236749748	236749748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcggctatcttaagtacctCgtacctaaaagacatgcaag	14	9	8	10	2	1	1	0	0	1	1	2	1	1	1	2	1	4	4	2	1	7	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:236749748C>T	ENST00000366582.3	-	15	1834	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	HEATR1_ENST00000366581.2_Missense_Mutation_p.E574K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	574					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.E574K(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTAAGTACCTCGTACCTAAAA	0.368																																																	2	Substitution - Missense(2)	breast(2)											82	85	84					1																	236749748		2201	4299	6500	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1720G>A	1.37:g.236749748C>T	ENSP00000355541:p.Glu574Lys		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E574K	ENST00000366582.3	37	c.1720	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.545232	0.00926	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.38401	1.14;1.14	5.28	-1.04	0.10068	Armadillo-like helical (1);Armadillo-type fold (1);	0.797254	0.12163	N	0.493770	T	0.12433	0.0302	N	0.02916	-0.46	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.33266	-0.9875	10	0.02654	T	1	.	10.9619	0.47389	0.0:0.4097:0.0:0.5903	.	574	Q9H583	HEAT1_HUMAN	K	574	ENSP00000355541:E574K;ENSP00000355540:E574K	ENSP00000355540:E574K	E	-	1	0	HEATR1	234816371	0.903000	0.30736	0.054000	0.19295	0.257000	0.26127	0.775000	0.26689	-0.137000	0.11455	-1.320000	0.01293	GAG	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.368	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1		0	23	0	C	XM_375853		236749748	-1			no_errors	ENST00000366582	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.138	T	T	236749748	C	T	236749748	3	4	81	1	0	0	0	0	1	0	0	0	7054	893	31	1	4838	1	HEATR1	1	236749748	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5866396	236749748	12500873	26	21293											
WDR64	128025	genome.wustl.edu	37	chr1	241934999	241934999	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatgacagtgaggttaaaGgtcagtatgaaatcacctct	14	11	9	7	0	3	3	2	3	1	0	3	3	3	3	1	2	1	2	1	2	5	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:241934999G>T	ENST00000366552.2	+	18	2467	c.2260G>T	c.(2260-2262)Ggt>Tgt	p.G754C	WDR64_ENST00000437684.2_Intron	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	754										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			TGAGGTTAAAGGTCAGTATGA	0.353																																																	0													160	134	142					1																	241934999		692	1590	2282	SO:0001630	splice_region_variant	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2260+1G>T	1.37:g.241934999G>T			B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G754C	ENST00000366552.2	37	c.2260		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.58|17.58	3.425108|3.425108	0.62733|0.62733	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552|ENST00000425826	T|T	0.52983|0.57436	0.64|0.4	5.37|5.37	5.37|5.37	0.77165|0.77165	WD40 repeat-like-containing domain (1);|.	0.803554|.	0.11353|.	N|.	0.572706|.	T|T	0.62146|0.62146	0.2404|0.2404	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.59703|.	0.862|.	T|T	0.57883|0.57883	-0.7734|-0.7734	10|7	0.38643|0.29301	T|T	0.18|0.29	-15.3808|-15.3808	14.6103|14.6103	0.68512|0.68512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	754|.	B1ANS9|.	WDR64_HUMAN|.	C|N	754|232	ENSP00000355510:G754C|ENSP00000406342:K232N	ENSP00000355510:G754C|ENSP00000406342:K232N	G|K	+|+	1|3	0|2	WDR64|WDR64	240001622|240001622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.626000|0.626000	0.37791|0.37791	2.894000|2.894000	0.48640|0.48640	2.509000|2.509000	0.84616|0.84616	0.655000|0.655000	0.94253|0.94253	GGT|AAG	WDR64	-	superfamily_WD40_repeat_dom	ENSG00000162843		0.353	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding			0	54	0	G	NM_144625	Missense_Mutation	241934999	1			no_errors	ENST00000366552	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	241934999	G	T	241934999	5	4	81	1	0	0	0	0	0	0	1	0	17364	1014	35	3	2330	3	WDR64	1	241934999	Splice_Site	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	5185251	241934999	7315622	27	21294											
OR2M5	127059	genome.wustl.edu	37	chr1	248308866	248308866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaatctcatgagacccaaAatttgtggacttatgactgc	13	11	7	10	0	1	2	1	2	1	1	2	4	1	3	2	1	1	0	2	1	4	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr1:248308866A>G	ENST00000366476.1	+	1	417	c.417A>G	c.(415-417)aaA>aaG	p.K139K		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGAGACCCAAAATTTGTGGAC	0.473																																																	0													260	261	261					1																	248308866		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"GPCR / Class A : Olfactory receptors"	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.417A>G	1.37:g.248308866A>G				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K139	ENST00000366476.1	37	c.417	CCDS31105.1	1																																																																																			OR2M5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000162727		0.473	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	-	0	175	0	A	NM_001004690		248308866	1	tier1	-	no_errors	ENST00000366476	ensembl	human	known	74_37	silent	30.68	61	27	SNP	0.000	G	G	248308866	A	G	248308866	2	3	81	1	0	0	0	0	0	0	0	1	11052	11	1	4		4	OR2M5	1	248308866	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	6373867	248308866	941755	28	21295											
GREB1	9687	genome.wustl.edu	37	chr2	11765431	11765431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcactatcagggtataaaGagtgaaggtcagactttgaa	14	10	11	6	1	2	4	2	2	0	2	3	4	2	4	0	2	0	2	0	2	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:11765431G>T	ENST00000381486.2	+	24	4599	c.4299G>T	c.(4297-4299)aaG>aaT	p.K1433N	GREB1_ENST00000396123.1_Missense_Mutation_p.K431N|GREB1_ENST00000234142.5_Missense_Mutation_p.K1433N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1433						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGGGTATAAAGAGTGAAGGTC	0.463																																					Ovarian(39;850 945 2785 23371 33093)												0													221	206	211					2																	11765431		1919	4127	6046	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4299G>T	2.37:g.11765431G>T	ENSP00000370896:p.Lys1433Asn		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.K1433N	ENST00000381486.2	37	c.4299	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	4.659	0.122441	0.08931	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.25085	3.14;3.14;1.82	5.0	2.17	0.27698	.	0.590649	0.18767	N	0.131713	T	0.13713	0.0332	N	0.19112	0.55	0.27986	N	0.93585	B	0.11235	0.004	B	0.10450	0.005	T	0.17077	-1.0381	10	0.31617	T	0.26	-16.1818	5.4981	0.16813	0.3157:0.2345:0.4499:0.0	.	1433	Q4ZG55	GREB1_HUMAN	N	1433;1433;431	ENSP00000370896:K1433N;ENSP00000234142:K1433N;ENSP00000379429:K431N	ENSP00000234142:K1433N	K	+	3	2	GREB1	11682882	0.086000	0.21541	0.013000	0.15412	0.178000	0.23041	-0.098000	0.11024	0.510000	0.28216	0.655000	0.94253	AAG	GREB1	-	NULL	ENSG00000196208		0.463	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	53	0	G	NM_014668		11765431	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.864	T	T	11765431	G	T	11765431	3	4	81	1	0	0	0	0	1	0	0	0	6787	933	33	3	4497	3	GREB1	2	11765431	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		11765431	231433942	29	21296											
NCOA1	8648	genome.wustl.edu	37	chr2	24905949	24905949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctacagcatactgcacGtgggggatcatgcagaattt	10	10	12	9	2	2	1	1	0	1	1	2	2	2	2	0	2	5	3	0	2	3	3	rs375111492		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:24905949G>A	ENST00000406961.1	+	8	1136	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	NCOA1_ENST00000405141.1_Missense_Mutation_p.V162M|NCOA1_ENST00000348332.3_Missense_Mutation_p.V162M|NCOA1_ENST00000288599.5_Missense_Mutation_p.V162M|NCOA1_ENST00000407230.1_Missense_Mutation_p.V11M|NCOA1_ENST00000395856.3_Missense_Mutation_p.V162M|NCOA1_ENST00000538539.1_Missense_Mutation_p.V162M			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	162	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATACTGCACGTGGGGGATCA	0.388			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0								G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	74	72	73		484,484,484	5.6	1	2		73	0,8600		0,0,4300	no	missense,missense,missense	NCOA1	NM_003743.4,NM_147223.2,NM_147233.2	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	162/1442,162/1400,162/1441	24905949	1,13005	2203	4300	6503	SO:0001583	missense	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.484G>A	2.37:g.24905949G>A	ENSP00000385216:p.Val162Met		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.V162M	ENST00000406961.1	37	c.484	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476333	0.84640	2.27E-4	0.0	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.17370	2.28;2.28;4.32;2.28;2.28;2.28;2.28	5.55	5.55	0.83447	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.989;1.0	D;D;P;D	0.85130	0.997;0.99;0.867;0.995	T	0.26916	-1.0089	10	0.72032	D	0.01	.	19.0969	0.93255	0.0:0.0:1.0:0.0	.	162;162;162;11	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	M	162;162;11;162;162;162;162	ENSP00000385216:V162M;ENSP00000385097:V162M;ENSP00000385195:V11M;ENSP00000444039:V162M;ENSP00000320940:V162M;ENSP00000288599:V162M;ENSP00000379197:V162M	ENSP00000288599:V162M	V	+	1	0	NCOA1	24759453	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.876000	0.87215	2.616000	0.88540	0.655000	0.94253	GTG	NCOA1	-	pfam_PAS_fold,superfamily_PAS,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS	ENSG00000084676		0.388	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3		0	49	0	G	NM_147223		24905949	1			no_errors	ENST00000348332	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A	A	24905949	G	A	24905949	3	1	81	1	0	0	0	0	1	0	0	0	10267	1145	40	1	498	1	NCOA1	2	24905949	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	13140518	24905949	218293424	30	21297											
ASXL2	55252	genome.wustl.edu	37	chr2	26101061	26101061	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcctccgcccaggtccTgcccttcttcctacgtccct	2	10	9	20	3	1	0	0	0	1	0	5	0	5	0	7	3	2	0	7	3	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:26101061T>A	ENST00000435504.4	-	1	324	c.31A>T	c.(31-33)Agg>Tgg	p.R11W	ASXL2_ENST00000336112.4_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	11					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCAGGTCCTGCCCTTCTTC	0.667																																																	0													102	109	107					2																	26101061		1917	4116	6033	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.31A>T	2.37:g.26101061T>A	ENSP00000391447:p.Arg11Trp		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.R11W	ENST00000435504.4	37	c.31		2	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425751	0.62733	.	.	ENSG00000143970	ENST00000435504	T	0.30182	1.54	4.53	4.53	0.55603	.	.	.	.	.	T	0.49133	0.1539	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.50882	-0.8775	9	0.87932	D	0	.	10.5651	0.45167	0.0:0.0:0.0:1.0	.	11	Q76L83	ASXL2_HUMAN	W	11	ENSP00000391447:R11W	ENSP00000391447:R11W	R	-	1	2	ASXL2	25954565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.611000	0.54132	1.802000	0.52723	0.459000	0.35465	AGG	ASXL2	-	NULL	ENSG00000143970		0.667	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	-	0	132	0	T	NM_018263		26101061	-1	tier1	-	no_errors	ENST00000435504	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	A	A	26101061	T	A	26101061	3	1	81	1	0	0	0	0	1	0	0	0	1068	1579	55	5	4324	5	ASXL2	2	26101061	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	1195112	26101061	217098312	31	21298											
APLF	200558	genome.wustl.edu	37	chr2	68765198	68765198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgttcgagtgcccagggCgactcacttcaggatgagtc	9	10	12	10	2	2	1	2	1	0	0	4	4	2	2	1	2	1	1	1	2	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:68765198C>T	ENST00000303795.4	+	7	1170	c.999C>T	c.(997-999)ggC>ggT	p.G333G	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	333					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GTGCCCAGGGCGACTCACTTC	0.423																																																	0													92	86	88					2																	68765198		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.999C>T	2.37:g.68765198C>T			A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.G333	ENST00000303795.4	37	c.999	CCDS1888.1	2																																																																																			APLF	-	NULL	ENSG00000169621		0.423	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	-	0	43	0	C	NM_173545		68765198	1	tier1	-	no_errors	ENST00000303795	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.190	T	T	68765198	C	T	68765198	2	4	81	1	0	0	0	0	0	0	0	1	776	755	27	1		1	APLF	2	68765198	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	42664137	68765198	174434175	32	21299											
INPP4A	3631	genome.wustl.edu	37	chr2	99172091	99172091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagctgctgcagaaggagCggctgcatggcgagggctgt	9	6	17	9	2	0	1	0	0	0	1	0	3	0	2	0	4	5	6	0	4	2	0	rs372335775	byFrequency	TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:99172091C>T	ENST00000523221.1	+	15	1657	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	INPP4A_ENST00000074304.5_Missense_Mutation_p.R553W|INPP4A_ENST00000409016.4_Missense_Mutation_p.R553W|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Missense_Mutation_p.R548W|INPP4A_ENST00000545415.1_Missense_Mutation_p.R553W|INPP4A_ENST00000409540.3_Missense_Mutation_p.R553W			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	553					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCAGAAGGAGCGGCTGCATGG	0.572																																																	0													62	73	69					2																	99172091		2171	4290	6461	SO:0001583	missense	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1657C>T	2.37:g.99172091C>T	ENSP00000427722:p.Arg553Trp		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_dom	p.R553W	ENST00000523221.1	37	c.1657	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714578	0.89112	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14;2.14	5.82	5.82	0.92795	.	0.052462	0.64402	D	0.000001	T	0.43545	0.1252	L	0.51422	1.61	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72075	0.95;0.967;0.976;0.976	T	0.14448	-1.0472	10	0.72032	D	0.01	-17.2061	19.0835	0.93192	0.0:1.0:0.0:0.0	.	553;553;553;548	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	W	553;548;553;553;553;553	ENSP00000386704:R553W;ENSP00000386777:R548W;ENSP00000074304:R553W;ENSP00000442149:R553W;ENSP00000387294:R553W;ENSP00000427722:R553W	ENSP00000074304:R553W	R	+	1	2	INPP4A	98538523	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	4.915000	0.63355	2.767000	0.95098	0.655000	0.94253	CGG	INPP4A	-	NULL	ENSG00000040933		0.572	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	-	0	63	0	C	NM_001566		99172091	1	tier1	-	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	99172091	C	T	99172091	3	4	81	1	0	0	0	0	1	0	0	0	7779	759	27	1	1715	1	INPP4A	2	99172091	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	30406893	99172091	144027282	33	21300											
DPP10	57628	genome.wustl.edu	37	chr2	116594126	116594126	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgggatgccatctaaggaAgaaagcacttaccaggtaac	14	8	10	9	0	1	1	0	0	1	1	1	3	1	3	2	3	4	2	2	3	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:116594126A>C	ENST00000410059.1	+	23	2574	c.2094A>C	c.(2092-2094)gaA>gaC	p.E698D	DPP10_ENST00000393147.2_Missense_Mutation_p.E702D|DPP10_ENST00000409163.1_Missense_Mutation_p.E648D|DPP10_ENST00000310323.8_Missense_Mutation_p.E691D	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	698						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CATCTAAGGAAGAAAGCACTT	0.333																																																	0													109	112	111					2																	116594126		2203	4300	6503	SO:0001583	missense	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.2094A>C	2.37:g.116594126A>C	ENSP00000386565:p.Glu698Asp		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.E702D	ENST00000410059.1	37	c.2106	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	A	4.187	0.033347	0.08101	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.28	2.89	0.33648	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.159508	0.56097	N	0.000040	T	0.11793	0.0287	N	0.10837	0.055	0.39697	D	0.971122	B;B;B;B	0.11235	0.002;0.004;0.003;0.003	B;B;B;B	0.20184	0.008;0.01;0.028;0.013	T	0.12811	-1.0533	10	0.14252	T	0.57	-13.068	0.8169	0.01104	0.4642:0.1586:0.2254:0.1519	.	691;702;694;698	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	D	698;648;702;691	ENSP00000386565:E698D;ENSP00000387038:E648D;ENSP00000376855:E702D;ENSP00000309066:E691D	ENSP00000309066:E691D	E	+	3	2	DPP10	116310596	0.989000	0.36119	1.000000	0.80357	0.937000	0.57800	0.201000	0.17276	0.450000	0.26774	-0.256000	0.11100	GAA	DPP10	-	pfam_Peptidase_S9	ENSG00000175497		0.333	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	44	0	A	NM_020868		116594126	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	C	C	116594126	A	C	116594126	3	2	81	1	0	0	0	0	1	0	0	0	4741	69	3	4	2355	4	DPP10	2	116594126	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	17422035	116594126	126605247	34	21301											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125204470	125204470	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacaagcacacacagcacTtccgcaccaagggcgagacg	13	3	11	14	3	0	1	0	0	0	1	1	3	1	2	2	2	2	3	2	2	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:125204470T>G	ENST00000431078.1	+	6	1238	c.874T>G	c.(874-876)Ttc>Gtc	p.F292V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	292	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACACAGCACTTCCGCACCAA	0.587																																																	0													113	117	115					2																	125204470		2174	4282	6456	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.874T>G	2.37:g.125204470T>G	ENSP00000399013:p.Phe292Val		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F292V	ENST00000431078.1	37	c.874	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	T	17.82	3.482325	0.63962	.	.	ENSG00000155052	ENST00000431078	T	0.78126	-1.15	5.78	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.53938	D	0.000059	T	0.80363	0.4609	L	0.38692	1.165	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.75654	-0.3243	10	0.20046	T	0.44	.	11.1765	0.48603	0.0:0.0717:0.0:0.9283	.	292	Q8WYK1	CNTP5_HUMAN	V	292	ENSP00000399013:F292V	ENSP00000399013:F292V	F	+	1	0	CNTNAP5	124920940	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.153000	0.71819	1.131000	0.42111	0.533000	0.62120	TTC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.587	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	43	0	T			125204470	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	G	G	125204470	T	G	125204470	3	3	81	1	0	0	0	0	1	0	0	0	3657	1609	56	4	896	4	CNTNAP5	2	125204470	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	8610344	125204470	117994903	35	21302											
NCKAP5	344148	genome.wustl.edu	37	chr2	133540288	133540288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcctcaaaggcaacttacTtgggctcccatgctgactgc	9	10	9	13	0	1	1	1	1	0	0	3	2	3	1	2	2	4	3	2	2	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:133540288T>C	ENST00000409261.1	-	14	4469	c.4096A>G	c.(4096-4098)Agt>Ggt	p.S1366G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1366G|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1366										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGCAACTTACTTGGGCTCCCA	0.632																																																	0													47	48	48					2																	133540288		1935	4140	6075	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4096A>G	2.37:g.133540288T>C	ENSP00000387128:p.Ser1366Gly		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.S1366G	ENST00000409261.1	37	c.4096	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	T	10.18	1.278523	0.23307	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.12255	2.7;2.7	5.5	4.36	0.52297	.	0.144113	0.31221	N	0.008028	T	0.08802	0.0218	N	0.20986	0.625	0.80722	D	1	B	0.18166	0.026	B	0.16289	0.015	T	0.15235	-1.0444	10	0.51188	T	0.08	.	6.1211	0.20154	0.1428:0.0755:0.0:0.7817	.	1366	O14513	NCKP5_HUMAN	G	1366	ENSP00000387128:S1366G;ENSP00000380603:S1366G	ENSP00000380603:S1366G	S	-	1	0	NCKAP5	133256758	0.996000	0.38824	0.995000	0.50966	0.961000	0.63080	1.284000	0.33249	1.104000	0.41587	0.533000	0.62120	AGT	NCKAP5	-	NULL	ENSG00000176771		0.632	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	35	0	T	NM_207481		133540288	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	40.00	9	6	SNP	0.996	C	C	133540288	T	C	133540288	3	2	81	1	0	0	0	0	1	0	0	0	10262	1609	56	4	1661	4	NCKAP5	2	133540288	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	8335818	133540288	109659085	36	21303											
LRP1B	53353	genome.wustl.edu	37	chr2	141130597	141130597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcacagcttttctcaTcttccccatatttgcagtct	6	16	5	14	0	4	0	2	0	3	0	6	0	5	0	2	1	2	3	2	1	1	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:141130597T>C	ENST00000389484.3	-	69	11719	c.10748A>G	c.(10747-10749)gAt>gGt	p.D3583G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3583	LDL-receptor class A 27. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTTTTCTCATCTTCCCCATA	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													217	211	213					2																	141130597		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10748A>G	2.37:g.141130597T>C	ENSP00000374135:p.Asp3583Gly		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D3583G	ENST00000389484.3	37	c.10748	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	31	5.066241	0.93898	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99220	-5.58	5.67	5.67	0.87782	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99674	0.9878	H	0.98155	4.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97338	0.9955	10	0.87932	D	0	.	15.907	0.79439	0.0:0.0:0.0:1.0	.	3583	Q9NZR2	LRP1B_HUMAN	G	3583;3521	ENSP00000374135:D3583G	ENSP00000374135:D3583G	D	-	2	0	LRP1B	140847067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.694000	0.84235	2.164000	0.68074	0.533000	0.62120	GAT	LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	62	0	T	NM_018557		141130597	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	141130597	T	C	141130597	3	2	81	1	0	0	0	0	1	0	0	0	8990	1435	50	4	3143	4	LRP1B	2	141130597	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	7590309	141130597	102068776	37	21304											
TNFAIP6	7130	genome.wustl.edu	37	chr2	152214210	152214210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatttacttatttctcttGctatgggaagacactcaagg	11	16	7	7	0	2	1	1	0	1	1	3	2	2	2	0	2	2	1	0	2	6	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:152214210G>T	ENST00000243347.3	+	1	105	c.30G>T	c.(28-30)ttG>ttT	p.L10F		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	10					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	TATTTCTCTTGCTATGGGAAG	0.408																																																	0													157	150	153					2																	152214210		2203	4300	6503	SO:0001583	missense	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.30G>T	2.37:g.152214210G>T	ENSP00000243347:p.Leu10Phe		Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link	p.L10F	ENST00000243347.3	37	c.30	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687487	0.29962	.	.	ENSG00000123610	ENST00000243347	T	0.19806	2.12	5.71	4.74	0.60224	.	0.312543	0.30791	N	0.008873	T	0.13798	0.0334	N	0.17082	0.46	0.35564	D	0.804963	B	0.02656	0.0	B	0.01281	0.0	T	0.11591	-1.0581	10	0.25106	T	0.35	.	13.9598	0.64172	0.0795:0.0:0.9205:0.0	.	10	P98066	TSG6_HUMAN	F	10	ENSP00000243347:L10F	ENSP00000243347:L10F	L	+	3	2	TNFAIP6	151922456	1.000000	0.71417	0.999000	0.59377	0.516000	0.34256	2.292000	0.43549	1.247000	0.43917	0.650000	0.86243	TTG	TNFAIP6	-	NULL	ENSG00000123610		0.408	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2		0	75	0	G	NM_007115		152214210	1			no_errors	ENST00000243347	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	152214210	G	T	152214210	3	4	81	1	0	0	0	0	1	0	0	0	16322	1310	46	3	32	3	TNFAIP6	2	152214210	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	11083613	152214210	90985163	38	21305											
LRP2	4036	genome.wustl.edu	37	chr2	170048427	170048427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgcaattctgattctcatCgtagccgtcagtacaatcca	10	12	8	11	2	3	1	2	1	2	0	6	1	4	1	2	1	3	3	2	1	4	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:170048427C>T	ENST00000263816.3	-	48	9232	c.8947G>A	c.(8947-8949)Gat>Aat	p.D2983N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2983	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TGATTCTCATCGTAGCCGTCA	0.473																																																	0													97	91	93					2																	170048427		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8947G>A	2.37:g.170048427C>T	ENSP00000263816:p.Asp2983Asn		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D2983N	ENST00000263816.3	37	c.8947	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722723	0.89298	.	.	ENSG00000081479	ENST00000263816	D	0.99214	-5.57	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97860	1.0280	10	0.87932	D	0	.	19.8764	0.96873	0.0:1.0:0.0:0.0	.	2983	P98164	LRP2_HUMAN	N	2983	ENSP00000263816:D2983N	ENSP00000263816:D2983N	D	-	1	0	LRP2	169756673	1.000000	0.71417	0.954000	0.39281	0.208000	0.24298	7.625000	0.83145	2.700000	0.92200	0.650000	0.86243	GAT	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.473	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	70	0	C	NM_004525		170048427	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	T	T	170048427	C	T	170048427	3	4	81	1	0	0	0	0	1	0	0	0	8991	884	31	1	5148	1	LRP2	2	170048427	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	17834217	170048427	73150946	39	21306											
AGPS	8540	genome.wustl.edu	37	chr2	178299116	178299116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatccaaaatacccttggaGtaaatgtggagcataaaact	16	9	9	7	0	0	0	0	0	0	0	1	3	1	3	2	3	3	2	2	3	7	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:178299116G>C	ENST00000264167.4	+	3	558	c.412G>C	c.(412-414)Gta>Cta	p.V138L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	138					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TACCCTTGGAGTAAATGTGGA	0.299																																																	0													73	70	71					2																	178299116		2203	4299	6502	SO:0001583	missense	0			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.412G>C	2.37:g.178299116G>C	ENSP00000264167:p.Val138Leu		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.V138L	ENST00000264167.4	37	c.412	CCDS2275.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.59|12.59	1.982230|1.982230	0.34942|0.34942	.|.	.|.	ENSG00000018510|ENSG00000018510	ENST00000536686|ENST00000264167	.|D	.|0.97209	.|-4.29	5.45|5.45	3.63|3.63	0.41609|0.41609	.|.	.|0.225472	.|0.43919	.|D	.|0.000503	D|D	0.92557|0.92557	0.7636|0.7636	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.08055	.|0.003	D|D	0.88155|0.88155	0.2853|0.2853	6|10	0.21540|0.13108	T|T	0.41|0.6	.|.	12.0681|12.0681	0.53601|0.53601	0.1424:0.0:0.8576:0.0|0.1424:0.0:0.8576:0.0	.|.	.|138	.|O00116	.|ADAS_HUMAN	T|L	8|138	.|ENSP00000264167:V138L	ENSP00000437945:S8T|ENSP00000264167:V138L	S|V	+|+	2|1	0|0	AGPS|AGPS	178007362|178007362	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.983000|0.983000	0.72400|0.72400	4.102000|4.102000	0.57776|0.57776	1.287000|1.287000	0.44583|0.44583	0.650000|0.650000	0.86243|0.86243	AGT|GTA	AGPS	-	NULL	ENSG00000018510		0.299	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	-	0	103	0	G			178299116	1	tier1	-	no_errors	ENST00000264167	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C	C	178299116	G	C	178299116	3	2	81	1	0	0	0	0	1	0	0	0	394	1029	36	5	422	5	AGPS	2	178299116	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	8250689	178299116	64900257	40	21307											
C2orf69	205327	genome.wustl.edu	37	chr2	200790063	200790063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcagaatagtttatcaaaGaaaagtttgaatgtttggaa	17	13	9	2	0	2	3	2	1	0	2	2	4	2	4	0	1	0	3	0	1	8	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:200790063G>C	ENST00000319974.5	+	2	795	c.612G>C	c.(610-612)aaG>aaC	p.K204N	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	204						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GTTTATCAAAGAAAAGTTTGA	0.363																																																	0													52	51	51					2																	200790063		1812	4071	5883	SO:0001583	missense	0				CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"hypothetical protein FLJ38973"					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.612G>C	2.37:g.200790063G>C	ENSP00000312770:p.Lys204Asn		Q8NE30	Missense_Mutation	SNP	pfam_UPF0565	p.K204N	ENST00000319974.5	37	c.612	CCDS46482.1	2	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057536	0.19907	.	.	ENSG00000178074	ENST00000319974	.	.	.	5.3	0.363	0.16118	.	0.341074	0.27991	N	0.017035	T	0.26593	0.0650	L	0.34521	1.04	0.26649	N	0.972138	B	0.24043	0.096	B	0.31390	0.129	T	0.23868	-1.0176	9	0.15499	T	0.54	.	5.8137	0.18479	0.297:0.1346:0.5684:0.0	.	204	Q8N8R5	CB069_HUMAN	N	204	.	ENSP00000312770:K204N	K	+	3	2	C2orf69	200498308	1.000000	0.71417	0.081000	0.20488	0.544000	0.35116	0.866000	0.27954	-0.114000	0.11936	0.655000	0.94253	AAG	C2orf69	-	pfam_UPF0565	ENSG00000178074		0.363	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf69	HGNC	protein_coding	OTTHUMT00000335446.1	-	0	73	0	G	NM_153689		200790063	1	tier1	-	no_errors	ENST00000319974	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.923	C	C	200790063	G	C	200790063	3	2	81	1	0	0	0	0	1	0	0	0	2195	933	33	5	618	5	C2orf69	2	200790063	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	22490947	200790063	42409310	41	21308											
PLEKHM3	389072	genome.wustl.edu	37	chr2	208795838	208795838	+	Frame_Shift_Del	DEL	C	C	-																															agaaactccttggcctgcttCgacacctacaaaacaagcgt																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:208795838delC	ENST00000427836.2	-	5	2187	c.1698delG	c.(1696-1698)tcgfs	p.S566fs	PLEKHM3_ENST00000389247.4_Frame_Shift_Del_p.S566fs|PLEKHM3_ENST00000457206.1_Frame_Shift_Del_p.S566fs	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	566					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCTGCTTCGACACCTACA	0.547																																																	0													57	60	59					2																	208795838		2022	4193	6215	SO:0001589	frameshift_variant	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1698delG	2.37:g.208795838delC	ENSP00000417003:p.Ser566fs		B9EKV2|Q8WW68	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K567fs	ENST00000427836.2	37	c.1698	CCDS42808.1	2																																																																																			PLEKHM3	-	NULL	ENSG00000178385		0.547	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1		0	42	0	C	NM_001080475		208795838	-1	tier1		no_errors	ENST00000427836	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	0.019	-	-	208795838	C	-	208795838	7	5	81	1	0	1	0	1	0	0	0	0	12121	871	31	0	603	0	PLEKHM3	2	208795838	Frame_Shift_Del	DEL	C	TCGA-L5-A8NG-01A-11D-A37C-09	8005775	208795838	34403535	42	21309											
VIL1	7429	genome.wustl.edu	37	chr2	219301231	219301231	+	Frame_Shift_Del	DEL	C	C	-																															ggaagaaaacctggtcatcaCcccccggctctttgagtgtt																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:219301231delC	ENST00000248444.5	+	16	1941	c.1853delC	c.(1852-1854)accfs	p.T618fs	VIL1_ENST00000392114.2_Frame_Shift_Del_p.T307fs	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	618	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGTCATCACCCCCCGGCTC	0.502																																																	0													142	150	147					2																	219301231		2203	4300	6503	SO:0001589	frameshift_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1853delC	2.37:g.219301231delC	ENSP00000248444:p.Thr618fs		B2R9A7|Q53S11|Q96AC8	Frame_Shift_Del	DEL	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.R620fs	ENST00000248444.5	37	c.1853	CCDS2417.1	2																																																																																			VIL1	-	smart_Villin/Gelsolin	ENSG00000127831		0.502	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3		0	59	0	C	NM_007127		219301231	1	tier1		no_errors	ENST00000248444	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.000	-	-	219301231	C	-	219301231	7	5	81	1	0	1	0	1	0	0	0	0	17213	507	18	0	1911	0	VIL1	2	219301231	Frame_Shift_Del	DEL	C	TCGA-L5-A8NG-01A-11D-A37C-09	10505393	219301231	23898142	43	21310											
TRIP12	9320	genome.wustl.edu	37	chr2	230678737	230678737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtacagcaagcagtctGccaaaccaccctaaaatata	16	7	6	12	0	1	0	0	0	1	0	1	0	1	0	3	1	5	3	3	1	8	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:230678737G>A	ENST00000283943.5	-	12	1869	c.1691C>T	c.(1690-1692)gCa>gTa	p.A564V	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.A612V|TRIP12_ENST00000389045.3_Missense_Mutation_p.A267V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	564					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAAGCAGTCTGCCAAACCACC	0.343																																																	0													47	47	47					2																	230678737		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1691C>T	2.37:g.230678737G>A	ENSP00000283943:p.Ala564Val		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.A564V	ENST00000283943.5	37	c.1691	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294686	0.81025	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.35236	1.32;1.32;1.32	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (1);	0.146548	0.64402	D	0.000009	T	0.40119	0.1104	N	0.26042	0.785	0.80722	D	1	P;B;B;B	0.51057	0.941;0.437;0.437;0.437	P;B;B;B	0.49332	0.607;0.097;0.097;0.097	T	0.20107	-1.0285	10	0.66056	D	0.02	.	20.3201	0.98661	0.0:0.0:1.0:0.0	.	570;267;612;564	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	V	564;267;612	ENSP00000283943:A564V;ENSP00000373697:A267V;ENSP00000373696:A612V	ENSP00000283943:A564V	A	-	2	0	TRIP12	230386981	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.827000	0.99397	2.807000	0.96579	0.551000	0.68910	GCA	TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0	67	0	G	NM_004238		230678737	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	A	A	230678737	G	A	230678737	3	1	81	1	0	0	0	0	1	0	0	0	16604	1319	46	3	4407	3	TRIP12	2	230678737	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	11377506	230678737	12520636	44	21311											
ALPP	250	genome.wustl.edu	37	chr2	233243909	233243909	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacatttctgttccttcaGggatgggggtgtctacggtg	6	13	13	9	1	3	0	1	0	2	0	4	1	4	1	1	4	1	1	1	4	1	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:233243909G>A	ENST00000392027.2	+	3	462		c.e3-1		AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental						dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGTTCCTTCAGGGATGGGGGT	0.622																																																	0													81	87	85					2																	233243909		2203	4300	6503	SO:0001630	splice_region_variant	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.194-1G>A	2.37:g.233243909G>A			P05188|P06861|Q53S78|Q96DB7	Splice_Site	SNP	-	e3-1	ENST00000392027.2	37	c.194-1	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	g	14.14	2.445421	0.43429	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.47	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3571	0.60633	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALPP	232952153	1.000000	0.71417	0.975000	0.42487	0.658000	0.38924	7.227000	0.78070	1.379000	0.46325	0.298000	0.19748	.	ALPP	-	-	ENSG00000163283		0.622	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	-	0	92	0	G	NM_001632	Intron	233243909	1	tier1	rs150492331	no_errors	ENST00000392027	ensembl	human	known	74_37	splice_site	20.00	28	7	SNP	1.000	A	A	233243909	G	A	233243909	5	1	81	1	0	0	0	0	0	0	1	0	548	1014	35	3	203	3	ALPP	2	233243909	Splice_Site	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2565172	233243909	9955464	45	21312											
INPP5D	3635	genome.wustl.edu	37	chr2	234094499	234094499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaacaggttttgtcaaGagtcaggaaggagaaaatga	15	8	11	7	0	2	3	2	1	0	2	3	5	3	4	2	3	1	1	2	3	5	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr2:234094499G>T	ENST00000359570.5	+	23	2250	c.2250G>T	c.(2248-2250)aaG>aaT	p.K750N	INPP5D_ENST00000455936.2_Missense_Mutation_p.K514N|INPP5D_ENST00000450745.1_Missense_Mutation_p.K514N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	762					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTTTTGTCAAGAGTCAGGAAG	0.488																																					NSCLC(82;1215 1426 16163 20348 41018)												0													70	72	71					2																	234094499		1879	4105	5984	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"SH2 domain containing"	6079	protein-coding gene	gene with protein product		601582	"inositol polyphosphate-5-phosphatase, 145kD"			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2250G>T	2.37:g.234094499G>T	ENSP00000352575:p.Lys750Asn		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.K750N	ENST00000359570.5	37	c.2250		2	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856835	0.71834	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.97232	-4.25;-4.3;-4.3;-4.28;-4.28;-4.28	5.45	4.56	0.56223	.	0.146857	0.64402	D	0.000012	D	0.97885	0.9305	.	.	.	0.38152	D	0.938761	D;D	0.62365	0.991;0.985	P;P	0.61275	0.886;0.773	D	0.98871	1.0766	9	0.44086	T	0.13	.	14.6361	0.68692	0.0705:0.0:0.9295:0.0	.	761;762	Q92835-2;Q92835	.;SHIP1_HUMAN	N	750;514;514;383;383;383	ENSP00000352575:K750N;ENSP00000407916:K514N;ENSP00000404610:K514N;ENSP00000400151:K383N;ENSP00000397421:K383N;ENSP00000405338:K383N	ENSP00000352575:K750N	K	+	3	2	INPP5D	233759238	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.020000	0.57189	1.282000	0.44496	0.650000	0.86243	AAG	INPP5D	-	NULL	ENSG00000168918		0.488	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		-	0	77	0	G	NM_001017915		234094499	1	tier1	-	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	234094499	G	T	234094499	3	4	81	1	0	0	0	0	1	0	0	0	7783	933	33	3	1876	3	INPP5D	2	234094499	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	850590	234094499	9104874	46	21313											
CNTN6	27255	genome.wustl.edu	37	chr3	1425020	1425020	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctctccagagtttttcTgcttctgaaatggaggtttc	7	17	8	9	0	3	2	0	1	3	1	6	3	4	3	1	2	1	3	1	2	1	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:1425020T>C	ENST00000446702.2	+	19	3072	c.2445T>C	c.(2443-2445)tcT>tcC	p.S815S	CNTN6_ENST00000539053.1_Silent_p.S743S|CNTN6_ENST00000350110.2_Silent_p.S815S			Q9UQ52	CNTN6_HUMAN	contactin 6	815	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGAGTTTTTCTGCTTCTGAAA	0.423																																																	0													189	198	195					3																	1425020		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2445T>C	3.37:g.1425020T>C			Q2KHM2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S815	ENST00000446702.2	37	c.2445	CCDS2557.1	3																																																																																			CNTN6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134115		0.423	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0	91	0	T	NM_014461		1425020	1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.932	C	C	1425020	T	C	1425020	2	2	81	1	0	0	0	0	0	0	0	1	3652	1567	55	4		4	CNTN6	3	1425020	Silent	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09		1425020	196597410	47	21314											
CRELD1	78987	genome.wustl.edu	37	chr3	9979713	9979713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcagcaggaggcccCggacctcttccagtggctgt	6	7	13	15	1	2	0	1	0	1	0	3	2	3	2	5	5	1	3	5	5	0	1	rs2302787	byFrequency	TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:9979713C>T	ENST00000383811.3	+	4	982	c.383C>T	c.(382-384)cCg>cTg	p.P128L	CRELD1_ENST00000326434.5_Missense_Mutation_p.P128L|CRELD1_ENST00000397170.3_Missense_Mutation_p.P128L|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_Missense_Mutation_p.P128L	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	128			P -> R (in dbSNP:rs2302787).		cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGGAGGCCCCGGACCTCTTC	0.607																																																	0													30	33	32					3																	9979713		2203	4300	6503	SO:0001583	missense	0			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"atrioventricular septal defect 2"	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.383C>T	3.37:g.9979713C>T	ENSP00000373322:p.Pro128Leu		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P128L	ENST00000383811.3	37	c.383	CCDS2593.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608983	0.87258	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.22	5.22	0.72569	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.62732	0.2452	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65372	-0.6184	9	.	.	.	-6.6884	16.2719	0.82626	0.0:1.0:0.0:0.0	.	128;128	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	L	128	ENSP00000380355:P128L;ENSP00000373322:P128L;ENSP00000393643:P128L;ENSP00000321856:P128L	.	P	+	2	0	CRELD1	9954713	1.000000	0.71417	0.953000	0.39169	0.788000	0.44548	7.458000	0.80787	2.434000	0.82447	0.561000	0.74099	CCG	CRELD1	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000163703		0.607	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRELD1	HGNC	protein_coding	OTTHUMT00000250533.1	-	0	54	0	C	NM_015513		9979713	1	tier1	-	no_errors	ENST00000326434	ensembl	human	known	74_37	missense	46.88	17	15	SNP	0.999	T	T	9979713	C	T	9979713	3	4	81	1	0	0	0	0	1	0	0	0	3873	652	23	1	397	1	CRELD1	3	9979713	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	8554693	9979713	188042717	48	21315											
EFHB	151651	genome.wustl.edu	37	chr3	19975259	19975259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcctaaactacccctctgCatgacagtcctagaaatatt	13	11	4	13	0	1	2	0	1	1	1	3	2	3	2	4	0	3	1	4	0	6	5	rs374241010		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:19975259C>A	ENST00000295824.9	-	1	413	c.252G>T	c.(250-252)atG>atT	p.M84I	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	84							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TACCCCTCTGCATGACAGTCC	0.443																																																	0								C	ILE/MET	0,3916		0,0,1958	154	148	150		252	-0.7	0	3		150	1,8311		0,1,4155	no	missense	EFHB	NM_144715.3	10	0,1,6113	AA,AC,CC		0.012,0.0,0.0082	benign	84/834	19975259	1,12227	1958	4156	6114	SO:0001583	missense	0			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"EF-hand domain containing"	26330	protein-coding gene	gene with protein product	"cilia and flagella associated protein 21"					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.252G>T	3.37:g.19975259C>A	ENSP00000295824:p.Met84Ile		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.M84I	ENST00000295824.9	37	c.252	CCDS33715.2	3	.	.	.	.	.	.	.	.	.	.	C	4.839	0.155961	0.09236	0.0	1.2E-4	ENSG00000163576	ENST00000295824;ENST00000389256	T;T	0.23754	1.89;2.19	3.6	-0.723	0.11181	.	.	.	.	.	T	0.16085	0.0387	L	0.40543	1.245	0.09310	N	1	B	0.22604	0.072	B	0.12156	0.007	T	0.27872	-1.0061	8	.	.	.	0.0767	4.1208	0.10104	0.0:0.3828:0.389:0.2283	.	84	Q8N7U6	EFHB_HUMAN	I	84	ENSP00000295824:M84I;ENSP00000373908:M84I	.	M	-	3	0	EFHB	19950263	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.189000	0.09629	-0.151000	0.11176	0.555000	0.69702	ATG	EFHB	-	NULL	ENSG00000163576		0.443	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000318673.2		0	82	0	C	NM_144715		19975259	-1			no_errors	ENST00000295824	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.000	A	A	19975259	C	A	19975259	3	1	81	1	0	0	0	0	1	0	0	0	4959	710	25	3	2301	3	EFHB	3	19975259	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	9995546	19975259	178047171	49	21316											
CLASP2	23122	genome.wustl.edu	37	chr3	33543245	33543245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctttccgaacactgctctCtgaattatcataaccctacg	11	12	5	13	2	2	1	1	1	1	0	4	2	3	1	2	0	5	2	2	0	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:33543245C>G	ENST00000468888.2	-	38	4403	c.4357G>C	c.(4357-4359)Gag>Cag	p.E1453Q	CLASP2_ENST00000359576.5_Missense_Mutation_p.E1444Q|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1212Q|CLASP2_ENST00000307312.7_Missense_Mutation_p.E934Q|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1232Q|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000399362.4_Missense_Mutation_p.E1452Q			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	1233					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACACTGCTCTCTGAATTATCA	0.448																																																	0													132	121	125					3																	33543245		1921	4135	6056	SO:0001583	missense	0			AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.4357G>C	3.37:g.33543245C>G	ENSP00000419974:p.Glu1453Gln		Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E1452Q	ENST00000468888.2	37	c.4354		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.086723|5.086723	0.94100|0.94100	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000480013;ENST00000461133|ENST00000487553	T;T;T;T;T;T|.	0.67345|.	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59473|0.59473	0.2196|0.2196	L|L	0.33189|0.33189	0.99|0.99	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.91635|.	0.994;0.999|.	T|T	0.52931|0.52931	-0.8509|-0.8509	10|5	0.29301|.	T|.	0.29|.	-20.2089|-20.2089	18.0216|18.0216	0.89257|0.89257	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1444;1452|.	F5H604;E7ERI8|.	.;.|.	Q|T	1453;1452;1444;934;1232;1212|158	ENSP00000419974:E1453Q;ENSP00000382297:E1452Q;ENSP00000352581:E1444Q;ENSP00000304743:E934Q;ENSP00000417518:E1232Q;ENSP00000419305:E1212Q|.	ENSP00000304743:E934Q|.	E|R	-|-	1|2	0|0	CLASP2|CLASP2	33518249|33518249	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.965000|0.965000	0.64279|0.64279	7.506000|7.506000	0.81665|0.81665	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAG|AGA	CLASP2	-	superfamily_ARM-type_fold	ENSG00000163539		0.448	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CLASP2	HGNC	protein_coding	OTTHUMT00000344320.4		0	44	0	C	NM_001207044		33543245	-1			no_errors	ENST00000399362	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	G	G	33543245	C	G	33543245	3	3	81	1	0	0	0	0	1	0	0	0	3462	922	32	5	195	5	CLASP2	3	33543245	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	13567986	33543245	164479185	50	21317											
LAMB2	3913	genome.wustl.edu	37	chr3	49168865	49168865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcagggtccagcacaCgatagatgacctggagaagc	12	5	15	9	1	0	3	0	1	0	2	1	6	1	4	2	4	2	2	2	4	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:49168865C>T	ENST00000418109.1	-	7	823	c.659G>A	c.(658-660)cGt>cAt	p.R220H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R220H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	220	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTCCAGCACACGATAGATGAC	0.602																																																	0													118	110	113					3																	49168865		2203	4300	6503	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.659G>A	3.37:g.49168865C>T	ENSP00000388325:p.Arg220His		Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.R220H	ENST00000418109.1	37	c.659	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	c	19.73	3.882837	0.72410	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.77620	-1.11;-1.11;-1.11	4.88	4.88	0.63580	Laminin, N-terminal (3);	0.175345	0.38492	N	0.001672	D	0.88987	0.6587	M	0.86805	2.84	0.44485	D	0.997428	D	0.76494	0.999	D	0.67900	0.954	D	0.89767	0.3951	10	0.48119	T	0.1	.	17.8259	0.88665	0.0:1.0:0.0:0.0	.	220	P55268	LAMB2_HUMAN	H	220;220;71	ENSP00000388325:R220H;ENSP00000307156:R220H;ENSP00000444751:R71H	ENSP00000307156:R220H	R	-	2	0	LAMB2	49143869	0.963000	0.33076	1.000000	0.80357	0.981000	0.71138	2.605000	0.46283	2.541000	0.85698	0.651000	0.88453	CGT	LAMB2	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000172037		0.602	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	-	0	51	0	C	NM_002292		49168865	-1	tier1	-	no_errors	ENST00000305544	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	49168865	C	T	49168865	3	4	81	1	0	0	0	0	1	0	0	0	8639	536	19	1	4845	1	LAMB2	3	49168865	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	15625620	49168865	148853565	51	21318											
DNAH12	201625	genome.wustl.edu	37	chr3	57357587	57357587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttgtcaaatcaaatggtgGaggctctacaaactttttcc	11	14	7	9	0	3	0	2	0	1	0	4	1	4	1	1	3	2	1	1	3	4	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:57357587G>T	ENST00000351747.2	-	48	7615	c.7435C>A	c.(7435-7437)Cca>Aca	p.P2479T	DNAH12_ENST00000344804.4_Missense_Mutation_p.P112T	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2479	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCAAATGGTGGAGGCTCTACA	0.368																																																	0													237	210	218					3																	57357587		692	1590	2282	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.7435C>A	3.37:g.57357587G>T	ENSP00000295937:p.Pro2479Thr		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P2479T	ENST00000351747.2	37	c.7435		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.069598|5.069598	0.93950|0.93950	.|.	.|.	ENSG00000174844|ENSG00000174844	ENST00000351747;ENST00000466540;ENST00000344804|ENST00000462199	T;T;T|.	0.08193|.	3.12;3.12;3.12|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Dynein heavy chain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84028|0.84028	0.5382|0.5382	M|M	0.85777|0.85777	2.775|2.775	0.47276|0.47276	D|D	0.999375|0.999375	D;D|.	0.69078|.	0.969;0.997|.	P;D|.	0.77004|.	0.749;0.989|.	D|D	0.83925|0.83925	0.0303|0.0303	10|5	0.72032|.	D|.	0.01|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	112;2479|.	Q6ZR08-2;Q6ZR08|.	.;DYH12_HUMAN|.	T|Y	2479;170;112|169	ENSP00000295937:P2479T;ENSP00000420359:P170T;ENSP00000340464:P112T|.	ENSP00000340464:P112T|.	P|S	-|-	1|2	0|0	DNAH12|DNAH12	57332627|57332627	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.710000|9.710000	0.98732|0.98732	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CCA|TCC	DNAH12	-	pfam_Dynein_heavy_dom	ENSG00000174844		0.368	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		-	0	110	0	G	NM_178504		57357587	-1	tier1	-	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	57357587	G	T	57357587	3	4	81	1	0	0	0	0	1	0	0	0	4614	1174	41	3	1891	3	DNAH12	3	57357587	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	8188722	57357587	140664843	52	21319											
PARP14	54625	genome.wustl.edu	37	chr3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A																															ctctgttttgcaggagtgtgINSaaaaaaaaaattactcatcc																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																																	0																																										SO:0001589	frameshift_variant	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.N1322fs	ENST00000474629.2	37	c.3955_3956	CCDS46894.1	3																																																																																			PARP14	-	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	ENSG00000173193		0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2		0	70	0	-	NM_017554		122433232	1	tier1		no_errors	ENST00000474629	ensembl	human	known	74_37	frame_shift_ins	6.25	30	2	INS	1.000:0.974	A	A	122433232	-	A	122433231	7	5	81	1	0	1	1	0	0	0	0	0	11497	1291	45	0	4001	0	PARP14	3	122433231	Frame_Shift_Ins	INS	-	TCGA-L5-A8NG-01A-11D-A37C-09	65075644	122433231	75589199	53	21320											
COL6A6	131873	genome.wustl.edu	37	chr3	130287171	130287171	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgccctgagctttgtGtctcagtacttcagccccac	6	12	10	13	0	2	1	2	1	1	0	3	1	2	1	3	1	4	3	3	1	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:130287171G>T	ENST00000358511.6	+	5	2155	c.2124G>T	c.(2122-2124)gtG>gtT	p.V708V	COL6A6_ENST00000453409.2_Silent_p.V708V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	708	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGCTTTGTGTCTCAGTACT	0.498																																																	0													99	101	101					3																	130287171		1955	4133	6088	SO:0001819	synonymous_variant	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"Collagens"	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2124G>T	3.37:g.130287171G>T			A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V708	ENST00000358511.6	37	c.2124	CCDS46911.1	3																																																																																			COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0	45	0	G	NM_001102608		130287171	1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	silent	15.00	17	3	SNP	0.909	T	T	130287171	G	T	130287171	2	4	81	1	0	0	0	0	0	0	0	1	3710	1364	48	3		3	COL6A6	3	130287171	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	7853940	130287171	67735259	54	21321											
ARPM1	84517	genome.wustl.edu	37	chr3	169485221	169485221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaccattttatctgtatttCagaagcatctttggtgtact	10	17	6	8	0	3	1	1	0	2	1	3	1	3	1	1	1	3	3	1	1	5	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr3:169485221C>T	ENST00000330368.2	-	2	1492	c.1118G>A	c.(1117-1119)tGa>tAa	p.*373*	TERC_ENST00000602385.1_lincRNA|RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	0						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											ATCTGTATTTCAGAAGCATCT	0.368																																																	0													65	65	65					3																	169485221		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"actin related protein M1"	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.1118G>A	3.37:g.169485221C>T			Q96IS0|Q96NJ0	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.*373	ENST00000330368.2	37	c.1118	CCDS3206.1	3																																																																																			ACTRT3	-	NULL	ENSG00000184378		0.368	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	HGNC	protein_coding	OTTHUMT00000467797.1	-	0	29	0	C	NM_032487		169485221	-1	tier1	-	no_errors	ENST00000330368	ensembl	human	known	74_37	silent	33.33	8	4	SNP	1.000	T	T	169485221	C	T	169485221	2	4	81	1	0	0	0	0	0	0	0	1	977	837	29	3		3	ARPM1	3	169485221	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	39198050	169485221	28537209	55	21322											
CCDC149	91050	genome.wustl.edu	37	chr4	24839867	24839867	+	Frame_Shift_Del	DEL	T	T	-																															gattgcttcgtctccgagccTttgtttggcaatcgtcatcc																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:24839867delT	ENST00000389609.4	-	6	543	c.400delA	c.(400-402)aggfs	p.R134fs	CCDC149_ENST00000502801.1_Intron|CCDC149_ENST00000504487.1_Frame_Shift_Del_p.R134fs|CCDC149_ENST00000428116.2_Intron	NM_173463.4	NP_775734.2	Q6ZUS6	CC149_HUMAN	coiled-coil domain containing 149	79										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				TCTCCGAGCCTTTGTTTGGCA	0.463																																																	0													118	103	108					4																	24839867		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS33967.1, CCDS47036.1, CCDS33967.2	4p15.2	2008-03-03				ENSG00000181982			25405	protein-coding gene	gene with protein product						17457313	Standard	NM_173463		Approved	DKFZp761B107	uc003grc.3	Q6ZUS6		ENST00000389609.4:c.400delA	4.37:g.24839867delT	ENSP00000374260:p.Arg134fs		A6NJE7|B4DK90|B4DZG3|G5EA04|Q6NW41|Q8N3K8	Frame_Shift_Del	DEL	pfam_Coiled-coil_dom-contain_pr_149	p.R134fs	ENST00000389609.4	37	c.400	CCDS33967.2	4																																																																																			CCDC149	-	pfam_Coiled-coil_dom-contain_pr_149	ENSG00000181982		0.463	CCDC149-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CCDC149	HGNC	protein_coding	OTTHUMT00000360157.1		0	55	0	T	NM_173463		24839867	-1	tier1		no_errors	ENST00000504487	ensembl	human	known	74_37	frame_shift_del	16.67	10	2	DEL	0.999	-	-	24839867	T	-	24839867	7	5	81	1	0	1	0	1	0	0	0	0	2790	1608	56	0	1225	0	CCDC149	4	24839867	Frame_Shift_Del	DEL	T	TCGA-L5-A8NG-01A-11D-A37C-09		24839867	166314409	56	21323											
KLF3	51274	genome.wustl.edu	37	chr4	38696528	38696528	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacagaagaacacacacagGtaatagaaacaccagaccca	21	2	6	12	0	0	4	0	0	0	4	0	4	0	4	2	1	2	1	2	1	5	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:38696528G>T	ENST00000261438.5	+	5	1161		c.e5+1			NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)						cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACACACACAGGTAATAGAAAC	0.393																																																	0													96	85	88					4																	38696528		2203	4300	6503	SO:0001630	splice_region_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.856+1G>T	4.37:g.38696528G>T			Q6PIR1|Q86TN0|Q9P2X6	Splice_Site	SNP	-	e4+1	ENST00000261438.5	37	c.856+1	CCDS3444.1	4	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703761	0.88924	.	.	ENSG00000109787	ENST00000261438	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLF3	38372923	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	.	KLF3	-	-	ENSG00000109787		0.393	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	-	0	83	0	G		Intron	38696528	1	tier1	-	no_errors	ENST00000261438	ensembl	human	known	74_37	splice_site	15.38	22	4	SNP	1.000	T	T	38696528	G	T	38696528	5	4	81	1	0	0	0	0	0	0	1	0	8374	1275	44	3	871	3	KLF3	4	38696528	Splice_Site	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	13856661	38696528	152457748	57	21324											
ATP8A1	10396	genome.wustl.edu	37	chr4	42467002	42467002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtctgtatcatgctgaCatcatttgctccatcaccga	8	13	7	13	2	4	1	3	1	1	0	5	2	5	1	2	0	2	4	2	0	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:42467002C>T	ENST00000381668.5	-	26	2647	c.2416G>A	c.(2416-2418)Gtc>Atc	p.V806I	ATP8A1_ENST00000264449.10_Missense_Mutation_p.V791I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	806					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATCATGCTGACATCATTTGCT	0.453																																																	0													183	150	161					4																	42467002		2203	4300	6503	SO:0001583	missense	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2416G>A	4.37:g.42467002C>T	ENSP00000371084:p.Val806Ile		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V806I	ENST00000381668.5	37	c.2416	CCDS3466.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128832	0.77549	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.76448	-1.02;-1.02	5.38	4.54	0.55810	HAD-like domain (2);	0.077115	0.51477	N	0.000081	D	0.87358	0.6157	M	0.81497	2.545	0.80722	D	1	P;D;D	0.64830	0.951;0.994;0.994	P;D;D	0.67900	0.863;0.954;0.954	D	0.88841	0.3312	10	0.62326	D	0.03	.	14.4066	0.67086	0.0:0.9284:0.0:0.0716	.	791;806;798	Q32M35;Q9Y2Q0;E7EUK4	.;AT8A1_HUMAN;.	I	806;791	ENSP00000371084:V806I;ENSP00000264449:V791I	ENSP00000264449:V791I	V	-	1	0	ATP8A1	42161759	1.000000	0.71417	0.970000	0.41538	0.617000	0.37484	5.959000	0.70339	1.409000	0.46915	0.585000	0.79938	GTC	ATP8A1	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000124406		0.453	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	52	0	C	NM_006095		42467002	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	42467002	C	T	42467002	3	4	81	1	0	0	0	0	1	0	0	0	1193	478	17	3	1126	3	ATP8A1	4	42467002	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	3770474	42467002	148687274	58	21325											
KIT	3815	genome.wustl.edu	37	chr4	55592080	55592080	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaactcatctgggccaccGtttggaaagctagtggttca	10	11	10	10	1	3	0	2	0	1	0	3	1	3	1	2	3	2	3	2	3	4	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:55592080G>T	ENST00000288135.5	+	9	1501	c.1404G>T	c.(1402-1404)ccG>ccT	p.P468P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	468	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P468P(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCACCGTTTGGAAAGC	0.453		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	1	Substitution - coding silent(1)	central_nervous_system(1)											111	101	104					4																	55592080		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1404G>T	4.37:g.55592080G>T			B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P468	ENST00000288135.5	37	c.1404	CCDS3496.1	4																																																																																			KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000157404		0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	43	0	G			55592080	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.004	T	T	55592080	G	T	55592080	2	4	81	1	0	0	0	0	0	0	0	1	8356	1132	40	2		2	KIT	4	55592080	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	13125078	55592080	135562196	59	21326											
KLHL8	57563	genome.wustl.edu	37	chr4	88085157	88085157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgggagtagtaagtgctgCcacataatcccacttgttgc	9	12	10	10	0	1	0	0	0	1	0	2	1	2	1	2	1	3	4	2	1	3	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:88085157C>A	ENST00000273963.5	-	9	1953	c.1612G>T	c.(1612-1614)Gca>Tca	p.A538S	KLHL8_ENST00000425278.2_Missense_Mutation_p.A355S|KLHL8_ENST00000545252.1_Missense_Mutation_p.A187S|KLHL8_ENST00000498875.2_Missense_Mutation_p.A462S|KLHL8_ENST00000512111.1_Missense_Mutation_p.A538S	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	538					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GTAAGTGCTGCCACATAATCC	0.418																																																	0													118	114	115					4																	88085157		2203	4300	6503	SO:0001583	missense	0			AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"Kelch-like", "BTB/POZ domain containing"	18644	protein-coding gene	gene with protein product		611967	"kelch-like 8 (Drosophila)"				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1612G>T	4.37:g.88085157C>A	ENSP00000273963:p.Ala538Ser		Q53XA3|Q6N018	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A538S	ENST00000273963.5	37	c.1612	CCDS3617.1	4	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601601	0.46423	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.53	5.53	0.82687	Galactose oxidase, beta-propeller (1);	0.173187	0.51477	D	0.000085	T	0.71221	0.3314	L	0.41492	1.28	0.44221	D	0.997055	B;B;B	0.17465	0.022;0.013;0.019	B;B;B	0.19946	0.027;0.012;0.026	T	0.67413	-0.5677	10	0.49607	T	0.09	.	14.3079	0.66395	0.1485:0.8515:0.0:0.0	.	355;462;538	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	S	538;462;355;187;538	ENSP00000273963:A538S;ENSP00000426451:A462S;ENSP00000408854:A355S;ENSP00000439514:A187S;ENSP00000424131:A538S	ENSP00000273963:A538S	A	-	1	0	KLHL8	88304181	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.832000	0.48152	2.583000	0.87209	0.563000	0.77884	GCA	KLHL8	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000145332		0.418	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL8	HGNC	protein_coding	OTTHUMT00000253040.1		0	69	0	C			88085157	-1			no_errors	ENST00000273963	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	88085157	C	A	88085157	3	1	81	1	0	0	0	0	1	0	0	0	8422	739	26	3	258	3	KLHL8	4	88085157	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	32493077	88085157	103069119	60	21327											
FAM13A	10144	genome.wustl.edu	37	chr4	89708959	89708959	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggcggcggcgctgtcTggcagatgtggcagaagatg	7	7	19	8	3	1	3	0	0	1	3	1	4	1	4	0	6	0	3	0	6	1	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:89708959T>A	ENST00000264344.5	-	10	1423	c.1216A>T	c.(1216-1218)Aga>Tga	p.R406*	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.R52*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.R80*|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.R80*|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.R66*|FAM13A_ENST00000511976.1_Intron	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	406					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CGGCGCTGTCTGGCAGATGTG	0.453																																																	0													87	90	89					4																	89708959		2203	4300	6503	SO:0001587	stop_gained	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1216A>T	4.37:g.89708959T>A	ENSP00000264344:p.Arg406*		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R406*	ENST00000264344.5	37	c.1216	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	T	35	5.414349	0.96092	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	.	.	.	5.0	2.53	0.30540	.	0.450164	0.23541	N	0.047077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3318	0.32191	0.1309:0.0:0.1373:0.7319	.	.	.	.	X	80;406;66;80;52	.	ENSP00000264344:R406X	R	-	1	2	FAM13A	89927982	1.000000	0.71417	0.040000	0.18447	0.034000	0.12701	1.722000	0.38042	0.458000	0.26988	0.533000	0.62120	AGA	FAM13A	-	NULL	ENSG00000138640		0.453	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	-	0	44	0	T			89708959	-1	tier1	-	no_errors	ENST00000264344	ensembl	human	known	74_37	nonsense	14.29	24	4	SNP	0.994	A	A	89708959	T	A	89708959	4	1	81	1	0	0	0	0	0	1	0	0	5471	1588	55	5	1915	5	FAM13A	4	89708959	Nonsense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	1623802	89708959	101445317	61	21328											
PDHA2	5161	genome.wustl.edu	37	chr4	96761931	96761931	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagctttcaatatggcagcTttatggaaattaccttgtgt	11	15	9	6	0	1	0	1	0	0	0	1	2	1	1	1	2	3	3	1	2	6	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:96761931T>C	ENST00000295266.4	+	1	693	c.630T>C	c.(628-630)gcT>gcC	p.A210A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	210					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATATGGCAGCTTTATGGAAAT	0.438																																																	0													57	62	60					4																	96761931		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.630T>C	4.37:g.96761931T>C			B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.A210	ENST00000295266.4	37	c.630	CCDS3644.1	4																																																																																			PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.438	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0	77	0	T			96761931	1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	silent	19.35	24	6	SNP	0.927	C	C	96761931	T	C	96761931	2	2	81	1	0	0	0	0	0	0	0	1	11704	1596	56	4		4	PDHA2	4	96761931	Silent	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	7052972	96761931	94392345	62	21329											
CCDC109B	55013	genome.wustl.edu	37	chr4	110606475	110606475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagaaatcaaagcaacaGcactttgatgtgcagcaata	18	7	7	9	0	1	2	1	1	0	1	1	2	1	2	0	0	5	4	0	0	6	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:110606475G>A	ENST00000394650.4	+	7	1018	c.885G>A	c.(883-885)caG>caA	p.Q295Q		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	295					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAAAGCAACAGCACTTTGATG	0.353																																																	0													96	99	98					4																	110606475		2203	4300	6503	SO:0001819	synonymous_variant	0			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.885G>A	4.37:g.110606475G>A			A8K4Y3|Q6IAC1	Silent	SNP	pfam_Coiled-coil-dom_prot_109_C	p.Q295	ENST00000394650.4	37	c.885	CCDS3683.2	4																																																																																			CCDC109B	-	pfam_Coiled-coil-dom_prot_109_C	ENSG00000005059		0.353	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC109B	HGNC	protein_coding	OTTHUMT00000254865.1	-	0	46	0	G	NM_017918		110606475	1	tier1	-	no_errors	ENST00000394650	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.000	A	A	110606475	G	A	110606475	2	1	81	1	0	0	0	0	0	0	0	1	2752	962	34	3		3	CCDC109B	4	110606475	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	13844544	110606475	80547801	63	21330											
QRFPR	84109	genome.wustl.edu	37	chr4	122250641	122250641	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattctctctgagggaaaacTttgctttcttccgcatcatt	8	16	7	10	1	4	1	1	1	3	0	6	3	5	2	1	1	2	2	1	1	2	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:122250641T>G	ENST00000394427.2	-	6	1535	c.1124A>C	c.(1123-1125)aAg>aCg	p.K375T	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	375					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GAGGGAAAACTTTGCTTTCTT	0.393																																																	0													209	208	208					4																	122250641		2203	4300	6503	SO:0001583	missense	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"GPCR / Class A : RF amide peptide receptors"	15565	protein-coding gene	gene with protein product		606925	"G protein-coupled receptor 103"	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1124A>C	4.37:g.122250641T>G	ENSP00000377948:p.Lys375Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.K375T	ENST00000394427.2	37	c.1124	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287030	0.23478	.	.	ENSG00000186867	ENST00000394427	T	0.72505	-0.66	5.02	-8.06	0.01102	.	1.019980	0.07789	N	0.954622	T	0.44117	0.1278	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	10	0.21540	T	0.41	.	2.5389	0.04721	0.1023:0.2181:0.3277:0.3519	.	375	Q96P65	QRFPR_HUMAN	T	375	ENSP00000377948:K375T	ENSP00000377948:K375T	K	-	2	0	QRFPR	122470091	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.508000	0.02266	-1.419000	0.02012	-0.619000	0.04042	AAG	QRFPR	-	NULL	ENSG00000186867		0.393	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0	65	0	T	NM_198179		122250641	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	missense	46.43	15	13	SNP	0.000	G	G	122250641	T	G	122250641	3	3	81	1	0	0	0	0	1	0	0	0	12923	1609	56	4	175	4	QRFPR	4	122250641	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	11644166	122250641	68903635	64	21331											
CTSO	1519	genome.wustl.edu	37	chr4	156849542	156849542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatctactccccaagaacTtccccaggaattccgcacaa	13	7	4	17	1	1	1	0	0	1	1	4	2	4	2	6	1	2	1	6	1	5	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:156849542T>C	ENST00000433477.3	-	7	946	c.877A>G	c.(877-879)Agt>Ggt	p.S293G		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	300					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.S293R(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCCAAGAACTTCCCCAGGAA	0.348																																					Pancreas(148;2303 2598 8989 35298)												1	Substitution - Missense(1)	large_intestine(1)											106	98	101					4																	156849542		2203	4300	6503	SO:0001583	missense	0			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"Cathepsins"	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.877A>G	4.37:g.156849542T>C	ENSP00000414904:p.Ser293Gly		Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.S293G	ENST00000433477.3	37	c.877	CCDS3794.1	4	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393693	0.25205	.	.	ENSG00000256043	ENST00000433477	T	0.31769	1.48	5.56	-0.299	0.12808	Peptidase C1A, papain C-terminal (2);	0.465751	0.23985	N	0.042635	T	0.28366	0.0701	L	0.61036	1.89	0.09310	N	1	P	0.37688	0.605	B	0.39771	0.309	T	0.14090	-1.0485	10	0.48119	T	0.1	.	7.418	0.27055	0.2062:0.0:0.4102:0.3836	.	293	P43234	CATO_HUMAN	G	293	ENSP00000414904:S293G	ENSP00000281527:S293G	S	-	1	0	CTSO	157068992	0.012000	0.17670	0.015000	0.15790	0.785000	0.44390	1.887000	0.39698	0.038000	0.15604	0.528000	0.53228	AGT	CTSO	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000256043		0.348	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSO	HGNC	protein_coding	OTTHUMT00000366469.1	-	0	105	0	T	NM_001334		156849542	-1	tier1	-	no_errors	ENST00000433477	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.007	C	C	156849542	T	C	156849542	3	2	81	1	0	0	0	0	1	0	0	0	4049	1609	56	4	96	4	CTSO	4	156849542	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	34598901	156849542	34304734	65	21332											
FAM198B	51313	genome.wustl.edu	37	chr4	159091900	159091900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccaggagggggcgctctCgctgtagatcctaatgttgc	7	9	14	11	2	1	1	0	0	1	1	3	2	2	2	2	3	2	4	2	3	2	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:159091900C>T	ENST00000296530.8	-	2	1249	c.628G>A	c.(628-630)Gag>Aag	p.E210K	FAM198B_ENST00000585682.1_Missense_Mutation_p.E210K|FAM198B_ENST00000393807.5_Missense_Mutation_p.E210K|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000592057.1_Missense_Mutation_p.E210K|RP11-597D13.9_ENST00000514381.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	210						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GGGGCGCTCTCGCTGTAGATC	0.652											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													54	59	57					4																	159091900		2203	4300	6503	SO:0001583	missense	0				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 18"	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.628G>A	4.37:g.159091900C>T	ENSP00000296530:p.Glu210Lys	1798	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Missense_Mutation	SNP	NULL	p.E210K	ENST00000296530.8	37	c.628	CCDS3798.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054540	0.75960	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	T;T	0.31769	1.48;1.48	4.93	4.93	0.64822	.	0.314529	0.35349	N	0.003272	T	0.45418	0.1341	L	0.55834	1.745	0.36835	D	0.88708	D;D;D	0.89917	1.0;0.993;0.991	D;B;P	0.63488	0.915;0.399;0.526	T	0.46527	-0.9185	10	0.37606	T	0.19	-0.9667	11.77	0.51953	0.0:0.9197:0.0:0.0803	.	210;210;210	Q6UWH4-3;Q6UWH4-2;Q6UWH4	.;.;F198B_HUMAN	K	210	ENSP00000296530:E210K;ENSP00000377396:E210K	ENSP00000296530:E210K	E	-	1	0	FAM198B	159311350	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	1.942000	0.40243	2.550000	0.86006	0.563000	0.77884	GAG	FAM198B	-	NULL	ENSG00000164125		0.652	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	-	0	39	0	C	NM_001031700, NM_016613		159091900	-1	tier1	-	no_errors	ENST00000393807	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	T	T	159091900	C	T	159091900	3	4	81	1	0	0	0	0	1	0	0	0	5548	893	31	1	1052	1	FAM198B	4	159091900	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2242358	159091900	32062376	66	21333											
MFAP3L	9848	genome.wustl.edu	37	chr4	170913139	170913139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaggtgatgatggggatgCgcttggcgatctcaaatgcc	8	9	16	8	3	1	2	1	2	1	0	2	5	1	4	1	5	2	1	1	5	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:170913139C>A	ENST00000361618.3	-	3	927	c.620G>T	c.(619-621)cGc>cTc	p.R207L	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.R104L	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GATGGGGATGCGCTTGGCGAT	0.512																																																	0													134	139	138					4																	170913139		2203	4300	6503	SO:0001583	missense	0			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"Immunoglobulin superfamily / I-set domain containing"	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.620G>T	4.37:g.170913139C>A	ENSP00000354583:p.Arg207Leu		A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R207L	ENST00000361618.3	37	c.620	CCDS34103.1	4	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762002	0.89932	.	.	ENSG00000198948	ENST00000393704;ENST00000361618;ENST00000512698	D;D;D	0.98958	-5.27;-2.28;-5.01	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.99886	1.1123	10	0.59425	D	0.04	-22.9421	19.4847	0.95025	0.0:1.0:0.0:0.0	.	207	O75121	MFA3L_HUMAN	L	104;207;104	ENSP00000377307:R104L;ENSP00000354583:R207L;ENSP00000422791:R104L	ENSP00000354583:R207L	R	-	2	0	MFAP3L	171149714	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.602000	0.87976	0.555000	0.69702	CGC	MFAP3L	-	NULL	ENSG00000198948		0.512	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2	-	0	35	0	C	NM_021647		170913139	-1	tier1	-	no_errors	ENST00000361618	ensembl	human	known	74_37	missense	37.50	10	6	SNP	1.000	A	A	170913139	C	A	170913139	3	1	81	1	0	0	0	0	1	0	0	0	9554	768	27	2	613	2	MFAP3L	4	170913139	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	11821239	170913139	20241137	67	21334											
ADAM29	11086	genome.wustl.edu	37	chr4	175897795	175897795	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaattgtagttatggtgaTttttgggaatatactgtaga	12	16	11	2	0	0	2	0	1	0	1	0	3	0	3	0	2	2	4	0	2	7	8			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:175897795T>G	ENST00000359240.3	+	5	1789	c.1119T>G	c.(1117-1119)gaT>gaG	p.D373E	ADAM29_ENST00000404450.4_Missense_Mutation_p.D373E|ADAM29_ENST00000514159.1_Missense_Mutation_p.D373E|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.D373E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	373	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D373D(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTATGGTGATTTTTGGGAAT	0.388																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - coding silent(1)	central_nervous_system(1)											128	129	128					4																	175897795		2203	4300	6503	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1119T>G	4.37:g.175897795T>G	ENSP00000352177:p.Asp373Glu		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D373E	ENST00000359240.3	37	c.1119	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	T	4.397	0.073313	0.08485	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	3.6	-7.2	0.01495	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	1.753660	0.04441	U	0.370851	T	0.42562	0.1208	N	0.21373	0.66	0.09310	N	1	B	0.22146	0.065	B	0.30251	0.113	T	0.30851	-0.9964	9	.	.	.	.	4.9378	0.13950	0.2292:0.5089:0.116:0.146	.	373	Q9UKF5	ADA29_HUMAN	E	373	ENSP00000352177:D373E;ENSP00000414544:D373E;ENSP00000384229:D373E;ENSP00000423517:D373E	.	D	+	3	2	ADAM29	176134370	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.722000	0.04958	-2.314000	0.00647	-0.342000	0.07992	GAT	ADAM29	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168594		0.388	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding			0	33	0	T			175897795	1			no_errors	ENST00000359240	ensembl	human	known	74_37	missense	28.57	5	2	SNP	0.000	G	G	175897795	T	G	175897795	3	3	81	1	0	0	0	0	1	0	0	0	247	1490	52	4	1121	4	ADAM29	4	175897795	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	4984656	175897795	15256481	68	21335											
ODZ3	55714	genome.wustl.edu	37	chr4	183694653	183694653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaaggtcgtctgacaaatGttacgtttccaactggagtg	10	12	12	7	2	1	2	0	2	1	0	3	3	2	3	1	2	2	2	1	2	4	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr4:183694653G>A	ENST00000511685.1	+	23	5044	c.4921G>A	c.(4921-4923)Gtt>Att	p.V1641I	TENM3_ENST00000406950.2_Missense_Mutation_p.V1641I|RP11-18D7.2_ENST00000513255.1_RNA			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1641					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTGACAAATGTTACGTTTCC	0.413																																																	0													168	158	161					4																	183694653		1996	4179	6175	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4921G>A	4.37:g.183694653G>A	ENSP00000424226:p.Val1641Ile		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V1641I	ENST00000511685.1	37	c.4921	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458881	0.63401	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.16897	2.31;2.31	5.26	5.26	0.73747	.	.	.	.	.	T	0.41190	0.1148	M	0.77313	2.365	0.80722	D	1	P	0.44690	0.841	P	0.55824	0.785	T	0.10800	-1.0614	9	0.48119	T	0.1	.	19.0748	0.93156	0.0:0.0:1.0:0.0	.	1641	Q9P273	TEN3_HUMAN	I	1641	ENSP00000424226:V1641I;ENSP00000385276:V1641I	ENSP00000385276:V1641I	V	+	1	0	ODZ3	183931647	1.000000	0.71417	0.411000	0.26484	0.214000	0.24535	9.263000	0.95617	2.733000	0.93635	0.655000	0.94253	GTT	TENM3	-	tigrfam_YD	ENSG00000218336		0.413	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	79	0	G			183694653	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A	A	183694653	G	A	183694653	3	1	81	1	0	0	0	0	1	0	0	0	10875	1377	48	3	5007	3	ODZ3	4	183694653	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	7796858	183694653	7459623	69	21336											
CDK7	1022	genome.wustl.edu	37	chr5	68565057	68565057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttttgccaggagattcAgaccttgatcagctaacaag	11	12	8	10	0	2	3	2	1	0	2	2	4	2	3	3	1	3	1	3	1	2	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:68565057A>G	ENST00000256443.3	+	9	754	c.651A>G	c.(649-651)tcA>tcG	p.S217S	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_Silent_p.S124S|CDK7_ENST00000514676.1_Silent_p.S180S	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CAGGAGATTCAGACCTTGATC	0.363								Nucleotide excision repair (NER)																																									0													105	102	103					5																	68565057		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"Cyclin-dependent kinases", "General transcription factor IIH complex subunits"	1778	protein-coding gene	gene with protein product		601955	"cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)", "cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.651A>G	5.37:g.68565057A>G			Q9BS60|Q9UE19	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S217	ENST00000256443.3	37	c.651	CCDS3999.1	5																																																																																			CDK7	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134058		0.363	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK7	HGNC	protein_coding	OTTHUMT00000216802.3	-	0	83	0	A	NM_001799		68565057	1	tier1	-	no_errors	ENST00000256443	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	G	G	68565057	A	G	68565057	2	3	81	1	0	0	0	0	0	0	0	1	3156	175	7	4		4	CDK7	5	68565057	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09		68565057	112350203	70	21337											
THBS4	7060	genome.wustl.edu	37	chr5	79351798	79351798	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctccccagggcctttgcTggcccctcccagaaacctga	8	8	8	17	0	1	2	0	1	1	1	3	2	2	2	7	2	2	1	7	2	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:79351798T>C	ENST00000350881.2	+	3	673	c.483T>C	c.(481-483)gcT>gcC	p.A161A	THBS4_ENST00000511733.1_Silent_p.A70A|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	161	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGGCCTTTGCTGGCCCCTCCC	0.547																																																	0													35	40	39					5																	79351798		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.483T>C	5.37:g.79351798T>C			B2R909|Q86TG2	Silent	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A161	ENST00000350881.2	37	c.483	CCDS4049.1	5																																																																																			THBS4	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000113296		0.547	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	-	0	26	0	T			79351798	1	tier1	-	no_errors	ENST00000350881	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.939	C	C	79351798	T	C	79351798	2	2	81	1	0	0	0	0	0	0	0	1	15903	1567	55	4		4	THBS4	5	79351798	Silent	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	10786741	79351798	101563462	71	21338											
ACOT12	134526	genome.wustl.edu	37	chr5	80643707	80643707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatgctctgaacggaggtgCcccttgtggaaaccgctcct	8	9	11	13	2	1	1	0	1	1	0	2	3	2	3	4	3	4	2	4	3	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:80643707C>T	ENST00000307624.3	-	6	567	c.539G>A	c.(538-540)gGc>gAc	p.G180D		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	180	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AACGGAGGTGCCCCTTGTGGA	0.507																																																	0													244	228	233					5																	80643707		2203	4300	6503	SO:0001583	missense	0			AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	24436	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 15"	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.539G>A	5.37:g.80643707C>T	ENSP00000303246:p.Gly180Asp		B3KVK9|Q5FWE9	Missense_Mutation	SNP	pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.G180D	ENST00000307624.3	37	c.539	CCDS4055.1	5	.	.	.	.	.	.	.	.	.	.	C	7.688	0.690375	0.15039	.	.	ENSG00000172497	ENST00000307624	T	0.25250	1.81	5.77	-1.54	0.08584	.	0.870079	0.10330	N	0.687688	T	0.05273	0.0140	N	0.00661	-1.28	0.19300	N	0.99997	B	0.09022	0.002	B	0.06405	0.002	T	0.39418	-0.9615	10	0.09843	T	0.71	-13.3143	3.2995	0.06978	0.1169:0.1736:0.4585:0.251	.	180	Q8WYK0	ACO12_HUMAN	D	180	ENSP00000303246:G180D	ENSP00000303246:G180D	G	-	2	0	ACOT12	80679463	0.000000	0.05858	0.372000	0.25991	0.208000	0.24298	-0.236000	0.09003	-0.159000	0.11021	0.655000	0.94253	GGC	ACOT12	-	NULL	ENSG00000172497		0.507	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT12	HGNC	protein_coding	OTTHUMT00000254074.1		0	85	0	C	NM_130767		80643707	-1			no_errors	ENST00000307624	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.011	T	T	80643707	C	T	80643707	3	4	81	1	0	0	0	0	1	0	0	0	150	739	26	3	1168	3	ACOT12	5	80643707	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1291909	80643707	100271553	72	21339											
TXNDC15	79770	genome.wustl.edu	37	chr5	134229230	134229230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgactgtactctagtcCtgttttacaccccgtggtgc	6	14	10	11	1	1	1	0	1	1	0	2	1	2	1	3	1	3	3	3	1	4	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:134229230C>A	ENST00000358387.4	+	3	1265	c.640C>A	c.(640-642)Ctg>Atg	p.L214M	TXNDC15_ENST00000546290.1_Missense_Mutation_p.L191M	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	214	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACTCTAGTCCTGTTTTACAC	0.458																																																	0													196	193	194					5																	134229230		2203	4300	6503	SO:0001583	missense	0			AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 14"	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.640C>A	5.37:g.134229230C>A	ENSP00000351157:p.Leu214Met		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.L214M	ENST00000358387.4	37	c.640	CCDS4180.1	5	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721500	0.68959	.	.	ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000546290	T;T	0.22945	1.93;1.93	6.07	2.94	0.34122	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.48935	1.535	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.15435	-1.0437	10	0.54805	T	0.06	-2.0814	10.7683	0.46308	0.0:0.7197:0.0:0.2803	.	214	Q96J42	TXD15_HUMAN	M	198;214;191	ENSP00000351157:L214M;ENSP00000443942:L191M	ENSP00000351157:L214M	L	+	1	2	TXNDC15	134257129	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.737000	0.26144	0.901000	0.36495	0.655000	0.94253	CTG	TXNDC15	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000113621		0.458	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC15	HGNC	protein_coding	OTTHUMT00000251160.1	-	0	99	0	C	NM_024715		134229230	1	tier1	-	no_errors	ENST00000358387	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	134229230	C	A	134229230	3	1	81	1	0	0	0	0	1	0	0	0	16843	680	24	3	650	3	TXNDC15	5	134229230	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	53585523	134229230	46686030	73	21340											
NRG2	9542	genome.wustl.edu	37	chr5	139422030	139422030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggggggcaaaggccgTcttaaagactaagggctgtt	11	8	15	7	2	1	1	0	0	1	1	2	2	1	1	1	5	0	3	1	5	4	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:139422030T>C	ENST00000361474.1	-	1	849	c.625A>G	c.(625-627)Acg>Gcg	p.T209A	NRG2_ENST00000394770.1_Missense_Mutation_p.T209A|NRG2_ENST00000289422.7_Missense_Mutation_p.T209A|NRG2_ENST00000541337.1_Missense_Mutation_p.T209A|NRG2_ENST00000358522.3_Missense_Mutation_p.T209A|NRG2_ENST00000545385.1_Missense_Mutation_p.T209A|NRG2_ENST00000289409.4_Missense_Mutation_p.T209A	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	209					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAAGGCCGTCTTAAAGACT	0.582																																																	0													23	25	24					5																	139422030		2203	4300	6503	SO:0001583	missense	0				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"Immunoglobulin superfamily / I-set domain containing"	7998	protein-coding gene	gene with protein product	"neural- and thymus-derived activator for ErbB kinases", "divergent of neuregulin-1"	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.625A>G	5.37:g.139422030T>C	ENSP00000354910:p.Thr209Ala			Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom	p.T209A	ENST00000361474.1	37	c.625	CCDS4217.1	5	.	.	.	.	.	.	.	.	.	.	T	9.042	0.989955	0.18966	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000394770;ENST00000289409;ENST00000358522;ENST00000544729;ENST00000378238	T;T;T;T;T;T;T;T	0.72167	-0.25;-0.42;-0.38;-0.42;-0.46;-0.63;-0.42;-0.46	4.25	4.25	0.50352	.	.	.	.	.	T	0.46054	0.1373	N	0.04203	-0.255	0.35844	D	0.826283	B;B;B;B	0.23854	0.043;0.025;0.092;0.043	B;B;B;B	0.22880	0.019;0.012;0.042;0.028	T	0.49588	-0.8924	9	0.15066	T	0.55	-0.3096	11.6055	0.51029	0.0:0.0:0.0:1.0	.	209;209;209;209	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	A	209;209;209;209;209;209;209;209;117;209	ENSP00000444235:T209A;ENSP00000289422:T209A;ENSP00000354910:T209A;ENSP00000438753:T209A;ENSP00000378251:T209A;ENSP00000289409:T209A;ENSP00000351323:T209A;ENSP00000367483:T209A	ENSP00000289409:T209A	T	-	1	0	NRG2	139402214	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.881000	0.63114	1.564000	0.49628	0.254000	0.18369	ACG	NRG2	-	NULL	ENSG00000158458		0.582	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1		0	117	0	T	NM_013982		139422030	-1			no_errors	ENST00000545385	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	C	C	139422030	T	C	139422030	3	2	81	1	0	0	0	0	1	0	0	0	10687	1667	58	4	2058	4	NRG2	5	139422030	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	5192800	139422030	41493230	74	21341											
PCDHAC1	56135	genome.wustl.edu	37	chr5	140306543	140306543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgctgcagcgggacagctCgagtactcagtgccggagga	8	5	17	11	4	1	0	1	0	0	0	2	4	1	3	1	4	5	4	1	4	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:140306543C>T	ENST00000253807.2	+	1	66	c.66C>T	c.(64-66)ctC>ctT	p.L22L	PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Silent_p.L22L|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	22	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACAGCTCGAGTACTCAG	0.632																																																	0													100	119	112					5																	140306543		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.66C>T	5.37:g.140306543C>T			Q9Y5F5|Q9Y5I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L22	ENST00000253807.2	37	c.66	CCDS4241.1	5																																																																																			PCDHAC1	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000248383		0.632	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	-	0	79	0	C	NM_018898		140306543	1	tier1	-	no_errors	ENST00000253807	ensembl	human	known	74_37	silent	22.86	27	8	SNP	0.479	T	T	140306543	C	T	140306543	2	4	81	1	0	0	0	0	0	0	0	1	11571	871	31	1		1	PCDHAC1	5	140306543	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	884513	140306543	40608717	75	21342											
TCOF1	6949	genome.wustl.edu	37	chr5	149776309	149776309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcccaaggggccaaggacGagccagaagaggagcttcag	12	3	15	11	1	1	2	1	0	0	2	2	5	2	4	3	4	2	2	3	4	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:149776309G>A	ENST00000504761.2	+	24	4246	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	TCOF1_ENST00000451292.1_Missense_Mutation_p.E1453K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E1379K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E1340K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E1339K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E1416K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E1417K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1416					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCAAGGACGAGCCAGAAGA	0.522																																																	0													21	19	20					5																	149776309		2202	4298	6500	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4246G>A	5.37:g.149776309G>A	ENSP00000421655:p.Glu1416Lys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E1453K	ENST00000504761.2	37	c.4357	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.617562	0.00828	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346;ENST00000515516	T;T;T;T;T;T;T;T;D	0.81821	-0.06;-0.05;-0.04;-0.04;-0.05;-0.04;-0.06;-0.04;-1.54	4.42	3.14	0.36123	.	0.161847	0.29616	N	0.011652	T	0.36331	0.0963	N	0.00112	-2.095	0.21416	N	0.999699	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.50171	-0.8859	10	0.02654	T	1	-16.2449	6.8393	0.23953	0.8889:0.0:0.1111:0.0	.	1379;1339;1378;1416;1340	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	K	1453;1417;1340;1339;1379;1378;1416;1416;116	ENSP00000400939:E1453K;ENSP00000367028:E1417K;ENSP00000409944:E1340K;ENSP00000325223:E1339K;ENSP00000406888:E1379K;ENSP00000390717:E1378K;ENSP00000421655:E1416K;ENSP00000427484:E1416K;ENSP00000426471:E116K	ENSP00000325223:E1339K	E	+	1	0	TCOF1	149756502	0.364000	0.24997	0.891000	0.34965	0.070000	0.16714	2.085000	0.41634	0.646000	0.30693	-0.459000	0.05422	GAG	TCOF1	-	NULL	ENSG00000070814		0.522	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1		0	102	0	G	NM_001008656		149776309	1			no_errors	ENST00000451292	ensembl	human	known	74_37	missense	5.00	37	2	SNP	0.958	A	A	149776309	G	A	149776309	3	1	81	1	0	0	0	0	1	0	0	0	15755	1059	37	1	4365	1	TCOF1	5	149776309	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	9469766	149776309	31138951	76	21343											
TTC1	7265	genome.wustl.edu	37	chr5	159437569	159437569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagaactgtggggttccaGaggatctgttaaatggtttg	10	12	14	5	0	1	2	0	0	1	2	2	4	2	3	1	4	1	3	1	4	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:159437569G>A	ENST00000231238.5	+	2	144	c.34G>A	c.(34-36)Gag>Aag	p.E12K	TTC1_ENST00000522793.1_Missense_Mutation_p.E12K|Y_RNA_ENST00000362528.1_RNA	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	12					protein folding (GO:0006457)	peroxisomal membrane (GO:0005778)	unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGGGGTTCCAGAGGATCTGTT	0.493																																																	0													53	62	59					5																	159437569		2202	4300	6502	SO:0001583	missense	0			U46570	CCDS4348.1	5q32-q33.2	2013-01-10			ENSG00000113312	ENSG00000113312		"Tetratricopeptide (TTC) repeat domain containing"	12391	protein-coding gene	gene with protein product		601963				8836031	Standard	NM_003314		Approved	TPR1	uc003lxu.3	Q99614	OTTHUMG00000130326	ENST00000231238.5:c.34G>A	5.37:g.159437569G>A	ENSP00000231238:p.Glu12Lys		B2RCT2|D3DQJ8|Q9BVT3	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E12K	ENST00000231238.5	37	c.34	CCDS4348.1	5	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194432	0.38806	.	.	ENSG00000113312	ENST00000231238;ENST00000522793	T;T	0.22134	1.97;1.97	5.25	5.25	0.73442	.	0.239948	0.41500	D	0.000866	T	0.19805	0.0476	M	0.66939	2.045	0.39919	D	0.974131	P	0.45348	0.856	B	0.31390	0.129	T	0.11641	-1.0579	10	0.30854	T	0.27	-23.3123	14.3464	0.66668	0.0:0.0:1.0:0.0	.	12	Q99614	TTC1_HUMAN	K	12	ENSP00000231238:E12K;ENSP00000429225:E12K	ENSP00000231238:E12K	E	+	1	0	TTC1	159370147	1.000000	0.71417	0.988000	0.46212	0.017000	0.09413	3.650000	0.54424	2.434000	0.82447	0.555000	0.69702	GAG	TTC1	-	NULL	ENSG00000113312		0.493	TTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC1	HGNC	protein_coding	OTTHUMT00000252675.3	-	0	69	0	G	NM_003314		159437569	1	tier1	-	no_errors	ENST00000231238	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.999	A	A	159437569	G	A	159437569	3	1	81	1	0	0	0	0	1	0	0	0	16727	943	33	3	36	3	TTC1	5	159437569	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	9661260	159437569	21477691	77	21344											
DOCK2	1794	genome.wustl.edu	37	chr5	169435601	169435601	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacaacaaaatcctgaataAgtaggttgcatttttggatt	15	14	7	5	0	0	1	0	1	0	0	1	2	1	2	1	2	3	3	1	2	7	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:169435601A>C	ENST00000256935.8	+	31	3253	c.3173A>C	c.(3172-3174)aAg>aCg	p.K1058T	DOCK2_ENST00000540750.1_Splice_Site_p.K119T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.K550T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1058	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.K1058T(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTGAATAAGTAGGTTGCA	0.468																																																	2	Substitution - Missense(2)	large_intestine(2)											135	132	133					5																	169435601		2203	4300	6503	SO:0001630	splice_region_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3173+1A>C	5.37:g.169435601A>C			Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K1058T	ENST00000256935.8	37	c.3173	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793522	0.70452	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.55052	0.54;0.54;0.54	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.76938	2.355	0.58432	D	0.999996	P;D	0.76494	0.915;0.999	P;D	0.78314	0.549;0.991	T	0.68176	-0.5478	10	0.14252	T	0.57	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	550;1058	E7ERW7;Q92608	.;DOCK2_HUMAN	T	1058;550;119	ENSP00000256935:K1058T;ENSP00000429283:K550T;ENSP00000438827:K119T	ENSP00000256935:K1058T	K	+	2	0	DOCK2	169368179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.188000	0.69820	0.533000	0.62120	AAG	DOCK2	-	superfamily_ARM-type_fold,superfamily_Ferritin-like_SF	ENSG00000134516		0.468	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	62	0	A	NM_004946	Missense_Mutation	169435601	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	34.62	17	9	SNP	1.000	C	C	169435601	A	C	169435601	5	2	81	1	0	0	0	0	0	0	1	0	4701	86	3	4	3295	4	DOCK2	5	169435601	Splice_Site	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	9998032	169435601	11479659	78	21345											
LCP2	3937	genome.wustl.edu	37	chr5	169702853	169702853	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgatttcctgacttaacTtactgagaatcctgcaagat	11	15	7	8	0	0	4	0	3	0	2	2	5	2	4	2	0	3	2	2	0	4	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:169702853T>G	ENST00000046794.5	-	4	815	c.200A>C	c.(199-201)aAg>aCg	p.K67T		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	67	SAM.				blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTGACTTAACTTACTGAGAAT	0.453																																																	0													75	70	71					5																	169702853		1917	4118	6035	SO:0001583	missense	0				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.200A>C	5.37:g.169702853T>G	ENSP00000046794:p.Lys67Thr		A8KA25|Q53XV4	Missense_Mutation	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.K67T	ENST00000046794.5	37	c.200	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	T	18.55	3.649307	0.67358	.	.	ENSG00000043462	ENST00000046794	D	0.89050	-2.46	4.8	3.63	0.41609	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91316	0.5078	9	.	.	.	-26.6306	7.4465	0.27213	0.0:0.1018:0.0:0.8982	.	67	Q13094	LCP2_HUMAN	T	67	ENSP00000046794:K67T	.	K	-	2	0	LCP2	169635431	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.567000	0.45956	0.936000	0.37367	0.482000	0.46254	AAG	LCP2	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000043462		0.453	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	-	0	88	0	T	NM_005565		169702853	-1	tier1	-	no_errors	ENST00000046794	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	G	G	169702853	T	G	169702853	3	3	81	1	0	0	0	0	1	0	0	0	8720	1609	56	4	1473	4	LCP2	5	169702853	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	267252	169702853	11212407	79	21346											
RANBP17	64901	genome.wustl.edu	37	chr5	170597179	170597179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaataacagatgacaacCacgttctagagacgttcatg	15	9	9	8	2	2	3	1	1	1	2	2	5	2	4	1	1	2	2	1	1	5	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:170597179C>T	ENST00000523189.1	+	15	1920	c.1756C>T	c.(1756-1758)Cac>Tac	p.H586Y	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	586					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGATGACAACCACGTTCTAGA	0.269			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													144	152	149					5																	170597179		2203	4299	6502	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1756C>T	5.37:g.170597179C>T	ENSP00000427975:p.His586Tyr		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.H586Y	ENST00000523189.1	37	c.1756	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287353	0.40494	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.21734	1.99	6.06	6.06	0.98353	Armadillo-type fold (1);	0.283745	0.30752	N	0.008950	T	0.12944	0.0314	N	0.11427	0.14	0.25248	N	0.989699	B	0.23377	0.084	B	0.30179	0.112	T	0.16689	-1.0394	10	0.46703	T	0.11	-12.269	9.6295	0.39772	0.1428:0.7853:0.0:0.0719	.	586	Q9H2T7	RBP17_HUMAN	Y	586;16	ENSP00000427975:H586Y	ENSP00000427975:H586Y	H	+	1	0	RANBP17	170529784	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.320000	0.43797	2.880000	0.98712	0.650000	0.86243	CAC	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.269	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0	95	0	C	NM_022897		170597179	1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.996	T	T	170597179	C	T	170597179	3	4	81	1	0	0	0	0	1	0	0	0	13072	594	21	3	1814	3	RANBP17	5	170597179	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	894326	170597179	10318081	80	21347											
C5orf25	375484	genome.wustl.edu	37	chr5	175751685	175751685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgtagaggtggacaggaCccccacctgcagctccaata	11	5	11	14	1	0	1	0	0	0	1	1	3	1	3	5	3	3	3	5	3	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr5:175751685C>T	ENST00000443967.1	+	9	2446	c.2039C>T	c.(2038-2040)aCc>aTc	p.T680I	SIMC1_ENST00000430704.2_Missense_Mutation_p.T265I|SIMC1_ENST00000341199.6_Missense_Mutation_p.T265I|SIMC1_ENST00000332772.4_Missense_Mutation_p.T141I			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	680							SUMO polymer binding (GO:0032184)										GTGGACAGGACCCCCACCTGC	0.522																																																	0													94	87	89					5																	175751685		2203	4300	6503	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"oocyte maturation associated 1", "platform element for inhibition of autolytic degradation"		"chromosome 5 open reading frame 25"	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2039C>T	5.37:g.175751685C>T	ENSP00000406571:p.Thr680Ile		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.T680I	ENST00000443967.1	37	c.2039		5	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268779	0.80469	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.33216	1.85;1.85;2.12;1.42	5.35	5.35	0.76521	.	0.384280	0.26311	N	0.025106	T	0.49795	0.1578	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.996;0.943;0.996	T	0.45160	-0.9280	10	0.72032	D	0.01	-13.3041	16.0862	0.81056	0.0:1.0:0.0:0.0	.	141;265;680	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	I	265;265;680;141	ENSP00000342075:T265I;ENSP00000409287:T265I;ENSP00000406571:T680I;ENSP00000331311:T141I	ENSP00000331311:T141I	T	+	2	0	C5orf25	175684291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.800000	0.62524	2.785000	0.95823	0.591000	0.81541	ACC	SIMC1	-	NULL	ENSG00000170085		0.522	SIMC1-001	KNOWN	basic	protein_coding	SIMC1	HGNC	protein_coding	OTTHUMT00000253155.2	-	0	77	0	C	NM_198567		175751685	1	tier1	-	no_errors	ENST00000443967	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	175751685	C	T	175751685	3	4	81	1	0	0	0	0	1	0	0	0	2295	507	18	3	816	3	C5orf25	5	175751685	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5154506	175751685	5163575	81	21348											
KIAA0319	9856	genome.wustl.edu	37	chr6	24566912	24566912	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaccatccaaagtaatGgaattattgggaagcacaag	16	9	9	7	0	0	1	0	1	0	0	1	3	1	3	2	2	2	2	2	2	7	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:24566912G>A	ENST00000378214.3	-	14	2729	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	KIAA0319_ENST00000430948.2_Silent_p.S690S|KIAA0319_ENST00000543707.1_Silent_p.S735S|KIAA0319_ENST00000535378.1_Silent_p.S726S|KIAA0319_ENST00000537886.1_Silent_p.S735S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	735	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCAAAGTAATGGAATTATTGG	0.448																																																	0													107	107	107					6																	24566912		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2205C>T	6.37:g.24566912G>A			A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S735	ENST00000378214.3	37	c.2205	CCDS34348.1	6																																																																																			KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.448	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1		0	49	0	G	NM_014809		24566912	-1			no_errors	ENST00000378214	ensembl	human	known	74_37	silent	15.79	16	3	SNP	1.000	A	A	24566912	G	A	24566912	2	1	81	1	0	0	0	0	0	0	0	1	8195	1335	47	3		3	KIAA0319	6	24566912	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		24566912	146548155	82	21349											
HIST1H3C	8352	genome.wustl.edu	37	chr6	26045967	26045968	+	Frame_Shift_Del	DEL	TG	TG	-																															actcttcgaagacaccaatcTgtgcgctattcacgctaaac																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:26045967_26045968delTG	ENST00000540144.1	+	1	329_330	c.329_330delTG	c.(328-330)ctgfs	p.L110fs	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	110					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GACACCAATCTGTGCGCTATTC	0.564																																																	0																																										SO:0001589	frameshift_variant	0			X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"Histones / Replication-dependent"	4768	protein-coding gene	gene with protein product		602812	"H3 histone family, member C", "histone 1, H3c"	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.329_330delTG	6.37:g.26045969_26045970delTG	ENSP00000439493:p.Leu110fs		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.C111fs	ENST00000540144.1	37	c.329_330	CCDS4576.1	6																																																																																			HIST1H3C	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000196532		0.564	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3C	HGNC	protein_coding	OTTHUMT00000040078.1		0	123	0	TG	NM_003531		26045968	1	tier1		no_errors	ENST00000540144	ensembl	human	known	74_37	frame_shift_del	55.77	23	29	DEL	1.000:1.000	-	-	26045968	TG	-	26045967	7	5	81	1	0	1	0	1	0	0	0	0	7184	1580	55	0	331	0	HIST1H3C	6	26045967	Frame_Shift_Del	DEL	TG	TCGA-L5-A8NG-01A-11D-A37C-09	1479055	26045967	145069100	83	21350											
BTN1A1	696	genome.wustl.edu	37	chr6	26509198	26509198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggccccctccggcccttCttttgcctatggtctagcgg	2	13	10	16	2	3	0	0	0	3	0	4	0	4	0	5	4	2	0	5	4	2	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:26509198C>T	ENST00000244513.6	+	7	1443	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCCGGCCCTTCTTTTGCCTAT	0.478																																																	0													74	71	72					6																	26509198		2203	4300	6503	SO:0001819	synonymous_variant	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.1377C>T	6.37:g.26509198C>T			Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.F459	ENST00000244513.6	37	c.1377	CCDS4614.1	6																																																																																			BTN1A1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000124557		0.478	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1		0	64	0	C	NM_001732		26509198	1			no_errors	ENST00000244513	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	T	T	26509198	C	T	26509198	2	4	81	1	0	0	0	0	0	0	0	1	1563	912	32	3		3	BTN1A1	6	26509198	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	463231	26509198	144605869	84	21351											
C4A	721	genome.wustl.edu	37	chr6	31997689	31997689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccctggatgccctgtctgCctactggattgcctcccaca	5	11	9	16	0	1	0	0	0	1	0	2	2	2	2	5	2	5	0	5	2	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:31997689C>A	ENST00000435363.2	+	30	4025	c.3941C>A	c.(3940-3942)gCc>gAc	p.A1314D	C4B_ENST00000425700.2_Missense_Mutation_p.A1314D|C4B-AS1_ENST00000415626.1_RNA	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1314					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	GCCCTGTCTGCCTACTGGATT	0.617																																																	0													4	4	4					6																	31997689		1322	2418	3740	SO:0001583	missense	0			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"Blood group antigens", "Complement system"	1324	protein-coding gene	gene with protein product		120820	"complement component 4B"				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3941C>A	6.37:g.31997689C>A	ENSP00000415941:p.Ala1314Asp		A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom	p.A1314D	ENST00000435363.2	37	c.3941	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910732	0.17833	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.33654	1.4;1.4	4.63	-0.263	0.12954	.	0.407215	0.24881	N	0.034855	T	0.24624	0.0597	M	0.79343	2.45	0.09310	N	0.999996	B;B	0.31859	0.156;0.343	B;B	0.43155	0.167;0.41	T	0.33111	-0.9881	10	0.44086	T	0.13	.	6.2781	0.20991	0.6104:0.2854:0.0:0.1041	.	1314;1314	F5GXS0;Q6U2E9	.;.	D	1314	ENSP00000415941:A1314D;ENSP00000391933:A1314D	ENSP00000391933:A1314D	A	+	2	0	C4B	32105668	0.000000	0.05858	0.389000	0.26208	0.643000	0.38383	-0.813000	0.04491	0.026000	0.15269	0.449000	0.29647	GCC	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000224389		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5	-	0	26	0	C	NM_001002029		31997689	1	tier1	-	no_errors	ENST00000435363	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.093	A	A	31997689	C	A	31997689	3	1	81	1	0	0	0	0	1	0	0	0	2254	739	26	3	8784	3	C4A	6	31997689	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5488491	31997689	139117378	85	21352											
DNAH8	1769	genome.wustl.edu	37	chr6	38794124	38794124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccttgtcttgcatacGtgataatgaaattcaaatgg	13	12	10	6	1	2	2	1	2	1	0	2	3	2	3	1	2	3	1	1	2	5	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:38794124G>A	ENST00000359357.3	+	27	3643	c.3389G>A	c.(3388-3390)cGt>cAt	p.R1130H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1347H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1130H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1130					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1130H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTGCATACGTGATAATGAA	0.294																																																	2	Substitution - Missense(2)	endometrium(2)											101	100	101					6																	38794124		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3389G>A	6.37:g.38794124G>A	ENSP00000352312:p.Arg1130His		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1130H	ENST00000359357.3	37	c.3389		6	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409114	0.83340	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.29655	1.63;1.63;1.56	5.44	5.44	0.79542	.	0.116044	0.64402	D	0.000014	T	0.44222	0.1283	M	0.87456	2.885	0.53005	D	0.999961	D	0.67145	0.996	P	0.54590	0.756	T	0.53851	-0.8380	10	0.72032	D	0.01	.	12.8599	0.57908	0.0775:0.0:0.9225:0.0	.	1130	Q96JB1	DYH8_HUMAN	H	1335;1335;1130;1130	ENSP00000333363:R1335H;ENSP00000352312:R1130H;ENSP00000402294:R1130H	ENSP00000333363:R1335H	R	+	2	0	DNAH8	38902102	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.583000	0.60964	2.587000	0.87381	0.545000	0.68477	CGT	DNAH8	-	NULL	ENSG00000124721		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1		0	69	0	G	NM_001206927		38794124	1			no_errors	ENST00000359357	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	38794124	G	A	38794124	3	1	81	1	0	0	0	0	1	0	0	0	4621	1145	40	1	3487	1	DNAH8	6	38794124	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	6796435	38794124	132320943	86	21353											
DAAM2	23500	genome.wustl.edu	37	chr6	39832802	39832802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggagacggagatgaggaAccaagtcgtggaagacctga	14	4	17	6	2	0	5	0	2	0	3	1	10	0	8	2	5	1	0	2	5	3	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:39832802A>G	ENST00000398904.2	+	5	562	c.380A>G	c.(379-381)aAc>aGc	p.N127S	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000538976.1_Missense_Mutation_p.N127S|DAAM2_ENST00000274867.4_Missense_Mutation_p.N127S			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	127	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAGATGAGGAACCAAGTCGTG	0.552											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101	119	113					6																	39832802		2099	4225	6324	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.380A>G	6.37:g.39832802A>G	ENSP00000381876:p.Asn127Ser	888	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.N127S	ENST00000398904.2	37	c.380	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	a	16.25	3.070148	0.55539	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.86366	-2.11;-2.11;-2.11	5.71	4.52	0.55395	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.047776	0.85682	N	0.000000	T	0.54902	0.1887	N	0.12182	0.205	0.80722	D	1	B;B	0.24426	0.084;0.103	B;B	0.19666	0.015;0.026	T	0.54879	-0.8227	10	0.06099	T	0.92	.	11.6456	0.51259	0.9292:0.0:0.0708:0.0	.	127;127	G5EA45;Q86T65	.;DAAM2_HUMAN	S	127	ENSP00000274867:N127S;ENSP00000381876:N127S;ENSP00000437808:N127S	ENSP00000274867:N127S	N	+	2	0	DAAM2	39940780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.511000	0.81718	0.959000	0.37980	0.529000	0.55759	AAC	DAAM2	-	pfam_GTPase-bd,superfamily_ARM-type_fold	ENSG00000146122		0.552	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0	44	0	A			39832802	1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	G	G	39832802	A	G	39832802	3	3	81	1	0	0	0	0	1	0	0	0	4225	43	2	4	394	4	DAAM2	6	39832802	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1038678	39832802	131282265	87	21354											
PGM3	112611	genome.wustl.edu	37	chr6	83900566	83900566	+	5'Flank	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaccatgactcctatagTggattttgtctgttttgacc	7	18	8	8	0	1	2	0	2	1	0	2	3	2	3	3	1	1	2	3	1	3	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:83900566T>C	ENST00000369724.4	+	0	0				PGM3_ENST00000506587.1_Missense_Mutation_p.T84A|PGM3_ENST00000513973.1_Missense_Mutation_p.T56A|PGM3_ENST00000512866.1_Missense_Mutation_p.T56A|RWDD2A_ENST00000539997.1_5'Flank|PGM3_ENST00000283977.4_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A											cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ACTCCTATAGTGGATTTTGTC	0.443																																																	0													216	181	193					6																	83900566		2203	4300	6503	SO:0001631	upstream_gene_variant	0			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"RWD domain containing 2"	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109		6.37:g.83900566T>C	Exception_encountered		B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM	p.T56A	ENST00000369724.4	37	c.166	CCDS4998.1	6	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871639	0.33069	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000506587;ENST00000507554;ENST00000508748;ENST00000503094	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.76	4.62	0.57501	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);	0.143579	0.64402	D	0.000006	T	0.12561	0.0305	N	0.01146	-0.985	0.52501	D	0.999951	B;B	0.11235	0.004;0.004	B;B	0.21546	0.035;0.035	T	0.12915	-1.0529	10	0.22706	T	0.39	-16.9707	8.5046	0.33179	0.0:0.1441:0.0:0.8559	.	84;56	E9PF86;O95394	.;AGM1_HUMAN	A	56;56;84;56;84;84	ENSP00000424874:T56A;ENSP00000421565:T56A;ENSP00000425809:T84A;ENSP00000425558:T56A;ENSP00000424865:T84A;ENSP00000422362:T84A	ENSP00000422362:T84A	T	-	1	0	PGM3	83957285	1.000000	0.71417	0.887000	0.34795	0.564000	0.35744	3.287000	0.51732	2.186000	0.69663	0.533000	0.62120	ACT	PGM3	-	pfam_A-D-PHexomutase_a/b/a-I,pirsf_PAGM	ENSG00000013375		0.443	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM3	HGNC	protein_coding	OTTHUMT00000041348.2	-	0	100	0	T	NM_033411		83900566	-1	tier1	-	no_errors	ENST00000513973	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.972	C	C	83900566	T	C	83900566	1	2	81	0	1	0	0	0	0	0	0	0	11839	1696	59	4		4	PGM3	6	83900566	5'Flank	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	44067764	83900566	87214501	88	21355											
MDN1	23195	genome.wustl.edu	37	chr6	90388401	90388401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctgaccgctgcttcTccttctctgcagagggttcc	3	14	10	14	1	3	2	0	1	3	1	6	2	4	2	3	2	2	5	3	2	0	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:90388401T>C	ENST00000369393.3	-	75	12444	c.12329A>G	c.(12328-12330)gAg>gGg	p.E4110G	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.E4110G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4110					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCGCTGCTTCTCCTTCTCTGC	0.473																																																	0													152	139	143					6																	90388401		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12329A>G	6.37:g.90388401T>C	ENSP00000358400:p.Glu4110Gly		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.E4110G	ENST00000369393.3	37	c.12329	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	17.83	3.485969	0.63962	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03889	3.77;3.77	5.13	5.13	0.70059	.	0.061513	0.64402	D	0.000006	T	0.07413	0.0187	M	0.66506	2.035	0.58432	D	0.999996	D	0.59767	0.986	P	0.50970	0.655	T	0.03875	-1.0996	10	0.72032	D	0.01	.	14.9383	0.70975	0.0:0.0:0.0:1.0	.	4110	Q9NU22	MDN1_HUMAN	G	4110	ENSP00000358400:E4110G;ENSP00000413970:E4110G	ENSP00000358400:E4110G	E	-	2	0	MDN1	90445122	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.591000	0.82666	1.935000	0.56089	0.459000	0.35465	GAG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	88	0	T			90388401	-1			no_errors	ENST00000369393	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	C	C	90388401	T	C	90388401	3	2	81	1	0	0	0	0	1	0	0	0	9453	1551	54	4	4573	4	MDN1	6	90388401	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	6487835	90388401	80726666	89	21356											
HDAC2	3066	genome.wustl.edu	37	chr6	114277793	114277793	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacttaccaactgaaccGccagttgagagctgacaaaa	15	7	8	11	1	0	3	0	3	0	1	0	4	0	3	3	0	5	3	3	0	6	3	rs373430125		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:114277793G>A	ENST00000519065.1	-	4	724	c.348C>T	c.(346-348)ggC>ggT	p.G116G	HDAC2_ENST00000368632.2_Silent_p.G86G|HDAC2_ENST00000519108.1_Silent_p.G86G|HDAC2_ENST00000398283.2_Silent_p.G210G			Q92769	HDAC2_HUMAN	histone deacetylase 2	116	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	CAACTGAACCGCCAGTTGAGA	0.358																																																	0								G		0,3712		0,0,1856	71	70	70		348	3.4	1	6		70	1,8169		0,1,4084	no	coding-synonymous	HDAC2	NM_001527.3		0,1,5940	AA,AG,GG		0.0122,0.0,0.0084		116/489	114277793	1,11881	1856	4085	5941	SO:0001819	synonymous_variant	0			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.348C>T	6.37:g.114277793G>A			B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse	p.G210	ENST00000519065.1	37	c.630	CCDS43493.2	6																																																																																			HDAC2	-	pfam_His_deacetylse_dom,prints_His_deacetylse_1	ENSG00000196591		0.358	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC2	HGNC	protein_coding	OTTHUMT00000041909.2		0	50	0	G			114277793	-1			no_errors	ENST00000398283	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.998	A	A	114277793	G	A	114277793	2	1	81	1	0	0	0	0	0	0	0	1	7034	1074	38	1		1	HDAC2	6	114277793	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	23889392	114277793	56837274	90	21357											
C6orf204	387119	genome.wustl.edu	37	chr6	118953622	118953622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttagctcaccttccaCgctatcagaacaggaagttc	12	11	7	11	1	2	1	2	0	0	1	4	3	3	2	2	1	2	3	2	1	5	5	rs373910393		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:118953622C>T	ENST00000368491.3	-	2	847	c.226G>A	c.(226-228)Gtg>Atg	p.V76M	CEP85L_ENST00000368488.5_Missense_Mutation_p.V79M|CEP85L_ENST00000360290.3_De_novo_Start_InFrame|CEP85L_ENST00000392500.3_Missense_Mutation_p.V79M|CEP85L_ENST00000419517.2_Missense_Mutation_p.V76M	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	76						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TCACCTTCCACGCTATCAGAA	0.378													C|||	1	0.000199681	0	0.0014	5008	,	,		17164	0		0	False		,,,				2504	0																0								C	MET/VAL,MET/VAL,MET/VAL	1,3713		0,1,1856	92	84	86		226,235,226	4.9	1	6		86	0,8222		0,0,4111	no	missense,missense,missense	C6orf204	NM_001042475.2,NM_001178035.1,NM_206921.2	21,21,21	0,1,5967	TT,TC,CC		0.0,0.0269,0.0084	benign,benign,benign	76/806,79/809,76/497	118953622	1,11935	1857	4111	5968	SO:0001583	missense	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.226G>A	6.37:g.118953622C>T	ENSP00000357477:p.Val76Met		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.V79M	ENST00000368491.3	37	c.235	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725740	0.48833	2.69E-4	0.0	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000419517	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.82	4.9	0.64082	.	0.100168	0.43919	D	0.000513	T	0.21962	0.0529	N	0.16656	0.425	0.37545	D	0.91845	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.70487	0.969;0.969;0.912;0.912	T	0.03025	-1.1081	10	0.52906	T	0.07	-12.5877	11.4167	0.49956	0.1405:0.7241:0.1354:0.0	.	79;76;79;76	Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;CF204_HUMAN	M	76;79;79;79;76	ENSP00000357477:V76M;ENSP00000357474:V79M;ENSP00000392131:V79M;ENSP00000376288:V79M;ENSP00000393317:V76M	ENSP00000357474:V79M	V	-	1	0	C6orf204	119060315	0.995000	0.38212	1.000000	0.80357	0.988000	0.76386	2.956000	0.49129	2.754000	0.94517	0.650000	0.86243	GTG	CEP85L	-	NULL	ENSG00000111860		0.378	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2		0	59	0	C	NM_001042475		118953622	-1			no_errors	ENST00000368488	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.996	T	T	118953622	C	T	118953622	3	4	81	1	0	0	0	0	1	0	0	0	2360	536	19	1	2293	1	C6orf204	6	118953622	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	4675829	118953622	52161445	91	21358											
MCM9	254394	genome.wustl.edu	37	chr6	119243248	119243248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccaacagatagcctttGaacctagcaaagaaaagaaa	19	7	6	9	0	0	4	0	1	0	3	1	4	1	4	3	0	4	1	3	0	8	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:119243248G>T	ENST00000316316.6	-	4	911	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	MCM9_ENST00000316068.3_Missense_Mutation_p.Q209K	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	209					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q209K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GATAGCCTTTGAACCTAGCAA	0.338																																																	2	Substitution - Missense(2)	lung(2)											132	126	128					6																	119243248		2203	4300	6503	SO:0001583	missense	0			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61"	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.625C>A	6.37:g.119243248G>T	ENSP00000314505:p.Gln209Lys		B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.Q209K	ENST00000316316.6	37	c.625	CCDS56447.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957767	0.73902	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.04156	3.69;3.69	5.58	5.58	0.84498	.	.	.	.	.	T	0.03095	0.0091	L	0.45137	1.4	0.80722	D	1	P	0.40083	0.702	B	0.37650	0.255	T	0.57631	-0.7778	9	0.21014	T	0.42	.	19.922	0.97089	0.0:0.0:1.0:0.0	.	209	Q9NXL9-2	.	K	209	ENSP00000314505:Q209K;ENSP00000312870:Q209K	ENSP00000312870:Q209K	Q	-	1	0	MCM9	119284947	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.959000	0.93110	2.780000	0.95670	0.655000	0.94253	CAA	MCM9	-	superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase	ENSG00000111877		0.338	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4		0	37	0	G	NM_153255		119243248	-1			no_errors	ENST00000316316	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	119243248	G	T	119243248	3	4	81	1	0	0	0	0	1	0	0	0	9432	1299	45	3	566	3	MCM9	6	119243248	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	289626	119243248	51871819	92	21359											
HSF2	3298	genome.wustl.edu	37	chr6	122743317	122743317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacacagtaggactgaagGtttaaagccaagggagagga	15	6	13	7	0	0	2	0	1	0	1	1	5	1	4	2	4	1	2	2	4	5	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:122743317G>T	ENST00000368455.4	+	8	896	c.704G>T	c.(703-705)gGt>gTt	p.G235V	HSF2_ENST00000452194.1_Missense_Mutation_p.G235V	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	235					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		AGGACTGAAGGTTTAAAGCCA	0.308																																																	0													92	94	93					6																	122743317		2203	4299	6502	SO:0001583	missense	0			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.704G>T	6.37:g.122743317G>T	ENSP00000357440:p.Gly235Val		B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.G235V	ENST00000368455.4	37	c.704	CCDS5124.1	6	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939919	0.73557	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	5.65	5.65	0.86999	Vertebrate heat shock transcription factor (1);	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	L	0.56769	1.78	0.80722	D	1	D;D	0.59357	0.981;0.985	P;D	0.63283	0.858;0.913	T	0.61352	-0.7080	9	0.26408	T	0.33	-36.2378	20.1057	0.97893	0.0:0.0:1.0:0.0	.	235;235	Q03933-2;Q03933	.;HSF2_HUMAN	V	235	.	ENSP00000357440:G235V	G	+	2	0	HSF2	122785016	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.425000	0.80255	2.827000	0.97445	0.650000	0.86243	GGT	HSF2	-	pfam_Vert_HSTF_C	ENSG00000025156		0.308	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF2	HGNC	protein_coding	OTTHUMT00000043520.1	-	0	57	0	G	NM_004506		122743317	1	tier1	-	no_errors	ENST00000368455	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	T	T	122743317	G	T	122743317	3	4	81	1	0	0	0	0	1	0	0	0	7423	1261	44	3	734	3	HSF2	6	122743317	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	3500069	122743317	48371750	93	21360											
LAMA2	3908	genome.wustl.edu	37	chr6	129380971	129380971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattgatggaaagaacacttGgtggcagagtcccagtatta	13	11	11	6	0	0	3	0	1	0	2	1	4	1	4	1	3	1	2	1	3	5	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:129380971G>T	ENST00000421865.2	+	3	375	c.326G>T	c.(325-327)tGg>tTg	p.W109L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	109	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGAACACTTGGTGGCAGAGT	0.363																																																	0													128	115	119					6																	129380971		2203	4299	6502	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.326G>T	6.37:g.129380971G>T	ENSP00000400365:p.Trp109Leu		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.W109L	ENST00000421865.2	37	c.326	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916009	0.92178	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.86497	-2.13	5.51	5.51	0.81932	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96211	0.9153	10	0.87932	D	0	.	19.4688	0.94954	0.0:0.0:1.0:0.0	.	109;109	A6NF00;P24043	.;LAMA2_HUMAN	L	109	ENSP00000400365:W109L	ENSP00000346769:W109L	W	+	2	0	LAMA2	129422664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.371000	0.97162	2.611000	0.88343	0.580000	0.79431	TGG	LAMA2	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000196569		0.363	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	44	0	G			129380971	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	129380971	G	T	129380971	3	4	81	1	0	0	0	0	1	0	0	0	8634	1357	47	3	336	3	LAMA2	6	129380971	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	6637654	129380971	41734096	94	21361											
AHI1	54806	genome.wustl.edu	37	chr6	135787092	135787092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttattttcctcttaatCtcctttgccatttcttcagt	5	23	2	11	0	5	0	1	0	4	0	7	0	6	0	3	0	1	0	3	0	2	8			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:135787092C>A	ENST00000367800.4	-	5	825	c.609G>T	c.(607-609)gaG>gaT	p.E203D	AHI1_ENST00000327035.6_Missense_Mutation_p.E203D|AHI1_ENST00000457866.2_Missense_Mutation_p.E203D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	203	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCCTCTTAATCTCCTTTGCCA	0.363																																																	0													168	157	160					6																	135787092		1863	4111	5974	SO:0001583	missense	0			AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"WD repeat domain containing"	21575	protein-coding gene	gene with protein product	"Jouberin"	608894	"Abelson helper integration site"			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.609G>T	6.37:g.135787092C>A	ENSP00000356774:p.Glu203Asp		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain	p.E203D	ENST00000367800.4	37	c.609	CCDS47483.1	6	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649986	0.67472	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.58210	0.35;0.35;0.35;1.46;0.69	5.86	2.55	0.30701	.	0.266954	0.36555	N	0.002523	T	0.45875	0.1364	M	0.62723	1.935	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.60789	0.879;0.76	T	0.43163	-0.9408	10	0.27785	T	0.31	-23.7066	5.615	0.17426	0.0:0.4118:0.0:0.5882	.	203;203	Q8N157-2;Q8N157	.;AHI1_HUMAN	D	203;203;203;203;203;185	ENSP00000356774:E203D;ENSP00000388650:E203D;ENSP00000265602:E203D;ENSP00000322478:E203D;ENSP00000433063:E185D	ENSP00000265602:E203D	E	-	3	2	AHI1	135828785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.690000	0.37711	0.871000	0.35750	0.650000	0.86243	GAG	AHI1	-	NULL	ENSG00000135541		0.363	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	AHI1	HGNC	protein_coding	OTTHUMT00000391948.1	-	0	107	0	C	NM_017651		135787092	-1	tier1	-	no_errors	ENST00000265602	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	A	A	135787092	C	A	135787092	3	1	81	1	0	0	0	0	1	0	0	0	413	912	32	3	3130	3	AHI1	6	135787092	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	6406121	135787092	35327975	95	21362											
MAP3K5	4217	genome.wustl.edu	37	chr6	136882733	136882733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcggtaagttcagaatcttCagtatttgtgccagaagaat	12	13	10	6	1	3	3	2	0	1	3	4	3	3	3	1	1	1	3	1	1	5	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:136882733C>T	ENST00000359015.4	-	28	4285	c.3925G>A	c.(3925-3927)Gaa>Aaa	p.E1309K	MAP3K5_ENST00000355845.4_Missense_Mutation_p.E556K	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1309					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGAATCTTCAGTATTTGTG	0.383																																																	0													93	93	93					6																	136882733		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3925G>A	6.37:g.136882733C>T	ENSP00000351908:p.Glu1309Lys		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1309K	ENST00000359015.4	37	c.3925	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801097	0.50315	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	T;T	0.70869	-0.37;-0.52	5.74	4.87	0.63330	Sterile alpha motif/pointed domain (1);	0.103053	0.64402	N	0.000003	T	0.43144	0.1234	L	0.46157	1.445	0.46260	D	0.998951	B	0.02656	0.0	B	0.04013	0.001	T	0.48352	-0.9043	10	0.06757	T	0.87	.	15.0503	0.71862	0.0:0.9311:0.0:0.0689	.	1309	Q99683	M3K5_HUMAN	K	1309;556	ENSP00000351908:E1309K;ENSP00000348104:E556K	ENSP00000348104:E556K	E	-	1	0	MAP3K5	136924426	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	4.060000	0.57477	1.423000	0.47198	0.591000	0.81541	GAA	MAP3K5	-	superfamily_SAM/pointed	ENSG00000197442		0.383	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	53	0	C			136882733	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.999	T	T	136882733	C	T	136882733	3	4	81	1	0	0	0	0	1	0	0	0	9291	835	29	3	211	3	MAP3K5	6	136882733	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1095641	136882733	34232334	96	21363											
UTRN	7402	genome.wustl.edu	37	chr6	144858790	144858790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatctgttggttaacaaaGgctgagcatgctatgcaaaa	14	12	9	6	0	1	1	0	1	1	0	1	1	1	1	0	2	4	6	0	2	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:144858790G>T	ENST00000367545.3	+	43	6306	c.6306G>T	c.(6304-6306)aaG>aaT	p.K2102N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2102					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGTTAACAAAGGCTGAGCATG	0.353																																																	0													124	111	116					6																	144858790		2203	4300	6503	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6306G>T	6.37:g.144858790G>T	ENSP00000356515:p.Lys2102Asn		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.K2102N	ENST00000367545.3	37	c.6306	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326743	0.24080	.	.	ENSG00000152818	ENST00000367545	T	0.34275	1.37	4.89	3.07	0.35406	.	0.226238	0.30742	N	0.008973	T	0.06234	0.0161	N	0.19112	0.55	0.19775	N	0.99996	B	0.02656	0.0	B	0.04013	0.001	T	0.35525	-0.9785	10	0.17369	T	0.5	.	4.2696	0.10780	0.2709:0.0:0.528:0.2011	.	2102	P46939	UTRO_HUMAN	N	2102	ENSP00000356515:K2102N	ENSP00000356515:K2102N	K	+	3	2	UTRN	144900483	0.992000	0.36948	0.149000	0.22428	0.632000	0.37999	0.469000	0.22067	0.707000	0.31934	0.655000	0.94253	AAG	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0	68	0	G			144858790	1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.159	T	T	144858790	G	T	144858790	3	4	81	1	0	0	0	0	1	0	0	0	17152	991	35	3	6476	3	UTRN	6	144858790	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	7976057	144858790	26256277	97	21364											
SYNE1	23345	genome.wustl.edu	37	chr6	152771897	152771897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtcccgcactgggagtttCacacagagttcctcgatgag	8	9	13	11	2	1	2	1	1	0	1	4	4	3	3	2	2	0	3	2	2	0	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr6:152771897C>T	ENST00000367255.5	-	27	3859	c.3258G>A	c.(3256-3258)gtG>gtA	p.V1086V	SYNE1_ENST00000367248.3_Silent_p.V1076V|SYNE1_ENST00000423061.1_Silent_p.V1093V|SYNE1_ENST00000448038.1_Silent_p.V1093V|SYNE1_ENST00000367253.4_Silent_p.V1086V|SYNE1_ENST00000265368.4_Silent_p.V1086V|SYNE1_ENST00000413186.2_Silent_p.V1086V|SYNE1_ENST00000341594.5_Silent_p.V1152V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1086					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGGGAGTTTCACACAGAGTT	0.463										HNSCC(10;0.0054)																																							0													157	152	154					6																	152771897		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3258G>A	6.37:g.152771897C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V1086	ENST00000367255.5	37	c.3258	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.463	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	63	0	C	NM_182961		152771897	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.792	T	T	152771897	C	T	152771897	2	4	81	1	0	0	0	0	0	0	0	1	15492	813	29	3		3	SYNE1	6	152771897	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	7913107	152771897	18343170	98	21365											
TWIST1	7291	genome.wustl.edu	37	chr7	19156445	19156445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatcttggagtccagcTcgtcgctctggaggacctgg	5	11	13	12	2	2	0	0	0	2	0	5	3	3	3	3	4	2	2	3	4	0	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:19156445T>G	ENST00000242261.5	-	1	850	c.500A>C	c.(499-501)gAg>gCg	p.E167A	AC003986.6_ENST00000419944.1_RNA	NM_000474.3	NP_000465.1	Q15672	TWST1_HUMAN	twist family bHLH transcription factor 1	167	Sufficient for transactivation activity. {ECO:0000250}.				aortic valve morphogenesis (GO:0003180)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in heart valve development (GO:2000793)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cranial suture morphogenesis (GO:0060363)|embryonic camera-type eye formation (GO:0060900)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cushion morphogenesis (GO:0003203)|eyelid development in camera-type eye (GO:0061029)|in utero embryonic development (GO:0001701)|mitral valve morphogenesis (GO:0003183)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|outer ear morphogenesis (GO:0042473)|palate development (GO:0060021)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell motility (GO:2000147)|positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation (GO:2000802)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of bone mineralization (GO:0030500)|rhythmic process (GO:0048511)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription factor binding (GO:0008134)			lung(2)|upper_aerodigestive_tract(1)	3						GGAGTCCAGCTCGTCGCTCTG	0.617																																																	0													92	76	81					7																	19156445		2203	4300	6503	SO:0001583	missense	0			U80998	CCDS5367.1	7p21	2014-02-07	2013-10-17	2003-03-28	ENSG00000122691	ENSG00000122691		"Basic helix-loop-helix proteins"	12428	protein-coding gene	gene with protein product	"Saethre-Chotzen syndrome"	601622	"blepharophimosis, epicanthus inversus and ptosis 3", "acrocephalosyndactyly 3", "twist homolog 1 (Drosophila)", "twist basic helix-loop-helix transcription factor 1", "craniosynostosis"	ACS3, BPES3, TWIST, CRS		8995765, 11474656, 17343269	Standard	XR_428085		Approved	SCS, H-twist, BPES2, bHLHa38, CRS1	uc003sum.3	Q15672	OTTHUMG00000090821	ENST00000242261.5:c.500A>C	7.37:g.19156445T>G	ENSP00000242261:p.Glu167Ala		A4D128|Q92487|Q99804	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E167A	ENST00000242261.5	37	c.500	CCDS5367.1	7	.	.	.	.	.	.	.	.	.	.	t	14.11	2.438214	0.43326	.	.	ENSG00000122691	ENST00000242261	D	0.98531	-4.98	4.77	4.77	0.60923	Helix-loop-helix DNA-binding (1);	0.000000	0.48767	D	0.000164	D	0.95953	0.8682	L	0.43152	1.355	0.80722	D	1	B	0.28998	0.23	B	0.24006	0.05	D	0.95055	0.8190	10	0.54805	T	0.06	-16.7111	13.9616	0.64182	0.0:0.0:0.0:1.0	.	167	Q15672	TWST1_HUMAN	A	167	ENSP00000242261:E167A	ENSP00000242261:E167A	E	-	2	0	TWIST1	19122970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.908000	0.87438	1.780000	0.52325	0.374000	0.22700	GAG	TWIST1	-	superfamily_bHLH_dom	ENSG00000122691		0.617	TWIST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWIST1	HGNC	protein_coding	OTTHUMT00000207625.1	-	0	60	0	T	NM_000474		19156445	-1	tier1	-	no_errors	ENST00000242261	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G	G	19156445	T	G	19156445	3	3	81	1	0	0	0	0	1	0	0	0	16832	1551	54	4	112	4	TWIST1	7	19156445	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09		19156445	139982218	99	21366											
ABCA13	154664	genome.wustl.edu	37	chr7	48311788	48311788	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaattatgggcctatggcaTttcaaaaggaaaaagagcta	17	9	10	5	0	1	2	1	0	0	2	1	3	1	3	1	3	1	2	1	3	8	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:48311788T>A	ENST00000435803.1	+	17	2549	c.2525T>A	c.(2524-2526)aTt>aAt	p.I842N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	842					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCTATGGCATTTCAAAAGGA	0.299																																																	0													29	30	30					7																	48311788		1779	4054	5833	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2525T>A	7.37:g.48311788T>A	ENSP00000411096:p.Ile842Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I842N	ENST00000435803.1	37	c.2525	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270794	0.23221	.	.	ENSG00000179869	ENST00000435803	D	0.89681	-2.55	5.66	3.31	0.37934	.	0.551628	0.16423	N	0.215083	D	0.86703	0.5996	L	0.59436	1.845	0.23661	N	0.997176	P	0.48911	0.917	P	0.45037	0.467	T	0.78510	-0.2176	10	0.87932	D	0	.	7.1302	0.25496	0.0:0.1764:0.0:0.8236	.	842	Q86UQ4	ABCAD_HUMAN	N	842	ENSP00000411096:I842N	ENSP00000411096:I842N	I	+	2	0	ABCA13	48282334	0.026000	0.19158	0.108000	0.21378	0.068000	0.16541	0.285000	0.18883	0.445000	0.26639	0.528000	0.53228	ATT	ABCA13	-	NULL	ENSG00000179869		0.299	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	78	0	T	NM_152701		48311788	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.281	A	A	48311788	T	A	48311788	3	1	81	1	0	0	0	0	1	0	0	0	31	1493	52	5	2420	5	ABCA13	7	48311788	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	29155343	48311788	110826875	100	21367											
WBSCR17	64409	genome.wustl.edu	37	chr7	71135008	71135008	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaagagcattaaggaaaAgtttaaagtgtaagaatttc	20	10	9	2	0	0	3	0	0	0	3	1	4	0	4	0	1	1	3	0	1	9	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:71135008A>C	ENST00000333538.5	+	8	1952	c.1318A>C	c.(1318-1320)Agt>Cgt	p.S440R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	440					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATTAAGGAAAAGTTTAAAGTG	0.448																																																	0													133	133	133					7																	71135008		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1318A>C	7.37:g.71135008A>C	ENSP00000329654:p.Ser440Arg		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S440R	ENST00000333538.5	37	c.1318	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	A	5.368	0.253144	0.10185	.	.	ENSG00000185274	ENST00000333538	T	0.29655	1.56	5.0	5.0	0.66597	.	0.140585	0.64402	D	0.000006	T	0.07908	0.0198	N	0.00230	-1.795	0.47621	D	0.999477	B	0.06786	0.001	B	0.04013	0.001	T	0.25916	-1.0118	10	0.07990	T	0.79	.	13.8811	0.63682	1.0:0.0:0.0:0.0	.	440	Q6IS24	GLTL3_HUMAN	R	440	ENSP00000329654:S440R	ENSP00000329654:S440R	S	+	1	0	WBSCR17	70772944	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	6.108000	0.71522	1.878000	0.54408	0.482000	0.46254	AGT	WBSCR17	-	NULL	ENSG00000185274		0.448	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	77	0	A	NM_022479		71135008	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	C	C	71135008	A	C	71135008	3	2	81	1	0	0	0	0	1	0	0	0	17313	72	3	4	1348	4	WBSCR17	7	71135008	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	22823220	71135008	88003655	101	21368											
CACNA2D1	781	genome.wustl.edu	37	chr7	81593645	81593645	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggtgtctcatcaagcTgggatcaatctctccaaaaa	14	9	7	11	0	4	0	3	0	2	0	7	1	5	1	2	2	2	1	2	2	5	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:81593645T>A	ENST00000356253.5	-	33	2896	c.2641A>T	c.(2641-2643)Agc>Tgc	p.S881C	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S869C|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.S81C			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	881					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCATCAAGCTGGGATCAATC	0.383																																																	0													59	59	59					7																	81593645		2203	4300	6503	SO:0001583	missense	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2641A>T	7.37:g.81593645T>A	ENSP00000348589:p.Ser881Cys		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S881C	ENST00000356253.5	37	c.2641		7	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487230	0.44249	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000535308	T;T;T	0.72615	-0.67;-0.67;-0.67	5.4	5.4	0.78164	.	0.103999	0.64402	D	0.000002	T	0.65719	0.2718	M	0.62723	1.935	0.37217	D	0.905087	B;B	0.12013	0.002;0.005	B;B	0.15052	0.006;0.012	T	0.68116	-0.5494	10	0.59425	D	0.04	-19.2924	8.4317	0.32761	0.0:0.1175:0.0:0.8825	.	81;869	B7Z658;P54289-2	.;.	C	869;888;881;81	ENSP00000349320:S869C;ENSP00000348589:S881C;ENSP00000443124:S81C	ENSP00000284088:S888C	S	-	1	0	CACNA2D1	81431581	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	4.171000	0.58236	2.167000	0.68274	0.528000	0.53228	AGC	CACNA2D1	-	NULL	ENSG00000153956		0.383	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	43	0	T			81593645	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.980	A	A	81593645	T	A	81593645	3	1	81	1	0	0	0	0	1	0	0	0	2555	1580	55	5	698	5	CACNA2D1	7	81593645	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	10458637	81593645	77545018	102	21369											
PCLO	27445	genome.wustl.edu	37	chr7	82595489	82595489	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttcttgaagagctgaAgctttgtctttctctagttt	6	22	7	6	0	3	3	0	2	3	1	4	3	3	3	0	0	2	3	0	0	3	8			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:82595489A>C	ENST00000333891.9	-	4	3952	c.3615T>G	c.(3613-3615)gcT>gcG	p.A1205A	PCLO_ENST00000423517.2_Silent_p.A1205A	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGAGCTGAAGCTTTGTCTT	0.348																																																	0													153	144	147					7																	82595489		1797	4080	5877	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3615T>G	7.37:g.82595489A>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.A1205	ENST00000333891.9	37	c.3615	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.348	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	96	0	A	NM_014510		82595489	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	23.53	52	16	SNP	0.000	C	C	82595489	A	C	82595489	2	2	81	1	0	0	0	0	0	0	0	1	11622	59	3	4		4	PCLO	7	82595489	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1001844	82595489	76543174	103	21370											
CDK6	1021	genome.wustl.edu	37	chr7	92244497	92244497	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctggctgggcggcaggTgggaatccaggttttctttg	4	14	16	7	1	2	0	0	0	2	0	3	1	3	1	1	6	0	4	1	6	1	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:92244497T>A	ENST00000265734.4	-	8	1349	c.938A>T	c.(937-939)cAc>cTc	p.H313L	CDK6_ENST00000424848.2_Missense_Mutation_p.H313L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	313					astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GGGCGGCAGGTGGGAATCCAG	0.542			T	MLLT10	ALL																																			Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	0													93	84	87					7																	92244497		2203	4300	6503	SO:0001583	missense	0				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"Cyclin-dependent kinases"	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.938A>T	7.37:g.92244497T>A	ENSP00000265734:p.His313Leu		A4D1G0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H313L	ENST00000265734.4	37	c.938	CCDS5628.1	7	.	.	.	.	.	.	.	.	.	.	T	7.060	0.566099	0.13560	.	.	ENSG00000105810	ENST00000265734;ENST00000424848	T;T	0.70986	-0.53;-0.53	6.06	2.43	0.29744	Protein kinase-like domain (1);	0.221097	0.48286	D	0.000194	T	0.49047	0.1534	N	0.11427	0.14	0.32366	N	0.556517	B	0.11235	0.004	B	0.09377	0.004	T	0.52660	-0.8546	10	0.54805	T	0.06	-17.8832	9.848	0.41039	0.0:0.2507:0.0:0.7493	.	313	Q00534	CDK6_HUMAN	L	313	ENSP00000265734:H313L;ENSP00000397087:H313L	ENSP00000265734:H313L	H	-	2	0	CDK6	92082433	0.977000	0.34250	0.999000	0.59377	0.171000	0.22731	1.291000	0.33330	0.535000	0.28714	-0.250000	0.11733	CAC	CDK6	-	superfamily_Kinase-like_dom	ENSG00000105810		0.542	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	-	0	48	0	T			92244497	-1	tier1	-	no_errors	ENST00000265734	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.713	A	A	92244497	T	A	92244497	3	1	81	1	0	0	0	0	1	0	0	0	3155	1696	59	5	46	5	CDK6	7	92244497	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	9649008	92244497	66894166	104	21371											
TFR2	7036	genome.wustl.edu	37	chr7	100238621	100238621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaagatcagcagggcCgtcaggaccaggtagggggc	10	4	17	10	1	2	2	2	1	0	1	2	3	2	3	3	5	1	2	3	5	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:100238621C>T	ENST00000462107.1	-	3	551	c.264G>A	c.(262-264)acG>acA	p.T88T	TFR2_ENST00000223051.3_Silent_p.T88T|TFR2_ENST00000431692.1_Silent_p.T88T			Q9UP52	TFR2_HUMAN	transferrin receptor 2	88					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TCAGCAGGGCCGTCAGGACCA	0.657																																																	0													21	24	23					7																	100238621		2199	4298	6497	SO:0001819	synonymous_variant	0			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.264G>A	7.37:g.100238621C>T			A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.T88	ENST00000462107.1	37	c.264	CCDS34707.1	7																																																																																			TFR2	-	NULL	ENSG00000106327		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	-	0	64	0	C	NM_003227		100238621	-1	tier1	-	no_errors	ENST00000223051	ensembl	human	known	74_37	silent	10.91	49	6	SNP	0.000	T	T	100238621	C	T	100238621	2	4	81	1	0	0	0	0	0	0	0	1	15858	639	23	1		1	TFR2	7	100238621	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	7994124	100238621	58900042	105	21372											
ACTL6B	51412	genome.wustl.edu	37	chr7	100253447	100253447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggacagtcctccccagcGtacccagcgcggactgagaa	9	6	12	14	3	0	1	0	1	0	1	2	4	2	3	4	2	3	1	4	2	2	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:100253447G>A	ENST00000160382.5	-	2	187	c.81C>T	c.(79-81)taC>taT	p.Y27Y		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	27					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTCCCCAGCGTACCCAGCGC	0.622																																																	0													39	35	37					7																	100253447		2192	4284	6476	SO:0001819	synonymous_variant	0			AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"actin-like 6"	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.81C>T	7.37:g.100253447G>A			A4D2D0|O75421	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.Y27	ENST00000160382.5	37	c.81	CCDS5702.1	7																																																																																			ACTL6B	-	pfam_Actin-related,smart_Actin-related	ENSG00000077080		0.622	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6B	HGNC	protein_coding	OTTHUMT00000356745.1	-	0	85	0	G	NM_016188		100253447	-1	tier1	-	no_errors	ENST00000160382	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.998	A	A	100253447	G	A	100253447	2	1	81	1	0	0	0	0	0	0	0	1	199	1140	40	1		1	ACTL6B	7	100253447	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	14826	100253447	58885216	106	21373											
ACHE	43	genome.wustl.edu	37	chr7	100490296	100490296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccacagcctcggctgcCaggtcacttacctggggaac	9	6	12	14	1	1	0	1	0	0	0	2	2	1	2	4	5	4	1	4	5	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:100490296C>T	ENST00000412389.1	-	2	1367	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	UFSP1_ENST00000388761.2_5'Flank|ACHE_ENST00000302913.4_Silent_p.L404L|ACHE_ENST00000411582.1_Silent_p.L404L|ACHE_ENST00000419336.2_Intron|ACHE_ENST00000241069.5_Silent_p.L404L|ACHE_ENST00000428317.1_Silent_p.L404L			P22303	ACES_HUMAN	acetylcholinesterase (Yt blood group)	404					acetylcholine catabolic process (GO:0006581)|acetylcholine catabolic process in synaptic cleft (GO:0001507)|amyloid precursor protein metabolic process (GO:0042982)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|choline metabolic process (GO:0019695)|DNA replication (GO:0006260)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|negative regulation of synaptic transmission, cholinergic (GO:0032223)|nervous system development (GO:0007399)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter receptor biosynthetic process (GO:0045212)|osteoblast development (GO:0002076)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of protein secretion (GO:0050714)|protein tetramerization (GO:0051262)|receptor internalization (GO:0031623)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of receptor recycling (GO:0001919)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|cholinesterase activity (GO:0004104)|collagen binding (GO:0005518)|hydrolase activity (GO:0016787)|laminin binding (GO:0043236)|protein homodimerization activity (GO:0042803)|serine hydrolase activity (GO:0017171)			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium(DB00944)|Dipivefrin(DB00449)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Minaprine(DB00805)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pralidoxime(DB00733)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tubocurarine(DB01199)	CCTCGGCTGCCAGGTCACTTA	0.652																																																	0													27	28	27					7																	100490296		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS5709.1, CCDS5710.1, CCDS64736.1	7q22	2014-07-19	2014-01-02		ENSG00000087085	ENSG00000087085	3.1.1.7	"Blood group antigens"	108	protein-coding gene	gene with protein product	"Yt blood group"	100740	"acetylcholinesterase (YT blood group)", "acetylcholinesterase (Yt blood group)", "acetylcholinesterase"	YT		1380483	Standard	XM_005250357		Approved		uc003uxe.3	P22303	OTTHUMG00000157033	ENST00000412389.1:c.1212G>A	7.37:g.100490296C>T			A4D2E2|B7ZKZ0|D6W5X7|Q16169|Q29S23|Q2M324|Q504V3|Q53F46|Q86TM9|Q86YX9|Q9BXP7	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase	p.L404	ENST00000412389.1	37	c.1212	CCDS5709.1	7																																																																																			ACHE	-	pfam_CarbesteraseB	ENSG00000087085		0.652	ACHE-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACHE	HGNC	protein_coding	OTTHUMT00000347201.1	-	0	99	0	C	NM_015831		100490296	-1	tier1	-	no_errors	ENST00000302913	ensembl	human	known	74_37	silent	14.04	49	8	SNP	0.998	T	T	100490296	C	T	100490296	2	4	81	1	0	0	0	0	0	0	0	1	141	581	21	3		3	ACHE	7	100490296	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	236849	100490296	58648367	107	21374											
MLL5	55904	genome.wustl.edu	37	chr7	104750965	104750965	+	Frame_Shift_Del	DEL	C	C	-																															catgttcaccgagtcatgttCagtcttcaccttcatctcat																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:104750965delC	ENST00000311117.3	+	25	4431	c.3886delC	c.(3886-3888)cagfs	p.Q1296fs	KMT2E_ENST00000334877.4_Intron|SRPK2_ENST00000493638.1_5'Flank|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.Q1296fs|KMT2E_ENST00000334914.7_Frame_Shift_Del_p.Q351fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1296					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										GAGTCATGTTCAGTCTTCACC	0.468																																																	0													256	243	247					7																	104750965		2203	4300	6503	SO:0001589	frameshift_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.3886delC	7.37:g.104750965delC	ENSP00000312379:p.Gln1296fs		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q1296fs	ENST00000311117.3	37	c.3886	CCDS34723.1	7																																																																																			KMT2E	-	NULL	ENSG00000005483		0.468	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1		0	46	0	C			104750965	1	tier1		no_errors	ENST00000257745	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-	-	104750965	C	-	104750965	7	5	81	1	0	1	0	1	0	0	0	0	9662	827	29	0	3976	0	MLL5	7	104750965	Frame_Shift_Del	DEL	C	TCGA-L5-A8NG-01A-11D-A37C-09	4260669	104750965	54387698	108	21375											
SND1	27044	genome.wustl.edu	37	chr7	127729559	127729559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatgcccgcacggacGccgtggacagcgtagttcgg	8	6	16	11	6	0	1	0	1	0	0	1	4	0	4	2	4	2	3	2	4	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:127729559G>A	ENST00000354725.3	+	22	2631	c.2437G>A	c.(2437-2439)Gcc>Acc	p.A813T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	813					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCGCACGGACGCCGTGGACAG	0.587																																																	0													108	96	100					7																	127729559		2203	4300	6503	SO:0001583	missense	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"Tudor domain containing"	30646	protein-coding gene	gene with protein product	"p100 EBNA2 co-activator", "Tudor-SN"	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2437G>A	7.37:g.127729559G>A	ENSP00000346762:p.Ala813Thr		Q13122|Q96AG0	Missense_Mutation	SNP	pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.A813T	ENST00000354725.3	37	c.2437	CCDS34747.1	7	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265750	0.59540	.	.	ENSG00000197157	ENST00000354725;ENST00000438400	T	0.62639	0.01	5.02	5.02	0.67125	Staphylococcal nuclease (SNase-like) (1);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.229105	0.44285	D	0.000464	T	0.57770	0.2076	M	0.61703	1.905	0.54753	D	0.999985	B	0.33073	0.396	B	0.20577	0.03	T	0.64158	-0.6473	10	0.72032	D	0.01	-15.8013	15.8344	0.78787	0.0:0.0:1.0:0.0	.	813	Q7KZF4	SND1_HUMAN	T	813;803	ENSP00000346762:A813T	ENSP00000346762:A813T	A	+	1	0	SND1	127516795	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.387000	0.79785	2.346000	0.79739	0.549000	0.68633	GCC	SND1	-	superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN	ENSG00000197157		0.587	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	-	0	72	0	G	NM_014390		127729559	1	tier1	-	no_errors	ENST00000354725	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	A	A	127729559	G	A	127729559	3	1	81	1	0	0	0	0	1	0	0	0	14889	1087	38	1	2523	1	SND1	7	127729559	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	22978594	127729559	31409104	109	21376											
DGKI	9162	genome.wustl.edu	37	chr7	137092657	137092657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaatctccccgttgcCggttttagctgcgtagtgaa	7	14	9	11	3	2	1	1	1	1	0	3	1	2	1	3	1	3	4	3	1	4	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:137092657C>T	ENST00000288490.5	-	31	2908	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.G983S|DGKI_ENST00000453654.2_Missense_Mutation_p.G639S|DGKI_ENST00000446122.1_Missense_Mutation_p.G952S	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	970					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCCCCGTTGCCGGTTTTAGCT	0.428																																																	0													209	177	188					7																	137092657		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2908G>A	7.37:g.137092657C>T	ENSP00000288490:p.Gly970Ser		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G970S	ENST00000288490.5	37	c.2908	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772877	0.90108	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.46819	0.86;0.86;0.86	5.7	5.7	0.88788	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.73931	0.3650	M	0.86740	2.835	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	T	0.78244	-0.2279	10	0.87932	D	0	.	18.0216	0.89257	0.0:1.0:0.0:0.0	.	639;970	E9PFX6;O75912	.;DGKI_HUMAN	S	639;887;973;970;952	ENSP00000392161:G639S;ENSP00000288490:G970S;ENSP00000399131:G952S	ENSP00000288490:G970S	G	-	1	0	DGKI	136743197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.019000	0.64060	2.683000	0.91414	0.655000	0.94253	GGC	DGKI	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000157680		0.428	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3		0	83	0	C	NM_004717		137092657	-1			no_errors	ENST00000288490	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	137092657	C	T	137092657	3	4	81	1	0	0	0	0	1	0	0	0	4485	652	23	1	305	1	DGKI	7	137092657	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	9363098	137092657	22046006	110	21377											
WEE2	494551	genome.wustl.edu	37	chr7	141424037	141424037	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaacccaaagtggaagaaGgagatagtcgcttcctggct	14	7	11	9	1	0	2	0	0	0	2	2	4	1	3	2	3	1	2	2	3	5	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:141424037G>T	ENST00000397541.2	+	8	1589	c.1183G>T	c.(1183-1185)Gga>Tga	p.G395*	WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGTGGAAGAAGGAGATAGTCG	0.363																																																	0													113	109	110					7																	141424037		1833	4081	5914	SO:0001587	stop_gained	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1183G>T	7.37:g.141424037G>T	ENSP00000380675:p.Gly395*			Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	p.G395*	ENST00000397541.2	37	c.1183	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002598	0.93227	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	.	.	.	X	395;170	.	ENSP00000380675:G395X	G	+	1	0	WEE2	141070506	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.994000	0.93529	2.805000	0.96524	0.655000	0.94253	GGA	WEE2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	ENSG00000214102		0.363	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	HGNC	protein_coding	OTTHUMT00000349091.1	-	0	45	0	G	NM_001105558		141424037	1	tier1	-	no_errors	ENST00000397541	ensembl	human	known	74_37	nonsense	11.11	32	4	SNP	1.000	T	T	141424037	G	T	141424037	4	4	81	1	0	0	0	0	0	1	0	0	17394	1001	35	3	1213	3	WEE2	7	141424037	Nonsense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	4331380	141424037	17714626	111	21378											
MLL3	58508	genome.wustl.edu	37	chr7	151851097	151851097	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatttaatcttttacctCagcagctgtaggatgcagag	11	13	9	8	0	3	1	2	0	1	1	3	2	3	2	1	1	4	4	1	1	3	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr7:151851097C>A	ENST00000262189.6	-	48	12492	c.12274G>T	c.(12274-12276)Gag>Tag	p.E4092*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E4149*|KMT2C_ENST00000485241.1_5'UTR	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4092					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTTTACCTCAGCAGCTGTA	0.408																																																	0													112	113	113					7																	151851097		2203	4300	6503	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12274G>T	7.37:g.151851097C>A	ENSP00000262189:p.Glu4092*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4149*	ENST00000262189.6	37	c.12445	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	55|55	23.738573|23.738573	0.99957|0.99957	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061|ENST00000360104	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.45126|.	U|.	0.000393|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.15499|.	T|.	0.54|.	.|.	19.7157|19.7157	0.96119|0.96119	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	4092;4149;709;218|1652	.|.	ENSP00000262189:E4092X|.	E|X	-|-	1|2	0|2	MLL3|MLL3	151482030|151482030	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	6.013000|6.013000	0.70776|0.70776	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	GAG|TGA	KMT2C	-	NULL	ENSG00000055609		0.408	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	47	0	C			151851097	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	nonsense	20.59	27	7	SNP	1.000	A	A	151851097	C	A	151851097	4	1	81	1	0	0	0	0	0	1	0	0	9660	835	29	3	2509	3	MLL3	7	151851097	Nonsense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	10427060	151851097	7287566	112	21379											
DLGAP2	9228	genome.wustl.edu	37	chr8	1624706	1624706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttgaattaggtggaaaCggccacagattctgacacgg	11	10	12	8	2	2	3	0	2	2	1	2	4	2	4	1	4	1	1	1	4	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:1624706C>T	ENST00000421627.2	+	8	2104	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	736					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TAGGTGGAAACGGCCACAGAT	0.493																																																	0													32	35	34					8																	1624706		1886	4107	5993	SO:0001583	missense	0			AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"discs, large (Drosophila) homolog-associated protein 2"			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1970C>T	8.37:g.1624706C>T	ENSP00000400258:p.Thr657Met		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.T657M	ENST00000421627.2	37	c.1970	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.45|15.45	2.836897|2.836897	0.50951|0.50951	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.18960	.|2.18	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.276401	.|0.45606	.|D	.|0.000351	T|T	0.43322|0.43322	0.1242|0.1242	L|L	0.55481|0.55481	1.735|1.735	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.76494	.|0.998;0.999	.|P;D	.|0.65874	.|0.899;0.939	T|T	0.22661|0.22661	-1.0210|-1.0210	5|10	.|0.66056	.|D	.|0.02	-9.1673|-9.1673	19.4089|19.4089	0.94660|0.94660	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|722;736	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	W|M	660|688;657	.|ENSP00000400258:T657M	.|ENSP00000348366:T688M	R|T	+|+	1|2	2|0	DLGAP2|DLGAP2	1612113|1612113	1.000000|1.000000	0.71417|0.71417	0.609000|0.609000	0.28983|0.28983	0.022000|0.022000	0.10575|0.10575	7.073000|7.073000	0.76784|0.76784	2.583000|2.583000	0.87209|0.87209	0.563000|0.563000	0.77884|0.77884	CGG|ACG	DLGAP2	-	pfam_GKAP	ENSG00000198010		0.493	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	-	0	26	0	C	NM_004745		1624706	1	tier1	-	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T	T	1624706	C	T	1624706	3	4	81	1	0	0	0	0	1	0	0	0	4574	536	19	1	1996	1	DLGAP2	8	1624706	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09		1624706	144739316	113	21380											
USP17L2	377630	genome.wustl.edu	37	chr8	11995085	11995085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgtctgtgtcttcagcGccgagggctcttggttccct	2	13	12	14	3	4	0	1	0	3	0	5	1	5	0	3	2	1	2	3	2	0	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:11995085G>A	ENST00000333796.3	-	1	1501	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	395					apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G395G(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGTCTTCAGCGCCGAGGGCTC	0.562																																																	1	Substitution - coding silent(1)	lung(1)											33	35	35					8																	11995085		1714	3892	5606	SO:0001819	synonymous_variant	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1185C>T	8.37:g.11995085G>A				Silent	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.G395	ENST00000333796.3	37	c.1185	CCDS43713.1	8																																																																																			USP17L2	-	pfam_HABP4_PAIRBP1-bd	ENSG00000223443		0.562	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	0	263	0	G	NM_201402		11995085	-1	tier1	-	no_errors	ENST00000333796	ensembl	human	known	74_37	silent	9.23	118	12	SNP	0.000	A	A	11995085	G	A	11995085	2	1	81	1	0	0	0	0	0	0	0	1	17097	1074	38	1		1	USP17L2	8	11995085	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	10370379	11995085	134368937	114	21381											
RNF122	79845	genome.wustl.edu	37	chr8	33406936	33406936	+	Frame_Shift_Del	DEL	A	A	-																															attcccacgtacttgcggtgAaaggcgtgttggcacgggag																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:33406936delA	ENST00000256257.1	-	5	746	c.345delT	c.(343-345)tttfs	p.F115fs		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	115						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		ACTTGCGGTGAAAGGCGTGTT	0.532																																																	0													127	99	108					8																	33406936		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"RING-type (C3HC4) zinc fingers"	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.345delT	8.37:g.33406936delA	ENSP00000256257:p.Phe115fs		Q52LK3	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H116fs	ENST00000256257.1	37	c.345	CCDS6091.1	8																																																																																			RNF122	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000133874		0.532	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF122	HGNC	protein_coding	OTTHUMT00000376562.1		0	45	0	A	NM_024787		33406936	-1	tier1		no_errors	ENST00000256257	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.997	-	-	33406936	A	-	33406936	7	5	81	1	0	1	0	1	0	0	0	0	13477	243	9	0	130	0	RNF122	8	33406936	Frame_Shift_Del	DEL	A	TCGA-L5-A8NG-01A-11D-A37C-09	21411851	33406936	112957086	115	21382											
WHSC1L1	54904	genome.wustl.edu	37	chr8	38137195	38137195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggccggcatcaattataCggtccttcagaaagaaaaga	14	9	10	8	2	2	3	2	0	0	3	3	3	3	3	2	3	1	1	2	3	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:38137195C>T	ENST00000317025.8	-	21	4140	c.3623G>A	c.(3622-3624)cGt>cAt	p.R1208H	RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R1159H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R1197H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1208	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATCAATTATACGGTCCTTCAG	0.403			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													98	89	92					8																	38137195		1855	4105	5960	SO:0001583	missense	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3623G>A	8.37:g.38137195C>T	ENSP00000313983:p.Arg1208His		B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R1208H	ENST00000317025.8	37	c.3623	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.439182	0.96168	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	D;D;D	0.89196	-2.48;-2.48;-2.48	5.74	5.74	0.90152	SET domain (3);	0.000000	0.47455	U	0.000227	D	0.93687	0.7983	L	0.60957	1.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93294	0.6671	10	0.56958	D	0.05	.	19.9179	0.97070	0.0:1.0:0.0:0.0	.	1197;1159;1208	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	H	1159;1208;1145;1197	ENSP00000393284:R1159H;ENSP00000313983:R1208H;ENSP00000434730:R1197H	ENSP00000313983:R1208H	R	-	2	0	WHSC1L1	38256352	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.818000	0.86416	2.723000	0.93209	0.655000	0.94253	CGT	WHSC1L1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000147548		0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0	94	0	C	NM_023034		38137195	-1	tier1	-	no_errors	ENST00000317025	ensembl	human	known	74_37	missense	9.43	47	5	SNP	1.000	T	T	38137195	C	T	38137195	3	4	81	1	0	0	0	0	1	0	0	0	17412	536	19	1	706	1	WHSC1L1	8	38137195	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	4730259	38137195	108226827	116	21383											
PDE7A	5150	genome.wustl.edu	37	chr8	66631622	66631622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctctgcagtcccttcCagctggctttattcagcccc	4	14	7	16	0	3	0	1	0	2	0	6	0	5	0	4	1	3	4	4	1	1	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:66631622C>T	ENST00000401827.3	-	13	1795	c.1352G>A	c.(1351-1353)tGg>tAg	p.W451*	PDE7A_ENST00000379419.4_Nonsense_Mutation_p.W425*	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	451	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	CAGTCCCTTCCAGCTGGCTTT	0.468																																																	0													132	114	120					8																	66631622		2203	4300	6503	SO:0001587	stop_gained	0			L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"Phosphodiesterases"	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.1352G>A	8.37:g.66631622C>T	ENSP00000385632:p.Trp451*		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.W451*	ENST00000401827.3	37	c.1352	CCDS56538.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.836453|5.836453	0.97009|0.97009	.|.	.|.	ENSG00000066855|ENSG00000205268	ENST00000521247|ENST00000401827;ENST00000379419	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77232|.	0.4100|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73662|.	-0.3912|.	5|.	0.52906|.	T|.	0.07|.	.|.	20.6397|20.6397	0.99537|0.99537	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	130|451;425	.|.	ENSP00000429253:P130L|.	P|W	+|-	2|2	0|0	MTFR1|PDE7A	66794176|66794176	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.729000|7.729000	0.84864|0.84864	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CCA|TGG	PDE7A	-	NULL	ENSG00000205268		0.468	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE7A	HGNC	protein_coding	OTTHUMT00000378905.1	-	0	47	0	C			66631622	-1	tier1	-	no_errors	ENST00000401827	ensembl	human	known	74_37	nonsense	35.00	13	7	SNP	1.000	T	T	66631622	C	T	66631622	4	4	81	1	0	0	0	0	0	1	0	0	11690	595	21	3	100	3	PDE7A	8	66631622	Nonsense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	28494427	66631622	79732400	117	21384											
SULF1	23213	genome.wustl.edu	37	chr8	70476244	70476244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctctggttttggctGtcctgggcacagaattgctg	4	14	14	9	0	1	1	0	0	1	1	2	1	2	1	1	3	2	6	1	3	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:70476244G>T	ENST00000260128.4	+	5	751	c.34G>T	c.(34-36)Gtc>Ttc	p.V12F	SULF1_ENST00000419716.3_Missense_Mutation_p.V12F|SULF1_ENST00000402687.4_Missense_Mutation_p.V12F|SULF1_ENST00000458141.2_Missense_Mutation_p.V12F	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	12					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGTTTTGGCTGTCCTGGGCAC	0.483																																																	0													145	128	134					8																	70476244		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.34G>T	8.37:g.70476244G>T	ENSP00000260128:p.Val12Phe		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.V12F	ENST00000260128.4	37	c.34	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709275	0.48517	.	.	ENSG00000137573	ENST00000525061;ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000534179;ENST00000528783;ENST00000525999	D;D;T;D;D;T;D	0.99060	-5.38;-5.38;0.62;-5.38;-5.38;0.58;-4.88	5.87	3.06	0.35304	.	0.331378	0.28499	N	0.015135	D	0.97315	0.9122	M	0.62723	1.935	0.28346	N	0.921115	B	0.14438	0.01	B	0.11329	0.006	D	0.94541	0.7745	10	0.66056	D	0.02	.	7.7017	0.28627	0.1344:0.2514:0.6142:0.0	.	12	Q8IWU6	SULF1_HUMAN	F	12	ENSP00000403040:V12F;ENSP00000260128:V12F;ENSP00000432178:V12F;ENSP00000385704:V12F;ENSP00000390315:V12F;ENSP00000436949:V12F;ENSP00000431753:V12F	ENSP00000260128:V12F	V	+	1	0	SULF1	70638798	1.000000	0.71417	0.962000	0.40283	0.996000	0.88848	2.038000	0.41184	0.366000	0.24427	0.650000	0.86243	GTC	SULF1	-	pirsf_Extracellular_sulfatase	ENSG00000137573		0.483	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	70	0	G	NM_015170		70476244	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.997	T	T	70476244	G	T	70476244	3	4	81	1	0	0	0	0	1	0	0	0	15417	1377	48	3	36	3	SULF1	8	70476244	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	3844622	70476244	75887778	118	21385											
NCOA2	10499	genome.wustl.edu	37	chr8	71053578	71053578	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctcacagccgaactctGcggtgcccattctccagatg	8	9	9	15	2	3	1	1	0	3	1	5	3	3	1	3	1	4	0	3	1	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:71053578G>A	ENST00000452400.2	-	14	3050	c.2869C>T	c.(2869-2871)Cag>Tag	p.Q957*	NCOA2_ENST00000267974.4_Nonsense_Mutation_p.Q45*	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	957					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GCCGAACTCTGCGGTGCCCAT	0.527			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													57	60	59					8																	71053578		2061	4215	6276	SO:0001587	stop_gained	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2869C>T	8.37:g.71053578G>A	ENSP00000399968:p.Gln957*		Q14CD2	Nonsense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q957*	ENST00000452400.2	37	c.2869	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	G	43	10.205402	0.99359	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	.	.	.	5.64	5.64	0.86602	.	0.334264	0.32175	N	0.006477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	20.0691	0.97712	0.0:0.0:1.0:0.0	.	.	.	.	X	957;45	.	ENSP00000267974:Q45X	Q	-	1	0	NCOA2	71216132	1.000000	0.71417	0.954000	0.39281	0.831000	0.47069	5.482000	0.66833	2.820000	0.97059	0.650000	0.86243	CAG	NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.527	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	-	0	39	0	G			71053578	-1	tier1	-	no_errors	ENST00000452400	ensembl	human	known	74_37	nonsense	29.03	22	9	SNP	0.991	A	A	71053578	G	A	71053578	4	1	81	1	0	0	0	0	0	1	0	0	10268	1328	46	3	1565	3	NCOA2	8	71053578	Nonsense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	577334	71053578	75310444	119	21386											
TRPA1	8989	genome.wustl.edu	37	chr8	72966069	72966069	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtacccgcccatggaCgcatgatgcaaagctgtcca	10	8	11	12	2	0	2	0	2	0	0	1	3	1	3	3	1	3	4	3	1	2	1	rs369662285	byFrequency	TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:72966069C>A	ENST00000262209.4	-	13	1770	c.1563G>T	c.(1561-1563)gcG>gcT	p.A521A	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	521					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CGCCCATGGACGCATGATGCA	0.478																																																	0													71	59	63					8																	72966069		2203	4300	6503	SO:0001819	synonymous_variant	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1563G>T	8.37:g.72966069C>A			A6NIN6	Silent	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A521	ENST00000262209.4	37	c.1563	CCDS34908.1	8																																																																																			TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.478	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	49	0	C	NM_007332		72966069	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	silent	33.33	30	15	SNP	0.834	A	A	72966069	C	A	72966069	2	1	81	1	0	0	0	0	0	0	0	1	16625	523	19	2		2	TRPA1	8	72966069	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1912491	72966069	73397953	120	21387											
PGCP	10404	genome.wustl.edu	37	chr8	97797433	97797433	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaagatgggctggagaaagTtcacctggagccagtgagaa	13	6	15	7	0	1	3	1	1	0	3	1	6	1	4	2	3	1	3	2	3	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:97797433T>G	ENST00000220763.5	+	2	518	c.308T>G	c.(307-309)gTt>gGt	p.V103G		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	103					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CTGGAGAAAGTTCACCTGGAG	0.498																																																	0													76	72	74					8																	97797433		2203	4300	6503	SO:0001583	missense	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.308T>G	8.37:g.97797433T>G	ENSP00000220763:p.Val103Gly		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.V103G	ENST00000220763.5	37	c.308	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652736	0.47362	.	.	ENSG00000104324	ENST00000220763;ENST00000519900;ENST00000517742;ENST00000519484;ENST00000521142	T;T	0.59906	0.32;0.23	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.88181	2.935	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.83950	0.0316	10	0.66056	D	0.02	-8.8489	15.8741	0.79148	0.0:0.0:0.0:1.0	.	103;103	B5MDX4;Q9Y646	.;PGCP_HUMAN	G	103	ENSP00000220763:V103G;ENSP00000429146:V103G	ENSP00000220763:V103G	V	+	2	0	AC010859.1	97866609	1.000000	0.71417	0.992000	0.48379	0.282000	0.26991	5.527000	0.67123	2.154000	0.67381	0.533000	0.62120	GTT	CPQ	-	NULL	ENSG00000104324		0.498	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	-	0	47	0	T	NM_016134		97797433	1	tier1	-	no_errors	ENST00000220763	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.979	G	G	97797433	T	G	97797433	3	3	81	1	0	0	0	0	1	0	0	0	11825	1725	60	4	310	4	PGCP	8	97797433	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	24831364	97797433	48566589	121	21388											
ZFPM2	23414	genome.wustl.edu	37	chr8	106646475	106646475	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatcattctttctacagaAgacaaaggctcaggtcccaa	13	11	7	10	0	4	2	2	0	2	2	5	2	5	2	1	2	1	2	1	2	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:106646475A>C	ENST00000407775.2	+	5	672	c.422A>C	c.(421-423)aAg>aCg	p.K141T	ZFPM2_ENST00000520492.1_Splice_Site_p.K9T|ZFPM2_ENST00000517361.1_Splice_Site_p.K9T	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	141					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTCTACAGAAGACAAAGGCT	0.383																																																	0													76	72	73					8																	106646475		1960	4162	6122	SO:0001630	splice_region_variant	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.421-1A>C	8.37:g.106646475A>C			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K141T	ENST00000407775.2	37	c.422	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	A	20.6	4.023438	0.75390	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000520027;ENST00000517361	T;T;T	0.21361	2.01;2.26;2.26	5.56	5.56	0.83823	.	0.121923	0.52532	D	0.000061	T	0.35278	0.0926	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.07404	-1.0774	10	0.51188	T	0.08	.	16.021	0.80493	1.0:0.0:0.0:0.0	.	141	Q8WW38	FOG2_HUMAN	T	141;9;9;9	ENSP00000384179:K141T;ENSP00000430757:K9T;ENSP00000428720:K9T	ENSP00000384179:K141T	K	+	2	0	ZFPM2	106715651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.240000	0.73641	0.533000	0.62120	AAG	ZFPM2	-	NULL	ENSG00000169946		0.383	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	59	0	A		Missense_Mutation	106646475	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	C	C	106646475	A	C	106646475	5	2	81	1	0	0	0	0	0	0	1	0	17706	86	3	4	440	4	ZFPM2	8	106646475	Splice_Site	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	8849042	106646475	39717547	122	21389											
ADCY8	114	genome.wustl.edu	37	chr8	131833649	131833649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtagcagtgatacctccTtggtccccaggaaatctctg	9	11	9	12	0	2	1	1	1	1	0	5	2	4	2	4	2	2	2	4	2	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:131833649T>A	ENST00000286355.5	-	13	4785	c.2693A>T	c.(2692-2694)aAg>aTg	p.K898M	ADCY8_ENST00000377928.3_Missense_Mutation_p.K767M	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	898					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGATACCTCCTTGGTCCCCAG	0.478										HNSCC(32;0.087)																																							0													93	74	81					8																	131833649		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2693A>T	8.37:g.131833649T>A	ENSP00000286355:p.Lys898Met			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K898M	ENST00000286355.5	37	c.2693	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313162	0.81358	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.80653	-1.4;-1.37	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.85622	0.5739	L	0.53249	1.67	0.41831	D	0.990073	P;D	0.69078	0.467;0.997	B;P	0.59221	0.357;0.854	D	0.87152	0.2209	10	0.72032	D	0.01	.	15.5593	0.76229	0.0:0.0:0.0:1.0	.	767;898	E7EVL1;P40145	.;ADCY8_HUMAN	M	898;767	ENSP00000286355:K898M;ENSP00000367161:K767M	ENSP00000286355:K898M	K	-	2	0	ADCY8	131902831	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.571000	0.82399	2.277000	0.76020	0.528000	0.53228	AAG	ADCY8	-	NULL	ENSG00000155897		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	60	0	T			131833649	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	A	A	131833649	T	A	131833649	3	1	81	1	0	0	0	0	1	0	0	0	300	1609	56	5	1086	5	ADCY8	8	131833649	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	25187174	131833649	14530373	123	21390											
EFR3A	23167	genome.wustl.edu	37	chr8	132958779	132958779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacttctcatggcttgcCattctcaaagcattaagcca	12	11	5	13	0	2	0	2	0	2	0	4	0	2	0	3	1	4	2	3	1	3	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:132958779C>T	ENST00000254624.5	+	4	490	c.265C>T	c.(265-267)Cat>Tat	p.H89Y	EFR3A_ENST00000519656.1_Missense_Mutation_p.H53Y|EFR3A_ENST00000334503.4_Missense_Mutation_p.H89Y	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	89						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CATGGCTTGCCATTCTCAAAG	0.408																																																	0													88	76	80					8																	132958779		2202	4300	6502	SO:0001583	missense	0			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.265C>T	8.37:g.132958779C>T	ENSP00000254624:p.His89Tyr		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H89Y	ENST00000254624.5	37	c.265	CCDS34942.2	8	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917739	0.73098	.	.	ENSG00000132294	ENST00000254624;ENST00000522709;ENST00000377917;ENST00000334503;ENST00000519656	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	M	0.79805	2.47	0.80722	D	1	P	0.45240	0.854	P	0.55923	0.787	T	0.47983	-0.9074	10	0.87932	D	0	-21.9556	18.3132	0.90208	0.0:1.0:0.0:0.0	.	89	Q14156	EFR3A_HUMAN	Y	89;53;89;89;53	ENSP00000254624:H89Y;ENSP00000430512:H53Y;ENSP00000334769:H89Y;ENSP00000428086:H53Y	ENSP00000254624:H89Y	H	+	1	0	EFR3A	133027961	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.743000	0.85020	2.572000	0.86782	0.655000	0.94253	CAT	EFR3A	-	superfamily_ARM-type_fold	ENSG00000132294		0.408	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	-	0	77	0	C	NM_015137		132958779	1	tier1	-	no_errors	ENST00000254624	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	132958779	C	T	132958779	3	4	81	1	0	0	0	0	1	0	0	0	4972	594	21	3	279	3	EFR3A	8	132958779	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1125130	132958779	13405243	124	21391											
PLEC	5339	genome.wustl.edu	37	chr8	144994004	144994004	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccgtccttgagctgctCaaactgggctctgctgagga	6	11	12	12	1	2	2	1	2	1	0	3	3	3	3	2	2	5	4	2	2	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr8:144994004C>A	ENST00000322810.4	-	32	10565	c.10396G>T	c.(10396-10398)Gag>Tag	p.E3466*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.E3329*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E3333*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E3307*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E3329*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E3297*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E3356*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E3315*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E3352*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3466	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGAGCTGCTCAAACTGGGCT	0.677																																																	0													30	35	33					8																	144994004		2039	4189	6228	SO:0001587	stop_gained	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10396G>T	8.37:g.144994004C>A	ENSP00000323856:p.Glu3466*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E3466*	ENST00000322810.4	37	c.10396	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	52	19.672554	0.99922	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.11	4.22	0.49857	.	0.166540	0.37261	U	0.002164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.1655	0.72821	0.0:0.8577:0.1423:0.0	.	.	.	.	X	3329;3333;3329;3297;3466;3307;3315;3356;3352	.	ENSP00000323856:E3466X	E	-	1	0	PLEC	145065992	0.994000	0.37717	0.973000	0.42090	0.974000	0.67602	2.686000	0.46968	1.112000	0.41740	0.448000	0.29417	GAG	PLEC	-	NULL	ENSG00000178209		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	62	0	C	NM_000445		144994004	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	0.999	A	A	144994004	C	A	144994004	4	1	81	1	0	0	0	0	0	1	0	0	12091	835	29	3	3662	3	PLEC	8	144994004	Nonsense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	12035225	144994004	1370018	125	21392											
DOCK8	81704	genome.wustl.edu	37	chr9	422084	422084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctaaatgaaaatttgaGatggaagaaagagcagacac	19	6	11	5	0	0	5	0	2	0	4	0	7	0	6	1	2	1	1	1	2	6	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:422084G>T	ENST00000453981.1	+	33	4302	c.4190G>T	c.(4189-4191)aGa>aTa	p.R1397I	DOCK8_ENST00000469391.1_Missense_Mutation_p.R1297I|DOCK8_ENST00000432829.2_Missense_Mutation_p.R1329I|DOCK8_ENST00000382329.1_Missense_Mutation_p.R864I|DOCK8_ENST00000493666.2_3'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1397					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAAAATTTGAGATGGAAGAAA	0.408																																																	0													89	87	88					9																	422084		2203	4300	6503	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4190G>T	9.37:g.422084G>T	ENSP00000408464:p.Arg1397Ile		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.R1397I	ENST00000453981.1	37	c.4190	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	G	34	5.400041	0.96030	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77391	0.4123	M	0.86953	2.85	0.80722	D	1	D;D;D	0.58268	0.982;0.982;0.982	D;D;D	0.65987	0.921;0.94;0.921	T	0.79607	-0.1733	10	0.72032	D	0.01	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	1297;864;1397	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	I	1397;1365;1329;1297;864	ENSP00000408464:R1397I;ENSP00000394888:R1329I;ENSP00000419438:R1297I;ENSP00000371766:R864I	ENSP00000287364:R1365I	R	+	2	0	DOCK8	412084	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.254000	0.95512	2.827000	0.97445	0.650000	0.86243	AGA	DOCK8	-	NULL	ENSG00000107099		0.408	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0	36	0	G	XM_036307		422084	1	tier1	-	no_errors	ENST00000453981	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	T	T	422084	G	T	422084	3	4	81	1	0	0	0	0	1	0	0	0	4707	942	33	3	4320	3	DOCK8	9	422084	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		422084	140791347	126	21393											
CDKN2A	1029	genome.wustl.edu	37	chr9	21970901	21970901	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatcatcagtcctcacCtgagggaccttccgcggcat	8	9	9	15	2	4	2	4	1	0	1	6	3	6	3	4	2	0	1	4	2	0	1	rs45476696		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:21970901C>T	ENST00000304494.5	-	2	727	c.457G>A	c.(457-459)Gac>Aac	p.D153N	CDKN2A_ENST00000497750.1_Missense_Mutation_p.G102S|CDKN2A_ENST00000446177.1_Splice_Site_p.E153K|CDKN2A_ENST00000494262.1_Splice_Site_p.D102N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498628.2_Splice_Site_p.D102N|CDKN2A_ENST00000578845.2_Splice_Site_p.D102N|CDKN2A_ENST00000498124.1_Splice_Site_p.E153K|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000479692.2_Splice_Site_p.V102I|CDKN2A_ENST00000579122.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	153					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(16)|p.D153N(1)|p.0(1)|p.E153K(1)|p.D153Y(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTCCTCACCTGAGGGACCT	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1335	Whole gene deletion(1316)|Unknown(16)|Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|breast(31)|kidney(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CS972842	CDKN2A	S	rs45476696						34	35	34					9																	21970901		2203	4300	6503	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1G>A	9.37:g.21970901C>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.E153K	ENST00000304494.5	37	c.457	CCDS6510.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.26|10.26	1.301003|1.301003	0.23650|0.23650	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494|ENST00000446177	T|T	0.78126|0.76578	-1.15|-1.03	4.21|4.21	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.75140|0.75140	0.3809|0.3809	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B|.	0.13594|.	0.008|.	B|.	0.12156|.	0.007|.	T|T	0.74266|0.74266	-0.3721|-0.3721	9|7	0.66056|0.48119	D|T	0.02|0.1	.|.	9.7139|9.7139	0.40263|0.40263	0.2066:0.7934:0.0:0.0|0.2066:0.7934:0.0:0.0	rs45476696|rs45476696	153|.	P42771|.	CD2A1_HUMAN|.	N|K	153|153	ENSP00000307101:D153N|ENSP00000394932:E153K	ENSP00000307101:D153N|ENSP00000394932:E153K	D|E	-|-	1|1	0|0	CDKN2A|CDKN2A	21960901|21960901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.015000|0.015000	0.08874|0.08874	3.892000|3.892000	0.56235|0.56235	1.376000|1.376000	0.46267|0.46267	-0.122000|-0.122000	0.15005|0.15005	GAC|GAA	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000147889		0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	74	0	C	NM_000077	Missense_Mutation	21970901	-1	tier1	rs45476696	no_errors	ENST00000446177	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.995	T	T	21970901	C	T	21970901	5	4	81	1	0	0	0	0	0	0	1	0	3168	695	24	3	21	3	CDKN2A	9	21970901	Splice_Site	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	21548817	21970901	119242530	127	21394											
DNAI1	27019	genome.wustl.edu	37	chr9	34491532	34491532	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctcctcccaggacaaacTtttcagccacagccaatcag	12	7	6	16	0	2	0	2	0	0	0	4	1	4	1	5	1	4	0	5	1	2	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:34491532T>G	ENST00000242317.4	+	8	832	c.661T>G	c.(661-663)Ttt>Gtt	p.F221V	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	221					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGGACAAACTTTTCAGCCAC	0.493									Kartagener syndrome																																								0													100	88	93					9																	34491532		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.661T>G	9.37:g.34491532T>G	ENSP00000242317:p.Phe221Val		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F221V	ENST00000242317.4	37	c.661	CCDS6557.1	9	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399679	0.83120	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.76186	-1.0;-1.0	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.78637	2.42	0.80722	D	1	P	0.42010	0.768	B	0.41088	0.347	T	0.72453	-0.4289	10	0.26408	T	0.33	.	11.0419	0.47835	0.0:0.0:0.0:1.0	.	221	Q9UI46	DNAI1_HUMAN	V	210;221;210	ENSP00000242317:F221V;ENSP00000395396:F210V	ENSP00000242317:F221V	F	+	1	0	DNAI1	34481532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.362000	0.73077	1.925000	0.55765	0.459000	0.35465	TTT	DNAI1	-	NULL	ENSG00000122735		0.493	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	HGNC	protein_coding	OTTHUMT00000052192.1	-	0	114	0	T			34491532	1	tier1	-	no_errors	ENST00000242317	ensembl	human	known	74_37	missense	10.84	74	9	SNP	1.000	G	G	34491532	T	G	34491532	3	3	81	1	0	0	0	0	1	0	0	0	4623	1609	56	4	691	4	DNAI1	9	34491532	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	12520631	34491532	106721899	128	21395											
FAM75A6	389730	genome.wustl.edu	37	chr9	43625456	43625456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctcttgcaccagtttGctccttctggctgccatgag	4	13	10	14	0	2	1	0	1	2	0	4	1	4	1	4	2	3	5	4	2	0	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:43625456G>T	ENST00000332857.6	-	4	3259	c.3231C>A	c.(3229-3231)agC>agA	p.S1077R	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1077					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCACCAGTTTGCTCCTTCTGG	0.532																																																	0													13	11	12					9																	43625456		611	1516	2127	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3231C>A	9.37:g.43625456G>T	ENSP00000329825:p.Ser1077Arg			Missense_Mutation	SNP	NULL	p.S1077R	ENST00000332857.6	37	c.3231	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	G	5.068	0.198204	0.09652	.	.	ENSG00000185775	ENST00000332857	T	0.04502	3.61	2.44	-4.88	0.03113	.	1.184840	0.06072	N	0.660300	T	0.03520	0.0101	L	0.31526	0.94	0.09310	N	1	B	0.28636	0.218	B	0.33254	0.16	T	0.40059	-0.9583	10	0.34782	T	0.22	.	0.9884	0.01451	0.3696:0.3007:0.1787:0.1511	.	1077	Q5VVP1	F75A6_HUMAN	R	1077	ENSP00000329825:S1077R	ENSP00000329825:S1077R	S	-	3	2	FAM75A6	43565452	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.385000	0.01062	-1.743000	0.01340	-0.559000	0.04183	AGC	SPATA31A6	-	NULL	ENSG00000185775		0.532	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0	292	0	G	NM_001145196		43625456	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	16.28	108	21	SNP	0.000	T	T	43625456	G	T	43625456	3	4	81	1	0	0	0	0	1	0	0	0	5644	1310	46	3	804	3	FAM75A6	9	43625456	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	9133924	43625456	97587975	129	21396											
FLJ46321	389763	genome.wustl.edu	37	chr9	84609276	84609276	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaacagagtgagtcctgtGagacccaaaggaggagagct	14	6	14	7	0	0	4	0	2	0	3	1	7	1	5	2	2	2	2	2	2	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:84609276G>C	ENST00000344803.2	+	4	3938	c.3891G>C	c.(3889-3891)gtG>gtC	p.V1297V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1297					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGAGTCCTGTGAGACCCAAAG	0.547																																																	0													37	38	38					9																	84609276		1943	4143	6086	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3891G>C	9.37:g.84609276G>C				Silent	SNP	NULL	p.V1297	ENST00000344803.2	37	c.3891	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL	ENSG00000214929		0.547	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1		0	75	0	G	NM_001001670		84609276	1			no_errors	ENST00000344803	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.000	C	C	84609276	G	C	84609276	2	2	81	1	0	0	0	0	0	0	0	1	5954	1277	45	5		5	FLJ46321	9	84609276	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	40983820	84609276	56604155	130	21397											
FAM22G	441457	genome.wustl.edu	37	chr9	99699643	99699643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagacccgggcctcctgaGctacattgacaagctgtgtt	8	10	10	13	1	1	3	1	2	0	1	2	3	2	3	3	1	3	3	3	1	2	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:99699643G>C	ENST00000372322.3	+	5	1301	c.1280G>C	c.(1279-1281)aGc>aCc	p.S427T	NUTM2G_ENST00000354649.3_Missense_Mutation_p.S427T|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	427																	GGCCTCCTGAGCTACATTGAC	0.602																																																	0													83	96	92					9																	99699643		1992	4156	6148	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1280G>C	9.37:g.99699643G>C	ENSP00000361397:p.Ser427Thr		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.S427T	ENST00000372322.3	37	c.1280	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	13.06	2.122907	0.37436	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.29397	1.57;2.34	1.33	1.33	0.21861	.	0.278775	0.31123	N	0.008205	T	0.44993	0.1320	M	0.62266	1.93	0.20764	N	0.999859	D	0.76494	0.999	D	0.83275	0.996	T	0.08126	-1.0737	10	0.62326	D	0.03	.	6.1314	0.20207	0.0:0.0:1.0:0.0	.	427	Q5VZR2-2	.	T	427;427;276;308	ENSP00000346670:S427T;ENSP00000361397:S427T	ENSP00000346670:S427T	S	+	2	0	FAM22G	98739464	0.802000	0.28943	0.496000	0.27539	0.279000	0.26890	0.272000	0.18644	1.087000	0.41251	0.473000	0.43528	AGC	NUTM2G	-	NULL	ENSG00000188152		0.602	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2G	HGNC	protein_coding	OTTHUMT00000053291.2	-	0	142	0	G	NM_001170741		99699643	1	tier1	-	no_errors	ENST00000372322	ensembl	human	known	74_37	missense	9.46	67	7	SNP	0.527	C	C	99699643	G	C	99699643	3	2	81	1	0	0	0	0	1	0	0	0	5565	971	34	5	1298	5	FAM22G	9	99699643	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	15090367	99699643	41513788	131	21398											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100077198	100077198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctacctcatgcggcccgaAgtgtacaggctgataaatga	11	9	10	11	2	1	2	1	2	0	0	2	3	2	2	3	2	3	2	3	2	5	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:100077198A>G	ENST00000357054.1	+	22	2249	c.1314A>G	c.(1312-1314)gaA>gaG	p.E438E	CCDC180_ENST00000529487.1_Silent_p.E299E|CCDC180_ENST00000375202.2_Silent_p.E299E|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.E438E|CCDC180_ENST00000411667.2_Silent_p.E296E			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	438						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGCGGCCCGAAGTGTACAGGC	0.507																																																	0													83	79	80					9																	100077198		2203	4300	6503	SO:0001819	synonymous_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1314A>G	9.37:g.100077198A>G			Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.E299	ENST00000357054.1	37	c.897		9																																																																																			CCDC180	-	NULL	ENSG00000197816		0.507	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0	23	0	A	NM_020893		100077198	1	tier1	-	no_errors	ENST00000375202	ensembl	human	known	74_37	silent	37.50	10	6	SNP	0.485	G	G	100077198	A	G	100077198	2	3	81	1	0	0	0	0	0	0	0	1	8267	69	3	4		4	KIAA1529	9	100077198	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	377555	100077198	41136233	132	21399											
GAPVD1	26130	genome.wustl.edu	37	chr9	128094797	128094797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttttaaaggcataagtGcaacctctgaggatattccc	11	14	8	8	0	1	1	0	1	1	0	2	2	2	2	2	2	2	3	2	2	5	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:128094797G>C	ENST00000495955.1	+	15	2607	c.2317G>C	c.(2317-2319)Gca>Cca	p.A773P	GAPVD1_ENST00000297933.6_Missense_Mutation_p.A773P|GAPVD1_ENST00000312123.9_Missense_Mutation_p.A752P|GAPVD1_ENST00000265956.4_Missense_Mutation_p.A773P|GAPVD1_ENST00000394105.2_Missense_Mutation_p.A773P|GAPVD1_ENST00000394104.2_Missense_Mutation_p.A773P|GAPVD1_ENST00000394083.2_Missense_Mutation_p.A752P|GAPVD1_ENST00000470056.1_Missense_Mutation_p.A773P			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	773					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A773S(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGCATAAGTGCAACCTCTGA	0.358																																																	1	Substitution - Missense(1)	skin(1)											80	85	83					9																	128094797		2203	4300	6503	SO:0001583	missense	0				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2317G>C	9.37:g.128094797G>C	ENSP00000419063:p.Ala773Pro		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.A773P	ENST00000495955.1	37	c.2317		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.520011|4.520011	0.85495|0.85495	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	T;T;T;T;T;T;T;T;T|.	0.15834|.	2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39;2.39|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.51398|0.51398	0.1672|0.1672	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;0.998;0.999;0.999;0.999;1.0|.	D;D;D;D;D;D|.	0.83275|.	0.994;0.987;0.991;0.991;0.991;0.996|.	T|T	0.45175|0.45175	-0.9279|-0.9279	10|5	0.31617|.	T|.	0.26|.	.|.	18.8022|18.8022	0.92022|0.92022	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	773;773;773;752;773;773|.	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	.;GAPD1_HUMAN;.;.;.;.|.	P|S	773;773;773;773;752;773;773;773;752|609	ENSP00000419767:A773P;ENSP00000377665:A773P;ENSP00000377664:A773P;ENSP00000265956:A773P;ENSP00000377645:A752P;ENSP00000419063:A773P;ENSP00000418747:A773P;ENSP00000297933:A773P;ENSP00000309582:A752P|.	ENSP00000265956:A773P|.	A|C	+|+	1|2	0|0	GAPVD1|GAPVD1	127134618|127134618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.869000|9.869000	0.99810|0.99810	2.697000|2.697000	0.92050|0.92050	0.555000|0.555000	0.69702|0.69702	GCA|TGC	GAPVD1	-	NULL	ENSG00000165219		0.358	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	HGNC	protein_coding	OTTHUMT00000355644.1		0	47	0	G			128094797	1			no_errors	ENST00000394105	ensembl	human	known	74_37	missense	15.38	11	2	SNP	1.000	C	C	128094797	G	C	128094797	3	2	81	1	0	0	0	0	1	0	0	0	6264	1319	46	5	2363	5	GAPVD1	9	128094797	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	28017599	128094797	13118634	133	21400											
FPGS	2356	genome.wustl.edu	37	chr9	130566932	130566932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggctccacctgtgccttCacggaatgtatcctccgaag	9	9	10	13	2	1	0	1	0	0	0	4	2	4	1	5	2	1	2	5	2	4	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:130566932C>T	ENST00000373247.2	+	4	389	c.339C>T	c.(337-339)ttC>ttT	p.F113F	FPGS_ENST00000393706.2_Silent_p.F113F|FPGS_ENST00000373245.1_Silent_p.F113F|FPGS_ENST00000373225.3_Silent_p.F63F|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	113					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CCTGTGCCTTCACGGAATGTA	0.577																																																	0													96	97	97					9																	130566932		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.339C>T	9.37:g.130566932C>T			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.F113	ENST00000373247.2	37	c.339	CCDS35148.1	9																																																																																			FPGS	-	superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth	ENSG00000136877		0.577	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1		0	93	0	C			130566932	1			no_errors	ENST00000373247	ensembl	human	known	74_37	silent	10.64	42	5	SNP	1.000	T	T	130566932	C	T	130566932	2	4	81	1	0	0	0	0	0	0	0	1	6060	825	29	3		3	FPGS	9	130566932	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2472135	130566932	10646499	134	21401											
WDR34	89891	genome.wustl.edu	37	chr9	131403128	131403128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgcacgctgacaggcaCgggggcctccgtctgcacct	5	6	15	15	3	1	1	0	1	1	0	2	1	2	1	3	4	2	5	3	4	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:131403128C>T	ENST00000372715.2	-	2	337	c.277G>A	c.(277-279)Gtg>Atg	p.V93M		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	93						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CTGACAGGCACGGGGGCCTCC	0.627																																																	0													49	45	47					9																	131403128		2203	4300	6503	SO:0001583	missense	0			BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.277G>A	9.37:g.131403128C>T	ENSP00000361800:p.Val93Met		Q5VXV4|Q9BV46	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V93M	ENST00000372715.2	37	c.277	CCDS6906.2	9	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785852	0.31593	.	.	ENSG00000119333	ENST00000372715;ENST00000451652;ENST00000419989	T	0.64618	-0.11	5.33	0.907	0.19321	.	2.809240	0.01365	N	0.012372	T	0.48909	0.1526	N	0.22421	0.69	0.09310	N	1	B;B	0.19583	0.007;0.037	B;B	0.11329	0.004;0.006	T	0.35475	-0.9787	10	0.46703	T	0.11	12.1484	6.1254	0.20176	0.1287:0.495:0.0:0.3763	.	78;93	A2A3F8;Q96EX3	.;WDR34_HUMAN	M	93;84;78	ENSP00000361800:V93M	ENSP00000361800:V93M	V	-	1	0	WDR34	130442949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.008000	0.12788	0.258000	0.21686	-0.140000	0.14226	GTG	WDR34	-	NULL	ENSG00000119333		0.627	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR34	HGNC	protein_coding	OTTHUMT00000054463.1	-	0	55	0	C	NM_052844		131403128	-1	tier1	-	no_errors	ENST00000372715	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.000	T	T	131403128	C	T	131403128	3	4	81	1	0	0	0	0	1	0	0	0	17337	536	19	1	1365	1	WDR34	9	131403128	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	836196	131403128	9810303	135	21402											
CRAT	1384	genome.wustl.edu	37	chr9	131862207	131862207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccgctgcagcatgctcGtacacaagcccacaggagcc	9	5	9	18	2	0	0	0	0	0	0	2	1	1	1	4	1	6	5	4	1	2	1	rs376776814		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:131862207G>A	ENST00000318080.2	-	8	1317	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	CRAT_ENST00000464290.1_5'Flank|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	341					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	CAGCATGCTCGTACACAAGCC	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		17017	0		0	False		,,,				2504	0																0								G		1,4405	2.1+/-5.4	0,1,2202	81	72	75		1023	-10.1	0	9		75	0,8600		0,0,4300	no	coding-synonymous	CRAT	NM_000755.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		341/627	131862207	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"carnitine acetyltransferase"			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1023C>T	9.37:g.131862207G>A			Q5T952|Q9BW16	Silent	SNP	pfam_Carn_acyl_trans	p.Y341	ENST00000318080.2	37	c.1023	CCDS6919.1	9																																																																																			CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1		0	53	0	G			131862207	-1			no_errors	ENST00000318080	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.306	A	A	131862207	G	A	131862207	2	1	81	1	0	0	0	0	0	0	0	1	3854	1140	40	1		1	CRAT	9	131862207	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	459079	131862207	9351224	136	21403											
TTF1	7270	genome.wustl.edu	37	chr9	135273587	135273587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcacagatttttcctcaGgatatctgtccgtgtacagc	9	14	8	10	1	3	2	2	1	1	1	5	3	5	3	2	1	2	1	2	1	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:135273587G>A	ENST00000334270.2	-	4	1757	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	573					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P573H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTTTTCCTCAGGATATCTGTC	0.403																																																	1	Substitution - Missense(1)	lung(1)											166	144	151					9																	135273587		2203	4300	6503	SO:0001583	missense	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1718C>T	9.37:g.135273587G>A	ENSP00000333920:p.Pro573Leu		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.P573L	ENST00000334270.2	37	c.1718	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674887	0.47781	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11821	2.74	5.41	5.41	0.78517	.	0.170516	0.40064	N	0.001195	T	0.31734	0.0806	L	0.51422	1.61	0.53688	D	0.999978	D	0.89917	1.0	D	0.85130	0.997	T	0.00686	-1.1610	10	0.52906	T	0.07	.	14.7151	0.69262	0.0:0.0:1.0:0.0	.	573	Q15361	TTF1_HUMAN	L	573	ENSP00000333920:P573L	ENSP00000245588:P573L	P	-	2	0	TTF1	134263408	1.000000	0.71417	0.943000	0.38184	0.046000	0.14306	4.201000	0.58439	2.539000	0.85634	0.655000	0.94253	CCT	TTF1	-	NULL	ENSG00000125482		0.403	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2		0	100	0	G	NM_007344		135273587	-1			no_errors	ENST00000334270	ensembl	human	known	74_37	missense	9.38	29	3	SNP	0.991	A	A	135273587	G	A	135273587	3	1	81	1	0	0	0	0	1	0	0	0	16767	1000	35	3	1031	3	TTF1	9	135273587	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	3411380	135273587	5939844	137	21404											
MRPS2	51116	genome.wustl.edu	37	chr9	138395457	138395457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggaacagacagccacGcacctccagctggccttgaa	11	5	10	15	1	0	2	0	1	0	1	1	4	1	3	5	2	3	2	5	2	2	1	rs369140380		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:138395457G>A	ENST00000371785.1	+	5	578	c.369G>A	c.(367-369)acG>acA	p.T123T	RP11-426A6.5_ENST00000415062.1_RNA|C9orf116_ENST00000371791.1_5'Flank|MRPS2_ENST00000241600.5_Silent_p.T123T|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	123					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AGACAGCCACGCACCTCCAGC	0.572																																																	0								G		0,4406		0,0,2203	120	90	100		369	-2.5	0	9		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MRPS2	NM_016034.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		123/297	138395457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"Mitochondrial ribosomal proteins / small subunits"	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.369G>A	9.37:g.138395457G>A			Q5T899|Q9BSQ4	Silent	SNP	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom,prints_Ribosomal_S2	p.T123	ENST00000371785.1	37	c.369	CCDS6990.1	9																																																																																			MRPS2	-	pfam_Ribosomal_S2,superfamily_Ribosomal_S2_flav_dom	ENSG00000122140		0.572	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS2	HGNC	protein_coding	OTTHUMT00000054998.1	-	0	32	0	G			138395457	1	tier1	-	no_errors	ENST00000241600	ensembl	human	known	74_37	silent	38.46	8	5	SNP	0.081	A	A	138395457	G	A	138395457	2	1	81	1	0	0	0	0	0	0	0	1	9869	1074	38	1		1	MRPS2	9	138395457	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	3121870	138395457	2817974	138	21405											
LCN9	392399	genome.wustl.edu	37	chr9	138557718	138557718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccagatccctgctacTccaagcattacaggagcccg	9	9	7	16	1	0	1	0	0	0	1	4	2	4	2	5	1	5	2	5	1	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:138557718T>C	ENST00000277526.3	+	6	487	c.487T>C	c.(487-489)Tcc>Ccc	p.S163P	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	163						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TCCCTGCTACTCCAAGCATTA	0.687																																																	0													25	27	26					9																	138557718		1927	4136	6063	SO:0001583	missense	0			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"Lipocalins"	17442	protein-coding gene	gene with protein product	"MUP-like lipocalin", "epididymal-specific lipocalin-9"	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.487T>C	9.37:g.138557718T>C	ENSP00000277526:p.Ser163Pro		C9J5F0|Q6JVE7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin	p.S163P	ENST00000277526.3	37	c.487	CCDS56593.1	9	.	.	.	.	.	.	.	.	.	.	T	11.44	1.640026	0.29157	.	.	ENSG00000148386	ENST00000277526	T	0.18960	2.18	1.77	-0.771	0.11002	Calycin-like (1);	.	.	.	.	T	0.08537	0.0212	N	0.22421	0.69	0.09310	N	1	P	0.43431	0.807	B	0.31290	0.127	T	0.27739	-1.0065	9	0.23302	T	0.38	13.9993	4.132	0.10154	0.0:0.5161:0.0:0.4839	.	163	Q8WX39	LCN9_HUMAN	P	163	ENSP00000277526:S163P	ENSP00000277526:S177P	S	+	1	0	LCN9	137697539	0.000000	0.05858	0.001000	0.08648	0.135000	0.20990	-0.403000	0.07214	-0.077000	0.12752	0.260000	0.18958	TCC	LCN9	-	superfamily_Calycin-like	ENSG00000148386		0.687	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN9	HGNC	protein_coding	OTTHUMT00000410711.1	-	0	48	0	T	NM_001001676		138557718	1	tier1	-	no_errors	ENST00000277526	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.000	C	C	138557718	T	C	138557718	3	2	81	1	0	0	0	0	1	0	0	0	8715	1551	54	4	509	4	LCN9	9	138557718	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	162261	138557718	2655713	139	21406											
EDF1	8721	genome.wustl.edu	37	chr9	139757385	139757385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgctcgattttgccaagcaCctggttattgggtatggccc	6	12	11	12	2	0	0	0	0	0	0	1	1	0	0	4	3	2	4	4	3	3	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr9:139757385C>T	ENST00000224073.1	-	4	385	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	EDF1_ENST00000371648.4_Missense_Mutation_p.V120M|EDF1_ENST00000371649.1_Missense_Mutation_p.V120M	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	120	HTH cro/C1-type. {ECO:0000255|PROSITE- ProRule:PRU00257}.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTGCCAAGCACCTGGTTATTG	0.557																																																	0													152	112	126					9																	139757385		2203	4300	6503	SO:0001583	missense	0			AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"multiprotein bridging factor-1"	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.358G>A	9.37:g.139757385C>T	ENSP00000224073:p.Val120Met		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH	p.V120M	ENST00000224073.1	37	c.358	CCDS7011.1	9	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224924	0.79576	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.65	5.65	0.86999	Lambda repressor-like, DNA-binding (2);Helix-turn-helix type 3 (3);	0.062050	0.64402	D	0.000005	T	0.73822	0.3636	L	0.49350	1.555	0.80722	D	1	P;P	0.50528	0.862;0.936	P;P	0.59288	0.851;0.855	T	0.75139	-0.3423	9	0.87932	D	0	-6.8986	19.7074	0.96079	0.0:1.0:0.0:0.0	.	120;120	O60869-2;O60869	.;EDF1_HUMAN	M	120	.	ENSP00000224073:V120M	V	-	1	0	EDF1	138877206	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	3.529000	0.53532	2.667000	0.90743	0.655000	0.94253	GTG	EDF1	-	pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH	ENSG00000107223		0.557	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDF1	HGNC	protein_coding	OTTHUMT00000055143.1	-	0	70	0	C			139757385	-1	tier1	-	no_errors	ENST00000224073	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	139757385	C	T	139757385	3	4	81	1	0	0	0	0	1	0	0	0	4928	507	18	3	131	3	EDF1	9	139757385	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1199667	139757385	1456046	140	21407											
ITIH2	3698	genome.wustl.edu	37	chr10	7759658	7759658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggagcaaaggtgcagttCgaacttcactaccaggaggt	12	7	12	10	1	1	0	1	0	0	0	2	3	1	2	2	4	4	3	2	4	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:7759658C>T	ENST00000358415.4	+	6	703	c.537C>T	c.(535-537)ttC>ttT	p.F179F	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Silent_p.F168F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	179	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGGTGCAGTTCGAACTTCACT	0.507																																																	0													159	159	159					10																	7759658		2203	4300	6503	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.537C>T	10.37:g.7759658C>T			Q14659|Q15484|Q5T986	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.F179	ENST00000358415.4	37	c.537	CCDS31141.1	10																																																																																			ITIH2	-	pfam_VIT,smart_VIT	ENSG00000151655		0.507	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2		0	56	0	C	NM_002216		7759658	1			no_errors	ENST00000358415	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.999	T	T	7759658	C	T	7759658	2	4	81	1	0	0	0	0	0	0	0	1	7931	883	31	1		1	ITIH2	10	7759658	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09		7759658	127775089	141	21408											
SLC39A12	221074	genome.wustl.edu	37	chr10	18254526	18254526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactttgtccctccagggtGtttgtctgggacaaggaaac	8	13	11	9	0	1	0	0	0	1	0	3	2	3	2	2	3	2	1	2	3	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:18254526G>A	ENST00000377369.2	+	4	931	c.658G>A	c.(658-660)Gtt>Att	p.V220I	SLC39A12_ENST00000377374.4_Missense_Mutation_p.V220I|SLC39A12_ENST00000377371.3_Missense_Mutation_p.V220I|SLC39A12_ENST00000539911.1_Missense_Mutation_p.V86I	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	220					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCTCCAGGGTGTTTGTCTGGG	0.448																																																	0													89	84	86					10																	18254526		2203	4300	6503	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.658G>A	10.37:g.18254526G>A	ENSP00000366586:p.Val220Ile		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.V220I	ENST00000377369.2	37	c.658	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220796	0.39201	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.62639	0.14;0.01;0.14;0.05	6.02	6.02	0.97574	.	0.126782	0.56097	D	0.000033	T	0.63628	0.2527	M	0.77616	2.38	0.44780	D	0.99778	B;B;B	0.24043	0.096;0.058;0.096	B;B;B	0.24006	0.05;0.022;0.05	T	0.58418	-0.7640	10	0.27082	T	0.32	-25.4085	14.6603	0.68865	0.0688:0.0:0.9312:0.0	.	220;220;220	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	I	220;220;220;86;140	ENSP00000366586:V220I;ENSP00000366591:V220I;ENSP00000366588:V220I;ENSP00000440445:V86I	ENSP00000366586:V220I	V	+	1	0	SLC39A12	18294532	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	3.096000	0.50243	2.865000	0.98341	0.655000	0.94253	GTT	SLC39A12	-	NULL	ENSG00000148482		0.448	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	71	0	G	NM_152725		18254526	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	19.35	25	6	SNP	0.992	A	A	18254526	G	A	18254526	3	1	81	1	0	0	0	0	1	0	0	0	14660	1377	48	3	668	3	SLC39A12	10	18254526	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	10494868	18254526	117280221	142	21409											
APBB1IP	54518	genome.wustl.edu	37	chr10	26856357	26856357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggagcaggaggcggggaGcaagatttcatgtcagacct	10	6	17	8	2	2	2	2	0	0	2	2	5	2	5	1	6	2	2	1	6	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:26856357G>A	ENST00000376236.4	+	15	2396	c.1941G>A	c.(1939-1941)gaG>gaA	p.E647E		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	647					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GAGGCGGGGAGCAAGATTTCA	0.627																																																	0													42	39	40					10																	26856357		2203	4300	6503	SO:0001819	synonymous_variant	0			AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"Pleckstrin homology (PH) domain containing"	17379	protein-coding gene	gene with protein product	"Rap1-GTP-interacting adaptor molecule"	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1941G>A	10.37:g.26856357G>A			Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc	p.E647	ENST00000376236.4	37	c.1941	CCDS31167.1	10	.	.	.	.	.	.	.	.	.	.	G	1.856	-0.463780	0.04476	.	.	ENSG00000077420	ENST00000445780	.	.	.	5.47	3.37	0.38596	.	.	.	.	.	T	0.58581	0.2132	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60541	-0.7243	5	0.66056	D	0.02	.	4.4302	0.11524	0.4216:0.0:0.5784:0.0	.	.	.	.	T	591	.	ENSP00000412699:A591T	A	+	1	0	APBB1IP	26896363	1.000000	0.71417	0.979000	0.43373	0.117000	0.20001	0.963000	0.29293	1.311000	0.45024	0.655000	0.94253	GCA	APBB1IP	-	NULL	ENSG00000077420		0.627	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	APBB1IP	HGNC	protein_coding	OTTHUMT00000047270.1	-	0	36	0	G	NM_019043		26856357	1	tier1	-	no_errors	ENST00000376236	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.999	A	A	26856357	G	A	26856357	2	1	81	1	0	0	0	0	0	0	0	1	760	962	34	3		3	APBB1IP	10	26856357	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	8601831	26856357	108678390	143	21410											
ARMC4	55130	genome.wustl.edu	37	chr10	28151508	28151508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcagtaaattgacaataAgttccaaaccaccaacaaag	19	9	4	9	0	1	1	1	1	0	0	2	1	2	1	3	0	2	2	3	0	7	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:28151508A>G	ENST00000305242.5	-	18	2746	c.2654T>C	c.(2653-2655)cTt>cCt	p.L885P	ARMC4_ENST00000545014.1_Missense_Mutation_p.L410P|ARMC4_ENST00000537576.1_Missense_Mutation_p.L577P	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	885					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTGACAATAAGTTCCAAACC	0.343																																																	0													104	97	99					10																	28151508		2203	4300	6503	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2654T>C	10.37:g.28151508A>G	ENSP00000306410:p.Leu885Pro		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.L885P	ENST00000305242.5	37	c.2654	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731490	0.69189	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.96011	-3.88;-3.88;-3.88	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.059733	0.64402	D	0.000002	D	0.96583	0.8885	M	0.80847	2.515	0.80722	D	1	P;P	0.50943	0.884;0.94	P;B	0.51974	0.686;0.41	D	0.96009	0.9000	10	0.37606	T	0.19	-23.773	16.0755	0.80965	1.0:0.0:0.0:0.0	.	410;885	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	P	577;885;410	ENSP00000443208:L577P;ENSP00000306410:L885P;ENSP00000441076:L410P	ENSP00000306410:L885P	L	-	2	0	ARMC4	28191514	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.489000	0.81451	2.182000	0.69389	0.528000	0.53228	CTT	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000169126		0.343	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	-	0	67	0	A	NM_018076		28151508	-1	tier1	-	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	27.66	34	13	SNP	1.000	G	G	28151508	A	G	28151508	3	3	81	1	0	0	0	0	1	0	0	0	954	72	3	4	492	4	ARMC4	10	28151508	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1295151	28151508	107383239	144	21411											
SVIL	6840	genome.wustl.edu	37	chr10	29747401	29747401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatagatctcaagcttcaGaggatcgaccccctccggga	11	7	11	12	2	2	3	2	0	1	3	5	7	3	5	3	2	1	1	3	2	2	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:29747401G>C	ENST00000355867.4	-	37	7272	c.6520C>G	c.(6520-6522)Ctg>Gtg	p.L2174V	PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.L1748V|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.L2174V|SVIL_ENST00000535393.1_Missense_Mutation_p.L1088V|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000430295.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2174	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCAAGCTTCAGAGGATCGACC	0.582																																																	0													43	45	44					10																	29747401		2203	4299	6502	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6520C>G	10.37:g.29747401G>C	ENSP00000348128:p.Leu2174Val		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.L2174V	ENST00000355867.4	37	c.6520	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457263	0.43634	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.19938	2.11;2.11;2.11;2.11	4.39	3.48	0.39840	Villin headpiece (3);	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	M	0.84511	2.7	0.80722	D	1	D;P;P	0.54772	0.968;0.533;0.737	P;P;B	0.61201	0.885;0.479;0.393	T	0.44620	-0.9316	10	0.59425	D	0.04	-3.6183	9.7855	0.40673	0.168:0.0:0.832:0.0	.	1088;1748;2174	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	V	1748;2174;2174;1088	ENSP00000364549:L1748V;ENSP00000364547:L2174V;ENSP00000348128:L2174V;ENSP00000445472:L1088V	ENSP00000348128:L2174V	L	-	1	2	SVIL	29787407	1.000000	0.71417	0.698000	0.30274	0.046000	0.14306	5.409000	0.66374	1.059000	0.40554	0.644000	0.83932	CTG	SVIL	-	superfamily_Villin_headpiece,pfscan_Villin_headpiece	ENSG00000197321		0.582	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1		0	37	0	G			29747401	-1			no_errors	ENST00000355867	ensembl	human	known	74_37	missense	16.67	10	2	SNP	1.000	C	C	29747401	G	C	29747401	3	2	81	1	0	0	0	0	1	0	0	0	15468	933	33	5	132	5	SVIL	10	29747401	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	1595893	29747401	105787346	145	21412											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37421265	37421265	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgcgaatgcagttaataAgtataaatggtatagtagtt	17	13	9	2	1	0	0	0	0	0	0	0	1	0	0	0	1	2	6	0	1	10	8			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:37421265A>C	ENST00000602533.1	+	4	539	c.440A>C	c.(439-441)aAg>aCg	p.K147T	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K147T|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K147T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	203					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCAGTTAATAAGTATAAATGG	0.294																																																	0													46	44	45					10																	37421265		1790	4048	5838	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.440A>C	10.37:g.37421265A>C	ENSP00000473551:p.Lys147Thr		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K147T	ENST00000602533.1	37	c.440		10	.	.	.	.	.	.	.	.	.	.	.	9.175	1.022011	0.19433	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.72167	-0.2;-0.63	2.37	-0.435	0.12279	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.52075	0.1712	L	0.46614	1.455	0.09310	N	1	P	0.41748	0.761	B	0.33846	0.171	T	0.40905	-0.9538	9	0.31617	T	0.26	.	2.8849	0.05658	0.5709:0.2614:0.1676:0.0	.	203	Q9BXX3	AN30A_HUMAN	T	147	ENSP00000354432:K147T;ENSP00000363792:K147T	ENSP00000354432:K147T	K	+	2	0	ANKRD30A	37461271	0.004000	0.15560	0.002000	0.10522	0.033000	0.12548	0.082000	0.14847	0.066000	0.16515	0.240000	0.17902	AAG	ANKRD30A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148513		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	71	0	A	NM_052997		37421265	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.001	C	C	37421265	A	C	37421265	3	2	81	1	0	0	0	0	1	0	0	0	658	72	3	4	454	4	ANKRD30A	10	37421265	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	7673864	37421265	98113482	146	21413											
RET	5979	genome.wustl.edu	37	chr10	43615130	43615130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcgggccctcaccatGggcgacctcatctcatttgc	7	9	11	14	2	3	1	3	1	1	0	4	3	3	1	3	2	2	0	3	2	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:43615130G>C	ENST00000355710.3	+	14	2776	c.2544G>C	c.(2542-2544)atG>atC	p.M848I	RET_ENST00000340058.5_Missense_Mutation_p.M848I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	848	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCTCACCATGGGCGACCTCA	0.652		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	0													54	48	50					10																	43615130		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2544G>C	10.37:g.43615130G>C	ENSP00000347942:p.Met848Ile		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.M848I	ENST00000355710.3	37	c.2544	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465778	0.43839	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.88586	-2.4;-2.4	5.19	5.19	0.71726	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87573	0.6211	N	0.05158	-0.105	0.80722	D	1	B;P;D	0.58970	0.189;0.499;0.984	B;P;D	0.71870	0.191;0.479;0.975	D	0.86719	0.1941	10	0.21540	T	0.41	.	18.7095	0.91651	0.0:0.0:1.0:0.0	.	594;848;848	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	848	ENSP00000347942:M848I;ENSP00000344798:M848I	ENSP00000344798:M848I	M	+	3	0	RET	42935136	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.569000	0.67391	2.435000	0.82474	0.313000	0.20887	ATG	RET	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000165731		0.652	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	-	0	73	0	G	NM_020975		43615130	1	tier1	-	no_errors	ENST00000355710	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	C	C	43615130	G	C	43615130	3	2	81	1	0	0	0	0	1	0	0	0	13280	1348	47	5	2598	5	RET	10	43615130	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	6193865	43615130	91919617	147	21414											
ALOX5	240	genome.wustl.edu	37	chr10	45941110	45941110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactacttgtccccagaccGgattccgaacagtgtggcca	9	10	9	13	2	0	1	0	0	0	1	2	3	2	2	5	2	3	0	5	2	3	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:45941110G>A	ENST00000374391.2	+	14	2053	c.2000G>A	c.(1999-2001)cGg>cAg	p.R667Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R610Q|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	667	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TCCCCAGACCGGATTCCGAAC	0.587																																																	0													100	93	95					10																	45941110		2203	4300	6503	SO:0001583	missense	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.2000G>A	10.37:g.45941110G>A	ENSP00000363512:p.Arg667Gln		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.R667Q	ENST00000374391.2	37	c.2000	CCDS7212.1	10	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171098	0.38315	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89875	-2.58;-2.58	5.44	4.55	0.56014	Lipoxygenase, C-terminal (2);	0.097634	0.64402	N	0.000003	T	0.81635	0.4864	M	0.62209	1.925	0.26670	N	0.971741	B;P;P	0.39480	0.343;0.51;0.675	B;B;B	0.19391	0.019;0.025;0.014	T	0.71600	-0.4544	10	0.11182	T	0.66	-35.258	11.9177	0.52776	0.0833:0.0:0.9167:0.0	.	610;635;667	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	Q	610;667	ENSP00000437634:R610Q;ENSP00000363512:R667Q	ENSP00000363512:R667Q	R	+	2	0	ALOX5	45261116	1.000000	0.71417	0.999000	0.59377	0.690000	0.40134	5.287000	0.65645	1.544000	0.49359	0.655000	0.94253	CGG	ALOX5	-	superfamily_LipOase_C	ENSG00000012779		0.587	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	-	0	26	0	G			45941110	1	tier1	-	no_errors	ENST00000374391	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	A	A	45941110	G	A	45941110	3	1	81	1	0	0	0	0	1	0	0	0	540	1116	39	1	2054	1	ALOX5	10	45941110	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2325980	45941110	89593637	148	21415											
BICC1	80114	genome.wustl.edu	37	chr10	60562850	60562850	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacagcagcactgacaggTtgctctcagaccctgaactg	10	9	9	13	0	2	3	2	2	1	1	3	3	2	3	1	1	4	4	1	1	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:60562850T>C	ENST00000373886.3	+	15	2033	c.2029T>C	c.(2029-2031)Ttg>Ctg	p.L677L	BICC1_ENST00000263103.1_Silent_p.L303L	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	677					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CACTGACAGGTTGCTCTCAGA	0.488																																																	0													64	61	62					10																	60562850		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"Sterile alpha motif (SAM) domain containing"	19351	protein-coding gene	gene with protein product		614295	"bicaudal C homolog 1 (Drosophila)"				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2029T>C	10.37:g.60562850T>C				Silent	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.L677	ENST00000373886.3	37	c.2029	CCDS31206.1	10																																																																																			BICC1	-	NULL	ENSG00000122870		0.488	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0	36	0	T	NM_025044		60562850	1	tier1	-	no_errors	ENST00000373886	ensembl	human	known	74_37	silent	28.00	18	7	SNP	0.949	C	C	60562850	T	C	60562850	2	2	81	1	0	0	0	0	0	0	0	1	1429	1722	60	4		4	BICC1	10	60562850	Silent	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	14621740	60562850	74971897	149	21416											
VPS26A	9559	genome.wustl.edu	37	chr10	70930990	70930990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagcgatttgaatctccaGaatcacaggcatctgccgaa	13	8	8	12	2	3	2	1	1	2	1	4	4	3	2	3	1	2	1	3	1	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:70930990G>A	ENST00000373382.1	+	10	1602	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000489794.1_3'UTR|VPS26A_ENST00000395098.1_3'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.E317K|VPS26A_ENST00000546041.1_Missense_Mutation_p.E300K|VPS26A_ENST00000541711.1_Missense_Mutation_p.E206K			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	317					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TGAATCTCCAGAATCACAGGC	0.383																																					Colon(90;545 1358 4729 6702 16773)												0													74	83	80					10																	70930990		2202	4300	6502	SO:0001583	missense	0			AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"vacuolar protein sorting 26 (yeast homolog)", "vacuolar protein sorting 26 (yeast)", "vacuolar protein sorting 26 homolog A (yeast)"	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.949G>A	10.37:g.70930990G>A	ENSP00000362480:p.Glu317Lys		A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	pfam_VPS26	p.E317K	ENST00000373382.1	37	c.949	CCDS7286.1	10	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424688	0.62733	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711	.	.	.	5.14	5.14	0.70334	.	0.190796	0.53938	D	0.000041	T	0.38719	0.1051	N	0.14661	0.345	0.80722	D	1	B;B	0.29301	0.241;0.005	B;B	0.23419	0.046;0.008	T	0.33111	-0.9881	9	0.07175	T	0.84	-13.399	18.9802	0.92752	0.0:0.0:1.0:0.0	.	300;317	F5H4L7;O75436	.;VP26A_HUMAN	K	317;317;300;206	.	ENSP00000263559:E317K	E	+	1	0	VPS26A	70600996	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.563000	0.98148	2.550000	0.86006	0.467000	0.42956	GAA	VPS26A	-	NULL	ENSG00000122958		0.383	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26A	HGNC	protein_coding	OTTHUMT00000048403.1	-	0	52	0	G	NM_004896		70930990	1	tier1	-	no_errors	ENST00000263559	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	70930990	G	A	70930990	3	1	81	1	0	0	0	0	1	0	0	0	17246	943	33	3	983	3	VPS26A	10	70930990	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	10368140	70930990	64603757	150	21417											
TTC18	118491	genome.wustl.edu	37	chr10	75056899	75056899	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatgatgttgtcttcaaGtatttatctctcacaatctt	11	18	4	8	0	6	1	3	1	3	0	7	1	6	1	0	0	0	2	0	0	5	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:75056899G>T	ENST00000310715.3	-	16	1875	c.1755C>A	c.(1753-1755)taC>taA	p.Y585*	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Nonsense_Mutation_p.Y54*|TTC18_ENST00000394865.1_Nonsense_Mutation_p.Y585*|TTC18_ENST00000401621.2_Nonsense_Mutation_p.Y585*|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		585						extracellular vesicular exosome (GO:0070062)		p.Y585*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGTCTTCAAGTATTTATCTC	0.438																																																	1	Substitution - Nonsense(1)	lung(1)											190	169	176					10																	75056899		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000310715.3:c.1755C>A	10.37:g.75056899G>T	ENSP00000310829:p.Tyr585*		C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Nonsense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y585*	ENST00000310715.3	37	c.1755	CCDS7324.3	10	.	.	.	.	.	.	.	.	.	.	G	39	7.411247	0.98269	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000394865	.	.	.	5.12	-0.215	0.13157	.	0.368822	0.29028	N	0.013376	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1514	9.0313	0.36260	0.4977:0.0:0.5023:0.0	.	.	.	.	X	585	.	ENSP00000310829:Y585X	Y	-	3	2	TTC18	74726905	1.000000	0.71417	0.878000	0.34440	0.971000	0.66376	0.828000	0.27435	-0.238000	0.09724	0.557000	0.71058	TAC	TTC18	-	NULL	ENSG00000156042		0.438	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC18	HGNC	protein_coding			0	63	0	G			75056899	-1			no_errors	ENST00000310715	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	0.833	T	T	75056899	G	T	75056899	4	4	81	1	0	0	0	0	0	1	0	0	16734	1024	36	3	1662	3	TTC18	10	75056899	Nonsense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	4125909	75056899	60477848	151	21418											
GRID1	2894	genome.wustl.edu	37	chr10	87407034	87407034	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggtccgccagagttcAgcaaacgtgctgtcctgctc	7	10	11	13	2	1	2	1	1	0	1	4	2	3	2	3	1	4	4	3	1	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:87407034A>C	ENST00000327946.7	-	13	2203	c.2118T>G	c.(2116-2118)gcT>gcG	p.A706A	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.A277A|RN7SKP238_ENST00000516483.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	706					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCCAGAGTTCAGCAAACGTGC	0.562										Multiple Myeloma(13;0.14)																																							0													265	244	251					10																	87407034		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2118T>G	10.37:g.87407034A>C			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A706	ENST00000327946.7	37	c.2118	CCDS31236.1	10																																																																																			GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.562	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0	63	0	A	XM_043613		87407034	-1	tier1	-	no_errors	ENST00000327946	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.018	C	C	87407034	A	C	87407034	2	2	81	1	0	0	0	0	0	0	0	1	6798	175	7	4		4	GRID1	10	87407034	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	12350135	87407034	48127713	152	21419											
CYP2C18	1562	genome.wustl.edu	37	chr10	96447929	96447929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagatccggcgtttcTgcctcatgactctgcggaat	8	10	13	10	3	3	2	1	1	2	1	4	5	4	4	2	4	2	1	2	4	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:96447929T>C	ENST00000285979.6	+	3	578	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.C127R	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	127					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCGGCGTTTCTGCCTCATGAC	0.498																																																	0													123	112	116					10																	96447929		2203	4300	6503	SO:0001583	missense	0			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"Cytochrome P450s"	2620	protein-coding gene	gene with protein product		601131	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.379T>C	10.37:g.96447929T>C	ENSP00000285979:p.Cys127Arg		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.C127R	ENST00000285979.6	37	c.379	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	t	13.22	2.172503	0.38315	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.68331	-0.32;-0.32	4.63	3.4	0.38934	.	0.415433	0.23380	U	0.048803	T	0.49966	0.1588	N	0.24115	0.695	0.80722	D	1	P;B	0.37594	0.601;0.044	B;B	0.36845	0.234;0.016	T	0.56505	-0.7968	10	0.87932	D	0	.	9.0649	0.36458	0.0:0.0:0.1852:0.8148	.	127;127	Q4VAT5;P33260	.;CP2CI_HUMAN	R	127	ENSP00000341293:C127R;ENSP00000285979:C127R	ENSP00000285979:C127R	C	+	1	0	CYP2C18	96437919	0.000000	0.05858	0.617000	0.29091	0.773000	0.43773	-0.061000	0.11693	1.711000	0.51337	0.255000	0.18592	TGC	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000108242		0.498	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	-	0	121	0	T	NM_000772		96447929	1	tier1	-	no_errors	ENST00000285979	ensembl	human	known	74_37	missense	12.50	40	6	SNP	0.826	C	C	96447929	T	C	96447929	3	2	81	1	0	0	0	0	1	0	0	0	4174	1580	55	4	389	4	CYP2C18	10	96447929	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	9040895	96447929	39086818	153	21420											
TCTN3	26123	genome.wustl.edu	37	chr10	97453624	97453624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggggaacaccagaaagaaCacttgcaggagcgcgagctg	13	4	14	10	3	0	2	0	0	0	2	1	5	0	4	1	3	5	2	1	3	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:97453624C>T	ENST00000371217.5	-	1	56	c.33G>A	c.(31-33)gtG>gtA	p.V11V	TCTN3_ENST00000371209.5_Silent_p.V11V|TCTN3_ENST00000430368.2_Silent_p.V11V|TCTN3_ENST00000265993.9_Silent_p.V29V			Q6NUS6	TECT3_HUMAN	tectonic family member 3	11					apoptotic process (GO:0006915)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CCAGAAAGAACACTTGCAGGA	0.667											OREG0020392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29	38	35					10																	97453624		692	1591	2283	SO:0001819	synonymous_variant	0			AK098295	CCDS31258.2, CCDS44461.1	10q24.1	2014-01-28	2007-08-20	2007-08-20	ENSG00000119977	ENSG00000119977		"Tectonic proteins"	24519	protein-coding gene	gene with protein product		613847	"chromosome 10 open reading frame 61"	C10orf61		12975309	Standard	NM_015631		Approved	DKFZP564D116, TECT3, JBTS18	uc001klb.4	Q6NUS6	OTTHUMG00000018814	ENST00000371217.5:c.33G>A	10.37:g.97453624C>T		1328	A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1	Silent	SNP	pfam_DUF1619	p.V11	ENST00000371217.5	37	c.33	CCDS31258.2	10																																																																																			TCTN3	-	NULL	ENSG00000119977		0.667	TCTN3-009	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	TCTN3	HGNC	protein_coding	OTTHUMT00000471858.1	-	0	71	0	C	NM_015631		97453624	-1	tier1	-	no_errors	ENST00000371217	ensembl	human	known	74_37	silent	25.71	24	9	SNP	0.936	T	T	97453624	C	T	97453624	2	4	81	1	0	0	0	0	0	0	0	1	15771	465	17	3		3	TCTN3	10	97453624	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1005695	97453624	38081123	154	21421											
TRIM8	81603	genome.wustl.edu	37	chr10	104416539	104416539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcccttcctgcagagtGtccccctgtacccttgcggc	3	10	11	17	2	0	1	0	0	0	1	2	1	2	1	5	2	4	2	5	2	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:104416539G>A	ENST00000302424.7	+	6	1206	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	362					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTGCAGAGTGTCCCCCTGTA	0.647																																																	0													88	90	89					10																	104416539		2203	4300	6503	SO:0001583	missense	0			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1084G>A	10.37:g.104416539G>A	ENSP00000302120:p.Val362Ile		A6NI31|Q9C028	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V362I	ENST00000302424.7	37	c.1084	CCDS31274.1	10	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506054	0.12883	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.78003	-1.14	5.31	3.45	0.39498	.	0.233891	0.38897	N	0.001529	T	0.45955	0.1368	N	0.03608	-0.345	0.33875	D	0.635392	B	0.06786	0.001	B	0.04013	0.001	T	0.49163	-0.8968	10	0.02654	T	1	.	5.0512	0.14508	0.4085:0.0:0.5915:0.0	.	362	Q9BZR9	TRIM8_HUMAN	I	362;361	ENSP00000302120:V362I	ENSP00000302120:V362I	V	+	1	0	TRIM8	104406529	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	3.093000	0.50217	1.245000	0.43885	0.491000	0.48974	GTC	TRIM8	-	NULL	ENSG00000171206		0.647	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM8	HGNC	protein_coding	OTTHUMT00000050084.3	-	0	48	0	G	NM_030912		104416539	1	tier1	-	no_errors	ENST00000302424	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.958	A	A	104416539	G	A	104416539	3	1	81	1	0	0	0	0	1	0	0	0	16596	1377	48	3	1106	3	TRIM8	10	104416539	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	6962915	104416539	31118208	155	21422											
MKI67	4288	genome.wustl.edu	37	chr10	129904470	129904470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctttcttgaggcttctCttgggccgttgctttgtgtt	1	20	11	9	1	3	1	0	1	3	0	4	1	3	1	1	2	2	5	1	2	0	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr10:129904470C>T	ENST00000368654.3	-	13	6009	c.5634G>A	c.(5632-5634)aaG>aaA	p.K1878K	MKI67_ENST00000368653.3_Silent_p.K1518K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1878	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGGCTTCTCTTGGGCCGTT	0.468																																																	0													260	265	263					10																	129904470		2203	4300	6503	SO:0001819	synonymous_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.5634G>A	10.37:g.129904470C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.K1878	ENST00000368654.3	37	c.5634	CCDS7659.1	10																																																																																			MKI67	-	pfam_K167R	ENSG00000148773		0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	177	0	C	NM_002417		129904470	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	silent	25.37	50	17	SNP	0.000	T	T	129904470	C	T	129904470	2	4	81	1	0	0	0	0	0	0	0	1	9636	912	32	3		3	MKI67	10	129904470	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	25487931	129904470	5630277	156	21423											
MUC6	4588	genome.wustl.edu	37	chr11	1031851	1031853	+	In_Frame_Del	DEL	GAC	GAC	-																															atgatggcttcgctcacagtGacgacggaggcccccagctc																								rs556441317		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	GAC	GAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:1031851_1031853delGAC	ENST00000421673.2	-	3	366_368	c.316_318delGTC	c.(316-318)gtcdel	p.V106del		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	106	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCTCACAGTGACGACGGAGGCC	0.68																																																	0																																										SO:0001651	inframe_deletion	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.316_318delGTC	11.37:g.1031854_1031856delGAC	ENSP00000406861:p.Val106del		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	In_Frame_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.V106in_frame_del	ENST00000421673.2	37	c.318_316	CCDS44513.1	11																																																																																			MUC6	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000184956		0.68	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2		0	78	0	GAC	XM_290540		1031853	-1	tier1		no_errors	ENST00000421673	ensembl	human	known	74_37	in_frame_del	27.78	26	10	DEL	0.984:0.977:0.367	-	-	1031853	GAC	-	1031851	7	5	81	1	0	1	0	1	0	0	0	0	10018	1277	45	0	7125	0	MUC6	11	1031851	In_Frame_Del	DEL	GAC	TCGA-L5-A8NG-01A-11D-A37C-09		1031851	133974665	157	21424											
NLRP14	338323	genome.wustl.edu	37	chr11	7071008	7071008	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggagtgatataggggatAatggagtaaagtcattgtgt	14	11	15	1	0	1	1	1	1	0	0	1	4	1	4	0	4	0	1	0	4	6	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:7071008A>C	ENST00000299481.4	+	6	2576	c.2230A>C	c.(2230-2232)Aat>Cat	p.N744H		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	744					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATAGGGGATAATGGAGTAAA	0.363																																																	0													203	188	193					11																	7071008		2201	4296	6497	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2230A>C	11.37:g.7071008A>C	ENSP00000299481:p.Asn744His		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N744H	ENST00000299481.4	37	c.2230	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780541	0.49891	.	.	ENSG00000158077	ENST00000299481	T	0.63913	-0.07	5.21	-3.28	0.05033	.	1.663880	0.03174	N	0.171188	T	0.58352	0.2116	L	0.31476	0.935	0.09310	N	1	P	0.45474	0.859	P	0.55455	0.776	T	0.51872	-0.8650	10	0.46703	T	0.11	.	1.7328	0.02935	0.3438:0.1523:0.3562:0.1477	.	744	Q86W24	NAL14_HUMAN	H	744	ENSP00000299481:N744H	ENSP00000299481:N744H	N	+	1	0	NLRP14	7027584	0.000000	0.05858	0.002000	0.10522	0.908000	0.53690	-0.178000	0.09782	-0.178000	0.10672	0.472000	0.43445	AAT	NLRP14	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000158077		0.363	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1		0	94	0	A	NM_176822		7071008	1			no_errors	ENST00000299481	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.008	C	C	7071008	A	C	7071008	3	2	81	1	0	0	0	0	1	0	0	0	10515	362	13	4	2248	4	NLRP14	11	7071008	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	6039157	7071008	127935508	158	21425											
NELL1	4745	genome.wustl.edu	37	chr11	20939754	20939754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccaagatgggaagatcatCtttatgccgaatggatatat	14	12	9	6	1	2	2	1	0	1	2	3	5	3	4	2	2	1	0	2	2	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:20939754C>G	ENST00000357134.5	+	6	782	c.630C>G	c.(628-630)atC>atG	p.I210M	NELL1_ENST00000532434.1_Missense_Mutation_p.I210M|NELL1_ENST00000298925.5_Missense_Mutation_p.I238M|NELL1_ENST00000325319.5_Missense_Mutation_p.I153M	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	210	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGAAGATCATCTTTATGCCGA	0.363																																																	0													159	153	155					11																	20939754		2203	4299	6502	SO:0001583	missense	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.630C>G	11.37:g.20939754C>G	ENSP00000349654:p.Ile210Met		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.I210M	ENST00000357134.5	37	c.630	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400397	0.62177	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.80994	4.37;4.37;-1.44;4.37	5.93	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.117230	0.56097	D	0.000033	D	0.82903	0.5138	L	0.54323	1.7	0.33982	D	0.648121	P;P;P;B	0.44877	0.773;0.664;0.845;0.437	P;B;P;B	0.56751	0.472;0.391;0.805;0.28	D	0.85738	0.1335	10	0.59425	D	0.04	-20.6415	7.1031	0.25348	0.1382:0.71:0.0:0.1518	.	153;238;210;210	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	M	238;210;153;210	ENSP00000298925:I238M;ENSP00000349654:I210M;ENSP00000317837:I153M;ENSP00000437170:I210M	ENSP00000298925:I238M	I	+	3	3	NELL1	20896330	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.052000	0.30429	0.789000	0.33779	0.655000	0.94253	ATC	NELL1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000165973		0.363	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1		0	43	0	C	NM_006157		20939754	1			no_errors	ENST00000357134	ensembl	human	known	74_37	missense	10.34	25	3	SNP	1.000	G	G	20939754	C	G	20939754	3	3	81	1	0	0	0	0	1	0	0	0	10372	903	32	5	652	5	NELL1	11	20939754	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	13868746	20939754	114066762	159	21426											
BDNF	627	genome.wustl.edu	37	chr11	27679499	27679499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagttcggcactgggagtTccaatgccttttgtctatgc	6	14	12	9	1	1	0	0	0	1	0	3	1	2	1	2	3	2	4	2	3	3	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:27679499T>G	ENST00000525528.1	-	1	1706	c.613A>C	c.(613-615)Aac>Cac	p.N205H	BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.N205H|BDNF_ENST00000356660.4_Missense_Mutation_p.N205H|BDNF_ENST00000438929.1_Missense_Mutation_p.N287H|BDNF_ENST00000418212.1_Missense_Mutation_p.N205H|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000525950.1_Missense_Mutation_p.N205H|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000395983.3_Missense_Mutation_p.N205H|BDNF_ENST00000314915.6_Missense_Mutation_p.N213H|BDNF_ENST00000439476.2_Missense_Mutation_p.N205H|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.N205H|BDNF_ENST00000395986.2_Missense_Mutation_p.N220H|BDNF_ENST00000533131.1_Missense_Mutation_p.N205H|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000532997.1_Missense_Mutation_p.N205H|BDNF_ENST00000533246.1_Missense_Mutation_p.N205H|BDNF_ENST00000395981.3_Missense_Mutation_p.N205H|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.N205H|BDNF_ENST00000395980.2_Missense_Mutation_p.N205H	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	205					axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						CACTGGGAGTTCCAATGCCTT	0.478																																																	0													178	176	176					11																	27679499		2202	4299	6501	SO:0001583	missense	0			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"Endogenous ligands"	1033	protein-coding gene	gene with protein product	"neurotrophin"	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.613A>C	11.37:g.27679499T>G	ENSP00000437138:p.Asn205His		A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	Missense_Mutation	SNP	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel	p.N287H	ENST00000525528.1	37	c.859	CCDS7866.1	11	.	.	.	.	.	.	.	.	.	.	T	14.76	2.630458	0.46944	.	.	ENSG00000176697	ENST00000439476;ENST00000525528;ENST00000395986;ENST00000533131;ENST00000356660;ENST00000418212;ENST00000533246;ENST00000530861;ENST00000395983;ENST00000438929;ENST00000395980;ENST00000532997;ENST00000395981;ENST00000395978;ENST00000525950;ENST00000314915;ENST00000420794;ENST00000528035	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.86	5.86	0.93980	Nerve growth factor-related (5);Nerve growth factor conserved site (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.996;0.986;0.992;0.986	D	0.84038	0.0363	10	0.87932	D	0	-9.198	16.2526	0.82494	0.0:0.0:0.0:1.0	.	234;287;213;205;220	P23560-5;P23560-4;P23560-2;P23560;P23560-3	.;.;.;BDNF_HUMAN;.	H	205;205;220;205;205;205;205;205;205;287;205;205;205;205;205;213;205;157	ENSP00000389345:N205H;ENSP00000437138:N205H;ENSP00000379309:N220H;ENSP00000432727:N205H;ENSP00000349084:N205H;ENSP00000400502:N205H;ENSP00000432376:N205H;ENSP00000435564:N205H;ENSP00000379307:N205H;ENSP00000414303:N287H;ENSP00000379304:N205H;ENSP00000435805:N205H;ENSP00000379305:N205H;ENSP00000379302:N205H;ENSP00000432035:N205H;ENSP00000320002:N213H;ENSP00000389564:N205H	ENSP00000320002:N213H	N	-	1	0	BDNF	27636075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.241000	0.73720	0.482000	0.46254	AAC	BDNF	-	pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel	ENSG00000176697		0.478	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF	HGNC	protein_coding	OTTHUMT00000388135.1	-	0	18	0	T	NM_170735		27679499	-1	tier1	-	no_errors	ENST00000438929	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	G	G	27679499	T	G	27679499	3	3	81	1	0	0	0	0	1	0	0	0	1395	1783	62	4	134	4	BDNF	11	27679499	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	6739745	27679499	107327017	160	21427											
DCDC1	341019	genome.wustl.edu	37	chr11	31312305	31312305	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaagtttcttcattctaatAgaaagaacaggcttggtttt	12	16	8	5	0	3	2	1	0	2	2	3	2	3	2	0	2	1	4	0	2	5	9			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:31312305A>T	ENST00000452803.1	-	7	1050	c.849T>A	c.(847-849)tcT>tcA	p.S283S	DCDC1_ENST00000597505.1_Silent_p.S283S	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	283					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCATTCTAATAGAAAGAACAG	0.393																																																	0													87	88	88					11																	31312305		2202	4299	6501	SO:0001819	synonymous_variant	0			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.849T>A	11.37:g.31312305A>T			A6PVL6|B7WNX6|Q6ZU04	Silent	SNP	pfscan_Doublecortin_dom	p.S283	ENST00000452803.1	37	c.849	CCDS7872.1	11																																																																																			DCDC1	-	NULL	ENSG00000170959		0.393	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC1	HGNC	protein_coding	OTTHUMT00000316531.1	-	0	91	0	A	NM_181807		31312305	-1	tier1	-	no_errors	ENST00000452803	ensembl	human	known	74_37	silent	18.42	31	7	SNP	0.035	T	T	31312305	A	T	31312305	2	4	81	1	0	0	0	0	0	0	0	1	4293	407	15	5		5	DCDC1	11	31312305	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	3632806	31312305	103694211	161	21428											
CCDC73	493860	genome.wustl.edu	37	chr11	32635921	32635921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acataacattacttgaattcCgtaaactatatttctgacat	15	15	3	8	1	1	2	0	2	1	0	2	2	2	2	1	0	3	1	1	0	7	8			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:32635921C>A	ENST00000335185.5	-	16	1986	c.1943G>T	c.(1942-1944)cGg>cTg	p.R648L	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	648										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACTTGAATTCCGTAAACTATA	0.289																																																	0													55	49	51					11																	32635921		1803	4066	5869	SO:0001583	missense	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1943G>T	11.37:g.32635921C>A	ENSP00000335325:p.Arg648Leu		Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	NULL	p.R648L	ENST00000335185.5	37	c.1943	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.476897	0.01035	.	.	ENSG00000186714	ENST00000335185	.	.	.	4.37	1.81	0.25067	.	0.866255	0.10009	N	0.727448	T	0.14227	0.0344	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	9	0.34782	T	0.22	.	2.2496	0.04040	0.1958:0.0892:0.1273:0.5877	.	648	Q6ZRK6	CCD73_HUMAN	L	648	.	ENSP00000335325:R648L	R	-	2	0	CCDC73	32592497	0.547000	0.26465	0.576000	0.28549	0.022000	0.10575	0.773000	0.26661	0.289000	0.22422	-0.332000	0.08345	CGG	CCDC73	-	NULL	ENSG00000186714		0.289	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2		0	70	0	C	NM_001008391		32635921	-1			no_errors	ENST00000335185	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.025	A	A	32635921	C	A	32635921	3	1	81	1	0	0	0	0	1	0	0	0	2853	652	23	2	1308	2	CCDC73	11	32635921	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1323616	32635921	102370595	162	21429											
PDHX	8050	genome.wustl.edu	37	chr11	34953026	34953026	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtgaaatggctgaaaaAggaaggtgaggaggtacctt	14	9	14	4	0	0	3	0	3	0	0	0	5	0	5	1	5	1	2	1	5	5	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:34953026A>G	ENST00000227868.4	+	2	320	c.236A>G	c.(235-237)aAg>aGg	p.K79R	PDHX_ENST00000430469.2_Missense_Mutation_p.K79R|PDHX_ENST00000448838.3_Missense_Mutation_p.K64R			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	79	Lipoyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TGGCTGAAAAAGGAAGGTGAG	0.353																																																	0													113	107	109					11																	34953026		2202	4298	6500	SO:0001583	missense	0			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.236A>G	11.37:g.34953026A>G	ENSP00000227868:p.Lys79Arg		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.K79R	ENST00000227868.4	37	c.236	CCDS7896.1	11	.	.	.	.	.	.	.	.	.	.	A	18.58	3.653931	0.67472	.	.	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000430469	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.69	4.56	0.56223	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.84773	2.715	0.28917	N	0.892342	B;D;D	0.71674	0.002;0.996;0.998	B;D;D	0.74348	0.012;0.936;0.983	T	0.71774	-0.4491	10	0.72032	D	0.01	-11.677	8.5158	0.33246	0.9123:0.0:0.0877:0.0	.	79;64;79	E9PBP7;E9PB14;O00330	.;.;ODPX_HUMAN	R	19;64;79;79	ENSP00000431281:K19R;ENSP00000389404:K64R;ENSP00000227868:K79R;ENSP00000415695:K79R	ENSP00000227868:K79R	K	+	2	0	PDHX	34909602	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.480000	0.53172	0.983000	0.38602	0.459000	0.35465	AAG	PDHX	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl	ENSG00000110435		0.353	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	-	0	60	0	A	NM_003477		34953026	1	tier1	-	no_errors	ENST00000227868	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	G	G	34953026	A	G	34953026	3	3	81	1	0	0	0	0	1	0	0	0	11706	72	3	4	361	4	PDHX	11	34953026	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	2317105	34953026	100053490	163	21430											
OR4B1	119765	genome.wustl.edu	37	chr11	48239132	48239132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctatcttcctctacatGcgaccttcttccactttcac	6	15	3	17	1	4	0	1	0	3	0	6	1	6	0	4	0	3	1	4	0	2	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:48239132G>A	ENST00000309562.2	+	1	789	c.771G>A	c.(769-771)atG>atA	p.M257I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCTCTACATGCGACCTTCTT	0.488																																																	0													141	109	120					11																	48239132		2201	4298	6499	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.771G>A	11.37:g.48239132G>A	ENSP00000311605:p.Met257Ile		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M257I	ENST00000309562.2	37	c.771	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	G	5.065	0.197673	0.09652	.	.	ENSG00000175619	ENST00000309562	T	0.34859	1.34	5.54	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.455157	0.20794	N	0.085574	T	0.17662	0.0424	N	0.05259	-0.085	0.09310	N	1	B	0.27380	0.177	B	0.33799	0.17	T	0.15636	-1.0430	10	0.34782	T	0.22	.	4.3516	0.11158	0.0844:0.1561:0.5982:0.1613	.	257	Q8NGF8	OR4B1_HUMAN	I	257	ENSP00000311605:M257I	ENSP00000311605:M257I	M	+	3	0	OR4B1	48195708	0.000000	0.05858	0.337000	0.25536	0.043000	0.13939	0.057000	0.14279	0.656000	0.30886	0.508000	0.49915	ATG	OR4B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000175619		0.488	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	-	0	69	0	G	NM_001005470		48239132	1	tier1	-	no_errors	ENST00000309562	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.060	A	A	48239132	G	A	48239132	3	1	81	1	0	0	0	0	1	0	0	0	11083	1319	46	3	773	3	OR4B1	11	48239132	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	13286106	48239132	86767384	164	21431											
OR4C16	219428	genome.wustl.edu	37	chr11	55340455	55340455	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttctcaaccctgtgatTtacacgctgaagaatacaga	12	13	6	10	1	2	4	1	2	2	2	3	4	2	4	1	0	3	1	1	0	5	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:55340455T>G	ENST00000314634.3	+	1	852	c.852T>G	c.(850-852)atT>atG	p.I284M		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ACCCTGTGATTTACACGCTGA	0.373																																																	0													68	64	65					11																	55340455		2201	4296	6497	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.852T>G	11.37:g.55340455T>G	ENSP00000324913:p.Ile284Met		Q6IEV8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I284M	ENST00000314634.3	37	c.852	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649734	0.29336	.	.	ENSG00000181935	ENST00000314634	T	0.57273	0.41	4.68	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.65903	0.2736	M	0.81112	2.525	0.29027	N	0.88596	D	0.71674	0.998	D	0.69824	0.966	T	0.59789	-0.7388	10	0.87932	D	0	.	3.8056	0.08776	0.3304:0.0933:0.0:0.5763	.	284	Q8NGL9	OR4CG_HUMAN	M	284	ENSP00000324913:I284M	ENSP00000324913:I284M	I	+	3	3	OR4C16	55097031	0.232000	0.23762	0.968000	0.41197	0.047000	0.14425	-0.720000	0.04969	0.800000	0.34041	0.448000	0.29417	ATT	OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000181935		0.373	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	44	0	T	NM_001004701		55340455	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	missense	70.59	5	12	SNP	1.000	G	G	55340455	T	G	55340455	3	3	81	1	0	0	0	0	1	0	0	0	11088	1829	64	4	854	4	OR4C16	11	55340455	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	7101323	55340455	79666061	165	21432											
OR10Q1	219960	genome.wustl.edu	37	chr11	57995922	57995922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgcgtgcacagctcGcgggtcatgatgagggtgta	8	9	15	9	3	2	2	1	2	1	0	3	2	2	2	0	2	4	4	0	2	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:57995922G>A	ENST00000316770.2	-	1	468	c.426C>T	c.(424-426)cgC>cgT	p.R142R		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R142R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TGCACAGCTCGCGGGTCATGA	0.632																																																	1	Substitution - coding silent(1)	ovary(1)											61	53	56					11																	57995922		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.426C>T	11.37:g.57995922G>A			Q6IFG4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R142	ENST00000316770.2	37	c.426	CCDS31547.1	11																																																																																			OR10Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180475		0.632	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1	-	0	37	0	G	NM_001004471		57995922	-1	tier1	-	no_errors	ENST00000316770	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.000	A	A	57995922	G	A	57995922	2	1	81	1	0	0	0	0	0	0	0	1	10955	1074	38	1		1	OR10Q1	11	57995922	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2655467	57995922	77010594	166	21433											
AHNAK	79026	genome.wustl.edu	37	chr11	62293282	62293282	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttggggcctttgaggtcAacttcaggacctttcagatc	8	13	10	10	0	3	2	3	1	0	1	4	3	3	3	2	4	1	0	2	4	1	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:62293282A>T	ENST00000378024.4	-	5	8881	c.8607T>A	c.(8605-8607)gtT>gtA	p.V2869V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2869					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTGAGGTCAACTTCAGGAC	0.468																																																	0													157	160	159					11																	62293282		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8607T>A	11.37:g.62293282A>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V2869	ENST00000378024.4	37	c.8607	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	118	0	A	NM_024060		62293282	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	31.03	40	18	SNP	0.948	T	T	62293282	A	T	62293282	2	4	81	1	0	0	0	0	0	0	0	1	414	117	5	5		5	AHNAK	11	62293282	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	4297360	62293282	72713234	167	21434											
SAC3D1	10004	genome.wustl.edu	37	chr11	64811901	64811901	+	IGR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgggaagccctggcccGcttcgctcgtgcctttagca	4	8	12	17	5	0	0	0	0	0	0	2	1	0	1	5	2	3	3	5	2	2	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:64811901G>T	ENST00000358658.3	-	0	2699				SAC3D1_ENST00000531072.1_Missense_Mutation_p.R260L|SAC3D1_ENST00000398846.1_Missense_Mutation_p.R260L|SAC3D1_ENST00000530213.1_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCCCTGGCCCGCTTCGCTCGT	0.652																																																	0													53	59	57					11																	64811901		2053	4191	6244	SO:0001628	intergenic_variant	0			AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"ileal peptidase I100"	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595		11.37:g.64811901G>T			C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.R260L	ENST00000358658.3	37	c.779	CCDS31604.1	11	.	.	.	.	.	.	.	.	.	.	G	8.929	0.962956	0.18583	.	.	ENSG00000168061	ENST00000531072;ENST00000398846;ENST00000301885	T;T	0.28454	1.61;1.61	4.72	3.77	0.43336	.	0.389179	0.19101	N	0.122716	T	0.22820	0.0551	L	0.41236	1.265	0.29693	N	0.840799	B	0.25955	0.138	B	0.29862	0.108	T	0.07102	-1.0790	10	0.22706	T	0.39	-16.5914	7.1817	0.25776	0.0:0.1965:0.6248:0.1786	.	306	A6NKF1	SAC31_HUMAN	L	260;260;305	ENSP00000436649:R260L;ENSP00000381824:R260L	ENSP00000301885:R305L	R	+	2	0	SAC3D1	64568477	1.000000	0.71417	0.997000	0.53966	0.734000	0.41952	2.593000	0.46180	2.437000	0.82529	0.650000	0.86243	CGC	SAC3D1	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000168061		0.652	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAC3D1	HGNC	protein_coding	OTTHUMT00000385162.1		0	67	0	G	NM_005468		64811901	1			no_errors	ENST00000398846	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.870	T	T	64811901	G	T	64811901	1	4	81	0	1	0	0	0	0	0	0	0	13847	1087	38	2		2	SAC3D1	11	64811901	IGR	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2518619	64811901	70194615	168	21435											
IGHMBP2	3508	genome.wustl.edu	37	chr11	68673634	68673634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcactgggctgtacggaCggctgctggtcacctttgag	6	9	15	11	3	1	1	1	1	0	0	1	2	1	2	1	4	3	5	1	4	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:68673634C>T	ENST00000255078.3	+	2	295	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	IGHMBP2_ENST00000539224.1_Missense_Mutation_p.R62W|MRPL21_ENST00000450904.2_5'Flank|MRPL21_ENST00000362034.2_5'Flank|MRPL21_ENST00000567045.1_5'Flank	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	62					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTGTACGGACGGCTGCTGGT	0.577																																																	0													96	95	95					11																	68673634		2200	4294	6494	SO:0001583	missense	0			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.184C>T	11.37:g.68673634C>T	ENSP00000255078:p.Arg62Trp		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.R62W	ENST00000255078.3	37	c.184	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623759	0.66901	.	.	ENSG00000132740	ENST00000255078;ENST00000539224	D;T	0.91521	-2.86;-0.73	3.63	2.69	0.31865	.	0.227263	0.36893	N	0.002358	D	0.94725	0.8298	M	0.86953	2.85	0.42217	D	0.991834	D	0.89917	1.0	D	0.68621	0.959	D	0.94462	0.7677	10	0.87932	D	0	-4.7386	10.3266	0.43796	0.1979:0.8021:0.0:0.0	.	62	P38935	SMBP2_HUMAN	W	62	ENSP00000255078:R62W;ENSP00000440465:R62W	ENSP00000255078:R62W	R	+	1	2	IGHMBP2	68430210	0.965000	0.33210	0.861000	0.33841	0.914000	0.54420	2.167000	0.42415	0.827000	0.34685	0.561000	0.74099	CGG	IGHMBP2	-	tigrfam_DNA_helicase_put	ENSG00000132740		0.577	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	-	0	62	0	C	NM_002180		68673634	1	tier1	-	no_errors	ENST00000255078	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.976	T	T	68673634	C	T	68673634	3	4	81	1	0	0	0	0	1	0	0	0	7618	527	19	1	190	1	IGHMBP2	11	68673634	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	3861733	68673634	66332882	169	21436											
GPR83	10888	genome.wustl.edu	37	chr11	94113381	94113381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagactggagttgggaggtGggcaggaggttattggcaag	9	8	19	5	0	0	1	0	0	0	1	0	4	0	4	1	7	0	4	1	7	2	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:94113381G>A	ENST00000243673.2	-	4	1377	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	GPR83_ENST00000539203.2_Silent_p.P360P	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	402					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTGGGAGGTGGGCAGGAGGT	0.577																																																	0													68	71	70					11																	94113381		2201	4298	6499	SO:0001819	synonymous_variant	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"GPCR / Class A : Orphans"	4523	protein-coding gene	gene with protein product		605569	"G protein-coupled receptor 72"	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.1206C>T	11.37:g.94113381G>A			B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.P402	ENST00000243673.2	37	c.1206	CCDS8297.1	11																																																																																			GPR83	-	NULL	ENSG00000123901		0.577	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	-	0	56	0	G	NM_016540		94113381	-1	tier1	-	no_errors	ENST00000243673	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.000	A	A	94113381	G	A	94113381	2	1	81	1	0	0	0	0	0	0	0	1	6739	1335	47	3		3	GPR83	11	94113381	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	25439747	94113381	40893135	170	21437											
JRKL	8690	genome.wustl.edu	37	chr11	96125281	96125281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggactgaaaatttattgGattatctagaacaacaaggt	16	12	9	4	0	1	2	0	1	1	1	1	4	1	4	0	3	2	0	0	3	8	5	rs370255954		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:96125281G>T	ENST00000332349.4	+	2	1715	c.1468G>T	c.(1468-1470)Gat>Tat	p.D490Y	CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Missense_Mutation_p.D490Y|JRKL_ENST00000546177.1_Intron|CCDC82_ENST00000525786.1_5'Flank	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	490					central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		AAATTTATTGGATTATCTAGA	0.383													G|||	1	0.000199681	8e-04	0	5008	,	,		21470	0		0	False		,,,				2504	0																0								G	TYR/ASP	1,4401	2.1+/-5.4	0,1,2200	51	44	47		1468	3.6	1	11		47	0,8596		0,0,4298	no	missense	JRKL	NM_003772.3	160	0,1,6498	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	490/525	96125281	1,12997	2201	4298	6499	SO:0001583	missense	0			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.1468G>T	11.37:g.96125281G>T	ENSP00000333350:p.Asp490Tyr		A8K3G4|B2RAJ3|Q32MC2	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.D490Y	ENST00000332349.4	37	c.1468	CCDS8308.1	11	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535565	0.45176	2.27E-4	0.0	ENSG00000183340	ENST00000332349;ENST00000458427	T;T	0.24151	1.87;1.87	4.53	3.59	0.41128	.	0.168064	0.28114	N	0.016543	T	0.37348	0.1000	L	0.52573	1.65	0.34968	D	0.752892	D	0.76494	0.999	D	0.64042	0.921	T	0.48514	-0.9029	10	0.59425	D	0.04	-13.653	7.8162	0.29260	0.1144:0.0:0.8856:0.0	.	490	Q9Y4A0	JERKL_HUMAN	Y	490	ENSP00000333350:D490Y;ENSP00000389989:D490Y	ENSP00000333350:D490Y	D	+	1	0	JRKL	95764929	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.146000	0.50631	2.228000	0.72767	0.462000	0.41574	GAT	JRKL	-	NULL	ENSG00000183340		0.383	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2	-	0	27	0	G	NM_003772		96125281	1	tier1	-	no_errors	ENST00000332349	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T	T	96125281	G	T	96125281	3	4	81	1	0	0	0	0	1	0	0	0	7992	1174	41	3	1470	3	JRKL	11	96125281	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2011900	96125281	38881235	171	21438											
CNTN5	53942	genome.wustl.edu	37	chr11	100061873	100061873	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatagctattcttccAgacgggagtctacggatcct	10	12	9	10	2	3	2	1	0	2	2	5	4	5	4	2	2	2	1	2	2	4	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:100061873A>G	ENST00000524871.1	+	14	1886	c.1596A>G	c.(1594-1596)ccA>ccG	p.P532P	CNTN5_ENST00000527185.1_Silent_p.P532P|CNTN5_ENST00000418526.2_Silent_p.P458P|CNTN5_ENST00000279463.3_Silent_p.P532P|CNTN5_ENST00000528682.1_Silent_p.P532P	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	532	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTATTCTTCCAGACGGGAGTC	0.373																																																	0													56	56	56					11																	100061873		1812	4068	5880	SO:0001819	synonymous_variant	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1596A>G	11.37:g.100061873A>G			A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P532	ENST00000524871.1	37	c.1596	CCDS53696.1	11																																																																																			CNTN5	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	113	0	A	NM_014361		100061873	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	G	G	100061873	A	G	100061873	2	3	81	1	0	0	0	0	0	0	0	1	3651	175	7	4		4	CNTN5	11	100061873	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	3936592	100061873	34944643	172	21439											
KIAA1377	57562	genome.wustl.edu	37	chr11	101833020	101833020	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccaacatttaaatttagCaaatcccaaagcacttcaga	17	9	4	11	0	1	1	1	0	0	1	2	1	2	1	2	0	4	2	2	0	6	5	rs138616617	byFrequency	TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:101833020C>T	ENST00000263468.8	+	6	1524	c.1254C>T	c.(1252-1254)agC>agT	p.S418S	KIAA1377_ENST00000537689.1_Silent_p.S219S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	418										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTAAATTTAGCAAATCCCAAA	0.388																																																	0													58	61	60					11																	101833020		2203	4299	6502	SO:0001819	synonymous_variant	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1254C>T	11.37:g.101833020C>T			Q4G0U6	Silent	SNP	NULL	p.S418	ENST00000263468.8	37	c.1254	CCDS31658.1	11																																																																																			KIAA1377	-	NULL	ENSG00000110318		0.388	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1	-	0	53	0	C	NM_020802		101833020	1	tier1	-	no_errors	ENST00000263468	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.871	T	T	101833020	C	T	101833020	2	4	81	1	0	0	0	0	0	0	0	1	8254	709	25	3		3	KIAA1377	11	101833020	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1771147	101833020	33173496	173	21440											
LAYN	143903	genome.wustl.edu	37	chr11	111425943	111425943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctccaggtgaggaaacaGagctgacaacacctgtactt	12	9	9	11	0	1	3	0	2	1	1	3	4	2	4	2	2	4	2	2	2	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:111425943G>A	ENST00000375615.3	+	6	795	c.610G>A	c.(610-612)Gag>Aag	p.E204K	LAYN_ENST00000375614.2_Missense_Mutation_p.E196K|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000436913.2_Missense_Mutation_p.E51K|LAYN_ENST00000525126.1_Missense_Mutation_p.E204K|LAYN_ENST00000533265.1_Missense_Mutation_p.E196K	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	204						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.E196K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	TGAGGAAACAGAGCTGACAAC	0.403																																					Ovarian(17;551 586 12136 22082 22900)												1	Substitution - Missense(1)	endometrium(1)											84	79	81					11																	111425943		2201	4297	6498	SO:0001583	missense	0				CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.610G>A	11.37:g.111425943G>A	ENSP00000364765:p.Glu204Lys		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E204K	ENST00000375615.3	37	c.610	CCDS58178.1	11	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290657	0.23564	.	.	ENSG00000204381	ENST00000375614;ENST00000375615;ENST00000525126;ENST00000436913;ENST00000533265;ENST00000541011;ENST00000530962	T;T;T;T	0.06142	3.85;3.44;3.34;4.04	4.99	3.12	0.35913	.	0.373831	0.29093	N	0.013162	T	0.08179	0.0204	M	0.68317	2.08	0.21355	N	0.999716	B;B;B;B;B	0.24043	0.041;0.074;0.022;0.036;0.096	B;B;B;B;B	0.23018	0.026;0.03;0.007;0.015;0.043	T	0.22347	-1.0219	9	.	.	.	-10.2532	8.7408	0.34556	0.1769:0.0:0.8231:0.0	.	51;196;204;204;196	B4DJU0;E9PMI0;Q6UX15;E9PQU7;Q6UX15-2	.;.;LAYN_HUMAN;.;.	K	196;204;204;51;196;159;52	ENSP00000364764:E196K;ENSP00000364765:E204K;ENSP00000434328:E204K;ENSP00000434972:E196K	.	E	+	1	0	LAYN	110931153	0.525000	0.26290	0.053000	0.19242	0.175000	0.22909	1.586000	0.36611	0.816000	0.34421	0.655000	0.94253	GAG	LAYN	-	NULL	ENSG00000204381		0.403	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAYN	HGNC	protein_coding	OTTHUMT00000391187.1		0	52	0	G	NM_178834		111425943	1			no_errors	ENST00000375615	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.358	A	A	111425943	G	A	111425943	3	1	81	1	0	0	0	0	1	0	0	0	8677	943	33	3	604	3	LAYN	11	111425943	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	9592923	111425943	23580573	174	21441											
SIK3	23387	genome.wustl.edu	37	chr11	116797979	116797979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccagaagtaaattttcaGcttttaaatcacgatgaaca	16	12	5	8	1	2	2	2	1	0	1	3	3	3	2	1	0	2	2	1	0	6	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:116797979G>A	ENST00000292055.4	-	4	433	c.398C>T	c.(397-399)gCt>gTt	p.A133V	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.A191V|SIK3_ENST00000542607.1_Missense_Mutation_p.A133V|SIK3_ENST00000446921.2_Missense_Mutation_p.A191V|SIK3_ENST00000434315.2_Missense_Mutation_p.A32V	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TAAATTTTCAGCTTTTAAATC	0.423																																																	0													140	134	136					11																	116797979		2201	4296	6497	SO:0001583	missense	0			AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.398C>T	11.37:g.116797979G>A	ENSP00000292055:p.Ala133Val		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.A191V	ENST00000292055.4	37	c.572	CCDS8379.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.523491	0.96431	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41097	U	0.000942	T	0.38161	0.1030	N	0.13003	0.285	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.965;0.999	T	0.40421	-0.9564	10	0.87932	D	0	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	133;32;133	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	V	191;133;133;32	ENSP00000364449:A191V;ENSP00000292055:A133V;ENSP00000438108:A133V;ENSP00000415873:A32V	ENSP00000292055:A133V	A	-	2	0	SIK3	116303189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.736000	0.93811	0.655000	0.94253	GCT	SIK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160584		0.423	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIK3	HGNC	protein_coding		-	0	79	0	G	NM_025164		116797979	-1	tier1	-	no_errors	ENST00000375300	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	116797979	G	A	116797979	3	1	81	1	0	0	0	0	1	0	0	0	14364	971	34	3	3473	3	SIK3	11	116797979	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	5372036	116797979	18208537	175	21442											
ROBO3	64221	genome.wustl.edu	37	chr11	124744730	124744730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccatggagaggccagcaGggactggcggaagtggctgt	9	5	18	9	1	0	1	0	0	0	1	0	5	0	3	2	6	1	2	2	6	1	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr11:124744730G>T	ENST00000397801.1	+	13	2190	c.1998G>T	c.(1996-1998)caG>caT	p.Q666H	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Missense_Mutation_p.Q644H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	666					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGGCCAGCAGGGACTGGCGG	0.627																																																	0													15	18	17					11																	124744730		1935	4148	6083	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1998G>T	11.37:g.124744730G>T	ENSP00000380903:p.Gln666His			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q666H	ENST00000397801.1	37	c.1998	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711078	0.30322	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.63096	-0.02;-0.02	4.97	0.263	0.15602	.	1.422640	0.05111	N	0.488977	T	0.52419	0.1733	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45160	-0.9280	10	0.66056	D	0.02	.	6.2074	0.20610	0.3656:0.1326:0.5018:0.0	.	666	Q96MS0	ROBO3_HUMAN	H	666;644	ENSP00000380903:Q666H;ENSP00000441797:Q644H	ENSP00000380903:Q666H	Q	+	3	2	ROBO3	124249940	0.302000	0.24454	0.862000	0.33874	0.798000	0.45092	0.597000	0.24059	0.134000	0.18681	0.650000	0.86243	CAG	ROBO3	-	NULL	ENSG00000154134		0.627	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	-	0	60	0	G	XM_370663		124744730	1	tier1	-	no_errors	ENST00000397801	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.862	T	T	124744730	G	T	124744730	3	4	81	1	0	0	0	0	1	0	0	0	13560	991	35	3	2048	3	ROBO3	11	124744730	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	7946751	124744730	10261786	176	21443											
TSPAN9	10867	genome.wustl.edu	37	chr12	3390494	3390494	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccacgcctttgtggagaaCggtgaggctggggatggacc	8	7	16	10	2	0	2	0	1	0	1	0	5	0	4	3	6	1	1	3	6	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:3390494C>T	ENST00000011898.5	+	7	724	c.563C>T	c.(562-564)aCg>aTg	p.T188M	TSPAN9_ENST00000537971.1_Splice_Site_p.T188M|TSPAN9_ENST00000407263.1_Splice_Site_p.T188M	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	188						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			TTGTGGAGAACGGTGAGGCTG	0.672																																																	0													22	18	19					12																	3390494		2040	3875	5915	SO:0001630	splice_region_variant	0			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"Tetraspanins"	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.564+1C>T	12.37:g.3390494C>T			D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T188M	ENST00000011898.5	37	c.563	CCDS8520.1	12	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097969	0.56183	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79845	-1.31;-1.31;-1.31	4.86	4.86	0.63082	Tetraspanin, EC2 domain (1);	0.222293	0.39146	N	0.001459	T	0.81880	0.4916	L	0.46157	1.445	0.38087	D	0.936848	P	0.51653	0.947	P	0.51487	0.671	D	0.85517	0.1201	10	0.62326	D	0.03	.	15.4916	0.75611	0.0:1.0:0.0:0.0	.	188	O75954	TSN9_HUMAN	M	188	ENSP00000444799:T188M;ENSP00000011898:T188M;ENSP00000384488:T188M	ENSP00000011898:T188M	T	+	2	0	TSPAN9	3260755	1.000000	0.71417	0.992000	0.48379	0.560000	0.35617	4.608000	0.61141	2.241000	0.73720	0.561000	0.74099	ACG	TSPAN9	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000011105		0.672	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN9	HGNC	protein_coding	OTTHUMT00000317606.2	-	0	89	0	C	NM_006675	Missense_Mutation	3390494	1	tier1	-	no_errors	ENST00000011898	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.996	T	T	3390494	C	T	3390494	5	4	81	1	0	0	0	0	0	0	1	0	16702	550	19	1	581	1	TSPAN9	12	3390494	Splice_Site	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09		3390494	130461401	177	21444											
GALNT8	26290	genome.wustl.edu	37	chr12	4870249	4870249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaatgctctgcgagtggcCgaaatctggatggatgagca	10	8	14	9	3	2	1	0	1	2	0	2	5	2	3	1	3	3	3	1	3	2	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:4870249C>T	ENST00000252318.2	+	7	1636	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	433					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCGAGTGGCCGAAATCTGGA	0.527																																					Colon(108;631 1558 7270 20097 39846)												0													156	126	136					12																	4870249		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1299C>T	12.37:g.4870249C>T			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A433	ENST00000252318.2	37	c.1299	CCDS8533.1	12																																																																																			GALNT8	-	NULL	ENSG00000130035		0.527	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2		0	32	0	C	NM_017417		4870249	1			no_errors	ENST00000252318	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.891	T	T	4870249	C	T	4870249	2	4	81	1	0	0	0	0	0	0	0	1	6244	639	23	1		1	GALNT8	12	4870249	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1479755	4870249	128981646	178	21445											
ANO2	57101	genome.wustl.edu	37	chr12	5685120	5685120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagagtcccattgtgaCtgtaggagtactggtacacc	9	10	12	10	1	0	2	0	1	0	1	1	3	1	3	2	2	3	4	2	2	3	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:5685120C>T	ENST00000356134.5	-	25	2575	c.2504G>A	c.(2503-2505)aGt>aAt	p.S835N	ANO2_ENST00000327087.8_Missense_Mutation_p.S834N|ANO2_ENST00000546188.1_Missense_Mutation_p.S835N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	839					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCCATTGTGACTGTAGGAGTA	0.527																																																	0													75	79	78					12																	5685120		1956	4160	6116	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2504G>A	12.37:g.5685120C>T	ENSP00000348453:p.Ser835Asn		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.S835N	ENST00000356134.5	37	c.2504		12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283545	0.80803	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.69306	-0.39;-0.39;-0.39	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	M	0.64676	1.99	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.78334	-0.2244	10	0.39692	T	0.17	.	18.2772	0.90087	0.0:1.0:0.0:0.0	.	834	Q9NQ90-3	.	N	834;835;835;839	ENSP00000314048:S834N;ENSP00000348453:S835N;ENSP00000440981:S835N	ENSP00000314048:S834N	S	-	2	0	ANO2	5555381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.621000	0.88768	0.650000	0.86243	AGT	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.527	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0	64	0	C	NM_020373		5685120	-1	tier1	-	no_errors	ENST00000356134	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	5685120	C	T	5685120	3	4	81	1	0	0	0	0	1	0	0	0	697	565	20	3	507	3	ANO2	12	5685120	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	814871	5685120	128166775	179	21446											
COPS7A	50813	genome.wustl.edu	37	chr12	6838513	6838513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatgctgacgtgcttcgtgGctccctggaccagcgcaacc	6	9	12	14	3	0	1	0	1	0	0	2	2	1	2	3	2	4	5	3	2	2	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:6838513G>A	ENST00000543155.1	+	5	910	c.428G>A	c.(427-429)gGc>gAc	p.G143D	COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000539735.1_Missense_Mutation_p.G143D|COPS7A_ENST00000229251.3_Missense_Mutation_p.G143D|COPS7A_ENST00000534877.1_Missense_Mutation_p.G143D|COPS7A_ENST00000538410.1_Missense_Mutation_p.G143D|COPS7A_ENST00000534947.1_Missense_Mutation_p.G143D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	143	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						GTGCTTCGTGGCTCCCTGGAC	0.597																																																	0													187	141	156					12																	6838513		2203	4300	6503	SO:0001583	missense	0			AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A", "COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.428G>A	12.37:g.6838513G>A	ENSP00000438115:p.Gly143Asp		A8K9A6|Q9NVX3|Q9UJW4	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.G143D	ENST00000543155.1	37	c.428	CCDS8558.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.325764	0.95708	.	.	ENSG00000111652	ENST00000543155;ENST00000442593;ENST00000229251;ENST00000539735;ENST00000538410;ENST00000534947;ENST00000541866;ENST00000534877;ENST00000538753	T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.39	5.39	0.77823	Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.77593	-0.2530	10	0.87932	D	0	-12.3195	19.1574	0.93517	0.0:0.0:1.0:0.0	.	143;143	F5H248;Q9UBW8	.;CSN7A_HUMAN	D	143	ENSP00000438115:G143D;ENSP00000229251:G143D;ENSP00000441852:G143D;ENSP00000439547:G143D;ENSP00000446039:G143D;ENSP00000442613:G143D;ENSP00000438363:G143D;ENSP00000440683:G143D	ENSP00000229251:G143D	G	+	2	0	COPS7A	6708774	1.000000	0.71417	0.979000	0.43373	0.889000	0.51656	9.473000	0.97714	2.525000	0.85131	0.655000	0.94253	GGC	COPS7A	-	pfam_PCI_dom,smart_PCI_dom	ENSG00000111652		0.597	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS7A	HGNC	protein_coding	OTTHUMT00000402740.1	-	0	52	0	G			6838513	1	tier1	-	no_errors	ENST00000229251	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	6838513	G	A	6838513	3	1	81	1	0	0	0	0	1	0	0	0	3745	1203	42	3	442	3	COPS7A	12	6838513	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	1153393	6838513	127013382	180	21447											
CLEC12B	387837	genome.wustl.edu	37	chr12	10167210	10167210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcaggataacttatcCcagcaactgggcaactccaa	14	6	8	13	0	0	0	0	0	0	0	2	1	2	1	2	2	6	4	2	2	5	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:10167210C>T	ENST00000338896.5	+	3	407	c.279C>T	c.(277-279)tcC>tcT	p.S93S	RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Silent_p.S93S	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						ATAACTTATCCCAGCAACTGG	0.428																																																	0													104	96	99					12																	10167210		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"C-type lectin domain containing"	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.279C>T	12.37:g.10167210C>T			Q6UWF2|Q6ZRG0	Silent	SNP	pfam_C-type_lectin,pfam_Ly49,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S93	ENST00000338896.5	37	c.279	CCDS44830.1	12																																																																																			CLEC12B	-	pfam_Ly49	ENSG00000256660		0.428	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC12B	HGNC	protein_coding	OTTHUMT00000399554.2	-	0	42	0	C	NM_205852		10167210	1	tier1	-	no_errors	ENST00000338896	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.400	T	T	10167210	C	T	10167210	2	4	81	1	0	0	0	0	0	0	0	1	3505	610	22	3		3	CLEC12B	12	10167210	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	3328697	10167210	123684685	181	21448											
SLCO1B3	28234	genome.wustl.edu	37	chr12	21028386	21028386	+	Frame_Shift_Del	DEL	A	A	-																															gctaatttgaccaaccaaggAaaaaatgttaccaaaaatgt																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:21028386delA	ENST00000381545.3	+	9	1164	c.945delA	c.(943-945)ggafs	p.G315fs	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Frame_Shift_Del_p.G315fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.G315fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.G315fs|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	315					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CCAACCAAGGAAAAAATGTTA	0.299																																																	0													39	40	40					12																	21028386		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"Solute carriers"	10961	protein-coding gene	gene with protein product		605495	"solute carrier family 21 (organic anion transporter), member 8"	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.945delA	12.37:g.21028386delA	ENSP00000370956:p.Gly315fs		E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.N317fs	ENST00000381545.3	37	c.945	CCDS8684.1	12																																																																																			SLCO1B3	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000111700		0.299	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000401936.1		0	91	0	A	NM_019844		21028386	1	tier1		no_errors	ENST00000553473	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.000	-	-	21028386	A	-	21028386	7	5	81	1	0	1	0	1	0	0	0	0	14769	233	9	0	971	0	SLCO1B3	12	21028386	Frame_Shift_Del	DEL	A	TCGA-L5-A8NG-01A-11D-A37C-09	10861176	21028386	112823509	182	21449											
COL2A1	1280	genome.wustl.edu	37	chr12	48367888	48367888	+	Frame_Shift_Del	DEL	A	A	-																															tcaccgtgcagccatccttcAgggcagtgtacgtgaacctg																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:48367888delA	ENST00000380518.3	-	53	4465	c.4301delT	c.(4300-4302)ctgfs	p.L1434fs	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Frame_Shift_Del_p.L1365fs	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1434	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCCATCCTTCAGGGCAGTGTA	0.632																																																	0													88	79	82					12																	48367888		2203	4300	6503	SO:0001589	frameshift_variant	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.4301delT	12.37:g.48367888delA	ENSP00000369889:p.Leu1434fs		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L1434fs	ENST00000380518.3	37	c.4301	CCDS41778.1	12																																																																																			COL2A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000139219		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2		0	39	0	A	NM_001844		48367888	-1	tier1		no_errors	ENST00000380518	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	1.000	-	-	48367888	A	-	48367888	7	5	81	1	0	1	0	1	0	0	0	0	3694	188	7	0	170	0	COL2A1	12	48367888	Frame_Shift_Del	DEL	A	TCGA-L5-A8NG-01A-11D-A37C-09	27339502	48367888	85484007	183	21450											
MAP3K12	7786	genome.wustl.edu	37	chr12	53874997	53874997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggaagctgggggccgcaagGcatcaacgctgttggagttg	8	7	18	8	2	1	0	1	0	0	0	1	2	1	2	1	5	2	6	1	5	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:53874997G>A	ENST00000267079.2	-	15	2774	c.2549C>T	c.(2548-2550)gCc>gTc	p.A850V	MAP3K12_ENST00000547488.1_Missense_Mutation_p.A883V|MAP3K12_ENST00000547035.1_Missense_Mutation_p.A883V	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	850					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GGGCCGCAAGGCATCAACGCT	0.418																																																	0													69	61	64					12																	53874997		2203	4300	6503	SO:0001583	missense	0			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6851	protein-coding gene	gene with protein product	"dual leucine zipper kinase DLK"	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2549C>T	12.37:g.53874997G>A	ENSP00000267079:p.Ala850Val		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A850V	ENST00000267079.2	37	c.2549	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047276	0.55110	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.75367	-0.92;-0.93;-0.93	4.91	4.01	0.46588	.	0.189766	0.26089	N	0.026412	T	0.53802	0.1819	N	0.08118	0	0.34280	D	0.681985	B;B	0.22414	0.069;0.041	B;B	0.18871	0.023;0.017	T	0.59236	-0.7492	10	0.27082	T	0.32	.	13.3385	0.60530	0.0:0.1599:0.8401:0.0	.	883;850	G3V1Y2;Q12852	.;M3K12_HUMAN	V	850;883;883	ENSP00000267079:A850V;ENSP00000449038:A883V;ENSP00000448689:A883V	ENSP00000267079:A850V	A	-	2	0	MAP3K12	52161264	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.067000	0.41461	1.437000	0.47472	0.655000	0.94253	GCC	MAP3K12	-	pirsf_MAP3K12_MAP3K13	ENSG00000139625		0.418	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	-	0	80	0	G	NM_006301		53874997	-1	tier1	-	no_errors	ENST00000267079	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	A	A	53874997	G	A	53874997	3	1	81	1	0	0	0	0	1	0	0	0	9284	1203	42	3	34	3	MAP3K12	12	53874997	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	5507109	53874997	79976898	184	21451											
NEUROD4	58158	genome.wustl.edu	37	chr12	55421014	55421014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcatcagtgggaacttctCcttgaagcaagatgggtctc	10	10	12	9	0	3	2	1	1	2	1	5	4	3	3	1	2	3	2	1	2	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:55421014C>T	ENST00000242994.3	+	2	1169	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	264					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGGAACTTCTCCTTGAAGCAA	0.512																																																	0													128	123	125					12																	55421014		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.791C>T	12.37:g.55421014C>T	ENSP00000242994:p.Ser264Phe		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.S264F	ENST00000242994.3	37	c.791	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397510	0.83120	.	.	ENSG00000123307	ENST00000242994	T	0.74002	-0.8	5.85	5.85	0.93711	Neurogenic differentiation factor, domain of unknown function (1);	0.106321	0.64402	D	0.000004	D	0.85539	0.5720	M	0.70595	2.14	0.80722	D	1	D	0.63880	0.993	D	0.68621	0.959	D	0.85958	0.1468	10	0.87932	D	0	-31.6002	18.0364	0.89305	0.0:1.0:0.0:0.0	.	264	Q9HD90	NDF4_HUMAN	F	264	ENSP00000242994:S264F	ENSP00000242994:S264F	S	+	2	0	NEUROD4	53707281	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	TCC	NEUROD4	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000123307		0.512	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1		0	55	0	C			55421014	1			no_errors	ENST00000242994	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	55421014	C	T	55421014	3	4	81	1	0	0	0	0	1	0	0	0	10389	855	30	3	793	3	NEUROD4	12	55421014	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1546017	55421014	78430881	185	21452											
TIMELESS	8914	genome.wustl.edu	37	chr12	56815246	56815246	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccgtgagcgtttggcTgtgatattcttcatgatatg	6	14	13	8	3	2	3	1	3	1	0	2	3	2	3	1	2	1	2	1	2	2	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:56815246T>C	ENST00000553532.1	-	23	2907	c.2757A>G	c.(2755-2757)acA>acG	p.T919T	TIMELESS_ENST00000229201.4_Silent_p.T918T|TIMELESS_ENST00000554616.1_Silent_p.T416T					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AGCGTTTGGCTGTGATATTCT	0.473																																																	0													137	138	138					12																	56815246		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"Tof1 homolog (S. cerevisiae)", "timeless circadian clock 1"	603887	"timeless (Drosophila) homolog", "timeless homolog (Drosophila)"			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2757A>G	12.37:g.56815246T>C				Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.T919	ENST00000553532.1	37	c.2757	CCDS8918.1	12																																																																																			TIMELESS	-	pfam_TIMELESS_C	ENSG00000111602		0.473	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	-	0	32	0	T	NM_003920		56815246	-1	tier1	-	no_errors	ENST00000553532	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.997	C	C	56815246	T	C	56815246	2	2	81	1	0	0	0	0	0	0	0	1	15951	1567	55	4		4	TIMELESS	12	56815246	Silent	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	1394232	56815246	77036649	186	21453											
NACA	4666	genome.wustl.edu	37	chr12	57112579	57112579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgggggaggaagaagtcatgGatagagcaggagcctgtttg	11	8	18	4	0	1	2	1	0	0	2	1	6	1	6	1	5	2	2	1	5	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:57112579G>C	ENST00000454682.1	-	3	3016	c.2735C>G	c.(2734-2736)tCc>tGc	p.S912C	NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	912	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAAGTCATGGATAGAGCAGG	0.597			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													24	26	26					12																	57112579		1563	3558	5121	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.2735C>G	12.37:g.57112579G>C	ENSP00000403817:p.Ser912Cys			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.S912C	ENST00000454682.1	37	c.2735		12	.	.	.	.	.	.	.	.	.	.	G	0.788	-0.760018	0.03019	.	.	ENSG00000196531	ENST00000454682	T	0.50813	0.73	1.08	-0.127	0.13510	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.09310	N	1	P	0.50156	0.932	B	0.37198	0.243	T	0.14254	-1.0479	7	.	.	.	.	1.738	0.02946	0.2483:0.0:0.3943:0.3573	.	912	E9PAV3	.	C	912	ENSP00000403817:S912C	.	S	-	2	0	NACA	55398846	0.001000	0.12720	0.001000	0.08648	0.017000	0.09413	-0.584000	0.05800	-0.042000	0.13535	0.298000	0.19748	TCC	NACA	-	NULL	ENSG00000196531		0.597	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0	71	0	G	NM_005594		57112579	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.001	C	C	57112579	G	C	57112579	3	2	81	1	0	0	0	0	1	0	0	0	10171	1174	41	5	3529	5	NACA	12	57112579	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	297333	57112579	76739316	187	21454											
POC1B	282809	genome.wustl.edu	37	chr12	89864263	89864263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatgcaattaactccacCgctgtgaactgatttgtaga	12	13	8	8	1	0	4	0	3	0	1	1	4	1	4	2	0	3	3	2	0	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:89864263C>T	ENST00000313546.3	-	7	813	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	POC1B_ENST00000393179.4_Missense_Mutation_p.G99S|POC1B_ENST00000549035.1_Missense_Mutation_p.G187S|POC1B_ENST00000378528.2_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Missense_Mutation_p.G99S	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	229					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TTAACTCCACCGCTGTGAACT	0.383																																																	0													111	109	109					12																	89864263		2203	4300	6503	SO:0001583	missense	0			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"WD repeat domain containing"	30836	protein-coding gene	gene with protein product		614784	"WD repeat domain 51B", "POC1 centriolar protein homolog B (Chlamydomonas)"	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.685G>A	12.37:g.89864263C>T	ENSP00000323302:p.Gly229Ser		G3V1X0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G229S	ENST00000313546.3	37	c.685	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819346	0.50633	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	T;T;T;T	0.80738	0.26;-1.41;0.26;0.26	5.48	-0.352	0.12598	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.410376	0.27518	N	0.019001	T	0.67249	0.2873	L	0.35341	1.055	0.80722	D	1	B	0.16603	0.018	B	0.16722	0.016	T	0.50882	-0.8775	10	0.30078	T	0.28	.	10.1379	0.42717	0.4855:0.4504:0.0:0.0642	.	229	Q8TC44	POC1B_HUMAN	S	99;229;187;99	ENSP00000376877:G99S;ENSP00000323302:G229S;ENSP00000447916:G187S;ENSP00000440301:G99S	ENSP00000323302:G229S	G	-	1	0	POC1B	88388394	0.362000	0.24980	0.056000	0.19401	0.983000	0.72400	2.034000	0.41145	-0.403000	0.07622	0.650000	0.86243	GGT	POC1B	-	pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139323		0.383	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	-	0	96	0	C	NM_172240		89864263	-1	tier1	-	no_errors	ENST00000313546	ensembl	human	known	74_37	missense	44.19	24	19	SNP	0.983	T	T	89864263	C	T	89864263	3	4	81	1	0	0	0	0	1	0	0	0	12215	652	23	1	775	1	POC1B	12	89864263	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	32751684	89864263	43987632	188	21455											
NUAK1	9891	genome.wustl.edu	37	chr12	106466612	106466612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacaggttggaaagcccaaAgtcagcaatctacaaagaga	17	6	10	8	0	2	1	1	0	1	1	2	3	2	2	1	2	4	3	1	2	6	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:106466612A>G	ENST00000261402.2	-	5	1968	c.589T>C	c.(589-591)Ttt>Ctt	p.F197L		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GAAAGCCCAAAGTCAGCAATC	0.463																																																	0													127	118	121					12																	106466612		2203	4300	6503	SO:0001583	missense	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"AMP-activated protein kinase family member 5"	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.589T>C	12.37:g.106466612A>G	ENSP00000261402:p.Phe197Leu		A7MD39|Q96KA8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F197L	ENST00000261402.2	37	c.589	CCDS31892.1	12	.	.	.	.	.	.	.	.	.	.	A	33	5.281340	0.95489	.	.	ENSG00000074590	ENST00000261402;ENST00000548902	T;T	0.62232	0.04;0.04	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	T	0.80088	0.4559	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82583	-0.0385	10	0.87932	D	0	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	197	O60285	NUAK1_HUMAN	L	197;66	ENSP00000261402:F197L;ENSP00000448288:F66L	ENSP00000261402:F197L	F	-	1	0	NUAK1	104990742	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.284000	0.95882	2.254000	0.74563	0.459000	0.35465	TTT	NUAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000074590		0.463	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	-	0	47	0	A	NM_014840		106466612	-1	tier1	-	no_errors	ENST00000261402	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	G	G	106466612	A	G	106466612	3	3	81	1	0	0	0	0	1	0	0	0	10751	72	3	4	1408	4	NUAK1	12	106466612	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	16602349	106466612	27385283	189	21456											
IQCD	115811	genome.wustl.edu	37	chr12	113645642	113645642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgcaattgcctttctttCtctttcaggcacctgacgtt	5	17	6	13	1	3	1	1	1	2	0	5	1	4	1	3	1	2	3	3	1	1	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:113645642C>G	ENST00000416617.2	-	2	520	c.330G>C	c.(328-330)gaG>gaC	p.E110D	IQCD_ENST00000546692.1_Missense_Mutation_p.E110D|IQCD_ENST00000299732.2_Missense_Mutation_p.E110D			Q96DY2	IQCD_HUMAN	IQ motif containing D	110										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						GCCTTTCTTTCTCTTTCAGGC	0.552																																																	0													105	102	103					12																	113645642		2203	4300	6503	SO:0001583	missense	0			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"dynein regulatory complex subunit 10"					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.330G>C	12.37:g.113645642C>G	ENSP00000400669:p.Glu110Asp		Q6ZSU0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.E110D	ENST00000416617.2	37	c.330		12	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738891	0.15642	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.10005	2.92;2.92;2.92	4.25	-1.31	0.09230	.	0.956752	0.08685	N	0.908784	T	0.04952	0.0133	N	0.16656	0.425	0.09310	N	1	B;B	0.20052	0.041;0.002	B;B	0.20184	0.028;0.004	T	0.45131	-0.9282	10	0.21540	T	0.41	-5.8041	0.6912	0.00891	0.3959:0.2487:0.1336:0.2218	.	110;110	F8VZV9;Q96DY2-2	.;.	D	110	ENSP00000299732:E110D;ENSP00000400669:E110D;ENSP00000446623:E110D	ENSP00000299732:E110D	E	-	3	2	IQCD	112130025	0.000000	0.05858	0.004000	0.12327	0.020000	0.10135	-1.217000	0.02979	-0.123000	0.11745	-0.448000	0.05591	GAG	IQCD	-	NULL	ENSG00000166578		0.552	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1	-	0	40	0	C	NM_138451		113645642	-1	tier1	-	no_errors	ENST00000416617	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.000	G	G	113645642	C	G	113645642	3	3	81	1	0	0	0	0	1	0	0	0	7832	912	32	5	721	5	IQCD	12	113645642	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	7179030	113645642	20206253	190	21457											
ABCB9	23457	genome.wustl.edu	37	chr12	123434423	123434423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaatgttcagtctggcaaaTatgagggtaaaaatgccgcc	13	9	11	8	2	2	1	1	1	1	0	2	2	2	1	2	2	1	3	2	2	6	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:123434423T>C	ENST00000542678.1	-	4	3597	c.759A>G	c.(757-759)atA>atG	p.I253M	ABCB9_ENST00000344275.7_Missense_Mutation_p.I253M|ABCB9_ENST00000280560.8_Missense_Mutation_p.I253M|ABCB9_ENST00000540285.1_Missense_Mutation_p.I253M|ABCB9_ENST00000346530.5_Missense_Mutation_p.I253M|ABCB9_ENST00000442028.2_Missense_Mutation_p.I253M|ABCB9_ENST00000392439.3_Missense_Mutation_p.I253M|ABCB9_ENST00000442833.2_Missense_Mutation_p.I253M			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	253	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GTCTGGCAAATATGAGGGTAA	0.498																																					Ovarian(49;786 1333 9175 38236)												0													155	155	155					12																	123434423		2203	4300	6503	SO:0001583	missense	0			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.759A>G	12.37:g.123434423T>C	ENSP00000440288:p.Ile253Met		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.I253M	ENST00000542678.1	37	c.759	CCDS9241.1	12	.	.	.	.	.	.	.	.	.	.	T	13.44	2.236515	0.39498	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000541424	D;D;D;D;D;D;T	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-1.46	5.84	3.32	0.38043	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.389539	0.30809	N	0.008823	D	0.88503	0.6454	L	0.33339	1.005	0.25490	N	0.987657	B;B;P;B;B	0.34629	0.084;0.23;0.46;0.131;0.093	B;B;P;B;B	0.51055	0.409;0.21;0.657;0.286;0.315	T	0.80437	-0.1383	10	0.66056	D	0.02	-5.7663	2.7708	0.05334	0.1023:0.1586:0.1755:0.5635	.	253;253;35;253;253	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	M	253;253;253;253;253;253;32	ENSP00000280560:I253M;ENSP00000441734:I253M;ENSP00000280559:I253M;ENSP00000376234:I253M;ENSP00000440288:I253M;ENSP00000394898:I253M;ENSP00000440138:I32M	ENSP00000280560:I253M	I	-	3	3	ABCB9	122000376	0.920000	0.31207	1.000000	0.80357	0.998000	0.95712	-0.128000	0.10531	1.029000	0.39812	0.459000	0.35465	ATA	ABCB9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000150967		0.498	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB9	HGNC	protein_coding	OTTHUMT00000400956.1	-	0	63	0	T	NM_019624		123434423	-1	tier1	-	no_errors	ENST00000442028	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.733	C	C	123434423	T	C	123434423	3	2	81	1	0	0	0	0	1	0	0	0	48	1396	49	4	1577	4	ABCB9	12	123434423	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	9788781	123434423	10417472	191	21458											
MPHOSPH9	10198	genome.wustl.edu	37	chr12	123645738	123645738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgtttcagctagggtcCgaatttttgctgtatattca	7	18	9	7	1	3	0	2	0	1	0	4	1	4	0	1	1	2	5	1	1	4	8	rs199553878		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr12:123645738C>T	ENST00000606320.1	-	22	3532	c.3326G>A	c.(3325-3327)cGg>cAg	p.R1109Q	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R957Q|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R957Q|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R1079Q			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1109						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AGCTAGGGTCCGAATTTTTGC	0.348																																																	0													87	84	85					12																	123645738		2203	4300	6503	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3326G>A	12.37:g.123645738C>T	ENSP00000475489:p.Arg1109Gln		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.R957Q	ENST00000606320.1	37	c.2870		12	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718874	0.68844	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.46063	0.88;1.5;1.51	5.58	4.68	0.58851	.	0.154220	0.43747	D	0.000526	T	0.25344	0.0616	L	0.48362	1.52	0.31782	N	0.630756	P	0.38167	0.621	B	0.26969	0.075	T	0.38265	-0.9669	10	0.34782	T	0.22	-21.2523	2.2149	0.03957	0.1677:0.5046:0.1625:0.1652	.	957	Q99550	MPP9_HUMAN	Q	135;957;957	ENSP00000446362:R135Q;ENSP00000303597:R957Q;ENSP00000445859:R957Q	ENSP00000303597:R957Q	R	-	2	0	MPHOSPH9	122211691	0.995000	0.38212	0.999000	0.59377	0.978000	0.69477	1.793000	0.38764	1.344000	0.45657	0.563000	0.77884	CGG	MPHOSPH9	-	NULL	ENSG00000051825		0.348	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	-	0	118	0	C			123645738	-1	tier1	rs199553878	no_errors	ENST00000392425	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.975	T	T	123645738	C	T	123645738	3	4	81	1	0	0	0	0	1	0	0	0	9766	652	23	1	237	1	MPHOSPH9	12	123645738	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	211315	123645738	10206157	192	21459											
TUBA3C	7278	genome.wustl.edu	37	chr13	19748175	19748175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatacatgagatcgaacTtatggtccaggcgagcccag	11	8	12	10	2	0	1	0	1	0	1	2	4	1	1	2	3	3	1	2	3	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr13:19748175T>G	ENST00000400113.3	-	5	1285	c.1181A>C	c.(1180-1182)aAg>aCg	p.K394T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	394					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGATCGAACTTATGGTCCAG	0.642																																																	0													125	114	117					13																	19748175		2203	4300	6503	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1181A>C	13.37:g.19748175T>G	ENSP00000382982:p.Lys394Thr		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.K394T	ENST00000400113.3	37	c.1181	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	12.88	2.071228	0.36566	.	.	ENSG00000198033	ENST00000400113	D	0.85955	-2.05	1.22	1.22	0.21188	.	0.000000	0.49305	U	0.000150	D	0.85864	0.5796	.	.	.	0.42575	D	0.993195	.	.	.	.	.	.	D	0.84442	0.0583	7	0.87932	D	0	.	6.5693	0.22529	0.0:0.0:0.0:1.0	.	.	.	.	T	394	ENSP00000382982:K394T	ENSP00000382982:K394T	K	-	2	0	TUBA3C	18646175	1.000000	0.71417	0.978000	0.43139	0.932000	0.56968	4.841000	0.62824	0.813000	0.34350	0.163000	0.16589	AAG	TUBA3C	-	superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000198033		0.642	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	106	0	T	NM_006001		19748175	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	G	G	19748175	T	G	19748175	3	3	81	1	0	0	0	0	1	0	0	0	16795	1609	56	4	175	4	TUBA3C	13	19748175	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09		19748175	95421703	193	21460											
CRYL1	51084	genome.wustl.edu	37	chr13	20987431	20987431	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgcataccttctgcattGagatgcatggtttccagggg	9	12	12	8	0	1	2	0	1	1	2	2	3	2	2	2	3	4	4	2	3	1	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr13:20987431G>C	ENST00000298248.7	-	6	791	c.729C>G	c.(727-729)ctC>ctG	p.L243L	CRYL1_ENST00000382812.1_Silent_p.L221L	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	243					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CTTCTGCATTGAGATGCATGG	0.463																																																	0													98	94	96					13																	20987431		1951	4151	6102	SO:0001819	synonymous_variant	0			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"crystallin, lamda 1", "L-gulonate 3-dehydrogenase", "lambda-crystallin homolog"	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.729C>G	13.37:g.20987431G>C			A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Silent	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.L243	ENST00000298248.7	37	c.729	CCDS41871.1	13																																																																																			CRYL1	-	pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	ENSG00000165475		0.463	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1	-	0	56	0	G	NM_015974		20987431	-1	tier1	-	no_errors	ENST00000298248	ensembl	human	known	74_37	silent	15.15	27	5	SNP	1.000	C	C	20987431	G	C	20987431	2	2	81	1	0	0	0	0	0	0	0	1	3927	1277	45	5		5	CRYL1	13	20987431	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	1239256	20987431	94182447	194	21461											
SLC7A1	6541	genome.wustl.edu	37	chr13	30091410	30091410	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgagagcctcccttccAagcacggtcacaatgcagaa	11	8	10	12	1	1	2	1	1	0	2	3	3	3	2	3	2	3	2	3	2	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr13:30091410A>T	ENST00000380752.5	-	11	1934	c.1548T>A	c.(1546-1548)ctT>ctA	p.L516L	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	516					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTCCCTTCCAAGCACGGTCA	0.572																																																	0													50	42	45					13																	30091410		2203	4300	6503	SO:0001819	synonymous_variant	0			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"Solute carriers"	11057	protein-coding gene	gene with protein product	"ecotropic retroviral receptor", "amino acid transporter, cationic 1"	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1548T>A	13.37:g.30091410A>T			Q5JR50	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	p.L516	ENST00000380752.5	37	c.1548	CCDS9333.1	13																																																																																			SLC7A1	-	pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease	ENSG00000139514		0.572	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A1	HGNC	protein_coding	OTTHUMT00000044337.2	-	0	30	0	A	NM_003045		30091410	-1	tier1	-	no_errors	ENST00000380752	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.022	T	T	30091410	A	T	30091410	2	4	81	1	0	0	0	0	0	0	0	1	14737	117	5	5		5	SLC7A1	13	30091410	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	9103979	30091410	85078468	195	21462											
FREM2	341640	genome.wustl.edu	37	chr13	39263254	39263254	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaactgacatggattcAgatgattctctgctgctttt	9	15	9	8	0	2	3	1	2	1	1	3	4	2	4	0	1	4	3	0	1	1	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr13:39263254A>G	ENST00000280481.7	+	1	1989	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	591					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACATGGATTCAGATGATTCTC	0.542																																																	0													142	142	142					13																	39263254		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1773A>G	13.37:g.39263254A>G			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.S591	ENST00000280481.7	37	c.1773	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.542	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	41	0	A	NM_207361		39263254	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.290	G	G	39263254	A	G	39263254	2	3	81	1	0	0	0	0	0	0	0	1	6069	175	7	4		4	FREM2	13	39263254	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	9171844	39263254	75906624	196	21463											
ARHGEF7	8874	genome.wustl.edu	37	chr13	111862249	111862249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggagtgactccgtgtgtgCccggccctcgtctcaccgca	4	8	14	15	4	1	1	1	1	1	0	4	2	2	2	4	3	1	1	4	3	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr13:111862249C>T	ENST00000375741.2	+	5	681	c.431C>T	c.(430-432)gCc>gTc	p.A144V	ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.A41V|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.A94V|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.A123V	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	144					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCGTGTGTGCCCGGCCCTCG	0.537																																																	0													206	204	205					13																	111862249		2203	4300	6503	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	15607	protein-coding gene	gene with protein product	"SH3 domain-containing proline-rich protein", "PAK-interacting exchange factor beta", "rho", "guanine nucleotide exchange factor 7"	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.431C>T	13.37:g.111862249C>T	ENSP00000364893:p.Ala144Val		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.A144V	ENST00000375741.2	37	c.431	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779739	0.49891	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000545635;ENST00000426768;ENST00000375737	T;T;T;T;T	0.52526	0.69;0.66;0.68;0.9;0.69	5.39	5.39	0.77823	Calponin homology domain (1);	0.108954	0.64402	D	0.000007	T	0.38134	0.1029	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.15141	0.001;0.012;0.004;0.008	B;B;B;B	0.15052	0.004;0.005;0.005;0.012	T	0.12889	-1.0530	10	0.48119	T	0.1	.	19.5049	0.95111	0.0:1.0:0.0:0.0	.	41;94;144;123	B7Z6G2;Q14155-2;Q14155;Q14155-3	.;.;ARHG7_HUMAN;.	V	123;144;94;121;41;41	ENSP00000325994:A123V;ENSP00000364893:A144V;ENSP00000364891:A94V;ENSP00000389890:A41V;ENSP00000364889:A41V	ENSP00000325994:A123V	A	+	2	0	ARHGEF7	110660250	1.000000	0.71417	0.986000	0.45419	0.509000	0.34042	4.312000	0.59154	2.677000	0.91161	0.655000	0.94253	GCC	ARHGEF7	-	superfamily_CH-domain	ENSG00000102606		0.537	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding			0	134	0	C	NM_001113511		111862249	1			no_errors	ENST00000375741	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	111862249	C	T	111862249	3	4	81	1	0	0	0	0	1	0	0	0	911	739	26	3	449	3	ARHGEF7	13	111862249	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	72598995	111862249	3307629	197	21464											
PCK2	5106	genome.wustl.edu	37	chr14	24567713	24567713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtgcttccattcagcAtgggtcctgtgggctccccg	4	13	12	12	1	1	0	1	0	0	0	4	0	4	0	4	2	2	4	4	2	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:24567713A>G	ENST00000216780.4	+	4	758	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	PCK2_ENST00000561286.1_Missense_Mutation_p.M30V|PCK2_ENST00000545054.2_Missense_Mutation_p.M30V|PCK2_ENST00000558096.1_Missense_Mutation_p.M30V|PCK2_ENST00000559250.1_Missense_Mutation_p.M176V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.M164V	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	164					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TCCATTCAGCATGGGTCCTGT	0.592																																																	0													70	60	63					14																	24567713		2203	4300	6503	SO:0001583	missense	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.490A>G	14.37:g.24567713A>G	ENSP00000216780:p.Met164Val		O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.M164V	ENST00000216780.4	37	c.490	CCDS9609.1	14	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337561	0.81911	.	.	ENSG00000100889	ENST00000216780;ENST00000396973;ENST00000545054	T;T;T	0.05855	3.38;3.38;3.38	5.67	5.67	0.87782	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	H	0.97131	3.945	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.998;0.995	T	0.57010	-0.7884	10	0.87932	D	0	-24.3306	13.8685	0.63603	1.0:0.0:0.0:0.0	.	30;164;164;164	B4DW73;Q16822;Q16822-2;Q6IB91	.;PCKGM_HUMAN;.;.	V	164;164;30	ENSP00000216780:M164V;ENSP00000380171:M164V;ENSP00000441826:M30V	ENSP00000216780:M164V	M	+	1	0	PCK2	23637553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.169000	0.68431	0.460000	0.39030	ATG	PCK2	-	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.592	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	-	0	47	0	A	NM_001018073		24567713	1	tier1	-	no_errors	ENST00000216780	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	G	G	24567713	A	G	24567713	3	3	81	1	0	0	0	0	1	0	0	0	11621	217	8	4	504	4	PCK2	14	24567713	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09		24567713	82781827	198	21465											
HEATR5A	25938	genome.wustl.edu	37	chr14	31855727	31855727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagcatatgttggctagcgGctacatctgtggaaccaagc	10	9	11	11	1	1	0	0	0	1	0	1	1	1	1	2	3	5	4	2	3	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:31855727G>A	ENST00000389961.3	-	8	1225	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HEATR5A_ENST00000404677.3_Missense_Mutation_p.A415V|HEATR5A_ENST00000543095.2_Missense_Mutation_p.A415V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.A122V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.A409V			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	409										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTGGCTAGCGGCTACATCTGT	0.418																																																	0													131	130	130					14																	31855727		1870	4106	5976	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1226C>T	14.37:g.31855727G>A	ENSP00000374611:p.Ala409Val		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A409V	ENST00000389961.3	37	c.1226		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367036|3.367036	0.61513|0.61513	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000538864	T;T;T;T;T|.	0.65178|.	3.26;3.26;-0.14;3.26;3.26|.	5.93|5.93	5.02|5.02	0.67125|0.67125	Armadillo-type fold (1);|.	0.315315|.	0.33610|.	N|.	0.004724|.	T|T	0.51924|0.51924	0.1703|0.1703	L|L	0.55481|0.55481	1.735|1.735	0.28550|0.28550	N|N	0.911679|0.911679	B;B;B|.	0.24258|.	0.033;0.1;0.012|.	B;B;B|.	0.24541|.	0.044;0.041;0.054|.	T|T	0.47497|0.47497	-0.9113|-0.9113	10|5	0.13470|.	T|.	0.59|.	.|.	11.4696|11.4696	0.50261|0.50261	0.0677:0.1264:0.8059:0.0|0.0677:0.1264:0.8059:0.0	.|.	415;409;409|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	V|S	409;409;122;415;415|43	ENSP00000374611:A409V;ENSP00000405407:A409V;ENSP00000408681:A122V;ENSP00000437968:A415V;ENSP00000384646:A415V|.	ENSP00000374611:A409V|.	A|P	-|-	2|1	0|0	HEATR5A|HEATR5A	30925478|30925478	0.670000|0.670000	0.27512|0.27512	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.347000|3.347000	0.52200|0.52200	2.814000|2.814000	0.96858|0.96858	0.591000|0.591000	0.81541|0.81541	GCC|CCG	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.418	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		-	0	50	0	G	NM_015473		31855727	-1	tier1	-	no_errors	ENST00000389961	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.894	A	A	31855727	G	A	31855727	3	1	81	1	0	0	0	0	1	0	0	0	7058	1203	42	3	5008	3	HEATR5A	14	31855727	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	7288014	31855727	75493813	199	21466											
MDGA2	161357	genome.wustl.edu	37	chr14	47770715	47770715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcctcttcaatgttacAggccaagcctgagtgcacaa	10	9	9	13	1	2	1	1	1	1	0	3	1	3	1	3	1	3	3	3	1	4	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:47770715A>G	ENST00000399232.2	-	2	476	c.112T>C	c.(112-114)Tgt>Cgt	p.C38R	MDGA2_ENST00000472499.2_5'UTR|MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.C107R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	38	Ig-like 1.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCAATGTTACAGGCCAAGCCT	0.493																																																	0													163	142	148					14																	47770715		692	1591	2283	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.112T>C	14.37:g.47770715A>G	ENSP00000382178:p.Cys38Arg		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.C107R	ENST00000399232.2	37	c.319		14	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696485	0.48202	.	.	ENSG00000139915	ENST00000439988;ENST00000399232;ENST00000486952	T;T;T	0.62788	0.18;0.01;0.0	5.2	5.2	0.72013	Immunoglobulin-like (1);	0.000000	0.38663	U	0.001616	T	0.72415	0.3457	L	0.52126	1.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68788	-0.5316	10	0.24483	T	0.36	.	14.2208	0.65826	1.0:0.0:0.0:0.0	.	38	Q7Z553	MDGA2_HUMAN	R	38;107;62	ENSP00000400011:C38R;ENSP00000382178:C107R;ENSP00000452515:C62R	ENSP00000382178:C107R	C	-	1	0	MDGA2	46840465	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	8.962000	0.93254	2.096000	0.63516	0.528000	0.53228	TGT	MDGA2	-	pfscan_Ig-like_dom	ENSG00000272781		0.493	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	30	0	A	NM_182830		47770715	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	G	G	47770715	A	G	47770715	3	3	81	1	0	0	0	0	1	0	0	0	9445	188	7	4	2822	4	MDGA2	14	47770715	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	15914988	47770715	59578825	200	21467											
ABHD12B	145447	genome.wustl.edu	37	chr14	51347290	51347290	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggcagtgcagaacacagGtcagtggctctgcttacata	11	9	11	10	0	2	1	1	0	1	1	2	1	2	1	0	3	4	4	0	3	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:51347290G>T	ENST00000337334.2	+	4	470		c.e4+1		ABHD12B_ENST00000395752.1_Splice_Site|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_Splice_Site|ABHD12B_ENST00000353130.1_Splice_Site	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B								hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					CAGAACACAGGTCAGTGGCTC	0.478																																																	0													143	130	134					14																	51347290		2203	4300	6503	SO:0001630	splice_region_variant	0			BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"Abhydrolase domain containing"	19837	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 29"	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.455+1G>T	14.37:g.51347290G>T			Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Splice_Site	SNP	-	e4+1	ENST00000337334.2	37	c.455+1	CCDS55916.1	14	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507538	0.85282	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5804	0.76432	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABHD12B	50417040	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.805000	0.91925	2.832000	0.97577	0.655000	0.94253	.	ABHD12B	-	-	ENSG00000131969		0.478	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABHD12B	HGNC	protein_coding	OTTHUMT00000411030.1	-	0	51	0	G		Intron	51347290	1	tier1	-	no_errors	ENST00000337334	ensembl	human	known	74_37	splice_site	13.64	19	3	SNP	1.000	T	T	51347290	G	T	51347290	5	4	81	1	0	0	0	0	0	0	1	0	77	1275	44	3	249	3	ABHD12B	14	51347290	Splice_Site	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	3576575	51347290	56002250	201	21468											
SYT16	83851	genome.wustl.edu	37	chr14	62550971	62550971	+	Frame_Shift_Del	DEL	A	A	-																															acagtgatagtacttcatccAcgcagtcgctgtctcatgga																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:62550971delA	ENST00000430451.2	+	5	1689	c.1492delA	c.(1492-1494)acgfs	p.T498fs		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	498					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TACTTCATCCACGCAGTCGCT	0.557																																																	0													111	108	109					14																	62550971		2005	4172	6177	SO:0001589	frameshift_variant	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"Synaptotagmins"	23142	protein-coding gene	gene with protein product	"synaptotagmin XIV-related", " chr14 synaptotagmin"	610950	"synaptotagmin XIV-like"	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1492delA	14.37:g.62550971delA	ENSP00000394700:p.Thr498fs		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Frame_Shift_Del	DEL	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T498fs	ENST00000430451.2	37	c.1492	CCDS45121.1	14																																																																																			SYT16	-	NULL	ENSG00000139973		0.557	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1		0	65	0	A	NM_031914		62550971	1	tier1		no_errors	ENST00000430451	ensembl	human	novel	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-	-	62550971	A	-	62550971	7	5	81	1	0	1	0	1	0	0	0	0	15519	159	6	0	1510	0	SYT16	14	62550971	Frame_Shift_Del	DEL	A	TCGA-L5-A8NG-01A-11D-A37C-09	11203681	62550971	44798569	202	21469											
ABCD4	5826	genome.wustl.edu	37	chr14	74759556	74759556	+	Frame_Shift_Del	DEL	A	A	-																															aggatgctgcccagatagtcAaaggtgttgatgccgactgt																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:74759556delA	ENST00000356924.4	-	9	974	c.831delT	c.(829-831)tttfs	p.F277fs	ABCD4_ENST00000557554.1_Intron|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Frame_Shift_Del_p.F173fs|ABCD4_ENST00000557588.1_Stop_Codon_Del	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	277	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		CCAGATAGTCAAAGGTGTTGA	0.542																																																	0													96	96	96					14																	74759556		2203	4300	6503	SO:0001589	frameshift_variant	0			AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"ATP binding cassette transporters / subfamily D"	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.831delT	14.37:g.74759556delA	ENSP00000349396:p.Phe277fs		A8K5L7|Q6IAQ0|Q96E75	Frame_Shift_Del	DEL	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F277fs	ENST00000356924.4	37	c.831	CCDS9828.1	14																																																																																			ABCD4	-	pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000119688		0.542	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD4	HGNC	protein_coding	OTTHUMT00000314382.1		0	25	0	A	NM_005050		74759556	-1	tier1		no_errors	ENST00000356924	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.998	-	-	74759556	A	-	74759556	7	5	81	1	0	1	0	1	0	0	0	0	63	127	5	0	1033	0	ABCD4	14	74759556	Frame_Shift_Del	DEL	A	TCGA-L5-A8NG-01A-11D-A37C-09	12208585	74759556	32589984	203	21470											
CCDC88C	440193	genome.wustl.edu	37	chr14	91739932	91739932	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggttggcctccgatGgctgggggatcgctggcctt	2	11	17	11	2	0	0	0	0	0	0	3	2	2	1	4	7	0	3	4	7	0	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:91739932G>T	ENST00000389857.6	-	30	5210	c.5124C>A	c.(5122-5124)gcC>gcA	p.A1708A	CCDC88C_ENST00000331194.7_Silent_p.A232A	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1708					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGCCTCCGATGGCTGGGGGAT	0.612																																																	0													42	47	45					14																	91739932		2043	4178	6221	SO:0001819	synonymous_variant	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.5124C>A	14.37:g.91739932G>T			Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.A1708	ENST00000389857.6	37	c.5124	CCDS45151.1	14																																																																																			CCDC88C	-	NULL	ENSG00000015133		0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	-	0	89	0	G	XM_029353		91739932	-1	tier1	-	no_errors	ENST00000389857	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.264	T	T	91739932	G	T	91739932	2	4	81	1	0	0	0	0	0	0	0	1	2872	1335	47	3		3	CCDC88C	14	91739932	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	16980376	91739932	15609608	204	21471											
C14orf177	283598	genome.wustl.edu	37	chr14	99183561	99183561	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcattttgtgctacaccaAgatttaagcagctgttcaaa	12	13	7	9	0	1	1	1	0	0	1	1	1	1	1	1	0	5	5	1	0	4	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:99183561A>C	ENST00000325812.2	+	4	747	c.328A>C	c.(328-330)Aga>Cga	p.R110R		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	110										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				TGCTACACCAAGATTTAAGCA	0.398																																																	0													114	92	99					14																	99183561		2203	4300	6503	SO:0001819	synonymous_variant	0			AK098639	CCDS9948.1	14q32.2	2012-05-30			ENSG00000176605	ENSG00000176605			26375	protein-coding gene	gene with protein product						12477932	Standard	NM_182560		Approved	FLJ25773	uc001yfz.2	Q52M58	OTTHUMG00000167745	ENST00000325812.2:c.328A>C	14.37:g.99183561A>C			Q8N7D2	Silent	SNP	NULL	p.R110	ENST00000325812.2	37	c.328	CCDS9948.1	14																																																																																			C14orf177	-	NULL	ENSG00000176605		0.398	C14orf177-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf177	HGNC	protein_coding	OTTHUMT00000396078.1	-	0	52	0	A	NM_182560		99183561	1	tier1	-	no_errors	ENST00000325812	ensembl	human	known	74_37	silent	30.56	25	11	SNP	0.000	C	C	99183561	A	C	99183561	2	2	81	1	0	0	0	0	0	0	0	1	1765	64	3	4		4	C14orf177	14	99183561	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	7443629	99183561	8165979	205	21472											
ZFYVE21	79038	genome.wustl.edu	37	chr14	104194146	104194146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccagaaggtgccgctgCggcgcatgtgctttgtggac	6	8	16	11	3	0	1	0	0	0	1	0	2	0	2	2	3	4	4	2	3	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:104194146C>T	ENST00000311141.2	+	3	287	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	ZFYVE21_ENST00000216602.6_Missense_Mutation_p.R85W|Y_RNA_ENST00000517287.1_RNA	NM_024071.3	NP_076976.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	85						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		GGTGCCGCTGCGGCGCATGTG	0.657																																																	0													50	47	48					14																	104194146		2202	4300	6502	SO:0001583	missense	0			AK057816	CCDS9985.1, CCDS55948.1	14q32.33	2011-09-07						"Zinc fingers, FYVE domain containing"	20760	protein-coding gene	gene with protein product		613504				21768110	Standard	NM_024071		Approved	MGC2550, ZF21	uc001yod.3	Q9BQ24		ENST00000311141.2:c.253C>T	14.37:g.104194146C>T	ENSP00000310543:p.Arg85Trp		A8K3A4|Q86T05|Q96LT1	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.R85W	ENST00000311141.2	37	c.253	CCDS9985.1	14	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702245	0.88924	.	.	ENSG00000100711	ENST00000216602;ENST00000311141	T;T	0.43294	0.95;0.95	4.2	3.3	0.37823	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.253915	0.39475	N	0.001360	T	0.51702	0.1690	L	0.43923	1.385	0.35044	D	0.760016	D;D	0.76494	0.998;0.999	P;P	0.61397	0.888;0.862	T	0.65886	-0.6059	10	0.87932	D	0	0.0751	13.3211	0.60434	0.1596:0.8404:0.0:0.0	.	85;85	Q9BQ24-2;Q9BQ24	.;ZFY21_HUMAN	W	85	ENSP00000216602:R85W;ENSP00000310543:R85W	ENSP00000216602:R85W	R	+	1	2	ZFYVE21	103263899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.837000	0.55820	0.948000	0.37687	0.561000	0.74099	CGG	ZFYVE21	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000100711		0.657	ZFYVE21-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZFYVE21	HGNC	protein_coding	OTTHUMT00000414616.1	-	0	61	0	C	NM_024071		104194146	1	tier1	-	no_errors	ENST00000216602	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	104194146	C	T	104194146	3	4	81	1	0	0	0	0	1	0	0	0	17715	759	27	1	263	1	ZFYVE21	14	104194146	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5010585	104194146	3155394	206	21473											
PLD4	122618	genome.wustl.edu	37	chr14	105395191	105395191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctggacactgcccaGgagagcgtccacgtggcttc	7	7	13	14	2	0	1	0	0	0	1	2	3	1	2	2	3	4	3	2	3	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:105395191G>T	ENST00000392593.4	+	4	558	c.390G>T	c.(388-390)caG>caT	p.Q130H	PLD4_ENST00000540372.1_Missense_Mutation_p.Q137H	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	130					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			ACACTGCCCAGGAGAGCGTCC	0.672																																																	0													42	46	45					14																	105395191		2027	4200	6227	SO:0001583	missense	0				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.390G>T	14.37:g.105395191G>T	ENSP00000376372:p.Gln130His		Q6UWD2	Missense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.Q130H	ENST00000392593.4	37	c.390	CCDS9995.2	14	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778996	0.31502	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.15372	2.43;2.43;2.43	4.45	0.2	0.15181	.	0.640222	0.15637	N	0.252083	T	0.13114	0.0318	L	0.46885	1.475	0.80722	D	1	B;B	0.22604	0.072;0.043	B;B	0.31547	0.132;0.062	T	0.14896	-1.0456	10	0.32370	T	0.25	-0.0056	1.943	0.03351	0.185:0.1586:0.4935:0.163	.	137;130	F5H2B5;Q96BZ4	.;PLD4_HUMAN	H	137;130;128	ENSP00000438677:Q137H;ENSP00000376372:Q130H;ENSP00000451278:Q128H	ENSP00000376372:Q130H	Q	+	3	2	PLD4	104466236	0.000000	0.05858	0.293000	0.24932	0.955000	0.61496	0.066000	0.14489	0.058000	0.16222	0.645000	0.84053	CAG	PLD4	-	NULL	ENSG00000166428		0.672	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2		0	106	0	G	NM_138790		105395191	1			no_errors	ENST00000392593	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.889	T	T	105395191	G	T	105395191	3	4	81	1	0	0	0	0	1	0	0	0	12087	991	35	3	400	3	PLD4	14	105395191	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	1201045	105395191	1954349	207	21474											
AHNAK2	113146	genome.wustl.edu	37	chr14	105408919	105408919	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtctttggcagtcatgTccttgtcggctagggacagg	5	13	14	9	1	2	0	1	0	1	0	4	1	3	1	1	4	1	3	1	4	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr14:105408919T>G	ENST00000333244.5	-	7	12988	c.12869A>C	c.(12868-12870)gAc>gCc	p.D4290A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4290						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGTCATGTCCTTGTCGGC	0.607																																																	0													223	237	232					14																	105408919		2021	4156	6177	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12869A>C	14.37:g.105408919T>G	ENSP00000353114:p.Asp4290Ala		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D4290A	ENST00000333244.5	37	c.12869	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	t	12.30	1.895317	0.33442	.	.	ENSG00000185567	ENST00000333244	T	0.01947	4.54	3.22	3.22	0.36961	.	3.747810	0.02059	U	0.050607	T	0.15219	0.0367	M	0.91717	3.235	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.22556	-1.0213	10	0.20046	T	0.44	.	4.1556	0.10260	0.1879:0.0:0.2285:0.5836	.	4290	Q8IVF2	AHNK2_HUMAN	A	4290	ENSP00000353114:D4290A	ENSP00000353114:D4290A	D	-	2	0	AHNAK2	104479964	0.146000	0.22672	0.012000	0.15200	0.014000	0.08584	-0.231000	0.09069	1.111000	0.41721	0.241000	0.17934	GAC	AHNAK2	-	NULL	ENSG00000185567		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	175	0	T	NM_138420		105408919	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	11.00	89	11	SNP	0.000	G	G	105408919	T	G	105408919	3	3	81	1	0	0	0	0	1	0	0	0	415	1667	58	4	4522	4	AHNAK2	14	105408919	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	13728	105408919	1940621	208	21475											
OR4N4	283694	genome.wustl.edu	37	chr15	22382738	22382738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggacttcctctctgagaAaaaggtaatctcctacagag	12	10	10	9	0	2	2	0	1	2	2	5	4	3	3	2	3	1	1	2	3	4	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:22382738A>G	ENST00000328795.4	+	1	357	c.266A>G	c.(265-267)aAa>aGa	p.K89R	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTCTGAGAAAAAGGTAATC	0.507																																																	0													49	51	50					15																	22382738		2185	4257	6442	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.266A>G	15.37:g.22382738A>G	ENSP00000332500:p.Lys89Arg		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K89R	ENST00000328795.4	37	c.266	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.784064	0.00628	.	.	ENSG00000183706	ENST00000328795	T	0.03035	4.07	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.02083	0.0065	N	0.13235	0.315	0.23791	N	0.996836	B	0.06786	0.001	B	0.08055	0.003	T	0.46843	-0.9162	10	0.06236	T	0.91	-9.5068	9.7766	0.40623	1.0:0.0:0.0:0.0	.	89	Q8N0Y3	OR4N4_HUMAN	R	89	ENSP00000332500:K89R	ENSP00000332500:K89R	K	+	2	0	OR4N4	19884102	0.000000	0.05858	1.000000	0.80357	0.053000	0.15095	0.124000	0.15728	1.461000	0.47929	0.155000	0.16302	AAA	OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183706		0.507	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1		0	42	0	A			22382738	1			no_errors	ENST00000328795	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.944	G	G	22382738	A	G	22382738	3	3	81	1	0	0	0	0	1	0	0	0	11117	14	1	4	268	4	OR4N4	15	22382738	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09		22382738	80148654	209	21476											
ATP10A	57194	genome.wustl.edu	37	chr15	25947173	25947173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagtgagaacccaaatctGcaggcccgcttgacgcaatt	12	7	9	13	2	1	2	0	2	1	1	1	3	1	2	3	1	2	3	3	1	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:25947173G>T	ENST00000356865.6	-	13	2761	c.2650C>A	c.(2650-2652)Cag>Aag	p.Q884K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	884					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCCAAATCTGCAGGCCCGCT	0.522																																																	0													161	149	153					15																	25947173		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2650C>A	15.37:g.25947173G>T	ENSP00000349325:p.Gln884Lys		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.Q884K	ENST00000356865.6	37	c.2650	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013767	0.54468	.	.	ENSG00000206190	ENST00000356865	T	0.64803	-0.12	5.38	5.38	0.77491	HAD-like domain (2);	0.048723	0.85682	D	0.000000	T	0.39036	0.1063	N	0.02916	-0.46	0.54753	D	0.999986	B	0.20052	0.041	B	0.28139	0.086	T	0.42498	-0.9448	10	0.02654	T	1	-32.8848	19.125	0.93378	0.0:0.0:1.0:0.0	.	884	O60312	AT10A_HUMAN	K	884	ENSP00000349325:Q884K	ENSP00000349325:Q884K	Q	-	1	0	ATP10A	23498266	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.534000	0.98061	2.520000	0.84964	0.561000	0.74099	CAG	ATP10A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.522	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	106	0	G	NM_024490		25947173	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	9.30	38	4	SNP	1.000	T	T	25947173	G	T	25947173	3	4	81	1	0	0	0	0	1	0	0	0	1117	1328	46	3	1885	3	ATP10A	15	25947173	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	3564435	25947173	76584219	210	21477											
ATP10A	57194	genome.wustl.edu	37	chr15	25959185	25959185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgatggccgaggtgggCtggcccagcctctcctccag	4	7	15	15	2	1	0	0	0	1	0	3	2	2	0	5	5	1	1	5	5	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:25959185C>A	ENST00000356865.6	-	10	2091	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	660					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCGAGGTGGGCTGGCCCAGCC	0.677																																																	0													28	31	30					15																	25959185		2203	4299	6502	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1980G>T	15.37:g.25959185C>A	ENSP00000349325:p.Gln660His		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.Q660H	ENST00000356865.6	37	c.1980	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	2.106	-0.404888	0.04832	.	.	ENSG00000206190	ENST00000356865	T	0.10573	2.86	3.77	-0.864	0.10666	HAD-like domain (1);	1.182170	0.05706	N	0.595005	T	0.08537	0.0212	L	0.31752	0.955	0.09310	N	1	B	0.06786	0.001	B	0.18263	0.021	T	0.41805	-0.9488	10	0.44086	T	0.13	-7.3726	5.7968	0.18392	0.0:0.2953:0.4763:0.2284	.	660	O60312	AT10A_HUMAN	H	660	ENSP00000349325:Q660H	ENSP00000349325:Q660H	Q	-	3	2	ATP10A	23510278	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	0.890000	0.28295	0.048000	0.15891	0.561000	0.74099	CAG	ATP10A	-	superfamily_HAD-like_dom	ENSG00000206190		0.677	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0	120	0	C	NM_024490		25959185	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.000	A	A	25959185	C	A	25959185	3	1	81	1	0	0	0	0	1	0	0	0	1117	796	28	3	2567	3	ATP10A	15	25959185	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	12012	25959185	76572207	211	21478											
SPG11	80208	genome.wustl.edu	37	chr15	44952662	44952662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaatgagcttttgcaatGcctccctactacagctatac	10	12	6	13	1	1	1	1	1	0	0	2	1	2	1	2	0	7	3	2	0	6	6	rs312262714		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:44952662G>A	ENST00000261866.7	-	2	426	c.410C>T	c.(409-411)gCa>gTa	p.A137V	SPG11_ENST00000427534.2_Missense_Mutation_p.A137V|SPG11_ENST00000558319.1_Missense_Mutation_p.A137V|SPG11_ENST00000559193.1_Missense_Mutation_p.A137V|SPG11_ENST00000535302.2_Missense_Mutation_p.A137V	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	137					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CTTTTGCAATGCCTCCCTACT	0.353																																																	0													220	203	209					15																	44952662		2198	4298	6496	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.410C>T	15.37:g.44952662G>A	ENSP00000261866:p.Ala137Val		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.A137V	ENST00000261866.7	37	c.410	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	4.402	0.074305	0.08485	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.76839	-1.05;-0.79;-0.79	5.85	-0.613	0.11594	.	0.894601	0.09904	N	0.740671	T	0.49133	0.1539	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.22211	0.003;0.066;0.023;0.003	B;B;B;B	0.15484	0.003;0.011;0.013;0.003	T	0.38243	-0.9670	10	0.56958	D	0.05	.	1.6494	0.02768	0.3273:0.2191:0.3415:0.1121	.	137;137;137;137	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	V	137	ENSP00000261866:A137V;ENSP00000445278:A137V;ENSP00000396110:A137V	ENSP00000261866:A137V	A	-	2	0	SPG11	42739954	0.001000	0.12720	0.005000	0.12908	0.091000	0.18340	0.161000	0.16481	-0.096000	0.12329	-0.781000	0.03364	GCA	SPG11	-	NULL	ENSG00000104133		0.353	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1		0	56	0	G			44952662	-1			no_errors	ENST00000261866	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.000	A	A	44952662	G	A	44952662	3	1	81	1	0	0	0	0	1	0	0	0	15088	1319	46	3	7077	3	SPG11	15	44952662	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	18993477	44952662	57578730	212	21479											
SEMA6D	80031	genome.wustl.edu	37	chr15	48054408	48054408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtttcagatgggaagctgTattctgccacagtggctgac	8	12	13	8	0	2	2	1	1	1	1	2	3	2	3	1	3	2	4	1	3	2	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:48054408T>C	ENST00000316364.5	+	8	989	c.550T>C	c.(550-552)Tat>Cat	p.Y184H	SEMA6D_ENST00000537942.1_Missense_Mutation_p.Y184H|SEMA6D_ENST00000389425.3_Missense_Mutation_p.Y184H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.Y184H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.Y184H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.Y184H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.Y184H|SEMA6D_ENST00000558014.1_Missense_Mutation_p.Y184H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.Y184H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.Y184H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.Y184H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.Y184H	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	184	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGGGAAGCTGTATTCTGCCAC	0.443																																																	0													111	103	106					15																	48054408		2198	4297	6495	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.550T>C	15.37:g.48054408T>C	ENSP00000324857:p.Tyr184His		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.Y184H	ENST00000316364.5	37	c.550	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	T	29.1	4.976849	0.92982	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92;1.92	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	H	0.96301	3.8	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.998	T	0.77731	-0.2478	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	184;184;184;184;184	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	H	184	ENSP00000442040:Y184H;ENSP00000446152:Y184H;ENSP00000324857:Y184H;ENSP00000374084:Y184H;ENSP00000374083:Y184H;ENSP00000346786:Y184H;ENSP00000350770:Y184H;ENSP00000374079:Y184H;ENSP00000348276:Y184H;ENSP00000374076:Y184H	ENSP00000324857:Y184H	Y	+	1	0	SEMA6D	45841700	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	TAT	SEMA6D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000137872		0.443	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	-	0	58	0	T	NM_024966		48054408	1	tier1	-	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	C	C	48054408	T	C	48054408	3	2	81	1	0	0	0	0	1	0	0	0	14087	1638	57	4	576	4	SEMA6D	15	48054408	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	3101746	48054408	54476984	213	21480											
MYEF2	50804	genome.wustl.edu	37	chr15	48435245	48435245	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactttccattctccatttTtatttctgcaaacattacat	10	19	2	10	0	2	1	0	1	2	0	4	1	3	1	2	0	3	1	2	0	3	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:48435245T>G	ENST00000324324.7	-	17	1942	c.1663A>C	c.(1663-1665)Aaa>Caa	p.K555Q	MYEF2_ENST00000267836.6_Missense_Mutation_p.K531Q	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	555	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTCTCCATTTTTATTTCTGCA	0.328																																																	0													80	81	81					15																	48435245		2198	4297	6495	SO:0001583	missense	0			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"RNA binding motif (RRM) containing"	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1663A>C	15.37:g.48435245T>G	ENSP00000316950:p.Lys555Gln		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K555Q	ENST00000324324.7	37	c.1663	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029983	0.75504	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.17054	2.3;2.3	5.38	5.38	0.77491	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.043175	0.85682	D	0.000000	T	0.30262	0.0759	L	0.28192	0.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.05500	-1.0881	10	0.62326	D	0.03	-7.9217	15.6816	0.77373	0.0:0.0:0.0:1.0	.	531;555	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	Q	555;531;143	ENSP00000316950:K555Q;ENSP00000267836:K531Q	ENSP00000267836:K531Q	K	-	1	0	MYEF2	46222537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.968000	0.87980	2.153000	0.67306	0.533000	0.62120	AAA	MYEF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000104177		0.328	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	-	0	36	0	T	NM_016132		48435245	-1	tier1	-	no_errors	ENST00000324324	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	G	G	48435245	T	G	48435245	3	3	81	1	0	0	0	0	1	0	0	0	10062	1850	64	4	143	4	MYEF2	15	48435245	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	380837	48435245	54096147	214	21481											
DTWD1	56986	genome.wustl.edu	37	chr15	49917567	49917567	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtggttccagaatgttctActgctatacatgttatgttc	8	17	9	7	0	1	1	0	0	1	1	3	1	2	1	1	2	3	5	1	2	5	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:49917567A>C	ENST00000251250.6	+	3	410	c.203A>C	c.(202-204)tAc>tCc	p.Y68S	DTWD1_ENST00000403028.3_Missense_Mutation_p.Y68S|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000329873.5_Missense_Mutation_p.Y68S|DTWD1_ENST00000558653.1_Missense_Mutation_p.Y68S	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	68										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AGAATGTTCTACTGCTATACA	0.343																																																	0													94	87	90					15																	49917567		2196	4295	6491	SO:0001583	missense	0			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.203A>C	15.37:g.49917567A>C	ENSP00000251250:p.Tyr68Ser		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	pfam_DTW	p.Y68S	ENST00000251250.6	37	c.203	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881101	0.72294	.	.	ENSG00000104047	ENST00000403028;ENST00000329873;ENST00000251250	T;T;T	0.36520	1.41;1.25;1.41	5.09	5.09	0.68999	DTW (1);	0.052045	0.85682	D	0.000000	T	0.61912	0.2385	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.65985	-0.6035	9	.	.	.	-9.4207	15.1692	0.72858	1.0:0.0:0.0:0.0	.	68	Q8N5C7	DTWD1_HUMAN	S	68	ENSP00000385399:Y68S;ENSP00000329313:Y68S;ENSP00000251250:Y68S	.	Y	+	2	0	DTWD1	47704859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.292000	0.72725	2.029000	0.59856	0.482000	0.46254	TAC	DTWD1	-	pfam_DTW	ENSG00000104047		0.343	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2	-	0	160	0	A	NM_020234		49917567	1	tier1	-	no_errors	ENST00000251250	ensembl	human	known	74_37	missense	13.43	56	9	SNP	1.000	C	C	49917567	A	C	49917567	3	2	81	1	0	0	0	0	1	0	0	0	4805	391	14	4	205	4	DTWD1	15	49917567	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1482322	49917567	52613825	215	21482											
MYO5A	4644	genome.wustl.edu	37	chr15	52700308	52700308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcacaaagctgataGaagatatgatagtttctctc	13	11	10	7	0	1	5	0	3	1	2	3	5	1	5	0	1	1	4	0	1	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:52700308G>T	ENST00000399231.3	-	7	1029	c.786C>A	c.(784-786)ttC>ttA	p.F262L	MYO5A_ENST00000553916.1_Missense_Mutation_p.F262L|MYO5A_ENST00000358212.6_Missense_Mutation_p.F262L|MYO5A_ENST00000356338.6_Missense_Mutation_p.F262L|MYO5A_ENST00000399233.2_Missense_Mutation_p.F262L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	262	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AAAGCTGATAGAAGATATGAT	0.303																																																	0													106	99	101					15																	52700308		1799	4074	5873	SO:0001583	missense	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"Myosins / Myosin superfamily : Class V"	7602	protein-coding gene	gene with protein product	"myosin, heavy polypeptide kinase", "myosin heavy chain 12", "myoxin", "myosin V"	160777	"myosin VA (heavy polypeptide 12, myoxin)"	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.786C>A	15.37:g.52700308G>T	ENSP00000382177:p.Phe262Leu		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F262L	ENST00000399231.3	37	c.786	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034300	0.75617	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94	5.51	3.62	0.41486	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	H	0.96777	3.88	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.76071	0.986;0.987	D	0.98561	1.0641	10	0.87932	D	0	.	6.6767	0.23098	0.1917:0.1463:0.6621:0.0	.	262;262	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	L	262	ENSP00000382177:F262L;ENSP00000382179:F262L;ENSP00000348693:F262L;ENSP00000350945:F262L;ENSP00000451109:F262L	ENSP00000348693:F262L	F	-	3	2	MYO5A	50487600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.897000	0.39799	0.793000	0.33875	-0.274000	0.10170	TTC	MYO5A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197535		0.303	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	-	0	48	0	G	NM_000259		52700308	-1	tier1	-	no_errors	ENST00000358212	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	52700308	G	T	52700308	3	4	81	1	0	0	0	0	1	0	0	0	10116	933	33	3	4921	3	MYO5A	15	52700308	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2782741	52700308	49831084	216	21483											
SLC28A1	9154	genome.wustl.edu	37	chr15	85478705	85478705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtacaagcaacgccgcctgGcaggggccgaggagtgggtc	9	4	17	11	3	0	0	0	0	0	0	1	2	0	1	3	5	3	3	3	5	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:85478705G>T	ENST00000286749.3	+	14	1627	c.1537G>T	c.(1537-1539)Gca>Tca	p.A513S	RNU6-339P_ENST00000384310.1_RNA|SLC28A1_ENST00000537216.1_Missense_Mutation_p.A513S|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A513S|SLC28A1_ENST00000394573.1_Missense_Mutation_p.A513S			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	513					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ACGCCGCCTGGCAGGGGCCGA	0.612																																																	0													107	103	104					15																	85478705		2203	4299	6502	SO:0001583	missense	0			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"Solute carriers"	11001	protein-coding gene	gene with protein product		606207	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1537G>T	15.37:g.85478705G>T	ENSP00000286749:p.Ala513Ser		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.A513S	ENST00000286749.3	37	c.1537	CCDS10334.1	15	.	.	.	.	.	.	.	.	.	.	G	0.180	-1.063471	0.01934	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.01854	4.6;4.68;4.71;4.71	5.12	3.24	0.37175	Na dependent nucleoside transporter, C-terminal (1);	0.405878	0.27442	N	0.019352	T	0.00845	0.0028	N	0.01779	-0.725	0.09310	N	0.999997	B;B;B	0.12013	0.005;0.002;0.005	B;B;B	0.16289	0.01;0.006;0.015	T	0.48352	-0.9043	10	0.02654	T	1	-15.1387	6.1332	0.20217	0.0863:0.0:0.5827:0.331	.	513;513;513	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	S	513	ENSP00000440546:A513S;ENSP00000444700:A513S;ENSP00000286749:A513S;ENSP00000378074:A513S	ENSP00000286749:A513S	A	+	1	0	SLC28A1	83279709	0.000000	0.05858	0.404000	0.26397	0.558000	0.35554	0.279000	0.18771	0.735000	0.32537	0.455000	0.32223	GCA	SLC28A1	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac	ENSG00000156222		0.612	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A1	HGNC	protein_coding	OTTHUMT00000308998.2	-	0	47	0	G			85478705	1	tier1	-	no_errors	ENST00000286749	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.007	T	T	85478705	G	T	85478705	3	4	81	1	0	0	0	0	1	0	0	0	14576	1203	42	3	1658	3	SLC28A1	15	85478705	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	32778397	85478705	17052687	217	21484											
IGF1R	3480	genome.wustl.edu	37	chr15	99467158	99467158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccaaggcctgaaaacTccatctttttaaagtggccg	11	9	11	10	1	1	1	0	1	1	0	2	2	2	2	4	3	2	0	4	3	5	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr15:99467158T>C	ENST00000268035.6	+	12	3150	c.2539T>C	c.(2539-2541)Tcc>Ccc	p.S847P	IGF1R_ENST00000558762.1_Missense_Mutation_p.S847P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	847	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	GCCTGAAAACTCCATCTTTTT	0.458																																																	0													85	89	88					15																	99467158		2197	4297	6494	SO:0001583	missense	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"CD molecules", "Fibronectin type III domain containing"	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2539T>C	15.37:g.99467158T>C	ENSP00000268035:p.Ser847Pro		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.S847P	ENST00000268035.6	37	c.2539	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	T	16.76	3.211315	0.58343	.	.	ENSG00000140443	ENST00000268035	T	0.63417	-0.04	5.81	3.37	0.38596	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.361853	0.23058	N	0.052405	T	0.69869	0.3159	M	0.91038	3.17	0.30703	N	0.750068	B;B	0.33238	0.403;0.003	B;B	0.41691	0.364;0.022	T	0.70791	-0.4776	10	0.45353	T	0.12	.	5.6697	0.17715	0.4549:0.0:0.1164:0.4287	.	847;847	C9J5X1;P08069	.;IGF1R_HUMAN	P	847	ENSP00000268035:S847P	ENSP00000268035:S847P	S	+	1	0	IGF1R	97284681	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	3.113000	0.50376	0.994000	0.38892	0.482000	0.46254	TCC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000140443		0.458	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	-	0	98	0	T	NM_000875		99467158	1	tier1	-	no_errors	ENST00000268035	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	C	C	99467158	T	C	99467158	3	2	81	1	0	0	0	0	1	0	0	0	7598	1551	54	4	2585	4	IGF1R	15	99467158	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	13988453	99467158	3064234	218	21485											
PKD1	5310	genome.wustl.edu	37	chr16	2140000	2140000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaacacggcttggaggcGggagggctcaggctcacacc	8	5	15	13	3	2	0	2	0	0	0	3	3	2	2	1	6	1	3	1	6	1	1	rs569380424		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:2140000G>A	ENST00000262304.4	-	46	12848	c.12640C>T	c.(12640-12642)Cgc>Tgc	p.R4214C	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R4213C|MIR1225_ENST00000408729.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4214					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTTGGAGGCGGGAGGGCTCA	0.667													G|||	1	0.000199681	0	0	5008	,	,		13334	0		0	False		,,,				2504	0.001																0													25	25	25					16																	2140000		2191	4290	6481	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12640C>T	16.37:g.2140000G>A	ENSP00000262304:p.Arg4214Cys		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.R4214C	ENST00000262304.4	37	c.12640	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587303	0.46110	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.48836	0.8;0.8	4.88	2.91	0.33838	.	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	M	0.80183	2.485	0.54753	D	0.999981	P;D	0.89917	0.877;1.0	B;D	0.97110	0.038;1.0	T	0.63251	-0.6679	10	0.87932	D	0	.	5.8787	0.18844	0.1607:0.0:0.6857:0.1536	.	4213;4214	P98161-3;P98161	.;PKD1_HUMAN	C	4214;4213;3548	ENSP00000262304:R4214C;ENSP00000399501:R4213C	ENSP00000262304:R4214C	R	-	1	0	PKD1	2080001	0.993000	0.37304	0.734000	0.30879	0.833000	0.47200	2.952000	0.49097	0.467000	0.27218	0.491000	0.48974	CGC	PKD1	-	NULL	ENSG00000008710		0.667	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	66	0	G			2140000	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.993	A	A	2140000	G	A	2140000	3	1	81	1	0	0	0	0	1	0	0	0	12002	1116	39	1	275	1	PKD1	16	2140000	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		2140000	88214753	219	21486											
PRSS21	10942	genome.wustl.edu	37	chr16	2871376	2871376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccccagggtgactcaGgtggacccttggcctgtaac	6	9	12	14	0	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:2871376G>T	ENST00000005995.3	+	6	757	c.715G>T	c.(715-717)Ggt>Tgt	p.G239C	PRSS21_ENST00000450020.3_Missense_Mutation_p.G225C|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000455114.1_Missense_Mutation_p.G237C			Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GGGTGACTCAGGTGGACCCTT	0.637																																																	0													49	54	52					16																	2871376		2198	4300	6498	SO:0001583	missense	0			AF058300	CCDS10478.1, CCDS45388.1	16p13.3	2010-05-07			ENSG00000007038	ENSG00000007038		"Serine peptidases / Serine peptidases"	9485	protein-coding gene	gene with protein product		608159				10397266, 9826525	Standard	NM_006799		Approved	ESP-1, TEST1, TESTISIN	uc002crt.4	Q9Y6M0	OTTHUMG00000128931	ENST00000005995.3:c.715G>T	16.37:g.2871376G>T	ENSP00000005995:p.Gly239Cys		Q9NS34|Q9P2V6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G239C	ENST00000005995.3	37	c.715	CCDS10478.1	16	.	.	.	.	.	.	.	.	.	.	g	21.3	4.133927	0.77662	.	.	ENSG00000007038	ENST00000455114;ENST00000450020;ENST00000005995	D;D;D	0.99871	-7.35;-7.35;-7.35	3.8	2.84	0.33178	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.99914	0.9959	H	0.99697	4.71	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96880	0.9645	9	0.87932	D	0	.	9.1535	0.36978	0.1102:0.0:0.8898:0.0	.	239;237;225	Q9Y6M0;Q9Y6M0-2;Q9Y6M0-3	TEST_HUMAN;.;.	C	237;225;239	ENSP00000400632:G237C;ENSP00000407741:G225C;ENSP00000005995:G239C	ENSP00000005995:G239C	G	+	1	0	PRSS21	2811377	1.000000	0.71417	0.486000	0.27416	0.767000	0.43475	6.563000	0.73964	0.821000	0.34540	0.441000	0.28932	GGT	PRSS21	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	ENSG00000007038		0.637	PRSS21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS21	HGNC	protein_coding	OTTHUMT00000250910.1	-	0	103	0	G	NM_006799		2871376	1	tier1	-	no_errors	ENST00000005995	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.983	T	T	2871376	G	T	2871376	3	4	81	1	0	0	0	0	1	0	0	0	12660	1000	35	3	737	3	PRSS21	16	2871376	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	731376	2871376	87483377	220	21487											
SEC14L5	9717	genome.wustl.edu	37	chr16	5038251	5038251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagaccttcgccaaccgCgtggtggtgaacgagcactg	10	7	13	11	4	0	2	0	2	0	1	1	4	0	2	3	2	3	1	3	2	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:5038251C>T	ENST00000251170.7	+	4	495	c.315C>T	c.(313-315)cgC>cgT	p.R105R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	105	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TCGCCAACCGCGTGGTGGTGA	0.637																																																	0													45	49	48					16																	5038251		2175	4273	6448	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.315C>T	16.37:g.5038251C>T				Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.R105	ENST00000251170.7	37	c.315	CCDS45403.1	16																																																																																			SEC14L5	-	pfam_PRELI/MSF1,pfscan_PRELI/MSF1	ENSG00000103184		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	-	0	48	0	C			5038251	1	tier1	-	no_errors	ENST00000251170	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.148	T	T	5038251	C	T	5038251	2	4	81	1	0	0	0	0	0	0	0	1	14030	755	27	1		1	SEC14L5	16	5038251	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2166875	5038251	85316502	221	21488											
MKL2	57496	genome.wustl.edu	37	chr16	14311020	14311020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcaggctactcagatGaagttgaaaagagctcgact	12	9	10	10	1	1	4	1	2	0	2	3	5	2	4	1	1	3	4	1	1	4	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:14311020G>T	ENST00000341243.5	+	5	357	c.357G>T	c.(355-357)atG>atT	p.M119I	MKL2_ENST00000318282.5_Missense_Mutation_p.M130I|MKL2_ENST00000572567.1_Missense_Mutation_p.M119I|MKL2_ENST00000574045.1_Missense_Mutation_p.M130I|MKL2_ENST00000573051.1_Missense_Mutation_p.M79I|MKL2_ENST00000571589.1_Missense_Mutation_p.M130I			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	119					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTACTCAGATGAAGTTGAAAA	0.393																																																	0													97	103	101					16																	14311020		2197	4300	6497	SO:0001583	missense	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.357G>T	16.37:g.14311020G>T	ENSP00000345841:p.Met119Ile		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.M119I	ENST00000341243.5	37	c.357		16	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846081	0.71603	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99836	-7.05;-7.05	5.75	5.75	0.90469	.	0.037553	0.85682	D	0.000000	D	0.99588	0.9851	L	0.35414	1.06	0.58432	D	0.999996	P;P;P;D	0.55172	0.458;0.702;0.861;0.97	B;B;B;D	0.68943	0.137;0.182;0.391;0.961	D	0.98370	1.0553	10	0.37606	T	0.19	-25.9574	19.2924	0.94105	0.0:0.0:1.0:0.0	.	79;130;119;130	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	I	130;119;119	ENSP00000339086:M130I;ENSP00000345841:M119I	ENSP00000339086:M130I	M	+	3	0	MKL2	14218521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.878000	0.98634	0.650000	0.86243	ATG	MKL2	-	NULL	ENSG00000186260		0.393	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding			0	48	0	G	NM_014048		14311020	1			no_errors	ENST00000341243	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	14311020	G	T	14311020	3	4	81	1	0	0	0	0	1	0	0	0	9640	1290	45	3	408	3	MKL2	16	14311020	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	9272769	14311020	76043733	222	21489											
GDE1	51573	genome.wustl.edu	37	chr16	19522217	19522217	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttatggtttaggcactCtgcaacagcttcccttaggg	8	12	12	9	0	1	0	0	0	1	0	2	1	2	0	1	4	3	5	1	4	4	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:19522217C>A	ENST00000353258.3	-	3	667	c.487G>T	c.(487-489)Gag>Tag	p.E163*		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	163	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						TTTAGGCACTCTGCAACAGCT	0.378																																																	0													200	190	193					16																	19522217		2197	4300	6497	SO:0001587	stop_gained	0				CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"membrane interacting protein of RGS16"	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.487G>T	16.37:g.19522217C>A	ENSP00000261386:p.Glu163*		O43334|Q6PKF7|Q7KYR4	Nonsense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.E163*	ENST00000353258.3	37	c.487	CCDS10578.1	16	.	.	.	.	.	.	.	.	.	.	C	39	7.800954	0.98498	.	.	ENSG00000006007	ENST00000353258	.	.	.	5.99	5.99	0.97316	.	0.045455	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-21.9757	20.4574	0.99148	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000261386:E163X	E	-	1	0	GDE1	19429718	1.000000	0.71417	0.984000	0.44739	0.824000	0.46624	6.958000	0.76025	2.843000	0.97960	0.591000	0.81541	GAG	GDE1	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000006007		0.378	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDE1	HGNC	protein_coding	OTTHUMT00000254274.2		0	67	0	C	NM_016641		19522217	-1			no_errors	ENST00000353258	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	A	A	19522217	C	A	19522217	4	1	81	1	0	0	0	0	0	1	0	0	6335	922	32	3	524	3	GDE1	16	19522217	Nonsense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5211197	19522217	70832536	223	21490											
ANKS4B	257629	genome.wustl.edu	37	chr16	21261759	21261759	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagacatctcagatagcaAgagagagtttggttttaaac	15	11	10	5	0	1	5	1	1	1	4	2	6	1	5	0	1	2	3	0	1	5	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:21261759A>T	ENST00000311620.5	+	2	945	c.872A>T	c.(871-873)aAg>aTg	p.K291M		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	291					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		TCAGATAGCAAGAGAGAGTTT	0.463																																																	0													93	97	96					16																	21261759		1993	4174	6167	SO:0001583	missense	0			AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.872A>T	16.37:g.21261759A>T	ENSP00000308772:p.Lys291Met			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K291M	ENST00000311620.5	37	c.872	CCDS42130.1	16	.	.	.	.	.	.	.	.	.	.	A	6.740	0.505262	0.12822	.	.	ENSG00000175311	ENST00000311620	T	0.42900	0.96	5.77	3.41	0.39046	.	0.371935	0.30260	N	0.010023	T	0.40743	0.1129	M	0.65975	2.015	0.38732	D	0.953688	B	0.32425	0.371	B	0.39185	0.293	T	0.43245	-0.9403	10	0.52906	T	0.07	-21.4017	3.8054	0.08774	0.5694:0.1813:0.2493:0.0	.	291	Q8N8V4	ANS4B_HUMAN	M	291	ENSP00000308772:K291M	ENSP00000308772:K291M	K	+	2	0	ANKS4B	21169260	1.000000	0.71417	0.954000	0.39281	0.097000	0.18754	3.090000	0.50191	1.015000	0.39444	0.482000	0.46254	AAG	ANKS4B	-	NULL	ENSG00000175311		0.463	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS4B	HGNC	protein_coding	OTTHUMT00000436535.1		0	49	0	A	NM_145865		21261759	1			no_errors	ENST00000311620	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.525	T	T	21261759	A	T	21261759	3	4	81	1	0	0	0	0	1	0	0	0	691	72	3	5	878	5	ANKS4B	16	21261759	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1739542	21261759	69092994	224	21491											
CES1	1066	genome.wustl.edu	37	chr16	55854390	55854390	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttggccaatggagacaaaAcctgacagcagagtggaggg	13	6	14	8	0	1	3	0	1	1	2	1	5	1	4	2	4	2	1	2	4	3	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:55854390A>C	ENST00000361503.4	-	6	822	c.692T>G	c.(691-693)gTt>gGt	p.V231G	CES1_ENST00000360526.3_Splice_Site_p.V232G|CES1_ENST00000422046.2_Splice_Site_p.V231G|CES1_ENST00000566555.1_5'Flank			P23141	EST1_HUMAN	carboxylesterase 1	231					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TGGAGACAAAACCTGACAGCA	0.522																																					NSCLC(162;1801 2756 42904 52896)												0													14	15	15					16																	55854390		2196	4294	6490	SO:0001630	splice_region_variant	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.691-1T>G	16.37:g.55854390A>C			A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V232G	ENST00000361503.4	37	c.695	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	13.58	2.278830	0.40294	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.69435	-0.4;-0.4;-0.4	3.93	3.93	0.45458	Carboxylesterase, type B (1);	0.275502	0.25610	N	0.029498	D	0.82953	0.5149	M	0.91090	3.175	0.29682	N	0.841635	D;D;D	0.67145	0.996;0.996;0.995	D;D;D	0.68765	0.96;0.96;0.933	T	0.80937	-0.1159	10	0.87932	D	0	.	10.794	0.46449	1.0:0.0:0.0:0.0	.	231;231;232	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	G	232;231;231;96	ENSP00000353720:V232G;ENSP00000355193:V231G;ENSP00000390492:V231G	ENSP00000353720:V232G	V	-	2	0	CES1	54411891	0.557000	0.26546	0.137000	0.22149	0.006000	0.05464	3.375000	0.52410	1.439000	0.47511	0.374000	0.22700	GTT	CES1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000198848		0.522	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0	113	0	A	NM_001266	Missense_Mutation	55854390	-1	tier1	-	no_errors	ENST00000360526	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.200	C	C	55854390	A	C	55854390	5	2	81	1	0	0	0	0	0	0	1	0	3276	57	2	4	1047	4	CES1	16	55854390	Splice_Site	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	34592631	55854390	34500363	225	21492											
OGFOD1	55239	genome.wustl.edu	37	chr16	56485558	56485558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcggagcccggcccaGcccgggtgggaaaaaaggga	10	1	18	12	3	0	0	0	0	0	0	0	3	0	3	4	6	3	0	4	6	3	0	rs200222995		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:56485558G>A	ENST00000566157.1	+	1	157	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	OGFOD1_ENST00000568397.1_Missense_Mutation_p.A12T|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	12					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	GCCCGGCCCAGCCCGGGTGGG	0.587													G|||	1	0.000199681	0	0	5008	,	,		15667	0		0.001	False		,,,				2504	0																0													70	85	80					16																	56485558		2198	4300	6498	SO:0001583	missense	0			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.34G>A	16.37:g.56485558G>A	ENSP00000457258:p.Ala12Thr		H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.A12T	ENST00000566157.1	37	c.34	CCDS10761.2	16	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.96	2.093506	0.36952	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.8	4.85	0.62838	.	0.997630	0.08122	N	0.994618	T	0.31295	0.0792	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21211	-1.0252	9	0.11794	T	0.64	-11.0737	11.8509	0.52412	0.0815:0.0:0.9185:0.0	.	12	Q8N543	OGFD1_HUMAN	T	12	.	ENSP00000337196:A12T	A	+	1	0	OGFOD1	55043059	0.011000	0.17503	0.002000	0.10522	0.287000	0.27160	1.827000	0.39102	1.463000	0.47967	0.563000	0.77884	GCC	OGFOD1	-	NULL	ENSG00000087263		0.587	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3		0	70	0	G	NM_018233		56485558	1			no_errors	ENST00000566157	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.014	A	A	56485558	G	A	56485558	3	1	81	1	0	0	0	0	1	0	0	0	10880	971	34	3	36	3	OGFOD1	16	56485558	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	631168	56485558	33869195	226	21493											
CENPN	55839	genome.wustl.edu	37	chr16	81058368	81058368	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacaggaaagaagccttGgactagatataaatagtacg	16	9	9	7	1	1	2	0	0	1	2	1	4	1	4	1	2	3	1	1	2	9	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr16:81058368G>T	ENST00000305850.5	+	8	1472	c.682G>T	c.(682-684)Gga>Tga	p.G228*	RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000439957.3_Nonsense_Mutation_p.G208*|RP11-303E16.3_ENST00000566390.1_RNA|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000428963.2_Nonsense_Mutation_p.G194*|CENPN_ENST00000393335.3_Nonsense_Mutation_p.G228*	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	228					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						AAGAAGCCTTGGACTAGATAT	0.333																																																	0													81	77	79					16																	81058368		1815	4076	5891	SO:0001587	stop_gained	0			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"chromosome 16 open reading frame 60"	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.682G>T	16.37:g.81058368G>T	ENSP00000305608:p.Gly228*		A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Nonsense_Mutation	SNP	pfam_Chl4/mis15/CENP-N	p.G228*	ENST00000305850.5	37	c.682	CCDS42200.1	16	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896037	0.52121	.	.	ENSG00000166451	ENST00000305850;ENST00000439957;ENST00000393335;ENST00000428963	.	.	.	5.46	3.45	0.39498	.	0.855108	0.10532	N	0.663722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-2.0256	11.2096	0.48790	0.0:0.0:0.629:0.371	.	.	.	.	X	228;208;228;194	.	ENSP00000305608:G228X	G	+	1	0	CENPN	79615869	0.897000	0.30589	0.210000	0.23637	0.078000	0.17371	1.719000	0.38011	0.703000	0.31848	0.655000	0.94253	GGA	CENPN	-	pfam_Chl4/mis15/CENP-N	ENSG00000166451		0.333	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CENPN	HGNC	protein_coding	OTTHUMT00000269051.1	-	0	88	0	G	NM_018455		81058368	1	tier1	-	no_errors	ENST00000393335	ensembl	human	putative	74_37	nonsense	10.00	36	4	SNP	0.526	T	T	81058368	G	T	81058368	4	4	81	1	0	0	0	0	0	1	0	0	3245	1349	47	3	796	3	CENPN	16	81058368	Nonsense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	24572810	81058368	9296385	227	21494											
MPDU1	9526	genome.wustl.edu	37	chr17	7489092	7489092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcaaaggcctggggctggGcattgtggctggctcacttc	6	9	15	11	0	1	0	1	0	0	0	2	0	1	0	1	6	1	5	1	6	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:7489092G>A	ENST00000250124.6	+	2	362	c.146G>A	c.(145-147)gGc>gAc	p.G49D	AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000423172.2_Missense_Mutation_p.G49D|AC113189.5_ENST00000572046.1_RNA|MPDU1_ENST00000396501.4_Missense_Mutation_p.G49D|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	49	PQ-loop 1.				dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|oligosaccharide biosynthetic process (GO:0009312)|protein folding (GO:0006457)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						CTGGGGCTGGGCATTGTGGCT	0.542																																																	0													129	130	130					17																	7489092		2203	4300	6503	SO:0001583	missense	0			AF038961	CCDS11115.1	17p13.1-p12	2008-07-03			ENSG00000129255	ENSG00000129255			7207	protein-coding gene	gene with protein product		604041				8663248, 9653160, 11733564	Standard	NM_004870		Approved	SL15, Lec35, PQLC5, CDGIf	uc002ghw.3	O75352	OTTHUMG00000108147	ENST00000250124.6:c.146G>A	17.37:g.7489092G>A	ENSP00000250124:p.Gly49Asp		B3KQP1|B4DT74|Q9BUU8	Missense_Mutation	SNP	smart_CTNS,pirsf_MannP-dilichol_defect-1	p.G49D	ENST00000250124.6	37	c.146	CCDS11115.1	17	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486573	0.44249	.	.	ENSG00000129255	ENST00000250124;ENST00000396501;ENST00000301597;ENST00000423172;ENST00000359822	D;D;D;D	0.98192	-4.78;-4.78;-4.78;-1.55	5.87	3.86	0.44501	.	0.148244	0.64402	N	0.000011	D	0.98560	0.9519	M	0.87827	2.91	0.53005	D	0.999965	B;D;P	0.60575	0.175;0.988;0.911	B;P;P	0.61658	0.159;0.892;0.853	D	0.98452	1.0592	10	0.87932	D	0	-9.0483	8.1075	0.30894	0.084:0.1586:0.7574:0.0	.	49;49;49	B4DT74;B4DLH7;O75352	.;.;MPU1_HUMAN	D	49	ENSP00000250124:G49D;ENSP00000379758:G49D;ENSP00000414071:G49D;ENSP00000352876:G49D	ENSP00000250124:G49D	G	+	2	0	MPDU1	7429816	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.199000	0.42715	0.809000	0.34255	0.511000	0.50034	GGC	MPDU1	-	pirsf_MannP-dilichol_defect-1	ENSG00000129255		0.542	MPDU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPDU1	HGNC	protein_coding	OTTHUMT00000226950.4		0	102	0	G			7489092	1			no_errors	ENST00000250124	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	A	A	7489092	G	A	7489092	3	1	81	1	0	0	0	0	1	0	0	0	9759	1203	42	3	152	3	MPDU1	17	7489092	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		7489092	73706118	228	21495											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	44	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	T	T	7578406	C	T	7578406	3	4	81	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	89314	7578406	73616804	229	21496											
CHD3	1107	genome.wustl.edu	37	chr17	7796665	7796665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgatgaccatccttgggGccaaatggagagagttcagt	12	9	13	7	0	1	4	1	2	0	2	2	6	2	5	3	3	0	1	3	3	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:7796665G>C	ENST00000330494.7	+	5	721	c.571G>C	c.(571-573)Gcc>Ccc	p.A191P	CHD3_ENST00000358181.4_Missense_Mutation_p.A191P|CHD3_ENST00000380358.4_Missense_Mutation_p.A250P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	191					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCCTTGGGGCCAAATGGAG	0.527																																																	0													54	49	51					17																	7796665		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.571G>C	17.37:g.7796665G>C	ENSP00000332628:p.Ala191Pro		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A191P	ENST00000330494.7	37	c.571	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.02|17.02	3.282326|3.282326	0.59867|0.59867	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|D	0.94000|0.95001	-3.33;-3.33;-3.33|-3.58	4.65|4.65	4.65|4.65	0.58169|0.58169	High mobility group, HMG1/HMG2 (1);CHD, N-terminal (1);|.	0.000000|.	0.46145|.	D|.	0.000318|.	D|D	0.95698|0.95698	0.8601|0.8601	M|M	0.80422|0.80422	2.495|2.495	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.69078|.	0.99;0.992;0.997|.	P;D;D|.	0.67548|.	0.885;0.93;0.952|.	D|D	0.94273|0.94273	0.7512|0.7512	10|7	0.87932|0.08179	D|T	0|0.78	-15.5989|-15.5989	17.7258|17.7258	0.88365|0.88365	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	191;191;250|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	P|A	250;191;191|65	ENSP00000369716:A250P;ENSP00000350907:A191P;ENSP00000332628:A191P|ENSP00000405861:G65A	ENSP00000332628:A191P|ENSP00000405861:G65A	A|G	+|+	1|2	0|0	CHD3|CHD3	7737390|7737390	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.251000|9.251000	0.95483|0.95483	2.411000|2.411000	0.81874|0.81874	0.561000|0.561000	0.74099|0.74099	GCC|GGC	CHD3	-	pfam_CHD_N,superfamily_HMG_box_dom	ENSG00000170004		0.527	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0	85	0	G	NM_001005273		7796665	1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	C	C	7796665	G	C	7796665	3	2	81	1	0	0	0	0	1	0	0	0	3333	1203	42	5	870	5	CHD3	17	7796665	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	218259	7796665	73398545	230	21497											
MYH3	4621	genome.wustl.edu	37	chr17	10533220	10533220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttatccaccagatccTgcaatctcagcacattcttc	10	12	5	14	0	2	1	1	0	2	1	6	1	4	1	3	0	2	4	3	0	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:10533220T>C	ENST00000583535.1	-	39	5684	c.5597A>G	c.(5596-5598)cAg>cGg	p.Q1866R	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1866R	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1866					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACCAGATCCTGCAATCTCAG	0.532																																																	0													136	124	128					17																	10533220		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5597A>G	17.37:g.10533220T>C	ENSP00000464317:p.Gln1866Arg		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1866R	ENST00000583535.1	37	c.5597	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942758	0.92526	.	.	ENSG00000109063	ENST00000226209	T	0.80480	-1.38	4.96	4.96	0.65561	Myosin tail (1);	.	.	.	.	D	0.90947	0.7154	M	0.92412	3.305	0.44439	D	0.997362	D	0.58970	0.984	P	0.62298	0.9	D	0.93181	0.6574	9	0.87932	D	0	.	15.098	0.72250	0.0:0.0:0.0:1.0	.	1866	P11055	MYH3_HUMAN	R	1866	ENSP00000226209:Q1866R	ENSP00000226209:Q1866R	Q	-	2	0	MYH3	10473945	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.868000	0.87116	2.218000	0.71995	0.533000	0.62120	CAG	MYH3	-	pfam_Myosin_tail	ENSG00000109063		0.532	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	55	0	T	NM_002470		10533220	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	C	C	10533220	T	C	10533220	3	2	81	1	0	0	0	0	1	0	0	0	10074	1580	55	4	237	4	MYH3	17	10533220	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	2736555	10533220	70661990	231	21498											
MYH3	4621	genome.wustl.edu	37	chr17	10555795	10555795	+	Frame_Shift_Del	DEL	A	A	-																															acagcacggctggctcattcAggtgcgtcagcatggccatg																										TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:10555795delA	ENST00000583535.1	-	4	377	c.290delT	c.(289-291)ctgfs	p.L97fs	MYH3_ENST00000226209.7_Frame_Shift_Del_p.L97fs	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	97	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGGCTCATTCAGGTGCGTCAG	0.532																																																	0													158	132	141					17																	10555795		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.290delT	17.37:g.10555795delA	ENSP00000464317:p.Leu97fs		Q15492	Frame_Shift_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L97fs	ENST00000583535.1	37	c.290	CCDS11157.1	17																																																																																			MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109063		0.532	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2		0	73	0	A	NM_002470		10555795	-1	tier1		no_errors	ENST00000226209	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-	-	10555795	A	-	10555795	7	5	81	1	0	1	0	1	0	0	0	0	10074	188	7	0	5684	0	MYH3	17	10555795	Frame_Shift_Del	DEL	A	TCGA-L5-A8NG-01A-11D-A37C-09	22575	10555795	70639415	232	21499											
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13504307	13504307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggggccggacagggtcTggcagcgctcggccaggcag	6	3	19	13	5	1	0	0	0	1	0	2	2	1	1	2	7	1	3	2	7	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:13504307T>C	ENST00000284110.1	-	1	937	c.140A>G	c.(139-141)cAg>cGg	p.Q47R		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	47					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGACAGGGTCTGGCAGCGCTC	0.721																																																	0													22	19	20					17																	13504307		2170	4275	6445	SO:0001583	missense	0			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.140A>G	17.37:g.13504307T>C	ENSP00000284110:p.Gln47Arg		A8K7N2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Q47R	ENST00000284110.1	37	c.140	CCDS11165.1	17	.	.	.	.	.	.	.	.	.	.	T	11.64	1.697837	0.30142	.	.	ENSG00000153976	ENST00000284110	T	0.40756	1.02	3.03	1.9	0.25705	.	.	.	.	.	T	0.22666	0.0547	N	0.24115	0.695	0.80722	D	1	B	0.14012	0.009	B	0.10450	0.005	T	0.05517	-1.0880	9	0.16896	T	0.51	.	4.759	0.13099	0.1793:0.0:0.1996:0.6211	.	47	Q9Y663	HS3SA_HUMAN	R	47	ENSP00000284110:Q47R	ENSP00000284110:Q47R	Q	-	2	0	HS3ST3A1	13445032	0.003000	0.15002	0.974000	0.42286	0.983000	0.72400	-0.588000	0.05774	0.525000	0.28522	0.533000	0.62120	CAG	HS3ST3A1	-	NULL	ENSG00000153976		0.721	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1		0	77	0	T	NM_006042		13504307	-1			no_errors	ENST00000284110	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.970	C	C	13504307	T	C	13504307	3	2	81	1	0	0	0	0	1	0	0	0	7392	1580	55	4	1088	4	HS3ST3A1	17	13504307	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	2948512	13504307	67690903	233	21500											
MYO15A	51168	genome.wustl.edu	37	chr17	18022798	18022798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgtacgggcttgagggCttccaggacctgggcgagta	6	9	16	10	3	0	1	0	1	0	0	2	3	1	2	2	4	1	5	2	4	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:18022798C>T	ENST00000205890.5	+	2	1022	c.684C>T	c.(682-684)ggC>ggT	p.G228G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	228					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCTTGAGGGCTTCCAGGACC	0.637																																																	0													40	44	43					17																	18022798		2082	4208	6290	SO:0001819	synonymous_variant	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.684C>T	17.37:g.18022798C>T			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.G228	ENST00000205890.5	37	c.684	CCDS42271.1	17																																																																																			MYO15A	-	NULL	ENSG00000091536		0.637	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1		0	11	0	C	NM_016239		18022798	1			no_errors	ENST00000205890	ensembl	human	known	74_37	silent	33.33	6	3	SNP	1.000	T	T	18022798	C	T	18022798	2	4	81	1	0	0	0	0	0	0	0	1	10101	784	28	3		3	MYO15A	17	18022798	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	4518491	18022798	63172412	234	21501											
TOP3A	7156	genome.wustl.edu	37	chr17	18181536	18181536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaggcggccagagggctgGctagccctgggggggccccc	4	4	19	14	1	0	1	0	0	0	1	0	1	0	1	4	7	2	3	4	7	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:18181536G>A	ENST00000321105.5	-	18	2494	c.2280C>T	c.(2278-2280)agC>agT	p.S760S	TOP3A_ENST00000540524.1_Silent_p.S290S|TOP3A_ENST00000542570.1_Silent_p.S665S	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	760					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CAGAGGGCTGGCTAGCCCTGG	0.627																																																	0													37	45	42					17																	18181536		2203	4300	6503	SO:0001819	synonymous_variant	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 7"	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2280C>T	17.37:g.18181536G>A			A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.S760	ENST00000321105.5	37	c.2280	CCDS11194.1	17																																																																																			TOP3A	-	NULL	ENSG00000177302		0.627	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2		0	77	0	G			18181536	-1			no_errors	ENST00000321105	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.989	A	A	18181536	G	A	18181536	2	1	81	1	0	0	0	0	0	0	0	1	16415	1194	42	3		3	TOP3A	17	18181536	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	158738	18181536	63013674	235	21502											
KCNJ12	3768	genome.wustl.edu	37	chr17	21319751	21319751	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggatctggtagagaacaAgttcctgctgcccagcgcca	11	7	12	11	1	1	1	0	0	1	1	2	4	2	2	3	2	4	3	3	2	4	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:21319751A>C	ENST00000583088.1	+	3	1992	c.1097A>C	c.(1096-1098)aAg>aCg	p.K366T	KCNJ12_ENST00000331718.5_Missense_Mutation_p.K366T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	366					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTAGAGAACAAGTTCCTGCTG	0.587										Prostate(3;0.18)																																							0													100	93	95					17																	21319751		2203	4300	6503	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1097A>C	17.37:g.21319751A>C	ENSP00000463778:p.Lys366Thr		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.K366T	ENST00000583088.1	37	c.1097	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456347	0.43634	.	.	ENSG00000184185	ENST00000331718	D	0.94576	-3.46	5.65	5.65	0.86999	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.097289	0.64402	D	0.000002	D	0.92545	0.7632	L	0.50333	1.59	0.80722	D	1	B	0.19445	0.036	B	0.20577	0.03	D	0.89791	0.3968	10	0.56958	D	0.05	.	15.8643	0.79052	1.0:0.0:0.0:0.0	.	366	Q14500	IRK12_HUMAN	T	366	ENSP00000328150:K366T	ENSP00000328150:K366T	K	+	2	0	KCNJ12	21260344	1.000000	0.71417	1.000000	0.80357	0.531000	0.34715	9.170000	0.94795	2.154000	0.67381	0.523000	0.50628	AAG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	ENSG00000184185		0.587	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	113	0	A	NM_021012		21319751	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	C	C	21319751	A	C	21319751	3	2	81	1	0	0	0	0	1	0	0	0	8073	72	3	4	1099	4	KCNJ12	17	21319751	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	3138215	21319751	59875459	236	21503											
FOXN1	8456	genome.wustl.edu	37	chr17	26851857	26851857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcctttaagaccccagggCcgctggaggccttcgaggag	8	7	13	13	2	0	1	0	0	0	1	2	4	1	3	5	4	0	1	5	4	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:26851857C>T	ENST00000226247.2	+	2	489	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	FOXN1_ENST00000579795.1_Missense_Mutation_p.P154S	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	154					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GACCCCAGGGCCGCTGGAGGC	0.657																																																	0													34	38	37					17																	26851857		2203	4300	6503	SO:0001583	missense	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"Forkhead boxes"	12765	protein-coding gene	gene with protein product		600838	"winged-helix nude", "Rowett nude"	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.460C>T	17.37:g.26851857C>T	ENSP00000226247:p.Pro154Ser		B2R9Q7|O15352	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P154S	ENST00000226247.2	37	c.460	CCDS11232.1	17	.	.	.	.	.	.	.	.	.	.	C	2.987	-0.208945	0.06140	.	.	ENSG00000109101	ENST00000226247	D	0.91351	-2.83	5.58	-5.01	0.02991	.	1.431730	0.04052	N	0.304965	T	0.71762	0.3378	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63739	-0.6569	10	0.15952	T	0.53	.	0.9095	0.01291	0.2043:0.3088:0.2078:0.2791	.	154	O15353	FOXN1_HUMAN	S	154	ENSP00000226247:P154S	ENSP00000226247:P154S	P	+	1	0	FOXN1	23875984	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-0.814000	0.04486	-0.636000	0.05524	-0.321000	0.08615	CCG	FOXN1	-	NULL	ENSG00000109101		0.657	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1		0	88	0	C			26851857	1			no_errors	ENST00000226247	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.000	T	T	26851857	C	T	26851857	3	4	81	1	0	0	0	0	1	0	0	0	6043	739	26	3	466	3	FOXN1	17	26851857	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5532106	26851857	54343353	237	21504											
SUPT6H	6830	genome.wustl.edu	37	chr17	27027397	27027397	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaatgccctgcctcagaAcatgacttcacagatgttca	11	11	8	11	0	3	4	3	2	0	2	3	4	3	4	2	0	3	1	2	0	2	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:27027397A>C	ENST00000314616.6	+	35	4956	c.4673A>C	c.(4672-4674)aAc>aCc	p.N1558T	SUPT6H_ENST00000347486.4_Missense_Mutation_p.N1558T	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1558					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTGCCTCAGAACATGACTTCA	0.562																																																	0													139	124	129					17																	27027397		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4673A>C	17.37:g.27027397A>C	ENSP00000319104:p.Asn1558Thr		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.N1558T	ENST00000314616.6	37	c.4673	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542165	0.45280	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.59436	1.845	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53913	-0.8371	9	0.33141	T	0.24	-22.5418	11.5038	0.50454	0.85:0.15:0.0:0.0	.	1558	Q7KZ85	SPT6H_HUMAN	T	1558	.	ENSP00000319104:N1558T	N	+	2	0	SUPT6H	24051524	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.627000	0.90974	1.916000	0.55485	0.528000	0.53228	AAC	SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.562	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	58	0	A	NM_003170		27027397	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	C	C	27027397	A	C	27027397	3	2	81	1	0	0	0	0	1	0	0	0	15447	43	2	4	4807	4	SUPT6H	17	27027397	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	175540	27027397	54167813	238	21505											
CACNB1	782	genome.wustl.edu	37	chr17	37331544	37331544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagcgggccttattccGgccccggttccggttgtcgg	3	10	15	13	5	0	0	0	0	0	0	3	0	2	0	5	5	1	4	5	5	2	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:37331544G>A	ENST00000394303.3	-	14	1906	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	567					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCTTATTCCGGCCCCGGTTC	0.642											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)												0													131	146	142					17																	37331544		1895	4096	5991	SO:0001583	missense	0				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1699C>T	17.37:g.37331544G>A	ENSP00000377840:p.Arg567Trp	869	A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.R567W	ENST00000394303.3	37	c.1699	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027409	0.75390	.	.	ENSG00000067191	ENST00000539338;ENST00000394303	T	0.79554	-1.28	5.14	5.14	0.70334	.	0.067266	0.64402	D	0.000013	T	0.74076	0.3669	L	0.40543	1.245	0.80722	D	1	P	0.51537	0.946	B	0.43478	0.421	T	0.73600	-0.3931	10	0.34782	T	0.22	-17.9546	13.1174	0.59307	0.0:0.0:0.8391:0.1608	.	567	Q02641	CACB1_HUMAN	W	517;567	ENSP00000377840:R567W	ENSP00000377840:R567W	R	-	1	2	CACNB1	34585070	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.150000	0.58098	2.686000	0.91538	0.561000	0.74099	CGG	CACNB1	-	NULL	ENSG00000067191		0.642	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3		0	44	0	G			37331544	-1			no_errors	ENST00000394303	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A	A	37331544	G	A	37331544	3	1	81	1	0	0	0	0	1	0	0	0	2559	1115	39	1	101	1	CACNB1	17	37331544	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	10304147	37331544	43863666	239	21506											
THRA	7067	genome.wustl.edu	37	chr17	38241009	38241009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgatccacattgccacaGaggcccatcgcagcaccaat	12	7	7	15	1	1	2	0	1	1	1	3	2	2	2	4	1	2	2	4	1	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:38241009G>A	ENST00000264637.4	+	6	1097	c.517G>A	c.(517-519)Gag>Aag	p.E173K	THRA_ENST00000450525.2_Missense_Mutation_p.E173K|THRA_ENST00000394121.4_Missense_Mutation_p.E173K|THRA_ENST00000584985.1_Missense_Mutation_p.E173K|THRA_ENST00000546243.1_Missense_Mutation_p.E173K	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	173					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CATTGCCACAGAGGCCCATCG	0.607																																																	0													83	82	83					17																	38241009		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.517G>A	17.37:g.38241009G>A	ENSP00000264637:p.Glu173Lys		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E173K	ENST00000264637.4	37	c.517	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092923	0.56075	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.93488	-3.08;-3.08;-3.23;-3.23	4.48	4.48	0.54585	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.92090	0.7493	M	0.81802	2.56	0.80722	D	1	B;B;B	0.19331	0.022;0.035;0.0	B;B;B	0.16722	0.016;0.012;0.001	D	0.88751	0.3250	10	0.07175	T	0.84	.	16.9662	0.86286	0.0:0.0:1.0:0.0	.	173;173;173	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	K	173	ENSP00000377679:E173K;ENSP00000264637:E173K;ENSP00000395641:E173K;ENSP00000443972:E173K	ENSP00000264637:E173K	E	+	1	0	THRA	35494535	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	9.631000	0.98424	2.310000	0.77875	0.436000	0.28706	GAG	THRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ThyrH_rcpt	ENSG00000126351		0.607	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	-	0	34	0	G			38241009	1	tier1	-	no_errors	ENST00000264637	ensembl	human	known	74_37	missense	29.63	57	24	SNP	1.000	A	A	38241009	G	A	38241009	3	1	81	1	0	0	0	0	1	0	0	0	15920	943	33	3	535	3	THRA	17	38241009	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	909465	38241009	42954201	240	21507											
KRT38	8687	genome.wustl.edu	37	chr17	39597021	39597021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacacggactcggttggcAtgtgccacgttggccaaaag	9	7	12	13	3	0	0	0	0	0	0	1	1	0	1	3	4	1	3	3	4	2	2	rs570504021		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:39597021A>T	ENST00000246646.3	-	1	152	c.153T>A	c.(151-153)caT>caA	p.H51Q		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	51	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CTCGGTTGGCATGTGCCACGT	0.632																																																	0													48	50	49					17																	39597021		2203	4300	6503	SO:0001583	missense	0			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"-", "Intermediate filaments type I, keratins (acidic)"	6456	protein-coding gene	gene with protein product		604542	"keratin, hair, acidic, 8"	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.153T>A	17.37:g.39597021A>T	ENSP00000246646:p.His51Gln		A2RRM5|Q6A164	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.H51Q	ENST00000246646.3	37	c.153	CCDS11392.1	17	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502822	0.26949	.	.	ENSG00000171360	ENST00000246646	T	0.81330	-1.48	4.6	-3.41	0.04839	.	0.129647	0.34750	N	0.003708	T	0.66086	0.2754	L	0.47190	1.495	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.50215	-0.8854	10	0.28530	T	0.3	.	6.772	0.23598	0.4732:0.1308:0.3959:0.0	.	51	O76015	KRT38_HUMAN	Q	51	ENSP00000246646:H51Q	ENSP00000246646:H51Q	H	-	3	2	KRT38	36850547	0.000000	0.05858	0.002000	0.10522	0.031000	0.12232	-3.025000	0.00640	-1.029000	0.03317	-2.209000	0.00301	CAT	KRT38	-	NULL	ENSG00000171360		0.632	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT38	HGNC	protein_coding	OTTHUMT00000257307.2		0	38	0	A	NM_006771		39597021	-1			no_errors	ENST00000246646	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T	T	39597021	A	T	39597021	3	4	81	1	0	0	0	0	1	0	0	0	8502	214	8	5	1245	5	KRT38	17	39597021	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1356012	39597021	41598189	241	21508											
HAP1	9001	genome.wustl.edu	37	chr17	39887793	39887793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgttcctcatcctcaaGagtgtcgagttgagaggcct	8	12	10	11	1	3	2	2	1	1	2	6	4	5	2	3	1	0	2	3	1	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:39887793G>C	ENST00000310778.5	-	6	1030	c.1021C>G	c.(1021-1023)Ctt>Gtt	p.L341V	HAP1_ENST00000393939.2_Missense_Mutation_p.L341V|HAP1_ENST00000347901.4_Missense_Mutation_p.L341V|RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Missense_Mutation_p.L349V			P54257	HAP1_HUMAN	huntingtin-associated protein 1	341	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TCATCCTCAAGAGTGTCGAGT	0.552																																																	0													148	121	130					17																	39887793		2203	4300	6503	SO:0001583	missense	0			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1021C>G	17.37:g.39887793G>C	ENSP00000309392:p.Leu341Val		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.L341V	ENST00000310778.5	37	c.1021		17	.	.	.	.	.	.	.	.	.	.	G	2.830	-0.242927	0.05906	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.18174	2.23;2.23;2.23;2.23	4.14	1.98	0.26296	.	0.299889	0.18373	N	0.143201	T	0.14013	0.0339	L	0.50333	1.59	0.09310	N	1	B;B;B;B	0.28350	0.208;0.208;0.046;0.057	B;B;B;B	0.23574	0.047;0.047;0.019;0.032	T	0.16630	-1.0396	10	0.28530	T	0.3	-11.089	9.0736	0.36508	0.0:0.0:0.6059:0.3941	.	341;349;341;341	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	V	341;341;341;349	ENSP00000377513:L341V;ENSP00000309392:L341V;ENSP00000334002:L341V;ENSP00000343170:L349V	ENSP00000309392:L341V	L	-	1	0	HAP1	37141319	0.957000	0.32711	0.403000	0.26384	0.351000	0.29236	0.933000	0.28897	0.939000	0.37446	-0.169000	0.13324	CTT	HAP1	-	pfam_HAP1_N	ENSG00000173805		0.552	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	-	0	123	0	G	NM_003949		39887793	-1	tier1	-	no_errors	ENST00000310778	ensembl	human	known	74_37	missense	13.15	185	28	SNP	0.047	C	C	39887793	G	C	39887793	3	2	81	1	0	0	0	0	1	0	0	0	6980	942	33	5	862	5	HAP1	17	39887793	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	290772	39887793	41307417	242	21509											
LRRC37A2	474170	genome.wustl.edu	37	chr17	44626071	44626071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggcagagcatcaggaGggaacagggtgcccaggcat	13	3	17	8	0	1	1	1	0	0	1	1	4	1	4	1	6	3	3	1	6	2	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:44626071G>T	ENST00000576629.1	+	10	4061	c.3566G>T	c.(3565-3567)aGg>aTg	p.R1189M	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.R1189M|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1189						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGCATCAGGAGGGAACAGGGT	0.582																																																	0													20	35	30					17																	44626071		1912	4013	5925	SO:0001583	missense	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"c114 SLIT-like testicular protein"						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.3566G>T	17.37:g.44626071G>T	ENSP00000459551:p.Arg1189Met		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R1189M	ENST00000576629.1	37	c.3566	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	g	12.68	2.011889	0.35511	.	.	ENSG00000238083	ENST00000333412	T	0.60797	0.16	3.08	-0.161	0.13371	.	.	.	.	.	T	0.65186	0.2667	L	0.56769	1.78	0.09310	N	1	D;D;D	0.76494	0.99;0.999;0.999	D;D;P	0.69654	0.962;0.965;0.846	T	0.52653	-0.8547	9	0.62326	D	0.03	.	5.088	0.14693	0.4443:0.0:0.5557:0.0	.	1189;150;1189	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	M	1189	ENSP00000333071:R1189M	ENSP00000333071:R1189M	R	+	2	0	LRRC37A2	41981387	0.001000	0.12720	0.000000	0.03702	0.041000	0.13682	-0.068000	0.11561	0.159000	0.19401	0.175000	0.17021	AGG	LRRC37A2	-	NULL	ENSG00000238083		0.582	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	-	0	95	0	G	NM_001006607		44626071	1	tier1	-	no_errors	ENST00000333412	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.000	T	T	44626071	G	T	44626071	3	4	81	1	0	0	0	0	1	0	0	0	9027	1000	35	3	3600	3	LRRC37A2	17	44626071	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	4738278	44626071	36569139	243	21510											
HOXB7	3217	genome.wustl.edu	37	chr17	46685288	46685288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttctcctttttccacttCatgcgccggttctgaaacca	6	16	6	13	2	3	1	1	1	2	0	5	1	4	1	4	1	2	2	4	1	1	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:46685288C>T	ENST00000239165.7	-	2	668	c.570G>A	c.(568-570)atG>atA	p.M190I	HOXB7_ENST00000567101.2_5'UTR|HOXB-AS3_ENST00000491264.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB6_ENST00000484302.2_5'Flank|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000494420.1_RNA|HOXB6_ENST00000225648.3_5'Flank|HOXB-AS3_ENST00000467155.2_RNA	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	190					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						TTTTCCACTTCATGCGCCGGT	0.592																																																	0													110	119	116					17																	46685288		2203	4300	6503	SO:0001583	missense	0				CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	5118	protein-coding gene	gene with protein product		142962	"homeo box B7"	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.570G>A	17.37:g.46685288C>T	ENSP00000239165:p.Met190Ile		A8K3N8|Q15957|Q53FN3|Q96BQ6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.M190I	ENST00000239165.7	37	c.570	CCDS11532.1	17	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864337	0.71949	.	.	ENSG00000120087	ENST00000239165;ENST00000494244	D	0.96136	-3.92	4.72	4.72	0.59763	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94676	0.8283	L	0.58510	1.815	0.80722	D	1	B	0.20887	0.049	B	0.30782	0.12	D	0.93209	0.6598	10	0.87932	D	0	.	17.5097	0.87756	0.0:1.0:0.0:0.0	.	190	P09629	HXB7_HUMAN	I	190;1	ENSP00000239165:M190I	ENSP00000239165:M190I	M	-	3	0	HOXB7	44040287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.643000	0.83403	2.445000	0.82738	0.563000	0.77884	ATG	HOXB7	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000260027		0.592	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB7	HGNC	protein_coding	OTTHUMT00000358097.3		0	78	0	C			46685288	-1			no_errors	ENST00000239165	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	46685288	C	T	46685288	3	4	81	1	0	0	0	0	1	0	0	0	7333	826	29	3	87	3	HOXB7	17	46685288	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2059217	46685288	34509922	244	21511											
CACNA1G	8913	genome.wustl.edu	37	chr17	48695481	48695481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcgtggagctctttggaGacctgggtgagttggggtag	5	11	20	5	1	1	2	0	1	1	1	1	4	1	3	1	6	1	3	1	6	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:48695481G>A	ENST00000359106.5	+	31	5299	c.5299G>A	c.(5299-5301)Gac>Aac	p.D1767N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.D1774N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1756N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.D1767N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.D1733N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.D1726N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.D1749N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.D1715N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.D1722N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.D1742N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.D1733N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.D1749N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.D1756N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1733N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.D1767N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.D1756N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.D1744N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.D1756N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.D1722N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.D1767N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.D1760N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.D1710N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.D1733N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.D1733N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1744N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1767					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCTTTGGAGACCTGGGTGA	0.567																																																	0													56	57	57					17																	48695481		1887	4118	6005	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5299G>A	17.37:g.48695481G>A	ENSP00000352011:p.Asp1767Asn		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.D1767N	ENST00000359106.5	37	c.5299	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	23.8	4.458038	0.84317	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	5.22	5.22	0.72569	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96568	0.8880	N	0.04724	-0.175	0.80722	D	1	B;D;D;D;D;D;D;D;D;D;D;P;P;D;D;P;D;P;D;D;D;P;D;D;D	0.89917	0.256;0.973;0.999;0.999;1.0;0.994;0.999;1.0;0.999;0.974;1.0;0.503;0.941;1.0;0.996;0.745;0.977;0.917;1.0;0.988;0.999;0.745;1.0;0.971;0.99	B;P;D;D;D;D;D;D;D;P;D;B;P;D;D;B;P;P;D;D;D;B;D;P;P	0.97110	0.437;0.908;0.999;0.998;1.0;0.935;0.998;1.0;0.998;0.842;1.0;0.257;0.867;1.0;0.939;0.374;0.852;0.583;1.0;0.911;0.995;0.374;1.0;0.9;0.903	D	0.93108	0.6514	10	0.02654	T	1	.	18.7781	0.91920	0.0:0.0:1.0:0.0	.	1710;1722;1715;1749;1722;1742;1774;1733;1760;1756;1767;1744;1756;1756;1749;1756;1767;1744;1767;1733;1726;1733;1744;1767;1733	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	N	1744;1733;1733;1726;1744;1756;1722;1710;1715;1733;1767;1756;1722;1760;1733;1767;1742;1756;1774;1733;1767;1749;1749;1767;1756	ENSP00000353990:D1744N;ENSP00000339302:D1733N;ENSP00000347078:D1733N;ENSP00000409759:D1726N;ENSP00000425522:D1744N;ENSP00000426261:D1756N;ENSP00000425451:D1722N;ENSP00000422407:D1710N;ENSP00000426814:D1715N;ENSP00000427238:D1733N;ENSP00000423112:D1767N;ENSP00000420918:D1756N;ENSP00000426172:D1722N;ENSP00000423045:D1760N;ENSP00000427173:D1733N;ENSP00000426098:D1767N;ENSP00000425698:D1742N;ENSP00000426232:D1756N;ENSP00000423317:D1774N;ENSP00000350979:D1733N;ENSP00000352011:D1767N;ENSP00000414388:D1749N;ENSP00000423155:D1749N;ENSP00000422268:D1767N;ENSP00000421518:D1756N	ENSP00000339302:D1733N	D	+	1	0	CACNA1G	46050480	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.106000	0.57804	2.434000	0.82447	0.561000	0.74099	GAC	CACNA1G	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000006283		0.567	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0	70	0	G	NM_018896		48695481	1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	50.52	48	49	SNP	1.000	A	A	48695481	G	A	48695481	3	1	81	1	0	0	0	0	1	0	0	0	2551	942	33	3	5688	3	CACNA1G	17	48695481	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2010193	48695481	32499729	245	21512											
MTMR4	9110	genome.wustl.edu	37	chr17	56584115	56584115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaataccttcacattcaCagcctccacccttggcccgg	9	8	6	18	1	2	0	2	0	0	0	3	0	3	0	5	2	3	1	5	2	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:56584115C>T	ENST00000323456.5	-	10	1104	c.980G>A	c.(979-981)tGt>tAt	p.C327Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.C327Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	327	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCACATTCACAGCCTCCACC	0.577																																																	0													71	69	70					17																	56584115		2203	4300	6503	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.980G>A	17.37:g.56584115C>T	ENSP00000325285:p.Cys327Tyr		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.C327Y	ENST00000323456.5	37	c.980	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662525	0.88251	.	.	ENSG00000108389	ENST00000323456	D	0.92348	-3.02	5.39	5.39	0.77823	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91711	0.5381	10	0.31617	T	0.26	.	18.5543	0.91077	0.0:1.0:0.0:0.0	.	327	Q9NYA4	MTMR4_HUMAN	Y	327	ENSP00000325285:C327Y	ENSP00000325285:C327Y	C	-	2	0	MTMR4	53939114	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.445000	0.80570	2.713000	0.92767	0.644000	0.83932	TGT	MTMR4	-	pfam_Myotubularin-like_Pase_dom	ENSG00000108389		0.577	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	-	0	30	0	C	NM_004687		56584115	-1	tier1	-	no_errors	ENST00000323456	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	56584115	C	T	56584115	3	4	81	1	0	0	0	0	1	0	0	0	9984	478	17	3	2647	3	MTMR4	17	56584115	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	7888634	56584115	24611095	246	21513											
GH2	2689	genome.wustl.edu	37	chr17	61958242	61958242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctcctgaggagctgcaCgggctccagccatgactgga	8	6	14	13	2	0	2	0	2	0	0	2	5	2	4	3	3	3	4	3	3	0	0	rs61764019		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:61958242C>T	ENST00000423893.2	-	4	407	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	GH2_ENST00000456543.2_Missense_Mutation_p.V116M|GH2_ENST00000449787.2_Missense_Mutation_p.V101M|GH2_ENST00000332800.7_Missense_Mutation_p.V116M			P01242	SOM2_HUMAN	growth hormone 2	116					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						AGGAGCTGCACGGGCTCCAGC	0.627																																																	0													49	52	51					17																	61958242		2203	4300	6503	SO:0001583	missense	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.346G>A	17.37:g.61958242C>T	ENSP00000409294:p.Val116Met		B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.V116M	ENST00000423893.2	37	c.346	CCDS11647.1	17	.	.	.	.	.	.	.	.	.	.	c	9.168	1.020495	0.19433	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	3.1	-0.298	0.12814	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.616553	0.16270	N	0.221804	D	0.91153	0.7214	M	0.68317	2.08	0.36384	D	0.862099	D;D;D;D;D	0.89917	0.988;1.0;0.995;1.0;0.988	P;D;P;D;P	0.97110	0.806;0.998;0.885;1.0;0.806	D	0.88279	0.2935	10	0.62326	D	0.03	.	4.7442	0.13029	0.0:0.5954:0.1789:0.2257	.	116;101;116;116;116	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	M	116;116;116;101	ENSP00000333157:V116M;ENSP00000394122:V116M;ENSP00000409294:V116M;ENSP00000410618:V101M	ENSP00000333157:V116M	V	-	1	0	GH2	59311974	0.180000	0.23148	0.688000	0.30117	0.004000	0.04260	0.384000	0.20668	-0.123000	0.11745	-0.443000	0.05667	GTG	GH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000136487		0.627	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1		0	93	0	C	NM_002059		61958242	-1			no_errors	ENST00000332800	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.885	T	T	61958242	C	T	61958242	3	4	81	1	0	0	0	0	1	0	0	0	6394	536	19	1	652	1	GH2	17	61958242	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5374127	61958242	19236968	247	21514											
FDXR	2232	genome.wustl.edu	37	chr17	72868242	72868242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcttctcctgtgtggaGaaatggtggcagaagcctgg	7	10	17	7	0	2	2	0	0	2	2	3	3	2	2	2	6	1	1	2	6	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr17:72868242G>T	ENST00000293195.5	-	2	174	c.96C>A	c.(94-96)ttC>ttA	p.F32L	FDXR_ENST00000420580.2_Missense_Mutation_p.F32L|FDXR_ENST00000413947.2_Intron|FDXR_ENST00000581530.1_Missense_Mutation_p.F32L|FDXR_ENST00000582944.1_Missense_Mutation_p.F32L|FDXR_ENST00000583917.1_Missense_Mutation_p.F32L|FDXR_ENST00000442102.2_Missense_Mutation_p.F32L|FDXR_ENST00000455107.2_5'UTR	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	32					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCTGTGTGGAGAAATGGTGGC	0.537																																																	0													42	43	43					17																	72868242		2203	4300	6503	SO:0001583	missense	0			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"adrenodoxin-NADP(+) reductase", "adrenodoxin reductase"	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.96C>A	17.37:g.72868242G>T	ENSP00000293195:p.Phe32Leu		B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.F32L	ENST00000293195.5	37	c.96	CCDS58593.1	17	.	.	.	.	.	.	.	.	.	.	G	2.119	-0.401861	0.04865	.	.	ENSG00000161513	ENST00000420580;ENST00000293195;ENST00000442102	T;T;D	0.81579	3.26;-0.11;-1.51	4.4	3.43	0.39272	.	0.692334	0.14362	N	0.324369	T	0.57489	0.2057	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.0;0.002;0.001;0.0;0.0;0.0;0.002	T	0.38222	-0.9671	10	0.08179	T	0.78	-7.8185	7.0406	0.25019	0.0786:0.1335:0.6638:0.1241	.	32;32;29;32;32;32;32	B4DQQ4;B4DHX5;B4DDI9;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;ADRO_HUMAN;.	L	32	ENSP00000414172:F32L;ENSP00000293195:F32L;ENSP00000416515:F32L	ENSP00000293195:F32L	F	-	3	2	FDXR	70379837	1.000000	0.71417	0.946000	0.38457	0.025000	0.11179	1.778000	0.38614	0.295000	0.22570	-2.281000	0.00270	TTC	FDXR	-	NULL	ENSG00000161513		0.537	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FDXR	HGNC	protein_coding	OTTHUMT00000444449.1	-	0	33	0	G	NM_004110		72868242	-1	tier1	-	no_errors	ENST00000581530	ensembl	human	known	74_37	missense	64.29	5	9	SNP	0.957	T	T	72868242	G	T	72868242	3	4	81	1	0	0	0	0	1	0	0	0	5829	933	33	3	1441	3	FDXR	17	72868242	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	10910000	72868242	8326968	248	21515											
SETBP1	26040	genome.wustl.edu	37	chr18	42643107	42643107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccatccagtgcgaagtgcGgaagatgtgcaactacacca	13	6	11	11	2	0	1	0	0	0	1	1	3	1	2	3	1	6	1	3	1	4	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr18:42643107G>T	ENST00000282030.5	+	6	4531	c.4235G>T	c.(4234-4236)cGg>cTg	p.R1412L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1412						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCGAAGTGCGGAAGATGTGC	0.532									Schinzel-Giedion syndrome																																								0													58	54	55					18																	42643107		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4235G>T	18.37:g.42643107G>T	ENSP00000282030:p.Arg1412Leu		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.R1412L	ENST00000282030.5	37	c.4235	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	32	5.168252	0.94768	.	.	ENSG00000152217	ENST00000282030	D	0.83506	-1.73	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000001	D	0.87509	0.6195	L	0.32530	0.975	0.45452	D	0.998424	D	0.89917	1.0	D	0.85130	0.997	D	0.88801	0.3285	10	0.87932	D	0	.	18.8667	0.92294	0.0:0.0:1.0:0.0	.	1412	Q9Y6X0	SETBP_HUMAN	L	1412	ENSP00000282030:R1412L	ENSP00000282030:R1412L	R	+	2	0	SETBP1	40897105	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.044000	0.93805	2.615000	0.88500	0.563000	0.77884	CGG	SETBP1	-	NULL	ENSG00000152217		0.532	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4		0	46	0	G	NM_001130110		42643107	1			no_errors	ENST00000282030	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	T	T	42643107	G	T	42643107	3	4	81	1	0	0	0	0	1	0	0	0	14174	1116	39	2	4446	2	SETBP1	18	42643107	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		42643107	35434141	249	21516											
TCEB3CL	100506888	genome.wustl.edu	37	chr18	44543396	44543396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggcaggcaggcctggAgcccgagtacaccggcatct	8	5	15	13	2	1	0	0	0	1	0	1	3	1	1	3	5	3	5	3	5	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr18:44543396A>G	ENST00000591973.2	-	1	1211	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001242907.1	NP_001229836.1	A6NLF2	EA3L2_HUMAN	transcription elongation factor B polypeptide 3C-like 2	326	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)										GCAGGCCTGGAGCCCGAGTAC	0.667																																																	0													1	1	1					18																	44543396		95	441	536	SO:0001583	missense	0				CCDS59316.1	18q21.1	2012-10-25			ENSG00000266996	ENSG00000274744			33511	protein-coding gene	gene with protein product							Standard	NM_001242907		Approved		uc021ujk.1	A6NLF2	OTTHUMG00000180382	ENST00000591973.2:c.976T>C	18.37:g.44543396A>G	ENSP00000468046:p.Ser326Pro			Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.S326P	ENST00000591973.2	37	c.976	CCDS59316.1	18																																																																																			TCEB3CL2	-	NULL	ENSG00000266996		0.667	TCEB3CL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL2	HGNC	protein_coding	OTTHUMT00000451070.1	-	0	56	0	A	XM_929328		44543396	-1	tier1	-	no_errors	ENST00000591973	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.007	G	G	44543396	A	G	44543396	3	3	81	1	0	0	0	0	1	0	0	0	15731	304	11	4	666	4	TCEB3CL	18	44543396	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1900289	44543396	33533852	250	21517											
MYO5B	4645	genome.wustl.edu	37	chr18	47518679	47518679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagaccactctggacttCtccaagaggtaagtcctcat	11	10	9	11	0	3	2	1	0	2	2	5	4	4	4	3	3	0	1	3	3	3	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr18:47518679C>T	ENST00000285039.7	-	6	1034	c.735G>A	c.(733-735)gaG>gaA	p.E245E		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	245	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCTGGACTTCTCCAAGAGGT	0.512																																																	0													218	206	210					18																	47518679		1951	4153	6104	SO:0001819	synonymous_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.735G>A	18.37:g.47518679C>T			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E245	ENST00000285039.7	37	c.735	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000167306		0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	-	0	101	0	C			47518679	-1	tier1	-	no_errors	ENST00000285039	ensembl	human	known	74_37	silent	16.07	47	9	SNP	1.000	T	T	47518679	C	T	47518679	2	4	81	1	0	0	0	0	0	0	0	1	10117	912	32	3		3	MYO5B	18	47518679	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2975283	47518679	30558569	251	21518											
DCC	1630	genome.wustl.edu	37	chr18	50936959	50936959	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactttcgaattcaagcaCgaaattcaaaaggagtgggg	15	10	10	6	2	2	0	2	0	0	0	3	3	2	1	0	3	2	1	0	3	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr18:50936959C>T	ENST00000442544.2	+	20	3689	c.3073C>T	c.(3073-3075)Cga>Tga	p.R1025*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R853*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R660*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1025	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R1025G(1)|p.R1025*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTCAAGCACGAAATTCAAA	0.378																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)											120	116	117					18																	50936959		2203	4300	6503	SO:0001587	stop_gained	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3073C>T	18.37:g.50936959C>T	ENSP00000389140:p.Arg1025*			Nonsense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1025*	ENST00000442544.2	37	c.3073	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	38	6.925823	0.97940	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	.	.	.	5.87	4.99	0.66335	.	0.080048	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-8.005	13.2613	0.60106	0.2888:0.7112:0.0:0.0	.	.	.	.	X	1025;853	.	ENSP00000397322:R853X	R	+	1	2	DCC	49190957	0.965000	0.33210	0.987000	0.45799	0.218000	0.24690	2.309000	0.43699	1.590000	0.49995	0.655000	0.94253	CGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3		0	75	0	C	NM_005215		50936959	1			no_errors	ENST00000442544	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	0.998	T	T	50936959	C	T	50936959	4	4	81	1	0	0	0	0	0	1	0	0	4291	528	19	1	3151	1	DCC	18	50936959	Nonsense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	3418280	50936959	27140289	252	21519											
RAX	30062	genome.wustl.edu	37	chr18	56939785	56939785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcgccggtggctggcccGacgggcagccctgggctcgg	2	6	18	15	5	0	0	0	0	0	0	2	1	0	0	3	6	1	4	3	6	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr18:56939785G>A	ENST00000334889.3	-	2	537	c.351C>T	c.(349-351)gtC>gtT	p.V117V	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	117					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		TGGCTGGCCCGACGGGCAGCC	0.682																																					GBM(150;770 1898 17679 24325 37807)												0													67	70	69					18																	56939785		2203	4300	6503	SO:0001819	synonymous_variant	0			AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"Homeoboxes / PRD class"	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.351C>T	18.37:g.56939785G>A			Q86V11	Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.V117	ENST00000334889.3	37	c.351	CCDS11972.1	18																																																																																			RAX	-	NULL	ENSG00000134438		0.682	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAX	HGNC	protein_coding	OTTHUMT00000256128.2	-	0	81	0	G			56939785	-1	tier1	-	no_errors	ENST00000334889	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.000	A	A	56939785	G	A	56939785	2	1	81	1	0	0	0	0	0	0	0	1	13141	1045	37	1		1	RAX	18	56939785	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	6002826	56939785	21137463	253	21520											
KCNG2	26251	genome.wustl.edu	37	chr18	77659371	77659371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccatgcgccgctgcgCgcgcgagttcgggctgctgc	3	7	15	16	7	0	1	0	1	0	0	1	2	0	1	3	1	4	4	3	1	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr18:77659371C>T	ENST00000316249.3	+	2	956	c.956C>T	c.(955-957)gCg>gTg	p.A319V	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	319					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCCGCTGCGCGCGCGAGTTC	0.741																																																	0													6	8	7					18																	77659371		2074	4063	6137	SO:0001583	missense	0			AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.956C>T	18.37:g.77659371C>T	ENSP00000315654:p.Ala319Val			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv	p.A319V	ENST00000316249.3	37	c.956	CCDS12019.1	18	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625612	0.46840	.	.	ENSG00000178342	ENST00000316249	D	0.98400	-4.91	3.19	2.31	0.28768	Ion transport (1);	0.222920	0.36519	U	0.002555	D	0.92711	0.7683	N	0.25957	0.775	0.30673	N	0.753176	B	0.32829	0.386	B	0.25884	0.064	D	0.87853	0.2659	10	0.02654	T	1	.	9.7774	0.40628	0.0:0.8958:0.0:0.1042	.	319	Q9UJ96	KCNG2_HUMAN	V	319	ENSP00000315654:A319V	ENSP00000315654:A319V	A	+	2	0	KCNG2	75760359	1.000000	0.71417	0.998000	0.56505	0.740000	0.42216	4.981000	0.63819	0.538000	0.28769	0.411000	0.27672	GCG	KCNG2	-	pfam_Ion_trans_dom	ENSG00000178342		0.741	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG2	HGNC	protein_coding	OTTHUMT00000103906.1	-	0	26	0	C	NM_012283		77659371	1	tier1	-	no_errors	ENST00000316249	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	T	T	77659371	C	T	77659371	3	4	81	1	0	0	0	0	1	0	0	0	8055	768	27	1	962	1	KCNG2	18	77659371	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	20719586	77659371	417877	254	21521											
PLIN4	729359	genome.wustl.edu	37	chr19	4512014	4512014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatattttgggtcgttttcAgcccagtttgcacagccccc	6	13	9	13	2	1	0	1	0	0	0	2	1	1	0	3	1	3	3	3	1	1	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:4512014A>G	ENST00000301286.3	-	3	1915	c.1916T>C	c.(1915-1917)cTg>cCg	p.L639P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	639	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GGTCGTTTTCAGCCCAGTTTG	0.552																																																	0													152	156	155					19																	4512014		2069	4187	6256	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1916T>C	19.37:g.4512014A>G	ENSP00000301286:p.Leu639Pro		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L639P	ENST00000301286.3	37	c.1916	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649577	0.47362	.	.	ENSG00000167676	ENST00000301286	T	0.07327	3.2	4.77	4.77	0.60923	.	0.775044	0.10524	N	0.664649	T	0.24084	0.0583	M	0.73962	2.25	0.48452	D	0.999659	D	0.71674	0.998	D	0.66602	0.945	T	0.01276	-1.1398	10	0.40728	T	0.16	-1.7812	6.1992	0.20567	0.8129:0.0:0.1871:0.0	.	639	Q96Q06	PLIN4_HUMAN	P	639	ENSP00000301286:L639P	ENSP00000301286:L639P	L	-	2	0	PLIN4	4463014	0.093000	0.21703	0.143000	0.22291	0.003000	0.03518	2.783000	0.47766	1.785000	0.52413	0.240000	0.17902	CTG	PLIN4	-	NULL	ENSG00000167676		0.552	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0	107	0	A	XM_170901		4512014	-1	tier1	-	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	8.16	45	4	SNP	0.779	G	G	4512014	A	G	4512014	3	3	81	1	0	0	0	0	1	0	0	0	12131	188	7	4	2173	4	PLIN4	19	4512014	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09		4512014	54616969	255	21522											
INSR	3643	genome.wustl.edu	37	chr19	7168031	7168031	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcggaagtcggggggccAgtacggctcccatctcagca	7	7	14	13	3	2	0	1	0	2	0	6	1	3	1	2	5	2	3	2	5	2	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:7168031A>G	ENST00000302850.5	-	7	1700	c.1558T>C	c.(1558-1560)Tgg>Cgg	p.W520R	INSR_ENST00000341500.5_Missense_Mutation_p.W520R	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	520					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""Insulin(DB00071)|""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	TCGGGGGGCCAGTACGGCTCC	0.473																																																	0													57	61	60					19																	7168031		2203	4300	6503	SO:0001583	missense	0			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"CD molecules", "Fibronectin type III domain containing"	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1558T>C	19.37:g.7168031A>G	ENSP00000303830:p.Trp520Arg		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.W520R	ENST00000302850.5	37	c.1558	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	A	5.450	0.268187	0.10349	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.66995	-0.24;-0.24	4.62	4.62	0.57501	Fibronectin, type III (1);	0.000000	0.43579	D	0.000543	T	0.47619	0.1455	N	0.24115	0.695	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.39231	-0.9624	10	0.07482	T	0.82	.	12.0441	0.53469	1.0:0.0:0.0:0.0	.	511;520;520	Q86WY9;P06213-2;P06213	.;.;INSR_HUMAN	R	520	ENSP00000303830:W520R;ENSP00000342838:W520R	ENSP00000303830:W520R	W	-	1	0	INSR	7119031	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	4.880000	0.63107	1.946000	0.56461	0.379000	0.24179	TGG	INSR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000171105		0.473	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	-	0	71	0	A			7168031	-1	tier1	-	no_errors	ENST00000302850	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	G	G	7168031	A	G	7168031	3	3	81	1	0	0	0	0	1	0	0	0	7800	188	7	4	2654	4	INSR	19	7168031	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	2656017	7168031	51960952	256	21523											
KIAA1543	57662	genome.wustl.edu	37	chr19	7682863	7682863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccatgtccatgagcgtcGatgccttcaccatccaggga	10	8	10	13	2	1	2	1	1	0	1	4	4	3	3	5	1	2	0	5	1	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:7682863G>A	ENST00000160298.4	+	17	3771	c.3670G>A	c.(3670-3672)Gat>Aat	p.D1224N	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.D1251N	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1224	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)	p.D1224N(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CATGAGCGTCGATGCCTTCAC	0.642																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											52	59	57					19																	7682863		2029	4174	6203	SO:0001583	missense	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 80"	612685	"KIAA1543"	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.3670G>A	19.37:g.7682863G>A	ENSP00000160298:p.Asp1224Asn		Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.D1251N	ENST00000160298.4	37	c.3751	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904195	0.92035	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.32515	1.47;1.45	5.06	4.02	0.46733	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.115866	0.56097	D	0.000039	T	0.56217	0.1970	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.97110	0.93;1.0;0.999	T	0.62746	-0.6789	10	0.87932	D	0	-25.9859	12.7124	0.57098	0.0812:0.0:0.9188:0.0	.	1235;1224;1251	D6W648;Q9P1Y5;Q9P1Y5-2	.;CAMP3_HUMAN;.	N	1251;1224	ENSP00000416797:D1251N;ENSP00000160298:D1224N	ENSP00000160298:D1224N	D	+	1	0	KIAA1543	7588863	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.492000	0.97957	1.360000	0.45960	0.462000	0.41574	GAT	CAMSAP3	-	pfam_CKK_domain,superfamily_PRC_barrel-like	ENSG00000076826		0.642	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1		0	90	0	G	XM_048362		7682863	1			no_errors	ENST00000446248	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	7682863	G	A	7682863	3	1	81	1	0	0	0	0	1	0	0	0	8270	1058	37	1	3825	1	KIAA1543	19	7682863	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	514832	7682863	51446120	257	21524											
MUC16	94025	genome.wustl.edu	37	chr19	9059236	9059236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttgtcaccactgactgtgGaaatctctgagttgtagctg	9	13	11	8	0	2	2	1	2	1	0	3	3	2	3	1	1	1	4	1	1	2	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:9059236G>A	ENST00000397910.4	-	3	28413	c.28210C>T	c.(28210-28212)Cca>Tca	p.P9404S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9406	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P9404S(1)|p.P5037S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGACTGTGGAAATCTCTGA	0.537																																																	2	Substitution - Missense(2)	NS(2)											121	119	120					19																	9059236		1995	4183	6178	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28210C>T	19.37:g.9059236G>A	ENSP00000381008:p.Pro9404Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P9404S	ENST00000397910.4	37	c.28210	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	3.675	-0.066807	0.07273	.	.	ENSG00000181143	ENST00000397910	T	0.19532	2.14	2.14	-4.29	0.03721	.	.	.	.	.	T	0.10723	0.0262	N	0.19112	0.55	.	.	.	B	0.23540	0.087	B	0.30179	0.112	T	0.36696	-0.9737	8	0.87932	D	0	.	0.1534	0.00096	0.2583:0.1653:0.2584:0.3181	.	9404	B5ME49	.	S	9404	ENSP00000381008:P9404S	ENSP00000381008:P9404S	P	-	1	0	MUC16	8920236	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.995000	0.03712	-1.401000	0.02058	0.306000	0.20318	CCA	MUC16	-	NULL	ENSG00000181143		0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	68	0	G	NM_024690		9059236	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.000	A	A	9059236	G	A	9059236	3	1	81	1	0	0	0	0	1	0	0	0	10011	1174	41	3	15641	3	MUC16	19	9059236	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	1376373	9059236	50069747	258	21525											
ZNF266	10781	genome.wustl.edu	37	chr19	9524071	9524071	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagtgtgagttcgttcAtgtaactgaaacgaattgga	11	13	10	7	2	2	2	1	2	1	0	4	4	2	3	1	1	2	3	1	1	3	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:9524071A>C	ENST00000592904.1	-	5	3606	c.1530T>G	c.(1528-1530)caT>caG	p.H510Q	ZNF266_ENST00000361151.1_Missense_Mutation_p.H510Q|ZNF266_ENST00000588933.1_Missense_Mutation_p.H510Q|ZNF266_ENST00000361451.2_Missense_Mutation_p.H510Q|ZNF266_ENST00000590306.1_Missense_Mutation_p.H510Q|ZNF266_ENST00000588221.1_Missense_Mutation_p.H510Q|ZNF266_ENST00000592292.1_Missense_Mutation_p.H510Q			Q14584	ZN266_HUMAN	zinc finger protein 266	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						GAGTTCGTTCATGTAACTGAA	0.443																																																	0													102	77	85					19																	9524071		2203	4300	6503	SO:0001583	missense	0			X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"Zinc fingers, C2H2-type"	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.1530T>G	19.37:g.9524071A>C	ENSP00000466714:p.His510Gln		A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H510Q	ENST00000592904.1	37	c.1530	CCDS12213.1	19	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134550	0.56828	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	D;D	0.86865	-2.18;-2.18	2.34	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94069	0.8099	H	0.95294	3.65	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84366	0.0541	9	0.87932	D	0	.	5.4008	0.16295	0.8439:0.0:0.1561:0.0	.	510	Q14584	ZN266_HUMAN	Q	510	ENSP00000354680:H510Q;ENSP00000355047:H510Q	ENSP00000355047:H510Q	H	-	3	2	ZNF266	9385071	0.001000	0.12720	0.003000	0.11579	0.600000	0.36913	-0.295000	0.08298	0.348000	0.23949	0.374000	0.22700	CAT	ZNF266	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174652		0.443	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF266	HGNC	protein_coding	OTTHUMT00000449033.1		0	79	0	A			9524071	-1			no_errors	ENST00000361151	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.091	C	C	9524071	A	C	9524071	3	2	81	1	0	0	0	0	1	0	0	0	17853	214	8	4	123	4	ZNF266	19	9524071	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	464835	9524071	49604912	259	21526											
RGL3	57139	genome.wustl.edu	37	chr19	11529358	11529358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcacctggctgccccCggggccctccgccgggctcc	1	6	11	23	3	1	0	1	0	0	0	4	0	4	0	9	4	1	2	9	4	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:11529358C>G	ENST00000380456.3	-	2	199	c.136G>C	c.(136-138)Ggg>Cgg	p.G46R	RGL3_ENST00000393423.3_Missense_Mutation_p.G46R	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	46					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TGGCTGCCCCCGGGGCCCTCC	0.731																																					GBM(174;751 2067 17998 27979 33959)												0													3	4	4					19																	11529358		1912	3922	5834	SO:0001583	missense	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.136G>C	19.37:g.11529358C>G	ENSP00000369823:p.Gly46Arg		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G46R	ENST00000380456.3	37	c.136	CCDS32910.1	19	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921674	0.17982	.	.	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.39592	1.19;1.07	3.76	2.68	0.31781	.	1.511100	0.04229	N	0.334988	T	0.24236	0.0587	N	0.03115	-0.41	0.09310	N	1	B;B;B	0.22146	0.031;0.065;0.042	B;B;B	0.25291	0.007;0.059;0.01	T	0.22765	-1.0207	10	0.15499	T	0.54	.	11.2105	0.48795	0.0:0.7959:0.2041:0.0	.	46;46;46	B4DPC9;Q3MIN7;B5ME84	.;RGL3_HUMAN;.	R	46	ENSP00000377075:G46R;ENSP00000369823:G46R	ENSP00000369823:G46R	G	-	1	0	RGL3	11390358	0.019000	0.18553	0.006000	0.13384	0.026000	0.11368	2.120000	0.41968	0.660000	0.30964	0.305000	0.20034	GGG	RGL3	-	NULL	ENSG00000205517		0.731	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	-	0	42	0	C	XM_290867		11529358	-1	tier1	-	no_errors	ENST00000393423	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.077	G	G	11529358	C	G	11529358	3	3	81	1	0	0	0	0	1	0	0	0	13323	652	23	5	2086	5	RGL3	19	11529358	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2005287	11529358	47599625	260	21527											
MAN2B1	4125	genome.wustl.edu	37	chr19	12760229	12760229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggttcagtttccaggtggGtcgataatcccgcctggggt	5	12	14	10	2	1	0	1	0	0	0	4	1	3	0	3	5	0	2	3	5	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:12760229G>A	ENST00000456935.2	-	19	2321	c.2281C>T	c.(2281-2283)Ccc>Tcc	p.P761S	MAN2B1_ENST00000221363.4_Missense_Mutation_p.P760S|CTD-2192J16.22_ENST00000597692.1_5'Flank	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	761					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCAGGTGGGTCGATAATCC	0.522																																																	0													57	44	48					19																	12760229		2203	4300	6503	SO:0001583	missense	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2281C>T	19.37:g.12760229G>A	ENSP00000395473:p.Pro761Ser		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P761S	ENST00000456935.2	37	c.2281	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975543	0.34848	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.77750	-1.12;-1.12	4.55	4.55	0.56014	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.38663	N	0.001601	T	0.70902	0.3277	L	0.56280	1.765	0.45930	D	0.998763	P;P	0.50528	0.867;0.936	B;B	0.41619	0.247;0.361	T	0.70806	-0.4772	10	0.33940	T	0.23	-25.2296	10.6638	0.45717	0.0:0.1942:0.8058:0.0	.	760;761	G5E928;O00754	.;MA2B1_HUMAN	S	761;700;760	ENSP00000395473:P761S;ENSP00000221363:P760S	ENSP00000221363:P760S	P	-	1	0	MAN2B1	12621229	1.000000	0.71417	0.945000	0.38365	0.420000	0.31355	3.780000	0.55386	2.376000	0.81061	0.561000	0.74099	CCC	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000104774		0.522	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1		0	47	0	G			12760229	-1			no_errors	ENST00000456935	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	12760229	G	A	12760229	3	1	81	1	0	0	0	0	1	0	0	0	9254	1261	44	3	778	3	MAN2B1	19	12760229	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	1230871	12760229	46368754	261	21528											
FBXW9	84261	genome.wustl.edu	37	chr19	12800370	12800370	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccggatggtcttgtcAgtggatgtggtgtacaaggc	7	11	14	9	1	3	0	2	0	1	0	3	2	3	2	1	5	1	1	1	5	2	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:12800370A>G	ENST00000380339.3	-	8	1347	c.1311T>C	c.(1309-1311)acT>acC	p.T437T	CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000544494.1_Silent_p.T145T|CTD-2192J16.26_ENST00000593554.1_lincRNA|FBXW9_ENST00000393261.3_Silent_p.T407T|FBXW9_ENST00000587955.1_Silent_p.T427T			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	437					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)					cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TGGTCTTGTCAGTGGATGTGG	0.612																																																	0													101	93	96					19																	12800370		2203	4300	6503	SO:0001819	synonymous_variant	0			BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"F-boxes / WD-40 domains", "WD repeat domain containing"	28136	protein-coding gene	gene with protein product		609074	"F-box and WD-40 domain protein 9"			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1311T>C	19.37:g.12800370A>G			B3KVP7|Q9BT89	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T437	ENST00000380339.3	37	c.1311		19																																																																																			FBXW9	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000132004		0.612	FBXW9-201	KNOWN	basic	protein_coding	FBXW9	HGNC	protein_coding		-	0	76	0	A	NM_032301		12800370	-1	tier1	-	no_errors	ENST00000380339	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.762	G	G	12800370	A	G	12800370	2	3	81	1	0	0	0	0	0	0	0	1	5793	175	7	4		4	FBXW9	19	12800370	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	40141	12800370	46328613	262	21529											
BRD4	23476	genome.wustl.edu	37	chr19	15355177	15355177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgatggggtcaaagaCgctgcctgggagctggggct	6	7	19	9	2	1	1	1	0	0	1	1	3	1	2	2	6	2	3	2	6	1	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:15355177C>T	ENST00000263377.2	-	13	2667	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	816					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGTCAAAGACGCTGCCTGGG	0.697			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													15	18	17					19																	15355177		2195	4297	6492	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2446G>A	19.37:g.15355177C>T	ENSP00000263377:p.Val816Ile		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V816I	ENST00000263377.2	37	c.2446	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395273	0.42512	.	.	ENSG00000141867	ENST00000263377	T	0.29655	1.56	4.43	3.37	0.38596	.	0.141137	0.32640	N	0.005828	T	0.21145	0.0509	L	0.47716	1.5	0.80722	D	1	B	0.30146	0.27	B	0.17433	0.018	T	0.05354	-1.0890	10	0.33940	T	0.23	-14.04	6.1744	0.20434	0.0:0.7036:0.1928:0.1035	.	816	O60885	BRD4_HUMAN	I	816	ENSP00000263377:V816I	ENSP00000263377:V816I	V	-	1	0	BRD4	15216177	0.917000	0.31117	1.000000	0.80357	0.993000	0.82548	0.999000	0.29757	0.831000	0.34780	0.561000	0.74099	GTC	BRD4	-	NULL	ENSG00000141867		0.697	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	0	96	0	C	NM_058243		15355177	-1	tier1	-	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.997	T	T	15355177	C	T	15355177	3	4	81	1	0	0	0	0	1	0	0	0	1508	536	19	1	1674	1	BRD4	19	15355177	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2554807	15355177	43773806	263	21530											
ZNF675	171392	genome.wustl.edu	37	chr19	23836558	23836558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttacatttgtagggtttctCttcggtatgaattttcctat	7	21	7	6	1	1	1	0	1	1	0	4	1	2	1	1	2	1	3	1	2	5	10			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:23836558C>G	ENST00000359788.4	-	4	1345	c.1177G>C	c.(1177-1179)Gag>Cag	p.E393Q	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	393					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAGGGTTTCTCTTCGGTATGA	0.398																																																	0													65	64	64					19																	23836558		2203	4300	6503	SO:0001583	missense	0				CCDS32981.1	19p12	2013-01-08						"Zinc fingers, C2H2-type", "-"	30768	protein-coding gene	gene with protein product	"TRAF6 inhibitory zinc finger"					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1177G>C	19.37:g.23836558C>G	ENSP00000352836:p.Glu393Gln		Q8N211	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E393Q	ENST00000359788.4	37	c.1177	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	12.98	2.100646	0.37048	.	.	ENSG00000197372	ENST00000359788	T	0.25912	1.77	0.225	0.225	0.15325	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32406	0.0828	L	0.49699	1.58	0.31038	N	0.716655	P	0.48764	0.915	P	0.53593	0.73	T	0.37596	-0.9699	9	0.72032	D	0.01	.	7.9744	0.30147	0.0:0.9999:0.0:1.0E-4	.	393	Q8TD23	ZN675_HUMAN	Q	393	ENSP00000352836:E393Q	ENSP00000352836:E393Q	E	-	1	0	ZNF675	23628398	0.237000	0.23815	0.004000	0.12327	0.004000	0.04260	0.533000	0.23082	0.300000	0.22699	0.305000	0.20034	GAG	ZNF675	-	pfscan_Znf_C2H2	ENSG00000197372		0.398	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	-	0	99	0	C	NM_138330		23836558	-1	tier1	-	no_errors	ENST00000359788	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	G	G	23836558	C	G	23836558	3	3	81	1	0	0	0	0	1	0	0	0	18130	922	32	5	533	5	ZNF675	19	23836558	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	8481381	23836558	35292425	264	21531											
ZNF254	9534	genome.wustl.edu	37	chr19	24310680	24310680	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagagaattcatactggAgagcaaccctacaaatggga	17	7	9	8	0	1	2	1	0	0	2	1	5	1	3	1	2	4	1	1	2	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:24310680A>G	ENST00000357002.4	+	4	1993	c.1878A>G	c.(1876-1878)ggA>ggG	p.G626G	ZNF254_ENST00000342944.6_Silent_p.G541G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	626					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTCATACTGGAGAGCAACCCT	0.388																																																	0													65	68	67					19																	24310680		2202	4299	6501	SO:0001819	synonymous_variant	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1878A>G	19.37:g.24310680A>G			A4QPC0|Q86XL7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G626	ENST00000357002.4	37	c.1878	CCDS32983.1	19																																																																																			ZNF254	-	pfscan_Znf_C2H2	ENSG00000213096		0.388	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	-	0	60	0	A	NM_004876		24310680	1	tier1	-	no_errors	ENST00000357002	ensembl	human	known	74_37	silent	16.22	31	6	SNP	0.997	G	G	24310680	A	G	24310680	2	3	81	1	0	0	0	0	0	0	0	1	17846	291	11	4		4	ZNF254	19	24310680	Silent	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	474122	24310680	34818303	265	21532											
ATP4A	495	genome.wustl.edu	37	chr19	36050028	36050028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcccaatgtctccacCgcctccaggttcttgaccac	7	9	9	16	1	2	1	0	1	2	0	4	2	3	2	6	2	1	1	6	2	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:36050028C>T	ENST00000262623.3	-	8	1150	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	374					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ATGTCTCCACCGCCTCCAGGT	0.602																																																	0													233	206	215					19																	36050028		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1122G>A	19.37:g.36050028C>T			O00738	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.A374	ENST00000262623.3	37	c.1122	CCDS12467.1	19																																																																																			ATP4A	-	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000105675		0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0	46	0	C	NM_000704		36050028	-1	tier1	-	no_errors	ENST00000262623	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.987	T	T	36050028	C	T	36050028	2	4	81	1	0	0	0	0	0	0	0	1	1146	639	23	1		1	ATP4A	19	36050028	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	11739348	36050028	23078955	266	21533											
WDR62	284403	genome.wustl.edu	37	chr19	36562584	36562584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcccaagccacactacCttggggtagacgtggcacag	10	6	11	14	1	0	1	0	0	0	1	0	1	0	1	4	3	3	2	4	3	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:36562584C>G	ENST00000270301.7	+	8	1009	c.1009C>G	c.(1009-1011)Ctt>Gtt	p.L337V	WDR62_ENST00000388999.3_Missense_Mutation_p.L337V|WDR62_ENST00000401500.2_Missense_Mutation_p.L337V|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	337					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCACACTACCTTGGGGTAGA	0.617																																																	0													58	52	54					19																	36562584		2203	4300	6503	SO:0001583	missense	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"WD repeat domain containing"	24502	protein-coding gene	gene with protein product		613583	"chromosome 19 open reading frame 14", "microcephaly, primary autosomal recessive 2"	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1009C>G	19.37:g.36562584C>G	ENSP00000270301:p.Leu337Val		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L337V	ENST00000270301.7	37	c.1009	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225638	0.79576	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.59906	0.43;0.23;5.0;0.35	5.96	3.84	0.44239	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74306	0.3699	M	0.81341	2.54	0.58432	D	0.99999	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.971;0.996	T	0.76342	-0.2994	10	0.51188	T	0.08	-22.5894	11.1906	0.48683	0.0:0.8479:0.0:0.1521	.	337;337;337	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	V	337;337;337;337;359	ENSP00000384792:L337V;ENSP00000373651:L337V;ENSP00000368137:L337V;ENSP00000270301:L337V	ENSP00000270301:L337V	L	+	1	0	WDR62	41254424	1.000000	0.71417	0.994000	0.49952	0.861000	0.49209	2.564000	0.45931	1.538000	0.49270	-0.140000	0.14226	CTT	WDR62	-	superfamily_WD40_repeat_dom	ENSG00000075702		0.617	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	-	0	42	0	C	NM_015671		36562584	1	tier1	-	no_errors	ENST00000401500	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	G	G	36562584	C	G	36562584	3	3	81	1	0	0	0	0	1	0	0	0	17362	681	24	5	1039	5	WDR62	19	36562584	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	512556	36562584	22566399	267	21534											
ZFP82	284406	genome.wustl.edu	37	chr19	36883755	36883755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagaatgaattctcagaTgttgaataagggatgaatta	16	11	9	5	0	1	5	1	3	1	2	2	6	1	6	1	1	0	1	1	1	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:36883755T>G	ENST00000392161.3	-	5	1729	c.1487A>C	c.(1486-1488)cAt>cCt	p.H496P	ZFP82_ENST00000392171.1_Missense_Mutation_p.H496P	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATTCTCAGATGTTGAATAAG	0.368																																																	0													74	73	74					19																	36883755		2203	4300	6503	SO:0001583	missense	0			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"Zinc fingers, C2H2-type", "-"	28682	protein-coding gene	gene with protein product			"zinc finger protein 545", "zinc finger protein 82 homolog (mouse)", "zinc finger protein 82"	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1487A>C	19.37:g.36883755T>G	ENSP00000431265:p.His496Pro		Q8NC63|Q8TF53	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H496P	ENST00000392161.3	37	c.1487	CCDS12493.1	19	.	.	.	.	.	.	.	.	.	.	T	17.07	3.296061	0.60086	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	D;D	0.86865	-2.18;-2.18	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000619	D	0.95589	0.8566	H	0.98155	4.16	0.46586	D	0.999117	D	0.89917	1.0	D	0.97110	1.0	D	0.96329	0.9242	10	0.87932	D	0	.	11.5587	0.50764	0.0:0.0:0.0:1.0	.	496	Q8N141	ZFP82_HUMAN	P	496	ENSP00000431265:H496P;ENSP00000446080:H496P	ENSP00000431265:H496P	H	-	2	0	ZFP82	41575595	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.888000	0.69758	1.905000	0.55150	0.482000	0.46254	CAT	ZFP82	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181007		0.368	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP82	HGNC	protein_coding	OTTHUMT00000109552.2	-	0	88	0	T	NM_133466		36883755	-1	tier1	-	no_errors	ENST00000392161	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	G	G	36883755	T	G	36883755	3	3	81	1	0	0	0	0	1	0	0	0	17701	1464	51	4	115	4	ZFP82	19	36883755	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	321171	36883755	22245228	268	21535											
PAF1	55095	genome.wustl.edu	37	chr19	39876775	39876775	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccacccccattgctgccGctgtctgaatcattgtcact	6	12	8	15	1	3	1	2	1	1	0	3	1	3	1	4	1	2	2	4	1	1	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:39876775G>A	ENST00000314471.6	+	0	4519				PAF1_ENST00000595564.1_Missense_Mutation_p.A413V|PAF1_ENST00000221265.3_Silent_p.S484S|PAF1_ENST00000221266.7_Missense_Mutation_p.A390V	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CATTGCTGCCGCTGTCTGAAT	0.617																																																	0													116	102	106					19																	39876775		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"Sterile alpha motif (SAM) domain containing"	25492	protein-coding gene	gene with protein product	"smaug homolog B (Drosophila)"					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9			19.37:g.39876775G>A			A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.A413V	ENST00000314471.6	37	c.1238	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	g	8.333	0.826860	0.16749	.	.	ENSG00000006712	ENST00000221266	.	.	.	4.81	-9.17	0.00691	.	.	.	.	.	T	0.48768	0.1518	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18903	-1.0322	7	0.87932	D	0	-17.0142	14.2195	0.65818	0.7383:0.0:0.2617:0.0	.	390	F8W9Q2	.	V	390	.	ENSP00000221266:A390V	A	-	2	0	PAF1	44568615	0.002000	0.14202	0.872000	0.34217	0.091000	0.18340	-1.932000	0.01554	-1.486000	0.01851	-0.366000	0.07423	GCG	PAF1	-	NULL	ENSG00000006712		0.617	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000464467.1	-	0	38	0	G	NM_018028		39876775	-1	tier1	-	no_errors	ENST00000595564	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.949	A	A	39876775	G	A	39876775	1	1	81	0	1	0	0	0	0	0	0	0	11422	1078	38	1		1	PAF1	19	39876775	IGR	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	2993020	39876775	19252208	269	21536											
PAFAH1B3	5050	genome.wustl.edu	37	chr19	42806151	42806151	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccccgatgaagacgactTcgggttccttatctttgctg	7	13	10	11	3	1	2	0	1	1	1	4	4	3	2	3	1	1	2	3	1	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:42806151T>G	ENST00000262890.3	-	2	380	c.119A>C	c.(118-120)gAa>gCa	p.E40A	PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Missense_Mutation_p.E40A|PRR19_ENST00000341747.3_5'Flank	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	40					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				GAAGACGACTTCGGGTTCCTT	0.647																																																	0													58	51	53					19																	42806151		2196	4292	6488	SO:0001583	missense	0			D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"PAF-AH1b alpha 1 subunit"	603074	"platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)", "platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.119A>C	19.37:g.42806151T>G	ENSP00000262890:p.Glu40Ala		Q53X88	Missense_Mutation	SNP	NULL	p.E40A	ENST00000262890.3	37	c.119	CCDS12602.1	19	.	.	.	.	.	.	.	.	.	.	T	20.7	4.033273	0.75504	.	.	ENSG00000079462	ENST00000538771;ENST00000262890	T;T	0.43294	0.95;0.95	4.54	4.54	0.55810	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.112315	0.64402	D	0.000014	T	0.34279	0.0892	L	0.52573	1.65	0.51012	D	0.999909	P	0.36874	0.572	B	0.31390	0.129	T	0.20505	-1.0273	10	0.40728	T	0.16	-9.5017	11.8744	0.52539	0.0:0.0:0.0:1.0	.	40	Q15102	PA1B3_HUMAN	A	40	ENSP00000444935:E40A;ENSP00000262890:E40A	ENSP00000262890:E40A	E	-	2	0	PAFAH1B3	47497991	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	5.061000	0.64319	1.910000	0.55303	0.379000	0.24179	GAA	PAFAH1B3	-	NULL	ENSG00000079462		0.647	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B3	HGNC	protein_coding	OTTHUMT00000463726.1	-	0	70	0	T	NM_002573		42806151	-1	tier1	-	no_errors	ENST00000262890	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	G	G	42806151	T	G	42806151	3	3	81	1	0	0	0	0	1	0	0	0	11425	1783	62	4	592	4	PAFAH1B3	19	42806151	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	2929376	42806151	16322832	270	21537											
RTN2	6253	genome.wustl.edu	37	chr19	45997939	45997939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggtcttccagagggCgctcggatggaggcgcggtg	5	7	18	11	4	2	1	1	0	1	1	4	3	3	3	2	6	0	1	2	6	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:45997939C>T	ENST00000245923.4	-	3	639	c.404G>A	c.(403-405)cGc>cAc	p.R135H	PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.R135H|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	135					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCCAGAGGGCGCTCGGATGG	0.687																																																	0													49	56	53					19																	45997939		2203	4300	6503	SO:0001583	missense	0			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"NSP-like protein 1", "Neuroendocrine-specific protein-like 1"	603183	"spastic paraplegia 12 (autosomal dominant)"	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.404G>A	19.37:g.45997939C>T	ENSP00000245923:p.Arg135His		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R135H	ENST00000245923.4	37	c.404	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	C	7.955	0.745622	0.15710	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.54071	0.65;0.59	5.58	1.86	0.25419	.	0.412390	0.21011	N	0.081687	T	0.33440	0.0863	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.18013	0.025;0.001	B;B	0.14578	0.011;0.001	T	0.14035	-1.0487	10	0.34782	T	0.22	-4.3138	6.0459	0.19760	0.0:0.6222:0.1704:0.2074	.	135;135	O75298-2;O75298	.;RTN2_HUMAN	H	135	ENSP00000345127:R135H;ENSP00000245923:R135H	ENSP00000245923:R135H	R	-	2	0	RTN2	50689779	0.976000	0.34144	0.016000	0.15963	0.223000	0.24884	0.813000	0.27225	0.662000	0.31006	0.563000	0.77884	CGC	RTN2	-	NULL	ENSG00000125744		0.687	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1		0	134	0	C	NM_005619		45997939	-1			no_errors	ENST00000245923	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.002	T	T	45997939	C	T	45997939	3	4	81	1	0	0	0	0	1	0	0	0	13771	768	27	1	1269	1	RTN2	19	45997939	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	3191788	45997939	13131044	271	21538											
SHANK1	50944	genome.wustl.edu	37	chr19	51169688	51169688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtggcggtgggcccggGccctcctcccagggcagcag	3	5	19	14	2	0	0	0	0	0	0	2	0	2	0	4	7	1	2	4	7	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:51169688G>A	ENST00000293441.1	-	22	5547	c.5529C>T	c.(5527-5529)ggC>ggT	p.G1843G	SHANK1_ENST00000359082.3_Silent_p.G1834G|SHANK1_ENST00000391814.1_Silent_p.G1851G|SHANK1_ENST00000391813.1_Silent_p.G1230G|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1843					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTGGGCCCGGGCCCTCCTCCC	0.697																																																	0													11	13	12					19																	51169688		2193	4285	6478	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5529C>T	19.37:g.51169688G>A			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.G1851	ENST00000293441.1	37	c.5553	CCDS12799.1	19																																																																																			SHANK1	-	NULL	ENSG00000161681		0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	-	0	34	0	G	NM_016148		51169688	-1	tier1	-	no_errors	ENST00000391814	ensembl	human	known	74_37	silent	16.00	21	4	SNP	1.000	A	A	51169688	G	A	51169688	2	1	81	1	0	0	0	0	0	0	0	1	14309	1190	42	3		3	SHANK1	19	51169688	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	5171749	51169688	7959295	272	21539											
KLK15	55554	genome.wustl.edu	37	chr19	51330365	51330365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agacgtggtccgtagttgctCtgggccatcgcgcttgcgca	5	10	14	12	5	1	1	0	0	1	1	3	1	2	1	2	2	2	5	2	2	1	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:51330365C>G	ENST00000598239.1	-	3	280	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	KLK15_ENST00000416184.1_Missense_Mutation_p.E84Q|KLK15_ENST00000301421.2_Missense_Mutation_p.E84Q|KLK15_ENST00000326856.4_Missense_Mutation_p.E83Q|KLK15_ENST00000596931.1_Missense_Mutation_p.E83Q	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	84	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CGTAGTTGCTCTGGGCCATCG	0.647																																					Pancreas(140;10 2513 7143 9246)												0													82	70	74					19																	51330365		2203	4300	6503	SO:0001583	missense	0			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.250G>C	19.37:g.51330365C>G	ENSP00000469315:p.Glu84Gln		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E84Q	ENST00000598239.1	37	c.250	CCDS12805.1	19	.	.	.	.	.	.	.	.	.	.	c	33	5.241245	0.95272	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89196	-2.48;-2.48	4.51	4.51	0.55191	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47093	D	0.000251	D	0.91106	0.7200	L	0.37561	1.115	0.43412	D	0.995559	D;B;D;D	0.76494	0.998;0.181;0.984;0.999	P;B;D;D	0.74674	0.888;0.17;0.95;0.984	D	0.91936	0.5559	10	0.72032	D	0.01	.	15.1071	0.72329	0.0:1.0:0.0:0.0	.	84;83;84;84	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	Q	84	ENSP00000415136:E84Q;ENSP00000301421:E84Q	ENSP00000301421:E84Q	E	-	1	0	KLK15	56022177	0.999000	0.42202	0.070000	0.20053	0.867000	0.49689	4.372000	0.59530	2.519000	0.84933	0.561000	0.74099	GAG	KLK15	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000174562		0.647	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	HGNC	protein_coding	OTTHUMT00000465160.1	-	0	58	0	C	NM_017509		51330365	-1	tier1	-	no_errors	ENST00000598239	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	G	G	51330365	C	G	51330365	3	3	81	1	0	0	0	0	1	0	0	0	8430	922	32	5	532	5	KLK15	19	51330365	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	160677	51330365	7798618	273	21540											
ZNF880	400713	genome.wustl.edu	37	chr19	52876492	52876492	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctggtctttctgggTgaggataatgtcccttcaga	9	12	12	8	0	3	2	1	1	2	1	4	4	4	4	2	4	1	0	2	4	2	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:52876492T>A	ENST00000422689.2	+	2	154		c.e2+2		ZNF880_ENST00000424032.2_Splice_Site|ZNF880_ENST00000600321.1_Splice_Site|ZNF880_ENST00000344085.5_Splice_Site|ZNF880_ENST00000597976.1_Splice_Site	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCTTTCTGGGTGAGGATAATG	0.468																																																	0													67	65	66					19																	52876492		692	1591	2283	SO:0001630	splice_region_variant	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.139+2T>A	19.37:g.52876492T>A			B4DNA6	Splice_Site	SNP	-	e2+2	ENST00000422689.2	37	c.139+2	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	N	1.061	-0.672759	0.03403	.	.	ENSG00000221923	ENST00000424032;ENST00000344085;ENST00000422689	.	.	.	1.62	0.469	0.16741	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5393	0.12049	0.0:0.1921:0.0:0.8079	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF880	57568304	1.000000	0.71417	0.217000	0.23759	0.028000	0.11728	2.553000	0.45837	-0.094000	0.12374	0.260000	0.18958	.	ZNF880	-	-	ENSG00000221923		0.468	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	98	0	T	NM_001145434	Intron	52876492	1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	0.876	A	A	52876492	T	A	52876492	5	1	81	1	0	0	0	0	0	0	1	0	18245	1710	59	5	147	5	ZNF880	19	52876492	Splice_Site	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	1546127	52876492	6252491	274	21541											
SYT5	6861	genome.wustl.edu	37	chr19	55686690	55686690	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccagcaccctgcccccCagctccacgtaggggacctg	8	5	10	18	1	0	1	0	1	0	0	1	2	1	2	7	2	3	3	7	2	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr19:55686690C>A	ENST00000354308.3	-	6	927	c.558G>T	c.(556-558)ctG>ctT	p.L186L	SYT5_ENST00000590851.1_Silent_p.L183L|SYT5_ENST00000537500.1_Silent_p.L186L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000592935.1_5'Flank	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	186	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCCTGCCCCCCAGCTCCACGT	0.612																																																	0													35	30	32					19																	55686690		2202	4300	6502	SO:0001819	synonymous_variant	0			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"Synaptotagmins"	11513	protein-coding gene	gene with protein product	"synaptotagmin 5"	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.558G>T	19.37:g.55686690C>A			B3KWJ8|B7Z300|Q86X72	Silent	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.L186	ENST00000354308.3	37	c.558	CCDS12919.1	19																																																																																			SYT5	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	ENSG00000129990		0.612	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	-	0	50	0	C	NM_003180		55686690	-1	tier1	-	no_errors	ENST00000354308	ensembl	human	known	74_37	silent	17.95	31	7	SNP	1.000	A	A	55686690	C	A	55686690	2	1	81	1	0	0	0	0	0	0	0	1	15524	581	21	3		3	SYT5	19	55686690	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2810198	55686690	3442293	275	21542											
MKKS	8195	genome.wustl.edu	37	chr20	10389433	10389433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taggacatattgagcctaggGatccaataggctgtgttcct	10	12	11	8	0	0	1	0	1	0	0	2	3	2	3	3	3	1	2	3	3	5	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr20:10389433G>T	ENST00000347364.3	-	4	1766	c.1004C>A	c.(1003-1005)tCc>tAc	p.S335Y	MKKS_ENST00000399054.2_Missense_Mutation_p.S335Y	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	335	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TGAGCCTAGGGATCCAATAGG	0.328																																					Melanoma(79;1979 2212 6640)												0													73	70	71					20																	10389433		2203	4300	6503	SO:0001583	missense	0			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"Heat Shock Proteins / Chaperonins"	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.1004C>A	20.37:g.10389433G>T	ENSP00000246062:p.Ser335Tyr		A8K7B0|D3DW18	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.S335Y	ENST00000347364.3	37	c.1004	CCDS13111.1	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079239	0.76528	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	T;T	0.80480	-1.38;-1.38	5.87	4.92	0.64577	.	0.155854	0.64402	D	0.000015	D	0.87212	0.6121	M	0.75447	2.3	0.58432	D	0.999995	D	0.54397	0.966	P	0.55577	0.779	D	0.88804	0.3287	10	0.62326	D	0.03	-20.3443	17.4292	0.87534	0.0:0.1245:0.8755:0.0	.	335	Q9NPJ1	MKKS_HUMAN	Y	335	ENSP00000246062:S335Y;ENSP00000382008:S335Y	ENSP00000246062:S335Y	S	-	2	0	MKKS	10337433	1.000000	0.71417	0.563000	0.28383	0.867000	0.49689	4.878000	0.63093	1.611000	0.50210	0.655000	0.94253	TCC	MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000125863		0.328	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	-	0	45	0	G			10389433	-1	tier1	-	no_errors	ENST00000347364	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.990	T	T	10389433	G	T	10389433	3	4	81	1	0	0	0	0	1	0	0	0	9638	1174	41	3	720	3	MKKS	20	10389433	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		10389433	52636087	276	21543											
DEFB119	245932	genome.wustl.edu	37	chr20	29976958	29976958	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaacacagcaccgtttaCgatttcggcagcgtatgatg	11	10	11	9	4	0	1	0	1	0	0	1	3	0	2	1	2	4	4	1	2	4	5	rs375754726		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr20:29976958C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000376315.2_Missense_Mutation_p.R46H|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000339144.3_Intron	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCACCGTTTACGATTTCGGCA	0.458																																																	0								C	,HIS/ARG,	1,4405	2.1+/-5.4	0,1,2202	210	179	189		,137,	1.8	0.1	20		189	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	DEFB119	NM_153289.2,NM_153323.3,NM_173460.1	,29,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	,46/89,	29976958	2,13004	2203	4300	6503	SO:0001627	intron_variant	0			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"Defensins, beta"	18099	protein-coding gene	gene with protein product			"defensin, beta 120"	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1267G>A	20.37:g.29976958C>T			Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	superfamily_Scorpion_toxin-like	p.R46H	ENST00000376321.3	37	c.137	CCDS13178.1	20	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167093	0.78339	2.27E-4	1.16E-4	ENSG00000180483	ENST00000376315	T	0.11604	2.76	3.71	1.75	0.24633	.	1.479110	0.04294	N	0.346186	T	0.08268	0.0206	.	.	.	0.09310	N	1	B	0.29232	0.238	B	0.21151	0.033	T	0.32613	-0.9900	9	0.49607	T	0.09	-15.7844	5.3328	0.15942	0.0:0.7323:0.0:0.2677	.	46	Q8N690-2	.	H	46	ENSP00000365492:R46H	ENSP00000365492:R46H	R	-	2	0	DEFB119	29440619	0.935000	0.31712	0.112000	0.21494	0.983000	0.72400	0.842000	0.27627	0.538000	0.28769	0.563000	0.77884	CGT	DEFB119	-	superfamily_Scorpion_toxin-like	ENSG00000180483		0.458	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB119	HGNC	protein_coding	OTTHUMT00000078514.1		0	76	0	C	NM_153289		29976958	-1			no_errors	ENST00000376315	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.156	T	T	29976958	C	T	29976958	1	4	81	0	1	0	0	0	0	0	0	0	4420	536	19	1		1	DEFB119	20	29976958	Intron	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	19587525	29976958	33048562	277	21544											
MOCS3	8813	genome.wustl.edu	37	chr20	49575380	49575380	+	5'Flank	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttccggaagaggtcgccAtggcttcccgggaggaggta	9	7	15	10	3	0	1	0	0	0	1	3	4	2	4	3	6	1	2	3	6	3	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr20:49575380A>G	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|MOCS3_ENST00000244051.1_Start_Codon_SNP_p.M1V|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGAGGTCGCCATGGCTTCCCG	0.517																																																	0													43	41	42					20																	49575380		2128	4178	6306	SO:0001631	upstream_gene_variant	0			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49575380A>G	Exception_encountered		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.M1V	ENST00000371588.5	37	c.1	CCDS13434.1	20	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107745	0.37242	.	.	ENSG00000124217	ENST00000244051	T	0.70749	-0.51	5.25	4.14	0.48551	.	0.000000	0.64402	D	0.000011	T	0.51550	0.1681	.	.	.	0.80722	D	1	B	0.30914	0.3	B	0.26094	0.066	T	0.43228	-0.9404	8	.	.	.	-37.8743	5.8404	0.18630	0.7705:0.0:0.0799:0.1497	.	1	O95396	MOCS3_HUMAN	V	1	ENSP00000244051:M1V	.	M	+	1	0	MOCS3	49008787	1.000000	0.71417	0.896000	0.35187	0.072000	0.16883	2.906000	0.48735	1.089000	0.41292	0.533000	0.62120	ATG	MOCS3	-	NULL	ENSG00000124217		0.517	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCS3	HGNC	protein_coding	OTTHUMT00000079716.1	-	0	18	0	A	NM_003859		49575380	1	tier1	-	no_errors	ENST00000244051	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.932	G	G	49575380	A	G	49575380	1	3	81	0	1	0	0	0	0	0	0	0	9730	217	8	4		4	MOCS3	20	49575380	5'Flank	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	19598422	49575380	13450140	278	21545											
CASS4	57091	genome.wustl.edu	37	chr20	55012496	55012496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtgcccactctacccCgccctcccactccaggcccc	6	6	6	23	1	2	0	1	0	1	0	4	0	4	0	8	2	2	0	8	2	1	1	rs199573867	byFrequency	TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr20:55012496C>T	ENST00000360314.3	+	3	538	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	CASS4_ENST00000371336.3_Missense_Mutation_p.R105C|CASS4_ENST00000434344.1_Missense_Mutation_p.R105C	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	105					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)	p.R105C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CACTCTACCCCGCCCTCCCAC	0.647													C|||	2	0.000399361	0	0	5008	,	,		16036	0.001		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	endometrium(1)											37	43	41					20																	55012496		2203	4300	6503	SO:0001583	missense	0			AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"Cas scaffolding proteins"	15878	protein-coding gene	gene with protein product	"HEF-like protein", "HEF1-Efs-p130Cas-like"		"chromosome 20 open reading frame 32"	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.313C>T	20.37:g.55012496C>T	ENSP00000353462:p.Arg105Cys		E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R105C	ENST00000360314.3	37	c.313	CCDS33492.1	20	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.89	1.477417	0.26511	.	.	ENSG00000087589	ENST00000360314;ENST00000371336;ENST00000434344	T;T;T	0.21191	2.53;2.53;2.02	5.57	-0.473	0.12112	.	2.871980	0.01246	N	0.008757	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	1	P;B;B	0.45078	0.85;0.001;0.001	B;B;B	0.40782	0.34;0.0;0.0	T	0.05022	-1.0911	10	0.51188	T	0.08	4.5031	1.7647	0.02999	0.3212:0.3004:0.0742:0.3041	.	105;105;105	Q9NQ75-3;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	C	105	ENSP00000353462:R105C;ENSP00000360387:R105C;ENSP00000410027:R105C	ENSP00000353462:R105C	R	+	1	0	CASS4	54445903	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.686000	0.25392	-0.685000	0.05177	-0.797000	0.03246	CGC	CASS4	-	NULL	ENSG00000087589		0.647	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASS4	HGNC	protein_coding	OTTHUMT00000079789.2		0	45	0	C	NM_020356		55012496	1			no_errors	ENST00000360314	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	T	T	55012496	C	T	55012496	3	4	81	1	0	0	0	0	1	0	0	0	2690	652	23	1	319	1	CASS4	20	55012496	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	5437116	55012496	8013024	279	21546											
HRH3	11255	genome.wustl.edu	37	chr20	60791867	60791867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggggatggagctgcccccgGacaggtactcccagctcagg	7	5	15	14	2	1	0	1	0	0	0	2	3	2	3	3	6	4	3	3	6	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr20:60791867G>A	ENST00000340177.5	-	3	817	c.533C>T	c.(532-534)tCc>tTc	p.S178F	HRH3_ENST00000317393.6_Missense_Mutation_p.S178F	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	178					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GCTGCCCCCGGACAGGTACTC	0.622																																																	0													56	51	52					20																	60791867		2203	4300	6503	SO:0001583	missense	0			AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"GPCR / Class A : Histamine receptors"	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.533C>T	20.37:g.60791867G>A	ENSP00000342560:p.Ser178Phe		Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	p.S178F	ENST00000340177.5	37	c.533	CCDS13493.1	20	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866353	0.71949	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.37584	1.19;1.19	4.53	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.203559	0.43919	D	0.000503	T	0.53498	0.1800	L	0.55017	1.72	0.44289	D	0.997152	D;D;P;D	0.59767	0.985;0.986;0.952;0.984	P;P;P;P	0.61874	0.693;0.895;0.837;0.884	T	0.56866	-0.7908	10	0.56958	D	0.05	-35.4727	17.606	0.88037	0.0:0.0:1.0:0.0	.	178;178;178;178	Q9Y5N1-2;E7EWA7;Q8WXZ9;Q9Y5N1	.;.;.;HRH3_HUMAN	F	178	ENSP00000342560:S178F;ENSP00000321482:S178F	ENSP00000321482:S178F	S	-	2	0	HRH3	60225262	1.000000	0.71417	0.921000	0.36526	0.898000	0.52572	5.199000	0.65152	2.208000	0.71279	0.407000	0.27541	TCC	HRH3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_Musac_Ach_rcpt	ENSG00000101180		0.622	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH3	HGNC	protein_coding	OTTHUMT00000079994.1	-	0	23	0	G	NM_007232		60791867	-1	tier1	-	no_errors	ENST00000317393	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.996	A	A	60791867	G	A	60791867	3	1	81	1	0	0	0	0	1	0	0	0	7384	1174	41	3	808	3	HRH3	20	60791867	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	5779371	60791867	2233653	280	21547											
ADRM1	11047	genome.wustl.edu	37	chr20	60882437	60882437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctcgcaggtgggctgggGgccctgactggacctggcct	3	7	16	15	1	0	1	0	1	0	0	1	2	0	2	5	6	0	2	5	6	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr20:60882437G>A	ENST00000253003.2	+	6	598	c.552G>A	c.(550-552)ggG>ggA	p.G184G	LAMA5_ENST00000492698.1_5'Flank|RP11-157P1.4_ENST00000414042.1_RNA	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	184	Gly-rich.				positive regulation of endopeptidase activity (GO:0010950)|proteasome assembly (GO:0043248)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|protease binding (GO:0002020)|proteasome binding (GO:0070628)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GTGGGCTGGGGGCCCTGACTG	0.667																																																	0													30	31	31					20																	60882437		2197	4297	6494	SO:0001819	synonymous_variant	0			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706			15759	protein-coding gene	gene with protein product		610650				8033103	Standard	NM_007002		Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.552G>A	20.37:g.60882437G>A			A0PKB1|Q96FJ7|Q9H1P2	Silent	SNP	pfam_26S_Psome_Ubiquitin-recp_Rpn13	p.G184	ENST00000253003.2	37	c.552	CCDS13496.1	20																																																																																			ADRM1	-	pfam_26S_Psome_Ubiquitin-recp_Rpn13	ENSG00000130706		0.667	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRM1	HGNC	protein_coding	OTTHUMT00000080007.1	-	0	137	0	G			60882437	1	tier1	-	no_errors	ENST00000253003	ensembl	human	known	74_37	silent	8.60	85	8	SNP	1.000	A	A	60882437	G	A	60882437	2	1	81	1	0	0	0	0	0	0	0	1	345	1219	43	3		3	ADRM1	20	60882437	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	90570	60882437	2143083	281	21548											
ZBTB46	140685	genome.wustl.edu	37	chr20	62422008	62422008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgccctccacgaccaCgcagacgtcgcacaggacgc	9	4	10	18	5	0	1	0	0	0	1	2	4	1	2	4	1	1	2	4	1	0	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr20:62422008C>T	ENST00000245663.4	-	2	253	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000395104.1_Missense_Mutation_p.V35M|ZBTB46_ENST00000302995.2_Missense_Mutation_p.V35M	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	35	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TCCACGACCACGCAGACGTCG	0.602																																																	0													70	55	60					20																	62422008		2203	4300	6503	SO:0001583	missense	0			AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	16094	protein-coding gene	gene with protein product	"BTB-ZF protein expressed in effector lymphocytes"	614639	"BTB (POZ) domain containing 4"	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.103G>A	20.37:g.62422008C>T	ENSP00000245663:p.Val35Met		E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V35M	ENST00000245663.4	37	c.103	CCDS13538.1	20	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828667	0.32329	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.72394	-0.65;-0.65;-0.65	5.39	2.05	0.26809	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.139101	0.48286	D	0.000190	T	0.80660	0.4665	M	0.87381	2.88	0.25276	N	0.989477	D	0.59767	0.986	D	0.63283	0.913	T	0.70185	-0.4941	10	0.87932	D	0	.	5.3129	0.15841	0.0:0.4663:0.0:0.5337	.	35	Q86UZ6	ZBT46_HUMAN	M	35	ENSP00000245663:V35M;ENSP00000303102:V35M;ENSP00000378536:V35M	ENSP00000245663:V35M	V	-	1	0	ZBTB46	61892452	0.969000	0.33509	0.005000	0.12908	0.004000	0.04260	2.118000	0.41949	0.666000	0.31087	-0.150000	0.13652	GTG	ZBTB46	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000130584		0.602	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	HGNC	protein_coding	OTTHUMT00000080232.2		0	18	0	C	NM_025224		62422008	-1			no_errors	ENST00000245663	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.219	T	T	62422008	C	T	62422008	3	4	81	1	0	0	0	0	1	0	0	0	17595	536	19	1	1682	1	ZBTB46	20	62422008	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	1539571	62422008	603512	282	21549											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19685373	19685373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactaaaccattgttgttcGttgtgccattgaaaaaacgc	12	12	8	9	2	0	1	0	1	0	0	1	1	0	1	2	0	3	4	2	0	5	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr21:19685373G>A	ENST00000284885.3	-	18	2087	c.2054C>T	c.(2053-2055)aCg>aTg	p.T685M		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	685	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATTGTTGTTCGTtgtgccatt	0.443																																																	0													130	114	120					21																	19685373		2203	4300	6503	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2054C>T	21.37:g.19685373G>A	ENSP00000284885:p.Thr685Met		Q2NKL7	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.T685M	ENST00000284885.3	37	c.2054	CCDS13571.1	21	.	.	.	.	.	.	.	.	.	.	g	0.063	-1.218729	0.01542	.	.	ENSG00000154646	ENST00000284885	T	0.30182	1.54	5.71	-11.4	0.00090	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.755870	0.02854	N	0.129460	T	0.12347	0.0300	N	0.15975	0.35	0.09310	N	1	B	0.16603	0.018	B	0.12837	0.008	T	0.14090	-1.0485	9	.	.	.	.	2.6936	0.05127	0.5408:0.1996:0.0686:0.191	.	685	P98073	ENTK_HUMAN	M	685	ENSP00000284885:T685M	.	T	-	2	0	TMPRSS15	18607244	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-3.937000	0.00330	-4.286000	0.00059	-2.029000	0.00425	ACG	TMPRSS15	-	pfam_SRCR,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000154646		0.443	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	-	0	62	0	G	NM_002772		19685373	-1	tier1	-	no_errors	ENST00000284885	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.000	A	A	19685373	G	A	19685373	3	1	81	1	0	0	0	0	1	0	0	0	16293	1145	40	1	1037	1	TMPRSS15	21	19685373	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09		19685373	28444522	283	21550											
TTC3	7267	genome.wustl.edu	37	chr21	38460554	38460554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgcaagattattgCgatgccattaaaataaacat	14	13	6	8	1	1	1	0	0	1	1	2	2	2	1	2	0	4	1	2	0	6	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr21:38460554C>T	ENST00000399017.2	+	4	2993	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Silent_p.C82C|TTC3_ENST00000355666.1_Silent_p.C82C|TTC3_ENST00000354749.2_Silent_p.C82C	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	82					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C82C(1)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGATTATTGCGATGCCATTA	0.343																																					Ovarian(38;194 1649 35661)												1	Substitution - coding silent(1)	endometrium(1)											91	81	84					21																	38460554		2203	4300	6503	SO:0001819	synonymous_variant	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.246C>T	21.37:g.38460554C>T			A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.C82	ENST00000399017.2	37	c.246	CCDS13651.1	21																																																																																			TTC3	-	NULL	ENSG00000182670		0.343	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	-	0	57	0	C			38460554	1	tier1	-	no_errors	ENST00000354749	ensembl	human	known	74_37	silent	41.94	18	13	SNP	1.000	T	T	38460554	C	T	38460554	2	4	81	1	0	0	0	0	0	0	0	1	16746	776	27	1		1	TTC3	21	38460554	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	18775181	38460554	9669341	284	21551											
KRTAP10-9	386676	genome.wustl.edu	37	chr21	46047294	46047294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcccagcccctgccaatCaggctgcaccagctcctgca	8	6	9	18	0	1	1	1	1	0	0	2	1	2	1	6	1	6	4	6	1	1	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr21:46047294C>T	ENST00000397911.3	+	1	255	c.206C>T	c.(205-207)tCa>tTa	p.S69L	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	69	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCCTGCCAATCAGGCTGCACC	0.701																																																	0													53	64	60					21																	46047294		2194	4292	6486	SO:0001583	missense	0			AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"Keratin associated proteins"	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.206C>T	21.37:g.46047294C>T	ENSP00000381009:p.Ser69Leu		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	NULL	p.S69L	ENST00000397911.3	37	c.206	CCDS42961.1	21	.	.	.	.	.	.	.	.	.	.	c	6.339	0.430610	0.12045	.	.	ENSG00000221837	ENST00000397911	T	0.00801	5.68	3.27	2.35	0.29111	.	.	.	.	.	T	0.01976	0.0062	M	0.89214	3.015	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.35599	-0.9782	8	.	.	.	.	4.8272	0.13421	0.0:0.7192:0.0:0.2808	.	69	P60411	KR109_HUMAN	L	69	ENSP00000381009:S69L	.	S	+	2	0	KRTAP10-9	44871722	0.002000	0.14202	0.006000	0.13384	0.006000	0.05464	1.510000	0.35790	1.530000	0.49136	0.603000	0.83216	TCA	KRTAP10-9	-	NULL	ENSG00000221837		0.701	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-9	HGNC	protein_coding	OTTHUMT00000128040.1	-	0	257	0	C			46047294	1	tier1	-	no_errors	ENST00000397911	ensembl	human	known	74_37	missense	7.69	84	7	SNP	0.001	T	T	46047294	C	T	46047294	3	4	81	1	0	0	0	0	1	0	0	0	8543	838	29	3	208	3	KRTAP10-9	21	46047294	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	7586740	46047294	2082601	285	21552											
ADRBK2	157	genome.wustl.edu	37	chr22	26074809	26074809	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaaatgcttagataagaAgaggatcaaaatgaaacaag	22	7	9	3	0	1	5	1	2	0	3	1	6	1	6	0	1	2	1	0	1	9	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr22:26074809A>C	ENST00000324198.6	+	9	866	c.674A>C	c.(673-675)aAg>aCg	p.K225T		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TTAGATAAGAAGAGGATCAAA	0.299																																																	0													105	98	100					22																	26074809		2203	4300	6503	SO:0001583	missense	0			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.674A>C	22.37:g.26074809A>C	ENSP00000317578:p.Lys225Thr		Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.K225T	ENST00000324198.6	37	c.674	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539949	0.85917	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.66460	-0.21	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058655	0.64402	D	0.000003	T	0.72309	0.3444	L	0.36672	1.1	0.80722	D	1	P;P	0.47545	0.897;0.671	P;P	0.59948	0.866;0.824	T	0.75462	-0.3309	10	0.87932	D	0	-31.2677	14.347	0.66672	1.0:0.0:0.0:0.0	.	225;225	A8K869;P35626	.;ARBK2_HUMAN	T	225	ENSP00000317578:K225T	ENSP00000317578:K225T	K	+	2	0	ADRBK2	24404809	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.309000	0.89969	2.175000	0.68902	0.533000	0.62120	AAG	ADRBK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000100077		0.299	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4	-	0	35	0	A	NM_005160		26074809	1	tier1	-	no_errors	ENST00000324198	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	C	C	26074809	A	C	26074809	3	2	81	1	0	0	0	0	1	0	0	0	344	72	3	4	708	4	ADRBK2	22	26074809	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09		26074809	25229757	286	21553											
ISX	91464	genome.wustl.edu	37	chr22	35481479	35481479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatccactgctctgcgcagGctggctcctcccacgagctg	6	8	10	17	2	1	0	0	0	1	0	4	1	4	0	3	2	3	5	3	2	0	0	rs557242882		TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr22:35481479G>A	ENST00000308700.6	+	4	1483	c.531G>A	c.(529-531)agG>agA	p.R177R	ISX_ENST00000404699.2_Silent_p.R177R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	177					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CTCTGCGCAGGCTGGCTCCTC	0.607																																																	0													134	118	123					22																	35481479		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.531G>A	22.37:g.35481479G>A			Q68DJ5	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R177	ENST00000308700.6	37	c.531	CCDS33640.1	22																																																																																			ISX	-	NULL	ENSG00000175329		0.607	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISX	HGNC	protein_coding	OTTHUMT00000320662.1	-	0	37	0	G	NM_001008494		35481479	1	tier1	-	no_errors	ENST00000308700	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.000	A	A	35481479	G	A	35481479	2	1	81	1	0	0	0	0	0	0	0	1	7892	1194	42	3		3	ISX	22	35481479	Silent	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	9406670	35481479	15823087	287	21554											
TRIOBP	11078	genome.wustl.edu	37	chr22	38120335	38120335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagagcctcctctcccaAtagagctacacgagacaacc	12	6	6	17	1	1	3	0	0	1	3	4	4	3	3	5	0	4	1	5	0	4	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr22:38120335A>G	ENST00000406386.3	+	7	2027	c.1772A>G	c.(1771-1773)aAt>aGt	p.N591S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	591					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.N591S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTCTCCCAATAGAGCTACA	0.577																																																	1	Substitution - Missense(1)	skin(1)											119	176	158					22																	38120335		1965	4179	6144	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1772A>G	22.37:g.38120335A>G	ENSP00000384312:p.Asn591Ser		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N591S	ENST00000406386.3	37	c.1772	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	-	1.813	-0.474278	0.04414	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.18960	2.18	2.74	-1.14	0.09741	.	.	.	.	.	T	0.10723	0.0262	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.40515	-0.9559	9	0.09084	T	0.74	.	2.6614	0.05028	0.4721:0.0:0.1285:0.3994	.	591	Q9H2D6	TARA_HUMAN	S	591	ENSP00000384312:N591S	ENSP00000384312:N591S	N	+	2	0	TRIOBP	36450281	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.442000	0.06871	-0.530000	0.06349	-2.173000	0.00322	AAT	TRIOBP	-	NULL	ENSG00000100106		0.577	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2		0	364	0	A			38120335	1			no_errors	ENST00000406386	ensembl	human	known	74_37	missense	5.30	125	7	SNP	0.002	G	G	38120335	A	G	38120335	3	3	81	1	0	0	0	0	1	0	0	0	16601	101	4	4	1790	4	TRIOBP	22	38120335	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	2638856	38120335	13184231	288	21555											
ENTHD1	150350	genome.wustl.edu	37	chr22	40231918	40231918	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtttctgtaggcaaatgaAcatcttggcaatgctcttgt	10	15	9	7	0	3	1	0	1	3	0	3	1	3	1	0	2	2	5	0	2	5	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr22:40231918A>T	ENST00000325157.6	-	4	888	c.638T>A	c.(637-639)gTt>gAt	p.V213D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	213								p.V213D(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGGCAAATGAACATCTTGGCA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											292	268	276					22																	40231918		2203	4300	6503	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.638T>A	22.37:g.40231918A>T	ENSP00000317431:p.Val213Asp		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.V213D	ENST00000325157.6	37	c.638	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	A	5.543	0.285126	0.10513	.	.	ENSG00000176177	ENST00000325157	T	0.51325	0.71	5.65	-0.269	0.12930	.	2.100850	0.01697	N	0.026946	T	0.33440	0.0863	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.20384	0.029	T	0.13899	-1.0492	10	0.37606	T	0.19	1.2567	5.3282	0.15918	0.5353:0.1449:0.3198:0.0	.	213	Q8IYW4	ENTD1_HUMAN	D	213	ENSP00000317431:V213D	ENSP00000317431:V213D	V	-	2	0	ENTHD1	38561864	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.238000	0.02919	-0.428000	0.07339	-0.491000	0.04670	GTT	ENTHD1	-	NULL	ENSG00000176177		0.373	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1		0	87	0	A	NM_152512		40231918	-1			no_errors	ENST00000325157	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	40231918	A	T	40231918	3	4	81	1	0	0	0	0	1	0	0	0	5153	43	2	5	1201	5	ENTHD1	22	40231918	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	2111583	40231918	11072648	289	21556											
XRCC6	2547	genome.wustl.edu	37	chr22	42032238	42032238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatatttacgtcttacAggagctggataatccaggtc	14	12	8	7	1	1	0	0	0	1	0	3	2	2	2	1	3	3	1	1	3	7	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chr22:42032238A>G	ENST00000359308.4	+	3	972	c.317A>G	c.(316-318)cAg>cGg	p.Q106R	XRCC6_ENST00000402580.3_Splice_Site|XRCC6_ENST00000428575.2_5'UTR|XRCC6_ENST00000405506.1_Missense_Mutation_p.Q56R|XRCC6_ENST00000360079.3_Missense_Mutation_p.Q106R|XRCC6_ENST00000405878.1_Missense_Mutation_p.Q106R			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	106					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TACGTCTTACAGGAGCTGGAT	0.368								Non-homologous end-joining																																									0													48	50	49					22																	42032238		2203	4300	6503	SO:0001583	missense	0			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"Ku autoantigen, 70kDa"	152690	"thyroid autoantigen 70kD (Ku antigen)", "thyroid autoantigen 70kDa (Ku antigen)"	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.317A>G	22.37:g.42032238A>G	ENSP00000352257:p.Gln106Arg		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Splice_Site	SNP	-	e3-2	ENST00000359308.4	37	c.196-2	CCDS14021.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.434766|4.434766	0.83885|0.83885	.|.	.|.	ENSG00000196419|ENSG00000196419	ENST00000402580|ENST00000360079;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Ku70/Ku80, N-terminal alpha/beta (1);	.|0.112509	.|0.64402	.|D	.|0.000010	.|T	.|0.77811	.|0.4186	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.54207	.|0.965;0.929;0.929	.|D;D;D	.|0.79108	.|0.992;0.989;0.987	.|T	.|0.75124	.|-0.3428	.|9	.|0.09084	.|T	.|0.74	.|-18.911	15.9958|15.9958	0.80243|0.80243	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|56;106;106	.|B1AHC9;B1AHC7;P12956	.|.;.;XRCC6_HUMAN	.|R	-1|106;106;106;106;56	.|.	.|ENSP00000352257:Q106R	.|Q	+|+	.|2	.|0	XRCC6|XRCC6	40362184|40362184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.415000|8.415000	0.90241|0.90241	2.188000|2.188000	0.69820|0.69820	0.533000|0.533000	0.62120|0.62120	.|CAG	XRCC6	-	-	ENSG00000196419		0.368	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	-	0	81	0	A	NM_001469		42032238	1	tier1	-	no_errors	ENST00000402580	ensembl	human	novel	74_37	splice_site	10.53	34	4	SNP	1.000	G	G	42032238	A	G	42032238	3	3	81	1	0	0	0	0	1	0	0	0	17506	188	7	4	327	4	XRCC6	22	42032238	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1800320	42032238	9272328	290	21557											
P2RY8	286530	genome.wustl.edu	37	chrX	1584751	1584751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggccaggcccaccgcgCgcctccgctgctcccggccg	2	3	13	23	8	0	0	0	0	0	0	2	0	2	0	8	3	1	2	8	3	0	0			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:1584751C>T	ENST00000381297.4	-	2	911	c.701G>A	c.(700-702)cGc>cAc	p.R234H	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACCGCGCGCCTCCGCTG	0.657			T	CRLF2	"B-ALL, Downs associated ALL"								c|||	1	0.000199681	0	0	5008	,	,		16692	0		0	False		,,,				2504	0.001							Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0													45	37	40					X																	1584751		2201	4293	6494	SO:0001583	missense	0			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.701G>A	X.37:g.1584751C>T	ENSP00000370697:p.Arg234His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.R234H	ENST00000381297.4	37	c.701	CCDS14115.1	X	.	.	.	.	.	.	.	.	.	.	c	13.41	2.228024	0.39399	.	.	ENSG00000182162	ENST00000381297	T	0.43688	0.94	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.077802	0.49305	U	0.000143	T	0.58090	0.2098	L	0.58428	1.81	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.53027	-0.8496	10	0.87932	D	0	.	13.5149	0.61535	0.0:1.0:0.0:0.0	.	234	Q86VZ1	P2RY8_HUMAN	H	234	ENSP00000370697:R234H	ENSP00000370697:R234H	R	-	2	0	P2RY8	1544751	0.884000	0.30299	0.136000	0.22124	0.586000	0.36452	3.326000	0.52037	1.007000	0.39238	0.279000	0.19357	CGC	P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182162		0.657	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	-	0	60	0	C	NM_178129		1584751	-1	tier1	-	no_errors	ENST00000381297	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.886	T	T	1584751	C	T	1584751	3	4	81	1	0	0	0	0	1	0	0	0	11394	768	27	1	382	1	P2RY8	23	1584751	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09		1584751	153685809	291	21558											
MAOB	4129	genome.wustl.edu	37	chrX	43702992	43702992	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtccagagtcatgcagaAgtttggctgctgccatacct	9	11	10	11	0	2	2	2	0	0	2	3	2	3	2	3	1	4	4	3	1	2	2			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:43702992A>C	ENST00000378069.4	-	2	212	c.65T>G	c.(64-66)cTt>cGt	p.L22R	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.L6R|MAOB_ENST00000538942.1_Missense_Mutation_p.L6R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	22					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GTCATGCAGAAGTTTGGCTGC	0.493																																																	0													79	65	69					X																	43702992		2203	4300	6503	SO:0001583	missense	0				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.65T>G	X.37:g.43702992A>C	ENSP00000367309:p.Leu22Arg		B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.L22R	ENST00000378069.4	37	c.65	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	A	24.8	4.576257	0.86645	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.91945	-2.94;-2.94;-2.94	5.54	5.54	0.83059	Amine oxidase (1);	0.000000	0.85682	D	0.000000	D	0.93851	0.8033	L	0.51914	1.62	0.80722	D	1	D;D;D	0.76494	0.993;0.997;0.999	D;D;D	0.78314	0.939;0.961;0.991	D	0.91797	0.5448	10	0.16420	T	0.52	-15.6823	14.7116	0.69238	1.0:0.0:0.0:0.0	.	6;22;22	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	R	22;6;6	ENSP00000367309:L22R;ENSP00000441613:L6R;ENSP00000442240:L6R	ENSP00000367309:L22R	L	-	2	0	MAOB	43587936	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.454000	0.90352	1.855000	0.53841	0.486000	0.48141	CTT	MAOB	-	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	ENSG00000069535		0.493	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	-	0	26	0	A	NM_000898		43702992	-1	tier1	-	no_errors	ENST00000378069	ensembl	human	known	74_37	missense	53.33	7	8	SNP	1.000	C	C	43702992	A	C	43702992	3	2	81	1	0	0	0	0	1	0	0	0	9264	72	3	4	1553	4	MAOB	23	43702992	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	42118241	43702992	111567568	292	21559											
KDM6A	7403	genome.wustl.edu	37	chrX	44941852	44941852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaagtcatcataaagAccactcagatagtgaatcta	20	8	6	7	0	4	4	3	1	1	3	4	4	4	4	1	0	0	0	1	0	8	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:44941852A>T	ENST00000377967.4	+	21	3217	c.3176A>T	c.(3175-3177)gAc>gTc	p.D1059V	KDM6A_ENST00000382899.4_Missense_Mutation_p.D1066V|KDM6A_ENST00000543216.1_Missense_Mutation_p.D980V|KDM6A_ENST00000536777.1_Missense_Mutation_p.D1014V	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1059	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CATCATAAAGACCACTCAGAT	0.328			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											104	95	98					X																	44941852		2203	4300	6503	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3176A>T	X.37:g.44941852A>T	ENSP00000367203:p.Asp1059Val		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D1066V	ENST00000377967.4	37	c.3197	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.86|13.86	2.361658|2.361658	0.41801|0.41801	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.78003|.	-1.14;-1.14;-1.14;-1.14|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.150423|.	0.64402|.	D|.	0.000020|.	T|T	0.60444|0.60444	0.2269|0.2269	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	B;P;P;B;P|.	0.48911|.	0.001;0.852;0.917;0.286;0.628|.	B;P;P;B;B|.	0.53722|.	0.001;0.474;0.733;0.12;0.42|.	T|T	0.57670|0.57670	-0.7771|-0.7771	10|5	0.87932|.	D|.	0|.	-2.3728|-2.3728	14.6404|14.6404	0.68720|0.68720	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	698;1066;1014;1111;1059|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	V|S	756;1059;1014;1066;980|656;701	ENSP00000367203:D1059V;ENSP00000437405:D1014V;ENSP00000372355:D1066V;ENSP00000443078:D980V|.	ENSP00000334340:D756V|.	D|R	+|+	2|3	0|2	KDM6A|KDM6A	44826796|44826796	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.927000|0.927000	0.56198|0.56198	7.165000|7.165000	0.77544|0.77544	1.838000|1.838000	0.53458|0.53458	0.437000|0.437000	0.28790|0.28790	GAC|AGA	KDM6A	-	NULL	ENSG00000147050		0.328	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0	80	0	A	NM_021140		44941852	1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	T	T	44941852	A	T	44941852	3	4	81	1	0	0	0	0	1	0	0	0	8164	275	10	5	3258	5	KDM6A	23	44941852	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	1238860	44941852	110328708	293	21560											
USP11	8237	genome.wustl.edu	37	chrX	47104088	47104088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgtcctagaagatgaCgaggaggataaagatgacgt	13	8	12	8	2	0	5	0	2	0	3	2	8	2	7	3	2	0	0	3	2	4	2	rs144034150	byFrequency	TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:47104088C>T	ENST00000218348.3	+	15	1980	c.1980C>T	c.(1978-1980)gaC>gaT	p.D660D	USP11_ENST00000377107.2_Silent_p.D617D	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	660	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.D660D(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TAGAAGATGACGAGGAGGATA	0.582																																																	1	Substitution - coding silent(1)	breast(1)						C		0,3834		0,0,0,1632,570	25	19	21		1980	-3.7	0	X	dbSNP_134	21	1,6726		0,0,1,2428,1870	no	coding-synonymous	USP11	NM_004651.3		0,0,1,4060,2440	TT,TC,T,CC,C		0.0149,0.0,0.0095		660/964	47104088	1,10560	2202	4299	6501	SO:0001819	synonymous_variant	0			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1980C>T	X.37:g.47104088C>T			B2RTX1|Q8IUG6|Q9BWE1	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.D660	ENST00000218348.3	37	c.1980	CCDS14277.1	X																																																																																			USP11	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000102226		0.582	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		-	0	27	0	C	NM_004651		47104088	1	tier1	rs144034150	no_errors	ENST00000218348	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.000	T	T	47104088	C	T	47104088	2	4	81	1	0	0	0	0	0	0	0	1	17091	535	19	1		1	USP11	23	47104088	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2162236	47104088	108166472	294	21561											
MAGED1	9500	genome.wustl.edu	37	chrX	51644891	51644891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagaattccatttaccttCtgggccagataccaccagaa	12	10	6	13	0	1	3	0	0	1	3	3	3	3	3	6	1	2	0	6	1	4	5			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:51644891C>T	ENST00000375722.1	+	12	2454	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F	MAGED1_ENST00000326587.7_Silent_p.F734F|MAGED1_ENST00000375695.2_Silent_p.F790F|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Silent_p.F734F			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	734					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTTACCTTCTGGGCCAGAT	0.547										Multiple Myeloma(10;0.10)																																							0													90	87	88					X																	51644891		2203	4300	6503	SO:0001819	synonymous_variant	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.2202C>T	X.37:g.51644891C>T			Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.F790	ENST00000375722.1	37	c.2370	CCDS14337.1	X																																																																																			MAGED1	-	NULL	ENSG00000179222		0.547	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	-	0	35	0	C	NM_001005332		51644891	1	tier1	-	no_errors	ENST00000375695	ensembl	human	known	74_37	silent	62.50	9	15	SNP	1.000	T	T	51644891	C	T	51644891	2	4	81	1	0	0	0	0	0	0	0	1	9221	912	32	3		3	MAGED1	23	51644891	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	4540803	51644891	103625669	295	21562											
FAM120C	54954	genome.wustl.edu	37	chrX	54117833	54117833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcatggcgatgcaggattCggccaccaggccactgaacc	9	6	12	14	2	1	1	1	1	0	0	2	3	1	2	4	4	2	2	4	4	1	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:54117833C>T	ENST00000375180.2	-	11	2395	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q	FAM120C_ENST00000328235.4_Missense_Mutation_p.R780Q	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	780							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATGCAGGATTCGGCCACCAGG	0.443																																																	0													106	81	89					X																	54117833		2203	4300	6503	SO:0001583	missense	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"chromosome X open reading frame 17"	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.2339G>A	X.37:g.54117833C>T	ENSP00000364324:p.Arg780Gln		B2RMT7	Missense_Mutation	SNP	NULL	p.R780Q	ENST00000375180.2	37	c.2339	CCDS14356.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.113833	0.94339	.	.	ENSG00000184083	ENST00000375180;ENST00000328235	T;T	0.47869	0.83;0.83	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.44542	1.39	0.80722	D	1	D;D	0.60575	0.988;0.98	P;P	0.48304	0.573;0.573	T	0.44221	-0.9342	10	0.35671	T	0.21	-6.3599	16.259	0.82532	0.0:1.0:0.0:0.0	.	780;780	F8W881;Q9NX05	.;F120C_HUMAN	Q	780	ENSP00000364324:R780Q;ENSP00000329896:R780Q	ENSP00000329896:R780Q	R	-	2	0	FAM120C	54134558	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.578000	0.60929	2.171000	0.68590	0.600000	0.82982	CGA	FAM120C	-	NULL	ENSG00000184083		0.443	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	-	0	42	0	C	NM_017848		54117833	-1	tier1	-	no_errors	ENST00000375180	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	54117833	C	T	54117833	3	4	81	1	0	0	0	0	1	0	0	0	5437	884	31	1	975	1	FAM120C	23	54117833	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	2472942	54117833	101152727	296	21563											
MAGEE2	139599	genome.wustl.edu	37	chrX	75004002	75004002	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcagtcaggcttctttcTttggttttgtcaccttccag	5	16	8	12	0	4	0	2	0	2	0	5	0	5	0	3	2	1	3	3	2	0	6			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:75004002T>G	ENST00000373359.2	-	1	1077	c.885A>C	c.(883-885)aaA>aaC	p.K295N		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	295										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTTCTTTCTTTGGTTTTGT	0.463																																																	0													69	65	66					X																	75004002		2203	4300	6503	SO:0001583	missense	0			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.885A>C	X.37:g.75004002T>G	ENSP00000362457:p.Lys295Asn		Q5JSI5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.K295N	ENST00000373359.2	37	c.885	CCDS14431.1	X	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507363	0.44558	.	.	ENSG00000186675	ENST00000373359	T	0.04083	3.71	2.9	2.9	0.33743	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.27528	N	0.951186	D	0.69078	0.997	P	0.60682	0.878	T	0.40515	-0.9559	9	0.35671	T	0.21	.	6.6749	0.23087	0.0:0.0:0.0:1.0	.	295	Q8TD90	MAGE2_HUMAN	N	295	ENSP00000362457:K295N	ENSP00000362457:K295N	K	-	3	2	MAGEE2	74920727	1.000000	0.71417	0.925000	0.36789	0.814000	0.46013	2.128000	0.42045	1.376000	0.46267	0.345000	0.21793	AAA	MAGEE2	-	NULL	ENSG00000186675		0.463	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	-	0	28	0	T	NM_138703		75004002	-1	tier1	-	no_errors	ENST00000373359	ensembl	human	known	74_37	missense	57.14	9	12	SNP	0.925	G	G	75004002	T	G	75004002	3	3	81	1	0	0	0	0	1	0	0	0	9224	1606	56	4	690	4	MAGEE2	23	75004002	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	20886169	75004002	80266558	297	21564											
MAGEE1	57692	genome.wustl.edu	37	chrX	75650471	75650471	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggcccttttttgaggaAgctgctgcagaggtaccatc	9	10	13	9	0	0	2	0	1	0	1	1	4	0	4	2	4	4	4	2	4	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:75650471A>C	ENST00000361470.2	+	1	2426	c.2148A>C	c.(2146-2148)gaA>gaC	p.E716D		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	716						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TTTTTGAGGAAGCTGCTGCAG	0.512																																																	0													58	44	49					X																	75650471		2203	4300	6503	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2148A>C	X.37:g.75650471A>C	ENSP00000354912:p.Glu716Asp		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E716D	ENST00000361470.2	37	c.2148	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	.	12.86	2.063773	0.36373	.	.	ENSG00000198934	ENST00000361470	T	0.03663	3.85	2.26	2.26	0.28386	.	.	.	.	.	T	0.02929	0.0087	L	0.36672	1.1	0.09310	N	1	P	0.50156	0.932	B	0.38954	0.286	T	0.45483	-0.9258	9	0.24483	T	0.36	.	5.7018	0.17887	1.0:0.0:0.0:0.0	.	716	Q9HCI5	MAGE1_HUMAN	D	716	ENSP00000354912:E716D	ENSP00000354912:E716D	E	+	3	2	MAGEE1	75566875	0.998000	0.40836	0.088000	0.20740	0.878000	0.50629	1.772000	0.38552	1.130000	0.42092	0.441000	0.28932	GAA	MAGEE1	-	NULL	ENSG00000198934		0.512	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0	31	0	A	NM_020932		75650471	1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.085	C	C	75650471	A	C	75650471	3	2	81	1	0	0	0	0	1	0	0	0	9223	69	3	4	2150	4	MAGEE1	23	75650471	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	646469	75650471	79620089	298	21565											
ESX1	80712	genome.wustl.edu	37	chrX	103498837	103498837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcaagccacttaccgCgccacaacgtcgggatattg	9	6	12	14	5	0	0	0	0	0	0	1	1	0	1	4	3	3	1	4	3	4	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:103498837C>T	ENST00000372588.4	-	2	587	c.504G>A	c.(502-504)gcG>gcA	p.A168A		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	168					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCACTTACCGCGCCACAACGT	0.627																																					Pancreas(200;1705 2227 25194 28471 45274)												0													48	50	50					X																	103498837		2202	4298	6500	SO:0001819	synonymous_variant	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.504G>A	X.37:g.103498837C>T			B0QYU3|Q7Z6K7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.A168	ENST00000372588.4	37	c.504	CCDS14516.1	X																																																																																			ESX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000123576		0.627	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2	-	0	87	0	C	NM_153448		103498837	-1	tier1	-	no_errors	ENST00000372588	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.000	T	T	103498837	C	T	103498837	2	4	81	1	0	0	0	0	0	0	0	1	5279	755	27	1		1	ESX1	23	103498837	Silent	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	27848366	103498837	51771723	299	21566											
ZCCHC12	170261	genome.wustl.edu	37	chrX	117959806	117959806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattttctcaggatgtatgCaaatgagcaggagcggcttc	10	11	13	7	1	1	1	1	1	1	0	3	4	1	4	0	4	3	4	0	4	2	4			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:117959806C>T	ENST00000310164.2	+	4	1106	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	200					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGATGTATGCAAATGAGCAG	0.478																																																	0													60	59	60					X																	117959806		2201	4298	6499	SO:0001583	missense	0			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"Zinc fingers, CCHC domain containing", "Paraneoplastic Ma antigens"	27273	protein-coding gene	gene with protein product	"paraneoplastic Ma antigen family member 7A"	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.599C>T	X.37:g.117959806C>T	ENSP00000308921:p.Ala200Val		B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	superfamily_Znf_CCHC	p.A200V	ENST00000310164.2	37	c.599	CCDS14574.1	X	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921390	0.52653	.	.	ENSG00000174460	ENST00000310164	T	0.10099	2.91	3.1	3.1	0.35709	.	0.218041	0.23439	N	0.048161	T	0.27489	0.0675	M	0.79123	2.44	0.30993	N	0.721145	D	0.76494	0.999	D	0.83275	0.996	T	0.08432	-1.0722	10	0.22109	T	0.4	-4.2912	8.8036	0.34923	0.0:1.0:0.0:0.0	.	200	Q6PEW1	ZCH12_HUMAN	V	200	ENSP00000308921:A200V	ENSP00000308921:A200V	A	+	2	0	ZCCHC12	117843834	0.990000	0.36364	0.994000	0.49952	0.935000	0.57460	0.912000	0.28597	1.806000	0.52798	0.600000	0.82982	GCA	ZCCHC12	-	NULL	ENSG00000174460		0.478	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	HGNC	protein_coding	OTTHUMT00000058014.1		0	29	0	C	NM_173798		117959806	1			no_errors	ENST00000310164	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.994	T	T	117959806	C	T	117959806	3	4	81	1	0	0	0	0	1	0	0	0	17629	710	25	3	601	3	ZCCHC12	23	117959806	Missense_Mutation	SNP	C	TCGA-L5-A8NG-01A-11D-A37C-09	14460969	117959806	37310754	300	21567											
SMARCA1	6594	genome.wustl.edu	37	chrX	128633806	128633806	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttatacggcgtaacaaaaAtggttttaaaacctaaaagg	17	12	7	5	2	0	0	0	0	0	0	0	0	0	0	1	3	3	2	1	3	9	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:128633806A>C	ENST00000371122.4	-	10	1309	c.1180T>G	c.(1180-1182)Ttt>Gtt	p.F394V	SMARCA1_ENST00000371121.3_Missense_Mutation_p.F394V|SMARCA1_ENST00000371123.1_Missense_Mutation_p.F394V	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	394					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGTAACAAAAATGGTTTTAAA	0.289																																																	0													82	86	85					X																	128633806		2202	4298	6500	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1180T>G	X.37:g.128633806A>C	ENSP00000360163:p.Phe394Val		Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F394V	ENST00000371122.4	37	c.1180	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405046	0.83230	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41	5.24	5.24	0.73138	SNF2-related (1);	0.000000	0.64402	D	0.000004	D	0.97235	0.9096	M	0.91872	3.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.994;0.996	D	0.98063	1.0394	10	0.87932	D	0	-14.4292	14.2206	0.65823	1.0:0.0:0.0:0.0	.	373;394;394;394	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	V	394;394;394;373	ENSP00000360162:F394V;ENSP00000360164:F394V;ENSP00000360163:F394V;ENSP00000404275:F373V	ENSP00000360162:F394V	F	-	1	0	SMARCA1	128461487	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	1.736000	0.51660	0.414000	0.27820	TTT	SMARCA1	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000102038		0.289	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	-	0	34	0	A	NM_003069		128633806	-1	tier1	-	no_errors	ENST00000371122	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	C	C	128633806	A	C	128633806	3	2	81	1	0	0	0	0	1	0	0	0	14813	101	4	4	2044	4	SMARCA1	23	128633806	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	10674000	128633806	26636754	301	21568											
FGF13	2258	genome.wustl.edu	37	chrX	137939763	137939763	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgaaagggggactcttttTtctttaattccgcagattgg	9	14	10	8	2	2	1	0	0	2	1	3	3	3	2	1	3	0	1	1	3	2	7			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:137939763T>G	ENST00000441825.2	-	1	78	c.41A>C	c.(40-42)aAa>aCa	p.K14T	FGF13_ENST00000370603.3_Missense_Mutation_p.K43T|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGACTCTTTTTTCTTTAATTC	0.478																																																	0													210	176	186					X																	137939763		1568	3582	5150	SO:0001583	missense	0			BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"fibroblast growth factor homologous factor 2"	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000441825.2:c.41A>C	X.37:g.137939763T>G	ENSP00000409276:p.Lys14Thr		B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam	p.K43T	ENST00000441825.2	37	c.128	CCDS55511.1	X	.	.	.	.	.	.	.	.	.	.	T	15.59	2.879559	0.51801	.	.	ENSG00000129682	ENST00000441825;ENST00000370603;ENST00000436198;ENST00000455663;ENST00000448673;ENST00000421460	T;T;T;D	0.82433	-1.44;-1.39;-1.38;-1.61	6.07	6.07	0.98685	.	1.294320	0.04697	N	0.415125	T	0.73713	0.3622	N	0.08118	0	0.26174	N	0.979828	B	0.17038	0.02	B	0.15052	0.012	T	0.58487	-0.7628	10	0.33141	T	0.24	.	14.5728	0.68224	0.0:0.0:0.0:1.0	.	43	B7Z4M7	.	T	14;43;43;49;43;14	ENSP00000409276:K14T;ENSP00000359635:K43T;ENSP00000396198:K43T;ENSP00000406916:K49T	ENSP00000359635:K43T	K	-	2	0	FGF13	137767429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.455000	0.66658	2.041000	0.60428	0.481000	0.45027	AAA	FGF13	-	NULL	ENSG00000129682		0.478	FGF13-202	KNOWN	basic|CCDS	protein_coding	FGF13	HGNC	protein_coding		-	0	18	0	T	NM_004114		137939763	-1	tier1	-	no_errors	ENST00000370603	ensembl	human	known	74_37	missense	66.67	4	8	SNP	1.000	G	G	137939763	T	G	137939763	3	3	81	1	0	0	0	0	1	0	0	0	5864	1841	64	4	882	4	FGF13	23	137939763	Missense_Mutation	SNP	T	TCGA-L5-A8NG-01A-11D-A37C-09	9305957	137939763	17330797	302	21569											
AFF2	2334	genome.wustl.edu	37	chrX	148039913	148039913	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagaagcagcgcctggAggaggccacaactatctgct	12	6	13	10	1	1	2	0	1	1	2	1	5	1	4	2	3	4	2	2	3	4	1			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:148039913A>T	ENST00000370460.2	+	12	3094	c.2615A>T	c.(2614-2616)gAg>gTg	p.E872V	AFF2_ENST00000286437.5_Missense_Mutation_p.E513V|AFF2_ENST00000370457.5_Missense_Mutation_p.E839V|AFF2_ENST00000342251.3_Missense_Mutation_p.E839V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	872					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGCCTGGAGGAGGCCACA	0.517																																																	0													207	188	194					X																	148039913		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2615A>T	X.37:g.148039913A>T	ENSP00000359489:p.Glu872Val		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.E872V	ENST00000370460.2	37	c.2615	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447633	0.84101	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	5.81	0.92471	.	0.498368	0.21476	N	0.073916	D	0.83312	0.5227	M	0.78049	2.395	0.53005	D	0.999969	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.75484	0.986;0.975;0.975;0.975;0.975;0.986	T	0.82522	-0.0415	10	0.34782	T	0.22	.	14.1911	0.65639	1.0:0.0:0.0:0.0	.	513;837;839;833;862;872	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	V	872;839;839;513	ENSP00000359489:E872V;ENSP00000359486:E839V;ENSP00000345459:E839V;ENSP00000286437:E513V	ENSP00000286437:E513V	E	+	2	0	AFF2	147847613	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.943000	0.75934	1.949000	0.56562	0.486000	0.48141	GAG	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.517	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	46	0	A	NM_002025		148039913	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	148039913	A	T	148039913	3	4	81	1	0	0	0	0	1	0	0	0	357	304	11	5	2716	5	AFF2	23	148039913	Missense_Mutation	SNP	A	TCGA-L5-A8NG-01A-11D-A37C-09	10100150	148039913	7230647	303	21570											
EMD	2010	genome.wustl.edu	37	chrX	153609157	153609157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgaagaggagtgcaaGgataggtgcgtagtggggga	10	9	18	4	1	2	2	0	1	2	1	2	5	2	5	0	5	2	2	0	5	4	3			TCGA-L5-A8NG-01A-11D-A37C-09	TCGA-L5-A8NG-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c63e7bd8-4fcd-42af-9df4-5403e90653ae	ba900120-b0b0-4733-8a20-d6f83a03b0d0	g.chrX:153609157G>T	ENST00000369842.4	+	5	732	c.444G>T	c.(442-444)aaG>aaT	p.K148N	EMD_ENST00000369835.3_Missense_Mutation_p.K113N|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	148	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAGTGCAAGGATAGGTGCG	0.612																																																	0													87	83	84					X																	153609157		2203	4300	6503	SO:0001583	missense	0			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"LEM domain containing 5"	300384	"Emery-Dreifuss muscular dystrophy"				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.444G>T	X.37:g.153609157G>T	ENSP00000358857:p.Lys148Asn		Q6FI02	Missense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.K148N	ENST00000369842.4	37	c.444	CCDS14745.1	X	.	.	.	.	.	.	.	.	.	.	G	5.697	0.313202	0.10789	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	D;D	0.86694	-1.74;-2.16	4.53	-1.31	0.09230	.	0.438115	0.24937	N	0.034411	T	0.79488	0.4454	L	0.32530	0.975	0.09310	N	1	D	0.54964	0.969	P	0.46144	0.505	T	0.73139	-0.4077	10	0.41790	T	0.15	-32.2044	8.6233	0.33875	0.633:0.0:0.367:0.0	.	148	P50402	EMD_HUMAN	N	148;113	ENSP00000358857:K148N;ENSP00000358850:K113N	ENSP00000358850:K113N	K	+	3	2	EMD	153262351	0.990000	0.36364	0.014000	0.15608	0.028000	0.11728	0.067000	0.14510	-0.330000	0.08514	-0.397000	0.06425	AAG	EMD	-	NULL	ENSG00000102119		0.612	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMD	HGNC	protein_coding	OTTHUMT00000080921.1	-	0	35	0	G			153609157	1	tier1	-	no_errors	ENST00000369842	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.001	T	T	153609157	G	T	153609157	3	4	81	1	0	0	0	0	1	0	0	0	5103	991	35	3	462	3	EMD	23	153609157	Missense_Mutation	SNP	G	TCGA-L5-A8NG-01A-11D-A37C-09	5569244	153609157	1661403	304	21571											
KIF1B	23095	genome.wustl.edu	37	chr1	10356961	10356961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttttgtgctaggaaaccGtatcatcatgggtaaaaacc	12	12	9	8	1	2	0	2	0	0	0	2	1	2	1	2	2	3	4	2	2	6	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:10356961G>A	ENST00000377086.1	+	21	2070	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R577H|KIF1B_ENST00000377093.4_Missense_Mutation_p.R577H|KIF1B_ENST00000377081.1_Missense_Mutation_p.R623H|KIF1B_ENST00000377083.1_Missense_Mutation_p.R577H|RNU6-37P_ENST00000362692.1_RNA			O60333	KIF1B_HUMAN	kinesin family member 1B	623					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTAGGAAACCGTATCATCATG	0.413																																																	0													47	50	49					1																	10356961		2202	4300	6502	SO:0001583	missense	0			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"Kinesins", "Pleckstrin homology (PH) domain containing"	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1868G>A	1.37:g.10356961G>A	ENSP00000366290:p.Arg623His		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R577H	ENST00000377086.1	37	c.1730		1	.	.	.	.	.	.	.	.	.	.	G	33	5.234510	0.95207	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	6.03	6.03	0.97812	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.167757	0.51477	D	0.000094	D	0.91613	0.7350	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.993;0.988;0.998;0.993;0.998;0.957;0.996	D	0.92468	0.5983	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	609;583;623;597;623;577;577	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	H	623;577;577;623;577;623	ENSP00000263934:R577H;ENSP00000366297:R577H;ENSP00000366290:R623H;ENSP00000366287:R577H;ENSP00000366284:R623H	ENSP00000263934:R577H	R	+	2	0	KIF1B	10279548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.854000	0.98071	0.655000	0.94253	CGT	KIF1B	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain	ENSG00000054523		0.413	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1		0	40	0	G			10356961	1			no_errors	ENST00000263934	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	10356961	G	A	10356961	3	1	82	1	0	0	0	0	1	0	0	0	8311	1145	40	1	1800	1	KIF1B	1	10356961	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		10356961	238893660	1	21572											
AADACL4	343066	genome.wustl.edu	37	chr1	12726318	12726318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctctcctggcgtgacGccatcttgaacggcacttgt	6	12	10	13	3	2	3	0	3	2	0	3	3	2	3	3	2	1	1	3	2	1	3	rs139261871		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:12726318G>A	ENST00000376221.1	+	4	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A266T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTGGCGTGACGCCATCTTGAA	0.502													G|||	1	0.000199681	0	0	5008	,	,		19682	0		0.001	False		,,,				2504	0																2	Substitution - Missense(2)	large_intestine(2)						G	THR/ALA	0,4406		0,0,2203	137	134	135		796	2.4	0	1	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	AADACL4	NM_001013630.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	266/408	12726318	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.796G>A	1.37:g.12726318G>A	ENSP00000365395:p.Ala266Thr			Missense_Mutation	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.A266T	ENST00000376221.1	37	c.796	CCDS30590.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.05	1.524004	0.27299	0.0	1.16E-4	ENSG00000204518	ENST00000376221	T	0.59083	0.29	4.38	2.44	0.29823	.	0.382752	0.24561	N	0.037470	T	0.38268	0.1034	L	0.31294	0.92	0.09310	N	1	B	0.32731	0.382	B	0.28139	0.086	T	0.16541	-1.0399	10	0.32370	T	0.25	-20.033	7.5085	0.27560	0.1645:0.1364:0.6991:0.0	.	266	Q5VUY2	ADCL4_HUMAN	T	266	ENSP00000365395:A266T	ENSP00000365395:A266T	A	+	1	0	AADACL4	12648905	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.356000	0.07661	1.034000	0.39945	0.655000	0.94253	GCC	AADACL4	-	pirsf_Arylacetamide_deacetylase	ENSG00000204518		0.502	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	HGNC	protein_coding	OTTHUMT00000005328.1		0	26	0	G	NM_001013630		12726318	1			no_errors	ENST00000376221	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.001	A	A	12726318	G	A	12726318	3	1	82	1	0	0	0	0	1	0	0	0	13	1087	38	1	810	1	AADACL4	1	12726318	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2369357	12726318	236524303	2	21573											
C1orf135	79000	genome.wustl.edu	37	chr1	26185816	26185816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcgtccagccacacgccGcaggcctcctcctcggggcc	4	4	12	21	5	0	0	0	0	0	0	4	0	3	0	8	3	1	1	8	3	0	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:26185816G>A	ENST00000374298.3	-	1	87	c.33C>T	c.(31-33)tgC>tgT	p.C11C	AUNIP_ENST00000538789.1_Silent_p.C11C|RP1-125I3.2_ENST00000455431.1_RNA	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	11					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											GCCACACGCCGCAGGCCTCCT	0.716																																																	0													19	15	16					1																	26185816		2171	4273	6444	SO:0001819	synonymous_variant	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 135"	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.33C>T	1.37:g.26185816G>A			C9EI59|Q53F70	Silent	SNP	NULL	p.C11	ENST00000374298.3	37	c.33	CCDS266.1	1																																																																																			AUNIP	-	NULL	ENSG00000127423		0.716	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	-	0	41	0	G	NM_024037		26185816	-1	tier1	-	no_errors	ENST00000538789	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.969	A	A	26185816	G	A	26185816	2	1	82	1	0	0	0	0	0	0	0	1	2006	1079	38	1		1	C1orf135	1	26185816	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	13459498	26185816	223064805	3	21574											
RPS6KA1	6195	genome.wustl.edu	37	chr1	26898372	26898372	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggctacgatgaaggctgCgacatctggagcctgggcat	9	7	15	10	2	1	1	0	1	1	0	1	4	1	2	1	4	3	3	1	4	2	1	rs552205045		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:26898372C>T	ENST00000374168.2	+	19	1939	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	RPS6KA1_ENST00000531382.1_Silent_p.C604C|RPS6KA1_ENST00000530003.1_Silent_p.C579C|RPS6KA1_ENST00000526792.1_Silent_p.C503C|RPS6KA1_ENST00000374166.4_Silent_p.C584C|RPS6KA1_ENST00000374162.2_Silent_p.C503C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	595	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		ATGAAGGCTGCGACATCTGGA	0.632													C|||	1	0.000199681	0	0	5008	,	,		19490	0		0	False		,,,				2504	0.001																0													56	49	52					1																	26898372		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"ribosomal protein S6 kinase, 90kD, polypeptide 1"			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1785C>T	1.37:g.26898372C>T			A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C604	ENST00000374168.2	37	c.1812	CCDS284.1	1																																																																																			RPS6KA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000117676		0.632	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1		0	37	0	C	NM_002953		26898372	1			no_errors	ENST00000531382	ensembl	human	known	74_37	silent	6.67	27	2	SNP	0.948	T	T	26898372	C	T	26898372	2	4	82	1	0	0	0	0	0	0	0	1	13695	776	27	1		1	RPS6KA1	1	26898372	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	712556	26898372	222352249	4	21575											
PUM1	9698	genome.wustl.edu	37	chr1	31438993	31438993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtagaaagaactggatGccaggttgttattgggctgc	9	11	14	7	1	0	2	0	0	0	2	0	3	0	3	2	3	4	4	2	3	4	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:31438993G>A	ENST00000257075.5	-	13	2015	c.1922C>T	c.(1921-1923)gCa>gTa	p.A641V	SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000423018.2_Missense_Mutation_p.A497V|PUM1_ENST00000424085.2_Missense_Mutation_p.A399V|PUM1_ENST00000440538.2_Missense_Mutation_p.A615V|PUM1_ENST00000490546.1_Intron|PUM1_ENST00000373742.2_Missense_Mutation_p.A582V|PUM1_ENST00000373741.4_Missense_Mutation_p.A677V|PUM1_ENST00000426105.2_Missense_Mutation_p.A641V|PUM1_ENST00000373747.3_Missense_Mutation_p.A642V	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	641					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGAACTGGATGCCAGGTTGTT	0.557																																																	0													137	132	134					1																	31438993		2203	4300	6503	SO:0001583	missense	0			AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"pumilio (Drosophila) homolog 1", "pumilio homolog 1 (Drosophila)"				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1922C>T	1.37:g.31438993G>A	ENSP00000257075:p.Ala641Val		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.A641V	ENST00000257075.5	37	c.1922	CCDS338.1	1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715931	0.68844	.	.	ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742	T;T;T;T;T;T;T;T	0.18810	2.2;2.19;2.45;2.45;2.46;2.44;2.48;2.19	5.95	5.95	0.96441	.	0.047293	0.85682	D	0.000000	T	0.27454	0.0674	L	0.40543	1.245	0.52099	D	0.999949	D;B;P;B;P;P;P;P	0.54772	0.968;0.041;0.944;0.069;0.913;0.856;0.913;0.913	P;B;P;B;B;B;B;B	0.48654	0.585;0.051;0.585;0.109;0.445;0.445;0.445;0.445	T	0.00460	-1.1726	10	0.22109	T	0.4	-7.5831	20.3931	0.98965	0.0:0.0:1.0:0.0	.	582;497;677;615;641;641;642;641	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5	.;.;.;.;PUM1_HUMAN;.;.;.	V	399;641;642;379;641;615;677;497;582	ENSP00000400141:A399V;ENSP00000257075:A641V;ENSP00000362852:A642V;ENSP00000391723:A641V;ENSP00000401777:A615V;ENSP00000362846:A677V;ENSP00000399440:A497V;ENSP00000362847:A582V	ENSP00000257075:A641V	A	-	2	0	PUM1	31211580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.175000	0.65021	2.824000	0.97209	0.655000	0.94253	GCA	PUM1	-	NULL	ENSG00000134644		0.557	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PUM1	HGNC	protein_coding	OTTHUMT00000010671.1	-	0	122	0	G			31438993	-1	tier1	-	no_errors	ENST00000426105	ensembl	human	known	74_37	missense	22.62	65	19	SNP	1.000	A	A	31438993	G	A	31438993	3	1	82	1	0	0	0	0	1	0	0	0	12870	1319	46	3	1684	3	PUM1	1	31438993	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	4540621	31438993	217811628	5	21576											
CSMD2	114784	genome.wustl.edu	37	chr1	34238271	34238271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcactcaaacttgagtGtgtcaccgtggtgaaaccgg	9	9	13	10	2	2	2	2	2	0	0	2	2	2	2	2	3	2	2	2	3	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:34238271G>T	ENST00000338325.1	-	7	981	c.569C>A	c.(568-570)aCa>aAa	p.T190K	CSMD2_ENST00000373381.4_Missense_Mutation_p.T582K			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	542	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAACTTGAGTGTGTCACCGTG	0.557																																																	0													121	112	115					1																	34238271		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.569C>A	1.37:g.34238271G>T	ENSP00000340311:p.Thr190Lys		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T582K	ENST00000338325.1	37	c.1745		1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.932377	0.52866	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.63096	-0.02;-0.02	6.06	6.06	0.98353	Complement control module (2);Sushi/SCR/CCP (3);	0.236808	0.41938	D	0.000789	T	0.56949	0.2020	L	0.46670	1.46	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.21360	0.034;0.034	T	0.48581	-0.9023	10	0.27082	T	0.32	.	15.5725	0.76352	0.0:0.1381:0.8619:0.0	.	542;582	Q7Z408;E7EUA6	CSMD2_HUMAN;.	K	582;190	ENSP00000362479:T582K;ENSP00000340311:T190K	ENSP00000241312:T542K	T	-	2	0	CSMD2	34010858	0.998000	0.40836	0.915000	0.36163	0.995000	0.86356	2.750000	0.47500	2.882000	0.98803	0.655000	0.94253	ACA	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.557	CSMD2-004	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000036404.2		0	34	0	G	NM_052896		34238271	-1			no_errors	ENST00000373381	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.946	T	T	34238271	G	T	34238271	3	4	82	1	0	0	0	0	1	0	0	0	3954	1377	48	3	9066	3	CSMD2	1	34238271	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2799278	34238271	215012350	6	21577											
EIF2C4	192670	genome.wustl.edu	37	chr1	36291647	36291647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcccagcgtgtcaaatttaCcaaagaaatcagaggtaagt	15	9	8	9	1	2	2	2	0	0	2	3	2	3	2	2	1	2	1	2	1	5	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:36291647C>A	ENST00000373210.3	+	6	991	c.746C>A	c.(745-747)aCc>aAc	p.T249N		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	249	PAZ. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GTCAAATTTACCAAAGAAATC	0.463																																																	0													109	103	105					1																	36291647		2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.746C>A	1.37:g.36291647C>A	ENSP00000362306:p.Thr249Asn		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.T249N	ENST00000373210.3	37	c.746	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622250	0.66787	.	.	ENSG00000134698	ENST00000373210	T	0.14266	2.52	5.53	5.53	0.82687	Argonaute/Dicer protein, PAZ (4);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.60067	1.865	0.80722	D	1	B	0.14805	0.011	B	0.30401	0.115	T	0.02546	-1.1143	10	0.41790	T	0.15	-11.8358	19.4664	0.94945	0.0:1.0:0.0:0.0	.	249	Q9HCK5	AGO4_HUMAN	N	249	ENSP00000362306:T249N	ENSP00000362306:T249N	T	+	2	0	EIF2C4	36064234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.595000	0.87683	0.557000	0.71058	ACC	AGO4	-	pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom	ENSG00000134698		0.463	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3	-	0	47	0	C	NM_017629		36291647	1	tier1	-	no_errors	ENST00000373210	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A	A	36291647	C	A	36291647	3	1	82	1	0	0	0	0	1	0	0	0	5022	507	18	3	768	3	EIF2C4	1	36291647	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2053376	36291647	212958974	7	21578											
MAP7D1	55700	genome.wustl.edu	37	chr1	36639028	36639028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccgaaatccggcagcagCgctggtcctgggcaggggcc	6	4	18	13	3	0	0	0	0	0	0	2	1	2	0	4	6	2	4	4	6	1	0	rs201457297		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:36639028C>T	ENST00000373151.2	+	5	904	c.688C>T	c.(688-690)Cgc>Tgc	p.R230C	MAP7D1_ENST00000316156.4_Missense_Mutation_p.R230C|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R230C	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	230					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CCGGCAGCAGCGCTGGTCCTG	0.632																																																	0													74	72	73					1																	36639028		2203	4300	6503	SO:0001583	missense	0			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"proline arginine rich coiled coil 1", "arginine/proline rich coiled-coil 1"	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.688C>T	1.37:g.36639028C>T	ENSP00000362244:p.Arg230Cys		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	pfam_MAP7	p.R230C	ENST00000373151.2	37	c.688	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.405796	0.83230	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	5.22	5.22	0.72569	.	0.000000	0.42420	D	0.000702	T	0.41650	0.1168	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76071	0.987;0.977;0.987	T	0.35425	-0.9789	10	0.72032	D	0.01	-14.6252	17.7316	0.88379	0.0:1.0:0.0:0.0	.	230;230;230	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	C	191;230;230;230	ENSP00000390091:R191C;ENSP00000320228:R230C;ENSP00000362243:R230C;ENSP00000362244:R230C	ENSP00000320228:R230C	R	+	1	0	MAP7D1	36411615	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.760000	0.47581	2.620000	0.88729	0.655000	0.94253	CGC	MAP7D1	-	NULL	ENSG00000116871		0.632	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	-	0	97	0	C	NM_018067		36639028	1	tier1	rs201457297	no_errors	ENST00000373151	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	T	T	36639028	C	T	36639028	3	4	82	1	0	0	0	0	1	0	0	0	9305	768	27	1	706	1	MAP7D1	1	36639028	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	347381	36639028	212611593	8	21579											
GRIK3	2899	genome.wustl.edu	37	chr1	37270590	37270591	+	Frame_Shift_Ins	INS	-	-	CT																															caagctctaaggcttacctgINSctctctctctgctgttttgc																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:37270590_37270591insCT	ENST00000373091.3	-	15	2578_2579	c.2562_2563insAG	c.(2560-2565)gagcagfs	p.Q855fs	GRIK3_ENST00000373093.4_Frame_Shift_Ins_p.Q855fs	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	855					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGGCTTACCTGCTCTCTCTCTG	0.569																																																	0																																										SO:0001589	frameshift_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2561_2562dupAG	1.37:g.37270599_37270600dupCT	ENSP00000362183:p.Gln855fs		A9Z1Z8|B1AMS6|Q13004|Q16136	Frame_Shift_Ins	INS	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q854fs	ENST00000373091.3	37	c.2563_2562	CCDS416.1	1																																																																																			GRIK3	-	NULL	ENSG00000163873		0.569	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1		0	35	0	-	NM_000831		37270591	-1	tier1		no_errors	ENST00000373091	ensembl	human	known	74_37	frame_shift_ins	23.08	20	6	INS	1.000:1.000	CT	CT	37270591	-	CT	37270590	7	5	82	1	0	1	1	0	0	0	0	0	6802	1328	46	0	204	0	GRIK3	1	37270590	Frame_Shift_Ins	INS	-	TCGA-L5-A8NH-01A-11D-A37C-09	631562	37270590	211980031	9	21580											
ZSWIM5	57643	genome.wustl.edu	37	chr1	45484793	45484793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggctgacagggcacagCtctgtggatccttcatagca	10	9	12	10	0	2	1	1	1	1	0	3	2	3	2	1	3	2	4	1	3	2	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:45484793C>T	ENST00000359600.5	-	14	3096	c.2891G>A	c.(2890-2892)aGc>aAc	p.S964N		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	964						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAGGGCACAGCTCTGTGGATC	0.542											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73	74	74					1																	45484793		2092	4213	6305	SO:0001583	missense	0			AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"Zinc fingers, SWIM-type"	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2891G>A	1.37:g.45484793C>T	ENSP00000352614:p.Ser964Asn	932	Q5SXQ9	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.S964N	ENST00000359600.5	37	c.2891	CCDS41319.1	1	.	.	.	.	.	.	.	.	.	.	C	1.469	-0.560292	0.03939	.	.	ENSG00000162415	ENST00000359600	T	0.38887	1.11	4.74	3.81	0.43845	.	0.038277	0.85682	D	0.000000	T	0.08846	0.0219	N	0.00446	-1.495	0.36757	D	0.883059	B	0.06786	0.001	B	0.06405	0.002	T	0.40308	-0.9570	10	0.02654	T	1	-17.2249	4.2028	0.10475	0.0:0.6853:0.0:0.3147	.	964	Q9P217	ZSWM5_HUMAN	N	964	ENSP00000352614:S964N	ENSP00000352614:S964N	S	-	2	0	ZSWIM5	45257380	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.171000	0.71926	2.558000	0.86282	0.555000	0.69702	AGC	ZSWIM5	-	NULL	ENSG00000162415		0.542	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM5	HGNC	protein_coding	OTTHUMT00000024823.2	-	0	42	0	C	XM_046581		45484793	-1	tier1	-	no_errors	ENST00000359600	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	45484793	C	T	45484793	3	4	82	1	0	0	0	0	1	0	0	0	18292	797	28	3	670	3	ZSWIM5	1	45484793	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	8214203	45484793	203765828	10	21581											
CYP4A22	284541	genome.wustl.edu	37	chr1	47609456	47609456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctcagtcctacatccagGccattagtgacctgaacagc	11	10	7	13	0	1	2	1	2	1	0	4	2	3	2	4	1	3	0	4	1	3	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:47609456G>A	ENST00000371891.3	+	6	689	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.A220T|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	220						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTACATCCAGGCCATTAGTGA	0.527																																					Pancreas(88;1240 1470 2099 14214 37557)												0													119	109	113					1																	47609456		2203	4300	6503	SO:0001583	missense	0				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.658G>A	1.37:g.47609456G>A	ENSP00000360958:p.Ala220Thr		Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.A220T	ENST00000371891.3	37	c.658	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	15.52	2.857686	0.51376	.	.	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.70869	-0.52;-0.52	1.7	0.703	0.18116	.	0.111229	0.64402	D	0.000011	T	0.80879	0.4708	M	0.85710	2.77	0.26484	N	0.975067	D	0.63046	0.992	D	0.65773	0.938	T	0.71248	-0.4649	10	0.56958	D	0.05	.	7.8939	0.29695	0.1357:0.0:0.8643:0.0	.	220	Q5TCH4	CP4AM_HUMAN	T	220	ENSP00000360958:A220T;ENSP00000294337:A220T	ENSP00000294337:A220T	A	+	1	0	CYP4A22	47382043	0.997000	0.39634	0.002000	0.10522	0.023000	0.10783	5.029000	0.64121	0.071000	0.16664	0.205000	0.17691	GCC	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000162365		0.527	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1		0	105	0	G	XM_208213		47609456	1			no_errors	ENST00000371891	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.382	A	A	47609456	G	A	47609456	3	1	82	1	0	0	0	0	1	0	0	0	4193	1203	42	3	680	3	CYP4A22	1	47609456	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2124663	47609456	201641165	11	21582											
C8B	732	genome.wustl.edu	37	chr1	57431535	57431535	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactgtcacttacctggaGccaggcaaactgagacagcc	12	7	10	12	0	1	1	1	1	0	1	1	3	1	2	3	2	5	2	3	2	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:57431535G>T	ENST00000371237.4	-	1	153	c.87C>A	c.(85-87)ggC>ggA	p.G29G	C8B_ENST00000543257.1_5'UTR|C8B_ENST00000494324.1_5'UTR|AL161740.1_ENST00000408664.1_RNA|C8B_ENST00000535057.1_5'UTR|RP5-1103B4.3_ENST00000417420.1_RNA	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	29					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.G29G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTACCTGGAGCCAGGCAAAC	0.493																																																	1	Substitution - coding silent(1)	lung(1)											74	74	74					1																	57431535		2203	4300	6503	SO:0001819	synonymous_variant	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.87C>A	1.37:g.57431535G>T			A1L4K7	Silent	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G29	ENST00000371237.4	37	c.87	CCDS30730.1	1																																																																																			C8B	-	NULL	ENSG00000021852		0.493	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	-	0	33	0	G			57431535	-1	tier1	-	no_errors	ENST00000371237	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.877	T	T	57431535	G	T	57431535	2	4	82	1	0	0	0	0	0	0	0	1	2424	958	34	3		3	C8B	1	57431535	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	9822079	57431535	191819086	12	21583											
UBE2U	148581	genome.wustl.edu	37	chr1	64680522	64680522	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctaatccagtgctaGagaatccagtgaatttggaa	12	13	9	7	0	1	2	0	1	1	1	3	4	3	3	2	1	2	2	2	1	5	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:64680522G>T	ENST00000371076.3	+	5	608	c.364G>T	c.(364-366)Gag>Tag	p.E122*		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	122					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			large_intestine(3)|lung(2)|skin(1)	6						TCCAGTGCTAGAGAATCCAGT	0.333																																																	0													99	102	101					1																	64680522		2203	4300	6503	SO:0001587	stop_gained	0			BC029895	CCDS627.1	1p31.3	2008-02-05			ENSG00000177414	ENSG00000177414		"Ubiquitin-conjugating enzymes E2"	28559	protein-coding gene	gene with protein product						12477932	Standard	NM_152489		Approved	MGC35130	uc001dbn.1	Q5VVX9	OTTHUMG00000009023	ENST00000371076.3:c.364G>T	1.37:g.64680522G>T	ENSP00000360116:p.Glu122*		Q8N1D4	Nonsense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E122*	ENST00000371076.3	37	c.364	CCDS627.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.111962	0.94339	.	.	ENSG00000177414	ENST00000371077;ENST00000371076	.	.	.	4.49	1.24	0.21308	.	0.578351	0.15316	N	0.268797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	4.8352	0.13460	0.2235:0.1787:0.5978:0.0	.	.	.	.	X	122	.	ENSP00000360116:E122X	E	+	1	0	UBE2U	64453110	0.984000	0.35163	0.780000	0.31762	0.437000	0.31866	1.463000	0.35277	0.423000	0.26033	0.557000	0.71058	GAG	UBE2U	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000177414		0.333	UBE2U-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2U	HGNC	protein_coding	OTTHUMT00000025005.1	-	0	111	0	G	NM_152489		64680522	1	tier1	-	no_errors	ENST00000371076	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	0.752	T	T	64680522	G	T	64680522	4	4	82	1	0	0	0	0	0	1	0	0	16923	943	33	3	382	3	UBE2U	1	64680522	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7248987	64680522	184570099	13	21584											
GBP1	2633	genome.wustl.edu	37	chr1	89520498	89520498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcatctgctcattctttCtttgcatttcctgcaacatt	7	18	3	13	0	5	0	2	0	3	0	6	0	6	0	2	0	4	3	2	0	1	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:89520498C>G	ENST00000370473.4	-	10	1751	c.1532G>C	c.(1531-1533)aGa>aCa	p.R511T	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	511					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CTCATTCTTTCTTTGCATTTC	0.443																																																	0													391	401	397					1																	89520498		2203	4300	6503	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1532G>C	1.37:g.89520498C>G	ENSP00000359504:p.Arg511Thr		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.R511T	ENST00000370473.4	37	c.1532	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	5.792	0.330377	0.10956	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02067	4.47	4.67	-3.64	0.04515	Guanylate-binding protein, C-terminal (3);	1.289840	0.04894	N	0.450063	T	0.00815	0.0027	L	0.55213	1.73	0.09310	N	1	B	0.18741	0.03	B	0.20767	0.031	T	0.45498	-0.9257	10	0.39692	T	0.17	.	4.0045	0.09595	0.449:0.2968:0.0:0.2541	.	511	P32455	GBP1_HUMAN	T	511;474	ENSP00000359504:R511T	ENSP00000359504:R511T	R	-	2	0	GBP1	89293086	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-1.985000	0.01485	-1.192000	0.02691	0.491000	0.48974	AGA	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.443	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3	-	0	81	0	C	NM_002053		89520498	-1	tier1	-	no_errors	ENST00000370473	ensembl	human	known	74_37	missense	12.28	50	7	SNP	0.000	G	G	89520498	C	G	89520498	3	3	82	1	0	0	0	0	1	0	0	0	6298	913	32	5	254	5	GBP1	1	89520498	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	24839976	89520498	159730123	14	21585											
ZNF644	84146	genome.wustl.edu	37	chr1	91403316	91403316	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctgatgcagacacTgacagagcttcagtctttag	9	14	8	10	0	5	4	1	2	4	2	5	4	5	4	0	0	2	2	0	0	1	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:91403316T>G	ENST00000370440.1	-	4	3631	c.3414A>C	c.(3412-3414)tcA>tcC	p.S1138S	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.S1138S|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATGCAGACACTGACAGAGCTT	0.378																																																	0													162	166	165					1																	91403316		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3414A>C	1.37:g.91403316T>G			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1138	ENST00000370440.1	37	c.3414	CCDS731.1	1																																																																																			ZNF644	-	NULL	ENSG00000122482		0.378	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	-	0	68	0	T	NM_032186		91403316	-1	tier1	-	no_errors	ENST00000337393	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.999	G	G	91403316	T	G	91403316	2	3	82	1	0	0	0	0	0	0	0	1	18108	1567	55	4		4	ZNF644	1	91403316	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	1882818	91403316	157847305	15	21586											
GSTM5	2949	genome.wustl.edu	37	chr1	110256361	110256361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaccacatggagctggtcaGactgtgctatgacccagatt	11	10	10	10	0	1	3	1	1	0	2	1	4	1	4	2	2	3	2	2	2	2	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:110256361G>A	ENST00000256593.3	+	5	396	c.338G>A	c.(337-339)aGa>aAa	p.R113K	GSTM5_ENST00000369812.5_Missense_Mutation_p.R132K|GSTM5_ENST00000369813.1_Missense_Mutation_p.R72K|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	113	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GAGCTGGTCAGACTGTGCTAT	0.532																																																	0													392	230	285					1																	110256361		2203	4300	6503	SO:0001583	missense	0			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"Glutathione S-transferases / Soluble"	4637	protein-coding gene	gene with protein product		138385	"glutathione S-transferase M5"			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.338G>A	1.37:g.110256361G>A	ENSP00000256593:p.Arg113Lys		A8K0V8|Q6PD78	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.R132K	ENST00000256593.3	37	c.395	CCDS811.1	1	.	.	.	.	.	.	.	.	.	.	G	7.275	0.607966	0.14002	.	.	ENSG00000134201	ENST00000256593;ENST00000369813;ENST00000369812	T;T;T	0.02177	4.41;4.41;4.41	1.95	-3.89	0.04193	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.275476	0.27941	U	0.017222	T	0.00608	0.0020	L	0.43757	1.38	0.09310	N	1	B;B	0.19445	0.036;0.001	B;B	0.21360	0.034;0.005	T	0.43956	-0.9359	10	0.45353	T	0.12	.	4.2322	0.10608	0.0:0.2835:0.3539:0.3625	.	72;113	Q5T8Q9;P46439	.;GSTM5_HUMAN	K	113;72;132	ENSP00000256593:R113K;ENSP00000358828:R72K;ENSP00000358827:R132K	ENSP00000256593:R113K	R	+	2	0	GSTM5	110057884	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.213000	0.09305	-1.017000	0.03367	-0.598000	0.04106	AGA	GSTM5	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	ENSG00000134201		0.532	GSTM5-001	KNOWN	basic|CCDS	protein_coding	GSTM5	HGNC	protein_coding	OTTHUMT00000032200.1	-	0	76	0	G	NM_000851		110256361	1	tier1	-	no_errors	ENST00000369812	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.004	A	A	110256361	G	A	110256361	3	1	82	1	0	0	0	0	1	0	0	0	6868	942	33	3	356	3	GSTM5	1	110256361	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	18853045	110256361	138994260	16	21587											
CHIA	27159	genome.wustl.edu	37	chr1	111861155	111861155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggacaatggagcaccagCtgagaagctcatcgttggat	13	7	13	8	1	1	1	1	1	0	1	2	6	1	4	1	3	3	4	1	3	3	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:111861155C>T	ENST00000369740.1	+	9	873	c.770C>T	c.(769-771)gCt>gTt	p.A257V	CHIA_ENST00000343320.6_Missense_Mutation_p.A257V|CHIA_ENST00000353665.6_Missense_Mutation_p.A96V|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.A96V|CHIA_ENST00000483391.1_Missense_Mutation_p.A96V|CHIA_ENST00000430615.1_Missense_Mutation_p.A149V	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	257					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGAGCACCAGCTGAGAAGCTC	0.507																																																	0													127	114	118					1																	111861155		2203	4300	6503	SO:0001583	missense	0			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.770C>T	1.37:g.111861155C>T	ENSP00000358755:p.Ala257Val		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.A257V	ENST00000369740.1	37	c.770	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475839	0.44044	.	.	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13;3.13;3.13;3.13	4.57	3.66	0.41972	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	U	0.000016	T	0.11410	0.0278	M	0.86028	2.79	0.38178	D	0.93952	P	0.45078	0.85	P	0.50537	0.643	T	0.02167	-1.1202	10	0.36615	T	0.2	-5.6018	10.5943	0.45327	0.0:0.9037:0.0:0.0963	.	257	Q9BZP6	CHIA_HUMAN	V	201;96;257;257;96;96;96;149	ENSP00000387671:A201V;ENSP00000436946:A96V;ENSP00000358755:A257V;ENSP00000341828:A257V;ENSP00000390476:A96V;ENSP00000338970:A96V;ENSP00000433309:A96V;ENSP00000391132:A149V	ENSP00000341828:A257V	A	+	2	0	CHIA	111662678	0.175000	0.23083	0.995000	0.50966	0.493000	0.33554	1.026000	0.30103	1.038000	0.40049	0.563000	0.77884	GCT	CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000134216		0.507	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1		0	54	0	C			111861155	1			no_errors	ENST00000343320	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.992	T	T	111861155	C	T	111861155	3	4	82	1	0	0	0	0	1	0	0	0	3349	797	28	3	800	3	CHIA	1	111861155	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1604794	111861155	137389466	17	21588											
WNT2B	7482	genome.wustl.edu	37	chr1	113057570	113057570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggcagcggcagctgtGccagcgttacccagacatca	9	5	13	14	3	1	1	1	0	0	1	1	2	1	1	3	2	6	4	3	2	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:113057570G>T	ENST00000369684.4	+	2	742	c.257G>T	c.(256-258)tGc>tTc	p.C86F	WNT2B_ENST00000256640.5_5'UTR|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.C67F|WNT2B_ENST00000478360.1_3'UTR	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	86					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCAGCTGTGCCAGCGTTAC	0.602																																																	0													92	83	86					1																	113057570		2203	4300	6503	SO:0001583	missense	0			AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"Wingless-type MMTV integration sites"	12781	protein-coding gene	gene with protein product	"XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13"	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.257G>T	1.37:g.113057570G>T	ENSP00000358698:p.Cys86Phe		O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2	p.C86F	ENST00000369684.4	37	c.257	CCDS847.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870506	0.91587	.	.	ENSG00000134245	ENST00000369686;ENST00000369684	T;T	0.79141	-1.24;-1.24	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92685	0.7675	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95400	0.8489	10	0.87932	D	0	.	18.5545	0.91079	0.0:0.0:1.0:0.0	.	86;67	Q93097;Q93097-2	WNT2B_HUMAN;.	F	67;86	ENSP00000358700:C67F;ENSP00000358698:C86F	ENSP00000358698:C86F	C	+	2	0	WNT2B	112859093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.474000	0.83562	0.561000	0.74099	TGC	WNT2B	-	pfam_Wnt,smart_Wnt	ENSG00000134245		0.602	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT2B	HGNC	protein_coding	OTTHUMT00000030692.1	-	0	67	0	G	NM_004185		113057570	1	tier1	-	no_errors	ENST00000369684	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	113057570	G	T	113057570	3	4	82	1	0	0	0	0	1	0	0	0	17436	1319	46	3	396	3	WNT2B	1	113057570	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1196415	113057570	136193051	18	21589											
TRIM33	51592	genome.wustl.edu	37	chr1	114969885	114969885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggacaggatcacaccgtGctttcaaaatatgacgcaac	14	7	9	11	2	2	1	2	1	0	0	2	3	2	3	1	2	2	2	1	2	4	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:114969885G>T	ENST00000358465.2	-	8	1417	c.1334C>A	c.(1333-1335)gCa>gAa	p.A445E	TRIM33_ENST00000369543.2_Missense_Mutation_p.A445E|TRIM33_ENST00000450349.2_Missense_Mutation_p.A53E	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	445					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCACACCGTGCTTTCAAAAT	0.363			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	" tripartite motif-containing 33 (PTC7,TIF1G)"		E	0													101	102	101					1																	114969885		2203	4300	6503	SO:0001583	missense	0			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"Tripartite motif containing / Tripartite motif containing", "Zinc fingers, PHD-type", "RING-type (C3HC4) zinc fingers"	16290	protein-coding gene	gene with protein product	"transcriptional intermediary factor 1 gamma", "ret-fused gene 7"	605769	"tripartite motif-containing 33"			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1334C>A	1.37:g.114969885G>T	ENSP00000351250:p.Ala445Glu		O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.A445E	ENST00000358465.2	37	c.1334	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.783896|4.783896	0.90282|0.90282	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	T;T;T|.	0.78816|.	-0.89;-0.79;-1.21|.	4.94|4.94	4.94|4.94	0.65067|0.65067	B-box, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.64538|0.64538	0.2607|0.2607	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.76494|.	0.997;0.997;0.999;0.903|.	D;D;D;P|.	0.83275|.	0.986;0.986;0.996;0.474|.	T|T	0.63346|0.63346	-0.6658|-0.6658	10|5	0.36615|.	T|.	0.2|.	-11.6513|-11.6513	18.1494|18.1494	0.89669|0.89669	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	53;53;445;445|.	E7EN20;B3KN30;Q9UPN9-2;Q9UPN9|.	.;.;.;TRI33_HUMAN|.	E|N	445;445;53|182	ENSP00000351250:A445E;ENSP00000358556:A445E;ENSP00000412077:A53E|.	ENSP00000351250:A445E|.	A|H	-|-	2|1	0|0	TRIM33|TRIM33	114771408|114771408	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.888000|0.888000	0.51559|0.51559	6.327000|6.327000	0.72910|0.72910	2.298000|2.298000	0.77334|0.77334	0.655000|0.655000	0.94253|0.94253	GCA|CAC	TRIM33	-	smart_Bbox_C	ENSG00000197323		0.363	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	-	0	71	0	G	NM_015906		114969885	-1	tier1	-	no_errors	ENST00000358465	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	114969885	G	T	114969885	3	4	82	1	0	0	0	0	1	0	0	0	16555	1319	46	3	2101	3	TRIM33	1	114969885	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1912315	114969885	134280736	19	21590											
AMPD1	270	genome.wustl.edu	37	chr1	115221045	115221045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtcagattcttctctttgGtgctatagaccactctgtca	7	15	9	10	0	5	2	2	0	3	2	6	2	5	2	1	2	1	1	1	2	2	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:115221045G>A	ENST00000520113.2	-	8	1115	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	AMPD1_ENST00000369538.3_Missense_Mutation_p.T363I|AMPD1_ENST00000353928.6_Missense_Mutation_p.T334I			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	367					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTCTCTTTGGTGCTATAGAC	0.403																																																	0													160	155	157					1																	115221045		2203	4300	6503	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"AMPD isoform M", "skeletal muscle AMPD"	102770	"adenosine monophosphate deaminase 1 (isoform M)"			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1100C>T	1.37:g.115221045G>A	ENSP00000430075:p.Thr367Ile		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.T367I	ENST00000520113.2	37	c.1100	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751458	0.31046	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.83335	-1.71;-1.71;-1.71	5.1	5.1	0.69264	Adenosine/AMP deaminase (1);	0.242186	0.41605	D	0.000843	T	0.69396	0.3106	L	0.34521	1.04	0.35220	D	0.775925	B;B	0.18741	0.03;0.002	B;B	0.17433	0.018;0.014	T	0.68834	-0.5304	10	0.56958	D	0.05	-18.3555	18.8767	0.92341	0.0:0.0:1.0:0.0	.	363;334	Q5TF02;P23109	.;AMPD1_HUMAN	I	367;363;334	ENSP00000430075:T367I;ENSP00000358551:T363I;ENSP00000316520:T334I	ENSP00000316520:T334I	T	-	2	0	AMPD1	115022568	0.184000	0.23200	1.000000	0.80357	0.411000	0.31082	2.070000	0.41491	2.539000	0.85634	0.561000	0.74099	ACC	AMPD1	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.403	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	-	0	57	0	G			115221045	-1	tier1	-	no_errors	ENST00000520113	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.995	A	A	115221045	G	A	115221045	3	1	82	1	0	0	0	0	1	0	0	0	585	1261	44	3	1278	3	AMPD1	1	115221045	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	251160	115221045	134029576	20	21591											
CD2	914	genome.wustl.edu	37	chr1	117311133	117311133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtagctactgaagaaaggGgccggaagccccaccaaatt	14	5	12	10	1	0	2	0	1	0	1	0	4	0	3	4	3	3	2	4	3	6	3	rs373098399		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:117311133G>A	ENST00000369478.3	+	5	892	c.784G>A	c.(784-786)Ggc>Agc	p.G262S		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	262					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGAAGAAAGGGGCCGGAAGCC	0.512																																					NSCLC(14;263 555 26380 43512 51332)												0								G	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	66	63	64		784	-2.4	0	1		64	0,8600		0,0,4300	no	missense	CD2	NM_001767.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	262/352	117311133	1,13005	2203	4300	6503	SO:0001583	missense	0			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	1639	protein-coding gene	gene with protein product		186990	"CD2 antigen (p50), sheep red blood cell receptor"	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.784G>A	1.37:g.117311133G>A	ENSP00000358490:p.Gly262Ser		Q96TE5	Missense_Mutation	SNP	pfam_Ig_C2-set,pfam_Ig_V-set,prints_CD2	p.G262S	ENST00000369478.3	37	c.784	CCDS889.1	1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584012	0.28268	2.27E-4	0.0	ENSG00000116824	ENST00000369478	T	0.42900	0.96	5.14	-2.41	0.06562	.	1.102310	0.06788	N	0.786583	T	0.10809	0.0264	L	0.35854	1.095	0.09310	N	1	B	0.21905	0.062	B	0.20767	0.031	T	0.31861	-0.9928	10	0.10377	T	0.69	-1.9949	9.5221	0.39143	0.5178:0.0:0.4822:0.0	.	262	P06729	CD2_HUMAN	S	262	ENSP00000358490:G262S	ENSP00000358490:G262S	G	+	1	0	CD2	117112656	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.330000	0.07925	-0.444000	0.07170	-0.290000	0.09829	GGC	CD2	-	NULL	ENSG00000116824		0.512	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2	HGNC	protein_coding	OTTHUMT00000059039.2	-	0	40	0	G	NM_001767		117311133	1	tier1	-	no_errors	ENST00000369478	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	A	A	117311133	G	A	117311133	3	1	82	1	0	0	0	0	1	0	0	0	2986	1232	43	3	802	3	CD2	1	117311133	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2090088	117311133	131939488	21	21592											
TTF2	8458	genome.wustl.edu	37	chr1	117633213	117633213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttctgaagatgaagaGactgtttacaatgtgttttt	12	16	9	4	0	1	4	0	2	1	2	1	5	1	4	0	0	2	3	0	0	5	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:117633213G>T	ENST00000369466.4	+	15	2600	c.2556G>T	c.(2554-2556)gaG>gaT	p.E852D		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	852					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGATGAAGAGACTGTTTACA	0.368																																																	0													123	118	120					1																	117633213		2203	4300	6503	SO:0001583	missense	0			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 6"	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2556G>T	1.37:g.117633213G>T	ENSP00000358478:p.Glu852Asp		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E852D	ENST00000369466.4	37	c.2556	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862220	0.51482	.	.	ENSG00000116830	ENST00000369466	T	0.76448	-1.02	5.34	3.33	0.38152	SNF2-related (1);	0.431628	0.17194	N	0.183390	T	0.63212	0.2492	L	0.58583	1.82	0.09310	N	1	P	0.39424	0.673	B	0.43445	0.42	T	0.59172	-0.7504	10	0.72032	D	0.01	-9.0691	6.9295	0.24434	0.2084:0.0:0.7916:0.0	.	852	Q9UNY4	TTF2_HUMAN	D	852	ENSP00000358478:E852D	ENSP00000358478:E852D	E	+	3	2	TTF2	117434736	0.992000	0.36948	0.396000	0.26296	0.996000	0.88848	1.964000	0.40462	1.478000	0.48253	0.655000	0.94253	GAG	TTF2	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000116830		0.368	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	-	0	77	0	G			117633213	1	tier1	-	no_errors	ENST00000369466	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.165	T	T	117633213	G	T	117633213	3	4	82	1	0	0	0	0	1	0	0	0	16768	933	33	3	2614	3	TTF2	1	117633213	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	322080	117633213	131617408	22	21593											
HRNR	388697	genome.wustl.edu	37	chr1	152191913	152191913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgactgtcctgacctaGagccgtgttttctgtagccg	7	13	11	10	2	1	4	0	2	1	2	2	4	2	4	4	0	2	2	4	0	3	5	rs370652380		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:152191913G>A	ENST00000368801.2	-	3	2267	c.2192C>T	c.(2191-2193)tCt>tTt	p.S731F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	731					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACCTAGAGCCGTGTTT	0.542																																																	0													203	200	201					1																	152191913		2203	4300	6503	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2192C>T	1.37:g.152191913G>A	ENSP00000357791:p.Ser731Phe		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S731F	ENST00000368801.2	37	c.2192	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	2.723	-0.266083	0.05754	.	.	ENSG00000197915	ENST00000368801	T	0.03635	3.86	2.62	0.549	0.17213	.	.	.	.	.	T	0.02267	0.0070	L	0.46157	1.445	0.09310	N	1	D	0.55172	0.97	P	0.53313	0.723	T	0.43861	-0.9365	9	0.40728	T	0.16	.	4.9685	0.14103	0.0:0.2386:0.5164:0.245	.	731	Q86YZ3	HORN_HUMAN	F	731	ENSP00000357791:S731F	ENSP00000357791:S731F	S	-	2	0	HRNR	150458537	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.209000	0.09358	0.008000	0.14787	-0.291000	0.09656	TCT	HRNR	-	NULL	ENSG00000197915		0.542	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	131	0	G	XM_373868		152191913	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	18.02	91	20	SNP	0.000	A	A	152191913	G	A	152191913	3	1	82	1	0	0	0	0	1	0	0	0	7386	942	33	3	6364	3	HRNR	1	152191913	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	34558700	152191913	97058708	23	21594											
DCST1	149095	genome.wustl.edu	37	chr1	155013913	155013913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagagactcggaacatctCcgccacttttgaggacctgg	10	8	11	12	2	1	2	0	1	1	1	3	5	1	4	3	3	2	1	3	3	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:155013913C>A	ENST00000295542.1	+	7	668	c.572C>A	c.(571-573)tCc>tAc	p.S191Y	DCST1_ENST00000423025.2_Missense_Mutation_p.S166Y|DCST1_ENST00000392480.1_Missense_Mutation_p.S191Y|DCST1_ENST00000368419.2_Missense_Mutation_p.S191Y	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	191						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CGGAACATCTCCGCCACTTTT	0.582																																																	0													47	46	46					1																	155013913		2203	4300	6503	SO:0001583	missense	0			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.572C>A	1.37:g.155013913C>A	ENSP00000295542:p.Ser191Tyr		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.S191Y	ENST00000295542.1	37	c.572	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635835	0.47049	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.29	4.29	0.51040	.	0.729827	0.11580	N	0.549879	T	0.38719	0.1051	L	0.50333	1.59	0.31902	N	0.615778	P;P;P	0.48089	0.905;0.893;0.883	B;B;B	0.43052	0.386;0.406;0.312	T	0.39187	-0.9626	10	0.59425	D	0.04	-20.8804	8.2697	0.31836	0.0:0.8928:0.0:0.1071	.	166;216;191	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	Y	191;191;166;191	ENSP00000295542:S191Y;ENSP00000376271:S191Y;ENSP00000387369:S166Y;ENSP00000357404:S191Y	ENSP00000295542:S191Y	S	+	2	0	DCST1	153280537	0.908000	0.30866	0.853000	0.33588	0.109000	0.19521	1.783000	0.38664	2.403000	0.81681	0.313000	0.20887	TCC	DCST1	-	NULL	ENSG00000163357		0.582	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	-	0	46	0	C	NM_152494		155013913	1	tier1	-	no_errors	ENST00000295542	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.730	A	A	155013913	C	A	155013913	3	1	82	1	0	0	0	0	1	0	0	0	4311	855	30	3	594	3	DCST1	1	155013913	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2822000	155013913	94236708	24	21595											
ASH1L	55870	genome.wustl.edu	37	chr1	155448058	155448058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggacatgtgacaacGgtgcttttccttatgcttat	9	13	11	8	1	0	1	0	1	0	0	1	2	1	2	1	3	3	3	1	3	3	4	rs563815033		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:155448058G>T	ENST00000368346.3	-	3	5242	c.4603C>A	c.(4603-4605)Cgt>Agt	p.R1535S	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1535S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1535					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGTGACAACGGTGCTTTTCC	0.468																																																	0													160	151	154					1																	155448058		2203	4300	6503	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4603C>A	1.37:g.155448058G>T	ENSP00000357330:p.Arg1535Ser		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R1535S	ENST00000368346.3	37	c.4603		1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657348	0.47467	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89050	-2.46;-2.46	5.44	4.5	0.54988	.	0.345742	0.26421	N	0.024466	D	0.85617	0.5738	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.79108	0.982;0.992	D	0.89195	0.3553	10	0.72032	D	0.01	.	12.8472	0.57837	0.0:0.0:0.5863:0.4137	.	1535;1535	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	1535	ENSP00000357330:R1535S;ENSP00000376204:R1535S	ENSP00000357330:R1535S	R	-	1	0	ASH1L	153714682	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.194000	0.32174	1.466000	0.48025	0.655000	0.94253	CGT	ASH1L	-	NULL	ENSG00000116539		0.468	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	-	0	71	0	G	NM_018489		155448058	-1	tier1	-	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	155448058	G	T	155448058	3	4	82	1	0	0	0	0	1	0	0	0	1042	1116	39	2	4395	2	ASH1L	1	155448058	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	434145	155448058	93802563	25	21596											
ETV3	2117	genome.wustl.edu	37	chr1	157095505	157095505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcaggcttgcgtttctGatggccaatccctcctccac	6	13	8	14	1	2	1	1	1	1	0	5	1	5	1	4	2	1	2	4	2	2	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:157095505G>T	ENST00000368192.4	-	5	731	c.667C>A	c.(667-669)Cag>Aag	p.Q223K		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	223					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTGCGTTTCTGATGGCCAATC	0.597																																																	0													89	88	88					1																	157095505		692	1591	2283	SO:0001583	missense	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.667C>A	1.37:g.157095505G>T	ENSP00000357175:p.Gln223Lys		B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.Q223K	ENST00000368192.4	37	c.667	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739529	0.30774	.	.	ENSG00000117036	ENST00000368192	T	0.14144	2.53	4.85	3.93	0.45458	.	0.214071	0.30930	N	0.008586	T	0.04907	0.0132	L	0.44542	1.39	0.80722	D	1	B	0.23540	0.087	B	0.20767	0.031	T	0.15464	-1.0436	10	0.14656	T	0.56	.	13.829	0.63368	0.0:0.0:0.8455:0.1545	.	223	P41162	ETV3_HUMAN	K	223	ENSP00000357175:Q223K	ENSP00000357175:Q223K	Q	-	1	0	ETV3	155362129	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	4.748000	0.62148	1.381000	0.46364	0.561000	0.74099	CAG	ETV3	-	NULL	ENSG00000117036		0.597	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	HGNC	protein_coding	OTTHUMT00000082843.2	-	0	53	0	G	NM_005240		157095505	-1	tier1	-	no_errors	ENST00000368192	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.999	T	T	157095505	G	T	157095505	3	4	82	1	0	0	0	0	1	0	0	0	5295	1299	45	3	875	3	ETV3	1	157095505	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1647447	157095505	92155116	26	21597											
VANGL2	57216	genome.wustl.edu	37	chr1	160394067	160394067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcacgcatgacatgacGcccaaggtaggcctgccctg	9	7	11	14	2	1	2	1	2	0	0	1	2	1	2	3	2	2	3	3	2	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:160394067G>A	ENST00000368061.2	+	7	1773	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	433					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGACATGACGCCCAAGGTAG	0.547																																																	0													115	81	93					1																	160394067		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1299G>A	1.37:g.160394067G>A			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.T433	ENST00000368061.2	37	c.1299	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.547	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0	57	0	G	NM_020335		160394067	1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.996	A	A	160394067	G	A	160394067	2	1	82	1	0	0	0	0	0	0	0	1	17169	1074	38	1		1	VANGL2	1	160394067	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3298562	160394067	88856554	27	21598											
B4GALT3	8703	genome.wustl.edu	37	chr1	161144995	161144995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccagtgatggcactgggcTaaaggacaccgacacaggac	12	5	13	11	1	0	1	0	1	0	0	0	4	0	3	2	4	1	2	2	4	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:161144995T>C	ENST00000319769.5	-	4	499	c.277A>G	c.(277-279)Agc>Ggc	p.S93G	B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.S93G	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	93					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GGCACTGGGCTAAAGGACACC	0.577																																																	0													50	49	49					1																	161144995		2203	4300	6503	SO:0001583	missense	0			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.277A>G	1.37:g.161144995T>C	ENSP00000320965:p.Ser93Gly		D3DVG3|O60910|Q9BPZ4|Q9H8T2	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.S93G	ENST00000319769.5	37	c.277	CCDS1222.1	1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.815255	0.50527	.	.	ENSG00000158850	ENST00000319769;ENST00000407555;ENST00000541560;ENST00000310413;ENST00000367998;ENST00000367997	T;T	0.24350	1.86;1.86	5.14	5.14	0.70334	.	0.337365	0.38959	N	0.001509	T	0.12220	0.0297	L	0.58428	1.81	0.34521	D	0.708124	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.004	T	0.07986	-1.0744	10	0.51188	T	0.08	-16.5713	7.5497	0.27788	0.0:0.0928:0.0:0.9072	.	93;93	B3KPV4;O60512	.;B4GT3_HUMAN	G	93;70;93;93;93;93	ENSP00000320965:S93G;ENSP00000356977:S93G	ENSP00000308551:S93G	S	-	1	0	B4GALT3	159411619	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.732000	0.38146	2.155000	0.67459	0.460000	0.39030	AGC	B4GALT3	-	pfam_Galactosyl_T_C	ENSG00000158850		0.577	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	HGNC	protein_coding	OTTHUMT00000083054.1	-	0	60	0	T	NM_003779		161144995	-1	tier1	-	no_errors	ENST00000319769	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	C	C	161144995	T	C	161144995	3	2	82	1	0	0	0	0	1	0	0	0	1273	1522	53	4	924	4	B4GALT3	1	161144995	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	750928	161144995	88105626	28	21599											
SCYL3	57147	genome.wustl.edu	37	chr1	169823906	169823907	+	Frame_Shift_Ins	INS	-	-	GA																															catccaaggtagtgcactggINSgacttgacatcatcacaagg																								rs146013542		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:169823906_169823907insGA	ENST00000367770.1	-	12	1720_1721	c.1673_1674insTC	c.(1672-1674)tccfs	p.S558fs	SCYL3_ENST00000367772.4_Frame_Shift_Ins_p.S558fs|SCYL3_ENST00000367771.6_Frame_Shift_Ins_p.S504fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	558	Interaction with EZR.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGTGCACTGGGACTTGACATC	0.48																																																	0																																										SO:0001589	frameshift_variant	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"ezrin-binding partner PACE-1"	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.1672_1673dupTC	1.37:g.169823907_169823908dupGA	ENSP00000356744:p.Ser558fs		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom	p.Q559fs	ENST00000367770.1	37	c.1674_1673	CCDS1287.1	1																																																																																			SCYL3	-	NULL	ENSG00000000457		0.48	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4		0	56	0	-	NM_181093		169823907	-1	tier1		no_errors	ENST00000367770	ensembl	human	known	74_37	frame_shift_ins	12.90	54	8	INS	0.004:0.312	GA	GA	169823907	-	GA	169823906	7	5	82	1	0	1	1	0	0	0	0	0	13994	1219	43	0	562	0	SCYL3	1	169823906	Frame_Shift_Ins	INS	-	TCGA-L5-A8NH-01A-11D-A37C-09	8678911	169823906	79426715	29	21600											
BAT2L2	23215	genome.wustl.edu	37	chr1	171492410	171492410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcctctgagcctgaacGcccatccattcttagtgcat	8	11	9	13	1	2	2	0	2	2	0	3	2	3	2	4	1	3	1	4	1	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:171492410G>A	ENST00000338920.4	+	8	1115	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R295H|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R293H|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R295H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	293					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GAGCCTGAACGCCCATCCATT	0.443																																																	0													56	52	54					1																	171492410		2203	4300	6503	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.878G>A	1.37:g.171492410G>A	ENSP00000343629:p.Arg293His		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.R295H	ENST00000338920.4	37	c.884	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341813	0.61073	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.03920	3.77;3.77;3.76;3.76	5.23	5.23	0.72850	.	0.000000	0.43260	U	0.000582	T	0.17066	0.0410	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.01048	-1.1469	10	0.72032	D	0.01	.	18.8324	0.92145	0.0:0.0:1.0:0.0	.	293;295	Q9Y520-4;E7EPN9	.;.	H	295;293;293;295;293;49;51	ENSP00000375928:R295H;ENSP00000410219:R293H;ENSP00000356716:R295H;ENSP00000343629:R293H	ENSP00000343629:R293H	R	+	2	0	PRRC2C	169759034	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.110000	0.94302	2.448000	0.82819	0.655000	0.94253	CGC	PRRC2C	-	NULL	ENSG00000117523		0.443	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0	49	0	G	NM_015172		171492410	1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	19.57	37	9	SNP	1.000	A	A	171492410	G	A	171492410	3	1	82	1	0	0	0	0	1	0	0	0	1322	1087	38	1	904	1	BAT2L2	1	171492410	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1668504	171492410	77758211	30	21601											
KCNT2	343450	genome.wustl.edu	37	chr1	196459008	196459008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttctagtagtactcggaTtatgtataataagcagctta	12	16	8	5	1	1	0	0	0	1	0	2	1	1	1	0	1	3	6	0	1	8	10			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:196459008T>A	ENST00000294725.9	-	3	1150	c.235A>T	c.(235-237)Atc>Ttc	p.I79F	KCNT2_ENST00000609185.1_Missense_Mutation_p.I79F|KCNT2_ENST00000367431.4_Missense_Mutation_p.I79F|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.I79F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	79					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACTCGGATTATGTATAAT	0.303																																																	0													103	112	109					1																	196459008		2203	4292	6495	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.235A>T	1.37:g.196459008T>A	ENSP00000294725:p.Ile79Phe		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.I79F	ENST00000294725.9	37	c.235	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.140930	0.37825	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18960	2.18;2.19;2.45	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000009	T	0.13030	0.0316	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.14012	0.005;0.002;0.009;0.005	B;B;B;B	0.16289	0.006;0.005;0.015;0.006	T	0.09930	-1.0652	10	0.35671	T	0.21	-6.4588	8.2032	0.31436	0.0:0.0893:0.0:0.9107	.	79;79;79;79	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	F	79	ENSP00000356403:I79F;ENSP00000356401:I79F;ENSP00000294725:I79F	ENSP00000294725:I79F	I	-	1	0	KCNT2	194725631	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	0.464000	0.21988	2.154000	0.67381	0.533000	0.62120	ATC	KCNT2	-	NULL	ENSG00000162687		0.303	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	-	0	45	0	T	NM_198503		196459008	-1	tier1	-	no_errors	ENST00000294725	ensembl	human	known	74_37	missense	56.16	32	41	SNP	1.000	A	A	196459008	T	A	196459008	3	1	82	1	0	0	0	0	1	0	0	0	8119	1493	52	5	3276	5	KCNT2	1	196459008	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	24966598	196459008	52791613	31	21602											
IGFN1	91156	genome.wustl.edu	37	chr1	201181077	201181077	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctggggaaacgggaccAgagggtaagatgggttatgg	11	7	19	4	1	1	2	0	0	1	2	1	5	1	5	1	7	1	2	1	7	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:201181077A>G	ENST00000335211.4	+	12	7186	c.7056A>G	c.(7054-7056)ccA>ccG	p.P2352P	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAACGGGACCAGAGGGTAAGA	0.562																																																	0													23	18	19					1																	201181077		691	1591	2282	SO:0001819	synonymous_variant	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.7056A>G	1.37:g.201181077A>G			F8WAI1|Q9NT72	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P2352	ENST00000335211.4	37	c.7056	CCDS53455.1	1																																																																																			IGFN1	-	NULL	ENSG00000163395		0.562	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0	87	0	A	NM_178275		201181077	1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	silent	25.71	52	18	SNP	0.001	G	G	201181077	A	G	201181077	2	3	82	1	0	0	0	0	0	0	0	1	7617	175	7	4		4	IGFN1	1	201181077	Silent	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	4722069	201181077	48069544	32	21603											
LMOD1	25802	genome.wustl.edu	37	chr1	201869875	201869875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttggtctccacttgcttgCtttcctaagaattcagaaaa	10	15	6	10	0	3	2	1	0	2	2	5	2	4	2	2	1	2	2	2	1	4	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:201869875C>T	ENST00000367288.4	-	2	512	c.266G>A	c.(265-267)aGc>aAc	p.S89N	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	89					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CACTTGCTTGCTTTCCTAAGA	0.502																																																	0													39	39	39					1																	201869875		1870	4102	5972	SO:0001583	missense	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.266G>A	1.37:g.201869875C>T	ENSP00000356257:p.Ser89Asn		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.S89N	ENST00000367288.4	37	c.266	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.458435	0.43634	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.12672	2.66	5.77	3.9	0.45041	.	0.287586	0.25009	N	0.033851	T	0.16300	0.0392	L	0.55481	1.735	0.24650	N	0.993528	P;P	0.43231	0.801;0.801	B;B	0.43413	0.419;0.419	T	0.05886	-1.0858	10	0.31617	T	0.26	-27.8988	11.0002	0.47600	0.0:0.8467:0.0:0.1533	.	89;89	B4E3S9;P29536	.;LMOD1_HUMAN	N	89	ENSP00000356257:S89N	ENSP00000356257:S89N	S	-	2	0	LMOD1	200136498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.091000	0.30915	0.781000	0.33589	0.655000	0.94253	AGC	LMOD1	-	NULL	ENSG00000163431		0.502	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	-	0	51	0	C			201869875	-1	tier1	-	no_errors	ENST00000367288	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	201869875	C	T	201869875	3	4	82	1	0	0	0	0	1	0	0	0	8886	797	28	3	1544	3	LMOD1	1	201869875	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	688798	201869875	47380746	33	21604											
TIMM17A	10440	genome.wustl.edu	37	chr1	201932755	201932755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaaataggtagctttgcaGtttggggagggctgttttcc	9	14	13	5	0	0	0	0	0	0	0	1	1	1	1	1	4	2	6	1	4	4	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:201932755G>T	ENST00000367287.4	+	4	238	c.202G>T	c.(202-204)Gtt>Ttt	p.V68F	TIMM17A_ENST00000482943.1_3'UTR	NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	68					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|lung(3)|stomach(1)	5						TAGCTTTGCAGTTTGGGGAGG	0.363																																																	0													95	93	94					1																	201932755		2203	4300	6503	SO:0001583	missense	0			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.202G>T	1.37:g.201932755G>T	ENSP00000356256:p.Val68Phe		B2RDM5|Q9BWF5	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17	p.V68F	ENST00000367287.4	37	c.202	CCDS1417.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779298	0.70107	.	.	ENSG00000134375	ENST00000367287	T	0.34072	1.38	5.35	3.44	0.39384	.	0.051515	0.85682	D	0.000000	T	0.67135	0.2861	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74945	-0.3491	10	0.87932	D	0	-3.4185	10.5138	0.44876	0.1701:0.0:0.8299:0.0	.	68	Q99595	TI17A_HUMAN	F	68	ENSP00000356256:V68F	ENSP00000356256:V68F	V	+	1	0	TIMM17A	200199378	1.000000	0.71417	0.985000	0.45067	0.739000	0.42172	5.194000	0.65125	1.387000	0.46486	0.655000	0.94253	GTT	TIMM17A	-	pfam_Tim17/Tim22/Tim23/PMP24,tigrfam_Tim17	ENSG00000134375		0.363	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM17A	HGNC	protein_coding	OTTHUMT00000087092.1	-	0	71	0	G	NM_006335		201932755	1	tier1	-	no_errors	ENST00000367287	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.996	T	T	201932755	G	T	201932755	3	4	82	1	0	0	0	0	1	0	0	0	15955	1029	36	3	216	3	TIMM17A	1	201932755	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	62880	201932755	47317866	34	21605											
CD46	4179	genome.wustl.edu	37	chr1	207930986	207930986	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcactttatttgtaatgagGggtaagttgctccttagagg	9	15	12	5	0	0	2	0	1	0	1	1	2	1	2	1	3	2	5	1	3	4	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:207930986G>T	ENST00000358170.2	+	3	544	c.388G>T	c.(388-390)Ggt>Tgt	p.G130C	CD46_ENST00000360212.2_Splice_Site_p.G130C|CD46_ENST00000361067.1_Splice_Site_p.G130C|CD46_ENST00000322875.4_Splice_Site_p.G130C|CD46_ENST00000441839.2_Splice_Site_p.G130C|CD46_ENST00000354848.1_Splice_Site_p.G130C|CD46_ENST00000367047.1_Splice_Site_p.G67C|CD46_ENST00000367041.1_Splice_Site_p.G130C|CD46_ENST00000322918.5_Splice_Site_p.G130C|CD46_ENST00000480003.1_Splice_Site_p.G130C|CD46_ENST00000357714.1_Splice_Site_p.G130C|CD46_ENST00000367042.1_Splice_Site_p.G130C|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	130	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TTGTAATGAGGGGTAAGTTGC	0.358																																																	0													47	44	45					1																	207930986		2203	4300	6503	SO:0001630	splice_region_variant	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.389+1G>T	1.37:g.207930986G>T			A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G130C	ENST00000358170.2	37	c.388	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.218212	0.39201	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.07	4.07	0.47477	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.44285	D	0.000465	D	0.92485	0.7614	H	0.99182	4.46	0.54753	D	0.999989	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94360	0.7587	10	0.87932	D	0	.	11.9311	0.52847	0.0:0.0:1.0:0.0	.	130;130;130;130;130;130;130;130;130;130;130;130;130;130	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	C	130;130;130;130;130;130;130;67;130;130;130;130	ENSP00000350893:G130C;ENSP00000346912:G130C;ENSP00000314664:G130C;ENSP00000356009:G130C;ENSP00000356008:G130C;ENSP00000350346:G130C;ENSP00000313875:G130C;ENSP00000356014:G67C;ENSP00000413543:G130C;ENSP00000354358:G130C;ENSP00000353342:G130C;ENSP00000418471:G130C	ENSP00000313875:G130C	G	+	1	0	CD46	205997609	0.995000	0.38212	0.910000	0.35882	0.109000	0.19521	3.625000	0.54238	2.251000	0.74343	0.491000	0.48974	GGT	CD46	-	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.358	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3		0	63	0	G	NM_172361	Missense_Mutation	207930986	1			no_errors	ENST00000322875	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.941	T	T	207930986	G	T	207930986	5	4	82	1	0	0	0	0	0	0	1	0	3025	1246	43	3	398	3	CD46	1	207930986	Splice_Site	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	5998231	207930986	41319635	35	21606											
HHAT	55733	genome.wustl.edu	37	chr1	210796984	210796984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggcaatgaggttgggAaaacctactggaataggatc	12	9	15	5	0	0	1	0	1	0	0	1	4	0	4	1	6	2	2	1	6	6	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:210796984A>G	ENST00000367010.1	+	11	1587	c.1360A>G	c.(1360-1362)Aaa>Gaa	p.K454E	HHAT_ENST00000413764.2_Missense_Mutation_p.K454E|HHAT_ENST00000541565.1_Missense_Mutation_p.K317E|HHAT_ENST00000537898.1_Missense_Mutation_p.K389E|HHAT_ENST00000261458.3_Missense_Mutation_p.K454E|HHAT_ENST00000391905.3_Missense_Mutation_p.K454E|HHAT_ENST00000545154.1_Missense_Mutation_p.K455E|HHAT_ENST00000545781.1_Missense_Mutation_p.K391E|HHAT_ENST00000308852.6_Missense_Mutation_p.K409E|HHAT_ENST00000367009.1_Missense_Mutation_p.K144E	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	454	GTP-binding. {ECO:0000305}.				multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		TGAGGTTGGGAAAACCTACTG	0.483																																																	0													285	271	276					1																	210796984		2203	4300	6503	SO:0001583	missense	0			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1360A>G	1.37:g.210796984A>G	ENSP00000355977:p.Lys454Glu		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	pfam_MBOAT_fam	p.K454E	ENST00000367010.1	37	c.1360	CCDS1495.1	1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.391264	0.42410	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.44083	2.26;0.93;2.25;2.27;2.27;2.27;2.26;2.25;2.26;0.96	6.16	2.33	0.28932	.	0.155147	0.56097	D	0.000026	T	0.24084	0.0583	N	0.22421	0.69	0.28512	N	0.913505	B;B;B;B;B	0.15473	0.001;0.006;0.013;0.004;0.001	B;B;B;B;B	0.13407	0.003;0.009;0.005;0.004;0.002	T	0.14420	-1.0473	10	0.22109	T	0.4	-6.6976	7.0385	0.25006	0.5799:0.3437:0.0764:0.0	.	409;455;317;389;454	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	E	454;317;455;389;454;391;454;409;454;144	ENSP00000416845:K454E;ENSP00000444995:K317E;ENSP00000438468:K455E;ENSP00000442625:K389E;ENSP00000375773:K454E;ENSP00000439229:K391E;ENSP00000261458:K454E;ENSP00000308628:K409E;ENSP00000355977:K454E;ENSP00000355976:K144E	ENSP00000261458:K454E	K	+	1	0	HHAT	208863607	0.980000	0.34600	0.998000	0.56505	0.947000	0.59692	3.019000	0.49635	0.511000	0.28236	0.528000	0.53228	AAA	HHAT	-	NULL	ENSG00000054392		0.483	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HHAT	HGNC	protein_coding	OTTHUMT00000088662.1	-	0	109	0	A	NM_018194		210796984	1	tier1	-	no_errors	ENST00000391905	ensembl	human	known	74_37	missense	17.80	97	21	SNP	0.977	G	G	210796984	A	G	210796984	3	3	82	1	0	0	0	0	1	0	0	0	7116	247	9	4	1496	4	HHAT	1	210796984	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	2865998	210796984	38453637	36	21607											
CENPF	1063	genome.wustl.edu	37	chr1	214814805	214814805	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatgaggatcttagtcaaAaatacaaagcagcacaggaa	19	7	8	7	0	2	1	1	1	1	0	2	3	2	3	0	2	3	2	0	2	7	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:214814805A>T	ENST00000366955.3	+	12	3292	c.3124A>T	c.(3124-3126)Aaa>Taa	p.K1042*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K1042Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCTTAGTCAAAAATACAAAGC	0.323																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - Missense(1)	large_intestine(1)											47	53	51					1																	214814805		2203	4299	6502	SO:0001587	stop_gained	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3124A>T	1.37:g.214814805A>T	ENSP00000355922:p.Lys1042*		Q13171|Q13246|Q5VVM7	Nonsense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.K1042*	ENST00000366955.3	37	c.3124	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	A	40	8.447118	0.98815	.	.	ENSG00000117724	ENST00000366955	.	.	.	4.86	3.7	0.42460	.	0.576602	0.14479	N	0.317056	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9839	0.24718	0.7731:0.1476:0.0793:0.0	.	.	.	.	X	1042	.	ENSP00000355922:K1042X	K	+	1	0	CENPF	212881428	0.986000	0.35501	0.242000	0.24170	0.749000	0.42624	2.670000	0.46833	0.767000	0.33267	0.496000	0.49642	AAA	CENPF	-	NULL	ENSG00000117724		0.323	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1		0	30	0	A	NM_016343		214814805	1			no_errors	ENST00000366955	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.812	T	T	214814805	A	T	214814805	4	4	82	1	0	0	0	0	0	1	0	0	3238	15	1	5	3166	5	CENPF	1	214814805	Nonsense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	4017821	214814805	34435816	37	21608											
USH2A	7399	genome.wustl.edu	37	chr1	215853681	215853681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgcgatatgttgtgaatGgttctaacccgtacaggtgg	10	12	12	7	2	1	1	0	1	1	0	1	2	1	1	1	3	3	3	1	3	5	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:215853681G>T	ENST00000307340.3	-	62	12490	c.12104C>A	c.(12103-12105)cCa>cAa	p.P4035Q	USH2A_ENST00000366943.2_Missense_Mutation_p.P4035Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4035	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P4035R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTTGTGAATGGTTCTAACCC	0.403										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	endometrium(1)											114	119	118					1																	215853681		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12104C>A	1.37:g.215853681G>T	ENSP00000305941:p.Pro4035Gln		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P4035Q	ENST00000307340.3	37	c.12104	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076481	0.55753	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.68624	-0.34;-0.34	5.26	5.26	0.73747	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.154271	0.30142	N	0.010308	D	0.86760	0.6010	M	0.93328	3.405	0.58432	D	0.999995	D	0.76494	0.999	D	0.75020	0.985	D	0.90099	0.4183	10	0.72032	D	0.01	.	18.8769	0.92341	0.0:0.0:1.0:0.0	.	4035	O75445	USH2A_HUMAN	Q	4035	ENSP00000305941:P4035Q;ENSP00000355910:P4035Q	ENSP00000305941:P4035Q	P	-	2	0	USH2A	213920304	1.000000	0.71417	0.997000	0.53966	0.032000	0.12392	8.185000	0.89704	2.458000	0.83093	0.655000	0.94253	CCA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	43	0	G	NM_007123		215853681	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	215853681	G	T	215853681	3	4	82	1	0	0	0	0	1	0	0	0	17085	1348	47	3	3548	3	USH2A	1	215853681	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1038876	215853681	33396940	38	21609											
USH2A	7399	genome.wustl.edu	37	chr1	215990529	215990529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagacacccaatcaattTgaagagatctgcaacagaga	16	7	10	8	0	2	4	1	1	1	3	2	7	2	4	1	1	2	1	1	1	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:215990529T>C	ENST00000307340.3	-	48	9766	c.9380A>G	c.(9379-9381)cAa>cGa	p.Q3127R	USH2A_ENST00000366943.2_Missense_Mutation_p.Q3127R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3127	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAATCAATTTGAAGAGATCT	0.368										HNSCC(13;0.011)																																							0													80	80	80					1																	215990529		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9380A>G	1.37:g.215990529T>C	ENSP00000305941:p.Gln3127Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q3127R	ENST00000307340.3	37	c.9380	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	T	6.921	0.539684	0.13250	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52526	0.66;0.66	5.29	2.99	0.34606	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.330624	0.21608	N	0.071827	T	0.32763	0.0840	L	0.31926	0.97	0.31380	N	0.679124	B	0.06786	0.001	B	0.06405	0.002	T	0.28902	-1.0029	10	0.19590	T	0.45	.	9.4303	0.38606	0.0:0.1438:0.0:0.8562	.	3127	O75445	USH2A_HUMAN	R	3127	ENSP00000305941:Q3127R;ENSP00000355910:Q3127R	ENSP00000305941:Q3127R	Q	-	2	0	USH2A	214057152	0.920000	0.31207	0.756000	0.31282	0.825000	0.46686	1.343000	0.33930	0.436000	0.26393	0.459000	0.35465	CAA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	30	0	T	NM_007123		215990529	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.941	C	C	215990529	T	C	215990529	3	2	82	1	0	0	0	0	1	0	0	0	17085	1812	63	4	6328	4	USH2A	1	215990529	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	136848	215990529	33260092	39	21610											
SLC30A10	55532	genome.wustl.edu	37	chr1	220091782	220091782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatagaatatgatggccGtgatgaccacaaccacggac	14	6	10	11	2	0	4	0	3	0	1	0	5	0	5	3	2	1	1	3	2	4	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:220091782G>A	ENST00000366926.3	-	3	934	c.773C>T	c.(772-774)aCg>aTg	p.T258M	SLC30A10_ENST00000536446.1_Missense_Mutation_p.T13M|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	258					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TATGATGGCCGTGATGACCAC	0.512																																					Colon(76;360 1614 43677 51136)												0													164	144	151					1																	220091782		2203	4300	6503	SO:0001583	missense	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.773C>T	1.37:g.220091782G>A	ENSP00000355893:p.Thr258Met		Q49AL9|Q9NPW0	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.T258M	ENST00000366926.3	37	c.773	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344702	0.82022	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.63580	-0.05;-0.05	6.02	6.02	0.97574	.	0.244211	0.42821	D	0.000642	T	0.80132	0.4567	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.65773	0.938	T	0.78645	-0.2123	9	.	.	.	-20.5412	20.5269	0.99230	0.0:0.0:1.0:0.0	.	258	Q6XR72	ZNT10_HUMAN	M	258;13	ENSP00000355893:T258M;ENSP00000439489:T13M	.	T	-	2	0	SLC30A10	218158405	1.000000	0.71417	0.969000	0.41365	0.981000	0.71138	6.125000	0.71627	2.859000	0.98148	0.591000	0.81541	ACG	SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000196660		0.512	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1		0	31	0	G	NM_018713		220091782	-1			no_errors	ENST00000366926	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.996	A	A	220091782	G	A	220091782	3	1	82	1	0	0	0	0	1	0	0	0	14599	1145	40	1	692	1	SLC30A10	1	220091782	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	4101253	220091782	29158839	40	21611											
NVL	4931	genome.wustl.edu	37	chr1	224514159	224514160	+	Frame_Shift_Ins	INS	-	-	TA																															tttgccacatttgttactggINStaaggtactaaaacagaaaa																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:224514159_224514160insTA	ENST00000281701.6	-	2	323_324	c.64_65insTA	c.(64-66)accfs	p.T22fs	NVL_ENST00000340871.4_Intron|NVL_ENST00000468673.1_5'UTR|NVL_ENST00000361463.3_Intron|NVL_ENST00000482491.1_Intron|NVL_ENST00000391875.2_Intron|NVL_ENST00000469075.1_Frame_Shift_Ins_p.T22fs	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	22						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTTGTTACTGGTAAGGTACTAA	0.317																																																	0																																										SO:0001589	frameshift_variant	0			U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"ATPases / AAA-type"	8070	protein-coding gene	gene with protein product	"Nuclear valosin-containing protein-like", "nuclear VCP-like protein"	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.63_64dupTA	1.37:g.224514160_224514161dupTA	ENSP00000281701:p.Thr22fs		B4DMC4|B4DP98|Q96EM7	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T22fs	ENST00000281701.6	37	c.65_64	CCDS1541.1	1																																																																																			NVL	-	NULL	ENSG00000143748		0.317	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NVL	HGNC	protein_coding	OTTHUMT00000091453.2		0	55	0	-	NM_002533		224514160	-1	tier1		no_errors	ENST00000281701	ensembl	human	known	74_37	frame_shift_ins	11.84	67	9	INS	0.935:0.900	TA	TA	224514160	-	TA	224514159	7	5	82	1	0	1	1	0	0	0	0	0	10819	1261	44	0	2593	0	NVL	1	224514159	Frame_Shift_Ins	INS	-	TCGA-L5-A8NH-01A-11D-A37C-09	4422377	224514159	24736462	41	21612											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232581352	232581352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgctggagcagctgttgGcacggcagccggtcgggcgt	4	7	18	12	4	0	0	0	0	0	0	1	1	0	1	2	5	4	6	2	5	0	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr1:232581352G>A	ENST00000366630.1	-	10	3634	c.3276C>T	c.(3274-3276)tgC>tgT	p.C1092C	SIPA1L2_ENST00000308942.4_Silent_p.C166C|SIPA1L2_ENST00000262861.4_Silent_p.C1092C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1092					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGCTGTTGGCACGGCAGCC	0.662																																																	0													23	30	28					1																	232581352		2001	4156	6157	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3276C>T	1.37:g.232581352G>A			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.C1092	ENST00000366630.1	37	c.3276	CCDS41474.1	1																																																																																			SIPA1L2	-	NULL	ENSG00000116991		0.662	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1		0	74	0	G	XM_045839		232581352	-1			no_errors	ENST00000262861	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	A	A	232581352	G	A	232581352	2	1	82	1	0	0	0	0	0	0	0	1	14375	1195	42	3		3	SIPA1L2	1	232581352	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	8067193	232581352	16669269	42	21613											
HS1BP3	64342	genome.wustl.edu	37	chr2	20824580	20824580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagggtccacctcctcGtcaaagatggtgagccgggg	8	8	13	12	2	3	2	3	1	0	1	6	2	5	2	4	4	1	0	4	4	1	0	rs376195521		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:20824580G>T	ENST00000304031.3	-	5	721	c.696C>A	c.(694-696)gaC>gaA	p.D232E		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	232	Pro-rich.						phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACCTCCTCGTCAAAGATGG	0.592																																																	0													79	85	83					2																	20824580		2203	4300	6503	SO:0001583	missense	0				CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.696C>A	2.37:g.20824580G>T	ENSP00000305193:p.Asp232Glu		B2RAW2|D6W529|Q86VC2|Q8N367	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.D232E	ENST00000304031.3	37	c.696	CCDS1700.1	2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606894	0.46527	.	.	ENSG00000118960	ENST00000304031;ENST00000458740	T;T	0.37235	1.9;1.21	4.7	-5.71	0.02413	.	0.540532	0.17848	N	0.159963	T	0.45013	0.1321	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.55522	-0.8128	10	0.20046	T	0.44	-8.5683	13.0135	0.58743	0.4017:0.0:0.5983:0.0	.	232	Q53T59	H1BP3_HUMAN	E	232;51	ENSP00000305193:D232E;ENSP00000392203:D51E	ENSP00000305193:D232E	D	-	3	2	HS1BP3	20688061	0.670000	0.27512	0.957000	0.39632	0.626000	0.37791	-0.513000	0.06305	-0.959000	0.03618	-2.048000	0.00412	GAC	HS1BP3	-	NULL	ENSG00000118960		0.592	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS1BP3	HGNC	protein_coding	OTTHUMT00000242863.1	-	0	77	0	G	NM_022460		20824580	-1	tier1	-	no_errors	ENST00000304031	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.914	T	T	20824580	G	T	20824580	3	4	82	1	0	0	0	0	1	0	0	0	7388	1136	40	2	494	2	HS1BP3	2	20824580	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		20824580	222374793	43	21614											
PFN4	375189	genome.wustl.edu	37	chr2	24342500	24342500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatacatgccctcagtgtaaGttgctaccagaagatacaga	14	9	9	9	0	1	3	1	0	0	3	1	4	1	3	2	0	5	3	2	0	5	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:24342500G>T	ENST00000313213.4	-	4	679	c.308C>A	c.(307-309)aCt>aAt	p.T103N	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	103					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAGTGTAAGTTGCTACCAG	0.453																																																	0													136	124	128					2																	24342500		2203	4300	6503	SO:0001583	missense	0			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.308C>A	2.37:g.24342500G>T	ENSP00000322170:p.Thr103Asn		Q53TL9	Missense_Mutation	SNP	pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_eukaryotes/bac	p.T103N	ENST00000313213.4	37	c.308	CCDS1709.1	2	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772126	0.69992	.	.	ENSG00000176732	ENST00000313213	D	0.86097	-2.07	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000004	D	0.90126	0.6915	M	0.64997	1.995	0.42298	D	0.992162	D	0.64830	0.994	D	0.65874	0.939	D	0.89287	0.3616	10	0.41790	T	0.15	-6.6912	15.0985	0.72253	0.0:0.0:1.0:0.0	.	103	Q8NHR9	PROF4_HUMAN	N	103	ENSP00000322170:T103N	ENSP00000322170:T103N	T	-	2	0	PFN4	24196004	1.000000	0.71417	0.997000	0.53966	0.728000	0.41692	3.845000	0.55880	2.721000	0.93114	0.650000	0.86243	ACT	PFN4	-	pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_eukaryotes/bac	ENSG00000176732		0.453	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFN4	HGNC	protein_coding	OTTHUMT00000207617.2	-	0	65	0	G	NM_199346		24342500	-1	tier1	-	no_errors	ENST00000313213	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.996	T	T	24342500	G	T	24342500	3	4	82	1	0	0	0	0	1	0	0	0	11809	1029	36	3	89	3	PFN4	2	24342500	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3517920	24342500	218856873	44	21615											
SLC5A6	8884	genome.wustl.edu	37	chr2	27427384	27427384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatactcctggtaatacGcgaacatgaccaggccaatg	12	8	11	10	2	0	1	0	1	0	0	1	3	1	2	3	3	3	1	3	3	5	3	rs199587675		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:27427384G>T	ENST00000310574.3	-	9	1423	c.950C>A	c.(949-951)gCg>gAg	p.A317E	SLC5A6_ENST00000408041.1_Missense_Mutation_p.A317E|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	317					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.A317V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CTGGTAATACGCGAACATGAC	0.597																																																	1	Substitution - Missense(1)	large_intestine(1)											99	95	96					2																	27427384		2203	4300	6503	SO:0001583	missense	0			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.950C>A	2.37:g.27427384G>T	ENSP00000310208:p.Ala317Glu		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A317E	ENST00000310574.3	37	c.950	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765159	0.49574	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.87650	-2.28;-2.28	4.93	2.04	0.26737	.	0.604283	0.16756	N	0.200821	D	0.92469	0.7609	M	0.89478	3.035	0.41268	D	0.98682	D	0.59357	0.985	D	0.65874	0.939	D	0.90510	0.4480	10	0.56958	D	0.05	.	7.2906	0.26364	0.1706:0.1441:0.6852:0.0	.	317	Q9Y289	SC5A6_HUMAN	E	317	ENSP00000310208:A317E;ENSP00000384853:A317E	ENSP00000310208:A317E	A	-	2	0	SLC5A6	27280888	0.999000	0.42202	0.226000	0.23910	0.215000	0.24574	3.539000	0.53604	0.585000	0.29608	0.655000	0.94253	GCG	SLC5A6	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000138074		0.597	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1		0	38	0	G	NM_021095		27427384	-1			no_errors	ENST00000310574	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.588	T	T	27427384	G	T	27427384	3	4	82	1	0	0	0	0	1	0	0	0	14714	1087	38	2	993	2	SLC5A6	2	27427384	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3084884	27427384	215771989	45	21616											
FAM82A1	151393	genome.wustl.edu	37	chr2	38216731	38216731	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtttgagggtttacaaaAcaaaatcaactatgggcacc	15	10	9	7	0	1	2	1	2	0	0	1	2	1	2	1	2	3	3	1	2	7	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:38216731A>C	ENST00000406384.1	+	6	1033	c.839A>C	c.(838-840)aAc>aCc	p.N280T	RMDN2_ENST00000234195.3_Missense_Mutation_p.N458T|RMDN2_ENST00000354545.2_Missense_Mutation_p.N280T|RMDN2_ENST00000407257.1_Missense_Mutation_p.N458T|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000417700.2_Missense_Mutation_p.N135T	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	280						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											GGTTTACAAAACAAAATCAAC	0.313																																																	0													164	149	154					2																	38216731		2203	4300	6503	SO:0001583	missense	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.839A>C	2.37:g.38216731A>C	ENSP00000386004:p.Asn280Thr		A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	NULL	p.N458T	ENST00000406384.1	37	c.1373	CCDS54351.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.84|18.84	3.709880|3.709880	0.68730|0.68730	.|.	.|.	ENSG00000115841|ENSG00000115841	ENST00000425641|ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	.|T;T;T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89;0.89;0.89	5.8|5.8	4.65|4.65	0.58169|0.58169	.|.	.|0.051452	.|0.85682	.|D	.|0.000000	T|T	0.50137|0.50137	0.1598|0.1598	L|L	0.37630|0.37630	1.12|1.12	0.39932|0.39932	D|D	0.974302|0.974302	.|P;D;D;D	.|0.76494	.|0.947;0.999;0.999;0.999	.|P;D;D;D	.|0.71656	.|0.754;0.974;0.974;0.974	T|T	0.49041|0.49041	-0.8980|-0.8980	5|10	.|0.41790	.|T	.|0.15	-2.2736|-2.2736	9.8636|9.8636	0.41129|0.41129	0.9194:0.0:0.0806:0.0|0.9194:0.0:0.0806:0.0	.|.	.|458;135;280;135	.|Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.|.;.;RMD2_HUMAN;.	N|T	14|280;280;458;135;458;135	.|ENSP00000346549:N280T;ENSP00000386004:N280T;ENSP00000385049:N458T;ENSP00000392977:N135T;ENSP00000234195:N458T;ENSP00000416367:N135T	.|ENSP00000234195:N458T	K|N	+|+	3|2	2|0	FAM82A1|FAM82A1	38070235|38070235	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.699000|3.699000	0.54778|0.54778	1.037000|1.037000	0.40024|0.40024	0.528000|0.528000	0.53228|0.53228	AAA|AAC	RMDN2	-	NULL	ENSG00000115841		0.313	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMDN2	HGNC	protein_coding	OTTHUMT00000325577.1	-	0	99	0	A	NM_144713		38216731	1	tier1	-	no_errors	ENST00000234195	ensembl	human	known	74_37	missense	10.00	99	11	SNP	1.000	C	C	38216731	A	C	38216731	3	2	82	1	0	0	0	0	1	0	0	0	5652	43	2	4	1851	4	FAM82A1	2	38216731	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	10789347	38216731	204982642	46	21617											
THADA	63892	genome.wustl.edu	37	chr2	43735819	43735819	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaattccagcactgcgccTtgtagcacagagtttagatg	11	10	11	9	1	0	2	0	0	0	2	1	3	1	3	2	1	3	4	2	1	3	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:43735819T>A	ENST00000405006.4	-	23	3826	c.3475A>T	c.(3475-3477)Agg>Tgg	p.R1159W	THADA_ENST00000330266.7_Missense_Mutation_p.R869W|THADA_ENST00000415080.2_Missense_Mutation_p.R869W|THADA_ENST00000405975.2_Missense_Mutation_p.R1159W	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1159										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCACTGCGCCTTGTAGCACAG	0.408																																																	0													90	87	88					2																	43735819		1900	4109	6009	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3475A>T	2.37:g.43735819T>A	ENSP00000385995:p.Arg1159Trp		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.R1159W	ENST00000405006.4	37	c.3475	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.88|19.88	3.909333|3.909333	0.72868|0.72868	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|D;D;D;D	.|0.82526	.|-1.62;-1.62;-1.62;-1.62	4.61|4.61	3.42|3.42	0.39159|0.39159	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91703|0.91703	0.7377|0.7377	M|M	0.91972|0.91972	3.26|3.26	0.50632|0.50632	D|D	0.999881|0.999881	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	D|D	0.91817|0.91817	0.5464|0.5464	5|10	.|0.87932	.|D	.|0	.|.	10.3598|10.3598	0.43987|0.43987	0.0:0.0:0.2084:0.7916|0.0:0.0:0.2084:0.7916	.|.	.|869;1160;869;1159	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	H|W	472|869;1159;1160;869;1159	.|ENSP00000331105:R869W;ENSP00000386088:R1159W;ENSP00000416048:R869W;ENSP00000385995:R1159W	.|ENSP00000331105:R869W	Q|R	-|-	3|1	2|2	THADA|THADA	43589323|43589323	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.682000|3.682000	0.54656|0.54656	0.835000|0.835000	0.34877|0.34877	0.533000|0.533000	0.62120|0.62120	CAA|AGG	THADA	-	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	ENSG00000115970		0.408	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	-	0	42	0	T	NM_022065		43735819	-1	tier1	-	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	43735819	T	A	43735819	3	1	82	1	0	0	0	0	1	0	0	0	15887	1608	56	5	2450	5	THADA	2	43735819	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	5519088	43735819	199463554	47	21618											
CNRIP1	25927	genome.wustl.edu	37	chr2	68544362	68544362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgtgtcatatgtacccGtataaacaactctgtcccca	10	13	5	13	1	3	0	1	0	2	0	4	0	4	0	3	0	3	2	3	0	6	5	rs377749015		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:68544362G>A	ENST00000263655.3	-	2	862	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CNRIP1_ENST00000409559.3_Missense_Mutation_p.T86M|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.T86M	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	86										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATATGTACCCGTATAAACAAC	0.493																																																	0								G	MET/THR,MET/THR	0,4406		0,0,2203	161	138	146		257,257	4.3	1	2		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CNRIP1	NM_001111101.1,NM_015463.2	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	86/129,86/165	68544362	1,13005	2203	4300	6503	SO:0001583	missense	0			AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 32"	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.257C>T	2.37:g.68544362G>A	ENSP00000263655:p.Thr86Met		B2R4D0|Q49AN4|Q9UFZ0	Missense_Mutation	SNP	NULL	p.T86M	ENST00000263655.3	37	c.257	CCDS1886.1	2	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725079	0.68959	0.0	1.16E-4	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	4.29	0.51040	.	0.233242	0.41823	D	0.000820	T	0.60637	0.2284	L	0.46157	1.445	0.38978	D	0.958883	D;D;P	0.59357	0.979;0.985;0.904	P;P;B	0.52823	0.502;0.71;0.226	T	0.66567	-0.5891	9	0.66056	D	0.02	-3.7973	12.1144	0.53858	0.0789:0.0:0.9211:0.0	.	86;86;86	B8ZZB8;Q96F85;Q96F85-2	.;CNRP1_HUMAN;.	M	86	.	ENSP00000263655:T86M	T	-	2	0	CNRIP1	68397866	0.789000	0.28775	0.996000	0.52242	0.996000	0.88848	1.037000	0.30241	1.418000	0.47098	0.555000	0.69702	ACG	CNRIP1	-	NULL	ENSG00000119865		0.493	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNRIP1	HGNC	protein_coding	OTTHUMT00000251758.1	-	0	64	0	G	NM_015463		68544362	-1	tier1	-	no_errors	ENST00000263655	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.888	A	A	68544362	G	A	68544362	3	1	82	1	0	0	0	0	1	0	0	0	3640	1145	40	1	306	1	CNRIP1	2	68544362	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	24808543	68544362	174655011	48	21619											
WDR54	84058	genome.wustl.edu	37	chr2	74649471	74649471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctccacgctaaggaggGtgctggagtgagtcccccac	8	6	13	14	1	0	1	0	1	0	0	2	3	2	3	4	3	2	3	4	3	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:74649471G>T	ENST00000348227.4	+	2	279	c.191G>T	c.(190-192)gGt>gTt	p.G64V	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	64										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GCTAAGGAGGGTGCTGGAGTG	0.592																																																	0													41	35	37					2																	74649471		2203	4300	6503	SO:0001583	missense	0			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.191G>T	2.37:g.74649471G>T	ENSP00000006526:p.Gly64Val		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G64V	ENST00000348227.4	37	c.191	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	G	12.70	2.015801	0.35606	.	.	ENSG00000005448	ENST00000426787;ENST00000348227	.	.	.	5.47	4.59	0.56863	.	0.259259	0.38381	N	0.001714	T	0.52805	0.1757	L	0.44542	1.39	0.58432	D	0.999995	B	0.17465	0.022	B	0.09377	0.004	T	0.46911	-0.9157	9	0.27082	T	0.32	-6.5572	13.3019	0.60330	0.0:0.1704:0.8296:0.0	.	64	Q9H977	WDR54_HUMAN	V	64	.	ENSP00000006526:G64V	G	+	2	0	WDR54	74502979	1.000000	0.71417	0.821000	0.32701	0.709000	0.40893	4.437000	0.59955	1.296000	0.44742	0.511000	0.50034	GGT	WDR54	-	NULL	ENSG00000005448		0.592	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	HGNC	protein_coding	OTTHUMT00000252213.1	-	0	40	0	G	NM_032118		74649471	1	tier1	-	no_errors	ENST00000348227	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.995	T	T	74649471	G	T	74649471	3	4	82	1	0	0	0	0	1	0	0	0	17355	1261	44	3	193	3	WDR54	2	74649471	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	6105109	74649471	168549902	49	21620											
THNSL2	55258	genome.wustl.edu	37	chr2	88478333	88478333	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgatgagctcgatgagccGatcaagactgtgtttgccga	10	9	13	9	4	1	3	1	2	0	1	2	7	1	3	2	0	4	2	2	0	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:88478333G>A	ENST00000324166.5	+	4	2294	c.603G>A	c.(601-603)ccG>ccA	p.P201P	THNSL2_ENST00000377254.3_Silent_p.P201P|THNSL2_ENST00000402102.1_Silent_p.P201P|THNSL2_ENST00000343544.4_Silent_p.P201P|THNSL2_ENST00000449349.1_Silent_p.P169P|THNSL2_ENST00000358591.2_Silent_p.P201P|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	201					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TCGATGAGCCGATCAAGACTG	0.562																																																	0													170	154	159					2																	88478333		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.603G>A	2.37:g.88478333G>A			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.P201	ENST00000324166.5	37	c.603	CCDS2002.2	2																																																																																			THNSL2	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000144115		0.562	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1		0	42	0	G	NM_018271		88478333	1			no_errors	ENST00000324166	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.987	A	A	88478333	G	A	88478333	2	1	82	1	0	0	0	0	0	0	0	1	15910	1045	37	1		1	THNSL2	2	88478333	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	13828862	88478333	154721040	50	21621											
MRPL30	51263	genome.wustl.edu	37	chr2	99811355	99811355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taataaagatgcttggattaGaaaaagtatgcaattatttt	17	15	7	2	0	0	2	0	0	0	2	0	3	0	3	0	1	2	3	0	1	9	8			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:99811355G>A	ENST00000338148.3	+	4	472	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	MRPL30_ENST00000409145.1_Missense_Mutation_p.E92K|MRPL30_ENST00000410042.1_Missense_Mutation_p.E92K|MRPL30_ENST00000465432.1_3'UTR|C2orf15_ENST00000512183.2_Missense_Mutation_p.E92K	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	92						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.E92Q(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GCTTGGATTAGAAAAAGTATG	0.269																																																	1	Substitution - Missense(1)	breast(1)											46	50	49					2																	99811355		2200	4296	6496	SO:0001583	missense	0			AB051342	CCDS2041.1	2q11.2	2012-09-13			ENSG00000185414	ENSG00000185414		"Mitochondrial ribosomal proteins / large subunits"	14036	protein-coding gene	gene with protein product		611838					Standard	NM_145212		Approved	MRP-L28, RPML28	uc002szv.3	Q8TCC3	OTTHUMG00000130642	ENST00000338148.3:c.274G>A	2.37:g.99811355G>A	ENSP00000338057:p.Glu92Lys		A6NIC6|D3DVI0|D3DVI3|Q0D2Q7|Q6ZTP4|Q96Q69|Q9P0N0	Missense_Mutation	SNP	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like	p.E122K	ENST00000338148.3	37	c.364	CCDS2041.1	2	.	.	.	.	.	.	.	.	.	.	G	6.786	0.513948	0.12944	.	.	ENSG00000241962;ENSG00000241962;ENSG00000185414;ENSG00000185414;ENSG00000185414;ENSG00000185414	ENST00000512183;ENST00000308644;ENST00000410042;ENST00000338148;ENST00000409145;ENST00000409841	T;T;T	0.43688	0.94;0.94;0.94	4.24	-3.07	0.05363	Ribosomal protein L30, ferredoxin-like fold domain (3);	0.865236	0.10212	N	0.702011	T	0.30262	0.0759	N	0.11313	0.125	0.09310	N	0.999998	B;B	0.29212	0.237;0.082	B;B	0.34590	0.186;0.053	T	0.09930	-1.0652	10	0.27082	T	0.32	-3.5943	22.1265	0.99967	0.0:0.8246:0.1754:0.0	.	92;92	Q8TCC3;Q8TCC3-3	RM30_HUMAN;.	K	92;105;92;92;92;92	ENSP00000420959:E92K;ENSP00000338057:E92K;ENSP00000386752:E92K	ENSP00000312464:E105K	E	+	1	0	C2orf15;MRPL30	99177787	0.999000	0.42202	0.673000	0.29887	0.230000	0.25150	0.751000	0.26348	-0.809000	0.04381	-0.951000	0.02657	GAA	C2orf15	-	pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like	ENSG00000241962		0.269	MRPL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf15	HGNC	protein_coding	OTTHUMT00000253130.2		0	60	0	G			99811355	1			no_errors	ENST00000424491	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.343	A	A	99811355	G	A	99811355	3	1	82	1	0	0	0	0	1	0	0	0	9832	943	33	3	284	3	MRPL30	2	99811355	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	11333022	99811355	143388018	51	21622											
PTPN4	5775	genome.wustl.edu	37	chr2	120714494	120714494	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatttccaaaaatagataCagagatatttcgccttgtaa	17	13	5	6	1	0	2	0	0	0	2	2	3	1	2	2	0	1	1	2	0	8	8			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:120714494C>G	ENST00000263708.2	+	21	2826	c.2055C>G	c.(2053-2055)taC>taG	p.Y685*	PTPN4_ENST00000544261.1_Nonsense_Mutation_p.Y318*	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	685	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AAAATAGATACAGAGATATTT	0.259																																																	0													68	77	74					2																	120714494		2203	4298	6501	SO:0001587	stop_gained	0				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2055C>G	2.37:g.120714494C>G	ENSP00000263708:p.Tyr685*		B2RBV8|Q9UDA7	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Y685*	ENST00000263708.2	37	c.2055	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365231	0.61513	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	.	.	.	5.28	4.4	0.53042	.	0.057968	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7414	0.62849	0.0:0.9255:0.0:0.0745	.	.	.	.	X	685;318	.	ENSP00000263708:Y685X	Y	+	3	2	PTPN4	120430964	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	4.909000	0.63314	1.208000	0.43306	0.655000	0.94253	TAC	PTPN4	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000088179		0.259	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	-	0	131	0	C			120714494	1	tier1	-	no_errors	ENST00000263708	ensembl	human	known	74_37	nonsense	5.00	95	5	SNP	1.000	G	G	120714494	C	G	120714494	4	3	82	1	0	0	0	0	0	1	0	0	12835	489	17	5	2133	5	PTPN4	2	120714494	Nonsense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	20903139	120714494	122484879	52	21623											
ORC4L	5000	genome.wustl.edu	37	chr2	148731063	148731063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttactatgtggactctgacGacaaaatctttcacgtaaaa	14	12	7	8	2	3	1	1	1	2	0	3	3	3	2	0	1	1	2	0	1	6	4	rs565023604	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:148731063G>T	ENST00000392857.5	-	3	195	c.88C>A	c.(88-90)Cgt>Agt	p.R30S	ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000264169.2_Missense_Mutation_p.R30S|ORC4_ENST00000536575.1_Intron|ORC4_ENST00000392858.1_Missense_Mutation_p.R30S|ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000535373.1_Missense_Mutation_p.R30S	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	30					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						GGACTCTGACGACAAAATCTT	0.313																																																	0													94	90	91					2																	148731063		2203	4300	6503	SO:0001583	missense	0			AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"ATPases / AAA-type"	8490	protein-coding gene	gene with protein product		603056	"origin recognition complex, subunit 4 (yeast homolog)-like", "origin recognition complex, subunit 4-like (yeast)", "origin recognition complex, subunit 4-like (S. cerevisiae)", "origin recognition complex, subunit 4 homolog (S. cerevisiae)"	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.88C>A	2.37:g.148731063G>T	ENSP00000376597:p.Arg30Ser		B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dom_prok,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_ORC4	p.R30S	ENST00000392857.5	37	c.88	CCDS2187.1	2	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201307	0.58234	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000392857;ENST00000416719;ENST00000457954;ENST00000440042	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.85	4.98	0.66077	.	0.239406	0.49305	D	0.000147	T	0.30448	0.0765	N	0.08118	0	0.80722	D	1	B;B;B	0.15930	0.015;0.009;0.009	B;B;B	0.11329	0.006;0.006;0.006	T	0.12016	-1.0564	10	0.09084	T	0.74	-8.2232	13.9162	0.63899	0.0741:0.0:0.9259:0.0	.	30;30;30	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	S	30	ENSP00000264169:R30S;ENSP00000441953:R30S;ENSP00000376598:R30S;ENSP00000376597:R30S;ENSP00000413939:R30S;ENSP00000391484:R30S;ENSP00000403105:R30S	ENSP00000264169:R30S	R	-	1	0	ORC4	148447533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.680000	0.61656	1.478000	0.48253	0.655000	0.94253	CGT	ORC4	-	superfamily_P-loop_NTPase,pirsf_ORC4	ENSG00000115947		0.313	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC4	HGNC	protein_coding	OTTHUMT00000254797.3		0	67	0	G	NM_181742		148731063	-1			no_errors	ENST00000264169	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	148731063	G	T	148731063	3	4	82	1	0	0	0	0	1	0	0	0	11303	1058	37	2	1270	2	ORC4L	2	148731063	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	28016569	148731063	94468310	53	21624											
NEB	4703	genome.wustl.edu	37	chr2	152521956	152521956	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatacttcttctcactaagaAtctctcctgctttctttgcc	7	17	4	13	0	4	1	1	0	4	1	7	2	5	1	2	0	3	1	2	0	3	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:152521956A>C	ENST00000172853.10	-	42	5276	c.5129T>G	c.(5128-5130)aTt>aGt	p.I1710S	NEB_ENST00000603639.1_Missense_Mutation_p.I1710S|NEB_ENST00000409198.1_Missense_Mutation_p.I1710S|NEB_ENST00000397345.3_Missense_Mutation_p.I1710S|NEB_ENST00000604864.1_Missense_Mutation_p.I1710S|NEB_ENST00000427231.2_Missense_Mutation_p.I1710S			P20929	NEBU_HUMAN	nebulin	1710					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCACTAAGAATCTCTCCTGC	0.473																																																	0													209	205	207					2																	152521956		2011	4153	6164	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.5129T>G	2.37:g.152521956A>C	ENSP00000172853:p.Ile1710Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.I1710S	ENST00000172853.10	37	c.5129		2	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193765	0.78902	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10573	2.89;2.86;2.86;2.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.12656	-1.0539	10	0.72032	D	0.01	.	15.3771	0.74615	1.0:0.0:0.0:0.0	.	1710	P20929	NEBU_HUMAN	S	1710	ENSP00000386259:I1710S;ENSP00000380505:I1710S;ENSP00000416578:I1710S;ENSP00000172853:I1710S	ENSP00000172853:I1710S	I	-	2	0	NEB	152230202	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	5.999000	0.70665	2.367000	0.80283	0.528000	0.53228	ATT	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.473	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	81	0	A	NM_004543		152521956	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	42.11	44	32	SNP	1.000	C	C	152521956	A	C	152521956	3	2	82	1	0	0	0	0	1	0	0	0	10341	101	4	4	21121	4	NEB	2	152521956	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	3790893	152521956	90677417	54	21625											
TTN	7273	genome.wustl.edu	37	chr2	179475827	179475827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgggaacttcaaggtgtGcagagatgtgatcattcttc	9	14	11	7	0	4	2	2	1	2	1	5	4	4	3	0	2	2	1	0	2	2	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:179475827G>T	ENST00000591111.1	-	220	46330	c.46106C>A	c.(46105-46107)gCa>gAa	p.A15369E	TTN_ENST00000342175.6_Missense_Mutation_p.A8137E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14442E|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8070E|TTN_ENST00000460472.2_Missense_Mutation_p.A7945E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A17010E|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15369	Ig-like 97.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A7945V(1)|p.A14442V(1)|p.A8137V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAGGTGTGCAGAGATGTG	0.433																																																	3	Substitution - Missense(3)	large_intestine(3)											183	174	177					2																	179475827		1912	4134	6046	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.46106C>A	2.37:g.179475827G>T	ENSP00000465570:p.Ala15369Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A14442E	ENST00000591111.1	37	c.43325		2	.	.	.	.	.	.	.	.	.	.	G	7.776	0.708425	0.15239	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.65	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52661	0.1748	M	0.73962	2.25	0.28411	N	0.918188	P;P;P;P	0.38335	0.627;0.627;0.627;0.627	B;B;B;B	0.43623	0.172;0.172;0.172;0.425	T	0.55205	-0.8177	9	0.87932	D	0	.	15.517	0.75833	0.0695:0.0:0.9305:0.0	.	7945;8070;8137;15369	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	14442;7945;8137;8070;7945	ENSP00000343764:A14442E;ENSP00000434586:A7945E;ENSP00000340554:A8137E;ENSP00000352154:A8070E	ENSP00000340554:A8137E	A	-	2	0	TTN	179184072	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.069000	0.50026	2.824000	0.97209	0.655000	0.94253	GCA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	64	0	G	NM_133378		179475827	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.967	T	T	179475827	G	T	179475827	3	4	82	1	0	0	0	0	1	0	0	0	16784	1319	46	3	57036	3	TTN	2	179475827	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	26953871	179475827	63723546	55	21626											
NCKAP1	10787	genome.wustl.edu	37	chr2	183843562	183843562	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttaaaaggcttattacCttgttttacacttagggaag	12	17	7	5	0	0	0	0	0	0	0	0	1	0	1	1	2	2	2	1	2	8	9			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:183843562C>T	ENST00000361354.4	-	14	1795	c.1423G>A	c.(1423-1425)Gtt>Att	p.V475I	NCKAP1_ENST00000360982.2_Splice_Site_p.V481I	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	475					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGCTTATTACCTTGTTTTACA	0.279																																																	0													46	49	48					2																	183843562		2202	4293	6495	SO:0001630	splice_region_variant	0			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1423+1G>A	2.37:g.183843562C>T			O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.V481I	ENST00000361354.4	37	c.1441	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736722	0.89482	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.36520	1.25;1.25	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.43923	1.385	0.80722	D	1	B;B	0.32128	0.357;0.307	B;B	0.34301	0.179;0.112	T	0.06409	-1.0828	9	.	.	.	-15.8656	19.6286	0.95691	0.0:1.0:0.0:0.0	.	475;481	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	I	475;481	ENSP00000355348:V475I;ENSP00000354251:V481I	.	V	-	1	0	NCKAP1	183551807	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.721000	0.84768	2.692000	0.91855	0.650000	0.86243	GTT	NCKAP1	-	pfam_Nck-associated_protein-1	ENSG00000061676		0.279	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	-	0	58	0	C	NM_205842	Missense_Mutation	183843562	-1	tier1	-	no_errors	ENST00000360982	ensembl	human	known	74_37	missense	8.96	61	6	SNP	1.000	T	T	183843562	C	T	183843562	5	4	82	1	0	0	0	0	0	0	1	0	10260	695	24	3	2035	3	NCKAP1	2	183843562	Splice_Site	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	4367735	183843562	59355811	56	21627											
BZW1	9689	genome.wustl.edu	37	chr2	201684807	201684807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaacattcatttcatgAaagccttccagaaaatagtg	16	11	6	8	0	2	3	2	2	0	1	3	3	3	3	2	0	2	0	2	0	5	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:201684807A>G	ENST00000409600.1	+	10	1524	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E	BZW1_ENST00000452790.2_Missense_Mutation_p.K389E|BZW1_ENST00000409226.1_Missense_Mutation_p.K361E	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	357	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCATTTCATGAAAGCCTTCCA	0.328																																																	0													33	28	29					2																	201684807		1796	4062	5858	SO:0001583	missense	0			D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.1069A>G	2.37:g.201684807A>G	ENSP00000386474:p.Lys357Glu		B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.K357E	ENST00000409600.1	37	c.1069	CCDS56156.1	2	.	.	.	.	.	.	.	.	.	.	A	28.3	4.904490	0.92035	.	.	ENSG00000082153	ENST00000409600;ENST00000409226;ENST00000452790	D;D;D	0.82893	-1.66;-1.66;-1.66	5.76	5.76	0.90799	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.047982	0.85682	D	0.000000	D	0.93523	0.7933	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.978	D	0.94751	0.7927	10	0.56958	D	0.05	-5.959	16.3786	0.83431	1.0:0.0:0.0:0.0	.	389;357	B4DLZ8;Q7L1Q6	.;BZW1_HUMAN	E	357;361;389	ENSP00000386474:K357E;ENSP00000386837:K361E;ENSP00000394316:K389E	ENSP00000386837:K361E	K	+	1	0	BZW1	201393052	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.323000	0.78572	0.528000	0.53228	AAA	BZW1	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	ENSG00000082153		0.328	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BZW1	HGNC	protein_coding	OTTHUMT00000335975.1		0	39	0	A	NM_014670		201684807	1			no_errors	ENST00000409600	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	G	G	201684807	A	G	201684807	3	3	82	1	0	0	0	0	1	0	0	0	1582	247	9	4	905	4	BZW1	2	201684807	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	17841245	201684807	41514566	57	21628											
ABCA12	26154	genome.wustl.edu	37	chr2	215815790	215815790	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttacatgtgaagaattaAattttctgaagaaaagccta	16	12	6	7	0	1	4	0	2	1	2	1	4	1	4	2	0	2	0	2	0	9	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:215815790A>C	ENST00000272895.7	-	45	6884	c.6665T>G	c.(6664-6666)tTt>tGt	p.F2222C	ABCA12_ENST00000389661.4_Missense_Mutation_p.F1904C|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2222					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAAGAATTAAATTTTCTGAA	0.373																																					Ovarian(66;664 1488 5121 34295)												0													139	139	139					2																	215815790		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"ATP binding cassette transporters / subfamily A"	14637	protein-coding gene	gene with protein product		607800	"ichthyosis congenita II, lamellar ichthyosis B"	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6665T>G	2.37:g.215815790A>C	ENSP00000272895:p.Phe2222Cys		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F2222C	ENST00000272895.7	37	c.6665	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329043	0.41197	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88818	-2.43;-2.43	5.61	5.61	0.85477	.	0.218651	0.31246	N	0.008000	D	0.86969	0.6061	N	0.19112	0.55	0.80722	D	1	P;P	0.49358	0.898;0.923	B;P	0.53401	0.428;0.725	D	0.87037	0.2138	10	0.38643	T	0.18	.	14.8048	0.69945	1.0:0.0:0.0:0.0	.	2222;1904	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	C	2222;1904	ENSP00000272895:F2222C;ENSP00000374312:F1904C	ENSP00000272895:F2222C	F	-	2	0	ABCA12	215524035	0.992000	0.36948	0.796000	0.32109	0.979000	0.70002	2.331000	0.43894	2.133000	0.65898	0.454000	0.30748	TTT	ABCA12	-	NULL	ENSG00000144452		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0	50	0	A	NM_173076		215815790	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.994	C	C	215815790	A	C	215815790	3	2	82	1	0	0	0	0	1	0	0	0	30	14	1	4	1158	4	ABCA12	2	215815790	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	14130983	215815790	27383583	58	21629											
FN1	2335	genome.wustl.edu	37	chr2	216264040	216264040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtggtctcagtcacctcGgtgttgtaaggtggaataga	9	12	14	6	1	2	1	2	0	1	1	4	2	2	2	1	5	0	2	1	5	3	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:216264040G>A	ENST00000359671.1	-	21	3553	c.3288C>T	c.(3286-3288)acC>acT	p.T1096T	FN1_ENST00000356005.4_Silent_p.T1096T|FN1_ENST00000354785.4_Silent_p.T1096T|FN1_ENST00000323926.6_Silent_p.T1096T|FN1_ENST00000336916.4_Silent_p.T1096T|FN1_ENST00000432072.2_Silent_p.T1096T|FN1_ENST00000346544.3_Silent_p.T1096T|FN1_ENST00000357009.2_Silent_p.T1096T|FN1_ENST00000421182.1_Silent_p.T1096T|FN1_ENST00000345488.5_Silent_p.T1096T|FN1_ENST00000446046.1_Silent_p.T1096T|FN1_ENST00000443816.1_Silent_p.T1096T|FN1_ENST00000357867.4_Silent_p.T1096T			P02751	FINC_HUMAN	fibronectin 1	1096	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CAGTCACCTCGGTGTTGTAAG	0.443																																																	0													154	145	148					2																	216264040		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3288C>T	2.37:g.216264040G>A			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.T1096	ENST00000359671.1	37	c.3288		2																																																																																			FN1	-	pfam_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.443	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	39	0	G	NM_212476		216264040	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.074	A	A	216264040	G	A	216264040	2	1	82	1	0	0	0	0	0	0	0	1	5984	1103	39	1		1	FN1	2	216264040	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	448250	216264040	26935333	59	21630											
DOCK10	55619	genome.wustl.edu	37	chr2	225662608	225662608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctgtggctgactgatTgacttggaaaaagagcatgt	11	10	13	7	1	0	4	0	3	0	1	0	5	0	5	0	2	2	3	0	2	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:225662608T>C	ENST00000258390.7	-	42	4652	c.4585A>G	c.(4585-4587)Aat>Gat	p.N1529D	DOCK10_ENST00000409592.3_Missense_Mutation_p.N1523D	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1529					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTGACTGATTGACTTGGAAA	0.413																																																	0													160	155	157					2																	225662608		1931	4138	6069	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4585A>G	2.37:g.225662608T>C	ENSP00000258390:p.Asn1529Asp		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N1529D	ENST00000258390.7	37	c.4585	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346123	0.61073	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.63417	0.11;-0.04	5.95	5.95	0.96441	.	0.041989	0.85682	D	0.000000	T	0.67344	0.2883	M	0.69185	2.1	0.35063	D	0.761742	P;P;P;B	0.46395	0.568;0.877;0.774;0.35	B;B;P;B	0.45913	0.127;0.339;0.497;0.138	T	0.77638	-0.2513	10	0.49607	T	0.09	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	1529;383;1523;191	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	D	1523;1529;67	ENSP00000386694:N1523D;ENSP00000258390:N1529D	ENSP00000258390:N1529D	N	-	1	0	DOCK10	225370852	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.499000	0.81566	2.279000	0.76181	0.533000	0.62120	AAT	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.413	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0	68	0	T			225662608	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	C	C	225662608	T	C	225662608	3	2	82	1	0	0	0	0	1	0	0	0	4699	1812	63	4	2035	4	DOCK10	2	225662608	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	9398568	225662608	17536765	60	21631											
CHRNG	1146	genome.wustl.edu	37	chr2	233409225	233409225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccctctgcctgcctcGcagtgaactcctcttccagc	4	10	10	17	1	2	1	0	1	2	0	5	1	4	1	5	2	4	1	5	2	1	1	rs375087506		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:233409225G>A	ENST00000389494.3	+	10	1205	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	CHRNG_ENST00000389492.3_Missense_Mutation_p.R343H	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	395					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	TGCCTGCCTCGCAGTGAACTC	0.657																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	60	61	60		1184	4.3	1	2		60	0,8600		0,0,4300	no	missense	CHRNG	NM_005199.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	395/518	233409225	1,13005	2203	4300	6503	SO:0001583	missense	0			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1967	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, gamma (muscle)"	100730	"cholinergic receptor, nicotinic, gamma"	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1184G>A	2.37:g.233409225G>A	ENSP00000374145:p.Arg395His		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.R395H	ENST00000389494.3	37	c.1184	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288997	0.80914	2.27E-4	0.0	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.84873	-1.91;-1.91	5.21	4.29	0.51040	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.36972	U	0.002312	D	0.85873	0.5798	M	0.63428	1.95	0.45883	D	0.998735	B;P	0.43973	0.403;0.823	B;P	0.47376	0.126;0.545	D	0.86091	0.1550	10	0.72032	D	0.01	.	11.4937	0.50396	0.0943:0.0:0.9057:0.0	.	343;395	Q14DU4;P07510	.;ACHG_HUMAN	H	395;395;343	ENSP00000374145:R395H;ENSP00000374143:R343H	ENSP00000374143:R343H	R	+	2	0	CHRNG	233117469	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.982000	0.56909	1.081000	0.41110	0.462000	0.41574	CGC	CHRNG	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000196811		0.657	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	-	0	56	0	G	NM_005199		233409225	1	tier1	-	no_errors	ENST00000389494	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.985	A	A	233409225	G	A	233409225	3	1	82	1	0	0	0	0	1	0	0	0	3403	1087	38	1	1222	1	CHRNG	2	233409225	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7746617	233409225	9790148	61	21632											
D2HGDH	728294	genome.wustl.edu	37	chr2	242681948	242681948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgagatcatcctctccaCtgcccgcatgaaccgggtcc	8	8	9	16	3	2	3	1	2	1	1	5	4	4	3	5	1	2	1	5	1	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:242681948C>T	ENST00000321264.4	+	4	658	c.449C>T	c.(448-450)aCt>aTt	p.T150I	D2HGDH_ENST00000403782.1_Missense_Mutation_p.T16I|D2HGDH_ENST00000342518.6_Missense_Mutation_p.T150I|D2HGDH_ENST00000537090.1_Missense_Mutation_p.T150I	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	150	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ATCCTCTCCACTGCCCGCATG	0.642																																																	0													106	83	90					2																	242681948		2203	4296	6499	SO:0001583	missense	0			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.449C>T	2.37:g.242681948C>T	ENSP00000315351:p.Thr150Ile		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.T150I	ENST00000321264.4	37	c.449	CCDS33426.1	2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450015	0.84101	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92;-3.89	5.06	5.06	0.68205	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96987	0.9016	M	0.83852	2.665	0.80722	D	1	P	0.36587	0.559	P	0.48089	0.566	D	0.97280	0.9917	10	0.52906	T	0.07	.	18.4273	0.90613	0.0:1.0:0.0:0.0	.	150	Q8N465	D2HDH_HUMAN	I	150;150;16;150;34;20	ENSP00000442796:T150I;ENSP00000315351:T150I;ENSP00000384723:T16I;ENSP00000339536:T150I;ENSP00000412511:T34I;ENSP00000404596:T20I	ENSP00000315351:T150I	T	+	2	0	D2HGDH	242330621	1.000000	0.71417	0.994000	0.49952	0.609000	0.37215	7.164000	0.77533	2.362000	0.80069	0.555000	0.69702	ACT	D2HGDH	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	ENSG00000180902		0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	D2HGDH	HGNC	protein_coding	OTTHUMT00000322794.2		0	15	0	C	NM_152783		242681948	1			no_errors	ENST00000321264	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T	T	242681948	C	T	242681948	3	4	82	1	0	0	0	0	1	0	0	0	4222	565	20	3	459	3	D2HGDH	2	242681948	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	9272723	242681948	517425	62	21633											
C2orf85	285093	genome.wustl.edu	37	chr2	242815414	242815414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaccccgggatctacccGcagcaagtgtgacgccccga	9	5	11	16	4	1	2	0	2	1	0	1	4	1	3	5	1	3	2	5	1	3	1	rs542496668		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr2:242815414G>A	ENST00000343216.3	+	2	1735	c.1707G>A	c.(1705-1707)ccG>ccA	p.P569P		NM_173821.2	NP_776182.2																					GGATCTACCCGCAGCAAGTGT	0.657																																																	0													89	98	95					2																	242815414		1980	4052	6032	SO:0001819	synonymous_variant	0																														ENST00000343216.3:c.1707G>A	2.37:g.242815414G>A				Silent	SNP	NULL	p.P569	ENST00000343216.3	37	c.1707	CCDS42843.1	2																																																																																			CXXC11	-	NULL	ENSG00000188011		0.657	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1	-	0	97	0	G			242815414	1	tier1	-	no_errors	ENST00000343216	ensembl	human	known	74_37	silent	12.07	51	7	SNP	0.004	A	A	242815414	G	A	242815414	2	1	82	1	0	0	0	0	0	0	0	1	2207	1074	38	1		1	C2orf85	2	242815414	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	133466	242815414	383959	63	21634											
CHL1	10752	genome.wustl.edu	37	chr3	423958	423958	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgaccacaacagcaataTtagcggtaggaagacttggg	14	7	12	8	1	0	2	0	1	0	1	0	3	0	3	1	3	4	3	1	3	6	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:423958T>G	ENST00000256509.2	+	17	2615	c.1973T>G	c.(1972-1974)aTt>aGt	p.I658S	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.I642S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACAGCAATATTAGCGGTAGG	0.413																																																	0													68	73	71					3																	423958		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	1939	protein-coding gene	gene with protein product	"neural cell adhesion molecule", "close homolog of L1"	607416	"cell adhesion molecule with homology to L1CAM (close homologue of L1)", "cell adhesion molecule with homology to L1CAM (close homolog of L1)"			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1973T>G	3.37:g.423958T>G	ENSP00000256509:p.Ile658Ser		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I658S	ENST00000256509.2	37	c.1973	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709639	0.89018	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.62364	0.03;0.03	4.86	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.258640	0.36815	N	0.002383	D	0.82903	0.5138	H	0.94222	3.51	0.25067	N	0.99102	D;D;B	0.55385	0.971;0.971;0.044	P;P;B	0.62184	0.899;0.899;0.073	T	0.79252	-0.1880	10	0.72032	D	0.01	.	14.7359	0.69414	0.0:0.0:0.0:1.0	.	642;642;658	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	S	658;642	ENSP00000256509:I658S;ENSP00000380628:I642S	ENSP00000256509:I658S	I	+	2	0	CHL1	398958	0.928000	0.31464	0.020000	0.16555	0.921000	0.55340	3.929000	0.56514	1.950000	0.56595	0.482000	0.46254	ATT	CHL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134121		0.413	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0	65	0	T	NM_006614		423958	1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.147	G	G	423958	T	G	423958	3	3	82	1	0	0	0	0	1	0	0	0	3356	1493	52	4	2031	4	CHL1	3	423958	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09		423958	197598472	64	21635											
SRGAP3	9901	genome.wustl.edu	37	chr3	9100157	9100157	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcccaaatcacagcaCttggggagaggcaacaacgg	14	4	13	10	1	1	1	1	0	0	1	1	3	1	2	1	5	4	2	1	5	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:9100157C>T	ENST00000383836.3	-	7	1229		c.e7-1		SRGAP3_ENST00000360413.3_Splice_Site|SRGAP3_ENST00000433332.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AATCACAGCACTTGGGGAGAG	0.577			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0													68	64	65					3																	9100157		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"Rho GTPase activating proteins"	19744	protein-coding gene	gene with protein product		606525	"SLIT-ROBO Rho GTPase activating protein 2"	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.802-1G>A	3.37:g.9100157C>T			Q8IX13|Q8IZV8	Splice_Site	SNP	-	e7-1	ENST00000383836.3	37	c.802-1	CCDS2572.1	3	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424679	0.83667	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1098	0.93312	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRGAP3	9075157	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	7.663000	0.83820	2.596000	0.87737	0.650000	0.86243	.	SRGAP3	-	-	ENSG00000196220		0.577	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGAP3	HGNC	protein_coding	OTTHUMT00000207137.3	-	0	46	0	C		Intron	9100157	-1	tier1	-	no_errors	ENST00000383836	ensembl	human	known	74_37	splice_site	25.00	27	9	SNP	1.000	T	T	9100157	C	T	9100157	5	4	82	1	0	0	0	0	0	0	1	0	15194	579	20	3	2597	3	SRGAP3	3	9100157	Splice_Site	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	8676199	9100157	188922273	65	21636											
THUMPD3	25917	genome.wustl.edu	37	chr3	9426296	9426296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgcagtttacgttctgaTacgtacacctcaagcttttg	8	15	8	10	2	2	1	1	1	1	0	2	1	2	1	1	0	6	6	1	0	4	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:9426296T>C	ENST00000345094.3	+	10	1782	c.1448T>C	c.(1447-1449)aTa>aCa	p.I483T	SETD5-AS1_ENST00000519043.1_RNA|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000452837.2_Missense_Mutation_p.I483T|SETD5-AS1_ENST00000468186.1_RNA|SETD5-AS1_ENST00000521609.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.I483T	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	483						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TACGTTCTGATACGTACACCT	0.448																																																	0													395	323	347					3																	9426296		2203	4300	6503	SO:0001583	missense	0			AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1448T>C	3.37:g.9426296T>C	ENSP00000339532:p.Ile483Thr		Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP	p.I483T	ENST00000345094.3	37	c.1448	CCDS2573.1	3	.	.	.	.	.	.	.	.	.	.	T	7.723	0.697521	0.15106	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	T;T;T	0.39997	1.05;1.05;1.05	5.67	1.9	0.25705	.	0.268722	0.47455	D	0.000238	T	0.19167	0.0460	N	0.08118	0	0.25032	N	0.991264	B	0.09022	0.002	B	0.10450	0.005	T	0.12863	-1.0531	10	0.37606	T	0.19	-24.3766	5.2769	0.15655	0.7117:0.0:0.1536:0.1347	.	483	Q9BV44	THUM3_HUMAN	T	483	ENSP00000395893:I483T;ENSP00000339532:I483T;ENSP00000424064:I483T	ENSP00000339532:I483T	I	+	2	0	THUMPD3	9401296	0.999000	0.42202	0.864000	0.33941	0.025000	0.11179	1.060000	0.30530	0.087000	0.17167	-0.406000	0.06334	ATA	THUMPD3	-	NULL	ENSG00000134077		0.448	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THUMPD3	HGNC	protein_coding	OTTHUMT00000214127.1	-	0	23	0	T	NM_015453		9426296	1	tier1	-	no_errors	ENST00000345094	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	C	C	9426296	T	C	9426296	3	2	82	1	0	0	0	0	1	0	0	0	15931	1406	49	4	1482	4	THUMPD3	3	9426296	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	326139	9426296	188596134	66	21637											
IL17RC	84818	genome.wustl.edu	37	chr3	9975157	9975157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcggctccaagagagagcGgagcaagtgtcccgggccct	8	4	17	12	3	0	2	0	0	0	2	2	4	2	3	3	4	2	2	3	4	2	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:9975157G>A	ENST00000295981.3	+	19	2474	c.2256G>A	c.(2254-2256)gcG>gcA	p.A752A	CRELD1_ENST00000383811.3_5'Flank|CRELD1_ENST00000397170.3_5'Flank|CRELD1_ENST00000326434.5_5'Flank|IL17RC_ENST00000455057.1_Silent_p.A649A|IL17RC_ENST00000498214.1_3'UTR|RP11-1020A11.1_ENST00000602411.1_RNA|CRELD1_ENST00000452070.1_5'Flank|IL17RC_ENST00000403601.3_Silent_p.A681A|IL17RC_ENST00000383812.4_Silent_p.A666A|IL17RC_ENST00000413608.1_Silent_p.A668A|IL17RC_ENST00000416074.2_Silent_p.A507A	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	752					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AAGAGAGAGCGGAGCAAGTGT	0.721																																																	0													12	16	15					3																	9975157		2167	4265	6432	SO:0001819	synonymous_variant	0			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"Interleukins and interleukin receptors"	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.2256G>A	3.37:g.9975157G>A			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	pfam_SEFIR	p.A752	ENST00000295981.3	37	c.2256	CCDS2590.1	3																																																																																			IL17RC	-	NULL	ENSG00000163702		0.721	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	-	0	20	0	G	NM_032732		9975157	1	tier1	-	no_errors	ENST00000295981	ensembl	human	known	74_37	silent	33.33	8	4	SNP	0.000	A	A	9975157	G	A	9975157	2	1	82	1	0	0	0	0	0	0	0	1	7668	1103	39	1		1	IL17RC	3	9975157	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	548861	9975157	188047273	67	21638											
KCNH8	131096	genome.wustl.edu	37	chr3	19295323	19295323	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgatgcttcaaatagaaaAgtcactggaggagaaaacag	18	7	10	6	0	2	3	2	1	0	2	2	5	2	4	0	2	2	1	0	2	6	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:19295323A>C	ENST00000328405.2	+	2	520	c.254A>C	c.(253-255)aAg>aCg	p.K85T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	85	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAAATAGAAAAGTCACTGGAG	0.423																																					NSCLC(124;1625 1765 8018 24930 42026)												0													110	122	118					3																	19295323		2203	4300	6503	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.254A>C	3.37:g.19295323A>C	ENSP00000328813:p.Lys85Thr		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.K85T	ENST00000328405.2	37	c.254	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061746	0.55432	.	.	ENSG00000183960	ENST00000328405	D	0.99652	-6.3	5.48	4.32	0.51571	PAS fold-3 (1);PAS (1);	0.000000	0.32819	U	0.005603	D	0.98143	0.9387	L	0.33293	1	0.39817	D	0.972781	B;P	0.36837	0.026;0.571	B;B	0.42959	0.1;0.403	D	0.97079	0.9783	9	.	.	.	.	6.546	0.22406	0.7896:0.0:0.0731:0.1373	.	85;85	B7Z398;Q96L42	.;KCNH8_HUMAN	T	85	ENSP00000328813:K85T	.	K	+	2	0	KCNH8	19270327	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.854000	0.62918	0.905000	0.36596	-0.256000	0.11100	AAG	KCNH8	-	pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_PAS,tigrfam_PAS	ENSG00000183960		0.423	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	-	0	43	0	A	NM_144633		19295323	1	tier1	-	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	C	C	19295323	A	C	19295323	3	2	82	1	0	0	0	0	1	0	0	0	8065	72	3	4	260	4	KCNH8	3	19295323	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	9320166	19295323	178727107	68	21639											
DCLK3	85443	genome.wustl.edu	37	chr3	36779750	36779750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgcatctgataatttcaCccgaggtcttttcaatctcc	8	15	5	13	2	6	1	2	1	4	0	8	2	6	1	2	1	0	1	2	1	2	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:36779750C>T	ENST00000416516.2	-	2	891	c.401G>A	c.(400-402)gGt>gAt	p.G134D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	134						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G134V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GATAATTTCACCCGAGGTCTT	0.572																																																	1	Substitution - Missense(1)	lung(1)											142	142	142					3																	36779750		1885	4116	6001	SO:0001583	missense	0			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.401G>A	3.37:g.36779750C>T	ENSP00000394484:p.Gly134Asp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G134D	ENST00000416516.2	37	c.401	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045783	0.55110	.	.	ENSG00000163673	ENST00000416516	T	0.68181	-0.31	4.7	4.7	0.59300	.	0.000000	0.33419	N	0.004924	T	0.66117	0.2757	L	0.34521	1.04	0.27530	N	0.95112	D	0.60160	0.987	P	0.56612	0.802	T	0.61436	-0.7063	10	0.62326	D	0.03	.	9.869	0.41162	0.0:0.866:0.0:0.134	.	134	Q9C098	DCLK3_HUMAN	D	134	ENSP00000394484:G134D	ENSP00000394484:G134D	G	-	2	0	DCLK3	36754754	0.179000	0.23135	0.117000	0.21633	0.886000	0.51366	1.120000	0.31271	2.339000	0.79563	0.655000	0.94253	GGT	DCLK3	-	NULL	ENSG00000163673		0.572	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1		0	43	0	C	XM_047355		36779750	-1			no_errors	ENST00000416516	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.553	T	T	36779750	C	T	36779750	3	4	82	1	0	0	0	0	1	0	0	0	4302	507	18	3	1561	3	DCLK3	3	36779750	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	17484427	36779750	161242680	69	21640											
SCN11A	11280	genome.wustl.edu	37	chr3	38888876	38888876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttacatgattcttttgatCgcagcatggggctgagcagg	9	12	13	7	1	1	3	0	3	1	0	2	3	1	3	0	3	3	5	0	3	1	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:38888876C>T	ENST00000302328.3	-	26	4883	c.4685G>A	c.(4684-4686)cGa>cAa	p.R1562Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1524Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1562Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1562					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1562Q(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTTTTGATCGCAGCATGGG	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											98	96	97					3																	38888876		2203	4300	6503	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4685G>A	3.37:g.38888876C>T	ENSP00000307599:p.Arg1562Gln		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.R1562Q	ENST00000302328.3	37	c.4685	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	c	13.16	2.154906	0.38021	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97430	-4.38;-4.38;-4.38	5.3	-2.15	0.07102	Ion transport (1);	2.067950	0.02264	N	0.067819	D	0.92802	0.7711	N	0.21282	0.65	0.09310	N	1	B	0.16603	0.018	B	0.06405	0.002	D	0.85206	0.1018	10	0.62326	D	0.03	.	6.1028	0.20057	0.1412:0.4819:0.0:0.3769	.	1562	Q9UI33	SCNBA_HUMAN	Q	1562;1562;1524	ENSP00000307599:R1562Q;ENSP00000400945:R1562Q;ENSP00000416757:R1524Q	ENSP00000307599:R1562Q	R	-	2	0	SCN11A	38863880	0.000000	0.05858	0.000000	0.03702	0.805000	0.45488	-0.551000	0.06027	-0.245000	0.09625	0.441000	0.28932	CGA	SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4		0	40	0	C	NM_014139		38888876	-1			no_errors	ENST00000302328	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	T	T	38888876	C	T	38888876	3	4	82	1	0	0	0	0	1	0	0	0	13958	884	31	1	694	1	SCN11A	3	38888876	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2109126	38888876	159133554	70	21641											
GLYCTK	132158	genome.wustl.edu	37	chr3	52327061	52327061	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttcttctgctgcctccaGggtggggcacacctgctgca	5	10	11	15	0	2	0	0	0	2	0	3	0	3	0	4	3	4	4	4	3	0	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:52327061G>C	ENST00000436784.2	+	5	1551	c.1491G>C	c.(1489-1491)caG>caC	p.Q497H	MIR135A1_ENST00000385191.1_RNA|GLYCTK_ENST00000305690.8_Splice_Site|GLYCTK_ENST00000471180.1_Splice_Site|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Splice_Site|GLYCTK_ENST00000354773.4_3'UTR|GLYCTK_ENST00000461183.1_Splice_Site			Q8IVS8	GLCTK_HUMAN	glycerate kinase	497					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glycerate kinase activity (GO:0008887)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GCTGCCTCCAGGGTGGGGCAC	0.582																																																	0													95	89	91					3																	52327061		2203	4300	6503	SO:0001583	missense	0				CCDS2852.1, CCDS46841.1	3p21.1	2008-01-22			ENSG00000168237	ENSG00000168237	2.7.1.31		24247	protein-coding gene	gene with protein product		610516				16753811	Standard	NM_145262		Approved	HBEBP4, HBEBP2	uc003ddo.3	Q8IVS8	OTTHUMG00000158380	ENST00000436784.2:c.1491G>C	3.37:g.52327061G>C	ENSP00000389175:p.Gln497His		Q0P630|Q2EZ43|Q6Y2K6|Q7Z6G5|Q86YR8|Q8TED2|Q8WTY2	Splice_Site	SNP	-	e5-1	ENST00000436784.2	37	c.1016-1	CCDS2852.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.026|0.026	-1.366919|-1.366919	0.01225|0.01225	.|.	.|.	ENSG00000168237|ENSG00000168237	ENST00000461183;ENST00000473032;ENST00000305690;ENST00000471180|ENST00000436784;ENST00000411757	.|T	.|0.54479	.|0.57	5.46|5.46	0.311|0.311	0.15831|0.15831	.|MOFRL domain (2);	.|0.360368	.|0.30464	.|N	.|0.009576	.|T	.|0.32734	.|0.0839	L|L	0.38175|0.38175	1.15|1.15	0.09310|0.09310	N|N	0.999996|0.999996	.|B	.|0.13594	.|0.008	.|B	.|0.21151	.|0.033	.|T	.|0.11036	.|-1.0604	.|9	.|.	.|.	.|.	.|-2.7969	1.7985|1.7985	0.03066|0.03066	0.2471:0.2186:0.4132:0.121|0.2471:0.2186:0.4132:0.121	.|.	.|497	.|Q8IVS8	.|GLCTK_HUMAN	.|H	-1|497;431	.|ENSP00000389175:Q497H	.|.	.|Q	+|+	.|3	.|2	GLYCTK|GLYCTK	52302101|52302101	0.846000|0.846000	0.29590|0.29590	0.002000|0.002000	0.10522|0.10522	0.007000|0.007000	0.05969|0.05969	0.059000|0.059000	0.14322|0.14322	-0.244000|-0.244000	0.09639|0.09639	-0.175000|-0.175000	0.13238|0.13238	.|CAG	GLYCTK	-	-	ENSG00000168237		0.582	GLYCTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYCTK	HGNC	protein_coding	OTTHUMT00000350835.1	-	0	30	0	G	NM_145262		52327061	1	tier1	-	no_errors	ENST00000305690	ensembl	human	known	74_37	splice_site	13.64	19	3	SNP	0.041	C	C	52327061	G	C	52327061	3	2	82	1	0	0	0	0	1	0	0	0	6508	991	35	5	1505	5	GLYCTK	3	52327061	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	13438185	52327061	145695369	71	21642											
CACNA1D	776	genome.wustl.edu	37	chr3	53796067	53796067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacgtttgactccctcatcGtaatcggcagcattatagac	11	11	7	12	3	1	2	1	1	0	1	4	2	2	2	1	1	1	4	1	1	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:53796067G>A	ENST00000350061.5	+	30	4340	c.3829G>A	c.(3829-3831)Gta>Ata	p.V1277I	CACNA1D_ENST00000540742.1_Missense_Mutation_p.V184I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1277I|CACNA1D_ENST00000288139.4_Missense_Mutation_p.V1297I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1277					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCCTCATCGTAATCGGCAG	0.547																																																	0													173	137	149					3																	53796067		2203	4300	6503	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3829G>A	3.37:g.53796067G>A	ENSP00000288133:p.Val1277Ile		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.V1297I	ENST00000350061.5	37	c.3889	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.526206	0.96431	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000540742	D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12	5.59	5.59	0.84812	Ion transport (1);	0.072440	0.53938	D	0.000049	D	0.99239	0.9735	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.954;0.991;0.998;0.999	D	0.99593	1.0976	10	0.87932	D	0	.	19.96	0.97242	0.0:0.0:1.0:0.0	.	1277;184;1277;1297	B0FYA3;F5H313;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	I	1277;1297;1277;184	ENSP00000288133:V1277I;ENSP00000288139:V1297I;ENSP00000409174:V1277I;ENSP00000438229:V184I	ENSP00000288139:V1297I	V	+	1	0	CACNA1D	53771107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.779000	0.99018	2.793000	0.96121	0.561000	0.74099	GTA	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.547	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0	29	0	G	NM_000720		53796067	1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	A	A	53796067	G	A	53796067	3	1	82	1	0	0	0	0	1	0	0	0	2548	1145	40	1	4119	1	CACNA1D	3	53796067	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1469006	53796067	144226363	72	21643											
LRTM1	57408	genome.wustl.edu	37	chr3	54958682	54958682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccagagtttaagacCgagcaagtggcaattgcatt	12	9	10	10	1	0	2	0	0	0	2	1	3	1	2	3	1	3	4	3	1	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:54958682C>T	ENST00000273286.5	-	2	730	c.568G>A	c.(568-570)Ggt>Agt	p.G190S	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G114S|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	190	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGTTTAAGACCGAGCAAGTGG	0.478																																																	0													88	94	92					3																	54958682		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.568G>A	3.37:g.54958682C>T	ENSP00000273286:p.Gly190Ser		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G190S	ENST00000273286.5	37	c.568	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	C	11.73	1.727109	0.30593	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.89875	4.27;-2.58	5.96	2.02	0.26589	Cysteine-rich flanking region, C-terminal (1);	0.203510	0.52532	N	0.000065	T	0.73923	0.3649	N	0.19112	0.55	0.47778	D	0.999517	P	0.38827	0.649	B	0.26416	0.069	T	0.65421	-0.6172	10	0.17369	T	0.5	.	10.2141	0.43158	0.0:0.7357:0.0:0.2643	.	190	Q9HBL6	LRTM1_HUMAN	S	190;114	ENSP00000273286:G190S;ENSP00000419772:G114S	ENSP00000273286:G190S	G	-	1	0	LRTM1	54933722	0.972000	0.33761	0.135000	0.22099	0.528000	0.34623	2.387000	0.44389	0.074000	0.16767	-0.140000	0.14226	GGT	LRTM1	-	smart_Cys-rich_flank_reg_C	ENSG00000144771		0.478	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	44	0	C	NM_020678		54958682	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	50.00	12	12	SNP	0.943	T	T	54958682	C	T	54958682	3	4	82	1	0	0	0	0	1	0	0	0	9079	652	23	1	477	1	LRTM1	3	54958682	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1162615	54958682	143063748	73	21644											
EPHA6	285220	genome.wustl.edu	37	chr3	97185278	97185278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggactctccatttcaaGtgacaaaactgtactggctt	12	12	7	10	0	2	1	1	1	1	0	3	2	2	2	1	2	2	2	1	2	5	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:97185278G>C	ENST00000514100.1	+	4	264	c.22G>C	c.(22-24)Gtg>Ctg	p.V8L	EPHA6_ENST00000442602.2_Intron|EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Missense_Mutation_p.V8L	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						tccatttcaagtgacaaaact	0.418																																																	0													116	110	112					3																	97185278		1850	4100	5950	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.22G>C	3.37:g.97185278G>C	ENSP00000421711:p.Val8Leu		D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V8L	ENST00000514100.1	37	c.22		3	.	.	.	.	.	.	.	.	.	.	G	8.335	0.827433	0.16749	.	.	ENSG00000080224	ENST00000514100;ENST00000502694	D;T	0.81908	-1.55;-1.3	3.35	-0.949	0.10376	.	.	.	.	.	T	0.61022	0.2314	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46190	-0.9209	9	0.37606	T	0.19	.	2.9463	0.05847	0.375:0.0:0.4289:0.1961	.	8;8	Q9UF33-2;D6RAL5	.;.	L	8	ENSP00000421711:V8L;ENSP00000423950:V8L	ENSP00000423950:V8L	V	+	1	0	EPHA6	98667968	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.100000	0.10990	-0.222000	0.09958	-0.478000	0.04885	GTG	EPHA6	-	NULL	ENSG00000080224		0.418	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	-	0	40	0	G	NM_001080448		97185278	1	tier1	-	no_errors	ENST00000502694	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.000	C	C	97185278	G	C	97185278	3	2	82	1	0	0	0	0	1	0	0	0	5187	1029	36	5	1940	5	EPHA6	3	97185278	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	42226596	97185278	100837152	74	21645											
RSRC1	51319	genome.wustl.edu	37	chr3	158261202	158261202	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatccacccagtactGaaaaagaaatagatcctacc	15	9	6	11	0	0	4	0	2	0	2	2	4	2	4	4	0	3	2	4	0	6	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:158261202G>T	ENST00000295930.3	+	9	1000	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	RSRC1_ENST00000312179.6_Nonsense_Mutation_p.E222*|RSRC1_ENST00000464171.1_Nonsense_Mutation_p.E222*|RSRC1_ENST00000480820.1_Nonsense_Mutation_p.E280*|RP11-538P18.2_ENST00000475981.1_RNA|RSRC1_ENST00000475278.2_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	280					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ACCCAGTACTGAAAAAGAAAT	0.408																																																	0													143	131	135					3																	158261202		2203	4300	6503	SO:0001587	stop_gained	0			AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"splicing factor, arginine/serine-rich 21"	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.838G>T	3.37:g.158261202G>T	ENSP00000295930:p.Glu280*		A8K2R9|Q96QK2|Q9NZE5	Nonsense_Mutation	SNP	NULL	p.E280*	ENST00000295930.3	37	c.838	CCDS3181.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.851|8.851	0.944577|0.944577	0.18356|0.18356	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000295930;ENST00000464171;ENST00000312179|ENST00000482822	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.289633|.	0.29218|.	N|.	0.012795|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.07813|.	T|.	0.8|.	.|.	11.7865|11.7865	0.52045|0.52045	0.0815:0.0:0.9185:0.0|0.0815:0.0:0.9185:0.0	.|.	.|.	.|.	.|.	X|L	280;280;222;222|173	.|.	ENSP00000295930:E280X|.	E|X	+|+	1|2	0|2	RSRC1|RSRC1	159743896|159743896	1.000000|1.000000	0.71417|0.71417	0.524000|0.524000	0.27887|0.27887	0.124000|0.124000	0.20399|0.20399	5.308000|5.308000	0.65768|0.65768	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GAA|TGA	RSRC1	-	NULL	ENSG00000174891		0.408	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC1	HGNC	protein_coding	OTTHUMT00000352063.2	-	0	49	0	G	NM_016625		158261202	1	tier1	-	no_errors	ENST00000295930	ensembl	human	known	74_37	nonsense	11.76	30	4	SNP	0.944	T	T	158261202	G	T	158261202	4	4	82	1	0	0	0	0	0	1	0	0	13759	1291	45	3	868	3	RSRC1	3	158261202	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	61075924	158261202	39761228	75	21646											
PIK3CA	5290	genome.wustl.edu	37	chr3	178916924	178916924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaaaagtaattgaacCagtaggcaaccgtgaagaaa	17	10	8	6	1	0	3	0	2	0	1	0	3	0	3	2	1	2	3	2	1	8	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:178916924C>T	ENST00000263967.3	+	2	468	c.311C>T	c.(310-312)cCa>cTa	p.P104L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	104	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.P104L(1)|p.P104R(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTAATTGAACCAGTAGGCAAC	0.353		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	4	Substitution - Missense(2)|Complex - deletion inframe(2)	large_intestine(2)|NS(1)|breast(1)											92	88	89					3																	178916924		1819	4069	5888	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.311C>T	3.37:g.178916924C>T	ENSP00000263967:p.Pro104Leu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P104L	ENST00000263967.3	37	c.311	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255170	0.80135	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.73575	-0.76;-0.76	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.83843	0.5342	L	0.56769	1.78	0.80722	D	1	D	0.67145	0.996	D	0.67382	0.951	T	0.82456	-0.0448	9	.	.	.	-19.3096	19.4272	0.94746	0.0:1.0:0.0:0.0	.	104	P42336	PK3CA_HUMAN	L	104	ENSP00000263967:P104L;ENSP00000417479:P104L	.	P	+	2	0	PIK3CA	180399618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.584000	0.87258	0.555000	0.69702	CCA	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2		0	45	0	C			178916924	1			no_errors	ENST00000263967	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	178916924	C	T	178916924	3	4	82	1	0	0	0	0	1	0	0	0	11952	594	21	3	313	3	PIK3CA	3	178916924	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	20655722	178916924	19105506	76	21647											
PIGZ	80235	genome.wustl.edu	37	chr3	196675122	196675122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccacaatgcctccaaGaagccagctgcgccaccgtg	11	4	10	16	2	0	1	0	0	0	1	1	1	1	1	6	0	6	2	6	0	3	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr3:196675122G>T	ENST00000412723.1	-	3	792	c.646C>A	c.(646-648)Ctt>Att	p.L216I	PIGZ_ENST00000443835.1_3'UTR	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	216					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.L216F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATGCCTCCAAGAAGCCAGCTG	0.637																																																	1	Substitution - Missense(1)	lung(1)											59	68	65					3																	196675122		2203	4299	6502	SO:0001583	missense	0			BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"Dolichyl D-mannosyl phosphate dependent mannosyltransferases", "Phosphatidylinositol glycan anchor biosynthesis"	30596	protein-coding gene	gene with protein product	"GPI mannosyltransferase 4", "dol-P-Man dependent GPI mannosyltransferase"	611671	"phosphatidylinositol glycan, class Z"			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.646C>A	3.37:g.196675122G>T	ENSP00000413405:p.Leu216Ile		Q9H9G6	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.L216I	ENST00000412723.1	37	c.646	CCDS3324.1	3	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063888	0.36373	.	.	ENSG00000119227	ENST00000412723	T	0.64085	-0.08	5.13	4.19	0.49359	.	0.145674	0.31963	N	0.006798	T	0.54663	0.1872	M	0.66297	2.02	0.80722	D	1	B	0.33583	0.418	B	0.34873	0.191	T	0.49652	-0.8917	10	0.20519	T	0.43	-17.7197	7.1217	0.25448	0.0:0.2015:0.5176:0.2809	.	216	Q86VD9	PIGZ_HUMAN	I	216	ENSP00000413405:L216I	ENSP00000413405:L216I	L	-	1	0	PIGZ	198159519	0.973000	0.33851	1.000000	0.80357	0.941000	0.58515	0.527000	0.22987	2.567000	0.86603	0.549000	0.68633	CTT	PIGZ	-	pfam_GPI_mannosylTrfase	ENSG00000119227		0.637	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGZ	HGNC	protein_coding	OTTHUMT00000340486.2		0	65	0	G	NM_025163		196675122	-1			no_errors	ENST00000412723	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.989	T	T	196675122	G	T	196675122	3	4	82	1	0	0	0	0	1	0	0	0	11944	942	33	3	1097	3	PIGZ	3	196675122	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	17758198	196675122	1347308	77	21648											
CNGA1	1259	genome.wustl.edu	37	chr4	47939078	47939078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcacaatcagcaaaaatgCgtaccttttttaatgtgtct	12	15	5	9	1	3	0	2	0	1	0	3	0	3	0	1	0	3	2	1	0	5	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:47939078C>T	ENST00000514170.1	-	11	1752	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	CNGA1_ENST00000358519.4_Missense_Mutation_p.R478H|CNGA1_ENST00000420489.2_Missense_Mutation_p.R478H|CNGA1_ENST00000402813.3_Missense_Mutation_p.R547H|CNGA1_ENST00000544810.1_Missense_Mutation_p.R478H			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	478					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AGCAAAAATGCGTACCTTTTT	0.378																																																	0													177	167	170					4																	47939078		1919	4150	6069	SO:0001583	missense	0			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.1433G>A	4.37:g.47939078C>T	ENSP00000426862:p.Arg478His		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R547H	ENST00000514170.1	37	c.1640	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350139	0.41599	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.22	4.38	0.52667	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	M	0.86651	2.83	0.58432	D	0.999997	P;P	0.44260	0.83;0.83	B;B	0.26693	0.072;0.072	D	0.93962	0.7241	10	0.66056	D	0.02	.	13.6822	0.62493	0.0:0.9258:0.0:0.0742	.	478;478	Q4W5E3;P29973	.;CNGA1_HUMAN	H	547;478;478;478;478	ENSP00000384264:R547H;ENSP00000426862:R478H;ENSP00000443401:R478H;ENSP00000351320:R478H;ENSP00000389881:R478H	ENSP00000351320:R478H	R	-	2	0	CNGA1	47633835	1.000000	0.71417	0.776000	0.31678	0.291000	0.27294	7.487000	0.81328	1.203000	0.43233	-0.339000	0.08088	CGC	CNGA1	-	superfamily_cNMP-bd-like	ENSG00000198515		0.378	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	-	0	28	0	C	NM_000087		47939078	-1	tier1	-	no_errors	ENST00000402813	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.980	T	T	47939078	C	T	47939078	3	4	82	1	0	0	0	0	1	0	0	0	3603	768	27	1	643	1	CNGA1	4	47939078	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		47939078	143215198	78	21649											
KIT	3815	genome.wustl.edu	37	chr4	55594207	55594207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacagaacgggaagcccTcatgtctgaactcaaagtcc	12	9	9	11	1	3	3	2	2	1	1	4	4	4	4	2	1	3	0	2	1	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:55594207T>C	ENST00000288135.5	+	13	2007	c.1910T>C	c.(1909-1911)cTc>cCc	p.L637P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGGGAAGCCCTCATGTCTGAA	0.453		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													139	127	131					4																	55594207		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1910T>C	4.37:g.55594207T>C	ENSP00000288135:p.Leu637Pro		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L637P	ENST00000288135.5	37	c.1910	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174152	0.78452	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.85339	-1.97;-1.97	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000173	D	0.93400	0.7895	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94277	0.7516	10	0.87932	D	0	.	16.6093	0.84858	0.0:0.0:0.0:1.0	.	144;633;637	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	P	637;633	ENSP00000288135:L637P;ENSP00000390987:L633P	ENSP00000288135:L637P	L	+	2	0	KIT	55288964	1.000000	0.71417	0.983000	0.44433	0.651000	0.38670	7.963000	0.87922	2.324000	0.78689	0.533000	0.62120	CTC	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000157404		0.453	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	60	0	T			55594207	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	55594207	T	C	55594207	3	2	82	1	0	0	0	0	1	0	0	0	8356	1551	54	4	1960	4	KIT	4	55594207	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	7655129	55594207	135560069	79	21650											
PRDM8	56978	genome.wustl.edu	37	chr4	81123235	81123235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaccacgggggcggcggcGgcggtggcaaagaccagcag	9	1	20	11	5	0	1	0	0	0	1	0	2	0	2	2	8	1	2	2	8	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:81123235G>A	ENST00000504452.1	+	8	1458	c.619G>A	c.(619-621)Ggc>Agc	p.G207S	PRDM8_ENST00000339711.4_Missense_Mutation_p.G207S|PRDM8_ENST00000415738.2_Missense_Mutation_p.G207S			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gggcggcggcggcggtggcaa	0.652											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													25	32	30					4																	81123235		2005	4172	6177	SO:0001583	missense	0			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.619G>A	4.37:g.81123235G>A	ENSP00000423985:p.Gly207Ser	1203	A8K7X2|Q6IQ36	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G207S	ENST00000504452.1	37	c.619	CCDS43243.1	4	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462325	0.43736	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.64085	-0.08;0.49;-0.08;-0.08	4.08	3.22	0.36961	.	0.000000	0.38897	N	0.001530	T	0.61299	0.2336	L	0.27053	0.805	0.24873	N	0.992276	D	0.89917	1.0	D	0.66497	0.944	T	0.51718	-0.8670	10	0.22706	T	0.39	.	9.5671	0.39405	0.0:0.2144:0.7856:0.0	.	207	Q9NQV8	PRDM8_HUMAN	S	207	ENSP00000423985:G207S;ENSP00000425149:G207S;ENSP00000339764:G207S;ENSP00000406998:G207S	ENSP00000339764:G207S	G	+	1	0	PRDM8	81342259	0.969000	0.33509	0.913000	0.36048	0.142000	0.21351	1.605000	0.36815	0.894000	0.36317	0.313000	0.20887	GGC	PRDM8	-	NULL	ENSG00000152784		0.652	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	-	0	81	0	G			81123235	1	tier1	-	no_errors	ENST00000339711	ensembl	human	known	74_37	missense	34.62	34	18	SNP	0.876	A	A	81123235	G	A	81123235	3	1	82	1	0	0	0	0	1	0	0	0	12504	1116	39	1	629	1	PRDM8	4	81123235	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	25529028	81123235	110031041	80	21651											
ADH1A	124	genome.wustl.edu	37	chr4	100205628	100205628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagactttctctagaggCgaggctgcatcaattttggc	10	11	11	9	1	2	3	1	0	1	3	3	4	2	3	0	3	1	2	0	3	2	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:100205628C>T	ENST00000209668.2	-	5	608	c.495G>A	c.(493-495)tcG>tcA	p.S165S	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	165					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.S165S(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	TCTCTAGAGGCGAGGCTGCAT	0.478																																																	1	Substitution - coding silent(1)	large_intestine(1)											97	93	95					4																	100205628		2203	4300	6503	SO:0001819	synonymous_variant	0			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"Alcohol dehydrogenases"	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.495G>A	4.37:g.100205628C>T			A8K3E3|Q17R68	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.S165	ENST00000209668.2	37	c.495	CCDS3648.1	4																																																																																			ADH1A	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000187758		0.478	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1A	HGNC	protein_coding	OTTHUMT00000253669.1	-	0	82	0	C	NM_000667		100205628	-1	tier1	-	no_errors	ENST00000209668	ensembl	human	known	74_37	silent	71.19	17	42	SNP	0.952	T	T	100205628	C	T	100205628	2	4	82	1	0	0	0	0	0	0	0	1	307	755	27	1		1	ADH1A	4	100205628	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	19082393	100205628	90948648	81	21652											
MTTP	4547	genome.wustl.edu	37	chr4	100534196	100534196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagctcagacctgtcaccTttttcaacggatacagtgat	10	13	7	11	1	4	2	4	1	0	1	4	3	4	3	2	1	3	1	2	1	2	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:100534196T>C	ENST00000265517.5	+	15	2319	c.2116T>C	c.(2116-2118)Ttt>Ctt	p.F706L	MTTP_ENST00000511045.1_Missense_Mutation_p.F733L|MTTP_ENST00000457717.1_Missense_Mutation_p.F706L|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	706					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	ACCTGTCACCTTTTTCAACGG	0.478																																																	0													190	170	177					4																	100534196		2203	4300	6503	SO:0001583	missense	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2116T>C	4.37:g.100534196T>C	ENSP00000265517:p.Phe706Leu		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.F706L	ENST00000265517.5	37	c.2116	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046688	0.75846	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.68903	-0.36;-0.34;-0.34	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	L	0.57536	1.79	0.80722	D	1	P;P	0.49862	0.929;0.787	P;B	0.46172	0.506;0.218	T	0.67829	-0.5569	10	0.33940	T	0.23	-26.2677	15.5644	0.76277	0.0:0.0:0.0:1.0	.	733;706	E9PBP6;P55157	.;MTP_HUMAN	L	733;706;706	ENSP00000427679:F733L;ENSP00000400821:F706L;ENSP00000265517:F706L	ENSP00000265517:F706L	F	+	1	0	MTTP	100753219	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.596000	0.82721	2.085000	0.62840	0.477000	0.44152	TTT	MTTP	-	NULL	ENSG00000138823		0.478	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	-	0	68	0	T			100534196	1	tier1	-	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.999	C	C	100534196	T	C	100534196	3	2	82	1	0	0	0	0	1	0	0	0	10002	1609	56	4	2174	4	MTTP	4	100534196	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	328568	100534196	90620080	82	21653											
ALPK1	80216	genome.wustl.edu	37	chr4	113345108	113345108	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcttttcaggaaaacttTtaaaagcagagtatattctg	13	14	8	6	0	2	1	1	0	1	1	2	2	2	2	0	1	3	4	0	1	6	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:113345108T>C	ENST00000458497.1	+	6	763	c.484T>C	c.(484-486)Tta>Cta	p.L162L	ALPK1_ENST00000504176.2_Silent_p.L84L|ALPK1_ENST00000177648.9_Silent_p.L162L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	162							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGAAAACTTTTAAAAGCAGA	0.378																																																	0													104	98	100					4																	113345108		2203	4300	6503	SO:0001819	synonymous_variant	0			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"lymphocyte alpha-kinase"	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.484T>C	4.37:g.113345108T>C			B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	NULL	p.F110S	ENST00000458497.1	37	c.329	CCDS3697.1	4																																																																																			ALPK1	-	NULL	ENSG00000073331		0.378	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2		0	88	0	T	NM_025144		113345108	1			no_errors	ENST00000509722	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.096	C	C	113345108	T	C	113345108	2	2	82	1	0	0	0	0	0	0	0	1	544	1838	64	4		4	ALPK1	4	113345108	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	12810912	113345108	77809168	83	21654											
ANK2	287	genome.wustl.edu	37	chr4	114275201	114275201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccacatccagctgcGtcaccctctctgaagtcaga	10	7	8	16	1	3	2	2	1	1	1	5	2	4	2	3	1	2	1	3	1	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:114275201G>A	ENST00000357077.4	+	38	5480	c.5427G>A	c.(5425-5427)gcG>gcA	p.A1809A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.A1776A|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1809	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCCAGCTGCGTCACCCTCTC	0.522																																																	0													97	107	104					4																	114275201		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5427G>A	4.37:g.114275201G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.A1809	ENST00000357077.4	37	c.5427	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.522	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	45	0	G	NM_001148		114275201	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.000	A	A	114275201	G	A	114275201	2	1	82	1	0	0	0	0	0	0	0	1	621	1132	40	1		1	ANK2	4	114275201	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	930093	114275201	76879075	84	21655											
ARSJ	79642	genome.wustl.edu	37	chr4	114823494	114823494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctgctgtttcttcttcTtttttttgcttttcttttgc	0	28	4	9	0	5	0	0	0	5	0	5	0	5	0	0	0	3	3	0	0	0	12			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:114823494T>A	ENST00000315366.7	-	2	2602	c.1736A>T	c.(1735-1737)aAg>aTg	p.K579M	ARSJ_ENST00000541197.1_Missense_Mutation_p.K579M	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	579					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.K579fs*>21(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		tttcttcttcttttttttgct	0.388																																																	1	Deletion - Frameshift(1)	large_intestine(1)											66	60	61					4																	114823494		1854	4092	5946	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1736A>T	4.37:g.114823494T>A	ENSP00000320219:p.Lys579Met		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.K579M	ENST00000315366.7	37	c.1736	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	T	10.59	1.394111	0.25205	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.97480	-4.4;-4.38	5.3	2.88	0.33553	.	0.522470	0.16284	U	0.221191	D	0.92721	0.7686	L	0.34521	1.04	0.23150	N	0.998214	B;P	0.39624	0.412;0.681	B;B	0.37833	0.259;0.259	D	0.86492	0.1798	10	0.51188	T	0.08	.	5.5412	0.17039	0.0:0.1604:0.1633:0.6763	.	579;579	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	M	579;579;148	ENSP00000320219:K579M;ENSP00000438836:K579M	ENSP00000320219:K579M	K	-	2	0	ARSJ	115042943	0.889000	0.30405	0.175000	0.22980	0.903000	0.53119	1.327000	0.33746	0.332000	0.23536	0.529000	0.55759	AAG	ARSJ	-	NULL	ENSG00000180801		0.388	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1		0	35	0	T	NM_024590		114823494	-1			no_errors	ENST00000315366	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.628	A	A	114823494	T	A	114823494	3	1	82	1	0	0	0	0	1	0	0	0	996	1609	56	5	67	5	ARSJ	4	114823494	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	548293	114823494	76330782	85	21656											
TLL1	7092	genome.wustl.edu	37	chr4	166929126	166929126	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttctgaagatggagccTggagaagtaaactcacttgg	13	11	11	6	0	2	3	1	1	1	2	2	5	2	4	1	3	2	1	1	3	5	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:166929126T>G	ENST00000061240.2	+	7	1490	c.843T>G	c.(841-843)ccT>ccG	p.P281P	TLL1_ENST00000513213.1_Silent_p.P281P|TLL1_ENST00000507499.1_Silent_p.P281P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	281	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGATGGAGCCTGGAGAAGTAA	0.408																																																	0													117	113	115					4																	166929126		2203	4300	6503	SO:0001819	synonymous_variant	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.843T>G	4.37:g.166929126T>G			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.P281	ENST00000061240.2	37	c.843	CCDS3811.1	4																																																																																			TLL1	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like	ENSG00000038295		0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	54	0	T			166929126	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.996	G	G	166929126	T	G	166929126	2	3	82	1	0	0	0	0	0	0	0	1	15992	1567	55	4		4	TLL1	4	166929126	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	52105632	166929126	24225150	86	21657											
ZFP42	132625	genome.wustl.edu	37	chr4	188924482	188924482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcgcagaatttgctagaaAgaagccccccataaataaag	16	7	8	10	1	0	3	0	0	0	3	1	3	0	3	3	0	2	3	3	0	8	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr4:188924482A>T	ENST00000326866.4	+	4	929	c.521A>T	c.(520-522)aAg>aTg	p.K174M	ZFP42_ENST00000509524.1_Missense_Mutation_p.K174M	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	174					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TTTGCTAGAAAGAAGCCCCCC	0.468																																																	0													97	110	106					4																	188924482		2203	4300	6503	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.521A>T	4.37:g.188924482A>T	ENSP00000317686:p.Lys174Met		D3DP65|Q8WXE2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K174M	ENST00000326866.4	37	c.521	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	A	7.168	0.587067	0.13812	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.63744	-0.06;-0.06	4.27	0.326	0.15908	.	0.051145	0.85682	U	0.000000	T	0.36276	0.0961	N	0.21194	0.64	0.20196	N	0.999921	B	0.34103	0.437	B	0.23716	0.048	T	0.14282	-1.0478	10	0.36615	T	0.2	.	5.3096	0.15823	0.4679:0.3591:0.0:0.173	.	174	Q96MM3	ZFP42_HUMAN	M	174	ENSP00000317686:K174M;ENSP00000424662:K174M	ENSP00000317686:K174M	K	+	2	0	ZFP42	189161476	0.000000	0.05858	0.124000	0.21820	0.126000	0.20510	-0.423000	0.07034	0.070000	0.16634	0.533000	0.62120	AAG	ZFP42	-	NULL	ENSG00000179059		0.468	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0	27	0	A	NM_174900		188924482	1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	71.43	6	15	SNP	0.599	T	T	188924482	A	T	188924482	3	4	82	1	0	0	0	0	1	0	0	0	17698	72	3	5	523	5	ZFP42	4	188924482	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	21995356	188924482	2229794	87	21658											
SLC6A19	340024	genome.wustl.edu	37	chr5	1219077	1219077	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccatcaccaagatgccGttgtccccactgtggtctgt	7	10	11	13	1	2	1	1	0	1	1	3	2	3	1	5	2	1	1	5	2	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:1219077G>A	ENST00000304460.10	+	9	1289	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	411					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAAGATGCCGTTGTCCCCAC	0.602																																																	0													399	296	331					5																	1219077		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1233G>A	5.37:g.1219077G>A			A8K446	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.P411	ENST00000304460.10	37	c.1233	CCDS34130.1	5																																																																																			SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000174358		0.602	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	-	0	36	0	G	XM_291120		1219077	1	tier1	-	no_errors	ENST00000304460	ensembl	human	known	74_37	silent	9.30	38	4	SNP	0.000	A	A	1219077	G	A	1219077	2	1	82	1	0	0	0	0	0	0	0	1	14727	1132	40	1		1	SLC6A19	5	1219077	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		1219077	179696183	88	21659											
DNAH5	1767	genome.wustl.edu	37	chr5	13845021	13845021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatagtgtgggagtccgaCgcctgccccagaatctctag	8	10	12	11	2	1	1	0	0	1	1	3	3	2	2	4	1	1	1	4	1	4	3	rs201484389		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:13845021C>T	ENST00000265104.4	-	32	5300	c.5196G>A	c.(5194-5196)gcG>gcA	p.A1732A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1732	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGAGTCCGACGCCTGCCCCA	0.468									Kartagener syndrome																																								0													110	110	110					5																	13845021		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5196G>A	5.37:g.13845021C>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A1732	ENST00000265104.4	37	c.5196	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom-2	ENSG00000039139		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	56	0	C	NM_001369		13845021	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	35.62	47	26	SNP	0.464	T	T	13845021	C	T	13845021	2	4	82	1	0	0	0	0	0	0	0	1	4618	523	19	1		1	DNAH5	5	13845021	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	12625944	13845021	167070239	89	21660											
C5orf34	375444	genome.wustl.edu	37	chr5	43490755	43490755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttggagaacagaagAtgacgaatgagtgggcatct	13	11	12	5	1	2	5	0	2	2	3	2	7	2	5	0	2	1	1	0	2	3	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:43490755A>G	ENST00000306862.2	-	11	2032	c.1657T>C	c.(1657-1659)Tct>Cct	p.S553P	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	553										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGAACAGAAGATGACGAATGA	0.328																																																	0													82	78	79					5																	43490755		2203	4300	6503	SO:0001583	missense	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1657T>C	5.37:g.43490755A>G	ENSP00000303490:p.Ser553Pro			Missense_Mutation	SNP	NULL	p.S553P	ENST00000306862.2	37	c.1657	CCDS3946.1	5	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276775	0.23307	.	.	ENSG00000172244	ENST00000306862	T	0.47869	0.83	5.17	-0.199	0.13220	.	0.762465	0.12396	N	0.472580	T	0.36880	0.0983	M	0.63428	1.95	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38023	-0.9680	10	0.48119	T	0.1	-0.2643	0.9524	0.01379	0.4318:0.1557:0.2621:0.1504	.	553	Q96MH7	CE034_HUMAN	P	553	ENSP00000303490:S553P	ENSP00000303490:S553P	S	-	1	0	C5orf34	43526512	0.018000	0.18449	0.001000	0.08648	0.055000	0.15305	0.241000	0.18065	-0.187000	0.10516	-0.256000	0.11100	TCT	C5orf34	-	NULL	ENSG00000172244		0.328	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	-	0	58	0	A	NM_198566		43490755	-1	tier1	-	no_errors	ENST00000306862	ensembl	human	known	74_37	missense	17.07	68	14	SNP	0.001	G	G	43490755	A	G	43490755	3	3	82	1	0	0	0	0	1	0	0	0	2300	333	12	4	271	4	C5orf34	5	43490755	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	29645734	43490755	137424505	90	21661											
F2R	2149	genome.wustl.edu	37	chr5	76028151	76028151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcagaatcaaaagcaaCaaatgccaccttagatcccc	15	10	4	12	0	2	2	2	0	0	2	3	2	3	2	4	0	3	1	4	0	6	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:76028151C>T	ENST00000319211.4	+	2	366	c.101C>T	c.(100-102)aCa>aTa	p.T34I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	34					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCAAAAGCAACAAATGCCACC	0.343																																																	0													50	52	51					5																	76028151		2137	4280	6417	SO:0001583	missense	0			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"GPCR / Class A : Protease activated receptors"	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.101C>T	5.37:g.76028151C>T	ENSP00000321326:p.Thr34Ile		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.T34I	ENST00000319211.4	37	c.101	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	C	9.615	1.132291	0.21041	.	.	ENSG00000181104	ENST00000319211	T	0.75050	-0.9	5.2	1.03	0.20045	.	3.336030	0.00775	N	0.001228	T	0.66655	0.2811	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47586	-0.9106	10	0.37606	T	0.19	0.7007	7.8818	0.29627	0.5546:0.253:0.1924:0.0	.	34	P25116	PAR1_HUMAN	I	34	ENSP00000321326:T34I	ENSP00000321326:T34I	T	+	2	0	F2R	76063907	0.000000	0.05858	0.007000	0.13788	0.032000	0.12392	0.393000	0.20817	0.090000	0.17273	-0.181000	0.13052	ACA	F2R	-	NULL	ENSG00000181104		0.343	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	-	0	48	0	C			76028151	1	tier1	-	no_errors	ENST00000319211	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.003	T	T	76028151	C	T	76028151	3	4	82	1	0	0	0	0	1	0	0	0	5359	478	17	3	107	3	F2R	5	76028151	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	32537396	76028151	104887109	91	21662											
VCAN	1462	genome.wustl.edu	37	chr5	82817499	82817499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggtaacactaacaccacGcattgggccaaaagtatctt	14	9	8	10	1	1	0	0	0	1	0	1	0	1	0	2	2	2	3	2	2	5	5	rs146606609	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:82817499G>T	ENST00000265077.3	+	7	3939	c.3374G>T	c.(3373-3375)cGc>cTc	p.R1125L	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.R1125L|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.R1077L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1125	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.R1125H(3)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CTAACACCACGCATTGGGCCA	0.398																																																	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)											68	62	64					5																	82817499		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3374G>T	5.37:g.82817499G>T	ENSP00000265077:p.Arg1125Leu		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.R1125L	ENST00000265077.3	37	c.3374	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	1.517	-0.547861	0.04024	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.85411	-1.87;-1.96;-1.98	5.81	-0.402	0.12404	.	0.982777	0.08328	N	0.962738	T	0.69922	0.3165	N	0.08118	0	0.09310	N	1	B;B	0.15473	0.005;0.013	B;B	0.17098	0.017;0.008	T	0.58696	-0.7591	10	0.72032	D	0.01	.	7.3139	0.26489	0.215:0.3072:0.4777:0.0	.	1125;1125	P13611-3;P13611	.;CSPG2_HUMAN	L	1125;1125;1077	ENSP00000265077:R1125L;ENSP00000342768:R1125L;ENSP00000425959:R1077L	ENSP00000265077:R1125L	R	+	2	0	VCAN	82853255	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.409000	0.07160	-0.095000	0.12351	-1.850000	0.00570	CGC	VCAN	-	NULL	ENSG00000038427		0.398	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0	45	0	G	NM_004385		82817499	1			no_errors	ENST00000265077	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.000	T	T	82817499	G	T	82817499	3	4	82	1	0	0	0	0	1	0	0	0	17187	1087	38	2	3396	2	VCAN	5	82817499	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	6789348	82817499	98097761	92	21663											
CCDC112	153733	genome.wustl.edu	37	chr5	114606915	114606915	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagatttactcactctttCttgaaatctggaaatttcat	13	17	4	7	0	5	2	2	1	3	1	5	3	5	3	0	1	1	0	0	1	5	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:114606915C>A	ENST00000512261.1	-	8	1494	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*	CCDC112_ENST00000506442.1_Nonsense_Mutation_p.E360*|CCDC112_ENST00000395557.4_Nonsense_Mutation_p.E360*|CCDC112_ENST00000379611.5_Nonsense_Mutation_p.E443*			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	360								p.E443K(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTCACTCTTTCTTGAAATCTG	0.313																																																	1	Substitution - Missense(1)	large_intestine(1)											64	69	67					5																	114606915		2201	4297	6498	SO:0001587	stop_gained	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1078G>T	5.37:g.114606915C>A	ENSP00000423712:p.Glu360*		Q6A334	Nonsense_Mutation	SNP	superfamily_Homeodomain-like	p.E443*	ENST00000512261.1	37	c.1327	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	C	42	9.174780	0.99089	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	.	.	.	6.17	5.31	0.75309	.	0.243252	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.3998	14.7193	0.69294	0.0:0.9298:0.0:0.0702	.	.	.	.	X	443;360;360;360	.	ENSP00000368931:E443X	E	-	1	0	CCDC112	114634814	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.457000	0.66672	1.626000	0.50381	0.655000	0.94253	GAA	CCDC112	-	NULL	ENSG00000164221		0.313	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	-	0	45	0	C	NM_152549		114606915	-1	tier1	-	no_errors	ENST00000379611	ensembl	human	known	74_37	nonsense	15.00	17	3	SNP	1.000	A	A	114606915	C	A	114606915	4	1	82	1	0	0	0	0	0	1	0	0	2756	922	32	3	278	3	CCDC112	5	114606915	Nonsense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	31789416	114606915	66308345	93	21664											
TRPC7	57113	genome.wustl.edu	37	chr5	135601939	135601939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcataatgagcatttctgtCcaggagaactgtgtggtttt	9	16	10	6	0	2	2	1	1	1	1	3	3	3	2	1	2	2	2	1	2	2	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:135601939C>A	ENST00000513104.1	-	5	1596	c.1314G>T	c.(1312-1314)tgG>tgT	p.W438C	TRPC7_ENST00000355180.3_Missense_Mutation_p.W377C|TRPC7_ENST00000426057.2_Missense_Mutation_p.W322C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	438					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCATTTCTGTCCAGGAGAACT	0.383																																																	0													229	217	221					5																	135601939		1875	4115	5990	SO:0001583	missense	0			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"Voltage-gated ion channels / Transient receptor potential cation channels"	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1314G>T	5.37:g.135601939C>A	ENSP00000426070:p.Trp438Cys		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.W438C	ENST00000513104.1	37	c.1314	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.067927|4.067927	0.76301|0.76301	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753|ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	.|T;T;T	.|0.79352	.|-1.13;-1.26;-1.21	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87103|0.87103	0.6094|0.6094	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.64830	.|0.994;0.964;0.972;0.972	.|P;P;P;P	.|0.61003	.|0.865;0.882;0.765;0.664	D|D	0.86229|0.86229	0.1636|0.1636	5|10	.|0.42905	.|T	.|0.14	-0.6983|-0.6983	19.3071|19.3071	0.94167|0.94167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|322;377;383;438	.|Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.|.;.;.;TRPC7_HUMAN	Y|C	322;377;383|377;322;438;438	.|ENSP00000347312:W377C;ENSP00000441628:W322C;ENSP00000426070:W438C	.|ENSP00000265193:W438C	D|W	-|-	1|3	0|0	TRPC7|TRPC7	135629838|135629838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.604000|7.604000	0.82830|0.82830	2.793000|2.793000	0.96121|0.96121	0.563000|0.563000	0.77884|0.77884	GAC|TGG	TRPC7	-	tigrfam_TRP_channel	ENSG00000069018		0.383	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	-	0	126	0	C	NM_020389		135601939	-1	tier1	-	no_errors	ENST00000513104	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	135601939	C	A	135601939	3	1	82	1	0	0	0	0	1	0	0	0	16632	856	30	3	1306	3	TRPC7	5	135601939	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	20995024	135601939	45313321	94	21665											
PCDHA12	56137	genome.wustl.edu	37	chr5	140255418	140255418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggttttccatgtggacGtggaggtgaaggacattaac	10	11	14	6	1	0	1	0	1	0	0	1	4	1	4	1	5	2	2	1	5	2	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:140255418G>A	ENST00000398631.2	+	1	361	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGTGGACGTGGAGGTGAA	0.562																																					Pancreas(113;759 1672 13322 24104 50104)												0													105	120	115					5																	140255418		2203	4300	6503	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.361G>A	5.37:g.140255418G>A	ENSP00000381628:p.Val121Met		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V121M	ENST00000398631.2	37	c.361	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086942	0.55861	.	.	ENSG00000251664	ENST00000398631	T	0.60548	0.18	5.28	5.28	0.74379	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.82793	0.5114	M	0.93241	3.395	0.38853	D	0.956318	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88218	0.2895	9	0.72032	D	0.01	.	18.502	0.90886	0.0:0.0:1.0:0.0	.	121;121	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	M	121	ENSP00000381628:V121M	ENSP00000381628:V121M	V	+	1	0	PCDHA12	140235602	0.994000	0.37717	1.000000	0.80357	0.380000	0.30137	2.136000	0.42121	2.468000	0.83385	0.591000	0.81541	GTG	PCDHA12	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.562	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	133	0	G	NM_018903		140255418	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	8.75	73	7	SNP	1.000	A	A	140255418	G	A	140255418	3	1	82	1	0	0	0	0	1	0	0	0	11561	1145	40	1	363	1	PCDHA12	5	140255418	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	4653479	140255418	40659842	95	21666											
LARS	51520	genome.wustl.edu	37	chr5	145508678	145508678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagcattcataattgagtCaggcttttaaaaaaagaaaa	19	11	7	4	0	2	3	2	2	0	1	2	3	2	3	0	1	1	2	0	1	8	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:145508678C>G	ENST00000394434.2	-	26	2798	c.2632G>C	c.(2632-2634)Gac>Cac	p.D878H	LARS_ENST00000274562.9_Missense_Mutation_p.D851H|LARS_ENST00000510191.1_Missense_Mutation_p.D824H|LARS_ENST00000545646.1_Missense_Mutation_p.D832H	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	878					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATAATTGAGTCAGGCTTTTAA	0.338																																																	0													69	74	73					5																	145508678		2203	4298	6501	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.2632G>C	5.37:g.145508678C>G	ENSP00000377954:p.Asp878His		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.D878H	ENST00000394434.2	37	c.2632	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	4.933	0.173286	0.09391	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.14640	2.49;2.49;2.49;2.49	5.73	3.0	0.34707	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.494236	0.26126	N	0.026199	T	0.19485	0.0468	L	0.45470	1.425	0.09310	N	0.999997	B;B;B	0.26876	0.162;0.0;0.0	B;B;B	0.43123	0.409;0.004;0.0	T	0.25222	-1.0138	10	0.72032	D	0.01	-22.2189	8.7792	0.34781	0.0:0.7316:0.1321:0.1363	.	851;832;878	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	H	878;832;187;824;851	ENSP00000377954:D878H;ENSP00000437791:D832H;ENSP00000426005:D824H;ENSP00000274562:D851H	ENSP00000274562:D851H	D	-	1	0	LARS	145488871	0.003000	0.15002	0.045000	0.18777	0.328000	0.28507	0.736000	0.26130	0.779000	0.33543	-0.137000	0.14449	GAC	LARS	-	pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.338	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1		0	109	0	C	NM_020117		145508678	-1			no_errors	ENST00000394434	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.041	G	G	145508678	C	G	145508678	3	3	82	1	0	0	0	0	1	0	0	0	8662	826	29	5	926	5	LARS	5	145508678	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	5253260	145508678	35406582	96	21667											
ADRB2	154	genome.wustl.edu	37	chr5	148206658	148206659	+	Frame_Shift_Ins	INS	-	-	T																															tgggcctggcagtggtgcccINStttggggccgcccatattct																								rs145233416		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:148206658_148206659insT	ENST00000305988.4	+	1	503_504	c.264_265insT	c.(265-267)tttfs	p.F89fs		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	89					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CAGTGGTGCCCTTTGGGGCCGC	0.53																																																	0																																										SO:0001589	frameshift_variant	0			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"GPCR / Class A : Adrenoceptors : beta"	286	protein-coding gene	gene with protein product		109690	"adrenergic, beta-2-, receptor, surface"	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.267dupT	5.37:g.148206661_148206661dupT	ENSP00000305372:p.Phe89fs		B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.G89fs	ENST00000305988.4	37	c.264_265	CCDS4292.1	5																																																																																			ADRB2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ADR_fam	ENSG00000169252		0.53	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1		0	41	0	-	NM_000024		148206659	1	tier1		no_errors	ENST00000305988	ensembl	human	known	74_37	frame_shift_ins	13.33	13	2	INS	0.996:1.000	T	T	148206659	-	T	148206658	7	5	82	1	0	1	1	0	0	0	0	0	341	668	24	0	266	0	ADRB2	5	148206658	Frame_Shift_Ins	INS	-	TCGA-L5-A8NH-01A-11D-A37C-09	2697980	148206658	32708602	97	21668											
WWC1	23286	genome.wustl.edu	37	chr5	167881030	167881032	+	In_Frame_Del	DEL	GGA	GGA	-																															gaggaagaggaggaggaggtGgaggaggaggagggagaaga																								rs111457550|rs28429769|rs28421695|rs376909223	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:167881030_167881032delGGA	ENST00000265293.4	+	18	3085_3087	c.2583_2585delGGA	c.(2581-2586)gtggag>gtg	p.E865del	WWC1_ENST00000521089.1_In_Frame_Del_p.E865del|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	865	Glu-rich.|Interaction with histone H3.			Missing (in Ref. 6; AAO73817). {ECO:0000305}.	cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		aggaggaggtggaggaggaggag	0.547																																																	0									,,	2323,1941		637,1049,446					,,	-0.6	0.1		dbSNP_132	92	1828,6426		217,1394,2516	no	coding,coding,coding	WWC1	NM_015238.2,NM_001161662.1,NM_001161661.1	,,	854,2443,2962	A1A1,A1R,RR		22.1468,45.5206,33.1602	,,	,,		4151,8367				SO:0001651	inframe_deletion	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2583_2585delGGA	5.37:g.167881039_167881041delGGA	ENSP00000265293:p.Glu865del		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	In_Frame_Del	DEL	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E865in_frame_del	ENST00000265293.4	37	c.2583_2585	CCDS4366.1	5																																																																																			WWC1	-	NULL	ENSG00000113645		0.547	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2		0	39	0	GGA	NM_015238		167881032	1	tier1		no_errors	ENST00000265293	ensembl	human	known	74_37	in_frame_del	10.81	33	4	DEL	0.823:0.847:0.815	-	-	167881032	GGA	-	167881030	7	5	82	1	0	1	0	1	0	0	0	0	17460	1335	47	0	2653	0	WWC1	5	167881030	In_Frame_Del	DEL	GGA	TCGA-L5-A8NH-01A-11D-A37C-09	19674372	167881030	13034230	98	21669											
GABRP	2568	genome.wustl.edu	37	chr5	170224476	170224476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttccctcttagaatcacGacaactgttgcatgtaacat	11	15	5	10	1	2	1	1	0	1	1	3	2	3	1	1	0	3	3	1	0	4	5	rs148144716	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:170224476G>A	ENST00000518525.1	+	7	929	c.465G>A	c.(463-465)acG>acA	p.T155T	GABRP_ENST00000519598.1_Silent_p.T155T|GABRP_ENST00000519385.1_Silent_p.T155T|GABRP_ENST00000265294.4_Silent_p.T155T			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	155					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTAGAATCACGACAACTGTTG	0.423													A|||	35	0.00698882	0.025	0	5008	,	,		22369	0		0.001	False		,,,				2504	0.001																0								A		87,4319	818.5+/-416.3	0,87,2116	148	135	139		465	-11	0	5	dbSNP_134	139	2,8598	819.2+/-406.8	0,2,4298	no	coding-synonymous	GABRP	NM_014211.2		0,89,6414	AA,AG,GG		0.0233,1.9746,0.6843		155/441	170224476	89,12917	2203	4300	6503	SO:0001819	synonymous_variant	0			U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4089	protein-coding gene	gene with protein product	"GABA(A) receptor, pi"	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.465G>A	5.37:g.170224476G>A			A8KA36|D3DQL2|Q32MJ1	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T155	ENST00000518525.1	37	c.465	CCDS4375.1	5																																																																																			GABRP	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000094755		0.423	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRP	HGNC	protein_coding	OTTHUMT00000252834.3		0	88	0	G	NM_014211		170224476	1			no_errors	ENST00000265294	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.001	A	A	170224476	G	A	170224476	2	1	82	1	0	0	0	0	0	0	0	1	6198	1045	37	1		1	GABRP	5	170224476	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2343446	170224476	10690784	99	21670											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178585827	178585827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctggaggtaggcccagcgGcagacattctccaggctctg	7	8	14	12	1	2	1	0	0	2	1	3	2	2	2	2	5	2	4	2	5	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr5:178585827G>A	ENST00000251582.7	-	6	1130	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	ADAMTS2_ENST00000274609.5_Silent_p.C343C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	343	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGCCCAGCGGCAGACATTCT	0.602																																																	0													102	91	95					5																	178585827		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1029C>T	5.37:g.178585827G>A				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.C343	ENST00000251582.7	37	c.1029	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000087116		0.602	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	38	0	G	NM_014244		178585827	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	18.18	18	4	SNP	1.000	A	A	178585827	G	A	178585827	2	1	82	1	0	0	0	0	0	0	0	1	265	1195	42	3		3	ADAMTS2	5	178585827	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	8361351	178585827	2329433	100	21671											
KIAA0319	9856	genome.wustl.edu	37	chr6	24570135	24570135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagacagactacctgaCgtgctcccagtggtagaaga	11	7	13	10	2	0	5	0	1	0	4	1	6	1	5	2	2	2	2	2	2	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:24570135C>T	ENST00000378214.3	-	12	2511	c.1987G>A	c.(1987-1989)Gtc>Atc	p.V663I	KIAA0319_ENST00000535378.1_Missense_Mutation_p.V654I|KIAA0319_ENST00000430948.2_Missense_Mutation_p.V618I|KIAA0319_ENST00000543707.1_Missense_Mutation_p.V663I|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V663I	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	663	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GACTACCTGACGTGCTCCCAG	0.522																																																	0													112	100	104					6																	24570135		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1987G>A	6.37:g.24570135C>T	ENSP00000367459:p.Val663Ile		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.V663I	ENST00000378214.3	37	c.1987	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.723353	0.00700	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	3.97	-2.58	0.06228	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (1);	0.683951	0.12519	N	0.461844	T	0.01421	0.0046	N	0.05230	-0.09	0.09310	N	0.999999	B;B;B	0.16802	0.005;0.015;0.019	B;B;B	0.12156	0.006;0.004;0.007	T	0.46148	-0.9212	10	0.10111	T	0.7	.	11.6597	0.51339	0.0:0.1608:0.0:0.8392	.	663;654;663	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	I	663;654;618;663;663	ENSP00000439700:V663I;ENSP00000442403:V654I;ENSP00000401086:V618I;ENSP00000367459:V663I;ENSP00000437656:V663I	ENSP00000367459:V663I	V	-	1	0	KIAA0319	24678114	0.001000	0.12720	0.021000	0.16686	0.229000	0.25112	-0.256000	0.08757	-0.598000	0.05806	-0.951000	0.02657	GTC	KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.522	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0	57	0	C	NM_014809		24570135	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	36.96	29	17	SNP	0.143	T	T	24570135	C	T	24570135	3	4	82	1	0	0	0	0	1	0	0	0	8195	536	19	1	1271	1	KIAA0319	6	24570135	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		24570135	146544932	101	21672											
FAM65B	9750	genome.wustl.edu	37	chr6	24843687	24843687	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgagtgggaggtgagggcGcagtccccgttgggcaggtc	5	8	20	8	2	0	2	0	2	0	0	2	3	1	3	2	5	0	4	2	5	0	2	rs375535589		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:24843687G>T	ENST00000259698.4	-	14	1498	c.1323C>A	c.(1321-1323)tgC>tgA	p.C441*	FAM65B_ENST00000538035.1_Nonsense_Mutation_p.C420*|FAM65B_ENST00000510784.2_Nonsense_Mutation_p.C425*|FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000378023.4_Nonsense_Mutation_p.C391*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.C391*	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	441					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGGTGAGGGCGCAGTCCCCGT	0.522																																																	0													72	73	73					6																	24843687		2014	4171	6185	SO:0001587	stop_gained	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1323C>A	6.37:g.24843687G>T	ENSP00000259698:p.Cys441*		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.C441*	ENST00000259698.4	37	c.1323	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015004	0.93404	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	.	.	.	5.23	-4.28	0.03732	.	0.227351	0.43416	D	0.000577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-12.3452	14.884	0.70555	0.4966:0.0:0.5034:0.0	.	.	.	.	X	441;420;391;391;425	.	ENSP00000259698:C441X	C	-	3	2	FAM65B	24951666	0.000000	0.05858	0.007000	0.13788	0.180000	0.23129	-0.990000	0.03732	-0.845000	0.04179	-0.254000	0.11334	TGC	FAM65B	-	NULL	ENSG00000111913		0.522	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0	98	0	G			24843687	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	0.002	T	T	24843687	G	T	24843687	4	4	82	1	0	0	0	0	0	1	0	0	5622	1079	38	2	1933	2	FAM65B	6	24843687	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	273552	24843687	146271380	102	21673											
MDC1	9656	genome.wustl.edu	37	chr6	30680055	30680055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgctggtcccccaactGctttcacatctgtttgattt	5	17	7	12	0	2	1	1	1	1	0	3	1	3	1	2	1	3	4	2	1	1	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:30680055G>A	ENST00000376406.3	-	5	2311	c.1664C>T	c.(1663-1665)gCa>gTa	p.A555V	MDC1_ENST00000494654.1_5'Flank|MDC1_ENST00000376405.2_Missense_Mutation_p.A555V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	555	Required for nuclear localization (NLS1).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TCCCCCAACTGCTTTCACATC	0.512								Other conserved DNA damage response genes																																									0													77	72	74					6																	30680055		1511	2709	4220	SO:0001583	missense	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.1664C>T	6.37:g.30680055G>A	ENSP00000365588:p.Ala555Val		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.A555V	ENST00000376406.3	37	c.1664	CCDS34384.1	6	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005283	0.19199	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.02944	4.19;4.1	4.47	0.103	0.14526	.	.	.	.	.	T	0.00524	0.0017	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.27882	0.192;0.192;0.056;0.008	B;B;B;B	0.24541	0.054;0.054;0.019;0.025	T	0.46428	-0.9192	9	0.14252	T	0.57	-0.5411	0.8298	0.01128	0.2168:0.1732:0.4076:0.2024	.	555;427;555;555	Q14676-2;B4DYH4;Q14676;Q14676-4	.;.;MDC1_HUMAN;.	V	555;555;555;427	ENSP00000365588:A555V;ENSP00000365587:A555V	ENSP00000365587:A555V	A	-	2	0	MDC1	30788034	0.004000	0.15560	0.139000	0.22197	0.216000	0.24613	0.966000	0.29331	0.147000	0.19030	0.462000	0.41574	GCA	MDC1	-	NULL	ENSG00000137337		0.512	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	32	0	G	NM_014641		30680055	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.002	A	A	30680055	G	A	30680055	3	1	82	1	0	0	0	0	1	0	0	0	9441	1319	46	3	4649	3	MDC1	6	30680055	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	5836368	30680055	140435012	103	21674											
DPCR1	135656	genome.wustl.edu	37	chr6	30917649	30917649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagagaaacgacagccaacGagaagaccacactatcccca	18	2	7	14	2	0	3	0	0	0	3	1	6	1	3	4	0	3	0	4	0	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:30917649G>A	ENST00000462446.1	+	2	1436	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	362						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GACAGCCAACGAGAAGACCAC	0.493																																																	0													327	395	374					6																	30917649		692	1591	2283	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1408G>A	6.37:g.30917649G>A	ENSP00000417182:p.Glu470Lys		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.E470K	ENST00000462446.1	37	c.1408	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	5.088	0.201879	0.09652	.	.	ENSG00000168631	ENST00000462446	T	0.42900	0.96	1.06	-1.18	0.09617	.	.	.	.	.	T	0.09468	0.0233	L	0.59436	1.845	0.48341	D	0.999636	P	0.40476	0.718	B	0.19946	0.027	T	0.38929	-0.9638	9	0.10902	T	0.67	.	5.0526	0.14516	0.62:0.0:0.38:0.0	.	470	E9PEI6	.	K	470	ENSP00000417182:E470K	ENSP00000417182:E470K	E	+	1	0	DPCR1	31025628	0.000000	0.05858	0.002000	0.10522	0.334000	0.28698	-0.026000	0.12392	-0.312000	0.08741	0.361000	0.22055	GAG	DPCR1	-	NULL	ENSG00000168631		0.493	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	-	0	88	0	G	NM_080870		30917649	1	tier1	-	no_errors	ENST00000462446	ensembl	human	novel	74_37	missense	6.41	73	5	SNP	0.748	A	A	30917649	G	A	30917649	3	1	82	1	0	0	0	0	1	0	0	0	4726	1059	37	1	1414	1	DPCR1	6	30917649	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	237594	30917649	140197418	104	21675											
PSORS1C1	170679	genome.wustl.edu	37	chr6	31106527	31106527	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgttaatcctgaccgactTtgccacatggagccagcaaa	12	8	8	13	2	0	1	0	1	0	0	1	3	1	2	4	1	3	2	4	1	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:31106527T>C	ENST00000259881.9	+	5	427	c.138T>C	c.(136-138)ctT>ctC	p.L46L	PSORS1C2_ENST00000259845.4_Intron|PSORS1C1_ENST00000547221.1_5'UTR|PSORS1C1_ENST00000481450.2_Intron	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	46										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CTGACCGACTTTGCCACATGG	0.562																																																	0													155	153	153					6																	31106527		1511	2709	4220	SO:0001819	synonymous_variant	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.138T>C	6.37:g.31106527T>C			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	NULL	p.L46	ENST00000259881.9	37	c.138	CCDS34390.1	6																																																																																			PSORS1C1	-	NULL	ENSG00000204540		0.562	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSORS1C1	HGNC	protein_coding	OTTHUMT00000076110.3	-	0	79	0	T	NM_014068		31106527	1	tier1	-	no_errors	ENST00000259881	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.000	C	C	31106527	T	C	31106527	2	2	82	1	0	0	0	0	0	0	0	1	12756	1828	64	4		4	PSORS1C1	6	31106527	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	188878	31106527	140008540	105	21676											
COL11A2	1302	genome.wustl.edu	37	chr6	33144959	33144959	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcacttagtcacttaccTtctctccatgagggccgatg	10	12	7	12	1	3	1	2	1	1	0	5	2	4	1	3	1	1	0	3	1	3	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:33144959T>G	ENST00000374708.4	-	22	2015	c.1757A>C	c.(1756-1758)aAg>aCg	p.K586T	COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374713.1_Splice_Site_p.K625T|COL11A2_ENST00000374714.1_Splice_Site_p.K646T|COL11A2_ENST00000341947.2_Splice_Site_p.K672T|COL11A2_ENST00000357486.1_Splice_Site_p.K651T|COL11A2_ENST00000361917.1_Splice_Site_p.K565T|COL11A2_ENST00000395197.1_Splice_Site_p.K612T|COL11A2_ENST00000374712.1_Splice_Site_p.K591T	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	672	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCACTTACCTTCTCTCCATG	0.547																																					Melanoma(1;90 116 3946 5341 17093)												0													57	66	63					6																	33144959		1509	2708	4217	SO:0001630	splice_region_variant	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1758+1A>C	6.37:g.33144959T>G			A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.K672T	ENST00000374708.4	37	c.2015	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	T	19.21	3.784210	0.70222	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.95778	0.8626	L	0.48362	1.52	0.58432	D	0.999999	D;D;D	0.62365	0.971;0.989;0.991	P;D;P	0.68943	0.907;0.961;0.771	D	0.95491	0.8569	10	0.48119	T	0.1	.	11.2112	0.48799	0.0:0.0:0.0:1.0	.	565;586;672	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	T	586;672;651;646;625;612;591;565	ENSP00000363840:K586T;ENSP00000339915:K672T;ENSP00000350079:K651T;ENSP00000363846:K646T;ENSP00000363845:K625T;ENSP00000378623:K612T;ENSP00000363844:K591T;ENSP00000355123:K565T	ENSP00000339915:K672T	K	-	2	0	COL11A2	33252937	1.000000	0.71417	0.997000	0.53966	0.685000	0.39939	4.385000	0.59613	1.755000	0.51935	0.523000	0.50628	AAG	COL11A2	-	NULL	ENSG00000204248		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	-	0	41	0	T		Missense_Mutation	33144959	-1	tier1	-	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G	G	33144959	T	G	33144959	5	3	82	1	0	0	0	0	0	0	1	0	3675	1623	56	4	3367	4	COL11A2	6	33144959	Splice_Site	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	2038432	33144959	137970108	106	21677											
KIF6	221458	genome.wustl.edu	37	chr6	39693059	39693059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggggcttcaccctcgCgaatatctggatagtctgct	8	10	12	11	2	3	0	1	0	2	0	4	3	3	1	1	3	1	2	1	3	3	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:39693059C>T	ENST00000287152.7	-	1	122	c.28G>A	c.(28-30)Gcg>Acg	p.A10T	KIF6_ENST00000373216.3_Missense_Mutation_p.A10T|KIF6_ENST00000538893.1_Missense_Mutation_p.A10T|KIF6_ENST00000373215.3_Missense_Mutation_p.A10T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	10	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCACCCTCGCGAATATCTGG	0.667																																																	0													171	182	178					6																	39693059		2203	4300	6503	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.28G>A	6.37:g.39693059C>T	ENSP00000287152:p.Ala10Thr		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A10T	ENST00000287152.7	37	c.28	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742385	0.89573	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.75	4.75	0.60458	Kinesin, motor domain (3);	.	.	.	.	T	0.70885	0.3275	L	0.54323	1.7	0.80722	D	1	D;D;D	0.71674	0.993;0.994;0.998	P;P;P	0.54346	0.749;0.746;0.739	T	0.74785	-0.3547	9	0.72032	D	0.01	.	16.051	0.80763	0.0:1.0:0.0:0.0	.	10;10;10	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	T	10	ENSP00000287152:A10T;ENSP00000362312:A10T;ENSP00000362311:A10T;ENSP00000441435:A10T	ENSP00000287152:A10T	A	-	1	0	KIF6	39801037	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.421000	0.59848	2.623000	0.88846	0.655000	0.94253	GCG	KIF6	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000164627		0.667	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0	57	0	C	NM_145027		39693059	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	T	T	39693059	C	T	39693059	3	4	82	1	0	0	0	0	1	0	0	0	8335	768	27	1	2508	1	KIF6	6	39693059	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	6548100	39693059	131422008	107	21678											
CAPN11	11131	genome.wustl.edu	37	chr6	44137711	44137711	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacatctgccaggggatcctCggtgagtggggcacaggaag	9	6	17	9	1	1	1	0	1	1	0	3	4	2	3	2	6	1	1	2	6	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:44137711C>T	ENST00000398776.1	+	4	446	c.408C>T	c.(406-408)ctC>ctT	p.L136L	CAPN11_ENST00000542245.1_Splice_Site_p.L136L	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	136	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGGATCCTCGGTGAGTGGG	0.547																																																	0													39	41	40					6																	44137711		1916	4114	6030	SO:0001630	splice_region_variant	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.409+1C>T	6.37:g.44137711C>T			B2RA64|Q5T3G1|Q8N4R5	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L136	ENST00000398776.1	37	c.408	CCDS47436.1	6																																																																																			CAPN11	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000137225		0.547	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3		0	69	0	C		Silent	44137711	1			no_errors	ENST00000398776	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.239	T	T	44137711	C	T	44137711	5	4	82	1	0	0	0	0	0	0	1	0	2631	898	31	1	422	1	CAPN11	6	44137711	Splice_Site	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	4444652	44137711	126977356	108	21679											
MEP1A	4224	genome.wustl.edu	37	chr6	46766383	46766383	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggggacatcctcttgcaGgtgagtacctgtcaatgatg	10	10	12	9	0	2	2	1	2	1	0	3	3	3	3	2	3	2	2	2	3	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:46766383G>T	ENST00000230588.4	+	4	195	c.186G>T	c.(184-186)caG>caT	p.Q62H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	62					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCCTCTTGCAGGTGAGTACCT	0.463																																																	0													72	71	71					6																	46766383		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.186+1G>T	6.37:g.46766383G>T			A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.Q62H	ENST00000230588.4	37	c.186	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	G	6.375	0.437367	0.12104	.	.	ENSG00000112818	ENST00000230588	T	0.24908	1.83	5.17	1.24	0.21308	.	2.341200	0.01911	N	0.039881	T	0.07908	0.0198	L	0.36672	1.1	0.18873	N	0.999989	B;B	0.31859	0.24;0.343	B;B	0.31245	0.109;0.126	T	0.23013	-1.0200	10	0.46703	T	0.11	-0.0013	4.2106	0.10510	0.2908:0.1811:0.5281:0.0	.	90;62	B7ZL91;Q16819	.;MEP1A_HUMAN	H	62	ENSP00000230588:Q62H	ENSP00000230588:Q62H	Q	+	3	2	MEP1A	46874342	0.001000	0.12720	0.321000	0.25320	0.136000	0.21042	-0.524000	0.06222	0.252000	0.21531	0.557000	0.71058	CAG	MEP1A	-	pirsf_Pept_M12A_Meprin	ENSG00000112818		0.463	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	-	0	42	0	G	NM_005588	Missense_Mutation	46766383	1	tier1	-	no_errors	ENST00000230588	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.235	T	T	46766383	G	T	46766383	5	4	82	1	0	0	0	0	0	0	1	0	9513	1014	35	3	200	3	MEP1A	6	46766383	Splice_Site	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2628672	46766383	124348684	109	21680											
MUT	4594	genome.wustl.edu	37	chr6	49425613	49425613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagtcatggaaactgacaTtttttctaaaggaattccat	14	14	6	7	0	2	1	1	1	1	0	3	3	3	3	1	2	1	0	1	2	5	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:49425613T>A	ENST00000274813.3	-	3	671	c.544A>T	c.(544-546)Atg>Ttg	p.M182L		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	182					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.M182fs*29(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACTGACATTTTTTCTAAA	0.388																																																	1	Insertion - Frameshift(1)	large_intestine(1)											66	68	67					6																	49425613		2203	4300	6503	SO:0001583	missense	0				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"methylmalonyl Coenzyme A mutase"			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.544A>T	6.37:g.49425613T>A	ENSP00000274813:p.Met182Leu		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.M182L	ENST00000274813.3	37	c.544	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985702	0.74589	.	.	ENSG00000146085	ENST00000274813	D	0.98234	-4.81	5.74	5.74	0.90152	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	M	0.91872	3.25	0.80722	D	1	P	0.46020	0.871	P	0.58331	0.837	D	0.99556	1.0967	10	0.72032	D	0.01	-1.6855	15.511	0.75782	0.0:0.0:0.0:1.0	.	182	P22033	MUTA_HUMAN	L	182	ENSP00000274813:M182L	ENSP00000274813:M182L	M	-	1	0	MUT	49533572	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.606000	0.82863	2.317000	0.78254	0.459000	0.35465	ATG	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat	ENSG00000146085		0.388	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1		0	34	0	T			49425613	-1			no_errors	ENST00000274813	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	A	A	49425613	T	A	49425613	3	1	82	1	0	0	0	0	1	0	0	0	10029	1493	52	5	1752	5	MUT	6	49425613	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	2659230	49425613	121689454	110	21681											
DST	667	genome.wustl.edu	37	chr6	56480682	56480682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttgttagtgatgggatggCcaatccctgtgattactaat	9	16	10	6	0	0	2	0	2	0	0	1	3	1	3	2	2	1	1	2	2	4	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:56480682C>T	ENST00000370765.6	-	24	7690	c.7583G>A	c.(7582-7584)gGc>gAc	p.G2528D	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1824					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGGGATGGCCAATCCCTGT	0.453																																																	0													90	90	90					6																	56480682		2203	4300	6503	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7583G>A	6.37:g.56480682C>T	ENSP00000359801:p.Gly2528Asp		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.G2528D	ENST00000370765.6	37	c.7583	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	6.317	0.426538	0.11987	.	.	ENSG00000151914	ENST00000370765	T	0.68181	-0.31	5.94	3.05	0.35203	.	.	.	.	.	T	0.35970	0.0950	.	.	.	0.18873	N	0.999983	B	0.26547	0.152	B	0.18871	0.023	T	0.32929	-0.9888	7	0.72032	D	0.01	.	7.6654	0.28428	0.3457:0.4147:0.2395:0.0	.	2528	Q03001-3	.	D	2528	ENSP00000359801:G2528D	ENSP00000359801:G2528D	G	-	2	0	DST	56588641	0.001000	0.12720	0.142000	0.22268	0.895000	0.52256	1.208000	0.32345	1.484000	0.48361	0.557000	0.71058	GGC	DST	-	smart_Plectin_repeat	ENSG00000151914		0.453	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	-	0	42	0	C	NM_001723		56480682	-1	tier1	-	no_errors	ENST00000370765	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.004	T	T	56480682	C	T	56480682	3	4	82	1	0	0	0	0	1	0	0	0	4797	739	26	3	12816	3	DST	6	56480682	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	7055069	56480682	114634385	111	21682											
BAI3	577	genome.wustl.edu	37	chr6	70042868	70042868	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgtttccagagatggAatcctagataaaaagctcaa	17	10	7	7	0	1	2	1	0	0	2	3	4	3	3	2	1	2	2	2	1	7	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:70042868A>G	ENST00000370598.1	+	24	3977	c.3156A>G	c.(3154-3156)ggA>ggG	p.G1052G	BAI3_ENST00000238918.8_Silent_p.G258G|BAI3_ENST00000546190.1_Silent_p.G16G	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1052					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCAGAGATGGAATCCTAGATA	0.373																																																	0													111	111	111					6																	70042868		2203	4299	6502	SO:0001819	synonymous_variant	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3156A>G	6.37:g.70042868A>G			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1052	ENST00000370598.1	37	c.3156	CCDS4968.1	6																																																																																			BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000135298		0.373	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	62	0	A			70042868	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	12.16	65	9	SNP	0.981	G	G	70042868	A	G	70042868	2	3	82	1	0	0	0	0	0	0	0	1	1301	233	9	4		4	BAI3	6	70042868	Silent	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	13562186	70042868	101072199	112	21683											
FAM46A	55603	genome.wustl.edu	37	chr6	82461324	82461324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgagcgtgagtggtgTgatcttctctttgttcaccc	5	16	10	10	1	3	3	1	3	2	0	4	3	3	3	2	1	2	1	2	1	1	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:82461324T>C	ENST00000320172.6	-	2	849	c.535A>G	c.(535-537)Aca>Gca	p.T179A	FAM46A_ENST00000369756.3_Missense_Mutation_p.T260A|FAM46A_ENST00000369754.3_Missense_Mutation_p.T198A	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	179					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		GTGAGTGGTGTGATCTTCTCT	0.607																																																	0													120	96	104					6																	82461324		2203	4300	6503	SO:0001583	missense	0			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"chromosome 6 open reading frame 37"	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.535A>G	6.37:g.82461324T>C	ENSP00000318298:p.Thr179Ala		A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.T198A	ENST00000320172.6	37	c.592	CCDS34489.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.70|15.70	2.910396|2.910396	0.52439|0.52439	.|.	.|.	ENSG00000112773|ENSG00000112773	ENST00000412306|ENST00000369754;ENST00000320172;ENST00000369756	.|T;T;T	.|0.23348	.|1.91;1.91;1.91	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Domain of unknown function DUF1693 (1);	.|0.142496	.|0.64402	.|D	.|0.000006	T|T	0.27489|0.27489	0.0675|0.0675	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	.|B;B	.|0.32101	.|0.124;0.356	.|B;B	.|0.35182	.|0.172;0.197	T|T	0.19224|0.19224	-1.0312|-1.0312	5|10	.|0.56958	.|D	.|0.05	-28.654|-28.654	15.0433|15.0433	0.71807|0.71807	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|179;198	.|Q96IP4;Q96IP4-2	.|FA46A_HUMAN;.	R|A	69|198;179;260	.|ENSP00000358769:T198A;ENSP00000318298:T179A;ENSP00000358771:T260A	.|ENSP00000318298:T179A	H|T	-|-	2|1	0|0	FAM46A|FAM46A	82518043|82518043	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.352000|0.352000	0.29268|0.29268	4.911000|4.911000	0.63328|0.63328	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	CAC|ACA	FAM46A	-	pfam_DUF1693	ENSG00000112773		0.607	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1	-	0	44	0	T			82461324	-1	tier1	-	no_errors	ENST00000369754	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	C	C	82461324	T	C	82461324	3	2	82	1	0	0	0	0	1	0	0	0	5587	1696	59	4	801	4	FAM46A	6	82461324	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	12418456	82461324	88653743	113	21684											
SNAP91	9892	genome.wustl.edu	37	chr6	84366506	84366506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaccatcattgtagcaagCaaaaagtttgataagatctt	17	11	6	7	0	2	2	1	1	1	1	2	2	2	2	1	0	3	4	1	0	6	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:84366506C>A	ENST00000439399.2	-	7	941	c.625G>T	c.(625-627)Gct>Tct	p.A209S	SNAP91_ENST00000428679.2_Missense_Mutation_p.A209S|SNAP91_ENST00000437520.1_Missense_Mutation_p.A209S|SNAP91_ENST00000369694.2_Missense_Mutation_p.A209S|SNAP91_ENST00000520213.1_Missense_Mutation_p.A209S|SNAP91_ENST00000520302.1_Missense_Mutation_p.A209S|SNAP91_ENST00000521743.1_Missense_Mutation_p.A209S|SNAP91_ENST00000195649.6_Missense_Mutation_p.A209S|SNAP91_ENST00000521485.1_Missense_Mutation_p.A209S	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	209					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTGTAGCAAGCAAAAAGTTTG	0.358																																																	0													113	107	109					6																	84366506		1883	4110	5993	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"synaptosomal-associated protein, 91 kDa (mouse) homolog", "synaptosomal-associated protein, 91kDa homolog (mouse)"			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.625G>T	6.37:g.84366506C>A	ENSP00000400459:p.Ala209Ser		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.A209S	ENST00000439399.2	37	c.625	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.274771	0.95459	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.11	5.11	0.69529	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.61697	0.99;0.976;0.99;0.976	D;D;D;D	0.79784	0.992;0.989;0.993;0.989	T	0.56226	-0.8014	10	0.87932	D	0	-13.5066	18.8994	0.92435	0.0:1.0:0.0:0.0	.	209;209;209;209	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	S	209	ENSP00000429776:A209S;ENSP00000358708:A209S;ENSP00000400459:A209S;ENSP00000195649:A209S;ENSP00000412492:A209S;ENSP00000413277:A209S;ENSP00000428511:A209S;ENSP00000428215:A209S;ENSP00000428026:A209S;ENSP00000430071:A209S	ENSP00000195649:A209S	A	-	1	0	SNAP91	84423225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.543000	0.85770	0.467000	0.42956	GCT	SNAP91	-	pfam_ANTH_dom	ENSG00000065609		0.358	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	-	0	40	0	C			84366506	-1	tier1	-	no_errors	ENST00000369694	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A	A	84366506	C	A	84366506	3	1	82	1	0	0	0	0	1	0	0	0	14878	710	25	3	2186	3	SNAP91	6	84366506	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1905182	84366506	86748561	114	21685											
REV3L	5980	genome.wustl.edu	37	chr6	111688631	111688631	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggaattactggagaatcAggggagctataactaatgta	14	9	14	4	0	1	1	1	0	0	1	1	4	1	3	0	5	3	2	0	5	7	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:111688631A>G	ENST00000358835.3	-	15	6814	c.6360T>C	c.(6358-6360)ccT>ccC	p.P2120P	REV3L_ENST00000435970.1_Silent_p.P2042P|REV3L_ENST00000368805.1_Silent_p.P2120P|REV3L_ENST00000368802.3_Silent_p.P2120P			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2120					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGGAGAATCAGGGGAGCTAT	0.443								DNA polymerases (catalytic subunits)																																									0													144	141	142					6																	111688631		2203	4300	6503	SO:0001819	synonymous_variant	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.6360T>C	6.37:g.111688631A>G			O43214|Q5TC33	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.P2120	ENST00000358835.3	37	c.6360	CCDS5091.2	6																																																																																			REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.443	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	84	0	A	NM_002912		111688631	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	silent	7.14	51	4	SNP	0.997	G	G	111688631	A	G	111688631	2	3	82	1	0	0	0	0	0	0	0	1	13285	175	7	4		4	REV3L	6	111688631	Silent	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	27322125	111688631	59426436	115	21686											
EPB41L2	2037	genome.wustl.edu	37	chr6	131229998	131229998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttctttagcaggatctaaCcagttctgcatgagggaaaa	13	12	9	7	0	3	1	0	1	3	0	3	3	3	3	1	2	3	3	1	2	4	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:131229998C>G	ENST00000337057.3	-	5	997	c.816G>C	c.(814-816)tgG>tgC	p.W272C	EPB41L2_ENST00000368128.2_Missense_Mutation_p.W272C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.W272C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.W272C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.W272C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.W272C|EPB41L2_ENST00000525271.1_Missense_Mutation_p.W272C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.W272C|EPB41L2_ENST00000392427.3_Missense_Mutation_p.W272C|EPB41L2_ENST00000527659.1_Missense_Mutation_p.W272C|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525193.1_Missense_Mutation_p.W272C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	272	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGGATCTAACCAGTTCTGCA	0.264																																																	0													49	50	49					6																	131229998		2195	4283	6478	SO:0001583	missense	0			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.816G>C	6.37:g.131229998C>G	ENSP00000338481:p.Trp272Cys		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain	p.W272C	ENST00000337057.3	37	c.816	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352350	0.41700	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	4.92	4.92	0.64577	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.122449	0.64402	D	0.000011	D	0.96386	0.8821	H	0.99026	4.405	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.985;0.999	D	0.98063	1.0394	10	0.87932	D	0	.	17.8935	0.88879	0.0:1.0:0.0:0.0	.	272;272;272;272;272	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	C	272	ENSP00000434308:W272C;ENSP00000434576:W272C;ENSP00000402041:W272C;ENSP00000338481:W272C;ENSP00000376222:W272C;ENSP00000357110:W272C;ENSP00000436348:W272C;ENSP00000432803:W272C;ENSP00000431988:W272C;ENSP00000431647:W272C;ENSP00000436641:W272C	ENSP00000338481:W272C	W	-	3	0	EPB41L2	131271691	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	6.990000	0.76225	2.539000	0.85634	0.561000	0.74099	TGG	EPB41L2	-	pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000079819		0.264	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	-	0	109	0	C			131229998	-1	tier1	-	no_errors	ENST00000337057	ensembl	human	known	74_37	missense	7.61	85	7	SNP	1.000	G	G	131229998	C	G	131229998	3	3	82	1	0	0	0	0	1	0	0	0	5169	508	18	5	2261	5	EPB41L2	6	131229998	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	19541367	131229998	39885069	116	21687											
BCLAF1	9774	genome.wustl.edu	37	chr6	136599172	136599172	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgagaaggactgtatcGactagatccatttccaacag	13	11	8	9	1	1	2	0	1	1	2	4	5	3	3	2	1	1	1	2	1	4	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:136599172G>T	ENST00000531224.1	-	4	1099	c.847C>A	c.(847-849)Cga>Aga	p.R283R	BCLAF1_ENST00000530767.1_Silent_p.R283R|BCLAF1_ENST00000353331.4_Silent_p.R281R|BCLAF1_ENST00000527536.1_Silent_p.R283R|BCLAF1_ENST00000527759.1_Silent_p.R281R|BCLAF1_ENST00000392348.2_Silent_p.R281R	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	283					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGACTGTATCGACTAGATCCA	0.438																																					Colon(142;1534 1789 5427 7063 28491)												0													107	95	99					6																	136599172		2203	4300	6503	SO:0001819	synonymous_variant	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.847C>A	6.37:g.136599172G>T			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.R283	ENST00000531224.1	37	c.847	CCDS5177.1	6																																																																																			BCLAF1	-	NULL	ENSG00000029363		0.438	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	-	0	180	0	G	NM_014739		136599172	-1	tier1	-	no_errors	ENST00000531224	ensembl	human	known	74_37	silent	11.21	103	13	SNP	1.000	T	T	136599172	G	T	136599172	2	4	82	1	0	0	0	0	0	0	0	1	1384	1066	37	2		2	BCLAF1	6	136599172	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	5369174	136599172	34515895	117	21688											
GPR126	57211	genome.wustl.edu	37	chr6	142689023	142689023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttagcatccagaagaaaGgtttcaatgccagctacatc	14	10	7	10	0	1	2	1	0	0	2	3	2	2	2	2	1	4	3	2	1	5	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:142689023G>T	ENST00000230173.6	+	3	897	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367609.3_Missense_Mutation_p.G141C|GPR126_ENST00000367608.2_Missense_Mutation_p.G141C|GPR126_ENST00000296932.8_Missense_Mutation_p.G141C	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	141	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCAGAAGAAAGGTTTCAATGC	0.413																																																	0													77	72	74					6																	142689023		1902	4116	6018	SO:0001583	missense	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.421G>T	6.37:g.142689023G>T	ENSP00000230173:p.Gly141Cys		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.G141C	ENST00000230173.6	37	c.421	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830901	0.91036	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199;ENST00000435011	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.38	5.38	0.77491	CUB (5);	0.000000	0.64402	D	0.000007	T	0.73552	0.3601	H	0.98388	4.22	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.84939	0.0864	10	0.87932	D	0	.	19.1362	0.93429	0.0:0.0:1.0:0.0	.	141;141;141;141;140	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	C	141;141;141;141;140;141	ENSP00000230173:G141C;ENSP00000356580:G141C;ENSP00000296932:G141C;ENSP00000356581:G141C;ENSP00000446287:G140C;ENSP00000438366:G141C	ENSP00000230173:G141C	G	+	1	0	GPR126	142730716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.516000	0.84829	0.650000	0.86243	GGT	GPR126	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000112414		0.413	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2		0	16	0	G			142689023	1			no_errors	ENST00000367609	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	142689023	G	T	142689023	3	4	82	1	0	0	0	0	1	0	0	0	6666	1000	35	3	431	3	GPR126	6	142689023	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	6089851	142689023	28426044	118	21689											
STX11	8676	genome.wustl.edu	37	chr6	144508350	144508350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccgagaacttgctggccGacgtgaagggcgcgcgggcc	6	7	16	12	6	0	2	0	1	0	1	1	4	1	2	3	3	2	1	3	3	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:144508350G>A	ENST00000367568.4	+	2	769	c.586G>A	c.(586-588)Gac>Aac	p.D196N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	196					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)	p.D196N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CTTGCTGGCCGACGTGAAGGG	0.637									Familial Hemophagocytic Lymphohistiocytosis																																								1	Substitution - Missense(1)	lung(1)											42	49	47					6																	144508350		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.586G>A	6.37:g.144508350G>A	ENSP00000356540:p.Asp196Asn		E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D196N	ENST00000367568.4	37	c.586	CCDS5205.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.404984	0.96051	.	.	ENSG00000135604	ENST00000367568	T	0.21734	1.99	5.18	5.18	0.71444	t-SNARE (1);	0.051520	0.85682	D	0.000000	T	0.23451	0.0567	M	0.83774	2.66	0.80722	D	1	P	0.52463	0.953	B	0.41988	0.372	T	0.31475	-0.9942	10	0.72032	D	0.01	-27.99	18.321	0.90238	0.0:0.0:1.0:0.0	.	196	O75558	STX11_HUMAN	N	196	ENSP00000356540:D196N	ENSP00000356540:D196N	D	+	1	0	STX11	144550043	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.799000	0.99117	2.413000	0.81919	0.655000	0.94253	GAC	STX11	-	superfamily_t-SNARE	ENSG00000135604		0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1		0	75	0	G			144508350	1			no_errors	ENST00000367568	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	A	A	144508350	G	A	144508350	3	1	82	1	0	0	0	0	1	0	0	0	15384	1058	37	1	588	1	STX11	6	144508350	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1819327	144508350	26606717	119	21690											
MYCT1	80177	genome.wustl.edu	37	chr6	153042973	153042973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtctgtctcgaagaagaaGagccagtgctcccatctcac	10	10	9	12	1	3	3	1	0	3	3	6	4	4	3	2	0	2	1	2	0	3	1	rs140600605		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:153042973G>A	ENST00000367245.5	+	2	301	c.293G>A	c.(292-294)aGa>aAa	p.R98K	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	98						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CGAAGAAGAAGAGCCAGTGCT	0.493																																																	0													155	140	145					6																	153042973		2203	4300	6503	SO:0001583	missense	0			AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.293G>A	6.37:g.153042973G>A	ENSP00000356214:p.Arg98Lys		Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	NULL	p.R98K	ENST00000367245.5	37	c.293	CCDS5239.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.448092|4.448092	0.84101|0.84101	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000532295|ENST00000367245	.|T	.|0.54866	.|0.55	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.448255	.|0.17047	.|U	.|0.189084	T|T	0.67878|0.67878	0.2940|0.2940	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.76071	.|0.987	T|T	0.62690|0.62690	-0.6801|-0.6801	5|10	.|0.31617	.|T	.|0.26	-22.7629|-22.7629	19.6178|19.6178	0.95640|0.95640	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|98	.|Q8N699	.|MYCT1_HUMAN	K|K	79|98	.|ENSP00000356214:R98K	.|ENSP00000356214:R98K	E|R	+|+	1|2	0|0	MYCT1|MYCT1	153084666|153084666	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.524000|5.524000	0.67105|0.67105	2.634000|2.634000	0.89283|0.89283	0.441000|0.441000	0.28932|0.28932	GAG|AGA	MYCT1	-	NULL	ENSG00000120279		0.493	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCT1	HGNC	protein_coding	OTTHUMT00000042750.2	-	0	46	0	G	NM_025107		153042973	1	tier1	-	no_errors	ENST00000367245	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	A	A	153042973	G	A	153042973	3	1	82	1	0	0	0	0	1	0	0	0	10060	942	33	3	299	3	MYCT1	6	153042973	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	8534623	153042973	18072094	120	21691											
SYNJ2	8871	genome.wustl.edu	37	chr6	158505199	158505199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagaagcagcatccaacGtacaaaggtagcctgaccct	17	5	8	11	1	0	2	0	1	0	1	1	2	1	2	3	1	5	4	3	1	7	2	rs149771444	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:158505199G>A	ENST00000355585.4	+	22	3276	c.3201G>A	c.(3199-3201)acG>acA	p.T1067T	SYNJ2_ENST00000367121.3_Silent_p.T1067T|SYNJ2_ENST00000367112.1_Silent_p.T152T|SYNJ2_ENST00000367122.2_Silent_p.T1067T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1067					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCATCCAACGTACAAAGGTA	0.552																																																	0								G	,	0,4406		0,0,2203	109	113	112		2490,3201	-3.3	1	6	dbSNP_134	112	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	SYNJ2	NM_001178088.1,NM_003898.3	,	0,8,6495	AA,AG,GG		0.093,0.0,0.0615	,	830/1260,1067/1497	158505199	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3201G>A	6.37:g.158505199G>A			Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.T1067	ENST00000355585.4	37	c.3201	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.552	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2		0	66	0	G			158505199	1			no_errors	ENST00000355585	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.982	A	A	158505199	G	A	158505199	2	1	82	1	0	0	0	0	0	0	0	1	15500	1132	40	1		1	SYNJ2	6	158505199	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	5462226	158505199	12609868	121	21692											
SLC22A2	6582	genome.wustl.edu	37	chr6	160668305	160668306	+	Frame_Shift_Ins	INS	-	-	C																															ttcttattctgggagatcagINSccacctgggagactcaggta																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:160668305_160668306insC	ENST00000366953.3	-	5	1125_1126	c.867_868insG	c.(865-870)tggctgfs	p.L290fs	SLC22A2_ENST00000366952.1_Frame_Shift_Ins_p.L269fs|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	290					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	TGGGAGATCAGCCACCTGGGAG	0.48																																																	0																																										SO:0001589	frameshift_variant	0			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"Solute carriers"	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.868dupG	6.37:g.160668307_160668307dupC	ENSP00000355920:p.Leu290fs		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Frame_Shift_Ins	INS	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.L289fs	ENST00000366953.3	37	c.868_867	CCDS5276.1	6																																																																																			SLC22A2	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000112499		0.48	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1		0	85	0	0	NM_003058		160668306	-1			no_errors	ENST00000366953	ensembl	human	known	74_37	frame_shift_ins	8.14	79	7	INS	1.000:1.000	C	C	160668306	-	C	160668305	7	5	82	1	0	1	1	0	0	0	0	0	14495	962	34	0	827	0	SLC22A2	6	160668305	Frame_Shift_Ins	INS	-	TCGA-L5-A8NH-01A-11D-A37C-09	2163106	160668305	10446762	122	21693											
LPA	4018	genome.wustl.edu	37	chr6	161007564	161007564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatcactggacattgcGtcaggttgcagtactcccat	9	12	8	12	1	2	0	2	0	0	0	4	1	4	1	2	2	3	3	2	2	1	4	rs201200716		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:161007564G>A	ENST00000316300.5	-	25	4090	c.4046C>T	c.(4045-4047)aCg>aTg	p.T1349M	LPA_ENST00000447678.1_Missense_Mutation_p.T1349M			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3857	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGACATTGCGTCAGGTTGCA	0.522																																																	0													134	135	135					6																	161007564		2168	4284	6452	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4046C>T	6.37:g.161007564G>A	ENSP00000321334:p.Thr1349Met		Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.T1349M	ENST00000316300.5	37	c.4046	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	g	13.44	2.236416	0.39498	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.62941	-0.01;-0.01	2.39	-4.03	0.04021	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.50463	0.1617	L	0.46670	1.46	0.09310	N	0.999999	D	0.71674	0.998	D	0.79784	0.993	T	0.46020	-0.9221	9	0.54805	T	0.06	.	5.0802	0.14653	0.0:0.1932:0.2003:0.6065	.	3857	P08519	APOA_HUMAN	M	1349	ENSP00000321334:T1349M;ENSP00000395608:T1349M	ENSP00000321334:T1349M	T	-	2	0	LPA	160927554	0.002000	0.14202	0.316000	0.25252	0.413000	0.31143	-0.365000	0.07573	-1.024000	0.03338	0.436000	0.28706	ACG	LPA	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000198670		0.522	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	-	0	90	0	G	NM_005577		161007564	-1	tier1	rs201200716	no_errors	ENST00000316300	ensembl	human	known	74_37	missense	37.18	49	29	SNP	0.337	A	A	161007564	G	A	161007564	3	1	82	1	0	0	0	0	1	0	0	0	8938	1145	40	1	2136	1	LPA	6	161007564	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	339259	161007564	10107503	123	21694											
MAP3K4	4216	genome.wustl.edu	37	chr6	161470619	161470619	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaccatccaaaggtaatGagccggagtatgagggtgat	12	8	13	8	2	0	3	0	3	0	0	2	5	1	4	3	3	1	2	3	3	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr6:161470619G>T	ENST00000392142.4	+	3	1463	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E439*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E439*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E439*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	439					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAAAGGTAATGAGCCGGAGTA	0.443																																																	0													86	85	85					6																	161470619		2203	4300	6503	SO:0001587	stop_gained	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1315G>T	6.37:g.161470619G>T	ENSP00000375986:p.Glu439*		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E439*	ENST00000392142.4	37	c.1315	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.666391	0.98422	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.82	5.82	0.92795	.	0.301547	0.30800	N	0.008847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-18.652	18.2771	0.90087	0.0:0.0:1.0:0.0	.	.	.	.	X	439	.	ENSP00000297332:E439X	E	+	1	0	MAP3K4	161390609	1.000000	0.71417	0.026000	0.17262	0.996000	0.88848	8.822000	0.92013	2.751000	0.94390	0.650000	0.86243	GAG	MAP3K4	-	NULL	ENSG00000085511		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3		0	50	0	G			161470619	1			no_errors	ENST00000392142	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	0.945	T	T	161470619	G	T	161470619	4	4	82	1	0	0	0	0	0	1	0	0	9290	1291	45	3	1325	3	MAP3K4	6	161470619	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	463055	161470619	9644448	124	21695											
UNCX	340260	genome.wustl.edu	37	chr7	1273297	1273297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgcgcgaggcgctggCgctgcgcctagacctggtcg	4	8	16	13	6	1	1	1	0	0	1	2	2	1	1	2	3	2	3	2	3	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:1273297C>T	ENST00000316333.8	+	2	527	c.416C>T	c.(415-417)gCg>gTg	p.A139V		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	139					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GAGGCGCTGGCGCTGCGCCTA	0.687																																																	0													46	49	48					7																	1273297		2203	4300	6503	SO:0001583	missense	0				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"Homeoboxes / PRD class"	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.416C>T	7.37:g.1273297C>T	ENSP00000314480:p.Ala139Val		A4D221	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A139V	ENST00000316333.8	37	c.416	CCDS34583.1	7	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035437	0.54896	.	.	ENSG00000164853	ENST00000316333	D	0.98362	-4.89	3.89	2.96	0.34315	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.99306	0.9757	H	0.98333	4.205	0.50813	D	0.999891	D	0.89917	1.0	D	0.97110	1.0	D	0.98640	1.0675	10	0.87932	D	0	-23.444	11.7135	0.51639	0.1783:0.8217:0.0:0.0	.	139	A6NJT0	UNC4_HUMAN	V	139	ENSP00000314480:A139V	ENSP00000314480:A139V	A	+	2	0	UNCX	1239823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.515000	0.81761	0.721000	0.32231	0.478000	0.44815	GCG	UNCX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000164853		0.687	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	-	0	118	0	C	NM_001080461		1273297	1	tier1	-	no_errors	ENST00000316333	ensembl	human	known	74_37	missense	6.87	122	9	SNP	1.000	T	T	1273297	C	T	1273297	3	4	82	1	0	0	0	0	1	0	0	0	17047	768	27	1	422	1	UNCX	7	1273297	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		1273297	157865366	125	21696											
PMS2	5395	genome.wustl.edu	37	chr7	6026831	6026831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccctgtcccctggggagCtggccgcatactcgctgctg	4	8	13	16	2	0	0	0	0	0	0	2	1	1	1	5	3	4	4	5	3	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:6026831C>T	ENST00000265849.7	-	11	1670	c.1565G>A	c.(1564-1566)aGc>aAc	p.S522N	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S522N|PMS2_ENST00000441476.2_Missense_Mutation_p.S416N|PMS2_ENST00000382321.4_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	522					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCCTGGGGAGCTGGCCGCATA	0.587			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													65	70	68					7																	6026831		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1565G>A	7.37:g.6026831C>T	ENSP00000265849:p.Ser522Asn		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.S522N	ENST00000265849.7	37	c.1565	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	c	10.36	1.329978	0.24167	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.87887	1.06;1.06;-2.31	5.95	3.18	0.36537	.	1.341090	0.04415	N	0.366639	D	0.82875	0.5132	L	0.42245	1.32	0.09310	N	1	B;B;B	0.18610	0.01;0.009;0.029	B;B;B	0.15870	0.006;0.004;0.014	T	0.62139	-0.6917	10	0.16420	T	0.52	-4.2898	9.6338	0.39795	0.0:0.7024:0.0:0.2976	.	522;522;416	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	N	522;475;416;522	ENSP00000265849:S522N;ENSP00000392843:S416N;ENSP00000384308:S522N	ENSP00000265849:S522N	S	-	2	0	PMS2	5993357	0.043000	0.20138	0.115000	0.21578	0.015000	0.08874	0.298000	0.19120	0.417000	0.25871	0.650000	0.86243	AGC	PMS2	-	NULL	ENSG00000122512		0.587	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3		0	79	0	C	NM_000535		6026831	-1			no_errors	ENST00000265849	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.174	T	T	6026831	C	T	6026831	3	4	82	1	0	0	0	0	1	0	0	0	12182	797	28	3	1043	3	PMS2	7	6026831	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	4753534	6026831	153111832	126	21697											
CBX3	11335	genome.wustl.edu	37	chr7	26246030	26246030	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaagagtaaaaaagttGaagaggcagagcctgaagaa	20	5	13	3	0	0	6	0	2	0	4	0	7	0	7	1	2	1	3	1	2	7	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:26246030G>T	ENST00000337620.4	+	3	495	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	CBX3_ENST00000497498.1_3'UTR|CBX3_ENST00000409747.1_Nonsense_Mutation_p.E23*|CBX3_ENST00000396386.2_Nonsense_Mutation_p.E23*	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3	23					chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TAAAAAAGTTGAAGAGGCAGA	0.333																																																	0													93	95	94					7																	26246030		2203	4300	6503	SO:0001587	stop_gained	0			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"HP1 gamma homolog (Drosophila)"	604477	"chromobox homolog 3 (Drosophila HP1 gamma)"			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.67G>T	7.37:g.26246030G>T	ENSP00000336687:p.Glu23*		Q96CD7|Q99409|Q9BVS3|Q9P0Z6	Nonsense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E23*	ENST00000337620.4	37	c.67	CCDS5398.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.638799	0.99585	.	.	ENSG00000122565	ENST00000337620;ENST00000396386;ENST00000456948;ENST00000409747	.	.	.	5.75	5.75	0.90469	.	0.155203	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	20.312	0.98644	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000336687:E23X	E	+	1	0	CBX3	26212555	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.215000	0.65241	2.880000	0.98712	0.655000	0.94253	GAA	CBX3	-	superfamily_Chromodomain-like	ENSG00000122565		0.333	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX3	HGNC	protein_coding	OTTHUMT00000214117.1	-	0	49	0	G	NM_007276		26246030	1	tier1	-	no_errors	ENST00000337620	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	T	T	26246030	G	T	26246030	4	4	82	1	0	0	0	0	0	1	0	0	2726	1291	45	3	73	3	CBX3	7	26246030	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	20219199	26246030	132892633	127	21698											
RALA	5898	genome.wustl.edu	37	chr7	39730055	39730055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatggggaggaagtccaGatcgatatcttagatacagc	13	9	12	7	1	1	3	0	0	1	3	3	6	2	5	1	3	2	0	1	3	5	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:39730055G>T	ENST00000005257.2	+	3	569	c.189G>T	c.(187-189)caG>caT	p.Q63H	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	63					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q63Q(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						AGGAAGTCCAGATCGATATCT	0.458																																																	1	Substitution - coding silent(1)	skin(1)											96	100	99					7																	39730055		2203	4300	6503	SO:0001583	missense	0				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"RAS-like protein A", "Ras-related protein Ral-A", "Ras family small GTP binding protein RALA", "ras related GTP binding protein A"	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.189G>T	7.37:g.39730055G>T	ENSP00000005257:p.Gln63His		A4D1W3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q63H	ENST00000005257.2	37	c.189	CCDS5460.1	7	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960976	0.34565	.	.	ENSG00000006451	ENST00000005257;ENST00000436179	T;T	0.76968	-1.06;-1.06	4.76	4.76	0.60689	Small GTP-binding protein domain (1);	0.115588	0.64402	D	0.000006	T	0.64294	0.2585	N	0.17248	0.465	0.80722	D	1	B	0.18741	0.03	B	0.22753	0.041	T	0.64326	-0.6434	10	0.87932	D	0	.	11.8738	0.52536	0.0918:0.0:0.9082:0.0	.	63	P11233	RALA_HUMAN	H	63	ENSP00000005257:Q63H;ENSP00000388975:Q63H	ENSP00000005257:Q63H	Q	+	3	2	RALA	39696580	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.357000	0.59436	2.477000	0.83638	0.305000	0.20034	CAG	RALA	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000006451		0.458	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALA	HGNC	protein_coding	OTTHUMT00000250696.2		0	51	0	G	NM_005402		39730055	1			no_errors	ENST00000005257	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	39730055	G	T	39730055	3	4	82	1	0	0	0	0	1	0	0	0	13055	933	33	3	195	3	RALA	7	39730055	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	13484025	39730055	119408608	128	21699											
NPC1L1	29881	genome.wustl.edu	37	chr7	44555474	44555474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgatcaggaggttgaGgcggaagaagaagatctgaa	15	6	16	4	1	2	7	1	3	1	4	2	9	2	9	0	4	0	1	0	4	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:44555474G>T	ENST00000289547.4	-	19	3860	c.3805C>A	c.(3805-3807)Ctc>Atc	p.L1269I	NPC1L1_ENST00000381160.3_Missense_Mutation_p.L1242I|NPC1L1_ENST00000546276.1_Missense_Mutation_p.L1196I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1269					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGGAGGTTGAGGCGGAAGAAG	0.602																																																	0													74	75	75					7																	44555474		2203	4300	6503	SO:0001583	missense	0				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"NPC1 (Niemann-Pick disease, type C1, gene)-like 1"			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3805C>A	7.37:g.44555474G>T	ENSP00000289547:p.Leu1269Ile		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.L1269I	ENST00000289547.4	37	c.3805	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980133	0.53827	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.85258	-1.96;-1.96;-1.96	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000001	D	0.85314	0.5668	N	0.17594	0.5	0.37469	D	0.915535	D;P;D	0.69078	0.974;0.947;0.997	P;P;D	0.65443	0.837;0.837;0.935	D	0.85604	0.1254	10	0.29301	T	0.29	-44.1788	16.8388	0.85963	0.0:0.0:1.0:0.0	.	1196;1242;1269	B7ZLE6;Q17RV5;D3DVK9	.;.;.	I	1269;1242;1196	ENSP00000289547:L1269I;ENSP00000370552:L1242I;ENSP00000438033:L1196I	ENSP00000289547:L1269I	L	-	1	0	NPC1L1	44521999	1.000000	0.71417	1.000000	0.80357	0.304000	0.27724	1.910000	0.39927	2.589000	0.87451	0.561000	0.74099	CTC	NPC1L1	-	pfam_Patched	ENSG00000015520		0.602	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	-	0	36	0	G	NM_013389		44555474	-1	tier1	-	no_errors	ENST00000289547	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	44555474	G	T	44555474	3	4	82	1	0	0	0	0	1	0	0	0	10610	1000	35	3	282	3	NPC1L1	7	44555474	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	4825419	44555474	114583189	129	21700											
ABCA13	154664	genome.wustl.edu	37	chr7	48315875	48315875	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcagttgttcagctgctTtttgaaaacatcctaattaa	11	17	5	8	0	2	1	2	1	1	0	4	1	3	1	1	0	3	4	1	0	4	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:48315875T>G	ENST00000435803.1	+	17	6636	c.6612T>G	c.(6610-6612)ctT>ctG	p.L2204L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2204					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAGCTGCTTTTTGAAAACA	0.333																																																	0													26	23	24					7																	48315875		1805	4062	5867	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6612T>G	7.37:g.48315875T>G			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L2204	ENST00000435803.1	37	c.6612	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.333	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	72	0	T	NM_152701		48315875	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	silent	34.62	51	27	SNP	0.975	G	G	48315875	T	G	48315875	2	3	82	1	0	0	0	0	0	0	0	1	31	1828	64	4		4	ABCA13	7	48315875	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	3760401	48315875	110822788	130	21701											
ZNF789	285989	genome.wustl.edu	37	chr7	99081750	99081750	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggaataggaaggcttcCggtagtgcttgcccaggtgg	8	9	16	8	1	0	0	0	0	0	0	1	2	1	2	2	6	2	3	2	6	4	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:99081750C>A	ENST00000331410.5	+	4	519	c.249C>A	c.(247-249)tcC>tcA	p.S83S	ZNF789_ENST00000448667.1_Silent_p.S76S|ZNF789_ENST00000494186.1_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S83S(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAAGGCTTCCGGTAGTGCTT	0.542																																																	1	Substitution - coding silent(1)	ovary(1)											110	105	107					7																	99081750		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"Zinc fingers, C2H2-type", "-"	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.249C>A	7.37:g.99081750C>A			A4D282|A6NH61|Q6ZMZ9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S83	ENST00000331410.5	37	c.249	CCDS34693.1	7																																																																																			ZNF789	-	NULL	ENSG00000198556		0.542	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF789	HGNC	protein_coding	OTTHUMT00000336266.1		0	58	0	C	NM_213603		99081750	1			no_errors	ENST00000331410	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.000	A	A	99081750	C	A	99081750	2	1	82	1	0	0	0	0	0	0	0	1	18208	639	23	2		2	ZNF789	7	99081750	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	50765875	99081750	60056913	131	21702											
ZKSCAN1	7586	genome.wustl.edu	37	chr7	99630966	99630966	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacgaggagtcaacctcaAaggctgaaacctcggaagat	16	5	11	9	2	2	3	2	1	0	2	3	6	2	5	2	3	3	1	2	3	5	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:99630966A>G	ENST00000324306.6	+	6	1072	c.838A>G	c.(838-840)Aag>Gag	p.K280E	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K67E|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K244E	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	280	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTCAACCTCAAAGGCTGAAAC	0.443																																																	0													53	55	54					7																	99630966		2203	4300	6503	SO:0001583	missense	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"Zinc fingers, C2H2-type", "-", "-", "-"	13101	protein-coding gene	gene with protein product		601260	"zinc finger protein 36 (KOX 18)"	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.838A>G	7.37:g.99630966A>G	ENSP00000323148:p.Lys280Glu		A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.K280E	ENST00000324306.6	37	c.838	CCDS34698.1	7	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304289	0.40795	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.07327	3.28;3.24;3.2	5.64	5.64	0.86602	Krueppel-associated box (3);	0.000000	0.56097	D	0.000030	T	0.08891	0.0220	L	0.33624	1.015	0.27756	N	0.943982	B	0.26483	0.15	B	0.26094	0.066	T	0.12682	-1.0538	10	0.87932	D	0	.	13.8576	0.63537	1.0:0.0:0.0:0.0	.	280	P17029	ZKSC1_HUMAN	E	280;244;67	ENSP00000323148:K280E;ENSP00000409172:K244E;ENSP00000443508:K67E	ENSP00000323148:K280E	K	+	1	0	ZKSCAN1	99468902	0.001000	0.12720	0.992000	0.48379	0.111000	0.19643	1.325000	0.33724	2.367000	0.80283	0.528000	0.53228	AAG	ZKSCAN1	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000106261		0.443	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	-	0	67	0	A	NM_003439		99630966	1	tier1	-	no_errors	ENST00000324306	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.647	G	G	99630966	A	G	99630966	3	3	82	1	0	0	0	0	1	0	0	0	17734	15	1	4	856	4	ZKSCAN1	7	99630966	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	549216	99630966	59507697	132	21703											
ZAN	7455	genome.wustl.edu	37	chr7	100377345	100377345	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagccaggggctcaagcccCcactctggagaaacagcagc	12	3	12	14	0	2	2	1	0	1	2	2	3	2	2	3	3	5	2	3	3	2	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:100377345C>T	ENST00000348028.3	+	0	6759				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTCAAGCCCCCACTCTGGAG	0.627																																																	0													11	13	12					7																	100377345		1893	4078	5971			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377345C>T			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.P2198S	ENST00000348028.3	37	c.6592		7	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244336	0.79912	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.75589	-0.95;-0.95;-0.95	4.08	3.2	0.36748	Uncharacterised domain, cysteine-rich (2);	0.221864	0.23454	N	0.048005	T	0.64843	0.2635	.	.	.	0.35981	D	0.836044	P;P	0.36330	0.492;0.548	B;B	0.42771	0.276;0.397	T	0.63761	-0.6564	9	0.18710	T	0.47	.	8.0311	0.30465	0.0:0.8894:0.0:0.1106	.	2198;2199	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	2198	ENSP00000445943:P2198S;ENSP00000445091:P2198S;ENSP00000444427:P2198S	ENSP00000445091:P2198S	P	+	1	0	ZAN	100215281	0.000000	0.05858	0.011000	0.14972	0.980000	0.70556	0.448000	0.21726	1.321000	0.45227	0.558000	0.71614	CCA	ZAN	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000146839		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	75	0	C	NM_003386		100377345	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	17.91	55	12	SNP	0.034	T	T	100377345	C	T	100377345	1	4	82	0	1	0	0	0	0	0	0	0	17562	623	22	3		3	ZAN	7	100377345	RNA	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	746379	100377345	58761318	133	21704											
SLC13A1	6561	genome.wustl.edu	37	chr7	122787321	122787321	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacgtaagtttacgtgtcAcgtggcccttctttgttcga	8	14	9	10	4	2	0	1	0	1	0	3	1	2	0	1	1	2	3	1	1	3	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:122787321A>T	ENST00000194130.2	-	7	743	c.704T>A	c.(703-705)gTg>gAg	p.V235E	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	235					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TTTACGTGTCACGTGGCCCTT	0.418																																																	0													235	180	198					7																	122787321		2203	4300	6503	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.704T>A	7.37:g.122787321A>T	ENSP00000194130:p.Val235Glu		Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.V235E	ENST00000194130.2	37	c.704	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	A	13.46	2.243481	0.39697	.	.	ENSG00000081800	ENST00000194130	T	0.03468	3.92	5.0	3.76	0.43208	.	0.219788	0.52532	D	0.000078	T	0.01627	0.0052	N	0.03608	-0.345	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.23852	0.049;0.049	T	0.41088	-0.9528	10	0.02654	T	1	-27.0989	8.857	0.35234	0.8324:0.0:0.0:0.1676	.	235;235	A4D0X1;Q9BZW2	.;S13A1_HUMAN	E	235	ENSP00000194130:V235E	ENSP00000194130:V235E	V	-	2	0	SLC13A1	122574557	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	3.820000	0.55693	1.895000	0.54865	0.460000	0.39030	GTG	SLC13A1	-	pfam_Na/sul_symport	ENSG00000081800		0.418	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	-	0	54	0	A	NM_022444		122787321	-1	tier1	-	no_errors	ENST00000194130	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	122787321	A	T	122787321	3	4	82	1	0	0	0	0	1	0	0	0	14436	159	6	5	1119	5	SLC13A1	7	122787321	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	22409976	122787321	36351342	134	21705											
TNPO3	23534	genome.wustl.edu	37	chr7	128645134	128645134	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttactgtccaaaactcccAagttaaaccaacttcccaaa	16	9	3	13	0	0	0	0	0	0	0	3	0	3	0	4	0	4	2	4	0	8	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:128645134A>T	ENST00000265388.5	-	5	775	c.632T>A	c.(631-633)tTg>tAg	p.L211*	TNPO3_ENST00000482320.1_Nonsense_Mutation_p.L145*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.L211*|TNPO3_ENST00000393245.1_Nonsense_Mutation_p.L211*|TNPO3_ENST00000471234.1_Nonsense_Mutation_p.L211*			Q9Y5L0	TNPO3_HUMAN	transportin 3	211					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAAAACTCCCAAGTTAAACCA	0.348																																					Pancreas(147;583 2585 39696 52331)												0													103	98	100					7																	128645134		2203	4300	6503	SO:0001587	stop_gained	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.632T>A	7.37:g.128645134A>T	ENSP00000265388:p.Leu211*		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Nonsense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.L211*	ENST00000265388.5	37	c.632	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	A	41	8.607986	0.98884	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	14.14	0.65313	1.0:0.0:0.0:0.0	.	.	.	.	X	211;211;145;211;211	.	ENSP00000265388:L211X	L	-	2	0	TNPO3	128432370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.980000	0.93460	2.216000	0.71823	0.528000	0.53228	TTG	TNPO3	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000064419		0.348	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	-	0	59	0	A	NM_012470		128645134	-1	tier1	-	no_errors	ENST00000393245	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T	T	128645134	A	T	128645134	4	4	82	1	0	0	0	0	0	1	0	0	16384	131	5	5	2211	5	TNPO3	7	128645134	Nonsense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	5857813	128645134	30493529	135	21706											
AHCYL2	23382	genome.wustl.edu	37	chr7	129040146	129040146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaggatttcctgtttttgCctggaagggagagtcagaag	9	11	13	8	0	1	2	1	0	0	2	2	5	2	4	3	3	1	1	3	3	2	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:129040146C>T	ENST00000325006.3	+	6	893	c.839C>T	c.(838-840)gCc>gTc	p.A280V	AHCYL2_ENST00000474594.1_Missense_Mutation_p.A177V|AHCYL2_ENST00000446544.2_Missense_Mutation_p.A279V|AHCYL2_ENST00000446212.1_Missense_Mutation_p.A178V|AHCYL2_ENST00000490911.1_Missense_Mutation_p.A177V|AHCYL2_ENST00000531335.2_Missense_Mutation_p.A199V	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	280					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CCTGTTTTTGCCTGGAAGGGA	0.438																																					Pancreas(160;1736 1964 29875 40941 45605)												0													172	172	172					7																	129040146		2203	4300	6503	SO:0001583	missense	0			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.839C>T	7.37:g.129040146C>T	ENSP00000315931:p.Ala280Val		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.A280V	ENST00000325006.3	37	c.839	CCDS5812.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.309818|5.309818	0.95629|0.95629	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993|ENST00000466924	D;D;D;D;D;D;D|.	0.84442|.	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.69|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.049538|.	0.85682|.	D|.	0.000000|.	D|D	0.90823|0.90823	0.7118|0.7118	H|H	0.98721|0.98721	4.31|4.31	0.58432|0.58432	D|D	0.999997|0.999997	P;D;D;D;D|.	0.65815|.	0.854;0.994;0.995;0.994;0.994|.	P;P;P;P;P|.	0.59948|.	0.538;0.866;0.763;0.866;0.65|.	D|D	0.94568|0.94568	0.7768|0.7768	10|5	0.87932|.	D|.	0|.	-15.4281|-15.4281	17.128|17.128	0.86719|0.86719	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	177;178;280;177;279|.	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2|.	.;.;SAHH3_HUMAN;.;.|.	V|S	280;279;199;177;178;177;178|187	ENSP00000315931:A280V;ENSP00000413639:A279V;ENSP00000431787:A199V;ENSP00000420459:A177V;ENSP00000405267:A178V;ENSP00000420801:A177V;ENSP00000419608:A178V|.	ENSP00000315931:A280V|.	A|P	+|+	2|1	0|0	AHCYL2|AHCYL2	128827382|128827382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	7.450000|7.450000	0.80656|0.80656	2.446000|2.446000	0.82766|0.82766	0.563000|0.563000	0.77884|0.77884	GCC|CCT	AHCYL2	-	pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000158467		0.438	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	-	0	74	0	C			129040146	1	tier1	-	no_errors	ENST00000325006	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	129040146	C	T	129040146	3	4	82	1	0	0	0	0	1	0	0	0	411	739	26	3	983	3	AHCYL2	7	129040146	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	395012	129040146	30098517	136	21707											
SLC13A4	26266	genome.wustl.edu	37	chr7	135376332	135376332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaagcagggcttcttcgctgGaatgaggaagaggaggaagc	13	6	16	6	1	1	2	0	1	1	1	2	6	1	6	0	5	2	3	0	5	4	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:135376332G>C	ENST00000354042.4	-	12	1971	c.1282C>G	c.(1282-1284)Cca>Gca	p.P428A	C7orf73_ENST00000422968.1_3'UTR	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	428					sodium ion transmembrane transport (GO:0035725)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TTCTTCGCTGGAATGAGGAAG	0.478																																																	0													82	76	78					7																	135376332		2203	4300	6503	SO:0001583	missense	0			AF169301	CCDS5840.1	7q33	2013-07-18	2013-07-18		ENSG00000164707	ENSG00000164707		"Solute carriers"	15827	protein-coding gene	gene with protein product	"sulphate transporter 1"	604309	"solute carrier family 13 (sodium/sulphate symporters), member 4"			10535998	Standard	NM_012450		Approved	SUT-1, SUT1	uc003vta.3	Q9UKG4	OTTHUMG00000155539	ENST00000354042.4:c.1282C>G	7.37:g.135376332G>C	ENSP00000297282:p.Pro428Ala		A4D1Q4|Q8N631	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM	p.P428A	ENST00000354042.4	37	c.1282	CCDS5840.1	7	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681087	0.88542	.	.	ENSG00000164707	ENST00000354042	T	0.02787	4.16	5.69	5.69	0.88448	.	0.054085	0.85682	D	0.000000	T	0.25606	0.0623	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.20974	-1.0259	10	0.87932	D	0	-9.6909	17.2983	0.87175	0.0:0.0:1.0:0.0	.	297;428	Q59HF0;Q9UKG4	.;S13A4_HUMAN	A	428	ENSP00000297282:P428A	ENSP00000297282:P428A	P	-	1	0	SLC13A4	135026872	1.000000	0.71417	0.987000	0.45799	0.656000	0.38851	9.582000	0.98214	2.676000	0.91093	0.655000	0.94253	CCA	SLC13A4	-	pfam_Na/sul_symport	ENSG00000164707		0.478	SLC13A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A4	HGNC	protein_coding	OTTHUMT00000340558.1	-	0	56	0	G	NM_012450		135376332	-1	tier1	-	no_errors	ENST00000354042	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	C	C	135376332	G	C	135376332	3	2	82	1	0	0	0	0	1	0	0	0	14439	1174	41	5	618	5	SLC13A4	7	135376332	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	6336186	135376332	23762331	137	21708											
EZH2	2146	genome.wustl.edu	37	chr7	148524336	148524336	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attttatcagaaggaaatttCcgaggtgggcggctttcttt	9	15	11	6	2	2	1	1	0	1	1	3	3	3	2	1	4	0	1	1	4	3	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:148524336C>A	ENST00000460911.1	-	7	736	c.648G>T	c.(646-648)cgG>cgT	p.R216R	EZH2_ENST00000536783.1_Silent_p.R107R|EZH2_ENST00000483967.1_Silent_p.R207R|EZH2_ENST00000476773.1_Silent_p.R207R|EZH2_ENST00000541220.1_Silent_p.R207R|EZH2_ENST00000350995.2_Silent_p.R177R|EZH2_ENST00000478654.1_Silent_p.R207R|EZH2_ENST00000320356.2_Silent_p.R216R			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	216	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			AAGGAAATTTCCGAGGTGGGC	0.338			Mis		DLBCL																																			Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0													105	112	110					7																	148524336		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.648G>T	7.37:g.148524336C>A			B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.R216	ENST00000460911.1	37	c.648	CCDS56516.1	7																																																																																			EZH2	-	smart_SANT/Myb	ENSG00000106462		0.338	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	HGNC	protein_coding	OTTHUMT00000352744.1	-	0	60	0	C	NM_004456		148524336	-1	tier1	-	no_errors	ENST00000320356	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	A	A	148524336	C	A	148524336	2	1	82	1	0	0	0	0	0	0	0	1	5350	842	30	3		3	EZH2	7	148524336	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	13148004	148524336	10614327	138	21709											
CHPF2	54480	genome.wustl.edu	37	chr7	150932498	150932498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagacctgtacttaggccggGcagaggagttcattggcgca	10	8	14	9	2	1	2	1	0	0	2	1	3	1	3	2	4	1	4	2	4	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr7:150932498G>A	ENST00000035307.2	+	2	2141	c.628G>A	c.(628-630)Gca>Aca	p.A210T	CHPF2_ENST00000495645.1_Missense_Mutation_p.A202T	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	210					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.A210T(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTTAGGCCGGGCAGAGGAGTT	0.602																																																	1	Substitution - Missense(1)	skin(1)											92	91	91					7																	150932498		2203	4300	6503	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.628G>A	7.37:g.150932498G>A	ENSP00000035307:p.Ala210Thr		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.A210T	ENST00000035307.2	37	c.628	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406730	0.62399	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.26660	1.72;1.73	5.52	3.7	0.42460	.	0.047280	0.85682	D	0.000000	T	0.11623	0.0283	N	0.14661	0.345	0.58432	D	0.999993	P;B	0.41597	0.756;0.137	B;B	0.36134	0.218;0.068	T	0.14337	-1.0476	9	.	.	.	-2.3365	5.9655	0.19322	0.0725:0.1349:0.6528:0.1398	.	210;202	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	T	202;210;210	ENSP00000418914:A202T;ENSP00000035307:A210T	.	A	+	1	0	CHPF2	150563431	1.000000	0.71417	0.977000	0.42913	0.991000	0.79684	2.707000	0.47143	0.685000	0.31468	0.655000	0.94253	GCA	CHPF2	-	pfam_Fringe-like	ENSG00000033100		0.602	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2		0	38	0	G	NM_019015		150932498	1			no_errors	ENST00000035307	ensembl	human	known	74_37	missense	5.41	34	2	SNP	0.999	A	A	150932498	G	A	150932498	3	1	82	1	0	0	0	0	1	0	0	0	3376	1203	42	3	634	3	CHPF2	7	150932498	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2408162	150932498	8206165	139	21710											
ARHGEF10	9639	genome.wustl.edu	37	chr8	1851472	1851472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgaagaacacctccaaagGccaccccgacaggctgcctc	11	4	9	17	1	0	2	0	1	0	1	2	3	1	2	6	2	2	2	6	2	3	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:1851472G>A	ENST00000398564.1	+	16	1751	c.1751G>A	c.(1750-1752)gGc>gAc	p.G584D	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.G583D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	584	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G584D(1)|p.G336D(1)|p.G559D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACCTCCAAAGGCCACCCCGAC	0.537																																																	3	Substitution - Missense(3)	prostate(3)											126	125	125					8																	1851472		2203	4300	6503	SO:0001583	missense	0			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"Rho guanine nucleotide exchange factors"	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1751G>A	8.37:g.1851472G>A	ENSP00000381571:p.Gly584Asp		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.G584D	ENST00000398564.1	37	c.1751		8	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293141	0.60086	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.06	5.06	0.68205	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	N	0.25647	0.755	0.80722	D	1	D;P;D;D	0.89917	1.0;0.858;1.0;1.0	D;P;D;D	0.97110	1.0;0.627;1.0;0.998	T	0.70132	-0.4956	10	0.56958	D	0.05	-34.2797	18.4361	0.90646	0.0:0.0:1.0:0.0	.	584;545;521;559	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	D	559;521;583;545;584;584;232	ENSP00000340297:G559D;ENSP00000427909:G521D;ENSP00000431012:G583D;ENSP00000381568:G545D;ENSP00000381571:G584D;ENSP00000262112:G584D;ENSP00000427768:G232D	ENSP00000262112:G584D	G	+	2	0	ARHGEF10	1838879	1.000000	0.71417	0.516000	0.27786	0.029000	0.11900	8.989000	0.93506	2.344000	0.79699	0.511000	0.50034	GGC	ARHGEF10	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000104728		0.537	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding			0	27	0	G			1851472	1			no_errors	ENST00000398564	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	1851472	G	A	1851472	3	1	82	1	0	0	0	0	1	0	0	0	894	1203	42	3	1734	3	ARHGEF10	8	1851472	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		1851472	144512550	140	21711											
ADAM28	10863	genome.wustl.edu	37	chr8	24199233	24199233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacacaagtcaagaaatagGcatggtggccaatggaacta	17	6	11	7	0	1	2	1	0	0	2	1	3	1	3	1	4	1	1	1	4	7	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:24199233G>T	ENST00000265769.4	+	16	1903	c.1793G>T	c.(1792-1794)gGc>gTc	p.G598V	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.G345V	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	598	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAAGAAATAGGCATGGTGGCC	0.403																																					NSCLC(193;488 2149 22258 34798 40734)												0													188	180	182					8																	24199233		2203	4300	6503	SO:0001583	missense	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"ADAM metallopeptidase domain containing"	206	protein-coding gene	gene with protein product		606188	"a disintegrin and metalloproteinase domain 28"				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1793G>T	8.37:g.24199233G>T	ENSP00000265769:p.Gly598Val		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G598V	ENST00000265769.4	37	c.1793	CCDS34865.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.302086|2.302086	0.40694|0.40694	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649|ENST00000521629;ENST00000518326	T;T|.	0.18016|.	2.24;2.24|.	5.84|5.84	0.255|0.255	0.15561|0.15561	ADAM, cysteine-rich (1);|.	.|.	.|.	.|.	.|.	T|T	0.73313|0.73313	0.3571|0.3571	M|M	0.92784|0.92784	3.345|3.345	0.54753|0.54753	D|D	0.999989|0.999989	D;D|.	0.62365|.	0.991;0.991|.	P;P|.	0.62740|.	0.906;0.906|.	T|T	0.70586|0.70586	-0.4831|-0.4831	9|5	0.87932|.	D|.	0|.	.|.	1.2949|1.2949	0.02067|0.02067	0.4453:0.1601:0.249:0.1456|0.4453:0.1601:0.249:0.1456	.|.	598;598|.	B2RMV5;Q9UKQ2|.	.;ADA28_HUMAN|.	V|S	598;345|230;23	ENSP00000265769:G598V;ENSP00000380770:G345V|.	ENSP00000265769:G598V|.	G|R	+|+	2|3	0|2	ADAM28|ADAM28	24255178|24255178	0.988000|0.988000	0.35896|0.35896	0.958000|0.958000	0.39756|0.39756	0.538000|0.538000	0.34931|0.34931	0.591000|0.591000	0.23969|0.23969	0.309000|0.309000	0.22966|0.22966	-0.136000|-0.136000	0.14681|0.14681	GGC|AGG	ADAM28	-	smart_ADAM_Cys-rich	ENSG00000042980		0.403	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	-	0	72	0	G	NM_021778		24199233	1	tier1	-	no_errors	ENST00000265769	ensembl	human	known	74_37	missense	25.64	58	20	SNP	0.025	T	T	24199233	G	T	24199233	3	4	82	1	0	0	0	0	1	0	0	0	246	1203	42	3	1911	3	ADAM28	8	24199233	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	22347761	24199233	122164789	141	21712											
UNC5D	137970	genome.wustl.edu	37	chr8	35631964	35631964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaaggcaaggactggCagatgttagcacagaaaaac	17	5	11	8	0	0	2	0	0	0	2	0	3	0	3	1	3	3	4	1	3	5	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:35631964C>A	ENST00000404895.2	+	16	2954	c.2626C>A	c.(2626-2628)Cag>Aag	p.Q876K	UNC5D_ENST00000453357.2_Missense_Mutation_p.Q871K|UNC5D_ENST00000287272.2_Missense_Mutation_p.Q807K|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q809K|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q452K|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q881K	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	876	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAAGGACTGGCAGATGTTAGC	0.468																																																	0													114	108	110					8																	35631964		2203	4300	6503	SO:0001583	missense	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"Immunoglobulin superfamily / I-set domain containing"	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2626C>A	8.37:g.35631964C>A	ENSP00000385143:p.Gln876Lys		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.Q876K	ENST00000404895.2	37	c.2626	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701082	0.88924	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.95	5.06	0.68205	Death (2);DEATH-like (2);	0.104627	0.64402	D	0.000002	D	0.87462	0.6183	L	0.56769	1.78	0.58432	D	0.999998	D;P;P	0.57571	0.98;0.792;0.826	P;B;P	0.56474	0.799;0.419;0.554	D	0.88719	0.3228	10	0.72032	D	0.01	-18.0667	16.4549	0.84009	0.1322:0.8678:0.0:0.0	.	452;871;876	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	K	876;809;807;881;871;452	ENSP00000385143:Q876K;ENSP00000392739:Q809K;ENSP00000287272:Q807K;ENSP00000412652:Q881K;ENSP00000394303:Q871K;ENSP00000397211:Q452K	ENSP00000287272:Q807K	Q	+	1	0	UNC5D	35751506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.916000	0.69981	1.486000	0.48398	0.650000	0.86243	CAG	UNC5D	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain	ENSG00000156687		0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0	61	0	C			35631964	1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	55.56	20	25	SNP	1.000	A	A	35631964	C	A	35631964	3	1	82	1	0	0	0	0	1	0	0	0	17044	711	25	3	2688	3	UNC5D	8	35631964	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	11432731	35631964	110732058	142	21713											
PREX2	80243	genome.wustl.edu	37	chr8	68968135	68968135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgagaaactttataaaatGatgtgcagacaaggaaatct	17	10	10	4	0	1	3	0	2	1	2	1	5	1	4	0	2	2	1	0	2	6	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:68968135G>A	ENST00000288368.4	+	10	1441	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	388					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTATAAAATGATGTGCAGAC	0.398																																																	0													103	113	109					8																	68968135		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1164G>A	8.37:g.68968135G>A	ENSP00000288368:p.Met388Ile		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M388I	ENST00000288368.4	37	c.1164	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213267	0.58452	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.14022	2.54	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.113461	0.64402	D	0.000007	T	0.19805	0.0476	L	0.36672	1.1	0.48341	D	0.999633	B;B;B	0.34241	0.202;0.444;0.363	B;B;B	0.42030	0.281;0.103;0.373	T	0.01259	-1.1403	10	0.48119	T	0.1	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	388;388;388	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	I	388	ENSP00000288368:M388I	ENSP00000288368:M388I	M	+	3	0	PREX2	69130689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.094000	0.64523	2.840000	0.97914	0.655000	0.94253	ATG	PREX2	-	NULL	ENSG00000046889		0.398	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	58	0	G	NM_025170		68968135	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	19.72	57	14	SNP	1.000	A	A	68968135	G	A	68968135	3	1	82	1	0	0	0	0	1	0	0	0	12519	1290	45	3	1202	3	PREX2	8	68968135	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	33336171	68968135	77395887	143	21714											
PREX2	80243	genome.wustl.edu	37	chr8	69017554	69017554	+	Intron	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcactgcattcctgaggaccTtccttctcaagaaatgctct	9	12	7	13	0	2	2	1	1	2	1	5	3	4	3	3	1	2	3	3	1	2	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:69017554T>A	ENST00000288368.4	+	24	2992				PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCTGAGGACCTTCCTTCTCAA	0.507																																																	0													99	82	88					8																	69017554		2203	4300	6503	SO:0001627	intron_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2716-2790T>A	8.37:g.69017554T>A			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	RNA	SNP	-	NULL	ENST00000288368.4	37	NULL	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	5.682	0.310491	0.10733	.	.	ENSG00000046889	ENST00000354677	.	.	.	1.81	1.81	0.25067	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.19300	N	0.999976	P	0.43392	0.805	B	0.24394	0.053	T	0.17501	-1.0367	7	0.87932	D	0	.	5.6759	0.17747	0.0:0.0:0.0:1.0	.	966	Q70Z35-3	.	H	966	.	ENSP00000346707:L966H	L	+	2	0	PREX2	69180108	0.003000	0.15002	0.008000	0.14137	0.023000	0.10783	1.819000	0.39022	1.088000	0.41272	0.377000	0.23210	CTT	PREX2	-	-	ENSG00000046889		0.507	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	36	0	T	NM_025170		69017554	1	tier1	-	no_errors	ENST00000529398	ensembl	human	known	74_37	rna	17.24	48	10	SNP	0.011	A	A	69017554	T	A	69017554	1	1	82	0	1	0	0	0	0	0	0	0	12519	1609	56	5		5	PREX2	8	69017554	Intron	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	49419	69017554	77346468	144	21715											
NCOA2	10499	genome.wustl.edu	37	chr8	71053566	71053566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcacaggtgactctcaCagccgaactctgcggtgccc	9	6	11	15	2	2	1	1	1	2	0	3	2	2	1	2	2	6	2	2	2	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:71053566C>G	ENST00000452400.2	-	14	3062	c.2881G>C	c.(2881-2883)Gtg>Ctg	p.V961L	NCOA2_ENST00000267974.4_Missense_Mutation_p.V49L	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	961					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGACTCTCACAGCCGAACTC	0.557			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													61	64	63					8																	71053566		2068	4224	6292	SO:0001583	missense	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2881G>C	8.37:g.71053566C>G	ENSP00000399968:p.Val961Leu		Q14CD2	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.V961L	ENST00000452400.2	37	c.2881	CCDS47872.1	8	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152993	0.38021	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	T;T	0.06218	4.77;3.33	5.36	4.48	0.54585	.	0.400091	0.27181	N	0.020545	T	0.19087	0.0458	M	0.69823	2.125	0.40328	D	0.978891	D;P	0.63046	0.992;0.555	P;B	0.60012	0.867;0.171	T	0.04678	-1.0934	10	0.25106	T	0.35	.	14.3767	0.66884	0.0:0.9283:0.0:0.0717	.	49;961	F8WAJ2;Q15596	.;NCOA2_HUMAN	L	961;49	ENSP00000399968:V961L;ENSP00000267974:V49L	ENSP00000267974:V49L	V	-	1	0	NCOA2	71216120	0.998000	0.40836	0.999000	0.59377	0.868000	0.49771	4.050000	0.57404	1.376000	0.46267	-0.145000	0.13849	GTG	NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.557	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	-	0	45	0	C			71053566	-1	tier1	-	no_errors	ENST00000452400	ensembl	human	known	74_37	missense	47.17	28	25	SNP	1.000	G	G	71053566	C	G	71053566	3	3	82	1	0	0	0	0	1	0	0	0	10268	478	17	5	1553	5	NCOA2	8	71053566	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2036012	71053566	75310456	145	21716											
DECR1	1666	genome.wustl.edu	37	chr8	91063956	91063956	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcaggggaattcaacGacctgagaaaggtaatgctt	13	12	10	6	1	2	1	2	1	0	1	2	4	2	2	1	3	2	2	1	3	5	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:91063956G>T	ENST00000220764.2	+	9	1025	c.937G>T	c.(937-939)Gac>Tac	p.D313Y	DECR1_ENST00000522161.1_Missense_Mutation_p.D304Y	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	313					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GGAATTCAACGACCTGAGAAA	0.313																																																	0													87	91	89					8																	91063956		2203	4300	6503	SO:0001583	missense	0			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.937G>T	8.37:g.91063956G>T	ENSP00000220764:p.Asp313Tyr		B7Z6B8|Q2M304|Q93085	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.D313Y	ENST00000220764.2	37	c.937	CCDS6250.1	8	.	.	.	.	.	.	.	.	.	.	G	0	-2.607565	0.00121	.	.	ENSG00000104325	ENST00000220764;ENST00000522161	D;D	0.84800	-1.76;-1.9	5.88	0.0319	0.14173	.	0.664559	0.16799	N	0.199043	T	0.66208	0.2766	L	0.29908	0.895	0.20074	N	0.999935	B;B	0.22211	0.066;0.013	B;B	0.22152	0.038;0.008	T	0.51196	-0.8736	10	0.02654	T	1	.	1.1638	0.01811	0.4486:0.2125:0.124:0.2149	.	304;313	B7Z6B8;Q16698	.;DECR_HUMAN	Y	313;304	ENSP00000220764:D313Y;ENSP00000429779:D304Y	ENSP00000220764:D313Y	D	+	1	0	DECR1	91133132	0.048000	0.20356	0.115000	0.21578	0.014000	0.08584	0.318000	0.19504	0.100000	0.17581	-0.290000	0.09829	GAC	DECR1	-	NULL	ENSG00000104325		0.313	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DECR1	HGNC	protein_coding	OTTHUMT00000375822.1	-	0	73	0	G			91063956	1	tier1	-	no_errors	ENST00000220764	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.031	T	T	91063956	G	T	91063956	3	4	82	1	0	0	0	0	1	0	0	0	4391	1058	37	2	971	2	DECR1	8	91063956	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	20010390	91063956	55300066	146	21717											
GDF6	392255	genome.wustl.edu	37	chr8	97157145	97157145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttgccatggcgactggcGaaggccgtgcgccgccgccg	4	5	16	16	8	0	0	0	0	0	0	0	2	0	0	5	3	2	1	5	3	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:97157145G>A	ENST00000287020.5	-	2	1113	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	338					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGCGACTGGCGAAGGCCGTgc	0.746																																																	0													23	19	20					8																	97157145		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1014C>T	8.37:g.97157145G>A			Q6PI58	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.F338	ENST00000287020.5	37	c.1014	CCDS34926.1	8																																																																																			GDF6	-	NULL	ENSG00000156466		0.746	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	-	0	42	0	G	NM_001001557		97157145	-1	tier1	-	no_errors	ENST00000287020	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.896	A	A	97157145	G	A	97157145	2	1	82	1	0	0	0	0	0	0	0	1	6343	1049	37	1		1	GDF6	8	97157145	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	6093189	97157145	49206877	147	21718											
VPS13B	157680	genome.wustl.edu	37	chr8	100568859	100568860	+	Frame_Shift_Ins	INS	-	-	T																															gaattctcaaaatccagcccINSttgagtggaatatggccagc																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:100568859_100568860insT	ENST00000358544.2	+	31	5113_5114	c.5002_5003insT	c.(5002-5004)cttfs	p.L1668fs	VPS13B_ENST00000357162.2_Frame_Shift_Ins_p.L1643fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1668					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATCCAGCCCTTGAGTGGAAT	0.411																																					Colon(161;2205 2542 7338 31318)												0																																										SO:0001589	frameshift_variant	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5004dupT	8.37:g.100568861_100568861dupT	ENSP00000351346:p.Leu1668fs		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Ins	INS	pfam_Autophagy-rel_C	p.E1669fs	ENST00000358544.2	37	c.5002_5003	CCDS6280.1	8																																																																																			VPS13B	-	NULL	ENSG00000132549		0.411	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1		0	34	0	-	NM_184042		100568860	1	tier1		no_errors	ENST00000358544	ensembl	human	known	74_37	frame_shift_ins	16.67	10	2	INS	0.994:0.998	T	T	100568860	-	T	100568859	7	5	82	1	0	1	1	0	0	0	0	0	17239	681	24	0	5314	0	VPS13B	8	100568859	Frame_Shift_Ins	INS	-	TCGA-L5-A8NH-01A-11D-A37C-09	3411714	100568859	45795163	148	21719											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110477200	110477200	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaatagtcggccatctTgatgaactgggaatggggtc	11	9	13	8	1	1	2	0	2	1	0	3	3	1	3	2	4	1	0	2	4	5	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:110477200T>C	ENST00000378402.5	+	49	8243	c.8139T>C	c.(8137-8139)ctT>ctC	p.L2713L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2713					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGGCCATCTTGATGAACTGG	0.468										HNSCC(38;0.096)																																							0													172	171	171					8																	110477200		1893	4113	6006	SO:0001819	synonymous_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.8139T>C	8.37:g.110477200T>C			Q567P2|Q9UF27	Silent	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.L2713	ENST00000378402.5	37	c.8139	CCDS47911.1	8																																																																																			PKHD1L1	-	NULL	ENSG00000205038		0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1		0	70	0	T	NM_177531		110477200	1			no_errors	ENST00000378402	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.997	C	C	110477200	T	C	110477200	2	2	82	1	0	0	0	0	0	0	0	1	12011	1799	63	4		4	PKHD1L1	8	110477200	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	9908341	110477200	35886822	149	21720											
EIF3H	8667	genome.wustl.edu	37	chr8	117658786	117658786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaggtcctcctcagggagCgggggttctcctcggctctg	4	9	15	13	2	3	0	1	0	2	0	7	2	5	1	3	5	1	2	3	5	0	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:117658786C>T	ENST00000276682.4	-	9	1693	c.927G>A	c.(925-927)ccG>ccA	p.P309P	EIF3H_ENST00000521861.1_Silent_p.P295P					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CCTCAGGGAGCGGGGGTTCTC	0.527																																																	0													157	166	163					8																	117658786		2203	4300	6503	SO:0001819	synonymous_variant	0			U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.927G>A	8.37:g.117658786C>T				Silent	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.P295	ENST00000276682.4	37	c.885		8																																																																																			EIF3H	-	NULL	ENSG00000147677		0.527	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	EIF3H	HGNC	protein_coding	OTTHUMT00000380913.1	-	0	79	0	C	NM_003756		117658786	-1	tier1	-	no_errors	ENST00000521861	ensembl	human	known	74_37	silent	35.85	34	19	SNP	0.030	T	T	117658786	C	T	117658786	2	4	82	1	0	0	0	0	0	0	0	1	5034	755	27	1		1	EIF3H	8	117658786	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	7181586	117658786	28705236	150	21721											
SLA	6503	genome.wustl.edu	37	chr8	134052331	134052331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcagccgtgctttgtgTcaggcagggcgtggtgagca	5	9	19	8	2	1	1	1	1	0	0	1	1	1	1	1	5	3	4	1	5	0	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:134052331T>C	ENST00000338087.5	-	8	1348	c.529A>G	c.(529-531)Aca>Gca	p.T177A	SLA_ENST00000517648.1_Missense_Mutation_p.T150A|TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.T69A|SLA_ENST00000427060.2_Missense_Mutation_p.T217A|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.T194A|TG_ENST00000542445.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	177					positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			GTGCTTTGTGTCAGGCAGGGC	0.632																																																	0													69	42	51					8																	134052331		2191	4278	6469	SO:0001583	missense	0				CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"SH2 domain containing"	10902	protein-coding gene	gene with protein product		601099	"Src-like-adapter"			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.529A>G	8.37:g.134052331T>C	ENSP00000337548:p.Thr177Ala		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.T217A	ENST00000338087.5	37	c.649	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	T	10.67	1.416521	0.25552	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;2.41	5.77	3.43	0.39272	SH2 motif (1);	0.143627	0.64402	N	0.000005	T	0.18383	0.0441	L	0.31120	0.905	0.37592	D	0.920222	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.11792	-1.0573	10	0.09843	T	0.71	-8.4292	8.8199	0.35018	0.0:0.1452:0.0:0.8548	.	150;177;177;177	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	A	177;217;194;69;150	ENSP00000337548:T177A;ENSP00000394049:T217A;ENSP00000378759:T194A;ENSP00000427928:T69A;ENSP00000428559:T150A	ENSP00000337548:T177A	T	-	1	0	SLA	134121513	1.000000	0.71417	0.962000	0.40283	0.813000	0.45954	1.247000	0.32815	0.476000	0.27440	0.528000	0.53228	ACA	SLA	-	NULL	ENSG00000155926		0.632	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	HGNC	protein_coding	OTTHUMT00000378771.1	-	0	72	0	T			134052331	-1	tier1	-	no_errors	ENST00000427060	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	C	C	134052331	T	C	134052331	3	2	82	1	0	0	0	0	1	0	0	0	14408	1667	58	4	309	4	SLA	8	134052331	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	16393545	134052331	12311691	151	21722											
WISP1	8840	genome.wustl.edu	37	chr8	134233036	134233036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagtgggtatgtgaggacGacgccaagaggccacgcaag	12	4	16	9	3	0	2	0	1	0	1	0	4	0	3	2	3	1	3	2	3	3	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:134233036G>A	ENST00000250160.6	+	3	668	c.562G>A	c.(562-564)Gac>Aac	p.D188N	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	188					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			ATGTGAGGACGACGCCAAGAG	0.682																																																	0													36	34	35					8																	134233036		2203	4300	6503	SO:0001583	missense	0			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.562G>A	8.37:g.134233036G>A	ENSP00000250160:p.Asp188Asn		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D188N	ENST00000250160.6	37	c.562	CCDS6371.1	8	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816913	0.32145	.	.	ENSG00000104415	ENST00000250160	T	0.78481	-1.18	4.46	3.57	0.40892	.	0.803616	0.11878	N	0.520742	T	0.62974	0.2472	N	0.08118	0	0.80722	D	1	D	0.54397	0.966	P	0.44696	0.458	T	0.56980	-0.7889	10	0.24483	T	0.36	-23.6415	13.7492	0.62897	0.0:0.1555:0.8445:0.0	.	188	O95388	WISP1_HUMAN	N	188	ENSP00000250160:D188N	ENSP00000250160:D188N	D	+	1	0	WISP1	134302218	1.000000	0.71417	0.003000	0.11579	0.403000	0.30841	2.483000	0.45233	0.972000	0.38314	0.557000	0.71058	GAC	WISP1	-	pirsf_IGFBP_CNN	ENSG00000104415		0.682	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP1	HGNC	protein_coding	OTTHUMT00000378794.2	-	0	43	0	G	NM_003882		134233036	1	tier1	-	no_errors	ENST00000250160	ensembl	human	known	74_37	missense	75.00	24	72	SNP	0.776	A	A	134233036	G	A	134233036	3	1	82	1	0	0	0	0	1	0	0	0	17421	1058	37	1	572	1	WISP1	8	134233036	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	180705	134233036	12130986	152	21723											
NFKBIL2	4796	genome.wustl.edu	37	chr8	145661646	145661646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcctggccatggctggtgCcgcctgccctggggagaccc	4	6	16	15	1	0	1	0	0	0	1	0	2	0	1	6	6	2	1	6	6	0	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr8:145661646C>T	ENST00000409379.3	-	17	2199	c.2170G>A	c.(2170-2172)Gca>Aca	p.A724T	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	724					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ATGGCTGGTGCCGCCTGCCCT	0.682																																																	0													11	14	13					8																	145661646		2110	4160	6270	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2170G>A	8.37:g.145661646C>T	ENSP00000386239:p.Ala724Thr		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A724T	ENST00000409379.3	37	c.2170	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	9.268	1.045054	0.19748	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.44482	0.92	3.68	2.8	0.32819	.	1.699270	0.03223	N	0.177867	T	0.29749	0.0743	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.18461	-1.0336	10	0.13853	T	0.58	-2.1729	7.035	0.24989	0.0:0.8708:0.0:0.1291	.	724	Q96HA7	TONSL_HUMAN	T	724;723	ENSP00000386239:A724T	ENSP00000386239:A724T	A	-	1	0	TONSL	145632454	0.013000	0.17824	0.003000	0.11579	0.180000	0.23129	1.746000	0.38288	0.866000	0.35629	0.462000	0.41574	GCA	TONSL	-	NULL	ENSG00000160949		0.682	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	-	0	70	0	C	NM_013432		145661646	-1	tier1	-	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.039	T	T	145661646	C	T	145661646	3	4	82	1	0	0	0	0	1	0	0	0	10421	739	26	3	2006	3	NFKBIL2	8	145661646	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	11428610	145661646	702376	153	21724											
PLIN2	123	genome.wustl.edu	37	chr9	19123637	19123637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggcataggtattggCaactgcaactagaatcacaa	15	9	8	9	0	1	1	1	0	0	1	1	1	1	1	0	3	4	4	0	3	8	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:19123637C>T	ENST00000276914.2	-	4	414	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	PLIN2_ENST00000380465.3_Missense_Mutation_p.A79T|PLIN2_ENST00000411567.1_Missense_Mutation_p.A79T|PLIN2_ENST00000380464.3_Missense_Mutation_p.A79T	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	79					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TAGGTATTGGCAACTGCAACT	0.408																																																	0													101	84	90					9																	19123637		2203	4300	6503	SO:0001583	missense	0			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"Perilipins"	248	protein-coding gene	gene with protein product	"adipophilin"	103195	"adipose differentiation-related protein"	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.235G>A	9.37:g.19123637C>T	ENSP00000276914:p.Ala79Thr		Q9BSC3	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.A79T	ENST00000276914.2	37	c.235	CCDS6490.1	9	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734784	0.89482	.	.	ENSG00000147872	ENST00000411567;ENST00000276914;ENST00000434144;ENST00000380465;ENST00000380464	T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15	5.94	5.94	0.96194	.	0.074770	0.51477	U	0.000087	T	0.39064	0.1064	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.30416	-0.9979	10	0.72032	D	0.01	.	20.3593	0.98849	0.0:1.0:0.0:0.0	.	79;79	E9PG83;Q99541	.;PLIN2_HUMAN	T	79	ENSP00000415270:A79T;ENSP00000276914:A79T;ENSP00000403421:A79T;ENSP00000369832:A79T;ENSP00000369831:A79T	ENSP00000276914:A79T	A	-	1	0	PLIN2	19113637	1.000000	0.71417	0.999000	0.59377	0.504000	0.33889	7.188000	0.77739	2.807000	0.96579	0.591000	0.81541	GCC	PLIN2	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000147872		0.408	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1		0	51	0	C	NM_001122		19123637	-1			no_errors	ENST00000276914	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	19123637	C	T	19123637	3	4	82	1	0	0	0	0	1	0	0	0	12129	710	25	3	1098	3	PLIN2	9	19123637	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		19123637	122089794	154	21725											
AQP3	360	genome.wustl.edu	37	chr9	33442476	33442476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgttgtaggggtcaacaAtggccagcacacacacgata	12	8	12	9	1	1	0	1	0	0	0	1	1	1	0	1	4	2	4	1	4	4	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:33442476A>G	ENST00000297991.4	-	5	613	c.533T>C	c.(532-534)aTt>aCt	p.I178T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	178					excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGGTCAACAATGGCCAGCAC	0.622																																																	0													48	53	51					9																	33442476		2202	4300	6502	SO:0001583	missense	0				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"Ion channels / Aquaporins", "Blood group antigens"	636	protein-coding gene	gene with protein product	"Gill blood group"	600170	"aquaporin 3", "aquaporin 3 (GIL blood group)"			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.533T>C	9.37:g.33442476A>G	ENSP00000297991:p.Ile178Thr		A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP	p.I178T	ENST00000297991.4	37	c.533	CCDS6542.1	9	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639907	0.87760	.	.	ENSG00000165272	ENST00000297991	T	0.11385	2.78	5.95	5.95	0.96441	Aquaporin-like (2);	0.089576	0.85682	D	0.000000	T	0.39358	0.1075	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36383	-0.9750	10	0.87932	D	0	0.3069	16.4069	0.83677	1.0:0.0:0.0:0.0	.	178	Q92482	AQP3_HUMAN	T	178	ENSP00000297991:I178T	ENSP00000297991:I178T	I	-	2	0	AQP3	33432476	1.000000	0.71417	0.954000	0.39281	0.966000	0.64601	9.339000	0.96797	2.272000	0.75746	0.460000	0.39030	ATT	AQP3	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000165272		0.622	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	HGNC	protein_coding	OTTHUMT00000052055.1		0	50	0	A	NM_004925		33442476	-1			no_errors	ENST00000297991	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	G	G	33442476	A	G	33442476	3	3	82	1	0	0	0	0	1	0	0	0	827	101	4	4	353	4	AQP3	9	33442476	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	14318839	33442476	107770955	155	21726											
UNC13B	10497	genome.wustl.edu	37	chr9	35386232	35386232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgaaggcctgtttgaactCcacatatgaatatatcttca	12	14	7	8	0	2	3	1	3	1	0	3	3	3	3	2	1	1	1	2	1	6	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:35386232C>T	ENST00000378495.3	+	23	3011	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	UNC13B_ENST00000378496.4_Missense_Mutation_p.S930F|UNC13B_ENST00000396787.1_Missense_Mutation_p.S942F	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	930					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)	p.S930F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGTTTGAACTCCACATATGAA	0.493																																																	1	Substitution - Missense(1)	urinary_tract(1)											74	75	75					9																	35386232		2203	4300	6503	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2789C>T	9.37:g.35386232C>T	ENSP00000367756:p.Ser930Phe		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.S930F	ENST00000378495.3	37	c.2789	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851359	0.91355	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.85484	-1.86;-1.79;-1.99	4.76	4.76	0.60689	Calcium-dependent secretion activator (1);	0.100301	0.64402	D	0.000001	D	0.92450	0.7603	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69824	0.93;0.966	D	0.93367	0.6732	10	0.87932	D	0	-14.6683	18.3312	0.90270	0.0:1.0:0.0:0.0	.	930;930	F8W8M9;O14795	.;UN13B_HUMAN	F	942;930;930;517	ENSP00000380006:S942F;ENSP00000367756:S930F;ENSP00000367757:S930F	ENSP00000367756:S930F	S	+	2	0	UNC13B	35376232	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.525000	0.81892	2.627000	0.88993	0.655000	0.94253	TCC	UNC13B	-	pfam_Ca-dep_secretion_activator	ENSG00000198722		0.493	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1		0	60	0	C	NM_006377		35386232	1			no_errors	ENST00000378496	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	35386232	C	T	35386232	3	4	82	1	0	0	0	0	1	0	0	0	17034	855	30	3	2879	3	UNC13B	9	35386232	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1943756	35386232	105827199	156	21727											
FAM75A1	642265	genome.wustl.edu	37	chr9	39888176	39888176	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctggaacatgggagagaActcgaaacagctgcccggac	12	6	12	11	2	1	1	0	0	1	1	2	6	1	4	1	3	5	1	1	3	3	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:39888176A>C	ENST00000456183.2	+	4	1192	c.1163A>C	c.(1162-1164)aAc>aCc	p.N388T		NM_001040065.1	NP_001035154.1	Q5RGS2	S31A2_HUMAN	SPATA31 subfamily A, member 2	388					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGGGAGAGAACTCGAAACAG	0.483																																																	0													11	10	11					9																	39888176		1138	2458	3596	SO:0001583	missense	0					9p13.1	2012-10-15	2012-10-12	2012-10-12	ENSG00000204848				32002	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A2"	FAM75A2		20850414	Standard			Approved	OTTHUMG00000013563	uc004abm.3	Q5RGS2	OTTHUMG00000013563	ENST00000456183.2:c.1163A>C	9.37:g.39888176A>C	ENSP00000406957:p.Asn388Thr			Missense_Mutation	SNP	NULL	p.N388T	ENST00000456183.2	37	c.1163	CCDS43809.1	9	.	.	.	.	.	.	.	.	.	.	A	9.172	1.021391	0.19433	.	.	ENSG00000204848	ENST00000456183	T	0.03860	3.78	1.85	1.85	0.25348	.	0.485309	0.19210	N	0.119956	T	0.02380	0.0073	N	0.14661	0.345	0.09310	N	1	P	0.36874	0.572	B	0.29716	0.106	T	0.46456	-0.9190	10	0.41790	T	0.15	-8.2225	5.8428	0.18643	1.0:0.0:0.0:0.0	.	388	Q5RGS2	F75A2_HUMAN	T	388	ENSP00000406957:N388T	ENSP00000406957:N388T	N	+	2	0	FAM75A2	39878176	0.025000	0.19082	0.001000	0.08648	0.221000	0.24807	0.355000	0.20163	1.147000	0.42369	0.102000	0.15555	AAC	SPATA31A2	-	NULL	ENSG00000204848		0.483	SPATA31A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A2	HGNC	protein_coding	OTTHUMT00000037739.1	-	0	218	0	A	NM_001040065		39888176	1	tier1	-	no_errors	ENST00000456183	ensembl	human	known	74_37	missense	27.78	117	45	SNP	0.001	C	C	39888176	A	C	39888176	3	2	82	1	0	0	0	0	1	0	0	0	5641	43	2	4	5237	4	FAM75A1	9	39888176	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	4501944	39888176	101325255	157	21728											
FLJ46321	389763	genome.wustl.edu	37	chr9	84607460	84607460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaactagagcaacacattcGaaggaggctcatccagcgca	15	5	10	11	2	1	1	1	0	0	1	3	4	2	2	1	2	4	3	1	2	4	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:84607460G>A	ENST00000344803.2	+	4	2122	c.2075G>A	c.(2074-2076)cGa>cAa	p.R692Q		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	692					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAACACATTCGAAGGAGGCTC	0.493																																																	0													90	85	87					9																	84607460		1858	4087	5945	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2075G>A	9.37:g.84607460G>A	ENSP00000341988:p.Arg692Gln			Missense_Mutation	SNP	NULL	p.R692Q	ENST00000344803.2	37	c.2075	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380564	0.24944	.	.	ENSG00000214929	ENST00000344803	T	0.06933	3.24	3.51	-7.02	0.01589	.	0.847431	0.09833	N	0.749958	T	0.04003	0.0112	N	0.17764	0.52	0.09310	N	1	B	0.31413	0.322	B	0.30251	0.113	T	0.33650	-0.9860	10	0.20519	T	0.43	-0.6683	7.9563	0.30045	0.6254:0.2293:0.1453:0.0	.	692	Q6ZQQ2	F75D1_HUMAN	Q	692	ENSP00000341988:R692Q	ENSP00000341988:R692Q	R	+	2	0	FAM75D1	83797280	0.224000	0.23674	0.000000	0.03702	0.003000	0.03518	0.179000	0.16840	-2.213000	0.00735	-1.421000	0.01109	CGA	SPATA31D1	-	NULL	ENSG00000214929		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	195	0	G	NM_001001670		84607460	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	9.32	107	11	SNP	0.000	A	A	84607460	G	A	84607460	3	1	82	1	0	0	0	0	1	0	0	0	5954	1058	37	1	2089	1	FLJ46321	9	84607460	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	44719284	84607460	56605971	158	21729											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88959945	88959945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtttaatttccagcctcTgttccaagttctcattgtgt	7	18	6	10	1	2	0	1	0	2	0	5	0	4	0	3	0	2	3	3	0	3	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:88959945T>A	ENST00000375963.3	-	5	1116	c.944A>T	c.(943-945)cAg>cTg	p.Q315L	ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.Q315L|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.Q148L|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.Q315L	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	315					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTCCAGCCTCTGTTCCAAGTT	0.393																																																	0													148	133	138					9																	88959945		2203	4300	6503	SO:0001583	missense	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.944A>T	9.37:g.88959945T>A	ENSP00000365130:p.Gln315Leu		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q315L	ENST00000375963.3	37	c.944	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	T	15.66	2.900049	0.52227	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.12	5.12	0.69794	.	0.380198	0.29273	N	0.012635	T	0.18130	0.0435	N	0.19112	0.55	0.32505	N	0.538271	P;P;P;B	0.43938	0.519;0.708;0.822;0.329	B;B;B;B	0.38264	0.269;0.269;0.194;0.095	T	0.13656	-1.0501	10	0.02654	T	1	0.1783	9.5705	0.39425	0.0:0.0781:0.0:0.9219	.	315;315;315;315	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	L	315;315;315;148;148	ENSP00000365127:Q315L;ENSP00000365128:Q315L;ENSP00000365130:Q315L;ENSP00000365114:Q148L	ENSP00000365114:Q148L	Q	-	2	0	ZCCHC6	88149765	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.084000	0.41625	2.150000	0.67090	0.482000	0.46254	CAG	ZCCHC6	-	NULL	ENSG00000083223		0.393	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	-	0	92	0	T	NM_024617		88959945	-1	tier1	-	no_errors	ENST00000375963	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	88959945	T	A	88959945	3	1	82	1	0	0	0	0	1	0	0	0	17640	1580	55	5	3635	5	ZCCHC6	9	88959945	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	4352485	88959945	52253486	159	21730											
SEMA4D	10507	genome.wustl.edu	37	chr9	92002317	92002317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctgtgctgacaaacatGacatcatagacagtcccatc	13	8	6	14	0	1	3	1	2	0	1	3	3	2	3	3	0	2	1	3	0	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:92002317G>A	ENST00000450295.1	-	12	2090	c.1314C>T	c.(1312-1314)gtC>gtT	p.V438V	SEMA4D_ENST00000422704.2_Silent_p.V438V|SEMA4D_ENST00000420987.1_Silent_p.V438V|SEMA4D_ENST00000343780.4_Silent_p.V438V|SEMA4D_ENST00000356444.2_Silent_p.V438V|SEMA4D_ENST00000339861.4_Silent_p.V438V|SEMA4D_ENST00000455551.2_Silent_p.V438V|SEMA4D_ENST00000438547.2_Silent_p.V438V			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	438	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGACAAACATGACATCATAGA	0.512																																																	0													128	109	115					9																	92002317		2203	4300	6503	SO:0001819	synonymous_variant	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1314C>T	9.37:g.92002317G>A			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.V438	ENST00000450295.1	37	c.1314	CCDS6685.1	9																																																																																			SEMA4D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000187764		0.512	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1		0	67	0	G	NM_006378		92002317	-1			no_errors	ENST00000356444	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.999	A	A	92002317	G	A	92002317	2	1	82	1	0	0	0	0	0	0	0	1	14079	1277	45	3		3	SEMA4D	9	92002317	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3042372	92002317	49211114	160	21731											
C9orf89	84270	genome.wustl.edu	37	chr9	95872944	95872944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactgccaggagttctaccGagccctgtatatccatgccc	8	9	10	14	1	1	0	0	0	1	0	2	3	2	2	5	2	4	2	5	2	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:95872944G>A	ENST00000375464.2	+	3	373	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	82	CARD.				negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GAGTTCTACCGAGCCCTGTAT	0.642																																																	0													70	69	70					9																	95872944		2203	4300	6503	SO:0001583	missense	0			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"Bcl10-interacting protein with CARD"					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.245G>A	9.37:g.95872944G>A	ENSP00000364613:p.Arg82Gln		Q5BJH8|Q9BSY2	Missense_Mutation	SNP	superfamily_DEATH-like_dom	p.R82Q	ENST00000375464.2	37	c.245	CCDS6702.2	9	.	.	.	.	.	.	.	.	.	.	G	31	5.088167	0.94100	.	.	ENSG00000165233	ENST00000375464	T	0.14516	2.5	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	.	.	.	0.48135	D	0.999595	D	0.89917	1.0	D	0.85130	0.997	T	0.32561	-0.9902	9	0.87932	D	0	.	15.7277	0.77774	0.0:0.0:1.0:0.0	.	82	Q96LW7-2	.	Q	82	ENSP00000364613:R82Q	ENSP00000364613:R82Q	R	+	2	0	C9orf89	94912765	1.000000	0.71417	0.963000	0.40424	0.957000	0.61999	7.238000	0.78173	2.386000	0.81285	0.491000	0.48974	CGA	C9orf89	-	superfamily_DEATH-like_dom	ENSG00000165233		0.642	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf89	HGNC	protein_coding	OTTHUMT00000053128.1	-	0	126	0	G	NM_032310		95872944	1	tier1	-	no_errors	ENST00000466409	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.990	A	A	95872944	G	A	95872944	3	1	82	1	0	0	0	0	1	0	0	0	2510	1058	37	1	255	1	C9orf89	9	95872944	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3870627	95872944	45340487	161	21732											
C9orf102	375748	genome.wustl.edu	37	chr9	98678666	98678666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtctggctggtttctcAggcgcaccaagactcttatc	8	12	10	11	1	3	2	1	0	3	2	5	2	3	2	1	3	0	3	1	3	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:98678666A>G	ENST00000288985.7	+	6	1446	c.1141A>G	c.(1141-1143)Agg>Ggg	p.R381G	ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Missense_Mutation_p.R192G	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	381					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										CTGGTTTCTCAGGCGCACCAA	0.428																																																	0													65	69	68					9																	98678666		2203	4300	6503	SO:0001583	missense	0			BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"chromosome 9 open reading frame 102", "excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1141A>G	9.37:g.98678666A>G	ENSP00000288985:p.Arg381Gly		A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R192G	ENST00000288985.7	37	c.574	CCDS35072.1	9	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751576	0.69533	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	D;D	0.96913	-4.17;-4.17	4.79	0.922	0.19408	SNF2-related (1);	0.000000	0.56097	D	0.000022	D	0.98645	0.9546	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.77557	0.964;0.99;0.99	D	0.98688	1.0695	10	0.87932	D	0	-15.734	12.7171	0.57121	0.5754:0.4246:0.0:0.0	.	192;63;381	Q5T890-2;F2Z2R4;Q5T890	.;.;RAD26_HUMAN	G	63;381;192	ENSP00000288985:R381G;ENSP00000416286:R192G	ENSP00000288985:R381G	R	+	1	2	C9orf102	97718487	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	2.423000	0.44705	0.055000	0.16094	0.454000	0.30748	AGG	ERCC6L2	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000182150		0.428	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ERCC6L2	HGNC	protein_coding	OTTHUMT00000053247.2	-	0	84	0	A	NM_001010895		98678666	1	tier1	-	no_errors	ENST00000437817	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.999	G	G	98678666	A	G	98678666	3	3	82	1	0	0	0	0	1	0	0	0	2452	179	7	4	1163	4	C9orf102	9	98678666	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	2805722	98678666	42534765	162	21733											
TBC1D2	55357	genome.wustl.edu	37	chr9	100961830	100961830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcagctgtttcatgcGgaaggggttcatgtcattga	7	12	13	9	2	3	1	3	1	0	0	3	2	3	2	1	3	3	4	1	3	1	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:100961830G>A	ENST00000375066.5	-	13	2678	c.2587C>T	c.(2587-2589)Cgc>Tgc	p.R863C	TBC1D2_ENST00000342112.5_Missense_Mutation_p.R656C|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.R414C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	874					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TGTTTCATGCGGAAGGGGTTC	0.632																																																	0													135	138	137					9																	100961830		2203	4300	6503	SO:0001583	missense	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2587C>T	9.37:g.100961830G>A	ENSP00000364207:p.Arg863Cys		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.R863C	ENST00000375066.5	37	c.2587	CCDS35080.1	9	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204836	0.58234	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.08896	3.04;3.46;3.06	5.51	2.56	0.30785	Rab-GAP/TBC domain (1);	0.423651	0.25774	N	0.028394	T	0.07999	0.0200	N	0.14661	0.345	0.37502	D	0.916797	D;D	0.65815	0.991;0.995	B;P	0.50708	0.446;0.648	T	0.28870	-1.0030	10	0.72032	D	0.01	.	9.4063	0.38464	0.248:0.0:0.752:0.0	.	874;863	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	C	863;656;414	ENSP00000364207:R863C;ENSP00000341567:R656C;ENSP00000364203:R414C	ENSP00000341567:R656C	R	-	1	0	TBC1D2	100001651	1.000000	0.71417	0.043000	0.18650	0.567000	0.35839	5.624000	0.67764	0.244000	0.21351	-0.424000	0.05967	CGC	TBC1D2	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000095383		0.632	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053367.1		0	35	0	G	NM_018421		100961830	-1			no_errors	ENST00000375066	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.745	A	A	100961830	G	A	100961830	3	1	82	1	0	0	0	0	1	0	0	0	15655	1116	39	1	170	1	TBC1D2	9	100961830	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2283164	100961830	40251601	163	21734											
ASTN2	23245	genome.wustl.edu	37	chr9	120176909	120176911	+	In_Frame_Del	DEL	GCG	GCG	-																															agccaggagagcccggggacGcggcggcggcggcggctccg																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:120176909_120176911delGCG	ENST00000313400.4	-	1	406_408	c.306_308delCGC	c.(304-309)gccgcg>gcg	p.102_103AA>A	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.102_103AA>A|ASTN2_ENST00000361209.2_In_Frame_Del_p.102_103AA>A			O75129	ASTN2_HUMAN	astrotactin 2	102					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCCGGGGACGCGGCGGCGGCGG	0.788																																																	0										52,31,2535		15,0,22,3,25,1244						2.2	1			5	7,76,5503		3,0,1,3,70,2716	no	codingComplex	ASTN2	NM_014010.4		18,0,23,6,95,3960	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4859,3.1704,2.0234				59,107,8038				SO:0001651	inframe_deletion	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.306_308delCGC	9.37:g.120176918_120176920delGCG	ENSP00000314038:p.Ala103del		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.A103in_frame_del	ENST00000313400.4	37	c.308_306		9																																																																																			ASTN2	-	NULL	ENSG00000148219		0.788	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding			0	35	0	GCG	NM_014010		120176911	-1	tier1		no_errors	ENST00000313400	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	1.000:1.000:1.000	-	-	120176911	GCG	-	120176909	7	5	82	1	0	1	0	1	0	0	0	0	1066	1087	38	0	3878	0	ASTN2	9	120176909	In_Frame_Del	DEL	GCG	TCGA-L5-A8NH-01A-11D-A37C-09	19215079	120176909	21036522	164	21735											
SPTAN1	6709	genome.wustl.edu	37	chr9	131370475	131370475	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccttcttgaataccGaagacaaaggagactcactg	13	7	12	9	1	2	3	1	1	1	2	2	6	2	4	2	3	1	0	2	3	4	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:131370475G>T	ENST00000372731.4	+	34	4521	c.4411G>T	c.(4411-4413)Gaa>Taa	p.E1471*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E1471*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E1471*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1471					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E1471K(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTTGAATACCGAAGACAAAGG	0.517																																					NSCLC(120;833 1744 2558 35612 37579)												1	Substitution - Missense(1)	large_intestine(1)											162	166	165					9																	131370475		2203	4300	6503	SO:0001587	stop_gained	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4411G>T	9.37:g.131370475G>T	ENSP00000361816:p.Glu1471*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E1471*	ENST00000372731.4	37	c.4411	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	44	10.727774	0.99457	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.54	5.54	0.83059	.	0.048330	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8585	0.96775	0.0:0.0:1.0:0.0	.	.	.	.	X	1471;1471;1471;1451	.	ENSP00000350882:E1471X	E	+	1	0	SPTAN1	130410296	1.000000	0.71417	0.942000	0.38095	0.941000	0.58515	9.420000	0.97426	2.760000	0.94817	0.655000	0.94253	GAA	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.517	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1		0	44	0	G	NM_003127		131370475	1			no_errors	ENST00000358161	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	1.000	T	T	131370475	G	T	131370475	4	4	82	1	0	0	0	0	0	1	0	0	15164	1059	37	2	4541	2	SPTAN1	9	131370475	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	11193566	131370475	9842956	165	21736											
TTF1	7270	genome.wustl.edu	37	chr9	135251460	135251460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacttgcttgggtgctgCaggagtctggattttagtgc	8	13	14	6	0	1	0	0	0	1	0	1	3	1	2	0	3	5	3	0	3	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr9:135251460C>T	ENST00000334270.2	-	11	2599	c.2560G>A	c.(2560-2562)Gca>Aca	p.A854T	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	854					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TTGGGTGCTGCAGGAGTCTGG	0.418																																																	0													164	157	159					9																	135251460		2203	4300	6503	SO:0001583	missense	0			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2560G>A	9.37:g.135251460C>T	ENSP00000333920:p.Ala854Thr		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A854T	ENST00000334270.2	37	c.2560	CCDS6948.1	9	.	.	.	.	.	.	.	.	.	.	c	11.07	1.531393	0.27387	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.10573	2.86	4.97	2.0	0.26442	.	0.597827	0.14729	N	0.301861	T	0.08403	0.0209	L	0.47716	1.5	0.09310	N	1	B	0.30824	0.296	B	0.19946	0.027	T	0.27502	-1.0072	10	0.52906	T	0.07	.	4.9524	0.14021	0.1665:0.6507:0.0:0.1828	.	854	Q15361	TTF1_HUMAN	T	854	ENSP00000333920:A854T	ENSP00000245588:A854T	A	-	1	0	TTF1	134241281	0.001000	0.12720	0.000000	0.03702	0.099000	0.18886	0.125000	0.15749	0.199000	0.20427	-0.258000	0.10820	GCA	TTF1	-	NULL	ENSG00000125482		0.418	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	-	0	50	0	C	NM_007344		135251460	-1	tier1	-	no_errors	ENST00000334270	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	T	T	135251460	C	T	135251460	3	4	82	1	0	0	0	0	1	0	0	0	16767	710	25	3	161	3	TTF1	9	135251460	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	3880985	135251460	5961971	166	21737											
WDR37	22884	genome.wustl.edu	37	chr10	1170271	1170271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccccattgcaactattcGcacggactctgccattaaca	11	10	5	15	2	1	0	0	0	1	0	3	1	2	1	3	1	4	2	3	1	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:1170271G>T	ENST00000358220.1	+	12	1361	c.1217G>T	c.(1216-1218)cGc>cTc	p.R406L	WDR37_ENST00000482165.1_3'UTR|WDR37_ENST00000263150.4_Missense_Mutation_p.R406L			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	406										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GCAACTATTCGCACGGACTCT	0.448																																																	0													126	113	117					10																	1170271		2203	4300	6503	SO:0001583	missense	0			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"WD repeat domain containing"	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1217G>T	10.37:g.1170271G>T	ENSP00000350954:p.Arg406Leu		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R406L	ENST00000358220.1	37	c.1217	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.285058	0.95517	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01359	4.98;4.98	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.11281	0.0275	M	0.86343	2.81	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.68192	0.748;0.956	T	0.00193	-1.1934	10	0.72032	D	0.01	.	19.6953	0.96022	0.0:0.0:1.0:0.0	.	407;406	A8K976;Q9Y2I8	.;WDR37_HUMAN	L	406	ENSP00000350954:R406L;ENSP00000263150:R406L	ENSP00000263150:R406L	R	+	2	0	WDR37	1160271	1.000000	0.71417	0.844000	0.33320	0.869000	0.49853	9.671000	0.98627	2.665000	0.90641	0.591000	0.81541	CGC	WDR37	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000047056		0.448	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1		0	83	0	G	NM_014023		1170271	1			no_errors	ENST00000263150	ensembl	human	known	74_37	missense	6.00	46	3	SNP	1.000	T	T	1170271	G	T	1170271	3	4	82	1	0	0	0	0	1	0	0	0	17340	1087	38	2	1259	2	WDR37	10	1170271	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		1170271	134364476	167	21738											
SYT15	83849	genome.wustl.edu	37	chr10	46969283	46969283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctagcatgcggctggcaggGcctgtcccgctgcccactgg	4	7	14	16	2	0	0	0	0	0	0	1	0	1	0	4	4	3	4	4	4	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:46969283G>T	ENST00000374321.4	-	2	244	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374325.3_Missense_Mutation_p.P60T|SYT15_ENST00000503753.1_Missense_Mutation_p.P60T|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCTGGCAGGGCCTGTCCCGC	0.632																																					Ovarian(57;1152 1428 19651 37745)												0													37	48	44					10																	46969283		2152	4261	6413	SO:0001583	missense	0			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"Synaptotagmins"	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.178C>A	10.37:g.46969283G>T	ENSP00000363441:p.Pro60Thr		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P60T	ENST00000374321.4	37	c.178	CCDS44376.1	10	.	.	.	.	.	.	.	.	.	.	g	3.428	-0.116794	0.06838	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374321	T;T;T	0.14022	2.54;2.54;2.78	3.66	0.672	0.17935	.	.	.	.	.	T	0.08223	0.0205	L	0.34521	1.04	0.09310	N	1	B;B	0.24823	0.112;0.095	B;B	0.22386	0.039;0.037	T	0.42172	-0.9467	9	0.16420	T	0.52	.	3.8503	0.08953	0.2345:0.2019:0.5636:0.0	.	60;60	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	T	60	ENSP00000363445:P60T;ENSP00000427607:P60T;ENSP00000363441:P60T	ENSP00000363441:P60T	P	-	1	0	SYT15	46389289	0.063000	0.20901	0.001000	0.08648	0.036000	0.12997	0.975000	0.29449	0.031000	0.15407	0.467000	0.42956	CCC	SYT15	-	NULL	ENSG00000204176		0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT15	HGNC	protein_coding	OTTHUMT00000367008.1	-	0	151	0	G	NM_031912		46969283	-1	tier1	-	no_errors	ENST00000374321	ensembl	human	known	74_37	missense	5.74	114	7	SNP	0.008	T	T	46969283	G	T	46969283	3	4	82	1	0	0	0	0	1	0	0	0	15518	1203	42	3	1169	3	SYT15	10	46969283	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	45799012	46969283	88565464	168	21739											
PHYHIPL	84457	genome.wustl.edu	37	chr10	61005214	61005214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggatgtcattttagaaGtcatttacactgaccctgtg	10	13	8	10	0	2	2	2	1	0	1	2	3	2	3	2	1	1	0	2	1	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:61005214G>T	ENST00000373880.4	+	5	1258	c.994G>T	c.(994-996)Gtc>Ttc	p.V332F	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.V306F	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	332						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CATTTTAGAAGTCATTTACAC	0.438																																																	0													74	69	71					10																	61005214		2203	4300	6503	SO:0001583	missense	0			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.994G>T	10.37:g.61005214G>T	ENSP00000362987:p.Val332Phe		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.V332F	ENST00000373880.4	37	c.994	CCDS7254.1	10	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670589	0.67814	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.49139	0.79;0.79	5.56	4.59	0.56863	.	0.088726	0.47455	D	0.000238	T	0.58595	0.2133	M	0.68317	2.08	0.80722	D	1	D;P	0.54772	0.968;0.947	P;P	0.54210	0.745;0.561	T	0.63060	-0.6721	10	0.72032	D	0.01	-13.0214	12.8229	0.57704	0.0873:0.0:0.9127:0.0	.	306;332	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	F	332;306	ENSP00000362987:V332F;ENSP00000362985:V306F	ENSP00000362985:V306F	V	+	1	0	PHYHIPL	60675220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.771000	0.74996	1.196000	0.43129	0.655000	0.94253	GTC	PHYHIPL	-	NULL	ENSG00000165443		0.438	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHIPL	HGNC	protein_coding	OTTHUMT00000048156.1	-	0	24	0	G	NM_032439		61005214	1	tier1	-	no_errors	ENST00000373880	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T	T	61005214	G	T	61005214	3	4	82	1	0	0	0	0	1	0	0	0	11906	1029	36	3	1044	3	PHYHIPL	10	61005214	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	14035931	61005214	74529533	169	21740											
CCDC6	8030	genome.wustl.edu	37	chr10	61566744	61566744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacagagggcttctcttcTctccatctccctctgcagct	5	13	7	16	1	4	1	0	0	4	1	9	2	5	1	2	1	2	3	2	1	0	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:61566744T>C	ENST00000263102.6	-	6	1171	c.940A>G	c.(940-942)Aga>Gga	p.R314G		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	314						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GCTTCTCTTCTCTCCATCTCC	0.478			T	RET	NSCLC																																			Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0													123	107	112					10																	61566744		2203	4300	6503	SO:0001583	missense	0			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.940A>G	10.37:g.61566744T>C	ENSP00000263102:p.Arg314Gly		Q15250|Q6GSG7	Missense_Mutation	SNP	pfam_DUF2046	p.R314G	ENST00000263102.6	37	c.940	CCDS7257.1	10	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184396	0.78677	.	.	ENSG00000108091	ENST00000263102	D	0.94092	-3.35	5.37	1.59	0.23543	.	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95081	0.8213	10	0.87932	D	0	-13.5242	14.1751	0.65537	0.0:0.0:0.5558:0.4442	.	314	Q16204	CCDC6_HUMAN	G	314	ENSP00000263102:R314G	ENSP00000263102:R314G	R	-	1	2	CCDC6	61236750	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.820000	0.48057	0.320000	0.23234	0.378000	0.23410	AGA	CCDC6	-	pfam_DUF2046	ENSG00000108091		0.478	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC6	HGNC	protein_coding	OTTHUMT00000048176.2		0	71	0	T	NM_005436		61566744	-1			no_errors	ENST00000263102	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	C	C	61566744	T	C	61566744	3	2	82	1	0	0	0	0	1	0	0	0	2837	1559	54	4	500	4	CCDC6	10	61566744	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	561530	61566744	73968003	170	21741											
CCAR1	55749	genome.wustl.edu	37	chr10	70507295	70507295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgcagactcaaccacaGcccttattacagcagcctca	12	9	5	15	0	2	1	2	0	0	1	2	1	2	1	3	0	6	2	3	0	4	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:70507295G>T	ENST00000265872.6	+	8	917	c.798G>T	c.(796-798)caG>caT	p.Q266H	CCAR1_ENST00000543719.1_Missense_Mutation_p.Q251H|CCAR1_ENST00000535016.1_Missense_Mutation_p.Q251H	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	266					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTCAACCACAGCCCTTATTAC	0.413																																																	0													131	129	130					10																	70507295		2203	4300	6503	SO:0001583	missense	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.798G>T	10.37:g.70507295G>T	ENSP00000265872:p.Gln266His		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom	p.Q266H	ENST00000265872.6	37	c.798	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711573	0.48517	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012;ENST00000540807	T;T;T;T;T;T	0.29655	1.56;1.78;1.78;1.8;1.82;1.83	5.06	4.15	0.48705	.	0.060773	0.64402	D	0.000002	T	0.29223	0.0727	L	0.36672	1.1	0.51767	D	0.999938	P;P;P	0.46277	0.785;0.875;0.867	P;B;P	0.48141	0.466;0.365;0.568	T	0.02431	-1.1160	10	0.40728	T	0.16	-7.9493	8.5716	0.33572	0.0774:0.0:0.7708:0.1518	.	251;266;240	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	266;251;251;251;240;71;71	ENSP00000265872:Q266H;ENSP00000441820:Q251H;ENSP00000445254:Q251H;ENSP00000439252:Q251H;ENSP00000438610:Q240H;ENSP00000439642:Q71H	ENSP00000265872:Q266H	Q	+	3	2	CCAR1	70177301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.172000	0.65003	1.266000	0.44231	0.655000	0.94253	CAG	CCAR1	-	NULL	ENSG00000060339		0.413	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	-	0	99	0	G	NM_018237		70507295	1	tier1	-	no_errors	ENST00000265872	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	70507295	G	T	70507295	3	4	82	1	0	0	0	0	1	0	0	0	2737	962	34	3	824	3	CCAR1	10	70507295	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	8940551	70507295	65027452	171	21742											
VCL	7414	genome.wustl.edu	37	chr10	75877901	75877901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggatttacactgcgctggGttagaaagactccctggtac	9	11	11	10	1	0	2	0	0	0	2	1	3	1	3	1	3	3	3	1	3	4	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:75877901G>T	ENST00000211998.4	+	22	3473	c.3379G>T	c.(3379-3381)Gtt>Ttt	p.V1127F	RP11-178G16.4_ENST00000598318.1_lincRNA|RP11-178G16.5_ENST00000599110.1_lincRNA|VCL_ENST00000372755.3_Missense_Mutation_p.V1059F|VCL_ENST00000417648.2_Missense_Mutation_p.V320F	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1127	C-terminal tail.|Facilitates phospholipid membrane insertion. {ECO:0000250}.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ACTGCGCTGGGTTAGAAAGAC	0.507																																																	0													86	77	80					10																	75877901		2203	4300	6503	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.3379G>T	10.37:g.75877901G>T	ENSP00000211998:p.Val1127Phe		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.V1127F	ENST00000211998.4	37	c.3379	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049392	0.75846	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000436396	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.5	5.5	0.81552	.	0.181933	0.47455	D	0.000224	T	0.68787	0.3039	L	0.49126	1.545	0.80722	D	1	D;P;P	0.71674	0.998;0.568;0.588	D;B;B	0.70016	0.967;0.232;0.158	T	0.70037	-0.4982	10	0.66056	D	0.02	.	19.4027	0.94637	0.0:0.0:1.0:0.0	.	320;1059;1127	B4DTM7;P18206-2;P18206	.;.;VINC_HUMAN	F	1059;1127;320;799	ENSP00000361841:V1059F;ENSP00000211998:V1127F;ENSP00000411887:V320F;ENSP00000415489:V799F	ENSP00000211998:V1127F	V	+	1	0	VCL	75547907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.401000	0.73256	2.576000	0.86940	0.655000	0.94253	GTT	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.507	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0	39	0	G	NM_003373, NM_014000		75877901	1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	T	T	75877901	G	T	75877901	3	4	82	1	0	0	0	0	1	0	0	0	17188	1261	44	3	3465	3	VCL	10	75877901	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	5370606	75877901	59656846	172	21743											
SORBS1	10580	genome.wustl.edu	37	chr10	97081740	97081740	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatcttgtgaggtttgactCctgtcgggggtgactcttcg	6	14	13	8	2	2	3	0	3	2	0	5	3	3	3	1	3	0	1	1	3	1	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:97081740C>T	ENST00000361941.3	-	29	3704	c.3678G>A	c.(3676-3678)agG>agA	p.R1226R	SORBS1_ENST00000306402.6_Silent_p.R715R|SORBS1_ENST00000354106.3_Silent_p.R938R|SORBS1_ENST00000371241.1_Silent_p.R618R|SORBS1_ENST00000371247.2_Silent_p.R1226R|SORBS1_ENST00000371245.3_Silent_p.R839R|SORBS1_ENST00000371227.4_Silent_p.R1200R|SORBS1_ENST00000371239.1_Silent_p.R745R|SORBS1_ENST00000371246.2_Silent_p.R1085R|SORBS1_ENST00000371249.2_Silent_p.R750R|SORBS1_ENST00000393949.1_Silent_p.R938R|SORBS1_ENST00000347291.4_Silent_p.R780R|SORBS1_ENST00000353505.5_Silent_p.R839R|SORBS1_ENST00000277982.5_Silent_p.R1085R|SORBS1_ENST00000607232.1_Silent_p.R1228R	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGGTTTGACTCCTGTCGGGGG	0.458																																																	0													113	109	110					10																	97081740		2203	4300	6503	SO:0001819	synonymous_variant	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.3678G>A	10.37:g.97081740C>T				Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.R1228	ENST00000361941.3	37	c.3684	CCDS31255.1	10																																																																																			SORBS1	-	superfamily_SH3_domain	ENSG00000095637		0.458	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1		0	80	0	C			97081740	-1			no_errors	ENST00000607232	ensembl	human	known	74_37	silent	5.80	64	4	SNP	1.000	T	T	97081740	C	T	97081740	2	4	82	1	0	0	0	0	0	0	0	1	14972	854	30	3		3	SORBS1	10	97081740	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	21203839	97081740	38453007	173	21744											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115609026	115609026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatgtaaagtacttgcaTcaaattctaaatcacttaaa	16	14	3	8	0	4	0	3	0	2	0	5	0	4	0	0	0	2	3	0	0	8	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:115609026T>C	ENST00000361384.2	-	2	2755	c.1838A>G	c.(1837-1839)gAt>gGt	p.D613G	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.D613G	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	613	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AGTACTTGCATCAAATTCTAA	0.378								Other identified genes with known or suspected DNA repair function																																									0													123	121	122					10																	115609026		2203	4300	6503	SO:0001583	missense	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1838A>G	10.37:g.115609026T>C	ENSP00000355185:p.Asp613Gly		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.D613G	ENST00000361384.2	37	c.1838	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047381	0.55110	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.65549	-0.16;-0.16	5.73	5.73	0.89815	.	0.448545	0.26082	N	0.026449	T	0.64114	0.2569	L	0.59436	1.845	0.43130	D	0.994869	D	0.53619	0.961	P	0.49637	0.617	T	0.66002	-0.6031	10	0.44086	T	0.13	-21.863	9.7453	0.40442	0.1919:0.0:0.0:0.8081	.	613	Q6PJP8	DCR1A_HUMAN	G	613	ENSP00000355185:D613G;ENSP00000358311:D613G	ENSP00000355185:D613G	D	-	2	0	DCLRE1A	115599016	0.140000	0.22579	1.000000	0.80357	0.805000	0.45488	2.566000	0.45948	2.302000	0.77476	0.533000	0.62120	GAT	DCLRE1A	-	NULL	ENSG00000198924		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	-	0	54	0	T	NM_014881		115609026	-1	tier1	-	no_errors	ENST00000361384	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.907	C	C	115609026	T	C	115609026	3	2	82	1	0	0	0	0	1	0	0	0	4303	1435	50	4	1316	4	DCLRE1A	10	115609026	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	18527286	115609026	19925721	174	21745											
TCERG1L	256536	genome.wustl.edu	37	chr10	132915087	132915087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagcagcatgtctcggAagtgggtcacacgctcctcc	7	9	10	15	2	3	0	1	0	2	0	7	1	5	1	3	2	2	3	3	2	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr10:132915087A>G	ENST00000368642.4	-	9	1455	c.1370T>C	c.(1369-1371)tTc>tCc	p.F457S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	457	FF 1.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CATGTCTCGGAAGTGGGTCAC	0.657																																																	0													70	53	59					10																	132915087		2201	4296	6497	SO:0001583	missense	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1370T>C	10.37:g.132915087A>G	ENSP00000357631:p.Phe457Ser		Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.F457S	ENST00000368642.4	37	c.1370	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972367	0.53614	.	.	ENSG00000176769	ENST00000368642	T	0.69306	-0.39	4.18	4.18	0.49190	FF domain (4);	0.000000	0.64402	D	0.000001	D	0.84642	0.5517	H	0.94582	3.555	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.87197	0.2238	10	0.87932	D	0	.	9.5279	0.39175	1.0:0.0:0.0:0.0	.	457	Q5VWI1	TCRGL_HUMAN	S	457	ENSP00000357631:F457S	ENSP00000357631:F457S	F	-	2	0	TCERG1L	132805077	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	4.424000	0.59868	1.753000	0.51906	0.533000	0.62120	TTC	TCERG1L	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain	ENSG00000176769		0.657	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	-	0	56	0	A	NM_174937		132915087	-1	tier1	-	no_errors	ENST00000368642	ensembl	human	known	74_37	missense	56.41	17	22	SNP	1.000	G	G	132915087	A	G	132915087	3	3	82	1	0	0	0	0	1	0	0	0	15733	246	9	4	406	4	TCERG1L	10	132915087	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	17306061	132915087	2619660	175	21746											
ART5	116969	genome.wustl.edu	37	chr11	3661402	3661402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattctgggctttgaagccaGggggcaaggtaagccctcga	9	8	14	10	1	1	1	0	1	1	0	2	2	1	1	2	4	2	3	2	4	3	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:3661402G>T	ENST00000397068.3	-	2	649	c.257C>A	c.(256-258)cCt>cAt	p.P86H	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000359918.4_Missense_Mutation_p.P86H|ART5_ENST00000397067.3_Missense_Mutation_p.P86H	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	86					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGAAGCCAGGGGGCAAGGT	0.592																																																	0													77	73	75					11																	3661402		2201	4298	6499	SO:0001583	missense	0			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.257C>A	11.37:g.3661402G>T	ENSP00000380258:p.Pro86His		C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	pfam_ART,prints_ART	p.P86H	ENST00000397068.3	37	c.257	CCDS7743.1	11	.	.	.	.	.	.	.	.	.	.	G	11.16	1.557278	0.27827	.	.	ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918;ENST00000425767	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	6.07	1.54	0.23209	.	0.632124	0.16203	N	0.224832	T	0.26085	0.0636	M	0.84511	2.7	0.22266	N	0.99925	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.971	T	0.03103	-1.1072	10	0.48119	T	0.1	-3.7979	6.8314	0.23913	0.2367:0.0:0.6327:0.1306	.	86;86	Q96L15-2;Q96L15	.;NAR5_HUMAN	H	86;86;86;65	ENSP00000380258:P86H;ENSP00000380257:P86H;ENSP00000352992:P86H;ENSP00000413852:P65H	ENSP00000352992:P86H	P	-	2	0	ART5	3617978	0.003000	0.15002	0.847000	0.33407	0.191000	0.23601	0.571000	0.23669	0.426000	0.26116	0.655000	0.94253	CCT	ART5	-	pfam_ART	ENSG00000167311		0.592	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ART5	HGNC	protein_coding	OTTHUMT00000032760.2	-	0	59	0	G	NM_053017		3661402	-1	tier1	-	no_errors	ENST00000359918	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.579	T	T	3661402	G	T	3661402	3	4	82	1	0	0	0	0	1	0	0	0	1001	1000	35	3	630	3	ART5	11	3661402	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		3661402	131345114	176	21747											
NUP98	4928	genome.wustl.edu	37	chr11	3720357	3720357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgatccttttgcctgTgaggtagctgaatacagcct	8	13	9	11	0	1	3	1	3	0	0	2	3	2	3	3	1	4	2	3	1	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:3720357T>C	ENST00000324932.7	-	25	4384	c.3964A>G	c.(3964-3966)Aca>Gca	p.T1322A	NUP98_ENST00000359171.4_Missense_Mutation_p.T1322A|NUP98_ENST00000355260.3_Missense_Mutation_p.T1322A|NUP98_ENST00000488828.1_5'Flank	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1339					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTTTGCCTGTGAGGTAGCTG	0.547			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													169	168	168					11																	3720357		2201	4298	6499	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"nucleoporin 98kD"			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3964A>G	11.37:g.3720357T>C	ENSP00000316032:p.Thr1322Ala		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.T1322A	ENST00000324932.7	37	c.3964	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.309734|4.309734	0.81247|0.81247	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000359171;ENST00000355260	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.049102	.|0.85682	.|D	.|0.000000	T|T	0.66096|0.66096	0.2755|0.2755	L|L	0.52905|0.52905	1.665|1.665	0.36512|0.36512	D|D	0.869662|0.869662	.|D;P;D	.|0.62365	.|0.991;0.949;0.976	.|P;P;P	.|0.59643	.|0.861;0.73;0.741	T|T	0.66040|0.66040	-0.6022|-0.6022	5|9	.|0.14656	.|T	.|0.56	-9.3858|-9.3858	15.3831|15.3831	0.74676|0.74676	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1322;1322;1236	.|P52948-2;P52948-5;P52948-6	.|.;.;.	R|A	274|1322	.|.	.|ENSP00000316032:T1322A	H|T	-|-	2|1	0|0	NUP98|NUP98	3676933|3676933	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.868000|0.868000	0.49771|0.49771	4.364000|4.364000	0.59479|0.59479	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	CAC|ACA	NUP98	-	pfam_Nup96	ENSG00000110713		0.547	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0	67	0	T	NM_016320		3720357	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	35.09	37	20	SNP	1.000	C	C	3720357	T	C	3720357	3	2	82	1	0	0	0	0	1	0	0	0	10812	1696	59	4	1474	4	NUP98	11	3720357	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	58955	3720357	131286159	177	21748											
OR51E1	143503	genome.wustl.edu	37	chr11	4673819	4673819	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcctaataggcctcccTggtttagaagaggctcagtt	9	13	9	10	0	2	2	2	0	0	2	4	2	4	2	3	3	0	3	3	3	4	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:4673819T>A	ENST00000530215.1	+	1	104	c.63T>A	c.(61-63)ccT>ccA	p.P21P	OR51E1_ENST00000396952.5_Silent_p.P21P			Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAGGCCTCCCTGGTTTAGAAG	0.488																																																	0													286	209	235					11																	4673819		2201	4298	6499	SO:0001819	synonymous_variant	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000530215.1:c.63T>A	11.37:g.4673819T>A			A8KAM6|Q5S4P5|Q66X57|Q6IF93	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P21	ENST00000530215.1	37	c.63		11																																																																																			OR51E1	-	NULL	ENSG00000180785		0.488	OR51E1-002	PUTATIVE	basic|exp_conf	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000385957.1	-	0	59	0	T	NM_152430		4673819	1	tier1	-	no_errors	ENST00000396952	ensembl	human	known	74_37	silent	14.81	46	8	SNP	0.996	A	A	4673819	T	A	4673819	2	1	82	1	0	0	0	0	0	0	0	1	11133	1567	55	5		5	OR51E1	11	4673819	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	953462	4673819	130332697	178	21749											
WT1	7490	genome.wustl.edu	37	chr11	32421555	32421555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctccgcagaggatgggcGttgtgtggttatcgctctcg	4	11	17	9	4	1	1	0	0	1	1	4	2	2	2	1	4	0	5	1	4	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:32421555G>A	ENST00000379079.2	-	6	674	c.401C>T	c.(400-402)aCg>aTg	p.T134M	WT1_ENST00000332351.3_Missense_Mutation_p.T346M|WT1_ENST00000448076.3_Missense_Mutation_p.T346M|WT1_ENST00000530998.1_Missense_Mutation_p.T117M	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	278					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGGATGGGCGTTGTGTGGTT	0.557			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0													303	252	270					11																	32421555		2202	4299	6501	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.401C>T	11.37:g.32421555G>A	ENSP00000368370:p.Thr134Met		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.T346M	ENST00000379079.2	37	c.1037	CCDS55751.1	11	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418840	0.42918	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527775	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.98	5.98	0.97165	Wilm&apos (1);s tumour protein, N-terminal (1);	0.255135	0.30593	U	0.009287	D	0.86908	0.6046	L	0.46157	1.445	0.09310	N	1	P;P;P;P;P	0.48694	0.914;0.668;0.616;0.786;0.616	P;P;P;P;P	0.52109	0.493;0.69;0.562;0.627;0.562	T	0.81116	-0.1079	10	0.48119	T	0.1	.	16.6753	0.85277	0.0:0.1293:0.8707:0.0	.	334;278;351;117;134	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	M	134;346;117;329;346;97	ENSP00000368370:T134M;ENSP00000331327:T346M;ENSP00000435307:T117M;ENSP00000415516:T329M;ENSP00000413452:T346M;ENSP00000435351:T97M	ENSP00000331327:T346M	T	-	2	0	WT1	32378131	0.946000	0.32159	0.011000	0.14972	0.059000	0.15707	4.759000	0.62227	2.835000	0.97688	0.650000	0.86243	ACG	WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.557	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095434.1	-	0	73	0	G	NM_000378		32421555	-1	tier1	-	no_errors	ENST00000332351	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.151	A	A	32421555	G	A	32421555	3	1	82	1	0	0	0	0	1	0	0	0	17457	1145	40	1	536	1	WT1	11	32421555	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	27747736	32421555	102584961	179	21750											
DDB2	1643	genome.wustl.edu	37	chr11	47254427	47254427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaataccaaccagttttaCgcctcctcaatggagggaac	12	9	7	13	1	2	0	2	0	0	0	3	2	3	2	4	2	4	1	4	2	6	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:47254427C>T	ENST00000256996.4	+	4	714	c.519C>T	c.(517-519)taC>taT	p.Y173Y	DDB2_ENST00000378601.3_Silent_p.Y173Y|DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378603.3_Silent_p.Y109Y	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	173					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						ACCAGTTTTACGCCTCCTCAA	0.463			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	damage-specific DNA binding protein 2		E	0													167	138	148					11																	47254427		2201	4298	6499	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"WD repeat domain containing"	2718	protein-coding gene	gene with protein product	"xeroderma pigmentosum group E protein", "UV-damaged DNA-binding protein 2", "DDB p48 subunit"	600811	"damage-specific DNA binding protein 2 (48kD)"			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.519C>T	11.37:g.47254427C>T			B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y173	ENST00000256996.4	37	c.519	CCDS7927.1	11																																																																																			DDB2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000134574		0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DDB2	HGNC	protein_coding		-	0	55	0	C	NM_000107		47254427	1	tier1	-	no_errors	ENST00000256996	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.990	T	T	47254427	C	T	47254427	2	4	82	1	0	0	0	0	0	0	0	1	4333	547	19	1		1	DDB2	11	47254427	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	14832872	47254427	87752089	180	21751											
OR4C3	256144	genome.wustl.edu	37	chr11	48346874	48346874	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatggctcagctctttGgagctcattttttgggaggt	5	15	13	8	0	3	0	2	0	1	0	3	2	3	2	0	4	3	5	0	4	0	4	rs375760019		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:48346874G>T	ENST00000319856.4	+	1	403	c.382G>T	c.(382-384)Gga>Tga	p.G128*		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCAGCTCTTTGGAGCTCATTT	0.453																																																	0													268	254	259					11																	48346874		2201	4298	6499	SO:0001587	stop_gained	0			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"GPCR / Class A : Olfactory receptors"	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.382G>T	11.37:g.48346874G>T	ENSP00000321419:p.Gly128*		B2RNF2|Q6IFB3	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G128*	ENST00000319856.4	37	c.382	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266009	0.80358	.	.	ENSG00000176547	ENST00000319856	.	.	.	5.78	4.84	0.62591	.	0.785035	0.11111	N	0.598598	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	12.1258	0.53917	0.0:0.0:0.7035:0.2965	.	.	.	.	X	128	.	ENSP00000321419:G128X	G	+	1	0	OR4C3	48303450	0.003000	0.15002	0.963000	0.40424	0.988000	0.76386	0.360000	0.20250	2.782000	0.95742	0.478000	0.44815	GGA	OR4C3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176547		0.453	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	-	0	108	0	G	NM_001004702		48346874	1	tier1	-	no_errors	ENST00000319856	ensembl	human	known	74_37	nonsense	20.73	65	17	SNP	0.927	T	T	48346874	G	T	48346874	4	4	82	1	0	0	0	0	0	1	0	0	11089	1349	47	3	384	3	OR4C3	11	48346874	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1092447	48346874	86659642	181	21752											
OR5AS1	219447	genome.wustl.edu	37	chr11	55798703	55798703	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactagctattccctagacaCtgataaggtggtggcagtgt	10	11	11	9	0	0	2	0	1	0	1	1	2	1	2	1	3	1	2	1	3	4	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:55798703C>G	ENST00000313555.1	+	1	809	c.809C>G	c.(808-810)aCt>aGt	p.T270S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCCCTAGACACTGATAAGGTG	0.398																																																	0													92	80	84					11																	55798703		2201	4296	6497	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.809C>G	11.37:g.55798703C>G	ENSP00000324111:p.Thr270Ser		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T270S	ENST00000313555.1	37	c.809	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	C	1.197	-0.633735	0.03584	.	.	ENSG00000181785	ENST00000313555	T	0.00054	8.8	5.14	3.25	0.37280	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34362	U	0.004021	T	0.00109	0.0003	L	0.28192	0.835	0.09310	N	1	B	0.24317	0.101	B	0.25506	0.061	T	0.16512	-1.0400	10	0.39692	T	0.17	.	5.4701	0.16666	0.1614:0.6711:0.0:0.1675	.	270	Q8N127	O5AS1_HUMAN	S	270	ENSP00000324111:T270S	ENSP00000324111:T270S	T	+	2	0	OR5AS1	55555279	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	-0.238000	0.08977	0.550000	0.28991	0.579000	0.79373	ACT	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181785		0.398	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1		0	57	0	C	NM_001001921		55798703	1			no_errors	ENST00000313555	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.000	G	G	55798703	C	G	55798703	3	3	82	1	0	0	0	0	1	0	0	0	11185	565	20	5	811	5	OR5AS1	11	55798703	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	7451829	55798703	79207813	182	21753											
OR5T1	390155	genome.wustl.edu	37	chr11	56043714	56043714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctctgcttgctatttcTtgttctgacactcacgtaat	6	17	5	13	1	4	1	1	1	3	0	5	1	5	1	2	0	2	4	2	0	2	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398																																																	1	Substitution - coding silent(1)	lung(1)											236	224	228					11																	56043714		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.600T>C	11.37:g.56043714T>C			B2RNM9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S200	ENST00000313033.2	37	c.600	CCDS31525.1	11																																																																																			OR5T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181698		0.398	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	-	0	70	0	T	NM_001004745		56043714	1	tier1	-	no_errors	ENST00000313033	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.004	C	C	56043714	T	C	56043714	2	2	82	1	0	0	0	0	0	0	0	1	11220	1596	56	4		4	OR5T1	11	56043714	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	245011	56043714	78962802	183	21754											
OR10Q1	219960	genome.wustl.edu	37	chr11	57996159	57996159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttggacaggaagaaataCatcggggtgcggagggtgct	11	7	18	5	2	0	1	0	0	0	1	1	4	0	4	0	7	3	2	0	7	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:57996159C>T	ENST00000316770.2	-	1	231	c.189G>A	c.(187-189)atG>atA	p.M63I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGAAGAAATACATCGGGGTGC	0.522																																																	0													101	103	103					11																	57996159		2201	4295	6496	SO:0001583	missense	0			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"GPCR / Class A : Olfactory receptors"	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.189G>A	11.37:g.57996159C>T	ENSP00000314324:p.Met63Ile		Q6IFG4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M63I	ENST00000316770.2	37	c.189	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589055	0.46110	.	.	ENSG00000180475	ENST00000316770	T	0.09350	2.99	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000083	T	0.48114	0.1482	H	0.96805	3.885	0.34865	D	0.743069	D	0.65815	0.995	D	0.75020	0.985	T	0.74153	-0.3757	10	0.72032	D	0.01	.	16.8854	0.86074	0.0:1.0:0.0:0.0	.	63	Q8NGQ4	O10Q1_HUMAN	I	63	ENSP00000314324:M63I	ENSP00000314324:M63I	M	-	3	0	OR10Q1	57752735	1.000000	0.71417	0.976000	0.42696	0.014000	0.08584	4.688000	0.61715	2.430000	0.82344	0.557000	0.71058	ATG	OR10Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180475		0.522	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1		0	34	0	C	NM_001004471		57996159	-1			no_errors	ENST00000316770	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T	T	57996159	C	T	57996159	3	4	82	1	0	0	0	0	1	0	0	0	10955	478	17	3	774	3	OR10Q1	11	57996159	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1952445	57996159	77010357	184	21755											
CD5	921	genome.wustl.edu	37	chr11	60885646	60885646	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacacctttctgacccccaGatttccaggcaaggctcacc	9	8	6	18	0	2	2	1	1	1	1	3	2	3	2	6	2	0	2	6	2	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:60885646G>A	ENST00000347785.3	+	3	260		c.e3-1			NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule						apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGACCCCCAGATTTCCAGGC	0.637																																																	1	Unknown(1)	lung(1)											81	86	84					11																	60885646		2203	4299	6502	SO:0001630	splice_region_variant	0			X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"CD molecules"	1685	protein-coding gene	gene with protein product		153340	"CD5 antigen (p56-62)"	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.95-1G>A	11.37:g.60885646G>A			A0N0P4|A8K9I3	Splice_Site	SNP	-	e3-1	ENST00000347785.3	37	c.95-1	CCDS8000.1	11	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838430	0.32513	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4784	0.50312	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD5	60642222	0.994000	0.37717	0.220000	0.23810	0.157000	0.22087	4.078000	0.57606	2.424000	0.82194	0.561000	0.74099	.	CD5	-	-	ENSG00000110448		0.637	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5	HGNC	protein_coding	OTTHUMT00000396465.2		0	58	0	G	NM_014207	Intron	60885646	1			no_errors	ENST00000347785	ensembl	human	known	74_37	splice_site	5.00	38	2	SNP	0.234	A	A	60885646	G	A	60885646	5	1	82	1	0	0	0	0	0	0	1	0	3028	956	33	3	104	3	CD5	11	60885646	Splice_Site	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2889487	60885646	74120870	185	21756											
OTUB1	55611	genome.wustl.edu	37	chr11	63764925	63764925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatggaccgcggcgagggCggcaccaccaatccgcacat	10	4	12	15	5	0	0	0	0	0	0	1	2	1	1	4	4	1	2	4	4	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:63764925C>T	ENST00000538426.1	+	7	767	c.723C>T	c.(721-723)ggC>ggT	p.G241G	OTUB1_ENST00000541478.1_Silent_p.G140G|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000543004.1_Silent_p.G250G|OTUB1_ENST00000543988.1_Silent_p.G211G|OTUB1_ENST00000428192.2_Silent_p.G241G|OTUB1_ENST00000422031.2_Silent_p.G278G	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	241	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GCGGCGAGGGCGGCACCACCA	0.612																																																	0													115	106	109					11																	63764925		2201	4297	6498	SO:0001819	synonymous_variant	0			AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"OTU domain containing"	23077	protein-coding gene	gene with protein product		608337	"OTU domain, ubiquitin aldehyde binding 1"			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.723C>T	11.37:g.63764925C>T			Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Silent	SNP	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	p.G278	ENST00000538426.1	37	c.834	CCDS8055.1	11																																																																																			OTUB1	-	pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	ENSG00000167770		0.612	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUB1	HGNC	protein_coding	OTTHUMT00000396277.1	-	0	40	0	C	NM_017670		63764925	1	tier1	-	no_errors	ENST00000422031	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.998	T	T	63764925	C	T	63764925	2	4	82	1	0	0	0	0	0	0	0	1	11350	755	27	1		1	OTUB1	11	63764925	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2879279	63764925	71241591	186	21757											
RNF169	254225	genome.wustl.edu	37	chr11	74500713	74500713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattaagcaagcctggggAacttcgtgaggaatatgaaa	16	8	11	6	1	0	2	0	2	0	0	1	4	0	4	1	3	3	1	1	3	7	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:74500713A>G	ENST00000299563.4	+	2	558	c.545A>G	c.(544-546)gAa>gGa	p.E182G		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	182					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AAGCCTGGGGAACTTCGTGAG	0.333																																																	0													100	93	95					11																	74500713		1800	4065	5865	SO:0001583	missense	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.545A>G	11.37:g.74500713A>G	ENSP00000299563:p.Glu182Gly		Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E182G	ENST00000299563.4	37	c.545	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964268	0.74131	.	.	ENSG00000166439	ENST00000299563	T	0.62105	0.05	4.79	4.79	0.61399	.	0.204155	0.32655	N	0.005802	T	0.72787	0.3504	M	0.70595	2.14	0.43099	D	0.994781	D	0.64830	0.994	P	0.59115	0.852	T	0.76860	-0.2803	10	0.87932	D	0	-18.3873	11.0248	0.47739	1.0:0.0:0.0:0.0	.	182	Q8NCN4	RN169_HUMAN	G	182	ENSP00000299563:E182G	ENSP00000299563:E182G	E	+	2	0	RNF169	74178361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.691000	0.54720	1.898000	0.54952	0.533000	0.62120	GAA	RNF169	-	NULL	ENSG00000166439		0.333	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1	-	0	46	0	A	XM_495886		74500713	1	tier1	-	no_errors	ENST00000299563	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	G	G	74500713	A	G	74500713	3	3	82	1	0	0	0	0	1	0	0	0	13505	246	9	4	551	4	RNF169	11	74500713	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	10735788	74500713	60505803	187	21758											
NOX4	50507	genome.wustl.edu	37	chr11	89075351	89075351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggacttccaaaaggaccatCaatatacagcctgtagagca	15	8	8	10	0	1	1	1	0	0	1	2	3	2	3	3	2	3	2	3	2	6	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:89075351C>T	ENST00000263317.4	-	14	1466	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	NOX4_ENST00000535633.1_Missense_Mutation_p.D386N|NOX4_ENST00000532825.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.D244N|NOX4_ENST00000424319.1_Missense_Mutation_p.D386N|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.D431N|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.D386N|NOX4_ENST00000375979.3_Missense_Mutation_p.D103N|NOX4_ENST00000534731.1_Intron|NOX4_ENST00000343727.5_Missense_Mutation_p.D386N|NOX4_ENST00000542487.1_Missense_Mutation_p.D386N|NOX4_ENST00000528341.1_Missense_Mutation_p.D385N			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	410	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAAGGACCATCAATATACAGC	0.393																																																	0													66	63	64					11																	89075351		2201	4299	6500	SO:0001583	missense	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1228G>A	11.37:g.89075351C>T	ENSP00000263317:p.Asp410Asn		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.D431N	ENST00000263317.4	37	c.1291	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756740	0.89843	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000263317;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000375979	D;D;D;D;D;D;D;D;D;D	0.94723	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.5	5.18	5.18	0.71444	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.997;0.998;0.986	D	0.96430	0.9318	9	.	.	.	-13.7589	18.2829	0.90104	0.0:1.0:0.0:0.0	.	244;385;103;410	E9PR43;E9PPP2;Q9NPH5-4;Q9NPH5	.;.;.;NOX4_HUMAN	N	386;386;386;410;386;386;244;385;431;103	ENSP00000412446:D386N;ENSP00000440172:D386N;ENSP00000344747:D386N;ENSP00000263317:D410N;ENSP00000433797:D386N;ENSP00000439373:D386N;ENSP00000436093:D244N;ENSP00000436970:D385N;ENSP00000405705:D431N;ENSP00000365146:D103N	.	D	-	1	0	NOX4	88714999	1.000000	0.71417	0.990000	0.47175	0.741000	0.42261	7.173000	0.77612	2.403000	0.81681	0.462000	0.41574	GAT	NOX4	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	ENSG00000086991		0.393	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	-	0	86	0	C	NM_016931		89075351	-1	tier1	-	no_errors	ENST00000413594	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	T	T	89075351	C	T	89075351	3	4	82	1	0	0	0	0	1	0	0	0	10597	826	29	3	528	3	NOX4	11	89075351	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	14574638	89075351	45931165	188	21759											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103104821	103104821	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtaagcaaggcacaaGaaacaatcaaagctgcagaa	20	4	9	8	0	1	3	1	1	0	2	1	3	1	3	0	1	4	5	0	1	8	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:103104821G>T	ENST00000375735.2	+	61	9643	c.9499G>T	c.(9499-9501)Gaa>Taa	p.E3167*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E3167*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3167	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAAGGCACAAGAAACAATCAA	0.383																																																	0													52	50	51					11																	103104821		1841	4089	5930	SO:0001587	stop_gained	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.9499G>T	11.37:g.103104821G>T	ENSP00000364887:p.Glu3167*		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3167*	ENST00000375735.2	37	c.9499	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	51	17.472987	0.99887	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	5.31	5.31	0.75309	.	0.180499	0.49305	D	0.000156	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1358	0.59409	0.084:0.0:0.916:0.0	.	.	.	.	X	3167	.	ENSP00000364887:E3167X	E	+	1	0	DYNC2H1	102610031	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	5.605000	0.67634	2.645000	0.89757	0.585000	0.79938	GAA	DYNC2H1	-	NULL	ENSG00000187240		0.383	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	68	0	G	XM_370652		103104821	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	nonsense	7.94	58	5	SNP	0.995	T	T	103104821	G	T	103104821	4	4	82	1	0	0	0	0	0	1	0	0	4860	943	33	3	9741	3	DYNC2H1	11	103104821	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	14029470	103104821	31901695	189	21760											
RDX	5962	genome.wustl.edu	37	chr11	110143263	110143263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgcagtgtaatacctGgtcaaaaagttgtttgccag	11	14	9	7	0	2	0	2	0	0	0	2	0	2	0	2	1	3	4	2	1	4	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:110143263G>T	ENST00000343115.4	-	3	413	c.94C>A	c.(94-96)Cag>Aag	p.Q32K	RDX_ENST00000544551.1_Silent_p.T19T|RDX_ENST00000405097.1_Missense_Mutation_p.Q32K|RDX_ENST00000528498.1_Missense_Mutation_p.Q32K|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Missense_Mutation_p.Q32K	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	32	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGTAATACCTGGTCAAAAAGT	0.363																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													114	95	101					11																	110143263		2201	4298	6499	SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.94C>A	11.37:g.110143263G>T	ENSP00000342830:p.Gln32Lys		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.Q32K	ENST00000343115.4	37	c.94	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214080	0.79352	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000530301;ENST00000343115;ENST00000532118;ENST00000533991	T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.95	4.95	0.65309	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.122924	0.64402	D	0.000020	T	0.82148	0.4974	M	0.72576	2.205	0.80722	D	1	P;P;B	0.43938	0.784;0.822;0.188	P;P;B	0.48952	0.54;0.596;0.131	T	0.79427	-0.1808	10	0.23302	T	0.38	.	18.3697	0.90402	0.0:0.0:1.0:0.0	.	32;32;32	A7YIK0;A7YIJ8;P35241	.;.;RADI_HUMAN	K	32;32;32;32;32;21;21	ENSP00000432112:Q32K;ENSP00000384136:Q32K;ENSP00000436277:Q32K;ENSP00000342830:Q32K;ENSP00000437140:Q21K;ENSP00000432572:Q21K	ENSP00000342830:Q32K	Q	-	1	0	RDX	109648473	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.153000	0.94687	2.570000	0.86706	0.655000	0.94253	CAG	RDX	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain	ENSG00000137710		0.363	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	-	0	45	0	G	NM_002906		110143263	-1	tier1	-	no_errors	ENST00000530749	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	110143263	G	T	110143263	3	4	82	1	0	0	0	0	1	0	0	0	13243	1357	47	3	1705	3	RDX	11	110143263	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7038442	110143263	24863253	190	21761											
FAM55A	120400	genome.wustl.edu	37	chr11	114392979	114392979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaacaccgatggccctgCgaataaaaatgtcaatggga	14	9	10	8	2	1	1	1	1	0	0	1	4	1	2	2	2	2	0	2	2	6	2	rs201047483		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:114392979C>T	ENST00000424269.1	-	5	1354	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	NXPE1_ENST00000251921.2_Missense_Mutation_p.R310H|NXPE1_ENST00000536271.1_Missense_Mutation_p.R168H			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	452						extracellular region (GO:0005576)											GATGGCCCTGCGAATAAAAAT	0.443																																																	0													125	116	119					11																	114392979		2201	4296	6497	SO:0001583	missense	0			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"family with sequence similarity 55, member A"	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1355G>A	11.37:g.114392979C>T	ENSP00000411690:p.Arg452His		B0YJ13	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.R452H	ENST00000424269.1	37	c.1355		11	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891960	0.33442	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.28255	1.62;1.62;1.62	4.44	1.44	0.22558	.	0.086453	0.46758	N	0.000267	T	0.33235	0.0856	M	0.79614	2.46	0.30055	N	0.811373	P	0.45827	0.867	P	0.45406	0.479	T	0.25047	-1.0143	10	0.30078	T	0.28	.	5.8178	0.18506	0.155:0.6676:0.0:0.1775	.	452	Q8N323	FA55A_HUMAN	H	168;310;452	ENSP00000445200:R168H;ENSP00000251921:R310H;ENSP00000411690:R452H	ENSP00000251921:R310H	R	-	2	0	FAM55A	113898189	0.003000	0.15002	0.006000	0.13384	0.496000	0.33645	0.702000	0.25631	0.181000	0.19994	0.650000	0.86243	CGC	NXPE1	-	NULL	ENSG00000095110		0.443	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	HGNC	protein_coding			0	69	0	C	NM_152315		114392979	-1			no_errors	ENST00000424269	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.955	T	T	114392979	C	T	114392979	3	4	82	1	0	0	0	0	1	0	0	0	5606	768	27	1	292	1	FAM55A	11	114392979	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	4249716	114392979	20613537	191	21762											
AMICA1	120425	genome.wustl.edu	37	chr11	118083141	118083141	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcgtgctctcctggtGacagagtccagtctatcttg	5	13	11	12	1	3	2	0	1	3	1	5	2	4	2	3	2	1	1	3	2	1	3	rs377011204		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:118083141G>T	ENST00000356289.5	-	3	352	c.179C>A	c.(178-180)tCa>tAa	p.S60*	AMICA1_ENST00000533261.1_Nonsense_Mutation_p.S60*|AMICA1_ENST00000526620.1_Nonsense_Mutation_p.S21*|AMICA1_ENST00000292067.7_Nonsense_Mutation_p.S50*	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	60	Ig-like V-type 1.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCTCCTGGTGACAGAGTCCA	0.502																																																	0													120	108	112					11																	118083141		2200	4296	6496	SO:0001587	stop_gained	0			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"Immunoglobulin superfamily / V-set domain containing"	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.179C>A	11.37:g.118083141G>T	ENSP00000348635:p.Ser60*		B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S60*	ENST00000356289.5	37	c.179	CCDS41723.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.163195	0.97338	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867;ENST00000524477;ENST00000525565	.	.	.	5.25	4.35	0.52113	.	0.000000	0.39615	N	0.001320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-13.3033	9.6377	0.39819	0.0932:0.0:0.9068:0.0	.	.	.	.	X	60;50;60;21;21;21;60	.	ENSP00000292067:S50X	S	-	2	0	AMICA1	117588351	0.971000	0.33674	0.025000	0.17156	0.002000	0.02628	4.235000	0.58666	1.452000	0.47756	0.655000	0.94253	TCA	AMICA1	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000160593		0.502	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMICA1	HGNC	protein_coding	OTTHUMT00000392105.2		0	67	0	G	NM_153206		118083141	-1			no_errors	ENST00000356289	ensembl	human	known	74_37	nonsense	10.26	35	4	SNP	0.064	T	T	118083141	G	T	118083141	4	4	82	1	0	0	0	0	0	1	0	0	574	1294	45	3	1037	3	AMICA1	11	118083141	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3690162	118083141	16923375	192	21763											
GRIK4	2900	genome.wustl.edu	37	chr11	120827629	120827629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctccaccatcgcccctcGcgccttatccacccgctgtg	5	8	8	20	4	0	0	0	0	0	0	4	0	2	0	7	1	0	2	7	1	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:120827629G>A	ENST00000527524.2	+	16	2128	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R614H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	614					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ATCGCCCCTCGCGCCTTATCC	0.642																																																	0													49	39	42					11																	120827629		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1841G>A	11.37:g.120827629G>A	ENSP00000435648:p.Arg614His		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R614H	ENST00000527524.2	37	c.1841	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770367	0.90108	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.57752	0.38;0.38	4.96	4.96	0.65561	Ionotropic glutamate receptor (2);	0.049659	0.85682	D	0.000000	T	0.69333	0.3099	M	0.68593	2.085	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.72384	-0.4310	10	0.87932	D	0	.	13.0023	0.58683	0.0806:0.0:0.9194:0.0	.	614;614	A6H8K8;Q16099	.;GRIK4_HUMAN	H	614	ENSP00000435648:R614H;ENSP00000404063:R614H	ENSP00000404063:R614H	R	+	2	0	GRIK4	120332839	1.000000	0.71417	0.401000	0.26359	0.976000	0.68499	6.705000	0.74644	2.458000	0.83093	0.655000	0.94253	CGC	GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.642	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	94	0	G	NM_014619		120827629	1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.980	A	A	120827629	G	A	120827629	3	1	82	1	0	0	0	0	1	0	0	0	6803	1087	38	1	1895	1	GRIK4	11	120827629	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2744488	120827629	14178887	193	21764											
FLI1	2313	genome.wustl.edu	37	chr11	128680809	128680809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggacctcccccacggggGgaatctaccccaaccccaac	10	4	8	19	1	1	0	0	0	1	0	2	2	2	2	7	4	3	0	7	4	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:128680809G>C	ENST00000527786.2	+	9	1774	c.1285G>C	c.(1285-1287)Gga>Cga	p.G429R	FLI1_ENST00000534087.2_Missense_Mutation_p.G396R|FLI1_ENST00000525560.1_Missense_Mutation_p.G236R|FLI1_ENST00000344954.6_Missense_Mutation_p.G396R|FLI1_ENST00000281428.8_Missense_Mutation_p.G363R	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	429					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G429R(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCCCACGGGGGGAATCTACCC	0.562			T	EWSR1	Ewing sarcoma																																			Dom	yes		11	11q24	2313	Friend leukemia virus integration 1		M	1	Substitution - Missense(1)	lung(1)											105	107	106					11																	128680809		1973	4153	6126	SO:0001583	missense	0			M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"Friend leukemia virus integration 1"			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.1285G>C	11.37:g.128680809G>C	ENSP00000433488:p.Gly429Arg		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.G429R	ENST00000527786.2	37	c.1285	CCDS44768.1	11	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349805	0.41599	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.22743	1.94;2.54;2.54;2.54;2.54	5.46	5.46	0.80206	.	0.144785	0.64402	D	0.000006	T	0.21022	0.0506	L	0.44542	1.39	0.50313	D	0.999866	P;B;P	0.40602	0.554;0.282;0.723	B;B;B	0.44224	0.258;0.138;0.444	T	0.01159	-1.1433	10	0.59425	D	0.04	.	6.577	0.22573	0.2015:0.0:0.7985:0.0	.	429;236;363	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	R	236;396;429;396;363	ENSP00000437124:G236R;ENSP00000339627:G396R;ENSP00000399985:G429R;ENSP00000432950:G396R;ENSP00000281428:G363R	ENSP00000281428:G363R	G	+	1	0	FLI1	128186019	1.000000	0.71417	0.335000	0.25508	0.985000	0.73830	6.055000	0.71103	2.840000	0.97914	0.655000	0.94253	GGA	FLI1	-	NULL	ENSG00000151702		0.562	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLI1	HGNC	protein_coding	OTTHUMT00000386226.2		0	37	0	G	NM_002017		128680809	1			no_errors	ENST00000527786	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.946	C	C	128680809	G	C	128680809	3	2	82	1	0	0	0	0	1	0	0	0	5946	1233	43	5	1319	5	FLI1	11	128680809	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7853180	128680809	6325707	194	21765											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128844193	128844193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catctttactatctgggtggGggatctatttgtggcatccc	6	15	11	9	0	3	0	0	0	3	0	4	1	4	1	1	4	1	1	1	4	3	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr11:128844193G>T	ENST00000310343.9	-	20	2856	c.2857C>A	c.(2857-2859)Ccc>Acc	p.P953T	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.P879T|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P604T|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P604T	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	953					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTGGGTGGGGGATCTATTT	0.458																																																	0													215	216	216					11																	128844193		2201	4297	6498	SO:0001583	missense	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2857C>A	11.37:g.128844193G>T	ENSP00000310561:p.Pro953Thr		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.P953T	ENST00000310343.9	37	c.2857	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882632	0.33255	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.61	4.7	0.59300	.	0.190997	0.44483	D	0.000456	T	0.39009	0.1062	M	0.66939	2.045	0.35316	D	0.784371	B;D	0.89917	0.19;1.0	B;D	0.78314	0.063;0.991	T	0.54873	-0.8228	10	0.72032	D	0.01	.	12.8875	0.58053	0.0753:0.0:0.9247:0.0	.	887;953	Q86T64;A7KAX9	.;RHG32_HUMAN	T	953;604;879;887;604	ENSP00000310561:P953T;ENSP00000376425:P604T;ENSP00000432468:P879T;ENSP00000432862:P604T	ENSP00000310561:P953T	P	-	1	0	ARHGAP32	128349403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.701000	0.61810	1.500000	0.48636	0.655000	0.94253	CCC	ARHGAP32	-	NULL	ENSG00000134909		0.458	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3		0	41	0	G	NM_014715		128844193	-1			no_errors	ENST00000310343	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	128844193	G	T	128844193	3	4	82	1	0	0	0	0	1	0	0	0	881	1232	43	3	3418	3	ARHGAP32	11	128844193	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	163384	128844193	6162323	195	21766											
CLSTN3	9746	genome.wustl.edu	37	chr12	7301683	7301683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcattttgcccgcccaGctgtggactttgagggaacc	6	11	11	13	1	1	1	1	1	0	0	1	3	1	3	3	2	4	2	3	2	1	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:7301683G>A	ENST00000266546.6	+	13	2413	c.1963G>A	c.(1963-1965)Gct>Act	p.A655T	CLSTN3_ENST00000537408.1_Missense_Mutation_p.A667T	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	655					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCCCGCCCAGCTGTGGACTT	0.572																																																	0													81	67	71					12																	7301683		2203	4300	6503	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1963G>A	12.37:g.7301683G>A	ENSP00000266546:p.Ala655Thr		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A655T	ENST00000266546.6	37	c.1963	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.058284	0.93846	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.39229	1.09;1.09	5.71	4.82	0.62117	.	0.172000	0.50627	N	0.000106	T	0.57125	0.2032	M	0.64997	1.995	0.58432	D	0.999996	P;D	0.58268	0.675;0.982	B;P	0.59288	0.173;0.855	T	0.59467	-0.7449	10	0.51188	T	0.08	-7.1171	14.6135	0.68531	0.07:0.0:0.93:0.0	.	667;655	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	T	655;667	ENSP00000266546:A655T;ENSP00000440679:A667T	ENSP00000266546:A655T	A	+	1	0	CLSTN3	7192950	1.000000	0.71417	0.927000	0.36925	0.803000	0.45373	6.676000	0.74498	1.413000	0.46997	0.561000	0.74099	GCT	CLSTN3	-	NULL	ENSG00000139182		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2		0	47	0	G	NM_014718		7301683	1			no_errors	ENST00000266546	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.998	A	A	7301683	G	A	7301683	3	1	82	1	0	0	0	0	1	0	0	0	3570	971	34	3	2013	3	CLSTN3	12	7301683	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		7301683	126550212	196	21767											
NECAP1	25977	genome.wustl.edu	37	chr12	8248680	8248680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccatccaactgggtccaGttctgaatggcattggcagg	9	9	12	11	0	1	1	0	1	1	0	3	1	3	1	3	4	2	3	3	4	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:8248680G>T	ENST00000339754.5	+	8	900	c.822G>T	c.(820-822)caG>caT	p.Q274H		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	274					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		ACTGGGTCCAGTTCTGAATGG	0.468																																																	0													108	98	101					12																	8248680		2203	4300	6503	SO:0001583	missense	0			AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.822G>T	12.37:g.8248680G>T	ENSP00000341737:p.Gln274His		Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Missense_Mutation	SNP	pfam_NECAP-1	p.Q274H	ENST00000339754.5	37	c.822	CCDS8589.1	12	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370375	0.61624	.	.	ENSG00000089818	ENST00000545179;ENST00000339754;ENST00000540291	T	0.35789	1.29	4.75	3.85	0.44370	.	0.064020	0.64402	D	0.000005	T	0.56601	0.1996	M	0.77616	2.38	0.51233	D	0.999911	D	0.76494	0.999	D	0.69142	0.962	T	0.60530	-0.7245	10	0.87932	D	0	.	10.7073	0.45962	0.0949:0.0:0.9051:0.0	.	274	Q8NC96	NECP1_HUMAN	H	274;274;132	ENSP00000341737:Q274H	ENSP00000341737:Q274H	Q	+	3	2	NECAP1	8139947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.027000	0.64109	2.608000	0.88229	0.650000	0.86243	CAG	NECAP1	-	NULL	ENSG00000089818		0.468	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAP1	HGNC	protein_coding	OTTHUMT00000400244.1	-	0	56	0	G	NM_015509		8248680	1	tier1	-	no_errors	ENST00000339754	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	8248680	G	T	8248680	3	4	82	1	0	0	0	0	1	0	0	0	10346	1020	36	3	852	3	NECAP1	12	8248680	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	946997	8248680	125603215	197	21768											
ERP27	121506	genome.wustl.edu	37	chr12	15068588	15068588	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatcaccttcccattttcTttcataccactgtccaccag	9	14	3	15	0	3	0	2	0	1	0	5	1	5	0	5	0	1	0	5	0	2	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:15068588T>G	ENST00000266397.2	-	6	1182	c.609A>C	c.(607-609)aaA>aaC	p.K203N	ERP27_ENST00000540097.1_Missense_Mutation_p.K102N|ERP27_ENST00000544881.1_5'UTR	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	203						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TCCCATTTTCTTTCATACCAC	0.418																																																	0													73	70	71					12																	15068588		2203	4300	6503	SO:0001583	missense	0			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"Protein disulfide isomerases"	26495	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 8"	610642	"chromosome 12 open reading frame 46", "endoplasmic reticulum protein 27 kDa"	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.609A>C	12.37:g.15068588T>G	ENSP00000266397:p.Lys203Asn			Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold	p.K203N	ENST00000266397.2	37	c.609	CCDS8670.1	12	.	.	.	.	.	.	.	.	.	.	T	12.37	1.918012	0.33815	.	.	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.46451	1.87;0.87	4.79	1.98	0.26296	Thioredoxin-like fold (1);	0.207707	0.48767	D	0.000163	T	0.42086	0.1187	L	0.55481	1.735	0.09310	N	1	P	0.51147	0.942	P	0.49999	0.628	T	0.23547	-1.0185	10	0.52906	T	0.07	-0.2546	6.4796	0.22055	0.0:0.6953:0.0:0.3047	.	203	Q96DN0	ERP27_HUMAN	N	203;102	ENSP00000266397:K203N;ENSP00000440573:K102N	ENSP00000266397:K203N	K	-	3	2	ERP27	14959855	0.341000	0.24801	0.003000	0.11579	0.284000	0.27059	1.133000	0.31430	0.475000	0.27415	-0.242000	0.12053	AAA	ERP27	-	superfamily_Thioredoxin-like_fold	ENSG00000139055		0.418	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	-	0	76	0	T	NM_152321		15068588	-1	tier1	-	no_errors	ENST00000266397	ensembl	human	known	74_37	missense	30.51	41	18	SNP	0.004	G	G	15068588	T	G	15068588	3	3	82	1	0	0	0	0	1	0	0	0	5257	1606	56	4	220	4	ERP27	12	15068588	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	6819908	15068588	118783307	198	21769											
RECQL	5965	genome.wustl.edu	37	chr12	21636458	21636458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtcacataaatcagcttTaactcggagtttttatttac	12	15	7	7	1	2	0	2	0	0	0	3	2	2	2	0	2	3	2	0	2	5	8			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:21636458T>G	ENST00000444129.2	-	6	1020	c.552A>C	c.(550-552)ttA>ttC	p.L184F	RECQL_ENST00000421138.2_Missense_Mutation_p.L184F	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	184	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AAATCAGCTTTAACTCGGAGT	0.333								Other identified genes with known or suspected DNA repair function																																									0													115	104	108					12																	21636458		2203	4300	6503	SO:0001583	missense	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.552A>C	12.37:g.21636458T>G	ENSP00000416739:p.Leu184Phe		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L184F	ENST00000444129.2	37	c.552	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807556	0.31961	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	4.67	-0.512	0.11966	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.126802	0.53938	D	0.000046	T	0.17023	0.0409	L	0.46157	1.445	0.38982	D	0.958964	P	0.36065	0.535	P	0.45856	0.495	T	0.08953	-1.0697	10	0.28530	T	0.3	0.033	6.0397	0.19728	0.0:0.3847:0.1409:0.4744	.	184	P46063	RECQ1_HUMAN	F	184	ENSP00000416739:L184F;ENSP00000395449:L184F;ENSP00000379400:L184F;ENSP00000318727:L184F	ENSP00000318727:L184F	L	-	3	2	RECQL	21527725	0.995000	0.38212	0.846000	0.33378	0.984000	0.73092	0.219000	0.17641	0.008000	0.14787	0.460000	0.39030	TTA	RECQL	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000004700		0.333	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	-	0	78	0	T	NM_002907		21636458	-1	tier1	-	no_errors	ENST00000421138	ensembl	human	known	74_37	missense	13.11	53	8	SNP	0.995	G	G	21636458	T	G	21636458	3	3	82	1	0	0	0	0	1	0	0	0	13246	1751	61	4	1437	4	RECQL	12	21636458	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	6567870	21636458	112215437	199	21770											
KCNJ8	3764	genome.wustl.edu	37	chr12	21919003	21919003	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctcagcaatgtaggaggttCgtgcttgtgtggtgatgcca	7	12	14	8	1	1	1	1	1	0	0	2	2	1	2	2	3	3	4	2	3	2	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:21919003C>G	ENST00000240662.2	-	3	1274	c.929G>C	c.(928-930)cGa>cCa	p.R310P	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	310					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GTAGGAGGTTCGTGCTTGTGT	0.483																																																	0													99	83	88					12																	21919003		2203	4300	6503	SO:0001583	missense	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.929G>C	12.37:g.21919003C>G	ENSP00000240662:p.Arg310Pro		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.R310P	ENST00000240662.2	37	c.929	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513973	0.85389	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.94897	-3.55	5.35	5.35	0.76521	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	10	0.87932	D	0	.	19.2644	0.93980	0.0:1.0:0.0:0.0	.	310	Q15842	IRK8_HUMAN	P	310	ENSP00000240662:R310P	ENSP00000240662:R310P	R	-	2	0	KCNJ8	21810270	1.000000	0.71417	0.840000	0.33206	0.998000	0.95712	7.638000	0.83328	2.782000	0.95742	0.563000	0.77884	CGA	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir	ENSG00000121361		0.483	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	-	0	50	0	C	NM_004982		21919003	-1	tier1	-	no_errors	ENST00000240662	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.997	G	G	21919003	C	G	21919003	3	3	82	1	0	0	0	0	1	0	0	0	8083	884	31	5	349	5	KCNJ8	12	21919003	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	282545	21919003	111932892	200	21771											
IPO8	10526	genome.wustl.edu	37	chr12	30789961	30789961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttgaacgatcttcccGgtttaccagttgtctagtag	7	16	9	9	2	2	1	0	1	2	0	3	2	3	1	2	1	3	4	2	1	4	8	rs376809979		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:30789961G>A	ENST00000256079.4	-	22	2988	c.2650C>T	c.(2650-2652)Cgg>Tgg	p.R884W	IPO8_ENST00000544829.1_Missense_Mutation_p.R679W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	884					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CGATCTTCCCGGTTTACCAGT	0.393																																																	0								G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	110	103	105		2035,2650	3.2	0	12		105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IPO8	NM_001190995.1,NM_006390.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	679/833,884/1038	30789961	1,13005	2203	4300	6503	SO:0001583	missense	0			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"Importins"	9853	protein-coding gene	gene with protein product		605600	"RAN binding protein 8"	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2650C>T	12.37:g.30789961G>A	ENSP00000256079:p.Arg884Trp		B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.R884W	ENST00000256079.4	37	c.2650	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	G	9.904	1.207689	0.22205	0.0	1.16E-4	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.68025	-0.3;-0.3	5.06	3.22	0.36961	Armadillo-type fold (1);	0.335945	0.33382	N	0.004964	T	0.49983	0.1589	N	0.08118	0	0.32483	N	0.541247	D;D;P	0.63880	0.967;0.993;0.877	B;P;B	0.47376	0.289;0.545;0.121	T	0.62923	-0.6751	10	0.72032	D	0.01	-4.3399	10.3483	0.43920	0.0709:0.0:0.7943:0.1347	.	679;360;884	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	W	884;360;679	ENSP00000256079:R884W;ENSP00000444520:R679W	ENSP00000256079:R884W	R	-	1	2	IPO8	30681228	0.965000	0.33210	0.010000	0.14722	0.011000	0.07611	1.573000	0.36472	0.640000	0.30582	-0.896000	0.02909	CGG	IPO8	-	superfamily_ARM-type_fold	ENSG00000133704		0.393	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	-	0	30	0	G	NM_006390		30789961	-1	tier1	-	no_errors	ENST00000256079	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.873	A	A	30789961	G	A	30789961	3	1	82	1	0	0	0	0	1	0	0	0	7825	1115	39	1	479	1	IPO8	12	30789961	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	8870958	30789961	103061934	201	21772											
INHBC	3626	genome.wustl.edu	37	chr12	57843760	57843760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacagcaacattgtcaaGactgacatacctgacatggt	14	8	10	9	0	1	3	1	2	0	1	1	4	1	4	1	2	3	1	1	2	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:57843760G>T	ENST00000309668.2	+	2	1141	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	338					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						ACATTGTCAAGACTGACATAC	0.562																																																	0													76	79	78					12																	57843760		2203	4300	6503	SO:0001583	missense	0				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.1014G>T	12.37:g.57843760G>T	ENSP00000308716:p.Lys338Asn		A1L3Y2	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC	p.K338N	ENST00000309668.2	37	c.1014	CCDS8938.1	12	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776884	0.70107	.	.	ENSG00000175189	ENST00000309668	T	0.63580	-0.05	4.27	3.38	0.38709	Transforming growth factor-beta, C-terminal (3);	0.049552	0.85682	D	0.000000	T	0.78329	0.4266	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80355	-0.1417	9	.	.	.	-22.9539	11.838	0.52338	0.0887:0.0:0.9113:0.0	.	338	P55103	INHBC_HUMAN	N	338	ENSP00000308716:K338N	.	K	+	3	2	INHBC	56130027	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.150000	0.50662	1.402000	0.46780	0.655000	0.94253	AAG	INHBC	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000175189		0.562	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBC	HGNC	protein_coding	OTTHUMT00000406770.1		0	40	0	G	NM_005538		57843760	1			no_errors	ENST00000309668	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	57843760	G	T	57843760	3	4	82	1	0	0	0	0	1	0	0	0	7770	933	33	3	1020	3	INHBC	12	57843760	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	27053799	57843760	76008135	202	21773											
GLI1	2735	genome.wustl.edu	37	chr12	57861915	57861915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggatggccccctgcctcggGcaccatccatttctacagtg	6	9	11	15	1	1	0	0	0	1	0	3	1	2	1	5	3	2	1	5	3	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:57861915G>A	ENST00000228682.2	+	10	1307	c.1216G>A	c.(1216-1218)Gca>Aca	p.A406T	GLI1_ENST00000543426.1_Missense_Mutation_p.A278T|GLI1_ENST00000546141.1_Missense_Mutation_p.A365T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	406					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTGCCTCGGGCACCATCCAT	0.587																																					Pancreas(157;841 1936 10503 41495 50368)												0													58	51	53					12																	57861915		2203	4300	6503	SO:0001583	missense	0				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"Zinc fingers, C2H2-type"	4317	protein-coding gene	gene with protein product		165220	"glioma-associated oncogene homolog 1 (zinc finger protein)", "glioma-associated oncogene family zinc finger 1"	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1216G>A	12.37:g.57861915G>A	ENSP00000228682:p.Ala406Thr		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A406T	ENST00000228682.2	37	c.1216	CCDS8940.1	12	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406044	0.25378	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.13089	2.72;2.62;2.69;2.69	4.42	4.42	0.53409	.	0.437824	0.19104	N	0.122626	T	0.08670	0.0215	N	0.22421	0.69	0.31803	N	0.628107	B	0.06786	0.001	B	0.09377	0.004	T	0.03587	-1.1022	10	0.36615	T	0.2	.	6.8413	0.23965	0.1916:0.0:0.8084:0.0	.	406	P08151	GLI1_HUMAN	T	278;406;365;365;278	ENSP00000437607:A278T;ENSP00000228682:A406T;ENSP00000441006:A365T;ENSP00000434408:A365T	ENSP00000228682:A406T	A	+	1	0	GLI1	56148182	0.846000	0.29590	0.974000	0.42286	0.028000	0.11728	1.745000	0.38278	2.449000	0.82847	0.655000	0.94253	GCA	GLI1	-	NULL	ENSG00000111087		0.587	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	-	0	33	0	G	NM_005269		57861915	1	tier1	-	no_errors	ENST00000228682	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.994	A	A	57861915	G	A	57861915	3	1	82	1	0	0	0	0	1	0	0	0	6463	1203	42	3	1250	3	GLI1	12	57861915	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	18155	57861915	75989980	203	21774											
C12orf61	283416	genome.wustl.edu	37	chr12	62996769	62996769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctcctgtagagctgaaCgggaattccccgaagggtgc	8	8	13	12	3	0	2	0	1	0	1	3	4	2	3	4	2	3	2	4	2	4	2	rs377607051		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:62996769C>T	ENST00000408887.2	-	1	445	c.350G>A	c.(349-351)cGt>cAt	p.R117H	RP11-631N16.2_ENST00000550290.1_RNA|MIRLET7I_ENST00000362309.1_RNA	NM_175895.3	NP_787091.1	Q8N7H1	CL061_HUMAN		117										cervix(1)|lung(2)	3			BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)		TAGAGCTGAACGGGAATTCCC	0.652																																																	0													29	32	31					12																	62996769		2203	4300	6503	SO:0001583	missense	0																														ENST00000408887.2:c.350G>A	12.37:g.62996769C>T	ENSP00000386169:p.Arg117His		B2RMN9|Q3ZCV4	Missense_Mutation	SNP	NULL	p.R117H	ENST00000408887.2	37	c.350	CCDS8964.1	12	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082440	0.36758	.	.	ENSG00000221949	ENST00000408887	.	.	.	2.04	2.04	0.26737	.	.	.	.	.	T	0.30135	0.0755	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.60286	0.872	T	0.11421	-1.0588	7	.	.	.	.	7.5997	0.28069	0.0:1.0:0.0:0.0	.	117	Q8N7H1	CL061_HUMAN	H	117	.	.	R	-	2	0	C12orf61	61283036	0.015000	0.18098	0.004000	0.12327	0.026000	0.11368	0.389000	0.20751	1.444000	0.47605	0.561000	0.74099	CGT	C12orf61	-	NULL	ENSG00000221949		0.652	C12orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf61	HGNC	protein_coding	OTTHUMT00000406740.2	-	0	76	0	C			62996769	-1	tier1	-	no_errors	ENST00000408887	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.010	T	T	62996769	C	T	62996769	3	4	82	1	0	0	0	0	1	0	0	0	1709	536	19	1	49	1	C12orf61	12	62996769	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	5134854	62996769	70855126	204	21775											
DPY19L2	283417	genome.wustl.edu	37	chr12	64062089	64062089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctacctccggctcccGggcgagggaggccccgcgcc	3	5	13	20	5	1	0	0	0	1	0	4	2	4	1	7	4	1	1	7	4	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:64062089G>A	ENST00000324472.4	-	1	268	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	29					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCCGGCTCCCGGGCGAGGGAG	0.622																																																	0													19	25	23					12																	64062089		2179	4291	6470	SO:0001583	missense	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.85C>T	12.37:g.64062089G>A	ENSP00000315988:p.Arg29Trp		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	pfam_Dpy-19	p.R29W	ENST00000324472.4	37	c.85	CCDS31851.1	12	.	.	.	.	.	.	.	.	.	.	G	4.063	0.009476	0.07912	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.40476	1.03;1.8	1.61	-0.663	0.11410	.	1.252950	0.06544	U	0.743693	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	0.999998	P	0.40107	0.703	B	0.22880	0.042	T	0.12967	-1.0527	9	.	.	.	.	3.1408	0.06455	0.0:0.5084:0.2893:0.2022	.	29	Q6NUT2	D19L2_HUMAN	W	29	ENSP00000315988:R29W;ENSP00000444932:R29W	.	R	-	1	2	DPY19L2	62348356	0.217000	0.23597	0.022000	0.16811	0.026000	0.11368	0.178000	0.16820	-0.202000	0.10268	0.195000	0.17529	CGG	DPY19L2	-	NULL	ENSG00000177990		0.622	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2		0	82	0	G	NM_173812		64062089	-1			no_errors	ENST00000324472	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.031	A	A	64062089	G	A	64062089	3	1	82	1	0	0	0	0	1	0	0	0	4755	1115	39	1	2279	1	DPY19L2	12	64062089	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1065320	64062089	69789806	205	21776											
TRHDE	29953	genome.wustl.edu	37	chr12	72666653	72666653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccccgcaccacggagcGccacatcgccgtacacaagc	10	2	10	19	6	0	0	0	0	0	0	1	2	0	1	5	1	3	2	5	1	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:72666653G>A	ENST00000261180.4	+	1	191	c.95G>A	c.(94-96)cGc>cAc	p.R32H	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	32					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCACGGAGCGCCACATCGCC	0.687																																																	0													20	14	16					12																	72666653		2192	4288	6480	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.95G>A	12.37:g.72666653G>A	ENSP00000261180:p.Arg32His		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.R32H	ENST00000261180.4	37	c.95	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008704	0.75046	.	.	ENSG00000072657	ENST00000261180	T	0.01613	4.73	5.21	3.37	0.38596	.	0.140713	0.49305	N	0.000159	T	0.01661	0.0053	N	0.24115	0.695	0.40692	D	0.982401	B	0.15473	0.013	B	0.08055	0.003	T	0.54912	-0.8222	10	0.72032	D	0.01	.	9.8296	0.40932	0.1689:0.0:0.8311:0.0	.	32	Q9UKU6	TRHDE_HUMAN	H	32	ENSP00000261180:R32H	ENSP00000261180:R32H	R	+	2	0	TRHDE	70952920	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.879000	0.48522	1.172000	0.42781	0.609000	0.83330	CGC	TRHDE	-	NULL	ENSG00000072657		0.687	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	19	0	G	NM_013381		72666653	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	A	A	72666653	G	A	72666653	3	1	82	1	0	0	0	0	1	0	0	0	16527	1087	38	1	97	1	TRHDE	12	72666653	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	8604564	72666653	61185242	206	21777											
TMTC2	160335	genome.wustl.edu	37	chr12	83290168	83290168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataccctttgttcctgccaCgaacctgtttttctatgtcg	6	16	6	13	2	1	0	0	0	1	0	3	1	2	0	4	0	3	2	4	0	3	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:83290168C>G	ENST00000321196.3	+	3	1933	c.1226C>G	c.(1225-1227)aCg>aGg	p.T409R	TMTC2_ENST00000548305.1_Missense_Mutation_p.T409R|TMTC2_ENST00000549919.1_Missense_Mutation_p.T403R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	409					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.T409R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GTTCCTGCCACGAACCTGTTT	0.418																																																	2	Substitution - Missense(2)	lung(2)											179	181	180					12																	83290168		2203	4300	6503	SO:0001583	missense	0			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1226C>G	12.37:g.83290168C>G	ENSP00000322300:p.Thr409Arg		B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T409R	ENST00000321196.3	37	c.1226	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961960	0.74016	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.42900	0.96;0.96;0.96	5.86	5.86	0.93980	.	0.045313	0.85682	D	0.000000	T	0.56601	0.1996	M	0.64997	1.995	0.80722	D	1	D;P;D	0.58970	0.971;0.933;0.984	P;P;P	0.55999	0.691;0.71;0.789	T	0.57533	-0.7795	10	0.66056	D	0.02	-14.0083	15.6552	0.77129	0.0:0.8636:0.1364:0.0	.	409;164;409	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	R	409;409;403;164	ENSP00000322300:T409R;ENSP00000448292:T409R;ENSP00000447609:T403R	ENSP00000322300:T409R	T	+	2	0	TMTC2	81814299	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.696000	0.68287	2.776000	0.95493	0.650000	0.86243	ACG	TMTC2	-	NULL	ENSG00000179104		0.418	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1		0	66	0	C	NM_152588		83290168	1			no_errors	ENST00000321196	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	G	G	83290168	C	G	83290168	3	3	82	1	0	0	0	0	1	0	0	0	16308	536	19	5	1236	5	TMTC2	12	83290168	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	10623515	83290168	50561727	207	21778											
PAH	5053	genome.wustl.edu	37	chr12	103245493	103245493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgggcaaagctgcgatctGaaaacaagggcacatgtccc	13	6	11	11	1	1	1	0	1	1	0	2	2	2	1	1	2	3	3	1	2	4	0	rs62642910		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:103245493G>A	ENST00000553106.1	-	8	1356	c.884C>T	c.(883-885)tCa>tTa	p.S295L	PAH_ENST00000307000.2_Missense_Mutation_p.S290L	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	295					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.S295*(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GCTGCGATCTGAAAACAAGGG	0.483																																																	1	Substitution - Nonsense(1)	large_intestine(1)	GRCh37	CM990998	PAH	M	rs62642910						86	82	83					12																	103245493		2203	4300	6503	SO:0001583	missense	0			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.884C>T	12.37:g.103245493G>A	ENSP00000448059:p.Ser295Leu		Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.S295L	ENST00000553106.1	37	c.884	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222379	0.79464	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99571	-6.19;-6.19	5.51	5.51	0.81932	Aromatic amino acid hydroxylase, C-terminal (3);	0.113998	0.64402	D	0.000017	D	0.98416	0.9473	N	0.05510	-0.035	0.58432	D	0.999999	P	0.45827	0.867	P	0.49332	0.607	D	0.99585	1.0974	10	0.56958	D	0.05	-10.362	19.7791	0.96410	0.0:0.0:1.0:0.0	.	295	P00439	PH4H_HUMAN	L	295;290	ENSP00000448059:S295L;ENSP00000303500:S290L	ENSP00000303500:S290L	S	-	2	0	PAH	101769623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.763000	0.94921	0.650000	0.86243	TCA	PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra	ENSG00000171759		0.483	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1		0	59	0	G			103245493	-1			no_errors	ENST00000553106	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	103245493	G	A	103245493	3	1	82	1	0	0	0	0	1	0	0	0	11433	1294	45	3	498	3	PAH	12	103245493	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	19955325	103245493	30606402	208	21779											
WSCD2	9671	genome.wustl.edu	37	chr12	108589643	108589643	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttcaaattccagcggtacTtccgccggaaacctgtgcgc	8	9	11	13	4	1	0	1	0	0	0	3	1	3	1	4	3	4	2	4	3	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:108589643T>G	ENST00000332082.4	+	3	852	c.34T>G	c.(34-36)Ttc>Gtc	p.F12V	WSCD2_ENST00000549903.1_Missense_Mutation_p.F12V|WSCD2_ENST00000547525.1_Missense_Mutation_p.F12V|WSCD2_ENST00000261400.3_Missense_Mutation_p.F12V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	12						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCAGCGGTACTTCCGCCGGAA	0.587																																																	0													62	66	65					12																	108589643		1980	4160	6140	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.34T>G	12.37:g.108589643T>G	ENSP00000331933:p.Phe12Val		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.F12V	ENST00000332082.4	37	c.34	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603849	0.87157	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.32988	1.45;1.43;1.45;1.43	5.74	5.74	0.90152	.	0.047717	0.85682	D	0.000000	T	0.31482	0.0798	M	0.66939	2.045	0.80722	D	1	P	0.39809	0.689	B	0.31442	0.13	T	0.18524	-1.0334	10	0.52906	T	0.07	-29.8352	15.1986	0.73116	0.0:0.0:0.0:1.0	.	12	Q2TBF2	WSCD2_HUMAN	V	12	ENSP00000448047:F12V;ENSP00000261400:F12V;ENSP00000331933:F12V;ENSP00000447272:F12V	ENSP00000261400:F12V	F	+	1	0	WSCD2	107113773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.863000	0.69568	2.183000	0.69458	0.533000	0.62120	TTC	WSCD2	-	NULL	ENSG00000075035		0.587	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	-	0	47	0	T	NM_014653		108589643	1	tier1	-	no_errors	ENST00000261400	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	G	G	108589643	T	G	108589643	3	3	82	1	0	0	0	0	1	0	0	0	17456	1609	56	4	36	4	WSCD2	12	108589643	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	5344150	108589643	25262252	209	21780											
RIMBP2	23504	genome.wustl.edu	37	chr12	130926745	130926745	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggtgacgcactgcacGgagatgcggtaggtgcaggc	7	7	17	10	3	0	2	0	1	0	1	0	3	0	2	0	5	4	5	0	5	1	1	rs377474816		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr12:130926745G>T	ENST00000261655.4	-	8	1264	c.1101C>A	c.(1099-1101)tcC>tcA	p.S367S	RIMBP2_ENST00000536002.1_Silent_p.S275S|RIMBP2_ENST00000535703.1_Silent_p.S275S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	367	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.S367S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCACTGCACGGAGATGCGGT	0.632																																																	1	Substitution - coding silent(1)	endometrium(1)											147	140	142					12																	130926745		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1101C>A	12.37:g.130926745G>T			Q96ID2	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.S367	ENST00000261655.4	37	c.1101	CCDS31925.1	12																																																																																			RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.632	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1		0	37	0	G	NM_015347		130926745	-1			no_errors	ENST00000261655	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.854	T	T	130926745	G	T	130926745	2	4	82	1	0	0	0	0	0	0	0	1	13408	1103	39	2		2	RIMBP2	12	130926745	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	22337102	130926745	2925150	210	21781											
N6AMT2	221143	genome.wustl.edu	37	chr13	21306195	21306195	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcaaagatgtatatcGaaaagttttctctgcacagc	14	13	6	8	1	2	1	1	0	1	1	4	2	2	1	0	0	2	3	0	0	6	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:21306195G>T	ENST00000382758.1	-	4	340	c.293C>A	c.(292-294)tCg>tAg	p.S98*	N6AMT2_ENST00000382754.4_Nonsense_Mutation_p.S98*			Q8WVE0	N6MT2_HUMAN	N-6 adenine-specific DNA methyltransferase 2 (putative)	98						extracellular vesicular exosome (GO:0070062)	methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GATGTATATCGAAAAGTTTTC	0.378																																																	0													89	91	91					13																	21306195		2203	4300	6503	SO:0001587	stop_gained	0			AK055408	CCDS9293.1	13q12.11	2006-12-14			ENSG00000150456	ENSG00000150456			27351	protein-coding gene	gene with protein product						12477932	Standard	NM_174928		Approved		uc001uno.1	Q8WVE0	OTTHUMG00000016519	ENST00000382758.1:c.293C>A	13.37:g.21306195G>T	ENSP00000372206:p.Ser98*		B5G4V1	Nonsense_Mutation	SNP	pfam_N6_adenine_Mtase-rel_euk	p.S98*	ENST00000382758.1	37	c.293	CCDS9293.1	13	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755909	0.31137	.	.	ENSG00000150456	ENST00000382758;ENST00000382754	.	.	.	5.83	4.99	0.66335	.	0.213535	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8567	0.41090	0.0695:0.0:0.7922:0.1383	.	.	.	.	X	98	.	ENSP00000372202:S98X	S	-	2	0	N6AMT2	20204195	0.986000	0.35501	0.002000	0.10522	0.001000	0.01503	4.906000	0.63293	1.484000	0.48361	0.563000	0.77884	TCG	N6AMT2	-	pfam_N6_adenine_Mtase-rel_euk	ENSG00000150456		0.378	N6AMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	N6AMT2	HGNC	protein_coding	OTTHUMT00000044083.1		0	49	0	G	NM_174928		21306195	-1			no_errors	ENST00000382754	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	0.040	T	T	21306195	G	T	21306195	4	4	82	1	0	0	0	0	0	1	0	0	10153	1059	37	2	359	2	N6AMT2	13	21306195	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		21306195	93863683	211	21782											
PAN3	255967	genome.wustl.edu	37	chr13	28712978	28712979	+	Frame_Shift_Del	DEL	GA	GA	-																															ataagacttgcttctacgggGaggagtgtcagttcctgcat																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:28712978_28712979delGA	ENST00000380958.3	+	1	336_337	c.184_185delGA	c.(184-186)gagfs	p.E63fs	PAN3-AS1_ENST00000563843.1_RNA|PAN3_ENST00000399613.1_5'Flank	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTTCTACGGGGAGGAGTGTCAG	0.688																																																	0																																										SO:0001589	frameshift_variant	0			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.184_185delGA	13.37:g.28712978_28712979delGA	ENSP00000370345:p.Glu63fs			Frame_Shift_Del	DEL	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom	p.E62fs	ENST00000380958.3	37	c.184_185	CCDS9329.2	13																																																																																			PAN3	-	smart_Znf_CCCH	ENSG00000152520		0.688	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4		0	81	0	GA	NM_175854		28712979	1	tier1		no_errors	ENST00000380958	ensembl	human	known	74_37	frame_shift_del	34.62	34	18	DEL	1.000:1.000	-	-	28712979	GA	-	28712978	7	5	82	1	0	1	0	1	0	0	0	0	11454	1175	41	0	186	0	PAN3	13	28712978	Frame_Shift_Del	DEL	GA	TCGA-L5-A8NH-01A-11D-A37C-09	7406783	28712978	86456900	212	21783											
HSPH1	10808	genome.wustl.edu	37	chr13	31725825	31725825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacaaaaaccactatccgaGgtttctcatccaggcttggg	12	9	8	12	1	1	0	1	0	1	0	4	1	3	0	3	3	2	2	3	3	4	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:31725825G>T	ENST00000320027.5	-	6	928	c.584C>A	c.(583-585)cCt>cAt	p.P195H	HSPH1_ENST00000380406.5_Missense_Mutation_p.P154H|HSPH1_ENST00000380405.4_Missense_Mutation_p.P195H|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000445273.2_Missense_Mutation_p.P197H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	195					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CACTATCCGAGGTTTCTCATC	0.353																																																	0													79	75	76					13																	31725825		2203	4300	6503	SO:0001583	missense	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.584C>A	13.37:g.31725825G>T	ENSP00000318687:p.Pro195His		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P197H	ENST00000320027.5	37	c.590	CCDS9340.1	13	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019456	0.93462	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000438061	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.61110	0.2321	M	0.78223	2.4	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.998;0.994;0.998	T	0.61417	-0.7067	10	0.87932	D	0	-18.0995	20.6525	0.99598	0.0:0.0:1.0:0.0	.	154;197;195;195	Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;HS105_HUMAN	H	195;195;154;197;246	ENSP00000318687:P195H;ENSP00000369768:P195H;ENSP00000369769:P154H;ENSP00000396090:P197H	ENSP00000318687:P195H	P	-	2	0	HSPH1	30623825	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.476000	0.97823	2.890000	0.99128	0.585000	0.79938	CCT	HSPH1	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000120694		0.353	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1		0	46	0	G			31725825	-1			no_errors	ENST00000445273	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	31725825	G	T	31725825	3	4	82	1	0	0	0	0	1	0	0	0	7458	1000	35	3	2044	3	HSPH1	13	31725825	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3012847	31725825	83444053	213	21784											
RFXAP	5994	genome.wustl.edu	37	chr13	37401814	37401814	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagaagtagtgcaattttTacagaaacagcaacagctat	16	10	7	8	0	0	2	0	0	0	2	1	2	1	2	1	0	6	4	1	0	7	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:37401814T>C	ENST00000255476.2	+	3	877	c.743T>C	c.(742-744)tTa>tCa	p.L248S	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	248	C-terminal domain.				positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		GTGCAATTTTTACAGAAACAG	0.333																																																	0													96	91	93					13																	37401814		2203	4300	6503	SO:0001583	missense	0			Y12812	CCDS9359.1	13q14	2014-09-17			ENSG00000133111	ENSG00000133111			9988	protein-coding gene	gene with protein product		601861				9118943	Standard	NM_000538		Approved		uc001uvu.1	O00287	OTTHUMG00000016738	ENST00000255476.2:c.743T>C	13.37:g.37401814T>C	ENSP00000255476:p.Leu248Ser		B2R9T8|Q5VZM6|Q8TC40	Missense_Mutation	SNP	NULL	p.L248S	ENST00000255476.2	37	c.743	CCDS9359.1	13	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450034	0.43531	.	.	ENSG00000133111	ENST00000255476	.	.	.	5.53	4.31	0.51392	.	0.085566	0.48286	D	0.000192	T	0.71048	0.3294	M	0.61703	1.905	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.72214	-0.4358	9	0.87932	D	0	-4.7647	10.6701	0.45753	0.1435:0.0:0.0:0.8565	.	248	O00287	RFXAP_HUMAN	S	248	.	ENSP00000255476:L248S	L	+	2	0	RFXAP	36299814	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	6.127000	0.71642	0.868000	0.35678	0.477000	0.44152	TTA	RFXAP	-	NULL	ENSG00000133111		0.333	RFXAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFXAP	HGNC	protein_coding	OTTHUMT00000044521.1	-	0	141	0	T	NM_000538		37401814	1	tier1	-	no_errors	ENST00000255476	ensembl	human	known	74_37	missense	37.14	66	39	SNP	1.000	C	C	37401814	T	C	37401814	3	2	82	1	0	0	0	0	1	0	0	0	13315	1764	61	4	753	4	RFXAP	13	37401814	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	5675989	37401814	77768064	214	21785											
WBP4	11193	genome.wustl.edu	37	chr13	41654921	41654921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatatggagaatggcaagAaattaaacaagaggttgagt	17	8	11	5	0	0	4	0	1	0	3	0	5	0	4	1	3	1	2	1	3	7	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:41654921A>G	ENST00000379487.3	+	9	1296	c.896A>G	c.(895-897)gAa>gGa	p.E299G	WBP4_ENST00000542082.1_Missense_Mutation_p.E278G	NM_007187.3	NP_009118.1	O75554	WBP4_HUMAN	WW domain binding protein 4	299					mRNA cis splicing, via spliceosome (GO:0045292)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	nucleic acid binding (GO:0003676)|proline-rich region binding (GO:0070064)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		GAATGGCAAGAAATTAAACAA	0.338																																																	0													119	119	119					13																	41654921		2203	4299	6502	SO:0001583	missense	0			AF071185	CCDS9375.1	13q13.3	2012-10-17	2012-10-17		ENSG00000120688	ENSG00000120688			12739	protein-coding gene	gene with protein product	"formin binding protein 21"	604981				9724750	Standard	NM_007187		Approved	FBP21, MGC117310	uc001uxt.3	O75554	OTTHUMG00000016784	ENST00000379487.3:c.896A>G	13.37:g.41654921A>G	ENSP00000368801:p.Glu299Gly		B7Z4M2|Q32P29	Missense_Mutation	SNP	pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin	p.E299G	ENST00000379487.3	37	c.896	CCDS9375.1	13	.	.	.	.	.	.	.	.	.	.	A	14.17	2.455210	0.43634	.	.	ENSG00000120688	ENST00000379487;ENST00000542082	.	.	.	5.64	3.22	0.36961	.	0.618297	0.17332	N	0.178083	T	0.38957	0.1060	L	0.60455	1.87	0.33090	D	0.537783	P;P	0.48764	0.58;0.915	B;B	0.39904	0.254;0.313	T	0.52563	-0.8559	9	0.37606	T	0.19	-10.4901	6.7648	0.23560	0.7682:0.154:0.0779:0.0	.	278;299	B7Z4M2;O75554	.;WBP4_HUMAN	G	299;278	.	ENSP00000368801:E299G	E	+	2	0	WBP4	40552921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.957000	0.29215	0.948000	0.37687	-0.466000	0.05196	GAA	WBP4	-	NULL	ENSG00000120688		0.338	WBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP4	HGNC	protein_coding	OTTHUMT00000044655.2	-	0	56	0	A	NM_007187		41654921	1	tier1	-	no_errors	ENST00000379487	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G	G	41654921	A	G	41654921	3	3	82	1	0	0	0	0	1	0	0	0	17310	246	9	4	930	4	WBP4	13	41654921	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	4253107	41654921	73514957	215	21786											
LRCH1	23143	genome.wustl.edu	37	chr13	47263314	47263314	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtgataatggagataagCgattatctgccaccgaggta	14	9	12	6	2	1	2	0	1	1	1	1	6	1	2	2	2	2	1	2	2	5	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:47263314C>T	ENST00000389798.3	+	7	1194	c.997C>T	c.(997-999)Cga>Tga	p.R333*	LRCH1_ENST00000311191.6_Nonsense_Mutation_p.R333*|LRCH1_ENST00000389797.3_Nonsense_Mutation_p.R333*	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	333										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGGAGATAAGCGATTATCTGC	0.358																																																	0													161	158	159					13																	47263314		2203	4300	6503	SO:0001587	stop_gained	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.997C>T	13.37:g.47263314C>T	ENSP00000374448:p.Arg333*		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.R333*	ENST00000389798.3	37	c.997	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.051979	0.97236	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929	.	.	.	5.58	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.249	14.9294	0.70903	0.144:0.856:0.0:0.0	.	.	.	.	X	333;333;333;79	.	ENSP00000308493:R333X	R	+	1	2	LRCH1	46161315	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.248000	0.43160	1.340000	0.45581	-0.182000	0.12963	CGA	LRCH1	-	NULL	ENSG00000136141		0.358	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	-	0	84	0	C	NM_015116		47263314	1	tier1	-	no_errors	ENST00000389798	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	47263314	C	T	47263314	4	4	82	1	0	0	0	0	0	1	0	0	8967	760	27	1	1023	1	LRCH1	13	47263314	Nonsense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	5608393	47263314	67906564	216	21787											
PCDH17	27253	genome.wustl.edu	37	chr13	58208354	58208354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcttgctaaggactcgggGgcgcccgcgcacttggagag	6	7	17	11	4	0	1	0	0	0	1	1	3	0	2	1	4	2	3	1	4	1	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:58208354G>A	ENST00000377918.3	+	1	1700	c.1674G>A	c.(1672-1674)ggG>ggA	p.G558G		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGGACTCGGGGGCGCCCGCGC	0.592																																					Melanoma(72;952 1291 1619 12849 33676)												0													39	41	40					13																	58208354		2203	4300	6503	SO:0001819	synonymous_variant	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"Cadherins / Protocadherins : Non-clustered"	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1674G>A	13.37:g.58208354G>A			A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G558	ENST00000377918.3	37	c.1674	CCDS31986.1	13																																																																																			PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0	40	0	G	NM_001040429		58208354	1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.991	A	A	58208354	G	A	58208354	2	1	82	1	0	0	0	0	0	0	0	1	11551	1219	43	3		3	PCDH17	13	58208354	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	10945040	58208354	56961524	217	21788											
EDNRB	1910	genome.wustl.edu	37	chr13	78492294	78492294	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagccaagctggcgatcaAgatattgggaccgtttcgca	11	8	12	10	3	1	2	1	0	0	2	2	4	1	3	2	2	2	3	2	2	3	3	rs143042375		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:78492294A>C	ENST00000334286.5	-	1	651	c.415T>G	c.(415-417)Ttg>Gtg	p.L139V	EDNRB_ENST00000377211.4_Missense_Mutation_p.L229V|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.L139V|EDNRB_ENST00000475537.1_5'Flank	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	139					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CTGGCGATCAAGATATTGGGA	0.507																																																	0								A	VAL/LEU,VAL/LEU,VAL/LEU,VAL/LEU	0,4406		0,0,2203	126	114	118		415,415,685,415	-1.9	1	13	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	EDNRB	NM_000115.3,NM_001122659.2,NM_001201397.1,NM_003991.3	32,32,32,32	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	139/443,139/443,229/533,139/437	78492294	1,13005	2203	4300	6503	SO:0001583	missense	0			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.415T>G	13.37:g.78492294A>C	ENSP00000335311:p.Leu139Val		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.L139V	ENST00000334286.5	37	c.415	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980002	0.74474	0.0	1.16E-4	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.75367	-0.93;-0.93;-0.93	5.05	-1.92	0.07618	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85695	0.5756	M	0.91090	3.175	0.48830	D	0.999714	D;P;D	0.71674	0.997;0.863;0.998	D;P;D	0.72982	0.919;0.614;0.979	D	0.85593	0.1247	10	0.54805	T	0.06	-12.599	11.6717	0.51406	0.2632:0.0:0.7368:0.0	.	139;229;139	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	V	229;139;139	ENSP00000366416:L229V;ENSP00000403401:L139V;ENSP00000335311:L139V	ENSP00000335311:L139V	L	-	1	2	EDNRB	77390295	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	2.549000	0.45803	-0.157000	0.11059	-0.256000	0.11100	TTG	EDNRB	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000136160		0.507	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1	-	0	93	0	A			78492294	-1	tier1	rs143042375	no_errors	ENST00000334286	ensembl	human	known	74_37	missense	30.77	54	24	SNP	1.000	C	C	78492294	A	C	78492294	3	2	82	1	0	0	0	0	1	0	0	0	4934	69	3	4	1062	4	EDNRB	13	78492294	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	20283940	78492294	36677584	218	21789											
SOX1	6656	genome.wustl.edu	37	chr13	112722081	112722083	+	In_Frame_Del	DEL	GGC	GGC	-																															gcggcgggggcggaggcgggGgcggcggcggcggcgggggc																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr13:112722081_112722083delGGC	ENST00000330949.1	+	1	169_171	c.109_111delGGC	c.(109-111)ggcdel	p.G43del		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	43	Poly-Gly.				chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		cggaggcgggggcggcggcggcg	0.778																																																	0										38,64,2450		12,0,14,18,28,1204						-3.4	0			3	31,94,5427		3,0,25,8,78,2662	no	codingComplex	SOX1	NM_005986.2		15,0,39,26,106,3866	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2514,3.9969,2.8011				69,158,7877				SO:0001651	inframe_deletion	0				CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"SRY (sex determining region Y)-boxes"	11189	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 1"	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.109_111delGGC	13.37:g.112722090_112722092delGGC	ENSP00000330218:p.Gly43del		Q5W0Q1	In_Frame_Del	DEL	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G40in_frame_del	ENST00000330949.1	37	c.109_111	CCDS9523.1	13																																																																																			SOX1	-	superfamily_HMG_box_dom	ENSG00000182968		0.778	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX1	HGNC	protein_coding	OTTHUMT00000045817.3		0	53	0	GGC	NM_005986		112722083	1	tier1		no_errors	ENST00000330949	ensembl	human	known	74_37	in_frame_del	6.90	27	2	DEL	0.029:0.038:0.034	-	-	112722083	GGC	-	112722081	7	5	82	1	0	1	0	1	0	0	0	0	14985	1232	43	0	111	0	SOX1	13	112722081	In_Frame_Del	DEL	GGC	TCGA-L5-A8NH-01A-11D-A37C-09	34229787	112722081	2447797	219	21790											
TGM1	7051	genome.wustl.edu	37	chr14	24727813	24727813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtccatggtaagggatGtgtctgtgtcgtgggcggag	7	11	18	5	2	1	1	0	0	1	1	3	3	2	3	1	4	0	1	1	4	1	1	rs398122905		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr14:24727813G>T	ENST00000206765.6	-	8	1349	c.1226C>A	c.(1225-1227)aCa>aAa	p.T409K	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	409					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGTAAGGGATGTGTCTGTGTC	0.577																																																	0													204	173	184					14																	24727813		2203	4300	6503	SO:0001583	missense	0			D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"Transglutaminases"	11777	protein-coding gene	gene with protein product	"K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"	190195	"transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1226C>A	14.37:g.24727813G>T	ENSP00000206765:p.Thr409Lys		B4DWR7|Q197M4	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T409K	ENST00000206765.6	37	c.1226	CCDS9622.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710057	0.68730	.	.	ENSG00000092295	ENST00000206765	D	0.87571	-2.27	5.01	5.01	0.66863	Transglutaminase-like (2);	0.173882	0.52532	D	0.000072	T	0.79233	0.4411	N	0.04203	-0.255	0.80722	D	1	P	0.52692	0.955	P	0.51701	0.677	T	0.79850	-0.1629	10	0.36615	T	0.2	-13.2631	11.5248	0.50573	0.0:0.1806:0.8194:0.0	.	409	P22735	TGM1_HUMAN	K	409	ENSP00000206765:T409K	ENSP00000206765:T409K	T	-	2	0	TGM1	23797653	0.048000	0.20356	0.960000	0.40013	0.848000	0.48234	0.341000	0.19909	2.613000	0.88420	0.561000	0.74099	ACA	TGM1	-	pfam_Transglutaminase-like,smart_Transglutaminase-like	ENSG00000092295		0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	HGNC	protein_coding	OTTHUMT00000073160.6		0	65	0	G	NM_000359		24727813	-1			no_errors	ENST00000206765	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.974	T	T	24727813	G	T	24727813	3	4	82	1	0	0	0	0	1	0	0	0	15876	1377	48	3	1259	3	TGM1	14	24727813	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		24727813	82621727	220	21791											
SPTB	6710	genome.wustl.edu	37	chr14	65237816	65237816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcatatgctgtctgcAgacgggtggccacgtcctgg	6	8	13	14	2	1	1	0	0	1	1	2	1	2	1	4	3	3	3	4	3	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr14:65237816A>G	ENST00000389721.5	-	26	5617	c.5585T>C	c.(5584-5586)cTg>cCg	p.L1862P	SPTB_ENST00000389722.3_Missense_Mutation_p.L1862P|SPTB_ENST00000542895.1_Missense_Mutation_p.L1862P|SPTB_ENST00000389720.3_Missense_Mutation_p.L1862P|SPTB_ENST00000556626.1_Missense_Mutation_p.L1862P	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1862					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCTGTCTGCAGACGGGTGGC	0.622																																																	0													119	113	115					14																	65237816		2203	4300	6503	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5585T>C	14.37:g.65237816A>G	ENSP00000374371:p.Leu1862Pro		Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1862P	ENST00000389721.5	37	c.5585	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293009	0.80914	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.80763	0.4685	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84277	0.0492	10	0.87932	D	0	.	14.2287	0.65877	1.0:0.0:0.0:0.0	.	646;1862;1866	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	P	1866;1862;646;527;1862;1862;1862;1862	ENSP00000374372:L1862P;ENSP00000451324:L527P;ENSP00000451752:L1862P;ENSP00000374371:L1862P;ENSP00000443882:L1862P;ENSP00000374370:L1862P	ENSP00000334218:L646P	L	-	2	0	SPTB	64307569	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.307000	0.96226	2.055000	0.61198	0.379000	0.24179	CTG	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.622	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	-	0	39	0	A			65237816	-1	tier1	-	no_errors	ENST00000389722	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	G	G	65237816	A	G	65237816	3	3	82	1	0	0	0	0	1	0	0	0	15165	188	7	4	1510	4	SPTB	14	65237816	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	40510003	65237816	42111724	221	21792											
PPP4R4	57718	genome.wustl.edu	37	chr14	94725670	94725671	+	Frame_Shift_Del	DEL	AG	AG	-																															gagaaagatttgttggatcaAgagaaagaaagagaagaact																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr14:94725670_94725671delAG	ENST00000304338.3	+	19	2245_2246	c.2091_2092delAG	c.(2089-2094)caagagfs	p.E698fs		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	698					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTTGGATCAAGAGAAAGAAAG	0.272																																																	0																																										SO:0001589	frameshift_variant	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.2091_2092delAG	14.37:g.94725672_94725673delAG	ENSP00000305924:p.Glu698fs		Q9BUF8|Q9HCF0	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.K699fs	ENST00000304338.3	37	c.2091_2092	CCDS9921.1	14																																																																																			PPP4R4	-	NULL	ENSG00000119698		0.272	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1		0	48	0	AG	NM_058237		94725671	1	tier1		no_errors	ENST00000304338	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000:1.000	-	-	94725671	AG	-	94725670	7	5	82	1	0	1	0	1	0	0	0	0	12447	69	3	0	2238	0	PPP4R4	14	94725670	Frame_Shift_Del	DEL	AG	TCGA-L5-A8NH-01A-11D-A37C-09	29487854	94725670	12623870	222	21793											
SLC12A6	9990	genome.wustl.edu	37	chr15	34529714	34529714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactgttgtcttctaattggGctactgtgaagatccgtatg	8	16	10	7	1	2	2	0	1	2	1	3	2	3	2	1	1	2	3	1	1	5	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:34529714G>T	ENST00000354181.3	-	22	3332	c.2840C>A	c.(2839-2841)gCc>gAc	p.A947D	SLC12A6_ENST00000397707.2_Missense_Mutation_p.A932D|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A759D|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A938D|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A896D|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A759D|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A888D|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A888D|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A947D|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A947D			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	947					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.A896V(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTCTAATTGGGCTACTGTGAA	0.443																																																	1	Substitution - Missense(1)	central_nervous_system(1)											327	249	275					15																	34529714		2201	4298	6499	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2840C>A	15.37:g.34529714G>T	ENSP00000346112:p.Ala947Asp		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A938D	ENST00000354181.3	37	c.2813	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.111448	0.94339	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.96611	0.8894	M	0.93978	3.48	0.80722	D	1	D;D;P;P	0.89917	0.987;1.0;0.899;0.949	P;D;B;D	0.83275	0.73;0.996;0.387;0.939	D	0.97436	1.0018	10	0.87932	D	0	.	17.5108	0.87759	0.0:0.0:1.0:0.0	.	932;947;896;759	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	D	896;932;938;888;888;759	ENSP00000290209:A896D;ENSP00000380819:A932D;ENSP00000380814:A888D;ENSP00000387725:A888D;ENSP00000390199:A759D	ENSP00000290209:A896D	A	-	2	0	SLC12A6	32317006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.662000	0.90505	0.563000	0.77884	GCC	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.443	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0	96	0	G	NM_005135		34529714	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	34529714	G	T	34529714	3	4	82	1	0	0	0	0	1	0	0	0	14432	1203	42	3	632	3	SLC12A6	15	34529714	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		34529714	68001678	223	21794											
RPAP1	26015	genome.wustl.edu	37	chr15	41829284	41829284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgactctggaagtgcagcaGgtccacctcggactcccctg	7	8	11	15	1	1	1	0	1	1	0	4	3	3	3	4	3	2	2	4	3	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:41829284G>T	ENST00000304330.4	-	2	156	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	RPAP1_ENST00000561603.1_Missense_Mutation_p.L14M	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	14						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAGTGCAGCAGGTCCACCTCG	0.602																																																	0													76	64	68					15																	41829284		2203	4300	6503	SO:0001583	missense	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.40C>A	15.37:g.41829284G>T	ENSP00000306123:p.Leu14Met		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.L14M	ENST00000304330.4	37	c.40	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663130	0.67700	.	.	ENSG00000103932	ENST00000304330	D	0.83250	-1.7	4.82	2.93	0.34026	.	0.000000	0.64402	D	0.000003	D	0.84257	0.5432	L	0.34521	1.04	0.49582	D	0.999807	D	0.89917	1.0	D	0.91635	0.999	D	0.83512	0.0081	10	0.87932	D	0	-6.3701	8.6368	0.33953	0.2537:0.0:0.7463:0.0	.	14	Q9BWH6	RPAP1_HUMAN	M	14	ENSP00000306123:L14M	ENSP00000306123:L14M	L	-	1	2	RPAP1	39616576	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.549000	0.45803	0.746000	0.32786	0.462000	0.41574	CTG	RPAP1	-	NULL	ENSG00000103932		0.602	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	-	0	24	0	G	NM_015540		41829284	-1	tier1	-	no_errors	ENST00000304330	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	41829284	G	T	41829284	3	4	82	1	0	0	0	0	1	0	0	0	13586	991	35	3	4237	3	RPAP1	15	41829284	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7299570	41829284	60702108	224	21795											
MAPKBP1	23005	genome.wustl.edu	37	chr15	42116219	42116219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagactcccaaccccatGgaatgcaccaagccaggggc	13	3	11	14	0	0	2	0	0	0	2	1	4	1	3	5	3	3	1	5	3	4	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:42116219G>T	ENST00000456763.2	+	30	4387	c.4191G>T	c.(4189-4191)atG>atT	p.M1397I	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.M1274I|RP11-23P13.4_ENST00000512295.1_RNA|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.M1230I|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.M1391I|MAPKBP1_ENST00000514566.1_Intron|RP11-23P13.4_ENST00000510176.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1397										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCAACCCCATGGAATGCACCA	0.632																																																	0													77	86	83					15																	42116219		2203	4300	6503	SO:0001583	missense	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4191G>T	15.37:g.42116219G>T	ENSP00000393099:p.Met1397Ile		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M1397I	ENST00000456763.2	37	c.4191	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	12.01	1.809407	0.31961	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.40476	1.21;1.37;1.03;1.26	5.81	4.9	0.64082	.	0.543012	0.19772	N	0.106416	T	0.30324	0.0761	L	0.36672	1.1	0.25865	N	0.983777	B;B;B;B;B	0.13145	0.0;0.002;0.003;0.002;0.007	B;B;B;B;B	0.17979	0.0;0.001;0.001;0.003;0.02	T	0.20107	-1.0285	10	0.14252	T	0.57	-3.7761	9.4645	0.38804	0.071:0.0:0.7862:0.1428	.	1230;1274;1230;1397;1391	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	I	1391;1274;1230;1397	ENSP00000397570:M1391I;ENSP00000221214:M1274I;ENSP00000260357:M1230I;ENSP00000393099:M1397I	ENSP00000221214:M1274I	M	+	3	0	MAPKBP1	39903511	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	4.748000	0.62148	1.462000	0.47948	0.655000	0.94253	ATG	MAPKBP1	-	NULL	ENSG00000137802		0.632	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	-	0	84	0	G	NM_014994		42116219	1	tier1	-	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T	T	42116219	G	T	42116219	3	4	82	1	0	0	0	0	1	0	0	0	9330	1348	47	3	4305	3	MAPKBP1	15	42116219	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	286935	42116219	60415173	225	21796											
KIF23	9493	genome.wustl.edu	37	chr15	69732685	69732685	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacagctggagatgcagaaTaaactctgggttaaagatga	17	8	11	5	0	1	4	0	1	1	3	1	5	1	4	0	2	4	3	0	2	6	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:69732685T>C	ENST00000260363.4	+	17	2043	c.1926T>C	c.(1924-1926)aaT>aaC	p.N642N	KIF23_ENST00000395392.2_Silent_p.N642N|KIF23_ENST00000537891.1_Silent_p.N459N|KIF23_ENST00000559279.1_Silent_p.N642N|KIF23_ENST00000352331.4_Silent_p.N642N|KIF23_ENST00000558585.1_Silent_p.N459N	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	642					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AGATGCAGAATAAACTCTGGG	0.448																																																	0													76	76	76					15																	69732685		2199	4298	6497	SO:0001819	synonymous_variant	0			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"Kinesins"	6392	protein-coding gene	gene with protein product		605064	"kinesin-like 5 (mitotic kinesin-like protein 1)"	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1926T>C	15.37:g.69732685T>C			Q8WVP0	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N642	ENST00000260363.4	37	c.1926	CCDS32278.1	15																																																																																			KIF23	-	NULL	ENSG00000137807		0.448	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding			0	22	0	T			69732685	1			no_errors	ENST00000260363	ensembl	human	known	74_37	silent	10.00	18	2	SNP	1.000	C	C	69732685	T	C	69732685	2	2	82	1	0	0	0	0	0	0	0	1	8318	1403	49	4		4	KIF23	15	69732685	Silent	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	27616466	69732685	32798707	226	21797											
HAPLN3	145864	genome.wustl.edu	37	chr15	89422500	89422500	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actggtaaggaaagaccacaCctgcaggggaaggaaagagg	16	3	15	7	0	0	2	0	0	0	2	0	5	0	5	2	6	1	2	2	6	4	1	rs369432073		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:89422500C>A	ENST00000359595.3	-	4	708	c.494G>T	c.(493-495)gGt>gTt	p.G165V	HAPLN3_ENST00000562889.1_Splice_Site_p.G227V	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	165					cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	AAAGACCACACCTGCAGGGGA	0.637											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													31	36	34					15																	89422500		2200	4299	6499	SO:0001630	splice_region_variant	0			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.494-1G>T	15.37:g.89422500C>A		1267	A8K7P0	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.G165V	ENST00000359595.3	37	c.494	CCDS10346.1	15	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314947	0.40996	.	.	ENSG00000140511	ENST00000359595	T	0.13778	2.56	4.02	4.02	0.46733	Link (2);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.93854	3.465	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.62407	-0.6861	10	0.54805	T	0.06	.	15.1725	0.72884	0.0:1.0:0.0:0.0	.	165;165	A8K7T8;Q96S86	.;HPLN3_HUMAN	V	165	ENSP00000352606:G165V	ENSP00000352606:G165V	G	-	2	0	HAPLN3	87223504	1.000000	0.71417	0.995000	0.50966	0.327000	0.28475	7.376000	0.79658	1.966000	0.57179	0.549000	0.68633	GGT	HAPLN3	-	pfam_Link,smart_Link	ENSG00000140511		0.637	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN3	HGNC	protein_coding	OTTHUMT00000309070.1	-	0	122	0	C	NM_178232	Missense_Mutation	89422500	-1	tier1	-	no_errors	ENST00000359595	ensembl	human	known	74_37	missense	59.68	25	37	SNP	1.000	A	A	89422500	C	A	89422500	5	1	82	1	0	0	0	0	0	0	1	0	6983	521	18	3	596	3	HAPLN3	15	89422500	Splice_Site	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	19689815	89422500	13108892	227	21798											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92647683	92647683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggccatgctctccgaaaGagaatacgagagacccaagc	14	4	11	12	2	1	2	0	0	1	2	2	6	1	2	3	1	3	2	3	1	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:92647683G>A	ENST00000318445.6	+	4	1134	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R307K|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	307					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCTCCGAAAGAGAATACGAG	0.587																																																	0													81	72	75					15																	92647683		2198	4298	6496	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.920G>A	15.37:g.92647683G>A	ENSP00000320634:p.Arg307Lys		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.R307K	ENST00000318445.6	37	c.920	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	G	7.780	0.709328	0.15239	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000556649;ENST00000555549	T;T	0.38401	1.14;1.14	5.31	5.31	0.75309	Major facilitator superfamily domain, general substrate transporter (1);	0.648102	0.16571	N	0.208631	T	0.14270	0.0345	N	0.02129	-0.67	0.37276	D	0.907616	B;B;B	0.19817	0.011;0.039;0.001	B;B;B	0.18871	0.009;0.023;0.02	T	0.11348	-1.0591	10	0.02654	T	1	.	14.5547	0.68091	0.0:0.1462:0.8538:0.0	.	249;307;307	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	K	307;307;100;26	ENSP00000320634:R307K;ENSP00000387846:R307K	ENSP00000320634:R307K	R	+	2	0	SLCO3A1	90448687	1.000000	0.71417	0.990000	0.47175	0.861000	0.49209	1.911000	0.39937	2.456000	0.83038	0.655000	0.94253	AGA	SLCO3A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.587	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1		0	64	0	G	NM_013272		92647683	1			no_errors	ENST00000318445	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.987	A	A	92647683	G	A	92647683	3	1	82	1	0	0	0	0	1	0	0	0	14773	942	33	3	934	3	SLCO3A1	15	92647683	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3225183	92647683	9883709	228	21799											
CHD2	1106	genome.wustl.edu	37	chr15	93485157	93485157	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaactattgaaaaggtCttagattcaagactgggaaa	17	10	10	4	0	2	4	1	2	1	2	2	5	2	5	0	2	1	0	0	2	7	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:93485157C>A	ENST00000394196.4	+	8	1866	c.798C>A	c.(796-798)gtC>gtA	p.V266V	CHD2_ENST00000536619.1_Silent_p.V279V|CHD2_ENST00000420239.2_Silent_p.V266V|CHD2_ENST00000557381.1_Silent_p.V266V	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	266	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGAAAAGGTCTTAGATTCAA	0.343																																																	0													108	109	109					15																	93485157		2197	4298	6495	SO:0001819	synonymous_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.798C>A	15.37:g.93485157C>A			C6G482|Q96IP5	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.V266	ENST00000394196.4	37	c.798	CCDS10374.2	15																																																																																			CHD2	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000173575		0.343	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3		0	55	0	C	NM_001271		93485157	1			no_errors	ENST00000420239	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.997	A	A	93485157	C	A	93485157	2	1	82	1	0	0	0	0	0	0	0	1	3332	900	32	3		3	CHD2	15	93485157	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	837474	93485157	9046235	229	21800											
LRRC28	123355	genome.wustl.edu	37	chr15	99892671	99892671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaataaagtcatcgggtgCagtgggtaaggccgatttca	12	10	12	7	2	2	0	2	0	0	0	3	1	2	0	1	3	2	2	1	3	5	4	rs144217679		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:99892671C>T	ENST00000301981.3	+	7	930	c.690C>T	c.(688-690)tgC>tgT	p.C230C	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Silent_p.C161C|LRRC28_ENST00000447360.2_Silent_p.C230C|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	230										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCATCGGGTGCAGTGGGTAAG	0.378																																																	0								C		0,4394		0,0,2197	129	114	119		690	3.8	1	15	dbSNP_134	119	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	LRRC28	NM_144598.2		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		230/368	99892671	1,12987	2197	4297	6494	SO:0001819	synonymous_variant	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.690C>T	15.37:g.99892671C>T			A8KA22|Q6UY49|Q6ZSS6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C230	ENST00000301981.3	37	c.690	CCDS10380.1	15																																																																																			LRRC28	-	NULL	ENSG00000168904		0.378	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	-	0	61	0	C	NM_144598		99892671	1	tier1	rs144217679	no_errors	ENST00000301981	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	99892671	C	T	99892671	2	4	82	1	0	0	0	0	0	0	0	1	9017	718	25	3		3	LRRC28	15	99892671	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	6407514	99892671	2638721	230	21801											
LRRK1	79705	genome.wustl.edu	37	chr15	101608956	101608956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacacagagtggtgcctggCcgtctggaggggctggggcg	7	6	19	9	2	1	1	0	0	1	1	1	2	1	2	2	7	2	1	2	7	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr15:101608956C>T	ENST00000388948.3	+	34	6310	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V	LRRK1_ENST00000284395.5_Missense_Mutation_p.A1981V|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGTGCCTGGCCGTCTGGAGG	0.582																																																	0													79	94	89					15																	101608956		2049	4185	6234	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5951C>T	15.37:g.101608956C>T	ENSP00000373600:p.Ala1984Val			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.A1984V	ENST00000388948.3	37	c.5951	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995176	0.74703	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.76709	-1.0;-1.04	5.83	4.9	0.64082	.	0.257798	0.38111	N	0.001818	T	0.72684	0.3491	L	0.56769	1.78	0.33186	D	0.550269	P	0.35507	0.506	B	0.24155	0.051	T	0.80734	-0.1250	10	0.66056	D	0.02	.	16.8272	0.85934	0.0:0.8713:0.1287:0.0	.	1984	Q38SD2	LRRK1_HUMAN	V	1984;1981	ENSP00000373600:A1984V;ENSP00000284395:A1981V	ENSP00000284395:A1981V	A	+	2	0	LRRK1	99426479	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.833000	0.55790	1.421000	0.47157	0.655000	0.94253	GCC	LRRK1	-	NULL	ENSG00000154237		0.582	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	61	0	C	NM_024652		101608956	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	101608956	C	T	101608956	3	4	82	1	0	0	0	0	1	0	0	0	9067	739	26	3	6081	3	LRRK1	15	101608956	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1716285	101608956	922436	231	21802											
IFT140	9742	genome.wustl.edu	37	chr16	1570179	1570179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaggtccagggcccgccCcttggtgtagaagccgatga	8	6	15	12	2	0	2	0	1	0	1	1	4	1	3	5	4	1	1	5	4	2	2	rs200065348		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:1570179C>A	ENST00000426508.2	-	28	4189	c.3826G>T	c.(3826-3828)Ggg>Tgg	p.G1276W	IFT140_ENST00000361339.5_Missense_Mutation_p.G470W	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1276					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGGGCCCGCCCCTTGGTGTAG	0.627																																																	0													83	81	81					16																	1570179		2199	4300	6499	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3826G>T	16.37:g.1570179C>A	ENSP00000406012:p.Gly1276Trp		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1276W	ENST00000426508.2	37	c.3826	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556824	0.86231	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.49432	0.78;0.78	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77645	-0.2510	10	0.72032	D	0.01	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1276;963	Q96RY7;B4DR58	IF140_HUMAN;.	W	1276;470;1276	ENSP00000354895:G470W;ENSP00000406012:G1276W	ENSP00000354895:G470W	G	-	1	0	IFT140	1510180	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	7.751000	0.85126	2.865000	0.98341	0.655000	0.94253	GGG	IFT140	-	NULL	ENSG00000187535		0.627	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	53	0	C	NM_014714		1570179	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	A	A	1570179	C	A	1570179	3	1	82	1	0	0	0	0	1	0	0	0	7583	623	22	3	578	3	IFT140	16	1570179	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		1570179	88784574	232	21803											
HN1L	90861	genome.wustl.edu	37	chr16	1748984	1748984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgggaggcaaatccagCatctccttctactaagagaa	13	7	8	13	1	2	1	0	0	2	1	4	3	3	2	4	2	2	2	4	2	4	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:1748984C>T	ENST00000248098.3	+	5	615	c.558C>T	c.(556-558)agC>agT	p.S186S	HN1L_ENST00000561516.1_3'UTR|HN1L_ENST00000562684.1_Silent_p.S214S|HN1L_ENST00000382711.5_Silent_p.S170S|HN1L_ENST00000569765.1_3'UTR|HN1L_ENST00000569256.1_3'UTR|HN1L_ENST00000382710.4_Silent_p.S174S	NM_144570.2	NP_653171.1	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	186						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	9						GCAAATCCAGCATCTCCTTCT	0.577																																																	0													42	52	49					16																	1748984		2199	4298	6497	SO:0001819	synonymous_variant	0			AK023154	CCDS10441.1	16p13.3	2006-12-13	2006-12-13	2006-12-13	ENSG00000206053	ENSG00000206053			14137	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 34"	C16orf34		15094197	Standard	NM_144570		Approved	FLJ13092, L11, KIAA1426	uc002cmg.3	Q9H910	OTTHUMG00000047859	ENST00000248098.3:c.558C>T	16.37:g.1748984C>T			B1AJY2|Q6EIC7	Silent	SNP	NULL	p.S186	ENST00000248098.3	37	c.558	CCDS10441.1	16																																																																																			HN1L	-	NULL	ENSG00000206053		0.577	HN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HN1L	HGNC	protein_coding	OTTHUMT00000109086.2	-	0	121	0	C	NM_144570		1748984	1	tier1	-	no_errors	ENST00000248098	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	1748984	C	T	1748984	2	4	82	1	0	0	0	0	0	0	0	1	7277	709	25	3		3	HN1L	16	1748984	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	178805	1748984	88605769	233	21804											
ABCA3	21	genome.wustl.edu	37	chr16	2338177	2338177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctcagcatggggtcgtCgaagagctccgaggagtagt	9	7	15	10	3	1	1	1	0	0	1	4	4	2	2	2	3	3	3	2	3	2	1	rs144138653	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:2338177C>T	ENST00000301732.5	-	21	3554	c.2854G>A	c.(2854-2856)Gac>Aac	p.D952N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D894N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	952					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	ATGGGGTCGTCGAAGAGCTCC	0.642													C|||	2	0.000399361	0	0	5008	,	,		15806	0		0.002	False		,,,				2504	0																0								C	ASN/ASP	4,4392	8.1+/-20.4	0,4,2194	65	53	57		2854	5.3	0.1	16	dbSNP_134	57	0,8598		0,0,4299	yes	missense	ABCA3	NM_001089.2	23	0,4,6493	TT,TC,CC		0.0,0.091,0.0308	benign	952/1705	2338177	4,12990	2198	4299	6497	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2854G>A	16.37:g.2338177C>T	ENSP00000301732:p.Asp952Asn		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D952N	ENST00000301732.5	37	c.2854	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	C	10.29	1.308188	0.23821	9.1E-4	0.0	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.95980	-3.87	5.27	5.27	0.74061	.	0.103112	0.64402	D	0.000004	D	0.94315	0.8173	L	0.59912	1.85	0.80722	D	1	B;B	0.33288	0.406;0.245	B;B	0.35240	0.198;0.09	D	0.93629	0.6954	10	0.51188	T	0.08	.	17.6531	0.88170	0.0:1.0:0.0:0.0	.	956;952	Q4LE27;Q99758	.;ABCA3_HUMAN	N	952;956	ENSP00000301732:D952N	ENSP00000301732:D952N	D	-	1	0	ABCA3	2278178	0.985000	0.35326	0.082000	0.20525	0.087000	0.18053	3.208000	0.51114	2.735000	0.93741	0.655000	0.94253	GAC	ABCA3	-	NULL	ENSG00000167972		0.642	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	-	0	60	0	C	NM_001089		2338177	-1	tier1	rs144138653	no_errors	ENST00000301732	ensembl	human	known	74_37	missense	47.50	21	19	SNP	0.409	T	T	2338177	C	T	2338177	3	4	82	1	0	0	0	0	1	0	0	0	33	884	31	1	2312	1	ABCA3	16	2338177	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	589193	2338177	88016576	234	21805											
MMP25	64386	genome.wustl.edu	37	chr16	3100009	3100009	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccaaatgtctcccgcaGacccagggacagtggccacc	10	4	10	17	2	1	1	0	0	1	1	2	2	1	2	6	2	0	1	6	2	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:3100009G>T	ENST00000336577.4	+	3	469		c.e3-1		MMP25_ENST00000570755.1_Splice_Site|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25						negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	GTCTCCCGCAGACCCAGGGAC	0.622																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0													77	83	81					16																	3100009		2197	4300	6497	SO:0001630	splice_region_variant	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.233-1G>T	16.37:g.3100009G>T			Q96F04|Q96TE2	Splice_Site	SNP	-	e3-1	ENST00000336577.4	37	c.233-1	CCDS10492.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.04|15.04	2.715861|2.715861	0.48622|0.48622	.|.	.|.	ENSG00000008516|ENSG00000008516	ENST00000336577|ENST00000325800	.|.	.|.	.|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73753	.|0.3627	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77197	.|-0.2676	.|5	.|0.87932	.|D	.|0	.|.	13.8568|13.8568	0.63531|0.63531	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|Y	-1|5	.|.	.|ENSP00000324953:D5Y	.|D	+|+	.|1	.|0	MMP25|MMP25	3040010|3040010	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.018000|0.018000	0.09664|0.09664	6.211000|6.211000	0.72182|0.72182	2.422000|2.422000	0.82143|0.82143	0.655000|0.655000	0.94253|0.94253	.|GAC	MMP25	-	-	ENSG00000008516		0.622	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1		0	95	0	G	NM_022468	Intron	3100009	1			no_errors	ENST00000336577	ensembl	human	known	74_37	splice_site	7.27	51	4	SNP	1.000	T	T	3100009	G	T	3100009	5	4	82	1	0	0	0	0	0	0	1	0	9700	956	33	3	242	3	MMP25	16	3100009	Splice_Site	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	761832	3100009	87254744	235	21806											
ZNF597	146434	genome.wustl.edu	37	chr16	3486729	3486729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccatcatcgctgcagcGttcagagtcctcgtcgtggc	5	10	11	15	4	2	1	2	0	0	1	7	1	4	1	3	1	2	3	3	1	0	1	rs200879821		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:3486729G>A	ENST00000301744.4	-	4	1205	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TCGCTGCAGCGTTCAGAGTCC	0.493													G|||	1	0.000199681	0	0	5008	,	,		20647	0		0	False		,,,				2504	0.001																0								G	CYS/ARG	0,4394		0,0,2197	67	63	65		970	-6.2	0	16		65	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZNF597	NM_152457.1	180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	324/425	3486729	1,12993	2197	4300	6497	SO:0001583	missense	0			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.970C>T	16.37:g.3486729G>A	ENSP00000301744:p.Arg324Cys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R324C	ENST00000301744.4	37	c.970	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832837	0.32421	0.0	1.16E-4	ENSG00000167981	ENST00000301744	T	0.07688	3.17	4.48	-6.18	0.02085	.	2.089840	0.01971	N	0.044066	T	0.06917	0.0176	L	0.47190	1.495	0.09310	N	1	B	0.16802	0.019	B	0.06405	0.002	T	0.38134	-0.9675	10	0.72032	D	0.01	3.9638	0.4697	0.00530	0.2165:0.2025:0.2735:0.3075	.	324	Q96LX8	ZN597_HUMAN	C	324	ENSP00000301744:R324C	ENSP00000301744:R324C	R	-	1	0	ZNF597	3426730	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.226000	0.01211	-0.927000	0.03766	0.650000	0.86243	CGC	ZNF597	-	NULL	ENSG00000167981		0.493	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2		0	50	0	G	NM_152457		3486729	-1			no_errors	ENST00000301744	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	A	A	3486729	G	A	3486729	3	1	82	1	0	0	0	0	1	0	0	0	18075	1145	40	1	308	1	ZNF597	16	3486729	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	386720	3486729	86868024	236	21807											
ZNF500	26048	genome.wustl.edu	37	chr16	4802882	4802882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgggaagcccgtcttcctGgtggggggccgcctcttggc	3	9	16	13	2	2	0	0	0	2	0	3	1	3	1	4	6	1	0	4	6	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:4802882G>T	ENST00000219478.6	-	6	1237	c.938C>A	c.(937-939)cCa>cAa	p.P313Q	ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Missense_Mutation_p.P313Q			O60304	ZN500_HUMAN	zinc finger protein 500	313					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCGTCTTCCTGGTGGGGGGCC	0.662																																																	0													43	45	44					16																	4802882		2197	4300	6497	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.938C>A	16.37:g.4802882G>T	ENSP00000219478:p.Pro313Gln		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P313Q	ENST00000219478.6	37	c.938	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204958	0.38905	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.08008	3.22;3.14	3.87	-2.42	0.06542	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.46925	-0.9156	9	0.13108	T	0.6	.	3.0992	0.06320	0.3333:0.0:0.3669:0.2998	.	313;313	B4DNN9;O60304	.;ZN500_HUMAN	Q	313	ENSP00000445714:P313Q;ENSP00000219478:P313Q	ENSP00000219478:P313Q	P	-	2	0	ZNF500	4742883	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.466000	0.02355	-0.447000	0.07138	0.655000	0.94253	CCA	ZNF500	-	NULL	ENSG00000103199		0.662	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1		0	70	0	G	XM_085507		4802882	-1			no_errors	ENST00000219478	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.000	T	T	4802882	G	T	4802882	3	4	82	1	0	0	0	0	1	0	0	0	17996	1348	47	3	508	3	ZNF500	16	4802882	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1316153	4802882	85551871	237	21808											
NDE1	54820	genome.wustl.edu	37	chr16	15758647	15758647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcacaatggaggactcCggaaagactttcagctccga	11	10	10	10	2	2	1	2	0	0	1	4	5	4	4	2	3	1	2	2	3	2	3	rs572790932		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:15758647C>T	ENST00000396353.2	+	3	838	c.12C>T	c.(10-12)tcC>tcT	p.S4S	NDE1_ENST00000396354.1_Silent_p.S4S|NDE1_ENST00000342673.5_Silent_p.S4S|NDE1_ENST00000396355.1_Silent_p.S4S			Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	4	Self-association. {ECO:0000250}.				centrosome duplication (GO:0051298)|cerebral cortex development (GO:0021987)|establishment of chromosome localization (GO:0051303)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuroblast proliferation (GO:0007405)|neuron migration (GO:0001764)|vesicle transport along microtubule (GO:0047496)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole centrosome (GO:0031616)	microtubule binding (GO:0008017)			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TGGAGGACTCCGGAAAGACTT	0.463													C|||	1	0.000199681	0	0	5008	,	,		17449	0		0	False		,,,				2504	0.001																0													134	134	134					16																	15758647		2197	4300	6497	SO:0001819	synonymous_variant	0			AF124431	CCDS10564.1	16p13.11	2013-08-06	2013-08-06		ENSG00000072864	ENSG00000072864			17619	protein-coding gene	gene with protein product		609449	"nudE nuclear distribution gene E homolog 1 (A. nidulans)", "nudE nuclear distribution E homolog 1 (A. nidulans)"			10940388, 12427674	Standard	NM_017668		Approved	nudE, FLJ20101, NDE	uc002dds.3	Q9NXR1	OTTHUMG00000129885	ENST00000396353.2:c.12C>T	16.37:g.15758647C>T			Q49AQ2	Silent	SNP	pfam_NUDE_C	p.S4	ENST00000396353.2	37	c.12		16																																																																																			NDE1	-	NULL	ENSG00000072864		0.463	NDE1-202	KNOWN	basic|appris_principal	protein_coding	NDE1	HGNC	protein_coding		-	0	35	0	C	NM_017668		15758647	1	tier1	-	no_errors	ENST00000396353	ensembl	human	known	74_37	silent	36.00	16	9	SNP	0.237	T	T	15758647	C	T	15758647	2	4	82	1	0	0	0	0	0	0	0	1	10282	639	23	1		1	NDE1	16	15758647	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	10955765	15758647	74596106	238	21809											
GPR139	124274	genome.wustl.edu	37	chr16	20084821	20084821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccctcacctggtaaacCgaggcacagcaagaggctgt	11	5	11	14	2	1	1	1	0	0	1	1	2	1	1	4	3	2	4	4	3	3	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:20084821C>T	ENST00000570682.1	-	1	418	c.118G>A	c.(118-120)Ggt>Agt	p.G40S		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	40					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CCTGGTAAACCGAGGCACAGC	0.672																																																	0													36	36	36					16																	20084821		2202	4299	6501	SO:0001583	missense	0			AY255545	CCDS32398.1	16p13.11	2012-08-21						"GPCR / Class A : Orphans"	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.118G>A	16.37:g.20084821C>T	ENSP00000458791:p.Gly40Ser		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.G40S	ENST00000570682.1	37	c.118	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409443	0.62399	.	.	ENSG00000180269	ENST00000326571	.	.	.	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	N	0.08118	0	0.48696	D	0.999691	B	0.32604	0.377	B	0.25614	0.062	T	0.33548	-0.9864	9	0.72032	D	0.01	-0.088	12.1817	0.54216	0.0:1.0:0.0:0.0	.	40	Q6DWJ6	GP139_HUMAN	S	40	.	ENSP00000370779:G40S	G	-	1	0	GPR139	19992322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.660000	0.54496	2.216000	0.71823	0.455000	0.32223	GGT	GPR139	-	prints_GPCR_Rhodpsn	ENSG00000180269		0.672	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	-	0	138	0	C	NM_001002911		20084821	-1	tier1	-	no_errors	ENST00000570682	ensembl	human	known	74_37	missense	44.44	45	36	SNP	1.000	T	T	20084821	C	T	20084821	3	4	82	1	0	0	0	0	1	0	0	0	6674	652	23	1	951	1	GPR139	16	20084821	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	4326174	20084821	70269932	239	21810											
EEF2K	29904	genome.wustl.edu	37	chr16	22295238	22295238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccaggcagcagaggcagCgatggaagccatgaagggcc	12	3	15	11	1	0	2	0	1	0	1	0	4	0	3	3	4	4	3	3	4	3	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:22295238C>T	ENST00000263026.5	+	18	2573	c.2099C>T	c.(2098-2100)gCg>gTg	p.A700V	RP11-141O15.1_ENST00000568125.1_RNA|RP11-141O15.1_ENST00000562376.1_RNA	NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	700					insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCAGAGGCAGCGATGGAAGCC	0.562																																					NSCLC(195;1411 2157 20319 27471 51856)												0													31	26	28					16																	22295238		2193	4293	6486	SO:0001583	missense	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.2099C>T	16.37:g.22295238C>T	ENSP00000263026:p.Ala700Val		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.A700V	ENST00000263026.5	37	c.2099	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.639551	0.96693	.	.	ENSG00000103319	ENST00000263026	T	0.35048	1.33	5.71	5.71	0.89125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67047	-0.5769	10	0.87932	D	0	-21.326	19.8575	0.96767	0.0:1.0:0.0:0.0	.	700	O00418	EF2K_HUMAN	V	700	ENSP00000263026:A700V	ENSP00000263026:A700V	A	+	2	0	EEF2K	22202739	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.416000	0.80143	2.698000	0.92095	0.561000	0.74099	GCG	EEF2K	-	pirsf_Elongation_factor_2_kinase	ENSG00000103319		0.562	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	-	0	82	0	C	NM_013302		22295238	1	tier1	-	no_errors	ENST00000263026	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	22295238	C	T	22295238	3	4	82	1	0	0	0	0	1	0	0	0	4944	768	27	1	2165	1	EEF2K	16	22295238	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2210417	22295238	68059515	240	21811											
SEPT1	1731	genome.wustl.edu	37	chr16	30392561	30392561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccacatctaggggccGgagcctgcacccagggattg	9	5	15	12	1	1	0	0	0	1	0	1	3	1	2	4	5	2	1	4	5	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:30392561G>A	ENST00000571393.1	-	7	631	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	SEPT1_ENST00000321367.3_Missense_Mutation_p.R196W|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_Missense_Mutation_p.R154W			Q8WYJ6	SEPT1_HUMAN	septin 1	149	Septin-type G.			LRP -> SR (in Ref. 1; AAL40393). {ECO:0000305}.	cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCTAGGGGCCGGAGCCTGCAC	0.637																																																	0													77	76	76					16																	30392561		2197	4300	6497	SO:0001583	missense	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.445C>T	16.37:g.30392561G>A	ENSP00000460441:p.Arg149Trp		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.R196W	ENST00000571393.1	37	c.586		16	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204205	0.58234	.	.	ENSG00000180096	ENST00000321367	.	.	.	5.93	4.93	0.64822	.	0.205879	0.34156	N	0.004206	T	0.73473	0.3591	M	0.89095	3.005	0.48135	D	0.999592	P	0.41643	0.758	P	0.45406	0.479	T	0.79087	-0.1947	9	0.87932	D	0	.	14.4622	0.67459	0.0:0.0:0.8213:0.1787	.	149	Q8WYJ6	SEPT1_HUMAN	W	149	.	ENSP00000324511:R149W	R	-	1	2	SEPT1	30300062	0.969000	0.33509	1.000000	0.80357	0.563000	0.35712	1.643000	0.37217	1.342000	0.45619	0.561000	0.74099	CGG	SEPT1	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000180096		0.637	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding		-	0	180	0	G	NM_052838		30392561	-1	tier1	-	no_errors	ENST00000321367	ensembl	human	known	74_37	missense	17.89	78	17	SNP	1.000	A	A	30392561	G	A	30392561	3	1	82	1	0	0	0	0	1	0	0	0	14104	1115	39	1	682	1	SEPT1	16	30392561	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	8097323	30392561	59962192	241	21812											
SEPT1	1731	genome.wustl.edu	37	chr16	30393468	30393470	+	In_Frame_Del	DEL	TGA	TGA	-																															gttggtgaggaagaggctgtTgatgagggtggatttcccta																								rs151280275	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:30393468_30393470delTGA	ENST00000571393.1	-	4	311_313	c.125_127delTCA	c.(124-129)atcaac>aac	p.I42del	SEPT1_ENST00000321367.3_In_Frame_Del_p.I89del|SEPT1_ENST00000570039.1_5'Flank|SEPT1_ENST00000605106.1_In_Frame_Del_p.I47del			Q8WYJ6	SEPT1_HUMAN	septin 1	42	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAGAGGCTGTTGATGAGGGTGGA	0.626																																																	0																																										SO:0001651	inframe_deletion	0			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"Septins"	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.125_127delTCA	16.37:g.30393471_30393473delTGA	ENSP00000460441:p.Ile42del		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	In_Frame_Del	DEL	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.I89in_frame_del	ENST00000571393.1	37	c.268_266		16																																																																																			SEPT1	-	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000180096		0.626	SEPT1-201	KNOWN	basic	protein_coding	SEPT1	HGNC	protein_coding			0	57	0	TGA	NM_052838		30393470	-1	tier1		no_errors	ENST00000321367	ensembl	human	known	74_37	in_frame_del	16.28	36	7	DEL	1.000:1.000:1.000	-	-	30393470	TGA	-	30393468	7	5	82	1	0	1	0	1	0	0	0	0	14104	1812	63	0	1012	0	SEPT1	16	30393468	In_Frame_Del	DEL	TGA	TCGA-L5-A8NH-01A-11D-A37C-09	907	30393468	59961285	242	21813											
ITGAL	3683	genome.wustl.edu	37	chr16	30522438	30522438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccccatcctgtaccccAtcaacatcctcatccaggag	10	9	4	18	0	3	0	3	0	0	0	7	1	7	1	7	1	2	1	7	1	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:30522438A>T	ENST00000356798.6	+	24	2947	c.2767A>T	c.(2767-2769)Atc>Ttc	p.I923F	ITGAL_ENST00000358164.5_Missense_Mutation_p.I839F|ITGAL_ENST00000433423.2_Missense_Mutation_p.I157F	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	923					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CCTGTACCCCATCAACATCCT	0.582																																					NSCLC(110;1462 1641 3311 33990 49495)												0													195	168	177					16																	30522438		2197	4300	6497	SO:0001583	missense	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2767A>T	16.37:g.30522438A>T	ENSP00000349252:p.Ile923Phe		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.I923F	ENST00000356798.6	37	c.2767	CCDS32433.1	16	.	.	.	.	.	.	.	.	.	.	A	14.08	2.428276	0.43122	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.46819	0.86;0.86;0.86	5.0	-2.18	0.07037	Integrin alpha-2 (1);	0.738090	0.12210	N	0.489428	T	0.55970	0.1954	L	0.54323	1.7	0.80722	D	1	D;D;D	0.62365	0.991;0.979;0.962	P;P;P	0.62491	0.903;0.791;0.794	T	0.60801	-0.7191	10	0.87932	D	0	.	10.4253	0.44373	0.4433:0.0:0.5567:0.0	.	157;839;923	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	F	923;839;157	ENSP00000349252:I923F;ENSP00000350886:I839F;ENSP00000409377:I157F	ENSP00000349252:I923F	I	+	1	0	ITGAL	30429939	0.021000	0.18746	0.981000	0.43875	0.100000	0.18952	-0.435000	0.06931	-0.291000	0.09012	-0.375000	0.07067	ATC	ITGAL	-	pfam_Integrin_alpha-2	ENSG00000005844		0.582	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0	79	0	A			30522438	1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.774	T	T	30522438	A	T	30522438	3	4	82	1	0	0	0	0	1	0	0	0	7913	217	8	5	2861	5	ITGAL	16	30522438	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	128970	30522438	59832315	243	21814											
ABCC11	85320	genome.wustl.edu	37	chr16	48220864	48220864	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcagaaggactcacTggctgatgaagtcttcagtt	11	10	12	8	0	3	3	2	2	1	1	3	4	3	4	0	3	1	4	0	3	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:48220864T>C	ENST00000394747.1	-	21	3420	c.3071A>G	c.(3070-3072)cAg>cGg	p.Q1024R	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Splice_Site_p.Q1024R|ABCC11_ENST00000394748.1_Splice_Site_p.Q1024R|ABCC11_ENST00000356608.2_Splice_Site_p.Q1024R	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1024	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AAGGACTCACTGGCTGATGAA	0.498																																																	0													77	70	72					16																	48220864		2201	4300	6501	SO:0001630	splice_region_variant	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3071+1A>G	16.37:g.48220864T>C			Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q1024R	ENST00000394747.1	37	c.3071	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	T	2.587	-0.296156	0.05532	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.58	1.97	0.26223	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.391760	0.04531	N	0.386330	T	0.67154	0.2863	N	0.01779	-0.725	0.80722	D	1	B;B	0.15719	0.014;0.006	B;B	0.17098	0.004;0.017	T	0.60010	-0.7346	9	.	.	.	-0.7787	2.2272	0.03987	0.1567:0.0858:0.1635:0.5941	.	1024;1024	Q96J66-2;Q96J66	.;ABCCB_HUMAN	R	1024	ENSP00000311326:Q1024R;ENSP00000349017:Q1024R;ENSP00000378231:Q1024R;ENSP00000378230:Q1024R	.	Q	-	2	0	ABCC11	46778365	0.001000	0.12720	0.206000	0.23566	0.982000	0.71751	-0.418000	0.07080	0.052000	0.16007	0.460000	0.39030	CAG	ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000121270		0.498	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0	55	0	T	NM_032583	Missense_Mutation	48220864	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.151	C	C	48220864	T	C	48220864	5	2	82	1	0	0	0	0	0	0	1	0	51	1594	55	4	1113	4	ABCC11	16	48220864	Splice_Site	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	17698426	48220864	42133889	244	21815											
GFOD2	81577	genome.wustl.edu	37	chr16	67709267	67709267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgccctgcccctggaaggActggcgcaaggcctgcacca	7	5	13	16	2	0	0	0	0	0	0	1	2	0	2	5	4	2	2	5	4	2	0	rs139441064		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:67709267A>G	ENST00000268797.7	-	3	1294	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	317					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		CCCTGGAAGGACTGGCGCAAG	0.677																																																	0													66	60	62					16																	67709267		2198	4300	6498	SO:0001583	missense	0			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.949T>C	16.37:g.67709267A>G	ENSP00000268797:p.Ser317Pro		Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.S317P	ENST00000268797.7	37	c.949	CCDS10845.1	16	.	.	.	.	.	.	.	.	.	.	A	18.77	3.695027	0.68386	.	.	ENSG00000141098	ENST00000268797	T	0.47869	0.83	5.28	4.16	0.48862	.	0.158510	0.64402	D	0.000018	T	0.46983	0.1421	M	0.62723	1.935	0.58432	D	0.999991	B	0.20671	0.047	B	0.25140	0.058	T	0.46219	-0.9207	10	0.72032	D	0.01	-24.0213	12.09	0.53719	0.8558:0.1442:0.0:0.0	.	317	Q3B7J2	GFOD2_HUMAN	P	317	ENSP00000268797:S317P	ENSP00000268797:S317P	S	-	1	0	GFOD2	66266768	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.608000	0.46308	0.913000	0.36797	0.455000	0.32223	TCC	GFOD2	-	NULL	ENSG00000141098		0.677	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD2	HGNC	protein_coding	OTTHUMT00000268868.2		0	90	0	A	NM_030819		67709267	-1			no_errors	ENST00000268797	ensembl	human	known	74_37	missense	5.56	85	5	SNP	1.000	G	G	67709267	A	G	67709267	3	3	82	1	0	0	0	0	1	0	0	0	6370	275	10	4	212	4	GFOD2	16	67709267	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	19488403	67709267	22645486	245	21816											
GFOD2	81577	genome.wustl.edu	37	chr16	67719533	67719533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccacagggcctcaacaGtgaacccttctgccctcagc	8	7	7	19	0	3	1	2	1	1	0	4	1	4	1	5	1	4	0	5	1	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:67719533G>T	ENST00000268797.7	-	2	431	c.86C>A	c.(85-87)aCt>aAt	p.T29N	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	29					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		GGCCTCAACAGTGAACCCTTC	0.592																																																	0													74	64	67					16																	67719533		2198	4300	6498	SO:0001583	missense	0			AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.86C>A	16.37:g.67719533G>T	ENSP00000268797:p.Thr29Asn		Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	pfam_Oxidoreductase_N	p.T29N	ENST00000268797.7	37	c.86	CCDS10845.1	16	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467353	0.26335	.	.	ENSG00000141098	ENST00000268797	T	0.21734	1.99	5.43	5.43	0.79202	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.335632	0.31031	N	0.008385	T	0.13884	0.0336	N	0.14661	0.345	0.32250	N	0.571576	B	0.09022	0.002	B	0.15052	0.012	T	0.07385	-1.0775	10	0.30854	T	0.27	-20.9149	14.4558	0.67416	0.0:0.1473:0.8527:0.0	.	29	Q3B7J2	GFOD2_HUMAN	N	29	ENSP00000268797:T29N	ENSP00000268797:T29N	T	-	2	0	GFOD2	66277034	1.000000	0.71417	0.959000	0.39883	0.915000	0.54546	5.171000	0.64996	2.541000	0.85698	0.561000	0.74099	ACT	GFOD2	-	pfam_Oxidoreductase_N	ENSG00000141098		0.592	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD2	HGNC	protein_coding	OTTHUMT00000268868.2	-	0	53	0	G	NM_030819		67719533	-1	tier1	-	no_errors	ENST00000268797	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.940	T	T	67719533	G	T	67719533	3	4	82	1	0	0	0	0	1	0	0	0	6370	1029	36	3	1079	3	GFOD2	16	67719533	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	10266	67719533	22635220	246	21817											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76592524	76592524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctgaggctgttctgaaaAgtgagcttaatatacaaaat	14	12	10	5	0	1	3	0	3	1	0	1	3	1	3	0	1	3	4	0	1	7	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:76592524A>G	ENST00000476707.1	+	23	4019	c.3880A>G	c.(3880-3882)Agt>Ggt	p.S1294G	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1242G|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S1218G|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S1290G|RP11-58C22.1_ENST00000563764.1_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1291					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGTTCTGAAAAGTGAGCTTAA	0.343																																																	0													72	70	70					16																	76592524		1883	4129	6012	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3880A>G	16.37:g.76592524A>G	ENSP00000417628:p.Ser1294Gly		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.S1290G	ENST00000476707.1	37	c.3868		16	.	.	.	.	.	.	.	.	.	.	A	14.07	2.425103	0.43020	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.88277	-2.22;-2.32;-2.32;-2.36	5.65	5.65	0.86999	.	0.141196	0.32386	N	0.006165	D	0.84520	0.5490	.	.	.	0.36860	D	0.888339	B;B;P	0.40431	0.009;0.215;0.717	B;B;B	0.32677	0.008;0.101;0.15	D	0.88252	0.2917	9	0.54805	T	0.06	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1218;1294;1291	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	G	1290;1242;1218;1294	ENSP00000306893:S1290G;ENSP00000439733:S1242G;ENSP00000418741:S1218G;ENSP00000417628:S1294G	ENSP00000306893:S1290G	S	+	1	0	CNTNAP4	75150025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.236000	0.65354	2.371000	0.80710	0.533000	0.62120	AGT	CNTNAP4	-	NULL	ENSG00000152910		0.343	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1	-	0	53	0	A	NM_033401		76592524	1	tier1	-	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	G	G	76592524	A	G	76592524	3	3	82	1	0	0	0	0	1	0	0	0	3656	72	3	4	3978	4	CNTNAP4	16	76592524	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	8872991	76592524	13762229	247	21818											
ADAD2	161931	genome.wustl.edu	37	chr16	84230321	84230321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttcaccaggcggccaGggctgtggggaagccctacc	6	6	15	14	1	1	0	1	0	0	0	1	1	1	1	5	6	2	1	5	6	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr16:84230321G>T	ENST00000315906.5	+	9	1647	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.R614M|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	532	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CAGGCGGCCAGGGCTGTGGGG	0.657																																																	0													61	64	63					16																	84230321		2200	4300	6500	SO:0001583	missense	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1595G>T	16.37:g.84230321G>T	ENSP00000325153:p.Arg532Met		B2RCL6|Q8NA94	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R614M	ENST00000315906.5	37	c.1841	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941736	0.34283	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93953	-3.32;-3.32	5.27	-5.3	0.02738	Adenosine deaminase/editase (2);	2.272360	0.01894	N	0.038796	D	0.94255	0.8155	M	0.74467	2.265	0.09310	N	1	D;D	0.62365	0.98;0.991	P;P	0.54060	0.656;0.741	D	0.88476	0.3065	10	0.66056	D	0.02	2.9537	7.6471	0.28327	0.639:0.1219:0.2391:0.0	.	532;614	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	M	532;614	ENSP00000325153:R532M;ENSP00000268624:R614M	ENSP00000268624:R614M	R	+	2	0	ADAD2	82787822	0.000000	0.05858	0.000000	0.03702	0.133000	0.20885	-0.291000	0.08343	-1.206000	0.02641	0.585000	0.79938	AGG	ADAD2	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000140955		0.657	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1		0	60	0	G	NM_139174		84230321	1			no_errors	ENST00000268624	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	T	T	84230321	G	T	84230321	3	4	82	1	0	0	0	0	1	0	0	0	232	1000	35	3	1879	3	ADAD2	16	84230321	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7637797	84230321	6124432	248	21819											
PRPF8	10594	genome.wustl.edu	37	chr17	1586912	1586912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcctgacatgttctggggGcatgtcttccttctgggcat	4	15	11	11	0	3	1	0	1	3	0	5	1	5	1	2	3	0	3	2	3	0	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:1586912G>A	ENST00000572621.1	-	2	449	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	PRPF8_ENST00000304992.6_Missense_Mutation_p.P62S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	62					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTCTGGGGGCATGTCTTCC	0.507																																																	0													196	166	176					17																	1586912		2203	4300	6503	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.184C>T	17.37:g.1586912G>A	ENSP00000460348:p.Pro62Ser		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.P62S	ENST00000572621.1	37	c.184	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.191803	0.94923	.	.	ENSG00000174231	ENST00000304992	T	0.54279	0.58	5.41	5.41	0.78517	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.78310	0.4263	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81775	-0.0778	10	0.59425	D	0.04	.	19.1993	0.93704	0.0:0.0:1.0:0.0	.	62	Q6P2Q9	PRP8_HUMAN	S	62	ENSP00000304350:P62S	ENSP00000304350:P62S	P	-	1	0	PRPF8	1533662	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.185000	0.94900	2.534000	0.85438	0.467000	0.42956	CCC	PRPF8	-	pfam_PRO8NT	ENSG00000174231		0.507	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	-	0	90	0	G			1586912	-1	tier1	-	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	1586912	G	A	1586912	3	1	82	1	0	0	0	0	1	0	0	0	12617	1203	42	3	6987	3	PRPF8	17	1586912	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		1586912	79608298	249	21820											
XAF1	54739	genome.wustl.edu	37	chr17	6674047	6674047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctcttccaagtcaagCtgctgaaaatcaaacttcca	13	12	4	12	0	4	1	3	1	1	0	7	1	6	1	2	0	3	2	2	0	5	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:6674047C>T	ENST00000361842.3	+	6	832	c.593C>T	c.(592-594)gCt>gTt	p.A198V	XAF1_ENST00000346752.4_Missense_Mutation_p.A179V|XAF1_ENST00000441631.1_Missense_Mutation_p.A198V	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	198					apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|negative regulation of protein complex assembly (GO:0031333)|response to interferon-beta (GO:0035456)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAAGTCAAGCTGCTGAAAAT	0.373																																																	0													85	88	87					17																	6674047		2203	4300	6503	SO:0001583	missense	0			X99699	CCDS11080.1, CCDS11081.1	17p13.2	2010-03-19			ENSG00000132530	ENSG00000132530			30932	protein-coding gene	gene with protein product		606717				12029096, 11175744	Standard	NM_199139		Approved	BIRC4BP, XIAPAF1, HSXIAPAF1	uc002gdn.3	Q6GPH4		ENST00000361842.3:c.593C>T	17.37:g.6674047C>T	ENSP00000354822:p.Ala198Val		A2T931|A2T932|A8K2L1|A8K9Y3|D3DTM6|Q6MZE8|Q8N557|Q99982	Missense_Mutation	SNP	superfamily_TRAF-like,pfscan_Znf_TRAF	p.A198V	ENST00000361842.3	37	c.593	CCDS11080.1	17	.	.	.	.	.	.	.	.	.	.	c	12.76	2.035873	0.35893	.	.	ENSG00000132530	ENST00000361842;ENST00000441631;ENST00000346752;ENST00000431790	T;T;T	0.21031	4.04;2.04;2.03	5.13	0.729	0.18266	.	1.428890	0.04572	N	0.393512	T	0.13884	0.0336	N	0.24115	0.695	0.09310	N	1	B;B;B;B;P	0.35077	0.386;0.386;0.386;0.267;0.483	B;B;B;B;B	0.36766	0.232;0.232;0.124;0.058;0.163	T	0.21965	-1.0230	10	0.30078	T	0.28	-27.735	2.4095	0.04420	0.1581:0.5277:0.1435:0.1707	.	198;96;179;198;138	C9K044;Q6GPH4-6;Q6GPH4-2;Q6GPH4;B3KPW1	.;.;.;XAF1_HUMAN;.	V	198;198;179;96	ENSP00000354822:A198V;ENSP00000413199:A198V;ENSP00000341029:A179V	ENSP00000341029:A179V	A	+	2	0	XAF1	6614771	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.012000	0.12699	0.087000	0.17167	-0.119000	0.15052	GCT	XAF1	-	NULL	ENSG00000132530		0.373	XAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XAF1	HGNC	protein_coding	OTTHUMT00000439643.5	-	0	53	0	C	NM_017523		6674047	1	tier1	-	no_errors	ENST00000361842	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	T	T	6674047	C	T	6674047	3	4	82	1	0	0	0	0	1	0	0	0	17468	797	28	3	615	3	XAF1	17	6674047	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	5087135	6674047	74521163	250	21821											
TP53	7157	genome.wustl.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	5	1	5	2	4	rs587781991		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50	50	50					17																	7578526		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135F	ENST00000269305.4	37	c.404	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	41	0	C	NM_000546		7578526	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	60.61	13	20	SNP	1.000	A	A	7578526	C	A	7578526	3	1	82	1	0	0	0	0	1	0	0	0	16429	710	25	3	894	3	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	904479	7578526	73616684	251	21822											
DNAH9	1770	genome.wustl.edu	37	chr17	11573044	11573044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaccctttaaggcatctCtgctgaatattattaagagg	11	14	8	8	1	1	2	0	1	1	1	3	3	1	2	1	2	1	2	1	2	5	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:11573044C>A	ENST00000262442.4	+	17	3354	c.3286C>A	c.(3286-3288)Ctg>Atg	p.L1096M	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1096M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1096	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAAGGCATCTCTGCTGAATAT	0.458																																																	0													130	133	132					17																	11573044		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3286C>A	17.37:g.11573044C>A	ENSP00000262442:p.Leu1096Met		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1096M	ENST00000262442.4	37	c.3286	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994235	0.35226	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.47528	0.88;0.84	4.73	3.76	0.43208	.	0.000000	0.56097	D	0.000021	T	0.66645	0.2810	M	0.84846	2.72	0.80722	D	1	D	0.62365	0.991	P	0.62649	0.905	T	0.70784	-0.4778	10	0.72032	D	0.01	.	10.184	0.42986	0.0:0.8221:0.0:0.1779	.	1096	Q9NYC9	DYH9_HUMAN	M	1096	ENSP00000262442:L1096M;ENSP00000414874:L1096M	ENSP00000262442:L1096M	L	+	1	2	DNAH9	11513769	0.705000	0.27846	0.951000	0.38953	0.195000	0.23768	1.131000	0.31406	1.111000	0.41721	0.591000	0.81541	CTG	DNAH9	-	NULL	ENSG00000007174		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	27	0	C	NM_001372		11573044	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.937	A	A	11573044	C	A	11573044	3	1	82	1	0	0	0	0	1	0	0	0	4622	912	32	3	3352	3	DNAH9	17	11573044	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	3994518	11573044	69622166	252	21823											
DNAH9	1770	genome.wustl.edu	37	chr17	11840831	11840831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggagcgggcgccacaagaGaagaaaaggtgtgtgtggtg	12	5	18	6	3	0	2	0	0	0	2	0	4	0	3	1	4	1	0	1	4	4	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:11840831G>A	ENST00000262442.4	+	66	12720	c.12652G>A	c.(12652-12654)Gaa>Aaa	p.E4218K	DNAH9_ENST00000608377.1_Missense_Mutation_p.E530K|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4142K|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4218					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCCACAAGAGAAGAAAAGGT	0.587																																																	0													65	74	71					17																	11840831		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12652G>A	17.37:g.11840831G>A	ENSP00000262442:p.Glu4218Lys		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E4218K	ENST00000262442.4	37	c.12652	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663867	0.67700	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.11169	2.8;2.8;2.8	4.87	4.87	0.63330	Dynein heavy chain (1);	0.257056	0.44688	D	0.000433	T	0.45013	0.1321	H	0.95402	3.665	0.80722	D	1	D	0.56746	0.977	P	0.62560	0.904	T	0.62445	-0.6853	10	0.87932	D	0	.	18.5672	0.91120	0.0:0.0:1.0:0.0	.	4218	Q9NYC9	DYH9_HUMAN	K	4218;4142;2724;530	ENSP00000262442:E4218K;ENSP00000414874:E4142K;ENSP00000379323:E530K	ENSP00000262442:E4218K	E	+	1	0	DNAH9	11781556	1.000000	0.71417	0.961000	0.40146	0.270000	0.26580	9.561000	0.98142	2.689000	0.91719	0.551000	0.68910	GAA	DNAH9	-	pfam_Dynein_heavy_dom	ENSG00000007174		0.587	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	61	0	G	NM_001372		11840831	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	A	A	11840831	G	A	11840831	3	1	82	1	0	0	0	0	1	0	0	0	4622	943	33	3	12914	3	DNAH9	17	11840831	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	267787	11840831	69354379	253	21824											
HS3ST3A1	9955	genome.wustl.edu	37	chr17	13503953	13503953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactccagcagcgcccgcGtgccgcccttcttcactccg	5	7	10	19	5	2	0	1	0	1	0	4	1	4	1	5	1	4	1	5	1	1	2	rs374947064		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:13503953G>A	ENST00000284110.1	-	1	1291	c.494C>T	c.(493-495)aCg>aTg	p.T165M		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	165					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGCGCCCGCGTGCCGCCCTT	0.721																																																	0													7	8	8					17																	13503953		2157	4194	6351	SO:0001583	missense	0			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"Sulfotransferases, membrane-bound"	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.494C>T	17.37:g.13503953G>A	ENSP00000284110:p.Thr165Met		A8K7N2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.T165M	ENST00000284110.1	37	c.494	CCDS11165.1	17	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345437	0.82022	.	.	ENSG00000153976	ENST00000284110	T	0.73469	-0.75	3.11	3.11	0.35812	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	D	0.91092	0.7196	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94550	0.7753	10	0.87932	D	0	.	15.0645	0.71983	0.0:0.0:1.0:0.0	.	165	Q9Y663	HS3SA_HUMAN	M	165	ENSP00000284110:T165M	ENSP00000284110:T165M	T	-	2	0	HS3ST3A1	13444678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.922000	0.75811	2.031000	0.59945	0.561000	0.74099	ACG	HS3ST3A1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000153976		0.721	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1		0	42	0	G	NM_006042		13503953	-1			no_errors	ENST00000284110	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A	A	13503953	G	A	13503953	3	1	82	1	0	0	0	0	1	0	0	0	7392	1145	40	1	734	1	HS3ST3A1	17	13503953	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1663122	13503953	67691257	254	21825											
HAP1	9001	genome.wustl.edu	37	chr17	39884552	39884552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagcaccagcacctcCgacagctcagccatctgttg	9	7	9	16	1	2	1	1	1	1	0	3	2	3	1	5	0	5	4	5	0	0	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:39884552C>T	ENST00000310778.5	-	7	1110	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.S375S|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Silent_p.S367S|HAP1_ENST00000393939.2_Silent_p.S367S			P54257	HAP1_HUMAN	huntingtin-associated protein 1	367	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCAGCACCTCCGACAGCTCAG	0.672																																																	0													42	37	39					17																	39884552		2203	4299	6502	SO:0001819	synonymous_variant	0			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"neuroan 1"	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1101G>A	17.37:g.39884552C>T			A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	pfam_HAP1_N	p.S367	ENST00000310778.5	37	c.1101		17																																																																																			HAP1	-	pfam_HAP1_N	ENSG00000173805		0.672	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	-	0	74	0	C	NM_003949		39884552	-1	tier1	-	no_errors	ENST00000310778	ensembl	human	known	74_37	silent	18.45	84	19	SNP	0.002	T	T	39884552	C	T	39884552	2	4	82	1	0	0	0	0	0	0	0	1	6980	639	23	1		1	HAP1	17	39884552	Silent	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	26380599	39884552	41310658	255	21826											
VAT1	10493	genome.wustl.edu	37	chr17	41170790	41170790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctgccacatccctgaccgGttcaacaccatcacccggtc	8	8	6	19	2	2	1	2	1	0	0	5	1	4	1	6	2	2	1	6	2	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:41170790G>T	ENST00000420567.3	-	2	157	c.12C>A	c.(10-12)aaC>aaA	p.N4K	VAT1_ENST00000355653.3_Missense_Mutation_p.N138K|VAT1_ENST00000587173.1_Missense_Mutation_p.N70K			P54219	VMAT1_HUMAN	vesicle amine transport 1	0			T -> P (in dbSNP:rs2270641). {ECO:0000269|PubMed:15489334}.		monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TCCCTGACCGGTTCAACACCA	0.527																																																	0													100	83	89					17																	41170790		2203	4300	6503	SO:0001583	missense	0			U18009	CCDS11451.1	17q21	2013-08-23	2013-08-23			ENSG00000108828			16919	protein-coding gene	gene with protein product		604631	"vesicle amine transport protein 1 homolog (T. californica)"			7774926, 8938427	Standard	NM_006373		Approved	VATI, FLJ20230	uc002icm.1	Q99536		ENST00000420567.3:c.12C>A	17.37:g.41170790G>T	ENSP00000408553:p.Asn4Lys		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.N138K	ENST00000420567.3	37	c.414		17	.	.	.	.	.	.	.	.	.	.	G	3.591	-0.083610	0.07141	.	.	ENSG00000108828	ENST00000355653;ENST00000542468;ENST00000420567;ENST00000315674	T;T	0.54479	0.57;2.84	5.64	3.51	0.40186	GroES-like (1);	0.485871	0.24717	N	0.036171	T	0.35595	0.0937	N	0.20986	0.625	0.37685	D	0.923617	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.30592	-0.9973	10	0.46703	T	0.11	-0.7291	8.4825	0.33052	0.2083:0.1262:0.6655:0.0	.	70;138	B4DPX4;Q99536	.;VAT1_HUMAN	K	138;45;4;138	ENSP00000347872:N138K;ENSP00000408553:N4K	ENSP00000326121:N138K	N	-	3	2	VAT1	38424316	0.953000	0.32496	0.989000	0.46669	0.877000	0.50540	0.590000	0.23954	1.379000	0.46325	0.561000	0.74099	AAC	VAT1	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000108828		0.527	VAT1-002	PUTATIVE	basic|exp_conf	protein_coding	VAT1	HGNC	protein_coding	OTTHUMT00000453104.1		0	41	0	G	NM_006373		41170790	-1			no_errors	ENST00000355653	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.927	T	T	41170790	G	T	41170790	3	4	82	1	0	0	0	0	1	0	0	0	17178	1252	44	3	787	3	VAT1	17	41170790	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1286238	41170790	40024420	256	21827											
GRN	2896	genome.wustl.edu	37	chr17	42428797	42428797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgctgccgtctacagtCgggggcctggggctgctgcc	3	9	15	14	2	1	0	0	0	1	0	2	0	1	0	4	4	6	3	4	4	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:42428797C>T	ENST00000053867.3	+	9	964	c.902C>T	c.(901-903)tCg>tTg	p.S301L	GRN_ENST00000589265.1_Intron|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	301					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGTCTACAGTCGGGGGCCTGG	0.642																																																	0													51	52	52					17																	42428797		2203	4300	6503	SO:0001583	missense	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.902C>T	17.37:g.42428797C>T	ENSP00000053867:p.Ser301Leu		D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.S301L	ENST00000053867.3	37	c.902	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757926	0.69648	.	.	ENSG00000030582	ENST00000053867;ENST00000357351;ENST00000393566	T	0.73152	-0.72	4.95	4.95	0.65309	Granulin (2);	0.840764	0.10401	N	0.679165	T	0.79857	0.4518	M	0.82517	2.595	0.49213	D	0.99976	D;D	0.56035	0.96;0.974	B;P	0.50659	0.435;0.647	T	0.75551	-0.3278	10	0.21540	T	0.41	-6.9258	15.7227	0.77724	0.0:1.0:0.0:0.0	.	238;301	B4DJI2;P28799	.;GRN_HUMAN	L	301;301;121	ENSP00000053867:S301L	ENSP00000053867:S301L	S	+	2	0	GRN	39784323	0.000000	0.05858	0.007000	0.13788	0.941000	0.58515	0.532000	0.23067	2.572000	0.86782	0.491000	0.48974	TCG	GRN	-	pfam_Granulin,smart_Granulin	ENSG00000030582		0.642	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	-	0	67	0	C	NM_002087		42428797	1	tier1	-	no_errors	ENST00000053867	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.024	T	T	42428797	C	T	42428797	3	4	82	1	0	0	0	0	1	0	0	0	6831	893	31	1	932	1	GRN	17	42428797	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1258007	42428797	38766413	257	21828											
AKAP1	8165	genome.wustl.edu	37	chr17	55195798	55195798	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcgagatgacggggaatAcagcactgcttgctcaggtg	10	8	15	8	2	1	3	1	2	0	1	1	5	1	4	0	3	5	3	0	3	2	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:55195798A>C	ENST00000337714.3	+	9	2790	c.2557A>C	c.(2557-2559)Aca>Cca	p.T853P	AKAP1_ENST00000571629.1_Missense_Mutation_p.T853P|AKAP1_ENST00000572557.1_Missense_Mutation_p.T853P|AKAP1_ENST00000539273.1_Missense_Mutation_p.T853P	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	853					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GACGGGGAATACAGCACTGCT	0.557																																																	0													113	100	104					17																	55195798		2203	4300	6503	SO:0001583	missense	0			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2557A>C	17.37:g.55195798A>C	ENSP00000337736:p.Thr853Pro		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.T853P	ENST00000337714.3	37	c.2557	CCDS11594.1	17	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804368	0.31869	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	T;T	0.15139	2.45;2.45	5.09	1.64	0.23874	.	0.186206	0.49305	D	0.000151	T	0.19406	0.0466	N	0.22421	0.69	0.42641	D	0.993413	D	0.71674	0.998	P	0.59221	0.854	T	0.01648	-1.1304	10	0.59425	D	0.04	-5.535	8.3012	0.32014	0.6565:0.0:0.3435:0.0	.	853	Q92667	AKAP1_HUMAN	P	853;895;853	ENSP00000337736:T853P;ENSP00000443139:T853P	ENSP00000337736:T853P	T	+	1	0	AKAP1	52550797	0.234000	0.23783	0.524000	0.27887	0.952000	0.60782	1.076000	0.30729	0.087000	0.17167	0.533000	0.62120	ACA	AKAP1	-	NULL	ENSG00000121057		0.557	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	-	0	47	0	A			55195798	1	tier1	-	no_errors	ENST00000337714	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.342	C	C	55195798	A	C	55195798	3	2	82	1	0	0	0	0	1	0	0	0	445	391	14	4	2587	4	AKAP1	17	55195798	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	12767001	55195798	25999412	258	21829											
MKS1	54903	genome.wustl.edu	37	chr17	56283514	56283514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctgcatgcggcgccGggctcgacggaaggcctctg	4	6	16	15	5	1	0	0	0	1	0	3	2	2	1	4	5	2	2	4	5	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:56283514G>A	ENST00000393119.2	-	18	1680	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	MKS1_ENST00000537529.2_Missense_Mutation_p.R526W|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000546108.1_Missense_Mutation_p.R333W|MKS1_ENST00000313863.6_3'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	536					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.R536W(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATGCGGCGCCGGGCTCGACGG	0.602																																																	1	Substitution - Missense(1)	prostate(1)											29	32	31					17																	56283514		1895	4111	6006	SO:0001583	missense	0			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"POC12 centriolar protein homolog (Chlamydomonas)"	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1606C>T	17.37:g.56283514G>A	ENSP00000376827:p.Arg536Trp		B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.R536W	ENST00000393119.2	37	c.1606	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218167	0.79464	.	.	ENSG00000011143	ENST00000537529;ENST00000393119;ENST00000546108	T;T;D	0.83755	-1.38;-1.35;-1.76	5.35	4.34	0.51931	.	0.056863	0.64402	D	0.000002	D	0.88654	0.6495	L	0.58101	1.795	0.52501	D	0.999952	D	0.89917	1.0	D	0.80764	0.994	D	0.89165	0.3533	10	0.87932	D	0	-29.2123	14.3125	0.66424	0.0:0.0:0.8515:0.1485	.	536	Q9NXB0	MKS1_HUMAN	W	526;536;333	ENSP00000442096:R526W;ENSP00000376827:R536W;ENSP00000443012:R333W	ENSP00000376827:R536W	R	-	1	2	MKS1	53638513	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.046000	0.57376	2.788000	0.95919	0.555000	0.69702	CGG	MKS1	-	NULL	ENSG00000011143		0.602	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2		0	73	0	G	NM_017777		56283514	-1			no_errors	ENST00000393119	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	A	A	56283514	G	A	56283514	3	1	82	1	0	0	0	0	1	0	0	0	9647	1115	39	1	77	1	MKS1	17	56283514	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1087716	56283514	24911696	259	21830											
MED13	9969	genome.wustl.edu	37	chr17	60061649	60061649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagggggcagatattggcttGgtagagtttttagaggtgca	9	13	16	3	0	0	3	0	0	0	3	0	3	0	3	0	5	1	5	0	5	4	8			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:60061649G>C	ENST00000397786.2	-	15	2847	c.2771C>G	c.(2770-2772)cCa>cGa	p.P924R		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	924					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATTGGCTTGGTAGAGTTTT	0.388																																																	0													91	84	86					17																	60061649		1816	4085	5901	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2771C>G	17.37:g.60061649G>C	ENSP00000380888:p.Pro924Arg		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.P924R	ENST00000397786.2	37	c.2771	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387879	0.82902	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.95554	-3.74	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.97961	0.9329	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98276	1.0506	10	0.87932	D	0	-18.9456	20.1047	0.97888	0.0:0.0:1.0:0.0	.	924	Q9UHV7	MED13_HUMAN	R	924;923	ENSP00000380888:P924R	ENSP00000262436:P923R	P	-	2	0	MED13	57416431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.367000	0.97148	2.762000	0.94881	0.655000	0.94253	CCA	MED13	-	NULL	ENSG00000108510		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1		0	80	0	G	NM_005121		60061649	-1			no_errors	ENST00000397786	ensembl	human	known	74_37	missense	5.56	66	4	SNP	1.000	C	C	60061649	G	C	60061649	3	2	82	1	0	0	0	0	1	0	0	0	9468	1348	47	5	3817	5	MED13	17	60061649	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3778135	60061649	21133561	260	21831											
SLC25A10	1468	genome.wustl.edu	37	chr17	79682740	79682740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtttagctggaggcttcGtggggacgcccgcagacttg	6	9	16	10	3	0	1	0	0	0	1	1	3	0	3	1	5	1	4	1	5	1	4	rs541892207		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:79682740G>A	ENST00000350690.5	+	4	432	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	SLC25A10_ENST00000331531.5_Missense_Mutation_p.V116M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.V271M|SLC25A10_ENST00000571730.1_Missense_Mutation_p.V271M|SLC25A10_ENST00000545862.1_Missense_Mutation_p.V73M	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	116					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGGAGGCTTCGTGGGGACGCC	0.662																																																	0													106	113	111					17																	79682740		2203	4300	6503	SO:0001583	missense	0				CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"Solute carriers"	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.346G>A	17.37:g.79682740G>A	ENSP00000345580:p.Val116Met		Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.V271M	ENST00000350690.5	37	c.811	CCDS11786.1	17	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777606	0.49786	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	4.11	4.11	0.48088	Mitochondrial carrier domain (2);	0.248506	0.33515	N	0.004833	D	0.88171	0.6365	M	0.83012	2.62	0.51482	D	0.999926	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.66847	0.88;0.911;0.947	D	0.89052	0.3456	10	0.72032	D	0.01	-27.3577	9.8171	0.40860	0.0973:0.0:0.9027:0.0	.	271;116;116	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	M	271;116;116;73	ENSP00000439565:V271M;ENSP00000328403:V116M;ENSP00000345580:V116M;ENSP00000446242:V73M	ENSP00000328403:V116M	V	+	1	0	SLC25A10	77293145	0.986000	0.35501	0.955000	0.39395	0.371000	0.29859	1.988000	0.40697	1.861000	0.53984	0.313000	0.20887	GTG	SLC25A10	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000183048		0.662	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	SLC25A10	HGNC	protein_coding	OTTHUMT00000440816.1	-	0	31	0	G			79682740	1	tier1	-	no_errors	ENST00000541223	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.970	A	A	79682740	G	A	79682740	3	1	82	1	0	0	0	0	1	0	0	0	14517	1145	40	1	360	1	SLC25A10	17	79682740	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	19621091	79682740	1512470	261	21832											
C17orf101	79701	genome.wustl.edu	37	chr17	80373480	80373480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagcctctgcacctccCgcggggctcggtccttcttg	3	9	11	18	3	2	0	0	0	2	0	5	0	4	0	5	3	2	2	5	3	0	2	rs527862857		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr17:80373480C>T	ENST00000313056.5	-	2	249	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	Y_RNA_ENST00000364369.1_RNA|HEXDC_ENST00000337014.6_5'Flank|OGFOD3_ENST00000329197.5_Missense_Mutation_p.R33Q	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	33						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										CTGCACCTCCCGCGGGGCTCG	0.637													C|||	1	0.000199681	0	0	5008	,	,		16745	0		0.001	False		,,,				2504	0																0													24	27	26					17																	80373480		2203	4300	6503	SO:0001583	missense	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.98G>A	17.37:g.80373480C>T	ENSP00000320116:p.Arg33Gln		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.R33Q	ENST00000313056.5	37	c.98	CCDS11811.1	17	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050568	0.36181	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.32988	1.9;1.43	5.0	-1.5	0.08691	.	1.265250	0.05940	N	0.636762	T	0.14485	0.0350	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.005;0.017	B;B	0.12837	0.002;0.008	T	0.30446	-0.9978	10	0.13108	T	0.6	-9.7559	8.758	0.34656	0.0:0.3013:0.0:0.6987	.	33;33	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	Q	33	ENSP00000320116:R33Q;ENSP00000330075:R33Q	ENSP00000320116:R33Q	R	-	2	0	C17orf101	77966769	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.242000	0.08928	-0.115000	0.11915	0.655000	0.94253	CGG	OGFOD3	-	NULL	ENSG00000181396		0.637	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD3	HGNC	protein_coding	OTTHUMT00000442895.1		0	106	0	C	NM_175902		80373480	-1			no_errors	ENST00000329197	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.001	T	T	80373480	C	T	80373480	3	4	82	1	0	0	0	0	1	0	0	0	1853	652	23	1	1070	1	C17orf101	17	80373480	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	690740	80373480	821730	262	21833											
KIAA0802	23255	genome.wustl.edu	37	chr18	8720379	8720379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaccacgaacttaagaCggtggaggaaaagcgcgcta	14	6	12	9	4	0	1	0	0	0	1	0	4	0	3	1	3	3	2	1	3	5	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr18:8720379C>T	ENST00000306329.11	+	3	1322	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	SOGA2_ENST00000517570.1_Missense_Mutation_p.T81M|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000400050.3_Missense_Mutation_p.T81M|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000359865.3_Missense_Mutation_p.T81M																							GAACTTAAGACGGTGGAGGAA	0.468																																																	0													113	99	103					18																	8720379		2203	4300	6503	SO:0001583	missense	0																														ENST00000306329.11:c.1322C>T	18.37:g.8720379C>T	ENSP00000305027:p.Thr441Met			Missense_Mutation	SNP	pfam_SOGA	p.T81M	ENST00000306329.11	37	c.242		18	.	.	.	.	.	.	.	.	.	.	c	15.83	2.949295	0.53186	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.78481	-1.18;-1.18;-1.18	5.08	3.17	0.36434	.	0.288652	0.25214	N	0.032288	T	0.75576	0.3868	L	0.33485	1.01	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	T	0.73588	-0.3935	10	0.46703	T	0.11	-9.4624	4.5547	0.12131	0.1217:0.5003:0.2915:0.0865	.	81	Q9Y4B5-3	.	M	102;81;81;81	ENSP00000429556:T81M;ENSP00000352927:T81M;ENSP00000382924:T81M	ENSP00000305027:T102M	T	+	2	0	CCDC165	8710379	0.845000	0.29573	0.799000	0.32177	0.671000	0.39405	1.274000	0.33132	1.293000	0.44690	-0.127000	0.14921	ACG	SOGA2	-	NULL	ENSG00000168502		0.468	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1		0	50	0	C			8720379	1			no_errors	ENST00000359865	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.902	T	T	8720379	C	T	8720379	3	4	82	1	0	0	0	0	1	0	0	0	8221	536	19	1	248	1	KIAA0802	18	8720379	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		8720379	69356869	263	21834											
ZNF521	25925	genome.wustl.edu	37	chr18	22671957	22671957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgcctcccatcccttcGaagctgtgctctatcaggtg	7	11	10	13	1	2	0	1	0	1	0	5	1	4	0	3	2	3	2	3	2	3	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr18:22671957G>T	ENST00000361524.3	-	6	3895	c.3747C>A	c.(3745-3747)ttC>ttA	p.F1249L	ZNF521_ENST00000584787.1_Missense_Mutation_p.F1029L|ZNF521_ENST00000538137.2_Missense_Mutation_p.F1249L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1249					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCATCCCTTCGAAGCTGTGCT	0.498			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													132	111	118					18																	22671957		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3747C>A	18.37:g.22671957G>T	ENSP00000354794:p.Phe1249Leu		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F1249L	ENST00000361524.3	37	c.3747	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374866	0.42105	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T	0.08720	3.06	5.98	-1.45	0.08828	Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.05318	0.0141	N	0.17379	0.485	0.43408	D	0.995548	B	0.15930	0.015	B	0.21917	0.037	T	0.33471	-0.9867	10	0.49607	T	0.09	-30.2925	11.4528	0.50162	0.787:0.0:0.213:0.0	.	1249	Q96K83	ZN521_HUMAN	L	1249;1283;1249	ENSP00000354794:F1249L	ENSP00000354794:F1249L	F	-	3	2	ZNF521	20925955	0.998000	0.40836	0.994000	0.49952	0.999000	0.98932	0.697000	0.25556	-0.162000	0.10964	0.655000	0.94253	TTC	ZNF521	-	pfscan_Znf_C2H2	ENSG00000198795		0.498	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	63	0	G	NM_015461		22671957	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.998	T	T	22671957	G	T	22671957	3	4	82	1	0	0	0	0	1	0	0	0	18013	1049	37	2	200	2	ZNF521	18	22671957	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	13951578	22671957	55405291	264	21835											
DSEL	92126	genome.wustl.edu	37	chr18	65179637	65179637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgatcagccacactggCaaagccaccgaatcccagat	12	6	8	15	1	1	2	1	1	0	1	2	3	2	2	5	1	2	1	5	1	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr18:65179637C>A	ENST00000310045.7	-	2	3712	c.2239G>T	c.(2239-2241)Gcc>Tcc	p.A747S	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	737					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCACACTGGCAAAGCCACCG	0.388																																																	0													51	53	52					18																	65179637		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2239G>T	18.37:g.65179637C>A	ENSP00000310565:p.Ala747Ser		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.A747S	ENST00000310045.7	37	c.2239	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655715	0.47467	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.20881	2.04	5.39	5.39	0.77823	.	0.152975	0.41605	U	0.000853	T	0.35422	0.0931	M	0.72118	2.19	0.46542	D	0.999093	D	0.56968	0.978	P	0.48270	0.572	T	0.17961	-1.0352	10	0.56958	D	0.05	.	18.7445	0.91787	0.0:1.0:0.0:0.0	.	737	Q8IZU8	DSEL_HUMAN	S	747;737	ENSP00000310565:A747S	ENSP00000310565:A747S	A	-	1	0	DSEL	63330617	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.829000	0.62737	2.548000	0.85928	0.455000	0.32223	GCC	DSEL	-	NULL	ENSG00000171451		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	29	0	C	NM_032160		65179637	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A	A	65179637	C	A	65179637	3	1	82	1	0	0	0	0	1	0	0	0	4789	710	25	3	1433	3	DSEL	18	65179637	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	42507680	65179637	12897611	265	21836											
MUM1	84939	genome.wustl.edu	37	chr19	1370705	1370705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcctcaactgagcaaGgggagccccgaggagcccgt	10	5	13	13	2	1	1	1	1	0	0	2	4	2	3	4	3	5	2	4	3	3	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:1370705G>C	ENST00000415183.3	+	11	1643	c.1617G>C	c.(1615-1617)aaG>aaC	p.K539N	MUM1_ENST00000591806.1_Missense_Mutation_p.K539N|MUM1_ENST00000344663.3_Missense_Mutation_p.K539N|MUM1_ENST00000311401.5_Missense_Mutation_p.K470N			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	538					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGAGCAAGGGGAGCCCCG	0.677																																																	0													10	10	10					19																	1370705		2072	4071	6143	SO:0001583	missense	0			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1617G>C	19.37:g.1370705G>C	ENSP00000394925:p.Lys539Asn		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP_dom	p.K539N	ENST00000415183.3	37	c.1617		19	.	.	.	.	.	.	.	.	.	.	G	4.507	0.094128	0.08632	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.42513	0.97;0.97;0.97	5.0	-4.08	0.03963	.	2.462170	0.00939	N	0.002817	T	0.20333	0.0489	N	0.21373	0.66	0.09310	N	1	B;B;P;B	0.38767	0.069;0.13;0.646;0.017	B;B;B;B	0.34038	0.02;0.037;0.174;0.012	T	0.10497	-1.0627	10	0.13470	T	0.59	.	0.7616	0.01008	0.3533:0.1158:0.2941:0.2368	.	539;539;470;538	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	N	539;470;539	ENSP00000345789:K539N;ENSP00000309135:K470N;ENSP00000394925:K539N	ENSP00000309135:K470N	K	+	3	2	MUM1	1321705	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.237000	0.08990	-0.555000	0.06142	-0.409000	0.06214	AAG	MUM1	-	NULL	ENSG00000160953		0.677	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	-	0	83	0	G	NM_032853		1370705	1	tier1	-	no_errors	ENST00000344663	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	C	C	1370705	G	C	1370705	3	2	82	1	0	0	0	0	1	0	0	0	10023	991	35	5	1659	5	MUM1	19	1370705	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		1370705	57758278	266	21837											
NFIC	4782	genome.wustl.edu	37	chr19	3381984	3381984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccggcaagaaggcgcCgggctgcgtgctctccaacc	8	5	12	16	4	2	1	1	0	1	1	3	1	2	1	4	3	3	3	4	3	3	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:3381984C>T	ENST00000443272.2	+	2	356	c.305C>T	c.(304-306)cCg>cTg	p.P102L	NFIC_ENST00000346156.5_Missense_Mutation_p.P93L|NFIC_ENST00000395111.3_Missense_Mutation_p.P93L|NFIC_ENST00000590282.1_Missense_Mutation_p.P102L|NFIC_ENST00000586919.1_Missense_Mutation_p.P93L|NFIC_ENST00000341919.3_Missense_Mutation_p.P102L|NFIC_ENST00000589123.1_Missense_Mutation_p.P93L	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	102					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AAGAAGGCGCCGGGCTGCGTG	0.672																																																	0													71	78	75					19																	3381984		2203	4300	6503	SO:0001583	missense	0			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.305C>T	19.37:g.3381984C>T	ENSP00000396843:p.Pro102Leu		A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.P102L	ENST00000443272.2	37	c.305	CCDS59330.1	19	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516736	0.64634	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.75050	-0.9;-0.9;-0.9	3.88	3.88	0.44766	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.144057	0.45867	D	0.000330	T	0.56396	0.1982	N	0.22421	0.69	0.80722	D	1	P;P;P;P;P	0.42248	0.774;0.574;0.733;0.519;0.519	B;B;B;B;B	0.28784	0.094;0.094;0.057;0.035;0.057	T	0.66810	-0.5829	10	0.72032	D	0.01	.	14.8198	0.70062	0.0:1.0:0.0:0.0	.	102;102;93;102;93	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	L	93;93;93;102;102;102	ENSP00000378543:P93L;ENSP00000301935:P93L;ENSP00000342194:P102L	ENSP00000269778:P102L	P	+	2	0	NFIC	3332984	0.886000	0.30341	1.000000	0.80357	0.973000	0.67179	7.515000	0.81761	1.879000	0.54435	0.467000	0.42956	CCG	NFIC	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	ENSG00000141905		0.672	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	-	0	96	0	C	NM_005597		3381984	1	tier1	-	no_errors	ENST00000443272	ensembl	human	known	74_37	missense	53.03	31	35	SNP	0.998	T	T	3381984	C	T	3381984	3	4	82	1	0	0	0	0	1	0	0	0	10411	652	23	1	318	1	NFIC	19	3381984	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2011279	3381984	55746999	267	21838											
DPP9	91039	genome.wustl.edu	37	chr19	4703929	4703929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcagccgccgctcctcGcctgtctcgatgttggccac	5	9	11	16	4	2	0	1	0	1	0	5	1	3	0	5	2	1	2	5	2	1	1	rs368915583		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:4703929G>A	ENST00000598800.1	-	8	1156	c.651C>T	c.(649-651)ggC>ggT	p.G217G	DPP9_ENST00000262960.9_Silent_p.G246G|DPP9_ENST00000597849.1_Silent_p.G246G|DPP9_ENST00000594671.1_Silent_p.G217G			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	217						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCGCTCCTCGCCTGTCTCGA	0.642																																																	0													32	36	35					19																	4703929		2019	4163	6182	SO:0001819	synonymous_variant	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"dipeptidylpeptidase 9"				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.651C>T	19.37:g.4703929G>A			O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.G246	ENST00000598800.1	37	c.738		19																																																																																			DPP9	-	pfam_Peptidase_S9B	ENSG00000142002		0.642	DPP9-026	NOVEL	basic	protein_coding	DPP9	HGNC	protein_coding	OTTHUMT00000459343.2	-	0	108	0	G			4703929	-1	tier1	-	no_errors	ENST00000262960	ensembl	human	known	74_37	silent	60.87	17	28	SNP	0.858	A	A	4703929	G	A	4703929	2	1	82	1	0	0	0	0	0	0	0	1	4747	1074	38	1		1	DPP9	19	4703929	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1321945	4703929	54425054	268	21839											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7511987	7511987	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtgttttgtagtggccAcaatgaagctgttagtcatt	8	15	12	6	1	1	1	1	1	0	0	1	1	1	1	1	2	1	4	1	2	4	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:7511987A>T	ENST00000359920.6	+	5	1359	c.1106A>T	c.(1105-1107)cAc>cTc	p.H369L	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.H211L|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.T327S	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	369	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TGTAGTGGCCACAATGAAGCT	0.313																																																	0													77	74	75					19																	7511987		2203	4300	6503	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1106A>T	19.37:g.7511987A>T	ENSP00000352995:p.His369Leu		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H369L	ENST00000359920.6	37	c.1106	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	A	18.27	3.588069	0.66105	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.68765	-0.35;-0.35	4.85	4.85	0.62838	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000017	D	0.84160	0.5411	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.994;0.995	D	0.87526	0.2449	10	0.87932	D	0	-31.9075	12.4151	0.55490	1.0:0.0:0.0:0.0	.	211;369	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	L	211;369	ENSP00000319200:H211L;ENSP00000352995:H369L	ENSP00000319200:H211L	H	+	2	0	ARHGEF18	7417987	1.000000	0.71417	0.996000	0.52242	0.424000	0.31475	9.228000	0.95250	1.815000	0.52974	0.459000	0.35465	CAC	ARHGEF18	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000104880		0.313	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1		0	68	0	A	NM_015318		7511987	1			no_errors	ENST00000359920	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	7511987	A	T	7511987	3	4	82	1	0	0	0	0	1	0	0	0	901	159	6	5	1124	5	ARHGEF18	19	7511987	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	2808058	7511987	51616996	269	21840											
HNRNPM	4670	genome.wustl.edu	37	chr19	8551084	8551084	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccaacagcctcgagcGcatgggccctgccatgggcc	6	5	15	15	2	0	0	0	0	0	0	1	1	0	0	5	3	5	1	5	3	1	0	rs531807844	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:8551084G>C	ENST00000325495.4	+	14	1813	c.1772G>C	c.(1771-1773)cGc>cCc	p.R591P	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R552P	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	591	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCCTCGAGCGCATGGGCCCT	0.701																																																	0													28	31	30					19																	8551084		2199	4292	6491	SO:0001583	missense	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"RNA binding motif (RRM) containing"	5046	protein-coding gene	gene with protein product	"CEA receptor"	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1772G>C	19.37:g.8551084G>C	ENSP00000325376:p.Arg591Pro		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.R591P	ENST00000325495.4	37	c.1772	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882025	0.72294	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.16196	2.36;2.67	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.37100	0.0991	L	0.50333	1.59	0.80722	D	1	D;D;D;D	0.76494	0.997;0.988;0.986;0.999	P;P;P;D	0.64877	0.852;0.769;0.706;0.93	T	0.01977	-1.1236	10	0.72032	D	0.01	.	18.655	0.91450	0.0:0.0:1.0:0.0	.	431;591;552;476	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	P	591;552;476;148	ENSP00000325376:R591P;ENSP00000325732:R552P	ENSP00000325376:R591P	R	+	2	0	HNRNPM	8457084	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.871000	0.92346	2.746000	0.94184	0.591000	0.81541	CGC	HNRNPM	-	NULL	ENSG00000099783		0.701	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	-	0	62	0	G			8551084	1	tier1	-	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	C	C	8551084	G	C	8551084	3	2	82	1	0	0	0	0	1	0	0	0	7298	1087	38	5	1826	5	HNRNPM	19	8551084	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1039097	8551084	50577899	270	21841											
ZNF177	7730	genome.wustl.edu	37	chr19	9491694	9491694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaatacctactggagaGaaaggtgatgaatgcagtga	16	7	13	5	0	0	4	0	3	0	1	0	7	0	5	1	2	4	2	1	2	5	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:9491694G>T	ENST00000589262.1	+	6	753	c.687G>T	c.(685-687)gaG>gaT	p.E229D	ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000434737.2_Missense_Mutation_p.E229D|ZNF177_ENST00000343499.4_Intron	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	229					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTACTGGAGAGAAAGGTGATG	0.448																																																	0																																										SO:0001583	missense	0			U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type", "-"	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.687G>T	19.37:g.9491694G>T	ENSP00000468531:p.Glu229Asp		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E229D	ENST00000589262.1	37	c.687	CCDS54214.1	19	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394844	0.42512	.	.	ENSG00000188629	ENST00000434737	T	0.19806	2.12	2.64	1.56	0.23342	.	.	.	.	.	T	0.18383	0.0441	L	0.58354	1.805	.	.	.	P	0.37997	0.614	B	0.31390	0.129	T	0.21930	-1.0231	8	0.66056	D	0.02	.	8.741	0.34558	0.0:0.0:0.7724:0.2276	.	229	B4DY57	.	D	229	ENSP00000415070:E229D	ENSP00000415070:E229D	E	+	3	2	ZNF177	9352694	1.000000	0.71417	0.157000	0.22605	0.036000	0.12997	2.585000	0.46111	0.660000	0.30964	0.563000	0.77884	GAG	ZNF177	-	NULL	ENSG00000188629		0.448	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF177	HGNC	protein_coding	OTTHUMT00000449028.1	-	0	48	0	G	NM_003451		9491694	1	tier1	-	no_errors	ENST00000434737	ensembl	human	known	74_37	missense	71.43	9	25	SNP	1.000	T	T	9491694	G	T	9491694	3	4	82	1	0	0	0	0	1	0	0	0	17794	933	33	3	705	3	ZNF177	19	9491694	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	940610	9491694	49637289	271	21842											
SLC44A2	57153	genome.wustl.edu	37	chr19	10747424	10747424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcgagtacctggatcagcGgctgaaaggtacgtcccacc	10	7	11	13	3	1	1	1	1	0	0	3	3	2	2	3	3	3	3	3	3	3	2	rs571971748	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:10747424G>A	ENST00000335757.5	+	16	1959	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	SLC44A2_ENST00000586078.1_Missense_Mutation_p.R528Q|SLC44A2_ENST00000407327.4_Missense_Mutation_p.R526Q			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	528					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTGGATCAGCGGCTGAAAGGT	0.622													G|||	3	0.000599042	0.0023	0	5008	,	,		18431	0		0	False		,,,				2504	0																0													95	75	82					19																	10747424		2203	4300	6503	SO:0001583	missense	0			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1583G>A	19.37:g.10747424G>A	ENSP00000336888:p.Arg528Gln		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.R528Q	ENST00000335757.5	37	c.1583	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947020	0.73672	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.20738	2.05;2.05	5.13	5.13	0.70059	.	0.055850	0.64402	D	0.000001	T	0.13200	0.0320	L	0.31120	0.905	0.45087	D	0.9981	P;P;P	0.37233	0.526;0.588;0.526	B;B;B	0.29862	0.101;0.108;0.101	T	0.06162	-1.0842	10	0.30854	T	0.27	-23.6835	11.0036	0.47620	0.0861:0.0:0.9139:0.0	.	528;528;526	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	Q	526;528;528	ENSP00000385135:R526Q;ENSP00000336888:R528Q	ENSP00000336888:R528Q	R	+	2	0	SLC44A2	10608424	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.831000	0.55776	2.675000	0.91044	0.655000	0.94253	CGG	SLC44A2	-	pfam_Choline_transptr-like	ENSG00000129353		0.622	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1		0	36	0	G			10747424	1			no_errors	ENST00000335757	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	A	A	10747424	G	A	10747424	3	1	82	1	0	0	0	0	1	0	0	0	14681	1116	39	1	1680	1	SLC44A2	19	10747424	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1255730	10747424	48381559	272	21843											
KCNN1	3780	genome.wustl.edu	37	chr19	18099331	18099331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacactcagctcaccaaGcgggtgaggaccgcggttcc	9	6	13	13	3	2	1	2	1	0	0	3	3	3	3	3	4	2	2	3	4	1	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:18099331G>T	ENST00000222249.9	+	7	1486	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	389	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	AGCTCACCAAGCGGGTGAGGA	0.617																																																	0													60	59	59					19																	18099331		2203	4299	6502	SO:0001583	missense	0			U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.1167G>T	19.37:g.18099331G>T	ENSP00000476519:p.Lys389Asn		Q5KR10|Q6DJU4	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.K389N	ENST00000222249.9	37	c.1167		19	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821965	0.71028	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	4.76	4.76	0.60689	Calmodulin-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.75946	0.3919	M	0.80982	2.52	0.53688	D	0.999971	P	0.51351	0.944	P	0.57620	0.824	T	0.77440	-0.2587	9	0.40728	T	0.16	-32.1669	15.2768	0.73748	0.0:0.0:1.0:0.0	.	389	Q92952	KCNN1_HUMAN	N	406;389	.	ENSP00000222249:K406N	K	+	3	2	KCNN1	17960331	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.913000	0.63341	2.198000	0.70561	0.561000	0.74099	AAG	KCNN1	-	pfam_CaM-bd_dom,superfamily_CaM-bd_dom	ENSG00000105642		0.617	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	KCNN1	HGNC	protein_coding	OTTHUMT00000471896.2	-	0	57	0	G	NM_002248		18099331	1	tier1	-	no_errors	ENST00000222249	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	18099331	G	T	18099331	3	4	82	1	0	0	0	0	1	0	0	0	8105	962	34	3	1185	3	KCNN1	19	18099331	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7351907	18099331	41029652	273	21844											
ZNF431	170959	genome.wustl.edu	37	chr19	21366433	21366433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttaaccggtccccacaaCttactgcacataagataatt	13	12	4	12	1	0	1	0	0	0	1	1	1	1	1	3	1	4	1	3	1	5	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:21366433C>A	ENST00000311048.7	+	5	1471	c.1327C>A	c.(1327-1329)Ctt>Att	p.L443I	ZNF431_ENST00000600692.1_3'UTR|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	443					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCCCACAACTTACTGCACA	0.383																																																	0													42	46	44					19																	21366433		2193	4292	6485	SO:0001583	missense	0			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"Zinc fingers, C2H2-type", "-"	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.1327C>A	19.37:g.21366433C>A	ENSP00000308578:p.Leu443Ile		A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L443I	ENST00000311048.7	37	c.1327	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	7.365	0.625558	0.14257	.	.	ENSG00000196705	ENST00000311048	T	0.53857	0.6	1.04	-0.123	0.13527	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71409	0.3336	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57242	-0.7845	9	0.87932	D	0	.	6.3996	0.21630	0.0:0.7837:0.0:0.2163	.	443	Q8TF32	ZN431_HUMAN	I	443	ENSP00000308578:L443I	ENSP00000308578:L443I	L	+	1	0	ZNF431	21158273	0.056000	0.20664	0.012000	0.15200	0.011000	0.07611	0.560000	0.23500	0.452000	0.26830	0.455000	0.32223	CTT	ZNF431	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196705		0.383	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1		0	69	0	C	XM_086098		21366433	1			no_errors	ENST00000311048	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.002	A	A	21366433	C	A	21366433	3	1	82	1	0	0	0	0	1	0	0	0	17953	565	20	3	1345	3	ZNF431	19	21366433	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	3267102	21366433	37762550	274	21845											
ZNF208	7757	genome.wustl.edu	37	chr19	22154945	22154945	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcttcagtatgaattttcTtatgataactaagggttgag	11	17	8	5	0	3	3	1	3	2	0	4	3	3	3	0	1	1	2	0	1	5	8			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:22154945T>G	ENST00000397126.4	-	4	3039	c.2891A>C	c.(2890-2892)aAg>aCg	p.K964T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	964					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAATTTTCTTATGATAACT	0.338																																																	0													33	36	35					19																	22154945		2067	4214	6281	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2891A>C	19.37:g.22154945T>G	ENSP00000380315:p.Lys964Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K964T	ENST00000397126.4	37	c.2891	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	t	8.503	0.864723	0.17250	.	.	ENSG00000160321	ENST00000397126	T	0.17854	2.25	3.07	0.646	0.17789	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26710	-1.0095	6	0.54805	T	0.06	.	3.966	0.09431	0.1829:0.1141:0.0:0.7029	.	.	.	.	T	964	ENSP00000380315:K964T	ENSP00000380315:K964T	K	-	2	0	ZNF208	21946785	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.123000	0.10611	-0.282000	0.09128	0.234000	0.17832	AAG	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.338	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	71	0	T	NM_007153		22154945	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	7.55	49	4	SNP	0.006	G	G	22154945	T	G	22154945	3	3	82	1	0	0	0	0	1	0	0	0	17814	1609	56	4	955	4	ZNF208	19	22154945	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	788512	22154945	36974038	275	21846											
ZNF676	163223	genome.wustl.edu	37	chr19	22363641	22363641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgttccatgagctttgagGacgagttggaagctttgcca	9	13	12	7	1	0	2	0	2	0	0	1	5	1	4	2	2	3	4	2	2	2	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:22363641G>T	ENST00000397121.2	-	3	1195	c.878C>A	c.(877-879)tCc>tAc	p.S293Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GAGCTTTGAGGACGAGTTGGA	0.428																																																	0													102	106	105					19																	22363641		2157	4278	6435	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.878C>A	19.37:g.22363641G>T	ENSP00000380310:p.Ser293Tyr		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S293Y	ENST00000397121.2	37	c.878	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.048865	0.00394	.	.	ENSG00000196109	ENST00000397121	T	0.07908	3.15	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	L	0.49350	1.555	0.09310	N	1	B	0.31351	0.32	B	0.26770	0.073	T	0.41502	-0.9505	9	0.17832	T	0.49	.	2.6385	0.04964	0.2433:0.0:0.2682:0.4885	.	293	Q8N7Q3	ZN676_HUMAN	Y	293	ENSP00000380310:S293Y	ENSP00000380310:S293Y	S	-	2	0	ZNF676	22155481	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-2.660000	0.00851	-1.149000	0.02843	-1.152000	0.01820	TCC	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	74	0	G	NM_001001411		22363641	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	9.72	65	7	SNP	0.000	T	T	22363641	G	T	22363641	3	4	82	1	0	0	0	0	1	0	0	0	18131	1174	41	3	892	3	ZNF676	19	22363641	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	208696	22363641	36765342	276	21847											
ZNF676	163223	genome.wustl.edu	37	chr19	22363653	22363653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgaggacgagttggaaGctttgccacattcttcacat	9	13	10	9	1	2	1	1	1	1	0	2	4	2	3	1	2	2	3	1	2	1	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:22363653G>T	ENST00000397121.2	-	3	1183	c.866C>A	c.(865-867)gCt>gAt	p.A289D		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CGAGTTGGAAGCTTTGCCACA	0.433																																																	0													97	102	100					19																	22363653		2156	4279	6435	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.866C>A	19.37:g.22363653G>T	ENSP00000380310:p.Ala289Asp		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A289D	ENST00000397121.2	37	c.866	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	2.838	-0.241173	0.05906	.	.	ENSG00000196109	ENST00000397121	T	0.36340	1.26	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43456	0.1248	L	0.39566	1.225	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36286	-0.9754	9	0.72032	D	0.01	.	4.8352	0.13460	0.2228:0.5497:0.2275:0.0	.	289	Q8N7Q3	ZN676_HUMAN	D	289	ENSP00000380310:A289D	ENSP00000380310:A289D	A	-	2	0	ZNF676	22155493	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.147000	0.01293	-1.157000	0.02815	-1.151000	0.01829	GCT	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	77	0	G	NM_001001411		22363653	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	12.16	65	9	SNP	0.097	T	T	22363653	G	T	22363653	3	4	82	1	0	0	0	0	1	0	0	0	18131	971	34	3	904	3	ZNF676	19	22363653	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	12	22363653	36765330	277	21848											
ZNF283	284349	genome.wustl.edu	37	chr19	44352455	44352455	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaaattcataccggtGagaaacctttcaaatgtaag	17	10	7	7	1	3	2	3	1	0	2	3	3	3	2	2	1	2	1	2	1	6	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:44352455G>T	ENST00000324461.7	+	7	1999	c.1702G>T	c.(1702-1704)Gag>Tag	p.E568*	ZNF283_ENST00000588797.1_Nonsense_Mutation_p.E429*	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCATACCGGTGAGAAACCTTT	0.413																																																	0													66	73	71					19																	44352455		2188	4289	6477	SO:0001587	stop_gained	0			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1702G>T	19.37:g.44352455G>T	ENSP00000327314:p.Glu568*		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E568*	ENST00000324461.7	37	c.1702	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	G	39	7.352943	0.98231	.	.	ENSG00000167637	ENST00000324461	.	.	.	2.61	2.61	0.31194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	12.3634	0.55215	0.0:0.0:1.0:0.0	.	.	.	.	X	568	.	ENSP00000327314:E568X	E	+	1	0	ZNF283	49044295	1.000000	0.71417	0.985000	0.45067	0.918000	0.54935	5.388000	0.66249	1.440000	0.47531	0.563000	0.77884	GAG	ZNF283	-	pfscan_Znf_C2H2	ENSG00000167637		0.413	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	-	0	85	0	G	NM_181845		44352455	1	tier1	-	no_errors	ENST00000324461	ensembl	human	known	74_37	nonsense	73.26	22	63	SNP	1.000	T	T	44352455	G	T	44352455	4	4	82	1	0	0	0	0	0	1	0	0	17868	1291	45	3	1716	3	ZNF283	19	44352455	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	21988802	44352455	14776528	278	21849											
CCDC8	83987	genome.wustl.edu	37	chr19	46915557	46915557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggcaggttgacgcggcGgcgggcaggcggcgcgctgg	4	4	21	12	7	0	1	0	1	0	0	0	1	0	1	0	8	0	4	0	8	0	1	rs574968989		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:46915557G>A	ENST00000307522.3	-	1	1284	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	171					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TTGACGCGGCGGCGGGCAGGC	0.652																																																	0													28	33	31					19																	46915557		2203	4297	6500	SO:0001583	missense	0			BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25367	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 20"	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.511C>T	19.37:g.46915557G>A	ENSP00000303158:p.Arg171Cys		Q8TB26	Missense_Mutation	SNP	NULL	p.R171C	ENST00000307522.3	37	c.511	CCDS12685.1	19	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859876	0.51482	.	.	ENSG00000169515	ENST00000307522	T	0.20200	2.09	4.66	2.55	0.30701	.	0.346876	0.21248	N	0.077695	T	0.34106	0.0886	M	0.62723	1.935	0.36009	D	0.837952	D	0.89917	1.0	D	0.67382	0.951	T	0.42344	-0.9457	10	0.87932	D	0	-1.5585	3.5307	0.07775	0.2051:0.0:0.5933:0.2016	.	171	Q9H0W5	CCDC8_HUMAN	C	171	ENSP00000303158:R171C	ENSP00000303158:R171C	R	-	1	0	CCDC8	51607397	0.189000	0.23263	0.834000	0.33040	0.397000	0.30659	2.512000	0.45485	1.276000	0.44395	0.655000	0.94253	CGC	CCDC8	-	NULL	ENSG00000169515		0.652	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC8	HGNC	protein_coding	OTTHUMT00000368598.1	-	0	25	0	G	NM_032040		46915557	-1	tier1	-	no_errors	ENST00000307522	ensembl	human	known	74_37	missense	47.37	10	9	SNP	0.718	A	A	46915557	G	A	46915557	3	1	82	1	0	0	0	0	1	0	0	0	2860	1116	39	1	1109	1	CCDC8	19	46915557	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2563102	46915557	12213426	279	21850											
ZC3H4	23211	genome.wustl.edu	37	chr19	47569839	47569839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtggcggtggtggcagcgGgggctgcagcagccttgggc	3	6	23	9	2	0	0	0	0	0	0	0	0	0	0	1	8	4	4	1	8	0	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:47569839G>A	ENST00000253048.5	-	15	3723	c.3686C>T	c.(3685-3687)cCc>cTc	p.P1229L	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1229							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGTGGCAGCGGGGGCTGCAGC	0.706																																																	0													9	12	11					19																	47569839		1568	3381	4949	SO:0001583	missense	0			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"Zinc fingers, CCCH-type domain containing"	17808	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 7"	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.3686C>T	19.37:g.47569839G>A	ENSP00000253048:p.Pro1229Leu		Q9Y420	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P1229L	ENST00000253048.5	37	c.3686	CCDS42582.1	19	.	.	.	.	.	.	.	.	.	.	G	9.362	1.068331	0.20067	.	.	ENSG00000130749	ENST00000253048	T	0.20069	2.1	5.74	3.57	0.40892	.	1.947900	0.02898	N	0.135036	T	0.42607	0.1210	L	0.50333	1.59	0.20403	N	0.999905	D	0.76494	0.999	D	0.64144	0.922	T	0.16808	-1.0390	10	0.87932	D	0	.	10.5226	0.44929	0.0735:0.1341:0.7924:0.0	.	1229	Q9UPT8	ZC3H4_HUMAN	L	1229	ENSP00000253048:P1229L	ENSP00000253048:P1229L	P	-	2	0	ZC3H4	52261679	0.426000	0.25506	0.002000	0.10522	0.004000	0.04260	1.517000	0.35867	0.742000	0.32697	0.563000	0.77884	CCC	ZC3H4	-	NULL	ENSG00000130749		0.706	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	-	0	100	0	G			47569839	-1	tier1	-	no_errors	ENST00000253048	ensembl	human	known	74_37	missense	70.00	18	42	SNP	0.079	A	A	47569839	G	A	47569839	3	1	82	1	0	0	0	0	1	0	0	0	17618	1232	43	3	229	3	ZC3H4	19	47569839	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	654282	47569839	11559144	280	21851											
EMP3	2014	genome.wustl.edu	37	chr19	48830165	48830165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttatactgcttttcgtgGccactttggacaaggtaagc	8	15	9	9	1	1	0	0	0	1	0	2	1	1	1	1	3	3	2	1	3	4	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:48830165G>T	ENST00000270221.6	+	2	365	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	EMP3_ENST00000597279.1_Missense_Mutation_p.A22S|EMP3_ENST00000596315.1_Intron	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	22					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)		p.A22T(1)		lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GCTTTTCGTGGCCACTTTGGA	0.577																																																	1	Substitution - Missense(1)	lung(1)											251	217	228					19																	48830165		2203	4300	6503	SO:0001583	missense	0			U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.64G>T	19.37:g.48830165G>T	ENSP00000270221:p.Ala22Ser		Q6FH01	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_EMP_3,prints_PMP22_EMP_MP20	p.A22S	ENST00000270221.6	37	c.64	CCDS12715.1	19	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397200	0.42512	.	.	ENSG00000142227	ENST00000270221	D	0.89196	-2.48	3.91	2.87	0.33458	.	0.054642	0.64402	D	0.000001	T	0.80544	0.4643	L	0.31157	0.91	0.53005	D	0.99996	P	0.43750	0.816	B	0.43225	0.412	T	0.75422	-0.3323	10	0.09084	T	0.74	.	9.6098	0.39657	0.1027:0.0:0.8973:0.0	.	22	P54852	EMP3_HUMAN	S	22	ENSP00000270221:A22S	ENSP00000270221:A22S	A	+	1	0	EMP3	53521977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.391000	0.66266	1.222000	0.43521	0.650000	0.86243	GCC	EMP3	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000142227		0.577	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMP3	HGNC	protein_coding	OTTHUMT00000465613.1		0	52	0	G	NM_001425		48830165	1			no_errors	ENST00000270221	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	48830165	G	T	48830165	3	4	82	1	0	0	0	0	1	0	0	0	5119	1203	42	3	66	3	EMP3	19	48830165	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	1260326	48830165	10298818	281	21852											
PRMT1	3276	genome.wustl.edu	37	chr19	50180545	50180545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgggtgaagatggcggCagccgaggccgcgaactgca	8	4	19	10	5	0	2	0	1	0	1	0	4	0	2	2	5	4	2	2	5	2	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:50180545C>T	ENST00000391851.4	+	1	137	c.8C>T	c.(7-9)gCa>gTa	p.A3V	PRMT1_ENST00000454376.2_Missense_Mutation_p.A3V|PRMT1_ENST00000532489.1_Intron	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	0					cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		AAGATGGCGGCAGCCGAGGCC	0.687																																																	0													29	43	39					19																	50180545		1977	4176	6153	SO:0001583	missense	0			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"Protein arginine methyltransferases"	5187	protein-coding gene	gene with protein product		602950	"HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2", "HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.8C>T	19.37:g.50180545C>T	ENSP00000375724:p.Ala3Val		B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.A3V	ENST00000391851.4	37	c.8	CCDS42592.1	19	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796554	0.70567	.	.	ENSG00000126457	ENST00000391851;ENST00000454376	T;T	0.27402	1.75;1.67	4.97	4.97	0.65823	.	.	.	.	.	T	0.38612	0.1047	N	0.19112	0.55	0.34547	D	0.710902	D	0.60575	0.988	D	0.70935	0.971	T	0.46148	-0.9212	9	0.40728	T	0.16	0.0046	13.6009	0.62018	0.0:1.0:0.0:0.0	.	3	G5E9B6	.	V	3	ENSP00000375724:A3V;ENSP00000406162:A3V	ENSP00000375724:A3V	A	+	2	0	PRMT1	54872357	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.287000	0.51732	2.575000	0.86900	0.655000	0.94253	GCA	PRMT1	-	NULL	ENSG00000126457		0.687	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT1	HGNC	protein_coding	OTTHUMT00000395065.1	-	0	205	0	C	NM_001536		50180545	1	tier1	-	no_errors	ENST00000454376	ensembl	human	known	74_37	missense	5.53	187	11	SNP	1.000	T	T	50180545	C	T	50180545	3	4	82	1	0	0	0	0	1	0	0	0	12577	710	25	3	10	3	PRMT1	19	50180545	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1350380	50180545	8948438	282	21853											
DPRX	503834	genome.wustl.edu	37	chr19	54140176	54140176	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccccattttggaatcccaAgtttgcgctccaagcttcca	9	12	6	14	1	0	0	0	0	0	0	3	1	3	1	5	1	3	3	5	1	4	5			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:54140176A>C	ENST00000376650.1	+	3	561	c.510A>C	c.(508-510)caA>caC	p.Q170H		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TGGAATCCCAAGTTTGCGCTC	0.438																																																	0													116	113	114					19																	54140176		2203	4300	6503	SO:0001583	missense	0				CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"Homeoboxes / PRD class"	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.510A>C	19.37:g.54140176A>C	ENSP00000365838:p.Gln170His			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Q170H	ENST00000376650.1	37	c.510	CCDS33103.1	19	.	.	.	.	.	.	.	.	.	.	a	6.722	0.501941	0.12822	.	.	ENSG00000204595	ENST00000376650	D	0.94650	-3.48	1.45	-1.42	0.08913	.	.	.	.	.	D	0.86581	0.5967	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	P	0.46172	0.506	T	0.79356	-0.1837	9	0.51188	T	0.08	.	1.5018	0.02478	0.4243:0.0:0.2693:0.3064	.	170	A6NFQ7	DPRX_HUMAN	H	170	ENSP00000365838:Q170H	ENSP00000365838:Q170H	Q	+	3	2	DPRX	58831988	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.275000	0.08525	-0.484000	0.06763	-0.366000	0.07423	CAA	DPRX	-	NULL	ENSG00000204595		0.438	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPRX	HGNC	protein_coding	OTTHUMT00000409880.1	-	0	30	0	A	NM_001012728		54140176	1	tier1	-	no_errors	ENST00000376650	ensembl	human	known	74_37	missense	72.97	10	27	SNP	0.000	C	C	54140176	A	C	54140176	3	2	82	1	0	0	0	0	1	0	0	0	4752	69	3	4	520	4	DPRX	19	54140176	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	3959631	54140176	4988807	283	21854											
EPN1	29924	genome.wustl.edu	37	chr19	56206211	56206211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccacctgcagccacaccaActcccacgccccccacccgg	8	2	5	26	2	0	0	0	0	0	0	1	0	1	0	10	1	3	1	10	1	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:56206211A>G	ENST00000270460.6	+	10	1695	c.1384A>G	c.(1384-1386)Act>Gct	p.T462A	EPN1_ENST00000085079.7_Missense_Mutation_p.T436A|AC010525.7_ENST00000589698.1_lincRNA|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Missense_Mutation_p.T548A|AC010525.6_ENST00000587937.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	462	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		AGCCACACCAACTCCCACGCC	0.706																																																	0													17	29	25					19																	56206211		2056	4183	6239	SO:0001583	missense	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1384A>G	19.37:g.56206211A>G	ENSP00000270460:p.Thr462Ala		Q86ST3|Q9HA18	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.T548A	ENST00000270460.6	37	c.1642	CCDS46199.1	19	.	.	.	.	.	.	.	.	.	.	A	3.333	-0.136253	0.06711	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.13420	2.62;2.62;2.59	4.27	1.07	0.20283	.	0.833948	0.10359	N	0.684147	T	0.05868	0.0153	N	0.08118	0	0.33607	D	0.603127	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.003;0.0;0.001	T	0.42632	-0.9440	10	0.08179	T	0.78	-11.3068	8.1961	0.31398	0.7318:0.0:0.2682:0.0	.	422;548;462;436	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	A	462;436;422;548	ENSP00000270460:T462A;ENSP00000085079:T436A;ENSP00000406209:T548A	ENSP00000085079:T436A	T	+	1	0	EPN1	60898023	0.020000	0.18652	0.226000	0.23910	0.190000	0.23558	0.615000	0.24329	0.298000	0.22638	0.459000	0.35465	ACT	EPN1	-	NULL	ENSG00000063245		0.706	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1		0	100	0	A	NM_013333		56206211	1			no_errors	ENST00000411543	ensembl	human	known	74_37	missense	6.56	56	4	SNP	0.345	G	G	56206211	A	G	56206211	3	3	82	1	0	0	0	0	1	0	0	0	5201	43	2	4	1759	4	EPN1	19	56206211	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	2066035	56206211	2922772	284	21855											
PEG3	5178	genome.wustl.edu	37	chr19	57335020	57335020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccgggtcatgtcgtcgTcgctggtcacgtcactgttg	3	14	13	11	5	3	0	3	0	0	0	7	0	4	0	1	2	0	3	1	2	0	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:57335020T>A	ENST00000326441.9	-	5	785	c.422A>T	c.(421-423)gAc>gTc	p.D141V	PEG3_ENST00000594706.1_5'Flank|PEG3_ENST00000598410.1_Missense_Mutation_p.D15V|ZIM2_ENST00000593711.1_Missense_Mutation_p.D15V|PEG3_ENST00000423103.2_Missense_Mutation_p.D141V|ZIM2_ENST00000601070.1_Missense_Mutation_p.D15V|ZIM2_ENST00000599935.1_Missense_Mutation_p.D15V|PEG3_ENST00000593695.1_Missense_Mutation_p.D15V|ZIM2_ENST00000221722.5_Missense_Mutation_p.D15V|ZIM2_ENST00000593931.1_Missense_Mutation_p.D15V|ZIM2_ENST00000391708.3_Missense_Mutation_p.D15V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	141					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CATGTCGTCGTCGCTGGTCAC	0.557																																																	0													295	215	242					19																	57335020		2203	4300	6503	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.422A>T	19.37:g.57335020T>A	ENSP00000326581:p.Asp141Val		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D141V	ENST00000326441.9	37	c.422	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	12.12	1.844081	0.32606	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.06294	3.32;3.32;4.24;4.24	3.95	3.95	0.45737	Transcription regulator SCAN (1);	0.292616	0.24755	N	0.035873	T	0.08626	0.0214	N	0.24115	0.695	.	.	.	P;P;P;D	0.58268	0.952;0.952;0.952;0.982	P;P;P;P	0.53450	0.601;0.521;0.694;0.726	T	0.10086	-1.0645	9	0.87932	D	0	-20.154	9.4964	0.38991	0.0:0.0:0.0:1.0	.	15;141;74;15	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	V	15;15;141;141;141	ENSP00000375589:D15V;ENSP00000221722:D15V;ENSP00000326581:D141V;ENSP00000403051:D141V	ENSP00000221722:D15V	D	-	2	0	ZIM2	62026832	0.252000	0.23972	0.184000	0.23157	0.022000	0.10575	2.869000	0.48444	2.023000	0.59567	0.460000	0.39030	GAC	PEG3	-	smart_Tscrpt_reg_SCAN	ENSG00000198300		0.557	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	71	0	T			57335020	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	65.00	14	26	SNP	0.211	A	A	57335020	T	A	57335020	3	1	82	1	0	0	0	0	1	0	0	0	11759	1667	58	5	4374	5	PEG3	19	57335020	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	1128809	57335020	1793963	285	21856											
ZNF773	374928	genome.wustl.edu	37	chr19	58016677	58016677	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttttccttaggacttgcAtcttccaagacccatgaaat	10	14	6	11	1	1	2	0	1	1	1	4	3	3	3	3	1	1	2	3	1	3	5	rs199730365		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr19:58016677A>G	ENST00000282292.4	+	3	311	c.171A>G	c.(169-171)gcA>gcG	p.A57A	ZNF773_ENST00000599847.1_Silent_p.A57A|ZNF773_ENST00000598770.1_Silent_p.A56A|AC003005.4_ENST00000601674.1_3'UTR|ZNF773_ENST00000593916.1_Silent_p.A56A	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TAGGACTTGCATCTTCCAAGA	0.468																																																	0													77	75	76					19																	58016677		2202	4281	6483	SO:0001819	synonymous_variant	0			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.171A>G	19.37:g.58016677A>G			Q96DL8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A57	ENST00000282292.4	37	c.171	CCDS33134.1	19																																																																																			ZNF773	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000152439		0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	-	0	54	0	A	NM_198542		58016677	1	tier1	rs199730365	no_errors	ENST00000282292	ensembl	human	known	74_37	silent	14.29	54	9	SNP	0.009	G	G	58016677	A	G	58016677	2	3	82	1	0	0	0	0	0	0	0	1	18194	204	8	4		4	ZNF773	19	58016677	Silent	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	681657	58016677	1112306	286	21857											
SPEF1	25876	genome.wustl.edu	37	chr20	3759184	3759184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgaggcgccggcggccGgtcccagctggggtgggaag	5	3	21	12	5	0	0	0	0	0	0	1	2	1	1	4	8	1	1	4	8	1	0	rs373691129		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:3759184G>A	ENST00000379756.3	-	6	647	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	163						axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						GCCGGCGGCCGGTCCCAGCTG	0.677																																																	0													12	15	14					20																	3759184		1870	4109	5979	SO:0001583	missense	0			AL080154	CCDS13063.2	20p13	2013-09-23	2007-08-20	2007-08-20	ENSG00000101222	ENSG00000101222			15874	protein-coding gene	gene with protein product		610674	"chromosome 20 open reading frame 28"	C20orf28		15979255	Standard	NM_015417		Approved	DKFZP434I114, SPEF1A	uc002wjj.3	Q9Y4P9	OTTHUMG00000031756	ENST00000379756.3:c.487C>T	20.37:g.3759184G>A	ENSP00000369080:p.Arg163Trp		A5YM71|D3DVY0|Q5JX78	Missense_Mutation	SNP	pfam_DUF1042,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain	p.R163W	ENST00000379756.3	37	c.487	CCDS13063.2	20	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298176	0.40694	.	.	ENSG00000101222	ENST00000379756	.	.	.	4.76	1.5	0.22942	.	0.817828	0.10240	N	0.698549	T	0.10165	0.0249	N	0.14661	0.345	0.09310	N	1	P	0.50617	0.937	B	0.28991	0.097	T	0.17349	-1.0372	9	0.66056	D	0.02	-14.8121	5.5911	0.17301	0.0954:0.0:0.5609:0.3438	.	163	Q9Y4P9	SPEF1_HUMAN	W	163	.	ENSP00000369080:R163W	R	-	1	2	SPEF1	3707184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.198000	0.17217	0.594000	0.29761	-0.332000	0.08345	CGG	SPEF1	-	NULL	ENSG00000101222		0.677	SPEF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEF1	HGNC	protein_coding	OTTHUMT00000077760.2	-	0	59	0	G			3759184	-1	tier1	-	no_errors	ENST00000379756	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A	A	3759184	G	A	3759184	3	1	82	1	0	0	0	0	1	0	0	0	15081	1115	39	1	231	1	SPEF1	20	3759184	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		3759184	59266336	287	21858											
PRNP	5621	genome.wustl.edu	37	chr20	4680395	4680395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaccagaacaactttgtgCacgactgcgtcaatatcaca	14	8	7	12	2	2	1	2	0	0	1	2	2	2	1	1	0	5	2	1	0	5	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:4680395C>T	ENST00000379440.4	+	2	816	c.529C>T	c.(529-531)Cac>Tac	p.H177Y	PRNP_ENST00000430350.2_Missense_Mutation_p.H177Y	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						CAACTTTGTGCACGACTGCGT	0.507																																																	0													164	133	143					20																	4680395		2203	4300	6503	SO:0001583	missense	0			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"CD molecules"	9449	protein-coding gene	gene with protein product	"Creutzfeldt-Jakob disease", "Gerstmann-Strausler-Scheinker syndrome", "fatal familial insomnia", "p27-30"	176640	"prion protein (p27-30)"	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.529C>T	20.37:g.4680395C>T	ENSP00000368752:p.His177Tyr			Missense_Mutation	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.H177Y	ENST00000379440.4	37	c.529	CCDS13080.1	20	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635442	0.67130	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.92397	-3.03;-3.03;-3.03;-2.45	5.28	5.28	0.74379	Prion/Doppel protein, beta-ribbon domain (3);	0.665977	0.14689	N	0.304264	D	0.95557	0.8556	M	0.73962	2.25	0.34888	D	0.745285	P;P;D	0.65815	0.71;0.91;0.995	P;P;D	0.68483	0.534;0.826;0.958	D	0.97498	1.0058	10	0.87932	D	0	-16.6843	14.4135	0.67132	0.0:1.0:0.0:0.0	.	177;177;209	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	Y	177;177;177;116;177	ENSP00000368752:H177Y;ENSP00000399376:H177Y;ENSP00000411599:H177Y;ENSP00000415284:H177Y	ENSP00000368752:H177Y	H	+	1	0	PRNP	4628395	0.788000	0.28762	0.998000	0.56505	0.998000	0.95712	1.049000	0.30392	2.480000	0.83734	0.655000	0.94253	CAC	PRNP	-	pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion	ENSG00000171867		0.507	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	-	0	54	0	C	NM_000311		4680395	1	tier1	-	no_errors	ENST00000379440	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.995	T	T	4680395	C	T	4680395	3	4	82	1	0	0	0	0	1	0	0	0	12586	710	25	3	531	3	PRNP	20	4680395	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	921211	4680395	58345125	288	21859											
SLC12A5	57468	genome.wustl.edu	37	chr20	44663608	44663608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggcaaccccaaggaaaGcagtcccttcatcaacagca	14	6	8	13	0	2	1	2	1	0	0	3	2	3	2	3	2	4	3	3	2	4	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:44663608G>T	ENST00000454036.2	+	2	192	c.143G>T	c.(142-144)aGc>aTc	p.S48I	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S25I|SLC12A5_ENST00000608944.1_5'UTR|SLC12A5_ENST00000372315.1_Missense_Mutation_p.S25I	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	48					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCAAGGAAAGCAGTCCCTTC	0.552																																																	0													242	179	201					20																	44663608		2203	4300	6503	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.143G>T	20.37:g.44663608G>T	ENSP00000387694:p.Ser48Ile		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.S48I	ENST00000454036.2	37	c.143	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541381	0.65085	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;T;T;T	0.85013	-1.93;2.02;2.02;2.02	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.88599	0.6480	M	0.69823	2.125	0.53688	D	0.999972	B;P;P	0.47484	0.043;0.896;0.834	B;P;P	0.54210	0.091;0.745;0.66	D	0.88639	0.3174	10	0.54805	T	0.06	.	12.2374	0.54524	0.0:0.0:0.8299:0.1701	.	48;25;25	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	I	48;25;25;25	ENSP00000387694:S48I;ENSP00000361389:S25I;ENSP00000446091:S25I;ENSP00000243964:S25I	ENSP00000243964:S25I	S	+	2	0	SLC12A5	44097015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.425000	0.44723	2.679000	0.91253	0.655000	0.94253	AGC	SLC12A5	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.552	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	73	0	G			44663608	1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	T	T	44663608	G	T	44663608	3	4	82	1	0	0	0	0	1	0	0	0	14431	971	34	3	205	3	SLC12A5	20	44663608	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	39983213	44663608	18361912	289	21860											
EYA2	2139	genome.wustl.edu	37	chr20	45771716	45771716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacaccacgacgtccgtgCgcattggccttatgatggaa	10	8	12	11	4	0	1	0	1	0	0	1	4	1	3	3	3	1	1	3	3	2	2	rs368297287		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:45771716C>T	ENST00000327619.5	+	10	1281	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	EYA2_ENST00000357410.3_Missense_Mutation_p.R303C|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	303					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)	p.R303C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GACGTCCGTGCGCATTGGCCT	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		19649	0		0	False		,,,				2504	0				Pancreas(120;56 1725 18501 25218 43520)												1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	197	148	165		907,907	4	1	20		165	0,8600		0,0,4300	no	missense,missense	EYA2	NM_005244.4,NM_172110.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	303/539,303/460	45771716	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.907C>T	20.37:g.45771716C>T	ENSP00000333640:p.Arg303Cys		Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.R303C	ENST00000327619.5	37	c.907	CCDS13403.1	20	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953744	0.53293	2.27E-4	0.0	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000458636	D;D;D	0.81821	-1.54;-1.54;-1.54	6.08	3.97	0.46021	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.105617	0.64402	D	0.000005	D	0.86155	0.5865	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68765	0.96;0.928;0.928	D	0.87928	0.2708	10	0.72032	D	0.01	-22.8238	15.728	0.77777	0.3686:0.6314:0.0:0.0	.	303;303;303	O00167-3;A8KAG7;O00167	.;.;EYA2_HUMAN	C	303;303;174	ENSP00000333640:R303C;ENSP00000349986:R303C;ENSP00000395427:R174C	ENSP00000333640:R303C	R	+	1	0	EYA2	45205123	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	0.791000	0.26915	1.521000	0.48983	0.655000	0.94253	CGC	EYA2	-	pfam_HAD-like_dom,tigrfam_EYA	ENSG00000064655		0.488	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2		0	31	0	C	NM_005244		45771716	1			no_errors	ENST00000327619	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.999	T	T	45771716	C	T	45771716	3	4	82	1	0	0	0	0	1	0	0	0	5345	768	27	1	941	1	EYA2	20	45771716	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	1108108	45771716	17253804	290	21861											
ZMYND8	23613	genome.wustl.edu	37	chr20	45920598	45920598	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgcatagtcagggtgcTgttccaatggaacgggcttc	8	11	12	10	2	1	0	1	0	0	0	4	1	3	1	2	3	2	4	2	3	3	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:45920598T>C	ENST00000311275.7	-	6	795	c.542A>G	c.(541-543)cAg>cGg	p.Q181R	ZMYND8_ENST00000360911.3_Missense_Mutation_p.Q176R|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Q181R|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Q118R|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Q208R|ZMYND8_ENST00000461685.1_Missense_Mutation_p.Q201R|ZMYND8_ENST00000540497.1_Missense_Mutation_p.Q176R|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Q201R|ZMYND8_ENST00000355972.4_Missense_Mutation_p.Q181R|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Q181R|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Q176R|ZMYND8_ENST00000471951.2_Missense_Mutation_p.Q201R|ZMYND8_ENST00000458360.2_Missense_Mutation_p.Q176R	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	181	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTCAGGGTGCTGTTCCAATGG	0.443																																																	0													109	94	99					20																	45920598		2203	4300	6503	SO:0001583	missense	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.542A>G	20.37:g.45920598T>C	ENSP00000312237:p.Gln181Arg		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.Q208R	ENST00000311275.7	37	c.623		20	.	.	.	.	.	.	.	.	.	.	T	32	5.180891	0.94846	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.84	5.84	0.93424	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	L	0.37800	1.135	0.48087	D	0.999586	P;D;D;D;D;B;D;P;B;D;D;D;D;D;D;D;D	0.69078	0.947;0.964;0.996;0.994;0.997;0.369;0.992;0.935;0.369;0.992;0.994;0.994;0.994;0.982;0.992;0.971;0.971	D;D;D;D;D;B;D;P;B;D;D;D;D;D;D;P;P	0.85130	0.93;0.911;0.997;0.987;0.987;0.421;0.953;0.885;0.268;0.953;0.972;0.993;0.987;0.989;0.979;0.898;0.898	T	0.45440	-0.9261	10	0.66056	D	0.02	-15.3747	16.2169	0.82237	0.0:0.0:0.0:1.0	.	176;208;176;176;175;201;181;176;201;201;181;118;176;176;201;176;181	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	R	176;181;176;181;201;201;181;208;181;118;201;176;176;156	ENSP00000354166:Q176R;ENSP00000312237:Q181R;ENSP00000392964:Q176R;ENSP00000262975:Q181R;ENSP00000420095:Q201R;ENSP00000335537:Q201R;ENSP00000379577:Q181R;ENSP00000439800:Q208R;ENSP00000348246:Q181R;ENSP00000396725:Q118R;ENSP00000418210:Q201R;ENSP00000361093:Q176R;ENSP00000443086:Q176R;ENSP00000413727:Q156R	ENSP00000262975:Q181R	Q	-	2	0	ZMYND8	45354005	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.223000	0.72356	0.533000	0.62120	CAG	ZMYND8	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000101040		0.443	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	-	0	34	0	T	NM_183047		45920598	-1	tier1	-	no_errors	ENST00000536340	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	C	C	45920598	T	C	45920598	3	2	82	1	0	0	0	0	1	0	0	0	17759	1580	55	4	3036	4	ZMYND8	20	45920598	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	148882	45920598	17104922	291	21862											
CBLN4	140689	genome.wustl.edu	37	chr20	54575877	54575878	+	Frame_Shift_Ins	INS	-	-	A																															caaagacagactccaatgtgINSaaaaaattacccacattcac																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:54575877_54575878insA	ENST00000064571.2	-	2	1617_1618	c.317_318insT	c.(316-318)ttcfs	p.F106fs		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	106	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			ACTCCAATGTGAAAAAATTACC	0.312																																																	0																																										SO:0001589	frameshift_variant	0			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"cerebellin precursor-like 1"	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.318dupT	20.37:g.54575883_54575883dupA	ENSP00000064571:p.Phe106fs		A8K0S5	Frame_Shift_Ins	INS	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.T107fs	ENST00000064571.2	37	c.318_317	CCDS13448.1	20																																																																																			CBLN4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000054803		0.312	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN4	HGNC	protein_coding	OTTHUMT00000079783.2		0	23	0	-	NM_080617		54575878	-1	tier1		no_errors	ENST00000064571	ensembl	human	known	74_37	frame_shift_ins	17.07	34	7	INS	1.000:1.000	A	A	54575878	-	A	54575877	7	5	82	1	0	1	1	0	0	0	0	0	2714	1281	45	0	295	0	CBLN4	20	54575877	Frame_Shift_Ins	INS	-	TCGA-L5-A8NH-01A-11D-A37C-09	8655279	54575877	8449643	292	21863											
NPEPL1	79716	genome.wustl.edu	37	chr20	57282220	57282220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagactgcgggggtgctgcGgccgtcctgggggccttcag	3	7	19	12	4	1	1	1	0	0	1	2	2	2	1	3	5	3	1	3	5	0	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:57282220G>A	ENST00000356091.6	+	7	1152	c.864G>A	c.(862-864)gcG>gcA	p.A288A	NPEPL1_ENST00000525967.1_Silent_p.A260A|NPEPL1_ENST00000525817.1_Silent_p.A240A|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	288						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGGGTGCTGCGGCCGTCCTGG	0.672																																																	0													11	17	15					20																	57282220		1938	4056	5994	SO:0001819	synonymous_variant	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.864G>A	20.37:g.57282220G>A			A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.A288	ENST00000356091.6	37	c.864	CCDS46621.1	20																																																																																			NPEPL1	-	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	ENSG00000215440		0.672	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0	185	0	G	NM_024663		57282220	1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	silent	18.83	181	42	SNP	0.914	A	A	57282220	G	A	57282220	2	1	82	1	0	0	0	0	0	0	0	1	10613	1103	39	1		1	NPEPL1	20	57282220	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	2706343	57282220	5743300	293	21864											
ZNF831	128611	genome.wustl.edu	37	chr20	57768421	57768421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggccagtttggccggacCccaagctggaaggaggtgcc	8	5	15	13	1	0	0	0	0	0	0	0	3	0	3	6	6	2	2	6	6	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr20:57768421C>T	ENST00000371030.2	+	1	2347	c.2347C>T	c.(2347-2349)Ccc>Tcc	p.P783S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	783							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P783A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTGGCCGGACCCCAAGCTGGA	0.657																																																	1	Substitution - Missense(1)	lung(1)											29	37	34					20																	57768421		1888	4098	5986	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2347C>T	20.37:g.57768421C>T	ENSP00000360069:p.Pro783Ser		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P783S	ENST00000371030.2	37	c.2347	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	0.595	-0.831569	0.02713	.	.	ENSG00000124203	ENST00000371030	T	0.04015	3.73	3.97	-3.98	0.04082	.	1.446830	0.04338	N	0.353539	T	0.03220	0.0094	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.46005	-0.9222	10	0.18710	T	0.47	-8.0E-4	6.8294	0.23900	0.0:0.3198:0.1281:0.552	.	783	Q5JPB2	ZN831_HUMAN	S	783	ENSP00000360069:P783S	ENSP00000360069:P783S	P	+	1	0	ZNF831	57201816	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.090000	0.11163	-0.631000	0.05560	-0.271000	0.10264	CCC	ZNF831	-	NULL	ENSG00000124203		0.657	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	146	0	C	NM_178457		57768421	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	61.25	62	98	SNP	0.000	T	T	57768421	C	T	57768421	3	4	82	1	0	0	0	0	1	0	0	0	18233	623	22	3	2349	3	ZNF831	20	57768421	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	486201	57768421	5257099	294	21865											
TPTE	7179	genome.wustl.edu	37	chr21	10914363	10914363	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacatgttttctcttacCgaacattttcctaatgaaat	12	17	3	9	1	2	1	1	1	1	0	4	2	3	1	2	0	2	1	2	0	4	7			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr21:10914363C>T	ENST00000361285.4	-	21	1685	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Splice_Site_p.S434S|TPTE_ENST00000342420.5_Splice_Site_p.S414S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	452	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCTCTTACCGAACATTTTC	0.328																																																	0													66	59	62					21																	10914363		2203	4297	6500	SO:0001630	splice_region_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1356+1G>A	21.37:g.10914363C>T			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S452	ENST00000361285.4	37	c.1356	CCDS13560.2	21																																																																																			TPTE	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000166157		0.328	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	148	0	C		Silent	10914363	-1	tier1	-	no_errors	ENST00000361285	ensembl	human	known	74_37	silent	20.00	72	18	SNP	0.768	T	T	10914363	C	T	10914363	5	4	82	1	0	0	0	0	0	0	1	0	16478	666	23	1	315	1	TPTE	21	10914363	Splice_Site	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		10914363	37215532	295	21866											
TUBA8	51807	genome.wustl.edu	37	chr22	18609704	18609704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgctgcatgctctaccGgggcgacgtggtgcccaagg	5	7	16	13	3	1	0	0	0	1	0	1	1	1	0	3	5	5	3	3	5	2	1	rs567090235		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr22:18609704G>T	ENST00000330423.3	+	4	1032	c.959G>T	c.(958-960)cGg>cTg	p.R320L	TUBA8_ENST00000316027.6_Missense_Mutation_p.R254L	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	320					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						ATGCTCTACCGGGGCGACGTG	0.562																																																	0													99	83	88					22																	18609704		2203	4300	6503	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.959G>T	22.37:g.18609704G>T	ENSP00000333326:p.Arg320Leu		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.R320L	ENST00000330423.3	37	c.959	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	20.4	3.985761	0.74589	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84370	-1.84;-1.84;-1.84	5.67	5.67	0.87782	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.99815	4.805	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.98212	1.0473	10	0.87932	D	0	.	19.1191	0.93355	0.0:0.0:1.0:0.0	.	254;344;320	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	L	254;320;344	ENSP00000318575:R254L;ENSP00000333326:R320L;ENSP00000412646:R344L	ENSP00000318575:R254L	R	+	2	0	TUBA8	16989704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.837000	0.97791	0.655000	0.94253	CGG	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin	ENSG00000183785		0.562	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3		0	60	0	G	NM_018943		18609704	1			no_errors	ENST00000330423	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	18609704	G	T	18609704	3	4	82	1	0	0	0	0	1	0	0	0	16799	1116	39	2	973	2	TUBA8	22	18609704	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09		18609704	32694862	296	21867											
BCR	613	genome.wustl.edu	37	chr22	23656185	23656185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggttgcaaaggagagctGcatgctcaacctgctgctgt	8	9	12	12	1	1	1	1	0	0	1	1	2	1	1	2	2	7	7	2	2	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr22:23656185G>A	ENST00000305877.8	+	21	4239	c.3488G>A	c.(3487-3489)tGc>tAc	p.C1163Y	BCR_ENST00000359540.3_Missense_Mutation_p.C1119Y|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1163	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AAGGAGAGCTGCATGCTCAAC	0.592			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													152	138	143					22																	23656185		2203	4300	6503	SO:0001583	missense	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3488G>A	22.37:g.23656185G>A	ENSP00000303507:p.Cys1163Tyr		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.C1163Y	ENST00000305877.8	37	c.3488	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	.	17.64	3.439312	0.63067	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000334149	T;T	0.18174	2.23;2.23	4.51	4.51	0.55191	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	L	0.52823	1.66	0.80722	D	1	P;P;P	0.51933	0.949;0.702;0.86	P;B;P	0.62649	0.905;0.382;0.797	T	0.03231	-1.1058	10	0.41790	T	0.15	.	16.5916	0.84767	0.0:0.0:1.0:0.0	.	752;1119;1163	B4E065;P11274-2;P11274	.;.;BCR_HUMAN	Y	1163;1119;828	ENSP00000303507:C1163Y;ENSP00000352535:C1119Y	ENSP00000303507:C1163Y	C	+	2	0	BCR	21986185	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.540000	0.98080	2.255000	0.74692	0.455000	0.32223	TGC	BCR	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000186716		0.592	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	-	0	138	0	G	NM_004327		23656185	1	tier1	-	no_errors	ENST00000305877	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	A	A	23656185	G	A	23656185	3	1	82	1	0	0	0	0	1	0	0	0	1389	1319	46	3	3570	3	BCR	22	23656185	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	5046481	23656185	27648381	297	21868											
SUSD2	56241	genome.wustl.edu	37	chr22	24584195	24584195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgctccctcaccaggaCgcagctacgcggtgctgttg	6	8	11	16	4	1	0	1	0	0	0	3	1	2	1	2	2	3	5	2	2	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr22:24584195C>T	ENST00000358321.3	+	14	2605	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	782					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTCACCAGGACGCAGCTACGC	0.657																																																	0													70	68	69					22																	24584195		2203	4300	6503	SO:0001583	missense	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2344C>T	22.37:g.24584195C>T	ENSP00000351075:p.Arg782Cys		Q9H5Y6	Missense_Mutation	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.R782C	ENST00000358321.3	37	c.2344	CCDS13824.1	22	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702885	0.68501	.	.	ENSG00000099994	ENST00000358321	T	0.22336	1.96	4.19	3.13	0.36017	.	0.666050	0.13549	N	0.379607	T	0.28300	0.0699	L	0.46670	1.46	0.09310	N	0.999995	D	0.76494	0.999	P	0.53146	0.719	T	0.06023	-1.0850	10	0.56958	D	0.05	-48.5666	9.2932	0.37800	0.2147:0.7853:0.0:0.0	.	782	Q9UGT4	SUSD2_HUMAN	C	782	ENSP00000351075:R782C	ENSP00000351075:R782C	R	+	1	0	SUSD2	22914195	0.513000	0.26194	0.283000	0.24790	0.274000	0.26718	3.911000	0.56378	1.094000	0.41399	0.555000	0.69702	CGC	SUSD2	-	NULL	ENSG00000099994		0.657	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	-	0	38	0	C	NM_019601		24584195	1	tier1	-	no_errors	ENST00000358321	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.070	T	T	24584195	C	T	24584195	3	4	82	1	0	0	0	0	1	0	0	0	15455	536	19	1	2398	1	SUSD2	22	24584195	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	928010	24584195	26720371	298	21869											
SCUBE1	80274	genome.wustl.edu	37	chr22	43619183	43619183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggacagctgggccCggggggaggtcttggcgcga	5	6	20	10	3	1	0	0	0	1	0	1	3	1	2	1	7	3	3	1	7	0	1	rs200093143	byFrequency	TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr22:43619183C>A	ENST00000360835.4	-	11	1373	c.1247G>T	c.(1246-1248)cGg>cTg	p.R416L		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	416					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CAGCTGGGCCCGGGGGGAGGT	0.642																																																	0													78	87	84					22																	43619183		2203	4300	6503	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1247G>T	22.37:g.43619183C>A	ENSP00000354080:p.Arg416Leu		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R416L	ENST00000360835.4	37	c.1247	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	9.531	1.110878	0.20714	.	.	ENSG00000159307	ENST00000360835	D	0.85629	-2.01	5.07	-7.66	0.01277	.	0.696518	0.13602	N	0.375752	T	0.78830	0.4345	M	0.66939	2.045	0.09310	N	1	B	0.23591	0.088	B	0.26770	0.073	T	0.65327	-0.6195	10	0.51188	T	0.08	.	9.3824	0.38322	0.0:0.2112:0.1942:0.5946	.	416	Q8IWY4	SCUB1_HUMAN	L	416	ENSP00000354080:R416L	ENSP00000354080:R416L	R	-	2	0	SCUBE1	41949127	0.006000	0.16342	0.004000	0.12327	0.036000	0.12997	-0.253000	0.08794	-1.167000	0.02779	-0.367000	0.07326	CGG	SCUBE1	-	NULL	ENSG00000159307		0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	-	0	75	0	C	NM_173050		43619183	-1	tier1	-	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.002	A	A	43619183	C	A	43619183	3	1	82	1	0	0	0	0	1	0	0	0	13989	652	23	2	1767	2	SCUBE1	22	43619183	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	19034988	43619183	7685383	299	21870											
CELSR1	9620	genome.wustl.edu	37	chr22	46760103	46760103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttcagcgtctgctccGtcagcgtcagcggcggcggg	3	7	16	15	6	4	0	3	0	1	0	5	0	5	0	2	4	4	1	2	4	0	1	rs149360981		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chr22:46760103G>A	ENST00000262738.3	-	34	8824	c.8825C>T	c.(8824-8826)aCg>aTg	p.T2942M		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2942					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTCTGCTCCGTCAGCGTCAG	0.662																																																	0								G	MET/THR	0,4400		0,0,2200	38	47	44		8825	0.6	0.3	22	dbSNP_134	44	2,8584		0,2,4291	no	missense	CELSR1	NM_014246.1	81	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	2942/3015	46760103	2,12984	2200	4293	6493	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8825C>T	22.37:g.46760103G>A	ENSP00000262738:p.Thr2942Met		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T2942M	ENST00000262738.3	37	c.8825	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	9.593	1.126565	0.20959	0.0	2.33E-4	ENSG00000075275	ENST00000262738	T	0.69175	-0.38	0.637	0.637	0.17735	.	0.104040	0.34460	U	0.003952	T	0.64283	0.2584	M	0.65498	2.005	0.46954	D	0.999262	D	0.61697	0.99	P	0.45971	0.499	T	0.67538	-0.5645	9	0.54805	T	0.06	.	.	.	.	.	2942	Q9NYQ6	CELR1_HUMAN	M	2942	ENSP00000262738:T2942M	ENSP00000262738:T2942M	T	-	2	0	CELSR1	45138767	0.028000	0.19301	0.284000	0.24805	0.366000	0.29705	1.482000	0.35486	0.591000	0.29711	0.313000	0.20887	ACG	CELSR1	-	NULL	ENSG00000075275		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0	48	0	G	NM_014246		46760103	-1			no_errors	ENST00000262738	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.775	A	A	46760103	G	A	46760103	3	1	82	1	0	0	0	0	1	0	0	0	3228	1145	40	1	227	1	CELSR1	22	46760103	Missense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	3140920	46760103	4544463	300	21871											
KLHL34	257240	genome.wustl.edu	37	chrX	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-																															acgttctgggtgagctcccaCtcctcctcctcctcctcttc																										TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65														17	0.00450331	0.0061	0	3775	,	,		12349	0.006		0	False		,,,				2504	0.0031																0										3,72,3595		0,0,3,0,6,40,20,1530,492						4.9	1			25	6,150,6231		0,0,3,3,3,93,51,2244,1647	no	codingComplex	KLHL34	NM_153270.1		0,0,6,3,9,133,71,3774,2139	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.4425,2.0436,2.2969				9,222,9826				SO:0001651	inframe_deletion	0			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.985_987delGAG	X.37:g.21674929_21674931delCTC	ENSP00000368813:p.Glu329del			In_Frame_Del	DEL	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E329in_frame_del	ENST00000379499.2	37	c.987_985	CCDS14199.1	X																																																																																			KLHL34	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000185915		0.65	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1		0	12	0	CTC	NM_153270		21674922	-1			no_errors	ENST00000379499	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.870:0.875:0.865	0	-	21674922	CTC	-	21674920	7	5	82	1	0	1	0	1	0	0	0	0	8414	564	20	0	951	0	KLHL34	23	21674920	In_Frame_Del	DEL	CTC	TCGA-L5-A8NH-01A-11D-A37C-09		21674920	133595640	301	21872											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29938112	29938112	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagtttccatctcattaAttgtggactctgtggaagaa	12	13	10	6	0	2	1	1	0	2	1	4	4	3	4	1	3	0	1	1	3	4	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:29938112A>C	ENST00000378993.1	+	8	1631	c.958A>C	c.(958-960)Att>Ctt	p.I320L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I320L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	320	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATCTCATTAATTGTGGACTC	0.403																																																	0													210	177	188					X																	29938112		2202	4300	6502	SO:0001583	missense	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.958A>C	X.37:g.29938112A>C	ENSP00000368278:p.Ile320Leu		A0AVG4|Q9UJ53	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.I320L	ENST00000378993.1	37	c.958	CCDS14218.1	X	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329895	0.60743	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.67171	-0.25;-0.25	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050355	0.85682	D	0.000000	T	0.64811	0.2632	L	0.43152	1.355	0.39397	D	0.966511	B	0.32283	0.362	B	0.40228	0.323	T	0.63211	-0.6688	9	.	.	.	.	15.3142	0.74059	1.0:0.0:0.0:0.0	.	320	Q9NZN1	IRPL1_HUMAN	L	320	ENSP00000368278:I320L;ENSP00000305200:I320L	.	I	+	1	0	IL1RAPL1	29848033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.000000	0.58554	0.425000	0.28330	ATT	IL1RAPL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000169306		0.403	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	-	0	56	0	A	NM_014271		29938112	1	tier1	-	no_errors	ENST00000302196	ensembl	human	known	74_37	missense	65.12	15	28	SNP	1.000	C	C	29938112	A	C	29938112	3	2	82	1	0	0	0	0	1	0	0	0	7688	101	4	4	984	4	IL1RAPL1	23	29938112	Missense_Mutation	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	8263192	29938112	125332448	302	21873											
CHST7	56548	genome.wustl.edu	37	chrX	46433672	46433672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgtctcgcgagaagcaGcacatctacgtgcatgccac	10	7	11	13	3	2	1	0	0	2	1	3	2	2	1	1	0	5	4	1	0	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:46433672G>A	ENST00000276055.3	+	1	454	c.306G>A	c.(304-306)caG>caA	p.Q102Q		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	102					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						GCGAGAAGCAGCACATCTACG	0.647																																																	0													35	29	31					X																	46433672		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"Sulfotransferases, membrane-bound"	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.306G>A	X.37:g.46433672G>A			O75667	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.Q102	ENST00000276055.3	37	c.306	CCDS14268.1	X																																																																																			CHST7	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000147119		0.647	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST7	HGNC	protein_coding	OTTHUMT00000056362.1	-	0	57	0	G	NM_019886		46433672	1	tier1	-	no_errors	ENST00000276055	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.906	A	A	46433672	G	A	46433672	2	1	82	1	0	0	0	0	0	0	0	1	3416	962	34	3		3	CHST7	23	46433672	Silent	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	16495560	46433672	108836888	303	21874											
FAAH2	158584	genome.wustl.edu	37	chrX	57313372	57313372	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtccaaagtttgcctcAaagacccctcggccggtgac	8	7	13	13	2	1	2	1	1	0	1	3	2	2	2	5	4	1	1	5	4	2	1			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:57313372A>G	ENST00000374900.4	+	1	234	c.114A>G	c.(112-114)tcA>tcG	p.S38S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	38						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGTTTGCCTCAAAGACCCCTC	0.537										HNSCC(52;0.14)																																							0													36	34	34					X																	57313372		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"amidase domain containing"	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.114A>G	X.37:g.57313372A>G			Q86VT2|Q96N98	Silent	SNP	pfam_Amidase,superfamily_Amidase_dom	p.S38	ENST00000374900.4	37	c.114	CCDS14375.1	X																																																																																			FAAH2	-	superfamily_Amidase_dom	ENSG00000165591		0.537	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	-	0	48	0	A	NM_174912		57313372	1	tier1	-	no_errors	ENST00000374900	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.033	G	G	57313372	A	G	57313372	2	3	82	1	0	0	0	0	0	0	0	1	5373	117	5	4		4	FAAH2	23	57313372	Silent	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	10879700	57313372	97957188	304	21875											
ZCCHC5	203430	genome.wustl.edu	37	chrX	77913195	77913195	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctccactgaaggttaaAgtgtattgcagggggaaatc	13	10	12	6	0	1	1	0	1	1	0	3	3	1	2	1	3	1	3	1	3	6	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:77913195A>C	ENST00000321110.1	-	2	1018	c.723T>G	c.(721-723)acT>acG	p.T241T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	241							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAAGGTTAAAGTGTATTGCA	0.502																																																	0													26	25	25					X																	77913195		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.723T>G	X.37:g.77913195A>C			B2RMZ0|Q5JQE9	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.T241	ENST00000321110.1	37	c.723	CCDS14440.1	X																																																																																			ZCCHC5	-	NULL	ENSG00000179300		0.502	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0	51	0	A	NM_152694		77913195	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	silent	81.63	9	40	SNP	0.001	C	C	77913195	A	C	77913195	2	2	82	1	0	0	0	0	0	0	0	1	17639	59	3	4		4	ZCCHC5	23	77913195	Silent	SNP	A	TCGA-L5-A8NH-01A-11D-A37C-09	20599823	77913195	77357365	305	21876											
CSTF2	1478	genome.wustl.edu	37	chrX	100081702	100081702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaccagggcaaatgcCagctgctgtcacaggacctg	10	6	11	14	0	1	0	1	0	0	0	2	1	2	1	4	2	4	4	4	2	1	0			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:100081702C>T	ENST00000372972.2	+	7	798	c.782C>T	c.(781-783)cCa>cTa	p.P261L	CSTF2_ENST00000415585.2_Missense_Mutation_p.P261L	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	261	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGGCAAATGCCAGCTGCTGTC	0.493																																																	0													110	82	91					X																	100081702		2203	4300	6503	SO:0001583	missense	0			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.782C>T	X.37:g.100081702C>T	ENSP00000362063:p.Pro261Leu		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P261L	ENST00000372972.2	37	c.782	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	C	6.890	0.533747	0.13188	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.15372	2.43;2.43	4.56	3.68	0.42216	.	0.382983	0.28393	N	0.015506	T	0.14830	0.0358	N	0.24115	0.695	0.23003	N	0.998441	B;B;B	0.32918	0.017;0.39;0.148	B;B;B	0.38755	0.021;0.281;0.075	T	0.14727	-1.0462	10	0.48119	T	0.1	0.0622	12.8014	0.57588	0.0:0.6938:0.3062:0.0	.	261;244;261	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	L	261;261;237	ENSP00000387996:P261L;ENSP00000362063:P261L	ENSP00000362063:P261L	P	+	2	0	CSTF2	99968358	0.711000	0.27906	0.005000	0.12908	0.116000	0.19942	3.217000	0.51184	0.836000	0.34901	0.462000	0.41574	CCA	CSTF2	-	NULL	ENSG00000101811		0.493	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1		0	49	0	C	NM_001325		100081702	1			no_errors	ENST00000415585	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.279	T	T	100081702	C	T	100081702	3	4	82	1	0	0	0	0	1	0	0	0	3993	594	21	3	808	3	CSTF2	23	100081702	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	22168507	100081702	55188858	306	21877											
BEX1	55859	genome.wustl.edu	37	chrX	102318197	102318197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctcgtttctctttggaCtccattactcctaggagaca	8	14	7	12	1	1	1	0	0	1	1	5	3	3	2	2	2	2	2	2	2	2	4	rs143348113		TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:102318197C>A	ENST00000372728.3	-	3	245	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	2					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II activating transcription factor binding (GO:0001102)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCTCTTTGGACTCCATTACTC	0.478																																																	0													143	148	146					X																	102318197		2199	4279	6478	SO:0001583	missense	0				CCDS35354.1	Xq22.1	2014-03-21			ENSG00000133169	ENSG00000133169			1036	protein-coding gene	gene with protein product		300690				16221301	Standard	NM_018476		Approved		uc004ejt.1	Q9HBH7	OTTHUMG00000022708	ENST00000372728.3:c.6G>T	X.37:g.102318197C>A	ENSP00000361813:p.Glu2Asp		A0AVN1|A8K4J3|Q9NZ33	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like,pirsf_BEX	p.E2D	ENST00000372728.3	37	c.6	CCDS35354.1	X	.	.	.	.	.	.	.	.	.	.	C	3.785	-0.044784	0.07452	.	.	ENSG00000133169	ENST00000372728	T	0.12255	2.7	3.1	-1.02	0.10135	.	0.552403	0.15133	N	0.278725	T	0.08492	0.0211	L	0.46157	1.445	0.09310	N	1	P	0.35155	0.487	B	0.25884	0.064	T	0.30001	-0.9993	10	0.24483	T	0.36	.	6.5655	0.22509	0.0:0.4372:0.0:0.5628	.	2	Q9HBH7	BEX1_HUMAN	D	2	ENSP00000361813:E2D	ENSP00000361813:E2D	E	-	3	2	BEX1	102204853	0.003000	0.15002	0.025000	0.17156	0.290000	0.27261	-1.258000	0.02863	-0.407000	0.07576	-0.340000	0.08031	GAG	BEX1	-	pirsf_BEX	ENSG00000133169		0.478	BEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEX1	HGNC	protein_coding	OTTHUMT00000058925.1		0	42	0	C	NM_018476		102318197	-1			no_errors	ENST00000372728	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.022	A	A	102318197	C	A	102318197	3	1	82	1	0	0	0	0	1	0	0	0	1412	564	20	3	375	3	BEX1	23	102318197	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2236495	102318197	52952363	307	21878											
CAPN6	827	genome.wustl.edu	37	chrX	110495608	110495608	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatagcttgtacttctccTcaacaagctcagtgtatctt	10	14	6	11	1	4	0	2	0	2	0	5	1	4	0	1	0	4	4	1	0	6	6			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:110495608T>A	ENST00000324068.1	-	5	793	c.626A>T	c.(625-627)gAg>gTg	p.E209V	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	209	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTACTTCTCCTCAACAAGCTC	0.433																																																	0													169	121	137					X																	110495608		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.626A>T	X.37:g.110495608T>A	ENSP00000317214:p.Glu209Val		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E209V	ENST00000324068.1	37	c.626	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089625	0.36855	.	.	ENSG00000077274	ENST00000324068	D	0.90324	-2.65	5.97	3.51	0.40186	Peptidase C2, calpain, catalytic domain (3);	0.391519	0.28790	N	0.014131	D	0.85635	0.5742	L	0.49778	1.585	0.18873	N	0.999989	B	0.33777	0.425	B	0.36289	0.221	T	0.78219	-0.2289	10	0.54805	T	0.06	.	4.6643	0.12657	0.2649:0.0:0.2722:0.4629	.	209	Q9Y6Q1	CAN6_HUMAN	V	209	ENSP00000317214:E209V	ENSP00000317214:E209V	E	-	2	0	CAPN6	110382264	0.959000	0.32827	0.999000	0.59377	0.924000	0.55760	1.914000	0.39966	2.018000	0.59344	0.486000	0.48141	GAG	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000077274		0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0	39	0	T			110495608	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.169	A	A	110495608	T	A	110495608	3	1	82	1	0	0	0	0	1	0	0	0	2637	1551	54	5	1335	5	CAPN6	23	110495608	Missense_Mutation	SNP	T	TCGA-L5-A8NH-01A-11D-A37C-09	8177411	110495608	44774952	308	21879											
DOCK11	139818	genome.wustl.edu	37	chrX	117814625	117814625	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacagggctgtatagaaGaacagtgcaaacgccgtaca	18	5	10	8	2	0	2	0	0	0	2	0	2	0	2	1	1	5	4	1	1	8	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:117814625G>T	ENST00000276202.7	+	49	5704	c.5641G>T	c.(5641-5643)Gaa>Taa	p.E1881*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.E1881*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1881	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGTATAGAAGAACAGTGCAA	0.378																																																	0													107	113	111					X																	117814625		2203	4300	6503	SO:0001587	stop_gained	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5641G>T	X.37:g.117814625G>T	ENSP00000276202:p.Glu1881*		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1881*	ENST00000276202.7	37	c.5641	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	46	12.400481	0.99664	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-16.8381	17.0065	0.86394	0.0:0.0:1.0:0.0	.	.	.	.	X	1881	.	ENSP00000276202:E1881X	E	+	1	0	DOCK11	117698653	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.441000	0.97557	2.224000	0.72417	0.422000	0.28245	GAA	DOCK11	-	pfam_DOCK_C	ENSG00000147251		0.378	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1		0	53	0	G	NM_144658		117814625	1			no_errors	ENST00000276202	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	T	T	117814625	G	T	117814625	4	4	82	1	0	0	0	0	0	1	0	0	4700	943	33	3	5835	3	DOCK11	23	117814625	Nonsense_Mutation	SNP	G	TCGA-L5-A8NH-01A-11D-A37C-09	7319017	117814625	37455935	309	21880											
CT47B1	643311	genome.wustl.edu	37	chrX	120008762	120008762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttaccctcgggggccaCggcctcctctgaggtcggtt	3	9	12	17	3	1	1	0	1	1	0	4	1	2	1	6	5	1	1	6	5	1	2			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:120008762C>T	ENST00000371311.3	-	1	1017	c.763G>A	c.(763-765)Gtg>Atg	p.V255M		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	255										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCGGGGGCCACGGCCTCCTCT	0.687																																																	0													30	29	30					X																	120008762		692	1590	2282	SO:0001583	missense	0				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"cancer/testis CT47 family, member 13"	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.763G>A	X.37:g.120008762C>T	ENSP00000360360:p.Val255Met		A6NM97	Missense_Mutation	SNP	NULL	p.V255M	ENST00000371311.3	37	c.763	CCDS48161.1	X	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.571767	0.00895	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.23	-2.46	0.06461	.	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B	0.27594	0.182	B	0.12837	0.008	T	0.05666	-1.0871	8	0.51188	T	0.08	.	2.9144	0.05748	0.3478:0.3814:0.0:0.2708	.	255	P0C2W7	CT47B_HUMAN	M	255	.	ENSP00000360360:V255M	V	-	1	0	CT47B1	119892790	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.742000	0.00378	-3.845000	0.00099	-3.056000	0.00068	GTG	CT47B1	-	NULL	ENSG00000236446		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CT47B1	HGNC	protein_coding	OTTHUMT00000058121.1	-	0	86	0	C	NM_001145718		120008762	-1	tier1	-	no_errors	ENST00000371311	ensembl	human	known	74_37	missense	5.88	79	5	SNP	0.000	T	T	120008762	C	T	120008762	3	4	82	1	0	0	0	0	1	0	0	0	3998	536	19	1	144	1	CT47B1	23	120008762	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	2194137	120008762	35261798	310	21881											
FMR1	2332	genome.wustl.edu	37	chrX	147011714	147011714	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactttcggagtctgcgcaCtaagttgtctctgataatga	9	13	10	9	2	2	2	0	2	2	0	4	3	2	3	0	1	1	3	0	1	2	4			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrX:147011714C>G	ENST00000370475.4	+	7	709	c.581C>G	c.(580-582)aCt>aGt	p.T194S	FMR1_ENST00000218200.8_Missense_Mutation_p.T194S|FMR1_ENST00000370471.3_Missense_Mutation_p.T194S|FMR1_ENST00000334557.6_Missense_Mutation_p.T194S|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000439526.2_Missense_Mutation_p.T194S|FMR1_ENST00000370470.1_Missense_Mutation_p.T194S|FMR1_ENST00000370477.1_Missense_Mutation_p.T194S	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	194					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCTGCGCACTAAGTTGTCT	0.398									Fragile X syndrome																																								0													141	117	125					X																	147011714		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"premature ovarian failure 1"	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.581C>G	X.37:g.147011714C>G	ENSP00000359506:p.Thr194Ser		A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.T194S	ENST00000370475.4	37	c.581	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528670	0.64860	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.56275	1.22;0.47;1.25;1.23;1.53;1.25;1.25	5.06	5.06	0.68205	.	0.043932	0.85682	D	0.000000	T	0.49338	0.1551	M	0.62723	1.935	0.80722	D	1	B;B;P;P;P	0.43578	0.086;0.264;0.64;0.811;0.778	B;B;B;B;B	0.37989	0.066;0.074;0.213;0.227;0.262	T	0.50074	-0.8870	10	0.22109	T	0.4	-30.983	16.6447	0.85173	0.0:1.0:0.0:0.0	.	194;194;110;194;194	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	S	194	ENSP00000218200:T194S;ENSP00000359502:T194S;ENSP00000359508:T194S;ENSP00000359506:T194S;ENSP00000355115:T194S;ENSP00000395923:T194S;ENSP00000359501:T194S	ENSP00000218200:T194S	T	+	2	0	FMR1	146819406	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.924000	0.70054	2.221000	0.72209	0.600000	0.82982	ACT	FMR1	-	NULL	ENSG00000102081		0.398	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	-	0	30	0	C	NM_002024		147011714	1	tier1	-	no_errors	ENST00000370475	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	147011714	C	G	147011714	3	3	82	1	0	0	0	0	1	0	0	0	5982	565	20	5	607	5	FMR1	23	147011714	Missense_Mutation	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09	27002952	147011714	8258846	311	21882											
NLGN4Y	22829	genome.wustl.edu	37	chrY	16953045	16953045	+	3'UTR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccatgattccaaacaCattgatggggatgcagcctt	12	10	8	11	0	1	2	1	2	0	0	2	3	2	3	3	2	3	1	3	2	1	3			TCGA-L5-A8NH-01A-11D-A37C-09	TCGA-L5-A8NH-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4eeafbb8-0bb7-43f2-8095-6dcd260ba5f8	ddee75f6-4848-4756-b16c-c467cf1cb918	g.chrY:16953045C>A	ENST00000476359.1	+	0	2899							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ATTCCAAACACATTGATGGGG	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"neuroligin 4, Y linked"			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2896C>A	Y.37:g.16953045C>A			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	pfam_CarbesteraseB,prints_Neuroligin	p.T842K	ENST00000476359.1	37	c.2525		Y																																																																																			NLGN4Y	-	NULL	ENSG00000165246		0.498	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2	-	0	61	0	C	NM_014893		16953045	1	tier1	-	no_errors	ENST00000382868	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A	A	16953045	C	A	16953045	1	1	82	0	1	0	0	0	0	0	0	0	10504	478	17	3		3	NLGN4Y	24	16953045	3'UTR	SNP	C	TCGA-L5-A8NH-01A-11D-A37C-09		16953045	42420521	312	21883											
PANK4	55229	genome.wustl.edu	37	chr1	2444348	2444348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacacggctttggcccccCagtcgaagacattccccgcc	8	6	9	18	3	0	2	0	0	0	2	2	3	1	2	6	2	0	1	6	2	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:2444348C>G	ENST00000378466.3	-	13	1718	c.1706G>C	c.(1705-1707)tGg>tCg	p.W569S	PANK4_ENST00000435556.3_Missense_Mutation_p.W530S	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	569					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTTGGCCCCCCAGTCGAAGAC	0.697																																																	0													74	85	81					1																	2444348		2203	4299	6502	SO:0001583	missense	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.1706G>C	1.37:g.2444348C>G	ENSP00000367727:p.Trp569Ser		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.W569S	ENST00000378466.3	37	c.1706	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585405	0.86748	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	T;T	0.06528	3.29;3.29	5.33	5.33	0.75918	Domain of unknown function DUF89 (2);	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.23084	-1.0198	10	0.87932	D	0	-20.1247	17.9869	0.89158	0.0:1.0:0.0:0.0	.	530;569	E9PHT6;Q9NVE7	.;PANK4_HUMAN	S	569;530	ENSP00000367727:W569S;ENSP00000421433:W530S	ENSP00000367727:W569S	W	-	2	0	PANK4	2434208	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.321000	0.79088	2.485000	0.83878	0.561000	0.74099	TGG	PANK4	-	pfam_DUF89,superfamily_DUF89,pirsf_PanK_long	ENSG00000157881		0.697	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	-	0	161	0	C			2444348	-1	tier1	-	no_errors	ENST00000378466	ensembl	human	known	74_37	missense	17.91	165	36	SNP	1.000	G	G	2444348	C	G	2444348	3	3	83	1	0	0	0	0	1	0	0	0	11458	595	21	5	643	5	PANK4	1	2444348	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09		2444348	246806273	1	21884											
AJAP1	55966	genome.wustl.edu	37	chr1	4832493	4832493	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgagaccctgcagtgttcTcacgagtgcgtcagggcatc	9	8	12	12	3	2	1	2	0	1	1	4	3	2	1	1	1	3	3	1	1	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:4832493T>C	ENST00000378191.4	+	4	1452	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	AJAP1_ENST00000378190.3_Silent_p.S357S	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	357	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGCAGTGTTCTCACGAGTGCG	0.587																																																	0													74	65	68					1																	4832493		2203	4300	6503	SO:0001819	synonymous_variant	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"transmembrane protein SHREW1"	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1071T>C	1.37:g.4832493T>C			Q9Y229	Silent	SNP	NULL	p.S357	ENST00000378191.4	37	c.1071	CCDS54.1	1																																																																																			AJAP1	-	NULL	ENSG00000196581		0.587	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3	-	0	39	0	T	NM_018836		4832493	1	tier1	-	no_errors	ENST00000378190	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.007	C	C	4832493	T	C	4832493	2	2	83	1	0	0	0	0	0	0	0	1	438	1538	54	4		4	AJAP1	1	4832493	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	2388145	4832493	244418128	2	21885											
CHD5	26038	genome.wustl.edu	37	chr1	6196804	6196804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccttggactggttgttcTtgaggcggtgggcctcatct	4	14	13	10	1	3	1	1	1	2	0	3	2	3	2	2	5	1	2	2	5	1	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:6196804T>C	ENST00000262450.3	-	16	2657	c.2558A>G	c.(2557-2559)aAg>aGg	p.K853R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGGTTGTTCTTGAGGCGGTG	0.667																																																	0													36	40	39					1																	6196804		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2558A>G	1.37:g.6196804T>C	ENSP00000262450:p.Lys853Arg		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K853R	ENST00000262450.3	37	c.2558	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308136	0.81247	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.95001	-3.58	4.57	4.57	0.56435	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.97077	0.9045	M	0.82716	2.605	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.97704	1.0186	10	0.72032	D	0.01	-34.9455	14.2217	0.65830	0.0:0.0:0.0:1.0	.	853	Q8TDI0	CHD5_HUMAN	R	853;369;261;261	ENSP00000262450:K853R	ENSP00000262450:K853R	K	-	2	0	CHD5	6119391	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.944000	0.87722	1.828000	0.53243	0.260000	0.18958	AAG	CHD5	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000116254		0.667	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	-	0	78	0	T	NM_015557		6196804	-1	tier1	-	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	19.79	77	19	SNP	1.000	C	C	6196804	T	C	6196804	3	2	83	1	0	0	0	0	1	0	0	0	3335	1609	56	4	3410	4	CHD5	1	6196804	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	1364311	6196804	243053817	3	21886											
C1orf158	93190	genome.wustl.edu	37	chr1	12806383	12806383	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcaaatccttaacatgtTtttgactgcagtaaatccac	12	12	8	9	0	0	1	0	1	0	0	2	1	2	1	2	2	2	4	2	2	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:12806383T>G	ENST00000288048.5	+	1	221	c.5T>G	c.(4-6)tTt>tGt	p.F2C	C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.F2C	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	2										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTTAACATGTTTTTGACTGCA	0.473																																																	0													70	70	70					1																	12806383		2203	4300	6503	SO:0001583	missense	0			BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.5T>G	1.37:g.12806383T>G	ENSP00000288048:p.Phe2Cys		Q5VUY4	Missense_Mutation	SNP	NULL	p.F2C	ENST00000288048.5	37	c.5	CCDS147.1	1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085649	0.55861	.	.	ENSG00000157330	ENST00000288048;ENST00000376210	T;T	0.53423	0.71;0.62	5.95	4.84	0.62591	.	0.973755	0.08452	N	0.943718	T	0.57770	0.2076	L	0.51422	1.61	0.09310	N	1	D;D	0.67145	0.996;0.993	P;P	0.59288	0.855;0.8	T	0.47058	-0.9146	10	0.62326	D	0.03	-1.9521	7.9877	0.30222	0.0:0.0884:0.0:0.9116	.	2;2	B4DQE0;Q8N1D5	.;CA158_HUMAN	C	2	ENSP00000288048:F2C;ENSP00000365383:F2C	ENSP00000288048:F2C	F	+	2	0	C1orf158	12728970	0.061000	0.20836	0.343000	0.25615	0.049000	0.14656	1.231000	0.32624	2.279000	0.76181	0.533000	0.62120	TTT	C1orf158	-	NULL	ENSG00000157330		0.473	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf158	HGNC	protein_coding	OTTHUMT00000005325.1	-	0	61	0	T	NM_152290		12806383	1	tier1	-	no_errors	ENST00000288048	ensembl	human	known	74_37	missense	23.71	74	23	SNP	0.067	G	G	12806383	T	G	12806383	3	3	83	1	0	0	0	0	1	0	0	0	2014	1841	64	4	7	4	C1orf158	1	12806383	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	6609579	12806383	236444238	4	21887											
GPATCH3	63906	genome.wustl.edu	37	chr1	27226852	27226852	+	Missense_Mutation	SNP	G	G	A																															gctaaaatagctccgtaaatGggccgagcgcaacacggagg																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:27226852G>A	ENST00000361720.5	-	1	105	c.82C>T	c.(82-84)Cat>Tat	p.H28Y		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	28							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCCGTAAATGGGCCGAGCGC	0.632																																																	0													38	38	38					1																	27226852		2203	4299	6502	SO:0001583	missense	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.82C>T	1.37:g.27226852G>A	ENSP00000354645:p.His28Tyr		Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.H28Y	ENST00000361720.5	37	c.82	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473089	0.63737	.	.	ENSG00000198746	ENST00000361720;ENST00000536641	T	0.29917	1.55	5.5	5.5	0.81552	.	0.294700	0.38436	N	0.001694	T	0.22475	0.0542	N	0.19112	0.55	0.80722	D	1	B	0.24533	0.105	B	0.22601	0.04	T	0.03739	-1.1008	10	0.72032	D	0.01	-3.6893	13.905	0.63828	0.0:0.1522:0.8478:0.0	.	28	Q96I76	GPTC3_HUMAN	Y	28	ENSP00000354645:H28Y	ENSP00000354645:H28Y	H	-	1	0	GPATCH3	27099439	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	4.162000	0.58177	2.854000	0.98071	0.655000	0.94253	CAT	GPATCH3	-	NULL	ENSG00000198746		0.632	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	-	0	73	0	G	NM_022078		27226852	-1	tier1	-	no_errors	ENST00000361720	ensembl	human	known	74_37	missense	15.62	81	15	SNP	1.000	A	A	27226852	G	A	27226852	3	1	83	1	0	0	0	0	1	0	0	0	6618	1348	47	3	1523	3	GPATCH3	1	27226852	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	14420469	27226852	222023769	5	21888	86	2									
GPATCH3	63906	genome.wustl.edu	37	chr1	27226854	27226856	+	In_Frame_Del	DEL	GCC	GCC	-																															taaaatagctccgtaaatggGccgagcgcaacacggagggg																								rs147405790		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:27226854_27226856delGCC	ENST00000361720.5	-	1	101_103	c.78_80delGGC	c.(76-81)tcggcc>tcc	p.A27del		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	27							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CCGTAAATGGGCCGAGCGCAACA	0.626																																																	0																																										SO:0001651	inframe_deletion	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.78_80delGGC	1.37:g.27226854_27226856delGCC	ENSP00000354645:p.Ala27del		Q5JYH2|Q8NDJ2|Q9H9Z3	In_Frame_Del	DEL	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.A27in_frame_del	ENST00000361720.5	37	c.80_78	CCDS290.1	1																																																																																			GPATCH3	-	NULL	ENSG00000198746		0.626	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1		0	73	0	GCC	NM_022078		27226856	-1	tier1		no_errors	ENST00000361720	ensembl	human	known	74_37	in_frame_del	13.83	81	13	DEL	1.000:1.000:1.000	-	-	27226856	GCC	-	27226854	7	5	83	1	0	1	0	1	0	0	0	0	6618	1203	42	0	1525	0	GPATCH3	1	27226854	In_Frame_Del	DEL	GCC	TCGA-L5-A8NI-01A-11D-A37C-09	2	27226854	222023767	6	21889	86	2									
XKR8	55113	genome.wustl.edu	37	chr1	28293308	28293308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgagtggctgtaccGggtgacggtggccaccatcc	6	7	14	14	3	0	1	0	1	0	0	2	2	2	1	5	4	2	3	5	4	1	1	rs202057519		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:28293308G>T	ENST00000373884.5	+	3	1393	c.785G>T	c.(784-786)cGg>cTg	p.R262L		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	262					engulfment of apoptotic cell (GO:0043652)|phosphatidylserine exposure on apoptotic cell surface (GO:0070782)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		TGGCTGTACCGGGTGACGGTG	0.642																																																	0													25	26	26					1																	28293308		2203	4300	6503	SO:0001583	missense	0			AK091615	CCDS315.1	1p35.3	2008-02-05	2006-01-12		ENSG00000158156	ENSG00000158156			25508	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 8"			12477932	Standard	NM_018053		Approved	FLJ10307	uc001bph.1	Q9H6D3	OTTHUMG00000003912	ENST00000373884.5:c.785G>T	1.37:g.28293308G>T	ENSP00000362991:p.Arg262Leu			Missense_Mutation	SNP	pfam_Transport_prot_XK	p.R262L	ENST00000373884.5	37	c.785	CCDS315.1	1	.	.	.	.	.	.	.	.	.	.	g	22.9	4.354752	0.82243	.	.	ENSG00000158156	ENST00000373884	T	0.65549	-0.16	5.47	4.56	0.56223	.	0.066911	0.64402	D	0.000008	T	0.78861	0.4350	M	0.87180	2.865	0.48762	D	0.999704	D	0.89917	1.0	D	0.91635	0.999	T	0.78889	-0.2026	10	0.10111	T	0.7	.	14.4933	0.67667	0.0707:0.0:0.9293:0.0	.	262	Q9H6D3	XKR8_HUMAN	L	262	ENSP00000362991:R262L	ENSP00000362991:R262L	R	+	2	0	XKR8	28165895	1.000000	0.71417	0.994000	0.49952	0.791000	0.44710	6.314000	0.72848	1.324000	0.45282	-0.119000	0.15052	CGG	XKR8	-	pfam_Transport_prot_XK	ENSG00000158156		0.642	XKR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR8	HGNC	protein_coding	OTTHUMT00000011175.1	-	0	95	0	G	NM_018053		28293308	1	tier1	-	no_errors	ENST00000373884	ensembl	human	known	74_37	missense	5.32	89	5	SNP	1.000	T	T	28293308	G	T	28293308	3	4	83	1	0	0	0	0	1	0	0	0	17486	1116	39	2	795	2	XKR8	1	28293308	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1066454	28293308	220957313	7	21890											
ADC	113451	genome.wustl.edu	37	chr1	33560275	33560275	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggaccttggtggtggCttccctggcacagaaggggc	5	10	16	10	0	1	1	0	0	1	1	2	2	2	2	2	7	0	3	2	7	1	3	rs148883141	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:33560275C>G	ENST00000294517.6	+	8	1301	c.714C>G	c.(712-714)ggC>ggG	p.G238G	ADC_ENST00000398167.1_Silent_p.G238G|ADC_ENST00000373443.3_Silent_p.G238G|ADC_ENST00000373441.1_Silent_p.G238G|ADC_ENST00000358680.3_Intron|ADC_ENST00000373440.1_Intron|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		238					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TTGGTGGTGGCTTCCCTGGCA	0.582											OREG0013339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80	82	81					1																	33560275		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000294517.6:c.714C>G	1.37:g.33560275C>G		841	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.G238	ENST00000294517.6	37	c.714	CCDS375.1	1																																																																																			ADC	-	pfam_De-COase2_N	ENSG00000142920		0.582	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	-	0	79	0	C			33560275	1	tier1	-	no_errors	ENST00000373441	ensembl	human	known	74_37	silent	31.03	40	18	SNP	0.999	G	G	33560275	C	G	33560275	2	3	83	1	0	0	0	0	0	0	0	1	287	784	28	5		5	ADC	1	33560275	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	5266967	33560275	215690346	8	21891											
ZSCAN20	7579	genome.wustl.edu	37	chr1	33959192	33959192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcaaaccttcaacctTgtgtcctaaagccccagaca	11	10	6	14	0	2	1	2	0	0	1	3	1	3	1	5	0	4	1	5	0	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:33959192T>G	ENST00000361328.3	+	7	2003	c.1850T>G	c.(1849-1851)tTg>tGg	p.L617W		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	617					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTTCAACCTTGTGTCCTAAA	0.517																																																	0													122	123	123					1																	33959192		2012	4176	6188	SO:0001583	missense	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"-", "Zinc fingers, C2H2-type"	13093	protein-coding gene	gene with protein product		611315	"zinc finger protein 31 (KOX 29)", "zinc finger protein 31"	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1850T>G	1.37:g.33959192T>G	ENSP00000355053:p.Leu617Trp		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L617W	ENST00000361328.3	37	c.1850	CCDS41300.1	1	.	.	.	.	.	.	.	.	.	.	T	3.218	-0.160150	0.06502	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	3.9	-0.731	0.11151	.	0.835651	0.10529	N	0.664015	T	0.26702	0.0653	L	0.50333	1.59	0.09310	N	1	P;P	0.50156	0.932;0.824	B;B	0.40165	0.321;0.219	T	0.18777	-1.0326	9	0.66056	D	0.02	2.9667	3.5939	0.07998	0.0:0.3995:0.1942:0.4063	.	616;617	P17040-3;P17040	.;ZSC20_HUMAN	W	617;551;551	.	ENSP00000324450:L617W	L	+	2	0	ZSCAN20	33731779	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.211000	0.09332	-0.113000	0.11958	-0.408000	0.06270	TTG	ZSCAN20	-	NULL	ENSG00000121903		0.517	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	-	0	21	0	T	NM_145238		33959192	1	tier1	-	no_errors	ENST00000361328	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.000	G	G	33959192	T	G	33959192	3	3	83	1	0	0	0	0	1	0	0	0	18280	1821	63	4	1872	4	ZSCAN20	1	33959192	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	398917	33959192	215291429	9	21892											
ZMYM4	9202	genome.wustl.edu	37	chr1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A																															gtttgtcaacatatgaactgINSaaaaaaaaacctattgttac																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"Zinc fingers, MYM type"	13055	protein-coding gene	gene with protein product		613568	"zinc finger protein 262"	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs		A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.P430fs	ENST00000314607.6	37	c.1281_1282	CCDS389.1	1																																																																																			ZMYM4	-	NULL	ENSG00000146463		0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3		0	43	0	-	NM_005095		35846960	1	tier1		no_errors	ENST00000314607	ensembl	human	known	74_37	frame_shift_ins	12.12	29	4	INS	0.987:1.000	A	A	35846960	-	A	35846959	7	5	83	1	0	1	1	0	0	0	0	0	17750	1277	45	0	1311	0	ZMYM4	1	35846959	Frame_Shift_Ins	INS	-	TCGA-L5-A8NI-01A-11D-A37C-09	1887767	35846959	213403662	10	21893											
MAST2	23139	genome.wustl.edu	37	chr1	46499769	46499769	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggagctccctgttccgCaagatcaccaagcaagcatc	14	6	8	13	1	1	1	1	0	0	1	4	2	3	2	3	1	3	5	3	1	5	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:46499769C>A	ENST00000361297.2	+	28	3982	c.3699C>A	c.(3697-3699)cgC>cgA	p.R1233R	MAST2_ENST00000372009.2_Silent_p.R1140R	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCTGTTCCGCAAGATCACCA	0.607																																																	0													110	119	116					1																	46499769		2093	4228	6321	SO:0001819	synonymous_variant	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3699C>A	1.37:g.46499769C>A				Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R1233	ENST00000361297.2	37	c.3699	CCDS41326.1	1																																																																																			MAST2	-	NULL	ENSG00000086015		0.607	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	52	0	C	NM_015112		46499769	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	silent	7.84	46	4	SNP	1.000	A	A	46499769	C	A	46499769	2	1	83	1	0	0	0	0	0	0	0	1	9363	697	25	3		3	MAST2	1	46499769	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	10652810	46499769	202750852	11	21894											
HIAT1	64645	genome.wustl.edu	37	chr1	100547618	100547618	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcagtactgctggctctGcttgttgccttgtttattcc	3	19	9	10	0	2	0	1	0	1	0	3	0	3	0	2	1	4	7	2	1	2	8	rs189326739		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:100547618G>C	ENST00000370152.3	+	12	1462	c.1326G>C	c.(1324-1326)ctG>ctC	p.L442L	RP4-714D9.2_ENST00000432294.1_RNA|SASS6_ENST00000462159.1_5'Flank	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	442					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGCTGGCTCTGCTTGTTGCCT	0.433																																																	0													111	104	106					1																	100547618		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.1326G>C	1.37:g.100547618G>C			Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.L442	ENST00000370152.3	37	c.1326	CCDS763.1	1																																																																																			HIAT1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000156875		0.433	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIAT1	HGNC	protein_coding	OTTHUMT00000029657.1	-	0	29	0	G	NM_033055		100547618	1	tier1	-	no_errors	ENST00000370152	ensembl	human	known	74_37	silent	9.52	38	4	SNP	1.000	C	C	100547618	G	C	100547618	2	2	83	1	0	0	0	0	0	0	0	1	7124	1306	46	5		5	HIAT1	1	100547618	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	54047849	100547618	148703003	12	21895											
C1orf194	127003	genome.wustl.edu	37	chr1	109649280	109649280	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagggaattggatcttggTtctagaagaaggcataggga	12	10	14	5	0	2	2	0	0	2	2	3	5	3	5	1	5	0	2	1	5	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:109649280T>C	ENST00000369948.3	-	4	391	c.316A>G	c.(316-318)Acc>Gcc	p.T106A	C1orf194_ENST00000369945.3_Splice_Site_p.T67A|C1orf194_ENST00000369949.4_Splice_Site_p.T94A			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	106										large_intestine(2)|lung(2)|ovary(2)	6						TGGATCTTGGTTCTAGAAGAA	0.443																																																	0													89	88	88					1																	109649280		1568	3582	5150	SO:0001630	splice_region_variant	0				CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.315-1A>G	1.37:g.109649280T>C			Q5T5A3	Missense_Mutation	SNP	pfam_DUF3695	p.T106A	ENST00000369948.3	37	c.316		1	.	.	.	.	.	.	.	.	.	.	T	0.140	-1.103127	0.01828	.	.	ENSG00000179902	ENST00000369949;ENST00000369948;ENST00000369945	.	.	.	4.95	1.2	0.21068	.	1.090560	0.07082	N	0.837221	T	0.09247	0.0228	L	0.40543	1.245	0.20403	N	0.999906	B;B	0.16802	0.002;0.019	B;B	0.17098	0.001;0.017	T	0.28004	-1.0057	9	0.07482	T	0.82	-0.8412	2.1247	0.03735	0.1567:0.0895:0.1629:0.5909	.	94;106	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	A	94;106;67	.	ENSP00000358961:T67A	T	-	1	0	C1orf194	109450803	0.007000	0.16637	0.329000	0.25429	0.076000	0.17211	-0.377000	0.07456	0.234000	0.21139	-1.035000	0.02400	ACC	C1orf194	-	pfam_DUF3695	ENSG00000179902		0.443	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	C1orf194	HGNC	protein_coding	OTTHUMT00000032416.2		0	82	0	T	NM_001122961	Missense_Mutation	109649280	-1			no_errors	ENST00000369948	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.223	C	C	109649280	T	C	109649280	5	2	83	1	0	0	0	0	0	0	1	0	2032	1739	60	4	201	4	C1orf194	1	109649280	Splice_Site	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	9101662	109649280	139601341	13	21896											
CD58	965	genome.wustl.edu	37	chr1	117078739	117078739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctccataggacaatccCatgagtacattataagtcct	13	12	6	10	0	0	1	0	1	0	0	3	2	3	2	3	1	2	2	3	1	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:117078739C>A	ENST00000369489.5	-	3	542	c.476G>T	c.(475-477)tGg>tTg	p.W159L	CD58_ENST00000457047.2_Missense_Mutation_p.W159L|CD58_ENST00000369487.3_Missense_Mutation_p.W159L	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	159					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.W159*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGGACAATCCCATGAGTACAT	0.378																																																	1	Substitution - Nonsense(1)	endometrium(1)											125	115	119					1																	117078739		2203	4300	6503	SO:0001583	missense	0			BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"CD molecules"	1688	protein-coding gene	gene with protein product		153420	"CD58 antigen, (lymphocyte function-associated antigen 3)"	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.476G>T	1.37:g.117078739C>A	ENSP00000358501:p.Trp159Leu		A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	NULL	p.W159L	ENST00000369489.5	37	c.476	CCDS888.1	1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797644	0.50208	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000369487	T;T;T	0.70282	0.28;0.3;-0.47	3.36	3.36	0.38483	.	0.258733	0.33959	N	0.004400	T	0.66848	0.2831	L	0.36672	1.1	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.984;0.999	T	0.58132	-0.7690	10	0.87932	D	0	-4.9982	10.4986	0.44791	0.0:1.0:0.0:0.0	.	159;159;159	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	L	159	ENSP00000358501:W159L;ENSP00000409080:W159L;ENSP00000358499:W159L	ENSP00000358499:W159L	W	-	2	0	CD58	116880262	0.069000	0.21087	0.068000	0.19968	0.018000	0.09664	2.213000	0.42844	2.170000	0.68504	0.655000	0.94253	TGG	CD58	-	NULL	ENSG00000116815		0.378	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD58	HGNC	protein_coding	OTTHUMT00000059036.1		0	49	0	C	NM_001779		117078739	-1			no_errors	ENST00000369489	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.077	A	A	117078739	C	A	117078739	3	1	83	1	0	0	0	0	1	0	0	0	3032	595	21	3	296	3	CD58	1	117078739	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	7429459	117078739	132171882	14	21897											
SPAG17	200162	genome.wustl.edu	37	chr1	118583397	118583397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaatctgccccccatcaGaaggatacaggtagtaattt	12	11	7	11	0	3	1	2	0	1	1	3	2	3	2	3	2	2	2	3	2	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:118583397G>A	ENST00000336338.5	-	22	3187	c.3122C>T	c.(3121-3123)tCt>tTt	p.S1041F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1041						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCCCCCATCAGAAGGATACAG	0.348																																																	0													131	112	119					1																	118583397		2203	4300	6503	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3122C>T	1.37:g.118583397G>A	ENSP00000337804:p.Ser1041Phe		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.S1041F	ENST00000336338.5	37	c.3122	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.728916	0.69074	.	.	ENSG00000155761	ENST00000336338	T	0.30182	1.54	5.7	5.7	0.88788	.	0.356930	0.26738	N	0.022745	T	0.43166	0.1235	L	0.51422	1.61	0.34375	D	0.692487	D	0.76494	0.999	D	0.73380	0.98	T	0.40156	-0.9578	10	0.72032	D	0.01	.	18.0154	0.89238	0.0:0.0:1.0:0.0	.	1041	Q6Q759	SPG17_HUMAN	F	1041	ENSP00000337804:S1041F	ENSP00000337804:S1041F	S	-	2	0	SPAG17	118384920	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	6.160000	0.71862	2.691000	0.91804	0.557000	0.71058	TCT	SPAG17	-	NULL	ENSG00000155761		0.348	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0	96	0	G	NM_206996		118583397	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	missense	28.09	64	25	SNP	0.998	A	A	118583397	G	A	118583397	3	1	83	1	0	0	0	0	1	0	0	0	15026	942	33	3	3657	3	SPAG17	1	118583397	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1504658	118583397	130667224	15	21898											
HRNR	388697	genome.wustl.edu	37	chr1	152187200	152187200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccggacccatgtcggccgCgactaggagactggccagat	10	5	13	13	4	0	2	0	0	0	2	1	5	0	3	4	4	1	0	4	4	2	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:152187200C>T	ENST00000368801.2	-	3	6980	c.6905G>A	c.(6904-6906)cGc>cAc	p.R2302H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2302					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGGCCGCGACTAGGAGA	0.612																																																	0													8	14	12					1																	152187200		1562	3800	5362	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6905G>A	1.37:g.152187200C>T	ENSP00000357791:p.Arg2302His		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R2302H	ENST00000368801.2	37	c.6905	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	-	6.536	0.467234	0.12402	.	.	ENSG00000197915	ENST00000368801	T	0.19394	2.15	3.07	-4.2	0.03823	.	.	.	.	.	T	0.02342	0.0072	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43621	-0.9380	9	0.24483	T	0.36	.	1.6962	0.02863	0.1323:0.2941:0.134:0.4396	.	2302	Q86YZ3	HORN_HUMAN	H	2302	ENSP00000357791:R2302H	ENSP00000357791:R2302H	R	-	2	0	HRNR	150453824	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.060000	0.00155	-0.961000	0.03609	-2.109000	0.00356	CGC	HRNR	-	NULL	ENSG00000197915		0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	22	0	C	XM_373868		152187200	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.000	T	T	152187200	C	T	152187200	3	4	83	1	0	0	0	0	1	0	0	0	7386	768	27	1	1651	1	HRNR	1	152187200	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	33603803	152187200	97063421	16	21899											
HRNR	388697	genome.wustl.edu	37	chr1	152192643	152192643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtccgtggccggaggAgtgacctgagccagatccat	7	9	15	10	2	0	3	0	2	0	1	2	5	2	5	5	3	1	1	5	3	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:152192643A>C	ENST00000368801.2	-	3	1537	c.1462T>G	c.(1462-1464)Tcc>Gcc	p.S488A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	488					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCGGAGGAGTGACCTGAG	0.532																																																	0													298	279	285					1																	152192643		2203	4300	6503	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1462T>G	1.37:g.152192643A>C	ENSP00000357791:p.Ser488Ala		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S488A	ENST00000368801.2	37	c.1462	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	A	6.994	0.553624	0.13374	.	.	ENSG00000197915	ENST00000368801	T	0.01455	4.87	3.52	-0.534	0.11883	.	.	.	.	.	T	0.00356	0.0011	N	0.12182	0.205	0.09310	N	1	P	0.51057	0.941	B	0.42916	0.402	T	0.26608	-1.0098	9	0.13470	T	0.59	.	2.6512	0.05000	0.4647:0.0:0.1237:0.4116	.	488	Q86YZ3	HORN_HUMAN	A	488	ENSP00000357791:S488A	ENSP00000357791:S488A	S	-	1	0	HRNR	150459267	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.665000	0.25083	-0.325000	0.08577	0.409000	0.27619	TCC	HRNR	-	NULL	ENSG00000197915		0.532	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	132	0	A	XM_373868		152192643	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	25.26	71	24	SNP	0.000	C	C	152192643	A	C	152192643	3	2	83	1	0	0	0	0	1	0	0	0	7386	304	11	4	7094	4	HRNR	1	152192643	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	5443	152192643	97057978	17	21900											
ATP8B2	57198	genome.wustl.edu	37	chr1	154315284	154315284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcagaggcctgaacctGttgacttctccttcaatcct	7	15	7	12	0	3	3	2	2	1	1	5	3	4	3	4	1	1	2	4	1	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:154315284G>A	ENST00000368489.3	+	15	1399	c.1399G>A	c.(1399-1401)Gtt>Att	p.V467I		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	453					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCTGAACCTGTTGACTTCTC	0.547																																																	0													109	102	104					1																	154315284		2203	4300	6503	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1399G>A	1.37:g.154315284G>A	ENSP00000357475:p.Val467Ile		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V467I	ENST00000368489.3	37	c.1399	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824769	0.32237	.	.	ENSG00000143515	ENST00000368489	T	0.63096	-0.02	5.39	2.17	0.27698	.	0.497920	0.21337	N	0.076194	T	0.38957	0.1060	L	0.46157	1.445	0.80722	D	1	B	0.20052	0.041	B	0.29716	0.106	T	0.25082	-1.0142	10	0.34782	T	0.22	.	11.426	0.50012	0.2184:0.0:0.7816:0.0	.	467	P98198-3	.	I	467	ENSP00000357475:V467I	ENSP00000357475:V467I	V	+	1	0	ATP8B2	152581908	0.814000	0.29104	0.042000	0.18584	0.871000	0.50021	1.025000	0.30090	0.386000	0.24997	0.655000	0.94253	GTT	ATP8B2	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000143515		0.547	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	-	0	62	0	G	NM_020452		154315284	1	tier1	-	no_errors	ENST00000368489	ensembl	human	known	74_37	missense	7.27	50	4	SNP	0.503	A	A	154315284	G	A	154315284	3	1	83	1	0	0	0	0	1	0	0	0	1196	1377	48	3	1587	3	ATP8B2	1	154315284	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2122641	154315284	94935337	18	21901											
CASQ1	844	genome.wustl.edu	37	chr1	160165779	160165779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccagacaagcccaatagCgaagaggagattgtcaactt	15	7	9	10	1	1	3	1	0	0	3	2	5	2	3	2	1	3	0	2	1	5	3	rs371888819		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:160165779C>T	ENST00000368078.3	+	6	940	c.744C>T	c.(742-744)agC>agT	p.S248S	CASQ1_ENST00000467691.1_5'Flank|CASQ1_ENST00000368079.3_Silent_p.S242S			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	248					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCCCAATAGCGAAGAGGAGA	0.552													C|||	1	0.000199681	0	0.0014	5008	,	,		17964	0		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	86	87	87		744	-3.5	0.9	1		87	0,8600		0,0,4300	no	coding-synonymous	CASQ1	NM_001231.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		248/397	160165779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"Protein disulfide isomerases"	1512	protein-coding gene	gene with protein product	"calsequestrin 1, fast-twitch, skeletal muscle", "calmitine"	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.744C>T	1.37:g.160165779C>T			B1AKZ2|B2R863|Q8TBW7	Silent	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.S248	ENST00000368078.3	37	c.744	CCDS1198.2	1																																																																																			CASQ1	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000143318		0.552	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ1	HGNC	protein_coding	OTTHUMT00000077412.1	-	0	48	0	C	NM_001231		160165779	1	tier1	-	no_errors	ENST00000368078	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.758	T	T	160165779	C	T	160165779	2	4	83	1	0	0	0	0	0	0	0	1	2687	767	27	1		1	CASQ1	1	160165779	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	5850495	160165779	89084842	19	21902											
DNM3	26052	genome.wustl.edu	37	chr1	172357927	172357927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttccatctaggcctacgAgggccccgcccagtgtccca	8	7	10	16	2	1	0	0	0	1	0	3	1	3	0	6	2	1	1	6	2	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:172357927A>G	ENST00000355305.5	+	20	2675	c.2518A>G	c.(2518-2520)Agg>Ggg	p.R840G	DNM3_ENST00000358155.4_Missense_Mutation_p.R834G|DNM3_ENST00000367731.1_Missense_Mutation_p.R830G			Q9UQ16	DYN3_HUMAN	dynamin 3	840					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TAGGCCTACGAGGGCCCCGCC	0.557																																																	0													17	18	17					1																	172357927		1839	4087	5926	SO:0001583	missense	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2518A>G	1.37:g.172357927A>G	ENSP00000347457:p.Arg840Gly		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.R834G	ENST00000355305.5	37	c.2500		1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.313683	0.23908	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.52	-6.42	0.01932	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	L	0.33485	1.01	0.80722	D	1	D;D;D	0.71674	0.998;0.989;0.989	D;D;D	0.75020	0.981;0.985;0.985	T	0.44174	-0.9345	10	0.48119	T	0.1	.	21.57	0.99956	0.2425:0.7575:0.0:0.0	.	840;830;834	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	G	844;834;840;830;203	ENSP00000350876:R834G;ENSP00000347457:R840G;ENSP00000356705:R830G;ENSP00000429165:R203G	ENSP00000347457:R840G	R	+	1	2	DNM3	170624550	0.003000	0.15002	0.019000	0.16419	0.020000	0.10135	0.065000	0.14466	-0.531000	0.06340	-0.331000	0.08364	AGG	DNM3	-	NULL	ENSG00000197959		0.557	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	-	0	74	0	A	NM_015569		172357927	1	tier1	-	no_errors	ENST00000358155	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.004	G	G	172357927	A	G	172357927	3	3	83	1	0	0	0	0	1	0	0	0	4687	295	11	4	2578	4	DNM3	1	172357927	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	12192148	172357927	76892694	20	21903											
PRG4	10216	genome.wustl.edu	37	chr1	186277487	186277487	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatgaatcaactcctgAgctttctgcagaacccacac	11	9	6	15	0	2	4	1	3	1	1	3	4	3	4	3	0	4	2	3	0	3	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:186277487A>G	ENST00000445192.2	+	7	2681	c.2636A>G	c.(2635-2637)gAg>gGg	p.E879G	PRG4_ENST00000367483.4_Missense_Mutation_p.E838G|PRG4_ENST00000367485.4_Missense_Mutation_p.E786G|PRG4_ENST00000367484.3_Missense_Mutation_p.E408G|PRG4_ENST00000367486.3_Missense_Mutation_p.E836G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	879					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCAACTCCTGAGCTTTCTGCA	0.488																																																	0													148	152	150					1																	186277487		2203	4300	6503	SO:0001583	missense	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2636A>G	1.37:g.186277487A>G	ENSP00000399679:p.Glu879Gly		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.E879G	ENST00000445192.2	37	c.2636	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	A	9.068	0.996195	0.19043	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05717	3.41;3.47;3.51;3.4;3.53	2.76	1.4	0.22301	.	1.401760	0.05748	U	0.602533	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	P;P;B;P	0.36535	0.557;0.557;0.421;0.557	B;B;B;B	0.32864	0.154;0.154;0.055;0.154	T	0.40421	-0.9564	10	0.24483	T	0.36	-2.1005	7.2537	0.26164	0.7746:0.2254:0.0:0.0	.	745;786;879;838	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	836;408;745;838;786;879	ENSP00000356456:E836G;ENSP00000356454:E408G;ENSP00000356453:E838G;ENSP00000356455:E786G;ENSP00000399679:E879G	ENSP00000356452:E745G	E	+	2	0	PRG4	184544110	0.000000	0.05858	0.039000	0.18376	0.395000	0.30598	1.075000	0.30716	1.055000	0.40461	0.338000	0.21704	GAG	PRG4	-	NULL	ENSG00000116690		0.488	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	-	0	76	0	A	NM_005807		186277487	1	tier1	-	no_errors	ENST00000445192	ensembl	human	known	74_37	missense	37.33	47	28	SNP	0.003	G	G	186277487	A	G	186277487	3	3	83	1	0	0	0	0	1	0	0	0	12523	304	11	4	2658	4	PRG4	1	186277487	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	13919560	186277487	62973134	21	21904											
CFHR4	3080	genome.wustl.edu	37	chr1	196887491	196887491	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcagttctatcatttcaAgcagtgtgtagggaaggcat	12	12	10	7	0	4	0	3	0	1	0	4	1	4	1	0	2	1	4	0	2	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:196887491A>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.Q563H|CFHR4_ENST00000608469.1_Missense_Mutation_p.Q187H|CFHR4_ENST00000251424.4_Missense_Mutation_p.Q317H|CFHR4_ENST00000367418.2_Missense_Mutation_p.Q317H			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TATCATTTCAAGCAGTGTGTA	0.373																																																	0													187	192	190					1																	196887491		2202	4300	6502	SO:0001627	intron_variant	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-31094A>C	1.37:g.196887491A>C			Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q563H	ENST00000367421.3	37	c.1689		1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.006581	0.35415	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	D;D;D	0.83335	-1.71;-1.71;-1.71	3.02	-2.01	0.07410	Complement control module (1);	.	.	.	.	T	0.73505	0.3595	N	0.19112	0.55	0.09310	N	1	D;B;P	0.57899	0.981;0.018;0.872	P;B;B	0.54759	0.76;0.002;0.306	T	0.62286	-0.6886	9	0.42905	T	0.14	.	0.5212	0.00612	0.4413:0.2136:0.1367:0.2084	.	563;564;317	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	H	563;317;317;317	ENSP00000356386:Q563H;ENSP00000356388:Q317H;ENSP00000251424:Q317H	ENSP00000251424:Q317H	Q	+	3	2	CFHR4	195154114	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.146000	0.10250	-0.750000	0.04740	-0.782000	0.03352	CAA	CFHR4	-	superfamily_Sushi_SCR_CCP	ENSG00000134365		0.373	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	CFHR4	HGNC	protein_coding		-	0	55	0	A	NM_005666		196887491	1	tier1	-	no_errors	ENST00000367416	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.011	C	C	196887491	A	C	196887491	1	2	83	0	1	0	0	0	0	0	0	0	3294	69	3	4		4	CFHR4	1	196887491	Intron	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	10610004	196887491	52363130	22	21905											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202407189	202407190	+	Intron	INS	-	-	T																															atgggggaattccaaggcagINSttttttttttccatgaaaat																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:202407189_202407190insT	ENST00000608999.1	+	10	1611				RP11-175B9.2_ENST00000602961.1_RNA|PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000480184.1_Frame_Shift_Ins_p.V499fs|PPP1R12B_ENST00000356764.2_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCCAAGGCAGTTTTTTTTTTC	0.391																																																	0																																										SO:0001627	intron_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1458+37->T	1.37:g.202407199_202407199dupT			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F503fs	ENST00000608999.1	37	c.1495_1496	CCDS1426.1	1																																																																																			PPP1R12B	-	NULL	ENSG00000077157		0.391	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3		0	31	0	-	NM_032105		202407190	1	tier1		no_errors	ENST00000480184	ensembl	human	novel	74_37	frame_shift_ins	14.29	30	5	INS	0.085:0.041	T	T	202407190	-	T	202407189	6	5	83	0	1	1	1	0	0	0	0	0	12397	1029	36	0		0	PPP1R12B	1	202407189	Intron	INS	-	TCGA-L5-A8NI-01A-11D-A37C-09	5519698	202407189	46843432	23	21906											
SYT2	127833	genome.wustl.edu	37	chr1	202574728	202574728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagagacactcacagggaAtcttgtttatctcattgaat	13	12	7	9	0	3	2	2	1	2	1	4	4	3	3	1	1	0	1	1	1	3	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:202574728A>G	ENST00000367267.1	-	2	365	c.173T>C	c.(172-174)aTt>aCt	p.I58T	SYT2_ENST00000367268.4_Missense_Mutation_p.I58T|RP11-569A11.1_ENST00000428573.1_RNA	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	58					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	CTCACAGGGAATCTTGTTTAT	0.552																																																	0													69	62	65					1																	202574728		2203	4300	6503	SO:0001583	missense	0			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"Synaptotagmins"	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.173T>C	1.37:g.202574728A>G	ENSP00000356236:p.Ile58Thr		Q496K5|Q8NBE5	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.I58T	ENST00000367267.1	37	c.173	CCDS1427.1	1	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965835	0.53507	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.41065	1.01;1.01	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	M	0.77313	2.365	0.58432	D	0.999992	B	0.17667	0.023	B	0.17722	0.019	T	0.40813	-0.9543	10	0.27082	T	0.32	.	15.4591	0.75339	1.0:0.0:0.0:0.0	.	58	Q8N9I0	SYT2_HUMAN	T	58	ENSP00000356237:I58T;ENSP00000356236:I58T	ENSP00000356236:I58T	I	-	2	0	SYT2	200841351	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.594000	0.90836	2.072000	0.62099	0.386000	0.25728	ATT	SYT2	-	NULL	ENSG00000143858		0.552	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	HGNC	protein_coding	OTTHUMT00000099157.1	-	0	121	0	A	NM_177402		202574728	-1	tier1	-	no_errors	ENST00000367267	ensembl	human	known	74_37	missense	30.12	58	25	SNP	1.000	G	G	202574728	A	G	202574728	3	3	83	1	0	0	0	0	1	0	0	0	15521	101	4	4	1118	4	SYT2	1	202574728	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	167539	202574728	46675893	24	21907											
LAX1	54900	genome.wustl.edu	37	chr1	203740067	203740067	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaataaacggaagaagcgTgagtcccttgtttgtcctga	11	11	12	7	2	0	3	0	2	0	1	2	5	2	5	2	2	2	1	2	2	5	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:203740067T>C	ENST00000442561.2	+	2	589		c.e2+2		LAX1_ENST00000367217.5_Splice_Site|LAX1_ENST00000367215.1_Splice_Site	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1						antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGAAGAAGCGTGAGTCCCTTG	0.468																																																	0													111	104	106					1																	203740067		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.199+2T>C	1.37:g.203740067T>C			B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Splice_Site	SNP	-	e2+2	ENST00000442561.2	37	c.199+2	CCDS1441.2	1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597023	0.28445	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6043	0.51022	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LAX1	202006690	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	3.628000	0.54259	2.003000	0.58678	0.459000	0.35465	.	LAX1	-	-	ENSG00000122188		0.468	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAX1	HGNC	protein_coding	OTTHUMT00000087468.3	-	0	84	0	T	NM_017773	Intron	203740067	1	tier1	-	no_errors	ENST00000442561	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	1.000	C	C	203740067	T	C	203740067	5	2	83	1	0	0	0	0	0	0	1	0	8676	1710	59	4	252	4	LAX1	1	203740067	Splice_Site	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	1165339	203740067	45510554	25	21908											
CAMK1G	57172	genome.wustl.edu	37	chr1	209784837	209784837	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaacacagccctccaccgGgacatctacccatcagtcag	12	5	8	16	1	3	0	2	0	1	0	4	2	4	2	4	2	3	0	4	2	2	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:209784837G>T	ENST00000009105.1	+	10	1100	c.855G>T	c.(853-855)cgG>cgT	p.R285R	CAMK1G_ENST00000361322.2_Silent_p.R285R|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	285	Autoinhibitory domain. {ECO:0000250}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCTCCACCGGGACATCTACC	0.562																																					Ovarian(163;530 1939 9680 28669 48710)												0													102	86	91					1																	209784837		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.855G>T	1.37:g.209784837G>T			Q86UH5|Q9Y3J7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R285	ENST00000009105.1	37	c.855	CCDS1486.1	1																																																																																			CAMK1G	-	superfamily_Kinase-like_dom	ENSG00000008118		0.562	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	HGNC	protein_coding	OTTHUMT00000088526.1		0	86	0	G	NM_020439		209784837	1			no_errors	ENST00000009105	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	209784837	G	T	209784837	2	4	83	1	0	0	0	0	0	0	0	1	2605	1219	43	3		3	CAMK1G	1	209784837	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	6044770	209784837	39465784	26	21909											
SERTAD4	56256	genome.wustl.edu	37	chr1	210415432	210415432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactaatgtcagatcacttgGtgttcaggaaaaggccaaat	14	10	9	8	0	3	1	3	0	0	1	3	2	3	2	1	3	0	1	1	3	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:210415432G>A	ENST00000367012.3	+	4	1051	c.821G>A	c.(820-822)gGt>gAt	p.G274D	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	274						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		AGATCACTTGGTGTTCAGGAA	0.453																																																	0													69	63	65					1																	210415432		2203	4300	6503	SO:0001583	missense	0			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.821G>A	1.37:g.210415432G>A	ENSP00000355979:p.Gly274Asp		B2RD32	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.G274D	ENST00000367012.3	37	c.821	CCDS1494.1	1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638836	0.29157	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.24	3.27	0.37495	.	0.166850	0.40640	N	0.001059	T	0.34308	0.0893	L	0.29908	0.895	0.32122	N	0.587863	P	0.44627	0.839	B	0.43623	0.425	T	0.47761	-0.9092	9	0.87932	D	0	-15.5003	11.7415	0.51796	0.0:0.2491:0.6219:0.1291	.	274	Q9NUC0	SRTD4_HUMAN	D	274	.	ENSP00000355979:G274D	G	+	2	0	SERTAD4	208482055	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	2.135000	0.42112	0.630000	0.30394	0.655000	0.94253	GGT	SERTAD4	-	NULL	ENSG00000082497		0.453	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD4	HGNC	protein_coding	OTTHUMT00000088577.1	-	0	37	0	G	NM_019605		210415432	1	tier1	-	no_errors	ENST00000367012	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.853	A	A	210415432	G	A	210415432	3	1	83	1	0	0	0	0	1	0	0	0	14168	1261	44	3	831	3	SERTAD4	1	210415432	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	630595	210415432	38835189	27	21910											
KCNH1	3756	genome.wustl.edu	37	chr1	211093344	211093344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcaatgtagtggtccagcTtacgggccactcgcccaaga	10	9	10	12	2	1	1	1	0	0	1	3	1	2	1	3	2	2	2	3	2	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:211093344T>C	ENST00000271751.4	-	7	1127	c.1100A>G	c.(1099-1101)aAg>aGg	p.K367R	KCNH1_ENST00000367007.4_Missense_Mutation_p.K340R			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	367					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTGGTCCAGCTTACGGGCCAC	0.567																																																	0													98	100	100					1																	211093344		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1100A>G	1.37:g.211093344T>C	ENSP00000271751:p.Lys367Arg		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.K367R	ENST00000271751.4	37	c.1100	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.326544	0.81690	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98474	-4.95;-4.95	5.48	5.48	0.80851	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	L	0.45470	1.425	0.80722	D	1	B;B	0.33120	0.398;0.398	B;B	0.43867	0.434;0.434	D	0.97544	1.0088	10	0.56958	D	0.05	.	14.76	0.69600	0.0:0.0:0.0:1.0	.	340;367	Q14CL3;O95259	.;KCNH1_HUMAN	R	367;340	ENSP00000271751:K367R;ENSP00000355974:K340R	ENSP00000271751:K367R	K	-	2	0	KCNH1	209159967	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.751000	0.85126	2.087000	0.62958	0.533000	0.62120	AAG	KCNH1	-	pfam_Ion_trans_dom	ENSG00000143473		0.567	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0	40	0	T	NM_002238		211093344	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	52.94	16	18	SNP	1.000	C	C	211093344	T	C	211093344	3	2	83	1	0	0	0	0	1	0	0	0	8058	1609	56	4	1889	4	KCNH1	1	211093344	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	677912	211093344	38157277	28	21911											
KCNK2	3776	genome.wustl.edu	37	chr1	215259759	215259759	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgccgctcagaactccaAaccgaggctctcgttttcca	9	10	7	15	3	3	1	1	0	2	1	6	2	5	1	4	1	3	3	4	1	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:215259759A>C	ENST00000444842.2	+	2	245	c.95A>C	c.(94-96)aAa>aCa	p.K32T	KCNK2_ENST00000391895.2_Missense_Mutation_p.K28T|KCNK2_ENST00000391894.2_Missense_Mutation_p.K17T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	32					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CAGAACTCCAAACCGAGGCTC	0.507																																																	0													71	70	70					1																	215259759		2203	4300	6503	SO:0001583	missense	0			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.95A>C	1.37:g.215259759A>C	ENSP00000394033:p.Lys32Thr		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.K32T	ENST00000444842.2	37	c.95	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.158464	0.78114	.	.	ENSG00000082482	ENST00000366948;ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.22539	1.97;2.0;1.95	5.77	5.77	0.91146	.	0.642294	0.17154	N	0.184936	T	0.35451	0.0932	L	0.50919	1.6	0.52501	D	0.999952	P;P;B	0.46952	0.887;0.82;0.045	P;P;B	0.57009	0.811;0.652;0.09	T	0.02059	-1.1221	10	0.16896	T	0.51	.	16.0954	0.81117	1.0:0.0:0.0:0.0	.	17;32;28	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	28;28;17;32	ENSP00000375765:K28T;ENSP00000375764:K17T;ENSP00000394033:K32T	ENSP00000355915:K28T	K	+	2	0	KCNK2	213326382	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.088000	0.76901	2.203000	0.70933	0.455000	0.32223	AAA	KCNK2	-	NULL	ENSG00000082482		0.507	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	-	0	83	0	A	NM_014217		215259759	1	tier1	-	no_errors	ENST00000444842	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	C	C	215259759	A	C	215259759	3	2	83	1	0	0	0	0	1	0	0	0	8093	14	1	4	144	4	KCNK2	1	215259759	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	4166415	215259759	33990862	29	21912											
USH2A	7399	genome.wustl.edu	37	chr1	216462679	216462679	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcacagtcacagggtttGcaaacatctatggccgaagg	12	9	11	9	1	3	0	2	0	1	0	3	1	3	0	1	3	2	3	1	3	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:216462679G>T	ENST00000307340.3	-	11	2300	c.1914C>A	c.(1912-1914)tgC>tgA	p.C638*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.C638*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.C638*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	638	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACAGGGTTTGCAAACATCTA	0.423										HNSCC(13;0.011)																																							0													173	151	158					1																	216462679		2203	4300	6503	SO:0001587	stop_gained	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1914C>A	1.37:g.216462679G>T	ENSP00000305941:p.Cys638*		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.C638*	ENST00000307340.3	37	c.1914	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.698261	0.99241	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.43	4.52	0.55395	.	0.000000	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3494	0.66691	0.0714:0.0:0.9286:0.0	.	.	.	.	X	638	.	ENSP00000305941:C638X	C	-	3	2	USH2A	214529302	1.000000	0.71417	0.937000	0.37676	0.821000	0.46438	1.891000	0.39738	1.437000	0.47472	0.557000	0.71058	TGC	USH2A	-	smart_EGF_laminin	ENSG00000042781		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	65	0	G	NM_007123		216462679	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	1.000	T	T	216462679	G	T	216462679	4	4	83	1	0	0	0	0	0	1	0	0	17085	1311	46	3	13956	3	USH2A	1	216462679	Nonsense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1202920	216462679	32787942	30	21913											
SLC30A10	55532	genome.wustl.edu	37	chr1	220089150	220089150	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatggtggaagatttctcGaatttttgtgctggcatctt	7	16	11	7	2	2	1	0	0	2	1	3	3	2	2	0	3	1	3	0	3	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:220089150G>T	ENST00000366926.3	-	4	1260	c.1099C>A	c.(1099-1101)Cga>Aga	p.R367R	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.R122R	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	367					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AAGATTTCTCGAATTTTTGTG	0.458																																					Colon(76;360 1614 43677 51136)												0													120	116	118					1																	220089150		2203	4300	6503	SO:0001819	synonymous_variant	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1099C>A	1.37:g.220089150G>T			Q49AL9|Q9NPW0	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.R367	ENST00000366926.3	37	c.1099	CCDS31026.1	1																																																																																			SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000196660		0.458	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	-	0	76	0	G	NM_018713		220089150	-1	tier1	-	no_errors	ENST00000366926	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	220089150	G	T	220089150	2	4	83	1	0	0	0	0	0	0	0	1	14599	1066	37	2		2	SLC30A10	1	220089150	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3626471	220089150	29161471	31	21914											
SLC30A10	55532	genome.wustl.edu	37	chr1	220091715	220091715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaggacagtcaggctgggGtcaatgtaacactgccagtt	11	9	13	8	0	2	1	2	1	0	0	2	2	2	2	1	4	2	3	1	4	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:220091715G>T	ENST00000366926.3	-	3	1001	c.840C>A	c.(838-840)gaC>gaA	p.D280E	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.D35E	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	280					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TCAGGCTGGGGTCAATGTAAC	0.527																																					Colon(76;360 1614 43677 51136)												0													169	151	157					1																	220091715		2203	4300	6503	SO:0001583	missense	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.840C>A	1.37:g.220091715G>T	ENSP00000355893:p.Asp280Glu		Q49AL9|Q9NPW0	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.D280E	ENST00000366926.3	37	c.840	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100231	0.76983	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	D;D	0.85013	-1.93;-1.93	6.01	4.13	0.48395	.	0.107297	0.64402	D	0.000005	D	0.93684	0.7982	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93430	0.6784	9	.	.	.	-52.5717	9.3985	0.38417	0.2668:0.0:0.7332:0.0	.	280	Q6XR72	ZNT10_HUMAN	E	280;35	ENSP00000355893:D280E;ENSP00000439489:D35E	.	D	-	3	2	SLC30A10	218158338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.062000	0.41413	0.867000	0.35654	0.585000	0.79938	GAC	SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000196660		0.527	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	-	0	58	0	G	NM_018713		220091715	-1	tier1	-	no_errors	ENST00000366926	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	T	T	220091715	G	T	220091715	3	4	83	1	0	0	0	0	1	0	0	0	14599	1252	44	3	625	3	SLC30A10	1	220091715	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2565	220091715	29158906	32	21915											
MARK1	4139	genome.wustl.edu	37	chr1	220752752	220752752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcctaccaagtcgagtagCagacagaacatcccccggtg	12	5	10	14	2	0	2	0	0	0	2	2	3	1	2	4	1	4	2	4	1	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:220752752C>T	ENST00000366917.4	+	2	374	c.108C>T	c.(106-108)agC>agT	p.S36S	MARK1_ENST00000402574.1_5'UTR|MARK1_ENST00000485104.1_3'UTR|MARK1_ENST00000366918.4_Silent_p.S36S					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGTCGAGTAGCAGACAGAACA	0.383																																																	0													99	87	91					1																	220752752		2203	4300	6503	SO:0001819	synonymous_variant	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.108C>T	1.37:g.220752752C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.S36	ENST00000366917.4	37	c.108	CCDS31029.2	1																																																																																			MARK1	-	NULL	ENSG00000116141		0.383	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	74	0	C			220752752	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	T	T	220752752	C	T	220752752	2	4	83	1	0	0	0	0	0	0	0	1	9350	709	25	3		3	MARK1	1	220752752	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	661037	220752752	28497869	33	21916											
HLX	3142	genome.wustl.edu	37	chr1	221057991	221057991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctgcaacacagcccacagCcagcagcgctcccaaaagcc	12	2	7	20	1	0	0	0	0	0	0	1	0	1	0	5	0	7	3	5	0	3	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:221057991C>G	ENST00000366903.6	+	4	2913	c.1412C>G	c.(1411-1413)gCc>gGc	p.A471G	HLX_ENST00000549319.1_Missense_Mutation_p.A257G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	471					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAGCCCACAGCCAGCAGCGCT	0.677																																																	0													10	14	13					1																	221057991		2185	4279	6464	SO:0001583	missense	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"Homeoboxes / ANTP class : NKL subclass"	4978	protein-coding gene	gene with protein product		142995	"H2.0 (Drosophila)-like homeo box 1", "H2.0-like homeobox 1 (Drosophila)", "H2.0-like homeobox 1"	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1412C>G	1.37:g.221057991C>G	ENSP00000355870:p.Ala471Gly		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.A471G	ENST00000366903.6	37	c.1412	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710471	0.30322	.	.	ENSG00000136630	ENST00000366903;ENST00000549319	D;D	0.91740	-2.62;-2.9	4.78	-5.64	0.02466	.	1.509640	0.04402	N	0.364414	T	0.79690	0.4489	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66881	-0.5811	10	0.59425	D	0.04	-1.88	3.1778	0.06575	0.1375:0.4581:0.1401:0.2643	.	471	Q14774	HLX_HUMAN	G	471;257	ENSP00000355870:A471G;ENSP00000449882:A257G	ENSP00000355870:A471G	A	+	2	0	HLX	219124614	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.386000	0.07370	-0.630000	0.05567	-0.258000	0.10820	GCC	HLX	-	NULL	ENSG00000136630		0.677	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	-	0	47	0	C	NM_021958		221057991	1	tier1	-	no_errors	ENST00000366903	ensembl	human	known	74_37	missense	28.57	20	8	SNP	0.000	G	G	221057991	C	G	221057991	3	3	83	1	0	0	0	0	1	0	0	0	7243	739	26	5	1426	5	HLX	1	221057991	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	305239	221057991	28192630	34	21917											
CHRM3	1131	genome.wustl.edu	37	chr1	240070895	240070895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttctcgagcagctggcaaTttctcctctccagacggtac	7	12	9	13	2	3	1	0	0	3	1	6	2	3	1	2	2	3	5	2	2	2	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:240070895T>A	ENST00000255380.4	+	5	923	c.144T>A	c.(142-144)aaT>aaA	p.N48K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	48					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CAGCTGGCAATTTCTCCTCTC	0.572																																																	0													92	88	90					1																	240070895		2203	4300	6503	SO:0001583	missense	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.144T>A	1.37:g.240070895T>A	ENSP00000255380:p.Asn48Lys		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.N48K	ENST00000255380.4	37	c.144	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.077368	0.36662	.	.	ENSG00000133019	ENST00000255380;ENST00000448020	T;T	0.64085	-0.08;-0.08	5.6	0.64	0.17752	.	0.358182	0.23644	N	0.045992	T	0.45438	0.1342	L	0.29908	0.895	0.33882	D	0.63621	B	0.23937	0.094	B	0.16722	0.016	T	0.48854	-0.8998	10	0.49607	T	0.09	-14.3195	9.6828	0.40080	0.0:0.4468:0.0:0.5532	.	48	P20309	ACM3_HUMAN	K	48	ENSP00000255380:N48K;ENSP00000404764:N48K	ENSP00000255380:N48K	N	+	3	2	CHRM3	238137518	0.176000	0.23096	0.947000	0.38551	0.853000	0.48598	0.355000	0.20163	0.133000	0.18654	0.528000	0.53228	AAT	CHRM3	-	NULL	ENSG00000133019		0.572	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0	81	0	T	NM_000740		240070895	1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.981	A	A	240070895	T	A	240070895	3	1	83	1	0	0	0	0	1	0	0	0	3385	1490	52	5	146	5	CHRM3	1	240070895	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	19012904	240070895	9179726	35	21918											
SCCPDH	51097	genome.wustl.edu	37	chr1	246921571	246921571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggaagtcagcaatttatgGttttggagatcagagtaatt	12	14	11	4	0	2	2	2	0	0	2	2	4	2	3	0	3	1	3	0	3	4	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:246921571G>T	ENST00000366510.3	+	6	984	c.608G>T	c.(607-609)gGt>gTt	p.G203V		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	203						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GCAATTTATGGTTTTGGAGAT	0.328																																																	0													89	95	93					1																	246921571		2203	4299	6502	SO:0001583	missense	0				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.608G>T	1.37:g.246921571G>T	ENSP00000355467:p.Gly203Val		Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.G203V	ENST00000366510.3	37	c.608	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767460	0.90020	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.39787	1.06	6.06	6.06	0.98353	.	0.043787	0.85682	D	0.000000	T	0.72614	0.3482	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70622	-0.4821	10	0.24483	T	0.36	.	20.2501	0.98402	0.0:0.0:1.0:0.0	.	203	Q8NBX0	SCPDL_HUMAN	V	203;34	ENSP00000355467:G203V	ENSP00000355466:G34V	G	+	2	0	SCCPDH	244988194	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.770000	0.91746	2.880000	0.98712	0.650000	0.86243	GGT	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn	ENSG00000143653		0.328	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	-	0	72	0	G	NM_016002		246921571	1	tier1	-	no_errors	ENST00000366510	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	246921571	G	T	246921571	3	4	83	1	0	0	0	0	1	0	0	0	13930	1261	44	3	630	3	SCCPDH	1	246921571	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	6850676	246921571	2329050	36	21919											
ZNF670	93474	genome.wustl.edu	37	chr1	247200821	247200821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctttaccacatttcttaCattcatagggtttttctcca	9	17	5	10	0	3	0	1	0	2	0	4	0	3	0	2	2	2	2	2	2	3	8			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:247200821C>G	ENST00000366503.2	-	4	1258	c.1100G>C	c.(1099-1101)tGt>tCt	p.C367S		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ACATTTCTTACATTCATAGGG	0.398																																																	0													89	86	87					1																	247200821		2203	4300	6503	SO:0001583	missense	0				CCDS31087.1	1q44	2013-01-08			ENSG00000135747	ENSG00000135747		"Zinc fingers, C2H2-type", "-"	28167	protein-coding gene	gene with protein product						12477932	Standard	NM_033213		Approved	MGC12466	uc001icd.2	Q9BS34	OTTHUMG00000040868	ENST00000366503.2:c.1100G>C	1.37:g.247200821C>G	ENSP00000355459:p.Cys367Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C367S	ENST00000366503.2	37	c.1100	CCDS31087.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512134	0.64522	.	.	ENSG00000135747	ENST00000366503	D	0.85171	-1.95	0.641	0.641	0.17759	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93864	0.8037	H	0.97659	4.05	0.25359	N	0.988797	D	0.89917	1.0	D	0.85130	0.997	D	0.83753	0.0210	9	0.72032	D	0.01	.	7.0739	0.25193	0.0:0.9999:0.0:1.0E-4	.	367	Q9BS34	ZN670_HUMAN	S	367	ENSP00000355459:C367S	ENSP00000355459:C367S	C	-	2	0	ZNF670	245267444	0.995000	0.38212	0.776000	0.31678	0.723000	0.41478	5.211000	0.65219	0.604000	0.29930	0.467000	0.42956	TGT	ZNF670	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000135747		0.398	ZNF670-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF670	HGNC	protein_coding	OTTHUMT00000098183.3	-	0	100	0	C	NM_033213		247200821	-1	tier1	-	no_errors	ENST00000366503	ensembl	human	known	74_37	missense	28.95	54	22	SNP	0.696	G	G	247200821	C	G	247200821	3	3	83	1	0	0	0	0	1	0	0	0	18125	478	17	5	73	5	ZNF670	1	247200821	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	279250	247200821	2049800	37	21920											
OR11L1	391189	genome.wustl.edu	37	chr1	248004771	248004771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggagaccaccaccaacCtggcacagagcccacgatgc	13	2	9	17	1	0	2	0	0	0	2	0	4	0	2	6	2	3	1	6	2	1	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr1:248004771C>A	ENST00000355784.2	-	1	483	c.428G>T	c.(427-429)aGg>aTg	p.R143M		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	143						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACCACCAACCTGGCACAGAG	0.572																																																	0													59	57	58					1																	248004771		2203	4300	6503	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.428G>T	1.37:g.248004771C>A	ENSP00000348033:p.Arg143Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R143M	ENST00000355784.2	37	c.428	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	C	1.245	-0.620196	0.03636	.	.	ENSG00000197591	ENST00000355784	T	0.00039	8.85	4.42	-3.2	0.05156	GPCR, rhodopsin-like superfamily (1);	0.789981	0.10293	N	0.692129	T	0.00109	0.0003	L	0.35854	1.095	0.09310	N	1	B	0.23249	0.082	B	0.33121	0.158	T	0.12426	-1.0548	10	0.34782	T	0.22	.	1.0176	0.01511	0.2056:0.1582:0.3454:0.2908	.	143	Q8NGX0	O11L1_HUMAN	M	143	ENSP00000348033:R143M	ENSP00000348033:R143M	R	-	2	0	OR11L1	246071394	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.769000	0.04710	-0.684000	0.05183	-1.279000	0.01387	AGG	OR11L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197591		0.572	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1	-	0	33	0	C	NM_001001959		248004771	-1	tier1	-	no_errors	ENST00000355784	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.000	A	A	248004771	C	A	248004771	3	1	83	1	0	0	0	0	1	0	0	0	10969	681	24	3	544	3	OR11L1	1	248004771	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	803950	248004771	1245850	38	21921											
ASAP2	8853	genome.wustl.edu	37	chr2	9515045	9515045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgatggtgtggatcttaCggaaaaaatcccactggcca	11	10	11	9	1	1	1	0	1	1	0	2	3	2	3	2	4	2	1	2	4	4	1	rs553146291		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:9515045C>T	ENST00000281419.3	+	17	2058	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	ASAP2_ENST00000315273.4_Missense_Mutation_p.T573M	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	573					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTGGATCTTACGGAAAAAATC	0.488													C|||	1	0.000199681	0	0	5008	,	,		14891	0		0	False		,,,				2504	0.001																0													87	88	88					2																	9515045		2203	4300	6503	SO:0001583	missense	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1718C>T	2.37:g.9515045C>T	ENSP00000281419:p.Thr573Met		D6W4Y8	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.T573M	ENST00000281419.3	37	c.1718	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258908	0.23051	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	T;T	0.58060	0.42;0.36	5.27	4.39	0.52855	Ankyrin repeat-containing domain (1);	0.089287	0.85682	N	0.000000	T	0.21145	0.0509	N	0.02697	-0.525	0.47547	D	0.999455	P;P	0.41673	0.744;0.759	B;B	0.24541	0.054;0.024	T	0.09975	-1.0650	10	0.17832	T	0.49	.	13.8751	0.63648	0.0:0.9263:0.0:0.0736	.	573;573	O43150-2;O43150	.;ASAP2_HUMAN	M	573	ENSP00000281419:T573M;ENSP00000316404:T573M	ENSP00000281419:T573M	T	+	2	0	ASAP2	9432496	1.000000	0.71417	0.182000	0.23118	0.759000	0.43091	3.961000	0.56759	1.215000	0.43411	-0.140000	0.14226	ACG	ASAP2	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000151693		0.488	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1		0	59	0	C	NM_003887		9515045	1			no_errors	ENST00000281419	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.993	T	T	9515045	C	T	9515045	3	4	83	1	0	0	0	0	1	0	0	0	1012	536	19	1	1784	1	ASAP2	2	9515045	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09		9515045	233684328	39	21922											
APOB	338	genome.wustl.edu	37	chr2	21229517	21229517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacagtactgttatgactaCcctccacaaatttgttgctc	10	14	5	12	0	1	1	1	1	0	0	3	1	2	1	2	0	3	4	2	0	4	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:21229517C>A	ENST00000233242.1	-	26	10350	c.10223G>T	c.(10222-10224)gGt>gTt	p.G3408V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3408	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTATGACTACCCTCCACAAA	0.413																																																	0													166	165	165					2																	21229517		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10223G>T	2.37:g.21229517C>A	ENSP00000233242:p.Gly3408Val		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.G3408V	ENST00000233242.1	37	c.10223	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249334	0.39797	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.39056	1.1	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000012	T	0.74450	0.3718	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.80195	-0.1483	10	0.72032	D	0.01	.	19.9351	0.97137	0.0:1.0:0.0:0.0	.	3408	P04114	APOB_HUMAN	V	3408	ENSP00000233242:G3408V	ENSP00000233242:G3408V	G	-	2	0	APOB	21083022	0.997000	0.39634	0.995000	0.50966	0.136000	0.21042	1.908000	0.39907	2.703000	0.92315	0.655000	0.94253	GGT	APOB	-	NULL	ENSG00000084674		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	61	0	C			21229517	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	A	A	21229517	C	A	21229517	3	1	83	1	0	0	0	0	1	0	0	0	785	507	18	3	3484	3	APOB	2	21229517	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	11714472	21229517	221969856	40	21923											
FAM82A1	151393	genome.wustl.edu	37	chr2	38201326	38201326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtctggcaagtcggagaGttttgaactacttcgtgacc	9	12	12	8	2	1	4	0	3	1	1	3	5	1	4	1	2	2	2	1	2	3	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:38201326G>T	ENST00000406384.1	+	3	790	c.596G>T	c.(595-597)aGt>aTt	p.S199I	RMDN2_ENST00000417700.2_Missense_Mutation_p.S54I|RMDN2_ENST00000354545.2_Missense_Mutation_p.S199I|RMDN2_ENST00000407257.1_Missense_Mutation_p.S377I|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.S377I	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	199						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAGTCGGAGAGTTTTGAACTA	0.368																																																	0													108	107	108					2																	38201326		2203	4299	6502	SO:0001583	missense	0			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"family with sequence similarity 82, member A1"	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.596G>T	2.37:g.38201326G>T	ENSP00000386004:p.Ser199Ile		A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	NULL	p.S377I	ENST00000406384.1	37	c.1130	CCDS54351.1	2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491760	0.44249	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.44482	0.93;0.93;0.92;0.92;0.92;0.92	5.44	4.57	0.56435	.	0.227283	0.43747	D	0.000536	T	0.26195	0.0639	L	0.28344	0.845	0.42862	D	0.99411	B;B;P;B	0.43287	0.335;0.433;0.802;0.158	B;B;B;B	0.36719	0.135;0.104;0.231;0.139	T	0.04693	-1.0933	9	.	.	.	.	9.7605	0.40530	0.092:0.0:0.908:0.0	.	377;54;199;54	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	I	199;199;377;54;377;54	ENSP00000346549:S199I;ENSP00000386004:S199I;ENSP00000385049:S377I;ENSP00000392977:S54I;ENSP00000234195:S377I;ENSP00000416367:S54I	.	S	+	2	0	FAM82A1	38054830	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.360000	0.52299	1.537000	0.49254	0.650000	0.86243	AGT	RMDN2	-	NULL	ENSG00000115841		0.368	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMDN2	HGNC	protein_coding	OTTHUMT00000325577.1	-	0	45	0	G	NM_144713		38201326	1	tier1	-	no_errors	ENST00000234195	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	38201326	G	T	38201326	3	4	83	1	0	0	0	0	1	0	0	0	5652	1029	36	3	1596	3	FAM82A1	2	38201326	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	16971809	38201326	204998047	41	21924											
DCTN1	1639	genome.wustl.edu	37	chr2	74598729	74598729	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccggcgtggggatgatggGtgctgccagcggagtctgag	6	7	20	8	3	1	2	0	2	1	0	1	5	1	4	2	5	3	1	2	5	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:74598729G>C	ENST00000361874.3	-	8	897	c.580C>G	c.(580-582)Ccc>Gcc	p.P194A	DCTN1_ENST00000409868.1_Missense_Mutation_p.P177A|DCTN1_ENST00000409567.3_Missense_Mutation_p.P174A|DCTN1_ENST00000394003.3_Missense_Mutation_p.P187A|DCTN1_ENST00000409240.1_Missense_Mutation_p.P157A|DCTN1_ENST00000409438.1_Missense_Mutation_p.P60A|DCTN1_ENST00000407639.2_Missense_Mutation_p.P60A	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	194					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGGATGATGGGTGCTGCCAGC	0.657																																																	0													22	24	24					2																	74598729		2199	4295	6494	SO:0001583	missense	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.580C>G	2.37:g.74598729G>C	ENSP00000354791:p.Pro194Ala		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain	p.P194A	ENST00000361874.3	37	c.580	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.156652	0.94686	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78816	-0.86;-0.98;-0.81;-0.81;-1.21;-1.06;-0.99	5.39	5.39	0.77823	.	0.000000	0.42964	D	0.000626	D	0.82291	0.5005	L	0.27053	0.805	0.80722	D	1	D;P;D;P;D;D	0.89917	0.999;0.584;0.999;0.92;1.0;0.999	D;B;D;P;D;D	0.87578	0.967;0.404;0.986;0.644;0.998;0.994	D	0.83910	0.0295	10	0.66056	D	0.02	-7.6315	18.0832	0.89449	0.0:0.0:1.0:0.0	.	174;157;194;187;60;60	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	A	194;187;177;60;60;157;177;174	ENSP00000354791:P194A;ENSP00000377571:P187A;ENSP00000384844:P60A;ENSP00000387270:P60A;ENSP00000386406:P157A;ENSP00000387327:P177A;ENSP00000386843:P174A	ENSP00000354791:P194A	P	-	1	0	DCTN1	74452237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.928000	0.92853	2.795000	0.96236	0.655000	0.94253	CCC	DCTN1	-	NULL	ENSG00000204843		0.657	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	-	0	96	0	G	NM_004082		74598729	-1	tier1	-	no_errors	ENST00000361874	ensembl	human	known	74_37	missense	23.81	64	20	SNP	1.000	C	C	74598729	G	C	74598729	3	2	83	1	0	0	0	0	1	0	0	0	4315	1261	44	5	3356	5	DCTN1	2	74598729	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	36397403	74598729	168600644	42	21925											
WDR54	84058	genome.wustl.edu	37	chr2	74649396	74649396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtattttggcgtggttcatgGaccaagcgcccagcttctca	7	12	11	11	2	2	0	2	0	1	0	3	1	2	1	2	3	2	3	2	3	2	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:74649396G>A	ENST00000348227.4	+	2	204	c.116G>A	c.(115-117)gGa>gAa	p.G39E	WDR54_ENST00000409791.1_Intron|WDR54_ENST00000461531.1_Intron	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	39										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GTGGTTCATGGACCAAGCGCC	0.647																																																	0													58	53	55					2																	74649396		2203	4300	6503	SO:0001583	missense	0			AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"WD repeat domain containing"	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951	ENST00000348227.4:c.116G>A	2.37:g.74649396G>A	ENSP00000006526:p.Gly39Glu		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G39E	ENST00000348227.4	37	c.116	CCDS1940.1	2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907744	0.72868	.	.	ENSG00000005448	ENST00000426787;ENST00000348227	.	.	.	5.47	5.47	0.80525	.	0.061006	0.64402	D	0.000003	T	0.40815	0.1132	L	0.36672	1.1	0.42605	D	0.993292	P	0.48764	0.915	B	0.40165	0.321	T	0.31081	-0.9956	9	0.08837	T	0.75	-12.4029	16.2503	0.82481	0.0:0.0:1.0:0.0	.	39	Q9H977	WDR54_HUMAN	E	39	.	ENSP00000006526:G39E	G	+	2	0	WDR54	74502904	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.377000	0.66184	2.576000	0.86940	0.511000	0.50034	GGA	WDR54	-	NULL	ENSG00000005448		0.647	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR54	HGNC	protein_coding	OTTHUMT00000252213.1	-	0	31	0	G	NM_032118		74649396	1	tier1	-	no_errors	ENST00000348227	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	A	A	74649396	G	A	74649396	3	1	83	1	0	0	0	0	1	0	0	0	17355	1174	41	3	118	3	WDR54	2	74649396	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	50667	74649396	168549977	43	21926											
SEMA4C	54910	genome.wustl.edu	37	chr2	97531628	97531628	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttcttccctttctggatAcactcagtcttcttctccac	5	18	4	14	0	6	0	1	0	5	0	8	1	7	1	2	1	1	1	2	1	1	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:97531628A>G	ENST00000305476.5	-	4	429	c.297T>C	c.(295-297)tgT>tgC	p.C99C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	99	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTTTCTGGATACACTCAGTCT	0.597																																																	0													120	129	126					2																	97531628		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.297T>C	2.37:g.97531628A>G			Q32MJ3|Q7Z5X0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.C99	ENST00000305476.5	37	c.297	CCDS2029.1	2																																																																																			SEMA4C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000168758		0.597	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4C	HGNC	protein_coding	OTTHUMT00000252957.1	-	0	25	0	A	NM_017789		97531628	-1	tier1	-	no_errors	ENST00000305476	ensembl	human	known	74_37	silent	34.88	28	15	SNP	0.292	G	G	97531628	A	G	97531628	2	3	83	1	0	0	0	0	0	0	0	1	14078	389	14	4		4	SEMA4C	2	97531628	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	22882232	97531628	145667745	44	21927											
TMEM37	6344	genome.wustl.edu	37	chr2	120194856	120194856	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggtgtctttcgtcctctCctccggcgggctcctgggtt	0	14	12	15	3	2	0	0	0	2	0	7	0	5	0	5	4	0	2	5	4	0	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:120194856C>A	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Missense_Mutation_p.S150Y|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.S138Y	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.S138F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TTCGTCCTCTCCTCCGGCGGG	0.557																																																	1	Substitution - Missense(1)	breast(1)											177	178	178					2																	120194856		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194856C>A			Q12961|Q13213|Q53T00	Missense_Mutation	SNP	NULL	p.S138Y	ENST00000019103.5	37	c.413	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.994098	0.35226	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.97	4.09	0.47781	.	0.153934	0.44688	D	0.000430	T	0.58878	0.2153	M	0.72118	2.19	0.30332	N	0.786587	P	0.52842	0.956	P	0.54100	0.742	T	0.64478	-0.6398	9	0.72032	D	0.01	-26.6068	12.285	0.54788	0.0:0.9187:0.0:0.0813	.	138	Q8WXS4	CCGL_HUMAN	Y	150;138	.	ENSP00000303148:S138Y	S	+	2	0	TMEM37	119911326	1.000000	0.71417	0.177000	0.23020	0.008000	0.06430	5.970000	0.70431	1.323000	0.45263	0.655000	0.94253	TCC	TMEM37	-	NULL	ENSG00000171227		0.557	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM37	HGNC	protein_coding	OTTHUMT00000254198.2		0	95	0	C			120194856	1			no_errors	ENST00000306406	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.664	A	A	120194856	C	A	120194856	1	1	83	0	1	0	0	0	0	0	0	0	16205	855	30	3		3	TMEM37	2	120194856	IGR	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	22663228	120194856	123004517	45	21928											
THSD7B	80731	genome.wustl.edu	37	chr2	137872721	137872721	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagaacttctgaatggaaAgaatgccaagtctctctcct	12	11	9	9	0	3	3	0	1	3	2	5	5	3	4	2	2	2	0	2	2	5	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:137872721A>G	ENST00000409968.1	+	5	1405	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K	THSD7B_ENST00000543459.1_Silent_p.K268K|THSD7B_ENST00000272643.3_Silent_p.K409K|THSD7B_ENST00000413152.2_Silent_p.K378K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	409	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGAATGGAAAGAATGCCAAG	0.473																																																	0													65	66	66					2																	137872721		1906	4132	6038	SO:0001819	synonymous_variant	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1227A>G	2.37:g.137872721A>G				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.K409	ENST00000409968.1	37	c.1227		2																																																																																			THSD7B	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	82	0	A	XM_046570.9		137872721	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	silent	59.09	18	26	SNP	1.000	G	G	137872721	A	G	137872721	2	3	83	1	0	0	0	0	0	0	0	1	15927	69	3	4		4	THSD7B	2	137872721	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	17677865	137872721	105326652	46	21929											
NEB	4703	genome.wustl.edu	37	chr2	152471079	152471079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggtggccaagctgtttgCggtagccttccttgtacttg	5	15	12	9	1	0	0	0	0	0	0	1	0	1	0	3	3	4	4	3	3	4	7	rs374486286		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:152471079C>T	ENST00000172853.10	-	73	10730	c.10583G>A	c.(10582-10584)cGc>cAc	p.R3528H	NEB_ENST00000603639.1_Missense_Mutation_p.R3771H|NEB_ENST00000397345.3_Missense_Mutation_p.R3771H|NEB_ENST00000604864.1_Missense_Mutation_p.R3771H|NEB_ENST00000427231.2_Missense_Mutation_p.R3771H|NEB_ENST00000409198.1_Missense_Mutation_p.R3528H			P20929	NEBU_HUMAN	nebulin	3528					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGCTGTTTGCGGTAGCCTTC	0.418																																																	0													105	99	101					2																	152471079		1884	4118	6002	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10583G>A	2.37:g.152471079C>T	ENSP00000172853:p.Arg3528His		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R3771H	ENST00000172853.10	37	c.11312		2	.	.	.	.	.	.	.	.	.	.	C	35	5.541940	0.96474	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.77	5.77	0.91146	.	0.118820	0.64402	D	0.000019	T	0.73674	0.3617	M	0.87097	2.86	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.74771	-0.3552	10	0.49607	T	0.09	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	3528	P20929	NEBU_HUMAN	H	3528;3771;3771;3528	ENSP00000386259:R3528H;ENSP00000380505:R3771H;ENSP00000416578:R3771H;ENSP00000172853:R3528H	ENSP00000172853:R3528H	R	-	2	0	NEB	152179325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.005000	0.70716	2.890000	0.99128	0.650000	0.86243	CGC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	79	0	C	NM_004543		152471079	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	152471079	C	T	152471079	3	4	83	1	0	0	0	0	1	0	0	0	10341	768	27	1	14798	1	NEB	2	152471079	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	14598358	152471079	90728294	47	21930											
FIGN	55137	genome.wustl.edu	37	chr2	164467428	164467428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgtttgtcagagccgacGgtgcaataggtgtcaaacca	12	9	11	9	2	2	1	2	0	0	1	2	2	2	1	2	2	4	2	2	2	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:164467428G>T	ENST00000333129.3	-	3	1228	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	305					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAGAGCCGACGGTGCAATAGG	0.517																																																	0													65	67	66					2																	164467428		1985	4158	6143	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.914C>A	2.37:g.164467428G>T	ENSP00000333836:p.Pro305Gln		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P305Q	ENST00000333129.3	37	c.914	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778093	0.49786	.	.	ENSG00000182263	ENST00000333129	D	0.92545	-3.06	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.94748	0.8305	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90751	0.4657	10	0.08599	T	0.76	-8.0222	20.3666	0.98879	0.0:0.0:1.0:0.0	.	305	Q5HY92	FIGN_HUMAN	Q	305	ENSP00000333836:P305Q	ENSP00000333836:P305Q	P	-	2	0	FIGN	164175674	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.824000	0.99380	2.814000	0.96858	0.563000	0.77884	CCG	FIGN	-	NULL	ENSG00000182263		0.517	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2		0	39	0	G	NM_018086		164467428	-1			no_errors	ENST00000333129	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	T	T	164467428	G	T	164467428	3	4	83	1	0	0	0	0	1	0	0	0	5913	1116	39	2	1369	2	FIGN	2	164467428	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	11996349	164467428	78731945	48	21931											
AGPS	8540	genome.wustl.edu	37	chr2	178326678	178326678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccctggagttcagtactGtaggaggatgggtatctact	9	13	12	7	0	2	0	1	0	1	0	3	3	3	3	1	4	2	4	1	4	4	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:178326678G>T	ENST00000264167.4	+	9	1074	c.928G>T	c.(928-930)Gta>Tta	p.V310L	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	310	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTTCAGTACTGTAGGAGGATG	0.358																																																	0													96	93	94					2																	178326678		2203	4300	6503	SO:0001583	missense	0			Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.928G>T	2.37:g.178326678G>T	ENSP00000264167:p.Val310Leu		A5D8U9|Q2TU35	Missense_Mutation	SNP	pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C	p.V310L	ENST00000264167.4	37	c.928	CCDS2275.1	2	.	.	.	.	.	.	.	.	.	.	G	5.784	0.328956	0.10956	.	.	ENSG00000018510	ENST00000264167;ENST00000536686	D	0.97041	-4.22	5.76	1.52	0.23074	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.301196	0.31601	N	0.007371	T	0.82167	0.4978	N	0.00605	-1.335	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.75391	-0.3334	10	0.02654	T	1	.	3.45	0.07494	0.0769:0.3026:0.2891:0.3315	.	310	O00116	ADAS_HUMAN	L	310;180	ENSP00000264167:V310L	ENSP00000264167:V310L	V	+	1	0	AGPS	178034924	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	1.841000	0.39240	0.294000	0.22547	0.655000	0.94253	GTA	AGPS	-	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	ENSG00000018510		0.358	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPS	HGNC	protein_coding	OTTHUMT00000255730.2	-	0	84	0	G			178326678	1	tier1	-	no_errors	ENST00000264167	ensembl	human	known	74_37	missense	6.49	72	5	SNP	0.993	T	T	178326678	G	T	178326678	3	4	83	1	0	0	0	0	1	0	0	0	394	1377	48	3	962	3	AGPS	2	178326678	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	13859250	178326678	64872695	49	21932											
TTN	7273	genome.wustl.edu	37	chr2	179458716	179458716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaacttgacagaaacctttCctagagcctgtactgttctc	10	14	6	11	0	1	3	0	1	1	2	3	3	2	3	3	0	4	2	3	0	4	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:179458716C>T	ENST00000591111.1	-	247	53705	c.53481G>A	c.(53479-53481)agG>agA	p.R17827R	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.R19468R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.R10528R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.R10403R|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.R10595R|TTN_ENST00000342992.6_Silent_p.R16900R			Q8WZ42	TITIN_HUMAN	titin	17827	Ig-like 104.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACCTTTCCTAGAGCCTG	0.388																																																	0													176	172	173					2																	179458716		1963	4150	6113	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.53481G>A	2.37:g.179458716C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R16900	ENST00000591111.1	37	c.50700		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	53	0	C	NM_133378		179458716	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	36.84	36	21	SNP	1.000	T	T	179458716	C	T	179458716	2	4	83	1	0	0	0	0	0	0	0	1	16784	854	30	3		3	TTN	2	179458716	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	1132038	179458716	63740657	50	21933											
TTN	7273	genome.wustl.edu	37	chr2	179545834	179545834	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgggttcagtcacctgctcTttttcacgtttggtaattga	6	16	10	9	2	4	1	3	1	1	0	4	1	4	1	1	2	1	4	1	2	1	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:179545834T>G	ENST00000591111.1	-	136	32585	c.32361A>C	c.(32359-32361)aaA>aaC	p.K10787N	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K11104N|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K9860N			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCTGCTCTTTTTCACGTT	0.323																																																	0													90	88	89					2																	179545834		1811	4072	5883	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32361A>C	2.37:g.179545834T>G	ENSP00000465570:p.Lys10787Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K9860N	ENST00000591111.1	37	c.29580		2	.	.	.	.	.	.	.	.	.	.	T	14.32	2.499658	0.44455	.	.	ENSG00000155657	ENST00000342992	T	0.75050	-0.9	5.92	4.78	0.61160	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.73976	0.3656	L	0.29908	0.895	0.80722	D	1	D	0.58268	0.982	P	0.59825	0.864	T	0.75328	-0.3356	9	0.87932	D	0	.	8.5154	0.33242	0.0:0.149:0.0:0.851	.	10787	Q8WZ42	TITIN_HUMAN	N	9860	ENSP00000343764:K9860N	ENSP00000343764:K9860N	K	-	3	2	TTN	179254079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.896000	0.28377	1.091000	0.41335	0.528000	0.53228	AAA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.323	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	73	0	T	NM_133378		179545834	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	G	G	179545834	T	G	179545834	3	3	83	1	0	0	0	0	1	0	0	0	16784	1606	56	4	71117	4	TTN	2	179545834	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	87118	179545834	63653539	51	21934											
ITGA4	3676	genome.wustl.edu	37	chr2	182350629	182350629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcagtaatgaatgcaatgGaaacaaacctcgttggaagt	16	8	11	6	1	0	1	0	1	0	0	1	4	0	3	1	2	4	4	1	2	6	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:182350629G>A	ENST00000397033.2	+	10	1493	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	355					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAATGCAATGGAAACAAACCT	0.368																																																	0													147	139	142					2																	182350629		1862	4110	5972	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1063G>A	2.37:g.182350629G>A	ENSP00000380227:p.Glu355Lys		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E355K	ENST00000397033.2	37	c.1063	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241405	0.39598	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.11063	2.81;2.81	5.87	5.87	0.94306	.	0.201419	0.51477	D	0.000096	T	0.07052	0.0179	L	0.34521	1.04	0.40975	D	0.984732	B;P	0.35328	0.099;0.495	B;B	0.25291	0.058;0.059	T	0.37686	-0.9695	10	0.14656	T	0.56	.	10.808	0.46529	0.0699:0.131:0.7991:0.0	.	355;355	E7EP60;P13612	.;ITA4_HUMAN	K	355	ENSP00000380227:E355K;ENSP00000233573:E355K	ENSP00000233573:E355K	E	+	1	0	ITGA4	182058874	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.135000	0.50546	2.768000	0.95171	0.585000	0.79938	GAA	ITGA4	-	smart_Int_alpha_beta-p	ENSG00000115232		0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	-	0	74	0	G			182350629	1	tier1	-	no_errors	ENST00000397033	ensembl	human	known	74_37	missense	24.66	55	18	SNP	1.000	A	A	182350629	G	A	182350629	3	1	83	1	0	0	0	0	1	0	0	0	7905	1175	41	3	1101	3	ITGA4	2	182350629	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2804795	182350629	60848744	52	21935											
PDE1A	5136	genome.wustl.edu	37	chr2	183051250	183051250	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttcctctataagaggaaTaacaattttctctgttgagt	11	15	8	7	0	2	2	0	1	2	1	4	3	3	3	1	2	1	2	1	2	5	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:183051250T>C	ENST00000410103.1	-	13	1404	c.1321A>G	c.(1321-1323)Att>Gtt	p.I441V	PDE1A_ENST00000331935.6_Missense_Mutation_p.I441V|PDE1A_ENST00000536095.1_Missense_Mutation_p.I337V|PDE1A_ENST00000409365.1_Missense_Mutation_p.I425V|PDE1A_ENST00000351439.5_Missense_Mutation_p.I425V|PDE1A_ENST00000435564.1_Missense_Mutation_p.I441V|PDE1A_ENST00000346717.4_Missense_Mutation_p.I407V|PDE1A_ENST00000358139.2_Missense_Mutation_p.I441V|PDE1A_ENST00000456212.1_Missense_Mutation_p.I441V	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	441	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATAAGAGGAATAACAATTTTC	0.353																																																	0													69	71	71					2																	183051250		2203	4300	6503	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"Phosphodiesterases"	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1321A>G	2.37:g.183051250T>C	ENSP00000387037:p.Ile441Val		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.I441V	ENST00000410103.1	37	c.1321	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	T	10.46	1.355499	0.24598	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.29	2.71	0.32032	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.537282	0.22518	N	0.059006	T	0.65386	0.2686	L	0.34521	1.04	0.23361	N	0.99784	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12837	0.005;0.002;0.008;0.001;0.005	T	0.49560	-0.8927	10	0.30078	T	0.28	.	3.5552	0.07862	0.1595:0.2084:0.0:0.6321	.	337;407;441;425;441	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	V	441;407;337;425;441;425;441;441;441	ENSP00000410309:I441V;ENSP00000329112:I407V;ENSP00000439938:I337V;ENSP00000386767:I425V;ENSP00000331574:I441V;ENSP00000309269:I425V;ENSP00000387037:I441V;ENSP00000350858:I441V;ENSP00000408874:I441V	ENSP00000331574:I441V	I	-	1	0	PDE1A	182759495	0.182000	0.23173	0.999000	0.59377	0.994000	0.84299	0.532000	0.23067	0.829000	0.34733	0.533000	0.62120	ATT	PDE1A	-	pfam_PDEase_catalytic_dom	ENSG00000115252		0.353	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	-	0	41	0	T			183051250	-1	tier1	-	no_errors	ENST00000456212	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.991	C	C	183051250	T	C	183051250	3	2	83	1	0	0	0	0	1	0	0	0	11672	1406	49	4	376	4	PDE1A	2	183051250	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	700621	183051250	60148123	53	21936											
HECW2	57520	genome.wustl.edu	37	chr2	197184343	197184343	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagtggccattgtgtTcgatagcatctaagtaatca	10	12	11	8	1	2	0	1	0	1	0	3	2	2	1	2	2	1	3	2	2	3	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:197184343T>G	ENST00000260983.3	-	9	1453	c.1271A>C	c.(1270-1272)gAa>gCa	p.E424A	HECW2_ENST00000409111.1_Missense_Mutation_p.E68A	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	424					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCCATTGTGTTCGATAGCATC	0.512																																																	0													69	71	70					2																	197184343		2203	4300	6503	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1271A>C	2.37:g.197184343T>G	ENSP00000260983:p.Glu424Ala		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E424A	ENST00000260983.3	37	c.1271	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	T	10.59	1.391546	0.25118	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.44881	0.91;1.0	5.64	4.48	0.54585	.	1.022860	0.07729	N	0.945017	T	0.36413	0.0966	L	0.32530	0.975	0.50171	D	0.999858	B	0.17038	0.02	B	0.19946	0.027	T	0.05468	-1.0883	10	0.51188	T	0.08	.	10.2014	0.43087	0.0:0.0744:0.0:0.9256	.	424	Q9P2P5	HECW2_HUMAN	A	68;424	ENSP00000386775:E68A;ENSP00000260983:E424A	ENSP00000260983:E424A	E	-	2	0	HECW2	196892588	1.000000	0.71417	0.547000	0.28179	0.022000	0.10575	5.326000	0.65875	1.146000	0.42352	0.528000	0.53228	GAA	HECW2	-	NULL	ENSG00000138411		0.512	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0	19	0	T	NM_020760		197184343	-1			no_errors	ENST00000260983	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	G	G	197184343	T	G	197184343	3	3	83	1	0	0	0	0	1	0	0	0	7070	1783	62	4	3531	4	HECW2	2	197184343	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	14133093	197184343	46015030	54	21937											
SGOL2	151246	genome.wustl.edu	37	chr2	201436414	201436414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggtgcagaagatcccGgttttattttcaataatgaa	14	12	10	5	1	1	3	1	1	0	2	2	3	2	3	1	3	1	2	1	3	6	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:201436414G>A	ENST00000357799.4	+	7	1443	c.1345G>A	c.(1345-1347)Ggt>Agt	p.G449S		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	449					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGAAGATCCCGGTTTTATTTT	0.403																																																	0													107	107	107					2																	201436414		1838	4076	5914	SO:0001583	missense	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1345G>A	2.37:g.201436414G>A	ENSP00000350447:p.Gly449Ser		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.G449S	ENST00000357799.4	37	c.1345	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	G	3.766	-0.048521	0.07407	.	.	ENSG00000163535	ENST00000357799	T	0.43294	0.95	5.15	-3.8	0.04307	.	1.610810	0.03091	N	0.159831	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B;B;B	0.18166	0.026;0.026;0.026	B;B;B	0.06405	0.002;0.002;0.002	T	0.08785	-1.0705	10	0.27082	T	0.32	0.106	4.1916	0.10424	0.6324:0.109:0.1501:0.1085	.	449;449;449	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	S	449	ENSP00000350447:G449S	ENSP00000350447:G449S	G	+	1	0	SGOL2	201144659	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.807000	0.04520	-0.590000	0.05866	0.585000	0.79938	GGT	SGOL2	-	NULL	ENSG00000163535		0.403	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1		0	27	0	G	NM_152524		201436414	1			no_errors	ENST00000357799	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.000	A	A	201436414	G	A	201436414	3	1	83	1	0	0	0	0	1	0	0	0	14262	1116	39	1	1367	1	SGOL2	2	201436414	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	4252071	201436414	41762959	55	21938											
FAM119A	151194	genome.wustl.edu	37	chr2	208489022	208489022	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggatcgtgtggtttgcAaaggaaaaagttgcaagagg	13	10	14	4	1	1	1	0	0	1	1	2	3	1	3	0	4	2	4	0	4	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:208489022A>G	ENST00000411432.1	-	2	294	c.78T>C	c.(76-78)ttT>ttC	p.F26F	METTL21A_ENST00000432416.1_Silent_p.F26F|METTL21A_ENST00000458426.1_Silent_p.F26F|METTL21A_ENST00000426075.1_Silent_p.F26F|METTL21A_ENST00000272839.3_Silent_p.F26F|METTL21A_ENST00000448823.2_Silent_p.F26F|METTL21A_ENST00000406927.2_Silent_p.F26F|METTL21A_ENST00000448007.2_Silent_p.F26F|METTL21A_ENST00000442521.1_Silent_p.F26F|METTL21A_ENST00000425132.1_Silent_p.F26F	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	26					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						TGTGGTTTGCAAAGGAAAAAG	0.577																																																	0													70	68	68					2																	208489022		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 557b", "heat shock protein 70kDa lysine (K) methyltransferase"	615257	"family with sequence similarity 119, member A"	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.78T>C	2.37:g.208489022A>G			Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.F26	ENST00000411432.1	37	c.78	CCDS2376.1	2																																																																																			METTL21A	-	NULL	ENSG00000144401		0.577	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21A	HGNC	protein_coding	OTTHUMT00000337044.1	-	0	107	0	A	NM_145280		208489022	-1	tier1	-	no_errors	ENST00000406927	ensembl	human	known	74_37	silent	33.96	70	36	SNP	0.974	G	G	208489022	A	G	208489022	2	3	83	1	0	0	0	0	0	0	0	1	5432	127	5	4		4	FAM119A	2	208489022	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	7052608	208489022	34710351	56	21939											
CPS1	1373	genome.wustl.edu	37	chr2	211521321	211521321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagatgccactctgatgctgCccacacaaaccatcagccaa	13	6	7	15	0	2	2	1	1	1	1	2	3	2	2	4	0	5	1	4	0	2	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:211521321C>T	ENST00000233072.5	+	30	3827	c.3631C>T	c.(3631-3633)Ccc>Tcc	p.P1211S	CPS1_ENST00000430249.2_Missense_Mutation_p.P1217S|CPS1_ENST00000451903.2_Missense_Mutation_p.P760S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1211	ATP-grasp 2.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TCTGATGCTGCCCACACAAAC	0.413																																																	0													72	72	72					2																	211521321		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3631C>T	2.37:g.211521321C>T	ENSP00000233072:p.Pro1211Ser		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.P1217S	ENST00000233072.5	37	c.3649	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	C	29.4	4.998894	0.93227	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.99523	-6.08;-6.08;-6.08	5.87	5.87	0.94306	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.99117	4.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.87932	D	0	-7.9014	20.206	0.98277	0.0:1.0:0.0:0.0	.	1221;1211	Q59HF8;P31327	.;CPSM_HUMAN	S	1217;1219;1211;760	ENSP00000402608:P1217S;ENSP00000233072:P1211S;ENSP00000406136:P760S	ENSP00000233072:P1211S	P	+	1	0	CPS1	211229566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.340000	0.79292	2.785000	0.95823	0.655000	0.94253	CCC	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	63	0	C			211521321	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	5.32	89	5	SNP	1.000	T	T	211521321	C	T	211521321	3	4	83	1	0	0	0	0	1	0	0	0	3830	739	26	3	3771	3	CPS1	2	211521321	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	3032299	211521321	31678052	57	21940											
FN1	2335	genome.wustl.edu	37	chr2	216236888	216236888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtggccgttgtgggcGgtgtggtccgcctaaaacca	5	9	18	9	3	0	0	0	0	0	0	1	0	1	0	4	6	1	1	4	6	2	2	rs199867755		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:216236888G>T	ENST00000359671.1	-	39	6450	c.6185C>A	c.(6184-6186)cCg>cAg	p.P2062Q	FN1_ENST00000323926.6_Missense_Mutation_p.P2153Q|FN1_ENST00000432072.2_Intron|FN1_ENST00000443816.1_Missense_Mutation_p.P1972Q|FN1_ENST00000356005.4_Missense_Mutation_p.P1972Q|FN1_ENST00000421182.1_Missense_Mutation_p.P1947Q|FN1_ENST00000446046.1_Missense_Mutation_p.P2037Q|FN1_ENST00000357867.4_Intron|FN1_ENST00000354785.4_Missense_Mutation_p.P2153Q|FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.P2062Q|FN1_ENST00000357009.2_Intron			P02751	FINC_HUMAN	fibronectin 1	2062	Connecting strand 3 (CS-3) (V region).				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CGTTGTGGGCGGTGTGGTCCG	0.522																																																	0													130	114	120					2																	216236888		2203	4300	6503	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6185C>A	2.37:g.216236888G>T	ENSP00000352696:p.Pro2062Gln		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.P2153Q	ENST00000359671.1	37	c.6458		2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307279	0.81247	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000446046;ENST00000443816;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T	0.49139	0.81;2.29;2.47;2.44;2.1;2.1;1.65;1.49;0.79;1.45	6.16	6.16	0.99307	.	0.187400	0.37393	N	0.002105	T	0.65852	0.2731	L	0.54323	1.7	0.80722	D	1	D;B;D;D;D;D;D;D;D;D	0.89917	1.0;0.109;0.999;0.998;0.986;0.998;1.0;1.0;0.985;0.996	D;B;D;D;P;D;D;D;P;D	0.91635	0.983;0.073;0.987;0.935;0.8;0.971;0.999;0.999;0.872;0.935	T	0.60469	-0.7257	10	0.42905	T	0.14	.	18.3537	0.90348	0.0:0.0:1.0:0.0	.	1853;2153;1972;2037;2062;2063;1947;1972;2153;2062	Q68CX6;P02751-7;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;FINC_HUMAN	Q	1947;2153;2062;2153;2063;2062;2037;1972;1972;779;156	ENSP00000394423:P1947Q;ENSP00000323534:P2153Q;ENSP00000338200:P2062Q;ENSP00000346839:P2153Q;ENSP00000352696:P2062Q;ENSP00000410422:P2037Q;ENSP00000415018:P1972Q;ENSP00000348285:P1972Q;ENSP00000416139:P779Q;ENSP00000392565:P156Q	ENSP00000265313:P2063Q	P	-	2	0	FN1	215945133	1.000000	0.71417	0.995000	0.50966	0.903000	0.53119	3.681000	0.54648	2.937000	0.99478	0.650000	0.86243	CCG	FN1	-	NULL	ENSG00000115414		0.522	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding			0	55	0	G	NM_212476		216236888	-1			no_errors	ENST00000354785	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	216236888	G	T	216236888	3	4	83	1	0	0	0	0	1	0	0	0	5984	1116	39	2	1003	2	FN1	2	216236888	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	4715567	216236888	26962485	58	21941											
SCG2	7857	genome.wustl.edu	37	chr2	224462806	224462806	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacaggtctggatggtctaAgtcagcctctgagatgtcat	10	11	12	8	0	5	1	2	1	3	1	5	4	5	2	1	3	2	0	1	3	2	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:224462806A>C	ENST00000305409.2	-	2	1427	c.1195T>G	c.(1195-1197)Tta>Gta	p.L399V		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGATGGTCTAAGTCAGCCTCT	0.532																																																	0													82	75	78					2																	224462806		2203	4300	6503	SO:0001583	missense	0			M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"secretoneurin", "chromogranin C"	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.1195T>G	2.37:g.224462806A>C	ENSP00000304133:p.Leu399Val		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.L399V	ENST00000305409.2	37	c.1195	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	A	1.277	-0.611421	0.03690	.	.	ENSG00000171951	ENST00000305409;ENST00000450330	T	0.01745	4.66	5.73	-6.4	0.01944	.	0.959682	0.08619	N	0.918695	T	0.00875	0.0029	N	0.25647	0.755	0.09310	N	0.999998	B	0.06786	0.001	B	0.09377	0.004	T	0.50684	-0.8799	10	0.02654	T	1	.	0.3568	0.00358	0.2495:0.2705:0.2243:0.2557	.	399	P13521	SCG2_HUMAN	V	399;259	ENSP00000304133:L399V	ENSP00000304133:L399V	L	-	1	2	SCG2	224171050	0.395000	0.25254	0.244000	0.24202	0.987000	0.75469	-0.407000	0.07178	-0.484000	0.06763	0.454000	0.30748	TTA	SCG2	-	pfam_Granin	ENSG00000171951		0.532	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0	52	0	A	NM_003469		224462806	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	missense	20.51	30	8	SNP	0.001	C	C	224462806	A	C	224462806	3	2	83	1	0	0	0	0	1	0	0	0	13936	69	3	4	662	4	SCG2	2	224462806	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	8225918	224462806	18736567	59	21942											
IRS1	3667	genome.wustl.edu	37	chr2	227661413	227661413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgctgctgctgctgctgCtgctggggccacctccaatg	3	11	13	14	1	0	0	0	0	0	0	1	0	1	0	3	2	7	8	3	2	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:227661413C>T	ENST00000305123.5	-	1	3062	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	681	Poly-Ser.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		gctgctgctgctgctgGGGCC	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													48	51	50					2																	227661413		2203	4300	6503	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"Pleckstrin homology (PH) domain containing"	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2042G>A	2.37:g.227661413C>T	ENSP00000304895:p.Ser681Asn	2321		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.S681N	ENST00000305123.5	37	c.2042	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736578	0.30774	.	.	ENSG00000169047	ENST00000305123	T	0.57436	0.4	3.06	3.06	0.35304	.	0.516694	0.16300	N	0.220514	T	0.27900	0.0687	N	0.08118	0	0.21802	N	0.999534	B	0.23058	0.079	B	0.15870	0.014	T	0.09596	-1.0667	10	0.17369	T	0.5	-4.4784	10.0298	0.42094	0.0:1.0:0.0:0.0	.	681	P35568	IRS1_HUMAN	N	681	ENSP00000304895:S681N	ENSP00000304895:S681N	S	-	2	0	IRS1	227369657	0.687000	0.27671	0.702000	0.30337	0.992000	0.81027	0.000000	0.12993	2.097000	0.63578	0.549000	0.68633	AGC	IRS1	-	NULL	ENSG00000169047		0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	-	0	64	0	C	NM_005544		227661413	-1	tier1	-	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.749	T	T	227661413	C	T	227661413	3	4	83	1	0	0	0	0	1	0	0	0	7867	797	28	3	1690	3	IRS1	2	227661413	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	3198607	227661413	15537960	60	21943											
SPP2	6694	genome.wustl.edu	37	chr2	234959516	234959516	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactactggtcttgctcagGtaaggtattcaccaacctgg	10	11	10	10	0	3	0	2	0	1	0	3	1	3	0	2	4	4	3	2	4	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr2:234959516G>T	ENST00000168148.3	+	1	173		c.e1+1		SPP2_ENST00000492481.1_Splice_Site|SPP2_ENST00000373368.1_Splice_Site	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa						bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TCTTGCTCAGGTAAGGTATTC	0.478																																																	0													251	227	235					2																	234959516		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"secreted phosphoprotein 2, 24kD"			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.85+1G>T	2.37:g.234959516G>T			A4QMV3|Q3B892|Q546M5	Splice_Site	SNP	-	e1+1	ENST00000168148.3	37	c.85+1	CCDS2511.1	2	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093071	0.56075	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6509	0.68797	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPP2	234624255	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.652000	0.61454	2.528000	0.85240	0.650000	0.86243	.	SPP2	-	-	ENSG00000072080		0.478	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3		0	71	0	G	NM_006944	Intron	234959516	1			no_errors	ENST00000168148	ensembl	human	known	74_37	splice_site	6.00	47	3	SNP	1.000	T	T	234959516	G	T	234959516	5	4	83	1	0	0	0	0	0	0	1	0	15134	1275	44	3	88	3	SPP2	2	234959516	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	7298103	234959516	8239857	61	21944											
C3orf23	285343	genome.wustl.edu	37	chr3	44408948	44408948	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggggaattatattctctagGatttcgagcagtcaaattta	12	14	10	5	1	2	0	1	0	1	0	4	3	2	2	0	3	1	1	0	3	6	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:44408948G>C	ENST00000342649.4	+	5	747	c.320G>C	c.(319-321)gGa>gCa	p.G107A	TCAIM_ENST00000417237.1_Splice_Site_p.G107A	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	107						mitochondrion (GO:0005739)											TATTCTCTAGGATTTCGAGCA	0.303																																																	0													62	65	64					3																	44408948		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"tolerance associated gene-1"		"chromosome 3 open reading frame 23"	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.320-1G>C	3.37:g.44408948G>C			A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.G107A	ENST00000342649.4	37	c.320	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888958	0.91814	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.44881	0.91;0.91	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66107	0.2756	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63980	-0.6514	9	.	.	.	.	19.8052	0.96529	0.0:0.0:1.0:0.0	.	107	Q8N3R3	CC023_HUMAN	A	107	ENSP00000402581:G107A;ENSP00000341539:G107A	.	G	+	2	0	C3orf23	44383952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.414000	0.97362	2.692000	0.91855	0.650000	0.86243	GGA	TCAIM	-	NULL	ENSG00000179152		0.303	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	-	0	69	0	G	NM_173826	Missense_Mutation	44408948	1	tier1	-	no_errors	ENST00000342649	ensembl	human	known	74_37	missense	29.35	65	27	SNP	1.000	C	C	44408948	G	C	44408948	5	2	83	1	0	0	0	0	0	0	1	0	2223	1188	41	5	386	5	C3orf23	3	44408948	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		44408948	153613482	62	21945											
ZNF660	285349	genome.wustl.edu	37	chr3	44636561	44636561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctcaagttattctacaCttgagaacccacactaagga	14	11	5	11	0	2	1	1	1	2	1	3	3	2	2	1	1	2	1	1	1	5	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:44636561C>A	ENST00000322734.2	+	3	1209	c.876C>A	c.(874-876)caC>caA	p.H292Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H292H(1)		large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTATTCTACACTTGAGAACCC	0.403																																																	1	Substitution - coding silent(1)	large_intestine(1)											54	55	55					3																	44636561		2203	4300	6503	SO:0001583	missense	0			AK094189	CCDS2716.1	3p21.32	2013-01-08			ENSG00000144792	ENSG00000144792		"Zinc fingers, C2H2-type"	26720	protein-coding gene	gene with protein product							Standard	NM_173658		Approved	FLJ36870	uc003cnl.1	Q6AZW8	OTTHUMG00000133097	ENST00000322734.2:c.876C>A	3.37:g.44636561C>A	ENSP00000324605:p.His292Gln		Q7Z331|Q8N9M8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H292Q	ENST00000322734.2	37	c.876	CCDS2716.1	3	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910880	0.52439	.	.	ENSG00000144792	ENST00000322734	D	0.86865	-2.18	4.21	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92532	0.7628	M	0.94021	3.485	0.80722	D	1	D	0.59357	0.985	P	0.57057	0.812	D	0.91538	0.5247	8	.	.	.	.	7.1007	0.25336	0.0:0.1958:0.0:0.8042	.	292	Q6AZW8	ZN660_HUMAN	Q	292	ENSP00000324605:H292Q	.	H	+	3	2	ZNF660	44611565	0.001000	0.12720	1.000000	0.80357	0.992000	0.81027	-0.132000	0.10467	0.750000	0.32877	-0.300000	0.09419	CAC	ZNF660	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000144792		0.403	ZNF660-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF660	HGNC	protein_coding	OTTHUMT00000256756.4		0	39	0	C	NM_173658		44636561	1			no_errors	ENST00000322734	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.999	A	A	44636561	C	A	44636561	3	1	83	1	0	0	0	0	1	0	0	0	18118	564	20	3	878	3	ZNF660	3	44636561	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	227613	44636561	153385869	63	21946											
TMIE	259236	genome.wustl.edu	37	chr3	46751074	46751076	+	In_Frame_Del	DEL	AAG	AAG	-																															ccccctgccccacagaggatAagaagaagaagaagaagaag																								rs552239745|rs397817178|rs10578999|rs372639803|rs544504092|rs538183178|rs71619660|rs75020261	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:46751074_46751076delAAG	ENST00000326431.3	+	4	522_524	c.367_369delAAG	c.(367-369)aagdel	p.K131del		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	131	Lys-rich.			Missing (in Ref. 1; AAL89820 and 4; AAI26259/AAI26261). {ECO:0000305}.	inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CACAGAGGATaagaagaagaaga	0.502																																																	0																																										SO:0001651	inframe_deletion	0			AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"deafness, autosomal recessive 6"	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.367_369delAAG	3.37:g.46751083_46751085delAAG	ENSP00000324775:p.Lys131del		A0AV93|A8K0R0	In_Frame_Del	DEL	NULL	p.K126in_frame_del	ENST00000326431.3	37	c.367_369	CCDS43081.1	3																																																																																			TMIE	-	NULL	ENSG00000181585		0.502	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIE	HGNC	protein_coding	OTTHUMT00000313853.1		0	46	0	AAG	NM_147196		46751076	1	tier1		no_errors	ENST00000326431	ensembl	human	known	74_37	in_frame_del	10.71	25	3	DEL	0.074:0.151:0.294	-	-	46751076	AAG	-	46751074	7	5	83	1	0	1	0	1	0	0	0	0	16276	363	13	0	381	0	TMIE	3	46751074	In_Frame_Del	DEL	AAG	TCGA-L5-A8NI-01A-11D-A37C-09	2114513	46751074	151271356	64	21947											
ARIH2	10425	genome.wustl.edu	37	chr3	48965152	48965152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagggggctgatgcctTtgatcccgaggagtaccagt	8	8	15	10	1	0	2	0	2	0	0	1	4	1	3	3	3	3	4	3	3	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:48965152T>A	ENST00000356401.4	+	3	500	c.161T>A	c.(160-162)tTt>tAt	p.F54Y	ARIH2_ENST00000490095.1_Intron|ARIH2_ENST00000449376.1_Missense_Mutation_p.F54Y	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	54	Asp/Glu-rich (acidic).				developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCTGATGCCTTTGATCCCGAG	0.527																																																	0													112	106	108					3																	48965152		2203	4300	6503	SO:0001583	missense	0			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"all-trans retinoic acid inducible RING finger"	605615	"ariadne (Drosophila) homolog 2", "ariadne homolog 2 (Drosophila)"			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.161T>A	3.37:g.48965152T>A	ENSP00000348769:p.Phe54Tyr		Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING	p.F54Y	ENST00000356401.4	37	c.161	CCDS2780.1	3	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551563	0.45487	.	.	ENSG00000177479	ENST00000452882;ENST00000430423;ENST00000356401;ENST00000449376;ENST00000420814;ENST00000449729;ENST00000433170;ENST00000444790	T;T;D;D;T;T;T	0.82167	1.44;1.49;-1.58;-1.58;1.44;0.9;0.67	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	L	0.51422	1.61	0.58432	D	0.999999	P;D;D;D	0.67145	0.924;0.996;0.989;0.957	P;D;D;B	0.72982	0.878;0.979;0.953;0.306	D	0.83441	0.0043	10	0.12766	T	0.61	.	15.5094	0.75769	0.0:0.0:0.0:1.0	.	61;54;54;54	B3KMG5;C9JBC5;F8WCS4;O95376	.;.;.;ARI2_HUMAN	Y	54;54;54;54;54;54;54;53	ENSP00000395560:F54Y;ENSP00000399788:F54Y;ENSP00000348769:F54Y;ENSP00000403222:F54Y;ENSP00000397225:F54Y;ENSP00000404838:F54Y;ENSP00000406063:F54Y	ENSP00000348769:F54Y	F	+	2	0	ARIH2	48940156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.757000	0.68766	2.131000	0.65755	0.451000	0.29950	TTT	ARIH2	-	NULL	ENSG00000177479		0.527	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	-	0	70	0	T	NM_006321		48965152	1	tier1	-	no_errors	ENST00000356401	ensembl	human	known	74_37	missense	23.81	48	15	SNP	1.000	A	A	48965152	T	A	48965152	3	1	83	1	0	0	0	0	1	0	0	0	924	1841	64	5	163	5	ARIH2	3	48965152	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	2214078	48965152	149057278	65	21948											
DNAH1	25981	genome.wustl.edu	37	chr3	52416392	52416392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactacggcatgtccgagtGgcgagatgatgtgaagaagg	12	7	16	6	3	0	4	0	2	0	2	1	7	1	4	1	3	2	1	1	3	4	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:52416392G>T	ENST00000420323.2	+	50	8123	c.7862G>T	c.(7861-7863)tGg>tTg	p.W2621L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2621	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGTCCGAGTGGCGAGATGAT	0.567																																																	0													161	169	167					3																	52416392		2145	4257	6402	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7862G>T	3.37:g.52416392G>T	ENSP00000401514:p.Trp2621Leu		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.W2621L	ENST00000420323.2	37	c.7862	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312815	0.60414	.	.	ENSG00000114841	ENST00000420323	T	0.30714	1.52	4.49	4.49	0.54785	.	0.000000	0.48286	D	0.000188	T	0.50735	0.1633	L	0.53671	1.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44345	-0.9334	10	0.34782	T	0.22	.	17.3812	0.87405	0.0:0.0:1.0:0.0	.	2621	C9JXH6	.	L	2621	ENSP00000401514:W2621L	ENSP00000401514:W2621L	W	+	2	0	DNAH1	52391432	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	9.657000	0.98554	2.322000	0.78497	0.462000	0.41574	TGG	DNAH1	-	superfamily_P-loop_NTPase	ENSG00000114841		0.567	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	33	0	G	NM_015512		52416392	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	T	T	52416392	G	T	52416392	3	4	83	1	0	0	0	0	1	0	0	0	4611	1357	47	3	8056	3	DNAH1	3	52416392	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3451240	52416392	145606038	66	21949											
C3orf63	23272	genome.wustl.edu	37	chr3	56661674	56661674	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaacctccagatacaaaTaattcattgtatgtatgatt	17	14	4	6	0	1	2	1	1	0	1	2	2	2	2	2	0	2	2	2	0	7	8			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:56661674T>G	ENST00000493960.2	-	20	3976	c.3966A>C	c.(3964-3966)ttA>ttC	p.L1322F	FAM208A_ENST00000485156.1_5'Flank|FAM208A_ENST00000431842.2_Missense_Mutation_p.L885F|FAM208A_ENST00000355628.5_Missense_Mutation_p.L1261F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1322							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CAGATACAAATAATTCATTGT	0.378																																																	0													104	102	103					3																	56661674		2203	4300	6503	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3966A>C	3.37:g.56661674T>G	ENSP00000417509:p.Leu1322Phe		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.L1261F	ENST00000493960.2	37	c.3783	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	18.26	3.584114	0.65992	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.57436	0.4;0.4;0.4	5.56	-2.97	0.05530	.	0.000000	0.47852	D	0.000219	T	0.62527	0.2435	M	0.77313	2.365	0.33281	D	0.562323	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.988;1.0;0.999;0.922	T	0.64846	-0.6311	10	0.72032	D	0.01	-8.8652	3.7871	0.08704	0.1035:0.4172:0.2069:0.2725	.	1322;1261;885;1322	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	F	885;1322;1261	ENSP00000399410:L885F;ENSP00000417509:L1322F;ENSP00000347845:L1261F	ENSP00000347845:L1261F	L	-	3	2	C3orf63	56636714	0.437000	0.25593	0.984000	0.44739	0.988000	0.76386	-0.369000	0.07533	-0.327000	0.08551	-0.326000	0.08463	TTA	FAM208A	-	NULL	ENSG00000163946		0.378	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0	44	0	T	NM_015224		56661674	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	missense	20.73	65	17	SNP	0.385	G	G	56661674	T	G	56661674	3	3	83	1	0	0	0	0	1	0	0	0	2246	1403	49	4	1126	4	C3orf63	3	56661674	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	4245282	56661674	141360756	67	21950											
ROBO2	6092	genome.wustl.edu	37	chr3	77629225	77629225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggttgcagctagtaccaGtgcaggggttggagtaaaga	12	8	16	5	0	0	2	0	0	0	2	0	3	0	3	1	4	4	7	1	4	4	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:77629225G>A	ENST00000461745.1	+	16	3356	c.2456G>A	c.(2455-2457)aGt>aAt	p.S819N	ROBO2_ENST00000487694.3_Missense_Mutation_p.S835N|ROBO2_ENST00000332191.8_Missense_Mutation_p.S819N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	819	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.S819N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTAGTACCAGTGCAGGGGTT	0.448																																																	1	Substitution - Missense(1)	lung(1)											104	106	105					3																	77629225		1922	4130	6052	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2456G>A	3.37:g.77629225G>A	ENSP00000417164:p.Ser819Asn		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S819N	ENST00000461745.1	37	c.2456	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611217	0.66558	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.56776	0.44;0.44;0.44	5.53	3.74	0.42951	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.138561	0.32459	N	0.006063	T	0.50205	0.1602	L	0.58510	1.815	0.36803	D	0.885460	B;B;B	0.27951	0.195;0.095;0.116	B;B;B	0.35278	0.152;0.094;0.199	T	0.56992	-0.7887	9	0.27785	T	0.31	.	11.2105	0.48795	0.1485:0.0:0.8515:0.0	.	835;819;819	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	835;835;839;819;819;540	ENSP00000417335:S835N;ENSP00000417164:S819N;ENSP00000327536:S819N	ENSP00000327536:S819N	S	+	2	0	ROBO2	77711915	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.076000	0.57591	0.701000	0.31803	0.563000	0.77884	AGT	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2		0	31	0	G	XM_031246		77629225	1			no_errors	ENST00000461745	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	77629225	G	A	77629225	3	1	83	1	0	0	0	0	1	0	0	0	13559	1029	36	3	2520	3	ROBO2	3	77629225	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	20967551	77629225	120393205	68	21951											
ARL13B	200894	genome.wustl.edu	37	chr3	93762078	93762078	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacagaccggccatcattgGaatcaggtaataaatctagt	15	9	9	8	1	3	2	2	0	1	2	3	3	3	3	2	3	0	1	2	3	5	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:93762078G>T	ENST00000394222.3	+	7	1293	c.1018G>T	c.(1018-1020)Gaa>Taa	p.E340*	ARL13B_ENST00000539730.1_Nonsense_Mutation_p.E61*|ARL13B_ENST00000303097.7_Nonsense_Mutation_p.E233*|ARL13B_ENST00000471138.1_Nonsense_Mutation_p.E340*|ARL13B_ENST00000535334.1_Nonsense_Mutation_p.E237*	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	340					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GCCATCATTGGAATCAGGTAA	0.279																																																	0													54	54	54					3																	93762078		2201	4300	6501	SO:0001587	stop_gained	0			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1018G>T	3.37:g.93762078G>T	ENSP00000377769:p.Glu340*		D3DN29|G3V1S8|Q504W8|Q8TCL5	Nonsense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.E340*	ENST00000394222.3	37	c.1018	CCDS2925.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.296665	0.95574	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	.	.	.	5.33	5.33	0.75918	.	0.315718	0.30959	N	0.008534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.7865	17.1398	0.86749	0.0:0.0:1.0:0.0	.	.	.	.	X	237;233;340;340;61	.	ENSP00000306225:E233X	E	+	1	0	ARL13B	95244768	1.000000	0.71417	0.997000	0.53966	0.305000	0.27757	4.121000	0.57904	2.656000	0.90262	0.655000	0.94253	GAA	ARL13B	-	NULL	ENSG00000169379		0.279	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	-	0	82	0	G	NM_182896		93762078	1	tier1	-	no_errors	ENST00000394222	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T	T	93762078	G	T	93762078	4	4	83	1	0	0	0	0	0	1	0	0	929	1175	41	3	1044	3	ARL13B	3	93762078	Nonsense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	16132853	93762078	104260352	69	21952											
GOLGB1	2804	genome.wustl.edu	37	chr3	121413865	121413865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattaatttcatcatgtgaGctgaaatccttacttacagc	12	16	5	8	0	2	2	2	2	0	0	3	2	3	2	1	0	4	1	1	0	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:121413865G>C	ENST00000340645.5	-	13	5615	c.5490C>G	c.(5488-5490)agC>agG	p.S1830R	GOLGB1_ENST00000393667.3_Missense_Mutation_p.S1835R	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1830					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATCATGTGAGCTGAAATCCT	0.423																																																	0													146	152	150					3																	121413865		2203	4300	6503	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5490C>G	3.37:g.121413865G>C	ENSP00000341848:p.Ser1830Arg		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.S1830R	ENST00000340645.5	37	c.5490	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.559251	0.00910	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.14640	2.49;2.49	5.41	2.49	0.30216	.	0.092424	0.48286	D	0.000198	T	0.20129	0.0484	M	0.65975	2.015	0.19775	N	0.999957	B;D;D;B	0.53462	0.009;0.96;0.96;0.006	B;P;P;B	0.53649	0.013;0.731;0.731;0.006	T	0.06954	-1.0798	10	0.21014	T	0.42	.	6.0878	0.19976	0.3764:0.0:0.6236:0.0	.	1755;1835;1835;1830	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	R	1830;1835	ENSP00000341848:S1830R;ENSP00000377275:S1835R	ENSP00000341848:S1830R	S	-	3	2	GOLGB1	122896555	0.000000	0.05858	0.159000	0.22649	0.041000	0.13682	-0.166000	0.09954	0.853000	0.35312	-0.137000	0.14449	AGC	GOLGB1	-	NULL	ENSG00000173230		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0	55	0	G	NM_004487		121413865	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.401	C	C	121413865	G	C	121413865	3	2	83	1	0	0	0	0	1	0	0	0	6591	962	34	5	4329	5	GOLGB1	3	121413865	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	27651787	121413865	76608565	70	21953											
COMMD2	51122	genome.wustl.edu	37	chr3	149459348	149459348	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcctacagtgatttgtcTtcatctcttccaatgcttgt	6	18	5	12	0	4	1	1	1	3	0	7	1	5	1	2	0	2	1	2	0	2	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:149459348T>G	ENST00000473414.1	-	5	614	c.560A>C	c.(559-561)aAg>aCg	p.K187T		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	187	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTGATTTGTCTTCATCTCTTC	0.383																																																	0													185	188	187					3																	149459348		2203	4300	6503	SO:0001583	missense	0			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.560A>C	3.37:g.149459348T>G	ENSP00000419475:p.Lys187Thr		Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	pfam_HCaRG	p.K187T	ENST00000473414.1	37	c.560	CCDS3145.1	3	.	.	.	.	.	.	.	.	.	.	T	31	5.094598	0.94149	.	.	ENSG00000114744	ENST00000473414	T	0.09817	2.94	5.97	5.97	0.96955	COMM domain (1);	0.043207	0.85682	D	0.000000	T	0.33469	0.0864	M	0.80508	2.5	0.80722	D	1	D	0.59357	0.985	P	0.60345	0.873	T	0.07083	-1.0791	10	0.72032	D	0.01	-31.2399	16.4608	0.84044	0.0:0.0:0.0:1.0	.	187	Q86X83	COMD2_HUMAN	T	187	ENSP00000419475:K187T	ENSP00000419475:K187T	K	-	2	0	COMMD2	150942038	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.742000	0.55097	2.288000	0.76882	0.533000	0.62120	AAG	COMMD2	-	pfam_HCaRG	ENSG00000114744		0.383	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD2	HGNC	protein_coding	OTTHUMT00000356515.1	-	0	60	0	T	NM_016094		149459348	-1	tier1	-	no_errors	ENST00000473414	ensembl	human	known	74_37	missense	21.74	54	15	SNP	1.000	G	G	149459348	T	G	149459348	3	3	83	1	0	0	0	0	1	0	0	0	3723	1609	56	4	43	4	COMMD2	3	149459348	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	28045483	149459348	48563082	71	21954											
PLCH1	23007	genome.wustl.edu	37	chr3	155200283	155200283	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggctcattctcatttgttaAagtgacattgtcaataagat	12	15	7	7	1	3	2	3	1	1	1	4	2	3	2	0	1	0	2	0	1	4	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:155200283A>C	ENST00000340059.7	-	23	3555	c.3556T>G	c.(3556-3558)Tta>Gta	p.L1186V	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.L1148V|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.L1148V|PLCH1_ENST00000460012.1_Missense_Mutation_p.L1148V	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1186					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATTTGTTAAAGTGACATTG	0.433																																																	0													69	69	69					3																	155200283		2203	4300	6503	SO:0001583	missense	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3556T>G	3.37:g.155200283A>C	ENSP00000345988:p.Leu1186Val		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.L1186V	ENST00000340059.7	37	c.3556	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276671	0.59758	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.57	1.75	0.24633	.	1.049620	0.07416	N	0.893172	T	0.53674	0.1811	L	0.34521	1.04	0.32722	N	0.51022	D;D	0.71674	0.998;0.997	D;P	0.68353	0.957;0.907	T	0.53215	-0.8470	10	0.62326	D	0.03	.	5.6199	0.17451	0.684:0.0:0.1997:0.1162	.	1148;1186	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	V	1148;1186;1148;1148	ENSP00000417502:L1148V;ENSP00000345988:L1186V;ENSP00000335469:L1148V;ENSP00000412977:L1148V	ENSP00000335469:L1148V	L	-	1	2	PLCH1	156682977	0.875000	0.30112	0.011000	0.14972	0.996000	0.88848	1.444000	0.35068	0.058000	0.16222	0.482000	0.46254	TTA	PLCH1	-	NULL	ENSG00000114805		0.433	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	-	0	41	0	A	NM_014996		155200283	-1	tier1	-	no_errors	ENST00000340059	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.643	C	C	155200283	A	C	155200283	3	2	83	1	0	0	0	0	1	0	0	0	12076	11	1	4	1529	4	PLCH1	3	155200283	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	5740935	155200283	42822147	72	21955											
NLGN1	22871	genome.wustl.edu	37	chr3	173996750	173996750	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaatgttggccacaaaagTtggttgcaatgtttcagata	13	13	10	5	0	1	2	1	0	0	2	1	2	1	2	1	2	1	5	1	2	6	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:173996750T>G	ENST00000457714.1	+	6	1388	c.959T>G	c.(958-960)gTt>gGt	p.V320G	NLGN1_ENST00000361589.4_Missense_Mutation_p.V320G|NLGN1_ENST00000401917.3_Missense_Mutation_p.V360G|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.V320G	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	337					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCCACAAAAGTTGGTTGCAAT	0.423																																																	0													132	125	127					3																	173996750		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.959T>G	3.37:g.173996750T>G	ENSP00000392500:p.Val320Gly		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.V360G	ENST00000457714.1	37	c.1079	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839364	0.71488	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	D	0.88576	0.3133	10	0.87932	D	0	.	16.065	0.80865	0.0:0.0:0.0:1.0	.	360;320	D2X2H5;Q8N2Q7-2	.;.	G	320;320;360;320;360	ENSP00000392500:V320G;ENSP00000354541:V320G;ENSP00000410374:V360G;ENSP00000441108:V320G;ENSP00000385750:V360G	ENSP00000354541:V320G	V	+	2	0	NLGN1	175479444	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.257000	0.74773	0.460000	0.39030	GTT	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.423	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	41	0	T	NM_014932		173996750	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	G	G	173996750	T	G	173996750	3	3	83	1	0	0	0	0	1	0	0	0	10500	1725	60	4	973	4	NLGN1	3	173996750	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	18796467	173996750	24025680	73	21956											
LRCH3	84859	genome.wustl.edu	37	chr3	197559084	197559084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagcctacagatgaattttCagatctgcctcttcgagtag	11	13	8	9	1	3	3	1	1	2	2	4	4	3	3	2	0	3	1	2	0	4	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr3:197559084C>T	ENST00000425562.2	+	8	998	c.998C>T	c.(997-999)tCa>tTa	p.S333L	LRCH3_ENST00000414675.2_Missense_Mutation_p.S333L|LRCH3_ENST00000536618.1_5'UTR|AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000438796.2_Missense_Mutation_p.S333L|LRCH3_ENST00000441090.2_Missense_Mutation_p.S207L|LRCH3_ENST00000334859.4_Missense_Mutation_p.S333L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	333						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.S333*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GATGAATTTTCAGATCTGCCT	0.423																																																	1	Substitution - Nonsense(1)	large_intestine(1)											77	74	75					3																	197559084		2203	4300	6503	SO:0001583	missense	0			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.998C>T	3.37:g.197559084C>T	ENSP00000393579:p.Ser333Leu		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.S333L	ENST00000425562.2	37	c.998		3	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033516	0.93575	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.37915	1.85;1.17;1.85;2.01;1.86	5.51	5.51	0.81932	.	0.073222	0.56097	D	0.000022	T	0.51500	0.1678	L	0.31065	0.9	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.984	D;P;D;D	0.91635	0.982;0.882;0.999;0.933	T	0.54186	-0.8331	10	0.87932	D	0	-14.58	19.4531	0.94876	0.0:1.0:0.0:0.0	.	207;333;333;333	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	L	333;207;333;333;333	ENSP00000399751:S333L;ENSP00000394609:S207L;ENSP00000394965:S333L;ENSP00000334375:S333L;ENSP00000393579:S333L	ENSP00000334375:S333L	S	+	2	0	LRCH3	199043481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.680000	0.74518	2.601000	0.87937	0.585000	0.79938	TCA	LRCH3	-	NULL	ENSG00000186001		0.423	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1		0	78	0	C	NM_032773		197559084	1			no_errors	ENST00000438796	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	197559084	C	T	197559084	3	4	83	1	0	0	0	0	1	0	0	0	8969	838	29	3	1028	3	LRCH3	3	197559084	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	23562334	197559084	463346	74	21957											
GRK4	2868	genome.wustl.edu	37	chr4	3030927	3030927	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctgtatttgttatgtaGcacctgaagttgtcaataat	10	18	7	6	0	1	1	1	1	0	0	2	1	2	1	2	0	1	5	2	0	6	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:3030927G>T	ENST00000398052.4	+	12	1403		c.e12-1		GRK4_ENST00000398051.4_Splice_Site|GRK4_ENST00000504933.1_Splice_Site|GRK4_ENST00000509545.1_Splice_Site|GRK4_ENST00000345167.6_Splice_Site	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4						G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGTTATGTAGCACCTGAAGT	0.338																																																	0													71	71	71					4																	3030927		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"G protein-coupled receptor kinase 2-like (Drosophila)"	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1061-1G>T	4.37:g.3030927G>T			O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Splice_Site	SNP	-	e12-1	ENST00000398052.4	37	c.1061-1	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643110	0.29246	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6978	0.88286	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRK4	3000725	1.000000	0.71417	0.996000	0.52242	0.118000	0.20060	9.606000	0.98325	2.475000	0.83589	0.643000	0.83706	.	GRK4	-	-	ENSG00000125388		0.338	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	-	0	73	0	G	NM_005307	Intron	3030927	1	tier1	-	no_errors	ENST00000398052	ensembl	human	known	74_37	splice_site	5.56	68	4	SNP	1.000	T	T	3030927	G	T	3030927	5	4	83	1	0	0	0	0	0	0	1	0	6818	985	34	3	1106	3	GRK4	4	3030927	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		3030927	188123349	75	21958											
C4orf50	389197	genome.wustl.edu	37	chr4	5977670	5977670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcatgttgctttttctGaagttcttcaagctgaaata	9	18	7	7	0	4	2	2	2	2	0	4	2	4	2	0	0	3	5	0	0	4	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:5977670G>T	ENST00000324058.5	-	3	270	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	C4orf50_ENST00000531445.1_Missense_Mutation_p.Q535K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	61										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGCTTTTTCTGAAGTTCTTCA	0.413																																																	0													119	112	114					4																	5977670		2203	4300	6503	SO:0001583	missense	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.181C>A	4.37:g.5977670G>T	ENSP00000317287:p.Gln61Lys			Missense_Mutation	SNP	NULL	p.Q535K	ENST00000324058.5	37	c.1603		4	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.610055	0.00835	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.22945	1.93;1.93	3.2	2.24	0.28232	.	0.799636	0.10181	N	0.705820	T	0.16981	0.0408	L	0.46157	1.445	0.09310	N	1	B	0.25312	0.123	B	0.18561	0.022	T	0.37150	-0.9718	10	0.02654	T	1	-4.7835	6.9189	0.24376	0.0:0.0:0.7259:0.2741	.	61	Q6ZRC1	CD050_HUMAN	K	535;61	ENSP00000437121:Q535K;ENSP00000317287:Q61K	ENSP00000317287:Q61K	Q	-	1	0	C4orf50	6028571	0.305000	0.24481	0.005000	0.12908	0.024000	0.10985	1.855000	0.39378	1.810000	0.52873	0.455000	0.32223	CAG	C4orf50	-	NULL	ENSG00000181215		0.413	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		-	0	83	0	G	NM_207405		5977670	-1	tier1	-	no_errors	ENST00000531445	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.002	T	T	5977670	G	T	5977670	3	4	83	1	0	0	0	0	1	0	0	0	2283	1299	45	3	669	3	C4orf50	4	5977670	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2946743	5977670	185176606	76	21959											
STIM2	57620	genome.wustl.edu	37	chr4	27010561	27010561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagtctccattccaccctatCcaattgctggaggagttgat	9	12	9	11	0	1	1	0	1	1	0	4	4	3	3	4	2	1	2	4	2	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:27010561C>G	ENST00000467011.1	+	10	1851	c.1426C>G	c.(1426-1428)Cca>Gca	p.P476A	STIM2_ENST00000412829.2_Missense_Mutation_p.P563A|STIM2_ENST00000382009.3_Missense_Mutation_p.P571A|STIM2_ENST00000237364.5_Missense_Mutation_p.P563A|STIM2_ENST00000465503.1_Missense_Mutation_p.P484A|STIM2_ENST00000467087.1_Missense_Mutation_p.P476A	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	476					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TCCACCCTATCCAATTGCTGG	0.473																																																	0													80	78	78					4																	27010561		2203	4300	6503	SO:0001583	missense	0			AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"Sterile alpha motif (SAM) domain containing"	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1426C>G	4.37:g.27010561C>G	ENSP00000419383:p.Pro476Ala		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM	p.P571A	ENST00000467011.1	37	c.1711	CCDS54752.1	4	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662916	0.47572	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.76839	-1.02;-1.03;-1.03;-1.02;-1.04;-1.01;-1.05;-1.05	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	L	0.43152	1.355	0.58432	D	0.999999	P;P;P;D	0.54601	0.944;0.894;0.944;0.967	B;B;B;P	0.50405	0.437;0.437;0.437;0.64	T	0.72453	-0.4289	10	0.18710	T	0.47	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	476;563;571;563	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	A	476;571;563;476;563;484;184;78	ENSP00000419073:P476A;ENSP00000371439:P571A;ENSP00000237364:P563A;ENSP00000419383:P476A;ENSP00000404812:P563A;ENSP00000417569:P484A;ENSP00000420113:P184A;ENSP00000419536:P78A	ENSP00000237364:P563A	P	+	1	0	STIM2	26619659	0.993000	0.37304	0.994000	0.49952	0.987000	0.75469	3.019000	0.49635	2.941000	0.99782	0.655000	0.94253	CCA	STIM2	-	NULL	ENSG00000109689		0.473	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	STIM2	HGNC	protein_coding	OTTHUMT00000356861.1	-	0	71	0	C	NM_020860		27010561	1	tier1	-	no_errors	ENST00000382009	ensembl	human	known	74_37	missense	39.34	37	24	SNP	1.000	G	G	27010561	C	G	27010561	3	3	83	1	0	0	0	0	1	0	0	0	15331	855	30	5	1492	5	STIM2	4	27010561	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	21032891	27010561	164143715	77	21960											
RFC1	5981	genome.wustl.edu	37	chr4	39329211	39329211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagttccaaaataatcaAgtactgatgtgggtgtaagt	13	13	9	6	0	1	1	1	1	0	0	3	1	3	1	2	1	1	3	2	1	6	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:39329211A>G	ENST00000381897.1	-	5	630	c.497T>C	c.(496-498)cTt>cCt	p.L166P	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_Missense_Mutation_p.L166P	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	166					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAAATAATCAAGTACTGATGT	0.343																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0													150	137	141					4																	39329211		2203	4298	6501	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.497T>C	4.37:g.39329211A>G	ENSP00000371321:p.Leu166Pro		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.L166P	ENST00000381897.1	37	c.497	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	A	21.6	4.167936	0.78339	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.32988	1.43;1.43	5.64	5.64	0.86602	.	0.367232	0.27645	N	0.018444	T	0.52789	0.1756	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.927;0.967	T	0.48055	-0.9068	10	0.30078	T	0.28	-4.1803	14.7395	0.69442	1.0:0.0:0.0:0.0	.	166;166	P35251;P35251-2	RFC1_HUMAN;.	P	166	ENSP00000371321:L166P;ENSP00000261424:L166P	ENSP00000261424:L166P	L	-	2	0	RFC1	39005606	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.042000	0.64202	2.278000	0.76064	0.523000	0.50628	CTT	RFC1	-	superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.343	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	-	0	98	0	A	NM_002913		39329211	-1	tier1	-	no_errors	ENST00000381897	ensembl	human	known	74_37	missense	25.68	55	19	SNP	1.000	G	G	39329211	A	G	39329211	3	3	83	1	0	0	0	0	1	0	0	0	13289	72	3	4	3030	4	RFC1	4	39329211	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	12318650	39329211	151825065	78	21961											
EPHA5	2044	genome.wustl.edu	37	chr4	66230799	66230799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgtcccatgatacttgcTtcacctaggaaatctctgcg	10	12	7	12	1	2	1	1	1	1	0	4	2	3	2	2	1	4	1	2	1	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:66230799T>G	ENST00000273854.3	-	12	2772	c.2172A>C	c.(2170-2172)gaA>gaC	p.E724D	EPHA5_ENST00000432638.2_Missense_Mutation_p.E561D|EPHA5_ENST00000354839.4_Missense_Mutation_p.E702D|EPHA5_ENST00000511294.1_Missense_Mutation_p.E725D	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGATACTTGCTTCACCTAGGA	0.393										TSP Lung(17;0.13)																																							0													235	224	228					4																	66230799		2203	4300	6503	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2172A>C	4.37:g.66230799T>G	ENSP00000273854:p.Glu724Asp		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E724D	ENST00000273854.3	37	c.2172	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016595	0.75161	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000010	D	0.91321	0.7263	H	0.95224	3.64	0.58432	D	0.999994	P;P;P;P	0.48764	0.708;0.915;0.66;0.888	B;P;B;B	0.55545	0.399;0.778;0.278;0.335	D	0.93676	0.6994	10	0.87932	D	0	.	16.0723	0.80943	0.0:0.0:0.0:1.0	.	703;725;702;724	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	D	724;561;702;725	ENSP00000273854:E724D;ENSP00000389208:E561D;ENSP00000346899:E702D;ENSP00000427638:E725D	ENSP00000273854:E724D	E	-	3	2	EPHA5	65913394	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.760000	0.47581	2.199000	0.70637	0.528000	0.53228	GAA	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom	ENSG00000145242		0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	108	0	T	NM_004439		66230799	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	23.81	64	20	SNP	1.000	G	G	66230799	T	G	66230799	3	3	83	1	0	0	0	0	1	0	0	0	5186	1606	56	4	969	4	EPHA5	4	66230799	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	26901588	66230799	124923477	79	21962											
CSN1S1	1446	genome.wustl.edu	37	chr4	70798299	70798299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttctcattctcacctgtcTtgtggctgttgctcttgcca	3	17	8	13	0	4	0	2	0	4	0	6	0	4	0	2	1	2	4	2	1	0	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:70798299T>C	ENST00000246891.4	+	2	75	c.26T>C	c.(25-27)cTt>cCt	p.L9P	CSN1S1_ENST00000444405.3_Missense_Mutation_p.L9P|CSN1S1_ENST00000507763.1_Missense_Mutation_p.L9P|CSN1S1_ENST00000507772.1_Missense_Mutation_p.L9P|CSN1S1_ENST00000505782.1_Missense_Mutation_p.L9P	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	9						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTCACCTGTCTTGTGGCTGTT	0.363																																																	0													55	55	55					4																	70798299		1834	4085	5919	SO:0001583	missense	0			X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.26T>C	4.37:g.70798299T>C	ENSP00000246891:p.Leu9Pro		A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	NULL	p.L9P	ENST00000246891.4	37	c.26	CCDS47067.1	4	.	.	.	.	.	.	.	.	.	.	T	16.58	3.163982	0.57476	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.66638	-0.22;-0.17;-0.17;-0.17;-0.15	5.06	5.06	0.68205	.	0.000000	0.39985	N	0.001219	T	0.78811	0.4342	M	0.67397	2.05	0.09310	N	1.0	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84831	0.0802	9	0.87932	D	0	-15.6299	11.5316	0.50614	0.0:0.0:0.0:1.0	.	9;9;9	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	P	9	ENSP00000246891:L9P;ENSP00000413157:L9P;ENSP00000422611:L9P;ENSP00000427490:L9P;ENSP00000426684:L9P	ENSP00000246891:L9P	L	+	2	0	CSN1S1	70832888	1.000000	0.71417	0.998000	0.56505	0.691000	0.40173	3.378000	0.52432	2.036000	0.60181	0.533000	0.62120	CTT	CSN1S1	-	NULL	ENSG00000126545		0.363	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSN1S1	HGNC	protein_coding	OTTHUMT00000362629.1	-	0	74	0	T			70798299	1	tier1	-	no_errors	ENST00000246891	ensembl	human	known	74_37	missense	20.72	88	23	SNP	0.999	C	C	70798299	T	C	70798299	3	2	83	1	0	0	0	0	1	0	0	0	3956	1609	56	4	28	4	CSN1S1	4	70798299	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	4567500	70798299	120355977	80	21963											
RUFY3	22902	genome.wustl.edu	37	chr4	71650542	71650543	+	Nonsense_Mutation	DNP	GC	GC	CT																															caagacagaactgcagaaggGcaagcactaagtgaagcaag																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:71650542_71650543GC>CT	ENST00000226328.4	+	10	1580_1581	c.1017_1018GC>CT	c.(1015-1020)ggGCaa>ggCTaa	p.Q340*	RUFY3_ENST00000381006.3_Nonsense_Mutation_p.Q340*|RUFY3_ENST00000502653.1_Nonsense_Mutation_p.Q287*|RUFY3_ENST00000417478.2_Nonsense_Mutation_p.Q400*|RUFY3_ENST00000536664.1_Nonsense_Mutation_p.Q324*	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	340					negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)		p.G339G(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CTGCAGAAGGGCAAGCACTAAG	0.322																																																	2	Substitution - coding silent(2)	lung(2)																																								SO:0001587	stop_gained	0			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"Zinc fingers, FYVE domain containing"	30285	protein-coding gene	gene with protein product	"single axon-related 1"	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	Exception_encountered	4.37:g.71650542_71650543delinsCT	ENSP00000226328:p.Gln340*		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Silent|Nonsense_Mutation	SNP	pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run	p.G399|p.Q400*	ENST00000226328.4	37	c.1197|c.1198	CCDS3547.1	4																																																																																			RUFY3	-	NULL	ENSG00000018189		0.322	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	-	0	35|34	0	G|C	NM_014961		71650542|71650543	1	tier1	-	no_errors	ENST00000417478	ensembl	human	known	74_37	silent|nonsense	32.26	21	10	SNP	0.971|1.000	C|T	CT	71650543	GC	CT	71650542	4	2	83	1	0	0	0	0	0	1	0	0	13785	1190	42	5	1417	5	RUFY3	4	71650542	Nonsense_Mutation	DNP	GC	TCGA-L5-A8NI-01A-11D-A37C-09	852243	71650542	119503734	81	21964											
TET2	54790	genome.wustl.edu	37	chr4	106155823	106155823	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagattgtgtttccattgcgGtgcagaaaaccacatctcac	11	11	8	11	1	1	2	1	0	1	2	3	2	2	2	2	1	3	2	2	1	2	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:106155823G>C	ENST00000540549.1	+	3	1584	c.724G>C	c.(724-726)Gtg>Ctg	p.V242L	TET2_ENST00000380013.4_Missense_Mutation_p.V242L|TET2_ENST00000305737.2_Missense_Mutation_p.V242L|TET2_ENST00000513237.1_Missense_Mutation_p.V263L|TET2_ENST00000413648.2_Missense_Mutation_p.V242L|TET2_ENST00000394764.1_Missense_Mutation_p.V242L|TET2_ENST00000545826.1_Missense_Mutation_p.V242L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	242					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCCATTGCGGTGCAGAAAAC	0.443			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													87	82	84					4																	106155823		2203	4300	6503	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.724G>C	4.37:g.106155823G>C	ENSP00000442788:p.Val242Leu		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.V242L	ENST00000540549.1	37	c.724	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701989	0.30232	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03920	3.76;4.41;3.76;4.41;4.41;3.76;3.77	4.95	3.96	0.45880	.	2.164530	0.02866	U	0.130902	T	0.05456	0.0144	L	0.32530	0.975	0.27365	N	0.955849	B;B;P	0.39022	0.278;0.278;0.655	B;B;B	0.34242	0.051;0.051;0.178	T	0.22871	-1.0204	10	0.66056	D	0.02	.	6.5677	0.22521	0.2013:0.0:0.7987:0.0	.	263;242;242	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	L	242;242;242;263;242;242;242;242	ENSP00000306705:V242L;ENSP00000442788:V242L;ENSP00000442867:V242L;ENSP00000425443:V263L;ENSP00000369351:V242L;ENSP00000378245:V242L;ENSP00000391448:V242L	ENSP00000265149:V242L	V	+	1	0	TET2	106375272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.318000	0.43779	2.301000	0.77427	0.655000	0.94253	GTG	TET2	-	NULL	ENSG00000168769		0.443	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2		0	44	0	G	NM_017628		106155823	1			no_errors	ENST00000380013	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	C	C	106155823	G	C	106155823	3	2	83	1	0	0	0	0	1	0	0	0	15817	1261	44	5	726	5	TET2	4	106155823	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	34505281	106155823	84998453	82	21965											
NDST4	64579	genome.wustl.edu	37	chr4	115997920	115997920	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctatgatatcttgaccGagttgagagtattggctctc	10	14	10	7	1	2	3	0	3	2	1	3	5	2	3	1	1	1	4	1	1	4	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:115997920G>T	ENST00000264363.2	-	2	951	c.273C>A	c.(271-273)ctC>ctA	p.L91L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	91	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TATCTTGACCGAGTTGAGAGT	0.438																																																	0													137	150	145					4																	115997920		2203	4300	6503	SO:0001819	synonymous_variant	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"Sulfotransferases, membrane-bound"	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.273C>A	4.37:g.115997920G>T			Q2KHM8	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L91	ENST00000264363.2	37	c.273	CCDS3706.1	4																																																																																			NDST4	-	pfam_Heparan_SO4_deacetylase	ENSG00000138653		0.438	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1		0	57	0	G	NM_022569		115997920	-1			no_errors	ENST00000264363	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.028	T	T	115997920	G	T	115997920	2	4	83	1	0	0	0	0	0	0	0	1	10297	1045	37	2		2	NDST4	4	115997920	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	9842097	115997920	75156356	83	21966											
USP53	54532	genome.wustl.edu	37	chr4	120192515	120192515	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgccccaaatggttttaaAcaacatgggaatccacatct	13	10	6	12	0	1	0	0	0	1	0	2	1	2	1	4	2	3	1	4	2	5	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:120192515A>G	ENST00000274030.6	+	16	2679	c.1500A>G	c.(1498-1500)aaA>aaG	p.K500K	USP53_ENST00000450251.1_Silent_p.K500K	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATGGTTTTAAACAACATGGGA	0.348																																																	0													68	65	66					4																	120192515		1845	4098	5943	SO:0001819	synonymous_variant	0			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"Ubiquitin-specific peptidases"	29255	protein-coding gene	gene with protein product			"ubiquitin specific protease 53"			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1500A>G	4.37:g.120192515A>G				Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.K500	ENST00000274030.6	37	c.1500	CCDS43265.1	4																																																																																			USP53	-	NULL	ENSG00000145390		0.348	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	-	0	35	0	A	XM_052597		120192515	1	tier1	-	no_errors	ENST00000274030	ensembl	human	known	74_37	silent	21.62	29	8	SNP	0.009	G	G	120192515	A	G	120192515	2	3	83	1	0	0	0	0	0	0	0	1	17133	40	2	4		4	USP53	4	120192515	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	4194595	120192515	70961761	84	21967											
TBC1D9	23158	genome.wustl.edu	37	chr4	141600856	141600856	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaccttccccttccaatAgctgcaagagtaatagttga	11	10	10	10	0	0	2	0	1	0	1	2	3	2	3	4	2	2	4	4	2	5	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:141600856A>T	ENST00000442267.2	-	4	576	c.502T>A	c.(502-504)Tat>Aat	p.Y168N		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	168	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCCTTCCAATAGCTGCAAGAG	0.433																																																	0													80	79	79					4																	141600856		1854	4088	5942	SO:0001583	missense	0			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"EF-hand domain containing"	21710	protein-coding gene	gene with protein product			"TBC1 domain family, member 9"			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.502T>A	4.37:g.141600856A>T	ENSP00000411197:p.Tyr168Asn		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.Y168N	ENST00000442267.2	37	c.502	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564376	0.86335	.	.	ENSG00000109436	ENST00000442267	D	0.87256	-2.23	5.41	5.41	0.78517	GRAM (2);	0.000000	0.85682	D	0.000000	D	0.94046	0.8092	M	0.87758	2.905	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.94873	0.8032	10	0.66056	D	0.02	.	15.4549	0.75305	1.0:0.0:0.0:0.0	.	168	Q6ZT07	TBCD9_HUMAN	N	168	ENSP00000411197:Y168N	ENSP00000411197:Y168N	Y	-	1	0	TBC1D9	141820306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.210000	0.95106	2.061000	0.61500	0.533000	0.62120	TAT	TBC1D9	-	pfam_GRAM,smart_GRAM	ENSG00000109436		0.433	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	HGNC	protein_coding	OTTHUMT00000364806.1	-	0	67	0	A	NM_015130		141600856	-1	tier1	-	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	T	T	141600856	A	T	141600856	3	4	83	1	0	0	0	0	1	0	0	0	15674	420	15	5	3370	5	TBC1D9	4	141600856	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	21408341	141600856	49553420	85	21968											
FBXW7	55294	genome.wustl.edu	37	chr4	153244238	153244238	+	Frame_Shift_Del	DEL	C	C	-																															ttacagttccatcatctgagCtggtaattacaaagttcttg																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:153244238delC	ENST00000281708.4	-	12	3148	c.1919delG	c.(1918-1920)agcfs	p.S641fs	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.S641fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.S641fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.S465fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.S523fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.S561fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	641					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCATCTGAGCTGGTAATTAC	0.418			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											108	105	106					4																	153244238		2203	4300	6503	SO:0001589	frameshift_variant	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1919delG	4.37:g.153244238delC	ENSP00000281708:p.Ser641fs		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S640fs	ENST00000281708.4	37	c.1919	CCDS3777.1	4																																																																																			FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000109670		0.418	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0	75	0	C			153244238	-1	tier1		no_errors	ENST00000281708	ensembl	human	known	74_37	frame_shift_del	37.21	27	16	DEL	1.000	-	-	153244238	C	-	153244238	7	5	83	1	0	1	0	1	0	0	0	0	5791	797	28	0	208	0	FBXW7	4	153244238	Frame_Shift_Del	DEL	C	TCGA-L5-A8NI-01A-11D-A37C-09	11643382	153244238	37910038	86	21969											
FAT1	2195	genome.wustl.edu	37	chr4	187628224	187628224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggtgggttgtcattaaCatcttctagtgatactttca	9	17	9	6	0	4	1	2	1	2	0	4	1	4	1	0	2	2	2	0	2	4	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr4:187628224C>T	ENST00000441802.2	-	2	2967	c.2758G>A	c.(2758-2760)Gtt>Att	p.V920I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	920	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGTCATTAACATCTTCTAGT	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													224	219	220					4																	187628224		1958	4157	6115	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2758G>A	4.37:g.187628224C>T	ENSP00000406229:p.Val920Ile			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.V920I	ENST00000441802.2	37	c.2758	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189480	0.78789	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.73789	-0.78	4.67	4.67	0.58626	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81024	0.4737	L	0.39898	1.24	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	T	0.78833	-0.2048	10	0.33141	T	0.24	.	18.1062	0.89520	0.0:1.0:0.0:0.0	.	920	Q14517	FAT1_HUMAN	I	920	ENSP00000406229:V920I	ENSP00000260147:V920I	V	-	1	0	FAT1	187865218	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.900000	0.56295	2.579000	0.87056	0.491000	0.48974	GTT	FAT1	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000083857		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	-	0	33	0	C	NM_005245		187628224	-1	tier1	-	no_errors	ENST00000441802	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	T	T	187628224	C	T	187628224	3	4	83	1	0	0	0	0	1	0	0	0	5711	478	17	3	11112	3	FAT1	4	187628224	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	34383986	187628224	3526052	87	21970											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5303454	5303454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccgccccgtgcagtgcAcacggcgggtgcactatgac	8	5	14	14	4	0	2	0	1	0	1	0	2	0	2	3	2	4	3	3	2	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:5303454A>G	ENST00000274181.7	+	19	3001	c.2863A>G	c.(2863-2865)Aca>Gca	p.T955A		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	955	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGTGCAGTGCACACGGCGGGT	0.692																																																	0													11	15	14					5																	5303454		2022	4154	6176	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2863A>G	5.37:g.5303454A>G	ENSP00000274181:p.Thr955Ala		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T955A	ENST00000274181.7	37	c.2863	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	A	2.783	-0.253059	0.05829	.	.	ENSG00000145536	ENST00000274181	T	0.50548	0.74	4.97	1.0	0.19881	.	0.408897	0.24226	N	0.040400	T	0.32041	0.0816	L	0.41027	1.25	0.09310	N	0.999995	B;B	0.27951	0.194;0.195	B;B	0.25614	0.036;0.062	T	0.13388	-1.0511	10	0.33141	T	0.24	.	6.2824	0.21015	0.6123:0.3043:0.0834:0.0	.	955;955	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	A	955	ENSP00000274181:T955A	ENSP00000274181:T955A	T	+	1	0	ADAMTS16	5356454	0.001000	0.12720	0.073000	0.20177	0.045000	0.14185	0.180000	0.16860	0.000000	0.14550	0.528000	0.53228	ACA	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145536		0.692	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	40	0	A	NM_139056		5303454	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	missense	50.00	18	18	SNP	0.020	G	G	5303454	A	G	5303454	3	3	83	1	0	0	0	0	1	0	0	0	261	159	6	4	2937	4	ADAMTS16	5	5303454	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09		5303454	175611806	88	21971											
PTGER4	5734	genome.wustl.edu	37	chr5	40681181	40681182	+	Missense_Mutation	DNP	TC	TC	GA																															catcccggcggtgatgttcaTcttcggggtggtgggcaacc																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:40681181_40681182TC>GA	ENST00000302472.3	+	2	1110_1111	c.86_87TC>GA	c.(85-87)aTC>aGA	p.I29R	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	29					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GTGATGTTCATCTTCGGGGTGG	0.629											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"GPCR / Class A : Prostanoid receptors"	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	Exception_encountered	5.37:g.40681181_40681182delinsGA	ENSP00000302846:p.Ile29Arg	895	Q3MJ87	Missense_Mutation|Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.I29S|p.I29	ENST00000302472.3	37	c.86|c.87	CCDS3930.1	5																																																																																			PTGER4	-	pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	ENSG00000171522		0.629	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	-	0	58|57	0	T|C	NM_000958		40681181|40681182	1	tier1	-	no_errors	ENST00000302472	ensembl	human	known	74_37	missense|silent	34.00	33	17	SNP	1.000	G|A	GA	40681182	TC	GA	40681181	3	3	83	1	0	0	0	0	1	0	0	0	12788	1435	50	4	88	4	PTGER4	5	40681181	Missense_Mutation	DNP	TC	TCGA-L5-A8NI-01A-11D-A37C-09	35377727	40681181	140234079	89	21972											
C7	730	genome.wustl.edu	37	chr5	40934522	40934522	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgaacctacaagaggAtgtccaacagaggagggatg	13	7	13	8	0	0	3	0	1	0	2	2	6	2	6	3	3	3	0	3	3	4	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:40934522A>C	ENST00000313164.9	+	4	593	c.234A>C	c.(232-234)ggA>ggC	p.G78G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	78	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CTACAAGAGGATGTCCAACAG	0.463																																																	0													216	221	219					5																	40934522		1965	4168	6133	SO:0001819	synonymous_variant	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.234A>C	5.37:g.40934522A>C			Q6P3T5|Q92489	Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.G78	ENST00000313164.9	37	c.234	CCDS47201.1	5																																																																																			C7	-	pfam_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000112936		0.463	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	-	0	82	0	A			40934522	1	tier1	-	no_errors	ENST00000313164	ensembl	human	known	74_37	silent	25.61	59	21	SNP	0.942	C	C	40934522	A	C	40934522	2	2	83	1	0	0	0	0	0	0	0	1	2382	320	12	4		4	C7	5	40934522	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	253341	40934522	139980738	90	21973											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41052670	41052670	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatggtttggatgaggAgaagaacagaatttcttacc	14	10	10	7	0	1	4	0	1	1	3	1	6	1	5	1	3	2	1	1	3	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:41052670A>G	ENST00000399564.4	-	12	1577	c.1127T>C	c.(1126-1128)cTc>cCc	p.L376P	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	376																	TTGGATGAGGAGAAGAACAGA	0.358																																																	0													71	64	66					5																	41052670		1848	4093	5941	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1127T>C	5.37:g.41052670A>G	ENSP00000382476:p.Leu376Pro		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L376P	ENST00000399564.4	37	c.1127	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070526	0.55539	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.68903	-0.36	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.47455	D	0.000233	T	0.77798	0.4184	L	0.56769	1.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.77900	-0.2415	10	0.46703	T	0.11	.	12.5167	0.56036	1.0:0.0:0.0:0.0	.	376	Q7Z745	HTRB2_HUMAN	P	80;376	ENSP00000382476:L376P	ENSP00000296803:L80P	L	-	2	0	HEATR7B2	41088427	0.980000	0.34600	0.997000	0.53966	0.714000	0.41099	2.688000	0.46984	2.208000	0.71279	0.533000	0.62120	CTC	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.358	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	60	0	A	NM_173489		41052670	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	G	G	41052670	A	G	41052670	3	3	83	1	0	0	0	0	1	0	0	0	7062	304	11	4	3754	4	HEATR7B2	5	41052670	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	118148	41052670	139862590	91	21974											
RASGRF2	5924	genome.wustl.edu	37	chr5	80366374	80366374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagcaaccaagaagacgaaGatccagacatcaagaagatt	21	4	8	8	1	1	6	1	0	0	6	2	7	2	6	2	0	2	1	2	0	7	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:80366374G>C	ENST00000265080.4	+	4	674	c.607G>C	c.(607-609)Gat>Cat	p.D203H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	203					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGAAGACGAAGATCCAGACAT	0.433																																																	0													142	143	143					5																	80366374		2203	4300	6503	SO:0001583	missense	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.607G>C	5.37:g.80366374G>C	ENSP00000265080:p.Asp203His		B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D203H	ENST00000265080.4	37	c.607	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923178	0.92319	.	.	ENSG00000113319	ENST00000265080	T	0.76578	-1.03	5.69	5.69	0.88448	.	0.044848	0.85682	D	0.000000	D	0.85470	0.5704	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72075	0.976;0.946	D	0.84857	0.0817	10	0.54805	T	0.06	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	203;203	D6RAS9;O14827	.;RGRF2_HUMAN	H	203	ENSP00000265080:D203H	ENSP00000265080:D203H	D	+	1	0	RASGRF2	80402130	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.966000	0.87956	2.840000	0.97914	0.655000	0.94253	GAT	RASGRF2	-	NULL	ENSG00000113319		0.433	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	-	0	61	0	G	NM_006909		80366374	1	tier1	-	no_errors	ENST00000265080	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	C	C	80366374	G	C	80366374	3	2	83	1	0	0	0	0	1	0	0	0	13118	942	33	5	621	5	RASGRF2	5	80366374	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	39313704	80366374	100548886	92	21975											
GPR98	84059	genome.wustl.edu	37	chr5	90106393	90106393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggggattacaaaagtttGatgttaattggagcccacgc	12	12	11	6	1	0	1	0	1	0	0	0	3	0	3	1	3	2	2	1	3	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:90106393G>A	ENST00000405460.2	+	74	15412	c.15316G>A	c.(15316-15318)Gat>Aat	p.D5106N	GPR98_ENST00000425867.2_Missense_Mutation_p.D767N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5106					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAAAAGTTTGATGTTAATTG	0.343																																																	0													116	116	116					5																	90106393		1835	4085	5920	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15316G>A	5.37:g.90106393G>A	ENSP00000384582:p.Asp5106Asn		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D5106N	ENST00000405460.2	37	c.15316	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	4.772	0.143619	0.09134	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35605	1.3;1.3	5.37	3.45	0.39498	.	0.658584	0.17407	N	0.175330	T	0.28466	0.0704	L	0.50333	1.59	0.09310	N	1	B;B;B	0.34015	0.309;0.002;0.435	B;B;B	0.30572	0.055;0.002;0.117	T	0.12319	-1.0552	9	.	.	.	.	7.4986	0.27505	0.1742:0.1348:0.691:0.0	.	767;5106;767	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	5106;5106;767	ENSP00000384582:D5106N;ENSP00000392618:D767N	.	D	+	1	0	GPR98	90142149	0.948000	0.32251	0.006000	0.13384	0.212000	0.24457	2.151000	0.42263	0.640000	0.30582	0.563000	0.77884	GAT	GPR98	-	NULL	ENSG00000164199		0.343	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	33	0	G	NM_032119		90106393	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	27.03	27	10	SNP	0.012	A	A	90106393	G	A	90106393	3	1	83	1	0	0	0	0	1	0	0	0	6748	1290	45	3	15610	3	GPR98	5	90106393	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	9740019	90106393	90808867	93	21976											
TRIM36	55521	genome.wustl.edu	37	chr5	114469750	114469750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgatattcaagaacataGctatcagctttatccttttc	11	16	4	10	1	2	1	2	0	0	1	5	2	4	1	2	0	3	2	2	0	6	9			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:114469750G>T	ENST00000282369.3	-	8	1462	c.1341C>A	c.(1339-1341)agC>agA	p.S447R	TRIM36_ENST00000514154.1_Missense_Mutation_p.S292R|TRIM36_ENST00000513154.1_Missense_Mutation_p.S435R	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	447	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CAAGAACATAGCTATCAGCTT	0.358																																																	0													124	115	118					5																	114469750		2202	4300	6502	SO:0001583	missense	0			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16280	protein-coding gene	gene with protein product	"zinc-binding protein Rbcc728", "tripartite motif protein 36", "RING finger protein 98"	609317	"tripartite motif-containing 36"			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1341C>A	5.37:g.114469750G>T	ENSP00000282369:p.Ser447Arg		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S447R	ENST00000282369.3	37	c.1341	CCDS4115.1	5	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637599	0.29157	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000514154	T;T;T	0.57273	0.41;0.41;0.41	5.63	3.6	0.41247	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.472746	0.24681	N	0.036478	T	0.38268	0.1034	L	0.34521	1.04	0.80722	D	1	B;B	0.14012	0.007;0.009	B;B	0.17979	0.01;0.02	T	0.20571	-1.0271	10	0.35671	T	0.21	.	7.8849	0.29644	0.1851:0.2019:0.613:0.0	.	435;447	E9PFI8;Q9NQ86	.;TRI36_HUMAN	R	447;435;292	ENSP00000282369:S447R;ENSP00000423934:S435R;ENSP00000424259:S292R	ENSP00000282369:S447R	S	-	3	2	TRIM36	114497649	0.996000	0.38824	1.000000	0.80357	0.966000	0.64601	0.533000	0.23082	1.385000	0.46445	0.655000	0.94253	AGC	TRIM36	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000152503		0.358	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	-	0	36	0	G	NM_018700		114469750	-1	tier1	-	no_errors	ENST00000282369	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.999	T	T	114469750	G	T	114469750	3	4	83	1	0	0	0	0	1	0	0	0	16558	962	34	3	857	3	TRIM36	5	114469750	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	24363357	114469750	66445510	94	21977											
PCDHAC1	56135	genome.wustl.edu	37	chr5	140307982	140307982	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttgctggcagtggaatCatccagtggggccatcactg	8	10	13	10	0	2	0	2	0	0	0	3	1	3	1	2	4	2	3	2	4	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:140307982C>A	ENST00000253807.2	+	1	1505	c.1505C>A	c.(1504-1506)tCa>tAa	p.S502*	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.S502*|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTGGAATCATCCAGTGGG	0.542																																																	0													70	76	74					5																	140307982		2203	4300	6503	SO:0001587	stop_gained	0			AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"Cadherins / Protocadherins : Clustered"	8676	other	complex locus constituent	"PCDH-ALPHA-C1"	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1505C>A	5.37:g.140307982C>A	ENSP00000253807:p.Ser502*		Q9Y5F5|Q9Y5I5	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S502*	ENST00000253807.2	37	c.1505	CCDS4241.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594072	0.86953	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	.	.	.	5.49	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2717	0.43487	0.0:0.7831:0.1376:0.0793	.	.	.	.	X	502	.	ENSP00000253807:S502X	S	+	2	0	PCDHAC1	140288166	0.011000	0.17503	0.847000	0.33407	0.992000	0.81027	2.539000	0.45718	2.566000	0.86566	0.563000	0.77884	TCA	PCDHAC1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000248383		0.542	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHAC1	HGNC	protein_coding	OTTHUMT00000251798.1	-	0	46	0	C	NM_018898		140307982	1	tier1	-	no_errors	ENST00000253807	ensembl	human	known	74_37	nonsense	25.49	38	13	SNP	0.082	A	A	140307982	C	A	140307982	4	1	83	1	0	0	0	0	0	1	0	0	11571	838	29	3	1507	3	PCDHAC1	5	140307982	Nonsense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	25838232	140307982	40607278	95	21978											
PCDHB3	56132	genome.wustl.edu	37	chr5	140480810	140480810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggacggaaggaagtacccgGaactagtactggataaagcg	14	5	15	7	3	0	0	0	0	0	0	0	5	0	5	1	5	4	2	1	5	8	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:140480810G>A	ENST00000231130.2	+	1	577	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAGTACCCGGAACTAGTACT	0.577																																																	0													75	73	74					5																	140480810		2203	4300	6503	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.577G>A	5.37:g.140480810G>A	ENSP00000231130:p.Glu193Lys		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E193K	ENST00000231130.2	37	c.577	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676620	0.67928	.	.	ENSG00000113205	ENST00000231130	T	0.21932	1.98	5.08	4.2	0.49525	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48314	0.1493	M	0.79805	2.47	0.40116	D	0.976542	D	0.67145	0.996	D	0.70016	0.967	T	0.58521	-0.7622	9	0.87932	D	0	.	15.4478	0.75243	0.0:0.1397:0.8603:0.0	.	193	Q9Y5E6	PCDB3_HUMAN	K	193	ENSP00000231130:E193K	ENSP00000231130:E193K	E	+	1	0	PCDHB3	140460994	1.000000	0.71417	0.330000	0.25442	0.401000	0.30781	6.645000	0.74343	1.240000	0.43803	0.655000	0.94253	GAA	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.577	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	43	0	G	NM_018937		140480810	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.984	A	A	140480810	G	A	140480810	3	1	83	1	0	0	0	0	1	0	0	0	11582	1175	41	3	579	3	PCDHB3	5	140480810	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	172828	140480810	40434450	96	21979											
PCDHGA11	56105	genome.wustl.edu	37	chr5	140802465	140802465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttcgtgctggaccagaaCgacaatgcgcccgagatcct	9	8	11	13	4	0	2	0	0	0	2	2	5	1	3	3	1	3	2	3	1	2	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:140802465C>T	ENST00000398587.2	+	1	1704	c.1671C>T	c.(1669-1671)aaC>aaT	p.N557N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Silent_p.N557N|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	557	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAATGCGC	0.632																																																	0													158	178	171					5																	140802465		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"Cadherins / Protocadherins : Clustered"	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1671C>T	5.37:g.140802465C>T			B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N557	ENST00000398587.2	37	c.1671	CCDS47294.1	5																																																																																			PCDHGA11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000253873		0.632	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	-	0	113	0	C	NM_018914		140802465	1	tier1	-	no_errors	ENST00000398587	ensembl	human	known	74_37	silent	22.68	75	22	SNP	0.950	T	T	140802465	C	T	140802465	2	4	83	1	0	0	0	0	0	0	0	1	11591	535	19	1		1	PCDHGA11	5	140802465	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	321655	140802465	40112795	97	21980											
FCHSD1	89848	genome.wustl.edu	37	chr5	141024481	141024481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagccactcaccctccGtgattgtcagctcatcctca	7	10	5	19	1	4	1	4	1	0	0	7	1	7	1	6	0	2	1	6	0	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:141024481G>A	ENST00000435817.2	-	15	1519	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.T416M	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	490	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCCTCCGTGATTGTCAG	0.617																																																	0													49	57	54					5																	141024481		2126	4231	6357	SO:0001583	missense	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1469C>T	5.37:g.141024481G>A	ENSP00000399259:p.Thr490Met		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.T490M	ENST00000435817.2	37	c.1469	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929149	0.34096	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.48836	0.8;0.8;0.8	5.54	1.69	0.24217	Src homology-3 domain (4);	0.218607	0.36815	N	0.002396	T	0.37489	0.1005	L	0.54908	1.71	0.80722	D	1	B;B	0.29805	0.239;0.257	B;B	0.29598	0.023;0.104	T	0.10636	-1.0621	10	0.48119	T	0.1	-9.6222	5.6517	0.17620	0.2829:0.0:0.5797:0.1374	.	170;490	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	M	490;416;173	ENSP00000399259:T490M;ENSP00000428677:T416M;ENSP00000430448:T173M	ENSP00000399259:T490M	T	-	2	0	FCHSD1	141004665	0.192000	0.23301	0.994000	0.49952	0.979000	0.70002	0.728000	0.26013	0.024000	0.15214	-0.448000	0.05591	ACG	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000197948		0.617	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	-	0	64	0	G	NM_033449		141024481	-1	tier1	-	no_errors	ENST00000435817	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.969	A	A	141024481	G	A	141024481	3	1	83	1	0	0	0	0	1	0	0	0	5811	1145	40	1	627	1	FCHSD1	5	141024481	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	222016	141024481	39890779	98	21981											
PCDH1	5097	genome.wustl.edu	37	chr5	141242988	141242988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggcagtggggagttagagcGatagtggcggcccaggtcag	9	6	19	7	2	1	1	1	0	0	1	1	3	1	2	1	6	1	2	1	6	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:141242988G>C	ENST00000394536.3	-	3	3047	c.2908C>G	c.(2908-2910)Cgc>Ggc	p.R970G	PCDH1_ENST00000536585.1_Missense_Mutation_p.R948G|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.R958G|PCDH1_ENST00000287008.3_Missense_Mutation_p.R970G	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	970					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GAGTTAGAGCGATAGTGGCGG	0.617																																					Ovarian(132;1609 1739 4190 14731 45037)												0													52	47	48					5																	141242988		2203	4299	6502	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2908C>G	5.37:g.141242988G>C	ENSP00000378043:p.Arg970Gly		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R970G	ENST00000394536.3	37	c.2908	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	g	16.15	3.040284	0.55003	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.59	4.59	0.56863	Protocadherin (1);	0.000000	0.49916	D	0.000122	T	0.57007	0.2024	M	0.67953	2.075	0.80722	D	1	D;D	0.65815	0.995;0.994	D;D	0.69142	0.962;0.937	T	0.61422	-0.7066	10	0.87932	D	0	.	14.9325	0.70926	0.0:0.0:1.0:0.0	.	970;970	Q08174;Q08174-2	PCDH1_HUMAN;.	G	970;970;958;981;948	ENSP00000287008:R970G;ENSP00000378043:R970G;ENSP00000403497:R958G;ENSP00000350122:R981G;ENSP00000438825:R948G	ENSP00000287008:R970G	R	-	1	0	PCDH1	141223172	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.592000	0.53993	2.386000	0.81285	0.457000	0.33378	CGC	PCDH1	-	pfam_Protocadherin	ENSG00000156453		0.617	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	-	0	59	0	G	NM_032420		141242988	-1	tier1	-	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	C	C	141242988	G	C	141242988	3	2	83	1	0	0	0	0	1	0	0	0	11545	1058	37	5	901	5	PCDH1	5	141242988	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	218507	141242988	39672272	99	21982											
SLU7	10569	genome.wustl.edu	37	chr5	159834513	159834513	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctttctttctgctgttcTttgaaatcttcttttttgac	5	23	5	8	0	5	2	0	2	5	0	5	2	5	2	0	0	2	3	0	0	1	8			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:159834513T>C	ENST00000297151.4	-	11	1482	c.1095A>G	c.(1093-1095)aaA>aaG	p.K365K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	365					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGCTGTTCTTTGAAATCTT	0.368																																																	0													158	148	151					5																	159834513		2203	4300	6503	SO:0001819	synonymous_variant	0			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.1095A>G	5.37:g.159834513T>C			D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Silent	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.K365	ENST00000297151.4	37	c.1095	CCDS4352.1	5																																																																																			SLU7	-	pfam_Slu7	ENSG00000164609		0.368	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	-	0	50	0	T	NM_006425		159834513	-1	tier1	-	no_errors	ENST00000297151	ensembl	human	known	74_37	silent	35.42	31	17	SNP	0.999	C	C	159834513	T	C	159834513	2	2	83	1	0	0	0	0	0	0	0	1	14800	1606	56	4		4	SLU7	5	159834513	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	18591525	159834513	21080747	100	21983											
ATP10B	23120	genome.wustl.edu	37	chr5	160115050	160115050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgactctccactgccacCgatgccacgatgagtccact	8	9	7	17	2	2	2	0	2	2	0	4	4	3	2	5	0	2	0	5	0	0	0	rs369383733		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:160115050C>T	ENST00000327245.5	-	5	878	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	11					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTGCCACCGATGCCACGA	0.537																																																	0								C	GLN/ARG	0,4254		0,0,2127	59	61	61		32	4.6	1	5		61	1,8489		0,1,4244	no	missense	ATP10B	NM_025153.2	43	0,1,6371	TT,TC,CC		0.0118,0.0,0.0078	benign	11/1462	160115050	1,12743	2127	4245	6372	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.32G>A	5.37:g.160115050C>T	ENSP00000313600:p.Arg11Gln		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R11Q	ENST00000327245.5	37	c.32	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669898	0.67814	0.0	1.18E-4	ENSG00000118322	ENST00000327245	T	0.52526	0.66	5.5	4.64	0.57946	.	0.000000	0.52532	D	0.000071	T	0.41328	0.1154	M	0.64404	1.975	0.33485	D	0.587954	P;P;B	0.46987	0.888;0.865;0.272	B;B;B	0.34652	0.187;0.129;0.012	T	0.60296	-0.7291	9	.	.	.	.	13.3798	0.60761	0.0:0.9249:0.0:0.0751	.	55;11;11	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	Q	11	ENSP00000313600:R11Q	.	R	-	2	0	ATP10B	160047628	0.440000	0.25618	0.969000	0.41365	0.199000	0.23934	2.747000	0.47475	1.332000	0.45431	-0.251000	0.11542	CGG	ATP10B	-	NULL	ENSG00000118322		0.537	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1		0	49	0	C	NM_025153		160115050	-1			no_errors	ENST00000327245	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.971	T	T	160115050	C	T	160115050	3	4	83	1	0	0	0	0	1	0	0	0	1118	652	23	1	4441	1	ATP10B	5	160115050	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	280537	160115050	20800210	101	21984											
DRD1	1812	genome.wustl.edu	37	chr5	174869480	174869480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtaggtgacaatcatgatgGccacagggatgtaaaagctt	13	10	12	6	0	1	2	1	2	0	0	1	3	1	3	1	3	1	3	1	3	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr5:174869480G>A	ENST00000393752.2	-	2	1615	c.623C>T	c.(622-624)gCc>gTc	p.A208V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	208					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AATCATGATGGCCACAGGGAT	0.507																																																	0													161	153	156					5																	174869480		2203	4300	6503	SO:0001583	missense	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.623C>T	5.37:g.174869480G>A	ENSP00000377353:p.Ala208Val		B2RA44|Q4QRJ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.A208V	ENST00000393752.2	37	c.623	CCDS4393.1	5	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792901	0.31685	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.35421	1.31	5.54	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.047858	0.85682	N	0.000000	T	0.22475	0.0542	N	0.17838	0.53	0.80722	D	1	B	0.31893	0.345	B	0.37346	0.247	T	0.04509	-1.0946	10	0.02654	T	1	.	11.3574	0.49623	0.1461:0.0:0.8539:0.0	.	208	P21728	DRD1_HUMAN	V	208	ENSP00000377353:A208V	ENSP00000327652:A208V	A	-	2	0	DRD1	174802086	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.628000	0.74262	0.832000	0.34804	0.650000	0.86243	GCC	DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184845		0.507	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	-	0	63	0	G	NM_000794		174869480	-1	tier1	-	no_errors	ENST00000393752	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	A	A	174869480	G	A	174869480	3	1	83	1	0	0	0	0	1	0	0	0	4770	1203	42	3	721	3	DRD1	5	174869480	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	14754430	174869480	6045780	102	21985											
GMPR	2766	genome.wustl.edu	37	chr6	16290814	16290814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgggatgagctctgacacCgccatgaacaagcacgcagg	12	5	12	12	3	1	3	0	3	1	0	1	4	1	4	2	2	4	3	2	2	3	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:16290814C>T	ENST00000259727.4	+	8	933	c.819C>T	c.(817-819)acC>acT	p.T273T	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	273					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to cold (GO:0009409)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GCTCTGACACCGCCATGAACA	0.577																																																	0													149	135	140					6																	16290814		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4537.1	6p23	2009-07-10			ENSG00000137198	ENSG00000137198	1.7.1.7		4376	protein-coding gene	gene with protein product		139265				2194676	Standard	NM_006877		Approved		uc003nbs.3	P36959	OTTHUMG00000014302	ENST00000259727.4:c.819C>T	6.37:g.16290814C>T			Q96HQ6	Silent	SNP	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	p.T273	ENST00000259727.4	37	c.819	CCDS4537.1	6																																																																																			GMPR	-	pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1	ENSG00000137198		0.577	GMPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPR	HGNC	protein_coding	OTTHUMT00000039942.2	-	0	53	0	C			16290814	1	tier1	-	no_errors	ENST00000259727	ensembl	human	known	74_37	silent	40.00	17	12	SNP	0.214	T	T	16290814	C	T	16290814	2	4	83	1	0	0	0	0	0	0	0	1	6522	639	23	1		1	GMPR	6	16290814	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09		16290814	154824253	103	21986											
NUP153	9972	genome.wustl.edu	37	chr6	17626152	17626152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtacctgtgctggatGtggttgctagtttgctatct	5	16	12	8	0	1	0	0	0	1	0	1	1	1	1	1	2	5	7	1	2	3	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:17626152G>T	ENST00000262077.2	-	19	3787	c.3788C>A	c.(3787-3789)aCa>aAa	p.T1263K	NUP153_ENST00000537253.1_Missense_Mutation_p.T1294K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1263					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGTGCTGGATGTGGTTGCTAG	0.493																																																	0													111	96	101					6																	17626152		2203	4300	6503	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3788C>A	6.37:g.17626152G>T	ENSP00000262077:p.Thr1263Lys		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.T1294K	ENST00000262077.2	37	c.3881	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705510	0.89018	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.09255	3.01;3.0	5.87	5.87	0.94306	.	0.000000	0.48286	D	0.000193	T	0.19248	0.0462	L	0.57536	1.79	0.44611	D	0.997584	D;P;P	0.58268	0.982;0.704;0.651	P;B;B	0.58331	0.837;0.277;0.216	T	0.00195	-1.1932	10	0.38643	T	0.18	-2.2027	20.2181	0.98305	0.0:0.0:1.0:0.0	.	1294;1243;1263	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	K	1263;1243;1294	ENSP00000262077:T1263K;ENSP00000444029:T1294K	ENSP00000262077:T1263K	T	-	2	0	NUP153	17734131	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.652000	0.74377	2.785000	0.95823	0.655000	0.94253	ACA	NUP153	-	NULL	ENSG00000124789		0.493	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	54	0	G			17626152	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.999	T	T	17626152	G	T	17626152	3	4	83	1	0	0	0	0	1	0	0	0	10794	1377	48	3	655	3	NUP153	6	17626152	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1335338	17626152	153488915	104	21987											
EHMT2	10919	genome.wustl.edu	37	chr6	31855704	31855704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccaggggatcgcagggcgGgcgccggggttccccatgcc	5	4	18	14	4	0	0	0	0	0	0	2	1	1	1	5	6	2	2	5	6	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:31855704G>T	ENST00000375537.4	-	14	1786	c.1780C>A	c.(1780-1782)Ccg>Acg	p.P594T	EHMT2_ENST00000375530.4_Missense_Mutation_p.P560T|EHMT2_ENST00000395728.3_Missense_Mutation_p.P651T|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P617T	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	594					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCGCAGGGCGGGCGCCGGGGT	0.667																																																	0													23	29	27					6																	31855704		1507	2703	4210	SO:0001583	missense	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1780C>A	6.37:g.31855704G>T	ENSP00000364687:p.Pro594Thr		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.P651T	ENST00000375537.4	37	c.1951	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779591	0.31502	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70399	-0.48;-0.39;-0.34;-0.47	5.56	3.71	0.42584	.	0.072630	0.56097	N	0.000040	T	0.41050	0.1142	N	0.24115	0.695	0.35031	D	0.758822	B;P;P;B	0.41313	0.302;0.745;0.498;0.069	B;P;B;B	0.47376	0.213;0.545;0.244;0.024	T	0.33394	-0.9870	10	0.21540	T	0.41	.	4.4258	0.11501	0.0834:0.1569:0.5971:0.1626	.	617;560;594;408	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	T	651;617;560;594;408	ENSP00000379078:P651T;ENSP00000364678:P617T;ENSP00000364680:P560T;ENSP00000364687:P594T	ENSP00000364678:P617T	P	-	1	0	EHMT2	31963683	0.189000	0.23263	0.937000	0.37676	0.731000	0.41821	1.004000	0.29822	0.639000	0.30564	0.555000	0.69702	CCG	EHMT2	-	NULL	ENSG00000204371		0.667	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	-	0	48	0	G	NM_006709		31855704	-1	tier1	-	no_errors	ENST00000395728	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.916	T	T	31855704	G	T	31855704	3	4	83	1	0	0	0	0	1	0	0	0	4998	1232	43	3	1912	3	EHMT2	6	31855704	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	14229552	31855704	139259363	105	21988											
MLN	4295	genome.wustl.edu	37	chr6	33766970	33766970	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgccatacactcagggatTtcttttgccctttattccgt	6	17	6	12	1	3	0	1	0	2	0	4	1	4	1	3	1	3	0	3	1	2	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:33766970T>G	ENST00000430124.2	-	3	211	c.146A>C	c.(145-147)aAa>aCa	p.K49T	MLN_ENST00000507738.1_Missense_Mutation_p.K49T|MLN_ENST00000266003.5_Missense_Mutation_p.K49T	NM_001040109.1|NM_001184698.1|NM_002418.2	NP_001035198.1|NP_001171627.1|NP_002409.1	P12872	MOTI_HUMAN	motilin	49					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)	receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ACTCAGGGATTTCTTTTGCCC	0.527																																																	0													163	136	145					6																	33766970		2203	4300	6503	SO:0001583	missense	0				CCDS4786.1, CCDS47412.1, CCDS54993.1	6p21.31	2014-01-30			ENSG00000096395	ENSG00000096395		"Endogenous ligands"	7141	protein-coding gene	gene with protein product	"prepromotilin"	158270					Standard	NM_001184698		Approved		uc003off.1	P12872	OTTHUMG00000014536	ENST00000430124.2:c.146A>C	6.37:g.33766970T>G	ENSP00000388825:p.Lys49Thr		B7ZLR7|E9PDN2|J3KN51|Q2M1L2|Q5T975|Q6NSY7	Missense_Mutation	SNP	pfam_Motilin_assoc,pfam_Motilin_ghrelin	p.K49T	ENST00000430124.2	37	c.146	CCDS4786.1	6	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849654	0.71603	.	.	ENSG00000096395	ENST00000430124;ENST00000266003;ENST00000507738	T;T;T	0.60424	0.19;0.19;0.19	4.77	4.77	0.60923	Motilin/ghrelin (1);	0.000000	0.64402	D	0.000018	T	0.67859	0.2938	M	0.78049	2.395	0.32087	N	0.592316	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.72388	-0.4309	10	0.87932	D	0	-27.1084	12.5462	0.56201	0.0:0.0:0.0:1.0	.	49;49;49	E9PDN2;B7ZLR7;P12872	.;.;MOTI_HUMAN	T	49	ENSP00000388825:K49T;ENSP00000266003:K49T;ENSP00000425467:K49T	ENSP00000266003:K49T	K	-	2	0	MLN	33874948	1.000000	0.71417	0.312000	0.25196	0.949000	0.60115	2.630000	0.46494	1.786000	0.52430	0.533000	0.62120	AAA	MLN	-	pfam_Motilin_ghrelin	ENSG00000096395		0.527	MLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLN	HGNC	protein_coding	OTTHUMT00000040211.4	-	0	44	0	T			33766970	-1	tier1	-	no_errors	ENST00000430124	ensembl	human	known	74_37	missense	21.28	37	10	SNP	1.000	G	G	33766970	T	G	33766970	3	3	83	1	0	0	0	0	1	0	0	0	9669	1841	64	4	213	4	MLN	6	33766970	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	1911266	33766970	137348097	106	21989											
DNAH8	1769	genome.wustl.edu	37	chr6	38705616	38705616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtattgagggaacagtgaaGttaaagacaatagacaatgt	18	9	11	3	0	0	4	0	2	0	2	0	5	0	5	0	1	1	2	0	1	8	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:38705616G>C	ENST00000359357.3	+	5	587	c.333G>C	c.(331-333)aaG>aaC	p.K111N	DNAH8_ENST00000449981.2_Missense_Mutation_p.K328N|DNAH8_ENST00000441566.1_Missense_Mutation_p.K111N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	111					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAACAGTGAAGTTAAAGACAA	0.294																																																	0													91	94	93					6																	38705616		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.333G>C	6.37:g.38705616G>C	ENSP00000352312:p.Lys111Asn		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K111N	ENST00000359357.3	37	c.333		6	.	.	.	.	.	.	.	.	.	.	G	8.078	0.771663	0.16051	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25579	1.82;1.81;1.79	5.74	2.14	0.27477	.	0.551162	0.20272	N	0.095639	T	0.05227	0.0139	L	0.28115	0.83	0.32655	N	0.518872	B	0.02656	0.0	B	0.04013	0.001	T	0.36601	-0.9741	10	0.11794	T	0.64	.	9.6756	0.40039	0.2935:0.0:0.7065:0.0	.	111	Q96JB1	DYH8_HUMAN	N	316;316;111;111	ENSP00000333363:K316N;ENSP00000352312:K111N;ENSP00000402294:K111N	ENSP00000333363:K316N	K	+	3	2	DNAH8	38813594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.790000	0.26900	0.579000	0.29504	0.585000	0.79938	AAG	DNAH8	-	NULL	ENSG00000124721		0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	37	0	G	NM_001206927		38705616	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	17.02	39	8	SNP	0.998	C	C	38705616	G	C	38705616	3	2	83	1	0	0	0	0	1	0	0	0	4621	1020	36	5	343	5	DNAH8	6	38705616	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	4938646	38705616	132409451	107	21990											
MEA1	4201	genome.wustl.edu	37	chr6	42980662	42980662	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgaaagaatgatcttttAcctgggtccatgggaataga	14	11	11	5	0	1	4	0	2	1	2	2	6	2	5	2	2	1	0	2	2	6	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:42980662A>T	ENST00000244711.3	-	3	561		c.e3+1		KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1						cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGATCTTTTACCTGGGTCCA	0.433																																																	0													158	148	151					6																	42980662		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"male-enhanced antigen"	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.406+1T>A	6.37:g.42980662A>T			Q5TC36|Q9BV01	Splice_Site	SNP	-	e3+2	ENST00000244711.3	37	c.406+2	CCDS4879.1	6	.	.	.	.	.	.	.	.	.	.	A	25.4	4.635119	0.87760	.	.	ENSG00000124733	ENST00000244711	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1117	0.81270	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MEA1	43088640	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.281000	0.89905	2.287000	0.76781	0.482000	0.46254	.	MEA1	-	-	ENSG00000124733		0.433	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEA1	HGNC	protein_coding	OTTHUMT00000040574.2	-	0	57	0	A		Intron	42980662	-1	tier1	-	no_errors	ENST00000244711	ensembl	human	known	74_37	splice_site	10.91	49	6	SNP	1.000	T	T	42980662	A	T	42980662	5	4	83	1	0	0	0	0	0	0	1	0	9458	405	14	5	157	5	MEA1	6	42980662	Splice_Site	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	4275046	42980662	128134405	108	21991											
C6orf223	221416	genome.wustl.edu	37	chr6	43970524	43970524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcggcggcGgcggcgggaggagacgcagg	4	0	26	11	10	0	1	0	0	0	1	0	3	0	2	0	11	0	1	0	11	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:43970524G>A	ENST00000336600.5	+	4	410	c.390G>A	c.(388-390)gcG>gcA	p.A130A	C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_Silent_p.A110A|RP5-1120P11.1_ENST00000607590.1_RNA	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			cggcggcggcggcggcggGAG	0.781																																																	0													3	4	3					6																	43970524		1280	2841	4121	SO:0001819	synonymous_variant	0			BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.390G>A	6.37:g.43970524G>A			E9PB59|Q8N575	Silent	SNP	NULL	p.A130	ENST00000336600.5	37	c.390	CCDS34459.1	6																																																																																			C6orf223	-	NULL	ENSG00000181577		0.781	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf223	HGNC	protein_coding	OTTHUMT00000040702.3		0	34	0	G	NM_153246		43970524	1			no_errors	ENST00000336600	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.179	A	A	43970524	G	A	43970524	2	1	83	1	0	0	0	0	0	0	0	1	2364	1103	39	1		1	C6orf223	6	43970524	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	989862	43970524	127144543	109	21992											
OPN5	221391	genome.wustl.edu	37	chr6	47775912	47775912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcgatgttgatttgtgctgGattcctgattgcctggattc	6	16	12	7	1	0	2	0	2	0	0	2	5	1	4	2	2	3	2	2	2	0	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:47775912G>C	ENST00000371211.2	+	5	807	c.779G>C	c.(778-780)gGa>gCa	p.G260A	OPN5_ENST00000393699.2_Missense_Mutation_p.G260A|OPN5_ENST00000489301.2_Missense_Mutation_p.G260A|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	260					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATTTGTGCTGGATTCCTGATT	0.468																																					Melanoma(28;740 973 10870 42660 45347)												0													383	339	354					6																	47775912		2203	4300	6503	SO:0001583	missense	0			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.779G>C	6.37:g.47775912G>C	ENSP00000360255:p.Gly260Ala		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.G260A	ENST00000371211.2	37	c.779	CCDS4923.1	6	.	.	.	.	.	.	.	.	.	.	G	27.7	4.850808	0.91277	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.69561	-0.41;-0.41;-0.41	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58935	0.2157	L	0.28014	0.82	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.55147	-0.8186	10	0.02654	T	1	.	19.8585	0.96775	0.0:0.0:1.0:0.0	.	260	Q6U736	OPN5_HUMAN	A	260	ENSP00000426991:G260A;ENSP00000360255:G260A;ENSP00000377302:G260A	ENSP00000360255:G260A	G	+	2	0	OPN5	47883871	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	GGA	OPN5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000124818		0.468	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	-	0	69	0	G	NM_181744		47775912	1	tier1	-	no_errors	ENST00000371211	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	C	C	47775912	G	C	47775912	3	2	83	1	0	0	0	0	1	0	0	0	10922	1174	41	5	797	5	OPN5	6	47775912	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3805388	47775912	123339155	110	21993											
RHAG	6005	genome.wustl.edu	37	chr6	49573531	49573531	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgattgtcaagttatcTcgtcttagggacctttaaaa	12	14	8	7	1	3	1	1	1	2	0	4	3	3	2	1	1	1	1	1	1	6	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:49573531T>A	ENST00000371175.4	-	10	1251	c.1225A>T	c.(1225-1227)Aga>Tga	p.R409*	RHAG_ENST00000229810.7_3'UTR	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	409					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCAAGTTATCTCGTCTTAGGG	0.383																																					Ovarian(176;476 2003 7720 43408 44749)												0													132	123	126					6																	49573531		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"CD molecules", "Blood group antigens", "Solute carriers"	10006	protein-coding gene	gene with protein product		180297	"Rhesus blood group-associated glycoprotein"			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1225A>T	6.37:g.49573531T>A	ENSP00000360217:p.Arg409*		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Nonsense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.R409*	ENST00000371175.4	37	c.1225	CCDS4927.1	6	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291941	0.59976	.	.	ENSG00000112077	ENST00000371175;ENST00000418071	.	.	.	5.44	4.12	0.48240	.	0.387141	0.30320	N	0.009897	.	.	.	.	.	.	0.20563	N	0.99989	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-0.2016	5.6009	0.17353	0.0:0.1488:0.0:0.8512	.	.	.	.	X	409	.	ENSP00000360217:R409X	R	-	1	2	RHAG	49681490	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	1.245000	0.32790	2.183000	0.69458	0.533000	0.62120	AGA	RHAG	-	NULL	ENSG00000112077		0.383	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	-	0	53	0	T			49573531	-1	tier1	-	no_errors	ENST00000371175	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.004	A	A	49573531	T	A	49573531	4	1	83	1	0	0	0	0	0	1	0	0	13360	1559	54	5	8	5	RHAG	6	49573531	Nonsense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	1797619	49573531	121541536	111	21994											
DST	667	genome.wustl.edu	37	chr6	56437023	56437023	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaagagactatgcaaaacTtcaagatgtttcttgtgttc	12	15	7	7	0	3	2	2	0	1	2	4	3	3	2	0	0	2	3	0	0	5	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:56437023T>C	ENST00000361203.3	-	49	12970	c.12963A>G	c.(12961-12963)gaA>gaG	p.E4321E	DST_ENST00000370788.2_Silent_p.E2235E|DST_ENST00000446842.2_Silent_p.E3997E|DST_ENST00000421834.2_Silent_p.E2235E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.E4323E|DST_ENST00000370754.5_Silent_p.E4501E|DST_ENST00000244364.6_Silent_p.E1909E			Q03001	DYST_HUMAN	dystonin	4321					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGCAAAACTTCAAGATGTT	0.333																																																	0													47	42	43					6																	56437023		1823	4069	5892	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12963A>G	6.37:g.56437023T>C			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.E4501	ENST00000361203.3	37	c.13503		6																																																																																			DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.333	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	128	0	T	NM_001723		56437023	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	29.47	67	28	SNP	1.000	C	C	56437023	T	C	56437023	2	2	83	1	0	0	0	0	0	0	0	1	4797	1606	56	4		4	DST	6	56437023	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	6863492	56437023	114678044	112	21995											
EYS	346007	genome.wustl.edu	37	chr6	65300523	65300523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttgtaagtttaactcaAaatccagagaactatcactt	17	13	4	7	0	2	1	2	0	0	1	3	2	3	1	1	0	2	2	1	0	7	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:65300523A>G	ENST00000370621.3	-	26	5763	c.5237T>C	c.(5236-5238)tTt>tCt	p.F1746S	EYS_ENST00000370616.2_Missense_Mutation_p.F1746S|EYS_ENST00000503581.1_Missense_Mutation_p.F1746S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1746					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTTAACTCAAAATCCAGAGA	0.353																																																	0													39	36	37					6																	65300523		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.5237T>C	6.37:g.65300523A>G	ENSP00000359655:p.Phe1746Ser		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F1746S	ENST00000370621.3	37	c.5237		6	.	.	.	.	.	.	.	.	.	.	A	4.167	0.029539	0.08054	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84442	-1.85;-1.83;-1.83	5.71	3.29	0.37713	.	.	.	.	.	T	0.56949	0.2020	N	0.08118	0	0.19300	N	0.99998	P;P	0.43169	0.8;0.533	B;B	0.43331	0.416;0.237	T	0.54289	-0.8316	9	0.72032	D	0.01	.	6.4881	0.22099	0.7625:0.1573:0.0803:0.0	.	1746;1746	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	S	1746	ENSP00000424243:F1746S;ENSP00000359655:F1746S;ENSP00000359650:F1746S	ENSP00000359650:F1746S	F	-	2	0	EYS	65357244	0.001000	0.12720	0.003000	0.11579	0.008000	0.06430	0.887000	0.28254	0.426000	0.26116	0.482000	0.46254	TTT	EYS	-	NULL	ENSG00000188107		0.353	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	72	0	A	XM_294050		65300523	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	33.72	57	29	SNP	0.033	G	G	65300523	A	G	65300523	3	3	83	1	0	0	0	0	1	0	0	0	5348	14	1	4	4114	4	EYS	6	65300523	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	8863500	65300523	105814544	113	21996											
ZNF292	23036	genome.wustl.edu	37	chr6	87967225	87967225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcccaactggaaaataAtacaaatcattattcctcac	15	14	2	10	0	2	0	2	0	0	0	4	1	4	1	2	1	2	0	2	1	7	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:87967225A>G	ENST00000369577.3	+	8	3921	c.3878A>G	c.(3877-3879)aAt>aGt	p.N1293S	ZNF292_ENST00000339907.4_Missense_Mutation_p.N1288S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1293						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTGGAAAATAATACAAATCAT	0.383																																																	0													46	42	43					6																	87967225		1851	4087	5938	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3878A>G	6.37:g.87967225A>G	ENSP00000358590:p.Asn1293Ser		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N1293S	ENST00000369577.3	37	c.3878	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	A	6.355	0.433579	0.12045	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.05382	3.45;3.46	5.5	-3.82	0.04281	.	0.361191	0.33792	N	0.004555	T	0.00815	0.0027	N	0.12182	0.205	0.25457	N	0.987952	B	0.02656	0.0	B	0.06405	0.002	T	0.43782	-0.9370	10	0.15499	T	0.54	.	9.0492	0.36365	0.3782:0.1271:0.4947:0.0	.	1293	O60281	ZN292_HUMAN	S	1293;1288	ENSP00000358590:N1293S;ENSP00000342847:N1288S	ENSP00000342847:N1288S	N	+	2	0	ZNF292	88023944	0.203000	0.23435	0.966000	0.40874	0.993000	0.82548	0.010000	0.13242	-0.736000	0.04831	0.528000	0.53228	AAT	ZNF292	-	NULL	ENSG00000188994		0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	57	0	A	NM_015021		87967225	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	46.43	15	13	SNP	0.972	G	G	87967225	A	G	87967225	3	3	83	1	0	0	0	0	1	0	0	0	17874	101	4	4	3908	4	ZNF292	6	87967225	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	22666702	87967225	83147842	114	21997											
C6orf167	253714	genome.wustl.edu	37	chr6	97679434	97679434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgatcttgtttatcgcaaCagcaagtcttcaccatttca	10	14	5	12	1	4	1	2	1	2	0	5	1	4	1	2	0	2	3	2	0	3	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:97679434C>G	ENST00000275053.4	-	13	1662	c.1397G>C	c.(1396-1398)tGt>tCt	p.C466S	MMS22L_ENST00000369251.2_Missense_Mutation_p.C426S	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	466					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.C466F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTATCGCAACAGCAAGTCTT	0.343																																																	1	Substitution - Missense(1)	lung(1)											95	92	93					6																	97679434		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1397G>C	6.37:g.97679434C>G	ENSP00000275053:p.Cys466Ser		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C466S	ENST00000275053.4	37	c.1397	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642921	0.14451	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34859	1.34;1.34	4.78	2.91	0.33838	.	0.120753	0.56097	D	0.000026	T	0.22166	0.0534	M	0.74258	2.255	0.54753	D	0.999986	P;P	0.39216	0.664;0.554	B;B	0.37989	0.262;0.188	T	0.04103	-1.0977	10	0.72032	D	0.01	-2.3041	8.0515	0.30581	0.1564:0.7612:0.0:0.0824	.	426;466	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	S	466;426	ENSP00000275053:C466S;ENSP00000358254:C426S	ENSP00000275053:C466S	C	-	2	0	MMS22L	97786155	0.998000	0.40836	0.998000	0.56505	0.153000	0.21895	2.252000	0.43196	0.375000	0.24679	0.655000	0.94253	TGT	MMS22L	-	NULL	ENSG00000146263		0.343	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	84	0	C	NM_198468		97679434	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	24.29	53	17	SNP	1.000	G	G	97679434	C	G	97679434	3	3	83	1	0	0	0	0	1	0	0	0	2349	478	17	5	2386	5	C6orf167	6	97679434	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	9712209	97679434	73435633	115	21998											
HACE1	57531	genome.wustl.edu	37	chr6	105239382	105239382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatacttttctcaccttGaacacctggcttcttggagt	8	15	6	12	0	2	1	1	1	2	0	3	2	2	2	3	2	2	1	3	2	3	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:105239382G>T	ENST00000262903.4	-	11	1347	c.1071C>A	c.(1069-1071)ttC>ttA	p.F357L	HACE1_ENST00000369125.2_Missense_Mutation_p.F357L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	357					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCTCACCTTGAACACCTGGC	0.393																																																	0													165	156	159					6																	105239382		2203	4300	6503	SO:0001583	missense	0			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"Ankyrin repeat domain containing"	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1071C>A	6.37:g.105239382G>T	ENSP00000262903:p.Phe357Leu		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt	p.F357L	ENST00000262903.4	37	c.1071	CCDS5050.1	6	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542485	0.65198	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.38887	1.13;1.11	5.84	4.97	0.65823	.	0.045094	0.85682	N	0.000000	T	0.16557	0.0398	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.07693	-1.0759	10	0.14656	T	0.56	.	16.9769	0.86315	0.0:0.1276:0.8723:0.0	.	357;357	E9PGP0;Q8IYU2	.;HACE1_HUMAN	L	357	ENSP00000262903:F357L;ENSP00000358121:F357L	ENSP00000262903:F357L	F	-	3	2	HACE1	105346075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.532000	0.53553	1.445000	0.47624	0.650000	0.86243	TTC	HACE1	-	NULL	ENSG00000085382		0.393	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HACE1	HGNC	protein_coding	OTTHUMT00000041643.2	-	0	68	0	G	XM_045095		105239382	-1	tier1	-	no_errors	ENST00000262903	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	105239382	G	T	105239382	3	4	83	1	0	0	0	0	1	0	0	0	6967	1281	45	3	1714	3	HACE1	6	105239382	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	7559948	105239382	65875685	116	21999											
FYN	2534	genome.wustl.edu	37	chr6	112015848	112015848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtgctgccatgtccaCaagatttggtaatttcagag	10	13	9	9	0	1	2	1	0	0	2	2	2	2	2	3	1	3	2	3	1	3	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:112015848C>T	ENST00000354650.3	-	11	1708	c.1102G>A	c.(1102-1104)Gtg>Atg	p.V368M	FYN_ENST00000356013.2_Missense_Mutation_p.V313M|FYN_ENST00000368682.3_Missense_Mutation_p.V365M|FYN_ENST00000229471.4_Missense_Mutation_p.V313M|FYN_ENST00000368678.4_Missense_Mutation_p.V365M|FYN_ENST00000229470.5_Missense_Mutation_p.V316M|FYN_ENST00000368667.2_Missense_Mutation_p.V368M|FYN_ENST00000476769.2_5'Flank|FYN_ENST00000538466.1_Missense_Mutation_p.V365M	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	368	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCCATGTCCACAAGATTTGGT	0.388																																																	0													175	166	169					6																	112015848		2203	4300	6503	SO:0001583	missense	0			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"SH2 domain containing"	4037	protein-coding gene	gene with protein product		137025	"FYN oncogene related to SRC, FGR, YES"			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1102G>A	6.37:g.112015848C>T	ENSP00000346671:p.Val368Met		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.V368M	ENST00000354650.3	37	c.1102	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443102	0.83993	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87573	0.6211	L	0.43757	1.38	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.83275	0.996;0.968;0.99;0.996	D	0.87744	0.2587	10	0.87932	D	0	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	316;368;313;365	B3KPS6;P06241;P06241-3;E1P556	.;FYN_HUMAN;.;.	M	365;368;313;368;365;316;313;365;316	ENSP00000357671:V365M;ENSP00000346671:V368M;ENSP00000229471:V313M;ENSP00000357656:V368M;ENSP00000357667:V365M;ENSP00000229470:V316M;ENSP00000348295:V313M;ENSP00000440646:V365M	ENSP00000229470:V316M	V	-	1	0	FYN	112122541	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GTG	FYN	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000010810		0.388	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	-	0	61	0	C			112015848	-1	tier1	-	no_errors	ENST00000354650	ensembl	human	known	74_37	missense	27.40	53	20	SNP	1.000	T	T	112015848	C	T	112015848	3	4	83	1	0	0	0	0	1	0	0	0	6150	478	17	3	527	3	FYN	6	112015848	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	6776466	112015848	59099219	117	22000											
DCBLD1	285761	genome.wustl.edu	37	chr6	117841079	117841079	+	Frame_Shift_Del	DEL	T	T	-																															tcccacatttctggccggggTtttttgctgacctatgcgag																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:117841079delT	ENST00000338728.5	+	3	546	c.426delT	c.(424-426)ggtfs	p.G142fs	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Frame_Shift_Del_p.G142fs|DCBLD1_ENST00000296955.8_Frame_Shift_Del_p.G142fs			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	142	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CTGGCCGGGGTTTTTTGCTGA	0.443																																																	0													130	119	123					6																	117841079		2203	4300	6503	SO:0001589	frameshift_variant	0			AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.426delT	6.37:g.117841079delT	ENSP00000342422:p.Gly142fs		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Frame_Shift_Del	DEL	pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.L144fs	ENST00000338728.5	37	c.426		6																																																																																			DCBLD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164465		0.443	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	DCBLD1	HGNC	protein_coding	OTTHUMT00000041979.2		0	58	0	T	NM_173674		117841079	1	tier1		no_errors	ENST00000338728	ensembl	human	known	74_37	frame_shift_del	37.29	37	22	DEL	0.025	-	-	117841079	T	-	117841079	7	5	83	1	0	1	0	1	0	0	0	0	4289	1712	60	0	436	0	DCBLD1	6	117841079	Frame_Shift_Del	DEL	T	TCGA-L5-A8NI-01A-11D-A37C-09	5825231	117841079	53273988	118	22001											
TAAR2	9287	genome.wustl.edu	37	chr6	132938983	132938983	+	Missense_Mutation	SNP	C	C	A																															tgctaagcatcaggtcaaaaCtataataaatcttgcaaaat																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:132938983C>A	ENST00000367931.1	-	2	361	c.362G>T	c.(361-363)aGt>aTt	p.S121I	TAAR2_ENST00000275191.2_Missense_Mutation_p.S76I|TAAR2_ENST00000537809.1_Missense_Mutation_p.S76I			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	121					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CAGGTCAAAACTATAATAAAT	0.368																																																	0													78	75	76					6																	132938983		2203	4300	6503	SO:0001583	missense	0			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.362G>T	6.37:g.132938983C>A	ENSP00000356908:p.Ser121Ile		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.S121I	ENST00000367931.1	37	c.362	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713803	0.68730	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.19394	2.15;2.15;2.15	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.049047	0.85682	D	0.000000	T	0.37210	0.0995	L	0.49699	1.58	0.46701	D	0.999161	D	0.89917	1.0	D	0.91635	0.999	T	0.04140	-1.0974	10	0.66056	D	0.02	-38.712	20.4946	0.99205	0.0:1.0:0.0:0.0	.	121	Q9P1P5	TAAR2_HUMAN	I	76;121;76	ENSP00000275191:S76I;ENSP00000356908:S121I;ENSP00000441263:S76I	ENSP00000275191:S76I	S	-	2	0	TAAR2	132980676	0.968000	0.33430	1.000000	0.80357	0.797000	0.45037	2.636000	0.46545	2.846000	0.97976	0.650000	0.86243	AGT	TAAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000146378		0.368	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1		0	30	0	C	NM_014626		132938983	-1			no_errors	ENST00000367931	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	A	A	132938983	C	A	132938983	3	1	83	1	0	0	0	0	1	0	0	0	15537	565	20	3	697	3	TAAR2	6	132938983	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	15097904	132938983	38176084	119	22002	87	2									
TAAR2	9287	genome.wustl.edu	37	chr6	132938985	132938985	+	Silent	SNP	A	A	G																															ctaagcatcaggtcaaaactAtaataaatcttgcaaaatgt																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:132938985A>G	ENST00000367931.1	-	2	359	c.360T>C	c.(358-360)taT>taC	p.Y120Y	TAAR2_ENST00000275191.2_Silent_p.Y75Y|TAAR2_ENST00000537809.1_Silent_p.Y75Y			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	120					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GGTCAAAACTATAATAAATCT	0.373																																																	0													79	76	77					6																	132938985		2203	4300	6503	SO:0001819	synonymous_variant	0			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"GPCR / Class A : Trace amine associated receptors"	4514	protein-coding gene	gene with protein product		604849	"G protein-coupled receptor 58"	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.360T>C	6.37:g.132938985A>G			Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.Y120	ENST00000367931.1	37	c.360	CCDS34541.1	6																																																																																			TAAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000146378		0.373	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1		0	34	0	A	NM_014626		132938985	-1			no_errors	ENST00000367931	ensembl	human	known	74_37	silent	25.58	32	11	SNP	0.848	G	G	132938985	A	G	132938985	2	3	83	1	0	0	0	0	0	0	0	1	15537	456	16	4		4	TAAR2	6	132938985	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	2	132938985	38176082	120	22003	87	2									
TNFAIP3	7128	genome.wustl.edu	37	chr6	138192616	138192616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagccagaagaaactcaaCtggtgtcgagaagtccggaa	16	5	12	8	2	1	3	1	0	0	3	3	6	2	4	2	2	3	0	2	2	6	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:138192616C>G	ENST00000237289.4	+	2	318	c.252C>G	c.(250-252)aaC>aaG	p.N84K		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	84	TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AGAAACTCAACTGGTGTCGAG	0.507			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											158	148	152					6																	138192616		2203	4300	6503	SO:0001583	missense	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.252C>G	6.37:g.138192616C>G	ENSP00000237289:p.Asn84Lys		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.N84K	ENST00000237289.4	37	c.252	CCDS5187.1	6	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060643	0.76074	.	.	ENSG00000118503	ENST00000420009;ENST00000237289;ENST00000433680;ENST00000535574;ENST00000535332;ENST00000539356;ENST00000544646;ENST00000536070	T;T	0.57273	0.41;0.51	6.08	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	L	0.36672	1.1	0.53688	D	0.999979	D	0.89917	1.0	D	0.91635	0.999	T	0.52983	-0.8502	10	0.87932	D	0	-3.3656	8.7108	0.34382	0.0:0.694:0.0:0.306	.	84	P21580	TNAP3_HUMAN	K	84	ENSP00000401562:N84K;ENSP00000237289:N84K	ENSP00000237289:N84K	N	+	3	2	TNFAIP3	138234309	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.820000	0.39032	0.394000	0.25230	-0.345000	0.07892	AAC	TNFAIP3	-	NULL	ENSG00000118503		0.507	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1	-	0	43	0	C			138192616	1	tier1	-	no_errors	ENST00000237289	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	G	G	138192616	C	G	138192616	3	3	83	1	0	0	0	0	1	0	0	0	16321	564	20	5	254	5	TNFAIP3	6	138192616	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	5253631	138192616	32922451	121	22004											
VTA1	51534	genome.wustl.edu	37	chr6	142539707	142539707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgctggcagtgctttgcAgtatgaagatgtaagcactg	11	12	12	6	0	0	2	0	1	0	1	0	2	0	2	0	1	4	7	0	1	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:142539707A>G	ENST00000367630.4	+	8	909	c.851A>G	c.(850-852)cAg>cGg	p.Q284R	VTA1_ENST00000367621.1_Missense_Mutation_p.Q226R|VTA1_ENST00000452973.2_Missense_Mutation_p.Q199R	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	284	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		AGTGCTTTGCAGTATGAAGAT	0.428																																																	0													74	74	74					6																	142539707		2203	4299	6502	SO:0001583	missense	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.851A>G	6.37:g.142539707A>G	ENSP00000356602:p.Gln284Arg		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	NULL	p.Q284R	ENST00000367630.4	37	c.851	CCDS5197.1	6	.	.	.	.	.	.	.	.	.	.	A	26.4	4.733782	0.89482	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973	T;T;T	0.50277	0.75;0.75;0.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.971	T	0.58589	-0.7610	10	0.33940	T	0.23	-9.715	16.3871	0.83514	1.0:0.0:0.0:0.0	.	199;284	E7ETQ7;Q9NP79	.;VTA1_HUMAN	R	284;226;199	ENSP00000356602:Q284R;ENSP00000356593:Q226R;ENSP00000395767:Q199R	ENSP00000356593:Q226R	Q	+	2	0	VTA1	142581400	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.850000	0.92190	2.265000	0.75225	0.533000	0.62120	CAG	VTA1	-	NULL	ENSG00000009844		0.428	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	-	0	58	0	A	NM_016485		142539707	1	tier1	-	no_errors	ENST00000367630	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	G	G	142539707	A	G	142539707	3	3	83	1	0	0	0	0	1	0	0	0	17282	188	7	4	881	4	VTA1	6	142539707	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	4347091	142539707	28575360	122	22005											
GRM1	2911	genome.wustl.edu	37	chr6	146720652	146720652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcagtgtaacagtggCtctggggtgcatgttcactc	7	12	13	9	0	3	0	2	0	2	0	5	1	3	0	0	3	2	4	0	3	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:146720652C>T	ENST00000282753.1	+	7	2712	c.2477C>T	c.(2476-2478)gCt>gTt	p.A826V	GRM1_ENST00000392299.2_Missense_Mutation_p.A826V|GRM1_ENST00000507907.1_Missense_Mutation_p.A826V|GRM1_ENST00000361719.2_Missense_Mutation_p.A826V|GRM1_ENST00000355289.4_Missense_Mutation_p.A826V|GRM1_ENST00000492807.2_Missense_Mutation_p.A826V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	826					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTAACAGTGGCTCTGGGGTGC	0.483																																																	0													148	118	128					6																	146720652		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2477C>T	6.37:g.146720652C>T	ENSP00000282753:p.Ala826Val		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.A826V	ENST00000282753.1	37	c.2477	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667117	0.67814	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.68	5.68	0.88126	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	N	0.17723	0.515	0.80722	D	1	D;D;D	0.89917	0.983;1.0;0.994	D;D;P	0.91635	0.915;0.999;0.885	D	0.84628	0.0688	10	0.27082	T	0.32	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	826;826;826	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	V	826	ENSP00000354896:A826V;ENSP00000376119:A826V;ENSP00000424095:A826V;ENSP00000282753:A826V;ENSP00000347437:A826V;ENSP00000425599:A826V	ENSP00000282753:A826V	A	+	2	0	GRM1	146762345	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.089000	0.71384	2.686000	0.91538	0.585000	0.79938	GCT	GRM1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt	ENSG00000152822		0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	63	0	C	NM_000838		146720652	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	37.14	44	26	SNP	1.000	T	T	146720652	C	T	146720652	3	4	83	1	0	0	0	0	1	0	0	0	6823	797	28	3	2503	3	GRM1	6	146720652	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	4180945	146720652	24394415	123	22006											
PPP1R14C	81706	genome.wustl.edu	37	chr6	150569908	150569908	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcaaagagctgctttctcgGataagaggcatgaggaaact	14	9	11	7	1	2	3	1	1	1	2	3	5	2	5	0	3	3	3	0	3	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:150569908G>A	ENST00000361131.4	+	4	567	c.450G>A	c.(448-450)cgG>cgA	p.R150R		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	150					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)|membrane (GO:0016020)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		TGCTTTCTCGGATAAGAGGCA	0.393																																					Melanoma(165;1879 1941 2052 16588 48349)												0													62	63	63					6																	150569908		2203	4300	6503	SO:0001819	synonymous_variant	0			AF308297	CCDS5226.1	6q24.3-q25.3	2012-04-17			ENSG00000198729	ENSG00000198729		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14952	protein-coding gene	gene with protein product	"kinase C-enhanced PP1 inhibitor"	613242				11948623	Standard	NM_030949		Approved	CPI17-like, NY-BR-81, KEPI	uc003qnt.3	Q8TAE6	OTTHUMG00000015818	ENST00000361131.4:c.450G>A	6.37:g.150569908G>A			Q5VY83|Q96BB1|Q9H277	Silent	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.R150	ENST00000361131.4	37	c.450	CCDS5226.1	6																																																																																			PPP1R14C	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	ENSG00000198729		0.393	PPP1R14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14C	HGNC	protein_coding	OTTHUMT00000042685.1	-	0	98	0	G	NM_030949		150569908	1	tier1	-	no_errors	ENST00000361131	ensembl	human	known	74_37	silent	43.82	50	39	SNP	1.000	A	A	150569908	G	A	150569908	2	1	83	1	0	0	0	0	0	0	0	1	12403	1161	41	3		3	PPP1R14C	6	150569908	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3849256	150569908	20545159	124	22007											
ARID1B	57492	genome.wustl.edu	37	chr6	157521973	157521973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcctactcgggcccggaCcgcaggcccatccagggcca	6	4	13	18	3	0	0	0	0	0	0	3	1	2	1	6	5	1	2	6	5	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:157521973C>A	ENST00000350026.5	+	17	4207	c.4206C>A	c.(4204-4206)gaC>gaA	p.D1402E	ARID1B_ENST00000275248.4_Missense_Mutation_p.D1397E|ARID1B_ENST00000367148.1_Missense_Mutation_p.D1455E|ARID1B_ENST00000346085.5_Missense_Mutation_p.D1415E	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1402					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGGGCCCGGACCGCAGGCCCA	0.632																																																	0													40	46	44					6																	157521973		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4206C>A	6.37:g.157521973C>A	ENSP00000055163:p.Asp1402Glu		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D1455E	ENST00000350026.5	37	c.4365	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	4.766	0.142446	0.09083	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.01854	4.91;4.91;4.92;4.92;4.6	4.88	2.05	0.26809	.	0.163538	0.53938	N	0.000045	T	0.00271	0.0008	N	0.03000	-0.44	0.38393	D	0.945447	B;B;B	0.16166	0.009;0.016;0.016	B;B;B	0.19148	0.011;0.024;0.016	T	0.39563	-0.9608	10	0.02654	T	1	.	3.2675	0.06870	0.1293:0.4766:0.251:0.1431	.	1402;1415;1397	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	E	1415;1402;1455;1397;924	ENSP00000344546:D1415E;ENSP00000055163:D1402E;ENSP00000356116:D1455E;ENSP00000275248:D1397E;ENSP00000412835:D924E	ENSP00000275248:D1397E	D	+	3	2	ARID1B	157563665	0.003000	0.15002	0.036000	0.18154	0.515000	0.34225	-0.511000	0.06321	0.183000	0.20059	0.655000	0.94253	GAC	ARID1B	-	NULL	ENSG00000049618		0.632	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	57	0	C	NM_020732		157521973	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	43.04	45	34	SNP	0.880	A	A	157521973	C	A	157521973	3	1	83	1	0	0	0	0	1	0	0	0	914	506	18	3	4315	3	ARID1B	6	157521973	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	6952065	157521973	13593094	125	22008											
PDE10A	10846	genome.wustl.edu	37	chr6	165829695	165829695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgttaaagcgtgggtctGcataggcatctggaatgttc	9	12	12	8	1	2	0	0	0	2	0	3	1	2	1	1	3	2	4	1	3	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:165829695G>A	ENST00000366882.1	-	13	1197	c.1043C>T	c.(1042-1044)gCa>gTa	p.A348V	PDE10A_ENST00000354448.4_Missense_Mutation_p.A348V|PDE10A_ENST00000539869.2_Missense_Mutation_p.A358V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	348	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GCGTGGGTCTGCATAGGCATC	0.453																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													266	235	245					6																	165829695		2203	4300	6503	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1043C>T	6.37:g.165829695G>A	ENSP00000355847:p.Ala348Val		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.A358V	ENST00000366882.1	37	c.1073		6	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198985	0.79015	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69040	-0.37;-0.37	5.2	5.2	0.72013	GAF (2);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	L	0.60455	1.87	0.80722	D	1	D;D	0.69078	0.997;0.964	D;P	0.80764	0.994;0.661	T	0.76225	-0.3037	10	0.51188	T	0.08	.	18.7528	0.91821	0.0:0.0:1.0:0.0	.	358;348	Q9ULW9;Q9Y233	.;PDE10_HUMAN	V	348;376;358;348;347	ENSP00000355847:A348V;ENSP00000346435:A348V	ENSP00000341187:A358V	A	-	2	0	PDE10A	165749685	1.000000	0.71417	0.436000	0.26797	0.731000	0.41821	9.507000	0.97996	2.430000	0.82344	0.561000	0.74099	GCA	PDE10A	-	pfam_GAF,smart_GAF	ENSG00000112541		0.453	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	-	0	56	0	G			165829695	-1	tier1	-	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	165829695	G	A	165829695	3	1	83	1	0	0	0	0	1	0	0	0	11669	1319	46	3	1340	3	PDE10A	6	165829695	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	8307722	165829695	5285372	126	22009											
MLLT4	4301	genome.wustl.edu	37	chr6	168276141	168276141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattggaaaagagaatgcaGgaatttcggagctcagatgg	16	8	13	4	1	1	2	1	0	0	2	2	6	1	5	0	4	2	2	0	4	5	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:168276141G>T	ENST00000447894.2	+	5	705	c.705G>T	c.(703-705)caG>caT	p.Q235H	MLLT4_ENST00000366806.2_Missense_Mutation_p.Q235H|MLLT4_ENST00000392112.1_Missense_Mutation_p.Q234H|MLLT4_ENST00000400822.3_Missense_Mutation_p.Q234H|MLLT4_ENST00000344191.4_Missense_Mutation_p.Q235H|MLLT4_ENST00000351017.4_Missense_Mutation_p.Q235H|MLLT4_ENST00000392108.3_Missense_Mutation_p.Q235H			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	235					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGAATGCAGGAATTTCGGA	0.418			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0													196	208	204					6																	168276141		2203	4296	6499	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.705G>T	6.37:g.168276141G>T	ENSP00000404595:p.Gln235His		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q235H	ENST00000447894.2	37	c.705		6	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312419	0.60414	.	.	ENSG00000130396	ENST00000400825;ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400824;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05786	3.57;3.48;3.58;3.58;3.39;3.48;3.48	4.48	-0.263	0.12954	.	0.074745	0.56097	N	0.000035	T	0.11580	0.0282	M	0.74647	2.275	0.49299	D	0.999775	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.83275	0.996;0.982;0.983	T	0.02326	-1.1176	10	0.87932	D	0	-0.7089	9.6376	0.39819	0.5346:0.0:0.4654:0.0	.	234;235;234	P55196-5;P55196-6;P55196-2	.;.;.	H	235;235;235;235;235;234;235;236;234;235	ENSP00000341118:Q235H;ENSP00000252692:Q235H;ENSP00000375956:Q235H;ENSP00000355771:Q235H;ENSP00000375960:Q234H;ENSP00000383623:Q234H;ENSP00000404595:Q235H	ENSP00000345834:Q235H	Q	+	3	2	MLLT4	168018990	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	0.797000	0.26999	-0.000000	0.14550	0.460000	0.39030	CAG	MLLT4	-	NULL	ENSG00000130396		0.418	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	-	0	80	0	G	NM_005936		168276141	1	tier1	-	no_errors	ENST00000366806	ensembl	human	known	74_37	missense	47.00	52	47	SNP	1.000	T	T	168276141	G	T	168276141	3	4	83	1	0	0	0	0	1	0	0	0	9667	991	35	3	723	3	MLLT4	6	168276141	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2446446	168276141	2838926	127	22010											
THBS2	7058	genome.wustl.edu	37	chr6	169648555	169648555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttggccacgtacatcCggctcttttccgcctgcagg	5	11	10	15	3	1	0	0	0	1	0	3	0	3	0	5	3	3	3	5	3	1	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr6:169648555C>T	ENST00000366787.3	-	4	815	c.566G>A	c.(565-567)cGg>cAg	p.R189Q		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	189	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R189P(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACGTACATCCGGCTCTTTTC	0.612																																					Esophageal Squamous(91;219 1934 18562 44706)												1	Substitution - Missense(1)	ovary(1)											101	104	103					6																	169648555		2203	4300	6503	SO:0001583	missense	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.566G>A	6.37:g.169648555C>T	ENSP00000355751:p.Arg189Gln		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R189Q	ENST00000366787.3	37	c.566	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223377	0.39300	.	.	ENSG00000186340	ENST00000366787	T	0.02216	4.39	4.5	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.159155	0.28268	U	0.015970	T	0.00906	0.0030	L	0.41573	1.285	0.26483	N	0.975079	B	0.25772	0.134	B	0.17433	0.018	T	0.45963	-0.9225	10	0.45353	T	0.12	-39.3345	9.9005	0.41344	0.0:0.8357:0.0:0.1643	.	189	P35442	TSP2_HUMAN	Q	189	ENSP00000355751:R189Q	ENSP00000355751:R189Q	R	-	2	0	THBS2	169390480	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	2.330000	0.43885	2.204000	0.70986	0.563000	0.77884	CGG	THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000186340		0.612	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1		0	22	0	C	NM_003247		169648555	-1			no_errors	ENST00000366787	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	169648555	C	T	169648555	3	4	83	1	0	0	0	0	1	0	0	0	15901	652	23	1	3032	1	THBS2	6	169648555	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	1372414	169648555	1466512	128	22011											
THSD7A	221981	genome.wustl.edu	37	chr7	11676143	11676143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtccggtgctggagcccGctgccgcaggtcttggagca	4	7	16	14	5	1	0	0	0	1	0	2	2	2	2	3	4	4	4	3	4	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:11676143G>A	ENST00000423059.4	-	2	887	c.636C>T	c.(634-636)agC>agT	p.S212S	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	212	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCTGGAGCCCGCTGCCGCAGG	0.607										HNSCC(18;0.044)																																							0													35	35	35					7																	11676143		1989	4170	6159	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.636C>T	7.37:g.11676143G>A				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S212	ENST00000423059.4	37	c.636	CCDS47543.1	7																																																																																			THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.607	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4		0	20	0	G	XM_928187.2		11676143	-1			no_errors	ENST00000423059	ensembl	human	known	74_37	silent	10.53	17	2	SNP	0.891	A	A	11676143	G	A	11676143	2	1	83	1	0	0	0	0	0	0	0	1	15926	1078	38	1		1	THSD7A	7	11676143	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		11676143	147462520	129	22012											
DDX56	54606	genome.wustl.edu	37	chr7	44608558	44608558	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaatcttgcctcccGaatggcctgcttagtcactg	6	13	7	15	1	3	0	2	0	1	0	5	1	5	0	4	1	2	1	4	1	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:44608558G>T	ENST00000258772.5	-	11	1433	c.1327C>A	c.(1327-1329)Cgg>Agg	p.R443R	DDX56_ENST00000431640.1_Silent_p.R403R|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	443					ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.R443R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGCCTCCCGAATGGCCTGC	0.537																																																	1	Substitution - coding silent(1)	lung(1)											177	149	159					7																	44608558		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.1327C>A	7.37:g.44608558G>T			A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R443	ENST00000258772.5	37	c.1327	CCDS5492.1	7																																																																																			DDX56	-	NULL	ENSG00000136271		0.537	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	HGNC	protein_coding	OTTHUMT00000251291.1		0	49	0	G	NM_019082		44608558	-1			no_errors	ENST00000258772	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.254	T	T	44608558	G	T	44608558	2	4	83	1	0	0	0	0	0	0	0	1	4383	1057	37	2		2	DDX56	7	44608558	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	32932415	44608558	114530105	130	22013											
DDX56	54606	genome.wustl.edu	37	chr7	44611155	44611155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaactgttccaagaacaGgcgtagccggtaactccgtt	10	9	11	11	3	0	2	0	1	0	1	2	2	2	2	3	2	4	5	3	2	5	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:44611155G>C	ENST00000258772.5	-	6	932	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	DDX56_ENST00000431640.1_Missense_Mutation_p.L276V|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	276	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TCCAAGAACAGGCGTAGCCGG	0.512																																																	0													76	71	73					7																	44611155		2203	4300	6503	SO:0001583	missense	0			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"DEAD-boxes"	18193	protein-coding gene	gene with protein product	"nucleolar helicase of 61 kDa"	608023	"DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.826C>G	7.37:g.44611155G>C	ENSP00000258772:p.Leu276Val		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L276V	ENST00000258772.5	37	c.826	CCDS5492.1	7	.	.	.	.	.	.	.	.	.	.	.	22.0	4.233233	0.79688	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.77229	-1.08;3.83	5.82	5.82	0.92795	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.90888	0.4759	10	0.59425	D	0.04	-19.1177	17.5789	0.87960	0.0:0.0:1.0:0.0	.	276;276	C9JV95;Q9NY93	.;DDX56_HUMAN	V	276	ENSP00000258772:L276V;ENSP00000393488:L276V	ENSP00000258772:L276V	L	-	1	2	DDX56	44577680	1.000000	0.71417	0.981000	0.43875	0.516000	0.34256	7.169000	0.77578	2.743000	0.94032	0.563000	0.77884	CTG	DDX56	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000136271		0.512	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	HGNC	protein_coding	OTTHUMT00000251291.1	-	0	48	0	G	NM_019082		44611155	-1	tier1	-	no_errors	ENST00000258772	ensembl	human	known	74_37	missense	17.19	52	11	SNP	1.000	C	C	44611155	G	C	44611155	3	2	83	1	0	0	0	0	1	0	0	0	4383	991	35	5	853	5	DDX56	7	44611155	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2597	44611155	114527508	131	22014											
VSTM2A	222008	genome.wustl.edu	37	chr7	54617774	54617774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtctccgcagccatccccaGcagcatccatggctctgcca	7	7	8	19	2	2	0	0	0	2	0	5	0	4	0	6	1	4	4	6	1	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:54617774G>A	ENST00000407838.3	+	4	951	c.545G>A	c.(544-546)aGc>aAc	p.S182N	VSTM2A_ENST00000402026.2_Missense_Mutation_p.S181N|VSTM2A_ENST00000404951.1_Missense_Mutation_p.S182N|VSTM2A_ENST00000302287.3_Missense_Mutation_p.S182N|VSTM2A_ENST00000402613.3_Missense_Mutation_p.S182N|VSTM2A_ENST00000498834.1_3'UTR	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	182						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCATCCCCAGCAGCATCCAT	0.572																																																	0													69	56	60					7																	54617774		2202	4300	6502	SO:0001583	missense	0			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"Immunoglobulin superfamily / V-set domain containing"	28499	protein-coding gene	gene with protein product			"V-set and transmembrane domain containing 2"	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.545G>A	7.37:g.54617774G>A	ENSP00000384967:p.Ser182Asn		A4D2E9|B5MC94	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S181N	ENST00000407838.3	37	c.542	CCDS5512.2	7	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199695	0.22121	.	.	ENSG00000170419	ENST00000302287;ENST00000407838;ENST00000404951;ENST00000402026;ENST00000402613	T;T;T;T;T	0.47528	0.85;0.86;0.84;0.85;0.88	5.06	3.24	0.37175	.	0.282442	0.45361	N	0.000367	T	0.40322	0.1112	M	0.64997	1.995	0.26831	N	0.968577	B;B;B	0.29188	0.012;0.037;0.236	B;B;B	0.22386	0.012;0.039;0.039	T	0.24870	-1.0148	10	0.31617	T	0.26	-10.5966	9.4332	0.38624	0.1765:0.0:0.8235:0.0	.	182;182;182	Q8TAG5;Q8TAG5-2;B5MCX6	VTM2A_HUMAN;.;.	N	182;182;182;181;182	ENSP00000303108:S182N;ENSP00000384967:S182N;ENSP00000384701:S182N;ENSP00000385933:S181N;ENSP00000384103:S182N	ENSP00000303108:S182N	S	+	2	0	VSTM2A	54585268	1.000000	0.71417	0.897000	0.35233	0.126000	0.20510	3.917000	0.56424	0.631000	0.30412	0.655000	0.94253	AGC	VSTM2A	-	NULL	ENSG00000170419		0.572	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1	-	0	64	0	G	NM_182546		54617774	1	tier1	-	no_errors	ENST00000402026	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	54617774	G	A	54617774	3	1	83	1	0	0	0	0	1	0	0	0	17278	971	34	3	559	3	VSTM2A	7	54617774	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	10006619	54617774	104520889	132	22015											
MLXIPL	51085	genome.wustl.edu	37	chr7	73012035	73012035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaaggggccagggcagctGttccgagcctggttgggggg	5	7	19	10	1	0	0	0	0	0	0	2	1	2	0	4	7	2	4	4	7	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:73012035G>C	ENST00000313375.3	-	9	1127	c.1080C>G	c.(1078-1080)aaC>aaG	p.N360K	MLXIPL_ENST00000429400.2_Missense_Mutation_p.N360K|MLXIPL_ENST00000414749.2_Missense_Mutation_p.N360K|MLXIPL_ENST00000395189.1_Missense_Mutation_p.N267K|MLXIPL_ENST00000434326.1_Missense_Mutation_p.N267K|MLXIPL_ENST00000354613.1_Missense_Mutation_p.N360K	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	360					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGGGCAGCTGTTCCGAGCCT	0.667																																																	0													20	25	23					7																	73012035		1589	3253	4842	SO:0001583	missense	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"carbohydrate response element binding protein"	605678	"Williams Beuren syndrome chromosome region 14"	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1080C>G	7.37:g.73012035G>C	ENSP00000320886:p.Asn360Lys		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N360K	ENST00000313375.3	37	c.1080	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	4.105	0.017644	0.07959	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326;ENST00000453275	T;T;T;T;T;T	0.21734	2.59;2.59;2.59;2.59;1.99;1.99	4.31	3.42	0.39159	.	1.460240	0.03942	N	0.287057	T	0.14874	0.0359	N	0.22421	0.69	0.09310	N	0.999991	B;B;B;B;B;B	0.30482	0.281;0.034;0.02;0.034;0.034;0.034	B;B;B;B;B;B	0.19946	0.027;0.025;0.011;0.025;0.025;0.025	T	0.27054	-1.0085	10	0.15066	T	0.55	-6.012	9.9473	0.41616	0.1037:0.0:0.8963:0.0	.	267;267;360;360;360;360	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	K	360;360;360;360;267;267;193	ENSP00000412330:N360K;ENSP00000406296:N360K;ENSP00000320886:N360K;ENSP00000346629:N360K;ENSP00000378616:N267K;ENSP00000392636:N267K	ENSP00000320886:N360K	N	-	3	2	MLXIPL	72649971	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	3.400000	0.52594	0.800000	0.34041	0.423000	0.28283	AAC	MLXIPL	-	NULL	ENSG00000009950		0.667	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	-	0	36	0	G	NM_032951		73012035	-1	tier1	-	no_errors	ENST00000313375	ensembl	human	known	74_37	missense	68.42	6	13	SNP	0.975	C	C	73012035	G	C	73012035	3	2	83	1	0	0	0	0	1	0	0	0	9675	1368	48	5	1514	5	MLXIPL	7	73012035	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	18394261	73012035	86126628	133	22016											
PCLO	27445	genome.wustl.edu	37	chr7	82467549	82467549	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccctctccctggaagaAggtacactttcacaaaaggg	12	9	8	12	0	2	1	1	0	1	1	3	2	2	2	2	3	2	1	2	3	6	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:82467549A>C	ENST00000333891.9	-	15	14544	c.14207T>G	c.(14206-14208)cTt>cGt	p.L4736R	PCLO_ENST00000423517.2_Missense_Mutation_p.L4736R|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCTGGAAGAAGGTACACTTT	0.333																																																	0													68	66	67					7																	82467549		1833	4076	5909	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14207T>G	7.37:g.82467549A>C	ENSP00000334319:p.Leu4736Arg			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.L4736R	ENST00000333891.9	37	c.14207	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646705	0.47258	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.74209	-0.82;-0.82	5.58	5.58	0.84498	.	.	.	.	.	D	0.87553	0.6206	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.89622	0.3849	9	0.87932	D	0	.	15.7636	0.78106	1.0:0.0:0.0:0.0	.	4736;4736;166;233	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	R	4736;4736;232	ENSP00000334319:L4736R;ENSP00000388393:L4736R	ENSP00000334319:L4736R	L	-	2	0	PCLO	82305485	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.596000	0.90844	2.105000	0.64084	0.533000	0.62120	CTT	PCLO	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000186472		0.333	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	69	0	A	NM_014510		82467549	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	55.88	15	19	SNP	1.000	C	C	82467549	A	C	82467549	3	2	83	1	0	0	0	0	1	0	0	0	11622	72	3	4	1282	4	PCLO	7	82467549	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	9455514	82467549	76671114	134	22017											
PCLO	27445	genome.wustl.edu	37	chr7	82581865	82581865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtgtaacttgcactagCtgtgcatgtgacaaaggtca	11	12	11	7	0	1	1	1	1	0	0	1	1	1	1	0	1	4	5	0	1	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:82581865C>T	ENST00000333891.9	-	5	8741	c.8404G>A	c.(8404-8406)Gct>Act	p.A2802T	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.A2802T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGCACTAGCTGTGCATGTG	0.463																																																	0													201	177	185					7																	82581865		2038	4185	6223	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8404G>A	7.37:g.82581865C>T	ENSP00000334319:p.Ala2802Thr			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.A2802T	ENST00000333891.9	37	c.8404	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	9.820	1.185494	0.21870	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17370	2.28;2.28	5.69	1.66	0.24008	.	.	.	.	.	T	0.10637	0.0260	N	0.21097	0.63	0.80722	D	1	B;B	0.20671	0.047;0.047	B;B	0.20184	0.028;0.019	T	0.11155	-1.0599	9	0.87932	D	0	.	6.0001	0.19515	0.0:0.4739:0.3139:0.2122	.	2802;2802	Q9Y6V0-5;Q9Y6V0-6	.;.	T	2733;2802;2802	ENSP00000334319:A2802T;ENSP00000388393:A2802T	ENSP00000334319:A2802T	A	-	1	0	PCLO	82419801	0.716000	0.27956	0.275000	0.24674	0.786000	0.44442	0.861000	0.27885	0.242000	0.21303	0.655000	0.94253	GCT	PCLO	-	NULL	ENSG00000186472		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	54	0	C	NM_014510		82581865	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.996	T	T	82581865	C	T	82581865	3	4	83	1	0	0	0	0	1	0	0	0	11622	797	28	3	7125	3	PCLO	7	82581865	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	114316	82581865	76556798	135	22018											
POT1	25913	genome.wustl.edu	37	chr7	124503636	124503636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaaagttccctcaaacGtcaaagatgcaaagccagag	15	6	7	13	1	2	2	2	0	0	2	4	2	4	2	3	0	3	2	3	0	4	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:124503636G>A	ENST00000357628.3	-	8	912	c.314C>T	c.(313-315)aCg>aTg	p.T105M	POT1_ENST00000393329.1_De_novo_Start_InFrame	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	105					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCCCTCAAACGTCAAAGATGC	0.398																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													116	112	113					7																	124503636		2203	4299	6502	SO:0001583	missense	0			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.314C>T	7.37:g.124503636G>A	ENSP00000350249:p.Thr105Met		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.T105M	ENST00000357628.3	37	c.314	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912248	0.72983	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T	0.47869	0.83	5.44	5.44	0.79542	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.161807	0.53938	D	0.000044	T	0.60753	0.2293	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58775	-0.7577	10	0.42905	T	0.14	.	11.6996	0.51562	0.0804:0.0:0.9196:0.0	.	105	Q9NUX5	POTE1_HUMAN	M	105;105;105;105;104	ENSP00000350249:T105M	ENSP00000265391:T104M	T	-	2	0	POT1	124290872	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.798000	0.62510	2.543000	0.85770	0.650000	0.86243	ACG	POT1	-	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	ENSG00000128513		0.398	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1		0	25	0	G			124503636	-1			no_errors	ENST00000357628	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	124503636	G	A	124503636	3	1	83	1	0	0	0	0	1	0	0	0	12299	1145	40	1	1638	1	POT1	7	124503636	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	41921771	124503636	34635027	136	22019											
RBM28	55131	genome.wustl.edu	37	chr7	127958055	127958055	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgttgttgatgaggcggagGgctttcagggcatgctcgtg	5	13	17	6	2	1	2	1	2	0	0	2	3	1	3	0	4	1	5	0	4	0	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:127958055G>T	ENST00000223073.2	-	15	1782	c.1668C>A	c.(1666-1668)gcC>gcA	p.A556A	RBM28_ENST00000415472.2_Silent_p.A415A|RBM28_ENST00000481788.1_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	556	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGAGGCGGAGGGCTTTCAGGG	0.542																																																	0													103	91	95					7																	127958055		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"RNA binding motif (RRM) containing"	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1668C>A	7.37:g.127958055G>T			A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A556	ENST00000223073.2	37	c.1668	CCDS5801.1	7																																																																																			RBM28	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000106344		0.542	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM28	HGNC	protein_coding	OTTHUMT00000349442.2	-	0	50	0	G	NM_018077		127958055	-1	tier1	-	no_errors	ENST00000223073	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T	T	127958055	G	T	127958055	2	4	83	1	0	0	0	0	0	0	0	1	13173	1219	43	3		3	RBM28	7	127958055	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3454419	127958055	31180608	137	22020											
OR2A2	442361	genome.wustl.edu	37	chr7	143807174	143807174	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctccttctaaggttgcccTtctgtgggccccgggatgtg	3	14	12	12	1	3	0	0	0	3	0	4	1	3	1	4	3	1	1	4	3	1	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:143807174T>G	ENST00000408979.2	+	1	568	c.499T>G	c.(499-501)Ttc>Gtc	p.F167V		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGTTGCCCTTCTGTGGGCC	0.527																																																	0													106	103	104					7																	143807174		1977	4168	6145	SO:0001583	missense	0				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"GPCR / Class A : Olfactory receptors"	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.499T>G	7.37:g.143807174T>G	ENSP00000386209:p.Phe167Val		B2RN85|Q8NGT6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F167V	ENST00000408979.2	37	c.499	CCDS43671.1	7	.	.	.	.	.	.	.	.	.	.	T	15.92	2.976675	0.53720	.	.	ENSG00000221989	ENST00000408979	T	0.00145	8.67	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35096	U	0.003446	T	0.00524	0.0017	M	0.91768	3.24	0.32112	N	0.589222	D	0.69078	0.997	D	0.69479	0.964	T	0.14643	-1.0465	10	0.66056	D	0.02	-33.4342	10.1929	0.43037	0.0:0.0:0.0:1.0	.	167	Q6IF42	OR2A2_HUMAN	V	167	ENSP00000386209:F167V	ENSP00000386209:F167V	F	+	1	0	OR2A2	143438107	0.829000	0.29322	0.997000	0.53966	0.740000	0.42216	1.771000	0.38542	1.576000	0.49790	0.418000	0.28097	TTC	OR2A2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221989		0.527	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A2	HGNC	protein_coding	OTTHUMT00000349978.1	-	0	88	0	T			143807174	1	tier1	-	no_errors	ENST00000408979	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.981	G	G	143807174	T	G	143807174	3	3	83	1	0	0	0	0	1	0	0	0	11016	1609	56	4	501	4	OR2A2	7	143807174	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	15849119	143807174	15331489	138	22021											
SSPO	23145	genome.wustl.edu	37	chr7	149511585	149511585	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctggtgcccgtggtcGgagtggacaatgtgctccca	6	8	17	10	2	0	0	0	0	0	0	2	3	1	3	2	6	2	2	2	6	1	0	rs562328149		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:149511585G>A	ENST00000378016.2	+	0	10245							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCGTGGTCGGAGTGGACAA	0.706													G|||	1	0.000199681	0	0	5008	,	,		15390	0		0	False		,,,				2504	0.001																0													14	17	16					7																	149511585		2042	4173	6215			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149511585G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.706	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	30	0	G			149511585	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	66.67	4	8	SNP	0.290	A	A	149511585	G	A	149511585	1	1	83	0	1	0	0	0	0	0	0	0	15236	1103	39	1		1	SSPO	7	149511585	RNA	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	5704411	149511585	9627078	139	22022											
ATG9B	285973	genome.wustl.edu	37	chr7	150714208	150714208	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagctgcatcttgttgtActcggccccagaggtgccca	7	9	12	13	1	1	1	0	0	1	1	2	1	1	1	3	3	4	5	3	3	1	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr7:150714208A>C	ENST00000377974.2	-	9	2279	c.2204T>G	c.(2203-2205)gTa>gGa	p.V735G	ATG9B_ENST00000444312.1_Missense_Mutation_p.V221G|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Missense_Mutation_p.V735G			Q674R7	ATG9B_HUMAN	autophagy related 9B	735					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCTTGTTGTACTCGGCCCCA	0.652																																																	0													19	26	24					7																	150714208		1932	4142	6074	SO:0001583	missense	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"nitric oxide synthase 3 antisense", "ATG9 autophagy related 9 homolog B (S. cerevisiae)"	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.2204T>G	7.37:g.150714208A>C	ENSP00000475005:p.Val735Gly		A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9	p.V735G	ENST00000377974.2	37	c.2204		7	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230674	0.58777	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	.	.	.	.	.	.	D	0.55605	0.972	P	0.55222	0.771	T	0.65224	-0.6220	7	0.25751	T	0.34	-8.0617	12.6029	0.56506	1.0:0.0:0.0:0.0	.	735	Q674R7	ATG9B_HUMAN	G	735;221;735	.	ENSP00000444232:V735G	V	-	2	0	AC010973.1	150345141	1.000000	0.71417	0.986000	0.45419	0.957000	0.61999	9.226000	0.95229	1.854000	0.53819	0.402000	0.26972	GTA	ATG9B	-	NULL	ENSG00000181652		0.652	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding		-	0	69	0	A	NM_173681		150714208	-1	tier1	-	no_errors	ENST00000377974	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	C	C	150714208	A	C	150714208	3	2	83	1	0	0	0	0	1	0	0	0	1104	391	14	4	589	4	ATG9B	7	150714208	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	1202623	150714208	8424455	140	22023											
MSRA	4482	genome.wustl.edu	37	chr8	10159088	10159088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgagtggtgtaccagccaGaacacatgagttttgaggaa	12	9	12	8	1	0	3	0	2	0	1	1	5	1	4	3	2	3	2	3	2	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:10159088G>A	ENST00000317173.4	+	4	625	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	MSRA_ENST00000382490.5_Missense_Mutation_p.E83K|MSRA_ENST00000518255.1_Missense_Mutation_p.E126K|MSRA_ENST00000528246.1_Missense_Mutation_p.E60K|MSRA_ENST00000441698.2_Missense_Mutation_p.E86K	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	126					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	GTACCAGCCAGAACACATGAG	0.423																																					NSCLC(88;1378 1469 30580 49103 52286)												0													124	125	124					8																	10159088		2203	4300	6503	SO:0001583	missense	0			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.376G>A	8.37:g.10159088G>A	ENSP00000313921:p.Glu126Lys		E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA	p.E126K	ENST00000317173.4	37	c.376	CCDS5975.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.21|10.21	1.286251|1.286251	0.23478|0.23478	.|.	.|.	ENSG00000175806|ENSG00000175806	ENST00000317173;ENST00000441698;ENST00000518255;ENST00000522907;ENST00000528246;ENST00000382490|ENST00000521686	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.355468|.	0.34879|.	N|.	0.003620|.	T|T	0.30634|0.30634	0.0771|0.0771	N|N	0.03983|0.03983	-0.305|-0.305	0.33701|0.33701	D|D	0.614556|0.614556	B;B;B;B|.	0.23990|.	0.005;0.095;0.002;0.006|.	B;B;B;B|.	0.22753|.	0.002;0.041;0.002;0.012|.	T|T	0.41556|0.41556	-0.9502|-0.9502	8|5	.|.	.|.	.|.	-15.7183|-15.7183	15.952|15.952	0.79846|0.79846	0.0:0.1347:0.8653:0.0|0.0:0.1347:0.8653:0.0	.|.	83;86;83;126|.	B7Z694;Q9UJ68-4;Q9UJ68-3;Q9UJ68|.	.;.;.;MSRA_HUMAN|.	K|K	126;86;126;60;60;83|15	.|.	.|.	E|R	+|+	1|2	0|0	MSRA|MSRA	10196498|10196498	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	6.163000|6.163000	0.71880|0.71880	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	GAA|AGA	MSRA	-	pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA	ENSG00000175806		0.423	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRA	HGNC	protein_coding	OTTHUMT00000207005.1	-	0	70	0	G	NM_012331		10159088	1	tier1	-	no_errors	ENST00000317173	ensembl	human	known	74_37	missense	26.67	44	16	SNP	1.000	A	A	10159088	G	A	10159088	3	1	83	1	0	0	0	0	1	0	0	0	9925	943	33	3	407	3	MSRA	8	10159088	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		10159088	136204934	141	22024											
USP17L2	377630	genome.wustl.edu	37	chr8	11994772	11994772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagggtgccagtgttcaCggactcctgatctgtccggg	6	9	15	11	3	2	1	1	1	1	0	4	3	4	2	3	3	2	1	3	3	0	1	rs199889083	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:11994772C>T	ENST00000333796.3	-	1	1814	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	500	Mediates interaction with SUDS3.			V -> M (in Ref. 1; AAR91701). {ECO:0000305}.	apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCAGTGTTCACGGACTCCTGA	0.512													T|||	7	0.00139776	0.0038	0	5008	,	,		20725	0.001		0.001	False		,,,				2504	0																0								T	MET/VAL	18,2818		4,10,1404	69	77	75		1498	-0.8	0	8	dbSNP_134	75	7,5999		0,7,2996	no	missense	USP17L2	NM_201402.2	21	4,17,4400	TT,TC,CC		0.1166,0.6347,0.2827	benign	500/531	11994772	25,8817	1418	3003	4421	SO:0001583	missense	0			BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"deubiquitinating enzyme 3"	610186	"ubiquitin specific peptidase 17-like 2"				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.1498G>A	8.37:g.11994772C>T	ENSP00000333329:p.Val500Met			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67	p.V500M	ENST00000333796.3	37	c.1498	CCDS43713.1	8	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.113402	0.00032	0.006347	0.001166	ENSG00000223443	ENST00000333796	T	0.12774	2.65	0.418	-0.836	0.10770	.	4.360810	0.00725	N	0.000903	T	0.05593	0.0147	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23547	-1.0185	8	0.29301	T	0.29	.	.	.	.	.	500	Q6R6M4	U17L2_HUMAN	M	500	ENSP00000333329:V500M	ENSP00000333329:V500M	V	-	1	0	USP17L2	12032181	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.278000	0.02809	-1.803000	0.01242	-1.931000	0.00510	GTG	USP17L2	-	NULL	ENSG00000223443		0.512	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP17L2	HGNC	protein_coding	OTTHUMT00000383303.2	-	0	122	0	C	NM_201402		11994772	-1	tier1	rs199889083	no_errors	ENST00000333796	ensembl	human	known	74_37	missense	65.62	33	63	SNP	0.000	T	T	11994772	C	T	11994772	3	4	83	1	0	0	0	0	1	0	0	0	17097	536	19	1	98	1	USP17L2	8	11994772	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	1835684	11994772	134369250	142	22025											
C8orf79	57604	genome.wustl.edu	37	chr8	12878968	12878968	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctttggatgaatcgacTctgaggaagcaaattgaaag	15	10	11	5	1	2	4	0	3	2	1	3	7	2	6	0	2	1	1	0	2	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:12878968T>C	ENST00000524591.2	+	5	1269	c.780T>C	c.(778-780)acT>acC	p.T260T	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	260							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATGAATCGACTCTGAGGAAGC	0.408																																																	0													84	79	81					8																	12878968		1857	4098	5955	SO:0001819	synonymous_variant	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"chromosome 8 open reading frame 79"	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.780T>C	8.37:g.12878968T>C			Q96AW6	Silent	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.T260	ENST00000524591.2	37	c.780	CCDS47808.1	8																																																																																			KIAA1456	-	NULL	ENSG00000250305		0.408	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1456	HGNC	protein_coding	OTTHUMT00000383262.2	-	0	28	0	T	NM_001099677		12878968	1	tier1	-	no_errors	ENST00000524591	ensembl	human	known	74_37	silent	33.33	16	8	SNP	0.049	C	C	12878968	T	C	12878968	2	2	83	1	0	0	0	0	0	0	0	1	2445	1538	54	4		4	C8orf79	8	12878968	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	884196	12878968	133485054	143	22026											
NAT2	10	genome.wustl.edu	37	chr8	18258116	18258116	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacctcgaacaattgaagaTtttgagtctatgaatacata	16	12	7	6	1	1	4	0	3	1	1	2	6	1	4	1	0	3	0	1	0	8	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:18258116T>C	ENST00000286479.3	+	2	710	c.603T>C	c.(601-603)gaT>gaC	p.D201D	NAT2_ENST00000520116.1_Silent_p.D71D	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	201					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	CAATTGAAGATTTTGAGTCTA	0.353									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													92	97	96					8																	18258116		2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.603T>C	8.37:g.18258116T>C			O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.D201	ENST00000286479.3	37	c.603	CCDS6008.1	8																																																																																			NAT2	-	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	ENSG00000156006		0.353	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT2	HGNC	protein_coding	OTTHUMT00000253380.1	-	0	56	0	T	NM_000015		18258116	1	tier1	-	no_errors	ENST00000286479	ensembl	human	known	74_37	silent	30.61	34	15	SNP	0.980	C	C	18258116	T	C	18258116	2	2	83	1	0	0	0	0	0	0	0	1	10215	1490	52	4		4	NAT2	8	18258116	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	5379148	18258116	128105906	144	22027											
KIF13B	23303	genome.wustl.edu	37	chr8	28929564	28929564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggctcggcctcaggggcGgtgggcatggaccccggcgg	3	5	20	13	5	1	0	1	0	0	0	3	1	1	1	3	9	0	2	3	9	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:28929564G>A	ENST00000524189.1	-	39	4829	c.4791C>T	c.(4789-4791)acC>acT	p.T1597T	KIF13B_ENST00000404075.3_Silent_p.T116T	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1597					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTCAGGGGCGGTGGGCATGG	0.781																																																	0													1	2	1					8																	28929564		991	2402	3393	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.4791C>T	8.37:g.28929564G>A			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T1597	ENST00000524189.1	37	c.4791	CCDS55217.1	8																																																																																			KIF13B	-	NULL	ENSG00000197892		0.781	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1		0	10	0	G			28929564	-1			no_errors	ENST00000524189	ensembl	human	known	74_37	silent	66.67	1	2	SNP	0.173	A	A	28929564	G	A	28929564	2	1	83	1	0	0	0	0	0	0	0	1	8302	1103	39	1		1	KIF13B	8	28929564	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	10671448	28929564	117434458	145	22028											
WWP1	11059	genome.wustl.edu	37	chr8	87460711	87460711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggaggttccaatattctgGtgactgaggagaacaaagat	13	10	13	5	0	1	4	0	2	1	2	2	6	2	5	1	4	1	1	1	4	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:87460711G>T	ENST00000517970.1	+	20	2549	c.2242G>T	c.(2242-2244)Gtg>Ttg	p.V748L	WWP1_ENST00000265428.4_Missense_Mutation_p.V748L|WWP1_ENST00000349423.2_Missense_Mutation_p.V530L|WWP1_ENST00000341922.2_Missense_Mutation_p.V618L	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	748	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CAATATTCTGGTGACTGAGGA	0.368																																																	0													98	91	94					8																	87460711		2203	4300	6503	SO:0001583	missense	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2242G>T	8.37:g.87460711G>T	ENSP00000427793:p.Val748Leu		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.V748L	ENST00000517970.1	37	c.2242	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034045	0.93575	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.37	5.37	0.77165	HECT (4);	0.000000	0.85682	D	0.000000	D	0.88138	0.6356	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89206	0.3561	10	0.59425	D	0.04	.	19.106	0.93294	0.0:0.0:1.0:0.0	.	748	Q9H0M0	WWP1_HUMAN	L	748;748;618;530	ENSP00000427793:V748L;ENSP00000265428:V748L;ENSP00000340564:V618L;ENSP00000342665:V530L	ENSP00000265428:V748L	V	+	1	0	WWP1	87529827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.700000	0.98707	2.522000	0.85027	0.563000	0.77884	GTG	WWP1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000123124		0.368	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0	34	0	G	NM_007013		87460711	1			no_errors	ENST00000265428	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	87460711	G	T	87460711	3	4	83	1	0	0	0	0	1	0	0	0	17464	1261	44	3	2312	3	WWP1	8	87460711	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	58531147	87460711	58903311	146	22029											
MMP16	4325	genome.wustl.edu	37	chr8	89339413	89339413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaatccaaccgtcttccaGtgctgaatgtgagtaagatc	12	10	9	10	2	1	3	0	2	1	1	4	4	3	3	3	0	2	2	3	0	4	2	rs199761222		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:89339413G>C	ENST00000286614.6	-	1	304	c.23C>G	c.(22-24)aCt>aGt	p.T8S	RP11-586K2.1_ENST00000520849.1_RNA|RP11-586K2.1_ENST00000523254.1_RNA|RP11-586K2.1_ENST00000521433.1_RNA|MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	8					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CCGTCTTCCAGTGCTGAATGT	0.493																																																	0													175	154	161					8																	89339413		2203	4300	6503	SO:0001583	missense	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"matrix metalloproteinase 16 (membrane-inserted)", "chromosome 8 open reading frame 57"	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.23C>G	8.37:g.89339413G>C	ENSP00000286614:p.Thr8Ser		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.T8S	ENST00000286614.6	37	c.23	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	G	13.84	2.358520	0.41801	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.49432	2.48;0.78	5.44	4.56	0.56223	.	0.259999	0.36740	N	0.002429	T	0.26629	0.0651	N	0.08118	0	0.26033	N	0.981716	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.0	T	0.12863	-1.0531	10	0.17832	T	0.49	.	12.424	0.55536	0.0781:0.0:0.9219:0.0	.	8;8	P51512-2;P51512	.;MMP16_HUMAN	S	8;25	ENSP00000286614:T8S;ENSP00000429147:T25S	ENSP00000286614:T8S	T	-	2	0	MMP16	89408529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.740000	0.62087	1.273000	0.44346	0.563000	0.77884	ACT	MMP16	-	pirsf_Pept_M10A_Metazoans	ENSG00000156103		0.493	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	-	0	71	0	G	NM_005941		89339413	-1	tier1	-	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	27.59	42	16	SNP	1.000	C	C	89339413	G	C	89339413	3	2	83	1	0	0	0	0	1	0	0	0	9693	1029	36	5	1996	5	MMP16	8	89339413	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1878702	89339413	57024609	147	22030											
DECR1	1666	genome.wustl.edu	37	chr8	91057130	91057130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaaagaaatgattggCagaattccctgtggtcgcct	11	12	11	7	1	0	4	0	2	0	3	2	5	1	4	2	2	0	1	2	2	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:91057130C>T	ENST00000220764.2	+	8	880	c.792C>T	c.(790-792)ggC>ggT	p.G264G	DECR1_ENST00000522161.1_Silent_p.G255G	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	264					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			AAATGATTGGCAGAATTCCCT	0.428																																																	0													167	157	160					8																	91057130		2203	4300	6503	SO:0001819	synonymous_variant	0			L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	2753	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 18C, member 1"	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.792C>T	8.37:g.91057130C>T			B7Z6B8|Q2M304|Q93085	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	p.G264	ENST00000220764.2	37	c.792	CCDS6250.1	8																																																																																			DECR1	-	NULL	ENSG00000104325		0.428	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DECR1	HGNC	protein_coding	OTTHUMT00000375822.1	-	0	97	0	C			91057130	1	tier1	-	no_errors	ENST00000220764	ensembl	human	known	74_37	silent	18.07	68	15	SNP	0.095	T	T	91057130	C	T	91057130	2	4	83	1	0	0	0	0	0	0	0	1	4391	697	25	3		3	DECR1	8	91057130	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	1717717	91057130	55306892	148	22031											
CSMD3	114788	genome.wustl.edu	37	chr8	113421171	113421171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggatcctgagagggaaGataacagagaagattgctga	16	7	14	4	0	0	5	0	2	0	4	1	9	1	7	1	2	2	1	1	2	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:113421171G>T	ENST00000297405.5	-	33	5730	c.5486C>A	c.(5485-5487)tCt>tAt	p.S1829Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.S1789Y|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1725Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1829	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1829F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGAGGGAAGATAACAGAGA	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							1	Substitution - Missense(1)	lung(1)											179	171	174					8																	113421171		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5486C>A	8.37:g.113421171G>T	ENSP00000297405:p.Ser1829Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S1829Y	ENST00000297405.5	37	c.5486	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	g	18.07	3.541408	0.65085	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	T;T;T	0.18657	2.2;2.2;2.2	5.06	5.06	0.68205	CUB (5);	0.081179	0.50627	D	0.000103	T	0.43144	0.1234	L	0.60957	1.885	0.80722	D	1	D;P;D	0.62365	0.991;0.933;0.982	D;P;D	0.67382	0.926;0.866;0.951	T	0.11690	-1.0577	10	0.42905	T	0.14	.	18.6107	0.91284	0.0:0.0:1.0:0.0	.	1725;1829;1789	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1789;1829;1725	ENSP00000345799:S1789Y;ENSP00000297405:S1829Y;ENSP00000412263:S1725Y	ENSP00000297405:S1829Y	S	-	2	0	CSMD3	113490347	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.329000	0.72920	2.630000	0.89119	0.586000	0.80456	TCT	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	35	0	G	NM_052900		113421171	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	T	T	113421171	G	T	113421171	3	4	83	1	0	0	0	0	1	0	0	0	3955	942	33	3	5793	3	CSMD3	8	113421171	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	22364041	113421171	32942851	149	22032											
CSMD3	114788	genome.wustl.edu	37	chr8	114326842	114326842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggatgtccatcatataatGataagtagtcgtattcttct	12	15	8	6	1	3	1	1	1	2	0	5	3	4	2	1	1	0	2	1	1	5	7			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:114326842G>A	ENST00000297405.5	-	2	603	c.359C>T	c.(358-360)tCa>tTa	p.S120L	CSMD3_ENST00000343508.3_Missense_Mutation_p.S80L|CSMD3_ENST00000352409.3_Missense_Mutation_p.S120L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S120L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	120	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATATAATGATAAGTAGTC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													133	127	129					8																	114326842		2203	4299	6502	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.359C>T	8.37:g.114326842G>A	ENSP00000297405:p.Ser120Leu		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S120L	ENST00000297405.5	37	c.359	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623109	0.66901	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.72	5.72	0.89469	CUB (5);	0.000000	0.64402	D	0.000012	T	0.36826	0.0981	L	0.44542	1.39	0.39160	D	0.962387	B;D;D;D;B	0.65815	0.426;0.965;0.995;0.985;0.234	B;P;D;D;B	0.72338	0.199;0.647;0.928;0.977;0.272	T	0.06734	-1.0810	10	0.72032	D	0.01	.	18.8756	0.92334	0.0:0.0:1.0:0.0	.	120;120;120;120;80	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407;Q7Z407-2	.;.;.;CSMD3_HUMAN;.	L	80;120;120;120	ENSP00000345799:S80L;ENSP00000297405:S120L;ENSP00000412263:S120L;ENSP00000343124:S120L	ENSP00000297405:S120L	S	-	2	0	CSMD3	114396018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.823000	0.75282	2.697000	0.92050	0.557000	0.71058	TCA	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	51	0	G	NM_052900		114326842	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	A	A	114326842	G	A	114326842	3	1	83	1	0	0	0	0	1	0	0	0	3955	1294	45	3	11044	3	CSMD3	8	114326842	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	905671	114326842	32037180	150	22033											
POU5F1B	5462	genome.wustl.edu	37	chr8	128428446	128428446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactccaatggggcctcccCggaaccctgcaccgtccccc	7	5	8	21	2	0	0	0	0	0	0	3	1	3	1	8	3	3	1	8	3	3	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:128428446C>T	ENST00000465342.2	+	2	1492	c.335C>T	c.(334-336)cCg>cTg	p.P112L	CASC8_ENST00000502082.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P112L|CASC8_ENST00000501396.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GGGGCCTCCCCGGAACCCTGC	0.612																																																	0													7	7	7					8																	128428446		691	1585	2276	SO:0001583	missense	0			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.335C>T	8.37:g.128428446C>T	ENSP00000419298:p.Pro112Leu		D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P112L	ENST00000465342.2	37	c.335	CCDS55274.1	8	.	.	.	.	.	.	.	.	.	.	C	8.716	0.913210	0.17907	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.23147	1.92;1.92	1.43	0.362	0.16113	.	0.000000	0.40385	N	0.001114	T	0.16041	0.0386	L	0.38531	1.155	0.09310	N	1	B	0.25105	0.118	B	0.21546	0.035	T	0.14615	-1.0466	10	0.37606	T	0.19	.	6.4495	0.21896	0.2899:0.7101:0.0:0.0	.	112	Q06416	P5F1B_HUMAN	L	112	ENSP00000419298:P112L;ENSP00000375557:P112L	ENSP00000375557:P112L	P	+	2	0	POU5F1B	128497628	0.096000	0.21769	0.001000	0.08648	0.112000	0.19704	1.902000	0.39848	0.116000	0.18110	0.121000	0.15741	CCG	POU5F1B	-	NULL	ENSG00000212993		0.612	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	-	0	113	0	C	NM_001159542		128428446	1	tier1	-	no_errors	ENST00000391675	ensembl	human	known	74_37	missense	37.61	73	44	SNP	0.094	T	T	128428446	C	T	128428446	3	4	83	1	0	0	0	0	1	0	0	0	12321	652	23	1	337	1	POU5F1B	8	128428446	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	14101604	128428446	17935576	151	22034											
ADCY8	114	genome.wustl.edu	37	chr8	131859748	131859748	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggtatcgacttgtcaaaAtcacaccacagctgcggatt	13	9	9	10	2	2	0	2	0	0	0	3	2	2	1	1	2	2	2	1	2	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:131859748A>C	ENST00000286355.5	-	11	4516	c.2424T>G	c.(2422-2424)gaT>gaG	p.D808E	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	808					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTTGTCAAAATCACACCACA	0.398										HNSCC(32;0.087)																																							0													60	59	59					8																	131859748		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2424T>G	8.37:g.131859748A>C	ENSP00000286355:p.Asp808Glu			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D808E	ENST00000286355.5	37	c.2424	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	A	15.62	2.888591	0.52014	.	.	ENSG00000155897	ENST00000286355	T	0.42900	0.96	6.06	4.91	0.64330	.	0.210156	0.47093	D	0.000247	T	0.30510	0.0767	L	0.47716	1.5	0.80722	D	1	B	0.30439	0.279	B	0.24155	0.051	T	0.06734	-1.0810	10	0.09590	T	0.72	.	10.9357	0.47243	0.9278:0.0:0.0722:0.0	.	808	P40145	ADCY8_HUMAN	E	808	ENSP00000286355:D808E	ENSP00000286355:D808E	D	-	3	2	ADCY8	131928930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.368000	0.59505	2.324000	0.78689	0.533000	0.62120	GAT	ADCY8	-	NULL	ENSG00000155897		0.398	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	63	0	A			131859748	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	24.59	46	15	SNP	1.000	C	C	131859748	A	C	131859748	3	2	83	1	0	0	0	0	1	0	0	0	300	98	4	4	1363	4	ADCY8	8	131859748	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	3431302	131859748	14504274	152	22035											
TG	7038	genome.wustl.edu	37	chr8	133935598	133935598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggtgtcactgactgtcAgaggaacgaagcaggcctgc	10	8	13	10	1	3	2	2	1	1	1	3	4	3	3	1	3	3	1	1	3	3	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:133935598A>T	ENST00000220616.4	+	22	4584	c.4544A>T	c.(4543-4545)cAg>cTg	p.Q1515L	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1515	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTGACTGTCAGAGGAACGAA	0.557																																																	0													88	80	83					8																	133935598		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4544A>T	8.37:g.133935598A>T	ENSP00000220616:p.Gln1515Leu		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.Q1515L	ENST00000220616.4	37	c.4544	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700138	0.68501	.	.	ENSG00000042832	ENST00000543313;ENST00000220616	D	0.96992	-4.2	4.63	4.63	0.57726	Thyroglobulin type-1 (2);	0.119370	0.37437	N	0.002096	D	0.96959	0.9007	M	0.76002	2.32	0.80722	D	1	D	0.64830	0.994	P	0.57911	0.829	D	0.97012	0.9737	10	0.87932	D	0	.	10.4227	0.44359	1.0:0.0:0.0:0.0	.	1515	P01266	THYG_HUMAN	L	321;1515	ENSP00000220616:Q1515L	ENSP00000220616:Q1515L	Q	+	2	0	TG	134004780	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	5.260000	0.65490	1.733000	0.51620	0.454000	0.30748	CAG	TG	-	superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	108	0	A	NM_003235		133935598	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	27.85	57	22	SNP	1.000	T	T	133935598	A	T	133935598	3	4	83	1	0	0	0	0	1	0	0	0	15860	188	7	5	4630	5	TG	8	133935598	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	2075850	133935598	12428424	153	22036											
PLEC	5339	genome.wustl.edu	37	chr8	145001217	145001217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccaccggctcaagctgCgccttgtacgtcaccagctg	7	7	12	15	3	2	0	2	0	0	0	2	1	2	0	4	2	4	4	4	2	2	2	rs374669316		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:145001217C>T	ENST00000322810.4	-	29	4453	c.4284G>A	c.(4282-4284)gcG>gcA	p.A1428A	PLEC_ENST00000398774.2_Silent_p.A1259A|PLEC_ENST00000436759.2_Silent_p.A1318A|PLEC_ENST00000527096.1_Silent_p.A1314A|PLEC_ENST00000345136.3_Silent_p.A1291A|PLEC_ENST00000354589.3_Silent_p.A1291A|PLEC_ENST00000357649.2_Silent_p.A1295A|PLEC_ENST00000354958.2_Silent_p.A1269A|PLEC_ENST00000356346.3_Silent_p.A1277A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1428	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCAAGCTGCGCCTTGTACG	0.637																																																	0								C	,,,,,,,	1,4183		0,1,2091	58	63	62		3954,3831,3807,4284,3777,3873,3885,3873	-9.9	0.3	8		62	0,8434		0,0,4217	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,1,6308	TT,TC,CC		0.0,0.0239,0.0079	,,,,,,,	1318/4575,1277/4534,1269/4526,1428/4685,1259/4516,1291/4548,1295/4552,1291/4548	145001217	1,12617	2092	4217	6309	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.4284G>A	8.37:g.145001217C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A1428	ENST00000322810.4	37	c.4284	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin	ENSG00000178209		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	52	0	C	NM_000445		145001217	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.005	T	T	145001217	C	T	145001217	2	4	83	1	0	0	0	0	0	0	0	1	12091	755	27	1		1	PLEC	8	145001217	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	11065619	145001217	1362805	154	22037											
KIFC2	90990	genome.wustl.edu	37	chr8	145692681	145692681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcaggccctgctccaGgggactcagccagcccctcg	6	4	15	16	1	1	0	1	0	0	0	3	2	2	2	5	5	3	2	5	5	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr8:145692681G>T	ENST00000301332.2	+	4	803	c.426G>T	c.(424-426)caG>caT	p.Q142H	CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000306145.5_5'Flank|CYHR1_ENST00000403000.2_5'Flank|KIFC2_ENST00000301331.5_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	142					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCCTGCTCCAGGGGACTCAGC	0.617											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42	51	48					8																	145692681		2202	4299	6501	SO:0001583	missense	0			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"Kinesins"	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.426G>T	8.37:g.145692681G>T	ENSP00000301332:p.Gln142His	1696	E9PHB2|Q96NN6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.Q142H	ENST00000301332.2	37	c.426	CCDS6427.1	8	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478261	0.63849	.	.	ENSG00000167702	ENST00000301332	T	0.49432	0.78	4.94	3.14	0.36123	.	0.000000	0.32401	N	0.006148	T	0.52403	0.1732	L	0.29908	0.895	0.58432	D	0.999993	D	0.69078	0.997	D	0.77557	0.99	T	0.51116	-0.8746	10	0.62326	D	0.03	-13.4124	9.0561	0.36405	0.1826:0.0:0.8174:0.0	.	142	Q96AC6	KIFC2_HUMAN	H	142	ENSP00000301332:Q142H	ENSP00000301332:Q142H	Q	+	3	2	KIFC2	145663489	0.302000	0.24454	0.432000	0.26747	0.865000	0.49528	0.746000	0.26275	0.601000	0.29879	0.563000	0.77884	CAG	KIFC2	-	NULL	ENSG00000167702		0.617	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	-	0	100	0	G	NM_145754		145692681	1	tier1	-	no_errors	ENST00000301332	ensembl	human	known	74_37	missense	28.17	51	20	SNP	0.356	T	T	145692681	G	T	145692681	3	4	83	1	0	0	0	0	1	0	0	0	8340	991	35	3	440	3	KIFC2	8	145692681	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	691464	145692681	671341	155	22038											
KANK1	23189	genome.wustl.edu	37	chr9	730236	730236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagacgaccagatcgccGctggcctctatggtaacttt	9	10	10	12	3	1	3	0	1	1	2	2	4	1	3	3	2	1	2	3	2	2	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:730236G>A	ENST00000382303.1	+	8	3536	c.2884G>A	c.(2884-2886)Gct>Act	p.A962T	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A804T|KANK1_ENST00000382297.2_Missense_Mutation_p.A962T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	962					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCAGATCGCCGCTGGCCTCTA	0.502																																																	0													57	52	54					9																	730236		2203	4300	6503	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2884G>A	9.37:g.730236G>A	ENSP00000371740:p.Ala962Thr		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A962T	ENST00000382303.1	37	c.2884	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	8.063	0.768484	0.15983	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.16196	2.36;2.36;2.36	5.91	-1.48	0.08745	.	0.481200	0.19440	N	0.114216	T	0.05456	0.0144	N	0.12182	0.205	0.32760	N	0.505207	B;B	0.15473	0.013;0.001	B;B	0.06405	0.002;0.001	T	0.33803	-0.9854	10	0.10636	T	0.68	-1.8866	0.9588	0.01391	0.2597:0.1059:0.2192:0.4152	.	962;962	Q5W0W1;Q14678	.;KANK1_HUMAN	T	962;962;962;804	ENSP00000371740:A962T;ENSP00000371734:A962T;ENSP00000371730:A804T	ENSP00000346479:A962T	A	+	1	0	KANK1	720236	0.004000	0.15560	0.007000	0.13788	0.866000	0.49608	0.072000	0.14617	-0.220000	0.09988	-0.123000	0.14984	GCT	KANK1	-	smart_Ankyrin_rpt	ENSG00000107104		0.502	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0	65	0	G	NM_015158		730236	1			no_errors	ENST00000382297	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.017	A	A	730236	G	A	730236	3	1	83	1	0	0	0	0	1	0	0	0	8003	1087	38	1	2894	1	KANK1	9	730236	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		730236	140483195	156	22039											
TTC39B	158219	genome.wustl.edu	37	chr9	15175077	15175077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttttatacaaagatGccaattcaaatagagtgaac	15	11	7	8	0	1	3	1	1	0	2	1	3	1	3	2	1	3	1	2	1	7	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:15175077G>A	ENST00000512701.2	-	19	1934	c.1898C>T	c.(1897-1899)gCa>gTa	p.A633V	TTC39B_ENST00000380850.4_Missense_Mutation_p.A620V|TTC39B_ENST00000355694.2_Missense_Mutation_p.A567V|TTC39B_ENST00000507993.1_Missense_Mutation_p.A468V|TTC39B_ENST00000297615.5_Missense_Mutation_p.A564V|TTC39B_ENST00000507285.1_Missense_Mutation_p.A468V			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	633										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATACAAAGATGCCAATTCAAA	0.393																																																	0													113	107	109					9																	15175077		2203	4300	6503	SO:0001583	missense	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1898C>T	9.37:g.15175077G>A	ENSP00000422496:p.Ala633Val		A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.A633V	ENST00000512701.2	37	c.1898	CCDS6477.2	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167715	0.78339	.	.	ENSG00000155158	ENST00000380850;ENST00000297615;ENST00000355694;ENST00000512701;ENST00000507285;ENST00000507993	T;T;T;T;T;T	0.79845	-1.31;-0.35;-0.35;0.44;-0.35;-0.35	5.72	4.81	0.61882	Tetratricopeptide-like helical (1);	0.115878	0.56097	D	0.000021	D	0.86481	0.5943	L	0.57536	1.79	0.80722	D	1	D;P;D;D;P	0.67145	0.996;0.945;0.988;0.988;0.891	D;P;D;D;P	0.71656	0.931;0.722;0.974;0.974;0.671	D	0.87185	0.2230	10	0.87932	D	0	-15.3302	12.8454	0.57827	0.0:0.3769:0.6231:0.0	.	564;620;565;567;150	F5H705;E9PAQ9;A5PLN1;Q5VTQ0;Q8IXZ6	.;.;.;TT39B_HUMAN;.	V	620;564;567;633;468;468	ENSP00000370231:A620V;ENSP00000297615:A564V;ENSP00000347920:A567V;ENSP00000422496:A633V;ENSP00000426539:A468V;ENSP00000423392:A468V	ENSP00000297615:A564V	A	-	2	0	TTC39B	15165077	1.000000	0.71417	0.988000	0.46212	0.751000	0.42716	3.939000	0.56591	2.691000	0.91804	0.655000	0.94253	GCA	TTC39B	-	smart_TPR_repeat	ENSG00000155158		0.393	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	-	0	41	0	G	NM_152574		15175077	-1	tier1	-	no_errors	ENST00000512701	ensembl	human	known	74_37	missense	61.36	17	27	SNP	0.998	A	A	15175077	G	A	15175077	3	1	83	1	0	0	0	0	1	0	0	0	16757	1319	46	3	158	3	TTC39B	9	15175077	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	14444841	15175077	126038354	157	22040											
C9orf93	203238	genome.wustl.edu	37	chr9	15723679	15723679	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acagcatgaatgatgttaagGaaaaggcatgtaatgaactt	17	10	10	4	0	0	3	0	3	0	0	0	4	0	4	0	2	2	4	0	2	6	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:15723679G>T	ENST00000380701.3	+	13	1754	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	CCDC171_ENST00000297641.3_Splice_Site_p.E476*	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	476																	TGATGTTAAGGAAAAGGCATG	0.274																																																	0													42	44	43					9																	15723679		2199	4259	6458	SO:0001630	splice_region_variant	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1426-1G>T	9.37:g.15723679G>T			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Nonsense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.E476*	ENST00000380701.3	37	c.1426	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	G	40	7.970291	0.98588	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	.	.	.	5.77	5.77	0.91146	.	0.214284	0.48286	D	0.000193	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-9.9634	13.1058	0.59247	0.0:0.0:0.8012:0.1988	.	.	.	.	X	476	.	ENSP00000297641:E476X	E	+	1	0	C9orf93	15713679	0.996000	0.38824	1.000000	0.80357	0.887000	0.51463	2.254000	0.43214	2.885000	0.99019	0.655000	0.94253	GAA	CCDC171	-	NULL	ENSG00000164989		0.274	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	-	0	92	0	G	NM_173550	Nonsense_Mutation	15723679	1	tier1	-	no_errors	ENST00000380701	ensembl	human	known	74_37	nonsense	5.43	87	5	SNP	0.976	T	T	15723679	G	T	15723679	5	4	83	1	0	0	0	0	0	0	1	0	2513	1188	41	3	1472	3	C9orf93	9	15723679	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	548602	15723679	125489752	158	22041											
KIF27	55582	genome.wustl.edu	37	chr9	86468750	86468750	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggaaaagaacatgttcttCctagatataacagaaatcac	17	11	6	7	0	2	3	1	0	1	3	3	4	3	4	1	1	2	1	1	1	7	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:86468750C>T	ENST00000297814.2	-	15	3294	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K	RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000334204.2_Splice_Site_p.E954K|KIF27_ENST00000413982.1_Splice_Site_p.E985K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1051					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ACATGTTCTTCCTAGATATAA	0.338																																																	0													41	42	42					9																	86468750		2203	4296	6499	SO:0001630	splice_region_variant	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3151-1G>A	9.37:g.86468750C>T			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1051K	ENST00000297814.2	37	c.3151	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238513	0.79800	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.79247	-1.01;-1.25;-1.01	4.22	4.22	0.49857	.	0.000000	0.64402	D	0.000018	D	0.87067	0.6085	M	0.70275	2.135	0.31899	N	0.616263	D;D;D	0.89917	0.995;1.0;0.997	P;D;D	0.91635	0.894;0.999;0.985	D	0.88720	0.3229	10	0.62326	D	0.03	.	16.7962	0.85602	0.0:1.0:0.0:0.0	.	954;985;1051	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	1051;985;954	ENSP00000297814:E1051K;ENSP00000401688:E985K;ENSP00000333928:E954K	ENSP00000297814:E1051K	E	-	1	0	KIF27	85658570	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	5.247000	0.65416	2.180000	0.69256	0.491000	0.48974	GAA	KIF27	-	NULL	ENSG00000165115		0.338	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	-	0	51	0	C	NM_017576	Missense_Mutation	86468750	-1	tier1	-	no_errors	ENST00000297814	ensembl	human	known	74_37	missense	23.29	56	17	SNP	1.000	T	T	86468750	C	T	86468750	5	4	83	1	0	0	0	0	0	0	1	0	8323	869	30	3	1070	3	KIF27	9	86468750	Splice_Site	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	70745071	86468750	54744681	159	22042											
COL15A1	1306	genome.wustl.edu	37	chr9	101785706	101785706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctctggctctggtgaccTggtgggcagtgagcagctgc	4	9	17	11	1	2	2	0	2	2	0	2	2	2	2	1	5	3	5	1	5	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:101785706T>C	ENST00000375001.3	+	14	2252	c.1829T>C	c.(1828-1830)cTg>cCg	p.L610P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	610	Nonhelical region 2 (NC2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCTGGTGACCTGGTGGGCAGT	0.592																																																	0													57	54	55					9																	101785706		2203	4300	6503	SO:0001583	missense	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1829T>C	9.37:g.101785706T>C	ENSP00000364140:p.Leu610Pro		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L610P	ENST00000375001.3	37	c.1829	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	T	5.799	0.331690	0.10956	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.90788	-2.73	3.63	1.19	0.21007	.	1.700530	0.03776	N	0.260606	D	0.85737	0.5766	L	0.46157	1.445	0.39166	D	0.962491	B	0.09022	0.002	B	0.08055	0.003	T	0.70978	-0.4725	10	0.26408	T	0.33	-0.1245	3.1302	0.06420	0.2064:0.1155:0.0:0.6781	.	610	P39059	COFA1_HUMAN	P	610;580	ENSP00000364140:L610P	ENSP00000364140:L610P	L	+	2	0	COL15A1	100825527	0.048000	0.20356	0.559000	0.28332	0.092000	0.18411	0.194000	0.17135	0.241000	0.21283	-0.695000	0.03696	CTG	COL15A1	-	NULL	ENSG00000204291		0.592	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0	31	0	T	NM_001855		101785706	1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.614	C	C	101785706	T	C	101785706	3	2	83	1	0	0	0	0	1	0	0	0	3679	1580	55	4	1883	4	COL15A1	9	101785706	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	15316956	101785706	39427725	160	22043											
BSPRY	54836	genome.wustl.edu	37	chr9	116116558	116116558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgagaggctgcagttacaGagtgctgccatcaccaagta	11	9	12	9	0	1	2	1	1	0	2	1	3	1	2	2	1	4	5	2	1	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:116116558G>C	ENST00000374183.4	+	2	279	c.240G>C	c.(238-240)caG>caC	p.Q80H	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	80					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGCAGTTACAGAGTGCTGCCA	0.527																																																	0													118	126	123					9																	116116558		2102	4236	6338	SO:0001583	missense	0			AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.240G>C	9.37:g.116116558G>C	ENSP00000363298:p.Gln80His		B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.Q80H	ENST00000374183.4	37	c.240	CCDS43868.1	9	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954382	0.53293	.	.	ENSG00000119411	ENST00000374183	T	0.62639	0.01	5.16	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.67552	0.2905	L	0.32530	0.975	0.35657	D	0.812208	D;D	0.76494	0.997;0.999	D;D	0.81914	0.995;0.921	T	0.71441	-0.4592	10	0.46703	T	0.11	-16.049	11.8184	0.52224	0.1571:0.0:0.8429:0.0	.	80;80	Q5W0U4-2;Q5W0U4	.;BSPRY_HUMAN	H	80	ENSP00000363298:Q80H	ENSP00000363298:Q80H	Q	+	3	2	BSPRY	115156379	1.000000	0.71417	0.999000	0.59377	0.938000	0.57974	1.873000	0.39558	0.211000	0.20683	-1.094000	0.02160	CAG	BSPRY	-	NULL	ENSG00000119411		0.527	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPRY	HGNC	protein_coding	OTTHUMT00000055399.1	-	0	57	0	G	NM_017688		116116558	1	tier1	-	no_errors	ENST00000374183	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	C	C	116116558	G	C	116116558	3	2	83	1	0	0	0	0	1	0	0	0	1536	933	33	5	246	5	BSPRY	9	116116558	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	14330852	116116558	25096873	161	22044											
TNC	3371	genome.wustl.edu	37	chr9	117786271	117786271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgactgtggttattgtccCcatatctccccatcaggttg	6	14	8	13	0	2	1	1	1	1	0	4	1	3	1	5	2	0	2	5	2	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:117786271C>A	ENST00000350763.4	-	27	6887	c.6476G>T	c.(6475-6477)gGg>gTg	p.G2159V	TNC_ENST00000341037.4_Missense_Mutation_p.G1977V|TNC_ENST00000346706.3_Missense_Mutation_p.G1613V|TNC_ENST00000345230.3_Missense_Mutation_p.G1522V|TNC_ENST00000542877.1_Missense_Mutation_p.G1796V|TNC_ENST00000423613.2_Missense_Mutation_p.G1886V|TNC_ENST00000340094.3_Missense_Mutation_p.G1795V|TNC_ENST00000537320.1_Missense_Mutation_p.G1522V|TNC_ENST00000535648.1_Missense_Mutation_p.G1704V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2159	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTTATTGTCCCCATATCTCCC	0.527																																																	0													187	155	166					9																	117786271		2203	4300	6503	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6476G>T	9.37:g.117786271C>A	ENSP00000265131:p.Gly2159Val		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G2159V	ENST00000350763.4	37	c.6476	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782153	0.90282	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.55	5.55	0.83447	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.90950	0.7155	M	0.84219	2.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91543	0.5251	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	1886;2159	E9PC84;P24821	.;TENA_HUMAN	V	1795;1704;1613;1522;2159;1977;1886;1522;1796	ENSP00000344400:G1795V;ENSP00000438152:G1704V;ENSP00000344555:G1613V;ENSP00000345861:G1522V;ENSP00000265131:G2159V;ENSP00000339553:G1977V;ENSP00000411406:G1886V;ENSP00000443478:G1522V;ENSP00000442242:G1796V	ENSP00000344400:G1795V	G	-	2	0	TNC	116826092	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.953000	0.70290	2.764000	0.94973	0.563000	0.77884	GGG	TNC	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000041982		0.527	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0	64	0	C	NM_002160		117786271	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	A	A	117786271	C	A	117786271	3	1	83	1	0	0	0	0	1	0	0	0	16317	623	22	3	137	3	TNC	9	117786271	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	1669713	117786271	23427160	162	22045											
CRB2	286204	genome.wustl.edu	37	chr9	126133620	126133620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtgatgctcagcttCgggcctgaccagctgcagga	7	8	13	13	1	1	2	1	2	0	0	2	3	1	3	3	3	4	4	3	3	0	1	rs376689681		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:126133620C>A	ENST00000373631.3	+	8	2200	c.2199C>A	c.(2197-2199)ttC>ttA	p.F733L	CRB2_ENST00000373629.2_Missense_Mutation_p.F401L|CRB2_ENST00000359999.3_Missense_Mutation_p.F733L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	733	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCTCAGCTTCGGGCCTGACC	0.692																																																	0													83	87	85					9																	126133620		2203	4299	6502	SO:0001583	missense	0			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.2199C>A	9.37:g.126133620C>A	ENSP00000362734:p.Phe733Leu		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F733L	ENST00000373631.3	37	c.2199	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	.	10.32	1.318847	0.23994	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.78246	-1.16;-1.16;-1.16	4.92	-9.31	0.00646	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.353251	0.21164	N	0.079114	T	0.50752	0.1634	L	0.28014	0.82	0.20196	N	0.999922	B;B	0.18741	0.006;0.03	B;B	0.21360	0.005;0.034	T	0.50004	-0.8878	10	0.11182	T	0.66	.	6.4793	0.22053	0.1865:0.4081:0.0:0.4053	.	733;733	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	733;733;401	ENSP00000353092:F733L;ENSP00000362734:F733L;ENSP00000362732:F401L	ENSP00000353092:F733L	F	+	3	2	CRB2	125173441	0.006000	0.16342	0.208000	0.23602	0.716000	0.41182	-0.613000	0.05610	-1.567000	0.01671	-0.253000	0.11424	TTC	CRB2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000148204		0.692	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	-	0	121	0	C	NM_173689		126133620	1	tier1	-	no_errors	ENST00000373631	ensembl	human	known	74_37	missense	35.77	79	44	SNP	0.002	A	A	126133620	C	A	126133620	3	1	83	1	0	0	0	0	1	0	0	0	3856	883	31	2	2229	2	CRB2	9	126133620	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	8347349	126133620	15079811	163	22046											
MAPKAP1	79109	genome.wustl.edu	37	chr9	128347859	128347859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcggctcccgtccttcgcTtgtatactgccagcagatga	6	12	9	14	3	0	2	0	1	0	1	4	2	2	2	3	1	3	4	3	1	2	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:128347859T>C	ENST00000373498.1	-	4	714	c.646A>G	c.(646-648)Agc>Ggc	p.S216G	MAPKAP1_ENST00000373497.5_Missense_Mutation_p.S24G|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.S216G|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S216G|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.S216G|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.S24G|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.S24G|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.S216G			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	216	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						CGTCCTTCGCTTGTATACTGC	0.547																																																	0													134	109	118					9																	128347859		2203	4300	6503	SO:0001583	missense	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.646A>G	9.37:g.128347859T>C	ENSP00000362597:p.Ser216Gly		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	pfam_SIN1	p.S216G	ENST00000373498.1	37	c.646	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	T	13.81	2.349291	0.41599	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373505;ENST00000373497;ENST00000420643;ENST00000394060;ENST00000427078;ENST00000468896	.	.	.	5.86	4.73	0.59995	.	0.075155	0.85682	D	0.000000	T	0.45716	0.1356	L	0.56769	1.78	0.26090	N	0.98096	B;B;B;B;B;B	0.32467	0.258;0.372;0.241;0.143;0.185;0.259	B;B;B;B;B;B	0.37267	0.093;0.08;0.116;0.133;0.108;0.245	T	0.35351	-0.9792	9	0.27785	T	0.31	-9.1436	11.2102	0.48793	0.0:0.0715:0.0:0.9285	.	24;216;216;216;216;216	B7Z5E5;Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;.;SIN1_HUMAN	G	216;216;24;216;216;24;218;24;24;216;24;117	.	ENSP00000265960:S216G	S	-	1	0	MAPKAP1	127387680	0.996000	0.38824	0.385000	0.26158	0.977000	0.68977	4.098000	0.57748	1.040000	0.40099	0.533000	0.62120	AGC	MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.547	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	-	0	76	0	T			128347859	-1	tier1	-	no_errors	ENST00000265960	ensembl	human	known	74_37	missense	20.97	49	13	SNP	0.795	C	C	128347859	T	C	128347859	3	2	83	1	0	0	0	0	1	0	0	0	9326	1609	56	4	972	4	MAPKAP1	9	128347859	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	2214239	128347859	12865572	164	22047											
GARNL3	84253	genome.wustl.edu	37	chr9	130106619	130106619	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtttgttagaatagggcagGtgggttttcttctgaaacct	9	15	12	5	0	2	2	0	1	2	1	2	2	2	2	1	3	1	4	1	3	4	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:130106619G>T	ENST00000373387.4	+	15	1708		c.e15+1		GARNL3_ENST00000435213.2_Splice_Site|GARNL3_ENST00000314904.5_Splice_Site	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AATAGGGCAGGTGGGTTTTCT	0.483																																																	0													99	114	109					9																	130106619		2203	4300	6503	SO:0001630	splice_region_variant	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 3"			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1356+1G>T	9.37:g.130106619G>T			B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Splice_Site	SNP	-	e15+1	ENST00000373387.4	37	c.1356+1	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410361	0.83340	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1276	0.89591	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GARNL3	129146440	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.338000	0.96553	2.615000	0.88500	0.563000	0.77884	.	GARNL3	-	-	ENSG00000136895		0.483	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	-	0	84	0	G	NM_032293	Intron	130106619	1	tier1	-	no_errors	ENST00000373387	ensembl	human	known	74_37	splice_site	39.06	39	25	SNP	1.000	T	T	130106619	G	T	130106619	5	4	83	1	0	0	0	0	0	0	1	0	6266	1275	44	3	1415	3	GARNL3	9	130106619	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1758760	130106619	11106812	165	22048											
SPTAN1	6709	genome.wustl.edu	37	chr9	131353868	131353868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatctcctggaggagcaagGcagcatagcactgcggcagg	11	5	15	10	1	1	0	0	0	1	0	2	3	1	2	1	5	4	5	1	5	3	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:131353868G>A	ENST00000372731.4	+	22	3229	c.3119G>A	c.(3118-3120)gGc>gAc	p.G1040D	SPTAN1_ENST00000372739.3_Missense_Mutation_p.G1040D|SPTAN1_ENST00000358161.5_Missense_Mutation_p.G1040D	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1040					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGGAGCAAGGCAGCATAGCA	0.582																																					NSCLC(120;833 1744 2558 35612 37579)												0													75	77	76					9																	131353868		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3119G>A	9.37:g.131353868G>A	ENSP00000361816:p.Gly1040Asp		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.G1040D	ENST00000372731.4	37	c.3119	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.176652	0.94846	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.50277	0.76;0.77;0.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.992;0.992;0.996;0.996;0.992	T	0.50294	-0.8845	10	0.20046	T	0.44	.	19.0792	0.93175	0.0:0.0:1.0:0.0	.	1040;1040;1040;1040;1040	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	D	1040	ENSP00000350882:G1040D;ENSP00000361816:G1040D;ENSP00000361824:G1040D	ENSP00000350882:G1040D	G	+	2	0	SPTAN1	130393689	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.238000	0.95380	2.755000	0.94549	0.591000	0.81541	GGC	SPTAN1	-	smart_Spectrin/alpha-actinin	ENSG00000197694		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	56	0	G	NM_003127		131353868	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	8.89	40	4	SNP	1.000	A	A	131353868	G	A	131353868	3	1	83	1	0	0	0	0	1	0	0	0	15164	1203	42	3	3201	3	SPTAN1	9	131353868	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1247249	131353868	9859563	166	22049											
SET	6418	genome.wustl.edu	37	chr9	131455942	131455942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgaaacgttcgagtcaaaCgcagaataaagccagcagga	17	4	11	9	4	1	1	1	0	0	1	2	5	1	2	1	1	4	3	1	1	5	2	rs150832256	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:131455942C>T	ENST00000372692.4	+	6	798	c.557C>T	c.(556-558)aCg>aTg	p.T186M	SET_ENST00000322030.8_Missense_Mutation_p.T173M|SET_ENST00000409104.3_Missense_Mutation_p.T164M|SET_ENST00000372688.4_Missense_Mutation_p.T162M|SET_ENST00000477806.1_3'UTR	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	186	Earmuff domain.				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TCGAGTCAAACGCAGAATAAA	0.418			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0								C	MET/THR,MET/THR	0,4406		0,0,2203	40	36	38		557,518	5.2	1	9	dbSNP_134	38	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense	SET	NM_001122821.1,NM_003011.3	81,81	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign,benign	186/291,173/278	131455942	6,13000	2203	4300	6503	SO:0001583	missense	0			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"protein phosphatase type 2A inhibitor", "Template-Activating Factor-I, chromatin remodelling factor"	600960	"SET translocation (myeloid leukemia-associated)"			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.557C>T	9.37:g.131455942C>T	ENSP00000361777:p.Thr186Met		A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	pfam_NAP_family	p.T186M	ENST00000372692.4	37	c.557	CCDS48037.1	9	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180713	0.57800	0.0	6.98E-4	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	N	0.25426	0.745	0.80722	D	1	P;B;B	0.34629	0.46;0.383;0.386	B;B;B	0.26094	0.066;0.062;0.064	T	0.03384	-1.1042	10	0.45353	T	0.12	.	17.7102	0.88319	0.0:1.0:0.0:0.0	.	162;173;186	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	M	186;164;173;162;161	ENSP00000361777:T186M;ENSP00000387321:T164M;ENSP00000318012:T173M;ENSP00000361773:T162M;ENSP00000361771:T161M	ENSP00000318012:T173M	T	+	2	0	SET	130495763	1.000000	0.71417	0.974000	0.42286	0.982000	0.71751	6.995000	0.76257	2.427000	0.82271	0.555000	0.69702	ACG	SET	-	pfam_NAP_family	ENSG00000119335		0.418	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	-	0	29	0	C	NM_001122821		131455942	1	tier1	rs150832256	no_errors	ENST00000372692	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T	T	131455942	C	T	131455942	3	4	83	1	0	0	0	0	1	0	0	0	14173	536	19	1	656	1	SET	9	131455942	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	102074	131455942	9757489	167	22050											
TMEM8C	389827	genome.wustl.edu	37	chr9	136385396	136385396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacaagccgggtccattGcaggcatggtggagctgcca	10	6	14	11	1	0	1	0	0	0	1	1	2	1	2	3	4	4	3	3	4	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:136385396G>A	ENST00000339996.3	-	2	251	c.150C>T	c.(148-150)tgC>tgT	p.C50C	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	50					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						CGGGTCCATTGCAGGCATGGT	0.602																																																	0													100	81	87					9																	136385396		2203	4300	6503	SO:0001819	synonymous_variant	0			BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"transmembrane protein 226"	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.150C>T	9.37:g.136385396G>A				Silent	SNP	pfam_DUF3522	p.C50	ENST00000339996.3	37	c.150	CCDS35170.1	9																																																																																			TMEM8C	-	pfam_DUF3522	ENSG00000187616		0.602	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM8C	HGNC	protein_coding	OTTHUMT00000356200.2	-	0	33	0	G	NM_001080483		136385396	-1	tier1	-	no_errors	ENST00000339996	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.763	A	A	136385396	G	A	136385396	2	1	83	1	0	0	0	0	0	0	0	1	16263	1311	46	3		3	TMEM8C	9	136385396	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	4929454	136385396	4828035	168	22051											
SEC16A	9919	genome.wustl.edu	37	chr9	139350129	139350129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccagcagagggttggcgatCcccagggctcctggctgact	6	7	15	13	1	0	2	0	1	0	1	2	3	2	2	4	4	1	4	4	4	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:139350129C>T	ENST00000371706.3	-	18	5280	c.5247G>A	c.(5245-5247)ggG>ggA	p.G1749G	SEC16A_ENST00000313050.7_Silent_p.G1927G|SEC16A_ENST00000431893.2_Silent_p.G1749G|SEC16A_ENST00000290037.6_Silent_p.G1749G			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1749					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTTGGCGATCCCCAGGGCTC	0.687																																																	0													18	25	23					9																	139350129		2113	4213	6326	SO:0001819	synonymous_variant	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5247G>A	9.37:g.139350129C>T			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.G1927	ENST00000371706.3	37	c.5781		9																																																																																			SEC16A	-	NULL	ENSG00000148396		0.687	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0	106	0	C	XM_088459		139350129	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	silent	36.13	76	43	SNP	0.000	T	T	139350129	C	T	139350129	2	4	83	1	0	0	0	0	0	0	0	1	14031	842	30	3		3	SEC16A	9	139350129	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	2964733	139350129	1863302	169	22052											
SEC16A	9919	genome.wustl.edu	37	chr9	139354317	139354317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatctccccatttctcgtCtccacagcactaacatgagg	10	10	5	16	1	3	1	0	1	3	0	6	1	3	1	4	1	2	1	4	1	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr9:139354317C>T	ENST00000371706.3	-	13	4582	c.4549G>A	c.(4549-4551)Gac>Aac	p.D1517N	SEC16A_ENST00000313050.7_Missense_Mutation_p.D1695N|SEC16A_ENST00000431893.2_Missense_Mutation_p.D1517N|SEC16A_ENST00000290037.6_Missense_Mutation_p.D1517N			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1517					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CATTTCTCGTCTCCACAGCAC	0.557																																																	0													55	57	57					9																	139354317		2081	4212	6293	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4549G>A	9.37:g.139354317C>T	ENSP00000360771:p.Asp1517Asn		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.D1695N	ENST00000371706.3	37	c.5083		9	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303901	0.81136	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.50001	1.69;0.76;1.3;1.69;1.69;1.69	5.66	5.66	0.87406	.	0.048843	0.85682	D	0.000000	T	0.67869	0.2939	L	0.61387	1.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.994;0.992;0.987;0.993	T	0.69068	-0.5243	10	0.72032	D	0.01	-35.6721	18.7199	0.91689	0.0:1.0:0.0:0.0	.	1695;1517;1517;1085	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	N	1695;89;417;1517;1517;1517;1085	ENSP00000325827:D1695N;ENSP00000277537:D89N;ENSP00000403525:D417N;ENSP00000360771:D1517N;ENSP00000290037:D1517N;ENSP00000387583:D1517N	ENSP00000277537:D89N	D	-	1	0	SEC16A	138474138	1.000000	0.71417	0.705000	0.30386	0.251000	0.25915	7.702000	0.84576	2.668000	0.90789	0.561000	0.74099	GAC	SEC16A	-	NULL	ENSG00000148396		0.557	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0	31	0	C	XM_088459		139354317	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	T	T	139354317	C	T	139354317	3	4	83	1	0	0	0	0	1	0	0	0	14031	913	32	3	2062	3	SEC16A	9	139354317	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	4188	139354317	1859114	170	22053											
ITIH5	80760	genome.wustl.edu	37	chr10	7618751	7618751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccctgccttctgaggcCgcacaggcacatctgtcttc	5	12	8	16	1	3	1	0	1	3	0	5	1	4	1	3	2	1	2	3	2	0	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr10:7618751C>T	ENST00000256861.6	-	10	1721	c.1643G>A	c.(1642-1644)cGg>cAg	p.R548Q	ITIH5_ENST00000397145.2_Missense_Mutation_p.R548Q|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548Q|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330Q|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCTGAGGCCGCACAGGCAC	0.592																																																	0													66	64	65					10																	7618751		2203	4300	6503	SO:0001583	missense	0					10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"inter-alpha (globulin) inhibitor H5"			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1643G>A	10.37:g.7618751C>T	ENSP00000256861:p.Arg548Gln		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R548Q	ENST00000256861.6	37	c.1643		10	.	.	.	.	.	.	.	.	.	.	C	2.932	-0.220880	0.06061	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	5.41	-4.29	0.03721	.	0.880038	0.10177	N	0.706378	T	0.05686	0.0149	.	.	.	0.09310	N	1	B;B;B	0.15930	0.006;0.015;0.007	B;B;B	0.06405	0.001;0.001;0.002	T	0.42699	-0.9436	9	0.24483	T	0.36	-14.6668	8.6715	0.34154	0.0:0.4423:0.1098:0.4479	.	548;548;334	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	Q	548;548;334;330;548	ENSP00000256861:R548Q;ENSP00000380333:R548Q;ENSP00000298441:R334Q;ENSP00000387969:R330Q;ENSP00000380332:R548Q	ENSP00000256861:R548Q	R	-	2	0	ITIH5	7658757	0.000000	0.05858	0.060000	0.19600	0.024000	0.10985	-0.244000	0.08903	-0.263000	0.09378	0.462000	0.41574	CGG	ITIH5	-	NULL	ENSG00000123243		0.592	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	HGNC	protein_coding	OTTHUMT00000046688.1	-	0	38	0	C	NM_030569		7618751	-1	tier1	-	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	17.91	55	12	SNP	0.001	T	T	7618751	C	T	7618751	3	4	83	1	0	0	0	0	1	0	0	0	7934	652	23	1	1328	1	ITIH5	10	7618751	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09		7618751	127915996	171	22054											
PDCD11	22984	genome.wustl.edu	37	chr10	105181166	105181166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagggccagacagtagCggcaaaggtgaccaatgtgg	11	7	16	7	1	0	3	0	2	0	1	0	3	0	3	2	4	1	3	2	4	3	2	rs145404572	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr10:105181166C>T	ENST00000369797.3	+	17	2433	c.2339C>T	c.(2338-2340)gCg>gTg	p.A780V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	780	S1 motif 8. {ECO:0000255|PROSITE- ProRule:PRU00180}.		A -> S (in dbSNP:rs11591914).		mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.A780V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGACAGTAGCGGCAAAGGTG	0.537													C|||	2	0.000399361	8e-04	0	5008	,	,		16448	0.001		0	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											67	57	60					10																	105181166		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2339C>T	10.37:g.105181166C>T	ENSP00000358812:p.Ala780Val		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.A780V	ENST00000369797.3	37	c.2339	CCDS31276.1	10	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	0.013	-1.639427	0.00799	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.42900	0.96	5.74	2.05	0.26809	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.496053	0.24443	N	0.038497	T	0.11623	0.0283	N	0.00303	-1.675	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29366	-1.0014	10	0.16420	T	0.52	-11.4892	12.0084	0.53272	0.0:0.1304:0.0:0.8696	.	780	Q14690	RRP5_HUMAN	V	780	ENSP00000358812:A780V	ENSP00000358812:A780V	A	+	2	0	PDCD11	105171156	1.000000	0.71417	0.040000	0.18447	0.041000	0.13682	3.097000	0.50251	0.521000	0.28445	-1.421000	0.01109	GCG	PDCD11	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.537	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1		0	56	0	C			105181166	1			no_errors	ENST00000369797	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.049	T	T	105181166	C	T	105181166	3	4	83	1	0	0	0	0	1	0	0	0	11656	768	27	1	2401	1	PDCD11	10	105181166	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	97562415	105181166	30353581	172	22055											
SMNDC1	10285	genome.wustl.edu	37	chr10	112057441	112057441	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaaggtgattgcagcGgtgccattttcttcatctat	9	13	9	10	1	3	1	1	1	2	0	3	1	3	1	2	2	4	2	2	2	2	5	rs150361329	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr10:112057441G>C	ENST00000369603.5	-	4	512	c.309C>G	c.(307-309)acC>acG	p.T103T	SMNDC1_ENST00000369592.1_Silent_p.T103T|SMNDC1_ENST00000471297.1_5'UTR	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	103	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		TGATTGCAGCGGTGCCATTTT	0.463																																																	0													179	154	162					10																	112057441		2203	4300	6503	SO:0001819	synonymous_variant	0			AF083385	CCDS7565.1	10q23	2013-01-23			ENSG00000119953	ENSG00000119953		"Tudor domain containing"	16900	protein-coding gene	gene with protein product	"splicing factor 30, survival of motor neuron-related", "tudor domain containing 16C"	603519				9731529, 9817934	Standard	NM_005871		Approved	SPF30, SMNR, TDRD16C	uc001kzc.4	O75940	OTTHUMG00000019036	ENST00000369603.5:c.309C>G	10.37:g.112057441G>C			B2RA27|D3DRB1|Q5T3K6	Silent	SNP	pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	p.T103	ENST00000369603.5	37	c.309	CCDS7565.1	10																																																																																			SMNDC1	-	pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor	ENSG00000119953		0.463	SMNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMNDC1	HGNC	protein_coding	OTTHUMT00000050325.2	-	0	71	0	G	NM_005871		112057441	-1	tier1	-	no_errors	ENST00000369603	ensembl	human	known	74_37	silent	40.62	37	26	SNP	0.956	C	C	112057441	G	C	112057441	2	2	83	1	0	0	0	0	0	0	0	1	14844	1103	39	5		5	SMNDC1	10	112057441	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	6876275	112057441	23477306	173	22056											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115608957	115608957	+	Frame_Shift_Del	DEL	T	T	-																															aatttgactttctacatctcTttttttgacgctgtgacctc																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr10:115608957delT	ENST00000361384.2	-	2	2824	c.1907delA	c.(1906-1908)aagfs	p.K636fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.K636fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	636					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TCTACATCTCTTTTTTTGACG	0.368								Other identified genes with known or suspected DNA repair function																																									0													169	172	171					10																	115608957		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1907delA	10.37:g.115608957delT	ENSP00000355185:p.Lys636fs		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL	pfam_DRMBL	p.K636fs	ENST00000361384.2	37	c.1907	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL	ENSG00000198924		0.368	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0	51	0	T	NM_014881		115608957	-1	tier1		no_errors	ENST00000361384	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	1.000	-	-	115608957	T	-	115608957	7	5	83	1	0	1	0	1	0	0	0	0	4303	1609	56	0	1247	0	DCLRE1A	10	115608957	Frame_Shift_Del	DEL	T	TCGA-L5-A8NI-01A-11D-A37C-09	3551516	115608957	19925790	174	22057											
MTG1	92170	genome.wustl.edu	37	chr10	135207758	135207758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgcgctgtgcagcgccGcccaggccgcctggcgggag	3	3	18	17	8	0	0	0	0	0	0	0	1	0	1	4	3	2	2	4	3	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr10:135207758G>A	ENST00000317502.6	+	1	84	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	RP11-108K14.8_ENST00000468317.2_Intron|MTG1_ENST00000477902.2_Intron	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	12					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GTGCAGCGCCGCCCAGGCCGC	0.746																																																	0													4	6	5					10																	135207758		1759	3378	5137	SO:0001583	missense	0				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"GTP-binding protein 7", "GTP-binding protein 7 (putative)", "mitochondrial GTPase 1 homolog (S. cerevisiae)"	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.34G>A	10.37:g.135207758G>A	ENSP00000323047:p.Ala12Thr		Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	pfam_GTP_binding_domain,superfamily_P-loop_NTPase,pirsf_GTPase_MTG1,tigrfam_GTP-bd_ribosome_bgen_YlqF	p.A12T	ENST00000317502.6	37	c.34	CCDS31320.1	10	.	.	.	.	.	.	.	.	.	.	g	15.74	2.922596	0.52653	.	.	ENSG00000148824	ENST00000317502;ENST00000432508	T;T	0.49432	1.45;0.78	5.01	4.08	0.47627	.	2.417310	0.01583	N	0.021175	T	0.35422	0.0931	N	0.14661	0.345	0.36809	D	0.885792	B	0.17465	0.022	B	0.12837	0.008	T	0.06643	-1.0815	10	0.18710	T	0.47	-1.8056	10.5784	0.45240	0.0:0.0:0.8071:0.1929	.	12	Q9BT17	MTG1_HUMAN	T	12	ENSP00000323047:A12T;ENSP00000393480:A12T	ENSP00000323047:A12T	A	+	1	0	AL360181.1	135057748	0.070000	0.21116	0.009000	0.14445	0.042000	0.13812	1.571000	0.36450	1.057000	0.40506	0.563000	0.77884	GCC	MTG1	-	NULL	ENSG00000148824		0.746	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	MTG1	HGNC	protein_coding	OTTHUMT00000051166.1	-	0	17	0	G	NM_138384		135207758	1	tier1	-	no_errors	ENST00000317502	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.045	A	A	135207758	G	A	135207758	3	1	83	1	0	0	0	0	1	0	0	0	9964	1087	38	1	36	1	MTG1	10	135207758	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	19598801	135207758	326989	175	22058											
MUC5B	727897	genome.wustl.edu	37	chr11	1247507	1247507	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttccccagcctgagccGtaagcagatgctgcccctgc	6	9	10	16	1	1	2	0	1	1	1	2	2	2	2	6	0	6	3	6	0	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:1247507G>A	ENST00000529681.1	+	3	257		c.e3+1		MUC5B_ENST00000447027.1_Splice_Site	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming						cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCCTGAGCCGTAAGCAGATG	0.672																																																	0													13	17	16					11																	1247507		1888	4013	5901	SO:0001630	splice_region_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.199+1G>A	11.37:g.1247507G>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Splice_Site	SNP	-	e3+1	ENST00000529681.1	37	c.199+1	CCDS44515.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.73|11.73	1.725410|1.725410	0.30593|0.30593	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637|ENST00000406844	.|.	.|.	.|.	3.24|3.24	3.24|3.24	0.37175|0.37175	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35098	.|0.0920	.|.	.|.	.|.	0.47621|0.47621	D|D	0.999478|0.999478	.|D	.|0.62365	.|0.991	.|B	.|0.43155	.|0.41	.|T	.|0.06320	.|-1.0833	.|7	.|0.20519	.|T	.|0.43	.|.	10.1164|10.1164	0.42593|0.42593	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|693	.|A7Y9J9	.|.	.|H	-1|70	.|.	.|ENSP00000384815:R70H	.|R	+|+	.|2	.|0	MUC5B|MUC5B	1204083|1204083	0.421000|0.421000	0.25465|0.25465	0.618000|0.618000	0.29105|0.29105	0.052000|0.052000	0.14988|0.14988	0.926000|0.926000	0.28804|0.28804	1.813000|1.813000	0.52934|0.52934	0.561000|0.561000	0.74099|0.74099	.|CGT	MUC5B	-	-	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	206	0	G	XM_001126093	Intron	1247507	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	splice_site	28.33	208	83	SNP	0.453	A	A	1247507	G	A	1247507	5	1	83	1	0	0	0	0	0	0	1	0	10017	1159	40	1	210	1	MUC5B	11	1247507	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		1247507	133759009	176	22059											
OR52J3	119679	genome.wustl.edu	37	chr11	5068584	5068584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggttacattcacattcttGttgccaatctctatttgatt	9	18	5	9	0	3	1	1	1	2	0	4	1	3	1	1	1	2	2	1	1	3	8	rs558682985	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:5068584G>A	ENST00000380370.1	+	1	829	c.829G>A	c.(829-831)Gtt>Att	p.V277I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACATTCTTGTTGCCAATCT	0.413																																																	0													171	154	160					11																	5068584		2201	4298	6499	SO:0001583	missense	0			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.829G>A	11.37:g.5068584G>A	ENSP00000369728:p.Val277Ile		Q6IFE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V277I	ENST00000380370.1	37	c.829	CCDS31370.1	11	.	.	.	.	.	.	.	.	.	.	G	3.617	-0.078430	0.07184	.	.	ENSG00000205495	ENST00000380370	T	0.36878	1.23	4.19	-3.94	0.04130	GPCR, rhodopsin-like superfamily (1);	0.368313	0.19427	N	0.114560	T	0.22742	0.0549	L	0.33189	0.99	0.09310	N	0.999999	B	0.19073	0.033	B	0.26864	0.074	T	0.15636	-1.0430	10	0.42905	T	0.14	.	8.1721	0.31260	0.6305:0.1888:0.1808:0.0	.	277	Q8NH60	O52J3_HUMAN	I	277	ENSP00000369728:V277I	ENSP00000369728:V277I	V	+	1	0	OR52J3	5025160	0.000000	0.05858	0.960000	0.40013	0.082000	0.17680	-1.641000	0.02007	-0.766000	0.04639	-0.793000	0.03317	GTT	OR52J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000205495		0.413	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	HGNC	protein_coding	OTTHUMT00000142807.1	-	0	38	0	G	NM_001001916		5068584	1	tier1	-	no_errors	ENST00000380370	ensembl	human	known	74_37	missense	35.42	31	17	SNP	0.005	A	A	5068584	G	A	5068584	3	1	83	1	0	0	0	0	1	0	0	0	11161	1377	48	3	831	3	OR52J3	11	5068584	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3821077	5068584	129937932	177	22060											
UBQLNL	143630	genome.wustl.edu	37	chr11	5537601	5537601	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcacttgaagagatatttTtgtctgccagcagacctgat	10	13	10	8	0	1	4	0	2	1	2	1	5	1	4	2	1	2	2	2	1	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:5537601T>A	ENST00000380184.1	-	1	334	c.71A>T	c.(70-72)aAa>aTa	p.K24I	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	24										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGAGATATTTTTGTCTGCCAG	0.507																																																	0													98	95	96					11																	5537601		2201	4297	6498	SO:0001583	missense	0			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"Ubiquilin family"	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.71A>T	11.37:g.5537601T>A	ENSP00000369531:p.Lys24Ile		Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.K24I	ENST00000380184.1	37	c.71	CCDS31385.1	11	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414414	0.42817	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.42900	0.96	4.94	0.88	0.19161	.	1.035410	0.07661	N	0.933607	T	0.41534	0.1163	L	0.53249	1.67	0.09310	N	1	P	0.44578	0.838	P	0.44990	0.466	T	0.28235	-1.0050	10	0.42905	T	0.14	.	6.6943	0.23191	0.0:0.3336:0.0:0.6664	.	24	Q8IYU4	UBQLN_HUMAN	I	24	ENSP00000369531:K24I	ENSP00000369531:K24I	K	-	2	0	UBQLNL	5494177	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.425000	0.21346	-0.025000	0.13918	-0.263000	0.10527	AAA	UBQLNL	-	NULL	ENSG00000175518		0.507	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	UBQLNL	HGNC	protein_coding	OTTHUMT00000143386.1	-	0	47	0	T	NM_145053		5537601	-1	tier1	-	no_errors	ENST00000380184	ensembl	human	putative	74_37	missense	28.21	28	11	SNP	0.000	A	A	5537601	T	A	5537601	3	1	83	1	0	0	0	0	1	0	0	0	16949	1841	64	5	1360	5	UBQLNL	11	5537601	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	469017	5537601	129468915	178	22061											
TAF10	6881	genome.wustl.edu	37	chr11	6632975	6632975	+	Frame_Shift_Del	DEL	C	C	-																															gggcttcacgtctccgttggCcgcgctcggcagtacgtaaa																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:6632975delC	ENST00000299424.4	-	2	784	c.307delG	c.(307-309)gccfs	p.A103fs	TAF10_ENST00000531760.1_5'UTR|RP11-732A19.2_ENST00000527398.1_RNA	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	103					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTCCGTTGGCCGCGCTCGGC	0.632																																																	0													35	41	39					11																	6632975		2201	4296	6497	SO:0001589	frameshift_variant	0			U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.307delG	11.37:g.6632975delC	ENSP00000299424:p.Ala103fs		O00703|Q13175|Q6FH13	Frame_Shift_Del	DEL	pfam_TFIID_30kDa,pirsf_TFIID_30kDa,prints_TFIID_30kDa	p.A103fs	ENST00000299424.4	37	c.307	CCDS7769.1	11																																																																																			TAF10	-	pirsf_TFIID_30kDa	ENSG00000166337		0.632	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF10	HGNC	protein_coding	OTTHUMT00000257259.2		0	18	0	C	NM_006284		6632975	-1	tier1		no_errors	ENST00000299424	ensembl	human	known	74_37	frame_shift_del	33.33	14	7	DEL	1.000	-	-	6632975	C	-	6632975	7	5	83	1	0	1	0	1	0	0	0	0	15561	739	26	0	365	0	TAF10	11	6632975	Frame_Shift_Del	DEL	C	TCGA-L5-A8NI-01A-11D-A37C-09	1095374	6632975	128373541	179	22062											
OVCH2	341277	genome.wustl.edu	37	chr11	7718085	7718085	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaacatctaggtgggaaaaActgagcaacacatgcatttc	15	9	8	9	0	2	1	1	1	1	0	3	2	2	2	0	2	5	2	0	2	5	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:7718085A>C	ENST00000533663.1	-	0	0				OVCH2_ENST00000454689.1_RNA|OVCH2_ENST00000534193.2_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GGTGGGAAAAACTGAGCAACA	0.453																																																	0													115	112	113					11																	7718085		1987	4162	6149			0			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"ovochymase 2"			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7718085A>C				Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S356R	ENST00000533663.1	37	c.1068		11	.	.	.	.	.	.	.	.	.	.	A	0.609	-0.825661	0.02734	.	.	ENSG00000183378	ENST00000454689	T	0.18016	2.24	5.45	-0.76	0.11041	CUB (5);	1.004800	0.08013	N	0.990669	T	0.10594	0.0259	L	0.31526	0.94	0.09310	N	1	B	0.32010	0.351	B	0.32022	0.139	T	0.34925	-0.9809	10	0.07813	T	0.8	0.3856	8.6326	0.33928	0.553:0.0:0.447:0.0	.	356	Q7RTZ1	OVCH2_HUMAN	R	356	ENSP00000407158:S356R	ENSP00000407158:S356R	S	-	3	2	OVCH2	7674661	0.086000	0.21541	0.002000	0.10522	0.065000	0.16274	0.448000	0.21726	-0.151000	0.11176	-0.256000	0.11100	AGT	OVCH2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183378		0.453	OVCH2-002	KNOWN	basic	processed_transcript	OVCH2	HGNC	polymorphic_pseudogene	OTTHUMT00000383928.1	-	0	48	0	A	NM_198185		7718085	-1	tier1	-	no_errors	ENST00000454689	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.019	C	C	7718085	A	C	7718085	1	2	83	0	1	0	0	0	0	0	0	0	11363	40	2	4		4	OVCH2	11	7718085	RNA	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	1085110	7718085	127288431	180	22063											
CTR9	9646	genome.wustl.edu	37	chr11	10790026	10790026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaaagcagtacatcagCgccgttcagatggtaatagc	14	7	11	9	2	2	1	2	0	0	1	2	2	2	1	1	1	5	5	1	1	5	4	rs140813178	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:10790026C>T	ENST00000361367.2	+	16	2523	c.2097C>T	c.(2095-2097)agC>agT	p.S699S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	699					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGTACATCAGCGCCGTTCAGA	0.413																																																	0								C		2,4400	4.2+/-10.8	0,2,2199	108	103	105		2097	-1.7	1	11	dbSNP_134	105	8,8580	6.4+/-24.3	0,8,4286	no	coding-synonymous	CTR9	NM_014633.3		0,10,6485	TT,TC,CC		0.0932,0.0454,0.077		699/1174	10790026	10,12980	2201	4294	6495	SO:0001819	synonymous_variant	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"Tetratricopeptide (TTC) repeat domain containing"	16850	protein-coding gene	gene with protein product		609366	"SH2 domain binding protein 1 (tetratricopeptide repeat containing)", "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2097C>T	11.37:g.10790026C>T			D3DQV8|Q15015	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S699	ENST00000361367.2	37	c.2097	CCDS7805.1	11																																																																																			CTR9	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000198730		0.413	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1		0	38	0	C	NM_014633		10790026	1			no_errors	ENST00000361367	ensembl	human	known	74_37	silent	28.12	23	9	SNP	0.991	T	T	10790026	C	T	10790026	2	4	83	1	0	0	0	0	0	0	0	1	4033	767	27	1		1	CTR9	11	10790026	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	3071941	10790026	124216490	181	22064											
LDHAL6A	160287	genome.wustl.edu	37	chr11	18478264	18478264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacttattaagaatttcGcggaagaggaggccattcat	13	11	11	6	2	1	3	1	1	0	2	2	5	1	5	1	3	1	0	1	3	5	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:18478264G>T	ENST00000280706.2	+	1	834	c.37G>T	c.(37-39)Gcg>Tcg	p.A13S	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.A13S	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	13					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						TAAGAATTTCGCGGAAGAGGA	0.413																																																	0													121	116	118					11																	18478264		2199	4293	6492	SO:0001583	missense	0			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.37G>T	11.37:g.18478264G>T	ENSP00000280706:p.Ala13Ser		D3DQY5	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.A13S	ENST00000280706.2	37	c.37	CCDS7841.1	11	.	.	.	.	.	.	.	.	.	.	G	6.505	0.461347	0.12342	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.90261	-2.64;-2.64	4.2	-6.11	0.02131	NAD(P)-binding domain (1);	1.072780	0.07382	U	0.887681	T	0.75295	0.3830	N	0.12471	0.22	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.61257	-0.7099	10	0.21540	T	0.41	.	4.2367	0.10628	0.1971:0.2411:0.4549:0.1069	.	13	Q6ZMR3	LDH6A_HUMAN	S	13	ENSP00000379516:A13S;ENSP00000280706:A13S	ENSP00000280706:A13S	A	+	1	0	LDHAL6A	18434840	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.084000	0.03393	-0.552000	0.06167	-1.004000	0.02495	GCG	LDHAL6A	-	NULL	ENSG00000166800		0.413	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHAL6A	HGNC	protein_coding	OTTHUMT00000395904.1	-	0	40	0	G	NM_144972		18478264	1	tier1	-	no_errors	ENST00000280706	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	18478264	G	T	18478264	3	4	83	1	0	0	0	0	1	0	0	0	8727	1087	38	2	39	2	LDHAL6A	11	18478264	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	7688238	18478264	116528252	182	22065											
IGSF22	283284	genome.wustl.edu	37	chr11	18735564	18735564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgtcacttccatgccatCcttgtaccatgtcactttgg	6	14	6	15	1	2	0	2	0	0	0	5	0	5	0	5	1	2	1	5	1	1	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:18735564C>A	ENST00000513874.1	-	14	2069	c.1930G>T	c.(1930-1932)Gat>Tat	p.D644Y	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	644	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCCATGCCATCCTTGTACCAT	0.607																																																	0													122	126	125					11																	18735564		2180	4266	6446	SO:0001583	missense	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1930G>T	11.37:g.18735564C>A	ENSP00000421191:p.Asp644Tyr		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D644Y	ENST00000513874.1	37	c.1930	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643040	0.67244	.	.	ENSG00000179057	ENST00000513874	T	0.52057	0.68	4.11	2.13	0.27403	.	0.000000	0.37857	U	0.001914	T	0.76709	0.4025	H	0.98048	4.135	0.23762	N	0.996914	D	0.89917	1.0	D	0.91635	0.999	T	0.68903	-0.5286	10	0.87932	D	0	.	9.0426	0.36327	0.1657:0.6745:0.1598:0.0	.	644	D6RGV7	.	Y	644	ENSP00000421191:D644Y	ENSP00000322422:D644Y	D	-	1	0	IGSF22	18692140	0.994000	0.37717	0.712000	0.30502	0.982000	0.71751	5.070000	0.64376	0.342000	0.23796	0.551000	0.68910	GAT	IGSF22	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000179057		0.607	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	-	0	78	0	C	NM_173588		18735564	-1	tier1	-	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.991	A	A	18735564	C	A	18735564	3	1	83	1	0	0	0	0	1	0	0	0	7627	855	30	3	2090	3	IGSF22	11	18735564	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	257300	18735564	116270952	183	22066											
KIF18A	81930	genome.wustl.edu	37	chr11	28057867	28057867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtaaatgtagagtccaagtCctcctgtccacattcttttc	10	14	6	11	0	1	1	0	0	1	1	6	1	5	1	4	0	0	2	4	0	4	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:28057867C>T	ENST00000263181.6	-	14	2583	c.2293G>A	c.(2293-2295)Gac>Aac	p.D765N		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	765					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GAGTCCAAGTCCTCCTGTCCA	0.353																																																	0													140	135	137					11																	28057867		2202	4298	6500	SO:0001583	missense	0			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"Kinesins"	29441	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 99"	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2293G>A	11.37:g.28057867C>T	ENSP00000263181:p.Asp765Asn		Q4VPE3|Q86VS5|Q9H0F3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D765N	ENST00000263181.6	37	c.2293	CCDS7867.1	11	.	.	.	.	.	.	.	.	.	.	C	0.522	-0.861804	0.02610	.	.	ENSG00000121621	ENST00000263181	T	0.71817	-0.6	5.07	0.0808	0.14422	.	1.140340	0.06286	N	0.698302	T	0.50188	0.1601	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26052	-1.0114	10	0.16896	T	0.51	.	5.9277	0.19122	0.0:0.4031:0.135:0.4619	.	765	Q8NI77	KI18A_HUMAN	N	765	ENSP00000263181:D765N	ENSP00000263181:D765N	D	-	1	0	KIF18A	28014443	0.002000	0.14202	0.074000	0.20217	0.042000	0.13812	-0.130000	0.10498	0.057000	0.16193	0.643000	0.83706	GAC	KIF18A	-	NULL	ENSG00000121621		0.353	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF18A	HGNC	protein_coding	OTTHUMT00000388328.3	-	0	64	0	C	NM_031217		28057867	-1	tier1	-	no_errors	ENST00000263181	ensembl	human	known	74_37	missense	44.44	25	20	SNP	0.001	T	T	28057867	C	T	28057867	3	4	83	1	0	0	0	0	1	0	0	0	8307	855	30	3	419	3	KIF18A	11	28057867	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	9322303	28057867	106948649	184	22067											
PAMR1	25891	genome.wustl.edu	37	chr11	35489582	35489582	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcccagtatagcctgccaAgcaggcacacttgtaagatc	11	8	9	13	0	0	1	0	0	0	1	1	1	0	1	3	1	4	4	3	1	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:35489582A>C	ENST00000378880.2	-	6	1232	c.787T>G	c.(787-789)Ttg>Gtg	p.L263V	PAMR1_ENST00000278360.3_Missense_Mutation_p.L263V|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.L223V|PAMR1_ENST00000378878.3_Missense_Mutation_p.L152V	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	263	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TAGCCTGCCAAGCAGGCACAC	0.502																																																	0													80	48	59					11																	35489582		2199	4286	6485	SO:0001583	missense	0				CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"regeneration-associated muscle protease"					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.787T>G	11.37:g.35489582A>C	ENSP00000368158:p.Leu263Val		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1	p.L263V	ENST00000378880.2	37	c.787	CCDS31460.1	11	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932094	0.73442	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.99527	-6.09;-6.09;-3.01;-6.09;-6.09;-3.01	5.9	1.63	0.23807	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	N	0.21545	0.675	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.83275	0.992;0.994;0.996	D	0.97639	1.0147	10	0.87932	D	0	.	9.9387	0.41567	0.2917:0.0:0.7083:0.0	.	152;263;263	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	V	263;263;152;223;223;152	ENSP00000278360:L263V;ENSP00000368158:L263V;ENSP00000368156:L152V;ENSP00000433868:L223V;ENSP00000432591:L223V;ENSP00000433024:L152V	ENSP00000278360:L263V	L	-	1	2	PAMR1	35446158	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	2.314000	0.43743	0.041000	0.15688	-0.366000	0.07423	TTG	PAMR1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000149090		0.502	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAMR1	HGNC	protein_coding	OTTHUMT00000389177.1	-	0	21	0	A	NM_015430		35489582	-1	tier1	-	no_errors	ENST00000278360	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	35489582	A	C	35489582	3	2	83	1	0	0	0	0	1	0	0	0	11452	69	3	4	1454	4	PAMR1	11	35489582	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	7431715	35489582	99516934	185	22068											
PRR5L	79899	genome.wustl.edu	37	chr11	36440811	36440811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttctccccaggcggctGttgaagagtgaacttggatc	7	11	11	12	1	1	3	0	2	1	1	4	4	2	4	3	3	1	2	3	3	2	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:36440811G>A	ENST00000378867.3	+	5	607	c.252G>A	c.(250-252)ctG>ctA	p.L84L	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Silent_p.L58L|PRR5L_ENST00000530639.1_Silent_p.L84L|PRR5L_ENST00000527487.1_Silent_p.L84L	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	84					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCAGGCGGCTGTTGAAGAGTG	0.512																																																	0													203	177	186					11																	36440811		2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.252G>A	11.37:g.36440811G>A			A4QN22|E9PKY1|Q96H46|Q9H7V4	Silent	SNP	pfam_HbrB	p.L84	ENST00000378867.3	37	c.252	CCDS31463.1	11																																																																																			PRR5L	-	pfam_HbrB	ENSG00000135362		0.512	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	-	0	91	0	G	NM_024841		36440811	1	tier1	-	no_errors	ENST00000378867	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	A	A	36440811	G	A	36440811	2	1	83	1	0	0	0	0	0	0	0	1	12644	1364	48	3		3	PRR5L	11	36440811	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	951229	36440811	98565705	186	22069											
CKAP5	9793	genome.wustl.edu	37	chr11	46802011	46802011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagagctgtcttcacattGctaatgaaagctttgacatt	12	13	8	8	0	2	3	1	2	1	1	2	3	2	3	0	0	3	4	0	0	3	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:46802011G>T	ENST00000529230.1	-	19	2320	c.2274C>A	c.(2272-2274)agC>agA	p.S758R	CKAP5_ENST00000354558.3_Missense_Mutation_p.S758R|CKAP5_ENST00000415402.1_Missense_Mutation_p.S758R|CKAP5_ENST00000312055.5_Missense_Mutation_p.S758R			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	758					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTTCACATTGCTAATGAAAG	0.338																																					Ovarian(4;85 273 2202 4844 13323)												0													94	87	89					11																	46802011		2201	4299	6500	SO:0001583	missense	0				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2274C>A	11.37:g.46802011G>T	ENSP00000432768:p.Ser758Arg		Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2	p.S758R	ENST00000529230.1	37	c.2274	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138806	0.56936	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.57	4.66	0.58398	Armadillo-type fold (1);	0.082952	0.85682	D	0.000000	T	0.51075	0.1653	L	0.29908	0.895	0.40782	D	0.983182	P;P;P	0.41848	0.646;0.763;0.651	B;B;B	0.42422	0.117;0.387;0.216	T	0.49943	-0.8885	10	0.31617	T	0.26	-5.8045	11.0	0.47600	0.1602:0.0:0.8398:0.0	.	758;758;758	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	R	758	ENSP00000432768:S758R;ENSP00000395302:S758R;ENSP00000310227:S758R;ENSP00000346566:S758R	ENSP00000310227:S758R	S	-	3	2	CKAP5	46758587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.025000	0.57225	1.358000	0.45922	0.655000	0.94253	AGC	CKAP5	-	superfamily_ARM-type_fold	ENSG00000175216		0.338	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	-	0	59	0	G	NM_014756		46802011	-1	tier1	-	no_errors	ENST00000415402	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	46802011	G	T	46802011	3	4	83	1	0	0	0	0	1	0	0	0	3452	1310	46	3	3928	3	CKAP5	11	46802011	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	10361200	46802011	88204505	187	22070											
MADD	8567	genome.wustl.edu	37	chr11	47307015	47307015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaagggctcaaaagctgCtgcggcccaacagcttgaga	12	7	11	11	1	2	1	2	1	0	1	2	2	2	1	1	2	5	4	1	2	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:47307015C>T	ENST00000311027.5	+	14	2590	c.2425C>T	c.(2425-2427)Ctg>Ttg	p.L809L	MADD_ENST00000342922.4_Silent_p.L809L|MADD_ENST00000402192.2_Silent_p.L809L|MADD_ENST00000402799.1_Silent_p.L766L|MADD_ENST00000349238.3_Silent_p.L809L|MADD_ENST00000407859.3_Silent_p.L766L|MADD_ENST00000406482.1_Silent_p.L766L|MADD_ENST00000395336.3_Silent_p.L809L|MADD_ENST00000395344.3_Silent_p.L766L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCAAAAGCTGCTGCGGCCCAA	0.552																																																	0													140	131	134					11																	47307015		2201	4298	6499	SO:0001819	synonymous_variant	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2425C>T	11.37:g.47307015C>T				Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L809	ENST00000311027.5	37	c.2425	CCDS7930.1	11																																																																																			MADD	-	NULL	ENSG00000110514		0.552	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1		0	40	0	C			47307015	1			no_errors	ENST00000311027	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T	T	47307015	C	T	47307015	2	4	83	1	0	0	0	0	0	0	0	1	9188	796	28	3		3	MADD	11	47307015	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	505004	47307015	87699501	188	22071											
APLNR	187	genome.wustl.edu	37	chr11	57003544	57003544	+	Frame_Shift_Del	DEL	A	A	-																															cctggcggaagcgggggtcgAaaaaggcatagaggaagggg																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:57003544delA	ENST00000606794.1	-	1	1131	c.935delT	c.(934-936)ttcfs	p.F312fs		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	312					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCGGGGGTCGAAAAAGGCATA	0.602																																																	0													100	55	70					11																	57003544		2201	4296	6497	SO:0001589	frameshift_variant	0			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"APJ (apelin) receptor"	600052	"angiotensin II receptor-like 1"	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.935delT	11.37:g.57003544delA	ENSP00000475344:p.Phe312fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.F312fs	ENST00000606794.1	37	c.935	CCDS7950.1	11																																																																																			APLNR	-	pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,prints_GPCR_Rhodpsn	ENSG00000134817		0.602	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1		0	55	0	A	NM_005161		57003544	-1	tier1		no_errors	ENST00000257254	ensembl	human	known	74_37	frame_shift_del	11.76	30	4	DEL	1.000	-	-	57003544	A	-	57003544	7	5	83	1	0	1	0	1	0	0	0	0	777	246	9	0	211	0	APLNR	11	57003544	Frame_Shift_Del	DEL	A	TCGA-L5-A8NI-01A-11D-A37C-09	9696529	57003544	78002972	189	22072											
OSBP	5007	genome.wustl.edu	37	chr11	59349001	59349001	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagtgtagtggtgcccagTtgcatggaaaatacaatgaa	14	9	11	7	0	0	1	0	1	0	0	0	2	0	2	2	2	3	3	2	2	7	3	rs372017413		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:59349001T>G	ENST00000263847.1	-	10	2184	c.1705A>C	c.(1705-1707)Act>Cct	p.T569P		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	569					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGTGCCCAGTTGCATGGAAA	0.413																																																	0													153	128	137					11																	59349001		2201	4295	6496	SO:0001583	missense	0			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.1705A>C	11.37:g.59349001T>G	ENSP00000263847:p.Thr569Pro		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T569P	ENST00000263847.1	37	c.1705	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	T	15.38	2.815128	0.50527	.	.	ENSG00000110048	ENST00000263847;ENST00000378235	T	0.30714	1.52	5.45	5.45	0.79879	.	0.187386	0.56097	D	0.000028	T	0.39118	0.1066	L	0.58510	1.815	0.46701	D	0.999168	P	0.45212	0.853	P	0.50617	0.646	T	0.14364	-1.0475	10	0.35671	T	0.21	-17.3032	9.8524	0.41066	0.1529:0.0:0.0:0.8471	.	569	P22059	OSBP1_HUMAN	P	569;169	ENSP00000263847:T569P	ENSP00000263847:T569P	T	-	1	0	OSBP	59105577	0.967000	0.33354	1.000000	0.80357	0.997000	0.91878	2.084000	0.41625	2.082000	0.62665	0.533000	0.62120	ACT	OSBP	-	pfam_Oxysterol-bd	ENSG00000110048		0.413	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	-	0	40	0	T			59349001	-1	tier1	-	no_errors	ENST00000263847	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	G	G	59349001	T	G	59349001	3	3	83	1	0	0	0	0	1	0	0	0	11312	1725	60	4	738	4	OSBP	11	59349001	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	2345457	59349001	75657515	190	22073											
STX3	6809	genome.wustl.edu	37	chr11	59523091	59523091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcaggatgaaggaccgtCtggagcagctgaaggccgtg	9	7	16	9	2	2	2	1	2	1	0	2	5	2	5	2	4	2	3	2	4	2	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:59523091C>T	ENST00000337979.4	+	1	560	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	STX3_ENST00000529177.1_Silent_p.L5L|STX3_ENST00000300150.7_Intron|STX3_ENST00000437946.2_5'UTR|STX3_ENST00000535361.1_Silent_p.L5L|AP000640.10_ENST00000525337.1_RNA	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	5				Missing (in Ref. 2). {ECO:0000305}.	exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAAGGACCGTCTGGAGCAGCT	0.687																																																	0													24	29	27					11																	59523091		2198	4291	6489	SO:0001819	synonymous_variant	0			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.13C>T	11.37:g.59523091C>T			B4DME0|O43750|O43751|Q15360	Silent	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L5	ENST00000337979.4	37	c.13	CCDS7975.1	11																																																																																			STX3	-	NULL	ENSG00000166900		0.687	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	HGNC	protein_coding	OTTHUMT00000394264.1	-	0	38	0	C	NM_004177		59523091	1	tier1	-	no_errors	ENST00000337979	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.999	T	T	59523091	C	T	59523091	2	4	83	1	0	0	0	0	0	0	0	1	15393	912	32	3		3	STX3	11	59523091	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	174090	59523091	75483425	191	22074											
CPSF7	79869	genome.wustl.edu	37	chr11	61183740	61183740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtaatcgaggaggtggggGcatgagatgctggtagtgga	10	8	20	3	1	0	1	0	1	0	1	1	5	0	3	0	7	1	4	0	7	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:61183740G>T	ENST00000394888.4	-	6	974	c.802C>A	c.(802-804)Ccc>Acc	p.P268T	CPSF7_ENST00000340437.4_Missense_Mutation_p.P311T|CPSF7_ENST00000439958.3_Missense_Mutation_p.P259T|CPSF7_ENST00000448745.1_Missense_Mutation_p.P259T	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	268	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P268S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGAGGTGGGGGCATGAGATGC	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)											51	55	53					11																	61183740		2202	4299	6501	SO:0001583	missense	0				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.802C>A	11.37:g.61183740G>T	ENSP00000378352:p.Pro268Thr		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P311T	ENST00000394888.4	37	c.931	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654777	0.67472	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000539952	D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24	5.29	5.29	0.74685	.	0.064918	0.64402	D	0.000007	D	0.84334	0.5449	L	0.49126	1.545	0.80722	D	1	B;B;B;B	0.24721	0.067;0.039;0.11;0.065	B;B;B;B	0.29942	0.012;0.021;0.109;0.047	T	0.79911	-0.1603	10	0.24483	T	0.36	-4.5797	15.0193	0.71617	0.0:0.1427:0.8573:0.0	.	259;268;311;259	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	T	311;268;259;259;34;259	ENSP00000345412:P311T;ENSP00000378352:P268T;ENSP00000397203:P259T;ENSP00000407394:P259T	ENSP00000345412:P311T	P	-	1	0	CPSF7	60940316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.109000	0.50345	2.465000	0.83290	0.650000	0.86243	CCC	CPSF7	-	NULL	ENSG00000149532		0.612	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2		0	50	0	G	NM_024811		61183740	-1			no_errors	ENST00000340437	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	61183740	G	T	61183740	3	4	83	1	0	0	0	0	1	0	0	0	3837	1203	42	3	629	3	CPSF7	11	61183740	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1660649	61183740	73822776	192	22075											
C11orf2	738	genome.wustl.edu	37	chr11	64876183	64876183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggccaccacctgcagggtCtccgggcggccttcctgggc	3	7	15	16	2	1	0	0	0	1	0	3	0	2	0	6	5	1	1	6	5	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:64876183C>G	ENST00000279281.3	+	5	1332	c.1240C>G	c.(1240-1242)Ctc>Gtc	p.L414V	AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	414					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CCTGCAGGGTCTCCGGGCGGC	0.751																																																	0													7	8	8					11																	64876183		1943	3961	5904	SO:0001583	missense	0			AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"fat-free homolog (zebrafish)"	615738	"chromosome 11 open reading frame 3", "chromosome 11 open reading frame 2"	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.1240C>G	11.37:g.64876183C>G	ENSP00000279281:p.Leu414Val		Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom	p.L414V	ENST00000279281.3	37	c.1240	CCDS8093.1	11	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307301	0.60305	.	.	ENSG00000149823	ENST00000279281	.	.	.	5.19	4.22	0.49857	.	0.000000	0.64402	D	0.000001	T	0.77205	0.4096	M	0.80422	2.495	0.58432	D	0.999998	D	0.71674	0.998	D	0.67548	0.952	T	0.79122	-0.1933	8	.	.	.	-4.386	12.906	0.58152	0.0:0.8353:0.1646:0.0	.	414	Q9UID3	FFR_HUMAN	V	414	.	.	L	+	1	0	C11orf2	64632759	0.999000	0.42202	0.995000	0.50966	0.883000	0.51084	3.546000	0.53656	2.420000	0.82092	0.549000	0.68633	CTC	VPS51	-	NULL	ENSG00000149823		0.751	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS51	HGNC	protein_coding	OTTHUMT00000385217.1	-	0	15	0	C	NM_013265		64876183	1	tier1	-	no_errors	ENST00000279281	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	G	G	64876183	C	G	64876183	3	3	83	1	0	0	0	0	1	0	0	0	1638	913	32	5	1258	5	C11orf2	11	64876183	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	3692443	64876183	70130333	193	22076											
CD248	57124	genome.wustl.edu	37	chr11	66082572	66082572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcttcccttgggatttgggGggctttggaatggggatgtg	5	14	17	5	0	1	0	0	0	1	0	2	3	2	3	1	7	0	1	1	7	1	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:66082572G>A	ENST00000311330.3	-	1	1943	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	643	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGGATTTGGGGGGCTTTGGAA	0.657																																																	0													33	38	37					11																	66082572		2200	4291	6491	SO:0001583	missense	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"CD molecules"	18219	protein-coding gene	gene with protein product	"endosialin", "tumor endothelial marker 1"	606064	"CD164 sialomucin-like 1", "CD248 antigen, endosialin"	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1927C>T	11.37:g.66082572G>A	ENSP00000308117:p.Pro643Ser		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin	p.P643S	ENST00000311330.3	37	c.1927	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	G	8.749	0.920914	0.17982	.	.	ENSG00000174807	ENST00000311330	D	0.88664	-2.41	3.83	2.92	0.33932	.	0.754197	0.10631	U	0.652115	D	0.82586	0.5069	L	0.38838	1.175	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.70153	-0.4950	10	0.44086	T	0.13	-1.2254	7.2697	0.26250	0.1269:0.0:0.8731:0.0	.	643	Q9HCU0	CD248_HUMAN	S	643	ENSP00000308117:P643S	ENSP00000308117:P643S	P	-	1	0	CD248	65839148	0.139000	0.22563	0.015000	0.15790	0.814000	0.46013	1.344000	0.33941	0.592000	0.29728	0.467000	0.42956	CCC	CD248	-	NULL	ENSG00000174807		0.657	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	-	0	78	0	G	NM_020404		66082572	-1	tier1	-	no_errors	ENST00000311330	ensembl	human	known	74_37	missense	34.85	43	23	SNP	0.051	A	A	66082572	G	A	66082572	3	1	83	1	0	0	0	0	1	0	0	0	2996	1232	43	3	350	3	CD248	11	66082572	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1206389	66082572	68923944	194	22077											
CCDC83	220047	genome.wustl.edu	37	chr11	85593712	85593712	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagagaccaggaaaaaaacTtgagaggtgatttaggaaca	20	6	11	4	0	0	3	0	2	0	2	0	7	0	5	1	3	2	0	1	3	6	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:85593712T>C	ENST00000342404.3	+	4	553	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	CCDC83_ENST00000280245.4_Silent_p.L113L|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Silent_p.L70L			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	113										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAAAAAACTTGAGAGGTGA	0.358																																																	0													62	60	61					11																	85593712		2203	4299	6502	SO:0001819	synonymous_variant	0			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.337T>C	11.37:g.85593712T>C			B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Silent	SNP	NULL	p.L113	ENST00000342404.3	37	c.337		11																																																																																			CCDC83	-	NULL	ENSG00000150676		0.358	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1	-	0	47	0	T	NM_173556		85593712	1	tier1	-	no_errors	ENST00000280245	ensembl	human	known	74_37	silent	19.23	42	10	SNP	0.947	C	C	85593712	T	C	85593712	2	2	83	1	0	0	0	0	0	0	0	1	2864	1606	56	4		4	CCDC83	11	85593712	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	19511140	85593712	49412804	195	22078											
KDM4D	55693	genome.wustl.edu	37	chr11	94731549	94731549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctatgacctgtggaaacGtgggcaagaccgggcagttg	10	7	15	9	3	0	2	0	1	0	1	0	3	0	3	2	3	1	4	2	3	3	2	rs371293647		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:94731549G>A	ENST00000335080.5	+	3	1845	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	KDM4D_ENST00000536741.1_Missense_Mutation_p.R338H	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	338					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGTGGAAACGTGGGCAAGAC	0.587																																																	0								G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	76	72	73		1013	1.6	0	11		73	0,8596		0,0,4298	no	missense	KDM4D	NM_018039.2	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	338/524	94731549	1,12997	2201	4298	6499	SO:0001583	missense	0			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1013G>A	11.37:g.94731549G>A	ENSP00000334181:p.Arg338His		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.R338H	ENST00000335080.5	37	c.1013	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142305	0.37825	2.27E-4	0.0	ENSG00000186280	ENST00000335080	T	0.29397	1.57	3.73	1.59	0.23543	.	0.287946	0.29551	U	0.011836	T	0.16257	0.0391	N	0.21282	0.65	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.13980	-1.0489	10	0.33141	T	0.24	-2.8192	5.0968	0.14737	0.1351:0.4007:0.4642:0.0	.	338	Q6B0I6	KDM4D_HUMAN	H	338	ENSP00000334181:R338H	ENSP00000334181:R338H	R	+	2	0	KDM4D	94371197	0.000000	0.05858	0.023000	0.16930	0.690000	0.40134	-0.029000	0.12329	0.432000	0.26286	0.462000	0.41574	CGT	KDM4D	-	NULL	ENSG00000186280		0.587	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2	-	0	43	0	G	NM_018039		94731549	1	tier1	-	no_errors	ENST00000335080	ensembl	human	known	74_37	missense	40.74	32	22	SNP	0.001	A	A	94731549	G	A	94731549	3	1	83	1	0	0	0	0	1	0	0	0	8158	1145	40	1	1015	1	KDM4D	11	94731549	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	9137837	94731549	40274967	196	22079											
SIK2	23235	genome.wustl.edu	37	chr11	111593398	111593398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttccagaagcccagcCttctgtcaaaggcccagaac	10	8	8	15	0	3	2	1	0	2	2	4	2	4	2	4	1	4	1	4	1	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:111593398C>G	ENST00000304987.3	+	14	2238	c.2065C>G	c.(2065-2067)Ctt>Gtt	p.L689V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	689					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GAAGCCCAGCCTTCTGTCAAA	0.512																																																	0													131	130	130					11																	111593398		2201	4297	6498	SO:0001583	missense	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.2065C>G	11.37:g.111593398C>G	ENSP00000305976:p.Leu689Val		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L689V	ENST00000304987.3	37	c.2065	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111054	0.37242	.	.	ENSG00000170145	ENST00000304987	T	0.74842	-0.88	5.91	5.91	0.95273	.	0.128446	0.52532	D	0.000064	T	0.68842	0.3045	M	0.61703	1.905	0.45318	D	0.998317	B	0.25719	0.132	B	0.17098	0.017	T	0.62656	-0.6808	10	0.17832	T	0.49	.	13.1723	0.59606	0.0:0.9267:0.0:0.0733	.	689	Q9H0K1	SIK2_HUMAN	V	689	ENSP00000305976:L689V	ENSP00000305976:L689V	L	+	1	0	SIK2	111098608	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.381000	0.44336	2.808000	0.96608	0.655000	0.94253	CTT	SIK2	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000170145		0.512	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	-	0	27	0	C	NM_015191		111593398	1	tier1	-	no_errors	ENST00000304987	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	G	G	111593398	C	G	111593398	3	3	83	1	0	0	0	0	1	0	0	0	14363	681	24	5	2119	5	SIK2	11	111593398	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	16861849	111593398	23413118	197	22080											
DRD2	1813	genome.wustl.edu	37	chr11	113285184	113285184	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggtgagtacagttgccCtgtggagtgagccagcacat	8	9	15	9	1	0	2	0	2	0	0	1	3	0	3	2	3	4	3	2	3	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:113285184C>A	ENST00000362072.3	-	6	1068		c.e6-1		DRD2_ENST00000535984.1_Splice_Site|DRD2_ENST00000542968.1_Splice_Site|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000544518.1_Splice_Site|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000355319.2_Splice_Site|DRD2_ENST00000538967.1_Splice_Site	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2						activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TACAGTTGCCCTGTGGAGTGA	0.547																																																	0													124	116	118					11																	113285184		2201	4296	6497	SO:0001630	splice_region_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.724-1G>T	11.37:g.113285184C>A			Q9NZR3|Q9UPA9	Splice_Site	SNP	-	e5-1	ENST00000362072.3	37	c.724-1	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012582	0.75161	.	.	ENSG00000149295	ENST00000355319;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.904	0.92453	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DRD2	112790394	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.407000	0.80029	2.451000	0.82905	0.462000	0.41574	.	DRD2	-	-	ENSG00000149295		0.547	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	-	0	68	0	C	NM_000795	Intron	113285184	-1	tier1	-	no_errors	ENST00000355319	ensembl	human	known	74_37	splice_site	7.84	47	4	SNP	1.000	A	A	113285184	C	A	113285184	5	1	83	1	0	0	0	0	0	0	1	0	4771	695	24	3	620	3	DRD2	11	113285184	Splice_Site	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	1691786	113285184	21721332	198	22081											
CBL	867	genome.wustl.edu	37	chr11	119169200	119169200	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactctctcagatatctctaAtgccagctcctcctttggct	8	14	5	14	0	3	1	1	0	2	1	7	1	5	1	3	1	3	2	3	1	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:119169200A>T	ENST00000264033.4	+	15	2760	c.2384A>T	c.(2383-2385)aAt>aTt	p.N795I		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	795	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GATATCTCTAATGCCAGCTCC	0.537			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	0													95	92	93					11																	119169200		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2384A>T	11.37:g.119169200A>T	ENSP00000264033:p.Asn795Ile		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.N795I	ENST00000264033.4	37	c.2384	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	A	12.90	2.075626	0.36662	.	.	ENSG00000110395	ENST00000264033	T	0.78481	-1.18	5.59	5.59	0.84812	.	0.310985	0.36665	N	0.002477	T	0.66896	0.2836	L	0.29908	0.895	0.47065	D	0.999303	B	0.30763	0.294	B	0.21360	0.034	T	0.65998	-0.6032	10	0.41790	T	0.15	-41.6541	15.777	0.78228	1.0:0.0:0.0:0.0	.	795	P22681	CBL_HUMAN	I	795	ENSP00000264033:N795I	ENSP00000264033:N795I	N	+	2	0	CBL	118674410	1.000000	0.71417	0.646000	0.29493	0.963000	0.63663	4.683000	0.61679	2.120000	0.65058	0.528000	0.53228	AAT	CBL	-	NULL	ENSG00000110395		0.537	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0	58	0	A	NM_005188		119169200	1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	missense	27.71	60	23	SNP	0.982	T	T	119169200	A	T	119169200	3	4	83	1	0	0	0	0	1	0	0	0	2707	101	4	5	2442	5	CBL	11	119169200	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	5884016	119169200	15837316	199	22082											
OR8G5	219865	genome.wustl.edu	37	chr11	124135444	124135444	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatctttagtggaattaAcatccttgtccccagcctga	10	15	6	10	0	1	1	0	1	1	0	3	2	3	2	4	1	2	0	4	1	4	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr11:124135444A>C	ENST00000524943.2	+	1	722	c.722A>C	c.(721-723)aAc>aCc	p.N241T	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1	Q8NG78	OR8G5_HUMAN	olfactory receptor, family 8, subfamily G, member 5	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		AGTGGAATTAACATCCTTGTC	0.423																																					Ovarian(169;523 1969 8640 31295 51256)												0													137	138	137					11																	124135444		2101	4248	6349	SO:0001583	missense	0			BK004516	CCDS66256.1	11q24.1	2014-04-17		2004-03-10	ENSG00000255298	ENSG00000255298		"GPCR / Class A : Olfactory receptors"	19622	protein-coding gene	gene with protein product				OR8G5P, OR8G6			Standard	NM_001005198		Approved			Q8NG78	OTTHUMG00000186059	ENST00000524943.2:c.722A>C	11.37:g.124135444A>C	ENSP00000477014:p.Asn241Thr		B2RND3|Q6IEU6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N241T	ENST00000524943.2	37	c.722		11																																																																																			OR8G5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000255298		0.423	OR8G5-001	KNOWN	basic|appris_principal	protein_coding	OR8G5	HGNC	protein_coding	OTTHUMT00000387283.2	-	0	130	0	A	NM_001005198		124135444	1	tier1	-	no_errors	ENST00000524943	ensembl	human	known	74_37	missense	28.03	95	37	SNP	0.000	C	C	124135444	A	C	124135444	3	2	83	1	0	0	0	0	1	0	0	0	11275	43	2	4	724	4	OR8G5	11	124135444	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	4966244	124135444	10871072	200	22083											
USP5	8078	genome.wustl.edu	37	chr12	6968681	6968681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatgccccgacggaccCtacccaggatttcagcaccc	10	5	8	18	2	1	1	1	0	0	1	1	4	1	3	6	2	3	1	6	2	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:6968681C>T	ENST00000229268.8	+	9	1158	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	USP5_ENST00000389231.5_Missense_Mutation_p.P369L	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	369	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCGACGGACCCTACCCAGGAT	0.552																																																	0													93	85	88					12																	6968681		2203	4300	6503	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1106C>T	12.37:g.6968681C>T	ENSP00000229268:p.Pro369Leu		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.P369L	ENST00000229268.8	37	c.1106	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.298536	0.95574	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.29397	1.57;1.57	5.38	5.38	0.77491	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.99	T	0.70342	-0.4898	10	0.72032	D	0.01	-3.8274	19.3333	0.94303	0.0:1.0:0.0:0.0	.	369;369	P45974;P45974-2	UBP5_HUMAN;.	L	369	ENSP00000229268:P369L;ENSP00000373883:P369L	ENSP00000229268:P369L	P	+	2	0	USP5	6838942	1.000000	0.71417	0.991000	0.47740	0.989000	0.77384	7.609000	0.82925	2.793000	0.96121	0.655000	0.94253	CCT	USP5	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000111667		0.552	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	-	0	61	0	C			6968681	1	tier1	-	no_errors	ENST00000229268	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	6968681	C	T	6968681	3	4	83	1	0	0	0	0	1	0	0	0	17130	681	24	3	1140	3	USP5	12	6968681	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09		6968681	126883214	201	22084											
PLCZ1	89869	genome.wustl.edu	37	chr12	18872517	18872517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtagacattcacgtgaAtccatgtatcttgtaaaacc	15	11	6	9	1	2	2	1	1	1	1	3	2	3	2	2	0	2	3	2	0	6	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:18872517A>T	ENST00000266505.7	-	5	680	c.417T>A	c.(415-417)gaT>gaA	p.D139E	PLCZ1_ENST00000447925.2_Missense_Mutation_p.D137E|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.D2E					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATTCACGTGAATCCATGTATC	0.264																																																	0													51	50	50					12																	18872517		2201	4284	6485	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.417T>A	12.37:g.18872517A>T	ENSP00000266505:p.Asp139Glu			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D139E	ENST00000266505.7	37	c.417	CCDS8680.1	12	.	.	.	.	.	.	.	.	.	.	A	4.858	0.159471	0.09236	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695;ENST00000541966	T;T;T;T	0.26810	2.33;2.33;1.71;2.33	5.28	2.92	0.33932	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.996520	0.08142	N	0.991423	T	0.16727	0.0402	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.25813	-1.0121	10	0.46703	T	0.11	.	4.1681	0.10317	0.5478:0.1773:0.2748:0.0	.	139	Q86YW0	PLCZ1_HUMAN	E	139;137;2;35	ENSP00000266505:D139E;ENSP00000402358:D137E;ENSP00000443349:D2E;ENSP00000444383:D35E	ENSP00000266505:D139E	D	-	3	2	PLCZ1	18763784	0.088000	0.21588	0.187000	0.23214	0.149000	0.21700	0.452000	0.21795	0.846000	0.35142	0.482000	0.46254	GAT	PLCZ1	-	pfam_PLipase_C_EF-hand-like	ENSG00000139151		0.264	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401667.3	-	0	30	0	A	NM_033123		18872517	-1	tier1	-	no_errors	ENST00000266505	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.029	T	T	18872517	A	T	18872517	3	4	83	1	0	0	0	0	1	0	0	0	12083	98	4	5	1453	5	PLCZ1	12	18872517	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	11903836	18872517	114979378	202	22085											
LRRK2	120892	genome.wustl.edu	37	chr12	40753152	40753152	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatccacaaattcaacggaaAgaaatgtaatgtggggagga	18	7	11	5	1	1	1	1	0	0	1	2	4	2	4	1	4	1	1	1	4	6	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:40753152A>T	ENST00000298910.7	+	47	6992	c.6934A>T	c.(6934-6936)Aga>Tga	p.R2312*		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2312					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTCAACGGAAAGAAATGTAAT	0.373																																																	0													106	102	103					12																	40753152		2203	4300	6503	SO:0001587	stop_gained	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6934A>T	12.37:g.40753152A>T	ENSP00000298910:p.Arg2312*		A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R2312*	ENST00000298910.7	37	c.6934	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	47	12.987907	0.99711	.	.	ENSG00000188906	ENST00000298910	.	.	.	5.92	5.92	0.95590	.	0.385498	0.33477	N	0.004861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.371	0.83361	1.0:0.0:0.0:0.0	.	.	.	.	X	2312	.	ENSP00000298910:R2312X	R	+	1	2	LRRK2	39039419	1.000000	0.71417	0.036000	0.18154	0.315000	0.28087	7.389000	0.79806	2.267000	0.75376	0.477000	0.44152	AGA	LRRK2	-	superfamily_WD40_repeat_dom	ENSG00000188906		0.373	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	55	0	A	XM_058513		40753152	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	nonsense	20.34	47	12	SNP	0.999	T	T	40753152	A	T	40753152	4	4	83	1	0	0	0	0	0	1	0	0	9068	64	3	5	7120	5	LRRK2	12	40753152	Nonsense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	21880635	40753152	93098743	203	22086											
SMARCD1	6602	genome.wustl.edu	37	chr12	50488347	50488347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaggagattgctactctaGacaacaaggtaggggtctgt	13	9	12	7	0	2	2	0	0	2	2	2	3	2	2	0	4	4	2	0	4	6	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:50488347G>C	ENST00000394963.4	+	10	1659	c.1261G>C	c.(1261-1263)Gac>Cac	p.D421H	SMARCD1_ENST00000548573.1_Missense_Mutation_p.D219H|SMARCD1_ENST00000381513.4_Missense_Mutation_p.D421H	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						TGCTACTCTAGACAACAAGGT	0.463																																																	0													134	132	132					12																	50488347		2203	4300	6503	SO:0001583	missense	0			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.1261G>C	12.37:g.50488347G>C	ENSP00000378414:p.Asp421His			Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.D421H	ENST00000394963.4	37	c.1261	CCDS8797.2	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946279	0.92593	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000542914;ENST00000548573	T;T	0.63744	-0.06;0.02	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.85762	0.5772	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.994;0.988	D	0.88934	0.3375	10	0.87932	D	0	-16.0504	20.0173	0.97481	0.0:0.0:1.0:0.0	.	219;421;421	F8VRQ4;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	H	421;421;197;219	ENSP00000378414:D421H;ENSP00000370924:D421H	ENSP00000370924:D421H	D	+	1	0	SMARCD1	48774614	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.804000	0.99143	2.814000	0.96858	0.591000	0.81541	GAC	SMARCD1	-	NULL	ENSG00000066117		0.463	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD1	HGNC	protein_coding	OTTHUMT00000316759.2	-	0	60	0	G	NM_003076		50488347	1	tier1	-	no_errors	ENST00000394963	ensembl	human	known	74_37	missense	39.02	25	16	SNP	1.000	C	C	50488347	G	C	50488347	3	2	83	1	0	0	0	0	1	0	0	0	14822	942	33	5	1299	5	SMARCD1	12	50488347	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	9735195	50488347	83363548	204	22087											
TRHDE	29953	genome.wustl.edu	37	chr12	72771817	72771817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctatcagaagaggatccGgggactatgctctccatata	12	10	10	9	1	2	2	1	0	1	2	4	4	3	4	2	3	2	2	2	3	5	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:72771817G>A	ENST00000261180.4	+	3	1192	c.1096G>A	c.(1096-1098)Ggg>Agg	p.G366R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	366					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGAGGATCCGGGGACTATGC	0.328																																																	0													63	65	65					12																	72771817		2203	4298	6501	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1096G>A	12.37:g.72771817G>A	ENSP00000261180:p.Gly366Arg		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G366R	ENST00000261180.4	37	c.1096	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411170	0.83340	.	.	ENSG00000072657	ENST00000261180	T	0.05025	3.51	5.57	5.57	0.84162	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.00141	-1.1998	10	0.72032	D	0.01	.	19.5437	0.95283	0.0:0.0:1.0:0.0	.	366	Q9UKU6	TRHDE_HUMAN	R	366	ENSP00000261180:G366R	ENSP00000261180:G366R	G	+	1	0	TRHDE	71058084	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.235000	0.95353	2.645000	0.89757	0.585000	0.79938	GGG	TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.328	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	95	0	G	NM_013381		72771817	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	18.58	92	21	SNP	1.000	A	A	72771817	G	A	72771817	3	1	83	1	0	0	0	0	1	0	0	0	16527	1116	39	1	1106	1	TRHDE	12	72771817	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	22283470	72771817	61080078	205	22088											
CAPS2	84698	genome.wustl.edu	37	chr12	75719046	75719046	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaattctggtttgtcCatgactcagaagtccacctt	10	12	9	10	0	2	3	1	1	1	2	4	3	4	3	3	2	0	2	3	2	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:75719046C>T	ENST00000409445.3	-	3	357	c.161G>A	c.(160-162)tGg>tAg	p.W54*	CAPS2_ENST00000409799.1_Nonsense_Mutation_p.W42*|CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000442339.2_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	54							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CTGGTTTGTCCATGACTCAGA	0.303																																																	0													147	123	130					12																	75719046		692	1591	2283	SO:0001587	stop_gained	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"EF-hand domain containing"	16471	protein-coding gene	gene with protein product		607724	"calcyphosphine 2"			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.161G>A	12.37:g.75719046C>T	ENSP00000386959:p.Trp54*		Q6PH84|Q8N242|Q8NAY5	Nonsense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.W54*	ENST00000409445.3	37	c.161	CCDS9008.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.310778|5.310778	0.95629|0.95629	.|.	.|.	ENSG00000180881|ENSG00000180881	ENST00000436898|ENST00000409799;ENST00000409445	T|.	0.40476|.	1.03|.	4.75|4.75	3.86|3.86	0.44501|0.44501	.|.	.|0.568522	.|0.14953	.|N	.|0.288810	T|.	0.29749|.	0.0743|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.10222|.	-1.0639|.	6|.	0.87932|0.02654	D|T	0|1	.|.	8.83|8.83	0.35078|0.35078	0.0:0.8978:0.0:0.1022|0.0:0.8978:0.0:0.1022	.|.	.|.	.|.	.|.	I|X	1|42;54	ENSP00000411797:M1I|.	ENSP00000411797:M1I|ENSP00000386959:W54X	M|W	-|-	3|2	0|0	CAPS2|CAPS2	74005313|74005313	0.015000|0.015000	0.18098|0.18098	0.749000|0.749000	0.31150|0.31150	0.785000|0.785000	0.44390|0.44390	0.637000|0.637000	0.24659|0.24659	1.358000|1.358000	0.45922|0.45922	0.650000|0.650000	0.86243|0.86243	ATG|TGG	CAPS2	-	NULL	ENSG00000180881		0.303	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	-	0	42	0	C			75719046	-1	tier1	-	no_errors	ENST00000409445	ensembl	human	known	74_37	nonsense	20.00	28	7	SNP	0.857	T	T	75719046	C	T	75719046	4	4	83	1	0	0	0	0	0	1	0	0	2645	595	21	3	1576	3	CAPS2	12	75719046	Nonsense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	2947229	75719046	58132849	206	22089											
PPFIA2	8499	genome.wustl.edu	37	chr12	81741361	81741361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctggcagggcttcgagggGtgagctttggagttgagtgt	5	11	18	7	1	0	2	0	2	0	0	1	4	0	3	1	5	1	4	1	5	0	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:81741361G>A	ENST00000549396.1	-	18	2343	c.2183C>T	c.(2182-2184)aCc>aTc	p.T728I	PPFIA2_ENST00000550359.2_Missense_Mutation_p.T575I|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.T728I|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T728I|PPFIA2_ENST00000541570.2_Missense_Mutation_p.T295I|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T710I|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T629I|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T654I|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T728I|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T710I	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	728					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTCGAGGGGTGAGCTTTGG	0.532																																																	0													148	152	151					12																	81741361		1999	4158	6157	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9246	protein-coding gene	gene with protein product	"Liprin-alpha2"	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2183C>T	12.37:g.81741361G>A	ENSP00000450337:p.Thr728Ile		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.T728I	ENST00000549396.1	37	c.2183	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147132	0.57151	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.51	5.51	0.81932	.	0.119358	0.56097	D	0.000022	T	0.37210	0.0995	L	0.35487	1.065	0.80722	D	1	P	0.42039	0.769	B	0.41299	0.353	T	0.04885	-1.0920	10	0.18710	T	0.47	-14.8185	19.7929	0.96466	0.0:0.0:1.0:0.0	.	728	O75334	LIPA2_HUMAN	I	728;710;295;654;739;710;728;629;728	ENSP00000450337:T728I;ENSP00000450298:T710I;ENSP00000438337:T295I;ENSP00000385093:T654I;ENSP00000327416:T710I;ENSP00000449338:T728I;ENSP00000388373:T629I;ENSP00000447868:T728I	ENSP00000327416:T710I	T	-	2	0	PPFIA2	80265492	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.483000	0.60264	2.741000	0.93983	0.650000	0.86243	ACC	PPFIA2	-	NULL	ENSG00000139220		0.532	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0	74	0	G			81741361	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	A	A	81741361	G	A	81741361	3	1	83	1	0	0	0	0	1	0	0	0	12349	1261	44	3	1650	3	PPFIA2	12	81741361	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	6022315	81741361	52110534	207	22090											
FGD6	55785	genome.wustl.edu	37	chr12	95603631	95603631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttgcatttgaggggCagaaactcccaggtttctcc	7	14	9	11	0	1	2	0	1	1	1	4	2	3	2	3	3	2	3	3	3	1	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:95603631C>T	ENST00000343958.4	-	2	1652	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	FGD6_ENST00000549499.1_Missense_Mutation_p.A477T|FGD6_ENST00000546711.1_Missense_Mutation_p.A477T|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	477					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATTTGAGGGGCAGAAACTCCC	0.413																																																	0													63	67	66					12																	95603631		2203	4300	6503	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1429G>A	12.37:g.95603631C>T	ENSP00000344446:p.Ala477Thr		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A477T	ENST00000343958.4	37	c.1429	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	C	11.23	1.576540	0.28092	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.68025	-0.2;-0.3;-0.22	6.04	1.95	0.26073	.	0.957795	0.08612	N	0.919851	T	0.53077	0.1774	L	0.47716	1.5	0.09310	N	1	P	0.38922	0.651	B	0.25140	0.058	T	0.36114	-0.9761	10	0.45353	T	0.12	2.3421	8.9586	0.35834	0.0:0.6324:0.1458:0.2218	.	477	Q6ZV73	FGD6_HUMAN	T	477	ENSP00000344446:A477T;ENSP00000450342:A477T;ENSP00000449005:A477T	ENSP00000344446:A477T	A	-	1	0	FGD6	94127762	0.001000	0.12720	0.004000	0.12327	0.975000	0.68041	-0.162000	0.10012	0.458000	0.26988	-0.258000	0.10820	GCC	FGD6	-	NULL	ENSG00000180263		0.413	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1		0	94	0	C	NM_018351		95603631	-1			no_errors	ENST00000343958	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.002	T	T	95603631	C	T	95603631	3	4	83	1	0	0	0	0	1	0	0	0	5859	710	25	3	2943	3	FGD6	12	95603631	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	13862270	95603631	38248264	208	22091											
UTP20	27340	genome.wustl.edu	37	chr12	101777368	101777368	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccgtagcaatggatcttggGatagacaaggtaaagccgta	13	8	13	7	2	1	1	0	0	1	1	1	3	1	3	2	3	2	4	2	3	7	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:101777368G>C	ENST00000261637.4	+	60	8151	c.7977G>C	c.(7975-7977)ggG>ggC	p.G2659G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2659					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGGATCTTGGGATAGACAAGG	0.433																																																	0													146	126	133					12																	101777368		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"down regulated in metastasis"	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7977G>C	12.37:g.101777368G>C			Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.G2659	ENST00000261637.4	37	c.7977	CCDS9081.1	12																																																																																			UTP20	-	NULL	ENSG00000120800		0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	-	0	54	0	G	NM_014503		101777368	1	tier1	-	no_errors	ENST00000261637	ensembl	human	known	74_37	silent	61.90	16	26	SNP	0.000	C	C	101777368	G	C	101777368	2	2	83	1	0	0	0	0	0	0	0	1	17148	1161	41	5		5	UTP20	12	101777368	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	6173737	101777368	32074527	209	22092											
PLBD2	196463	genome.wustl.edu	37	chr12	113821938	113821938	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaccaccattggcaacaAgaacccagccctgtggaagt	13	5	11	12	0	0	2	0	0	0	2	0	4	0	3	4	3	3	1	4	3	4	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:113821938A>C	ENST00000280800.3	+	7	1017	c.986A>C	c.(985-987)aAg>aCg	p.K329T	PLBD2_ENST00000545182.2_Missense_Mutation_p.K329T	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	329					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATTGGCAACAAGAACCCAGCC	0.617																																																	0													69	61	64					12																	113821938		2203	4300	6503	SO:0001583	missense	0			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"PLB homolog 2 (Dictyostelium)", "mannose-6-phosphate protein associated protein p76"					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.986A>C	12.37:g.113821938A>C	ENSP00000280800:p.Lys329Thr		F5H5E2	Missense_Mutation	SNP	pfam_PLipase_B-like	p.K329T	ENST00000280800.3	37	c.986	CCDS9168.1	12	.	.	.	.	.	.	.	.	.	.	A	9.616	1.132596	0.21041	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.17370	2.28;2.28	4.84	-2.57	0.06248	.	0.722612	0.13003	N	0.421508	T	0.14141	0.0342	L	0.39633	1.23	0.23401	N	0.997756	B;B	0.15930	0.015;0.004	B;B	0.28991	0.02;0.097	T	0.40327	-0.9569	10	0.18710	T	0.47	-12.2249	12.9608	0.58458	0.3966:0.0:0.6034:0.0	.	329;329	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	T	329	ENSP00000443463:K329T;ENSP00000280800:K329T	ENSP00000280800:K329T	K	+	2	0	PLBD2	112306321	0.992000	0.36948	0.993000	0.49108	0.957000	0.61999	0.336000	0.19823	-0.259000	0.09432	0.254000	0.18369	AAG	PLBD2	-	pfam_PLipase_B-like	ENSG00000151176		0.617	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD2	HGNC	protein_coding	OTTHUMT00000404835.1	-	0	71	0	A	NM_173542		113821938	1	tier1	-	no_errors	ENST00000280800	ensembl	human	known	74_37	missense	47.92	25	23	SNP	0.927	C	C	113821938	A	C	113821938	3	2	83	1	0	0	0	0	1	0	0	0	12065	72	3	4	1012	4	PLBD2	12	113821938	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	12044570	113821938	20029957	210	22093											
PITPNM2	57605	genome.wustl.edu	37	chr12	123498552	123498552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttctccaggatctccacgCcgctgccttcgccatatgtc	5	11	9	16	3	2	0	0	0	2	0	6	1	2	1	5	2	1	2	5	2	1	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr12:123498552C>T	ENST00000542749.1	-	2	179	c.116G>A	c.(115-117)gGc>gAc	p.G39D	PITPNM2_ENST00000280562.5_Missense_Mutation_p.G39D|PITPNM2_ENST00000392428.1_Missense_Mutation_p.G39D|PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000320201.4_Missense_Mutation_p.G39D|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000546049.1_Missense_Mutation_p.G39D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	39					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GATCTCCACGCCGCTGCCTTC	0.592																																																	0													116	98	104					12																	123498552		2203	4300	6503	SO:0001583	missense	0			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.116G>A	12.37:g.123498552C>T	ENSP00000437611:p.Gly39Asp		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.G39D	ENST00000542749.1	37	c.116	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024885	0.93518	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749;ENST00000542210	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	4.42	4.42	0.53409	START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86619	0.5976	H	0.97340	3.985	0.43047	D	0.994649	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92228	0.5790	10	0.87932	D	0	-33.2154	17.4015	0.87461	0.0:1.0:0.0:0.0	.	39;39;39	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	D	39	ENSP00000280562:G39D;ENSP00000322218:G39D;ENSP00000376223:G39D;ENSP00000437611:G39D;ENSP00000437869:G39D	ENSP00000280562:G39D	G	-	2	0	PITPNM2	122064505	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.627000	0.83176	2.168000	0.68352	0.655000	0.94253	GGC	PITPNM2	-	pfam_PI_transfer	ENSG00000090975		0.592	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0	35	0	C	NM_020845		123498552	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	51.85	13	14	SNP	1.000	T	T	123498552	C	T	123498552	3	4	83	1	0	0	0	0	1	0	0	0	11990	739	26	3	4025	3	PITPNM2	12	123498552	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	9676614	123498552	10353343	211	22094											
TUBA3C	7278	genome.wustl.edu	37	chr13	19751406	19751406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaaatcgcagggaggcCgtgatggaggacacgatctg	10	6	15	10	4	2	1	1	1	1	0	3	5	2	4	2	4	0	1	2	4	1	0	rs397839852		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:19751406C>T	ENST00000400113.3	-	4	821	c.717G>A	c.(715-717)acG>acA	p.T239T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	239					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCAGGGAGGCCGTGATGGAGG	0.582													C|||	1	0.000199681	0	0	5008	,	,		19674	0		0	False		,,,				2504	0.001																0													164	141	148					13																	19751406		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.717G>A	13.37:g.19751406C>T			A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.T239	ENST00000400113.3	37	c.717	CCDS9284.1	13																																																																																			TUBA3C	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000198033		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	148	0	C	NM_006001		19751406	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	silent	29.30	111	46	SNP	0.989	T	T	19751406	C	T	19751406	2	4	83	1	0	0	0	0	0	0	0	1	16795	639	23	1		1	TUBA3C	13	19751406	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09		19751406	95418472	212	22095											
TNFRSF19	55504	genome.wustl.edu	37	chr13	24190184	24190184	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgcggggactgcttgccagGgtgagttggccagtttcttt	4	13	15	9	1	1	1	0	1	1	0	1	2	1	2	2	4	3	3	2	4	0	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:24190184G>C	ENST00000382258.4	+	4	563	c.359G>C	c.(358-360)gGa>gCa	p.G120A	TNFRSF19_ENST00000248484.4_Splice_Site_p.G120A|TNFRSF19_ENST00000403372.2_5'UTR|TNFRSF19_ENST00000382263.3_Splice_Site_p.G120A	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	120					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGCTTGCCAGGGTGAGTTGGC	0.448																																																	0													60	61	61					13																	24190184		2203	4300	6503	SO:0001630	splice_region_variant	0			AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"Tumor necrosis factor receptor superfamily"	11915	protein-coding gene	gene with protein product	"toxicity and JNK inducer"	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.359+1G>C	13.37:g.24190184G>C			A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19	p.G120A	ENST00000382258.4	37	c.359	CCDS9302.1	13	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644676	0.87859	.	.	ENSG00000127863	ENST00000248484;ENST00000382258;ENST00000382263	T;T;T	0.62364	1.4;0.03;1.4	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87596	0.2494	10	0.87932	D	0	-17.9934	19.3317	0.94293	0.0:0.0:1.0:0.0	.	120;120	Q9NS68;Q9NS68-2	TNR19_HUMAN;.	A	120	ENSP00000248484:G120A;ENSP00000371693:G120A;ENSP00000371698:G120A	ENSP00000248484:G120A	G	+	2	0	TNFRSF19	23088184	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	9.476000	0.97823	2.582000	0.87167	0.561000	0.74099	GGA	TNFRSF19	-	NULL	ENSG00000127863		0.448	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	TNFRSF19	HGNC	protein_coding	OTTHUMT00000044156.2	-	0	52	0	G	NM_018647	Missense_Mutation	24190184	1	tier1	-	no_errors	ENST00000382258	ensembl	human	known	74_37	missense	60.87	9	14	SNP	1.000	C	C	24190184	G	C	24190184	5	2	83	1	0	0	0	0	0	0	1	0	16339	1246	43	5	369	5	TNFRSF19	13	24190184	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	4438778	24190184	90979694	213	22096											
RNF6	6049	genome.wustl.edu	37	chr13	26789577	26789577	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatttccaaactaaaccGaaactctccattgttcgggt	11	12	8	10	2	1	0	0	0	1	0	4	2	2	1	3	2	3	1	3	2	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:26789577G>T	ENST00000381588.4	-	5	1194	c.442C>A	c.(442-444)Cgg>Agg	p.R148R	RNF6_ENST00000346166.3_Silent_p.R148R|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Silent_p.R148R|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	148					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R148W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		AAACTAAACCGAAACTCTCCA	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)											126	113	117					13																	26789577		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"RING-type (C3HC4) zinc fingers"	10069	protein-coding gene	gene with protein product	"RING-H2 protein RNF-6"	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.442C>A	13.37:g.26789577G>T			B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R148	ENST00000381588.4	37	c.442	CCDS9316.1	13																																																																																			RNF6	-	NULL	ENSG00000127870		0.408	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF6	HGNC	protein_coding	OTTHUMT00000044246.2		0	77	0	G	NM_005977		26789577	-1			no_errors	ENST00000346166	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.999	T	T	26789577	G	T	26789577	2	4	83	1	0	0	0	0	0	0	0	1	13543	1057	37	2		2	RNF6	13	26789577	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2599393	26789577	88380301	214	22097											
MTUS2	23281	genome.wustl.edu	37	chr13	29855933	29855933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccgggtggcccctccaGcatcctccagtgtgacagca	6	6	12	17	2	0	1	0	1	0	0	3	1	3	1	7	3	2	2	7	3	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:29855933G>A	ENST00000431530.3	+	4	2825	c.2767G>A	c.(2767-2769)Gca>Aca	p.A923T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	913	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCCCTCCAGCATCCTCCAG	0.577																																																	0													42	44	43					13																	29855933		1874	4111	5985	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2767G>A	13.37:g.29855933G>A	ENSP00000392057:p.Ala923Thr		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.A923T	ENST00000431530.3	37	c.2767	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	G	8.328	0.825825	0.16749	.	.	ENSG00000132938	ENST00000431530	T	0.14266	2.52	4.87	0.836	0.18891	.	0.759646	0.11752	N	0.532919	T	0.07098	0.0180	N	0.22421	0.69	0.09310	N	0.999999	B	0.27351	0.176	B	0.24541	0.054	T	0.39563	-0.9608	9	.	.	.	.	2.8301	0.05497	0.1702:0.1352:0.5464:0.1483	.	913	Q5JR59	MTUS2_HUMAN	T	923	ENSP00000392057:A923T	.	A	+	1	0	MTUS2	28753933	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	1.234000	0.32660	0.011000	0.14865	0.655000	0.94253	GCA	MTUS2	-	NULL	ENSG00000132938		0.577	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0	94	0	G	XM_166270		29855933	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.001	A	A	29855933	G	A	29855933	3	1	83	1	0	0	0	0	1	0	0	0	10004	971	34	3	2781	3	MTUS2	13	29855933	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3066356	29855933	85313945	215	22098											
RXFP2	122042	genome.wustl.edu	37	chr13	32376333	32376333	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttccagttaacagtgctTtgaatccaatcctctatact	10	15	4	12	0	1	1	0	1	1	0	5	1	5	1	4	0	3	2	4	0	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:32376333T>A	ENST00000298386.2	+	18	2127	c.2056T>A	c.(2056-2058)Ttg>Atg	p.L686M	RXFP2_ENST00000380314.1_Missense_Mutation_p.L662M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	686					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TAACAGTGCTTTGAATCCAAT	0.333																																																	0													89	88	88					13																	32376333		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2056T>A	13.37:g.32376333T>A	ENSP00000298386:p.Leu686Met		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.L686M	ENST00000298386.2	37	c.2056	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834352	0.71373	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.49432	0.78;0.78	5.68	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.66356	0.2781	M	0.80508	2.5	0.44254	D	0.997103	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68588	-0.5369	10	0.52906	T	0.07	.	8.8955	0.35460	0.0:0.1186:0.0:0.8814	.	662;686	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	M	662;686	ENSP00000369670:L662M;ENSP00000298386:L686M	ENSP00000298386:L686M	L	+	1	2	RXFP2	31274333	0.991000	0.36638	1.000000	0.80357	0.986000	0.74619	0.496000	0.22499	2.175000	0.68902	0.533000	0.62120	TTG	RXFP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000133105		0.333	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0	71	0	T	NM_130806		32376333	1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	32376333	T	A	32376333	3	1	83	1	0	0	0	0	1	0	0	0	13805	1838	64	5	2126	5	RXFP2	13	32376333	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	2520400	32376333	82793545	216	22099											
EPSTI1	94240	genome.wustl.edu	37	chr13	43469163	43469163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagctgttaccgctattCatattccaacagcctccaga	11	10	5	15	1	1	1	1	0	0	1	3	1	3	1	5	0	4	3	5	0	4	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:43469163C>T	ENST00000398762.3	-	11	929	c.930G>A	c.(928-930)atG>atA	p.M310I	EPSTI1_ENST00000313640.7_Missense_Mutation_p.M310I|EPSTI1_ENST00000313624.7_Missense_Mutation_p.M299I			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	310										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TACCGCTATTCATATTCCAAC	0.358																																																	0													57	57	57					13																	43469163		2203	4300	6503	SO:0001583	missense	0			AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"epithelial stromal interaction protein 1"	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.930G>A	13.37:g.43469163C>T	ENSP00000381746:p.Met310Ile		Q8IVC7|Q8NDQ7	Missense_Mutation	SNP	NULL	p.M310I	ENST00000398762.3	37	c.930	CCDS9387.1	13	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357630	0.61293	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	T	0.28895	1.59	5.41	4.55	0.56014	.	0.390815	0.26563	N	0.023664	T	0.35128	0.0921	M	0.65975	2.015	0.28222	N	0.926485	P;P	0.38078	0.573;0.617	B;B	0.38378	0.272;0.173	T	0.35301	-0.9794	10	0.62326	D	0.03	-3.8408	13.6672	0.62403	0.0:0.8447:0.1553:0.0	.	299;310	Q96J88-2;Q96J88-3	.;.	I	310;299;310	ENSP00000318982:M310I	ENSP00000318643:M299I	M	-	3	0	EPSTI1	42367163	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.571000	0.60879	1.391000	0.46566	0.561000	0.74099	ATG	EPSTI1	-	NULL	ENSG00000133106		0.358	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	EPSTI1	HGNC	protein_coding	OTTHUMT00000400321.1	-	0	90	0	C	NM_001002264		43469163	-1	tier1	-	no_errors	ENST00000313640	ensembl	human	known	74_37	missense	57.14	18	24	SNP	1.000	T	T	43469163	C	T	43469163	3	4	83	1	0	0	0	0	1	0	0	0	5214	826	29	3	314	3	EPSTI1	13	43469163	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	11092830	43469163	71700715	217	22100											
GPC6	10082	genome.wustl.edu	37	chr13	94680021	94680021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatccgtgccctcatgaaGatgctgtactgcccatactg	8	12	9	12	1	1	2	1	1	0	1	2	2	2	2	3	0	5	3	3	0	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:94680021G>T	ENST00000377047.4	+	4	1365	c.750G>T	c.(748-750)aaG>aaT	p.K250N	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	250					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCCTCATGAAGATGCTGTACT	0.483																																																	0													155	143	147					13																	94680021		2203	4300	6503	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.750G>T	13.37:g.94680021G>T	ENSP00000366246:p.Lys250Asn		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.K250N	ENST00000377047.4	37	c.750	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.499060	0.96355	.	.	ENSG00000183098	ENST00000377047	T	0.61742	0.08	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	M	0.87328	2.875	0.58432	D	0.999999	P;P	0.51147	0.74;0.942	P;P	0.62298	0.588;0.9	T	0.81284	-0.1002	10	0.66056	D	0.02	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	250;250	B4E2M1;Q9Y625	.;GPC6_HUMAN	N	250	ENSP00000366246:K250N	ENSP00000366246:K250N	K	+	3	2	GPC6	93478022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.969000	0.87988	2.809000	0.96659	0.655000	0.94253	AAG	GPC6	-	pfam_Glypican	ENSG00000183098		0.483	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0	74	0	G	NM_005708		94680021	1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	missense	24.05	58	19	SNP	1.000	T	T	94680021	G	T	94680021	3	4	83	1	0	0	0	0	1	0	0	0	6628	933	33	3	764	3	GPC6	13	94680021	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	51210858	94680021	20489857	218	22101			1	18		3	3	121	N	G_A	7.154316e-07
GPC6	10082	genome.wustl.edu	37	chr13	94680086	94680086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaacaactactgtctcaAcgtcatgaagggctgcttgg	10	10	10	11	1	2	1	2	1	1	0	3	1	2	1	0	2	6	3	0	2	5	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:94680086A>G	ENST00000377047.4	+	4	1430	c.815A>G	c.(814-816)aAc>aGc	p.N272S	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	272					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TACTGTCTCAACGTCATGAAG	0.527																																																	0													162	147	152					13																	94680086		2203	4300	6503	SO:0001583	missense	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.815A>G	13.37:g.94680086A>G	ENSP00000366246:p.Asn272Ser		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.N272S	ENST00000377047.4	37	c.815	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401313	0.83120	.	.	ENSG00000183098	ENST00000377047	T	0.57595	0.39	5.92	5.92	0.95590	Glypican, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93594	3.435	0.53005	D	0.999966	D;D	0.89917	0.994;1.0	D;D	0.91635	0.967;0.999	D	0.84998	0.0898	10	0.62326	D	0.03	.	16.3631	0.83280	1.0:0.0:0.0:0.0	.	272;272	B4E2M1;Q9Y625	.;GPC6_HUMAN	S	272	ENSP00000366246:N272S	ENSP00000366246:N272S	N	+	2	0	GPC6	93478087	1.000000	0.71417	0.989000	0.46669	0.680000	0.39746	9.303000	0.96183	2.266000	0.75297	0.533000	0.62120	AAC	GPC6	-	pfam_Glypican	ENSG00000183098		0.527	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0	74	0	A	NM_005708		94680086	1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	missense	26.92	57	21	SNP	1.000	G	G	94680086	A	G	94680086	3	3	83	1	0	0	0	0	1	0	0	0	6628	43	2	4	829	4	GPC6	13	94680086	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	65	94680086	20489792	219	22102			1	18		3	3	121	N	G_A	7.154316e-07
GPC6	10082	genome.wustl.edu	37	chr13	94680141	94680141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacacagagtggaatctGtttataggtaagaagtgttt	12	13	11	5	1	1	2	0	0	1	2	2	4	1	3	0	2	0	3	0	2	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:94680141G>A	ENST00000377047.4	+	4	1485	c.870G>A	c.(868-870)ctG>ctA	p.L290L	RNA5SP35_ENST00000391257.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	290					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGTGGAATCTGTTTATAGGTA	0.493																																																	0													101	94	96					13																	94680141		2203	4300	6503	SO:0001819	synonymous_variant	0			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"Proteoglycans / Cell Surface : Glypicans"	4454	protein-coding gene	gene with protein product	"glypican proteoglycan 6"	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.870G>A	13.37:g.94680141G>A			A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	pfam_Glypican	p.L290	ENST00000377047.4	37	c.870	CCDS9469.1	13																																																																																			GPC6	-	pfam_Glypican	ENSG00000183098		0.493	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	-	0	63	0	G	NM_005708		94680141	1	tier1	-	no_errors	ENST00000377047	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.984	A	A	94680141	G	A	94680141	2	1	83	1	0	0	0	0	0	0	0	1	6628	1364	48	3		3	GPC6	13	94680141	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	55	94680141	20489737	220	22103			1	18		3	3	121	N	G_A	7.154316e-07
RAP2A	5911	genome.wustl.edu	37	chr13	98116495	98116495	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatcttggttgggaacaaAgtggacctggaaagtgagag	12	9	15	5	0	2	1	1	1	1	1	2	5	2	4	1	4	1	1	1	4	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:98116495A>T	ENST00000245304.4	+	2	600	c.351A>T	c.(349-351)aaA>aaT	p.K117N		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	117					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			TTGGGAACAAAGTGGACCTGG	0.448																																																	0													103	104	103					13																	98116495		2203	4300	6503	SO:0001583	missense	0			AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.351A>T	13.37:g.98116495A>T	ENSP00000245304:p.Lys117Asn		B2RCJ1|Q5JSC1|Q5JSC2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K117N	ENST00000245304.4	37	c.351	CCDS9485.1	13	.	.	.	.	.	.	.	.	.	.	A	18.50	3.638304	0.67130	.	.	ENSG00000125249	ENST00000245304	D	0.94650	-3.48	5.67	4.5	0.54988	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98047	1.0385	10	0.87932	D	0	.	11.2199	0.48848	0.9289:0.0:0.0711:0.0	.	117	P10114	RAP2A_HUMAN	N	117	ENSP00000245304:K117N	ENSP00000245304:K117N	K	+	3	2	RAP2A	96914496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.750000	0.47500	1.010000	0.39314	0.451000	0.29950	AAA	RAP2A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000125249		0.448	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2A	HGNC	protein_coding	OTTHUMT00000045528.4	-	0	23	0	A			98116495	1	tier1	-	no_errors	ENST00000245304	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T	T	98116495	A	T	98116495	3	4	83	1	0	0	0	0	1	0	0	0	13085	69	3	5	357	5	RAP2A	13	98116495	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	3436354	98116495	17053383	221	22104											
ZNF828	283489	genome.wustl.edu	37	chr13	115090509	115090509	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctggcccaccagaactcCgaaagacagctcccacgttg	11	6	9	15	2	1	2	0	0	1	2	3	3	3	2	4	1	2	2	4	1	2	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr13:115090509C>T	ENST00000361283.1	+	3	1501	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	398	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										ACCAGAACTCCGAAAGACAGC	0.562																																																	0													98	102	101					13																	115090509		2203	4300	6503	SO:0001587	stop_gained	0			AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"Zinc fingers, C2H2-type"	20311	protein-coding gene	gene with protein product	"chromosome alignment-maintaining phosphoprotein"		"chromosome 13 open reading frame 8", "zinc finger protein 828"	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1192C>T	13.37:g.115090509C>T	ENSP00000354730:p.Arg398*		B3KU06|Q6P181|Q8NC88|Q9BST0	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R398*	ENST00000361283.1	37	c.1192	CCDS9545.1	13	.	.	.	.	.	.	.	.	.	.	C	38	7.234777	0.98154	.	.	ENSG00000198824	ENST00000361283	.	.	.	5.92	5.07	0.68467	.	0.000000	0.44688	D	0.000436	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.4864	12.0896	0.53717	0.312:0.688:0.0:0.0	.	.	.	.	X	398	.	.	R	+	1	2	ZNF828	114108611	0.373000	0.25073	0.996000	0.52242	0.986000	0.74619	0.400000	0.20932	1.478000	0.48253	0.655000	0.94253	CGA	CHAMP1	-	NULL	ENSG00000198824		0.562	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAMP1	HGNC	protein_coding	OTTHUMT00000045977.2	-	0	47	0	C	NM_032436		115090509	1	tier1	-	no_errors	ENST00000361283	ensembl	human	known	74_37	nonsense	46.94	26	23	SNP	0.995	T	T	115090509	C	T	115090509	4	4	83	1	0	0	0	0	0	1	0	0	18229	644	23	1	1194	1	ZNF828	13	115090509	Nonsense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	16974014	115090509	79369	222	22105											
CHD8	57680	genome.wustl.edu	37	chr14	21853819	21853819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagttagctggcatcatagGatcatcaatgagtgagaagt	13	11	12	5	0	3	3	3	3	0	1	3	5	3	4	0	2	1	3	0	2	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:21853819G>C	ENST00000557364.1	-	38	7962	c.7699C>G	c.(7699-7701)Cct>Gct	p.P2567A	CHD8_ENST00000430710.3_Missense_Mutation_p.P2288A|CHD8_ENST00000399982.2_Missense_Mutation_p.P2567A|SUPT16H_ENST00000555943.1_5'Flank|SUPT16H_ENST00000216297.2_5'Flank|RP11-524O1.4_ENST00000565098.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2567	Asp-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGCATCATAGGATCATCAATG	0.478																																																	0													53	57	56					14																	21853819		1638	3110	4748	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7699C>G	14.37:g.21853819G>C	ENSP00000451601:p.Pro2567Ala		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2567A	ENST00000557364.1	37	c.7699	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064051	0.55432	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.92965	-3.08;-3.14;-3.14	5.26	5.26	0.73747	.	0.164825	0.41097	D	0.000944	D	0.91143	0.7211	N	0.08118	0	0.35524	D	0.801714	D	0.67145	0.996	D	0.73708	0.981	D	0.93560	0.6894	10	0.39692	T	0.17	-10.5559	17.6464	0.88149	0.0:0.0:1.0:0.0	.	2288	Q9HCK8-2	.	A	2288;2567;2287;2567	ENSP00000406288:P2288A;ENSP00000382863:P2567A;ENSP00000451601:P2567A	ENSP00000262707:P2287A	P	-	1	0	CHD8	20923659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.581000	0.67471	2.461000	0.83175	0.655000	0.94253	CCT	CHD8	-	NULL	ENSG00000100888		0.478	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0	52	0	G	NM_020920		21853819	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	C	C	21853819	G	C	21853819	3	2	83	1	0	0	0	0	1	0	0	0	3338	1174	41	5	50	5	CHD8	14	21853819	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		21853819	85495721	223	22106											
SALL2	6297	genome.wustl.edu	37	chr14	21990864	21990864	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtggggtcatcttttcGgggaaagggggagagccctg	7	9	18	7	2	2	1	1	0	1	1	4	4	2	2	1	6	1	0	1	6	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:21990864G>T	ENST00000327430.3	-	2	3292	c.2998C>A	c.(2998-3000)Cga>Aga	p.R1000R	SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	1000					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TCATCTTTTCGGGGAAAGGGG	0.542																																																	0													69	74	72					14																	21990864		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"Zinc fingers, C2H2-type"	10526	protein-coding gene	gene with protein product		602219	"sal (Drosophila)-like 2", "sal-like 2 (Drosophila)"			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2998C>A	14.37:g.21990864G>T			B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1000	ENST00000327430.3	37	c.2998	CCDS32045.1	14																																																																																			SALL2	-	NULL	ENSG00000165821		0.542	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1		0	47	0	G	NM_005407		21990864	-1			no_errors	ENST00000327430	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.545	T	T	21990864	G	T	21990864	2	4	83	1	0	0	0	0	0	0	0	1	13856	1124	39	2		2	SALL2	14	21990864	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	137045	21990864	85358676	224	22107											
SLC7A7	9056	genome.wustl.edu	37	chr14	23243154	23243154	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcttacccacgatccttcGgaggtaaagcggtcgcttat	8	10	11	12	5	0	0	0	0	0	0	3	2	1	1	2	4	2	3	2	4	4	4	rs386833808		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:23243154G>T	ENST00000397532.3	-	9	1942	c.1417C>A	c.(1417-1419)Cga>Aga	p.R473R	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.R473R|SLC7A7_ENST00000397529.2_Silent_p.R473R|SLC7A7_ENST00000554517.1_Silent_p.R207R|SLC7A7_ENST00000555702.1_Silent_p.R473R|SLC7A7_ENST00000285850.7_Silent_p.R473R			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	473					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACGATCCTTCGGAGGTAAAGC	0.493																																																	0			GRCh37	CM000427	SLC7A7	M							85	76	79					14																	23243154		2203	4300	6503	SO:0001819	synonymous_variant	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1417C>A	14.37:g.23243154G>T			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.R473	ENST00000397532.3	37	c.1417	CCDS9574.1	14																																																																																			SLC7A7	-	pirsf_AA/rel_permease1	ENSG00000155465		0.493	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	-	0	43	0	G			23243154	-1	tier1	-	no_errors	ENST00000285850	ensembl	human	known	74_37	silent	10.00	27	3	SNP	1.000	T	T	23243154	G	T	23243154	2	4	83	1	0	0	0	0	0	0	0	1	14748	1124	39	2		2	SLC7A7	14	23243154	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1252290	23243154	84106386	225	22108											
FOXG1	2290	genome.wustl.edu	37	chr14	29237869	29237869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttaagaccctctttgccaAgttttacgacgggactgtct	8	14	8	11	2	2	1	0	0	2	1	2	3	2	2	2	1	2	1	2	1	3	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:29237869A>G	ENST00000313071.4	+	1	1583	c.1384A>G	c.(1384-1386)Agt>Ggt	p.S462G	FOXG1_ENST00000382535.3_Missense_Mutation_p.S462G	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	462					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CTCTTTGCCAAGTTTTACGAC	0.557																																																	0													84	83	83					14																	29237869		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1384A>G	14.37:g.29237869A>G	ENSP00000339004:p.Ser462Gly		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S462G	ENST00000313071.4	37	c.1384	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484869	0.26598	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93659	-3.26;-3.26	4.14	4.14	0.48551	.	0.118050	0.53938	U	0.000046	D	0.85643	0.5744	N	0.14661	0.345	0.36579	D	0.873448	B	0.25667	0.131	B	0.25140	0.058	D	0.85349	0.1100	10	0.66056	D	0.02	.	9.0165	0.36173	0.911:0.0:0.089:0.0	.	462	P55316	FOXG1_HUMAN	G	462	ENSP00000371975:S462G;ENSP00000339004:S462G	ENSP00000339004:S462G	S	+	1	0	FOXG1	28307620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.591000	0.67536	1.633000	0.50488	0.402000	0.26972	AGT	FOXG1	-	NULL	ENSG00000176165		0.557	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	85	0	A			29237869	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	34.78	60	32	SNP	1.000	G	G	29237869	A	G	29237869	3	3	83	1	0	0	0	0	1	0	0	0	6031	72	3	4	1386	4	FOXG1	14	29237869	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	5994715	29237869	78111671	226	22109											
SNX6	58533	genome.wustl.edu	37	chr14	35074923	35074923	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggtggtgctggtggaaTctgtaacaggaccaaatgac	10	11	13	7	0	2	1	0	1	2	0	2	3	2	3	1	5	2	2	1	5	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:35074923T>C	ENST00000362031.4	-	5	337	c.307A>G	c.(307-309)Att>Gtt	p.I103V	SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396534.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	91	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Phosphatidylinositol bisphosphate binding. {ECO:0000250}.				intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GCTGGTGGAATCTGTAACAGG	0.413																																																	0													92	86	88					14																	35074923		2203	4300	6503	SO:0001630	splice_region_variant	0			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"Sorting nexins"	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.307-1A>G	14.37:g.35074923T>C			C0H5W9|Q9Y449	Missense_Mutation	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.I103V	ENST00000362031.4	37	c.307	CCDS41942.1	14	.	.	.	.	.	.	.	.	.	.	T	15.58	2.876133	0.51801	.	.	ENSG00000129515	ENST00000362031;ENST00000557265;ENST00000555648	T;T;T	0.42513	0.97;0.97;0.97	5.07	5.07	0.68467	Phox homologous domain (4);	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	L	0.47078	1.49	0.80722	D	1	B	0.31153	0.31	P	0.51742	0.678	T	0.49322	-0.8952	10	0.22706	T	0.39	-7.8477	15.533	0.75980	0.0:0.0:0.0:1.0	.	91	Q9UNH7	SNX6_HUMAN	V	103;66;121	ENSP00000355217:I103V;ENSP00000452577:I66V;ENSP00000452520:I121V	ENSP00000355217:I103V	I	-	1	0	SNX6	34144674	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.930000	0.87610	2.212000	0.71576	0.460000	0.39030	ATT	SNX6	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	ENSG00000129515		0.413	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	HGNC	protein_coding	OTTHUMT00000276642.3	-	0	83	0	T		Missense_Mutation	35074923	-1	tier1	-	no_errors	ENST00000362031	ensembl	human	known	74_37	missense	29.49	55	23	SNP	1.000	C	C	35074923	T	C	35074923	5	2	83	1	0	0	0	0	0	0	1	0	14951	1449	50	4	989	4	SNX6	14	35074923	Splice_Site	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	5837054	35074923	72274617	227	22110											
WDHD1	11169	genome.wustl.edu	37	chr14	55434081	55434081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcagggcgtggaagggttgGgggaaaccgagaacctttac	11	6	17	7	2	0	1	0	0	0	1	0	4	0	3	2	5	4	2	2	5	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:55434081G>A	ENST00000360586.3	-	17	2160	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	WDHD1_ENST00000420358.2_Missense_Mutation_p.P576S|WDHD1_ENST00000421192.1_Missense_Mutation_p.P576S|WDHD1_ENST00000359167.4_Missense_Mutation_p.P217S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	699					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						GGAAGGGTTGGGGGAAACCGA	0.373																																																	0													84	85	85					14																	55434081		2203	4300	6503	SO:0001583	missense	0			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"WD repeat domain containing"	23170	protein-coding gene	gene with protein product	"CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2095C>T	14.37:g.55434081G>A	ENSP00000353793:p.Pro699Ser		C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P699S	ENST00000360586.3	37	c.2095	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702452	0.68501	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.69435	-0.03;0.57;-0.4	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.70168	0.3193	L	0.50919	1.6	0.80722	D	1	D;B	0.53462	0.96;0.302	P;B	0.51415	0.669;0.173	T	0.71417	-0.4599	10	0.48119	T	0.1	.	15.409	0.74902	0.0:0.1392:0.8608:0.0	.	217;699	F8W7P7;O75717	.;WDHD1_HUMAN	S	699;217;576	ENSP00000353793:P699S;ENSP00000352085:P217S;ENSP00000391049:P576S	ENSP00000352085:P217S	P	-	1	0	WDHD1	54503831	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	7.318000	0.79029	2.483000	0.83821	0.650000	0.86243	CCA	WDHD1	-	NULL	ENSG00000198554		0.373	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	-	0	58	0	G	NM_007086		55434081	-1	tier1	-	no_errors	ENST00000360586	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	A	A	55434081	G	A	55434081	3	1	83	1	0	0	0	0	1	0	0	0	17320	1232	43	3	1334	3	WDHD1	14	55434081	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	20359158	55434081	51915459	228	22111											
SYNE2	23224	genome.wustl.edu	37	chr14	64430706	64430706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagaatgatacctacttTaaaaagtataatgtaagtat	18	13	6	4	0	1	2	1	1	0	1	1	3	1	2	1	0	2	3	1	0	10	8			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:64430706T>A	ENST00000344113.4	+	10	1190	c.978T>A	c.(976-978)ttT>ttA	p.F326L	SYNE2_ENST00000358025.3_Missense_Mutation_p.F326L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.F326L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	326					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATACCTACTTTAAAAAGTATA	0.323																																																	0													62	59	60					14																	64430706		1800	4063	5863	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.978T>A	14.37:g.64430706T>A	ENSP00000341781:p.Phe326Leu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.F326L	ENST00000344113.4	37	c.978	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	2.975	-0.211511	0.06140	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.55234	0.9;0.9;0.53	5.04	1.27	0.21489	.	0.965693	0.08497	N	0.937046	T	0.34135	0.0887	L	0.29908	0.895	0.09310	N	0.999997	B;B	0.21606	0.035;0.058	B;B	0.22601	0.018;0.04	T	0.25950	-1.0117	10	0.16420	T	0.52	.	2.6861	0.05108	0.192:0.2752:0.0:0.5327	.	326;326	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	326	ENSP00000350719:F326L;ENSP00000341781:F326L;ENSP00000452570:F326L	ENSP00000261678:F326L	F	+	3	2	SYNE2	63500459	0.051000	0.20477	0.016000	0.15963	0.011000	0.07611	0.344000	0.19962	0.235000	0.21160	-0.451000	0.05528	TTT	SYNE2	-	NULL	ENSG00000054654		0.323	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	68	0	T	NM_182914		64430706	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.025	A	A	64430706	T	A	64430706	3	1	83	1	0	0	0	0	1	0	0	0	15493	1751	61	5	1012	5	SYNE2	14	64430706	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	8996625	64430706	42918834	229	22112											
SYNE2	23224	genome.wustl.edu	37	chr14	64519522	64519522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggctgacagtatacagcGcaatgaactattacttaatc	14	10	9	8	1	0	2	0	2	0	0	1	3	0	3	0	2	4	3	0	2	7	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:64519522G>T	ENST00000344113.4	+	48	9103	c.8891G>T	c.(8890-8892)cGc>cTc	p.R2964L	SYNE2_ENST00000358025.3_Missense_Mutation_p.R2964L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.R2997L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2964					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R2964H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTATACAGCGCAATGAACTA	0.358																																																	1	Substitution - Missense(1)	lung(1)											47	45	45					14																	64519522		1872	4103	5975	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8891G>T	14.37:g.64519522G>T	ENSP00000341781:p.Arg2964Leu		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R2964L	ENST00000344113.4	37	c.8891	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	0.778	-0.763287	0.02996	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56444	0.83;0.83;0.46	5.24	1.55	0.23275	.	0.639490	0.14541	N	0.313288	T	0.22589	0.0545	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.17349	-1.0372	10	0.18710	T	0.47	.	3.8425	0.08920	0.5663:0.0:0.2791:0.1546	.	2964;2964	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	L	2964;2964;2997;2997	ENSP00000350719:R2964L;ENSP00000341781:R2964L;ENSP00000452570:R2997L	ENSP00000261678:R2997L	R	+	2	0	SYNE2	63589275	0.000000	0.05858	0.217000	0.23759	0.223000	0.24884	0.041000	0.13927	0.301000	0.22738	-0.752000	0.03492	CGC	SYNE2	-	NULL	ENSG00000054654		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0	24	0	G	NM_182914		64519522	1			no_errors	ENST00000358025	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.002	T	T	64519522	G	T	64519522	3	4	83	1	0	0	0	0	1	0	0	0	15493	1087	38	2	9077	2	SYNE2	14	64519522	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	88816	64519522	42830018	230	22113											
GALNTL1	57452	genome.wustl.edu	37	chr14	69818841	69818841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtgaccagcaagtgtcagGctgacgcccaggcccagcag	9	5	14	13	1	1	2	1	2	0	0	1	2	1	2	3	3	2	3	3	3	1	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:69818841G>C	ENST00000337827.4	+	15	1960	c.1633G>C	c.(1633-1635)Gct>Cct	p.A545P	GALNT16_ENST00000448469.3_Missense_Mutation_p.A545P	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	545	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CAAGTGTCAGGCTGACGCCCA	0.587																																																	0													43	41	42					14																	69818841		2203	4300	6503	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1633G>C	14.37:g.69818841G>C	ENSP00000336729:p.Ala545Pro		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A545P	ENST00000337827.4	37	c.1633	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	13.03	2.113961	0.37339	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469	T;T	0.26518	1.73;1.73	5.79	2.97	0.34412	Ricin B-related lectin (1);Ricin B lectin (3);	0.255518	0.46758	N	0.000275	T	0.14013	0.0339	N	0.12422	0.21	0.80722	D	1	B	0.34147	0.438	B	0.41619	0.361	T	0.16217	-1.0410	10	0.21540	T	0.41	.	3.3916	0.07291	0.1499:0.1345:0.5767:0.1389	.	545	Q8N428	GLTL1_HUMAN	P	545;171;545	ENSP00000336729:A545P;ENSP00000402970:A545P	ENSP00000336729:A545P	A	+	1	0	GALNTL1	68888594	0.996000	0.38824	0.989000	0.46669	0.985000	0.73830	1.249000	0.32839	0.369000	0.24510	-0.225000	0.12378	GCT	GALNT16	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000100626		0.587	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	HGNC	protein_coding	OTTHUMT00000412434.1	-	0	60	0	G	NM_001168368		69818841	1	tier1	-	no_errors	ENST00000337827	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.972	C	C	69818841	G	C	69818841	3	2	83	1	0	0	0	0	1	0	0	0	6246	1203	42	5	1691	5	GALNTL1	14	69818841	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	5299319	69818841	37530699	231	22114											
SMOC1	64093	genome.wustl.edu	37	chr14	70477509	70477509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggagaggcagagtgccCtggaagaggcccagcagaat	13	3	15	10	0	0	4	0	0	0	4	0	6	0	5	3	4	2	2	3	4	2	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:70477509C>T	ENST00000381280.4	+	8	956	c.703C>T	c.(703-705)Ctg>Ttg	p.L235L	SMOC1_ENST00000361956.3_Silent_p.L235L	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	235	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GCAGAGTGCCCTGGAAGAGGC	0.532																																																	0													111	118	116					14																	70477509		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.703C>T	14.37:g.70477509C>T			A8K1S3|B2R7P5|Q96F78	Silent	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.L235	ENST00000381280.4	37	c.703	CCDS9798.1	14																																																																																			SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.532	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1	-	0	56	0	C			70477509	1	tier1	-	no_errors	ENST00000361956	ensembl	human	known	74_37	silent	53.85	18	21	SNP	1.000	T	T	70477509	C	T	70477509	2	4	83	1	0	0	0	0	0	0	0	1	14846	680	24	3		3	SMOC1	14	70477509	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	658668	70477509	36872031	232	22115											
TTLL5	23093	genome.wustl.edu	37	chr14	76173979	76173979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttagatttcaagtttgaCgtgcgcctctatgtgctcgt	6	18	9	8	3	2	2	1	1	1	1	3	2	2	2	1	0	2	2	1	0	3	6	rs543743763		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:76173979C>T	ENST00000298832.9	+	9	874	c.669C>T	c.(667-669)gaC>gaT	p.D223D	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.D223D|TTLL5_ENST00000286650.5_Silent_p.D223D	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	223	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGTTTGACGTGCGCCTCT	0.368													C|||	1	0.000199681	8e-04	0	5008	,	,		14639	0		0	False		,,,				2504	0																0													81	79	79					14																	76173979		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.669C>T	14.37:g.76173979C>T			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	pfam_TTL/TTLL_fam	p.D223	ENST00000298832.9	37	c.669	CCDS32124.1	14																																																																																			TTLL5	-	pfam_TTL/TTLL_fam	ENSG00000119685		0.368	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	-	0	40	0	C	NM_015072		76173979	1	tier1	-	no_errors	ENST00000298832	ensembl	human	known	74_37	silent	58.82	7	10	SNP	0.907	T	T	76173979	C	T	76173979	2	4	83	1	0	0	0	0	0	0	0	1	16779	535	19	1		1	TTLL5	14	76173979	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	5696470	76173979	31175561	233	22116											
PPP2R5C	5527	genome.wustl.edu	37	chr14	102378766	102378766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaaatgaaagaacgggaaGaagcatgggttaaaatagaa	22	6	11	2	1	0	4	0	1	0	3	0	5	0	5	0	2	2	2	0	2	11	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr14:102378766G>A	ENST00000334743.5	+	12	1330	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E428K|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E428K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E483K|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E459K	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	428					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAACGGGAAGAAGCATGGGT	0.373																																																	0													82	84	83					14																	102378766		2203	4300	6503	SO:0001583	missense	0			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1282G>A	14.37:g.102378766G>A	ENSP00000333905:p.Glu428Lys		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E459K	ENST00000334743.5	37	c.1375	CCDS9964.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.598510|5.598510	0.96614|0.96614	.|.	.|.	ENSG00000078304|ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743|ENST00000557716	T;T;T;T;T|.	0.48201|.	0.84;0.82;0.84;0.86;0.84|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82549|0.82549	0.5061|0.5061	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.27594|.	0.151;0.073;0.182;0.002;0.02|.	B;B;B;B;B|.	0.30495|.	0.07;0.02;0.116;0.005;0.034|.	T|T	0.83247|0.83247	-0.0055|-0.0055	10|5	0.49607|.	T|.	0.09|.	-20.9826|-20.9826	19.5825|19.5825	0.95473|0.95473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	459;428;428;428;483|.	F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33|.	.;.;2A5G_HUMAN;.;.|.	K|K	459;483;457;428;428;428|147	ENSP00000412324:E459K;ENSP00000329009:E483K;ENSP00000450931:E457K;ENSP00000262239:E428K;ENSP00000333905:E428K|.	ENSP00000329009:E483K|.	E|R	+|+	1|2	0|0	PPP2R5C|PPP2R5C	101448519|101448519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.684000|9.684000	0.98659|0.98659	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAA|AGA	PPP2R5C	-	pfam_PP2A_B56,pirsf_PP2A_B56	ENSG00000078304		0.373	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	-	0	50	0	G	NM_002719		102378766	1	tier1	-	no_errors	ENST00000422945	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	A	A	102378766	G	A	102378766	3	1	83	1	0	0	0	0	1	0	0	0	12436	943	33	3	1697	3	PPP2R5C	14	102378766	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	26204787	102378766	4970774	234	22117											
AQR	9716	genome.wustl.edu	37	chr15	35212634	35212634	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtggagtgtgtttgAactgcagaatagagaacaat	13	10	12	6	0	0	3	0	1	0	2	0	5	0	4	1	2	3	2	1	2	5	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:35212634A>C	ENST00000156471.5	-	14	1345	c.1120T>G	c.(1120-1122)Tca>Gca	p.S374A		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	374					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGTGTGTTTGAACTGCAGAAT	0.313																																																	0													68	66	67					15																	35212634		1851	4086	5937	SO:0001630	splice_region_variant	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1119-1T>G	15.37:g.35212634A>C			A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.S374A	ENST00000156471.5	37	c.1120	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	A	5.247	0.231099	0.09969	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93366	-3.21	4.92	4.92	0.64577	.	0.188291	0.47852	D	0.000208	T	0.78953	0.4365	N	0.02539	-0.55	0.32341	N	0.559726	B	0.02656	0.0	B	0.01281	0.0	T	0.73802	-0.3868	10	0.09338	T	0.73	-12.7415	7.4654	0.27318	0.839:0.0:0.161:0.0	.	374	O60306	AQR_HUMAN	A	374	ENSP00000156471:S374A	ENSP00000156471:S374A	S	-	1	0	AQR	32999926	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.296000	0.65698	2.079000	0.62486	0.460000	0.39030	TCA	AQR	-	NULL	ENSG00000021776		0.313	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	-	0	47	0	A	NM_014691	Missense_Mutation	35212634	-1	tier1	-	no_errors	ENST00000156471	ensembl	human	known	74_37	missense	22.73	34	10	SNP	1.000	C	C	35212634	A	C	35212634	5	2	83	1	0	0	0	0	0	0	1	0	835	260	9	4	3425	4	AQR	15	35212634	Splice_Site	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09		35212634	67318758	235	22118											
PAK6	56924	genome.wustl.edu	37	chr15	40558404	40558404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgagtttcagggtgcctCgcagcgctgtctgcagctgg	4	9	15	13	4	2	0	1	0	1	0	3	1	2	0	2	2	4	5	2	2	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:40558404C>T	ENST00000542403.2	+	3	677	c.566C>T	c.(565-567)tCg>tTg	p.S189L	RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.S189L|PAK6_ENST00000560346.1_Missense_Mutation_p.S189L|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.S189L|PAK6_ENST00000260404.4_Missense_Mutation_p.S189L|PAK6_ENST00000455577.2_Missense_Mutation_p.S189L	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	189	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGGGTGCCTCGCAGCGCTGT	0.672																																																	0													16	19	18					15																	40558404		2199	4292	6491	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.566C>T	15.37:g.40558404C>T	ENSP00000439597:p.Ser189Leu		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.S189L	ENST00000542403.2	37	c.566	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	C	5.250	0.231590	0.09969	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73575	-0.75;-0.75;-0.76;-0.75;-0.75	5.26	4.32	0.51571	.	1.320840	0.04772	N	0.428264	T	0.60792	0.2296	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.10450	0.002;0.005	T	0.50841	-0.8780	10	0.54805	T	0.06	.	6.4223	0.21750	0.227:0.6758:0.0:0.0972	.	189;189	Q9NQU5;G5E9R2	PAK6_HUMAN;.	L	189	ENSP00000406873:S189L;ENSP00000401153:S189L;ENSP00000409465:S189L;ENSP00000260404:S189L;ENSP00000439597:S189L	ENSP00000260404:S189L	S	+	2	0	PAK6	38345696	0.002000	0.14202	0.065000	0.19835	0.009000	0.06853	1.597000	0.36729	1.174000	0.42811	0.561000	0.74099	TCG	PAK6	-	NULL	ENSG00000137843		0.672	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	-	0	68	0	C			40558404	1	tier1	-	no_errors	ENST00000260404	ensembl	human	known	74_37	missense	29.63	57	24	SNP	0.006	T	T	40558404	C	T	40558404	3	4	83	1	0	0	0	0	1	0	0	0	11443	893	31	1	572	1	PAK6	15	40558404	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	5345770	40558404	61972988	236	22119											
VPS18	57617	genome.wustl.edu	37	chr15	41195198	41195198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctgcgacttccccctgCtcaaccgccctttttacctc	5	11	4	21	2	1	0	1	0	0	0	3	1	2	0	7	0	4	1	7	0	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:41195198C>A	ENST00000220509.5	+	5	2920	c.2581C>A	c.(2581-2583)Ctc>Atc	p.L861I		NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	861					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTTCCCCCTGCTCAACCGCCC	0.647																																																	0													127	117	120					15																	41195198		2203	4300	6503	SO:0001583	missense	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2581C>A	15.37:g.41195198C>A	ENSP00000220509:p.Leu861Ile		Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.L861I	ENST00000220509.5	37	c.2581	CCDS10069.1	15	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608851	0.87258	.	.	ENSG00000104142	ENST00000220509	T	0.67523	-0.27	5.23	4.32	0.51571	.	0.058227	0.64402	D	0.000001	T	0.78304	0.4262	M	0.73430	2.235	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	T	0.79701	-0.1693	10	0.46703	T	0.11	-33.7057	13.8376	0.63419	0.0:0.9269:0.0:0.0731	.	861	Q9P253	VPS18_HUMAN	I	861	ENSP00000220509:L861I	ENSP00000220509:L861I	L	+	1	0	VPS18	38982490	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.930000	0.70104	1.448000	0.47680	0.561000	0.74099	CTC	VPS18	-	NULL	ENSG00000104142		0.647	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	-	0	81	0	C			41195198	1	tier1	-	no_errors	ENST00000220509	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	A	A	41195198	C	A	41195198	3	1	83	1	0	0	0	0	1	0	0	0	17243	797	28	3	2599	3	VPS18	15	41195198	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	636794	41195198	61336194	237	22120											
CATSPER2	117155	genome.wustl.edu	37	chr15	43939656	43939656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatacaagtttcttctggCgggaaggatctacaacaaaa	15	9	8	9	1	3	0	0	0	3	0	3	2	3	2	1	3	3	1	1	3	8	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:43939656C>A	ENST00000321596.5	-	3	354	c.155G>T	c.(154-156)cGc>cTc	p.R52L	CATSPER2_ENST00000354127.4_Missense_Mutation_p.R52L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.R52L|CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000381761.1_Missense_Mutation_p.R58L|CATSPER2_ENST00000396879.1_Missense_Mutation_p.R52L|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	52					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TTTCTTCTGGCGGGAAGGATC	0.443																																																	0													71	83	79					15																	43939656		2199	4296	6495	SO:0001583	missense	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.155G>T	15.37:g.43939656C>A	ENSP00000321463:p.Arg52Leu		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R52L	ENST00000321596.5	37	c.155	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	C	2.189	-0.385639	0.04966	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	3.38	-1.0	0.10196	.	1.121610	0.07236	U	0.863389	T	0.25005	0.0607	L	0.28274	0.84	0.09310	N	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.10450	0.005;0.003;0.001	T	0.26643	-1.0097	10	0.11182	T	0.66	.	6.3317	0.21274	0.0:0.4914:0.0:0.5086	.	52;58;52	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	L	52;52;58;52;52;52;52;52	ENSP00000380088:R52L;ENSP00000371180:R58L;ENSP00000321463:R52L;ENSP00000339137:R52L;ENSP00000347613:R52L;ENSP00000407694:R52L;ENSP00000386595:R52L	ENSP00000299989:R52L	R	-	2	0	CATSPER2	41726948	0.000000	0.05858	0.008000	0.14137	0.278000	0.26855	-1.913000	0.01580	-0.058000	0.13177	0.184000	0.17185	CGC	CATSPER2	-	NULL	ENSG00000166762		0.443	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0	38	0	C	NM_054020		43939656	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	A	A	43939656	C	A	43939656	3	1	83	1	0	0	0	0	1	0	0	0	2695	768	27	2	1520	2	CATSPER2	15	43939656	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	2744458	43939656	58591736	238	22121											
DUOX2	50506	genome.wustl.edu	37	chr15	45392330	45392330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccggtagttctccacGaagcgcttgtactgctgcag	6	11	11	13	3	1	0	0	0	1	0	3	1	2	0	3	1	5	6	3	1	3	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:45392330G>T	ENST00000603300.1	-	24	3304	c.3102C>A	c.(3100-3102)ttC>ttA	p.F1034L	DUOX2_ENST00000389039.6_Missense_Mutation_p.F1034L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1034	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTTCTCCACGAAGCGCTTGT	0.562																																																	0													125	104	111					15																	45392330		2198	4298	6496	SO:0001583	missense	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"EF-hand domain containing"	13273	protein-coding gene	gene with protein product	"dual oxidase-like domains 2", "nicotinamide adenine dinucleotide phosphate oxidase", "flavoprotein NADPH oxidase", "NADPH thyroid oxidase 2", "NADH/NADPH thyroid oxidase p138-tox", "NADPH oxidase/peroxidase DUOX2"	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3102C>A	15.37:g.45392330G>T	ENSP00000475084:p.Phe1034Leu		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.F1034L	ENST00000603300.1	37	c.3102	CCDS10117.1	15	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297503	0.60086	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.45	-4.27	0.03744	.	0.045751	0.85682	D	0.000000	T	0.54367	0.1854	M	0.65975	2.015	0.58432	D	0.999992	B	0.14805	0.011	B	0.18263	0.021	T	0.40232	-0.9574	9	0.41790	T	0.15	-17.8724	13.1459	0.59461	0.5405:0.0:0.4595:0.0	.	1034	Q9NRD8	DUOX2_HUMAN	L	1034	.	ENSP00000373691:F1034L	F	-	3	2	DUOX2	43179622	0.936000	0.31750	0.956000	0.39512	0.990000	0.78478	0.160000	0.16462	-0.690000	0.05142	-0.251000	0.11542	TTC	DUOX2	-	NULL	ENSG00000140279		0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding			0	28	0	G	NM_014080		45392330	-1			no_errors	ENST00000389039	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.996	T	T	45392330	G	T	45392330	3	4	83	1	0	0	0	0	1	0	0	0	4815	1049	37	2	1588	2	DUOX2	15	45392330	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1452674	45392330	57139062	239	22122											
TMEM202	338949	genome.wustl.edu	37	chr15	72691089	72691089	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatctacatccgaacgctCtgtggcagcctctgtagttt	8	12	8	13	2	3	0	0	0	3	0	4	1	4	0	2	1	3	4	2	1	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:72691089C>G	ENST00000341689.3	+	2	231	c.177C>G	c.(175-177)ctC>ctG	p.L59L	TMEM202_ENST00000567679.1_Intron	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	59						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCCGAACGCTCTGTGGCAGCC	0.522																																																	0													155	110	125					15																	72691089		2199	4297	6496	SO:0001819	synonymous_variant	0				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.177C>G	15.37:g.72691089C>G				Silent	SNP	NULL	p.L59	ENST00000341689.3	37	c.177	CCDS32287.1	15																																																																																			TMEM202	-	NULL	ENSG00000187806		0.522	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM202	HGNC	protein_coding	OTTHUMT00000435756.1	-	0	34	0	C	NM_001080462		72691089	1	tier1	-	no_errors	ENST00000341689	ensembl	human	known	74_37	silent	70.00	9	21	SNP	1.000	G	G	72691089	C	G	72691089	2	3	83	1	0	0	0	0	0	0	0	1	16174	900	32	5		5	TMEM202	15	72691089	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	27298759	72691089	29840303	240	22123											
ARID3B	10620	genome.wustl.edu	37	chr15	74882286	74882286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatctggagggagatcAccaaaggcctaaacctgccc	14	5	11	11	0	2	3	1	0	1	3	2	5	2	4	4	3	2	0	4	3	4	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:74882286A>G	ENST00000346246.5	+	5	1054	c.823A>G	c.(823-825)Acc>Gcc	p.T275A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	275	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.|Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GAGGGAGATCACCAAAGGCCT	0.572																																																	0													74	62	66					15																	74882286		2197	4296	6493	SO:0001583	missense	0				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.823A>G	15.37:g.74882286A>G	ENSP00000343126:p.Thr275Ala		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T275A	ENST00000346246.5	37	c.823	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203559	0.58234	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.58797	0.31	5.35	5.35	0.76521	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	N	0.16201	0.385	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.995;0.996	T	0.52510	-0.8566	10	0.07990	T	0.79	-32.2672	15.3709	0.74564	1.0:0.0:0.0:0.0	.	275;275	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	A	275	ENSP00000343126:T275A	ENSP00000343126:T275A	T	+	1	0	ARID3B	72669339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.850000	0.92190	2.026000	0.59711	0.482000	0.46254	ACC	ARID3B	-	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	ENSG00000179361		0.572	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	-	0	64	0	A	NM_006465		74882286	1	tier1	-	no_errors	ENST00000346246	ensembl	human	known	74_37	missense	46.15	28	24	SNP	1.000	G	G	74882286	A	G	74882286	3	3	83	1	0	0	0	0	1	0	0	0	917	159	6	4	837	4	ARID3B	15	74882286	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	2191197	74882286	27649106	241	22124											
CSPG4	1464	genome.wustl.edu	37	chr15	75968270	75968270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgccatggggcctggcTcgcctgtgggggtgctgctc	2	10	18	11	1	0	0	0	0	0	0	2	1	0	1	3	6	3	3	3	6	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:75968270T>C	ENST00000308508.5	-	10	6682	c.6590A>G	c.(6589-6591)gAg>gGg	p.E2197G	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2197	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGCCTGGCTCGCCTGTGGG	0.662																																																	0													35	39	37					15																	75968270		2197	4294	6491	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6590A>G	15.37:g.75968270T>C	ENSP00000312506:p.Glu2197Gly		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E2197G	ENST00000308508.5	37	c.6590	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	T	8.682	0.905306	0.17760	.	.	ENSG00000173546	ENST00000308508;ENST00000537176	T	0.19938	2.11	5.33	0.337	0.15966	.	1.342060	0.04703	N	0.416174	T	0.12944	0.0314	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32214	-0.9915	10	0.23302	T	0.38	.	8.4772	0.33021	0.0:0.4175:0.0:0.5825	.	2197	Q6UVK1	CSPG4_HUMAN	G	2197;229	ENSP00000312506:E2197G	ENSP00000312506:E2197G	E	-	2	0	CSPG4	73755325	0.007000	0.16637	0.069000	0.20011	0.748000	0.42578	0.360000	0.20250	0.055000	0.16094	0.459000	0.35465	GAG	CSPG4	-	NULL	ENSG00000173546		0.662	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	43	0	T	NM_001897		75968270	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.044	C	C	75968270	T	C	75968270	3	2	83	1	0	0	0	0	1	0	0	0	3969	1551	54	4	382	4	CSPG4	15	75968270	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	1085984	75968270	26563122	242	22125											
FES	2242	genome.wustl.edu	37	chr15	91432539	91432539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtctcgggggcaggaaGgagatcctgcaggaatacct	9	7	14	11	2	1	1	0	0	1	1	4	4	3	3	3	5	2	2	3	5	3	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:91432539G>C	ENST00000328850.3	+	6	814	c.672G>C	c.(670-672)aaG>aaC	p.K224N	FES_ENST00000444422.2_Missense_Mutation_p.K224N|FES_ENST00000414248.2_Missense_Mutation_p.K166N|FES_ENST00000394302.1_Missense_Mutation_p.K166N|FES_ENST00000394300.3_Missense_Mutation_p.K166N|FES_ENST00000450438.2_Missense_Mutation_p.K166N	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	224	Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGGCAGGAAGGAGATCCTGC	0.647																																																	0													58	56	57					15																	91432539		2198	4298	6496	SO:0001583	missense	0			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.672G>C	15.37:g.91432539G>C	ENSP00000331504:p.Lys224Asn		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.K224N	ENST00000328850.3	37	c.672	CCDS10365.1	15	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769097	0.69992	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	4.71	1.24	0.21308	.	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	M	0.73962	2.25	0.42879	D	0.994165	D;D;D;D;D	0.67145	0.988;0.979;0.99;0.996;0.97	P;P;P;D;P	0.64042	0.844;0.702;0.841;0.921;0.697	T	0.14254	-1.0479	10	0.87932	D	0	-43.8244	9.568	0.39411	0.2713:0.0:0.7287:0.0	.	166;166;166;224;224	P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;FES_HUMAN	N	224;166;166;224;166;166	ENSP00000331504:K224N;ENSP00000414629:K166N;ENSP00000377839:K166N;ENSP00000400868:K224N;ENSP00000377837:K166N;ENSP00000409915:K166N	ENSP00000331504:K224N	K	+	3	2	FES	89233543	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.572000	0.45999	0.423000	0.26033	0.456000	0.33151	AAG	FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr	ENSG00000182511		0.647	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1		0	52	0	G	NM_002005		91432539	1			no_errors	ENST00000328850	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	C	C	91432539	G	C	91432539	3	2	83	1	0	0	0	0	1	0	0	0	5842	991	35	5	690	5	FES	15	91432539	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	15464269	91432539	11098853	243	22126											
MCTP2	55784	genome.wustl.edu	37	chr15	94841617	94841617	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccccagatctacgggcaagGcatcacttggaccgccgtct	8	7	10	16	3	3	1	1	0	2	1	3	2	3	2	4	3	1	2	4	3	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr15:94841617G>T	ENST00000357742.4	+	1	123	c.123G>T	c.(121-123)agG>agT	p.R41S	MCTP2_ENST00000451018.3_Missense_Mutation_p.R41S|MCTP2_ENST00000543482.1_Missense_Mutation_p.R41S|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	41					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TACGGGCAAGGCATCACTTGG	0.567																																																	0													71	73	72					15																	94841617		2197	4298	6495	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.123G>T	15.37:g.94841617G>T	ENSP00000350377:p.Arg41Ser		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R41S	ENST00000357742.4	37	c.123	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	6.012	0.370584	0.11352	.	.	ENSG00000140563	ENST00000543482;ENST00000556363;ENST00000451018;ENST00000357742	T;T;T	0.70399	-0.48;-0.24;-0.08	5.17	1.63	0.23807	.	1.464360	0.04135	N	0.318535	T	0.57844	0.2081	N	0.12182	0.205	0.09310	N	0.999997	B;B;B;B;B	0.09022	0.001;0.0;0.0;0.001;0.002	B;B;B;B;B	0.08055	0.001;0.002;0.001;0.001;0.003	T	0.45673	-0.9245	10	0.33141	T	0.24	.	14.7391	0.69440	0.0:0.0:0.6047:0.3952	.	41;41;41;41;41	F5H415;Q6DN12-2;Q6DN12;B7Z6H2;G3V2J2	.;.;MCTP2_HUMAN;.;.	S	41	ENSP00000438521:R41S;ENSP00000395109:R41S;ENSP00000350377:R41S	ENSP00000350377:R41S	R	+	3	2	MCTP2	92642621	0.017000	0.18338	0.001000	0.08648	0.154000	0.21943	1.011000	0.29911	0.493000	0.27837	0.655000	0.94253	AGG	MCTP2	-	NULL	ENSG00000140563		0.567	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	-	0	51	0	G	NM_018349		94841617	1	tier1	-	no_errors	ENST00000357742	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.000	T	T	94841617	G	T	94841617	3	4	83	1	0	0	0	0	1	0	0	0	9439	1194	42	3	125	3	MCTP2	15	94841617	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3409078	94841617	7689775	244	22127											
NOXO1	124056	genome.wustl.edu	37	chr16	2029801	2029801	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcgcataccgctgctcccTagggacgggcctccctcccg	5	6	12	18	4	0	0	0	0	0	0	3	1	3	1	5	3	2	3	5	3	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:2029801T>C	ENST00000397280.4	-	6	708	c.705A>G	c.(703-705)ctA>ctG	p.L235L	NOXO1_ENST00000354249.4_Silent_p.L229L|NOXO1_ENST00000356120.4_Silent_p.L230L|AC005606.1_ENST00000598236.1_5'Flank|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Silent_p.L234L			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	235					extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	CGCTGCTCCCTAGGGACGGGC	0.716																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0																																										SO:0001819	synonymous_variant	0			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.705A>G	16.37:g.2029801T>C			Q86YM1|Q8NFA3|Q96B73	Silent	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.L235	ENST00000397280.4	37	c.705	CCDS42101.1	16																																																																																			NOXO1	-	NULL	ENSG00000196408		0.716	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	-	0	62	0	T			2029801	-1	tier1	-	no_errors	ENST00000397280	ensembl	human	known	74_37	silent	35.00	26	14	SNP	0.000	C	C	2029801	T	C	2029801	2	2	83	1	0	0	0	0	0	0	0	1	10600	1509	53	4		4	NOXO1	16	2029801	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09		2029801	88324952	245	22128											
PKD1	5310	genome.wustl.edu	37	chr16	2164867	2164867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgccagggccagcgtcGtgctgcaagccaacgaggtc	8	4	16	13	4	0	0	0	0	0	0	2	1	0	0	3	3	5	2	3	3	2	0	rs545699501		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:2164867G>A	ENST00000262304.4	-	11	2365	c.2157C>T	c.(2155-2157)caC>caT	p.H719H	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.H719H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	719					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCCAGCGTCGTGCTGCAAGC	0.706													a|||	1	0.000199681	0	0	5008	,	,		17371	0.001		0	False		,,,				2504	0																0													1	1	1					16																	2164867		515	850	1365	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2157C>T	16.37:g.2164867G>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.H719	ENST00000262304.4	37	c.2157	CCDS32369.1	16																																																																																			PKD1	-	tigrfam_Polycystin_cat	ENSG00000008710		0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	123	0	G			2164867	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	silent	26.19	93	33	SNP	0.956	A	A	2164867	G	A	2164867	2	1	83	1	0	0	0	0	0	0	0	1	12002	1136	40	1		1	PKD1	16	2164867	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	135066	2164867	88189886	246	22129											
ABCA3	21	genome.wustl.edu	37	chr16	2345651	2345651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcgctgctctccagcGtggcgttgggcacgtggtgg	3	8	16	14	4	1	0	0	0	1	0	2	0	1	0	3	4	3	4	3	4	0	1	rs371756212		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:2345651G>A	ENST00000301732.5	-	18	3054	c.2354C>T	c.(2353-2355)aCg>aTg	p.T785M	ABCA3_ENST00000382381.3_Missense_Mutation_p.T727M	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	785					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCTCTCCAGCGTGGCGTTGGG	0.617																																																	0								G	MET/THR	0,4396		0,0,2198	125	125	125		2354	3.6	0.9	16		125	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCA3	NM_001089.2	81	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	benign	785/1705	2345651	2,12994	2198	4300	6498	SO:0001583	missense	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2354C>T	16.37:g.2345651G>A	ENSP00000301732:p.Thr785Met		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T785M	ENST00000301732.5	37	c.2354	CCDS10466.1	16	.	.	.	.	.	.	.	.	.	.	G	9.414	1.081210	0.20309	0.0	2.33E-4	ENSG00000167972	ENST00000301732;ENST00000382381	T	0.63255	-0.03	5.65	3.57	0.40892	.	0.408877	0.27927	N	0.017286	T	0.58278	0.2111	M	0.78223	2.4	0.58432	D	0.999999	B;B;B	0.31026	0.029;0.304;0.064	B;B;B	0.24701	0.018;0.055;0.042	T	0.58250	-0.7669	10	0.28530	T	0.3	.	10.9018	0.47056	0.1783:0.0:0.8217:0.0	.	785;789;785	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	M	785;789	ENSP00000301732:T785M	ENSP00000301732:T785M	T	-	2	0	ABCA3	2285652	0.987000	0.35691	0.855000	0.33649	0.062000	0.15995	2.105000	0.41825	1.598000	0.50083	0.655000	0.94253	ACG	ABCA3	-	NULL	ENSG00000167972		0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	-	0	73	0	G	NM_001089		2345651	-1	tier1	-	no_errors	ENST00000301732	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.756	A	A	2345651	G	A	2345651	3	1	83	1	0	0	0	0	1	0	0	0	33	1145	40	1	2824	1	ABCA3	16	2345651	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	180784	2345651	88009102	247	22130											
VASN	114990	genome.wustl.edu	37	chr16	4432883	4432883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccagtcacccctccacGcaaagccctacatctaagcc	10	6	5	20	1	2	0	1	0	1	0	4	0	4	0	7	0	3	1	7	0	3	2	rs370311116		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:4432883G>A	ENST00000304735.3	+	2	2160	c.2005G>A	c.(2005-2007)Gca>Aca	p.A669T	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	669					cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						ACCCCTCCACGCAAAGCCCTA	0.652																																																	0								G	,,,,THR/ALA	1,4363		0,1,2181	13	15	14		,,,,2005	-9.8	0	16		14	0,8584		0,0,4292	no	intron,intron,intron,intron,missense	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,58	0,1,6473	AA,AG,GG		0.0,0.0229,0.0077	,,,,benign	,,,,669/674	4432883	1,12947	2182	4292	6474	SO:0001583	missense	0			AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"slit-like 2 (Drosophila)"	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.2005G>A	16.37:g.4432883G>A	ENSP00000306864:p.Ala669Thr		Q6UXL4|Q6UXL5|Q96CX1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.A669T	ENST00000304735.3	37	c.2005	CCDS10514.1	16	.	.	.	.	.	.	.	.	.	.	G	2.869	-0.234440	0.05983	2.29E-4	0.0	ENSG00000168140	ENST00000304735	T	0.55588	0.51	4.92	-9.84	0.00479	.	1.371070	0.04738	N	0.422379	T	0.26159	0.0638	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10086	-1.0645	10	0.18276	T	0.48	0.1682	1.3827	0.02233	0.2782:0.0855:0.2614:0.3749	.	669	Q6EMK4	VASN_HUMAN	T	669	ENSP00000306864:A669T	ENSP00000306864:A669T	A	+	1	0	VASN	4372884	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.822000	0.01711	-1.827000	0.01204	-0.314000	0.08810	GCA	VASN	-	NULL	ENSG00000168140		0.652	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASN	HGNC	protein_coding	OTTHUMT00000251632.1	-	0	76	0	G	NM_138440		4432883	1	tier1	-	no_errors	ENST00000304735	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	A	A	4432883	G	A	4432883	3	1	83	1	0	0	0	0	1	0	0	0	17176	1087	38	1	2007	1	VASN	16	4432883	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2087232	4432883	85921870	248	22131											
USP31	57478	genome.wustl.edu	37	chr16	23080011	23080011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaggtgggaaagggctccTtgtggcagggcccgaggcct	6	6	17	12	1	0	0	0	0	0	0	1	2	1	1	4	6	0	2	4	6	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:23080011T>A	ENST00000219689.7	-	16	3414	c.3415A>T	c.(3415-3417)Agg>Tgg	p.R1139W	USP31_ENST00000567975.1_Missense_Mutation_p.R432W	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AAAGGGCTCCTTGTGGCAGGG	0.592																																																	0													63	68	66					16																	23080011		2197	4300	6497	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3415A>T	16.37:g.23080011T>A	ENSP00000219689:p.Arg1139Trp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R1139W	ENST00000219689.7	37	c.3415	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463797	0.63513	.	.	ENSG00000103404	ENST00000219689	T	0.10960	2.82	5.8	3.44	0.39384	.	2.079960	0.02497	N	0.090052	T	0.26666	0.0652	L	0.29908	0.895	0.40212	D	0.977632	D;D	0.89917	0.997;1.0	P;D	0.79784	0.907;0.993	T	0.00228	-1.1899	10	0.87932	D	0	-23.2872	11.9353	0.52870	0.0:0.0:0.2759:0.7241	.	1139;432	Q70CQ4;B3KS48	UBP31_HUMAN;.	W	1139	ENSP00000219689:R1139W	ENSP00000219689:R1139W	R	-	1	2	USP31	22987512	0.457000	0.25752	0.488000	0.27440	0.769000	0.43574	0.567000	0.23608	0.401000	0.25424	0.533000	0.62120	AGG	USP31	-	NULL	ENSG00000103404		0.592	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1		0	57	0	T	NM_020718		23080011	-1			no_errors	ENST00000219689	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.970	A	A	23080011	T	A	23080011	3	1	83	1	0	0	0	0	1	0	0	0	17111	1608	56	5	647	5	USP31	16	23080011	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	18647128	23080011	67274742	249	22132											
C16orf54	283897	genome.wustl.edu	37	chr16	29755699	29755699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaggatccgggctccctgGccgctgcctcctggcctggg	2	8	14	17	2	1	0	1	0	0	0	4	1	4	1	6	5	1	2	6	5	0	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:29755699G>C	ENST00000329410.3	-	2	669	c.574C>G	c.(574-576)Cca>Gca	p.P192A	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	192						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GGGCTCCCTGGCCGCTGCCTC	0.692																																																	0													9	10	10					16																	29755699		2131	4235	6366	SO:0001583	missense	0			AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.574C>G	16.37:g.29755699G>C	ENSP00000327506:p.Pro192Ala		A6NJR6|Q8NAB0	Missense_Mutation	SNP	NULL	p.P192A	ENST00000329410.3	37	c.574	CCDS10652.1	16	.	.	.	.	.	.	.	.	.	.	G	8.335	0.827331	0.16749	.	.	ENSG00000185905	ENST00000329410	.	.	.	5.22	5.22	0.72569	.	0.366130	0.19638	U	0.109507	T	0.41880	0.1178	L	0.29908	0.895	0.09310	N	1	P	0.49961	0.93	P	0.50162	0.633	T	0.30563	-0.9974	9	0.45353	T	0.12	-0.6268	14.2742	0.66170	0.0:0.0:1.0:0.0	.	192	Q6UWD8	CP054_HUMAN	A	192	.	ENSP00000327506:P192A	P	-	1	0	C16orf54	29663200	0.478000	0.25917	0.021000	0.16686	0.089000	0.18198	3.000000	0.49481	2.435000	0.82474	0.313000	0.20887	CCA	C16orf54	-	NULL	ENSG00000185905		0.692	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf54	HGNC	protein_coding	OTTHUMT00000255158.1	-	0	39	0	G	NM_175900		29755699	-1	tier1	-	no_errors	ENST00000329410	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.150	C	C	29755699	G	C	29755699	3	2	83	1	0	0	0	0	1	0	0	0	1824	1203	42	5	104	5	C16orf54	16	29755699	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	6675688	29755699	60599054	250	22133											
PRSS8	5652	genome.wustl.edu	37	chr16	31143758	31143758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgcttacctggcaggCgtccttgcccccctccacat	4	10	9	18	1	0	0	0	0	0	0	2	0	2	0	7	2	3	2	7	2	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:31143758C>T	ENST00000317508.6	-	5	960	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	PRSS8_ENST00000568261.1_Missense_Mutation_p.A179T|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	233	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						ACCTGGCAGGCGTCCTTGCCC	0.612																																																	0													89	95	93					16																	31143758		2101	4219	6320	SO:0001583	missense	0			U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"Serine peptidases / Serine peptidases"	9491	protein-coding gene	gene with protein product	"prostasin"	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.697G>A	16.37:g.31143758C>T	ENSP00000319730:p.Ala233Thr		B4DWP2|Q9UCA3	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A233T	ENST00000317508.6	37	c.697	CCDS45469.1	16	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816958	0.90790	.	.	ENSG00000052344	ENST00000317508	D	0.92965	-3.14	5.44	4.48	0.54585	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000021	D	0.91529	0.7325	N	0.16016	0.355	0.49915	D	0.999835	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91301	0.5067	10	0.37606	T	0.19	.	14.4427	0.67327	0.1488:0.8512:0.0:0.0	.	179;233	B4DWP2;Q16651	.;PRSS8_HUMAN	T	233	ENSP00000319730:A233T	ENSP00000319730:A233T	A	-	1	0	PRSS8	31051259	0.978000	0.34361	0.998000	0.56505	0.959000	0.62525	1.541000	0.36126	1.270000	0.44297	0.561000	0.74099	GCC	PRSS8	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000052344		0.612	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS8	HGNC	protein_coding	OTTHUMT00000433536.1	-	0	49	0	C	NM_002773		31143758	-1	tier1	-	no_errors	ENST00000317508	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	31143758	C	T	31143758	3	4	83	1	0	0	0	0	1	0	0	0	12677	768	27	1	342	1	PRSS8	16	31143758	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	1388059	31143758	59210995	251	22134											
BRD7	29117	genome.wustl.edu	37	chr16	50353169	50353169	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccgtctttttaggttCttcagtgtctgaaagaaaaa	13	14	7	7	1	4	2	1	1	3	1	5	2	5	2	1	1	1	1	1	1	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:50353169C>A	ENST00000394688.3	-	17	2068	c.1909G>T	c.(1909-1911)Gaa>Taa	p.E637*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.E638*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	637					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTTTTAGGTTCTTCAGTGTCT	0.353																																																	0													64	62	62					16																	50353169		2198	4300	6498	SO:0001587	stop_gained	0			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"bromodomain-containing 7"			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1909G>T	16.37:g.50353169C>A	ENSP00000378180:p.Glu637*		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Nonsense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E638*	ENST00000394688.3	37	c.1912	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649853	0.67358	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	.	.	.	5.92	5.92	0.95590	.	0.161287	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-12.5816	17.0496	0.86515	0.0:1.0:0.0:0.0	.	.	.	.	X	637;638	.	ENSP00000378180:E637X	E	-	1	0	BRD7	48910670	1.000000	0.71417	0.994000	0.49952	0.655000	0.38815	4.124000	0.57924	2.809000	0.96659	0.557000	0.71058	GAA	BRD7	-	NULL	ENSG00000166164		0.353	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3		0	45	0	C	NM_013263		50353169	-1			no_errors	ENST00000394689	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	A	A	50353169	C	A	50353169	4	1	83	1	0	0	0	0	0	1	0	0	1509	922	32	3	50	3	BRD7	16	50353169	Nonsense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	19209411	50353169	40001584	252	22135											
CHD9	80205	genome.wustl.edu	37	chr16	53358631	53358631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttaggctcgtctaagtctGtagaagtaaaagaagaagat	16	10	10	5	1	2	4	0	0	2	4	3	4	2	4	0	1	0	3	0	1	8	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:53358631G>T	ENST00000398510.3	+	38	8605	c.8518G>T	c.(8518-8520)Gta>Tta	p.V2840L	CHD9_ENST00000447540.1_Missense_Mutation_p.V2825L|CHD9_ENST00000566029.1_Missense_Mutation_p.V2824L|CHD9_ENST00000564845.1_Missense_Mutation_p.V2824L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2840					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTCTAAGTCTGTAGAAGTAAA	0.398																																																	0													54	49	50					16																	53358631		1839	4077	5916	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8518G>T	16.37:g.53358631G>T	ENSP00000381522:p.Val2840Leu		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V2840L	ENST00000398510.3	37	c.8518		16	.	.	.	.	.	.	.	.	.	.	G	6.053	0.378157	0.11466	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85556	-2.0	5.25	3.28	0.37604	.	0.595355	0.14656	N	0.306288	T	0.72534	0.3472	N	0.24115	0.695	0.19300	N	0.999975	B;B;B;B	0.22683	0.003;0.015;0.073;0.015	B;B;B;B	0.23275	0.003;0.015;0.045;0.015	T	0.58086	-0.7698	10	0.28530	T	0.3	-3.3473	5.8988	0.18955	0.2315:0.145:0.6235:0.0	.	906;2825;2840;2824	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	L	2825;2824;906	ENSP00000396345:V2825L	ENSP00000381522:V2824L	V	+	1	0	CHD9	51916132	0.371000	0.25056	0.934000	0.37439	0.981000	0.71138	2.318000	0.43779	0.705000	0.31890	0.655000	0.94253	GTA	CHD9	-	NULL	ENSG00000177200		0.398	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0	44	0	G	NM_025134		53358631	1			no_errors	ENST00000398510	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.392	T	T	53358631	G	T	53358631	3	4	83	1	0	0	0	0	1	0	0	0	3339	1377	48	3	8620	3	CHD9	16	53358631	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3005462	53358631	36996122	253	22136											
GPR56	9289	genome.wustl.edu	37	chr16	57690476	57690476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtgagaccgtcaggagaGaaacccaaacatcctgcttc	12	7	11	11	1	1	2	1	1	0	2	3	5	2	3	3	2	3	1	3	2	2	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:57690476G>C	ENST00000388812.4	+	9	1554	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q	GPR56_ENST00000562631.1_Missense_Mutation_p.E372Q|GPR56_ENST00000379694.4_Missense_Mutation_p.E202Q|GPR56_ENST00000456916.1_Missense_Mutation_p.E372Q|GPR56_ENST00000568908.1_Missense_Mutation_p.E372Q|GPR56_ENST00000538815.1_Missense_Mutation_p.E372Q|GPR56_ENST00000567835.1_Missense_Mutation_p.E372Q|GPR56_ENST00000562558.1_Missense_Mutation_p.E372Q|GPR56_ENST00000568909.1_Missense_Mutation_p.E372Q|GPR56_ENST00000540164.2_Missense_Mutation_p.E372Q|GPR56_ENST00000544297.1_Missense_Mutation_p.E197Q|GPR56_ENST00000379696.3_Missense_Mutation_p.E372Q|GPR56_ENST00000388813.5_Missense_Mutation_p.E372Q			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	372	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CGTCAGGAGAGAAACCCAAAC	0.617																																																	0													180	148	159					16																	57690476		2198	4300	6498	SO:0001583	missense	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"-", "GPCR / Class B : Orphans"	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1114G>C	16.37:g.57690476G>C	ENSP00000373464:p.Glu372Gln		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E372Q	ENST00000388812.4	37	c.1114	CCDS32460.1	16	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970517	0.34754	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.57	4.61	0.57282	GPS domain (3);	0.569102	0.17844	N	0.160107	T	0.65923	0.2738	L	0.27975	0.815	0.09310	N	1	P;D;B;D;P	0.62365	0.937;0.991;0.356;0.991;0.939	P;P;B;P;P	0.56960	0.572;0.81;0.098;0.81;0.625	T	0.57871	-0.7736	10	0.17832	T	0.49	.	15.1737	0.72894	0.0:0.1419:0.8581:0.0	.	197;377;372;372;202	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	Q	372;372;372;372;372;197;202;372	ENSP00000373465:E372Q;ENSP00000373464:E372Q;ENSP00000444415:E372Q;ENSP00000398034:E372Q;ENSP00000444911:E372Q;ENSP00000438006:E197Q;ENSP00000369016:E202Q;ENSP00000369018:E372Q	ENSP00000369016:E202Q	E	+	1	0	GPR56	56247977	0.194000	0.23325	0.053000	0.19242	0.212000	0.24457	1.418000	0.34782	1.337000	0.45525	-0.300000	0.09419	GAA	GPR56	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000205336		0.617	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	-	0	36	0	G			57690476	1	tier1	-	no_errors	ENST00000379696	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.097	C	C	57690476	G	C	57690476	3	2	83	1	0	0	0	0	1	0	0	0	6726	943	33	5	1159	5	GPR56	16	57690476	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	4331845	57690476	32664277	254	22137											
CNOT1	23019	genome.wustl.edu	37	chr16	58577327	58577327	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atataacagaaaaaaaaaaaAacacacagacatgatgcttt	24	7	4	6	0	0	3	0	1	0	2	0	3	0	3	0	0	3	1	0	0	8	3	rs556592424		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:58577327A>C	ENST00000317147.5	-	31	4767				CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1540V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		aaaaaaaaaaaacacacagac	0.299													A|||	1	0.000199681	0	0	5008	,	,		18548	0		0.001	False		,,,				2504	0																0													20	20	20					16																	58577327		1013	2122	3135	SO:0001627	intron_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+183T>G	16.37:g.58577327A>C			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.F1540V	ENST00000317147.5	37	c.4618	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	4.645	0.119968	0.08881	.	.	ENSG00000125107	ENST00000441024	T	0.44482	0.92	1.6	-3.2	0.05156	.	.	.	.	.	T	0.28499	0.0705	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12400	-1.0549	8	0.87932	D	0	.	5.872	0.18809	0.2548:0.5872:0.158:0.0	.	1540	A5YKK6-4	.	V	1540	ENSP00000413113:F1540V	ENSP00000413113:F1540V	F	-	1	0	CNOT1	57134828	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.507000	0.22675	-2.105000	0.00842	-1.344000	0.01245	TTT	CNOT1	-	NULL	ENSG00000125107		0.299	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3		0	49	0	A	NM_016284		58577327	-1			no_errors	ENST00000441024	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.000	C	C	58577327	A	C	58577327	1	2	83	0	1	0	0	0	0	0	0	0	3624	14	1	4		4	CNOT1	16	58577327	Intron	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	886851	58577327	31777426	255	22138											
DUS2L	54920	genome.wustl.edu	37	chr16	68112390	68112390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttctcctctattgtcaccGttgctgaacaaaagtatcag	10	14	7	10	1	4	1	2	1	2	0	5	1	4	1	2	0	2	4	2	0	5	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:68112390G>T	ENST00000565263.1	+	16	1707	c.1213G>T	c.(1213-1215)Gtt>Ttt	p.V405F	DUS2_ENST00000358896.6_Missense_Mutation_p.V405F|DUS2_ENST00000432752.1_Missense_Mutation_p.V370F|RP11-67A1.2_ENST00000548144.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	405	DRBM.				negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TATTGTCACCGTTGCTGAACA	0.498																																																	0													193	174	180					16																	68112390		2198	4300	6498	SO:0001583	missense	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.1213G>T	16.37:g.68112390G>T	ENSP00000455229:p.Val405Phe		A8K3G3|Q4H4D9	Missense_Mutation	SNP	pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	p.V405F	ENST00000565263.1	37	c.1213	CCDS10859.1	16	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566069	0.65651	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.80653	-1.4;-1.4	5.93	5.93	0.95920	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.061449	0.64402	D	0.000005	D	0.86674	0.5989	M	0.80746	2.51	0.80722	D	1	P;B	0.38800	0.648;0.271	P;B	0.49301	0.606;0.337	T	0.82719	-0.0318	10	0.19147	T	0.46	-17.6471	18.1421	0.89643	0.0:0.0:1.0:0.0	.	370;405	E7EUN9;Q9NX74	.;DUS2L_HUMAN	F	405;370	ENSP00000351769:V405F;ENSP00000409498:V370F	ENSP00000351769:V405F	V	+	1	0	DUS2L	66669891	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.889000	0.63171	2.826000	0.97356	0.655000	0.94253	GTT	DUS2	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	ENSG00000167264		0.498	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2	HGNC	protein_coding	OTTHUMT00000268869.2	-	0	77	0	G	NM_017803		68112390	1	tier1	-	no_errors	ENST00000358896	ensembl	human	known	74_37	missense	32.35	46	22	SNP	1.000	T	T	68112390	G	T	68112390	3	4	83	1	0	0	0	0	1	0	0	0	4820	1145	40	2	1267	2	DUS2L	16	68112390	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	9535063	68112390	22242363	256	22139											
ATMIN	23300	genome.wustl.edu	37	chr16	81076086	81076086	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagatacctgcagaacacagGtgaagggaaagaaatgatgg	17	5	14	5	0	0	5	0	2	0	3	0	7	0	6	1	3	3	1	1	3	5	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr16:81076086G>A	ENST00000299575.4	+	3	686		c.e3+1		ATMIN_ENST00000564241.1_Splice_Site|ATMIN_ENST00000539819.1_Intron|ATMIN_ENST00000566488.1_Splice_Site	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor						cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAGAACACAGGTGAAGGGAAA	0.517																																																	0													66	48	54					16																	81076086		2202	4300	6502	SO:0001630	splice_region_variant	0			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"Zinc fingers, C2H2-type"	29034	protein-coding gene	gene with protein product	"ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein", "ATM INteracting protein"	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.662+1G>A	16.37:g.81076086G>A			A8K4H8|Q68DC9	Splice_Site	SNP	-	e3+1	ENST00000299575.4	37	c.662+1	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676452	0.67928	.	.	ENSG00000166454	ENST00000299575	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3817	0.94540	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATMIN	79633587	1.000000	0.71417	0.996000	0.52242	0.621000	0.37620	9.553000	0.98118	2.577000	0.86979	0.655000	0.94253	.	ATMIN	-	-	ENSG00000166454		0.517	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1		0	34	0	G	NM_015251	Intron	81076086	1			no_errors	ENST00000299575	ensembl	human	known	74_37	splice_site	20.69	23	6	SNP	1.000	A	A	81076086	G	A	81076086	5	1	83	1	0	0	0	0	0	0	1	0	1111	1275	44	3	673	3	ATMIN	16	81076086	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	12963696	81076086	9278667	257	22140											
PITPNM3	83394	genome.wustl.edu	37	chr17	6374666	6374666	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagggggctgtgggtgtgtAgggcatcagctggaggggga	7	7	23	4	0	1	1	1	0	0	1	1	3	1	3	0	7	1	4	0	7	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:6374666A>C	ENST00000262483.8	-	12	1526	c.1439T>G	c.(1438-1440)cTa>cGa	p.L480R	PITPNM3_ENST00000576664.1_Intron|PITPNM3_ENST00000421306.3_Missense_Mutation_p.L444R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	480	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GTGGGTGTGTAGGGCATCAGC	0.672																																																	0													18	20	20					17																	6374666		2200	4299	6499	SO:0001583	missense	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"GPCR / Class A : Chemokine receptors : Atypical"	21043	protein-coding gene	gene with protein product	"atypical chemokine receptor 6"	608921	"cone rod dystrophy 5"	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1439T>G	17.37:g.6374666A>C	ENSP00000262483:p.Leu480Arg		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.L480R	ENST00000262483.8	37	c.1439	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359494	0.61403	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.50548	0.75;0.74	4.78	4.78	0.61160	DDHD (2);	0.419471	0.21064	N	0.080778	T	0.55970	0.1954	L	0.39898	1.24	0.38031	D	0.93516	D;D	0.62365	0.991;0.989	P;P	0.61592	0.891;0.832	T	0.62895	-0.6757	10	0.87932	D	0	.	12.553	0.56238	1.0:0.0:0.0:0.0	.	444;480	F8WEW5;Q9BZ71	.;PITM3_HUMAN	R	480;444	ENSP00000262483:L480R;ENSP00000407882:L444R	ENSP00000262483:L480R	L	-	2	0	PITPNM3	6315390	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.450000	0.80656	1.920000	0.55613	0.459000	0.35465	CTA	PITPNM3	-	pfam_DDHD,pfscan_DDHD	ENSG00000091622		0.672	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	-	0	62	0	A	NM_031220		6374666	-1	tier1	-	no_errors	ENST00000262483	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	C	C	6374666	A	C	6374666	3	2	83	1	0	0	0	0	1	0	0	0	11991	420	15	4	1521	4	PITPNM3	17	6374666	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09		6374666	74820544	258	22141											
TP53	7157	genome.wustl.edu	37	chr17	7578412	7578412	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgggggcagcgcctcAcaacctccgtcatgtgctgt	6	9	13	13	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:7578412A>C	ENST00000269305.4	-	5	707	c.518T>G	c.(517-519)gTg>gGg	p.V173G	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V173G|TP53_ENST00000445888.2_Missense_Mutation_p.V173G|TP53_ENST00000455263.2_Missense_Mutation_p.V173G|TP53_ENST00000420246.2_Missense_Mutation_p.V173G|TP53_ENST00000359597.4_Missense_Mutation_p.V173G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCCTCACAACCTCCGT	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	46	Substitution - Missense(20)|Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(5)	large_intestine(9)|central_nervous_system(7)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|stomach(3)|biliary_tract(3)|oesophagus(3)|upper_aerodigestive_tract(2)|liver(2)|endometrium(1)|ovary(1)|prostate(1)|breast(1)											51	51	51					17																	7578412		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.518T>G	17.37:g.7578412A>C	ENSP00000269305:p.Val173Gly		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V173G	ENST00000269305.4	37	c.518	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	17.13	3.311672	0.60414	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.59	2.07	0.26955	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;1.0	D	0.98609	1.0662	10	0.87932	D	0	-25.5548	3.5237	0.07752	0.6522:0.1396:0.0747:0.1336	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173G;ENSP00000352610:V173G;ENSP00000269305:V173G;ENSP00000398846:V173G;ENSP00000391127:V173G;ENSP00000391478:V173G;ENSP00000425104:V41G;ENSP00000423862:V80G	ENSP00000269305:V173G	V	-	2	0	TP53	7519137	1.000000	0.71417	0.149000	0.22428	0.475000	0.33008	9.287000	0.95975	0.122000	0.18314	-0.256000	0.11100	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	42	0	A	NM_000546		7578412	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	75.00	8	24	SNP	0.995	C	C	7578412	A	C	7578412	3	2	83	1	0	0	0	0	1	0	0	0	16429	159	6	4	780	4	TP53	17	7578412	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	1203746	7578412	73616798	259	22142											
TMEM107	84314	genome.wustl.edu	37	chr17	8079571	8079571	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcgccaggagcgtcaggaAgcgagagggcacaagccctg	11	3	16	11	3	1	1	1	0	0	1	1	4	1	3	2	3	4	1	2	3	2	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:8079571A>T	ENST00000437139.2	-	1	121	c.34T>A	c.(34-36)Ttc>Atc	p.F12I	RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000449985.2_Missense_Mutation_p.F12I|TMEM107_ENST00000533070.1_Missense_Mutation_p.F12I|SNORD118_ENST00000363593.1_RNA|TMEM107_ENST00000316425.5_Missense_Mutation_p.F12I|TMEM107_ENST00000431792.2_Missense_Mutation_p.F12I|TMEM107_ENST00000532998.1_Missense_Mutation_p.F12I	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	12					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						AGCGTCAGGAAGCGAGAGGGC	0.622																																																	0													63	52	55					17																	8079571		2203	4300	6503	SO:0001583	missense	0			AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.34T>A	17.37:g.8079571A>T	ENSP00000402732:p.Phe12Ile		A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP	NULL	p.F12I	ENST00000437139.2	37	c.34	CCDS45607.1	17	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181642	0.78677	.	.	ENSG00000179029	ENST00000449985;ENST00000532998;ENST00000437139;ENST00000533070;ENST00000316425;ENST00000431792;ENST00000415860	.	.	.	5.6	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	M	0.80183	2.485	0.45634	D	0.998565	D;D;D;P	0.67145	0.996;0.996;0.989;0.932	D;D;D;P	0.77557	0.99;0.99;0.985;0.647	T	0.79169	-0.1914	9	0.87932	D	0	-35.8501	9.9502	0.41634	0.8291:0.1709:0.0:0.0	.	12;12;12;12	B3KNL7;Q6UX40-3;Q6UX40-4;Q6UX40	.;.;.;TM107_HUMAN	I	12	.	ENSP00000314116:F12I	F	-	1	0	TMEM107	8020296	1.000000	0.71417	0.994000	0.49952	0.217000	0.24651	7.858000	0.86971	1.040000	0.40099	-0.340000	0.08031	TTC	TMEM107	-	NULL	ENSG00000179029		0.622	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM107	HGNC	protein_coding	OTTHUMT00000388844.1		0	34	0	A	NM_032354		8079571	-1			no_errors	ENST00000316425	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	8079571	A	T	8079571	3	4	83	1	0	0	0	0	1	0	0	0	16070	72	3	5	426	5	TMEM107	17	8079571	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	501159	8079571	73115639	260	22143											
MYH2	4620	genome.wustl.edu	37	chr17	10441064	10441064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttccttcttgtactccTcctgctccagcacgaacatg	6	13	6	16	1	1	0	0	0	1	0	5	1	5	0	5	0	5	3	5	0	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:10441064T>C	ENST00000245503.5	-	15	1889	c.1505A>G	c.(1504-1506)gAg>gGg	p.E502G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.E502G|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E502G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	502	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTGTACTCCTCCTGCTCCAG	0.488																																																	0													184	154	165					17																	10441064		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1505A>G	17.37:g.10441064T>C	ENSP00000245503:p.Glu502Gly		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E502G	ENST00000245503.5	37	c.1505	CCDS11156.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	28.7|28.7	4.942035|4.942035	0.92526|0.92526	.|.	.|.	ENSG00000125414|ENSG00000214970	ENST00000532183;ENST00000245503;ENST00000397183|ENST00000399342	T;T;T|.	0.76316|.	-1.01;-1.01;-1.01|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Myosin head, motor domain (2);|.	0.000000|.	0.39687|.	U|.	0.001290|.	D|D	0.89487|0.89487	0.6729|0.6729	H|H	0.99104|0.99104	4.43|4.43	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.76494|.	0.999;0.974|.	D;D|.	0.81914|.	0.995;0.947|.	D|D	0.93690|0.93690	0.7006|0.7006	10|6	0.87932|0.87932	D|D	0|0	.|.	14.8155|14.8155	0.70031|0.70031	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	502;502|.	Q567P6;Q9UKX2|.	.;MYH2_HUMAN|.	G|P	502|46	ENSP00000433944:E502G;ENSP00000245503:E502G;ENSP00000380367:E502G|.	ENSP00000245503:E502G|ENSP00000382280:S46P	E|S	-|+	2|1	0|0	MYH2|AC005323.1	10381789|10381789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.004000|8.004000	0.88535|0.88535	2.105000|2.105000	0.64084|0.64084	0.533000|0.533000	0.62120|0.62120	GAG|TCC	MYH2	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000125414		0.488	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	199	0	T	NM_017534		10441064	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	53.33	49	56	SNP	1.000	C	C	10441064	T	C	10441064	3	2	83	1	0	0	0	0	1	0	0	0	10073	1551	54	4	4424	4	MYH2	17	10441064	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	2361493	10441064	70754146	261	22144											
FLOT2	2319	genome.wustl.edu	37	chr17	27209680	27209680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggcaaactggtcccggtCctgataaatctgctccactg	8	11	9	13	1	1	1	0	1	1	0	4	1	4	1	3	3	2	2	3	3	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:27209680C>A	ENST00000394908.4	-	5	480	c.376G>T	c.(376-378)Gac>Tac	p.D126Y	FLOT2_ENST00000394906.2_Missense_Mutation_p.D181Y|FLOT2_ENST00000585169.1_Missense_Mutation_p.D126Y|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	126					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTCCCGGTCCTGATAAATC	0.622																																																	0													74	79	77					17																	27209680		1945	4135	6080	SO:0001583	missense	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"Flotillin 2 (epidermal surface antigen 1)", "membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.376G>T	17.37:g.27209680C>A	ENSP00000378368:p.Asp126Tyr			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.D126Y	ENST00000394908.4	37	c.376	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776739	0.90195	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	D;D	0.94280	-3.39;-3.39	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98953	1.0795	10	0.87932	D	0	-27.7552	18.2754	0.90081	0.0:1.0:0.0:0.0	.	126	Q14254	FLOT2_HUMAN	Y	181;126	ENSP00000378366:D181Y;ENSP00000378368:D126Y	ENSP00000378366:D181Y	D	-	1	0	FLOT2	24233806	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.794000	0.85869	2.675000	0.91044	0.462000	0.41574	GAC	FLOT2	-	pfam_Band_7,smart_Band_7	ENSG00000132589		0.622	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	-	0	12	0	C	NM_004475		27209680	-1	tier1	-	no_errors	ENST00000394908	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	A	A	27209680	C	A	27209680	3	1	83	1	0	0	0	0	1	0	0	0	5959	855	30	3	938	3	FLOT2	17	27209680	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	16768616	27209680	53985530	262	22145											
MYO1D	4642	genome.wustl.edu	37	chr17	31102928	31102929	+	Frame_Shift_Ins	INS	-	-	A																															cccaccaatagggtcaccctINStgaagtcaaagttgatatcc																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:31102928_31102929insA	ENST00000318217.5	-	4	821_822	c.517_518insT	c.(517-519)aagfs	p.K173fs	MYO1D_ENST00000579584.1_Frame_Shift_Ins_p.K173fs|MYO1D_ENST00000394649.4_Frame_Shift_Ins_p.K85fs|MYO1D_ENST00000583621.1_Frame_Shift_Ins_p.K173fs	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	173	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AGGGTCACCCTTGAAGTCAAAG	0.356																																																	0																																										SO:0001589	frameshift_variant	0			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"Myosins / Myosin superfamily : Class I"	7598	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 108"	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.517_518insT	17.37:g.31102928_31102929insA	ENSP00000324527:p.Lys173fs		A6H8V3|Q8NHP9	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K173fs	ENST00000318217.5	37	c.518_517	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000176658		0.356	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1		0	67	0	-			31102929	-1	tier1		no_errors	ENST00000318217	ensembl	human	known	74_37	frame_shift_ins	22.22	28	8	INS	1.000:1.000	A	A	31102929	-	A	31102928	7	5	83	1	0	1	1	0	0	0	0	0	10109	1609	56	0	2578	0	MYO1D	17	31102928	Frame_Shift_Ins	INS	-	TCGA-L5-A8NI-01A-11D-A37C-09	3893248	31102928	50092282	263	22146											
AMAC1	146861	genome.wustl.edu	37	chr17	33521184	33521184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgaagccagcaggcaggCccccacccagcagggccacc	10	0	11	20	1	0	0	0	0	0	0	0	1	0	0	7	3	3	3	7	3	1	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:33521184C>T	ENST00000297307.5	-	1	228	c.143G>A	c.(142-144)gGc>gAc	p.G48D	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	48						integral component of membrane (GO:0016021)											AGCAGGCAGGCCCCCACCCAG	0.682																																																	0													47	53	51					17																	33521184		2203	4297	6500	SO:0001583	missense	0			AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"Solute carriers"	26848	protein-coding gene	gene with protein product			"transmembrane protein 21A", "acyl-malonyl condensing enzyme 1"	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.143G>A	17.37:g.33521184C>T	ENSP00000297307:p.Gly48Asp		B9EGE9	Missense_Mutation	SNP	pfam_DMT	p.G48D	ENST00000297307.5	37	c.143	CCDS11293.1	17	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896592	0.33442	.	.	ENSG00000164729	ENST00000297307	T	0.33438	1.41	.	.	.	.	0.000000	0.45867	D	0.000333	T	0.33177	0.0854	L	0.27053	0.805	0.34310	D	0.68534	D	0.89917	1.0	D	0.91635	0.999	T	0.43686	-0.9376	9	0.66056	D	0.02	-7.1546	3.5985	0.08016	2.0E-4:0.5013:0.4982:2.0E-4	.	48	Q8N808	S35G3_HUMAN	D	48	ENSP00000297307:G48D	ENSP00000297307:G48D	G	-	2	0	SLC35G3	30545297	0.257000	0.24022	0.379000	0.26080	0.382000	0.30200	0.823000	0.27366	0.064000	0.16427	0.064000	0.15345	GGC	SLC35G3	-	NULL	ENSG00000164729		0.682	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G3	HGNC	protein_coding	OTTHUMT00000256445.2		0	114	0	C	NM_152462		33521184	-1			no_errors	ENST00000297307	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.997	T	T	33521184	C	T	33521184	3	4	83	1	0	0	0	0	1	0	0	0	559	739	26	3	877	3	AMAC1	17	33521184	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	2418256	33521184	47674026	264	22147											
CCL16	6360	genome.wustl.edu	37	chr17	34305260	34305260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactttctcataatacttcAggcagcaggtggatggggtg	10	11	12	8	0	2	0	2	0	1	0	3	1	2	1	0	5	2	2	0	5	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:34305260A>G	ENST00000293275.3	-	2	191	c.116T>C	c.(115-117)cTg>cCg	p.L39P		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	39					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAATACTTCAGGCAGCAGGT	0.522																																																	0													208	197	201					17																	34305260		2203	4300	6503	SO:0001583	missense	0			AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"Chemokine ligands", "Endogenous ligands"	10614	protein-coding gene	gene with protein product		601394	"small inducible cytokine subfamily A (Cys-Cys), member 16"	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.116T>C	17.37:g.34305260A>G	ENSP00000293275:p.Leu39Pro		Q4KKU0	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.L39P	ENST00000293275.3	37	c.116	CCDS11303.1	17	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413867	0.62511	.	.	ENSG00000161573	ENST00000293275	T	0.07908	3.15	5.04	-2.49	0.06403	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	1.348460	0.05506	N	0.559313	T	0.25568	0.0622	M	0.86651	2.83	0.22656	N	0.99889	D	0.69078	0.997	D	0.72625	0.978	T	0.32079	-0.9920	10	0.87932	D	0	.	0.2918	0.00259	0.2838:0.1522:0.2678:0.2961	.	39	O15467	CCL16_HUMAN	P	39	ENSP00000293275:L39P	ENSP00000293275:L39P	L	-	2	0	CCL16	31329373	0.000000	0.05858	0.006000	0.13384	0.550000	0.35303	-0.926000	0.03988	-0.384000	0.07845	0.460000	0.39030	CTG	CCL16	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000161573		0.522	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL16	HGNC	protein_coding	OTTHUMT00000256579.1		0	55	0	A	NM_004590		34305260	-1			no_errors	ENST00000293275	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.004	G	G	34305260	A	G	34305260	3	3	83	1	0	0	0	0	1	0	0	0	2894	188	7	4	254	4	CCL16	17	34305260	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	784076	34305260	46889950	265	22148											
BRCA1	672	genome.wustl.edu	37	chr17	41203114	41203114	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagggcccatagcaacaGatttctagccccctgaagat	12	8	10	11	0	1	4	0	2	1	2	1	4	1	4	3	1	3	1	3	1	5	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:41203114G>T	ENST00000357654.3	-	20	5416	c.5298C>A	c.(5296-5298)atC>atA	p.I1766I	BRCA1_ENST00000491747.2_Silent_p.I662I|BRCA1_ENST00000591534.1_Silent_p.I257I|BRCA1_ENST00000351666.3_Silent_p.I583I|BRCA1_ENST00000352993.3_Silent_p.I624I|BRCA1_ENST00000354071.3_Silent_p.I1501I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Silent_p.I76I|BRCA1_ENST00000309486.4_Silent_p.I1470I|BRCA1_ENST00000471181.2_Silent_p.I1787I|BRCA1_ENST00000493795.1_Silent_p.I1719I|BRCA1_ENST00000468300.1_Silent_p.I662I|BRCA1_ENST00000346315.3_Silent_p.I1527I	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1766	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.		I -> S (in BC; unknown pathological significance). {ECO:0000269|PubMed:17924331}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATAGCAACAGATTTCTAGCC	0.453			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													69	68	69					17																	41203114		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5298C>A	17.37:g.41203114G>T			O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.I1787	ENST00000357654.3	37	c.5361	CCDS11453.1	17																																																																																			BRCA1	-	pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000012048		0.453	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0	44	0	G	NM_007294		41203114	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	silent	73.08	14	38	SNP	1.000	T	T	41203114	G	T	41203114	2	4	83	1	0	0	0	0	0	0	0	1	1502	932	33	3		3	BRCA1	17	41203114	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	6897854	41203114	39992096	266	22149											
FMNL1	752	genome.wustl.edu	37	chr17	43319299	43319299	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccctccccgcaggaagcCccgccctctgcgcccccaca	5	4	7	25	3	1	0	0	0	1	0	3	1	3	1	9	1	2	1	9	1	1	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:43319299C>G	ENST00000331495.3	+	15	2007	c.1671C>G	c.(1669-1671)gcC>gcG	p.A557A	CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Silent_p.A557A|CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000587489.1_Silent_p.A135A	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	557	Pro-rich.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						cgcaggaagccccgccctctg	0.806																																					GBM(164;1247 1997 8702 11086 51972)												0													1	1	1					17																	43319299		403	1082	1485	SO:0001819	synonymous_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"formin-like"	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1671C>G	17.37:g.43319299C>G			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.A557	ENST00000331495.3	37	c.1671	CCDS11497.1	17																																																																																			FMNL1	-	NULL	ENSG00000184922		0.806	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1		0	11	0	C	NM_005892		43319299	1			no_errors	ENST00000328118	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.941	G	G	43319299	C	G	43319299	2	3	83	1	0	0	0	0	0	0	0	1	5973	610	22	5		5	FMNL1	17	43319299	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	2116185	43319299	37875911	267	22150											
HOXB2	3212	genome.wustl.edu	37	chr17	46621976	46621976	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggcggatttcttctCtttcatccaagggaactcgg	6	16	9	10	2	4	0	1	0	3	0	7	2	5	2	1	4	1	0	1	4	2	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:46621976C>A	ENST00000330070.4	-	1	1465	c.298G>T	c.(298-300)Gag>Tag	p.E100*	HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB2_ENST00000504772.3_5'Flank	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	100					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GATTTCTTCTCTTTCATCCAA	0.692																																																	0													19	27	24					17																	46621976		2194	4294	6488	SO:0001587	stop_gained	0				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"Homeoboxes / ANTP class : HOXL subclass"	5113	protein-coding gene	gene with protein product		142967	"homeo box B2"	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.298G>T	17.37:g.46621976C>A	ENSP00000331741:p.Glu100*		P10913|P17485	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.E100*	ENST00000330070.4	37	c.298	CCDS11527.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.276967|14.276967	0.99788|0.99788	.|.	.|.	ENSG00000173917|ENSG00000173917	ENST00000330070|ENST00000326226	.|.	.|.	.|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.128620|.	0.51477|.	D|.	0.000081|.	.|T	.|0.76793	.|0.4037	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80221	.|-0.1472	.|4	0.54805|0.72032	T|D	0.06|0.01	.|.	17.3735|17.3735	0.87385|0.87385	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	100|14	.|.	ENSP00000331741:E100X|ENSP00000316334:R14I	E|R	-|-	1|2	0|0	HOXB2|HOXB2	43976975|43976975	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.114000|7.114000	0.77103|0.77103	2.629000|2.629000	0.89072|0.89072	0.650000|0.650000	0.86243|0.86243	GAG|AGA	HOXB2	-	NULL	ENSG00000173917		0.692	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	-	0	171	0	C			46621976	-1	tier1	-	no_errors	ENST00000330070	ensembl	human	known	74_37	nonsense	26.01	128	45	SNP	1.000	A	A	46621976	C	A	46621976	4	1	83	1	0	0	0	0	0	1	0	0	7328	922	32	3	780	3	HOXB2	17	46621976	Nonsense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	3302677	46621976	34573234	268	22151											
CACNA1G	8913	genome.wustl.edu	37	chr17	48646258	48646258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcgcatcagcatgttggtCatccttctcaactgcgtgac	8	11	10	12	2	3	1	3	1	1	0	5	2	4	1	1	1	4	3	1	1	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:48646258C>T	ENST00000359106.5	+	2	270	c.270C>T	c.(268-270)gtC>gtT	p.V90V	CACNA1G_ENST00000507336.1_Silent_p.V90V|CACNA1G_ENST00000513689.2_Silent_p.V90V|CACNA1G_ENST00000429973.2_Silent_p.V90V|CACNA1G_ENST00000513964.1_Silent_p.V90V|CACNA1G_ENST00000515411.1_Silent_p.V90V|CACNA1G_ENST00000507609.1_Silent_p.V90V|CACNA1G_ENST00000360761.4_Silent_p.V90V|CACNA1G_ENST00000442258.2_Silent_p.V90V|CACNA1G_ENST00000514181.1_Silent_p.V90V|CACNA1G_ENST00000358244.5_Silent_p.V90V|CACNA1G_ENST00000515165.1_Silent_p.V90V|CACNA1G_ENST00000512389.1_Silent_p.V90V|CACNA1G_ENST00000514717.1_Silent_p.V90V|CACNA1G_ENST00000416767.4_Silent_p.V90V|CACNA1G_ENST00000502264.1_Silent_p.V90V|CACNA1G_ENST00000510366.1_Silent_p.V90V|CACNA1G_ENST00000507896.1_Silent_p.V90V|CACNA1G_ENST00000515765.1_Silent_p.V90V|CACNA1G_ENST00000503485.1_Silent_p.V90V|CACNA1G_ENST00000354983.4_Silent_p.V90V|CACNA1G_ENST00000352832.5_Silent_p.V90V|CACNA1G_ENST00000510115.1_Silent_p.V90V|CACNA1G_ENST00000514079.1_Silent_p.V90V|CACNA1G_ENST00000507510.2_Silent_p.V90V|CACNA1G_ENST00000505165.1_Silent_p.V90V	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	90					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCATGTTGGTCATCCTTCTCA	0.622																																																	0													92	94	93					17																	48646258		2165	4256	6421	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.270C>T	17.37:g.48646258C>T			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.V90	ENST00000359106.5	37	c.270	CCDS45730.1	17																																																																																			CACNA1G	-	NULL	ENSG00000006283		0.622	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	-	0	44	0	C	NM_018896		48646258	1	tier1	-	no_errors	ENST00000359106	ensembl	human	known	74_37	silent	19.64	45	11	SNP	0.994	T	T	48646258	C	T	48646258	2	4	83	1	0	0	0	0	0	0	0	1	2551	813	29	3		3	CACNA1G	17	48646258	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	2024282	48646258	32548952	269	22152											
AKAP1	8165	genome.wustl.edu	37	chr17	55182920	55182920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctcgtaaaaaaggccAtgtcagcagccatgatgagc	12	10	9	10	1	2	2	1	2	1	0	4	2	2	2	2	1	3	2	2	1	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:55182920A>G	ENST00000337714.3	+	2	328	c.95A>G	c.(94-96)cAt>cGt	p.H32R	AKAP1_ENST00000314126.3_Missense_Mutation_p.H32R|AKAP1_ENST00000571629.1_Missense_Mutation_p.H32R|AKAP1_ENST00000572557.1_Missense_Mutation_p.H32R|AKAP1_ENST00000539273.1_Missense_Mutation_p.H32R	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	32					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAAAAAGGCCATGTCAGCAGC	0.592																																																	0													58	54	55					17																	55182920		2203	4300	6503	SO:0001583	missense	0			X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Tudor domain containing"	367	protein-coding gene	gene with protein product	"protein kinase anchoring protein 1", "dual specificity A-kinase-anchoring protein 1", "protein phosphatase 1, regulatory subunit 43", "tudor domain containing 17"	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.95A>G	17.37:g.55182920A>G	ENSP00000337736:p.His32Arg		A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.H32R	ENST00000337714.3	37	c.95	CCDS11594.1	17	.	.	.	.	.	.	.	.	.	.	A	9.996	1.232098	0.22626	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.15017	2.46;2.46;2.46	5.34	0.511	0.16989	.	0.990216	0.08242	N	0.975989	T	0.10165	0.0249	L	0.35723	1.085	0.24853	N	0.992394	B	0.06786	0.001	B	0.04013	0.001	T	0.40608	-0.9554	10	0.02654	T	1	-0.377	4.6904	0.12778	0.5654:0.1555:0.2791:0.0	.	32	Q92667	AKAP1_HUMAN	R	32;32;74;32	ENSP00000337736:H32R;ENSP00000314075:H32R;ENSP00000443139:H32R	ENSP00000314075:H32R	H	+	2	0	AKAP1	52537919	0.128000	0.22383	0.007000	0.13788	0.155000	0.21991	0.482000	0.22276	0.036000	0.15547	0.533000	0.62120	CAT	AKAP1	-	NULL	ENSG00000121057		0.592	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP1	HGNC	protein_coding	OTTHUMT00000277069.1	-	0	62	0	A			55182920	1	tier1	-	no_errors	ENST00000337714	ensembl	human	known	74_37	missense	60.00	16	24	SNP	0.405	G	G	55182920	A	G	55182920	3	3	83	1	0	0	0	0	1	0	0	0	445	217	8	4	97	4	AKAP1	17	55182920	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	6536662	55182920	26012290	270	22153											
SLC9A3R1	9368	genome.wustl.edu	37	chr17	72764629	72764629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcccaagacagcccccCaaaacaggactccacagcgc	14	3	7	17	1	0	1	0	0	0	1	2	3	2	2	5	1	3	0	5	1	4	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr17:72764629C>G	ENST00000262613.5	+	6	1106	c.911C>G	c.(910-912)cCa>cGa	p.P304R	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.P148R	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	304					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						GACAGCCCCCCAAAACAGGAC	0.582																																																	0													183	191	188					17																	72764629		2203	4300	6503	SO:0001583	missense	0			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.911C>G	17.37:g.72764629C>G	ENSP00000262613:p.Pro304Arg		B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.P304R	ENST00000262613.5	37	c.911	CCDS11705.1	17	.	.	.	.	.	.	.	.	.	.	C	4.289	0.052845	0.08291	.	.	ENSG00000109062	ENST00000262613	T	0.28895	1.59	4.95	1.43	0.22495	.	1.375620	0.04370	N	0.358899	T	0.20170	0.0485	N	0.19112	0.55	0.23381	N	0.997799	B	0.02656	0.0	B	0.01281	0.0	T	0.24440	-1.0160	10	0.16420	T	0.52	-14.8033	7.6841	0.28530	0.7695:0.1456:0.0849:0.0	.	304	O14745	NHRF1_HUMAN	R	304	ENSP00000262613:P304R	ENSP00000262613:P304R	P	+	2	0	SLC9A3R1	70276224	1.000000	0.71417	0.993000	0.49108	0.375000	0.29983	0.449000	0.21744	-0.029000	0.13827	-1.521000	0.00933	CCA	SLC9A3R1	-	pirsf_NaH_exchngr_reg_CF_NHE-RF	ENSG00000109062		0.582	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R1	HGNC	protein_coding	OTTHUMT00000443671.1	-	0	73	0	C			72764629	1	tier1	-	no_errors	ENST00000262613	ensembl	human	known	74_37	missense	64.79	25	46	SNP	0.998	G	G	72764629	C	G	72764629	3	3	83	1	0	0	0	0	1	0	0	0	14759	594	21	5	933	5	SLC9A3R1	17	72764629	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	17581709	72764629	8430581	271	22154											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6870651	6870651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgtcatttgaagtgtctTattcagaaatggttacggag	11	14	11	5	1	3	2	2	1	1	1	3	3	3	3	0	2	2	2	0	2	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr18:6870651T>C	ENST00000383472.4	+	7	978	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.Y133H|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.Y292H|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.Y133H|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.Y133H|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.Y115H|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.Y240H|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.Y128H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	292					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGAAGTGTCTTATTCAGAAAT	0.323																																																	0													76	86	83					18																	6870651		2203	4298	6501	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.874T>C	18.37:g.6870651T>C	ENSP00000372964:p.Tyr292His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Y292H	ENST00000383472.4	37	c.874		18	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396412	0.83011	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.15256	2.91;2.87;2.46;2.45;2.46;2.44	5.43	5.43	0.79202	.	0.109437	0.64402	D	0.000006	T	0.38081	0.1027	L	0.60455	1.87	0.38616	D	0.951029	D;D;D;D	0.89917	0.998;0.999;1.0;1.0	D;D;D;D	0.79784	0.93;0.984;0.993;0.987	T	0.15235	-1.0444	10	0.38643	T	0.18	.	15.7693	0.78152	0.0:0.0:0.0:1.0	.	292;124;133;240	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	H	292;240;133;128;133;133;124;115	ENSP00000382963:Y292H;ENSP00000262227:Y240H;ENSP00000392660:Y133H;ENSP00000437262:Y128H;ENSP00000313506:Y133H;ENSP00000406907:Y133H	ENSP00000262227:Y240H	Y	+	1	0	ARHGAP28	6860651	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.407000	0.66363	2.180000	0.69256	0.533000	0.62120	TAT	ARHGAP28	-	NULL	ENSG00000088756		0.323	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	60	0	T	XM_371108		6870651	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	C	C	6870651	T	C	6870651	3	2	83	1	0	0	0	0	1	0	0	0	877	1754	61	4	415	4	ARHGAP28	18	6870651	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09		6870651	71206597	272	22155											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14851980	14851980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatacaatatataacaatgAggtgctccatcaaccacttt	16	12	4	9	0	1	1	1	1	0	0	2	1	2	1	2	1	4	1	2	1	8	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr18:14851980A>G	ENST00000358984.4	+	36	3860	c.3680A>G	c.(3679-3681)gAg>gGg	p.E1227G		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1227										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TATAACAATGAGGTGCTCCAT	0.358																																																	0													8	8	8					18																	14851980		690	1575	2265	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3680A>G	18.37:g.14851980A>G	ENSP00000351875:p.Glu1227Gly		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1227G	ENST00000358984.4	37	c.3680	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	A	5.129	0.209327	0.09757	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.17854	2.25	1.39	1.39	0.22231	.	.	.	.	.	T	0.25568	0.0622	L	0.58101	1.795	0.22737	N	0.998797	P;D	0.58620	0.917;0.983	B;P	0.53861	0.292;0.736	T	0.07558	-1.0766	9	0.59425	D	0.04	.	6.8687	0.24108	1.0:0.0:0.0:0.0	.	1312;1227	Q9BXX2;F8WAG3	AN30B_HUMAN;.	G	1227;621;647	ENSP00000351875:E1227G	ENSP00000277669:E647G	E	+	2	0	ANKRD30B	14841980	0.901000	0.30685	0.023000	0.16930	0.077000	0.17291	2.457000	0.45005	0.889000	0.36185	0.145000	0.16022	GAG	ANKRD30B	-	NULL	ENSG00000180777		0.358	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	64	0	A	NM_001145029		14851980	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	missense	27.85	56	22	SNP	0.211	G	G	14851980	A	G	14851980	3	3	83	1	0	0	0	0	1	0	0	0	659	304	11	4	3822	4	ANKRD30B	18	14851980	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	7981329	14851980	63225268	273	22156											
ACAA2	10449	genome.wustl.edu	37	chr18	47320775	47320775	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgctgatctgttaatGatacccataaagaatcttcc	13	12	7	9	0	2	3	0	2	2	1	3	4	3	4	2	1	2	2	2	1	5	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr18:47320775G>T	ENST00000285093.10	-	5	927	c.452C>A	c.(451-453)tCa>tAa	p.S151*	ACAA2_ENST00000589432.1_Nonsense_Mutation_p.S96*|ACAA2_ENST00000587994.1_Nonsense_Mutation_p.S148*	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	151					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						ATCTGTTAATGATACCCATAA	0.328																																																	0													63	54	57					18																	47320775		2203	4300	6503	SO:0001587	stop_gained	0			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.452C>A	18.37:g.47320775G>T	ENSP00000285093:p.Ser151*		Q9BUT6	Nonsense_Mutation	SNP	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.S151*	ENST00000285093.10	37	c.452	CCDS11939.1	18	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463876	0.63513	.	.	ENSG00000167315	ENST00000285093	.	.	.	5.57	-7.6	0.01303	.	0.570674	0.20238	N	0.096335	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	3.2502	28.8086	0.99999	0.0:0.6539:0.3461:0.0	.	.	.	.	X	151	.	ENSP00000285093:S151X	S	-	2	0	ACAA2	45574773	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.318000	0.19504	-1.196000	0.02676	-1.113000	0.02065	TCA	ACAA2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000167315		0.328	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2		0	61	0	G	NM_006111		47320775	-1			no_errors	ENST00000285093	ensembl	human	known	74_37	nonsense	6.25	45	3	SNP	0.000	T	T	47320775	G	T	47320775	4	4	83	1	0	0	0	0	0	1	0	0	105	1294	45	3	765	3	ACAA2	18	47320775	Nonsense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	32468795	47320775	30756473	274	22157											
POLI	11201	genome.wustl.edu	37	chr18	51820113	51820113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaagtacaagaactaGggagtctccactagatacca	17	8	8	8	0	1	3	0	1	1	2	2	4	1	4	2	1	3	1	2	1	8	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr18:51820113G>T	ENST00000579534.1	+	10	1642	c.1499G>T	c.(1498-1500)aGg>aTg	p.R500M	POLI_ENST00000217800.5_Missense_Mutation_p.R374M|POLI_ENST00000406285.3_Missense_Mutation_p.R421M|POLI_ENST00000579434.1_Missense_Mutation_p.R397M|POLI_ENST00000582366.1_3'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	500					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		ACAAGAACTAGGGAGTCTCCA	0.368								DNA polymerases (catalytic subunits)																																									0													22	23	23					18																	51820113		2202	4298	6500	SO:0001583	missense	0				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"DNA polymerases"	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.1499G>T	18.37:g.51820113G>T	ENSP00000462664:p.Arg500Met		Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N	p.R500M	ENST00000579534.1	37	c.1499	CCDS11954.2	18	.	.	.	.	.	.	.	.	.	.	G	1.324	-0.598794	0.03744	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.44482	0.92	5.17	3.34	0.38264	.	0.833891	0.11005	N	0.610119	T	0.24122	0.0584	N	0.22421	0.69	0.22896	N	0.998597	P;P	0.46457	0.85;0.878	B;B	0.37198	0.188;0.243	T	0.09707	-1.0662	10	0.46703	T	0.11	-2.2582	4.2398	0.10642	0.0864:0.1569:0.5948:0.162	.	420;500	B7Z780;Q9UNA4	.;POLI_HUMAN	M	421;500	ENSP00000385196:R421M	ENSP00000217800:R500M	R	+	2	0	POLI	50074111	0.001000	0.12720	0.336000	0.25522	0.136000	0.21042	0.213000	0.17521	0.651000	0.30788	-0.140000	0.14226	AGG	POLI	-	NULL	ENSG00000101751		0.368	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLI	HGNC	protein_coding	OTTHUMT00000256002.3		0	39	0	G	NM_007195		51820113	1			no_errors	ENST00000579534	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.565	T	T	51820113	G	T	51820113	3	4	83	1	0	0	0	0	1	0	0	0	12242	1000	35	3	1537	3	POLI	18	51820113	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	4499338	51820113	26257135	275	22158											
GALR1	2587	genome.wustl.edu	37	chr18	74968128	74968128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaggtccttaatcacttGcataaaaagttgaagaacat	15	13	6	7	0	2	2	2	1	0	1	3	2	3	2	1	1	2	2	1	1	6	5			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr18:74968128G>T	ENST00000299727.3	+	2	681	c.681G>T	c.(679-681)ttG>ttT	p.L227F	GALR1_ENST00000582943.1_3'UTR	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	227					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTAATCACTTGCATAAAAAGT	0.343																																																	0													132	130	131					18																	74968128		2203	4300	6503	SO:0001583	missense	0			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"GPCR / Class A : Galanin receptors"	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.681G>T	18.37:g.74968128G>T	ENSP00000299727:p.Leu227Phe		Q4VBL7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt	p.L227F	ENST00000299727.3	37	c.681	CCDS12012.1	18	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817111	0.50633	.	.	ENSG00000166573	ENST00000299727	T	0.52057	0.68	4.48	1.63	0.23807	GPCR, rhodopsin-like superfamily (1);	0.322160	0.29515	N	0.011928	T	0.70815	0.3267	H	0.94771	3.58	0.58432	D	0.999999	D	0.67145	0.996	D	0.66351	0.943	T	0.72773	-0.4192	10	0.72032	D	0.01	.	8.0215	0.30412	0.2815:0.0:0.7185:0.0	.	227	P47211	GALR1_HUMAN	F	227	ENSP00000299727:L227F	ENSP00000299727:L227F	L	+	3	2	GALR1	73097116	1.000000	0.71417	0.992000	0.48379	0.842000	0.47809	0.726000	0.25984	0.455000	0.26910	0.467000	0.42956	TTG	GALR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt	ENSG00000166573		0.343	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR1	HGNC	protein_coding	OTTHUMT00000256362.1		0	59	0	G			74968128	1			no_errors	ENST00000299727	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	74968128	G	T	74968128	3	4	83	1	0	0	0	0	1	0	0	0	6252	1310	46	3	687	3	GALR1	18	74968128	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	23148015	74968128	3109120	276	22159											
TMEM146	257062	genome.wustl.edu	37	chr19	5754154	5754154	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaactagatagagtttctGacaggagaatttatatacag	15	14	8	4	0	1	4	0	1	1	3	1	5	1	4	0	1	2	1	0	1	7	9			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:5754154G>T	ENST00000381624.3	+	13	1237	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.L50L	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	392					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TAGAGTTTCTGACAGGAGAAT	0.463																																																	0													150	151	151					19																	5754154		1888	4123	6011	SO:0001819	synonymous_variant	0			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"transmembrane protein 146"	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1176G>T	19.37:g.5754154G>T			Q6ZRP1	Silent	SNP	superfamily_WD40_repeat_dom	p.L392	ENST00000381624.3	37	c.1176	CCDS12149.2	19																																																																																			CATSPERD	-	NULL	ENSG00000174898		0.463	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	-	0	67	0	G	NM_152784		5754154	1	tier1	-	no_errors	ENST00000381624	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.007	T	T	5754154	G	T	5754154	2	4	83	1	0	0	0	0	0	0	0	1	16107	1277	45	3		3	TMEM146	19	5754154	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		5754154	53374829	277	22160											
HSH2D	84941	genome.wustl.edu	37	chr19	16268588	16268588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacaaccgccaccctttGcccctgggtactgctagaga	10	7	8	16	1	0	1	0	0	0	1	0	2	0	1	6	1	5	2	6	1	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:16268588G>T	ENST00000253680.6	+	9	1573	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	HSH2D_ENST00000593154.2_3'UTR|HSH2D_ENST00000588246.1_3'UTR|HSH2D_ENST00000397372.4_Missense_Mutation_p.A258S			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	348					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GCCACCCTTTGCCCCTGGGTA	0.612																																																	0													24	28	27					19																	16268588		1952	4152	6104	SO:0001583	missense	0			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.1042G>T	19.37:g.16268588G>T	ENSP00000253680:p.Ala348Ser		B5ME72|Q6ZNG7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.A348S	ENST00000253680.6	37	c.1042		19	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010263	0.54361	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	T	0.61510	0.1	4.16	4.16	0.48862	.	0.000000	0.53938	D	0.000059	T	0.73583	0.3605	.	.	.	0.34795	D	0.736161	D	0.76494	0.999	D	0.75484	0.986	T	0.82598	-0.0378	9	0.87932	D	0	.	12.6744	0.56884	0.0:0.0:1.0:0.0	.	348	Q96JZ2	HSH2D_HUMAN	S	258;348	ENSP00000253680:A348S	ENSP00000253680:A348S	A	+	1	0	HSH2D	16129588	0.998000	0.40836	0.953000	0.39169	0.149000	0.21700	4.561000	0.60809	2.263000	0.75096	0.462000	0.41574	GCC	HSH2D	-	NULL	ENSG00000196684		0.612	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	HSH2D	HGNC	protein_coding			0	56	0	G	NM_032855		16268588	1			no_errors	ENST00000253680	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.992	T	T	16268588	G	T	16268588	3	4	83	1	0	0	0	0	1	0	0	0	7427	1319	46	3	1061	3	HSH2D	19	16268588	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	10514434	16268588	42860395	278	22161											
EPS15L1	58513	genome.wustl.edu	37	chr19	16472781	16472781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaaccaagctggcttaCaggtgtacttttacctggaa	10	11	11	9	1	0	0	0	0	0	0	0	2	0	2	2	4	6	3	2	4	6	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:16472781C>T	ENST00000248070.6	-	23	2534	c.2395G>A	c.(2395-2397)Gta>Ata	p.V799I	EPS15L1_ENST00000535753.2_Silent_p.L754L|EPS15L1_ENST00000455140.2_Missense_Mutation_p.V799I|EPS15L1_ENST00000594975.1_Silent_p.L756L	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	799	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGCTGGCTTACAGGTGTACTT	0.507																																																	0													26	35	32					19																	16472781		2202	4300	6502	SO:0001583	missense	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2395G>A	19.37:g.16472781C>T	ENSP00000248070:p.Val799Ile		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V799I	ENST00000248070.6	37	c.2395	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236418	0.22711	.	.	ENSG00000127527	ENST00000455140;ENST00000248070	T;T	0.53857	0.6;0.6	4.63	3.6	0.41247	.	0.068305	0.64402	N	0.000019	T	0.52386	0.1731	N	0.25286	0.73	0.80722	D	1	D;B	0.64830	0.994;0.2	D;B	0.70716	0.97;0.061	T	0.41538	-0.9503	10	0.10636	T	0.68	.	11.8017	0.52130	0.0:0.9147:0.0:0.0853	.	799;799	Q9UBC2;G3V0H2	EP15R_HUMAN;.	I	799	ENSP00000393313:V799I;ENSP00000248070:V799I	ENSP00000248070:V799I	V	-	1	0	EPS15L1	16333781	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	4.444000	0.60001	0.968000	0.38212	0.561000	0.74099	GTA	EPS15L1	-	NULL	ENSG00000127527		0.507	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	-	0	96	0	C	NM_021235		16472781	-1	tier1	-	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	26.26	72	26	SNP	0.998	T	T	16472781	C	T	16472781	3	4	83	1	0	0	0	0	1	0	0	0	5209	478	17	3	203	3	EPS15L1	19	16472781	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	204193	16472781	42656202	279	22162											
B3GNT3	10331	genome.wustl.edu	37	chr19	17922892	17922892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggatgcgctgaaccaGcccaacctcacctgcggcaa	10	6	11	14	2	1	1	1	1	0	0	1	2	1	2	4	2	5	2	4	2	3	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:17922892G>A	ENST00000318683.6	+	3	1227	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	B3GNT3_ENST00000595387.1_Silent_p.Q360Q	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	360					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGCTGAACCAGCCCAACCTCA	0.582																																																	0													44	39	41					19																	17922892		2200	4275	6475	SO:0001819	synonymous_variant	0			AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"Beta 3-glycosyltransferases"	13528	protein-coding gene	gene with protein product	"putative type II membrane protein", "beta-1,3-N-acetylglucosaminyltransferase bGnT-3", "transmembrane protein 3"	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.1080G>A	19.37:g.17922892G>A			B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Silent	SNP	pfam_Glyco_trans_31	p.Q360	ENST00000318683.6	37	c.1080	CCDS12364.1	19																																																																																			B3GNT3	-	NULL	ENSG00000179913		0.582	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT3	HGNC	protein_coding	OTTHUMT00000466877.1	-	0	35	0	G	NM_014256		17922892	1	tier1	-	no_errors	ENST00000318683	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.022	A	A	17922892	G	A	17922892	2	1	83	1	0	0	0	0	0	0	0	1	1259	962	34	3		3	B3GNT3	19	17922892	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1450111	17922892	41206091	280	22163											
ARRDC2	27106	genome.wustl.edu	37	chr19	18119312	18119312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaccgagtcgcgcagcGcgggctcgagcacggcttac	7	5	15	14	7	0	0	0	0	0	0	2	3	0	1	1	3	3	4	1	3	1	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:18119312G>A	ENST00000222250.4	+	1	336	c.193G>A	c.(193-195)Gcg>Acg	p.A65T	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Intron	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	65					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GTCGCGCAGCGCGGGCTCGAG	0.731																																																	0													7	9	8					19																	18119312		2056	4088	6144	SO:0001583	missense	0				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.193G>A	19.37:g.18119312G>A	ENSP00000222250:p.Ala65Thr		B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.A65T	ENST00000222250.4	37	c.193	CCDS12370.1	19	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654078	0.67472	.	.	ENSG00000105643	ENST00000222250	T	0.14022	2.54	3.67	-4.51	0.03483	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.315835	0.32852	N	0.005564	T	0.06600	0.0169	L	0.28274	0.84	0.50313	D	0.999861	B	0.13594	0.008	B	0.17979	0.02	T	0.15694	-1.0428	10	0.48119	T	0.1	-7.8288	3.6513	0.08205	0.3337:0.0:0.4001:0.2662	.	65	Q8TBH0	ARRD2_HUMAN	T	65	ENSP00000222250:A65T	ENSP00000222250:A65T	A	+	1	0	ARRDC2	17980312	0.994000	0.37717	0.353000	0.25747	0.998000	0.95712	1.072000	0.30678	-0.938000	0.03714	0.561000	0.74099	GCG	ARRDC2	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000105643		0.731	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC2	HGNC	protein_coding	OTTHUMT00000466845.1	-	0	44	0	G	NM_015683		18119312	1	tier1	-	no_errors	ENST00000222250	ensembl	human	known	74_37	missense	47.37	20	18	SNP	1.000	A	A	18119312	G	A	18119312	3	1	83	1	0	0	0	0	1	0	0	0	984	1087	38	1	458	1	ARRDC2	19	18119312	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	196420	18119312	41009671	281	22164											
HAPLN4	404037	genome.wustl.edu	37	chr19	19369550	19369550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgtcgcgccaggccGcgtgcagctgttctgcagat	5	7	14	15	5	1	1	0	0	1	1	2	1	1	1	4	2	3	4	4	2	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:19369550G>A	ENST00000291481.7	-	4	662	c.599C>T	c.(598-600)gCg>gTg	p.A200V	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	200	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCGCCAGGCCGCGTGCAGCTG	0.716																																																	0													11	11	11					19																	19369550		2188	4273	6461	SO:0001583	missense	0			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.599C>T	19.37:g.19369550G>A	ENSP00000291481:p.Ala200Val		A5PKW5|Q96PW2	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.A200V	ENST00000291481.7	37	c.599	CCDS12398.1	19	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918679	0.73098	.	.	ENSG00000187664	ENST00000291481	T	0.12774	2.65	3.97	3.97	0.46021	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.230090	0.35124	N	0.003434	T	0.20740	0.0499	M	0.78801	2.425	0.29950	N	0.820341	P	0.49783	0.928	P	0.45998	0.5	T	0.12344	-1.0551	10	0.45353	T	0.12	-16.2039	9.0847	0.36574	0.0:0.0:0.6599:0.3401	.	200	Q86UW8	HPLN4_HUMAN	V	200	ENSP00000291481:A200V	ENSP00000291481:A200V	A	-	2	0	HAPLN4	19230550	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	2.579000	0.46059	2.055000	0.61198	0.313000	0.20887	GCG	HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000187664		0.716	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	-	0	70	0	G	NM_023002		19369550	-1	tier1	-	no_errors	ENST00000291481	ensembl	human	known	74_37	missense	30.77	45	20	SNP	1.000	A	A	19369550	G	A	19369550	3	1	83	1	0	0	0	0	1	0	0	0	6984	1087	38	1	617	1	HAPLN4	19	19369550	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	1250238	19369550	39759433	282	22165											
ZNF536	9745	genome.wustl.edu	37	chr19	30936105	30936105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaagagcatccgctgcagCgcaaccacgaagacactttg	13	6	9	13	3	0	2	0	0	0	2	1	3	1	2	2	0	4	4	2	0	4	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:30936105C>T	ENST00000355537.3	+	2	1783	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	546					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R546G(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCGCTGCAGCGCAACCACGA	0.562																																																	2	Substitution - Missense(2)	lung(2)											75	81	79					19																	30936105		2203	4300	6503	SO:0001583	missense	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1636C>T	19.37:g.30936105C>T	ENSP00000347730:p.Arg546Cys		A2RU18	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R546C	ENST00000355537.3	37	c.1636	CCDS32984.1	19	.	.	.	.	.	.	.	.	.	.	C	9.722	1.159984	0.21454	.	.	ENSG00000198597	ENST00000355537	T	0.47177	0.85	5.53	4.48	0.54585	.	0.296137	0.38837	N	0.001546	T	0.37183	0.0994	L	0.36672	1.1	0.51482	D	0.999928	B;B	0.30851	0.297;0.297	B;B	0.17098	0.017;0.017	T	0.16958	-1.0385	10	0.42905	T	0.14	-34.643	15.5642	0.76277	0.1391:0.8609:0.0:0.0	.	546;546	A7E228;O15090	.;ZN536_HUMAN	C	546	ENSP00000347730:R546C	ENSP00000347730:R546C	R	+	1	0	ZNF536	35627945	1.000000	0.71417	0.987000	0.45799	0.201000	0.24016	6.061000	0.71148	1.278000	0.44430	0.655000	0.94253	CGC	ZNF536	-	NULL	ENSG00000198597		0.562	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2		0	44	0	C	NM_014717		30936105	1			no_errors	ENST00000355537	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	30936105	C	T	30936105	3	4	83	1	0	0	0	0	1	0	0	0	18022	768	27	1	1638	1	ZNF536	19	30936105	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	11566555	30936105	28192878	283	22166											
LRP3	4037	genome.wustl.edu	37	chr19	33696342	33696342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcccatgcagcggggcGcgctccacgcgctgcctgcc	4	6	12	19	5	0	0	0	0	0	0	2	0	2	0	5	2	4	3	5	2	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:33696342G>A	ENST00000253193.7	+	5	868	c.666G>A	c.(664-666)gcG>gcA	p.A222A	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	222	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGCGGGGCGCGCTCCACGC	0.741																																																	0													8	10	9					19																	33696342		2148	4211	6359	SO:0001819	synonymous_variant	0			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"Low density lipoprotein receptors"	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.666G>A	19.37:g.33696342G>A			B3KQD6|B4DKF2	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.A222	ENST00000253193.7	37	c.666	CCDS12430.1	19																																																																																			LRP3	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000130881		0.741	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP3	HGNC	protein_coding	OTTHUMT00000450842.4	-	0	16	0	G			33696342	1	tier1	-	no_errors	ENST00000253193	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.384	A	A	33696342	G	A	33696342	2	1	83	1	0	0	0	0	0	0	0	1	8993	1074	38	1		1	LRP3	19	33696342	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	2760237	33696342	25432641	284	22167											
TSEN34	79042	genome.wustl.edu	37	chr19	54695405	54695405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggctcttggccgagatcGgcgccgtgactctggtcagc	4	8	15	14	6	3	2	1	1	2	1	4	3	3	2	2	4	1	1	2	4	0	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr19:54695405G>C	ENST00000396383.1	+	2	501	c.190G>C	c.(190-192)Ggc>Cgc	p.G64R	MBOAT7_ENST00000474910.1_5'Flank|TSEN34_ENST00000396388.2_Missense_Mutation_p.G64R|TSEN34_ENST00000429671.2_Missense_Mutation_p.G64R|MBOAT7_ENST00000338624.6_5'Flank|CTD-3093M3.1_ENST00000594382.1_lincRNA|TSEN34_ENST00000302937.4_Missense_Mutation_p.G64R|MBOAT7_ENST00000245615.1_5'Flank|MBOAT7_ENST00000391754.1_5'Flank|MBOAT7_ENST00000431666.2_5'Flank			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	64					mRNA processing (GO:0006397)|tRNA-type intron splice site recognition and cleavage (GO:0000379)	tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCCGAGATCGGCGCCGTGAC	0.741																																					Esophageal Squamous(37;841 964 4869 42824)												0													12	13	13					19																	54695405		1757	3873	5630	SO:0001583	missense	0			AF211970	CCDS42609.1, CCDS74446.1	19q13.4	2013-08-06	2013-08-06	2005-03-12	ENSG00000170892	ENSG00000170892		"tRNA splicing endonuclease subunits"	15506	protein-coding gene	gene with protein product		608754	"leukocyte receptor cluster (LRC) member 5", "tRNA splicing endonuclease 34 homolog (SEN34, S. cerevisiae)", "tRNA splicing endonuclease 34 homolog (S. cerevisiae)"	LENG5		10941842, 15109492	Standard	NM_024075		Approved	SEN34, SEN34L	uc002qdw.3	Q9BSV6	OTTHUMG00000066515	ENST00000396383.1:c.190G>C	19.37:g.54695405G>C	ENSP00000379667:p.Gly64Arg		A6NNB1|B0V3J1|Q9BVT1|Q9H6H5	Missense_Mutation	SNP	pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic	p.G64R	ENST00000396383.1	37	c.190	CCDS42609.1	19	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325711	0.60743	.	.	ENSG00000170892	ENST00000455798;ENST00000456872;ENST00000302937;ENST00000429671;ENST00000396383;ENST00000396388	T;T;T;T;T;T	0.70631	-0.5;-0.48;-0.42;-0.46;-0.42;-0.42	4.06	4.06	0.47325	.	0.201078	0.32608	N	0.005879	T	0.78553	0.4301	M	0.80982	2.52	0.42193	D	0.991735	D;D	0.58620	0.983;0.983	P;P	0.50896	0.579;0.653	D	0.83734	0.0200	10	0.66056	D	0.02	.	15.3594	0.74460	0.0:0.0:1.0:0.0	.	64;64	E7EQB3;Q9BSV6	.;SEN34_HUMAN	R	64;67;64;64;64;64	ENSP00000400743:G64R;ENSP00000408689:G67R;ENSP00000305524:G64R;ENSP00000397402:G64R;ENSP00000379667:G64R;ENSP00000379671:G64R	ENSP00000305524:G64R	G	+	1	0	TSEN34	59387217	1.000000	0.71417	0.962000	0.40283	0.419000	0.31324	5.897000	0.69831	1.985000	0.57927	0.462000	0.41574	GGC	TSEN34	-	pirsf_tRNA_splic_SEN34	ENSG00000170892		0.741	TSEN34-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN34	HGNC	protein_coding	OTTHUMT00000142200.1	-	0	19	0	G	NM_024075		54695405	1	tier1	-	no_errors	ENST00000429671	ensembl	human	known	74_37	missense	52.17	11	12	SNP	0.996	C	C	54695405	G	C	54695405	3	2	83	1	0	0	0	0	1	0	0	0	16661	1116	39	5	192	5	TSEN34	19	54695405	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	20999063	54695405	4433578	285	22168											
PAK7	57144	genome.wustl.edu	37	chr20	9561175	9561175	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttgctcagtgagtccaAatgtgagtgataatcggcag	10	12	13	6	1	1	3	1	3	0	0	3	3	2	3	1	2	1	3	1	2	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr20:9561175A>C	ENST00000378429.3	-	5	1153	c.607T>G	c.(607-609)Ttg>Gtg	p.L203V	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Missense_Mutation_p.L203V|PAK7_ENST00000353224.5_Missense_Mutation_p.L203V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	203	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGTGAGTCCAAATGTGAGTGA	0.463																																																	0													98	95	96					20																	9561175		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.607T>G	20.37:g.9561175A>C	ENSP00000367686:p.Leu203Val		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.L203V	ENST00000378429.3	37	c.607	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	A	3.520	-0.097870	0.07010	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.31510	1.49;1.49;1.49	5.55	-1.19	0.09585	.	0.271361	0.36665	N	0.002466	T	0.12902	0.0313	N	0.21448	0.665	0.38205	D	0.940295	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.12811	-1.0533	9	.	.	.	.	1.0728	0.01625	0.2466:0.2298:0.3284:0.1952	.	203;203	B0AZM9;Q9P286	.;PAK7_HUMAN	V	203;203;203;151	ENSP00000367686:L203V;ENSP00000322957:L203V;ENSP00000367679:L203V	.	L	-	1	2	PAK7	9509175	0.351000	0.24887	0.271000	0.24616	0.192000	0.23643	0.013000	0.13310	-0.124000	0.11724	-0.404000	0.06349	TTG	PAK7	-	NULL	ENSG00000101349		0.463	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	-	0	48	0	A			9561175	-1	tier1	-	no_errors	ENST00000353224	ensembl	human	known	74_37	missense	36.96	28	17	SNP	0.972	C	C	9561175	A	C	9561175	3	2	83	1	0	0	0	0	1	0	0	0	11444	11	1	4	1580	4	PAK7	20	9561175	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09		9561175	53464345	286	22169											
DNMT3B	1789	genome.wustl.edu	37	chr20	31394058	31394058	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaagtcgaactcgatcaAacaggggaaaaaccaacttt	17	6	7	11	2	1	0	1	0	0	0	3	3	1	1	2	2	4	0	2	2	6	1	rs564957434		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr20:31394058A>T	ENST00000328111.2	+	22	2666	c.2345A>T	c.(2344-2346)aAa>aTa	p.K782I	DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.K774I|DNMT3B_ENST00000353855.2_Missense_Mutation_p.K762I|DNMT3B_ENST00000344505.4_Intron|DNMT3B_ENST00000348286.2_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	782	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTCGATCAAACAGGGGAAA	0.458																																																	0													116	97	104					20																	31394058		2203	4300	6503	SO:0001583	missense	0				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2345A>T	20.37:g.31394058A>T	ENSP00000328547:p.Lys782Ile		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.K782I	ENST00000328111.2	37	c.2345	CCDS13205.1	20	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248144	0.80024	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000201963	D;D;D	0.96830	-4.14;-4.14;-4.14	5.47	0.635	0.17723	.	0.248603	0.45867	D	0.000324	D	0.95758	0.8620	M	0.77616	2.38	0.80722	D	1	P;P;B	0.43909	0.821;0.558;0.198	P;P;B	0.49192	0.602;0.602;0.132	D	0.93375	0.6738	10	0.66056	D	0.02	-9.6434	6.9576	0.24580	0.539:0.0:0.461:0.0	.	774;762;782	Q9UBC3-6;Q9UBC3-2;Q9UBC3	.;.;DNM3B_HUMAN	I	782;762;774	ENSP00000328547:K782I;ENSP00000313397:K762I;ENSP00000201963:K774I	ENSP00000201963:K774I	K	+	2	0	DNMT3B	30857719	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.387000	0.34430	0.336000	0.23639	-0.248000	0.11899	AAA	DNMT3B	-	NULL	ENSG00000088305		0.458	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	HGNC	protein_coding	OTTHUMT00000078643.2	-	0	66	0	A	NM_006892		31394058	1	tier1	-	no_errors	ENST00000328111	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	T	T	31394058	A	T	31394058	3	4	83	1	0	0	0	0	1	0	0	0	4691	14	1	5	2467	5	DNMT3B	20	31394058	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	21832883	31394058	31631462	287	22170											
EPB41L1	2036	genome.wustl.edu	37	chr20	34776333	34776333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcatctaccgggaccGgctgagaatcaaccgctttg	8	9	10	14	3	3	1	2	1	1	1	3	3	3	2	4	2	3	3	4	2	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr20:34776333G>T	ENST00000338074.2	+	9	1099	c.938G>T	c.(937-939)cGg>cTg	p.R313L	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R282L|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R216L|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R313L|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R251L|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R251L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	313	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TACCGGGACCGGCTGAGAATC	0.552																																																	0													119	109	112					20																	34776333		2203	4300	6503	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.938G>T	20.37:g.34776333G>T	ENSP00000337168:p.Arg313Leu		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R313L	ENST00000338074.2	37	c.938	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.610363	0.96637	.	.	ENSG00000088367	ENST00000202028;ENST00000430276;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;T;D;D;D;D;D	0.87103	-2.21;-1.23;-2.21;-2.21;-2.21;-2.21;-2.21	5.75	5.75	0.90469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.91449	0.7301	L	0.42245	1.32	0.80722	D	1	P;D;P;D;D;P	0.89917	0.809;1.0;0.874;1.0;0.997;0.635	P;D;B;D;D;B	0.87578	0.555;0.996;0.327;0.998;0.995;0.215	D	0.91919	0.5546	9	0.87932	D	0	.	18.5116	0.90918	0.0:0.0:1.0:0.0	.	313;313;282;216;216;251	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	L	251;251;216;313;216;251;282;313;313	ENSP00000202028:R251L;ENSP00000404341:R251L;ENSP00000363061:R216L;ENSP00000399214:R251L;ENSP00000363057:R282L;ENSP00000337168:R313L;ENSP00000363052:R313L	ENSP00000202028:R251L	R	+	2	0	EPB41L1	34239747	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.062000	0.89475	2.721000	0.93114	0.561000	0.74099	CGG	EPB41L1	-	pfam_FERM_PH-like_C,pirsf_Band_41_protein,pfscan_FERM_domain	ENSG00000088367		0.552	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3		0	45	0	G	NM_012156		34776333	1			no_errors	ENST00000338074	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	34776333	G	T	34776333	3	4	83	1	0	0	0	0	1	0	0	0	5168	1116	39	2	968	2	EPB41L1	20	34776333	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3382275	34776333	28249187	288	22171											
MC3R	4159	genome.wustl.edu	37	chr20	54824726	54824726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaacccctactgcatctGctacactgcccacttcaaca	11	8	3	19	0	2	0	1	0	1	0	2	0	2	0	4	0	7	2	4	0	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr20:54824726G>A	ENST00000243911.2	+	1	939	c.827G>A	c.(826-828)tGc>tAc	p.C276Y		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	276					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TACTGCATCTGCTACACTGCC	0.567																																																	0													220	187	198					20																	54824726		2203	4300	6503	SO:0001583	missense	0				CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"GPCR / Class A : Melanocortin receptors"	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.827G>A	20.37:g.54824726G>A	ENSP00000243911:p.Cys276Tyr		Q4KN27|Q9H517	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.C276Y	ENST00000243911.2	37	c.827	CCDS13449.2	20	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077766	0.76528	.	.	ENSG00000124089	ENST00000243911	T	0.71698	-0.59	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86871	0.6037	M	0.90814	3.15	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	D	0.89868	0.4021	10	0.87932	D	0	.	18.1096	0.89530	0.0:0.0:1.0:0.0	.	313	P41968	MC3R_HUMAN	Y	276	ENSP00000243911:C276Y	ENSP00000243911:C276Y	C	+	2	0	MC3R	54258133	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.636000	0.83301	2.362000	0.80069	0.555000	0.69702	TGC	MC3R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt	ENSG00000124089		0.567	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	HGNC	protein_coding	OTTHUMT00000079786.2		0	67	0	G			54824726	1			no_errors	ENST00000243911	ensembl	human	known	74_37	missense	5.19	72	4	SNP	1.000	A	A	54824726	G	A	54824726	3	1	83	1	0	0	0	0	1	0	0	0	9403	1319	46	3	829	3	MC3R	20	54824726	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	20048393	54824726	8200794	289	22172											
CLDN17	26285	genome.wustl.edu	37	chr21	31538814	31538814	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagagcctctcaaagacaAtaatgttgctgccaacaaaa	16	7	6	12	0	1	2	1	0	1	2	2	2	1	2	3	0	4	2	3	0	6	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr21:31538814A>C	ENST00000286808.3	-	1	157	c.122T>G	c.(121-123)aTt>aGt	p.I41S		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	41					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTCAAAGACAATAATGTTGCT	0.527																																																	0													67	72	70					21																	31538814		2203	4300	6503	SO:0001583	missense	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.122T>G	21.37:g.31538814A>C	ENSP00000286808:p.Ile41Ser		Q3MJB5|Q6UY37	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.I41S	ENST00000286808.3	37	c.122	CCDS13586.1	21	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470897	0.84533	.	.	ENSG00000156282	ENST00000286808	T	0.62364	0.03	5.22	5.22	0.72569	.	0.183165	0.48767	D	0.000179	T	0.79902	0.4526	M	0.83012	2.62	0.58432	D	0.999992	D	0.61080	0.989	D	0.69654	0.965	T	0.83259	-0.0049	10	0.87932	D	0	.	15.2382	0.73447	1.0:0.0:0.0:0.0	.	41	P56750	CLD17_HUMAN	S	41	ENSP00000286808:I41S	ENSP00000286808:I41S	I	-	2	0	CLDN17	30460685	0.984000	0.35163	0.999000	0.59377	0.998000	0.95712	9.038000	0.93771	2.326000	0.78906	0.533000	0.62120	ATT	CLDN17	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000156282		0.527	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	-	0	39	0	A	NM_012131		31538814	-1	tier1	-	no_errors	ENST00000286808	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	C	C	31538814	A	C	31538814	3	2	83	1	0	0	0	0	1	0	0	0	3485	101	4	4	556	4	CLDN17	21	31538814	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09		31538814	16591081	290	22173											
KCNJ15	3772	genome.wustl.edu	37	chr21	39671472	39671472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttattcatggggacttagaaCccggtgagcccatttcaaat	11	12	9	9	1	2	2	2	1	0	1	2	3	2	3	2	3	2	0	2	3	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr21:39671472C>T	ENST00000328656.4	+	4	592	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	KCNJ15_ENST00000398934.1_Missense_Mutation_p.P97S|KCNJ15_ENST00000398930.1_Missense_Mutation_p.P97S|KCNJ15_ENST00000398932.1_Missense_Mutation_p.P97S|KCNJ15_ENST00000398938.2_Missense_Mutation_p.P97S	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	97					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	GGACTTAGAACCCGGTGAGCC	0.483																																																	0													122	120	121					21																	39671472		2203	4300	6503	SO:0001583	missense	0			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.289C>T	21.37:g.39671472C>T	ENSP00000331698:p.Pro97Ser		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1	p.P97S	ENST00000328656.4	37	c.289	CCDS13656.1	21	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.335731	0.01287	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	5.13	2.26	0.28386	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.780249	0.10635	U	0.651663	D	0.86243	0.5886	L	0.34521	1.04	0.09310	N	1	B	0.20261	0.043	B	0.21360	0.034	T	0.71879	-0.4459	9	.	.	.	.	1.901	0.03267	0.2885:0.4272:0.1264:0.1579	.	97	Q99712	IRK15_HUMAN	S	97	ENSP00000331698:P97S;ENSP00000381902:P97S;ENSP00000381911:P97S;ENSP00000381905:P97S;ENSP00000414487:P97S;ENSP00000381904:P97S;ENSP00000381907:P97S;ENSP00000381901:P97S;ENSP00000400849:P97S	.	P	+	1	0	KCNJ15	38593342	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.207000	0.17395	0.254000	0.21573	-0.140000	0.14226	CCC	KCNJ15	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000157551		0.483	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ15	HGNC	protein_coding	OTTHUMT00000207181.2	-	0	91	0	C	NM_002243		39671472	1	tier1	-	no_errors	ENST00000328656	ensembl	human	known	74_37	missense	29.73	52	22	SNP	0.001	T	T	39671472	C	T	39671472	3	4	83	1	0	0	0	0	1	0	0	0	8076	507	18	3	291	3	KCNJ15	21	39671472	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	8132658	39671472	8458423	291	22174											
ZNF295	49854	genome.wustl.edu	37	chr21	43411988	43411988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccggcacagccgctcgtgGcttccttgctctaggagaga	6	10	12	13	3	1	1	0	0	1	1	4	3	3	2	3	3	2	4	3	3	1	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr21:43411988G>T	ENST00000310826.5	-	3	2400	c.2217C>A	c.(2215-2217)agC>agA	p.S739R	ZBTB21_ENST00000398511.3_Missense_Mutation_p.S739R|ZBTB21_ENST00000398505.3_Missense_Mutation_p.S538R|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398499.1_Missense_Mutation_p.S739R	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	739					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCCGCTCGTGGCTTCCTTGCT	0.537																																																	0													142	164	157					21																	43411988		2203	4300	6503	SO:0001583	missense	0			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	13083	protein-coding gene	gene with protein product			"zinc finger protein 295"	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2217C>A	21.37:g.43411988G>T	ENSP00000308759:p.Ser739Arg		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S739R	ENST00000310826.5	37	c.2217	CCDS13678.1	21	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849525	0.32699	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.06768	3.44;3.26;3.26;3.26	5.6	3.76	0.43208	Zinc finger, C2H2-like (1);	0.423865	0.24256	N	0.040137	T	0.04227	0.0117	N	0.08118	0	0.39213	D	0.963363	B;B	0.25772	0.127;0.134	B;B	0.26969	0.071;0.075	T	0.46830	-0.9163	10	0.21014	T	0.42	-8.9108	8.7761	0.34762	0.1577:0.1225:0.7198:0.0	.	538;739	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	R	538;739;739;739	ENSP00000381517:S538R;ENSP00000308759:S739R;ENSP00000381512:S739R;ENSP00000381523:S739R	ENSP00000308759:S739R	S	-	3	2	ZNF295	42285057	1.000000	0.71417	0.879000	0.34478	0.990000	0.78478	2.642000	0.46596	1.360000	0.45960	0.551000	0.68910	AGC	ZBTB21	-	smart_Znf_C2H2-like	ENSG00000173276		0.537	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB21	HGNC	protein_coding	OTTHUMT00000195308.1	-	0	49	0	G	NM_020727		43411988	-1	tier1	-	no_errors	ENST00000310826	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.994	T	T	43411988	G	T	43411988	3	4	83	1	0	0	0	0	1	0	0	0	17875	1194	42	3	987	3	ZNF295	21	43411988	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3740516	43411988	4717907	292	22175											
TMPRSS3	64699	genome.wustl.edu	37	chr21	43809063	43809063	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtactcgtcctccccgtcTttgcaatccgagactccgtc	5	11	8	17	5	1	1	0	0	1	1	7	2	5	1	5	1	2	2	5	1	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr21:43809063T>C	ENST00000291532.3	-	4	1252	c.297A>G	c.(295-297)aaA>aaG	p.K99K	TMPRSS3_ENST00000380399.1_Silent_p.K183K|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.K99K|TMPRSS3_ENST00000398397.3_Silent_p.K99K|TMPRSS3_ENST00000398405.1_Silent_p.K97K	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	99	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCTCCCCGTCTTTGCAATCCG	0.527																																																	0													99	84	89					21																	43809063		2203	4300	6503	SO:0001819	synonymous_variant	0			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"Serine peptidases / Transmembrane"	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.297A>G	21.37:g.43809063T>C			D3DSJ6|Q5USC7|Q6ZMC3	Silent	SNP	pfam_Peptidase_S1,pfam_SRCR,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.K183	ENST00000291532.3	37	c.549	CCDS13686.1	21																																																																																			TMPRSS3	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000160183		0.527	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	HGNC	protein_coding	OTTHUMT00000195347.1	-	0	40	0	T			43809063	-1	tier1	-	no_errors	ENST00000380399	ensembl	human	known	74_37	silent	11.90	74	10	SNP	0.186	C	C	43809063	T	C	43809063	2	2	83	1	0	0	0	0	0	0	0	1	16295	1606	56	4		4	TMPRSS3	21	43809063	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	397075	43809063	4320832	293	22176											
COL6A1	1291	genome.wustl.edu	37	chr21	47421259	47421259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgccaaggacttcgtcGtcaaggtcatcgaccggctg	9	9	12	11	4	2	1	2	0	0	1	5	3	2	2	2	3	1	1	2	3	2	2	rs564072783		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr21:47421259G>A	ENST00000361866.3	+	30	2029	c.1915G>A	c.(1915-1917)Gtc>Atc	p.V639I	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	639	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GGACTTCGTCGTCAAGGTCAT	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		14670	0		0	False		,,,				2504	0																0													119	120	120					21																	47421259		2203	4300	6503	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1915G>A	21.37:g.47421259G>A	ENSP00000355180:p.Val639Ile		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V639I	ENST00000361866.3	37	c.1915	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	0.757	-0.770651	0.02974	.	.	ENSG00000142156	ENST00000361866	D	0.83419	-1.72	5.2	-3.88	0.04205	von Willebrand factor, type A (3);	0.321647	0.26761	N	0.022622	T	0.55784	0.1942	N	0.03253	-0.375	0.22620	N	0.998922	B	0.06786	0.001	B	0.08055	0.003	T	0.50841	-0.8780	10	0.02654	T	1	-10.5816	14.5625	0.68151	0.8389:0.0:0.1611:0.0	.	639	P12109	CO6A1_HUMAN	I	639	ENSP00000355180:V639I	ENSP00000355180:V639I	V	+	1	0	COL6A1	46245687	0.647000	0.27304	0.584000	0.28653	0.207000	0.24258	0.319000	0.19522	-0.717000	0.04955	-0.513000	0.04457	GTC	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.647	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	67	0	G	NM_001848		47421259	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.951	A	A	47421259	G	A	47421259	3	1	83	1	0	0	0	0	1	0	0	0	3706	1145	40	1	2033	1	COL6A1	21	47421259	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	3612196	47421259	708636	294	22177											
DEPDC5	9681	genome.wustl.edu	37	chr22	32215145	32215145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcactgattaaccccttcGctccctctcggatgcccatg	7	10	8	16	2	1	1	0	1	1	0	4	3	2	2	4	1	3	2	4	1	1	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr22:32215145G>A	ENST00000382112.3	+	21	1874	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	DEPDC5_ENST00000266091.3_Missense_Mutation_p.A602T|DEPDC5_ENST00000536766.1_Missense_Mutation_p.A574T|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A602T|DEPDC5_ENST00000400249.2_Missense_Mutation_p.A602T|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A602T|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A602T|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A602T|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A602T	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	602					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAACCCCTTCGCTCCCTCTCG	0.542																																																	0													140	141	141					22																	32215145		2064	4211	6275	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1804G>A	22.37:g.32215145G>A	ENSP00000371546:p.Ala602Thr		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.A602T	ENST00000382112.3	37	c.1804	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914750	0.33815	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T	0.30714	1.55;1.52;1.94;1.91;1.94;1.53;1.92;1.94;1.91	5.68	5.68	0.88126	.	0.053756	0.85682	D	0.000000	T	0.18173	0.0436	L	0.27053	0.805	0.80722	D	1	B;P;P;B;B;B	0.44429	0.139;0.725;0.835;0.179;0.032;0.112	B;B;B;B;B;B	0.26770	0.014;0.073;0.073;0.024;0.008;0.01	T	0.08472	-1.0720	10	0.15499	T	0.54	.	18.7742	0.91904	0.0:0.0:1.0:0.0	.	602;574;602;602;602;602	B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	T	602;574;602;602;602;602;602;602;602;602	ENSP00000440210:A602T;ENSP00000441358:A574T;ENSP00000266091:A602T;ENSP00000383108:A602T;ENSP00000383105:A602T;ENSP00000371539:A602T;ENSP00000371546:A602T;ENSP00000371545:A602T;ENSP00000383107:A602T	ENSP00000266091:A602T	A	+	1	0	DEPDC5	30545145	1.000000	0.71417	0.989000	0.46669	0.789000	0.44602	7.623000	0.83113	2.676000	0.91093	0.563000	0.77884	GCT	DEPDC5	-	NULL	ENSG00000100150		0.542	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1		0	31	0	G	NM_014662		32215145	1			no_errors	ENST00000266091	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	32215145	G	A	32215145	3	1	83	1	0	0	0	0	1	0	0	0	4456	1087	38	1	1904	1	DEPDC5	22	32215145	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09		32215145	19089421	295	22178											
ISX	91464	genome.wustl.edu	37	chr22	35463110	35463110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgggccctgctctctgCaggggtatggagagaaatag	9	8	17	7	0	1	1	0	0	1	1	2	4	1	2	1	5	2	3	1	5	3	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr22:35463110C>G	ENST00000308700.6	+	1	982	c.30C>G	c.(28-30)tgC>tgG	p.C10W	RP1-272J12.1_ENST00000448318.4_RNA|ISX_ENST00000404699.2_Missense_Mutation_p.C10W	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	10					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of vitamin A metabolic process (GO:1901738)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						CTGCTCTCTGCAGGGGTATGG	0.602																																																	0													40	41	41					22																	35463110		2203	4300	6503	SO:0001583	missense	0			AK025181	CCDS33640.1	22q12.3	2011-06-20			ENSG00000175329	ENSG00000175329		"Homeoboxes / PRD class"	28084	protein-coding gene	gene with protein product		612019					Standard	NM_001008494		Approved	RAXLX	uc003anj.3	Q2M1V0	OTTHUMG00000150962	ENST00000308700.6:c.30C>G	22.37:g.35463110C>G	ENSP00000311492:p.Cys10Trp		Q68DJ5	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.C10W	ENST00000308700.6	37	c.30	CCDS33640.1	22	.	.	.	.	.	.	.	.	.	.	C	8.339	0.828193	0.16749	.	.	ENSG00000175329	ENST00000308700;ENST00000404699	D;D	0.89415	-2.51;-2.51	4.75	-1.45	0.08828	.	1.359010	0.04927	N	0.456047	T	0.78591	0.4307	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63778	-0.6560	10	0.44086	T	0.13	.	6.3759	0.21507	0.0:0.386:0.4406:0.1734	.	10	Q2M1V0	ISX_HUMAN	W	10	ENSP00000311492:C10W;ENSP00000386037:C10W	ENSP00000311492:C10W	C	+	3	2	ISX	33793110	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.408000	0.07169	-0.285000	0.09089	0.655000	0.94253	TGC	ISX	-	NULL	ENSG00000175329		0.602	ISX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISX	HGNC	protein_coding	OTTHUMT00000320662.1	-	0	61	0	C	NM_001008494		35463110	1	tier1	-	no_errors	ENST00000308700	ensembl	human	known	74_37	missense	65.79	13	25	SNP	0.000	G	G	35463110	C	G	35463110	3	3	83	1	0	0	0	0	1	0	0	0	7892	718	25	5	32	5	ISX	22	35463110	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	3247965	35463110	15841456	296	22179											
ST13	6767	genome.wustl.edu	37	chr22	41223099	41223099	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtttttcttccaagtcttaCctgcatggctgcaagaacct	9	14	7	11	0	2	1	0	0	2	1	3	1	3	1	3	1	4	4	3	1	4	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr22:41223099C>G	ENST00000216218.3	-	11	1463		c.e11+1			NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)						chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CCAAGTCTTACCTGCATGGCT	0.423																																																	0													86	88	87					22																	41223099		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"Tetratricopeptide (TTC) repeat domain containing"	11343	protein-coding gene	gene with protein product	"progesterone receptor-associated p48 protein"	606796	"suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.981+1G>C	22.37:g.41223099C>G			O14999|Q2TU77	Splice_Site	SNP	-	e11+1	ENST00000216218.3	37	c.981+1	CCDS14006.1	22	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335802	0.81801	.	.	ENSG00000100380	ENST00000216218	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2991	0.94136	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ST13	39553045	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.740000	0.68629	2.573000	0.86826	0.555000	0.69702	.	ST13	-	-	ENSG00000100380		0.423	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST13	HGNC	protein_coding	OTTHUMT00000321759.1	-	0	120	0	C	NM_003932	Intron	41223099	-1	tier1	-	no_errors	ENST00000216218	ensembl	human	known	74_37	splice_site	61.40	22	35	SNP	1.000	G	G	41223099	C	G	41223099	5	3	83	1	0	0	0	0	0	0	1	0	15257	521	18	5	135	5	ST13	22	41223099	Splice_Site	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	5759989	41223099	10081467	297	22180											
ACO2	50	genome.wustl.edu	37	chr22	41865178	41865178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctacagcctactggtgactCggctgcaggtgagcgagctc	7	8	13	13	2	0	2	0	2	0	0	2	3	0	2	2	3	6	3	2	3	2	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr22:41865178C>G	ENST00000216254.4	+	1	50	c.28C>G	c.(28-30)Cgg>Ggg	p.R10G	PHF5A_ENST00000491254.1_5'Flank|PHF5A_ENST00000216252.3_5'Flank|ACO2_ENST00000396512.3_Missense_Mutation_p.R10G	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	10					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)	p.R10G(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ACTGGTGACTCGGCTGCAGGT	0.642																																																	1	Substitution - Missense(1)	breast(1)											79	80	80					22																	41865178		2203	4300	6503	SO:0001583	missense	0			AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"aconitate hydratase, mitochondrial"	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.28C>G	22.37:g.41865178C>G	ENSP00000216254:p.Arg10Gly		O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like	p.R10G	ENST00000216254.4	37	c.28	CCDS14017.1	22	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084609	0.76642	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.45668	0.9;0.89	5.35	5.35	0.76521	.	0.105835	0.64402	D	0.000004	T	0.49795	0.1578	M	0.77486	2.375	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.49485	-0.8935	10	0.59425	D	0.04	.	19.6142	0.95626	0.0:1.0:0.0:0.0	.	10;10	A2A274;Q99798	.;ACON_HUMAN	G	10	ENSP00000216254:R10G;ENSP00000379769:R10G	ENSP00000216254:R10G	R	+	1	2	ACO2	40195124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.949000	0.63596	2.941000	0.99782	0.655000	0.94253	CGG	ACO2	-	NULL	ENSG00000100412		0.642	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO2	HGNC	protein_coding	OTTHUMT00000259151.1	-	0	83	0	C	NM_001098		41865178	1	tier1	-	no_errors	ENST00000216254	ensembl	human	known	74_37	missense	52.86	33	37	SNP	1.000	G	G	41865178	C	G	41865178	3	3	83	1	0	0	0	0	1	0	0	0	147	875	31	5	30	5	ACO2	22	41865178	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	642079	41865178	9439388	298	22181											
MAPK11	5600	genome.wustl.edu	37	chr22	50705432	50705432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgcgtggccacatagcCggtcatctcctcgtccgcct	5	8	10	18	5	2	0	1	0	1	0	5	0	3	0	6	2	2	0	6	2	1	1	rs200417198		TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr22:50705432C>T	ENST00000330651.6	-	7	641	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	MAPK11_ENST00000495277.1_5'Flank|MAPK11_ENST00000449719.2_Missense_Mutation_p.G73S	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	GCCACATAGCCGGTCATCTCC	0.652																																					GBM(9;634 739 50668)												0													72	63	66					22																	50705432		2200	4298	6498	SO:0001583	missense	0			Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.541G>A	22.37:g.50705432C>T	ENSP00000333685:p.Gly181Ser		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38,prints_MAPK_JNK	p.G181S	ENST00000330651.6	37	c.541	CCDS14090.1	22	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247799	0.80024	.	.	ENSG00000185386	ENST00000330651;ENST00000449719	T;T	0.63417	-0.04;-0.04	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059629	0.64402	U	0.000003	T	0.66208	0.2766	N	0.13098	0.295	0.80722	D	1	D;P	0.89917	1.0;0.896	D;P	0.80764	0.994;0.512	T	0.73294	-0.4028	10	0.87932	D	0	-22.5789	17.0156	0.86418	0.0:1.0:0.0:0.0	.	73;181	B7Z630;Q15759	.;MK11_HUMAN	S	181;73	ENSP00000333685:G181S;ENSP00000406921:G73S	ENSP00000333685:G181S	G	-	1	0	MAPK11	49047559	0.998000	0.40836	0.881000	0.34555	0.059000	0.15707	4.654000	0.61469	2.332000	0.79248	0.537000	0.68136	GGC	MAPK11	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000185386		0.652	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK11	HGNC	protein_coding	OTTHUMT00000316900.1	-	0	43	0	C			50705432	-1	tier1	rs200417198	no_errors	ENST00000330651	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	T	T	50705432	C	T	50705432	3	4	83	1	0	0	0	0	1	0	0	0	9311	652	23	1	577	1	MAPK11	22	50705432	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	8840254	50705432	599134	299	22182											
SHANK3	85358	genome.wustl.edu	37	chr22	51135697	51135698	+	Frame_Shift_Ins	INS	-	-	G																															ggccctggacctggaggggtINSggggggggcgcccctccctc																										TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chr22:51135697_51135698insG	ENST00000262795.3	+	11	1331_1332	c.1331_1332insG	c.(1330-1335)gtggggfs	p.VG444fs	SHANK3_ENST00000445220.2_Intron|SHANK3_ENST00000414786.2_Intron	NM_033517.1	NP_277052.1	Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	435					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCTGGAGGGGTGGGGGGGGCGC	0.752																																																	0																																										SO:0001589	frameshift_variant	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14294	protein-coding gene	gene with protein product	"proline rich synapse associated protein 2", "shank postsynaptic density protein"	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000262795.3:c.1339dupG	22.37:g.51135705_51135705dupG	ENSP00000442518:p.Val444fs		D7UT47|Q8TET3	Frame_Shift_Ins	INS	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A447fs	ENST00000262795.3	37	c.1331_1332		22																																																																																			SHANK3	-	NULL	ENSG00000251322		0.752	SHANK3-201	KNOWN	basic|appris_candidate_longest	protein_coding	SHANK3	HGNC	protein_coding			0	15	0	0	NM_001080420		51135698	1			no_errors	ENST00000262795	ensembl	human	known	74_37	frame_shift_ins	33.33	4	2	INS	0.000:0.002	G	G	51135698	-	G	51135697	7	5	83	1	0	1	1	0	0	0	0	0	14311	1696	59	0	1373	0	SHANK3	22	51135697	Frame_Shift_Ins	INS	-	TCGA-L5-A8NI-01A-11D-A37C-09	430265	51135697	168869	300	22183											
SFRS17A	8227	genome.wustl.edu	37	chrX	1712780	1712780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgaacgagaccctgcCgggggagcggccggacacca	10	2	16	13	4	0	2	0	1	0	1	0	6	0	5	4	5	3	0	4	5	1	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:1712780C>T	ENST00000313871.3	+	2	621	c.425C>T	c.(424-426)cCg>cTg	p.P142L	AKAP17A_ENST00000381261.3_Missense_Mutation_p.P142L	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	142					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GAGACCCTGCCGGGGGAGCGG	0.667																																																	0													112	128	122					X																	1712780		2203	4296	6499	SO:0001583	missense	0			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.425C>T	X.37:g.1712780C>T	ENSP00000324827:p.Pro142Leu		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	NULL	p.P142L	ENST00000313871.3	37	c.425	CCDS14116.1	X	.	.	.	.	.	.	.	.	.	.	c	11.18	1.563294	0.27915	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.40225	1.04;1.04	1.86	0.923	0.19413	.	0.000000	0.64402	U	0.000001	T	0.56587	0.1995	.	.	.	0.29408	N	0.861453	D;P	0.89917	1.0;0.819	D;B	0.73380	0.98;0.404	T	0.53954	-0.8365	9	0.52906	T	0.07	-19.2788	8.4952	0.33123	0.0:0.8673:0.0:0.1327	.	142;142	Q02040-3;Q02040	.;AK17A_HUMAN	L	142	ENSP00000324827:P142L;ENSP00000370660:P142L	ENSP00000324827:P142L	P	+	2	0	AKAP17A	1672780	1.000000	0.71417	0.016000	0.15963	0.466000	0.32739	5.659000	0.68010	-0.115000	0.11915	0.100000	0.15512	CCG	AKAP17A	-	NULL	ENSG00000197976		0.667	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	HGNC	protein_coding	OTTHUMT00000055609.2	-	0	123	0	C	NM_005088		1712780	1	tier1	-	no_errors	ENST00000313871	ensembl	human	known	74_37	missense	71.43	35	90	SNP	1.000	T	T	1712780	C	T	1712780	3	4	83	1	0	0	0	0	1	0	0	0	14218	652	23	1	427	1	SFRS17A	23	1712780	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09		1712780	153557780	301	22184											
CNKSR2	22866	genome.wustl.edu	37	chrX	21624945	21624945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagatactccatcaacacCaaaacaagatagccctccac	17	5	4	15	0	1	2	1	0	0	2	3	2	3	2	4	0	5	1	4	0	6	2			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:21624945C>T	ENST00000379510.3	+	19	2129	c.2093C>T	c.(2092-2094)cCa>cTa	p.P698L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.P698L|CNKSR2_ENST00000425654.2_Missense_Mutation_p.P668L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.P649L	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	698					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCATCAACACCAAAACAAGAT	0.423																																																	0													304	197	233					X																	21624945		2203	4300	6503	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2093C>T	X.37:g.21624945C>T	ENSP00000368824:p.Pro698Leu		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P698L	ENST00000379510.3	37	c.2093	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817903	0.50633	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.18960	2.46;2.18;2.18;2.46	5.97	5.97	0.96955	.	0.210308	0.51477	D	0.000087	T	0.17746	0.0426	L	0.27053	0.805	0.80722	D	1	B;B;B;B	0.21225	0.002;0.001;0.053;0.004	B;B;B;B	0.15870	0.003;0.003;0.014;0.005	T	0.06679	-1.0813	10	0.20046	T	0.44	-11.3976	19.2739	0.94023	0.0:1.0:0.0:0.0	.	668;649;290;698	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	L	668;649;698;698	ENSP00000397906:P668L;ENSP00000444633:P649L;ENSP00000279451:P698L;ENSP00000368824:P698L	ENSP00000279451:P698L	P	+	2	0	CNKSR2	21534866	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.487000	0.81328	2.504000	0.84457	0.594000	0.82650	CCA	CNKSR2	-	NULL	ENSG00000149970		0.423	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	-	0	46	0	C	NM_014927		21624945	1	tier1	-	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	41.18	30	21	SNP	1.000	T	T	21624945	C	T	21624945	3	4	83	1	0	0	0	0	1	0	0	0	3614	594	21	3	2167	3	CNKSR2	23	21624945	Missense_Mutation	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	19912165	21624945	133645615	302	22185											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29973907	29973907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcctgccgctgttgccaagGgagaccagtatatccagtgt	9	10	11	11	1	0	1	0	0	0	1	2	2	2	1	5	1	2	3	5	1	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:29973907G>A	ENST00000378993.1	+	11	2734	c.2061G>A	c.(2059-2061)agG>agA	p.R687R	IL1RAPL1_ENST00000302196.4_Silent_p.R687R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	687					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGTTGCCAAGGGAGACCAGTA	0.537																																																	0													37	34	35					X																	29973907		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.2061G>A	X.37:g.29973907G>A			A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.R687	ENST00000378993.1	37	c.2061	CCDS14218.1	X																																																																																			IL1RAPL1	-	NULL	ENSG00000169306		0.537	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	-	0	21	0	G	NM_014271		29973907	1	tier1	-	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	29.63	19	8	SNP	1.000	A	A	29973907	G	A	29973907	2	1	83	1	0	0	0	0	0	0	0	1	7688	1223	43	3		3	IL1RAPL1	23	29973907	Silent	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	8348962	29973907	125296653	303	22186											
KDM6A	7403	genome.wustl.edu	37	chrX	44922979	44922979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttacctgcagcgaaacGcactcactctacctcataac	11	9	5	16	2	3	0	2	0	1	0	3	1	3	0	3	0	7	2	3	0	4	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:44922979G>A	ENST00000377967.4	+	16	1881	c.1840G>A	c.(1840-1842)Gca>Aca	p.A614T	KDM6A_ENST00000382899.4_Missense_Mutation_p.A621T|KDM6A_ENST00000536777.1_Missense_Mutation_p.A569T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A535T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	614	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCGAAACGCACTCACTCT	0.468			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)											70	54	60					X																	44922979		2203	4300	6503	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1840G>A	X.37:g.44922979G>A	ENSP00000367203:p.Ala614Thr		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A621T	ENST00000377967.4	37	c.1861	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.304844|2.304844	0.40795|0.40795	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.18960|.	2.19;2.21;2.21;2.18|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	0.056013|.	0.64402|.	D|.	0.000001|.	T|T	0.51736|0.51736	0.1692|0.1692	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	D;D;B;B;D;B|.	0.89917|.	0.999;1.0;0.011;0.0;0.999;0.007|.	D;D;B;B;D;B|.	0.79108|.	0.978;0.992;0.012;0.002;0.985;0.005|.	T|T	0.48031|0.48031	-0.9070|-0.9070	10|5	0.14252|.	T|.	0.57|.	-4.8156|-4.8156	18.2207|18.2207	0.89901|0.89901	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	253;621;569;666;580;614|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	T|H	311;614;569;621;535|211;256	ENSP00000367203:A614T;ENSP00000437405:A569T;ENSP00000372355:A621T;ENSP00000443078:A535T|.	ENSP00000334340:A311T|.	A|R	+|+	1|2	0|0	KDM6A|KDM6A	44807923|44807923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.292000|4.292000	0.59031|0.59031	2.327000|2.327000	0.79052|0.79052	0.513000|0.513000	0.50165|0.50165	GCA|CGC	KDM6A	-	NULL	ENSG00000147050		0.468	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	-	0	30	0	G	NM_021140		44922979	1	tier1	-	no_errors	ENST00000382899	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	44922979	G	A	44922979	3	1	83	1	0	0	0	0	1	0	0	0	8164	1087	38	1	1902	1	KDM6A	23	44922979	Missense_Mutation	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	14949072	44922979	110347581	304	22187											
RP2	6102	genome.wustl.edu	37	chrX	46713468	46713468	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagccaatagaagcatTgttccaatatcccggggtca	14	8	9	10	1	1	2	1	0	0	2	3	2	3	2	3	2	2	2	3	2	6	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:46713468T>A	ENST00000218340.3	+	2	821	c.660T>A	c.(658-660)atT>atA	p.I220I		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	220					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						ATAGAAGCATTGTTCCAATAT	0.438																																																	0													71	55	60					X																	46713468		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.660T>A	X.37:g.46713468T>A			Q86XJ7|Q9NU67	Silent	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.I220	ENST00000218340.3	37	c.660	CCDS14270.1	X																																																																																			RP2	-	pirsf_Protein_XRP2	ENSG00000102218		0.438	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	-	0	21	0	T	NM_006915		46713468	1	tier1	-	no_errors	ENST00000218340	ensembl	human	known	74_37	silent	29.03	22	9	SNP	0.419	A	A	46713468	T	A	46713468	2	1	83	1	0	0	0	0	0	0	0	1	13579	1800	63	5		5	RP2	23	46713468	Silent	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	1790489	46713468	108557092	305	22188											
CFP	5199	genome.wustl.edu	37	chrX	47485920	47485920	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccactccccatccacTgcagagacagggcaacaggg	11	4	11	15	0	0	1	0	0	0	1	3	3	3	1	4	2	2	2	4	2	1	0			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:47485920T>A	ENST00000396992.3	-	7	1061		c.e7-2		CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Splice_Site|CFP_ENST00000377005.2_Splice_Site	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin						complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCCCATCCACTGCAGAGACAG	0.587																																																	0													33	27	29					X																	47485920		2203	4298	6501	SO:0001630	splice_region_variant	0			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.941-2A>T	X.37:g.47485920T>A			O15134|O15135|O15136|O75826	Splice_Site	SNP	-	e7-2	ENST00000396992.3	37	c.941-2	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	T	7.740	0.700983	0.15172	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	.	.	.	5.24	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1488	0.25597	0.0:0.1088:0.0:0.8912	.	.	.	.	.	-1	.	.	.	-	.	.	CFP	47370864	1.000000	0.71417	0.997000	0.53966	0.281000	0.26958	3.310000	0.51911	1.859000	0.53934	0.381000	0.24937	.	CFP	-	-	ENSG00000126759		0.587	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	-	0	34	0	T	NM_002621	Intron	47485920	-1	tier1	-	no_errors	ENST00000247153	ensembl	human	known	74_37	splice_site	29.31	41	17	SNP	0.993	A	A	47485920	T	A	47485920	5	1	83	1	0	0	0	0	0	0	1	0	3300	1594	55	5	482	5	CFP	23	47485920	Splice_Site	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	772452	47485920	107784640	306	22189											
ERCC6L	54821	genome.wustl.edu	37	chrX	71427369	71427369	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacaagcccgtgcagacagCagcctaggatgatcacacag	14	4	10	13	1	1	2	1	1	0	1	1	3	1	3	2	1	5	2	2	1	3	1			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:71427369C>T	ENST00000334463.3	-	2	1383	c.1248G>A	c.(1246-1248)ctG>ctA	p.L416L	ERCC6L_ENST00000373657.1_Silent_p.L293L|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	416					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GTGCAGACAGCAGCCTAGGAT	0.458																																																	0													92	85	87					X																	71427369		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"PLK1-interacting checkpoint helicase"	300687	"excision repair cross-complementing rodent repair deficiency, complementation group 6-like"			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.1248G>A	X.37:g.71427369C>T			Q8NCI1|Q96H93|Q9NXQ8	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L416	ENST00000334463.3	37	c.1248	CCDS35329.1	X																																																																																			ERCC6L	-	superfamily_P-loop_NTPase	ENSG00000186871		0.458	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6L	HGNC	protein_coding	OTTHUMT00000057174.2		0	17	0	C	NM_017669		71427369	-1			no_errors	ENST00000334463	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.993	T	T	71427369	C	T	71427369	2	4	83	1	0	0	0	0	0	0	0	1	5234	697	25	3		3	ERCC6L	23	71427369	Silent	SNP	C	TCGA-L5-A8NI-01A-11D-A37C-09	23941449	71427369	83843191	307	22190											
PCDH11X	27328	genome.wustl.edu	37	chrX	91134272	91134272	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtacacaccagaccGgtaggtatccaagtttctaa	11	10	9	11	2	1	1	0	0	1	1	3	1	3	1	4	2	1	4	4	2	5	5	rs138111592	byFrequency	TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:91134272G>A	ENST00000373094.1	+	2	3878	c.3033G>A	c.(3031-3033)ccG>ccA	p.P1011P	PCDH11X_ENST00000395337.2_Splice_Site_p.P1011P|PCDH11X_ENST00000373097.1_Splice_Site_p.P1011P|PCDH11X_ENST00000361724.1_Silent_p.P1011P|PCDH11X_ENST00000504220.2_Splice_Site_p.P1011P|PCDH11X_ENST00000373088.1_Splice_Site_p.P1011P|PCDH11X_ENST00000298274.8_Splice_Site_p.P1011P|PCDH11X_ENST00000361655.2_Splice_Site_p.P1011P|PCDH11X_ENST00000406881.1_Splice_Site_p.P1011P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1011					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACACCAGACCGGTAGGTATCC	0.403													G|||	3	0.000794702	0.0023	0	3775	,	,		14242	0		0	False		,,,				2504	0				NSCLC(38;925 1092 2571 38200 45895)												0								G	,,,,,,,	8,3827		0,5,3,1627,568	107	92	97		3033,3033,3033,3033,3033,3033,3033,3033	4.3	1	X	dbSNP_134	97	0,6728		0,0,0,2428,1872	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	PCDH11X	NM_001168360.1,NM_001168361.1,NM_001168362.1,NM_001168363.1,NM_014522.1,NM_032967.2,NM_032968.3,NM_032969.3	,,,,,,,	0,5,3,4055,2440	AA,AG,A,GG,G		0.0,0.2086,0.0757	,,,,,,,	1011/1340,1011/1066,1011/1311,1011/1330,1011/1022,1011/1026,1011/1348,1011/1338	91134272	8,10555	2203	4300	6503	SO:0001630	splice_region_variant	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3033+1G>A	X.37:g.91134272G>A			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P1011	ENST00000373094.1	37	c.3033	CCDS14461.1	X																																																																																			PCDH11X	-	NULL	ENSG00000102290		0.403	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	55	0	G	NM_032969	Silent	91134272	1	tier1	rs138111592	no_errors	ENST00000373094	ensembl	human	known	74_37	silent	57.78	19	26	SNP	1.000	A	A	91134272	G	A	91134272	5	1	83	1	0	0	0	0	0	0	1	0	11547	1130	39	1	3039	1	PCDH11X	23	91134272	Splice_Site	SNP	G	TCGA-L5-A8NI-01A-11D-A37C-09	19706903	91134272	64136288	308	22191											
MAGEA10	4109	genome.wustl.edu	37	chrX	151303878	151303878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcagcagaaacctccTctggggtgcttggtattaga	10	11	10	10	0	3	2	2	0	1	2	4	2	4	2	2	3	3	3	2	3	3	3			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:151303878T>C	ENST00000370323.4	-	4	531	c.215A>G	c.(214-216)gAg>gGg	p.E72G	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E72G	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	72						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAACCTCCTCTGGGGTGCT	0.527																																																	0													106	109	108					X																	151303878		2203	4300	6503	SO:0001583	missense	0				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"MAGE-10 antigen", "melanoma-associated antigen 10", "cancer/testis antigen family 1, member 10"	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.215A>G	X.37:g.151303878T>C	ENSP00000359347:p.Glu72Gly			Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E72G	ENST00000370323.4	37	c.215	CCDS14705.1	X	.	.	.	.	.	.	.	.	.	.	T	4.632	0.117546	0.08881	.	.	ENSG00000124260	ENST00000370323;ENST00000244096;ENST00000444834;ENST00000427322	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	2.08	0.76	0.18442	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.07548	0.0190	L	0.46614	1.455	0.09310	N	1	B	0.21309	0.054	B	0.35278	0.199	T	0.43829	-0.9367	9	0.38643	T	0.18	.	3.8341	0.08886	0.0:0.2058:0.0:0.7942	.	72	P43363	MAGAA_HUMAN	G	72	ENSP00000359347:E72G;ENSP00000244096:E72G;ENSP00000406161:E72G;ENSP00000391977:E72G	ENSP00000244096:E72G	E	-	2	0	MAGEA10	151054534	0.009000	0.17119	0.009000	0.14445	0.057000	0.15508	0.937000	0.28951	0.129000	0.18514	0.238000	0.17879	GAG	MAGEA10	-	pfam_Melanoma_ass_antigen_N	ENSG00000124260		0.527	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGEA10	HGNC	protein_coding	OTTHUMT00000060916.3	-	0	21	0	T	NM_021048		151303878	-1	tier1	-	no_errors	ENST00000244096	ensembl	human	known	74_37	missense	58.33	10	14	SNP	0.008	C	C	151303878	T	C	151303878	3	2	83	1	0	0	0	0	1	0	0	0	9200	1551	54	4	898	4	MAGEA10	23	151303878	Missense_Mutation	SNP	T	TCGA-L5-A8NI-01A-11D-A37C-09	60169606	151303878	3966682	309	22192											
ATP6AP1	537	genome.wustl.edu	37	chrX	153660199	153660199	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattgaggatttcacagcAtatggcggtgtgtttggaaa	11	12	13	5	1	1	1	1	1	0	0	1	3	1	3	0	4	2	3	0	4	2	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrX:153660199A>G	ENST00000369762.2	+	3	373	c.312A>G	c.(310-312)gcA>gcG	p.A104A	ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	104					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATTTCACAGCATATGGCGGTG	0.552											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													268	230	243					X																	153660199		2203	4300	6503	SO:0001819	synonymous_variant	0			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.312A>G	X.37:g.153660199A>G		1757	A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	pfam_BIG/ATPase_V1_suS1	p.A104	ENST00000369762.2	37	c.312	CCDS35451.1	X																																																																																			ATP6AP1	-	pfam_BIG/ATPase_V1_suS1	ENSG00000071553		0.552	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	-	0	33	0	A	NM_001183		153660199	1	tier1	-	no_errors	ENST00000369762	ensembl	human	known	74_37	silent	57.69	11	15	SNP	0.686	G	G	153660199	A	G	153660199	2	3	83	1	0	0	0	0	0	0	0	1	1166	204	8	4		4	ATP6AP1	23	153660199	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	2356321	153660199	1610361	310	22193											
USP9Y	8287	genome.wustl.edu	37	chrY	14951885	14951885	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggaaagagaatgtgcAattaaattcaatgattattt	16	13	9	3	0	1	2	1	1	0	1	1	5	1	3	0	1	1	1	0	1	7	4			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrY:14951885A>C	ENST00000338981.3	+	36	6378	c.5433A>C	c.(5431-5433)gcA>gcC	p.A1811A	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1811	USP.				BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGAATGTGCAATTAAATTCA	0.393																																																	0													55	51	52					Y																	14951885		599	1934	2533	SO:0001819	synonymous_variant	0			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"Ubiquitin-specific peptidases"	12633	protein-coding gene	gene with protein product	"fat facets-like homolog (Drosophila)"	400005	"ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.5433A>C	Y.37:g.14951885A>C			O14601	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.A1811	ENST00000338981.3	37	c.5433	CCDS14781.1	Y																																																																																			USP9Y	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000114374		0.393	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2	-	0	75	0	A	NM_004654		14951885	1	tier1	-	no_errors	ENST00000338981	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	C	C	14951885	A	C	14951885	2	2	83	1	0	0	0	0	0	0	0	1	17140	117	5	4		4	USP9Y	24	14951885	Silent	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09		14951885	44421681	311	22194											
UTY	7404	genome.wustl.edu	37	chrY	15582100	15582100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagattaaagattcgtagcAgcgaacagcctagaaataaa	19	8	8	6	2	0	3	0	0	0	3	1	4	0	3	1	0	4	2	1	0	9	6			TCGA-L5-A8NI-01A-11D-A37C-09	TCGA-L5-A8NI-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	189b15ae-53a6-40c5-b334-157f0b896a3b	9125397b-fddd-47bb-b4c0-6c9007d878ce	g.chrY:15582100A>T	ENST00000331397.4	-	3	1233	c.226T>A	c.(226-228)Tgc>Agc	p.C76S	UTY_ENST00000537580.1_Missense_Mutation_p.C76S|UTY_ENST00000382896.4_Missense_Mutation_p.C76S|UTY_ENST00000329134.5_Missense_Mutation_p.C76S|UTY_ENST00000545955.1_Missense_Mutation_p.C76S|UTY_ENST00000382893.1_Missense_Mutation_p.C76S|UTY_ENST00000362096.4_Missense_Mutation_p.C76S|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000538878.1_Missense_Mutation_p.C76S|UTY_ENST00000540140.1_Missense_Mutation_p.C76S	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	76					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GATTCGTAGCAGCGAACAGCC	0.353																																					Colon(103;1740 2135 40732 45171)												0													45	47	47					Y																	15582100		585	1916	2501	SO:0001583	missense	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.226T>A	Y.37:g.15582100A>T	ENSP00000328939:p.Cys76Ser		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C76S	ENST00000331397.4	37	c.226	CCDS14783.1	Y																																																																																			UTY	-	NULL	ENSG00000183878		0.353	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1	-	0	36	0	A	NM_182660		15582100	-1	tier1	-	no_errors	ENST00000382896	ensembl	human	known	74_37	missense	94.74	1	18	SNP	1.000	T	T	15582100	A	T	15582100	3	4	83	1	0	0	0	0	1	0	0	0	17156	188	7	5	4184	5	UTY	24	15582100	Missense_Mutation	SNP	A	TCGA-L5-A8NI-01A-11D-A37C-09	630215	15582100	43791466	312	22195											
AGRN	375790	genome.wustl.edu	37	chr1	957614	957614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacttgaagggcaaagacCtggtggcccgggagagcctg	9	6	17	9	1	0	3	0	1	0	2	0	4	0	3	3	5	2	2	3	5	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:957614C>T	ENST00000379370.2	+	2	285	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	79	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGCAAAGACCTGGTGGCCCG	0.617																																																	0													88	98	95					1																	957614		2203	4300	6503	SO:0001819	synonymous_variant	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.235C>T	1.37:g.957614C>T			Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.L79	ENST00000379370.2	37	c.235	CCDS30551.1	1																																																																																			AGRN	-	pfam_Agrin_NtA,superfamily_TIMP-like_OB-fold,pfscan_Agrin_NtA	ENSG00000188157		0.617	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	-	0	129	0	C	NM_198576		957614	1	tier1	-	no_errors	ENST00000379370	ensembl	human	known	74_37	silent	36.61	71	41	SNP	0.098	T	T	957614	C	T	957614	2	4	84	1	0	0	0	0	0	0	0	1	397	680	24	3		3	AGRN	1	957614	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		957614	248293007	1	22196											
PLA2G2E	30814	genome.wustl.edu	37	chr1	20249236	20249236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaactgaaccaggttcccgGtgaccagagccactgcagag	12	5	11	13	1	0	4	0	2	0	2	1	4	1	4	4	2	4	2	4	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:20249236G>T	ENST00000375116.3	-	2	110	c.53C>A	c.(52-54)aCc>aAc	p.T18N		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	18					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aminosalicylic Acid(DB00233)	CAGGTTCCCGGTGACCAGAGC	0.597																																																	0													71	71	71					1																	20249236		2203	4300	6503	SO:0001583	missense	0			AF189279	CCDS200.1	1p36.13	2008-09-19			ENSG00000188784	ENSG00000188784	3.1.1.4		13414	protein-coding gene	gene with protein product						10681567, 11922621	Standard	NM_014589		Approved		uc001bct.1	Q9NZK7	OTTHUMG00000002702	ENST00000375116.3:c.53C>A	1.37:g.20249236G>T	ENSP00000364257:p.Thr18Asn		Q5VXJ8	Missense_Mutation	SNP	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.T18N	ENST00000375116.3	37	c.53	CCDS200.1	1	.	.	.	.	.	.	.	.	.	.	G	5.781	0.328445	0.10956	.	.	ENSG00000188784	ENST00000375116	T	0.24723	1.84	5.97	0.849	0.18972	.	0.830541	0.11127	N	0.596763	T	0.13157	0.0319	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.28235	-1.0050	10	0.87932	D	0	-30.0452	2.0904	0.03655	0.132:0.4982:0.1381:0.2316	.	18	Q9NZK7	PA2GE_HUMAN	N	18	ENSP00000364257:T18N	ENSP00000364257:T18N	T	-	2	0	PLA2G2E	20121823	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.064000	0.14437	0.129000	0.18514	-0.165000	0.13383	ACC	PLA2G2E	-	NULL	ENSG00000188784		0.597	PLA2G2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2E	HGNC	protein_coding	OTTHUMT00000007684.1	-	0	49	0	G	NM_014589		20249236	-1	tier1	-	no_errors	ENST00000375116	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.000	T	T	20249236	G	T	20249236	3	4	84	1	0	0	0	0	1	0	0	0	12037	1261	44	3	387	3	PLA2G2E	1	20249236	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	19291622	20249236	229001385	2	22197											
KIF17	57576	genome.wustl.edu	37	chr1	21016693	21016693	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccacctgtctccttccGcaggttctcctccagcgtgg	3	11	10	17	2	2	0	0	0	2	0	6	0	4	0	6	2	2	2	6	2	0	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:21016693G>T	ENST00000247986.2	-	7	1679	c.1369C>A	c.(1369-1371)Cgg>Agg	p.R457R	KIF17_ENST00000400463.3_Silent_p.R457R|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.R357R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	457					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTCTCCTTCCGCAGGTTCTCC	0.602																																																	0													50	43	45					1																	21016693		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1369C>A	1.37:g.21016693G>T			A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R457	ENST00000247986.2	37	c.1369	CCDS213.1	1																																																																																			KIF17	-	NULL	ENSG00000117245		0.602	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1		0	39	0	G	NM_020816		21016693	-1			no_errors	ENST00000247986	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	21016693	G	T	21016693	2	4	84	1	0	0	0	0	0	0	0	1	8306	1086	38	2		2	KIF17	1	21016693	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	767457	21016693	228233928	3	22198											
CSMD2	114784	genome.wustl.edu	37	chr1	34052206	34052206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggaggcatctgtagcGtacgatgtcacctgtcaaag	10	8	13	10	2	3	0	2	0	1	0	3	2	3	1	2	2	2	3	2	2	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:34052206G>A	ENST00000373381.4	-	46	7125	c.6949C>T	c.(6949-6951)Cgc>Tgc	p.R2317C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2319	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2319C(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCTGTAGCGTACGATGTCA	0.478																																																	1	Substitution - Missense(1)	lung(1)											95	86	89					1																	34052206		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6949C>T	1.37:g.34052206G>A	ENSP00000362479:p.Arg2317Cys		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2317C	ENST00000373381.4	37	c.6949		1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190656	0.78789	.	.	ENSG00000121904	ENST00000373381	T	0.66815	-0.23	5.84	4.86	0.63082	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	D	0.84509	0.0621	10	0.66056	D	0.02	.	11.2181	0.48838	0.0:0.0:0.6513:0.3487	.	2319;2317	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	2317	ENSP00000362479:R2317C	ENSP00000241312:R2319C	R	-	1	0	CSMD2	33824793	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.594000	0.67557	2.764000	0.94973	0.655000	0.94253	CGC	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.478	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0	77	0	G	NM_052896		34052206	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	46.03	34	29	SNP	0.992	A	A	34052206	G	A	34052206	3	1	84	1	0	0	0	0	1	0	0	0	3954	1145	40	1	3600	1	CSMD2	1	34052206	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	13035513	34052206	215198415	4	22199											
MACF1	23499	genome.wustl.edu	37	chr1	39812766	39812766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcagaatcgacagatgCtgaggcttctgaatgaactg	12	9	11	9	1	2	5	1	3	1	2	3	6	2	5	0	1	3	3	0	1	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:39812766C>G	ENST00000372915.3	+	40	10801	c.10714C>G	c.(10714-10716)Ctg>Gtg	p.L3572V	MACF1_ENST00000564288.1_Missense_Mutation_p.L3567V|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3604V|MACF1_ENST00000289893.4_Missense_Mutation_p.L2007V|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3572					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCGACAGATGCTGAGGCTTCT	0.498																																																	0													101	99	100					1																	39812766		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10714C>G	1.37:g.39812766C>G	ENSP00000362006:p.Leu3572Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L3604V	ENST00000372915.3	37	c.10810		1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735396	0.49045	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.34667	1.35;1.35	5.75	5.75	0.90469	.	0.545520	0.15443	N	0.262109	T	0.46386	0.1390	M	0.72894	2.215	0.80722	D	1	B	0.29988	0.264	B	0.34590	0.186	T	0.33445	-0.9868	10	0.30078	T	0.28	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	3572	Q9UPN3	MACF1_HUMAN	V	3572;2007	ENSP00000362006:L3572V;ENSP00000289893:L2007V	ENSP00000289893:L2007V	L	+	1	2	MACF1	39585353	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.313000	0.65798	2.719000	0.93026	0.655000	0.94253	CTG	MACF1	-	superfamily_RNaseH-like_dom,smart_Spectrin/alpha-actinin	ENSG00000127603		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	21	0	C	NM_033044		39812766	1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	35.71	18	10	SNP	1.000	G	G	39812766	C	G	39812766	3	3	84	1	0	0	0	0	1	0	0	0	9180	796	28	5	10806	5	MACF1	1	39812766	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	5760560	39812766	209437855	5	22200											
PDE4B	5142	genome.wustl.edu	37	chr1	66821268	66821268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatgagccgatcagggaAccaggtgtctgaatacattt	13	9	12	7	1	2	3	1	2	1	1	2	6	2	4	2	2	3	0	2	2	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:66821268A>C	ENST00000329654.4	+	9	993	c.806A>C	c.(805-807)aAc>aCc	p.N269T	PDE4B_ENST00000480109.2_Missense_Mutation_p.N36T|PDE4B_ENST00000423207.2_Missense_Mutation_p.N254T|PDE4B_ENST00000371049.3_Missense_Mutation_p.N269T|PDE4B_ENST00000371045.5_Missense_Mutation_p.N97T	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	269					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CGATCAGGGAACCAGGTGTCT	0.358																																																	0													69	73	72					1																	66821268		2203	4300	6503	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"Phosphodiesterases"	8781	protein-coding gene	gene with protein product	"phosphodiesterase E4 dunce homolog (Drosophila)"	600127	"phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)", "phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.806A>C	1.37:g.66821268A>C	ENSP00000332116:p.Asn269Thr		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.N269T	ENST00000329654.4	37	c.806	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527013	0.64860	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000528771;ENST00000371045;ENST00000531025;ENST00000526197;ENST00000480109	T;T;T;T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;0.89;-0.21;0.89;0.89;-0.2	6.01	6.01	0.97437	.	0.483859	0.28290	N	0.015900	T	0.61299	0.2336	M	0.78916	2.43	0.80722	D	1	B;B;B;B;B	0.28378	0.019;0.03;0.038;0.017;0.209	B;B;B;B;B	0.20577	0.013;0.03;0.013;0.013;0.022	T	0.63795	-0.6556	10	0.40728	T	0.16	.	16.5205	0.84312	1.0:0.0:0.0:0.0	.	36;254;139;259;269	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	T	269;269;269;254;50;97;50;50;36	ENSP00000332116:N269T;ENSP00000342637:N269T;ENSP00000360088:N269T;ENSP00000392947:N254T;ENSP00000431909:N50T;ENSP00000360084:N97T;ENSP00000437249:N50T;ENSP00000436104:N50T;ENSP00000432592:N36T	ENSP00000332116:N269T	N	+	2	0	PDE4B	66593856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.313000	0.96297	2.299000	0.77371	0.533000	0.62120	AAC	PDE4B	-	NULL	ENSG00000184588		0.358	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	-	0	67	0	A	NM_002600		66821268	1	tier1	-	no_errors	ENST00000329654	ensembl	human	known	74_37	missense	32.76	39	19	SNP	1.000	C	C	66821268	A	C	66821268	3	2	84	1	0	0	0	0	1	0	0	0	11679	43	2	4	1194	4	PDE4B	1	66821268	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	27008502	66821268	182429353	6	22201											
ST6GALNAC5	81849	genome.wustl.edu	37	chr1	77334346	77334346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctcgcagccggcggcGgagagcagcacccagcagcg	8	1	17	15	5	0	1	0	0	0	1	1	2	0	1	2	4	6	6	2	4	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:77334346G>A	ENST00000477717.1	+	2	415	c.180G>A	c.(178-180)gcG>gcA	p.A60A	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	60					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCCGGCGGCGGAGAGCAGCA	0.746																																																	0													4	6	5					1																	77334346		2031	3902	5933	SO:0001819	synonymous_variant	0				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.180G>A	1.37:g.77334346G>A			B1AK82	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.A60	ENST00000477717.1	37	c.180	CCDS673.1	1																																																																																			ST6GALNAC5	-	pirsf_Sialyl_trans	ENSG00000117069		0.746	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	HGNC	protein_coding	OTTHUMT00000026692.2	-	0	31	0	G	NM_030965		77334346	1	tier1	-	no_errors	ENST00000477717	ensembl	human	known	74_37	silent	42.86	16	12	SNP	0.997	A	A	77334346	G	A	77334346	2	1	84	1	0	0	0	0	0	0	0	1	15274	1103	39	1		1	ST6GALNAC5	1	77334346	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	10513078	77334346	171916275	7	22202											
LRRC8B	23507	genome.wustl.edu	37	chr1	90049626	90049626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcttcgtgtgtaccatTcatctctggtcgtagaccat	8	13	10	10	2	2	1	1	0	1	1	5	2	2	2	2	2	2	3	2	2	2	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:90049626T>C	ENST00000330947.2	+	5	1777	c.1417T>C	c.(1417-1419)Tca>Cca	p.S473P	LRRC8B_ENST00000439853.1_Missense_Mutation_p.S473P|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.S473P	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	473					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TGTGTACCATTCATCTCTGGT	0.488																																																	0													53	52	52					1																	90049626		2203	4300	6503	SO:0001583	missense	0			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"T cell activation leucine repeat rich protein"	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1417T>C	1.37:g.90049626T>C	ENSP00000332674:p.Ser473Pro		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S473P	ENST00000330947.2	37	c.1417	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672666	0.29693	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.00976	5.48;5.48;5.48	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000003	T	0.00998	0.0033	L	0.53249	1.67	0.41089	D	0.985588	D	0.61080	0.989	P	0.47573	0.55	T	0.76493	-0.2939	9	.	.	.	.	15.5492	0.76133	0.0:0.0:0.0:1.0	.	473	Q6P9F7	LRC8B_HUMAN	P	473	ENSP00000332674:S473P;ENSP00000350933:S473P;ENSP00000400704:S473P	.	S	+	1	0	LRRC8B	89822214	0.998000	0.40836	0.541000	0.28102	0.147000	0.21601	3.875000	0.56108	2.122000	0.65172	0.533000	0.62120	TCA	LRRC8B	-	NULL	ENSG00000197147		0.488	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	-	0	35	0	T	NM_015350		90049626	1	tier1	-	no_errors	ENST00000330947	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.882	C	C	90049626	T	C	90049626	3	2	84	1	0	0	0	0	1	0	0	0	9057	1783	62	4	1419	4	LRRC8B	1	90049626	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	12715280	90049626	159200995	8	22203											
EVI5	7813	genome.wustl.edu	37	chr1	93091470	93091470	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttgcaatattattctCatcaggaagggagttattcc	12	13	8	8	0	2	0	2	0	1	0	4	2	3	2	2	2	2	2	2	2	6	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:93091470C>A	ENST00000370331.1	-	13	1510	c.1501G>T	c.(1501-1503)Gag>Tag	p.E501*	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Nonsense_Mutation_p.E501*|EVI5_ENST00000543509.1_Nonsense_Mutation_p.E512*	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	501	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ATATTATTCTCATCAGGAAGG	0.353																																																	0													86	81	83					1																	93091470		2203	4299	6502	SO:0001587	stop_gained	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1501G>T	1.37:g.93091470C>A	ENSP00000359356:p.Glu501*		A6NKX8|B9A6J0|Q9H1Y9	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E512*	ENST00000370331.1	37	c.1534	CCDS30774.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.843840	0.97881	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	.	.	.	5.76	5.76	0.90799	.	0.055428	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-17.4458	19.9596	0.97236	0.0:1.0:0.0:0.0	.	.	.	.	X	501;501;512;200	.	ENSP00000345500:E200X	E	-	1	0	EVI5	92864058	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.487000	0.81328	2.723000	0.93209	0.585000	0.79938	GAG	EVI5	-	NULL	ENSG00000067208		0.353	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	-	0	32	0	C	NM_005665		93091470	-1	tier1	-	no_errors	ENST00000543509	ensembl	human	known	74_37	nonsense	48.89	23	22	SNP	1.000	A	A	93091470	C	A	93091470	4	1	84	1	0	0	0	0	0	1	0	0	5305	835	29	3	955	3	EVI5	1	93091470	Nonsense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	3041844	93091470	156159151	9	22204											
FNBP1L	54874	genome.wustl.edu	37	chr1	93988967	93988967	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactatgcaggacagcgagaAgttgtagcagaagaaatggc	15	6	14	6	1	0	3	0	0	0	3	0	6	0	4	0	2	3	4	0	2	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:93988967A>C	ENST00000271234.7	+	4	412	c.261A>C	c.(259-261)gaA>gaC	p.E87D	FNBP1L_ENST00000370256.4_Missense_Mutation_p.E87D|FNBP1L_ENST00000260506.8_Missense_Mutation_p.E87D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.E87D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E87D	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	87	F-BAR domain. {ECO:0000250}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GACAGCGAGAAGTTGTAGCAG	0.353																																																	0													100	96	97					1																	93988967		1931	4162	6093	SO:0001583	missense	0				CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"chromosome 1 open reading frame 39"	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.261A>C	1.37:g.93988967A>C	ENSP00000271234:p.Glu87Asp		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.E87D	ENST00000271234.7	37	c.261	CCDS53343.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109407	0.77096	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.95	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.68317	2.08	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.75020	0.985;0.924	T	0.12116	-1.0560	10	0.23302	T	0.38	-41.6721	6.8249	0.23876	0.806:0.0:0.194:0.0	.	87;87	Q5T0N5-4;Q5T0N5-3	.;.	D	87	ENSP00000359278:E87D;ENSP00000271234:E87D;ENSP00000260506:E87D;ENSP00000359275:E87D	ENSP00000260506:E87D	E	+	3	2	FNBP1L	93761555	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.599000	0.61076	1.145000	0.42336	0.402000	0.26972	GAA	FNBP1L	-	pfam_FCH_dom,smart_FCH_dom	ENSG00000137942		0.353	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	FNBP1L	HGNC	protein_coding		-	0	51	0	A	NM_017737		93988967	1	tier1	-	no_errors	ENST00000271234	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	C	C	93988967	A	C	93988967	3	2	84	1	0	0	0	0	1	0	0	0	5988	69	3	4	275	4	FNBP1L	1	93988967	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	897497	93988967	155261654	10	22205											
AHCYL1	10768	genome.wustl.edu	37	chr1	110557445	110557445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctggtggtgtattgaccGctgtgtgaacatggatgggt	6	14	15	6	1	1	2	0	2	1	0	1	3	1	3	1	4	1	2	1	4	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:110557445G>T	ENST00000369799.5	+	6	1008	c.641G>T	c.(640-642)cGc>cTc	p.R214L	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R167L|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R167L	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	214					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.R214H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGTATTGACCGCTGTGTGAAC	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											213	190	198					1																	110557445		2203	4300	6503	SO:0001583	missense	0			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.641G>T	1.37:g.110557445G>T	ENSP00000358814:p.Arg214Leu		B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.R214L	ENST00000369799.5	37	c.641	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905056	0.72868	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78481	-1.18;-1.18;-1.18	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.70787	2.145	0.80722	D	1	P	0.38767	0.646	B	0.31946	0.138	T	0.77064	-0.2726	10	0.87932	D	0	-9.99	20.8794	0.99867	0.0:0.0:1.0:0.0	.	214	O43865	SAHH2_HUMAN	L	214;167;167	ENSP00000358814:R214L;ENSP00000352092:R167L;ENSP00000377238:R167L	ENSP00000352092:R167L	R	+	2	0	AHCYL1	110358968	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.946000	0.87746	2.941000	0.99782	0.655000	0.94253	CGC	AHCYL1	-	pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000168710		0.438	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1		0	47	0	G			110557445	1			no_errors	ENST00000369799	ensembl	human	known	74_37	missense	6.38	42	3	SNP	1.000	T	T	110557445	G	T	110557445	3	4	84	1	0	0	0	0	1	0	0	0	410	1087	38	2	663	2	AHCYL1	1	110557445	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	16568478	110557445	138693176	11	22206											
KCND3	3752	genome.wustl.edu	37	chr1	112525093	112525093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaacacctcggggtcccGgtcgaagaagtactccttgg	8	7	14	12	4	0	1	0	0	0	1	4	3	2	2	3	5	2	1	3	5	4	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:112525093G>A	ENST00000315987.2	-	2	735	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	KCND3_ENST00000302127.4_Missense_Mutation_p.R86W|KCND3_ENST00000369697.1_Missense_Mutation_p.R86W	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	86					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TCGGGGTCCCGGTCGAAGAAG	0.627																																																	0													123	111	115					1																	112525093		2203	4300	6503	SO:0001583	missense	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6239	protein-coding gene	gene with protein product		605411	"spinocerebellar ataxia 22", "spinocerebellar ataxia 19"	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.256C>T	1.37:g.112525093G>A	ENSP00000319591:p.Arg86Trp		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R86W	ENST00000315987.2	37	c.256	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022184	0.75275	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.90324	-2.65;-2.65;-2.65	5.74	5.74	0.90152	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97964	0.9330	H	0.99758	4.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99517	1.0957	10	0.87932	D	0	.	19.5181	0.95174	0.0:0.0:1.0:0.0	.	86;86	Q14D71;Q9UK17	.;KCND3_HUMAN	W	86	ENSP00000358711:R86W;ENSP00000319591:R86W;ENSP00000306923:R86W	ENSP00000306923:R86W	R	-	1	2	KCND3	112326616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.639000	0.74314	2.717000	0.92951	0.655000	0.94253	CGG	KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	ENSG00000171385		0.627	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	-	0	37	0	G	NM_172198		112525093	-1	tier1	-	no_errors	ENST00000315987	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A	A	112525093	G	A	112525093	3	1	84	1	0	0	0	0	1	0	0	0	8047	1115	39	1	1739	1	KCND3	1	112525093	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1967648	112525093	136725528	12	22207											
NBPF14	25832	genome.wustl.edu	37	chr1	148024806	148024806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacttgtccggctcatccGgagtgaggagggcctggaga	7	7	18	9	2	1	2	1	1	0	1	3	6	3	5	3	6	0	1	3	6	0	1	rs587659915	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:148024806G>A	ENST00000369219.1	-	2	207	c.191C>T	c.(190-192)cCg>cTg	p.P64L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	64						cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CGGCTCATCCGGAGTGAGGAG	0.592													-|||	4	0.000798722	0	0.0014	5008	,	,		25471	0.001		0	False		,,,				2504	0.002																0													10	17	15					1																	148024806		526	1885	2411	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.191C>T	1.37:g.148024806G>A	ENSP00000358221:p.Pro64Leu		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.P64L	ENST00000369219.1	37	c.191		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.263|0.263	-0.998262|-0.998262	0.02145|0.02145	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219|ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	T|.	0.03801|.	3.8|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.17662|0.17662	0.0424|0.0424	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;P|.	0.41008|.	0.003;0.735|.	B;B|.	0.28385|.	0.001;0.089|.	T|T	0.33266|0.33266	-0.9875|-0.9875	8|4	0.56958|.	D|.	0.05|.	.|.	4.7408|4.7408	0.13012|0.13012	1.0E-4:0.0:0.6494:0.3505|1.0E-4:0.0:0.6494:0.3505	.|.	64;329|.	Q5TI25;Q5VTG7|.	NBPFE_HUMAN;.|.	L|W	64|70;75;75;75;75;75;75;75	ENSP00000358221:P64L|.	ENSP00000358221:P64L|.	P|R	-|-	2|1	0|2	NBPF14|NBPF14	146491430|146491430	0.002000|0.002000	0.14202|0.14202	0.010000|0.010000	0.14722|0.14722	0.331000|0.331000	0.28603|0.28603	-0.386000|-0.386000	0.07370|0.07370	-0.921000|-0.921000	0.03794|0.03794	0.064000|0.064000	0.15345|0.15345	CCG|CGG	NBPF14	-	NULL	ENSG00000122497		0.592	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding		-	0	56	0	G	NM_015383		148024806	-1	tier1	-	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	38.46	40	25	SNP	0.011	A	A	148024806	G	A	148024806	3	1	84	1	0	0	0	0	1	0	0	0	10233	1116	39	1	2658	1	NBPF14	1	148024806	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	35499713	148024806	101225815	13	22208											
C1orf51	148523	genome.wustl.edu	37	chr1	150255816	150255816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccatgggcccaggccaGacactgttgggcagagggga	8	4	18	11	0	0	2	0	0	0	2	0	3	0	3	3	6	0	2	3	6	0	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:150255816G>A	ENST00000290363.5	+	1	588	c.139G>A	c.(139-141)Gac>Aac	p.D47N	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.D47N	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		47					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCAGGCCAGACACTGTTGG	0.597																																																	0													108	111	110					1																	150255816		2203	4300	6503	SO:0001583	missense	0																														ENST00000290363.5:c.139G>A	1.37:g.150255816G>A	ENSP00000290363:p.Asp47Asn		B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	NULL	p.D47N	ENST00000290363.5	37	c.139	CCDS949.1	1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510431	0.44660	.	.	ENSG00000159208	ENST00000369095;ENST00000290363	.	.	.	4.7	3.79	0.43588	.	0.621203	0.16946	N	0.193116	T	0.27697	0.0681	L	0.51422	1.61	0.31053	N	0.71497	B	0.14438	0.01	B	0.15052	0.012	T	0.22138	-1.0225	9	0.62326	D	0.03	3.2911	8.6867	0.34243	0.1026:0.0:0.8974:0.0	.	47	Q8N365	CA051_HUMAN	N	47	.	ENSP00000290363:D47N	D	+	1	0	C1orf51	148522440	0.106000	0.21978	0.984000	0.44739	0.945000	0.59286	1.826000	0.39092	1.205000	0.43262	-0.140000	0.14226	GAC	C1orf51	-	NULL	ENSG00000159208		0.597	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1orf51	HGNC	protein_coding	OTTHUMT00000035058.1	-	0	43	0	G			150255816	1	tier1	-	no_errors	ENST00000290363	ensembl	human	known	74_37	missense	50.00	34	34	SNP	0.986	A	A	150255816	G	A	150255816	3	1	84	1	0	0	0	0	1	0	0	0	2050	942	33	3	141	3	C1orf51	1	150255816	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	2231010	150255816	98994805	14	22209											
CGN	57530	genome.wustl.edu	37	chr1	151509274	151509274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaattgagcgactggaCggcctgaggaagaaggccca	13	4	16	8	2	0	3	0	2	0	1	0	8	0	6	2	5	1	0	2	5	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:151509274C>T	ENST00000271636.7	+	20	3508	c.3375C>T	c.(3373-3375)gaC>gaT	p.D1125D		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1119					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCGACTGGACGGCCTGAGGA	0.552																																																	0													145	144	145					1																	151509274		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3375C>T	1.37:g.151509274C>T			A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	pfam_Myosin_tail	p.D1125	ENST00000271636.7	37	c.3375	CCDS999.1	1																																																																																			CGN	-	pfam_Myosin_tail	ENSG00000143375		0.552	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	-	0	50	0	C	NM_020770		151509274	1	tier1	-	no_errors	ENST00000271636	ensembl	human	known	74_37	silent	5.43	87	5	SNP	0.033	T	T	151509274	C	T	151509274	2	4	84	1	0	0	0	0	0	0	0	1	3310	535	19	1		1	CGN	1	151509274	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1253458	151509274	97741347	15	22210											
IL6R	3570	genome.wustl.edu	37	chr1	154401896	154401896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgggccggccgcccagctGggactgtgcacttgctggtg	4	7	16	14	3	0	0	0	0	0	0	0	1	0	1	4	4	3	3	4	4	0	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:154401896G>T	ENST00000368485.3	+	2	747	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	IL6R_ENST00000344086.4_Missense_Mutation_p.G104W	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	104	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CCGCCCAGCTGGGACTGTGCA	0.597																																																	0													41	47	45					1																	154401896		2203	4300	6503	SO:0001583	missense	0			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.310G>T	1.37:g.154401896G>T	ENSP00000357470:p.Gly104Trp		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G104W	ENST00000368485.3	37	c.310	CCDS1067.1	1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923874	0.52653	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.20738	2.18;2.05;2.34	5.05	4.06	0.47325	Immunoglobulin-like fold (1);	0.615587	0.16908	N	0.194584	T	0.23965	0.0580	M	0.62723	1.935	0.09310	N	0.999999	D;D	0.89917	1.0;1.0	D;P	0.68039	0.955;0.902	T	0.03981	-1.0987	10	0.37606	T	0.19	-30.7994	7.5648	0.27872	0.1165:0.0:0.8835:0.0	.	104;104	P08887-2;P08887	.;IL6RA_HUMAN	W	104	ENSP00000357470:G104W;ENSP00000340589:G104W;ENSP00000423184:G104W	ENSP00000340589:G104W	G	+	1	0	IL6R	152668520	0.830000	0.29337	0.117000	0.21633	0.061000	0.15899	2.192000	0.42649	2.620000	0.88729	0.561000	0.74099	GGG	IL6R	-	smart_Ig_sub	ENSG00000160712		0.597	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	-	0	54	0	G	NM_000565		154401896	1	tier1	-	no_errors	ENST00000368485	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.084	T	T	154401896	G	T	154401896	3	4	84	1	0	0	0	0	1	0	0	0	7729	1348	47	3	316	3	IL6R	1	154401896	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	2892622	154401896	94848725	16	22211											
CD1E	913	genome.wustl.edu	37	chr1	158325192	158325192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctgagtttccaaggaaTttcctgggagccatctccag	8	13	9	11	0	1	1	0	1	1	0	5	3	4	3	5	2	1	1	5	2	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:158325192T>G	ENST00000368167.3	+	3	697	c.458T>G	c.(457-459)aTt>aGt	p.I153S	CD1E_ENST00000434258.1_Missense_Mutation_p.I151S|CD1E_ENST00000444681.2_Missense_Mutation_p.I54S|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.I153S|CD1E_ENST00000368161.3_Missense_Mutation_p.I153S|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.I153S|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	153					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTCCAAGGAATTTCCTGGGAG	0.453																																																	0													95	93	94					1																	158325192		1837	4098	5935	SO:0001583	missense	0			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1638	protein-coding gene	gene with protein product		188411	"CD1E antigen, e polypeptide", "CD1e antigen"			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.458T>G	1.37:g.158325192T>G	ENSP00000357149:p.Ile153Ser		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.I153S	ENST00000368167.3	37	c.458	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	T	4.057	0.008394	0.07912	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41	4.53	-0.224	0.13115	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.142540	0.06570	N	0.748431	T	0.00496	0.0016	N	0.00841	-1.15	0.19575	N	0.999961	B;B;B;B;B;B;B	0.14438	0.006;0.006;0.0;0.001;0.001;0.01;0.009	B;B;B;B;B;B;B	0.09377	0.001;0.001;0.001;0.001;0.0;0.001;0.004	T	0.46247	-0.9205	10	0.17832	T	0.49	-0.158	3.0575	0.06189	0.4599:0.0:0.336:0.2041	.	54;151;54;153;153;153;153	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	S	151;54;153;153;153;153	ENSP00000401957:I151S;ENSP00000402906:I54S;ENSP00000357149:I153S;ENSP00000357145:I153S;ENSP00000357142:I153S;ENSP00000357143:I153S	ENSP00000357142:I153S	I	+	2	0	CD1E	156591816	0.000000	0.05858	0.433000	0.26760	0.765000	0.43378	-0.294000	0.08309	-0.105000	0.12132	-0.445000	0.05633	ATT	CD1E	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158488		0.453	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	-	0	44	0	T	NM_030893		158325192	1	tier1	-	no_errors	ENST00000368167	ensembl	human	known	74_37	missense	25.68	55	19	SNP	0.468	G	G	158325192	T	G	158325192	3	3	84	1	0	0	0	0	1	0	0	0	2985	1493	52	4	468	4	CD1E	1	158325192	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	3923296	158325192	90925429	17	22212											
ASTN1	460	genome.wustl.edu	37	chr1	177030253	177030253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagctcctcttctgcCgactcatgttggggttcttc	4	15	8	14	1	5	0	2	0	3	0	8	1	7	0	3	2	2	3	3	2	0	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:177030253C>T	ENST00000367654.3	-	2	643	c.432G>A	c.(430-432)tcG>tcA	p.S144S	ASTN1_ENST00000361833.2_Silent_p.S144S|ASTN1_ENST00000367657.3_Silent_p.S144S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.S144S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	144					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTCTTCTGCCGACTCATGTT	0.502																																																	0													229	213	218					1																	177030253		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.432G>A	1.37:g.177030253C>T			A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.S144	ENST00000367654.3	37	c.432		1																																																																																			ASTN1	-	NULL	ENSG00000152092		0.502	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0	57	0	C	NM_004319		177030253	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	silent	76.39	17	55	SNP	0.002	T	T	177030253	C	T	177030253	2	4	84	1	0	0	0	0	0	0	0	1	1065	639	23	1		1	ASTN1	1	177030253	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	18705061	177030253	72220368	18	22213											
CFH	3075	genome.wustl.edu	37	chr1	196659363	196659363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctactcccagatgcatcCgtgtcagtaagtacactact	10	11	6	14	1	1	1	1	0	0	1	4	1	4	1	3	0	4	3	3	0	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:196659363C>T	ENST00000359637.2	+	8	1200	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	CFH_ENST00000439155.2_Missense_Mutation_p.R444C|CFH_ENST00000367429.4_Missense_Mutation_p.R444C			P08603	CFAH_HUMAN	complement factor H	444	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGATGCATCCGTGTCAGTAA	0.423																																																	0													107	88	95					1																	196659363		2203	4300	6503	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.1138C>T	1.37:g.196659363C>T	ENSP00000352658:p.Arg380Cys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R444C	ENST00000359637.2	37	c.1330		1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.483643	0.26598	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.74526	0.73;-0.85;-0.85	4.52	3.6	0.41247	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	D	0.85767	0.5773	M	0.89095	3.005	0.09310	N	1	D;D;D;D	0.89917	0.997;1.0;0.999;0.999	P;D;P;D	0.65987	0.73;0.94;0.693;0.911	T	0.75673	-0.3236	9	0.37606	T	0.19	.	10.7957	0.46459	0.0:0.809:0.191:0.0	.	380;444;444;444	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	C	444;444;444;380	ENSP00000356399:R444C;ENSP00000402656:R444C;ENSP00000352658:R380C	ENSP00000352658:R380C	R	+	1	0	CFH	194925986	0.000000	0.05858	0.006000	0.13384	0.018000	0.09664	0.502000	0.22594	1.493000	0.48517	0.655000	0.94253	CGT	CFH	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.423	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	-	0	49	0	C	NM_000186		196659363	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	68.12	22	47	SNP	0.007	T	T	196659363	C	T	196659363	3	4	84	1	0	0	0	0	1	0	0	0	3290	652	23	1	1364	1	CFH	1	196659363	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	19629110	196659363	52591258	19	22214											
USH2A	7399	genome.wustl.edu	37	chr1	216011345	216011345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttgtaccttgaagtgatgCcacgaattgtgggtgttggt	7	16	13	5	1	0	2	0	2	0	0	0	3	0	2	2	2	2	2	2	2	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:216011345C>T	ENST00000307340.3	-	47	9745	c.9359G>A	c.(9358-9360)gGc>gAc	p.G3120D	USH2A_ENST00000366943.2_Missense_Mutation_p.G3120D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3120	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAAGTGATGCCACGAATTGT	0.388										HNSCC(13;0.011)																																							0													226	203	210					1																	216011345		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9359G>A	1.37:g.216011345C>T	ENSP00000305941:p.Gly3120Asp		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.G3120D	ENST00000307340.3	37	c.9359	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	0.050	-1.254532	0.01457	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.52983	0.64;0.64	5.01	-2.38	0.06622	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.448360	0.04862	N	0.444315	T	0.29190	0.0726	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.12103	T	0.63	.	7.0786	0.25219	0.1833:0.544:0.0:0.2727	.	3120	O75445	USH2A_HUMAN	D	3120	ENSP00000305941:G3120D;ENSP00000355910:G3120D	ENSP00000305941:G3120D	G	-	2	0	USH2A	214077968	0.000000	0.05858	0.006000	0.13384	0.043000	0.13939	0.059000	0.14322	-0.217000	0.10033	-0.302000	0.09304	GGC	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000042781		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	28	0	C	NM_007123		216011345	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T	T	216011345	C	T	216011345	3	4	84	1	0	0	0	0	1	0	0	0	17085	739	26	3	6353	3	USH2A	1	216011345	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	19351982	216011345	33239276	20	22215											
ITPKB	3707	genome.wustl.edu	37	chr1	226827315	226827315	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggtgacctgctccctCgttttggtcttcttgaagtc	3	15	10	13	2	2	2	0	2	2	0	6	2	3	2	3	2	1	2	3	2	1	4	rs116826768	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:226827315C>A	ENST00000272117.3	-	5	2495	c.2496G>T	c.(2494-2496)acG>acT	p.T832T	ITPKB_ENST00000429204.1_Silent_p.T832T			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	832					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGCTCCCTCGTTTTGGTCT	0.572																																					Colon(84;110 1851 5306 33547)												0													189	170	177					1																	226827315		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"inositol 1,4,5-trisphosphate 3-kinase B"			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2496G>T	1.37:g.226827315C>A			Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	pfam_IPK	p.T832	ENST00000272117.3	37	c.2496	CCDS1555.1	1																																																																																			ITPKB	-	pfam_IPK	ENSG00000143772		0.572	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0	51	0	C	NM_002221		226827315	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.609	A	A	226827315	C	A	226827315	2	1	84	1	0	0	0	0	0	0	0	1	7945	871	31	2		2	ITPKB	1	226827315	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	10815970	226827315	22423306	21	22216											
ZNF678	339500	genome.wustl.edu	37	chr1	227843248	227843248	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatactggagagaaacccTacaaatgtaaagaatgtggc	16	9	9	7	0	1	2	1	0	0	2	1	4	1	3	1	2	3	1	1	2	7	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:227843248T>C	ENST00000343776.5	+	4	1642	c.1297T>C	c.(1297-1299)Tac>Cac	p.Y433H	ZNF678_ENST00000397097.3_Missense_Mutation_p.Y488H|ZNF678_ENST00000608949.1_Intron	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				AGAGAAACCCTACAAATGTAA	0.368																																																	0													35	40	38					1																	227843248		2200	4293	6493	SO:0001583	missense	0			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"Zinc fingers, C2H2-type", "-"	28652	protein-coding gene	gene with protein product	"hypothetical protein MGC42493"					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1297T>C	1.37:g.227843248T>C	ENSP00000344828:p.Tyr433His		Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y488H	ENST00000343776.5	37	c.1462		1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613913	0.28712	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.21734	1.99;1.99	1.63	0.207	0.15214	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30324	0.0761	L	0.40543	1.245	0.09310	N	0.999996	D	0.54207	0.965	D	0.66979	0.948	T	0.13845	-1.0494	9	0.66056	D	0.02	.	5.8513	0.18694	0.0:0.0:0.2711:0.7289	.	433	Q5SXM1	ZN678_HUMAN	H	433;488	ENSP00000344828:Y433H;ENSP00000440403:Y488H	ENSP00000344828:Y433H	Y	+	1	0	ZNF678	225909871	0.024000	0.19004	0.003000	0.11579	0.004000	0.04260	2.314000	0.43743	-0.165000	0.10908	-0.386000	0.06593	TAC	ZNF678	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181450		0.368	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	-	0	30	0	T	NM_178549		227843248	1	tier1	-	no_errors	ENST00000397097	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.376	C	C	227843248	T	C	227843248	3	2	84	1	0	0	0	0	1	0	0	0	18133	1522	53	4	1476	4	ZNF678	1	227843248	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	1015933	227843248	21407373	22	22217											
ABCB10	23456	genome.wustl.edu	37	chr1	229661843	229661843	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatgttctcagcaatagaGcaagaaaacaaaatgggttc	17	8	9	7	0	1	2	1	0	1	2	3	2	1	2	0	1	3	5	0	1	8	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:229661843G>T	ENST00000344517.4	-	10	1788	c.1746C>A	c.(1744-1746)tgC>tgA	p.C582*		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	582	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGCAATAGAGCAAGAAAACA	0.403																																																	0													69	70	70					1																	229661843		2203	4300	6503	SO:0001587	stop_gained	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1746C>A	1.37:g.229661843G>T	ENSP00000355637:p.Cys582*		Q13040|Q6P1Q8|Q9H3V0	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.C582*	ENST00000344517.4	37	c.1746	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863872	0.71949	.	.	ENSG00000135776	ENST00000344517	.	.	.	4.85	0.742	0.18341	.	0.043207	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-18.6668	10.7046	0.45948	0.3522:0.0:0.6478:0.0	.	.	.	.	X	582	.	ENSP00000355637:C582X	C	-	3	2	ABCB10	227728466	1.000000	0.71417	0.907000	0.35723	0.519000	0.34347	2.263000	0.43293	0.192000	0.20272	0.591000	0.81541	TGC	ABCB10	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000135776		0.403	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	-	0	54	0	G	NM_012089		229661843	-1	tier1	-	no_errors	ENST00000344517	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	229661843	G	T	229661843	4	4	84	1	0	0	0	0	0	1	0	0	41	963	34	3	486	3	ABCB10	1	229661843	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1818595	229661843	19588778	23	22218											
NLRP3	114548	genome.wustl.edu	37	chr1	247587770	247587770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcagaaagaagctgcttcCcgaggcctctctgctcatca	10	9	8	14	1	4	2	3	0	1	2	6	3	5	2	2	1	3	3	2	1	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr1:247587770C>T	ENST00000336119.3	+	3	1771	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	NLRP3_ENST00000391827.2_Missense_Mutation_p.P342L|NLRP3_ENST00000366497.2_Missense_Mutation_p.P342L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P342L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P342L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.P342L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	342	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAGCTGCTTCCCGAGGCCTCT	0.592																																																	0													58	61	60					1																	247587770		2203	4300	6503	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1025C>T	1.37:g.247587770C>T	ENSP00000337383:p.Pro342Leu		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P342L	ENST00000336119.3	37	c.1025	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924701	0.52653	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	3.84	3.84	0.44239	NACHT nucleoside triphosphatase (1);	0.000000	0.51477	D	0.000095	D	0.88916	0.6567	M	0.83692	2.655	0.80722	D	1	P;D;D;D;D	0.89917	0.857;1.0;0.997;1.0;1.0	P;D;D;D;D	0.97110	0.686;0.995;0.95;0.999;1.0	D	0.89618	0.3846	10	0.66056	D	0.02	.	11.5521	0.50726	0.0:1.0:0.0:0.0	.	342;342;342;342;342	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	L	342	ENSP00000375704:P342L;ENSP00000355453:P342L;ENSP00000337383:P342L;ENSP00000294752:P342L;ENSP00000355452:P342L;ENSP00000375703:P342L	ENSP00000337383:P342L	P	+	2	0	NLRP3	245654393	0.834000	0.29399	0.196000	0.23383	0.447000	0.32167	2.414000	0.44627	2.436000	0.82500	0.563000	0.77884	CCC	NLRP3	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000162711		0.592	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	-	0	17	0	C	NM_004895		247587770	1	tier1	-	no_errors	ENST00000336119	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.993	T	T	247587770	C	T	247587770	3	4	84	1	0	0	0	0	1	0	0	0	10517	623	22	3	1035	3	NLRP3	1	247587770	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	17925927	247587770	1662851	24	22219											
ALLC	55821	genome.wustl.edu	37	chr2	3721693	3721693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacagatgacttttttgCtcctgcagaaaacctcataa	13	12	6	10	0	1	3	1	1	0	2	2	3	2	3	2	0	5	3	2	0	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:3721693C>T	ENST00000252505.3	+	3	224	c.62C>T	c.(61-63)gCt>gTt	p.A21V		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	40					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GACTTTTTTGCTCCTGCAGAA	0.333										HNSCC(21;0.051)																																							0													30	30	30					2																	3721693		1797	4055	5852	SO:0001583	missense	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.62C>T	2.37:g.3721693C>T	ENSP00000252505:p.Ala21Val		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.A21V	ENST00000252505.3	37	c.62	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266908	0.80469	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.49	4.6	0.57074	Allantoicase domain (1);Galactose-binding domain-like (1);	0.051380	0.85682	D	0.000000	D	0.85517	0.5715	H	0.94771	3.58	0.41406	D	0.987705	D	0.71674	0.998	D	0.68621	0.959	D	0.89505	0.3767	9	0.87932	D	0	-14.4494	13.7207	0.62725	0.0:0.8382:0.1618:0.0	.	40	Q8N6M5	ALLC_HUMAN	V	21	.	ENSP00000252505:A21V	A	+	2	0	ALLC	3699568	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.736000	0.47385	1.259000	0.44117	0.655000	0.94253	GCT	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.333	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	-	0	54	0	C			3721693	1	tier1	-	no_errors	ENST00000252505	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T	T	3721693	C	T	3721693	3	4	84	1	0	0	0	0	1	0	0	0	534	797	28	3	68	3	ALLC	2	3721693	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		3721693	239477680	25	22220											
NCOA1	8648	genome.wustl.edu	37	chr2	24952369	24952369	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcttcttttctaacaGgggggtggattagatgtatt	7	17	12	5	0	3	1	0	0	3	1	3	2	3	2	0	5	1	2	0	5	3	8			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:24952369G>A	ENST00000406961.1	+	17	3538		c.e17-1		NCOA1_ENST00000407230.1_Splice_Site|NCOA1_ENST00000348332.3_Splice_Site|NCOA1_ENST00000405141.1_Splice_Site|NCOA1_ENST00000288599.5_Splice_Site|NCOA1_ENST00000395856.3_Splice_Site|NCOA1_ENST00000538539.1_Splice_Site			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1						androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCTAACAGGGGGGTGGAT	0.373			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													72	72	72					2																	24952369		2203	4300	6503	SO:0001630	splice_region_variant	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.2887-1G>A	2.37:g.24952369G>A			O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Splice_Site	SNP	-	e13-1	ENST00000406961.1	37	c.2887-1	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769325	0.69992	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	.	.	.	4.98	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4512	0.61172	0.0764:0.0:0.9236:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCOA1	24805873	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.393000	0.79851	1.485000	0.48380	0.585000	0.79938	.	NCOA1	-	-	ENSG00000084676		0.373	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	-	0	37	0	G	NM_147223	Intron	24952369	1	tier1	-	no_errors	ENST00000348332	ensembl	human	known	74_37	splice_site	7.55	49	4	SNP	1.000	A	A	24952369	G	A	24952369	5	1	84	1	0	0	0	0	0	0	1	0	10267	1014	35	3	2936	3	NCOA1	2	24952369	Splice_Site	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	21230676	24952369	218247004	26	22221											
TCF23	150921	genome.wustl.edu	37	chr2	27375630	27375630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactccaccacagccagcacCcccagccaaagaacaagaga	16	1	7	17	0	0	2	0	0	0	2	1	4	1	2	6	0	4	1	6	0	3	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:27375630C>T	ENST00000296096.5	+	3	670	c.540C>T	c.(538-540)acC>acT	p.T180T		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	180					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCAGCACCCCCAGCCAAA	0.572																																																	0													87	83	84					2																	27375630		2203	4300	6503	SO:0001819	synonymous_variant	0			AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"Basic helix-loop-helix proteins"	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.540C>T	2.37:g.27375630C>T			B2RNZ3	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T180	ENST00000296096.5	37	c.540	CCDS33163.1	2																																																																																			TCF23	-	NULL	ENSG00000163792		0.572	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF23	HGNC	protein_coding	OTTHUMT00000324980.1	-	0	40	0	C	NM_175769		27375630	1	tier1	-	no_errors	ENST00000296096	ensembl	human	known	74_37	silent	18.18	36	8	SNP	0.000	T	T	27375630	C	T	27375630	2	4	84	1	0	0	0	0	0	0	0	1	15739	610	22	3		3	TCF23	2	27375630	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2423261	27375630	215823743	27	22222											
EHD3	30845	genome.wustl.edu	37	chr2	31489489	31489489	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggccaaccacctcatcaaAgtcaagctggaggggcacga	12	5	11	13	1	3	0	3	0	0	0	3	2	3	1	3	4	2	2	3	4	3	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:31489489A>G	ENST00000322054.5	+	6	1812	c.1527A>G	c.(1525-1527)aaA>aaG	p.K509K	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	509	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					ACCTCATCAAAGTCAAGCTGG	0.602																																																	0													92	86	88					2																	31489489		2203	4300	6503	SO:0001819	synonymous_variant	0			AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"EF-hand domain containing"	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1527A>G	2.37:g.31489489A>G			B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.K509	ENST00000322054.5	37	c.1527	CCDS1774.1	2																																																																																			EHD3	-	smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	ENSG00000013016		0.602	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD3	HGNC	protein_coding	OTTHUMT00000216810.1	-	0	78	0	A	NM_014600		31489489	1	tier1	-	no_errors	ENST00000322054	ensembl	human	known	74_37	silent	28.57	50	20	SNP	0.992	G	G	31489489	A	G	31489489	2	3	84	1	0	0	0	0	0	0	0	1	4993	69	3	4		4	EHD3	2	31489489	Silent	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	4113859	31489489	211709884	28	22223											
NLRC4	58484	genome.wustl.edu	37	chr2	32475733	32475733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacttgtgggagaacacAccctccagagctaggtctcc	11	8	9	13	0	2	2	1	0	1	2	4	3	3	2	3	2	3	1	3	2	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:32475733A>G	ENST00000404025.2	-	5	1688	c.1200T>C	c.(1198-1200)ggT>ggC	p.G400G	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Silent_p.G400G|NLRC4_ENST00000402280.1_Silent_p.G400G			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	400	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Winged-helix domain (WHD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGGAGAACACACCCTCCAGAG	0.468																																																	0													68	71	70					2																	32475733		2203	4300	6503	SO:0001819	synonymous_variant	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1200T>C	2.37:g.32475733A>G			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.G400	ENST00000404025.2	37	c.1200	CCDS33174.1	2																																																																																			NLRC4	-	NULL	ENSG00000091106		0.468	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	-	0	62	0	A	NM_021209		32475733	-1	tier1	-	no_errors	ENST00000360906	ensembl	human	known	74_37	silent	28.77	52	21	SNP	0.963	G	G	32475733	A	G	32475733	2	3	84	1	0	0	0	0	0	0	0	1	10508	146	6	4		4	NLRC4	2	32475733	Silent	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	986244	32475733	210723640	29	22224											
SRBD1	55133	genome.wustl.edu	37	chr2	45616543	45616543	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctccggggcccagtccaAggcttcttctcttctttgtt	3	17	8	13	1	4	0	0	0	4	0	7	0	5	0	3	3	0	2	3	3	1	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:45616543A>G	ENST00000263736.4	-	21	2956	c.2894T>C	c.(2893-2895)cTt>cCt	p.L965P	SRBD1_ENST00000535761.1_Missense_Mutation_p.L484P|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	965	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GCCCAGTCCAAGGCTTCTTCT	0.443																																																	0													87	89	88					2																	45616543		2203	4300	6503	SO:0001583	missense	0			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.2894T>C	2.37:g.45616543A>G	ENSP00000263736:p.Leu965Pro		Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.L965P	ENST00000263736.4	37	c.2894	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968026	0.74131	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	T;T	0.44083	0.93;0.93	4.14	4.14	0.48551	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.64402	D	0.000001	T	0.52757	0.1754	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57277	-0.7839	10	0.72032	D	0.01	.	14.2157	0.65792	1.0:0.0:0.0:0.0	.	965	Q8N5C6	SRBD1_HUMAN	P	965;484	ENSP00000263736:L965P;ENSP00000441272:L484P	ENSP00000263736:L965P	L	-	2	0	SRBD1	45470047	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	8.539000	0.90637	2.096000	0.63516	0.460000	0.39030	CTT	SRBD1	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000068784		0.443	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	-	0	60	0	A	NM_018079		45616543	-1	tier1	-	no_errors	ENST00000263736	ensembl	human	known	74_37	missense	35.62	47	26	SNP	1.000	G	G	45616543	A	G	45616543	3	3	84	1	0	0	0	0	1	0	0	0	15180	72	3	4	97	4	SRBD1	2	45616543	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	13140810	45616543	197582830	30	22225											
VWA3B	200403	genome.wustl.edu	37	chr2	98844703	98844703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagttaaggaaatggaacaGggtcacagtgatctggagaa	15	9	13	4	0	2	2	1	1	1	1	2	5	2	4	0	4	1	1	0	4	5	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:98844703G>T	ENST00000477737.1	+	15	2262	c.2058G>T	c.(2056-2058)caG>caT	p.Q686H		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	686								p.Q686Q(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATGGAACAGGGTCACAGTG	0.398																																																	1	Substitution - coding silent(1)	lung(1)											107	108	108					2																	98844703		1990	4159	6149	SO:0001583	missense	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.2058G>T	2.37:g.98844703G>T	ENSP00000417955:p.Gln686His		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q686H	ENST00000477737.1	37	c.2058	CCDS42718.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.175|7.175	0.588440|0.588440	0.13812|0.13812	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000473149|ENST00000477737	.|T	.|0.06933	.|3.24	5.8|5.8	3.05|3.05	0.35203|0.35203	.|.	.|0.420734	.|0.22406	.|N	.|0.060465	T|T	0.19805|0.19805	0.0476|0.0476	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.76494	.|0.995;0.999;0.459;0.98	.|P;P;B;P	.|0.58873	.|0.799;0.786;0.16;0.847	T|T	0.00099|0.00099	-1.2068|-1.2068	5|10	.|0.72032	.|D	.|0.01	.|.	12.1973|12.1973	0.54305|0.54305	0.2125:0.0:0.7875:0.0|0.2125:0.0:0.7875:0.0	.|.	.|78;686;686;686	.|Q502W6-5;Q502W6;Q502W6-8;Q502W6-6	.|.;VWA3B_HUMAN;.;.	W|H	97|686	.|ENSP00000417955:Q686H	.|ENSP00000417955:Q686H	G|Q	+|+	1|3	0|2	VWA3B|VWA3B	98211135|98211135	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.009000|0.009000	0.06853|0.06853	1.151000|1.151000	0.31651|0.31651	0.109000|0.109000	0.17891|0.17891	-1.595000|-1.595000	0.00837|0.00837	GGG|CAG	VWA3B	-	NULL	ENSG00000168658		0.398	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2		0	40	0	G	NM_144992		98844703	1			no_errors	ENST00000477737	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.996	T	T	98844703	G	T	98844703	3	4	84	1	0	0	0	0	1	0	0	0	17290	991	35	3	2112	3	VWA3B	2	98844703	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	53228160	98844703	144354670	31	22226											
LYG1	129530	genome.wustl.edu	37	chr2	99900948	99900948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttcggacatagccagCacccccactgtaggcacaga	10	6	10	15	1	0	1	0	0	0	1	1	2	0	2	3	2	3	5	3	2	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:99900948C>T	ENST00000409448.1	-	8	809	c.493G>A	c.(493-495)Gct>Act	p.A165T	LYG1_ENST00000308528.4_Missense_Mutation_p.A165T			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1	165					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						ACATAGCCAGCACCCCCACTG	0.493																																																	0													104	87	93					2																	99900948		2203	4300	6503	SO:0001583	missense	0			BC029126	CCDS2043.1	2q11.2	2008-02-05			ENSG00000144214	ENSG00000144214			27014	protein-coding gene	gene with protein product						12574869	Standard	NM_174898		Approved	SALW1939	uc002szy.3	Q8N1E2	OTTHUMG00000130639	ENST00000409448.1:c.493G>A	2.37:g.99900948C>T	ENSP00000386923:p.Ala165Thr		Q53RV9	Missense_Mutation	SNP	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.A165T	ENST00000409448.1	37	c.493	CCDS2043.1	2	.	.	.	.	.	.	.	.	.	.	C	8.931	0.963471	0.18583	.	.	ENSG00000144214	ENST00000308528;ENST00000409448	.	.	.	4.54	-5.71	0.02413	Lysozyme-like domain (1);	1.157730	0.06458	N	0.728976	T	0.23766	0.0575	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30357	-0.9981	8	.	.	.	-1.0149	13.5144	0.61533	0.0:0.2746:0.6415:0.0839	.	165	Q8N1E2	LYG1_HUMAN	T	165	.	.	A	-	1	0	LYG1	99267380	0.000000	0.05858	0.001000	0.08648	0.960000	0.62799	-2.424000	0.01029	-0.573000	0.05998	0.561000	0.74099	GCT	LYG1	-	superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	ENSG00000144214		0.493	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LYG1	HGNC	protein_coding	OTTHUMT00000330315.1		0	47	0	C	NM_174898		99900948	-1			no_errors	ENST00000308528	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	99900948	C	T	99900948	3	4	84	1	0	0	0	0	1	0	0	0	9140	710	25	3	95	3	LYG1	2	99900948	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1056245	99900948	143298425	32	22227											
NCK2	8440	genome.wustl.edu	37	chr2	106471692	106471692	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtccaactacgtggagcGgaagaacagcctgaagaagg	14	4	13	10	3	0	3	0	1	0	2	1	5	1	5	3	3	5	0	3	3	6	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:106471692G>T	ENST00000233154.4	+	3	615	c.173G>T	c.(172-174)cGg>cTg	p.R58L	AC009505.2_ENST00000598281.1_RNA|AC009505.2_ENST00000427050.2_RNA|NCK2_ENST00000522586.1_Missense_Mutation_p.R58L|NCK2_ENST00000393349.2_Missense_Mutation_p.R58L|NCK2_ENST00000451463.2_Missense_Mutation_p.R58L|AC009505.2_ENST00000596418.1_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	58	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						TACGTGGAGCGGAAGAACAGC	0.572																																																	0													85	68	74					2																	106471692		2203	4300	6503	SO:0001583	missense	0			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"SH2 domain containing"	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.173G>T	2.37:g.106471692G>T	ENSP00000233154:p.Arg58Leu		D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.R58L	ENST00000233154.4	37	c.173	CCDS33266.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.766805	0.96914	.	.	ENSG00000071051	ENST00000233154;ENST00000451463;ENST00000393348;ENST00000522586;ENST00000425756;ENST00000393349	T;T;T;T;T;T	0.44083	0.93;1.72;0.93;1.72;0.93;0.93	5.84	5.84	0.93424	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.33137	0.985	0.80722	D	1	D;D	0.69078	0.982;0.997	P;D	0.69307	0.852;0.963	T	0.54820	-0.8236	10	0.56958	D	0.05	.	20.1381	0.98040	0.0:0.0:1.0:0.0	.	58;58	E7ERP6;O43639	.;NCK2_HUMAN	L	58	ENSP00000233154:R58L;ENSP00000410428:R58L;ENSP00000377017:R58L;ENSP00000431109:R58L;ENSP00000408040:R58L;ENSP00000377018:R58L	ENSP00000233154:R58L	R	+	2	0	NCK2	105838124	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.433000	0.97501	2.763000	0.94921	0.650000	0.86243	CGG	NCK2	-	smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain	ENSG00000071051		0.572	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCK2	HGNC	protein_coding	OTTHUMT00000329634.1		0	81	0	G	NM_003581		106471692	1			no_errors	ENST00000233154	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	106471692	G	T	106471692	3	4	84	1	0	0	0	0	1	0	0	0	10259	1116	39	2	175	2	NCK2	2	106471692	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	6570744	106471692	136727681	33	22228											
POTEE	445582	genome.wustl.edu	37	chr2	132021429	132021429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtggctcccgaggagCaccccatcctgctgaccgag	6	7	13	15	3	0	1	0	1	0	0	2	4	2	2	5	2	3	3	5	2	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:132021429C>A	ENST00000356920.5	+	15	2495	c.2401C>A	c.(2401-2403)Cac>Aac	p.H801N	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	801	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TCCCGAGGAGCACCCCATCCT	0.577																																																	0													72	74	73					2																	132021429		2201	4296	6497	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33895	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 2"	608914	"ANKRD26-like family C, member 1A"	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2401C>A	2.37:g.132021429C>A	ENSP00000439189:p.His801Asn		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.H801N	ENST00000356920.5	37	c.2401	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	16.01	3.000238	0.54147	.	.	ENSG00000188219	ENST00000356920	D	0.97529	-4.42	.	.	.	.	.	.	.	.	D	0.96762	0.8943	H	0.95187	3.635	0.80722	D	1	P	0.44241	0.829	B	0.40134	0.32	D	0.94078	0.7341	8	0.72032	D	0.01	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	801	Q6S8J3	POTEE_HUMAN	N	801	ENSP00000439189:H801N	ENSP00000439189:H801N	H	+	1	0	AC131180.1	131737899	1.000000	0.71417	0.333000	0.25482	0.338000	0.28826	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	CAC	POTEE	-	pfam_Actin-related,smart_Actin-related	ENSG00000188219		0.577	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding			0	127	0	C	NM_001083538		132021429	1			no_errors	ENST00000356920	ensembl	human	known	74_37	missense	11.27	126	16	SNP	1.000	A	A	132021429	C	A	132021429	3	1	84	1	0	0	0	0	1	0	0	0	12303	710	25	3	2459	3	POTEE	2	132021429	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	25549737	132021429	111177944	34	22229											
TTN	7273	genome.wustl.edu	37	chr2	179455377	179455377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttttattggatcagaacTtggggatggtttgcttagtc	8	16	12	5	0	1	1	1	0	0	1	2	3	1	3	0	4	3	3	0	4	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:179455377T>G	ENST00000591111.1	-	254	56376	c.56152A>C	c.(56152-56154)Agt>Cgt	p.S18718R	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11419R|TTN_ENST00000460472.2_Missense_Mutation_p.S11294R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S17791R|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S20359R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S11486R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18718	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATCAGAACTTGGGGATGGT	0.433																																																	0													119	115	116					2																	179455377		1871	4094	5965	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56152A>C	2.37:g.179455377T>G	ENSP00000465570:p.Ser18718Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S17791R	ENST00000591111.1	37	c.53371		2	.	.	.	.	.	.	.	.	.	.	T	7.620	0.676534	0.14841	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	6.11	6.11	0.99139	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47340	0.1440	L	0.46947	1.48	0.28004	N	0.935151	P;P;P;P	0.45283	0.855;0.855;0.855;0.855	B;B;B;B	0.41571	0.36;0.36;0.36;0.271	T	0.54523	-0.8281	9	0.87932	D	0	.	8.8934	0.35449	0.0:0.1379:0.0:0.8621	.	11294;11419;11486;18718	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	17791;11294;11486;11419;11292	ENSP00000343764:S17791R;ENSP00000434586:S11294R;ENSP00000340554:S11486R;ENSP00000352154:S11419R	ENSP00000340554:S11486R	S	-	1	0	TTN	179163623	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	1.551000	0.36233	2.343000	0.79666	0.533000	0.62120	AGT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	40	0	T	NM_133378		179455377	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	G	G	179455377	T	G	179455377	3	3	84	1	0	0	0	0	1	0	0	0	16784	1609	56	4	47140	4	TTN	2	179455377	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	47433948	179455377	63743996	35	22230											
NEUROD1	4760	genome.wustl.edu	37	chr2	182543449	182543449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagtcctcctctgcgtTcatggtttcgaggtcgtcct	4	14	11	12	3	2	1	1	1	1	0	7	2	5	1	3	2	1	2	3	2	0	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:182543449T>C	ENST00000295108.3	-	2	596	c.139A>G	c.(139-141)Aac>Gac	p.N47D	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	47					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCCTCTGCGTTCATGGTTTCG	0.567																																																	0													128	99	109					2																	182543449		2203	4300	6503	SO:0001583	missense	0			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.139A>G	2.37:g.182543449T>C	ENSP00000295108:p.Asn47Asp		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.N47D	ENST00000295108.3	37	c.139	CCDS2283.1	2	.	.	.	.	.	.	.	.	.	.	T	10.17	1.275961	0.23307	.	.	ENSG00000162992	ENST00000295108	D	0.94828	-3.53	5.9	2.13	0.27403	.	0.831640	0.10814	N	0.631310	D	0.87334	0.6151	N	0.22421	0.69	0.34916	D	0.747998	B	0.15141	0.012	B	0.06405	0.002	T	0.79313	-0.1855	10	0.17369	T	0.5	.	6.605	0.22720	0.0:0.0778:0.2985:0.6237	.	47	Q13562	NDF1_HUMAN	D	47	ENSP00000295108:N47D	ENSP00000295108:N47D	N	-	1	0	NEUROD1	182251694	1.000000	0.71417	0.987000	0.45799	0.927000	0.56198	1.252000	0.32874	0.436000	0.26393	0.528000	0.53228	AAC	NEUROD1	-	pirsf_TF_bHLH_NeuroD	ENSG00000162992		0.567	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	-	0	42	0	T	NM_002500		182543449	-1	tier1	-	no_errors	ENST00000295108	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.996	C	C	182543449	T	C	182543449	3	2	84	1	0	0	0	0	1	0	0	0	10387	1783	62	4	935	4	NEUROD1	2	182543449	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	3088072	182543449	60655924	36	22231											
MYO1B	4430	genome.wustl.edu	37	chr2	192279381	192279381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgatggcttcttcgccGtccacctcaaagaggtaaag	13	9	9	10	2	2	2	1	1	1	1	4	2	3	2	3	2	0	2	3	2	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:192279381G>A	ENST00000392318.3	+	29	3392	c.3145G>A	c.(3145-3147)Gtc>Atc	p.V1049I	MYO1B_ENST00000339514.4_Missense_Mutation_p.V991I|MYO1B_ENST00000304164.4_Missense_Mutation_p.V1049I|MYO1B_ENST00000439065.2_Missense_Mutation_p.V294I|MYO1B_ENST00000392316.1_Missense_Mutation_p.V1020I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	1049	Myosin tail. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.V991I(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTTCTTCGCCGTCCACCTCAA	0.408																																																	1	Substitution - Missense(1)	central_nervous_system(1)											62	56	58					2																	192279381		2203	4300	6503	SO:0001583	missense	0			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"Myosins / Myosin superfamily : Class I"	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.3145G>A	2.37:g.192279381G>A	ENSP00000376132:p.Val1049Ile		O43794|Q7Z6L5	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1049I	ENST00000392318.3	37	c.3145	CCDS46477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.765|4.765	0.142193|0.142193	0.09083|0.09083	.|.	.|.	ENSG00000128641|ENSG00000128641	ENST00000427152|ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	.|T;T;T;T;T	.|0.28255	.|1.62;1.62;1.62;1.62;1.62	5.25|5.25	-1.35|-1.35	0.09114|0.09114	.|Myosin tail 2 (1);	.|0.475325	.|0.21831	.|N	.|0.068475	T|T	0.09774|0.09774	0.0240|0.0240	N|N	0.02751|0.02751	-0.505|-0.505	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B;B	.|0.30179	.|0.271;0.0;0.0	.|B;B;B	.|0.24394	.|0.053;0.004;0.002	T|T	0.33979|0.33979	-0.9847|-0.9847	5|10	.|0.19147	.|T	.|0.46	.|.	9.462|9.462	0.38789|0.38789	0.4778:0.0:0.5222:0.0|0.4778:0.0:0.5222:0.0	.|.	.|294;1049;991	.|E7EPB4;O43795;O43795-2	.|.;MYO1B_HUMAN;.	H|I	127|991;1049;1049;1020;294	.|ENSP00000341903:V991I;ENSP00000376132:V1049I;ENSP00000306382:V1049I;ENSP00000376130:V1020I;ENSP00000391442:V294I	.|ENSP00000306382:V1049I	R|V	+|+	2|1	0|0	MYO1B|MYO1B	191987626|191987626	0.672000|0.672000	0.27530|0.27530	0.010000|0.010000	0.14722|0.14722	0.651000|0.651000	0.38670|0.38670	0.951000|0.951000	0.29135|0.29135	-0.360000|-0.360000	0.08138|0.08138	-0.229000|-0.229000	0.12294|0.12294	CGT|GTC	MYO1B	-	pfam_Myosin_tail_2	ENSG00000128641		0.408	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	HGNC	protein_coding	OTTHUMT00000334774.1		0	39	0	G	NM_012223		192279381	1			no_errors	ENST00000304164	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.047	A	A	192279381	G	A	192279381	3	1	84	1	0	0	0	0	1	0	0	0	10107	1145	40	1	3255	1	MYO1B	2	192279381	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9735932	192279381	50919992	37	22232											
DIS3L2	129563	genome.wustl.edu	37	chr2	233198653	233198653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcacctcgcccatccgccGctttgccgacgtcctggtgc	3	10	9	19	5	1	0	1	0	0	0	4	1	3	0	6	1	2	1	6	1	0	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr2:233198653G>T	ENST00000409307.1	+	16	2114	c.2114G>T	c.(2113-2115)cGc>cTc	p.R705L	DIS3L2_ENST00000325385.7_Missense_Mutation_p.R705L|DIS3L2_ENST00000273009.6_Intron					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CCCATCCGCCGCTTTGCCGAC	0.677																																																	0													48	54	52					2																	233198653		2156	4253	6409	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"family with sequence similarity 6, member A", "DIS3 mitotic control homolog (S. cerevisiae)-like 2"	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2114G>T	2.37:g.233198653G>T	ENSP00000386799:p.Arg705Leu			Missense_Mutation	SNP	NULL	p.R705L	ENST00000409307.1	37	c.2114	CCDS42834.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	28.7|28.7	4.945432|4.945432	0.92593|0.92593	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000434477|ENST00000325385;ENST00000409307;ENST00000424049	.|T;T;T	.|0.72835	.|-0.69;-0.69;-0.69	4.3|4.3	4.3|4.3	0.51218|0.51218	.|Ribonuclease II/R, conserved site (1);Ribonuclease II/R (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91240|0.91240	0.7239|0.7239	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95403|0.95403	0.8491|0.8491	5|10	.|0.87932	.|D	.|0	-22.9109|-22.9109	16.8176|16.8176	0.85738|0.85738	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|705	.|Q8IYB7	.|DI3L2_HUMAN	S|L	1|705;705;340	.|ENSP00000315569:R705L;ENSP00000386799:R705L;ENSP00000415419:R340L	.|ENSP00000315569:R705L	A|R	+|+	1|2	0|0	DIS3L2|DIS3L2	232906897|232906897	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	9.248000|9.248000	0.95456|0.95456	2.130000|2.130000	0.65690|0.65690	0.645000|0.645000	0.84053|0.84053	GCT|CGC	DIS3L2	-	NULL	ENSG00000144535		0.677	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1		0	50	0	G	NM_152383		233198653	1			no_errors	ENST00000325385	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	233198653	G	T	233198653	3	4	84	1	0	0	0	0	1	0	0	0	4551	1087	38	2	2176	2	DIS3L2	2	233198653	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	40919272	233198653	10000720	38	22233											
ZFYVE20	64145	genome.wustl.edu	37	chr3	15124116	15124116	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcactggtgagcttgtCtgtaaccacaacaccaacag	11	8	10	12	0	1	1	0	1	1	0	1	1	1	1	2	2	4	4	2	2	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:15124116C>A	ENST00000253699.3	-	9	1212		c.e9-1		ZFYVE20_ENST00000449964.2_Intron|ZFYVE20_ENST00000476527.2_Splice_Site|ZFYVE20_ENST00000435849.3_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20						blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.?(1)		NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTGAGCTTGTCTGTAACCACA	0.572																																																	1	Unknown(1)	urinary_tract(1)											105	70	82					3																	15124116		2203	4300	6503	SO:0001630	splice_region_variant	0			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"Zinc fingers, FYVE domain containing"	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.599-1G>T	3.37:g.15124116C>A			B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Splice_Site	SNP	-	e6-1	ENST00000253699.3	37	c.599-1	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186650	0.78789	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.309	0.94177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFYVE20	15099120	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.524000	0.81866	2.557000	0.86248	0.585000	0.79938	.	ZFYVE20	-	-	ENSG00000131381		0.572	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2		0	42	0	C	NM_022340	Intron	15124116	-1			no_errors	ENST00000253699	ensembl	human	known	74_37	splice_site	5.66	50	3	SNP	1.000	A	A	15124116	C	A	15124116	5	1	84	1	0	0	0	0	0	0	1	0	17714	927	32	3	1780	3	ZFYVE20	3	15124116	Splice_Site	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		15124116	182898314	39	22234											
SCN5A	6331	genome.wustl.edu	37	chr3	38592230	38592230	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggttggctgccatgaacTtctcctccatctggatcttc	6	14	9	12	0	3	1	0	1	3	0	6	2	4	2	3	3	2	2	3	3	1	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:38592230T>G	ENST00000333535.4	-	28	5782	c.5633A>C	c.(5632-5634)aAg>aCg	p.K1878T	SCN5A_ENST00000414099.2_Missense_Mutation_p.K1860T|SCN5A_ENST00000449557.2_Missense_Mutation_p.K1824T|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.K1824T|SCN5A_ENST00000455624.2_Missense_Mutation_p.K1845T|SCN5A_ENST00000443581.1_Missense_Mutation_p.K1877T|SCN5A_ENST00000450102.2_Missense_Mutation_p.K1824T|SCN5A_ENST00000413689.1_Missense_Mutation_p.K1878T|SCN5A_ENST00000425664.1_Missense_Mutation_p.K1860T|SCN5A_ENST00000423572.2_Missense_Mutation_p.K1877T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1878	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCCATGAACTTCTCCTCCAT	0.577																																																	0													200	215	210					3																	38592230		2107	4215	6322	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5633A>C	3.37:g.38592230T>G	ENSP00000328968:p.Lys1878Thr		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.K1878T	ENST00000333535.4	37	c.5633	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116072	0.56505	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96396	-3.92;-3.94;-3.94;-3.98;-3.94;-3.92;-3.94;-4.0;-3.98;-3.98	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	M	0.74546	2.27	0.44055	D	0.996792	D;D;D;D;D;P	0.89917	0.999;0.999;1.0;0.999;1.0;0.951	D;D;D;D;D;P	0.97110	0.968;0.991;0.998;0.97;1.0;0.528	D	0.98503	1.0615	10	0.72032	D	0.01	.	14.5422	0.68002	0.0:0.0:0.0:1.0	.	1824;1845;1860;1878;1877;1878	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	1860;1877;1878;1824;1877;1860;1878;1845;1824;1824	ENSP00000398962:K1860T;ENSP00000398266:K1877T;ENSP00000410257:K1878T;ENSP00000388797:K1824T;ENSP00000397915:K1877T;ENSP00000416634:K1860T;ENSP00000328968:K1878T;ENSP00000399524:K1845T;ENSP00000403355:K1824T;ENSP00000413996:K1824T	ENSP00000328968:K1878T	K	-	2	0	SCN5A	38567234	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.234000	0.43035	2.025000	0.59659	0.460000	0.39030	AAG	SCN5A	-	NULL	ENSG00000183873		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	67	0	T	NM_198056		38592230	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	41.18	40	28	SNP	1.000	G	G	38592230	T	G	38592230	3	3	84	1	0	0	0	0	1	0	0	0	13967	1609	56	4	421	4	SCN5A	3	38592230	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	23468114	38592230	159430200	40	22235											
C3orf67	200844	genome.wustl.edu	37	chr3	58856003	58856003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatttttactgttccGtgtaatacttgttcctctgt	6	21	6	8	1	2	1	0	1	2	0	4	1	4	1	2	0	2	3	2	0	3	9			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:58856003G>A	ENST00000482387.1	-	4	469	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.R125W|C3orf67_ENST00000472469.1_Missense_Mutation_p.R45W|RP11-147N17.1_ENST00000482372.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	125										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTACTGTTCCGTGTAATACTT	0.378																																																	0													226	185	199					3																	58856003		2203	4300	6503	SO:0001583	missense	0			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.373C>T	3.37:g.58856003G>A	ENSP00000417122:p.Arg125Trp		B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.R125W	ENST00000482387.1	37	c.373		3	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525033	0.27299	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.51325	0.71;0.71;0.71	5.98	0.81	0.18732	.	0.469271	0.20788	N	0.085667	T	0.32882	0.0844	L	0.51422	1.61	0.09310	N	0.999998	B;B	0.34255	0.445;0.054	B;B	0.25140	0.058;0.017	T	0.21245	-1.0251	10	0.59425	D	0.04	-6.3094	5.7781	0.18292	0.19:0.0:0.2587:0.5512	.	45;125	C9J3M8;Q6ZVT6-2	.;.	W	125;125;45	ENSP00000295966:R125W;ENSP00000417122:R125W;ENSP00000417271:R45W	ENSP00000295966:R125W	R	-	1	2	C3orf67	58831043	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	0.463000	0.21972	0.394000	0.25230	-0.293000	0.09583	CGG	C3orf67	-	NULL	ENSG00000163689		0.378	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	-	0	84	0	G	NM_198463		58856003	-1	tier1	-	no_errors	ENST00000482387	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	A	A	58856003	G	A	58856003	3	1	84	1	0	0	0	0	1	0	0	0	2248	1144	40	1	1354	1	C3orf67	3	58856003	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	20263773	58856003	139166427	41	22236											
EPHA3	2042	genome.wustl.edu	37	chr3	89259074	89259074	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttaccaggtgtgcaatgTcatggaccacagtcaaaaca	14	8	9	10	0	2	0	2	0	0	0	2	2	2	1	2	2	3	1	2	2	4	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:89259074T>A	ENST00000336596.2	+	3	443	c.218T>A	c.(217-219)gTc>gAc	p.V73D	EPHA3_ENST00000494014.1_Missense_Mutation_p.V73D|EPHA3_ENST00000452448.2_Missense_Mutation_p.V73D	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	73	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGTGCAATGTCATGGACCAC	0.468										TSP Lung(6;0.00050)																																							0													73	70	71					3																	89259074		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.218T>A	3.37:g.89259074T>A	ENSP00000337451:p.Val73Asp		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.V73D	ENST00000336596.2	37	c.218	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178585	0.78564	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.04551	3.6;3.6;3.6	5.34	5.34	0.76211	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.26919	0.0659	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.995;1.0	T	0.06789	-1.0807	9	.	.	.	.	15.3238	0.74144	0.0:0.0:0.0:1.0	.	73;73	P29320;P29320-2	EPHA3_HUMAN;.	D	73	ENSP00000337451:V73D;ENSP00000399926:V73D;ENSP00000419190:V73D	.	V	+	2	0	EPHA3	89341764	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.040000	0.89188	2.020000	0.59435	0.460000	0.39030	GTC	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000044524		0.468	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	-	0	59	0	T	NM_005233		89259074	1	tier1	-	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	34.62	17	9	SNP	1.000	A	A	89259074	T	A	89259074	3	1	84	1	0	0	0	0	1	0	0	0	5184	1667	58	5	228	5	EPHA3	3	89259074	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	30403071	89259074	108763356	42	22237											
EPHA6	285220	genome.wustl.edu	37	chr3	97466312	97466312	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggaatatcctttgtttgtCacagttggtgactggctaga	8	14	11	8	1	1	2	1	1	0	1	2	3	2	3	2	3	0	3	2	3	3	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:97466312C>T	ENST00000389672.5	+	17	3212	c.3174C>T	c.(3172-3174)gtC>gtT	p.V1058V		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	964						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTTTGTTTGTCACAGTTGGTG	0.393																																																	0													97	88	91					3																	97466312		1846	4104	5950	SO:0001819	synonymous_variant	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3174C>T	3.37:g.97466312C>T			D6RAL5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V1058	ENST00000389672.5	37	c.3174	CCDS46876.1	3																																																																																			EPHA6	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000080224		0.393	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000353845.3	-	0	98	0	C	NM_001080448		97466312	1	tier1	-	no_errors	ENST00000389672	ensembl	human	known	74_37	silent	47.65	89	81	SNP	0.989	T	T	97466312	C	T	97466312	2	4	84	1	0	0	0	0	0	0	0	1	5187	813	29	3		3	EPHA6	3	97466312	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	8207238	97466312	100556118	43	22238											
C3orf52	79669	genome.wustl.edu	37	chr3	111831885	111831885	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaattttatgaagtataTgatgagtgaggagttggtgc	13	14	13	1	0	0	5	0	5	0	0	0	6	0	6	0	2	1	2	0	2	6	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:111831885T>G	ENST00000264848.5	+	5	601	c.542T>G	c.(541-543)aTg>aGg	p.M181R	C3orf52_ENST00000431717.2_Intron|C3orf52_ENST00000467942.2_3'UTR|C3orf52_ENST00000430855.1_Intron|MIR567_ENST00000385205.1_RNA	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	181						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATGAAGTATATGATGAGTGAG	0.423																																																	0													135	127	130					3																	111831885		1977	4171	6148	SO:0001583	missense	0			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"TPA induced trans-membrane protein"	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.542T>G	3.37:g.111831885T>G	ENSP00000264848:p.Met181Arg		B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Missense_Mutation	SNP	NULL	p.M181R	ENST00000264848.5	37	c.542	CCDS46887.1	3	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128565	0.77549	.	.	ENSG00000114529	ENST00000264848	T	0.23754	1.89	5.83	5.83	0.93111	.	0.161726	0.53938	D	0.000045	T	0.33614	0.0869	M	0.64997	1.995	0.80722	D	1	D	0.53151	0.958	P	0.51229	0.663	T	0.11665	-1.0578	10	0.10377	T	0.69	.	12.6059	0.56523	0.0:0.0:0.0:1.0	.	181	Q5BVD1	TTMP_HUMAN	R	181	ENSP00000264848:M181R	ENSP00000264848:M181R	M	+	2	0	C3orf52	113314575	0.998000	0.40836	0.986000	0.45419	0.947000	0.59692	0.536000	0.23129	2.224000	0.72417	0.528000	0.53228	ATG	C3orf52	-	NULL	ENSG00000114529		0.423	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf52	HGNC	protein_coding	OTTHUMT00000353961.1	-	0	42	0	T	NM_024616		111831885	1	tier1	-	no_errors	ENST00000264848	ensembl	human	known	74_37	missense	23.29	56	17	SNP	0.994	G	G	111831885	T	G	111831885	3	3	84	1	0	0	0	0	1	0	0	0	2239	1464	51	4	560	4	C3orf52	3	111831885	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	14365573	111831885	86190545	44	22239											
ATP6V1A	523	genome.wustl.edu	37	chr3	113517250	113517250	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctaaggaaattctgcAggaagaagaagacctggcag	17	5	13	6	0	1	3	0	0	1	3	1	6	1	5	1	3	2	3	1	3	6	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:113517250A>T	ENST00000273398.3	+	12	1559	c.1451A>T	c.(1450-1452)cAg>cTg	p.Q484L	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.Q451L	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	484					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GAAATTCTGCAGGAAGAAGAA	0.438																																																	0													101	99	100					3																	113517250		2203	4300	6503	SO:0001583	missense	0			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"ATPases / V-type"	851	protein-coding gene	gene with protein product		607027	"ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.1451A>T	3.37:g.113517250A>T	ENSP00000273398:p.Gln484Leu		B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu	p.Q484L	ENST00000273398.3	37	c.1451	CCDS2976.1	3	.	.	.	.	.	.	.	.	.	.	A	28.4	4.919452	0.92249	.	.	ENSG00000114573	ENST00000545842;ENST00000273398;ENST00000538620	T;T	0.78924	-1.22;-1.22	4.92	4.92	0.64577	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);ATPase, F1 complex beta subunit/V1 complex, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	M	0.93420	3.415	0.80722	D	1	D	0.55800	0.973	P	0.58013	0.831	D	0.91950	0.5570	10	0.66056	D	0.02	-10.6285	14.8467	0.70264	1.0:0.0:0.0:0.0	.	484	P38606	VATA_HUMAN	L	201;484;451	ENSP00000273398:Q484L;ENSP00000439874:Q451L	ENSP00000273398:Q484L	Q	+	2	0	ATP6V1A	114999940	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.886000	0.92447	1.979000	0.57680	0.454000	0.30748	CAG	ATP6V1A	-	pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_asu	ENSG00000114573		0.438	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1A	HGNC	protein_coding	OTTHUMT00000354457.1	-	0	45	0	A	NM_001690		113517250	1	tier1	-	no_errors	ENST00000273398	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	113517250	A	T	113517250	3	4	84	1	0	0	0	0	1	0	0	0	1178	188	7	5	1493	5	ATP6V1A	3	113517250	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	1685365	113517250	84505180	45	22240											
PARP9	83666	genome.wustl.edu	37	chr3	122274685	122274685	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggccagggccaggcctccCccatgcagaagatcttcatt	9	7	11	14	0	2	2	1	0	1	2	3	2	3	2	5	3	1	1	5	3	1	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:122274685C>T	ENST00000360356.2	-	4	665	c.438G>A	c.(436-438)ggG>ggA	p.G146G	PARP9_ENST00000462315.1_Silent_p.G111G|PARP9_ENST00000471785.1_Silent_p.G111G|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000477522.2_Silent_p.G111G	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	146	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CCAGGCCTCCCCCATGCAGAA	0.488																																																	0													94	91	92					3																	122274685		2203	4300	6503	SO:0001819	synonymous_variant	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.438G>A	3.37:g.122274685C>T			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.G146	ENST00000360356.2	37	c.438	CCDS3014.1	3																																																																																			PARP9	-	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	ENSG00000138496		0.488	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	-	0	14	0	C	NM_031458		122274685	-1	tier1	-	no_errors	ENST00000360356	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.000	T	T	122274685	C	T	122274685	2	4	84	1	0	0	0	0	0	0	0	1	11505	610	22	3		3	PARP9	3	122274685	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	8757435	122274685	75747745	46	22241											
COL6A5	256076	genome.wustl.edu	37	chr3	130119948	130119948	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctagctttgaatttggaaaAagattcgattacaggactca	14	13	8	6	1	2	2	1	1	1	1	3	5	2	4	0	2	2	1	0	2	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:130119948A>C	ENST00000432398.2	+	11	4559	c.4065A>C	c.(4063-4065)aaA>aaC	p.K1355N	COL6A5_ENST00000265379.6_Missense_Mutation_p.K1355N	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1355	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AATTTGGAAAAAGATTCGATT	0.393																																																	0													164	141	148					3																	130119948		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4065A>C	3.37:g.130119948A>C	ENSP00000390895:p.Lys1355Asn		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K1355N	ENST00000432398.2	37	c.4065		3	.	.	.	.	.	.	.	.	.	.	A	12.53	1.964897	0.34659	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.90324	-2.56;-2.65	5.41	2.93	0.34026	.	.	.	.	.	D	0.92977	0.7765	M	0.61703	1.905	0.23765	N	0.9969	D	0.69078	0.997	D	0.69307	0.963	D	0.84284	0.0496	9	0.48119	T	0.1	.	8.759	0.34663	0.8324:0.0:0.1676:0.0	.	1355	A8TX70-2	.	N	1355	ENSP00000390895:K1355N;ENSP00000265379:K1355N	ENSP00000265379:K1355N	K	+	3	2	COL6A5	131602638	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	2.056000	0.41355	0.328000	0.23435	0.459000	0.35465	AAA	COL6A5	-	NULL	ENSG00000172752		0.393	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	69	0	A	NM_153264		130119948	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	53.73	62	72	SNP	1.000	C	C	130119948	A	C	130119948	3	2	84	1	0	0	0	0	1	0	0	0	3709	11	1	4	4103	4	COL6A5	3	130119948	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	7845263	130119948	67902482	47	22242											
AGTR1	185	genome.wustl.edu	37	chr3	148459671	148459671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatattgtggacacggcCatgcctatcaccatttgtat	10	12	9	10	1	1	1	1	0	0	1	1	2	1	2	3	2	1	2	3	2	3	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:148459671C>T	ENST00000497524.1	+	2	1240	c.849C>T	c.(847-849)gcC>gcT	p.A283A	AGTR1_ENST00000404754.2_Silent_p.A283A|AGTR1_ENST00000474935.1_Silent_p.A283A|AGTR1_ENST00000349243.3_Silent_p.A283A|AGTR1_ENST00000402260.1_Silent_p.A283A|AGTR1_ENST00000461609.1_Silent_p.A283A|AGTR1_ENST00000542281.1_Silent_p.A283A|AGTR1_ENST00000418473.2_Silent_p.A283A|AGTR1_ENST00000475347.1_Silent_p.A283A	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	283					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TGGACACGGCCATGCCTATCA	0.368																																																	0													103	96	99					3																	148459671		2203	4300	6503	SO:0001819	synonymous_variant	0			M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"GPCR / Class A : Angiotensin receptors"	336	protein-coding gene	gene with protein product		106165	"angiotensin receptor 1B"	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.849C>T	3.37:g.148459671C>T			Q13725|Q8TBK4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Formyl_pep_rcpt,prints_Brdyknn_rcpt	p.A283	ENST00000497524.1	37	c.849	CCDS3137.1	3																																																																																			AGTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_Chemokine_rcpt	ENSG00000144891		0.368	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGTR1	HGNC	protein_coding	OTTHUMT00000355807.1	-	0	46	0	C			148459671	1	tier1	-	no_errors	ENST00000349243	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	148459671	C	T	148459671	2	4	84	1	0	0	0	0	0	0	0	1	401	581	21	3		3	AGTR1	3	148459671	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	18339723	148459671	49562759	48	22243											
TRIM59	286827	genome.wustl.edu	37	chr3	160156367	160156368	+	Frame_Shift_Ins	INS	-	-	T																															acagagagccgttaggaaacINSttttttttttctgttctaat																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:160156367_160156368insT	ENST00000309784.4	-	3	789_790	c.604_605insA	c.(604-606)agtfs	p.S202fs	TRIM59_ENST00000543469.1_Frame_Shift_Ins_p.S202fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CGTTAGGAAACTTTTTTTTTTC	0.342																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	30834	protein-coding gene	gene with protein product			"tripartite motif-containing 57", "tripartite motif-containing 59"	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.605dupA	3.37:g.160156377_160156377dupT	ENSP00000311219:p.Ser202fs		A8K5G9|D3DNL9	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S202fs	ENST00000309784.4	37	c.605_604	CCDS3190.1	3																																																																																			RP11-432B6.3	-	NULL	ENSG00000248710		0.342	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	Clone_based_vega_gene	protein_coding	OTTHUMT00000352963.1		0	15	0	-	NM_173084		160156368	-1	tier1		no_errors	ENST00000483754	ensembl	human	known	74_37	frame_shift_ins	15.62	27	5	INS	0.000:0.000	T	T	160156368	-	T	160156367	7	5	84	1	0	1	1	0	0	0	0	0	16580	565	20	0	610	0	TRIM59	3	160156367	Frame_Shift_Ins	INS	-	TCGA-L5-A8NJ-01A-11D-A36J-09	11696696	160156367	37866063	49	22244											
SI	6476	genome.wustl.edu	37	chr3	164710142	164710142	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataaatgctggaccccataAgaactgcttgaatatatccc	14	10	6	11	0	0	2	0	1	0	1	1	3	1	3	3	1	3	2	3	1	7	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:164710142A>C	ENST00000264382.3	-	42	4947	c.4885T>G	c.(4885-4887)Tta>Gta	p.L1629V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1629	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGACCCCATAAGAACTGCTTG	0.323										HNSCC(35;0.089)																																							0													56	57	57					3																	164710142		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4885T>G	3.37:g.164710142A>C	ENSP00000264382:p.Leu1629Val		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L1629V	ENST00000264382.3	37	c.4885	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261599	0.59431	.	.	ENSG00000090402	ENST00000264382	D	0.92858	-3.12	4.88	-2.72	0.05968	.	0.000000	0.64402	D	0.000002	D	0.96100	0.8729	H	0.94698	3.57	0.36563	D	0.872525	D	0.69078	0.997	D	0.69479	0.964	D	0.96214	0.9155	10	0.87932	D	0	.	12.6259	0.56630	0.4822:0.0:0.5178:0.0	.	1629	P14410	SUIS_HUMAN	V	1629	ENSP00000264382:L1629V	ENSP00000264382:L1629V	L	-	1	2	SI	166192836	0.998000	0.40836	0.363000	0.25875	0.878000	0.50629	0.522000	0.22909	-0.294000	0.08973	0.533000	0.62120	TTA	SI	-	pfam_Glyco_hydro_31	ENSG00000090402		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	148	0	A	NM_001041		164710142	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	19.40	162	39	SNP	0.727	C	C	164710142	A	C	164710142	3	2	84	1	0	0	0	0	1	0	0	0	14342	69	3	4	626	4	SI	3	164710142	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	4553775	164710142	33312288	50	22245											
TBL1XR1	79718	genome.wustl.edu	37	chr3	176771694	176771694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctataccaaaggtaaatgctGaatgagaaaatcctaaaaac	20	8	6	7	0	0	2	0	2	0	1	1	3	1	2	2	1	3	2	2	1	11	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:176771694G>A	ENST00000430069.1	-	4	330	c.71C>T	c.(70-72)tCa>tTa	p.S24L	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.S24L			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	24	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GGTAAATGCTGAATGAGAAAA	0.378																																																	0													80	77	78					3																	176771694		1849	4098	5947	SO:0001583	missense	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.71C>T	3.37:g.176771694G>A	ENSP00000405574:p.Ser24Leu		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S24L	ENST00000430069.1	37	c.71	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.295954	0.95574	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000352800;ENST00000437738;ENST00000450267;ENST00000431674;ENST00000422066;ENST00000443315;ENST00000422442;ENST00000427349;ENST00000413084	T;T;T;T;T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.32	5.32	0.75619	LisH dimerisation motif (2);LisH dimerisation motif, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93461	0.6810	10	0.87932	D	0	-6.6605	18.3675	0.90397	0.0:0.0:1.0:0.0	.	24	Q9BZK7	TBL1R_HUMAN	L	24	ENSP00000405574:S24L;ENSP00000413251:S24L;ENSP00000263964:S24L;ENSP00000392180:S24L;ENSP00000406297:S24L;ENSP00000397450:S24L;ENSP00000398477:S24L;ENSP00000396120:S24L;ENSP00000387849:S24L;ENSP00000401044:S24L;ENSP00000415506:S24L	ENSP00000263964:S24L	S	-	2	0	TBL1XR1	178254388	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.660000	0.90430	0.655000	0.94253	TCA	TBL1XR1	-	pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000177565		0.378	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	-	0	49	0	G	NM_024665		176771694	-1	tier1	-	no_errors	ENST00000430069	ensembl	human	known	74_37	missense	40.00	50	34	SNP	1.000	A	A	176771694	G	A	176771694	3	1	84	1	0	0	0	0	1	0	0	0	15687	1294	45	3	1525	3	TBL1XR1	3	176771694	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	12061552	176771694	21250736	51	22246											
CCDC39	339829	genome.wustl.edu	37	chr3	180361933	180361933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaacctttggctttatcaAgttctttctctgatctgtcg	8	18	6	9	1	4	1	1	1	3	0	6	1	4	1	1	1	1	2	1	1	4	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:180361933A>C	ENST00000442201.2	-	12	1759	c.1640T>G	c.(1639-1641)cTt>cGt	p.L547R	CCDC39_ENST00000273654.4_Missense_Mutation_p.L631R	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	547					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)		p.L631R(1)|p.L547R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GGCTTTATCAAGTTCTTTCTC	0.308																																																	2	Substitution - Missense(2)	large_intestine(2)											160	145	150					3																	180361933		1488	3303	4791	SO:0001583	missense	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1640T>G	3.37:g.180361933A>C	ENSP00000405708:p.Leu547Arg		B4E2H1	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.L547R	ENST00000442201.2	37	c.1640	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398410	0.42512	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.22945	1.93;1.93	5.56	5.56	0.83823	.	0.162313	0.41396	D	0.000899	T	0.44222	0.1283	L	0.59436	1.845	0.42547	D	0.993096	D	0.71674	0.998	P	0.60541	0.876	T	0.36768	-0.9734	10	0.56958	D	0.05	-5.8948	15.0019	0.71479	1.0:0.0:0.0:0.0	.	547	Q9UFE4	CCD39_HUMAN	R	631;547	ENSP00000273654:L631R;ENSP00000405708:L547R	ENSP00000273654:L631R	L	-	2	0	CCDC39	181844627	0.999000	0.42202	0.926000	0.36857	0.128000	0.20619	5.752000	0.68728	2.240000	0.73641	0.533000	0.62120	CTT	CCDC39	-	NULL	ENSG00000145075		0.308	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0	46	0	A	XM_291028		180361933	-1	tier1	-	no_errors	ENST00000442201	ensembl	human	known	74_37	missense	23.89	86	27	SNP	0.978	C	C	180361933	A	C	180361933	3	2	84	1	0	0	0	0	1	0	0	0	2818	72	3	4	1221	4	CCDC39	3	180361933	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	3590239	180361933	17660497	52	22247											
CHRD	8646	genome.wustl.edu	37	chr3	184103918	184103918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgatgatcaccaccaagGgtagccccagaggggagctc	10	5	12	14	0	1	3	1	2	0	1	2	4	1	4	5	3	2	2	5	3	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:184103918G>T	ENST00000204604.1	+	15	2149	c.1903G>T	c.(1903-1905)Ggt>Tgt	p.G635C	CHRD_ENST00000545352.1_Missense_Mutation_p.G265C|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.G635C|CHRD_ENST00000348986.3_Missense_Mutation_p.G595C	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	635	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACCACCAAGGGTAGCCCCAG	0.647																																																	0													70	72	71					3																	184103918		2203	4300	6503	SO:0001583	missense	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1903G>T	3.37:g.184103918G>T	ENSP00000204604:p.Gly635Cys		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.G635C	ENST00000204604.1	37	c.1903	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	G	13.57	2.278023	0.40294	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.68	1.8	0.24995	CHRD (3);	0.301525	0.34507	N	0.003914	T	0.44307	0.1287	L	0.38175	1.15	0.27506	N	0.951821	P;D;P;D	0.63046	0.947;0.99;0.909;0.992	P;P;P;P	0.62813	0.84;0.789;0.799;0.907	T	0.21211	-1.0252	10	0.54805	T	0.06	-6.624	5.4538	0.16580	0.2705:0.149:0.5805:0.0	.	265;595;635;635	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	C	635;635;595;265;348	ENSP00000204604:G635C;ENSP00000408972:G635C;ENSP00000334036:G595C;ENSP00000442948:G265C	ENSP00000204604:G635C	G	+	1	0	CHRD	185586612	0.999000	0.42202	0.958000	0.39756	0.515000	0.34225	1.111000	0.31159	0.508000	0.28173	0.655000	0.94253	GGT	CHRD	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD	ENSG00000090539		0.647	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1		0	17	0	G	NM_003741		184103918	1			no_errors	ENST00000204604	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.793	T	T	184103918	G	T	184103918	3	4	84	1	0	0	0	0	1	0	0	0	3379	1232	43	3	1961	3	CHRD	3	184103918	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3741985	184103918	13918512	53	22248											
DGKG	1608	genome.wustl.edu	37	chr3	185986619	185986619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccacacgcagtgccgcgCggtgacactctggtagcact	8	6	12	15	4	1	1	0	1	1	0	1	1	1	1	2	2	2	4	2	2	1	1	rs574769788		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:185986619C>T	ENST00000265022.3	-	12	1626	c.1087G>A	c.(1087-1089)Gcg>Acg	p.A363T	DGKG_ENST00000382164.4_Intron|DGKG_ENST00000544847.1_Intron|DGKG_ENST00000344484.4_Missense_Mutation_p.A363T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	363					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CAGTGCCGCGCGGTGACACTC	0.607													C|||	1	0.000199681	0	0.0014	5008	,	,		19500	0		0	False		,,,				2504	0																0													77	59	65					3																	185986619		2203	4300	6503	SO:0001583	missense	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1087G>A	3.37:g.185986619C>T	ENSP00000265022:p.Ala363Thr		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A363T	ENST00000265022.3	37	c.1087	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.123312	0.94429	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000437018	D;D;D	0.84800	-1.9;-1.9;-1.9	5.16	4.24	0.50183	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.064498	0.64402	D	0.000013	D	0.83866	0.5347	L	0.45352	1.415	0.80722	D	1	D;D	0.61697	0.973;0.99	P;P	0.48704	0.587;0.565	D	0.86261	0.1655	10	0.87932	D	0	.	14.6577	0.68847	0.1452:0.8548:0.0:0.0	.	363;363	P49619-2;P49619	.;DGKG_HUMAN	T	363;363;114	ENSP00000265022:A363T;ENSP00000339777:A363T;ENSP00000395526:A114T	ENSP00000265022:A363T	A	-	1	0	DGKG	187469313	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.645000	0.67909	2.590000	0.87494	0.563000	0.77884	GCG	DGKG	-	smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000058866		0.607	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3		0	35	0	C			185986619	-1			no_errors	ENST00000265022	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	185986619	C	T	185986619	3	4	84	1	0	0	0	0	1	0	0	0	4483	768	27	1	1344	1	DGKG	3	185986619	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1882701	185986619	12035811	54	22249											
BCL6	604	genome.wustl.edu	37	chr3	187447231	187447231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccttccggttcaggggtGcattggggggctcgaaatgc	6	9	16	10	2	1	0	1	0	0	0	3	2	2	0	2	6	2	3	2	6	1	3	rs377059215		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr3:187447231G>A	ENST00000406870.2	-	5	1328	c.962C>T	c.(961-963)gCa>gTa	p.A321V	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321V|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTCAGGGGTGCATTGGGGGG	0.577			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0								G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	86	101	96		962,962,962	5.5	1	3		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	321/707,321/651,321/707	187447231	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.962C>T	3.37:g.187447231G>A	ENSP00000384371:p.Ala321Val		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A321V	ENST00000406870.2	37	c.962	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638326	0.47153	0.0	1.16E-4	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08193	3.12;3.12;3.13	5.48	5.48	0.80851	.	0.097709	0.64402	D	0.000001	T	0.07188	0.0182	N	0.22421	0.69	0.37546	D	0.918492	B;P	0.35745	0.437;0.518	B;B	0.27380	0.037;0.079	T	0.30851	-0.9964	10	0.51188	T	0.08	.	18.7147	0.91671	0.0:0.0:1.0:0.0	.	321;321	B8PSA7;P41182	.;BCL6_HUMAN	V	321	ENSP00000384371:A321V;ENSP00000232014:A321V;ENSP00000413122:A321V	ENSP00000232014:A321V	A	-	2	0	BCL6	188929925	1.000000	0.71417	0.978000	0.43139	0.977000	0.68977	7.051000	0.76627	2.747000	0.94245	0.462000	0.41574	GCA	BCL6	-	NULL	ENSG00000113916		0.577	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1		0	35	0	G	NM_138931		187447231	-1			no_errors	ENST00000232014	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.989	A	A	187447231	G	A	187447231	3	1	84	1	0	0	0	0	1	0	0	0	1377	1319	46	3	1182	3	BCL6	3	187447231	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1460612	187447231	10575199	55	22250											
HTT	3064	genome.wustl.edu	37	chr4	3231719	3231719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagaagacgagatcctcGctcagtacctggtgcctgcc	8	9	10	14	2	2	3	2	0	0	3	4	4	3	3	4	1	3	2	4	1	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:3231719G>A	ENST00000355072.5	+	60	8360	c.8215G>A	c.(8215-8217)Gct>Act	p.A2739T	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2739					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGAGATCCTCGCTCAGTACCT	0.577																																																	0													90	93	92					4																	3231719		2152	4264	6416	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"Endogenous ligands"	4851	protein-coding gene	gene with protein product		613004	"huntingtin (Huntington disease)"	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.8215G>A	4.37:g.3231719G>A	ENSP00000347184:p.Ala2739Thr		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.A2739T	ENST00000355072.5	37	c.8215	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	8.013	0.757926	0.15846	.	.	ENSG00000197386	ENST00000355072	T	0.69175	-0.38	4.82	-9.64	0.00541	.	0.596334	0.16149	N	0.227371	T	0.29652	0.0740	N	0.04508	-0.205	0.09310	N	1	B	0.26318	0.146	B	0.16289	0.015	T	0.27606	-1.0069	10	0.09843	T	0.71	.	10.9952	0.47571	0.5094:0.304:0.1866:0.0	.	2739	P42858	HD_HUMAN	T	2739	ENSP00000347184:A2739T	ENSP00000347184:A2739T	A	+	1	0	HTT	3201517	0.000000	0.05858	0.000000	0.03702	0.751000	0.42716	-0.447000	0.06828	-2.607000	0.00447	-0.136000	0.14681	GCT	HTT	-	NULL	ENSG00000197386		0.577	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0	33	0	G	NM_002111		3231719	1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.000	A	A	3231719	G	A	3231719	3	1	84	1	0	0	0	0	1	0	0	0	7484	1087	38	1	8453	1	HTT	4	3231719	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09		3231719	187922557	56	22251											
GABRA2	2555	genome.wustl.edu	37	chr4	46252427	46252427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactattctggacattctGtcaattttgctaacactgtt	12	16	5	8	0	3	0	1	0	2	0	3	1	3	1	0	1	3	2	0	1	5	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:46252427G>C	ENST00000510861.1	-	10	1427	c.1254C>G	c.(1252-1254)gaC>gaG	p.D418E	GABRA2_ENST00000356504.1_Missense_Mutation_p.D418E|GABRA2_ENST00000507069.1_Missense_Mutation_p.D478E|GABRA2_ENST00000514090.1_Missense_Mutation_p.D418E|GABRA2_ENST00000540012.1_Missense_Mutation_p.D423E|GABRA2_ENST00000381620.4_Missense_Mutation_p.D418E			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	418					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGGACATTCTGTCAATTTTGC	0.403																																																	0													177	179	178					4																	46252427		2203	4299	6502	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1254C>G	4.37:g.46252427G>C	ENSP00000421828:p.Asp418Glu		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D423E	ENST00000510861.1	37	c.1269	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	G	17.65	3.440947	0.63067	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	5.96	1.33	0.21861	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.84511	2.7	0.48511	D	0.999667	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	D	0.98505	1.0616	10	0.87932	D	0	.	10.166	0.42879	0.3221:0.0:0.6779:0.0	.	423;418	B7Z1H8;P47869	.;GBRA2_HUMAN	E	418;418;418;418;423;478	ENSP00000421828:D418E;ENSP00000421300:D418E;ENSP00000371033:D418E;ENSP00000348897:D418E;ENSP00000444409:D423E;ENSP00000427603:D478E	ENSP00000348897:D418E	D	-	3	2	GABRA2	45947184	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.016000	0.49607	0.141000	0.18875	0.655000	0.94253	GAC	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000151834		0.403	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0	72	0	G			46252427	-1	tier1	-	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	44.64	31	25	SNP	1.000	C	C	46252427	G	C	46252427	3	2	84	1	0	0	0	0	1	0	0	0	6185	1368	48	5	105	5	GABRA2	4	46252427	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	43020708	46252427	144901849	57	22252											
RASGEF1B	153020	genome.wustl.edu	37	chr4	82368696	82368696	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccttctgcacgaacgcctGaacaaattcttctggcccaa	10	10	7	14	2	3	1	0	1	3	0	4	2	4	1	3	1	3	1	3	1	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:82368696G>A	ENST00000264400.2	-	6	842	c.691C>T	c.(691-693)Cag>Tag	p.Q231*	RASGEF1B_ENST00000509081.1_Nonsense_Mutation_p.Q230*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.Q189*	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	231	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACGAACGCCTGAACAAATTCT	0.403																																																	0													82	77	79					4																	82368696		2203	4300	6503	SO:0001587	stop_gained	0			AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.691C>T	4.37:g.82368696G>A	ENSP00000264400:p.Gln231*		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Q231*	ENST00000264400.2	37	c.691	CCDS34022.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.586909	0.96578	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	18.107	0.89523	0.0:0.0:1.0:0.0	.	.	.	.	X	230;231;189;76	.	ENSP00000264400:Q231X	Q	-	1	0	RASGEF1B	82587720	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.157000	0.94714	2.606000	0.88127	0.655000	0.94253	CAG	RASGEF1B	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000138670		0.403	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASGEF1B	HGNC	protein_coding	OTTHUMT00000362830.1		0	56	0	G	NM_152545		82368696	-1			no_errors	ENST00000264400	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	A	A	82368696	G	A	82368696	4	1	84	1	0	0	0	0	0	1	0	0	13115	1299	45	3	766	3	RASGEF1B	4	82368696	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	36116269	82368696	108785580	58	22253											
ABCG2	9429	genome.wustl.edu	37	chr4	89034590	89034590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcttctcacccccGgaaagttgatgtaattcagc	8	15	6	12	1	5	1	2	1	4	0	6	2	5	2	2	1	1	2	2	1	2	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:89034590G>A	ENST00000237612.3	-	9	1604	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	ABCG2_ENST00000515655.1_Silent_p.S353S	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	353					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S353S(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TCTCACCCCCGGAAAGTTGAT	0.428																																																	2	Substitution - coding silent(2)	breast(2)											152	154	153					4																	89034590		2203	4300	6503	SO:0001819	synonymous_variant	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1059C>T	4.37:g.89034590G>A			A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S353	ENST00000237612.3	37	c.1059	CCDS3628.1	4																																																																																			ABCG2	-	NULL	ENSG00000118777		0.428	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1		0	45	0	G	NM_004827		89034590	-1			no_errors	ENST00000237612	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.000	A	A	89034590	G	A	89034590	2	1	84	1	0	0	0	0	0	0	0	1	69	1103	39	1		1	ABCG2	4	89034590	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	6665894	89034590	102119686	59	22254											
PRDM5	11107	genome.wustl.edu	37	chr4	121698357	121698357	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctgtgtggctccggAtatgaactctgagtgtacca	9	11	10	11	1	1	2	0	2	1	0	2	3	2	3	4	2	3	2	4	2	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:121698357A>T	ENST00000264808.3	-	13	1763	c.1523T>A	c.(1522-1524)aTc>aAc	p.I508N	PRDM5_ENST00000428209.2_Missense_Mutation_p.I477N|PRDM5_ENST00000515109.1_Missense_Mutation_p.I477N	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	508					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGGCTCCGGATATGAACTCT	0.373																																																	0													145	134	138					4																	121698357		2203	4300	6503	SO:0001583	missense	0			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"Zinc fingers, C2H2-type"	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1523T>A	4.37:g.121698357A>T	ENSP00000264808:p.Ile508Asn		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.I508N	ENST00000264808.3	37	c.1523	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234407	0.58886	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.29917	2.06;1.55;2.06	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.049859	0.85682	D	0.000000	T	0.42921	0.1224	L	0.28054	0.825	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.998	P;D;D	0.72338	0.823;0.977;0.948	T	0.40136	-0.9579	10	0.59425	D	0.04	-16.0273	15.365	0.74513	1.0:0.0:0.0:0.0	.	477;477;508	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	N	508;477;477	ENSP00000264808:I508N;ENSP00000422309:I477N;ENSP00000404832:I477N	ENSP00000264808:I508N	I	-	2	0	PRDM5	121917807	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	8.977000	0.93446	2.032000	0.59987	0.533000	0.62120	ATC	PRDM5	-	smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2	ENSG00000138738		0.373	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	-	0	58	0	A			121698357	-1	tier1	-	no_errors	ENST00000264808	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	121698357	A	T	121698357	3	4	84	1	0	0	0	0	1	0	0	0	12502	333	12	5	385	5	PRDM5	4	121698357	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	32663767	121698357	69455919	60	22255											
NR3C2	4306	genome.wustl.edu	37	chr4	149356787	149356787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctatttcctcctagacatGagctgctaaaagctccatct	10	13	6	12	0	1	2	0	1	1	1	4	2	4	2	3	0	4	4	3	0	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:149356787G>A	ENST00000358102.3	-	2	1588	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L	NR3C2_ENST00000355292.3_Missense_Mutation_p.S409L|NR3C2_ENST00000511528.1_Missense_Mutation_p.S409L|NR3C2_ENST00000344721.4_Missense_Mutation_p.S409L|NR3C2_ENST00000512865.1_Missense_Mutation_p.S409L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	409	Modulating.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TCCTAGACATGAGCTGCTAAA	0.398																																					Melanoma(27;428 957 40335 51025 51111)												0													87	91	89					4																	149356787		2203	4300	6503	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"Nuclear hormone receptors"	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.1226C>T	4.37:g.149356787G>A	ENSP00000350815:p.Ser409Leu		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S409L	ENST00000358102.3	37	c.1226	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050855	0.36181	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000544252;ENST00000342437;ENST00000511528	D;D;D;D;D;D	0.90069	-2.6;-2.61;-2.6;-2.2;-2.2;-2.61	5.16	5.16	0.70880	.	0.163089	0.53938	D	0.000042	T	0.80059	0.4554	N	0.14661	0.345	0.42336	D	0.992311	B;B	0.32350	0.172;0.366	B;B	0.27500	0.035;0.08	T	0.77579	-0.2535	9	.	.	.	.	19.009	0.92865	0.0:0.0:1.0:0.0	.	409;409	B0ZBF5;B0ZBF6	.;.	L	409	ENSP00000341390:S409L;ENSP00000347441:S409L;ENSP00000350815:S409L;ENSP00000423510:S409L;ENSP00000343907:S409L;ENSP00000421481:S409L	.	S	-	2	0	NR3C2	149576237	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	6.842000	0.75379	2.564000	0.86499	0.655000	0.94253	TCA	NR3C2	-	NULL	ENSG00000151623		0.398	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1		0	42	0	G			149356787	-1			no_errors	ENST00000355292	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.997	A	A	149356787	G	A	149356787	3	1	84	1	0	0	0	0	1	0	0	0	10670	1294	45	3	1760	3	NR3C2	4	149356787	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	27658430	149356787	41797489	61	22256											
GRIA2	2891	genome.wustl.edu	37	chr4	158284035	158284035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggtttggcaatgctggtgGctttgattgagttctgttac	5	18	13	5	0	1	2	0	2	1	0	1	2	1	2	0	4	2	6	0	4	2	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:158284035G>T	ENST00000264426.9	+	15	2770	c.2491G>T	c.(2491-2493)Gct>Tct	p.A831S	GRIA2_ENST00000507898.1_Missense_Mutation_p.A784S|GRIA2_ENST00000393815.2_Missense_Mutation_p.A784S|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.A831S|GRIA2_ENST00000449365.1_Missense_Mutation_p.A784S	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	831					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A831T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AATGCTGGTGGCTTTGATTGA	0.468																																																	2	Substitution - Missense(2)	lung(2)											150	135	140					4																	158284035		2203	4300	6503	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2491G>T	4.37:g.158284035G>T	ENSP00000264426:p.Ala831Ser		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A831S	ENST00000264426.9	37	c.2491	CCDS43274.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.306178|4.306178	0.81247|0.81247	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.15603|.	2.41;2.41;2.46;2.45;2.41|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83857|0.83857	0.5345|0.5345	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.994|.	D;D;D|.	0.85130|.	0.994;0.997;0.97|.	D|D	0.83604|0.83604	0.0130|0.0130	10|5	0.87932|.	D|.	0|.	.|.	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	831;831;784|.	P42262;P42262-2;A8MT92|.	GRIA2_HUMAN;.;.|.	S|V	784;784;831;831;784|161	ENSP00000426845:A784S;ENSP00000377403:A784S;ENSP00000296526:A831S;ENSP00000264426:A831S;ENSP00000389837:A784S|.	ENSP00000264426:A831S|.	A|G	+|+	1|2	0|0	GRIA2|GRIA2	158503485|158503485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GCT|GGC	GRIA2	-	prints_NMDA_rcpt	ENSG00000120251		0.468	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2	-	0	96	0	G			158284035	1	tier1	-	no_errors	ENST00000264426	ensembl	human	known	74_37	missense	25.97	57	20	SNP	1.000	T	T	158284035	G	T	158284035	3	4	84	1	0	0	0	0	1	0	0	0	6795	1203	42	3	2668	3	GRIA2	4	158284035	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	8927248	158284035	32870241	62	22257											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160265191	160265191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggctctcacttacaggaaGaagaaatggcggagtttggg	12	9	14	6	1	1	2	1	0	1	2	2	4	1	4	0	5	1	2	0	5	4	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:160265191G>A	ENST00000264431.4	+	17	3194	c.2775G>A	c.(2773-2775)aaG>aaA	p.K925K		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	925	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTTACAGGAAGAAGAAATGGC	0.433																																																	0													151	141	144					4																	160265191		1902	4122	6024	SO:0001819	synonymous_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2775G>A	4.37:g.160265191G>A			D3DP27	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.K925	ENST00000264431.4	37	c.2775	CCDS43277.1	4																																																																																			RAPGEF2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000109756		0.433	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0	64	0	G	NM_014247		160265191	1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	silent	36.84	36	21	SNP	1.000	A	A	160265191	G	A	160265191	2	1	84	1	0	0	0	0	0	0	0	1	13089	933	33	3		3	RAPGEF2	4	160265191	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1981156	160265191	30889085	63	22258											
DDX60	55601	genome.wustl.edu	37	chr4	169157430	169157430	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaactcgaagtgtgcAtcttggaactttggtggaaa	13	12	11	5	1	1	1	0	1	1	0	2	4	1	3	0	3	3	1	0	3	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:169157430A>T	ENST00000393743.3	-	33	4797	c.4506T>A	c.(4504-4506)gaT>gaA	p.D1502E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1502					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CGAAGTGTGCATCTTGGAACT	0.318																																																	0													93	90	91					4																	169157430		2201	4297	6498	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4506T>A	4.37:g.169157430A>T	ENSP00000377344:p.Asp1502Glu		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D1502E	ENST00000393743.3	37	c.4506	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.546986	0.00926	.	.	ENSG00000137628	ENST00000393743	T	0.15372	2.43	4.65	-7.91	0.01165	.	0.872830	0.09999	N	0.728708	T	0.03348	0.0097	N	0.02960	-0.455	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31971	-0.9924	10	0.02654	T	1	.	1.6383	0.02747	0.1359:0.196:0.2082:0.4599	.	1502	Q8IY21	DDX60_HUMAN	E	1502	ENSP00000377344:D1502E	ENSP00000377344:D1502E	D	-	3	2	DDX60	169394005	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	-2.077000	0.01371	-1.724000	0.01373	0.455000	0.32223	GAT	DDX60	-	NULL	ENSG00000137628		0.318	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	-	0	53	0	A	NM_017631		169157430	-1	tier1	-	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	169157430	A	T	169157430	3	4	84	1	0	0	0	0	1	0	0	0	4387	214	8	5	656	5	DDX60	4	169157430	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	8892239	169157430	21996846	64	22259											
TRIML1	339976	genome.wustl.edu	37	chr4	189068495	189068495	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacaaacacagaccctcTcaccatctgctcactgaaca	13	6	7	15	0	3	2	2	1	2	1	4	3	3	3	2	2	3	1	2	2	2	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr4:189068495T>A	ENST00000332517.3	+	6	1516	c.1376T>A	c.(1375-1377)cTc>cAc	p.L459H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	459	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L459P(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACAGACCCTCTCACCATCTGC	0.562																																					Melanoma(31;213 1036 16579 23968 32372)												1	Substitution - Missense(1)	central_nervous_system(1)											48	50	50					4																	189068495		2203	4300	6503	SO:0001583	missense	0			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"RING-type (C3HC4) zinc fingers"	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1376T>A	4.37:g.189068495T>A	ENSP00000327738:p.Leu459His		Q96BE5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.L459H	ENST00000332517.3	37	c.1376	CCDS3851.1	4	.	.	.	.	.	.	.	.	.	.	t	13.73	2.324985	0.41197	.	.	ENSG00000184108	ENST00000332517	T	0.71341	-0.56	5.45	5.45	0.79879	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.46442	D	0.000281	D	0.84889	0.5572	M	0.85859	2.78	0.23126	N	0.998259	D	0.89917	1.0	D	0.78314	0.991	T	0.79286	-0.1866	10	0.87932	D	0	-17.4521	13.8043	0.63220	0.0:0.0:0.0:1.0	.	459	Q8N9V2	TRIML_HUMAN	H	459	ENSP00000327738:L459H	ENSP00000327738:L459H	L	+	2	0	TRIML1	189305489	0.757000	0.28394	0.567000	0.28434	0.125000	0.20455	4.877000	0.63086	2.220000	0.72140	0.451000	0.29950	CTC	TRIML1	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000184108		0.562	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1		0	21	0	T	NM_178556		189068495	1			no_errors	ENST00000332517	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.330	A	A	189068495	T	A	189068495	3	1	84	1	0	0	0	0	1	0	0	0	16598	1551	54	5	1398	5	TRIML1	4	189068495	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	19911065	189068495	2085781	65	22260											
IRX1	79192	genome.wustl.edu	37	chr5	3599410	3599410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcccacacggcgccggcTtattacccctacggccagtt	7	7	10	17	4	0	0	0	0	0	0	0	0	0	0	5	3	3	3	5	3	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:3599410T>C	ENST00000302006.3	+	2	400	c.348T>C	c.(346-348)gcT>gcC	p.A116A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	116					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGGCGCCGGCTTATTACCCCT	0.657																																																	0													41	46	44					5																	3599410		2203	4299	6502	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"Homeoboxes / TALE class"	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.348T>C	5.37:g.3599410T>C			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A116	ENST00000302006.3	37	c.348	CCDS34132.1	5																																																																																			IRX1	-	superfamily_Homeodomain-like	ENSG00000170549		0.657	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0	42	0	T	NM_024337		3599410	1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	15.94	58	11	SNP	1.000	C	C	3599410	T	C	3599410	2	2	84	1	0	0	0	0	0	0	0	1	7870	1596	56	4		4	IRX1	5	3599410	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09		3599410	177315850	66	22261											
CDH9	1007	genome.wustl.edu	37	chr5	26881552	26881552	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcattacatcccgtctaAgtttactgtcttctcttgcc	7	15	6	13	1	3	0	0	0	3	0	5	0	4	0	2	1	3	2	2	1	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:26881552A>C	ENST00000231021.4	-	12	2235	c.2063T>G	c.(2062-2064)cTt>cGt	p.L688R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	688					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCCCGTCTAAGTTTACTGTC	0.408																																					Melanoma(8;187 585 15745 40864 52829)												0													192	184	187					5																	26881552		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2063T>G	5.37:g.26881552A>C	ENSP00000231021:p.Leu688Arg		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L688R	ENST00000231021.4	37	c.2063	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024784	0.35701	.	.	ENSG00000113100	ENST00000231021	T	0.76839	-1.05	4.96	3.76	0.43208	Cadherin, cytoplasmic domain (1);	0.334872	0.32357	N	0.006216	T	0.75317	0.3833	L	0.42632	1.34	0.40977	D	0.984746	B;B	0.28783	0.222;0.003	B;B	0.42593	0.392;0.05	T	0.68739	-0.5329	9	.	.	.	.	10.9095	0.47099	0.842:0.1579:0.0:0.0	.	281;688	B4DFP0;Q9ULB4	.;CADH9_HUMAN	R	688	ENSP00000231021:L688R	.	L	-	2	0	CDH9	26917309	1.000000	0.71417	0.953000	0.39169	0.966000	0.64601	5.823000	0.69272	0.800000	0.34041	0.455000	0.32223	CTT	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	34	0	A	NM_016279		26881552	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	38.10	39	24	SNP	0.998	C	C	26881552	A	C	26881552	3	2	84	1	0	0	0	0	1	0	0	0	3124	72	3	4	310	4	CDH9	5	26881552	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	23282142	26881552	154033708	67	22262											
CDH9	1007	genome.wustl.edu	37	chr5	26886180	26886180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttatccatgacactgaCagtctgaatcaactgaaacc	14	10	5	12	0	2	4	1	4	1	0	4	4	4	4	3	0	2	0	3	0	4	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:26886180C>T	ENST00000231021.4	-	10	1697	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	509	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATGACACTGACAGTCTGAATC	0.338																																					Melanoma(8;187 585 15745 40864 52829)												0													64	72	69					5																	26886180		2202	4293	6495	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1525G>A	5.37:g.26886180C>T	ENSP00000231021:p.Val509Ile		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V509I	ENST00000231021.4	37	c.1525	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	3.029	-0.200132	0.06219	.	.	ENSG00000113100	ENST00000231021	T	0.56611	0.45	5.76	0.176	0.15049	Cadherin (4);Cadherin-like (1);	0.548775	0.19944	N	0.102586	T	0.21307	0.0513	N	0.02011	-0.69	0.32368	N	0.55619	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.003	T	0.25847	-1.0120	9	.	.	.	.	9.9781	0.41797	0.0:0.5299:0.0:0.4701	.	102;509	B4DFP0;Q9ULB4	.;CADH9_HUMAN	I	509	ENSP00000231021:V509I	.	V	-	1	0	CDH9	26921937	0.009000	0.17119	0.938000	0.37757	0.990000	0.78478	0.138000	0.16016	0.084000	0.17077	0.467000	0.42956	GTC	CDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113100		0.338	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	59	0	C	NM_016279		26886180	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	20.00	72	18	SNP	0.843	T	T	26886180	C	T	26886180	3	4	84	1	0	0	0	0	1	0	0	0	3124	478	17	3	856	3	CDH9	5	26886180	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	4628	26886180	154029080	68	22263											
CDH6	1004	genome.wustl.edu	37	chr5	31323178	31323178	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcgcgacaacaccgatgtCagagatttcattaaccaaag	14	8	8	11	3	2	1	2	0	0	1	3	4	2	1	2	0	2	1	2	0	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:31323178C>G	ENST00000265071.2	+	12	2401	c.2136C>G	c.(2134-2136)gtC>gtG	p.V712V		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	712					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACACCGATGTCAGAGATTTCA	0.527																																																	0													61	62	61					5																	31323178		2203	4300	6503	SO:0001819	synonymous_variant	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2136C>G	5.37:g.31323178C>G			A8K5H5|Q9BWS0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V712	ENST00000265071.2	37	c.2136	CCDS3894.1	5																																																																																			CDH6	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113361		0.527	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0	50	0	C	NM_004932		31323178	1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	silent	20.75	41	11	SNP	1.000	G	G	31323178	C	G	31323178	2	3	84	1	0	0	0	0	0	0	0	1	3121	813	29	5		5	CDH6	5	31323178	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	4436998	31323178	149592082	69	22264											
NPR3	4883	genome.wustl.edu	37	chr5	32711945	32711945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggctgggcgttgctggcCggcggcaccggtggcggtgg	1	7	21	12	6	0	0	0	0	0	0	1	0	0	0	2	9	1	4	2	9	0	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:32711945C>T	ENST00000265074.8	+	1	406	c.63C>T	c.(61-63)gcC>gcT	p.A21A	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.A21A	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	21					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGTTGCTGGCcggcggcaccg	0.716																																																	0													3	3	3					5																	32711945		1379	2828	4207	SO:0001819	synonymous_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.63C>T	5.37:g.32711945C>T			A2RRD1|B4DT84|E7EPG9	Silent	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.A21	ENST00000265074.8	37	c.63	CCDS56357.1	5																																																																																			NPR3	-	NULL	ENSG00000113389		0.716	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	-	0	47	0	C	NM_000908		32711945	1	tier1	-	no_errors	ENST00000265074	ensembl	human	known	74_37	silent	32.73	37	18	SNP	0.005	T	T	32711945	C	T	32711945	2	4	84	1	0	0	0	0	0	0	0	1	10635	639	23	1		1	NPR3	5	32711945	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1388767	32711945	148203315	70	22265											
RXFP3	51289	genome.wustl.edu	37	chr5	33937201	33937201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagtcctctatcaaccTcttcgtcaccaacctggcgc	8	9	7	17	3	4	0	2	0	2	0	6	0	5	0	4	1	2	1	4	1	4	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:33937201T>C	ENST00000330120.3	+	1	711	c.356T>C	c.(355-357)cTc>cCc	p.L119P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	119					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TCTATCAACCTCTTCGTCACC	0.592																																																	0													127	118	121					5																	33937201		2203	4300	6503	SO:0001583	missense	0			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"GPCR / Class A : Relaxin family peptide receptors"	24883	protein-coding gene	gene with protein product		609445	"relaxin 3 receptor 1", "relaxin family peptide receptor 3"	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.356T>C	5.37:g.33937201T>C	ENSP00000328708:p.Leu119Pro		Q14DA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.L119P	ENST00000330120.3	37	c.356	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646130	0.67358	.	.	ENSG00000182631	ENST00000330120	T	0.22743	1.94	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.126197	0.56097	D	0.000039	T	0.52661	0.1748	M	0.87971	2.92	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.61247	-0.7101	10	0.87932	D	0	-29.3825	16.0014	0.80294	0.0:0.0:0.0:1.0	.	119	Q9NSD7	RL3R1_HUMAN	P	119	ENSP00000328708:L119P	ENSP00000328708:L119P	L	+	2	0	RXFP3	33972958	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.981000	0.63819	2.181000	0.69327	0.528000	0.53228	CTC	RXFP3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000182631		0.592	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	-	0	25	0	T	NM_016568		33937201	1	tier1	-	no_errors	ENST00000330120	ensembl	human	known	74_37	missense	37.78	28	17	SNP	1.000	C	C	33937201	T	C	33937201	3	2	84	1	0	0	0	0	1	0	0	0	13806	1551	54	4	358	4	RXFP3	5	33937201	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	1225256	33937201	146978059	71	22266											
AMACR	23600	genome.wustl.edu	37	chr5	34005897	34005897	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgatatcgtggccagctaAccggcagaagcttcctgact	9	10	11	11	2	0	3	0	2	0	1	2	3	1	3	3	2	3	4	3	2	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:34005897A>T	ENST00000335606.6	-	2	443	c.355T>A	c.(355-357)Tta>Ata	p.L119I	AMACR_ENST00000382068.3_Missense_Mutation_p.L119I|AMACR_ENST00000441713.2_Missense_Mutation_p.L119I|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.V266D|AMACR_ENST00000382072.2_Missense_Mutation_p.L119I|AMACR_ENST00000426255.2_Missense_Mutation_p.L119I|AMACR_ENST00000512079.1_Missense_Mutation_p.L119I|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.L119I|AMACR_ENST00000382085.3_Missense_Mutation_p.L119I	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	119					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TGGCCAGCTAACCGGCAGAAG	0.438																																																	0													54	56	56					5																	34005897		2203	4300	6503	SO:0001583	missense	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.355T>A	5.37:g.34005897A>T	ENSP00000334424:p.Leu119Ile		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.L119I	ENST00000335606.6	37	c.355	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705391	0.30232	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.46	-5.97	0.02227	CoA-transferase family III domain (2);	0.948341	0.08864	N	0.882517	T	0.36303	0.0962	L	0.43152	1.355	0.09310	N	1	B;B;B;B;B;B	0.30236	0.01;0.274;0.01;0.007;0.232;0.007	B;B;B;B;B;B	0.34346	0.038;0.18;0.015;0.026;0.07;0.026	T	0.32052	-0.9921	10	0.22109	T	0.4	0.149	4.0537	0.09806	0.5619:0.1229:0.072:0.2432	.	119;119;119;119;119;119	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	I	119	ENSP00000334424:L119I;ENSP00000371504:L119I;ENSP00000371517:L119I;ENSP00000424351:L119I;ENSP00000403800:L119I	ENSP00000334424:L119I	L	-	1	2	AMACR	34041654	0.000000	0.05858	0.000000	0.03702	0.464000	0.32679	0.038000	0.13862	-1.260000	0.02465	-0.290000	0.09829	TTA	AMACR	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	ENSG00000242110		0.438	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	-	0	59	0	A	NM_014324		34005897	-1	tier1	-	no_errors	ENST00000335606	ensembl	human	known	74_37	missense	26.37	67	24	SNP	0.000	T	T	34005897	A	T	34005897	3	4	84	1	0	0	0	0	1	0	0	0	562	40	2	5	1139	5	AMACR	5	34005897	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	68696	34005897	146909363	72	22267											
EGFLAM	133584	genome.wustl.edu	37	chr5	38407099	38407099	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccatacagagaaaggggaAgaatggtgtggccataatgt	14	8	13	6	0	0	2	0	0	0	2	1	4	1	3	2	4	1	0	2	4	5	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:38407099A>C	ENST00000354891.3	+	8	1344	c.998A>C	c.(997-999)aAg>aCg	p.K333T	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.K99T|EGFLAM_ENST00000322350.5_Missense_Mutation_p.K333T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	333					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGAAAGGGGAAGAATGGTGTG	0.532																																					Colon(62;485 1295 3347 17454)												0													143	135	138					5																	38407099		2203	4300	6503	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.998A>C	5.37:g.38407099A>C	ENSP00000346964:p.Lys333Thr		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.K333T	ENST00000354891.3	37	c.998	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	A	5.347	0.249291	0.10130	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79653	0.82;0.65;-1.29	5.91	2.08	0.27032	.	0.521087	0.23444	N	0.048113	T	0.70430	0.3223	L	0.57536	1.79	0.09310	N	0.999994	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.51236	-0.8731	10	0.11485	T	0.65	-3.7249	6.8762	0.24149	0.2163:0.6556:0.1282:0.0	.	99;333;333	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	T	333;333;99;99	ENSP00000346964:K333T;ENSP00000313084:K333T;ENSP00000337607:K99T	ENSP00000313084:K333T	K	+	2	0	EGFLAM	38442856	0.438000	0.25602	0.025000	0.17156	0.006000	0.05464	2.227000	0.42972	0.412000	0.25729	0.533000	0.62120	AAG	EGFLAM	-	NULL	ENSG00000164318		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0	48	0	A	NM_152403		38407099	1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	21.88	49	14	SNP	0.065	C	C	38407099	A	C	38407099	3	2	84	1	0	0	0	0	1	0	0	0	4980	72	3	4	1042	4	EGFLAM	5	38407099	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	4401202	38407099	142508161	73	22268											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41017990	41017990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatagttgagctagcagccGcctgacggatggtgggcagg	9	7	16	9	2	0	2	0	2	0	0	0	3	0	3	2	4	3	4	2	4	3	3	rs199545321		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:41017990G>A	ENST00000399564.4	-	28	3296	c.2846C>T	c.(2845-2847)gCg>gTg	p.A949V	MROH2B_ENST00000506092.2_Missense_Mutation_p.A504V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	949																	GCTAGCAGCCGCCTGACGGAT	0.473																																																	0								G	VAL/ALA	0,3814		0,0,1907	37	37	37		2846	4	0.9	5		37	3,8247		0,3,4122	yes	missense	HEATR7B2	NM_173489.4	64	0,3,6029	AA,AG,GG		0.0364,0.0,0.0249	probably-damaging	949/1586	41017990	3,12061	1907	4125	6032	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2846C>T	5.37:g.41017990G>A	ENSP00000382476:p.Ala949Val		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A949V	ENST00000399564.4	37	c.2846	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663889	0.47572	0.0	3.64E-4	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.65732	3.37;-0.17	5.86	4.04	0.47022	Armadillo-like helical (1);Armadillo-type fold (1);	0.247191	0.29087	N	0.013182	T	0.49541	0.1563	L	0.61218	1.895	0.24042	N	0.996079	P	0.50443	0.935	B	0.36766	0.232	T	0.45071	-0.9286	10	0.18276	T	0.48	.	8.1093	0.30905	0.0:0.2209:0.6247:0.1544	.	949	Q7Z745	HTRB2_HUMAN	V	504;654;949	ENSP00000441504:A504V;ENSP00000382476:A949V	ENSP00000296803:A654V	A	-	2	0	HEATR7B2	41053747	0.989000	0.36119	0.903000	0.35520	0.293000	0.27360	2.996000	0.49449	1.464000	0.47987	0.591000	0.81541	GCG	MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	60	0	G	NM_173489		41017990	-1	tier1	rs199545321	no_errors	ENST00000399564	ensembl	human	known	74_37	missense	17.91	55	12	SNP	0.614	A	A	41017990	G	A	41017990	3	1	84	1	0	0	0	0	1	0	0	0	7062	1087	38	1	1971	1	HEATR7B2	5	41017990	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	2610891	41017990	139897270	74	22269											
HSPB3	8988	genome.wustl.edu	37	chr5	53751848	53751848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcagatcctgctggacGtggtccagttcctccctgaa	7	12	9	13	1	1	2	1	1	0	1	5	3	5	3	4	2	1	2	4	2	1	2	rs148535965	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:53751848G>A	ENST00000302005.1	+	1	404	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	77					cell death (GO:0008219)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CCTGCTGGACGTGGTCCAGTT	0.547													G|||	5	0.000998403	0.0038	0	5008	,	,		20261	0		0	False		,,,				2504	0																0								G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	97	88	91		229	5.7	1	5	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPB3	NM_006308.2	21	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	77/151	53751848	3,13003	2203	4300	6503	SO:0001583	missense	0			Y17782	CCDS3961.1	5q11.2	2011-09-02	2002-08-29		ENSG00000169271	ENSG00000169271		"Heat shock proteins / HSPB"	5248	protein-coding gene	gene with protein product		604624	"heat shock 27kD protein 3"			8972725, 9858786	Standard	NM_006308		Approved	HSPL27	uc003jph.2	Q12988	OTTHUMG00000096995	ENST00000302005.1:c.229G>A	5.37:g.53751848G>A	ENSP00000303394:p.Val77Met			Missense_Mutation	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.V77M	ENST00000302005.1	37	c.229	CCDS3961.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520918	0.85495	4.54E-4	1.16E-4	ENSG00000169271	ENST00000302005	D	0.94232	-3.38	5.67	5.67	0.87782	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.64402	D	0.000001	D	0.97062	0.9040	M	0.83953	2.67	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.97294	0.9926	10	0.87932	D	0	-1.7026	19.7612	0.96319	0.0:0.0:1.0:0.0	.	77	Q12988	HSPB3_HUMAN	M	77	ENSP00000303394:V77M	ENSP00000303394:V77M	V	+	1	0	HSPB3	53787605	1.000000	0.71417	0.988000	0.46212	0.758000	0.43043	7.692000	0.84203	2.646000	0.89796	0.655000	0.94253	GTG	HSPB3	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	ENSG00000169271		0.547	HSPB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPB3	HGNC	protein_coding	OTTHUMT00000214074.2	-	0	30	0	G			53751848	1	tier1	rs148535965	no_errors	ENST00000302005	ensembl	human	known	74_37	missense	58.97	16	23	SNP	1.000	A	A	53751848	G	A	53751848	3	1	84	1	0	0	0	0	1	0	0	0	7448	1145	40	1	231	1	HSPB3	5	53751848	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	12733858	53751848	127163412	75	22270											
RNF180	285671	genome.wustl.edu	37	chr5	63621154	63621154	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcttctgtgagccctgcTtacggactctggccaaagac	9	10	9	13	1	3	2	0	1	3	1	3	3	3	3	2	2	3	1	2	2	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:63621154T>C	ENST00000389100.4	+	6	1441	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L		NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	457	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TGAGCCCTGCTTACGGACTCT	0.433																																																	0													259	210	225					5																	63621154		692	1591	2283	SO:0001819	synonymous_variant	0			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"RING-type (C3HC4) zinc fingers"	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1369T>C	5.37:g.63621154T>C			Q0JSU3|Q495A8|Q8NBD1	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L457	ENST00000389100.4	37	c.1369	CCDS47219.1	5																																																																																			RNF180	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000164197		0.433	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF180	HGNC	protein_coding	OTTHUMT00000368394.1	-	0	61	0	T	NM_178532		63621154	1	tier1	-	no_errors	ENST00000389100	ensembl	human	known	74_37	silent	29.17	68	28	SNP	0.998	C	C	63621154	T	C	63621154	2	2	84	1	0	0	0	0	0	0	0	1	13509	1606	56	4		4	RNF180	5	63621154	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	9869306	63621154	117294106	76	22271											
ERBB2IP	55914	genome.wustl.edu	37	chr5	65349460	65349460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatcttaataaacttataActaatgatacatttcaacca	18	14	2	7	0	2	2	1	2	1	0	2	2	2	2	1	0	4	0	1	0	9	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:65349460A>G	ENST00000284037.5	+	21	2703	c.2314A>G	c.(2314-2316)Act>Gct	p.T772A	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.T772A|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.T772A|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.T772A|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.T772A|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.T772A|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.T772A|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.T768A|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.T772A	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	772					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TAAACTTATAACTAATGATAC	0.323																																																	0													43	46	45					5																	65349460		2202	4296	6498	SO:0001583	missense	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2314A>G	5.37:g.65349460A>G	ENSP00000284037:p.Thr772Ala		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.T772A	ENST00000284037.5	37	c.2314	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	A	9.028	0.986651	0.18889	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.38240	1.35;1.35;1.35;1.54;1.15;1.42;1.35;1.38;1.15	5.56	5.56	0.83823	.	0.498508	0.22495	N	0.059303	T	0.24547	0.0595	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B	0.21147	0.052;0.031;0.031;0.024;0.009;0.023;0.042	B;B;B;B;B;B;B	0.24006	0.047;0.021;0.021;0.021;0.01;0.047;0.05	T	0.12785	-1.0534	10	0.29301	T	0.29	.	6.1912	0.20526	0.7818:0.0:0.075:0.1432	.	772;772;772;768;772;772;772	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	A	772;772;772;772;772;772;768;772;772	ENSP00000284037:T772A;ENSP00000370330:T772A;ENSP00000370326:T772A;ENSP00000370323:T772A;ENSP00000370322:T772A;ENSP00000370325:T772A;ENSP00000422766:T768A;ENSP00000426632:T772A;ENSP00000422015:T772A	ENSP00000284037:T772A	T	+	1	0	ERBB2IP	65385216	0.393000	0.25237	0.964000	0.40570	0.883000	0.51084	2.324000	0.43831	2.108000	0.64289	0.383000	0.25322	ACT	ERBB2IP	-	NULL	ENSG00000112851		0.323	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	-	0	51	0	A	NM_018695		65349460	1	tier1	-	no_errors	ENST00000284037	ensembl	human	known	74_37	missense	33.73	55	28	SNP	0.030	G	G	65349460	A	G	65349460	3	3	84	1	0	0	0	0	1	0	0	0	5223	43	2	4	2388	4	ERBB2IP	5	65349460	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	1728306	65349460	115565800	77	22272											
GCNT4	51301	genome.wustl.edu	37	chr5	74325642	74325642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcctgttcatagatacccGaacagttaacttcatacctg	11	12	6	12	1	2	1	2	0	0	1	3	2	3	1	3	0	4	3	3	0	5	6	rs149074938		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:74325642G>A	ENST00000322348.4	-	1	1082	c.221C>T	c.(220-222)tCg>tTg	p.S74L		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	74					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATAGATACCCGAACAGTTAAC	0.403																																																	0								G	LEU/SER	2,4404		0,2,2201	138	130	133		221	5.1	0.9	5	dbSNP_134	133	0,8600		0,0,4300	no	missense	GCNT4	NM_016591.2	145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	74/454	74325642	2,13004	2203	4300	6503	SO:0001583	missense	0			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	17973	protein-coding gene	gene with protein product	"core 2 beta-1,6-N-acetylglucosaminyltransferase 3", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"		"glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.221C>T	5.37:g.74325642G>A	ENSP00000317027:p.Ser74Leu			Missense_Mutation	SNP	pfam_Glyco_trans_14	p.S74L	ENST00000322348.4	37	c.221	CCDS4026.1	5	.	.	.	.	.	.	.	.	.	.	.	16.96	3.267309	0.59540	4.54E-4	0.0	ENSG00000176928	ENST00000322348	T	0.45668	0.89	5.95	5.09	0.68999	.	0.203305	0.43110	D	0.000615	T	0.41259	0.1151	M	0.65975	2.015	0.36279	D	0.855673	D	0.58970	0.984	B	0.38264	0.269	T	0.58923	-0.7550	10	0.52906	T	0.07	-10.8927	15.2664	0.73666	0.067:0.0:0.933:0.0	.	74	Q9P109	GCNT4_HUMAN	L	74	ENSP00000317027:S74L	ENSP00000317027:S74L	S	-	2	0	GCNT4	74361398	1.000000	0.71417	0.885000	0.34714	0.973000	0.67179	4.697000	0.61782	1.524000	0.49035	0.655000	0.94253	TCG	GCNT4	-	NULL	ENSG00000176928		0.403	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT4	HGNC	protein_coding	OTTHUMT00000254040.1	-	0	32	0	G	NM_016591		74325642	-1	tier1	rs149074938	no_errors	ENST00000322348	ensembl	human	known	74_37	missense	23.40	36	11	SNP	0.997	A	A	74325642	G	A	74325642	3	1	84	1	0	0	0	0	1	0	0	0	6328	1059	37	1	1144	1	GCNT4	5	74325642	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	8976182	74325642	106589618	78	22273											
EDIL3	10085	genome.wustl.edu	37	chr5	83433072	83433072	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttactgtattgacaattTcttcccataaattcgcctgg	10	16	5	10	1	1	1	0	1	1	0	3	1	2	1	2	1	2	1	2	1	6	8			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:83433072T>C	ENST00000296591.5	-	5	874	c.456A>G	c.(454-456)agA>agG	p.R152R	EDIL3_ENST00000380138.3_Silent_p.R142R	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	152	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATTGACAATTTCTTCCCATAA	0.388																																																	0													158	136	143					5																	83433072		2203	4300	6503	SO:0001819	synonymous_variant	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.456A>G	5.37:g.83433072T>C			B2R763|O43855|Q5D094|Q8N610	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R152	ENST00000296591.5	37	c.456	CCDS4062.1	5																																																																																			EDIL3	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000164176		0.388	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0	40	0	T	NM_005711		83433072	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	silent	30.43	32	14	SNP	0.977	C	C	83433072	T	C	83433072	2	2	84	1	0	0	0	0	0	0	0	1	4929	1780	62	4		4	EDIL3	5	83433072	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	9107430	83433072	97482188	79	22274											
FEM1C	56929	genome.wustl.edu	37	chr5	114878803	114878803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacaaggtacttcactatttCcaaatggccatcgaaacacg	14	10	6	11	2	1	0	1	0	0	0	3	1	2	0	2	2	3	1	2	2	6	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:114878803C>T	ENST00000274457.3	-	2	949	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	130					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTCACTATTTCCAAATGGCCA	0.423																																																	0													117	115	116					5																	114878803		2202	4300	6502	SO:0001583	missense	0				CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"Ankyrin repeat domain containing"	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.388G>A	5.37:g.114878803C>T	ENSP00000274457:p.Glu130Lys		B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E130K	ENST00000274457.3	37	c.388	CCDS4118.1	5	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684990	0.88639	.	.	ENSG00000145780	ENST00000274457	T	0.68903	-0.36	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.053179	0.85682	D	0.000000	T	0.66781	0.2824	L	0.51914	1.62	0.80722	D	1	B	0.19200	0.034	B	0.27715	0.082	T	0.63967	-0.6517	10	0.62326	D	0.03	-22.896	19.4166	0.94703	0.0:1.0:0.0:0.0	.	130	Q96JP0	FEM1C_HUMAN	K	130	ENSP00000274457:E130K	ENSP00000274457:E130K	E	-	1	0	FEM1C	114906702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	2.588000	0.87417	0.585000	0.79938	GAA	FEM1C	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145780		0.423	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1C	HGNC	protein_coding	OTTHUMT00000250857.3	-	0	69	0	C	NM_020177		114878803	-1	tier1	-	no_errors	ENST00000274457	ensembl	human	known	74_37	missense	29.73	52	22	SNP	1.000	T	T	114878803	C	T	114878803	3	4	84	1	0	0	0	0	1	0	0	0	5833	864	30	3	1473	3	FEM1C	5	114878803	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	31445731	114878803	66036457	80	22275											
TMCO6	55374	genome.wustl.edu	37	chr5	140023719	140023719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtacctccttgctctcCctggatctgattgagcctct	4	16	7	14	0	4	2	0	2	4	0	6	3	5	3	4	1	3	2	4	1	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:140023719C>T	ENST00000394671.3	+	10	1241	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Silent_p.S386S|TMCO6_ENST00000537378.1_Silent_p.S140S	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	380					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGCTCTCCCTGGATCTGA	0.488																																																	0													269	259	262					5																	140023719		1982	4182	6164	SO:0001819	synonymous_variant	0			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1140C>T	5.37:g.140023719C>T			Q9BUU0|Q9P198	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.S386	ENST00000394671.3	37	c.1158	CCDS4233.2	5																																																																																			TMCO6	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000113119		0.488	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	-	0	68	0	C	NM_018502		140023719	1	tier1	-	no_errors	ENST00000252100	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.996	T	T	140023719	C	T	140023719	2	4	84	1	0	0	0	0	0	0	0	1	16047	610	22	3		3	TMCO6	5	140023719	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	25144916	140023719	40891541	81	22276											
PCDHB3	56132	genome.wustl.edu	37	chr5	140481002	140481002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttctagagaatacccccGttaactctgtcattgtcact	10	13	6	12	1	4	1	2	0	2	1	4	2	4	1	2	0	2	2	2	0	4	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:140481002G>A	ENST00000231130.2	+	1	769	c.769G>A	c.(769-771)Gtt>Att	p.V257I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATACCCCCGTTAACTCTGT	0.423																																																	0													71	78	76					5																	140481002		2203	4300	6503	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.769G>A	5.37:g.140481002G>A	ENSP00000231130:p.Val257Ile		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V257I	ENST00000231130.2	37	c.769	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.838245	0.00573	.	.	ENSG00000113205	ENST00000231130	T	0.52754	0.65	4.93	-9.86	0.00473	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25457	0.0619	N	0.16201	0.385	0.09310	N	1	B	0.15719	0.014	B	0.18263	0.021	T	0.32348	-0.9910	9	0.25751	T	0.34	.	13.0908	0.59166	0.1246:0.3232:0.5522:0.0	.	257	Q9Y5E6	PCDB3_HUMAN	I	257	ENSP00000231130:V257I	ENSP00000231130:V257I	V	+	1	0	PCDHB3	140461186	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-5.542000	0.00114	-2.892000	0.00315	-0.844000	0.03045	GTT	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000113205		0.423	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	19	0	G	NM_018937		140481002	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.000	A	A	140481002	G	A	140481002	3	1	84	1	0	0	0	0	1	0	0	0	11582	1145	40	1	771	1	PCDHB3	5	140481002	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	457283	140481002	40434258	82	22277											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140767797	140767797	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctgaaaatccactgaacTtttatcacgtgaatgtggag	12	13	9	7	1	1	3	1	3	0	0	2	4	2	4	1	1	2	1	1	1	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:140767797T>A	ENST00000519479.1	+	1	346	c.346T>A	c.(346-348)Ttt>Att	p.F116I	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACTGAACTTTTATCACGT	0.478																																																	0													33	30	31					5																	140767797		1803	4045	5848	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.346T>A	5.37:g.140767797T>A	ENSP00000428288:p.Phe116Ile		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F116I	ENST00000519479.1	37	c.346	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	8.564	0.878397	0.17395	.	.	ENSG00000253953	ENST00000519479	T	0.37411	1.2	4.95	3.75	0.43078	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.13457	0.0326	N	0.02357	-0.585	0.25955	N	0.9827	B;B	0.14438	0.01;0.001	B;B	0.15484	0.013;0.006	T	0.25117	-1.0141	9	0.06365	T	0.9	.	9.6092	0.39652	0.3986:0.0:0.0:0.6014	.	116;116	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	I	116	ENSP00000428288:F116I	ENSP00000428288:F116I	F	+	1	0	PCDHGB4	140747981	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	-1.046000	0.03525	0.807000	0.34208	0.529000	0.55759	TTT	PCDHGB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.478	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	-	0	17	0	T	NM_003736		140767797	1	tier1	-	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.970	A	A	140767797	T	A	140767797	3	1	84	1	0	0	0	0	1	0	0	0	11604	1609	56	5	348	5	PCDHGB4	5	140767797	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	286795	140767797	40147463	83	22278											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140768512	140768512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtctctacccaacctaaTtatggaggacgccgagctgg	10	8	10	13	2	1	0	0	0	1	0	2	3	1	2	4	3	3	1	4	3	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:140768512T>C	ENST00000519479.1	+	1	1061	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	354	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACCTAATTATGGAGGAC	0.463																																																	0													111	104	107					5																	140768512		1891	4121	6012	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1061T>C	5.37:g.140768512T>C	ENSP00000428288:p.Ile354Thr		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I354T	ENST00000519479.1	37	c.1061	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	16.15	3.040699	0.55003	.	.	ENSG00000253953	ENST00000519479	T	0.56776	0.44	5.09	2.63	0.31362	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.75708	0.3886	H	0.95043	3.615	0.09310	N	1	D;D	0.65815	0.995;0.988	D;D	0.64877	0.925;0.93	T	0.64863	-0.6307	9	0.72032	D	0.01	.	6.7934	0.23711	0.1352:0.0747:0.0:0.7901	.	354;354	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	T	354	ENSP00000428288:I354T	ENSP00000428288:I354T	I	+	2	0	PCDHGB4	140748696	0.975000	0.34042	0.001000	0.08648	0.008000	0.06430	7.768000	0.85345	0.337000	0.23665	0.533000	0.62120	ATT	PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000253953		0.463	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	-	0	43	0	T	NM_003736		140768512	1	tier1	-	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	28.81	42	17	SNP	0.024	C	C	140768512	T	C	140768512	3	2	84	1	0	0	0	0	1	0	0	0	11604	1493	52	4	1063	4	PCDHGB4	5	140768512	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	715	140768512	40146748	84	22279											
PCDHGB4	8641	genome.wustl.edu	37	chr5	140769142	140769142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgggtgctgtaccccgCgctgggtcccgacggctctg	3	7	15	16	5	1	0	0	0	1	0	2	1	2	0	4	3	2	4	4	3	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:140769142C>T	ENST00000519479.1	+	1	1691	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	564					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACCCCGCGCTGGGTCCC	0.672																																																	0													36	46	42					5																	140769142		2152	4262	6414	SO:0001583	missense	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"Cadherins / Protocadherins : Clustered"	8711	other	protocadherin	"fibroblast cadherin FIB2", "cadherin 20"	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1691C>T	5.37:g.140769142C>T	ENSP00000428288:p.Ala564Val		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A564V	ENST00000519479.1	37	c.1691	CCDS54928.1	5	.	.	.	.	.	.	.	.	.	.	.	21.5	4.164576	0.78339	.	.	ENSG00000253953	ENST00000519479	T	0.49432	0.78	5.05	5.05	0.67936	Cadherin-like (1);	.	.	.	.	T	0.41926	0.1180	N	0.02011	-0.69	0.23809	N	0.996783	D;D	0.69078	0.997;0.984	P;P	0.59761	0.863;0.631	T	0.55147	-0.8186	9	0.48119	T	0.1	.	18.4161	0.90571	0.0:1.0:0.0:0.0	.	564;564	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	V	564	ENSP00000428288:A564V	ENSP00000428288:A564V	A	+	2	0	PCDHGB4	140749326	0.000000	0.05858	1.000000	0.80357	0.925000	0.55904	0.583000	0.23849	2.503000	0.84419	0.563000	0.77884	GCG	PCDHGB4	-	superfamily_Cadherin-like	ENSG00000253953		0.672	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	-	0	67	0	C	NM_003736		140769142	1	tier1	-	no_errors	ENST00000519479	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.997	T	T	140769142	C	T	140769142	3	4	84	1	0	0	0	0	1	0	0	0	11604	768	27	1	1693	1	PCDHGB4	5	140769142	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	630	140769142	40146118	85	22280											
PCDHGC4	56098	genome.wustl.edu	37	chr5	140864808	140864808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgttcctcttttaccAcctgggttacgtttgtgggc	3	18	9	11	1	1	0	0	0	1	0	2	0	2	0	4	2	2	3	4	2	2	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:140864808A>G	ENST00000306593.1	+	1	68	c.68A>G	c.(67-69)cAc>cGc	p.H23R	PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	23					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTTTTACCACCTGGGTTAC	0.542																																																	0													58	63	61					5																	140864808		2203	4300	6503	SO:0001583	missense	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.68A>G	5.37:g.140864808A>G	ENSP00000306918:p.His23Arg		Q495T2|Q9Y5C3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.H23R	ENST00000306593.1	37	c.68	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	A	8.875	0.950272	0.18431	.	.	ENSG00000242419	ENST00000306593	T	0.46451	0.87	4.81	3.66	0.41972	.	.	.	.	.	T	0.17577	0.0422	N	0.02916	-0.46	0.21355	N	0.999719	B;B	0.21225	0.053;0.022	B;B	0.24701	0.055;0.021	T	0.20907	-1.0261	9	0.25106	T	0.35	.	3.8527	0.08962	0.6084:0.0:0.2407:0.1508	.	23;23	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	R	23	ENSP00000306918:H23R	ENSP00000306918:H23R	H	+	2	0	PCDHGC4	140844992	0.990000	0.36364	1.000000	0.80357	0.988000	0.76386	0.760000	0.26475	0.875000	0.35847	0.459000	0.35465	CAC	PCDHGC4	-	NULL	ENSG00000242419		0.542	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	HGNC	protein_coding	OTTHUMT00000251820.1	-	0	39	0	A	NM_018928		140864808	1	tier1	-	no_errors	ENST00000306593	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.999	G	G	140864808	A	G	140864808	3	3	84	1	0	0	0	0	1	0	0	0	11609	159	6	4	70	4	PCDHGC4	5	140864808	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	95666	140864808	40050452	86	22281											
SH3TC2	79628	genome.wustl.edu	37	chr5	148384459	148384459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtactcagtggcatcatGggcatcctaaccccgtggta	10	9	11	11	1	2	0	2	0	0	0	3	1	3	0	3	3	2	4	3	3	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:148384459G>T	ENST00000515425.1	-	17	3783	c.3682C>A	c.(3682-3684)Cat>Aat	p.H1228N	SH3TC2_ENST00000512049.1_Missense_Mutation_p.H1221N|SH3TC2_ENST00000502274.1_Missense_Mutation_p.H90N|SH3TC2_ENST00000538184.1_3'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1228					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCATCATGGGCATCCTAA	0.547																																																	0													63	63	63					5																	148384459		2203	4300	6503	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3682C>A	5.37:g.148384459G>T	ENSP00000423660:p.His1228Asn		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.H1228N	ENST00000515425.1	37	c.3682	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054799	0.55325	.	.	ENSG00000169247	ENST00000502274;ENST00000515425;ENST00000512049	T;T;T	0.75477	-0.94;-0.92;-0.94	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.178183	0.51477	D	0.000089	T	0.64216	0.2578	L	0.40543	1.245	0.80722	D	1	P;P	0.49559	0.925;0.925	B;B	0.37833	0.259;0.259	T	0.63363	-0.6654	10	0.23891	T	0.37	-16.1211	15.8357	0.78796	0.0:0.2478:0.7522:0.0	.	1221;1228	Q14CC0;Q8TF17	.;S3TC2_HUMAN	N	90;1228;1221	ENSP00000421092:H90N;ENSP00000423660:H1228N;ENSP00000421860:H1221N	ENSP00000421092:H90N	H	-	1	0	SH3TC2	148364652	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.939000	0.63526	2.873000	0.98535	0.561000	0.74099	CAT	SH3TC2	-	NULL	ENSG00000169247		0.547	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	-	0	42	0	G	NM_024577		148384459	-1	tier1	-	no_errors	ENST00000515425	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	T	T	148384459	G	T	148384459	3	4	84	1	0	0	0	0	1	0	0	0	14307	1348	47	3	188	3	SH3TC2	5	148384459	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7519651	148384459	32530801	87	22282											
FAT2	2196	genome.wustl.edu	37	chr5	150924030	150924030	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttaggacaccagtcttgaAgtcagtggtgaacagcatca	12	10	11	8	0	3	2	2	2	1	0	3	3	3	3	1	2	2	2	1	2	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:150924030A>C	ENST00000261800.5	-	9	6670	c.6658T>G	c.(6658-6660)Ttc>Gtc	p.F2220V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2220	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTCTTGAAGTCAGTGGTG	0.517																																																	0													126	123	124					5																	150924030		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6658T>G	5.37:g.150924030A>C	ENSP00000261800:p.Phe2220Val		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F2220V	ENST00000261800.5	37	c.6658	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485541	0.63962	.	.	ENSG00000086570	ENST00000261800	T	0.50277	0.75	5.48	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000006	T	0.58061	0.2096	L	0.45470	1.425	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.52193	-0.8608	10	0.26408	T	0.33	.	11.1428	0.48413	0.9276:0.0:0.0724:0.0	.	2220	Q9NYQ8	FAT2_HUMAN	V	2220	ENSP00000261800:F2220V	ENSP00000261800:F2220V	F	-	1	0	FAT2	150904223	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	9.252000	0.95491	0.913000	0.36797	0.459000	0.35465	TTC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.517	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	46	0	A	NM_001447		150924030	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	25.58	64	22	SNP	1.000	C	C	150924030	A	C	150924030	3	2	84	1	0	0	0	0	1	0	0	0	5712	72	3	4	6451	4	FAT2	5	150924030	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2539571	150924030	29991230	88	22283											
HAND1	9421	genome.wustl.edu	37	chr5	153857302	153857302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccggccaagacggccGccaagcgcctccagccgccc	6	3	11	21	6	0	1	0	0	0	1	2	1	2	1	9	2	2	0	9	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:153857302G>A	ENST00000231121.2	-	1	522	c.267C>T	c.(265-267)ggC>ggT	p.G89G		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	89					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CAAGACGGCCGCCAAGCGCCT	0.721																																																	0													15	17	16					5																	153857302		2200	4286	6486	SO:0001819	synonymous_variant	0			AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"Basic helix-loop-helix proteins"	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.267C>T	5.37:g.153857302G>A				Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G89	ENST00000231121.2	37	c.267	CCDS4327.1	5																																																																																			HAND1	-	NULL	ENSG00000113196		0.721	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND1	HGNC	protein_coding	OTTHUMT00000252511.1	-	0	16	0	G	NM_004821		153857302	-1	tier1	-	no_errors	ENST00000231121	ensembl	human	known	74_37	silent	33.33	8	4	SNP	0.569	A	A	153857302	G	A	153857302	2	1	84	1	0	0	0	0	0	0	0	1	6976	1074	38	1		1	HAND1	5	153857302	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	2933272	153857302	27057958	89	22284											
ITK	3702	genome.wustl.edu	37	chr5	156641262	156641262	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatttctggatggatgggaAgtggaggtgctgttctcagc	8	13	15	5	0	2	0	1	0	2	0	3	4	2	4	0	5	2	2	0	5	2	3	rs201959697		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:156641262A>T	ENST00000422843.3	+	4	538	c.386A>T	c.(385-387)aAg>aTg	p.K129M	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	129					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ATGGATGGGAAGTGGAGGTGC	0.438			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													135	126	129					5																	156641262		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.386A>T	5.37:g.156641262A>T	ENSP00000398655:p.Lys129Met		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K129M	ENST00000422843.3	37	c.386	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	A	18.94	3.730462	0.69074	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;D	0.94497	-3.44;-3.44	5.49	3.7	0.42460	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.148670	0.64402	D	0.000009	D	0.94245	0.8152	L	0.43598	1.365	0.36488	D	0.868277	D	0.60575	0.988	P	0.59171	0.853	D	0.94268	0.7508	10	0.51188	T	0.08	.	10.4666	0.44611	0.1623:0.0:0.8377:0.0	.	129	Q08881	ITK_HUMAN	M	4;129	ENSP00000430327:K4M;ENSP00000398655:K129M	ENSP00000398655:K129M	K	+	2	0	ITK	156573840	0.999000	0.42202	0.996000	0.52242	0.981000	0.71138	1.423000	0.34837	0.670000	0.31165	-0.242000	0.12053	AAG	ITK	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif	ENSG00000113263		0.438	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	65	0	A			156641262	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	T	T	156641262	A	T	156641262	3	4	84	1	0	0	0	0	1	0	0	0	7936	72	3	5	400	5	ITK	5	156641262	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2783960	156641262	24273998	90	22285											
CYFIP2	26999	genome.wustl.edu	37	chr5	156810274	156810274	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgactccttttgcagaGggggagcgcctggaggtccg	5	9	16	11	3	1	1	0	0	1	1	3	4	3	3	3	4	3	1	3	4	0	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:156810274G>T	ENST00000521420.1	+	27	3127	c.3036G>T	c.(3034-3036)gaG>gaT	p.E1012D	CYFIP2_ENST00000377576.3_Splice_Site_p.E1038D|CTB-47B11.3_ENST00000520658.1_RNA|CYFIP2_ENST00000522463.1_Splice_Site_p.E842D|CYFIP2_ENST00000541131.1_Splice_Site_p.E963D|CYFIP2_ENST00000318218.6_Splice_Site_p.E1063D|CYFIP2_ENST00000442283.2_3'UTR|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000435847.2_Splice_Site_p.E737D|CYFIP2_ENST00000347377.6_Splice_Site_p.E1038D					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTTTGCAGAGGGGGAGCGCC	0.572																																																	0													28	30	29					5																	156810274		1897	4101	5998	SO:0001630	splice_region_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3035-1G>T	5.37:g.156810274G>T				Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.E1063D	ENST00000521420.1	37	c.3189		5	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830724	0.71258	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.12	-0.747	0.11091	.	0.000000	0.85682	D	0.000000	T	0.39253	0.1071	L	0.52905	1.665	0.80722	D	1	B;B;B;B;B;B	0.34181	0.005;0.011;0.017;0.005;0.016;0.44	B;B;B;B;B;P	0.58928	0.012;0.029;0.032;0.016;0.012;0.848	T	0.17107	-1.0380	10	0.25106	T	0.35	.	9.2153	0.37344	0.6465:0.0:0.3535:0.0	.	902;842;1012;1038;1038;1063	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	D	1063;842;1012;1038;1038;963;737	ENSP00000325817:E1063D;ENSP00000428009:E842D;ENSP00000430904:E1012D;ENSP00000313567:E1038D;ENSP00000366799:E1038D;ENSP00000444645:E963D;ENSP00000403793:E737D	ENSP00000325817:E1063D	E	+	3	2	CYFIP2	156742852	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	2.687000	0.46976	-0.062000	0.13088	-0.251000	0.11542	GAG	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.572	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1		0	74	0	G	NM_001037332	Missense_Mutation	156810274	1			no_errors	ENST00000318218	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	156810274	G	T	156810274	5	4	84	1	0	0	0	0	0	0	1	0	4147	1014	35	3	3220	3	CYFIP2	5	156810274	Splice_Site	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	169012	156810274	24104986	91	22286											
DOCK2	1794	genome.wustl.edu	37	chr5	169108824	169108824	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataataccagtgtcatcagcTtgttccatgcacatgaggaa	13	11	8	9	0	2	1	2	1	0	0	3	2	3	2	2	1	3	3	2	1	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:169108824T>C	ENST00000256935.8	+	7	627	c.547T>C	c.(547-549)Ttg>Ctg	p.L183L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	183					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCATCAGCTTGTTCCATGC	0.398																																																	0													151	142	145					5																	169108824		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.547T>C	5.37:g.169108824T>C			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.L183	ENST00000256935.8	37	c.547	CCDS4371.1	5																																																																																			DOCK2	-	NULL	ENSG00000134516		0.398	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	62	0	T	NM_004946		169108824	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	silent	26.25	59	21	SNP	1.000	C	C	169108824	T	C	169108824	2	2	84	1	0	0	0	0	0	0	0	1	4701	1606	56	4		4	DOCK2	5	169108824	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	12298550	169108824	11806436	92	22287											
ZNF454	285676	genome.wustl.edu	37	chr5	178392970	178392970	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacatcatattggagagaAgtgatatgaatgcagtttgt	14	12	12	3	0	1	4	1	2	0	2	1	7	1	5	0	1	1	2	0	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr5:178392970A>C	ENST00000320129.3	+	5	1868	c.1565A>C	c.(1564-1566)aAg>aCg	p.K522T	ZNF454_ENST00000519564.1_Missense_Mutation_p.K522T	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	522					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATTGGAGAGAAGTGATATGAA	0.363																																																	0													60	62	61					5																	178392970		2202	4300	6502	SO:0001583	missense	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1565A>C	5.37:g.178392970A>C	ENSP00000326249:p.Lys522Thr		Q2M1P2|Q2M323	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K522T	ENST00000320129.3	37	c.1565	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	A	11.97	1.798783	0.31777	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.08896	3.04;3.04	4.46	3.26	0.37387	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39615	N	0.001306	T	0.25791	0.0628	M	0.86864	2.845	0.30929	N	0.727105	P	0.51933	0.949	P	0.59288	0.855	T	0.21449	-1.0245	10	0.87932	D	0	.	8.5819	0.33634	0.9053:0.0:0.0947:0.0	.	522	Q8N9F8	ZN454_HUMAN	T	522	ENSP00000326249:K522T;ENSP00000430354:K522T	ENSP00000326249:K522T	K	+	2	0	ZNF454	178325576	0.123000	0.22298	0.962000	0.40283	0.008000	0.06430	1.578000	0.36525	0.813000	0.34350	0.528000	0.53228	AAG	ZNF454	-	pfscan_Znf_C2H2	ENSG00000178187		0.363	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	-	0	25	0	A	XM_209718		178392970	1	tier1	-	no_errors	ENST00000320129	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	C	C	178392970	A	C	178392970	3	2	84	1	0	0	0	0	1	0	0	0	17971	72	3	4	1579	4	ZNF454	5	178392970	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	9284146	178392970	2522290	93	22288											
NUP153	9972	genome.wustl.edu	37	chr6	17675873	17675873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaactgccaattgggaatgCcgaggatgtagatggctgac	11	8	14	8	2	0	2	0	1	0	1	0	6	0	4	2	3	3	2	2	3	4	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:17675873C>T	ENST00000262077.2	-	3	462	c.463G>A	c.(463-465)Gca>Aca	p.A155T	NUP153_ENST00000537253.1_Missense_Mutation_p.A155T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	155					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTGGGAATGCCGAGGATGTA	0.423																																																	0													102	96	98					6																	17675873		2203	4300	6503	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.463G>A	6.37:g.17675873C>T	ENSP00000262077:p.Ala155Thr		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.A155T	ENST00000262077.2	37	c.463	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733578	0.48939	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.36520	1.25;1.25	5.26	5.26	0.73747	Nucleoporin, Nup153-like (1);	0.000000	0.52532	D	0.000073	T	0.12475	0.0303	L	0.38838	1.175	0.44771	D	0.997776	P;B;B	0.41450	0.75;0.3;0.134	B;B;B	0.33690	0.168;0.096;0.077	T	0.05084	-1.0907	10	0.38643	T	0.18	-10.6876	7.6855	0.28538	0.0:0.8204:0.0:0.1796	.	155;177;155	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	155;177;155	ENSP00000262077:A155T;ENSP00000444029:A155T	ENSP00000262077:A155T	A	-	1	0	NUP153	17783852	0.759000	0.28416	0.832000	0.32986	0.711000	0.40976	1.452000	0.35156	2.462000	0.83206	0.650000	0.86243	GCA	NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.423	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	55	0	C			17675873	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.985	T	T	17675873	C	T	17675873	3	4	84	1	0	0	0	0	1	0	0	0	10794	739	26	3	4044	3	NUP153	6	17675873	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		17675873	153439194	94	22289											
BTN2A1	11120	genome.wustl.edu	37	chr6	26463595	26463595	+	Frame_Shift_Del	DEL	T	T	-																															gagggacccctacggtggggTtgcgcctgccctgaaagagg																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:26463595delT	ENST00000312541.5	+	4	802	c.554delT	c.(553-555)gttfs	p.V185fs	BTN2A1_ENST00000429381.1_Frame_Shift_Del_p.V185fs|BTN2A1_ENST00000469185.1_Frame_Shift_Del_p.V185fs|BTN2A1_ENST00000541522.1_Frame_Shift_Del_p.V124fs	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	185					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TACGGTGGGGTTGCGCCTGCC	0.587																																																	0													92	83	86					6																	26463595		2203	4300	6503	SO:0001589	frameshift_variant	0			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.554delT	6.37:g.26463595delT	ENSP00000312158:p.Val185fs		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.A186fs	ENST00000312541.5	37	c.554	CCDS4613.1	6																																																																																			BTN2A1	-	pfam_CD80_C2-set	ENSG00000112763		0.587	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2		0	68	0	T	NM_007049		26463595	1	tier1		no_errors	ENST00000312541	ensembl	human	known	74_37	frame_shift_del	36.84	48	28	DEL	0.000	-	-	26463595	T	-	26463595	7	5	84	1	0	1	0	1	0	0	0	0	1564	1725	60	0	564	0	BTN2A1	6	26463595	Frame_Shift_Del	DEL	T	TCGA-L5-A8NJ-01A-11D-A36J-09	8787722	26463595	144651472	95	22290											
HLA-C	3107	genome.wustl.edu	37	chr6	31238055	31238056	+	Missense_Mutation	DNP	CC	CC	AA																															acgtgtatctctgctcttgtCcagaaggcaccaccacagct																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:31238055_31238056CC>AA	ENST00000376228.5	-	4	840_841	c.826_827GG>TT	c.(826-828)GGa>TTa	p.G276L	HLA-C_ENST00000383329.3_Missense_Mutation_p.G276L	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	276	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCTCTTGTCCAGAAGGCACC	0.609																																																	0																																										SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.826_827delinsAA	6.37:g.31238055_31238056delinsAA	ENSP00000365402:p.Gly276Leu		O02864|O02958|Q29643|Q9MY30	Missense_Mutation|Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.G276V|p.G276*	ENST00000376228.5	37	c.827|c.826	CCDS34393.1	6																																																																																			HLA-C	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000204525		0.609	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	0	32|31	0	C	NM_002117		31238055|31238056	-1	tier1	-	no_errors	ENST00000383329	ensembl	human	known	74_37	missense|nonsense	81.82	4	18	SNP	0.811|0.856	A	AA	31238056	CC	AA	31238055	3	1	84	1	0	0	0	0	1	0	0	0	7224	855	30	3	293	3	HLA-C	6	31238055	Missense_Mutation	DNP	CC	TCGA-L5-A8NJ-01A-11D-A36J-09	4774460	31238055	139877012	96	22291											
HLA-B	3106	genome.wustl.edu	37	chr6	31323162	31323163	+	Missense_Mutation	DNP	CC	CC	AA																															atgtgtatctctgctcttctCcagaaggcaccaccacagct																								rs151341358		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:31323162_31323163CC>AA	ENST00000412585.2	-	4	854_855	c.826_827GG>TT	c.(826-828)GGa>TTa	p.G276L		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	276	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTGCTCTTCTCCAGAAGGCACC	0.574									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0																																										SO:0001583	missense	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.826_827delinsAA	6.37:g.31323162_31323163delinsAA	ENSP00000399168:p.Gly276Leu		Q29764	Missense_Mutation|Nonsense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.G276V|p.G276*	ENST00000412585.2	37	c.827|c.826	CCDS34394.1	6																																																																																			HLA-B	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000234745		0.574	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4		0	59	0	C	NM_005514		31323162|31323163	-1			no_errors	ENST00000412585	ensembl	human	known	74_37	missense|nonsense	17.86	46	10	SNP	0.998|1.000	A	AA	31323163	CC	AA	31323162	3	1	84	1	0	0	0	0	1	0	0	0	7223	855	30	3	277	3	HLA-B	6	31323162	Missense_Mutation	DNP	CC	TCGA-L5-A8NJ-01A-11D-A36J-09	85107	31323162	139791905	97	22292											
NOTCH4	4855	genome.wustl.edu	37	chr6	32171621	32171621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccatgaaagcagggttGgctgtggcaggggtctatct	7	10	14	10	0	2	1	0	1	2	0	3	1	3	1	2	5	1	4	2	5	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:32171621G>T	ENST00000375023.3	-	20	3295	c.3157C>A	c.(3157-3159)Caa>Aaa	p.Q1053K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1053	EGF-like 27. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AAGCAGGGTTGGCTGTGGCAG	0.557																																																	0													67	38	48					6																	32171621		1507	2702	4209	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"Ankyrin repeat domain containing"	7884	protein-coding gene	gene with protein product		164951	"Notch (Drosophila) homolog 4", "Notch homolog 4 (Drosophila)"	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3157C>A	6.37:g.32171621G>T	ENSP00000364163:p.Gln1053Lys		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q1053K	ENST00000375023.3	37	c.3157	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365284	0.24684	.	.	ENSG00000204301	ENST00000375023	D	0.87412	-2.25	4.94	4.94	0.65067	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.176870	0.27236	N	0.020295	T	0.65606	0.2707	N	0.25890	0.77	0.80722	D	1	P	0.35107	0.484	B	0.32149	0.141	T	0.69997	-0.4993	10	0.06625	T	0.88	.	15.7021	0.77549	0.0:0.0:1.0:0.0	.	1053	Q99466	NOTC4_HUMAN	K	1053	ENSP00000364163:Q1053K	ENSP00000364163:Q1053K	Q	-	1	0	NOTCH4	32279599	0.056000	0.20664	1.000000	0.80357	0.993000	0.82548	1.350000	0.34010	2.571000	0.86741	0.561000	0.74099	CAA	NOTCH4	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000204301		0.557	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0	60	0	G			32171621	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.940	T	T	32171621	G	T	32171621	3	4	84	1	0	0	0	0	1	0	0	0	10590	1357	47	3	2898	3	NOTCH4	6	32171621	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	848459	32171621	138943446	98	22293											
HLA-DRB5	3127	genome.wustl.edu	37	chr6	32489822	32489822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagctccgtcaccgccCggtactcccccacgtcgctg	4	6	9	22	5	1	0	1	0	0	0	4	0	3	0	7	1	2	3	7	1	1	1	rs115417906	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:32489822C>T	ENST00000374975.3	-	2	292	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CGTCACCGCCCGGTACTCCCC	0.617																																																	0													38	35	36					6																	32489822		2160	4212	6372	SO:0001583	missense	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.230G>A	6.37:g.32489822C>T	ENSP00000364114:p.Arg77Gln			Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.R77Q	ENST00000374975.3	37	c.230	CCDS4751.1	6	302	0.1382783882783883	31	0.06300813008130081	57	0.1574585635359116	83	0.1451048951048951	131	0.17282321899736147	.	15.37	2.814317	0.50527	.	.	ENSG00000198502	ENST00000374975	T	0.00356	7.9	4.72	-2.23	0.06930	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	1.326340	0.05441	N	0.547586	T	0.00144	0.0004	M	0.84585	2.705	0.09310	N	1	B;B	0.32918	0.094;0.39	B;B	0.20184	0.016;0.028	T	0.19386	-1.0307	10	0.66056	D	0.02	.	9.4942	0.38978	0.6955:0.1936:0.1109:0.0	.	4;77	Q29973;Q30154	.;DRB5_HUMAN	Q	77	ENSP00000364114:R77Q	ENSP00000364114:R77Q	R	-	2	0	HLA-DRB5	32597800	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	-0.525000	0.06214	-0.241000	0.09681	0.430000	0.28490	CGG	HLA-DRB5	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000198502		0.617	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2		0	31	0	C	NM_002125		32489822	-1			no_errors	ENST00000374975	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.000	T	T	32489822	C	T	32489822	3	4	84	1	0	0	0	0	1	0	0	0	7236	652	23	1	590	1	HLA-DRB5	6	32489822	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	318201	32489822	138625245	99	22294											
SRPK1	6732	genome.wustl.edu	37	chr6	35838068	35838068	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatttataccaagtttttcTtgggtcattttattaggtgg	8	20	8	5	0	2	0	1	0	1	0	2	0	2	0	1	3	1	1	1	3	6	10			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:35838068T>C	ENST00000373825.2	-	10	1266	c.981A>G	c.(979-981)caA>caG	p.Q327Q	SRPK1_ENST00000373822.1_Silent_p.Q220Q|SRPK1_ENST00000423325.2_Silent_p.Q311Q					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CAAGTTTTTCTTGGGTCATTT	0.358																																					NSCLC(31;67 978 16289 24856 26454)												0													94	87	90					6																	35838068		1824	4069	5893	SO:0001819	synonymous_variant	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.981A>G	6.37:g.35838068T>C				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q327	ENST00000373825.2	37	c.981	CCDS47415.1	6																																																																																			SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000096063		0.358	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3	-	0	48	0	T	NM_003137		35838068	-1	tier1	-	no_errors	ENST00000373825	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.963	C	C	35838068	T	C	35838068	2	2	84	1	0	0	0	0	0	0	0	1	15206	1606	56	4		4	SRPK1	6	35838068	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	3348246	35838068	135276999	100	22295											
TREM2	54209	genome.wustl.edu	37	chr6	41126735	41126735	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggctgctagaatcttgatGagaaagatgcaggccaggag	12	8	14	7	0	1	4	0	2	1	3	1	6	1	5	1	3	2	3	1	3	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:41126735G>A	ENST00000373113.3	-	4	645	c.552C>T	c.(550-552)ctC>ctT	p.L184L	TREM2_ENST00000338469.3_Intron|TREM2_ENST00000373122.4_Missense_Mutation_p.H198Y	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	184					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAATCTTGATGAGAAAGATGC	0.577																																																	0													51	56	55					6																	41126735		2203	4300	6503	SO:0001819	synonymous_variant	0			AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"Immunoglobulin superfamily / V-set domain containing"	17761	protein-coding gene	gene with protein product		605086	"triggering receptor expressed on myeloid cells 2a"			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.552C>T	6.37:g.41126735G>A			Q8N5H8|Q8WYN6	Missense_Mutation	SNP	pfam_Ig_V-set	p.H198Y	ENST00000373113.3	37	c.592	CCDS4852.1	6																																																																																			TREM2	-	NULL	ENSG00000095970		0.577	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM2	HGNC	protein_coding	OTTHUMT00000040499.1	-	0	57	0	G	NM_018965		41126735	-1	tier1	-	no_errors	ENST00000373122	ensembl	human	known	74_37	missense	34.04	31	16	SNP	0.119	A	A	41126735	G	A	41126735	2	1	84	1	0	0	0	0	0	0	0	1	16519	1277	45	3		3	TREM2	6	41126735	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	5288667	41126735	129988332	101	22296											
BMP5	653	genome.wustl.edu	37	chr6	55739327	55739327	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggctgggtatccctttcTtgcccctctggtctcttctg	3	15	10	13	0	4	1	0	0	4	1	6	1	5	1	3	3	1	2	3	3	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:55739327T>G	ENST00000370830.3	-	1	1035	c.337A>C	c.(337-339)Aga>Cga	p.R113R	BMP5_ENST00000446683.2_Silent_p.R113R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	113					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATCCCTTTCTTGCCCCTCTG	0.522																																																	0													135	117	123					6																	55739327		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.337A>C	6.37:g.55739327T>G			B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R113	ENST00000370830.3	37	c.337	CCDS4958.1	6																																																																																			BMP5	-	pfam_TGF-b_N	ENSG00000112175		0.522	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	-	0	64	0	T			55739327	-1	tier1	-	no_errors	ENST00000370830	ensembl	human	known	74_37	silent	32.56	29	14	SNP	0.881	G	G	55739327	T	G	55739327	2	3	84	1	0	0	0	0	0	0	0	1	1465	1617	56	4		4	BMP5	6	55739327	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	14612592	55739327	115375740	102	22297											
BAI3	577	genome.wustl.edu	37	chr6	69665964	69665964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagccagtgctcagtaaCgtgctcgaatgggactcagc	9	8	14	10	2	2	0	2	0	0	0	3	3	2	2	1	2	5	3	1	2	2	1	rs200369422		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:69665964C>A	ENST00000370598.1	+	7	2065	c.1244C>A	c.(1243-1245)aCg>aAg	p.T415K		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	415	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGCTCAGTAACGTGCTCGAAT	0.537																																																	0													100	88	92					6																	69665964		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1244C>A	6.37:g.69665964C>A	ENSP00000359630:p.Thr415Lys		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.T415K	ENST00000370598.1	37	c.1244	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150182	0.78001	.	.	ENSG00000135298	ENST00000370598	T	0.70869	-0.52	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.83533	0.5275	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.84679	0.0716	10	0.72032	D	0.01	.	19.8472	0.96713	0.0:1.0:0.0:0.0	.	415	O60242	BAI3_HUMAN	K	415	ENSP00000359630:T415K	ENSP00000359630:T415K	T	+	2	0	BAI3	69722685	1.000000	0.71417	0.754000	0.31244	0.171000	0.22731	7.818000	0.86416	2.701000	0.92244	0.591000	0.81541	ACG	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000135298		0.537	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	27	0	C			69665964	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	86.67	4	26	SNP	1.000	A	A	69665964	C	A	69665964	3	1	84	1	0	0	0	0	1	0	0	0	1301	536	19	2	1262	2	BAI3	6	69665964	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	13926637	69665964	101449103	103	22298											
SNX14	57231	genome.wustl.edu	37	chr6	86224314	86224314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgtattttcagcacGgtttgcattatttttaaaca	9	19	5	8	1	3	0	1	0	2	0	4	0	3	0	0	1	3	4	0	1	4	8	rs377525323		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:86224314G>A	ENST00000314673.3	-	24	2478	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	SNX14_ENST00000505648.1_Missense_Mutation_p.R716C|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.R759C|SNX14_ENST00000513865.1_Missense_Mutation_p.R487C|SNX14_ENST00000346348.3_Missense_Mutation_p.R715C	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	768					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTTTCAGCACGGTTTGCATTA	0.299																																																	0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	120	122	121		2143,2302	5.4	1	6		121	1,8597		0,1,4298	no	missense,missense	SNX14	NM_020468.3,NM_153816.3	180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	715/894,768/947	86224314	1,13003	2203	4299	6502	SO:0001583	missense	0			AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"Sorting nexins"	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2302C>T	6.37:g.86224314G>A	ENSP00000313121:p.Arg768Cys		B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.R768C	ENST00000314673.3	37	c.2302	CCDS5004.1	6	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509791	0.85282	0.0	1.16E-4	ENSG00000135317	ENST00000346348;ENST00000369628;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216;ENST00000418862	T;T;T;T;T;T	0.32988	1.87;1.87;1.43;1.87;1.86;1.85	5.36	5.36	0.76844	.	0.053835	0.85682	D	0.000000	T	0.29389	0.0732	N	0.22421	0.69	0.80722	D	1	D;B;D;D	0.76494	0.999;0.41;0.998;0.999	P;B;P;P	0.59221	0.854;0.017;0.719;0.854	T	0.02596	-1.1136	10	0.39692	T	0.17	-12.1882	19.4565	0.94892	0.0:0.0:1.0:0.0	.	759;715;768;716	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	C	715;225;768;487;716;759;686;133	ENSP00000257769:R715C;ENSP00000313121:R768C;ENSP00000420938:R487C;ENSP00000427380:R716C;ENSP00000358641:R759C;ENSP00000425630:R686C	ENSP00000313121:R768C	R	-	1	0	SNX14	86281033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.301000	0.96167	2.682000	0.91365	0.650000	0.86243	CGT	SNX14	-	NULL	ENSG00000135317		0.299	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	HGNC	protein_coding	OTTHUMT00000041393.2	-	0	34	0	G	NM_153816		86224314	-1	tier1	-	no_errors	ENST00000314673	ensembl	human	known	74_37	missense	38.46	8	5	SNP	1.000	A	A	86224314	G	A	86224314	3	1	84	1	0	0	0	0	1	0	0	0	14930	1116	39	1	562	1	SNX14	6	86224314	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	16558350	86224314	84890753	104	22299											
ORC3L	23595	genome.wustl.edu	37	chr6	88372833	88372833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaattgccctccatactGcactcaacaatccttactat	11	11	4	15	2	1	0	1	0	0	0	3	1	3	0	3	0	5	1	3	0	6	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:88372833G>A	ENST00000392844.3	+	17	1852	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	ORC3_ENST00000546266.1_Missense_Mutation_p.A459T|ORC3_ENST00000257789.4_Missense_Mutation_p.A603T	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	602					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCTCCATACTGCACTCAACAA	0.443																																																	0													90	77	81					6																	88372833		2203	4300	6503	SO:0001583	missense	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.1804G>A	6.37:g.88372833G>A	ENSP00000376586:p.Ala602Thr		A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Missense_Mutation	SNP	pfam_ORC3	p.A603T	ENST00000392844.3	37	c.1807	CCDS43486.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.675344	0.96764	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000546266	T;T;T	0.18016	2.59;2.59;2.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.44582	0.1300	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.934;1.0;1.0	T	0.47586	-0.9106	10	0.45353	T	0.12	0.4143	18.6904	0.91581	0.0:0.0:1.0:0.0	.	540;602;603	B4E014;Q9UBD5;Q9UBD5-2	.;ORC3_HUMAN;.	T	602;603;459	ENSP00000376586:A602T;ENSP00000257789:A603T;ENSP00000444695:A459T	ENSP00000257789:A603T	A	+	1	0	ORC3	88429552	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.267000	0.89874	2.712000	0.92718	0.561000	0.74099	GCA	ORC3	-	NULL	ENSG00000135336		0.443	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2	-	0	51	0	G			88372833	1	tier1	-	no_errors	ENST00000257789	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	88372833	G	A	88372833	3	1	84	1	0	0	0	0	1	0	0	0	11302	1319	46	3	1873	3	ORC3L	6	88372833	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	2148519	88372833	82742234	105	22300											
GJA10	84694	genome.wustl.edu	37	chr6	90604691	90604691	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaccagatctgtgctggaAgtaggattcatgataggcca	11	11	12	7	0	2	3	1	2	1	1	2	5	2	5	2	3	1	2	2	3	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:90604691A>C	ENST00000369352.1	+	1	504	c.504A>C	c.(502-504)gaA>gaC	p.E168D		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	168					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTGTGCTGGAAGTAGGATTCA	0.458																																																	0													142	137	139					6																	90604691		2203	4300	6503	SO:0001583	missense	0			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"Ion channels / Gap junction proteins (connexins)"	16995	protein-coding gene	gene with protein product	"connexin 62"	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.504A>C	6.37:g.90604691A>C	ENSP00000358358:p.Glu168Asp		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.E168D	ENST00000369352.1	37	c.504	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895786	0.72639	.	.	ENSG00000135355	ENST00000369352	D	0.97553	-4.43	4.91	3.71	0.42584	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.97356	0.9135	M	0.72894	2.215	0.45528	D	0.998484	D	0.89917	1.0	D	0.91635	0.999	D	0.97530	1.0079	10	0.87932	D	0	.	10.8337	0.46675	0.9248:0.0:0.0752:0.0	.	168	Q969M2	CXA10_HUMAN	D	168	ENSP00000358358:E168D	ENSP00000358358:E168D	E	+	3	2	GJA10	90661412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.036000	0.49767	0.867000	0.35654	0.460000	0.39030	GAA	GJA10	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000135355		0.458	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	-	0	55	0	A	NM_032602		90604691	1	tier1	-	no_errors	ENST00000369352	ensembl	human	known	74_37	missense	40.48	25	17	SNP	1.000	C	C	90604691	A	C	90604691	3	2	84	1	0	0	0	0	1	0	0	0	6427	69	3	4	506	4	GJA10	6	90604691	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2231858	90604691	80510376	106	22301											
SCML4	256380	genome.wustl.edu	37	chr6	108066254	108066254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcatcgcacaggaggcttCggcacagcttggcgaggaag	9	6	16	10	3	1	0	1	0	0	0	3	3	1	2	0	6	1	4	0	6	1	2	rs555376188		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:108066254C>T	ENST00000369020.3	-	5	826	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	SCML4_ENST00000369022.2_Missense_Mutation_p.R136Q|SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369021.3_Missense_Mutation_p.R165Q	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	194					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R165Q(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CAGGAGGCTTCGGCACAGCTT	0.587																																																	2	Substitution - Missense(2)	large_intestine(2)											65	55	59					6																	108066254		2203	4300	6503	SO:0001583	missense	0				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"Sterile alpha motif (SAM) domain containing"	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.581G>A	6.37:g.108066254C>T	ENSP00000358016:p.Arg194Gln		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588	p.R165Q	ENST00000369020.3	37	c.494	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900077	0.52227	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.38	3.44	0.39384	.	0.169399	0.53938	N	0.000054	T	0.14700	0.0355	L	0.37750	1.13	0.58432	D	0.999999	B;B;P	0.39003	0.393;0.327;0.654	B;B;B	0.35312	0.081;0.053;0.2	T	0.03662	-1.1015	10	0.11794	T	0.64	.	12.8262	0.57721	0.0:0.8468:0.0:0.1532	.	194;194;165	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	Q	136;194;165;165	ENSP00000358018:R136Q;ENSP00000358016:R194Q;ENSP00000358017:R165Q;ENSP00000404688:R165Q	ENSP00000358016:R194Q	R	-	2	0	SCML4	108172947	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	2.326000	0.43849	1.475000	0.48197	0.655000	0.94253	CGA	SCML4	-	pfam_DUF3588	ENSG00000146285		0.587	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3	-	0	21	0	C	XM_171128		108066254	-1	tier1	-	no_errors	ENST00000369021	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.995	T	T	108066254	C	T	108066254	3	4	84	1	0	0	0	0	1	0	0	0	13956	884	31	1	679	1	SCML4	6	108066254	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	17461563	108066254	63048813	107	22302											
REV3L	5980	genome.wustl.edu	37	chr6	111696316	111696316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggagaaagaatagcatgtGaccgttttttcctgaaagac	14	10	11	6	1	0	5	0	2	0	3	1	7	1	5	2	1	1	2	2	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:111696316G>A	ENST00000358835.3	-	14	3696	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L	REV3L_ENST00000435970.1_Missense_Mutation_p.S1003L|REV3L_ENST00000368805.1_Missense_Mutation_p.S1081L|REV3L_ENST00000368802.3_Missense_Mutation_p.S1081L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1081					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AATAGCATGTGACCGTTTTTT	0.323								DNA polymerases (catalytic subunits)																																									0													110	106	108					6																	111696316		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3242C>T	6.37:g.111696316G>A	ENSP00000351697:p.Ser1081Leu		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S1081L	ENST00000358835.3	37	c.3242	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830770	0.32329	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01495	4.93;4.93;4.93;4.83	5.53	5.53	0.82687	Ribonuclease H-like (1);	0.453363	0.22104	N	0.064576	T	0.00875	0.0029	L	0.36672	1.1	0.25105	N	0.990758	B	0.20887	0.049	B	0.14023	0.01	T	0.44697	-0.9311	10	0.56958	D	0.05	.	12.7501	0.57304	0.0753:0.0:0.9247:0.0	.	1081	O60673	DPOLZ_HUMAN	L	1081;1081;1081;1003	ENSP00000357792:S1081L;ENSP00000357795:S1081L;ENSP00000351697:S1081L;ENSP00000402003:S1003L	ENSP00000351697:S1081L	S	-	2	0	REV3L	111803009	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	5.070000	0.64376	2.584000	0.87258	0.585000	0.79938	TCA	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	38	0	G	NM_002912		111696316	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.863	A	A	111696316	G	A	111696316	3	1	84	1	0	0	0	0	1	0	0	0	13285	1294	45	3	6230	3	REV3L	6	111696316	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3630062	111696316	59418751	108	22303											
DSE	29940	genome.wustl.edu	37	chr6	116757008	116757008	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgatcaaaactcatttacTtttgctcccaatggtgtgcc	9	14	6	12	0	2	1	2	1	0	0	3	1	3	1	3	1	4	1	3	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:116757008T>G	ENST00000331677.3	+	7	1821	c.1377T>G	c.(1375-1377)acT>acG	p.T459T	DSE_ENST00000359564.2_Silent_p.T459T|DSE_ENST00000452085.3_Silent_p.T459T|DSE_ENST00000537543.1_Silent_p.T478T			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	459					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ACTCATTTACTTTTGCTCCCA	0.393																																																	0													67	59	61					6																	116757008		2203	4300	6503	SO:0001819	synonymous_variant	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1377T>G	6.37:g.116757008T>G			Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.T478	ENST00000331677.3	37	c.1434	CCDS5107.1	6																																																																																			DSE	-	NULL	ENSG00000111817		0.393	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	-	0	30	0	T	NM_013352		116757008	1	tier1	-	no_errors	ENST00000537543	ensembl	human	known	74_37	silent	87.18	5	34	SNP	0.962	G	G	116757008	T	G	116757008	2	3	84	1	0	0	0	0	0	0	0	1	4788	1596	56	4		4	DSE	6	116757008	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	5060692	116757008	54358059	109	22304											
TRDN	10345	genome.wustl.edu	37	chr6	123653049	123653049	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctttagggaagctggaacTttctcttctttccctttaat	7	18	6	10	0	2	0	0	0	2	0	5	2	4	2	2	2	2	1	2	2	4	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:123653049T>C	ENST00000398178.3	-	23	1467	c.1446A>G	c.(1444-1446)aaA>aaG	p.K482K	TRDN_ENST00000334268.4_Silent_p.K482K	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	482					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AAGCTGGAACTTTCTCTTCTT	0.328																																																	0													74	71	72					6																	123653049		1794	4043	5837	SO:0001819	synonymous_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1446A>G	6.37:g.123653049T>C			A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	pfam_Asp-B-hydro/Triadin_dom	p.K482	ENST00000398178.3	37	c.1446	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.328	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		-	0	48	0	T			123653049	-1	tier1	-	no_errors	ENST00000398178	ensembl	human	known	74_37	silent	47.50	21	19	SNP	0.014	C	C	123653049	T	C	123653049	2	2	84	1	0	0	0	0	0	0	0	1	16516	1606	56	4		4	TRDN	6	123653049	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	6896041	123653049	47462018	110	22305											
HEY2	23493	genome.wustl.edu	37	chr6	126080933	126080933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccgaccctgggggacagaAgttggagctttttaaatttt	10	13	11	7	1	0	1	0	0	0	1	0	4	0	3	2	3	2	2	2	3	4	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:126080933A>C	ENST00000368364.3	+	5	1196	c.999A>C	c.(997-999)gaA>gaC	p.E333D	HEY2_ENST00000368365.1_Missense_Mutation_p.E287D	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	333					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGACAGAAGTTGGAGCTT	0.478																																																	0													33	40	38					6																	126080933		2203	4300	6503	SO:0001583	missense	0			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"Basic helix-loop-helix proteins"	4881	protein-coding gene	gene with protein product		604674	"hairy/enhancer-of-split related with YRPW motif 2"			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.999A>C	6.37:g.126080933A>C	ENSP00000357348:p.Glu333Asp			Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom,prints_Antifreeze_1	p.E333D	ENST00000368364.3	37	c.999	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317293	0.60524	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.74947	-0.79;-0.89	5.43	3.06	0.35304	.	0.062472	0.64402	D	0.000008	T	0.51753	0.1693	L	0.54323	1.7	0.41360	D	0.987424	P	0.37525	0.598	B	0.34038	0.174	T	0.54906	-0.8223	10	0.72032	D	0.01	-15.0884	9.0759	0.36522	0.7229:0.0:0.2771:0.0	.	333	Q9UBP5	HEY2_HUMAN	D	287;333	ENSP00000357349:E287D;ENSP00000357348:E333D	ENSP00000357348:E333D	E	+	3	2	HEY2	126122626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.194000	0.51005	0.377000	0.24735	0.459000	0.35465	GAA	HEY2	-	NULL	ENSG00000135547		0.478	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	-	0	46	0	A			126080933	1	tier1	-	no_errors	ENST00000368364	ensembl	human	known	74_37	missense	46.34	22	19	SNP	1.000	C	C	126080933	A	C	126080933	3	2	84	1	0	0	0	0	1	0	0	0	7106	69	3	4	1017	4	HEY2	6	126080933	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2427884	126080933	45034134	111	22306											
CENPW	387103	genome.wustl.edu	37	chr6	126667400	126667400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgattagcagaagagtccaGgacaaacgcttgtgcgagta	13	8	12	8	3	0	2	0	0	0	2	2	5	1	3	1	1	3	3	1	1	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:126667400G>T	ENST00000368328.4	+	2	276	c.176G>T	c.(175-177)aGg>aTg	p.R59M	CENPW_ENST00000368326.1_Nonsense_Mutation_p.G46*|CENPW_ENST00000368325.1_Missense_Mutation_p.R74M			Q5EE01	CENPW_HUMAN	centromere protein W	59					CENP-A containing nucleosome assembly (GO:0034080)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|kinetochore (GO:0000776)|nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(2)|large_intestine(1)|lung(3)	6						GAAGAGTCCAGGACAAACGCT	0.378																																																	0													121	116	118					6																	126667400		2203	4300	6503	SO:0001583	missense	0			BC039556	CCDS34529.1, CCDS69196.1, CCDS75516.1	6q22.32	2013-11-05	2010-04-16	2010-04-16	ENSG00000203760	ENSG00000203760			21488	protein-coding gene	gene with protein product	"cancer-upregulated gene 2"	611264	"chromosome 6 open reading frame 173"	C6orf173		17610844, 19070575	Standard	NM_001286524		Approved	CUG2	uc003qao.3	Q5EE01	OTTHUMG00000015518	ENST00000368328.4:c.176G>T	6.37:g.126667400G>T	ENSP00000357311:p.Arg59Met		A6NIR0|A6NJC2	Nonsense_Mutation	SNP	NULL	p.G46*	ENST00000368328.4	37	c.136	CCDS34529.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.311511|5.311511	0.95655|0.95655	.|.	.|.	ENSG00000203760|ENSG00000203760	ENST00000368326|ENST00000368325;ENST00000368328	.|T	.|0.22134	.|1.97	5.74|5.74	4.85|4.85	0.62838|0.62838	.|Histone-fold (1);	.|0.000000	.|0.45361	.|D	.|0.000366	.|T	.|0.09642	.|0.0237	.|.	.|.	.|.	0.33039|0.33039	D|D	0.531243|0.531243	.|P	.|0.46912	.|0.886	.|B	.|0.38562	.|0.276	.|T	.|0.04870	.|-1.0921	.|9	0.87932|0.87932	D|D	0|0	-0.1391|-0.1391	11.909|11.909	0.52729|0.52729	0.0:0.0:0.8258:0.1741|0.0:0.0:0.8258:0.1741	.|.	.|59	.|Q5EE01	.|CENPW_HUMAN	X|M	46|74;59	.|ENSP00000357311:R59M	ENSP00000357309:G46X|ENSP00000357308:R74M	G|R	+|+	1|2	0|0	CENPW|CENPW	126709093|126709093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.775000|5.775000	0.68915|0.68915	1.375000|1.375000	0.46248|0.46248	0.655000|0.655000	0.94253|0.94253	GGA|AGG	CENPW	-	NULL	ENSG00000203760		0.378	CENPW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPW	HGNC	protein_coding	OTTHUMT00000042104.1		0	70	0	G			126667400	1			no_errors	ENST00000368326	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T	T	126667400	G	T	126667400	3	4	84	1	0	0	0	0	1	0	0	0	3251	1000	35	3	182	3	CENPW	6	126667400	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	586467	126667400	44447667	112	22307											
KIAA1244	57221	genome.wustl.edu	37	chr6	138655319	138655319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctggactcttataGgactgccagggagtttgaca	8	11	12	10	0	1	1	0	1	1	0	1	4	1	4	2	3	3	3	2	3	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:138655319G>A	ENST00000251691.4	+	33	5502	c.5336G>A	c.(5335-5337)aGg>aAg	p.R1779K		NM_020340.4	NP_065073.3			KIAA1244									p.R1708K(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACTCTTATAGGACTGCCAGG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											33	35	35					6																	138655319		2203	4300	6503	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21213	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 33"		"chromosome 6 open reading frame 92"	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5336G>A	6.37:g.138655319G>A	ENSP00000251691:p.Arg1779Lys			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.R1779K	ENST00000251691.4	37	c.5336	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945719	0.73672	.	.	ENSG00000112379	ENST00000251691	T	0.17528	2.27	5.02	5.02	0.67125	.	0.264686	0.41712	D	0.000829	T	0.13841	0.0335	N	0.22421	0.69	0.50171	D	0.999855	D	0.64830	0.994	D	0.70716	0.97	T	0.01819	-1.1267	10	0.05959	T	0.93	-25.6408	18.3435	0.90313	0.0:0.0:1.0:0.0	.	1779	Q5TH69	BIG3_HUMAN	K	1779	ENSP00000251691:R1779K	ENSP00000251691:R1779K	R	+	2	0	KIAA1244	138697012	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	7.925000	0.87563	2.341000	0.79615	0.411000	0.27672	AGG	KIAA1244	-	NULL	ENSG00000112379		0.562	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4		0	22	0	G	NM_020340		138655319	1			no_errors	ENST00000251691	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	138655319	G	A	138655319	3	1	84	1	0	0	0	0	1	0	0	0	8244	1000	35	3	5466	3	KIAA1244	6	138655319	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	11987919	138655319	32459748	113	22308											
SYNE1	23345	genome.wustl.edu	37	chr6	152668334	152668334	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcatttgaagattgttcaAacggtcttcaaaaccagcaa	14	13	6	8	1	4	2	3	1	1	1	4	2	4	2	1	1	3	2	1	1	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:152668334A>C	ENST00000367255.5	-	73	12539	c.11938T>G	c.(11938-11940)Ttg>Gtg	p.L3980V	SYNE1_ENST00000448038.1_Missense_Mutation_p.L3909V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L3909V|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3980V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3980					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGATTGTTCAAACGGTCTTCA	0.393										HNSCC(10;0.0054)																																							0													133	118	123					6																	152668334		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11938T>G	6.37:g.152668334A>C	ENSP00000356224:p.Leu3980Val		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L3980V	ENST00000367255.5	37	c.11938	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	A	11.42	1.632921	0.29068	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.37235	1.35;1.21;1.35;1.21	5.91	0.895	0.19247	.	0.000000	0.47852	D	0.000209	T	0.37571	0.1008	M	0.66939	2.045	0.80722	D	1	D;D;D;B	0.89917	1.0;1.0;1.0;0.0	D;D;D;B	0.83275	0.996;0.996;0.996;0.0	T	0.22836	-1.0205	10	0.21540	T	0.41	.	10.2639	0.43443	0.5718:0.0:0.4282:0.0	.	3980;3980;3980;3909	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	3980;3909;3980;3909	ENSP00000356224:L3980V;ENSP00000396024:L3909V;ENSP00000265368:L3980V;ENSP00000390975:L3909V	ENSP00000265368:L3980V	L	-	1	2	SYNE1	152710027	0.998000	0.40836	0.994000	0.49952	0.990000	0.78478	1.184000	0.32053	-0.061000	0.13110	0.533000	0.62120	TTG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	46	0	A	NM_182961		152668334	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.966	C	C	152668334	A	C	152668334	3	2	84	1	0	0	0	0	1	0	0	0	15492	11	1	4	14824	4	SYNE1	6	152668334	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	14013015	152668334	18446733	114	22309											
TFB1M	51106	genome.wustl.edu	37	chr6	155578990	155578990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagagtctgtaattctctgCgtcatcctcttctttttctt	5	20	5	11	1	6	1	1	0	5	1	8	1	7	1	1	0	1	1	1	0	2	7	rs149125723		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr6:155578990C>T	ENST00000367166.4	-	7	1076	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	RP11-477D19.2_ENST00000435295.1_RNA	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TAATTCTCTGCGTCATCCTCT	0.418																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	101	92	95		1021	-10.3	0	6	dbSNP_134	95	0,8600		0,0,4300	no	missense	TFB1M	NM_016020.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	341/347	155578990	1,13005	2203	4300	6503	SO:0001583	missense	0			AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"dimethyladenosine transferase 1, mitochondrial"	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.1021G>A	6.37:g.155578990C>T	ENSP00000356134:p.Ala341Thr		Q05DR0|Q9Y384	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N	p.A341T	ENST00000367166.4	37	c.1021	CCDS5248.1	6	.	.	.	.	.	.	.	.	.	.	C	7.831	0.719902	0.15372	2.27E-4	0.0	ENSG00000029639	ENST00000367166	T	0.29917	1.55	5.17	-10.3	0.00346	.	3.037720	0.00812	N	0.001509	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09164	-1.0687	10	0.15952	T	0.53	7.0016	6.3301	0.21264	0.0869:0.4737:0.2644:0.1749	.	341	Q8WVM0	TFB1M_HUMAN	T	341	ENSP00000356134:A341T	ENSP00000356134:A341T	A	-	1	0	TFB1M	155620682	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.986000	0.01484	-2.210000	0.00738	-0.492000	0.04666	GCA	TFB1M	-	NULL	ENSG00000029639		0.418	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB1M	HGNC	protein_coding	OTTHUMT00000042809.1	-	0	49	0	C			155578990	-1	tier1	rs149125723	no_errors	ENST00000367166	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T	T	155578990	C	T	155578990	3	4	84	1	0	0	0	0	1	0	0	0	15840	768	27	1	23	1	TFB1M	6	155578990	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2910656	155578990	15536077	115	22310											
FOXK1	221937	genome.wustl.edu	37	chr7	4801842	4801842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccctttgcagctccttgCgacccaagcgagttcatccg	7	9	9	16	3	1	0	1	0	0	0	3	2	3	0	4	0	5	3	4	0	1	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:4801842C>T	ENST00000328914.4	+	9	1949	c.1949C>T	c.(1948-1950)gCg>gTg	p.A650V	FOXK1_ENST00000446823.1_Missense_Mutation_p.A487V	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCTCCTTGCGACCCAAGCG	0.642																																																	0													43	28	33					7																	4801842		2144	4202	6346	SO:0001583	missense	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1949C>T	7.37:g.4801842C>T	ENSP00000328720:p.Ala650Val			Missense_Mutation	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.A650V	ENST00000328914.4	37	c.1949	CCDS34591.1	7	.	.	.	.	.	.	.	.	.	.	c	22.6	4.308002	0.81247	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.97186	-3.91;-4.28	4.82	4.82	0.62117	.	0.198339	0.42682	D	0.000672	D	0.97766	0.9267	L	0.58810	1.83	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	D	0.98050	1.0387	10	0.51188	T	0.08	.	15.0709	0.72037	0.0:1.0:0.0:0.0	.	650;487	P85037;P85037-2	FOXK1_HUMAN;.	V	487;406;650;533	ENSP00000394442:A487V;ENSP00000328720:A650V	ENSP00000328720:A650V	A	+	2	0	FOXK1	4768368	1.000000	0.71417	0.988000	0.46212	0.613000	0.37349	5.279000	0.65597	2.232000	0.73038	0.556000	0.70494	GCG	FOXK1	-	NULL	ENSG00000164916		0.642	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2		0	55	0	C			4801842	1			no_errors	ENST00000328914	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	4801842	C	T	4801842	3	4	84	1	0	0	0	0	1	0	0	0	6038	768	27	1	1983	1	FOXK1	7	4801842	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		4801842	154336821	116	22311											
BZW2	28969	genome.wustl.edu	37	chr7	16722452	16722452	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatttggagaaggcattTgaagatgaaatgaaaaaggt	18	10	12	1	0	0	5	0	3	0	2	0	6	0	5	0	3	0	2	0	3	7	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:16722452T>A	ENST00000433922.2	+	5	565	c.387T>A	c.(385-387)ttT>ttA	p.F129L	BZW2_ENST00000405202.1_Missense_Mutation_p.F53L|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000258761.3_Missense_Mutation_p.F129L|BZW2_ENST00000452975.2_Missense_Mutation_p.F129L	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	129					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGAAGGCATTTGAAGATGAAA	0.313																																																	0													47	50	49					7																	16722452		2202	4298	6500	SO:0001583	missense	0			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.387T>A	7.37:g.16722452T>A	ENSP00000397249:p.Phe129Leu		A4D123|Q3B779|Q96JW5|Q9H3F7	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.F129L	ENST00000433922.2	37	c.387	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	T	10.01	1.234675	0.22626	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000452975;ENST00000405202;ENST00000446596;ENST00000438834;ENST00000430000	T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.62	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	L	0.31120	0.905	0.54753	D	0.999988	B;B;B	0.14012	0.001;0.009;0.001	B;B;B	0.15484	0.001;0.013;0.001	T	0.22452	-1.0216	10	0.02654	T	1	-11.5867	11.4004	0.49866	0.0:0.0707:0.0:0.9293	.	129;129;129	E7ETZ4;Q96JW5;Q9Y6E2	.;.;BZW2_HUMAN	L	129;129;129;129;53;129;129;129	ENSP00000403481:F129L;ENSP00000258761:F129L;ENSP00000397249:F129L;ENSP00000411715:F129L;ENSP00000385577:F53L;ENSP00000412750:F129L;ENSP00000415924:F129L;ENSP00000416531:F129L	ENSP00000258761:F129L	F	+	3	2	BZW2	16688977	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.602000	0.46257	0.972000	0.38314	0.528000	0.53228	TTT	BZW2	-	NULL	ENSG00000136261		0.313	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	-	0	56	0	T	NM_014038		16722452	1	tier1	-	no_errors	ENST00000258761	ensembl	human	known	74_37	missense	29.70	71	30	SNP	1.000	A	A	16722452	T	A	16722452	3	1	84	1	0	0	0	0	1	0	0	0	1583	1809	63	5	401	5	BZW2	7	16722452	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	11920610	16722452	142416211	117	22312											
SP8	221833	genome.wustl.edu	37	chr7	20824392	20824392	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttggggcagtcgcaggtGgcgcggccggagtagcggcg	5	5	21	10	6	0	0	0	0	0	0	1	1	0	1	1	7	1	4	1	7	1	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:20824392G>T	ENST00000361443.4	-	3	1227	c.990C>A	c.(988-990)gcC>gcA	p.A330A	SP8_ENST00000418710.2_Silent_p.A348A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	330					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGTCGCAGGTGGCGCGGCCGG	0.776																																																	0													3	4	4					7																	20824392		1885	3744	5629	SO:0001819	synonymous_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.990C>A	7.37:g.20824392G>T			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.A348	ENST00000361443.4	37	c.1044	CCDS5372.1	7																																																																																			SP8	-	NULL	ENSG00000164651		0.776	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2	-	0	8	0	G			20824392	-1	tier1	-	no_errors	ENST00000418710	ensembl	human	known	74_37	silent	26.09	17	6	SNP	1.000	T	T	20824392	G	T	20824392	2	4	84	1	0	0	0	0	0	0	0	1	15015	1335	47	3		3	SP8	7	20824392	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	4101940	20824392	138314271	118	22313											
DNAH11	8701	genome.wustl.edu	37	chr7	21784185	21784185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtgatttgtttcagagaAgaatgctggaaactgcttat	12	15	10	4	0	1	3	1	1	0	2	1	5	1	4	0	1	3	3	0	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:21784185A>G	ENST00000409508.3	+	50	8315	c.8284A>G	c.(8284-8286)Aga>Gga	p.R2762G	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2769G	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2769					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTTCAGAGAAGAATGCTGGA	0.368									Kartagener syndrome																																								0													95	92	93					7																	21784185		1856	4106	5962	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8284A>G	7.37:g.21784185A>G	ENSP00000475939:p.Arg2762Gly		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R2769G	ENST00000409508.3	37	c.8305		7	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447895	0.43429	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.91	5.91	0.95273	.	0.226724	0.43260	D	0.000595	T	0.18215	0.0437	.	.	.	0.19945	N	0.999942	B	0.13594	0.008	B	0.11329	0.006	T	0.11842	-1.0571	9	0.30854	T	0.27	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	2769	Q96DT5	DYH11_HUMAN	G	2769	ENSP00000330671:R2769G	ENSP00000330671:R2769G	R	+	1	2	DNAH11	21750710	0.771000	0.28555	0.717000	0.30585	0.953000	0.61014	1.165000	0.31822	2.254000	0.74563	0.533000	0.62120	AGA	DNAH11	-	superfamily_P-loop_NTPase	ENSG00000105877		0.368	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	51	0	A	NM_003777		21784185	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	19.28	67	16	SNP	0.972	G	G	21784185	A	G	21784185	3	3	84	1	0	0	0	0	1	0	0	0	4613	64	3	4	8504	4	DNAH11	7	21784185	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	959793	21784185	137354478	119	22314											
PRR15	222171	genome.wustl.edu	37	chr7	29606312	29606312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggcaggctttcctggtGacccccacgaggacaagcag	10	5	14	12	1	0	1	0	1	0	0	1	4	1	3	3	5	1	3	3	5	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:29606312G>A	ENST00000319694.2	+	2	1079	c.367G>A	c.(367-369)Gac>Aac	p.D123N		NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	123					multicellular organismal development (GO:0007275)					endometrium(1)|lung(1)|skin(1)	3						CTTTCCTGGTGACCCCCACGA	0.647																																																	0													6	7	7					7																	29606312		2170	4249	6419	SO:0001583	missense	0			BC029131	CCDS5421.1	7p15.1	2006-08-21			ENSG00000176532	ENSG00000176532			22310	protein-coding gene	gene with protein product						12477932	Standard	NM_175887		Approved		uc003tac.1	Q8IV56	OTTHUMG00000128555	ENST00000319694.2:c.367G>A	7.37:g.29606312G>A	ENSP00000317836:p.Asp123Asn			Missense_Mutation	SNP	NULL	p.D123N	ENST00000319694.2	37	c.367	CCDS5421.1	7	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714749	0.48622	.	.	ENSG00000176532	ENST00000319694	T	0.51325	0.71	5.43	4.54	0.55810	.	0.456035	0.21208	N	0.078344	T	0.40546	0.1121	L	0.57536	1.79	0.21386	N	0.999707	B	0.19073	0.033	B	0.22601	0.04	T	0.32613	-0.9900	10	0.09084	T	0.74	-18.6584	10.4246	0.44369	0.0915:0.0:0.9085:0.0	.	123	Q8IV56	PRR15_HUMAN	N	123	ENSP00000317836:D123N	ENSP00000317836:D123N	D	+	1	0	PRR15	29572837	0.831000	0.29352	0.037000	0.18230	0.156000	0.22039	2.380000	0.44327	1.278000	0.44430	0.491000	0.48974	GAC	PRR15	-	NULL	ENSG00000176532		0.647	PRR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR15	HGNC	protein_coding	OTTHUMT00000250402.2	-	0	72	0	G	NM_175887		29606312	1	tier1	-	no_errors	ENST00000319694	ensembl	human	known	74_37	missense	15.22	78	14	SNP	0.364	A	A	29606312	G	A	29606312	3	1	84	1	0	0	0	0	1	0	0	0	12629	1290	45	3	369	3	PRR15	7	29606312	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7822127	29606312	129532351	120	22315											
ELMO1	9844	genome.wustl.edu	37	chr7	37251031	37251031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctcgcgtgtacatggacTtgcgtttctccatgctgcca	7	13	9	12	3	2	0	0	0	2	0	4	1	2	1	2	1	4	3	2	1	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:37251031T>C	ENST00000310758.4	-	13	1693	c.1046A>G	c.(1045-1047)aAg>aGg	p.K349R	ELMO1_ENST00000442504.1_Missense_Mutation_p.K349R|ELMO1_ENST00000448602.1_Missense_Mutation_p.K349R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	349	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GTACATGGACTTGCGTTTCTC	0.493																																																	0													185	132	150					7																	37251031		2203	4300	6503	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1046A>G	7.37:g.37251031T>C	ENSP00000312185:p.Lys349Arg		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.K349R	ENST00000310758.4	37	c.1046	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.57|10.57	1.387418|1.387418	0.25031|0.25031	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212|ENST00000433246	T;T;T;T|.	0.32753|.	2.42;2.42;2.42;1.44|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Engulfment/cell motility, ELMO (2);|.	0.054466|.	0.64402|.	D|.	0.000001|.	T|T	0.52025|0.52025	0.1709|0.1709	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B|.	0.27264|.	0.173|.	B|.	0.32533|.	0.147|.	T|T	0.48896|0.48896	-0.8994|-0.8994	10|5	0.02654|.	T|.	1|.	.|.	15.2288|15.2288	0.73372|0.73372	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	349|.	Q92556|.	ELMO1_HUMAN|.	R|G	349;253;349;349;90|129	ENSP00000312185:K349R;ENSP00000406952:K349R;ENSP00000394458:K349R;ENSP00000395933:K90R|.	ENSP00000312185:K349R|.	K|S	-|-	2|1	0|0	ELMO1|ELMO1	37217556|37217556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	7.997000|7.997000	0.88414|0.88414	2.142000|2.142000	0.66516|0.66516	0.402000|0.402000	0.26972|0.26972	AAG|AGT	ELMO1	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000155849		0.493	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	101	0	T	NM_130442		37251031	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	18.98	111	26	SNP	1.000	C	C	37251031	T	C	37251031	3	2	84	1	0	0	0	0	1	0	0	0	5081	1609	56	4	1177	4	ELMO1	7	37251031	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	7644719	37251031	121887632	121	22316											
BAZ1B	9031	genome.wustl.edu	37	chr7	72892291	72892291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagacgagctgttttGgagataacacaggacagggc	14	6	15	6	1	0	3	0	0	0	3	0	8	0	4	0	3	2	2	0	3	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:72892291G>T	ENST00000339594.4	-	7	1838	c.1500C>A	c.(1498-1500)tcC>tcA	p.S500S	BAZ1B_ENST00000404251.1_Silent_p.S500S	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	500	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCTGTTTTGGAGATAACAC	0.453																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0													105	106	106					7																	72892291		2203	4300	6503	SO:0001819	synonymous_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"Zinc fingers, PHD-type"	961	protein-coding gene	gene with protein product	"Williams-Beuren syndrome chromosome region 9", "Williams-Beuren syndrome chromosome region 10", "transcription factor WSTF"	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1500C>A	7.37:g.72892291G>T			B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S500	ENST00000339594.4	37	c.1500	CCDS5549.1	7																																																																																			BAZ1B	-	superfamily_ARM-type_fold	ENSG00000009954		0.453	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4		0	23	0	G	NM_032408		72892291	-1			no_errors	ENST00000339594	ensembl	human	known	74_37	silent	10.71	25	3	SNP	1.000	T	T	72892291	G	T	72892291	2	4	84	1	0	0	0	0	0	0	0	1	1331	1335	47	3		3	BAZ1B	7	72892291	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	35641260	72892291	86246372	122	22317											
PTPN12	5782	genome.wustl.edu	37	chr7	77230012	77230012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtatcagtttcattatgTgaactggccagaccatgatg	10	13	10	8	0	2	3	2	2	0	1	2	3	2	3	2	1	1	3	2	1	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:77230012T>C	ENST00000248594.6	+	8	856	c.584T>C	c.(583-585)gTg>gCg	p.V195A	PTPN12_ENST00000415482.2_Missense_Mutation_p.V76A|PTPN12_ENST00000435495.2_Missense_Mutation_p.V65A	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	195	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTTCATTATGTGAACTGGCCA	0.338																																																	0													109	92	98					7																	77230012		2203	4299	6502	SO:0001583	missense	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.584T>C	7.37:g.77230012T>C	ENSP00000248594:p.Val195Ala		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.V195A	ENST00000248594.6	37	c.584	CCDS5592.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.0|24.0	4.484423|4.484423	0.84854|0.84854	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000418110|ENST00000522115	T;D;D;T|.	0.82803|.	2.78;-1.65;-1.65;2.57|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (4);|.	0.122893|.	0.53938|.	D|.	0.000043|.	T|.	0.72669|.	0.3489|.	M|M	0.66439|0.66439	2.03|2.03	0.44330|0.44330	D|D	0.997216|0.997216	D|.	0.67145|.	0.996|.	D|.	0.67382|.	0.951|.	T|.	0.72316|.	-0.4330|.	10|.	0.21540|.	T|.	0.41|.	.|.	15.6184|15.6184	0.76787|0.76787	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	195|.	Q05209|.	PTN12_HUMAN|.	A|R	195;76;76;65;76|134	ENSP00000248594:V195A;ENSP00000392429:V76A;ENSP00000397991:V65A;ENSP00000392526:V76A|.	ENSP00000248594:V195A|.	V|X	+|+	2|1	0|0	PTPN12|PTPN12	77067948|77067948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.243000|6.243000	0.72384|0.72384	2.090000|2.090000	0.63153|0.63153	0.455000|0.455000	0.32223|0.32223	GTG|TGA	PTPN12	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000127947		0.338	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3		0	26	0	T			77230012	1			no_errors	ENST00000248594	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C	C	77230012	T	C	77230012	3	2	84	1	0	0	0	0	1	0	0	0	12824	1696	59	4	614	4	PTPN12	7	77230012	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	4337721	77230012	81908651	123	22318											
STEAP4	79689	genome.wustl.edu	37	chr7	87913376	87913376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgccagacttcttggctGcttctgaatagctcaagact	9	13	9	10	0	3	4	1	2	2	2	3	4	3	4	1	1	3	3	1	1	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:87913376G>A	ENST00000380079.4	-	2	310	c.209C>T	c.(208-210)gCa>gTa	p.A70V	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.A70V|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.A70V|AC003991.3_ENST00000447758.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	70					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTTCTTGGCTGCTTCTGAATA	0.423																																																	0													129	121	123					7																	87913376		1856	4089	5945	SO:0001583	missense	0			AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"tumor necrosis factor, alpha-induced protein 9"	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.209C>T	7.37:g.87913376G>A	ENSP00000369419:p.Ala70Val		Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.A70V	ENST00000380079.4	37	c.209	CCDS43611.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257843	0.80246	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.56103	0.48;0.48;0.48	5.91	5.91	0.95273	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.76938	2.355	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.989;0.996;0.996	T	0.76884	-0.2794	10	0.87932	D	0	-10.6822	20.3011	0.98612	0.0:0.0:1.0:0.0	.	70;70;70	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	V	70	ENSP00000369419:A70V;ENSP00000305545:A70V;ENSP00000394399:A70V	ENSP00000305545:A70V	A	-	2	0	STEAP4	87751312	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.540000	0.73861	2.804000	0.96469	0.650000	0.86243	GCA	STEAP4	-	NULL	ENSG00000127954		0.423	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP4	HGNC	protein_coding	OTTHUMT00000332712.4	-	0	42	0	G	NM_024636		87913376	-1	tier1	-	no_errors	ENST00000380079	ensembl	human	known	74_37	missense	41.18	30	21	SNP	1.000	A	A	87913376	G	A	87913376	3	1	84	1	0	0	0	0	1	0	0	0	15327	1319	46	3	1186	3	STEAP4	7	87913376	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	10683364	87913376	71225287	124	22319											
SAMD9L	219285	genome.wustl.edu	37	chr7	92763306	92763306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtacactcattttcaCagaggatttccagtgcagtc	9	14	7	11	0	3	1	2	0	1	1	6	2	4	2	1	1	2	2	1	1	1	4	rs377186697		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:92763306C>T	ENST00000318238.4	-	5	3195	c.1979G>A	c.(1978-1980)tGt>tAt	p.C660Y	SAMD9L_ENST00000411955.1_Missense_Mutation_p.C660Y|SAMD9L_ENST00000437805.1_Missense_Mutation_p.C660Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	660					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCATTTTCACAGAGGATTTC	0.408																																																	0								C	TYR/CYS	1,4405	2.1+/-5.4	0,1,2202	75	75	75		1979	4	1	7		75	0,8598		0,0,4299	no	missense	SAMD9L	NM_152703.2	194	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	660/1585	92763306	1,13003	2203	4299	6502	SO:0001583	missense	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1979G>A	7.37:g.92763306C>T	ENSP00000326247:p.Cys660Tyr		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.C660Y	ENST00000318238.4	37	c.1979	CCDS34681.1	7	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861330	0.51482	2.27E-4	0.0	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.25749	1.78;1.78;1.78	4.86	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.49115	0.1538	M	0.69823	2.125	0.43913	D	0.996553	D	0.89917	1.0	D	0.70935	0.971	T	0.55205	-0.8177	10	0.87932	D	0	-8.423	14.717	0.69277	0.0:0.854:0.146:0.0	.	660	Q8IVG5	SAM9L_HUMAN	Y	660	ENSP00000326247:C660Y;ENSP00000405760:C660Y;ENSP00000408796:C660Y	ENSP00000326247:C660Y	C	-	2	0	SAMD9L	92601242	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	3.788000	0.55446	1.229000	0.43630	0.467000	0.42956	TGT	SAMD9L	-	NULL	ENSG00000177409		0.408	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	26	0	C	NM_152703		92763306	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	missense	23.08	38	12	SNP	1.000	T	T	92763306	C	T	92763306	3	4	84	1	0	0	0	0	1	0	0	0	13872	478	17	3	2779	3	SAMD9L	7	92763306	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	4849930	92763306	66375357	125	22320											
MCM7	4176	genome.wustl.edu	37	chr7	99697343	99697343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgtcgtccaggtccacatAcagagccacctgttcccgat	9	9	8	15	3	0	1	0	0	0	1	4	2	3	1	5	1	3	1	5	1	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:99697343A>G	ENST00000303887.5	-	3	790	c.145T>C	c.(145-147)Tat>Cat	p.Y49H	MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000422582.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.Y49H|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000421755.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	49					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGTCCACATACAGAGCCACC	0.542																																																	0													96	88	91					7																	99697343		2203	4300	6503	SO:0001583	missense	0				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 104"	600592	"minichromosome maintenance deficient (S. cerevisiae) 7", "MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.145T>C	7.37:g.99697343A>G	ENSP00000307288:p.Tyr49His		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4	p.Y49H	ENST00000303887.5	37	c.145	CCDS5683.1	7	.	.	.	.	.	.	.	.	.	.	A	7.065	0.567168	0.13560	.	.	ENSG00000166508	ENST00000343023;ENST00000303887	T;T	0.12255	2.7;2.7	4.5	3.32	0.38043	Nucleic acid-binding, OB-fold-like (1);	0.141249	0.49305	D	0.000144	T	0.10852	0.0265	L	0.42632	1.34	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13019	-1.0525	10	0.16896	T	0.51	3.6473	9.328	0.38005	0.8186:0.1814:0.0:0.0	.	49	P33993	MCM7_HUMAN	H	49	ENSP00000344006:Y49H;ENSP00000307288:Y49H	ENSP00000307288:Y49H	Y	-	1	0	MCM7	99535279	0.998000	0.40836	0.306000	0.25113	0.293000	0.27360	2.977000	0.49297	0.723000	0.32274	0.455000	0.32223	TAT	MCM7	-	superfamily_NA-bd_OB-fold	ENSG00000166508		0.542	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM7	HGNC	protein_coding	OTTHUMT00000336534.3	-	0	68	0	A			99697343	-1	tier1	-	no_errors	ENST00000303887	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.742	G	G	99697343	A	G	99697343	3	3	84	1	0	0	0	0	1	0	0	0	9430	391	14	4	2066	4	MCM7	7	99697343	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	6934037	99697343	59441320	126	22321											
RELN	5649	genome.wustl.edu	37	chr7	103191675	103191675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgccaggtcgccccGaagtcccttgaaaattccag	11	7	11	12	2	0	2	0	1	0	1	3	3	2	2	5	2	1	0	5	2	4	2	rs79161241	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:103191675G>T	ENST00000428762.1	-	41	6300	c.6141C>A	c.(6139-6141)ttC>ttA	p.F2047L	RELN_ENST00000424685.2_Missense_Mutation_p.F2047L|RELN_ENST00000343529.5_Missense_Mutation_p.F2047L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2047					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGTCGCCCCGAAGTCCCTTG	0.532																																					NSCLC(146;835 1944 15585 22231 52158)												0													67	55	59					7																	103191675		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6141C>A	7.37:g.103191675G>T	ENSP00000392423:p.Phe2047Leu		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.F2047L	ENST00000428762.1	37	c.6141	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	9.019	0.984464	0.18889	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21191	2.02;2.02;2.02	5.96	-11.9	0.00025	Neuraminidase (1);	0.098697	0.64402	D	0.000001	T	0.16342	0.0393	L	0.46741	1.465	0.26567	N	0.973629	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.36866	-0.9730	10	0.34782	T	0.22	.	22.3012	0.99969	0.2353:0.0769:0.6878:0.0	.	2047;2047	P78509-2;P78509	.;RELN_HUMAN	L	2047	ENSP00000392423:F2047L;ENSP00000345694:F2047L;ENSP00000388446:F2047L	ENSP00000345694:F2047L	F	-	3	2	RELN	102978911	0.037000	0.19845	0.013000	0.15412	0.970000	0.65996	-0.583000	0.05807	-3.877000	0.00096	-0.827000	0.03088	TTC	RELN	-	pfam_BNR_rpt,superfamily_Sialidases	ENSG00000189056		0.532	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1		0	38	0	G	NM_005045		103191675	-1			no_errors	ENST00000424685	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.002	T	T	103191675	G	T	103191675	3	4	84	1	0	0	0	0	1	0	0	0	13265	1049	37	2	4341	2	RELN	7	103191675	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3494332	103191675	55946988	127	22322											
HBP1	26959	genome.wustl.edu	37	chr7	106827032	106827032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacacgactgtgctttcAtaagggaagcaataaggaat	15	8	11	7	1	1	0	1	0	0	0	1	3	1	2	0	3	2	3	0	3	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:106827032A>T	ENST00000222574.4	+	6	857	c.671A>T	c.(670-672)cAt>cTt	p.H224L	HBP1_ENST00000485846.1_Missense_Mutation_p.H224L|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000468410.1_Missense_Mutation_p.H224L	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	224	AXH. {ECO:0000255|PROSITE- ProRule:PRU00496}.				cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CTGTGCTTTCATAAGGGAAGC	0.398																																																	0													142	137	139					7																	106827032		2203	4300	6503	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.671A>T	7.37:g.106827032A>T	ENSP00000222574:p.His224Leu		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.H224L	ENST00000222574.4	37	c.671	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	A	28.1	4.889353	0.91889	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99070	-5.39;-5.39;-5.39	5.95	5.95	0.96441	Ataxin, AXH domain (1);Ataxin-1/HBP1 module (AXH) (3);	0.000000	0.85682	D	0.000000	D	0.98595	0.9530	M	0.63428	1.95	0.80722	D	1	P;P;P	0.49559	0.827;0.908;0.925	P;P;P	0.50617	0.448;0.514;0.646	D	0.99640	1.0988	10	0.87932	D	0	-10.1551	16.4323	0.83853	1.0:0.0:0.0:0.0	.	234;224;224	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	L	224;224;224;216	ENSP00000420500:H224L;ENSP00000222574:H224L;ENSP00000418738:H224L	ENSP00000222574:H224L	H	+	2	0	HBP1	106614268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.272000	0.89885	2.281000	0.76405	0.528000	0.53228	CAT	HBP1	-	pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	ENSG00000105856		0.398	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0	83	0	A	NM_012257		106827032	1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	37.63	58	35	SNP	1.000	T	T	106827032	A	T	106827032	3	4	84	1	0	0	0	0	1	0	0	0	7012	217	8	5	689	5	HBP1	7	106827032	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	3635357	106827032	52311631	128	22323											
RNF133	168433	genome.wustl.edu	37	chr7	122338319	122338319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccatctccggttctgAatccttgctaaacaaagtct	9	12	7	13	2	3	1	0	1	3	0	5	1	4	1	3	1	3	3	3	1	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:122338319A>G	ENST00000340112.2	-	1	891	c.654T>C	c.(652-654)atT>atC	p.I218I	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	218					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TCCGGTTCTGAATCCTTGCTA	0.378																																					Colon(198;1778 2057 7449 19869 45985)												0													105	100	102					7																	122338319		2203	4300	6503	SO:0001819	synonymous_variant	0			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"RING-type (C3HC4) zinc fingers"	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.654T>C	7.37:g.122338319A>G			A4D0W2|Q8N7G7	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I218	ENST00000340112.2	37	c.654	CCDS5784.1	7																																																																																			RNF133	-	NULL	ENSG00000188050		0.378	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	-	0	56	0	A	NM_139175		122338319	-1	tier1	-	no_errors	ENST00000340112	ensembl	human	known	74_37	silent	65.52	20	38	SNP	0.842	G	G	122338319	A	G	122338319	2	3	84	1	0	0	0	0	0	0	0	1	13484	242	9	4		4	RNF133	7	122338319	Silent	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	15511287	122338319	36800344	129	22324											
DENND2A	27147	genome.wustl.edu	37	chr7	140269504	140269504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgtttctttcctctcCggacctcataaatggcgttg	6	14	7	14	3	4	0	2	0	2	0	6	1	5	1	4	2	0	2	4	2	2	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:140269504C>T	ENST00000275884.6	-	6	1898	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	DENND2A_ENST00000537639.1_Missense_Mutation_p.R494Q|DENND2A_ENST00000496613.1_Missense_Mutation_p.R494Q|DENND2A_ENST00000492720.1_Missense_Mutation_p.R494Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	494					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTTCCTCTCCGGACCTCATA	0.567																																																	0													137	138	137					7																	140269504		1950	4161	6111	SO:0001583	missense	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1481G>A	7.37:g.140269504C>T	ENSP00000275884:p.Arg494Gln		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R494Q	ENST00000275884.6	37	c.1481	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677300	0.88445	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.12672	3.37;3.37;3.37;2.66	4.74	4.74	0.60224	.	0.081588	0.50627	N	0.000106	T	0.32285	0.0824	L	0.46157	1.445	0.54753	D	0.999986	D;P	0.89917	1.0;0.906	D;B	0.79108	0.992;0.259	T	0.05632	-1.0873	10	0.72032	D	0.01	-19.0906	17.7358	0.88392	0.0:1.0:0.0:0.0	.	494;494	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	Q	494	ENSP00000275884:R494Q;ENSP00000442245:R494Q;ENSP00000419654:R494Q;ENSP00000419464:R494Q	ENSP00000275884:R494Q	R	-	2	0	DENND2A	139915973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.424000	0.66464	2.184000	0.69523	0.462000	0.41574	CGG	DENND2A	-	NULL	ENSG00000146966		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	-	0	56	0	C	NM_015689		140269504	-1	tier1	-	no_errors	ENST00000275884	ensembl	human	known	74_37	missense	29.27	58	24	SNP	1.000	T	T	140269504	C	T	140269504	3	4	84	1	0	0	0	0	1	0	0	0	4443	652	23	1	1604	1	DENND2A	7	140269504	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	17931185	140269504	18869159	130	22325											
TRYX3	136541	genome.wustl.edu	37	chr7	141955419	141955419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggactccagcgcagggcaAgtagtcagatttcaaataga	14	7	11	9	1	2	2	2	0	0	2	3	3	3	3	1	2	1	3	1	2	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:141955419A>T	ENST00000552471.1	-	2	434	c.115T>A	c.(115-117)Ttg>Atg	p.L39M	PRSS58_ENST00000547058.2_Missense_Mutation_p.L39M			Q8IYP2	PRS58_HUMAN	protease, serine, 58	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCGCAGGGCAAGTAGTCAGAT	0.473																																																	0													84	81	82					7																	141955419		2203	4300	6503	SO:0001583	missense	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"Serine peptidases / Serine peptidases"	39125	protein-coding gene	gene with protein product	"trypsin X3"						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.115T>A	7.37:g.141955419A>T	ENSP00000446916:p.Leu39Met		B3KVJ6|D3DXD2	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L39M	ENST00000552471.1	37	c.115	CCDS5871.1	7	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723499	0.68959	.	.	ENSG00000258223	ENST00000547058;ENST00000552471	D;D	0.82167	-1.58;-1.58	5.0	-4.48	0.03515	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89093	0.6617	M	0.82923	2.615	0.24003	N	0.996208	D	0.71674	0.998	D	0.68483	0.958	D	0.83531	0.0091	9	0.72032	D	0.01	.	11.2654	0.49108	0.1772:0.138:0.6847:0.0	.	39	Q8IYP2	PRS58_HUMAN	M	39	ENSP00000447588:L39M;ENSP00000446916:L39M	ENSP00000307206:L39M	L	-	1	2	PRSS58	141601896	0.962000	0.33011	0.137000	0.22149	0.399000	0.30720	-0.091000	0.11146	-0.927000	0.03766	0.533000	0.62120	TTG	PRSS58	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000258223		0.473	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS58	HGNC	protein_coding	OTTHUMT00000351328.2		0	58	0	A	NM_001001317		141955419	-1			no_errors	ENST00000547058	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.510	T	T	141955419	A	T	141955419	3	4	84	1	0	0	0	0	1	0	0	0	16652	69	3	5	626	5	TRYX3	7	141955419	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	1685915	141955419	17183244	131	22326											
FAM131B	9715	genome.wustl.edu	37	chr7	143056068	143056068	+	Frame_Shift_Del	DEL	C	C	-																															atgtgggccacccggccttgCcccatggctgtgggctttgt																								rs535469846	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:143056068delC	ENST00000409408.1	-	4	1942	c.234delG	c.(232-234)gggfs	p.G78fs	FAM131B_ENST00000409222.3_Frame_Shift_Del_p.G78fs|FAM131B_ENST00000409346.1_Frame_Shift_Del_p.G78fs|FAM131B_ENST00000409578.1_Frame_Shift_Del_p.G94fs|FAM131B_ENST00000443739.2_Frame_Shift_Del_p.G106fs			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	78										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCCGGCCTTGCCCCATGGCTG	0.572																																																	0													81	61	68					7																	143056068		2203	4300	6503	SO:0001589	frameshift_variant	0			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.234delG	7.37:g.143056068delC	ENSP00000387017:p.Gly78fs		A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Frame_Shift_Del	DEL	NULL	p.Q107fs	ENST00000409408.1	37	c.318	CCDS5882.1	7																																																																																			FAM131B	-	NULL	ENSG00000159784		0.572	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	HGNC	protein_coding	OTTHUMT00000328057.1		0	48	0	C	NM_014690		143056068	-1	tier1		no_errors	ENST00000443739	ensembl	human	known	74_37	frame_shift_del	27.27	48	18	DEL	0.683	-	-	143056068	C	-	143056068	7	5	84	1	0	1	0	1	0	0	0	0	5459	726	26	0	776	0	FAM131B	7	143056068	Frame_Shift_Del	DEL	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1100649	143056068	16082595	132	22327											
EPHA1	2041	genome.wustl.edu	37	chr7	143095515	143095515	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggttctttcttcaccaGtctcagagacaggcctgaca	8	11	8	14	1	4	2	2	1	3	1	6	3	4	2	3	2	0	1	3	2	0	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:143095515G>A	ENST00000275815.3	-	7	1449	c.1363C>T	c.(1363-1365)Ctg>Ttg	p.L455L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	455	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCTTCACCAGTCTCAGAGAC	0.542																																																	0													52	55	54					7																	143095515		2203	4300	6503	SO:0001819	synonymous_variant	0			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3385	protein-coding gene	gene with protein product		179610	"EphA1"	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1363C>T	7.37:g.143095515G>A			A1L3V3|B5A966|B5A967|Q15405	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.L455	ENST00000275815.3	37	c.1363	CCDS5884.1	7																																																																																			EPHA1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146904		0.542	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA1	HGNC	protein_coding	OTTHUMT00000342154.1	-	0	52	0	G			143095515	-1	tier1	-	no_errors	ENST00000275815	ensembl	human	known	74_37	silent	58.82	28	40	SNP	1.000	A	A	143095515	G	A	143095515	2	1	84	1	0	0	0	0	0	0	0	1	5181	1020	36	3		3	EPHA1	7	143095515	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	39447	143095515	16043148	133	22328											
OR2A7	401427	genome.wustl.edu	37	chr7	143955883	143955883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggattgagcatgggattaAagaggctgtgaaacagcagg	13	7	17	4	0	0	3	0	2	0	1	0	5	0	5	0	5	3	3	0	5	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:143955883A>C	ENST00000493325.1	-	1	932	c.839T>G	c.(838-840)tTt>tGt	p.F280C	OR2A1-AS1_ENST00000498397.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CATGGGATTAAAGAGGCTGTG	0.428																																																	0													47	52	50					7																	143955883		2202	4279	6481	SO:0001583	missense	0				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"GPCR / Class A : Olfactory receptors"	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.839T>G	7.37:g.143955883A>C	ENSP00000420502:p.Phe280Cys		B2RN57|Q6IFP4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.F280C	ENST00000493325.1	37	c.839	CCDS55177.1	7	.	.	.	.	.	.	.	.	.	.	a	11.54	1.670150	0.29693	.	.	ENSG00000243896	ENST00000493325	T	0.00169	8.63	3.17	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	M	0.63843	1.955	0.30488	N	0.771627	D	0.89917	1.0	D	0.77004	0.989	T	0.52215	-0.8605	9	0.87932	D	0	.	10.0247	0.42063	1.0:0.0:0.0:0.0	.	280	Q96R45	OR2A7_HUMAN	C	280	ENSP00000420502:F280C	ENSP00000420502:F280C	F	-	2	0	OR2A7	143586816	0.752000	0.28338	0.996000	0.52242	0.126000	0.20510	6.524000	0.73791	1.676000	0.50930	0.416000	0.27883	TTT	OR2A7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	ENSG00000243896		0.428	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	HGNC	protein_coding	OTTHUMT00000349979.1	-	0	50	0	A			143955883	-1	tier1	-	no_errors	ENST00000493325	ensembl	human	known	74_37	missense	25.37	50	17	SNP	0.851	C	C	143955883	A	C	143955883	3	2	84	1	0	0	0	0	1	0	0	0	11021	14	1	4	96	4	OR2A7	7	143955883	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	860368	143955883	15182780	134	22329											
PAXIP1	22976	genome.wustl.edu	37	chr7	154760285	154760285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgctgctgctgctgctgCtggtgcatgcgctggagctg	3	12	15	11	1	1	0	0	0	1	0	1	1	1	1	0	2	9	9	0	2	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr7:154760285C>G	ENST00000404141.1	-	7	1780	c.1626G>C	c.(1624-1626)caG>caC	p.Q542H	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.Q542H			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	542	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.Q508H(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		gctgctgctgctggtgcatgc	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)											13	13	13					7																	154760285		1934	3626	5560	SO:0001583	missense	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1626G>C	7.37:g.154760285C>G	ENSP00000384048:p.Gln542His		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q542H	ENST00000404141.1	37	c.1626	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	C	11.13	1.548436	0.27652	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	T;T	0.48201	0.82;0.82	4.96	-3.3	0.05003	.	0.298320	0.23000	N	0.053095	T	0.26593	0.0650	N	0.19112	0.55	0.25352	N	0.988853	B;B;B;B	0.14012	0.001;0.009;0.002;0.001	B;B;B;B	0.12156	0.003;0.007;0.007;0.003	T	0.11991	-1.0565	10	0.45353	T	0.12	-3.9012	9.2332	0.37450	0.0:0.4209:0.4486:0.1305	.	495;451;508;542	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	H	542;542;495	ENSP00000384048:Q542H;ENSP00000380376:Q542H	ENSP00000319149:Q495H	Q	-	3	2	PAXIP1	154391218	0.712000	0.27916	0.413000	0.26509	0.911000	0.54048	0.051000	0.14141	-0.530000	0.06349	-0.357000	0.07601	CAG	PAXIP1	-	NULL	ENSG00000157212		0.627	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1		0	35	0	C	NM_007349		154760285	-1			no_errors	ENST00000397192	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.930	G	G	154760285	C	G	154760285	3	3	84	1	0	0	0	0	1	0	0	0	11526	796	28	5	1643	5	PAXIP1	7	154760285	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	10804402	154760285	4378378	135	22330											
SGCZ	137868	genome.wustl.edu	37	chr8	14095139	14095139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaactgccccatgtgatttCttgcattcactgtgacattc	8	16	6	11	0	2	2	1	2	1	0	3	2	2	2	2	0	3	1	2	0	1	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:14095139C>A	ENST00000382080.1	-	4	1101	c.386G>T	c.(385-387)aGa>aTa	p.R129I	SGCZ_ENST00000421524.2_Missense_Mutation_p.R82I	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	116					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)		p.R129I(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CATGTGATTTCTTGCATTCAC	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											350	336	340					8																	14095139		2203	4300	6503	SO:0001583	missense	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.386G>T	8.37:g.14095139C>A	ENSP00000371512:p.Arg129Ile		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.R129I	ENST00000382080.1	37	c.386	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	c	19.65	3.867254	0.72065	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.95724	-3.79;-3.79	5.39	5.39	0.77823	.	0.089576	0.64402	D	0.000001	D	0.96150	0.8745	M	0.83774	2.66	0.80722	D	1	P;P	0.41748	0.761;0.717	B;B	0.44278	0.445;0.239	D	0.95505	0.8581	10	0.36615	T	0.2	.	18.5837	0.91181	0.0:1.0:0.0:0.0	.	82;129	Q08AT0;Q96LD1-2	.;.	I	129;82	ENSP00000371512:R129I;ENSP00000405224:R82I	ENSP00000371512:R129I	R	-	2	0	SGCZ	14139510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.935000	0.75886	2.708000	0.92522	0.585000	0.79938	AGA	SGCZ	-	pfam_Sarcoglycan	ENSG00000185053		0.388	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	-	0	56	0	C	NM_139167		14095139	-1	tier1	-	no_errors	ENST00000382080	ensembl	human	known	74_37	missense	27.27	56	21	SNP	1.000	A	A	14095139	C	A	14095139	3	1	84	1	0	0	0	0	1	0	0	0	14249	913	32	3	572	3	SGCZ	8	14095139	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		14095139	132268883	136	22331											
IDO1	3620	genome.wustl.edu	37	chr8	39785408	39785408	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaccagctcacaggaacTtcctgtgctcattagagtca	10	10	8	13	0	3	1	3	0	0	1	4	2	4	2	3	1	4	2	3	1	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:39785408T>G	ENST00000518237.1	+	10	1555	c.916T>G	c.(916-918)Ttc>Gtc	p.F306V	IDO1_ENST00000522495.1_Missense_Mutation_p.F306V|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	306					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	TCACAGGAACTTCCTGTGCTC	0.483																																																	0													44	42	43					8																	39785408		1963	4170	6133	SO:0001583	missense	0			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"indoleamine-pyrrole 2,3 dioxygenase"	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.916T>G	8.37:g.39785408T>G	ENSP00000430950:p.Phe306Val		Q540B4	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.F306V	ENST00000518237.1	37	c.916	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336499	0.60963	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.58940	0.3;0.3	5.37	5.37	0.77165	.	0.072612	0.56097	D	0.000036	T	0.81264	0.4786	H	0.94734	3.575	0.24003	N	0.996209	D	0.89917	1.0	D	0.97110	1.0	T	0.76963	-0.2764	9	.	.	.	-22.7821	11.6914	0.51519	0.0:0.0:0.0:1.0	.	306	P14902	I23O1_HUMAN	V	306	ENSP00000430505:F306V;ENSP00000430950:F306V	.	F	+	1	0	IDO1	39904565	0.996000	0.38824	0.054000	0.19295	0.038000	0.13279	2.885000	0.48570	2.254000	0.74563	0.460000	0.39030	TTC	IDO1	-	pfam_Indolamine_dOase	ENSG00000131203		0.483	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	HGNC	protein_coding	OTTHUMT00000376987.1	-	0	64	0	T	NM_002164		39785408	1	tier1	-	no_errors	ENST00000518237	ensembl	human	known	74_37	missense	22.83	71	21	SNP	0.256	G	G	39785408	T	G	39785408	3	3	84	1	0	0	0	0	1	0	0	0	7528	1609	56	4	954	4	IDO1	8	39785408	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	25690269	39785408	106578614	137	22332											
CYP7B1	9420	genome.wustl.edu	37	chr8	65537027	65537027	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatgaaccttaaggggtcTtttcgtaagttcaggaccac	10	13	9	9	1	3	1	2	1	1	0	4	2	3	2	2	3	1	2	2	3	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:65537027T>A	ENST00000310193.3	-	2	365	c.192A>T	c.(190-192)aaA>aaT	p.K64N		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	64					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTAAGGGGTCTTTTCGTAAGT	0.383																																																	0													139	136	137					8																	65537027		2203	4300	6503	SO:0001583	missense	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"Cytochrome P450s"	2652	protein-coding gene	gene with protein product		603711	"cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1", "spastic paraplegia 5A (autosomal recessive)"	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.192A>T	8.37:g.65537027T>A	ENSP00000310721:p.Lys64Asn		B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.K64N	ENST00000310193.3	37	c.192	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345159	0.41498	.	.	ENSG00000172817	ENST00000310193	T	0.68765	-0.35	5.63	-1.12	0.09808	.	0.211223	0.50627	D	0.000118	T	0.60779	0.2295	M	0.69823	2.125	0.33912	D	0.639802	B	0.27068	0.167	B	0.33690	0.168	T	0.60052	-0.7338	10	0.56958	D	0.05	-24.619	5.8037	0.18428	0.1222:0.3587:0.0:0.5191	.	64	O75881	CP7B1_HUMAN	N	64	ENSP00000310721:K64N	ENSP00000310721:K64N	K	-	3	2	CYP7B1	65699581	0.998000	0.40836	0.005000	0.12908	0.004000	0.04260	0.793000	0.26944	-0.105000	0.12132	0.482000	0.46254	AAA	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000172817		0.383	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	-	0	74	0	T			65537027	-1	tier1	-	no_errors	ENST00000310193	ensembl	human	known	74_37	missense	32.04	70	33	SNP	0.907	A	A	65537027	T	A	65537027	3	1	84	1	0	0	0	0	1	0	0	0	4206	1606	56	5	1348	5	CYP7B1	8	65537027	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	25751619	65537027	80826995	138	22333											
RALYL	138046	genome.wustl.edu	37	chr8	85799845	85799845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccccccccagaagctcAgaagaagcaattggaagaga	14	5	9	13	0	2	4	1	0	1	4	3	6	2	5	4	1	2	2	4	1	5	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:85799845A>G	ENST00000521268.1	+	8	1797	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	RALYL_ENST00000521376.1_Intron|RALYL_ENST00000517638.1_Missense_Mutation_p.Q244R|RALYL_ENST00000523850.1_Missense_Mutation_p.Q158R|RALYL_ENST00000518566.1_Missense_Mutation_p.Q220R|RALYL_ENST00000522455.1_Missense_Mutation_p.Q231R|RALYL_ENST00000521695.1_Missense_Mutation_p.Q231R	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	231							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCAGAAGCTCAGAAGAAGCAA	0.478																																																	0													98	94	95					8																	85799845		1884	4109	5993	SO:0001583	missense	0				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.692A>G	8.37:g.85799845A>G	ENSP00000430367:p.Gln231Arg		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.Q231R	ENST00000521268.1	37	c.692	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168138	0.57476	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.14391	2.89;2.89;2.89;2.9;2.89;2.51	5.34	5.34	0.76211	.	0.575016	0.17590	N	0.168817	T	0.26810	0.0656	L	0.51422	1.61	0.80722	D	1	B;D;B;B	0.56968	0.006;0.978;0.144;0.006	B;P;B;B	0.56788	0.003;0.806;0.087;0.006	T	0.00632	-1.1635	10	0.33141	T	0.24	-10.5285	15.609	0.76699	1.0:0.0:0.0:0.0	.	220;158;244;231	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	R	231;231;231;220;244;158	ENSP00000430394:Q231R;ENSP00000428667:Q231R;ENSP00000430367:Q231R;ENSP00000430065:Q220R;ENSP00000430128:Q244R;ENSP00000428807:Q158R	ENSP00000430128:Q244R	Q	+	2	0	RALYL	85962400	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.361000	0.73070	2.151000	0.67156	0.459000	0.35465	CAG	RALYL	-	pirsf_hnRNP_C_Raly	ENSG00000184672		0.478	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	-	0	43	0	A			85799845	1	tier1	-	no_errors	ENST00000521268	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	G	G	85799845	A	G	85799845	3	3	84	1	0	0	0	0	1	0	0	0	13065	188	7	4	761	4	RALYL	8	85799845	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	20262818	85799845	60564177	139	22334											
CNGB3	54714	genome.wustl.edu	37	chr8	87755746	87755746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgctgtggtttgctgaGactgattacttgggtgagag	6	14	15	6	0	0	3	0	3	0	2	0	5	0	3	1	2	3	3	1	2	1	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:87755746G>T	ENST00000320005.5	-	1	157	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	37					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGTTTGCTGAGACTGATTACT	0.408																																																	0													327	273	291					8																	87755746		2203	4300	6503	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.110C>A	8.37:g.87755746G>T	ENSP00000316605:p.Ser37Tyr		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S37Y	ENST00000320005.5	37	c.110	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	G	9.379	1.072432	0.20147	.	.	ENSG00000170289	ENST00000320005	T	0.31769	1.48	5.96	4.12	0.48240	.	0.885835	0.09375	N	0.810778	T	0.31513	0.0799	L	0.34521	1.04	0.09310	N	1	B	0.31790	0.34	B	0.37091	0.241	T	0.35126	-0.9801	10	0.54805	T	0.06	.	13.9796	0.64297	0.0:0.2891:0.7109:0.0	.	37	Q9NQW8	CNGB3_HUMAN	Y	37	ENSP00000316605:S37Y	ENSP00000316605:S37Y	S	-	2	0	CNGB3	87824862	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.717000	0.25851	0.799000	0.34018	-0.182000	0.12963	TCT	CNGB3	-	NULL	ENSG00000170289		0.408	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	73	0	G	NM_019098		87755746	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	missense	5.75	82	5	SNP	0.002	T	T	87755746	G	T	87755746	3	4	84	1	0	0	0	0	1	0	0	0	3608	942	33	3	2391	3	CNGB3	8	87755746	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1955901	87755746	58608276	140	22335											
NECAB1	64168	genome.wustl.edu	37	chr8	91804183	91804183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctcagctctgctctgcaCctgtccaagggcatgtcgat	7	10	11	13	1	3	0	1	0	2	0	5	2	4	0	2	1	4	5	2	1	1	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:91804183C>G	ENST00000417640.2	+	1	406	c.69C>G	c.(67-69)caC>caG	p.H23Q	TMEM64_ENST00000519519.1_5'Flank|NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	23						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CTGCTCTGCACCTGTCCAAGG	0.602																																																	0													40	49	46					8																	91804183		1975	3974	5949	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.69C>G	8.37:g.91804183C>G	ENSP00000387380:p.His23Gln		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.H23Q	ENST00000417640.2	37	c.69	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	C	4.887	0.164767	0.09287	.	.	ENSG00000123119	ENST00000417640	T	0.15718	2.4	4.52	1.59	0.23543	.	0.524289	0.20148	N	0.098231	T	0.05044	0.0135	N	0.02539	-0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	10	0.13470	T	0.59	-7.7382	5.2598	0.15567	0.198:0.172:0.63:0.0	.	23	Q8N987	NECA1_HUMAN	Q	23	ENSP00000387380:H23Q	ENSP00000387380:H23Q	H	+	3	2	NECAB1	91873359	0.997000	0.39634	0.994000	0.49952	0.974000	0.67602	0.969000	0.29370	0.490000	0.27771	-0.226000	0.12346	CAC	NECAB1	-	NULL	ENSG00000123119		0.602	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	-	0	44	0	C	NM_022351		91804183	1	tier1	-	no_errors	ENST00000417640	ensembl	human	known	74_37	missense	38.24	42	26	SNP	0.996	G	G	91804183	C	G	91804183	3	3	84	1	0	0	0	0	1	0	0	0	10343	506	18	5	71	5	NECAB1	8	91804183	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	4048437	91804183	54559839	141	22336											
GDF6	392255	genome.wustl.edu	37	chr8	97172823	97172823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaacccagctcggcggacGacgaggaggatgagatggaa	12	4	17	8	4	0	1	0	1	0	1	1	9	0	6	1	6	2	1	1	6	2	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:97172823G>A	ENST00000287020.5	-	1	197	c.98C>T	c.(97-99)tCg>tTg	p.S33L		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	33	Poly-Ser.				activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CTCGGCGGACGACGAGGAGGA	0.642																																																	0													50	58	55					8																	97172823		2203	4300	6503	SO:0001583	missense	0				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"segmentation syndrome 1"	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.98C>T	8.37:g.97172823G>A	ENSP00000287020:p.Ser33Leu		Q6PI58	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.S33L	ENST00000287020.5	37	c.98	CCDS34926.1	8	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481863	0.63849	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	D	0.82255	-1.59	4.25	4.25	0.50352	.	3.878570	0.01150	N	0.006384	T	0.72755	0.3500	N	0.14661	0.345	0.28664	N	0.905989	B	0.32731	0.382	B	0.21917	0.037	T	0.61362	-0.7078	10	0.25106	T	0.35	.	13.5368	0.61652	0.0:0.0:1.0:0.0	.	33	Q6KF10	GDF6_HUMAN	L	33	ENSP00000287020:S33L	ENSP00000287020:S33L	S	-	2	0	GDF6	97241999	0.476000	0.25901	0.589000	0.28718	0.834000	0.47266	4.208000	0.58486	1.893000	0.54813	0.514000	0.50259	TCG	GDF6	-	NULL	ENSG00000156466		0.642	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	-	0	110	0	G	NM_001001557		97172823	-1	tier1	-	no_errors	ENST00000287020	ensembl	human	known	74_37	missense	26.11	116	41	SNP	0.998	A	A	97172823	G	A	97172823	3	1	84	1	0	0	0	0	1	0	0	0	6343	1059	37	1	1277	1	GDF6	8	97172823	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	5368640	97172823	49191199	142	22337											
MTERFD1	51001	genome.wustl.edu	37	chr8	97270593	97270593	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcagaattaccttctagaAacagctcagaatcaaagctg	15	10	7	9	0	4	3	3	0	1	3	4	3	4	3	1	0	4	3	1	0	6	4	rs200509858		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:97270593A>C	ENST00000287025.3	-	2	424	c.326T>G	c.(325-327)tTt>tGt	p.F109C	MTERFD1_ENST00000522822.1_5'Flank|MTERFD1_ENST00000523821.1_Missense_Mutation_p.F109C|MTERFD1_ENST00000524341.1_5'Flank	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		109					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACCTTCTAGAAACAGCTCAGA	0.408																																																	0													43	41	42					8																	97270593		2203	4300	6503	SO:0001583	missense	0																														ENST00000287025.3:c.326T>G	8.37:g.97270593A>C	ENSP00000287025:p.Phe109Cys		B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.F109C	ENST00000287025.3	37	c.326	CCDS6270.1	8	.	.	.	.	.	.	.	.	.	.	A	10.09	1.253939	0.22965	.	.	ENSG00000156469	ENST00000523821;ENST00000287025	T	0.32272	1.46	5.81	4.0	0.46444	.	0.683043	0.14868	N	0.293696	T	0.19805	0.0476	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17410	-1.0370	10	0.38643	T	0.18	-6.2336	7.6322	0.28247	0.0895:0.165:0.7455:0.0	.	109;109	E5RIK9;Q96E29	.;MTER1_HUMAN	C	109	ENSP00000287025:F109C	ENSP00000287025:F109C	F	-	2	0	MTERFD1	97339769	0.001000	0.12720	0.013000	0.15412	0.880000	0.50808	1.059000	0.30517	0.768000	0.33290	-0.242000	0.12053	TTT	MTERFD1	-	NULL	ENSG00000156469		0.408	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD1	HGNC	protein_coding	OTTHUMT00000379876.1	-	0	33	0	A			97270593	-1	tier1	-	no_errors	ENST00000287025	ensembl	human	known	74_37	missense	35.71	36	20	SNP	0.003	C	C	97270593	A	C	97270593	3	2	84	1	0	0	0	0	1	0	0	0	9957	14	1	4	955	4	MTERFD1	8	97270593	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	97770	97270593	49093429	143	22338											
ZNF572	137209	genome.wustl.edu	37	chr8	125989785	125989785	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactttcagtcagagttcCaccctggtgattcaccaaag	13	10	7	11	0	3	2	3	1	0	1	4	2	4	2	3	1	1	1	3	1	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:125989785C>A	ENST00000319286.5	+	3	1429	c.1275C>A	c.(1273-1275)tcC>tcA	p.S425S		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GTCAGAGTTCCACCCTGGTGA	0.433										HNSCC(60;0.17)																																							0													78	78	78					8																	125989785		2203	4300	6503	SO:0001819	synonymous_variant	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"Zinc fingers, C2H2-type"	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.1275C>A	8.37:g.125989785C>A			A1L4F1|Q8N1Q0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S425	ENST00000319286.5	37	c.1275	CCDS6354.1	8																																																																																			ZNF572	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180938		0.433	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1	-	0	28	0	C	NM_152412		125989785	1	tier1	-	no_errors	ENST00000319286	ensembl	human	known	74_37	silent	21.05	30	8	SNP	0.822	A	A	125989785	C	A	125989785	2	1	84	1	0	0	0	0	0	0	0	1	18052	581	21	3		3	ZNF572	8	125989785	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	28719192	125989785	20374237	144	22339											
KCNQ3	3786	genome.wustl.edu	37	chr8	133198348	133198348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaatcttaccagtaacagaAgccagtctcccgagacagtc	13	7	8	13	1	2	2	0	0	2	2	4	3	2	2	3	0	3	2	3	0	4	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:133198348A>T	ENST00000388996.4	-	2	887	c.467T>A	c.(466-468)cTt>cAt	p.L156H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.L156H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L36H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	156					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CAGTAACAGAAGCCAGTCTCC	0.507																																																	0													109	95	100					8																	133198348		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.467T>A	8.37:g.133198348A>T	ENSP00000373648:p.Leu156His		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.L156H	ENST00000388996.4	37	c.467	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	A	22.8	4.331420	0.81690	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98296	-4.85;-4.85;-4.85	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.98267	0.9426	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99862	1.1084	10	0.87932	D	0	-15.7477	15.2013	0.73139	1.0:0.0:0.0:0.0	.	156;156	E7ET42;O43525	.;KCNQ3_HUMAN	H	156;36;156;145;35	ENSP00000373648:L156H;ENSP00000429799:L36H;ENSP00000428790:L156H	ENSP00000373648:L156H	L	-	2	0	KCNQ3	133267530	1.000000	0.71417	0.962000	0.40283	0.849000	0.48306	8.651000	0.91078	2.190000	0.69967	0.455000	0.32223	CTT	KCNQ3	-	NULL	ENSG00000184156		0.507	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	79	0	A	NM_004519		133198348	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	26.53	72	26	SNP	0.999	T	T	133198348	A	T	133198348	3	4	84	1	0	0	0	0	1	0	0	0	8111	72	3	5	2207	5	KCNQ3	8	133198348	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	7208563	133198348	13165674	145	22340											
TG	7038	genome.wustl.edu	37	chr8	133899062	133899062	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttggtgaatgttggccAgtttaacttgtctggagccc	7	16	11	7	0	1	1	0	1	1	0	1	2	1	2	2	3	2	2	2	3	2	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:133899062A>T	ENST00000220616.4	+	9	1485	c.1445A>T	c.(1444-1446)cAg>cTg	p.Q482L	TG_ENST00000377869.1_Missense_Mutation_p.Q482L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	482					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AATGTTGGCCAGTTTAACTTG	0.478																																																	0													78	82	81					8																	133899062		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1445A>T	8.37:g.133899062A>T	ENSP00000220616:p.Gln482Leu		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.Q482L	ENST00000220616.4	37	c.1445	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199999	0.38905	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.65364	-0.15;-0.15	5.67	1.52	0.23074	.	0.311546	0.27792	N	0.017830	T	0.51907	0.1702	M	0.65975	2.015	0.09310	N	1	P	0.38922	0.651	B	0.33042	0.157	T	0.51092	-0.8749	10	0.87932	D	0	.	6.2727	0.20963	0.6429:0.1273:0.2298:0.0	.	482	P01266	THYG_HUMAN	L	482	ENSP00000367100:Q482L;ENSP00000220616:Q482L	ENSP00000220616:Q482L	Q	+	2	0	TG	133968244	0.998000	0.40836	0.987000	0.45799	0.990000	0.78478	1.094000	0.30951	0.413000	0.25759	0.455000	0.32223	CAG	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	86	0	A	NM_003235		133899062	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	33.63	75	38	SNP	0.163	T	T	133899062	A	T	133899062	3	4	84	1	0	0	0	0	1	0	0	0	15860	188	7	5	1479	5	TG	8	133899062	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	700714	133899062	12464960	146	22341											
CPSF1	29894	genome.wustl.edu	37	chr8	145618985	145618985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcctgcatgggcagcaGcagcccgatgccgccgtcca	6	7	11	17	3	1	0	0	0	1	0	3	1	2	0	5	1	5	4	5	1	0	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr8:145618985G>A	ENST00000349769.3	-	36	4136	c.4042C>T	c.(4042-4044)Ctg>Ttg	p.L1348L	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1348					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ATGGGCAGCAGCAGCCCGATG	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)												0													22	28	26					8																	145618985		2185	4292	6477	SO:0001819	synonymous_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.4042C>T	8.37:g.145618985G>A			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.L1348	ENST00000349769.3	37	c.4042	CCDS34966.1	8																																																																																			CPSF1	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000071894		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	-	0	58	0	G	NM_013291		145618985	-1	tier1	-	no_errors	ENST00000349769	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	A	A	145618985	G	A	145618985	2	1	84	1	0	0	0	0	0	0	0	1	3831	962	34	3		3	CPSF1	8	145618985	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	11719923	145618985	745037	147	22342											
FREM1	158326	genome.wustl.edu	37	chr9	14848682	14848682	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtattccaggatacacgGggggcatttgtatctgctgt	7	13	12	9	1	1	0	0	0	1	0	2	1	2	1	2	4	2	4	2	4	3	5	rs373428758		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:14848682G>C	ENST00000380880.3	-	7	2025	c.1242C>G	c.(1240-1242)ccC>ccG	p.P414P	RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000422223.2_Silent_p.P414P|FREM1_ENST00000380881.4_Silent_p.P415P			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	414					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGATACACGGGGGGCATTTG	0.428																																																	0													132	119	123					9																	14848682		1907	4133	6040	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1242C>G	9.37:g.14848682G>C			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.P415	ENST00000380880.3	37	c.1245	CCDS47952.1	9																																																																																			FREM1	-	NULL	ENSG00000164946		0.428	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	-	0	80	0	G	NM_144966		14848682	-1	tier1	-	no_errors	ENST00000380881	ensembl	human	known	74_37	silent	42.03	40	29	SNP	0.004	C	C	14848682	G	C	14848682	2	2	84	1	0	0	0	0	0	0	0	1	6068	1219	43	5		5	FREM1	9	14848682	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09		14848682	126364749	148	22343											
CNTLN	54875	genome.wustl.edu	37	chr9	17457656	17457656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggatacaagttacatcActtagtccttcaaggagcat	13	10	7	11	1	2	0	2	0	0	0	3	2	3	2	2	2	3	2	2	2	5	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:17457656A>G	ENST00000380647.3	+	19	3333	c.3249A>G	c.(3247-3249)tcA>tcG	p.S1083S	CNTLN_ENST00000425824.1_Silent_p.S1083S|CNTLN_ENST00000262360.5_Silent_p.S1083S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1083					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGTTACATCACTTAGTCCTT	0.323																																																	0													74	72	72					9																	17457656		1821	4085	5906	SO:0001819	synonymous_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3249A>G	9.37:g.17457656A>G			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	superfamily_Prefoldin	p.S1083	ENST00000380647.3	37	c.3249	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.323	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0	151	0	A	NM_017738		17457656	1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	silent	40.74	80	55	SNP	0.938	G	G	17457656	A	G	17457656	2	3	84	1	0	0	0	0	0	0	0	1	3646	146	6	4		4	CNTLN	9	17457656	Silent	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2608974	17457656	123755775	149	22344											
TEK	7010	genome.wustl.edu	37	chr9	27197501	27197501	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcggtgctacttaacaacTtacatcccagggagcagtac	11	10	8	12	1	0	0	0	0	0	0	2	1	1	1	1	2	7	3	1	2	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:27197501T>G	ENST00000380036.4	+	12	2255	c.1813T>G	c.(1813-1815)Tta>Gta	p.L605V	TEK_ENST00000519097.1_Missense_Mutation_p.L458V|RNA5SP280_ENST00000411230.1_RNA|TEK_ENST00000406359.4_Missense_Mutation_p.L562V	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	605	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	ACTTAACAACTTACATCCCAG	0.463																																																	0													93	84	87					9																	27197501		2203	4300	6503	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1813T>G	9.37:g.27197501T>G	ENSP00000369375:p.Leu605Val		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L605V	ENST00000380036.4	37	c.1813	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997855	0.35226	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9	5.43	0.261	0.15592	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36444	N	0.002586	D	0.85026	0.5603	L	0.27053	0.805	0.25242	N	0.989741	B;B;D;B	0.69078	0.01;0.208;0.997;0.026	B;P;D;B	0.85130	0.026;0.536;0.997;0.022	T	0.77902	-0.2414	10	0.87932	D	0	.	10.2139	0.43158	0.0:0.3993:0.0:0.6007	.	458;638;562;605	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	V	458;605;562;415	ENSP00000430686:L458V;ENSP00000369375:L605V;ENSP00000383977:L562V;ENSP00000428337:L415V	ENSP00000369375:L605V	L	+	1	2	TEK	27187501	0.893000	0.30496	0.083000	0.20561	0.997000	0.91878	0.773000	0.26661	-0.185000	0.10550	0.533000	0.62120	TTA	TEK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120156		0.463	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0	47	0	T			27197501	1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	missense	33.33	34	17	SNP	0.334	G	G	27197501	T	G	27197501	3	3	84	1	0	0	0	0	1	0	0	0	15798	1606	56	4	1859	4	TEK	9	27197501	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	9739845	27197501	114015930	150	22345											
TEK	7010	genome.wustl.edu	37	chr9	27229191	27229191	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgctttatgagaagtttacTtatgcaggaattgactgttc	11	15	9	6	1	0	2	0	2	0	1	1	4	0	3	0	1	2	4	0	1	5	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:27229191T>G	ENST00000380036.4	+	23	3778	c.3336T>G	c.(3334-3336)acT>acG	p.T1112T	TEK_ENST00000519097.1_Silent_p.T964T|TEK_ENST00000406359.4_Silent_p.T1069T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1112					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AGAAGTTTACTTATGCAGGAA	0.473																																																	0													186	167	173					9																	27229191		2203	4300	6503	SO:0001819	synonymous_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.3336T>G	9.37:g.27229191T>G			A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T1112	ENST00000380036.4	37	c.3336	CCDS6519.1	9																																																																																			TEK	-	superfamily_Kinase-like_dom	ENSG00000120156		0.473	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0	80	0	T			27229191	1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	silent	47.06	36	32	SNP	1.000	G	G	27229191	T	G	27229191	2	3	84	1	0	0	0	0	0	0	0	1	15798	1596	56	4		4	TEK	9	27229191	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	31690	27229191	113984240	151	22346											
C9orf131	138724	genome.wustl.edu	37	chr9	35043395	35043395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagttttctacccatgggGcccatactatggaagatcta	10	11	8	12	0	2	1	0	0	2	1	2	2	2	2	3	3	2	1	3	3	5	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:35043395G>T	ENST00000312292.5	+	2	816	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	C9orf131_ENST00000421362.2_Missense_Mutation_p.A209S|C9orf131_ENST00000354479.5_Missense_Mutation_p.A184S|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	257										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TACCCATGGGGCCCATACTAT	0.517																																																	0													143	133	136					9																	35043395		2203	4300	6503	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.769G>T	9.37:g.35043395G>T	ENSP00000308279:p.Ala257Ser		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.A257S	ENST00000312292.5	37	c.769	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332846	0.60853	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745	T;T;T;T	0.35789	2.24;2.23;2.25;1.29	4.95	2.88	0.33553	.	1.016850	0.07898	N	0.972111	T	0.40297	0.1111	L	0.55481	1.735	0.09310	N	1	P;P;P	0.50819	0.939;0.939;0.939	B;P;P	0.48627	0.445;0.584;0.584	T	0.28744	-1.0034	10	0.72032	D	0.01	-0.2094	5.6979	0.17865	0.2601:0.0:0.7399:0.0	.	257;184;209	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	S	209;184;257;222	ENSP00000393683:A209S;ENSP00000346472:A184S;ENSP00000308279:A257S;ENSP00000368019:A222S	ENSP00000308279:A257S	A	+	1	0	C9orf131	35033395	0.001000	0.12720	0.019000	0.16419	0.136000	0.21042	0.300000	0.19156	1.246000	0.43901	0.650000	0.86243	GCC	C9orf131	-	NULL	ENSG00000174038		0.517	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5		0	28	0	G	NM_203299		35043395	1			no_errors	ENST00000312292	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.004	T	T	35043395	G	T	35043395	3	4	84	1	0	0	0	0	1	0	0	0	2464	1203	42	3	791	3	C9orf131	9	35043395	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7814204	35043395	106170036	152	22347											
NPR2	4882	genome.wustl.edu	37	chr9	35809417	35809417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactggctcttaggagagcGgaaaggacctcctggactcc	10	8	12	11	1	1	1	0	0	1	1	3	5	3	4	3	5	2	1	3	5	3	2	rs146546770		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:35809417G>A	ENST00000342694.2	+	22	3374	c.3119G>A	c.(3118-3120)cGg>cAg	p.R1040Q	SPAG8_ENST00000340291.2_Silent_p.S452S|SPAG8_ENST00000479751.1_5'Flank|AL133410.1_ENST00000582432.1_RNA	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	1040					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTAGGAGAGCGGAAAGGACCT	0.517																																																	0								G	GLN/ARG,	2,4404	4.2+/-10.8	0,2,2201	263	256	258		3119,1356	-2.9	0.5	9	dbSNP_134	258	0,8600		0,0,4300	no	missense,coding-synonymous	NPR2,SPAG8	NM_003995.3,NM_172312.1	43,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,	1040/1048,452/502	35809417	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.3119G>A	9.37:g.35809417G>A	ENSP00000341083:p.Arg1040Gln		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.R1040Q	ENST00000342694.2	37	c.3119	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838632	0.32513	4.54E-4	0.0	ENSG00000159899	ENST00000342694	T	0.80909	-1.43	5.86	-2.89	0.05665	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.451712	0.16037	N	0.232583	T	0.64136	0.2571	.	.	.	0.43555	D	0.995864	B	0.17852	0.024	B	0.12837	0.008	T	0.41431	-0.9509	9	0.15066	T	0.55	1.0E-4	12.0758	0.53643	0.4923:0.0:0.5077:0.0	.	1040	P20594	ANPRB_HUMAN	Q	1040	ENSP00000341083:R1040Q	ENSP00000341083:R1040Q	R	+	2	0	NPR2	35799417	0.998000	0.40836	0.507000	0.27676	0.982000	0.71751	1.230000	0.32612	-0.973000	0.03555	-0.122000	0.15005	CGG	NPR2	-	NULL	ENSG00000159899		0.517	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	-	0	56	0	G			35809417	1	tier1	rs146546770	no_errors	ENST00000342694	ensembl	human	known	74_37	missense	9.09	80	8	SNP	0.711	A	A	35809417	G	A	35809417	3	1	84	1	0	0	0	0	1	0	0	0	10634	1116	39	1	3205	1	NPR2	9	35809417	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	766022	35809417	105404014	153	22348											
FAM75A6	389730	genome.wustl.edu	37	chr9	43627999	43627999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttatcagtgtggagtcccGcaggggaggagcagtgaagc	10	7	17	7	1	1	1	1	1	0	0	2	4	2	4	1	4	2	3	1	4	2	1	rs562864863	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:43627999G>A	ENST00000332857.6	-	4	716	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	230					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTGGAGTCCCGCAGGGGAGGA	0.587													G|||	65	0.0129792	0.0469	0.0014	5008	,	,		16086	0		0	False		,,,				2504	0.002																0																																										SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.688C>T	9.37:g.43627999G>A	ENSP00000329825:p.Arg230Trp			Missense_Mutation	SNP	NULL	p.R230W	ENST00000332857.6	37	c.688	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	G	5.300	0.240738	0.10077	.	.	ENSG00000185775	ENST00000332857	T	0.04502	3.61	1.54	-0.533	0.11887	.	0.927636	0.08745	N	0.899951	T	0.05410	0.0143	L	0.58101	1.795	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.42965	-0.9420	10	0.51188	T	0.08	4.561	2.3745	0.04338	0.1931:0.0:0.5176:0.2894	.	230	Q5VVP1	F75A6_HUMAN	W	230	ENSP00000329825:R230W	ENSP00000329825:R230W	R	-	1	2	FAM75A6	43567995	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.211000	0.09332	-0.163000	0.10946	-1.277000	0.01392	CGG	SPATA31A6	-	NULL	ENSG00000185775		0.587	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0	8	0	G	NM_001145196		43627999	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	93.75	1	15	SNP	0.000	A	A	43627999	G	A	43627999	3	1	84	1	0	0	0	0	1	0	0	0	5644	1086	38	1	3347	1	FAM75A6	9	43627999	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7818582	43627999	97585432	154	22349											
APBA1	320	genome.wustl.edu	37	chr9	72091020	72091020	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagagatgtgcttgatgActctgcacccaagggggagg	10	8	16	7	0	1	4	0	3	1	1	1	6	1	5	1	3	2	2	1	3	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:72091020A>C	ENST00000265381.4	-	3	1462	c.1240T>G	c.(1240-1242)Tca>Gca	p.S414A	RP11-470P21.2_ENST00000429567.2_RNA	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	414	LIN-2/CASK binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTGCTTGATGACTCTGCACCC	0.522																																																	0													93	86	89					9																	72091020		2203	4300	6503	SO:0001583	missense	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1240T>G	9.37:g.72091020A>C	ENSP00000265381:p.Ser414Ala		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.S414A	ENST00000265381.4	37	c.1240	CCDS6630.1	9	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015204	0.54468	.	.	ENSG00000107282	ENST00000265381	T	0.04317	3.65	5.63	5.63	0.86233	.	0.066768	0.64402	D	0.000007	T	0.08846	0.0219	L	0.60455	1.87	0.51482	D	0.999926	P	0.46656	0.882	B	0.43701	0.428	T	0.33445	-0.9868	10	0.25106	T	0.35	.	15.841	0.78845	1.0:0.0:0.0:0.0	.	414	Q02410	APBA1_HUMAN	A	414	ENSP00000265381:S414A	ENSP00000265381:S414A	S	-	1	0	APBA1	71280840	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.060000	0.76692	2.146000	0.66826	0.459000	0.35465	TCA	APBA1	-	NULL	ENSG00000107282		0.522	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	-	0	46	0	A	NM_001163		72091020	-1	tier1	-	no_errors	ENST00000265381	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	C	C	72091020	A	C	72091020	3	2	84	1	0	0	0	0	1	0	0	0	756	275	10	4	1317	4	APBA1	9	72091020	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	28463021	72091020	69122411	155	22350											
ALDH1A1	216	genome.wustl.edu	37	chr9	75567891	75567891	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcggtgagtaggacaggtAagtctggcgtgcctgaggat	10	9	16	6	2	1	2	0	2	1	0	2	4	1	4	1	5	1	2	1	5	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:75567891A>C	ENST00000297785.3	-	1	80	c.26T>G	c.(25-27)tTa>tGa	p.L9*	ALDH1A1_ENST00000376939.1_Nonsense_Mutation_p.L9*|ALDH1A1_ENST00000482210.1_5'Flank	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	9					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TAGGACAGGTAAGTCTGGCGT	0.413																																																	0													116	105	109					9																	75567891		2203	4299	6502	SO:0001587	stop_gained	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.26T>G	9.37:g.75567891A>C	ENSP00000297785:p.Leu9*		O00768|Q5SYR1	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.L9*	ENST00000297785.3	37	c.26	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	A	36	5.949866	0.97139	.	.	ENSG00000165092	ENST00000297785;ENST00000376939;ENST00000428593;ENST00000419959;ENST00000446946	.	.	.	5.96	5.96	0.96718	.	0.484707	0.18811	N	0.130517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9988	0.71455	1.0:0.0:0.0:0.0	.	.	.	.	X	9;9;23;9;9	.	ENSP00000297785:L9X	L	-	2	0	ALDH1A1	74757711	0.999000	0.42202	0.933000	0.37362	0.459000	0.32528	5.430000	0.66501	2.279000	0.76181	0.533000	0.62120	TTA	ALDH1A1	-	superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.413	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	-	0	70	0	A			75567891	-1	tier1	-	no_errors	ENST00000297785	ensembl	human	known	74_37	nonsense	22.37	59	17	SNP	0.996	C	C	75567891	A	C	75567891	4	2	84	1	0	0	0	0	0	1	0	0	490	372	13	4	1531	4	ALDH1A1	9	75567891	Nonsense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	3476871	75567891	65645540	156	22351											
FANCC	2176	genome.wustl.edu	37	chr9	97869549	97869549	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagcacggccttcacctgGacctgggcaatagtatttca	9	9	9	14	1	2	0	2	0	0	0	2	1	2	1	4	3	1	3	4	3	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:97869549G>T	ENST00000289081.3	-	14	1586	c.1332C>A	c.(1330-1332)gtC>gtA	p.V444V	FANCC_ENST00000375305.1_Silent_p.V444V	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	444					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CCTTCACCTGGACCTGGGCAA	0.542			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0													56	51	53					9																	97869549		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1332C>A	9.37:g.97869549G>T			B1ALR8	Silent	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.V444	ENST00000289081.3	37	c.1332	CCDS35071.1	9																																																																																			FANCC	-	pfam_Fanconi,pirsf_Fanconi	ENSG00000158169		0.542	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	-	0	29	0	G	NM_000136		97869549	-1	tier1	-	no_errors	ENST00000289081	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.199	T	T	97869549	G	T	97869549	2	4	84	1	0	0	0	0	0	0	0	1	5686	1161	41	3		3	FANCC	9	97869549	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	22301658	97869549	43343882	157	22352											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100124039	100124039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaccaggaggaagacaGtgacatcctgacatcttcag	14	6	12	9	0	2	3	1	2	1	1	3	7	3	6	2	3	0	0	2	3	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:100124039G>T	ENST00000357054.1	+	38	4495	c.3560G>T	c.(3559-3561)aGt>aTt	p.S1187I	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.S1216I|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1216I			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1187						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GAGGAAGACAGTGACATCCTG	0.617																																																	0													87	71	76					9																	100124039		2203	4300	6503	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3560G>T	9.37:g.100124039G>T	ENSP00000349562:p.Ser1187Ile		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.S1216I	ENST00000357054.1	37	c.3647		9	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344839	0.41498	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.09911	2.97;2.93;2.93	5.37	4.46	0.54185	.	0.274253	0.32473	N	0.006046	T	0.26195	0.0639	M	0.67953	2.075	0.80722	D	1	D;P	0.76494	0.999;0.944	D;P	0.74023	0.982;0.629	T	0.00170	-1.1961	10	0.37606	T	0.19	-12.2413	9.3345	0.38043	0.096:0.0:0.904:0.0	.	1355;1187	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	I	1187;1216;1216	ENSP00000349562:S1187I;ENSP00000364348:S1216I;ENSP00000434727:S1216I	ENSP00000349562:S1187I	S	+	2	0	C9orf174	99163860	1.000000	0.71417	0.972000	0.41901	0.014000	0.08584	2.839000	0.48207	2.687000	0.91594	0.655000	0.94253	AGT	CCDC180	-	NULL	ENSG00000197816		0.617	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0	35	0	G	NM_020893		100124039	1	tier1	-	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.903	T	T	100124039	G	T	100124039	3	4	84	1	0	0	0	0	1	0	0	0	8267	1029	36	3	3666	3	KIAA1529	9	100124039	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	2254490	100124039	41089392	158	22353											
OR13C2	392376	genome.wustl.edu	37	chr9	107367226	107367226	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcccctcggaagagctaAttttgaagatgctcacaatg	11	12	8	10	1	2	3	1	1	1	2	4	4	2	4	2	1	2	2	2	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:107367226A>C	ENST00000542196.1	-	1	725	c.683T>G	c.(682-684)aTt>aGt	p.I228S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGAAGAGCTAATTTTGAAGAT	0.403																																																	0													101	98	99					9																	107367226		2201	4300	6501	SO:0001583	missense	0				CCDS35092.1	9q31.1	2012-10-03			ENSG00000257019	ENSG00000276119		"GPCR / Class A : Olfactory receptors"	14701	protein-coding gene	gene with protein product							Standard	NM_001004481		Approved		uc011lvq.2	Q8NGS9	OTTHUMG00000020415	ENST00000542196.1:c.683T>G	9.37:g.107367226A>C	ENSP00000438815:p.Ile228Ser		B9EGV8|Q6IF54	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I228S	ENST00000542196.1	37	c.683	CCDS35092.1	9	.	.	.	.	.	.	.	.	.	.	A	8.257	0.810242	0.16537	.	.	ENSG00000257019	ENST00000542196	T	0.00277	8.34	3.41	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.201133	0.24145	U	0.041127	T	0.00637	0.0021	M	0.88450	2.955	0.09310	N	1	P	0.44344	0.833	P	0.59171	0.853	T	0.08597	-1.0714	10	0.87932	D	0	.	9.8502	0.41053	1.0:0.0:0.0:0.0	.	228	Q8NGS9	O13C2_HUMAN	S	228	ENSP00000438815:I228S	ENSP00000438815:I228S	I	-	2	0	OR13C2	106407047	0.442000	0.25633	0.005000	0.12908	0.022000	0.10575	2.024000	0.41049	1.422000	0.47177	0.260000	0.18958	ATT	OR13C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000257019		0.403	OR13C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C2	HGNC	protein_coding	OTTHUMT00000053489.2	-	0	39	0	A	NM_001004481		107367226	-1	tier1	-	no_errors	ENST00000542196	ensembl	human	known	74_37	missense	32.26	63	30	SNP	0.002	C	C	107367226	A	C	107367226	3	2	84	1	0	0	0	0	1	0	0	0	10973	101	4	4	276	4	OR13C2	9	107367226	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	7243187	107367226	33846205	159	22354											
OR13C9	286362	genome.wustl.edu	37	chr9	107379691	107379691	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctgaattaagtgtctcTttagacttgggcttcatata	10	17	7	7	0	4	2	2	1	2	1	5	2	4	2	0	1	0	1	0	1	5	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:107379691T>A	ENST00000259362.1	-	1	794	c.795A>T	c.(793-795)aaA>aaT	p.K265N		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TAAGTGTCTCTTTAGACTTGG	0.413																																																	0													145	135	138					9																	107379691		2203	4300	6503	SO:0001583	missense	0				CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"GPCR / Class A : Olfactory receptors"	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.795A>T	9.37:g.107379691T>A	ENSP00000259362:p.Lys265Asn		Q6IFL2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K265N	ENST00000259362.1	37	c.795	CCDS35093.1	9	.	.	.	.	.	.	.	.	.	.	T	8.777	0.927404	0.18056	.	.	ENSG00000136839	ENST00000259362	T	0.00107	8.72	4.46	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000100	T	0.00210	0.0006	N	0.25245	0.725	0.09310	N	1	D	0.59767	0.986	P	0.62491	0.903	T	0.56032	-0.8046	10	0.44086	T	0.13	.	7.9348	0.29923	0.0:0.1858:0.0:0.8142	.	265	Q8NGT0	O13C9_HUMAN	N	265	ENSP00000259362:K265N	ENSP00000259362:K265N	K	-	3	2	OR13C9	106419512	0.782000	0.28689	0.905000	0.35620	0.255000	0.26057	1.086000	0.30853	0.230000	0.21059	-1.171000	0.01739	AAA	OR13C9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000136839		0.413	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C9	HGNC	protein_coding	OTTHUMT00000053490.1	-	0	71	0	T			107379691	-1	tier1	-	no_errors	ENST00000259362	ensembl	human	known	74_37	missense	26.67	66	24	SNP	0.001	A	A	107379691	T	A	107379691	3	1	84	1	0	0	0	0	1	0	0	0	10978	1606	56	5	164	5	OR13C9	9	107379691	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	12465	107379691	33833740	160	22355											
PAPPA	5069	genome.wustl.edu	37	chr9	118950282	118950282	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaagattggggatgAgaactgtgaccccgagtgca	12	7	13	9	1	1	3	1	2	0	2	1	6	1	4	2	2	3	2	2	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:118950282A>T	ENST00000328252.3	+	2	1634	c.1265A>T	c.(1264-1266)gAg>gTg	p.E422V	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	422	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTGGGGATGAGAACTGTGAC	0.627																																																	0													70	60	63					9																	118950282		2203	4300	6503	SO:0001583	missense	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1265A>T	9.37:g.118950282A>T	ENSP00000330658:p.Glu422Val		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.E422V	ENST00000328252.3	37	c.1265	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705615	0.48412	.	.	ENSG00000182752	ENST00000328252	D	0.91686	-2.89	6.17	6.17	0.99709	Notch domain (2);	0.101611	0.64402	D	0.000001	D	0.92890	0.7738	L	0.43152	1.355	0.80722	D	1	D	0.62365	0.991	P	0.60682	0.878	D	0.93010	0.6431	10	0.66056	D	0.02	-28.2076	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	422	Q13219	PAPP1_HUMAN	V	422	ENSP00000330658:E422V	ENSP00000330658:E422V	E	+	2	0	PAPPA	117990103	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.492000	0.66893	2.371000	0.80710	0.533000	0.62120	GAG	PAPPA	-	pfam_Notch_dom,smart_Notch_dom	ENSG00000182752		0.627	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	-	0	19	0	A	NM_002581		118950282	1	tier1	-	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	T	T	118950282	A	T	118950282	3	4	84	1	0	0	0	0	1	0	0	0	11471	304	11	5	1271	5	PAPPA	9	118950282	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	11570591	118950282	22263149	161	22356											
PIP5KL1	138429	genome.wustl.edu	37	chr9	130692076	130692076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcaaacaggcccaggCgagactgcttgtctcggagg	9	8	13	11	2	2	2	1	1	2	1	4	4	2	3	1	4	2	1	1	4	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:130692076C>A	ENST00000388747.4	-	2	163	c.119G>T	c.(118-120)cGc>cTc	p.R40L	PIP5KL1_ENST00000300432.3_5'Flank|PIP5KL1_ENST00000490773.1_5'Flank	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	40	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CAGGCCCAGGCGAGACTGCTT	0.662																																																	0													18	19	19					9																	130692076		1551	3541	5092	SO:0001583	missense	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.119G>T	9.37:g.130692076C>A	ENSP00000373399:p.Arg40Leu		Q8IVS3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R40L	ENST00000388747.4	37	c.119	CCDS48030.1	9	.	.	.	.	.	.	.	.	.	.	C	4.384	0.070916	0.08436	.	.	ENSG00000167103	ENST00000388747	T	0.41758	0.99	5.29	4.31	0.51392	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.079819	0.47455	D	0.000238	T	0.22126	0.0533	N	0.11064	0.09	0.26889	N	0.967369	B	0.12630	0.006	B	0.12837	0.008	T	0.08576	-1.0715	10	0.27082	T	0.32	-22.3071	9.4764	0.38873	0.265:0.735:0.0:0.0	.	40	Q5T9C9	PI5L1_HUMAN	L	40	ENSP00000373399:R40L	ENSP00000373399:R40L	R	-	2	0	PIP5KL1	129731897	1.000000	0.71417	0.558000	0.28319	0.991000	0.79684	3.702000	0.54800	2.446000	0.82766	0.561000	0.74099	CGC	PIP5KL1	-	NULL	ENSG00000167103		0.662	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	-	0	28	0	C	NM_173492		130692076	-1	tier1	-	no_errors	ENST00000388747	ensembl	human	novel	74_37	missense	36.84	12	7	SNP	0.334	A	A	130692076	C	A	130692076	3	1	84	1	0	0	0	0	1	0	0	0	11981	768	27	2	1101	2	PIP5KL1	9	130692076	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	11741794	130692076	10521355	162	22357											
TSC1	7248	genome.wustl.edu	37	chr9	135772673	135772673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctaagatctccaattcaAacacctgggttatccttttc	12	14	4	11	0	3	1	1	0	2	1	6	1	4	1	3	1	1	1	3	1	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr9:135772673A>G	ENST00000298552.3	-	22	3094	c.2873T>C	c.(2872-2874)tTt>tCt	p.F958S	TSC1_ENST00000440111.2_Missense_Mutation_p.F958S|TSC1_ENST00000545250.1_Missense_Mutation_p.F907S	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	958					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTCCAATTCAAACACCTGGGT	0.448			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)											120	125	123					9																	135772673		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2873T>C	9.37:g.135772673A>G	ENSP00000298552:p.Phe958Ser		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.F958S	ENST00000298552.3	37	c.2873	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	A	20.6	4.021165	0.75275	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;T	0.81659	-1.52;-1.52;-1.33	5.61	5.61	0.85477	.	0.184388	0.49916	D	0.000139	T	0.78904	0.4357	L	0.59436	1.845	0.80722	D	1	P;P	0.37398	0.593;0.593	B;B	0.37304	0.123;0.246	T	0.80650	-0.1288	10	0.59425	D	0.04	-6.531	14.9826	0.71321	1.0:0.0:0.0:0.0	.	907;958	B7Z897;Q92574	.;TSC1_HUMAN	S	958;958;907	ENSP00000298552:F958S;ENSP00000394524:F958S;ENSP00000444017:F907S	ENSP00000298552:F958S	F	-	2	0	TSC1	134762494	1.000000	0.71417	0.887000	0.34795	0.998000	0.95712	9.297000	0.96120	2.137000	0.66172	0.528000	0.53228	TTT	TSC1	-	NULL	ENSG00000165699		0.448	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0	47	0	A			135772673	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	G	G	135772673	A	G	135772673	3	3	84	1	0	0	0	0	1	0	0	0	16653	14	1	4	629	4	TSC1	9	135772673	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	5080597	135772673	5440758	163	22358											
UCMA	221044	genome.wustl.edu	37	chr10	13264168	13264168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtgccactggcgccactGctccacagcctcccggctcc	6	7	9	19	2	0	0	0	0	0	0	3	0	3	0	6	2	3	2	6	2	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:13264168G>T	ENST00000378681.3	-	5	424	c.352C>A	c.(352-354)Cag>Aag	p.Q118K	UCMA_ENST00000463405.2_Missense_Mutation_p.Q96K	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	118					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGGCGCCACTGCTCCACAGCC	0.607																																																	0													108	94	99					10																	13264168		2203	4300	6503	SO:0001583	missense	0			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 49"	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.352C>A	10.37:g.13264168G>T	ENSP00000367952:p.Gln118Lys			Missense_Mutation	SNP	NULL	p.Q118K	ENST00000378681.3	37	c.352	CCDS31147.1	10	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477742	0.84640	.	.	ENSG00000165623	ENST00000378681	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.72118	2.19	0.53688	D	0.999978	D	0.71674	0.998	D	0.78314	0.991	T	0.80607	-0.1307	9	0.87932	D	0	-5.0589	15.5703	0.76330	0.0:0.0:1.0:0.0	.	118	Q8WVF2	UCMA_HUMAN	K	118	.	ENSP00000367952:Q118K	Q	-	1	0	UCMA	13304174	1.000000	0.71417	0.989000	0.46669	0.892000	0.51952	6.819000	0.75262	2.412000	0.81896	0.448000	0.29417	CAG	UCMA	-	NULL	ENSG00000165623		0.607	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCMA	HGNC	protein_coding	OTTHUMT00000046843.2		0	30	0	G	NM_145314		13264168	-1			no_errors	ENST00000378681	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	13264168	G	T	13264168	3	4	84	1	0	0	0	0	1	0	0	0	16975	1328	46	3	68	3	UCMA	10	13264168	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09		13264168	122270579	164	22359											
CACNB2	783	genome.wustl.edu	37	chr10	18827127	18827127	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagctgttcgatgtgatcTtggatgagaaccagcttgag	10	11	14	6	1	1	3	0	3	1	1	2	7	1	5	1	2	3	3	1	2	1	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:18827127T>C	ENST00000324631.7	+	13	1381	c.1321T>C	c.(1321-1323)Ttg>Ctg	p.L441L	CACNB2_ENST00000377315.4_Silent_p.L393L|CACNB2_ENST00000282343.8_Silent_p.L413L|CACNB2_ENST00000377319.3_Silent_p.L348L|CACNB2_ENST00000352115.6_Silent_p.L417L|CACNB2_ENST00000377331.2_Silent_p.L389L|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000396576.2_Silent_p.L386L|CACNB2_ENST00000377329.4_Silent_p.L387L|CACNB2_ENST00000377328.1_Silent_p.L191L	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	441					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGATGTGATCTTGGATGAGAA	0.577																																																	0													165	145	152					10																	18827127		2203	4300	6503	SO:0001819	synonymous_variant	0			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"Calcium channel subunits"	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1321T>C	10.37:g.18827127T>C			A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su	p.L441	ENST00000324631.7	37	c.1321	CCDS7125.1	10																																																																																			CACNB2	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu	ENSG00000165995		0.577	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB2	HGNC	protein_coding	OTTHUMT00000047072.2	-	0	69	0	T	NM_000724		18827127	1	tier1	-	no_errors	ENST00000324631	ensembl	human	known	74_37	silent	22.43	83	24	SNP	0.993	C	C	18827127	T	C	18827127	2	2	84	1	0	0	0	0	0	0	0	1	2560	1606	56	4		4	CACNB2	10	18827127	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	5562959	18827127	116707620	165	22360											
ANKRD26	22852	genome.wustl.edu	37	chr10	27323846	27323846	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttttcactctcagcttgaAgtttttgcacaatagcatga	10	15	7	9	0	2	2	2	2	1	0	3	2	2	2	0	0	3	5	0	0	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:27323846A>C	ENST00000376087.4	-	24	3698	c.3533T>G	c.(3532-3534)cTt>cGt	p.L1178R	ANKRD26_ENST00000436985.2_Missense_Mutation_p.L1194R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.L735R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1177					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CTCAGCTTGAAGTTTTTGCAC	0.358																																																	0													192	179	183					10																	27323846		1874	4102	5976	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3533T>G	10.37:g.27323846A>C	ENSP00000365255:p.Leu1178Arg		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L1194R	ENST00000376087.4	37	c.3581	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	A	8.337	0.827791	0.16749	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.27890	1.64;1.64;1.64	5.64	3.21	0.36854	.	0.441232	0.18488	N	0.139735	T	0.46600	0.1401	M	0.70595	2.14	0.09310	N	1	D;D;D	0.71674	0.998;0.996;0.988	P;P;P	0.61132	0.884;0.768;0.797	T	0.33675	-0.9859	10	0.87932	D	0	.	7.4542	0.27257	0.7102:0.1482:0.0:0.1416	.	1178;1177;1194	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	R	735;1178;1194	ENSP00000365238:L735R;ENSP00000365255:L1178R;ENSP00000405112:L1194R	ENSP00000365238:L735R	L	-	2	0	ANKRD26	27363852	1.000000	0.71417	0.000000	0.03702	0.123000	0.20343	7.937000	0.87672	0.367000	0.24454	0.482000	0.46254	CTT	ANKRD26	-	NULL	ENSG00000107890		0.358	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0	24	0	A			27323846	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	22.81	44	13	SNP	0.005	C	C	27323846	A	C	27323846	3	2	84	1	0	0	0	0	1	0	0	0	654	72	3	4	1643	4	ANKRD26	10	27323846	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	8496719	27323846	108210901	166	22361											
PARD3	56288	genome.wustl.edu	37	chr10	34625164	34625164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtattgagtttagtctcGtcagctactgttaaaaggta	11	15	9	6	1	2	1	1	1	1	0	3	1	2	1	0	1	2	5	0	1	6	7	rs374061315		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:34625164G>A	ENST00000374789.3	-	18	2902	c.2577C>T	c.(2575-2577)gaC>gaT	p.D859D	PARD3_ENST00000346874.4_Silent_p.D859D|PARD3_ENST00000374788.3_Silent_p.D856D|PARD3_ENST00000545693.1_Silent_p.D843D|PARD3_ENST00000545260.1_Silent_p.D769D|PARD3_ENST00000350537.4_Silent_p.D813D|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000374790.3_Silent_p.D799D|PARD3_ENST00000374773.1_Silent_p.D826D|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374776.1_Silent_p.D813D|PARD3_ENST00000340077.5_Silent_p.D856D|PARD3_ENST00000544292.1_Silent_p.D572D	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	859	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTTAGTCTCGTCAGCTACTG	0.413																																																	0								G	,,,,,,,,,,	0,4406		0,0,2203	242	194	211		2568,2529,2577,2439,2439,2307,,2568,2475,2439,2577	6	1	10		211	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PARD3	NM_001184785.1,NM_001184786.1,NM_001184787.1,NM_001184788.1,NM_001184789.1,NM_001184790.1,NM_001184791.1,NM_001184792.1,NM_001184793.1,NM_001184794.1,NM_019619.3	,,,,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,	856/1354,843/1341,859/1320,813/1311,813/1274,769/1267,,856/1032,825/1001,813/989,859/1357	34625164	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2577C>T	10.37:g.34625164G>A			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D859	ENST00000374789.3	37	c.2577	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1		0	52	0	G	NM_019619		34625164	-1			no_errors	ENST00000374789	ensembl	human	known	74_37	silent	5.56	85	5	SNP	1.000	A	A	34625164	G	A	34625164	2	1	84	1	0	0	0	0	0	0	0	1	11482	1136	40	1		1	PARD3	10	34625164	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7301318	34625164	100909583	167	22362											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37422955	37422955	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggagtaactgcagaacaTtatgctgttacttgtggatt	10	15	11	5	0	0	1	0	0	0	1	0	3	0	3	0	2	5	4	0	2	4	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:37422955T>G	ENST00000602533.1	+	5	660	c.561T>G	c.(559-561)caT>caG	p.H187Q	RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H187Q|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.H187Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	243					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTGCAGAACATTATGCTGTTA	0.378																																																	0													323	301	308					10																	37422955		1897	4116	6013	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.561T>G	10.37:g.37422955T>G	ENSP00000473551:p.His187Gln		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H187Q	ENST00000602533.1	37	c.561		10	.	.	.	.	.	.	.	.	.	.	.	9.497	1.102298	0.20632	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.72167	-0.63;-0.55	1.43	0.0244	0.14141	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.59183	0.2175	L	0.52905	1.665	0.09310	N	1	B	0.23650	0.089	B	0.17722	0.019	T	0.51348	-0.8717	9	0.54805	T	0.06	.	3.3927	0.07295	0.6047:0.0:0.0:0.3953	.	243	Q9BXX3	AN30A_HUMAN	Q	187	ENSP00000354432:H187Q;ENSP00000363792:H187Q	ENSP00000354432:H187Q	H	+	3	2	ANKRD30A	37462961	0.053000	0.20554	0.005000	0.12908	0.024000	0.10985	-0.761000	0.04751	-0.159000	0.11021	0.240000	0.17902	CAT	ANKRD30A	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000148513		0.378	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	103	0	T	NM_052997		37422955	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	24.09	104	33	SNP	0.189	G	G	37422955	T	G	37422955	3	3	84	1	0	0	0	0	1	0	0	0	658	1490	52	4	579	4	ANKRD30A	10	37422955	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	2797791	37422955	98111792	168	22363											
FAM13C	220965	genome.wustl.edu	37	chr10	61112095	61112095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgggcttcctggacttgaAgttgcccatgctgggtcgca	5	12	13	11	1	0	1	0	1	0	0	2	2	1	2	2	3	2	4	2	3	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:61112095A>G	ENST00000373868.2	-	3	346	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L	FAM13C_ENST00000277705.6_Missense_Mutation_p.F87L|FAM13C_ENST00000373867.3_Missense_Mutation_p.F4L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F87L|FAM13C_ENST00000419214.2_Missense_Mutation_p.F87L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F87L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F4L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F87L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	87										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGGACTTGAAGTTGCCCATG	0.587																																																	0													84	82	83					10																	61112095		2203	4300	6503	SO:0001583	missense	0			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"family with sequence similarity 13, member C1"	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.259T>C	10.37:g.61112095A>G	ENSP00000362975:p.Phe87Leu		B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.F87L	ENST00000373868.2	37	c.259	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	A	25.5	4.646574	0.87958	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000512919;ENST00000503444	T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01	5.8	5.8	0.92144	.	0.089188	0.50627	D	0.000116	T	0.54647	0.1871	L	0.42245	1.32	0.34432	D	0.698671	B;B;B;B;B	0.20052	0.002;0.009;0.011;0.041;0.001	B;B;B;B;B	0.20184	0.006;0.013;0.009;0.028;0.004	T	0.61292	-0.7092	10	0.32370	T	0.25	.	13.5716	0.61849	1.0:0.0:0.0:0.0	.	87;4;87;87;87	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	4;87;87;87;87;4;87;87;4;4	ENSP00000362975:F87L;ENSP00000395661:F87L;ENSP00000277705:F87L;ENSP00000391993:F87L;ENSP00000392302:F87L;ENSP00000400241:F87L	ENSP00000277705:F87L	F	-	1	0	FAM13C	60782101	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.979000	0.63806	2.227000	0.72691	0.456000	0.33151	TTC	FAM13C	-	NULL	ENSG00000148541		0.587	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	-	0	49	0	A			61112095	-1	tier1	-	no_errors	ENST00000373868	ensembl	human	known	74_37	missense	16.88	64	13	SNP	1.000	G	G	61112095	A	G	61112095	3	3	84	1	0	0	0	0	1	0	0	0	5473	72	3	4	1546	4	FAM13C	10	61112095	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	23689140	61112095	74422652	169	22364											
ANK3	288	genome.wustl.edu	37	chr10	61836146	61836146	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggtatggtcttgtagaaAagaatggcttgtatgagtaa	13	13	12	3	0	1	3	0	1	1	2	1	3	1	3	0	3	0	5	0	3	7	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:61836146A>C	ENST00000280772.2	-	37	4684	c.4493T>G	c.(4492-4494)tTt>tGt	p.F1498C	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1498					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTGTAGAAAAGAATGGCTT	0.428																																																	0													78	80	79					10																	61836146		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4493T>G	10.37:g.61836146A>C	ENSP00000280772:p.Phe1498Cys		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.F1498C	ENST00000280772.2	37	c.4493	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217570	0.58560	.	.	ENSG00000151150	ENST00000280772	T	0.74209	-0.82	5.87	5.87	0.94306	.	0.000000	0.43260	D	0.000581	D	0.84750	0.5541	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86191	0.1612	10	0.87932	D	0	.	16.2632	0.82562	1.0:0.0:0.0:0.0	.	1498	Q12955	ANK3_HUMAN	C	1498	ENSP00000280772:F1498C	ENSP00000280772:F1498C	F	-	2	0	ANK3	61506152	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.247000	0.74100	0.477000	0.44152	TTT	ANK3	-	NULL	ENSG00000151150		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	117	0	A	NM_020987		61836146	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	56.74	93	122	SNP	1.000	C	C	61836146	A	C	61836146	3	2	84	1	0	0	0	0	1	0	0	0	622	14	1	4	8981	4	ANK3	10	61836146	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	724051	61836146	73698601	170	22365											
VCL	7414	genome.wustl.edu	37	chr10	75873970	75873970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcattgcagcagccaagcGcatggctctgctgatggctg	8	9	12	12	1	2	1	1	1	1	0	2	1	2	1	1	2	5	6	1	2	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:75873970G>A	ENST00000211998.4	+	20	3072	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	VCL_ENST00000417648.2_Missense_Mutation_p.R186H|VCL_ENST00000372755.3_Missense_Mutation_p.R925H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	993	C-terminal tail.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCAGCCAAGCGCATGGCTCTG	0.562																																																	0													85	70	75					10																	75873970		2203	4300	6503	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.2978G>A	10.37:g.75873970G>A	ENSP00000211998:p.Arg993His		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.R993H	ENST00000211998.4	37	c.2978	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.460829	0.96240	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.28504	0.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75484	0.982;0.986;0.936;0.976	T	0.45934	-0.9227	10	0.33940	T	0.23	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	186;852;925;993	B4DTM7;F5H7T3;P18206-2;P18206	.;.;.;VINC_HUMAN	H	925;993;186;900;852;665	ENSP00000361841:R925H;ENSP00000211998:R993H;ENSP00000411887:R186H;ENSP00000415489:R665H	ENSP00000211998:R993H	R	+	2	0	VCL	75543976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.835000	0.97688	0.650000	0.86243	CGC	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.562	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0	23	0	G	NM_003373, NM_014000		75873970	1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	A	A	75873970	G	A	75873970	3	1	84	1	0	0	0	0	1	0	0	0	17188	1087	38	1	3056	1	VCL	10	75873970	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	14037824	75873970	59660777	171	22366											
NRG3	10718	genome.wustl.edu	37	chr10	84745032	84745032	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttagaggaaacctgcctgCaaatgccagggatttctgaa	12	10	11	8	0	1	2	0	1	1	1	1	4	1	4	3	2	4	2	3	2	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:84745032C>T	ENST00000404547.1	+	10	1834	c.1834C>T	c.(1834-1836)Caa>Taa	p.Q612*	NRG3_ENST00000404576.2_Nonsense_Mutation_p.Q392*|NRG3_ENST00000372142.2_Nonsense_Mutation_p.Q391*|NRG3_ENST00000537893.1_Nonsense_Mutation_p.Q238*|NRG3_ENST00000556918.1_Nonsense_Mutation_p.Q418*|NRG3_ENST00000545131.1_Nonsense_Mutation_p.Q238*|NRG3_ENST00000372141.2_Nonsense_Mutation_p.Q588*			P56975	NRG3_HUMAN	neuregulin 3	612					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AACCTGCCTGCAAATGCCAGG	0.453																																																	0													99	101	100					10																	84745032		2203	4300	6503	SO:0001587	stop_gained	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1834C>T	10.37:g.84745032C>T	ENSP00000384796:p.Gln612*		A4D7U1|Q0PEH2|Q5VYH3	Nonsense_Mutation	SNP	pfscan_EG-like_dom	p.Q612*	ENST00000404547.1	37	c.1834	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864301	0.71949	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	.	.	.	5.95	5.95	0.96441	.	0.080584	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.0197	17.8962	0.88888	0.0:1.0:0.0:0.0	.	.	.	.	X	588;612;587;391;392;418;238;238	.	ENSP00000361214:Q588X	Q	+	1	0	NRG3	84735012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.274000	0.65569	2.827000	0.97445	0.650000	0.86243	CAA	NRG3	-	NULL	ENSG00000185737		0.453	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1		0	20	0	C	XM_166086		84745032	1			no_errors	ENST00000404547	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T	T	84745032	C	T	84745032	4	4	84	1	0	0	0	0	0	1	0	0	10688	711	25	3	2040	3	NRG3	10	84745032	Nonsense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	8871062	84745032	50789715	172	22367											
LRIT2	340745	genome.wustl.edu	37	chr10	85981684	85981684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggttgttcagctgtTgtcttccgttcctcctttct	1	18	10	12	1	3	0	1	0	2	0	6	0	6	0	4	2	1	5	4	2	0	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:85981684T>C	ENST00000372113.4	-	3	1650	c.1645A>G	c.(1645-1647)Aac>Gac	p.N549D	LRIT2_ENST00000538192.1_Missense_Mutation_p.N559D	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	549						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GTTCAGCTGTTGTCTTCCGTT	0.527																																																	0													149	116	127					10																	85981684		2203	4300	6503	SO:0001583	missense	0				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"Immunoglobulin superfamily / I-set domain containing"	23443	protein-coding gene	gene with protein product			"leucine rich repeat containing 22"	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.1645A>G	10.37:g.85981684T>C	ENSP00000361185:p.Asn549Asp		B7ZME6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N559D	ENST00000372113.4	37	c.1675	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	T	8.423	0.846942	0.17034	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.16743	2.32;2.32	3.83	-1.96	0.07525	.	3.793180	0.03767	U	0.259129	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24693	-1.0153	10	0.28530	T	0.3	.	0.967	0.01407	0.156:0.291:0.1604:0.3925	.	559;549	B7ZME6;A6NDA9	.;LRIT2_HUMAN	D	549;559	ENSP00000361185:N549D;ENSP00000438264:N559D	ENSP00000361185:N549D	N	-	1	0	LRIT2	85971664	0.981000	0.34729	0.000000	0.03702	0.008000	0.06430	1.549000	0.36212	-0.478000	0.06823	-0.250000	0.11733	AAC	LRIT2	-	NULL	ENSG00000204033		0.527	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	-	0	46	0	T	XM_291697		85981684	-1	tier1	-	no_errors	ENST00000538192	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	C	C	85981684	T	C	85981684	3	2	84	1	0	0	0	0	1	0	0	0	8983	1812	63	4	11	4	LRIT2	10	85981684	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	1236652	85981684	49553063	173	22368											
IFIT3	3437	genome.wustl.edu	37	chr10	91098633	91098633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaggcagccctggaatgctTacggcaagctgaagagttaa	12	7	13	9	2	0	2	0	1	0	1	0	4	0	3	1	3	4	5	1	3	5	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:91098633T>C	ENST00000371818.4	+	2	401	c.221T>C	c.(220-222)tTa>tCa	p.L74S	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.L74S|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	74					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTGGAATGCTTACGGCAAGCT	0.433																																																	0													101	99	100					10																	91098633		2203	4300	6503	SO:0001583	missense	0			U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"Tetratricopeptide (TTC) repeat domain containing"	5411	protein-coding gene	gene with protein product		604650	"interferon-induced protein with tetratricopeptide repeats 4"	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.221T>C	10.37:g.91098633T>C	ENSP00000360883:p.Leu74Ser		Q99634|Q9BSK7	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L74S	ENST00000371818.4	37	c.221	CCDS7402.1	10	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770617	0.49680	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.78481	-1.18;-1.18	4.58	4.58	0.56647	Tetratricopeptide-like helical (1);	0.071088	0.53938	D	0.000042	D	0.89846	0.6833	M	0.91717	3.235	0.32126	N	0.587418	D	0.89917	1.0	D	0.97110	1.0	D	0.92186	0.5755	10	0.87932	D	0	-5.0702	14.1511	0.65384	0.0:0.0:0.0:1.0	.	74	O14879	IFIT3_HUMAN	S	74	ENSP00000360883:L74S;ENSP00000360876:L74S	ENSP00000360876:L74S	L	+	2	0	IFIT3	91088613	0.716000	0.27956	0.441000	0.26858	0.362000	0.29581	5.570000	0.67398	2.286000	0.76751	0.454000	0.30748	TTA	IFIT3	-	smart_TPR_repeat	ENSG00000119917		0.433	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT3	HGNC	protein_coding	OTTHUMT00000049294.1	-	0	27	0	T	NM_001549		91098633	1	tier1	-	no_errors	ENST00000371811	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.452	C	C	91098633	T	C	91098633	3	2	84	1	0	0	0	0	1	0	0	0	7551	1764	61	4	236	4	IFIT3	10	91098633	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	5116949	91098633	44436114	174	22369											
PPP1R3C	5507	genome.wustl.edu	37	chr10	93389701	93389701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcatcgataagaggccaAgttctccattctcccccagc	11	10	6	14	1	3	1	1	0	2	1	6	2	3	1	4	1	1	1	4	1	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:93389701A>G	ENST00000238994.5	-	2	1021	c.937T>C	c.(937-939)Ttg>Ctg	p.L313L		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TAAGAGGCCAAGTTCTCCATT	0.478																																																	0													87	86	87					10																	93389701		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9293	protein-coding gene	gene with protein product	"Phosphatase 1, regulatory inhibitor subunit 5", "protein targeting to glycogen"	602999	"protein phosphatase 1, regulatory (inhibitor) subunit 3C"	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.937T>C	10.37:g.93389701A>G				Silent	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.L313	ENST00000238994.5	37	c.937	CCDS7416.1	10																																																																																			PPP1R3C	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000119938		0.478	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3C	HGNC	protein_coding	OTTHUMT00000049372.1	-	0	25	0	A	NM_005398		93389701	-1	tier1	-	no_errors	ENST00000238994	ensembl	human	known	74_37	silent	23.21	43	13	SNP	0.997	G	G	93389701	A	G	93389701	2	3	84	1	0	0	0	0	0	0	0	1	12415	69	3	4		4	PPP1R3C	10	93389701	Silent	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2291068	93389701	42145046	175	22370											
COX15	1355	genome.wustl.edu	37	chr10	101473230	101473230	+	IGR	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtaaagttgaataagaCagggccctatgaaatatcaa	20	8	8	5	0	1	3	1	2	0	1	1	3	1	3	1	1	0	2	1	1	10	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:101473230C>A	ENST00000016171.5	-	0	2356				COX15_ENST00000497381.1_5'Flank|CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.V370F			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)						cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		ttgaataagacagggccctat	0.363																																																	0													64	61	62					10																	101473230		2203	4300	6503	SO:0001628	intergenic_variant	0			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"Mitochondrial respiratory chain complex assembly factors"	2263	protein-coding gene	gene with protein product		603646	"COX15 (yeast) homolog, cytochrome c oxidase assembly protein", "COX15 homolog, cytochrome c oxidase assembly protein (yeast)"			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893		10.37:g.101473230C>A			A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom	p.V370F	ENST00000016171.5	37	c.1108	CCDS7482.1	10	.	.	.	.	.	.	.	.	.	.	C	9.906	1.208178	0.22205	.	.	ENSG00000014919	ENST00000370483	.	.	.	1.84	-0.163	0.13363	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	0.999999	P	0.47484	0.896	B	0.34346	0.18	T	0.15435	-1.0437	7	0.72032	D	0.01	.	4.3746	0.11263	0.0:0.6365:0.0:0.3635	.	370	Q7KZN9-2	.	F	370	.	ENSP00000359514:V370F	V	-	1	0	COX15	101463220	0.000000	0.05858	0.025000	0.17156	0.415000	0.31203	-1.238000	0.02919	-0.053000	0.13289	0.561000	0.74099	GTC	COX15	-	NULL	ENSG00000014919		0.363	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX15	HGNC	protein_coding	OTTHUMT00000049818.1		0	27	0	C	NP_510870		101473230	-1			no_errors	ENST00000370483	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.035	A	A	101473230	C	A	101473230	1	1	84	0	1	0	0	0	0	0	0	0	3771	478	17	3		3	COX15	10	101473230	IGR	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	8083529	101473230	34061517	176	22371											
CNNM2	54805	genome.wustl.edu	37	chr10	104814209	104814209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcctggccatgcaccGtttcctagcaacaggcaagt	8	9	9	15	1	0	0	0	0	0	0	3	0	3	0	5	2	3	5	5	2	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr10:104814209G>A	ENST00000369878.4	+	3	2077	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	CNNM2_ENST00000433628.2_Missense_Mutation_p.R630H	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	630					magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCCATGCACCGTTTCCTAGCA	0.512											OREG0020489	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	70	71					10																	104814209		2019	4189	6208	SO:0001583	missense	0			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"cyclin M2"	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1889G>A	10.37:g.104814209G>A	ENSP00000358894:p.Arg630His	1384	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.R630H	ENST00000369878.4	37	c.1889	CCDS44474.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.011713|5.011713	0.93346|0.93346	.|.	.|.	ENSG00000148842|ENSG00000148842	ENST00000457502;ENST00000433628|ENST00000369878;ENST00000345419	.|T	.|0.75154	.|-0.91	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	.|D	.|0.88108	.|0.6348	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.989	.|D;P	.|0.72982	.|0.979;0.762	.|D	.|0.88018	.|0.2767	.|8	.|.	.|.	.|.	.|-27.8347	19.967|19.967	0.97274|0.97274	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|630;630	.|Q9H8M5-2;Q9H8M5	.|.;CNNM2_HUMAN	.|H	-1|630	.|ENSP00000358894:R630H	.|.	.|R	+|+	.|2	.|0	CNNM2|CNNM2	104804199|104804199	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.864000|9.864000	0.99589|0.99589	2.714000|2.714000	0.92807|0.92807	0.655000|0.655000	0.94253|0.94253	.|CGT	CNNM2	-	superfamily_cNMP-bd-like	ENSG00000148842		0.512	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	-	0	37	0	G	NM_017649		104814209	1	tier1	-	no_errors	ENST00000369878	ensembl	human	known	74_37	missense	22.22	42	12	SNP	1.000	A	A	104814209	G	A	104814209	3	1	84	1	0	0	0	0	1	0	0	0	3620	1145	40	1	1941	1	CNNM2	10	104814209	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3340979	104814209	30720538	177	22372											
CHRNA10	57053	genome.wustl.edu	37	chr11	3690541	3690541	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatctgtccactcctgccGtatccacagatacagggtca	9	9	9	14	1	2	1	1	0	1	1	5	1	5	1	4	2	2	2	4	2	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:3690541G>T	ENST00000250699.2	-	3	318	c.247C>A	c.(247-249)Cgg>Agg	p.R83R	CHRNA10_ENST00000534359.1_5'UTR|CHRNA10_ENST00000493827.2_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	83					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)	p.R83W(1)		breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	CACTCCTGCCGTATCCACAGA	0.567																																					Melanoma(153;17 1869 2949 7120 36888)												1	Substitution - Missense(1)	lung(1)											134	103	113					11																	3690541		2201	4298	6499	SO:0001819	synonymous_variant	0			AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	13800	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 10 (neuronal)"	606372	"cholinergic receptor, nicotinic, alpha polypeptide 10"				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.247C>A	11.37:g.3690541G>T				Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R83	ENST00000250699.2	37	c.247	CCDS7745.1	11																																																																																			CHRNA10	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000129749		0.567	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA10	HGNC	protein_coding	OTTHUMT00000032763.2		0	33	0	G			3690541	-1			no_errors	ENST00000250699	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	T	T	3690541	G	T	3690541	2	4	84	1	0	0	0	0	0	0	0	1	3389	1144	40	2		2	CHRNA10	11	3690541	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09		3690541	131315975	178	22373											
STIM1	6786	genome.wustl.edu	37	chr11	4091262	4091262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctctggcagtgactcGccataatcacctcaaggact	9	9	7	16	1	3	1	2	1	1	0	5	2	3	2	4	2	0	1	4	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:4091262G>A	ENST00000300737.4	+	6	1189	c.620G>A	c.(619-621)cGc>cAc	p.R207H	STIM1_ENST00000527651.1_Missense_Mutation_p.R207H|STIM1_ENST00000533977.1_Missense_Mutation_p.R34H|STIM1_ENST00000527484.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	207					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAGTGACTCGCCATAATCAC	0.537																																																	0													195	170	179					11																	4091262		2201	4298	6499	SO:0001583	missense	0			BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"Sterile alpha motif (SAM) domain containing"	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.620G>A	11.37:g.4091262G>A	ENSP00000300737:p.Arg207His		E9PQJ4|Q8N382	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R207H	ENST00000300737.4	37	c.620	CCDS7749.1	11	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894904	0.91962	.	.	ENSG00000167323	ENST00000300737;ENST00000527651;ENST00000532919;ENST00000533977	T;T;T	0.78126	-0.19;-1.15;-0.18	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77011	0.4068	N	0.08118	0	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.64410	0.818;0.925	T	0.79247	-0.1882	10	0.40728	T	0.16	-6.0432	18.9634	0.92685	0.0:0.0:1.0:0.0	.	207;207	E9PQJ4;Q13586	.;STIM1_HUMAN	H	207;207;133;34	ENSP00000300737:R207H;ENSP00000436208:R207H;ENSP00000434767:R34H	ENSP00000300737:R207H	R	+	2	0	STIM1	4047838	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.320000	0.79064	2.825000	0.97269	0.655000	0.94253	CGC	STIM1	-	NULL	ENSG00000167323		0.537	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIM1	HGNC	protein_coding	OTTHUMT00000257196.1		0	100	0	G	NM_003156		4091262	1			no_errors	ENST00000300737	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	4091262	G	A	4091262	3	1	84	1	0	0	0	0	1	0	0	0	15330	1087	38	1	642	1	STIM1	11	4091262	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	400721	4091262	130915254	179	22374											
OR51B2	79345	genome.wustl.edu	37	chr11	5345083	5345083	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggatggatacaaaaccccTtagaaacactcccactccta	15	7	5	14	0	0	1	0	0	0	1	2	3	2	3	4	2	3	0	4	2	6	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:5345083T>G	ENST00000328813.2	-	1	499	c.445A>C	c.(445-447)Agg>Cgg	p.R149R	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAAAACCCCTTAGAAACACT	0.398																																																	0													109	105	107					11																	5345083		2201	4297	6498	SO:0001819	synonymous_variant	0			AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"GPCR / Class A : Olfactory receptors"	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.445A>C	11.37:g.5345083T>G			Q96RD4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R149	ENST00000328813.2	37	c.445	CCDS31377.1	11																																																																																			OR51B2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184881		0.398	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B2	HGNC	protein_coding	OTTHUMT00000142983.1	-	0	45	0	T	NM_033180		5345083	-1	tier1	-	no_errors	ENST00000328813	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.836	G	G	5345083	T	G	5345083	2	3	84	1	0	0	0	0	0	0	0	1	11128	1608	56	4		4	OR51B2	11	5345083	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	1253821	5345083	129661433	180	22375											
OR56B1	387748	genome.wustl.edu	37	chr11	5758323	5758323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgtgctctaaccttgggGtcacaagcctggcttgtgat	6	12	12	11	0	2	1	1	1	1	0	2	1	2	1	3	3	3	2	3	3	2	3	rs375273446		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:5758323G>T	ENST00000317121.3	+	1	643	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TAACCTTGGGGTCACAAGCCT	0.478																																																	0													89	79	83					11																	5758323		2201	4297	6498	SO:0001583	missense	0			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"GPCR / Class A : Olfactory receptors"	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.577G>T	11.37:g.5758323G>T	ENSP00000322939:p.Val193Phe		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V193F	ENST00000317121.3	37	c.577	CCDS31395.1	11	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632820	0.67015	.	.	ENSG00000181023	ENST00000317121	T	0.00237	8.47	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001166	T	0.00724	0.0024	M	0.91090	3.175	0.32870	D	0.509119	D	0.67145	0.996	D	0.74348	0.983	T	0.33240	-0.9876	10	0.87932	D	0	-11.2005	13.3832	0.60780	0.0:0.1577:0.8423:0.0	.	193	Q8NGI3	O56B1_HUMAN	F	193	ENSP00000322939:V193F	ENSP00000322939:V193F	V	+	1	0	OR56B1	5714899	0.131000	0.22433	0.995000	0.50966	0.996000	0.88848	0.441000	0.21611	2.801000	0.96364	0.655000	0.94253	GTC	OR56B1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181023		0.478	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1		0	17	0	G	NM_001005180		5758323	1			no_errors	ENST00000317121	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.775	T	T	5758323	G	T	5758323	3	4	84	1	0	0	0	0	1	0	0	0	11176	1261	44	3	579	3	OR56B1	11	5758323	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	413240	5758323	129248193	181	22376											
TPP1	8642	genome.wustl.edu	37	chr11	6640117	6640117	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcctcagggtccgcaCggcccagggacacccagcct	6	6	11	18	2	2	0	1	0	1	0	4	1	4	1	5	3	1	2	5	3	0	1	rs549309216		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:6640117C>T	ENST00000299441.3	-	0	10763				TPP1_ENST00000528657.1_3'UTR|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000533371.1_De_novo_Start_OutOfFrame|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000299427.6_Missense_Mutation_p.R40H|RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1						branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGTCCGCACGGCCCAGGGA	0.587													C|||	1	0.000199681	0	0	5008	,	,		20661	0.001		0	False		,,,				2504	0																0													60	60	60					11																	6640117		2201	4296	6497	SO:0001628	intergenic_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398		11.37:g.6640117C>T			O15098	Missense_Mutation	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.R40H	ENST00000299441.3	37	c.119	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178886	0.78564	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	T;T	0.72167	-0.63;-0.63	5.64	4.72	0.59763	Proteinase inhibitor, propeptide (1);Peptidase S53, propeptide (2);	0.057570	0.64402	D	0.000001	T	0.74741	0.3756	M	0.77712	2.385	0.80722	D	1	D;P	0.58970	0.984;0.649	P;B	0.46758	0.526;0.043	T	0.77659	-0.2505	10	0.49607	T	0.09	-18.6436	13.6352	0.62219	0.0:0.8447:0.1553:0.0	.	40;40	B4DEQ3;O14773	.;TPP1_HUMAN	H	40	ENSP00000299427:R40H;ENSP00000398136:R40H	ENSP00000299427:R40H	R	-	2	0	TPP1	6596693	0.402000	0.25311	0.984000	0.44739	0.991000	0.79684	0.912000	0.28597	1.360000	0.45960	0.462000	0.41574	CGT	TPP1	-	pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	ENSG00000166340		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257258.1		0	34	0	C	NM_003737		6640117	-1			no_errors	ENST00000299427	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	6640117	C	T	6640117	1	4	84	0	1	0	0	0	0	0	0	0	16459	536	19	1		1	TPP1	11	6640117	IGR	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	881794	6640117	128366399	182	22377											
C11orf49	79096	genome.wustl.edu	37	chr11	47178706	47178706	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggggccggcacgctggAgggcgtggaggcgtcgctgt	3	5	23	10	6	0	0	0	0	0	0	1	2	0	2	1	8	0	3	1	8	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:47178706A>T	ENST00000278460.7	+	6	643	c.584A>T	c.(583-585)gAg>gTg	p.E195V	C11orf49_ENST00000536126.1_Missense_Mutation_p.E98V|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378618.2_Missense_Mutation_p.E195V|C11orf49_ENST00000395460.2_Missense_Mutation_p.E195V|C11orf49_ENST00000378615.3_Missense_Mutation_p.E195V|C11orf49_ENST00000543718.1_Missense_Mutation_p.E111V	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	195						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						GGCACGCTGGAGGGCGTGGAG	0.652																																																	0													56	52	53					11																	47178706		2201	4298	6499	SO:0001583	missense	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.584A>T	11.37:g.47178706A>T	ENSP00000278460:p.Glu195Val		D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Missense_Mutation	SNP	NULL	p.E195V	ENST00000278460.7	37	c.584	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	A	23.5	4.418709	0.83559	.	.	ENSG00000149179	ENST00000536126;ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000543718;ENST00000526827	T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.2	5.2	0.72013	.	0.206597	0.49916	D	0.000130	T	0.34106	0.0886	M	0.63843	1.955	0.45502	D	0.998469	D;D;P;B;P	0.53885	0.963;0.963;0.874;0.226;0.693	P;P;P;B;B	0.50754	0.649;0.649;0.466;0.246;0.431	T	0.12319	-1.0552	10	0.72032	D	0.01	-11.4594	15.2382	0.73447	1.0:0.0:0.0:0.0	.	111;111;195;195;195	F5H6E0;B4DEG1;E9PAX7;Q9H6J7-2;Q9H6J7	.;.;.;.;CK049_HUMAN	V	98;195;195;195;195;111;121	ENSP00000438207:E98V;ENSP00000278460:E195V;ENSP00000367881:E195V;ENSP00000378844:E195V;ENSP00000367878:E195V;ENSP00000437689:E111V;ENSP00000433707:E121V	ENSP00000278460:E195V	E	+	2	0	C11orf49	47135282	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.209000	0.89751	2.194000	0.70268	0.533000	0.62120	GAG	C11orf49	-	NULL	ENSG00000149179		0.652	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	-	0	69	0	A	NM_024113		47178706	1	tier1	-	no_errors	ENST00000378615	ensembl	human	known	74_37	missense	53.52	33	38	SNP	1.000	T	T	47178706	A	T	47178706	3	4	84	1	0	0	0	0	1	0	0	0	1650	304	11	5	606	5	C11orf49	11	47178706	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	40538589	47178706	87827810	183	22378											
OR5D13	390142	genome.wustl.edu	37	chr11	55541046	55541046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtcactgtagtggggaacTtgggcatgataataatcatc	12	11	11	7	0	2	1	2	1	0	0	3	2	2	2	0	3	1	2	0	3	4	4	rs112091941	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:55541046T>G	ENST00000361760.1	+	1	133	c.133T>G	c.(133-135)Ttg>Gtg	p.L45V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				AGTGGGGAACTTGGGCATGAT	0.398																																																	0													162	151	155					11																	55541046		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.133T>G	11.37:g.55541046T>G	ENSP00000354800:p.Leu45Val		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L45V	ENST00000361760.1	37	c.133	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	T	3.763	-0.049291	0.07407	.	.	ENSG00000198877	ENST00000361760	T	0.00428	7.44	3.52	-7.05	0.01573	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27464	U	0.019251	T	0.00356	0.0011	M	0.64170	1.965	0.09310	N	1	B	0.27679	0.185	B	0.29942	0.109	T	0.39860	-0.9593	10	0.42905	T	0.14	-6.8477	11.2759	0.49165	0.0969:0.6551:0.0978:0.1502	.	45	Q8NGL4	OR5DD_HUMAN	V	45	ENSP00000354800:L45V	ENSP00000354800:L45V	L	+	1	2	OR5D13	55297622	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-10.618000	0.00005	-3.857000	0.00098	-1.484000	0.00983	TTG	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198877		0.398	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0	47	0	T	NM_001001967		55541046	1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	27.27	40	15	SNP	0.000	G	G	55541046	T	G	55541046	3	3	84	1	0	0	0	0	1	0	0	0	11193	1606	56	4	135	4	OR5D13	11	55541046	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	8362340	55541046	79465470	184	22379											
OR5L2	26338	genome.wustl.edu	37	chr11	55594728	55594728	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcaccactgtggctgagTtcattctccttggactatca	8	13	8	12	0	3	1	2	1	1	0	4	2	3	2	2	2	1	3	2	2	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:55594728T>G	ENST00000378397.1	+	1	34	c.34T>G	c.(34-36)Ttc>Gtc	p.F12V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTGGCTGAGTTCATTCTCCT	0.428										HNSCC(27;0.073)																																							0													206	194	198					11																	55594728		2200	4294	6494	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.34T>G	11.37:g.55594728T>G	ENSP00000367650:p.Phe12Val		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F12V	ENST00000378397.1	37	c.34	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	17.56	3.421111	0.62622	.	.	ENSG00000205030	ENST00000378397	T	0.04551	3.6	5.31	5.31	0.75309	.	0.000000	0.51477	D	0.000094	T	0.22975	0.0555	M	0.81341	2.54	0.38337	D	0.943978	D	0.89917	1.0	D	0.87578	0.998	T	0.03008	-1.1083	10	0.87932	D	0	-68.4133	14.5472	0.68041	0.0:0.0:0.0:1.0	.	12	Q8NGL0	OR5L2_HUMAN	V	12	ENSP00000367650:F12V	ENSP00000367650:F12V	F	+	1	0	OR5L2	55351304	0.996000	0.38824	0.939000	0.37840	0.565000	0.35776	2.911000	0.48774	2.173000	0.68751	0.509000	0.49947	TTC	OR5L2	-	NULL	ENSG00000205030		0.428	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	45	0	T	NM_001004739		55594728	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	39.68	38	25	SNP	0.960	G	G	55594728	T	G	55594728	3	3	84	1	0	0	0	0	1	0	0	0	11210	1725	60	4	36	4	OR5L2	11	55594728	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	53682	55594728	79411788	185	22380											
OR5D16	390144	genome.wustl.edu	37	chr11	55606285	55606285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcactctcttgggcttcTcagattacctggaactgcaa	9	13	7	12	0	3	1	2	0	2	1	5	2	3	2	1	2	3	2	1	2	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:55606285T>C	ENST00000378396.1	+	1	58	c.58T>C	c.(58-60)Tca>Cca	p.S20P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTGGGCTTCTCAGATTACCT	0.413																																																	0													102	93	96					11																	55606285		2201	4296	6497	SO:0001583	missense	0			AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"GPCR / Class A : Olfactory receptors"	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.58T>C	11.37:g.55606285T>C	ENSP00000367649:p.Ser20Pro		Q6IF65|Q96RB4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S20P	ENST00000378396.1	37	c.58	CCDS31512.1	11	.	.	.	.	.	.	.	.	.	.	.	13.79	2.341466	0.41498	.	.	ENSG00000205029	ENST00000378396	T	0.00441	7.41	4.15	1.48	0.22813	.	.	.	.	.	T	0.00468	0.0015	L	0.49699	1.58	0.26901	N	0.967109	P	0.36465	0.554	P	0.46049	0.502	T	0.42616	-0.9441	9	0.66056	D	0.02	-9.3149	6.1863	0.20500	0.1594:0.0:0.1656:0.675	.	20	Q8NGK9	OR5DG_HUMAN	P	20	ENSP00000367649:S20P	ENSP00000367649:S20P	S	+	1	0	OR5D16	55362861	0.000000	0.05858	0.734000	0.30879	0.895000	0.52256	-0.493000	0.06459	0.581000	0.29539	0.433000	0.28618	TCA	OR5D16	-	NULL	ENSG00000205029		0.413	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D16	HGNC	protein_coding	OTTHUMT00000334506.1	-	0	60	0	T	NM_001005496		55606285	1	tier1	-	no_errors	ENST00000378396	ensembl	human	known	74_37	missense	31.15	42	19	SNP	0.998	C	C	55606285	T	C	55606285	3	2	84	1	0	0	0	0	1	0	0	0	11195	1551	54	4	60	4	OR5D16	11	55606285	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	11557	55606285	79400231	186	22381											
OR8H3	390152	genome.wustl.edu	37	chr11	55890618	55890618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctatggaactatgatttTtacttacttaaagccaagaa	14	15	5	7	0	1	2	0	1	1	1	1	3	1	3	1	1	4	0	1	1	9	8			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:55890618T>C	ENST00000313472.3	+	1	770	c.770T>C	c.(769-771)tTt>tCt	p.F257S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTATGATTTTTACTTACTTA	0.383																																																	0													103	102	102					11																	55890618		2201	4296	6497	SO:0001583	missense	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.770T>C	11.37:g.55890618T>C	ENSP00000323928:p.Phe257Ser		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F257S	ENST00000313472.3	37	c.770	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635342	0.29068	.	.	ENSG00000181761	ENST00000313472	T	0.00274	8.35	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.00328	0.0010	M	0.64170	1.965	0.23693	N	0.99709	P	0.44195	0.828	P	0.48524	0.58	T	0.45323	-0.9269	10	0.59425	D	0.04	.	10.0954	0.42471	0.0:0.0:0.1682:0.8318	.	257	Q8N146	OR8H3_HUMAN	S	257	ENSP00000323928:F257S	ENSP00000323928:F257S	F	+	2	0	OR8H3	55647194	0.004000	0.15560	0.849000	0.33467	0.123000	0.20343	0.809000	0.27168	1.415000	0.47037	0.145000	0.16022	TTT	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181761		0.383	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	33	0	T	NM_001005201		55890618	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	25.00	45	15	SNP	0.482	C	C	55890618	T	C	55890618	3	2	84	1	0	0	0	0	1	0	0	0	11278	1841	64	4	772	4	OR8H3	11	55890618	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	284333	55890618	79115898	187	22382											
GLYATL2	219970	genome.wustl.edu	37	chr11	58602155	58602155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcacaatccaagagacaAgctggccctctggacccagc	12	5	8	16	0	2	1	1	0	1	1	3	3	3	2	4	2	2	1	4	2	3	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:58602155A>G	ENST00000287275.1	-	6	1022	c.632T>C	c.(631-633)cTt>cCt	p.L211P	GLYATL2_ENST00000532258.1_Missense_Mutation_p.L211P|GLYATL2_ENST00000533636.1_5'Flank	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	211						endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CCAAGAGACAAGCTGGCCCTC	0.458																																																	0													71	74	73					11																	58602155		2136	4264	6400	SO:0001583	missense	0			AF426250	CCDS41649.1	11q12.1	2008-02-05				ENSG00000156689			24178	protein-coding gene	gene with protein product		614762				12477932	Standard	NM_145016		Approved	BXMAS2-10, MGC24009	uc001nnd.4	Q8WU03		ENST00000287275.1:c.632T>C	11.37:g.58602155A>G	ENSP00000287275:p.Leu211Pro		A5LGC7|Q86WC3|Q96AT2	Missense_Mutation	SNP	pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	p.L211P	ENST00000287275.1	37	c.632	CCDS41649.1	11	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.623132	0.00820	.	.	ENSG00000156689	ENST00000287275;ENST00000532258	T;T	0.20069	2.1;2.1	4.34	2.41	0.29592	Acyl-CoA N-acyltransferase (2);Glycine N-acyltransferase, C-terminal (1);	0.085587	0.47455	N	0.000222	T	0.05364	0.0142	N	0.00864	-1.135	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.33777	-0.9855	10	0.27785	T	0.31	.	4.956	0.14041	0.1167:0.0:0.6778:0.2056	.	211	Q8WU03	GLYL2_HUMAN	P	211	ENSP00000287275:L211P;ENSP00000434277:L211P	ENSP00000287275:L211P	L	-	2	0	GLYATL2	58358731	0.049000	0.20398	0.002000	0.10522	0.080000	0.17528	0.546000	0.23284	0.273000	0.22049	-0.516000	0.04426	CTT	GLYATL2	-	pfam_Glycine_N-acyltransferase_C,pfam_FR47,superfamily_Acyl_CoA_acyltransferase	ENSG00000156689		0.458	GLYATL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLYATL2	HGNC	protein_coding	OTTHUMT00000394599.1	-	0	52	0	A	NM_145016		58602155	-1	tier1	-	no_errors	ENST00000287275	ensembl	human	known	74_37	missense	25.00	45	15	SNP	0.011	G	G	58602155	A	G	58602155	3	3	84	1	0	0	0	0	1	0	0	0	6507	72	3	4	256	4	GLYATL2	11	58602155	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2711537	58602155	76404361	188	22383											
FLRT1	28992	genome.wustl.edu	37	chr11	63884398	63884398	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgctgcatgccttcaaggGcctcaacagcctgcggcgcc	6	6	11	18	3	2	0	2	0	0	0	2	0	2	0	5	2	5	2	5	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:63884398G>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.G220V	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						GCCTTCAAGGGCCTCAACAGC	0.652																																																	0													38	34	35					11																	63884398		2201	4297	6498	SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34312C>A	11.37:g.63884398G>T			Q9UH96	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.G220V	ENST00000255681.6	37	c.659	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079845	0.55753	.	.	ENSG00000126500	ENST00000246841	T	0.60672	0.17	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.81854	-0.0741	10	0.62326	D	0.03	-37.5847	18.2988	0.90157	0.0:0.0:1.0:0.0	.	192	Q9NZU1	FLRT1_HUMAN	V	220	ENSP00000246841:G220V	ENSP00000246841:G220V	G	+	2	0	FLRT1	63640974	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.823000	0.48081	2.615000	0.88500	0.555000	0.69702	GGC	FLRT1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000126500		0.652	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	HGNC	protein_coding	OTTHUMT00000396570.1		0	73	0	G	NM_014067		63884398	1			no_errors	ENST00000246841	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	63884398	G	T	63884398	1	4	84	0	1	0	0	0	0	0	0	0	5960	1203	42	3		3	FLRT1	11	63884398	Intron	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	5282243	63884398	71122118	189	22384											
MAP4K2	5871	genome.wustl.edu	37	chr11	64564335	64564335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatccgcagggggcagcCattgaagaccttggagaagc	10	6	16	9	1	0	3	0	1	0	2	1	5	1	4	3	4	2	2	3	4	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:64564335C>A	ENST00000294066.2	-	21	1529	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	MAP4K2_ENST00000377350.3_Missense_Mutation_p.G472C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	480					activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGGGCAGCCATTGAAGACC	0.657																																																	0													41	44	43					11																	64564335		2201	4297	6498	SO:0001583	missense	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1438G>T	11.37:g.64564335C>A	ENSP00000294066:p.Gly480Cys		Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.G480C	ENST00000294066.2	37	c.1438	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226511	0.79576	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.76968	-1.03;-1.06	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	D	0.86297	0.5899	M	0.69823	2.125	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87774	0.2607	10	0.87932	D	0	.	13.1403	0.59430	0.0:1.0:0.0:0.0	.	472;480	Q86VU3;Q12851	.;M4K2_HUMAN	C	480;472	ENSP00000294066:G480C;ENSP00000366567:G472C	ENSP00000294066:G480C	G	-	1	0	MAP4K2	64320911	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.614000	0.74197	2.247000	0.74100	0.558000	0.71614	GGC	MAP4K2	-	NULL	ENSG00000168067		0.657	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	-	0	47	0	C	NM_004579		64564335	-1	tier1	-	no_errors	ENST00000294066	ensembl	human	known	74_37	missense	53.75	37	43	SNP	1.000	A	A	64564335	C	A	64564335	3	1	84	1	0	0	0	0	1	0	0	0	9298	594	21	3	1072	3	MAP4K2	11	64564335	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	679937	64564335	70442181	190	22385											
CDC42BPG	55561	genome.wustl.edu	37	chr11	64603053	64603053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgaggcccaccctcaGggggtcccatcccgttggtc	4	8	11	18	1	1	1	1	1	0	0	5	1	4	1	6	4	0	1	6	4	0	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:64603053G>A	ENST00000342711.5	-	15	1798	c.1799C>T	c.(1798-1800)cCt>cTt	p.P600L		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCCACCCTCAGGGGGTCCCAT	0.672																																																	0													50	58	55					11																	64603053		2197	4292	6489	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1799C>T	11.37:g.64603053G>A	ENSP00000345133:p.Pro600Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P600L	ENST00000342711.5	37	c.1799	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	8.446	0.852049	0.17034	.	.	ENSG00000171219	ENST00000342711	T	0.20881	2.04	4.11	2.13	0.27403	.	0.446179	0.18672	N	0.134405	T	0.11537	0.0281	L	0.34521	1.04	0.09310	N	1	B	0.32245	0.361	B	0.28139	0.086	T	0.24657	-1.0154	10	0.12430	T	0.62	.	6.235	0.20758	0.1126:0.1939:0.6935:0.0	.	600	Q6DT37	MRCKG_HUMAN	L	600	ENSP00000345133:P600L	ENSP00000345133:P600L	P	-	2	0	CDC42BPG	64359629	0.678000	0.27586	0.013000	0.15412	0.032000	0.12392	2.146000	0.42216	0.824000	0.34613	0.462000	0.41574	CCT	CDC42BPG	-	NULL	ENSG00000171219		0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0	9	0	G	XM_290516		64603053	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.004	A	A	64603053	G	A	64603053	3	1	84	1	0	0	0	0	1	0	0	0	3081	1000	35	3	2948	3	CDC42BPG	11	64603053	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	38718	64603053	70403463	191	22386											
SUV420H1	51111	genome.wustl.edu	37	chr11	67939073	67939073	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttccttgtggagtacaTgacactgaagtcgttttctc	7	17	9	8	1	1	2	0	2	1	0	4	3	2	3	1	1	1	3	1	1	2	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:67939073T>A	ENST00000304363.4	-	7	1110	c.757A>T	c.(757-759)Atg>Ttg	p.M253L	SUV420H1_ENST00000402789.1_Missense_Mutation_p.M253L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.M253L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.M253L|SUV420H1_ENST00000402185.2_Missense_Mutation_p.M230L	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	253	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTGGAGTACATGACACTGAAG	0.438																																																	0													134	132	133					11																	67939073		2200	4294	6494	SO:0001583	missense	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.757A>T	11.37:g.67939073T>A	ENSP00000305899:p.Met253Leu		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.M253L	ENST00000304363.4	37	c.757	CCDS31623.1	11	.	.	.	.	.	.	.	.	.	.	T	32	5.190871	0.94923	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185	D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98	5.73	5.73	0.89815	SET domain (2);	0.073897	0.85682	D	0.000000	T	0.78710	0.4326	L	0.27975	0.815	0.80722	D	1	B;B;B;P	0.39809	0.381;0.277;0.123;0.689	B;B;B;B	0.38056	0.158;0.264;0.038;0.175	T	0.80603	-0.1309	10	0.51188	T	0.08	-32.4385	16.3197	0.82945	0.0:0.0:0.0:1.0	.	230;253;253;253	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	L	253;253;253;253;230	ENSP00000305899:M253L;ENSP00000385965:M253L;ENSP00000385640:M253L;ENSP00000385005:M253L;ENSP00000384724:M230L	ENSP00000305899:M253L	M	-	1	0	SUV420H1	67695649	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.302000	0.77476	0.533000	0.62120	ATG	SUV420H1	-	pfam_SET_dom,smart_SET_dom	ENSG00000110066		0.438	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	-	0	58	0	T	NM_017635		67939073	-1	tier1	-	no_errors	ENST00000304363	ensembl	human	known	74_37	missense	64.20	29	52	SNP	1.000	A	A	67939073	T	A	67939073	3	1	84	1	0	0	0	0	1	0	0	0	15461	1464	51	5	1928	5	SUV420H1	11	67939073	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	3336020	67939073	67067443	192	22387											
FOLR1	2348	genome.wustl.edu	37	chr11	71907014	71907014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacacccactgttctgtgCaatgaaatctggactcactc	10	10	6	15	0	3	1	1	1	2	0	4	2	3	2	2	1	1	2	2	1	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:71907014C>T	ENST00000393679.1	+	5	1003	c.567C>T	c.(565-567)tgC>tgT	p.C189C	FOLR1_ENST00000312293.4_Silent_p.C189C|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Silent_p.C189C|FOLR1_ENST00000393676.3_Silent_p.C189C			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	189					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	CTGTTCTGTGCAATGAAATCT	0.552																																																	0													101	95	97					11																	71907014		2200	4293	6493	SO:0001819	synonymous_variant	0			J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.567C>T	11.37:g.71907014C>T			Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Silent	SNP	pfam_Folate_rcpt-like	p.C189	ENST00000393679.1	37	c.567	CCDS8211.1	11																																																																																			FOLR1	-	pfam_Folate_rcpt-like	ENSG00000110195		0.552	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FOLR1	HGNC	protein_coding	OTTHUMT00000396773.1	-	0	46	0	C	NM_016725		71907014	1	tier1	-	no_errors	ENST00000312293	ensembl	human	known	74_37	silent	7.14	65	5	SNP	0.995	T	T	71907014	C	T	71907014	2	4	84	1	0	0	0	0	0	0	0	1	6003	718	25	3		3	FOLR1	11	71907014	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	3967941	71907014	63099502	193	22388											
PRCP	5547	genome.wustl.edu	37	chr11	82595914	82595914	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taatacatatgtgcaactgcCcagcagcaagggcctgcagg	12	7	11	11	0	0	0	0	0	0	0	0	0	0	0	2	2	7	4	2	2	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:82595914C>T	ENST00000313010.3	-	1	363				PRCP_ENST00000393399.2_Missense_Mutation_p.G61E|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)						angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						gtgcaactgcccagcagcaag	0.378																																																	0													99	98	98					11																	82595914		1838	4105	5943	SO:0001627	intron_variant	0			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.168+15362G>A	11.37:g.82595914C>T			A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.G61E	ENST00000313010.3	37	c.182	CCDS8262.1	11	.	.	.	.	.	.	.	.	.	.	C	6.151	0.395984	0.11638	.	.	ENSG00000137509	ENST00000393399	T	0.13657	2.57	3.17	0.136	0.14780	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	D	0.65010	0.931	T	0.18618	-1.0331	8	.	.	.	.	2.4453	0.04505	0.2364:0.486:0.0:0.2776	.	61	A8MU24	.	E	61	ENSP00000377055:G61E	.	G	-	2	0	PRCP	82273562	0.003000	0.15002	0.000000	0.03702	0.033000	0.12548	0.546000	0.23284	0.029000	0.15352	0.561000	0.74099	GGG	PRCP	-	NULL	ENSG00000137509		0.378	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	-	0	19	0	C	NM_005040		82595914	-1	tier1	-	no_errors	ENST00000393399	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.000	T	T	82595914	C	T	82595914	1	4	84	0	1	0	0	0	0	0	0	0	12491	623	22	3		3	PRCP	11	82595914	Intron	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	10688900	82595914	52410602	194	22389											
FAT3	120114	genome.wustl.edu	37	chr11	92577768	92577768	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggagaagaactgctcaggGctggactgtcaggaacagca	12	7	14	8	0	2	2	2	0	0	2	2	5	2	4	0	4	4	3	0	4	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:92577768G>C	ENST00000298047.6	+	18	11252	c.11235G>C	c.(11233-11235)ggG>ggC	p.G3745G	FAT3_ENST00000533797.1_Silent_p.G80G|FAT3_ENST00000409404.2_Silent_p.G3745G|FAT3_ENST00000525166.1_Silent_p.G3595G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3745					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTGCTCAGGGCTGGACTGTC	0.532										TCGA Ovarian(4;0.039)																																							0													94	94	94					11																	92577768		2129	4244	6373	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11235G>C	11.37:g.92577768G>C			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G3745	ENST00000298047.6	37	c.11235		11																																																																																			FAT3	-	NULL	ENSG00000165323		0.532	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	27	0	G	NM_001008781		92577768	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	36.67	18	11	SNP	0.875	C	C	92577768	G	C	92577768	2	2	84	1	0	0	0	0	0	0	0	1	5713	1190	42	5		5	FAT3	11	92577768	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9981854	92577768	42428748	195	22390											
KIAA1826	84437	genome.wustl.edu	37	chr11	105880425	105880425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacttctctgtttctatgTcctgtggttgaagcatggat	7	18	9	7	0	2	1	0	1	2	0	4	2	3	2	1	2	2	3	1	2	3	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:105880425T>C	ENST00000301919.4	-	3	2290	c.875A>G	c.(874-876)gAc>gGc	p.D292G	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	292						nucleus (GO:0005634)											TGTTTCTATGTCCTGTGGTTG	0.393																																																	0													168	154	159					11																	105880425		2201	4299	6500	SO:0001583	missense	0			AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"KIAA1826"	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.875A>G	11.37:g.105880425T>C	ENSP00000304713:p.Asp292Gly		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	NULL	p.D292G	ENST00000301919.4	37	c.875	CCDS31663.1	11	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571480	0.65765	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.65417	0.2689	L	0.29908	0.895	0.58432	D	0.99999	D	0.57571	0.98	D	0.68192	0.956	T	0.69371	-0.5163	9	0.72032	D	0.01	-20.9965	15.3857	0.74699	0.0:0.0:0.0:1.0	.	292	Q8NCY6	K1826_HUMAN	G	292	.	ENSP00000304713:D292G	D	-	2	0	KIAA1826	105385635	1.000000	0.71417	0.999000	0.59377	0.613000	0.37349	7.008000	0.76341	2.091000	0.63221	0.402000	0.26972	GAC	MSANTD4	-	NULL	ENSG00000170903		0.393	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSANTD4	HGNC	protein_coding	OTTHUMT00000388619.1	-	0	34	0	T	NM_032424		105880425	-1	tier1	-	no_errors	ENST00000301919	ensembl	human	known	74_37	missense	67.27	18	37	SNP	1.000	C	C	105880425	T	C	105880425	3	2	84	1	0	0	0	0	1	0	0	0	8287	1667	58	4	166	4	KIAA1826	11	105880425	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	13302657	105880425	29126091	196	22391											
CUL5	8065	genome.wustl.edu	37	chr11	107920757	107920758	+	Frame_Shift_Ins	INS	-	-	A																															tgggtaaacagggcagcaatINSaaaaaatcaaatgtggaaga																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:107920757_107920758insA	ENST00000393094.2	+	4	991_992	c.375_376insA	c.(376-378)aaafs	p.K126fs		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	126					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGGGCAGCAATAAAAAATCAAA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.381dupA	11.37:g.107920763_107920763dupA	ENSP00000376808:p.Lys126fs		A8K960|O14766|Q9BZC6	Frame_Shift_Ins	INS	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S127fs	ENST00000393094.2	37	c.375_376	CCDS31668.1	11																																																																																			CUL5	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000166266		0.322	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1		0	71	0	-			107920758	1	tier1		no_errors	ENST00000393094	ensembl	human	known	74_37	frame_shift_ins	17.80	97	21	INS	1.000:1.000	A	A	107920758	-	A	107920757	7	5	84	1	0	1	1	0	0	0	0	0	4068	1403	49	0	389	0	CUL5	11	107920757	Frame_Shift_Ins	INS	-	TCGA-L5-A8NJ-01A-11D-A36J-09	2040332	107920757	27085759	197	22392											
RDX	5962	genome.wustl.edu	37	chr11	110106906	110106906	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttggcagtgaattcagcaAgttctgctgcctaaagtaaa	12	12	9	8	0	3	1	1	1	2	0	3	1	3	1	1	1	3	5	1	1	6	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:110106906A>C	ENST00000343115.4	-	12	1581	c.1262T>G	c.(1261-1263)cTt>cGt	p.L421R	RDX_ENST00000544551.1_Missense_Mutation_p.L285R|RDX_ENST00000528900.1_Missense_Mutation_p.L74R|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.L421R|RDX_ENST00000528498.1_Missense_Mutation_p.L421R	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	421	Glu-rich.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GAATTCAGCAAGTTCTGCTGC	0.328																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													103	94	97					11																	110106906		2201	4298	6499	SO:0001583	missense	0			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"deafness, autosomal recessive 24"	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.1262T>G	11.37:g.110106906A>C	ENSP00000342830:p.Leu421Arg		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.L421R	ENST00000343115.4	37	c.1262	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	A	19.56	3.850930	0.71719	.	.	ENSG00000137710	ENST00000528498;ENST00000405097;ENST00000528900;ENST00000343115;ENST00000544551;ENST00000530085	D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	6.08	6.08	0.98989	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.64402	D	0.000003	D	0.90497	0.7023	M	0.82056	2.57	0.80722	D	1	D;D;D;P	0.59767	0.986;0.957;0.979;0.933	D;P;D;P	0.67103	0.94;0.782;0.949;0.889	D	0.88716	0.3226	10	0.24483	T	0.36	.	16.6512	0.85203	1.0:0.0:0.0:0.0	.	285;421;421;74	F5H1A7;A7YIJ8;P35241;A7YIK3	.;.;RADI_HUMAN;.	R	421;421;74;421;285;91	ENSP00000432112:L421R;ENSP00000384136:L421R;ENSP00000433580:L74R;ENSP00000342830:L421R;ENSP00000445826:L285R;ENSP00000434788:L91R	ENSP00000342830:L421R	L	-	2	0	RDX	109612116	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.333000	0.79357	0.482000	0.46254	CTT	RDX	-	pirsf_ERM,pfam_ERM_C_dom	ENSG00000137710		0.328	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	-	0	45	0	A	NM_002906		110106906	-1	tier1	-	no_errors	ENST00000530749	ensembl	human	known	74_37	missense	34.69	32	17	SNP	1.000	C	C	110106906	A	C	110106906	3	2	84	1	0	0	0	0	1	0	0	0	13243	72	3	4	501	4	RDX	11	110106906	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2186149	110106906	24899610	198	22393											
DSCAML1	57453	genome.wustl.edu	37	chr11	117387276	117387276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccatgcccttctgcacGtcagtcagcttgagggtccc	6	11	9	15	1	4	1	3	1	1	0	6	1	6	1	3	1	3	2	3	1	0	2	rs575618156		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:117387276G>A	ENST00000321322.6	-	8	1870	c.1869C>T	c.(1867-1869)gaC>gaT	p.D623D	DSCAML1_ENST00000527706.1_Silent_p.D353D	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	563	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCTTCTGCACGTCAGTCAGCT	0.577													G|||	1	0.000199681	0	0	5008	,	,		20363	0		0	False		,,,				2504	0.001																0													118	90	100					11																	117387276		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1869C>T	11.37:g.117387276G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D623	ENST00000321322.6	37	c.1869	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.577	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	35	0	G	NM_020693		117387276	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	59.65	23	34	SNP	0.497	A	A	117387276	G	A	117387276	2	1	84	1	0	0	0	0	0	0	0	1	4783	1136	40	1		1	DSCAML1	11	117387276	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7280370	117387276	17619240	199	22394											
ROBO3	64221	genome.wustl.edu	37	chr11	124735606	124735606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgctcaaccacaccctgCtgcctcccggcgatccctct	5	7	8	21	4	2	0	1	0	1	0	4	1	4	0	5	2	3	2	5	2	1	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:124735606C>T	ENST00000397801.1	+	1	325	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	ROBO3_ENST00000538940.1_5'Flank	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	45					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCACACCCTGCTGCCTCCCGG	0.632											OREG0021466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													30	35	33					11																	124735606		2192	4296	6488	SO:0001819	synonymous_variant	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.133C>T	11.37:g.124735606C>T		1536		Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L45	ENST00000397801.1	37	c.133	CCDS44755.1	11																																																																																			ROBO3	-	NULL	ENSG00000154134		0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1		0	23	0	C	XM_370663		124735606	1			no_errors	ENST00000397801	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.999	T	T	124735606	C	T	124735606	2	4	84	1	0	0	0	0	0	0	0	1	13560	796	28	3		3	ROBO3	11	124735606	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	7348330	124735606	10270910	200	22395											
ROBO4	54538	genome.wustl.edu	37	chr11	124757376	124757376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggcccgccaggcaacCagagcttggggcacagctcc	8	3	13	17	1	0	1	0	0	0	1	1	1	1	1	5	4	3	4	5	4	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:124757376C>T	ENST00000306534.3	-	14	2561	c.2076G>A	c.(2074-2076)ctG>ctA	p.L692L	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Silent_p.L547L	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	692					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCCAGGCAACCAGAGCTTGGG	0.622																																																	0													50	54	53					11																	124757376		2201	4299	6500	SO:0001819	synonymous_variant	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2076G>A	11.37:g.124757376C>T			A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L692	ENST00000306534.3	37	c.2076	CCDS8455.1	11																																																																																			ROBO4	-	NULL	ENSG00000154133		0.622	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	-	0	52	0	C	NM_019055		124757376	-1	tier1	-	no_errors	ENST00000306534	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.997	T	T	124757376	C	T	124757376	2	4	84	1	0	0	0	0	0	0	0	1	13561	581	21	3		3	ROBO4	11	124757376	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	21770	124757376	10249140	201	22396											
NCAPD3	23310	genome.wustl.edu	37	chr11	134062627	134062627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagtaagaagcgcccAggcgaggacctggctgtcgt	10	5	17	9	3	0	2	0	0	0	2	1	6	0	3	2	4	1	2	2	4	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:134062627A>G	ENST00000534548.2	-	16	2066	c.2002T>C	c.(2002-2004)Tgg>Cgg	p.W668R		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	668					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGAAGCGCCCAGGCGAGGACC	0.542																																																	0													109	102	104					11																	134062627		2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2002T>C	11.37:g.134062627A>G	ENSP00000433681:p.Trp668Arg		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.W668R	ENST00000534548.2	37	c.2002	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	A	16.39	3.111278	0.56398	.	.	ENSG00000151503	ENST00000534548	T	0.63255	-0.03	5.88	5.88	0.94601	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79862	0.4519	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81355	-0.0970	10	0.54805	T	0.06	-14.3761	16.2762	0.82644	1.0:0.0:0.0:0.0	.	668	P42695	CNDD3_HUMAN	R	668	ENSP00000433681:W668R	ENSP00000431612:W668R	W	-	1	0	NCAPD3	133567837	1.000000	0.71417	0.908000	0.35775	0.043000	0.13939	8.912000	0.92726	2.243000	0.73865	0.482000	0.46254	TGG	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.542	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0	56	0	A	NM_015261		134062627	-1	tier1	-	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.998	G	G	134062627	A	G	134062627	3	3	84	1	0	0	0	0	1	0	0	0	10245	188	7	4	2574	4	NCAPD3	11	134062627	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	9305251	134062627	943889	202	22397											
GLB1L3	112937	genome.wustl.edu	37	chr11	134147682	134147682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtcggggtaagccccacTtcacactggagggccacaag	10	5	13	13	1	1	0	1	0	0	0	2	1	1	1	3	5	1	1	3	5	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr11:134147682T>C	ENST00000431683.2	+	3	238	c.238T>C	c.(238-240)Ttc>Ctc	p.F80L	GLB1L3_ENST00000389887.5_Missense_Mutation_p.F80L	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	80					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TAAGCCCCACTTCACACTGGA	0.582																																																	0													42	48	46					11																	134147682		2201	4296	6497	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.238T>C	11.37:g.134147682T>C	ENSP00000396615:p.Phe80Leu		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.F80L	ENST00000431683.2	37	c.238	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238683	0.79800	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97430	-4.38;-4.38	5.06	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.97779	0.9271	M	0.63428	1.95	0.58432	D	0.999991	D;D	0.89917	1.0;0.998	D;D	0.83275	0.993;0.996	D	0.98210	1.0472	9	0.72032	D	0.01	.	12.7469	0.57285	0.0:0.0:0.0:1.0	.	80;80	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	L	80	ENSP00000374537:F80L;ENSP00000396615:F80L	ENSP00000374537:F80L	F	+	1	0	GLB1L3	133652892	1.000000	0.71417	0.967000	0.41034	0.185000	0.23345	6.943000	0.75934	2.265000	0.75225	0.477000	0.44152	TTC	GLB1L3	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF	ENSG00000166105		0.582	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0	57	0	T	NM_138416		134147682	1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	missense	55.07	31	38	SNP	1.000	C	C	134147682	T	C	134147682	3	2	84	1	0	0	0	0	1	0	0	0	6456	1609	56	4	248	4	GLB1L3	11	134147682	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	85055	134147682	858834	203	22398											
ANO2	57101	genome.wustl.edu	37	chr12	5674779	5674779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaataaaccagtactgtttcGaaaactcataagggttcggg	14	10	10	7	2	1	0	1	0	0	0	3	2	1	0	1	2	3	3	1	2	7	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:5674779G>A	ENST00000356134.5	-	26	2746	c.2675C>T	c.(2674-2676)tCg>tTg	p.S892L	ANO2_ENST00000546188.1_Missense_Mutation_p.S892L|ANO2_ENST00000327087.8_Missense_Mutation_p.S891L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	896					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.S892L(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GTACTGTTTCGAAAACTCATA	0.502																																																	1	Substitution - Missense(1)	skin(1)											45	44	45					12																	5674779		1850	4094	5944	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2675C>T	12.37:g.5674779G>A	ENSP00000348453:p.Ser892Leu		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.S892L	ENST00000356134.5	37	c.2675		12	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009850	0.93346	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.68765	-0.35;-0.35;-0.35	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.83857	0.5345	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.86800	0.1991	10	0.62326	D	0.03	.	17.1848	0.86863	0.0:0.0:1.0:0.0	.	891	Q9NQ90-3	.	L	891;892;892;896	ENSP00000314048:S891L;ENSP00000348453:S892L;ENSP00000440981:S892L	ENSP00000314048:S891L	S	-	2	0	ANO2	5545040	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.309000	0.77851	0.561000	0.74099	TCG	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.502	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0	55	0	G	NM_020373		5674779	-1	tier1	-	no_errors	ENST00000356134	ensembl	human	known	74_37	missense	28.95	54	22	SNP	1.000	A	A	5674779	G	A	5674779	3	1	84	1	0	0	0	0	1	0	0	0	697	1059	37	1	332	1	ANO2	12	5674779	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09		5674779	128177116	204	22399											
ENO2	2026	genome.wustl.edu	37	chr12	7031523	7031523	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcaagactggtgcccCgtgccgttctgaacgtctgg	7	10	12	12	3	4	3	2	1	2	2	4	3	4	3	3	2	3	1	3	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:7031523C>G	ENST00000535366.1	+	10	1819	c.1193C>G	c.(1192-1194)cCg>cGg	p.P398R	ENO2_ENST00000229277.1_Missense_Mutation_p.P398R|ENO2_ENST00000541477.1_Missense_Mutation_p.P398R|ENO2_ENST00000544774.1_Missense_Mutation_p.P355R|ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000545045.2_Missense_Mutation_p.P279R|ENO2_ENST00000538763.1_Missense_Mutation_p.P355R|ENO2_ENST00000534977.1_3'UTR			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	398					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTGGTGCCCCGTGCCGTTCT	0.552																																																	0													91	82	85					12																	7031523		2203	4300	6503	SO:0001583	missense	0			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1193C>G	12.37:g.7031523C>G	ENSP00000437402:p.Pro398Arg		B7Z2X9|Q96J33	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.P398R	ENST00000535366.1	37	c.1193	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406163	0.83230	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2	4.22	4.22	0.49857	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	H	0.99507	4.6	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.83275	0.987;0.996	D	0.83903	0.0291	10	0.87932	D	0	-8.7412	17.1386	0.86747	0.0:1.0:0.0:0.0	.	355;398	B7Z2X9;P09104	.;ENOG_HUMAN	R	398;398;355;355;398;279	ENSP00000438873:P398R;ENSP00000229277:P398R;ENSP00000441490:P355R;ENSP00000446195:P355R;ENSP00000437402:P398R;ENSP00000438062:P279R	ENSP00000229277:P398R	P	+	2	0	ENO2	6901784	1.000000	0.71417	0.976000	0.42696	0.957000	0.61999	7.651000	0.83577	2.361000	0.80049	0.455000	0.32223	CCG	ENO2	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase	ENSG00000111674		0.552	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1		0	32	0	C			7031523	1			no_errors	ENST00000229277	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	G	G	7031523	C	G	7031523	3	3	84	1	0	0	0	0	1	0	0	0	5138	652	23	5	1231	5	ENO2	12	7031523	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1356744	7031523	126820372	205	22400											
APOBEC1	339	genome.wustl.edu	37	chr12	7805406	7805406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggggtcatagaagacgtCaaactcccagggttcgattc	10	10	11	10	2	3	2	2	0	1	2	6	3	4	2	1	3	1	1	1	3	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:7805406C>T	ENST00000229304.4	-	3	90	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	24					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TAGAAGACGTCAAACTCCCAG	0.478																																					Pancreas(135;929 1826 4531 10527 41012)												0													47	48	48					12																	7805406		2199	4297	6496	SO:0001583	missense	0			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"Apolipoprotein B mRNA editing enzymes"	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.70G>A	12.37:g.7805406C>T	ENSP00000229304:p.Asp24Asn		Q9UE64|Q9UM71	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.D24N	ENST00000229304.4	37	c.70	CCDS8579.1	12	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715099	0.15306	.	.	ENSG00000111701	ENST00000229304	T	0.62105	0.05	4.48	1.46	0.22682	APOBEC-like, N-terminal (1);	0.353786	0.24262	N	0.040077	T	0.35307	0.0927	N	0.14661	0.345	0.19575	N	0.999963	B	0.25007	0.116	B	0.24541	0.054	T	0.08472	-1.0720	10	0.25106	T	0.35	-3.2997	2.6725	0.05071	0.1931:0.5154:0.1872:0.1042	.	24	P41238	ABEC1_HUMAN	N	24	ENSP00000229304:D24N	ENSP00000229304:D24N	D	-	1	0	APOBEC1	7696673	0.048000	0.20356	0.473000	0.27253	0.005000	0.04900	0.131000	0.15870	0.406000	0.25560	-0.475000	0.04921	GAC	APOBEC1	-	pfam_APOBEC_N	ENSG00000111701		0.478	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC1	HGNC	protein_coding	OTTHUMT00000280523.1	-	0	37	0	C	NM_001644		7805406	-1	tier1	-	no_errors	ENST00000229304	ensembl	human	known	74_37	missense	21.84	67	19	SNP	0.385	T	T	7805406	C	T	7805406	3	4	84	1	0	0	0	0	1	0	0	0	787	826	29	3	652	3	APOBEC1	12	7805406	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	773883	7805406	126046489	206	22401											
CLEC12A	160364	genome.wustl.edu	37	chr12	10133243	10133243	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacagctgttatttcctaAgtgatgatgtccaaacatgg	12	12	10	7	0	0	2	0	2	0	0	2	3	2	3	2	2	2	2	2	2	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:10133243A>C	ENST00000304361.4	+	4	624	c.442A>C	c.(442-444)Agt>Cgt	p.S148R	CLEC12A_ENST00000350667.4_Missense_Mutation_p.S115R|CLEC12A_ENST00000355690.4_Missense_Mutation_p.S158R|CLEC12A_ENST00000434319.2_Missense_Mutation_p.S148R	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	148	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TTATTTCCTAAGTGATGATGT	0.413																																					Melanoma(197;1487 2125 16611 22221 34855)												0													155	144	148					12																	10133243		2203	4300	6503	SO:0001583	missense	0			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"C-type lectin domain containing"	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.442A>C	12.37:g.10133243A>C	ENSP00000302804:p.Ser148Arg		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S158R	ENST00000304361.4	37	c.472	CCDS8608.1	12	.	.	.	.	.	.	.	.	.	.	A	3.686	-0.064589	0.07273	.	.	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319;ENST00000350667;ENST00000396506	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.4	-10.8	0.00216	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	.	.	.	.	T	0.17365	0.0417	M	0.84683	2.71	0.09310	N	1	B;B;B	0.19817	0.031;0.006;0.039	B;B;B	0.14578	0.008;0.005;0.011	T	0.24905	-1.0147	9	0.25106	T	0.35	.	0.4967	0.00573	0.2899:0.2605:0.2539:0.1958	.	115;148;158	Q5QGZ9-4;Q5QGZ9;Q5QGZ9-1	.;CL12A_HUMAN;.	R	158;148;148;148;115;21	ENSP00000347916:S158R;ENSP00000379764:S148R;ENSP00000302804:S148R;ENSP00000405244:S148R;ENSP00000345448:S115R	ENSP00000302804:S148R	S	+	1	0	CLEC12A	10024510	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.833000	0.00742	-4.636000	0.00038	-1.690000	0.00728	AGT	CLEC12A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000172322		0.413	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC12A	HGNC	protein_coding	OTTHUMT00000399545.1	-	0	64	0	A	NM_138337		10133243	1	tier1	-	no_errors	ENST00000355690	ensembl	human	known	74_37	missense	23.68	87	27	SNP	0.000	C	C	10133243	A	C	10133243	3	2	84	1	0	0	0	0	1	0	0	0	3504	72	3	4	456	4	CLEC12A	12	10133243	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2327837	10133243	123718652	207	22402											
CLEC7A	64581	genome.wustl.edu	37	chr12	10282624	10282624	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtattgctttgagagtcgaAgtgtaattgagtatatccat	11	15	11	4	1	0	2	0	2	0	1	2	4	1	2	1	1	1	4	1	1	5	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:10282624A>C	ENST00000304084.8	-	1	212	c.58T>G	c.(58-60)Ttc>Gtc	p.F20V	CLEC7A_ENST00000533022.1_Missense_Mutation_p.F20V|CLEC7A_ENST00000353231.5_Missense_Mutation_p.F20V|CLEC7A_ENST00000310002.4_Missense_Mutation_p.F20V|CLEC7A_ENST00000298523.5_Missense_Mutation_p.F20V|CLEC7A_ENST00000525605.1_Missense_Mutation_p.F20V|CLEC7A_ENST00000396484.2_Missense_Mutation_p.F20V	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	20					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGAGAGTCGAAGTGTAATTGA	0.358																																																	0													128	119	122					12																	10282624		2203	4300	6503	SO:0001583	missense	0			AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"C-type lectin domain containing"	14558	protein-coding gene	gene with protein product		606264	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.58T>G	12.37:g.10282624A>C	ENSP00000302569:p.Phe20Val		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.F20V	ENST00000304084.8	37	c.58	CCDS41753.1	12	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262096	0.39995	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000396484;ENST00000304084;ENST00000533022;ENST00000310002;ENST00000525605	T;T;T;T;T	0.07800	4.97;3.4;4.82;3.16;3.16	4.24	4.24	0.50183	.	0.000000	0.49916	D	0.000136	T	0.22003	0.0530	L	0.60904	1.88	0.33585	D	0.600331	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0;0.996;0.999;0.999	D;D;D;D;D;D;D;D	0.87578	0.996;0.986;0.997;0.996;0.998;0.986;0.995;0.994	T	0.13818	-1.0495	10	0.52906	T	0.07	.	10.0187	0.42029	1.0:0.0:0.0:0.0	.	20;20;20;20;20;20;20;20	Q96D32;Q9BXN2-6;Q9BXN2-4;Q9BXN2-5;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;.;CLC7A_HUMAN;.	V	20	ENSP00000266456:F20V;ENSP00000298523:F20V;ENSP00000379743:F20V;ENSP00000302569:F20V;ENSP00000431461:F20V	ENSP00000298523:F20V	F	-	1	0	CLEC7A	10173891	0.996000	0.38824	0.898000	0.35279	0.148000	0.21650	3.464000	0.53057	2.130000	0.65690	0.477000	0.44152	TTC	CLEC7A	-	NULL	ENSG00000172243		0.358	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC7A	HGNC	protein_coding	OTTHUMT00000390772.1	-	0	31	0	A	NM_197954		10282624	-1	tier1	-	no_errors	ENST00000304084	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.933	C	C	10282624	A	C	10282624	3	2	84	1	0	0	0	0	1	0	0	0	3528	72	3	4	745	4	CLEC7A	12	10282624	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	149381	10282624	123569271	208	22403											
PDE3A	5139	genome.wustl.edu	37	chr12	20792793	20792793	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacaggtatcttacagacTttttgaagacatgggcctct	10	15	8	8	0	2	3	0	1	2	2	2	3	2	3	1	2	2	1	1	2	4	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:20792793T>G	ENST00000359062.3	+	10	2193	c.2153T>G	c.(2152-2154)cTt>cGt	p.L718R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	718					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCTTACAGACTTTTTGAAGAC	0.343																																																	0													114	108	110					12																	20792793		2201	4300	6501	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2153T>G	12.37:g.20792793T>G	ENSP00000351957:p.Leu718Arg		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.L718R	ENST00000359062.3	37	c.2153	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936357	0.73442	.	.	ENSG00000172572	ENST00000359062	T	0.79940	-1.32	5.03	5.03	0.67393	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.86343	2.81	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	D	0.92175	0.5747	10	0.87932	D	0	.	14.5798	0.68278	0.0:0.0:0.0:1.0	.	718	Q14432	PDE3A_HUMAN	R	718	ENSP00000351957:L718R	ENSP00000351957:L718R	L	+	2	0	PDE3A	20684060	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.153000	0.77428	2.113000	0.64589	0.402000	0.26972	CTT	PDE3A	-	NULL	ENSG00000172572		0.343	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	-	0	31	0	T			20792793	1	tier1	-	no_errors	ENST00000359062	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	G	G	20792793	T	G	20792793	3	3	84	1	0	0	0	0	1	0	0	0	11676	1609	56	4	2191	4	PDE3A	12	20792793	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	10510169	20792793	113059102	209	22404											
FAM60A	58516	genome.wustl.edu	37	chr12	31448177	31448178	+	Frame_Shift_Ins	INS	-	-	T																															atggactaacatgattccagINStttttttttgatcctgctgg																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:31448177_31448178insT	ENST00000337682.4	-	3	586_587	c.218_219insA	c.(217-219)aacfs	p.N73fs	FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Frame_Shift_Ins_p.N73fs|FAM60A_ENST00000395766.1_5'UTR	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	73					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CATGATTCCAGTTTTTTTTTGA	0.356																																																	0																																										SO:0001589	frameshift_variant	0			AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"chromosome 12 open reading frame 14"	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.219dupA	12.37:g.31448186_31448186dupT	ENSP00000337477:p.Asn73fs		D3DUV8|Q9BSZ8	Frame_Shift_Ins	INS	NULL	p.N73fs	ENST00000337682.4	37	c.219_218	CCDS8723.1	12																																																																																			FAM60A	-	NULL	ENSG00000139146		0.356	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM60A	HGNC	protein_coding	OTTHUMT00000400347.1		0	51	0	-	NM_021238		31448178	-1	tier1		no_errors	ENST00000337682	ensembl	human	known	74_37	frame_shift_ins	9.09	30	3	INS	1.000:1.000	T	T	31448178	-	T	31448177	7	5	84	1	0	1	1	0	0	0	0	0	5617	1020	36	0	462	0	FAM60A	12	31448177	Frame_Shift_Ins	INS	-	TCGA-L5-A8NJ-01A-11D-A36J-09	10655384	31448177	102403718	210	22405											
C12orf35	55196	genome.wustl.edu	37	chr12	32134669	32134669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaactttaccatcaaggcaGacctcagctgtaccatcaca	13	10	5	13	0	3	1	3	0	0	1	3	1	3	1	3	1	4	3	3	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:32134669G>T	ENST00000312561.4	+	4	1194	c.780G>T	c.(778-780)caG>caT	p.Q260H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	260																	CATCAAGGCAGACCTCAGCTG	0.393																																																	0													80	81	80					12																	32134669		2203	4300	6503	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.780G>T	12.37:g.32134669G>T	ENSP00000310338:p.Gln260His		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.Q260H	ENST00000312561.4	37	c.780	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102788	0.37145	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06608	3.95;3.28	5.68	-0.624	0.11552	.	0.868861	0.09850	N	0.747664	T	0.03477	0.0100	N	0.16656	0.425	0.09310	N	1	B	0.27700	0.186	B	0.25759	0.063	T	0.47649	-0.9101	9	.	.	.	.	5.1603	0.15058	0.3573:0.0:0.5133:0.1294	.	260	Q9HCM1	CL035_HUMAN	H	260	ENSP00000310338:Q260H;ENSP00000370442:Q260H	.	Q	+	3	2	C12orf35	32025936	0.009000	0.17119	0.000000	0.03702	0.010000	0.07245	-0.248000	0.08854	-0.145000	0.11294	0.650000	0.86243	CAG	KIAA1551	-	NULL	ENSG00000174718		0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	22	0	G	NM_018169		32134669	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.000	T	T	32134669	G	T	32134669	3	4	84	1	0	0	0	0	1	0	0	0	1687	933	33	3	782	3	C12orf35	12	32134669	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	686492	32134669	101717226	211	22406			1	19		4	4	1214	G		4.428495e-07
C12orf35	55196	genome.wustl.edu	37	chr12	32135390	32135390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagaaggtttaaccaagttGattctgttttaccaaatcct	12	14	7	8	0	1	2	0	1	1	1	2	2	2	2	3	1	2	4	3	1	5	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:32135390G>C	ENST00000312561.4	+	4	1915	c.1501G>C	c.(1501-1503)Gat>Cat	p.D501H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	501																	TAACCAAGTTGATTCTGTTTT	0.383																																																	0													78	80	79					12																	32135390		2203	4300	6503	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1501G>C	12.37:g.32135390G>C	ENSP00000310338:p.Asp501His		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.D501H	ENST00000312561.4	37	c.1501	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428596	0.25726	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06449	3.94;3.3	4.7	-1.17	0.09648	.	1.340870	0.05227	N	0.509654	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.29805	0.257	B	0.29598	0.104	T	0.46205	-0.9208	9	.	.	.	.	7.9503	0.30010	0.4793:0.0:0.5207:0.0	.	501	Q9HCM1	CL035_HUMAN	H	501	ENSP00000310338:D501H;ENSP00000370442:D501H	.	D	+	1	0	C12orf35	32026657	0.050000	0.20438	0.000000	0.03702	0.062000	0.15995	1.672000	0.37523	-0.161000	0.10983	-0.670000	0.03821	GAT	KIAA1551	-	NULL	ENSG00000174718		0.383	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	35	0	G	NM_018169		32135390	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	45.00	44	36	SNP	0.000	C	C	32135390	G	C	32135390	3	2	84	1	0	0	0	0	1	0	0	0	1687	1290	45	5	1503	5	C12orf35	12	32135390	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	721	32135390	101716505	212	22407			1	19		4	4	1214	G		4.428495e-07
C12orf35	55196	genome.wustl.edu	37	chr12	32135420	32135420	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaatcctgtctattctGaaaagcggccaatgccagac	13	9	7	12	1	2	2	0	1	2	1	3	2	3	2	4	1	3	0	4	1	6	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:32135420G>T	ENST00000312561.4	+	4	1945	c.1531G>T	c.(1531-1533)Gaa>Taa	p.E511*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	511																	TGTCTATTCTGAAAAGCGGCC	0.388																																																	0													60	61	61					12																	32135420		2203	4300	6503	SO:0001587	stop_gained	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1531G>T	12.37:g.32135420G>T	ENSP00000310338:p.Glu511*		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.E511*	ENST00000312561.4	37	c.1531	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	38	6.771860	0.97825	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	.	.	.	4.54	3.63	0.41609	.	0.840369	0.09685	N	0.769166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6919	0.45875	0.0:0.1936:0.8064:0.0	.	.	.	.	X	511	.	.	E	+	1	0	C12orf35	32026687	0.034000	0.19679	0.002000	0.10522	0.009000	0.06853	2.190000	0.42630	0.862000	0.35528	0.563000	0.77884	GAA	KIAA1551	-	NULL	ENSG00000174718		0.388	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	29	0	G	NM_018169		32135420	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	nonsense	34.15	54	28	SNP	0.002	T	T	32135420	G	T	32135420	4	4	84	1	0	0	0	0	0	1	0	0	1687	1291	45	3	1533	3	C12orf35	12	32135420	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	30	32135420	101716475	213	22408			1	19		4	4	1214	G		4.428495e-07
C12orf35	55196	genome.wustl.edu	37	chr12	32135882	32135882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggaatgcctgctaaaagtGacagtagctgttccatggaa	14	9	11	7	0	0	1	0	1	0	0	1	3	1	3	2	2	3	4	2	2	6	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:32135882G>A	ENST00000312561.4	+	4	2407	c.1993G>A	c.(1993-1995)Gac>Aac	p.D665N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	665																	TGCTAAAAGTGACAGTAGCTG	0.428																																																	0													71	66	68					12																	32135882		2203	4299	6502	SO:0001583	missense	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1993G>A	12.37:g.32135882G>A	ENSP00000310338:p.Asp665Asn		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.D665N	ENST00000312561.4	37	c.1993	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309967	0.40895	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.14640	3.67;2.49	4.96	3.12	0.35913	.	1.041540	0.07572	N	0.918764	T	0.12220	0.0297	L	0.43152	1.355	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.33523	-0.9865	9	.	.	.	.	5.4949	0.16797	0.3358:0.0:0.6642:0.0	.	665	Q9HCM1	CL035_HUMAN	N	665	ENSP00000310338:D665N;ENSP00000370442:D665N	.	D	+	1	0	C12orf35	32027149	0.011000	0.17503	0.004000	0.12327	0.016000	0.09150	1.938000	0.40203	1.093000	0.41377	-0.253000	0.11424	GAC	KIAA1551	-	NULL	ENSG00000174718		0.428	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	-	0	33	0	G	NM_018169		32135882	1	tier1	-	no_errors	ENST00000312561	ensembl	human	known	74_37	missense	44.79	53	43	SNP	0.001	A	A	32135882	G	A	32135882	3	1	84	1	0	0	0	0	1	0	0	0	1687	1290	45	3	1995	3	C12orf35	12	32135882	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	462	32135882	101716013	214	22409			1	19		4	4	1214	G		4.428495e-07
LRRK2	120892	genome.wustl.edu	37	chr12	40681184	40681184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactagcaagaatggtgatCagatatcagatgaaaagtgc	17	8	10	6	0	2	5	2	2	0	3	2	5	2	5	0	1	2	1	0	1	6	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:40681184C>T	ENST00000298910.7	+	20	2590	c.2532C>T	c.(2530-2532)atC>atT	p.I844I	LRRK2_ENST00000343742.2_Silent_p.I844I	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	844					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAATGGTGATCAGATATCAGA	0.363																																																	0													99	93	95					12																	40681184		2203	4299	6502	SO:0001819	synonymous_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2532C>T	12.37:g.40681184C>T			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.I844	ENST00000298910.7	37	c.2532	CCDS31774.1	12																																																																																			LRRK2	-	NULL	ENSG00000188906		0.363	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	23	0	C	XM_058513		40681184	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	21.88	50	14	SNP	0.991	T	T	40681184	C	T	40681184	2	4	84	1	0	0	0	0	0	0	0	1	9068	816	29	3		3	LRRK2	12	40681184	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	8545302	40681184	93170711	215	22410											
LRRK2	120892	genome.wustl.edu	37	chr12	40681261	40681261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttctgaagatgtgctgtCtaaatttgatgaatggacct	10	17	9	5	0	2	4	0	3	2	1	2	5	2	5	1	1	1	1	1	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:40681261C>G	ENST00000298910.7	+	20	2667	c.2609C>G	c.(2608-2610)tCt>tGt	p.S870C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S870C	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	870					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATGTGCTGTCTAAATTTGAT	0.378																																																	0													124	120	121					12																	40681261		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2609C>G	12.37:g.40681261C>G	ENSP00000298910:p.Ser870Cys		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.S870C	ENST00000298910.7	37	c.2609	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	5.541	0.284668	0.10513	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72835	2.15;-0.69	5.5	1.52	0.23074	.	0.367330	0.27856	N	0.017574	T	0.47581	0.1453	N	0.08118	0	0.09310	N	1	B;B	0.25719	0.102;0.132	B;B	0.27262	0.078;0.012	T	0.41448	-0.9508	10	0.56958	D	0.05	.	8.1946	0.31389	0.6178:0.2558:0.0:0.1264	.	870;870	E9PC85;Q5S007	.;LRRK2_HUMAN	C	870	ENSP00000341930:S870C;ENSP00000298910:S870C	ENSP00000298910:S870C	S	+	2	0	LRRK2	38967528	0.996000	0.38824	0.001000	0.08648	0.129000	0.20672	0.999000	0.29757	0.013000	0.14918	-0.714000	0.03626	TCT	LRRK2	-	NULL	ENSG00000188906		0.378	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	40	0	C	XM_058513		40681261	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	missense	16.22	62	12	SNP	0.061	G	G	40681261	C	G	40681261	3	3	84	1	0	0	0	0	1	0	0	0	9068	913	32	5	2687	5	LRRK2	12	40681261	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	77	40681261	93170634	216	22411											
C12orf68	387856	genome.wustl.edu	37	chr12	48577990	48577990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccaccgtgccggcagtgGgggacgtgatctccggggag	5	7	18	11	4	1	1	0	1	1	0	3	3	2	3	4	5	1	1	4	5	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:48577990G>A	ENST00000316554.3	+	1	625	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		29						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GCCGGCAGTGGGGGACGTGAT	0.637																																																	0													49	59	56					12																	48577990		2203	4300	6503	SO:0001583	missense	0																														ENST00000316554.3:c.85G>A	12.37:g.48577990G>A	ENSP00000320849:p.Gly29Arg		Q96MK5|Q96N39	Missense_Mutation	SNP	NULL	p.G29R	ENST00000316554.3	37	c.85	CCDS31785.1	12	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081883	0.36758	.	.	ENSG00000177875	ENST00000316554	T	0.61627	0.09	4.97	4.97	0.65823	.	0.000000	0.52532	D	0.000068	T	0.53948	0.1828	N	0.08118	0	0.36663	D	0.878076	P	0.48998	0.918	P	0.59825	0.864	T	0.66830	-0.5824	10	0.87932	D	0	-25.7111	13.5964	0.61994	0.0:0.0:1.0:0.0	.	29	Q52MB2	CL068_HUMAN	R	29	ENSP00000320849:G29R	ENSP00000320849:G29R	G	+	1	0	C12orf68	46864257	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	4.341000	0.59335	2.568000	0.86640	0.650000	0.86243	GGG	C12orf68	-	NULL	ENSG00000177875		0.637	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	-	0	67	0	G			48577990	1	tier1	-	no_errors	ENST00000316554	ensembl	human	known	74_37	missense	29.00	71	29	SNP	1.000	A	A	48577990	G	A	48577990	3	1	84	1	0	0	0	0	1	0	0	0	1715	1232	43	3	87	3	C12orf68	12	48577990	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7896729	48577990	85273905	217	22412											
KRT77	374454	genome.wustl.edu	37	chr12	53088453	53088453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcgtccttgctcctctgtGcaatcagttcatactgggtc	5	14	8	14	1	3	0	2	0	1	0	7	0	5	0	3	1	3	3	3	1	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:53088453G>T	ENST00000341809.3	-	5	1065	c.1037C>A	c.(1036-1038)gCa>gAa	p.A346E	KRT77_ENST00000537195.1_Missense_Mutation_p.A113E|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	346	Coil 2.|Rod.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTCCTCTGTGCAATCAGTTC	0.552																																																	0													122	85	98					12																	53088453		2203	4300	6503	SO:0001583	missense	0			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.1037C>A	12.37:g.53088453G>T	ENSP00000342710:p.Ala346Glu		Q7RTS8	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.A346E	ENST00000341809.3	37	c.1037	CCDS8837.1	12	.	.	.	.	.	.	.	.	.	.	G	15.99	2.994965	0.54041	.	.	ENSG00000189182	ENST00000341809;ENST00000537195	T;T	0.79845	-1.31;-1.31	4.94	3.07	0.35406	Filament (1);	.	.	.	.	D	0.93281	0.7859	H	0.98754	4.32	0.27759	N	0.943901	D	0.71674	0.998	D	0.72625	0.978	D	0.86615	0.1875	9	0.87932	D	0	.	11.6708	0.51399	0.1566:0.0:0.8434:0.0	.	346	Q7Z794	K2C1B_HUMAN	E	346;113	ENSP00000342710:A346E;ENSP00000440803:A113E	ENSP00000342710:A346E	A	-	2	0	KRT77	51374720	0.998000	0.40836	0.030000	0.17652	0.237000	0.25408	6.421000	0.73353	1.222000	0.43521	0.555000	0.69702	GCA	KRT77	-	pfam_IF,superfamily_Prefoldin	ENSG00000189182		0.552	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT77	HGNC	protein_coding	OTTHUMT00000404111.1	-	0	37	0	G	NM_175078		53088453	-1	tier1	-	no_errors	ENST00000341809	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.697	T	T	53088453	G	T	53088453	3	4	84	1	0	0	0	0	1	0	0	0	8517	1319	46	3	719	3	KRT77	12	53088453	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	4510463	53088453	80763442	218	22413											
STAT2	6773	genome.wustl.edu	37	chr12	56737822	56737822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctctaagtccaggcTgagctctggctctggcacca	7	9	12	13	0	3	1	0	1	3	0	4	1	4	1	2	4	1	5	2	4	1	1	rs56067838		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:56737822T>A	ENST00000314128.4	-	23	2223	c.2200A>T	c.(2200-2202)Agc>Tgc	p.S734C	STAT2_ENST00000557235.1_Missense_Mutation_p.S730C|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	734					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						aagtccaggctgagctctggc	0.582																																																	0													37	34	35					12																	56737822		2203	4300	6503	SO:0001583	missense	0			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"SH2 domain containing"	11363	protein-coding gene	gene with protein product		600556	"signal transducer and activator of transcription 2, 113kD"			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2200A>T	12.37:g.56737822T>A	ENSP00000315768:p.Ser734Cys		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S734C	ENST00000314128.4	37	c.2200	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	T	10.09	1.255218	0.22965	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.86562	-2.14;-2.14	4.12	-2.71	0.05986	.	1.757540	0.03221	N	0.177524	T	0.72534	0.3472	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.57347	-0.7827	10	0.46703	T	0.11	0.295	1.2094	0.01902	0.1585:0.2323:0.1562:0.4529	.	730;734	G3V2M6;P52630	.;STAT2_HUMAN	C	734;730	ENSP00000315768:S734C;ENSP00000450751:S730C	ENSP00000315768:S734C	S	-	1	0	STAT2	55024089	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.357000	0.07651	-0.550000	0.06183	-0.366000	0.07423	AGC	STAT2	-	NULL	ENSG00000170581		0.582	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	-	0	46	0	T	NM_005419		56737822	-1	tier1	-	no_errors	ENST00000314128	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	A	A	56737822	T	A	56737822	3	1	84	1	0	0	0	0	1	0	0	0	15312	1580	55	5	363	5	STAT2	12	56737822	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	3649369	56737822	77114073	219	22414											
TRHDE	29953	genome.wustl.edu	37	chr12	72956759	72956759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagaataataattaccCaacagcattttatctatgat	19	13	3	6	0	1	2	0	1	1	1	1	2	1	2	1	0	3	1	1	0	10	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:72956759C>G	ENST00000261180.4	+	9	1942	c.1846C>G	c.(1846-1848)Caa>Gaa	p.Q616E	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	616					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATAATTACCCAACAGCATTT	0.313																																																	0													90	95	93					12																	72956759		2203	4294	6497	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1846C>G	12.37:g.72956759C>G	ENSP00000261180:p.Gln616Glu		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q616E	ENST00000261180.4	37	c.1846	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662712	0.88251	.	.	ENSG00000072657	ENST00000261180	T	0.02812	4.15	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	H	0.96662	3.86	0.80722	D	1	D	0.56521	0.976	P	0.52343	0.696	T	0.27054	-1.0085	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	616	Q9UKU6	TRHDE_HUMAN	E	616	ENSP00000261180:Q616E	ENSP00000261180:Q616E	Q	+	1	0	TRHDE	71243026	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.135000	0.71696	2.941000	0.99782	0.655000	0.94253	CAA	TRHDE	-	NULL	ENSG00000072657		0.313	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	74	0	C	NM_013381		72956759	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	31.33	57	26	SNP	1.000	G	G	72956759	C	G	72956759	3	3	84	1	0	0	0	0	1	0	0	0	16527	595	21	5	1880	5	TRHDE	12	72956759	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	16218937	72956759	60895136	220	22415											
BTBD11	121551	genome.wustl.edu	37	chr12	108029076	108029076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcagaatgaagtgatcagCcagcagctgtgcgtcatctt	10	10	11	10	1	3	3	2	2	1	1	3	3	3	3	1	0	5	3	1	0	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:108029076C>T	ENST00000280758.5	+	12	3174	c.2646C>T	c.(2644-2646)agC>agT	p.S882S	BTBD11_ENST00000357167.4_Silent_p.S419S|BTBD11_ENST00000490090.2_Silent_p.S882S|BTBD11_ENST00000420571.2_Silent_p.S763S|BTBD11_ENST00000494235.2_5'UTR	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	882						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGTGATCAGCCAGCAGCTGT	0.562																																																	0													144	130	134					12																	108029076		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2646C>T	12.37:g.108029076C>T			A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.S882	ENST00000280758.5	37	c.2646	CCDS31893.1	12																																																																																			BTBD11	-	NULL	ENSG00000151136		0.562	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	-	0	34	0	C	NM_152322		108029076	1	tier1	-	no_errors	ENST00000280758	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	108029076	C	T	108029076	2	4	84	1	0	0	0	0	0	0	0	1	1543	738	26	3		3	BTBD11	12	108029076	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	35072317	108029076	25822819	221	22416											
UBE3B	89910	genome.wustl.edu	37	chr12	109924360	109924360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttgtggtactgctgtGattttctcaagcagctcaag	9	15	9	8	0	2	1	2	1	1	0	3	1	2	1	0	1	4	4	0	1	3	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:109924360G>T	ENST00000342494.3	+	6	1022	c.427G>T	c.(427-429)Gat>Tat	p.D143Y	UBE3B_ENST00000280774.5_Missense_Mutation_p.D143Y|UBE3B_ENST00000434735.2_Missense_Mutation_p.D143Y|UBE3B_ENST00000540230.1_Missense_Mutation_p.D143Y|UBE3B_ENST00000536398.1_Missense_Mutation_p.D143Y|UBE3B_ENST00000340074.5_Missense_Mutation_p.D143Y|UBE3B_ENST00000537063.1_Missense_Mutation_p.D143Y	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	143					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTACTGCTGTGATTTTCTCAA	0.378																																																	0													132	118	123					12																	109924360		2203	4300	6503	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.427G>T	12.37:g.109924360G>T	ENSP00000340596:p.Asp143Tyr		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.D143Y	ENST00000342494.3	37	c.427	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302884	0.40795	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	T;T;T;T;T;T;T;T	0.67523	1.94;1.94;-0.27;1.94;1.94;-0.27;-0.27;1.94	5.93	1.38	0.22167	.	0.354438	0.34676	N	0.003777	T	0.38931	0.1059	N	0.03608	-0.345	0.26963	N	0.965776	B;B;B	0.23854	0.005;0.092;0.092	B;B;B	0.19148	0.024;0.01;0.01	T	0.35798	-0.9774	10	0.56958	D	0.05	.	9.0957	0.36638	0.1433:0.229:0.6277:0.0	.	143;143;143	Q7Z3V4;Q7Z3V4-3;F5H6D6	UBE3B_HUMAN;.;.	Y	143	ENSP00000391529:D143Y;ENSP00000280774:D143Y;ENSP00000440585:D143Y;ENSP00000443131:D143Y;ENSP00000340596:D143Y;ENSP00000342614:D143Y;ENSP00000443565:D143Y;ENSP00000437694:D143Y	ENSP00000280774:D143Y	D	+	1	0	UBE3B	108408743	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	1.859000	0.39418	0.364000	0.24374	0.655000	0.94253	GAT	UBE3B	-	NULL	ENSG00000151148		0.378	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1		0	28	0	G	NM_183415		109924360	1			no_errors	ENST00000342494	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	109924360	G	T	109924360	3	4	84	1	0	0	0	0	1	0	0	0	16929	1290	45	3	441	3	UBE3B	12	109924360	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1895284	109924360	23927535	222	22417											
LRRC43	254050	genome.wustl.edu	37	chr12	122674687	122674687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttccaggcccaacctcGtctccctggacctgggcttc	5	9	8	19	1	1	0	0	0	1	0	5	1	2	1	6	3	1	1	6	3	1	2	rs188524855	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:122674687G>T	ENST00000339777.4	+	5	701	c.673G>T	c.(673-675)Gtc>Ttc	p.V225F	LRRC43_ENST00000425921.1_Missense_Mutation_p.V40F	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	225										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCCAACCTCGTCTCCCTGGA	0.652																																																	0													113	124	120					12																	122674687		2146	4240	6386	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.673G>T	12.37:g.122674687G>T	ENSP00000344233:p.Val225Phe		Q6ZVT9	Missense_Mutation	SNP	NULL	p.V225F	ENST00000339777.4	37	c.673	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246149	0.22796	.	.	ENSG00000158113	ENST00000537729;ENST00000339777;ENST00000289014;ENST00000425921	T;T;T	0.24538	1.85;1.85;1.85	4.95	2.13	0.27403	.	0.151580	0.43416	D	0.000570	T	0.28134	0.0694	M	0.85197	2.74	0.37326	D	0.909762	P	0.39116	0.66	B	0.30401	0.115	T	0.28964	-1.0027	10	0.54805	T	0.06	-35.5951	10.0815	0.42393	0.2235:0.0:0.7765:0.0	.	225	Q8N309	LRC43_HUMAN	F	40;225;96;40	ENSP00000438751:V40F;ENSP00000344233:V225F;ENSP00000416628:V40F	ENSP00000289014:V96F	V	+	1	0	LRRC43	121240640	0.763000	0.28462	0.260000	0.24451	0.126000	0.20510	0.940000	0.28992	0.163000	0.19507	-0.215000	0.12644	GTC	LRRC43	-	NULL	ENSG00000158113		0.652	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	-	0	61	0	G	NM_152759		122674687	1	tier1	-	no_errors	ENST00000339777	ensembl	human	known	74_37	missense	30.34	62	27	SNP	0.947	T	T	122674687	G	T	122674687	3	4	84	1	0	0	0	0	1	0	0	0	9036	1145	40	2	691	2	LRRC43	12	122674687	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	12750327	122674687	11177208	223	22418											
POLE	5426	genome.wustl.edu	37	chr12	133250246	133250246	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttggccttggcggccgccTtgagattatgactgcccaca	6	10	12	13	2	0	2	0	2	0	1	0	3	0	2	4	3	1	1	4	3	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr12:133250246T>A	ENST00000320574.5	-	13	1317	c.1274A>T	c.(1273-1275)aAg>aTg	p.K425M	POLE_ENST00000535270.1_Missense_Mutation_p.K398M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	425					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GGCGGCCGCCTTGAGATTATG	0.582								DNA polymerases (catalytic subunits)																																									0													159	149	152					12																	133250246		2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1274A>T	12.37:g.133250246T>A	ENSP00000322570:p.Lys425Met		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.K425M	ENST00000320574.5	37	c.1274	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	T	18.35	3.605839	0.66445	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T;T	0.47177	4.73;4.73;4.73;0.85;2.8	5.62	5.62	0.85841	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.76205	0.3955	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82810	-0.0273	10	0.87932	D	0	.	15.8189	0.78626	0.0:0.0:0.0:1.0	.	398;425	F5H1D6;Q07864	.;DPOE1_HUMAN	M	425;436;398;205;360;43	ENSP00000322570:K425M;ENSP00000406383:K436M;ENSP00000445753:K398M;ENSP00000442519:K205M;ENSP00000443213:K43M	ENSP00000322570:K425M	K	-	2	0	POLE	131760319	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	7.956000	0.87863	2.148000	0.66965	0.254000	0.18369	AAG	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	53	0	T	NM_006231		133250246	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	26.15	48	17	SNP	1.000	A	A	133250246	T	A	133250246	3	1	84	1	0	0	0	0	1	0	0	0	12235	1609	56	5	5734	5	POLE	12	133250246	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	10575559	133250246	601649	224	22419											
SLC46A3	283537	genome.wustl.edu	37	chr13	29278217	29278217	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgtttctaagaaagcAatacaagcaaacagggtacc	17	7	8	9	0	1	1	0	0	1	1	1	1	1	1	2	1	5	4	2	1	8	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:29278217A>G	ENST00000266943.6	-	5	1533	c.1164T>C	c.(1162-1164)atT>atC	p.I388I	RNU6-53P_ENST00000365367.1_RNA|SLC46A3_ENST00000380814.4_Silent_p.I388I|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	388					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		CTAAGAAAGCAATACAAGCAA	0.403																																																	0													68	73	72					13																	29278217		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"Solute carriers"	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1164T>C	13.37:g.29278217A>G			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I388	ENST00000266943.6	37	c.1164	CCDS9332.1	13																																																																																			SLC46A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000139508		0.403	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	-	0	55	0	A	NM_181785		29278217	-1	tier1	-	no_errors	ENST00000266943	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.970	G	G	29278217	A	G	29278217	2	3	84	1	0	0	0	0	0	0	0	1	14691	126	5	4		4	SLC46A3	13	29278217	Silent	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09		29278217	85891661	225	22420											
MTUS2	23281	genome.wustl.edu	37	chr13	29601027	29601027	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagtcaaatgagtgaaaAgtttttgcaggaggtaagag	14	12	12	3	0	2	3	2	2	0	1	2	4	2	4	0	2	1	3	0	2	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:29601027A>C	ENST00000431530.3	+	1	2280	c.2222A>C	c.(2221-2223)aAg>aCg	p.K741T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	731	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.K741T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGAGTGAAAAGTTTTTGCAG	0.403																																																	1	Substitution - Missense(1)	stomach(1)											53	54	54					13																	29601027		1859	4090	5949	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2222A>C	13.37:g.29601027A>C	ENSP00000392057:p.Lys741Thr		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.K741T	ENST00000431530.3	37	c.2222	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	a	18.91	3.723039	0.68959	.	.	ENSG00000132938	ENST00000431530	T	0.19806	2.12	6.17	4.97	0.65823	.	0.094048	0.45867	N	0.000324	T	0.36276	0.0961	M	0.62723	1.935	0.80722	D	1	D	0.65815	0.995	P	0.56474	0.799	T	0.06373	-1.0830	9	.	.	.	.	12.809	0.57629	0.8634:0.1366:0.0:0.0	.	731	Q5JR59	MTUS2_HUMAN	T	741	ENSP00000392057:K741T	.	K	+	2	0	MTUS2	28499027	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.302000	0.72788	1.119000	0.41883	0.533000	0.62120	AAG	MTUS2	-	NULL	ENSG00000132938		0.403	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3		0	19	0	A	XM_166270		29601027	1			no_errors	ENST00000431530	ensembl	human	known	74_37	missense	38.46	8	5	SNP	1.000	C	C	29601027	A	C	29601027	3	2	84	1	0	0	0	0	1	0	0	0	10004	72	3	4	2224	4	MTUS2	13	29601027	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	322810	29601027	85568851	226	22421											
RXFP2	122042	genome.wustl.edu	37	chr13	32376475	32376475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtggatagaggactcctCttccctgaaacttggggttt	7	14	12	8	0	1	2	0	1	1	1	3	4	3	4	2	4	1	1	2	4	2	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:32376475C>G	ENST00000298386.2	+	18	2269	c.2198C>G	c.(2197-2199)tCt>tGt	p.S733C	RXFP2_ENST00000380314.1_Missense_Mutation_p.S709C	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	733					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GAGGACTCCTCTTCCCTGAAA	0.368																																																	0													174	189	184					13																	32376475		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2198C>G	13.37:g.32376475C>G	ENSP00000298386:p.Ser733Cys		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.S733C	ENST00000298386.2	37	c.2198	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750311	0.69533	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.73258	-0.73;-0.64	5.66	5.66	0.87406	.	0.068315	0.64402	D	0.000017	T	0.75796	0.3898	L	0.60455	1.87	0.31553	N	0.658568	D;D	0.64830	0.994;0.994	P;P	0.54460	0.753;0.753	T	0.79852	-0.1628	10	0.59425	D	0.04	.	12.6855	0.56946	0.0:0.9204:0.0:0.0795	.	709;733	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	C	709;733	ENSP00000369670:S709C;ENSP00000298386:S733C	ENSP00000298386:S733C	S	+	2	0	RXFP2	31274475	0.999000	0.42202	0.972000	0.41901	0.948000	0.59901	5.167000	0.64972	2.690000	0.91761	0.655000	0.94253	TCT	RXFP2	-	NULL	ENSG00000133105		0.368	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0	58	0	C	NM_130806		32376475	1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	35.29	44	24	SNP	0.998	G	G	32376475	C	G	32376475	3	3	84	1	0	0	0	0	1	0	0	0	13805	913	32	5	2268	5	RXFP2	13	32376475	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2775448	32376475	82793403	227	22422											
SOHLH2	54937	genome.wustl.edu	37	chr13	36764128	36764128	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaagagagatctttttgTttttctcgaactctgacaac	12	14	8	7	1	3	4	0	1	3	3	4	7	3	4	0	0	2	1	0	0	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:36764128T>G	ENST00000379881.3	-	6	684	c.596A>C	c.(595-597)aAc>aCc	p.N199T	SOHLH2_ENST00000317764.6_Missense_Mutation_p.N199T|SOHLH2_ENST00000554962.1_Missense_Mutation_p.N276T|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.N276T	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	199					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GATCTTTTTGTTTTTCTCGAA	0.318																																																	0													109	109	109					13																	36764128		2203	4300	6503	SO:0001583	missense	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"Basic helix-loop-helix proteins"	26026	protein-coding gene	gene with protein product	"spermatogenesis associated 28"					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.596A>C	13.37:g.36764128T>G	ENSP00000369210:p.Asn199Thr		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N276T	ENST00000379881.3	37	c.827	CCDS9355.1	13	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676784	0.29783	.	.	ENSG00000120669;ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000317764;ENST00000511166	D;D;T;D	0.97404	-4.37;-4.37;0.81;-4.37	5.1	-1.5	0.08691	Helix-loop-helix DNA-binding (2);	0.593152	0.16970	N	0.192141	D	0.90978	0.7163	N	0.14661	0.345	0.23215	N	0.998103	B;B	0.17038	0.02;0.02	B;B	0.19946	0.027;0.027	T	0.83158	-0.0100	10	0.49607	T	0.09	-3.2993	9.016	0.36170	0.0:0.4204:0.0:0.5796	.	276;199	B4DX90;Q9NX45	.;SOLH2_HUMAN	T	199;276;199;276	ENSP00000369210:N199T;ENSP00000451542:N276T;ENSP00000326838:N199T;ENSP00000421868:N276T	ENSP00000421868:N276T	N	-	2	0	CCDC169-SOHLH2;SOHLH2	35662128	0.000000	0.05858	0.600000	0.28864	0.639000	0.38242	-2.500000	0.00967	-0.270000	0.09285	-0.321000	0.08615	AAC	CCDC169-SOHLH2	-	superfamily_bHLH_dom,pfscan_bHLH_dom	ENSG00000250709		0.318	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169-SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	-	0	26	0	T	NM_017826		36764128	-1	tier1	-	no_errors	ENST00000511166	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.954	G	G	36764128	T	G	36764128	3	3	84	1	0	0	0	0	1	0	0	0	14969	1725	60	4	705	4	SOHLH2	13	36764128	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	4387653	36764128	78405750	228	22423											
FREM2	341640	genome.wustl.edu	37	chr13	39425912	39425912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttataagaattccagtgattCgccaaggagacacttcaaag	15	10	8	8	1	1	3	1	1	0	2	3	4	2	3	2	1	0	0	2	1	5	5	rs375661157		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:39425912C>T	ENST00000280481.7	+	11	7048	c.6832C>T	c.(6832-6834)Cgc>Tgc	p.R2278C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2278	Calx-beta 5.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCAGTGATTCGCCAAGGAGA	0.453																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	69	70	70		6832	5.6	1	13		70	0,8600		0,0,4300	no	missense	FREM2	NM_207361.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	2278/3170	39425912	1,13005	2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6832C>T	13.37:g.39425912C>T	ENSP00000280481:p.Arg2278Cys		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R2278C	ENST00000280481.7	37	c.6832	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182222	0.78677	2.27E-4	0.0	ENSG00000150893	ENST00000280481	T	0.43688	0.94	5.62	5.62	0.85841	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.73783	0.3631	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.79685	-0.1700	10	0.87932	D	0	.	19.655	0.95832	0.0:1.0:0.0:0.0	.	2278;2278	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	C	2278	ENSP00000280481:R2278C	ENSP00000280481:R2278C	R	+	1	0	FREM2	38323912	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	4.761000	0.62243	2.650000	0.89964	0.650000	0.86243	CGC	FREM2	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000150893		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2		0	48	0	C	NM_207361		39425912	1			no_errors	ENST00000280481	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	39425912	C	T	39425912	3	4	84	1	0	0	0	0	1	0	0	0	6069	884	31	1	6874	1	FREM2	13	39425912	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2661784	39425912	75743966	229	22424											
THSD1	55901	genome.wustl.edu	37	chr13	52952185	52952185	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggcatggctcctttcGgacgggccccctctgctgcc	2	11	11	17	2	1	0	0	0	1	0	4	1	3	1	5	4	2	3	5	4	0	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:52952185G>T	ENST00000258613.4	-	5	2098	c.1920C>A	c.(1918-1920)tcC>tcA	p.S640S	THSD1_ENST00000349258.4_Silent_p.S587S|THSD1_ENST00000544466.1_Silent_p.S261S	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	640					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCTCCTTTCGGACGGGCCCC	0.602																																																	0													45	46	46					13																	52952185		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"thrombospondin, type I, domain 1"				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1920C>A	13.37:g.52952185G>T			A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S640	ENST00000258613.4	37	c.1920	CCDS9432.1	13																																																																																			THSD1	-	NULL	ENSG00000136114		0.602	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	-	0	52	0	G			52952185	-1	tier1	-	no_errors	ENST00000258613	ensembl	human	known	74_37	silent	5.48	69	4	SNP	0.000	T	T	52952185	G	T	52952185	2	4	84	1	0	0	0	0	0	0	0	1	15924	1103	39	2		2	THSD1	13	52952185	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	13526273	52952185	62217693	230	22425											
PCDH9	5101	genome.wustl.edu	37	chr13	67800669	67800669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaactctgctgctctCtatcaaatgagacatttgac	11	13	8	9	0	3	2	1	2	2	1	4	4	3	3	0	1	3	3	0	1	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:67800669C>A	ENST00000377865.2	-	1	2038	c.1904G>T	c.(1903-1905)aGa>aTa	p.R635I	PCDH9_ENST00000544246.1_Missense_Mutation_p.R635I|PCDH9_ENST00000377861.3_Missense_Mutation_p.R635I|PCDH9_ENST00000328454.5_Missense_Mutation_p.R635I|PCDH9_ENST00000456367.1_Missense_Mutation_p.R635I			Q9HC56	PCDH9_HUMAN	protocadherin 9	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGCTGCTCTCTATCAAATGA	0.403																																																	0													108	99	102					13																	67800669		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1904G>T	13.37:g.67800669C>A	ENSP00000367096:p.Arg635Ile		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R635I	ENST00000377865.2	37	c.1904	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999459	0.93227	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.4	5.4	0.78164	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.81607	0.4858	M	0.90145	3.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	D	0.84797	0.0782	10	0.87932	D	0	.	19.3757	0.94508	0.0:1.0:0.0:0.0	.	635;635;635;635	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	I	635	ENSP00000442186:R635I;ENSP00000367096:R635I;ENSP00000401699:R635I;ENSP00000332060:R635I;ENSP00000367092:R635I	ENSP00000332060:R635I	R	-	2	0	PCDH9	66698670	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.651000	0.83577	2.814000	0.96858	0.655000	0.94253	AGA	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000184226		0.403	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1		0	38	0	C	NM_203487		67800669	-1			no_errors	ENST00000377865	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	67800669	C	A	67800669	3	1	84	1	0	0	0	0	1	0	0	0	11557	913	32	3	1825	3	PCDH9	13	67800669	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	14848484	67800669	47369209	231	22426											
LMO7	4008	genome.wustl.edu	37	chr13	76381620	76381620	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctctgtgcatcagtcagTttttactgcttcaggccctc	5	15	7	14	0	4	0	3	0	1	0	6	0	4	0	2	1	3	3	2	1	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:76381620T>A	ENST00000321797.8	+	8	1223	c.502T>A	c.(502-504)Ttt>Att	p.F168I	LMO7_ENST00000377534.3_Missense_Mutation_p.F453I|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000357063.3_Missense_Mutation_p.F453I|LMO7_ENST00000465261.2_Missense_Mutation_p.F168I|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	453	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CATCAGTCAGTTTTTACTGCT	0.428																																																	0													81	69	73					13																	76381620		1568	3582	5150	SO:0001583	missense	0			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"F-box only protein 20"	604362	"LIM domain only 7"	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.502T>A	13.37:g.76381620T>A	ENSP00000317802:p.Phe168Ile		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.F453I	ENST00000321797.8	37	c.1357		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.243147|4.243147	0.79912|0.79912	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526528|ENST00000447038	T;T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61;1.56|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.055575|.	0.64402|.	D|.	0.000001|.	T|T	0.72179|0.72179	0.3428|0.3428	M|M	0.64997|0.64997	1.995|1.995	0.41359|0.41359	D|D	0.987415|0.987415	D;D|.	0.63880|.	0.993;0.993|.	P;P|.	0.61328|.	0.851;0.887|.	T|T	0.71817|0.71817	-0.4478|-0.4478	10|5	0.87932|.	D|.	0|.	-21.6871|-21.6871	16.0034|16.0034	0.80327|0.80327	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	453;168|.	Q8WWI1;E9PLH4|.	LMO7_HUMAN;.|.	I|D	453;453;168;168;74|76	ENSP00000349571:F453I;ENSP00000366757:F453I;ENSP00000317802:F168I;ENSP00000433352:F168I;ENSP00000434201:F74I|.	ENSP00000317802:F168I|.	F|V	+|+	1|2	0|0	LMO7|LMO7	75279621|75279621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.194000|4.194000	0.58393|0.58393	2.179000|2.179000	0.69175|0.69175	0.533000|0.533000	0.62120|0.62120	TTT|GTT	LMO7	-	NULL	ENSG00000136153		0.428	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	-	0	34	0	T	NM_005358		76381620	1	tier1	-	no_errors	ENST00000357063	ensembl	human	known	74_37	missense	60.66	24	37	SNP	1.000	A	A	76381620	T	A	76381620	3	1	84	1	0	0	0	0	1	0	0	0	8885	1725	60	5	1399	5	LMO7	13	76381620	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	8580951	76381620	38788258	232	22427											
SLITRK5	26050	genome.wustl.edu	37	chr13	88330472	88330472	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaactaaacgttgagccGgactacctcgaagtgctgga	13	7	11	10	3	0	1	0	1	0	0	1	4	0	3	2	2	5	3	2	2	6	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:88330472G>T	ENST00000325089.6	+	2	3048	c.2829G>T	c.(2827-2829)ccG>ccT	p.P943P	SLITRK5_ENST00000400028.3_Silent_p.P702P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	943					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACGTTGAGCCGGACTACCTCG	0.468																																																	0													107	116	113					13																	88330472		2195	4275	6470	SO:0001819	synonymous_variant	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2829G>T	13.37:g.88330472G>T			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P943	ENST00000325089.6	37	c.2829	CCDS9465.1	13																																																																																			SLITRK5	-	NULL	ENSG00000165300		0.468	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3		0	39	0	G			88330472	1			no_errors	ENST00000325089	ensembl	human	known	74_37	silent	5.77	49	3	SNP	1.000	T	T	88330472	G	T	88330472	2	4	84	1	0	0	0	0	0	0	0	1	14791	1103	39	2		2	SLITRK5	13	88330472	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	11948852	88330472	26839406	233	22428											
TPP2	7174	genome.wustl.edu	37	chr13	103279451	103279451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagctcctggtgctcaaattCtttccatcaagattggtgat	9	15	8	9	0	3	2	2	1	1	1	5	2	5	2	2	2	2	2	2	2	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr13:103279451C>G	ENST00000376065.4	+	7	910	c.874C>G	c.(874-876)Ctt>Gtt	p.L292V	TPP2_ENST00000376052.3_Missense_Mutation_p.L292V	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	292	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGCTCAAATTCTTTCCATCAA	0.448																																																	0													134	131	132					13																	103279451		2203	4300	6503	SO:0001583	missense	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.874C>G	13.37:g.103279451C>G	ENSP00000365233:p.Leu292Val		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.L292V	ENST00000376065.4	37	c.874	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	C	7.379	0.628485	0.14257	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.22322	0.0538	N	0.03983	-0.305	0.80722	D	1	B	0.25272	0.122	B	0.27380	0.079	T	0.16394	-1.0404	10	0.02654	T	1	.	19.9474	0.97186	0.0:1.0:0.0:0.0	.	292	P29144	TPP2_HUMAN	V	292	ENSP00000365233:L292V;ENSP00000365220:L292V	ENSP00000365220:L292V	L	+	1	0	TPP2	102077452	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.603000	0.61105	2.774000	0.95407	0.655000	0.94253	CTT	TPP2	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000134900		0.448	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	-	0	41	0	C			103279451	1	tier1	-	no_errors	ENST00000376065	ensembl	human	known	74_37	missense	37.74	33	20	SNP	1.000	G	G	103279451	C	G	103279451	3	3	84	1	0	0	0	0	1	0	0	0	16460	913	32	5	900	5	TPP2	13	103279451	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	14948979	103279451	11890427	234	22429											
OR4K14	122740	genome.wustl.edu	37	chr14	20483046	20483046	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagtaaagtgcaagaagaAgatttgagccatacatcctc	16	8	8	9	0	0	4	0	1	0	3	2	4	1	4	3	0	3	2	3	0	6	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:20483046A>C	ENST00000305045.2	-	1	306	c.307T>G	c.(307-309)Ttc>Gtc	p.F103V		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCAAGAAGAAGATTTGAGCC	0.468																																																	0													105	100	101					14																	20483046		2203	4300	6503	SO:0001583	missense	0				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.307T>G	14.37:g.20483046A>C	ENSP00000305011:p.Phe103Val		Q6IEU1|Q96R71	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F103V	ENST00000305045.2	37	c.307	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	19.68	3.873136	0.72180	.	.	ENSG00000169484	ENST00000305045	T	0.00402	7.56	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.153873	0.30252	N	0.010053	T	0.01489	0.0048	M	0.92970	3.365	0.30276	N	0.791811	D	0.76494	0.999	D	0.68621	0.959	T	0.01566	-1.1323	10	0.72032	D	0.01	.	12.097	0.53761	1.0:0.0:0.0:0.0	.	103	Q8NGD5	OR4KE_HUMAN	V	103	ENSP00000305011:F103V	ENSP00000305011:F103V	F	-	1	0	OR4K14	19552886	0.124000	0.22315	0.999000	0.59377	0.985000	0.73830	4.156000	0.58138	1.695000	0.51148	0.413000	0.27773	TTC	OR4K14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000169484		0.468	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	-	0	40	0	A			20483046	-1	tier1	-	no_errors	ENST00000305045	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	C	C	20483046	A	C	20483046	3	2	84	1	0	0	0	0	1	0	0	0	11108	72	3	4	628	4	OR4K14	14	20483046	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09		20483046	86866494	235	22430											
FOXG1	2290	genome.wustl.edu	37	chr14	29237869	29237869	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttaagaccctctttgccaAgttttacgacgggactgtct	8	14	8	11	2	2	1	0	0	2	1	2	3	2	2	2	1	2	1	2	1	3	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:29237869A>C	ENST00000313071.4	+	1	1583	c.1384A>C	c.(1384-1386)Agt>Cgt	p.S462R	FOXG1_ENST00000382535.3_Missense_Mutation_p.S462R	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	462					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CTCTTTGCCAAGTTTTACGAC	0.557																																																	0													84	83	83					14																	29237869		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1384A>C	14.37:g.29237869A>C	ENSP00000339004:p.Ser462Arg		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S462R	ENST00000313071.4	37	c.1384	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580652	0.28180	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93488	-3.23;-3.23	4.14	4.14	0.48551	.	0.118050	0.53938	U	0.000046	D	0.85243	0.5652	N	0.14661	0.345	0.39860	D	0.973363	P	0.44578	0.838	B	0.39299	0.296	D	0.86489	0.1796	10	0.66056	D	0.02	.	9.0165	0.36173	0.911:0.0:0.089:0.0	.	462	P55316	FOXG1_HUMAN	R	462	ENSP00000371975:S462R;ENSP00000339004:S462R	ENSP00000339004:S462R	S	+	1	0	FOXG1	28307620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.591000	0.67536	1.633000	0.50488	0.402000	0.26972	AGT	FOXG1	-	NULL	ENSG00000176165		0.557	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	78	0	A			29237869	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	C	C	29237869	A	C	29237869	3	2	84	1	0	0	0	0	1	0	0	0	6031	72	3	4	1386	4	FOXG1	14	29237869	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	8754823	29237869	78111671	236	22431											
G2E3	55632	genome.wustl.edu	37	chr14	31058655	31058655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggttttctaatagaaGatatcaggaaggaagtgaat	15	14	10	2	0	2	3	1	1	1	2	2	5	2	5	0	3	0	1	0	3	8	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:31058655G>T	ENST00000206595.6	+	4	356	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	G2E3_ENST00000553504.1_Missense_Mutation_p.D98Y|G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.D22Y	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	68					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCTAATAGAAGATATCAGGAA	0.299																																																	0													109	119	116					14																	31058655		2203	4295	6498	SO:0001583	missense	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"Zinc fingers, PHD-type"	20338	protein-coding gene	gene with protein product	"PHD finger protein 7B"	611299	"KIAA1333"	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.202G>T	14.37:g.31058655G>T	ENSP00000206595:p.Asp68Tyr		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.D68Y	ENST00000206595.6	37	c.202	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604455	0.87157	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532;ENST00000555429	T;T;T;T;T;T;D	0.93763	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-3.28	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97487	1.0051	10	0.87932	D	0	-17.0659	19.2705	0.94008	0.0:0.0:1.0:0.0	.	22;68	B4DIF9;Q7L622	.;G2E3_HUMAN	Y	68;68;22;98;68;68;68	ENSP00000206595:D68Y;ENSP00000448745:D68Y;ENSP00000391068:D22Y;ENSP00000451653:D98Y;ENSP00000451147:D68Y;ENSP00000446615:D68Y;ENSP00000452275:D68Y	ENSP00000206595:D68Y	D	+	1	0	G2E3	30128406	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.927000	0.87577	2.642000	0.89623	0.591000	0.81541	GAT	G2E3	-	superfamily_Znf_FYVE_PHD	ENSG00000092140		0.299	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2		0	39	0	G	NM_017769		31058655	1			no_errors	ENST00000206595	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	31058655	G	T	31058655	3	4	84	1	0	0	0	0	1	0	0	0	6164	942	33	3	212	3	G2E3	14	31058655	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1820786	31058655	76290885	237	22432											
FOXA1	3169	genome.wustl.edu	37	chr14	38060617	38060617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacacaccttggtagtacgCcggctccagggctgagggct	8	8	13	12	2	0	1	0	1	0	0	1	1	1	1	3	4	2	5	3	4	3	4	rs141004703		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:38060617C>T	ENST00000250448.2	-	2	1433	c.1372G>A	c.(1372-1374)Gcg>Acg	p.A458T	FOXA1_ENST00000540786.1_Missense_Mutation_p.A425T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	458					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TGGTAGTACGCCGGCTCCAGG	0.612																																																	0													56	62	60					14																	38060617		2203	4300	6503	SO:0001583	missense	0			U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"Forkhead boxes"	5021	protein-coding gene	gene with protein product		602294	"hepatocyte nuclear factor 3, alpha"	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1372G>A	14.37:g.38060617C>T	ENSP00000250448:p.Ala458Thr		B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A458T	ENST00000250448.2	37	c.1372	CCDS9665.1	14	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402162	0.25291	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	T;T	0.39787	1.06;1.06	4.13	3.15	0.36227	Forkhead box protein, C-terminal (1);	0.253443	0.26514	N	0.023954	T	0.14270	0.0345	N	0.02202	-0.64	0.32755	N	0.505879	B	0.10296	0.003	B	0.08055	0.003	T	0.13548	-1.0505	10	0.18710	T	0.47	.	4.6339	0.12514	0.2947:0.5883:0.0:0.117	.	458	P55317	FOXA1_HUMAN	T	458;425	ENSP00000250448:A458T;ENSP00000440178:A425T	ENSP00000250448:A458T	A	-	1	0	FOXA1	37130368	0.944000	0.32072	1.000000	0.80357	0.985000	0.73830	2.061000	0.41403	2.128000	0.65567	0.400000	0.26472	GCG	FOXA1	-	pfam_Forkhead_box_C	ENSG00000129514		0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXA1	HGNC	protein_coding	OTTHUMT00000276735.1	-	0	47	0	C			38060617	-1	tier1	-	no_errors	ENST00000250448	ensembl	human	known	74_37	missense	43.48	13	10	SNP	0.996	T	T	38060617	C	T	38060617	3	4	84	1	0	0	0	0	1	0	0	0	6011	739	26	3	50	3	FOXA1	14	38060617	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	7001962	38060617	69288923	238	22433											
FSCB	84075	genome.wustl.edu	37	chr14	44975154	44975154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcagaatttcagccagaAgctctacagaaggagactct	14	7	11	9	0	3	4	1	0	2	4	3	6	3	4	1	2	3	2	1	2	4	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:44975154A>G	ENST00000340446.4	-	1	1328	c.1037T>C	c.(1036-1038)cTt>cCt	p.L346P	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	346	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTCAGCCAGAAGCTCTACAGA	0.502																																																	0													71	82	78					14																	44975154		2203	4300	6503	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1037T>C	14.37:g.44975154A>G	ENSP00000344579:p.Leu346Pro		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.L346P	ENST00000340446.4	37	c.1037	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	A	1.187	-0.636306	0.03557	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.10382	2.88	1.8	-0.24	0.13047	.	.	.	.	.	T	0.04272	0.0118	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43940	-0.9360	9	0.27082	T	0.32	4.9995	5.871	0.18802	0.3225:0.0:0.6775:0.0	.	346	Q5H9T9	FSCB_HUMAN	P	346	ENSP00000344579:L346P	ENSP00000344579:L346P	L	-	2	0	FSCB	44044904	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.821000	0.04452	-0.054000	0.13266	-0.495000	0.04643	CTT	FSCB	-	NULL	ENSG00000189139		0.502	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	-	0	67	0	A	NM_032135		44975154	-1	tier1	-	no_errors	ENST00000340446	ensembl	human	known	74_37	missense	31.03	40	18	SNP	0.009	G	G	44975154	A	G	44975154	3	3	84	1	0	0	0	0	1	0	0	0	6090	72	3	4	1444	4	FSCB	14	44975154	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	6914537	44975154	62374386	239	22434											
MDGA2	161357	genome.wustl.edu	37	chr14	47343308	47343308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagtatattttgtatttcTtgttgctgtactttgctttg	6	22	9	4	0	1	0	0	0	1	0	1	1	1	1	0	1	3	6	0	1	4	11			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:47343308T>C	ENST00000399232.2	-	13	2690	c.2326A>G	c.(2326-2328)Aga>Gga	p.R776G	MDGA2_ENST00000357362.3_Missense_Mutation_p.R547G|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845G|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000426342.1_Missense_Mutation_p.R547G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGTATTTCTTGTTGCTGTA	0.368																																																	0													170	162	165					14																	47343308		1843	4098	5941	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2326A>G	14.37:g.47343308T>C	ENSP00000382178:p.Arg776Gly		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R845G	ENST00000399232.2	37	c.2533		14	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819730	0.71028	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.37	4.15	0.48705	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.50627	U	0.000107	T	0.05364	0.0142	N	0.25647	0.755	0.80722	D	1	B;D	0.56521	0.178;0.976	B;D	0.65140	0.084;0.932	T	0.46925	-0.9156	10	0.72032	D	0.01	.	11.0016	0.47609	0.0:0.0:0.156:0.844	rs35704871	547;776	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	776;547;845;547	ENSP00000400011:R776G;ENSP00000405456:R547G;ENSP00000382178:R845G;ENSP00000349925:R547G	ENSP00000349925:R547G	R	-	1	2	MDGA2	46413058	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.251000	0.51453	2.024000	0.59613	0.383000	0.25322	AGA	MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000272781		0.368	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	63	0	T	NM_182830		47343308	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	C	C	47343308	T	C	47343308	3	2	84	1	0	0	0	0	1	0	0	0	9445	1617	56	4	564	4	MDGA2	14	47343308	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	2368154	47343308	60006232	240	22435											
NID2	22795	genome.wustl.edu	37	chr14	52481849	52481849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacaccagcagaagtcgCtctttccgtggcactgcagg	9	7	10	15	2	1	1	0	0	1	1	3	1	2	1	3	2	2	4	3	2	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:52481849C>T	ENST00000216286.5	-	15	3172	c.3173G>A	c.(3172-3174)aGc>aAc	p.S1058N	NID2_ENST00000541773.1_Missense_Mutation_p.S957N	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1058	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAGAAGTCGCTCTTTCCGTG	0.657																																																	0													52	44	47					14																	52481849		2203	4300	6503	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3173G>A	14.37:g.52481849C>T	ENSP00000216286:p.Ser1058Asn		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.S1058N	ENST00000216286.5	37	c.3173	CCDS9706.1	14	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749510	0.89753	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.63096	-0.02;-0.02	5.67	5.67	0.87782	Thyroglobulin type-1 (6);	0.078574	0.85682	D	0.000000	T	0.73806	0.3634	L	0.52364	1.645	0.40385	D	0.979482	D;D;D;D	0.76494	0.994;0.975;0.998;0.999	D;P;D;D	0.74674	0.948;0.778;0.984;0.984	T	0.67011	-0.5778	10	0.16896	T	0.51	.	19.3726	0.94495	0.0:1.0:0.0:0.0	.	652;957;1060;1058	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	N	1058;652;957;1060	ENSP00000216286:S1058N;ENSP00000443730:S957N	ENSP00000216286:S1058N	S	-	2	0	NID2	51551599	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.139000	0.50577	2.680000	0.91292	0.655000	0.94253	AGC	NID2	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000087303		0.657	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	-	0	52	0	C			52481849	-1	tier1	-	no_errors	ENST00000216286	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	T	T	52481849	C	T	52481849	3	4	84	1	0	0	0	0	1	0	0	0	10454	797	28	3	986	3	NID2	14	52481849	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	5138541	52481849	54867691	241	22436											
DLGAP5	9787	genome.wustl.edu	37	chr14	55646413	55646413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctttccttctggttcGttttctaaaacaacaataaa	12	14	5	10	1	2	0	0	0	2	0	4	0	3	0	2	2	2	3	2	2	6	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:55646413G>A	ENST00000247191.2	-	7	924	c.708C>T	c.(706-708)aaC>aaT	p.N236N	DLGAP5_ENST00000395425.2_Silent_p.N236N	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	236					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CTTCTGGTTCGTTTTCTAAAA	0.323																																																	0													90	82	85					14																	55646413		2202	4299	6501	SO:0001819	synonymous_variant	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.708C>T	14.37:g.55646413G>A			A8MTM6|B4DRM8|Q86T11|Q8NG58	Silent	SNP	pfam_GKAP	p.N236	ENST00000247191.2	37	c.708	CCDS9723.1	14																																																																																			DLGAP5	-	NULL	ENSG00000126787		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2		0	54	0	G	NM_014750		55646413	-1			no_errors	ENST00000247191	ensembl	human	known	74_37	silent	5.00	57	3	SNP	0.957	A	A	55646413	G	A	55646413	2	1	84	1	0	0	0	0	0	0	0	1	4577	1136	40	1		1	DLGAP5	14	55646413	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3164564	55646413	51703127	242	22437											
MUDENG	55745	genome.wustl.edu	37	chr14	57741320	57741320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaggattttctttattcaGgtcaaaaaaatgactctgag	14	14	7	6	0	4	2	2	2	2	0	4	3	4	3	0	2	1	0	0	2	5	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:57741320G>A	ENST00000261558.3	+	2	839	c.433G>A	c.(433-435)Ggt>Agt	p.G145S	AP5M1_ENST00000431972.2_Missense_Mutation_p.G159S	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	145					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											TCTTTATTCAGGTCAAAAAAA	0.403																																																	0													55	59	58					14																	57741320		2203	4299	6502	SO:0001583	missense	0			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.433G>A	14.37:g.57741320G>A	ENSP00000261558:p.Gly145Ser		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	p.G145S	ENST00000261558.3	37	c.433	CCDS9729.1	14	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321450	0.23994	.	.	ENSG00000053770	ENST00000261558;ENST00000556995;ENST00000431972	T;T	0.29142	1.59;1.58	5.78	-2.83	0.05769	.	0.322791	0.41001	N	0.000964	T	0.10294	0.0252	N	0.12182	0.205	0.28333	N	0.921698	B;B	0.31193	0.0;0.312	B;B	0.31946	0.0;0.138	T	0.33828	-0.9853	10	0.07482	T	0.82	.	3.6611	0.08238	0.3952:0.0991:0.4053:0.1004	.	145;145	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	S	145;42;159	ENSP00000261558:G145S;ENSP00000390531:G159S	ENSP00000261558:G145S	G	+	1	0	MUDENG	56811073	0.349000	0.24870	0.010000	0.14722	0.879000	0.50718	0.639000	0.24690	-0.486000	0.06744	-0.282000	0.10007	GGT	AP5M1	-	NULL	ENSG00000053770		0.403	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5M1	HGNC	protein_coding	OTTHUMT00000276922.1	-	0	36	0	G	NM_018229		57741320	1	tier1	-	no_errors	ENST00000261558	ensembl	human	known	74_37	missense	42.22	26	19	SNP	0.052	A	A	57741320	G	A	57741320	3	1	84	1	0	0	0	0	1	0	0	0	10021	1000	35	3	439	3	MUDENG	14	57741320	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	2094907	57741320	49608220	243	22438											
SLC35F4	341880	genome.wustl.edu	37	chr14	58060677	58060677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatctgttctgtctctcaActctgtgtccacaaactcct	7	15	5	14	0	5	1	1	1	4	0	8	1	7	1	2	0	2	1	2	0	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:58060677A>G	ENST00000339762.6	-	2	376	c.377T>C	c.(376-378)gTt>gCt	p.V126A	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Missense_Mutation_p.V90A|SLC35F4_ENST00000557430.1_5'Flank			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	126					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGTCTCTCAACTCTGTGTCC	0.438																																																	0													99	99	99					14																	58060677		1965	4147	6112	SO:0001583	missense	0					14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"Solute carriers"	19845	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 36"	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.377T>C	14.37:g.58060677A>G	ENSP00000342518:p.Val126Ala		A6NDQ3	Missense_Mutation	SNP	pfam_DMT,pfam_SLC35_F1/F2/F6	p.V126A	ENST00000339762.6	37	c.377		14	.	.	.	.	.	.	.	.	.	.	A	3.546	-0.092766	0.07053	.	.	ENSG00000151812	ENST00000556826;ENST00000339762	T;T	0.50277	0.79;0.75	5.83	2.33	0.28932	.	1.005080	0.07997	N	0.988131	T	0.27489	0.0675	N	0.14661	0.345	0.24034	N	0.996107	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	10	0.14656	T	0.56	-4.9329	6.2101	0.20623	0.6144:0.2098:0.1759:0.0	.	126	A4IF30	S35F4_HUMAN	A	90;126	ENSP00000452086:V90A;ENSP00000342518:V126A	ENSP00000342518:V126A	V	-	2	0	SLC35F4	57130430	0.496000	0.26059	0.142000	0.22268	0.535000	0.34838	0.953000	0.29162	0.491000	0.27793	0.477000	0.44152	GTT	SLC35F4	-	NULL	ENSG00000151812		0.438	SLC35F4-201	KNOWN	basic	protein_coding	SLC35F4	HGNC	protein_coding		-	0	54	0	A	XM_292260		58060677	-1	tier1	-	no_errors	ENST00000339762	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.326	G	G	58060677	A	G	58060677	3	3	84	1	0	0	0	0	1	0	0	0	14636	43	2	4	1216	4	SLC35F4	14	58060677	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	319357	58060677	49288863	244	22439											
PLEKHH1	57475	genome.wustl.edu	37	chr14	68045937	68045937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggaagccaggccatcgcGcatggaagtggtgtccatcc	8	6	15	12	3	0	0	0	0	0	0	3	2	2	2	4	4	1	1	4	4	2	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:68045937G>A	ENST00000329153.5	+	21	3068	c.2936G>A	c.(2935-2937)cGc>cAc	p.R979H	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	979	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGGCCATCGCGCATGGAAGTG	0.602																																																	0													69	76	74					14																	68045937		2109	4218	6327	SO:0001583	missense	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2936G>A	14.37:g.68045937G>A	ENSP00000330278:p.Arg979His		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.R979H	ENST00000329153.5	37	c.2936	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668723	0.67814	.	.	ENSG00000054690	ENST00000329153	D	0.92249	-3.0	5.27	4.38	0.52667	MyTH4 domain (3);	0.052697	0.85682	N	0.000000	D	0.92325	0.7565	M	0.80422	2.495	0.80722	D	1	B	0.16166	0.016	B	0.27796	0.083	D	0.90932	0.4791	10	0.87932	D	0	.	13.809	0.63250	0.0732:0.0:0.9268:0.0	.	979	Q9ULM0	PKHH1_HUMAN	H	979	ENSP00000330278:R979H	ENSP00000330278:R979H	R	+	2	0	PLEKHH1	67115690	1.000000	0.71417	0.995000	0.50966	0.738000	0.42128	7.432000	0.80349	1.450000	0.47717	0.655000	0.94253	CGC	PLEKHH1	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000054690		0.602	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	-	0	73	0	G	XM_031054		68045937	1	tier1	-	no_errors	ENST00000329153	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.999	A	A	68045937	G	A	68045937	3	1	84	1	0	0	0	0	1	0	0	0	12115	1087	38	1	3014	1	PLEKHH1	14	68045937	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9985260	68045937	39303603	245	22440											
SPTLC2	9517	genome.wustl.edu	37	chr14	77978710	77978710	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacgggaatacttcagctGcaataggtccccaacttcat	12	10	8	11	1	2	1	2	1	0	0	3	2	3	2	2	2	4	2	2	2	5	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:77978710G>A	ENST00000216484.2	-	12	1799	c.1606C>T	c.(1606-1608)Cag>Tag	p.Q536*		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	536					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	TACTTCAGCTGCAATAGGTCC	0.483																																																	0													139	127	131					14																	77978710		2203	4300	6503	SO:0001587	stop_gained	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1606C>T	14.37:g.77978710G>A	ENSP00000216484:p.Gln536*		Q16685	Nonsense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.Q536*	ENST00000216484.2	37	c.1606	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.648687	0.97734	.	.	ENSG00000100596	ENST00000216484	.	.	.	5.56	5.56	0.83823	.	0.111999	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-5.8256	15.2113	0.73225	0.0:0.0:0.8587:0.1413	.	.	.	.	X	536	.	ENSP00000216484:Q536X	Q	-	1	0	SPTLC2	77048463	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	6.453000	0.73488	2.617000	0.88574	0.644000	0.83932	CAG	SPTLC2	-	superfamily_PyrdxlP-dep_Trfase	ENSG00000100596		0.483	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1		0	68	0	G	NM_004863		77978710	-1			no_errors	ENST00000216484	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	A	A	77978710	G	A	77978710	4	1	84	1	0	0	0	0	0	1	0	0	15171	1328	46	3	86	3	SPTLC2	14	77978710	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9932773	77978710	29370830	246	22441											
FLRT2	23768	genome.wustl.edu	37	chr14	86088246	86088246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcacgggctgctcttGcccagctcttgaagcttgaa	7	12	9	13	1	3	2	1	2	2	0	3	2	3	2	2	1	4	4	2	1	2	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:86088246G>T	ENST00000330753.4	+	2	1155	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S	FLRT2_ENST00000554746.1_Missense_Mutation_p.A130S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	130					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGCTGCTCTTGCCCAGCTCTT	0.507																																																	0													72	74	73					14																	86088246		2203	4300	6503	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.388G>T	14.37:g.86088246G>T	ENSP00000332879:p.Ala130Ser		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.A130S	ENST00000330753.4	37	c.388	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116633	0.37339	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.56275	0.47;0.47	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	N	0.25144	0.715	0.80722	D	1	D	0.55605	0.972	P	0.48488	0.579	T	0.27297	-1.0078	10	0.08599	T	0.76	-24.7084	19.9036	0.96999	0.0:0.0:1.0:0.0	.	130	O43155	FLRT2_HUMAN	S	130	ENSP00000332879:A130S;ENSP00000451050:A130S	ENSP00000332879:A130S	A	+	1	0	FLRT2	85157999	1.000000	0.71417	0.962000	0.40283	0.987000	0.75469	8.061000	0.89467	2.706000	0.92434	0.655000	0.94253	GCC	FLRT2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185070		0.507	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0	19	0	G			86088246	1	tier1	-	no_errors	ENST00000330753	ensembl	human	known	74_37	missense	41.18	10	7	SNP	1.000	T	T	86088246	G	T	86088246	3	4	84	1	0	0	0	0	1	0	0	0	5961	1319	46	3	390	3	FLRT2	14	86088246	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	8109536	86088246	21261294	247	22442											
C14orf68	283600	genome.wustl.edu	37	chr14	100793573	100793573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgtgtgcacggtgtccCtggtatcttccgtgtctttt	2	16	11	12	3	2	0	0	0	2	0	4	0	4	0	3	2	2	2	3	2	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:100793573C>A	ENST00000361529.3	+	4	271	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	65					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						CACGGTGTCCCTGGTATCTTC	0.662																																					GBM(11;1289 1351)												0													129	127	128					14																	100793573		2203	4300	6503	SO:0001583	missense	0				CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"Solute carriers"	20115	protein-coding gene	gene with protein product		609911	"chromosome 14 open reading frame 68"	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.193C>A	14.37:g.100793573C>A	ENSP00000354886:p.Leu65Met		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L65M	ENST00000361529.3	37	c.193	CCDS9959.1	14	.	.	.	.	.	.	.	.	.	.	C	7.651	0.682914	0.14907	.	.	ENSG00000140107	ENST00000361529	T	0.80033	-1.33	4.85	1.98	0.26296	Mitochondrial carrier domain (2);	0.512398	0.21308	N	0.076692	T	0.68988	0.3061	L	0.33753	1.03	0.80722	D	1	B	0.26147	0.143	B	0.33121	0.158	T	0.60078	-0.7333	10	0.36615	T	0.2	.	5.6032	0.17365	0.0:0.5527:0.1361:0.3112	.	65	Q6Q0C1	S2547_HUMAN	M	65	ENSP00000354886:L65M	ENSP00000354886:L65M	L	+	1	2	SLC25A47	99863326	0.126000	0.22350	0.998000	0.56505	0.234000	0.25298	0.557000	0.23454	0.661000	0.30985	0.485000	0.47835	CTG	SLC25A47	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000140107		0.662	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A47	HGNC	protein_coding	OTTHUMT00000414231.1	-	0	37	0	C			100793573	1	tier1	-	no_errors	ENST00000361529	ensembl	human	known	74_37	missense	46.51	23	20	SNP	0.919	A	A	100793573	C	A	100793573	3	1	84	1	0	0	0	0	1	0	0	0	1783	680	24	3	207	3	C14orf68	14	100793573	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	14705327	100793573	6555967	248	22443											
RTL1	388015	genome.wustl.edu	37	chr14	101348475	101348475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggaggcgtgcagggccGtgccggtgacgccggtttcc	4	7	18	12	5	1	1	1	1	0	0	2	2	2	2	4	5	2	2	4	5	0	1	rs527721034		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:101348475G>A	ENST00000534062.1	-	1	2709	c.2651C>T	c.(2650-2652)aCg>aTg	p.T884M	MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	884					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTGCAGGGCCGTGCCGGTGAC	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		17149	0		0	False		,,,				2504	0																0													27	27	27					14																	101348475		692	1591	2283	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2651C>T	14.37:g.101348475G>A	ENSP00000435342:p.Thr884Met		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.T884M	ENST00000534062.1	37	c.2651	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	G	2.641	-0.284124	0.05642	.	.	ENSG00000254656	ENST00000534062	T	0.43688	0.94	3.33	0.287	0.15714	.	0.472552	0.15899	N	0.239156	T	0.21347	0.0514	L	0.27053	0.805	0.09310	N	1	B	0.30211	0.273	B	0.17098	0.017	T	0.09862	-1.0655	10	0.44086	T	0.13	.	2.8602	0.05584	0.2219:0.0:0.391:0.3872	.	884	E9PKS8	.	M	884	ENSP00000435342:T884M	ENSP00000435342:T884M	T	-	2	0	RTL1	100418228	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.083000	0.30815	0.060000	0.16281	-0.291000	0.09656	ACG	RTL1	-	NULL	ENSG00000254656		0.612	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0	30	0	G	NM_001134888		101348475	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	45.24	23	19	SNP	0.000	A	A	101348475	G	A	101348475	3	1	84	1	0	0	0	0	1	0	0	0	13769	1145	40	1	1429	1	RTL1	14	101348475	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	554902	101348475	6001065	249	22444											
KIF26A	26153	genome.wustl.edu	37	chr14	104641616	104641616	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggccctccaagggtcccCgagacgcagaccacttccgc	8	4	10	19	4	0	2	0	0	0	2	3	3	3	2	7	2	0	1	7	2	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr14:104641616C>T	ENST00000423312.2	+	12	2491	c.2491C>T	c.(2491-2493)Cga>Tga	p.R831*	KIF26A_ENST00000315264.7_Nonsense_Mutation_p.R692*	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	831					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAAGGGTCCCCGAGACGCAGA	0.682																																																	0													15	18	17					14																	104641616		2032	4172	6204	SO:0001587	stop_gained	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2491C>T	14.37:g.104641616C>T	ENSP00000388241:p.Arg831*		Q8TAZ7|Q96GK3|Q9UFL3	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R831*	ENST00000423312.2	37	c.2491	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.897937	0.98551	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	.	.	.	3.28	0.109	0.14578	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	0.3276	0.00313	0.2525:0.2846:0.2513:0.2115	.	.	.	.	X	831;692	.	ENSP00000325452:R692X	R	+	1	2	KIF26A	103711369	0.000000	0.05858	0.040000	0.18447	0.425000	0.31504	0.046000	0.14035	0.168000	0.19655	0.462000	0.41574	CGA	KIF26A	-	NULL	ENSG00000066735		0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	-	0	31	0	C			104641616	1	tier1	-	no_errors	ENST00000423312	ensembl	human	known	74_37	nonsense	41.67	13	10	SNP	0.287	T	T	104641616	C	T	104641616	4	4	84	1	0	0	0	0	0	1	0	0	8321	644	23	1	2537	1	KIF26A	14	104641616	Nonsense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	3293141	104641616	2707924	250	22445											
MKRN3	7681	genome.wustl.edu	37	chr15	23811324	23811324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggccactgagggtggcgTttcgccgcctggggcctctg	3	9	17	12	3	1	1	0	1	1	0	2	2	1	1	4	5	0	1	4	5	0	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:23811324T>G	ENST00000314520.3	+	1	871	c.395T>G	c.(394-396)gTt>gGt	p.V132G	MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	132					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAGGGTGGCGTTTCGCCGCCT	0.627																																																	0													43	46	45					15																	23811324		2203	4300	6503	SO:0001583	missense	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.395T>G	15.37:g.23811324T>G	ENSP00000313881:p.Val132Gly			Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.V132G	ENST00000314520.3	37	c.395	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	T	7.278	0.608526	0.14002	.	.	ENSG00000179455	ENST00000314520	T	0.32023	1.47	3.47	-6.93	0.01638	.	0.883403	0.09686	N	0.769066	T	0.07908	0.0198	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.33141	T	0.24	.	0.5758	0.00703	0.297:0.3117:0.15:0.2413	.	132	Q13064	MKRN3_HUMAN	G	132	ENSP00000313881:V132G	ENSP00000313881:V132G	V	+	2	0	MKRN3	21362417	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.009000	0.12765	-1.871000	0.01138	-1.293000	0.01348	GTT	MKRN3	-	NULL	ENSG00000179455		0.627	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0	31	0	T	NM_005664		23811324	1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.000	G	G	23811324	T	G	23811324	3	3	84	1	0	0	0	0	1	0	0	0	9646	1725	60	4	397	4	MKRN3	15	23811324	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09		23811324	78720068	251	22446											
SNRPN	6638	genome.wustl.edu	37	chr15	25220656	25220656	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgagttcagaaagatcaAgtaaggctgatttgggcaaa	15	10	12	4	0	2	5	2	3	0	2	2	5	2	5	0	2	0	4	0	2	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:25220656A>C	ENST00000400100.1	+	8	1045	c.155A>C	c.(154-156)aAg>aCg	p.K52T	SNRPN_ENST00000400098.1_Splice_Site_p.K52T|SNRPN_ENST00000400097.1_Splice_Site_p.K52T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Splice_Site_p.K56T|SNRPN_ENST00000390687.4_Splice_Site_p.K52T|SNRPN_ENST00000346403.6_Splice_Site_p.K52T|SNRPN_ENST00000554227.2_Splice_Site_p.K56T|SNRPN_ENST00000577565.1_Splice_Site_p.K52T|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	52					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		AGAAAGATCAAGTAAGGCTGA	0.463									Prader-Willi syndrome																																								0													126	122	123					15																	25220656		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.155+1A>C	15.37:g.25220656A>C			B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.K56T	ENST00000400100.1	37	c.167	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	A	17.77	3.471437	0.63737	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	3.38	3.38	0.38709	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.055265	0.64402	D	0.000001	T	0.63355	0.2504	M	0.73319	2.225	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.70716	0.97;0.97	T	0.66952	-0.5793	10	0.72032	D	0.01	-8.2681	10.3796	0.44104	1.0:0.0:0.0:0.0	.	56;52	B3KVR1;P63162	.;RSMN_HUMAN	T	52;52;52;56;52;56	ENSP00000382972:K52T;ENSP00000382970:K52T;ENSP00000382969:K52T;ENSP00000452342:K56T;ENSP00000375105:K52T;ENSP00000408767:K56T	ENSP00000375105:K52T	K	+	2	0	SNRPN	22771749	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.533000	0.73829	1.760000	0.52011	0.443000	0.29094	AAG	SNRPN	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.463	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0	64	0	A	NM_003097	Missense_Mutation	25220656	1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	missense	21.05	105	28	SNP	1.000	C	C	25220656	A	C	25220656	5	2	84	1	0	0	0	0	0	0	1	0	14915	86	3	4	161	4	SNRPN	15	25220656	Splice_Site	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	1409332	25220656	77310736	252	22447											
SNRPN	6638	genome.wustl.edu	37	chr15	25223574	25223574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccacctcccccaggaatgCgtccaccaagaccttagcat	10	7	7	17	1	0	1	0	0	0	1	3	2	3	2	7	1	2	1	7	1	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:25223574C>T	ENST00000400100.1	+	13	1596	c.706C>T	c.(706-708)Cgt>Tgt	p.R236C	SNRPN_ENST00000400098.1_Missense_Mutation_p.R236C|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400097.1_Missense_Mutation_p.R236C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Missense_Mutation_p.R240C|SNRPN_ENST00000390687.4_Missense_Mutation_p.R236C|SNRPN_ENST00000346403.6_Missense_Mutation_p.R236C|SNRPN_ENST00000554227.2_Missense_Mutation_p.R240C|SNRPN_ENST00000577565.1_Missense_Mutation_p.R236C|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	236	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCCAGGAATGCGTCCACCAAG	0.458									Prader-Willi syndrome																																								0													276	263	267					15																	25223574		1914	4129	6043	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.706C>T	15.37:g.25223574C>T	ENSP00000382972:p.Arg236Cys		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.R240C	ENST00000400100.1	37	c.718	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179871	0.38511	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	4.6	0.611	0.17586	.	0.254282	0.38164	N	0.001793	T	0.17704	0.0425	N	0.04297	-0.235	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.03641	-1.1017	10	0.41790	T	0.15	-1.1563	6.8565	0.24044	0.0:0.6158:0.0:0.3842	.	240;236	B3KVR1;P63162	.;RSMN_HUMAN	C	236;236;236;240;236;240	ENSP00000382972:R236C;ENSP00000382970:R236C;ENSP00000382969:R236C;ENSP00000452342:R240C;ENSP00000375105:R236C;ENSP00000408767:R240C	ENSP00000375105:R236C	R	+	1	0	SNRPN	22774667	1.000000	0.71417	0.782000	0.31804	0.994000	0.84299	3.545000	0.53648	0.034000	0.15491	0.591000	0.81541	CGT	SNRPN	-	pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.458	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0	41	0	C	NM_003097		25223574	1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.995	T	T	25223574	C	T	25223574	3	4	84	1	0	0	0	0	1	0	0	0	14915	768	27	1	732	1	SNRPN	15	25223574	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2918	25223574	77307818	253	22448											
OCA2	4948	genome.wustl.edu	37	chr15	28096615	28096615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcaggttcaggagcaCgggaatctgtggaggaagag	10	7	18	6	1	3	1	2	0	1	1	3	5	3	5	0	6	1	3	0	6	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:28096615C>T	ENST00000354638.3	-	22	2406	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	OCA2_ENST00000353809.5_Missense_Mutation_p.V727M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	751					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.V751M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTCAGGAGCACGGGAATCTGT	0.572									Oculocutaneous Albinism																																								1	Substitution - Missense(1)	endometrium(1)											58	44	49					15																	28096615		2199	4300	6499	SO:0001583	missense	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2251G>A	15.37:g.28096615C>T	ENSP00000346659:p.Val751Met		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.V751M	ENST00000354638.3	37	c.2251	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403974	0.83230	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	T;T	0.80824	-1.42;-1.42	4.64	4.64	0.57946	.	0.134244	0.49916	D	0.000140	D	0.86289	0.5897	L	0.51914	1.62	0.80722	D	1	D;P	0.76494	0.999;0.878	D;P	0.70487	0.969;0.68	D	0.87726	0.2576	10	0.72032	D	0.01	-23.4963	15.3872	0.74711	0.0:1.0:0.0:0.0	.	727;751	Q04671-2;Q04671	.;P_HUMAN	M	751;727	ENSP00000346659:V751M;ENSP00000261276:V727M	ENSP00000261276:V727M	V	-	1	0	OCA2	25770210	1.000000	0.71417	0.955000	0.39395	0.948000	0.59901	6.255000	0.72466	2.282000	0.76494	0.650000	0.86243	GTG	OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.572	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1		0	36	0	C	NM_000275		28096615	-1			no_errors	ENST00000354638	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.999	T	T	28096615	C	T	28096615	3	4	84	1	0	0	0	0	1	0	0	0	10854	536	19	1	277	1	OCA2	15	28096615	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2873041	28096615	74434777	254	22449											
TRPM1	4308	genome.wustl.edu	37	chr15	31360147	31360147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccttgatcaggcctttcCcaaagacttgtttcagcttg	8	13	8	12	0	2	2	2	1	0	1	3	2	3	2	3	1	2	2	3	1	1	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:31360147C>A	ENST00000256552.6	-	5	575	c.428G>T	c.(427-429)gGg>gTg	p.G143V	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.G160V|TRPM1_ENST00000397795.2_Missense_Mutation_p.G121V	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGGCCTTTCCCAAAGACTTG	0.532																																																	0													109	108	109					15																	31360147		1890	4123	6013	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"Voltage-gated ion channels / Transient receptor potential cation channels"	7146	protein-coding gene	gene with protein product		603576	"melastatin 1"	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.428G>T	15.37:g.31360147C>A	ENSP00000256552:p.Gly143Val			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.G160V	ENST00000256552.6	37	c.479	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	29.7	5.032333	0.93575	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.02974	4.09;4.09;4.09	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	L	0.57536	1.79	0.80722	D	1	D;P	0.71674	0.998;0.609	D;B	0.72075	0.976;0.436	T	0.00016	-1.2389	10	0.87932	D	0	-33.6838	20.3397	0.98756	0.0:1.0:0.0:0.0	.	121;121	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	V	121;160;143;121	ENSP00000380897:G121V;ENSP00000437849:G160V;ENSP00000256552:G143V	ENSP00000256552:G143V	G	-	2	0	TRPM1	29147439	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.798000	0.85924	2.803000	0.96430	0.585000	0.79938	GGG	TRPM1	-	NULL	ENSG00000134160		0.532	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0	50	0	C	NM_002420		31360147	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	17.43	90	19	SNP	1.000	A	A	31360147	C	A	31360147	3	1	84	1	0	0	0	0	1	0	0	0	16633	623	22	3	4545	3	TRPM1	15	31360147	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	3263532	31360147	71171245	255	22450											
AQR	9716	genome.wustl.edu	37	chr15	35159753	35159753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccactgccctggttcgtaCcagagaaagaagaatatagt	13	8	10	10	1	0	3	0	0	0	3	1	4	0	3	3	1	2	2	3	1	6	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:35159753C>T	ENST00000156471.5	-	32	4051	c.3826G>A	c.(3826-3828)Gta>Ata	p.V1276I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1276					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CTGGTTCGTACCAGAGAAAGA	0.348																																																	0													104	100	101					15																	35159753		1833	4080	5913	SO:0001583	missense	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 164"	610548	"aquarius homolog (mouse)"			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3826G>A	15.37:g.35159753C>T	ENSP00000156471:p.Val1276Ile		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.V1276I	ENST00000156471.5	37	c.3826	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.494536	0.96339	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.96651	-4.08	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98896	0.9626	H	0.97962	4.115	0.80722	D	1	D	0.57571	0.98	P	0.61328	0.887	D	0.98997	1.0810	10	0.87932	D	0	-21.3252	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1276	O60306	AQR_HUMAN	I	1276	ENSP00000156471:V1276I	ENSP00000156471:V1276I	V	-	1	0	AQR	32947045	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	GTA	AQR	-	superfamily_P-loop_NTPase	ENSG00000021776		0.348	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	-	0	64	0	C	NM_014691		35159753	-1	tier1	-	no_errors	ENST00000156471	ensembl	human	known	74_37	missense	18.10	95	21	SNP	1.000	T	T	35159753	C	T	35159753	3	4	84	1	0	0	0	0	1	0	0	0	835	507	18	3	647	3	AQR	15	35159753	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	3799606	35159753	67371639	256	22451											
MAP1A	4130	genome.wustl.edu	37	chr15	43817807	43817807	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctggagcacaaggaggTggtagagccgaaggatacag	14	5	15	7	1	1	1	0	0	1	1	1	5	1	4	1	5	4	2	1	5	5	2	rs148851436	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:43817807T>A	ENST00000300231.5	+	4	4586	c.4136T>A	c.(4135-4137)gTg>gAg	p.V1379E	MAP1A_ENST00000399453.1_Missense_Mutation_p.V1379E|MAP1A_ENST00000382031.1_Missense_Mutation_p.V1617E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1379					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CACAAGGAGGTGGTAGAGCCG	0.458																																																	0													100	96	97					15																	43817807		1909	4130	6039	SO:0001583	missense	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.4136T>A	15.37:g.43817807T>A	ENSP00000300231:p.Val1379Glu		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.V1379E	ENST00000300231.5	37	c.4136	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	T	8.616	0.890335	0.17613	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.20069	4.42;2.1;2.1	3.65	-4.95	0.03048	.	.	.	.	.	T	0.13457	0.0326	M	0.63428	1.95	0.09310	N	1	B	0.26195	0.144	B	0.24269	0.052	T	0.45906	-0.9229	9	0.02654	T	1	-0.0211	4.4366	0.11554	0.1412:0.5253:0.1432:0.1903	.	1379	P78559	MAP1A_HUMAN	E	1617;1379;1379	ENSP00000371462:V1617E;ENSP00000382380:V1379E;ENSP00000300231:V1379E	ENSP00000300231:V1379E	V	+	2	0	MAP1A	41605099	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	0.013000	0.13310	-1.089000	0.03073	0.460000	0.39030	GTG	MAP1A	-	NULL	ENSG00000166963		0.458	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5		0	25	0	T	NM_002373		43817807	1			no_errors	ENST00000399453	ensembl	human	known	74_37	missense	7.55	47	4	SNP	0.000	A	A	43817807	T	A	43817807	3	1	84	1	0	0	0	0	1	0	0	0	9265	1696	59	5	4138	5	MAP1A	15	43817807	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	8658054	43817807	58713585	257	22452											
UNC13C	440279	genome.wustl.edu	37	chr15	54307240	54307240	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgactcagagagctacgacTtaactcaagatgacaattct	15	10	7	9	1	3	4	2	2	1	2	3	6	3	4	0	0	3	1	0	0	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:54307240T>G	ENST00000260323.11	+	1	2140	c.2140T>G	c.(2140-2142)Tta>Gta	p.L714V	UNC13C_ENST00000537900.1_Missense_Mutation_p.L714V|UNC13C_ENST00000545554.1_Missense_Mutation_p.L714V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	714					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGCTACGACTTAACTCAAGA	0.413																																																	0													36	34	35					15																	54307240		1890	4121	6011	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2140T>G	15.37:g.54307240T>G	ENSP00000260323:p.Leu714Val		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L714V	ENST00000260323.11	37	c.2140	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	7.996	0.754345	0.15778	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80393	-1.37;-1.37;-1.37	5.79	2.21	0.28008	.	.	.	.	.	T	0.65893	0.2735	N	0.24115	0.695	0.24703	N	0.993249	B	0.02656	0.0	B	0.08055	0.003	T	0.54754	-0.8246	9	0.46703	T	0.11	.	5.9368	0.19171	0.0:0.1491:0.1411:0.7098	.	714	Q8NB66	UN13C_HUMAN	V	714	ENSP00000260323:L714V;ENSP00000438156:L714V;ENSP00000442569:L714V	ENSP00000260323:L714V	L	+	1	2	UNC13C	52094532	1.000000	0.71417	0.933000	0.37362	0.941000	0.58515	1.992000	0.40737	0.439000	0.26476	0.528000	0.53228	TTA	UNC13C	-	NULL	ENSG00000137766		0.413	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0	15	0	T	NM_173166		54307240	1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.985	G	G	54307240	T	G	54307240	3	3	84	1	0	0	0	0	1	0	0	0	17035	1606	56	4	2142	4	UNC13C	15	54307240	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	10489433	54307240	48224152	258	22453											
HERC1	8925	genome.wustl.edu	37	chr15	63991149	63991149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtctctgctatgtttcagGcgagcccaagagtcactcag	9	10	10	12	1	4	1	3	0	1	1	5	2	4	1	1	1	2	2	1	1	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:63991149G>A	ENST00000443617.2	-	26	4770	c.4683C>T	c.(4681-4683)cgC>cgT	p.R1561R	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1561					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATGTTTCAGGCGAGCCCAAG	0.393																																																	0													168	162	164					15																	63991149		1884	4111	5995	SO:0001819	synonymous_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4683C>T	15.37:g.63991149G>A			Q8IW65	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.R1561	ENST00000443617.2	37	c.4683	CCDS45277.1	15																																																																																			HERC1	-	NULL	ENSG00000103657		0.393	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	34	0	G	NM_003922		63991149	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	silent	11.36	39	5	SNP	1.000	A	A	63991149	G	A	63991149	2	1	84	1	0	0	0	0	0	0	0	1	7084	1190	42	3		3	HERC1	15	63991149	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9683909	63991149	38540243	259	22454											
HERC1	8925	genome.wustl.edu	37	chr15	64027049	64027049	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagtttcaattaccacCtaatatcaaaagagaaaagt	20	10	5	6	0	2	1	2	0	0	1	2	3	2	1	2	0	1	1	2	0	10	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:64027049C>G	ENST00000443617.2	-	13	2608		c.e13-1			NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1						cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAATTACCACCTAATATCAAA	0.368																																																	0													64	57	59					15																	64027049		1844	4095	5939	SO:0001630	splice_region_variant	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2521-1G>C	15.37:g.64027049C>G			Q8IW65	Splice_Site	SNP	-	e12-1	ENST00000443617.2	37	c.2521-1	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	24.9	4.581632	0.86748	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5833	0.95478	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERC1	61814102	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.818000	0.86416	2.612000	0.88384	0.655000	0.94253	.	HERC1	-	-	ENSG00000103657		0.368	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	26	0	C	NM_003922	Intron	64027049	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	splice_site	43.59	22	17	SNP	1.000	G	G	64027049	C	G	64027049	5	3	84	1	0	0	0	0	0	0	1	0	7084	695	24	5	12329	5	HERC1	15	64027049	Splice_Site	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	35900	64027049	38504343	260	22455											
MAN2C1	4123	genome.wustl.edu	37	chr15	75660485	75660485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcctggtagggaagtctCtccggcgtcaggaagctgga	7	8	15	11	2	2	0	1	0	1	0	5	3	4	3	3	5	1	2	3	5	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:75660485C>T	ENST00000267978.5	-	2	202	c.156G>A	c.(154-156)gaG>gaA	p.E52E	RP11-817O13.8_ENST00000563278.1_lincRNA|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Silent_p.E52E|MAN2C1_ENST00000563622.1_Silent_p.E52E|MAN2C1_ENST00000565683.1_Silent_p.E52E	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	52					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGGAAGTCTCTCCGGCGTCA	0.701																																																	0													10	13	12					15																	75660485		2167	4259	6426	SO:0001819	synonymous_variant	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.156G>A	15.37:g.75660485C>T			H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Silent	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.E52	ENST00000267978.5	37	c.156	CCDS32298.1	15																																																																																			MAN2C1	-	NULL	ENSG00000140400		0.701	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	-	0	21	0	C			75660485	-1	tier1	-	no_errors	ENST00000267978	ensembl	human	known	74_37	silent	27.27	16	6	SNP	0.184	T	T	75660485	C	T	75660485	2	4	84	1	0	0	0	0	0	0	0	1	9256	912	32	3		3	MAN2C1	15	75660485	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	11633436	75660485	26870907	261	22456											
PTPN9	5780	genome.wustl.edu	37	chr15	75798100	75798100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcttttgcctggcattaAcatagtccaccaactcttgg	8	14	7	12	0	1	0	0	0	1	0	2	0	2	0	3	2	4	2	3	2	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:75798100A>G	ENST00000306726.2	-	7	1396	c.884T>C	c.(883-885)gTt>gCt	p.V295A	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	295					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCATTAACATAGTCCAC	0.463																																																	0													171	149	156					15																	75798100		2197	4294	6491	SO:0001583	missense	0				CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.884T>C	15.37:g.75798100A>G	ENSP00000303554:p.Val295Ala		Q53XR9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_CRAL-TRIO_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_CRAL-bd_toc_tran	p.V295A	ENST00000306726.2	37	c.884	CCDS10280.1	15	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015421	0.75161	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.13420	2.59	5.65	4.5	0.54988	.	0.359640	0.29321	N	0.012483	T	0.16727	0.0402	L	0.55213	1.73	0.50632	D	0.999885	P	0.36495	0.556	B	0.38880	0.284	T	0.01312	-1.1388	10	0.87932	D	0	.	11.2461	0.48998	0.863:0.0:0.0:0.137	.	295	P43378	PTN9_HUMAN	A	295;285	ENSP00000303554:V295A	ENSP00000303554:V295A	V	-	2	0	PTPN9	73585155	1.000000	0.71417	0.943000	0.38184	0.881000	0.50899	8.568000	0.90741	0.931000	0.37242	0.533000	0.62120	GTT	PTPN9	-	NULL	ENSG00000169410		0.463	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN9	HGNC	protein_coding	OTTHUMT00000286474.1	-	0	63	0	A			75798100	-1	tier1	-	no_errors	ENST00000306726	ensembl	human	known	74_37	missense	45.95	59	51	SNP	0.990	G	G	75798100	A	G	75798100	3	3	84	1	0	0	0	0	1	0	0	0	12839	43	2	4	925	4	PTPN9	15	75798100	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	137615	75798100	26733292	262	22457											
CSPG4	1464	genome.wustl.edu	37	chr15	75979740	75979740	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttgtagggtggcatcCgtgtgcactggccctgcttc	4	12	13	12	1	1	0	1	0	0	0	3	0	2	0	2	3	2	4	2	3	1	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:75979740C>T	ENST00000308508.5	-	3	3758	c.3666G>A	c.(3664-3666)acG>acA	p.T1222T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1222	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGTGGCATCCGTGTGCACTG	0.622																																																	0													58	57	58					15																	75979740		2196	4294	6490	SO:0001819	synonymous_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3666G>A	15.37:g.75979740C>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.T1222	ENST00000308508.5	37	c.3666	CCDS10284.1	15																																																																																			CSPG4	-	NULL	ENSG00000173546		0.622	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	91	0	C	NM_001897		75979740	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	silent	24.56	129	42	SNP	0.000	T	T	75979740	C	T	75979740	2	4	84	1	0	0	0	0	0	0	0	1	3969	639	23	1		1	CSPG4	15	75979740	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	181640	75979740	26551652	263	22458											
ABHD2	11057	genome.wustl.edu	37	chr15	89738468	89738468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccctgcagagaaacgagaGaacgtcatgtttgtgctgcc	10	9	11	11	2	1	2	1	0	0	2	2	5	2	2	3	0	5	3	3	0	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:89738468G>A	ENST00000352732.5	+	11	1612	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E	ABHD2_ENST00000355100.3_Silent_p.E364E|ABHD2_ENST00000565973.1_Silent_p.E364E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	364					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGAAACGAGAGAACGTCATGT	0.572																																					Colon(11;252 417 24570 33239 41878)												0													138	120	126					15																	89738468		2200	4299	6499	SO:0001819	synonymous_variant	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"Abhydrolase domain containing"	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.1092G>A	15.37:g.89738468G>A			Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.E364	ENST00000352732.5	37	c.1092	CCDS10348.1	15																																																																																			ABHD2	-	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	ENSG00000140526		0.572	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	-	0	47	0	G			89738468	1	tier1	-	no_errors	ENST00000352732	ensembl	human	known	74_37	silent	28.00	54	21	SNP	1.000	A	A	89738468	G	A	89738468	2	1	84	1	0	0	0	0	0	0	0	1	82	933	33	3		3	ABHD2	15	89738468	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	13758728	89738468	12792924	264	22459											
ST8SIA2	8128	genome.wustl.edu	37	chr15	92977596	92977596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataaccagacgctctctcTgaggatcaggtactggtaat	12	10	9	10	1	3	2	1	1	2	1	4	3	3	3	1	3	2	3	1	3	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:92977596T>C	ENST00000268164.3	+	3	518	c.281T>C	c.(280-282)cTg>cCg	p.L94P	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L73P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	94					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			ACGCTCTCTCTGAGGATCAGG	0.473																																																	0													141	111	121					15																	92977596		2198	4298	6496	SO:0001583	missense	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.281T>C	15.37:g.92977596T>C	ENSP00000268164:p.Leu94Pro		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.L94P	ENST00000268164.3	37	c.281	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	T	15.65	2.895803	0.52121	.	.	ENSG00000140557	ENST00000268164;ENST00000539113	T;T	0.18960	2.18;2.45	5.65	5.65	0.86999	.	0.499968	0.19793	N	0.105922	T	0.28067	0.0692	L	0.48642	1.525	0.80722	D	1	P;P	0.50443	0.472;0.935	B;P	0.48627	0.133;0.584	T	0.01192	-1.1423	10	0.30078	T	0.28	-0.3442	15.888	0.79269	0.0:0.0:0.0:1.0	.	73;94	C6G488;Q92186	.;SIA8B_HUMAN	P	94;73	ENSP00000268164:L94P;ENSP00000437382:L73P	ENSP00000268164:L94P	L	+	2	0	ST8SIA2	90778600	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.862000	0.56009	2.147000	0.66899	0.533000	0.62120	CTG	ST8SIA2	-	pirsf_Sialyl_trans	ENSG00000140557		0.473	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	-	0	56	0	T	NM_006011		92977596	1	tier1	-	no_errors	ENST00000268164	ensembl	human	known	74_37	missense	20.88	72	19	SNP	1.000	C	C	92977596	T	C	92977596	3	2	84	1	0	0	0	0	1	0	0	0	15279	1580	55	4	291	4	ST8SIA2	15	92977596	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	3239128	92977596	9553796	265	22460											
TTC23	64927	genome.wustl.edu	37	chr15	99761973	99761973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggtagccttgagccaGattaacatgtgcctctgcta	9	11	11	10	0	1	2	0	1	1	1	1	3	1	3	3	2	5	2	3	2	3	4	rs140079058		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr15:99761973G>T	ENST00000394132.2	-	6	1094	c.277C>A	c.(277-279)Ctg>Atg	p.L93M	TTC23_ENST00000262074.4_Missense_Mutation_p.L93M|TTC23_ENST00000394130.1_Missense_Mutation_p.L93M|TTC23_ENST00000394135.3_Missense_Mutation_p.L93M|TTC23_ENST00000558613.1_Missense_Mutation_p.L93M|TTC23_ENST00000558663.1_Missense_Mutation_p.L93M|TTC23_ENST00000394129.2_Missense_Mutation_p.L93M|TTC23_ENST00000394136.1_Missense_Mutation_p.L93M			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	93										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CCTTGAGCCAGATTAACATGT	0.478																																																	0													134	104	114					15																	99761973		2197	4297	6494	SO:0001583	missense	0				CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"Tetratricopeptide (TTC) repeat domain containing"	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.277C>A	15.37:g.99761973G>T	ENSP00000377690:p.Leu93Met		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	smart_TPR_repeat	p.L93M	ENST00000394132.2	37	c.277	CCDS10379.2	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031160	0.75504	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;0.78	5.39	4.46	0.54185	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000030	D	0.89040	0.6602	M	0.84683	2.71	0.31900	N	0.616054	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88832	0.3306	10	0.51188	T	0.08	-5.5931	10.5774	0.45235	0.0936:0.0:0.9064:0.0	.	93;93	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	M	93	ENSP00000377690:L93M;ENSP00000377693:L93M;ENSP00000262074:L93M;ENSP00000377692:L93M;ENSP00000377688:L93M;ENSP00000457901:L93M	ENSP00000262074:L93M	L	-	1	2	TTC23	97579496	0.880000	0.30214	0.962000	0.40283	0.997000	0.91878	0.648000	0.24828	2.674000	0.91012	0.655000	0.94253	CTG	TTC23	-	smart_TPR_repeat	ENSG00000103852		0.478	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23	HGNC	protein_coding	OTTHUMT00000303953.2	-	0	47	0	G	NM_022905		99761973	-1	tier1	-	no_errors	ENST00000262074	ensembl	human	known	74_37	missense	5.43	87	5	SNP	0.979	T	T	99761973	G	T	99761973	3	4	84	1	0	0	0	0	1	0	0	0	16739	933	33	3	1102	3	TTC23	15	99761973	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	6784377	99761973	2769419	266	22461											
RAB40C	57799	genome.wustl.edu	37	chr16	676076	676076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggagctatcccgcatcGtgctcatgcggcacggcatg	7	8	12	14	5	2	0	2	0	0	0	4	1	3	1	1	3	3	5	1	3	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:676076G>A	ENST00000248139.3	+	5	723	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	RAB40C_ENST00000538492.1_Missense_Mutation_p.V174M|RAB40C_ENST00000539661.1_Missense_Mutation_p.V174M|RAB40C_ENST00000535977.1_Missense_Mutation_p.V174M	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	174					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ATCCCGCATCGTGCTCATGCG	0.642																																					Melanoma(123;1631 1690 28262 44104 44957)												0													96	83	87					16																	676076		2201	4300	6501	SO:0001583	missense	0			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"RAB, member RAS oncogene"	18285	protein-coding gene	gene with protein product			"RAS-like, family 8, member C"	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.520G>A	16.37:g.676076G>A	ENSP00000248139:p.Val174Met		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V174M	ENST00000248139.3	37	c.520	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.214224	0.95104	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.95	D	0.87061	0.2153	10	0.87932	D	0	.	17.7582	0.88456	0.0:0.0:1.0:0.0	.	174;155	Q96S21;Q5PXE8	RB40C_HUMAN;.	M	174	ENSP00000438492:V174M;ENSP00000445050:V174M;ENSP00000438382:V174M;ENSP00000248139:V174M	ENSP00000248139:V174M	V	+	1	0	RAB40C	616077	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.747000	0.98863	2.438000	0.82558	0.561000	0.74099	GTG	RAB40C	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000197562		0.642	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4		0	28	0	G	NM_021168		676076	1			no_errors	ENST00000248139	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	676076	G	A	676076	3	1	84	1	0	0	0	0	1	0	0	0	12987	1145	40	1	538	1	RAB40C	16	676076	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09		676076	89678677	267	22462											
CEMP1	752014	genome.wustl.edu	37	chr16	2580765	2580765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcctcgcctgagggaGggcctggggcagggcacaag	7	3	20	11	1	0	1	0	1	0	0	1	2	0	2	3	6	0	3	3	6	1	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:2580765G>T	ENST00000567119.1	-	1	644	c.310C>A	c.(310-312)Ctc>Atc	p.L104I	AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|MIR3178_ENST00000581887.1_RNA|CEMP1_ENST00000565480.1_Intron|CEMP1_ENST00000382350.1_Missense_Mutation_p.L104I|AMDHD2_ENST00000413459.3_3'UTR	NM_001048212.3	NP_001041677.1	Q6PRD7	CEMP1_HUMAN	cementum protein 1	104						cytoplasm (GO:0005737)				lung(1)|skin(1)	2						GCCTGAGGGAGGGCCTGGGGC	0.642																																																	0													32	37	35					16																	2580765		1969	4146	6115	SO:0001583	missense	0			AY584596	CCDS42108.1	16p13.3	2006-09-22							32553	protein-coding gene	gene with protein product	"cementum protein-23"	611113				16263347	Standard	NM_001048212		Approved	CP-23	uc002cqr.3	Q6PRD7		ENST00000567119.1:c.310C>A	16.37:g.2580765G>T	ENSP00000457380:p.Leu104Ile		B2RUY1	Missense_Mutation	SNP	NULL	p.L104I	ENST00000567119.1	37	c.310	CCDS42108.1	16	.	.	.	.	.	.	.	.	.	.	G	3.449	-0.112490	0.06881	.	.	ENSG00000205923	ENST00000382350	T	0.56103	0.48	1.71	-3.43	0.04810	.	.	.	.	.	T	0.26085	0.0636	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10497	-1.0627	9	0.87932	D	0	.	3.5219	0.07745	0.3255:0.0:0.4636:0.2109	.	104	Q6PRD7	CEMP1_HUMAN	I	104	ENSP00000371787:L104I	ENSP00000371787:L104I	L	-	1	0	CEMP1	2520766	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.528000	0.00945	-1.563000	0.01680	-0.291000	0.09656	CTC	CEMP1	-	NULL	ENSG00000205923		0.642	CEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEMP1	HGNC	protein_coding	OTTHUMT00000435686.1	-	0	38	0	G	NM_001048212		2580765	-1	tier1	-	no_errors	ENST00000382350	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.000	T	T	2580765	G	T	2580765	3	4	84	1	0	0	0	0	1	0	0	0	3231	1000	35	3	437	3	CEMP1	16	2580765	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1904689	2580765	87773988	268	22463											
FAM18A	780776	genome.wustl.edu	37	chr16	10865591	10865591	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcactgttgcctcccAtcttacaaaggatgtagcca	11	11	7	12	0	2	0	1	0	1	0	3	1	3	1	3	1	3	2	3	1	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:10865591A>T	ENST00000299866.8	-	6	809	c.518T>A	c.(517-519)aTg>aAg	p.M173K	TVP23A_ENST00000572980.1_5'UTR	NM_001079512.2	NP_001072980.1	A6NH52	TV23A_HUMAN	trans-golgi network vesicle protein 23 homolog A (S. cerevisiae)	173						integral component of membrane (GO:0016021)											GTTGCCTCCCATCTTACAAAG	0.502																																																	0													57	59	58					16																	10865591		1996	4176	6172	SO:0001583	missense	0				CCDS45408.1	16p13.3	2012-11-29	2012-11-29	2012-11-29	ENSG00000166676	ENSG00000166676			20398	protein-coding gene	gene with protein product			"family with sequence similarity 18, member A"	FAM18A			Standard	NM_001079512		Approved	YDR084C	uc010buo.1	A6NH52	OTTHUMG00000177389	ENST00000299866.8:c.518T>A	16.37:g.10865591A>T	ENSP00000299866:p.Met173Lys		B2RUV4|B7ZW18	Missense_Mutation	SNP	pfam_DUF846_euk	p.M173K	ENST00000299866.8	37	c.518	CCDS45408.1	16	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044993	0.36085	.	.	ENSG00000166676	ENST00000456096;ENST00000299866	T	0.26518	1.73	5.37	5.37	0.77165	.	0.345966	0.32548	N	0.005942	T	0.14227	0.0344	N	0.14661	0.345	0.30283	N	0.791143	B	0.21520	0.057	B	0.18871	0.023	T	0.10132	-1.0643	10	0.27082	T	0.32	-45.4819	9.1327	0.36854	0.9192:0.0:0.0808:0.0	.	173	A6NH52	FA18A_HUMAN	K	148;173	ENSP00000299866:M173K	ENSP00000299866:M173K	M	-	2	0	FAM18A	10773092	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.943000	0.56621	2.025000	0.59659	0.533000	0.62120	ATG	TVP23A	-	NULL	ENSG00000166676		0.502	TVP23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TVP23A	HGNC	protein_coding	OTTHUMT00000436680.1		0	71	0	A	NM_001079512		10865591	-1			no_errors	ENST00000299866	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.999	T	T	10865591	A	T	10865591	3	4	84	1	0	0	0	0	1	0	0	0	5537	217	8	5	131	5	FAM18A	16	10865591	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	8284826	10865591	79489162	269	22464											
MYH11	4629	genome.wustl.edu	37	chr16	15839072	15839072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttcatggcggtcagctGctgctgcctcttggcaaaag	7	10	11	13	1	3	0	2	0	1	0	3	0	3	0	2	3	4	4	2	3	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:15839072G>A	ENST00000300036.5	-	20	2543	c.2434C>T	c.(2434-2436)Cag>Tag	p.Q812*	MYH11_ENST00000576790.2_Nonsense_Mutation_p.Q812*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.Q819*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.Q819*	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	812	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGGTCAGCTGCTGCTGCCTC	0.607			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													61	57	58					16																	15839072		2197	4300	6497	SO:0001587	stop_gained	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2434C>T	16.37:g.15839072G>A	ENSP00000300036:p.Gln812*		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.Q819*	ENST00000300036.5	37	c.2455	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.543727	0.98857	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	.	.	.	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.2042	0.82108	0.0:0.0:1.0:0.0	.	.	.	.	X	812;812;819;819;819	.	ENSP00000300036:Q812X	Q	-	1	0	MYH11	15746573	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.803000	0.99136	2.112000	0.64535	0.549000	0.68633	CAG	MYH11	-	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	ENSG00000133392		0.607	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0	66	0	G	NM_001040113		15839072	-1			no_errors	ENST00000396324	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	1.000	A	A	15839072	G	A	15839072	4	1	84	1	0	0	0	0	0	1	0	0	10069	1328	46	3	3607	3	MYH11	16	15839072	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	4973481	15839072	74515681	270	22465											
DNAH3	55567	genome.wustl.edu	37	chr16	20996637	20996637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccgacctgcagtatgAtcttcttaagatcttctcgc	9	12	6	14	2	4	2	0	1	4	1	5	3	4	2	3	0	1	2	3	0	2	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:20996637A>G	ENST00000261383.3	-	48	7426	c.7427T>C	c.(7426-7428)aTc>aCc	p.I2476T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2476	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCAGTATGATCTTCTTAAG	0.498																																																	0													104	80	88					16																	20996637		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7427T>C	16.37:g.20996637A>G	ENSP00000261383:p.Ile2476Thr		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.I2476T	ENST00000261383.3	37	c.7427	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760524	0.49468	.	.	ENSG00000158486	ENST00000261383	T	0.43294	0.95	5.52	5.52	0.82312	Dynein heavy chain, P-loop containing D4 domain (1);	0.157296	0.42821	D	0.000650	T	0.51143	0.1657	M	0.68952	2.095	0.80722	D	1	P	0.44344	0.833	P	0.46685	0.524	T	0.56649	-0.7944	10	0.72032	D	0.01	.	15.6564	0.77140	1.0:0.0:0.0:0.0	.	2476	Q8TD57	DYH3_HUMAN	T	2476	ENSP00000261383:I2476T	ENSP00000261383:I2476T	I	-	2	0	DNAH3	20904138	1.000000	0.71417	1.000000	0.80357	0.455000	0.32408	6.148000	0.71788	2.100000	0.63781	0.533000	0.62120	ATC	DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	22	0	A	NM_017539		20996637	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	G	G	20996637	A	G	20996637	3	3	84	1	0	0	0	0	1	0	0	0	4617	333	12	4	4982	4	DNAH3	16	20996637	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	5157565	20996637	69358116	271	22466											
UQCRC2	7385	genome.wustl.edu	37	chr16	21983276	21983276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaatggagacagtcttGtccatgctgcttttgtagca	11	12	10	8	0	1	2	0	0	1	2	2	3	2	2	1	1	4	4	1	1	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:21983276G>T	ENST00000268379.4	+	10	1563	c.799G>T	c.(799-801)Gtc>Ttc	p.V267F	UQCRC2_ENST00000561553.1_Missense_Mutation_p.V267F	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	267					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		AGACAGTCTTGTCCATGCTGC	0.478																																					Colon(123;450 1645 12841 25393 45623)												0													121	112	115					16																	21983276		2198	4300	6498	SO:0001583	missense	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.799G>T	16.37:g.21983276G>T	ENSP00000268379:p.Val267Phe		B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.V267F	ENST00000268379.4	37	c.799	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544843	0.86022	.	.	ENSG00000140740	ENST00000268379	T	0.08193	3.12	4.66	4.66	0.58398	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.055606	0.64402	D	0.000001	T	0.32615	0.0835	M	0.85630	2.765	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.25398	-1.0133	10	0.87932	D	0	-11.4866	16.5284	0.84344	0.0:0.0:1.0:0.0	.	267	P22695	QCR2_HUMAN	F	267	ENSP00000268379:V267F	ENSP00000268379:V267F	V	+	1	0	UQCRC2	21890777	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	9.230000	0.95299	2.304000	0.77564	0.650000	0.86243	GTC	UQCRC2	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	ENSG00000140740		0.478	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	-	0	53	0	G	NM_003366		21983276	1	tier1	-	no_errors	ENST00000268379	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	21983276	G	T	21983276	3	4	84	1	0	0	0	0	1	0	0	0	17069	1377	48	3	837	3	UQCRC2	16	21983276	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	986639	21983276	68371477	272	22467											
LOC100132247	100132247	genome.wustl.edu	37	chr16	22545272	22545272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgataatctcaagacacCtcctgagtgtctgctcactc	10	11	8	12	0	3	3	2	2	2	1	6	4	4	4	2	1	1	1	2	1	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:22545272C>T	ENST00000517539.1	+	8	1043	c.968C>T	c.(967-969)cCt>cTt	p.P323L	NPIPB5_ENST00000424340.1_Missense_Mutation_p.P323L|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	323	Pro-rich.					integral component of membrane (GO:0016021)											CTCAAGACACCTCCTGAGTGT	0.567																																																	0													1	1	1					16																	22545272		3	3	6	SO:0001583	missense	0				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.968C>T	16.37:g.22545272C>T	ENSP00000430633:p.Pro323Leu		B4DK13	Missense_Mutation	SNP	NULL	p.P323L	ENST00000517539.1	37	c.968	CCDS45443.1	16	.	.	.	.	.	.	.	.	.	.	.	9.816	1.184495	0.21870	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000446615;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.24908	1.83;1.92;1.92;1.83	.	.	.	.	.	.	.	.	T	0.23370	0.0565	L	0.46157	1.445	0.25829	N	0.984194	B;P	0.35124	0.068;0.485	B;B	0.40066	0.093;0.318	T	0.25222	-1.0138	7	0.51188	T	0.08	.	.	.	.	.	323;323	F5GWX0;A8MRT5	.;K220L_HUMAN	L	323;323;323;323;201;323;323;304	ENSP00000445388:P323L;ENSP00000440703:P323L;ENSP00000430633:P323L;ENSP00000431553:P323L	ENSP00000441680:P323L	P	+	2	0	RP11-368J21.2	22452773	0.916000	0.31088	0.155000	0.22561	0.155000	0.21991	0.882000	0.28186	-0.000000	0.14550	0.000000	0.15137	CCT	NPIPB5	-	NULL	ENSG00000243716		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NPIPB5	HGNC	protein_coding	OTTHUMT00000374343.2	-	0	17	0	C	NM_001135865		22545272	1	tier1	-	no_errors	ENST00000424340	ensembl	human	known	74_37	missense	29.41	12	5	SNP	0.985	T	T	22545272	C	T	22545272	3	4	84	1	0	0	0	0	1	0	0	0	8900	681	24	3	994	3	LOC100132247	16	22545272	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	561996	22545272	67809481	273	22468											
APOB48R	55911	genome.wustl.edu	37	chr16	28509621	28509621	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagccaagccctctgAggcatgatgggaccccggtg	7	6	14	14	1	1	2	0	2	1	0	1	4	1	4	5	4	2	1	5	4	1	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:28509621A>T	ENST00000431282.1	+	4	3158	c.3148A>T	c.(3148-3150)Agg>Tgg	p.R1050W	CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Intron|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.R1059W			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	1050					cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AAGCCCTCTGAGGCATGATGG	0.687																																																	0													15	19	18					16																	28509621		1943	4144	6087	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"apolipoprotein B48 receptor", "apolipoprotein B100 receptor"	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.3148A>T	16.37:g.28509621A>T	ENSP00000416094:p.Arg1050Trp		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.R1059W	ENST00000431282.1	37	c.3175		16	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758593	0.49468	.	.	ENSG00000184730	ENST00000431282	T	0.61510	0.1	4.84	0.977	0.19733	.	.	.	.	.	T	0.55909	0.1950	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.998;0.996	D;D	0.67103	0.949;0.925	T	0.41698	-0.9494	8	.	.	.	-4.6226	4.8502	0.13533	0.5222:0.3757:0.102:0.0	.	1050;1050	Q0VD83;Q9NS13	APOBR_HUMAN;.	W	1050	ENSP00000416094:R1050W	.	R	+	1	2	APOBR	28417122	0.006000	0.16342	0.007000	0.13788	0.404000	0.30871	0.603000	0.24149	0.196000	0.20367	0.375000	0.23000	AGG	APOBR	-	NULL	ENSG00000184730		0.687	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding			0	62	0	A	NM_182804		28509621	1			no_errors	ENST00000564831	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.001	T	T	28509621	A	T	28509621	3	4	84	1	0	0	0	0	1	0	0	0	786	295	11	5	3162	5	APOB48R	16	28509621	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	5964349	28509621	61845132	274	22469											
ABCC12	94160	genome.wustl.edu	37	chr16	48121857	48121857	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttactgtacctacaaacagGacaggatcctgtgggatcac	12	9	9	11	0	1	0	1	0	0	0	2	3	2	3	2	3	4	1	2	3	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:48121857G>T	ENST00000311303.3	-	25	3960	c.3615C>A	c.(3613-3615)gtC>gtA	p.V1205V	ABCC12_ENST00000532355.1_5'Flank|ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1205	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTACAAACAGGACAGGATCCT	0.443																																																	0													98	90	93					16																	48121857		2201	4300	6501	SO:0001819	synonymous_variant	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"ATP binding cassette transporters / subfamily C"	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3615C>A	16.37:g.48121857G>T			Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.V1205	ENST00000311303.3	37	c.3615	CCDS10730.1	16																																																																																			ABCC12	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000140798		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1		0	25	0	G	NM_033226		48121857	-1			no_errors	ENST00000311303	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T	T	48121857	G	T	48121857	2	4	84	1	0	0	0	0	0	0	0	1	52	1161	41	3		3	ABCC12	16	48121857	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	19612236	48121857	42232896	275	22470											
SALL1	6299	genome.wustl.edu	37	chr16	51171156	51171156	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttctggagcctctccaggTttcccgtcagcccactaaca	8	10	8	15	1	3	0	1	0	2	0	5	1	4	1	4	2	3	2	4	2	1	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:51171156T>G	ENST00000251020.4	-	3	3875	c.3842A>C	c.(3841-3843)aAc>aCc	p.N1281T	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.N104T|SALL1_ENST00000440970.1_Missense_Mutation_p.N1184T	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1281					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTCTCCAGGTTTCCCGTCAG	0.582																																					GBM(103;1352 1446 1855 4775 8890)												0													72	70	70					16																	51171156		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3842A>C	16.37:g.51171156T>G	ENSP00000251020:p.Asn1281Thr		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N1281T	ENST00000251020.4	37	c.3842	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	T	6.239	0.412265	0.11812	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559;ENST00000541611	T;T;T	0.46451	0.87;0.87;0.87	5.8	4.69	0.59074	.	0.038809	0.85682	D	0.000000	T	0.22437	0.0541	N	0.19112	0.55	0.33064	D	0.534497	B;B	0.17038	0.02;0.013	B;B	0.16722	0.016;0.015	T	0.18587	-1.0332	10	0.22706	T	0.39	.	3.3531	0.07159	0.0:0.328:0.0:0.6719	.	1281;104	Q9NSC2;F5H733	SALL1_HUMAN;.	T	1281;1184;1245;104	ENSP00000251020:N1281T;ENSP00000407914:N1184T;ENSP00000442827:N104T	ENSP00000251020:N1281T	N	-	2	0	SALL1	49728657	1.000000	0.71417	0.953000	0.39169	0.986000	0.74619	3.986000	0.56937	2.221000	0.72209	0.523000	0.50628	AAC	SALL1	-	NULL	ENSG00000103449		0.582	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	58	0	T	NM_002968		51171156	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	33.33	39	20	SNP	1.000	G	G	51171156	T	G	51171156	3	3	84	1	0	0	0	0	1	0	0	0	13855	1725	60	4	136	4	SALL1	16	51171156	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	3049299	51171156	39183597	276	22471											
ESRP2	80004	genome.wustl.edu	37	chr16	68265592	68265592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccggatgcatagcggttCaagacctagtaaggaaggca	12	6	15	8	2	1	1	1	0	0	1	1	3	1	3	2	5	2	4	2	5	5	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:68265592C>T	ENST00000565858.1	-	11	1421	c.1335G>A	c.(1333-1335)ttG>ttA	p.L445L	ESRP2_ENST00000473183.2_Silent_p.L435L|RP11-96D1.11_ENST00000571197.1_RNA	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	445					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CATAGCGGTTCAAGACCTAGT	0.622																																																	0													75	71	72					16																	68265592		2198	4299	6497	SO:0001819	synonymous_variant	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.1335G>A	16.37:g.68265592C>T			Q8N6H8|Q8WZ15|Q9H6I4	Silent	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom	p.L445	ENST00000565858.1	37	c.1335		16																																																																																			ESRP2	-	NULL	ENSG00000103067		0.622	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1		0	32	0	C	NM_024939		68265592	-1			no_errors	ENST00000565858	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	T	T	68265592	C	T	68265592	2	4	84	1	0	0	0	0	0	0	0	1	5275	825	29	3		3	ESRP2	16	68265592	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	17094436	68265592	22089161	277	22472											
NOB1	28987	genome.wustl.edu	37	chr16	69783468	69783468	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctaagaaattaccttgtaGggcagatggaaaccagaaat	16	9	10	6	0	1	3	0	0	1	3	1	4	1	4	2	2	2	2	2	2	6	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:69783468G>T	ENST00000268802.5	-	4	422	c.393C>A	c.(391-393)ccC>ccA	p.P131P		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	131					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTACCTTGTAGGGCAGATGGA	0.398																																																	0													94	86	89					16																	69783468		2198	4300	6498	SO:0001819	synonymous_variant	0			AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"nin one binding protein"	613586	"PSMD8 binding protein 1"	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.393C>A	16.37:g.69783468G>T			Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Silent	SNP	pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease	p.P131	ENST00000268802.5	37	c.393	CCDS10884.1	16																																																																																			NOB1	-	pirsf_D-site_20S_pre-rRNA_nuclease	ENSG00000141101		0.398	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOB1	HGNC	protein_coding	OTTHUMT00000268958.2	-	0	64	0	G	NM_014062		69783468	-1	tier1	-	no_errors	ENST00000268802	ensembl	human	known	74_37	silent	6.45	57	4	SNP	0.998	T	T	69783468	G	T	69783468	2	4	84	1	0	0	0	0	0	0	0	1	10550	987	35	3		3	NOB1	16	69783468	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1517876	69783468	20571285	278	22473											
WWOX	51741	genome.wustl.edu	37	chr16	78466480	78466480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgctggcttataacaggtCcaagctctgcaacatcctct	10	11	8	12	0	2	0	0	0	2	0	4	1	4	0	2	2	5	4	2	2	4	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:78466480C>G	ENST00000566780.1	+	8	1253	c.887C>G	c.(886-888)tCc>tGc	p.S296C	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.S296C	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	296	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TATAACAGGTCCAAGCTCTGC	0.502																																																	0													108	113	111					16																	78466480		2039	4185	6224	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.887C>G	16.37:g.78466480C>G	ENSP00000457230:p.Ser296Cys		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.S296C	ENST00000566780.1	37	c.887	CCDS42196.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.566886|4.566886	0.86439|0.86439	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|D	.|0.86865	.|-2.18	5.93|5.93	4.98|4.98	0.66077|0.66077	.|NAD(P)-binding domain (1);	.|0.055458	.|0.64402	.|D	.|0.000001	D|D	0.96052|0.96052	0.8714|0.8714	H|H	0.98936|0.98936	4.375|4.375	0.53005|0.53005	D|D	0.999964|0.999964	.|D	.|0.89917	.|1.0	.|D	.|0.65987	.|0.94	D|D	0.97642|0.97642	1.0149|1.0149	6|10	0.17369|0.87932	T|D	0.5|0	.|.	14.8479|14.8479	0.70272|0.70272	0.0:0.9312:0.0:0.0687|0.0:0.9312:0.0:0.0687	.|.	.|296	.|Q9NZC7	.|WWOX_HUMAN	A|C	139|296	.|ENSP00000386161:S296C	ENSP00000299644:P139A|ENSP00000386161:S296C	P|S	+|+	1|2	0|0	WWOX|WWOX	77023981|77023981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.913000|0.913000	0.54294|0.54294	7.487000|7.487000	0.81328|0.81328	1.510000|1.510000	0.48803|0.48803	0.655000|0.655000	0.94253|0.94253	CCA|TCC	WWOX	-	NULL	ENSG00000186153		0.502	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	-	0	38	0	C			78466480	1	tier1	-	no_errors	ENST00000566780	ensembl	human	known	74_37	missense	22.73	34	10	SNP	1.000	G	G	78466480	C	G	78466480	3	3	84	1	0	0	0	0	1	0	0	0	17463	855	30	5	979	5	WWOX	16	78466480	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	8683012	78466480	11888273	279	22474											
HSDL1	83693	genome.wustl.edu	37	chr16	84163988	84163988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggattatattgagacctCggcttgctaactcttcagcg	9	13	9	10	2	3	1	2	1	1	1	4	3	3	2	1	2	3	2	1	2	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr16:84163988C>T	ENST00000219439.4	-	4	445	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	HSDL1_ENST00000434463.3_Missense_Mutation_p.R90Q	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	90						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						ATTGAGACCTCGGCTTGCTAA	0.443																																																	0													105	109	108					16																	84163988		2200	4300	6500	SO:0001583	missense	0			AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.269G>A	16.37:g.84163988C>T	ENSP00000219439:p.Arg90Gln		B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.R90Q	ENST00000219439.4	37	c.269	CCDS10942.1	16	.	.	.	.	.	.	.	.	.	.	C	11.96	1.794118	0.31777	.	.	ENSG00000103160	ENST00000434463;ENST00000219439	T;D	0.87887	1.35;-2.31	5.36	2.96	0.34315	NAD(P)-binding domain (1);	0.370128	0.34025	N	0.004337	T	0.78855	0.4349	L	0.33710	1.025	0.29304	N	0.868498	B;B	0.26195	0.144;0.069	B;B	0.26202	0.041;0.067	T	0.70306	-0.4908	10	0.33141	T	0.24	-7.4612	9.7145	0.40265	0.0:0.8002:0.0:0.1998	.	90;90	B4DSL2;Q3SXM5	.;HSDL1_HUMAN	Q	90	ENSP00000407437:R90Q;ENSP00000219439:R90Q	ENSP00000219439:R90Q	R	-	2	0	HSDL1	82721489	0.035000	0.19736	0.800000	0.32199	0.035000	0.12851	0.353000	0.20130	1.050000	0.40346	0.655000	0.94253	CGA	HSDL1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000103160		0.443	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSDL1	HGNC	protein_coding	OTTHUMT00000269076.3	-	0	54	0	C	NM_031463		84163988	-1	tier1	-	no_errors	ENST00000219439	ensembl	human	known	74_37	missense	29.27	58	24	SNP	0.944	T	T	84163988	C	T	84163988	3	4	84	1	0	0	0	0	1	0	0	0	7420	884	31	1	735	1	HSDL1	16	84163988	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	5697508	84163988	6190765	280	22475											
TP53	7157	genome.wustl.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R282W	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	38	0	G	NM_000546		7577094	-1	tier1	rs28934574	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	80.00	4	16	SNP	0.997	A	A	7577094	G	A	7577094	3	1	84	1	0	0	0	0	1	0	0	0	16429	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09		7577094	73618116	281	22476											
B9D1	27077	genome.wustl.edu	37	chr17	19251097	19251097	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagaatgaggacctacCggccaggtgagaagggcacg	12	4	16	9	2	1	3	1	2	0	2	1	5	1	4	3	5	1	1	3	5	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:19251097C>T	ENST00000261499.4	-	4	484	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	B9D1_ENST00000395615.1_Splice_Site_p.R114Q|B9D1_ENST00000461069.2_Splice_Site_p.R114Q|B9D1_ENST00000575403.1_Splice_Site_p.G90S|B9D1_ENST00000477478.2_Splice_Site_p.G90S|B9D1_ENST00000268841.6_Splice_Site_p.R114Q|B9D1_ENST00000395616.3_Splice_Site_p.R114Q	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	114	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGGACCTACCGGCCAGGTGA	0.587																																																	0													81	55	64					17																	19251097		2203	4300	6503	SO:0001630	splice_region_variant	0			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"endothelial precursor protein B9"	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.341+1G>A	17.37:g.19251097C>T			Q9BU22	Missense_Mutation	SNP	pfam_B9_dom	p.R114Q	ENST00000261499.4	37	c.341	CCDS11205.1	17	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998423	0.54147	.	.	ENSG00000108641	ENST00000395615;ENST00000261499;ENST00000395616;ENST00000268841;ENST00000440841	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.43	5.43	0.79202	.	0.222293	0.45867	D	0.000324	T	0.50667	0.1629	L	0.29908	0.895	0.47819	D	0.999524	B	0.24823	0.112	B	0.18561	0.022	T	0.45673	-0.9245	9	.	.	.	.	10.2721	0.43489	0.0:0.9094:0.0:0.0906	.	114	Q9UPM9	B9D1_HUMAN	Q	114;114;114;114;105	ENSP00000378977:R114Q;ENSP00000261499:R114Q;ENSP00000378978:R114Q;ENSP00000268841:R114Q;ENSP00000410835:R105Q	.	R	-	2	0	B9D1	19191690	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.943000	0.56621	2.536000	0.85505	0.561000	0.74099	CGG	B9D1	-	pfam_B9_dom	ENSG00000108641		0.587	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D1	HGNC	protein_coding	OTTHUMT00000132494.1	-	0	47	0	C	NM_015681	Missense_Mutation	19251097	-1	tier1	-	no_errors	ENST00000261499	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	19251097	C	T	19251097	5	4	84	1	0	0	0	0	0	0	1	0	1278	666	23	1	289	1	B9D1	17	19251097	Splice_Site	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	11674003	19251097	61944113	282	22477											
TMEM99	147184	genome.wustl.edu	37	chr17	38991522	38991522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacacctggggctgtttgTtttctacgtttacctcaaca	7	15	7	12	1	2	0	1	0	1	0	3	0	3	0	3	2	3	4	3	2	3	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:38991522T>C	ENST00000301665.3	+	3	1058	c.754T>C	c.(754-756)Ttt>Ctt	p.F252L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	252						integral component of membrane (GO:0016021)				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGGCTGTTTGTTTTCTACGTT	0.428																																																	0													78	75	76					17																	38991522		1758	3741	5499	SO:0001583	missense	0			AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.754T>C	17.37:g.38991522T>C	ENSP00000301665:p.Phe252Leu		B4DQ34|Q96BP9	Missense_Mutation	SNP	NULL	p.F252L	ENST00000301665.3	37	c.754	CCDS42319.1	17	.	.	.	.	.	.	.	.	.	.	T	8.620	0.891236	0.17613	.	.	ENSG00000167920	ENST00000301665	T	0.27256	1.68	3.57	0.711	0.18162	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B	0.25521	0.128	B	0.20384	0.029	T	0.32561	-0.9902	8	.	.	.	.	2.2829	0.04119	0.5567:0.0:0.2036:0.2398	.	252	Q8N816	TMM99_HUMAN	L	252	ENSP00000301665:F252L	.	F	+	1	0	TMEM99	36245048	0.098000	0.21812	0.000000	0.03702	0.000000	0.00434	1.773000	0.38563	-0.092000	0.12417	-0.452000	0.05504	TTT	TMEM99	-	NULL	ENSG00000167920		0.428	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM99	HGNC	protein_coding	OTTHUMT00000257681.1	-	0	43	0	T	NM_145274		38991522	1	tier1	-	no_errors	ENST00000301665	ensembl	human	known	74_37	missense	52.50	19	21	SNP	0.000	C	C	38991522	T	C	38991522	3	2	84	1	0	0	0	0	1	0	0	0	16273	1725	60	4	756	4	TMEM99	17	38991522	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	19740425	38991522	42203688	283	22478											
UBTF	7343	genome.wustl.edu	37	chr17	42289815	42289815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagtccttcacctccttcGtagtggcctgcaaaccaaaa	10	9	9	13	1	1	0	1	0	0	0	4	1	3	1	5	2	2	2	5	2	4	3	rs372626678		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:42289815G>A	ENST00000302904.4	-	8	1160	c.668C>T	c.(667-669)aCg>aTg	p.T223M	UBTF_ENST00000436088.1_Missense_Mutation_p.T223M|UBTF_ENST00000527034.1_Intron|UBTF_ENST00000343638.5_Intron|UBTF_ENST00000533177.1_Intron|UBTF_ENST00000537550.1_5'Flank|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Intron|UBTF_ENST00000529383.1_Missense_Mutation_p.T223M|UBTF_ENST00000393606.3_Intron			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	223					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACCTCCTTCGTAGTGGCCTG	0.627																																																	0								G	,,MET/THR	1,4405	2.1+/-5.4	0,1,2202	80	76	78		,,668	3.9	1	17		78	0,8600		0,0,4300	no	intron,intron,missense	UBTF	NM_001076683.1,NM_001076684.2,NM_014233.3	,,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,possibly-damaging	,,223/765	42289815	1,13005	2203	4300	6503	SO:0001583	missense	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.668C>T	17.37:g.42289815G>A	ENSP00000302640:p.Thr223Met		A8K6R8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.T223M	ENST00000302904.4	37	c.668	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	g	16.37	3.103069	0.56183	2.27E-4	0.0	ENSG00000108312	ENST00000302904;ENST00000436088;ENST00000529383	D;D;D	0.97994	-4.65;-4.65;-4.65	4.9	3.89	0.44902	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.294971	0.35555	N	0.003131	D	0.97536	0.9193	L	0.51422	1.61	0.40175	D	0.977228	D	0.63880	0.993	P	0.61201	0.885	D	0.96888	0.9651	10	0.33940	T	0.23	-7.8194	14.2626	0.66094	0.0:0.0:0.8496:0.1504	.	223	P17480	UBF1_HUMAN	M	223	ENSP00000302640:T223M;ENSP00000390669:T223M;ENSP00000435708:T223M	ENSP00000302640:T223M	T	-	2	0	UBTF	39645341	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.332000	0.65911	1.135000	0.42183	0.442000	0.29010	ACG	UBTF	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.627	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	-	0	34	0	G	NM_014233		42289815	-1	tier1	-	no_errors	ENST00000302904	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	A	A	42289815	G	A	42289815	3	1	84	1	0	0	0	0	1	0	0	0	16958	1145	40	1	1682	1	UBTF	17	42289815	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3298293	42289815	38905395	284	22479											
BZRAP1	9256	genome.wustl.edu	37	chr17	56405068	56405068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggtcagttccccccaCgggcctggagctcccgtctc	4	9	11	17	2	3	0	2	0	1	0	6	1	5	1	5	3	1	2	5	3	0	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:56405068C>T	ENST00000343736.4	-	1	377	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA|BZRAP1_ENST00000268893.6_Missense_Mutation_p.V72M|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1_ENST00000355701.3_Missense_Mutation_p.V72M			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	72						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTCCCCCCACGGGCCTGGAG	0.627																																																	0													61	56	57					17																	56405068		2203	4300	6503	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.214G>A	17.37:g.56405068C>T	ENSP00000345824:p.Val72Met		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.V72M	ENST00000343736.4	37	c.214	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110332	0.20714	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.05382	3.51;3.51;3.45	4.97	-9.14	0.00701	.	2.108670	0.01990	N	0.045441	T	0.06645	0.0170	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18610	0.007;0.029;0.017	B;B;B	0.16722	0.003;0.016;0.004	T	0.15435	-1.0437	10	0.46703	T	0.11	.	10.8599	0.46821	0.0:0.3671:0.0881:0.5448	.	72;72;72	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	M	72	ENSP00000347929:V72M;ENSP00000345824:V72M;ENSP00000268893:V72M	ENSP00000268893:V72M	V	-	1	0	BZRAP1	53760067	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.720000	0.01871	-2.321000	0.00641	-1.587000	0.00848	GTG	BZRAP1	-	NULL	ENSG00000005379		0.627	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0	75	0	C	NM_004758		56405068	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	missense	17.31	86	18	SNP	0.000	T	T	56405068	C	T	56405068	3	4	84	1	0	0	0	0	1	0	0	0	1581	536	19	1	5483	1	BZRAP1	17	56405068	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	14115253	56405068	24790142	285	22480											
KCNH6	81033	genome.wustl.edu	37	chr17	61601570	61601570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgcaacgacggcttctgCgaactcttcggctactcccg	7	10	9	15	5	2	0	0	0	2	0	4	2	3	0	1	2	6	3	1	2	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:61601570C>T	ENST00000583023.1	+	2	158	c.147C>T	c.(145-147)tgC>tgT	p.C49C	KCNH6_ENST00000456941.2_Silent_p.C49C|KCNH6_ENST00000314672.5_Silent_p.C49C|KCNH6_ENST00000581784.1_Silent_p.C49C|KCNH6_ENST00000580652.1_Silent_p.C49C	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	49	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACGGCTTCTGCGAACTCTTCG	0.592																																																	0													198	179	186					17																	61601570		2203	4300	6503	SO:0001819	synonymous_variant	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.147C>T	17.37:g.61601570C>T			Q9BRD7	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.C49	ENST00000583023.1	37	c.147	CCDS11638.1	17																																																																																			KCNH6	-	pfam_PAS_fold,superfamily_PAS	ENSG00000173826		0.592	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0	42	0	C	NM_030779		61601570	1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	silent	18.84	56	13	SNP	0.851	T	T	61601570	C	T	61601570	2	4	84	1	0	0	0	0	0	0	0	1	8063	776	27	1		1	KCNH6	17	61601570	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	5196502	61601570	19593640	286	22481											
COG1	9382	genome.wustl.edu	37	chr17	71189440	71189440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcgccgtggggctagtgGacgccgtgaaggccaccgac	6	5	17	13	5	0	1	0	1	0	0	0	3	0	2	4	4	1	2	4	4	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:71189440G>A	ENST00000299886.4	+	1	312	c.232G>A	c.(232-234)Gac>Aac	p.D78N	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	78					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GGGGCTAGTGGACGCCGTGAA	0.751																																																	0													17	18	18					17																	71189440		2181	4277	6458	SO:0001583	missense	0				CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"Components of oligomeric golgi complex"	6545	protein-coding gene	gene with protein product		606973	"low density lipoprotein receptor defect B complementing"	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.232G>A	17.37:g.71189440G>A	ENSP00000299886:p.Asp78Asn		Q9NPV9|Q9P2G6	Missense_Mutation	SNP	NULL	p.D78N	ENST00000299886.4	37	c.232	CCDS11692.1	17	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002036	0.35320	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.23754	1.89;1.9	3.89	3.89	0.44902	.	0.357482	0.28921	N	0.013708	T	0.22003	0.0530	L	0.33245	0.995	0.34944	D	0.750618	P;B;P	0.36392	0.551;0.404;0.551	B;B;B	0.39027	0.173;0.288;0.173	T	0.21177	-1.0253	10	0.15952	T	0.53	-22.1124	16.3989	0.83632	0.0:0.0:1.0:0.0	.	78;78;78	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	N	78	ENSP00000400111:D78N;ENSP00000299886:D78N	ENSP00000299886:D78N	D	+	1	0	COG1	68701035	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	2.344000	0.44010	2.158000	0.67659	0.484000	0.47621	GAC	COG1	-	NULL	ENSG00000166685		0.751	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG1	HGNC	protein_coding	OTTHUMT00000441638.1	-	0	16	0	G			71189440	1	tier1	-	no_errors	ENST00000299886	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	A	A	71189440	G	A	71189440	3	1	84	1	0	0	0	0	1	0	0	0	3664	1174	41	3	234	3	COG1	17	71189440	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9587870	71189440	10005770	287	22482											
BAIAP2	10458	genome.wustl.edu	37	chr17	79059483	79059483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcacaacgagctgcttacGcagctggagcagaaggtgga	11	8	13	9	2	1	1	1	0	0	1	1	4	1	3	0	3	6	5	0	3	3	2	rs140205618	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:79059483G>A	ENST00000321300.6	+	5	402	c.309G>A	c.(307-309)acG>acA	p.T103T	BAIAP2_ENST00000575712.1_Silent_p.T103T|BAIAP2_ENST00000392411.3_Silent_p.T25T|BAIAP2_ENST00000435091.3_Silent_p.T103T|BAIAP2_ENST00000321280.7_Silent_p.T103T|BAIAP2_ENST00000575245.1_Silent_p.T136T|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000428708.2_Silent_p.T103T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	103	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGCTGCTTACGCAGCTGGAGC	0.597																																																	0								A	,,,	2,4404	4.2+/-10.8	0,2,2201	86	75	79		309,309,309,309	-8.6	0	17	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	103/535,103/521,103/522,103/553	79059483	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.309G>A	17.37:g.79059483G>A			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.T103	ENST00000321300.6	37	c.309	CCDS11775.1	17																																																																																			BAIAP2	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000175866		0.597	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1		0	22	0	G			79059483	1			no_errors	ENST00000321300	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.007	A	A	79059483	G	A	79059483	2	1	84	1	0	0	0	0	0	0	0	1	1302	1074	38	1		1	BAIAP2	17	79059483	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7870043	79059483	2135727	288	22483											
ACTG1	71	genome.wustl.edu	37	chr17	79478583	79478583	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccagtggtgcgcccagAggcgtagagggacagcacgg	10	4	17	10	3	0	2	0	0	0	2	0	3	0	3	2	4	3	2	2	4	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr17:79478583A>C	ENST00000575842.1	-	3	859	c.433T>G	c.(433-435)Tct>Gct	p.S145A	RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.S145A|ACTG1_ENST00000331925.2_Missense_Mutation_p.S145A|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Missense_Mutation_p.S145A			P63261	ACTG_HUMAN	actin, gamma 1	145					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GTGCGCCCAGAGGCGTAGAGG	0.622																																																	0													72	78	76					17																	79478583		2203	4300	6503	SO:0001583	missense	0				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"deafness, autosomal dominant 20; deafness, autosomal dominant 26"	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.433T>G	17.37:g.79478583A>C	ENSP00000458162:p.Ser145Ala		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.S145A	ENST00000575842.1	37	c.433	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	a	14.07	2.426553	0.43020	.	.	ENSG00000184009	ENST00000331925	D	0.97066	-4.23	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000001	D	0.98576	0.9524	M	0.82716	2.605	0.49213	D	0.999764	B	0.33413	0.411	D	0.65010	0.931	D	0.99808	1.1039	10	0.87932	D	0	.	13.0151	0.58753	1.0:0.0:0.0:0.0	.	145	P63261	ACTG_HUMAN	A	145	ENSP00000331514:S145A	ENSP00000331514:S145A	S	-	1	0	ACTG1	77093178	1.000000	0.71417	0.865000	0.33974	0.362000	0.29581	8.917000	0.92751	1.724000	0.51502	0.456000	0.33151	TCT	ACTG1	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000184009		0.622	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	-	0	38	0	A	NM_001614		79478583	-1	tier1	-	no_errors	ENST00000331925	ensembl	human	known	74_37	missense	22.09	67	19	SNP	1.000	C	C	79478583	A	C	79478583	3	2	84	1	0	0	0	0	1	0	0	0	196	304	11	4	706	4	ACTG1	17	79478583	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	419100	79478583	1716627	289	22484											
CHMP1B	57132	genome.wustl.edu	37	chr18	11851577	11851577	+	Frame_Shift_Del	DEL	A	A	-																															aagaactgagtaggagtgccAaaaaatgcgataaggaggaa																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr18:11851577delA	ENST00000526991.2	+	1	183	c.67delA	c.(67-69)aaafs	p.K24fs	RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000535121.1_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000423027.3_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	24					cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|protein transport (GO:0015031)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|lung(1)|urinary_tract(1)	3						TAGGAGTGCCAAAAAATGCGA	0.502																																																	0													31	30	30					18																	11851577		1902	4114	6016	SO:0001589	frameshift_variant	0			AF306520	CCDS54180.1	18p11.21	2011-09-21	2011-09-21		ENSG00000255112	ENSG00000255112		"Charged multivesicular body proteins"	24287	protein-coding gene	gene with protein product		606486	"chromatin modifying protein 1B"			15537668	Standard	NM_020412		Approved	CHMP1.5, C18orf2, Vps46B	uc002kqe.3	Q7LBR1	OTTHUMG00000165820	ENST00000526991.2:c.67delA	18.37:g.11851577delA	ENSP00000432279:p.Lys24fs		Q96E89|Q9HD41	Frame_Shift_Del	DEL	pfam_Snf7	p.K24fs	ENST00000526991.2	37	c.67	CCDS54180.1	18																																																																																			CHMP1B	-	pfam_Snf7	ENSG00000255112		0.502	CHMP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP1B	HGNC	protein_coding	OTTHUMT00000386375.2		0	49	0	A	NM_020412		11851577	1	tier1		no_errors	ENST00000526991	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-	-	11851577	A	-	11851577	7	5	84	1	0	1	0	1	0	0	0	0	3360	131	5	0	69	0	CHMP1B	18	11851577	Frame_Shift_Del	DEL	A	TCGA-L5-A8NJ-01A-11D-A36J-09		11851577	66225671	290	22485											
AFG3L2	10939	genome.wustl.edu	37	chr18	12367358	12367358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcctccagaagagcGtgtggtagcagctggctttg	7	10	12	12	1	0	2	0	0	0	2	3	2	3	2	4	2	3	4	4	2	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr18:12367358G>A	ENST00000269143.3	-	4	547	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	106					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.R106C(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCAGAAGAGCGTGTGGTAGCA	0.473																																																	1	Substitution - Missense(1)	endometrium(1)											117	109	112					18																	12367358		2203	4300	6503	SO:0001583	missense	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.316C>T	18.37:g.12367358G>A	ENSP00000269143:p.Arg106Cys		Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.R106C	ENST00000269143.3	37	c.316	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923191	0.33908	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93247	-3.19	5.72	1.69	0.24217	Peptidase M41, FtsH (1);	2.831530	0.00710	N	0.000837	D	0.90448	0.7009	L	0.43152	1.355	0.09310	N	1	P	0.41498	0.752	B	0.35688	0.208	T	0.79732	-0.1680	10	0.66056	D	0.02	7.891	9.5003	0.39013	0.0649:0.0:0.5742:0.3609	.	106	Q9Y4W6	AFG32_HUMAN	C	106;121	ENSP00000269143:R106C	ENSP00000269143:R106C	R	-	1	0	AFG3L2	12357358	0.003000	0.15002	0.004000	0.12327	0.516000	0.34256	0.730000	0.26043	0.018000	0.15052	0.655000	0.94253	CGC	AFG3L2	-	NULL	ENSG00000141385		0.473	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2		0	39	0	G	NM_006796		12367358	-1			no_errors	ENST00000269143	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.003	A	A	12367358	G	A	12367358	3	1	84	1	0	0	0	0	1	0	0	0	360	1145	40	1	2133	1	AFG3L2	18	12367358	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	515781	12367358	65709890	291	22486											
LAMA3	3909	genome.wustl.edu	37	chr18	21519301	21519301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctccagtttggggacattCccaccagccacttgctattc	7	11	7	16	0	0	0	0	0	0	0	3	1	2	1	5	2	2	2	5	2	1	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr18:21519301C>G	ENST00000313654.9	+	68	9218	c.8977C>G	c.(8977-8979)Ccc>Gcc	p.P2993A	LAMA3_ENST00000269217.6_Missense_Mutation_p.P1384A|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1328A|LAMA3_ENST00000399516.3_Missense_Mutation_p.P2937A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2993	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGGGGACATTCCCACCAGCCA	0.557																																																	0													158	158	158					18																	21519301		2203	4300	6503	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8977C>G	18.37:g.21519301C>G	ENSP00000324532:p.Pro2993Ala		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P2993A	ENST00000313654.9	37	c.8977	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923804	0.73213	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.63255	-0.03;-0.03;-0.03	5.41	4.53	0.55603	Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.67239	0.2872	L	0.39326	1.205	0.49051	D	0.999745	D;D;D;D	0.76494	0.999;0.962;0.965;0.982	D;P;P;P	0.80764	0.994;0.534;0.556;0.772	T	0.62435	-0.6855	9	0.07482	T	0.82	.	13.9589	0.64166	0.0:0.8467:0.1533:0.0	.	1328;1384;2937;2993	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	A	2993;2937;1384	ENSP00000324532:P2993A;ENSP00000382432:P2937A;ENSP00000269217:P1384A	ENSP00000269217:P1384A	P	+	1	0	LAMA3	19773299	0.997000	0.39634	1.000000	0.80357	0.974000	0.67602	2.086000	0.41643	1.276000	0.44395	0.561000	0.74099	CCC	LAMA3	-	pfscan_Laminin_G	ENSG00000053747		0.557	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0	29	0	C	NM_000227, NM_198129		21519301	1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	G	G	21519301	C	G	21519301	3	3	84	1	0	0	0	0	1	0	0	0	8635	855	30	5	9422	5	LAMA3	18	21519301	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	9151943	21519301	56557947	292	22487											
LAMA3	3909	genome.wustl.edu	37	chr18	21519331	21519331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgctattcaagcttcctCaggagctgctgaaacccagg	10	10	9	12	0	2	1	2	1	0	0	3	2	3	2	2	2	5	4	2	2	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr18:21519331C>A	ENST00000313654.9	+	68	9248	c.9007C>A	c.(9007-9009)Cag>Aag	p.Q3003K	LAMA3_ENST00000269217.6_Missense_Mutation_p.Q1394K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.Q1338K|LAMA3_ENST00000399516.3_Missense_Mutation_p.Q2947K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3003	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAAGCTTCCTCAGGAGCTGCT	0.542																																																	0													144	145	145					18																	21519331		2203	4300	6503	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9007C>A	18.37:g.21519331C>A	ENSP00000324532:p.Gln3003Lys		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q3003K	ENST00000313654.9	37	c.9007	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347324	0.24426	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.62498	0.02;0.02;0.02	5.41	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.45816	0.1361	L	0.39397	1.21	0.26637	N	0.972351	B;B;B;B	0.30406	0.278;0.278;0.03;0.03	B;B;B;B	0.24974	0.057;0.057;0.012;0.012	T	0.36237	-0.9756	9	0.06099	T	0.92	.	9.7621	0.40539	0.1438:0.6989:0.1572:0.0	.	1338;1394;2947;3003	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	3003;2947;1394	ENSP00000324532:Q3003K;ENSP00000382432:Q2947K;ENSP00000269217:Q1394K	ENSP00000269217:Q1394K	Q	+	1	0	LAMA3	19773329	0.903000	0.30736	0.997000	0.53966	0.929000	0.56500	1.350000	0.34010	2.543000	0.85770	0.561000	0.74099	CAG	LAMA3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000053747		0.542	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0	28	0	C	NM_000227, NM_198129		21519331	1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.813	A	A	21519331	C	A	21519331	3	1	84	1	0	0	0	0	1	0	0	0	8635	827	29	3	9452	3	LAMA3	18	21519331	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	30	21519331	56557917	293	22488											
ASXL3	80816	genome.wustl.edu	37	chr18	31319460	31319460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcatctcttatgtccaacTtaccattaacatctgaagca	14	12	4	11	0	2	1	0	1	2	0	4	1	3	1	2	0	5	2	2	0	6	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr18:31319460T>G	ENST00000269197.5	+	11	2092	c.2092T>G	c.(2092-2094)Tta>Gta	p.L698V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	698	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TATGTCCAACTTACCATTAAC	0.368																																																	0													191	186	187					18																	31319460		1924	4132	6056	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2092T>G	18.37:g.31319460T>G	ENSP00000269197:p.Leu698Val		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.L698V	ENST00000269197.5	37	c.2092	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316398	0.40996	.	.	ENSG00000141431	ENST00000269197	T	0.18657	2.2	5.91	3.46	0.39613	.	0.606836	0.15625	N	0.252708	T	0.34250	0.0891	M	0.63843	1.955	0.25942	N	0.982857	D	0.76494	0.999	P	0.61070	0.883	T	0.13926	-1.0491	10	0.20046	T	0.44	.	8.7972	0.34887	0.0:0.206:0.0:0.794	.	698	Q9C0F0	ASXL3_HUMAN	V	698	ENSP00000269197:L698V	ENSP00000269197:L698V	L	+	1	2	ASXL3	29573458	0.997000	0.39634	0.589000	0.28718	0.841000	0.47740	1.517000	0.35867	0.461000	0.27071	0.377000	0.23210	TTA	ASXL3	-	NULL	ENSG00000141431		0.368	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	-	0	56	0	T			31319460	1	tier1	-	no_errors	ENST00000269197	ensembl	human	known	74_37	missense	83.33	4	20	SNP	0.878	G	G	31319460	T	G	31319460	3	3	84	1	0	0	0	0	1	0	0	0	1069	1606	56	4	2134	4	ASXL3	18	31319460	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	9800129	31319460	46757788	294	22489											
SETBP1	26040	genome.wustl.edu	37	chr18	42618465	42618465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagggatgccaagtccccActtaaaagtggaccagacag	13	8	10	10	0	0	1	0	0	0	1	1	3	1	3	4	2	1	0	4	2	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr18:42618465A>T	ENST00000282030.5	+	5	4312	c.4016A>T	c.(4015-4017)cAc>cTc	p.H1339L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1339						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H1339R(1)|p.H1285R(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAAGTCCCCACTTAAAAGTG	0.458									Schinzel-Giedion syndrome																																								2	Substitution - Missense(2)	endometrium(2)											131	115	120					18																	42618465		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4016A>T	18.37:g.42618465A>T	ENSP00000282030:p.His1339Leu		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.H1339L	ENST00000282030.5	37	c.4016	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	A	24.3	4.519545	0.85495	.	.	ENSG00000152217	ENST00000282030	T	0.70399	-0.48	5.84	5.84	0.93424	.	0.055514	0.64402	D	0.000001	T	0.77651	0.4162	L	0.32530	0.975	0.41759	D	0.989705	D	0.69078	0.997	D	0.78314	0.991	T	0.79386	-0.1825	10	0.54805	T	0.06	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	1339	Q9Y6X0	SETBP_HUMAN	L	1339	ENSP00000282030:H1339L	ENSP00000282030:H1339L	H	+	2	0	SETBP1	40872463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.316000	0.72857	2.230000	0.72887	0.528000	0.53228	CAC	SETBP1	-	NULL	ENSG00000152217		0.458	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4		0	74	0	A	NM_001130110		42618465	1			no_errors	ENST00000282030	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	42618465	A	T	42618465	3	4	84	1	0	0	0	0	1	0	0	0	14174	159	6	5	4223	5	SETBP1	18	42618465	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	11299005	42618465	35458783	295	22490											
DSEL	92126	genome.wustl.edu	37	chr18	65180368	65180368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgttaaggtggctcaacTtgggtccatagagagcttca	10	12	11	8	0	2	1	2	0	0	1	3	2	3	1	1	3	2	3	1	3	3	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr18:65180368T>C	ENST00000310045.7	-	2	2981	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	493					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GTGGCTCAACTTGGGTCCATA	0.463																																																	0													99	91	94					18																	65180368		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1508A>G	18.37:g.65180368T>C	ENSP00000310565:p.Lys503Arg		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.K503R	ENST00000310045.7	37	c.1508	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949189	0.73787	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.26957	1.7	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	T	0.53222	0.1783	M	0.80183	2.485	0.51012	D	0.999906	D	0.76494	0.999	D	0.80764	0.994	T	0.56715	-0.7933	10	0.49607	T	0.09	-15.6172	15.2042	0.73165	0.0:0.0:0.0:1.0	.	493	Q8IZU8	DSEL_HUMAN	R	503;493	ENSP00000310565:K503R	ENSP00000310565:K503R	K	-	2	0	DSEL	63331348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.849000	0.86908	2.083000	0.62718	0.460000	0.39030	AAG	DSEL	-	NULL	ENSG00000171451		0.463	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0	68	0	T	NM_032160		65180368	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	77.14	8	27	SNP	1.000	C	C	65180368	T	C	65180368	3	2	84	1	0	0	0	0	1	0	0	0	4789	1609	56	4	2164	4	DSEL	18	65180368	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	22561903	65180368	12896880	296	22491											
PRTN3	5657	genome.wustl.edu	37	chr19	843982	843982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctcggtggctcaggtgtTtctgaacaactacgacgcgg	7	11	12	11	4	3	1	1	1	2	0	4	2	3	1	0	4	3	2	0	4	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:843982T>C	ENST00000234347.5	+	3	363	c.317T>C	c.(316-318)tTt>tCt	p.F106S	PRTN3_ENST00000544537.2_Missense_Mutation_p.F65S	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	106	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGGTGTTTCTGAACAAC	0.667																																																	0													40	41	41					19																	843982		2201	4298	6499	SO:0001583	missense	0				CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.317T>C	19.37:g.843982T>C	ENSP00000234347:p.Phe106Ser		P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.F106S	ENST00000234347.5	37	c.317	CCDS32860.1	19	.	.	.	.	.	.	.	.	.	.	t	10.93	1.490912	0.26774	.	.	ENSG00000196415	ENST00000234347;ENST00000544537	D	0.89050	-2.46	2.73	2.73	0.32206	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85847	0.5792	L	0.45285	1.41	0.09310	N	1	P	0.47302	0.893	P	0.46510	0.519	T	0.77286	-0.2644	9	0.87932	D	0	.	7.2253	0.26012	0.0:0.0:0.0:1.0	.	106	P24158	PRTN3_HUMAN	S	106;65	ENSP00000234347:F106S	ENSP00000234347:F106S	F	+	2	0	PRTN3	794982	0.039000	0.19947	0.002000	0.10522	0.001000	0.01503	1.831000	0.39141	1.282000	0.44496	0.398000	0.26397	TTT	PRTN3	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000196415		0.667	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTN3	HGNC	protein_coding	OTTHUMT00000457888.2	-	0	62	0	T	NM_002777		843982	1	tier1	-	no_errors	ENST00000234347	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.003	C	C	843982	T	C	843982	3	2	84	1	0	0	0	0	1	0	0	0	12681	1841	64	4	327	4	PRTN3	19	843982	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09		843982	58285001	297	22492											
SH3GL1	6455	genome.wustl.edu	37	chr19	4361666	4361666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgactggccgtccagcatGccctcgtaccagttctcatc	6	9	8	18	3	1	0	1	0	1	0	5	1	2	0	5	1	3	3	5	1	1	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:4361666G>A	ENST00000269886.3	-	10	1216	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	SH3GL1_ENST00000598564.1_Silent_p.G282G|SH3GL1_ENST00000417295.2_Silent_p.G298G|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	346	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CGTCCAGCATGCCCTCGTACC	0.657			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													105	74	85					19																	4361666		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.1038C>T	19.37:g.4361666G>A			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.G346	ENST00000269886.3	37	c.1038	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000141985		0.657	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1	-	0	82	0	G	NM_003025		4361666	-1	tier1	-	no_errors	ENST00000269886	ensembl	human	known	74_37	silent	40.58	41	28	SNP	0.964	A	A	4361666	G	A	4361666	2	1	84	1	0	0	0	0	0	0	0	1	14295	1306	46	3		3	SH3GL1	19	4361666	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3517684	4361666	54767317	298	22493											
SLC25A23	79085	genome.wustl.edu	37	chr19	6457545	6457545	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcagcctgctccagcgAgatggaaatgcccagagctc	9	9	10	13	1	1	2	1	0	1	2	4	4	2	3	3	1	5	2	3	1	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:6457545A>T	ENST00000301454.4	-	3	446	c.340T>A	c.(340-342)Tcg>Acg	p.S114T	SLC25A23_ENST00000334510.5_Missense_Mutation_p.S114T|SLC25A23_ENST00000414491.2_5'Flank	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	114	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						TGCTCCAGCGAGATGGAAATG	0.557																																																	0													60	58	59					19																	6457545		2203	4300	6503	SO:0001583	missense	0			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"Solute carriers", "EF-hand domain containing"	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.340T>A	19.37:g.6457545A>T	ENSP00000301454:p.Ser114Thr		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.S114T	ENST00000301454.4	37	c.340	CCDS32882.1	19	.	.	.	.	.	.	.	.	.	.	A	3.151	-0.174161	0.06421	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	T;T;T	0.38887	1.11;1.11;1.11	4.69	-2.23	0.06930	EF-hand-like domain (1);	0.548916	0.18664	N	0.134628	T	0.32194	0.0821	L	0.39245	1.2	0.25304	N	0.989252	B	0.14012	0.009	B	0.23574	0.047	T	0.09684	-1.0663	10	0.36615	T	0.2	-3.1758	12.6055	0.56521	0.3776:0.0:0.0:0.6224	.	114	Q9BV35	SCMC3_HUMAN	T	114	ENSP00000264088:S114T;ENSP00000301454:S114T;ENSP00000334537:S114T	ENSP00000264088:S114T	S	-	1	0	SLC25A23	6408545	0.998000	0.40836	0.051000	0.19133	0.077000	0.17291	0.620000	0.24403	-1.668000	0.01471	-2.559000	0.00174	TCG	SLC25A23	-	pfscan_EF_hand_dom	ENSG00000125648		0.557	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A23	HGNC	protein_coding	OTTHUMT00000453325.1		0	32	0	A	NM_024103		6457545	-1			no_errors	ENST00000264088	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.684	T	T	6457545	A	T	6457545	3	4	84	1	0	0	0	0	1	0	0	0	14531	304	11	5	1098	5	SLC25A23	19	6457545	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2095879	6457545	52671438	299	22494											
MUC16	94025	genome.wustl.edu	37	chr19	9083725	9083725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttactgtcttaagaaccAgtgcatcaccatttgaggtc	11	13	7	10	0	2	2	1	1	1	1	3	2	2	2	2	1	4	1	2	1	4	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:9083725A>G	ENST00000397910.4	-	1	8293	c.8090T>C	c.(8089-8091)cTg>cCg	p.L2697P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2697	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTAAGAACCAGTGCATCACC	0.488																																																	0													112	105	107					19																	9083725		1944	4137	6081	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8090T>C	19.37:g.9083725A>G	ENSP00000381008:p.Leu2697Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L2697P	ENST00000397910.4	37	c.8090	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	6.939	0.542931	0.13250	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	0.235	0.235	0.15431	.	.	.	.	.	T	0.05273	0.0140	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.68039	0.955	T	0.41466	-0.9507	7	0.87932	D	0	.	.	.	.	.	2697	B5ME49	.	P	2697	ENSP00000381008:L2697P	ENSP00000381008:L2697P	L	-	2	0	MUC16	8944725	0.382000	0.25148	0.690000	0.30148	0.694000	0.40290	0.349000	0.20055	0.263000	0.21812	0.260000	0.18958	CTG	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	40	0	A	NM_024690		9083725	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.776	G	G	9083725	A	G	9083725	3	3	84	1	0	0	0	0	1	0	0	0	10011	188	7	4	35769	4	MUC16	19	9083725	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2626180	9083725	50045258	300	22495											
PDE4A	5141	genome.wustl.edu	37	chr19	10572336	10572336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgccagcggcagagcctaCgcaagatggtcatcgacatg	11	5	13	12	4	1	2	1	0	0	2	2	3	1	2	2	2	4	2	2	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:10572336C>T	ENST00000352831.6	+	12	1710	c.1600C>T	c.(1600-1602)Cgc>Tgc	p.R534C	PDE4A_ENST00000380702.2_Missense_Mutation_p.R512C|PDE4A_ENST00000293683.5_Missense_Mutation_p.R508C|PDE4A_ENST00000592685.1_Missense_Mutation_p.R512C|PDE4A_ENST00000344979.3_Missense_Mutation_p.R295C|PDE4A_ENST00000440014.2_Missense_Mutation_p.R473C	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	534	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCAGAGCCTACGCAAGATGGT	0.637																																																	0													47	46	46					19																	10572336		2203	4300	6503	SO:0001583	missense	0				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1600C>T	19.37:g.10572336C>T	ENSP00000270474:p.Arg534Cys		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.R534C	ENST00000352831.6	37	c.1600	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.151131	0.78001	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	3.92	3.92	0.45320	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	H	0.98542	4.26	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.998;1.0;1.0	D	0.91402	0.5144	10	0.87932	D	0	.	8.8009	0.34907	0.2249:0.7751:0.0:0.0	.	200;295;473;508;534	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	C	512;534;508;473;295;200	ENSP00000370078:R512C;ENSP00000270474:R534C;ENSP00000293683:R508C;ENSP00000394754:R473C;ENSP00000341007:R295C	ENSP00000293683:R508C	R	+	1	0	PDE4A	10433336	0.971000	0.33674	1.000000	0.80357	0.962000	0.63368	0.650000	0.24858	2.032000	0.59987	0.585000	0.79938	CGC	PDE4A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000065989		0.637	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1	-	0	51	0	C			10572336	1	tier1	-	no_errors	ENST00000352831	ensembl	human	known	74_37	missense	45.24	23	19	SNP	1.000	T	T	10572336	C	T	10572336	3	4	84	1	0	0	0	0	1	0	0	0	11678	536	19	1	2103	1	PDE4A	19	10572336	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1488611	10572336	48556647	301	22496											
EPOR	2057	genome.wustl.edu	37	chr19	11491847	11491847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtccggccccgcaggttGctcagcacacactcggtgcg	5	6	13	17	6	1	0	1	0	0	0	3	0	2	0	3	3	3	4	3	3	0	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:11491847G>A	ENST00000222139.6	-	5	728	c.624C>T	c.(622-624)agC>agT	p.S208S	EPOR_ENST00000592375.2_Silent_p.S208S	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	208	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	CCCGCAGGTTGCTCAGCACAC	0.687											OREG0025255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													4	5	4					19																	11491847		2021	4006	6027	SO:0001819	synonymous_variant	0			M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"Fibronectin type III domain containing"	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.624C>T	19.37:g.11491847G>A		672	B2RCG4|Q15443|Q2M205	Silent	SNP	pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S208	ENST00000222139.6	37	c.624	CCDS12260.1	19																																																																																			EPOR	-	pirsf_Erythropoietin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187266		0.687	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPOR	HGNC	protein_coding	OTTHUMT00000458791.1	-	0	37	0	G			11491847	-1	tier1	-	no_errors	ENST00000222139	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A	A	11491847	G	A	11491847	2	1	84	1	0	0	0	0	0	0	0	1	5205	1310	46	3		3	EPOR	19	11491847	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	919511	11491847	47637136	302	22497											
TSHZ3	57616	genome.wustl.edu	37	chr19	31769655	31769655	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgaagtgcatcgttGgtgtctgagatggtggcttt	5	17	13	6	1	3	2	0	2	3	1	4	3	3	2	0	3	1	3	0	3	1	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:31769655G>T	ENST00000240587.4	-	2	1371	c.1044C>A	c.(1042-1044)acC>acA	p.T348T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	348					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N166fs*16(1)|p.N349fs*16(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGCATCGTTGGTGTCTGAGA	0.557																																																	2	Insertion - Frameshift(2)	prostate(2)											247	238	241					19																	31769655		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1044C>A	19.37:g.31769655G>T			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.T348	ENST00000240587.4	37	c.1044	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	-	0	41	0	G	NM_020856		31769655	-1	tier1	-	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	70.37	8	19	SNP	0.012	T	T	31769655	G	T	31769655	2	4	84	1	0	0	0	0	0	0	0	1	16673	1335	47	3		3	TSHZ3	19	31769655	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	20277808	31769655	27359328	303	22498											
RHPN2	85415	genome.wustl.edu	37	chr19	33486951	33486951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacaacactgggggcgtcGatcaggttcagcaggtcatc	10	7	12	12	2	3	0	3	0	0	0	5	1	3	0	1	4	3	2	1	4	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:33486951G>A	ENST00000254260.3	-	11	1436	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	RHPN2_ENST00000400226.4_Silent_p.I316I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	467					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TGGGGGCGTCGATCAGGTTCA	0.622																																																	0													84	65	72					19																	33486951		2203	4300	6503	SO:0001819	synonymous_variant	0			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1401C>T	19.37:g.33486951G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.I467	ENST00000254260.3	37	c.1401	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom	ENSG00000131941		0.622	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	-	0	84	0	G	NM_033103		33486951	-1	tier1	-	no_errors	ENST00000254260	ensembl	human	known	74_37	silent	31.71	56	26	SNP	0.000	A	A	33486951	G	A	33486951	2	1	84	1	0	0	0	0	0	0	0	1	13396	1048	37	1		1	RHPN2	19	33486951	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1717296	33486951	25642032	304	22499											
KIAA0355	9710	genome.wustl.edu	37	chr19	34818396	34818396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagttcaacaactcttttGttctcaaagtgcagcaattc	12	14	6	9	0	3	1	2	1	2	0	5	1	3	1	0	0	4	4	0	0	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:34818396G>T	ENST00000299505.6	+	4	1649	c.776G>T	c.(775-777)tGt>tTt	p.C259F		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	259										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAACTCTTTTGTTCTCAAAGT	0.388																																																	0													110	120	117					19																	34818396		2203	4300	6503	SO:0001583	missense	0				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.776G>T	19.37:g.34818396G>T	ENSP00000299505:p.Cys259Phe		Q2M3W4	Missense_Mutation	SNP	NULL	p.C259F	ENST00000299505.6	37	c.776	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464106	0.84425	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.71414	-0.4600	9	0.87932	D	0	-24.0394	19.3067	0.94165	0.0:0.0:1.0:0.0	.	259	O15063	K0355_HUMAN	F	259	.	ENSP00000299505:C259F	C	+	2	0	KIAA0355	39510236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.400000	0.97290	2.580000	0.87095	0.544000	0.68410	TGT	KIAA0355	-	NULL	ENSG00000166398		0.388	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	-	0	48	0	G	NM_014686		34818396	1	tier1	-	no_errors	ENST00000299505	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	34818396	G	T	34818396	3	4	84	1	0	0	0	0	1	0	0	0	8197	1377	48	3	786	3	KIAA0355	19	34818396	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1331445	34818396	24310587	305	22500											
ZNF585B	92285	genome.wustl.edu	37	chr19	37676130	37676130	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctcacactgtttctctCaagcgtggctgctctgatga	6	16	8	11	1	4	2	2	2	3	0	6	2	4	2	0	1	2	3	0	1	1	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:37676130C>G	ENST00000532828.2	-	5	2560	c.2309G>C	c.(2308-2310)tGa>tCa	p.*770S	ZNF585B_ENST00000312908.5_Nonstop_Mutation_p.*358S|ZNF585B_ENST00000531805.1_Nonstop_Mutation_p.*715S|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTTTCTCTCAAGCGTGGCT	0.448																																					Melanoma(93;882 1454 18863 28917 48427)												0													103	94	97					19																	37676130		2203	4300	6503	SO:0001578	stop_lost	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"Zinc fingers, C2H2-type", "-"	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2309G>C	19.37:g.37676130C>G			Q8IZD3|Q96JW6	Nonstop_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.*770S	ENST00000532828.2	37	c.2309	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	C	3.449	-0.112346	0.06881	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	.	.	.	2.72	-2.9	0.05648	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.6518	0.08206	0.0:0.4374:0.1909:0.3717	.	.	.	.	S	715;770;358	.	.	X	-	2	2	ZNF585B	42367970	0.000000	0.05858	0.000000	0.03702	0.206000	0.24218	0.279000	0.18771	-0.710000	0.05001	0.305000	0.20034	TGA	ZNF585B	-	NULL	ENSG00000245680		0.448	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0	48	0	C	NM_152279		37676130	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	nonstop	32.65	33	16	SNP	0.984	G	G	37676130	C	G	37676130	4	3	84	1	0	0	0	0	0	0	0	0	18066	837	29	5	4	5	ZNF585B	19	37676130	Nonstop_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2857734	37676130	21452853	306	22501											
ZNF570	148268	genome.wustl.edu	37	chr19	37975537	37975537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtatcgaatgtgggaaagCatttagcaacagatcatcca	15	10	9	7	1	1	1	1	0	0	1	3	3	2	2	1	1	3	3	1	1	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:37975537C>A	ENST00000330173.1	+	5	1542	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	ZNF570_ENST00000388801.3_Missense_Mutation_p.A135E|ZNF570_ENST00000586475.1_Missense_Mutation_p.A394E	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAAGCATTTAGCAAC	0.443																																																	0													107	100	103					19																	37975537		2203	4300	6503	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1013C>A	19.37:g.37975537C>A	ENSP00000331540:p.Ala338Glu		A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A338E	ENST00000330173.1	37	c.1013	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	C	13.69	2.310988	0.40895	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.35789	1.29;1.29	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42420	D	0.000704	T	0.42743	0.1216	N	0.21617	0.685	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.967;0.984	T	0.18398	-1.0338	10	0.87932	D	0	.	10.9288	0.47205	0.0:0.6832:0.3168:0.0	.	135;338	B4DMP1;Q96NI8	.;ZN570_HUMAN	E	338;135	ENSP00000331540:A338E;ENSP00000373453:A135E	ENSP00000331540:A338E	A	+	2	0	ZNF570	42667377	0.000000	0.05858	0.992000	0.48379	0.931000	0.56810	0.346000	0.19997	2.317000	0.78254	0.563000	0.77884	GCA	ZNF570	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.443	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0	48	0	C	NM_144694		37975537	1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.028	A	A	37975537	C	A	37975537	3	1	84	1	0	0	0	0	1	0	0	0	18050	710	25	3	1027	3	ZNF570	19	37975537	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	299407	37975537	21153446	307	22502											
LRFN1	57622	genome.wustl.edu	37	chr19	39804743	39804743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtctgcccggcgtggCgatgtcagaggagccgggct	5	7	17	12	4	2	1	1	0	1	1	2	3	2	2	3	5	2	1	3	5	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:39804743C>T	ENST00000248668.4	-	1	1233	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	412						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCGGCGTGGCGATGTCAGAG	0.711																																																	0													16	20	19					19																	39804743		2051	4174	6225	SO:0001583	missense	0			BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1234G>A	19.37:g.39804743C>T	ENSP00000248668:p.Ala412Thr		Q8TBS9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A412T	ENST00000248668.4	37	c.1234	CCDS46071.1	19	.	.	.	.	.	.	.	.	.	.	C	8.525	0.869591	0.17322	.	.	ENSG00000128011	ENST00000248668	T	0.60920	0.15	4.53	4.53	0.55603	.	0.000000	0.44483	D	0.000443	T	0.26122	0.0637	N	0.03608	-0.345	0.37153	D	0.902246	B	0.24317	0.101	B	0.19391	0.025	T	0.33007	-0.9885	10	0.02654	T	1	.	8.3951	0.32553	0.0:0.895:0.0:0.105	.	412	Q9P244	LRFN1_HUMAN	T	412	ENSP00000248668:A412T	ENSP00000248668:A412T	A	-	1	0	LRFN1	44496583	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	1.240000	0.32731	2.352000	0.79861	0.655000	0.94253	GCC	LRFN1	-	NULL	ENSG00000128011		0.711	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN1	HGNC	protein_coding	OTTHUMT00000463835.1	-	0	41	0	C	NM_020862		39804743	-1	tier1	-	no_errors	ENST00000248668	ensembl	human	known	74_37	missense	19.61	40	10	SNP	1.000	T	T	39804743	C	T	39804743	3	4	84	1	0	0	0	0	1	0	0	0	8972	768	27	1	1089	1	LRFN1	19	39804743	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	1829206	39804743	19324240	308	22503											
FCGBP	8857	genome.wustl.edu	37	chr19	40433477	40433477	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggccacaacgaaggccaaAtcatagcgagattgggaggc	13	5	13	10	2	1	1	1	0	0	1	1	4	1	2	2	4	2	0	2	4	4	2	rs377296494		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:40433477A>T	ENST00000221347.6	-	2	799	c.792T>A	c.(790-792)gaT>gaA	p.D264E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	264	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGAAGGCCAAATCATAGCGAG	0.577																																																	0													58	51	53					19																	40433477		2203	4300	6503	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.792T>A	19.37:g.40433477A>T	ENSP00000221347:p.Asp264Glu		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.D264E	ENST00000221347.6	37	c.792	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	A	7.114	0.576604	0.13686	.	.	ENSG00000090920	ENST00000221347	T	0.21734	1.99	4.33	1.1	0.20463	.	0.000000	0.64402	D	0.000005	T	0.36908	0.0984	M	0.64170	1.965	0.09310	N	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.08953	-1.0697	10	0.66056	D	0.02	.	7.8775	0.29603	0.6434:0.0:0.3566:0.0	.	264	Q9Y6R7	FCGBP_HUMAN	E	264	ENSP00000221347:D264E	ENSP00000221347:D264E	D	-	3	2	FCGBP	45125317	0.042000	0.20092	0.033000	0.17914	0.018000	0.09664	0.267000	0.18552	0.105000	0.17753	-0.290000	0.09829	GAT	FCGBP	-	NULL	ENSG00000090920		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0	18	0	A	NM_003890		40433477	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.227	T	T	40433477	A	T	40433477	3	4	84	1	0	0	0	0	1	0	0	0	5800	98	4	5	15565	5	FCGBP	19	40433477	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	628734	40433477	18695506	309	22504											
CD79A	973	genome.wustl.edu	37	chr19	42383164	42383164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaatagcagcaacaacGccaacgtcacctggtggcgc	12	4	10	15	4	1	0	1	0	0	0	1	0	1	0	2	2	5	3	2	2	5	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:42383164G>A	ENST00000221972.3	+	2	369	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	CD79A_ENST00000444740.2_Missense_Mutation_p.A62T	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	62	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CAGCAACAACGCCAACGTCAC	0.612			"O, S"		DLBCL																																			Dom	yes		19	19q13.2	973	"CD79a molecule, immunoglobulin-associated alpha"		L	0													104	82	90					19																	42383164		2203	4300	6503	SO:0001583	missense	0			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1698	protein-coding gene	gene with protein product		112205	"CD79A antigen (immunoglobulin-associated alpha)"	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.184G>A	19.37:g.42383164G>A	ENSP00000221972:p.Ala62Thr		A0N775|Q53FB8	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom	p.A62T	ENST00000221972.3	37	c.184	CCDS12589.1	19	.	.	.	.	.	.	.	.	.	.	G	7.885	0.731114	0.15507	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.80214	-1.35	5.06	-10.1	0.00402	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.40932	0.1137	N	0.00621	-1.32	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.04013	0.001;0.0	T	0.44742	-0.9308	9	0.17369	T	0.5	-1.9842	5.6097	0.17398	0.2995:0.1068:0.4726:0.1211	.	62;62	P11912;A0N775	CD79A_HUMAN;.	T	62	ENSP00000221972:A62T	ENSP00000221972:A62T	A	+	1	0	CD79A	47075004	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.979000	0.00321	-2.734000	0.00382	-0.910000	0.02820	GCC	CD79A	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105369		0.612	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79A	HGNC	protein_coding	OTTHUMT00000463058.1	-	0	57	0	G			42383164	1	tier1	-	no_errors	ENST00000221972	ensembl	human	known	74_37	missense	38.78	30	19	SNP	0.000	A	A	42383164	G	A	42383164	3	1	84	1	0	0	0	0	1	0	0	0	3043	1087	38	1	190	1	CD79A	19	42383164	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1949687	42383164	16745819	310	22505											
PSG6	5675	genome.wustl.edu	37	chr19	43421932	43421932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgcagggaggggctgAgaggggtcccatggtctctg	6	8	19	8	0	1	2	0	2	1	1	3	4	2	3	1	6	1	2	1	6	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:43421932A>G	ENST00000292125.2	-	1	57	c.13T>C	c.(13-15)Tca>Cca	p.S5P	PSG6_ENST00000402603.4_Missense_Mutation_p.S5P|PSG6_ENST00000601833.1_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.S5P	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	5					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GGAGGGGCTGAGAGGGGTCCC	0.597																																																	0													138	118	125					19																	43421932		2201	4300	6501	SO:0001583	missense	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.13T>C	19.37:g.43421932A>G	ENSP00000292125:p.Ser5Pro		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S5P	ENST00000292125.2	37	c.13	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	a	5.971	0.363043	0.11296	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.35605	1.3;1.63;1.31	1.47	0.288	0.15719	.	.	.	.	.	T	0.36331	0.0963	M	0.80028	2.48	0.09310	N	1	B;B;B	0.17667	0.003;0.023;0.011	B;B;B	0.21917	0.016;0.037;0.012	T	0.43015	-0.9417	9	0.54805	T	0.06	.	3.4155	0.07375	0.6402:0.0:0.0:0.3598	.	5;5;5	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	P	5	ENSP00000187910:S5P;ENSP00000385736:S5P;ENSP00000292125:S5P	ENSP00000187910:S5P	S	-	1	0	PSG6	48113772	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.010000	0.13242	0.023000	0.15187	0.163000	0.16589	TCA	PSG6	-	NULL	ENSG00000170848		0.597	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	-	0	114	0	A	NM_002782		43421932	-1	tier1	-	no_errors	ENST00000292125	ensembl	human	known	74_37	missense	23.18	115	35	SNP	0.001	G	G	43421932	A	G	43421932	3	3	84	1	0	0	0	0	1	0	0	0	12701	304	11	4	1357	4	PSG6	19	43421932	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	1038768	43421932	15707051	311	22506											
ZNF428	126299	genome.wustl.edu	37	chr19	44111802	44111802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgggcatgcagcatgaagtgCccgtgcagctcccccaggtt	7	7	13	14	2	0	1	0	1	0	0	1	1	1	1	3	2	5	6	3	2	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:44111802C>T	ENST00000300811.3	-	3	980	c.534G>A	c.(532-534)ggG>ggA	p.G178G	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	178							metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				GCATGAAGTGCCCGTGCAGCT	0.637																																																	0													91	69	77					19																	44111802		2203	4300	6503	SO:0001819	synonymous_variant	0			AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"Zinc fingers, C2H2-type"	20804	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 37"	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.534G>A	19.37:g.44111802C>T			O95054|Q6X3Y3	Silent	SNP	pfscan_Znf_C2H2	p.G178	ENST00000300811.3	37	c.534	CCDS12626.1	19																																																																																			ZNF428	-	pfscan_Znf_C2H2	ENSG00000131116		0.637	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF428	HGNC	protein_coding	OTTHUMT00000463349.1	-	0	50	0	C	NM_182498		44111802	-1	tier1	-	no_errors	ENST00000300811	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.913	T	T	44111802	C	T	44111802	2	4	84	1	0	0	0	0	0	0	0	1	17949	726	26	3		3	ZNF428	19	44111802	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	689870	44111802	15017181	312	22507											
IRGC	56269	genome.wustl.edu	37	chr19	44222750	44222750	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtggtgcctggggaggagGaaaacaccatccttatggcc	9	7	14	11	1	0	0	0	0	0	0	1	3	1	3	5	6	2	0	5	6	3	1	rs552383567		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:44222750G>T	ENST00000244314.5	+	2	239	c.40G>T	c.(40-42)Gaa>Taa	p.E14*		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	14						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TGGGGAGGAGGAAAACACCAT	0.627																																					Colon(189;350 2037 11447 13433 38914)												0													76	79	78					19																	44222750		2203	4300	6503	SO:0001587	stop_gained	0			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"immunity-related GTPase family, cinema 1"	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.40G>T	19.37:g.44222750G>T	ENSP00000244314:p.Glu14*		Q05BR8	Nonsense_Mutation	SNP	pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase	p.E14*	ENST00000244314.5	37	c.40	CCDS12629.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.667251	0.96745	.	.	ENSG00000124449	ENST00000244314	.	.	.	5.39	5.39	0.77823	.	0.436171	0.19877	N	0.104064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	16.6944	0.85330	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000244314:E14X	E	+	1	0	IRGC	48914590	0.986000	0.35501	1.000000	0.80357	0.754000	0.42855	2.723000	0.47277	2.540000	0.85666	0.549000	0.68633	GAA	IRGC	-	NULL	ENSG00000124449		0.627	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1		0	30	0	G	NM_019612		44222750	1			no_errors	ENST00000244314	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T	T	44222750	G	T	44222750	4	4	84	1	0	0	0	0	0	1	0	0	7865	1175	41	3	42	3	IRGC	19	44222750	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	110948	44222750	14906233	313	22508											
CD33	945	genome.wustl.edu	37	chr19	51729310	51729310	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggagctggtgtgactacgGagagaaccatccagctcaac	11	7	12	11	1	1	2	1	1	0	1	2	5	2	4	2	3	5	2	2	3	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:51729310G>T	ENST00000262262.4	+	3	691	c.670G>T	c.(670-672)Gag>Tag	p.E224*	CD33_ENST00000421133.2_Nonsense_Mutation_p.E97*|CD33_ENST00000436584.2_Nonsense_Mutation_p.E97*|CD33_ENST00000391796.3_Nonsense_Mutation_p.E224*	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	224	Ig-like C2-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTGACTACGGAGAGAACCAT	0.602																																																	0													45	42	43					19																	51729310		2203	4300	6503	SO:0001587	stop_gained	0			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1659	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 3"	159590	"CD33 antigen (gp67)"			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.670G>T	19.37:g.51729310G>T	ENSP00000262262:p.Glu224*		B4E3P8|C9JEN7|F8WAL2|Q8TD24	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.E224*	ENST00000262262.4	37	c.670	CCDS33084.1	19	.	.	.	.	.	.	.	.	.	.	.	17.55	3.418003	0.62622	.	.	ENSG00000105383	ENST00000436584;ENST00000262262;ENST00000421133;ENST00000391796	.	.	.	3.08	0.727	0.18254	.	0.234953	0.21503	U	0.073490	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	4.2898	0.10872	0.1409:0.2366:0.6225:0.0	.	.	.	.	X	97;224;97;224	.	ENSP00000262262:E224X	E	+	1	0	CD33	56421122	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	1.096000	0.30976	0.132000	0.18615	-0.379000	0.06801	GAG	CD33	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105383		0.602	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD33	HGNC	protein_coding	OTTHUMT00000464199.2	-	0	35	0	G	NM_001772		51729310	1	tier1	-	no_errors	ENST00000262262	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.007	T	T	51729310	G	T	51729310	4	4	84	1	0	0	0	0	0	1	0	0	3012	1175	41	3	680	3	CD33	19	51729310	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	7506560	51729310	7399673	314	22509											
TMC4	147798	genome.wustl.edu	37	chr19	54669205	54669205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacgtggacgtccccgCagagaccgaagtcccaggcc	8	3	13	17	5	0	1	0	0	0	1	2	4	2	2	6	2	0	2	6	2	1	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:54669205C>A	ENST00000376591.4	-	6	1042	c.911G>T	c.(910-912)tGc>tTc	p.C304F	TMC4_ENST00000476013.2_Intron|TMC4_ENST00000301187.4_Missense_Mutation_p.C298F|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	304					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GACGTCCCCGCAGAGACCGAA	0.627																																																	0													42	37	39					19																	54669205		2203	4300	6503	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.911G>T	19.37:g.54669205C>A	ENSP00000365776:p.Cys304Phe		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.C298F	ENST00000376591.4	37	c.893	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556630	0.27827	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.42131	0.98;0.98	4.8	2.53	0.30540	.	0.928718	0.09318	N	0.818622	T	0.34978	0.0916	L	0.56769	1.78	0.09310	N	0.999999	B;B	0.30281	0.275;0.083	B;B	0.33960	0.126;0.173	T	0.35051	-0.9804	10	0.10111	T	0.7	-4.6334	5.5515	0.17093	0.0:0.6875:0.2047:0.1078	.	304;298	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	F	298;304	ENSP00000301187:C298F;ENSP00000365776:C304F	ENSP00000301187:C298F	C	-	2	0	TMC4	59361017	0.000000	0.05858	0.700000	0.30305	0.642000	0.38348	-0.117000	0.10708	2.418000	0.82041	0.650000	0.86243	TGC	TMC4	-	NULL	ENSG00000167608		0.627	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0	69	0	C			54669205	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	missense	30.56	50	22	SNP	0.004	A	A	54669205	C	A	54669205	3	1	84	1	0	0	0	0	1	0	0	0	16034	710	25	3	1267	3	TMC4	19	54669205	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2939895	54669205	4459778	315	22510											
FCAR	2204	genome.wustl.edu	37	chr19	55386812	55386812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgggccagaggattcagGcacaggaaggtaagtgtcct	10	8	15	8	0	2	1	1	0	1	1	3	3	3	3	2	5	0	2	2	5	2	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:55386812G>T	ENST00000355524.3	+	2	71	c.61G>T	c.(61-63)Gca>Tca	p.A21S	FCAR_ENST00000359272.4_Intron|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000391725.3_Missense_Mutation_p.A21S|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.A21S|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000469767.1_Missense_Mutation_p.A21S	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	21					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GAGGATTCAGGCACAGGAAGG	0.448																																																	0													157	158	157					19																	55386812		2203	4300	6503	SO:0001583	missense	0			X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.61G>T	19.37:g.55386812G>T	ENSP00000347714:p.Ala21Ser		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	smart_Ig_sub	p.A21S	ENST00000355524.3	37	c.61	CCDS12907.1	19	.	.	.	.	.	.	.	.	.	.	G	9.359	1.067464	0.20067	.	.	ENSG00000186431	ENST00000433231;ENST00000355524;ENST00000391725;ENST00000345937	T;T;T	0.01313	6.81;6.69;5.02	2.96	0.744	0.18353	.	.	.	.	.	T	0.05318	0.0141	M	0.69823	2.125	0.09310	N	1	D;B;B;D	0.76494	0.999;0.135;0.404;0.997	D;B;B;D	0.69479	0.964;0.084;0.172;0.922	T	0.31110	-0.9955	9	0.72032	D	0.01	.	5.0583	0.14544	0.2988:0.0:0.7012:0.0	.	21;21;21;21	Q53X39;P24071-3;P24071;P24071-4	.;.;FCAR_HUMAN;.	S	21	ENSP00000347714:A21S;ENSP00000375605:A21S;ENSP00000338257:A21S	ENSP00000338257:A21S	A	+	1	0	FCAR	60078624	0.000000	0.05858	0.001000	0.08648	0.990000	0.78478	0.073000	0.14640	0.124000	0.18369	0.455000	0.32223	GCA	FCAR	-	NULL	ENSG00000186431		0.448	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCAR	HGNC	protein_coding	OTTHUMT00000141243.1	-	0	31	0	G	NM_002000		55386812	1	tier1	-	no_errors	ENST00000355524	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.013	T	T	55386812	G	T	55386812	3	4	84	1	0	0	0	0	1	0	0	0	5795	1203	42	3	67	3	FCAR	19	55386812	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	717607	55386812	3742171	316	22511											
NCR1	9437	genome.wustl.edu	37	chr19	55420679	55420679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggtgaccttctactGccgtctagacactgcaacaa	13	8	9	11	1	2	3	0	1	2	2	2	4	2	3	2	1	4	1	2	1	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:55420679G>T	ENST00000291890.4	+	4	469	c.431G>T	c.(430-432)tGc>tTc	p.C144F	NCR1_ENST00000594765.1_Missense_Mutation_p.C144F|NCR1_ENST00000350790.5_Missense_Mutation_p.C49F|NCR1_ENST00000447255.1_Missense_Mutation_p.C144F|NCR1_ENST00000598576.1_Missense_Mutation_p.C132F|NCR1_ENST00000357397.5_Missense_Mutation_p.C37F|NCR1_ENST00000338835.5_Missense_Mutation_p.C144F	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	144	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCTTCTACTGCCGTCTAGAC	0.562																																																	0													111	87	95					19																	55420679		2203	4300	6503	SO:0001583	missense	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.431G>T	19.37:g.55420679G>T	ENSP00000291890:p.Cys144Phe		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	smart_Ig_sub	p.C144F	ENST00000291890.4	37	c.431	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669549	0.47677	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	3.53	3.53	0.40419	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	T	0.64918	0.2642	H	0.95917	3.74	0.20307	N	0.999919	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.61466	-0.7057	10	0.87932	D	0	.	10.8815	0.46942	0.0:0.0:1.0:0.0	.	37;49;144;49;144;144	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	F	144;144;144;49;37	ENSP00000291890:C144F;ENSP00000404434:C144F;ENSP00000339515:C144F;ENSP00000344358:C49F;ENSP00000349972:C37F	ENSP00000291890:C144F	C	+	2	0	NCR1	60112491	0.486000	0.25980	0.145000	0.22337	0.056000	0.15407	3.290000	0.51755	2.284000	0.76573	0.591000	0.81541	TGC	NCR1	-	smart_Ig_sub	ENSG00000189430		0.562	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	-	0	39	0	G			55420679	1	tier1	-	no_errors	ENST00000291890	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.150	T	T	55420679	G	T	55420679	3	4	84	1	0	0	0	0	1	0	0	0	10276	1319	46	3	445	3	NCR1	19	55420679	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	33867	55420679	3708304	317	22512											
ZNF583	147949	genome.wustl.edu	37	chr19	56935519	56935519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatgaatgtaatgtttgtGggaaagcatttagctatagt	12	16	10	3	0	0	1	0	1	0	0	0	2	0	2	0	1	2	4	0	1	7	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:56935519G>T	ENST00000333201.9	+	5	1702	c.1492G>T	c.(1492-1494)Ggg>Tgg	p.G498W	ZNF583_ENST00000291598.7_Missense_Mutation_p.G498W|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TAATGTTTGTGGGAAAGCATT	0.378																																																	0													106	111	109					19																	56935519		2203	4300	6503	SO:0001583	missense	0			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"Zinc fingers, C2H2-type", "-"	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1492G>T	19.37:g.56935519G>T	ENSP00000388502:p.Gly498Trp		O14850|Q2NKK3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G498W	ENST00000333201.9	37	c.1492	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192648	0.58017	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07800	3.16;3.16	4.65	-1.82	0.07857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000358	T	0.30916	0.0780	H	0.96633	3.855	0.33959	D	0.645377	D	0.89917	1.0	D	0.91635	0.999	T	0.29488	-1.0010	9	.	.	.	.	2.225	0.03981	0.2956:0.1203:0.4609:0.1232	.	498	Q96ND8	ZN583_HUMAN	W	498	ENSP00000291598:G498W;ENSP00000388502:G498W	.	G	+	1	0	ZNF583	61627331	0.985000	0.35326	0.301000	0.25044	0.996000	0.88848	0.375000	0.20518	-0.225000	0.09913	0.655000	0.94253	GGG	ZNF583	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198440		0.378	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1		0	49	0	G	NM_152478		56935519	1			no_errors	ENST00000291598	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.999	T	T	56935519	G	T	56935519	3	4	84	1	0	0	0	0	1	0	0	0	18063	1348	47	3	1506	3	ZNF583	19	56935519	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1514840	56935519	2193464	318	22513											
ZNF667	63934	genome.wustl.edu	37	chr19	56972109	56972109	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgacatcttcatacaaatCcttctgaatggggctcagcc	11	11	7	12	0	4	2	2	2	2	0	5	2	5	2	2	2	2	1	2	2	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr19:56972109C>G	ENST00000504904.3	-	5	828	c.109G>C	c.(109-111)Gat>Cat	p.D37H	ZNF667_ENST00000292069.6_Missense_Mutation_p.D37H|ZNF667_ENST00000591790.1_Missense_Mutation_p.D37H|ZNF667_ENST00000342634.3_Missense_Mutation_p.D130H			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCATACAAATCCTTCTGAATG	0.468																																																	0													112	102	106					19																	56972109		2203	4300	6503	SO:0001583	missense	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.109G>C	19.37:g.56972109C>G	ENSP00000439402:p.Asp37His		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D130H	ENST00000504904.3	37	c.388	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	C	9.285	1.049019	0.19827	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.01918	4.56;4.56;4.56	3.97	1.73	0.24493	Krueppel-associated box (4);	0.914087	0.09030	N	0.858806	T	0.03783	0.0107	L	0.59436	1.845	0.09310	N	0.999992	B	0.19073	0.033	B	0.15870	0.014	T	0.35126	-0.9801	10	0.56958	D	0.05	-4.9373	10.1269	0.42654	0.0:0.6014:0.3986:0.0	.	37	Q5HYK9	ZN667_HUMAN	H	130;37;37	ENSP00000344699:D130H;ENSP00000439402:D37H;ENSP00000292069:D37H	ENSP00000292069:D37H	D	-	1	0	ZNF667	61663921	0.001000	0.12720	0.205000	0.23548	0.008000	0.06430	0.473000	0.22132	0.585000	0.29608	-0.176000	0.13171	GAT	ZNF667	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198046		0.468	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	-	0	88	0	C	NM_022103		56972109	-1	tier1	-	no_errors	ENST00000342634	ensembl	human	known	74_37	missense	30.00	63	27	SNP	0.233	G	G	56972109	C	G	56972109	3	3	84	1	0	0	0	0	1	0	0	0	18122	855	30	5	1735	5	ZNF667	19	56972109	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	36590	56972109	2156874	319	22514											
TGM6	343641	genome.wustl.edu	37	chr20	2375946	2375946	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcagatggagaaaacTctgaccgtcagtctcgccag	11	7	12	11	2	4	3	2	1	2	2	5	5	4	3	2	2	1	1	2	2	2	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:2375946T>G	ENST00000202625.2	+	3	349	c.288T>G	c.(286-288)acT>acG	p.T96T	TGM6_ENST00000381423.1_Silent_p.T96T|TGM6_ENST00000477505.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	96					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGGAGAAAACTCTGACCGTCA	0.612																																																	0													72	60	64					20																	2375946		2203	4300	6503	SO:0001819	synonymous_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.288T>G	20.37:g.2375946T>G			Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.T96	ENST00000202625.2	37	c.288	CCDS13025.1	20																																																																																			TGM6	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000166948		0.612	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	HGNC	protein_coding	OTTHUMT00000077581.2	-	0	44	0	T	NM_198994		2375946	1	tier1	-	no_errors	ENST00000202625	ensembl	human	known	74_37	silent	34.38	42	22	SNP	0.000	G	G	2375946	T	G	2375946	2	3	84	1	0	0	0	0	0	0	0	1	15881	1538	54	4		4	TGM6	20	2375946	Silent	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09		2375946	60649574	320	22515											
CSRP2BP	57325	genome.wustl.edu	37	chr20	18123370	18123370	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagccacgagaacatcGacctcagaaggactggagga	15	3	13	10	3	1	2	1	0	0	2	2	9	1	5	2	3	2	0	2	3	3	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:18123370G>T	ENST00000435364.3	+	1	407	c.66G>T	c.(64-66)tcG>tcT	p.S22S	CSRP2BP_ENST00000489634.2_5'Flank|PET117_ENST00000432901.3_3'UTR|CSRP2BP_ENST00000377681.3_Silent_p.S22S	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	22					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CGAGAACATCGACCTCAGAAG	0.542																																																	0													141	104	116					20																	18123370		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"cysteine rich protein 2 binding protein", "ATAC component 2 homolog (Drosophila)"					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.66G>T	20.37:g.18123370G>T			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S22	ENST00000435364.3	37	c.66	CCDS13133.1	20																																																																																			CSRP2BP	-	NULL	ENSG00000149474		0.542	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5		0	29	0	G	NM_020536		18123370	1			no_errors	ENST00000435364	ensembl	human	known	74_37	silent	7.69	36	3	SNP	0.098	T	T	18123370	G	T	18123370	2	4	84	1	0	0	0	0	0	0	0	1	3977	1045	37	2		2	CSRP2BP	20	18123370	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	15747424	18123370	44902150	321	22516											
CD93	22918	genome.wustl.edu	37	chr20	23065077	23065077	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccacggtgcctaggatgtAgaataaaagcagcttttgcc	12	9	10	10	1	0	1	0	0	0	1	0	2	0	2	3	2	4	3	3	2	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:23065077A>G	ENST00000246006.4	-	1	1900	c.1753T>C	c.(1753-1755)Tac>Cac	p.Y585H		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	585					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTAGGATGTAGAATAAAAGC	0.607																																																	0													154	147	149					20																	23065077		2203	4300	6503	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1753T>C	20.37:g.23065077A>G	ENSP00000246006:p.Tyr585His		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.Y585H	ENST00000246006.4	37	c.1753	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	A	25.6	4.650575	0.87958	.	.	ENSG00000125810	ENST00000246006	T	0.81163	-1.46	5.84	5.84	0.93424	.	0.117859	0.38492	N	0.001667	D	0.88328	0.6407	M	0.71581	2.175	0.34252	D	0.678874	D	0.71674	0.998	D	0.65573	0.936	D	0.92796	0.6252	10	0.87932	D	0	-35.4767	15.4659	0.75400	1.0:0.0:0.0:0.0	.	585	Q9NPY3	C1QR1_HUMAN	H	585	ENSP00000246006:Y585H	ENSP00000246006:Y585H	Y	-	1	0	CD93	23013077	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	4.056000	0.57448	2.242000	0.73789	0.529000	0.55759	TAC	CD93	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000125810		0.607	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2		0	58	0	A	NM_012072		23065077	-1			no_errors	ENST00000246006	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.996	G	G	23065077	A	G	23065077	3	3	84	1	0	0	0	0	1	0	0	0	3054	420	15	4	213	4	CD93	20	23065077	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	4941707	23065077	39960443	322	22517											
TMEM90B	79953	genome.wustl.edu	37	chr20	24523983	24523983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaccctgcagcagtcagtgGagtcccgctaccggcccaac	9	5	10	17	2	1	0	1	0	0	0	2	1	2	1	4	2	4	3	4	2	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:24523983G>A	ENST00000376862.3	+	2	883	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	84					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCAGTCAGTGGAGTCCCGCTA	0.672																																																	0													45	44	44					20																	24523983		2203	4300	6503	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 5", "synapse differentiation induced gene 1"	614311	"chromosome 20 open reading frame 39", "transmembrane protein 90B"	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.250G>A	20.37:g.24523983G>A	ENSP00000366058:p.Glu84Lys		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.E84K	ENST00000376862.3	37	c.250	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111407	0.37242	.	.	ENSG00000101463	ENST00000376862	D	0.93247	-3.19	5.95	4.99	0.66335	.	0.330416	0.31660	N	0.007279	D	0.92113	0.7500	M	0.69823	2.125	0.44918	D	0.997931	B	0.27559	0.181	B	0.21151	0.033	D	0.90630	0.4566	10	0.87932	D	0	-19.8784	14.7808	0.69766	0.0:0.1575:0.8425:0.0	.	84	Q9H7V2	SYNG1_HUMAN	K	84	ENSP00000366058:E84K	ENSP00000366058:E84K	E	+	1	0	SYNDIG1	24471983	1.000000	0.71417	0.906000	0.35671	0.339000	0.28857	7.323000	0.79105	1.505000	0.48720	-0.211000	0.12701	GAG	SYNDIG1	-	NULL	ENSG00000101463		0.672	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0	53	0	G	NM_024893		24523983	1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.994	A	A	24523983	G	A	24523983	3	1	84	1	0	0	0	0	1	0	0	0	16266	1175	41	3	252	3	TMEM90B	20	24523983	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	1458906	24523983	38501537	323	22518											
CEP250	11190	genome.wustl.edu	37	chr20	34084481	34084481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactctattcgacaacaagaGctgagtgccctgcgccagga	11	7	11	12	2	1	2	0	1	1	1	2	5	1	3	2	1	4	1	2	1	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:34084481G>T	ENST00000397527.1	+	25	3963	c.3243G>T	c.(3241-3243)gaG>gaT	p.E1081D	CEP250_ENST00000342580.4_Missense_Mutation_p.E1025D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1081	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GACAACAAGAGCTGAGTGCCC	0.517																																																	0													70	65	67					20																	34084481		2203	4300	6503	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3243G>T	20.37:g.34084481G>T	ENSP00000380661:p.Glu1081Asp		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1081D	ENST00000397527.1	37	c.3243	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426928	0.83667	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.21031	2.23;2.03	4.81	4.81	0.61882	.	0.208625	0.33534	N	0.004808	T	0.24624	0.0597	L	0.36672	1.1	0.32323	N	0.562159	D	0.53312	0.959	P	0.49140	0.601	T	0.12837	-1.0532	10	0.42905	T	0.14	.	14.7151	0.69262	0.0:0.0:1.0:0.0	.	1081	Q9BV73	CP250_HUMAN	D	1081;1025	ENSP00000380661:E1081D;ENSP00000341541:E1025D	ENSP00000341541:E1025D	E	+	3	2	CEP250	33547895	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	2.828000	0.48120	2.502000	0.84385	0.650000	0.86243	GAG	CEP250	-	NULL	ENSG00000126001		0.517	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	51	0	G	NM_007186		34084481	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	34084481	G	T	34084481	3	4	84	1	0	0	0	0	1	0	0	0	3259	962	34	3	3329	3	CEP250	20	34084481	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9560498	34084481	28941039	324	22519											
ZHX3	23051	genome.wustl.edu	37	chr20	39830877	39830877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgcctgtgtctgccaCggctctggtctcctccccca	3	11	8	19	1	4	0	1	0	3	0	6	0	5	0	5	2	2	1	5	2	0	0	rs577583178		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:39830877C>T	ENST00000309060.3	-	4	3095	c.2680G>A	c.(2680-2682)Gtg>Atg	p.V894M	ZHX3_ENST00000540170.1_Missense_Mutation_p.V894M|ZHX3_ENST00000432768.2_Missense_Mutation_p.V894M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.V894M|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.V894M			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	894					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GTGTCTGCCACGGCTCTGGTC	0.557																																																	0													212	200	205					20																	39830877		2203	4300	6503	SO:0001583	missense	0			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	15935	protein-coding gene	gene with protein product		609598	"triple homeobox 1"	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2680G>A	20.37:g.39830877C>T	ENSP00000312222:p.Val894Met		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.V894M	ENST00000309060.3	37	c.2680	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.98|11.98	1.799409|1.799409	0.31869|0.31869	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000373262	.|T;T	.|0.11063	.|2.81;2.81	6.02|6.02	5.08|5.08	0.68730|0.68730	.|Homeodomain-like (1);	.|0.654140	.|0.14913	.|N	.|0.291093	T|T	0.17874|0.17874	0.0429|0.0429	L|L	0.29908|0.29908	0.895|0.895	0.29639|0.29639	N|N	0.844834|0.844834	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.60236	.|0.828;0.871	T|T	0.03993|0.03993	-1.0986|-1.0986	5|10	.|0.52906	.|T	.|0.07	-12.9776|-12.9776	10.3626|10.3626	0.44003|0.44003	0.0:0.8131:0.0:0.1869|0.0:0.8131:0.0:0.1869	.|.	.|894;894	.|A8K8Q0;Q9H4I2	.|.;ZHX3_HUMAN	H|M	602|894;894;894;672	.|ENSP00000362360:V894M;ENSP00000442290:V894M	.|ENSP00000312222:V894M	R|V	-|-	2|1	0|0	ZHX3|ZHX3	39264291|39264291	0.077000|0.077000	0.21312|0.21312	0.894000|0.894000	0.35097|0.35097	0.500000|0.500000	0.33767|0.33767	0.819000|0.819000	0.27308|0.27308	1.568000|1.568000	0.49683|0.49683	-0.137000|-0.137000	0.14449|0.14449	CGT|GTG	ZHX3	-	superfamily_Homeodomain-like	ENSG00000174306		0.557	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	-	0	59	0	C	NM_015035		39830877	-1	tier1	-	no_errors	ENST00000309060	ensembl	human	known	74_37	missense	27.14	51	19	SNP	0.724	T	T	39830877	C	T	39830877	3	4	84	1	0	0	0	0	1	0	0	0	17725	536	19	1	198	1	ZHX3	20	39830877	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	5746396	39830877	23194643	325	22520											
WFDC10A	140832	genome.wustl.edu	37	chr20	44258464	44258464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagagtcatggcaccccaGactctgctgcctgtcctggt	7	10	10	14	0	3	2	2	0	1	2	4	2	4	2	4	2	2	2	4	2	0	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:44258464G>A	ENST00000372643.3	+	1	300	c.12G>A	c.(10-12)caG>caA	p.Q4Q	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	4						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				TGGCACCCCAGACTCTGCTGC	0.562											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113	87	96					20																	44258464		2203	4300	6503	SO:0001819	synonymous_variant	0			AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"WAP four-disulfide core domain containing"	16139	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 146"	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.12G>A	20.37:g.44258464G>A		922	A2RRE9|Q5TGZ7	Silent	SNP	pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core	p.Q4	ENST00000372643.3	37	c.12	CCDS13363.1	20																																																																																			WFDC10A	-	NULL	ENSG00000180305		0.562	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC10A	HGNC	protein_coding	OTTHUMT00000106944.2	-	0	39	0	G			44258464	1	tier1	-	no_errors	ENST00000372643	ensembl	human	known	74_37	silent	27.85	57	22	SNP	0.042	A	A	44258464	G	A	44258464	2	1	84	1	0	0	0	0	0	0	0	1	17396	933	33	3		3	WFDC10A	20	44258464	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	4427587	44258464	18767056	326	22521											
NCOA5	57727	genome.wustl.edu	37	chr20	44692181	44692181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctctctctctttccTgcaggatggcttcatcggcc	3	13	9	16	1	3	0	1	0	2	0	8	1	5	1	4	4	1	2	4	4	0	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:44692181T>C	ENST00000290231.6	-	7	1132	c.968A>G	c.(967-969)cAg>cGg	p.Q323R		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTCTCTTTCCTGCAGGATGGC	0.577																																																	0													63	57	59					20																	44692181		2203	4300	6503	SO:0001583	missense	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"coactivator independent of AF-2"					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.968A>G	20.37:g.44692181T>C	ENSP00000290231:p.Gln323Arg		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	superfamily_Anticodon-bd	p.Q323R	ENST00000290231.6	37	c.968	CCDS13392.1	20	.	.	.	.	.	.	.	.	.	.	T	1.950	-0.441462	0.04604	.	.	ENSG00000124160	ENST00000290231	T	0.40756	1.02	5.41	5.41	0.78517	.	0.049993	0.85682	D	0.000000	T	0.20901	0.0503	N	0.05280	-0.08	0.33422	D	0.579945	B	0.19817	0.039	B	0.21546	0.035	T	0.17319	-1.0373	10	0.06625	T	0.88	-13.1846	13.3214	0.60434	0.0:0.0:0.0:1.0	.	323	Q9HCD5	NCOA5_HUMAN	R	323	ENSP00000290231:Q323R	ENSP00000290231:Q323R	Q	-	2	0	NCOA5	44125588	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.651000	0.54431	2.272000	0.75746	0.459000	0.35465	CAG	NCOA5	-	NULL	ENSG00000124160		0.577	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1		0	43	0	T	NM_020967		44692181	-1			no_errors	ENST00000290231	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	C	C	44692181	T	C	44692181	3	2	84	1	0	0	0	0	1	0	0	0	10271	1580	55	4	779	4	NCOA5	20	44692181	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	433717	44692181	18333339	327	22522											
CDH22	64405	genome.wustl.edu	37	chr20	44845598	44845598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagcgctcctggctctcGcggtcaaggtcaggcacagc	6	8	13	14	4	3	0	2	0	1	0	6	0	4	0	1	4	2	4	1	4	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:44845598G>A	ENST00000372262.3	-	4	1105	c.705C>T	c.(703-705)cgC>cgT	p.R235R	CDH22_ENST00000537909.1_Silent_p.R235R|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCTGGCTCTCGCGGTCAAGGT	0.657																																																	0													102	80	87					20																	44845598		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"Cadherins / Major cadherins"	13251	protein-coding gene	gene with protein product		609920	"cadherin-like 22"	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.705C>T	20.37:g.44845598G>A			B9EGK7|O43205	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R235	ENST00000372262.3	37	c.705	CCDS13395.1	20																																																																																			CDH22	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000149654		0.657	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	-	0	36	0	G	NM_021248		44845598	-1	tier1	-	no_errors	ENST00000372262	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.011	A	A	44845598	G	A	44845598	2	1	84	1	0	0	0	0	0	0	0	1	3114	1074	38	1		1	CDH22	20	44845598	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	153417	44845598	18179922	328	22523											
TUBB1	81027	genome.wustl.edu	37	chr20	57599434	57599434	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggcctgcattttcCggggcaagatgtccaccaag	9	9	11	12	1	1	1	1	0	0	1	3	1	3	1	4	3	1	2	4	3	2	2	rs121918555		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:57599434C>A	ENST00000217133.1	+	4	1221	c.952C>A	c.(952-954)Cgg>Agg	p.R318R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	318			R -> W (in MAD-TUBB1; dbSNP:rs121918555). {ECO:0000269|PubMed:18849486}.		'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CTGCATTTTCCGGGGCAAGAT	0.597																																																	0			GRCh37	CM090175	TUBB1	M	rs121918555						57	48	51					20																	57599434		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"Tubulins"	16257	protein-coding gene	gene with protein product	"class VI beta-tubulin"	612901	"tubulin, beta 1"				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.952C>A	20.37:g.57599434C>A				Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.R318	ENST00000217133.1	37	c.952	CCDS13475.1	20																																																																																			TUBB1	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin	ENSG00000101162		0.597	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB1	HGNC	protein_coding	OTTHUMT00000079903.1		0	52	0	C	NM_030773		57599434	1			no_errors	ENST00000217133	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	A	A	57599434	C	A	57599434	2	1	84	1	0	0	0	0	0	0	0	1	16802	643	23	2		2	TUBB1	20	57599434	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	12753836	57599434	5426086	329	22524											
NTSR1	4923	genome.wustl.edu	37	chr20	61386239	61386239	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacggcgtgcgcgtcctacGtacgtaacctctgggccctc	5	8	12	16	6	1	0	0	0	1	0	3	0	2	0	3	2	4	3	3	2	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr20:61386239G>A	ENST00000370501.3	+	2	1287		c.e2+1			NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)						adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCGTCCTACGTACGTAACCT	0.662																																					GBM(37;400 780 6403 19663 35669)												2	Unknown(2)	lung(1)|endometrium(1)											29	24	25					20																	61386239		2195	4294	6489	SO:0001630	splice_region_variant	0				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.916+1G>A	20.37:g.61386239G>A			Q9H4H1|Q9H4T5	Splice_Site	SNP	-	e2+1	ENST00000370501.3	37	c.916+1	CCDS13502.1	20	.	.	.	.	.	.	.	.	.	.	g	12.83	2.056539	0.36277	.	.	ENSG00000101188	ENST00000370501	.	.	.	4.01	4.01	0.46588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4738	0.84125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTSR1	60856684	1.000000	0.71417	0.936000	0.37596	0.107000	0.19398	8.163000	0.89659	1.940000	0.56252	0.306000	0.20318	.	NTSR1	-	-	ENSG00000101188		0.662	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	HGNC	protein_coding	OTTHUMT00000080061.1	-	0	14	0	G		Intron	61386239	1	tier1	-	no_errors	ENST00000370501	ensembl	human	known	74_37	splice_site	26.09	17	6	SNP	1.000	A	A	61386239	G	A	61386239	5	1	84	1	0	0	0	0	0	0	1	0	10749	1159	40	1	923	1	NTSR1	20	61386239	Splice_Site	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3786805	61386239	1639281	330	22525											
CCT8	10694	genome.wustl.edu	37	chr21	30445906	30445906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagccttgggaacgtgaagCgccatggccagcctgcagga	9	5	16	11	2	0	1	0	1	0	0	0	4	0	4	4	4	5	1	4	4	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr21:30445906C>T	ENST00000286788.4	-	1	212	c.6G>A	c.(4-6)gcG>gcA	p.A2A	CCT8_ENST00000542732.1_5'Flank|CCT8_ENST00000540844.1_5'UTR|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	2					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GAACGTGAAGCGCCATGGCCA	0.632																																																	0													82	73	76					21																	30445906		2203	4300	6503	SO:0001819	synonymous_variant	0			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"Heat Shock Proteins / Chaperonins"	1623	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 112"	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.6G>A	21.37:g.30445906C>T			A6NN54|B4DEM7|B4DQH4|Q4VBP8	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta	p.A2	ENST00000286788.4	37	c.6	CCDS33528.1	21																																																																																			CCT8	-	NULL	ENSG00000156261		0.632	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1		0	46	0	C			30445906	-1			no_errors	ENST00000286788	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	30445906	C	T	30445906	2	4	84	1	0	0	0	0	0	0	0	1	2967	755	27	1		1	CCT8	21	30445906	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		30445906	17683989	331	22526											
CLDN17	26285	genome.wustl.edu	37	chr21	31538725	31538725	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggcaggcgggagagccaAcaaggagctatagaacttgc	13	4	15	9	1	0	2	0	0	0	2	0	4	0	3	1	4	5	2	1	4	5	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr21:31538725A>C	ENST00000286808.3	-	1	246	c.211T>G	c.(211-213)Ttg>Gtg	p.L71V		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	71					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGAGAGCCAACAAGGAGCTA	0.547																																																	0													77	84	82					21																	31538725		2203	4300	6503	SO:0001583	missense	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.211T>G	21.37:g.31538725A>C	ENSP00000286808:p.Leu71Val		Q3MJB5|Q6UY37	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.L71V	ENST00000286808.3	37	c.211	CCDS13586.1	21	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157697	0.38119	.	.	ENSG00000156282	ENST00000286808	D	0.89552	-2.53	5.22	-6.09	0.02145	.	0.151830	0.44902	D	0.000408	D	0.94994	0.8380	H	0.95780	3.72	0.41232	D	0.986589	D	0.89917	1.0	D	0.97110	1.0	D	0.94368	0.7593	10	0.87932	D	0	.	16.177	0.81858	0.4019:0.0:0.5981:0.0	.	71	P56750	CLD17_HUMAN	V	71	ENSP00000286808:L71V	ENSP00000286808:L71V	L	-	1	2	CLDN17	30460596	0.001000	0.12720	0.049000	0.19019	0.094000	0.18550	-0.088000	0.11198	-1.272000	0.02427	-0.256000	0.11100	TTG	CLDN17	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000156282		0.547	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	-	0	38	0	A	NM_012131		31538725	-1	tier1	-	no_errors	ENST00000286808	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.538	C	C	31538725	A	C	31538725	3	2	84	1	0	0	0	0	1	0	0	0	3485	40	2	4	467	4	CLDN17	21	31538725	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	1092819	31538725	16591170	332	22527											
CRYAA	1409	genome.wustl.edu	37	chr21	44589332	44589332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgctgcccttcctgtcGtccaccatcagcccctacta	6	10	6	19	1	1	0	1	0	0	0	4	1	3	0	7	0	4	1	7	0	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr21:44589332G>A	ENST00000291554.2	+	1	215	c.123G>A	c.(121-123)tcG>tcA	p.S41S	CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_5'Flank|CRYAA_ENST00000398132.1_5'Flank	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	41					negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCTTCCTGTCGTCCACCATCA	0.632																																																	0													162	152	156					21																	44589332		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"Heat shock proteins / HSPB"	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.123G>A	21.37:g.44589332G>A			Q53X53	Silent	SNP	pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.S41	ENST00000291554.2	37	c.123	CCDS13695.1	21																																																																																			CRYAA	-	pfam_Alpha-crystallin_N	ENSG00000160202		0.632	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYAA	HGNC	protein_coding	OTTHUMT00000195562.1	-	0	42	0	G			44589332	1	tier1	-	no_errors	ENST00000291554	ensembl	human	known	74_37	silent	61.11	7	11	SNP	0.995	A	A	44589332	G	A	44589332	2	1	84	1	0	0	0	0	0	0	0	1	3912	1132	40	1		1	CRYAA	21	44589332	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	13050607	44589332	3540563	333	22528											
BCR	613	genome.wustl.edu	37	chr22	23523281	23523281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctccattcggcgccTggagcaggaggtgaaccagg	9	5	15	12	2	0	1	0	1	0	0	2	3	1	3	4	6	2	1	4	6	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr22:23523281T>A	ENST00000305877.8	+	1	885	c.134T>A	c.(133-135)cTg>cAg	p.L45Q	BCR_ENST00000359540.3_Missense_Mutation_p.L45Q|BCR_ENST00000398512.5_Missense_Mutation_p.L45Q	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	45	Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	ATTCGGCGCCTGGAGCAGGAG	0.642			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													20	22	21					22																	23523281		2196	4292	6488	SO:0001583	missense	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.134T>A	22.37:g.23523281T>A	ENSP00000303507:p.Leu45Gln		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.L45Q	ENST00000305877.8	37	c.134	CCDS13806.1	22	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424042	0.83667	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.66638	0.35;0.35;-0.22	3.84	3.84	0.44239	Bcr-Abl oncoprotein oligomerisation (2);	0.000000	0.53938	U	0.000054	T	0.72787	0.3504	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	T	0.75628	-0.3252	10	0.87932	D	0	.	12.1306	0.53940	0.0:0.0:0.0:1.0	.	45;45	P11274-2;P11274	.;BCR_HUMAN	Q	45	ENSP00000303507:L45Q;ENSP00000352535:L45Q;ENSP00000381524:L45Q	ENSP00000290956:L45Q	L	+	2	0	BCR	21853281	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.475000	0.73582	1.527000	0.49086	0.254000	0.18369	CTG	BCR	-	pfam_Bcr-Abl_oncoprot_oligo,superfamily_Bcr-Abl_oncoprot_oligo	ENSG00000186716		0.642	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1		0	50	0	T	NM_004327		23523281	1			no_errors	ENST00000305877	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	23523281	T	A	23523281	3	1	84	1	0	0	0	0	1	0	0	0	1389	1580	55	5	136	5	BCR	22	23523281	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09		23523281	27781285	334	22529											
SF3A1	10291	genome.wustl.edu	37	chr22	30736779	30736780	+	In_Frame_Ins	INS	-	-	CTT																															gggtgggggcactttctgccINScttcttcttcatcatctgaa																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr22:30736779_30736780insCTT	ENST00000215793.8	-	8	1247_1248	c.1093_1094insAAG	c.(1093-1095)ggg>gAAGgg	p.364_365insE	SF3A1_ENST00000439242.1_In_Frame_Ins_p.299_300insE	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	364					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CACTTTCTGCCCTTCTTCTTCA	0.569																																																	0																																										SO:0001652	inframe_insertion	0			X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"splicing factor 3a, subunit 1, 120kD"			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1091_1093dupAAG	22.37:g.30736786_30736788dupCTT	ENSP00000215793:p.Glu364_Glu364dup		E9PAW1	In_Frame_Ins	INS	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.365in_frame_insE	ENST00000215793.8	37	c.1094_1093	CCDS13875.1	22																																																																																			SF3A1	-	pfam_PRP21-like	ENSG00000099995		0.569	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	HGNC	protein_coding	OTTHUMT00000320916.2		0	40	0	-	NM_005877		30736780	-1	tier1		no_errors	ENST00000215793	ensembl	human	known	74_37	in_frame_ins	25.93	20	7	INS	1.000:1.000	CTT	CTT	30736780	-	CTT	30736779	7	5	84	1	0	1	1	0	0	0	0	0	14191	623	22	0	1323	0	SF3A1	22	30736779	In_Frame_Ins	INS	-	TCGA-L5-A8NJ-01A-11D-A36J-09	7213498	30736779	20567787	335	22530											
MGAT3	4248	genome.wustl.edu	37	chr22	39883741	39883741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctggagaggccgccccCgggacggccggaggagaagc	8	2	19	12	4	0	2	0	0	0	2	0	7	0	4	4	6	2	1	4	6	1	0			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr22:39883741C>T	ENST00000341184.6	+	2	604	c.389C>T	c.(388-390)cCg>cTg	p.P130L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	130					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AGGCCGCCCCCGGGACGGCCG	0.731																																																	0													4	6	5					22																	39883741		2027	3970	5997	SO:0001583	missense	0			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.389C>T	22.37:g.39883741C>T	ENSP00000345270:p.Pro130Leu		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.P130L	ENST00000341184.6	37	c.389	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	2.549	-0.304486	0.05495	.	.	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	5.03	4.02	0.46733	.	0.735064	0.12457	N	0.467228	T	0.26521	0.0648	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15896	-1.0421	9	0.24483	T	0.36	.	11.5413	0.50667	0.0:0.8498:0.0:0.1502	.	130	Q09327	MGAT3_HUMAN	L	130	.	ENSP00000345270:P130L	P	+	2	0	MGAT3	38213687	0.983000	0.35010	0.001000	0.08648	0.086000	0.17979	-1.024000	0.03603	1.126000	0.42016	0.467000	0.42956	CCG	MGAT3	-	NULL	ENSG00000128268		0.731	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	-	0	33	0	C	NM_002409		39883741	1	tier1	-	no_errors	ENST00000341184	ensembl	human	known	74_37	missense	34.48	19	10	SNP	0.000	T	T	39883741	C	T	39883741	3	4	84	1	0	0	0	0	1	0	0	0	9582	652	23	1	391	1	MGAT3	22	39883741	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	9146962	39883741	11420825	336	22531											
MEI1	150365	genome.wustl.edu	37	chr22	42159250	42159250	+	Frame_Shift_Del	DEL	C	C	-																															ctgcaggaccagggcgagcgCcccccactggtggtcttcaa																										TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr22:42159250delC	ENST00000401548.3	+	19	2233	c.2193delC	c.(2191-2193)cgcfs	p.R731fs	MEI1_ENST00000540833.1_Frame_Shift_Del_p.R471fs|MEI1_ENST00000540880.1_Frame_Shift_Del_p.R49fs|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Frame_Shift_Del_p.R99fs	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AGGGCGAGCGCCCCCCACTGG	0.537											OREG0026596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													93	91	91					22																	42159250		1935	4150	6085	SO:0001589	frameshift_variant	0			AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"spermatogenesis associated 38"	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.2193delC	22.37:g.42159250delC	ENSP00000384115:p.Arg731fs	906		Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.P733fs	ENST00000401548.3	37	c.2193	CCDS46718.1	22																																																																																			MEI1	-	superfamily_ARM-type_fold	ENSG00000167077		0.537	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MEI1	HGNC	protein_coding	OTTHUMT00000074937.3		0	26	0	C	NM_152513		42159250	1	tier1		no_errors	ENST00000401548	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.047	-	-	42159250	C	-	42159250	7	5	84	1	0	1	0	1	0	0	0	0	9503	726	26	0	2267	0	MEI1	22	42159250	Frame_Shift_Del	DEL	C	TCGA-L5-A8NJ-01A-11D-A36J-09	2275509	42159250	9145316	337	22532											
UPK3A	7380	genome.wustl.edu	37	chr22	45691457	45691457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggacatggggagttctGatggggaaacgactcacgac	12	6	15	8	2	2	1	1	1	1	0	2	6	2	4	0	5	1	1	0	5	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr22:45691457G>T	ENST00000216211.4	+	6	753	c.721G>T	c.(721-723)Gat>Tat	p.D241Y	UPK3A_ENST00000396082.2_Missense_Mutation_p.D120Y	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	241					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGGGAGTTCTGATGGGGAAAC	0.582																																																	0													127	130	129					22																	45691457		2203	4300	6503	SO:0001583	missense	0			AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"uroplakin 3"	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.721G>T	22.37:g.45691457G>T	ENSP00000216211:p.Asp241Tyr		B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	NULL	p.D241Y	ENST00000216211.4	37	c.721	CCDS14064.1	22	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169823	0.38315	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.86432	-0.4;-2.12	5.64	5.64	0.86602	.	0.283163	0.33732	N	0.004615	D	0.92854	0.7727	M	0.73962	2.25	0.09310	N	0.999994	D;D	0.89917	0.992;1.0	P;D	0.76575	0.875;0.988	D	0.87153	0.2210	10	0.72032	D	0.01	-9.7449	15.2084	0.73198	0.0:0.0:1.0:0.0	.	120;241	O75631-2;O75631	.;UPK3A_HUMAN	Y	241;120	ENSP00000216211:D241Y;ENSP00000379391:D120Y	ENSP00000216211:D241Y	D	+	1	0	UPK3A	44070121	0.939000	0.31865	0.030000	0.17652	0.118000	0.20060	4.233000	0.58651	2.676000	0.91093	0.557000	0.71058	GAT	UPK3A	-	NULL	ENSG00000100373		0.582	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UPK3A	HGNC	protein_coding	OTTHUMT00000322276.1	-	0	95	0	G	NM_006953		45691457	1	tier1	-	no_errors	ENST00000216211	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.117	T	T	45691457	G	T	45691457	3	4	84	1	0	0	0	0	1	0	0	0	17059	1290	45	3	743	3	UPK3A	22	45691457	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	3532207	45691457	5613109	338	22533											
CPT1B	1375	genome.wustl.edu	37	chr22	51011955	51011955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctagaggccaataccttcctCctgcagtgagggctgccagc	8	8	11	14	0	0	2	0	1	0	1	2	2	2	2	5	2	4	2	5	2	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chr22:51011955C>T	ENST00000360719.2	-	10	1297	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	CPT1B_ENST00000312108.7_Missense_Mutation_p.G387E|CPT1B_ENST00000434492.2_Missense_Mutation_p.G184E|CPT1B_ENST00000395650.2_Missense_Mutation_p.G387E|CPT1B_ENST00000405237.3_Missense_Mutation_p.G387E|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000457250.1_Missense_Mutation_p.G353E|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	387					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATACCTTCCTCCTGCAGTGAG	0.637																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													61	61	61					22																	51011955		2203	4300	6503	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1160G>A	22.37:g.51011955C>T	ENSP00000353945:p.Gly387Glu		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G387E	ENST00000360719.2	37	c.1160	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401524	0.62288	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000434492;ENST00000395650	D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	5.09	5.09	0.68999	.	0.051175	0.85682	D	0.000000	D	0.88934	0.6572	L	0.33710	1.025	0.80722	D	1	B;D;P	0.54397	0.155;0.966;0.934	B;P;P	0.62491	0.13;0.903;0.848	D	0.89078	0.3474	10	0.51188	T	0.08	-16.6101	16.0896	0.81084	0.0:1.0:0.0:0.0	.	353;184;387	B7Z4U4;A2RRE8;Q92523	.;.;CPT1B_HUMAN	E	387;387;387;353;184;387	ENSP00000385486:G387E;ENSP00000312189:G387E;ENSP00000353945:G387E;ENSP00000409342:G353E;ENSP00000410966:G184E;ENSP00000379011:G387E	ENSP00000312189:G387E	G	-	2	0	CPT1B	49358821	1.000000	0.71417	0.453000	0.27007	0.876000	0.50452	7.162000	0.77515	2.662000	0.90505	0.555000	0.69702	GGA	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.637	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0	51	0	C	NM_152246		51011955	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	T	T	51011955	C	T	51011955	3	4	84	1	0	0	0	0	1	0	0	0	3839	855	30	3	1198	3	CPT1B	22	51011955	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	5320498	51011955	292611	339	22534											
PNPLA4	8228	genome.wustl.edu	37	chrX	7870084	7870084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagctgccctttgtcctgCggggagatgtccagtcgtcc	4	12	12	13	2	1	1	0	0	1	1	5	2	4	1	4	2	3	1	4	2	1	2	rs143864337	byFrequency	TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:7870084C>T	ENST00000381042.4	-	6	746	c.576G>A	c.(574-576)ccG>ccA	p.P192P	PNPLA4_ENST00000444736.1_Silent_p.P192P|PNPLA4_ENST00000537427.1_Silent_p.P105P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	192					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				CTTTGTCCTGCGGGGAGATGT	0.507													C|||	1	0.000264901	8e-04	0	3775	,	,		14267	0		0	False		,,,				2504	0																0								C	,,	16,3819		0,15,1,1617,570	125	109	115		576,315,576	-7.9	0	X	dbSNP_134	115	0,6727		0,0,0,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	PNPLA4	NM_001142389.1,NM_001172672.1,NM_004650.2	,,	0,15,1,4045,2441	TT,TC,T,CC,C		0.0,0.4172,0.1515	,,	192/254,105/167,192/254	7870084	16,10546	2203	4299	6502	SO:0001819	synonymous_variant	0			U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"Patatin-like phospholipase domain containing"	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.576G>A	X.37:g.7870084C>T			A8K1H3|B4E362|Q8WW83	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.P192	ENST00000381042.4	37	c.576	CCDS14129.1	X																																																																																			PNPLA4	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000006757		0.507	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPLA4	HGNC	protein_coding	OTTHUMT00000055687.1		0	35	0	C	NM_004650		7870084	-1			no_errors	ENST00000381042	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.009	T	T	7870084	C	T	7870084	2	4	84	1	0	0	0	0	0	0	0	1	12206	755	27	1		1	PNPLA4	23	7870084	Silent	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09		7870084	147400476	340	22535											
BEND2	139105	genome.wustl.edu	37	chrX	18220001	18220001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtaatttcccattaaagTtggataattcgctgtctcag	11	16	7	7	1	1	0	1	0	1	0	4	1	2	1	1	1	0	3	1	1	4	7			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:18220001T>C	ENST00000380033.4	-	6	1099	c.967A>G	c.(967-969)Act>Gct	p.T323A	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	323										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCCATTAAAGTTGGATAATTC	0.378																																																	0													246	199	215					X																	18220001		2203	4300	6503	SO:0001583	missense	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.967A>G	X.37:g.18220001T>C	ENSP00000369372:p.Thr323Ala		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	pfam_BEN_domain	p.T323A	ENST00000380033.4	37	c.967	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	-	10.10	1.258431	0.23051	.	.	ENSG00000177324	ENST00000380033	T	0.25912	1.77	2.96	-1.21	0.09524	.	.	.	.	.	T	0.10078	0.0247	N	0.11560	0.145	0.09310	N	1	P	0.51791	0.948	B	0.43783	0.431	T	0.10870	-1.0611	9	0.07175	T	0.84	.	3.8705	0.09035	0.0:0.1425:0.4513:0.4062	.	323	Q8NDZ0	BEND2_HUMAN	A	323	ENSP00000369372:T323A	ENSP00000369372:T323A	T	-	1	0	BEND2	18129922	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.266000	0.00534	-0.337000	0.08426	0.336000	0.21669	ACT	BEND2	-	NULL	ENSG00000177324		0.378	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	-	0	48	0	T	NM_153346		18220001	-1	tier1	-	no_errors	ENST00000380033	ensembl	human	known	74_37	missense	55.00	27	33	SNP	0.000	C	C	18220001	T	C	18220001	3	2	84	1	0	0	0	0	1	0	0	0	1399	1725	60	4	1494	4	BEND2	23	18220001	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	10349917	18220001	137050559	341	22536											
DCAF8L2	347442	genome.wustl.edu	37	chrX	27766867	27766867	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacttcagagacatctGaggaggaggtccaagaccga	13	5	12	11	1	2	3	1	1	1	2	3	7	3	5	3	3	1	1	3	3	1	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:27766867G>T	ENST00000451261.2	+	5	2254	c.1855G>T	c.(1855-1857)Gag>Tag	p.E619*		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	619										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGAGACATCTGAGGAGGAGGT	0.502																																																	0													28	21	23					X																	27766867		692	1591	2283	SO:0001587	stop_gained	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"WD repeat domain containing"	31811	protein-coding gene	gene with protein product			"WD repeat domain 42C"	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1855G>T	X.37:g.27766867G>T	ENSP00000462745:p.Glu619*		B2RXH9|J3KT06	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E619*	ENST00000451261.2	37	c.1855	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL	ENSG00000189186		0.502	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	-	0	26	0	G	XM_293354		27766867	1	tier1	-	no_errors	ENST00000451261	ensembl	human	known	74_37	nonsense	36.00	16	9	SNP	0.772	T	T	27766867	G	T	27766867	4	4	84	1	0	0	0	0	0	1	0	0	4287	1291	45	3	1857	3	DCAF8L2	23	27766867	Nonsense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	9546866	27766867	127503693	342	22537											
MAGEB4	4115	genome.wustl.edu	37	chrX	30261075	30261075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaattcctgtggggtccaAgagctcatgcagaaaccagc	12	8	10	11	0	2	2	2	0	0	2	4	2	4	2	3	2	4	2	3	2	3	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:30261075A>G	ENST00000378982.2	+	1	1019	c.823A>G	c.(823-825)Aga>Gga	p.R275G	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	275	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTGGGGTCCAAGAGCTCATGC	0.488																																																	0													70	69	69					X																	30261075		2202	4300	6502	SO:0001583	missense	0				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"melanoma-associated antigen B4", "cancer/testis antigen family 3, member 6"	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.823A>G	X.37:g.30261075A>G	ENSP00000368266:p.Arg275Gly		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R275G	ENST00000378982.2	37	c.823	CCDS14221.1	X	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372272	0.24857	.	.	ENSG00000120289	ENST00000378982	T	0.22743	1.94	3.31	-1.72	0.08107	.	0.000000	0.64402	U	0.000001	T	0.31199	0.0789	H	0.94462	3.54	0.09310	N	1	B	0.28783	0.222	B	0.37943	0.261	T	0.47222	-0.9134	10	0.87932	D	0	.	0.3109	0.00287	0.3763:0.1931:0.13:0.3007	.	275	O15481	MAGB4_HUMAN	G	275	ENSP00000368266:R275G	ENSP00000368266:R275G	R	+	1	2	MAGEB4	30170996	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.112000	0.10791	-0.402000	0.07633	0.486000	0.48141	AGA	MAGEB4	-	pfam_MAGE,pfscan_MAGE	ENSG00000120289		0.488	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	-	0	47	0	A	NM_002367		30261075	1	tier1	-	no_errors	ENST00000378982	ensembl	human	known	74_37	missense	31.34	46	21	SNP	0.000	G	G	30261075	A	G	30261075	3	3	84	1	0	0	0	0	1	0	0	0	9216	64	3	4	825	4	MAGEB4	23	30261075	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	2494208	30261075	125009485	343	22538											
PHF16	9767	genome.wustl.edu	37	chrX	46887392	46887392	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctattgagacagaggaaGggctaggcatagagtatgat	14	9	14	4	0	0	4	0	2	0	3	0	6	0	5	0	3	1	4	0	3	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:46887392G>T	ENST00000218343.4	+	6	872	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W	PHF16_ENST00000397189.1_Missense_Mutation_p.G192W	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GACAGAGGAAGGGCTAGGCAT	0.443																																																	0													286	198	228					X																	46887392		2203	4300	6503	SO:0001583	missense	0																														ENST00000218343.4:c.574G>T	X.37:g.46887392G>T	ENSP00000218343:p.Gly192Trp			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G192W	ENST00000218343.4	37	c.574	CCDS14271.1	X	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990871	0.93106	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.87412	-2.25;-2.25	5.78	5.78	0.91487	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.95348	0.8490	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96034	0.9019	9	.	.	.	.	18.973	0.92722	0.0:0.0:1.0:0.0	.	192	Q92613	JADE3_HUMAN	W	192	ENSP00000380373:G192W;ENSP00000218343:G192W	.	G	+	1	0	PHF16	46772336	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.732000	0.98816	2.428000	0.82296	0.594000	0.82650	GGG	PHF16	-	superfamily_Znf_FYVE_PHD	ENSG00000102221		0.443	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	-	0	38	0	G			46887392	1	tier1	-	no_errors	ENST00000218343	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	46887392	G	T	46887392	3	4	84	1	0	0	0	0	1	0	0	0	11866	1000	35	3	592	3	PHF16	23	46887392	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	16626317	46887392	108383168	344	22539											
HUWE1	10075	genome.wustl.edu	37	chrX	53661227	53661227	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacattctgcaagtccaaaGccattctcctttccacccca	11	10	3	17	0	2	0	0	0	2	0	5	0	4	0	6	0	3	1	6	0	3	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:53661227G>T	ENST00000342160.3	-	7	985	c.528C>A	c.(526-528)ggC>ggA	p.G176G	HUWE1_ENST00000218328.8_Silent_p.G176G|HUWE1_ENST00000262854.6_Silent_p.G176G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	176					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAGTCCAAAGCCATTCTCCT	0.463																																																	0													244	185	205					X																	53661227		2203	4300	6503	SO:0001819	synonymous_variant	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.528C>A	X.37:g.53661227G>T			O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.G176	ENST00000342160.3	37	c.528	CCDS35301.1	X																																																																																			HUWE1	-	pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold	ENSG00000086758		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	32	0	G	XM_497119		53661227	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.996	T	T	53661227	G	T	53661227	2	4	84	1	0	0	0	0	0	0	0	1	7488	958	34	3		3	HUWE1	23	53661227	Silent	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	6773835	53661227	101609333	345	22540											
AR	367	genome.wustl.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	8	6	13	14	1	0	0	0	0	0	0	0	0	0	0	1	0	11	11	1	0	0	1	rs200185441		TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																																								2	Substitution - Missense(2)	lung(1)|endometrium(1)	GRCh37	CM033749	AR	M	rs5902610						8	11	10					X																	66765161		2116	4153	6269	SO:0001583	missense	0	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"Nuclear hormone receptors"	644	protein-coding gene	gene with protein product	"testicular feminization", "Kennedy disease"	313700	"dihydrotestosterone receptor", "spinal and bulbar muscular atrophy"	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.Q58L	ENST00000374690.3	37	c.173	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG	AR	-	pfam_Andrgn_rcpt	ENSG00000169083		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1		0	27	0	A	NM_000044		66765161	1			no_errors	ENST00000374690	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.920	T	T	66765161	A	T	66765161	3	4	84	1	0	0	0	0	1	0	0	0	836	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	13103934	66765161	88505399	346	22541											
MAGEE1	57692	genome.wustl.edu	37	chrX	75649975	75649975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtttgaattgagagaacTtgaccctgaggcacacacct	12	10	10	9	0	0	5	0	4	0	1	0	6	0	5	2	2	1	2	2	2	3	4			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:75649975T>C	ENST00000361470.2	+	1	1930	c.1652T>C	c.(1651-1653)cTt>cCt	p.L551P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	551	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						TTGAGAGAACTTGACCCTGAG	0.478																																																	0													36	33	34					X																	75649975		2203	4300	6503	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1652T>C	X.37:g.75649975T>C	ENSP00000354912:p.Leu551Pro		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L551P	ENST00000361470.2	37	c.1652	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	T	6.098	0.386409	0.11524	.	.	ENSG00000198934	ENST00000361470	T	0.06849	3.25	2.34	2.34	0.29019	.	.	.	.	.	T	0.15132	0.0365	L	0.48642	1.525	0.19775	N	0.999955	P	0.36086	0.536	P	0.51324	0.666	T	0.20371	-1.0277	9	0.87932	D	0	.	5.8226	0.18536	0.0:0.0:0.0:1.0	.	551	Q9HCI5	MAGE1_HUMAN	P	551	ENSP00000354912:L551P	ENSP00000354912:L551P	L	+	2	0	MAGEE1	75566379	0.985000	0.35326	0.002000	0.10522	0.007000	0.05969	2.127000	0.42035	1.161000	0.42604	0.481000	0.45027	CTT	MAGEE1	-	pfam_MAGE,pfscan_MAGE	ENSG00000198934		0.478	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0	17	0	T	NM_020932		75649975	1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	58.54	17	24	SNP	0.002	C	C	75649975	T	C	75649975	3	2	84	1	0	0	0	0	1	0	0	0	9223	1609	56	4	1654	4	MAGEE1	23	75649975	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	8884814	75649975	79620585	347	22542											
PCDH11X	27328	genome.wustl.edu	37	chrX	91873794	91873794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggagtgcaaggtagtgCaacatctcagttttacacca	12	10	10	9	0	2	0	2	0	1	0	3	1	2	1	1	2	4	4	1	2	4	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:91873794C>T	ENST00000373094.1	+	7	4744	c.3899C>T	c.(3898-3900)gCa>gTa	p.A1300V	PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1282V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1263V|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1292V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1263V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1290V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1300					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAGGTAGTGCAACATCTCAG	0.478													C|||	1	0.000264901	0	0	3775	,	,		14903	0.001		0	False		,,,				2504	0				NSCLC(38;925 1092 2571 38200 45895)												0													256	225	235					X																	91873794		2203	4300	6503	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3899C>T	X.37:g.91873794C>T	ENSP00000362186:p.Ala1300Val		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1300V	ENST00000373094.1	37	c.3899	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880693	0.33255	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.58210	0.38;0.39;0.43;0.35;0.37;0.43	4.58	1.78	0.24846	.	.	.	.	.	T	0.34600	0.0903	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.25293	-1.0136	9	0.66056	D	0.02	.	6.2121	0.20636	0.0:0.6722:0.15:0.1778	.	1263;1282;1292;1290;1300	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	V	1300;1290;1263;1282;1292;1300;1263	ENSP00000362186:A1300V;ENSP00000362189:A1290V;ENSP00000362180:A1263V;ENSP00000355105:A1282V;ENSP00000384758:A1292V;ENSP00000298274:A1263V	ENSP00000298274:A1263V	A	+	2	0	PCDH11X	91760450	0.269000	0.24143	0.001000	0.08648	0.143000	0.21401	1.335000	0.33839	-0.048000	0.13401	0.466000	0.42574	GCA	PCDH11X	-	NULL	ENSG00000102290		0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	37	0	C	NM_032969		91873794	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	80.49	8	33	SNP	0.000	T	T	91873794	C	T	91873794	3	4	84	1	0	0	0	0	1	0	0	0	11547	710	25	3	4047	3	PCDH11X	23	91873794	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	16223819	91873794	63396766	348	22543											
CXorf56	63932	genome.wustl.edu	37	chrX	118678377	118678377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccaaagccctggccaaacTtgactactgctccatccaca	11	8	5	17	0	0	1	0	1	0	0	3	1	3	1	5	1	4	1	5	1	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:118678377T>G	ENST00000371594.4	-	4	440	c.362A>C	c.(361-363)aAg>aCg	p.K121T	CXorf56_ENST00000536133.1_Missense_Mutation_p.K107T|CXorf56_ENST00000320339.4_Missense_Mutation_p.K72T|CXorf56_ENST00000469448.1_5'Flank	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	121										cervix(1)|endometrium(2)|lung(7)	10						CTGGCCAAACTTGACTACTGC	0.443																																																	0													122	102	109					X																	118678377		2203	4300	6503	SO:0001583	missense	0			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.362A>C	X.37:g.118678377T>G	ENSP00000360652:p.Lys121Thr		A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	NULL	p.K121T	ENST00000371594.4	37	c.362	CCDS14579.1	X	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372073	0.61624	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	N	0.25647	0.755	0.58432	D	0.999993	P;P	0.50443	0.935;0.935	B;B	0.44108	0.441;0.441	T	0.02015	-1.1229	10	0.33141	T	0.24	-19.0176	12.736	0.57225	0.0:0.0:0.0:1.0	.	107;121	F5GWL7;Q9H5V9	.;CX056_HUMAN	T	121;72;121;107;121	ENSP00000420787:K121T;ENSP00000320345:K72T;ENSP00000360652:K121T;ENSP00000441786:K107T;ENSP00000420635:K121T	ENSP00000320345:K72T	K	-	2	0	CXorf56	118562405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.286000	0.78671	1.596000	0.50062	0.441000	0.28932	AAG	CXorf56	-	NULL	ENSG00000018610		0.443	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf56	HGNC	protein_coding		-	0	29	0	T	NM_022101		118678377	-1	tier1	-	no_errors	ENST00000371594	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	G	G	118678377	T	G	118678377	3	3	84	1	0	0	0	0	1	0	0	0	4121	1609	56	4	322	4	CXorf56	23	118678377	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	26804583	118678377	36592183	349	22544											
FAM70A	55026	genome.wustl.edu	37	chrX	119438339	119438339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcgtttcctccgattGaatgctcctgaaagcacaga	10	12	9	10	2	0	3	0	2	0	1	4	5	3	3	3	0	2	4	3	0	2	3			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:119438339G>T	ENST00000309720.5	-	2	189	c.66C>A	c.(64-66)ttC>ttA	p.F22L	TMEM255A_ENST00000371369.4_Missense_Mutation_p.F22L|TMEM255A_ENST00000440464.1_Missense_Mutation_p.F22L	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	22						integral component of membrane (GO:0016021)											TCCTCCGATTGAATGCTCCTG	0.423																																																	0													144	109	121					X																	119438339		2203	4300	6503	SO:0001583	missense	0			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"family with sequence similarity 70, member A"	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.66C>A	X.37:g.119438339G>T	ENSP00000310110:p.Phe22Leu		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	NULL	p.F22L	ENST00000309720.5	37	c.66	CCDS14597.1	X	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404786	0.62288	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000440464;ENST00000519908	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.55	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.974;0.974;0.999	D;D;D	0.83275	0.969;0.969;0.996	T	0.56709	-0.7934	10	0.41790	T	0.15	-21.577	8.7248	0.34463	0.2431:0.0:0.7569:0.0	.	22;22;22	E9PAR3;B1APR4;Q5JRV8	.;.;FA70A_HUMAN	L	22	ENSP00000310110:F22L;ENSP00000360420:F22L;ENSP00000405781:F22L;ENSP00000428013:F22L	ENSP00000310110:F22L	F	-	3	2	FAM70A	119322367	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.334000	0.43920	1.109000	0.41680	0.600000	0.82982	TTC	TMEM255A	-	NULL	ENSG00000125355		0.423	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM255A	HGNC	protein_coding	OTTHUMT00000058091.1	-	0	28	0	G	NM_017938		119438339	-1	tier1	-	no_errors	ENST00000309720	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	119438339	G	T	119438339	3	4	84	1	0	0	0	0	1	0	0	0	5627	1281	45	3	1019	3	FAM70A	23	119438339	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	759962	119438339	35832221	350	22545											
THOC2	57187	genome.wustl.edu	37	chrX	122754756	122754756	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttcctcaggctatactaAcctttactgtggaggaatgt	9	13	9	10	0	1	0	1	0	0	0	2	2	2	2	3	3	3	1	3	3	5	6			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:122754756A>C	ENST00000245838.8	-	32	4307		c.e32+1		THOC2_ENST00000355725.4_Splice_Site|THOC2_ENST00000497887.1_5'Flank|THOC2_ENST00000491737.1_Splice_Site	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2						mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGCTATACTAACCTTTACTGT	0.428																																																	0													213	207	209					X																	122754756		2075	4205	6280	SO:0001630	splice_region_variant	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4275+1T>G	X.37:g.122754756A>C			A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Splice_Site	SNP	-	e32+2	ENST00000245838.8	37	c.4275+2	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	A	14.91	2.674949	0.47781	.	.	ENSG00000125676	ENST00000448128;ENST00000245838;ENST00000441692;ENST00000355725;ENST00000416618;ENST00000491737	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4115	0.67117	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THOC2	122582437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.108000	0.94275	1.782000	0.52362	0.486000	0.48141	.	THOC2	-	-	ENSG00000125676		0.428	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	-	0	47	0	A		Intron	122754756	-1	tier1	-	no_errors	ENST00000245838	ensembl	human	known	74_37	splice_site	47.06	36	32	SNP	1.000	C	C	122754756	A	C	122754756	5	2	84	1	0	0	0	0	0	0	1	0	15912	57	2	4	532	4	THOC2	23	122754756	Splice_Site	SNP	A	TCGA-L5-A8NJ-01A-11D-A36J-09	3316417	122754756	32515804	351	22546											
STAG2	10735	genome.wustl.edu	37	chrX	123215374	123215374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagccattgccatgctaCacaagtaatctccagatatt	14	10	7	10	0	1	2	0	0	1	2	2	3	1	2	3	0	4	2	3	0	5	5			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:123215374C>T	ENST00000371160.1	+	28	3210	c.2920C>T	c.(2920-2922)Cac>Tac	p.H974Y	STAG2_ENST00000354548.5_Missense_Mutation_p.H905Y|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.H974Y|STAG2_ENST00000371157.3_Missense_Mutation_p.H974Y|STAG2_ENST00000371144.3_Missense_Mutation_p.H974Y|STAG2_ENST00000371145.3_Missense_Mutation_p.H974Y	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	974					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCCATGCTACACAAGTAATC	0.313																																																	0													94	90	91					X																	123215374		2203	4300	6503	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2920C>T	X.37:g.123215374C>T	ENSP00000360202:p.His974Tyr		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.H974Y	ENST00000371160.1	37	c.2920	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701667	0.88924	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.47869	1.14;0.86;0.83;0.83;1.14;0.83	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73289	0.3568	M	0.88570	2.965	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.62014	0.897;0.792	T	0.78623	-0.2132	10	0.72032	D	0.01	-7.4033	19.0619	0.93096	0.0:1.0:0.0:0.0	.	974;974	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Y	974;905;974;974;974;974	ENSP00000218089:H974Y;ENSP00000346555:H905Y;ENSP00000360202:H974Y;ENSP00000360199:H974Y;ENSP00000360187:H974Y;ENSP00000360186:H974Y	ENSP00000218089:H974Y	H	+	1	0	STAG2	123043055	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.452000	0.82932	0.538000	0.68166	CAC	STAG2	-	NULL	ENSG00000101972		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	-	0	40	0	C	NM_006603		123215374	1	tier1	-	no_errors	ENST00000218089	ensembl	human	known	74_37	missense	100.00	0	51	SNP	1.000	T	T	123215374	C	T	123215374	3	4	84	1	0	0	0	0	1	0	0	0	15290	478	17	3	3022	3	STAG2	23	123215374	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	460618	123215374	32055186	352	22547											
ODZ1	10178	genome.wustl.edu	37	chrX	123654589	123654589	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggctgctcaggtaacTcagcctcacaaagctggagg	9	7	14	11	1	3	0	3	0	0	0	3	1	3	1	1	5	5	4	1	5	2	1			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:123654589T>G	ENST00000371130.3	-	18	3142	c.3079A>C	c.(3079-3081)Agt>Cgt	p.S1027R	TENM1_ENST00000422452.2_Missense_Mutation_p.S1027R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1027					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTCAGGTAACTCAGCCTCACA	0.453																																																	0													58	52	54					X																	123654589		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3079A>C	X.37:g.123654589T>G	ENSP00000360171:p.Ser1027Arg		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S1027R	ENST00000371130.3	37	c.3079	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	13.21	2.168066	0.38315	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85773	-2.03;-1.99	5.58	5.58	0.84498	.	0.092637	0.64402	D	0.000001	T	0.79417	0.4442	L	0.40543	1.245	0.45046	D	0.998064	P;P;P	0.50272	0.933;0.868;0.565	B;B;B	0.42386	0.386;0.23;0.205	T	0.76785	-0.2831	10	0.13108	T	0.6	.	14.7193	0.69294	0.0:0.0:0.0:1.0	.	1026;1027;1027	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	1027	ENSP00000360171:S1027R;ENSP00000403954:S1027R	ENSP00000360171:S1027R	S	-	1	0	ODZ1	123482270	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.191000	0.50981	1.857000	0.53885	0.486000	0.48141	AGT	TENM1	-	NULL	ENSG00000009694		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	29	0	T	NM_014253		123654589	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	38.33	36	23	SNP	0.985	G	G	123654589	T	G	123654589	3	3	84	1	0	0	0	0	1	0	0	0	10873	1551	54	4	5179	4	ODZ1	23	123654589	Missense_Mutation	SNP	T	TCGA-L5-A8NJ-01A-11D-A36J-09	439215	123654589	31615971	353	22548											
SPANXN1	494118	genome.wustl.edu	37	chrX	144337273	144337273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatattcaacagtattagCgttttgctacaggaaagcta	15	12	8	6	1	1	1	1	0	0	1	1	2	1	2	0	1	5	4	0	1	8	8			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:144337273C>A	ENST00000370493.3	+	2	917	c.158C>A	c.(157-159)gCg>gAg	p.A53E		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	53										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGTATTAGCGTTTTGCTAC	0.428																																																	0													180	155	163					X																	144337273		2203	4297	6500	SO:0001583	missense	0				CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"cancer/testis antigen family 11, member 6"	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.158C>A	X.37:g.144337273C>A	ENSP00000359524:p.Ala53Glu			Missense_Mutation	SNP	pfam_SPANX_prot	p.A53E	ENST00000370493.3	37	c.158	CCDS35421.1	X	.	.	.	.	.	.	.	.	.	.	-	7.037	0.561702	0.13498	.	.	ENSG00000203923	ENST00000370493	T	0.06608	3.28	1.51	0.175	0.15045	.	.	.	.	.	T	0.04003	0.0112	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43556	-0.9384	8	0.45353	T	0.12	.	1.5277	0.02529	0.307:0.217:0.0:0.4759	.	53	Q5VSR9	SPXN1_HUMAN	E	53	ENSP00000359524:A53E	ENSP00000359524:A53E	A	+	2	0	SPANXN1	144144965	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.217000	0.02979	-0.457000	0.07033	-1.350000	0.01237	GCG	SPANXN1	-	pfam_SPANX_prot	ENSG00000203923		0.428	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN1	HGNC	protein_coding	OTTHUMT00000058631.2	-	0	67	0	C	NM_001009614		144337273	1	tier1	-	no_errors	ENST00000370493	ensembl	human	known	74_37	missense	35.53	49	27	SNP	0.000	A	A	144337273	C	A	144337273	3	1	84	1	0	0	0	0	1	0	0	0	15037	768	27	2	164	2	SPANXN1	23	144337273	Missense_Mutation	SNP	C	TCGA-L5-A8NJ-01A-11D-A36J-09	20682684	144337273	10933287	354	22549											
CD99L2	83692	genome.wustl.edu	37	chrX	149963744	149963744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgatcatccagggcatcaGccaagtcaaaatcatttcct	12	11	6	12	1	4	0	4	0	0	0	7	1	6	0	3	1	1	1	3	1	3	2			TCGA-L5-A8NJ-01A-11D-A36J-09	TCGA-L5-A8NJ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d4c92b60-4b59-483f-8deb-9dcf8b98b980	c2aa2b87-814c-46f7-9f91-d29955e0a5a2	g.chrX:149963744G>A	ENST00000370377.3	-	6	482	c.365C>T	c.(364-366)gCt>gTt	p.A122V	CD99L2_ENST00000355149.3_Missense_Mutation_p.A50V|CD99L2_ENST00000466436.1_Missense_Mutation_p.A73V|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	122					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGCATCAGCCAAGTCAAA	0.463																																																	0													138	138	138					X																	149963744		2203	4300	6503	SO:0001583	missense	0			BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"MIC2 like 1", "CD99 antigen-like 2"	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.365C>T	X.37:g.149963744G>A	ENSP00000359403:p.Ala122Val		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	pfam_CD99L2	p.A122V	ENST00000370377.3	37	c.365	CCDS35427.1	X	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854379	0.32791	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	3.67	0.546	0.17196	.	0.809938	0.11205	N	0.588333	T	0.31482	0.0798	M	0.68952	2.095	0.47778	D	0.999511	P;P;B	0.48162	0.906;0.557;0.245	P;B;B	0.46543	0.52;0.215;0.138	T	0.17961	-1.0352	9	.	.	.	-7.2847	9.7007	0.40184	0.0:0.0:0.4573:0.5427	.	50;73;122	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	V	122;126;50;73;85	ENSP00000359403:A122V;ENSP00000347275:A50V;ENSP00000417697:A73V;ENSP00000391821:A85V	.	A	-	2	0	CD99L2	149714402	0.932000	0.31603	0.417000	0.26559	0.936000	0.57629	0.661000	0.25023	-0.008000	0.14320	0.513000	0.50165	GCT	CD99L2	-	pfam_CD99L2	ENSG00000102181		0.463	CD99L2-001	KNOWN	basic|CCDS	protein_coding	CD99L2	HGNC	protein_coding	OTTHUMT00000061199.1	-	0	42	0	G	NM_031462		149963744	-1	tier1	-	no_errors	ENST00000370377	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.831	A	A	149963744	G	A	149963744	3	1	84	1	0	0	0	0	1	0	0	0	3058	971	34	3	447	3	CD99L2	23	149963744	Missense_Mutation	SNP	G	TCGA-L5-A8NJ-01A-11D-A36J-09	5626471	149963744	5306816	355	22550											
TNFRSF4	7293	genome.wustl.edu	37	chr1	1147001	1147001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggtccggaaactgccTccccctggggaggaaaaaag	11	5	15	10	1	0	0	0	0	0	0	2	3	2	3	4	6	2	0	4	6	4	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:1147001T>C	ENST00000379236.3	-	7	772	c.768A>G	c.(766-768)ggA>ggG	p.G256G	TNFRSF4_ENST00000453580.1_5'Flank	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	256					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGAAACTGCCTCCCCCTGGGG	0.677																																																	0													28	34	32					1																	1147001		2201	4300	6501	SO:0001819	synonymous_variant	0			X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"Tumor necrosis factor receptor superfamily", "CD molecules"	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.768A>G	1.37:g.1147001T>C			Q13663|Q2M312|Q5T7M0	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_4	p.G256	ENST00000379236.3	37	c.768	CCDS11.1	1																																																																																			TNFRSF4	-	prints_TNFR_4	ENSG00000186827		0.677	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF4	HGNC	protein_coding	OTTHUMT00000004086.1		0	35	0	T			1147001	-1			no_errors	ENST00000379236	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.985	C	C	1147001	T	C	1147001	2	2	85	1	0	0	0	0	0	0	0	1	16344	1538	54	4		4	TNFRSF4	1	1147001	Silent	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09		1147001	248103620	1	22551											
TNFRSF8	943	genome.wustl.edu	37	chr1	12164492	12164492	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccgtgtctgcgaatgtCgacccggcatgttctgttcc	4	12	10	15	4	2	0	0	0	2	0	5	2	4	0	4	1	1	3	4	1	1	2	rs148756853		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:12164492C>T	ENST00000263932.2	+	4	547	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	109					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	CTGCGAATGTCGACCCGGCAT	0.577																																																	0								C	stop/ARG	1,4405		0,1,2202	174	130	145		325	2.9	0.1	1	dbSNP_134	145	0,8600		0,0,4300	no	stop-gained	TNFRSF8	NM_001243.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		109/596	12164492	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.325C>T	1.37:g.12164492C>T	ENSP00000263932:p.Arg109*		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.R109*	ENST00000263932.2	37	c.325	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.045823	0.75846	2.27E-4	0.0	ENSG00000120949	ENST00000263932	.	.	.	4.92	2.87	0.33458	.	0.281964	0.25735	N	0.028656	.	.	.	.	.	.	0.20873	N	0.999832	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.0445	9.6551	0.39921	0.379:0.6209:0.0:0.0	.	.	.	.	X	109	.	ENSP00000263932:R109X	R	+	1	2	TNFRSF8	12087079	0.467000	0.25831	0.110000	0.21437	0.037000	0.13140	1.550000	0.36223	1.379000	0.46325	-0.175000	0.13238	CGA	TNFRSF8	-	smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000120949		0.577	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	-	0	61	0	C			12164492	1	tier1	rs148756853	no_errors	ENST00000263932	ensembl	human	known	74_37	nonsense	21.82	43	12	SNP	0.146	T	T	12164492	C	T	12164492	4	4	85	1	0	0	0	0	0	1	0	0	16346	876	31	1	339	1	TNFRSF8	1	12164492	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	11017491	12164492	237086129	2	22552											
ZBTB17	7709	genome.wustl.edu	37	chr1	16269652	16269652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggatgttgtcgtggtGgcgaatatgattggccaact	7	12	16	6	3	0	1	0	1	0	0	1	3	0	2	1	5	1	1	1	5	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:16269652G>A	ENST00000375743.4	-	13	1967	c.1735C>T	c.(1735-1737)Cac>Tac	p.H579Y	ZBTB17_ENST00000537142.1_Missense_Mutation_p.H497Y|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Missense_Mutation_p.H579Y	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	579					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTGTCGTGGTGGCGAATATGA	0.592																																																	0													292	257	269					1																	16269652		2203	4300	6503	SO:0001583	missense	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1735C>T	1.37:g.16269652G>A	ENSP00000364895:p.His579Tyr		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H579Y	ENST00000375743.4	37	c.1735	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531451	0.85706	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729	T;T;T	0.07444	3.19;3.19;3.19	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.04705	-0.18	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.75484	0.986;0.93;0.962	T	0.43442	-0.9391	10	0.87932	D	0	.	19.112	0.93319	0.0:0.0:1.0:0.0	.	579;497;579	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	Y	579;579;498;497;135	ENSP00000364895:H579Y;ENSP00000364885:H579Y;ENSP00000438529:H497Y	ENSP00000364881:H135Y	H	-	1	0	ZBTB17	16142239	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.378000	0.79679	2.580000	0.87095	0.563000	0.77884	CAC	ZBTB17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000116809		0.592	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	-	0	56	0	G	NM_003443		16269652	-1	tier1	-	no_errors	ENST00000375733	ensembl	human	known	74_37	missense	15.28	61	11	SNP	1.000	A	A	16269652	G	A	16269652	3	1	85	1	0	0	0	0	1	0	0	0	17575	1348	47	3	692	3	ZBTB17	1	16269652	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4105160	16269652	232980969	3	22553											
ATP13A2	23400	genome.wustl.edu	37	chr1	17314657	17314657	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaggatcaggacggagatGaactgggtcaggctgtacag	12	7	16	6	1	2	3	2	1	0	2	2	6	2	5	0	5	2	2	0	5	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:17314657G>C	ENST00000326735.8	-	25	2868	c.2835C>G	c.(2833-2835)ttC>ttG	p.F945L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.F901L|ATP13A2_ENST00000452699.1_Missense_Mutation_p.F940L|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	945					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGACGGAGATGAACTGGGTCA	0.602																																																	0													142	125	131					1																	17314657		2203	4300	6503	SO:0001583	missense	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2835C>G	1.37:g.17314657G>C	ENSP00000327214:p.Phe945Leu		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.F945L	ENST00000326735.8	37	c.2835	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	g	18.00	3.525537	0.64860	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	D;D;D;D	0.96232	-2.32;-2.32;-2.32;-3.95	5.51	2.56	0.30785	.	0.000000	0.85682	D	0.000000	D	0.96331	0.8803	M	0.74546	2.27	0.41910	D	0.990465	P;D;D	0.56035	0.893;0.963;0.974	B;P;P	0.57283	0.286;0.817;0.677	D	0.93732	0.7042	10	0.45353	T	0.12	-32.6874	5.3814	0.16194	0.17:0.0:0.6708:0.1592	.	901;940;945	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	L	945;901;940;141	ENSP00000327214:F945L;ENSP00000341115:F901L;ENSP00000413307:F940L;ENSP00000423065:F141L	ENSP00000327214:F945L	F	-	3	2	ATP13A2	17187244	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.251000	0.32862	0.273000	0.22049	-0.215000	0.12644	TTC	ATP13A2	-	tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000159363		0.602	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1		0	27	0	G	NM_022089		17314657	-1			no_errors	ENST00000326735	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	C	C	17314657	G	C	17314657	3	2	85	1	0	0	0	0	1	0	0	0	1125	1281	45	5	963	5	ATP13A2	1	17314657	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1045005	17314657	231935964	4	22554											
TMCO4	255104	genome.wustl.edu	37	chr1	20097816	20097816	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacctgagtgatcaccgtCgggtcgtccttcaagatggg	7	11	13	10	3	2	3	2	2	0	1	5	3	3	3	3	2	1	1	3	2	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:20097816C>T	ENST00000294543.6	-	5	580	c.339G>A	c.(337-339)ccG>ccA	p.P113P	TMCO4_ENST00000375127.1_Silent_p.P113P|TMCO4_ENST00000375122.2_Silent_p.P113P	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	113						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGATCACCGTCGGGTCGTCCT	0.478																																																	0													125	129	128					1																	20097816		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.339G>A	1.37:g.20097816C>T			Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.P113	ENST00000294543.6	37	c.339	CCDS198.1	1																																																																																			TMCO4	-	NULL	ENSG00000162542		0.478	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	-	0	36	0	C	NM_181719		20097816	-1	tier1	-	no_errors	ENST00000294543	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.000	T	T	20097816	C	T	20097816	2	4	85	1	0	0	0	0	0	0	0	1	16045	871	31	1		1	TMCO4	1	20097816	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2783159	20097816	229152805	5	22555											
C1QC	714	genome.wustl.edu	37	chr1	22973906	22973906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattccagtcagtgttcaCggtcactcggcagacccacc	10	8	9	14	2	3	1	3	0	0	1	5	2	4	1	3	2	0	2	3	2	1	2	rs369345026		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:22973906C>T	ENST00000374639.3	+	3	486	c.368C>T	c.(367-369)aCg>aTg	p.T123M	C1QC_ENST00000374637.1_Missense_Mutation_p.T123M|C1QC_ENST00000374640.4_Missense_Mutation_p.T123M	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	123	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T123M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGTGTTCACGGTCACTCGG	0.622																																					Ovarian(26;671 750 8290 29071 43278)												1	Substitution - Missense(1)	endometrium(1)						C	MET/THR,MET/THR	0,4406		0,0,2203	84	84	84		368,368	4	0.9	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C1QC	NM_001114101.1,NM_172369.3	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	123/246,123/246	22973906	1,13005	2203	4300	6503	SO:0001583	missense	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.368C>T	1.37:g.22973906C>T	ENSP00000363770:p.Thr123Met		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.T123M	ENST00000374639.3	37	c.368	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333256	0.60853	0.0	1.16E-4	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.76316	-1.01;-1.01;-1.01	4.94	4.0	0.46444	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.321832	0.32416	N	0.006121	D	0.87212	0.6121	M	0.80183	2.485	0.38692	D	0.952783	D	0.76494	0.999	D	0.70935	0.971	D	0.89130	0.3509	10	0.56958	D	0.05	.	13.668	0.62407	0.0:0.8434:0.1566:0.0	.	123	P02747	C1QC_HUMAN	M	123	ENSP00000363771:T123M;ENSP00000363770:T123M;ENSP00000363768:T123M	ENSP00000363768:T123M	T	+	2	0	C1QC	22846493	0.605000	0.26941	0.920000	0.36463	0.710000	0.40934	1.240000	0.32731	1.017000	0.39495	0.561000	0.74099	ACG	C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000159189		0.622	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1		0	33	0	C	NM_172369		22973906	1			no_errors	ENST00000374637	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.982	T	T	22973906	C	T	22973906	3	4	85	1	0	0	0	0	1	0	0	0	1964	536	19	1	374	1	C1QC	1	22973906	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2876090	22973906	226276715	6	22556											
SLC30A2	7780	genome.wustl.edu	37	chr1	26365766	26365766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggcggctgctggctgtcTtcagcacagcctgggcgtct	4	9	16	12	2	3	0	1	0	2	0	3	1	3	1	1	5	3	4	1	5	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:26365766T>A	ENST00000374278.3	-	7	1073	c.857A>T	c.(856-858)aAg>aTg	p.K286M	SLC30A2_ENST00000374276.3_Missense_Mutation_p.K335M	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	286					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGGCTGTCTTCAGCACAGC	0.587																																																	0													62	57	59					1																	26365766		2203	4300	6503	SO:0001583	missense	0			AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"Solute carriers"	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.857A>T	1.37:g.26365766T>A	ENSP00000363396:p.Lys286Met		Q71RC8	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.K335M	ENST00000374278.3	37	c.1004	CCDS272.1	1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551424	0.45487	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.66280	-0.2;-0.2	5.52	4.38	0.52667	.	0.069288	0.64402	N	0.000018	T	0.67505	0.2900	M	0.88570	2.965	0.45056	D	0.998077	B;B	0.27679	0.034;0.185	B;B	0.29267	0.1;0.094	T	0.67647	-0.5617	10	0.59425	D	0.04	-10.3146	11.0015	0.47609	0.14:0.0:0.0:0.8599	.	286;335	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	M	286;335	ENSP00000363396:K286M;ENSP00000363394:K335M	ENSP00000363394:K335M	K	-	2	0	SLC30A2	26238353	1.000000	0.71417	0.965000	0.40720	0.644000	0.38419	2.805000	0.47939	0.912000	0.36772	0.379000	0.24179	AAG	SLC30A2	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000158014		0.587	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	SLC30A2	HGNC	protein_coding	OTTHUMT00000019742.1	-	0	26	0	T	NM_032513		26365766	-1	tier1	-	no_errors	ENST00000374276	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	A	A	26365766	T	A	26365766	3	1	85	1	0	0	0	0	1	0	0	0	14600	1609	56	5	118	5	SLC30A2	1	26365766	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	3391860	26365766	222884855	7	22557											
KIAA0319L	79932	genome.wustl.edu	37	chr1	35919200	35919200	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agataattttctgatcatctGagctcttgctgccatccagg	9	14	8	10	0	4	3	1	2	3	1	5	3	5	3	2	1	3	2	2	1	1	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:35919200G>C	ENST00000325722.3	-	12	2105	c.1871C>G	c.(1870-1872)tCa>tGa	p.S624*	KIAA0319L_ENST00000373266.4_Nonsense_Mutation_p.S61*|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	624	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGATCATCTGAGCTCTTGCT	0.448																																																	0													118	115	116					1																	35919200		2203	4300	6503	SO:0001587	stop_gained	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1871C>G	1.37:g.35919200G>C	ENSP00000318406:p.Ser624*		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Nonsense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.S624*	ENST00000325722.3	37	c.1871	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939141	0.73557	.	.	ENSG00000142687	ENST00000325722;ENST00000373266;ENST00000426982;ENST00000440579	.	.	.	5.56	4.63	0.57726	.	0.654515	0.15032	N	0.284382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-4.4586	14.447	0.67359	0.0746:0.0:0.9254:0.0	.	.	.	.	X	624;61;624;624	.	ENSP00000318406:S624X	S	-	2	0	KIAA0319L	35691787	0.916000	0.31088	0.995000	0.50966	0.996000	0.88848	2.855000	0.48333	2.777000	0.95525	0.655000	0.94253	TCA	KIAA0319L	-	superfamily_PKD_dom,smart_PKD/Chitinase_dom	ENSG00000142687		0.448	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	-	0	49	0	G	NM_024874		35919200	-1	tier1	-	no_errors	ENST00000325722	ensembl	human	known	74_37	nonsense	21.31	48	13	SNP	0.960	C	C	35919200	G	C	35919200	4	2	85	1	0	0	0	0	0	1	0	0	8196	1294	45	5	1318	5	KIAA0319L	1	35919200	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	9553434	35919200	213331421	8	22558											
EIF2C4	192670	genome.wustl.edu	37	chr1	36316572	36316572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaggtgcactcgctcaGtctctattccagcccctgca	7	11	9	14	1	2	1	1	1	1	0	5	1	3	1	3	1	3	3	3	1	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:36316572G>T	ENST00000373210.3	+	17	2640	c.2395G>T	c.(2395-2397)Gtc>Ttc	p.V799F	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	799	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										CACTCGCTCAGTCTCTATTCC	0.483																																																	0													110	94	99					1																	36316572		2203	4300	6503	SO:0001583	missense	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"Argonaute/PIWI family"	18424	protein-coding gene	gene with protein product	"argonaute 4"	607356	"eukaryotic translation initiation factor 2C, 4"	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2395G>T	1.37:g.36316572G>T	ENSP00000362306:p.Val799Phe		A7MD27	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.V799F	ENST00000373210.3	37	c.2395	CCDS397.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714292	0.89112	.	.	ENSG00000134698	ENST00000373210	T	0.34859	1.34	5.22	5.22	0.72569	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88074	0.2802	10	0.87932	D	0	-12.0192	18.7904	0.91971	0.0:0.0:1.0:0.0	.	799	Q9HCK5	AGO4_HUMAN	F	799	ENSP00000362306:V799F	ENSP00000362306:V799F	V	+	1	0	EIF2C4	36089159	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.864000	0.99589	2.417000	0.82017	0.591000	0.81541	GTC	AGO4	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000134698		0.483	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3	-	0	47	0	G	NM_017629		36316572	1	tier1	-	no_errors	ENST00000373210	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	36316572	G	T	36316572	3	4	85	1	0	0	0	0	1	0	0	0	5022	1029	36	3	2461	3	EIF2C4	1	36316572	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	397372	36316572	212934049	9	22559											
MAST2	23139	genome.wustl.edu	37	chr1	46499772	46499772	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagctccctgttccgcaaGatcaccaagcaagcatccct	11	7	8	15	1	1	1	1	0	0	1	4	2	4	2	4	1	3	5	4	1	3	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:46499772G>C	ENST00000361297.2	+	28	3985	c.3702G>C	c.(3700-3702)aaG>aaC	p.K1234N	MAST2_ENST00000372009.2_Missense_Mutation_p.K1141N	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGTTCCGCAAGATCACCAAGC	0.597																																																	0													112	121	118					1																	46499772		2098	4229	6327	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3702G>C	1.37:g.46499772G>C	ENSP00000354671:p.Lys1234Asn			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.K1234N	ENST00000361297.2	37	c.3702	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	g	15.26	2.781899	0.49891	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.29917	1.55;1.55	4.43	3.5	0.40072	.	0.102343	0.64402	D	0.000004	T	0.55386	0.1917	M	0.85710	2.77	0.38830	D	0.955825	D;D	0.89917	0.999;1.0	D;D	0.80764	0.994;0.987	T	0.62134	-0.6918	10	0.87932	D	0	-8.4511	9.1414	0.36906	0.1796:0.0:0.8204:0.0	.	1141;1234	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	N	1234;1141	ENSP00000354671:K1234N;ENSP00000361079:K1141N	ENSP00000354671:K1234N	K	+	3	2	MAST2	46272359	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.163000	0.50763	1.051000	0.40369	0.552000	0.68991	AAG	MAST2	-	NULL	ENSG00000086015		0.597	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	44	0	G	NM_015112		46499772	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	C	C	46499772	G	C	46499772	3	2	85	1	0	0	0	0	1	0	0	0	9363	933	33	5	3812	5	MAST2	1	46499772	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	10183200	46499772	202750849	10	22560											
KIAA0494	9813	genome.wustl.edu	37	chr1	47154135	47154135	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtctcgttcattccctCgagtttaagatcattctgtc	7	16	7	11	2	4	1	2	0	2	1	8	3	5	1	1	0	0	2	1	0	1	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:47154135C>A	ENST00000371933.3	-	7	1853	c.877G>T	c.(877-879)Gag>Tag	p.E293*	EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14_ENST00000544071.1_Intron	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	293							calcium ion binding (GO:0005509)										TTCATTCCCTCGAGTTTAAGA	0.428																																																	0													235	186	202					1																	47154135		2203	4300	6503	SO:0001587	stop_gained	0			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"EF-hand domain containing"	29051	protein-coding gene	gene with protein product			"KIAA0494"	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.877G>T	1.37:g.47154135C>A	ENSP00000361001:p.Glu293*		D3DQ23|Q5SXB8	Nonsense_Mutation	SNP	pfscan_EF_hand_dom	p.E293*	ENST00000371933.3	37	c.877	CCDS30706.1	1	.	.	.	.	.	.	.	.	.	.	C	44	10.981510	0.99498	.	.	ENSG00000159658	ENST00000371933	.	.	.	5.3	-4.26	0.03755	.	0.686968	0.15278	N	0.270833	.	.	.	.	.	.	0.25935	N	0.982942	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-0.0193	4.2263	0.10582	0.1007:0.1762:0.1448:0.5784	.	.	.	.	X	293	.	ENSP00000361001:E293X	E	-	1	0	KIAA0494	46926722	0.000000	0.05858	0.933000	0.37362	0.945000	0.59286	-0.923000	0.04000	-0.590000	0.05866	0.561000	0.74099	GAG	EFCAB14	-	NULL	ENSG00000159658		0.428	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB14	HGNC	protein_coding	OTTHUMT00000021931.1		0	54	0	C	NM_014774		47154135	-1			no_errors	ENST00000371933	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	0.400	A	A	47154135	C	A	47154135	4	1	85	1	0	0	0	0	0	1	0	0	8206	893	31	2	630	2	KIAA0494	1	47154135	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	654363	47154135	202096486	11	22561											
MTMR11	10903	genome.wustl.edu	37	chr1	149902816	149902816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagctggaaactgctggagGagctgccagacacaatcaag	13	6	12	10	0	2	1	2	0	0	1	2	4	2	4	1	3	5	3	1	3	3	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:149902816G>A	ENST00000439741.2	-	14	1582	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.S242F|MTMR11_ENST00000369140.3_Silent_p.L372L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	444	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACTGCTGGAGGAGCTGCCAGA	0.463																																																	0													34	36	35					1																	149902816		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	24307	protein-coding gene	gene with protein product	"cisplatin resistance associated"					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1332C>T	1.37:g.149902816G>A			B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	NULL	p.S242F	ENST00000439741.2	37	c.725	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694393	0.30052	.	.	ENSG00000014914	ENST00000361405	T	0.50001	0.76	5.16	3.18	0.36537	.	.	.	.	.	T	0.44052	0.1275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47898	-0.9081	6	0.62326	D	0.03	.	9.5816	0.39490	0.0873:0.1811:0.7315:0.0	.	.	.	.	F	242	ENSP00000354941:S242F	ENSP00000354941:S242F	S	-	2	0	MTMR11	148169440	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.570000	0.23653	1.372000	0.46190	0.655000	0.94253	TCC	MTMR11	-	NULL	ENSG00000014914		0.463	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		-	0	32	0	G	NM_181873		149902816	-1	tier1	-	no_errors	ENST00000361405	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	A	A	149902816	G	A	149902816	2	1	85	1	0	0	0	0	0	0	0	1	9978	1161	41	3		3	MTMR11	1	149902816	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	102748681	149902816	99347805	12	22562											
OTUD7B	56957	genome.wustl.edu	37	chr1	149922096	149922096	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaactcttcaaggctctCatatacaggctcctcagaac	12	10	7	12	0	4	2	3	1	2	1	6	2	5	2	1	2	3	2	1	2	5	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:149922096C>A	ENST00000369135.4	-	8	1168	c.874G>T	c.(874-876)Gag>Tag	p.E292*		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	292	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E292*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCAAGGCTCTCATATACAGGC	0.527																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											66	66	66					1																	149922096		1969	4164	6133	SO:0001587	stop_gained	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.874G>T	1.37:g.149922096C>A	ENSP00000358131:p.Glu292*		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Nonsense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E292*	ENST00000369135.4	37	c.874	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.842964	0.97016	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.8015	17.52	0.87784	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	.	E	-	1	0	OTUD7B	148188720	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.254000	0.78329	2.612000	0.88384	0.655000	0.94253	GAG	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.527	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3		0	34	0	C	NM_020205		149922096	-1			no_errors	ENST00000369135	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	A	A	149922096	C	A	149922096	4	1	85	1	0	0	0	0	0	1	0	0	11358	835	29	3	1677	3	OTUD7B	1	149922096	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	19280	149922096	99328525	13	22563											
RPTN	126638	genome.wustl.edu	37	chr1	152128077	152128077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtccgtctggctgacCataatgataactctggtctt	7	14	9	11	1	3	2	0	2	3	0	4	2	4	2	3	2	1	1	3	2	2	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:152128077C>T	ENST00000316073.3	-	3	1562	c.1498G>A	c.(1498-1500)Ggt>Agt	p.G500S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	500	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCTGGCTGACCATAATGATAA	0.502																																																	0													829	716	750					1																	152128077		1568	3582	5150	SO:0001583	missense	0			AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"EF-hand domain containing"	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1498G>A	1.37:g.152128077C>T	ENSP00000317895:p.Gly500Ser		B7ZBZ3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G500S	ENST00000316073.3	37	c.1498	CCDS41397.1	1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.456772	0.43634	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.17213	2.29	4.59	1.67	0.24075	.	0.820317	0.09951	N	0.734628	T	0.06096	0.0158	M	0.71296	2.17	0.09310	N	1	P	0.39748	0.686	B	0.32022	0.139	T	0.31888	-0.9927	10	0.34782	T	0.22	-2.4395	6.751	0.23487	0.0:0.6905:0.0:0.3095	.	500	Q6XPR3	RPTN_HUMAN	S	500;155	ENSP00000317895:G500S	ENSP00000317895:G500S	G	-	1	0	RPTN	150394701	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.158000	0.10070	0.059000	0.16252	0.176000	0.17051	GGT	RPTN	-	NULL	ENSG00000215853		0.502	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	HGNC	protein_coding	OTTHUMT00000333867.1	-	0	213	0	C	XM_371312		152128077	-1	tier1	-	no_errors	ENST00000316073	ensembl	human	known	74_37	missense	21.01	187	50	SNP	0.010	T	T	152128077	C	T	152128077	3	4	85	1	0	0	0	0	1	0	0	0	13709	594	21	3	860	3	RPTN	1	152128077	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2205981	152128077	97122544	14	22564											
KPRP	448834	genome.wustl.edu	37	chr1	152732307	152732307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtctaagaccaagcaggtGaagggccaggctcaatgtca	13	6	12	10	0	3	2	2	1	1	1	3	2	3	2	2	3	1	2	2	3	4	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:152732307G>A	ENST00000606109.1	+	1	271	c.243G>A	c.(241-243)gtG>gtA	p.V81V	KPRP_ENST00000368773.1_Silent_p.V81V			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	81	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAGCAGGTGAAGGGCCAGG	0.552																																																	0													193	166	175					1																	152732307		2203	4300	6503	SO:0001819	synonymous_variant	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.243G>A	1.37:g.152732307G>A				Silent	SNP	NULL	p.V81	ENST00000606109.1	37	c.243	CCDS30862.1	1																																																																																			KPRP	-	NULL	ENSG00000203786		0.552	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	-	0	29	0	G	NM_001025231		152732307	1	tier1	-	no_errors	ENST00000368773	ensembl	human	known	74_37	silent	16.67	40	8	SNP	0.000	A	A	152732307	G	A	152732307	2	1	85	1	0	0	0	0	0	0	0	1	8463	1277	45	3		3	KPRP	1	152732307	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	604230	152732307	96518314	15	22565											
PGLYRP4	57115	genome.wustl.edu	37	chr1	153314237	153314237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccatggccgacagggcaGcagggctgggactgtggcct	6	8	16	11	1	0	0	0	0	0	0	1	2	1	1	3	5	1	3	3	5	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:153314237G>A	ENST00000359650.5	-	6	555	c.491C>T	c.(490-492)gCt>gTt	p.A164V	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.A160V	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	164					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGACAGGGCAGCAGGGCTGGG	0.542																																																	0													90	89	89					1																	153314237		2203	4300	6503	SO:0001583	missense	0			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.491C>T	1.37:g.153314237G>A	ENSP00000352672:p.Ala164Val		A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.A164V	ENST00000359650.5	37	c.491	CCDS30871.1	1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779154	0.31502	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.20200	2.09;2.09	4.2	1.14	0.20703	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.691156	0.12513	N	0.462315	T	0.07234	0.0183	L	0.55990	1.75	0.21719	N	0.999576	B;B	0.26400	0.122;0.148	B;B	0.34590	0.117;0.186	T	0.43327	-0.9398	10	0.29301	T	0.29	-45.5771	3.0718	0.06233	0.2394:0.0:0.549:0.2116	.	160;164	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	V	160;164	ENSP00000357728:A160V;ENSP00000352672:A164V	ENSP00000352672:A164V	A	-	2	0	PGLYRP4	151580861	0.000000	0.05858	0.820000	0.32676	0.801000	0.45260	0.277000	0.18734	0.044000	0.15775	-0.293000	0.09583	GCT	PGLYRP4	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	ENSG00000163218		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGLYRP4	HGNC	protein_coding	OTTHUMT00000089978.1	-	0	51	0	G	NM_020393		153314237	-1	tier1	-	no_errors	ENST00000359650	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.902	A	A	153314237	G	A	153314237	3	1	85	1	0	0	0	0	1	0	0	0	11835	971	34	3	646	3	PGLYRP4	1	153314237	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	581930	153314237	95936384	16	22566											
PGLYRP4	57115	genome.wustl.edu	37	chr1	153317794	153317794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtggtcagctgaatactGcagccaacagcttctgcccc	8	8	11	14	1	2	1	1	1	1	0	2	1	2	1	3	2	7	3	3	2	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:153317794G>C	ENST00000359650.5	-	4	268	c.204C>G	c.(202-204)tgC>tgG	p.C68W	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.C64W|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	68					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.C68C(1)|p.C68S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGAATACTGCAGCCAACAG	0.587																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											149	116	127					1																	153317794		2203	4300	6503	SO:0001583	missense	0			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.204C>G	1.37:g.153317794G>C	ENSP00000352672:p.Cys68Trp		A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.C68W	ENST00000359650.5	37	c.204	CCDS30871.1	1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720286	0.30503	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.22539	1.95;1.95	3.2	1.25	0.21368	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (3);	.	.	.	.	T	0.23965	0.0580	M	0.64630	1.985	0.35500	D	0.799737	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07121	-1.0789	9	0.72032	D	0.01	0.0485	5.514	0.16896	0.275:0.0:0.725:0.0	.	64;68	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	W	64;68	ENSP00000357728:C64W;ENSP00000352672:C68W	ENSP00000352672:C68W	C	-	3	2	PGLYRP4	151584418	0.672000	0.27530	0.099000	0.21106	0.806000	0.45545	1.035000	0.30216	0.205000	0.20568	0.313000	0.20887	TGC	PGLYRP4	-	superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	ENSG00000163218		0.587	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGLYRP4	HGNC	protein_coding	OTTHUMT00000089978.1	-	0	37	0	G	NM_020393		153317794	-1	tier1	-	no_errors	ENST00000359650	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.481	C	C	153317794	G	C	153317794	3	2	85	1	0	0	0	0	1	0	0	0	11835	1311	46	5	941	5	PGLYRP4	1	153317794	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	3557	153317794	95932827	17	22567											
NUP210L	91181	genome.wustl.edu	37	chr1	154091197	154091197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatgatgaggaaatgccaGaaatttgggtgtaagcatga	15	9	14	3	0	0	4	0	3	0	1	0	6	0	6	1	3	2	2	1	3	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:154091197G>C	ENST00000368559.3	-	11	1485	c.1414C>G	c.(1414-1416)Ctg>Gtg	p.L472V	NUP210L_ENST00000271854.3_Missense_Mutation_p.L472V	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	472					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GGAAATGCCAGAAATTTGGGT	0.353																																																	0													170	172	171					1																	154091197		1828	4086	5914	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1414C>G	1.37:g.154091197G>C	ENSP00000357547:p.Leu472Val		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L472V	ENST00000368559.3	37	c.1414	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106387	0.56291	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.43294	0.95;0.95	5.0	0.358	0.16084	Invasin/intimin cell-adhesion (1);	0.000000	0.43579	D	0.000545	T	0.40886	0.1135	M	0.67397	2.05	0.30155	N	0.802696	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.31223	-0.9951	10	0.28530	T	0.3	-0.125	10.01	0.41981	0.3355:0.0:0.6645:0.0	.	472;472	E7EP56;Q5VU65	.;P210L_HUMAN	V	472	ENSP00000357547:L472V;ENSP00000271854:L472V	ENSP00000271854:L472V	L	-	1	2	NUP210L	152357821	0.999000	0.42202	0.998000	0.56505	0.878000	0.50629	0.551000	0.23361	0.170000	0.19704	0.460000	0.39030	CTG	NUP210L	-	superfamily_Invasin/intimin_cell_adhesion	ENSG00000143552		0.353	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	-	0	38	0	G	NM_207308		154091197	-1	tier1	-	no_errors	ENST00000368559	ensembl	human	known	74_37	missense	26.92	38	14	SNP	0.997	C	C	154091197	G	C	154091197	3	2	85	1	0	0	0	0	1	0	0	0	10800	933	33	5	4372	5	NUP210L	1	154091197	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	773403	154091197	95159424	18	22568											
EFNA3	1944	genome.wustl.edu	37	chr1	155057657	155057657	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctcgggggtgggcccCggggcgggaccggggcccgg	4	2	22	13	5	0	0	0	0	0	0	1	1	0	1	4	9	2	1	4	9	1	0	rs199552063	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:155057657C>G	ENST00000368408.3	+	2	289	c.219C>G	c.(217-219)ccC>ccG	p.P73P	EFNA3_ENST00000505139.1_Silent_p.P68P|EFNA3_ENST00000418360.2_Silent_p.P73P|EFNA3_ENST00000556931.1_Silent_p.P68P	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	73	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.			Missing (in Ref. 2; AAA52368). {ECO:0000305}.	axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGTgggccccggggcgggac	0.662																																																	0													19	25	23					1																	155057657		2168	4252	6420	SO:0001819	synonymous_variant	0			BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"Ephrins"	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.219C>G	1.37:g.155057657C>G			B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.P73	ENST00000368408.3	37	c.219	CCDS1090.1	1																																																																																			EFNA3	-	pfam_Ephrin,superfamily_Cupredoxin	ENSG00000143590		0.662	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFNA3	HGNC	protein_coding	OTTHUMT00000085429.1		0	23	0	C	NM_004952		155057657	1			no_errors	ENST00000368408	ensembl	human	known	74_37	silent	25.00	24	8	SNP	0.969	G	G	155057657	C	G	155057657	2	3	85	1	0	0	0	0	0	0	0	1	4966	639	23	5		5	EFNA3	1	155057657	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	966460	155057657	94192964	19	22569											
DAP3	7818	genome.wustl.edu	37	chr1	155698908	155698908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctctgggagaagtggttGaacaggtataagaaaaaaca	16	8	12	5	0	1	3	0	1	1	2	2	4	2	3	1	3	2	2	1	3	7	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:155698908G>C	ENST00000368336.5	+	8	803	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	DAP3_ENST00000343043.3_Missense_Mutation_p.E227Q|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.E193Q|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.E186Q|DAP3_ENST00000535183.1_Missense_Mutation_p.E186Q	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	227					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAAGTGGTTGAACAGGTATA	0.398																																																	0													106	116	113					1																	155698908		2203	4300	6503	SO:0001583	missense	0			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"Mitochondrial ribosomal proteins / small subunits"	2673	protein-coding gene	gene with protein product	"mitochondrial 28S ribosomal protein S29"	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.679G>C	1.37:g.155698908G>C	ENSP00000357320:p.Glu227Gln		B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit	p.E227Q	ENST00000368336.5	37	c.679	CCDS1120.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653117	0.88056	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.55	5.55	0.83447	.	0.052222	0.85682	D	0.000000	T	0.56470	0.1987	M	0.67397	2.05	0.58432	D	0.999996	D;D;D	0.67145	0.992;0.996;0.992	D;D;D	0.66847	0.915;0.947;0.915	T	0.57106	-0.7868	10	0.72032	D	0.01	-21.6396	17.4437	0.87573	0.0:0.0:1.0:0.0	.	186;193;227	B4DP59;E7EM60;P51398	.;.;RT29_HUMAN	Q	227;227;193;186	ENSP00000357320:E227Q;ENSP00000341692:E227Q;ENSP00000412605:E193Q;ENSP00000445003:E186Q	ENSP00000341692:E227Q	E	+	1	0	DAP3	153965532	1.000000	0.71417	0.960000	0.40013	0.993000	0.82548	5.939000	0.70179	2.890000	0.99128	0.585000	0.79938	GAA	DAP3	-	pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit	ENSG00000132676		0.398	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	-	0	44	0	G	NM_004632		155698908	1	tier1	-	no_errors	ENST00000343043	ensembl	human	known	74_37	missense	20.34	47	12	SNP	0.997	C	C	155698908	G	C	155698908	3	2	85	1	0	0	0	0	1	0	0	0	4243	1291	45	5	705	5	DAP3	1	155698908	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	641251	155698908	93551713	20	22570											
IQGAP3	128239	genome.wustl.edu	37	chr1	156509318	156509318	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatcagcttggccaggtaGatgggctgagtctgcaagca	11	8	14	8	0	2	3	1	1	1	2	2	3	2	3	1	3	3	5	1	3	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:156509318G>C	ENST00000361170.2	-	25	2914	c.2904C>G	c.(2902-2904)atC>atG	p.I968M	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	968					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCCAGGTAGATGGGCTGAG	0.512																																																	0													86	78	81					1																	156509318		2203	4300	6503	SO:0001583	missense	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2904C>G	1.37:g.156509318G>C	ENSP00000354451:p.Ile968Met		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.I968M	ENST00000361170.2	37	c.2904	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282209	0.23392	.	.	ENSG00000183856	ENST00000361170	D	0.82081	-1.57	4.8	4.8	0.61643	Rho GTPase activation protein (1);	0.448765	0.24504	N	0.037941	T	0.61299	0.2336	L	0.29908	0.895	0.32733	N	0.508797	B	0.33448	0.412	B	0.34722	0.188	T	0.63603	-0.6600	10	0.46703	T	0.11	-7.8644	8.2515	0.31724	0.0:0.1688:0.6567:0.1746	.	968	Q86VI3	IQGA3_HUMAN	M	968	ENSP00000354451:I968M	ENSP00000354451:I968M	I	-	3	3	IQGAP3	154775942	0.001000	0.12720	1.000000	0.80357	0.938000	0.57974	-0.086000	0.11233	2.482000	0.83794	0.655000	0.94253	ATC	IQGAP3	-	superfamily_Rho_GTPase_activation_prot	ENSG00000183856		0.512	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1		0	26	0	G	NM_178229		156509318	-1			no_errors	ENST00000361170	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C	C	156509318	G	C	156509318	3	2	85	1	0	0	0	0	1	0	0	0	7843	932	33	5	2047	5	IQGAP3	1	156509318	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	810410	156509318	92741303	21	22571											
KIRREL	55243	genome.wustl.edu	37	chr1	158063162	158063162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcatcatagctggggccaCcatcggcgcgagcatcctgc	7	6	14	14	3	1	0	1	0	0	0	3	1	2	0	3	4	3	3	3	4	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:158063162C>T	ENST00000359209.6	+	12	1572	c.1505C>T	c.(1504-1506)aCc>aTc	p.T502I	KIRREL_ENST00000416935.2_Missense_Mutation_p.T402I|KIRREL_ENST00000360089.4_Missense_Mutation_p.T338I|KIRREL_ENST00000368172.1_Missense_Mutation_p.T316I|KIRREL_ENST00000368173.3_Missense_Mutation_p.T518I|KIRREL_ENST00000392272.2_Missense_Mutation_p.T399I			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	502					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCTGGGGCCACCATCGGCGCG	0.577																																																	0													214	208	210					1																	158063162		2203	4300	6503	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1505C>T	1.37:g.158063162C>T	ENSP00000352138:p.Thr502Ile		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T518I	ENST00000359209.6	37	c.1553	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824150	0.90873	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.68903	0.62;-0.36;0.29;0.01;0.1;0.45	5.52	5.52	0.82312	.	0.000000	0.44483	D	0.000444	T	0.68586	0.3017	L	0.47716	1.5	0.54753	D	0.999982	D;D;D;D	0.71674	0.992;0.998;0.993;0.993	P;P;P;P	0.59288	0.764;0.855;0.738;0.738	T	0.70619	-0.4822	10	0.56958	D	0.05	-35.6452	16.9353	0.86202	0.0:1.0:0.0:0.0	.	402;338;316;502	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	I	338;518;399;502;402;316	ENSP00000353202:T338I;ENSP00000357155:T518I;ENSP00000376098:T399I;ENSP00000352138:T502I;ENSP00000389674:T402I;ENSP00000357154:T316I	ENSP00000352138:T502I	T	+	2	0	KIRREL	156329786	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.483000	0.66838	2.589000	0.87451	0.491000	0.48974	ACC	KIRREL	-	NULL	ENSG00000183853		0.577	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0	40	0	C	NM_018240		158063162	1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	missense	11.11	31	4	SNP	1.000	T	T	158063162	C	T	158063162	3	4	85	1	0	0	0	0	1	0	0	0	8351	507	18	3	1551	3	KIRREL	1	158063162	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1553844	158063162	91187459	22	22572											
FCRLB	127943	genome.wustl.edu	37	chr1	161693354	161693354	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagacaccaggggtgtatCgatgccagacacggggagca	11	5	15	10	2	0	2	0	0	0	2	1	4	0	3	2	4	3	3	2	4	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:161693354C>T	ENST00000367948.2	+	5	465	c.250C>T	c.(250-252)Cga>Tga	p.R84*	FCRLB_ENST00000367946.3_Nonsense_Mutation_p.R84*|FCRLB_ENST00000392158.1_Nonsense_Mutation_p.R84*|FCRLB_ENST00000336830.5_Nonsense_Mutation_p.R84*|FCRLB_ENST00000367944.3_Nonsense_Mutation_p.R77*|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.R77*			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	84	Ig-like C2-type 1.				negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			AGGGGTGTATCGATGCCAGAC	0.592																																																	0													89	79	83					1																	161693354		2203	4300	6503	SO:0001587	stop_gained	0			AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	26431	protein-coding gene	gene with protein product		609251	"Fc receptor-like and mucin-like 2"	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.250C>T	1.37:g.161693354C>T	ENSP00000356925:p.Arg84*		A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Nonsense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.R84*	ENST00000367948.2	37	c.250	CCDS30927.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.222844	0.98146	.	.	ENSG00000162746	ENST00000367948;ENST00000367946;ENST00000367945;ENST00000336830;ENST00000367944;ENST00000392158	.	.	.	5.61	3.72	0.42706	.	0.000000	0.44285	D	0.000462	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8371	0.52330	0.2689:0.7311:0.0:0.0	.	.	.	.	X	84;84;77;84;77;84	.	ENSP00000338598:R84X	R	+	1	2	FCRLB	159959978	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	0.886000	0.28241	0.701000	0.31803	0.655000	0.94253	CGA	FCRLB	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000162746		0.592	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRLB	HGNC	protein_coding	OTTHUMT00000083585.1		0	35	0	C	NM_152378		161693354	1			no_errors	ENST00000367948	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T	T	161693354	C	T	161693354	4	4	85	1	0	0	0	0	0	1	0	0	5823	876	31	1	260	1	FCRLB	1	161693354	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	3630192	161693354	87557267	23	22573											
RGS4	5999	genome.wustl.edu	37	chr1	163042230	163042230	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcctgctgcaaaaatcTgattcctgtgaacacaattc	11	13	7	10	0	1	2	0	2	1	0	4	2	3	2	2	1	3	3	2	1	4	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:163042230T>A	ENST00000367909.6	+	2	430	c.90T>A	c.(88-90)tcT>tcA	p.S30S	RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Silent_p.S30S|RGS4_ENST00000421743.2_Silent_p.S127S|RGS4_ENST00000367906.3_Silent_p.S12S|RGS4_ENST00000531057.1_Silent_p.S30S|RGS4_ENST00000527809.1_Silent_p.S12S	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	30					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TGCAAAAATCTGATTCCTGTG	0.363																																					Ovarian(76;1257 1738 3039 6086)												0													79	77	78					1																	163042230		2203	4300	6503	SO:0001819	synonymous_variant	0			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"Regulators of G-protein signaling"	10000	protein-coding gene	gene with protein product		602516	"regulator of G-protein signalling 4", "schizophrenia disorder 9"	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.90T>A	1.37:g.163042230T>A			A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Silent	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S127	ENST00000367909.6	37	c.381	CCDS1243.1	1																																																																																			RGS4	-	NULL	ENSG00000117152		0.363	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	-	0	52	0	T	NM_005613		163042230	1	tier1	-	no_errors	ENST00000421743	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.910	A	A	163042230	T	A	163042230	2	1	85	1	0	0	0	0	0	0	0	1	13352	1567	55	5		5	RGS4	1	163042230	Silent	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	1348876	163042230	86208391	24	22574											
PBX1	5087	genome.wustl.edu	37	chr1	164789343	164789343	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacatgtcaaactctggAgatttgttcatgagcgtgca	11	14	9	7	1	3	2	2	1	1	1	3	3	3	2	0	1	4	2	0	1	2	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:164789343A>T	ENST00000420696.2	+	7	1220	c.1032A>T	c.(1030-1032)ggA>ggT	p.G344G	PBX1_ENST00000560641.1_Silent_p.G239G|PBX1_ENST00000540246.1_Silent_p.G239G|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000367897.1_Intron|PBX1_ENST00000540236.1_Silent_p.G344G	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	344					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CAAACTCTGGAGATTTGTTCA	0.488			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"L, M"	0													86	85	85					1																	164789343		2203	4300	6503	SO:0001819	synonymous_variant	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"Homeoboxes / TALE class"	8632	protein-coding gene	gene with protein product		176310	"pre-B-cell leukemia transcription factor 1"				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.1032A>T	1.37:g.164789343A>T			B4DSC1|F5H4U9|Q5T488	Silent	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G344	ENST00000420696.2	37	c.1032	CCDS1246.1	1																																																																																			PBX1	-	NULL	ENSG00000185630		0.488	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	-	0	72	0	A	NM_002585		164789343	1	tier1	-	no_errors	ENST00000420696	ensembl	human	known	74_37	silent	15.09	45	8	SNP	1.000	T	T	164789343	A	T	164789343	2	4	85	1	0	0	0	0	0	0	0	1	11531	291	11	5		5	PBX1	1	164789343	Silent	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	1747113	164789343	84461278	25	22575											
CACYBP	27101	genome.wustl.edu	37	chr1	174979138	174979138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatttatgaagatggagacGatgatatgaagcgaaccatt	17	10	10	4	2	0	5	0	3	0	2	0	8	0	5	1	1	2	0	1	1	6	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:174979138G>A	ENST00000367679.2	+	6	1058	c.610G>A	c.(610-612)Gat>Aat	p.D204N	MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000367681.2_Missense_Mutation_p.D161N|CACYBP_ENST00000405362.1_Missense_Mutation_p.D161N	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	204	Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.|SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGATGGAGACGATGATATGAA	0.383																																																	0													97	94	95					1																	174979138		2203	4300	6503	SO:0001583	missense	0			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.610G>A	1.37:g.174979138G>A	ENSP00000356652:p.Asp204Asn		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	pfam_Siah-Interact_N,pfam_CS_dom,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_SGS	p.D204N	ENST00000367679.2	37	c.610	CCDS1315.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.560342	0.96527	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	.	.	.	5.89	5.89	0.94794	SGS (2);	0.000000	0.85682	D	0.000000	D	0.86251	0.5888	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87919	0.2702	9	0.87932	D	0	-22.5047	20.2561	0.98419	0.0:0.0:1.0:0.0	.	204	Q9HB71	CYBP_HUMAN	N	161;177;204;161	.	ENSP00000356652:D204N	D	+	1	0	CACYBP	173245761	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.296000	0.96104	2.797000	0.96272	0.563000	0.77884	GAT	CACYBP	-	pfam_SGS,pfscan_SGS	ENSG00000116161		0.383	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACYBP	HGNC	protein_coding	OTTHUMT00000084583.3	-	0	47	0	G	NM_014412		174979138	1	tier1	-	no_errors	ENST00000367679	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	A	A	174979138	G	A	174979138	3	1	85	1	0	0	0	0	1	0	0	0	2571	1058	37	1	632	1	CACYBP	1	174979138	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	10189795	174979138	74271483	26	22576											
RGL1	23179	genome.wustl.edu	37	chr1	183895404	183895404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggctgctggagtaacaGacacagcaaaatcaccctct	13	6	10	12	1	2	1	1	0	1	1	2	2	2	2	1	3	3	4	1	3	3	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:183895404G>T	ENST00000360851.3	+	18	2463	c.2285G>T	c.(2284-2286)aGa>aTa	p.R762I	RGL1_ENST00000539189.1_Missense_Mutation_p.R733I|RGL1_ENST00000304685.4_Missense_Mutation_p.R797I|RGL1_ENST00000536277.1_Missense_Mutation_p.R760I			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	762					cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TGGAGTAACAGACACAGCAAA	0.527																																																	0													58	55	56					1																	183895404		2203	4300	6503	SO:0001583	missense	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2285G>T	1.37:g.183895404G>T	ENSP00000354097:p.Arg762Ile		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R797I	ENST00000360851.3	37	c.2390		1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609926	0.87258	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.55413	0.53;0.53;0.61;0.61;0.52	5.37	5.37	0.77165	.	0.046667	0.85682	D	0.000000	T	0.58250	0.2109	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.997	D;D;D;D	0.69142	0.962;0.916;0.916;0.916	T	0.61282	-0.7094	10	0.87932	D	0	.	12.4607	0.55731	0.0779:0.0:0.9221:0.0	.	733;760;762;797	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	I	797;797;760;762;733	ENSP00000303192:R797I;ENSP00000356501:R797I;ENSP00000438662:R760I;ENSP00000354097:R762I;ENSP00000437355:R733I	ENSP00000303192:R797I	R	+	2	0	RGL1	182162027	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	8.675000	0.91195	2.666000	0.90696	0.650000	0.86243	AGA	RGL1	-	NULL	ENSG00000143344		0.527	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	-	0	30	0	G	NM_015149		183895404	1	tier1	-	no_errors	ENST00000304685	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	183895404	G	T	183895404	3	4	85	1	0	0	0	0	1	0	0	0	13321	942	33	3	2460	3	RGL1	1	183895404	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	8916266	183895404	65355217	27	22577											
FAM129A	116496	genome.wustl.edu	37	chr1	184792837	184792837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcagcaggtctgtctgaaGagtgggcaggagctcctcca	9	7	15	10	0	2	2	0	1	2	1	4	3	4	3	2	4	2	4	2	4	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:184792837G>C	ENST00000367511.3	-	7	950	c.757C>G	c.(757-759)Ctt>Gtt	p.L253V	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_Intron	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	253					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTGTCTGAAGAGTGGGCAGG	0.527																																																	0													128	114	119					1																	184792837		2203	4300	6503	SO:0001583	missense	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.757C>G	1.37:g.184792837G>C	ENSP00000356481:p.Leu253Val		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.L253V	ENST00000367511.3	37	c.757	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787743	0.90367	.	.	ENSG00000135842	ENST00000367511	T	0.21543	2.0	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	M	0.78049	2.395	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.41963	-0.9479	10	0.45353	T	0.12	-18.8693	18.1565	0.89693	0.0:0.0:1.0:0.0	.	253	Q9BZQ8	NIBAN_HUMAN	V	253	ENSP00000356481:L253V	ENSP00000356481:L253V	L	-	1	0	FAM129A	183059460	1.000000	0.71417	0.908000	0.35775	0.942000	0.58702	6.419000	0.73345	2.713000	0.92767	0.655000	0.94253	CTT	FAM129A	-	NULL	ENSG00000135842		0.527	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	-	0	32	0	G			184792837	-1	tier1	-	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.999	C	C	184792837	G	C	184792837	3	2	85	1	0	0	0	0	1	0	0	0	5455	942	33	5	2061	5	FAM129A	1	184792837	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	897433	184792837	64457784	28	22578											
CFH	3075	genome.wustl.edu	37	chr1	196706631	196706631	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccatgttcacaaccacctCagatagaacacggaaccatt	14	9	5	13	1	2	2	2	0	0	2	3	3	3	3	4	1	3	1	4	1	4	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:196706631C>T	ENST00000367429.4	+	17	2863	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	875	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACAACCACCTCAGATAGAACA	0.308																																																	0													50	48	49					1																	196706631		2203	4300	6503	SO:0001587	stop_gained	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2623C>T	1.37:g.196706631C>T	ENSP00000356399:p.Gln875*		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q875*	ENST00000367429.4	37	c.2623	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	38	7.067073	0.98040	.	.	ENSG00000000971	ENST00000367429	.	.	.	5.52	-6.09	0.02145	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	4.4254	0.11500	0.417:0.2747:0.2399:0.0683	.	.	.	.	X	875	.	ENSP00000356399:Q875X	Q	+	1	0	CFH	194973254	0.000000	0.05858	0.004000	0.12327	0.128000	0.20619	-1.146000	0.03191	-0.646000	0.05452	0.650000	0.86243	CAG	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.308	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	-	0	47	0	C	NM_000186		196706631	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	nonsense	18.03	50	11	SNP	0.001	T	T	196706631	C	T	196706631	4	4	85	1	0	0	0	0	0	1	0	0	3290	827	29	3	2707	3	CFH	1	196706631	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	11913794	196706631	52543990	29	22579											
CFHR2	3080	genome.wustl.edu	37	chr1	196927174	196927174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaaataacatgtagaaacgGacaatggtcagaaccaccaa	19	6	7	9	1	2	2	2	0	0	2	2	3	2	3	2	2	3	1	2	2	7	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:196927174G>A	ENST00000367415.5	+	4	684	c.584G>A	c.(583-585)gGa>gAa	p.G195E	CFHR2_ENST00000476712.2_Missense_Mutation_p.G179E|CFHR2_ENST00000367421.3_Missense_Mutation_p.G195E|CFHR2_ENST00000496448.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	195	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TGTAGAAACGGACAATGGTCA	0.373																																																	0													173	156	162					1																	196927174		2203	4300	6503	SO:0001583	missense	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.584G>A	1.37:g.196927174G>A	ENSP00000356385:p.Gly195Glu		Q14310|Q5T9T1	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G195E	ENST00000367415.5	37	c.584	CCDS30959.1	1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.955482	0.73902	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.60424	0.19;0.19	4.14	4.14	0.48551	Complement control module (2);Sushi/SCR/CCP (3);	0.251419	0.20792	N	0.085598	T	0.81683	0.4874	H	0.95884	3.735	0.26244	N	0.978827	D;D	0.63046	0.992;0.992	D;D	0.64506	0.926;0.926	T	0.77542	-0.2549	10	0.72032	D	0.01	.	13.9049	0.63828	0.0:0.0:1.0:0.0	.	168;195	P36980-2;P36980	.;FHR2_HUMAN	E	195	ENSP00000356391:G195E;ENSP00000356385:G195E	ENSP00000356385:G195E	G	+	2	0	CFHR2	195193797	0.998000	0.40836	0.341000	0.25589	0.186000	0.23388	3.728000	0.54991	1.831000	0.53308	0.609000	0.83330	GGA	CFHR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000080910		0.373	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR2	HGNC	protein_coding	OTTHUMT00000088815.2	-	0	54	0	G	NM_005666		196927174	1	tier1	-	no_errors	ENST00000367415	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.994	A	A	196927174	G	A	196927174	3	1	85	1	0	0	0	0	1	0	0	0	3292	1174	41	3	598	3	CFHR2	1	196927174	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	220543	196927174	52323447	30	22580											
DENND1B	163486	genome.wustl.edu	37	chr1	197552366	197552366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttacaaaactctcctcacaGaaagtgatgggctcacccta	13	10	6	12	0	3	2	2	1	1	1	4	2	3	2	2	1	2	1	2	1	5	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:197552366G>A	ENST00000367396.3	-	15	1234	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	DENND1B_ENST00000235453.4_Silent_p.F325F|DENND1B_ENST00000400967.2_Silent_p.F325F	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	355	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TCTCCTCACAGAAAGTGATGG	0.413																																																	0													75	72	73					1																	197552366		1852	4112	5964	SO:0001819	synonymous_variant	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"DENN/MADD domain containing"	28404	protein-coding gene	gene with protein product		613292	"family with sequence similarity 31, member B", "chromosome 1 open reading frame 218"	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.1065C>T	1.37:g.197552366G>A			B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Silent	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.F355	ENST00000367396.3	37	c.1065	CCDS41452.2	1																																																																																			DENND1B	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000213047		0.413	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	-	0	31	0	G	NM_144977		197552366	-1	tier1	-	no_errors	ENST00000367396	ensembl	human	known	74_37	silent	13.64	19	3	SNP	1.000	A	A	197552366	G	A	197552366	2	1	85	1	0	0	0	0	0	0	0	1	4441	933	33	3		3	DENND1B	1	197552366	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	625192	197552366	51698255	31	22581											
ATP2B4	493	genome.wustl.edu	37	chr1	203652486	203652486	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtccactatggaggtgtAcagaatctctgcagtagact	12	11	10	8	0	1	2	0	0	1	2	3	3	2	3	1	2	2	3	1	2	5	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:203652486A>G	ENST00000357681.5	+	2	1276	c.153A>G	c.(151-153)gtA>gtG	p.V51V	ATP2B4_ENST00000341360.2_Silent_p.V51V|ATP2B4_ENST00000391954.2_Silent_p.V51V|ATP2B4_ENST00000367219.3_Silent_p.V51V|ATP2B4_ENST00000367218.3_Silent_p.V51V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	51					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGGTGTACAGAATCTCT	0.493																																																	0													131	118	123					1																	203652486		2203	4300	6503	SO:0001819	synonymous_variant	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"ATPases / P-type"	817	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 4"	108732	"matrix-remodelling associated 1"	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.153A>G	1.37:g.203652486A>G			B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.V51	ENST00000357681.5	37	c.153	CCDS1440.1	1																																																																																			ATP2B4	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N	ENSG00000058668		0.493	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1		0	47	0	A	NM_001001396		203652486	1			no_errors	ENST00000357681	ensembl	human	known	74_37	silent	5.56	33	2	SNP	0.000	G	G	203652486	A	G	203652486	2	3	85	1	0	0	0	0	0	0	0	1	1143	378	14	4		4	ATP2B4	1	203652486	Silent	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	6100120	203652486	45598135	32	22582											
REN	5972	genome.wustl.edu	37	chr1	204125333	204125333	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcttcttggctcccaaGgcctccatgagcttctctat	6	13	7	15	0	3	1	0	1	3	0	6	1	5	1	4	2	2	2	4	2	2	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:204125333G>T	ENST00000272190.8	-	8	961	c.933C>A	c.(931-933)gcC>gcA	p.A311A	REN_ENST00000367195.2_Silent_p.A308A	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	311					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGGCTCCCAAGGCCTCCATGA	0.567																																																	0													202	198	199					1																	204125333		2203	4300	6503	SO:0001819	synonymous_variant	0			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.933C>A	1.37:g.204125333G>T			Q6FI38|Q6T5C2	Silent	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.A311	ENST00000272190.8	37	c.933	CCDS30981.1	1																																																																																			REN	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000143839		0.567	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1		0	42	0	G	NM_000537		204125333	-1			no_errors	ENST00000272190	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.306	T	T	204125333	G	T	204125333	2	4	85	1	0	0	0	0	0	0	0	1	13269	987	35	3		3	REN	1	204125333	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	472847	204125333	45125288	33	22583											
IARS2	55699	genome.wustl.edu	37	chr1	220279397	220279397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagcgtctcagcacaacctgCccatggtactgttcctcttt	7	13	7	14	1	2	0	1	0	2	0	4	0	3	0	3	1	5	3	3	1	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:220279397C>T	ENST00000302637.5	+	9	1335	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	IARS2_ENST00000366922.1_Missense_Mutation_p.P339S	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	411					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GCACAACCTGCCCATGGTACT	0.383																																																	0													144	136	139					1																	220279397		2203	4300	6503	SO:0001583	missense	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1231C>T	1.37:g.220279397C>T	ENSP00000303279:p.Pro411Ser		B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.P411S	ENST00000302637.5	37	c.1231	CCDS1523.1	1	.	.	.	.	.	.	.	.	.	.	C	9.440	1.087823	0.20390	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.79033	-1.23;-1.23	5.47	-2.45	0.06481	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.452495	0.26731	N	0.022793	T	0.72003	0.3407	L	0.61387	1.9	0.53688	D	0.999978	B	0.14012	0.009	B	0.17979	0.02	T	0.64253	-0.6451	10	0.51188	T	0.08	-17.6978	14.4824	0.67592	0.0:0.7327:0.0:0.2673	.	411	Q9NSE4	SYIM_HUMAN	S	339;411	ENSP00000355889:P339S;ENSP00000303279:P411S	ENSP00000303279:P411S	P	+	1	0	IARS2	218346020	0.972000	0.33761	0.281000	0.24762	0.267000	0.26476	0.277000	0.18734	-0.312000	0.08741	-0.218000	0.12543	CCC	IARS2	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase	ENSG00000067704		0.383	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding			0	25	0	C	NM_018060		220279397	1			no_errors	ENST00000302637	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.930	T	T	220279397	C	T	220279397	3	4	85	1	0	0	0	0	1	0	0	0	7501	739	26	3	1265	3	IARS2	1	220279397	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	16154064	220279397	28971224	34	22584											
HEATR1	55127	genome.wustl.edu	37	chr1	236717912	236717912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttacctgatccaccagagGcatcatcaaggcttctgctc	9	10	9	13	0	3	2	2	1	1	1	5	2	4	2	3	3	2	4	3	3	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr1:236717912G>T	ENST00000366582.3	-	42	6178	c.6064C>A	c.(6064-6066)Cct>Act	p.P2022T	HEATR1_ENST00000366581.2_Missense_Mutation_p.P1941T	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2022					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCCACCAGAGGCATCATCAAG	0.408																																																	0													89	87	88					1																	236717912		2203	4300	6503	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.6064C>A	1.37:g.236717912G>T	ENSP00000355541:p.Pro2022Thr		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.P2022T	ENST00000366582.3	37	c.6064	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695215	0.88830	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.63913	-0.07;-0.07	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84374	0.5458	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.97110	0.966;1.0	D	0.86058	0.1530	10	0.59425	D	0.04	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1941;2022	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	T	2022;1941	ENSP00000355541:P2022T;ENSP00000355540:P1941T	ENSP00000355540:P1941T	P	-	1	0	HEATR1	234784535	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.974000	0.93433	2.941000	0.99782	0.655000	0.94253	CCT	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.408	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	-	0	46	0	G	XM_375853		236717912	-1	tier1	-	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	236717912	G	T	236717912	3	4	85	1	0	0	0	0	1	0	0	0	7054	1203	42	3	386	3	HEATR1	1	236717912	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	16438515	236717912	12532709	35	22585											
ALLC	55821	genome.wustl.edu	37	chr2	3743330	3743330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaattgcacgacttagaGtattcggtactggacaaaaa	14	10	11	6	2	0	1	0	0	0	1	1	4	0	3	0	3	2	3	0	3	6	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:3743330G>T	ENST00000252505.3	+	8	697	c.535G>T	c.(535-537)Gta>Tta	p.V179L	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	198					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACGACTTAGAGTATTCGGTAC	0.453										HNSCC(21;0.051)																																							0													89	89	89					2																	3743330		1911	4123	6034	SO:0001583	missense	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.535G>T	2.37:g.3743330G>T	ENSP00000252505:p.Val179Leu		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.V179L	ENST00000252505.3	37	c.535	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	G	15.23	2.770635	0.49680	.	.	ENSG00000151360	ENST00000252505	.	.	.	5.42	5.42	0.78866	Allantoicase domain (1);Galactose-binding domain-like (1);	0.111469	0.64402	D	0.000012	T	0.65523	0.2699	L	0.41632	1.29	0.48571	D	0.999673	D	0.60575	0.988	P	0.61940	0.896	T	0.60662	-0.7219	9	0.28530	T	0.3	-14.5835	16.7056	0.85371	0.0:0.0:1.0:0.0	.	198	Q8N6M5	ALLC_HUMAN	L	179	.	ENSP00000252505:V179L	V	+	1	0	ALLC	3721205	1.000000	0.71417	0.141000	0.22245	0.090000	0.18270	5.547000	0.67249	2.554000	0.86153	0.561000	0.74099	GTA	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	ENSG00000151360		0.453	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	-	0	52	0	G			3743330	1	tier1	-	no_errors	ENST00000252505	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.870	T	T	3743330	G	T	3743330	3	4	85	1	0	0	0	0	1	0	0	0	534	1029	36	3	561	3	ALLC	2	3743330	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		3743330	239456043	36	22586											
ASAP2	8853	genome.wustl.edu	37	chr2	9528534	9528534	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctgcaaaccttgccaagGagaagcagagggctttcatg	12	8	12	9	0	1	2	1	0	0	2	1	3	1	2	2	2	5	4	2	2	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:9528534G>T	ENST00000281419.3	+	22	2582	c.2242G>T	c.(2242-2244)Gag>Tag	p.E748*	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Nonsense_Mutation_p.E748*	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	748			E -> D (in dbSNP:rs2715860). {ECO:0000269|PubMed:15489334}.		positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCTTGCCAAGGAGAAGCAGAG	0.607																																																	0													57	62	61					2																	9528534		2203	4300	6503	SO:0001587	stop_gained	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2242G>T	2.37:g.9528534G>T	ENSP00000281419:p.Glu748*		D6W4Y8	Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.E748*	ENST00000281419.3	37	c.2242	CCDS1661.1	2	.	.	.	.	.	.	.	.	.	.	G	45	11.398698	0.99556	.	.	ENSG00000151693	ENST00000281419;ENST00000315273	.	.	.	5.58	5.58	0.84498	.	0.622139	0.16303	N	0.220363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.5623	0.95376	0.0:0.0:1.0:0.0	.	.	.	.	X	748	.	ENSP00000281419:E748X	E	+	1	0	ASAP2	9445985	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.369000	0.97156	2.620000	0.88729	0.561000	0.74099	GAG	ASAP2	-	NULL	ENSG00000151693		0.607	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	0	86	0	G	NM_003887		9528534	1	tier1	-	no_errors	ENST00000281419	ensembl	human	known	74_37	nonsense	5.36	106	6	SNP	1.000	T	T	9528534	G	T	9528534	4	4	85	1	0	0	0	0	0	1	0	0	1012	1175	41	3	2328	3	ASAP2	2	9528534	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	5785204	9528534	233670839	37	22587											
ROCK2	9475	genome.wustl.edu	37	chr2	11355639	11355639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctacaccacaaaccatCattttccaaatttcgttttt	12	17	1	11	1	2	0	1	0	1	0	4	0	3	0	3	0	2	1	3	0	4	8			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:11355639C>A	ENST00000315872.6	-	14	2042	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	ROCK2_ENST00000401753.1_Missense_Mutation_p.D289Y	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	532	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CACAAACCATCATTTTCCAAA	0.338																																																	0													115	112	113					2																	11355639		1820	4085	5905	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1594G>T	2.37:g.11355639C>A	ENSP00000317985:p.Asp532Tyr		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.D532Y	ENST00000315872.6	37	c.1594	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	C	14.35	2.507996	0.44558	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	D;D	0.85629	-2.01;-2.01	4.9	4.9	0.64082	.	0.051585	0.85682	D	0.000000	T	0.77226	0.4099	N	0.14661	0.345	0.50632	D	0.999889	B	0.10296	0.003	B	0.19946	0.027	T	0.73056	-0.4103	10	0.56958	D	0.05	.	18.4356	0.90645	0.0:1.0:0.0:0.0	.	532	O75116	ROCK2_HUMAN	Y	532;289	ENSP00000317985:D532Y;ENSP00000385509:D289Y	ENSP00000317985:D532Y	D	-	1	0	ROCK2	11273090	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	6.025000	0.70864	2.434000	0.82447	0.655000	0.94253	GAT	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kin	ENSG00000134318		0.338	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	-	0	60	0	C			11355639	-1	tier1	-	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	25.32	59	20	SNP	1.000	A	A	11355639	C	A	11355639	3	1	85	1	0	0	0	0	1	0	0	0	13563	826	29	3	2652	3	ROCK2	2	11355639	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1827105	11355639	231843734	38	22588											
FAM49A	81553	genome.wustl.edu	37	chr2	16769367	16769367	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttcaatttccctggtaagGactttgagcaggtttcccat	8	16	8	9	0	1	1	1	1	0	0	3	2	3	2	2	3	1	3	2	3	2	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:16769367G>C	ENST00000381323.3	-	3	241	c.21C>G	c.(19-21)gtC>gtG	p.V7V	FAM49A_ENST00000355549.2_Silent_p.V7V|FAM49A_ENST00000406434.1_Silent_p.V7V	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	7						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CCCTGGTAAGGACTTTGAGCA	0.343																																																	0													48	49	49					2																	16769367		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.21C>G	2.37:g.16769367G>C			B3KNZ1|Q53QW2	Silent	SNP	pfam_DUF1394	p.V7	ENST00000381323.3	37	c.21	CCDS1688.1	2																																																																																			FAM49A	-	NULL	ENSG00000197872		0.343	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49A	HGNC	protein_coding	OTTHUMT00000207203.2	-	0	66	0	G	NM_030797		16769367	-1	tier1	-	no_errors	ENST00000355549	ensembl	human	known	74_37	silent	11.94	59	8	SNP	1.000	C	C	16769367	G	C	16769367	2	2	85	1	0	0	0	0	0	0	0	1	5597	1161	41	5		5	FAM49A	2	16769367	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	5413728	16769367	226430006	39	22589											
NT5C1B	93034	genome.wustl.edu	37	chr2	18765458	18765458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcgtagattttcctgcCgtccaccatgttgaagagcg	7	13	10	11	3	0	3	0	1	0	2	3	3	2	3	4	0	3	3	4	0	2	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:18765458C>T	ENST00000359846.2	-	6	1044	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	NT5C1B_ENST00000460052.1_5'Flank|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000600945.1_Missense_Mutation_p.G323S|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.G323S|NT5C1B_ENST00000304081.4_Missense_Mutation_p.G263S	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	323					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.G323S(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATTTTCCTGCCGTCCACCATG	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											165	157	160					2																	18765458		2203	4300	6503	SO:0001583	missense	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.967G>A	2.37:g.18765458C>T	ENSP00000352904:p.Gly323Ser		B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.G323S	ENST00000359846.2	37	c.967	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	C	13.24	2.177290	0.38413	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.88586	-2.4	5.58	4.71	0.59529	.	0.366985	0.32852	N	0.005561	T	0.69663	0.3136	N	0.02674	-0.535	0.31997	N	0.603868	B;B;B;B;B;B;B;B;B	0.30326	0.091;0.091;0.091;0.091;0.07;0.085;0.147;0.091;0.276	B;B;B;B;B;B;B;B;B	0.20767	0.014;0.014;0.014;0.014;0.003;0.014;0.031;0.014;0.024	T	0.68213	-0.5468	10	0.05525	T	0.97	-13.8612	14.8118	0.70000	0.0:0.9306:0.0:0.0694	.	306;340;263;306;265;115;263;323;323	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	S	323;265;263;323	ENSP00000412639:G265S	ENSP00000305979:G263S	G	-	1	0	NT5C1B-RDH14;NT5C1B	18628939	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.734000	0.68580	1.495000	0.48549	0.650000	0.86243	GGC	NT5C1B	-	NULL	ENSG00000185013		0.552	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	-	0	34	0	C			18765458	-1	tier1	-	no_errors	ENST00000359846	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T	T	18765458	C	T	18765458	3	4	85	1	0	0	0	0	1	0	0	0	10725	652	23	1	885	1	NT5C1B	2	18765458	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1996091	18765458	224433915	40	22590											
RBKS	64080	genome.wustl.edu	37	chr2	28065945	28065945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataattacctccactcctgCgggccattgttagggcttcc	7	13	8	13	1	0	0	0	0	0	0	3	0	3	0	5	2	2	2	5	2	4	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:28065945C>G	ENST00000302188.3	-	5	1255	c.503G>C	c.(502-504)cGc>cCc	p.R168P	RBKS_ENST00000444339.2_Missense_Mutation_p.R168P	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	168					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TCCACTCCTGCGGGCCATTGT	0.403																																																	0													71	72	72					2																	28065945		2203	4300	6503	SO:0001583	missense	0			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.503G>C	2.37:g.28065945C>G	ENSP00000306817:p.Arg168Pro		A9UK04|B4DV96	Missense_Mutation	SNP	pfam_PfkB_dom,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac	p.R168P	ENST00000302188.3	37	c.503	CCDS1762.1	2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434155	0.62955	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.78003	-1.14;-1.14	5.87	-0.375	0.12509	Carbohydrate/purine kinase (1);	0.185954	0.64402	D	0.000020	D	0.85084	0.5616	M	0.83384	2.64	0.80722	D	1	D;D	0.69078	0.997;0.974	D;P	0.63793	0.918;0.846	D	0.83923	0.0302	10	0.66056	D	0.02	-1.8892	10.8855	0.46964	0.0:0.5305:0.0:0.4695	.	168;168	B4DV96;Q9H477	.;RBSK_HUMAN	P	168	ENSP00000306817:R168P;ENSP00000413232:R168P	ENSP00000306817:R168P	R	-	2	0	RBKS	27919449	0.016000	0.18221	0.677000	0.29947	0.946000	0.59487	-1.122000	0.03267	-0.287000	0.09064	-0.782000	0.03352	CGC	RBKS	-	pfam_PfkB_dom,tigrfam_D_ribokin_bac	ENSG00000171174		0.403	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBKS	HGNC	protein_coding	OTTHUMT00000215118.1	-	0	76	0	C	NM_022128		28065945	-1	tier1	-	no_errors	ENST00000302188	ensembl	human	known	74_37	missense	21.52	62	17	SNP	0.963	G	G	28065945	C	G	28065945	3	3	85	1	0	0	0	0	1	0	0	0	13153	768	27	5	481	5	RBKS	2	28065945	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	9300487	28065945	215133428	41	22591											
HEATR5B	54497	genome.wustl.edu	37	chr2	37268374	37268374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattccaccaacataacgatGcaaacaaccaagagccaatg	18	6	5	12	1	0	1	0	0	0	1	1	2	1	1	4	0	6	1	4	0	7	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:37268374G>T	ENST00000233099.5	-	19	2853	c.2758C>A	c.(2758-2760)Cat>Aat	p.H920N	HEATR5B_ENST00000354531.2_Missense_Mutation_p.H920N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	920						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H920Y(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACATAACGATGCAAACAACCA	0.433																																																	1	Substitution - Missense(1)	lung(1)											178	155	163					2																	37268374		2203	4300	6503	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2758C>A	2.37:g.37268374G>T	ENSP00000233099:p.His920Asn		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H920N	ENST00000233099.5	37	c.2758	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.099521	0.94197	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.08720	3.06;3.06	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.35251	-0.9796	10	0.59425	D	0.04	-16.8044	19.2841	0.94063	0.0:0.0:1.0:0.0	.	920	Q9P2D3	HTR5B_HUMAN	N	920	ENSP00000233099:H920N;ENSP00000346531:H920N	ENSP00000233099:H920N	H	-	1	0	HEATR5B	37121878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.906000	0.87423	2.535000	0.85469	0.655000	0.94253	CAT	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.433	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1		0	50	0	G	NM_019024		37268374	-1			no_errors	ENST00000233099	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	37268374	G	T	37268374	3	4	85	1	0	0	0	0	1	0	0	0	7059	1319	46	3	3529	3	HEATR5B	2	37268374	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	9202429	37268374	205930999	42	22592											
CCT4	10575	genome.wustl.edu	37	chr2	62099446	62099446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcaccacctcctgcaataAgagccctgaaattcacaaat	15	7	6	13	0	1	2	1	1	0	1	2	3	2	2	4	0	3	2	4	0	4	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:62099446A>G	ENST00000394440.3	-	12	1558	c.1262T>C	c.(1261-1263)cTt>cCt	p.L421P	CCT4_ENST00000544185.1_Missense_Mutation_p.L271P|CCT4_ENST00000538252.1_Missense_Mutation_p.L365P|CCT4_ENST00000544079.1_Missense_Mutation_p.L391P|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000461540.2_Intron	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	421					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TCCTGCAATAAGAGCCCTGAA	0.308																																																	0													31	31	31					2																	62099446		2203	4300	6503	SO:0001583	missense	0				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"Heat Shock Proteins / Chaperonins"	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1262T>C	2.37:g.62099446A>G	ENSP00000377958:p.Leu421Pro		B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta	p.L421P	ENST00000394440.3	37	c.1262	CCDS33206.1	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080246	0.76528	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.93618	0.7962	H	0.98594	4.275	0.80722	D	1	D;D	0.65815	0.993;0.995	D;D	0.71870	0.943;0.975	D	0.95970	0.8969	10	0.87932	D	0	-10.8348	15.3121	0.74042	1.0:0.0:0.0:0.0	.	391;421	F5H5W3;P50991	.;TCPD_HUMAN	P	421;391;271;365	ENSP00000377958:L421P;ENSP00000443061:L391P;ENSP00000443451:L271P;ENSP00000442174:L365P	ENSP00000377958:L421P	L	-	2	0	CCT4	61952950	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.253000	0.95501	2.156000	0.67533	0.533000	0.62120	CTT	CCT4	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta	ENSG00000115484		0.308	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT4	HGNC	protein_coding	OTTHUMT00000325548.2	-	0	43	0	A			62099446	-1	tier1	-	no_errors	ENST00000394440	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G	G	62099446	A	G	62099446	3	3	85	1	0	0	0	0	1	0	0	0	2962	72	3	4	369	4	CCT4	2	62099446	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	24831072	62099446	181099927	43	22593											
CTNNA2	1496	genome.wustl.edu	37	chr2	80874927	80874927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccagacacgagttcgacGaggttctcagaagaaacaca	15	7	9	10	3	1	3	1	0	1	3	4	6	2	3	1	1	1	2	1	1	2	3	rs529691509		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:80874927G>A	ENST00000402739.4	+	18	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_ENST00000466387.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R562Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R883Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R838Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R917Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	931					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.G932A(1)|p.R883P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGTTCGACGAGGTTCTCAG	0.438																																																	2	Substitution - Missense(2)	skin(2)											130	129	129					2																	80874927		1848	4090	5938	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2792G>A	2.37:g.80874927G>A	ENSP00000384638:p.Arg931Gln		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R917Q	ENST00000402739.4	37	c.2750		2	.	.	.	.	.	.	.	.	.	.	G	35	5.439588	0.96168	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.51574	0.86;0.86;0.82;0.7;0.86;0.74;2.09	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000002	T	0.65637	0.2710	L	0.54323	1.7	0.58432	D	0.999994	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.68353	0.794;0.957;0.956;0.956	T	0.59799	-0.7386	9	.	.	.	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	515;931;838;883	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	883;883;917;931;883;838;562	ENSP00000418191:R883Q;ENSP00000419295:R883Q;ENSP00000355398:R917Q;ENSP00000384638:R931Q;ENSP00000444675:R883Q;ENSP00000441705:R838Q;ENSP00000341500:R562Q	.	R	+	2	0	CTNNA2	80728438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	CGA	CTNNA2	-	NULL	ENSG00000066032		0.438	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4		0	31	0	G	NM_004389		80874927	1			no_errors	ENST00000361291	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A	A	80874927	G	A	80874927	3	1	85	1	0	0	0	0	1	0	0	0	4022	1058	37	1	2506	1	CTNNA2	2	80874927	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	18775481	80874927	162324446	44	22594											
SNRNP200	23020	genome.wustl.edu	37	chr2	96956138	96956138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgaaaccatctggctttCaataggaagttgttgattga	11	15	9	6	0	2	3	1	3	1	0	2	4	2	4	1	2	1	3	1	2	4	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:96956138C>T	ENST00000323853.5	-	20	2745	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	890	Helicase C-terminal 1. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATCTGGCTTTCAATAGGAAGT	0.483																																																	0													174	163	167					2																	96956138		2203	4300	6503	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2668G>A	2.37:g.96956138C>T	ENSP00000317123:p.Glu890Lys		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E890K	ENST00000323853.5	37	c.2668	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.540125	0.96474	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.45276	0.9	5.74	5.74	0.90152	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	H	0.94886	3.595	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.82157	-0.0596	10	0.87932	D	0	-26.0753	18.7061	0.91639	0.0:1.0:0.0:0.0	.	890	O75643	U520_HUMAN	K	890;565	ENSP00000317123:E890K	ENSP00000317123:E890K	E	-	1	0	SNRNP200	96319865	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	7.794000	0.85869	2.712000	0.92718	0.563000	0.77884	GAA	SNRNP200	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000144028		0.483	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	-	0	49	0	C	NM_014014		96956138	-1	tier1	-	no_errors	ENST00000323853	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T	T	96956138	C	T	96956138	3	4	85	1	0	0	0	0	1	0	0	0	14897	835	29	3	3846	3	SNRNP200	2	96956138	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	16081211	96956138	146243235	45	22595											
MGAT4A	11320	genome.wustl.edu	37	chr2	99271934	99271934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaatatatgcccttttcttGagcatacatcattagaaaac	14	14	5	8	0	2	2	1	1	1	1	2	2	2	2	1	0	4	2	1	0	7	8			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:99271934G>C	ENST00000264968.3	-	7	1111	c.748C>G	c.(748-750)Caa>Gaa	p.Q250E	MGAT4A_ENST00000393487.1_Missense_Mutation_p.Q250E|MGAT4A_ENST00000409391.1_Missense_Mutation_p.Q250E|MGAT4A_ENST00000414521.2_Missense_Mutation_p.Q122E|MGAT4A_ENST00000461884.1_5'Flank			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	250					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CCCTTTTCTTGAGCATACATC	0.294																																																	0													115	108	110					2																	99271934		2203	4300	6503	SO:0001583	missense	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.748C>G	2.37:g.99271934G>C	ENSP00000264968:p.Gln250Glu		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.Q250E	ENST00000264968.3	37	c.748	CCDS2036.1	2	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299651	0.60195	.	.	ENSG00000071073	ENST00000393487;ENST00000414521;ENST00000264968;ENST00000409391	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.23	5.23	0.72850	.	0.110840	0.64402	D	0.000007	T	0.54240	0.1846	M	0.85462	2.755	0.44798	D	0.997807	P;P	0.42123	0.771;0.771	B;B	0.42738	0.389;0.396	T	0.59473	-0.7448	10	0.37606	T	0.19	-2.1389	18.1482	0.89665	0.0:0.0:1.0:0.0	.	122;250	E9PEN2;Q9UM21	.;MGT4A_HUMAN	E	250;122;250;250	ENSP00000377127:Q250E;ENSP00000404889:Q122E;ENSP00000264968:Q250E;ENSP00000386841:Q250E	ENSP00000264968:Q250E	Q	-	1	0	MGAT4A	98638366	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.256000	0.58810	2.599000	0.87857	0.655000	0.94253	CAA	MGAT4A	-	pfam_Glyco_transf_54	ENSG00000071073		0.294	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2		0	21	0	G	NM_012214		99271934	-1			no_errors	ENST00000264968	ensembl	human	known	74_37	missense	11.54	22	3	SNP	1.000	C	C	99271934	G	C	99271934	3	2	85	1	0	0	0	0	1	0	0	0	9583	1299	45	5	974	5	MGAT4A	2	99271934	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2315796	99271934	143927439	46	22596											
TSGA10	80705	genome.wustl.edu	37	chr2	99697803	99697803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgtagctcatattttttCttagcaaggtgtcgctgagt	8	16	10	7	1	2	1	1	1	1	0	3	1	2	1	0	1	3	5	0	1	4	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:99697803C>G	ENST00000393483.3	-	11	1513	c.669G>C	c.(667-669)aaG>aaC	p.K223N	TSGA10_ENST00000542655.1_Missense_Mutation_p.K223N|TSGA10_ENST00000539964.1_Missense_Mutation_p.K223N|TSGA10_ENST00000410001.1_Missense_Mutation_p.K223N|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.K223N	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	223					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CATATTTTTTCTTAGCAAGGT	0.274																																																	0													66	69	68					2																	99697803		2201	4288	6489	SO:0001583	missense	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.669G>C	2.37:g.99697803C>G	ENSP00000377123:p.Lys223Asn		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	NULL	p.K223N	ENST00000393483.3	37	c.669	CCDS2037.1	2	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472493	0.43942	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99	4.96	4.08	0.47627	.	0.000000	0.56097	D	0.000023	T	0.26195	0.0639	N	0.25647	0.755	0.39507	D	0.968296	B;B	0.23650	0.089;0.089	B;B	0.23574	0.047;0.028	T	0.07654	-1.0761	10	0.18276	T	0.48	-22.3431	8.5511	0.33451	0.0:0.8984:0.0:0.1016	.	223;223	B7Z925;Q9BZW7	.;TSG10_HUMAN	N	223	ENSP00000377123:K223N;ENSP00000386956:K223N;ENSP00000347161:K223N;ENSP00000444419:K223N;ENSP00000386508:K223N;ENSP00000377122:K223N;ENSP00000445623:K223N	ENSP00000347161:K223N	K	-	3	2	TSGA10	99064235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.010000	0.40913	2.732000	0.93576	0.585000	0.79938	AAG	TSGA10	-	NULL	ENSG00000135951		0.274	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	-	0	99	0	C	NM_182911		99697803	-1	tier1	-	no_errors	ENST00000355053	ensembl	human	known	74_37	missense	21.37	92	25	SNP	1.000	G	G	99697803	C	G	99697803	3	3	85	1	0	0	0	0	1	0	0	0	16665	912	32	5	1471	5	TSGA10	2	99697803	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	425869	99697803	143501570	47	22597											
BUB1	699	genome.wustl.edu	37	chr2	111427127	111427127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgcagaggttctgaggttCtagctatgagggaaaagagg	12	10	15	4	0	2	4	0	2	2	2	2	5	2	5	0	4	2	4	0	4	5	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:111427127C>G	ENST00000302759.6	-	6	588	c.470G>C	c.(469-471)aGa>aCa	p.R157T	BUB1_ENST00000535254.1_Missense_Mutation_p.R137T|BUB1_ENST00000409311.1_Missense_Mutation_p.R157T	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	157	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTCTGAGGTTCTAGCTATGAG	0.343																																																	0													107	105	106					2																	111427127		2203	4300	6503	SO:0001583	missense	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.470G>C	2.37:g.111427127C>G	ENSP00000302530:p.Arg157Thr		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R157T	ENST00000302759.6	37	c.470	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	C	6.908	0.537144	0.13188	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.29655	2.29;1.56;2.55	4.91	0.872	0.19113	Mad3/BUB1 homology region 1 (1);	0.721746	0.13812	N	0.361009	T	0.16214	0.0390	L	0.27053	0.805	0.21822	N	0.999523	B;B;B	0.15473	0.008;0.008;0.013	B;B;B	0.08055	0.003;0.002;0.002	T	0.30001	-0.9993	10	0.14656	T	0.56	-5.6911	5.1691	0.15101	0.0:0.4372:0.2955:0.2673	.	137;157;157	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	T	137;157;157;157	ENSP00000441013:R137T;ENSP00000386701:R157T;ENSP00000302530:R157T	ENSP00000302530:R157T	R	-	2	0	BUB1	111143598	0.473000	0.25878	0.958000	0.39756	0.912000	0.54170	0.165000	0.16564	0.177000	0.19895	0.460000	0.39030	AGA	BUB1	-	NULL	ENSG00000169679		0.343	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	-	0	33	0	C	NM_004336		111427127	-1	tier1	-	no_errors	ENST00000302759	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.672	G	G	111427127	C	G	111427127	3	3	85	1	0	0	0	0	1	0	0	0	1574	913	32	5	2867	5	BUB1	2	111427127	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	11729324	111427127	131772246	48	22598											
GLI2	2736	genome.wustl.edu	37	chr2	121746894	121746894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttaggctttggggcgccctCcagcctgaacaaaaataaca	12	8	10	11	1	0	1	0	1	0	0	1	1	1	1	3	3	3	2	3	3	5	3	rs140601980		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:121746894C>G	ENST00000452319.1	+	14	3464	c.3404C>G	c.(3403-3405)tCc>tGc	p.S1135C	GLI2_ENST00000314490.11_Missense_Mutation_p.S807C|GLI2_ENST00000361492.4_Missense_Mutation_p.S1135C					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGGGCGCCCTCCAGCCTGAAC	0.647																																																	0													29	29	29					2																	121746894		2198	4292	6490	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3404C>G	2.37:g.121746894C>G	ENSP00000390436:p.Ser1135Cys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1135C	ENST00000452319.1	37	c.3404	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262776	0.39995	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.15718	2.4;2.4;2.47	4.77	4.77	0.60923	.	1.013780	0.07876	N	0.968773	T	0.33847	0.0877	L	0.53249	1.67	0.09310	N	1	P;P;P;P	0.52577	0.923;0.954;0.946;0.954	B;P;P;P	0.53035	0.338;0.639;0.716;0.54	T	0.32666	-0.9898	10	0.62326	D	0.03	.	16.2067	0.82134	0.0:1.0:0.0:0.0	.	1135;790;790;807	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	C	1135;1135;807	ENSP00000390436:S1135C;ENSP00000354586:S1135C;ENSP00000312694:S807C	ENSP00000312694:S807C	S	+	2	0	GLI2	121463364	0.794000	0.28838	0.242000	0.24170	0.876000	0.50452	4.432000	0.59922	2.485000	0.83878	0.449000	0.29647	TCC	GLI2	-	NULL	ENSG00000074047		0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	-	0	40	0	C	NM_005270		121746894	1	tier1	-	no_errors	ENST00000361492	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.057	G	G	121746894	C	G	121746894	3	3	85	1	0	0	0	0	1	0	0	0	6464	855	30	5	3454	5	GLI2	2	121746894	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	10319767	121746894	121452479	49	22599											
HS6ST1	9394	genome.wustl.edu	37	chr2	129026040	129026040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgaagggccggatgaacTtgaggttgaacgtccgctcg	9	8	15	9	4	0	4	0	4	0	0	2	5	1	5	2	3	2	3	2	3	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:129026040T>C	ENST00000259241.6	-	2	945	c.932A>G	c.(931-933)aAg>aGg	p.K311R		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	311					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CCGGATGAACTTGAGGTTGAA	0.617																																																	0													37	38	38					2																	129026040		2101	4218	6319	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"Sulfotransferases, membrane-bound"	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.932A>G	2.37:g.129026040T>C	ENSP00000259241:p.Lys311Arg		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.K311R	ENST00000259241.6	37	c.932	CCDS42748.1	2	.	.	.	.	.	.	.	.	.	.	T	8.597	0.885888	0.17540	.	.	ENSG00000136720	ENST00000259241	D	0.82893	-1.66	4.78	2.38	0.29361	.	0.116513	0.64402	D	0.000020	T	0.62514	0.2434	N	0.05608	-0.01	0.40354	D	0.979165	B	0.09022	0.002	B	0.08055	0.003	T	0.46512	-0.9186	9	.	.	.	-6.5638	8.7591	0.34663	0.0:0.156:0.0:0.844	.	311	O60243	H6ST1_HUMAN	R	311	ENSP00000259241:K311R	.	K	-	2	0	HS6ST1	128742510	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.853000	0.55941	0.213000	0.20722	0.379000	0.24179	AAG	HS6ST1	-	pfam_Sulfotransferase	ENSG00000136720		0.617	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	-	0	69	0	T	NM_004807		129026040	-1	tier1	-	no_errors	ENST00000259241	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	C	C	129026040	T	C	129026040	3	2	85	1	0	0	0	0	1	0	0	0	7397	1609	56	4	307	4	HS6ST1	2	129026040	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	7279146	129026040	114173333	50	22600											
LY75	4065	genome.wustl.edu	37	chr2	160755458	160755458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagccgatgctgggacacCcacttccataacttgtcctc	10	9	8	14	1	0	1	0	0	0	1	3	3	2	2	4	1	3	1	4	1	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:160755458C>A	ENST00000263636.4	-	2	234	c.207G>T	c.(205-207)tgG>tgT	p.W69C	LY75_ENST00000553424.1_Missense_Mutation_p.W69C|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.W69C|LY75_ENST00000554112.1_Missense_Mutation_p.W69C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.W69C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	69	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCTGGGACACCCACTTCCATA	0.483																																																	0													149	127	135					2																	160755458		2203	4300	6503	SO:0001583	missense	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.207G>T	2.37:g.160755458C>A	ENSP00000263636:p.Trp69Cys		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.W69C	ENST00000263636.4	37	c.207	CCDS2211.1	2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423841	0.83667	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	6.02	6.02	0.97574	Ricin B-related lectin (1);Ricin B lectin (2);	0.000000	0.33180	N	0.005198	T	0.67683	0.2919	M	0.85859	2.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.70346	-0.4897	10	0.87932	D	0	-8.2306	20.5407	0.99260	0.0:1.0:0.0:0.0	.	69;69;69	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	C	69	ENSP00000451511:W69C;ENSP00000451446:W69C;ENSP00000263636:W69C;ENSP00000423463:W69C;ENSP00000421035:W69C	ENSP00000423463:W69C	W	-	3	0	LY75;LY75-CD302	160463704	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.750000	0.74888	2.865000	0.98341	0.655000	0.94253	TGG	LY75	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000054219		0.483	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	-	0	41	0	C			160755458	-1	tier1	-	no_errors	ENST00000554112	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	160755458	C	A	160755458	3	1	85	1	0	0	0	0	1	0	0	0	9135	624	22	3	5097	3	LY75	2	160755458	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	31729418	160755458	82443915	51	22601											
IFIH1	64135	genome.wustl.edu	37	chr2	163133265	163133265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggctttgactcctacttCagcaaatttttcattttcag	8	17	7	9	0	3	1	3	1	0	0	4	1	4	1	1	1	2	2	1	1	2	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:163133265C>T	ENST00000263642.2	-	11	2631	c.2236G>A	c.(2236-2238)Gaa>Aaa	p.E746K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	746	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTCCTACTTCAGCAAATTTT	0.418																																																	0													223	219	221					2																	163133265		2203	4300	6503	SO:0001583	missense	0			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"helicard"	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2236G>A	2.37:g.163133265C>T	ENSP00000263642:p.Glu746Lys		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E746K	ENST00000263642.2	37	c.2236	CCDS2217.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314863	0.81358	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05319	3.46	5.55	4.67	0.58626	Helicase, C-terminal (2);	0.091972	0.85682	D	0.000000	T	0.06600	0.0169	N	0.04245	-0.25	0.51012	D	0.999906	B	0.30511	0.282	B	0.43274	0.414	T	0.53194	-0.8473	10	0.38643	T	0.18	-21.8514	16.5586	0.84534	0.0:0.8694:0.1306:0.0	.	746	Q9BYX4	IFIH1_HUMAN	K	746	ENSP00000263642:E746K	ENSP00000263642:E746K	E	-	1	0	IFIH1	162841511	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	4.792000	0.62467	1.324000	0.45282	-0.150000	0.13652	GAA	IFIH1	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000115267		0.418	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIH1	HGNC	protein_coding	OTTHUMT00000255078.2	-	0	66	0	C	NM_022168		163133265	-1	tier1	-	no_errors	ENST00000263642	ensembl	human	known	74_37	missense	30.00	49	21	SNP	1.000	T	T	163133265	C	T	163133265	3	4	85	1	0	0	0	0	1	0	0	0	7547	835	29	3	865	3	IFIH1	2	163133265	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2377807	163133265	80066108	52	22602											
LRP2	4036	genome.wustl.edu	37	chr2	170101433	170101433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgaacgccgaagatgaaCaggtattatctacaatagta	16	9	10	6	2	1	3	0	2	1	1	1	4	1	3	1	2	3	2	1	2	9	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:170101433C>A	ENST00000263816.3	-	22	3485	c.3200G>T	c.(3199-3201)tGt>tTt	p.C1067F	LRP2_ENST00000443831.1_Missense_Mutation_p.C930F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1067	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CGAAGATGAACAGGTATTATC	0.443																																																	0													139	123	128					2																	170101433		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3200G>T	2.37:g.170101433C>A	ENSP00000263816:p.Cys1067Phe		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C1067F	ENST00000263816.3	37	c.3200	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515638	0.64634	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.99519	-6.07;-6.07	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	H	0.99143	4.445	0.80722	D	1	D;D	0.67145	0.996;0.984	D;D	0.77004	0.989;0.911	D	0.96894	0.9655	10	0.87932	D	0	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	930;1067	E9PC35;P98164	.;LRP2_HUMAN	F	1067;930	ENSP00000263816:C1067F;ENSP00000409813:C930F	ENSP00000263816:C1067F	C	-	2	0	LRP2	169809679	1.000000	0.71417	0.786000	0.31890	0.038000	0.13279	7.567000	0.82357	2.880000	0.98712	0.650000	0.86243	TGT	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.443	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	20	0	C	NM_004525		170101433	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	A	A	170101433	C	A	170101433	3	1	85	1	0	0	0	0	1	0	0	0	8991	478	17	3	10999	3	LRP2	2	170101433	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	6968168	170101433	73097940	53	22603											
UBR3	130507	genome.wustl.edu	37	chr2	170865359	170865359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaatctgtaatgaaagatAtaaaaaataccactcagaag	20	9	7	5	0	2	3	1	1	1	2	2	4	2	4	1	1	1	1	1	1	9	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:170865359A>G	ENST00000272793.5	+	29	4326	c.4276A>G	c.(4276-4278)Ata>Gta	p.I1426V	UBR3_ENST00000392631.1_Missense_Mutation_p.I247V|UBR3_ENST00000418381.1_Missense_Mutation_p.I1426V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1426					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AATGAAAGATATAAAAAATAC	0.294																																																	0													35	38	37					2																	170865359		2203	4294	6497	SO:0001583	missense	0			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"Ubiquitin protein ligase E3 component n-recognins"	30467	protein-coding gene	gene with protein product		613831	"zinc finger protein 650"	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4276A>G	2.37:g.170865359A>G	ENSP00000272793:p.Ile1426Val		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.I1426V	ENST00000272793.5	37	c.4276		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.53|13.53	2.264157|2.264157	0.39995|0.39995	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000392632|ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	.|T;T;T;T	.|0.48522	.|0.81;0.81;0.81;0.81	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	0.049462|0.049462	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.45054|0.45054	0.1323|0.1323	L|L	0.59436|0.59436	1.845|1.845	0.34684|0.34684	D|D	0.725031|0.725031	.|B;B;B	.|0.22080	.|0.009;0.041;0.064	.|B;B;B	.|0.21151	.|0.008;0.033;0.032	T|T	0.53739|0.53739	-0.8396|-0.8396	6|10	.|0.25751	.|T	.|0.34	.|.	14.8814|14.8814	0.70537|0.70537	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1426;247;1426	.|Q6ZT12;Q6ZT12-2;E7EVK3	.|UBR3_HUMAN;.;.	M|V	487|1426;1426;1426;247;97	.|ENSP00000272793:I1426V;ENSP00000396068:I1426V;ENSP00000376408:I247V;ENSP00000389097:I97V	.|ENSP00000272793:I1426V	I|I	+|+	3|1	3|0	UBR3|UBR3	170573605|170573605	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.988000|0.988000	0.76386|0.76386	7.152000|7.152000	0.77419|0.77419	1.919000|1.919000	0.55581|0.55581	0.377000|0.377000	0.23210|0.23210	ATA|ATA	UBR3	-	NULL	ENSG00000144357		0.294	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	-	0	59	0	A	NM_172070		170865359	1	tier1	-	no_errors	ENST00000272793	ensembl	human	known	74_37	missense	17.28	67	14	SNP	1.000	G	G	170865359	A	G	170865359	3	3	85	1	0	0	0	0	1	0	0	0	16952	449	16	4	4390	4	UBR3	2	170865359	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	763926	170865359	72334014	54	22604											
TTN	7273	genome.wustl.edu	37	chr2	179408016	179408016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagtcggctaccaccatcGtagagtggtttttcccaggc	7	11	12	11	2	0	2	0	1	0	1	3	2	1	2	3	3	1	3	3	3	2	4	rs368423941		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:179408016G>A	ENST00000591111.1	-	297	91985	c.91761C>T	c.(91759-91761)taC>taT	p.Y30587Y	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y29660Y|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.Y23355Y|TTN_ENST00000359218.5_Silent_p.Y23288Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.Y32228Y|TTN_ENST00000460472.2_Silent_p.Y23163Y|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30587	Fibronectin type-III 123. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCACCATCGTAGAGTGGTT	0.507																																																	0								G	,,,	0,3844		0,0,1922	146	135	139		69489,88980,69864,70065	-11.2	0	2		139	5,8261		0,5,4128	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,5,6050	AA,AG,GG		0.0605,0.0,0.0413	,,,	23163/26927,29660/33424,23288/27052,23355/27119	179408016	5,12105	1922	4133	6055	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91761C>T	2.37:g.179408016G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Y29660	ENST00000591111.1	37	c.88980		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.507	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	31	0	G	NM_133378		179408016	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.030	A	A	179408016	G	A	179408016	2	1	85	1	0	0	0	0	0	0	0	1	16784	1140	40	1		1	TTN	2	179408016	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	8542657	179408016	63791357	55	22605											
TTN	7273	genome.wustl.edu	37	chr2	179424251	179424251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtgctccaccatcgttttCaggaacatcccaggataaca	11	10	8	12	1	1	0	1	0	0	0	4	2	3	2	3	3	3	2	3	3	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:179424251C>G	ENST00000591111.1	-	276	81909	c.81685G>C	c.(81685-81687)Gaa>Caa	p.E27229Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26302Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19997Q|TTN_ENST00000359218.5_Missense_Mutation_p.E19930Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28870Q|TTN_ENST00000460472.2_Missense_Mutation_p.E19805Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27229	Fibronectin type-III 98. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCGTTTTCAGGAACATCC	0.463																																																	0													148	142	144					2																	179424251		1934	4151	6085	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81685G>C	2.37:g.179424251C>G	ENSP00000465570:p.Glu27229Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E26302Q	ENST00000591111.1	37	c.78904		2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050537	0.55218	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.77	5.77	0.91146	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67813	0.2933	L	0.52266	1.64	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.991;0.991	P;P;P;P	0.62089	0.864;0.864;0.864;0.898	T	0.67964	-0.5534	9	0.87932	D	0	.	20.3473	0.98799	0.0:1.0:0.0:0.0	.	19805;19930;19997;27229	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	26302;19805;19997;19930;19802	ENSP00000343764:E26302Q;ENSP00000434586:E19805Q;ENSP00000340554:E19997Q;ENSP00000352154:E19930Q	ENSP00000340554:E19997Q	E	-	1	0	TTN	179132497	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.082000	0.71318	2.884000	0.98904	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	46	0	C	NM_133378		179424251	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	G	G	179424251	C	G	179424251	3	3	85	1	0	0	0	0	1	0	0	0	16784	835	29	5	21519	5	TTN	2	179424251	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	16235	179424251	63775122	56	22606											
TTN	7273	genome.wustl.edu	37	chr2	179610671	179610671	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccattaaactgcttaaagTcactttgcttttctttgcta	9	19	4	9	0	2	0	1	0	1	0	3	0	3	0	1	0	4	3	1	0	5	8			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:179610671T>C	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.T5486A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTAAAGTCACTTTGCTT	0.423																																																	0													106	102	103					2																	179610671		2203	4300	6503	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4023A>G	2.37:g.179610671T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T5486A	ENST00000591111.1	37	c.16456		2	.	.	.	.	.	.	.	.	.	.	T	13.80	2.345522	0.41498	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58358	0.34	6.07	6.07	0.98685	.	.	.	.	.	T	0.41442	0.1159	L	0.27053	0.805	0.80722	D	1	B	0.30914	0.3	B	0.33454	0.164	T	0.28299	-1.0048	9	0.18276	T	0.48	.	14.8705	0.70453	0.0:0.0:0.0:1.0	.	5486	Q8WZ42-6	.	A	5486;767	ENSP00000354117:T5486A	ENSP00000304714:T767A	T	-	1	0	TTN	179318916	1.000000	0.71417	0.997000	0.53966	0.409000	0.31022	4.832000	0.62759	2.326000	0.78906	0.533000	0.62120	ACT	TTN	-	NULL	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	33	0	T	NM_133378		179610671	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	179610671	T	C	179610671	1	2	85	0	1	0	0	0	0	0	0	0	16784	1667	58	4		4	TTN	2	179610671	Intron	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	186420	179610671	63588702	57	22607											
TTN	7273	genome.wustl.edu	37	chr2	179647638	179647638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttcgcgaatcataagacGagcaattccactctggaagg	12	9	10	10	3	2	1	1	0	1	1	4	4	3	2	1	2	2	2	1	2	4	3	rs142000511	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:179647638G>A	ENST00000591111.1	-	18	3219	c.2995C>T	c.(2995-2997)Cgt>Tgt	p.R999C	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R999C|TTN_ENST00000360870.5_Missense_Mutation_p.R999C|TTN_ENST00000342175.6_Missense_Mutation_p.R953C|TTN_ENST00000359218.5_Missense_Mutation_p.R953C|TTN_ENST00000589042.1_Missense_Mutation_p.R999C|TTN_ENST00000460472.2_Missense_Mutation_p.R953C			Q8WZ42	TITIN_HUMAN	titin	32552	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCATAAGACGAGCAATTCCA	0.493																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103	100	101		2857,2995,2995,2857,2857	5.3	1	2	dbSNP_134	101	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	953/26927,999/33424,999/5605,953/27052,953/27119	179647638	1,13005	2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2995C>T	2.37:g.179647638G>A	ENSP00000465570:p.Arg999Cys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R999C	ENST00000591111.1	37	c.2995		2	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845197	0.32606	2.27E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	6.17	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70815	0.3267	N	0.17312	0.475	0.42923	D	0.994295	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.74023	0.963;0.963;0.963;0.98;0.982	T	0.77059	-0.2728	9	0.87932	D	0	.	16.9456	0.86229	0.0:0.0:0.8711:0.1289	.	953;953;953;999;999	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	999;953;953;953;953;999	ENSP00000343764:R999C;ENSP00000434586:R953C;ENSP00000340554:R953C;ENSP00000352154:R953C;ENSP00000354117:R999C	ENSP00000340554:R953C	R	-	1	0	TTN	179355883	1.000000	0.71417	0.992000	0.48379	0.426000	0.31534	6.535000	0.73838	1.602000	0.50124	0.655000	0.94253	CGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	18	0	G	NM_133378		179647638	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	179647638	G	A	179647638	3	1	85	1	0	0	0	0	1	0	0	0	16784	1058	37	1	108373	1	TTN	2	179647638	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	36967	179647638	63551735	58	22608											
SESTD1	91404	genome.wustl.edu	37	chr2	180016092	180016092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggttctatataacgagtCaatttgttggcggacactaa	12	13	9	7	2	2	0	1	0	1	0	2	2	2	1	0	3	1	2	0	3	5	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:180016092C>T	ENST00000428443.3	-	6	712	c.396G>A	c.(394-396)ttG>ttA	p.L132L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	132	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TATAACGAGTCAATTTGTTGG	0.353																																																	0													70	69	69					2																	180016092		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.396G>A	2.37:g.180016092C>T			Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L132	ENST00000428443.3	37	c.396	CCDS33338.1	2																																																																																			SESTD1	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000187231		0.353	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	-	0	66	0	C	NM_178123		180016092	-1	tier1	-	no_errors	ENST00000428443	ensembl	human	known	74_37	silent	17.24	48	10	SNP	1.000	T	T	180016092	C	T	180016092	2	4	85	1	0	0	0	0	0	0	0	1	14172	825	29	3		3	SESTD1	2	180016092	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	368454	180016092	63183281	59	22609											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209200537	209200537	+	Frame_Shift_Del	DEL	C	C	-																															agtttcacaggtatatgttgCcattgatgaaagacttgcat																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:209200537delC	ENST00000264380.4	+	26	4435	c.4277delC	c.(4276-4278)gccfs	p.A1426fs	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1426					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTATATGTTGCCATTGATGAA	0.303																																																	0													75	79	78					2																	209200537		2203	4292	6495	SO:0001589	frameshift_variant	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.4277delC	2.37:g.209200537delC	ENSP00000264380:p.Ala1426fs		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Frame_Shift_Del	DEL	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.I1427fs	ENST00000264380.4	37	c.4277	CCDS2382.1	2																																																																																			PIKFYVE	-	NULL	ENSG00000115020		0.303	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2		0	50	0	C	NM_015040		209200537	1	tier1		no_errors	ENST00000264380	ensembl	human	known	74_37	frame_shift_del	34.78	30	16	DEL	1.000	-	-	209200537	C	-	209200537	7	5	85	1	0	1	0	1	0	0	0	0	11963	739	26	0	4386	0	PIKFYVE	2	209200537	Frame_Shift_Del	DEL	C	TCGA-L5-A8NK-01A-21D-A37C-09	29184445	209200537	33998836	60	22610											
TNS1	7145	genome.wustl.edu	37	chr2	218762544	218762544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgcctccatgtttggActtgagcatctgcgccacct	6	13	10	12	1	1	1	0	1	1	0	2	2	2	2	4	1	3	4	4	1	1	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:218762544A>G	ENST00000171887.4	-	6	597	c.145T>C	c.(145-147)Tcc>Ccc	p.S49P	TNS1_ENST00000419504.1_Missense_Mutation_p.S49P|TNS1_ENST00000310858.6_Missense_Mutation_p.S80P|TNS1_ENST00000430930.1_Missense_Mutation_p.S49P	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	49	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCATGTTTGGACTTGAGCATC	0.557																																																	0													191	170	177					2																	218762544		2203	4300	6503	SO:0001583	missense	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs", "SH2 domain containing"	11973	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 155"	600076	"tensin", "matrix-remodelling associated 6"	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.145T>C	2.37:g.218762544A>G	ENSP00000171887:p.Ser49Pro		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S49P	ENST00000171887.4	37	c.145	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019200	0.75275	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858;ENST00000413280;ENST00000439083;ENST00000423413	D;D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-4.72	5.54	5.54	0.83059	Phosphatase tensin type (1);	0.053979	0.85682	D	0.000000	D	0.98874	0.9619	M	0.81239	2.535	0.80722	D	1	D;B;B;D;D;D	0.89917	0.998;0.431;0.203;1.0;0.999;0.999	P;B;B;D;D;D	0.85130	0.889;0.244;0.199;0.997;0.933;0.933	D	0.99850	1.1070	10	0.87932	D	0	.	15.8465	0.78895	1.0:0.0:0.0:0.0	.	49;103;80;49;49;49	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	P	49;49;49;174;117;80;49;49;114	ENSP00000171887:S49P;ENSP00000408724:S49P;ENSP00000406016:S49P;ENSP00000405460:S174P;ENSP00000400383:S117P;ENSP00000308321:S80P;ENSP00000395615:S49P;ENSP00000404477:S49P;ENSP00000411349:S114P	ENSP00000171887:S49P	S	-	1	0	TNS1	218470789	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.326000	0.78906	0.533000	0.62120	TCC	TNS1	-	pfscan_Phosphatase_tensin-typ	ENSG00000079308		0.557	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	-	0	42	0	A	NM_022648		218762544	-1	tier1	-	no_errors	ENST00000171887	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	G	G	218762544	A	G	218762544	3	3	85	1	0	0	0	0	1	0	0	0	16390	275	10	4	5174	4	TNS1	2	218762544	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	9562007	218762544	24436829	61	22611											
SLC11A1	6556	genome.wustl.edu	37	chr2	219249019	219249019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggcctggcttcctcatGagcattgctttcctggaccc	5	11	11	14	1	1	1	1	1	0	0	3	2	3	2	4	4	2	3	4	4	0	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:219249019G>T	ENST00000233202.6	+	3	544	c.204G>T	c.(202-204)atG>atT	p.M68I	SLC11A1_ENST00000473367.1_Intron|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	68	Pro/Ser-rich.				activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTCCTCATGAGCATTGCTT	0.597																																																	0													111	106	108					2																	219249019		2203	4300	6503	SO:0001583	missense	0			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.204G>T	2.37:g.219249019G>T	ENSP00000233202:p.Met68Ile		C0H5Y3	Missense_Mutation	SNP	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	p.M68I	ENST00000233202.6	37	c.204	CCDS2415.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037289	0.93630	.	.	ENSG00000018280	ENST00000233202	T	0.16597	2.33	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.41824	1.3	0.80722	D	1	B;B;D	0.76494	0.119;0.371;0.999	B;B;D	0.70016	0.119;0.223;0.967	T	0.05616	-1.0874	10	0.87932	D	0	-46.717	18.6237	0.91330	0.0:0.0:1.0:0.0	.	68;68;68	Q9HBK0;B4DQ73;P49279	.;.;NRAM1_HUMAN	I	68	ENSP00000233202:M68I	ENSP00000233202:M68I	M	+	3	0	SLC11A1	218957263	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.340000	0.97038	2.620000	0.88729	0.561000	0.74099	ATG	SLC11A1	-	tigrfam_NRAMP-like	ENSG00000018280		0.597	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC11A1	HGNC	protein_coding	OTTHUMT00000195076.2	-	0	49	0	G	NM_000578		219249019	1	tier1	-	no_errors	ENST00000233202	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	219249019	G	T	219249019	3	4	85	1	0	0	0	0	1	0	0	0	14425	1290	45	3	214	3	SLC11A1	2	219249019	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	486475	219249019	23950354	62	22612											
PTPRN	5798	genome.wustl.edu	37	chr2	220161025	220161025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaccatcctccaccagcgGggtcagcatgacgatgacgg	10	5	12	14	3	1	2	1	2	0	0	3	4	3	2	4	3	2	1	4	3	0	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:220161025G>T	ENST00000295718.2	-	18	2671	c.2431C>A	c.(2431-2433)Ccg>Acg	p.P811T	PTPRN_ENST00000409251.3_Missense_Mutation_p.P782T|PTPRN_ENST00000497977.1_5'UTR|AC114803.3_ENST00000417355.1_RNA|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P721T	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	811	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TCCACCAGCGGGGTCAGCATG	0.612																																																	0													143	123	130					2																	220161025		2203	4300	6503	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2431C>A	2.37:g.220161025G>T	ENSP00000295718:p.Pro811Thr		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P811T	ENST00000295718.2	37	c.2431	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015727	0.54468	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.13196	2.61;2.61;2.61	4.66	4.66	0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.065461	0.64402	D	0.000007	T	0.22322	0.0538	N	0.13198	0.31	0.58432	D	0.999995	D;P	0.65815	0.995;0.544	D;B	0.69824	0.966;0.408	T	0.12837	-1.0532	10	0.62326	D	0.03	.	17.7136	0.88328	0.0:0.0:1.0:0.0	.	782;811	Q6NSL1;Q16849	.;PTPRN_HUMAN	T	782;811;782;721	ENSP00000386638:P782T;ENSP00000295718:P811T;ENSP00000444244:P721T	ENSP00000295718:P811T	P	-	1	0	PTPRN	219869269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.490000	0.66881	2.575000	0.86900	0.655000	0.94253	CCG	PTPRN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000054356		0.612	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2		0	23	0	G			220161025	-1			no_errors	ENST00000295718	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	220161025	G	T	220161025	3	4	85	1	0	0	0	0	1	0	0	0	12852	1232	43	3	532	3	PTPRN	2	220161025	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	912006	220161025	23038348	63	22613											
PTPRN	5798	genome.wustl.edu	37	chr2	220164085	220164085	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtgccggatgcggaaGgtgagggctggtcccaccac	7	8	15	11	2	1	1	1	1	0	0	2	3	2	3	3	5	2	1	3	5	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:220164085G>C	ENST00000295718.2	-	11	1785	c.1545C>G	c.(1543-1545)acC>acG	p.T515T	PTPRN_ENST00000409251.3_Silent_p.T486T|PTPRN_ENST00000497977.1_5'Flank|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.T425T	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	515					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGATGCGGAAGGTGAGGGCTG	0.567											OREG0015221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													149	142	144					2																	220164085		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1545C>G	2.37:g.220164085G>C		2264	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T515	ENST00000295718.2	37	c.1545	CCDS2440.1	2																																																																																			PTPRN	-	pfam_Receptor_IA-2	ENSG00000054356		0.567	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	-	0	33	0	G			220164085	-1	tier1	-	no_errors	ENST00000295718	ensembl	human	known	74_37	silent	12.50	35	5	SNP	1.000	C	C	220164085	G	C	220164085	2	2	85	1	0	0	0	0	0	0	0	1	12852	987	35	5		5	PTPRN	2	220164085	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	3060	220164085	23035288	64	22614											
OBSL1	23363	genome.wustl.edu	37	chr2	220430012	220430012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccccttctgtcctgcactCaaactcgccactgtcctgga	7	10	7	17	1	2	0	1	0	1	0	5	2	4	1	5	1	2	1	5	1	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:220430012C>G	ENST00000404537.1	-	6	2415	c.2359G>C	c.(2359-2361)Gag>Cag	p.E787Q	OBSL1_ENST00000265318.4_Missense_Mutation_p.E787Q|OBSL1_ENST00000289656.3_Missense_Mutation_p.E374Q|OBSL1_ENST00000603926.1_Missense_Mutation_p.E787Q|OBSL1_ENST00000373873.4_Missense_Mutation_p.E787Q|OBSL1_ENST00000373876.1_Missense_Mutation_p.E787Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	787	Ig-like 5.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTCCTGCACTCAAACTCGCCA	0.607											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													72	74	73					2																	220430012		2129	4251	6380	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2359G>C	2.37:g.220430012C>G	ENSP00000385636:p.Glu787Gln	2266	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E787Q	ENST00000404537.1	37	c.2359	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253348	0.59212	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35219	0.0924	N	0.04043	-0.29	0.31798	N	0.628722	B;B;D;B	0.59357	0.433;0.433;0.985;0.162	B;B;P;B	0.51055	0.328;0.328;0.657;0.242	T	0.34650	-0.9820	9	0.29301	T	0.29	.	19.9804	0.97323	0.0:1.0:0.0:0.0	.	788;787;374;787	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	Q	787;787;787;787;374	ENSP00000265318:E787Q;ENSP00000385636:E787Q;ENSP00000362983:E787Q;ENSP00000362980:E787Q;ENSP00000289656:E374Q	ENSP00000265318:E787Q	E	-	1	0	OBSL1	220138256	0.435000	0.25577	1.000000	0.80357	0.941000	0.58515	2.379000	0.44318	2.825000	0.97269	0.655000	0.94253	GAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000124006		0.607	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0	43	0	C			220430012	-1	tier1	-	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	G	G	220430012	C	G	220430012	3	3	85	1	0	0	0	0	1	0	0	0	10852	835	29	5	3547	5	OBSL1	2	220430012	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	265927	220430012	22769361	65	22615											
CUL3	8452	genome.wustl.edu	37	chr2	225368421	225368421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagaaacacttttatttGtgagaagtctccttgccaag	12	13	7	9	0	2	2	1	1	1	2	3	3	2	2	2	0	2	0	2	0	4	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:225368421G>T	ENST00000264414.4	-	9	1663	c.1325C>A	c.(1324-1326)aCa>aAa	p.T442K	CUL3_ENST00000344951.4_Missense_Mutation_p.T376K|CUL3_ENST00000409777.1_Missense_Mutation_p.T418K|CUL3_ENST00000409096.1_Missense_Mutation_p.T418K	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	442					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.T442R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACTTTTATTTGTGAGAAGTCT	0.313																																																	1	Substitution - Missense(1)	kidney(1)											131	117	122					2																	225368421		2202	4298	6500	SO:0001583	missense	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.1325C>A	2.37:g.225368421G>T	ENSP00000264414:p.Thr442Lys		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.T442K	ENST00000264414.4	37	c.1325	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173162	0.57584	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.67	5.67	0.87782	Cullin, N-terminal (1);Cullin homology (3);	0.044682	0.85682	D	0.000000	T	0.59376	0.2189	N	0.19112	0.55	0.80722	D	1	P;B;B	0.35226	0.491;0.267;0.267	B;B;B	0.33620	0.104;0.167;0.167	T	0.58086	-0.7698	10	0.33141	T	0.24	.	19.7689	0.96353	0.0:0.0:1.0:0.0	.	376;420;442	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	K	442;376;418;418	ENSP00000264414:T442K;ENSP00000343601:T376K;ENSP00000387200:T418K;ENSP00000386525:T418K	ENSP00000264414:T442K	T	-	2	0	CUL3	225076665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.757000	0.62213	2.656000	0.90262	0.650000	0.86243	ACA	CUL3	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000036257		0.313	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2		0	38	0	G			225368421	-1			no_errors	ENST00000264414	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T	T	225368421	G	T	225368421	3	4	85	1	0	0	0	0	1	0	0	0	4065	1377	48	3	1013	3	CUL3	2	225368421	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4938409	225368421	17830952	66	22616											
B3GNT7	93010	genome.wustl.edu	37	chr2	232262814	232262814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctgctgaaccacccggaGaagtgcaggggcgatgtcta	10	7	14	10	2	1	2	0	1	1	1	1	4	1	2	2	3	4	3	2	3	3	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr2:232262814G>C	ENST00000287590.5	+	2	645	c.384G>C	c.(382-384)gaG>gaC	p.E128D	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	128					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ACCACCCGGAGAAGTGCAGGG	0.657																																																	0													25	28	27					2																	232262814		2044	4182	6226	SO:0001583	missense	0			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"Beta 3-glycosyltransferases"	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.384G>C	2.37:g.232262814G>C	ENSP00000287590:p.Glu128Asp		B3KWY4|B7WNP0	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.E128D	ENST00000287590.5	37	c.384	CCDS46540.1	2	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377289	0.61735	.	.	ENSG00000156966	ENST00000287590	T	0.35789	1.29	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.40839	0.1133	L	0.38953	1.18	0.58432	D	0.999999	D	0.64830	0.994	P	0.54629	0.757	T	0.13361	-1.0512	10	0.35671	T	0.21	.	12.9315	0.58290	0.0784:0.0:0.9216:0.0	.	128	Q8NFL0	B3GN7_HUMAN	D	128	ENSP00000287590:E128D	ENSP00000287590:E128D	E	+	3	2	B3GNT7	231971058	1.000000	0.71417	0.999000	0.59377	0.411000	0.31082	3.902000	0.56310	1.221000	0.43506	-0.136000	0.14681	GAG	B3GNT7	-	NULL	ENSG00000156966		0.657	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT7	HGNC	protein_coding	OTTHUMT00000332827.1	-	0	42	0	G	NM_145236		232262814	1	tier1	-	no_errors	ENST00000287590	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	C	C	232262814	G	C	232262814	3	2	85	1	0	0	0	0	1	0	0	0	1263	933	33	5	390	5	B3GNT7	2	232262814	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	6894393	232262814	10936559	67	22617											
CNTN4	152330	genome.wustl.edu	37	chr3	3067916	3067916	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcatttaatggacacctGatagactttgacagagatgg	12	12	11	6	0	1	4	1	2	0	2	1	6	1	5	1	3	0	0	1	3	2	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:3067916G>C	ENST00000397461.1	+	14	2001	c.1617G>C	c.(1615-1617)ctG>ctC	p.L539L	CNTN4_ENST00000427331.1_Silent_p.L539L|CNTN4_ENST00000418658.1_Silent_p.L539L|CNTN4_ENST00000448906.2_Silent_p.L211L|CNTN4_ENST00000358480.3_Silent_p.L320L|CNTN4_ENST00000397459.2_Silent_p.L211L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	539	Ig-like C2-type 6.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATGGACACCTGATAGACTTTG	0.408																																																	0													143	122	129					3																	3067916		2203	4300	6503	SO:0001819	synonymous_variant	0			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1617G>C	3.37:g.3067916G>C			B2RAX3|Q8IX14|Q8TC35	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L539	ENST00000397461.1	37	c.1617	CCDS43041.1	3																																																																																			CNTN4	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144619		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	-	0	59	0	G			3067916	1	tier1	-	no_errors	ENST00000397461	ensembl	human	known	74_37	silent	30.00	35	15	SNP	1.000	C	C	3067916	G	C	3067916	2	2	85	1	0	0	0	0	0	0	0	1	3650	1277	45	5		5	CNTN4	3	3067916	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		3067916	194954514	68	22618											
C3orf24	115795	genome.wustl.edu	37	chr3	10146306	10146306	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actagagtgacctcttgaaaGcacagctgcacttcaaggtc	12	9	9	11	0	2	3	1	2	1	1	3	3	2	3	1	1	3	3	1	1	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:10146306G>T	ENST00000450660.2	-	2	369	c.153C>A	c.(151-153)tgC>tgA	p.C51*	FANCD2OS_ENST00000524279.1_Nonsense_Mutation_p.C51*	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	51																	CCTCTTGAAAGCACAGCTGCA	0.552																																																	0													165	162	163					3																	10146306		2203	4300	6503	SO:0001587	stop_gained	0			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 24"	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.153C>A	3.37:g.10146306G>T	ENSP00000429608:p.Cys51*			Nonsense_Mutation	SNP	NULL	p.C51*	ENST00000450660.2	37	c.153	CCDS2596.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.631950	0.96682	.	.	ENSG00000163705	ENST00000524279;ENST00000453223;ENST00000450660	.	.	.	5.62	1.72	0.24424	.	0.147778	0.47455	D	0.000227	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5224	0.33285	0.3375:0.0:0.6625:0.0	.	.	.	.	X	51;49;51	.	ENSP00000429608:C51X	C	-	3	2	C3orf24	10121306	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.858000	0.27845	0.038000	0.15604	0.558000	0.71614	TGC	FANCD2OS	-	NULL	ENSG00000163705		0.552	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2OS	HGNC	protein_coding	OTTHUMT00000339891.2	-	0	32	0	G	NM_173472		10146306	-1	tier1	-	no_errors	ENST00000450660	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	T	T	10146306	G	T	10146306	4	4	85	1	0	0	0	0	0	1	0	0	2224	963	34	3	384	3	C3orf24	3	10146306	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	7078390	10146306	187876124	69	22619											
C3orf30	152405	genome.wustl.edu	37	chr3	118865478	118865478	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactgctgaacagactgaaCgaagattacctacccaggct	14	7	9	11	1	0	4	0	2	0	2	0	6	0	4	2	1	6	2	2	1	6	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:118865478C>T	ENST00000295622.1	+	1	482	c.442C>T	c.(442-444)Cga>Tga	p.R148*	IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	148										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACAGACTGAACGAAGATTACC	0.498																																																	0													55	52	53					3																	118865478		2203	4300	6503	SO:0001587	stop_gained	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.442C>T	3.37:g.118865478C>T	ENSP00000295622:p.Arg148*		A1L4B7	Nonsense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.R148*	ENST00000295622.1	37	c.442	CCDS2984.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.23|19.23	3.787964|3.787964	0.70337|0.70337	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	.|.	.|.	.|.	3.57|3.57	1.74|1.74	0.24563|0.24563	.|.	1.428600|.	0.05082|.	N|.	0.483620|.	.|T	.|0.39462	.|0.1079	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45396	.|-0.9264	.|3	0.11485|.	T|.	0.65|.	1.5151|1.5151	6.0316|6.0316	0.19683|0.19683	0.1885:0.7058:0.0:0.1058|0.1885:0.7058:0.0:0.1058	.|.	.|.	.|.	.|.	X|M	148|111	.|.	ENSP00000295622:R148X|.	R|T	+|+	1|2	2|0	C3orf30|C3orf30	120348168|120348168	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.079000|0.079000	0.17450|0.17450	0.202000|0.202000	0.17295|0.17295	0.493000|0.493000	0.27837|0.27837	0.563000|0.563000	0.77884|0.77884	CGA|ACG	C3orf30	-	NULL	ENSG00000163424		0.498	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	-	0	25	0	C	NM_152539		118865478	1	tier1	-	no_errors	ENST00000295622	ensembl	human	known	74_37	nonsense	18.75	26	6	SNP	0.000	T	T	118865478	C	T	118865478	4	4	85	1	0	0	0	0	0	1	0	0	2227	528	19	1	444	1	C3orf30	3	118865478	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	108719172	118865478	79156952	70	22620											
CCDC37	348807	genome.wustl.edu	37	chr3	126139001	126139001	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagacgatgcggctggggcgGagcccgtcttacctgagcag	7	6	16	12	4	1	2	0	1	1	1	1	4	1	3	2	4	4	2	2	4	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:126139001G>C	ENST00000352312.1	+	11	1110	c.1011G>C	c.(1009-1011)cgG>cgC	p.R337R	CCDC37_ENST00000505024.1_Silent_p.R338R|CCDC37_ENST00000393425.1_Silent_p.R338R	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	337										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCTGGGGCGGAGCCCGTCTT	0.647																																																	0													23	25	24					3																	126139001		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1011G>C	3.37:g.126139001G>C			D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	superfamily_SuperAg_toxin_C	p.R338	ENST00000352312.1	37	c.1014	CCDS3037.1	3																																																																																			CCDC37	-	NULL	ENSG00000163885		0.647	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	-	0	57	0	G	NM_182628		126139001	1	tier1	-	no_errors	ENST00000393425	ensembl	human	known	74_37	silent	24.05	60	19	SNP	0.000	C	C	126139001	G	C	126139001	2	2	85	1	0	0	0	0	0	0	0	1	2816	1161	41	5		5	CCDC37	3	126139001	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	7273523	126139001	71883429	71	22621											
DZIP1L	199221	genome.wustl.edu	37	chr3	137822572	137822572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaccttgagcagtgccGggtccacaggctgcccacag	8	5	13	15	1	0	1	0	1	0	0	1	1	1	1	4	2	4	4	4	2	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:137822572G>A	ENST00000327532.2	-	2	604	c.242C>T	c.(241-243)cCg>cTg	p.P81L	DZIP1L_ENST00000469243.1_Missense_Mutation_p.P81L	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	81					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GAGCAGTGCCGGGTCCACAGG	0.622																																																	0													33	33	33					3																	137822572		2203	4300	6503	SO:0001583	missense	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"DAZ interacting protein 1-like"			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.242C>T	3.37:g.137822572G>A	ENSP00000332148:p.Pro81Leu		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.P81L	ENST00000327532.2	37	c.242	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104643	0.77096	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706	T;T	0.46819	0.86;0.86	4.83	3.96	0.45880	.	0.177079	0.35870	N	0.002937	T	0.62539	0.2436	L	0.56340	1.77	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65080	-0.6255	10	0.87932	D	0	-12.7787	12.6673	0.56849	0.0815:0.0:0.9185:0.0	.	81;81	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	L	81	ENSP00000332148:P81L;ENSP00000419486:P81L	ENSP00000332148:P81L	P	-	2	0	DZIP1L	139305262	1.000000	0.71417	0.764000	0.31436	0.975000	0.68041	5.807000	0.69157	1.035000	0.39972	0.655000	0.94253	CCG	DZIP1L	-	NULL	ENSG00000158163		0.622	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	-	0	51	0	G	NM_173543		137822572	-1	tier1	-	no_errors	ENST00000327532	ensembl	human	known	74_37	missense	25.00	45	15	SNP	0.989	A	A	137822572	G	A	137822572	3	1	85	1	0	0	0	0	1	0	0	0	4878	1116	39	1	2130	1	DZIP1L	3	137822572	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	11683571	137822572	60199858	72	22622											
CP	1356	genome.wustl.edu	37	chr3	148917609	148917609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctcctttgttatggaagGttactctgatggtgtctccc	6	16	10	9	0	2	1	0	1	2	0	4	2	3	2	2	3	2	3	2	3	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:148917609G>T	ENST00000264613.6	-	8	1653	c.1391C>A	c.(1390-1392)aCc>aAc	p.T464N	CP_ENST00000462336.1_5'Flank	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	464	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTATGGAAGGTTACTCTGAT	0.438																																																	0													169	143	151					3																	148917609		2203	4300	6503	SO:0001583	missense	0			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1391C>A	3.37:g.148917609G>T	ENSP00000264613:p.Thr464Asn		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin	p.T464N	ENST00000264613.6	37	c.1391	CCDS3141.1	3	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887036	0.52014	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99023	-5.34;-5.34	5.79	5.79	0.91817	Cupredoxin (2);	0.111351	0.64402	D	0.000007	D	0.98998	0.9658	L	0.58302	1.8	0.50467	D	0.999874	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.975;0.961;0.975;0.989	D	0.99544	1.0964	10	0.35671	T	0.21	-25.8275	17.8293	0.88676	0.0:0.0:1.0:0.0	.	464;464;464;464	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	N	464;247	ENSP00000264613:T464N;ENSP00000420545:T247N	ENSP00000264613:T464N	T	-	2	0	CP	150400299	1.000000	0.71417	0.985000	0.45067	0.147000	0.21601	2.988000	0.49386	2.739000	0.93911	0.655000	0.94253	ACC	CP	-	superfamily_Cupredoxin	ENSG00000047457		0.438	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CP	HGNC	protein_coding	OTTHUMT00000317498.1	-	0	45	0	G	NM_000096		148917609	-1	tier1	-	no_errors	ENST00000264613	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.996	T	T	148917609	G	T	148917609	3	4	85	1	0	0	0	0	1	0	0	0	3794	1261	44	3	1854	3	CP	3	148917609	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	11095037	148917609	49104821	73	22623											
MED12L	116931	genome.wustl.edu	37	chr3	150877776	150877776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caactcgagtatcggggcccCcagccctggcccccccggcc	5	4	11	21	3	0	0	0	0	0	0	2	1	0	0	7	4	2	1	7	4	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:150877776C>T	ENST00000474524.1	+	7	1033	c.995C>T	c.(994-996)cCc>cTc	p.P332L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.P332L|MED12L_ENST00000422248.2_Missense_Mutation_p.P332L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	332						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCGGGGCCCCCAGCCCTGGC	0.607																																																	0													89	99	96					3																	150877776		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.995C>T	3.37:g.150877776C>T	ENSP00000417235:p.Pro332Leu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P332L	ENST00000474524.1	37	c.995	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899708	0.72754	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.29142	1.58;1.58;1.58	5.41	5.41	0.78517	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.061595	0.64402	D	0.000003	T	0.39989	0.1099	M	0.65975	2.015	0.80722	D	1	B;B;B	0.34329	0.0;0.0;0.449	B;B;B	0.37091	0.005;0.002;0.241	T	0.39187	-0.9626	10	0.87932	D	0	-18.1126	18.813	0.92065	0.0:1.0:0.0:0.0	.	332;332;332	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	L	332	ENSP00000403308:P332L;ENSP00000310760:P332L;ENSP00000417235:P332L	ENSP00000310760:P332L	P	+	2	0	MED12L	152360466	0.895000	0.30542	1.000000	0.80357	0.998000	0.95712	3.400000	0.52594	2.533000	0.85409	0.561000	0.74099	CCC	MED12L	-	pfam_Mediator_Med12_LCEWAV	ENSG00000144893		0.607	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0	33	0	C	NM_053002		150877776	1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	150877776	C	T	150877776	3	4	85	1	0	0	0	0	1	0	0	0	9467	623	22	3	1021	3	MED12L	3	150877776	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1960167	150877776	47144654	74	22624											
KCNMB3	27094	genome.wustl.edu	37	chr3	178960754	178960754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtttgaactgatgctgttCtatataaggtacttttccac	10	16	7	8	0	1	2	0	2	1	0	2	2	2	2	1	1	3	4	1	1	5	8			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:178960754C>G	ENST00000314235.5	-	4	1289	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000392685.2_Missense_Mutation_p.E256Q|KCNMB3_ENST00000486944.1_Intron|KCNMB3_ENST00000485523.1_Missense_Mutation_p.E238Q|KCNMB3_ENST00000349697.2_Missense_Mutation_p.E258Q	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	260					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)		Miconazole(DB01110)|Procaine(DB00721)	TGATGCTGTTCTATATAAGGT	0.418																																																	0													100	96	98					3																	178960754		2203	4300	6503	SO:0001583	missense	0			AF139471	CCDS3225.1, CCDS3226.1, CCDS43172.1, CCDS43173.1, CCDS54683.1	3q26.3-q27	2010-09-30			ENSG00000171121	ENSG00000171121		"Potassium channels"	6287	protein-coding gene	gene with protein product		605222		KCNMB2, KCNMBL		10585773	Standard	NM_001163677		Approved		uc003fjm.3	Q9NPA1	OTTHUMG00000157337	ENST00000314235.5:c.778G>C	3.37:g.178960754C>G	ENSP00000319370:p.Glu260Gln		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.E260Q	ENST00000314235.5	37	c.778	CCDS3226.1	3	.	.	.	.	.	.	.	.	.	.	c	9.539	1.112804	0.20795	.	.	ENSG00000171121	ENST00000392685;ENST00000349697;ENST00000314235;ENST00000485523	T;T;T;T	0.10763	2.84;2.85;2.86;2.86	5.29	1.54	0.23209	.	1.046320	0.07612	N	0.925582	T	0.08802	0.0218	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.34015	0.16;0.078;0.435;0.148	B;B;B;B	0.33521	0.075;0.118;0.165;0.055	T	0.40421	-0.9564	10	0.54805	T	0.06	.	9.09	0.36605	0.0:0.6918:0.0:0.3082	.	258;238;256;260	Q9NPA1-2;Q9NPA1-4;Q9NPA1-3;Q9NPA1	.;.;.;KCMB3_HUMAN	Q	256;258;260;238	ENSP00000376451:E256Q;ENSP00000327866:E258Q;ENSP00000319370:E260Q;ENSP00000418536:E238Q	ENSP00000319370:E260Q	E	-	1	0	KCNMB3	180443448	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.504000	0.22626	0.072000	0.16694	-0.801000	0.03215	GAA	KCNMB3	-	NULL	ENSG00000171121		0.418	KCNMB3-004	KNOWN	basic|CCDS	protein_coding	KCNMB3	HGNC	protein_coding	OTTHUMT00000348484.1	-	0	66	0	C			178960754	-1	tier1	-	no_errors	ENST00000314235	ensembl	human	known	74_37	missense	24.39	62	20	SNP	0.000	G	G	178960754	C	G	178960754	3	3	85	1	0	0	0	0	1	0	0	0	8103	922	32	5	138	5	KCNMB3	3	178960754	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	28082978	178960754	19061676	75	22625											
VPS8	23355	genome.wustl.edu	37	chr3	184711826	184711826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggacttatcttgggaaTgttagatacctttaactatg	11	14	9	7	0	1	1	0	0	1	1	1	3	1	3	2	2	2	1	2	2	6	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:184711826T>A	ENST00000437079.3	+	43	3812	c.3641T>A	c.(3640-3642)aTg>aAg	p.M1214K	VPS8_ENST00000436792.2_Missense_Mutation_p.M1212K|VPS8_ENST00000287546.4_Missense_Mutation_p.M1214K|VPS8_ENST00000446204.2_Missense_Mutation_p.M1122K	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1214							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCTTGGGAATGTTAGATACC	0.299																																																	0													55	52	53					3																	184711826		1804	4057	5861	SO:0001583	missense	0			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3641T>A	3.37:g.184711826T>A	ENSP00000397879:p.Met1214Lys		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M1214K	ENST00000437079.3	37	c.3641	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599318	0.87055	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.30448	1.57;1.57;1.57;1.53	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.57446	0.2054	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.961;0.994;0.997	T	0.61584	-0.7033	10	0.87932	D	0	-4.8177	16.1894	0.81975	0.0:0.0:0.0:1.0	.	1214;1122;1212	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	K	1214;1214;1212;1122	ENSP00000287546:M1214K;ENSP00000397879:M1214K;ENSP00000404704:M1212K;ENSP00000405483:M1122K	ENSP00000287546:M1214K	M	+	2	0	VPS8	186194520	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.216000	0.77974	2.222000	0.72286	0.477000	0.44152	ATG	VPS8	-	NULL	ENSG00000156931		0.299	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		-	0	107	0	T	NM_015303		184711826	1	tier1	-	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	16.67	90	18	SNP	1.000	A	A	184711826	T	A	184711826	3	1	85	1	0	0	0	0	1	0	0	0	17267	1464	51	5	3803	5	VPS8	3	184711826	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	5751072	184711826	13310604	76	22626											
OPA1	4976	genome.wustl.edu	37	chr3	193384092	193384092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaatatttcagttggaatGcaatgatgtggtcttgtttt	9	19	9	4	0	2	1	1	1	1	0	2	2	2	2	0	2	1	3	0	2	4	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:193384092G>A	ENST00000392438.3	+	26	2855	c.2621G>A	c.(2620-2622)tGc>tAc	p.C874Y	OPA1_ENST00000361150.2_Missense_Mutation_p.C875Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C911Y|OPA1_ENST00000361715.2_Missense_Mutation_p.C893Y|OPA1_ENST00000361510.2_Missense_Mutation_p.C929Y|OPA1_ENST00000361828.2_Missense_Mutation_p.C892Y	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	874					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CAGTTGGAATGCAATGATGTG	0.358																																																	0													138	124	129					3																	193384092		2203	4300	6503	SO:0001583	missense	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2621G>A	3.37:g.193384092G>A	ENSP00000376233:p.Cys874Tyr		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.C929Y	ENST00000392438.3	37	c.2786	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716975	0.89205	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.95692	0.8599	M	0.68593	2.085	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.988;0.999;0.988;0.988;0.999;0.988;0.999;0.994	P;D;P;P;D;P;D;P	0.85130	0.803;0.996;0.803;0.803;0.997;0.803;0.996;0.882	D	0.95326	0.8425	10	0.56958	D	0.05	-9.7092	19.0191	0.92906	0.0:0.0:1.0:0.0	.	838;874;856;875;892;911;893;929	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Y	911;874;929;893;892;875;66	ENSP00000354681:C911Y;ENSP00000376233:C874Y;ENSP00000355324:C929Y;ENSP00000355311:C893Y;ENSP00000354429:C892Y;ENSP00000354781:C875Y;ENSP00000398358:C66Y	ENSP00000354781:C875Y	C	+	2	0	OPA1	194866786	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.734000	0.93682	0.555000	0.69702	TGC	OPA1	-	NULL	ENSG00000198836		0.358	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2		0	49	0	G	NM_130837		193384092	1			no_errors	ENST00000361510	ensembl	human	known	74_37	missense	5.17	54	3	SNP	1.000	A	A	193384092	G	A	193384092	3	1	85	1	0	0	0	0	1	0	0	0	10910	1319	46	3	2896	3	OPA1	3	193384092	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	8672266	193384092	4638338	77	22627											
RNF168	165918	genome.wustl.edu	37	chr3	196199528	196199528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcataggggactctattGaagaatctgcaccttgttct	10	13	10	8	0	3	2	0	1	3	1	3	3	3	3	1	3	1	3	1	3	4	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr3:196199528G>A	ENST00000318037.3	-	6	1472	c.878C>T	c.(877-879)tCa>tTa	p.S293L	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	293					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GGACTCTATTGAAGAATCTGC	0.453																																																	0													122	117	119					3																	196199528		2203	4300	6503	SO:0001583	missense	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"RING-type (C3HC4) zinc fingers"	26661	protein-coding gene	gene with protein product		612688	"ring finger protein 168"			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.878C>T	3.37:g.196199528G>A	ENSP00000320898:p.Ser293Leu		Q8NA67|Q96NS4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S293L	ENST00000318037.3	37	c.878	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	G	8.796	0.931707	0.18131	.	.	ENSG00000163961	ENST00000318037	T	0.08008	3.14	5.98	4.13	0.48395	.	0.739812	0.12193	N	0.491011	T	0.08626	0.0214	L	0.47716	1.5	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.41070	-0.9529	10	0.15066	T	0.55	0.6437	9.8464	0.41030	0.1675:0.0:0.8325:0.0	.	293	Q8IYW5	RN168_HUMAN	L	293	ENSP00000320898:S293L	ENSP00000320898:S293L	S	-	2	0	RNF168	197683925	0.001000	0.12720	0.018000	0.16275	0.036000	0.12997	-0.249000	0.08842	0.790000	0.33803	0.591000	0.81541	TCA	RNF168	-	NULL	ENSG00000163961		0.453	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	-	0	16	0	G	NM_152617		196199528	-1	tier1	-	no_errors	ENST00000318037	ensembl	human	known	74_37	missense	50.00	15	15	SNP	0.005	A	A	196199528	G	A	196199528	3	1	85	1	0	0	0	0	1	0	0	0	13504	1294	45	3	841	3	RNF168	3	196199528	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2815436	196199528	1822902	78	22628											
EVC2	132884	genome.wustl.edu	37	chr4	5642402	5642402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcattttccagcaataGaaactgctttttgaaaacag	14	15	5	7	0	1	2	1	1	0	1	2	2	2	2	1	0	4	2	1	0	6	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:5642402G>T	ENST00000344408.5	-	10	1362	c.1309C>A	c.(1309-1311)Cta>Ata	p.L437I	EVC2_ENST00000344938.1_Missense_Mutation_p.L437I|EVC2_ENST00000310917.2_Missense_Mutation_p.L357I	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	437					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L437V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCAGCAATAGAAACTGCTTT	0.428																																																	1	Substitution - Missense(1)	prostate(1)											207	198	201					4																	5642402		2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1309C>A	4.37:g.5642402G>T	ENSP00000342144:p.Leu437Ile		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.L437I	ENST00000344408.5	37	c.1309	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	G	6.245	0.413317	0.11812	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.80994	-1.44;-1.44;-1.44	4.25	2.33	0.28932	.	0.064419	0.64402	D	0.000018	T	0.78413	0.4279	L	0.60455	1.87	0.21220	N	0.999756	P	0.47034	0.889	P	0.46758	0.526	T	0.68554	-0.5378	10	0.41790	T	0.15	-4.3873	9.8567	0.41090	0.0:0.1291:0.6033:0.2677	.	437	Q86UK5	LBN_HUMAN	I	437;357;437	ENSP00000339954:L437I;ENSP00000311683:L357I;ENSP00000342144:L437I	ENSP00000311683:L357I	L	-	1	2	EVC2	5693303	1.000000	0.71417	0.996000	0.52242	0.151000	0.21798	2.153000	0.42282	0.365000	0.24400	-1.378000	0.01179	CTA	EVC2	-	pfam_Limbin	ENSG00000173040		0.428	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0	42	0	G	NM_147127		5642402	-1			no_errors	ENST00000344408	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.548	T	T	5642402	G	T	5642402	3	4	85	1	0	0	0	0	1	0	0	0	5302	933	33	3	2669	3	EVC2	4	5642402	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		5642402	185511874	79	22629											
WFS1	7466	genome.wustl.edu	37	chr4	6293094	6293094	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaggtcaacgagcacGgtgcgaggattcaccctggg	8	6	15	12	4	2	0	2	0	0	0	3	3	2	1	2	5	3	1	2	5	1	1	rs138682654		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:6293094G>A	ENST00000226760.1	+	5	801	c.631G>A	c.(631-633)Gat>Aat	p.D211N	WFS1_ENST00000503569.1_Splice_Site_p.D211N	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	211					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CAACGAGCACGGTGCGAGGAT	0.642																																																	0			GRCh37	CM033824	WFS1	M	rs138682654	G	ASN/ASP,ASN/ASP	0,4402		0,0,2201	66	63	64		631,631	4.7	0.2	4	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice	WFS1	NM_001145853.1,NM_006005.3	23,23	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	211/891,211/891	6293094	1,13001	2201	4300	6501	SO:0001630	splice_region_variant	0			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.631+1G>A	4.37:g.6293094G>A			B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.D211N	ENST00000226760.1	37	c.631	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	G	15.08	2.725876	0.48833	0.0	1.16E-4	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.93906	-3.31;-3.31	4.72	4.72	0.59763	.	0.180905	0.48767	D	0.000171	D	0.88081	0.6341	L	0.36672	1.1	0.51482	D	0.999926	P	0.43633	0.813	B	0.31101	0.124	D	0.89928	0.4064	10	0.62326	D	0.03	-10.0158	16.6615	0.85242	0.0:0.0:1.0:0.0	.	211	O76024	WFS1_HUMAN	N	211	ENSP00000423337:D211N;ENSP00000226760:D211N	ENSP00000226760:D211N	D	+	1	0	WFS1	6343995	1.000000	0.71417	0.222000	0.23844	0.090000	0.18270	4.710000	0.61873	2.175000	0.68902	0.561000	0.74099	GAT	WFS1	-	NULL	ENSG00000109501		0.642	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	-	0	11	0	G		Missense_Mutation	6293094	1	tier1	rs138682654	no_errors	ENST00000226760	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.983	A	A	6293094	G	A	6293094	5	1	85	1	0	0	0	0	0	0	1	0	17409	1130	39	1	645	1	WFS1	4	6293094	Splice_Site	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	650692	6293094	184861182	80	22630											
SH3TC1	54436	genome.wustl.edu	37	chr4	8207065	8207065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggagaaagcggggccCgaggaggccaaggcgccagt	10	2	19	10	3	0	1	0	0	0	1	0	4	0	2	3	6	2	1	3	6	2	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:8207065C>T	ENST00000245105.3	+	2	211	c.144C>T	c.(142-144)ccC>ccT	p.P48P	SH3TC1_ENST00000539824.1_5'UTR|SH3TC1_ENST00000382521.3_Silent_p.P48P	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	48										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGCGGGGCCCGAGGAGGCCA	0.687																																					NSCLC(145;2298 2623 35616 37297)												0													28	30	30					4																	8207065		1989	3919	5908	SO:0001819	synonymous_variant	0			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"Tetratricopeptide (TTC) repeat domain containing"	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.144C>T	4.37:g.8207065C>T			Q4W5G5	Silent	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.P48	ENST00000245105.3	37	c.144	CCDS3399.1	4																																																																																			SH3TC1	-	NULL	ENSG00000125089		0.687	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2		0	54	0	C	NM_018986		8207065	1			no_errors	ENST00000245105	ensembl	human	known	74_37	silent	16.95	49	10	SNP	0.000	T	T	8207065	C	T	8207065	2	4	85	1	0	0	0	0	0	0	0	1	14306	639	23	1		1	SH3TC1	4	8207065	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1913971	8207065	182947211	81	22631											
CLNK	116449	genome.wustl.edu	37	chr4	10492148	10492148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagtgaggtgacactgtttCctgtggaccccagttttatc	7	14	11	9	0	0	3	0	3	0	0	2	4	1	4	3	2	0	2	3	2	1	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:10492148C>T	ENST00000226951.6	-	19	1469	c.1230G>A	c.(1228-1230)agG>agA	p.R410R	CLNK_ENST00000515667.1_Silent_p.R148R	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	410	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GACACTGTTTCCTGTGGACCC	0.438																																					GBM(87;402 1286 6949 13902 35851)												0													118	131	127					4																	10492148		1994	4152	6146	SO:0001819	synonymous_variant	0			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"SH2 domain containing"	17438	protein-coding gene	gene with protein product	"mast cell immunoreceptor signal transducer"	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.1230G>A	4.37:g.10492148C>T			Q05C27|Q9P2U9	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R410	ENST00000226951.6	37	c.1230	CCDS47024.1	4																																																																																			CLNK	-	pfscan_SH2	ENSG00000109684		0.438	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	-	0	65	0	C	NM_052964		10492148	-1	tier1	-	no_errors	ENST00000226951	ensembl	human	known	74_37	silent	27.12	43	16	SNP	0.907	T	T	10492148	C	T	10492148	2	4	85	1	0	0	0	0	0	0	0	1	3554	854	30	3		3	CLNK	4	10492148	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2285083	10492148	180662128	82	22632											
DCAF16	54876	genome.wustl.edu	37	chr4	17805730	17805730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctcactttctgattctGacaagtggtcaggagaggga	9	12	11	9	0	4	3	2	2	2	1	5	5	5	4	1	3	0	0	1	3	1	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:17805730G>A	ENST00000382247.1	-	3	1095	c.35C>T	c.(34-36)tCa>tTa	p.S12L	DCAF16_ENST00000536863.1_Missense_Mutation_p.S12L|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	12					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTCTGATTCTGACAAGTGGTC	0.418																																																	0													46	47	47					4																	17805730		2203	4300	6503	SO:0001583	missense	0			AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.35C>T	4.37:g.17805730G>A	ENSP00000371682:p.Ser12Leu		B3KPB7	Missense_Mutation	SNP	NULL	p.S12L	ENST00000382247.1	37	c.35	CCDS3423.1	4	.	.	.	.	.	.	.	.	.	.	G	4.618	0.114852	0.08831	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.38240	1.15;1.15	4.1	4.1	0.47936	.	.	.	.	.	T	0.21186	0.0510	N	0.08118	0	0.28197	N	0.927492	B	0.22604	0.072	B	0.15052	0.012	T	0.10613	-1.0622	9	0.87932	D	0	-6.1044	12.1217	0.53895	0.0:0.0:1.0:0.0	.	12	Q9NXF7	DCA16_HUMAN	L	12	ENSP00000371682:S12L;ENSP00000445736:S12L	ENSP00000371682:S12L	S	-	2	0	DCAF16	17414828	0.985000	0.35326	0.977000	0.42913	0.027000	0.11550	1.726000	0.38085	2.589000	0.87451	0.561000	0.74099	TCA	DCAF16	-	NULL	ENSG00000163257		0.418	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF16	HGNC	protein_coding	OTTHUMT00000250371.1	-	0	24	0	G	NM_017741		17805730	-1	tier1	-	no_errors	ENST00000382247	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.982	A	A	17805730	G	A	17805730	3	1	85	1	0	0	0	0	1	0	0	0	4277	1294	45	3	619	3	DCAF16	4	17805730	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	7313582	17805730	173348546	83	22633											
AMBN	258	genome.wustl.edu	37	chr4	71467351	71467351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcaggtggcaccatcaGataagccaccaaagcctgag	14	4	11	12	0	1	2	1	1	0	1	1	2	1	2	4	2	4	3	4	2	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:71467351G>A	ENST00000322937.6	+	6	614	c.511G>A	c.(511-513)Gat>Aat	p.D171N	AMBN_ENST00000449493.2_Missense_Mutation_p.D156N	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	171					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GGCACCATCAGATAAGCCACC	0.478											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													81	78	79					4																	71467351		2203	4300	6503	SO:0001583	missense	0			AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"ameloblastin, enamel matrix protein"			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.511G>A	4.37:g.71467351G>A	ENSP00000313809:p.Asp171Asn	1130	Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	pfam_Amelin,smart_Amelin	p.D171N	ENST00000322937.6	37	c.511	CCDS3543.1	4	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622499	0.46840	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.33216	1.42;1.42	5.95	5.1	0.69264	.	0.754765	0.12423	N	0.470205	T	0.29749	0.0743	L	0.40543	1.245	0.09310	N	1	P	0.43231	0.801	B	0.43225	0.412	T	0.15009	-1.0452	10	0.56958	D	0.05	-2.737	10.0735	0.42347	0.0887:0.0:0.9113:0.0	.	171	Q9NP70	AMBN_HUMAN	N	171;171;156	ENSP00000313809:D171N;ENSP00000391234:D156N	ENSP00000313809:D171N	D	+	1	0	AMBN	71501940	0.341000	0.24801	0.999000	0.59377	0.182000	0.23217	2.280000	0.43443	2.826000	0.97356	0.563000	0.77884	GAT	AMBN	-	pfam_Amelin,smart_Amelin	ENSG00000178522		0.478	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBN	HGNC	protein_coding	OTTHUMT00000252165.1	-	0	35	0	G	NM_016519		71467351	1	tier1	-	no_errors	ENST00000322937	ensembl	human	known	74_37	missense	11.94	59	8	SNP	0.148	A	A	71467351	G	A	71467351	3	1	85	1	0	0	0	0	1	0	0	0	563	942	33	3	533	3	AMBN	4	71467351	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	53661621	71467351	119686925	84	22634											
C4orf36	132989	genome.wustl.edu	37	chr4	87809349	87809349	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaccaaatgaaatttCttccaagaaaggcaacttga	18	8	6	9	0	1	4	0	2	1	2	2	4	2	4	3	1	2	1	3	1	6	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:87809349C>A	ENST00000473559.1	-	6	808	c.145G>T	c.(145-147)Gaa>Taa	p.E49*	C4orf36_ENST00000295898.3_Nonsense_Mutation_p.E49*|C4orf36_ENST00000503001.1_5'UTR			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	49										breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		AATGAAATTTCTTCCAAGAAA	0.408																																																	0													95	93	94					4																	87809349		2203	4300	6503	SO:0001587	stop_gained	0			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.145G>T	4.37:g.87809349C>A	ENSP00000420949:p.Glu49*			Nonsense_Mutation	SNP	NULL	p.E49*	ENST00000473559.1	37	c.145	CCDS3615.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.751750	0.98471	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	.	.	.	5.13	4.28	0.50868	.	0.109676	0.41194	D	0.000929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-21.9942	10.8729	0.46894	0.1879:0.8121:0.0:0.0	.	.	.	.	X	49	.	ENSP00000295898:E49X	E	-	1	0	C4orf36	88028373	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.343000	0.52167	1.371000	0.46172	0.591000	0.81541	GAA	C4orf36	-	NULL	ENSG00000163633		0.408	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	-	0	39	0	C	NM_144645		87809349	-1	tier1	-	no_errors	ENST00000295898	ensembl	human	known	74_37	nonsense	25.45	41	14	SNP	1.000	A	A	87809349	C	A	87809349	4	1	85	1	0	0	0	0	0	1	0	0	2273	922	32	3	216	3	C4orf36	4	87809349	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	16341998	87809349	103344927	85	22635											
SMARCAD1	56916	genome.wustl.edu	37	chr4	95199585	95199585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctcagaaatcagcagatGagcaaagcatatatgaaaag	18	8	9	6	0	2	4	2	2	0	2	2	4	2	4	0	0	4	4	0	0	6	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:95199585G>C	ENST00000354268.4	+	17	2168	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E699Q|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E269Q			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	699					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATCAGCAGATGAGCAAAGCAT	0.289																																																	0													39	47	44					4																	95199585		2187	4282	6469	SO:0001583	missense	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2095G>C	4.37:g.95199585G>C	ENSP00000346217:p.Glu699Gln		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E699Q	ENST00000354268.4	37	c.2095	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057045	0.76074	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.24	5.55	5.55	0.83447	SNF2-related (1);	0.000000	0.49916	D	0.000123	D	0.93979	0.8072	L	0.45422	1.42	0.80722	D	1	P;P	0.43352	0.804;0.767	P;P	0.52031	0.688;0.561	D	0.93153	0.6551	10	0.41790	T	0.15	-17.6041	19.4964	0.95075	0.0:0.0:1.0:0.0	.	699;699	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Q	699;699;699;269	ENSP00000351947:E699Q;ENSP00000415576:E699Q;ENSP00000346217:E699Q;ENSP00000423286:E269Q	ENSP00000346217:E699Q	E	+	1	0	SMARCAD1	95418608	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.344000	0.97050	2.616000	0.88540	0.650000	0.86243	GAG	SMARCAD1	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000163104		0.289	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	-	0	46	0	G	NM_020159		95199585	1	tier1	-	no_errors	ENST00000359052	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	C	C	95199585	G	C	95199585	3	2	85	1	0	0	0	0	1	0	0	0	14817	1291	45	5	2157	5	SMARCAD1	4	95199585	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	7390236	95199585	95954691	86	22636											
PDE5A	8654	genome.wustl.edu	37	chr4	120528239	120528239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgagtcagagaggaagctCacagttccctcagaatcctt	11	10	9	11	0	4	3	3	1	1	2	6	5	6	4	2	1	1	2	2	1	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:120528239C>T	ENST00000354960.3	-	2	685	c.366G>A	c.(364-366)gtG>gtA	p.V122V	PDE5A_ENST00000264805.5_Silent_p.V80V|PDE5A_ENST00000394439.1_Silent_p.V70V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	122					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AGAGGAAGCTCACAGTTCCCT	0.483																																																	0													96	92	94					4																	120528239		2203	4300	6503	SO:0001819	synonymous_variant	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.366G>A	4.37:g.120528239C>T			A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.V122	ENST00000354960.3	37	c.366	CCDS3713.1	4																																																																																			PDE5A	-	NULL	ENSG00000138735		0.483	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	-	0	54	0	C	NM_001083		120528239	-1	tier1	-	no_errors	ENST00000354960	ensembl	human	known	74_37	silent	29.69	45	19	SNP	1.000	T	T	120528239	C	T	120528239	2	4	85	1	0	0	0	0	0	0	0	1	11683	813	29	3		3	PDE5A	4	120528239	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	25328654	120528239	70626037	87	22637											
ANXA5	308	genome.wustl.edu	37	chr4	122599640	122599640	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacgtcatcttccaggcttGagccatattctgcaacaaaa	12	10	6	13	1	3	1	1	1	2	0	4	1	4	1	3	1	3	2	3	1	4	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:122599640G>C	ENST00000296511.5	-	7	689	c.404C>G	c.(403-405)tCa>tGa	p.S135*	ANXA5_ENST00000515017.1_Nonsense_Mutation_p.S35*|ANXA5_ENST00000501272.2_Nonsense_Mutation_p.S75*|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	135				S -> L (in Ref. 10; CAG38759). {ECO:0000305}.	blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TTCCAGGCTTGAGCCATATTC	0.393																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)												0													95	93	94					4																	122599640		2203	4300	6503	SO:0001587	stop_gained	0			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.404C>G	4.37:g.122599640G>C	ENSP00000296511:p.Ser135*		D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Nonsense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.S135*	ENST00000296511.5	37	c.404	CCDS3720.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.290065	0.95546	.	.	ENSG00000164111	ENST00000296511;ENST00000512232;ENST00000501272;ENST00000515017	.	.	.	5.03	5.03	0.67393	.	0.618908	0.17610	N	0.168126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.6767	0.62458	0.0:0.1552:0.8448:0.0	.	.	.	.	X	135;135;75;35	.	ENSP00000296511:S135X	S	-	2	0	ANXA5	122819090	0.980000	0.34600	0.983000	0.44433	0.987000	0.75469	2.476000	0.45171	2.345000	0.79718	0.655000	0.94253	TCA	ANXA5	-	pfam_Annexin_repeat,smart_Annexin_repeat,prints_AnnexinIV	ENSG00000164111		0.393	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	-	0	31	0	G	NM_001154		122599640	-1	tier1	-	no_errors	ENST00000296511	ensembl	human	known	74_37	nonsense	24.00	19	6	SNP	0.918	C	C	122599640	G	C	122599640	4	2	85	1	0	0	0	0	0	1	0	0	721	1294	45	5	586	5	ANXA5	4	122599640	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2071401	122599640	68554636	88	22638											
FAT4	79633	genome.wustl.edu	37	chr4	126242132	126242132	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattttggttacagacctCaatgacaatgtcccaatgtt	12	13	6	10	0	1	2	1	1	0	1	2	2	2	2	3	1	1	2	3	1	4	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:126242132C>A	ENST00000394329.3	+	1	4579	c.4566C>A	c.(4564-4566)ctC>ctA	p.L1522L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1522	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTACAGACCTCAATGACAATG	0.433																																																	0													167	153	157					4																	126242132		1949	4149	6098	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4566C>A	4.37:g.126242132C>A			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L1522	ENST00000394329.3	37	c.4566	CCDS3732.3	4																																																																																			FAT4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	18	0	C	NM_024582		126242132	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	19.05	17	4	SNP	1.000	A	A	126242132	C	A	126242132	2	1	85	1	0	0	0	0	0	0	0	1	5714	813	29	3		3	FAT4	4	126242132	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	3642492	126242132	64912144	89	22639											
PCDH10	57575	genome.wustl.edu	37	chr4	134072089	134072089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagagaactctccccCaggcactctcgtgatccagc	9	7	7	18	1	2	2	0	1	2	1	5	3	3	2	5	1	3	1	5	1	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:134072089C>A	ENST00000264360.5	+	1	1620	c.794C>A	c.(793-795)cCa>cAa	p.P265Q	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACTCTCCCCCAGGCACTCTC	0.627																																																	0													89	88	88					4																	134072089		2203	4300	6503	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.794C>A	4.37:g.134072089C>A	ENSP00000264360:p.Pro265Gln		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P265Q	ENST00000264360.5	37	c.794	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	0.718	-0.784617	0.02907	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.41400	1.0	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	0.000000	0.43579	D	0.000548	T	0.53753	0.1816	M	0.69185	2.1	0.41594	D	0.988811	D;B	0.61080	0.989;0.033	P;B	0.55055	0.767;0.102	T	0.52351	-0.8587	10	0.19147	T	0.46	.	16.5992	0.84807	0.0:1.0:0.0:0.0	.	265;265	Q9P2E7;Q96SF0	PCD10_HUMAN;.	Q	265	ENSP00000264360:P265Q	ENSP00000264360:P265Q	P	+	2	0	PCDH10	134291539	0.986000	0.35501	0.871000	0.34182	0.220000	0.24768	3.685000	0.54678	2.202000	0.70862	0.505000	0.49811	CCA	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000138650		0.627	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	35	0	C	NM_032961		134072089	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.982	A	A	134072089	C	A	134072089	3	1	85	1	0	0	0	0	1	0	0	0	11546	594	21	3	796	3	PCDH10	4	134072089	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7829957	134072089	57082187	90	22640											
DCHS2	54798	genome.wustl.edu	37	chr4	155156083	155156083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagaggttggaatttgggctCccaactaagaagataattcc	14	10	10	7	0	0	3	0	0	0	3	2	4	2	4	2	3	1	2	2	3	6	5	rs375321525		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:155156083C>T	ENST00000357232.4	-	25	8355	c.8356G>A	c.(8356-8358)Gag>Aag	p.E2786K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2786					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATTTGGGCTCCCAACTAAGA	0.393																																																	0								C	LYS/GLU	0,4406		0,0,2203	116	116	116		8356	5.9	1	4		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCHS2	NM_017639.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2786/2917	155156083	1,13005	2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.8356G>A	4.37:g.155156083C>T	ENSP00000349768:p.Glu2786Lys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E2786K	ENST00000357232.4	37	c.8356	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173575	0.78452	0.0	1.16E-4	ENSG00000197410	ENST00000357232	T	0.55413	0.52	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.71581	2.175	0.80722	D	1	D	0.53312	0.959	P	0.46076	0.503	T	0.52525	-0.8564	10	0.11794	T	0.64	.	15.4364	0.75149	0.0:0.9321:0.0:0.0679	.	2786	Q6V1P9	PCD23_HUMAN	K	2786	ENSP00000349768:E2786K	ENSP00000349768:E2786K	E	-	1	0	DCHS2	155375533	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.593000	0.46180	2.812000	0.96745	0.557000	0.71058	GAG	DCHS2	-	NULL	ENSG00000197410		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	25	0	C	NM_001142552		155156083	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	52.38	10	11	SNP	1.000	T	T	155156083	C	T	155156083	3	4	85	1	0	0	0	0	1	0	0	0	4297	864	30	3	398	3	DCHS2	4	155156083	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	21083994	155156083	35998193	91	22641											
DCHS2	54798	genome.wustl.edu	37	chr4	155219049	155219049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttatacaggtggtggctGaaggaaatctttacatcttc	10	14	9	8	0	2	1	0	1	2	0	3	2	2	2	1	4	2	1	1	4	5	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:155219049G>A	ENST00000357232.4	-	18	5051	c.5052C>T	c.(5050-5052)ttC>ttT	p.F1684F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1684	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGTGGCTGAAGGAAATCT	0.443																																																	0													79	79	79					4																	155219049		2203	4300	6503	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5052C>T	4.37:g.155219049G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F1684	ENST00000357232.4	37	c.5052	CCDS3785.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like	ENSG00000197410		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	42	0	G	NM_001142552		155219049	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	silent	20.45	35	9	SNP	1.000	A	A	155219049	G	A	155219049	2	1	85	1	0	0	0	0	0	0	0	1	4297	1281	45	3		3	DCHS2	4	155219049	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	62966	155219049	35935227	92	22642											
DCHS2	54798	genome.wustl.edu	37	chr4	155254137	155254137	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggctgtgttcgcgttTctcgataacgactgtcagca	7	12	13	9	4	2	0	1	0	1	0	4	3	2	1	0	2	2	4	0	2	1	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:155254137T>A	ENST00000357232.4	-	9	1725	c.1726A>T	c.(1726-1728)Aaa>Taa	p.K576*	DCHS2_ENST00000507542.1_5'Flank|DCHS2_ENST00000339452.1_Nonsense_Mutation_p.K1075*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	576	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTTCGCGTTTCTCGATAACG	0.582																																																	0													85	86	86					4																	155254137		2203	4300	6503	SO:0001587	stop_gained	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1726A>T	4.37:g.155254137T>A	ENSP00000349768:p.Lys576*		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K576*	ENST00000357232.4	37	c.1726	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	40	8.026017	0.98616	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	.	.	.	5.43	-2.47	0.06442	.	1.233600	0.05866	N	0.623815	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	7.4867	0.27437	0.0:0.3812:0.4026:0.2161	.	.	.	.	X	576;1075;1075	.	ENSP00000345062:K1075X	K	-	1	0	DCHS2	155473587	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.167000	0.16602	-0.560000	0.06102	0.533000	0.62120	AAA	DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.582	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	21	0	T	NM_001142552		155254137	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	nonsense	20.59	27	7	SNP	0.000	A	A	155254137	T	A	155254137	4	1	85	1	0	0	0	0	0	1	0	0	4297	1792	62	5	7188	5	DCHS2	4	155254137	Nonsense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	35088	155254137	35900139	93	22643											
DCHS2	54798	genome.wustl.edu	37	chr4	155410844	155410844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacccacatgactacagtgCcaggggccgcggcctcggac	8	5	13	15	3	0	2	0	2	0	0	1	3	0	3	4	4	2	0	4	4	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:155410844C>A	ENST00000339452.1	-	1	2024	c.1664G>T	c.(1663-1665)gGc>gTc	p.G555V	DCHS2_ENST00000443500.1_Missense_Mutation_p.G555V|DCHS2_ENST00000456341.2_Missense_Mutation_p.G548V	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1700	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACTACAGTGCCAGGGGCCGC	0.617																																																	0													55	64	61					4																	155410844		692	1591	2283	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1664G>T	4.37:g.155410844C>A	ENSP00000345062:p.Gly555Val		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G555V	ENST00000339452.1	37	c.1664	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830281	0.50845	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.70399	1.43;-0.48;-0.48	5.29	5.29	0.74685	.	.	.	.	.	D	0.86707	0.5997	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88515	0.3092	9	0.87932	D	0	.	18.7317	0.91738	0.0:1.0:0.0:0.0	.	555;555	E9PG03;E9PC11	.;.	V	555;555;548;555	ENSP00000345062:G555V;ENSP00000408543:G548V;ENSP00000395539:G555V	ENSP00000345062:G555V	G	-	2	0	DCHS2	155630294	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.869000	0.69613	2.752000	0.94435	0.557000	0.71058	GGC	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000197410		0.617	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0	29	0	C	NM_001142552		155410844	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	A	A	155410844	C	A	155410844	3	1	85	1	0	0	0	0	1	0	0	0	4297	739	26	3	9420	3	DCHS2	4	155410844	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	156707	155410844	35743432	94	22644											
DCHS2	54798	genome.wustl.edu	37	chr4	155411596	155411596	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggcgtcctcgcgcacCgcggcgcggtactcgtcctg	2	7	16	16	8	0	0	0	0	0	0	4	0	2	0	3	4	1	3	3	4	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:155411596C>T	ENST00000339452.1	-	1	1272	c.912G>A	c.(910-912)gcG>gcA	p.A304A	DCHS2_ENST00000443500.1_Silent_p.A304A|DCHS2_ENST00000456341.2_Silent_p.A297A	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1486	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCTCGCGCACCGCGGCGCGGT	0.746																																																	0													3	6	5					4																	155411596		610	1472	2082	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.912G>A	4.37:g.155411596C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A304	ENST00000339452.1	37	c.912	CCDS47150.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197410		0.746	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1		0	15	0	C	NM_001142552		155411596	-1			no_errors	ENST00000339452	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.000	T	T	155411596	C	T	155411596	2	4	85	1	0	0	0	0	0	0	0	1	4297	639	23	1		1	DCHS2	4	155411596	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	752	155411596	35742680	95	22645											
F11	2160	genome.wustl.edu	37	chr4	187208943	187208943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacccataagatgatctgtgCcggctacagggaaggaggga	13	6	14	8	1	1	2	0	1	1	1	1	5	1	5	2	4	3	1	2	4	4	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr4:187208943C>T	ENST00000403665.2	+	14	2034	c.1682C>T	c.(1681-1683)gCc>gTc	p.A561V	F11_ENST00000264692.4_Missense_Mutation_p.A509V|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	561	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	ATGATCTGTGCCGGCTACAGG	0.428																																																	0													125	124	124					4																	187208943		2203	4300	6503	SO:0001583	missense	0			M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"plasma thromboplastin antecedent"	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1682C>T	4.37:g.187208943C>T	ENSP00000384957:p.Ala561Val		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.A561V	ENST00000403665.2	37	c.1682	CCDS3847.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.23|18.23	3.577465|3.577465	0.65878|0.65878	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000264691	D;D|.	0.94966|.	-3.57;-3.57|.	4.77|4.77	4.77|4.77	0.60923|0.60923	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.77471|0.77471	0.4135|0.4135	M|M	0.78344|0.78344	2.41|2.41	0.58432|0.58432	D|D	0.999999|0.999999	P|.	0.35807|.	0.522|.	B|.	0.35770|.	0.21|.	T|T	0.78130|0.78130	-0.2324|-0.2324	10|5	0.87932|.	D|.	0|.	.|.	18.3386|18.3386	0.90297|0.90297	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	561|.	P03951|.	FA11_HUMAN|.	V|S	561;509|95	ENSP00000384957:A561V;ENSP00000264692:A509V|.	ENSP00000264692:A509V|.	A|P	+|+	2|1	0|0	F11|F11	187445937|187445937	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.207000|0.207000	0.24258|0.24258	6.873000|6.873000	0.75541|0.75541	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GCC|CCG	F11	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000088926		0.428	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11	HGNC	protein_coding	OTTHUMT00000317519.4	-	0	45	0	C			187208943	1	tier1	-	no_errors	ENST00000403665	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T	T	187208943	C	T	187208943	3	4	85	1	0	0	0	0	1	0	0	0	5353	739	26	3	1732	3	F11	4	187208943	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	31797347	187208943	3945333	96	22646											
CTNND2	1501	genome.wustl.edu	37	chr5	11082916	11082916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctccacgaggatgggcaGgcctttctcttttcggacag	7	10	12	12	2	1	0	0	0	1	0	4	3	2	2	2	4	1	2	2	4	0	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:11082916G>A	ENST00000304623.8	-	16	2869	c.2680C>T	c.(2680-2682)Ctg>Ttg	p.L894L	CTNND2_ENST00000503622.1_Silent_p.L557L|CTNND2_ENST00000458100.2_Silent_p.L461L|CTNND2_ENST00000511377.1_Silent_p.L803L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.L836L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	894				L -> R (in Ref. 1; AAC63103 and 11; AAB96357). {ECO:0000305}.	cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGATGGGCAGGCCTTTCTCT	0.542																																																	0													95	85	88					5																	11082916		2203	4300	6503	SO:0001819	synonymous_variant	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2680C>T	5.37:g.11082916G>A			B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L894	ENST00000304623.8	37	c.2680	CCDS3881.1	5																																																																																			CTNND2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000169862		0.542	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1		0	41	0	G	NM_001332		11082916	-1			no_errors	ENST00000304623	ensembl	human	known	74_37	silent	6.67	42	3	SNP	1.000	A	A	11082916	G	A	11082916	2	1	85	1	0	0	0	0	0	0	0	1	4029	991	35	3		3	CTNND2	5	11082916	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		11082916	169832344	97	22647											
FBXL7	23194	genome.wustl.edu	37	chr5	15937134	15937134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagcctcaagtcctgcGagagcatcaccggccagggc	8	5	13	15	2	3	1	3	0	0	1	4	2	4	1	4	3	3	2	4	3	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:15937134G>T	ENST00000504595.1	+	4	1796	c.1315G>T	c.(1315-1317)Gag>Tag	p.E439*	FBXL7_ENST00000329673.7_Nonsense_Mutation_p.E427*|FBXL7_ENST00000510662.1_Nonsense_Mutation_p.E392*|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	439					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAAGTCCTGCGAGAGCATCAC	0.617																																																	0													56	60	58					5																	15937134		2069	4219	6288	SO:0001587	stop_gained	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1315G>T	5.37:g.15937134G>T	ENSP00000423630:p.Glu439*		B9EGF1|D6RDY7|O94926	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.E439*	ENST00000504595.1	37	c.1315	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.998259	0.93227	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	19.109	0.93309	0.0:0.0:1.0:0.0	.	.	.	.	X	439;392;427	.	ENSP00000329632:E427X	E	+	1	0	FBXL7	15990134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.511000	0.98006	2.525000	0.85131	0.655000	0.94253	GAG	FBXL7	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000183580		0.617	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	HGNC	protein_coding	OTTHUMT00000366117.1		0	17	0	G	NM_012304		15937134	1			no_errors	ENST00000504595	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	1.000	T	T	15937134	G	T	15937134	4	4	85	1	0	0	0	0	0	1	0	0	5746	1059	37	2	1329	2	FBXL7	5	15937134	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4854218	15937134	164978126	98	22648											
CDH10	1008	genome.wustl.edu	37	chr5	24492981	24492981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctaaactgaaaaaaaaTttctgtccacctaaagggtc	16	9	7	9	0	1	1	0	1	1	0	3	1	2	1	2	1	2	2	2	1	8	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:24492981T>A	ENST00000264463.4	-	10	2076	c.1569A>T	c.(1567-1569)aaA>aaT	p.K523N	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	523	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K523N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGAAAAAAAATTTCTGTCCAC	0.318										HNSCC(23;0.051)																																							1	Substitution - Missense(1)	pancreas(1)											171	185	180					5																	24492981		2203	4297	6500	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1569A>T	5.37:g.24492981T>A	ENSP00000264463:p.Lys523Asn		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.K523N	ENST00000264463.4	37	c.1569	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	T	18.97	3.735924	0.69189	.	.	ENSG00000040731	ENST00000264463	T	0.51325	0.71	4.94	2.56	0.30785	Cadherin (4);Cadherin-like (1);	0.054335	0.64402	D	0.000002	T	0.52468	0.1736	M	0.78637	2.42	0.40025	D	0.975457	P	0.43909	0.821	P	0.47299	0.543	T	0.56366	-0.7991	10	0.62326	D	0.03	.	7.7647	0.28972	0.0:0.1777:0.0:0.8223	.	523	Q9Y6N8	CAD10_HUMAN	N	523	ENSP00000264463:K523N	ENSP00000264463:K523N	K	-	3	2	CDH10	24528738	0.994000	0.37717	1.000000	0.80357	0.982000	0.71751	0.285000	0.18883	0.849000	0.35215	0.477000	0.44152	AAA	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.318	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2		0	23	0	T	NM_006727		24492981	-1			no_errors	ENST00000264463	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	24492981	T	A	24492981	3	1	85	1	0	0	0	0	1	0	0	0	3103	1490	52	5	809	5	CDH10	5	24492981	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	8555847	24492981	156422279	99	22649											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33637836	33637836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttctccagtgcaatatttCcctccaaactttggcctgca	8	14	5	14	0	1	0	0	0	1	0	4	0	3	0	4	1	3	2	4	1	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:33637836C>T	ENST00000504830.1	-	12	2069	c.1734G>A	c.(1732-1734)ggG>ggA	p.G578G	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.G578G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	578	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCAATATTTCCCTCCAAACT	0.463										HNSCC(64;0.19)																																							0													94	88	90					5																	33637836		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1734G>A	5.37:g.33637836C>T			A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G578	ENST00000504830.1	37	c.1734	CCDS34140.1	5																																																																																			ADAMTS12	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000151388		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	81	0	C	NM_030955		33637836	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	silent	10.53	102	12	SNP	0.903	T	T	33637836	C	T	33637836	2	4	85	1	0	0	0	0	0	0	0	1	257	842	30	3		3	ADAMTS12	5	33637836	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	9144855	33637836	147277424	100	22650											
ANKRD55	79722	genome.wustl.edu	37	chr5	55422898	55422898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggacggcccctggtgatgGctcagaatgatggagcacag	10	7	15	9	1	1	3	1	2	0	1	1	5	1	5	2	5	1	2	2	5	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:55422898G>A	ENST00000341048.4	-	8	799	c.648C>T	c.(646-648)agC>agT	p.S216S	RNU6-299P_ENST00000517223.1_RNA|ANKRD55_ENST00000504958.2_Silent_p.S173S|ANKRD55_ENST00000505970.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	216										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCTGGTGATGGCTCAGAATGA	0.463																																																	0													101	98	99					5																	55422898		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.648C>T	5.37:g.55422898G>A			B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S216	ENST00000341048.4	37	c.648	CCDS34161.1	5																																																																																			ANKRD55	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000164512		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	HGNC	protein_coding	OTTHUMT00000368510.4	-	0	40	0	G	NM_024669		55422898	-1	tier1	-	no_errors	ENST00000341048	ensembl	human	known	74_37	silent	8.89	40	4	SNP	1.000	A	A	55422898	G	A	55422898	2	1	85	1	0	0	0	0	0	0	0	1	681	1194	42	3		3	ANKRD55	5	55422898	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	21785062	55422898	125492362	101	22651											
MARVELD2	153562	genome.wustl.edu	37	chr5	68715775	68715775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatactcctacatgaagtCgtgggcaggcctgctgagaa	11	8	13	9	1	0	3	0	2	0	2	2	5	1	3	2	2	3	2	2	2	4	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:68715775C>T	ENST00000325631.5	+	2	637	c.563C>T	c.(562-564)tCg>tTg	p.S188L	MARVELD2_ENST00000413223.2_Missense_Mutation_p.S188L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	188	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TACATGAAGTCGTGGGCAGGC	0.522																																																	0													156	151	153					5																	68715775		2203	4300	6503	SO:0001583	missense	0			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.563C>T	5.37:g.68715775C>T	ENSP00000323264:p.Ser188Leu		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel	p.S188L	ENST00000325631.5	37	c.563	CCDS34175.1	5	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040345	0.93630	.	.	ENSG00000152939	ENST00000325631;ENST00000282886;ENST00000454295;ENST00000512803;ENST00000436532;ENST00000413223	T;T;T;T;T	0.68181	0.33;0.33;0.33;-0.31;-0.31	5.16	5.16	0.70880	Marvel (1);	0.000000	0.85682	D	0.000000	D	0.82912	0.5140	M	0.80183	2.485	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.85557	0.1225	10	0.87932	D	0	-20.7807	17.4129	0.87492	0.0:1.0:0.0:0.0	.	188;188;188	Q8N4S9-3;Q8N4S9-2;Q8N4S9	.;.;MALD2_HUMAN	L	188	ENSP00000323264:S188L;ENSP00000396244:S188L;ENSP00000423490:S188L;ENSP00000414776:S188L;ENSP00000398922:S188L	ENSP00000282886:S188L	S	+	2	0	MARVELD2	68751531	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.699000	0.84547	2.396000	0.81511	0.655000	0.94253	TCG	MARVELD2	-	NULL	ENSG00000152939		0.522	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1		0	43	0	C	NM_144724		68715775	1			no_errors	ENST00000325631	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	68715775	C	T	68715775	3	4	85	1	0	0	0	0	1	0	0	0	9356	893	31	1	565	1	MARVELD2	5	68715775	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	13292877	68715775	112199485	102	22652											
MAP1B	4131	genome.wustl.edu	37	chr5	71493385	71493385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctttacgcagcccGcccctcattggatccgagtc	5	12	8	16	3	2	0	1	0	1	0	5	2	3	1	5	1	2	1	5	1	1	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:71493385G>A	ENST00000296755.7	+	5	4501	c.4203G>A	c.(4201-4203)ccG>ccA	p.P1401P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1401					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P1401P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TACGCAGCCCGCCCCTCATTG	0.478																																					Melanoma(17;367 822 11631 31730 47712)												1	Substitution - coding silent(1)	large_intestine(1)											47	49	48					5																	71493385		2203	4300	6503	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4203G>A	5.37:g.71493385G>A			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.P1401	ENST00000296755.7	37	c.4203	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0	18	0	G	NM_005909		71493385	1			no_errors	ENST00000296755	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.994	A	A	71493385	G	A	71493385	2	1	85	1	0	0	0	0	0	0	0	1	9266	1074	38	1		1	MAP1B	5	71493385	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2777610	71493385	109421875	103	22653											
CMYA5	202333	genome.wustl.edu	37	chr5	79030935	79030935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaaggttattgatgatgCtgatgagggaaagaaaccat	15	10	12	4	0	1	5	1	4	0	1	1	6	1	6	1	2	2	2	1	2	4	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:79030935C>T	ENST00000446378.2	+	2	6378	c.6347C>T	c.(6346-6348)gCt>gTt	p.A2116V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2116					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATTGATGATGCTGATGAGGGA	0.433																																																	0													65	63	64					5																	79030935		1909	4120	6029	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6347C>T	5.37:g.79030935C>T	ENSP00000394770:p.Ala2116Val		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A2116V	ENST00000446378.2	37	c.6347	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	3.535	-0.094881	0.07010	.	.	ENSG00000164309	ENST00000446378	T	0.05025	3.51	5.94	-0.715	0.11215	.	0.765174	0.11503	N	0.557540	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B	0.21905	0.062	B	0.22386	0.039	T	0.45789	-0.9237	10	0.24483	T	0.36	.	3.6302	0.08128	0.3707:0.3133:0.241:0.0751	.	2116	Q8N3K9	CMYA5_HUMAN	V	2116	ENSP00000394770:A2116V	ENSP00000394770:A2116V	A	+	2	0	CMYA5	79066691	0.002000	0.14202	0.000000	0.03702	0.038000	0.13279	0.318000	0.19504	-0.139000	0.11414	0.650000	0.86243	GCT	CMYA5	-	NULL	ENSG00000164309		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	37	0	C	NM_153610		79030935	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	T	T	79030935	C	T	79030935	3	4	85	1	0	0	0	0	1	0	0	0	3597	797	28	3	6353	3	CMYA5	5	79030935	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7537550	79030935	101884325	104	22654											
LIX1	167410	genome.wustl.edu	37	chr5	96460290	96460290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaatgcagccttctgctgCtgcttgctttcccaaaattc	7	13	9	12	0	1	0	0	0	1	0	3	1	2	1	2	1	6	5	2	1	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:96460290C>T	ENST00000274382.4	-	2	421	c.126G>A	c.(124-126)caG>caA	p.Q42Q	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	42										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CCTTCTGCTGCTGCTTGCTTT	0.478																																																	0													104	88	93					5																	96460290		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"chromosome 5 open reading frame 11", "Lix1 homolog (mouse)"	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.126G>A	5.37:g.96460290C>T			A8K4R9|Q8N7I2	Silent	SNP	NULL	p.Q42	ENST00000274382.4	37	c.126	CCDS4088.1	5																																																																																			LIX1	-	NULL	ENSG00000145721		0.478	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIX1	HGNC	protein_coding	OTTHUMT00000250625.1		0	43	0	C	NM_153234		96460290	-1			no_errors	ENST00000274382	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	96460290	C	T	96460290	2	4	85	1	0	0	0	0	0	0	0	1	8861	796	28	3		3	LIX1	5	96460290	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	17429355	96460290	84454970	105	22655											
ADAMTS19	171019	genome.wustl.edu	37	chr5	128983525	128983525	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccggagagtggagccTgtggagtccttgtagccgaa	7	9	16	9	2	1	1	0	0	1	1	2	5	2	3	4	4	2	1	4	4	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:128983525T>A	ENST00000274487.4	+	12	2067	c.1922T>A	c.(1921-1923)cTg>cAg	p.L641Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	641	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GAGTGGAGCCTGTGGAGTCCT	0.517																																																	0													145	144	145					5																	128983525		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1922T>A	5.37:g.128983525T>A	ENSP00000274487:p.Leu641Gln			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L641Q	ENST00000274487.4	37	c.1922	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	T	5.056	0.195999	0.09599	.	.	ENSG00000145808	ENST00000274487	T	0.52295	0.67	4.52	-1.17	0.09648	.	1.745050	0.03009	N	0.149168	T	0.26304	0.0642	N	0.05554	-0.025	0.09310	N	1	B	0.18166	0.026	B	0.13407	0.009	T	0.12319	-1.0552	9	.	.	.	.	6.6209	0.22802	0.13:0.4705:0.0:0.3995	.	641	Q8TE59	ATS19_HUMAN	Q	641	ENSP00000274487:L641Q	.	L	+	2	0	ADAMTS19	129011424	0.000000	0.05858	0.027000	0.17364	0.997000	0.91878	-0.168000	0.09925	-0.152000	0.11156	0.528000	0.53228	CTG	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.517	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2		0	37	0	T	NM_133638		128983525	1			no_errors	ENST00000274487	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.001	A	A	128983525	T	A	128983525	3	1	85	1	0	0	0	0	1	0	0	0	264	1580	55	5	1968	5	ADAMTS19	5	128983525	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	32523235	128983525	51931735	106	22656											
ADAMTS19	171019	genome.wustl.edu	37	chr5	129019948	129019948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacaagctgggaagattgcGatgccacttgtggaggaggt	11	8	15	7	1	0	1	0	0	0	1	0	5	0	4	1	4	3	1	1	4	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:129019948G>A	ENST00000274487.4	+	18	2927	c.2782G>A	c.(2782-2784)Gat>Aat	p.D928N	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	928	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D928N(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGAAGATTGCGATGCCACTTG	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											78	74	75					5																	129019948		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"ADAM metallopeptidases with thrombospondin type 1 motif"	17111	protein-coding gene	gene with protein product		607513	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2782G>A	5.37:g.129019948G>A	ENSP00000274487:p.Asp928Asn			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.D928N	ENST00000274487.4	37	c.2782	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028928	0.35797	.	.	ENSG00000145808	ENST00000274487	T	0.60920	0.15	4.56	2.77	0.32553	.	0.227351	0.37393	N	0.002109	T	0.36853	0.0982	N	0.17082	0.46	0.34979	D	0.753911	B	0.14438	0.01	B	0.06405	0.002	T	0.36040	-0.9764	9	.	.	.	.	10.9237	0.47180	0.1578:0.0:0.8422:0.0	.	928	Q8TE59	ATS19_HUMAN	N	928	ENSP00000274487:D928N	.	D	+	1	0	ADAMTS19	129047847	0.960000	0.32886	0.934000	0.37439	0.982000	0.71751	1.628000	0.37060	0.839000	0.34971	-0.143000	0.13931	GAT	ADAMTS19	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.403	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0	27	0	G	NM_133638		129019948	1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.994	A	A	129019948	G	A	129019948	3	1	85	1	0	0	0	0	1	0	0	0	264	1058	37	1	2852	1	ADAMTS19	5	129019948	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	36423	129019948	51895312	107	22657											
HNRNPA0	10949	genome.wustl.edu	37	chr5	137088929	137088931	+	In_Frame_Del	DEL	CCG	CCG	-																															cgccccagctactgcctccaCcgccgccgccgccgccgctc																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	CCG	CCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:137088929_137088931delCCG	ENST00000314940.4	-	1	1108_1110	c.825_827delCGG	c.(823-828)ggcggt>ggt	p.275_276GG>G		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	275	Gly-rich.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)	p.G275G(1)		large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTgcctccaccgccgccgccgc	0.626																																																	1	Substitution - coding silent(1)	large_intestine(1)								24,2808		2,20,1394							0			12	72,5960		7,58,2951	no	coding	HNRNPA0	NM_006805.3		9,78,4345	A1A1,A1R,RR		1.1936,0.8475,1.083				96,8768				SO:0001651	inframe_deletion	0			U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"RNA binding motif (RRM) containing"	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.825_827delCGG	5.37:g.137088938_137088940delCCG	ENSP00000316042:p.Gly278del		Q6IB18	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G278in_frame_del	ENST00000314940.4	37	c.827_825	CCDS4193.1	5																																																																																			HNRNPA0	-	NULL	ENSG00000177733		0.626	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA0	HGNC	protein_coding	OTTHUMT00000251221.1		0	25	0	CCG	NM_006805		137088931	-1	tier1		no_errors	ENST00000314940	ensembl	human	known	74_37	in_frame_del	9.09	20	2	DEL	0.372:0.361:0.351	-	-	137088931	CCG	-	137088929	7	5	85	1	0	1	0	1	0	0	0	0	7283	507	18	0	94	0	HNRNPA0	5	137088929	In_Frame_Del	DEL	CCG	TCGA-L5-A8NK-01A-21D-A37C-09	8068981	137088929	43826331	108	22658											
PURA	5813	genome.wustl.edu	37	chr5	139494603	139494603	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtactcggaggagatgaaGaagattcaagagaagcagag	18	5	14	4	1	1	6	1	1	0	5	2	9	1	7	0	2	2	2	0	2	6	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:139494603G>A	ENST00000331327.3	+	1	896	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	279					DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGATGAAGAAGATTCAAG	0.587																																																	0													56	55	55					5																	139494603		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.837G>A	5.37:g.139494603G>A				Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.K279	ENST00000331327.3	37	c.837	CCDS4220.1	5																																																																																			PURA	-	smart_PUR_DNA_RNA-bd	ENSG00000185129		0.587	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PURA	HGNC	protein_coding	OTTHUMT00000251341.3	-	0	31	0	G	NM_005859		139494603	1	tier1	-	no_errors	ENST00000331327	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	A	A	139494603	G	A	139494603	2	1	85	1	0	0	0	0	0	0	0	1	12872	933	33	3		3	PURA	5	139494603	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2405674	139494603	41420657	109	22659											
PCDHA7	56141	genome.wustl.edu	37	chr5	140214165	140214165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgcgcctgttccgggCggtgtgcaaattccgtgggg	3	9	18	11	5	0	0	0	0	0	0	2	0	2	0	4	5	2	2	4	5	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:140214165C>T	ENST00000525929.1	+	1	197	c.197C>T	c.(196-198)gCg>gTg	p.A66V	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	66	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTTCCGGGCGGTGTGCAAA	0.617																																					NSCLC(160;258 2013 5070 22440 28951)												0													84	102	96					5																	140214165		2203	4300	6503	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.197C>T	5.37:g.140214165C>T	ENSP00000436426:p.Ala66Val		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A66V	ENST00000525929.1	37	c.197	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605859	0.00842	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.19938	2.11;2.11	4.17	0.291	0.15732	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.00226	-1.805	0.22511	N	0.999038	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.40776	-0.9545	9	0.02654	T	1	.	10.1587	0.42838	0.0:0.1593:0.0:0.8407	.	66;66	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	66	ENSP00000436426:A66V;ENSP00000367365:A66V	ENSP00000367365:A66V	A	+	2	0	PCDHA7	140194349	0.300000	0.24435	0.998000	0.56505	0.148000	0.21650	3.486000	0.53215	0.121000	0.18284	-1.817000	0.00601	GCG	PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000204963		0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	129	0	C	NM_018910		140214165	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	17.04	112	23	SNP	0.996	T	T	140214165	C	T	140214165	3	4	85	1	0	0	0	0	1	0	0	0	11568	768	27	1	199	1	PCDHA7	5	140214165	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	719562	140214165	40701095	110	22660											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347393	140347393	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccagtgcccatggcaggtCactgcaaggtgctggtggac	7	8	15	11	0	1	0	1	0	0	0	2	1	2	1	2	5	3	3	2	5	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:140347393C>G	ENST00000289269.5	+	1	1574	c.1042C>G	c.(1042-1044)Cac>Gac	p.H348D	PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	348	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGGCAGGTCACTGCAAGGT	0.582																																					Melanoma(190;638 2083 3390 11909 52360)												0													61	54	57					5																	140347393		2203	4300	6503	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1042C>G	5.37:g.140347393C>G	ENSP00000289269:p.His348Asp		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H348D	ENST00000289269.5	37	c.1042	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029882	0.54790	.	.	ENSG00000243232	ENST00000289269	T	0.50548	0.74	5.87	5.0	0.66597	Cadherin (5);Cadherin-like (1);	0.000000	0.44285	D	0.000466	T	0.63510	0.2517	M	0.68728	2.09	0.54753	D	0.999984	P;D	0.63880	0.915;0.993	P;P	0.60236	0.614;0.871	T	0.67887	-0.5554	10	0.72032	D	0.01	.	14.7371	0.69424	0.0:0.9309:0.0:0.0691	.	348;348	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	D	348	ENSP00000289269:H348D	ENSP00000289269:H348D	H	+	1	0	PCDHAC2	140327577	0.978000	0.34361	0.999000	0.59377	0.998000	0.95712	2.407000	0.44565	1.486000	0.48398	0.655000	0.94253	CAC	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000243232		0.582	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	-	0	38	0	C	NM_018899		140347393	1	tier1	-	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	140347393	C	G	140347393	3	3	85	1	0	0	0	0	1	0	0	0	11572	826	29	5	1044	5	PCDHAC2	5	140347393	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	133228	140347393	40567867	111	22661											
TCOF1	6949	genome.wustl.edu	37	chr5	149755735	149755735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtcgcccctgtgcgagtgGgcacccaagccccccggaaa	8	4	13	16	3	0	0	0	0	0	0	1	2	0	1	6	3	2	1	6	3	2	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:149755735G>T	ENST00000504761.2	+	13	1984	c.1984G>T	c.(1984-1986)Ggc>Tgc	p.G662C	TCOF1_ENST00000394269.3_Missense_Mutation_p.G662C|TCOF1_ENST00000513346.1_Missense_Mutation_p.G662C|TCOF1_ENST00000439160.2_Missense_Mutation_p.G662C|TCOF1_ENST00000445265.2_Missense_Mutation_p.G585C|TCOF1_ENST00000451292.1_Missense_Mutation_p.G662C|TCOF1_ENST00000323668.7_Missense_Mutation_p.G585C|TCOF1_ENST00000377797.3_Missense_Mutation_p.G662C			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	662					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGCGAGTGGGCACCCAAGC	0.592																																																	0													114	129	124					5																	149755735		2203	4300	6503	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1984G>T	5.37:g.149755735G>T	ENSP00000421655:p.Gly662Cys		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.G662C	ENST00000504761.2	37	c.1984	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628028	0.46944	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.79	-0.976	0.10286	Treacher Collins syndrome, treacle (1);	0.168005	0.28821	N	0.014039	T	0.75125	0.3807	M	0.80422	2.495	0.09310	N	1	D;D;D;D;D;D;D	0.89917	0.999;0.997;0.997;0.997;1.0;0.997;0.997	D;D;D;D;D;D;D	0.85130	0.969;0.912;0.912;0.912;0.997;0.912;0.912	T	0.62946	-0.6746	10	0.62326	D	0.03	-6.5249	3.2147	0.06695	0.4063:0.0:0.3679:0.2258	.	171;662;585;662;662;585;662	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	C	662;662;585;585;662;662;662;662;662	ENSP00000400939:G662C;ENSP00000367028:G662C;ENSP00000409944:G585C;ENSP00000325223:G585C;ENSP00000406888:G662C;ENSP00000377811:G662C;ENSP00000390717:G662C;ENSP00000421655:G662C;ENSP00000427484:G662C	ENSP00000325223:G585C	G	+	1	0	TCOF1	149735928	0.975000	0.34042	0.001000	0.08648	0.008000	0.06430	1.287000	0.33284	0.022000	0.15160	0.561000	0.74099	GGC	TCOF1	-	pfam_TCS_treacle	ENSG00000070814		0.592	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	-	0	18	0	G	NM_001008656		149755735	1	tier1	-	no_errors	ENST00000451292	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.002	T	T	149755735	G	T	149755735	3	4	85	1	0	0	0	0	1	0	0	0	15755	1232	43	3	2034	3	TCOF1	5	149755735	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	9408342	149755735	31159525	112	22662											
COL23A1	91522	genome.wustl.edu	37	chr5	177733909	177733909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccaggcttgccgcgccGtccagggggccctagacagg	5	6	14	16	3	1	1	0	0	1	1	3	1	2	1	5	4	1	1	5	4	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:177733909G>A	ENST00000390654.3	-	3	730	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	COL23A1_ENST00000407622.1_Missense_Mutation_p.R98W	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	125	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTGCCGCGCCGTCCAGGGGGC	0.617																																																	0													20	25	23					5																	177733909		1945	4113	6058	SO:0001583	missense	0			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"Collagens"	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.373C>T	5.37:g.177733909G>A	ENSP00000375069:p.Arg125Trp		Q8IVR4|Q9NT93	Missense_Mutation	SNP	pfam_Collagen	p.R125W	ENST00000390654.3	37	c.373	CCDS4436.1	5	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722372	0.48728	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.93659	-3.26;-3.26	3.2	3.2	0.36748	.	0.355912	0.20906	N	0.083543	D	0.95652	0.8586	M	0.73962	2.25	0.33908	D	0.63932	D	0.89917	1.0	D	0.83275	0.996	D	0.96519	0.9384	10	0.72032	D	0.01	-3.8587	10.2279	0.43236	0.0:0.0:1.0:0.0	.	125	Q86Y22	CONA1_HUMAN	W	125;98	ENSP00000375069:R125W;ENSP00000385092:R98W	ENSP00000375069:R125W	R	-	1	2	COL23A1	177666515	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.974000	0.29436	2.119000	0.64992	0.478000	0.44815	CGG	COL23A1	-	pfam_Collagen	ENSG00000050767		0.617	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	HGNC	protein_coding	OTTHUMT00000253475.1	-	0	62	0	G	NM_173465		177733909	-1	tier1	-	no_errors	ENST00000390654	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	A	A	177733909	G	A	177733909	3	1	85	1	0	0	0	0	1	0	0	0	3689	1144	40	1	1357	1	COL23A1	5	177733909	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	27978174	177733909	3181351	113	22663											
ZNF354C	30832	genome.wustl.edu	37	chr5	178506461	178506461	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaactgtagagcaaaacTtcacaggcatcaaagaatcc	16	8	6	11	0	3	2	3	0	0	2	4	2	4	2	1	1	3	3	1	1	6	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr5:178506461T>A	ENST00000315475.6	+	5	1334	c.1028T>A	c.(1027-1029)cTt>cAt	p.L343H		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	343					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AGAGCAAAACTTCACAGGCAT	0.438																																																	0													157	169	165					5																	178506461		2203	4300	6503	SO:0001583	missense	0				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"Zinc fingers, C2H2-type", "-"	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1028T>A	5.37:g.178506461T>A	ENSP00000324064:p.Leu343His		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L343H	ENST00000315475.6	37	c.1028	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116879	0.56505	.	.	ENSG00000177932	ENST00000315475	T	0.16196	2.36	4.04	4.04	0.47022	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.53690	0.1812	H	0.96239	3.79	0.09310	N	0.999994	D	0.89917	1.0	D	0.85130	0.997	T	0.54009	-0.8357	9	0.87932	D	0	-14.1537	11.2691	0.49127	0.0:0.0:0.0:1.0	.	343	Q86Y25	Z354C_HUMAN	H	343	ENSP00000324064:L343H	ENSP00000324064:L343H	L	+	2	0	ZNF354C	178439067	0.998000	0.40836	0.907000	0.35723	0.977000	0.68977	7.311000	0.78958	1.808000	0.52836	0.482000	0.46254	CTT	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000177932		0.438	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	-	0	34	0	T			178506461	1	tier1	-	no_errors	ENST00000315475	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.152	A	A	178506461	T	A	178506461	3	1	85	1	0	0	0	0	1	0	0	0	17914	1609	56	5	1042	5	ZNF354C	5	178506461	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	772552	178506461	2408799	114	22664											
BMP6	654	genome.wustl.edu	37	chr6	7880445	7880445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggttcaccttatgaaccccGagtatgtccccaaaccgtgc	10	9	8	14	2	1	1	1	1	0	0	2	2	2	1	6	1	3	2	6	1	4	3	rs368529770		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:7880445G>C	ENST00000283147.6	+	7	1570	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	471					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TATGAACCCCGAGTATGTCCC	0.443																																																	0													183	193	190					6																	7880445		2203	4300	6503	SO:0001583	missense	0			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.1411G>C	6.37:g.7880445G>C	ENSP00000283147:p.Glu471Gln		Q5TCP3	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.E471Q	ENST00000283147.6	37	c.1411	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	31	5.065308	0.93898	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	D	0.84223	-1.82	5.65	5.65	0.86999	Transforming growth factor-beta, C-terminal (3);	0.156215	0.64402	D	0.000016	D	0.82921	0.5142	N	0.20574	0.59	0.80722	D	1	D	0.61080	0.989	P	0.57846	0.828	D	0.85497	0.1189	10	0.62326	D	0.03	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	471	P22004	BMP6_HUMAN	Q	393;471;434	ENSP00000283147:E471Q	ENSP00000283147:E471Q	E	+	1	0	BMP6	7825444	1.000000	0.71417	0.984000	0.44739	0.981000	0.71138	9.472000	0.97709	2.659000	0.90383	0.655000	0.94253	GAG	BMP6	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000153162		0.443	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1	-	0	68	0	G	NM_001718		7880445	1	tier1	-	no_errors	ENST00000283147	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	C	C	7880445	G	C	7880445	3	2	85	1	0	0	0	0	1	0	0	0	1466	1059	37	5	1437	5	BMP6	6	7880445	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		7880445	163234622	115	22665											
KDM1B	221656	genome.wustl.edu	37	chr6	18160169	18160169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaaaagcatcttttGatcattctccggatagcctt	14	12	6	9	1	3	2	1	1	2	1	4	3	3	3	2	1	2	1	2	1	5	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:18160169G>T	ENST00000297792.5	+	3	220	c.43G>T	c.(43-45)Gat>Tat	p.D15Y	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Missense_Mutation_p.D15Y|KDM1B_ENST00000397244.1_Missense_Mutation_p.D15Y			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	15					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGCATCTTTTGATCATTCTCC	0.378																																																	0													81	72	75					6																	18160169		2203	4300	6503	SO:0001583	missense	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"Chromatin-modifying enzymes / K-demethylases"	21577	protein-coding gene	gene with protein product		613081	"amine oxidase, flavin containing 1", "chromosome 6 open reading frame 193", "amine oxidase (flavin containing) domain 1"	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.43G>T	6.37:g.18160169G>T	ENSP00000297792:p.Asp15Tyr		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.D15Y	ENST00000297792.5	37	c.43	CCDS34343.1	6	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808006	0.70797	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.34859	1.39;1.34;1.34	4.75	4.75	0.60458	.	1.143330	0.06393	N	0.717380	T	0.31104	0.0786	L	0.36672	1.1	0.80722	D	1	P	0.46395	0.877	P	0.47626	0.552	T	0.19549	-1.0302	10	0.72032	D	0.01	-8.5885	16.3056	0.82846	0.0:0.0:1.0:0.0	.	15	A2A2C6	.	Y	15	ENSP00000373522:D15Y;ENSP00000380419:D15Y;ENSP00000297792:D15Y	ENSP00000297792:D15Y	D	+	1	0	KDM1B	18268148	1.000000	0.71417	0.995000	0.50966	0.912000	0.54170	5.805000	0.69143	2.335000	0.79485	0.557000	0.71058	GAT	KDM1B	-	NULL	ENSG00000165097		0.378	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	-	0	42	0	G	NM_153042		18160169	1	tier1	-	no_errors	ENST00000388870	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	18160169	G	T	18160169	3	4	85	1	0	0	0	0	1	0	0	0	8150	1290	45	3	45	3	KDM1B	6	18160169	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	10279724	18160169	152954898	116	22666											
HIST1H2BB	3018	genome.wustl.edu	37	chr6	26043872	26043872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggctggagcagacttaGagggttcaggcattgctatt	9	11	15	6	0	1	2	1	0	0	2	1	3	1	3	0	5	2	5	0	5	3	6	rs372198960		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:26043872G>T	ENST00000357905.2	-	1	13	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	5					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGCAGACTTAGAGGGTTCAGG	0.453																																																	0													57	58	58					6																	26043872		2203	4300	6503	SO:0001583	missense	0			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"Histones / Replication-dependent"	4751	protein-coding gene	gene with protein product		602803	"H2B histone family, member F", "histone 1, H2bb"	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.14C>A	6.37:g.26043872G>T	ENSP00000350580:p.Ser5Tyr		Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S5Y	ENST00000357905.2	37	c.14	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	G	9.326	1.059379	0.19987	.	.	ENSG00000196226	ENST00000357905	T	0.18502	2.21	5.24	4.36	0.52297	Histone-fold (2);	0.097441	0.38326	U	0.001739	T	0.05090	0.0136	N	0.16478	0.41	0.27427	N	0.95414	B	0.26876	0.162	B	0.27887	0.084	T	0.24261	-1.0165	10	0.87932	D	0	.	14.4896	0.67642	0.0:0.0:0.8518:0.1482	.	5	P33778	H2B1B_HUMAN	Y	5	ENSP00000350580:S5Y	ENSP00000350580:S5Y	S	-	2	0	HIST1H2BB	26151851	0.868000	0.29978	0.004000	0.12327	0.005000	0.04900	4.262000	0.58847	1.293000	0.44690	-0.293000	0.09583	TCT	HIST1H2BB	-	superfamily_Histone-fold	ENSG00000196226		0.453	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	HGNC	protein_coding	OTTHUMT00000040083.1	-	0	42	0	G	NM_021062		26043872	-1	tier1	-	no_errors	ENST00000357905	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.590	T	T	26043872	G	T	26043872	3	4	85	1	0	0	0	0	1	0	0	0	7168	942	33	3	370	3	HIST1H2BB	6	26043872	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	7883703	26043872	145071195	117	22667											
HIST1H3E	8353	genome.wustl.edu	37	chr6	26225496	26225496	+	Frame_Shift_Del	DEL	G	G	-																															gccacgggcggcgtgaagaaGccccatcgctaccgccctgg																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:26225496delG	ENST00000360408.1	+	1	114	c.114delG	c.(112-114)aagfs	p.K38fs		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	38					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCGTGAAGAAGCCCCATCGCT	0.637																																																	0													51	52	52					6																	26225496		2203	4300	6503	SO:0001589	frameshift_variant	0			M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"Histones / Replication-dependent"	4769	protein-coding gene	gene with protein product		602813	"H3 histone family, member D", "histone 1, H3e"	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.114delG	6.37:g.26225496delG	ENSP00000353581:p.Lys38fs		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Frame_Shift_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.K38fs	ENST00000360408.1	37	c.114	CCDS4596.1	6																																																																																			HIST1H3E	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000196966		0.637	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3E	HGNC	protein_coding	OTTHUMT00000040097.1		0	94	0	G	NM_003532		26225496	1	tier1		no_errors	ENST00000360408	ensembl	human	known	74_37	frame_shift_del	12.99	67	10	DEL	1.000	-	-	26225496	G	-	26225496	7	5	85	1	0	1	0	1	0	0	0	0	7186	962	34	0	116	0	HIST1H3E	6	26225496	Frame_Shift_Del	DEL	G	TCGA-L5-A8NK-01A-21D-A37C-09	181624	26225496	144889571	118	22668											
HMGN4	10473	genome.wustl.edu	37	chr6	26545537	26545537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctgctaaaccagctcctCcaaaaccagagcccaggcct	11	7	7	16	0	1	1	0	0	1	1	3	1	3	1	6	1	5	2	6	1	4	1	rs146576097		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:26545537C>T	ENST00000377575.2	+	2	280	c.103C>T	c.(103-105)Cca>Tca	p.P35S		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	35						chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)			lung(2)|skin(1)	3						ACCAGCTCCTCCAAAACCAGA	0.502																																																	0								C	SER/PRO	0,4406		0,0,2203	77	71	73		103	1.6	0.5	6	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMGN4	NM_006353.2	74	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	35/91	26545537	1,13005	2203	4300	6503	SO:0001583	missense	0			U90549	CCDS4615.1	6p21.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000182952	ENSG00000182952		"High-mobility group / Canonical"	4989	protein-coding gene	gene with protein product			"high-mobility group (nonhistone chromosomal) protein 17-like 3"	HMG17L3		9149941, 11410162	Standard	NM_006353		Approved	NHC	uc003nig.3	O00479	OTTHUMG00000014458	ENST00000377575.2:c.103C>T	6.37:g.26545537C>T	ENSP00000366798:p.Pro35Ser		B2R4I6|Q53XL9	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.P35S	ENST00000377575.2	37	c.103	CCDS4615.1	6	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881672	0.51908	0.0	1.16E-4	ENSG00000182952	ENST00000328219;ENST00000377575	.	.	.	3.45	1.56	0.23342	.	0.086868	0.45867	D	0.000321	T	0.20700	0.0498	.	.	.	0.35480	D	0.798042	B	0.26672	0.156	B	0.24394	0.053	T	0.03221	-1.1059	8	0.51188	T	0.08	-2.4565	5.5618	0.17148	0.1976:0.6889:0.0:0.1134	.	35	O00479	HMGN4_HUMAN	S	35	.	ENSP00000327691:P35S	P	+	1	0	HMGN4	26653516	0.949000	0.32298	0.456000	0.27044	0.805000	0.45488	2.057000	0.41365	0.395000	0.25257	0.561000	0.74099	CCA	HMGN4	-	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	ENSG00000182952		0.502	HMGN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN4	HGNC	protein_coding	OTTHUMT00000040123.2	-	0	34	0	C			26545537	1	tier1	rs146576097	no_errors	ENST00000377575	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.989	T	T	26545537	C	T	26545537	3	4	85	1	0	0	0	0	1	0	0	0	7264	855	30	3	105	3	HMGN4	6	26545537	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	320041	26545537	144569530	119	22669											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834849	27834849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccttcttcggagtcttCttcactgcctttttcgcccc	2	17	6	16	3	4	0	1	0	3	0	7	1	4	1	4	1	1	0	4	1	0	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:27834849C>A	ENST00000331442.3	-	1	510	c.459G>T	c.(457-459)aaG>aaT	p.K153N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	153					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TCGGAGTCTTCTTCACTGCCT	0.602																																																	0													93	107	103					6																	27834849		2203	4299	6502	SO:0001583	missense	0			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.459G>T	6.37:g.27834849C>A	ENSP00000330074:p.Lys153Asn		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K153N	ENST00000331442.3	37	c.459	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953948	0.53293	.	.	ENSG00000184357	ENST00000331442	T	0.17691	2.26	5.19	4.3	0.51218	.	0.191066	0.43110	D	0.000603	T	0.06462	0.0166	N	0.08118	0	0.46356	D	0.999006	D	0.69078	0.997	P	0.52598	0.703	T	0.22068	-1.0227	10	0.28530	T	0.3	-5.6145	8.9898	0.36017	0.0:0.9012:0.0:0.0988	.	153	P16401	H15_HUMAN	N	153	ENSP00000330074:K153N	ENSP00000330074:K153N	K	-	3	2	HIST1H1B	27942828	0.985000	0.35326	1.000000	0.80357	0.951000	0.60555	0.641000	0.24720	2.600000	0.87896	0.655000	0.94253	AAG	HIST1H1B	-	NULL	ENSG00000184357		0.602	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	-	0	40	0	C	NM_005322		27834849	-1	tier1	-	no_errors	ENST00000331442	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	A	A	27834849	C	A	27834849	3	1	85	1	0	0	0	0	1	0	0	0	7150	912	32	3	225	3	HIST1H1B	6	27834849	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1289312	27834849	143280218	120	22670											
OR2J2	26707	genome.wustl.edu	37	chr6	29141566	29141566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcatcctgtcatacGtggactcccatctccacaca	10	11	4	16	1	5	0	4	0	1	0	8	1	7	1	3	1	1	0	3	1	1	1	rs141015719	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:29141566G>A	ENST00000377167.2	+	1	256	c.154G>A	c.(154-156)Gtg>Atg	p.V52M		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V52L(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCTGTCATACGTGGACTCCCA	0.453													G|||	5	0.000998403	0	0	5008	,	,		19016	0.005		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)						G	MET/VAL	0,4090		0,0,2045	171	163	166		154	-3.9	0.7	6	dbSNP_134	166	2,8462		0,2,4230	no	missense	OR2J2	NM_030905.2	21	0,2,6275	AA,AG,GG		0.0236,0.0,0.0159	benign	52/313	29141566	2,12552	2045	4232	6277	SO:0001583	missense	0				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.154G>A	6.37:g.29141566G>A	ENSP00000366372:p.Val52Met		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V52M	ENST00000377167.2	37	c.154	CCDS43434.1	6	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	2.473	-0.321483	0.05386	0.0	2.36E-4	ENSG00000204700	ENST00000377167	T	0.03094	4.05	2.48	-3.91	0.04168	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01320	0.0043	M	0.76574	2.34	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.46162	-0.9211	9	0.49607	T	0.09	.	0.8342	0.01137	0.1605:0.2025:0.3256:0.3114	.	52	O76002	OR2J2_HUMAN	M	52	ENSP00000366372:V52M	ENSP00000366372:V52M	V	+	1	0	OR2J2	29249545	0.000000	0.05858	0.715000	0.30552	0.395000	0.30598	-5.759000	0.00100	-0.577000	0.05967	-1.087000	0.02190	GTG	OR2J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204700		0.453	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J2	HGNC	protein_coding	OTTHUMT00000076131.2		0	46	0	G			29141566	1			no_errors	ENST00000377167	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.002	A	A	29141566	G	A	29141566	3	1	85	1	0	0	0	0	1	0	0	0	11042	1145	40	1	156	1	OR2J2	6	29141566	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1306717	29141566	141973501	121	22671											
TAPBP	6892	genome.wustl.edu	37	chr6	33272235	33272235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaatggtggcgcagggccGagagccacctctgcccctcg	6	5	15	15	4	1	1	0	0	1	1	2	3	1	2	5	4	2	1	5	4	1	0	rs374308480		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:33272235G>A	ENST00000489157.1	-	4	1000	c.788C>T	c.(787-789)tCg>tTg	p.S263L	TAPBP_ENST00000426633.2_Missense_Mutation_p.S350L|TAPBP_ENST00000434618.2_Missense_Mutation_p.S350L|TAPBP_ENST00000456592.2_Missense_Mutation_p.S350L|TAPBP_ENST00000475304.1_Missense_Mutation_p.S368L			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	350					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCGCAGGGCCGAGAGCCACCT	0.677																																																	0								G	LEU/SER,LEU/SER,LEU/SER	0,4402		0,0,2201	24	27	26		1049,1049,788	5.5	1	6		26	1,8587		0,1,4293	no	missense,missense,missense	TAPBP	NM_003190.4,NM_172208.2,NM_172209.2	145,145,145	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	350/449,350/505,263/362	33272235	1,12989	2201	4294	6495	SO:0001583	missense	0			Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"Immunoglobulin superfamily / C1-set domain containing"	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.788C>T	6.37:g.33272235G>A	ENSP00000419659:p.Ser263Leu		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin	p.S350L	ENST00000489157.1	37	c.1049	CCDS34427.2	6	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450426	0.84101	0.0	1.16E-4	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.51	5.51	0.81932	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.185406	0.47455	D	0.000222	T	0.31167	0.0788	M	0.63428	1.95	0.42321	D	0.992257	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.999	T	0.02371	-1.1169	10	0.87932	D	0	-25.3199	14.905	0.70711	0.0:0.0:1.0:0.0	.	350;263;368;350;350	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	L	350;368;263;350;350;350	ENSP00000395701:S350L;ENSP00000417949:S368L;ENSP00000419659:S263L;ENSP00000404833:S350L;ENSP00000387803:S350L	ENSP00000404833:S350L	S	-	2	0	TAPBP	33380213	0.999000	0.42202	0.953000	0.39169	0.777000	0.43975	4.921000	0.63397	2.598000	0.87819	0.498000	0.49722	TCG	TAPBP	-	pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin	ENSG00000231925		0.677	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	TAPBP	HGNC	protein_coding	OTTHUMT00000276425.2	-	0	47	0	G			33272235	-1	tier1	-	no_errors	ENST00000426633	ensembl	human	known	74_37	missense	18.60	70	16	SNP	0.980	A	A	33272235	G	A	33272235	3	1	85	1	0	0	0	0	1	0	0	0	15599	1059	37	1	493	1	TAPBP	6	33272235	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4130669	33272235	137842832	122	22672											
ANKS1A	23294	genome.wustl.edu	37	chr6	34952981	34952981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttggacagcatggccagcGggcgatcatctgaccaagac	10	6	13	12	3	2	2	1	1	1	1	2	4	2	3	2	3	2	2	2	3	1	1	rs147778746		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:34952981G>T	ENST00000360359.3	+	8	1273	c.1135G>T	c.(1135-1137)Ggg>Tgg	p.G379W	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	379					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CATGGCCAGCGGGCGATCATC	0.527																																																	0													96	89	91					6																	34952981		2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	20961	protein-coding gene	gene with protein product		608994	"ankyrin repeat and SAM domain containing 1", "ankyrin repeat and sterile alpha motif domain containing 1"	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1135G>T	6.37:g.34952981G>T	ENSP00000353518:p.Gly379Trp		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G379W	ENST00000360359.3	37	c.1135	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902876	0.72754	.	.	ENSG00000064999	ENST00000544150;ENST00000360359	T	0.43294	0.95	5.74	5.74	0.90152	.	0.000000	0.49916	D	0.000126	T	0.47414	0.1444	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50242	-0.8851	10	0.72032	D	0.01	-26.0549	18.0945	0.89485	0.0:0.0:1.0:0.0	.	379	Q92625	ANS1A_HUMAN	W	379	ENSP00000353518:G379W	ENSP00000353518:G379W	G	+	1	0	ANKS1A	35060959	1.000000	0.71417	0.922000	0.36590	0.342000	0.28953	8.582000	0.90791	2.700000	0.92200	0.655000	0.94253	GGG	ANKS1A	-	NULL	ENSG00000064999		0.527	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1		0	26	0	G	XM_166478		34952981	1			no_errors	ENST00000360359	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	34952981	G	T	34952981	3	4	85	1	0	0	0	0	1	0	0	0	688	1116	39	2	1165	2	ANKS1A	6	34952981	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1680746	34952981	136162086	123	22673											
C6orf222	389384	genome.wustl.edu	37	chr6	36291264	36291264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatttccttctgcagtgtGgggccgggttttctacaccc	5	13	12	11	1	2	1	0	0	2	1	3	2	3	1	3	3	2	2	3	3	1	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:36291264G>A	ENST00000437635.2	-	8	1454	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	426										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCTGCAGTGTGGGGCCGGGTT	0.537																																																	0													115	120	118					6																	36291264		2203	4300	6503	SO:0001583	missense	0				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1277C>T	6.37:g.36291264G>A	ENSP00000418983:p.Pro426Leu		B2RTY8	Missense_Mutation	SNP	NULL	p.P426L	ENST00000437635.2	37	c.1277	CCDS34439.1	6	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064724	0.36470	.	.	ENSG00000189325	ENST00000437635	T	0.70282	-0.47	4.68	0.901	0.19284	.	0.749679	0.11954	N	0.513411	T	0.34424	0.0897	L	0.35414	1.06	0.09310	N	0.999999	B	0.20052	0.041	B	0.20184	0.028	T	0.26573	-1.0099	10	0.30078	T	0.28	-29.2539	7.4082	0.27004	0.3706:0.0:0.6294:0.0	.	426	P0C671	CF222_HUMAN	L	426	ENSP00000418983:P426L	ENSP00000418983:P426L	P	-	2	0	C6orf222	36399242	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.373000	0.20484	0.027000	0.15297	-0.136000	0.14681	CCA	C6orf222	-	NULL	ENSG00000189325		0.537	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2	-	0	68	0	G	NM_001010903		36291264	-1	tier1	-	no_errors	ENST00000437635	ensembl	human	known	74_37	missense	13.33	52	8	SNP	0.000	A	A	36291264	G	A	36291264	3	1	85	1	0	0	0	0	1	0	0	0	2363	1348	47	3	701	3	C6orf222	6	36291264	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1338283	36291264	134823803	124	22674											
PTK7	5754	genome.wustl.edu	37	chr6	43098368	43098368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgagcctgcagtggctctttGaggatgagactcccatcact	8	10	11	12	1	2	2	1	2	1	1	3	5	3	3	2	2	2	2	2	2	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:43098368G>A	ENST00000230419.4	+	5	1002	c.781G>A	c.(781-783)Gag>Aag	p.E261K	PTK7_ENST00000352931.2_Missense_Mutation_p.E261K|PTK7_ENST00000349241.2_Missense_Mutation_p.E261K|PTK7_ENST00000471863.1_Missense_Mutation_p.E261K|PTK7_ENST00000481273.1_Missense_Mutation_p.E269K|PTK7_ENST00000345201.2_Missense_Mutation_p.E261K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	261	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E261K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTGGCTCTTTGAGGATGAGAC	0.582																																																	1	Substitution - Missense(1)	NS(1)											93	78	83					6																	43098368		2203	4300	6503	SO:0001583	missense	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9618	protein-coding gene	gene with protein product		601890	"PTK7 protein tyrosine kinase 7"			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.781G>A	6.37:g.43098368G>A	ENSP00000230419:p.Glu261Lys		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E261K	ENST00000230419.4	37	c.781	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436657	0.62955	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972;ENST00000481946	T;T;T;T;T;T;T	0.66638	4.81;4.81;4.81;-0.22;-0.22;4.81;4.81	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	L	0.45051	1.395	0.80722	D	1	B;D;D;D;D;D	0.63046	0.392;0.984;0.986;0.968;0.974;0.992	B;P;D;P;P;D	0.70227	0.262;0.888;0.917;0.79;0.81;0.968	T	0.62623	-0.6815	10	0.21014	T	0.42	.	19.798	0.96494	0.0:0.0:1.0:0.0	.	269;261;261;261;261;261	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	K	261;261;261;261;261;269;269;14	ENSP00000230419:E261K;ENSP00000419037:E261K;ENSP00000325462:E261K;ENSP00000326029:E261K;ENSP00000325992:E261K;ENSP00000418754:E269K;ENSP00000420165:E14K	ENSP00000230418:E261K	E	+	1	0	PTK7	43206346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.106000	0.89555	2.677000	0.91161	0.563000	0.77884	GAG	PTK7	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112655		0.582	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	-	0	33	0	G			43098368	1	tier1	-	no_errors	ENST00000230419	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A	A	43098368	G	A	43098368	3	1	85	1	0	0	0	0	1	0	0	0	12808	1291	45	3	799	3	PTK7	6	43098368	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	6807104	43098368	128016699	125	22675											
DST	667	genome.wustl.edu	37	chr6	56479180	56479180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagagaagggaggttttcCagccttctctgcatctttca	8	14	9	10	0	3	1	1	0	2	1	5	3	4	2	2	2	2	2	2	2	2	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:56479180C>T	ENST00000361203.3	-	33	4406	c.4399G>A	c.(4399-4401)Gga>Aga	p.G1467R	DST_ENST00000446842.2_Missense_Mutation_p.G1141R|DST_ENST00000244364.6_Missense_Mutation_p.G1141R|DST_ENST00000370754.5_Missense_Mutation_p.G1645R|DST_ENST00000370769.4_Missense_Mutation_p.G1467R|DST_ENST00000312431.6_Missense_Mutation_p.G1467R|DST_ENST00000370788.2_Missense_Mutation_p.G1467R|DST_ENST00000421834.2_Missense_Mutation_p.G1467R			Q03001	DYST_HUMAN	dystonin	1467					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGAGGTTTTCCAGCCTTCTCT	0.368																																																	0													182	163	169					6																	56479180		1830	4087	5917	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4399G>A	6.37:g.56479180C>T	ENSP00000354508:p.Gly1467Arg		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G1645R	ENST00000361203.3	37	c.4933		6	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540754	0.65085	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203	T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.88	5.88	0.94601	.	0.250691	0.27996	N	0.017020	T	0.26340	0.0643	L	0.34521	1.04	0.19300	N	0.99998	B;D;P;D;B;B	0.71674	0.0;0.998;0.604;0.996;0.041;0.0	B;D;B;D;B;B	0.69824	0.0;0.959;0.135;0.966;0.07;0.002	T	0.00998	-1.1486	9	0.21540	T	0.41	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	1467;1467;1645;1141;1467;1141	Q5TBT1;E7ERU2;E9PEB9;Q03001-9;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	R	1141;1645;1467;1467;1141;1467;1467;1467;1141	ENSP00000244364:G1141R;ENSP00000359790:G1645R;ENSP00000359805:G1467R;ENSP00000400883:G1467R;ENSP00000393645:G1141R;ENSP00000307959:G1467R;ENSP00000359824:G1467R;ENSP00000354508:G1467R;ENSP00000404924:G1141R	ENSP00000244364:G1141R	G	-	1	0	DST	56587139	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.402000	0.52608	2.788000	0.95919	0.650000	0.86243	GGA	DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	51	0	C	NM_001723		56479180	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	56479180	C	T	56479180	3	4	85	1	0	0	0	0	1	0	0	0	4797	603	21	3	12342	3	DST	6	56479180	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	13380812	56479180	114635887	126	22676											
IMPG1	3617	genome.wustl.edu	37	chr6	76751789	76751789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttcagttgtttcatttCttgggggattgtctatgtct	5	21	9	6	0	5	0	2	0	3	0	5	1	5	1	0	2	1	2	0	2	2	8			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:76751789C>T	ENST00000369950.3	-	2	311	c.122G>A	c.(121-123)aGa>aAa	p.R41K	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGTTTCATTTCTTGGGGGATT	0.318																																					Pancreas(37;839 1141 2599 26037)												0													166	160	162					6																	76751789		2203	4299	6502	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.122G>A	6.37:g.76751789C>T	ENSP00000358966:p.Arg41Lys			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.R41K	ENST00000369950.3	37	c.122	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231571	0.39399	.	.	ENSG00000112706	ENST00000369950	T	0.20463	2.07	6.07	4.3	0.51218	.	0.250028	0.35708	N	0.003029	T	0.07324	0.0185	L	0.53249	1.67	0.80722	D	1	P	0.37864	0.61	B	0.29598	0.104	T	0.12811	-1.0533	9	.	.	.	.	8.3646	0.32378	0.0:0.7377:0.1277:0.1345	.	41	Q17R60	IMPG1_HUMAN	K	41	ENSP00000358966:R41K	.	R	-	2	0	IMPG1	76808509	0.773000	0.28580	0.983000	0.44433	0.650000	0.38633	0.873000	0.28052	0.900000	0.36469	0.655000	0.94253	AGA	IMPG1	-	NULL	ENSG00000112706		0.318	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	-	0	48	0	C	NM_001563		76751789	-1	tier1	-	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	17.74	51	11	SNP	0.915	T	T	76751789	C	T	76751789	3	4	85	1	0	0	0	0	1	0	0	0	7755	913	32	3	2335	3	IMPG1	6	76751789	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	20272609	76751789	94363278	127	22677											
GRIK2	2898	genome.wustl.edu	37	chr6	102250255	102250255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactttcaacaaaaccaatgGcttgagaacagattttgatt	16	12	6	7	0	1	3	1	2	0	2	1	4	1	3	1	1	4	1	1	1	6	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:102250255G>T	ENST00000421544.1	+	8	1635	c.1145G>T	c.(1144-1146)gGc>gTc	p.G382V	GRIK2_ENST00000318991.6_Missense_Mutation_p.G382V|GRIK2_ENST00000369138.1_Missense_Mutation_p.G382V|GRIK2_ENST00000413795.1_Missense_Mutation_p.G382V|GRIK2_ENST00000369134.4_Missense_Mutation_p.G333V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G382V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	382					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAAACCAATGGCTTGAGAACA	0.343																																																	0													116	118	117					6																	102250255		2203	4299	6502	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1145G>T	6.37:g.102250255G>T	ENSP00000397026:p.Gly382Val		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G382V	ENST00000421544.1	37	c.1145	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181188	0.78677	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000369134;ENST00000540076;ENST00000455610	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.61	4.73	0.59995	Extracellular ligand-binding receptor (1);	0.056798	0.64402	D	0.000001	T	0.67002	0.2847	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.997;0.998;0.995	T	0.78518	-0.2173	10	0.87932	D	0	.	16.4336	0.83861	0.0:0.1316:0.8684:0.0	.	382;382;382	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	382;382;382;382;382;382;333;344;95	ENSP00000397026:G382V;ENSP00000405596:G382V;ENSP00000358134:G382V;ENSP00000358133:G382V;ENSP00000313276:G382V;ENSP00000358130:G333V;ENSP00000391988:G95V	ENSP00000313276:G382V	G	+	2	0	GRIK2	102356948	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.398000	0.97281	1.322000	0.45245	0.544000	0.68410	GGC	GRIK2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000164418		0.343	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0	56	0	G			102250255	1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	missense	12.50	49	7	SNP	1.000	T	T	102250255	G	T	102250255	3	4	85	1	0	0	0	0	1	0	0	0	6801	1203	42	3	1175	3	GRIK2	6	102250255	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	25498466	102250255	68864812	128	22678											
CDC40	51362	genome.wustl.edu	37	chr6	110501659	110501659	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccgtcatgtcggctgcGattgcagctctggccgcttc	3	12	13	13	4	2	0	1	0	1	0	4	1	2	0	2	2	4	5	2	2	0	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:110501659G>T	ENST00000368932.1	+	2	113	c.12G>T	c.(10-12)gcG>gcT	p.A4A	WASF1_ENST00000392588.1_5'Flank|WASF1_ENST00000392587.2_5'Flank|WASF1_ENST00000392589.1_5'Flank|WASF1_ENST00000392586.1_5'Flank|CDC40_ENST00000368930.1_Silent_p.A4A|CDC40_ENST00000307731.1_Silent_p.A4A|WASF1_ENST00000359451.2_5'Flank			O60508	PRP17_HUMAN	cell division cycle 40	4					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TGTCGGCTGCGATTGCAGCTC	0.592																																																	0													52	50	50					6																	110501659		2203	4300	6503	SO:0001819	synonymous_variant	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.12G>T	6.37:g.110501659G>T			B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A4	ENST00000368932.1	37	c.12	CCDS5081.1	6																																																																																			CDC40	-	NULL	ENSG00000168438		0.592	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	-	0	20	0	G	NM_015891		110501659	1	tier1	-	no_errors	ENST00000307731	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.784	T	T	110501659	G	T	110501659	2	4	85	1	0	0	0	0	0	0	0	1	3077	1045	37	2		2	CDC40	6	110501659	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	8251404	110501659	60613408	129	22679											
CDC40	51362	genome.wustl.edu	37	chr6	110501702	110501702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atggttcgggttcagggtccGaatcggactcggacagtgag	8	9	16	8	4	1	1	1	1	0	0	5	4	2	3	1	5	0	2	1	5	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:110501702G>C	ENST00000368932.1	+	2	156	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	WASF1_ENST00000392588.1_5'Flank|WASF1_ENST00000392587.2_5'Flank|WASF1_ENST00000392589.1_5'Flank|WASF1_ENST00000392586.1_5'Flank|CDC40_ENST00000368930.1_Missense_Mutation_p.E19Q|CDC40_ENST00000307731.1_Missense_Mutation_p.E19Q|WASF1_ENST00000359451.2_5'Flank			O60508	PRP17_HUMAN	cell division cycle 40	19					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTCAGGGTCCGAATCGGACTC	0.587																																																	0													61	58	59					6																	110501702		2203	4300	6503	SO:0001583	missense	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.55G>C	6.37:g.110501702G>C	ENSP00000357928:p.Glu19Gln		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E19Q	ENST00000368932.1	37	c.55	CCDS5081.1	6	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364548	0.61513	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.61980	0.18;0.06;0.06;0.18	5.54	4.67	0.58626	.	0.143965	0.64402	D	0.000007	T	0.40932	0.1137	L	0.43152	1.355	0.58432	D	0.999991	B	0.22414	0.069	B	0.28011	0.085	T	0.40739	-0.9547	10	0.36615	T	0.2	-26.5964	13.1962	0.59740	0.0:0.0:0.8405:0.1595	.	19	O60508	PRP17_HUMAN	Q	19	ENSP00000357928:E19Q;ENSP00000357929:E19Q;ENSP00000357926:E19Q;ENSP00000304370:E19Q	ENSP00000304370:E19Q	E	+	1	0	CDC40	110608395	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.761000	0.62243	1.565000	0.49641	0.655000	0.94253	GAA	CDC40	-	NULL	ENSG00000168438		0.587	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	-	0	28	0	G	NM_015891		110501702	1	tier1	-	no_errors	ENST00000307731	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	C	C	110501702	G	C	110501702	3	2	85	1	0	0	0	0	1	0	0	0	3077	1059	37	5	57	5	CDC40	6	110501702	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	43	110501702	60613365	130	22680											
TRMT11	60487	genome.wustl.edu	37	chr6	126329537	126329537	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaattgtgtgatttttcaGgtggcctgctgatagcatgt	9	15	11	6	0	1	2	1	2	0	0	1	2	1	2	1	2	2	2	1	2	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr6:126329537G>T	ENST00000334379.5	+	8	800		c.e8-1		TRMT11_ENST00000368332.3_Splice_Site|TRMT11_ENST00000450358.1_Splice_Site	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)						tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TGATTTTTCAGGTGGCCTGCT	0.423																																																	1	Unknown(1)	lung(1)											262	230	240					6																	126329537		2203	4300	6503	SO:0001630	splice_region_variant	0			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 75"	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.680-1G>T	6.37:g.126329537G>T			E1P570|Q5JY11|Q6PGQ5|Q9HC13	Splice_Site	SNP	-	e8-1	ENST00000334379.5	37	c.680-1	CCDS35496.1	6	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457730	0.84317	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000453993	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1511	0.98086	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRMT11	126371230	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	.	TRMT11	-	-	ENSG00000066651		0.423	TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT11	HGNC	protein_coding			0	32	0	G	NM_021820	Intron	126329537	1			no_errors	ENST00000334379	ensembl	human	known	74_37	splice_site	6.45	29	2	SNP	1.000	T	T	126329537	G	T	126329537	5	4	85	1	0	0	0	0	0	0	1	0	16610	1014	35	3	709	3	TRMT11	6	126329537	Splice_Site	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	15827835	126329537	44785530	131	22681											
FOXK1	221937	genome.wustl.edu	37	chr7	4800867	4800867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccagtccgggccgtgacCcagaacggaaagcatgcggt	9	6	13	13	4	0	2	0	1	0	1	2	3	2	3	4	3	3	1	4	3	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:4800867C>T	ENST00000328914.4	+	8	1869	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	FOXK1_ENST00000446823.1_Silent_p.T460T	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GGGCCGTGACCCAGAACGGAA	0.662																																																	0													48	46	47					7																	4800867		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"Forkhead boxes"	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1869C>T	7.37:g.4800867C>T				Silent	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.T623	ENST00000328914.4	37	c.1869	CCDS34591.1	7																																																																																			FOXK1	-	NULL	ENSG00000164916		0.662	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	-	0	93	0	C			4800867	1	tier1	-	no_errors	ENST00000328914	ensembl	human	known	74_37	silent	13.22	105	16	SNP	0.177	T	T	4800867	C	T	4800867	2	4	85	1	0	0	0	0	0	0	0	1	6038	610	22	3		3	FOXK1	7	4800867	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09		4800867	154337796	132	22682											
FZD9	8326	genome.wustl.edu	37	chr7	72849459	72849459	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaagaccatcgtcatcctGaccctgcgcaaggtggcggg	8	7	12	14	3	2	2	2	1	0	1	4	2	3	2	3	3	1	1	3	3	2	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:72849459G>C	ENST00000344575.3	+	1	1351	c.1122G>C	c.(1120-1122)ctG>ctC	p.L374L		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	374					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCGTCATCCTGACCCTGCGCA	0.657																																					Pancreas(144;909 1878 36867 38226 39554)												0													44	42	43					7																	72849459		2203	4300	6503	SO:0001819	synonymous_variant	0			U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"GPCR / Class F : Frizzled receptors", "CD molecules"	4047	protein-coding gene	gene with protein product		601766	"frizzled (Drosophila) homolog 9", "frizzled homolog 9 (Drosophila)", "frizzled 9, seven transmembrane spanning receptor", "frizzled family receptor 9"			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.1122G>C	7.37:g.72849459G>C				Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.L374	ENST00000344575.3	37	c.1122	CCDS5548.1	7																																																																																			FZD9	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000188763		0.657	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD9	HGNC	protein_coding	OTTHUMT00000252120.1	-	0	23	0	G			72849459	1	tier1	-	no_errors	ENST00000344575	ensembl	human	known	74_37	silent	31.11	31	14	SNP	1.000	C	C	72849459	G	C	72849459	2	2	85	1	0	0	0	0	0	0	0	1	6161	1277	45	5		5	FZD9	7	72849459	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	68048592	72849459	86289204	133	22683											
HEPACAM2	253012	genome.wustl.edu	37	chr7	92848665	92848665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatctggatgtctgatgctGgagtgtggaagccatagtgg	8	12	16	5	0	2	2	0	2	2	0	2	5	2	5	1	4	2	1	1	4	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:92848665G>T	ENST00000394468.2	-	2	256	c.179C>A	c.(178-180)cCa>cAa	p.P60Q	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P48Q|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P48Q|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P83Q	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	60					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GTCTGATGCTGGAGTGTGGAA	0.527																																																	0													141	139	139					7																	92848665		2203	4300	6503	SO:0001583	missense	0			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.179C>A	7.37:g.92848665G>T	ENSP00000377980:p.Pro60Gln		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P60Q	ENST00000394468.2	37	c.179	CCDS43616.1	7	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788311	0.31593	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.72	-1.81	0.07882	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.725376	0.14559	N	0.312210	T	0.43478	0.1249	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.39601	0.391;0.68;0.301;0.34	B;B;B;B	0.38880	0.212;0.284;0.16;0.064	T	0.37407	-0.9707	10	0.72032	D	0.01	0.9167	2.731	0.05227	0.2904:0.1104:0.4859:0.1133	.	83;48;60;48	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	Q	60;48;48;83	ENSP00000377980:P60Q;ENSP00000340532:P48Q;ENSP00000389592:P48Q;ENSP00000390204:P83Q	ENSP00000340532:P48Q	P	-	2	0	HEPACAM2	92686601	0.000000	0.05858	0.009000	0.14445	0.580000	0.36256	0.077000	0.14738	-0.390000	0.07774	-0.913000	0.02753	CCA	HEPACAM2	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000188175		0.527	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM2	HGNC	protein_coding	OTTHUMT00000254651.1	-	0	49	0	G	NM_198151		92848665	-1	tier1	-	no_errors	ENST00000394468	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.004	T	T	92848665	G	T	92848665	3	4	85	1	0	0	0	0	1	0	0	0	7080	1348	47	3	1245	3	HEPACAM2	7	92848665	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	19999206	92848665	66289998	134	22684											
GNB2	2783	genome.wustl.edu	37	chr7	100276334	100276334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggagtcctcgctggccaCgacaaccgcgtgagctgcct	8	6	12	15	4	0	1	0	1	0	0	2	3	1	2	4	2	3	2	4	2	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:100276334C>T	ENST00000303210.4	+	10	1415	c.933C>T	c.(931-933)caC>caT	p.H311H	GNB2_ENST00000419828.1_Silent_p.H211H|GNB2_ENST00000424361.1_Silent_p.H267H|GNB2_ENST00000393924.1_Silent_p.H311H|GNB2_ENST00000427895.1_Silent_p.H211H|GNB2_ENST00000393926.1_Silent_p.H311H|GNB2_ENST00000436220.1_Silent_p.H267H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	311					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCGCTGGCCACGACAACCGCG	0.647																																																	0													61	64	63					7																	100276334		2203	4300	6503	SO:0001819	synonymous_variant	0			M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"WD repeat domain containing"	4398	protein-coding gene	gene with protein product	"G protein, beta-2 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2", "signal-transducing guanine nucleotide-binding regulatory protein beta subunit", "transducin beta chain 2"	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.933C>T	7.37:g.100276334C>T			B3KPU1|P11016|P54312	Silent	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H311	ENST00000303210.4	37	c.933	CCDS5703.1	7																																																																																			GNB2	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000172354		0.647	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB2	HGNC	protein_coding	OTTHUMT00000268391.2	-	0	37	0	C	NM_005273		100276334	1	tier1	-	no_errors	ENST00000303210	ensembl	human	known	74_37	silent	42.86	40	30	SNP	0.296	T	T	100276334	C	T	100276334	2	4	85	1	0	0	0	0	0	0	0	1	6543	535	19	1		1	GNB2	7	100276334	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7427669	100276334	58862329	135	22685											
MUC17	140453	genome.wustl.edu	37	chr7	100680134	100680134	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgactccattaacaagcAcacctgtcagccacacgctg	13	7	7	14	1	1	1	1	1	0	0	2	2	2	1	3	0	3	2	3	0	3	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:100680134A>C	ENST00000306151.4	+	3	5501	c.5437A>C	c.(5437-5439)Aca>Cca	p.T1813P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1813	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATTAACAAGCACACCTGTCAG	0.498																																																	0													229	233	232					7																	100680134		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5437A>C	7.37:g.100680134A>C	ENSP00000302716:p.Thr1813Pro		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T1813P	ENST00000306151.4	37	c.5437	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	a	0.019	-1.453869	0.01071	.	.	ENSG00000169876	ENST00000306151	T	0.03301	3.98	0.824	-1.65	0.08291	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	0.09310	N	1	B	0.33266	0.404	B	0.18263	0.021	T	0.42865	-0.9426	9	0.27785	T	0.31	.	1.655	0.02779	0.4184:0.0:0.2622:0.3194	.	1813	Q685J3	MUC17_HUMAN	P	1813	ENSP00000302716:T1813P	ENSP00000302716:T1813P	T	+	1	0	MUC17	100466854	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.583000	0.05807	-1.802000	0.01244	-1.567000	0.00876	ACA	MUC17	-	NULL	ENSG00000169876		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	83	0	A	NM_001040105		100680134	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	13.64	114	18	SNP	0.000	C	C	100680134	A	C	100680134	3	2	85	1	0	0	0	0	1	0	0	0	10012	159	6	4	5447	4	MUC17	7	100680134	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	403800	100680134	58458529	136	22686											
PRKRIP1	79706	genome.wustl.edu	37	chr7	102065491	102065491	+	Missense_Mutation	SNP	G	G	C																															gcccaaggagcaggggtccaGcagctctgcggaggcatctg																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:102065491G>C	ENST00000496391.1	+	10	1798	c.488G>C	c.(487-489)aGc>aCc	p.S163T	RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.S163T|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.Q103H|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.S106T			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	163	Poly-Ser.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						CAGGGGTCCAGCAGCTCTGCG	0.552																																																	0													60	54	56					7																	102065491		2203	4300	6503	SO:0001583	missense	0			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"Zinc fingers, C2H2-type", "-"	21894	protein-coding gene	gene with protein product	"likely ortholog of mouse C114 dsRNA-binding protein", "KRAB box domain containing 3"					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.488G>C	7.37:g.102065491G>C	ENSP00000419270:p.Ser163Thr		B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	pfam_DUF1168	p.S163T	ENST00000496391.1	37	c.488	CCDS34714.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.917|9.917	1.211175|1.211175	0.22289|0.22289	.|.	.|.	ENSG00000128563|ENSG00000128563	ENST00000354783|ENST00000496391;ENST00000462601;ENST00000397912	T|T;T;T	0.47177|0.44482	0.85|0.92;0.92;0.92	3.3|3.3	3.3|3.3	0.37823|0.37823	.|.	.|0.977359	.|0.08451	.|N	.|0.943860	T|T	0.50377|0.50377	0.1612|0.1612	L|L	0.58101|0.58101	1.795|1.795	0.22424|0.22424	N|N	0.999118|0.999118	P|B;D	0.42123|0.53312	0.771|0.284;0.959	P|B;P	0.48114|0.51742	0.567|0.115;0.678	T|T	0.37009|0.37009	-0.9724|-0.9724	9|10	0.56958|0.26408	D|T	0.05|0.33	-37.453|-37.453	12.4081|12.4081	0.55451|0.55451	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	103|106;163	B4DGM2|E9PC43;Q9H875	.|.;PKRI1_HUMAN	H|T	103|163;106;163	ENSP00000346837:Q103H|ENSP00000419270:S163T;ENSP00000420136:S106T;ENSP00000381010:S163T	ENSP00000346837:Q103H|ENSP00000381010:S163T	Q|S	+|+	3|2	2|0	PRKRIP1|PRKRIP1	101852496|101852496	0.490000|0.490000	0.26012|0.26012	0.782000|0.782000	0.31804|0.31804	0.015000|0.015000	0.08874|0.08874	1.449000|1.449000	0.35123|0.35123	2.146000|2.146000	0.66826|0.66826	0.561000|0.561000	0.74099|0.74099	CAG|AGC	PRKRIP1	-	pfam_DUF1168	ENSG00000128563		0.552	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	-	0	25	0	G	NM_024653		102065491	1	tier1	-	no_errors	ENST00000397912	ensembl	human	known	74_37	missense	40.48	25	17	SNP	0.932	C	C	102065491	G	C	102065491	3	2	85	1	0	0	0	0	1	0	0	0	12567	971	34	5	510	5	PRKRIP1	7	102065491	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1385357	102065491	57073172	137	22687	88	2									
PRKRIP1	79706	genome.wustl.edu	37	chr7	102065493	102065493	+	Missense_Mutation	SNP	A	A	C																															ccaaggagcaggggtccagcAgctctgcggaggcatctgga																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:102065493A>C	ENST00000496391.1	+	10	1800	c.490A>C	c.(490-492)Agc>Cgc	p.S164R	RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.S164R|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.Q104P|PRKRIP1_ENST00000462601.1_Missense_Mutation_p.S107R			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	164	Poly-Ser.				negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						GGGGTCCAGCAGCTCTGCGGA	0.552																																																	0													59	53	55					7																	102065493		2203	4300	6503	SO:0001583	missense	0			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"Zinc fingers, C2H2-type", "-"	21894	protein-coding gene	gene with protein product	"likely ortholog of mouse C114 dsRNA-binding protein", "KRAB box domain containing 3"					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.490A>C	7.37:g.102065493A>C	ENSP00000419270:p.Ser164Arg		B4DGM2|Q8NDM6|Q96CF8	Missense_Mutation	SNP	pfam_DUF1168	p.S164R	ENST00000496391.1	37	c.490	CCDS34714.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.739|7.739	0.700811|0.700811	0.15172|0.15172	.|.	.|.	ENSG00000128563|ENSG00000128563	ENST00000354783|ENST00000496391;ENST00000462601;ENST00000397912	T|T;T;T	0.46451|0.43688	0.87|0.94;0.94;0.94	3.3|3.3	2.05|2.05	0.26809|0.26809	.|.	.|0.789213	.|0.12211	.|N	.|0.489320	T|T	0.35278|0.35278	0.0926|0.0926	L|L	0.50333|0.50333	1.59|1.59	0.21841|0.21841	N|N	0.999519|0.999519	P|P;P	0.45569|0.41748	0.861|0.761;0.57	B|B;B	0.29716|0.42386	0.106|0.378;0.386	T|T	0.13150|0.13150	-1.0520|-1.0520	9|10	0.39692|0.29301	T|T	0.17|0.29	-28.8083|-28.8083	4.9738|4.9738	0.14129|0.14129	0.7214:0.0:0.2786:0.0|0.7214:0.0:0.2786:0.0	.|.	104|107;164	B4DGM2|E9PC43;Q9H875	.|.;PKRI1_HUMAN	P|R	104|164;107;164	ENSP00000346837:Q104P|ENSP00000419270:S164R;ENSP00000420136:S107R;ENSP00000381010:S164R	ENSP00000346837:Q104P|ENSP00000381010:S164R	Q|S	+|+	2|1	0|0	PRKRIP1|PRKRIP1	101852498|101852498	0.967000|0.967000	0.33354|0.33354	0.920000|0.920000	0.36463|0.36463	0.027000|0.027000	0.11550|0.11550	1.988000|1.988000	0.40697|0.40697	0.577000|0.577000	0.29470|0.29470	0.459000|0.459000	0.35465|0.35465	CAG|AGC	PRKRIP1	-	pfam_DUF1168	ENSG00000128563		0.552	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	-	0	25	0	A	NM_024653		102065493	1	tier1	-	no_errors	ENST00000397912	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.963	C	C	102065493	A	C	102065493	3	2	85	1	0	0	0	0	1	0	0	0	12567	188	7	4	512	4	PRKRIP1	7	102065493	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	2	102065493	57073170	138	22688	88	2									
PAX4	5078	genome.wustl.edu	37	chr7	127255145	127255145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcacacagccattaGatacctgagtcaggtgagaa	12	10	9	10	0	3	3	2	2	1	2	3	4	3	3	2	1	3	1	2	1	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:127255145G>T	ENST00000341640.2	-	2	330	c.125C>A	c.(124-126)tCt>tAt	p.S42Y	PAX4_ENST00000338516.3_Missense_Mutation_p.S50Y|PAX4_ENST00000463946.1_Missense_Mutation_p.S40Y|PAX4_ENST00000378740.2_Missense_Mutation_p.S42Y	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	50	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAGCCATTAGATACCTGAGT	0.562																																					Ovarian(113;737 1605 7858 27720 34092)												0													62	58	60					7																	127255145		2203	4300	6503	SO:0001583	missense	0				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.125C>A	7.37:g.127255145G>T	ENSP00000339906:p.Ser42Tyr		O95161|Q6B0H0	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.S42Y	ENST00000341640.2	37	c.125	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881010	0.91740	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99701	-6.45;-6.45;-6.28	5.73	5.73	0.89815	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99782	0.9909	M	0.92077	3.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.97317	0.9941	10	0.87932	D	0	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	42;40;50;40	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	Y	42;50;50;40	ENSP00000339906:S42Y;ENSP00000344297:S50Y;ENSP00000451923:S40Y	ENSP00000344297:S50Y	S	-	2	0	PAX4	127042381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.689000	0.98673	2.693000	0.91896	0.655000	0.94253	TCT	PAX4	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000106331		0.562	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1		0	24	0	G			127255145	-1			no_errors	ENST00000341640	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	127255145	G	T	127255145	3	4	85	1	0	0	0	0	1	0	0	0	11520	942	33	3	938	3	PAX4	7	127255145	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	25189652	127255145	31883518	139	22689											
TRIM24	8805	genome.wustl.edu	37	chr7	138189074	138189074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttgcagccaagaatgtgCagagagacacatcatagata	16	8	10	7	0	1	4	1	0	0	4	1	5	1	4	1	0	3	3	1	0	4	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:138189074C>T	ENST00000343526.4	+	2	619	c.404C>T	c.(403-405)gCa>gTa	p.A135V	TRIM24_ENST00000415680.2_Missense_Mutation_p.A135V|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	135					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CAAGAATGTGCAGAGAGACAC	0.353																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													121	118	119					7																	138189074		2203	4300	6503	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.404C>T	7.37:g.138189074C>T	ENSP00000340507:p.Ala135Val		A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.A135V	ENST00000343526.4	37	c.404	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063193	0.76187	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.76839	-1.05;-1.04	5.17	5.17	0.71159	Zinc finger, RING/FYVE/PHD-type (1);	0.119930	0.56097	D	0.000023	T	0.79516	0.4459	N	0.25332	0.735	0.41527	D	0.988438	P;D	0.65815	0.457;0.995	B;D	0.66196	0.379;0.942	T	0.73458	-0.3976	10	0.12430	T	0.62	-16.4335	18.4584	0.90729	0.0:1.0:0.0:0.0	.	135;135	O15164;O15164-2	TIF1A_HUMAN;.	V	135;135;46;135;93	ENSP00000340507:A135V;ENSP00000390829:A135V	ENSP00000340507:A135V	A	+	2	0	TRIM24	137839614	0.987000	0.35691	0.998000	0.56505	0.996000	0.88848	1.155000	0.31700	2.684000	0.91462	0.650000	0.86243	GCA	TRIM24	-	NULL	ENSG00000122779		0.353	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1		0	29	0	C	NM_015905		138189074	1			no_errors	ENST00000343526	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	138189074	C	T	138189074	3	4	85	1	0	0	0	0	1	0	0	0	16546	710	25	3	410	3	TRIM24	7	138189074	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	10933929	138189074	20949589	140	22690											
MGAM	8972	genome.wustl.edu	37	chr7	141754576	141754576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgatcccaacaagaatcGgtatgaagttccagtccctc	12	11	7	11	1	0	3	0	2	0	1	5	3	3	3	3	1	1	2	3	1	6	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:141754576G>T	ENST00000549489.2	+	27	3277	c.3182G>T	c.(3181-3183)cGg>cTg	p.R1061L	MGAM_ENST00000475668.2_Missense_Mutation_p.R1061L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1061					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACAAGAATCGGTATGAAGTT	0.413																																																	0													157	149	151					7																	141754576		1897	4102	5999	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3182G>T	7.37:g.141754576G>T	ENSP00000447378:p.Arg1061Leu		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.R1061L	ENST00000549489.2	37	c.3182	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273161	0.59649	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.23348	1.91	4.1	4.1	0.47936	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.35585	N	0.003115	T	0.62950	0.2470	H	0.95365	3.66	0.40036	D	0.975591	D	0.89917	1.0	D	0.97110	1.0	T	0.77563	-0.2541	10	0.87932	D	0	.	15.075	0.72071	0.0:0.0:1.0:0.0	.	1061	O43451	MGA_HUMAN	L	1061;1061;938	ENSP00000447378:R1061L	ENSP00000316431:R938L	R	+	2	0	MGAM	141401045	1.000000	0.71417	0.589000	0.28718	0.180000	0.23129	8.923000	0.92808	1.818000	0.53035	0.305000	0.20034	CGG	MGAM	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000257335		0.413	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	83	0	G			141754576	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.992	T	T	141754576	G	T	141754576	3	4	85	1	0	0	0	0	1	0	0	0	9579	1116	39	2	3284	2	MGAM	7	141754576	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	3565502	141754576	17384087	141	22691											
TRPV6	55503	genome.wustl.edu	37	chr7	142571887	142571887	+	Frame_Shift_Del	DEL	A	A	-																															cagaatcgcatcaggtcgccAaaaatcatctagaaggagca																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:142571887delA	ENST00000359396.3	-	12	1706	c.1461delT	c.(1459-1461)tttfs	p.F487fs	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	487					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCAGGTCGCCAAAAATCATCT	0.542																																																	0													67	50	56					7																	142571887		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	14006	protein-coding gene	gene with protein product		606680	"epithelial calcium channel 2"	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1461delT	7.37:g.142571887delA	ENSP00000352358:p.Phe487fs		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.F487fs	ENST00000359396.3	37	c.1461	CCDS5874.1	7																																																																																			TRPV6	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000165125		0.542	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1		0	32	0	A	NM_014274		142571887	-1	tier1		no_errors	ENST00000359396	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000	-	-	142571887	A	-	142571887	7	5	85	1	0	1	0	1	0	0	0	0	16648	127	5	0	732	0	TRPV6	7	142571887	Frame_Shift_Del	DEL	A	TCGA-L5-A8NK-01A-21D-A37C-09	817311	142571887	16566776	142	22692											
MLL3	58508	genome.wustl.edu	37	chr7	151873959	151873959	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctccatcatttaggtctGagtgagcagaagcctgtgag	9	13	11	8	0	3	4	1	3	2	1	4	4	3	4	2	1	2	1	2	1	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr7:151873959G>C	ENST00000262189.6	-	38	8797	c.8579C>G	c.(8578-8580)tCa>tGa	p.S2860*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S2860*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2860					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATTTAGGTCTGAGTGAGCAGA	0.403																																																	0													130	127	128					7																	151873959		2203	4300	6503	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8579C>G	7.37:g.151873959G>C	ENSP00000262189:p.Ser2860*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2860*	ENST00000262189.6	37	c.8579	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.593136	0.99751	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.4	3.58	0.41010	.	0.476844	0.17092	N	0.187321	.	.	.	.	.	.	0.22940	N	0.998533	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	8.295	0.31980	0.1375:0.0:0.7348:0.1277	.	.	.	.	X	2860	.	ENSP00000262189:S2860X	S	-	2	0	MLL3	151504892	0.042000	0.20092	0.000000	0.03702	0.088000	0.18126	1.568000	0.36418	0.641000	0.30601	-0.188000	0.12872	TCA	KMT2C	-	NULL	ENSG00000055609		0.403	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	19	0	G			151873959	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	nonsense	38.64	27	17	SNP	0.002	C	C	151873959	G	C	151873959	4	2	85	1	0	0	0	0	0	1	0	0	9660	1294	45	5	6244	5	MLL3	7	151873959	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	9302072	151873959	7264704	143	22693											
SGK223	157285	genome.wustl.edu	37	chr8	8185481	8185481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgttgctcaggagaccGtgcagctgaagctgggtgct	7	10	15	9	1	1	3	1	2	0	1	1	4	1	3	1	2	5	6	1	2	1	1	rs142121457	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:8185481G>T	ENST00000520004.1	-	5	3075	c.2811C>A	c.(2809-2811)caC>caA	p.H937Q	SGK223_ENST00000330777.4_Missense_Mutation_p.H937Q			Q86YV5	SG223_HUMAN		939							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TCAGGAGACCGTGCAGCTGAA	0.647																																					GBM(34;731 755 10259 33573 33867)												0													40	44	43					8																	8185481		2015	4182	6197	SO:0001583	missense	0																														ENST00000520004.1:c.2811C>A	8.37:g.8185481G>T	ENSP00000428054:p.His937Gln		Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.H937Q	ENST00000520004.1	37	c.2811	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	8.141	0.785181	0.16189	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.28069	1.63;1.63	4.73	3.85	0.44370	.	0.261806	0.38381	N	0.001715	T	0.19046	0.0457	N	0.25144	0.715	0.35999	D	0.837275	B	0.23735	0.09	B	0.21917	0.037	T	0.13710	-1.0499	10	0.12103	T	0.63	.	12.3871	0.55338	0.0822:0.0:0.9178:0.0	.	937	Q86YV5	SG223_HUMAN	Q	937	ENSP00000330930:H937Q;ENSP00000428054:H937Q	ENSP00000330930:H937Q	H	-	3	2	AC068353.1	8222891	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	3.169000	0.50809	1.359000	0.45940	0.563000	0.77884	CAC	SGK223	-	NULL	ENSG00000182319		0.647	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1		0	27	0	G			8185481	-1			no_errors	ENST00000330777	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	8185481	G	T	8185481	3	4	85	1	0	0	0	0	1	0	0	0	14255	1136	40	2	1405	2	SGK223	8	8185481	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		8185481	138178541	144	22694											
TNKS	8658	genome.wustl.edu	37	chr8	9437894	9437894	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagatcgatgtgtgcattgGtaagtatcatttgatgatat	12	15	11	3	1	1	3	1	2	0	1	2	5	1	3	0	1	1	3	0	1	4	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:9437894G>T	ENST00000310430.6	+	2	924		c.e2+1		TNKS_ENST00000520408.1_Splice_Site|TNKS_ENST00000518281.1_Splice_Site	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase						mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTGTGCATTGGTAAGTATCAT	0.358																																																	0													99	90	93					8																	9437894		2203	4300	6503	SO:0001630	splice_region_variant	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.898+1G>T	8.37:g.9437894G>T			O95272|Q4G0F2	Splice_Site	SNP	-	e2+1	ENST00000310430.6	37	c.898+1	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435960	0.83885	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0114	0.97452	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNKS	9475304	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.835000	0.99442	2.732000	0.93576	0.591000	0.81541	.	TNKS	-	-	ENSG00000173273		0.358	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1		0	18	0	G	NM_003747	Intron	9437894	1			no_errors	ENST00000310430	ensembl	human	known	74_37	splice_site	7.69	36	3	SNP	1.000	T	T	9437894	G	T	9437894	5	4	85	1	0	0	0	0	0	0	1	0	16366	1275	44	3	905	3	TNKS	8	9437894	Splice_Site	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1252413	9437894	136926128	145	22695											
HGSNAT	138050	genome.wustl.edu	37	chr8	43037398	43037398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgtgcctgaacattgtGcctcggtgagaaaccatgtt	10	11	10	10	1	0	2	0	2	0	1	1	3	0	2	4	1	5	1	4	1	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:43037398G>T	ENST00000458501.2	+	11	1207	c.1207G>T	c.(1207-1209)Gcc>Tcc	p.A403S	HGSNAT_ENST00000379644.4_Missense_Mutation_p.A375S|HGSNAT_ENST00000521576.1_Missense_Mutation_p.A92S|HGSNAT_ENST00000297798.7_Missense_Mutation_p.A107S			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	403					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGAACATTGTGCCTCGGTGAG	0.423																																																	0													431	408	415					8																	43037398		2001	4173	6174	SO:0001583	missense	0				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"transmembrane protein 76"	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.1207G>T	8.37:g.43037398G>T	ENSP00000389524:p.Ala403Ser		B4E2V0	Missense_Mutation	SNP	pfam_DUF1624	p.A403S	ENST00000458501.2	37	c.1207		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.75|11.75	1.730680|1.730680	0.30684|0.30684	.|.	.|.	ENSG00000165102|ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082;ENST00000521576;ENST00000297798|ENST00000524016	T;T;T;T;T|T	0.21734|0.41400	2.29;2.29;2.52;1.99;2.0|1.0	5.13|5.13	-2.76|-2.76	0.05896|0.05896	.|.	0.873151|.	0.10145|.	N|.	0.710393|.	T|T	0.13500|0.13500	0.0327|0.0327	N|N	0.02721|0.02721	-0.515|-0.515	0.09310|0.09310	N|N	1|1	B|.	0.20550|.	0.046|.	B|.	0.15484|.	0.013|.	T|T	0.31081|0.31081	-0.9956|-0.9956	10|7	0.10111|0.10111	T|T	0.7|0.7	-0.2249|-0.2249	5.3932|5.3932	0.16255|0.16255	0.5486:0.0:0.3027:0.1486|0.5486:0.0:0.3027:0.1486	.|.	403|.	Q68CP4|.	HGNAT_HUMAN|.	S|F	403;375;122;92;107|76	ENSP00000389524:A403S;ENSP00000368965:A375S;ENSP00000430151:A122S;ENSP00000429029:A92S;ENSP00000297798:A107S|ENSP00000428322:C76F	ENSP00000297798:A107S|ENSP00000428322:C76F	A|C	+|+	1|2	0|0	HGSNAT|HGSNAT	43156555|43156555	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.947000|0.947000	0.59692|0.59692	-0.043000|-0.043000	0.12043|0.12043	-0.199000|-0.199000	0.10317|0.10317	-0.143000|-0.143000	0.13931|0.13931	GCC|TGC	HGSNAT	-	NULL	ENSG00000165102		0.423	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		-	0	69	0	G	XM_372038		43037398	1	tier1	-	no_errors	ENST00000458501	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.000	T	T	43037398	G	T	43037398	3	4	85	1	0	0	0	0	1	0	0	0	7115	1319	46	3	1165	3	HGSNAT	8	43037398	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	33599504	43037398	103326624	146	22696											
CHD7	55636	genome.wustl.edu	37	chr8	61778006	61778006	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttctagtcaaggagaaccGgaagacagcacttcaaaagg	15	6	11	9	1	3	2	2	0	1	2	3	4	3	3	1	3	2	2	1	3	6	3	rs371399850		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:61778006G>T	ENST00000423902.2	+	38	8987	c.8508G>T	c.(8506-8508)ccG>ccT	p.P2836P	CHD7_ENST00000524602.1_Silent_p.P787P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2836					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGGAGAACCGGAAGACAGCA	0.507																																																	0													74	75	75					8																	61778006		2005	4171	6176	SO:0001819	synonymous_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"CHARGE association"	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8508G>T	8.37:g.61778006G>T			D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P2836	ENST00000423902.2	37	c.8508	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.507	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	-	0	32	0	G	XM_098762		61778006	1	tier1	-	no_errors	ENST00000423902	ensembl	human	known	74_37	silent	34.15	27	14	SNP	0.841	T	T	61778006	G	T	61778006	2	4	85	1	0	0	0	0	0	0	0	1	3337	1103	39	2		2	CHD7	8	61778006	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	18740608	61778006	84586016	147	22697											
PRDM14	63978	genome.wustl.edu	37	chr8	70981446	70981446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcgcatggtgcaggctgGctgggtgctccaggctggga	7	8	17	9	1	0	0	0	0	0	0	2	1	1	1	1	6	2	6	1	6	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:70981446G>A	ENST00000276594.2	-	2	851	c.650C>T	c.(649-651)gCc>gTc	p.A217V		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	217					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTGCAGGCTGGCTGGGTGCTC	0.602																																					NSCLC(129;99 1813 5906 40656 46114)												0													77	81	79					8																	70981446		2203	4300	6503	SO:0001583	missense	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.650C>T	8.37:g.70981446G>A	ENSP00000276594:p.Ala217Val		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A217V	ENST00000276594.2	37	c.650	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602157	0.66445	.	.	ENSG00000147596	ENST00000276594	T	0.11604	2.76	5.2	2.15	0.27550	.	0.719839	0.13245	N	0.402558	T	0.12475	0.0303	M	0.65975	2.015	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.19976	-1.0289	10	0.66056	D	0.02	-2.1385	6.4049	0.21658	0.1829:0.1477:0.6694:0.0	.	217	Q9GZV8	PRD14_HUMAN	V	217	ENSP00000276594:A217V	ENSP00000276594:A217V	A	-	2	0	PRDM14	71144000	0.012000	0.17670	0.002000	0.10522	0.608000	0.37181	1.264000	0.33015	0.690000	0.31570	0.655000	0.94253	GCC	PRDM14	-	NULL	ENSG00000147596		0.602	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1		0	50	0	G			70981446	-1			no_errors	ENST00000276594	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.002	A	A	70981446	G	A	70981446	3	1	85	1	0	0	0	0	1	0	0	0	12497	1203	42	3	1093	3	PRDM14	8	70981446	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	9203440	70981446	75382576	148	22698											
RIPK2	8767	genome.wustl.edu	37	chr8	90801591	90801591	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagctgcatcactgtcCtggaaatcacagttgggata	12	11	10	8	0	2	1	2	1	0	0	3	3	3	3	1	2	2	3	1	2	4	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:90801591C>G	ENST00000220751.4	+	10	1480	c.1166C>G	c.(1165-1167)cCt>cGt	p.P389R	RIPK2_ENST00000540020.1_Missense_Mutation_p.P252R	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	389					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CATCACTGTCCTGGAAATCAC	0.393																																																	0													145	135	138					8																	90801591		2203	4300	6503	SO:0001583	missense	0			AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1166C>G	8.37:g.90801591C>G	ENSP00000220751:p.Pro389Arg		B7Z748|Q6UWF0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom	p.P389R	ENST00000220751.4	37	c.1166	CCDS6247.1	8	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707092	0.30232	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80824	-1.19;-1.42	5.89	3.13	0.36017	.	0.561140	0.14981	N	0.287255	T	0.63046	0.2478	N	0.19112	0.55	0.09310	N	1	B	0.25521	0.128	B	0.18263	0.021	T	0.53795	-0.8388	10	0.51188	T	0.08	-0.1049	3.9433	0.09338	0.1755:0.5944:0.0:0.2301	.	389	O43353	RIPK2_HUMAN	R	389;252	ENSP00000220751:P389R;ENSP00000441623:P252R	ENSP00000220751:P389R	P	+	2	0	RIPK2	90870732	0.000000	0.05858	0.001000	0.08648	0.126000	0.20510	0.324000	0.19610	0.825000	0.34637	0.655000	0.94253	CCT	RIPK2	-	pirsf_Rcpt-int_Ser/Thr_kinase-2	ENSG00000104312		0.393	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK2	HGNC	protein_coding	OTTHUMT00000375686.1	-	0	44	0	C			90801591	1	tier1	-	no_errors	ENST00000220751	ensembl	human	known	74_37	missense	26.67	33	12	SNP	0.000	G	G	90801591	C	G	90801591	3	3	85	1	0	0	0	0	1	0	0	0	13426	681	24	5	1204	5	RIPK2	8	90801591	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	19820145	90801591	55562431	149	22699											
RUNX1T1	862	genome.wustl.edu	37	chr8	92998435	92998435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctttttttaagtcctcgGcgtcactgtaccgccggatc	6	13	8	14	4	1	0	1	0	0	0	4	1	2	1	4	2	1	1	4	2	2	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:92998435G>T	ENST00000523629.1	-	9	1650	c.1196C>A	c.(1195-1197)gCc>gAc	p.A399D	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A372D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A410D|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A399D|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A362D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A362D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A362D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A372D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	399					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A410V(1)|p.A399V(1)|p.A362V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TAAGTCCTCGGCGTCACTGTA	0.512																																																	3	Substitution - Missense(3)	skin(3)											105	109	108					8																	92998435		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1196C>A	8.37:g.92998435G>T	ENSP00000428543:p.Ala399Asp		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A410D	ENST00000523629.1	37	c.1229	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924521	0.92319	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.67	5.67	0.87782	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.44542	1.39	0.80722	D	1	B;B;P	0.52577	0.399;0.372;0.954	B;B;P	0.58331	0.206;0.216;0.837	T	0.45145	-0.9281	10	0.37606	T	0.19	-15.8922	19.773	0.96379	0.0:0.0:1.0:0.0	.	410;399;372	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	D	399;372;399;362;362;362;410;372	ENSP00000428543:A399D;ENSP00000379520:A372D;ENSP00000265814:A399D;ENSP00000353504:A362D;ENSP00000390137:A362D;ENSP00000428742:A362D;ENSP00000402257:A410D;ENSP00000430728:A372D	ENSP00000265814:A399D	A	-	2	0	RUNX1T1	93067611	1.000000	0.71417	0.844000	0.33320	0.969000	0.65631	7.636000	0.83301	2.677000	0.91161	0.655000	0.94253	GCC	RUNX1T1	-	pfam_NHR2	ENSG00000079102		0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3		0	40	0	G	NM_004349, NM_175635		92998435	-1			no_errors	ENST00000436581	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	92998435	G	T	92998435	3	4	85	1	0	0	0	0	1	0	0	0	13792	1203	42	3	634	3	RUNX1T1	8	92998435	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2196844	92998435	53365587	150	22700											
VPS13B	157680	genome.wustl.edu	37	chr8	100147953	100147953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttatcttggattcaactCatcataaggttagagaatat	15	15	6	5	0	4	1	3	0	1	1	4	3	4	2	0	2	1	1	0	2	7	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:100147953C>T	ENST00000358544.2	+	11	1666	c.1555C>T	c.(1555-1557)Cat>Tat	p.H519Y	VPS13B_ENST00000355155.1_Missense_Mutation_p.H519Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.H519Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.H519Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	519					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGATTCAACTCATCATAAGGT	0.338																																					Colon(161;2205 2542 7338 31318)												0													74	68	70					8																	100147953		2203	4299	6502	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1555C>T	8.37:g.100147953C>T	ENSP00000351346:p.His519Tyr		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.H519Y	ENST00000358544.2	37	c.1555	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866127	0.02590	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.75821	-0.97;-0.28;-0.27;0.02	5.36	3.53	0.40419	.	0.359596	0.26800	N	0.022432	T	0.52645	0.1747	N	0.19112	0.55	0.32425	N	0.548858	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.48714	-0.9011	10	0.11794	T	0.64	.	6.4094	0.21682	0.1435:0.6601:0.1245:0.0719	.	519;519;519;519	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	Y	519	ENSP00000347281:H519Y;ENSP00000349685:H519Y;ENSP00000351346:H519Y;ENSP00000379318:H519Y	ENSP00000347281:H519Y	H	+	1	0	VPS13B	100217129	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.866000	0.48420	0.723000	0.32274	0.655000	0.94253	CAT	VPS13B	-	NULL	ENSG00000132549		0.338	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	43	0	C	NM_184042		100147953	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	36.76	43	25	SNP	0.998	T	T	100147953	C	T	100147953	3	4	85	1	0	0	0	0	1	0	0	0	17239	826	29	3	1635	3	VPS13B	8	100147953	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7149518	100147953	46216069	151	22701											
RIMS2	9699	genome.wustl.edu	37	chr8	105257203	105257203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagaaacaggcctggccGtggaaatgaggaactggatg	13	6	15	7	1	0	2	0	1	0	1	0	5	0	5	2	5	3	1	2	5	4	1	rs377163259		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:105257203G>T	ENST00000436393.2	+	24	3689	c.3448G>T	c.(3448-3450)Gtg>Ttg	p.V1150L	RIMS2_ENST00000406091.3_Missense_Mutation_p.V1132L|RIMS2_ENST00000507740.1_Missense_Mutation_p.V946L|RIMS2_ENST00000339750.2_Missense_Mutation_p.V68L|RIMS2_ENST00000262231.10_Missense_Mutation_p.V971L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1194					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCCTGGCCGTGGAAATGAG	0.463										HNSCC(12;0.0054)																																							0													129	136	133					8																	105257203		2019	4182	6201	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3448G>T	8.37:g.105257203G>T	ENSP00000390665:p.Val1150Leu		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.V1132L	ENST00000436393.2	37	c.3394		8	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407092	0.62399	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.20200	2.68;2.38;2.38;2.11;2.56;2.11;2.09	5.05	5.05	0.67936	.	.	.	.	.	T	0.18676	0.0448	L	0.43152	1.355	0.58432	D	0.999995	B;P;B;B;B	0.34955	0.3;0.477;0.247;0.08;0.029	B;B;B;B;B	0.25506	0.058;0.054;0.058;0.061;0.061	T	0.03576	-1.1023	9	0.27785	T	0.31	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	1194;1150;971;946;1132	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	L	1169;1132;1194;971;946;1139;1150;68;68	ENSP00000384892:V1132L;ENSP00000262231:V971L;ENSP00000423559:V946L;ENSP00000386228:V1139L;ENSP00000390665:V1150L;ENSP00000428478:V68L;ENSP00000342051:V68L	ENSP00000262231:V971L	V	+	1	0	RIMS2	105326379	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.807000	0.86032	2.623000	0.88846	0.650000	0.86243	GTG	RIMS2	-	NULL	ENSG00000176406		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1		0	19	0	G	NM_001100117		105257203	1			no_errors	ENST00000406091	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	105257203	G	T	105257203	3	4	85	1	0	0	0	0	1	0	0	0	13413	1145	40	2	3668	2	RIMS2	8	105257203	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	5109250	105257203	41106819	152	22702											
CSMD3	114788	genome.wustl.edu	37	chr8	113678558	113678558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcttcaatcacccactCacaattcaaagagtctttgt	12	13	4	12	0	6	1	5	0	1	1	6	1	6	1	1	0	1	1	1	0	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:113678558C>T	ENST00000297405.5	-	17	3008	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E922K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E882K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E818K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	922	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCACCCACTCACAATTCAAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													66	63	64					8																	113678558		2203	4299	6502	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2764G>A	8.37:g.113678558C>T	ENSP00000297405:p.Glu922Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E922K	ENST00000297405.5	37	c.2764	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.243635	0.95272	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2	5.97	5.97	0.96955	CUB (5);	0.000000	0.64402	D	0.000001	T	0.65523	0.2699	L	0.33189	0.99	0.49915	D	0.999836	D;D;P	0.76494	0.999;0.999;0.934	D;D;P	0.87578	0.997;0.998;0.888	T	0.54523	-0.8281	10	0.06494	T	0.89	.	20.4301	0.99081	0.0:1.0:0.0:0.0	.	818;922;882	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	882;922;262;818;922	ENSP00000345799:E882K;ENSP00000297405:E922K;ENSP00000341558:E262K;ENSP00000412263:E818K;ENSP00000343124:E922K	ENSP00000297405:E922K	E	-	1	0	CSMD3	113747734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.834000	0.97654	0.557000	0.71058	GAG	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	74	0	C	NM_052900		113678558	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	15.24	89	16	SNP	1.000	T	T	113678558	C	T	113678558	3	4	85	1	0	0	0	0	1	0	0	0	3955	835	29	3	8579	3	CSMD3	8	113678558	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	8421355	113678558	32685464	153	22703											
ZFAT	57623	genome.wustl.edu	37	chr8	135614789	135614789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccctcgtcatcaggcaGagctcgtccaaggcctcttt	6	10	8	17	2	3	1	2	0	1	1	7	1	5	1	4	2	1	2	4	2	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr8:135614789G>A	ENST00000377838.3	-	6	1347	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	ZFAT_ENST00000520727.1_Silent_p.L379L|ZFAT_ENST00000429442.2_Silent_p.L379L|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Silent_p.L379L|ZFAT_ENST00000520356.1_Silent_p.L379L|ZFAT_ENST00000523399.1_Silent_p.L329L	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	391					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCATCAGGCAGAGCTCGTCCA	0.557																																																	0													62	64	63					8																	135614789		2087	4219	6306	SO:0001819	synonymous_variant	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1173C>T	8.37:g.135614789G>A			B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L391	ENST00000377838.3	37	c.1173	CCDS47924.1	8																																																																																			ZFAT	-	NULL	ENSG00000066827		0.557	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	-	0	21	0	G	NM_001029939		135614789	-1	tier1	-	no_errors	ENST00000377838	ensembl	human	known	74_37	silent	32.35	23	11	SNP	0.581	A	A	135614789	G	A	135614789	2	1	85	1	0	0	0	0	0	0	0	1	17680	929	33	3		3	ZFAT	8	135614789	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	21936231	135614789	10749233	154	22704											
PIGO	84720	genome.wustl.edu	37	chr9	35094020	35094020	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcccattcaccactgtcCactgtgaaggggagaacact	11	8	9	13	1	1	2	1	1	0	1	3	3	3	2	3	2	1	0	3	2	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr9:35094020C>T	ENST00000378617.3	-	4	1051	c.657G>A	c.(655-657)atG>atA	p.M219I	PIGO_ENST00000341666.3_Splice_Site_p.M219I|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000361778.2_Splice_Site_p.M219I|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000298004.5_Splice_Site_p.M219I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	219					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACCACTGTCCACTGTGAAGG	0.552																																																	0													91	73	79					9																	35094020		2203	4300	6503	SO:0001630	splice_region_variant	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"Phosphatidylinositol glycan anchor biosynthesis"	23215	protein-coding gene	gene with protein product		614730	"phosphatidylinositol glycan, class O"			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.656-1G>A	9.37:g.35094020C>T			B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.M219I	ENST00000378617.3	37	c.657	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727350	0.69074	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.84	5.84	0.93424	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.281286	0.43260	D	0.000593	T	0.26882	0.0658	L	0.38733	1.17	0.80722	D	1	B;B	0.15141	0.012;0.003	B;B	0.20955	0.032;0.007	T	0.02263	-1.1186	10	0.48119	T	0.1	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	219;219	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	I	219	ENSP00000298004:M219I;ENSP00000367880:M219I;ENSP00000339382:M219I;ENSP00000354678:M219I	ENSP00000298004:M219I	M	-	3	0	PIGO	35084020	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.960000	0.70348	2.779000	0.95612	0.655000	0.94253	ATG	PIGO	-	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	ENSG00000165282		0.552	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	-	0	40	0	C	NM_032634	Missense_Mutation	35094020	-1	tier1	-	no_errors	ENST00000341666	ensembl	human	known	74_37	missense	39.66	35	23	SNP	1.000	T	T	35094020	C	T	35094020	5	4	85	1	0	0	0	0	0	0	1	0	11933	608	21	3	2644	3	PIGO	9	35094020	Splice_Site	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09		35094020	106119411	155	22705											
TLN1	7094	genome.wustl.edu	37	chr9	35700035	35700035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggccatagtgcagggctCgaagccgcacatcaggggcc	8	4	14	15	3	1	0	1	0	0	0	2	1	1	0	4	4	2	3	4	4	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr9:35700035C>T	ENST00000314888.9	-	50	7057	c.6704G>A	c.(6703-6705)cGa>cAa	p.R2235Q	TLN1_ENST00000540444.1_Missense_Mutation_p.R2123Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2235					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCAGGGCTCGAAGCCGCAC	0.567																																																	0													78	77	78					9																	35700035		2203	4300	6503	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6704G>A	9.37:g.35700035C>T	ENSP00000316029:p.Arg2235Gln		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.R2235Q	ENST00000314888.9	37	c.6704	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.594747	0.96602	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.69040	-0.37;-0.36	5.37	5.37	0.77165	.	0.062767	0.64402	D	0.000006	T	0.68366	0.2993	M	0.81341	2.54	0.80722	D	1	D	0.63046	0.992	B	0.37989	0.262	T	0.77487	-0.2569	10	0.66056	D	0.02	-5.0699	18.7269	0.91717	0.0:1.0:0.0:0.0	.	2235	Q9Y490	TLN1_HUMAN	Q	2235;2123	ENSP00000316029:R2235Q;ENSP00000442981:R2123Q	ENSP00000316029:R2235Q	R	-	2	0	TLN1	35690035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.774000	0.85478	2.516000	0.84829	0.655000	0.94253	CGA	TLN1	-	NULL	ENSG00000137076		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	29	0	C	NM_006289		35700035	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	52.78	17	19	SNP	1.000	T	T	35700035	C	T	35700035	3	4	85	1	0	0	0	0	1	0	0	0	15994	884	31	1	953	1	TLN1	9	35700035	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	606015	35700035	105513396	156	22706											
USP6NL	9712	genome.wustl.edu	37	chr10	11505072	11505072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgggcttccccatctaGctgggacggatatcgtgcat	6	10	11	14	3	1	0	0	0	1	0	4	2	2	2	3	3	2	3	3	3	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:11505072G>T	ENST00000609104.1	-	15	2249	c.1855C>A	c.(1855-1857)Cta>Ata	p.L619I	USP6NL_ENST00000379237.2_Missense_Mutation_p.L642I|USP6NL_ENST00000277575.5_Missense_Mutation_p.L636I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	619					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCCCATCTAGCTGGGACGGA	0.522																																																	0													60	59	59					10																	11505072		1936	4140	6076	SO:0001583	missense	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1855C>A	10.37:g.11505072G>T	ENSP00000476462:p.Leu619Ile		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L642I	ENST00000609104.1	37	c.1924	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	G	9.343	1.063591	0.20067	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04015	3.73;3.74	5.92	-11.8	0.00035	.	0.938895	0.08883	N	0.879740	T	0.02807	0.0084	L	0.36672	1.1	0.09310	N	1	B;B	0.18610	0.017;0.029	B;B	0.13407	0.004;0.009	T	0.32587	-0.9901	10	0.20519	T	0.43	.	7.6134	0.28144	0.6225:0.1223:0.187:0.0682	.	619;636	Q92738;Q92738-2	US6NL_HUMAN;.	I	619;636;619	ENSP00000277575:L636I;ENSP00000368539:L619I	ENSP00000277575:L636I	L	-	1	2	USP6NL	11545078	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.976000	0.03786	-2.228000	0.00721	0.467000	0.42956	CTA	USP6NL	-	NULL	ENSG00000148429		0.522	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	-	0	42	0	G	NM_014688		11505072	-1	tier1	-	no_errors	ENST00000379237	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.000	T	T	11505072	G	T	11505072	3	4	85	1	0	0	0	0	1	0	0	0	17136	962	34	3	635	3	USP6NL	10	11505072	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		11505072	124029675	157	22707											
STAM	8027	genome.wustl.edu	37	chr10	17737170	17737170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagttcgtgctatatatGactttgaagctgctgaagac	13	12	10	6	1	0	4	0	3	0	1	1	5	0	4	0	0	3	4	0	0	7	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:17737170G>T	ENST00000377524.3	+	7	873	c.658G>T	c.(658-660)Gac>Tac	p.D220Y	RP11-390B4.3_ENST00000445235.1_RNA|STAM_ENST00000540523.1_Missense_Mutation_p.D109Y	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	220	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGCTATATATGACTTTGAAGC	0.363																																																	0													110	101	104					10																	17737170		2203	4300	6503	SO:0001583	missense	0			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.658G>T	10.37:g.17737170G>T	ENSP00000366746:p.Asp220Tyr		B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.D220Y	ENST00000377524.3	37	c.658	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	G	30	5.051861	0.93793	.	.	ENSG00000136738	ENST00000377524;ENST00000377500;ENST00000540523	T;T	0.67698	-0.28;-0.28	5.88	5.88	0.94601	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	D	0.89608	0.6764	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92705	0.6178	10	0.87932	D	0	-24.0441	20.2187	0.98312	0.0:0.0:1.0:0.0	.	220	Q92783	STAM1_HUMAN	Y	220;123;109	ENSP00000366746:D220Y;ENSP00000438073:D109Y	ENSP00000366721:D123Y	D	+	1	0	STAM	17777176	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GAC	STAM	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000136738		0.363	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	-	0	71	0	G	NM_003473		17737170	1	tier1	-	no_errors	ENST00000377524	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	T	T	17737170	G	T	17737170	3	4	85	1	0	0	0	0	1	0	0	0	15295	1290	45	3	684	3	STAM	10	17737170	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	6232098	17737170	117797577	158	22708											
PARD3	56288	genome.wustl.edu	37	chr10	34400148	34400148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgaagtctgttcagcctCgcaacctgagaaggggaggg	9	8	15	9	1	3	2	1	2	2	1	4	4	3	3	2	3	2	2	2	3	3	1	rs533880946		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:34400148C>T	ENST00000374789.3	-	25	4345	c.4020G>A	c.(4018-4020)gcG>gcA	p.A1340A	PARD3_ENST00000350537.4_Silent_p.A1294A|PARD3_ENST00000545260.1_Silent_p.A1250A|PARD3_ENST00000545693.1_Silent_p.A1324A|PARD3_ENST00000374794.3_Silent_p.A1228A|PARD3_ENST00000374790.3_Silent_p.A1280A|PARD3_ENST00000374788.3_Silent_p.A1337A|PARD3_ENST00000346874.4_Silent_p.A1303A	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1340					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTTCAGCCTCGCAACCTGAG	0.537																																																	0													47	52	50					10																	34400148		2203	4300	6503	SO:0001819	synonymous_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.4020G>A	10.37:g.34400148C>T			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A1340	ENST00000374789.3	37	c.4020	CCDS7178.1	10																																																																																			PARD3	-	NULL	ENSG00000148498		0.537	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0	47	0	C	NM_019619		34400148	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	silent	13.43	58	9	SNP	0.576	T	T	34400148	C	T	34400148	2	4	85	1	0	0	0	0	0	0	0	1	11482	871	31	1		1	PARD3	10	34400148	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	16662978	34400148	101134599	159	22709											
PARD3	56288	genome.wustl.edu	37	chr10	34649188	34649188	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatcctcatcttctgctttCtaatagggaacaaaattgca	13	14	5	9	0	4	0	1	0	3	0	5	1	5	1	1	1	3	2	1	1	6	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:34649188C>G	ENST00000374789.3	-	13	2033		c.e13-1		PARD3_ENST00000340077.5_Splice_Site|PARD3_ENST00000350537.4_Splice_Site|PARD3_ENST00000545260.1_Splice_Site|PARD3_ENST00000545693.1_Splice_Site|PARD3_ENST00000374776.1_Splice_Site|PARD3_ENST00000544292.1_Splice_Site|PARD3_ENST00000374794.3_Splice_Site|PARD3_ENST00000374768.1_Splice_Site|PARD3_ENST00000374790.3_Splice_Site|PARD3_ENST00000374773.1_Splice_Site|PARD3_ENST00000374788.3_Splice_Site|PARD3_ENST00000346874.4_Splice_Site	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator						apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTTCTGCTTTCTAATAGGGAA	0.388																																																	0													87	78	81					10																	34649188		2203	4300	6503	SO:0001630	splice_region_variant	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1708-1G>C	10.37:g.34649188C>G			F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Splice_Site	SNP	-	e13-1	ENST00000374789.3	37	c.1708-1	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327469	0.81690	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0951	0.97834	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARD3	34689194	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.487000	0.81328	2.753000	0.94483	0.467000	0.42956	.	PARD3	-	-	ENSG00000148498		0.388	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	-	0	22	0	C	NM_019619	Intron	34649188	-1	tier1	-	no_errors	ENST00000374789	ensembl	human	known	74_37	splice_site	14.71	29	5	SNP	1.000	G	G	34649188	C	G	34649188	5	3	85	1	0	0	0	0	0	0	1	0	11482	927	32	5	2450	5	PARD3	10	34649188	Splice_Site	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	249040	34649188	100885559	160	22710											
SIRT1	23411	genome.wustl.edu	37	chr10	69666547	69666547	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctaccatttgcttgatacagGaaatatatcctggacaattc	13	13	6	9	0	0	1	0	1	0	0	2	3	1	3	2	2	3	1	2	2	6	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:69666547G>A	ENST00000212015.6	+	5	996	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	SIRT1_ENST00000403579.1_Splice_Site_p.E12K|SIRT1_ENST00000406900.1_Splice_Site_p.E12K|SIRT1_ENST00000432464.1_Splice_Site_p.E20K	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	315	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Interaction with CCAR2.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E315*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CTTGATACAGGAAATATATCC	0.328																																																	1	Substitution - Nonsense(1)	large_intestine(1)											61	63	62					10																	69666547		2203	4300	6503	SO:0001630	splice_region_variant	0			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.943-1G>A	10.37:g.69666547G>A			Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.E315K	ENST00000212015.6	37	c.943	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828688	0.90955	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.43122	0.1233	M	0.73319	2.225	0.80722	D	1	P;D	0.89917	0.944;1.0	D;D	0.79108	0.928;0.992	T	0.19910	-1.0291	9	.	.	.	-17.377	18.5847	0.91185	0.0:0.0:1.0:0.0	.	12;315	B0QZ35;Q96EB6	.;SIRT1_HUMAN	K	315;20;12;12	ENSP00000212015:E315K;ENSP00000409208:E20K;ENSP00000384508:E12K;ENSP00000384063:E12K	.	E	+	1	0	SIRT1	69336553	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	9.402000	0.97298	2.480000	0.83734	0.585000	0.79938	GAA	SIRT1	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000096717		0.328	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1		0	27	0	G		Missense_Mutation	69666547	1			no_errors	ENST00000212015	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	A	A	69666547	G	A	69666547	5	1	85	1	0	0	0	0	0	0	1	0	14382	1188	41	3	961	3	SIRT1	10	69666547	Splice_Site	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	35017359	69666547	65868200	161	22711											
POLR3A	11128	genome.wustl.edu	37	chr10	79778932	79778932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagattaccttttcatctgcGtatgtctctgctgaatgaag	10	15	8	8	1	3	3	1	2	2	1	4	3	3	3	1	0	3	2	1	0	5	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:79778932G>A	ENST00000372371.3	-	9	1414	c.1277C>T	c.(1276-1278)aCg>aTg	p.T426M	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	426					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTCATCTGCGTATGTCTCTG	0.428																																																	0													179	158	165					10																	79778932		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1277C>T	10.37:g.79778932G>A	ENSP00000361446:p.Thr426Met		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.T426M	ENST00000372371.3	37	c.1277	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336080	0.24253	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68181	-0.31	5.64	-0.401	0.12407	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.365631	0.33515	N	0.004825	T	0.64349	0.2590	M	0.81341	2.54	0.21527	N	0.999651	B	0.27853	0.191	B	0.30572	0.117	T	0.57820	-0.7745	9	.	.	.	-5.7362	10.7207	0.46038	0.4491:0.0:0.5509:0.0	.	426	O14802	RPC1_HUMAN	M	426	ENSP00000361446:T426M	.	T	-	2	0	POLR3A	79448938	0.791000	0.28800	0.003000	0.11579	0.777000	0.43975	1.116000	0.31221	0.027000	0.15297	0.650000	0.86243	ACG	POLR3A	-	pfam_RNA_pol_asu,smart_RNA_pol_N	ENSG00000148606		0.428	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1		0	40	0	G	NM_007055		79778932	-1			no_errors	ENST00000372371	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.004	A	A	79778932	G	A	79778932	3	1	85	1	0	0	0	0	1	0	0	0	12267	1145	40	1	2987	1	POLR3A	10	79778932	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	10112385	79778932	55755815	162	22712											
KIF20B	9585	genome.wustl.edu	37	chr10	91478507	91478507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgggaaagtaaactgactCactattttcaaagttttttt	12	16	6	7	1	2	1	2	1	0	0	3	2	3	2	1	1	1	2	1	1	5	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:91478507C>T	ENST00000371728.3	+	12	1377	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	KIF20B_ENST00000394289.2_Missense_Mutation_p.H438Y|KIF20B_ENST00000416354.1_Missense_Mutation_p.H438Y|KIF20B_ENST00000260753.4_Missense_Mutation_p.H438Y	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	438	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TAAACTGACTCACTATTTTCA	0.313																																																	0													60	63	62					10																	91478507		2202	4296	6498	SO:0001583	missense	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"cancer/testis antigen 90"	605498	"M-phase phosphoprotein 1"	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1312C>T	10.37:g.91478507C>T	ENSP00000360793:p.His438Tyr		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H438Y	ENST00000371728.3	37	c.1312		10	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768046	0.90020	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.51	5.51	0.81932	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000045	T	0.79341	0.4429	N	0.20328	0.56	0.80722	D	1	D;B	0.71674	0.998;0.073	D;B	0.76071	0.987;0.31	T	0.82139	-0.0605	10	0.87932	D	0	-9.7804	19.7654	0.96337	0.0:1.0:0.0:0.0	.	438;438	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	Y	438	ENSP00000260753:H438Y;ENSP00000411545:H438Y;ENSP00000377830:H438Y;ENSP00000360793:H438Y	ENSP00000260753:H438Y	H	+	1	0	KIF20B	91468487	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.462000	0.60121	2.750000	0.94351	0.655000	0.94253	CAC	KIF20B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000138182		0.313	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	-	0	61	0	C	NM_016195		91478507	1	tier1	-	no_errors	ENST00000416354	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	T	T	91478507	C	T	91478507	3	4	85	1	0	0	0	0	1	0	0	0	8314	826	29	3	1354	3	KIF20B	10	91478507	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	11699575	91478507	44056240	163	22713											
CPEB3	22849	genome.wustl.edu	37	chr10	94000046	94000046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggggctgctgctgctgcCgctgctgctgctggggctgg	0	11	19	11	1	0	0	0	0	0	0	0	0	0	0	1	5	7	10	1	5	0	1	rs552534752	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:94000046C>T	ENST00000265997.4	-	2	234	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	CPEB3_ENST00000412050.4_Missense_Mutation_p.R21Q	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	21	Gln-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ctgctgctgccgctgctgctg	0.602																																																	0													7	7	7					10																	94000046		1874	3746	5620	SO:0001583	missense	0			AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"RNA binding motif (RRM) containing"	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.62G>A	10.37:g.94000046C>T	ENSP00000265997:p.Arg21Gln		Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R21Q	ENST00000265997.4	37	c.62	CCDS31246.1	10	.	.	.	.	.	.	.	.	.	.	C	3.741	-0.053655	0.07362	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.40225	1.04;1.04	4.47	-4.3	0.03710	.	0.575829	0.16183	N	0.225749	T	0.17831	0.0428	N	0.11427	0.14	0.23483	N	0.997588	B;B;B	0.17038	0.02;0.001;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.31806	-0.9930	10	0.09590	T	0.72	0.057	12.6075	0.56531	0.0:0.4182:0.0:0.5818	.	21;21;21	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	Q	21	ENSP00000398310:R21Q;ENSP00000265997:R21Q	ENSP00000265997:R21Q	R	-	2	0	CPEB3	93990026	1.000000	0.71417	0.846000	0.33378	0.756000	0.42949	1.276000	0.33156	-0.700000	0.05070	-1.063000	0.02288	CGG	CPEB3	-	NULL	ENSG00000107864		0.602	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPEB3	HGNC	protein_coding	OTTHUMT00000049387.2		0	59	0	C	NM_014912		94000046	-1			no_errors	ENST00000265997	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.457	T	T	94000046	C	T	94000046	3	4	85	1	0	0	0	0	1	0	0	0	3809	652	23	1	2097	1	CPEB3	10	94000046	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2521539	94000046	41534701	164	22714											
MYOF	26509	genome.wustl.edu	37	chr10	95079771	95079771	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcattgccaggaatccagCtgaaaggcagaggcaaacag	14	6	11	10	0	1	2	1	1	0	1	2	3	2	3	2	3	3	3	2	3	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:95079771C>A	ENST00000359263.4	-	49	5456		c.e49-1		MYOF_ENST00000371501.4_Splice_Site|MYOF_ENST00000358334.5_Splice_Site|MYOF_ENST00000371502.4_Splice_Site	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin						blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGGAATCCAGCTGAAAGGCAG	0.413																																																	0													90	80	83					10																	95079771		1916	4123	6039	SO:0001630	splice_region_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5457-1G>T	10.37:g.95079771C>A			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Splice_Site	SNP	-	e49-1	ENST00000359263.4	37	c.5457-1	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624235	0.87560	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2371	0.98361	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYOF	95069761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.788000	0.95919	0.555000	0.69702	.	MYOF	-	-	ENSG00000138119		0.413	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	-	0	30	0	C	NM_013451	Intron	95079771	-1	tier1	-	no_errors	ENST00000359263	ensembl	human	known	74_37	splice_site	11.76	30	4	SNP	1.000	A	A	95079771	C	A	95079771	5	1	85	1	0	0	0	0	0	0	1	0	10127	811	28	3	753	3	MYOF	10	95079771	Splice_Site	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1079725	95079771	40454976	165	22715											
SORBS1	10580	genome.wustl.edu	37	chr10	97194456	97194456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagaaatagagcgtgcgCgtaaagggtcggcagttgct	11	7	15	8	4	0	2	0	0	0	2	1	2	0	2	0	2	4	5	0	2	4	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:97194456C>A	ENST00000361941.3	-	3	121	c.95G>T	c.(94-96)cGc>cTc	p.R32L	SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.R32L|SORBS1_ENST00000347291.4_Missense_Mutation_p.R32L|SORBS1_ENST00000371247.2_Missense_Mutation_p.R32L|SORBS1_ENST00000393949.1_Missense_Mutation_p.R32L|SORBS1_ENST00000306402.6_Missense_Mutation_p.R32L|SORBS1_ENST00000371246.2_Missense_Mutation_p.R32L|SORBS1_ENST00000371227.4_Missense_Mutation_p.R32L|SORBS1_ENST00000354106.3_Missense_Mutation_p.R32L|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R32L|SORBS1_ENST00000371245.3_Missense_Mutation_p.R32L|SORBS1_ENST00000607232.1_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.R32H(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGAGCGTGCGCGTAAAGGGTC	0.483																																																	2	Substitution - Missense(2)	endometrium(2)											90	88	89					10																	97194456		2203	4300	6503	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.95G>T	10.37:g.97194456C>A	ENSP00000355136:p.Arg32Leu			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.R32L	ENST00000361941.3	37	c.95	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	14.77	2.636077	0.47049	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T;T;T	0.10960	3.4;2.83;3.14;3.04;3.44;2.93;3.4;2.82;3.14;3.44;2.93	5.82	4.91	0.64330	.	0.000000	0.42964	D	0.000638	T	0.12433	0.0302	N	0.19112	0.55	0.18873	N	0.999989	P;D;P;B;P;D	0.61697	0.628;0.99;0.811;0.304;0.811;0.982	B;P;B;B;B;P	0.52856	0.203;0.711;0.309;0.062;0.229;0.686	T	0.08330	-1.0727	10	0.52906	T	0.07	-8.2186	11.7537	0.51863	0.0:0.8645:0.0:0.1355	.	32;32;32;32;32;32	Q9BX66-11;Q9BX66-9;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;SRBS1_HUMAN;.;.	L	32	ENSP00000360291:R32L;ENSP00000302556:R32L;ENSP00000360293:R32L;ENSP00000360271:R32L;ENSP00000360292:R32L;ENSP00000377521:R32L;ENSP00000343998:R32L;ENSP00000277985:R32L;ENSP00000355136:R32L;ENSP00000277982:R32L;ENSP00000277984:R32L	ENSP00000277982:R32L	R	-	2	0	SORBS1	97184446	1.000000	0.71417	0.959000	0.39883	0.515000	0.34225	2.143000	0.42187	2.767000	0.95098	0.655000	0.94253	CGC	SORBS1	-	NULL	ENSG00000095637		0.483	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1		0	31	0	C			97194456	-1			no_errors	ENST00000361941	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.985	A	A	97194456	C	A	97194456	3	1	85	1	0	0	0	0	1	0	0	0	14972	768	27	2	4096	2	SORBS1	10	97194456	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2114685	97194456	38340291	166	22716											
VWA2	340706	genome.wustl.edu	37	chr10	116045741	116045741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtcgacctcctcttcctGctggacagctctgcgggcac	5	9	12	15	2	2	0	0	0	2	0	5	2	4	1	3	3	3	3	3	3	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:116045741G>A	ENST00000392982.3	+	11	1291	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	VWA2_ENST00000603594.1_Silent_p.L347L			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	347	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TCCTCTTCCTGCTGGACAGCT	0.642																																																	0													69	65	66					10																	116045741		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1041G>A	10.37:g.116045741G>A			A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Silent	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.L347	ENST00000392982.3	37	c.1041		10																																																																																			VWA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000165816		0.642	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	-	0	44	0	G	NM_198496		116045741	1	tier1	-	no_errors	ENST00000392982	ensembl	human	known	74_37	silent	9.52	38	4	SNP	1.000	A	A	116045741	G	A	116045741	2	1	85	1	0	0	0	0	0	0	0	1	17288	1306	46	3		3	VWA2	10	116045741	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	18851285	116045741	19489006	167	22717											
KIAA1598	57698	genome.wustl.edu	37	chr10	118671344	118671344	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactttcgcagcctttcGaagattctggctataatttt	8	16	7	10	2	1	1	0	0	1	1	3	2	1	1	1	1	2	3	1	1	3	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:118671344G>T	ENST00000355371.4	-	14	1813	c.1316C>A	c.(1315-1317)tCg>tAg	p.S439*	KIAA1598_ENST00000260777.10_Nonsense_Mutation_p.S439*|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Nonsense_Mutation_p.S379*|KIAA1598_ENST00000392903.2_Nonsense_Mutation_p.S439*	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	439					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGCCTTTCGAAGATTCTGG	0.308																																																	0													69	71	70					10																	118671344		2203	4297	6500	SO:0001587	stop_gained	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1316C>A	10.37:g.118671344G>T	ENSP00000347532:p.Ser439*		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Nonsense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.S439*	ENST00000355371.4	37	c.1316	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.330400	0.95733	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	.	.	.	5.98	5.07	0.68467	.	1.073050	0.07073	N	0.835777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	0.7309	12.6396	0.56702	0.0768:0.0:0.9232:0.0	.	.	.	.	X	439;439;439;379	.	ENSP00000260777:S439X	S	-	2	0	KIAA1598	118661334	1.000000	0.71417	0.677000	0.29947	0.693000	0.40251	3.430000	0.52807	1.507000	0.48752	0.650000	0.86243	TCG	KIAA1598	-	NULL	ENSG00000187164		0.308	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding			0	32	0	G	NM_018330		118671344	-1			no_errors	ENST00000392903	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.918	T	T	118671344	G	T	118671344	4	4	85	1	0	0	0	0	0	1	0	0	8273	1059	37	2	595	2	KIAA1598	10	118671344	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2625603	118671344	16863403	168	22718											
MKI67	4288	genome.wustl.edu	37	chr10	129903622	129903622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgttttgcagtttccCtgaacacgttgatgccttta	6	18	8	9	1	1	2	0	2	1	0	2	2	2	2	2	0	3	5	2	0	2	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:129903622C>T	ENST00000368654.3	-	13	6857	c.6482G>A	c.(6481-6483)aGg>aAg	p.R2161K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1801K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2161	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCAGTTTCCCTGAACACGTT	0.498																																																	0													195	176	182					10																	129903622		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6482G>A	10.37:g.129903622C>T	ENSP00000357643:p.Arg2161Lys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R2161K	ENST00000368654.3	37	c.6482	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052450	0.01981	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01505	4.82;4.82	4.64	-9.29	0.00653	.	2.201100	0.02421	N	0.082616	T	0.00695	0.0023	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.002	T	0.41360	-0.9513	10	0.05959	T	0.93	.	8.8808	0.35374	0.5202:0.3594:0.0:0.1204	.	2160;1801;2161	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	2161;1801;2160	ENSP00000357643:R2161K;ENSP00000357642:R1801K	ENSP00000357642:R1801K	R	-	2	0	MKI67	129793612	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.027000	0.01433	-3.124000	0.00238	-1.541000	0.00910	AGG	MKI67	-	pfam_K167R	ENSG00000148773		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	46	0	C	NM_002417		129903622	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.000	T	T	129903622	C	T	129903622	3	4	85	1	0	0	0	0	1	0	0	0	9636	681	24	3	3300	3	MKI67	10	129903622	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	11232278	129903622	5631125	169	22719											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135098607	135098607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accactgggcggagtgcagcGagtgctgcttggcggttttg	5	10	17	9	3	0	0	0	0	0	0	0	2	0	1	1	4	4	4	1	4	0	3	rs561848773		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr10:135098607G>A	ENST00000252936.3	-	12	2045	c.2006C>T	c.(2005-2007)tCg>tTg	p.S669L	TUBGCP2_ENST00000368562.1_Missense_Mutation_p.S262L|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.S539L|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S697L|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.S669L			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	669					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGAGTGCAGCGAGTGCTGCTT	0.627													G|||	1	0.000199681	0	0	5008	,	,		17581	0		0.001	False		,,,				2504	0																0													114	84	95					10																	135098607		2203	4300	6503	SO:0001583	missense	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.2006C>T	10.37:g.135098607G>A	ENSP00000252936:p.Ser669Leu		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	pfam_TUBGCP,superfamily_Ocr	p.S697L	ENST00000252936.3	37	c.2090	CCDS7676.1	10	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384973	0.42308	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	5.43	5.43	0.79202	.	0.353030	0.30329	N	0.009879	T	0.09905	0.0243	L	0.55103	1.725	0.34865	D	0.743032	P;P;B	0.40250	0.661;0.709;0.339	B;B;B	0.36666	0.147;0.23;0.23	T	0.20240	-1.0281	10	0.09084	T	0.74	-6.9939	18.2118	0.89872	0.0:0.0:1.0:0.0	.	697;697;669	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	L	669;539;669;262;697	ENSP00000252936:S669L;ENSP00000395666:S539L;ENSP00000357551:S669L;ENSP00000357550:S262L;ENSP00000446093:S697L	ENSP00000252936:S669L	S	-	2	0	TUBGCP2	134948597	1.000000	0.71417	0.006000	0.13384	0.193000	0.23685	9.249000	0.95470	2.729000	0.93468	0.655000	0.94253	TCG	TUBGCP2	-	pfam_TUBGCP	ENSG00000130640		0.627	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0	87	0	G			135098607	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	missense	22.50	62	18	SNP	0.440	A	A	135098607	G	A	135098607	3	1	85	1	0	0	0	0	1	0	0	0	16815	1059	37	1	726	1	TUBGCP2	10	135098607	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	5194985	135098607	436140	170	22720											
LRDD	55367	genome.wustl.edu	37	chr11	804101	804101	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtggaactcacctttgagGaccagggagcggaggcagga	11	5	17	8	1	1	1	1	1	0	0	1	6	1	6	2	7	2	1	2	7	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:804101G>T	ENST00000347755.5	-	2	429	c.288C>A	c.(286-288)gtC>gtA	p.V96V	PIDD_ENST00000411829.2_Silent_p.V96V|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					CACCTTTGAGGACCAGGGAGC	0.622																																																	0													55	39	45					11																	804101		2201	4298	6499	SO:0001819	synonymous_variant	0																														ENST00000347755.5:c.288C>A	11.37:g.804101G>T				Silent	SNP	pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.V96	ENST00000347755.5	37	c.288	CCDS7716.1	11																																																																																			PIDD	-	NULL	ENSG00000177595		0.622	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000257103.1	-	0	57	0	G			804101	-1	tier1	-	no_errors	ENST00000347755	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.992	T	T	804101	G	T	804101	2	4	85	1	0	0	0	0	0	0	0	1	8971	1161	41	3		3	LRDD	11	804101	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		804101	134202415	171	22721											
CARS	833	genome.wustl.edu	37	chr11	3028157	3028157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgggcaggatgttgtcccGcagggcatcgctgagctgca	6	8	15	12	3	0	1	0	1	0	0	3	2	1	2	1	3	2	7	1	3	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:3028157G>A	ENST00000397111.5	-	18	2097	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.R618W|CARS_ENST00000401769.3_Missense_Mutation_p.R631W|CARS_ENST00000380525.4_Missense_Mutation_p.R701W|CARS_ENST00000397114.3_Missense_Mutation_p.R608W			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	618					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	ATGTTGTCCCGCAGGGCATCG	0.587			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													161	154	157					11																	3028157		2202	4298	6500	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1852C>T	11.37:g.3028157G>A	ENSP00000380300:p.Arg618Trp		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.R701W	ENST00000397111.5	37	c.2101	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614420	0.46631	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	4.42	3.49	0.39957	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.071181	0.56097	D	0.000025	D	0.86810	0.6022	M	0.93978	3.48	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.998;0.996;0.999;0.999;0.996	D	0.89228	0.3575	10	0.87932	D	0	-24.9277	12.2761	0.54735	0.0:0.0:0.8307:0.1693	.	631;701;618;618;701;608	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	W	701;618;618;608;631	ENSP00000369897:R701W;ENSP00000380300:R618W;ENSP00000278224:R618W;ENSP00000380303:R608W;ENSP00000384069:R631W	ENSP00000278224:R618W	R	-	1	2	CARS	2984733	1.000000	0.71417	0.999000	0.59377	0.161000	0.22273	2.739000	0.47409	1.051000	0.40369	0.462000	0.41574	CGG	CARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase	ENSG00000110619		0.587	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	-	0	22	0	G	NM_001751		3028157	-1	tier1	-	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A	A	3028157	G	A	3028157	3	1	85	1	0	0	0	0	1	0	0	0	2664	1086	38	1	422	1	CARS	11	3028157	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2224056	3028157	131978359	172	22722											
OR51A7	119687	genome.wustl.edu	37	chr11	4928760	4928760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattataaagacagagccctCgcttcatgagcccatgtatt	12	12	7	10	1	1	3	1	1	0	2	2	3	1	3	2	0	2	2	2	0	5	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:4928760C>T	ENST00000359350.4	+	1	161	c.161C>T	c.(160-162)tCg>tTg	p.S54L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGAGCCCTCGCTTCATGAG	0.493																																																	0													173	153	160					11																	4928760		2201	4298	6499	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.161C>T	11.37:g.4928760C>T	ENSP00000352305:p.Ser54Leu		Q6IFH8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S54L	ENST00000359350.4	37	c.161	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	c	5.501	0.277452	0.10403	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.00441	7.41	5.02	1.99	0.26369	GPCR, rhodopsin-like superfamily (1);	0.364747	0.20148	N	0.098228	T	0.00637	0.0021	M	0.91354	3.2	0.09310	N	1	P	0.42203	0.773	B	0.44085	0.44	T	0.39272	-0.9622	10	0.87932	D	0	.	4.3909	0.11339	0.1089:0.5469:0.1988:0.1454	.	54	Q8NH64	O51A7_HUMAN	L	54;54;43	ENSP00000352305:S54L	ENSP00000352305:S54L	S	+	2	0	OR51A7	4885336	0.000000	0.05858	0.200000	0.23457	0.031000	0.12232	0.205000	0.17356	0.318000	0.23185	-1.733000	0.00692	TCG	OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176895		0.493	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	-	0	59	0	C	NM_001004749		4928760	1	tier1	-	no_errors	ENST00000359350	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.000	T	T	4928760	C	T	4928760	3	4	85	1	0	0	0	0	1	0	0	0	11127	893	31	1	163	1	OR51A7	11	4928760	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1900603	4928760	130077756	173	22723											
ILK	3611	genome.wustl.edu	37	chr11	6631827	6631827	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgtgcctatccttgagaaGatgcaggacaagtaggactg	12	10	12	7	0	0	2	0	1	0	2	1	5	1	4	2	2	2	2	2	2	4	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:6631827G>C	ENST00000396751.2	+	12	1800	c.1344G>C	c.(1342-1344)aaG>aaC	p.K448N	ILK_ENST00000420936.2_Missense_Mutation_p.K448N|TAF10_ENST00000531760.1_5'Flank|ILK_ENST00000537806.1_Missense_Mutation_p.K314N|ILK_ENST00000528995.1_Missense_Mutation_p.K387N|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000299421.4_Missense_Mutation_p.K448N	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	448					branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		TCCTTGAGAAGATGCAGGACA	0.512																																																	0													85	87	86					11																	6631827		2201	4296	6497	SO:0001583	missense	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"Ankyrin repeat domain containing"	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.1344G>C	11.37:g.6631827G>C	ENSP00000379975:p.Lys448Asn		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K448N	ENST00000396751.2	37	c.1344	CCDS7768.1	11	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999738	0.54147	.	.	ENSG00000166333	ENST00000299421;ENST00000537806;ENST00000420936;ENST00000528995;ENST00000396751	T;D;T;T;T	0.83506	-1.33;-1.73;-1.33;-1.4;-1.33	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89825	0.6827	M	0.64630	1.985	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.71414	0.973;0.941	D	0.90423	0.4418	10	0.87932	D	0	.	18.1648	0.89722	0.0:0.0:1.0:0.0	.	387;448	B7Z418;Q13418	.;ILK_HUMAN	N	448;314;448;387;448	ENSP00000299421:K448N;ENSP00000439606:K314N;ENSP00000403487:K448N;ENSP00000435323:K387N;ENSP00000379975:K448N	ENSP00000299421:K448N	K	+	3	2	ILK	6588403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.452000	0.66638	2.753000	0.94483	0.650000	0.86243	AAG	ILK	-	superfamily_Kinase-like_dom,pirsf_Integrin-linked_kinase	ENSG00000166333		0.512	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1	-	0	40	0	G	NM_004517		6631827	1	tier1	-	no_errors	ENST00000299421	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	C	C	6631827	G	C	6631827	3	2	85	1	0	0	0	0	1	0	0	0	7740	933	33	5	1390	5	ILK	11	6631827	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1703067	6631827	128374689	174	22724											
WEE1	7465	genome.wustl.edu	37	chr11	9603162	9603162	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaaggatctccttttgCaagttggccgaggcttgagg	8	12	14	7	1	1	2	0	2	1	0	2	4	1	3	2	4	1	4	2	4	2	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:9603162C>T	ENST00000450114.2	+	6	1478	c.1225C>T	c.(1225-1227)Caa>Taa	p.Q409*	RN7SL56P_ENST00000470034.2_RNA|WEE1_ENST00000299613.6_Nonsense_Mutation_p.Q195*	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	409	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TCTCCTTTTGCAAGTTGGCCG	0.373																																																	0													103	104	104					11																	9603162		2201	4294	6495	SO:0001587	stop_gained	0			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1225C>T	11.37:g.9603162C>T	ENSP00000402084:p.Gln409*		B3KVE1|D3DQV0	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	p.Q409*	ENST00000450114.2	37	c.1225	CCDS7800.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.645460	0.96704	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000524612;ENST00000530712	.	.	.	5.32	5.32	0.75619	.	0.059366	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.1521	19.3563	0.94416	0.0:1.0:0.0:0.0	.	.	.	.	X	409;195;37;15	.	ENSP00000299613:Q195X	Q	+	1	0	WEE1	9559738	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.456000	0.80751	2.634000	0.89283	0.591000	0.81541	CAA	WEE1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom	ENSG00000166483		0.373	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE1	HGNC	protein_coding	OTTHUMT00000386757.1	-	0	47	0	C	NM_003390		9603162	1	tier1	-	no_errors	ENST00000450114	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	9603162	C	T	9603162	4	4	85	1	0	0	0	0	0	1	0	0	17393	711	25	3	1247	3	WEE1	11	9603162	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2971335	9603162	125403354	175	22725											
ABCC8	6833	genome.wustl.edu	37	chr11	17434248	17434248	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgctggtagagggctcGggccacactgattcgctggc	5	8	17	11	3	0	2	0	1	0	1	2	2	0	2	1	5	1	4	1	5	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:17434248G>A	ENST00000389817.3	-	21	2589	c.2521C>T	c.(2521-2523)Cga>Tga	p.R841*	ABCC8_ENST00000302539.4_Nonsense_Mutation_p.R842*			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	841	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		R -> G (in HHF1). {ECO:0000269|PubMed:10202168}.		carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TAGAGGGCTCGGGCCACACTG	0.587																																																	0			GRCh37	CM011258|CM086758	ABCC8	M							169	104	126					11																	17434248		2200	4293	6493	SO:0001587	stop_gained	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2521C>T	11.37:g.17434248G>A	ENSP00000374467:p.Arg841*		A6NMX8|E3UYX6|O75948|Q16583	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R842*	ENST00000389817.3	37	c.2524	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.581859	0.98872	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	.	.	.	5.82	4.86	0.63082	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6183	0.76784	0.0:0.0:0.7881:0.2119	.	.	.	.	X	841;842;845	.	ENSP00000303960:R842X	R	-	1	2	ABCC8	17390824	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.625000	0.37029	2.756000	0.94617	0.563000	0.77884	CGA	ABCC8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000006071		0.587	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0	20	0	G	NM_000352		17434248	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	nonsense	35.71	18	10	SNP	1.000	A	A	17434248	G	A	17434248	4	1	85	1	0	0	0	0	0	1	0	0	58	1124	39	1	2300	1	ABCC8	11	17434248	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	7831086	17434248	117572268	176	22726											
KCNC1	3746	genome.wustl.edu	37	chr11	17794164	17794164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtaggaaacctcttagagGcatgtcgatctgacctttca	11	11	10	9	1	3	2	1	1	2	1	4	4	3	3	2	3	1	2	2	3	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:17794164G>A	ENST00000379472.3	+	2	1553	c.1523G>A	c.(1522-1524)gGc>gAc	p.G508D	KCNC1_ENST00000265969.6_Intron	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	508					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.G508D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCTCTTAGAGGCATGTCGATC	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											59	60	60					11																	17794164		2200	4290	6490	SO:0001583	missense	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1523G>A	11.37:g.17794164G>A	ENSP00000368785:p.Gly508Asp		K4DI87	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.G508D	ENST00000379472.3	37	c.1523	CCDS7827.1	11	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703908	0.48412	.	.	ENSG00000129159	ENST00000379472	D	0.97138	-4.26	5.42	5.42	0.78866	.	2.715750	0.00897	N	0.002306	D	0.98036	0.9353	M	0.75264	2.295	0.47737	D	0.999506	D	0.61080	0.989	P	0.49665	0.618	D	0.90470	0.4452	9	.	.	.	.	19.2221	0.93801	0.0:0.0:1.0:0.0	.	508	P48547	KCNC1_HUMAN	D	508	ENSP00000368785:G508D	.	G	+	2	0	KCNC1	17750740	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.976000	0.63785	2.530000	0.85305	0.561000	0.74099	GGC	KCNC1	-	NULL	ENSG00000129159		0.522	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1		0	51	0	G	NM_004976		17794164	1			no_errors	ENST00000379472	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	17794164	G	A	17794164	3	1	85	1	0	0	0	0	1	0	0	0	8041	1203	42	3	1529	3	KCNC1	11	17794164	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	359916	17794164	117212352	177	22727											
ALKBH3	221120	genome.wustl.edu	37	chr11	43904227	43904227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaaagacggcgagccCgagttcagggagcctgggct	12	4	16	9	3	1	1	1	0	0	1	1	5	1	3	2	4	2	2	2	4	3	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:43904227C>T	ENST00000302708.4	+	2	436	c.25C>T	c.(25-27)Cga>Tga	p.R9*	RP11-613D13.5_ENST00000530450.1_RNA|ALKBH3_ENST00000378840.4_Nonsense_Mutation_p.R9*	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	9					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ACGGCGAGCCCGAGTTCAGGG	0.488								Direct reversal of damage																																									0													51	54	53					11																	43904227		2203	4300	6503	SO:0001587	stop_gained	0			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"Alkylation repair homologs"	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.25C>T	11.37:g.43904227C>T	ENSP00000302232:p.Arg9*		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Nonsense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.R9*	ENST00000302708.4	37	c.25	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.699789	0.98441	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000524742;ENST00000529366	.	.	.	5.38	3.36	0.38483	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9501	11.2648	0.49104	0.3402:0.6598:0.0:0.0	.	.	.	.	X	9	.	ENSP00000302232:R9X	R	+	1	2	ALKBH3	43860803	0.993000	0.37304	1.000000	0.80357	0.870000	0.49936	0.533000	0.23082	1.358000	0.45922	0.650000	0.86243	CGA	ALKBH3	-	NULL	ENSG00000166199		0.488	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	-	0	24	0	C	NM_139178		43904227	1	tier1	-	no_errors	ENST00000302708	ensembl	human	known	74_37	nonsense	15.22	38	7	SNP	1.000	T	T	43904227	C	T	43904227	4	4	85	1	0	0	0	0	0	1	0	0	528	644	23	1	27	1	ALKBH3	11	43904227	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	26110063	43904227	91102289	178	22728											
LRP4	4038	genome.wustl.edu	37	chr11	46911919	46911919	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccagtacatacggcgcccGgcatagtcgatggtgaggcc	9	6	13	13	4	0	1	0	1	0	0	1	2	0	1	3	4	2	2	3	4	3	3	rs368577516		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:46911919G>T	ENST00000378623.1	-	14	2066	c.1824C>A	c.(1822-1824)gcC>gcA	p.A608A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	608					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TACGGCGCCCGGCATAGTCGA	0.592											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													88	75	79					11																	46911919		2201	4299	6500	SO:0001819	synonymous_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1824C>A	11.37:g.46911919G>T		942	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A608	ENST00000378623.1	37	c.1824	CCDS31478.1	11																																																																																			LRP4	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000134569		0.592	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0	30	0	G	NM_002334		46911919	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	silent	12.90	27	4	SNP	0.391	T	T	46911919	G	T	46911919	2	4	85	1	0	0	0	0	0	0	0	1	8994	1103	39	2		2	LRP4	11	46911919	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	3007692	46911919	88094597	179	22729											
OR4D9	390199	genome.wustl.edu	37	chr11	59282609	59282609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttgacatctgcttttcctCcatcacagctcctaaggtcc	7	14	5	15	0	3	1	1	1	2	0	7	1	7	1	4	1	2	2	4	1	1	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:59282609C>T	ENST00000329328.3	+	1	224	c.224C>T	c.(223-225)tCc>tTc	p.S75F		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCTTTTCCTCCATCACAGCT	0.458																																																	0													173	164	167					11																	59282609		2201	4295	6496	SO:0001583	missense	0			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"GPCR / Class A : Olfactory receptors"	15178	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily D, member 9 pseudogene"				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.224C>T	11.37:g.59282609C>T	ENSP00000328563:p.Ser75Phe		Q6IFF3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S75F	ENST00000329328.3	37	c.224	CCDS31564.1	11	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086299	0.36855	.	.	ENSG00000172742	ENST00000329328	T	0.00408	7.54	4.02	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.200907	0.24700	U	0.036312	T	0.00524	0.0017	M	0.73962	2.25	0.25942	N	0.982867	B	0.25169	0.119	B	0.30316	0.114	T	0.26292	-1.0107	10	0.87932	D	0	.	12.0265	0.53373	0.0:0.8242:0.1758:0.0	.	75	Q8NGE8	OR4D9_HUMAN	F	75	ENSP00000328563:S75F	ENSP00000328563:S75F	S	+	2	0	OR4D9	59039185	0.000000	0.05858	0.993000	0.49108	0.881000	0.50899	1.263000	0.33004	1.931000	0.55961	0.462000	0.41574	TCC	OR4D9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172742		0.458	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D9	HGNC	protein_coding	OTTHUMT00000394237.1	-	0	59	0	C	NM_001004711		59282609	1	tier1	-	no_errors	ENST00000329328	ensembl	human	known	74_37	missense	28.24	61	24	SNP	0.992	T	T	59282609	C	T	59282609	3	4	85	1	0	0	0	0	1	0	0	0	11098	855	30	3	226	3	OR4D9	11	59282609	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	12370690	59282609	75723907	180	22730											
RTN3	10313	genome.wustl.edu	37	chr11	63487016	63487016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggatctggttccccaaGtgaaacaacagaccgataaa	14	8	9	10	1	1	2	0	1	1	1	2	4	2	3	3	2	2	1	3	2	5	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:63487016G>A	ENST00000377819.5	+	3	1196	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.V236M|RTN3_ENST00000339997.4_Missense_Mutation_p.V329M|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	348					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GGTTCCCCAAGTGAAACAACA	0.383																																																	0													62	62	62					11																	63487016		2201	4298	6499	SO:0001583	missense	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"neuroendocrine-specific protein-like 2", "NSP-like protein II", "isoforme III", "ASY interacting protein", "homolog of ASY protein"	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1042G>A	11.37:g.63487016G>A	ENSP00000367050:p.Val348Met		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.V348M	ENST00000377819.5	37	c.1042	CCDS58141.1	11	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279168	0.59758	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.18502	2.21;2.21;2.21	6.07	3.02	0.34903	.	0.534882	0.17222	N	0.182305	T	0.19967	0.0480	N	0.19112	0.55	0.58432	D	0.999999	D;P;D	0.53462	0.96;0.933;0.96	P;P;P	0.54312	0.748;0.564;0.748	T	0.02498	-1.1150	10	0.37606	T	0.19	-1.1142	14.2801	0.66205	0.0:0.4288:0.5712:0.0	.	236;348;329	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	M	348;329;236	ENSP00000367050:V348M;ENSP00000344106:V329M;ENSP00000442733:V236M	ENSP00000344106:V329M	V	+	1	0	RTN3	63243592	0.993000	0.37304	0.731000	0.30826	0.965000	0.64279	2.956000	0.49129	0.851000	0.35264	0.655000	0.94253	GTG	RTN3	-	NULL	ENSG00000133318		0.383	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1		0	21	0	G	NM_006054		63487016	1			no_errors	ENST00000377819	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.900	A	A	63487016	G	A	63487016	3	1	85	1	0	0	0	0	1	0	0	0	13772	1029	36	3	1052	3	RTN3	11	63487016	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4204407	63487016	71519500	181	22731											
XRRA1	143570	genome.wustl.edu	37	chr11	74638464	74638464	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaaagtctccatatttcAcgtagatagttttgatgcca	12	15	6	8	1	2	2	1	1	1	1	3	2	2	2	2	0	1	2	2	0	5	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:74638464A>C	ENST00000340360.6	-	7	801	c.470T>G	c.(469-471)gTg>gGg	p.V157G	XRRA1_ENST00000527087.1_Missense_Mutation_p.V157G|XRRA1_ENST00000321448.8_5'UTR|XRRA1_ENST00000533598.1_5'UTR	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TCCATATTTCACGTAGATAGT	0.428																																																	0													108	101	103					11																	74638464		1862	4079	5941	SO:0001583	missense	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.470T>G	11.37:g.74638464A>C	ENSP00000339918:p.Val157Gly			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V157G	ENST00000340360.6	37	c.470	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	A	17.09	3.301557	0.60195	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.49720	1.86;0.77;0.82	6.06	6.06	0.98353	.	0.240834	0.32068	N	0.006636	T	0.60248	0.2254	L	0.55103	1.725	0.58432	D	0.999998	D;D	0.89917	0.998;1.0	P;D	0.74674	0.852;0.984	T	0.55244	-0.8171	10	0.16420	T	0.52	-20.4951	13.0011	0.58676	1.0:0.0:0.0:0.0	.	157;157	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	G	157;157;157;157;165	ENSP00000339918:V157G;ENSP00000435838:V157G;ENSP00000437334:V165G	ENSP00000339918:V157G	V	-	2	0	XRRA1	74316112	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.791000	0.62460	2.324000	0.78689	0.533000	0.62120	GTG	XRRA1	-	NULL	ENSG00000166435		0.428	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	-	0	50	0	A	NM_182969		74638464	-1	tier1	-	no_errors	ENST00000340360	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	C	C	74638464	A	C	74638464	3	2	85	1	0	0	0	0	1	0	0	0	17510	159	6	4	1960	4	XRRA1	11	74638464	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	11151448	74638464	60368052	182	22732											
C11orf30	56946	genome.wustl.edu	37	chr11	76237670	76237670	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attgtttatgggcagcaaggGaaaacgcaggtatgctataa	14	10	12	5	1	0	0	0	0	0	0	0	1	0	1	0	3	3	6	0	3	7	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:76237670G>A	ENST00000529032.1	+	12	1986	c.1986G>A	c.(1984-1986)ggG>ggA	p.G662G	C11orf30_ENST00000524490.1_Silent_p.G578G|C11orf30_ENST00000343878.3_Silent_p.G662G|C11orf30_ENST00000525038.1_Silent_p.G677G|C11orf30_ENST00000533248.1_Silent_p.G676G|C11orf30_ENST00000524767.1_Silent_p.G677G|C11orf30_ENST00000525919.1_Silent_p.G663G|C11orf30_ENST00000334736.3_Silent_p.G662G			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	662					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGCAGCAAGGGAAAACGCAGG	0.363																																																	0													92	85	88					11																	76237670		2200	4292	6492	SO:0001819	synonymous_variant	0			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1986G>A	11.37:g.76237670G>A			B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	pfam_ENT_N,pfscan_ENT_N	p.G662	ENST00000529032.1	37	c.1986	CCDS8244.1	11																																																																																			C11orf30	-	NULL	ENSG00000158636		0.363	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2		0	21	0	G	NM_020193		76237670	1			no_errors	ENST00000334736	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.994	A	A	76237670	G	A	76237670	2	1	85	1	0	0	0	0	0	0	0	1	1641	1161	41	3		3	C11orf30	11	76237670	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1599206	76237670	58768846	183	22733											
ODZ4	26011	genome.wustl.edu	37	chr11	78443405	78443405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgcacaggagctggCgaaggacgtcagtggggatg	8	9	16	8	2	2	0	1	0	1	0	3	4	2	3	0	5	2	2	0	5	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:78443405C>T	ENST00000278550.7	-	21	3556	c.3094G>A	c.(3094-3096)Gcc>Acc	p.A1032T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1032					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAGGAGCTGGCGAAGGACGTC	0.517																																																	0													63	67	66					11																	78443405		1924	4127	6051	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3094G>A	11.37:g.78443405C>T	ENSP00000278550:p.Ala1032Thr		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.A1032T	ENST00000278550.7	37	c.3094	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129635	0.77549	.	.	ENSG00000149256	ENST00000278550	D	0.89552	-2.53	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.90497	0.7023	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.89491	0.3757	9	.	.	.	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	1032	Q6N022	TEN4_HUMAN	T	1032	ENSP00000278550:A1032T	.	A	-	1	0	ODZ4	78121053	0.998000	0.40836	1.000000	0.80357	0.956000	0.61745	3.692000	0.54727	2.495000	0.84180	0.561000	0.74099	GCC	TENM4	-	NULL	ENSG00000149256		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2		0	50	0	C			78443405	-1			no_errors	ENST00000278550	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	78443405	C	T	78443405	3	4	85	1	0	0	0	0	1	0	0	0	10876	768	27	1	5271	1	ODZ4	11	78443405	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2205735	78443405	56563111	184	22734											
TRIM49	57093	genome.wustl.edu	37	chr11	89531759	89531759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaatttcatacagaaagaTatcattgttggcttcttcat	14	15	5	7	0	4	2	3	0	1	2	4	2	4	2	0	1	1	2	0	1	5	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:89531759T>C	ENST00000329758.1	-	8	1226	c.898A>G	c.(898-900)Atc>Gtc	p.I300V	TRIM49_ENST00000532501.2_Missense_Mutation_p.I223V	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TACAGAAAGATATCATTGTTG	0.328																																																	0													33	45	41					11																	89531759		2125	4287	6412	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.898A>G	11.37:g.89531759T>C	ENSP00000327604:p.Ile300Val		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.I300V	ENST00000329758.1	37	c.898	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	T	0.820	-0.749086	0.03065	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.06449	3.3	0.821	-0.995	0.10222	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.05731	0.0150	L	0.52011	1.625	0.09310	N	1	B	0.15930	0.015	B	0.20384	0.029	T	0.42899	-0.9424	8	.	.	.	.	3.2474	0.06802	0.0:0.4304:0.0:0.5696	.	300	P0CI25	TRI49_HUMAN	V	300;223	ENSP00000327604:I300V	.	I	-	1	0	TRIM49	89171407	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.353000	0.07691	-0.340000	0.08388	0.163000	0.16589	ATC	TRIM49	-	superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000168930		0.328	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	-	0	97	0	T	NM_020358		89531759	-1	tier1	-	no_errors	ENST00000329758	ensembl	human	known	74_37	missense	19.61	82	20	SNP	0.000	C	C	89531759	T	C	89531759	3	2	85	1	0	0	0	0	1	0	0	0	16572	1406	49	4	464	4	TRIM49	11	89531759	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	11088354	89531759	45474757	185	22735											
ABCG4	64137	genome.wustl.edu	37	chr11	119025273	119025273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagtgagaagcaggaggtGaagaaggagctggtgagtgg	12	6	20	3	0	0	5	0	4	0	2	0	8	0	7	0	5	2	2	0	5	3	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:119025273G>A	ENST00000449422.2	+	5	716	c.528G>A	c.(526-528)gtG>gtA	p.V176V	ABCG4_ENST00000307417.3_Silent_p.V176V|ABCG4_ENST00000531739.1_Silent_p.V176V	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	176	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCAGGAGGTGAAGAAGGAGC	0.592																																																	0													62	61	61					11																	119025273		2200	4295	6495	SO:0001819	synonymous_variant	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.528G>A	11.37:g.119025273G>A			A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V176	ENST00000449422.2	37	c.528	CCDS8415.1	11																																																																																			ABCG4	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000172350		0.592	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1		0	40	0	G	NM_022169		119025273	1			no_errors	ENST00000307417	ensembl	human	known	74_37	silent	11.11	24	3	SNP	1.000	A	A	119025273	G	A	119025273	2	1	85	1	0	0	0	0	0	0	0	1	70	1277	45	3		3	ABCG4	11	119025273	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	29493514	119025273	15981243	186	22736											
MFRP	83552	genome.wustl.edu	37	chr11	119212576	119212576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagaagaccttgtaaccGctgaggacctctaccacctc	11	7	7	16	1	1	3	0	1	1	2	2	4	1	4	6	1	2	2	6	1	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr11:119212576G>A	ENST00000530681.1	-	12	1650	c.1506C>T	c.(1504-1506)agC>agT	p.S502S	MFRP_ENST00000555262.1_Silent_p.S502S|MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000449574.2_Silent_p.S502S	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	502	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CCTTGTAACCGCTGAGGACCT	0.627																																																	0													88	77	81					11																	119212576		2199	4295	6494	SO:0001819	synonymous_variant	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"membrane-type frizzled-related protein", "complement C1q tumor necrosis factor-related protein 5 precursor variant 1"	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1506C>T	11.37:g.119212576G>A			B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.S502	ENST00000530681.1	37	c.1506	CCDS8421.1	11																																																																																			MFRP	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000235718		0.627	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	HGNC	protein_coding	OTTHUMT00000415179.1		0	74	0	G	NM_031433		119212576	-1			no_errors	ENST00000449574	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.853	A	A	119212576	G	A	119212576	2	1	85	1	0	0	0	0	0	0	0	1	9564	1078	38	1		1	MFRP	11	119212576	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	187303	119212576	15793940	187	22737											
CACNA1C	775	genome.wustl.edu	37	chr12	2787022	2787022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccgctgcttctgaagatGacatcttcagggtgggtggt	6	13	14	8	1	3	3	1	2	2	1	4	3	4	3	1	3	1	2	1	3	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:2787022G>A	ENST00000347598.4	+	43	5224	c.5224G>A	c.(5224-5226)Gac>Aac	p.D1742N	CACNA1C_ENST00000399644.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D1711N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D1702N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D1694N|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D1713N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D1735N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D1702N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D1714N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D1713N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D1722N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D1700N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D1694N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D1694N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D1719N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D1713N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D1694N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1742					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTGAAGATGACATCTTCAG	0.592																																																	0													62	68	66					12																	2787022		2113	4232	6345	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5224G>A	12.37:g.2787022G>A	ENSP00000266376:p.Asp1742Asn		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.D1694N	ENST00000347598.4	37	c.5080	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229976	0.79688	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-3.96;-3.97;-3.97;-3.94;-3.97;-3.99;-3.88;-3.91;-3.97;-3.87;-3.9;-3.97;-4.01;-3.88;-3.87;-4.02;-3.98;-3.97;-4.01;-3.97;-4.01;-4.02	4.48	4.48	0.54585	.	7739.210000	0.00166	N	0.000001	D	0.98311	0.9440	M	0.71581	2.175	0.80722	D	1	P;P;P;B;P;P;P;P;B;B;P;P;P;P;P;P;D;B;D;B;P;P;P;P;P	0.71674	0.882;0.95;0.787;0.389;0.915;0.912;0.825;0.95;0.159;0.278;0.95;0.787;0.683;0.913;0.792;0.766;0.998;0.024;0.971;0.209;0.873;0.95;0.95;0.894;0.634	P;P;B;B;P;P;B;P;B;B;P;B;B;P;B;P;D;B;P;B;B;P;P;P;B	0.78314	0.76;0.447;0.273;0.065;0.544;0.628;0.342;0.628;0.142;0.098;0.628;0.273;0.3;0.628;0.255;0.493;0.991;0.026;0.628;0.098;0.273;0.628;0.628;0.521;0.23	D	0.91643	0.5328	10	0.45353	T	0.12	.	17.3387	0.87289	0.0:0.0:1.0:0.0	.	385;1735;1691;1742;1694;1713;1694;1711;1722;1694;1714;1694;1654;1742;1694;1694;1694;1702;1700;1702;1683;1713;1713;1694;1694	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	1719;1694;1694;1722;1694;1713;1713;1702;1694;1742;1714;1694;1735;1711;1694;1700;1713;1694;1694;1694;1694;1702;1524	ENSP00000336982:D1719N;ENSP00000382563:D1694N;ENSP00000382552:D1694N;ENSP00000382547:D1722N;ENSP00000382506:D1694N;ENSP00000382530:D1713N;ENSP00000382546:D1713N;ENSP00000382500:D1702N;ENSP00000382549:D1694N;ENSP00000266376:D1742N;ENSP00000382515:D1714N;ENSP00000382510:D1694N;ENSP00000341092:D1735N;ENSP00000382537:D1711N;ENSP00000329877:D1694N;ENSP00000382557:D1700N;ENSP00000385724:D1713N;ENSP00000382512:D1694N;ENSP00000382542:D1694N;ENSP00000382526:D1694N;ENSP00000385896:D1694N;ENSP00000382504:D1702N	ENSP00000323129:D1524N	D	+	1	0	CACNA1C	2657283	1.000000	0.71417	0.991000	0.47740	0.670000	0.39368	9.579000	0.98204	2.332000	0.79248	0.313000	0.20887	GAC	CACNA1C	-	NULL	ENSG00000151067		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	41	0	G	NM_000719		2787022	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	A	A	2787022	G	A	2787022	3	1	85	1	0	0	0	0	1	0	0	0	2547	1290	45	3	5625	3	CACNA1C	12	2787022	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		2787022	131064873	188	22738											
KLRC2	3823	genome.wustl.edu	37	chr12	10588462	10588462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggattttgaagatttaattCtacttggaatatttcctgtt	11	19	7	4	0	1	2	0	1	1	1	2	4	2	4	1	2	1	1	1	2	5	10			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:10588462C>G	ENST00000539033.1	-	1	138	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	KLRC2_ENST00000381901.1_Missense_Mutation_p.E42Q|KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381902.2_Missense_Mutation_p.E42Q														p.E42*(1)									AGATTTAATTCTACTTGGAAT	0.368																																																	1	Substitution - Nonsense(1)	ovary(1)											145	159	155					12																	10588462		2202	4299	6501	SO:0001583	missense	0																														ENST00000539033.1:c.124G>C	12.37:g.10588462C>G	ENSP00000437563:p.Glu42Gln			Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E42Q	ENST00000539033.1	37	c.124		12	.	.	.	.	.	.	.	.	.	.	C	11.94	1.790114	0.31685	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901	T;T;T	0.05199	3.48;3.48;3.48	2.57	0.579	0.17397	.	0.445755	0.19718	N	0.107641	T	0.21674	0.0522	M	0.91920	3.255	0.09310	N	1	P;P;P	0.50819	0.867;0.939;0.919	P;P;P	0.58873	0.611;0.847;0.682	T	0.04650	-1.0936	10	0.87932	D	0	.	5.4666	0.16646	0.0:0.687:0.0:0.313	.	28;42;42	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	Q	42	ENSP00000437563:E42Q;ENSP00000371327:E42Q;ENSP00000371326:E42Q	ENSP00000371326:E42Q	E	-	1	0	KLRC2;RP11-277P12.6	10479729	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.293000	0.19029	-0.003000	0.14444	-1.206000	0.01644	GAA	NKG2-E	-	NULL	ENSG00000255641		0.368	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000255641	Uniprot_gn	protein_coding	OTTHUMT00000400274.1	-	0	113	0	C			10588462	-1	tier1	-	no_errors	ENST00000539033	ensembl	human	known	74_37	missense	10.46	137	16	SNP	0.000	G	G	10588462	C	G	10588462	3	3	85	1	0	0	0	0	1	0	0	0	8443	922	32	5	595	5	KLRC2	12	10588462	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7801440	10588462	123263433	189	22739											
PRB2	653247	genome.wustl.edu	37	chr12	11546807	11546807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggaggtgggggaccttGaggctggttgcctccttgtg	4	11	19	7	0	0	1	0	1	0	0	1	4	1	4	3	7	1	2	3	7	0	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:11546807G>C	ENST00000389362.4	-	3	240	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	69	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGCTGGTTG	0.607																																																	0													125	141	136					12																	11546807		2164	4250	6414	SO:0001583	missense	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.205C>G	12.37:g.11546807G>C	ENSP00000374013:p.Gln69Glu		O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.Q69E	ENST00000389362.4	37	c.205	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	7.613	0.675282	0.14841	.	.	ENSG00000121335	ENST00000389362	T	0.04502	3.61	2.0	0.0115	0.14087	.	27.867600	0.00718	U	0.000874	T	0.04770	0.0129	L	0.53249	1.67	0.09310	N	1	P	0.41041	0.736	B	0.22152	0.038	T	0.46775	-0.9167	10	0.27082	T	0.32	.	6.5572	0.22466	0.0:0.0:0.3488:0.6512	.	69	P02812	PRB2_HUMAN	E	69	ENSP00000374013:Q69E	ENSP00000374013:Q69E	Q	-	1	0	PRB2	11438074	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.413000	0.07123	0.121000	0.18284	0.418000	0.28097	CAA	PRB2	-	NULL	ENSG00000121335		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0	103	0	G	NM_006248		11546807	-1	tier1	-	no_errors	ENST00000389362	ensembl	human	known	74_37	missense	15.44	115	21	SNP	0.001	C	C	11546807	G	C	11546807	3	2	85	1	0	0	0	0	1	0	0	0	12485	1299	45	5	1049	5	PRB2	12	11546807	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	958345	11546807	122305088	190	22740											
ATF7IP	55729	genome.wustl.edu	37	chr12	14610171	14610171	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgagacagatgctggaGtccaaaagaaatgtaagcga	17	6	12	6	1	0	3	0	1	0	3	1	6	1	4	1	1	2	2	1	1	4	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:14610171G>T	ENST00000540793.1	+	7	2255	c.2100G>T	c.(2098-2100)gaG>gaT	p.E700D	ATF7IP_ENST00000543189.1_Missense_Mutation_p.E699D|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E699D|ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E700D|ATF7IP_ENST00000544627.1_Missense_Mutation_p.E708D			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	700	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGATGCTGGAGTCCAAAAGAA	0.363																																																	0													113	112	112					12																	14610171		2203	4300	6503	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2100G>T	12.37:g.14610171G>T	ENSP00000444589:p.Glu700Asp		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E700D	ENST00000540793.1	37	c.2100	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981564	0.74474	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22539	1.97;1.95;1.97;1.97;1.97	5.75	2.9	0.33743	.	0.000000	0.64402	D	0.000001	T	0.40473	0.1118	M	0.61703	1.905	0.42599	D	0.993274	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.83275	0.996;0.987;0.996;0.996	T	0.26224	-1.0109	10	0.66056	D	0.02	-17.7109	10.918	0.47148	0.261:0.0:0.739:0.0	.	699;700;699;311	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	D	700;699;699;708;700	ENSP00000261168:E700D;ENSP00000443179:E699D;ENSP00000445955:E699D;ENSP00000440440:E708D;ENSP00000444589:E700D	ENSP00000261168:E700D	E	+	3	2	ATF7IP	14501438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.396000	0.20867	0.874000	0.35823	0.650000	0.86243	GAG	ATF7IP	-	NULL	ENSG00000171681		0.363	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	-	0	64	0	G	NM_018179		14610171	1	tier1	-	no_errors	ENST00000261168	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	14610171	G	T	14610171	3	4	85	1	0	0	0	0	1	0	0	0	1088	1020	36	3	2126	3	ATF7IP	12	14610171	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	3063364	14610171	119241724	191	22741											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20903690	20903690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttaaaagatgtggaagtaGaggatcatgcagattatatg	16	12	11	2	0	1	3	1	0	0	3	1	5	1	5	0	2	1	2	0	2	6	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:20903690G>C	ENST00000266509.2	+	14	2248	c.1880G>C	c.(1879-1881)aGa>aCa	p.R627T	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R627T|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.R509T|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R627T|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R578T	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	627					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TGTGGAAGTAGAGGATCATGC	0.388																																																	0													133	122	126					12																	20903690		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1880G>C	12.37:g.20903690G>C	ENSP00000266509:p.Arg627Thr		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.R627T	ENST00000266509.2	37	c.1880	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864845	0.51482	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.32	0.412	0.16397	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.322024	0.36665	N	0.002468	T	0.56731	0.2005	M	0.84433	2.695	0.32988	D	0.524605	P;P;B;B	0.37824	0.609;0.562;0.293;0.07	B;P;P;B	0.51742	0.326;0.678;0.456;0.217	T	0.65274	-0.6208	10	0.46703	T	0.11	.	9.2133	0.37331	0.4527:0.0:0.5473:0.0	.	509;578;627;627	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	T	627;578;627;627;509	ENSP00000444149:R627T;ENSP00000438665:R578T;ENSP00000266509:R627T;ENSP00000370964:R627T;ENSP00000444527:R509T	ENSP00000266509:R627T	R	+	2	0	SLCO1C1	20794957	0.063000	0.20901	0.850000	0.33497	0.989000	0.77384	0.276000	0.18716	0.122000	0.18314	-0.136000	0.14681	AGA	SLCO1C1	-	pfam_OA_transporter,tigrfam_OA_transporter	ENSG00000139155		0.388	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	59	0	G	NM_017435		20903690	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	25.40	47	16	SNP	0.099	C	C	20903690	G	C	20903690	3	2	85	1	0	0	0	0	1	0	0	0	14770	942	33	5	1930	5	SLCO1C1	12	20903690	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	6293519	20903690	112948205	192	22742											
CCDC91	55297	genome.wustl.edu	37	chr12	28515424	28515424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagctggtcacgaagccctCagcattattgtggatgaata	13	10	10	8	1	2	1	2	1	0	0	2	3	2	2	1	2	3	2	1	2	5	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:28515424C>T	ENST00000545336.1	+	10	1049	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Silent_p.L180L|CCDC91_ENST00000381256.1_Silent_p.L210L|CCDC91_ENST00000539107.1_Silent_p.L210L|CCDC91_ENST00000381259.1_Silent_p.L210L			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	210	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACGAAGCCCTCAGCATTATTG	0.333																																																	0													113	118	117					12																	28515424		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.630C>T	12.37:g.28515424C>T			B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Silent	SNP	NULL	p.L210	ENST00000545336.1	37	c.630	CCDS8716.1	12																																																																																			CCDC91	-	NULL	ENSG00000123106		0.333	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	-	0	23	0	C	NM_018318		28515424	1	tier1	-	no_errors	ENST00000381259	ensembl	human	known	74_37	silent	26.00	37	13	SNP	0.995	T	T	28515424	C	T	28515424	2	4	85	1	0	0	0	0	0	0	0	1	2877	813	29	3		3	CCDC91	12	28515424	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7611734	28515424	105336471	193	22743											
CPNE8	144402	genome.wustl.edu	37	chr12	39047846	39047846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtggtttccacttctGtcaatataatccctgaatgg	10	15	8	8	0	2	1	1	1	1	0	4	1	4	1	2	2	0	2	2	2	5	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:39047846G>T	ENST00000331366.5	-	20	1629	c.1533C>A	c.(1531-1533)gaC>gaA	p.D511E	CPNE8_ENST00000360449.3_Missense_Mutation_p.D499E|CPNE8_ENST00000546603.1_5'UTR|CPNE8_ENST00000538596.2_Missense_Mutation_p.D180E	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	511						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTCCACTTCTGTCAATATAAT	0.398																																																	0													82	74	77					12																	39047846		2203	4300	6503	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1533C>A	12.37:g.39047846G>T	ENSP00000329748:p.Asp511Glu		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.D511E	ENST00000331366.5	37	c.1533	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569936	0.45798	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.24350	1.86;1.99;1.86	4.82	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.30727	0.0774	M	0.76727	2.345	0.58432	D	0.999998	B	0.20164	0.042	B	0.21151	0.033	T	0.22521	-1.0214	10	0.54805	T	0.06	-18.7828	13.0474	0.58935	0.0862:0.0:0.9138:0.0	.	511	Q86YQ8	CPNE8_HUMAN	E	511;180;499	ENSP00000329748:D511E;ENSP00000439237:D180E;ENSP00000353633:D499E	ENSP00000329748:D511E	D	-	3	2	CPNE8	37334113	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	6.054000	0.71096	2.372000	0.80975	0.655000	0.94253	GAC	CPNE8	-	NULL	ENSG00000139117		0.398	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0	36	0	G	NM_153634		39047846	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	39047846	G	T	39047846	3	4	85	1	0	0	0	0	1	0	0	0	3825	1368	48	3	165	3	CPNE8	12	39047846	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	10532422	39047846	94804049	194	22744											
CPNE8	144402	genome.wustl.edu	37	chr12	39170060	39170060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcaacagtttaattcctCtgctgtaagtatgattgtac	10	15	7	9	0	1	1	0	1	1	0	2	1	2	1	2	0	4	6	2	0	5	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:39170060C>G	ENST00000331366.5	-	7	547	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	CPNE8_ENST00000360449.3_Missense_Mutation_p.E139Q	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	151	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTAATTCCTCTGCTGTAAGT	0.244																																																	0													82	86	85					12																	39170060		2201	4269	6470	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.451G>C	12.37:g.39170060C>G	ENSP00000329748:p.Glu151Gln		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.E151Q	ENST00000331366.5	37	c.451	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208993	0.79240	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.30182	1.55;1.54	5.17	5.17	0.71159	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.75085	2.285	0.80722	D	1	D	0.55800	0.973	P	0.55923	0.787	T	0.48658	-0.9016	10	0.44086	T	0.13	-25.5139	18.3196	0.90232	0.0:1.0:0.0:0.0	.	151	Q86YQ8	CPNE8_HUMAN	Q	151;139	ENSP00000329748:E151Q;ENSP00000353633:E139Q	ENSP00000329748:E151Q	E	-	1	0	CPNE8	37456327	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.883000	0.75595	2.793000	0.96121	0.591000	0.81541	GAG	CPNE8	-	superfamily_C2_dom	ENSG00000139117		0.244	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0	193	0	C	NM_153634		39170060	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	16.34	169	33	SNP	1.000	G	G	39170060	C	G	39170060	3	3	85	1	0	0	0	0	1	0	0	0	3825	922	32	5	1299	5	CPNE8	12	39170060	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	122214	39170060	94681835	195	22745											
TMEM117	84216	genome.wustl.edu	37	chr12	44781966	44781966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaaagtttaaaagatttGaacagaaccaagctatcctg	17	10	7	7	0	1	4	1	1	0	3	2	4	2	4	2	0	3	2	2	0	7	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:44781966G>C	ENST00000266534.3	+	8	1183	c.1056G>C	c.(1054-1056)ttG>ttC	p.L352F	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.L248F	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	352						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TAAAAGATTTGAACAGAACCA	0.398																																																	0													80	77	78					12																	44781966		2203	4299	6502	SO:0001583	missense	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1056G>C	12.37:g.44781966G>C	ENSP00000266534:p.Leu352Phe			Missense_Mutation	SNP	NULL	p.L352F	ENST00000266534.3	37	c.1056	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	G	7.802	0.713779	0.15306	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	T;T	0.42513	0.97;0.97	5.73	3.48	0.39840	.	0.057784	0.64402	D	0.000002	T	0.24353	0.0590	L	0.31207	0.915	0.40782	D	0.983188	B;B	0.24186	0.099;0.004	B;B	0.22753	0.041;0.006	T	0.12116	-1.0560	10	0.33141	T	0.24	-25.3523	1.8004	0.03070	0.1943:0.1143:0.4681:0.2232	.	248;352	F5H3Q2;Q9H0C3	.;TM117_HUMAN	F	352;248;100	ENSP00000266534:L352F;ENSP00000445243:L248F	ENSP00000266534:L352F	L	+	3	2	TMEM117	43068233	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.676000	0.25247	1.062000	0.40625	0.650000	0.86243	TTG	TMEM117	-	NULL	ENSG00000139173		0.398	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	-	0	45	0	G	NM_032256		44781966	1	tier1	-	no_errors	ENST00000266534	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.999	C	C	44781966	G	C	44781966	3	2	85	1	0	0	0	0	1	0	0	0	16078	1281	45	5	1082	5	TMEM117	12	44781966	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	5611906	44781966	89069929	196	22746											
PLEKHA9	51054	genome.wustl.edu	37	chr12	45567215	45567215	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcagggctgtctggatatCcttttccccatttttcactt	6	18	6	11	0	3	0	2	0	1	0	5	1	5	1	3	2	0	1	3	2	1	7	rs147039982		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:45567215C>A	ENST00000256692.5	-	0	1470					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCTGGATATCCTTTTCCCCA	0.468																																																	0													101	99	99					12																	45567215		2203	4300	6503			0			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567215C>A				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-	ENSG00000134297		0.468	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1	-	0	60	0	C	NR_037144		45567215	-1	tier1	-	no_errors	ENST00000256692	ensembl	human	known	74_37	rna	8.82	62	6	SNP	0.997	A	A	45567215	C	A	45567215	1	1	85	0	1	0	0	0	0	0	0	0	12102	855	30	3		3	PLEKHA9	12	45567215	RNA	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	785249	45567215	88284680	197	22747											
NEUROD4	58158	genome.wustl.edu	37	chr12	55420518	55420518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgccagagaacggaccCggatgcatggcctgaatgac	12	6	12	11	2	0	3	0	2	0	1	0	6	0	5	3	3	3	1	3	3	3	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:55420518C>T	ENST00000242994.3	+	2	673	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	99	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGAACGGACCCGGATGCATGG	0.498																																																	0													80	82	81					12																	55420518		2203	4300	6503	SO:0001583	missense	0			AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"Basic helix-loop-helix proteins"	13802	protein-coding gene	gene with protein product		611635	"neurogenic differentiation 4"				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.295C>T	12.37:g.55420518C>T	ENSP00000242994:p.Arg99Trp		B2RAC9	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.R99W	ENST00000242994.3	37	c.295	CCDS8886.1	12	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526029	0.85600	.	.	ENSG00000123307	ENST00000242994	D	0.99722	-6.53	5.22	5.22	0.72569	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96477	0.9353	10	0.87932	D	0	-1.696	16.6752	0.85277	0.0:1.0:0.0:0.0	.	99	Q9HD90	NDF4_HUMAN	W	99	ENSP00000242994:R99W	ENSP00000242994:R99W	R	+	1	2	NEUROD4	53706785	0.994000	0.37717	1.000000	0.80357	0.992000	0.81027	3.128000	0.50492	2.603000	0.88011	0.655000	0.94253	CGG	NEUROD4	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	ENSG00000123307		0.498	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD4	HGNC	protein_coding	OTTHUMT00000406104.1	-	0	39	0	C			55420518	1	tier1	-	no_errors	ENST00000242994	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	55420518	C	T	55420518	3	4	85	1	0	0	0	0	1	0	0	0	10389	643	23	1	297	1	NEUROD4	12	55420518	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	9853303	55420518	78431377	198	22748											
NACA	4666	genome.wustl.edu	37	chr12	57111774	57111774	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctagacctccttttggggaAggaggagttgcagctggggt	7	10	17	7	0	0	1	0	0	0	1	1	4	1	4	2	6	2	4	2	6	2	4	rs111848322		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:57111774A>G	ENST00000454682.1	-	3	3821	c.3540T>C	c.(3538-3540)ccT>ccC	p.P1180P	NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1180	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAAGGAGGAGTTG	0.632			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													65	74	71					12																	57111774		1202	2821	4023	SO:0001819	synonymous_variant	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3540T>C	12.37:g.57111774A>G				Silent	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.P1180	ENST00000454682.1	37	c.3540		12																																																																																			NACA	-	NULL	ENSG00000196531		0.632	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0	30	0	A	NM_005594		57111774	-1	tier1	rs111848322	no_errors	ENST00000454682	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.002	G	G	57111774	A	G	57111774	2	3	85	1	0	0	0	0	0	0	0	1	10171	59	3	4		4	NACA	12	57111774	Silent	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	1691256	57111774	76740121	199	22749											
NAB2	4665	genome.wustl.edu	37	chr12	57485167	57485167	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatccagggctcttcagtCaaccagtgcctgctgttccc	7	10	8	16	0	3	0	2	0	1	0	5	0	5	0	5	1	3	3	5	1	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:57485167C>T	ENST00000300131.3	+	2	721	c.343C>T	c.(343-345)Caa>Taa	p.Q115*	NAB2_ENST00000342556.6_Nonsense_Mutation_p.Q115*|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Nonsense_Mutation_p.Q115*	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	115					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTCTTCAGTCAACCAGTGCC	0.612																																																	0													77	85	82					12																	57485167		2203	4300	6503	SO:0001587	stop_gained	0			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.343C>T	12.37:g.57485167C>T	ENSP00000300131:p.Gln115*		B2RAK3|O76006|Q14797	Nonsense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.Q115*	ENST00000300131.3	37	c.343	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	C	38	6.975522	0.97975	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.3865	14.9499	0.71064	0.0:1.0:0.0:0.0	.	.	.	.	X	115	.	ENSP00000300131:Q115X	Q	+	1	0	NAB2	55771434	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.645000	0.83430	2.375000	0.81037	0.462000	0.41574	CAA	NAB2	-	pfam_Nab_N	ENSG00000166886		0.612	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	-	0	30	0	C	NM_005967		57485167	1	tier1	-	no_errors	ENST00000300131	ensembl	human	known	74_37	nonsense	18.00	41	9	SNP	1.000	T	T	57485167	C	T	57485167	4	4	85	1	0	0	0	0	0	1	0	0	10170	827	29	3	349	3	NAB2	12	57485167	Nonsense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	373393	57485167	76366728	200	22750											
DCTN2	10540	genome.wustl.edu	37	chr12	57926560	57926560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaactgcaaggtctagggCgctcacctttgcttgcaaca	11	9	9	12	1	2	0	1	0	1	0	2	0	2	0	1	2	5	4	1	2	5	3	rs141248212	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:57926560C>A	ENST00000548249.1	-	10	1075	c.808G>T	c.(808-810)Gcc>Tcc	p.A270S	DCTN2_ENST00000537439.1_Missense_Mutation_p.A247S|DCTN2_ENST00000434715.3_Missense_Mutation_p.A275S|DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000543672.1_Missense_Mutation_p.A275S	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	270					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.A275T(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						AGGTCTAGGGCGCTCACCTTT	0.493																																																	2	Substitution - Missense(2)	large_intestine(2)											83	79	80					12																	57926560		1922	4143	6065	SO:0001583	missense	0			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.808G>T	12.37:g.57926560C>A	ENSP00000447824:p.Ala270Ser		B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	NULL	p.A275S	ENST00000548249.1	37	c.823	CCDS58245.1	12	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839964	0.51057	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000550086	.	.	.	5.18	2.36	0.29203	.	0.113945	0.64402	D	0.000017	T	0.40423	0.1116	L	0.47716	1.5	0.43412	D	0.995559	B;B;B	0.15930	0.006;0.015;0.007	B;B;B	0.13407	0.005;0.005;0.009	T	0.10894	-1.0610	9	0.09084	T	0.74	-5.9565	4.5941	0.12322	0.418:0.4181:0.0:0.1639	.	270;275;270	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	S	270;275;275;247;270;183;111	.	ENSP00000346785:A270S	A	-	1	0	DCTN2	56212827	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	0.852000	0.27764	0.873000	0.35799	0.557000	0.71058	GCC	DCTN2	-	NULL	ENSG00000175203		0.493	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN2	HGNC	protein_coding	OTTHUMT00000407393.2		0	28	0	C	NM_006400		57926560	-1			no_errors	ENST00000434715	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A	A	57926560	C	A	57926560	3	1	85	1	0	0	0	0	1	0	0	0	4316	768	27	2	417	2	DCTN2	12	57926560	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	441393	57926560	75925335	201	22751											
WIF1	11197	genome.wustl.edu	37	chr12	65514254	65514254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgacaggaatagctggCattctctgttgtgcttttct	8	17	9	7	0	2	1	0	1	2	0	3	2	2	2	0	2	2	4	0	2	3	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:65514254C>T	ENST00000286574.4	-	2	605	c.231G>A	c.(229-231)atG>atA	p.M77I		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	77	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GAATAGCTGGCATTCTCTGTT	0.373			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)			Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													137	141	139					12																	65514254		2203	4300	6503	SO:0001583	missense	0			AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.231G>A	12.37:g.65514254C>T	ENSP00000286574:p.Met77Ile		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh	p.M77I	ENST00000286574.4	37	c.231	CCDS8971.1	12	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551140	0.86127	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	T;T	0.40225	1.04;1.04	5.5	5.5	0.81552	WIF domain (4);	0.086825	0.85682	D	0.000000	T	0.55226	0.1907	L	0.36672	1.1	0.80722	D	1	P	0.48294	0.908	D	0.63488	0.915	T	0.42531	-0.9446	9	.	.	.	.	19.7678	0.96349	0.0:1.0:0.0:0.0	.	77	Q9Y5W5	WIF1_HUMAN	I	77;15	ENSP00000286574:M77I;ENSP00000442063:M15I	.	M	-	3	0	WIF1	63800521	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.673000	0.74482	2.760000	0.94817	0.655000	0.94253	ATG	WIF1	-	pfam_WIF,smart_WIF,pfscan_WIF,prints_Wnt-inh	ENSG00000156076		0.373	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIF1	HGNC	protein_coding	OTTHUMT00000401258.2		0	38	0	C			65514254	-1			no_errors	ENST00000286574	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	65514254	C	T	65514254	3	4	85	1	0	0	0	0	1	0	0	0	17415	710	25	3	944	3	WIF1	12	65514254	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7587694	65514254	68337641	202	22752											
HAL	3034	genome.wustl.edu	37	chr12	96380981	96380981	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatctgcgtcccattgatGagtgccaggccctgtcgggg	6	10	13	12	2	2	2	1	2	1	0	4	2	3	2	3	3	2	0	3	3	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:96380981G>C	ENST00000261208.3	-	12	1283	c.915C>G	c.(913-915)ctC>ctG	p.L305L	HAL_ENST00000541929.1_Silent_p.L97L|HAL_ENST00000538703.1_Silent_p.L305L|HAL_ENST00000551562.1_5'Flank	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	305					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCCCATTGATGAGTGCCAGGC	0.512																																					NSCLC(169;943 2815 23563 30031)												0													98	94	95					12																	96380981		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.915C>G	12.37:g.96380981G>C			B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Silent	SNP	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	p.L305	ENST00000261208.3	37	c.915	CCDS9058.1	12																																																																																			HAL	-	pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH	ENSG00000084110		0.512	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAL	HGNC	protein_coding	OTTHUMT00000408644.1	-	0	31	0	G			96380981	-1	tier1	-	no_errors	ENST00000261208	ensembl	human	known	74_37	silent	19.44	29	7	SNP	1.000	C	C	96380981	G	C	96380981	2	2	85	1	0	0	0	0	0	0	0	1	6974	1277	45	5		5	HAL	12	96380981	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	30866727	96380981	37470914	203	22753											
PAH	5053	genome.wustl.edu	37	chr12	103238176	103238176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatggagtctccttgttTgcagagcccaaactccacag	9	12	8	12	0	1	1	0	0	1	1	3	2	2	2	3	1	3	2	3	1	2	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:103238176T>C	ENST00000553106.1	-	10	1475	c.1003A>G	c.(1003-1005)Aaa>Gaa	p.K335E	PAH_ENST00000307000.2_Missense_Mutation_p.K330E	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	335					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TCTCCTTGTTTGCAGAGCCCA	0.423																																																	0													98	89	92					12																	103238176		2203	4300	6503	SO:0001583	missense	0			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"phenylalanine 4-monooxygenase"	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1003A>G	12.37:g.103238176T>C	ENSP00000448059:p.Lys335Glu		Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.K335E	ENST00000553106.1	37	c.1003	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166179	0.78339	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99683	-6.39;-6.39	5.81	5.81	0.92471	Aromatic amino acid hydroxylase, C-terminal (3);	0.042652	0.85682	D	0.000000	D	0.99013	0.9663	L	0.58428	1.81	0.80722	D	1	B	0.19583	0.037	B	0.23018	0.043	D	0.98241	1.0488	10	0.62326	D	0.03	-27.7423	16.1623	0.81730	0.0:0.0:0.0:1.0	.	335	P00439	PH4H_HUMAN	E	335;330	ENSP00000448059:K335E;ENSP00000303500:K330E	ENSP00000303500:K330E	K	-	1	0	PAH	101762306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.883000	0.87264	2.223000	0.72356	0.533000	0.62120	AAA	PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra	ENSG00000171759		0.423	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	-	0	79	0	T			103238176	-1	tier1	-	no_errors	ENST00000553106	ensembl	human	known	74_37	missense	24.32	56	18	SNP	1.000	C	C	103238176	T	C	103238176	3	2	85	1	0	0	0	0	1	0	0	0	11433	1821	63	4	371	4	PAH	12	103238176	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	6857195	103238176	30613719	204	22754											
ATXN2	6311	genome.wustl.edu	37	chr12	111958776	111958776	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgggatcccatccattaGactagaagaaaatgaagctt	15	10	8	8	0	0	4	0	1	0	3	2	5	2	5	2	1	1	1	2	1	6	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:111958776G>C	ENST00000377617.3	-	7	1339	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C	ATXN2_ENST00000608853.1_Splice_Site_p.S233C|ATXN2_ENST00000550104.1_Splice_Site_p.S393C|ATXN2_ENST00000542287.2_Splice_Site_p.S128C|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000389153.4_Splice_Site_p.S128C|ATXN2_ENST00000535949.1_Splice_Site_p.S104C	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	393					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCATCCATTAGACTAGAAGAA	0.308																																																	0													81	74	76					12																	111958776		2201	4294	6495	SO:0001630	splice_region_variant	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1177-1C>G	12.37:g.111958776G>C			A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S393C	ENST00000377617.3	37	c.1178	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429986	0.83776	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000471866;ENST00000548492	T;T	0.70399	-0.41;-0.48	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.82628	0.5078	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.85130	0.993;0.993;0.99;0.997	D	0.84303	0.0506	10	0.87932	D	0	-12.1879	18.8486	0.92218	0.0:0.0:1.0:0.0	.	128;393;104;128	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	C	128;393;393;128;104;69;136	ENSP00000366843:S393C;ENSP00000446576:S393C	ENSP00000366843:S393C	S	-	2	0	ATXN2	110443159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.363000	0.97131	2.451000	0.82905	0.557000	0.71058	TCT	ATXN2	-	NULL	ENSG00000204842		0.308	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	-	0	40	0	G	NM_002973	Missense_Mutation	111958776	-1	tier1	-	no_errors	ENST00000377617	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	C	C	111958776	G	C	111958776	5	2	85	1	0	0	0	0	0	0	1	0	1212	956	33	5	2839	5	ATXN2	12	111958776	Splice_Site	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	8720600	111958776	21893119	205	22755											
ALDH2	217	genome.wustl.edu	37	chr12	112221026	112221026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggctcaccttggcgccGcatggacgcatcacacaggg	7	6	14	14	3	2	0	2	0	0	0	2	1	2	1	2	4	0	4	2	4	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:112221026G>A	ENST00000261733.2	+	3	345	c.284G>A	c.(283-285)cGc>cAc	p.R95H	RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.A92T|ALDH2_ENST00000416293.3_Intron	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	95					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGCGCCGCATGGACGCA	0.637			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0													67	78	74					12																	112221026		2203	4299	6502	SO:0001583	missense	0			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.284G>A	12.37:g.112221026G>A	ENSP00000261733:p.Arg95His		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.R95H	ENST00000261733.2	37	c.284	CCDS9155.1	12	.	.	.	.	.	.	.	.	.	.	g	25.1	4.603686	0.87157	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000261733;ENST00000553044	T	0.76578	-1.03	5.57	3.41	0.39046	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101452	0.64402	D	0.000004	T	0.68851	0.3046	L	0.57536	1.79	0.80722	D	1	P;B	0.46912	0.886;0.014	B;B	0.32533	0.147;0.015	T	0.73827	-0.3860	10	0.54805	T	0.06	.	13.4074	0.60922	0.1482:0.0:0.8518:0.0	.	95;95	F8VXI5;P05091	.;ALDH2_HUMAN	H	76;95;95	ENSP00000261733:R95H	ENSP00000261733:R95H	R	+	2	0	ALDH2;RP11-162P23.2	110705409	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.595000	0.82710	1.352000	0.45808	0.651000	0.88453	CGC	ALDH2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000111275		0.637	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1		0	37	0	G	NM_000690		112221026	1			no_errors	ENST00000261733	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	A	A	112221026	G	A	112221026	3	1	85	1	0	0	0	0	1	0	0	0	496	1087	38	1	294	1	ALDH2	12	112221026	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	262250	112221026	21630869	206	22756											
NAA25	80018	genome.wustl.edu	37	chr12	112509837	112509837	+	Frame_Shift_Del	DEL	C	C	-																															tataaacttcacagctttttCtgcagaataatgtacttctc																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:112509837delC	ENST00000261745.4	-	10	1146	c.898delG	c.(898-900)gaafs	p.E300fs	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	300						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACAGCTTTTTCTGCAGAATAA	0.408																																																	0													82	69	74					12																	112509837		2203	4300	6503	SO:0001589	frameshift_variant	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"N(alpha)-acetyltransferase subunits"	25783	protein-coding gene	gene with protein product		612755	"chromosome 12 open reading frame 30"	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.898delG	12.37:g.112509837delC	ENSP00000261745:p.Glu300fs		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Frame_Shift_Del	DEL	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.E300fs	ENST00000261745.4	37	c.898	CCDS9159.1	12																																																																																			NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat	ENSG00000111300		0.408	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1		0	34	0	C	NM_024953		112509837	-1	tier1		no_errors	ENST00000261745	ensembl	human	known	74_37	frame_shift_del	10.81	33	4	DEL	1.000	-	-	112509837	C	-	112509837	7	5	85	1	0	1	0	1	0	0	0	0	10159	922	32	0	2080	0	NAA25	12	112509837	Frame_Shift_Del	DEL	C	TCGA-L5-A8NK-01A-21D-A37C-09	288811	112509837	21342058	207	22757											
RBM19	9904	genome.wustl.edu	37	chr12	114397134	114397134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctcagcatccaggccatCattcgcccaagtggctgcct	7	8	11	15	1	2	0	2	0	0	0	4	0	3	0	4	3	2	3	4	3	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:114397134C>T	ENST00000545145.2	-	5	532	c.454G>A	c.(454-456)Gat>Aat	p.D152N	RBM19_ENST00000261741.5_Missense_Mutation_p.D152N|RBM19_ENST00000392561.3_Missense_Mutation_p.D152N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	152					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCAGGCCATCATTCGCCCAA	0.607																																																	0													95	87	89					12																	114397134		2203	4300	6503	SO:0001583	missense	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.454G>A	12.37:g.114397134C>T	ENSP00000442053:p.Asp152Asn		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.D152N	ENST00000545145.2	37	c.454	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987406	0.74589	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08634	3.07;3.07;3.07	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24368	-1.0162	10	0.66056	D	0.02	-32.6209	18.8999	0.92439	0.0:1.0:0.0:0.0	.	152	Q9Y4C8	RBM19_HUMAN	N	152	ENSP00000442053:D152N;ENSP00000376344:D152N;ENSP00000261741:D152N	ENSP00000261741:D152N	D	-	1	0	RBM19	112881517	1.000000	0.71417	0.103000	0.21229	0.113000	0.19764	7.181000	0.77682	2.466000	0.83321	0.650000	0.86243	GAT	RBM19	-	NULL	ENSG00000122965		0.607	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	-	0	49	0	C	NM_016196		114397134	-1	tier1	-	no_errors	ENST00000261741	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	T	T	114397134	C	T	114397134	3	4	85	1	0	0	0	0	1	0	0	0	13166	826	29	3	2508	3	RBM19	12	114397134	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1887297	114397134	19454761	208	22758											
NOC4L	79050	genome.wustl.edu	37	chr12	132629510	132629510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctgccctctgaggagatgGtcatgacaggtgagccctgg	8	8	15	10	0	2	4	1	3	1	1	2	5	2	4	2	4	3	1	2	4	0	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:132629510G>A	ENST00000330579.1	+	2	270	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	DDX51_ENST00000397333.3_5'Flank	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	77					rRNA processing (GO:0006364)	integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TGAGGAGATGGTCATGACAGG	0.652																																																	0													36	34	34					12																	132629510		2187	4292	6479	SO:0001583	missense	0				CCDS9277.1	12q24.33	2011-08-12			ENSG00000184967	ENSG00000184967			28461	protein-coding gene	gene with protein product		612819				12446671	Standard	NM_024078		Approved	MGC3162, NET49, UTP19	uc001ujz.1	Q9BVI4	OTTHUMG00000168260	ENST00000330579.1:c.229G>A	12.37:g.132629510G>A	ENSP00000328854:p.Val77Ile		Q8N2S5|Q96I14	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.V77I	ENST00000330579.1	37	c.229	CCDS9277.1	12	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980823	0.18812	.	.	ENSG00000184967	ENST00000330579;ENST00000541954	T	0.30182	1.54	4.59	1.72	0.24424	Armadillo-like helical (1);	0.983012	0.08341	N	0.960885	T	0.24547	0.0595	L	0.51422	1.61	0.09310	N	1	B	0.26318	0.146	B	0.19666	0.026	T	0.27331	-1.0077	10	0.34782	T	0.22	-37.6275	3.9713	0.09454	0.2762:0.0:0.5214:0.2024	.	77	Q9BVI4	NOC4L_HUMAN	I	77;2	ENSP00000328854:V77I	ENSP00000328854:V77I	V	+	1	0	NOC4L	131195463	0.013000	0.17824	0.001000	0.08648	0.002000	0.02628	1.749000	0.38319	0.376000	0.24707	-0.339000	0.08088	GTC	NOC4L	-	superfamily_ARM-type_fold	ENSG00000184967		0.652	NOC4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOC4L	HGNC	protein_coding	OTTHUMT00000398999.1	-	0	53	0	G	NM_024078		132629510	1	tier1	-	no_errors	ENST00000330579	ensembl	human	known	74_37	missense	29.03	44	18	SNP	0.000	A	A	132629510	G	A	132629510	3	1	85	1	0	0	0	0	1	0	0	0	10554	1261	44	3	235	3	NOC4L	12	132629510	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	18232376	132629510	1222385	209	22759											
POLE	5426	genome.wustl.edu	37	chr12	133219481	133219481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccgaacttcgaaggtGtgtttggggggtggcaggag	6	10	18	7	2	1	0	0	0	1	0	2	3	1	1	1	6	2	2	1	6	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:133219481G>A	ENST00000320574.5	-	36	4696	c.4653C>T	c.(4651-4653)caC>caT	p.H1551H	POLE_ENST00000535270.1_Silent_p.H1524H|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1551					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTTCGAAGGTGTGTTTGGGGG	0.607								DNA polymerases (catalytic subunits)																																									0													92	89	90					12																	133219481		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4653C>T	12.37:g.133219481G>A			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.H1551	ENST00000320574.5	37	c.4653	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA_pol_e_suA_C	ENSG00000177084		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	25	0	G	NM_006231		133219481	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	silent	44.44	15	12	SNP	0.980	A	A	133219481	G	A	133219481	2	1	85	1	0	0	0	0	0	0	0	1	12235	1368	48	3		3	POLE	12	133219481	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	589971	133219481	632414	210	22760											
GOLGA3	2802	genome.wustl.edu	37	chr12	133365747	133365747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgcctcggcagtccgcttctCcccgtgcacttgcatcagct	4	10	9	18	4	2	0	1	0	1	0	5	0	3	0	4	1	3	5	4	1	0	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:133365747C>G	ENST00000450791.2	-	12	2860	c.2677G>C	c.(2677-2679)Gag>Cag	p.E893Q	GOLGA3_ENST00000537452.1_Missense_Mutation_p.E893Q|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E893Q|GOLGA3_ENST00000204726.3_Missense_Mutation_p.E893Q|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E893Q			Q08378	GOGA3_HUMAN	golgin A3	893					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCCGCTTCTCCCCGTGCACT	0.637																																																	0													63	58	60					12																	133365747		2203	4299	6502	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2677G>C	12.37:g.133365747C>G	ENSP00000410378:p.Glu893Gln		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.E893Q	ENST00000450791.2	37	c.2677	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174084	0.78452	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.34275	1.85;1.85;1.84;1.37;1.37	5.52	5.52	0.82312	.	0.090748	0.85682	D	0.000000	T	0.59878	0.2226	M	0.72894	2.215	0.80722	D	1	D;D;D	0.67145	0.991;0.991;0.996	P;P;D	0.63703	0.876;0.837;0.917	T	0.61262	-0.7098	10	0.59425	D	0.04	.	19.4375	0.94801	0.0:1.0:0.0:0.0	.	893;893;893	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	Q	893	ENSP00000204726:E893Q;ENSP00000410378:E893Q;ENSP00000409303:E893Q;ENSP00000442143:E893Q;ENSP00000442603:E893Q	ENSP00000204726:E893Q	E	-	1	0	GOLGA3	131875820	1.000000	0.71417	0.992000	0.48379	0.106000	0.19336	7.739000	0.84976	2.610000	0.88304	0.563000	0.77884	GAG	GOLGA3	-	superfamily_Prefoldin	ENSG00000090615		0.637	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	30	0	C	NM_005895		133365747	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	G	G	133365747	C	G	133365747	3	3	85	1	0	0	0	0	1	0	0	0	6580	864	30	5	2005	5	GOLGA3	12	133365747	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	146266	133365747	486148	211	22761											
GOLGA3	2802	genome.wustl.edu	37	chr12	133365805	133365805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctccgagtccagcctcttCctggtggctttcagctcact	5	12	9	15	1	3	0	2	0	1	0	6	1	6	0	4	2	3	3	4	2	0	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr12:133365805C>A	ENST00000450791.2	-	12	2802	c.2619G>T	c.(2617-2619)agG>agT	p.R873S	GOLGA3_ENST00000537452.1_Missense_Mutation_p.R873S|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R873S|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R873S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R873S			Q08378	GOGA3_HUMAN	golgin A3	873					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCAGCCTCTTCCTGGTGGCTT	0.642																																																	0													49	44	46					12																	133365805		2202	4300	6502	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2619G>T	12.37:g.133365805C>A	ENSP00000410378:p.Arg873Ser		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R873S	ENST00000450791.2	37	c.2619	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071965	0.36566	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32272	1.97;1.97;1.97;1.46;1.46	5.42	4.52	0.55395	.	0.132773	0.64402	D	0.000002	T	0.21347	0.0514	L	0.29908	0.895	0.80722	D	1	P;B;B	0.34955	0.477;0.204;0.199	B;B;B	0.33620	0.115;0.115;0.167	T	0.05241	-1.0897	10	0.59425	D	0.04	.	8.1791	0.31300	0.0:0.7561:0.0:0.2439	.	873;873;873	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	S	873	ENSP00000204726:R873S;ENSP00000410378:R873S;ENSP00000409303:R873S;ENSP00000442143:R873S;ENSP00000442603:R873S	ENSP00000204726:R873S	R	-	3	2	GOLGA3	131875878	1.000000	0.71417	0.908000	0.35775	0.045000	0.14185	0.921000	0.28718	1.267000	0.44247	0.563000	0.77884	AGG	GOLGA3	-	superfamily_Prefoldin	ENSG00000090615		0.642	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	43	0	C	NM_005895		133365805	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A	A	133365805	C	A	133365805	3	1	85	1	0	0	0	0	1	0	0	0	6580	854	30	3	2063	3	GOLGA3	12	133365805	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	58	133365805	486090	212	22762											
SPATA13	221178	genome.wustl.edu	37	chr13	24798292	24798292	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctagacgctgacactgccGtatttcctcttgaaaccaaa	12	10	6	13	2	1	3	0	2	1	1	2	3	2	3	4	0	2	2	4	0	4	4	rs565957473		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr13:24798292G>A	ENST00000382095.4	+	2	185				SPATA13_ENST00000424834.2_Missense_Mutation_p.V409I|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.V409I|SPATA13_ENST00000382108.3_Missense_Mutation_p.V409I	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGACACTGCCGTATTTCCTCT	0.597																																																	0													40	42	41					13																	24798292		692	1591	2283	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-25323G>A	13.37:g.24798292G>A			A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V409I	ENST00000382095.4	37	c.1225	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.142912|2.142912	0.37825|0.37825	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000424834|ENST00000382108	.|T	.|0.76578	.|-1.03	4.45|4.45	1.41|1.41	0.22369|0.22369	.|.	.|0.867657	.|0.08990	.|U	.|0.864523	T|T	0.68256|0.68256	0.2981|0.2981	L|L	0.29908|0.29908	0.895|0.895	0.26088|0.26088	N|N	0.980991|0.980991	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.58160|0.58160	-0.7685|-0.7685	5|8	.|0.32370	.|T	.|0.25	.|.	8.1753|8.1753	0.31278|0.31278	0.0862:0.3009:0.6129:0.0|0.0862:0.3009:0.6129:0.0	.|.	.|.	.|.	.|.	H|I	446|409	.|ENSP00000371542:V409I	.|ENSP00000371542:V409I	R|V	+|+	2|1	0|0	SPATA13|SPATA13	23696292|23696292	0.038000|0.038000	0.19896|0.19896	0.005000|0.005000	0.12908|0.12908	0.073000|0.073000	0.16967|0.16967	1.204000|1.204000	0.32296|0.32296	0.810000|0.810000	0.34279|0.34279	0.478000|0.478000	0.44815|0.44815	CGT|GTA	SPATA13	-	NULL	ENSG00000182957		0.597	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0	67	0	G	NM_153023		24798292	1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	47.54	32	29	SNP	0.013	A	A	24798292	G	A	24798292	1	1	85	0	1	0	0	0	0	0	0	0	15047	1145	40	1		1	SPATA13	13	24798292	Intron	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		24798292	90371586	213	22763											
ATP8A2	51761	genome.wustl.edu	37	chr13	26343293	26343293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgggatgatccagacaGcccacgtgggtgtgggaatc	9	8	15	9	2	0	2	0	1	0	1	3	4	1	4	2	3	1	0	2	3	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr13:26343293G>A	ENST00000381655.2	+	26	2636	c.2494G>A	c.(2494-2496)Gcc>Acc	p.A832T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A792T|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	792					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GATCCAGACAGCCCACGTGGG	0.592																																																	0													99	108	105					13																	26343293		2160	4248	6408	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2494G>A	13.37:g.26343293G>A	ENSP00000371070:p.Ala832Thr		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A832T	ENST00000381655.2	37	c.2494	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.726926	0.96847	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.88201	-2.35;-2.35	6.17	6.17	0.99709	HAD-like domain (2);	0.116216	0.64402	D	0.000018	D	0.97170	0.9075	H	0.98276	4.19	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.996	D;D;D	0.74023	0.931;0.982;0.931	D	0.97672	1.0167	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	792;612;792	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	T	832;792;612	ENSP00000371070:A832T;ENSP00000255283:A792T	ENSP00000255283:A792T	A	+	1	0	ATP8A2	25241293	1.000000	0.71417	0.915000	0.36163	0.938000	0.57974	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCC	ATP8A2	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000132932		0.592	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	-	0	30	0	G	NM_016529		26343293	1	tier1	-	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	26343293	G	A	26343293	3	1	85	1	0	0	0	0	1	0	0	0	1194	971	34	3	2596	3	ATP8A2	13	26343293	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1545001	26343293	88826585	214	22764											
FLT3	2322	genome.wustl.edu	37	chr13	28626732	28626732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacgatcggctctggaacGctctcagatatgcagaccag	10	8	10	13	3	2	2	1	0	2	2	5	4	3	3	2	2	2	3	2	2	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr13:28626732G>A	ENST00000241453.7	-	5	645	c.564C>T	c.(562-564)agC>agT	p.S188S	FLT3_ENST00000537084.1_Silent_p.S188S|FLT3_ENST00000380982.4_Silent_p.S188S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	188					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCTGGAACGCTCTCAGATA	0.433			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													133	124	127					13																	28626732		2203	4300	6503	SO:0001819	synonymous_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.564C>T	13.37:g.28626732G>A			A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S188	ENST00000241453.7	37	c.564	CCDS31953.1	13																																																																																			FLT3	-	NULL	ENSG00000122025		0.433	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0	49	0	G			28626732	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	silent	44.64	31	25	SNP	0.059	A	A	28626732	G	A	28626732	2	1	85	1	0	0	0	0	0	0	0	1	5964	1078	38	1		1	FLT3	13	28626732	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2283439	28626732	86543146	215	22765											
NBEA	26960	genome.wustl.edu	37	chr13	35733522	35733522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcaacagaagtaaagctcGatgatatggatttatcaccg	16	9	9	7	2	1	2	1	1	0	1	2	4	1	3	1	1	3	3	1	1	7	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr13:35733522G>A	ENST00000400445.3	+	22	3748	c.3214G>A	c.(3214-3216)Gat>Aat	p.D1072N	NBEA_ENST00000540320.1_Missense_Mutation_p.D1072N|NBEA_ENST00000379939.2_Missense_Mutation_p.D1072N|NBEA_ENST00000310336.4_Missense_Mutation_p.D1072N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1072					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAAAGCTCGATGATATGGA	0.403																																																	0													119	114	116					13																	35733522		1885	4110	5995	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3214G>A	13.37:g.35733522G>A	ENSP00000383295:p.Asp1072Asn		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.D1072N	ENST00000400445.3	37	c.3214	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521223	0.44866	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.1	5.1	0.69264	.	0.059810	0.64402	D	0.000005	T	0.45054	0.1323	N	0.19112	0.55	0.80722	D	1	B	0.12630	0.006	B	0.06405	0.002	T	0.27226	-1.0080	10	0.29301	T	0.29	.	18.505	0.90894	0.0:0.0:1.0:0.0	.	1072	Q5T321	.	N	1072	ENSP00000440951:D1072N;ENSP00000383295:D1072N;ENSP00000369271:D1072N;ENSP00000308534:D1072N	ENSP00000308534:D1072N	D	+	1	0	NBEA	34631522	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.318000	0.79029	2.374000	0.81015	0.561000	0.74099	GAT	NBEA	-	NULL	ENSG00000172915		0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	51	0	G	NM_015678		35733522	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A	A	35733522	G	A	35733522	3	1	85	1	0	0	0	0	1	0	0	0	10225	1058	37	1	3300	1	NBEA	13	35733522	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	7106790	35733522	79436356	216	22766											
NALCN	259232	genome.wustl.edu	37	chr13	101710386	101710386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgacagcgtggggctcAggagctgctgctggctgctt	5	9	16	11	2	1	0	1	0	0	0	2	3	2	1	1	4	5	6	1	4	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr13:101710386A>G	ENST00000251127.6	-	43	5009	c.4928T>C	c.(4927-4929)cTg>cCg	p.L1643P	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1643					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGTGGGGCTCAGGAGCTGCTG	0.557																																																	0													68	65	66					13																	101710386		2203	4300	6503	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4928T>C	13.37:g.101710386A>G	ENSP00000251127:p.Leu1643Pro		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L1643P	ENST00000251127.6	37	c.4928	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473792	0.63737	.	.	ENSG00000102452	ENST00000251127	D	0.97906	-4.6	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	L	0.43923	1.385	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.98821	1.0747	10	0.59425	D	0.04	.	15.2261	0.73352	1.0:0.0:0.0:0.0	.	1643	Q8IZF0	NALCN_HUMAN	P	1643	ENSP00000251127:L1643P	ENSP00000251127:L1643P	L	-	2	0	NALCN	100508387	1.000000	0.71417	0.995000	0.50966	0.965000	0.64279	7.061000	0.76699	1.987000	0.57996	0.533000	0.62120	CTG	NALCN	-	NULL	ENSG00000102452		0.557	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2		0	26	0	A	NM_052867		101710386	-1			no_errors	ENST00000251127	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	G	G	101710386	A	G	101710386	3	3	85	1	0	0	0	0	1	0	0	0	10186	188	7	4	296	4	NALCN	13	101710386	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	65976864	101710386	13459492	217	22767											
FAM155A	728215	genome.wustl.edu	37	chr13	108518473	108518473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcttggcagagtttcctaGaaaaagagccttgccccggt	9	9	13	10	1	0	3	0	0	0	3	1	3	1	3	4	3	2	3	4	3	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr13:108518473G>C	ENST00000375915.2	-	1	610	c.472C>G	c.(472-474)Cta>Gta	p.L158V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	158						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGTTTCCTAGAAAAAGAGCC	0.697																																																	0													15	21	19					13																	108518473		2162	4207	6369	SO:0001583	missense	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.472C>G	13.37:g.108518473G>C	ENSP00000365080:p.Leu158Val		B2RUV1|B7Z334	Missense_Mutation	SNP	NULL	p.L158V	ENST00000375915.2	37	c.472	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.102011	0.00360	.	.	ENSG00000204442	ENST00000375915	T	0.10099	2.91	5.59	4.75	0.60458	.	0.297796	0.26983	N	0.021520	T	0.08846	0.0219	L	0.27053	0.805	0.25853	N	0.983913	B	0.30914	0.3	B	0.33454	0.164	T	0.28299	-1.0048	10	0.16420	T	0.52	.	13.5589	0.61777	0.0744:0.0:0.9256:0.0	.	158	B1AL88	F155A_HUMAN	V	158	ENSP00000365080:L158V	ENSP00000365080:L158V	L	-	1	2	FAM155A	107316474	1.000000	0.71417	0.982000	0.44146	0.017000	0.09413	3.329000	0.52060	1.378000	0.46305	0.561000	0.74099	CTA	FAM155A	-	NULL	ENSG00000204442		0.697	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	-	0	38	0	G	NM_001080396		108518473	-1	tier1	-	no_errors	ENST00000375915	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	C	C	108518473	G	C	108518473	3	2	85	1	0	0	0	0	1	0	0	0	5484	933	33	5	916	5	FAM155A	13	108518473	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	6808087	108518473	6651405	218	22768											
OR4K14	122740	genome.wustl.edu	37	chr14	20483328	20483328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcaacacaaattctgacaCcaaggaatagttctgtgggt	14	10	9	8	0	2	1	0	1	2	0	2	2	2	2	1	2	2	2	1	2	5	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:20483328C>T	ENST00000305045.2	-	1	24	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AATTCTGACACCAAGGAATAG	0.383																																																	0													44	45	45					14																	20483328		2177	4286	6463	SO:0001583	missense	0				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.25G>A	14.37:g.20483328C>T	ENSP00000305011:p.Val9Met		Q6IEU1|Q96R71	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V9M	ENST00000305045.2	37	c.25	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	9.801	1.180501	0.21787	.	.	ENSG00000169484	ENST00000305045	T	0.00892	5.57	4.15	3.25	0.37280	.	0.000000	0.34676	N	0.003763	T	0.02230	0.0069	M	0.86740	2.835	0.23309	N	0.997932	P	0.50819	0.939	B	0.42555	0.391	T	0.35871	-0.9771	10	0.72032	D	0.01	.	9.1035	0.36683	0.2182:0.7818:0.0:0.0	.	9	Q8NGD5	OR4KE_HUMAN	M	9	ENSP00000305011:V9M	ENSP00000305011:V9M	V	-	1	0	OR4K14	19553168	0.138000	0.22547	0.683000	0.30040	0.034000	0.12701	1.246000	0.32803	0.928000	0.37168	0.603000	0.83216	GTG	OR4K14	-	NULL	ENSG00000169484		0.383	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	-	0	27	0	C			20483328	-1	tier1	-	no_errors	ENST00000305045	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.878	T	T	20483328	C	T	20483328	3	4	85	1	0	0	0	0	1	0	0	0	11108	507	18	3	910	3	OR4K14	14	20483328	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09		20483328	86866212	219	22769											
OR5AU1	390445	genome.wustl.edu	37	chr14	21623201	21623201	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggatcaccactgtgtaGatgacagcaactgtgcggtc	10	9	12	10	1	1	2	1	1	0	1	2	3	1	3	1	2	3	2	1	2	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:21623201G>T	ENST00000304418.3	-	1	1021	c.984C>A	c.(982-984)atC>atA	p.I328I		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCACTGTGTAGATGACAGCAA	0.488																																																	0													111	105	107					14																	21623201		2203	4300	6503	SO:0001819	synonymous_variant	0			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.984C>A	14.37:g.21623201G>T			B2RP78|Q6IEU2|Q96R10	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I328	ENST00000304418.3	37	c.984	CCDS32042.1	14																																																																																			OR5AU1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000169327		0.488	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AU1	HGNC	protein_coding	OTTHUMT00000410213.1	-	0	49	0	G			21623201	-1	tier1	-	no_errors	ENST00000304418	ensembl	human	known	74_37	silent	28.30	38	15	SNP	0.989	T	T	21623201	G	T	21623201	2	4	85	1	0	0	0	0	0	0	0	1	11186	932	33	3		3	OR5AU1	14	21623201	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1139873	21623201	85726339	220	22770											
MMP14	4323	genome.wustl.edu	37	chr14	23306043	23306043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccatgtctcccgccccaaGacccccccgttgtctcctgc	5	8	7	21	2	2	1	0	0	2	1	4	2	2	1	8	0	1	1	8	0	1	1	rs17884647		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:23306043G>A	ENST00000311852.6	+	1	278	c.17G>A	c.(16-18)aGa>aAa	p.R6K	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	6			R -> K (in dbSNP:rs17884647). {ECO:0000269|Ref.8}.		angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R6K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CCCGCCCCAAGACCCCCCCGT	0.731											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	lung(1)											28	23	25					14																	23306043		2203	4298	6501	SO:0001583	missense	0				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"membrane type 1 metalloprotease"	600754	"matrix metalloproteinase 14 (membrane-inserted)"			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.17G>A	14.37:g.23306043G>A	ENSP00000308208:p.Arg6Lys	762	A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R6K	ENST00000311852.6	37	c.17	CCDS9577.1	14	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305447	0.40795	.	.	ENSG00000157227	ENST00000311852;ENST00000547279	T;T	0.61392	2.5;0.11	4.53	2.58	0.30949	.	1.914000	0.02309	N	0.071871	T	0.37732	0.1014	N	0.08118	0	0.20196	N	0.99992	B	0.02656	0.0	B	0.01281	0.0	T	0.26467	-1.0102	10	0.05721	T	0.95	.	11.4536	0.50167	0.0:0.5026:0.4973:0.0	rs17884647	6	P50281	MMP14_HUMAN	K	6	ENSP00000308208:R6K;ENSP00000450323:R6K	ENSP00000308208:R6K	R	+	2	0	MMP14	22375883	0.008000	0.16893	0.935000	0.37517	0.977000	0.68977	0.664000	0.25068	0.523000	0.28482	0.655000	0.94253	AGA	MMP14	-	pirsf_Pept_M10A_Metazoans	ENSG00000157227		0.731	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP14	HGNC	protein_coding	OTTHUMT00000071660.3	-	0	146	0	G	NM_004995		23306043	1	tier1	rs17884647	no_errors	ENST00000311852	ensembl	human	known	74_37	missense	21.84	161	45	SNP	0.673	A	A	23306043	G	A	23306043	3	1	85	1	0	0	0	0	1	0	0	0	9691	942	33	3	19	3	MMP14	14	23306043	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1682842	23306043	84043497	221	22771											
JUB	84962	genome.wustl.edu	37	chr14	23450684	23450685	+	Frame_Shift_Del	DEL	CA	CA	-																															gcgcagtccccgtagccggtCacagagtgtcgtccgggttg																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:23450684_23450685delCA	ENST00000262713.2	-	1	1166_1167	c.791_792delTG	c.(790-792)gtgfs	p.V264fs	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.V264fs|RP11-298I3.5_ENST00000555074.1_Intron|RP11-298I3.4_ENST00000555294.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	264	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CGTAGCCGGTCACAGAGTGTCG	0.728																																																	0																																										SO:0001589	frameshift_variant	0			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"jub, ajuba homolog (Xenopus laevis)"	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.791_792delTG	14.37:g.23450686_23450687delCA	ENSP00000262713:p.Val264fs		A8MX18|D3DS37	Frame_Shift_Del	DEL	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.V264fs	ENST00000262713.2	37	c.792_791	CCDS9581.1	14																																																																																			AJUBA	-	NULL	ENSG00000129474		0.728	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2		0	21	0	CA			23450685	-1	tier1		no_errors	ENST00000262713	ensembl	human	known	74_37	frame_shift_del	38.10	13	8	DEL	1.000:1.000	-	-	23450685	CA	-	23450684	7	5	85	1	0	1	0	1	0	0	0	0	7995	813	29	0	856	0	JUB	14	23450684	Frame_Shift_Del	DEL	CA	TCGA-L5-A8NK-01A-21D-A37C-09	144641	23450684	83898856	222	22772											
KIAA0391	9692	genome.wustl.edu	37	chr14	35596726	35596726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaccatagagtctattcAgctgagtccagaagaatatg	17	9	8	7	0	2	4	1	1	1	3	3	4	3	4	2	0	2	1	2	0	7	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:35596726A>G	ENST00000557565.1	+	4	1457	c.1076A>G	c.(1075-1077)cAg>cGg	p.Q359R	KIAA0391_ENST00000250377.7_Missense_Mutation_p.Q264R|KIAA0391_ENST00000605870.1_5'UTR|KIAA0391_ENST00000603544.1_Missense_Mutation_p.Q343R|KIAA0391_ENST00000321130.10_Missense_Mutation_p.Q343R|KIAA0391_ENST00000603588.1_3'UTR|KIAA0391_ENST00000604948.1_Missense_Mutation_p.Q264R|KIAA0391_ENST00000534898.4_Missense_Mutation_p.Q359R	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	359					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GAGTCTATTCAGCTGAGTCCA	0.373																																																	0													77	75	76					14																	35596726		2203	4300	6503	SO:0001583	missense	0			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"mitochondrial RNase P subunit 3", "proteinaceous RNase P"	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1076A>G	14.37:g.35596726A>G	ENSP00000454657:p.Gln359Arg		B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	NULL	p.Q359R	ENST00000557565.1	37	c.1076	CCDS32063.1	14	.	.	.	.	.	.	.	.	.	.	A	7.748	0.702696	0.15172	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121	T;T;T	0.42900	0.97;0.96;0.96	5.63	3.29	0.37713	.	0.344687	0.31507	N	0.007524	T	0.24586	0.0596	N	0.14661	0.345	0.20074	N	0.999934	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.14924	-1.0455	10	0.36615	T	0.2	-0.2009	9.9089	0.41392	0.8617:0.0:0.1383:0.0	.	343;359	O15091-2;O15091	.;MRRP3_HUMAN	R	264;264;343;359;343	ENSP00000250377:Q264R;ENSP00000324697:Q343R;ENSP00000440915:Q359R	ENSP00000250377:Q264R	Q	+	2	0	KIAA0391	34666477	0.973000	0.33851	0.243000	0.24186	0.395000	0.30598	4.314000	0.59166	0.416000	0.25844	0.528000	0.53228	CAG	KIAA0391	-	NULL	ENSG00000100890		0.373	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KIAA0391	HGNC	protein_coding	OTTHUMT00000411280.1	-	0	69	0	A	NM_014672		35596726	1	tier1	-	no_errors	ENST00000534898	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.806	G	G	35596726	A	G	35596726	3	3	85	1	0	0	0	0	1	0	0	0	8199	188	7	4	1086	4	KIAA0391	14	35596726	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	12146042	35596726	71752814	223	22773											
MDGA2	161357	genome.wustl.edu	37	chr14	47613337	47613337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcagatccttgcagcaagaCctcctggccacgtctccagc	9	8	8	16	1	2	2	1	0	1	2	5	2	4	2	5	1	3	2	5	1	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:47613337C>T	ENST00000399232.2	-	4	893	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	MDGA2_ENST00000426342.1_5'UTR|MDGA2_ENST00000357362.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.V246I	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	177	Ig-like 2.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGCAGCAAGACCTCCTGGCCA	0.433																																																	0													136	121	126					14																	47613337		692	1591	2283	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.529G>A	14.37:g.47613337C>T	ENSP00000382178:p.Val177Ile		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.V246I	ENST00000399232.2	37	c.736		14	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912661	0.33721	.	.	ENSG00000139915	ENST00000439988;ENST00000399232	T;T	0.41758	0.99;0.99	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.132546	0.32161	U	0.006486	T	0.33644	0.0870	L	0.33485	1.01	0.80722	D	1	B	0.14805	0.011	B	0.27608	0.081	T	0.09818	-1.0657	10	0.24483	T	0.36	.	11.8787	0.52562	0.0:0.9201:0.0:0.0799	.	177	Q7Z553	MDGA2_HUMAN	I	177;246	ENSP00000400011:V177I;ENSP00000382178:V246I	ENSP00000382178:V246I	V	-	1	0	MDGA2	46683087	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.067000	0.50010	2.718000	0.92993	0.585000	0.79938	GTC	MDGA2	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000272781		0.433	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	61	0	C	NM_182830		47613337	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	T	T	47613337	C	T	47613337	3	4	85	1	0	0	0	0	1	0	0	0	9445	507	18	3	2397	3	MDGA2	14	47613337	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	12016611	47613337	59736203	224	22774											
GPHN	10243	genome.wustl.edu	37	chr14	67291233	67291233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaaaaggaacttaatttGatattaacaactggaggaac	18	10	9	4	0	0	2	0	2	0	0	0	6	0	5	0	3	4	0	0	3	8	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:67291233G>C	ENST00000315266.5	+	4	1364	c.243G>C	c.(241-243)ttG>ttC	p.L81F	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000459628.1_Intron|GPHN_ENST00000543237.1_Missense_Mutation_p.L81F|GPHN_ENST00000305960.9_Intron|GPHN_ENST00000478722.1_Missense_Mutation_p.L81F	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	81	MPT Mo-transferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTTAATTTGATATTAACAA	0.368			T	MLL	AL																																			Dom	yes		14	14q24	10243	gephyrin (GPH)		L	0													101	94	97					14																	67291233		2203	4300	6503	SO:0001583	missense	0			AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.243G>C	14.37:g.67291233G>C	ENSP00000312771:p.Leu81Phe		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	p.L81F	ENST00000315266.5	37	c.243	CCDS32103.1	14	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430040	0.62844	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000555456	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.48	2.68	0.31781	Molybdenum cofactor synthesis (1);Molybdenum cofactor biosynthesis, conserved site (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.87977	0.6314	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.85130	0.997;0.968;0.994	D	0.87553	0.2466	10	0.72032	D	0.01	-3.0175	11.3188	0.49407	0.147:0.0:0.853:0.0	.	81;81;81	F5H039;Q9NQX3;Q9NQX3-2	.;GEPH_HUMAN;.	F	81;81;81;14	ENSP00000312771:L81F;ENSP00000417901:L81F;ENSP00000438404:L81F;ENSP00000450706:L14F	ENSP00000312771:L81F	L	+	3	2	GPHN	66360986	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	1.354000	0.34056	0.294000	0.22547	0.305000	0.20034	TTG	GPHN	-	pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis	ENSG00000171723		0.368	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPHN	HGNC	protein_coding	OTTHUMT00000074299.2	-	0	32	0	G	NM_020806		67291233	1	tier1	-	no_errors	ENST00000478722	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	C	C	67291233	G	C	67291233	3	2	85	1	0	0	0	0	1	0	0	0	6636	1281	45	5	257	5	GPHN	14	67291233	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	19677896	67291233	40058307	225	22775											
ATP6V1D	51382	genome.wustl.edu	37	chr14	67814144	67814144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtcagttccttcatggtAatgttcaaatactggcaaag	12	13	8	8	0	3	0	3	0	0	0	4	0	4	0	1	2	1	4	1	2	4	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:67814144A>G	ENST00000216442.7	-	5	884	c.334T>C	c.(334-336)Tac>Cac	p.Y112H	ATP6V1D_ENST00000554236.1_Missense_Mutation_p.Y112H|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.Y57H|ATP6V1D_ENST00000555474.1_Intron	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	112					cellular iron ion homeostasis (GO:0006879)|cilium assembly (GO:0042384)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|protein localization to cilium (GO:0061512)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		CCTTCATGGTAATGTTCAAAT	0.343																																																	0													107	116	113					14																	67814144		2203	4300	6503	SO:0001583	missense	0			AF145316	CCDS9780.1	14q23-q24.2	2010-04-21	2002-08-29	2002-05-10	ENSG00000100554	ENSG00000100554		"ATPases / V-type"	13527	protein-coding gene	gene with protein product		609398	"ATPase, H+ transporting, lysosomal (vacuolar proton pump)"	ATP6M		9442887	Standard	NM_015994		Approved	VATD, VMA8	uc001xjf.3	Q9Y5K8		ENST00000216442.7:c.334T>C	14.37:g.67814144A>G	ENSP00000216442:p.Tyr112His		B2RE33|Q9Y688	Missense_Mutation	SNP	pfam_V_ATPase_D,tigrfam_V_ATPase_D	p.Y112H	ENST00000216442.7	37	c.334	CCDS9780.1	14	.	.	.	.	.	.	.	.	.	.	A	25.7	4.667630	0.88348	.	.	ENSG00000100554	ENST00000216442;ENST00000555431;ENST00000554236;ENST00000555723	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.74467	2.265	0.80722	D	1	B	0.29805	0.257	B	0.32090	0.14	T	0.65776	-0.6086	9	0.51188	T	0.08	-14.8978	16.8222	0.85835	1.0:0.0:0.0:0.0	.	112	Q9Y5K8	VATD_HUMAN	H	112;57;112;64	.	ENSP00000216442:Y112H	Y	-	1	0	ATP6V1D	66883897	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.963000	0.93385	2.371000	0.80710	0.533000	0.62120	TAC	ATP6V1D	-	pfam_V_ATPase_D,tigrfam_V_ATPase_D	ENSG00000100554		0.343	ATP6V1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1D	HGNC	protein_coding	OTTHUMT00000412511.1	-	0	66	0	A	NM_015994		67814144	-1	tier1	-	no_errors	ENST00000216442	ensembl	human	known	74_37	missense	5.75	82	5	SNP	1.000	G	G	67814144	A	G	67814144	3	3	85	1	0	0	0	0	1	0	0	0	1183	362	13	4	429	4	ATP6V1D	14	67814144	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	522911	67814144	39535396	226	22776											
MAP3K9	4293	genome.wustl.edu	37	chr14	71204982	71204982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatctcccgaggcaagCtccttctgaccaagcgtccc	7	9	7	18	2	3	1	1	1	2	0	6	2	5	1	5	1	2	2	5	1	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:71204982C>T	ENST00000554752.2	-	8	1823	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	MAP3K9_ENST00000381250.4_Silent_p.E608E|MAP3K9_ENST00000555993.2_Silent_p.E608E|MAP3K9_ENST00000553414.1_Silent_p.E350E|MAP3K9_ENST00000554146.1_Silent_p.E345E	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	608					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCGAGGCAAGCTCCTTCTGAC	0.502																																					GBM(114;411 1587 13539 28235 50070)												0													134	120	125					14																	71204982		2203	4300	6503	SO:0001819	synonymous_variant	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1824G>A	14.37:g.71204982C>T			A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.E608	ENST00000554752.2	37	c.1824		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11	ENSG00000006432		0.502	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	-	0	42	0	C			71204982	-1	tier1	-	no_errors	ENST00000555993	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.146	T	T	71204982	C	T	71204982	2	4	85	1	0	0	0	0	0	0	0	1	9295	796	28	3		3	MAP3K9	14	71204982	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	3390838	71204982	36144558	227	22777											
TMED10	10972	genome.wustl.edu	37	chr14	75601670	75601670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccaatgagacagaacattGaaaagatgctgaagtatagg	17	8	11	5	0	0	5	0	3	0	3	1	6	1	5	1	1	2	2	1	1	7	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:75601670G>A	ENST00000303575.4	-	5	629	c.578C>T	c.(577-579)tCa>tTa	p.S193L	RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_5'UTR	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	193	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		ACAGAACATTGAAAAGATGCT	0.408																																																	0													95	96	95					14																	75601670		2203	4300	6503	SO:0001583	missense	0			AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.578C>T	14.37:g.75601670G>A	ENSP00000303145:p.Ser193Leu		B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Missense_Mutation	SNP	pfam_GOLD,pfscan_GOLD	p.S193L	ENST00000303575.4	37	c.578	CCDS9840.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.297029	0.95574	.	.	ENSG00000170348	ENST00000303575	T	0.18657	2.2	6.04	6.04	0.98038	GOLD (2);	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.59268	-0.7486	10	0.87932	D	0	-26.9595	20.5948	0.99439	0.0:0.0:1.0:0.0	.	193	P49755	TMEDA_HUMAN	L	193	ENSP00000303145:S193L	ENSP00000303145:S193L	S	-	2	0	TMED10	74671423	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.810000	0.99221	2.873000	0.98535	0.563000	0.77884	TCA	TMED10	-	pfam_GOLD,pfscan_GOLD	ENSG00000170348		0.408	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED10	HGNC	protein_coding	OTTHUMT00000415034.1	-	0	33	0	G	NM_006827		75601670	-1	tier1	-	no_errors	ENST00000303575	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	A	A	75601670	G	A	75601670	3	1	85	1	0	0	0	0	1	0	0	0	16050	1294	45	3	85	3	TMED10	14	75601670	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4396688	75601670	31747870	228	22778											
EML5	161436	genome.wustl.edu	37	chr14	89171240	89171240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaatactatttcctggaGcccgctctcttcttttagaa	9	15	6	11	2	2	1	0	0	2	1	5	3	3	2	2	1	2	1	2	1	5	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:89171240G>T	ENST00000380664.5	-	13	2014	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	EML5_ENST00000352093.5_Missense_Mutation_p.A672D|EML5_ENST00000554922.1_Missense_Mutation_p.A672D			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	672						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATTTCCTGGAGCCCGCTCTCT	0.328																																																	0													161	143	149					14																	89171240		1808	4073	5881	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2015C>A	14.37:g.89171240G>T	ENSP00000370039:p.Ala672Asp		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A672D	ENST00000380664.5	37	c.2015	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098473	0.76870	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.34072	1.38;1.38;1.38	5.04	5.04	0.67666	HELP (1);	0.218004	0.38111	N	0.001814	T	0.58293	0.2112	M	0.83774	2.66	0.49915	D	0.99983	P	0.41102	0.738	P	0.54965	0.765	T	0.54002	-0.8358	10	0.14656	T	0.56	-10.7085	18.5812	0.91171	0.0:0.0:1.0:0.0	.	672	Q05BV3	EMAL5_HUMAN	D	672	ENSP00000451998:A672D;ENSP00000298315:A672D;ENSP00000370039:A672D	ENSP00000298315:A672D	A	-	2	0	EML5	88240993	1.000000	0.71417	0.971000	0.41717	0.954000	0.61252	9.188000	0.94921	2.615000	0.88500	0.557000	0.71058	GCT	EML5	-	pfam_HELP	ENSG00000165521		0.328	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	-	0	34	0	G			89171240	-1	tier1	-	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	89171240	G	T	89171240	3	4	85	1	0	0	0	0	1	0	0	0	5116	971	34	3	4042	3	EML5	14	89171240	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	13569570	89171240	18178300	229	22779											
DICER1	23405	genome.wustl.edu	37	chr14	95570227	95570227	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgctgtaagatctgctGaaacttcaacgtggagctta	12	13	9	7	1	2	2	1	1	1	1	2	3	2	3	0	1	5	4	0	1	5	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:95570227G>T	ENST00000526495.1	-	23	3797	c.3506C>A	c.(3505-3507)tCa>tAa	p.S1169*	DICER1_ENST00000393063.1_Nonsense_Mutation_p.S1169*|DICER1_ENST00000527414.1_Nonsense_Mutation_p.S1169*|DICER1_ENST00000541352.1_Nonsense_Mutation_p.S1169*|DICER1_ENST00000556045.1_Nonsense_Mutation_p.S67*|DICER1_ENST00000343455.3_Nonsense_Mutation_p.S1169*			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1169					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAGATCTGCTGAAACTTCAAC	0.423			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													85	84	85					14																	95570227		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3506C>A	14.37:g.95570227G>T	ENSP00000437256:p.Ser1169*		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Nonsense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.S1169*	ENST00000526495.1	37	c.3506	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	42	9.452609	0.99175	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	.	.	.	5.24	3.42	0.39159	.	0.563380	0.16132	N	0.228149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	1.4328	11.2734	0.49153	0.147:0.0:0.853:0.0	.	.	.	.	X	1169;1169;1169;1169;67;1169	.	ENSP00000343745:S1169X	S	-	2	0	DICER1	94639980	0.941000	0.31946	0.000000	0.03702	0.979000	0.70002	3.932000	0.56537	0.611000	0.30052	0.561000	0.74099	TCA	DICER1	-	NULL	ENSG00000100697		0.423	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	-	0	50	0	G			95570227	-1	tier1	-	no_errors	ENST00000343455	ensembl	human	known	74_37	nonsense	6.25	60	4	SNP	0.018	T	T	95570227	G	T	95570227	4	4	85	1	0	0	0	0	0	1	0	0	4535	1294	45	3	2290	3	DICER1	14	95570227	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	6398987	95570227	11779313	230	22780											
PPP1R13B	23368	genome.wustl.edu	37	chr14	104206306	104206306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttattgtcctctgccGgctcggcagtttggtgggtg	2	16	15	8	2	1	0	0	0	1	0	3	0	2	0	2	4	1	5	2	4	1	4	rs200606453		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr14:104206306G>A	ENST00000202556.9	-	12	2729	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.P235L	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	816	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GTCCTCTGCCGGCTCGGCAGT	0.602																																																	0								G	LEU/PRO	1,4095		0,1,2047	39	46	44		2447	5.3	0.9	14		44	1,8387		0,1,4193	yes	missense	PPP1R13B	NM_015316.2	98	0,2,6240	AA,AG,GG		0.0119,0.0244,0.016	benign	816/1091	104206306	2,12482	2048	4194	6242	SO:0001583	missense	0			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	14950	protein-coding gene	gene with protein product		606455	"protein phosphatase 1, regulatory (inhibitor) subunit 13B"			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.2447C>T	14.37:g.104206306G>A	ENSP00000202556:p.Pro816Leu		B2RMX5|O94870	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.P816L	ENST00000202556.9	37	c.2447	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581333	0.46006	2.44E-4	1.19E-4	ENSG00000088808	ENST00000202556;ENST00000423488	T;T	0.55413	0.71;0.52	5.27	5.27	0.74061	.	0.227351	0.45606	D	0.000351	T	0.43144	0.1234	L	0.47716	1.5	0.58432	D	0.999999	P	0.42161	0.772	B	0.30943	0.122	T	0.40590	-0.9555	10	0.27082	T	0.32	.	18.2339	0.89944	0.0:0.0:1.0:0.0	.	816	Q96KQ4	ASPP1_HUMAN	L	816;235	ENSP00000202556:P816L;ENSP00000395213:P235L	ENSP00000202556:P816L	P	-	2	0	PPP1R13B	103276059	1.000000	0.71417	0.889000	0.34880	0.193000	0.23685	5.493000	0.66899	2.610000	0.88304	0.561000	0.74099	CCG	PPP1R13B	-	NULL	ENSG00000088808		0.602	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	-	0	31	0	G	NM_015316		104206306	-1	tier1	rs200606453	no_errors	ENST00000202556	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.989	A	A	104206306	G	A	104206306	3	1	85	1	0	0	0	0	1	0	0	0	12399	1116	39	1	849	1	PPP1R13B	14	104206306	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	8636079	104206306	3143234	231	22781											
GABRB3	2562	genome.wustl.edu	37	chr15	27018791	27018791	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgggaagcccccgcctcaCctgcggggctcagagcctcg	5	4	14	18	4	2	1	2	0	0	1	3	2	2	2	6	3	3	1	6	3	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:27018791C>T	ENST00000311550.5	-	0	0				GABRB3_ENST00000299267.4_Splice_Site|GABRB3_ENST00000557641.1_Intron|GABRB3_ENST00000541819.2_Intron	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3						cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCCCGCCTCACCTGCGGGGCT	0.756																																																	0													11	13	12					15																	27018791		2122	4185	6307	SO:0001631	upstream_gene_variant	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4083	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 3"	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231		15.37:g.27018791C>T	Exception_encountered		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Splice_Site	SNP	-	e1+1	ENST00000311550.5	37	c.80+1	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880855	0.51801	.	.	ENSG00000166206	ENST00000299267	.	.	.	3.53	2.61	0.31194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8385	0.18621	0.0:0.7537:0.0:0.2463	.	.	.	.	.	-1	.	.	.	-	.	.	GABRB3	24569884	1.000000	0.71417	0.991000	0.47740	0.897000	0.52465	1.468000	0.35332	0.805000	0.34159	0.514000	0.50259	.	GABRB3	-	-	ENSG00000166206		0.756	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2		0	10	0	C			27018791	-1			no_errors	ENST00000299267	ensembl	human	known	74_37	splice_site	25.00	15	5	SNP	0.984	T	T	27018791	C	T	27018791	1	4	85	0	1	0	0	0	0	0	0	0	6192	521	18	3		3	GABRB3	15	27018791	5'Flank	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09		27018791	75512601	232	22782											
HERC2	8924	genome.wustl.edu	37	chr15	28501404	28501404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggctgttcaggaggatGctgcccagacctaaaccaag	11	8	11	11	0	2	1	2	0	0	1	2	3	2	3	3	3	3	3	3	3	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:28501404G>A	ENST00000261609.7	-	18	2685	c.2577C>T	c.(2575-2577)agC>agT	p.S859S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCAGGAGGATGCTGCCCAGAC	0.562																																																	0													19	19	19					15																	28501404		2161	4187	6348	SO:0001819	synonymous_variant	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.2577C>T	15.37:g.28501404G>A				Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.S859	ENST00000261609.7	37	c.2577	CCDS10021.1	15																																																																																			HERC2	-	NULL	ENSG00000128731		0.562	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	84	0	G	NM_004667		28501404	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	silent	11.36	117	15	SNP	0.911	A	A	28501404	G	A	28501404	2	1	85	1	0	0	0	0	0	0	0	1	7085	1310	46	3		3	HERC2	15	28501404	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1482613	28501404	74029988	233	22783											
MGA	23269	genome.wustl.edu	37	chr15	42040914	42040914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggacctcgattgttgttGattccagtgcagcagggttc	6	13	13	9	1	0	1	0	1	0	0	3	3	1	2	2	2	2	6	2	2	0	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:42040914G>C	ENST00000570161.1	+	15	5292	c.5292G>C	c.(5290-5292)ttG>ttC	p.L1764F	MGA_ENST00000545763.1_Missense_Mutation_p.L1555F|MGA_ENST00000219905.7_Missense_Mutation_p.L1764F|MGA_ENST00000389936.4_Intron|MGA_ENST00000566586.1_Missense_Mutation_p.L1555F			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGTTGTTGATTCCAGTGC	0.473																																																	0													109	97	101					15																	42040914		1962	4170	6132	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5292G>C	15.37:g.42040914G>C	ENSP00000457035:p.Leu1764Phe		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L1764F	ENST00000570161.1	37	c.5292	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980397	0.34942	.	.	ENSG00000174197	ENST00000219905;ENST00000545763	D;D	0.90004	-2.54;-2.6	5.68	3.81	0.43845	.	.	.	.	.	D	0.87857	0.6283	N	0.14661	0.345	0.21627	N	0.999611	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.77413	-0.2597	9	0.87932	D	0	.	7.1168	0.25421	0.1415:0.0:0.7198:0.1387	.	380;1555;1764	B4DVS1;F5H7K2;E7ENI0	.;.;.	F	1764;1555	ENSP00000219905:L1764F;ENSP00000442467:L1555F	ENSP00000219905:L1764F	L	+	3	2	MGA	39828206	1.000000	0.71417	0.996000	0.52242	0.552000	0.35366	2.484000	0.45242	0.760000	0.33108	-0.225000	0.12378	TTG	MGA	-	NULL	ENSG00000174197		0.473	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	65	0	G	NM_001164273.1		42040914	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	40.38	31	21	SNP	0.996	C	C	42040914	G	C	42040914	3	2	85	1	0	0	0	0	1	0	0	0	9578	1281	45	5	5350	5	MGA	15	42040914	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	13539510	42040914	60490478	234	22784			1	20		6	5	1410	N	G	1.915478e-09
MGA	23269	genome.wustl.edu	37	chr15	42041585	42041585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaaataacttatagctcagGaggacagcctgttggtacag	14	9	10	8	0	1	0	1	0	0	0	1	2	1	2	1	3	4	3	1	3	6	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:42041585G>C	ENST00000570161.1	+	16	5780	c.5780G>C	c.(5779-5781)gGa>gCa	p.G1927A	MGA_ENST00000545763.1_Missense_Mutation_p.G1718A|MGA_ENST00000219905.7_Missense_Mutation_p.G1927A|MGA_ENST00000389936.4_Missense_Mutation_p.G1888A|MGA_ENST00000566586.1_Missense_Mutation_p.G1718A			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATAGCTCAGGAGGACAGCCT	0.468																																																	0													50	47	48					15																	42041585		1886	4108	5994	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5780G>C	15.37:g.42041585G>C	ENSP00000457035:p.Gly1927Ala		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.G1927A	ENST00000570161.1	37	c.5780	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956428	0.53293	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.22134	1.97;1.97;1.97	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000088	T	0.31136	0.0787	N	0.19112	0.55	0.25442	N	0.988085	D;D;D;D	0.76494	0.991;0.99;0.999;0.999	P;P;D;D	0.83275	0.787;0.814;0.996;0.996	T	0.12993	-1.0526	10	0.72032	D	0.01	.	13.1246	0.59346	0.073:0.0:0.927:0.0	.	543;1718;1927;1888	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	A	1927;1888;1718	ENSP00000219905:G1927A;ENSP00000374586:G1888A;ENSP00000442467:G1718A	ENSP00000219905:G1927A	G	+	2	0	MGA	39828877	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.709000	0.47160	2.704000	0.92352	0.563000	0.77884	GGA	MGA	-	NULL	ENSG00000174197		0.468	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	38	0	G	NM_001164273.1		42041585	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	C	C	42041585	G	C	42041585	3	2	85	1	0	0	0	0	1	0	0	0	9578	1174	41	5	5842	5	MGA	15	42041585	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	671	42041585	60489807	235	22785			1	20		6	5	1410	N	G	1.915478e-09
MGA	23269	genome.wustl.edu	37	chr15	42041731	42041731	+	Missense_Mutation	SNP	G	G	C																															agagagaatctcagaatccaGaccagaaagatgaaacaaac																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:42041731G>C	ENST00000570161.1	+	16	5926	c.5926G>C	c.(5926-5928)Gac>Cac	p.D1976H	MGA_ENST00000545763.1_Missense_Mutation_p.D1767H|MGA_ENST00000219905.7_Missense_Mutation_p.D1976H|MGA_ENST00000389936.4_Missense_Mutation_p.D1937H|MGA_ENST00000566586.1_Missense_Mutation_p.D1767H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGAATCCAGACCAGAAAGA	0.423																																																	0													46	45	45					15																	42041731		1865	4101	5966	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5926G>C	15.37:g.42041731G>C	ENSP00000457035:p.Asp1976His		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.D1976H	ENST00000570161.1	37	c.5926	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235965	0.39498	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.23552	1.9;1.9;1.9	5.72	5.72	0.89469	.	0.331298	0.25869	N	0.027779	T	0.31389	0.0795	N	0.19112	0.55	0.21897	N	0.999484	D;D;D;D	0.76494	0.964;0.989;0.999;0.999	B;P;D;D	0.65573	0.436;0.723;0.936;0.936	T	0.16482	-1.0401	10	0.72032	D	0.01	.	9.1816	0.37146	0.0725:0.0:0.7157:0.2118	.	592;1767;1976;1937	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	1976;1937;1767	ENSP00000219905:D1976H;ENSP00000374586:D1937H;ENSP00000442467:D1767H	ENSP00000219905:D1976H	D	+	1	0	MGA	39829023	0.999000	0.42202	1.000000	0.80357	0.787000	0.44495	2.007000	0.40883	2.704000	0.92352	0.563000	0.77884	GAC	MGA	-	NULL	ENSG00000174197		0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	27	0	G	NM_001164273.1		42041731	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.859	C	C	42041731	G	C	42041731	3	2	85	1	0	0	0	0	1	0	0	0	9578	942	33	5	5988	5	MGA	15	42041731	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	146	42041731	60489661	236	22786	89	2	1	20		6	5	1410	N	G	1.915478e-09
MGA	23269	genome.wustl.edu	37	chr15	42041736	42041736	+	Frame_Shift_Del	DEL	G	G	-																															gaatctcagaatccagaccaGaaagatgaaacaaactcaat																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:42041736delG	ENST00000570161.1	+	16	5931	c.5931delG	c.(5929-5931)cagfs	p.Q1977fs	MGA_ENST00000545763.1_Frame_Shift_Del_p.Q1768fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.Q1977fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.Q1938fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.Q1768fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCCAGACCAGAAAGATGAAA	0.423																																																	0													48	47	47					15																	42041736		1863	4097	5960	SO:0001589	frameshift_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5931delG	15.37:g.42041736delG	ENSP00000457035:p.Gln1977fs		Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.D1979fs	ENST00000570161.1	37	c.5931	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.423	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1		0	25	0	G	NM_001164273.1		42041736	1	tier1		no_errors	ENST00000219905	ensembl	human	known	74_37	frame_shift_del	29.17	17	7	DEL	0.998	-	-	42041736	G	-	42041736	7	5	85	1	0	1	0	1	0	0	0	0	9578	933	33	0	5993	0	MGA	15	42041736	Frame_Shift_Del	DEL	G	TCGA-L5-A8NK-01A-21D-A37C-09	5	42041736	60489656	237	22787	89	2	1	20		6	5	1410	N	G	1.915478e-09
MGA	23269	genome.wustl.edu	37	chr15	42041908	42041908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggtgatcatttggatgaaGaatgccttccagaagaaggt	12	10	14	5	0	1	5	1	2	0	3	2	6	2	6	2	4	1	0	2	4	4	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:42041908G>C	ENST00000570161.1	+	16	6103	c.6103G>C	c.(6103-6105)Gaa>Caa	p.E2035Q	MGA_ENST00000545763.1_Missense_Mutation_p.E1826Q|MGA_ENST00000219905.7_Missense_Mutation_p.E2035Q|MGA_ENST00000389936.4_Missense_Mutation_p.E1996Q|MGA_ENST00000566586.1_Missense_Mutation_p.E1826Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTGGATGAAGAATGCCTTCC	0.403																																																	0													146	141	143					15																	42041908		1894	4123	6017	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6103G>C	15.37:g.42041908G>C	ENSP00000457035:p.Glu2035Gln		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E2035Q	ENST00000570161.1	37	c.6103	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529003	0.44969	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84873	-1.91;-1.9;-1.91	5.01	5.01	0.66863	.	0.456120	0.19000	N	0.125376	T	0.82190	0.4983	L	0.27053	0.805	0.19775	N	0.999951	P;P;D;D	0.63880	0.596;0.718;0.993;0.993	B;B;P;P	0.52957	0.188;0.346;0.714;0.714	T	0.74131	-0.3764	10	0.42905	T	0.14	.	11.0768	0.48036	0.0875:0.0:0.9125:0.0	.	651;1826;2035;1996	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	Q	2035;1996;1826	ENSP00000219905:E2035Q;ENSP00000374586:E1996Q;ENSP00000442467:E1826Q	ENSP00000219905:E2035Q	E	+	1	0	MGA	39829200	0.709000	0.27886	0.997000	0.53966	0.812000	0.45895	1.500000	0.35682	2.602000	0.87976	0.563000	0.77884	GAA	MGA	-	NULL	ENSG00000174197		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	22	0	G	NM_001164273.1		42041908	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.857	C	C	42041908	G	C	42041908	3	2	85	1	0	0	0	0	1	0	0	0	9578	943	33	5	6165	5	MGA	15	42041908	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	172	42041908	60489484	238	22788			1	20		6	5	1410	N	G	1.915478e-09
MGA	23269	genome.wustl.edu	37	chr15	42042323	42042323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagaaagacagggaaaGatggagaaaacatctgaagg	18	5	14	4	0	2	5	0	1	2	4	2	8	2	6	0	4	1	0	0	4	5	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:42042323G>T	ENST00000570161.1	+	16	6518	c.6518G>T	c.(6517-6519)aGa>aTa	p.R2173I	MGA_ENST00000545763.1_Missense_Mutation_p.R1964I|MGA_ENST00000219905.7_Missense_Mutation_p.R2173I|MGA_ENST00000389936.4_Missense_Mutation_p.R2134I|MGA_ENST00000566586.1_Missense_Mutation_p.R1964I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACAGGGAAAGATGGAGAAAA	0.433																																																	0													70	70	70					15																	42042323		1894	4128	6022	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6518G>T	15.37:g.42042323G>T	ENSP00000457035:p.Arg2173Ile		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.R2173I	ENST00000570161.1	37	c.6518	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456078	0.26161	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84944	-1.92;-1.89;-1.91	4.5	2.58	0.30949	.	0.840050	0.10385	N	0.681061	D	0.84817	0.5556	N	0.24115	0.695	0.09310	N	1	P;P;D;D	0.67145	0.838;0.729;0.996;0.996	B;B;D;D	0.71656	0.202;0.282;0.974;0.974	T	0.72243	-0.4350	10	0.87932	D	0	.	6.2629	0.20910	0.3099:0.0:0.6901:0.0	.	789;1964;2173;2134	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	I	2173;2134;1964	ENSP00000219905:R2173I;ENSP00000374586:R2134I;ENSP00000442467:R1964I	ENSP00000219905:R2173I	R	+	2	0	MGA	39829615	0.005000	0.15991	0.991000	0.47740	0.288000	0.27193	0.351000	0.20096	1.131000	0.42111	0.467000	0.42956	AGA	MGA	-	NULL	ENSG00000174197		0.433	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	22	0	G	NM_001164273.1		42042323	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.028	T	T	42042323	G	T	42042323	3	4	85	1	0	0	0	0	1	0	0	0	9578	942	33	3	6580	3	MGA	15	42042323	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	415	42042323	60489069	239	22789			1	20		6	5	1410	N	G	1.915478e-09
NARG2	79664	genome.wustl.edu	37	chr15	60748894	60748894	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaactttaatcccatctCtactctgaatgggaagaatc	12	14	5	10	0	3	2	0	1	3	1	6	3	4	3	1	1	2	0	1	1	6	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:60748894C>G	ENST00000261520.4	-	6	862	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	NARG2_ENST00000561114.1_Missense_Mutation_p.E210Q|NARG2_ENST00000439632.1_Missense_Mutation_p.E73Q	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AATCCCATCTCTACTCTGAAT	0.353																																																	0													72	78	76					15																	60748894		2202	4300	6502	SO:0001583	missense	0																														ENST00000261520.4:c.628G>C	15.37:g.60748894C>G	ENSP00000261520:p.Glu210Gln			Missense_Mutation	SNP	pfam_NARG2_C	p.E210Q	ENST00000261520.4	37	c.628	CCDS10176.1	15	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634940	0.47049	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.44	5.44	0.79542	.	0.294748	0.36101	N	0.002786	T	0.27241	0.0668	N	0.22421	0.69	0.27440	N	0.953735	P;P	0.46142	0.873;0.615	B;B	0.43225	0.412;0.1	T	0.12167	-1.0558	9	0.27785	T	0.31	-15.4616	12.8624	0.57922	0.0:0.8364:0.1636:0.0	.	73;210	G3V0H6;Q659A1	.;NARG2_HUMAN	Q	210;73	.	ENSP00000261520:E210Q	E	-	1	0	NARG2	58536186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.202000	0.51067	2.720000	0.93068	0.561000	0.74099	GAG	NARG2	-	NULL	ENSG00000128915		0.353	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	HGNC	protein_coding	OTTHUMT00000256136.1	-	0	87	0	C			60748894	-1	tier1	-	no_errors	ENST00000261520	ensembl	human	known	74_37	missense	39.18	59	38	SNP	1.000	G	G	60748894	C	G	60748894	3	3	85	1	0	0	0	0	1	0	0	0	10207	922	32	5	2364	5	NARG2	15	60748894	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	18706571	60748894	41782498	240	22790											
MAN2C1	4123	genome.wustl.edu	37	chr15	75651724	75651724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggctgcagtgaggtggggGgaggaacaggagcatagccc	9	4	21	7	0	0	1	0	1	0	0	0	4	0	4	1	8	4	3	1	8	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:75651724G>A	ENST00000267978.5	-	17	2037	c.1991C>T	c.(1990-1992)cCc>cTc	p.P664L	MAN2C1_ENST00000563622.1_Missense_Mutation_p.P565L|MAN2C1_ENST00000569482.1_Missense_Mutation_p.P664L|MAN2C1_ENST00000565683.1_Silent_p.S668S	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	664					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGAGGTGGGGGGAGGAACAGG	0.632																																																	0													27	30	29					15																	75651724		2197	4294	6491	SO:0001583	missense	0			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1991C>T	15.37:g.75651724G>A	ENSP00000267978:p.Pro664Leu		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P664L	ENST00000267978.5	37	c.1991	CCDS32298.1	15	.	.	.	.	.	.	.	.	.	.	G	5.560	0.288162	0.10513	.	.	ENSG00000140400	ENST00000267978	T	0.13420	2.59	4.38	2.25	0.28309	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.782162	0.11204	N	0.588526	T	0.08313	0.0207	N	0.16266	0.395	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.14023	0.01;0.001	T	0.35699	-0.9778	10	0.27082	T	0.32	-1.1983	8.3652	0.32382	0.0:0.1696:0.6558:0.1746	.	664;664	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	L	664	ENSP00000267978:P664L	ENSP00000267978:P664L	P	-	2	0	MAN2C1	73438777	0.670000	0.27512	0.061000	0.19648	0.586000	0.36452	0.753000	0.26376	0.906000	0.36621	0.561000	0.74099	CCC	MAN2C1	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000140400		0.632	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2C1	HGNC	protein_coding	OTTHUMT00000419965.1	-	0	51	0	G			75651724	-1	tier1	-	no_errors	ENST00000267978	ensembl	human	known	74_37	missense	17.81	60	13	SNP	0.014	A	A	75651724	G	A	75651724	3	1	85	1	0	0	0	0	1	0	0	0	9256	1232	43	3	1171	3	MAN2C1	15	75651724	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	14902830	75651724	26879668	241	22791											
CSPG4	1464	genome.wustl.edu	37	chr15	75981846	75981846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccgtcaccgacacctcCagcaccagctggtcggaggt	8	5	12	16	4	1	0	1	0	0	0	3	3	2	1	5	3	3	2	5	3	0	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:75981846C>T	ENST00000308508.5	-	3	1652	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	520	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGACACCTCCAGCACCAGCT	0.627																																																	0													35	34	34					15																	75981846		2188	4265	6453	SO:0001819	synonymous_variant	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1560G>A	15.37:g.75981846C>T			D3DW77|Q92675	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.L520	ENST00000308508.5	37	c.1560	CCDS10284.1	15																																																																																			CSPG4	-	NULL	ENSG00000173546		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	193	0	C	NM_001897		75981846	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	silent	40.55	129	88	SNP	0.991	T	T	75981846	C	T	75981846	2	4	85	1	0	0	0	0	0	0	0	1	3969	581	21	3		3	CSPG4	15	75981846	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	330122	75981846	26549546	242	22792											
ISL2	64843	genome.wustl.edu	37	chr15	76629258	76629258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcattatccttttctgGgtgctatgggtgatcattcc	5	20	8	8	0	3	1	2	1	1	0	5	1	5	1	2	2	1	1	2	2	2	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:76629258G>T	ENST00000290759.4	+	1	194	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	12					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G12C(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TCCTTTTCTGGGTGCTATGGG	0.468																																					GBM(97;953 1391 16164 31496 36951)												1	Substitution - Missense(1)	lung(1)											289	308	302					15																	76629258		2197	4294	6491	SO:0001583	missense	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.34G>T	15.37:g.76629258G>T	ENSP00000290759:p.Gly12Cys		B3KM37	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.G12C	ENST00000290759.4	37	c.34	CCDS10290.1	15	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657629	0.67586	.	.	ENSG00000159556	ENST00000290759	D	0.85339	-1.97	5.12	5.12	0.69794	.	0.164731	0.53938	D	0.000057	D	0.83529	0.5274	L	0.42245	1.32	0.53688	D	0.999971	P	0.52170	0.951	P	0.45971	0.499	D	0.86028	0.1511	10	0.72032	D	0.01	.	16.0455	0.80717	0.0:0.0:1.0:0.0	.	12	Q96A47	ISL2_HUMAN	C	12	ENSP00000290759:G12C	ENSP00000290759:G12C	G	+	1	0	ISL2	74416313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.355000	0.90083	2.366000	0.80165	0.561000	0.74099	GGT	ISL2	-	NULL	ENSG00000159556		0.468	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1		0	29	0	G			76629258	1			no_errors	ENST00000290759	ensembl	human	known	74_37	missense	7.41	24	2	SNP	1.000	T	T	76629258	G	T	76629258	3	4	85	1	0	0	0	0	1	0	0	0	7884	1232	43	3	36	3	ISL2	15	76629258	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	647412	76629258	25902134	243	22793											
MRPS11	64963	genome.wustl.edu	37	chr15	89018446	89018446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcacaggcatcgcagcacaGacagcaggcatagccgcagc	12	2	13	14	2	0	1	0	0	0	1	1	1	0	1	1	3	4	7	1	3	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:89018446G>A	ENST00000325844.4	+	4	652	c.387G>A	c.(385-387)caG>caA	p.Q129Q	MRPS11_ENST00000353598.6_Silent_p.Q96Q|MRPS11_ENST00000557974.1_3'UTR	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	129					DNA damage response, detection of DNA damage (GO:0042769)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCGCAGCACAGACAGCAGGCA	0.532																																																	0													137	114	122					15																	89018446		2201	4299	6500	SO:0001819	synonymous_variant	0			AB051349	CCDS10342.1, CCDS10343.1	15q25	2012-09-13			ENSG00000181991	ENSG00000181991		"Mitochondrial ribosomal proteins / small subunits"	14050	protein-coding gene	gene with protein product	"cervical cancer proto-oncogene 2"	611977				11402041	Standard	NM_022839		Approved	FLJ23406, HCC-2, FLJ22512	uc002bml.3	P82912	OTTHUMG00000148678	ENST00000325844.4:c.387G>A	15.37:g.89018446G>A			B2RD52|Q969D7|Q96GI3|Q9BYC3	Missense_Mutation	SNP	NULL	p.D109N	ENST00000325844.4	37	c.325	CCDS10342.1	15																																																																																			MRPS11	-	NULL	ENSG00000181991		0.532	MRPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS11	HGNC	protein_coding	OTTHUMT00000309067.2	-	0	63	0	G	NM_022839		89018446	1	tier1	-	no_errors	ENST00000560708	ensembl	human	known	74_37	missense	34.12	56	29	SNP	1.000	A	A	89018446	G	A	89018446	2	1	85	1	0	0	0	0	0	0	0	1	9860	933	33	3		3	MRPS11	15	89018446	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	12389188	89018446	13512946	244	22794											
POLG	5428	genome.wustl.edu	37	chr15	89862174	89862174	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatacctcttcctggacAgccgagggctccagggctcg	8	7	12	14	2	1	1	0	0	1	1	4	3	3	2	4	3	2	2	4	3	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr15:89862174A>T	ENST00000268124.5	-	20	3594	c.3261T>A	c.(3259-3261)gcT>gcA	p.A1087A	POLG_ENST00000442287.2_Silent_p.A1087A	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1087					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CTTCCTGGACAGCCGAGGGCT	0.572								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0													58	55	56					15																	89862174		2200	4299	6499	SO:0001819	synonymous_variant	0			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"DNA polymerases"	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.3261T>A	15.37:g.89862174A>T			Q8NFM2|Q92515	Silent	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.A1087	ENST00000268124.5	37	c.3261	CCDS10350.1	15																																																																																			POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom	ENSG00000140521		0.572	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	-	0	23	0	A	NM_002693		89862174	-1	tier1	-	no_errors	ENST00000268124	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.002	T	T	89862174	A	T	89862174	2	4	85	1	0	0	0	0	0	0	0	1	12239	175	7	5		5	POLG	15	89862174	Silent	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	843728	89862174	12669218	245	22795											
SRRM2	23524	genome.wustl.edu	37	chr16	2812373	2812373	+	Missense_Mutation	SNP	C	C	T																															accagcccggaggggcaggtCtcggtctagaacacctgcta																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:2812373C>T	ENST00000301740.8	+	11	2393	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	615	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGGGCAGGTCTCGGTCTAGA	0.612																																																	0													62	63	63					16																	2812373		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1844C>T	16.37:g.2812373C>T	ENSP00000301740:p.Ser615Phe		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S615F	ENST00000301740.8	37	c.1844	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606861	0.46527	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.32988	1.43	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000011	T	0.45034	0.1322	L	0.27053	0.805	0.45015	D	0.99803	D	0.71674	0.998	D	0.80764	0.994	T	0.37709	-0.9694	10	0.72032	D	0.01	-12.2892	17.7728	0.88497	0.0:1.0:0.0:0.0	.	615	Q9UQ35	SRRM2_HUMAN	F	615;615;580	ENSP00000301740:S615F	ENSP00000301740:S615F	S	+	2	0	SRRM2	2752374	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	3.626000	0.54245	2.801000	0.96364	0.655000	0.94253	TCT	SRRM2	-	NULL	ENSG00000167978		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	55	0	C			2812373	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	T	T	2812373	C	T	2812373	3	4	85	1	0	0	0	0	1	0	0	0	15216	913	32	3	1882	3	SRRM2	16	2812373	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09		2812373	87542380	246	22796	90	2	2	21		4	3	505	N	C	1.375137e-05
SRRM2	23524	genome.wustl.edu	37	chr16	2812379	2812379	+	Missense_Mutation	SNP	C	C	G																															ccggaggggcaggtctcggtCtagaacacctgctaggcgca																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:2812379C>G	ENST00000301740.8	+	11	2399	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	617	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCTCGGTCTAGAACACCT	0.597																																																	0													67	68	68					16																	2812379		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1850C>G	16.37:g.2812379C>G	ENSP00000301740:p.Ser617Cys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S617C	ENST00000301740.8	37	c.1850	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680152	0.47886	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.28069	1.63	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000014	T	0.43077	0.1231	N	0.19112	0.55	0.41174	D	0.986186	D	0.76494	0.999	D	0.80764	0.994	T	0.41770	-0.9490	10	0.87932	D	0	-12.4907	17.7728	0.88497	0.0:1.0:0.0:0.0	.	617	Q9UQ35	SRRM2_HUMAN	C	617;617;582	ENSP00000301740:S617C	ENSP00000301740:S617C	S	+	2	0	SRRM2	2752380	0.998000	0.40836	0.998000	0.56505	0.966000	0.64601	4.907000	0.63300	2.801000	0.96364	0.655000	0.94253	TCT	SRRM2	-	NULL	ENSG00000167978		0.597	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	54	0	C			2812379	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	17.78	37	8	SNP	1.000	G	G	2812379	C	G	2812379	3	3	85	1	0	0	0	0	1	0	0	0	15216	913	32	5	1888	5	SRRM2	16	2812379	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	6	2812379	87542374	247	22797	90	2	2	21		4	3	505	N	C	1.375137e-05
SRRM2	23524	genome.wustl.edu	37	chr16	2812817	2812817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcggagcaggtctctctCttcaccacggtccaaagcaa	11	7	10	13	2	3	0	1	0	2	0	6	1	4	1	2	4	2	2	2	4	3	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:2812817C>G	ENST00000301740.8	+	11	2837	c.2288C>G	c.(2287-2289)tCt>tGt	p.S763C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	763	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGTCTCTCTCTTCACCACGG	0.493																																																	0													128	132	131					16																	2812817		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2288C>G	16.37:g.2812817C>G	ENSP00000301740:p.Ser763Cys		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S763C	ENST00000301740.8	37	c.2288	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	5.519	0.280700	0.10458	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.38401	1.14	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000011	T	0.43765	0.1262	L	0.27053	0.805	0.40077	D	0.976085	D	0.76494	0.999	D	0.69142	0.962	T	0.40289	-0.9571	10	0.59425	D	0.04	-11.9833	10.5656	0.45171	0.0:0.9125:0.0:0.0875	.	763	Q9UQ35	SRRM2_HUMAN	C	763;763;15;728	ENSP00000301740:S763C	ENSP00000301740:S763C	S	+	2	0	SRRM2	2752818	1.000000	0.71417	0.994000	0.49952	0.529000	0.34654	3.010000	0.49559	2.638000	0.89438	0.655000	0.94253	TCT	SRRM2	-	NULL	ENSG00000167978		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1		0	32	0	C			2812817	1			no_errors	ENST00000301740	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G	G	2812817	C	G	2812817	3	3	85	1	0	0	0	0	1	0	0	0	15216	913	32	5	2326	5	SRRM2	16	2812817	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	438	2812817	87541936	248	22798			2	21		4	3	505	N	C	1.375137e-05
SRRM2	23524	genome.wustl.edu	37	chr16	2812877	2812877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcgcagcctttcagggtcttCcccatgccctaaacaaaagt	10	9	8	14	1	2	0	1	0	1	0	3	0	3	0	4	1	3	1	4	1	4	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:2812877C>T	ENST00000301740.8	+	11	2897	c.2348C>T	c.(2347-2349)tCc>tTc	p.S783F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	783	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCAGGGTCTTCCCCATGCCCT	0.532																																																	0													187	188	188					16																	2812877		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2348C>T	16.37:g.2812877C>T	ENSP00000301740:p.Ser783Phe		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S783F	ENST00000301740.8	37	c.2348	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	9.810	1.182895	0.21870	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.34072	1.38	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000011	T	0.47116	0.1428	L	0.27053	0.805	0.39765	D	0.972087	D	0.65815	0.995	D	0.63597	0.916	T	0.49153	-0.8969	10	0.72032	D	0.01	-12.2259	17.3941	0.87440	0.0:1.0:0.0:0.0	.	783	Q9UQ35	SRRM2_HUMAN	F	783;783;35;748	ENSP00000301740:S783F	ENSP00000301740:S783F	S	+	2	0	SRRM2	2752878	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	4.492000	0.60334	2.709000	0.92574	0.655000	0.94253	TCC	SRRM2	-	NULL	ENSG00000167978		0.532	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0	33	0	C			2812877	1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	T	T	2812877	C	T	2812877	3	4	85	1	0	0	0	0	1	0	0	0	15216	855	30	3	2386	3	SRRM2	16	2812877	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	60	2812877	87541876	249	22799			2	21		4	3	505	N	C	1.375137e-05
CORO7	79585	genome.wustl.edu	37	chr16	4408369	4408369	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtccccaccctcaccCggactcggggcagccggaag	7	3	12	19	3	1	0	1	0	0	0	3	2	2	2	6	5	1	1	6	5	1	0	rs569079730		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:4408369C>T	ENST00000251166.4	-	24	2601	c.2456G>A	c.(2455-2457)cGg>cAg	p.R819Q	CORO7_ENST00000537233.2_Splice_Site_p.R801Q|CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000576217.1_5'Flank|CORO7_ENST00000539968.1_Splice_Site_p.R599Q|CORO7-PAM16_ENST00000572467.1_Splice_Site_p.R819Q|CORO7_ENST00000574025.1_Splice_Site_p.R734Q	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	819					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CACCCTCACCCGGACTCGGGG	0.667													C|||	1	0.000199681	0	0	5008	,	,		17717	0.001		0	False		,,,				2504	0																0													21	23	22					16																	4408369		2191	4289	6480	SO:0001630	splice_region_variant	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"Coronins", "WD repeat domain containing"	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2457+1G>A	16.37:g.4408369C>T			B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R819Q	ENST00000251166.4	37	c.2456	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720032	0.48728	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.28666	1.6;1.6	5.56	3.26	0.37387	Domain of unknown function DUF1900 (1);	0.358239	0.31697	N	0.007215	T	0.43100	0.1232	M	0.66560	2.04	0.80722	D	1	P;B;D;D;P	0.63880	0.896;0.426;0.993;0.958;0.538	B;B;P;B;B	0.58210	0.245;0.094;0.835;0.37;0.128	T	0.34004	-0.9846	10	0.52906	T	0.07	-16.8173	7.6216	0.28189	0.0:0.7335:0.0:0.2665	.	734;801;599;819;800	P57737-2;B4DFD6;B3KUH7;P57737;B4DKU9	.;.;.;CORO7_HUMAN;.	Q	819;734;599	ENSP00000251166:R819Q;ENSP00000446221:R599Q	ENSP00000251166:R819Q	R	-	2	0	CORO7	4348370	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	1.656000	0.37355	1.352000	0.45808	0.484000	0.47621	CGG	CORO7-PAM16	-	pfam_DUF1900	ENSG00000103426		0.667	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	HGNC	protein_coding	OTTHUMT00000251628.2	-	0	50	0	C	NM_024535	Missense_Mutation	4408369	-1	tier1	-	no_errors	ENST00000572467	ensembl	human	known	74_37	missense	32.79	41	20	SNP	1.000	T	T	4408369	C	T	4408369	5	4	85	1	0	0	0	0	0	0	1	0	3766	666	23	1	341	1	CORO7	16	4408369	Splice_Site	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1595492	4408369	85946384	250	22800											
ERN2	10595	genome.wustl.edu	37	chr16	23718123	23718123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggaccctctgtggtcaGtgtcatctgggtctcccctg	4	11	14	12	0	5	0	2	0	3	0	6	2	5	2	3	4	0	0	3	4	0	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:23718123G>T	ENST00000457008.2	-	6	477	c.439C>A	c.(439-441)Ctg>Atg	p.L147M	ERN2_ENST00000256797.4_Missense_Mutation_p.L195M					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCTGTGGTCAGTGTCATCTGG	0.602																																																	0													50	48	49					16																	23718123		2197	4300	6497	SO:0001583	missense	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.439C>A	16.37:g.23718123G>T	ENSP00000413812:p.Leu147Met			Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.L195M	ENST00000457008.2	37	c.583		16	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587986	0.46110	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.59638	0.25;0.25	5.73	3.78	0.43462	Quinonprotein alcohol dehydrogenase-like (2);	0.000000	0.64402	D	0.000001	T	0.72827	0.3509	M	0.73598	2.24	0.50039	D	0.999847	D;D;P	0.89917	0.999;1.0;0.947	D;D;P	0.87578	0.971;0.998;0.74	T	0.73177	-0.4065	10	0.56958	D	0.05	.	10.5799	0.45248	0.1575:0.0:0.8425:0.0	.	147;147;147	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	M	195;147	ENSP00000256797:L195M;ENSP00000413812:L147M	ENSP00000256797:L195M	L	-	1	2	ERN2	23625624	0.975000	0.34042	0.958000	0.39756	0.862000	0.49288	1.700000	0.37815	0.781000	0.33589	-0.252000	0.11476	CTG	ERN2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat	ENSG00000134398		0.602	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1		0	42	0	G			23718123	-1			no_errors	ENST00000256797	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.959	T	T	23718123	G	T	23718123	3	4	85	1	0	0	0	0	1	0	0	0	5254	1020	36	3	2409	3	ERN2	16	23718123	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	19309754	23718123	66636630	251	22801											
PPP4C	5531	genome.wustl.edu	37	chr16	30092589	30092589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctccagagagatcttGgtagaggagagcaacgtgca	11	8	13	9	1	2	4	0	0	2	4	3	6	2	4	2	2	3	3	2	2	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:30092589G>T	ENST00000279387.7	+	3	276	c.108G>T	c.(106-108)ttG>ttT	p.L36F	PPP4C_ENST00000561610.1_Missense_Mutation_p.L36F	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	36					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GAGAGATCTTGGTAGAGGAGA	0.582																																																	0													131	122	125					16																	30092589		2197	4300	6497	SO:0001583	missense	0				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.108G>T	16.37:g.30092589G>T	ENSP00000279387:p.Leu36Phe		P33172	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L36F	ENST00000279387.7	37	c.108	CCDS10669.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440303	0.83993	.	.	ENSG00000149923	ENST00000279387	T	0.68025	-0.3	5.82	4.77	0.60923	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (1);	0.000000	0.64402	D	0.000001	T	0.80939	0.4720	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.83221	-0.0068	10	0.72032	D	0.01	.	13.4772	0.61316	0.0823:0.0:0.9177:0.0	.	36	P60510	PP4C_HUMAN	F	36	ENSP00000279387:L36F	ENSP00000279387:L36F	L	+	3	2	PPP4C	30000090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.608000	0.61141	1.305000	0.44909	0.655000	0.94253	TTG	PPP4C	-	smart_Ser/Thr-sp_prot-phosphatase	ENSG00000149923		0.582	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4C	HGNC	protein_coding	OTTHUMT00000255155.2		0	33	0	G	NM_002720		30092589	1			no_errors	ENST00000279387	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	30092589	G	T	30092589	3	4	85	1	0	0	0	0	1	0	0	0	12444	1339	47	3	114	3	PPP4C	16	30092589	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	6374466	30092589	60262164	252	22802											
RNF40	9810	genome.wustl.edu	37	chr16	30775652	30775652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcgtgtggtagaggccTcagaccgcctacagcgccgg	6	8	14	13	4	2	2	1	0	1	2	3	2	2	2	4	3	2	1	4	3	2	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:30775652T>C	ENST00000324685.6	+	5	1030	c.595T>C	c.(595-597)Tca>Cca	p.S199P	C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.S199P|C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.S199P	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	199					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGTAGAGGCCTCAGACCGCCT	0.617																																																	0													81	67	72					16																	30775652		2197	4300	6497	SO:0001583	missense	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.595T>C	16.37:g.30775652T>C	ENSP00000325677:p.Ser199Pro		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S199P	ENST00000324685.6	37	c.595	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	T	29.7	5.024413	0.93518	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.31247	1.5;1.5	5.54	5.54	0.83059	.	0.129068	0.53938	D	0.000055	T	0.39306	0.1073	L	0.44542	1.39	0.80722	D	1	D;B;B	0.60160	0.987;0.047;0.047	P;B;B	0.52343	0.696;0.017;0.017	T	0.21449	-1.0245	10	0.72032	D	0.01	-8.5405	14.7997	0.69906	0.0:0.0:0.0:1.0	.	199;199;199	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	P	199;199;48	ENSP00000325677:S199P;ENSP00000350563:S199P	ENSP00000325677:S199P	S	+	1	0	RNF40	30683153	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.093000	0.64517	2.326000	0.78906	0.533000	0.62120	TCA	RNF40	-	NULL	ENSG00000103549		0.617	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	-	0	54	0	T	NM_014771		30775652	1	tier1	-	no_errors	ENST00000324685	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	C	C	30775652	T	C	30775652	3	2	85	1	0	0	0	0	1	0	0	0	13538	1551	54	4	609	4	RNF40	16	30775652	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	683063	30775652	59579101	253	22803											
SETD1A	9739	genome.wustl.edu	37	chr16	30982809	30982811	+	In_Frame_Del	DEL	TCC	TCC	-																															gcagctcttccagctcctcaTcctcctcctcctcctcgtcc																								rs531337171|rs569719496	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:30982809_30982811delTCC	ENST00000262519.8	+	13	3813_3815	c.3127_3129delTCC	c.(3127-3129)tccdel	p.S1058del		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1058	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGctcctcatcctcctcctcct	0.547																																																	0																																										SO:0001651	inframe_deletion	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3127_3129delTCC	16.37:g.30982818_30982820delTCC	ENSP00000262519:p.Ser1058del		A6NP62|Q6PIF3|Q8TAJ6	In_Frame_Del	DEL	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.S1046in_frame_del	ENST00000262519.8	37	c.3127_3129	CCDS32435.1	16																																																																																			SETD1A	-	NULL	ENSG00000099381		0.547	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2		0	42	0	TCC	NM_014712		30982811	1			no_errors	ENST00000262519	ensembl	human	known	74_37	in_frame_del	7.55	49	4	DEL	0.734:0.781:0.676	0	-	30982811	TCC	-	30982809	7	5	85	1	0	1	0	1	0	0	0	0	14175	1435	50	0	3173	0	SETD1A	16	30982809	In_Frame_Del	DEL	TCC	TCGA-L5-A8NK-01A-21D-A37C-09	207157	30982809	59371944	254	22804											
VKORC1	79001	genome.wustl.edu	37	chr16	31104658	31104658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatagctgtagtgtgtagaaGatgcaaccgaatatgctgtt	13	12	11	5	1	0	2	0	0	0	2	0	3	0	2	1	0	4	6	1	0	8	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:31104658G>A	ENST00000394975.2	-	2	485	c.258C>T	c.(256-258)atC>atT	p.I86I	VKORC1_ENST00000354895.4_Intron|VKORC1_ENST00000319788.7_Silent_p.I86I|VKORC1_ENST00000498155.1_Missense_Mutation_p.L119F|VKORC1_ENST00000394971.3_Missense_Mutation_p.L118F|RP11-196G11.1_ENST00000529564.1_Silent_p.I86I|VKORC1_ENST00000300851.6_Missense_Mutation_p.L107F	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1	86					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	GTGTGTAGAAGATGCAACCGA	0.622																																																	0													159	119	132					16																	31104658		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"vitamin K dependent clotting factors deficiency 2"	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.258C>T	16.37:g.31104658G>A			A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	NULL	p.L119F	ENST00000394975.2	37	c.355	CCDS10703.1	16	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384604	0.42308	.	.	ENSG00000167397	ENST00000300851;ENST00000394971;ENST00000498155	D	0.97994	-4.65	6.17	4.11	0.48088	.	.	.	.	.	D	0.95752	0.8618	.	.	.	0.24460	N	0.994441	.	.	.	.	.	.	D	0.90997	0.4839	6	0.45353	T	0.12	-36.8594	5.3335	0.15945	0.2101:0.1768:0.6131:0.0	.	.	.	.	F	107;118;119	ENSP00000300851:L107F	ENSP00000300851:L107F	L	-	1	0	VKORC1	31012159	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.961000	0.40432	0.760000	0.33108	0.655000	0.94253	CTT	VKORC1	-	NULL	ENSG00000167397		0.622	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VKORC1	HGNC	protein_coding	OTTHUMT00000108582.1	-	0	71	0	G	NM_024006		31104658	-1	tier1	-	no_errors	ENST00000498155	ensembl	human	putative	74_37	missense	10.10	89	10	SNP	1.000	A	A	31104658	G	A	31104658	2	1	85	1	0	0	0	0	0	0	0	1	17221	932	33	3		3	VKORC1	16	31104658	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	121849	31104658	59250095	255	22805											
FUS	2521	genome.wustl.edu	37	chr16	31201647	31201647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtggtggtggtggccGaggaggatttcccagtggag	6	9	20	6	1	0	0	0	0	0	0	1	4	1	3	2	8	0	1	2	8	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:31201647G>T	ENST00000254108.7	+	12	1325	c.1220G>T	c.(1219-1221)cGa>cTa	p.R407L	FUS_ENST00000568685.1_Missense_Mutation_p.R408L|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Missense_Mutation_p.R406L	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	407	Arg/Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ggtggtggccgaggaggattt	0.542			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"																																			Dom	yes		16	16p11.2	2521	"fusion, derived from t(12;16) malignant liposarcoma"		"M, L"	0													153	110	125					16																	31201647		2197	4300	6497	SO:0001583	missense	0			AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"RNA binding motif (RRM) containing"	4010	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein P2", "translocated in liposarcoma"	137070	"fusion, derived from t(12;16) malignant liposarcoma", "amyotrophic lateral sclerosis 6", "fusion (involved in t(12;16) in malignant liposarcoma)", "fused in sarcoma"	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.1220G>T	16.37:g.31201647G>T	ENSP00000254108:p.Arg407Leu		Q9H4A8	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.R407L	ENST00000254108.7	37	c.1220	CCDS10707.1	16	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577546	0.28180	.	.	ENSG00000089280	ENST00000254108;ENST00000380244;ENST00000394533	D	0.97114	-4.25	5.31	2.3	0.28687	.	0.221723	0.36932	N	0.002332	D	0.91845	0.7419	N	0.19112	0.55	0.28498	N	0.914156	B;P;P;P;P;P	0.37573	0.008;0.465;0.465;0.6;0.465;0.465	B;B;B;B;B;B	0.34991	0.005;0.095;0.095;0.193;0.095;0.095	D	0.86819	0.2003	10	0.66056	D	0.02	-0.7982	9.8355	0.40966	0.2285:0.0:0.7715:0.0	.	406;407;407;406;181;407	A8K4H1;Q8TBR3;Q6IBQ5;P35637-2;Q59H57;P35637	.;.;.;.;.;FUS_HUMAN	L	407;134;336	ENSP00000254108:R407L	ENSP00000254108:R407L	R	+	2	0	FUS	31109148	1.000000	0.71417	0.829000	0.32907	0.287000	0.27160	6.080000	0.71299	0.244000	0.21351	-0.150000	0.13652	CGA	FUS	-	NULL	ENSG00000089280		0.542	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FUS	HGNC	protein_coding	OTTHUMT00000255526.2	-	0	41	0	G	NM_004960		31201647	1	tier1	-	no_errors	ENST00000254108	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.519	T	T	31201647	G	T	31201647	3	4	85	1	0	0	0	0	1	0	0	0	6124	1058	37	2	1266	2	FUS	16	31201647	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	96989	31201647	59153106	256	22806											
N4BP1	9683	genome.wustl.edu	37	chr16	48596162	48596162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattgttgaatgtgactcCtagccatgaccacagcctca	12	10	7	12	0	1	3	1	3	0	0	2	3	2	3	4	0	2	1	4	0	3	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:48596162C>T	ENST00000262384.3	-	2	628	c.392G>A	c.(391-393)aGg>aAg	p.R131K	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	131					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AATGTGACTCCTAGCCATGAC	0.413																																																	0													71	72	72					16																	48596162		1925	4136	6061	SO:0001583	missense	0			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.392G>A	16.37:g.48596162C>T	ENSP00000262384:p.Arg131Lys		A7MD49|Q2YDX1	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.R131K	ENST00000262384.3	37	c.392	CCDS45479.1	16	.	.	.	.	.	.	.	.	.	.	C	11.31	1.602465	0.28534	.	.	ENSG00000102921	ENST00000262384	T	0.39406	1.08	5.45	3.49	0.39957	.	0.119054	0.56097	D	0.000021	T	0.26268	0.0641	L	0.29908	0.895	0.09310	N	0.999999	P	0.35844	0.524	B	0.31946	0.138	T	0.12218	-1.0556	10	0.38643	T	0.18	-13.3797	7.8622	0.29516	0.0:0.6944:0.0:0.3056	.	131	O75113	N4BP1_HUMAN	K	131	ENSP00000262384:R131K	ENSP00000262384:R131K	R	-	2	0	N4BP1	47153663	0.215000	0.23574	0.103000	0.21229	0.990000	0.78478	2.973000	0.49264	1.437000	0.47472	0.655000	0.94253	AGG	N4BP1	-	NULL	ENSG00000102921		0.413	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	HGNC	protein_coding	OTTHUMT00000429920.1	-	0	37	0	C	NM_014664		48596162	-1	tier1	-	no_errors	ENST00000262384	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.337	T	T	48596162	C	T	48596162	3	4	85	1	0	0	0	0	1	0	0	0	10147	681	24	3	2322	3	N4BP1	16	48596162	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	17394515	48596162	41758591	257	22807											
COG4	25839	genome.wustl.edu	37	chr16	70524289	70524289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacttccacgttgttcaGagtcacctgggagatgagga	10	9	13	9	1	2	4	2	1	0	3	3	6	3	5	2	2	0	3	2	2	0	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr16:70524289G>T	ENST00000323786.5	-	13	1675	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	548					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.L552L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				ACGTTGTTCAGAGTCACCTGG	0.527																																																	1	Substitution - coding silent(1)	large_intestine(1)											167	133	145					16																	70524289		2198	4300	6498	SO:0001583	missense	0			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1654C>A	16.37:g.70524289G>T	ENSP00000315775:p.Leu552Met		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.L552M	ENST00000323786.5	37	c.1654	CCDS10892.2	16	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865602	0.71949	.	.	ENSG00000103051	ENST00000323786;ENST00000539961	T	0.59224	0.28	6.17	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.73666	0.3616	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.76038	-0.3105	10	0.72032	D	0.01	-10.42	7.8475	0.29435	0.1163:0.0:0.7134:0.1703	.	458;548	Q8N8L9;Q9H9E3	.;COG4_HUMAN	M	552;210	ENSP00000315775:L552M	ENSP00000315775:L552M	L	-	1	2	COG4	69081790	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	3.745000	0.55119	1.607000	0.50170	-0.181000	0.13052	CTG	COG4	-	NULL	ENSG00000103051		0.527	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3		0	41	0	G			70524289	-1			no_errors	ENST00000323786	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.990	T	T	70524289	G	T	70524289	3	4	85	1	0	0	0	0	1	0	0	0	3667	933	33	3	743	3	COG4	16	70524289	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	21928127	70524289	19830464	258	22808											
SMG6	23293	genome.wustl.edu	37	chr17	2203562	2203562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcttcctcctccaccCgactggcggattctttgcta	5	13	8	15	2	2	0	0	0	2	0	5	3	5	2	4	3	1	1	4	3	1	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:2203562C>T	ENST00000263073.6	-	2	535	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	SMG6_ENST00000544865.1_Missense_Mutation_p.R131Q	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	162	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.R162L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCCTCCACCCGACTGGCGGA	0.463																																					Melanoma(59;28 1088 11621 25887 46638 50814)												1	Substitution - Missense(1)	lung(1)											160	173	169					17																	2203562		2203	4300	6503	SO:0001583	missense	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.485G>A	17.37:g.2203562C>T	ENSP00000263073:p.Arg162Gln		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.R162Q	ENST00000263073.6	37	c.485	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256028	0.22965	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.08984	3.03;3.03	5.48	2.14	0.27477	.	1.158280	0.06033	N	0.653493	T	0.08088	0.0202	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40251	-0.9573	10	0.54805	T	0.06	-0.2178	7.9834	0.30196	0.0:0.6528:0.0:0.3472	.	162	Q86US8	EST1A_HUMAN	Q	162;131	ENSP00000263073:R162Q;ENSP00000443920:R131Q	ENSP00000263073:R162Q	R	-	2	0	SMG6	2150312	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	0.338000	0.19858	0.194000	0.20326	0.655000	0.94253	CGG	SMG6	-	NULL	ENSG00000070366		0.463	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	-	0	59	0	C			2203562	-1	tier1	-	no_errors	ENST00000263073	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.002	T	T	2203562	C	T	2203562	3	4	85	1	0	0	0	0	1	0	0	0	14842	652	23	1	3846	1	SMG6	17	2203562	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09		2203562	78991648	259	22809											
KIAA0664	23277	genome.wustl.edu	37	chr17	2597225	2597225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccatgatgtagtggaggCgggcgaggaggcgcaggcag	8	4	20	9	4	0	1	0	1	0	0	0	4	0	3	1	6	0	3	1	6	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:2597225C>T	ENST00000570628.2	-	19	3188	c.3083G>A	c.(3082-3084)cGc>cAc	p.R1028H	CLUH_ENST00000435359.1_Missense_Mutation_p.R1028H|CLUH_ENST00000538975.1_Missense_Mutation_p.R1028H			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	1028					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GTAGTGGAGGCGGGCGAGGAG	0.632																																																	0													25	34	31					17																	2597225		2097	4211	6308	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"KIAA0664"	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.3083G>A	17.37:g.2597225C>T	ENSP00000458986:p.Arg1028His		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	superfamily_GSKIP_dom	p.R1028H	ENST00000570628.2	37	c.3083	CCDS45572.1	17	.	.	.	.	.	.	.	.	.	.	c	33	5.204791	0.95033	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.63744	-0.06;-0.06	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.85335	0.1092	10	0.72032	D	0.01	.	18.2477	0.89992	0.0:1.0:0.0:0.0	.	1028;1029	O75153;C9J6D7	K0664_HUMAN;.	H	1028;1029;1028	ENSP00000388872:R1028H;ENSP00000439628:R1028H	ENSP00000320468:R1029H	R	-	2	0	KIAA0664	2543975	1.000000	0.71417	0.983000	0.44433	0.788000	0.44548	7.485000	0.81204	2.565000	0.86533	0.556000	0.70494	CGC	CLUH	-	NULL	ENSG00000132361		0.632	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	HGNC	protein_coding	OTTHUMT00000437807.2	-	0	105	0	C	NM_015229		2597225	-1	tier1	-	no_errors	ENST00000435359	ensembl	human	known	74_37	missense	9.17	99	10	SNP	1.000	T	T	2597225	C	T	2597225	3	4	85	1	0	0	0	0	1	0	0	0	8216	768	27	1	878	1	KIAA0664	17	2597225	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	393663	2597225	78597985	260	22810											
TP53	7157	genome.wustl.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	31	0	G	NM_000546		7577121	-1	tier1	rs121913343	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.830	A	A	7577121	G	A	7577121	3	1	85	1	0	0	0	0	1	0	0	0	16429	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4979896	7577121	73618089	261	22811											
TP53	7157	genome.wustl.edu	37	chr17	7578260	7578260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgcaaatttccttccaCtcggataagatgctgaggag	12	9	9	11	2	0	2	0	1	0	1	3	4	2	4	2	2	1	2	2	2	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:7578260C>A	ENST00000269305.4	-	6	778	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L	TP53_ENST00000413465.2_Missense_Mutation_p.V197L|TP53_ENST00000455263.2_Missense_Mutation_p.V197L|TP53_ENST00000359597.4_Missense_Mutation_p.V197L|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V197L|TP53_ENST00000445888.2_Missense_Mutation_p.V197L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	197	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> E (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V197M(10)|p.0?(8)|p.V197L(6)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.V104L(1)|p.V65L(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTTCCTTCCACTCGGATAAGA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	42	Substitution - Missense(18)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Complex - deletion inframe(5)|Complex - frameshift(1)	breast(6)|biliary_tract(5)|large_intestine(5)|liver(5)|skin(4)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|stomach(1)|oesophagus(1)|ovary(1)	GRCh37	CM070297	TP53	M							108	96	100					17																	7578260		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.589G>T	17.37:g.7578260C>A	ENSP00000269305:p.Val197Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V197L	ENST00000269305.4	37	c.589	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900571	0.52227	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.059878	0.64402	D	0.000004	D	0.99739	0.9897	M	0.77820	2.39	0.51767	D	0.999939	D;P;P;D;B;D;D	0.89917	0.997;0.484;0.927;0.999;0.367;0.995;1.0	D;P;P;D;P;D;D	0.87578	0.972;0.735;0.856;0.975;0.72;0.985;0.998	D	0.97374	0.9978	10	0.54805	T	0.06	-16.054	12.3714	0.55256	0.0:0.9175:0.0:0.0824	.	158;197;197;104;197;197;197	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	197;197;197;197;197;197;186;104;65;104;65	ENSP00000410739:V197L;ENSP00000352610:V197L;ENSP00000269305:V197L;ENSP00000398846:V197L;ENSP00000391127:V197L;ENSP00000391478:V197L;ENSP00000425104:V65L;ENSP00000423862:V104L	ENSP00000269305:V197L	V	-	1	0	TP53	7518985	0.994000	0.37717	0.999000	0.59377	0.021000	0.10359	3.252000	0.51461	1.420000	0.47138	0.655000	0.94253	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	59	0	C	NM_000546		7578260	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	A	A	7578260	C	A	7578260	3	1	85	1	0	0	0	0	1	0	0	0	16429	565	20	3	705	3	TP53	17	7578260	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1139	7578260	73616950	262	22812											
PER1	5187	genome.wustl.edu	37	chr17	8046067	8046067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgcggagcctgtgccGgagcgcgagtcctcttgcag	5	7	17	12	4	1	0	0	0	1	0	2	4	2	2	3	3	5	2	3	3	0	1	rs148594937	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:8046067G>A	ENST00000317276.4	-	20	3396	c.3159C>T	c.(3157-3159)tcC>tcT	p.S1053S	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.S1030S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1053	Ser-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCCTGTGCCGGAGCGCGAGT	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								G		0,4406		0,0,2203	46	52	50		3159	-9.3	0.5	17	dbSNP_134	50	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	PER1	NM_002616.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		1053/1291	8046067	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"period (Drosophila) homolog 1", "period homolog 1 (Drosophila)"	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3159C>T	17.37:g.8046067G>A			B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.S1053	ENST00000317276.4	37	c.3159	CCDS11131.1	17																																																																																			PER1	-	pfam_Period_circadian-like_C	ENSG00000179094		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	-	0	62	0	G			8046067	-1	tier1	rs148594937	no_errors	ENST00000317276	ensembl	human	known	74_37	silent	26.09	51	18	SNP	0.147	A	A	8046067	G	A	8046067	2	1	85	1	0	0	0	0	0	0	0	1	11768	1103	39	1		1	PER1	17	8046067	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	467807	8046067	73149143	263	22813											
NDEL1	81565	genome.wustl.edu	37	chr17	8350156	8350156	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcagactcgggccattaagGagcagttgcataagtatgtg	11	10	13	7	1	1	1	1	0	0	1	2	2	1	2	1	2	2	4	1	2	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:8350156G>T	ENST00000334527.7	+	4	522	c.325G>T	c.(325-327)Gag>Tag	p.E109*	NDEL1_ENST00000380025.4_Nonsense_Mutation_p.E109*|NDEL1_ENST00000402554.3_Nonsense_Mutation_p.E109*|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Nonsense_Mutation_p.E109*	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	109	Interaction with KATNB1. {ECO:0000250}.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)			large_intestine(6)|lung(4)|skin(3)	13						GGCCATTAAGGAGCAGTTGCA	0.453																																																	0													108	99	102					17																	8350156		2203	4300	6503	SO:0001587	stop_gained	0			AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"nudE nuclear distribution gene E homolog (A. nidulans)-like 1", "nudE nuclear distribution E homolog (A. nidulans)-like 1"			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.325G>T	17.37:g.8350156G>T	ENSP00000333982:p.Glu109*		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Nonsense_Mutation	SNP	pfam_NUDE_C	p.E109*	ENST00000334527.7	37	c.325	CCDS11143.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.566040	0.96540	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	5.01	5.01	0.66863	.	0.152557	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-5.8871	18.5074	0.90902	0.0:0.0:1.0:0.0	.	.	.	.	X	109;109;164;109	.	ENSP00000299734:E109X	E	+	1	0	NDEL1	8290881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.618000	0.88619	0.561000	0.74099	GAG	NDEL1	-	NULL	ENSG00000166579		0.453	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDEL1	HGNC	protein_coding	OTTHUMT00000226999.2	-	0	50	0	G	NM_030808		8350156	1	tier1	-	no_errors	ENST00000299734	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	8350156	G	T	8350156	4	4	85	1	0	0	0	0	0	1	0	0	10283	1175	41	3	335	3	NDEL1	17	8350156	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	304089	8350156	72845054	264	22814											
MYH3	4621	genome.wustl.edu	37	chr17	10551879	10551879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactcagactcacaaaacGggaggagttgtcattcctca	14	8	8	11	1	4	1	4	0	0	1	5	3	5	3	1	2	2	1	1	2	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:10551879G>T	ENST00000583535.1	-	8	817	c.730C>A	c.(730-732)Cgt>Agt	p.R244S	MYH3_ENST00000226209.7_Missense_Mutation_p.R244S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	244	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCACAAAACGGGAGGAGTTG	0.483																																																	0													127	122	124					17																	10551879		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.730C>A	17.37:g.10551879G>T	ENSP00000464317:p.Arg244Ser		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R244S	ENST00000583535.1	37	c.730	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	18.88	3.716913	0.68844	.	.	ENSG00000109063	ENST00000226209	D	0.84589	-1.87	4.94	4.94	0.65067	Myosin head, motor domain (3);	.	.	.	.	D	0.96907	0.8990	H	0.99985	5.24	0.43141	D	0.994897	D	0.67145	0.996	D	0.72625	0.978	D	0.99636	1.0987	9	0.87932	D	0	.	18.3353	0.90286	0.0:0.0:1.0:0.0	.	244	P11055	MYH3_HUMAN	S	244	ENSP00000226209:R244S	ENSP00000226209:R244S	R	-	1	0	MYH3	10492604	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	3.728000	0.54991	2.563000	0.86464	0.462000	0.41574	CGT	MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000109063		0.483	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	76	0	G	NM_002470		10551879	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	10551879	G	T	10551879	3	4	85	1	0	0	0	0	1	0	0	0	10074	1116	39	2	5228	2	MYH3	17	10551879	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2201723	10551879	70643331	265	22815											
FLII	2314	genome.wustl.edu	37	chr17	18150102	18150102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccttctcctccttgtcttCcttcttttcctcctcctcgt	0	19	4	18	1	3	0	0	0	3	0	10	0	8	0	7	1	0	0	7	1	0	6			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:18150102C>G	ENST00000327031.4	-	23	3082	c.2857G>C	c.(2857-2859)Gaa>Caa	p.E953Q	FLII_ENST00000379450.4_Missense_Mutation_p.E867Q|FLII_ENST00000579294.1_Missense_Mutation_p.E942Q|FLII_ENST00000545457.2_Missense_Mutation_p.E898Q|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	953	Glu-rich.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					tccttgtcttccttcttttcc	0.602																																																	0													126	111	116					17																	18150102		2203	4300	6503	SO:0001583	missense	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"flightless I (Drosophila) homolog"			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2857G>C	17.37:g.18150102C>G	ENSP00000324573:p.Glu953Gln		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.E953Q	ENST00000327031.4	37	c.2857	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	5.532	0.283069	0.10458	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.40756	1.02;1.13	5.56	-1.08	0.09936	.	1.490010	0.04339	N	0.353809	T	0.29749	0.0743	N	0.24115	0.695	0.19575	N	0.999964	B;B;B;B;B	0.22604	0.012;0.012;0.009;0.072;0.012	B;B;B;B;B	0.24155	0.006;0.006;0.023;0.051;0.006	T	0.25328	-1.0135	10	0.23302	T	0.38	-0.0274	9.7132	0.40258	0.0:0.3743:0.0:0.6257	.	867;867;832;953;922	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	Q	953;832;867	ENSP00000324573:E953Q;ENSP00000368763:E867Q	ENSP00000324573:E953Q	E	-	1	0	FLII	18090827	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.379000	0.07437	0.055000	0.16094	-0.218000	0.12543	GAA	FLII	-	smart_Villin/Gelsolin	ENSG00000177731		0.602	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	-	0	23	0	C	NM_002018		18150102	-1	tier1	-	no_errors	ENST00000327031	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.062	G	G	18150102	C	G	18150102	3	3	85	1	0	0	0	0	1	0	0	0	5947	864	30	5	984	5	FLII	17	18150102	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	7598223	18150102	63045108	266	22816											
FAM83G	644815	genome.wustl.edu	37	chr17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccattgtcctcgggcccctGagaggggcccgtgccccgag	4	6	14	17	3	0	1	0	1	0	1	2	3	1	1	7	3	1	0	7	3	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701																																																	0																																										SO:0001587	stop_gained	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"protein associated with SMAD1"	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.262C>T	17.37:g.18907093G>A	ENSP00000373647:p.Gln88*		Q3KQZ4|Q6ZW60	Nonsense_Mutation	SNP	pfam_DUF1669	p.Q88*	ENST00000388995.6	37	c.262	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.087375	0.97271	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	.	.	.	4.79	1.22	0.21188	.	7.777730	0.00589	U	0.000352	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-3.6454	8.642	0.33983	0.0993:0.2826:0.6181:0.0	.	.	.	.	X	88	.	ENSP00000343279:Q88X	Q	-	1	0	FAM83G	18847818	0.000000	0.05858	0.004000	0.12327	0.305000	0.27757	0.222000	0.17699	0.985000	0.38656	0.491000	0.48974	CAG	FAM83G	-	pfam_DUF1669	ENSG00000188522		0.701	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	-	0	54	0	G			18907093	-1	tier1	-	no_errors	ENST00000345041	ensembl	human	known	74_37	nonsense	21.92	57	16	SNP	0.000	A	A	18907093	G	A	18907093	4	1	85	1	0	0	0	0	0	1	0	0	5661	1299	45	3	2229	3	FAM83G	17	18907093	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	756991	18907093	62288117	267	22817											
CDK12	51755	genome.wustl.edu	37	chr17	37680952	37680952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccactggcaggattgccatGagttgtggagtaagaaacgg	11	8	14	8	1	0	2	0	1	0	1	0	4	0	4	2	4	2	3	2	4	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:37680952G>A	ENST00000447079.4	+	12	3154	c.3121G>A	c.(3121-3123)Gag>Aag	p.E1041K	CDK12_ENST00000430627.2_Missense_Mutation_p.E1041K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1041					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGATTGCCATGAGTTGTGGAG	0.478			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													83	84	84					17																	37680952		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"Cyclin-dependent kinases"	24224	protein-coding gene	gene with protein product	"CDC2 related protein kinase 7"	615514	"Cdc2-related kinase, arginine/serine-rich"	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3121G>A	17.37:g.37680952G>A	ENSP00000398880:p.Glu1041Lys		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E1041K	ENST00000447079.4	37	c.3121	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663605	0.88251	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.75154	-0.9;-0.91	4.98	4.98	0.66077	Protein kinase-like domain (1);	0.000000	0.44285	D	0.000461	D	0.84745	0.5540	M	0.62723	1.935	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.80764	0.985;0.985;0.994	D	0.86237	0.1641	10	0.87932	D	0	-14.3036	18.0521	0.89353	0.0:0.0:1.0:0.0	.	1040;1041;1041	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	K	1041	ENSP00000407720:E1041K;ENSP00000398880:E1041K	ENSP00000407720:E1041K	E	+	1	0	CDK12	34934478	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.657000	0.98554	2.591000	0.87537	0.563000	0.77884	GAG	CDK12	-	superfamily_Kinase-like_dom	ENSG00000167258		0.478	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0	70	0	G	NM_016507		37680952	1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	14.55	47	8	SNP	1.000	A	A	37680952	G	A	37680952	3	1	85	1	0	0	0	0	1	0	0	0	3135	1291	45	3	3167	3	CDK12	17	37680952	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	18773859	37680952	43514258	268	22818											
STAT5B	6777	genome.wustl.edu	37	chr17	40359718	40359718	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagtctctggtggtaaaAggcatcagattccaaaacat	15	9	10	7	0	2	2	1	0	1	2	4	3	3	2	1	3	1	2	1	3	5	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:40359718A>G	ENST00000293328.3	-	16	2103	c.1935T>C	c.(1933-1935)ccT>ccC	p.P645P		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	645	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P645P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGTGGTAAAAGGCATCAGAT	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											103	102	103					17																	40359718		2203	4300	6503	SO:0001819	synonymous_variant	0			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"SH2 domain containing"	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1935T>C	17.37:g.40359718A>G			Q8WWS8	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.P645	ENST00000293328.3	37	c.1935	CCDS11423.1	17																																																																																			STAT5B	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000173757		0.393	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5B	HGNC	protein_coding	OTTHUMT00000319797.1	-	0	30	0	A	NM_012448		40359718	-1	tier1	-	no_errors	ENST00000293328	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.944	G	G	40359718	A	G	40359718	2	3	85	1	0	0	0	0	0	0	0	1	15316	59	3	4		4	STAT5B	17	40359718	Silent	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	2678766	40359718	40835492	269	22819											
COASY	80347	genome.wustl.edu	37	chr17	40717518	40717518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgattgatgccgctGtgttgcttgaagccggctgg	4	14	16	7	2	0	3	0	3	0	0	0	3	0	3	2	2	3	4	2	2	1	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:40717518G>A	ENST00000393818.2	+	7	1873	c.1417G>A	c.(1417-1419)Gtg>Atg	p.V473M	MLX_ENST00000346833.4_5'Flank|COASY_ENST00000420359.1_Missense_Mutation_p.V473M|COASY_ENST00000590958.1_Missense_Mutation_p.V502M|MLX_ENST00000435881.2_5'Flank|COASY_ENST00000421097.2_Missense_Mutation_p.V473M|COASY_ENST00000449624.1_Missense_Mutation_p.V178M|MLX_ENST00000246912.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	473	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGATGCCGCTGTGTTGCTTGA	0.607																																																	0													149	121	131					17																	40717518		2203	4300	6503	SO:0001583	missense	0			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"Coenzyme A synthase"			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1417G>A	17.37:g.40717518G>A	ENSP00000377406:p.Val473Met		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	pfam_Depp_CoAkinase,pfam_Cyt_trans-like,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	p.V502M	ENST00000393818.2	37	c.1504	CCDS11429.1	17	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454172	0.43634	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;T;T	0.42900	0.96;0.96;0.96	5.6	-4.05	0.03998	.	0.445385	0.26286	N	0.025255	T	0.50051	0.1593	M	0.90595	3.13	0.32510	N	0.537694	B;P	0.37083	0.251;0.581	B;P	0.48089	0.155;0.566	T	0.54125	-0.8340	10	0.34782	T	0.22	-7.9485	4.6822	0.12741	0.2948:0.1088:0.4771:0.1192	.	502;473	Q13057-2;Q13057	.;COASY_HUMAN	M	502;178;473;473	ENSP00000407740:V178M;ENSP00000413338:V473M;ENSP00000377406:V473M	ENSP00000377406:V473M	V	+	1	0	COASY	37971044	0.059000	0.20769	0.826000	0.32828	0.748000	0.42578	0.315000	0.19451	-0.419000	0.07439	-0.459000	0.05422	GTG	COASY	-	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	ENSG00000068120		0.607	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	-	0	30	0	G	NM_025233		40717518	1	tier1	-	no_errors	ENST00000590958	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.403	A	A	40717518	G	A	40717518	3	1	85	1	0	0	0	0	1	0	0	0	3659	1377	48	3	1534	3	COASY	17	40717518	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	357800	40717518	40477692	270	22820											
C17orf57	124989	genome.wustl.edu	37	chr17	45447865	45447865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgagctacaggaacagtatGaggatgtttgtaagtgagct	13	11	13	4	0	0	3	0	3	0	0	0	5	0	5	0	2	4	5	0	2	4	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:45447865G>C	ENST00000331493.2	+	11	1279	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E194Q	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	290						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GGAACAGTATGAGGATGTTTG	0.279																																																	0													152	159	157					17																	45447865		2203	4299	6502	SO:0001583	missense	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.868G>C	17.37:g.45447865G>C	ENSP00000332111:p.Glu290Gln		G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.E290Q	ENST00000331493.2	37	c.868	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763134	0.69763	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.71222	0.78;-0.55	3.86	3.86	0.44501	.	0.350546	0.20483	N	0.091447	T	0.78000	0.4215	L	0.46157	1.445	0.25221	N	0.9899	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.67995	-0.5526	10	0.87932	D	0	-4.3342	11.4616	0.50213	0.0:0.0:1.0:0.0	.	242;290;194	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	Q	290;194;242	ENSP00000332111:E290Q;ENSP00000430048:E194Q	ENSP00000332111:E290Q	E	+	1	0	C17orf57	42802864	1.000000	0.71417	0.989000	0.46669	0.345000	0.29048	2.297000	0.43593	2.122000	0.65172	0.591000	0.81541	GAG	EFCAB13	-	NULL	ENSG00000178852		0.279	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	-	0	58	0	G	NM_152347		45447865	1	tier1	-	no_errors	ENST00000331493	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	C	C	45447865	G	C	45447865	3	2	85	1	0	0	0	0	1	0	0	0	1871	1291	45	5	898	5	C17orf57	17	45447865	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4730347	45447865	35747345	271	22821											
SNX11	29916	genome.wustl.edu	37	chr17	46198856	46198856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctggtcagttagaaacaGttttggaaaagtgagctctg	12	11	11	7	0	2	2	1	1	1	1	2	3	2	3	1	2	2	3	1	2	4	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:46198856G>T	ENST00000393405.2	+	8	1153	c.799G>T	c.(799-801)Gtt>Ttt	p.V267F	SNX11_ENST00000580219.1_Missense_Mutation_p.V259F|SNX11_ENST00000452859.2_Missense_Mutation_p.V123F|SNX11_ENST00000359238.2_Missense_Mutation_p.V267F|SNX11_ENST00000439357.2_Missense_Mutation_p.V206F|SNX11_ENST00000582104.1_Missense_Mutation_p.V259F	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	267					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GTTAGAAACAGTTTTGGAAAA	0.537																																																	0													109	103	105					17																	46198856		2203	4300	6503	SO:0001583	missense	0			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"Sorting nexins"	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.799G>T	17.37:g.46198856G>T	ENSP00000377059:p.Val267Phe		B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.V267F	ENST00000393405.2	37	c.799	CCDS11526.1	17	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318437	0.40996	.	.	ENSG00000002919	ENST00000452859;ENST00000393405;ENST00000439357;ENST00000359238	T;T	0.69306	-0.39;-0.39	5.64	2.51	0.30379	.	0.945841	0.08834	N	0.886807	T	0.52964	0.1767	L	0.40543	1.245	0.09310	N	1	P;B;B	0.37015	0.578;0.278;0.278	B;B;B	0.28305	0.088;0.088;0.088	T	0.42932	-0.9422	10	0.72032	D	0.01	-13.7362	7.7085	0.28663	0.0861:0.3475:0.5664:0.0	.	206;259;267	B4DKH7;B4DPY5;Q9Y5W9	.;.;SNX11_HUMAN	F	123;267;206;267	ENSP00000377059:V267F;ENSP00000352175:V267F	ENSP00000352175:V267F	V	+	1	0	SNX11	43553855	0.012000	0.17670	0.003000	0.11579	0.788000	0.44548	1.876000	0.39588	0.444000	0.26612	0.650000	0.86243	GTT	SNX11	-	NULL	ENSG00000002919		0.537	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	-	0	58	0	G			46198856	1	tier1	-	no_errors	ENST00000359238	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.006	T	T	46198856	G	T	46198856	3	4	85	1	0	0	0	0	1	0	0	0	14927	1029	36	3	821	3	SNX11	17	46198856	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	750991	46198856	34996354	272	22822											
SPAG9	9043	genome.wustl.edu	37	chr17	49077040	49077041	+	Frame_Shift_Ins	INS	-	-	T																															caactgccaaatgcttgaccINStttttttttcctgcatggct																								rs371303534		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:49077040_49077041insT	ENST00000262013.7	-	14	1853_1854	c.1645_1646insA	c.(1645-1647)aggfs	p.R549fs	SPAG9_ENST00000357122.4_Frame_Shift_Ins_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Ins_p.R392fs|SPAG9_ENST00000505279.1_Frame_Shift_Ins_p.R535fs	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	549					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R535fs*28(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AATGCTTGACCTTTTTTTTTCC	0.322																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"sperm surface protein", "JNK/SAPK-associated protein", "JNK interacting protein", "sperm specific protein", "c-Jun NH2-terminal kinase-associated leucine zipper protein", "Max-binding protein", "JNK-associated leucine-zipper protein", "HLC-4 protein", "lung cancer oncogene 4", "proliferation-inducing gene 6", "cancer/testis antigen 89"	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1646dupA	17.37:g.49077049_49077049dupT	ENSP00000262013:p.Arg549fs		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Frame_Shift_Ins	INS	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R549fs	ENST00000262013.7	37	c.1646_1645	CCDS45740.1	17																																																																																			SPAG9	-	NULL	ENSG00000008294		0.322	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2		0	63	0	0	NM_003971		49077041	-1			no_errors	ENST00000262013	ensembl	human	known	74_37	frame_shift_ins	7.41	75	6	INS	1.000:1.000	T	T	49077041	-	T	49077040	7	5	85	1	0	1	1	0	0	0	0	0	15032	681	24	0	2387	0	SPAG9	17	49077040	Frame_Shift_Ins	INS	-	TCGA-L5-A8NK-01A-21D-A37C-09	2878184	49077040	32118170	273	22823											
PPM1D	8493	genome.wustl.edu	37	chr17	58740434	58740434	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtagcaatgccttctcaGagaattttttagaggtttca	10	16	8	7	1	2	2	2	0	1	2	4	3	2	2	1	1	2	3	1	1	4	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:58740434G>T	ENST00000305921.3	+	6	1571	c.1339G>T	c.(1339-1341)Gag>Tag	p.E447*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	447					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.E447K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TGCCTTCTCAGAGAATTTTTT	0.433											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					1	Substitution - Missense(1)	skin(1)											100	100	100					17																	58740434		2203	4300	6503	SO:0001587	stop_gained	0			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9277	protein-coding gene	gene with protein product	"wild-type p53-induced phosphatase 1", "protein phosphatase 2C, delta isoform"	605100	"protein phosphatase 1D magnesium-dependent, delta isoform"			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1339G>T	17.37:g.58740434G>T	ENSP00000306682:p.Glu447*	1033	Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.E447*	ENST00000305921.3	37	c.1339	CCDS11625.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.352756	0.98231	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	6.08	0.98989	.	0.219106	0.48286	D	0.000199	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-23.029	9.6637	0.39972	0.0698:0.0:0.7885:0.1417	.	.	.	.	X	447	.	ENSP00000306682:E447X	E	+	1	0	PPM1D	56095216	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.741000	0.62095	2.894000	0.99253	0.591000	0.81541	GAG	PPM1D	-	NULL	ENSG00000170836		0.433	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1		0	59	0	G	NM_003620		58740434	1			no_errors	ENST00000305921	ensembl	human	known	74_37	nonsense	5.00	57	3	SNP	1.000	T	T	58740434	G	T	58740434	4	4	85	1	0	0	0	0	0	1	0	0	12379	943	33	3	1361	3	PPM1D	17	58740434	Nonsense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	9663394	58740434	22454776	274	22824											
BCAS3	54828	genome.wustl.edu	37	chr17	59067470	59067470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcaccacgagtagtgaatCgcatgagccgtttccagaaa	12	9	10	10	3	1	3	1	2	0	1	3	4	2	3	3	0	1	3	3	0	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:59067470C>T	ENST00000390652.5	+	15	1391	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	BCAS3_ENST00000589222.1_Missense_Mutation_p.R454C|BCAS3_ENST00000588462.1_Missense_Mutation_p.R454C|BCAS3_ENST00000407086.3_Missense_Mutation_p.R454C|BCAS3_ENST00000588874.1_Missense_Mutation_p.R225C|BCAS3_ENST00000408905.3_Missense_Mutation_p.R454C|BCAS3_ENST00000585744.1_Missense_Mutation_p.R225C	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3											NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTAGTGAATCGCATGAGCCG	0.507																																																	0													81	83	82					17																	59067470		1979	4161	6140	SO:0001583	missense	0			AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"WD repeat domain containing"	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.1360C>T	17.37:g.59067470C>T	ENSP00000375067:p.Arg454Cys			Missense_Mutation	SNP	pfam_BCAS3,pfam_WD40_repeat	p.R454C	ENST00000390652.5	37	c.1360	CCDS45749.1	17	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998366	0.93227	.	.	ENSG00000141376	ENST00000390652;ENST00000407086;ENST00000405070;ENST00000408905;ENST00000360207;ENST00000405217	T;T;T	0.35048	1.33;1.33;2.82	5.38	5.38	0.77491	.	0.053577	0.85682	D	0.000000	T	0.60130	0.2245	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.998	P;P;P;P;D;D;P	0.79108	0.683;0.855;0.855;0.891;0.992;0.982;0.799	T	0.61845	-0.6979	10	0.87932	D	0	.	19.4833	0.95018	0.0:1.0:0.0:0.0	.	245;454;454;259;454;454;454	B4E3M9;Q9H6U6-3;Q9H6U6-8;Q70WD9;Q9H6U6-7;Q9H6U6;Q9H6U6-2	.;.;.;.;.;BCAS3_HUMAN;.	C	454;454;454;454;246;259	ENSP00000375067:R454C;ENSP00000385323:R454C;ENSP00000386173:R454C	ENSP00000353336:R246C	R	+	1	0	BCAS3	56422252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.666000	0.90696	0.591000	0.81541	CGC	BCAS3	-	NULL	ENSG00000141376		0.507	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS3	HGNC	protein_coding	OTTHUMT00000449578.1		0	38	0	C	NM_017679		59067470	1			no_errors	ENST00000390652	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T	T	59067470	C	T	59067470	3	4	85	1	0	0	0	0	1	0	0	0	1353	884	31	1	1414	1	BCAS3	17	59067470	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	327036	59067470	22127740	275	22825											
METTL2A	339175	genome.wustl.edu	37	chr17	60526062	60526062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggattcagtgcaaatactGcaagccccttctgtccagca	10	11	8	12	0	2	0	1	0	1	0	3	1	3	1	3	1	5	3	3	1	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:60526062G>A	ENST00000311506.5	+	9	1145	c.1109G>A	c.(1108-1110)tGc>tAc	p.C370Y		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	370					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGCAAATACTGCAAGCCCCTT	0.498																																																	0													151	156	154					17																	60526062		2203	4300	6503	SO:0001583	missense	0			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.1109G>A	17.37:g.60526062G>A	ENSP00000309610:p.Cys370Tyr		A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase	p.C370Y	ENST00000311506.5	37	c.1109	CCDS45752.1	17	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169086	0.38315	.	.	ENSG00000087995	ENST00000311506	T	0.11063	2.81	4.48	4.48	0.54585	.	0.481200	0.23338	N	0.049267	T	0.07098	0.0180	N	0.14661	0.345	0.24440	N	0.994535	B	0.16396	0.017	B	0.11329	0.006	T	0.21621	-1.0240	10	0.72032	D	0.01	-3.8494	10.0673	0.42311	0.0:0.0:0.7991:0.2009	.	370	Q96IZ6	MTL2A_HUMAN	Y	370	ENSP00000309610:C370Y	ENSP00000309610:C370Y	C	+	2	0	METTL2A	57879794	1.000000	0.71417	0.995000	0.50966	0.933000	0.57130	3.478000	0.53158	2.051000	0.60960	0.505000	0.49811	TGC	METTL2A	-	pirsf_MeTrfase	ENSG00000087995		0.498	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	HGNC	protein_coding	OTTHUMT00000445130.1		0	51	0	G	NM_181725		60526062	1			no_errors	ENST00000311506	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.994	A	A	60526062	G	A	60526062	3	1	85	1	0	0	0	0	1	0	0	0	9537	1319	46	3	1143	3	METTL2A	17	60526062	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1458592	60526062	20669148	276	22826											
SCN4A	6329	genome.wustl.edu	37	chr17	62034633	62034633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactccccgcacaggatgcgGaagacgatgaggaaggagtg	12	4	15	10	3	0	2	0	1	0	1	1	7	1	6	2	4	1	1	2	4	2	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:62034633G>A	ENST00000435607.1	-	13	2341	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	SCN4A_ENST00000578147.1_Silent_p.F755F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	755					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACAGGATGCGGAAGACGATGA	0.577																																																	0													83	86	85					17																	62034633		2203	4300	6503	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.2265C>T	17.37:g.62034633G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.F755	ENST00000435607.1	37	c.2265	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom	ENSG00000007314		0.577	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0	60	0	G	NM_000334		62034633	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	18.64	48	11	SNP	1.000	A	A	62034633	G	A	62034633	2	1	85	1	0	0	0	0	0	0	0	1	13965	1165	41	3		3	SCN4A	17	62034633	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1508571	62034633	19160577	277	22827											
CCDC45	90799	genome.wustl.edu	37	chr17	62525459	62525459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccattcgctctctccatctCcagttaacaaacacaaacag	13	9	3	16	1	2	0	0	0	2	0	6	0	3	0	3	0	3	2	3	0	3	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:62525459C>G	ENST00000556440.2	+	12	1870	c.1360C>G	c.(1360-1362)Cca>Gca	p.P454A	CEP95_ENST00000553412.1_Missense_Mutation_p.P290A|CEP95_ENST00000577476.1_3'UTR|AC009994.2_ENST00000579926.1_RNA	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	454						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CTCTCCATCTCCAGTTAACAA	0.458																																																	0													70	70	70					17																	62525459		1923	4143	6066	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"coiled-coil domain containing 45"	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.1360C>G	17.37:g.62525459C>G	ENSP00000450461:p.Pro454Ala		B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.P454A	ENST00000556440.2	37	c.1360	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	C	9.504	1.103887	0.20632	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.33438	1.41;1.42	5.48	4.51	0.55191	.	0.133731	0.50627	D	0.000119	T	0.27967	0.0689	L	0.53249	1.67	0.35048	D	0.760356	P	0.40431	0.717	B	0.41271	0.352	T	0.31110	-0.9955	10	0.14656	T	0.56	-7.4676	9.633	0.39791	0.0:0.9022:0.0:0.0978	.	454	Q96GE4	CEP95_HUMAN	A	389;454;290	ENSP00000450461:P454A;ENSP00000450906:P290A	ENSP00000438458:P389A	P	+	1	0	CEP95	59955921	0.948000	0.32251	0.996000	0.52242	0.089000	0.18198	2.069000	0.41481	1.421000	0.47157	0.655000	0.94253	CCA	CEP95	-	NULL	ENSG00000258890		0.458	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	-	0	44	0	C	NM_138363		62525459	1	tier1	-	no_errors	ENST00000556440	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.998	G	G	62525459	C	G	62525459	3	3	85	1	0	0	0	0	1	0	0	0	2823	855	30	5	1406	5	CCDC45	17	62525459	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	490826	62525459	18669751	278	22828											
FAM104A	84923	genome.wustl.edu	37	chr17	71205859	71205861	+	In_Frame_Del	DEL	TGC	TGC	-																															ggccctgtccgggctattgaTgctgctgctgctgctgctgc																								rs141426163	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:71205859_71205861delTGC	ENST00000403627.3	-	3	428_430	c.368_370delGCA	c.(367-372)agcatc>atc	p.S123del	FAM104A_ENST00000405159.3_In_Frame_Del_p.S144del|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000583024.1_In_Frame_Del_p.A96del|FAM104A_ENST00000580032.1_In_Frame_Del_p.S33del|FAM104A_ENST00000581110.1_In_Frame_Del_p.A90del	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	123	Ser-rich.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGGCTATTGAtgctgctgctgct	0.596																																																	0																																										SO:0001651	inframe_deletion	0			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.368_370delGCA	17.37:g.71205868_71205870delTGC	ENSP00000384648:p.Ser123del		B4E339	In_Frame_Del	DEL	NULL	p.S144in_frame_del	ENST00000403627.3	37	c.433_431	CCDS11693.2	17																																																																																			FAM104A	-	NULL	ENSG00000133193		0.596	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM104A	HGNC	protein_coding	OTTHUMT00000318935.1		0	51	0	TGC	NM_032837		71205861	-1	tier1		no_errors	ENST00000405159	ensembl	human	known	74_37	in_frame_del	11.43	31	4	DEL	1.000:1.000:1.000	-	-	71205861	TGC	-	71205859	7	5	85	1	0	1	0	1	0	0	0	0	5404	1464	51	0	194	0	FAM104A	17	71205859	In_Frame_Del	DEL	TGC	TCGA-L5-A8NK-01A-21D-A37C-09	8680400	71205859	9989351	279	22829											
KIAA0195	9772	genome.wustl.edu	37	chr17	73491440	73491440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcatcagcttccagcctaCggacagcgacatccccagct	9	7	7	18	2	2	0	2	0	0	0	4	2	4	1	5	1	5	2	5	1	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:73491440C>A	ENST00000314256.7	+	21	3198	c.2804C>A	c.(2803-2805)aCg>aAg	p.T935K	KIAA0195_ENST00000375248.5_Missense_Mutation_p.T945K|KIAA0195_ENST00000579208.1_Missense_Mutation_p.T586K|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	935						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCCAGCCTACGGACAGCGAC	0.602																																																	0													72	69	70					17																	73491440		2203	4300	6503	SO:0001583	missense	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2804C>A	17.37:g.73491440C>A	ENSP00000313885:p.Thr935Lys		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.T935K	ENST00000314256.7	37	c.2804	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062898	0.55432	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.49720	0.77;0.77	5.96	5.96	0.96718	.	0.104547	0.64402	D	0.000004	T	0.69333	0.3099	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76071	0.921;0.987;0.97	T	0.67035	-0.5772	10	0.51188	T	0.08	-17.7902	20.4084	0.99013	0.0:1.0:0.0:0.0	.	945;945;935	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	K	935;945	ENSP00000313885:T935K;ENSP00000364397:T945K	ENSP00000313885:T935K	T	+	2	0	KIAA0195	71003035	1.000000	0.71417	0.717000	0.30585	0.987000	0.75469	5.686000	0.68211	2.833000	0.97629	0.650000	0.86243	ACG	KIAA0195	-	NULL	ENSG00000177728		0.602	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	-	0	43	0	C	NM_014738		73491440	1	tier1	-	no_errors	ENST00000314256	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.998	A	A	73491440	C	A	73491440	3	1	85	1	0	0	0	0	1	0	0	0	8187	536	19	2	2882	2	KIAA0195	17	73491440	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2285581	73491440	7703770	280	22830											
DNAH17	8632	genome.wustl.edu	37	chr17	76502823	76502823	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacggggtcattgccattGgagagaatgtccaggaggtc	9	9	14	9	1	1	1	1	0	0	1	4	4	3	3	3	5	1	0	3	5	1	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:76502823G>T	ENST00000585328.1	-	30	4897	c.4773C>A	c.(4771-4773)tcC>tcA	p.S1591S	DNAH17_ENST00000389840.5_Silent_p.S1590S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1590	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATTGCCATTGGAGAGAATGT	0.552																																																	0													58	62	61					17																	76502823		1911	4121	6032	SO:0001819	synonymous_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4773C>A	17.37:g.76502823G>T			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.S1590	ENST00000585328.1	37	c.4770		17																																																																																			DNAH17	-	pfam_Dynein_heavy_dom-2	ENSG00000187775		0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0	56	0	G	NM_173628		76502823	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T	T	76502823	G	T	76502823	2	4	85	1	0	0	0	0	0	0	0	1	4615	1335	47	3		3	DNAH17	17	76502823	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	3011383	76502823	4692387	281	22831											
CBX8	57332	genome.wustl.edu	37	chr17	77770322	77770322	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaccatcccttccatttcacGaggtattccatgcgtccctg	7	12	7	15	2	1	0	1	0	0	0	5	2	5	0	5	1	1	1	5	1	1	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:77770322G>C	ENST00000269385.4	-	2	204	c.87C>G	c.(85-87)ctC>ctG	p.L29L	CBX8_ENST00000485449.1_Intron	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	29	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCATTTCACGAGGTATTCCA	0.463																																																	0													154	134	141					17																	77770322		2203	4300	6503	SO:0001819	synonymous_variant	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"polycomb 3", "Pc class 3 homolog (Drosophila)"		"chromobox homolog 8 (Drosophila Pc class)"			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.87C>G	17.37:g.77770322G>C			Q96H39|Q9NR07	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L29	ENST00000269385.4	37	c.87	CCDS11765.1	17																																																																																			CBX8	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000141570		0.463	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	-	0	40	0	G	NM_020649		77770322	-1	tier1	-	no_errors	ENST00000269385	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	C	C	77770322	G	C	77770322	2	2	85	1	0	0	0	0	0	0	0	1	2731	1058	37	5		5	CBX8	17	77770322	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1267499	77770322	3424888	282	22832											
RNF213	57674	genome.wustl.edu	37	chr17	78262164	78262164	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcctcagcctctatggTgagtcatccgggagagatgg	8	8	16	9	1	3	2	2	1	1	1	4	4	4	3	3	5	1	0	3	5	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr17:78262164T>A	ENST00000582970.1	+	4	953		c.e4+2		RNF213_ENST00000319921.4_Splice_Site|RNF213_ENST00000456466.1_Splice_Site|RNF213_ENST00000508628.2_Splice_Site	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCCTCTATGGTGAGTCATCCG	0.662																																																	0													25	29	27					17																	78262164		2178	4240	6418	SO:0001630	splice_region_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.810+2T>A	17.37:g.78262164T>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Splice_Site	SNP	-	e3+2	ENST00000582970.1	37	c.810+2	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	T	9.684	1.150093	0.21371	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.19	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8425	0.29406	0.0:0.0:0.4234:0.5766	.	.	.	.	.	-1	.	.	.	+	.	.	RNF213	75876759	0.404000	0.25328	0.883000	0.34634	0.006000	0.05464	0.782000	0.26788	0.702000	0.31825	-0.316000	0.08728	.	RNF213	-	-	ENSG00000173821		0.662	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	27	0	T	NM_020914	Intron	78262164	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	splice_site	11.11	32	4	SNP	0.854	A	A	78262164	T	A	78262164	5	1	85	1	0	0	0	0	0	0	1	0	13522	1710	59	5	973	5	RNF213	17	78262164	Splice_Site	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	491842	78262164	2933046	283	22833											
GATA6	2627	genome.wustl.edu	37	chr18	19762733	19762733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaggtgcccagaccacttGctatgaaaaaagagggaatt	14	10	10	7	0	0	3	0	1	0	2	0	4	0	4	2	2	2	1	2	2	6	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr18:19762733G>T	ENST00000269216.3	+	5	1721	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S	GATA6_ENST00000581694.1_Missense_Mutation_p.A482S|RNU6-702P_ENST00000364982.1_RNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	482					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CAGACCACTTGCTATGAAAAA	0.328																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)												0													50	52	51					18																	19762733		2203	4299	6502	SO:0001583	missense	0			U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"GATA zinc finger domain containing"	4174	protein-coding gene	gene with protein product		601656	"GATA-binding protein 6"			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1444G>T	18.37:g.19762733G>T	ENSP00000269216:p.Ala482Ser		B0YJ17|P78327	Missense_Mutation	SNP	pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	p.A482S	ENST00000269216.3	37	c.1444	CCDS11872.1	18	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467233	0.84533	.	.	ENSG00000141448	ENST00000269216	D	0.99582	-6.22	5.97	5.97	0.96955	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.053759	0.64402	D	0.000001	D	0.98899	0.9627	L	0.58428	1.81	0.80722	D	1	B	0.25105	0.118	B	0.29440	0.102	D	0.98968	1.0800	10	0.30854	T	0.27	-2.6479	20.4251	0.99070	0.0:0.0:1.0:0.0	.	482	Q92908	GATA6_HUMAN	S	482	ENSP00000269216:A482S	ENSP00000269216:A482S	A	+	1	0	GATA6	18016731	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.476000	0.97823	2.829000	0.97493	0.650000	0.86243	GCT	GATA6	-	smart_Znf_GATA,pfscan_Znf_GATA	ENSG00000141448		0.328	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA6	HGNC	protein_coding	OTTHUMT00000254696.1	-	0	85	0	G	NM_005257		19762733	1	tier1	-	no_errors	ENST00000269216	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T	T	19762733	G	T	19762733	3	4	85	1	0	0	0	0	1	0	0	0	6283	1319	46	3	1458	3	GATA6	18	19762733	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		19762733	58314515	284	22834											
KIAA1632	57724	genome.wustl.edu	37	chr18	43496415	43496415	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcacctggatcatgctGttgagaagcttcacgttgtc	7	12	10	12	1	3	1	3	1	0	1	4	3	3	2	2	1	2	4	2	1	1	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr18:43496415G>A	ENST00000282041.5	-	18	3406	c.3372C>T	c.(3370-3372)aaC>aaT	p.N1124N	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1124					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGATCATGCTGTTGAGAAGCT	0.557																																																	0													86	91	89					18																	43496415		2091	4218	6309	SO:0001819	synonymous_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.3372C>T	18.37:g.43496415G>A			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.N1124	ENST00000282041.5	37	c.3372	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.557	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1		0	39	0	G	NM_020964		43496415	-1			no_errors	ENST00000282041	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	A	A	43496415	G	A	43496415	2	1	85	1	0	0	0	0	0	0	0	1	8276	1368	48	3		3	KIAA1632	18	43496415	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	23733682	43496415	34580833	285	22835											
TCEB3B	51224	genome.wustl.edu	37	chr18	44561247	44561247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgttctgcgtgctgtcCgtctgtgctcagggctgtga	3	13	16	9	2	3	1	1	1	2	0	4	2	4	1	1	2	3	4	1	2	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr18:44561247C>T	ENST00000332567.4	-	1	741	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	130					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTGCTGTCCGTCTGTGCTC	0.637																																																	0													56	65	62					18																	44561247		2202	4292	6494	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.389G>A	18.37:g.44561247C>T	ENSP00000331302:p.Arg130Gln		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R130Q	ENST00000332567.4	37	c.389	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	c	0.039	-1.291034	0.01375	.	.	ENSG00000206181	ENST00000332567	T	0.06528	3.29	2.87	-5.74	0.02391	.	2.653420	0.01849	N	0.035797	T	0.07863	0.0197	N	0.20766	0.605	0.09310	N	1	D	0.89917	1.0	P	0.62382	0.901	T	0.49322	-0.8952	10	0.07644	T	0.81	-1.4217	3.7797	0.08676	0.0904:0.3524:0.3526:0.2046	.	130	Q8IYF1	ELOA2_HUMAN	Q	130	ENSP00000331302:R130Q	ENSP00000331302:R130Q	R	-	2	0	TCEB3B	42815245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.355000	0.00247	-5.058000	0.00023	-1.656000	0.00753	CGG	TCEB3B	-	NULL	ENSG00000206181		0.637	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	-	0	98	0	C	NM_016427		44561247	-1	tier1	-	no_errors	ENST00000332567	ensembl	human	known	74_37	missense	34.78	59	32	SNP	0.000	T	T	44561247	C	T	44561247	3	4	85	1	0	0	0	0	1	0	0	0	15729	652	23	1	1876	1	TCEB3B	18	44561247	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1064832	44561247	33516001	286	22836											
ZNF57	126295	genome.wustl.edu	37	chr19	2916945	2916945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatatggtggacagattctGtacacataatgaaggtaatc	14	12	9	6	0	2	2	1	1	1	1	3	3	2	3	0	3	1	2	0	3	5	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:2916945G>A	ENST00000306908.5	+	4	474	c.326G>A	c.(325-327)tGt>tAt	p.C109Y	ZNF57_ENST00000523428.1_Missense_Mutation_p.C77Y|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C109fs*106(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GACAGATTCTGTACACATAAT	0.338																																					NSCLC(150;910 1964 4303 10464 26498)												1	Deletion - Frameshift(1)	large_intestine(1)											80	74	76					19																	2916945		2203	4300	6503	SO:0001583	missense	0			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"Zinc fingers, C2H2-type", "-"	13125	protein-coding gene	gene with protein product			"zinc finger protein 424"	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.326G>A	19.37:g.2916945G>A	ENSP00000303696:p.Cys109Tyr		Q8N6R9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C109Y	ENST00000306908.5	37	c.326	CCDS12098.1	19	.	.	.	.	.	.	.	.	.	.	G	1.447	-0.566150	0.03910	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000522294;ENST00000523428	T;T;T	0.06142	3.47;5.89;3.34	2.07	-2.3	0.06785	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.46261	-0.9204	9	0.07813	T	0.8	.	2.2768	0.04104	0.3219:0.0:0.4383:0.2398	.	109	Q68EA5	ZNF57_HUMAN	Y	109;111;77;77	ENSP00000303696:C109Y;ENSP00000430905:C77Y;ENSP00000430223:C77Y	ENSP00000303696:C109Y	C	+	2	0	ZNF57	2867945	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.393000	0.07305	-0.626000	0.05596	-0.467000	0.05162	TGT	ZNF57	-	NULL	ENSG00000171970		0.338	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF57	HGNC	protein_coding	OTTHUMT00000378969.1		0	32	0	G	NM_173480		2916945	1			no_errors	ENST00000306908	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.001	A	A	2916945	G	A	2916945	3	1	85	1	0	0	0	0	1	0	0	0	18049	1377	48	3	340	3	ZNF57	19	2916945	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		2916945	56212038	287	22837											
ARRDC5	645432	genome.wustl.edu	37	chr19	4891301	4891301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaccttggtggtgttGaagcgggtcacgggggtgtt	6	11	17	7	2	1	2	1	2	0	0	1	2	1	2	1	5	2	2	1	5	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:4891301G>T	ENST00000381781.2	-	3	785	c.786C>A	c.(784-786)ttC>ttA	p.F262L	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	262								p.F262F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGGTGGTGTTGAAGCGGGTCA	0.622																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											84	97	92					19																	4891301		2110	4218	6328	SO:0001583	missense	0				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.786C>A	19.37:g.4891301G>T	ENSP00000371200:p.Phe262Leu			Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.F262L	ENST00000381781.2	37	c.786	CCDS45929.1	19	.	.	.	.	.	.	.	.	.	.	G	9.298	1.052465	0.19907	.	.	ENSG00000205784	ENST00000381781	T	0.16073	2.37	4.91	2.8	0.32819	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.48286	D	0.000187	T	0.21921	0.0528	L	0.29908	0.895	0.32985	D	0.524249	D	0.76494	0.999	D	0.87578	0.998	T	0.10314	-1.0635	10	0.11182	T	0.66	-42.5032	8.2592	0.31775	0.1908:0.0:0.8092:0.0	.	262	A6NEK1	ARRD5_HUMAN	L	262	ENSP00000371200:F262L	ENSP00000371200:F262L	F	-	3	2	ARRDC5	4842301	0.650000	0.27331	0.695000	0.30226	0.013000	0.08279	0.774000	0.26675	1.389000	0.46526	0.650000	0.86243	TTC	ARRDC5	-	pfam_Arrestin_C-like,superfamily_Ig_E-set	ENSG00000205784		0.622	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	HGNC	protein_coding	OTTHUMT00000450443.1		0	38	0	G	XM_292803		4891301	-1			no_errors	ENST00000381781	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.697	T	T	4891301	G	T	4891301	3	4	85	1	0	0	0	0	1	0	0	0	987	1281	45	3	246	3	ARRDC5	19	4891301	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1974356	4891301	54237682	288	22838											
RANBP3	8498	genome.wustl.edu	37	chr19	5921258	5921258	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtggacgccatgtcattGagtctgagcagcccccggcc	6	8	13	14	3	2	2	1	2	1	0	3	3	2	3	4	3	2	1	4	3	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:5921258G>C	ENST00000340578.6	-	14	1341	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	RANBP3_ENST00000034275.8_Silent_p.L360L|RANBP3_ENST00000439268.2_Silent_p.L423L|RANBP3_ENST00000591092.1_Silent_p.L355L|RANBP3_ENST00000541471.1_Silent_p.L300L	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	428	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CCATGTCATTGAGTCTGAGCA	0.637																																																	0													55	62	60					19																	5921258		1994	4167	6161	SO:0001819	synonymous_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1284C>G	19.37:g.5921258G>C			B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.L428	ENST00000340578.6	37	c.1284	CCDS42478.1	19																																																																																			RANBP3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000031823		0.637	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	-	0	47	0	G	NM_007322		5921258	-1	tier1	-	no_errors	ENST00000340578	ensembl	human	known	74_37	silent	12.00	43	6	SNP	1.000	C	C	5921258	G	C	5921258	2	2	85	1	0	0	0	0	0	0	0	1	13074	1277	45	5		5	RANBP3	19	5921258	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	1029957	5921258	53207725	289	22839											
ZNF358	140467	genome.wustl.edu	37	chr19	7585086	7585086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggccgagcgcccctacCgctgcccccactgcggcaaa	8	3	10	20	5	0	0	0	0	0	0	0	1	0	0	6	2	4	2	6	2	2	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:7585086C>T	ENST00000597229.1	+	2	1128	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.R320C|MCOLN1_ENST00000264079.6_5'Flank	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	320					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GCGCCCCTACCGCTGCCCCCA	0.716																																																	0													32	35	34					19																	7585086		2202	4298	6500	SO:0001583	missense	0			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"Zinc fingers, C2H2-type"	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.958C>T	19.37:g.7585086C>T	ENSP00000472305:p.Arg320Cys		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R320C	ENST00000597229.1	37	c.958	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391655	0.42410	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.15139	2.45	4.57	4.57	0.56435	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	L	0.46819	1.47	0.41219	D	0.986499	P	0.36483	0.555	B	0.37015	0.239	T	0.02758	-1.1114	9	0.72032	D	0.01	-31.7135	10.4934	0.44764	0.1941:0.8059:0.0:0.0	.	320	Q9NW07	ZN358_HUMAN	C	320	ENSP00000377873:R320C	ENSP00000354703:R320C	R	+	1	0	ZNF358	7491086	0.000000	0.05858	1.000000	0.80357	0.625000	0.37756	-1.339000	0.02652	2.265000	0.75225	0.462000	0.41574	CGC	ZNF358	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198816		0.716	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	-	0	26	0	C			7585086	1	tier1	-	no_errors	ENST00000394341	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.995	T	T	7585086	C	T	7585086	3	4	85	1	0	0	0	0	1	0	0	0	17915	652	23	1	960	1	ZNF358	19	7585086	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	1663828	7585086	51543897	290	22840											
RAVER1	112812	genome.wustl.edu	37	chr19	10428177	10428177	+	5'Flank	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccgcgtagtggccgcCgaggccctgggagtgctggc	4	6	19	12	4	0	0	0	0	0	0	1	3	1	2	4	5	1	2	4	5	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:10428177C>T	ENST00000393708.3	-	0	0				CTD-2369P2.10_ENST00000452032.2_5'Flank|CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.G143S|FDX1L_ENST00000541276.1_5'Flank|RAVER1_ENST00000293677.6_Missense_Mutation_p.G742S|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000494368.1_5'Flank	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			TAGTGGCCGCCGAGGCCCTGG	0.622																																																	0													46	51	49					19																	10428177		2058	4196	6254	SO:0001631	upstream_gene_variant	0			AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10428177C>T	Exception_encountered		Q8N8B8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G742S	ENST00000393708.3	37	c.2224	CCDS32905.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.333862	0.95758	.	.	ENSG00000161847	ENST00000293677	T	0.44083	0.93	5.01	5.01	0.66863	.	0.683100	0.13253	N	0.401909	T	0.63745	0.2537	M	0.63843	1.955	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.63659	-0.6587	10	0.72032	D	0.01	-8.5941	15.7941	0.78394	0.0:1.0:0.0:0.0	.	742	E9PAU2	.	S	742	ENSP00000293677:G742S	ENSP00000293677:G742S	G	-	1	0	RAVER1	10289177	1.000000	0.71417	0.594000	0.28785	0.990000	0.78478	6.402000	0.73260	2.323000	0.78572	0.561000	0.74099	GGC	RAVER1	-	NULL	ENSG00000161847		0.622	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000280567.2		0	95	0	C			10428177	-1			no_errors	ENST00000293677	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.994	T	T	10428177	C	T	10428177	1	4	85	0	1	0	0	0	0	0	0	0	13139	652	23	1		1	RAVER1	19	10428177	5'Flank	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2843091	10428177	48700806	291	22841											
KRI1	65095	genome.wustl.edu	37	chr19	10671094	10671094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgctccccttcatccaactCagggtcgttccagtattcct	6	12	6	17	2	2	0	2	0	0	0	7	0	6	0	6	1	1	3	6	1	2	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:10671094C>G	ENST00000312962.6	-	9	731	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	KRI1_ENST00000361821.5_Missense_Mutation_p.E234Q|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	232	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E238Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCATCCAACTCAGGGTCGTTC	0.542																																																	1	Substitution - Missense(1)	lung(1)											111	92	98					19																	10671094		2203	4300	6503	SO:0001583	missense	0				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.712G>C	19.37:g.10671094C>G	ENSP00000320917:p.Glu238Gln		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	pfam_KRR1-interact_protein_1	p.E238Q	ENST00000312962.6	37	c.712	CCDS12242.1	19	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854581	0.32791	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09723	3.1;2.95	5.36	1.27	0.21489	.	0.494226	0.22335	N	0.061404	T	0.07369	0.0186	L	0.45285	1.41	0.19575	N	0.999969	B;B	0.27117	0.098;0.168	B;B	0.17433	0.012;0.018	T	0.28681	-1.0036	10	0.23891	T	0.37	-32.6087	6.0666	0.19866	0.0:0.5047:0.3512:0.1441	.	238;234	Q8N9T8;D3YTE0	KRI1_HUMAN;.	Q	238;234;238	ENSP00000320917:E238Q;ENSP00000355366:E234Q	ENSP00000320917:E238Q	E	-	1	0	KRI1	10532094	0.007000	0.16637	1.000000	0.80357	0.890000	0.51754	-0.074000	0.11450	1.223000	0.43536	0.563000	0.77884	GAG	KRI1	-	NULL	ENSG00000129347		0.542	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000317705.1	-	0	33	0	C	NM_023008		10671094	-1	tier1	-	no_errors	ENST00000312962	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.577	G	G	10671094	C	G	10671094	3	3	85	1	0	0	0	0	1	0	0	0	8471	835	29	5	1461	5	KRI1	19	10671094	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	242917	10671094	48457889	292	22842											
ILF3	3609	genome.wustl.edu	37	chr19	10789847	10789847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcactcgcgtgcccacCtggggtcccctccgaggctg	3	8	13	17	3	0	0	0	0	0	0	3	1	2	0	5	3	2	2	5	3	0	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:10789847C>T	ENST00000590261.1	+	6	726	c.726C>T	c.(724-726)acC>acT	p.T242T	ILF3_ENST00000592763.1_Silent_p.T242T|ILF3_ENST00000250241.8_Silent_p.T242T|ILF3_ENST00000420083.1_Silent_p.T242T|ILF3_ENST00000589998.1_Silent_p.T242T|ILF3_ENST00000318511.3_Silent_p.T242T|ILF3_ENST00000407004.3_Silent_p.T242T|ILF3_ENST00000588657.1_Silent_p.T242T|ILF3_ENST00000449870.1_Silent_p.T242T			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	242	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGTGCCCACCTGGGGTCCCC	0.582																																																	0													77	65	69					19																	10789847		2203	4300	6503	SO:0001819	synonymous_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.726C>T	19.37:g.10789847C>T			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.T242	ENST00000590261.1	37	c.726	CCDS12246.1	19																																																																																			ILF3	-	pfam_DZF,smart_DZF	ENSG00000129351		0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	-	0	44	0	C			10789847	1	tier1	-	no_errors	ENST00000449870	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	10789847	C	T	10789847	2	4	85	1	0	0	0	0	0	0	0	1	7739	668	24	3		3	ILF3	19	10789847	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	118753	10789847	48339136	293	22843											
CCDC151	115948	genome.wustl.edu	37	chr19	11537020	11537020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcggcgcgcttcttgcactCacttatgtagcgttcccgct	4	13	9	15	5	2	0	1	0	1	0	4	0	3	0	1	1	2	5	1	1	2	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:11537020C>G	ENST00000356392.4	-	7	994	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	CCDC151_ENST00000591179.1_Missense_Mutation_p.E243Q|CCDC151_ENST00000545100.1_Missense_Mutation_p.E249Q|CCDC151_ENST00000586836.1_Missense_Mutation_p.E112Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	303										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTCTTGCACTCACTTATGTAG	0.632																																																	0													45	47	46					19																	11537020		2003	4176	6179	SO:0001583	missense	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.907G>C	19.37:g.11537020C>G	ENSP00000348757:p.Glu303Gln		B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.E303Q	ENST00000356392.4	37	c.907	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	C	13.36	2.212768	0.39102	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.84298	-1.83;-1.83	4.46	4.46	0.54185	.	0.684758	0.15174	N	0.276495	D	0.88299	0.6399	L	0.58669	1.825	0.09310	N	0.999995	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.58266	0.836;0.836;0.836	T	0.79783	-0.1658	10	0.32370	T	0.25	-16.6016	12.9572	0.58434	0.0:1.0:0.0:0.0	.	303;303;283	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	Q	249;303;282	ENSP00000442987:E249Q;ENSP00000348757:E303Q	ENSP00000348757:E303Q	E	-	1	0	CCDC151	11398020	0.598000	0.26882	0.323000	0.25347	0.064000	0.16182	2.408000	0.44574	2.187000	0.69744	0.561000	0.74099	GAG	CCDC151	-	NULL	ENSG00000198003		0.632	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	-	0	69	0	C	NM_145045		11537020	-1	tier1	-	no_errors	ENST00000356392	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.415	G	G	11537020	C	G	11537020	3	3	85	1	0	0	0	0	1	0	0	0	2793	835	29	5	908	5	CCDC151	19	11537020	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	747173	11537020	47591963	294	22844											
ZNF627	199692	genome.wustl.edu	37	chr19	11728069	11728069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacactggagataaacccTatgaatgcaagcagtgtggg	13	8	11	9	0	1	2	1	1	0	1	1	3	1	2	1	2	3	2	1	2	5	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:11728069T>C	ENST00000361113.5	+	4	959	c.751T>C	c.(751-753)Tat>Cat	p.Y251H	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	251					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGATAAACCCTATGAATGCAA	0.423																																					Melanoma(112;173 1614 10731 17751 23322)												0													55	58	57					19																	11728069		2203	4299	6502	SO:0001583	missense	0			AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"Zinc fingers, C2H2-type", "-"	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		ENST00000361113.5:c.751T>C	19.37:g.11728069T>C	ENSP00000354414:p.Tyr251His		O14846|Q4KMP9|Q6NT81|Q9BRG4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y251H	ENST00000361113.5	37	c.751	CCDS42502.1	19	.	.	.	.	.	.	.	.	.	.	t	17.16	3.317868	0.60524	.	.	ENSG00000198551	ENST00000361113	T	0.21734	1.99	1.36	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23054	0.0557	L	0.46741	1.465	0.80722	D	1	B	0.27351	0.176	B	0.40410	0.328	T	0.12477	-1.0546	9	0.56958	D	0.05	.	6.8018	0.23756	0.0:0.0:0.0:1.0	.	251	Q7L945	ZN627_HUMAN	H	251	ENSP00000354414:Y251H	ENSP00000354414:Y251H	Y	+	1	0	ZNF627	11589069	0.005000	0.15991	0.895000	0.35142	0.751000	0.42716	1.476000	0.35420	0.901000	0.36495	0.260000	0.18958	TAT	ZNF627	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198551		0.423	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF627	HGNC	protein_coding	OTTHUMT00000458875.1	-	0	34	0	T	NM_145295		11728069	1	tier1	-	no_errors	ENST00000361113	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.968	C	C	11728069	T	C	11728069	3	2	85	1	0	0	0	0	1	0	0	0	18099	1522	53	4	765	4	ZNF627	19	11728069	Missense_Mutation	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	191049	11728069	47400914	295	22845											
CD97	976	genome.wustl.edu	37	chr19	14513415	14513415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctgttccccaggccccgCcgtggcgggcatcctctcca	3	9	11	18	3	2	0	0	0	2	0	5	0	4	0	7	3	0	2	7	3	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:14513415C>T	ENST00000242786.5	+	12	1270	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	CD97_ENST00000358600.3_Missense_Mutation_p.A304V|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.A348V	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	397					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCAGGCCCCGCCGTGGCGGGC	0.582																																																	0													81	82	82					19																	14513415		2203	4300	6503	SO:0001583	missense	0				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"CD molecules", "-", "GPCR / Class B : Orphans"	1711	protein-coding gene	gene with protein product	"leukocyte antigen CD97", "seven-span transmembrane protein", "seven-transmembrane, heterodimeric receptor associated with inflammation", "seven transmembrane helix receptor"	601211	"CD97 antigen"			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1190C>T	19.37:g.14513415C>T	ENSP00000242786:p.Ala397Val		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.A397V	ENST00000242786.5	37	c.1190	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154102	0.57259	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.71934	-0.61;-0.53;-0.15	5.25	3.04	0.35103	.	.	.	.	.	T	0.64227	0.2579	L	0.55481	1.735	0.09310	N	1	P;P;B	0.40398	0.716;0.716;0.178	B;B;B	0.43082	0.407;0.407;0.197	T	0.49716	-0.8910	9	0.18710	T	0.47	.	6.4511	0.21903	0.1793:0.7272:0.0:0.0935	.	304;348;397	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	V	397;348;304;347	ENSP00000242786:A397V;ENSP00000349918:A348V;ENSP00000351413:A304V	ENSP00000242786:A397V	A	+	2	0	CD97	14374415	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.477000	0.22196	0.545000	0.28902	0.555000	0.69702	GCC	CD97	-	NULL	ENSG00000123146		0.582	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	-	0	32	0	C	NM_078481		14513415	1	tier1	-	no_errors	ENST00000242786	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.001	T	T	14513415	C	T	14513415	3	4	85	1	0	0	0	0	1	0	0	0	3056	739	26	3	1236	3	CD97	19	14513415	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2785346	14513415	44615568	296	22846											
ZNF333	84449	genome.wustl.edu	37	chr19	14829423	14829423	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgaatgtagtcagtgtggGaaaaccttcacgaggaactt	12	12	11	6	1	2	1	2	1	0	0	2	4	2	3	1	2	2	1	1	2	5	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:14829423G>T	ENST00000292530.6	+	12	1375	c.1284G>T	c.(1282-1284)ggG>ggT	p.G428G	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Silent_p.G319G	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GTCAGTGTGGGAAAACCTTCA	0.468																																					NSCLC(60;75 1281 16985 25154 29885)												0													59	61	60					19																	14829423		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"Zinc fingers, C2H2-type", "-"	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.1284G>T	19.37:g.14829423G>T			Q6P2E6|Q86WS6|Q8TDL0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G428	ENST00000292530.6	37	c.1284	CCDS12316.1	19																																																																																			ZNF333	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160961		0.468	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	-	0	26	0	G	NM_032433		14829423	1	tier1	-	no_errors	ENST00000292530	ensembl	human	known	74_37	silent	12.50	28	4	SNP	1.000	T	T	14829423	G	T	14829423	2	4	85	1	0	0	0	0	0	0	0	1	17898	1161	41	3		3	ZNF333	19	14829423	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	316008	14829423	44299560	297	22847											
ZNF99	7652	genome.wustl.edu	37	chr19	22939092	22939092	+	IGR	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccacattcttcacatttgTaggttttccctccagtatga	8	16	6	11	0	2	1	1	1	1	0	4	1	4	1	3	1	1	3	3	1	2	7			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:22939092T>C	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.Y1010C	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGTAGGTTTTCCC	0.383																																																	0													52	71	65					19																	22939092		2008	4278	6286	SO:0001628	intergenic_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939092T>C			M0R335	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y1010C	ENST00000596209.1	37	c.3029	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	-	2.707	-0.269704	0.05716	.	.	ENSG00000213973	ENST00000397104	T	0.61392	0.11	1.2	-0.417	0.12347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56247	0.1972	.	.	.	0.09310	N	1	P	0.49307	0.922	P	0.50934	0.654	T	0.49652	-0.8917	8	0.72032	D	0.01	.	5.3767	0.16170	0.2488:0.0:0.0:0.7512	.	1009	A8MXY4	ZNF99_HUMAN	C	1010	ENSP00000380293:Y1010C	ENSP00000380293:Y1010C	Y	-	2	0	ZNF99	22730932	0.001000	0.12720	0.011000	0.14972	0.076000	0.17211	-0.202000	0.09451	0.550000	0.28991	0.303000	0.19852	TAC	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1		0	42	0	T	XM_065124		22939092	-1			no_errors	ENST00000397104	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.041	C	C	22939092	T	C	22939092	1	2	85	0	1	0	0	0	0	0	0	0	18252	1638	57	4		4	ZNF99	19	22939092	IGR	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09	8109669	22939092	36189891	298	22848											
SLC7A9	11136	genome.wustl.edu	37	chr19	33333110	33333110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctttccttgtaaatctCatcacgatgagtcctagaat	11	14	6	10	1	3	2	2	1	2	1	6	3	5	2	2	0	1	2	2	0	4	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:33333110C>T	ENST00000023064.4	-	11	1379	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	SLC7A9_ENST00000590341.1_Missense_Mutation_p.M396I|SLC7A9_ENST00000587772.1_Missense_Mutation_p.M396I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	396					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TTGTAAATCTCATCACGATGA	0.418																																					GBM(181;1335 2108 9644 44178 46689)												0													91	90	90					19																	33333110		2203	4300	6503	SO:0001583	missense	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"Solute carriers"	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1188G>A	19.37:g.33333110C>T	ENSP00000023064:p.Met396Ile		B2R9A6	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.M396I	ENST00000023064.4	37	c.1188	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786482	0.70337	.	.	ENSG00000021488	ENST00000023064	D	0.88509	-2.39	5.71	5.71	0.89125	Amino acid permease domain (1);	0.034723	0.85682	D	0.000000	D	0.90369	0.6986	L	0.55213	1.73	0.80722	D	1	P;P	0.43352	0.804;0.804	P;P	0.47251	0.542;0.542	D	0.90878	0.4751	10	0.72032	D	0.01	.	19.4554	0.94886	0.0:1.0:0.0:0.0	.	396;396	Q53FY4;P82251	.;BAT1_HUMAN	I	396	ENSP00000023064:M396I	ENSP00000023064:M396I	M	-	3	0	SLC7A9	38024950	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.137000	0.77295	2.681000	0.91329	0.655000	0.94253	ATG	SLC7A9	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.418	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	-	0	27	0	C			33333110	-1	tier1	-	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	33333110	C	T	33333110	3	4	85	1	0	0	0	0	1	0	0	0	14750	826	29	3	287	3	SLC7A9	19	33333110	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	10394018	33333110	25795873	299	22849											
ZNF540	163255	genome.wustl.edu	37	chr19	38102736	38102736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaaatagattctgatgtGaaacatgattgtaaagaatg	17	11	11	2	0	1	5	0	3	1	2	1	6	1	6	0	1	1	1	0	1	7	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:38102736G>A	ENST00000592533.1	+	5	887	c.555G>A	c.(553-555)gtG>gtA	p.V185V	ZNF540_ENST00000316433.4_Silent_p.V185V|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000589117.1_Silent_p.V153V|ZNF540_ENST00000343599.5_Silent_p.V185V	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	185					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCTGATGTGAAACATGATT	0.348																																																	0													57	57	57					19																	38102736		2203	4298	6501	SO:0001819	synonymous_variant	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"Zinc fingers, C2H2-type", "-"	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.555G>A	19.37:g.38102736G>A			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V185	ENST00000592533.1	37	c.555	CCDS12506.1	19																																																																																			ZNF540	-	NULL	ENSG00000171817		0.348	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0	34	0	G	NM_152606		38102736	1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	silent	22.03	46	13	SNP	0.424	A	A	38102736	G	A	38102736	2	1	85	1	0	0	0	0	0	0	0	1	18023	1277	45	3		3	ZNF540	19	38102736	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4769626	38102736	21026247	300	22850											
PTGIR	5739	genome.wustl.edu	37	chr19	47127434	47127434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcagggtgctggtggccgGccccaccgagccccgcacgt	5	5	14	17	4	1	0	1	0	0	0	1	1	1	0	6	4	2	2	6	4	0	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:47127434G>T	ENST00000291294.2	-	2	182	c.49C>A	c.(49-51)Ccg>Acg	p.P17T	PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.P17T	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	17					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	CTGGTGGCCGGCCCCACCGAG	0.721																																																	0													5	3	4					19																	47127434		1679	3462	5141	SO:0001583	missense	0				CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"GPCR / Class A : Prostanoid receptors"	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.49C>A	19.37:g.47127434G>T	ENSP00000291294:p.Pro17Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_IP_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt	p.P17T	ENST00000291294.2	37	c.49	CCDS12686.1	19	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170423	0.78452	.	.	ENSG00000160013	ENST00000291294	T	0.11063	2.81	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	M	0.78456	2.415	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.03673	-1.1014	10	0.41790	T	0.15	-9.3516	14.872	0.70465	0.0:0.0:1.0:0.0	.	17	P43119	PI2R_HUMAN	T	17	ENSP00000291294:P17T	ENSP00000291294:P17T	P	-	1	0	PTGIR	51819274	0.999000	0.42202	0.998000	0.56505	0.994000	0.84299	4.103000	0.57783	2.367000	0.80283	0.491000	0.48974	CCG	PTGIR	-	prints_Prostglndn_IP_rcpt	ENSG00000160013		0.721	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGIR	HGNC	protein_coding	OTTHUMT00000466581.1		0	22	0	G			47127434	-1			no_errors	ENST00000291294	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.996	T	T	47127434	G	T	47127434	3	4	85	1	0	0	0	0	1	0	0	0	12794	1203	42	3	1119	3	PTGIR	19	47127434	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	9024698	47127434	12001549	301	22851											
GPR32	2854	genome.wustl.edu	37	chr19	51273966	51273966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcttccggatgcctgtctGaggaggtggggtccctccgc	4	10	14	13	2	2	1	0	1	2	0	5	3	5	3	4	5	1	0	4	5	0	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:51273966G>C	ENST00000270590.4	+	1	246	c.109G>C	c.(109-111)Gag>Cag	p.E37Q		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	37					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGCCTGTCTGAGGAGGTGGG	0.597																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													146	116	126					19																	51273966		2203	4300	6503	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.109G>C	19.37:g.51273966G>C	ENSP00000270590:p.Glu37Gln		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.E37Q	ENST00000270590.4	37	c.109	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584644	0.28268	.	.	ENSG00000142511	ENST00000270590	T	0.32272	1.46	2.73	0.454	0.16644	.	.	.	.	.	T	0.11665	0.0284	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.13407	0.009	T	0.34179	-0.9839	9	0.12430	T	0.62	.	3.3129	0.07022	0.1674:0.2834:0.5492:0.0	.	37	O75388	GPR32_HUMAN	Q	37	ENSP00000270590:E37Q	ENSP00000270590:E37Q	E	+	1	0	GPR32	55965778	0.000000	0.05858	0.002000	0.10522	0.351000	0.29236	-0.438000	0.06905	0.405000	0.25532	0.313000	0.20887	GAG	GPR32	-	NULL	ENSG00000142511		0.597	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0	64	0	G			51273966	1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	7.14	91	7	SNP	0.003	C	C	51273966	G	C	51273966	3	2	85	1	0	0	0	0	1	0	0	0	6714	1291	45	5	111	5	GPR32	19	51273966	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	4146532	51273966	7855017	302	22852											
FPR2	2358	genome.wustl.edu	37	chr19	52272700	52272700	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaactggttgcccttctGggcaccgtctggctcaaaga	7	12	10	12	1	4	1	2	0	2	1	4	1	4	1	2	3	2	3	2	3	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:52272700G>T	ENST00000598776.1	+	2	1561	c.789G>T	c.(787-789)ctG>ctT	p.L263L	FPR2_ENST00000598953.1_Silent_p.L263L|FPR2_ENST00000340023.6_Silent_p.L263L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	263					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TTGCCCTTCTGGGCACCGTCT	0.498																																																	0													122	103	109					19																	52272700		2203	4300	6503	SO:0001819	synonymous_variant	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"GPCR / Class A : Formyl peptide receptors", "GPCR / Class A : Leukotriene receptors"	3827	protein-coding gene	gene with protein product		136538	"formyl peptide receptor-like 1"	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.789G>T	19.37:g.52272700G>T			A8K3E2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_DEZorph_rcpt	p.L263	ENST00000598776.1	37	c.789	CCDS12840.1	19																																																																																			FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171049		0.498	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	-	0	41	0	G	NM_001005738		52272700	1	tier1	-	no_errors	ENST00000340023	ensembl	human	known	74_37	silent	20.24	67	17	SNP	0.000	T	T	52272700	G	T	52272700	2	4	85	1	0	0	0	0	0	0	0	1	6063	1335	47	3		3	FPR2	19	52272700	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	998734	52272700	6856283	303	22853											
CACNG8	59283	genome.wustl.edu	37	chr19	54485522	54485522	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctacatcgagcgcagccgcGaggcgcactgccagtctcgc	7	6	12	16	6	2	0	0	0	2	0	4	2	2	0	2	1	4	2	2	1	1	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:54485522G>C	ENST00000270458.2	+	4	800	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	233					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCGCAGCCGCGAGGCGCACTG	0.687																																																	0													28	22	24					19																	54485522		2195	4295	6490	SO:0001583	missense	0			AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"Calcium channel subunits"	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.697G>C	19.37:g.54485522G>C	ENSP00000270458:p.Glu233Gln		Q9BXT0|Q9BY23	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin	p.E233Q	ENST00000270458.2	37	c.697	CCDS33104.1	19	.	.	.	.	.	.	.	.	.	.	.	15.23	2.772882	0.49680	.	.	ENSG00000142408	ENST00000270458	T	0.48836	0.8	1.82	1.82	0.25136	.	0.077548	0.49305	U	0.000149	T	0.47948	0.1473	L	0.28054	0.825	0.31938	N	0.611278	D	0.76494	0.999	D	0.69307	0.963	T	0.55341	-0.8156	9	0.29301	T	0.29	.	9.2411	0.37498	0.0:0.0:1.0:0.0	.	233	Q8WXS5	CCG8_HUMAN	Q	233	ENSP00000270458:E233Q	ENSP00000270458:E233Q	E	+	1	0	CACNG8	59177334	0.980000	0.34600	1.000000	0.80357	0.985000	0.73830	1.468000	0.35332	0.998000	0.38996	0.281000	0.19383	GAG	CACNG8	-	prints_VDCC_g8su	ENSG00000142408		0.687	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	CACNG8	HGNC	protein_coding	OTTHUMT00000139361.3	-	0	61	0	G			54485522	1	tier1	-	no_errors	ENST00000270458	ensembl	human	known	74_37	missense	20.55	58	15	SNP	1.000	C	C	54485522	G	C	54485522	3	2	85	1	0	0	0	0	1	0	0	0	2570	1059	37	5	711	5	CACNG8	19	54485522	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	2212822	54485522	4643461	304	22854											
ZNF776	284309	genome.wustl.edu	37	chr19	58264886	58264886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgacgatgcaaaccatCatcaagaccagaagcagcac	16	5	9	11	1	2	3	2	1	0	2	2	5	2	4	2	1	4	3	2	1	3	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr19:58264886C>T	ENST00000317178.5	+	3	651	c.388C>T	c.(388-390)Cat>Tat	p.H130Y	AC003006.7_ENST00000594684.1_Missense_Mutation_p.H130Y	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TGCAAACCATCATCAAGACCA	0.418																																																	0													100	91	94					19																	58264886		2203	4300	6503	SO:0001583	missense	0			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"Zinc fingers, C2H2-type", "-"	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.388C>T	19.37:g.58264886C>T	ENSP00000321812:p.His130Tyr		Q6ZS36|Q8N968	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H130Y	ENST00000317178.5	37	c.388	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	C	4.465	0.086119	0.08583	.	.	ENSG00000152443	ENST00000317178	T	0.08193	3.12	2.07	-0.217	0.13149	.	.	.	.	.	T	0.07052	0.0179	L	0.61218	1.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48885	-0.8995	9	0.02654	T	1	.	5.861	0.18747	0.0:0.5741:0.0:0.4259	.	130;130	Q68DI1;B4DSC6	ZN776_HUMAN;.	Y	130	ENSP00000321812:H130Y	ENSP00000321812:H130Y	H	+	1	0	ZNF776	62956698	0.531000	0.26338	0.038000	0.18304	0.031000	0.12232	-0.336000	0.07863	0.196000	0.20367	-0.680000	0.03767	CAT	ZNF776	-	NULL	ENSG00000152443		0.418	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	HGNC	protein_coding	OTTHUMT00000346722.2	-	0	47	0	C	NM_173632		58264886	1	tier1	-	no_errors	ENST00000317178	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.015	T	T	58264886	C	T	58264886	3	4	85	1	0	0	0	0	1	0	0	0	18197	826	29	3	398	3	ZNF776	19	58264886	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	3779364	58264886	864097	305	22855											
PAX1	5075	genome.wustl.edu	37	chr20	21686544	21686544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcctctcacgcggcggcgGcggcgcccaagctctcccgg	4	5	14	18	7	2	0	1	0	2	0	4	0	2	0	3	5	2	1	3	5	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr20:21686544G>A	ENST00000398485.2	+	1	248	c.194G>A	c.(193-195)gGc>gAc	p.G65D	PAX1_ENST00000444366.2_5'Flank|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	65					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGCGGCGGCGGCGGCGCCCAA	0.806																																																	0													1	1	1					20																	21686544		52	160	212	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.194G>A	20.37:g.21686544G>A	ENSP00000381499:p.Gly65Asp		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.G65D	ENST00000398485.2	37	c.194	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	9.336	1.061757	0.19987	.	.	ENSG00000125813	ENST00000398485	D	0.97352	-4.35	4.1	2.02	0.26589	.	.	.	.	.	D	0.89884	0.6844	N	0.08118	0	0.58432	D	0.999999	B	0.06786	0.001	B	0.04013	0.001	D	0.83738	0.0202	9	0.87932	D	0	.	4.1006	0.10012	0.252:0.2657:0.4823:0.0	.	65	P15863	PAX1_HUMAN	D	65	ENSP00000381499:G65D	ENSP00000381499:G65D	G	+	2	0	PAX1	21634544	0.000000	0.05858	1.000000	0.80357	0.368000	0.29767	0.005000	0.13129	0.710000	0.31997	-0.707000	0.03653	GGC	PAX1	-	NULL	ENSG00000125813		0.806	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	24	0	G			21686544	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	27.78	13	5	SNP	0.931	A	A	21686544	G	A	21686544	3	1	85	1	0	0	0	0	1	0	0	0	11517	1203	42	3	196	3	PAX1	20	21686544	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		21686544	41338976	306	22856											
PTPRT	11122	genome.wustl.edu	37	chr20	41514563	41514563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgtagtgctcatcaaagGaacagccacctgtagacaaa	14	8	9	10	0	2	1	2	0	0	1	2	2	2	2	2	1	4	4	2	1	5	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr20:41514563G>A	ENST00000373187.1	-	2	97	c.98C>T	c.(97-99)tCc>tTc	p.S33F	PTPRT_ENST00000373184.1_Missense_Mutation_p.S33F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S33F|PTPRT_ENST00000485499.1_5'UTR|PTPRT_ENST00000373190.1_Missense_Mutation_p.S33F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S33F|PTPRT_ENST00000373198.4_Missense_Mutation_p.S33F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S33F			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	33	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCATCAAAGGAACAGCCACC	0.478																																																	0													94	89	91					20																	41514563		1946	4128	6074	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.98C>T	20.37:g.41514563G>A	ENSP00000362283:p.Ser33Phe		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S33F	ENST00000373187.1	37	c.98	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840916	0.71488	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.02301	4.35;4.35;4.35;4.35;4.35;4.35;4.35	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.069166	0.56097	D	0.000035	T	0.05868	0.0153	L	0.46157	1.445	0.47994	D	0.999565	P;P	0.44690	0.809;0.841	B;P	0.46940	0.397;0.532	T	0.15407	-1.0438	10	0.87932	D	0	.	19.5572	0.95357	0.0:0.0:1.0:0.0	.	33;33	O14522-1;O14522	.;PTPRT_HUMAN	F	33	ENSP00000362286:S33F;ENSP00000362283:S33F;ENSP00000362289:S33F;ENSP00000348408:S33F;ENSP00000362294:S33F;ENSP00000362280:S33F;ENSP00000362297:S33F	ENSP00000348408:S33F	S	-	2	0	PTPRT	40947977	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.268000	0.95675	2.713000	0.92767	0.456000	0.33151	TCC	PTPRT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000196090		0.478	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	45	0	G			41514563	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	21.79	61	17	SNP	1.000	A	A	41514563	G	A	41514563	3	1	85	1	0	0	0	0	1	0	0	0	12857	1174	41	3	4408	3	PTPRT	20	41514563	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	19828019	41514563	21510957	307	22857											
GNAS	2778	genome.wustl.edu	37	chr20	57485067	57485067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctgctcgctgagaaaGtccttgctgggaaatcgaag	12	9	12	8	2	1	2	0	1	1	2	4	5	2	3	1	1	2	3	1	1	4	1			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr20:57485067G>T	ENST00000371085.3	+	11	1325	c.901G>T	c.(901-903)Gtc>Ttc	p.V301F	GNAS_ENST00000354359.7_Missense_Mutation_p.V302F|GNAS_ENST00000265620.7_Missense_Mutation_p.V286F|GNAS_ENST00000371100.4_Missense_Mutation_p.V944F|GNAS_ENST00000371095.3_Missense_Mutation_p.V287F|GNAS_ENST00000306090.10_Missense_Mutation_p.V287F|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.V930F	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	301					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGCTGAGAAAGTCCTTGCTGG	0.507			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													129	126	127					20																	57485067		2203	4300	6503	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.901G>T	20.37:g.57485067G>T	ENSP00000360126:p.Val301Phe		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.V302F	ENST00000371085.3	37	c.904	CCDS13472.1	20	.	.	.	.	.	.	.	.	.	.	G	32	5.142971	0.94560	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.51	5.29	5.29	0.74685	.	0.115720	0.64402	D	0.000019	D	0.96027	0.8706	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.997;0.999;0.997;1.0	D;D;D;D	0.91635	0.973;0.983;0.958;0.999	D	0.96719	0.9531	10	0.87932	D	0	.	19.2712	0.94010	0.0:0.0:1.0:0.0	.	301;302;286;944	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	F	944;930;287;301;302;286;287;67	ENSP00000360141:V944F;ENSP00000360143:V930F;ENSP00000360136:V287F;ENSP00000360126:V301F;ENSP00000346328:V302F;ENSP00000265620:V286F;ENSP00000304472:V287F	ENSP00000265620:V286F	V	+	1	0	GNAS	56918462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.457000	0.80775	2.625000	0.88918	0.591000	0.81541	GTC	GNAS	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000087460		0.507	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	-	0	38	0	G	NM_000516		57485067	1	tier1	-	no_errors	ENST00000354359	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	T	T	57485067	G	T	57485067	3	4	85	1	0	0	0	0	1	0	0	0	6536	1029	36	3	3760	3	GNAS	20	57485067	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	15970504	57485067	5540453	308	22858											
C20orf166	128826	genome.wustl.edu	37	chr20	61167762	61167762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccccagccccacagtgctCcagtgtgtgaagggcaacag	10	5	12	14	0	0	1	0	1	0	0	1	1	1	1	5	1	4	2	5	1	2	0	rs375026064		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr20:61167762C>T	ENST00000370527.3	+	4	1011	c.232C>T	c.(232-234)Cca>Tca	p.P78S	C20orf166_ENST00000370523.1_Missense_Mutation_p.P60S|C20orf166_ENST00000370524.2_Missense_Mutation_p.P60S	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166									p.P78S(1)		endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			CCACAGTGCTCCAGTGTGTGA	0.522																																																	1	Substitution - Missense(1)	lung(1)											54	57	56					20																	61167762		2045	4180	6225	SO:0001583	missense	0			AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"MIR133A2 host gene"						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.232C>T	20.37:g.61167762C>T	ENSP00000359558:p.Pro78Ser			Missense_Mutation	SNP	NULL	p.P78S	ENST00000370527.3	37	c.232	CCDS46627.1	20	.	.	.	.	.	.	.	.	.	.	C	5.965	0.361996	0.11296	.	.	ENSG00000174407	ENST00000370527;ENST00000370524;ENST00000370523	T;T;T	0.35605	1.3;1.3;1.3	1.25	-2.5	0.06384	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.17048	-1.0382	9	0.87932	D	0	.	0.076	0.00027	0.2479:0.2221:0.2488:0.2812	.	78	Q9H1L0	CT166_HUMAN	S	78;60;60	ENSP00000359558:P78S;ENSP00000359555:P60S;ENSP00000359554:P60S	ENSP00000359554:P60S	P	+	1	0	C20orf166	60578207	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.850000	0.00732	-1.385000	0.02101	0.313000	0.20887	CCA	C20orf166	-	NULL	ENSG00000174407		0.522	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf166	HGNC	protein_coding	OTTHUMT00000109262.1		0	45	0	C	NM_178463		61167762	1			no_errors	ENST00000370527	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.000	T	T	61167762	C	T	61167762	3	4	85	1	0	0	0	0	1	0	0	0	2102	855	30	3	242	3	C20orf166	20	61167762	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	3682695	61167762	1857758	309	22859											
DIDO1	11083	genome.wustl.edu	37	chr20	61513083	61513083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaggagccctttccacctCgtggcgccgccctcgctcca	4	9	9	19	4	1	0	1	0	0	0	5	1	3	1	6	2	1	1	6	2	0	2			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr20:61513083C>T	ENST00000266070.4	-	16	4550	c.4225G>A	c.(4225-4227)Gag>Aag	p.E1409K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1409K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E1409*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												1	Substitution - Nonsense(1)	lung(1)											75	81	79					20																	61513083		2203	4300	6503	SO:0001583	missense	0			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"Zinc fingers, PHD-type"	2680	protein-coding gene	gene with protein product		604140	"chromosome 20 open reading frame 158", "death associated transcription factor 1"	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4225G>A	20.37:g.61513083C>T	ENSP00000266070:p.Glu1409Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E1409K	ENST00000266070.4	37	c.4225	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049421	0.55218	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09723	2.95;2.95	5.67	5.67	0.87782	.	0.309842	0.22708	N	0.056604	T	0.09818	0.0241	L	0.50333	1.59	0.40496	D	0.980595	P	0.35226	0.491	B	0.20184	0.028	T	0.05131	-1.0904	10	0.52906	T	0.07	-29.0191	10.8151	0.46571	0.0:0.8859:0.0:0.1141	.	1409	Q9BTC0	DIDO1_HUMAN	K	1409	ENSP00000266070:E1409K;ENSP00000378752:E1409K	ENSP00000266070:E1409K	E	-	1	0	DIDO1	60983528	0.029000	0.19370	0.011000	0.14972	0.001000	0.01503	2.321000	0.43805	2.667000	0.90743	0.563000	0.77884	GAG	DIDO1	-	NULL	ENSG00000101191		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	-	0	30	0	C	NM_080796		61513083	-1	tier1	-	no_errors	ENST00000266070	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.021	T	T	61513083	C	T	61513083	3	4	85	1	0	0	0	0	1	0	0	0	4536	893	31	1	2501	1	DIDO1	20	61513083	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	345321	61513083	1512437	310	22860											
USP16	10600	genome.wustl.edu	37	chr21	30411852	30411852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagccaggagctgcttcGctacttattggatgggatga	10	10	13	8	1	0	2	0	1	0	1	1	5	0	5	1	3	4	3	1	3	2	4	rs537793903		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr21:30411852G>A	ENST00000334352.4	+	10	1145	c.914G>A	c.(913-915)cGc>cAc	p.R305H	USP16_ENST00000535828.1_Intron|USP16_ENST00000399976.2_Missense_Mutation_p.R305H|USP16_ENST00000399975.3_Missense_Mutation_p.R304H	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16											breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						GAGCTGCTTCGCTACTTATTG	0.398													G|||	1	0.000199681	0	0	5008	,	,		16622	0.001		0	False		,,,				2504	0				Melanoma(92;625 1444 27493 34101 44971)												0													110	98	102					21																	30411852		2203	4300	6503	SO:0001583	missense	0			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"Ubiquitin-specific peptidases"	12614	protein-coding gene	gene with protein product		604735	"ubiquitin specific protease 16"			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.914G>A	21.37:g.30411852G>A	ENSP00000334808:p.Arg305His			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R305H	ENST00000334352.4	37	c.914	CCDS13583.1	21	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666056	0.47677	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352	T;T;T	0.32023	1.47;1.47;1.47	5.25	5.25	0.73442	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	L	0.42744	1.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.939;0.975;0.985	T	0.11155	-1.0599	10	0.19147	T	0.46	.	19.0466	0.93022	0.0:0.0:1.0:0.0	.	290;304;305	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	H	304;305;305	ENSP00000382857:R304H;ENSP00000382858:R305H;ENSP00000334808:R305H	ENSP00000334808:R305H	R	+	2	0	USP16	29333723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.282000	0.78630	2.742000	0.94016	0.650000	0.86243	CGC	USP16	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000156256		0.398	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	USP16	HGNC	protein_coding	OTTHUMT00000171847.1		0	47	0	G			30411852	1			no_errors	ENST00000334352	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.997	A	A	30411852	G	A	30411852	3	1	85	1	0	0	0	0	1	0	0	0	17096	1087	38	1	944	1	USP16	21	30411852	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		30411852	17718043	311	22861											
C2CD2	25966	genome.wustl.edu	37	chr21	43339044	43339044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctaatctggaggtcctctCtcttctccttcatgtggaac	7	14	8	12	0	5	0	1	0	4	0	8	2	6	2	2	3	2	1	2	3	2	3			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr21:43339044C>G	ENST00000380486.3	-	4	759	c.518G>C	c.(517-519)aGa>aCa	p.R173T	C2CD2_ENST00000329623.7_Missense_Mutation_p.R18T	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	173						cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAGGTCCTCTCTCTTCTCCTT	0.473																																																	0													97	86	90					21																	43339044		2203	4300	6503	SO:0001583	missense	0			AB047784	CCDS13677.1, CCDS42933.1	21q22.3	2008-11-24	2007-10-17	2007-10-17	ENSG00000157617	ENSG00000157617			1266	protein-coding gene	gene with protein product	"TMEM24-like"		"chromosome 21 open reading frame 25"	C21orf25		15289880	Standard	NM_015500		Approved	TMEM24L, DKFZP586F0422, C21orf258	uc002yzw.3	Q9Y426	OTTHUMG00000086779	ENST00000380486.3:c.518G>C	21.37:g.43339044C>G	ENSP00000369853:p.Arg173Thr		Q5R2V7|Q6AHX8|Q9NSE6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.R173T	ENST00000380486.3	37	c.518	CCDS42933.1	21	.	.	.	.	.	.	.	.	.	.	C	2.125	-0.400423	0.04865	.	.	ENSG00000157617	ENST00000329623;ENST00000380486	T;T	0.23147	1.92;1.93	5.53	0.664	0.17890	.	0.460473	0.23083	N	0.052137	T	0.17534	0.0421	M	0.62723	1.935	0.09310	N	1	P;P	0.38922	0.454;0.651	B;B	0.32677	0.15;0.15	T	0.19614	-1.0300	10	0.18710	T	0.47	-5.4656	4.8639	0.13598	0.0:0.5278:0.1455:0.3267	.	18;173	Q6P6D1;Q9Y426	.;CU025_HUMAN	T	18;173	ENSP00000329302:R18T;ENSP00000369853:R173T	ENSP00000329302:R18T	R	-	2	0	C2CD2	42212113	0.006000	0.16342	0.023000	0.16930	0.009000	0.06853	0.376000	0.20535	-0.152000	0.11156	-0.742000	0.03525	AGA	C2CD2	-	NULL	ENSG00000157617		0.473	C2CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD2	HGNC	protein_coding	OTTHUMT00000195228.2	-	0	41	0	C	NM_015500		43339044	-1	tier1	-	no_errors	ENST00000380486	ensembl	human	known	74_37	missense	16.13	52	10	SNP	0.168	G	G	43339044	C	G	43339044	3	3	85	1	0	0	0	0	1	0	0	0	2159	913	32	5	1616	5	C2CD2	21	43339044	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	12927192	43339044	4790851	312	22862											
KRTAP10-11	386678	genome.wustl.edu	37	chr21	46066408	46066408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatgtctgtctgctccagCgcttactccgactcctggca	6	11	8	16	2	2	0	0	0	2	0	5	1	5	0	4	1	3	3	4	1	1	1	rs587690905		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr21:46066408C>A	ENST00000334670.8	+	1	78	c.33C>A	c.(31-33)agC>agA	p.S11R	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	11						keratin filament (GO:0045095)		p.S11S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCTGCTCCAGCGCTTACTCCG	0.672																																																	1	Substitution - coding silent(1)	ovary(1)											69	74	72					21																	46066408		2203	4298	6501	SO:0001583	missense	0			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"Keratin associated proteins"	20528	protein-coding gene	gene with protein product			"keratin associated protein 10-11"	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.33C>A	21.37:g.46066408C>A	ENSP00000334197:p.Ser11Arg		A2RRF9	Missense_Mutation	SNP	NULL	p.S11R	ENST00000334670.8	37	c.33	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	c	6.581	0.475624	0.12521	.	.	ENSG00000243489	ENST00000334670	T	0.08102	3.13	3.83	-0.361	0.12564	.	.	.	.	.	T	0.27832	0.0685	M	0.87097	2.86	0.18873	N	0.999989	D	0.89917	1.0	D	0.72625	0.978	T	0.04481	-1.0948	9	0.72032	D	0.01	.	7.6955	0.28592	0.0:0.5193:0.0:0.4807	.	11	P60412	KR10B_HUMAN	R	11	ENSP00000334197:S11R	ENSP00000334197:S11R	S	+	3	2	KRTAP10-11	44890836	0.061000	0.20836	0.931000	0.37212	0.007000	0.05969	-1.076000	0.03420	0.006000	0.14734	0.462000	0.41574	AGC	KRTAP10-11	-	NULL	ENSG00000243489		0.672	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	-	0	162	0	C	NM_198692		46066408	1	tier1	-	no_errors	ENST00000334670	ensembl	human	known	74_37	missense	5.56	119	7	SNP	0.212	A	A	46066408	C	A	46066408	3	1	85	1	0	0	0	0	1	0	0	0	8534	767	27	2	35	2	KRTAP10-11	21	46066408	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2727364	46066408	2063487	313	22863											
PI4KA	5297	genome.wustl.edu	37	chr22	21067673	21067673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggagtctgagcggcaccGcagacctgcccgcagggaga	8	4	15	14	4	1	3	0	1	1	2	2	5	1	4	3	3	2	3	3	3	0	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr22:21067673G>A	ENST00000572273.1	-	48	5523	c.5293C>T	c.(5293-5295)Cgg>Tgg	p.R1765W	PI4KA_ENST00000414196.3_Missense_Mutation_p.R575W|PI4KA_ENST00000255882.6_Missense_Mutation_p.R1823W			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1765	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAGCGGCACCGCAGACCTGCC	0.637																																					GBM(136;1332 1831 3115 23601 50806)												0													19	15	16					22																	21067673		2191	4284	6475	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5293C>T	22.37:g.21067673G>A	ENSP00000458238:p.Arg1765Trp		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R1823W	ENST00000572273.1	37	c.5467		22	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440753	0.43326	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;D	0.81499	-1.08;-1.5	4.43	4.43	0.53597	Protein kinase-like domain (1);	0.467738	0.24134	N	0.041232	T	0.75236	0.3822	L	0.40543	1.245	0.41088	D	0.985573	P;D	0.56746	0.862;0.977	B;P	0.44860	0.339;0.462	T	0.79347	-0.1841	10	0.72032	D	0.01	-20.3997	12.6865	0.56949	0.0:0.0:0.835:0.1649	.	158;1765	A8MTF1;P42356	.;PI4KA_HUMAN	W	1765;575;158	ENSP00000402981:R575W;ENSP00000382162:R158W	ENSP00000255882:R1765W	R	-	1	2	PI4KA	19397673	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	4.247000	0.58750	2.460000	0.83146	0.544000	0.68410	CGG	PI4KA	-	superfamily_Kinase-like_dom	ENSG00000241973		0.637	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding			0	82	0	G	NM_058004		21067673	-1			no_errors	ENST00000255882	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	A	A	21067673	G	A	21067673	3	1	85	1	0	0	0	0	1	0	0	0	11912	1086	38	1	873	1	PI4KA	22	21067673	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09		21067673	30236893	314	22864											
TMEM211	255349	genome.wustl.edu	37	chr22	25334229	25334229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaggccaacaggagccagCctccgaggagcatcacagct	12	4	12	13	1	1	1	1	1	0	0	2	4	2	3	4	3	5	2	4	3	2	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr22:25334229C>T	ENST00000423535.1	-	2	226	c.227G>A	c.(226-228)gGc>gAc	p.G76D	TMEM211_ENST00000382744.1_Missense_Mutation_p.G5D|TMEM211_ENST00000407886.1_Missense_Mutation_p.G5D			Q6ICI0	TM211_HUMAN	transmembrane protein 211	76						integral component of membrane (GO:0016021)		p.G5A(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CAGGAGCCAGCCTCCGAGGAG	0.577																																																	1	Substitution - Missense(1)	ovary(1)											63	59	60					22																	25334229		2203	4300	6503	SO:0001583	missense	0				CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.227G>A	22.37:g.25334229C>T	ENSP00000387813:p.Gly76Asp			Missense_Mutation	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.G76D	ENST00000423535.1	37	c.227		22	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872316	0.72180	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	T;T;T	0.80566	-1.39;-1.02;-1.39	4.06	4.06	0.47325	.	0.000000	0.49305	D	0.000158	D	0.88235	0.6382	M	0.71581	2.175	0.44871	D	0.997882	D	0.89917	1.0	D	0.85130	0.997	D	0.89623	0.3850	10	0.87932	D	0	-37.4368	14.3359	0.66589	0.0:1.0:0.0:0.0	.	76	Q6ICI0	TM211_HUMAN	D	5;76;5	ENSP00000385494:G5D;ENSP00000387813:G76D;ENSP00000372192:G5D	ENSP00000372192:G5D	G	-	2	0	TMEM211	23664229	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.293000	0.43558	2.308000	0.77769	0.538000	0.68166	GGC	TMEM211	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000206069		0.577	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	TMEM211	HGNC	protein_coding			0	36	0	C	NM_001001663		25334229	-1			no_errors	ENST00000423535	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	25334229	C	T	25334229	3	4	85	1	0	0	0	0	1	0	0	0	16182	739	26	3	383	3	TMEM211	22	25334229	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	4266556	25334229	25970337	315	22865											
L3MBTL2	83746	genome.wustl.edu	37	chr22	41623140	41623140	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgaagctggaggccgtGgacctgatggagccccggct	7	6	17	11	2	0	2	0	2	0	0	0	5	0	5	4	6	2	3	4	6	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr22:41623140G>T	ENST00000216237.5	+	14	1793	c.1635G>T	c.(1633-1635)gtG>gtT	p.V545V		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	545					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGAGGCCGTGGACCTGATGG	0.612																																																	0													49	35	40					22																	41623140		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.1635G>T	22.37:g.41623140G>T			Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Silent	SNP	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.V545	ENST00000216237.5	37	c.1635	CCDS14011.1	22																																																																																			L3MBTL2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000100395		0.612	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL2	HGNC	protein_coding	OTTHUMT00000320613.1		0	61	0	G	NM_031488		41623140	1			no_errors	ENST00000216237	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T	T	41623140	G	T	41623140	2	4	85	1	0	0	0	0	0	0	0	1	8620	1335	47	3		3	L3MBTL2	22	41623140	Silent	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	16288911	41623140	9681426	316	22866											
TBC1D22A	25771	genome.wustl.edu	37	chr22	47507497	47507497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactagaagaaaaagattttCaagtaagtaaatgtcttttc	17	14	6	4	0	2	3	1	0	1	3	3	3	2	3	0	0	1	2	0	0	9	8			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chr22:47507497C>G	ENST00000337137.4	+	12	1589	c.1423C>G	c.(1423-1425)Caa>Gaa	p.Q475E	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.Q397E|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.Q428E|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.Q416E	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	475							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AAAAGATTTTCAAGTAAGTAA	0.368																																																	0													64	64	64					22																	47507497		2203	4300	6503	SO:0001583	missense	0			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1423C>G	22.37:g.47507497C>G	ENSP00000336724:p.Gln475Glu		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q475E	ENST00000337137.4	37	c.1423	CCDS14078.1	22	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361891	0.82353	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	5.3	5.3	0.74995	Rab-GAP/TBC domain (1);	0.057629	0.64402	D	0.000001	T	0.35219	0.0924	M	0.75777	2.31	0.80722	D	1	B;P;P;B	0.49961	0.21;0.919;0.93;0.21	B;P;P;B	0.47827	0.03;0.475;0.558;0.03	T	0.19289	-1.0310	10	0.56958	D	0.05	.	16.4417	0.83903	0.0:1.0:0.0:0.0	.	475;397;416;475	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	E	475;416;397;428	ENSP00000336724:Q475E;ENSP00000384036:Q416E;ENSP00000347932:Q397E;ENSP00000385634:Q428E	ENSP00000336724:Q475E	Q	+	1	0	TBC1D22A	45886161	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.632000	0.74281	2.462000	0.83206	0.655000	0.94253	CAA	TBC1D22A	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000054611		0.368	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22A	HGNC	protein_coding	OTTHUMT00000317600.3	-	0	56	0	C	NM_014346		47507497	1	tier1	-	no_errors	ENST00000337137	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	G	G	47507497	C	G	47507497	3	3	85	1	0	0	0	0	1	0	0	0	15658	827	29	5	1469	5	TBC1D22A	22	47507497	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	5884357	47507497	3797069	317	22867											
SYAP1	94056	genome.wustl.edu	37	chrX	16761850	16761850	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatttccttcgtgacccTccggctggcgtgcaatttaa	8	12	10	11	3	0	1	0	1	0	0	3	2	2	2	3	3	1	2	3	3	3	4			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:16761850T>A	ENST00000380155.3	+	5	555	c.462T>A	c.(460-462)ccT>ccA	p.P154P		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	154						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					TTCGTGACCCTCCGGCTGGCG	0.408																																																	0													152	146	148					X																	16761850		2203	4300	6503	SO:0001819	synonymous_variant	0			AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"SAP47 homolog (Drosophila)"					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.462T>A	X.37:g.16761850T>A			Q68CP1|Q96C60|Q96JQ6|Q96T20	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.P154	ENST00000380155.3	37	c.462	CCDS14177.1	X																																																																																			SYAP1	-	NULL	ENSG00000169895		0.408	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYAP1	HGNC	protein_coding	OTTHUMT00000055904.1	-	0	53	0	T	NM_032796		16761850	1	tier1	-	no_errors	ENST00000380155	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.994	A	A	16761850	T	A	16761850	2	1	85	1	0	0	0	0	0	0	0	1	15473	1538	54	5		5	SYAP1	23	16761850	Silent	SNP	T	TCGA-L5-A8NK-01A-21D-A37C-09		16761850	138508710	318	22868											
PHKA2	5256	genome.wustl.edu	37	chrX	18936848	18936848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacagaaagtatgtcccgCgtggagtggatagcactgaa	13	8	12	8	2	1	2	1	1	0	1	2	4	2	4	1	2	1	2	1	2	4	2	rs151240321		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:18936848C>T	ENST00000379942.4	-	19	2753	c.2088G>A	c.(2086-2088)acG>acA	p.T696T		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	696					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTATGTCCCGCGTGGAGTGGA	0.423																																																	0								C		0,3835		0,0,0,1632,571	118	103	108		2088	-1.1	1	X	dbSNP_134	108	2,6726		0,1,1,2427,1871	no	coding-synonymous	PHKA2	NM_000292.2		0,1,1,4059,2442	TT,TC,T,CC,C		0.0297,0.0,0.0189		696/1236	18936848	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2088G>A	X.37:g.18936848C>T			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T696	ENST00000379942.4	37	c.2088	CCDS14190.1	X																																																																																			PHKA2	-	pfam_Glyco_hydro_15	ENSG00000044446		0.423	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	-	0	39	0	C	NM_000292		18936848	-1	tier1	rs151240321	no_errors	ENST00000379942	ensembl	human	known	74_37	silent	14.63	35	6	SNP	0.949	T	T	18936848	C	T	18936848	2	4	85	1	0	0	0	0	0	0	0	1	11883	755	27	1		1	PHKA2	23	18936848	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	2174998	18936848	136333712	319	22869											
RP2	6102	genome.wustl.edu	37	chrX	46713020	46713020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagactgtgagaactgtaAcatctatatttttgatcact	13	15	6	7	0	3	3	2	2	1	2	3	4	3	3	0	0	2	1	0	0	5	5			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:46713020A>G	ENST00000218340.3	+	2	373	c.212A>G	c.(211-213)aAc>aGc	p.N71S		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	71	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GAGAACTGTAACATCTATATT	0.423																																																	0													112	102	105					X																	46713020		2203	4300	6503	SO:0001583	missense	0			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.212A>G	X.37:g.46713020A>G	ENSP00000218340:p.Asn71Ser		Q86XJ7|Q9NU67	Missense_Mutation	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.N71S	ENST00000218340.3	37	c.212	CCDS14270.1	X	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650520	0.29336	.	.	ENSG00000102218	ENST00000218340	D	0.86230	-2.09	5.62	4.47	0.54385	CARP motif (1);Tubulin binding cofactor C (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);C-CAP/cofactor C-like domain (1);	0.174459	0.64402	D	0.000010	T	0.76378	0.3979	N	0.25890	0.77	0.43719	D	0.996195	B	0.06786	0.001	B	0.04013	0.001	T	0.68659	-0.5350	10	0.16420	T	0.52	-17.8842	9.1468	0.36937	0.852:0.0:0.148:0.0	.	71	O75695	XRP2_HUMAN	S	71	ENSP00000218340:N71S	ENSP00000218340:N71S	N	+	2	0	RP2	46597964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.951000	0.56684	1.879000	0.54435	0.417000	0.27973	AAC	RP2	-	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	ENSG00000102218		0.423	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	-	0	63	0	A	NM_006915		46713020	1	tier1	-	no_errors	ENST00000218340	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	G	G	46713020	A	G	46713020	3	3	85	1	0	0	0	0	1	0	0	0	13579	43	2	4	218	4	RP2	23	46713020	Missense_Mutation	SNP	A	TCGA-L5-A8NK-01A-21D-A37C-09	27776172	46713020	108557540	320	22870											
HDX	139324	genome.wustl.edu	37	chrX	83599383	83599383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagactcaggctgctcaGagaaatcagcagggcctcct	12	6	10	13	0	3	2	3	0	0	2	4	3	4	2	3	2	3	3	3	2	2	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:83599383G>T	ENST00000297977.5	-	6	1646	c.1535C>A	c.(1534-1536)tCt>tAt	p.S512Y	HDX_ENST00000506585.2_Missense_Mutation_p.S454Y|HDX_ENST00000373177.2_Missense_Mutation_p.S512Y	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	512						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGGCTGCTCAGAGAAATCAGC	0.443																																					Pancreas(53;231 1169 36156 43751 51139)												0													81	79	79					X																	83599383		2203	4300	6503	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1535C>A	X.37:g.83599383G>T	ENSP00000297977:p.Ser512Tyr		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S512Y	ENST00000297977.5	37	c.1535	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333910	0.81801	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.46451	0.87;0.87;0.87	5.47	5.47	0.80525	.	0.119478	0.64402	D	0.000017	T	0.56455	0.1986	L	0.32530	0.975	0.58432	D	0.999992	D	0.76494	0.999	D	0.83275	0.996	T	0.60311	-0.7288	10	0.87932	D	0	-28.0279	18.3986	0.90507	0.0:0.0:1.0:0.0	.	512	Q7Z353	HDX_HUMAN	Y	512;454;512	ENSP00000297977:S512Y;ENSP00000362272:S454Y;ENSP00000423670:S512Y	ENSP00000297977:S512Y	S	-	2	0	HDX	83486039	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.968000	0.70413	2.285000	0.76669	0.600000	0.82982	TCT	HDX	-	NULL	ENSG00000165259		0.443	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0	75	0	G	NM_144657		83599383	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	missense	18.87	43	10	SNP	1.000	T	T	83599383	G	T	83599383	3	4	85	1	0	0	0	0	1	0	0	0	7053	942	33	3	557	3	HDX	23	83599383	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	36886363	83599383	71671177	321	22871											
CSTF2	1478	genome.wustl.edu	37	chrX	100079173	100079173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaccctcagccagtccatgGtgctgggcctggctcaggat	7	8	12	14	0	2	0	2	0	0	0	3	1	3	1	4	4	3	2	4	4	1	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:100079173G>A	ENST00000372972.2	+	6	645	c.629G>A	c.(628-630)gGt>gAt	p.G210D	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.G210D	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	210	Gly/Pro-rich.|Interactions with CSTF3 and SYMPK.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CCAGTCCATGGTGCTGGGCCT	0.483																																																	0													80	75	76					X																	100079173		2203	4300	6503	SO:0001583	missense	0			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"RNA binding motif (RRM) containing"	2484	protein-coding gene	gene with protein product		300907	"cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.629G>A	X.37:g.100079173G>A	ENSP00000362063:p.Gly210Asp		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G210D	ENST00000372972.2	37	c.629	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	4.987	0.183305	0.09495	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000413437	T;T;T	0.16073	2.64;2.61;2.37	4.05	-0.112	0.13572	.	0.449872	0.24920	N	0.034553	T	0.06280	0.0162	N	0.08118	0	0.22001	N	0.999422	B;B;B	0.19583	0.021;0.01;0.037	B;B;B	0.20767	0.031;0.014;0.016	T	0.32798	-0.9893	10	0.23302	T	0.38	0.026	3.9775	0.09481	0.0879:0.2921:0.4669:0.1531	.	210;210;210	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	D	210;210;201	ENSP00000387996:G210D;ENSP00000362063:G210D;ENSP00000415705:G201D	ENSP00000362063:G210D	G	+	2	0	CSTF2	99965829	0.842000	0.29525	0.027000	0.17364	0.984000	0.73092	1.071000	0.30666	-0.142000	0.11354	0.600000	0.82982	GGT	CSTF2	-	NULL	ENSG00000101811		0.483	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	-	0	69	0	G	NM_001325		100079173	1	tier1	-	no_errors	ENST00000415585	ensembl	human	known	74_37	missense	37.74	33	20	SNP	0.359	A	A	100079173	G	A	100079173	3	1	85	1	0	0	0	0	1	0	0	0	3993	1261	44	3	651	3	CSTF2	23	100079173	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	16479790	100079173	55191387	322	22872											
ESX1	80712	genome.wustl.edu	37	chrX	103495090	103495090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcggcccgggtggcagaGgcgccatgggcggcccgggt	3	4	22	12	5	0	1	0	0	0	1	0	1	0	1	3	8	0	1	3	8	0	0	rs200088361		TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:103495090G>C	ENST00000372588.4	-	4	1123	c.1040C>G	c.(1039-1041)cCt>cGt	p.P347R		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	347	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)	p.P347R(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GGGTGGCAGAGGCGCCATGGG	0.796																																					Pancreas(200;1705 2227 25194 28471 45274)												1	Substitution - Missense(1)	skin(1)											2	3	3					X																	103495090		902	2342	3244	SO:0001583	missense	0			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"Homeoboxes / PRD class"	14865	protein-coding gene	gene with protein product		300154	"extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1040C>G	X.37:g.103495090G>C	ENSP00000361669:p.Pro347Arg		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU	p.P347R	ENST00000372588.4	37	c.1040	CCDS14516.1	X	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879915	0.33162	.	.	ENSG00000123576	ENST00000372588	T	0.62788	0.0	3.19	2.27	0.28462	.	.	.	.	.	T	0.65984	0.2744	L	0.43923	1.385	0.09310	N	1	D	0.69078	0.997	D	0.63488	0.915	T	0.52275	-0.8597	9	0.31617	T	0.26	-7.6561	8.3413	0.32245	0.1439:0.0:0.8561:0.0	.	347	Q8N693	ESX1_HUMAN	R	347	ENSP00000361669:P347R	ENSP00000361669:P347R	P	-	2	0	ESX1	103381746	0.731000	0.28111	0.047000	0.18901	0.019000	0.09904	0.954000	0.29175	1.347000	0.45714	0.483000	0.47432	CCT	ESX1	-	NULL	ENSG00000123576		0.796	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESX1	HGNC	protein_coding	OTTHUMT00000057763.2		0	17	0	G	NM_153448		103495090	-1			no_errors	ENST00000372588	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.116	C	C	103495090	G	C	103495090	3	2	85	1	0	0	0	0	1	0	0	0	5279	1000	35	5	184	5	ESX1	23	103495090	Missense_Mutation	SNP	G	TCGA-L5-A8NK-01A-21D-A37C-09	3415917	103495090	51775470	323	22873											
PRRG3	79057	genome.wustl.edu	37	chrX	150869317	150869317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggggcaggaccacagtcCggctagagagcaccctctac	9	4	15	13	1	1	1	0	0	1	1	2	3	2	2	3	5	2	3	3	5	2	2	rs143276868	byFrequency	TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:150869317C>T	ENST00000370353.3	+	4	898	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	PRRG3_ENST00000538575.1_Missense_Mutation_p.R170W			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	170						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GACCACAGTCCGGCTAGAGAG	0.667																																																	0								C	TRP/ARG	1,3833		0,1,0,1631,570	40	33	35		508	2.8	0.1	X	dbSNP_134	35	2,6725		0,1,1,2427,1870	no	missense	PRRG3	NM_024082.3	101	0,2,1,4058,2440	TT,TC,T,CC,C		0.0297,0.0261,0.0284	possibly-damaging	170/232	150869317	3,10558	2202	4299	6501	SO:0001583	missense	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.508C>T	X.37:g.150869317C>T	ENSP00000359378:p.Arg170Trp		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.R170W	ENST00000370353.3	37	c.508	CCDS14699.1	X	.	.	.	.	.	.	.	.	.	.	C	6.429	0.447371	0.12223	2.61E-4	2.97E-4	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98280	-4.84;-4.84	3.75	2.85	0.33270	.	0.855021	0.10316	N	0.689375	D	0.94255	0.8155	N	0.22421	0.69	0.09310	N	1	D	0.69078	0.997	B	0.43575	0.424	D	0.89565	0.3809	9	.	.	.	-15.8375	3.737	0.08514	0.2554:0.6144:0.0:0.1302	.	170	Q9BZD7	TMG3_HUMAN	W	170	ENSP00000440217:R170W;ENSP00000359378:R170W	.	R	+	1	2	PRRG3	150619973	0.000000	0.05858	0.095000	0.20976	0.090000	0.18270	0.247000	0.18179	0.905000	0.36596	0.523000	0.50628	CGG	PRRG3	-	NULL	ENSG00000130032		0.667	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	-	0	47	0	C	NM_024082		150869317	1	tier1	rs143276868	no_errors	ENST00000370353	ensembl	human	known	74_37	missense	14.06	55	9	SNP	0.005	T	T	150869317	C	T	150869317	3	4	85	1	0	0	0	0	1	0	0	0	12649	643	23	1	518	1	PRRG3	23	150869317	Missense_Mutation	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	47374227	150869317	4401243	324	22874											
ZNF185	7739	genome.wustl.edu	37	chrX	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-																															gctctacatcaggggacaccGaggaggaggaggaggaggag																										TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																																	0									,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7	0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"Zinc fingers, C2H2-type"	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	smart_Znf_LIM,pfscan_Znf_LIM	p.E162in_frame_del	ENST00000370268.4	37	c.475_477	CCDS48184.1	X																																																																																			ZNF185	-	NULL	ENSG00000147394		0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1		0	38	0	GAG	NM_007150		152087572	1	tier1		no_errors	ENST00000370270	ensembl	human	known	74_37	in_frame_del	15.22	39	7	DEL	0.026:0.052:0.078	-	-	152087572	GAG	-	152087570	7	5	85	1	0	1	0	1	0	0	0	0	17800	1059	37	0	516	0	ZNF185	23	152087570	In_Frame_Del	DEL	GAG	TCGA-L5-A8NK-01A-21D-A37C-09	1218253	152087570	3182990	325	22875											
ATP2B3	492	genome.wustl.edu	37	chrX	152815520	152815520	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctgagaaggaaggCgccctcccacgccaggtggg	8	4	14	15	2	0	1	0	1	0	1	2	3	2	2	5	4	1	0	5	4	2	0			TCGA-L5-A8NK-01A-21D-A37C-09	TCGA-L5-A8NK-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3440197d-00e0-4cbf-8332-763812ca2d0b	a7ce1ff9-9b8c-4425-b183-9d822a39913d	g.chrX:152815520C>A	ENST00000349466.2	+	11	1925	c.1599C>A	c.(1597-1599)ggC>ggA	p.G533G	ATP2B3_ENST00000370181.2_Silent_p.G519G|ATP2B3_ENST00000393842.1_Silent_p.G519G|ATP2B3_ENST00000359149.3_Silent_p.G533G|ATP2B3_ENST00000263519.4_Silent_p.G533G|ATP2B3_ENST00000370186.1_Silent_p.G519G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	533					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGGAAGGCGCCCTCCCAC	0.677																																																	0													39	30	33					X																	152815520		2202	4300	6502	SO:0001819	synonymous_variant	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1599C>A	X.37:g.152815520C>A			B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.G533	ENST00000349466.2	37	c.1599	CCDS35440.1	X																																																																																			ATP2B3	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000067842		0.677	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1		0	93	0	C	NM_021949		152815520	1			no_errors	ENST00000263519	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.261	A	A	152815520	C	A	152815520	2	1	85	1	0	0	0	0	0	0	0	1	1142	755	27	2		2	ATP2B3	23	152815520	Silent	SNP	C	TCGA-L5-A8NK-01A-21D-A37C-09	727950	152815520	2455040	326	22876											
GPR153	387509	genome.wustl.edu	37	chr1	6313985	6313985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagcgtctggaagagggcGatggctgtgcagatcacgcc	8	6	16	11	3	2	2	1	0	1	2	2	4	2	3	2	3	2	2	2	3	1	0	rs537787050		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:6313985G>A	ENST00000377893.2	-	3	838	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGAAGAGGGCGATGGCTGTGC	0.706													G|||	1	0.000199681	0	0.0014	5008	,	,		17371	0		0	False		,,,				2504	0																0													25	28	27					1																	6313985		2199	4296	6495	SO:0001819	synonymous_variant	0			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"GPCR / Class A : Orphans"	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.579C>T	1.37:g.6313985G>A			Q5TGR5|Q6AHW8|Q86SP8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162	p.I193	ENST00000377893.2	37	c.579	CCDS64.1	1																																																																																			GPR153	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162	ENSG00000158292		0.706	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	-	0	40	0	G			6313985	-1	tier1	-	no_errors	ENST00000377893	ensembl	human	known	74_37	silent	14.00	43	7	SNP	0.983	A	A	6313985	G	A	6313985	2	1	86	1	0	0	0	0	0	0	0	1	6685	1048	37	1		1	GPR153	1	6313985	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		6313985	242936636	1	22877											
ID3	3399	genome.wustl.edu	37	chr1	23885693	23885693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaggtcgagaatgtaGtcgatgacgcgctgtaggat	10	9	14	8	4	0	2	0	1	0	1	2	5	0	3	1	2	1	4	1	2	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:23885693G>C	ENST00000374561.5	-	1	592	c.225C>G	c.(223-225)gaC>gaG	p.D75E	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	75	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CGAGAATGTAGTCGATGACGC	0.627																																																	0													58	65	63					1																	23885693		2203	4300	6503	SO:0001583	missense	0			X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"Basic helix-loop-helix proteins"	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.225C>G	1.37:g.23885693G>C	ENSP00000363689:p.Asp75Glu		A8K1T8|O75641	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.D75E	ENST00000374561.5	37	c.225	CCDS237.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514307	0.85389	.	.	ENSG00000117318	ENST00000374561	D	0.97352	-4.35	5.6	4.69	0.59074	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98476	1.0603	10	0.62326	D	0.03	-16.451	13.1444	0.59452	0.0778:0.0:0.9222:0.0	.	75	Q02535	ID3_HUMAN	E	75	ENSP00000363689:D75E	ENSP00000363689:D75E	D	-	3	2	ID3	23758280	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.501000	0.53325	1.369000	0.46134	-0.218000	0.12543	GAC	ID3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000117318		0.627	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID3	HGNC	protein_coding	OTTHUMT00000008904.1	-	0	55	0	G	NM_002167		23885693	-1	tier1	-	no_errors	ENST00000374561	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	23885693	G	C	23885693	3	2	86	1	0	0	0	0	1	0	0	0	7518	1020	36	5	142	5	ID3	1	23885693	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	17571708	23885693	225364928	2	22878											
TRIM63	84676	genome.wustl.edu	37	chr1	26386784	26386784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgacgggaatcctccagCtgagtgatgatggtctgcac	9	9	12	11	2	1	3	0	3	1	0	4	5	3	4	2	2	2	2	2	2	1	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:26386784C>T	ENST00000374272.3	-	4	708	c.570G>A	c.(568-570)caG>caA	p.Q190Q	TRIM63_ENST00000483052.1_5'Flank	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	190	Interaction with TTN.				cellular response to dexamethasone stimulus (GO:0071549)|muscle contraction (GO:0006936)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression (GO:0010468)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to interleukin-1 (GO:0070555)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|titin binding (GO:0031432)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AATCCTCCAGCTGAGTGATGA	0.572																																																	0													127	117	121					1																	26386784		2203	4300	6503	SO:0001819	synonymous_variant	0			AF353673	CCDS273.1	1p34-p33	2014-09-17	2012-02-23	2004-11-17	ENSG00000158022	ENSG00000158022		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	16007	protein-coding gene	gene with protein product	"muscle-specific RING finger protein 1", "iris ring finger protein", "striated muscle RING zinc finger protein"	606131	"ring finger protein 28", "tripartite motif-containing 63", "tripartite motif containing 63"	RNF28		11243782, 11283016	Standard	NM_032588		Approved	MURF-1, IRF, SMRZ	uc001bli.2	Q969Q1	OTTHUMG00000007510	ENST00000374272.3:c.570G>A	1.37:g.26386784C>T			B4DN95|Q5T2I1|Q96BD3|Q96KD9|Q9BYV4	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q190	ENST00000374272.3	37	c.570	CCDS273.1	1																																																																																			TRIM63	-	NULL	ENSG00000158022		0.572	TRIM63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM63	HGNC	protein_coding	OTTHUMT00000019750.1	-	0	51	0	C	NM_032588		26386784	-1	tier1	-	no_errors	ENST00000374272	ensembl	human	known	74_37	silent	20.00	32	8	SNP	1.000	T	T	26386784	C	T	26386784	2	4	86	1	0	0	0	0	0	0	0	1	16586	796	28	3		3	TRIM63	1	26386784	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	2501091	26386784	222863837	3	22879											
ARID1A	8289	genome.wustl.edu	37	chr1	27087417	27087417	+	Frame_Shift_Del	DEL	C	C	-																															gagtcctggagtgagcacatCagggatttccagcagccaag																										TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:27087417delC	ENST00000324856.7	+	5	2362	c.1991delC	c.(1990-1992)tcafs	p.S664fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S664fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S281fs|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	664					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S664*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGAGCACATCAGGGATTTCC	0.517			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	ovary(1)											133	137	135					1																	27087417		2203	4300	6503	SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1991delC	1.37:g.27087417delC	ENSP00000320485:p.Ser664fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S664fs	ENST00000324856.7	37	c.1991	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.517	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0	49	0	C	NM_139135		27087417	1	tier1		no_errors	ENST00000324856	ensembl	human	known	74_37	frame_shift_del	29.17	34	14	DEL	1.000	-	-	27087417	C	-	27087417	7	5	86	1	0	1	0	1	0	0	0	0	913	838	29	0	2009	0	ARID1A	1	27087417	Frame_Shift_Del	DEL	C	TCGA-L5-A8NL-01A-12D-A37C-09	700633	27087417	222163204	4	22880											
ATPAF1	64756	genome.wustl.edu	37	chr1	47110925	47110925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcttggcagagcacataGaaactgtgaaaaacagatat	16	9	8	8	0	1	4	0	1	1	3	1	4	1	4	1	1	3	2	1	1	5	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:47110925G>C	ENST00000371937.4	-	7	696	c.592C>G	c.(592-594)Cta>Gta	p.L198V	ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000542495.1_Missense_Mutation_p.L47V|ATPAF1_ENST00000532925.1_Missense_Mutation_p.L110V|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000576409.1_Missense_Mutation_p.L221V	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	198					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					AGAGCACATAGAAACTGTGAA	0.368																																					Melanoma(138;107 1777 21672 30337 52312)												0													118	112	114					1																	47110925		2203	4300	6503	SO:0001583	missense	0			AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"Mitochondrial respiratory chain complex assembly factors"	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.592C>G	1.37:g.47110925G>C	ENSP00000361005:p.Leu198Val		B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Missense_Mutation	SNP	pfam_ATP11	p.L221V	ENST00000371937.4	37	c.661		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.382949|2.382949	0.42207|0.42207	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000534216|ENST00000371937;ENST00000492233;ENST00000542495;ENST00000532925	.|T	.|0.34275	.|1.37	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.22437|0.22437	0.0541|0.0541	N|N	0.21617|0.21617	0.685|0.685	0.58432|0.58432	D|D	0.999995|0.999995	.|P;P	.|0.42296	.|0.767;0.775	.|B;B	.|0.39660	.|0.172;0.306	T|T	0.06215|0.06215	-1.0839|-1.0839	6|10	0.87932|0.05525	D|T	0|0.97	-8.3799|-8.3799	13.2961|13.2961	0.60298|0.60298	0.072:0.0:0.928:0.0|0.072:0.0:0.928:0.0	.|.	.|110;198	.|B7Z7I6;Q5TC12	.|.;ATPF1_HUMAN	L|V	52|198;2;47;110	.|ENSP00000361005:L198V	ENSP00000432771:F52L|ENSP00000361005:L198V	F|L	-|-	3|1	2|2	ATPAF1|ATPAF1	46883512|46883512	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.800000|0.800000	0.45204|0.45204	5.849000|5.849000	0.69465|0.69465	2.747000|2.747000	0.94245|0.94245	0.650000|0.650000	0.86243|0.86243	TTC|CTA	ATPAF1	-	pfam_ATP11	ENSG00000123472		0.368	ATPAF1-201	KNOWN	basic	protein_coding	ATPAF1	HGNC	protein_coding		-	0	23	0	G	NM_022745		47110925	-1	tier1	-	no_errors	ENST00000576409	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	C	C	47110925	G	C	47110925	3	2	86	1	0	0	0	0	1	0	0	0	1201	933	33	5	406	5	ATPAF1	1	47110925	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	20023508	47110925	202139696	5	22881											
ACOT11	26027	genome.wustl.edu	37	chr1	55070051	55070051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaataacgtctcctccttGaagatgcttgtggccaagga	11	11	9	10	1	1	2	0	1	1	1	3	3	2	3	3	2	3	1	3	2	5	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:55070051G>A	ENST00000371316.3	+	12	1267	c.1185G>A	c.(1183-1185)ttG>ttA	p.L395L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.L395L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	395	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCTCCTCCTTGAAGATGCTTG	0.552																																					Ovarian(148;1440 1861 22015 32453 51933)												0													130	101	111					1																	55070051		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.1185G>A	1.37:g.55070051G>A			B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.L395	ENST00000371316.3	37	c.1185	CCDS592.1	1																																																																																			ACOT11	-	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom	ENSG00000162390		0.552	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1	-	0	60	0	G	NM_015547		55070051	1	tier1	-	no_errors	ENST00000371316	ensembl	human	known	74_37	silent	25.58	32	11	SNP	1.000	A	A	55070051	G	A	55070051	2	1	86	1	0	0	0	0	0	0	0	1	149	1281	45	3		3	ACOT11	1	55070051	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	7959126	55070051	194180570	6	22882											
PCSK9	255738	genome.wustl.edu	37	chr1	55523165	55523165	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcacagagtgggacatcAcaggctgctgcccacgtggc	8	7	14	12	1	2	1	2	0	0	1	2	2	2	2	1	3	2	2	1	3	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:55523165A>G	ENST00000302118.5	+	7	1448	c.1158A>G	c.(1156-1158)tcA>tcG	p.S386S	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.S186S	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	386	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGGGACATCACAGGCTGCTG	0.622																																					Pancreas(137;1454 1827 5886 22361 42375)												0													54	44	48					1																	55523165		2203	4300	6503	SO:0001819	synonymous_variant	0			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.1158A>G	1.37:g.55523165A>G			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.S386	ENST00000302118.5	37	c.1158	CCDS603.1	1																																																																																			PCSK9	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	ENSG00000169174		0.622	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1	-	0	41	0	A	NM_174936		55523165	1	tier1	-	no_errors	ENST00000302118	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.040	G	G	55523165	A	G	55523165	2	3	86	1	0	0	0	0	0	0	0	1	11645	146	6	4		4	PCSK9	1	55523165	Silent	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	453114	55523165	193727456	7	22883											
KANK4	163782	genome.wustl.edu	37	chr1	62732473	62732475	+	In_Frame_Del	DEL	TTC	TTC	-																															gcccggcatgcattaagaaaTtcttctgagggtttatatct																										TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:62732473_62732475delTTC	ENST00000371153.4	-	6	2626_2628	c.2248_2250delGAA	c.(2248-2250)gaadel	p.E750del	KANK4_ENST00000354381.3_In_Frame_Del_p.E122del|KANK4_ENST00000371150.1_In_Frame_Del_p.E106del	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	750						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CATTAAGAAATTCTTCTGAGGGT	0.365																																																	0																																										SO:0001651	inframe_deletion	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2248_2250delGAA	1.37:g.62732476_62732478delTTC	ENSP00000360195:p.Glu750del		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	In_Frame_Del	DEL	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E750in_frame_del	ENST00000371153.4	37	c.2250_2248	CCDS620.1	1																																																																																			KANK4	-	NULL	ENSG00000132854		0.365	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1		0	30	0	TTC	NM_181712		62732475	-1	tier1		no_errors	ENST00000371153	ensembl	human	known	74_37	in_frame_del	18.75	13	3	DEL	0.965:0.998:1.000	-	-	62732475	TTC	-	62732473	7	5	86	1	0	1	0	1	0	0	0	0	8006	1490	52	0	757	0	KANK4	1	62732473	In_Frame_Del	DEL	TTC	TCGA-L5-A8NL-01A-12D-A37C-09	7209308	62732473	186518148	8	22884											
LRRC7	57554	genome.wustl.edu	37	chr1	70226051	70226051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggagctttatctagatgCcaatcaaattgaagaactac	16	10	8	7	0	2	4	1	1	1	3	2	5	2	5	1	1	4	1	1	1	7	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:70226051C>T	ENST00000035383.5	+	1	194	c.164C>T	c.(163-165)gCc>gTc	p.A55V	LRRC7_ENST00000370958.1_Missense_Mutation_p.A93V|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000310961.5_Missense_Mutation_p.A60V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	55						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TATCTAGATGCCAATCAAATT	0.333																																																	0													78	78	78					1																	70226051		2203	4299	6502	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.164C>T	1.37:g.70226051C>T	ENSP00000035383:p.Ala55Val		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.A55V	ENST00000035383.5	37	c.164	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.249548	0.95305	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.52754	1.85;0.65;1.84	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.46521	0.1397	N	0.14661	0.345	0.80722	D	1	D;D	0.76494	0.981;0.999	D;D	0.91635	0.913;0.999	T	0.55023	-0.8205	10	0.59425	D	0.04	.	18.5004	0.90879	0.0:1.0:0.0:0.0	.	55;93	Q96NW7;B1AKT2	LRRC7_HUMAN;.	V	60;93;55;55	ENSP00000309245:A60V;ENSP00000359997:A93V;ENSP00000035383:A55V	ENSP00000035383:A55V	A	+	2	0	LRRC7	69998639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.721000	0.93114	0.585000	0.79938	GCC	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.333	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	49	0	C	NM_020794		70226051	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	70226051	C	T	70226051	3	4	86	1	0	0	0	0	1	0	0	0	9055	739	26	3	166	3	LRRC7	1	70226051	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	7493578	70226051	179024570	9	22885											
RPAP2	79871	genome.wustl.edu	37	chr1	92846361	92846361	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagacaccctccttgaagAattacatctaaaaaatgaag	17	10	5	9	0	2	4	0	2	2	2	3	4	3	4	2	0	1	0	2	0	8	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:92846361A>T	ENST00000610020.1	+	12	1878	c.1769A>T	c.(1768-1770)gAa>gTa	p.E590V		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	590					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTCCTTGAAGAATTACATCTA	0.363																																																	0													127	127	127					1																	92846361		2203	4300	6503	SO:0001583	missense	0			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"chromosome 1 open reading frame 82"	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1769A>T	1.37:g.92846361A>T	ENSP00000476948:p.Glu590Val		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.E590V	ENST00000610020.1	37	c.1769	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	A	15.85	2.955759	0.53293	.	.	ENSG00000122484	ENST00000370343	.	.	.	5.74	5.74	0.90152	.	0.049897	0.85682	D	0.000000	T	0.58133	0.2101	L	0.32530	0.975	0.33541	D	0.594888	D	0.89917	1.0	D	0.85130	0.997	T	0.66512	-0.5905	8	0.72032	D	0.01	-12.758	13.5778	0.61885	1.0:0.0:0.0:0.0	.	590	Q8IXW5	RPAP2_HUMAN	V	590	.	ENSP00000359368:E590V	E	+	2	0	RPAP2	92618949	1.000000	0.71417	0.998000	0.56505	0.564000	0.35744	5.137000	0.64789	2.191000	0.70037	0.528000	0.53228	GAA	RPAP2	-	NULL	ENSG00000122484		0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	-	0	83	0	A	NM_024813		92846361	1	tier1	-	no_errors	ENST00000610020	ensembl	human	known	74_37	missense	18.31	58	13	SNP	1.000	T	T	92846361	A	T	92846361	3	4	86	1	0	0	0	0	1	0	0	0	13587	246	9	5	1815	5	RPAP2	1	92846361	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	22620310	92846361	156404260	10	22886											
SPAG17	200162	genome.wustl.edu	37	chr1	118624196	118624196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccctttttcatcaaccTcagagagcttcaggctctca	8	14	6	13	0	5	1	5	0	1	1	7	2	6	1	2	1	2	3	2	1	1	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:118624196T>A	ENST00000336338.5	-	14	1897	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	611						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCATCAACCTCAGAGAGCTT	0.448																																																	0													137	129	132					1																	118624196		2203	4300	6503	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.1832A>T	1.37:g.118624196T>A	ENSP00000337804:p.Glu611Val		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E611V	ENST00000336338.5	37	c.1832	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231707	0.39399	.	.	ENSG00000155761	ENST00000336338	T	0.19250	2.16	5.34	2.83	0.33086	.	0.796041	0.12231	N	0.487469	T	0.10165	0.0249	M	0.61703	1.905	0.24732	N	0.993081	P	0.45827	0.867	B	0.43103	0.408	T	0.13926	-1.0491	10	0.41790	T	0.15	.	5.5885	0.17287	0.0:0.1204:0.3:0.5796	.	611	Q6Q759	SPG17_HUMAN	V	611	ENSP00000337804:E611V	ENSP00000337804:E611V	E	-	2	0	SPAG17	118425719	0.762000	0.28451	1.000000	0.80357	0.969000	0.65631	0.499000	0.22546	0.964000	0.38108	0.482000	0.46254	GAG	SPAG17	-	NULL	ENSG00000155761		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1		0	46	0	T	NM_206996		118624196	-1			no_errors	ENST00000336338	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.947	A	A	118624196	T	A	118624196	3	1	86	1	0	0	0	0	1	0	0	0	15026	1551	54	5	4979	5	SPAG17	1	118624196	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	25777835	118624196	130626425	11	22887											
HIST2H2AC	8338	genome.wustl.edu	37	chr1	149858858	149858858	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcggcgttttgcctaacAtccaggccgttctgttacca	7	11	11	12	3	1	0	0	0	1	0	2	0	2	0	4	3	3	3	4	3	2	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:149858858A>T	ENST00000331380.2	+	1	334	c.334A>T	c.(334-336)Atc>Ttc	p.I112F	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	112						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTTGCCTAACATCCAGGCCGT	0.512																																																	0													86	86	86					1																	149858858		2203	4300	6503	SO:0001583	missense	0			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"Histones / Replication-dependent"	4738	protein-coding gene	gene with protein product		602797	"H2A histone family, member Q", "histone 2, H2ac"	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.334A>T	1.37:g.149858858A>T	ENSP00000332194:p.Ile112Phe		Q6DRA7|Q8IUE5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.I112F	ENST00000331380.2	37	c.334	CCDS937.1	1	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791520	0.50102	.	.	ENSG00000184260	ENST00000331380	T	0.47528	0.84	5.56	5.56	0.83823	Histone-fold (2);Histone H2A (2);	0.000000	0.45126	D	0.000392	T	0.55673	0.1935	H	0.97131	3.945	0.54753	D	0.999981	B	0.28820	0.224	B	0.31245	0.126	T	0.67910	-0.5548	10	0.87932	D	0	.	14.6135	0.68531	1.0:0.0:0.0:0.0	.	112	Q16777	H2A2C_HUMAN	F	112	ENSP00000332194:I112F	ENSP00000332194:I112F	I	+	1	0	HIST2H2AC	148125482	1.000000	0.71417	0.998000	0.56505	0.539000	0.34962	8.976000	0.93442	2.140000	0.66376	0.491000	0.48974	ATC	HIST2H2AC	-	superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184260		0.512	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AC	HGNC	protein_coding	OTTHUMT00000087128.1	-	0	134	0	A	NM_003517		149858858	1	tier1	-	no_errors	ENST00000331380	ensembl	human	known	74_37	missense	20.34	94	24	SNP	1.000	T	T	149858858	A	T	149858858	3	4	86	1	0	0	0	0	1	0	0	0	7205	217	8	5	336	5	HIST2H2AC	1	149858858	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	31234662	149858858	99391763	12	22888											
SELENBP1	8991	genome.wustl.edu	37	chr1	151338125	151338125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgaagtagaggaagcGgtcgtccagggagagcagga	11	6	18	6	2	0	3	0	1	0	2	2	6	1	5	1	4	3	4	1	4	3	2	rs369459403		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:151338125G>A	ENST00000368868.5	-	9	1049	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	SELENBP1_ENST00000435071.1_Missense_Mutation_p.R256C|SELENBP1_ENST00000426705.2_Missense_Mutation_p.R362C|SELENBP1_ENST00000447402.3_Missense_Mutation_p.R258C|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	320					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGAGGAAGCGGTCGTCCAGG	0.587																																																	0													124	134	131					1																	151338125		2203	4300	6503	SO:0001583	missense	0			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.958C>T	1.37:g.151338125G>A	ENSP00000357861:p.Arg320Cys		A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	pfam_Se-bd	p.R362C	ENST00000368868.5	37	c.1084	CCDS995.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267972	0.80469	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	T;T;T	0.33865	1.39;1.39;1.39	5.44	5.44	0.79542	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.93978	3.48	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.85130	0.91;0.997;0.988;0.935;0.993	T	0.73304	-0.4025	10	0.87932	D	0	-17.5809	13.6725	0.62434	0.0:0.0:0.8449:0.1551	.	258;280;173;256;320	B4E1F3;A6PVW8;B4DPI7;Q13228-2;Q13228	.;.;.;.;SBP1_HUMAN	C	320;258;256	ENSP00000357861:R320C;ENSP00000413960:R258C;ENSP00000408263:R256C	ENSP00000357861:R320C	R	-	1	0	SELENBP1	149604749	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.765000	0.62271	2.557000	0.86248	0.655000	0.94253	CGC	SELENBP1	-	pfam_Se-bd	ENSG00000143416		0.587	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELENBP1	HGNC	protein_coding	OTTHUMT00000034904.4	-	0	43	0	G			151338125	-1	tier1	-	no_errors	ENST00000426705	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	A	A	151338125	G	A	151338125	3	1	86	1	0	0	0	0	1	0	0	0	14059	1116	39	1	476	1	SELENBP1	1	151338125	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	1479267	151338125	97912496	13	22889											
ATP8B2	57198	genome.wustl.edu	37	chr1	154307045	154307045	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaacgagtatcgatcgccTaatgaataccctggtgctct	12	10	9	10	3	1	2	0	1	1	1	3	4	1	2	2	1	3	2	2	1	6	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:154307045T>G	ENST00000368489.3	+	11	914	c.914T>G	c.(913-915)cTa>cGa	p.L305R	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.L272R|ATP8B2_ENST00000341822.2_Missense_Mutation_p.L291R	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	291					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCGATCGCCTAATGAATACC	0.527																																																	0													88	82	84					1																	154307045		2203	4300	6503	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"ATPases / P-type"	13534	protein-coding gene	gene with protein product		605867	"ATPase, class I, type 8B, member 2"			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.914T>G	1.37:g.154307045T>G	ENSP00000357475:p.Leu305Arg		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L305R	ENST00000368489.3	37	c.914	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261173	0.80246	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.90261	-2.64;-1.08;-1.08	4.86	4.86	0.63082	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000017	D	0.92655	0.7666	L	0.60455	1.87	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.85130	0.995;0.997;0.965	D	0.93740	0.7049	10	0.87932	D	0	.	13.4382	0.61096	0.0:0.0:0.0:1.0	.	291;305;272	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	R	272;305;291	ENSP00000357472:L272R;ENSP00000357475:L305R;ENSP00000340448:L291R	ENSP00000340448:L291R	L	+	2	0	ATP8B2	152573669	1.000000	0.71417	0.920000	0.36463	0.936000	0.57629	7.868000	0.87116	2.043000	0.60533	0.482000	0.46254	CTA	ATP8B2	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000143515		0.527	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	-	0	25	0	T	NM_020452		154307045	1	tier1	-	no_errors	ENST00000368489	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.997	G	G	154307045	T	G	154307045	3	3	86	1	0	0	0	0	1	0	0	0	1196	1522	53	4	956	4	ATP8B2	1	154307045	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	2968920	154307045	94943576	14	22890											
METTL13	51603	genome.wustl.edu	37	chr1	171753485	171753485	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcgacagcagtatgcCtggctgtgcagccagctgcg	8	6	15	12	2	0	0	0	0	0	0	0	2	0	1	2	2	7	5	2	2	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:171753485C>G	ENST00000361735.3	+	2	1025	c.759C>G	c.(757-759)gcC>gcG	p.A253A	METTL13_ENST00000458517.1_Silent_p.A252A|METTL13_ENST00000367737.5_Intron|METTL13_ENST00000362019.3_Silent_p.A167A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	253							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGCAGTATGCCTGGCTGTGCA	0.662																																																	0													27	27	27					1																	171753485		2202	4299	6501	SO:0001819	synonymous_variant	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"KIAA0859"	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.759C>G	1.37:g.171753485C>G			A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Silent	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.A253	ENST00000361735.3	37	c.759	CCDS1299.1	1																																																																																			METTL13	-	NULL	ENSG00000010165		0.662	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	-	0	44	0	C	NM_014955		171753485	1	tier1	-	no_errors	ENST00000361735	ensembl	human	known	74_37	silent	26.09	34	12	SNP	1.000	G	G	171753485	C	G	171753485	2	3	86	1	0	0	0	0	0	0	0	1	9535	668	24	5		5	METTL13	1	171753485	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	17446440	171753485	77497136	15	22891											
FAM5B	57795	genome.wustl.edu	37	chr1	177250184	177250184	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggatgcagctgcccagtgCcaaaactggactatcacctt	10	9	10	12	0	1	0	1	0	0	0	1	2	1	2	3	2	5	2	3	2	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:177250184C>A	ENST00000361539.4	+	8	2184	c.1872C>A	c.(1870-1872)tgC>tgA	p.C624*	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	624					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CTGCCCAGTGCCAAAACTGGA	0.527																																																	0													70	69	69					1																	177250184		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1872C>A	1.37:g.177250184C>A	ENSP00000354481:p.Cys624*		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Nonsense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.C624*	ENST00000361539.4	37	c.1872	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.542487	0.98348	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.9836	18.4386	0.90656	0.0:1.0:0.0:0.0	.	.	.	.	X	377;624	.	ENSP00000354481:C624X	C	+	3	2	FAM5B	175516807	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.689000	0.54706	2.443000	0.82685	0.313000	0.20887	TGC	BRINP2	-	NULL	ENSG00000198797		0.527	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	HGNC	protein_coding	OTTHUMT00000084599.1	-	0	46	0	C	NM_021165		177250184	1	tier1	-	no_errors	ENST00000361539	ensembl	human	known	74_37	nonsense	34.29	23	12	SNP	1.000	A	A	177250184	C	A	177250184	4	1	86	1	0	0	0	0	0	1	0	0	5615	747	26	3	1898	3	FAM5B	1	177250184	Nonsense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	5496699	177250184	72000437	16	22892											
RASAL2	9462	genome.wustl.edu	37	chr1	178269224	178269224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgagggtcagtttcccgAgtacccaccagagggcgcca	8	7	12	14	3	1	1	1	0	0	1	3	3	3	1	5	2	1	2	5	2	1	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:178269224A>G	ENST00000367649.3	+	3	780	c.428A>G	c.(427-429)gAg>gGg	p.E143G	RASAL2_ENST00000448150.3_Missense_Mutation_p.E125G			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGTTTCCCGAGTACCCACCA	0.478											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67	69	68					1																	178269224		2203	4300	6503	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.428A>G	1.37:g.178269224A>G	ENSP00000356621:p.Glu143Gly	1945	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E143G	ENST00000367649.3	37	c.428	CCDS1321.2	1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495391	0.64186	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	T;T	0.23348	1.95;1.91	5.61	5.61	0.85477	.	0.186754	0.43416	D	0.000577	T	0.15739	0.0379	N	0.14661	0.345	0.44469	D	0.9974	P	0.37330	0.59	B	0.30646	0.118	T	0.05818	-1.0862	10	0.56958	D	0.05	.	15.0834	0.72133	1.0:0.0:0.0:0.0	.	143	F8W755	.	G	125;143	ENSP00000407768:E125G;ENSP00000356621:E143G	ENSP00000356621:E143G	E	+	2	0	RASAL2	176535847	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.629000	0.74267	2.254000	0.74563	0.533000	0.62120	GAG	RASAL2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000075391		0.478	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000352415.1	-	0	57	0	A	NM_170692		178269224	1	tier1	-	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.999	G	G	178269224	A	G	178269224	3	3	86	1	0	0	0	0	1	0	0	0	13109	304	11	4	438	4	RASAL2	1	178269224	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	1019040	178269224	70981397	17	22893											
KIAA1614	57710	genome.wustl.edu	37	chr1	180914462	180914462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagacttcaccacggcGtgccctcagtgtggaggacg	8	6	14	13	3	2	1	2	0	0	1	2	3	2	3	3	4	1	0	3	4	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:180914462G>A	ENST00000367588.4	+	9	3366	c.3311G>A	c.(3310-3312)cGt>cAt	p.R1104H	KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000367587.1_Missense_Mutation_p.R725H	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1104										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCACCACGGCGTGCCCTCAGT	0.647																																																	0													52	58	56					1																	180914462		2077	4189	6266	SO:0001583	missense	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3311G>A	1.37:g.180914462G>A	ENSP00000356560:p.Arg1104His		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	NULL	p.R1104H	ENST00000367588.4	37	c.3311	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408240	0.62399	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.29655	2.14;1.56	4.91	3.0	0.34707	.	0.410312	0.25683	N	0.028997	T	0.23649	0.0572	L	0.48642	1.525	0.37966	D	0.933112	B;P	0.50272	0.417;0.933	B;B	0.40009	0.105;0.316	T	0.35276	-0.9795	9	0.39692	T	0.17	-7.4577	8.3925	0.32537	0.1406:0.1309:0.7285:0.0	.	725;1104	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	H	1104;725	ENSP00000356560:R1104H;ENSP00000356559:R725H	ENSP00000356559:R725H	R	+	2	0	KIAA1614	179181085	1.000000	0.71417	0.591000	0.28745	0.723000	0.41478	3.315000	0.51951	1.060000	0.40578	0.655000	0.94253	CGT	KIAA1614	-	NULL	ENSG00000135835		0.647	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	-	0	52	0	G	XM_046531		180914462	1	tier1	-	no_errors	ENST00000367588	ensembl	human	known	74_37	missense	23.91	35	11	SNP	0.917	A	A	180914462	G	A	180914462	3	1	86	1	0	0	0	0	1	0	0	0	8275	1145	40	1	3345	1	KIAA1614	1	180914462	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	2645238	180914462	68336159	18	22894											
NMNAT2	23057	genome.wustl.edu	37	chr1	183221791	183221791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctagccggaggcattGatgtacagctggcttttgag	7	11	15	8	1	0	2	0	2	0	0	0	3	0	3	1	4	4	6	1	4	2	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:183221791G>T	ENST00000287713.6	-	11	1243	c.909C>A	c.(907-909)atC>atA	p.I303I	NMNAT2_ENST00000294868.4_Silent_p.I298I	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	303					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CGGAGGCATTGATGTACAGCT	0.577																																																	0													206	173	184					1																	183221791		2203	4300	6503	SO:0001819	synonymous_variant	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.909C>A	1.37:g.183221791G>T			O75067|Q5T1Q3|Q8WU99|Q96QW1	Silent	SNP	pfam_Cyt_trans-like	p.I303	ENST00000287713.6	37	c.909	CCDS1353.1	1																																																																																			NMNAT2	-	NULL	ENSG00000157064		0.577	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1	-	0	69	0	G			183221791	-1	tier1	-	no_errors	ENST00000287713	ensembl	human	known	74_37	silent	5.80	64	4	SNP	1.000	T	T	183221791	G	T	183221791	2	4	86	1	0	0	0	0	0	0	0	1	10538	1280	45	3		3	NMNAT2	1	183221791	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	2307329	183221791	66028830	19	22895											
NMNAT2	23057	genome.wustl.edu	37	chr1	183387334	183387334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaccaaacatctgaatgtgCcctttggtgatgggattgaa	11	12	10	8	0	2	3	1	3	1	0	2	4	2	4	2	2	2	0	2	2	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:183387334C>T	ENST00000287713.6	-	1	403	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	23					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TCTGAATGTGCCCTTTGGTGA	0.597																																																	0													248	207	221					1																	183387334		2203	4300	6503	SO:0001819	synonymous_variant	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.69G>A	1.37:g.183387334C>T			O75067|Q5T1Q3|Q8WU99|Q96QW1	Silent	SNP	pfam_Cyt_trans-like	p.G23	ENST00000287713.6	37	c.69	CCDS1353.1	1																																																																																			NMNAT2	-	pfam_Cyt_trans-like	ENSG00000157064		0.597	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1	-	0	44	0	C			183387334	-1	tier1	-	no_errors	ENST00000287713	ensembl	human	known	74_37	silent	17.78	37	8	SNP	0.999	T	T	183387334	C	T	183387334	2	4	86	1	0	0	0	0	0	0	0	1	10538	726	26	3		3	NMNAT2	1	183387334	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	165543	183387334	65863287	20	22896											
PLXNA2	5362	genome.wustl.edu	37	chr1	208217905	208217905	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgtccatctgcatttgCagccgcttgagagtgaggtc	8	12	12	9	1	1	3	0	2	1	2	3	4	2	3	2	1	3	3	2	1	0	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:208217905C>T	ENST00000367033.3	-	20	4579	c.3822G>A	c.(3820-3822)ctG>ctA	p.L1274L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1274					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGCATTTGCAGCCGCTTGA	0.562																																																	0													109	86	93					1																	208217905		2203	4300	6503	SO:0001819	synonymous_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3822G>A	1.37:g.208217905C>T			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1274	ENST00000367033.3	37	c.3822	CCDS31013.1	1																																																																																			PLXNA2	-	NULL	ENSG00000076356		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	46	0	C	NM_025179		208217905	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	silent	10.53	34	4	SNP	0.988	T	T	208217905	C	T	208217905	2	4	86	1	0	0	0	0	0	0	0	1	12159	697	25	3		3	PLXNA2	1	208217905	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	24830571	208217905	41032716	21	22897											
LYST	1130	genome.wustl.edu	37	chr1	235976294	235976294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccttttcttcttggacaGgtatcttccataccagtgga	7	16	8	10	0	3	0	0	0	3	0	4	2	4	2	3	3	2	1	3	3	2	8			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:235976294G>A	ENST00000389794.3	-	4	434	c.260C>T	c.(259-261)cCt>cTt	p.P87L	LYST_ENST00000389793.2_Missense_Mutation_p.P87L|LYST_ENST00000536965.1_Missense_Mutation_p.P87L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	87					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.P87L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTGGACAGGTATCTTCCA	0.373																																																	1	Substitution - Missense(1)	lung(1)											91	87	88					1																	235976294		2203	4300	6503	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"WD repeat domain containing"	1968	protein-coding gene	gene with protein product		606897	"Chediak-Higashi syndrome 1"	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.260C>T	1.37:g.235976294G>A	ENSP00000374444:p.Pro87Leu		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P87L	ENST00000389794.3	37	c.260	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821772	0.90873	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	D;D;T	0.84516	-1.86;-1.86;0.24	5.63	5.63	0.86233	.	0.099762	0.64402	D	0.000001	D	0.91774	0.7398	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91462	0.5190	10	0.62326	D	0.03	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	87;87	Q99698-3;Q99698	.;LYST_HUMAN	L	87	ENSP00000374444:P87L;ENSP00000374443:P87L;ENSP00000438315:P87L	ENSP00000374443:P87L	P	-	2	0	LYST	234042917	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.375000	0.97178	2.826000	0.97356	0.655000	0.94253	CCT	LYST	-	NULL	ENSG00000143669		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5		0	39	0	G			235976294	-1			no_errors	ENST00000389793	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A	A	235976294	G	A	235976294	3	1	86	1	0	0	0	0	1	0	0	0	9164	1000	35	3	11345	3	LYST	1	235976294	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	27758389	235976294	13274327	22	22898											
ZNF695	57116	genome.wustl.edu	37	chr1	247150387	247150387	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatgtttagaaaggtgtGagctctggccaaaggctttg	9	14	12	6	0	2	2	0	1	2	1	2	2	2	2	1	3	1	3	1	3	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr1:247150387G>T	ENST00000339986.7	-	4	1577	c.1430C>A	c.(1429-1431)tCa>tAa	p.S477*	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	477					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGAAAGGTGTGAGCTCTGGCC	0.393																																																	0													96	101	100					1																	247150387		2103	4251	6354	SO:0001587	stop_gained	0				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1430C>A	1.37:g.247150387G>T	ENSP00000341236:p.Ser477*		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S477*	ENST00000339986.7	37	c.1430	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626794	0.87560	.	.	ENSG00000197472	ENST00000339986	.	.	.	0.642	0.642	0.17765	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0678	0.25161	1.0E-4:0.0:0.9999:0.0	.	.	.	.	X	477	.	ENSP00000341236:S477X	S	-	2	0	ZNF695	245217010	0.000000	0.05858	0.003000	0.11579	0.588000	0.36517	0.579000	0.23788	0.638000	0.30545	0.205000	0.17691	TCA	ZNF695	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197472		0.393	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	-	0	68	0	G	NM_020394		247150387	-1	tier1	-	no_errors	ENST00000339986	ensembl	human	known	74_37	nonsense	7.04	66	5	SNP	0.011	T	T	247150387	G	T	247150387	4	4	86	1	0	0	0	0	0	1	0	0	18146	1294	45	3	121	3	ZNF695	1	247150387	Nonsense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	11174093	247150387	2100234	23	22899											
GREB1	9687	genome.wustl.edu	37	chr2	11758761	11758761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttgaccaaggcctgcCgccagccacccattgtcttc	6	9	8	18	1	1	1	0	1	1	0	3	1	2	1	7	1	2	1	7	1	1	3	rs368329579		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:11758761C>T	ENST00000381486.2	+	22	4060	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	GREB1_ENST00000234142.5_Missense_Mutation_p.R1254C|GREB1_ENST00000396123.1_Missense_Mutation_p.R252C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1254						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAAGGCCTGCCGCCAGCCACC	0.672																																					Ovarian(39;850 945 2785 23371 33093)												0								C	CYS/ARG	0,4306		0,0,2153	28	32	31		3760	2.6	0.7	2		31	1,8489		0,1,4244	no	missense	GREB1	NM_014668.3	180	0,1,6397	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	1254/1950	11758761	1,12795	2153	4245	6398	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3760C>T	2.37:g.11758761C>T	ENSP00000370896:p.Arg1254Cys		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1254C	ENST00000381486.2	37	c.3760	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	11.16	1.557381	0.27827	0.0	1.18E-4	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.24350	3.18;3.18;1.86	4.65	2.57	0.30868	.	0.511140	0.21884	N	0.067688	T	0.20251	0.0487	L	0.34521	1.04	0.09310	N	0.999998	P	0.51653	0.947	P	0.44990	0.466	T	0.07233	-1.0783	10	0.56958	D	0.05	-60.0247	7.3683	0.26787	0.3947:0.5083:0.0:0.097	.	1254	Q4ZG55	GREB1_HUMAN	C	1254;1254;252	ENSP00000370896:R1254C;ENSP00000234142:R1254C;ENSP00000379429:R252C	ENSP00000234142:R1254C	R	+	1	0	GREB1	11676212	0.861000	0.29849	0.658000	0.29665	0.046000	0.14306	1.621000	0.36986	0.379000	0.24794	-0.277000	0.10078	CGC	GREB1	-	NULL	ENSG00000196208		0.672	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	86	0	C	NM_014668		11758761	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	13.64	57	9	SNP	0.001	T	T	11758761	C	T	11758761	3	4	86	1	0	0	0	0	1	0	0	0	6787	652	23	1	3950	1	GREB1	2	11758761	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09		11758761	231440612	24	22900											
RAD51AP2	729475	genome.wustl.edu	37	chr2	17697366	17697366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtcaaagttactgatctTattatgtccctgttttcttt	9	19	5	8	0	3	1	1	1	2	0	4	1	4	1	1	0	1	2	1	0	4	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:17697366T>C	ENST00000399080.2	-	1	2340	c.2317A>G	c.(2317-2319)Aag>Gag	p.K773E		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	773										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTACTGATCTTATTATGTCCC	0.338																																																	0													106	99	101					2																	17697366		1857	4105	5962	SO:0001583	missense	0			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2317A>G	2.37:g.17697366T>C	ENSP00000382030:p.Lys773Glu			Missense_Mutation	SNP	NULL	p.K773E	ENST00000399080.2	37	c.2317	CCDS42656.1	2	.	.	.	.	.	.	.	.	.	.	T	5.352	0.250193	0.10130	.	.	ENSG00000214842	ENST00000399080	T	0.24723	1.84	4.49	2.0	0.26442	.	.	.	.	.	T	0.13415	0.0325	L	0.27053	0.805	0.09310	N	1	B	0.27882	0.192	B	0.23018	0.043	T	0.33343	-0.9872	9	0.11794	T	0.64	0.7246	5.2362	0.15448	0.0:0.1811:0.2468:0.572	.	773	Q09MP3	R51A2_HUMAN	E	773	ENSP00000382030:K773E	ENSP00000382030:K773E	K	-	1	0	RAD51AP2	17560847	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.160000	0.16462	0.295000	0.22570	0.533000	0.62120	AAG	RAD51AP2	-	NULL	ENSG00000214842		0.338	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3	-	0	68	0	T	NM_001099218		17697366	-1	tier1	-	no_errors	ENST00000399080	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.000	C	C	17697366	T	C	17697366	3	2	86	1	0	0	0	0	1	0	0	0	13032	1763	61	4	1174	4	RAD51AP2	2	17697366	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	5938605	17697366	225502007	25	22901											
APOB	338	genome.wustl.edu	37	chr2	21239325	21239325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccttaggtggcccatGagggcgacctcagtaatttt	8	13	10	10	1	1	1	1	1	0	0	1	2	1	1	3	3	1	1	3	3	3	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:21239325G>T	ENST00000233242.1	-	21	3445	c.3318C>A	c.(3316-3318)ctC>ctA	p.L1106L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1106					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L1106L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGCCCATGAGGGCGACCT	0.478																																																	1	Substitution - coding silent(1)	endometrium(1)											77	75	76					2																	21239325		2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3318C>A	2.37:g.21239325G>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L1106	ENST00000233242.1	37	c.3318	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0	31	0	G			21239325	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.043	T	T	21239325	G	T	21239325	2	4	86	1	0	0	0	0	0	0	0	1	785	1277	45	3		3	APOB	2	21239325	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	3541959	21239325	221960048	26	22902											
KLRAQ1	129285	genome.wustl.edu	37	chr2	48737157	48737157	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctgattttacagtgcCgagcactgtctaaaagactg	10	14	9	8	1	2	2	0	1	2	1	2	3	2	2	1	0	3	2	1	0	3	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:48737157C>T	ENST00000294952.8	+	20	2246	c.2089C>T	c.(2089-2091)Cga>Tga	p.R697*	PPP1R21_ENST00000476199.1_3'UTR|PPP1R21_ENST00000449090.2_Nonsense_Mutation_p.R655*|PPP1R21_ENST00000281394.4_Nonsense_Mutation_p.R686*	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	697						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TTTACAGTGCCGAGCACTGTC	0.408																																																	0													62	61	61					2																	48737157		2203	4300	6503	SO:0001587	stop_gained	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.2089C>T	2.37:g.48737157C>T	ENSP00000294952:p.Arg697*		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Nonsense_Mutation	SNP	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.R697*	ENST00000294952.8	37	c.2089	CCDS46278.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.727864	0.98456	.	.	ENSG00000162869	ENST00000281394;ENST00000294952;ENST00000449090	.	.	.	5.56	3.71	0.42584	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-8.2918	14.5875	0.68339	0.2667:0.7333:0.0:0.0	.	.	.	.	X	686;697;655	.	ENSP00000281394:R686X	R	+	1	2	KLRAQ1	48590661	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.960000	0.70348	0.665000	0.31066	-0.169000	0.13324	CGA	PPP1R21	-	pfam_KLRAQ/TTKRSYEDQ_C	ENSG00000162869		0.408	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	-	0	32	0	C	NM_152994		48737157	1	tier1	-	no_errors	ENST00000294952	ensembl	human	known	74_37	nonsense	14.71	29	5	SNP	1.000	T	T	48737157	C	T	48737157	4	4	86	1	0	0	0	0	0	1	0	0	8440	644	23	1	2167	1	KLRAQ1	2	48737157	Nonsense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	27497832	48737157	194462216	27	22903											
XPO1	7514	genome.wustl.edu	37	chr2	61726050	61726051	+	Splice_Site	INS	-	-	A																															gagaattcattgcacatgctINSaaaaaaaaaaacacacaaaa																								rs372688892		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:61726050_61726051insA	ENST00000401558.2	-	8	1318		c.e8-2		XPO1_ENST00000406957.1_Splice_Site|XPO1_ENST00000404992.2_Splice_Site	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1						gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGCACATGCTAAAAAAAAAAA	0.262			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"exportin 1 (CRM1 homolog, yeast)"		L	0																																										SO:0001630	splice_region_variant	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"Exportins"	12825	protein-coding gene	gene with protein product	"chromosome region maintenance 1 homolog (yeast)"	602559	"exportin 1 (CRM1, yeast, homolog)", "exportin 1 (CRM1 homolog, yeast)"			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.591-2->T	2.37:g.61726061_61726061dupA			A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Splice_Site	INS	-	e7-2	ENST00000401558.2	37	c.591-3_591-2	CCDS33205.1	2																																																																																			XPO1	-	-	ENSG00000082898		0.262	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3		0	17	0	-	NM_003400	Intron	61726051	-1	tier1		no_errors	ENST00000401558	ensembl	human	known	74_37	splice_site_ins	15.79	16	3	INS	1.000:0.996	A	A	61726051	-	A	61726050	8	5	86	1	0	1	1	0	0	0	1	0	17494	1536	53	0	2698	0	XPO1	2	61726050	Splice_Site	INS	-	TCGA-L5-A8NL-01A-12D-A37C-09	12988893	61726050	181473323	28	22904											
PROKR1	10887	genome.wustl.edu	37	chr2	68882627	68882627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcttcttacaatggCggtaagtccagtgcagacct	10	10	12	9	1	1	1	0	0	1	1	2	2	2	2	2	4	2	3	2	4	4	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:68882627C>T	ENST00000303786.3	+	3	1521	c.1101C>T	c.(1099-1101)ggC>ggT	p.G367G	PROKR1_ENST00000394342.2_Silent_p.G367G			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	367					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTACAATGGCGGTAAGTCCA	0.493																																																	0													83	74	77					2																	68882627		2203	4300	6503	SO:0001819	synonymous_variant	0			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"GPCR / Class A : Prokineticin receptors"	4524	protein-coding gene	gene with protein product		607122	"G protein-coupled receptor 73"	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.1101C>T	2.37:g.68882627C>T			A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.G367	ENST00000303786.3	37	c.1101	CCDS1889.1	2																																																																																			PROKR1	-	NULL	ENSG00000169618		0.493	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	HGNC	protein_coding	OTTHUMT00000251760.2		0	25	0	C			68882627	1			no_errors	ENST00000303786	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.014	T	T	68882627	C	T	68882627	2	4	86	1	0	0	0	0	0	0	0	1	12594	755	27	1		1	PROKR1	2	68882627	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	7156577	68882627	174316746	29	22905											
RPL31	6160	genome.wustl.edu	37	chr2	101622446	101622446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccataccgaatccgtgtgCggctgtccagaaaacgtaat	11	9	10	11	4	0	1	0	0	0	1	2	2	2	1	4	1	4	2	4	1	5	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:101622446C>T	ENST00000264258.3	+	4	860	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RPL31_ENST00000409320.3_Missense_Mutation_p.R87W|RPL31_ENST00000409038.1_Missense_Mutation_p.R87W|RPL31_ENST00000409650.1_Missense_Mutation_p.R87W|RPL31_ENST00000409028.4_Missense_Mutation_p.R87W|RPL31_ENST00000409733.1_Missense_Mutation_p.R87W|RPL31_ENST00000409711.1_3'UTR	NM_000993.4	NP_000984.1	P62899	RL31_HUMAN	ribosomal protein L31	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3)	8						AATCCGTGTGCGGCTGTCCAG	0.393																																																	0													64	62	63					2																	101622446		2203	4300	6503	SO:0001583	missense	0			X15940	CCDS2049.1, CCDS46373.1, CCDS46374.1	2q11.2	2011-04-06			ENSG00000071082	ENSG00000071082		"L ribosomal proteins"	10334	protein-coding gene	gene with protein product						2780320, 11875025	Standard	NM_000993		Approved	L31	uc010fiu.1	P62899	OTTHUMG00000130687	ENST00000264258.3:c.259C>T	2.37:g.101622446C>T	ENSP00000264258:p.Arg87Trp		B7Z4K2|D3DVJ4|P12947|Q53SQ5|Q6IRZ0|Q6LBJ6	Missense_Mutation	SNP	pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom	p.R87W	ENST00000264258.3	37	c.259	CCDS2049.1	2	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320864	0.60634	.	.	ENSG00000071082	ENST00000264258;ENST00000409028;ENST00000409320;ENST00000409733;ENST00000409650;ENST00000409038;ENST00000456292	.	.	.	5.14	4.24	0.50183	Ribosomal protein L31e domain (2);	0.000000	0.85682	U	0.000000	D	0.85531	0.5718	M	0.93462	3.42	0.80722	D	1	B;D;B;B;B	0.89917	0.078;1.0;0.438;0.036;0.016	B;D;B;B;B	0.83275	0.055;0.996;0.138;0.055;0.007	D	0.88661	0.3189	9	0.52906	T	0.07	.	14.5898	0.68356	0.1581:0.8418:0.0:0.0	.	87;87;87;87;87	B7Z4E3;B7Z4C8;B7Z4K2;Q6IRZ0;P62899	.;.;.;.;RL31_HUMAN	W	87	.	ENSP00000264258:R87W	R	+	1	2	RPL31	100988878	1.000000	0.71417	0.944000	0.38274	0.977000	0.68977	5.763000	0.68818	1.321000	0.45227	0.563000	0.77884	CGG	RPL31	-	pfam_Ribosomal_L31e,superfamily_Ribosomal_L31e_dom	ENSG00000071082		0.393	RPL31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPL31	HGNC	protein_coding	OTTHUMT00000253182.3	-	0	35	0	C	NM_001098577		101622446	1	tier1	-	no_errors	ENST00000264258	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	101622446	C	T	101622446	3	4	86	1	0	0	0	0	1	0	0	0	13626	759	27	1	269	1	RPL31	2	101622446	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	32739819	101622446	141576927	30	22906											
EN1	2019	genome.wustl.edu	37	chr2	119600674	119600674	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggactcgttgaggctgAgttcctgggccagggtctgc	4	11	16	10	1	2	2	0	2	2	0	4	3	3	3	2	4	1	3	2	4	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:119600674A>T	ENST00000295206.6	-	2	1529	c.1019T>A	c.(1018-1020)cTc>cAc	p.L340H	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	340					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTTGAGGCTGAGTTCCTGGGC	0.612																																																	0													69	63	65					2																	119600674		2203	4300	6503	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.1019T>A	2.37:g.119600674A>T	ENSP00000295206:p.Leu340His		Q4ZG44	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.L340H	ENST00000295206.6	37	c.1019	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.323907	0.81580	.	.	ENSG00000163064	ENST00000295206	D	0.98296	-4.85	4.89	4.89	0.63831	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98029	1.0375	10	0.87932	D	0	-14.1387	14.1743	0.65529	1.0:0.0:0.0:0.0	.	340	Q05925	HME1_HUMAN	H	340	ENSP00000295206:L340H	ENSP00000295206:L340H	L	-	2	0	EN1	119317144	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.330000	0.96422	1.831000	0.53308	0.454000	0.30748	CTC	EN1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000163064		0.612	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3	-	0	54	0	A			119600674	-1	tier1	-	no_errors	ENST00000295206	ensembl	human	known	74_37	missense	19.30	46	11	SNP	1.000	T	T	119600674	A	T	119600674	3	4	86	1	0	0	0	0	1	0	0	0	5125	304	11	5	163	5	EN1	2	119600674	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	17978228	119600674	123598699	31	22907											
PLEKHB2	55041	genome.wustl.edu	37	chr2	131904337	131904337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttagggtctctattttgGgtcttctaggggcctcaagg	5	14	13	9	0	4	0	1	0	3	0	5	0	4	0	2	5	0	0	2	5	4	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:131904337G>T	ENST00000403716.1	+	8	1220	c.660G>T	c.(658-660)tgG>tgT	p.W220C	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000439822.2_3'UTR|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.W172C|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.W220C|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.W219C|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.W220C|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.W228C|PLEKHB2_ENST00000438882.2_3'UTR	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	220						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CTCTATTTTGGGTCTTCTAGG	0.493																																																	0													125	128	127					2																	131904337		2203	4300	6503	SO:0001583	missense	0				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"Pleckstrin homology (PH) domain containing"	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.660G>T	2.37:g.131904337G>T	ENSP00000385892:p.Trp220Cys		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.W220C	ENST00000403716.1	37	c.660	CCDS46413.1	2	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633466	0.67015	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	T	0.79540	0.4463	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.997	T	0.81172	-0.1054	8	0.72032	D	0.01	.	17.1543	0.86785	0.0:0.0:1.0:0.0	.	219;219;220;228	Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1	.;.;PKHB2_HUMAN;.	C	228;220;219;172;220;220	.	ENSP00000234115:W219C	W	+	3	0	PLEKHB2	131620807	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.357000	0.59436	2.654000	0.90174	0.644000	0.83932	TGG	PLEKHB2	-	NULL	ENSG00000115762		0.493	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB2	HGNC	protein_coding	OTTHUMT00000331304.2	-	0	68	0	G	NM_017958		131904337	1	tier1	-	no_errors	ENST00000403716	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	131904337	G	T	131904337	3	4	86	1	0	0	0	0	1	0	0	0	12104	1241	43	3	686	3	PLEKHB2	2	131904337	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	12303663	131904337	111295036	32	22908											
LRP1B	53353	genome.wustl.edu	37	chr2	141598614	141598614	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgagctaatccagtataAattacgtgacacccaatcca	14	11	5	11	1	1	2	0	2	1	0	3	2	3	2	3	0	2	2	3	0	6	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:141598614A>C	ENST00000389484.3	-	30	5958	c.4987T>G	c.(4987-4989)Tta>Gta	p.L1663V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1663					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCAGTATAAATTACGTGAC	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													136	126	130					2																	141598614		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.4987T>G	2.37:g.141598614A>C	ENSP00000374135:p.Leu1663Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.L1663V	ENST00000389484.3	37	c.4987	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828954	0.50845	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93604	-3.25	5.44	3.02	0.34903	Six-bladed beta-propeller, TolB-like (1);	0.105287	0.41001	U	0.000976	D	0.89959	0.6866	L	0.58669	1.825	0.35556	D	0.804269	B	0.15141	0.012	B	0.15052	0.012	D	0.88151	0.2851	10	0.66056	D	0.02	.	7.7369	0.28819	0.7864:0.1408:0.0728:0.0	.	1663	Q9NZR2	LRP1B_HUMAN	V	1663;1601	ENSP00000374135:L1663V	ENSP00000374135:L1663V	L	-	1	2	LRP1B	141315084	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.978000	0.40598	0.864000	0.35578	0.377000	0.23210	TTA	LRP1B	-	smart_LDLR_classB_rpt	ENSG00000168702		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	86	0	A	NM_018557		141598614	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	C	C	141598614	A	C	141598614	3	2	86	1	0	0	0	0	1	0	0	0	8990	11	1	4	9060	4	LRP1B	2	141598614	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	9694277	141598614	101600759	33	22909											
C2orf77	129881	genome.wustl.edu	37	chr2	170502518	170502518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacctccaggtccttcctGtacagcttttacaagagggt	8	11	9	13	0	0	1	0	0	0	1	3	1	3	1	5	2	3	2	5	2	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:170502518G>T	ENST00000447353.1	-	9	1597	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	498																	GGTCCTTCCTGTACAGCTTTT	0.443																																																	0													172	176	175					2																	170502518		1885	4104	5989	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"hypothetical LOC129881"		"chromosome 2 open reading frame 77"	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1492C>A	2.37:g.170502518G>T	ENSP00000391504:p.Gln498Lys		Q6PJF6	Missense_Mutation	SNP	NULL	p.Q498K	ENST00000447353.1	37	c.1492	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878328	0.33162	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.87	3.94	0.45596	.	0.552371	0.19114	N	0.122350	T	0.37489	0.1005	L	0.50333	1.59	0.28565	N	0.910919	B	0.02656	0.0	B	0.04013	0.001	T	0.24261	-1.0165	9	0.12103	T	0.63	.	9.9798	0.41806	0.0:0.1133:0.6303:0.2564	.	498	Q0VFZ6	CB077_HUMAN	K	498	.	ENSP00000391504:Q498K	Q	-	1	0	C2orf77	170210764	0.883000	0.30277	0.999000	0.59377	0.988000	0.76386	1.994000	0.40757	1.578000	0.49821	0.655000	0.94253	CAG	CCDC173	-	NULL	ENSG00000154479		0.443	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2	-	0	90	0	G	NM_001085447		170502518	-1	tier1	-	no_errors	ENST00000447353	ensembl	human	known	74_37	missense	5.68	83	5	SNP	0.994	T	T	170502518	G	T	170502518	3	4	86	1	0	0	0	0	1	0	0	0	2201	1386	48	3	170	3	C2orf77	2	170502518	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	28903904	170502518	72696855	34	22910											
TTN	7273	genome.wustl.edu	37	chr2	179471802	179471802	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaggagggccacagccaaActtgttcttggcaataacac	14	7	9	11	0	1	0	0	0	1	0	1	1	1	1	2	3	4	2	2	3	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:179471802A>T	ENST00000591111.1	-	228	48828	c.48604T>A	c.(48604-48606)Ttt>Att	p.F16202I	TTN_ENST00000342175.6_Missense_Mutation_p.F8970I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F8778I|TTN_ENST00000589042.1_Missense_Mutation_p.F17843I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F8903I|TTN_ENST00000342992.6_Missense_Mutation_p.F15275I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16202	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACAGCCAAACTTGTTCTTG	0.403																																																	0													175	169	171					2																	179471802		1890	4114	6004	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48604T>A	2.37:g.179471802A>T	ENSP00000465570:p.Phe16202Ile		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.F15275I	ENST00000591111.1	37	c.45823		2	.	.	.	.	.	.	.	.	.	.	A	13.90	2.376238	0.42105	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.35	5.35	0.76521	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49064	0.1535	N	0.10972	0.075	0.51482	D	0.999925	D;D;D;D	0.57571	0.961;0.961;0.961;0.98	P;P;P;P	0.55749	0.783;0.783;0.783;0.783	T	0.59516	-0.7440	9	0.87932	D	0	.	15.3434	0.74314	1.0:0.0:0.0:0.0	.	8778;8903;8970;16202	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15275;8778;8970;8903;8778	ENSP00000343764:F15275I;ENSP00000434586:F8778I;ENSP00000340554:F8970I;ENSP00000352154:F8903I	ENSP00000340554:F8970I	F	-	1	0	TTN	179180047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.281000	0.95811	2.035000	0.60131	0.459000	0.35465	TTT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	33	0	A	NM_133378		179471802	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	T	T	179471802	A	T	179471802	3	4	86	1	0	0	0	0	1	0	0	0	16784	43	2	5	54506	5	TTN	2	179471802	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	8969284	179471802	63727571	35	22911											
TTN	7273	genome.wustl.edu	37	chr2	179602912	179602912	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggttctcaggatttcaagGctggagatatactttgaaga	11	13	12	5	0	2	3	2	1	1	2	3	5	2	4	0	4	1	2	0	4	4	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:179602912G>A	ENST00000591111.1	-	47	13541	c.13317C>T	c.(13315-13317)agC>agT	p.S4439S	TTN_ENST00000342175.6_Silent_p.S4585S|TTN_ENST00000460472.2_Silent_p.S4393S|TTN_ENST00000589042.1_Silent_p.S4756S|TTN_ENST00000359218.5_Silent_p.S4518S|TTN_ENST00000342992.6_Silent_p.S3512S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12195	Ig-like 24.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATTTCAAGGCTGGAGATAT	0.463																																																	0													69	67	68					2																	179602912		1890	4116	6006	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13317C>T	2.37:g.179602912G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S3512	ENST00000591111.1	37	c.10536		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	81	0	G	NM_133378		179602912	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	5.41	68	4	SNP	0.701	A	A	179602912	G	A	179602912	2	1	86	1	0	0	0	0	0	0	0	1	16784	1194	42	3		3	TTN	2	179602912	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	131110	179602912	63596461	36	22912											
SGOL2	151246	genome.wustl.edu	37	chr2	201399805	201399805	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaaaagagaattctcgaAgaattacaactgaaaagatg	21	7	9	4	1	1	5	0	1	1	4	2	8	1	5	0	0	2	0	0	0	9	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:201399805A>C	ENST00000357799.4	+	3	318	c.220A>C	c.(220-222)Aga>Cga	p.R74R	SGOL2_ENST00000409203.3_Silent_p.R74R	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	74					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAATTCTCGAAGAATTACAAC	0.313																																																	0													61	56	57					2																	201399805		1807	4064	5871	SO:0001819	synonymous_variant	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.220A>C	2.37:g.201399805A>C			Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	NULL	p.R74	ENST00000357799.4	37	c.220	CCDS42796.1	2																																																																																			SGOL2	-	NULL	ENSG00000163535		0.313	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	-	0	97	0	A	NM_152524		201399805	1	tier1	-	no_errors	ENST00000357799	ensembl	human	known	74_37	silent	24.36	59	19	SNP	1.000	C	C	201399805	A	C	201399805	2	2	86	1	0	0	0	0	0	0	0	1	14262	64	3	4		4	SGOL2	2	201399805	Silent	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	21796893	201399805	41799568	37	22913											
PARD3B	117583	genome.wustl.edu	37	chr2	206036969	206036969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaatgaccagctgattgCagttaatggggaatctcttt	12	13	10	6	0	1	3	0	3	1	0	2	4	1	4	1	2	2	3	1	2	4	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:206036969C>T	ENST00000406610.2	+	12	1862	c.1655C>T	c.(1654-1656)gCa>gTa	p.A552V	PARD3B_ENST00000462231.1_Missense_Mutation_p.A552V|PARD3B_ENST00000349953.3_Missense_Mutation_p.A552V|PARD3B_ENST00000358768.2_Missense_Mutation_p.A490V|PARD3B_ENST00000351153.1_Missense_Mutation_p.A552V	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	552	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.A491V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGCTGATTGCAGTTAATGGG	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											134	125	128					2																	206036969		1920	4139	6059	SO:0001583	missense	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19", "par-3 partitioning defective 3 homolog B (C. elegans)"	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1655C>T	2.37:g.206036969C>T	ENSP00000385848:p.Ala552Val		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A552V	ENST00000406610.2	37	c.1655		2	.	.	.	.	.	.	.	.	.	.	C	33	5.236530	0.95240	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.30182	1.54;2.1;1.54;1.54	5.65	5.65	0.86999	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.64260	1.97	0.58432	D	0.999997	D;D;D;D;D	0.89917	0.999;1.0;0.988;1.0;1.0	D;D;D;D;D	0.97110	0.988;0.999;0.943;0.999;1.0	T	0.56226	-0.8014	10	0.72032	D	0.01	.	19.733	0.96192	0.0:1.0:0.0:0.0	.	552;552;552;490;552	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	V	552;490;552;552	ENSP00000385848:A552V;ENSP00000351618:A490V;ENSP00000317261:A552V;ENSP00000340280:A552V	ENSP00000340280:A552V	A	+	2	0	PARD3B	205745214	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.717000	0.68446	2.665000	0.90641	0.585000	0.79938	GCA	PARD3B	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000116117		0.453	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1		0	68	0	C	NM_057177		206036969	1			no_errors	ENST00000406610	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	206036969	C	T	206036969	3	4	86	1	0	0	0	0	1	0	0	0	11483	710	25	3	1701	3	PARD3B	2	206036969	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	4637164	206036969	37162404	38	22914											
NRP2	8828	genome.wustl.edu	37	chr2	206592644	206592644	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctttttaaccatgctcacGgccatcgcaacacagggagc	10	8	9	14	3	1	0	1	0	0	0	2	1	1	1	2	2	4	3	2	2	2	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:206592644G>T	ENST00000357785.5	+	7	1051	c.1020G>T	c.(1018-1020)acG>acT	p.T340T	NRP2_ENST00000360409.3_Silent_p.T340T|NRP2_ENST00000357118.4_Silent_p.T340T|NRP2_ENST00000417189.1_Silent_p.T340T|NRP2_ENST00000355117.4_Silent_p.T340T|NRP2_ENST00000272849.3_Silent_p.T340T|NRP2_ENST00000412873.2_Silent_p.T340T|NRP2_ENST00000540841.1_Silent_p.T340T|NRP2_ENST00000540178.1_Silent_p.T340T			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T340T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCATGCTCACGGCCATCGCAA	0.502																																																	1	Substitution - coding silent(1)	ovary(1)											95	79	84					2																	206592644		2203	4300	6503	SO:0001819	synonymous_variant	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1020G>T	2.37:g.206592644G>T			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.T340	ENST00000357785.5	37	c.1020	CCDS46496.1	2																																																																																			NRP2	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000118257		0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1		0	30	0	G			206592644	1			no_errors	ENST00000360409	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.005	T	T	206592644	G	T	206592644	2	4	86	1	0	0	0	0	0	0	0	1	10700	1103	39	2		2	NRP2	2	206592644	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	555675	206592644	36606729	39	22915											
MAP2	4133	genome.wustl.edu	37	chr2	210557839	210557839	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgattctcccatgccaagTccctttcaagggggaagctt	8	13	9	11	0	2	1	1	1	1	0	4	2	3	2	3	2	2	1	3	2	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:210557839T>C	ENST00000360351.4	+	7	1451	c.945T>C	c.(943-945)agT>agC	p.S315S	MAP2_ENST00000447185.1_Silent_p.S311S|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	315					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCATGCCAAGTCCCTTTCAAG	0.458																																					Pancreas(27;423 979 28787 29963)												0													69	71	70					2																	210557839		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.945T>C	2.37:g.210557839T>C			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.S315	ENST00000360351.4	37	c.945	CCDS2384.1	2																																																																																			MAP2	-	NULL	ENSG00000078018		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	43	0	T	NM_001039538		210557839	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	silent	25.00	27	9	SNP	0.997	C	C	210557839	T	C	210557839	2	2	86	1	0	0	0	0	0	0	0	1	9273	1664	58	4		4	MAP2	2	210557839	Silent	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	3965195	210557839	32641534	40	22916											
VIL1	7429	genome.wustl.edu	37	chr2	219296821	219296821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggattccaagtggctagGccacttctatgggggcgact	7	11	14	9	1	1	0	0	0	1	0	2	2	2	1	2	5	0	1	2	5	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:219296821G>A	ENST00000248444.5	+	12	1344	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	VIL1_ENST00000392114.2_Missense_Mutation_p.G108D	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	419	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGTGGCTAGGCCACTTCTAT	0.587																																																	0													94	74	81					2																	219296821		2203	4300	6503	SO:0001583	missense	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1256G>A	2.37:g.219296821G>A	ENSP00000248444:p.Gly419Asp		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.G419D	ENST00000248444.5	37	c.1256	CCDS2417.1	2	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376348	0.61735	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.15952	2.38;2.38	4.57	4.57	0.56435	Gelsolin domain (1);	0.000000	0.64402	D	0.000001	T	0.60830	0.2299	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78942	-0.2005	10	0.87932	D	0	-23.8373	17.5455	0.87860	0.0:0.0:1.0:0.0	.	419	P09327	VILI_HUMAN	D	419;108	ENSP00000248444:G419D;ENSP00000375962:G108D	ENSP00000248444:G419D	G	+	2	0	VIL1	219005065	1.000000	0.71417	0.994000	0.49952	0.016000	0.09150	9.526000	0.98042	2.387000	0.81309	0.561000	0.74099	GGC	VIL1	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	ENSG00000127831		0.587	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3		0	36	0	G	NM_007127		219296821	1			no_errors	ENST00000248444	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	219296821	G	A	219296821	3	1	86	1	0	0	0	0	1	0	0	0	17213	1203	42	3	1298	3	VIL1	2	219296821	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	8738982	219296821	23902552	41	22917											
TRIP12	9320	genome.wustl.edu	37	chr2	230683196	230683196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgactttcatcactggcttGcaatccttgtagtagctgct	7	16	8	10	0	2	1	2	1	0	0	3	1	3	1	1	1	3	6	1	1	3	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr2:230683196G>T	ENST00000283943.5	-	8	1517	c.1339C>A	c.(1339-1341)Caa>Aaa	p.Q447K	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q150K|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q495K	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	447					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCACTGGCTTGCAATCCTTGT	0.388																																																	0													121	119	120					2																	230683196		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1339C>A	2.37:g.230683196G>T	ENSP00000283943:p.Gln447Lys		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.Q447K	ENST00000283943.5	37	c.1339	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020311	0.93462	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.34472	1.36;1.36;1.36	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	L	0.38692	1.165	0.80722	D	1	P;P;P;P	0.49447	0.924;0.713;0.713;0.713	P;P;P;P	0.62298	0.9;0.761;0.761;0.761	T	0.39860	-0.9593	10	0.46703	T	0.11	.	19.8984	0.96975	0.0:0.0:1.0:0.0	.	453;150;495;447	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	K	447;150;495	ENSP00000283943:Q447K;ENSP00000373697:Q150K;ENSP00000373696:Q495K	ENSP00000283943:Q447K	Q	-	1	0	TRIP12	230391440	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.706000	0.98722	2.712000	0.92718	0.555000	0.69702	CAA	TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.388	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3		0	73	0	G	NM_004238		230683196	-1			no_errors	ENST00000283943	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	230683196	G	T	230683196	3	4	86	1	0	0	0	0	1	0	0	0	16604	1328	46	3	4775	3	TRIP12	2	230683196	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	11386375	230683196	12516177	42	22918											
TOP2B	7155	genome.wustl.edu	37	chr3	25675418	25675418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatcccatctttcatttgCaagctcatgaataactttca	13	14	3	11	0	4	1	3	1	1	0	5	1	5	1	1	0	4	2	1	0	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:25675418C>T	ENST00000264331.4	-	8	939	c.940G>A	c.(940-942)Gca>Aca	p.A314T	TOP2B_ENST00000435706.2_Missense_Mutation_p.A309T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	314					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTTCATTTGCAAGCTCATGA	0.338																																																	0													131	125	127					3																	25675418		1849	4089	5938	SO:0001583	missense	0			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"topoisomerase (DNA) II beta (180kD)"			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.940G>A	3.37:g.25675418C>T	ENSP00000264331:p.Ala314Thr		Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.A314T	ENST00000264331.4	37	c.940		3	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362015	0.82353	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.44083	0.93;0.93	5.49	5.49	0.81192	.	0.179749	0.50627	D	0.000115	T	0.33818	0.0876	N	0.17631	0.505	0.80722	D	1	B	0.12013	0.005	B	0.16722	0.016	T	0.07139	-1.0788	10	0.46703	T	0.11	-3.5866	19.3421	0.94347	0.0:1.0:0.0:0.0	.	309	Q02880-2	.	T	309;314;309	ENSP00000396704:A309T;ENSP00000264331:A314T	ENSP00000264331:A314T	A	-	1	0	TOP2B	25650422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.590000	0.87494	0.650000	0.86243	GCA	TOP2B	-	pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA	ENSG00000077097		0.338	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		-	0	56	0	C			25675418	-1	tier1	-	no_errors	ENST00000264331	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	25675418	C	T	25675418	3	4	86	1	0	0	0	0	1	0	0	0	16414	710	25	3	4056	3	TOP2B	3	25675418	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09		25675418	172347012	43	22919											
STT3B	201595	genome.wustl.edu	37	chr3	31674472	31674472	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccgaacacgtaatgctGagattggaaataaggacatt	15	10	10	6	2	0	2	0	2	0	1	0	6	0	4	1	2	2	2	1	2	4	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:31674472G>T	ENST00000295770.2	+	15	2442	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	745					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						ACGTAATGCTGAGATTGGAAA	0.368																																																	0													134	134	134					3																	31674472		2203	4300	6503	SO:0001587	stop_gained	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.2233G>T	3.37:g.31674472G>T	ENSP00000295770:p.Glu745*		Q96JZ4|Q96KY7	Nonsense_Mutation	SNP	pfam_Oligo_trans_STT3	p.E745*	ENST00000295770.2	37	c.2233	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.577115	0.99210	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-15.4458	19.7383	0.96217	0.0:0.0:1.0:0.0	.	.	.	.	X	745	.	ENSP00000295770:E745X	E	+	1	0	STT3B	31649476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.744000	0.94065	0.655000	0.94253	GAG	STT3B	-	NULL	ENSG00000163527		0.368	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2		0	65	0	G	NM_178862		31674472	1			no_errors	ENST00000295770	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	T	T	31674472	G	T	31674472	4	4	86	1	0	0	0	0	0	1	0	0	15381	1291	45	3	2291	3	STT3B	3	31674472	Nonsense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	5999054	31674472	166347958	44	22920											
DLEC1	9940	genome.wustl.edu	37	chr3	38103733	38103733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccagaagaaagagctgaaCaagaagcttgaagattcatg	17	7	11	6	0	1	7	1	2	0	5	2	7	2	7	1	0	3	2	1	0	6	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:38103733C>T	ENST00000308059.6	+	4	768	c.747C>T	c.(745-747)aaC>aaT	p.N249N	DLEC1_ENST00000452631.2_Silent_p.N249N|DLEC1_ENST00000346219.3_Silent_p.N249N					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AAGAGCTGAACAAGAAGCTTG	0.448																																																	0													99	91	94					3																	38103733		1971	4173	6144	SO:0001819	synonymous_variant	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"cilia and flagella associated protein 81"	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.747C>T	3.37:g.38103733C>T				Silent	SNP	superfamily_PapD-like	p.N249	ENST00000308059.6	37	c.747	CCDS2672.2	3																																																																																			DLEC1	-	NULL	ENSG00000008226		0.448	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	-	0	46	0	C	NM_007337		38103733	1	tier1	-	no_errors	ENST00000346219	ensembl	human	known	74_37	silent	11.11	39	5	SNP	0.003	T	T	38103733	C	T	38103733	2	4	86	1	0	0	0	0	0	0	0	1	4566	477	17	3		3	DLEC1	3	38103733	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	6429261	38103733	159918697	45	22921											
SCN5A	6331	genome.wustl.edu	37	chr3	38651309	38651309	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgccgttgagcgctgtgaAgttgcgcacgcacttgtgcc	5	10	15	11	4	0	2	0	2	0	0	0	2	0	2	2	1	4	5	2	1	1	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:38651309A>C	ENST00000333535.4	-	7	999	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	SCN5A_ENST00000449557.2_Missense_Mutation_p.F284V|SCN5A_ENST00000414099.2_Missense_Mutation_p.F284V|SCN5A_ENST00000425664.1_Missense_Mutation_p.F284V|SCN5A_ENST00000423572.2_Missense_Mutation_p.F284V|SCN5A_ENST00000451551.2_Missense_Mutation_p.F284V|SCN5A_ENST00000413689.1_Missense_Mutation_p.F284V|SCN5A_ENST00000443581.1_Missense_Mutation_p.F284V|SCN5A_ENST00000450102.2_Missense_Mutation_p.F284V|SCN5A_ENST00000455624.2_Missense_Mutation_p.F284V			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	284					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCGCTGTGAAGTTGCGCACG	0.592																																																	0													75	81	79					3																	38651309		2170	4272	6442	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.850T>G	3.37:g.38651309A>C	ENSP00000328968:p.Phe284Val		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.F284V	ENST00000333535.4	37	c.850	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225395	0.39300	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000399254	D;D;D;D;D;D;D;D;D;D	0.95949	-3.78;-3.8;-3.8;-3.8;-3.8;-3.78;-3.8;-3.86;-3.8;-3.8	5.34	5.34	0.76211	Ion transport (1);	0.424581	0.26032	N	0.026757	D	0.88676	0.6501	N	0.03983	-0.305	0.36036	D	0.839762	B;P;P;B;B;P;B	0.43231	0.01;0.763;0.801;0.01;0.01;0.622;0.008	B;B;P;B;B;B;B	0.46510	0.012;0.385;0.519;0.012;0.012;0.217;0.007	D	0.88573	0.3131	10	0.17369	T	0.5	.	9.9009	0.41346	0.9246:0.0:0.0754:0.0	.	284;284;284;284;284;284;284	E9PEF3;Q14524-3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	V	284;284;284;284;284;284;284;284;284;284;94	ENSP00000398962:F284V;ENSP00000398266:F284V;ENSP00000410257:F284V;ENSP00000388797:F284V;ENSP00000397915:F284V;ENSP00000416634:F284V;ENSP00000328968:F284V;ENSP00000399524:F284V;ENSP00000403355:F284V;ENSP00000413996:F284V	ENSP00000328968:F284V	F	-	1	0	SCN5A	38626313	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	1.844000	0.39269	2.248000	0.74166	0.533000	0.62120	TTC	SCN5A	-	pfam_Ion_trans_dom	ENSG00000183873		0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	36	0	A	NM_198056		38651309	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	C	C	38651309	A	C	38651309	3	2	86	1	0	0	0	0	1	0	0	0	13967	72	3	4	5288	4	SCN5A	3	38651309	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	547576	38651309	159371121	46	22922											
CCR5	1234	genome.wustl.edu	37	chr3	46414667	46414667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggctcactatgctgccGcccagtgggactttggaaat	7	11	12	11	1	2	0	1	0	1	0	2	2	2	2	2	3	2	2	2	3	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:46414667G>A	ENST00000292303.4	+	2	420	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Missense_Mutation_p.A92T|CCR5_ENST00000445772.1_Missense_Mutation_p.A92T	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	92					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CTATGCTGCCGCCCAGTGGGA	0.473																																																	0													173	171	171					3																	46414667		2203	4296	6499	SO:0001583	missense	0				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1606	protein-coding gene	gene with protein product		601373	"chemokine (C-C motif) receptor 5"	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.274G>A	3.37:g.46414667G>A	ENSP00000292303:p.Ala92Thr		O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt	p.A92T	ENST00000292303.4	37	c.274	CCDS2739.1	3	.	.	.	.	.	.	.	.	.	.	G	5.406	0.260046	0.10239	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.72615	-0.67;-0.67;-0.67	5.42	-2.67	0.06059	GPCR, rhodopsin-like superfamily (1);	0.985119	0.08230	U	0.977791	T	0.50274	0.1606	N	0.25890	0.77	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.22695	-1.0209	10	0.33940	T	0.23	.	2.7975	0.05405	0.3804:0.311:0.2163:0.0923	.	92	P51681	CCR5_HUMAN	T	92;72;92;92	ENSP00000343985:A92T;ENSP00000292303:A92T;ENSP00000404881:A92T	ENSP00000292303:A92T	A	+	1	0	CCR5	46389671	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.099000	0.11007	-0.992000	0.03472	-0.314000	0.08810	GCC	CCR5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt	ENSG00000160791		0.473	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR5	HGNC	protein_coding	OTTHUMT00000257377.2	-	0	52	0	G	NM_000579		46414667	1	tier1	-	no_errors	ENST00000292303	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.000	A	A	46414667	G	A	46414667	3	1	86	1	0	0	0	0	1	0	0	0	2951	1087	38	1	276	1	CCR5	3	46414667	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	7763358	46414667	151607763	47	22923											
VPRBP	9730	genome.wustl.edu	37	chr3	51456251	51456251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgccaagcatcaggaaccGctcccgtgctgagaatgcac	10	6	12	13	2	1	1	1	1	0	1	2	3	2	2	3	2	5	4	3	2	3	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:51456251G>A	ENST00000335891.5	-	8	1978	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1106					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATCAGGAACCGCTCCCGTGCT	0.498																																																	0													60	64	63					3																	51456251		1970	4168	6138	SO:0001583	missense	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1969C>T	3.37:g.51456251G>A	ENSP00000338857:p.Arg657Trp		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R657W	ENST00000335891.5	37	c.1969		3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067293	0.76301	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.01446	4.88;4.88	5.99	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.053669	0.64402	D	0.000001	T	0.06872	0.0175	L	0.43923	1.385	0.58432	D	0.999996	D	0.89917	1.0	D	0.79108	0.992	T	0.20338	-1.0278	10	0.72032	D	0.01	-13.252	16.4851	0.84182	0.0:0.0:0.5853:0.4147	.	1106	Q9Y4B6	VPRBP_HUMAN	W	677;657	ENSP00000393183:R677W;ENSP00000338857:R657W	ENSP00000338857:R657W	R	-	1	2	VPRBP	51431291	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	2.712000	0.47186	0.837000	0.34925	0.655000	0.94253	CGG	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000145041		0.498	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		-	0	34	0	G	NM_014703		51456251	-1	tier1	-	no_errors	ENST00000335891	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	A	A	51456251	G	A	51456251	3	1	86	1	0	0	0	0	1	0	0	0	17234	1086	38	1	1247	1	VPRBP	3	51456251	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	5041584	51456251	146566179	48	22924											
TKT	7086	genome.wustl.edu	37	chr3	53262291	53262291	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggcatgcgaggcactgaCcttggcttgtccgacctgga	6	9	15	11	2	0	1	0	1	0	0	1	4	1	2	3	5	1	3	3	5	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:53262291C>T	ENST00000462138.1	-	11	1568		c.e11+1		TKT_ENST00000296289.6_Splice_Site|TKT_ENST00000461139.1_Splice_Site|TKT_ENST00000423516.1_Splice_Site|TKT_ENST00000423525.2_Splice_Site			P29401	TKT_HUMAN	transketolase						carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		GAGGCACTGACCTTGGCTTGT	0.602																																					Colon(133;1506 2347 35238 42177)												0													126	120	122					3																	53262291		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"Wernicke-Korsakoff syndrome"	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1479+1G>A	3.37:g.53262291C>T			A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Splice_Site	SNP	-	e11+1	ENST00000462138.1	37	c.1479+1	CCDS2871.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800906	0.90538	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1431	0.93452	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TKT	53237331	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.731000	0.84895	2.590000	0.87494	0.563000	0.77884	.	TKT	-	-	ENSG00000163931		0.602	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	-	0	56	0	C		Intron	53262291	-1	tier1	-	no_errors	ENST00000423525	ensembl	human	known	74_37	splice_site	8.00	46	4	SNP	1.000	T	T	53262291	C	T	53262291	5	4	86	1	0	0	0	0	0	0	1	0	15981	521	18	3	407	3	TKT	3	53262291	Splice_Site	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1806040	53262291	144760139	49	22925											
LRTM1	57408	genome.wustl.edu	37	chr3	54958762	54958762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatggattccaggagcgctCgatcaagctgctgaagctgg	9	8	14	10	2	1	1	1	1	0	0	3	4	2	3	1	3	4	5	1	3	2	1	rs201096330	byFrequency	TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:54958762C>T	ENST00000273286.5	-	2	650	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.R87Q|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	163						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CAGGAGCGCTCGATCAAGCTG	0.488																																																	0													99	99	99					3																	54958762		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.488G>A	3.37:g.54958762C>T	ENSP00000273286:p.Arg163Gln		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R163Q	ENST00000273286.5	37	c.488	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	c	16.19	3.051815	0.55218	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90133	4.32;-2.62	5.96	4.16	0.48862	.	0.173533	0.51477	D	0.000091	D	0.92922	0.7748	L	0.42581	1.335	0.43141	D	0.994896	D	0.89917	1.0	D	0.68039	0.955	D	0.93275	0.6655	10	0.66056	D	0.02	.	16.7694	0.85533	0.0:0.7563:0.2437:0.0	.	163	Q9HBL6	LRTM1_HUMAN	Q	163;87	ENSP00000273286:R163Q;ENSP00000419772:R87Q	ENSP00000273286:R163Q	R	-	2	0	LRTM1	54933802	0.999000	0.42202	0.004000	0.12327	0.067000	0.16453	4.506000	0.60428	0.839000	0.34971	-0.121000	0.15023	CGA	LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.488	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	47	0	C	NM_020678		54958762	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.945	T	T	54958762	C	T	54958762	3	4	86	1	0	0	0	0	1	0	0	0	9079	884	31	1	557	1	LRTM1	3	54958762	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1696471	54958762	143063668	50	22926											
ERC2	26059	genome.wustl.edu	37	chr3	56044601	56044601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcgctgttctttcaagCgctcaattattctctcctgt	5	19	5	12	2	5	0	2	0	3	0	8	0	6	0	1	0	1	3	1	0	3	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:56044601C>T	ENST00000288221.6	-	9	2051	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	599						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCTTTCAAGCGCTCAATTAT	0.388																																																	0													199	181	186					3																	56044601		1837	4085	5922	SO:0001583	missense	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1796G>A	3.37:g.56044601C>T	ENSP00000288221:p.Arg599His		Q2T9F6|Q86TK4	Missense_Mutation	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.R599H	ENST00000288221.6	37	c.1796	CCDS46851.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.369866|5.369866	0.95900|0.95900	.|.	.|.	ENSG00000187672|ENSG00000187672	ENST00000492584|ENST00000288221	.|T	.|0.47869	.|0.83	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65770|0.65770	0.2723|0.2723	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	T|T	0.57579|0.57579	-0.7787|-0.7787	5|10	.|0.36615	.|T	.|0.2	-10.9059|-10.9059	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|599	.|O15083	.|ERC2_HUMAN	T|H	238|599	.|ENSP00000288221:R599H	.|ENSP00000288221:R599H	A|R	-|-	1|2	0|0	ERC2|ERC2	56019641|56019641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|CGC	ERC2	-	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	ENSG00000187672		0.388	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0	64	0	C	NM_015576		56044601	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	missense	17.31	43	9	SNP	1.000	T	T	56044601	C	T	56044601	3	4	86	1	0	0	0	0	1	0	0	0	5227	768	27	1	1103	1	ERC2	3	56044601	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1085839	56044601	141977829	51	22927											
TOPBP1	11073	genome.wustl.edu	37	chr3	133362168	133362168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggaactggtgtgaagaGaggattcgactttggatcaa	12	11	13	5	1	1	2	1	1	0	1	2	7	1	5	0	4	2	0	0	4	4	3	rs374554497		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:133362168G>T	ENST00000260810.5	-	12	2028	c.1897C>A	c.(1897-1899)Ctc>Atc	p.L633I	TOPBP1_ENST00000511439.1_5'Flank	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	633	BRCT 4. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L633F(1)|p.L546F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGTGTGAAGAGAGGATTCGAC	0.373								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												2	Substitution - Missense(2)	lung(2)											83	78	80					3																	133362168		1863	4102	5965	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.1897C>A	3.37:g.133362168G>T	ENSP00000260810:p.Leu633Ile		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.L633I	ENST00000260810.5	37	c.1897	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166762	0.78339	.	.	ENSG00000163781	ENST00000260810	T	0.15139	2.45	5.86	4.98	0.66077	BRCT (2);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.66939	2.045	0.51233	D	0.999913	D	0.89917	1.0	D	0.83275	0.996	T	0.22941	-1.0202	10	0.41790	T	0.15	.	16.9902	0.86351	0.0:0.1275:0.8725:0.0	.	633	Q92547	TOPB1_HUMAN	I	633	ENSP00000260810:L633I	ENSP00000260810:L633I	L	-	1	0	TOPBP1	134844858	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.219000	0.72231	1.462000	0.47948	0.655000	0.94253	CTC	TOPBP1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.373	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1		0	46	0	G	NM_007027		133362168	-1			no_errors	ENST00000260810	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	133362168	G	T	133362168	3	4	86	1	0	0	0	0	1	0	0	0	16417	942	33	3	2739	3	TOPBP1	3	133362168	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	77317567	133362168	64660262	52	22928											
TF	7018	genome.wustl.edu	37	chr3	133476751	133476751	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatgtacctgggctatGagtatgtcactgccatccgg	9	10	11	11	1	1	2	1	1	0	1	2	2	2	2	4	2	2	3	4	2	4	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:133476751G>T	ENST00000402696.3	+	8	1494	c.1009G>T	c.(1009-1011)Gag>Tag	p.E337*	TF_ENST00000264998.3_Nonsense_Mutation_p.E210*	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	337	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)	p.E337Q(2)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CCTGGGCTATGAGTATGTCAC	0.537																																																	2	Substitution - Missense(2)	breast(2)											83	76	78					3																	133476751		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1009G>T	3.37:g.133476751G>T	ENSP00000385834:p.Glu337*		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Nonsense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E337*	ENST00000402696.3	37	c.1009	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	G	38	6.986321	0.97983	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	.	.	.	5.1	-3.17	0.05202	.	0.948679	0.08974	N	0.866829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-13.386	11.3979	0.49854	0.1469:0.5699:0.2833:0.0	.	.	.	.	X	337;210	.	ENSP00000264998:E210X	E	+	1	0	TF	134959441	0.000000	0.05858	0.001000	0.08648	0.792000	0.44763	-0.855000	0.04295	-0.342000	0.08363	0.561000	0.74099	GAG	TF	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	ENSG00000091513		0.537	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1		0	54	0	G	NM_001063		133476751	1			no_errors	ENST00000402696	ensembl	human	known	74_37	nonsense	6.00	47	3	SNP	0.000	T	T	133476751	G	T	133476751	4	4	86	1	0	0	0	0	0	1	0	0	15832	1291	45	3	1039	3	TF	3	133476751	Nonsense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	114583	133476751	64545679	53	22929											
EIF2B5	8893	genome.wustl.edu	37	chr3	183855472	183855472	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taattacatcagagctctatCgatcactgggagatgtcctc	11	12	8	10	1	3	2	2	0	1	2	6	4	4	2	1	1	2	1	1	1	3	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr3:183855472C>T	ENST00000273783.3	+	3	507	c.385C>T	c.(385-387)Cga>Tga	p.R129*	RP11-778D9.12_ENST00000608232.1_RNA|RP11-778D9.12_ENST00000608135.1_RNA|EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Nonsense_Mutation_p.R129*	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	129					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGAGCTCTATCGATCACTGGG	0.473																																																	0													167	143	151					3																	183855472		2203	4300	6503	SO:0001587	stop_gained	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.385C>T	3.37:g.183855472C>T	ENSP00000273783:p.Arg129*		Q541Z1|Q96D04	Nonsense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.R129*	ENST00000273783.3	37	c.385	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	c	37	6.167074	0.97343	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	.	.	.	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-10.4254	13.7014	0.62611	0.2975:0.7025:0.0:0.0	.	.	.	.	X	129	.	ENSP00000273783:R129X	R	+	1	2	EIF2B5	185338166	1.000000	0.71417	0.986000	0.45419	0.913000	0.54294	4.874000	0.63064	1.426000	0.47256	0.655000	0.94253	CGA	EIF2B5	-	NULL	ENSG00000145191		0.473	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	-	0	43	0	C			183855472	1	tier1	-	no_errors	ENST00000273783	ensembl	human	known	74_37	nonsense	8.96	61	6	SNP	1.000	T	T	183855472	C	T	183855472	4	4	86	1	0	0	0	0	0	1	0	0	5018	876	31	1	395	1	EIF2B5	3	183855472	Nonsense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	50378721	183855472	14166958	54	22930											
SLC4A4	8671	genome.wustl.edu	37	chr4	72425833	72425833	+	Frame_Shift_Del	DEL	A	A	-																															ttggcacttgtagctgtcagAaaaggcatggactacctctt																										TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:72425833delA	ENST00000264485.5	+	23	3078	c.2961delA	c.(2959-2961)agafs	p.R987fs	SLC4A4_ENST00000351898.6_Frame_Shift_Del_p.R903fs|SLC4A4_ENST00000340595.3_Frame_Shift_Del_p.R943fs|SLC4A4_ENST00000425175.1_Frame_Shift_Del_p.R987fs	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	987					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TAGCTGTCAGAAAAGGCATGG	0.413																																																	0													139	133	135					4																	72425833		2203	4300	6503	SO:0001589	frameshift_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"Solute carriers"	11030	protein-coding gene	gene with protein product		603345	"solute carrier family 4, sodium bicarbonate cotransporter, member 4"	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2961delA	4.37:g.72425833delA	ENSP00000264485:p.Arg987fs		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Del	DEL	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.G989fs	ENST00000264485.5	37	c.2961	CCDS43236.1	4																																																																																			SLC4A4	-	tigrfam_HCO3_transpt_euk	ENSG00000080493		0.413	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1		0	41	0	A	NM_003759		72425833	1	tier1		no_errors	ENST00000425175	ensembl	human	known	74_37	frame_shift_del	8.33	33	3	DEL	1.000	-	-	72425833	A	-	72425833	7	5	86	1	0	1	0	1	0	0	0	0	14701	243	9	0	3168	0	SLC4A4	4	72425833	Frame_Shift_Del	DEL	A	TCGA-L5-A8NL-01A-12D-A37C-09		72425833	118728443	55	22931											
SEC31A	22872	genome.wustl.edu	37	chr4	83745770	83745770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtggtctttagaatgaGgtgctcatctggaataggtt	11	14	12	4	0	3	2	1	1	2	1	3	3	3	3	0	4	1	2	0	4	5	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:83745770G>T	ENST00000395310.2	-	25	3531	c.3349C>A	c.(3349-3351)Ctc>Atc	p.L1117I	SEC31A_ENST00000508502.1_Missense_Mutation_p.L1102I|SEC31A_ENST00000505472.1_Missense_Mutation_p.L1148I|SEC31A_ENST00000432794.1_Missense_Mutation_p.L1130I|SEC31A_ENST00000509142.1_Missense_Mutation_p.L1003I|SEC31A_ENST00000505984.1_Missense_Mutation_p.L1063I|SEC31A_ENST00000264405.5_Missense_Mutation_p.L866I|SEC31A_ENST00000513858.1_Missense_Mutation_p.L964I|SEC31A_ENST00000500777.2_Missense_Mutation_p.L964I|SEC31A_ENST00000355196.2_Missense_Mutation_p.L1117I|SEC31A_ENST00000443462.2_Missense_Mutation_p.L1097I|SEC31A_ENST00000448323.1_Missense_Mutation_p.L1117I|SEC31A_ENST00000311785.7_Missense_Mutation_p.L1003I|SEC31A_ENST00000348405.4_Missense_Mutation_p.L1078I|SEC31A_ENST00000326950.5_Missense_Mutation_p.L1078I	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1117					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTAGAATGAGGTGCTCATCT	0.363																																																	0													156	156	156					4																	83745770		2203	4300	6503	SO:0001583	missense	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3349C>A	4.37:g.83745770G>T	ENSP00000378721:p.Leu1117Ile		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1130I	ENST00000395310.2	37	c.3388	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.36|19.36	3.812520|3.812520	0.70912|0.70912	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984|ENST00000515062;ENST00000511338	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.38077|.	1.35;1.25;2.41;2.38;1.3;2.31;2.41;1.35;1.3;1.16;1.25;2.4;2.41;3.26;2.34|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.139013|.	0.49916|.	D|.	0.000121|.	T|T	0.48926|0.48926	0.1527|0.1527	L|L	0.31752|0.31752	0.955|0.955	0.23953|0.23953	N|N	0.996362|0.996362	D;D;P;P;P;D;P;D;P|.	0.69078|.	0.967;0.997;0.802;0.919;0.802;0.989;0.868;0.981;0.926|.	D;D;B;P;B;D;B;D;P|.	0.72625|.	0.93;0.978;0.231;0.548;0.231;0.968;0.346;0.967;0.835|.	T|T	0.42865|0.42865	-0.9426|-0.9426	10|5	0.20046|.	T|.	0.44|.	-13.2665|-13.2665	19.7538|19.7538	0.96281|0.96281	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1097;1063;964;1078;1003;1102;1117;866;1130|.	B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8|.	.;.;.;.;.;.;SC31A_HUMAN;.;.|.	I|H	1078;964;1117;1097;1003;1130;1117;1078;1003;1148;964;1102;1117;866;1063|101;213	ENSP00000337602:L1078I;ENSP00000426886:L964I;ENSP00000378721:L1117I;ENSP00000408027:L1097I;ENSP00000426569:L1003I;ENSP00000407944:L1130I;ENSP00000400926:L1117I;ENSP00000325087:L1078I;ENSP00000309070:L1003I;ENSP00000421633:L1148I;ENSP00000421464:L964I;ENSP00000424635:L1102I;ENSP00000347329:L1117I;ENSP00000264405:L866I;ENSP00000424451:L1063I|.	ENSP00000264405:L866I|.	L|P	-|-	1|2	0|0	SEC31A|SEC31A	83964794|83964794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.493000|4.493000	0.60341|0.60341	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	CTC|CCT	SEC31A	-	NULL	ENSG00000138674		0.363	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	-	0	70	0	G	NM_016211		83745770	-1	tier1	-	no_errors	ENST00000432794	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T	T	83745770	G	T	83745770	3	4	86	1	0	0	0	0	1	0	0	0	14043	1000	35	3	325	3	SEC31A	4	83745770	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	11319937	83745770	107408506	56	22932											
PTPN13	5783	genome.wustl.edu	37	chr4	87687596	87687596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttttaggtgatcgcgtcCtagctgtcaatggagttagt	9	15	11	6	2	1	1	1	1	0	0	3	2	2	2	1	2	1	2	1	2	5	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:87687596C>T	ENST00000411767.2	+	27	4318	c.4255C>T	c.(4255-4257)Cta>Tta	p.L1419L	PTPN13_ENST00000436978.1_Silent_p.L1424L|PTPN13_ENST00000427191.2_Silent_p.L1400L|PTPN13_ENST00000511467.1_Silent_p.L1424L|PTPN13_ENST00000316707.6_Silent_p.L1228L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1419	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.		L -> P. {ECO:0000269|PubMed:12436199}.		peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TGATCGCGTCCTAGCTGTCAA	0.363																																																	0													122	109	113					4																	87687596		1879	4106	5985	SO:0001819	synonymous_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4255C>T	4.37:g.87687596C>T			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L1424	ENST00000411767.2	37	c.4270	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000163629		0.363	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	50	0	C			87687596	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	87687596	C	T	87687596	2	4	86	1	0	0	0	0	0	0	0	1	12825	680	24	3		3	PTPN13	4	87687596	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	3941826	87687596	103466680	57	22933											
IBSP	3381	genome.wustl.edu	37	chr4	88732640	88732640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgaacaaggcataaacGgcaccagtaccaacagcaca	20	2	7	12	2	0	0	0	0	0	0	0	1	0	0	2	2	6	4	2	2	8	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:88732640G>A	ENST00000226284.5	+	7	599	c.532G>A	c.(532-534)Ggc>Agc	p.G178S		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	178					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AGGCATAAACGGCACCAGTAC	0.478																																																	0													171	152	158					4																	88732640		2203	4300	6503	SO:0001583	missense	0				CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"bone sialoprotein", "bone sialoprotein II"	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.532G>A	4.37:g.88732640G>A	ENSP00000226284:p.Gly178Ser			Missense_Mutation	SNP	pfam_BSP_II	p.G178S	ENST00000226284.5	37	c.532	CCDS3624.1	4	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624210	0.66901	.	.	ENSG00000029559	ENST00000226284	T	0.27104	1.69	4.89	3.1	0.35709	.	0.168026	0.42420	N	0.000701	T	0.20373	0.0490	L	0.52126	1.63	0.36574	D	0.87317	P	0.46859	0.885	B	0.37601	0.254	T	0.15350	-1.0440	10	0.56958	D	0.05	.	8.9094	0.35543	0.1835:0.0:0.8165:0.0	.	178	P21815	SIAL_HUMAN	S	178	ENSP00000226284:G178S	ENSP00000226284:G178S	G	+	1	0	IBSP	88951664	0.986000	0.35501	0.716000	0.30569	0.966000	0.64601	1.968000	0.40500	0.542000	0.28846	0.591000	0.81541	GGC	IBSP	-	pfam_BSP_II	ENSG00000029559		0.478	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBSP	HGNC	protein_coding	OTTHUMT00000253050.2	-	0	40	0	G			88732640	1	tier1	-	no_errors	ENST00000226284	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.980	A	A	88732640	G	A	88732640	3	1	86	1	0	0	0	0	1	0	0	0	7502	1116	39	1	554	1	IBSP	4	88732640	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	1045044	88732640	102421636	58	22934											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-																															ataaccccggcttcgaggccGaggaggaggaggaggaggtg																										TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0										18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				SO:0001651	inframe_deletion	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del		Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			PKD2	-	NULL	ENSG00000118762		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4		0	33	0	GAG	NM_000297		88929176	1	tier1		no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	15.38	22	4	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	86	1	0	1	0	1	0	0	0	0	12005	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-L5-A8NL-01A-12D-A37C-09	196534	88929174	102225102	59	22935											
PDHA2	5161	genome.wustl.edu	37	chr4	96762002	96762002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacatctactgagagagCagcagccagccctgattact	12	7	11	11	0	1	3	0	2	1	1	1	5	1	4	2	1	7	2	2	1	3	2	rs201115909		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:96762002C>T	ENST00000295266.4	+	1	764	c.701C>T	c.(700-702)gCa>gTa	p.A234V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	234					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ACTGAGAGAGCAGCAGCCAGC	0.433																																																	0													105	109	108					4																	96762002		2203	4300	6503	SO:0001583	missense	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.701C>T	4.37:g.96762002C>T	ENSP00000295266:p.Ala234Val		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.A234V	ENST00000295266.4	37	c.701	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971996	0.74246	.	.	ENSG00000163114	ENST00000295266	D	0.96200	-3.94	4.91	4.91	0.64330	Dehydrogenase, E1 component (1);	0.112950	0.64402	D	0.000014	D	0.96558	0.8877	L	0.54908	1.71	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.96785	0.9578	10	0.87932	D	0	-20.0456	16.0034	0.80327	0.0:1.0:0.0:0.0	.	234	P29803	ODPAT_HUMAN	V	234	ENSP00000295266:A234V	ENSP00000295266:A234V	A	+	2	0	PDHA2	96981025	1.000000	0.71417	0.299000	0.25016	0.549000	0.35272	7.036000	0.76524	2.733000	0.93635	0.467000	0.42956	GCA	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.433	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0	64	0	C			96762002	1	tier1	rs201115909	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.999	T	T	96762002	C	T	96762002	3	4	86	1	0	0	0	0	1	0	0	0	11704	710	25	3	703	3	PDHA2	4	96762002	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	7832828	96762002	94392274	60	22936											
ADH6	130	genome.wustl.edu	37	chr4	100130052	100130052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaagccgactcctcccaGgccaaacacagcacaggtag	14	3	9	15	1	0	1	0	0	0	1	2	2	2	1	4	2	3	2	4	2	3	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:100130052G>A	ENST00000237653.7	-	6	985	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	ADH6_ENST00000394897.1_Silent_p.L201L|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Silent_p.L201L|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	201					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.L201M(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ACTCCTCCCAGGCCAAACACA	0.458																																																	2	Substitution - Missense(2)	lung(2)											196	200	199					4																	100130052		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.601C>T	4.37:g.100130052G>A			B3KS45|Q58F53	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.L201	ENST00000237653.7	37	c.601	CCDS3647.1	4																																																																																			ADH6	-	smart_PKS_ER	ENSG00000172955		0.458	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1		0	26	0	G	NM_000672		100130052	-1			no_errors	ENST00000394899	ensembl	human	known	74_37	silent	5.26	36	2	SNP	1.000	A	A	100130052	G	A	100130052	2	1	86	1	0	0	0	0	0	0	0	1	312	991	35	3		3	ADH6	4	100130052	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	3368050	100130052	91024224	61	22937											
DKK2	27123	genome.wustl.edu	37	chr4	107845203	107845203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccttcgcacagtcgcaacGctggaaaatttccagcccat	10	8	8	15	3	0	0	0	0	0	0	3	1	1	1	3	1	2	3	3	1	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:107845203G>A	ENST00000285311.3	-	4	1393	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	DKK2_ENST00000510463.1_Missense_Mutation_p.R184C|DKK2_ENST00000513208.1_Missense_Mutation_p.R130C	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R230C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CAGTCGCAACGCTGGAAAATT	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											158	145	149					4																	107845203		2203	4300	6503	SO:0001583	missense	0			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"dickkopf (Xenopus laevis) homolog 2", "dickkopf 2 homolog (Xenopus laevis)"			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.688C>T	4.37:g.107845203G>A	ENSP00000285311:p.Arg230Cys		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.R230C	ENST00000285311.3	37	c.688	CCDS3675.1	4	.	.	.	.	.	.	.	.	.	.	G	19.01	3.742934	0.69418	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.57907	0.37;0.5;0.52	5.64	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.77040	-0.2735	10	0.87932	D	0	-11.8314	13.5124	0.61519	0.0:0.0:0.5801:0.4199	.	230	Q9UBU2	DKK2_HUMAN	C	230;130;184	ENSP00000285311:R230C;ENSP00000421255:R130C;ENSP00000423797:R184C	ENSP00000285311:R230C	R	-	1	0	DKK2	108064652	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.419000	0.59835	1.320000	0.45209	0.585000	0.79938	CGT	DKK2	-	NULL	ENSG00000155011		0.483	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	HGNC	protein_coding	OTTHUMT00000253959.4	-	0	30	0	G			107845203	-1	tier1	-	no_errors	ENST00000285311	ensembl	human	novel	74_37	missense	31.25	21	10	SNP	1.000	A	A	107845203	G	A	107845203	3	1	86	1	0	0	0	0	1	0	0	0	4559	1087	38	1	95	1	DKK2	4	107845203	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	7715151	107845203	83309073	62	22938											
ANKRD50	57182	genome.wustl.edu	37	chr4	125590831	125590831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaattggcactgtttgagCcgttgctgtagatgaagtag	10	13	12	6	1	1	3	1	2	0	1	1	3	1	3	1	1	2	6	1	1	4	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:125590831C>T	ENST00000504087.1	-	4	4638	c.3601G>A	c.(3601-3603)Gct>Act	p.A1201T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A1022T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1201	Ser-rich.							p.A1201T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTGTTTGAGCCGTTGCTGTA	0.393																																																	1	Substitution - Missense(1)	prostate(1)											129	127	128					4																	125590831		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3601G>A	4.37:g.125590831C>T	ENSP00000425658:p.Ala1201Thr		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A1201T	ENST00000504087.1	37	c.3601	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630378	0.67015	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.68624	-0.34;-0.3	5.29	5.29	0.74685	.	0.052111	0.85682	D	0.000000	T	0.66127	0.2758	N	0.08118	0	0.58432	D	0.999999	D	0.63880	0.993	D	0.74674	0.984	T	0.64588	-0.6372	10	0.19147	T	0.46	.	19.1278	0.93393	0.0:1.0:0.0:0.0	.	1201	Q9ULJ7	ANR50_HUMAN	T	1201;1022	ENSP00000425658:A1201T;ENSP00000425355:A1022T	ENSP00000425658:A1201T	A	-	1	0	ANKRD50	125810281	1.000000	0.71417	0.945000	0.38365	0.969000	0.65631	7.164000	0.77533	2.756000	0.94617	0.561000	0.74099	GCT	ANKRD50	-	NULL	ENSG00000151458		0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1		0	39	0	C	NM_020337		125590831	-1			no_errors	ENST00000504087	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	125590831	C	T	125590831	3	4	86	1	0	0	0	0	1	0	0	0	677	739	26	3	692	3	ANKRD50	4	125590831	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	17745628	125590831	65563445	63	22939											
MAML3	55534	genome.wustl.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																																	0													14	19	17					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"mastermind (drosophila)-like 3"	608991	"trinucleotide repeat containing 3"	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q494	ENST00000509479.2	37	c.1482	CCDS54805.1	4																																																																																			MAML3	-	NULL	ENSG00000196782		0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	-	0	26	0	C			140811108	-1	tier1	-	no_errors	ENST00000509479	ensembl	human	known	74_37	silent	16.00	21	4	SNP	1.000	T	T	140811108	C	T	140811108	2	4	86	1	0	0	0	0	0	0	0	1	9245	796	28	3		3	MAML3	4	140811108	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	15220277	140811108	50343168	64	22940											
KIAA0922	23240	genome.wustl.edu	37	chr4	154541996	154541996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaaagtcgaacatgtaGaaagaacaagaaaaggggtg	20	5	13	3	1	0	3	0	0	0	3	1	5	0	3	0	2	2	2	0	2	9	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:154541996G>T	ENST00000409663.3	+	27	3705	c.3653G>T	c.(3652-3654)aGa>aTa	p.R1218I	KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1219I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1135I	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1218						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGAACATGTAGAAAGAACAAG	0.323																																																	0													91	108	103					4																	154541996		2203	4300	6503	SO:0001583	missense	0			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3653G>T	4.37:g.154541996G>T	ENSP00000386574:p.Arg1218Ile		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.R1219I	ENST00000409663.3	37	c.3656	CCDS3783.2	4	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165024	0.57476	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.33438	1.75;1.41;1.75;1.43	5.63	5.63	0.86233	.	0.421727	0.27486	N	0.019160	T	0.55242	0.1908	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	T	0.54337	-0.8309	10	0.66056	D	0.02	-21.9598	19.6809	0.95962	0.0:0.0:1.0:0.0	.	1135;1219;1218	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	I	1218;1135;1219;996	ENSP00000386574:R1218I;ENSP00000409663:R1135I;ENSP00000386787:R1219I;ENSP00000240487:R996I	ENSP00000240487:R996I	R	+	2	0	KIAA0922	154761446	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	4.553000	0.60753	2.644000	0.89710	0.655000	0.94253	AGA	KIAA0922	-	NULL	ENSG00000121210		0.323	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0922	HGNC	protein_coding	OTTHUMT00000330370.1	-	0	72	0	G	NM_015196		154541996	1	tier1	-	no_errors	ENST00000409959	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	154541996	G	T	154541996	3	4	86	1	0	0	0	0	1	0	0	0	8228	942	33	3	3762	3	KIAA0922	4	154541996	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	13730888	154541996	36612280	65	22941											
GALNT7	51809	genome.wustl.edu	37	chr4	174223211	174223211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttaggtccccagccatgGctgggggattatttgccatt	6	14	11	10	0	1	0	0	0	1	0	2	1	2	1	4	4	2	1	4	4	2	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:174223211G>T	ENST00000265000.4	+	7	1245	c.1162G>T	c.(1162-1164)Gct>Tct	p.A388S		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	388	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CCCAGCCATGGCTGGGGGATT	0.438																																																	0													214	222	219					4																	174223211		2203	4300	6503	SO:0001583	missense	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1162G>T	4.37:g.174223211G>T	ENSP00000265000:p.Ala388Ser		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A388S	ENST00000265000.4	37	c.1162	CCDS3815.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.350509|5.350509	0.95830|0.95830	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000;ENST00000458613|ENST00000505308	D|.	0.83250|.	-1.7|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78253|0.78253	0.4254|0.4254	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.961|.	T|T	0.75875|0.75875	-0.3163|-0.3163	10|5	0.87932|.	D|.	0|.	.|.	20.4238|20.4238	0.99064|0.99064	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	165;388|.	B4DIB4;Q86SF2|.	.;GALT7_HUMAN|.	S|C	388;165|184	ENSP00000265000:A388S|.	ENSP00000265000:A388S|.	A|W	+|+	1|3	0|0	GALNT7|GALNT7	174459786|174459786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.869000|9.869000	0.99810|0.99810	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GCT|TGG	GALNT7	-	NULL	ENSG00000109586		0.438	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	-	0	59	0	G	NM_017423		174223211	1	tier1	-	no_errors	ENST00000265000	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	174223211	G	T	174223211	3	4	86	1	0	0	0	0	1	0	0	0	6243	1203	42	3	1188	3	GALNT7	4	174223211	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	19681215	174223211	16931065	66	22942											
WWC2	80014	genome.wustl.edu	37	chr4	184182451	184182451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctccttgtctcctccaGgctctcccttggttttggaa	3	17	7	14	0	2	0	0	0	2	0	7	1	5	1	5	3	0	2	5	3	1	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr4:184182451G>T	ENST00000403733.3	+	11	1874	c.1675G>T	c.(1675-1677)Ggc>Tgc	p.G559C	WWC2_ENST00000378925.3_Missense_Mutation_p.G461C|WWC2_ENST00000513834.1_Missense_Mutation_p.G559C|WWC2_ENST00000504005.1_Missense_Mutation_p.G241C|WWC2_ENST00000448232.2_Missense_Mutation_p.G559C	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	559					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTCTCCTCCAGGCTCTCCCTT	0.562																																																	0													104	76	86					4																	184182451		2203	4300	6503	SO:0001583	missense	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1675G>T	4.37:g.184182451G>T	ENSP00000384222:p.Gly559Cys		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.G559C	ENST00000403733.3	37	c.1675	CCDS34109.2	4	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150525	0.57151	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.11063	3.57;2.81;3.62;3.45;3.46	5.07	3.31	0.37934	.	0.228496	0.38548	N	0.001648	T	0.14013	0.0339	L	0.28556	0.865	0.48571	D	0.999676	D;B	0.71674	0.998;0.17	P;B	0.56700	0.804;0.067	T	0.10474	-1.0628	10	0.21540	T	0.41	-14.8862	11.4905	0.50379	0.1469:0.0:0.8531:0.0	.	559;559	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	C	559;461;559;559;241	ENSP00000384222:G559C;ENSP00000368205:G461C;ENSP00000425054:G559C;ENSP00000398577:G559C;ENSP00000427569:G241C	ENSP00000368205:G461C	G	+	1	0	WWC2	184419445	1.000000	0.71417	0.926000	0.36857	0.997000	0.91878	4.644000	0.61397	1.373000	0.46208	0.650000	0.86243	GGC	WWC2	-	NULL	ENSG00000151718		0.562	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	-	0	48	0	G	NM_024949		184182451	1	tier1	-	no_errors	ENST00000448232	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.952	T	T	184182451	G	T	184182451	3	4	86	1	0	0	0	0	1	0	0	0	17461	1000	35	3	1717	3	WWC2	4	184182451	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	9959240	184182451	6971825	67	22943											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5232548	5232548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacccatggccactggtCggactggtcttcttggtccc	4	10	11	16	1	2	0	0	0	2	0	4	1	3	1	4	5	0	0	4	5	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:5232548C>T	ENST00000274181.7	+	12	1907	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	590	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGCCACTGGTCGGACTGGTCT	0.532																																																	0													95	111	105					5																	5232548		2105	4228	6333	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1769C>T	5.37:g.5232548C>T	ENSP00000274181:p.Ser590Leu		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S590L	ENST00000274181.7	37	c.1769	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937384	0.92458	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.60920	0.15	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	D	0.83353	0.5236	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.963;0.964	D	0.89056	0.3459	10	0.87932	D	0	.	17.4795	0.87669	0.0:1.0:0.0:0.0	.	590;590	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	L	590	ENSP00000274181:S590L	ENSP00000274181:S590L	S	+	2	0	ADAMTS16	5285548	1.000000	0.71417	0.971000	0.41717	0.786000	0.44442	7.442000	0.80503	2.418000	0.82041	0.491000	0.48974	TCG	ADAMTS16	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145536		0.532	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	66	0	C	NM_139056		5232548	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	missense	18.33	49	11	SNP	1.000	T	T	5232548	C	T	5232548	3	4	86	1	0	0	0	0	1	0	0	0	261	893	31	1	1815	1	ADAMTS16	5	5232548	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09		5232548	175682712	68	22944											
CDH12	1010	genome.wustl.edu	37	chr5	21760691	21760691	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagtcacgaactgtaaaatTtggtttgatagcagcctcag	13	11	10	7	1	2	1	2	1	0	0	2	3	2	1	1	1	3	3	1	1	5	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:21760691T>G	ENST00000382254.1	-	13	2695	c.1609A>C	c.(1609-1611)Aat>Cat	p.N537H	CDH12_ENST00000504376.2_Missense_Mutation_p.N537H|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.N497H|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTGTAAAATTTGGTTTGATA	0.383										HNSCC(59;0.17)																																							0													132	138	136					5																	21760691		2203	4300	6503	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1609A>C	5.37:g.21760691T>G	ENSP00000371689:p.Asn537His		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N537H	ENST00000382254.1	37	c.1609	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051557	0.75960	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52754	0.65;0.65;0.65	5.19	5.19	0.71726	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	M	0.64630	1.985	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	D;D	0.87578	0.976;0.998	T	0.65639	-0.6119	10	0.42905	T	0.14	.	15.3511	0.74389	0.0:0.0:0.0:1.0	.	497;537	B7Z2U6;P55289	.;CAD12_HUMAN	H	537;537;497	ENSP00000423577:N537H;ENSP00000371689:N537H;ENSP00000428786:N497H	ENSP00000371689:N537H	N	-	1	0	CDH12	21796448	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.628000	0.83189	2.081000	0.62600	0.528000	0.53228	AAT	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	55	0	T	NM_004061		21760691	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	12.33	64	9	SNP	1.000	G	G	21760691	T	G	21760691	3	3	86	1	0	0	0	0	1	0	0	0	3105	1841	64	4	787	4	CDH12	5	21760691	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	16528143	21760691	159154569	69	22945											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33588775	33588775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggaaaggagggtcttggGcttcagcaggtgctggcagt	8	8	18	7	0	2	0	1	0	1	0	2	2	2	2	0	6	2	5	0	6	1	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:33588775G>T	ENST00000504830.1	-	18	3129	c.2794C>A	c.(2794-2796)Ccc>Acc	p.P932T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P847T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	932	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGGTCTTGGGCTTCAGCAGG	0.637										HNSCC(64;0.19)																																							0													142	144	143					5																	33588775		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2794C>A	5.37:g.33588775G>T	ENSP00000422554:p.Pro932Thr		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P932T	ENST00000504830.1	37	c.2794	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.223955	0.95139	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.63255	-0.03;-0.03	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.957	D	0.92708	0.6180	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	847;932	P58397-3;P58397	.;ATS12_HUMAN	T	932;847	ENSP00000422554:P932T;ENSP00000344847:P847T	ENSP00000344847:P847T	P	-	1	0	ADAMTS12	33624532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.718000	0.98758	2.894000	0.99253	0.591000	0.81541	CCC	ADAMTS12	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000151388		0.637	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	53	0	G	NM_030955		33588775	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	33588775	G	T	33588775	3	4	86	1	0	0	0	0	1	0	0	0	257	1203	42	3	2018	3	ADAMTS12	5	33588775	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	11828084	33588775	147326485	70	22946											
FBXL17	64839	genome.wustl.edu	37	chr5	107521860	107521860	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagagattgagagagctaAgatttttgcacctcttgaca	13	11	10	7	0	1	5	0	2	1	3	1	8	1	5	1	0	2	2	1	0	1	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:107521860A>C	ENST00000542267.1	-	6	2109	c.1703T>G	c.(1702-1704)cTt>cGt	p.L568R	FBXL17_ENST00000359660.5_Missense_Mutation_p.L170R|FBXL17_ENST00000496714.1_Missense_Mutation_p.L170R	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	568										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GAGAGAGCTAAGATTTTTGCA	0.348																																																	0													95	90	92					5																	107521860		2202	4300	6502	SO:0001583	missense	0			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"F-boxes / Leucine-rich repeats"	13615	protein-coding gene	gene with protein product		609083	"F-box only protein 13"	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1703T>G	5.37:g.107521860A>C	ENSP00000437464:p.Leu568Arg		A1A4E3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.L568R	ENST00000542267.1	37	c.1703	CCDS54886.1	5	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068446	0.76301	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.55234	0.53;0.53;0.53	5.46	4.29	0.51040	.	0.143577	0.47455	D	0.000224	T	0.63768	0.2539	L	0.48642	1.525	0.49483	D	0.999792	D;D	0.76494	0.999;0.999	D;D	0.72075	0.946;0.976	T	0.65393	-0.6179	10	0.87932	D	0	.	11.3604	0.49640	0.9284:0.0:0.0716:0.0	.	568;170	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	R	170;568;170	ENSP00000352683:L170R;ENSP00000437464:L568R;ENSP00000418111:L170R	ENSP00000352683:L170R	L	-	2	0	FBXL17	107549759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.832000	0.92079	0.996000	0.38943	0.482000	0.46254	CTT	FBXL17	-	NULL	ENSG00000145743		0.348	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL17	HGNC	protein_coding		-	0	100	0	A			107521860	-1	tier1	-	no_errors	ENST00000542267	ensembl	human	known	74_37	missense	18.29	67	15	SNP	1.000	C	C	107521860	A	C	107521860	3	2	86	1	0	0	0	0	1	0	0	0	5735	72	3	4	418	4	FBXL17	5	107521860	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	73933085	107521860	73393400	71	22947											
PGGT1B	5229	genome.wustl.edu	37	chr5	114557680	114557680	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacccatcagacatagtgaGgcaatgccacaaaaagttga	16	8	8	9	0	1	3	1	2	0	1	1	3	1	3	2	1	2	2	2	1	5	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:114557680G>T	ENST00000419445.1	-	7	704	c.684C>A	c.(682-684)gcC>gcA	p.A228A	PGGT1B_ENST00000514178.1_5'UTR|PGGT1B_ENST00000379615.3_Intron	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	228					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		GACATAGTGAGGCAATGCCAC	0.343																																																	0													90	86	87					5																	114557680		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.684C>A	5.37:g.114557680G>T			Q5MJP9	Silent	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.A228	ENST00000419445.1	37	c.684	CCDS4116.1	5																																																																																			PGGT1B	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000164219		0.343	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGGT1B	HGNC	protein_coding	OTTHUMT00000250855.2	-	0	54	0	G	NM_005023		114557680	-1	tier1	-	no_errors	ENST00000419445	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.891	T	T	114557680	G	T	114557680	2	4	86	1	0	0	0	0	0	0	0	1	11828	987	35	3		3	PGGT1B	5	114557680	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	7035820	114557680	66357580	72	22948											
SRFBP1	153443	genome.wustl.edu	37	chr5	121330324	121330324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacatagtaactaaatctGctcttggtgatgatatcaac	13	13	7	8	0	3	3	1	3	2	0	3	3	3	3	0	1	3	2	0	1	6	5	rs199655581		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:121330324G>T	ENST00000339397.4	+	4	301	c.229G>T	c.(229-231)Gct>Tct	p.A77S		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AACTAAATCTGCTCTTGGTGA	0.264																																																	0								G	SER/ALA	2,3572		0,2,1785	54	53	53		229	5.7	1	5		53	3,8075		0,3,4036	yes	missense	SRFBP1	NM_152546.2	99	0,5,5821	TT,TG,GG		0.0371,0.056,0.0429	probably-damaging	77/430	121330324	5,11647	1787	4039	5826	SO:0001583	missense	0			AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"BUD22 homolog (S. cerevisiae)"	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.229G>T	5.37:g.121330324G>T	ENSP00000341324:p.Ala77Ser			Missense_Mutation	SNP	pfam_Bud-site_select_BUD22	p.A77S	ENST00000339397.4	37	c.229	CCDS43354.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303032	0.81136	5.6E-4	3.71E-4	ENSG00000151304	ENST00000339397	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.75264	2.295	0.51482	D	0.999926	D	0.89917	1.0	D	0.80764	0.994	T	0.80303	-0.1439	9	0.87932	D	0	-18.4422	15.6262	0.76859	0.0:0.0:1.0:0.0	.	77	Q8NEF9	SRFB1_HUMAN	S	77	.	ENSP00000341324:A77S	A	+	1	0	SRFBP1	121358223	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.824000	0.62701	2.833000	0.97629	0.585000	0.79938	GCT	SRFBP1	-	NULL	ENSG00000151304		0.264	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRFBP1	HGNC	protein_coding	OTTHUMT00000371200.1		0	58	0	G	NM_152546		121330324	1			no_errors	ENST00000339397	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	121330324	G	T	121330324	3	4	86	1	0	0	0	0	1	0	0	0	15191	1319	46	3	243	3	SRFBP1	5	121330324	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	6772644	121330324	59584936	73	22949											
KIF3A	11127	genome.wustl.edu	37	chr5	132039180	132039180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaagaagatctttttcccGtttctctaattcagctctag	9	18	5	9	1	4	2	1	0	3	2	6	2	5	2	1	0	1	2	1	0	4	8			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:132039180G>A	ENST00000378746.4	-	10	1578	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	KIF3A_ENST00000378735.1_Missense_Mutation_p.R457W|KIF3A_ENST00000487055.1_5'UTR|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R481W	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	454					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTTTTCCCGTTTCTCTAAT	0.323																																																	0													123	119	120					5																	132039180		2201	4299	6500	SO:0001583	missense	0			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1360C>T	5.37:g.132039180G>A	ENSP00000368020:p.Arg454Trp		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R457W	ENST00000378746.4	37	c.1369	CCDS34235.1	5	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817788	0.71028	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231	T;T;T	0.73469	-0.73;3.63;-0.75	5.64	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.78049	2.395	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;P;D	0.71414	0.973;0.973;0.803;0.973	D	0.86195	0.1615	10	0.87932	D	0	.	13.576	0.61875	0.0:0.0:0.7318:0.2681	.	481;481;454;480	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	W	454;457;481;481	ENSP00000368020:R454W;ENSP00000368009:R457W;ENSP00000385808:R481W	ENSP00000368009:R457W	R	-	1	2	KIF3A	132067079	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.845000	0.55880	2.816000	0.96949	0.561000	0.74099	CGG	KIF3A	-	NULL	ENSG00000131437		0.323	KIF3A-001	KNOWN	basic|CCDS	protein_coding	KIF3A	HGNC	protein_coding	OTTHUMT00000132788.3	-	0	30	0	G	NM_007054		132039180	-1	tier1	-	no_errors	ENST00000378735	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A	A	132039180	G	A	132039180	3	1	86	1	0	0	0	0	1	0	0	0	8327	1144	40	1	771	1	KIF3A	5	132039180	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	10708856	132039180	48876080	74	22950											
KIF20A	10112	genome.wustl.edu	37	chr5	137522914	137522914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggtttctgccaaaaagCgccttggtaccaaccaggaa	12	7	10	12	1	1	0	0	0	1	0	1	1	1	1	5	3	4	2	5	3	5	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:137522914C>T	ENST00000394894.3	+	19	2711	c.2485C>T	c.(2485-2487)Cgc>Tgc	p.R829C	KIF20A_ENST00000508792.1_Missense_Mutation_p.R811C	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	829	Globular. {ECO:0000255}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCCAAAAAGCGCCTTGGTAC	0.478																																																	0													96	92	93					5																	137522914		2203	4300	6503	SO:0001583	missense	0			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"Kinesins"	9787	protein-coding gene	gene with protein product		605664	"RAB6 interacting, kinesin-like (rabkinesin6)"	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.2485C>T	5.37:g.137522914C>T	ENSP00000378356:p.Arg829Cys		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R829C	ENST00000394894.3	37	c.2485	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339718	0.81911	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.72394	-0.58;-0.65	5.53	5.53	0.82687	.	0.000000	0.43416	D	0.000580	T	0.81446	0.4824	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.64506	0.926;0.65	T	0.82329	-0.0511	10	0.87932	D	0	-11.133	19.8407	0.96681	0.0:1.0:0.0:0.0	.	811;829	B4DL79;O95235	.;KI20A_HUMAN	C	829;811	ENSP00000378356:R829C;ENSP00000420880:R811C	ENSP00000378356:R829C	R	+	1	0	KIF20A	137550813	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.660000	0.54496	2.763000	0.94921	0.563000	0.77884	CGC	KIF20A	-	NULL	ENSG00000112984		0.478	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	-	0	23	0	C	NM_005733		137522914	1	tier1	-	no_errors	ENST00000394894	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	T	T	137522914	C	T	137522914	3	4	86	1	0	0	0	0	1	0	0	0	8313	768	27	1	2555	1	KIF20A	5	137522914	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	5483734	137522914	43392346	75	22951											
CXXC5	51523	genome.wustl.edu	37	chr5	139060236	139060236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagagtgcagtggtggctgCcgccgcaccagcctcagtgg	7	6	15	13	2	1	1	1	0	0	1	1	1	1	1	4	3	3	3	4	3	1	0	rs201076972		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:139060236C>T	ENST00000302517.3	+	2	842	c.128C>T	c.(127-129)gCc>gTc	p.A43V	CXXC5_ENST00000511048.1_Missense_Mutation_p.A43V	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	43					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGGCTGCCGCCGCACCA	0.652																																																	0													18	32	27					5																	139060236		2116	4201	6317	SO:0001583	missense	0			AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.128C>T	5.37:g.139060236C>T	ENSP00000302543:p.Ala43Val		B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A43V	ENST00000302517.3	37	c.128	CCDS43370.1	5	.	.	.	.	.	.	.	.	.	.	C	8.171	0.791696	0.16258	.	.	ENSG00000171604	ENST00000502295;ENST00000504944;ENST00000302517;ENST00000504844;ENST00000502336;ENST00000520967;ENST00000511048;ENST00000512816;ENST00000509238;ENST00000502716;ENST00000503511;ENST00000511457	.	.	.	4.38	3.5	0.40072	.	1.600890	0.03402	N	0.203478	T	0.27524	0.0676	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.16958	-1.0385	9	0.42905	T	0.14	2.0176	8.0272	0.30444	0.0:0.8885:0.0:0.1115	.	43	Q7LFL8	CXXC5_HUMAN	V	43	.	ENSP00000302543:A43V	A	+	2	0	CXXC5	139040420	0.001000	0.12720	0.005000	0.12908	0.117000	0.20001	1.192000	0.32150	1.187000	0.43000	0.561000	0.74099	GCC	CXXC5	-	NULL	ENSG00000171604		0.652	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC5	HGNC	protein_coding	OTTHUMT00000372744.1		0	56	0	C	NM_016463		139060236	1			no_errors	ENST00000302517	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.017	T	T	139060236	C	T	139060236	3	4	86	1	0	0	0	0	1	0	0	0	4108	739	26	3	130	3	CXXC5	5	139060236	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1537322	139060236	41855024	76	22952											
PSD2	84249	genome.wustl.edu	37	chr5	139219650	139219650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagaataagttgaggcaGctgactgcggagctggccga	11	7	15	8	2	0	3	0	3	0	1	0	6	0	4	1	3	3	4	1	3	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:139219650G>T	ENST00000274710.3	+	14	2212	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	669					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGAGGCAGCTGACTGCGG	0.552																																																	0													104	95	98					5																	139219650		2203	4300	6503	SO:0001583	missense	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2007G>T	5.37:g.139219650G>T	ENSP00000274710:p.Gln669His		D3DQD3|Q8N3J8	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.Q669H	ENST00000274710.3	37	c.2007	CCDS4216.1	5	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035500	0.54896	.	.	ENSG00000146005	ENST00000274710	T	0.12984	2.63	4.95	3.15	0.36227	.	0.000000	0.85682	D	0.000000	T	0.13884	0.0336	L	0.60845	1.875	0.48696	D	0.999698	B	0.27882	0.192	B	0.30646	0.118	T	0.04840	-1.0923	10	0.51188	T	0.08	.	5.8332	0.18593	0.2303:0.139:0.6307:0.0	.	669	Q9BQI7	PSD2_HUMAN	H	669	ENSP00000274710:Q669H	ENSP00000274710:Q669H	Q	+	3	2	PSD2	139199834	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	3.868000	0.56055	0.599000	0.29845	0.561000	0.74099	CAG	PSD2	-	NULL	ENSG00000146005		0.552	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1	-	0	39	0	G	NM_032289		139219650	1	tier1	-	no_errors	ENST00000274710	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	139219650	G	T	139219650	3	4	86	1	0	0	0	0	1	0	0	0	12689	962	34	3	2057	3	PSD2	5	139219650	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	159414	139219650	41695610	77	22953											
PCDHA5	56143	genome.wustl.edu	37	chr5	140203227	140203227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgcatcccgttccgcGtggggctgtacacaggcgag	5	7	16	13	6	0	0	0	0	0	0	2	1	2	0	2	3	2	4	2	3	1	2	rs138093911		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:140203227G>A	ENST00000529859.1	+	1	1867	c.1867G>A	c.(1867-1869)Gtg>Atg	p.V623M	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V623M|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V623M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTTCCGCGTGGGGCTGTA	0.642																																																	0								G	,,,,MET/VAL,,MET/VAL	0,4406		0,0,2203	76	79	78		,,,,1867,,1867	3	1	5	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,21,,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,	,,,,623/937,,623/817	140203227	1,13005	2203	4300	6503	SO:0001583	missense	0			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"Cadherins / Protocadherins : Clustered"	8671	other	complex locus constituent	"ortholog of mouse CNR6", "KIAA0345-like 9"	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1867G>A	5.37:g.140203227G>A	ENSP00000436557:p.Val623Met		O75284|Q8N4R3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V623M	ENST00000529859.1	37	c.1867	CCDS54917.1	5	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280338	0.40294	0.0	1.16E-4	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.59502	0.26;0.26;0.26	3.87	2.97	0.34412	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72875	0.3515	M	0.79123	2.44	0.24027	N	0.996123	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.975;0.958;0.973	T	0.59820	-0.7382	9	0.87932	D	0	.	9.4131	0.38505	0.1023:0.0:0.8977:0.0	.	623;623;623	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	M	623	ENSP00000433416:V623M;ENSP00000436557:V623M;ENSP00000367366:V623M	ENSP00000367366:V623M	V	+	1	0	PCDHA5	140183411	0.315000	0.24571	1.000000	0.80357	0.815000	0.46073	0.653000	0.24902	1.887000	0.54652	0.306000	0.20318	GTG	PCDHA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204965		0.642	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA5	HGNC	protein_coding	OTTHUMT00000372883.2	-	0	136	0	G	NM_018908		140203227	1	tier1	rs138093911	no_errors	ENST00000529859	ensembl	human	known	74_37	missense	13.11	105	16	SNP	1.000	A	A	140203227	G	A	140203227	3	1	86	1	0	0	0	0	1	0	0	0	11566	1145	40	1	1869	1	PCDHA5	5	140203227	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	983577	140203227	40712033	78	22954											
PCDHB6	56130	genome.wustl.edu	37	chr5	140530327	140530327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgatttagacaccggcagCaacggccttcagaggtacac	12	6	10	13	3	1	2	1	0	0	2	1	3	1	2	2	3	3	3	2	3	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:140530327C>A	ENST00000231136.1	+	1	489	c.489C>A	c.(487-489)agC>agA	p.S163R	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S27R	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCGGCAGCAACGGCCTTC	0.498																																																	0													152	162	159					5																	140530327		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.489C>A	5.37:g.140530327C>A	ENSP00000231136:p.Ser163Arg		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S163R	ENST00000231136.1	37	c.489	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	3.620	-0.077699	0.07184	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.51817	0.69;0.69	4.7	2.85	0.33270	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37489	0.1005	L	0.35793	1.09	0.24520	N	0.99417	B	0.30664	0.289	B	0.40477	0.33	T	0.35549	-0.9784	9	0.20046	T	0.44	.	2.7049	0.05159	0.1512:0.5425:0.1464:0.16	.	163	Q9Y5E3	PCDB6_HUMAN	R	27;163	ENSP00000438466:S27R;ENSP00000231136:S163R	ENSP00000231136:S163R	S	+	3	2	PCDHB6	140510511	0.000000	0.05858	0.996000	0.52242	0.746000	0.42486	-3.140000	0.00586	0.476000	0.27440	0.561000	0.74099	AGC	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.498	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0	34	0	C	NM_018939		140530327	1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.958	A	A	140530327	C	A	140530327	3	1	86	1	0	0	0	0	1	0	0	0	11585	709	25	3	491	3	PCDHB6	5	140530327	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	327100	140530327	40384933	79	22955											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178634684	178634684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggacgcccagggcgcGgctgaggctgtccaggctgt	5	7	16	13	3	1	1	0	1	1	0	2	2	2	2	2	5	0	3	2	5	1	1	rs140045997		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr5:178634684G>A	ENST00000251582.7	-	4	822	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.R241C	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	241			R -> H (in dbSNP:rs11750821).		collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCCAGGGCGCGGCTGAGGCTG	0.667																																																	0								G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	68	62	64		721,721	2.3	0.6	5	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ADAMTS2	NM_014244.4,NM_021599.2	180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	241/1212,241/567	178634684	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.721C>T	5.37:g.178634684G>A	ENSP00000251582:p.Arg241Cys			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.R241C	ENST00000251582.7	37	c.721	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857838	0.32791	0.0	2.33E-4	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.62498	0.09;0.02	5.49	2.34	0.29019	.	1.174200	0.06781	N	0.785253	T	0.45498	0.1345	L	0.36672	1.1	0.29193	N	0.875726	P;P	0.51653	0.851;0.947	B;B	0.34452	0.176;0.183	T	0.41161	-0.9524	10	0.36615	T	0.2	.	6.7106	0.23274	0.0932:0.0:0.3672:0.5396	.	241;241	O95450-2;O95450	.;ATS2_HUMAN	C	241	ENSP00000251582:R241C;ENSP00000274609:R241C	ENSP00000251582:R241C	R	-	1	0	ADAMTS2	178567290	0.364000	0.24997	0.601000	0.28877	0.023000	0.10783	0.532000	0.23067	0.656000	0.30886	0.561000	0.74099	CGC	ADAMTS2	-	prints_Pept_M12B_ADAM-TS2	ENSG00000087116		0.667	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	91	0	G	NM_014244		178634684	-1	tier1	rs140045997	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	26.83	60	22	SNP	0.470	A	A	178634684	G	A	178634684	3	1	86	1	0	0	0	0	1	0	0	0	265	1116	39	1	3065	1	ADAMTS2	5	178634684	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	38104357	178634684	2280576	80	22956											
SIRT5	23408	genome.wustl.edu	37	chr6	13595764	13595764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggctgagaattacaaGagtccaatttgtccagcttt	10	14	10	7	0	0	2	0	1	0	2	2	3	2	2	2	1	2	3	2	1	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:13595764G>T	ENST00000606117.1	+	6	827	c.531G>T	c.(529-531)aaG>aaT	p.K177N	SIRT5_ENST00000359782.3_Missense_Mutation_p.K177N|SIRT5_ENST00000397350.2_Missense_Mutation_p.K69N|SIRT5_ENST00000379262.4_Missense_Mutation_p.K177N	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGAATTACAAGAGTCCAATTT	0.343																																																	0													178	174	175					6																	13595764		2203	4300	6503	SO:0001583	missense	0			AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5", "sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.531G>T	6.37:g.13595764G>T	ENSP00000476228:p.Lys177Asn			Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.K177N	ENST00000606117.1	37	c.531	CCDS4526.1	6	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270538	0.23221	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.78	2.85	0.33270	.	0.188959	0.56097	D	0.000040	T	0.09905	0.0243	N	0.13272	0.32	0.44136	D	0.996922	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.06752	-1.0809	10	0.27785	T	0.31	-24.9844	6.7256	0.23355	0.1806:0.2562:0.5631:0.0	.	177;177;177	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	N	177;177;69;177	ENSP00000352830:K177N;ENSP00000368564:K177N;ENSP00000380509:K69N;ENSP00000368552:K177N	ENSP00000352830:K177N	K	+	3	2	SIRT5	13703743	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.791000	0.26915	1.412000	0.46977	0.585000	0.79938	AAG	SIRT5	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000124523		0.343	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT5	HGNC	protein_coding	OTTHUMT00000039908.2	-	0	45	0	G			13595764	1	tier1	-	no_errors	ENST00000606117	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	13595764	G	T	13595764	3	4	86	1	0	0	0	0	1	0	0	0	14386	933	33	3	545	3	SIRT5	6	13595764	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		13595764	157519303	81	22957											
LRRC16A	55604	genome.wustl.edu	37	chr6	25606315	25606315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcacccaggtcttccaGagaaccgctttggtttggga	9	10	11	11	1	1	1	0	0	1	1	2	3	2	2	3	3	3	3	3	3	2	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:25606315G>A	ENST00000329474.6	+	35	4029	c.3661G>A	c.(3661-3663)Gag>Aag	p.E1221K		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1221					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGGTCTTCCAGAGAACCGCTT	0.468																																																	0													48	52	51					6																	25606315		1868	4092	5960	SO:0001583	missense	0			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"	609593	"leucine rich repeat containing 16"	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3661G>A	6.37:g.25606315G>A	ENSP00000331983:p.Glu1221Lys		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1221K	ENST00000329474.6	37	c.3661	CCDS54973.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.644092|3.644092	0.67244|0.67244	.|.	.|.	ENSG00000079691|ENSG00000079691	ENST00000399313|ENST00000329474	.|T	.|0.20332	.|2.08	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.365828	.|0.26582	.|N	.|0.023580	.|T	.|0.30198	.|0.0757	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;B;P	.|0.69078	.|0.997;0.163;0.628	.|D;B;B	.|0.67231	.|0.95;0.024;0.254	.|T	.|0.06770	.|-1.0808	.|10	.|0.06625	.|T	.|0.88	.|-26.6018	20.1649|20.1649	0.98147|0.98147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1221;1215;1176	.|Q5VZK9;B2RTQ5;Q5VZK9-2	.|LR16A_HUMAN;.;.	.|K	-1|1221	.|ENSP00000331983:E1221K	.|ENSP00000331983:E1221K	.|E	+|+	.|1	.|0	LRRC16A|LRRC16A	25714294|25714294	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	6.775000|6.775000	0.75018|0.75018	2.753000|2.753000	0.94483|0.94483	0.655000|0.655000	0.94253|0.94253	.|GAG	LRRC16A	-	NULL	ENSG00000079691		0.468	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	HGNC	protein_coding	OTTHUMT00000040045.2	-	0	61	0	G	NM_017640		25606315	1	tier1	-	no_errors	ENST00000329474	ensembl	human	novel	74_37	missense	6.90	54	4	SNP	1.000	A	A	25606315	G	A	25606315	3	1	86	1	0	0	0	0	1	0	0	0	9006	943	33	3	3799	3	LRRC16A	6	25606315	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	12010551	25606315	145508752	82	22958											
GABBR1	2550	genome.wustl.edu	37	chr6	29574700	29574700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccggtgcagagggtccaCgatctgccagatggcgagag	8	6	17	10	3	1	3	0	0	1	3	3	5	3	3	3	4	2	1	3	4	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:29574700C>T	ENST00000377034.4	-	18	2526	c.2191G>A	c.(2191-2193)Gtg>Atg	p.V731M	GABBR1_ENST00000355973.3_Missense_Mutation_p.V614M|GABBR1_ENST00000377012.4_Missense_Mutation_p.V614M|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.V669M	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	731					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	AGAGGGTCCACGATCTGCCAG	0.592																																																	0													85	72	77					6																	29574700		1511	2709	4220	SO:0001583	missense	0			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2191G>A	6.37:g.29574700C>T	ENSP00000366233:p.Val731Met		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.V731M	ENST00000377034.4	37	c.2191	CCDS4663.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.713722|1.713722	0.30413|0.30413	.|.	.|.	ENSG00000204681|ENSG00000204681	ENST00000485026|ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	.|D;D;D;D	.|0.89415	.|-2.51;-2.51;-2.51;-2.51	4.35|4.35	3.48|3.48	0.39840|0.39840	.|GPCR, family 3, C-terminal (2);	.|0.143153	.|0.47455	.|N	.|0.000238	T|T	0.78591|0.78591	0.4307|0.4307	L|L	0.58669|0.58669	1.825|1.825	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.46987	.|0.888;0.886;0.886	.|B;B;B	.|0.38156	.|0.225;0.266;0.266	T|T	0.78959|0.78959	-0.1998|-0.1998	5|10	.|0.54805	.|T	.|0.06	-10.5065|-10.5065	10.2994|10.2994	0.43644|0.43644	0.0:0.9008:0.0:0.0992|0.0:0.9008:0.0:0.0992	.|.	.|669;731;614	.|Q9UBS5-3;Q9UBS5;Q5SUJ9	.|.;GABR1_HUMAN;.	H|M	111|614;669;614;731	.|ENSP00000348248:V614M;ENSP00000366215:V669M;ENSP00000366211:V614M;ENSP00000366233:V731M	.|ENSP00000348248:V614M	R|V	-|-	2|1	0|0	GABBR1|GABBR1	29682679|29682679	0.999000|0.999000	0.42202|0.42202	0.964000|0.964000	0.40570|0.40570	0.422000|0.422000	0.31414|0.31414	4.286000|4.286000	0.58995|0.58995	0.949000|0.949000	0.37715|0.37715	-0.253000|-0.253000	0.11424|0.11424	CGT|GTG	GABBR1	-	pfam_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C	ENSG00000204681		0.592	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	-	0	53	0	C			29574700	-1	tier1	-	no_errors	ENST00000377034	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.994	T	T	29574700	C	T	29574700	3	4	86	1	0	0	0	0	1	0	0	0	6179	536	19	1	718	1	GABBR1	6	29574700	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	3968385	29574700	141540367	83	22959											
MICA	100507436	genome.wustl.edu	37	chr6	31379008	31379008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagagctcagaccttggCcatgaacgtcaggaatttct	10	10	9	12	1	3	3	2	1	1	2	4	4	4	4	3	2	2	1	3	2	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:31379008C>T	ENST00000449934.2	+	3	539	c.485C>T	c.(484-486)gCc>gTc	p.A162V	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGACCTTGGCCATGAACGTC	0.517																																																	0													102	88	93					6																	31379008		692	1591	2283	SO:0001583	missense	0			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.485C>T	6.37:g.31379008C>T	ENSP00000413079:p.Ala162Val			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A162V	ENST00000449934.2	37	c.485	CCDS56412.1	6	.	.	.	.	.	.	.	.	.	.	N	13.47	2.246436	0.39697	.	.	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934	T	0.05717	3.4	1.41	0.503	0.16940	.	0.000000	0.36665	N	0.002461	T	0.07098	0.0180	M	0.81942	2.565	0.09310	N	1	D	0.60575	0.988	P	0.55345	0.774	T	0.08452	-1.0721	10	0.87932	D	0	.	5.9179	0.19065	0.0:0.8092:0.0:0.1908	.	162	Q96QC4	.	V	162;119;162	ENSP00000413079:A162V	ENSP00000365394:A162V	A	+	2	0	MICA	31486987	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	1.516000	0.35856	0.186000	0.20125	0.306000	0.20318	GCC	MICA	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204520		0.517	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7	-	0	37	0	C	NM_001177519		31379008	1	tier1	-	no_errors	ENST00000449934	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.001	T	T	31379008	C	T	31379008	3	4	86	1	0	0	0	0	1	0	0	0	9606	739	26	3	495	3	MICA	6	31379008	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1804308	31379008	139736059	84	22960											
C2	717	genome.wustl.edu	37	chr6	31896637	31896637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgcggggctcgcctgtgCgtcagtgtcgccccaacggc	4	9	14	14	5	1	0	1	0	0	0	3	0	1	0	3	3	3	1	3	3	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:31896637C>T	ENST00000299367.5	+	3	661	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Missense_Mutation_p.R129C|CFB_ENST00000456570.1_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R129C|C2_ENST00000452323.2_Intron|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	129	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CTCGCCTGTGCGTCAGTGTCG	0.582																																																	0													104	90	94					6																	31896637		2203	4300	6503	SO:0001583	missense	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.385C>T	6.37:g.31896637C>T	ENSP00000299367:p.Arg129Cys		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	pfam_VWF_A,pfam_Peptidase_S1,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R129C	ENST00000299367.5	37	c.385	CCDS4728.1	6	.	.	.	.	.	.	.	.	.	.	C	16.38	3.105890	0.56291	.	.	ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000244255	ENST00000413154;ENST00000299367;ENST00000418949;ENST00000477310	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.6	2.4	0.29515	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.34435	N	0.003975	T	0.72070	0.3415	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;0.999	T	0.77332	-0.2627	9	0.87932	D	0	-20.7336	12.8872	0.58051	0.4841:0.5159:0.0:0.0	.	100;129;129	B4DV48;P06681;Q8N6L6	.;CO2_HUMAN;.	C	129	ENSP00000403325:R129C;ENSP00000299367:R129C;ENSP00000406190:R129C;ENSP00000418996:R129C	ENSP00000299367:R129C	R	+	1	0	C2;XXbac-BPG116M5.17	32004616	0.987000	0.35691	0.697000	0.30258	0.594000	0.36715	0.845000	0.27668	0.675000	0.31264	0.491000	0.48974	CGT	C2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pirsf_Compl_C2_B,pfscan_Sushi_SCR_CCP	ENSG00000166278		0.582	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	HGNC	protein_coding	OTTHUMT00000076379.9	-	0	35	0	C			31896637	1	tier1	-	no_errors	ENST00000299367	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.631	T	T	31896637	C	T	31896637	3	4	86	1	0	0	0	0	1	0	0	0	2081	768	27	1	472	1	C2	6	31896637	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	517629	31896637	139218430	85	22961											
COL11A2	1302	genome.wustl.edu	37	chr6	33141688	33141688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggcacctcggggtccccGctgaccccgtggaccctaca	6	6	12	17	3	0	1	0	1	0	0	2	2	1	2	6	4	1	2	6	4	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:33141688G>A	ENST00000374708.4	-	32	2545	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	COL11A2_ENST00000374713.1_Missense_Mutation_p.R802W|COL11A2_ENST00000361917.1_Missense_Mutation_p.R742W|COL11A2_ENST00000374712.1_Missense_Mutation_p.R768W|COL11A2_ENST00000374714.1_Missense_Mutation_p.R823W|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.R828W|COL11A2_ENST00000395197.1_Missense_Mutation_p.R789W|COL11A2_ENST00000341947.2_Missense_Mutation_p.R849W	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	849	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGGGGTCCCCGCTGACCCCGT	0.612																																					Melanoma(1;90 116 3946 5341 17093)												0													73	78	76					6																	33141688		2203	4300	6503	SO:0001583	missense	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2287C>T	6.37:g.33141688G>A	ENSP00000363840:p.Arg763Trp		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.R849W	ENST00000374708.4	37	c.2545	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561303	0.65538	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.6	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	M	0.91196	3.185	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.99	T	0.75651	-0.3244	10	0.87932	D	0	.	9.9522	0.41645	0.0:0.0:0.6322:0.3678	.	742;763;849	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	W	763;849;828;823;802;789;768;742	ENSP00000363840:R763W;ENSP00000339915:R849W;ENSP00000350079:R828W;ENSP00000363846:R823W;ENSP00000363845:R802W;ENSP00000378623:R789W;ENSP00000363844:R768W;ENSP00000355123:R742W	ENSP00000339915:R849W	R	-	1	2	COL11A2	33249666	0.998000	0.40836	1.000000	0.80357	0.848000	0.48234	1.526000	0.35964	1.145000	0.42336	0.448000	0.29417	CGG	COL11A2	-	pfam_Collagen	ENSG00000204248		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2		0	51	0	G			33141688	-1			no_errors	ENST00000341947	ensembl	human	known	74_37	missense	5.00	37	2	SNP	1.000	A	A	33141688	G	A	33141688	3	1	86	1	0	0	0	0	1	0	0	0	3675	1086	38	1	2797	1	COL11A2	6	33141688	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	1245051	33141688	137973379	86	22962											
DST	667	genome.wustl.edu	37	chr6	56357224	56357224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgagaatttacttcattgGcaaaaacctttcccagaaaa	16	11	6	8	0	1	2	1	1	0	2	2	4	2	2	2	1	2	1	2	1	6	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:56357224G>A	ENST00000361203.3	-	80	19605	c.19598C>T	c.(19597-19599)gCc>gTc	p.A6533V	DST_ENST00000244364.6_Missense_Mutation_p.A4230V|DST_ENST00000446842.2_Missense_Mutation_p.A6318V|DST_ENST00000370788.2_Missense_Mutation_p.A4447V|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'Flank|DST_ENST00000421834.2_Missense_Mutation_p.A4556V|DST_ENST00000370754.5_Missense_Mutation_p.A6822V|DST_ENST00000370769.4_Missense_Mutation_p.A6644V			Q03001	DYST_HUMAN	dystonin	6533					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTTCATTGGCAAAAACCTT	0.313																																																	0													73	70	71					6																	56357224		1802	4064	5866	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19598C>T	6.37:g.56357224G>A	ENSP00000354508:p.Ala6533Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A6822V	ENST00000361203.3	37	c.20465		6	.	.	.	.	.	.	.	.	.	.	G	16.84	3.232729	0.58777	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.11	5.11	0.69529	.	0.000000	0.48286	D	0.000195	T	0.19927	0.0479	N	0.02368	-0.58	0.33387	D	0.575589	B;P;P;B;B	0.40032	0.153;0.699;0.518;0.019;0.035	B;P;B;B;B	0.51806	0.095;0.68;0.349;0.015;0.034	T	0.16129	-1.0413	9	0.19147	T	0.46	.	12.2938	0.54833	0.0781:0.0:0.9219:0.0	.	4556;6644;6822;6642;4230	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	4230;6822;6644;4556;6318;4447;6533	ENSP00000244364:A4230V;ENSP00000359790:A6822V;ENSP00000359805:A6644V;ENSP00000400883:A4556V;ENSP00000393645:A6318V;ENSP00000359824:A4447V;ENSP00000354508:A6533V	ENSP00000244364:A4230V	A	-	2	0	DST	56465183	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.888000	0.69758	2.540000	0.85666	0.591000	0.81541	GCC	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.313	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3		0	48	0	G	NM_001723		56357224	-1			no_errors	ENST00000370754	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	56357224	G	A	56357224	3	1	86	1	0	0	0	0	1	0	0	0	4797	1203	42	3	2902	3	DST	6	56357224	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	23215536	56357224	114757843	87	22963											
BAI3	577	genome.wustl.edu	37	chr6	69349111	69349111	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagagctgcttaaaatcaGaaaatgggagaacagaatca	18	7	11	5	0	2	4	2	0	0	4	2	6	2	4	0	2	3	2	0	2	6	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:69349111G>C	ENST00000370598.1	+	3	1365	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	182					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTAAAATCAGAAAATGGGAG	0.428																																																	0													70	71	70					6																	69349111		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.544G>C	6.37:g.69349111G>C	ENSP00000359630:p.Glu182Gln		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E182Q	ENST00000370598.1	37	c.544	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163801	0.57476	.	.	ENSG00000135298	ENST00000370598	T	0.20463	2.07	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000002	T	0.29652	0.0740	L	0.36672	1.1	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.04165	-1.0972	10	0.72032	D	0.01	.	19.1611	0.93533	0.0:0.0:1.0:0.0	.	182	O60242	BAI3_HUMAN	Q	182	ENSP00000359630:E182Q	ENSP00000359630:E182Q	E	+	1	0	BAI3	69405832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.610000	0.88304	0.655000	0.94253	GAA	BAI3	-	NULL	ENSG00000135298		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1		0	32	0	G			69349111	1			no_errors	ENST00000370598	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	C	C	69349111	G	C	69349111	3	2	86	1	0	0	0	0	1	0	0	0	1301	943	33	5	546	5	BAI3	6	69349111	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	12991887	69349111	101765956	88	22964											
KCNQ5	56479	genome.wustl.edu	37	chr6	73332285	73332285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgtgctggagagaccccGcggctgggcgttcatctacc	7	7	13	14	4	2	1	1	0	1	1	2	3	2	2	3	3	3	3	3	3	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:73332285G>A	ENST00000370398.1	+	1	477	c.368G>A	c.(367-369)cGc>cAc	p.R123H	KCNQ5_ENST00000355635.3_Missense_Mutation_p.R123H|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R123H|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R123H|KCNQ5_ENST00000342056.2_Missense_Mutation_p.R123H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R123H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R123H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R123H	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	123					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAGAGACCCCGCGGCTGGGCG	0.662																																					GBM(142;1375 1859 14391 23261 44706)												0													29	32	31					6																	73332285		2203	4300	6503	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.368G>A	6.37:g.73332285G>A	ENSP00000359425:p.Arg123His		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R123H	ENST00000370398.1	37	c.368	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128501	0.56721	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D;D	0.99413	-5.73;-5.71;-5.69;-5.63;-5.73;-5.7;-5.73;-5.86	4.58	4.58	0.56647	.	0.096191	0.37530	N	0.002048	D	0.98626	0.9540	L	0.54965	1.715	0.52501	D	0.999956	B;P;P;P;P;P	0.46327	0.1;0.851;0.751;0.839;0.876;0.571	B;P;B;B;B;B	0.47573	0.01;0.55;0.259;0.445;0.425;0.399	D	0.99885	1.1121	10	0.72032	D	0.01	-6.4643	17.3876	0.87421	0.0:0.0:1.0:0.0	.	123;123;123;123;123;123	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82;Q9NR82-4	.;.;.;.;KCNQ5_HUMAN;.	H	123	ENSP00000345055:R123H;ENSP00000347326:R123H;ENSP00000359425:R123H;ENSP00000359419:R123H;ENSP00000385501:R123H;ENSP00000347853:R123H;ENSP00000384453:R123H;ENSP00000409861:R123H	ENSP00000345055:R123H	R	+	2	0	KCNQ5	73389006	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	9.192000	0.94947	2.109000	0.64355	0.561000	0.74099	CGC	KCNQ5	-	NULL	ENSG00000185760		0.662	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	-	0	70	0	G	NM_019842		73332285	1	tier1	-	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	17.65	56	12	SNP	1.000	A	A	73332285	G	A	73332285	3	1	86	1	0	0	0	0	1	0	0	0	8113	1087	38	1	370	1	KCNQ5	6	73332285	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	3983174	73332285	97782782	89	22965											
SYNCRIP	10492	genome.wustl.edu	37	chr6	86332363	86332363	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagcctctgttttttttcTtgtcatccggttggtggtat	6	19	9	7	1	3	0	1	0	2	0	4	0	4	0	2	3	1	3	2	3	3	7			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:86332363T>A	ENST00000369622.3	-	8	1345	c.845A>T	c.(844-846)aAg>aTg	p.K282M	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.K282M	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	282	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K282T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTTTTTTTTCTTGTCATCCGG	0.418																																																	1	Substitution - Missense(1)	lung(1)											105	109	108					6																	86332363		2203	4300	6503	SO:0001583	missense	0			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"RNA binding motif (RRM) containing"	16918	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein Q"					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.845A>T	6.37:g.86332363T>A	ENSP00000358635:p.Lys282Met		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.K282M	ENST00000369622.3	37	c.845	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954979	0.92726	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.17370	2.28;2.28	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	M	0.87971	2.92	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.849;1.0;1.0;1.0	D;D;D;P;D;D;D	0.85130	0.992;0.99;0.992;0.857;0.997;0.987;0.994	T	0.50074	-0.8870	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	282;282;184;130;282;282;282	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	M	282	ENSP00000347380:K282M;ENSP00000358635:K282M	ENSP00000347380:K282M	K	-	2	0	SYNCRIP	86389082	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.961000	0.87903	2.279000	0.76181	0.533000	0.62120	AAG	SYNCRIP	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000135316		0.418	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1		0	49	0	T	NM_006372		86332363	-1			no_errors	ENST00000369622	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	86332363	T	A	86332363	3	1	86	1	0	0	0	0	1	0	0	0	15491	1609	56	5	1088	5	SYNCRIP	6	86332363	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	13000078	86332363	84782704	90	22966											
MDN1	23195	genome.wustl.edu	37	chr6	90440489	90440489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccaaaggttatctattCcagtgaattctttggccttc	8	16	6	11	0	2	1	0	1	2	0	5	1	4	1	4	2	0	1	4	2	4	7			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:90440489C>A	ENST00000369393.3	-	35	5211	c.5096G>T	c.(5095-5097)gGa>gTa	p.G1699V	MDN1_ENST00000428876.1_Missense_Mutation_p.G1699V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1699					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTATCTATTCCAGTGAATTC	0.313																																																	0													93	87	89					6																	90440489		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5096G>T	6.37:g.90440489C>A	ENSP00000358400:p.Gly1699Val		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.G1699V	ENST00000369393.3	37	c.5096	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669254	0.29604	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03124	4.04;4.04	5.62	3.74	0.42951	.	0.259424	0.42053	D	0.000776	T	0.00875	0.0029	N	0.05078	-0.115	0.46499	D	0.999071	B	0.13594	0.008	B	0.06405	0.002	T	0.51100	-0.8748	10	0.17369	T	0.5	.	15.8307	0.78749	0.0:0.7437:0.2563:0.0	.	1699	Q9NU22	MDN1_HUMAN	V	1699	ENSP00000358400:G1699V;ENSP00000413970:G1699V	ENSP00000358400:G1699V	G	-	2	0	MDN1	90497210	0.996000	0.38824	1.000000	0.80357	0.968000	0.65278	2.777000	0.47717	1.366000	0.46076	0.585000	0.79938	GGA	MDN1	-	pirsf_Midasin	ENSG00000112159		0.313	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	71	0	C			90440489	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	90440489	C	A	90440489	3	1	86	1	0	0	0	0	1	0	0	0	9453	855	30	3	11966	3	MDN1	6	90440489	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	4108126	90440489	80674578	91	22967											
MAP3K7	6885	genome.wustl.edu	37	chr6	91261851	91261851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccaacaacgagtcatcaGgctctcaatgggcttaggta	13	8	10	10	1	3	1	3	0	1	1	4	2	3	1	1	3	2	3	1	3	5	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:91261851G>C	ENST00000369329.3	-	8	945	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.L262V|MAP3K7_ENST00000369332.3_Missense_Mutation_p.L262V|MAP3K7_ENST00000369327.3_Missense_Mutation_p.L262V	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	262	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CGAGTCATCAGGCTCTCAATG	0.413																																																	0													134	130	131					6																	91261851		2203	4300	6503	SO:0001583	missense	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.784C>G	6.37:g.91261851G>C	ENSP00000358335:p.Leu262Val		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L262V	ENST00000369329.3	37	c.784	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908812	0.72868	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.76	3.59	0.41128	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.49455	1.56	0.80722	D	1	D;D;D;D	0.71674	0.972;0.972;0.998;0.977	D;D;D;D	0.68192	0.934;0.925;0.956;0.955	T	0.44862	-0.9300	10	0.72032	D	0.01	.	4.3791	0.11284	0.4513:0.0:0.5487:0.0	.	262;262;262;262	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	V	262;262;262;262;189	ENSP00000358338:L262V;ENSP00000358335:L262V;ENSP00000358331:L262V;ENSP00000358333:L262V	ENSP00000358331:L262V	L	-	1	2	MAP3K7	91318572	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.590000	0.46154	1.546000	0.49388	0.650000	0.86243	CTG	MAP3K7	-	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135341		0.413	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	-	0	63	0	G	NM_145331		91261851	-1	tier1	-	no_errors	ENST00000369329	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	C	C	91261851	G	C	91261851	3	2	86	1	0	0	0	0	1	0	0	0	9293	991	35	5	1076	5	MAP3K7	6	91261851	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	821362	91261851	79853216	92	22968											
MANEA	79694	genome.wustl.edu	37	chr6	96044722	96044722	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcataaatataacctaaaGgtattttattttattttcaa	15	18	3	5	0	2	0	2	0	0	0	2	0	2	0	1	1	1	2	1	1	10	11			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:96044722G>T	ENST00000358812.4	+	3	788	c.654G>T	c.(652-654)aaG>aaT	p.K218N	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	218	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATAACCTAAAGGTATTTTATT	0.284																																																	0													77	76	77					6																	96044722		2203	4300	6503	SO:0001630	splice_region_variant	0			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.654+1G>T	6.37:g.96044722G>T			A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	superfamily_Glycoside_hydrolase_SF	p.K218N	ENST00000358812.4	37	c.654	CCDS5032.1	6	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726860	0.89390	.	.	ENSG00000172469	ENST00000358812	D	0.92446	-3.04	5.45	5.45	0.79879	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96326	0.9240	10	0.54805	T	0.06	-13.0923	18.2605	0.90034	0.0:0.0:1.0:0.0	.	218	Q5SRI9	MANEA_HUMAN	N	218	ENSP00000351669:K218N	ENSP00000351669:K218N	K	+	3	2	MANEA	96151443	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.200000	0.95010	2.557000	0.86248	0.573000	0.79308	AAG	MANEA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000172469		0.284	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	HGNC	protein_coding	OTTHUMT00000043644.1		0	33	0	G	NM_024641	Missense_Mutation	96044722	1			no_errors	ENST00000358812	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	96044722	G	T	96044722	5	4	86	1	0	0	0	0	0	0	1	0	9259	1014	35	3	660	3	MANEA	6	96044722	Splice_Site	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	4782871	96044722	75070345	93	22969											
KLHL32	114792	genome.wustl.edu	37	chr6	97423985	97423985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctctgcgacatcaccCtgattgctgaggaacagaaa	12	8	9	12	1	2	3	1	2	1	1	3	5	3	4	2	1	3	2	2	1	2	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:97423985C>T	ENST00000369261.4	+	3	499	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L	KLHL32_ENST00000536676.1_Silent_p.L46L|KLHL32_ENST00000544166.1_5'UTR|KLHL32_ENST00000539200.1_Silent_p.L46L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	46	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CGACATCACCCTGATTGCTGA	0.507																																																	0													101	79	86					6																	97423985		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"Kelch-like", "BTB/POZ domain containing"	21221	protein-coding gene	gene with protein product			"BTB and kelch domain containing 5", "KIAA1900", "kelch-like 32 (Drosophila)"	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.136C>T	6.37:g.97423985C>T			B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L46	ENST00000369261.4	37	c.136	CCDS5038.1	6																																																																																			KLHL32	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000186231		0.507	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	HGNC	protein_coding	OTTHUMT00000041570.1		0	49	0	C	NM_052904		97423985	1			no_errors	ENST00000369261	ensembl	human	known	74_37	silent	5.88	32	2	SNP	1.000	T	T	97423985	C	T	97423985	2	4	86	1	0	0	0	0	0	0	0	1	8413	680	24	3		3	KLHL32	6	97423985	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1379263	97423985	73691082	94	22970											
UST	10090	genome.wustl.edu	37	chr6	149208144	149208144	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattccacttacttggatgaCcatggaccacctcctagtaa	12	11	6	12	0	0	1	0	1	0	0	2	3	2	3	5	2	1	1	5	2	4	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:149208144C>T	ENST00000367463.4	+	2	373	c.270C>T	c.(268-270)gaC>gaT	p.D90D		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	90					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACTTGGATGACCATGGACCAC	0.353																																																	0													201	198	199					6																	149208144		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"Sulfotransferases, membrane-bound"	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.270C>T	6.37:g.149208144C>T			B2RCX6	Silent	SNP	pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.D90	ENST00000367463.4	37	c.270	CCDS5213.1	6																																																																																			UST	-	superfamily_P-loop_NTPase	ENSG00000111962		0.353	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UST	HGNC	protein_coding	OTTHUMT00000043363.1		0	63	0	C	NM_005715		149208144	1			no_errors	ENST00000367463	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	149208144	C	T	149208144	2	4	86	1	0	0	0	0	0	0	0	1	17142	506	18	3		3	UST	6	149208144	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	51784159	149208144	21906923	95	22971											
SYNE1	23345	genome.wustl.edu	37	chr6	152473212	152473212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggttctccctggccaggCggcggtactgcttgttgatc	3	12	14	12	3	1	1	0	1	1	0	3	1	1	1	2	5	3	4	2	5	1	4	rs201956180		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:152473212C>T	ENST00000367255.5	-	134	24795	c.24194G>A	c.(24193-24195)cGc>cAc	p.R8065H	SYNE1_ENST00000448038.1_Missense_Mutation_p.R7994H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8065H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7994H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R220H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R220H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7677H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2589H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8065					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGGCCAGGCGGCGGTACTG	0.547										HNSCC(10;0.0054)																																							0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	115	88	97		23981,24194	5.7	1	6		97	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	7994/8750,8065/8798	152473212	1,13005	2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24194G>A	6.37:g.152473212C>T	ENSP00000356224:p.Arg8065His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R8065H	ENST00000367255.5	37	c.24194	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	36	5.817958	0.96982	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.51817	1.25;0.69;0.69;1.25;1.25;1.25;1.25;0.69;0.69;0.69	5.72	5.72	0.89469	.	0.000000	0.53938	D	0.000047	T	0.68311	0.2987	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.996	T	0.71148	-0.4677	10	0.72032	D	0.01	.	19.8937	0.96942	0.0:1.0:0.0:0.0	.	8065;8065;7994;7994;267	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8065;220;711;7994;8065;7994;7677;2589;227;222;987;220	ENSP00000356224:R8065H;ENSP00000441052:R220H;ENSP00000356226:R711H;ENSP00000396024:R7994H;ENSP00000265368:R8065H;ENSP00000390975:R7994H;ENSP00000341887:R7677H;ENSP00000349276:R2589H;ENSP00000356220:R987H;ENSP00000346701:R220H	ENSP00000265368:R8065H	R	-	2	0	SYNE1	152514905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.716000	0.92895	0.650000	0.86243	CGC	SYNE1	-	superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.547	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	57	0	C	NM_182961		152473212	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	T	T	152473212	C	T	152473212	3	4	86	1	0	0	0	0	1	0	0	0	15492	768	27	1	2324	1	SYNE1	6	152473212	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	3265068	152473212	18641855	96	22972											
MLLT4	4301	genome.wustl.edu	37	chr6	168265353	168265353	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtaatcgaaacgctcgcGgagaaatttcgacctgatat	13	10	10	8	5	0	2	0	1	0	1	3	6	0	2	1	1	1	2	1	1	4	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr6:168265353G>C	ENST00000447894.2	+	2	228	c.228G>C	c.(226-228)gcG>gcC	p.A76A	MLLT4_ENST00000351017.4_Silent_p.A76A|MLLT4_ENST00000366806.2_Silent_p.A76A|MLLT4_ENST00000392112.1_Silent_p.A76A|MLLT4_ENST00000392108.3_Silent_p.A76A|MLLT4_ENST00000400822.3_Silent_p.A76A|MLLT4_ENST00000344191.4_Silent_p.A76A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	76	Ras-associating 1. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.A76A(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAACGCTCGCGGAGAAATTTC	0.433			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	4	Substitution - coding silent(4)	lung(2)|kidney(2)											181	189	187					6																	168265353		2203	4296	6499	SO:0001819	synonymous_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.228G>C	6.37:g.168265353G>C			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.A76	ENST00000447894.2	37	c.228		6																																																																																			MLLT4	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000130396		0.433	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1		0	76	0	G	NM_005936		168265353	1			no_errors	ENST00000366806	ensembl	human	known	74_37	silent	5.08	56	3	SNP	0.009	C	C	168265353	G	C	168265353	2	2	86	1	0	0	0	0	0	0	0	1	9667	1103	39	5		5	MLLT4	6	168265353	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	15792141	168265353	2849714	97	22973											
SP8	221833	genome.wustl.edu	37	chr7	20824044	20824046	+	In_Frame_Del	DEL	GCC	GCC	-																															ccgctgcccgagcccgccgaGccgccgccgccgccgccgcc																								rs367927423		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:20824044_20824046delGCC	ENST00000361443.4	-	3	1573_1575	c.1336_1338delGGC	c.(1336-1338)ggcdel	p.G446del	SP8_ENST00000418710.2_In_Frame_Del_p.G464del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	446					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						AGCCCGCCGAgccgccgccgccg	0.714																																																	0																																										SO:0001651	inframe_deletion	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.1336_1338delGGC	7.37:g.20824053_20824055delGCC	ENSP00000354482:p.Gly446del		Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.G464in_frame_del	ENST00000361443.4	37	c.1392_1390	CCDS5372.1	7																																																																																			SP8	-	NULL	ENSG00000164651		0.714	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2		0	20	0	GCC			20824046	-1	tier1		no_errors	ENST00000418710	ensembl	human	known	74_37	in_frame_del	27.27	8	3	DEL	1.000:1.000:1.000	-	-	20824046	GCC	-	20824044	7	5	86	1	0	1	0	1	0	0	0	0	15015	958	34	0	138	0	SP8	7	20824044	In_Frame_Del	DEL	GCC	TCGA-L5-A8NL-01A-12D-A37C-09		20824044	138314619	98	22974											
OSBPL3	26031	genome.wustl.edu	37	chr7	24874153	24874153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggccttgtccaggagctcGctgtactccagctcctcgca	5	9	11	16	3	0	0	0	0	0	0	5	1	3	1	4	2	3	5	4	2	1	2	rs540420021		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:24874153G>T	ENST00000313367.2	-	15	2149	c.1698C>A	c.(1696-1698)agC>agA	p.S566R	OSBPL3_ENST00000409069.1_Missense_Mutation_p.S499R|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S535R|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S530R|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S499R|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S535R|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S530R	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	566					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)	p.S566S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCAGGAGCTCGCTGTACTCCA	0.637																																																	1	Substitution - coding silent(1)	endometrium(1)											72	68	69					7																	24874153		2203	4300	6503	SO:0001583	missense	0			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1698C>A	7.37:g.24874153G>T	ENSP00000315410:p.Ser566Arg		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S566R	ENST00000313367.2	37	c.1698	CCDS5390.1	7	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161326	0.78226	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.85	-2.76	0.05896	.	0.037652	0.85682	D	0.000000	T	0.54886	0.1886	M	0.87827	2.91	0.58432	D	0.999993	D;D;D;D;P;D	0.89917	1.0;1.0;0.999;1.0;0.885;1.0	D;D;D;D;P;D	0.91635	0.999;0.995;0.986;0.991;0.66;0.995	T	0.61342	-0.7082	10	0.87932	D	0	-15.8911	13.0483	0.58939	0.5309:0.0:0.4691:0.0	.	499;530;499;535;530;566	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	R	566;535;530;499;535;530;499	ENSP00000315410:S566R;ENSP00000315331:S535R;ENSP00000315277:S530R;ENSP00000389779:S499R;ENSP00000379708:S535R;ENSP00000379706:S530R;ENSP00000386953:S499R	ENSP00000315410:S566R	S	-	3	2	OSBPL3	24840678	0.988000	0.35896	0.958000	0.39756	0.976000	0.68499	0.188000	0.17018	-0.601000	0.05783	0.467000	0.42956	AGC	OSBPL3	-	pfam_Oxysterol-bd	ENSG00000070882		0.637	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2		0	49	0	G			24874153	-1			no_errors	ENST00000313367	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.989	T	T	24874153	G	T	24874153	3	4	86	1	0	0	0	0	1	0	0	0	11318	1078	38	2	1001	2	OSBPL3	7	24874153	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	4050109	24874153	134264510	99	22975											
WBSCR17	64409	genome.wustl.edu	37	chr7	70885995	70885995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggtgcagcggtacgAgaactcggcccacgggtaca	9	7	14	11	4	0	2	0	1	0	1	1	3	0	2	1	4	5	3	1	4	3	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:70885995A>T	ENST00000333538.5	+	5	1500	c.866A>T	c.(865-867)gAg>gTg	p.E289V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	289					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E289G(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CAGCGGTACGAGAACTCGGCC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											138	127	130					7																	70885995		2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.866A>T	7.37:g.70885995A>T	ENSP00000329654:p.Glu289Val		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E289V	ENST00000333538.5	37	c.866	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102542	0.76983	.	.	ENSG00000185274	ENST00000333538	T	0.59638	0.25	5.32	5.32	0.75619	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	L	0.38733	1.17	0.80722	D	1	P	0.51933	0.949	P	0.50537	0.643	T	0.53718	-0.8399	10	0.30078	T	0.28	.	14.4767	0.67551	1.0:0.0:0.0:0.0	.	289	Q6IS24	GLTL3_HUMAN	V	289	ENSP00000329654:E289V	ENSP00000329654:E289V	E	+	2	0	WBSCR17	70523931	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	8.962000	0.93254	2.015000	0.59207	0.455000	0.32223	GAG	WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	68	0	A	NM_022479		70885995	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	16.44	61	12	SNP	1.000	T	T	70885995	A	T	70885995	3	4	86	1	0	0	0	0	1	0	0	0	17313	304	11	5	884	5	WBSCR17	7	70885995	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	46011842	70885995	88252668	100	22976											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86541502	86541502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttgctaaagtcatagtgCaaactctgattttctttttc	10	17	7	7	0	3	1	1	1	2	0	4	1	3	1	0	1	3	3	0	1	4	7	rs376940774		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:86541502C>A	ENST00000450689.2	-	15	2240	c.2055G>T	c.(2053-2055)ttG>ttT	p.L685F	KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.L518F|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.L445F|KIAA1324L_ENST00000490995.1_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	685						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGTCATAGTGCAAACTCTGAT	0.368																																																	0													129	129	129					7																	86541502		2203	4300	6503	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2055G>T	7.37:g.86541502C>A	ENSP00000413445:p.Leu685Phe		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.L685F	ENST00000450689.2	37	c.2055	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.71|15.71	2.912789|2.912789	0.52439|0.52439	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000423294|ENST00000450689;ENST00000297222;ENST00000416314	.|T;T;T	.|0.04049	.|3.72;3.72;3.72	6.02|6.02	4.18|4.18	0.49190|0.49190	.|Mannose-6-phosphate receptor, binding (1);	.|0.065857	.|0.64402	.|N	.|0.000007	T|T	0.12220|0.12220	0.0297|0.0297	L|L	0.53729|0.53729	1.69|1.69	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.63046	.|0.185;0.992;0.992	.|B;P;P	.|0.62813	.|0.14;0.907;0.907	T|T	0.17167|0.17167	-1.0378|-1.0378	5|10	.|0.20046	.|T	.|0.44	.|.	9.9033|9.9033	0.41362|0.41362	0.1493:0.7797:0.0:0.071|0.1493:0.7797:0.0:0.071	.|.	.|685;445;518	.|A8MWY0;A8MWY0-2;B4DJV3	.|K132L_HUMAN;.;.	S|F	646|685;445;518	.|ENSP00000413445:L685F;ENSP00000297222:L445F;ENSP00000402390:L518F	.|ENSP00000297222:L445F	A|L	-|-	1|3	0|2	KIAA1324L|KIAA1324L	86379438|86379438	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.480000|1.480000	0.35464|0.35464	0.826000|0.826000	0.34661|0.34661	0.650000|0.650000	0.86243|0.86243	GCA|TTG	KIAA1324L	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000164659		0.368	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	26	0	C	NM_152748		86541502	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	A	A	86541502	C	A	86541502	3	1	86	1	0	0	0	0	1	0	0	0	8251	709	25	3	1066	3	KIAA1324L	7	86541502	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	15655507	86541502	72597161	101	22977											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94881072	94881072	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactattattttcttcttaAgagagcttgatttcatcaaa	13	17	5	6	0	4	2	2	1	2	1	4	4	4	2	0	0	2	1	0	0	5	8			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:94881072A>C	ENST00000433881.1	+	10	2862		c.e10-1		PPP1R9A_ENST00000289495.5_Splice_Site|PPP1R9A_ENST00000433360.1_Splice_Site|PPP1R9A_ENST00000340694.4_Splice_Site|PPP1R9A_ENST00000456331.2_Splice_Site|PPP1R9A_ENST00000424654.1_Splice_Site			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTCTTCTTAAGAGAGCTTGA	0.343										HNSCC(28;0.073)																																							0													37	39	38					7																	94881072		2203	4300	6503	SO:0001630	splice_region_variant	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2331-1A>C	7.37:g.94881072A>C			A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Splice_Site	SNP	-	e9-2	ENST00000433881.1	37	c.2331-2	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	A	11.58	1.679967	0.29783	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	.	.	.	5.05	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7705	0.46319	0.9254:0.0:0.0746:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R9A	94719008	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	7.973000	0.88032	0.888000	0.36160	0.454000	0.30748	.	PPP1R9A	-	-	ENSG00000158528		0.343	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	-	0	62	0	A	NM_001166160	Intron	94881072	1	tier1	-	no_errors	ENST00000289495	ensembl	human	known	74_37	splice_site	25.00	45	15	SNP	1.000	C	C	94881072	A	C	94881072	5	2	86	1	0	0	0	0	0	0	1	0	12420	86	3	4	2433	4	PPP1R9A	7	94881072	Splice_Site	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	8339570	94881072	64257591	102	22978											
CUX1	1523	genome.wustl.edu	37	chr7	101740766	101740766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatacaacaaggaatttgctGaagtgaaaaatcaaggttgg	18	9	10	4	0	1	2	1	2	0	0	1	3	1	3	0	3	3	2	0	3	9	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:101740766G>A	ENST00000292535.7	+	5	429	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	CUX1_ENST00000547394.2_Missense_Mutation_p.E126K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.E131K|CUX1_ENST00000292538.4_Missense_Mutation_p.E142K|CUX1_ENST00000437600.4_Missense_Mutation_p.E142K|CUX1_ENST00000393824.3_Missense_Mutation_p.E105K|CUX1_ENST00000360264.3_Missense_Mutation_p.E142K|CUX1_ENST00000549414.2_Missense_Mutation_p.E131K|CUX1_ENST00000550008.2_Missense_Mutation_p.E131K|CUX1_ENST00000556210.1_Missense_Mutation_p.E131K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	131					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGAATTTGCTGAAGTGAAAAA	0.378																																																	0													90	94	92					7																	101740766		2203	4300	6503	SO:0001583	missense	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"Homeoboxes / CUT class"	2557	protein-coding gene	gene with protein product	"golgi integral membrane protein 6"	116896	"cut (Drosophila)-like 1 (CCAAT displacement protein)", "cut-like 1, CCAAT displacement protein (Drosophila)"	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.391G>A	7.37:g.101740766G>A	ENSP00000292535:p.Glu131Lys		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.E142K	ENST00000292535.7	37	c.424	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653829	0.88056	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T	0.77750	1.05;1.05;1.05;1.05;1.05;-1.12;1.05;1.05;1.05	5.96	5.96	0.96718	.	0.187557	0.46758	D	0.000266	T	0.79701	0.4491	L	0.52905	1.665	0.47214	D	0.99935	P;P;D;P;D;P	0.57257	0.915;0.799;0.979;0.675;0.965;0.873	B;B;P;B;P;P	0.50109	0.164;0.272;0.631;0.367;0.526;0.461	T	0.74785	-0.3547	10	0.19147	T	0.46	-9.6931	18.5813	0.91172	0.0:0.0:1.0:0.0	.	105;131;126;142;142;142	B4DZZ2;P39880;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;CASP_HUMAN;.	K	142;126;142;142;131;131;131;131;131	ENSP00000292538:E142K;ENSP00000449371:E126K;ENSP00000353401:E142K;ENSP00000414091:E142K;ENSP00000292535:E131K;ENSP00000446630:E131K;ENSP00000447373:E131K;ENSP00000450125:E131K;ENSP00000451558:E131K	ENSP00000292535:E131K	E	+	1	0	CUX1	101527486	1.000000	0.71417	0.938000	0.37757	0.967000	0.64934	7.174000	0.77620	2.826000	0.97356	0.655000	0.94253	GAA	CUX1	-	NULL	ENSG00000257923		0.378	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	-	0	66	0	G	NM_001913		101740766	1	tier1	-	no_errors	ENST00000360264	ensembl	human	known	74_37	missense	19.15	38	9	SNP	0.999	A	A	101740766	G	A	101740766	3	1	86	1	0	0	0	0	1	0	0	0	4073	1291	45	3	476	3	CUX1	7	101740766	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	6859694	101740766	57397897	103	22979											
KCND2	3751	genome.wustl.edu	37	chr7	119914757	119914757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggtggatgcctgtggcctCggggcctatgccggctcccc	2	8	16	15	3	0	0	0	0	0	0	2	1	1	1	6	6	2	1	6	6	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:119914757C>T	ENST00000331113.4	+	1	1036	c.71C>T	c.(70-72)tCg>tTg	p.S24L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	24					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCTGTGGCCTCGGGGCCTATG	0.617																																																	0													88	105	99					7																	119914757		2201	4299	6500	SO:0001583	missense	0			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.71C>T	7.37:g.119914757C>T	ENSP00000333496:p.Ser24Leu		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S24L	ENST00000331113.4	37	c.71	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584256	0.46110	.	.	ENSG00000184408	ENST00000331113	D	0.96774	-4.12	5.51	5.51	0.81932	Shal-type voltage-gated potassium channels (1);	0.235105	0.37437	N	0.002099	D	0.94364	0.8188	L	0.48642	1.525	0.36870	D	0.888858	B	0.21753	0.06	B	0.21708	0.036	D	0.92612	0.6100	9	.	.	.	.	19.427	0.94746	0.0:1.0:0.0:0.0	.	24	Q9NZV8	KCND2_HUMAN	L	24	ENSP00000333496:S24L	.	S	+	2	0	KCND2	119701993	0.692000	0.27719	1.000000	0.80357	0.997000	0.91878	1.340000	0.33896	2.603000	0.88011	0.655000	0.94253	TCG	KCND2	-	pfam_Shal-type	ENSG00000184408		0.617	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	-	0	40	0	C	NM_012281		119914757	1	tier1	-	no_errors	ENST00000331113	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	T	T	119914757	C	T	119914757	3	4	86	1	0	0	0	0	1	0	0	0	8046	893	31	1	73	1	KCND2	7	119914757	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	18173991	119914757	39223906	104	22980											
LUC7L2	100996928	genome.wustl.edu	37	chr7	139045070	139045071	+	Splice_Site	INS	-	-	AA																															tgggcacctcccgggacggtINSaagtctctgccagggccctg																										TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:139045070_139045071insAA	ENST00000354926.4	+	1	415		c.e1+2		RP11-634H22.1_ENST00000608266.1_RNA|C7orf55-LUC7L2_ENST00000541170.3_Intron|LUC7L2_ENST00000541515.3_Intron	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		CCCGGGACGGTAAGTCTCTGCC	0.748																																																	0																																										SO:0001630	splice_region_variant	0				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.61+2->AA	7.37:g.139045071_139045072dupAA				Splice_Site	INS	-	e1+2	ENST00000354926.4	37	c.61+2_61+1	CCDS43656.1	7																																																																																			C7orf55-LUC7L2	-	-	ENSG00000146963		0.748	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf55-LUC7L2	HGNC	protein_coding	OTTHUMT00000323618.2		0	23	0	-		Intron	139045071	1	tier1		no_errors	ENST00000354926	ensembl	human	known	74_37	splice_site_ins	17.14	29	6	INS	1.000:1.000	AA	AA	139045071	-	AA	139045070	8	5	86	1	0	1	1	0	0	0	1	0	9118	1652	57	0	65	0	LUC7L2	7	139045070	Splice_Site	INS	-	TCGA-L5-A8NL-01A-12D-A37C-09	19130313	139045070	20093593	105	22981											
C7orf34	3792	genome.wustl.edu	37	chr7	142636712	142636712	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaaggcagtgggtgggCaggtccatgcctcccctggc	6	6	16	13	0	0	0	0	0	0	0	2	0	2	0	5	6	1	2	5	6	1	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:142636712C>T	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Silent_p.G23G	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTGGGTGGGCAGGTCCATGC	0.667																																																	0													45	47	47					7																	142636712		2203	4300	6503	SO:0001628	intergenic_variant	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636712C>T			B2RBV4|Q96RS8|Q99885	Silent	SNP	NULL	p.G23	ENST00000355265.2	37	c.69	CCDS34766.1	7																																																																																			C7orf34	-	NULL	ENSG00000165131		0.667	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf34	HGNC	protein_coding	OTTHUMT00000347671.2		0	23	0	C	NM_000420		142636712	1			no_errors	ENST00000409607	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.531	T	T	142636712	C	T	142636712	1	4	86	0	1	0	0	0	0	0	0	0	2396	697	25	3		3	C7orf34	7	142636712	IGR	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	3591642	142636712	16501951	106	22982											
CUL1	8454	genome.wustl.edu	37	chr7	148480983	148480983	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtggctgctcttgataagGtaggtgcgtgagggttgtga	6	14	17	4	1	1	3	0	3	1	0	1	3	1	3	0	4	2	4	0	4	2	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:148480983G>T	ENST00000325222.4	+	10	1470		c.e10+1		CUL1_ENST00000602748.1_Splice_Site|CUL1_ENST00000409469.1_Splice_Site	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCTTGATAAGGTAGGTGCGTG	0.443																																																	0													121	107	112					7																	148480983		2203	4300	6503	SO:0001630	splice_region_variant	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1191+1G>T	7.37:g.148480983G>T			D3DWG3|O60719|Q08AL6|Q8IYW1	Splice_Site	SNP	-	e9+1	ENST00000325222.4	37	c.1191+1	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	g	19.60	3.857808	0.71834	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.418	0.90577	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUL1	148111916	1.000000	0.71417	0.993000	0.49108	0.594000	0.36715	9.485000	0.97942	2.421000	0.82119	0.655000	0.94253	.	CUL1	-	-	ENSG00000055130		0.443	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	-	0	77	0	G	NM_003592	Intron	148480983	1	tier1	-	no_errors	ENST00000325222	ensembl	human	known	74_37	splice_site	6.35	59	4	SNP	1.000	T	T	148480983	G	T	148480983	5	4	86	1	0	0	0	0	0	0	1	0	4063	1275	44	3	1226	3	CUL1	7	148480983	Splice_Site	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	5844271	148480983	10657680	107	22983											
NOM1	64434	genome.wustl.edu	37	chr7	156752836	156752836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccagaccaaagccagcGgggcaggcagcgagtttcag	12	3	14	12	2	1	1	1	0	0	1	1	2	1	1	3	3	4	3	3	3	2	1	rs111976742	byFrequency	TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr7:156752836G>T	ENST00000275820.3	+	4	1615	c.1600G>T	c.(1600-1602)Ggg>Tgg	p.G534W		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	534	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CAAAGCCAGCGGGGCAGGCAG	0.473																																																	0													67	75	72					7																	156752836		2203	4300	6503	SO:0001583	missense	0			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 113"	611269	"chromosome 7 open reading frame 3"	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1600G>T	7.37:g.156752836G>T	ENSP00000275820:p.Gly534Trp		Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.G534W	ENST00000275820.3	37	c.1600	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197962	0.22037	.	.	ENSG00000146909	ENST00000275820	T	0.21932	1.98	4.93	3.13	0.36017	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.379059	0.28104	N	0.016598	T	0.40932	0.1137	M	0.61703	1.905	0.09310	N	1	D	0.61080	0.989	D	0.70487	0.969	T	0.21759	-1.0236	10	0.72032	D	0.01	-12.5735	12.3194	0.54977	0.1706:0.0:0.8294:0.0	.	534	Q5C9Z4	NOM1_HUMAN	W	534	ENSP00000275820:G534W	ENSP00000275820:G534W	G	+	1	0	NOM1	156445597	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.156000	0.16382	0.496000	0.27904	-1.247000	0.01520	GGG	NOM1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000146909		0.473	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1		0	70	0	G	NM_138400		156752836	1			no_errors	ENST00000275820	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.013	T	T	156752836	G	T	156752836	3	4	86	1	0	0	0	0	1	0	0	0	10569	1116	39	2	1614	2	NOM1	7	156752836	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	8271853	156752836	2385827	108	22984											
RP1L1	94137	genome.wustl.edu	37	chr8	10480591	10480591	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaaaccgtggatcccctcGcttgaggaaggtgatcttct	9	10	11	11	2	2	2	0	2	2	0	4	4	3	4	3	3	2	2	3	3	2	2	rs552894484		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:10480591G>A	ENST00000382483.3	-	2	344	c.121C>T	c.(121-123)Cga>Tga	p.R41*	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	41	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGATCCCCTCGCTTGAGGAAG	0.657																																																	0													40	45	43					8																	10480591		2080	4185	6265	SO:0001587	stop_gained	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.121C>T	8.37:g.10480591G>A	ENSP00000371923:p.Arg41*		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R41*	ENST00000382483.3	37	c.121	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	g	34	5.343039	0.95783	.	.	ENSG00000183638	ENST00000382483	.	.	.	4.65	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9107	11.7964	0.52102	0.0:0.0:0.3238:0.6762	.	.	.	.	X	41	.	ENSP00000371923:R41X	R	-	1	2	RP1L1	10518001	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	1.724000	0.38064	0.519000	0.28406	0.457000	0.33378	CGA	RP1L1	-	smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000183638		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	53	0	G			10480591	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	nonsense	16.67	35	7	SNP	1.000	A	A	10480591	G	A	10480591	4	1	86	1	0	0	0	0	0	1	0	0	13578	1095	38	1	7093	1	RP1L1	8	10480591	Nonsense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		10480591	135883431	109	22985											
PCM1	5108	genome.wustl.edu	37	chr8	17868164	17868164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgctggagagattgAtgatgaagacaaagtatgtg	13	10	12	6	0	1	5	1	3	0	2	1	7	1	6	1	1	1	2	1	1	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:17868164A>G	ENST00000519253.1	+	32	5434	c.5183A>G	c.(5182-5184)gAt>gGt	p.D1728G	PCM1_ENST00000325083.8_Missense_Mutation_p.D1736G|PCM1_ENST00000327578.8_Missense_Mutation_p.D435G|PCM1_ENST00000524226.1_Missense_Mutation_p.D1682G			Q15154	PCM1_HUMAN	pericentriolar material 1	1736	Interaction with HAP1.				centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GGAGAGATTGATGATGAAGAC	0.418			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													120	116	117					8																	17868164		1868	4105	5973	SO:0001583	missense	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.5183A>G	8.37:g.17868164A>G	ENSP00000431099:p.Asp1728Gly		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.D1736G	ENST00000519253.1	37	c.5207		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.05|17.05	3.290494|3.290494	0.59976|0.59976	.|.	.|.	ENSG00000078674|ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226;ENST00000327578|ENST00000522275	T;T;T;T|.	0.18338|.	3.58;3.58;3.36;2.22|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.147481|.	0.64402|.	D|.	0.000012|.	T|T	0.58977|0.58977	0.2160|0.2160	L|L	0.46157|0.46157	1.445|1.445	0.37220|0.37220	D|D	0.905192|0.905192	D;D;D;D;D;D;D|.	0.71674|.	0.998;0.998;0.998;0.998;0.988;0.983;0.998|.	D;D;D;D;P;D;D|.	0.78314|.	0.991;0.991;0.991;0.991;0.786;0.919;0.991|.	T|T	0.62562|0.62562	-0.6828|-0.6828	10|5	0.15499|.	T|.	0.54|.	-14.961|-14.961	11.5513|11.5513	0.50723|0.50723	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1728;1736;535;1728;1681;1682;1736|.	B9EIS5;D3DSQ0;B4DJ00;E7ETA6;Q15154-2;E7EV56;Q15154|.	.;.;.;.;.;.;PCM1_HUMAN|.	G|V	1736;1728;1682;435|476	ENSP00000327077:D1736G;ENSP00000431099:D1728G;ENSP00000430521:D1682G;ENSP00000328332:D435G|.	ENSP00000327077:D1736G|.	D|M	+|+	2|1	0|0	PCM1|PCM1	17912444|17912444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.865000|0.865000	0.49528|0.49528	3.478000|3.478000	0.53158|0.53158	2.045000|2.045000	0.60652|0.60652	0.459000|0.459000	0.35465|0.35465	GAT|ATG	PCM1	-	NULL	ENSG00000078674		0.418	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	-	0	50	0	A	NM_006197		17868164	1	tier1	-	no_errors	ENST00000325083	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	G	G	17868164	A	G	17868164	3	3	86	1	0	0	0	0	1	0	0	0	11623	333	12	4	5325	4	PCM1	8	17868164	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	7387573	17868164	128495858	110	22986											
KIAA1967	57805	genome.wustl.edu	37	chr8	22472942	22472942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgccatgtgcaggtggCgctttgccgagtttcagtac	5	14	12	10	2	1	0	1	0	0	0	1	1	1	0	2	2	4	4	2	2	1	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:22472942C>T	ENST00000308511.4	+	12	1459	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	CCAR2_ENST00000520861.1_Missense_Mutation_p.R79C|CCAR2_ENST00000389279.3_Missense_Mutation_p.R404C|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	404					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GTGCAGGTGGCGCTTTGCCGA	0.562																																																	0													72	81	78					8																	22472942		2203	4300	6503	SO:0001583	missense	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1210C>T	8.37:g.22472942C>T	ENSP00000310670:p.Arg404Cys		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.R404C	ENST00000308511.4	37	c.1210	CCDS34863.1	8	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015255	0.93404	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861;ENST00000522599	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.38	5.38	0.77491	.	0.090044	0.45126	D	0.000390	T	0.68540	0.3012	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.70777	-0.4780	10	0.87932	D	0	-16.3802	16.6817	0.85294	0.0:1.0:0.0:0.0	.	79;404	G3V119;Q8N163	.;K1967_HUMAN	C	404;404;79;222	ENSP00000310670:R404C;ENSP00000373930:R404C;ENSP00000429773:R79C;ENSP00000429739:R222C	ENSP00000310670:R404C	R	+	1	0	KIAA1967	22528887	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.066000	0.76734	2.793000	0.96121	0.655000	0.94253	CGC	CCAR2	-	NULL	ENSG00000158941		0.562	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR2	HGNC	protein_coding	OTTHUMT00000375865.1		0	56	0	C	NM_021174		22472942	1			no_errors	ENST00000308511	ensembl	human	known	74_37	missense	5.17	54	3	SNP	1.000	T	T	22472942	C	T	22472942	3	4	86	1	0	0	0	0	1	0	0	0	8292	768	27	1	1252	1	KIAA1967	8	22472942	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	4604778	22472942	123891080	111	22987											
LOXL2	4017	genome.wustl.edu	37	chr8	23167424	23167424	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggaccaggtcaggggcgGctgcggaggatggcatgctg	7	6	20	8	2	1	1	1	1	0	0	1	4	1	4	1	8	2	3	1	8	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:23167424G>A	ENST00000389131.3	-	10	2006	c.1637C>T	c.(1636-1638)aCc>aTc	p.T546I		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	546					aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GTCAGGGGCGGCTGCGGAGGA	0.607																																																	0													38	37	38					8																	23167424		2203	4299	6502	SO:0001630	splice_region_variant	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1637-1C>T	8.37:g.23167424G>A			B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.T546I	ENST00000389131.3	37	c.1637	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961905	0.53400	.	.	ENSG00000134013	ENST00000389131	T	0.28069	1.63	5.67	5.67	0.87782	Speract/scavenger receptor-related (1);	0.047631	0.85682	D	0.000000	T	0.48333	0.1494	M	0.65975	2.015	0.80722	D	1	D;D	0.55172	0.969;0.97	P;P	0.53809	0.677;0.735	T	0.43972	-0.9358	10	0.54805	T	0.06	.	18.3462	0.90322	0.0:0.0:1.0:0.0	.	546;546	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	I	546	ENSP00000373783:T546I	ENSP00000373783:T546I	T	-	2	0	LOXL2	23223369	1.000000	0.71417	0.905000	0.35620	0.070000	0.16714	6.829000	0.75314	2.677000	0.91161	0.561000	0.74099	ACC	LOXL2	-	superfamily_Srcr_rcpt-rel	ENSG00000134013		0.607	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1		0	45	0	G		Missense_Mutation	23167424	-1			no_errors	ENST00000389131	ensembl	human	known	74_37	missense	15.38	32	6	SNP	0.999	A	A	23167424	G	A	23167424	5	1	86	1	0	0	0	0	0	0	1	0	8935	1217	42	3	707	3	LOXL2	8	23167424	Splice_Site	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	694482	23167424	123196598	112	22988											
EBF2	64641	genome.wustl.edu	37	chr8	25890600	25890600	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatcactttttccccctaCctgtcaattatgactgggtc	10	14	5	12	0	2	1	2	1	0	0	4	1	3	1	3	1	1	0	3	1	5	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:25890600C>T	ENST00000520164.1	-	6	1089		c.e6+1		EBF2_ENST00000408929.3_Splice_Site	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2						adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTTCCCCCTACCTGTCAATTA	0.428																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)												0													122	122	122					8																	25890600		1948	4185	6133	SO:0001630	splice_region_variant	0			AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.551+1G>A	8.37:g.25890600C>T			A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Splice_Site	SNP	-	e6+1	ENST00000520164.1	37	c.551+1	CCDS43726.1	8	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894963	0.91962	.	.	ENSG00000221818	ENST00000520164;ENST00000408929	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EBF2	25946517	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	.	EBF2	-	-	ENSG00000221818		0.428	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBF2	HGNC	protein_coding	OTTHUMT00000375886.2	-	0	59	0	C	NM_022659	Intron	25890600	-1	tier1	-	no_errors	ENST00000520164	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	T	T	25890600	C	T	25890600	5	4	86	1	0	0	0	0	0	0	1	0	4895	521	18	3	1219	3	EBF2	8	25890600	Splice_Site	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	2723176	25890600	120473422	113	22989											
PURG	29942	genome.wustl.edu	37	chr8	30890164	30890164	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctgattaggggtggcTgaggccgcgtagtgggggta	5	8	20	8	3	0	2	0	2	0	0	0	2	0	2	3	7	0	3	3	7	3	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:30890164T>A	ENST00000475541.1	-	1	1067	c.135A>T	c.(133-135)tcA>tcT	p.S45S	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.S45S	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	45						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TAGGGGTGGCTGAGGCCGCGT	0.607																																																	0													21	23	22					8																	30890164		2202	4300	6502	SO:0001819	synonymous_variant	0			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.135A>T	8.37:g.30890164T>A			Q8TE64	Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.S45	ENST00000475541.1	37	c.135	CCDS6081.1	8																																																																																			PURG	-	NULL	ENSG00000172733		0.607	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1		0	49	0	T	NM_013357		30890164	-1			no_errors	ENST00000475541	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.327	A	A	30890164	T	A	30890164	2	1	86	1	0	0	0	0	0	0	0	1	12874	1567	55	5		5	PURG	8	30890164	Silent	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	4999564	30890164	115473858	114	22990											
ADAM32	203102	genome.wustl.edu	37	chr8	39103684	39103684	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaacagtgttctggacatgGagtaagtaaccacatgtttc	13	11	9	8	0	1	0	0	0	1	0	2	2	1	2	1	2	2	4	1	2	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:39103684G>T	ENST00000379907.4	+	17	2028	c.1901G>T	c.(1900-1902)gGa>gTa	p.G634V	ADAM32_ENST00000437682.2_Splice_Site_p.G535V|ADAM32_ENST00000519315.1_Splice_Site_p.G528V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	634	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TCTGGACATGGAGTAAGTAAC	0.363																																																	0													179	168	171					8																	39103684		1893	4117	6010	SO:0001630	splice_region_variant	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"ADAM metallopeptidase domain containing"	15479	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 32"			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1902+1G>T	8.37:g.39103684G>T			Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.G634V	ENST00000379907.4	37	c.1901	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130751	0.56828	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.97256	-4.31;-4.31;-4.31	4.31	4.31	0.51392	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98770	0.9586	H	0.95328	3.655	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.963;1.0;0.968;1.0	D	0.98664	1.0685	9	0.87932	D	0	.	12.5887	0.56432	0.0:0.0:1.0:0.0	.	535;58;528;634	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	V	535;528;634	ENSP00000405978:G535V;ENSP00000429422:G528V;ENSP00000369238:G634V	ENSP00000369238:G634V	G	+	2	0	ADAM32	39222841	1.000000	0.71417	0.998000	0.56505	0.721000	0.41392	3.570000	0.53834	2.677000	0.91161	0.655000	0.94253	GGA	ADAM32	-	pfscan_EG-like_dom	ENSG00000197140		0.363	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0	44	0	G	NM_145004	Missense_Mutation	39103684	1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T	T	39103684	G	T	39103684	5	4	86	1	0	0	0	0	0	0	1	0	249	1188	41	3	1967	3	ADAM32	8	39103684	Splice_Site	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	8213520	39103684	107260338	115	22991											
VPS13B	157680	genome.wustl.edu	37	chr8	100829828	100829828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagcatagaactaaaaGtcgttcagcattacattggt	15	11	7	8	1	2	1	2	0	0	1	3	1	2	1	0	1	4	3	0	1	6	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:100829828G>T	ENST00000358544.2	+	45	8344	c.8233G>T	c.(8233-8235)Gtc>Ttc	p.V2745F	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2720F|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2745					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGAACTAAAAGTCGTTCAGCA	0.373																																					Colon(161;2205 2542 7338 31318)												0													89	88	89					8																	100829828		2203	4300	6503	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8233G>T	8.37:g.100829828G>T	ENSP00000351346:p.Val2745Phe		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.V2745F	ENST00000358544.2	37	c.8233	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566995	0.86439	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72942	-0.7;-0.69	5.61	5.61	0.85477	.	0.224701	0.36519	N	0.002550	T	0.74928	0.3781	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.996;0.981	P;P	0.61201	0.885;0.691	T	0.77648	-0.2509	10	0.72032	D	0.01	.	19.9938	0.97376	0.0:0.0:1.0:0.0	.	2720;2745	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	F	2720;2745	ENSP00000349685:V2720F;ENSP00000351346:V2745F	ENSP00000349685:V2720F	V	+	1	0	VPS13B	100899004	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.154000	0.58125	2.796000	0.96246	0.655000	0.94253	GTC	VPS13B	-	NULL	ENSG00000132549		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	-	0	55	0	G	NM_184042		100829828	1	tier1	-	no_errors	ENST00000358544	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	100829828	G	T	100829828	3	4	86	1	0	0	0	0	1	0	0	0	17239	1029	36	3	8601	3	VPS13B	8	100829828	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	61726144	100829828	45534194	116	22992											
RIMS2	9699	genome.wustl.edu	37	chr8	104897916	104897916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgaagtgtcccgagcacgGcatgagagaaggcatagtga	12	6	15	8	2	0	4	0	3	0	1	1	6	1	4	1	2	1	4	1	2	3	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:104897916G>A	ENST00000436393.2	+	2	664	c.423G>A	c.(421-423)cgG>cgA	p.R141R	RIMS2_ENST00000262231.10_Silent_p.R171R|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Silent_p.R171R|RIMS2_ENST00000406091.3_Silent_p.R363R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	394	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCGAGCACGGCATGAGAGAA	0.468										HNSCC(12;0.0054)																																							0													95	94	95					8																	104897916		1992	4157	6149	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.423G>A	8.37:g.104897916G>A			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R363	ENST00000436393.2	37	c.1089		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.468	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	58	0	G	NM_001100117		104897916	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.998	A	A	104897916	G	A	104897916	2	1	86	1	0	0	0	0	0	0	0	1	13413	1190	42	3		3	RIMS2	8	104897916	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	4068088	104897916	41466106	117	22993											
SLC30A8	169026	genome.wustl.edu	37	chr8	118159330	118159330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgaatgagtacgcctatgCcaagtggaaactctgttctg	10	10	12	9	2	2	1	0	1	2	0	2	3	2	2	2	2	3	2	2	2	5	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:118159330C>T	ENST00000456015.2	+	2	209	c.209C>T	c.(208-210)gCc>gTc	p.A70V	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A21V|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A21V|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A21V	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	70					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TACGCCTATGCCAAGTGGAAA	0.493																																					Ovarian(162;1202 1922 6011 16223 52092)												0													181	153	162					8																	118159330		2203	4300	6503	SO:0001583	missense	0				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"Solute carriers"	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.209C>T	8.37:g.118159330C>T	ENSP00000415011:p.Ala70Val		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A70V	ENST00000456015.2	37	c.209	CCDS6322.1	8	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300715	0.81136	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.97	5.08	0.68730	.	0.053201	0.85682	D	0.000000	T	0.69913	0.3164	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72450	-0.4290	10	0.52906	T	0.07	-15.0897	15.7869	0.78310	0.0:0.8633:0.1367:0.0	.	70	Q8IWU4	ZNT8_HUMAN	V	21;21;21;21;70	ENSP00000428545:A21V;ENSP00000427760:A21V;ENSP00000407505:A21V;ENSP00000431069:A21V;ENSP00000415011:A70V	ENSP00000407505:A21V	A	+	2	0	SLC30A8	118228511	1.000000	0.71417	0.996000	0.52242	0.290000	0.27261	4.981000	0.63819	1.497000	0.48584	0.655000	0.94253	GCC	SLC30A8	-	NULL	ENSG00000164756		0.493	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A8	HGNC	protein_coding	OTTHUMT00000381205.1		0	36	0	C	NM_173851		118159330	1			no_errors	ENST00000456015	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	118159330	C	T	118159330	3	4	86	1	0	0	0	0	1	0	0	0	14606	739	26	3	215	3	SLC30A8	8	118159330	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	13261414	118159330	28204692	118	22994											
ZFAT	57623	genome.wustl.edu	37	chr8	135545194	135545194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatatgttgcaggagtaatGgcaatgggcacagcggaaag	14	7	15	5	1	0	1	0	0	0	1	0	3	0	3	0	4	2	5	0	4	4	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr8:135545194G>A	ENST00000377838.3	-	12	3172	c.2998C>T	c.(2998-3000)Cat>Tat	p.H1000Y	ZFAT_ENST00000520356.1_Missense_Mutation_p.H988Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.H938Y|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.H988Y|ZFAT_ENST00000520727.1_Missense_Mutation_p.H988Y|ZFAT_ENST00000520214.1_Missense_Mutation_p.H988Y	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1000					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CAGGAGTAATGGCAATGGGCA	0.587																																																	0													55	58	57					8																	135545194		2067	4189	6256	SO:0001583	missense	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"Zinc fingers, C2H2-type"	19899	protein-coding gene	gene with protein product		610931	"zinc finger protein 406"	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2998C>T	8.37:g.135545194G>A	ENSP00000367069:p.His1000Tyr		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1000Y	ENST00000377838.3	37	c.2998	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468813	0.84533	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	5.38	5.38	0.77491	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.098046	0.64402	D	0.000002	T	0.47911	0.1471	L	0.36672	1.1	0.54753	D	0.999985	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.80764	0.992;0.962;0.994;0.924	T	0.46624	-0.9178	10	0.72032	D	0.01	-8.1753	18.1676	0.89733	0.0:0.0:1.0:0.0	.	119;938;988;1000	B7Z741;E9PER3;E9PBN4;Q9P243	.;.;.;ZFAT_HUMAN	Y	988;988;988;1000;988;887;938	ENSP00000427879:H988Y;ENSP00000427831:H988Y;ENSP00000394501:H988Y;ENSP00000367069:H1000Y;ENSP00000428483:H988Y;ENSP00000429091:H938Y	ENSP00000326997:H887Y	H	-	1	0	ZFAT	135614376	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.131000	0.94446	2.530000	0.85305	0.585000	0.79938	CAT	ZFAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066827		0.587	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	-	0	67	0	G	NM_001029939		135545194	-1	tier1	-	no_errors	ENST00000377838	ensembl	human	known	74_37	missense	25.45	40	14	SNP	1.000	A	A	135545194	G	A	135545194	3	1	86	1	0	0	0	0	1	0	0	0	17680	1348	47	3	753	3	ZFAT	8	135545194	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	17385864	135545194	10818828	119	22995											
GLDC	2731	genome.wustl.edu	37	chr9	6589249	6589249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgaacacagaccctGgaatacctctgcactcctct	9	11	5	16	0	3	2	0	1	3	1	5	3	5	3	4	1	3	1	4	1	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr9:6589249G>A	ENST00000321612.6	-	12	1676	c.1526C>T	c.(1525-1527)cCa>cTa	p.P509L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	509					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	CACAGACCCTGGAATACCTCT	0.502																																																	0													160	126	138					9																	6589249		2203	4298	6501	SO:0001583	missense	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1526C>T	9.37:g.6589249G>A	ENSP00000370737:p.Pro509Leu		Q2M2F8	Missense_Mutation	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	p.P509L	ENST00000321612.6	37	c.1526	CCDS34987.1	9	.	.	.	.	.	.	.	.	.	.	G	6.388	0.439695	0.12104	.	.	ENSG00000178445	ENST00000321612	D	0.99143	-5.48	5.37	-1.6	0.08426	.	0.497841	0.23310	N	0.049568	D	0.92886	0.7737	N	0.02960	-0.455	0.31314	N	0.686841	B	0.02656	0.0	B	0.01281	0.0	D	0.87704	0.2562	10	0.10377	T	0.69	0.5223	11.1796	0.48620	0.8159:0.0:0.1841:0.0	.	509	P23378	GCSP_HUMAN	L	509	ENSP00000370737:P509L	ENSP00000370737:P509L	P	-	2	0	GLDC	6579249	0.990000	0.36364	0.708000	0.30435	0.181000	0.23173	2.165000	0.42396	-0.153000	0.11137	0.557000	0.71058	CCA	GLDC	-	tigrfam_GDC_P_homo	ENSG00000178445		0.502	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2	-	0	46	0	G	NM_000170		6589249	-1	tier1	-	no_errors	ENST00000321612	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.998	A	A	6589249	G	A	6589249	3	1	86	1	0	0	0	0	1	0	0	0	6459	1348	47	3	1592	3	GLDC	9	6589249	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		6589249	134624182	120	22996											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971119	21971119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcagcgtcgtgcacgggtCgggtgagagtggcggggtcg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	6	2	2	0	6	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr9:21971119C>T	ENST00000304494.5	-	2	509	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	CDKN2A_ENST00000530628.2_Silent_p.P94P|CDKN2A_ENST00000361570.3_Silent_p.P135P|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R29Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R29Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R80Q|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R29Q|CDKN2A_ENST00000579755.1_Silent_p.P94P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R80Q|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R80Q|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R29Q|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R29Q|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.R80Q(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTGCACGGGTCGGGTGAGAGT	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1371	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(7)|Substitution - Missense(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(284)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(75)|soft_tissue(57)|oesophagus(56)|pleura(51)|upper_aerodigestive_tract(50)|ovary(36)|kidney(32)|breast(32)|pancreas(31)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											11	14	13					9																	21971119		2169	4250	6419	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.239G>A	9.37:g.21971119C>T	ENSP00000307101:p.Arg80Gln		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R80Q	ENST00000304494.5	37	c.239	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720783	0.68959	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.78707	-1.2;-1.2	5.93	2.87	0.33458	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.81903	0.4921	.	.	.	0.80722	D	1	D	0.89917	1.0	P	0.61003	0.882	T	0.80937	-0.1159	8	0.54805	T	0.06	-2.989	5.4685	0.16656	0.1617:0.6145:0.0:0.2239	.	80	P42771	CD2A1_HUMAN	Q	80	ENSP00000307101:R80Q;ENSP00000394932:R80Q	ENSP00000307101:R80Q	R	-	2	0	CDKN2A	21961119	0.010000	0.17322	0.993000	0.49108	0.886000	0.51366	0.044000	0.13992	1.514000	0.48869	0.650000	0.86243	CGA	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	25	0	C	NM_000077		21971119	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.875	T	T	21971119	C	T	21971119	3	4	86	1	0	0	0	0	1	0	0	0	3168	884	31	1	239	1	CDKN2A	9	21971119	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	15381870	21971119	119242312	121	22997											
DCAF12	25853	genome.wustl.edu	37	chr9	34125063	34125063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accacttgcctatgattcaaCcactgagatgcaaacacttt	13	11	5	12	0	1	2	1	2	0	1	1	3	1	2	3	0	4	1	3	0	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr9:34125063C>A	ENST00000361264.4	-	2	632	c.291G>T	c.(289-291)tgG>tgT	p.W97C	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	97					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TATGATTCAACCACTGAGATG	0.493																																																	0													152	140	144					9																	34125063		2203	4300	6503	SO:0001583	missense	0			AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	19911	protein-coding gene	gene with protein product	"cancer/testis antigen 102"		"KIAA1892", "WD repeat domain 40A"	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.291G>T	9.37:g.34125063C>A	ENSP00000355114:p.Trp97Cys		A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W97C	ENST00000361264.4	37	c.291	CCDS6549.1	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956099	0.73902	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.69306	-0.39;-0.39;-0.39	5.39	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84542	0.0639	10	0.87932	D	0	-17.3398	14.0018	0.64437	0.0:0.9265:0.0:0.0735	.	97	Q5T6F0	DCA12_HUMAN	C	97;79;76	ENSP00000355114:W97C;ENSP00000380187:W79C;ENSP00000415833:W76C	ENSP00000355114:W97C	W	-	3	0	DCAF12	34115063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	1.273000	0.44346	0.650000	0.86243	TGG	DCAF12	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000198876		0.493	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12	HGNC	protein_coding	OTTHUMT00000052133.2		0	20	0	C	NM_015397		34125063	-1			no_errors	ENST00000361264	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	A	A	34125063	C	A	34125063	3	1	86	1	0	0	0	0	1	0	0	0	4272	508	18	3	1102	3	DCAF12	9	34125063	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	12153944	34125063	107088368	122	22998											
ROD1	9991	genome.wustl.edu	37	chr9	115038236	115038236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcgaagatggagaacaCgggaaggcgaacagggaggt	13	7	16	5	3	0	2	0	0	0	2	1	7	0	4	0	5	2	0	0	5	4	2	rs375648210		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr9:115038236C>T	ENST00000374255.2	-	4	323	c.176G>A	c.(175-177)cGt>cAt	p.R59H	PTBP3_ENST00000334318.6_Missense_Mutation_p.R62H|PTBP3_ENST00000374257.1_Missense_Mutation_p.R31H|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000458258.1_Missense_Mutation_p.R65H|PTBP3_ENST00000343327.2_Intron			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										ATGGAGAACACGGGAAGGCGA	0.353																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	119	112	114		92,185,176	5.5	1	9		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ROD1	NM_001163788.1,NM_001163790.1,NM_005156.5	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	31/525,62/556,59/553	115038236	1,13005	2203	4300	6503	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"RNA binding motif (RRM) containing"	10253	protein-coding gene	gene with protein product		607527	"regulator of differentiation (in S. pombe) 1", "ROD1 regulator of differentiation 1 (S. pombe)"	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.176G>A	9.37:g.115038236C>T	ENSP00000363373:p.Arg59His		B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.R65H	ENST00000374255.2	37	c.194	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.540424	0.96474	0.0	1.16E-4	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000210227;ENST00000450374	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.51	5.51	0.81932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.056577	0.64402	D	0.000001	D	0.90947	0.7154	M	0.91717	3.235	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.76575	0.879;0.969;0.982;0.953;0.988	D	0.92585	0.6078	10	0.87932	D	0	-5.7149	19.3944	0.94601	0.0:1.0:0.0:0.0	.	31;31;62;59;65	B1ALY5;O95758-2;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	H	31;62;65;59;65;62	ENSP00000363375:R31H;ENSP00000334499:R62H;ENSP00000414921:R65H;ENSP00000363373:R59H;ENSP00000210227:R65H	ENSP00000210227:R65H	R	-	2	0	ROD1	114078057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.757000	0.68766	2.574000	0.86865	0.591000	0.81541	CGT	PTBP3	-	pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000119314		0.353	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	-	0	100	0	C			115038236	-1	tier1	-	no_errors	ENST00000458258	ensembl	human	known	74_37	missense	5.31	107	6	SNP	1.000	T	T	115038236	C	T	115038236	3	4	86	1	0	0	0	0	1	0	0	0	13564	536	19	1	1530	1	ROD1	9	115038236	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	80913173	115038236	26175195	123	22999											
DBC1	1620	genome.wustl.edu	37	chr9	121929790	121929790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagccgagtccgactacGtaggtagatgtggaccgtct	9	9	14	9	4	1	1	0	0	1	1	2	4	2	2	3	3	2	3	3	3	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr9:121929790G>A	ENST00000265922.3	-	8	2319	c.1858C>T	c.(1858-1860)Cgt>Tgt	p.R620C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	620					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GTCCGACTACGTAGGTAGATG	0.537																																																	0													123	120	121					9																	121929790		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1858C>T	9.37:g.121929790G>A	ENSP00000265922:p.Arg620Cys		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R620C	ENST00000265922.3	37	c.1858	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339327	0.60963	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.21932	1.98	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.43540	-0.9385	10	0.87932	D	0	-8.5031	18.8724	0.92320	0.0:0.0:1.0:0.0	.	620	O60477	DBC1_HUMAN	C	620	ENSP00000265922:R620C	ENSP00000265922:R620C	R	-	1	0	DBC1	120969611	1.000000	0.71417	0.983000	0.44433	0.991000	0.79684	4.514000	0.60482	2.540000	0.85666	0.655000	0.94253	CGT	BRINP1	-	NULL	ENSG00000078725		0.537	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	44	0	G	NM_014618		121929790	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A	A	121929790	G	A	121929790	3	1	86	1	0	0	0	0	1	0	0	0	4256	1145	40	1	431	1	DBC1	9	121929790	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	6891554	121929790	19283641	124	23000											
MAN1B1	11253	genome.wustl.edu	37	chr9	139992307	139992307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggtgatcgagcctgaGcagggcaccgagctcccttc	7	6	15	13	3	0	2	0	2	0	0	3	5	1	3	3	3	4	3	3	3	0	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr9:139992307G>T	ENST00000371589.4	+	5	721	c.648G>T	c.(646-648)gaG>gaT	p.E216D	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	216					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCGAGCCTGAGCAGGGCACCG	0.637																																																	0													38	26	30					9																	139992307		2163	4235	6398	SO:0001583	missense	0			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"endoplasmic reticulum alpha-mannosidase 1", "alpha 1,2-mannosidase", "endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1", "ER alpha 1,2-mannosidase", "Man9GlcNAc2-specific processing alpha-mannosidase"	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.648G>T	9.37:g.139992307G>T	ENSP00000360645:p.Glu216Asp		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E216D	ENST00000371589.4	37	c.648	CCDS7029.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.819|6.819	0.520203|0.520203	0.13005|0.13005	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000535144;ENST00000542372|ENST00000371589	.|T	.|0.72282	.|-0.64	4.85|4.85	-1.79|-1.79	0.07932|0.07932	.|.	.|0.507042	.|0.18095	.|U	.|0.151873	T|T	0.48624|0.48624	0.1510|0.1510	L|L	0.33485|0.33485	1.01|1.01	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.19817	.|0.003;0.002;0.004;0.039	.|B;B;B;B	.|0.23018	.|0.002;0.006;0.003;0.043	T|T	0.12293|0.12293	-1.0553|-1.0553	5|9	.|.	.|.	.|.	-7.315|-7.315	2.1597|2.1597	0.03821|0.03821	0.2005:0.4027:0.2656:0.1313|0.2005:0.4027:0.2656:0.1313	.|.	.|117;180;216;117	.|B4DPS9;B4DR05;Q9UKM7;Q68D80	.|.;.;MA1B1_HUMAN;.	S|D	190;161|216	.|ENSP00000360645:E216D	.|.	A|E	+|+	1|3	0|2	MAN1B1|MAN1B1	139112128|139112128	1.000000|1.000000	0.71417|0.71417	0.032000|0.032000	0.17829|0.17829	0.031000|0.031000	0.12232|0.12232	0.734000|0.734000	0.26101|0.26101	-0.088000|-0.088000	0.12506|0.12506	-0.254000|-0.254000	0.11334|0.11334	GCA|GAG	MAN1B1	-	NULL	ENSG00000177239		0.637	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	-	0	54	0	G	NM_016219		139992307	1	tier1	-	no_errors	ENST00000371589	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.988	T	T	139992307	G	T	139992307	3	4	86	1	0	0	0	0	1	0	0	0	9250	962	34	3	666	3	MAN1B1	9	139992307	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	18062517	139992307	1221124	125	23001											
SEC61A2	55176	genome.wustl.edu	37	chr10	12185143	12185143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggaatcatgtcatcaGattctgcagatcctttctac	9	16	7	9	0	5	2	3	0	2	2	6	3	6	3	1	1	2	2	1	1	2	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:12185143G>T	ENST00000298428.9	+	4	258	c.169G>T	c.(169-171)Gat>Tat	p.D57Y	SEC61A2_ENST00000379051.1_Missense_Mutation_p.D57Y|SEC61A2_ENST00000304267.8_Missense_Mutation_p.D57Y|snoU13_ENST00000458754.1_RNA|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.D57Y|SEC61A2_ENST00000379020.4_Missense_Mutation_p.D57Y|SEC61A2_ENST00000379033.3_Missense_Mutation_p.D35Y	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	57					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CATGTCATCAGATTCTGCAGA	0.398																																																	0													283	257	266					10																	12185143		2203	4300	6503	SO:0001583	missense	0			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.169G>T	10.37:g.12185143G>T	ENSP00000298428:p.Asp57Tyr		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.D57Y	ENST00000298428.9	37	c.169	CCDS7088.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.6|22.6|22.6	4.306561|4.306561|4.306561	0.81247|0.81247|0.81247	.|.|.	.|.|.	ENSG00000065665|ENSG00000065665|ENSG00000065665	ENST00000379051;ENST00000379033;ENST00000441368;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000379017|ENST00000457034|ENST00000418772	.|.|.	.|.|.	.|.|.	5.11|5.11|5.11	5.11|5.11|5.11	0.69529|0.69529|0.69529	Translocon Sec61/SecY, plug domain (1);SecY subunit domain (2);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000006|.|.	T|T|T	0.70500|0.70500|0.70500	0.3231|0.3231|0.3231	L|L|L	0.55213|0.55213|0.55213	1.73|1.73|1.73	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;D;B|.|.	0.63880|.|.	0.026;0.993;0.365|.|.	B;D;P|.|.	0.73708|.|.	0.037;0.981;0.823|.|.	T|T|T	0.68352|0.68352|0.68352	-0.5431|-0.5431|-0.5431	9|5|5	0.72032|.|.	D|.|.	0.01|.|.	.|.|.	17.5239|17.5239|17.5239	0.87794|0.87794|0.87794	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	35;57;57|.|.	F8W773;Q9H9S3-2;Q9H9S3|.|.	.;.;S61A2_HUMAN|.|.	Y|H|I	57;35;57;57;57;57;57|30|2	.|.|.	ENSP00000298428:D57Y|.|.	D|Q|R	+|+|+	1|3|2	0|2|0	SEC61A2|SEC61A2|SEC61A2	12225149|12225149|12225149	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.966000|0.966000|0.966000	0.64601|0.64601|0.64601	9.788000|9.788000|9.788000	0.99064|0.99064|0.99064	2.380000|2.380000|2.380000	0.81148|0.81148|0.81148	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|CAG|AGA	SEC61A2	-	pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	ENSG00000065665		0.398	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1		0	60	0	G	NM_018144		12185143	1			no_errors	ENST00000298428	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	12185143	G	T	12185143	3	4	86	1	0	0	0	0	1	0	0	0	14046	942	33	3	183	3	SEC61A2	10	12185143	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		12185143	123349604	126	23002											
SLC39A12	221074	genome.wustl.edu	37	chr10	18276412	18276412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcctttgacttagaataCggctacagcacggtggctgt	9	12	10	10	2	1	2	0	1	1	1	2	2	1	2	1	3	3	3	1	3	4	4	rs549777540		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:18276412C>T	ENST00000377369.2	+	7	1374	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	SLC39A12_ENST00000377374.4_Silent_p.Y367Y|SLC39A12_ENST00000377371.3_Silent_p.Y367Y|SLC39A12_ENST00000539911.1_Silent_p.Y233Y	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	367					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACTTAGAATACGGCTACAGCA	0.527													C|||	1	0.000199681	0	0	5008	,	,		18388	0		0	False		,,,				2504	0.001																0													93	68	77					10																	18276412		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1101C>T	10.37:g.18276412C>T			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	pfam_ZIP	p.Y367	ENST00000377369.2	37	c.1101	CCDS44362.1	10																																																																																			SLC39A12	-	NULL	ENSG00000148482		0.527	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding			0	32	0	C	NM_152725		18276412	1			no_errors	ENST00000377369	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T	T	18276412	C	T	18276412	2	4	86	1	0	0	0	0	0	0	0	1	14660	547	19	1		1	SLC39A12	10	18276412	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	6091269	18276412	117258335	127	23003											
GPR158	57512	genome.wustl.edu	37	chr10	25861813	25861813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggactacatgacagcaGttggtatgtggtcacttgtt	8	13	13	7	0	1	1	1	1	0	0	1	2	1	2	0	3	2	5	0	3	2	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:25861813G>A	ENST00000376351.3	+	7	2109	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	584					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CATGACAGCAGTTGGTATGTG	0.413																																																	0													117	94	102					10																	25861813		2203	4300	6503	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.1750G>A	10.37:g.25861813G>A	ENSP00000365529:p.Val584Ile		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.V584I	ENST00000376351.3	37	c.1750	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390666	0.42410	.	.	ENSG00000151025	ENST00000376351	D	0.87256	-2.23	5.67	2.15	0.27550	GPCR, family 3, C-terminal (2);	0.415223	0.22207	N	0.063159	T	0.79822	0.4512	L	0.31207	0.915	0.34734	D	0.730044	B	0.24675	0.109	B	0.34180	0.177	T	0.74771	-0.3552	10	0.22706	T	0.39	.	9.6718	0.40017	0.3942:0.0:0.6058:0.0	.	584	Q5T848	GP158_HUMAN	I	584	ENSP00000365529:V584I	ENSP00000365529:V584I	V	+	1	0	GPR158	25901819	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.735000	0.38176	0.656000	0.30886	0.557000	0.71058	GTT	GPR158	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000151025		0.413	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	36	0	G	XM_166110		25861813	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	20.45	35	9	SNP	0.989	A	A	25861813	G	A	25861813	3	1	86	1	0	0	0	0	1	0	0	0	6689	1029	36	3	1776	3	GPR158	10	25861813	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	7585401	25861813	109672934	128	23004											
WAC	51322	genome.wustl.edu	37	chr10	28899699	28899699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttactgctggaccatctGctttcaacataacgtctctg	8	15	6	12	1	4	0	1	0	3	0	5	1	4	1	1	1	5	2	1	1	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:28899699G>A	ENST00000354911.4	+	9	1398	c.1237G>A	c.(1237-1239)Gct>Act	p.A413T	WAC_ENST00000375646.1_Missense_Mutation_p.A261T|WAC_ENST00000347934.4_Missense_Mutation_p.A310T|WAC_ENST00000375664.4_Missense_Mutation_p.A368T|WAC_ENST00000428935.1_Missense_Mutation_p.A368T	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	413					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGGACCATCTGCTTTCAACAT	0.363																																																	0													178	171	174					10																	28899699		2203	4300	6503	SO:0001583	missense	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1237G>A	10.37:g.28899699G>A	ENSP00000346986:p.Ala413Thr		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.A413T	ENST00000354911.4	37	c.1237	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.555692	0.96514	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935	T;T;T;T;T	0.43688	1.53;1.62;1.4;1.52;0.94	5.45	5.45	0.79879	.	0.096961	0.64402	D	0.000001	T	0.55000	0.1893	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.993;0.998	D;D;D;D	0.81914	0.993;0.995;0.984;0.991	T	0.52953	-0.8506	10	0.45353	T	0.12	-18.7691	19.6568	0.95845	0.0:0.0:1.0:0.0	.	368;310;413;368	Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.;.;WAC_HUMAN;.	T	368;261;310;413;368	ENSP00000364816:A368T;ENSP00000364797:A261T;ENSP00000311106:A310T;ENSP00000346986:A413T;ENSP00000399706:A368T	ENSP00000311106:A310T	A	+	1	0	WAC	28939705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.710000	0.92621	0.557000	0.71058	GCT	WAC	-	NULL	ENSG00000095787		0.363	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	-	0	80	0	G	NM_100264		28899699	1	tier1	-	no_errors	ENST00000354911	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	28899699	G	A	28899699	3	1	86	1	0	0	0	0	1	0	0	0	17296	1319	46	3	1271	3	WAC	10	28899699	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	3037886	28899699	106635048	129	23005											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37430816	37430816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctgatgaggctgcatccTtggtggagggaacatctgac	9	9	13	10	0	1	3	0	3	1	0	2	5	2	5	2	4	2	2	2	4	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:37430816T>A	ENST00000602533.1	+	7	922	c.823T>A	c.(823-825)Ttg>Atg	p.L275M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.L275M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.L275M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	331					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCTGCATCCTTGGTGGAGGG	0.473																																																	0													67	67	67					10																	37430816		1881	4126	6007	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.823T>A	10.37:g.37430816T>A	ENSP00000473551:p.Leu275Met		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L275M	ENST00000602533.1	37	c.823		10	.	.	.	.	.	.	.	.	.	.	.	10.89	1.478971	0.26511	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05717	3.4;3.4	0.736	0.736	0.18307	.	.	.	.	.	T	0.13157	0.0319	L	0.46157	1.445	0.09310	N	1	D	0.65815	0.995	D	0.70487	0.969	T	0.18209	-1.0344	9	0.46703	T	0.11	.	3.7666	0.08624	0.0:0.0:0.0:1.0	.	331	Q9BXX3	AN30A_HUMAN	M	275	ENSP00000354432:L275M;ENSP00000363792:L275M	ENSP00000354432:L275M	L	+	1	2	ANKRD30A	37470822	0.925000	0.31364	0.002000	0.10522	0.006000	0.05464	0.181000	0.16880	0.555000	0.29079	0.363000	0.22086	TTG	ANKRD30A	-	NULL	ENSG00000148513		0.473	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	139	0	T	NM_052997		37430816	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	7.81	118	10	SNP	0.003	A	A	37430816	T	A	37430816	3	1	86	1	0	0	0	0	1	0	0	0	658	1606	56	5	849	5	ANKRD30A	10	37430816	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	8531117	37430816	98103931	130	23006											
ZNF488	118738	genome.wustl.edu	37	chr10	48371120	48371120	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagctgtctggactcctCaacactacagacctcgcttg	8	9	11	13	1	2	1	1	0	1	1	4	3	3	3	2	3	3	2	2	3	2	2	rs149528341		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:48371120C>A	ENST00000395702.2	+	2	815	c.588C>A	c.(586-588)ctC>ctA	p.L196L	ZNF488_ENST00000586537.1_Silent_p.L89L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	196					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L196L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CTGGACTCCTCAACACTACAG	0.532																																																	1	Substitution - coding silent(1)	lung(1)											116	109	111					10																	48371120		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"Zinc fingers, C2H2-type"	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.588C>A	10.37:g.48371120C>A			Q05CE0	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L196	ENST00000395702.2	37	c.588	CCDS7217.1	10																																																																																			ZNF488	-	NULL	ENSG00000165388		0.532	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF488	HGNC	protein_coding	OTTHUMT00000314632.1		0	50	0	C	NM_153034		48371120	1			no_errors	ENST00000395702	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.001	A	A	48371120	C	A	48371120	2	1	86	1	0	0	0	0	0	0	0	1	17988	813	29	3		3	ZNF488	10	48371120	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	10940304	48371120	87163627	131	23007											
MYPN	84665	genome.wustl.edu	37	chr10	69881426	69881426	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattagacgaaagtgtcaaTttggcaagactggccatcaa	15	9	10	7	1	2	2	2	0	0	2	2	4	2	2	1	2	0	1	1	2	6	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:69881426T>A	ENST00000358913.5	+	2	719	c.231T>A	c.(229-231)aaT>aaA	p.N77K	MYPN_ENST00000373675.3_Missense_Mutation_p.N77K|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.N77K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	77	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAAGTGTCAATTTGGCAAGAC	0.478																																																	0													53	53	53					10																	69881426		2203	4300	6503	SO:0001583	missense	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.231T>A	10.37:g.69881426T>A	ENSP00000351790:p.Asn77Lys		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N77K	ENST00000358913.5	37	c.231	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329587	0.60743	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.66099	0.22;0.19;-0.19	5.5	1.79	0.24919	.	0.095223	0.64402	D	0.000001	T	0.69387	0.3105	L	0.60455	1.87	0.34302	D	0.684524	D;D	0.71674	0.998;0.988	D;P	0.66351	0.943;0.681	T	0.73241	-0.4045	9	.	.	.	.	8.6948	0.34289	0.0:0.3932:0.0:0.6068	.	77;77	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	K	77	ENSP00000351790:N77K;ENSP00000441668:N77K;ENSP00000362779:N77K	.	N	+	3	2	MYPN	69551432	0.996000	0.38824	0.998000	0.56505	0.970000	0.65996	0.338000	0.19858	0.138000	0.18790	0.533000	0.62120	AAT	MYPN	-	NULL	ENSG00000138347		0.478	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	-	0	61	0	T	NM_032578		69881426	1	tier1	-	no_errors	ENST00000358913	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	69881426	T	A	69881426	3	1	86	1	0	0	0	0	1	0	0	0	10136	1490	52	5	233	5	MYPN	10	69881426	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	21510306	69881426	65653321	132	23008											
PRF1	5551	genome.wustl.edu	37	chr10	72358125	72358125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttattgtcccacacggtgCtcgtcctcagctcctggcca	5	12	9	15	2	1	0	1	0	0	0	5	0	4	0	4	2	2	3	4	2	1	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:72358125C>T	ENST00000441259.1	-	3	1512	c.1352G>A	c.(1351-1353)aGc>aAc	p.S451N	PRF1_ENST00000373209.2_Missense_Mutation_p.S451N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	451	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCACACGGTGCTCGTCCTCAG	0.602			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																														yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													70	72	71					10																	72358125		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.1352G>A	10.37:g.72358125C>T	ENSP00000398568:p.Ser451Asn		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom	p.S451N	ENST00000441259.1	37	c.1352	CCDS7305.1	10	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.613245	0.00835	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	T;T	0.69926	-0.44;-0.44	5.6	-11.2	0.00127	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	2.439520	0.01049	N	0.004423	T	0.54351	0.1853	L	0.42487	1.325	0.09310	N	1	B	0.14012	0.009	B	0.13407	0.009	T	0.39921	-0.9590	10	0.16896	T	0.51	-0.0934	14.4199	0.67175	0.0:0.5661:0.2285:0.2053	.	451	P14222	PERF_HUMAN	N	451	ENSP00000362305:S451N;ENSP00000398568:S451N	ENSP00000316746:S451N	S	-	2	0	PRF1	72028131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.675000	0.00105	-3.078000	0.00251	-1.264000	0.01445	AGC	PRF1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000180644		0.602	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	-	0	52	0	C	NM_005041		72358125	-1	tier1	-	no_errors	ENST00000373209	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.000	T	T	72358125	C	T	72358125	3	4	86	1	0	0	0	0	1	0	0	0	12520	797	28	3	319	3	PRF1	10	72358125	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	2476699	72358125	63176622	133	23009											
GRID1	2894	genome.wustl.edu	37	chr10	87615841	87615841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggcttagtggatttcCgtatgcagttgaggctcgcc	6	13	12	10	2	0	1	0	1	0	0	3	2	2	2	3	3	1	5	3	3	2	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:87615841C>A	ENST00000327946.7	-	7	1143	c.1058G>T	c.(1057-1059)cGg>cTg	p.R353L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	353					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGTGGATTTCCGTATGCAGTT	0.547										Multiple Myeloma(13;0.14)																																							0													169	136	147					10																	87615841		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1058G>T	10.37:g.87615841C>A	ENSP00000330148:p.Arg353Leu		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R353L	ENST00000327946.7	37	c.1058	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019060	0.75275	.	.	ENSG00000182771	ENST00000327946	T	0.12774	2.65	5.34	5.34	0.76211	Extracellular ligand-binding receptor (1);	0.092556	0.64402	D	0.000001	T	0.24928	0.0605	L	0.56769	1.78	0.80722	D	1	P	0.47409	0.895	P	0.48400	0.576	T	0.00641	-1.1631	10	0.62326	D	0.03	.	18.0162	0.89241	0.0:1.0:0.0:0.0	.	353	Q9ULK0	GRID1_HUMAN	L	353	ENSP00000330148:R353L	ENSP00000330148:R353L	R	-	2	0	GRID1	87605821	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.956000	0.56722	2.501000	0.84356	0.655000	0.94253	CGG	GRID1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000182771		0.547	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3		0	61	0	C	XM_043613		87615841	-1			no_errors	ENST00000327946	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	87615841	C	A	87615841	3	1	86	1	0	0	0	0	1	0	0	0	6798	652	23	2	2011	2	GRID1	10	87615841	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	15257716	87615841	47918906	134	23010											
SLIT1	6585	genome.wustl.edu	37	chr10	98808783	98808783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccggggactggcacagCgggcaccactcgtctcgatg	6	5	16	14	5	1	0	0	0	1	0	3	2	1	1	2	5	1	2	2	5	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:98808783C>T	ENST00000266058.4	-	14	1639	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	SLIT1_ENST00000371070.4_Missense_Mutation_p.R465H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	465	LRRCT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTGGCACAGCGGGCACCACT	0.627																																																	0													94	84	88					10																	98808783		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"slit (Drosophila) homolog 1"	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1394G>A	10.37:g.98808783C>T	ENSP00000266058:p.Arg465His		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R465H	ENST00000266058.4	37	c.1394	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.184858	0.94885	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371070;ENST00000314867	D;D;T	0.81996	-1.56;-1.56;0.63	5.14	5.14	0.70334	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91666	0.7366	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.92493	0.6002	10	0.87932	D	0	.	18.7937	0.91985	0.0:1.0:0.0:0.0	.	475;465	E7EWQ8;O75093	.;SLIT1_HUMAN	H	465;475;465;458	ENSP00000266058:R465H;ENSP00000360109:R465H;ENSP00000315005:R458H	ENSP00000266058:R465H	R	-	2	0	SLIT1	98798773	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.647000	0.83462	2.662000	0.90505	0.557000	0.71058	CGC	SLIT1	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C	ENSG00000187122		0.627	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0	83	0	C	NM_003061		98808783	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	missense	14.49	59	10	SNP	1.000	T	T	98808783	C	T	98808783	3	4	86	1	0	0	0	0	1	0	0	0	14784	768	27	1	3306	1	SLIT1	10	98808783	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	11192942	98808783	36725964	135	23011											
RRP12	23223	genome.wustl.edu	37	chr10	99129214	99129214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttggccaggtgcgccaCgtccatgacagtcactgcca	8	9	11	13	2	1	1	1	1	0	0	2	1	2	1	4	2	2	1	4	2	0	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr10:99129214C>T	ENST00000370992.4	-	25	3034	c.2923G>A	c.(2923-2925)Gtg>Atg	p.V975M	RRP12_ENST00000414986.1_Missense_Mutation_p.V914M|RRP12_ENST00000315563.6_Missense_Mutation_p.V875M|RRP12_ENST00000536831.1_Missense_Mutation_p.V693M|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	975						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGTGCGCCACGTCCATGACA	0.612																																																	0													101	68	79					10																	99129214		2203	4300	6503	SO:0001583	missense	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2923G>A	10.37:g.99129214C>T	ENSP00000360031:p.Val975Met		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.V975M	ENST00000370992.4	37	c.2923	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	C	0.694	-0.793518	0.02862	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.2	2.26	0.28386	Armadillo-like helical (1);Armadillo-type fold (1);	0.482593	0.23949	N	0.042962	T	0.48277	0.1491	L	0.50333	1.59	0.09310	N	1	P;P;P;B	0.40602	0.54;0.609;0.723;0.007	B;B;B;B	0.30029	0.032;0.091;0.11;0.003	T	0.35126	-0.9801	10	0.48119	T	0.1	-8.55	10.2164	0.43170	0.0:0.6026:0.0:0.3974	.	914;875;693;975	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	M	975;875;914;693	ENSP00000360031:V975M;ENSP00000324315:V875M;ENSP00000414863:V914M;ENSP00000446184:V693M	ENSP00000324315:V875M	V	-	1	0	RRP12	99119204	0.100000	0.21855	0.001000	0.08648	0.003000	0.03518	0.837000	0.27558	0.213000	0.20722	-1.134000	0.01955	GTG	RRP12	-	superfamily_ARM-type_fold	ENSG00000052749		0.612	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4		0	20	0	C	NM_015179		99129214	-1			no_errors	ENST00000370992	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.001	T	T	99129214	C	T	99129214	3	4	86	1	0	0	0	0	1	0	0	0	13731	536	19	1	1010	1	RRP12	10	99129214	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	320431	99129214	36405533	136	23012											
AP2A2	161	genome.wustl.edu	37	chr11	994158	994158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagggccccagcacGgtgacagacctggaggacac	14	2	14	11	1	0	4	0	1	0	3	0	6	0	6	3	4	1	1	3	4	3	0	rs540330346		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:994158G>A	ENST00000448903.2	+	14	2010	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	AP2A2_ENST00000332231.5_Silent_p.T624T|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	623					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCAGCACGGTGACAGACC	0.637																																																	0													59	73	68					11																	994158		2032	4154	6186	SO:0001819	synonymous_variant	0			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1869G>A	11.37:g.994158G>A			O75403|Q53ET1|Q96SI8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.T624	ENST00000448903.2	37	c.1872	CCDS44512.1	11																																																																																			AP2A2	-	pirsf_AP2_complex_asu	ENSG00000183020		0.637	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2		0	54	0	G	NM_012305		994158	1			no_errors	ENST00000332231	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.083	A	A	994158	G	A	994158	2	1	86	1	0	0	0	0	0	0	0	1	740	1103	39	1		1	AP2A2	11	994158	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		994158	134012358	137	23013											
MUC5B	727897	genome.wustl.edu	37	chr11	1280192	1280192	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgcaaccttcccaggCgcccttccctgccacatgtg	5	10	10	16	1	0	0	0	0	0	0	2	0	2	0	5	2	3	2	5	2	1	3	rs540837204		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:1280192C>A	ENST00000529681.1	+	44	16672	c.16614C>A	c.(16612-16614)ggC>ggA	p.G5538G	MUC5B_ENST00000447027.1_Silent_p.G5541G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5538	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTCCCAGGCGCCCTTCCCT	0.642																																																	0													41	48	46					11																	1280192		1906	4021	5927	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.16614C>A	11.37:g.1280192C>A			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.G5541	ENST00000529681.1	37	c.16623	CCDS44515.2	11																																																																																			MUC5B	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000117983		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	59	0	C	XM_001126093		1280192	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	34.38	21	11	SNP	0.000	A	A	1280192	C	A	1280192	2	1	86	1	0	0	0	0	0	0	0	1	10017	755	27	2		2	MUC5B	11	1280192	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	286034	1280192	133726324	138	23014											
CDKN1C	1028	genome.wustl.edu	37	chr11	2906386	2906386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggctgacagccaccgCgaccgcgacgggccgcggcg	5	1	19	16	9	0	1	0	1	0	0	0	3	0	1	4	4	1	1	4	4	0	0	rs483352976		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:2906386C>T	ENST00000414822.3	-	1	725	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	CDKN1C_ENST00000313407.6_Missense_Mutation_p.A101T|CDKN1C_ENST00000380725.1_Intron|CDKN1C_ENST00000430149.2_Missense_Mutation_p.A112T|CDKN1C_ENST00000440480.2_Missense_Mutation_p.A101T	NM_000076.2	NP_000067.1	P49918	CDN1C_HUMAN	cyclin-dependent kinase inhibitor 1C (p57, Kip2)	112					adrenal gland development (GO:0030325)|aging (GO:0007568)|camera-type eye development (GO:0043010)|cell cycle arrest (GO:0007050)|digestive system development (GO:0055123)|embryonic placenta morphogenesis (GO:0060669)|genetic imprinting (GO:0071514)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|myeloid cell differentiation (GO:0030099)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of kinase activity (GO:0033673)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|skeletal system development (GO:0001501)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGCCACCGCGACCGCGACG	0.766																																					GBM(111;59 1151 2497 5746 16112 18241 29216)												0													2	2	2					11																	2906386		1405	2729	4134	SO:0001583	missense	0			D64137	CCDS7738.1, CCDS44519.1	11p15.5	2014-09-17	2004-02-13		ENSG00000129757	ENSG00000129757			1786	protein-coding gene	gene with protein product		600856	"Beckwith-Wiedemann syndrome"	BWCR, BWS		7729684	Standard	NM_000076		Approved	P57, KIP2	uc001lws.4	P49918	OTTHUMG00000010040	ENST00000414822.3:c.334G>A	11.37:g.2906386C>T	ENSP00000413720:p.Ala112Thr			Missense_Mutation	SNP	pfam_CDI	p.A112T	ENST00000414822.3	37	c.334	CCDS7738.1	11	.	.	.	.	.	.	.	.	.	.	c	13.39	2.224162	0.39300	.	.	ENSG00000129757	ENST00000414822;ENST00000440480;ENST00000313407;ENST00000430149	D;D;D;D	0.91351	-2.5;-2.83;-2.83;-2.5	1.87	0.936	0.19488	.	.	.	.	.	T	0.78426	0.4281	L	0.29908	0.895	0.09310	N	1	B	0.31209	0.313	B	0.12156	0.007	T	0.62914	-0.6753	9	0.14656	T	0.56	.	3.8251	0.08851	0.2357:0.6144:0.0:0.1498	.	112	P49918	CDN1C_HUMAN	T	112;101;101;112	ENSP00000413720:A112T;ENSP00000411257:A101T;ENSP00000321019:A101T;ENSP00000411552:A112T	ENSP00000321019:A101T	A	-	1	0	CDKN1C	2862962	0.000000	0.05858	0.002000	0.10522	0.698000	0.40448	0.234000	0.17930	0.381000	0.24851	0.298000	0.19748	GCG	CDKN1C	-	NULL	ENSG00000129757		0.766	CDKN1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDKN1C	HGNC	protein_coding	OTTHUMT00000027774.2		0	31	0	C	NM_000076		2906386	-1			no_errors	ENST00000414822	ensembl	human	known	74_37	missense	38.89	10	7	SNP	0.004	T	T	2906386	C	T	2906386	3	4	86	1	0	0	0	0	1	0	0	0	3167	768	27	1	624	1	CDKN1C	11	2906386	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1626194	2906386	132100130	139	23015											
OR52I2	143502	genome.wustl.edu	37	chr11	4608198	4608198	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtatcccaggactgcaatcTtcacatctttggctggctat	8	13	9	11	0	3	0	1	0	2	0	4	1	4	1	1	4	1	4	1	4	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:4608198T>G	ENST00000312614.4	+	1	178	c.156T>G	c.(154-156)tcT>tcG	p.S52S		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACTGCAATCTTCACATCTTT	0.493																																																	0													197	198	197					11																	4608198		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"GPCR / Class A : Olfactory receptors"	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.156T>G	11.37:g.4608198T>G			B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S52	ENST00000312614.4	37	c.156	CCDS31355.1	11																																																																																			OR52I2	-	NULL	ENSG00000226288		0.493	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52I2	HGNC	protein_coding	OTTHUMT00000385946.1	-	0	77	0	T	NM_001005170		4608198	1	tier1	-	no_errors	ENST00000312614	ensembl	human	known	74_37	silent	20.75	42	11	SNP	0.078	G	G	4608198	T	G	4608198	2	3	86	1	0	0	0	0	0	0	0	1	11160	1596	56	4		4	OR52I2	11	4608198	Silent	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	1701812	4608198	130398318	140	23016											
OR51M1	390059	genome.wustl.edu	37	chr11	5411357	5411357	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagcaggcctggcctcccaAgaggagcagcgccgtgcctt	7	6	14	14	2	0	1	0	0	0	1	1	2	1	2	5	3	4	3	5	3	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:5411357A>C	ENST00000328611.3	+	1	751	c.729A>C	c.(727-729)caA>caC	p.Q243H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	243					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCTCCCAAGAGGAGCAGC	0.562																																																	0													116	111	113					11																	5411357		2069	4208	6277	SO:0001583	missense	0			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"GPCR / Class A : Olfactory receptors"	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.729A>C	11.37:g.5411357A>C	ENSP00000333196:p.Gln243His		Q6IF80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q243H	ENST00000328611.3	37	c.729	CCDS53596.1	11	.	.	.	.	.	.	.	.	.	.	A	1.745	-0.490794	0.04322	.	.	ENSG00000184698	ENST00000328611	T	0.00137	8.68	5.24	-2.48	0.06423	GPCR, rhodopsin-like superfamily (1);	1.031050	0.07817	U	0.959210	T	0.00109	0.0003	L	0.35249	1.045	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.01945	-1.1242	10	0.27785	T	0.31	.	9.3094	0.37895	0.4568:0.1067:0.4365:0.0	.	232	Q9H341	O51M1_HUMAN	H	243	ENSP00000333196:Q243H	ENSP00000333196:Q243H	Q	+	3	2	OR51M1	5367933	0.000000	0.05858	0.015000	0.15790	0.010000	0.07245	-1.031000	0.03578	-0.652000	0.05408	-1.139000	0.01908	CAA	OR51M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184698		0.562	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51M1	HGNC	protein_coding	OTTHUMT00000142981.1	-	0	47	0	A	NM_001004756		5411357	1	tier1	-	no_errors	ENST00000328611	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.000	C	C	5411357	A	C	5411357	3	2	86	1	0	0	0	0	1	0	0	0	11142	69	3	4	731	4	OR51M1	11	5411357	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	803159	5411357	129595159	141	23017											
OR52N2	390077	genome.wustl.edu	37	chr11	5841919	5841919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagtctggggtgctcatGctcatggccctggaccgcta	6	10	14	11	1	3	0	2	0	1	0	3	2	3	2	2	5	2	3	2	5	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:5841919G>A	ENST00000317037.2	+	1	376	c.354G>A	c.(352-354)atG>atA	p.M118I	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTGCTCATGCTCATGGCCC	0.537																																																	0													158	129	139					11																	5841919		2201	4296	6497	SO:0001583	missense	0			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"GPCR / Class A : Olfactory receptors"	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.354G>A	11.37:g.5841919G>A	ENSP00000322801:p.Met118Ile		Q6IFF9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M118I	ENST00000317037.2	37	c.354	CCDS31399.1	11	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016194	0.35606	.	.	ENSG00000180988	ENST00000317037	T	0.36157	1.27	5.91	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.074200	0.56097	N	0.000021	T	0.31575	0.0801	L	0.28694	0.88	0.29248	N	0.872179	B	0.06786	0.001	B	0.12837	0.008	T	0.20240	-1.0281	10	0.72032	D	0.01	.	16.9473	0.86232	0.0684:0.0:0.9316:0.0	.	118	Q8NGI0	O52N2_HUMAN	I	118	ENSP00000322801:M118I	ENSP00000322801:M118I	M	+	3	0	OR52N2	5798495	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.143000	0.50608	0.853000	0.35312	-0.797000	0.03246	ATG	OR52N2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180988		0.537	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	HGNC	protein_coding	OTTHUMT00000401143.1		0	49	0	G	NM_001005174		5841919	1			no_errors	ENST00000317037	ensembl	human	known	74_37	missense	6.67	27	2	SNP	1.000	A	A	5841919	G	A	5841919	3	1	86	1	0	0	0	0	1	0	0	0	11167	1319	46	3	356	3	OR52N2	11	5841919	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	430562	5841919	129164597	142	23018											
PLEKHA7	144100	genome.wustl.edu	37	chr11	16877392	16877392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggaggcggtcccagcCgtggatgtttcactgaccat	7	9	15	10	2	1	1	1	1	0	0	2	3	2	3	3	5	1	1	3	5	0	1	rs145257579		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:16877392C>T	ENST00000355661.3	-	5	385	c.375G>A	c.(373-375)acG>acA	p.T125T	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.T125T|PLEKHA7_ENST00000448080.2_Silent_p.T125T			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	125					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGGTCCCAGCCGTGGATGTTT	0.542													C|||	1	0.000199681	0	0	5008	,	,		18434	0		0	False		,,,				2504	0.001																0								C		0,4400		0,0,2200	184	177	179		375	-9.8	0.4	11	dbSNP_134	179	5,8583	4.3+/-15.6	0,5,4289	no	coding-synonymous	PLEKHA7	NM_175058.4		0,5,6489	TT,TC,CC		0.0582,0.0,0.0385		125/1122	16877392	5,12983	2200	4294	6494	SO:0001819	synonymous_variant	0			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"Pleckstrin homology (PH) domain containing"	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.375G>A	11.37:g.16877392C>T			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.T125	ENST00000355661.3	37	c.375	CCDS31434.1	11																																																																																			PLEKHA7	-	NULL	ENSG00000166689		0.542	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	-	0	51	0	C	NM_175058		16877392	-1	tier1	rs145257579	no_errors	ENST00000448080	ensembl	human	known	74_37	silent	22.50	31	9	SNP	0.029	T	T	16877392	C	T	16877392	2	4	86	1	0	0	0	0	0	0	0	1	12100	639	23	1		1	PLEKHA7	11	16877392	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	11035473	16877392	118129124	143	23019											
SLC6A5	9152	genome.wustl.edu	37	chr11	20628637	20628637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtcgctgggccagtttgCcagccagggaccagtgtctg	5	9	16	11	1	1	0	0	0	1	0	2	1	1	1	4	3	2	2	4	3	0	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:20628637C>T	ENST00000525748.1	+	4	1037	c.764C>T	c.(763-765)gCc>gTc	p.A255V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	255					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.A255V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGCCAGTTTGCCAGCCAGGGA	0.572																																																	1	Substitution - Missense(1)	prostate(1)											93	83	86					11																	20628637		2203	4300	6503	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.764C>T	11.37:g.20628637C>T	ENSP00000434364:p.Ala255Val		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A255V	ENST00000525748.1	37	c.764	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.499525	0.96355	.	.	ENSG00000165970	ENST00000525748	T	0.74737	-0.87	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.45051	1.395	0.80722	D	1	D	0.54601	0.967	P	0.62014	0.897	T	0.82319	-0.0516	10	0.66056	D	0.02	.	19.456	0.94889	0.0:1.0:0.0:0.0	.	255	Q9Y345	SC6A5_HUMAN	V	255	ENSP00000434364:A255V	ENSP00000434364:A255V	A	+	2	0	SLC6A5	20585213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	GCC	SLC6A5	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000165970		0.572	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0	61	0	C	NM_004211		20628637	1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	20628637	C	T	20628637	3	4	86	1	0	0	0	0	1	0	0	0	14732	739	26	3	778	3	SLC6A5	11	20628637	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	3751245	20628637	114377879	144	23020											
WT1	7490	genome.wustl.edu	37	chr11	32456254	32456254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctacttaccctgattgCgaatagcgggctggctctcg	6	10	12	13	4	1	1	0	1	1	0	2	2	1	1	2	3	4	2	2	3	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:32456254C>A	ENST00000332351.3	-	1	922	c.638G>T	c.(637-639)cGc>cTc	p.R213L	WT1-AS_ENST00000459866.1_RNA|WT1_ENST00000448076.3_Missense_Mutation_p.R213L|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000395900.1_RNA|WT1-AS_ENST00000525436.1_RNA	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	145					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACCCTGATTGCGAATAGCGGG	0.677			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																														yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0													18	21	20					11																	32456254		2196	4283	6479	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000332351.3:c.638G>T	11.37:g.32456254C>A	ENSP00000331327:p.Arg213Leu		A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour	p.R213L	ENST00000332351.3	37	c.638	CCDS7878.2	11	.	.	.	.	.	.	.	.	.	.	C	30	5.049957	0.93740	.	.	ENSG00000184937	ENST00000332351;ENST00000452863;ENST00000448076	D;D;D	0.89552	-2.53;-2.53;-2.53	3.24	3.24	0.37175	Wilm&apos (1);s tumour protein, N-terminal (1);	0.000000	0.64402	U	0.000004	D	0.90707	0.7084	L	0.54323	1.7	0.80722	D	1	D;D;D	0.63880	0.993;0.968;0.993	P;P;P	0.59171	0.853;0.851;0.853	D	0.91419	0.5157	10	0.87932	D	0	.	12.0933	0.53739	0.0:1.0:0.0:0.0	.	218;145;218	P19544-8;P19544;P19544-7	.;WT1_HUMAN;.	L	213	ENSP00000331327:R213L;ENSP00000415516:R213L;ENSP00000413452:R213L	ENSP00000331327:R213L	R	-	2	0	WT1	32412830	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.918000	0.75788	1.795000	0.52594	0.462000	0.41574	CGC	WT1	-	pfam_Wilms_tumour_N	ENSG00000184937		0.677	WT1-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	WT1	HGNC	protein_coding	OTTHUMT00000095436.2	-	0	40	0	C	NM_000378		32456254	-1	tier1	-	no_errors	ENST00000332351	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	A	A	32456254	C	A	32456254	3	1	86	1	0	0	0	0	1	0	0	0	17457	768	27	2	955	2	WT1	11	32456254	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	11827617	32456254	102550262	145	23021											
AMBRA1	55626	genome.wustl.edu	37	chr11	46515709	46515709	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagcgaaggtgcagacatCcgggcattgcgtggagctcg	9	6	15	11	4	0	1	0	0	0	1	2	3	1	2	2	3	4	3	2	3	2	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:46515709C>A	ENST00000458649.2	-	10	2803	c.2385G>T	c.(2383-2385)cgG>cgT	p.R795R	AMBRA1_ENST00000298834.3_Silent_p.R735R|AMBRA1_ENST00000528950.1_Silent_p.R766R|AMBRA1_ENST00000426438.1_Silent_p.R766R|AMBRA1_ENST00000534300.1_Silent_p.R735R|AMBRA1_ENST00000533727.1_Silent_p.R676R|AMBRA1_ENST00000314845.3_Silent_p.R705R|AMBRA1_ENST00000529963.1_5'UTR			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	795					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTGCAGACATCCGGGCATTGC	0.473																																																	0													56	50	52					11																	46515709		2201	4299	6500	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2385G>T	11.37:g.46515709C>A			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R795	ENST00000458649.2	37	c.2385		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.473	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	40	0	C	NM_017749		46515709	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	silent	12.50	35	5	SNP	0.874	A	A	46515709	C	A	46515709	2	1	86	1	0	0	0	0	0	0	0	1	565	842	30	3		3	AMBRA1	11	46515709	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	14059455	46515709	88490807	146	23022											
OR4C12	283093	genome.wustl.edu	37	chr11	50003816	50003816	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaatcaacttaggagctgaAgaagaagaataaactgtgtc	18	8	9	6	0	1	4	1	1	0	3	2	5	1	5	0	1	3	1	0	1	9	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:50003816A>G	ENST00000335238.4	-	1	255	c.222T>C	c.(220-222)tcT>tcC	p.S74S		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAGGAGCTGAAGAAGAAGAAT	0.433																																																	0													71	74	73					11																	50003816		2201	4296	6497	SO:0001819	synonymous_variant	0			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"GPCR / Class A : Olfactory receptors"	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.222T>C	11.37:g.50003816A>G			B2RNF0|Q6IF49	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S74	ENST00000335238.4	37	c.222	CCDS31496.1	11																																																																																			OR4C12	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221954		0.433	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	-	0	77	0	A	NM_001005270		50003816	-1	tier1	-	no_errors	ENST00000335238	ensembl	human	known	74_37	silent	23.75	61	19	SNP	0.000	G	G	50003816	A	G	50003816	2	3	86	1	0	0	0	0	0	0	0	1	11085	59	3	4		4	OR4C12	11	50003816	Silent	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	3488107	50003816	85002700	147	23023											
OR4A16	81327	genome.wustl.edu	37	chr11	55111323	55111323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttctgctaatctcctGtggagtcatcctaaacttcc	8	15	5	13	0	3	0	1	0	2	0	6	1	5	1	4	1	3	1	4	1	4	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:55111323G>T	ENST00000314721.2	+	1	697	c.647G>T	c.(646-648)tGt>tTt	p.C216F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTAATCTCCTGTGGAGTCATC	0.438																																																	0													179	165	170					11																	55111323		2201	4296	6497	SO:0001583	missense	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.647G>T	11.37:g.55111323G>T	ENSP00000325128:p.Cys216Phe		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C216F	ENST00000314721.2	37	c.647	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	a	0.574	-0.840116	0.02692	.	.	ENSG00000181961	ENST00000314721	T	0.00032	8.88	2.54	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.14661	0.345	0.21220	N	0.999757	B	0.02656	0.0	B	0.09377	0.004	T	0.21042	-1.0257	9	0.87932	D	0	.	6.1964	0.20552	0.8606:0.0:0.1394:0.0	.	216	Q8NH70	O4A16_HUMAN	F	216	ENSP00000325128:C216F	ENSP00000325128:C216F	C	+	2	0	OR4A16	54867899	0.998000	0.40836	0.373000	0.26003	0.026000	0.11368	4.159000	0.58157	0.179000	0.19938	-1.286000	0.01371	TGT	OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181961		0.438	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1		0	50	0	G	NM_001005274		55111323	1			no_errors	ENST00000314721	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.637	T	T	55111323	G	T	55111323	3	4	86	1	0	0	0	0	1	0	0	0	11080	1377	48	3	649	3	OR4A16	11	55111323	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	5107507	55111323	79895193	148	23024											
OR4C6	219432	genome.wustl.edu	37	chr11	55432669	55432669	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaaaacaatgtgactgaAttcattcttctgggtctcac	13	13	6	9	0	5	2	3	2	3	0	6	2	5	2	0	1	1	0	0	1	5	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:55432669A>C	ENST00000314259.3	+	1	56	c.27A>C	c.(25-27)gaA>gaC	p.E9D		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATGTGACTGAATTCATTCTTC	0.368																																																	0													111	105	107					11																	55432669		2200	4296	6496	SO:0001583	missense	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.27A>C	11.37:g.55432669A>C	ENSP00000324769:p.Glu9Asp		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E9D	ENST00000314259.3	37	c.27	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	8.253	0.809440	0.16537	.	.	ENSG00000181903	ENST00000314259	T	0.00566	6.55	3.83	-0.887	0.10587	.	0.589948	0.14075	N	0.343150	T	0.00637	0.0021	M	0.73319	2.225	0.22127	N	0.999347	B	0.20164	0.042	B	0.26614	0.071	T	0.44544	-0.9321	10	0.62326	D	0.03	.	2.9909	0.05982	0.5389:0.0:0.281:0.1802	.	9	Q8NH72	OR4C6_HUMAN	D	9	ENSP00000324769:E9D	ENSP00000324769:E9D	E	+	3	2	OR4C6	55189245	0.000000	0.05858	0.978000	0.43139	0.074000	0.17049	-2.016000	0.01446	-0.545000	0.06224	-0.565000	0.04167	GAA	OR4C6	-	NULL	ENSG00000181903		0.368	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	-	0	31	0	A	NM_001004704		55432669	1	tier1	-	no_errors	ENST00000314259	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.975	C	C	55432669	A	C	55432669	3	2	86	1	0	0	0	0	1	0	0	0	11091	98	4	4	29	4	OR4C6	11	55432669	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	321346	55432669	79573847	149	23025											
OR5W2	390148	genome.wustl.edu	37	chr11	55681987	55681987	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacagcaaatagggtcacTttcatctctgggttattggt	11	14	9	7	0	3	0	2	0	1	0	4	0	3	0	0	3	2	2	0	3	5	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:55681987T>G	ENST00000344514.1	-	1	71	c.72A>C	c.(70-72)aaA>aaC	p.K24N		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAGGGTCACTTTCATCTCTG	0.353																																					Melanoma(48;171 1190 15239 43886 49348)												0													57	59	59					11																	55681987		2201	4296	6497	SO:0001583	missense	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.72A>C	11.37:g.55681987T>G	ENSP00000342448:p.Lys24Asn			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K24N	ENST00000344514.1	37	c.72	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699023	0.30142	.	.	ENSG00000187612	ENST00000344514	T	0.00446	7.39	5.01	-3.89	0.04193	.	0.175040	0.27340	N	0.019811	T	0.00210	0.0006	L	0.31065	0.9	0.09310	N	1	B	0.18310	0.027	B	0.24394	0.053	T	0.47886	-0.9082	10	0.62326	D	0.03	.	4.1875	0.10405	0.3379:0.3134:0.0:0.3487	.	24	Q8NH69	OR5W2_HUMAN	N	24	ENSP00000342448:K24N	ENSP00000342448:K24N	K	-	3	2	OR5W2	55438563	.	.	0.001000	0.08648	0.046000	0.14306	.	.	-0.322000	0.08615	-0.548000	0.04221	AAA	OR5W2	-	NULL	ENSG00000187612		0.353	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	-	0	58	0	T	NM_001001960		55681987	-1	tier1	-	no_errors	ENST00000344514	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.000	G	G	55681987	T	G	55681987	3	3	86	1	0	0	0	0	1	0	0	0	11224	1606	56	4	862	4	OR5W2	11	55681987	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	249318	55681987	79324529	150	23026											
OR8K5	219453	genome.wustl.edu	37	chr11	55927568	55927568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccttgggacaaatgaCagtagaattaccaagatcaa	17	7	8	9	0	1	3	1	1	0	2	1	4	1	4	2	1	2	2	2	1	6	3	rs374506844		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:55927568C>A	ENST00000313447.1	-	1	225	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GGACAAATGACAGTAGAATTA	0.378																																																	0													107	106	106					11																	55927568		2201	4296	6497	SO:0001583	missense	0			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.226G>T	11.37:g.55927568C>A	ENSP00000323853:p.Val76Phe		Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V76F	ENST00000313447.1	37	c.226	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903887	0.52333	.	.	ENSG00000181752	ENST00000313447	T	0.00558	6.61	3.88	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01353	0.0044	M	0.70787	2.145	0.09310	N	1	D	0.56746	0.977	P	0.55011	0.766	T	0.48269	-0.9050	9	0.87932	D	0	.	10.3217	0.43769	0.0:0.8976:0.0:0.1024	.	76	Q8NH50	OR8K5_HUMAN	F	76	ENSP00000323853:V76F	ENSP00000323853:V76F	V	-	1	0	OR8K5	55684144	0.000000	0.05858	0.448000	0.26945	0.979000	0.70002	-1.368000	0.02580	2.155000	0.67459	0.567000	0.79289	GTC	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181752		0.378	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	-	0	43	0	C	NM_001004058		55927568	-1	tier1	-	no_errors	ENST00000313447	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.002	A	A	55927568	C	A	55927568	3	1	86	1	0	0	0	0	1	0	0	0	11284	478	17	3	700	3	OR8K5	11	55927568	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	245581	55927568	79078948	151	23027											
OR8H1	219469	genome.wustl.edu	37	chr11	56058343	56058343	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgaggtcaataaatgacaAgtgagtaaggaaaaaataca	21	7	9	4	0	1	3	1	3	0	0	1	4	1	4	0	2	1	1	0	2	9	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:56058343A>C	ENST00000313022.2	-	1	223	c.196T>G	c.(196-198)Ttg>Gtg	p.L66V		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATAAATGACAAGTGAGTAAGG	0.423																																																	0													267	255	259					11																	56058343		2201	4296	6497	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.196T>G	11.37:g.56058343A>C	ENSP00000323595:p.Leu66Val		B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66V	ENST00000313022.2	37	c.196	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	A	9.522	1.108576	0.20714	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00587	6.38	3.94	0.989	0.19802	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	D	0.000937	T	0.03651	0.0104	H	0.96080	3.765	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.11641	-1.0579	10	0.87932	D	0	.	8.0796	0.30737	0.4414:0.0:0.5586:0.0	.	66	Q8NGG4	OR8H1_HUMAN	V	66;62	ENSP00000323595:L66V	ENSP00000323595:L66V	L	-	1	2	OR8H1	55814919	0.008000	0.16893	0.013000	0.15412	0.002000	0.02628	0.136000	0.15974	0.092000	0.17331	-0.245000	0.11935	TTG	OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181693		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	-	0	81	0	A	NM_001005199		56058343	-1	tier1	-	no_errors	ENST00000313022	ensembl	human	known	74_37	missense	20.63	50	13	SNP	0.046	C	C	56058343	A	C	56058343	3	2	86	1	0	0	0	0	1	0	0	0	11276	69	3	4	741	4	OR8H1	11	56058343	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	130775	56058343	78948173	152	23028											
MS4A14	84689	genome.wustl.edu	37	chr11	60164185	60164185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggagagccaagagtctTgggggtaagtcctctccagt	10	8	15	8	0	2	2	0	0	2	2	4	4	3	2	3	3	1	1	3	3	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:60164185T>C	ENST00000300187.6	+	1	411	c.134T>C	c.(133-135)tTg>tCg	p.L45S	MS4A14_ENST00000395005.2_Missense_Mutation_p.L45S|MS4A14_ENST00000531783.1_Missense_Mutation_p.L45S|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	45						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCAAGAGTCTTGGGGGTAAGT	0.423																																																	0													67	59	62					11																	60164185		2203	4300	6503	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"membrane-spanning 4-domains, subfamily A, member 16"	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.134T>C	11.37:g.60164185T>C	ENSP00000300187:p.Leu45Ser		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.L45S	ENST00000300187.6	37	c.134	CCDS31569.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.51|17.51	3.406566|3.406566	0.62399|0.62399	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783|ENST00000534688	T;T;T;T|.	0.56275|.	3.24;0.47;3.24;3.24|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.79563|0.79563	0.4467|0.4467	M|M	0.91768|0.91768	3.24|3.24	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.74348|.	0.972;0.983|.	T|T	0.83322|0.83322	-0.0017|-0.0017	10|5	0.87932|.	D|.	0|.	-7.6901|-7.6901	10.2839|10.2839	0.43556|0.43556	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	45;45|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	S|R	45|4	ENSP00000300187:L45S;ENSP00000378453:L45S;ENSP00000435764:L45S;ENSP00000433761:L45S|.	ENSP00000300187:L45S|.	L|W	+|+	2|1	0|0	MS4A14|MS4A14	59920761|59920761	0.996000|0.996000	0.38824|0.38824	0.542000|0.542000	0.28115|0.28115	0.907000|0.907000	0.53573|0.53573	3.251000|3.251000	0.51453|0.51453	1.924000|1.924000	0.55735|0.55735	0.533000|0.533000	0.62120|0.62120	TTG|TGG	MS4A14	-	pfam_CD20-like	ENSG00000166928		0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2		0	59	0	T			60164185	1			no_errors	ENST00000300187	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.715	C	C	60164185	T	C	60164185	3	2	86	1	0	0	0	0	1	0	0	0	9896	1821	63	4	136	4	MS4A14	11	60164185	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	4105842	60164185	74842331	153	23029											
GPHA2	170589	genome.wustl.edu	37	chr11	64702840	64702840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtactcacggtgcaagtgGcagcctgggatgactgcctc	8	8	14	11	1	1	1	1	1	0	0	2	2	1	2	2	4	4	3	2	4	2	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:64702840G>A	ENST00000279168.2	-	2	147	c.93C>T	c.(91-93)tgC>tgT	p.C31C	GPHA2_ENST00000532246.1_Silent_p.C31C|GPHA2_ENST00000533257.1_Silent_p.C31C	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	31						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|prostate(1)	3						GGTGCAAGTGGCAGCCTGGGA	0.622																																																	0													46	41	43					11																	64702840		2201	4297	6498	SO:0001819	synonymous_variant	0			AF260739	CCDS8086.1	11q13.1	2008-07-18				ENSG00000149735			18054	protein-coding gene	gene with protein product	"glycoprotein alpha 2", "cysteine knot protein"	609651				11809971	Standard	NM_130769		Approved	GPA2, ZSIG51, A2, MGC126572	uc001oca.3	Q96T91		ENST00000279168.2:c.93C>T	11.37:g.64702840G>A			Q52LE2	Silent	SNP	pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone	p.C31	ENST00000279168.2	37	c.93	CCDS8086.1	11																																																																																			GPHA2	-	pfam_DAN,pfscan_Cys_knot_C,pfscan_Glyco_hormone	ENSG00000149735		0.622	GPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPHA2	HGNC	protein_coding	OTTHUMT00000385470.1	-	0	44	0	G	NM_130769		64702840	-1	tier1	-	no_errors	ENST00000279168	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.989	A	A	64702840	G	A	64702840	2	1	86	1	0	0	0	0	0	0	0	1	6634	1195	42	3		3	GPHA2	11	64702840	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	4538655	64702840	70303676	154	23030											
CARNS1	57571	genome.wustl.edu	37	chr11	67191150	67191150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggcccaccctggcctgCgccctccctccatgctgtgc	3	8	9	21	1	0	0	0	0	0	0	2	0	2	0	7	2	3	1	7	2	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:67191150C>T	ENST00000307823.3	+	9	2014	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	CARNS1_ENST00000445895.2_Missense_Mutation_p.A644V|CARNS1_ENST00000531040.1_Missense_Mutation_p.A618V|CARNS1_ENST00000423745.2_Missense_Mutation_p.A521V|CARNS1_ENST00000524740.1_3'UTR	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	521	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCCTGGCCTGCGCCCTCCCTC	0.657																																																	0													18	21	20					11																	67191150		2124	4235	6359	SO:0001583	missense	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1562C>T	11.37:g.67191150C>T	ENSP00000308268:p.Ala521Val		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.A644V	ENST00000307823.3	37	c.1931	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849837	0.32699	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	5.37	4.39	0.52855	ATP-grasp fold (1);	0.165132	0.28618	N	0.014716	D	0.93956	0.8065	L	0.29908	0.895	0.09310	N	1	P;P	0.51791	0.873;0.948	B;B	0.39503	0.27;0.301	D	0.88518	0.3094	10	0.29301	T	0.29	-20.3516	14.4366	0.67284	0.0:0.8514:0.1486:0.0	.	521;660	A5YM72;A5YM72-3	CRNS1_HUMAN;.	V	618;521;618;521;644	ENSP00000431670:A618V;ENSP00000308268:A521V;ENSP00000401519:A521V;ENSP00000389009:A644V	ENSP00000308268:A521V	A	+	2	0	CARNS1	66947726	0.638000	0.27225	0.772000	0.31596	0.919000	0.55068	3.924000	0.56476	2.515000	0.84797	0.549000	0.68633	GCG	CARNS1	-	pfscan_ATP-grasp	ENSG00000172508		0.657	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1		0	38	0	C	NM_020811		67191150	1			no_errors	ENST00000445895	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.170	T	T	67191150	C	T	67191150	3	4	86	1	0	0	0	0	1	0	0	0	2663	768	27	1	1965	1	CARNS1	11	67191150	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	2488310	67191150	67815366	155	23031											
UNC93B1	81622	genome.wustl.edu	37	chr11	67770600	67770600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgccatacttcacctcgCggtaggtctcgtcgtagtgc	5	13	11	12	4	2	0	1	0	1	0	5	0	2	0	2	2	3	3	2	2	3	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:67770600C>A	ENST00000227471.2	-	3	363	c.284G>T	c.(283-285)cGc>cTc	p.R95L	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	95					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											CTTCACCTCGCGGTAGGTCTC	0.617																																																	0													109	113	112					11																	67770600		2179	4275	6454	SO:0001583	missense	0			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"unc93 (C. elegans) homolog B1"			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.284G>T	11.37:g.67770600C>A	ENSP00000227471:p.Arg95Leu		O95764|Q569H6|Q710D4	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.R95L	ENST00000227471.2	37	c.284		11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321275	0.81580	.	.	ENSG00000110057	ENST00000227471;ENST00000528423	T	0.09073	3.02	4.55	4.55	0.56014	.	0.059646	0.64402	D	0.000004	T	0.20740	0.0499	.	.	.	0.52099	D	0.999942	D	0.65815	0.995	P	0.59357	0.856	T	0.01635	-1.1307	9	0.27082	T	0.32	-0.9571	16.2337	0.82360	0.0:1.0:0.0:0.0	.	95	Q9H1C4	UN93B_HUMAN	L	95;24	ENSP00000227471:R95L	ENSP00000227471:R95L	R	-	2	0	UNC93B1	67527176	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.611000	0.82962	2.224000	0.72417	0.561000	0.74099	CGC	UNC93B1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000110057		0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		-	0	25	0	C	NM_030930		67770600	-1	tier1	-	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	A	A	67770600	C	A	67770600	3	1	86	1	0	0	0	0	1	0	0	0	17046	768	27	2	1544	2	UNC93B1	11	67770600	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	579450	67770600	67235916	156	23032											
ATM	472	genome.wustl.edu	37	chr11	108143528	108143528	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtatttacacaatttcTtgctgacaatcatcaccaag	14	13	5	9	0	3	2	2	2	1	0	3	2	3	2	1	0	2	2	1	0	6	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:108143528T>G	ENST00000452508.2	+	23	3422	c.3233T>G	c.(3232-3234)cTt>cGt	p.L1078R	ATM_ENST00000278616.4_Missense_Mutation_p.L1078R			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1078					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ACACAATTTCTTGCTGACAAT	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													139	130	133					11																	108143528		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3233T>G	11.37:g.108143528T>G	ENSP00000388058:p.Leu1078Arg		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1078R	ENST00000452508.2	37	c.3233	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310551	0.81358	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.77489	-1.1;-1.1;-1.1	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	M	0.71581	2.175	0.48762	D	0.999707	D	0.89917	1.0	D	0.91635	0.999	D	0.88748	0.3248	10	0.87932	D	0	.	16.1381	0.81502	0.0:0.0:0.0:1.0	.	1078	Q13315	ATM_HUMAN	R	1078	ENSP00000435747:L1078R;ENSP00000278616:L1078R;ENSP00000388058:L1078R	ENSP00000278616:L1078R	L	+	2	0	ATM	107648738	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.481000	0.73608	2.258000	0.74832	0.533000	0.62120	CTT	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	50	0	T	NM_000051		108143528	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	G	G	108143528	T	G	108143528	3	3	86	1	0	0	0	0	1	0	0	0	1110	1609	56	4	3315	4	ATM	11	108143528	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	40372928	108143528	26862988	157	23033											
APOA4	337	genome.wustl.edu	37	chr11	116692293	116692293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctctccatgcgctgtgCgtagggggtcagctggcgcc	4	9	14	14	3	2	0	1	0	1	0	4	0	3	0	2	3	3	3	2	3	1	1	rs12721043	byFrequency	TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr11:116692293C>T	ENST00000357780.3	-	3	595	c.481G>A	c.(481-483)Gca>Aca	p.A161T		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	161	13 X 22 AA approximate tandem repeats.		A -> S (in Seattle-3). {ECO:0000269|PubMed:15108119, ECO:0000269|PubMed:8956036}.		cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		ATGCGCTGTGCGTAGGGGGTC	0.692																																																	0			GRCh37	CM960070	APOA4	M	rs12721043						69	63	65					11																	116692293		2201	4295	6496	SO:0001583	missense	0				CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"Apolipoproteins"	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.481G>A	11.37:g.116692293C>T	ENSP00000350425:p.Ala161Thr		A8MSL6|Q14CW8|Q6Q787	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.A161T	ENST00000357780.3	37	c.481	CCDS31681.1	11	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574582	0.13623	.	.	ENSG00000110244	ENST00000357780	T	0.75821	-0.97	5.02	-0.411	0.12370	Apolipoprotein/apolipophorin (1);	0.885835	0.09778	N	0.757032	T	0.60431	0.2268	L	0.58354	1.805	0.09310	N	1	P	0.43431	0.807	B	0.31495	0.131	T	0.49523	-0.8931	10	0.35671	T	0.21	-8.7513	5.5518	0.17095	0.1266:0.5848:0.0:0.2887	.	161	P06727	APOA4_HUMAN	T	161	ENSP00000350425:A161T	ENSP00000350425:A161T	A	-	1	0	APOA4	116197503	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	0.071000	0.14594	-0.052000	0.13311	-0.355000	0.07637	GCA	APOA4	-	pfam_ApoA1_A4_E	ENSG00000110244		0.692	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA4	HGNC	protein_coding	OTTHUMT00000106279.2		0	15	0	C	NM_000482		116692293	-1			no_errors	ENST00000357780	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.001	T	T	116692293	C	T	116692293	3	4	86	1	0	0	0	0	1	0	0	0	783	768	27	1	713	1	APOA4	11	116692293	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	8548765	116692293	18314223	158	23034											
TEAD4	7004	genome.wustl.edu	37	chr12	3104001	3104001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcccctgaggggagcacCgcctctgggggcagtcaggc	6	5	15	15	1	2	1	1	1	1	0	3	2	3	2	5	5	1	2	5	5	0	0	rs149191988		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:3104001C>T	ENST00000359864.2	+	3	259	c.69C>T	c.(67-69)acC>acT	p.T23T	TEAD4_ENST00000358409.2_Silent_p.T23T|TEAD4_ENST00000397122.2_Intron	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	23					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGGGGAGCACCGCCTCTGGGG	0.652																																																	0								C	,,	0,4406		0,0,2203	73	78	76		69,69,	3.5	0.9	12	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	TEAD4	NM_003213.3,NM_201441.2,NM_201443.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	23/435,23/392,	3104001	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.69C>T	12.37:g.3104001C>T			H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Silent	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.T23	ENST00000359864.2	37	c.69	CCDS31729.1	12																																																																																			TEAD4	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000197905		0.652	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	HGNC	protein_coding	OTTHUMT00000398475.1	-	0	63	0	C	NM_003213		3104001	1	tier1	rs149191988	no_errors	ENST00000359864	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.993	T	T	3104001	C	T	3104001	2	4	86	1	0	0	0	0	0	0	0	1	15788	639	23	1		1	TEAD4	12	3104001	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09		3104001	130747894	159	23035											
AKAP3	10566	genome.wustl.edu	37	chr12	4736244	4736244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcagggctctggtcacgCttgaaaatggtctcactaag	9	11	12	9	1	4	1	3	1	2	0	5	1	4	1	0	4	0	3	0	4	3	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:4736244C>T	ENST00000545990.2	-	5	2348	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Silent_p.K608K	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	608					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.K608N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCTGGTCACGCTTGAAAATGG	0.478																																																	2	Substitution - Missense(2)	lung(2)											74	72	73					12																	4736244		2203	4300	6503	SO:0001819	synonymous_variant	0			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"A-kinase anchor proteins"	373	protein-coding gene	gene with protein product	"Fibrous Sheath Protein of 95 kDa", "cancer/testis antigen 82"	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1824G>A	12.37:g.4736244C>T			O75945|Q86X01|Q9UM61	Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.K608	ENST00000545990.2	37	c.1824	CCDS8531.1	12																																																																																			AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000111254		0.478	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2		0	40	0	C	NM_006422		4736244	-1			no_errors	ENST00000228850	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.762	T	T	4736244	C	T	4736244	2	4	86	1	0	0	0	0	0	0	0	1	452	796	28	3		3	AKAP3	12	4736244	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1632243	4736244	129115651	160	23036											
PDZRN4	29951	genome.wustl.edu	37	chr12	41585273	41585273	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctaggatggagagcataAgccattcactattgtgttag	11	14	10	6	0	2	1	1	0	1	1	2	3	2	2	1	2	2	2	1	2	4	7	rs542974500		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:41585273A>C	ENST00000402685.2	+	2	670	c.662A>C	c.(661-663)aAg>aCg	p.K221T		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	221							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGAGAGCATAAGCCATTCACT	0.299																																																	0													103	95	98					12																	41585273		1568	3578	5146	SO:0001583	missense	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"RING-type (C3HC4) zinc fingers"	30552	protein-coding gene	gene with protein product	"similar to semaF cytoplasmic domain associated protein 3"	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.662A>C	12.37:g.41585273A>C	ENSP00000384197:p.Lys221Thr		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.K221T	ENST00000402685.2	37	c.662	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	A	11.26	1.586112	0.28268	.	.	ENSG00000165966	ENST00000402685	T	0.52057	0.68	4.48	3.28	0.37604	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.34424	0.0897	L	0.46157	1.445	0.80722	D	1	P	0.38195	0.622	B	0.34346	0.18	T	0.05920	-1.0856	9	0.14656	T	0.56	.	9.3988	0.38420	0.8407:0.0:0.0:0.1593	.	221	Q6ZMN7	PZRN4_HUMAN	T	221	ENSP00000384197:K221T	ENSP00000384197:K221T	K	+	2	0	PDZRN4	39871540	0.996000	0.38824	0.622000	0.29159	0.059000	0.15707	5.712000	0.68407	0.771000	0.33359	0.460000	0.39030	AAG	PDZRN4	-	superfamily_PDZ	ENSG00000165966		0.299	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	-	0	31	0	A	NM_013377		41585273	1	tier1	-	no_errors	ENST00000402685	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.969	C	C	41585273	A	C	41585273	3	2	86	1	0	0	0	0	1	0	0	0	11749	72	3	4	668	4	PDZRN4	12	41585273	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	36849029	41585273	92266622	161	23037											
NELL2	4753	genome.wustl.edu	37	chr12	44913815	44913815	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagagagtacactcagtGccatgtttgatccaagagga	12	9	12	8	0	1	3	1	1	0	2	2	5	2	4	2	2	2	3	2	2	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:44913815G>T	ENST00000429094.2	-	19	2877	c.2373C>A	c.(2371-2373)ggC>ggA	p.G791G	NELL2_ENST00000551601.1_Silent_p.G743G|NELL2_ENST00000549027.1_Silent_p.G790G|NELL2_ENST00000395487.2_Silent_p.G790G|NELL2_ENST00000437801.2_Silent_p.G841G|NELL2_ENST00000333837.4_Silent_p.G814G|NELL2_ENST00000452445.2_Silent_p.G791G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	791						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACACTCAGTGCCATGTTTGA	0.483																																																	0													105	92	96					12																	44913815		2203	4300	6503	SO:0001819	synonymous_variant	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2373C>A	12.37:g.44913815G>T			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.G841	ENST00000429094.2	37	c.2523	CCDS8746.1	12																																																																																			NELL2	-	NULL	ENSG00000184613		0.483	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1	-	0	44	0	G	NM_006159		44913815	-1	tier1	-	no_errors	ENST00000437801	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T	T	44913815	G	T	44913815	2	4	86	1	0	0	0	0	0	0	0	1	10373	1306	46	3		3	NELL2	12	44913815	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	3328542	44913815	88938080	162	23038											
RPAP3	79657	genome.wustl.edu	37	chr12	48090064	48090064	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagaaagtccttactttttCagtctaaaatatgctgacgc	13	13	6	9	1	2	2	1	1	1	1	3	2	3	2	1	0	2	1	1	0	5	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:48090064C>G	ENST00000005386.3	-	5	655	c.540G>C	c.(538-540)ctG>ctC	p.L180L	RPAP3_ENST00000380650.4_Silent_p.L180L|RPAP3_ENST00000432584.3_Silent_p.L21L	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	180										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					CTTACTTTTTCAGTCTAAAAT	0.378																																																	0													152	134	140					12																	48090064		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.540G>C	12.37:g.48090064C>G			B4DRW9|Q6PHR5	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L180	ENST00000005386.3	37	c.540	CCDS8753.1	12																																																																																			RPAP3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000005175		0.378	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	HGNC	protein_coding	OTTHUMT00000405340.1		0	59	0	C	NM_024604		48090064	-1			no_errors	ENST00000005386	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	G	G	48090064	C	G	48090064	2	3	86	1	0	0	0	0	0	0	0	1	13588	813	29	5		5	RPAP3	12	48090064	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	3176249	48090064	85761831	163	23039											
IKZF4	64375	genome.wustl.edu	37	chr12	56428846	56428846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtcctgcctacgccaaaGaggaccccaagccacaggag	13	3	10	15	1	0	1	0	0	0	1	1	3	1	3	6	2	3	0	6	2	3	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:56428846G>A	ENST00000262032.5	+	12	1856	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Missense_Mutation_p.E395K|IKZF4_ENST00000547791.1_Missense_Mutation_p.E452K|IKZF4_ENST00000547167.1_Missense_Mutation_p.E497K			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	497					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTACGCCAAAGAGGACCCCAA	0.662																																																	0													42	45	44					12																	56428846		1891	4109	6000	SO:0001583	missense	0			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1489G>A	12.37:g.56428846G>A	ENSP00000262032:p.Glu497Lys		Q96JP3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E497K	ENST00000262032.5	37	c.1489	CCDS44917.1	12	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509217	0.64522	.	.	ENSG00000123411	ENST00000262032;ENST00000431367;ENST00000547167;ENST00000547791	T;T;T;T	0.08008	3.16;3.15;3.16;3.14	4.08	4.08	0.47627	.	0.000000	0.47852	D	0.000216	T	0.15262	0.0368	L	0.41356	1.27	0.44188	D	0.997007	D;P;P;P	0.56287	0.975;0.815;0.885;0.88	P;B;B;P	0.53861	0.736;0.182;0.389;0.636	T	0.01326	-1.1384	10	0.59425	D	0.04	-19.8609	15.5539	0.76177	0.0:0.0:1.0:0.0	.	395;452;456;497	G5E9S4;F8VPL6;Q9H2S9-2;Q9H2S9	.;.;.;IKZF4_HUMAN	K	497;395;497;452	ENSP00000262032:E497K;ENSP00000412101:E395K;ENSP00000448419:E497K;ENSP00000450020:E452K	ENSP00000262032:E497K	E	+	1	0	IKZF4	54715113	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.374000	0.79633	2.268000	0.75426	0.313000	0.20887	GAG	IKZF4	-	NULL	ENSG00000123411		0.662	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF4	HGNC	protein_coding	OTTHUMT00000407590.1	-	0	43	0	G	NM_022465		56428846	1	tier1	-	no_errors	ENST00000262032	ensembl	human	known	74_37	missense	20.69	23	6	SNP	1.000	A	A	56428846	G	A	56428846	3	1	86	1	0	0	0	0	1	0	0	0	7644	943	33	3	1519	3	IKZF4	12	56428846	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	8338782	56428846	77423049	164	23040											
ARHGAP9	64333	genome.wustl.edu	37	chr12	57869649	57869649	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagtccgcagcgcgcggtgCcaggctcgcagctctgtctc	5	7	13	16	5	2	0	0	0	2	0	5	0	3	0	2	2	3	4	2	2	0	0	rs370652888		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:57869649C>T	ENST00000356411.2	-	10	1416	c.1278G>A	c.(1276-1278)tgG>tgA	p.W426*	ARHGAP9_ENST00000550288.1_Nonsense_Mutation_p.W505*|ARHGAP9_ENST00000424809.2_Nonsense_Mutation_p.W426*|ARHGAP9_ENST00000430041.2_Nonsense_Mutation_p.W242*|ARHGAP9_ENST00000393797.2_Nonsense_Mutation_p.W497*|ARHGAP9_ENST00000393791.3_Nonsense_Mutation_p.W426*|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	426	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GCGCGCGGTGCCAGGCTCGCA	0.677																																																	0								C	stop/TRP,stop/TRP,stop/TRP	0,4406		0,0,2203	27	29	28		726,1278,1278	4.2	1	12		28	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained,stop-gained	ARHGAP9	NM_001080156.1,NM_001080157.1,NM_032496.2	,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,	242/548,426/641,426/732	57869649	1,13003	2203	4299	6502	SO:0001587	stop_gained	0			AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1278G>A	12.37:g.57869649C>T	ENSP00000348782:p.Trp426*		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom	p.W426*	ENST00000356411.2	37	c.1278		12	.	.	.	.	.	.	.	.	.	.	C	39	7.750263	0.98468	0.0	1.16E-4	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0569	0.64774	0.0:1.0:0.0:0.0	.	.	.	.	X	426;426;96;426;497;475;242;242	.	ENSP00000344852:W475X	W	-	3	0	ARHGAP9	56155916	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.896000	0.56266	2.378000	0.81104	0.561000	0.74099	TGG	ARHGAP9	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000123329		0.677	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP9	HGNC	protein_coding			0	87	0	C	NM_032496		57869649	-1			no_errors	ENST00000356411	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	57869649	C	T	57869649	4	4	86	1	0	0	0	0	0	1	0	0	889	740	26	3	953	3	ARHGAP9	12	57869649	Nonsense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1440803	57869649	75982246	165	23041											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85517961	85517961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggatgtaactatcaccaAgaaagatgaatcagaagccc	17	6	10	8	0	2	4	2	1	0	3	2	5	2	5	2	2	2	1	2	2	6	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:85517961A>G	ENST00000393217.2	+	17	3732	c.3671A>G	c.(3670-3672)aAg>aGg	p.K1224R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1224								p.K1224T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTATCACCAAGAAAGATGAA	0.408																																																	2	Substitution - Missense(2)	large_intestine(2)											98	102	101					12																	85517961		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3671A>G	12.37:g.85517961A>G	ENSP00000376910:p.Lys1224Arg		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.K1224R	ENST00000393217.2	37	c.3671	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	5.532	0.283028	0.10458	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54279	0.58	5.52	3.08	0.35506	.	0.662303	0.14387	N	0.322759	T	0.35508	0.0934	N	0.24115	0.695	0.09310	N	1	B;B	0.15473	0.013;0.013	B;B	0.12156	0.007;0.007	T	0.21211	-1.0252	10	0.38643	T	0.18	.	6.9784	0.24690	0.7748:0.1493:0.0759:0.0	.	1224;1199	Q96JM4;C9JI57	LRIQ1_HUMAN;.	R	1224;1199;1224	ENSP00000376910:K1224R	ENSP00000256007:K1224R	K	+	2	0	LRRIQ1	84042092	0.014000	0.17966	0.006000	0.13384	0.028000	0.11728	2.664000	0.46783	0.348000	0.23949	0.477000	0.44152	AAG	LRRIQ1	-	NULL	ENSG00000133640		0.408	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	39	0	A	NM_032165		85517961	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.012	G	G	85517961	A	G	85517961	3	3	86	1	0	0	0	0	1	0	0	0	9064	72	3	4	3733	4	LRRIQ1	12	85517961	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	27648312	85517961	48333934	166	23042											
ANKS1B	56899	genome.wustl.edu	37	chr12	99640518	99640518	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcacattgttctcttttCccatagagatgaaatggatt	10	18	6	7	0	2	2	1	1	1	1	4	4	3	3	1	1	0	1	1	1	2	8			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:99640518C>A	ENST00000547776.2	-	13	1880	c.1881G>T	c.(1879-1881)ggG>ggT	p.G627G	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Silent_p.G207G|ANKS1B_ENST00000329257.7_Silent_p.G627G	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	627						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTTCTCTTTTCCCATAGAGAT	0.438																																																	0													114	108	110					12																	99640518		1865	4101	5966	SO:0001819	synonymous_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1881G>T	12.37:g.99640518C>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G627	ENST00000547776.2	37	c.1881	CCDS55872.1	12																																																																																			ANKS1B	-	NULL	ENSG00000185046		0.438	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	-	0	45	0	C	NM_020140		99640518	-1	tier1	-	no_errors	ENST00000329257	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.997	A	A	99640518	C	A	99640518	2	1	86	1	0	0	0	0	0	0	0	1	689	842	30	3		3	ANKS1B	12	99640518	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	14122557	99640518	34211377	167	23043											
HSP90B1	7184	genome.wustl.edu	37	chr12	104335268	104335268	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattttatttgtacccacAtctgctccacgtggtctgtt	7	17	6	11	1	3	0	1	0	2	0	4	0	4	0	2	1	2	3	2	1	3	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:104335268A>G	ENST00000299767.5	+	9	1355	c.1173A>G	c.(1171-1173)acA>acG	p.T391T		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	391					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTGTACCCACATCTGCTCCAC	0.373																																																	0													117	119	118					12																	104335268		2203	4300	6503	SO:0001819	synonymous_variant	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"Heat shock proteins / HSPC"	12028	protein-coding gene	gene with protein product		191175	"tumor rejection antigen (gp96) 1"	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1173A>G	12.37:g.104335268A>G			Q96A97	Silent	SNP	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.T391	ENST00000299767.5	37	c.1173	CCDS9094.1	12																																																																																			HSP90B1	-	pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000166598		0.373	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1	-	0	82	0	A	NM_003299		104335268	1	tier1	-	no_errors	ENST00000299767	ensembl	human	known	74_37	silent	22.06	53	15	SNP	0.063	G	G	104335268	A	G	104335268	2	3	86	1	0	0	0	0	0	0	0	1	7430	204	8	4		4	HSP90B1	12	104335268	Silent	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	4694750	104335268	29516627	168	23044											
KIAA1033	23325	genome.wustl.edu	37	chr12	105558045	105558045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgaaaaactcttacaaaCcatgaatctcactcagaagc	18	8	5	10	0	3	4	2	2	2	2	4	4	3	4	1	0	4	0	1	0	6	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:105558045C>T	ENST00000332180.5	+	31	3401	c.3314C>T	c.(3313-3315)aCc>aTc	p.T1105I	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CTCTTACAAACCATGAATCTC	0.418																																																	0													88	86	86					12																	105558045		1890	4117	6007	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3314C>T	12.37:g.105558045C>T	ENSP00000328062:p.Thr1105Ile			Missense_Mutation	SNP	NULL	p.T1105I	ENST00000332180.5	37	c.3314	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968368	0.92855	.	.	ENSG00000136051	ENST00000332180	T	0.78816	-1.21	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.84326	2.69	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65987	0.94;0.94	D	0.89606	0.3838	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	1106;1105	B7ZKT9;Q2M389	.;WASH7_HUMAN	I	1105	ENSP00000328062:T1105I	ENSP00000328062:T1105I	T	+	2	0	KIAA1033	104082175	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	ACC	KIAA1033	-	NULL	ENSG00000136051		0.418	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	-	0	33	0	C	NM_015275		105558045	1	tier1	-	no_errors	ENST00000332180	ensembl	human	known	74_37	missense	25.00	26	9	SNP	1.000	T	T	105558045	C	T	105558045	3	4	86	1	0	0	0	0	1	0	0	0	8233	507	18	3	3436	3	KIAA1033	12	105558045	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1222777	105558045	28293850	169	23045											
SH2B3	10019	genome.wustl.edu	37	chr12	111885533	111885533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccctcggtcgtggacaTgctccaccacttccagcgct	5	11	8	17	3	0	0	0	0	0	0	5	1	3	1	4	2	2	2	4	2	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:111885533T>A	ENST00000341259.2	+	7	1667	c.1310T>A	c.(1309-1311)aTg>aAg	p.M437K	SH2B3_ENST00000538307.1_Missense_Mutation_p.M235K	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	437	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GTCGTGGACATGCTCCACCAC	0.662																																																	0													64	55	58					12																	111885533		2203	4300	6503	SO:0001583	missense	0			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1310T>A	12.37:g.111885533T>A	ENSP00000345492:p.Met437Lys		B9EGG5|O95184	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_SH2,pfam_Pleckstrin_homology,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.M437K	ENST00000341259.2	37	c.1310	CCDS9153.1	12	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541119	0.85917	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.64618	-0.11;-0.11	5.05	5.05	0.67936	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.93594	3.435	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	0.991;0.987;1.0	D	0.87158	0.2213	10	0.87932	D	0	-20.4872	12.289	0.54807	0.0:0.0:0.1411:0.8589	.	235;301;437	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	K	437;247;235	ENSP00000345492:M437K;ENSP00000440597:M235K	ENSP00000345492:M437K	M	+	2	0	SH2B3	110369916	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.633000	0.83260	2.040000	0.60383	0.379000	0.24179	ATG	SH2B3	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000111252		0.662	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2B3	HGNC	protein_coding	OTTHUMT00000404779.1	-	0	41	0	T	NM_005475		111885533	1	tier1	-	no_errors	ENST00000341259	ensembl	human	putative	74_37	missense	31.25	22	10	SNP	1.000	A	A	111885533	T	A	111885533	3	1	86	1	0	0	0	0	1	0	0	0	14274	1464	51	5	1332	5	SH2B3	12	111885533	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	6327488	111885533	21966362	170	23046											
RNF10	9921	genome.wustl.edu	37	chr12	120995414	120995414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgatgcagctgatgaagaGggagaaaggggtgttggtgg	11	8	19	3	1	0	4	0	2	0	2	0	6	0	4	0	5	3	3	0	5	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:120995414G>A	ENST00000325954.4	+	6	1357	c.896G>A	c.(895-897)aGg>aAg	p.R299K	RNF10_ENST00000413266.2_Missense_Mutation_p.R299K	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	299					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R299M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGATGAAGAGGGAGAAAGGG	0.443																																																	1	Substitution - Missense(1)	lung(1)											307	251	270					12																	120995414		2203	4300	6503	SO:0001583	missense	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.896G>A	12.37:g.120995414G>A	ENSP00000322242:p.Arg299Lys		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R299K	ENST00000325954.4	37	c.896	CCDS9201.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.401201|5.401201	0.96030|0.96030	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000542207;ENST00000541955|ENST00000325954;ENST00000458409;ENST00000413266	.|D;D	.|0.96300	.|-3.61;-3.97	6.04|6.04	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97920|0.97920	0.9316|0.9316	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.80764	.|0.994;0.984	D|D	0.98290|0.98290	1.0513|1.0513	5|10	.|0.87932	.|D	.|0	.|.	16.801|16.801	0.85614|0.85614	0.0:0.0:0.8708:0.1292|0.0:0.0:0.8708:0.1292	.|.	.|299;299	.|Q8N5U6-2;Q8N5U6	.|.;RNF10_HUMAN	R|K	97;92|299	.|ENSP00000322242:R299K;ENSP00000415682:R299K	.|ENSP00000322242:R299K	G|R	+|+	1|2	0|0	RNF10|RNF10	119479797|119479797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.001000|8.001000	0.88508|0.88508	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GGG|AGG	RNF10	-	NULL	ENSG00000022840		0.443	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4	-	0	46	0	G			120995414	1	tier1	-	no_errors	ENST00000413266	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	A	A	120995414	G	A	120995414	3	1	86	1	0	0	0	0	1	0	0	0	13467	1000	35	3	918	3	RNF10	12	120995414	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	9109881	120995414	12856481	171	23047											
ACADS	35	genome.wustl.edu	37	chr12	121176660	121176660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccctggccctggagagtgCccggctgctgacctggcgcg	3	6	17	15	3	0	2	0	1	0	1	0	3	0	2	4	5	2	2	4	5	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:121176660C>T	ENST00000242592.4	+	8	1122	c.971C>T	c.(970-972)gCc>gTc	p.A324V	ACADS_ENST00000411593.2_Missense_Mutation_p.A320V|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	324					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CTGGAGAGTGCCCGGCTGCTG	0.632																																																	0													51	58	56					12																	121176660		2203	4300	6503	SO:0001583	missense	0			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.971C>T	12.37:g.121176660C>T	ENSP00000242592:p.Ala324Val		P78331	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A324V	ENST00000242592.4	37	c.971	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.396406	0.96009	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.97161	-4.27;-4.27	4.63	4.63	0.57726	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.72338	0.977;0.941;0.941	D	0.99843	1.1063	10	0.87932	D	0	.	17.5068	0.87748	0.0:1.0:0.0:0.0	.	320;324;324	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	V	324;320	ENSP00000242592:A324V;ENSP00000401045:A320V	ENSP00000242592:A324V	A	+	2	0	ACADS	119661043	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.506000	0.81665	2.125000	0.65367	0.561000	0.74099	GCC	ACADS	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000122971		0.632	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1		0	77	0	C	NM_000017		121176660	1			no_errors	ENST00000242592	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	121176660	C	T	121176660	3	4	86	1	0	0	0	0	1	0	0	0	114	739	26	3	1001	3	ACADS	12	121176660	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	181246	121176660	12675235	172	23048											
GOLGA3	2802	genome.wustl.edu	37	chr12	133373178	133373178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgccatcctctgcagccGctccctctcaccttcaaact	6	10	5	20	2	3	0	2	0	2	0	7	0	6	0	6	0	3	2	6	0	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr12:133373178G>A	ENST00000450791.2	-	9	2230	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	GOLGA3_ENST00000537452.1_Missense_Mutation_p.R683W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R683W|GOLGA3_ENST00000545875.1_Missense_Mutation_p.R683W|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R683W			Q08378	GOGA3_HUMAN	golgin A3	683	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTCTGCAGCCGCTCCCTCTCA	0.612																																																	0													188	181	183					12																	133373178		2203	4300	6503	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"SY2/SY10 protein", "Golgi complex-associated protein of 170 kD"	602581	"golgi autoantigen, golgin subfamily a, 3"			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2047C>T	12.37:g.133373178G>A	ENSP00000410378:p.Arg683Trp		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R683W	ENST00000450791.2	37	c.2047	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792580	0.90453	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.34072	1.81;1.81;1.8;1.38;1.38	5.48	3.56	0.40772	.	0.381500	0.33092	N	0.005295	T	0.43344	0.1243	L	0.29908	0.895	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.998	P;P;P	0.59424	0.719;0.613;0.857	T	0.38757	-0.9646	10	0.72032	D	0.01	.	14.1799	0.65566	0.0:0.0:0.7263:0.2737	.	683;683;683	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	W	683	ENSP00000204726:R683W;ENSP00000410378:R683W;ENSP00000409303:R683W;ENSP00000442143:R683W;ENSP00000442603:R683W	ENSP00000204726:R683W	R	-	1	2	GOLGA3	131883251	1.000000	0.71417	0.960000	0.40013	0.883000	0.51084	4.789000	0.62446	0.600000	0.29862	0.655000	0.94253	CGG	GOLGA3	-	NULL	ENSG00000090615		0.612	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0	65	0	G	NM_005895		133373178	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.996	A	A	133373178	G	A	133373178	3	1	86	1	0	0	0	0	1	0	0	0	6580	1086	38	1	2647	1	GOLGA3	12	133373178	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	12196518	133373178	478717	173	23049											
XPO4	64328	genome.wustl.edu	37	chr13	21417073	21417073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcaagacttgattggCgagtgcaaggtaacgctgaa	12	8	12	9	2	1	3	1	2	0	1	1	4	1	3	1	2	3	4	1	2	4	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr13:21417073C>T	ENST00000255305.6	-	6	759	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	XPO4_ENST00000400602.2_Missense_Mutation_p.A230T			Q9C0E2	XPO4_HUMAN	exportin 4	230					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ACTTGATTGGCGAGTGCAAGG	0.388																																																	0													66	66	66					13																	21417073		1918	4147	6065	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.688G>A	13.37:g.21417073C>T	ENSP00000255305:p.Ala230Thr		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A230T	ENST00000255305.6	37	c.688	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038437	0.93630	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.24723	1.89;1.84	6.07	6.07	0.98685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.52573	1.65	0.80722	D	1	D	0.58970	0.984	B	0.43478	0.421	T	0.01587	-1.1318	10	0.20046	T	0.44	-15.1927	20.6593	0.99626	0.0:1.0:0.0:0.0	.	230	Q9C0E2	XPO4_HUMAN	T	230;100;230	ENSP00000383444:A230T;ENSP00000255305:A230T	ENSP00000255305:A230T	A	-	1	0	XPO4	20315073	1.000000	0.71417	0.982000	0.44146	0.989000	0.77384	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GCC	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.388	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	-	0	139	0	C	NM_022459		21417073	-1	tier1	-	no_errors	ENST00000255305	ensembl	human	known	74_37	missense	24.14	65	21	SNP	1.000	T	T	21417073	C	T	21417073	3	4	86	1	0	0	0	0	1	0	0	0	17495	768	27	1	2839	1	XPO4	13	21417073	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09		21417073	93752805	174	23050											
NBEA	26960	genome.wustl.edu	37	chr13	35730247	35730248	+	Frame_Shift_Ins	INS	-	-	A																															aaagtggtggcaactttgttINSaaaaaactctacaccaagtg																										TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr13:35730247_35730248insA	ENST00000400445.3	+	20	3089_3090	c.2555_2556insA	c.(2554-2559)ttaaaafs	p.LK852fs	NBEA_ENST00000540320.1_Frame_Shift_Ins_p.LK852fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.LK852fs|NBEA_ENST00000310336.4_Frame_Shift_Ins_p.LK852fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	852					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAACTTTGTTAAAAAACTCTA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2561dupA	13.37:g.35730253_35730253dupA	ENSP00000383295:p.Leu852fs		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Ins	INS	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.N854fs	ENST00000400445.3	37	c.2555_2556	CCDS45026.1	13																																																																																			NBEA	-	superfamily_ARM-type_fold	ENSG00000172915		0.322	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding			0	51	0	0	NM_015678		35730248	1			no_errors	ENST00000310336	ensembl	human	known	74_37	frame_shift_ins	8.24	78	7	INS	1.000:1.000	A	A	35730248	-	A	35730247	7	5	86	1	0	1	1	0	0	0	0	0	10225	1764	61	0	2633	0	NBEA	13	35730247	Frame_Shift_Ins	INS	-	TCGA-L5-A8NL-01A-12D-A37C-09	14313174	35730247	79439631	175	23051											
POSTN	10631	genome.wustl.edu	37	chr13	38151912	38151912	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagacagtcacggggatttcTttgaaggtgctaccacgaac	11	10	11	9	2	2	2	1	1	1	1	2	4	2	3	1	3	3	1	1	3	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr13:38151912T>C	ENST00000379747.4	-	16	2103	c.1986A>G	c.(1984-1986)aaA>aaG	p.K662K	POSTN_ENST00000379749.4_Silent_p.K662K|POSTN_ENST00000379742.4_Silent_p.K662K|POSTN_ENST00000541179.1_Silent_p.K662K|POSTN_ENST00000541481.1_Silent_p.K662K|POSTN_ENST00000379743.4_Silent_p.K662K	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	662					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CGGGGATTTCTTTGAAGGTGC	0.328																																																	0													53	60	57					13																	38151912		2203	4297	6500	SO:0001819	synonymous_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1986A>G	13.37:g.38151912T>C			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.K662	ENST00000379747.4	37	c.1986	CCDS9364.1	13																																																																																			POSTN	-	pirsf_TGFb-ind_bIGH3/osteoblast_fac2	ENSG00000133110		0.328	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	135	0	T	NM_006475		38151912	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	silent	14.46	71	12	SNP	1.000	C	C	38151912	T	C	38151912	2	2	86	1	0	0	0	0	0	0	0	1	12298	1606	56	4		4	POSTN	13	38151912	Silent	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	2421665	38151912	77017966	176	23052											
ZC3H13	23091	genome.wustl.edu	37	chr13	46559440	46559440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaccttacccttttcaGgtaactcaggaaccctcccc	12	9	4	16	0	2	0	2	0	0	0	3	1	3	1	5	2	4	1	5	2	5	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr13:46559440G>T	ENST00000242848.4	-	10	2060	c.1712C>A	c.(1711-1713)cCt>cAt	p.P571H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P571H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	571	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ACCCTTTTCAGGTAACTCAGG	0.358																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													64	65	65					13																	46559440		2203	4300	6503	SO:0001583	missense	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1712C>A	13.37:g.46559440G>T	ENSP00000242848:p.Pro571His		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.P571H	ENST00000242848.4	37	c.1712		13	.	.	.	.	.	.	.	.	.	.	G	12.48	1.952071	0.34471	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.31510	2.49;1.49	5.73	5.73	0.89815	.	0.097389	0.45867	D	0.000331	T	0.42899	0.1223	L	0.27053	0.805	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.61592	0.781;0.891	T	0.17653	-1.0362	10	0.49607	T	0.09	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	571;571	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	H	571;571;387	ENSP00000242848:P571H;ENSP00000282007:P571H	ENSP00000242848:P571H	P	-	2	0	ZC3H13	45457441	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.592000	0.67543	2.861000	0.98227	0.655000	0.94253	CCT	ZC3H13	-	NULL	ENSG00000123200		0.358	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	-	0	63	0	G	NM_015070		46559440	-1	tier1	-	no_errors	ENST00000242848	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T	T	46559440	G	T	46559440	3	4	86	1	0	0	0	0	1	0	0	0	17613	1000	35	3	3014	3	ZC3H13	13	46559440	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	8407528	46559440	68610438	177	23053											
RBM26	64062	genome.wustl.edu	37	chr13	79943032	79943032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtacagggtagtggccaGatgaaatactaggtaccgaa	14	8	13	6	1	0	2	0	1	0	1	0	3	0	2	2	4	3	3	2	4	8	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr13:79943032G>T	ENST00000438737.2	-	6	1168	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	RBM26_ENST00000461008.1_5'Flank|RBM26_ENST00000438724.1_Missense_Mutation_p.S243Y|RBM26_ENST00000267229.7_Missense_Mutation_p.S243Y			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	243					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTAGTGGCCAGATGAAATACT	0.393																																																	0													179	170	173					13																	79943032		2203	4300	6503	SO:0001583	missense	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.728C>A	13.37:g.79943032G>T	ENSP00000387531:p.Ser243Tyr		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.S243Y	ENST00000438737.2	37	c.728		13	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989048	0.93106	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T	0.51574	0.7;0.7	5.79	5.79	0.91817	.	0.168962	0.53938	D	0.000049	T	0.59487	0.2197	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.64830	0.994;0.991;0.994	D;P;P	0.68192	0.956;0.687;0.905	T	0.52902	-0.8513	9	.	.	.	-13.208	20.0367	0.97561	0.0:0.0:1.0:0.0	.	243;243;243	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	Y	243;244;243;243	ENSP00000267229:S243Y;ENSP00000390222:S243Y	.	S	-	2	0	RBM26	78841033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.294000	0.78760	2.727000	0.93392	0.591000	0.81541	TCT	RBM26	-	NULL	ENSG00000139746		0.393	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	-	0	94	0	G	NM_022118		79943032	-1	tier1	-	no_errors	ENST00000438724	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	79943032	G	T	79943032	3	4	86	1	0	0	0	0	1	0	0	0	13171	942	33	3	2278	3	RBM26	13	79943032	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	33383592	79943032	35226846	178	23054											
COL4A2	1284	genome.wustl.edu	37	chr13	111160399	111160399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctactggctctctaccactgCgccgctgcccatgatgcccg	5	9	9	18	3	1	1	0	1	1	0	2	1	1	1	4	1	5	2	4	1	2	2	rs201300563		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr13:111160399C>T	ENST00000360467.5	+	47	5018	c.4712C>T	c.(4711-4713)gCg>gTg	p.A1571V	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1571	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.A1571G(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCTACCACTGCGCCGCTGCCC	0.622																																																	1	Substitution - Missense(1)	endometrium(1)						C	VAL/ALA	0,4366		0,0,2183	76	84	81		4712	4.9	0.9	13		81	2,8568		0,2,4283	yes	missense	COL4A2	NM_001846.2	64	0,2,6466	TT,TC,CC		0.0233,0.0,0.0155	probably-damaging	1571/1713	111160399	2,12934	2183	4285	6468	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"Collagens"	2203	protein-coding gene	gene with protein product	"canstatin", "collagen type IV alpha 2"	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.4712C>T	13.37:g.111160399C>T	ENSP00000353654:p.Ala1571Val		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.A1571V	ENST00000360467.5	37	c.4712	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585217	0.86748	0.0	2.33E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.82893	-1.66	4.94	4.94	0.65067	C-type lectin fold (1);	0.000000	0.56097	D	0.000038	D	0.91429	0.7295	M	0.87456	2.885	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.89622	0.3849	10	0.13853	T	0.58	.	18.1809	0.89777	0.0:1.0:0.0:0.0	.	1571	P08572	CO4A2_HUMAN	V	1571	ENSP00000353654:A1571V	ENSP00000257309:A1571V	A	+	2	0	COL4A2	109958400	1.000000	0.71417	0.867000	0.34043	0.739000	0.42172	5.579000	0.67457	2.256000	0.74724	0.655000	0.94253	GCG	COL4A2	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000134871		0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2		0	40	0	C	NM_001846		111160399	1			no_errors	ENST00000360467	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.998	T	T	111160399	C	T	111160399	3	4	86	1	0	0	0	0	1	0	0	0	3697	768	27	1	4894	1	COL4A2	13	111160399	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	31217367	111160399	4009479	179	23055											
ZNF219	51222	genome.wustl.edu	37	chr14	21561155	21561155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtgcgcaggtgcgagcGcagcagagcccgctgcgccg	5	5	18	13	6	0	1	0	0	0	1	0	2	0	1	2	1	6	4	2	1	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr14:21561155G>T	ENST00000360947.3	-	3	712	c.301C>A	c.(301-303)Cgc>Agc	p.R101S	ZNF219_ENST00000421093.2_Missense_Mutation_p.R101S|ZNF219_ENST00000556101.1_5'Flank|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Missense_Mutation_p.R101S	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	101					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGGTGCGAGCGCAGCAGAGCC	0.687											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11	13	12					14																	21561155		2190	4265	6455	SO:0001583	missense	0			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.301C>A	14.37:g.21561155G>T	ENSP00000354206:p.Arg101Ser	749	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt	p.R101S	ENST00000360947.3	37	c.301	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764015	0.69878	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093;ENST00000555270;ENST00000554478;ENST00000556174;ENST00000554923;ENST00000553296	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.084306	0.47852	D	0.000211	T	0.41236	0.1150	N	0.20357	0.565	0.34063	D	0.657485	D	0.57571	0.98	P	0.56216	0.794	T	0.36939	-0.9727	10	0.10636	T	0.68	-23.2708	10.4713	0.44638	0.0:0.0:0.8064:0.1936	.	101	Q9P2Y4	ZN219_HUMAN	S	101;101;101;101;147;101;138;101	ENSP00000354206:R101S;ENSP00000388558:R101S;ENSP00000392401:R101S;ENSP00000450803:R101S;ENSP00000451212:R147S;ENSP00000450609:R101S;ENSP00000451890:R138S;ENSP00000450900:R101S	ENSP00000354206:R101S	R	-	1	0	ZNF219	20630995	0.961000	0.32948	1.000000	0.80357	0.993000	0.82548	0.942000	0.29017	2.495000	0.84180	0.655000	0.94253	CGC	ZNF219	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000165804		0.687	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2		0	14	0	G			21561155	-1			no_errors	ENST00000360947	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	21561155	G	T	21561155	3	4	86	1	0	0	0	0	1	0	0	0	17821	1087	38	2	1879	2	ZNF219	14	21561155	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		21561155	85788385	180	23056											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72090894	72090894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcaatgtccagtgcctgCggttggccttcaacacaccc	8	9	9	15	1	2	0	2	0	0	0	3	0	3	0	4	2	4	2	4	2	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr14:72090894C>T	ENST00000555818.1	+	4	2107	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R587W|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R62W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R587W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	587					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCAGTGCCTGCGGTTGGCCTT	0.552																																																	0													162	135	144					14																	72090894		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1759C>T	14.37:g.72090894C>T	ENSP00000450832:p.Arg587Trp		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R587W	ENST00000555818.1	37	c.1759	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324272	0.81580	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.29	4.34	0.51931	.	0.094163	0.64402	D	0.000001	D	0.96528	0.8867	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.996;0.834;0.998;0.997;0.99	D	0.96226	0.9164	10	0.87932	D	0	-16.7653	11.1918	0.48690	0.3526:0.6474:0.0:0.0	.	62;587;62;587;587	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	W	587;587;587;62;88	ENSP00000370630:R587W;ENSP00000450832:R587W;ENSP00000351352:R587W;ENSP00000440682:R62W;ENSP00000452450:R88W	ENSP00000351352:R587W	R	+	1	2	SIPA1L1	71160647	1.000000	0.71417	0.999000	0.59377	0.915000	0.54546	1.517000	0.35867	2.752000	0.94435	0.655000	0.94253	CGG	SIPA1L1	-	NULL	ENSG00000197555		0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0	47	0	C	NM_015556		72090894	1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	T	T	72090894	C	T	72090894	3	4	86	1	0	0	0	0	1	0	0	0	14374	759	27	1	1769	1	SIPA1L1	14	72090894	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	50529739	72090894	35258646	181	23057											
RYR3	6263	genome.wustl.edu	37	chr15	33988632	33988632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccctgggccaaatccGctccctcctcagtgtcagga	6	8	11	16	1	2	0	2	0	0	0	5	1	5	1	5	3	1	2	5	3	1	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:33988632G>A	ENST00000389232.4	+	39	6144	c.6074G>A	c.(6073-6075)cGc>cAc	p.R2025H	RYR3_ENST00000415757.3_Missense_Mutation_p.R2025H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2025	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCCAAATCCGCTCCCTCCTC	0.577																																																	0													85	90	89					15																	33988632		2117	4241	6358	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6074G>A	15.37:g.33988632G>A	ENSP00000373884:p.Arg2025His		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R2025H	ENST00000389232.4	37	c.6074	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685615	0.88639	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.95756	-0.28;-3.8	4.84	3.9	0.45041	Intracellular calcium-release channel (1);	0.134219	0.46758	D	0.000275	D	0.97414	0.9154	M	0.78637	2.42	0.47476	D	0.999439	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98149	1.0440	10	0.87932	D	0	.	15.2883	0.73846	0.0:0.1408:0.8592:0.0	.	2025;2025	Q15413-2;Q15413	.;RYR3_HUMAN	H	2025	ENSP00000373884:R2025H;ENSP00000399610:R2025H	ENSP00000354735:R2025H	R	+	2	0	RYR3	31775924	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	9.601000	0.98297	1.354000	0.45846	0.650000	0.86243	CGC	RYR3	-	pfam_Ca-rel_channel	ENSG00000198838		0.577	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0	43	0	G			33988632	1			no_errors	ENST00000389232	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	A	A	33988632	G	A	33988632	3	1	86	1	0	0	0	0	1	0	0	0	13815	1087	38	1	6228	1	RYR3	15	33988632	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		33988632	68542760	182	23058											
ATPBD4	89978	genome.wustl.edu	37	chr15	35742931	35742931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaatgttagatgataTcatctctctgagcaaatctt	11	16	7	7	0	4	4	1	3	3	1	5	4	4	4	0	0	2	3	0	0	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:35742931T>C	ENST00000256538.4	-	5	486	c.460A>G	c.(460-462)Ata>Gta	p.I154V		NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	154					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										TTAGATGATATCATCTCTCTG	0.388																																																	0													168	146	154					15																	35742931		2201	4298	6499	SO:0001583	missense	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"diphthine--ammonia ligase"		"ATP binding domain 4", "DPH6 homolog (S. cerevisiae)"	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.460A>G	15.37:g.35742931T>C	ENSP00000256538:p.Ile154Val		B3KWG1|Q96HJ6	Missense_Mutation	SNP	pfam_DUF71_dom,tigrfam_DUF71_dom	p.I154V	ENST00000256538.4	37	c.460	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316873	0.40996	.	.	ENSG00000134146	ENST00000256538	T	0.38722	1.12	5.3	4.15	0.48705	Domain of unknown function DUF71, ATP-binding domain (2);	0.041140	0.85682	D	0.000000	T	0.32224	0.0822	L	0.35414	1.06	0.80722	D	1	B	0.22983	0.078	B	0.25614	0.062	T	0.06162	-1.0842	10	0.27082	T	0.32	-6.5225	12.2961	0.54847	0.0:0.0:0.1418:0.8582	.	154	Q7L8W6	ATBD4_HUMAN	V	154	ENSP00000256538:I154V	ENSP00000256538:I154V	I	-	1	0	ATPBD4	33530223	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	5.367000	0.66127	0.995000	0.38917	0.533000	0.62120	ATA	DPH6	-	pfam_DUF71_dom,tigrfam_DUF71_dom	ENSG00000134146		0.388	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH6	HGNC	protein_coding	OTTHUMT00000251973.1	-	0	63	0	T	NM_080650		35742931	-1	tier1	-	no_errors	ENST00000256538	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	C	C	35742931	T	C	35742931	3	2	86	1	0	0	0	0	1	0	0	0	1203	1435	50	4	363	4	ATPBD4	15	35742931	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	1754299	35742931	66788461	183	23059											
FBN1	2200	genome.wustl.edu	37	chr15	48805826	48805826	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggttgttaatacacTcaccaccagcacaggggttt	11	10	8	12	0	1	0	1	0	0	0	1	0	1	0	3	3	3	4	3	3	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:48805826T>C	ENST00000316623.5	-	13	1963	c.1508A>G	c.(1507-1509)gAg>gGg	p.E503G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	503	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTAATACACTCACCACCAGC	0.458																																																	0													102	82	89					15																	48805826		2197	4296	6493	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1508A>G	15.37:g.48805826T>C	ENSP00000325527:p.Glu503Gly		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.E503G	ENST00000316623.5	37	c.1508	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578554	0.65878	.	.	ENSG00000166147	ENST00000316623	D	0.87179	-2.22	5.67	5.67	0.87782	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.201562	0.51477	D	0.000091	T	0.79034	0.4378	N	0.12920	0.275	0.80722	D	1	B	0.30542	0.284	B	0.34093	0.175	T	0.76610	-0.2896	10	0.30078	T	0.28	.	15.0973	0.72244	0.0:0.0:0.0:1.0	.	503	P35555	FBN1_HUMAN	G	503	ENSP00000325527:E503G	ENSP00000325527:E503G	E	-	2	0	FBN1	46593118	1.000000	0.71417	0.953000	0.39169	0.651000	0.38670	5.740000	0.68629	2.171000	0.68590	0.528000	0.53228	GAG	FBN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.458	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	44	0	T			48805826	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C	C	48805826	T	C	48805826	3	2	86	1	0	0	0	0	1	0	0	0	5724	1551	54	4	7323	4	FBN1	15	48805826	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	13062895	48805826	53725566	184	23060											
HDC	3067	genome.wustl.edu	37	chr15	50544900	50544900	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccccttcagaaacccccGgaactcggggcacaggaagg	12	4	11	14	2	1	1	1	0	0	1	3	3	2	3	4	5	2	1	4	5	4	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:50544900G>T	ENST00000267845.3	-	8	1261	c.859C>A	c.(859-861)Cgg>Agg	p.R287R	HDC_ENST00000543581.1_Silent_p.R287R	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGAAACCCCCGGAACTCGGGG	0.557																																					GBM(95;1627 1936 6910 9570)												0													53	55	54					15																	50544900		2196	4295	6491	SO:0001819	synonymous_variant	0				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.859C>A	15.37:g.50544900G>T				Silent	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R287	ENST00000267845.3	37	c.859	CCDS10134.1	15																																																																																			HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	ENSG00000140287		0.557	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1		0	48	0	G			50544900	-1			no_errors	ENST00000267845	ensembl	human	known	74_37	silent	8.82	31	3	SNP	1.000	T	T	50544900	G	T	50544900	2	4	86	1	0	0	0	0	0	0	0	1	7042	1115	39	2		2	HDC	15	50544900	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	1739074	50544900	51986492	185	23061											
WDR72	256764	genome.wustl.edu	37	chr15	54003577	54003577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgaccatcttctgtccaGatgaggattctgtgagcagc	8	12	11	10	0	3	4	0	3	3	1	4	5	4	5	2	1	2	1	2	1	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:54003577G>A	ENST00000396328.1	-	8	1052	c.813C>T	c.(811-813)atC>atT	p.I271I	WDR72_ENST00000360509.5_Silent_p.I271I|WDR72_ENST00000559418.1_Silent_p.I271I|WDR72_ENST00000557913.1_Silent_p.I270I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	271										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCTGTCCAGATGAGGATTC	0.433																																																	0													121	110	114					15																	54003577		2194	4293	6487	SO:0001819	synonymous_variant	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"WD repeat domain containing"	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.813C>T	15.37:g.54003577G>A			Q7Z3I3|Q8N8X2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I271	ENST00000396328.1	37	c.813	CCDS10151.1	15																																																																																			WDR72	-	superfamily_WD40_repeat_dom	ENSG00000166415		0.433	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	-	0	58	0	G	NM_182758		54003577	-1	tier1	-	no_errors	ENST00000360509	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	A	A	54003577	G	A	54003577	2	1	86	1	0	0	0	0	0	0	0	1	17371	932	33	3		3	WDR72	15	54003577	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	3458677	54003577	48527815	186	23062											
RORA	6095	genome.wustl.edu	37	chr15	60792129	60792129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcggtgattcttctgtaGgacgtgttgaagagctagct	7	15	12	7	2	3	3	0	2	3	1	4	4	3	4	0	2	2	4	0	2	3	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:60792129G>T	ENST00000335670.6	-	10	1469	c.1369C>A	c.(1369-1371)Cta>Ata	p.L457I	RORA_ENST00000261523.5_Missense_Mutation_p.L490I|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.L402I|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.L482I	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	457	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTTCTGTAGGACGTGTTGA	0.408																																																	0													282	251	261					15																	60792129		2203	4299	6502	SO:0001583	missense	0			U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"Nuclear hormone receptors"	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1369C>A	15.37:g.60792129G>T	ENSP00000335087:p.Leu457Ile		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.L490I	ENST00000335670.6	37	c.1468	CCDS10177.1	15	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740151	0.49045	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01	5.66	4.75	0.60458	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.92811	0.7714	N	0.13371	0.34	0.80722	D	1	B;B;B;B	0.29716	0.076;0.255;0.036;0.076	B;P;P;B	0.47118	0.253;0.538;0.454;0.253	D	0.86886	0.2045	10	0.06236	T	0.91	.	9.2008	0.37258	0.2173:0.0:0.7827:0.0	.	457;482;490;402	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	I	457;402;482;490	ENSP00000335087:L457I;ENSP00000402971:L402I;ENSP00000309753:L482I;ENSP00000261523:L490I	ENSP00000261523:L490I	L	-	1	2	RORA	58579421	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.102000	0.57776	1.527000	0.49086	0.655000	0.94253	CTA	RORA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000069667		0.408	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RORA	HGNC	protein_coding	OTTHUMT00000256142.2		0	55	0	G			60792129	-1			no_errors	ENST00000261523	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	60792129	G	T	60792129	3	4	86	1	0	0	0	0	1	0	0	0	13573	991	35	3	210	3	RORA	15	60792129	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	6788552	60792129	41739263	187	23063											
PAQR5	54852	genome.wustl.edu	37	chr15	69652441	69652441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagcctgaagctccccAggctgtttagcatagaccag	9	9	11	12	0	0	3	0	2	0	1	1	3	1	3	4	1	4	5	4	1	3	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:69652441A>G	ENST00000340965.3	+	3	690	c.22A>G	c.(22-24)Agg>Ggg	p.R8G	PAQR5_ENST00000395407.2_Missense_Mutation_p.R8G|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000561153.1_Missense_Mutation_p.R8G	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	8					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GAAGCTCCCCAGGCTGTTTAG	0.547																																																	0													134	120	125					15																	69652441		2200	4298	6498	SO:0001583	missense	0				CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"membrane progestin receptor gamma"	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.22A>G	15.37:g.69652441A>G	ENSP00000343877:p.Arg8Gly		Q8IXU2	Missense_Mutation	SNP	pfam_HlyIII-related	p.R8G	ENST00000340965.3	37	c.22	CCDS10232.1	15	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377831	0.42105	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.26518	1.73;1.73	5.02	3.9	0.45041	.	0.114785	0.64402	D	0.000011	T	0.20618	0.0496	L	0.43598	1.365	0.37085	D	0.899168	B	0.27380	0.177	B	0.27076	0.076	T	0.10683	-1.0619	10	0.33940	T	0.23	-6.4697	8.73	0.34494	0.7917:0.2083:0.0:0.0	.	8	Q9NXK6	MPRG_HUMAN	G	8	ENSP00000378803:R8G;ENSP00000343877:R8G	ENSP00000343877:R8G	R	+	1	2	PAQR5	67439495	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	1.581000	0.36558	0.937000	0.37394	0.459000	0.35465	AGG	PAQR5	-	NULL	ENSG00000137819		0.547	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR5	HGNC	protein_coding	OTTHUMT00000416671.1	-	0	33	0	A	NM_017705		69652441	1	tier1	-	no_errors	ENST00000340965	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	G	G	69652441	A	G	69652441	3	3	86	1	0	0	0	0	1	0	0	0	11477	179	7	4	24	4	PAQR5	15	69652441	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	8860312	69652441	32878951	188	23064											
LRRC49	54839	genome.wustl.edu	37	chr15	71329574	71329574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaaacctggtattatcaAcgaagaaaataatgacagca	22	7	6	6	1	1	2	1	1	0	1	1	3	1	2	1	1	3	2	1	1	10	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:71329574A>T	ENST00000260382.5	+	15	2020	c.1760A>T	c.(1759-1761)aAc>aTc	p.N587I	LRRC49_ENST00000443425.2_Missense_Mutation_p.N543I|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592I|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275I|LRRC49_ENST00000560691.1_Missense_Mutation_p.N293I|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577I	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	587						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318																																																	1	Substitution - Missense(1)	prostate(1)											85	93	91					15																	71329574		2199	4295	6494	SO:0001583	missense	0				CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1760A>T	15.37:g.71329574A>T	ENSP00000260382:p.Asn587Ile		B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.N587I	ENST00000260382.5	37	c.1760	CCDS32282.1	15	.	.	.	.	.	.	.	.	.	.	A	8.321	0.824334	0.16678	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.35421	1.31;1.31;1.31	5.04	-6.24	0.02046	.	0.634375	0.17060	N	0.188588	T	0.22044	0.0531	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.22541	0.034;0.056;0.071;0.042;0.045	B;B;B;B;B	0.25291	0.019;0.043;0.059;0.027;0.045	T	0.07158	-1.0787	10	0.22109	T	0.4	-0.4476	17.7229	0.88357	0.2339:0.0:0.7661:0.0	.	592;559;543;587;577	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	I	577;587;543;559	ENSP00000439600:N577I;ENSP00000260382:N587I;ENSP00000414065:N543I	ENSP00000260382:N587I	N	+	2	0	LRRC49	69116628	0.100000	0.21855	0.026000	0.17262	0.927000	0.56198	-0.553000	0.06012	-1.105000	0.03011	0.533000	0.62120	AAC	LRRC49	-	NULL	ENSG00000137821		0.318	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRC49	HGNC	protein_coding	OTTHUMT00000417209.3		0	32	0	A	NM_017691		71329574	1			no_errors	ENST00000260382	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.011	T	T	71329574	A	T	71329574	3	4	86	1	0	0	0	0	1	0	0	0	9041	43	2	5	1818	5	LRRC49	15	71329574	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	1677133	71329574	31201818	189	23065											
RASGRF1	5923	genome.wustl.edu	37	chr15	79341902	79341902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtctgggtggactggatgCgctcattgtccttgagcagg	6	11	15	9	1	2	1	1	1	1	0	3	3	3	3	1	4	2	2	1	4	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:79341902C>T	ENST00000419573.3	-	4	834	c.560G>A	c.(559-561)cGc>cAc	p.R187H	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.R187H	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	187					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGACTGGATGCGCTCATTGTC	0.572																																																	0													126	99	108					15																	79341902		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.560G>A	15.37:g.79341902C>T	ENSP00000405963:p.Arg187His		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R187H	ENST00000419573.3	37	c.560	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837281	0.91117	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.40476	1.03	5.15	5.15	0.70609	.	0.673907	0.14360	N	0.324518	T	0.53302	0.1788	L	0.46157	1.445	0.80722	D	1	P;P;P;P	0.51057	0.941;0.941;0.941;0.916	P;P;P;P	0.54965	0.587;0.701;0.587;0.765	T	0.51371	-0.8714	10	0.59425	D	0.04	.	16.1717	0.81822	0.0:1.0:0.0:0.0	.	187;187;187;187	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	H	187	ENSP00000405963:R187H	ENSP00000378224:R187H	R	-	2	0	RASGRF1	77128957	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.570000	0.67398	2.660000	0.90430	0.655000	0.94253	CGC	RASGRF1	-	NULL	ENSG00000058335		0.572	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3		0	31	0	C	NM_002891		79341902	-1			no_errors	ENST00000419573	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.994	T	T	79341902	C	T	79341902	3	4	86	1	0	0	0	0	1	0	0	0	13117	768	27	1	3361	1	RASGRF1	15	79341902	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	8012328	79341902	23189490	190	23066											
AGBL1	123624	genome.wustl.edu	37	chr15	87089267	87089267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatggccactcccaaaagaAgaatgtgttcctttatggct	11	11	8	11	0	0	2	0	0	0	2	2	2	2	2	4	2	0	2	4	2	5	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:87089267A>G	ENST00000441037.2	+	19	2677	c.2582A>G	c.(2581-2583)aAg>aGg	p.K861R	AGBL1_ENST00000421325.2_Missense_Mutation_p.K861R|AGBL1_ENST00000389298.3_Missense_Mutation_p.K592R	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	861					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCCCAAAAGAAGAATGTGTTC	0.438																																																	0													116	108	111					15																	87089267		1925	4142	6067	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2582A>G	15.37:g.87089267A>G	ENSP00000413001:p.Lys861Arg		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.K861R	ENST00000441037.2	37	c.2582	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	A	20.7	4.030368	0.75504	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.10573	2.86;2.86	5.53	4.41	0.53225	Peptidase M14, carboxypeptidase A (1);	1.052520	0.07812	U	0.958378	T	0.18425	0.0442	L	0.46157	1.445	0.30817	N	0.738263	B	0.33477	0.413	B	0.42738	0.396	T	0.21280	-1.0250	10	0.66056	D	0.02	-11.896	10.9616	0.47389	0.9272:0.0:0.0728:0.0	.	861	Q96MI9	CBPC4_HUMAN	R	896;861;592	ENSP00000397173:K861R;ENSP00000373949:K592R	ENSP00000373949:K592R	K	+	2	0	AGBL1	84890271	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.817000	0.75252	1.107000	0.41642	0.533000	0.62120	AAG	AGBL1	-	pfam_Peptidase_M14	ENSG00000166748		0.438	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	64	0	A	NM_152336		87089267	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	25.93	40	14	SNP	1.000	G	G	87089267	A	G	87089267	3	3	86	1	0	0	0	0	1	0	0	0	375	72	3	4	2652	4	AGBL1	15	87089267	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	7747365	87089267	15442125	191	23067											
DET1	55070	genome.wustl.edu	37	chr15	89074069	89074069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgagggaattgatgaaagGatccctaaagggattggcca	13	10	13	5	0	0	3	0	3	0	0	1	6	1	6	2	4	0	0	2	4	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr15:89074069G>T	ENST00000268148.8	-	2	1013	c.868C>A	c.(868-870)Cct>Act	p.P290T	DET1_ENST00000564406.1_Missense_Mutation_p.P301T|DET1_ENST00000444300.1_Missense_Mutation_p.P301T|DET1_ENST00000558413.1_3'UTR|DET1_ENST00000559656.1_5'Flank	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	290						nucleus (GO:0005634)		p.P301S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTGATGAAAGGATCCCTAAAG	0.522																																																	1	Substitution - Missense(1)	lung(1)											48	48	48					15																	89074069		1981	4163	6144	SO:0001583	missense	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.868C>A	15.37:g.89074069G>T	ENSP00000268148:p.Pro290Thr		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.P301T	ENST00000268148.8	37	c.901	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	11.10	1.540772	0.27563	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	5.24	0.73138	.	0.101830	0.64402	D	0.000002	T	0.37073	0.0990	N	0.10874	0.06	0.45806	D	0.998682	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.23476	-1.0187	9	0.09084	T	0.74	-25.3906	15.9261	0.79618	0.0:0.0:0.864:0.136	.	290;301	Q7L5Y6;B3KNN6	DET1_HUMAN;.	T	301;290	.	ENSP00000268148:P290T	P	-	1	0	DET1	86875073	1.000000	0.71417	0.969000	0.41365	0.998000	0.95712	6.594000	0.74104	1.584000	0.49913	0.655000	0.94253	CCT	DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.522	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2		0	45	0	G	NM_017996		89074069	-1			no_errors	ENST00000444300	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.996	T	T	89074069	G	T	89074069	3	4	86	1	0	0	0	0	1	0	0	0	4464	1174	41	3	800	3	DET1	15	89074069	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	1984802	89074069	13457323	192	23068											
CACNA1H	8912	genome.wustl.edu	37	chr16	1250520	1250520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgactccaacccccacaaCggtgccatcaacttcgacaa	12	6	7	16	2	1	1	1	1	0	0	3	2	2	1	4	2	4	0	4	2	4	1	rs369894677		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr16:1250520C>T	ENST00000348261.5	+	7	1316	c.1068C>T	c.(1066-1068)aaC>aaT	p.N356N	CACNA1H_ENST00000565831.1_Silent_p.N356N|CACNA1H_ENST00000358590.4_Silent_p.N356N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	356					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.N356N(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACCCCCACAACGGTGCCATCA	0.657																																																	2	Substitution - coding silent(2)	lung(2)						G	,	0,4264		0,0,2132	59	65	63		1068,1068	-0.2	1	16		63	1,8449		0,1,4224	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	0,1,6356	TT,TC,CC		0.0118,0.0,0.0079	,	356/2348,356/2354	1250520	1,12713	2132	4225	6357	SO:0001819	synonymous_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1068C>T	16.37:g.1250520C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.N356	ENST00000348261.5	37	c.1068	CCDS45375.1	16																																																																																			CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	72	0	C	NM_001005407		1250520	1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	silent	16.00	61	12	SNP	0.992	T	T	1250520	C	T	1250520	2	4	86	1	0	0	0	0	0	0	0	1	2552	535	19	1		1	CACNA1H	16	1250520	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09		1250520	89104233	193	23069											
FLYWCH1	84256	genome.wustl.edu	37	chr16	2983971	2983971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccccaacacggcgcagcggGggagcccaggtacctggggg	7	2	18	14	3	0	0	0	0	0	0	0	1	0	1	4	6	4	2	4	6	2	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr16:2983971G>T	ENST00000253928.9	+	6	1909	c.1504G>T	c.(1504-1506)Ggg>Tgg	p.G502W	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.G502W|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.G501W			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	502						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGCGCAGCGGGGGAGCCCAGG	0.716																																																	0													4	5	5					16																	2983971		1832	3880	5712	SO:0001583	missense	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"Zinc fingers"	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1504G>T	16.37:g.2983971G>T	ENSP00000253928:p.Gly502Trp		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	pfam_Znf_FLYWCH	p.G502W	ENST00000253928.9	37	c.1504		16	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620425	0.46736	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	T	0.47673	0.1458	N	0.22421	0.69	0.09310	N	1	D;D;D	0.76494	0.997;0.992;0.999	D;P;D	0.66979	0.947;0.869;0.948	T	0.30909	-0.9962	8	0.62326	D	0.03	.	11.5312	0.50612	0.0:0.0:1.0:0.0	.	502;502;501	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	W	502;502;501	.	ENSP00000253928:G502W	G	+	1	0	FLYWCH1	2923972	0.491000	0.26019	0.005000	0.12908	0.149000	0.21700	4.356000	0.59430	2.427000	0.82271	0.462000	0.41574	GGG	FLYWCH1	-	NULL	ENSG00000059122		0.716	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	-	0	17	0	G	NM_032296		2983971	1	tier1	-	no_errors	ENST00000399667	ensembl	human	known	74_37	missense	20.00	15	4	SNP	0.005	T	T	2983971	G	T	2983971	3	4	86	1	0	0	0	0	1	0	0	0	5969	1232	43	3	1515	3	FLYWCH1	16	2983971	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	1733451	2983971	87370782	194	23070											
TIGD7	91151	genome.wustl.edu	37	chr16	3349697	3349697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaccatcctcactggttagGgattcagaggaaggatgagc	11	8	13	9	1	2	2	2	1	0	1	3	6	3	5	2	4	1	1	2	4	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr16:3349697G>T	ENST00000396862.1	-	2	2746	c.918C>A	c.(916-918)tcC>tcA	p.S306S	TIGD7_ENST00000268674.2_Silent_p.S306S|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	306	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CACTGGTTAGGGATTCAGAGG	0.438																																																	0													50	50	50					16																	3349697		2197	4300	6497	SO:0001819	synonymous_variant	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.918C>A	16.37:g.3349697G>T			Q9BXZ0	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.S306	ENST00000396862.1	37	c.918	CCDS10500.1	16																																																																																			TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000140993		0.438	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1		0	28	0	G	NM_033208		3349697	-1			no_errors	ENST00000268674	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.486	T	T	3349697	G	T	3349697	2	4	86	1	0	0	0	0	0	0	0	1	15948	1219	43	3		3	TIGD7	16	3349697	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	365726	3349697	87005056	195	23071											
TRAP1	10131	genome.wustl.edu	37	chr16	3722755	3722755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccttggtctggatgaGgactttgcggctgtacagtg	5	12	16	8	2	1	1	0	1	1	0	1	3	1	3	1	5	2	2	1	5	1	3	rs139081468	byFrequency	TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr16:3722755G>T	ENST00000246957.5	-	10	1199	c.1111C>A	c.(1111-1113)Ctc>Atc	p.L371I	TRAP1_ENST00000538171.1_Missense_Mutation_p.L318I|TRAP1_ENST00000573872.1_Intron|TRAP1_ENST00000575671.1_Missense_Mutation_p.L162I	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	371					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTCTGGATGAGGACTTTGCGG	0.617																																																	0													139	96	111					16																	3722755		2196	4300	6496	SO:0001583	missense	0			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"Heat shock proteins / HSPC"	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1111C>A	16.37:g.3722755G>T	ENSP00000246957:p.Leu371Ile		B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.L371I	ENST00000246957.5	37	c.1111	CCDS10508.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.195860	0.94960	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.21932	1.98;1.98	5.35	5.35	0.76521	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	H	0.94542	3.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	T	0.72207	-0.4360	10	0.87932	D	0	-38.8695	18.3915	0.90485	0.0:0.0:1.0:0.0	.	318;371	F5H897;Q12931	.;TRAP1_HUMAN	I	371;318	ENSP00000246957:L371I;ENSP00000442070:L318I	ENSP00000246957:L371I	L	-	1	0	TRAP1	3662756	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.338000	0.96553	2.665000	0.90641	0.491000	0.48974	CTC	TRAP1	-	pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam	ENSG00000126602		0.617	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAP1	HGNC	protein_coding	OTTHUMT00000251586.2	-	0	50	0	G	NM_016292		3722755	-1	tier1	-	no_errors	ENST00000246957	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	3722755	G	T	3722755	3	4	86	1	0	0	0	0	1	0	0	0	16503	1000	35	3	1039	3	TRAP1	16	3722755	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	373058	3722755	86631998	196	23072											
USP7	7874	genome.wustl.edu	37	chr16	8989526	8989527	+	Frame_Shift_Ins	INS	-	-	G																															gaaacgtccggctcgttgcaINSggagataaacattctaatag																										TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr16:8989526_8989527insG	ENST00000344836.4	-	27	3089_3090	c.2891_2892insC	c.(2890-2892)cctfs	p.P964fs	USP7_ENST00000381886.4_Frame_Shift_Ins_p.P948fs|USP7_ENST00000535863.1_Frame_Shift_Ins_p.P865fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	964					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGCTCGTTGCAGGAGATAAACA	0.411																																																	0																																										SO:0001589	frameshift_variant	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2892dupC	16.37:g.8989528_8989528dupG	ENSP00000343535:p.Pro964fs		A6NMY8|B7Z815|H0Y3G8	Frame_Shift_Ins	INS	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.A965fs	ENST00000344836.4	37	c.2892_2891	CCDS32385.1	16																																																																																			USP7	-	NULL	ENSG00000187555		0.411	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0	48	0	-			8989527	-1	tier1		no_errors	ENST00000344836	ensembl	human	known	74_37	frame_shift_ins	15.52	49	9	INS	0.071:1.000	G	G	8989527	-	G	8989526	7	5	86	1	0	1	1	0	0	0	0	0	17137	175	7	0	436	0	USP7	16	8989526	Frame_Shift_Ins	INS	-	TCGA-L5-A8NL-01A-12D-A37C-09	5266771	8989526	81365227	197	23073											
MT1H	4496	genome.wustl.edu	37	chr16	56703817	56703817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaccccaactgctcctgCgaggctggtaaggaacgccc	9	6	12	14	2	0	0	0	0	0	0	1	3	1	2	4	4	4	3	4	4	3	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr16:56703817C>T	ENST00000332374.4	+	1	92	c.21C>T	c.(19-21)tgC>tgT	p.C7C	MT1G_ENST00000568675.1_5'Flank|MT1G_ENST00000569500.1_5'Flank|MT1G_ENST00000444837.2_5'Flank|MT1G_ENST00000379811.3_5'Flank|MT1H_ENST00000569155.1_Silent_p.C7C	NM_005951.2	NP_005942.1	P80294	MT1H_HUMAN	metallothionein 1H	7	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			lung(5)	5						ACTGCTCCTGCGAGGCTGGTA	0.567																																																	0													134	127	129					16																	56703817		2198	4300	6498	SO:0001819	synonymous_variant	0			BC008408	CCDS10767.1	16q13	2008-02-05			ENSG00000205358	ENSG00000205358		"Metallothioneins"	7400	protein-coding gene	gene with protein product		156354		MT1		2286373, 8049263	Standard	NM_005951		Approved		uc002ejw.3	P80294	OTTHUMG00000133283	ENST00000332374.4:c.21C>T	16.37:g.56703817C>T			B2RUY6	Silent	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.C7	ENST00000332374.4	37	c.21	CCDS10767.1	16																																																																																			MT1H	-	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	ENSG00000205358		0.567	MT1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT1H	HGNC	protein_coding	OTTHUMT00000257063.1	-	0	92	0	C	NM_005951		56703817	1	tier1	-	no_errors	ENST00000332374	ensembl	human	known	74_37	silent	5.83	97	6	SNP	0.025	T	T	56703817	C	T	56703817	2	4	86	1	0	0	0	0	0	0	0	1	9940	776	27	1		1	MT1H	16	56703817	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	47714291	56703817	33650936	198	23074											
WWOX	51741	genome.wustl.edu	37	chr16	78142384	78142384	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaacgagtggcaggaGgtttgtatgttgttgtctaa	13	12	13	3	1	1	1	0	0	1	1	1	3	1	2	0	3	1	5	0	3	5	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr16:78142384G>A	ENST00000566780.1	+	2	538	c.172G>A	c.(172-174)Gat>Aat	p.D58N	WWOX_ENST00000408984.3_Splice_Site_p.D58N|WWOX_ENST00000406884.2_Splice_Site_p.D58N|WWOX_ENST00000539474.2_Splice_Site_p.D58N|WWOX_ENST00000355860.3_Splice_Site_p.D58N|WWOX_ENST00000402655.2_Splice_Site_p.D58N	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	58	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		AGTGGCAGGAGGTTTGTATGT	0.408																																																	0													98	114	109					16																	78142384		1897	4122	6019	SO:0001630	splice_region_variant	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	12799	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 41C, member 1"	605131	"WW domain-containing oxidoreductase"			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.172+1G>A	16.37:g.78142384G>A			A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.D58N	ENST00000566780.1	37	c.172	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.260909	0.95368	.	.	ENSG00000186153	ENST00000408984;ENST00000355860;ENST00000402655;ENST00000406884;ENST00000539474	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.42	5.42	0.78866	WW/Rsp5/WWP (4);	0.123896	0.53938	D	0.000054	T	0.67373	0.2886	L	0.51422	1.61	0.54753	D	0.999988	D;P;P;P	0.61697	0.99;0.949;0.846;0.811	D;B;B;P	0.63488	0.915;0.415;0.398;0.668	T	0.67948	-0.5538	10	0.56958	D	0.05	.	19.2155	0.93776	0.0:0.0:1.0:0.0	.	58;58;58;58	Q9NZC7-6;Q9NZC7-5;Q9NZC7;Q9NZC7-3	.;.;WWOX_HUMAN;.	N	58	ENSP00000386161:D58N;ENSP00000348119:D58N;ENSP00000384238:D58N;ENSP00000384495:D58N;ENSP00000445210:D58N	ENSP00000348119:D58N	D	+	1	0	WWOX	76699885	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.358000	0.97109	2.553000	0.86117	0.655000	0.94253	GAT	WWOX	-	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000186153		0.408	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	-	0	56	0	G		Missense_Mutation	78142384	1	tier1	-	no_errors	ENST00000566780	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	A	A	78142384	G	A	78142384	5	1	86	1	0	0	0	0	0	0	1	0	17463	1014	35	3	182	3	WWOX	16	78142384	Splice_Site	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	21438567	78142384	12212369	199	23075											
TP53	7157	genome.wustl.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1	rs587780070		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	GRCh37	CM067054	TP53	M							47	47	47					17																	7578395		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H179Y	ENST00000269305.4	37	c.535	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	36	0	G	NM_000546		7578395	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	A	A	7578395	G	A	7578395	3	1	86	1	0	0	0	0	1	0	0	0	16429	1348	47	3	763	3	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		7578395	73616815	200	23076											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8215791	8215791	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctcagaatggctctgcctCagctcctggcactgtgcgga	6	9	13	13	1	3	1	2	0	1	1	4	2	4	2	2	4	3	4	2	4	1	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr17:8215791C>G	ENST00000361926.3	+	2	544	c.434C>G	c.(433-435)tCa>tGa	p.S145*	ARHGEF15_ENST00000421050.1_Nonsense_Mutation_p.S145*	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	145					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GGCTCTGCCTCAGCTCCTGGC	0.672																																																	0													53	54	53					17																	8215791		2203	4300	6503	SO:0001587	stop_gained	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.434C>G	17.37:g.8215791C>G	ENSP00000355026:p.Ser145*		A8K6G1|Q8N449|Q9H8B4	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S145*	ENST00000361926.3	37	c.434	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292465	0.80914	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	.	.	.	5.12	5.12	0.69794	.	1.787260	0.03046	N	0.153884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.5299	13.983	0.64317	0.0:1.0:0.0:0.0	.	.	.	.	X	145;46;145	.	ENSP00000355026:S145X	S	+	2	0	ARHGEF15	8156516	0.932000	0.31603	0.881000	0.34555	0.925000	0.55904	3.576000	0.53878	2.688000	0.91661	0.555000	0.69702	TCA	ARHGEF15	-	NULL	ENSG00000198844		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	-	0	125	0	C	NM_173728		8215791	1	tier1	-	no_errors	ENST00000361926	ensembl	human	known	74_37	nonsense	18.42	62	14	SNP	0.931	G	G	8215791	C	G	8215791	4	3	86	1	0	0	0	0	0	1	0	0	898	838	29	5	436	5	ARHGEF15	17	8215791	Nonsense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	637396	8215791	72979419	201	23077											
PIK3R5	23533	genome.wustl.edu	37	chr17	8791758	8791758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctcaggggcagggccGtgtccgagctgccctccagg	4	5	15	17	3	1	0	1	0	0	0	3	1	3	0	6	4	2	2	6	4	0	0	rs368972251		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr17:8791758G>A	ENST00000447110.1	-	10	1470	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	PIK3R5_ENST00000584803.1_Missense_Mutation_p.T449M|PIK3R5_ENST00000581552.1_Missense_Mutation_p.T449M	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	449					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCAGGGCCGTGTCCGAGCT	0.672																																					NSCLC(18;589 615 7696 20311 50332)												0													8	10	9					17																	8791758		2167	4270	6437	SO:0001583	missense	0			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1346C>T	17.37:g.8791758G>A	ENSP00000392812:p.Thr449Met		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.T449M	ENST00000447110.1	37	c.1346	CCDS11147.1	17	.	.	.	.	.	.	.	.	.	.	G	4.319	0.058629	0.08339	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77489	-1.1	4.59	1.43	0.22495	.	1.666930	0.02848	N	0.128764	T	0.59756	0.2217	N	0.14661	0.345	0.09310	N	1	P	0.40282	0.711	B	0.31442	0.13	T	0.55392	-0.8148	10	0.46703	T	0.11	1.032	6.2308	0.20734	0.1729:0.1598:0.6673:0.0	.	449	Q8WYR1	PI3R5_HUMAN	M	449	ENSP00000392812:T449M	ENSP00000269300:T449M	T	-	2	0	PIK3R5	8732483	0.000000	0.05858	0.001000	0.08648	0.529000	0.34654	0.117000	0.15583	0.177000	0.19895	0.484000	0.47621	ACG	PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.672	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	-	0	66	0	G	NM_014308		8791758	-1	tier1	-	no_errors	ENST00000447110	ensembl	human	known	74_37	missense	17.07	34	7	SNP	0.001	A	A	8791758	G	A	8791758	3	1	86	1	0	0	0	0	1	0	0	0	11961	1145	40	1	1336	1	PIK3R5	17	8791758	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	575967	8791758	72403452	202	23078											
STAT3	6774	genome.wustl.edu	37	chr17	40475078	40475078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttctttgctgctttcaCtgaatcttagcaggaaggtg	7	15	9	10	0	3	1	1	1	2	0	4	2	4	2	1	2	3	3	1	2	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr17:40475078C>T	ENST00000264657.5	-	20	2144	c.1832G>A	c.(1831-1833)aGt>aAt	p.S611N	STAT3_ENST00000585517.1_Missense_Mutation_p.S611N|STAT3_ENST00000404395.3_Missense_Mutation_p.S611N|STAT3_ENST00000389272.3_Missense_Mutation_p.S513N|STAT3_ENST00000588969.1_Missense_Mutation_p.S611N	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	611	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		S -> N (in AD-HIES). {ECO:0000269|PubMed:17881745}.		acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCTGCTTTCACTGAATCTTAG	0.572									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			GRCh37	CM076543	STAT3	M							141	132	135					17																	40475078		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1832G>A	17.37:g.40475078C>T	ENSP00000264657:p.Ser611Asn	893	A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.S611N	ENST00000264657.5	37	c.1832	CCDS32656.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357276	0.82243	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.95069	-3.6;-3.6;-3.6	5.29	5.29	0.74685	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	M	0.70108	2.13	0.80722	D	1	B;B;B	0.22983	0.063;0.078;0.078	B;B;B	0.25987	0.039;0.065;0.065	D	0.92076	0.5668	10	0.87932	D	0	-36.0514	19.12	0.93358	0.0:1.0:0.0:0.0	.	611;611;611	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	N	611;513;611	ENSP00000264657:S611N;ENSP00000373923:S513N;ENSP00000384943:S611N	ENSP00000264657:S611N	S	-	2	0	STAT3	37728604	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.912000	0.69948	2.752000	0.94435	0.655000	0.94253	AGT	STAT3	-	pfam_SH2,pfscan_SH2	ENSG00000168610		0.572	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	-	0	44	0	C	NM_139276, NM_003150		40475078	-1	tier1	-	no_errors	ENST00000264657	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	40475078	C	T	40475078	3	4	86	1	0	0	0	0	1	0	0	0	15313	565	20	3	500	3	STAT3	17	40475078	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	31683320	40475078	40720132	203	23079											
KCNJ16	3773	genome.wustl.edu	37	chr17	68128730	68128730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctttatcattggagctGccttggccaaaatggcaact	11	12	8	10	0	1	0	1	0	0	0	1	1	1	1	3	3	4	2	3	3	5	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr17:68128730G>T	ENST00000589377.1	+	2	665	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S	KCNJ16_ENST00000283936.1_Missense_Mutation_p.A168S|KCNJ16_ENST00000392671.1_Missense_Mutation_p.A168S|KCNJ16_ENST00000585558.1_Missense_Mutation_p.A203S|KCNJ16_ENST00000392670.1_Missense_Mutation_p.A168S|KCNJ16_ENST00000586462.1_Missense_Mutation_p.A207S	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	168					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CATTGGAGCTGCCTTGGCCAA	0.453																																																	0													96	85	89					17																	68128730		2203	4300	6503	SO:0001583	missense	0			AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.502G>T	17.37:g.68128730G>T	ENSP00000465967:p.Ala168Ser			Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir	p.A168S	ENST00000589377.1	37	c.502	CCDS11687.1	17	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716075	0.48622	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.94000	-3.33;-3.33;-3.33	5.54	5.54	0.83059	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.153953	0.56097	D	0.000025	D	0.95082	0.8407	L	0.44542	1.39	0.43246	D	0.995167	D;D	0.71674	0.998;0.997	D;P	0.69307	0.963;0.908	D	0.93882	0.7172	9	.	.	.	.	19.4518	0.94871	0.0:0.0:1.0:0.0	.	168;168	A8K434;Q9NPI9	.;IRK16_HUMAN	S	168	ENSP00000283936:A168S;ENSP00000376439:A168S;ENSP00000376438:A168S	.	A	+	1	0	KCNJ16	65640325	1.000000	0.71417	0.653000	0.29593	0.104000	0.19210	6.640000	0.74319	2.764000	0.94973	0.650000	0.86243	GCC	KCNJ16	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000153822		0.453	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ16	HGNC	protein_coding	OTTHUMT00000450880.1	-	0	62	0	G	NM_018658		68128730	1	tier1	-	no_errors	ENST00000283936	ensembl	human	known	74_37	missense	15.69	43	8	SNP	0.999	T	T	68128730	G	T	68128730	3	4	86	1	0	0	0	0	1	0	0	0	8077	1319	46	3	504	3	KCNJ16	17	68128730	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	27653652	68128730	13066480	204	23080											
RNF213	57674	genome.wustl.edu	37	chr17	78272202	78272202	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcgccctgcctgtcctGcactgctgtatggagctggc	3	10	14	14	1	0	0	0	0	0	0	1	1	1	1	3	3	4	4	3	3	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr17:78272202G>C	ENST00000582970.1	+	11	2237	c.2094G>C	c.(2092-2094)ctG>ctC	p.L698L	RNF213_ENST00000508628.2_Silent_p.L747L|RNF213_ENST00000456466.1_Silent_p.L698L|RNF213_ENST00000319921.4_Silent_p.L698L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	698					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L698L(2)|p.L747L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCCTGTCCTGCACTGCTGTA	0.622																																																	3	Substitution - coding silent(3)	lung(3)											71	58	62					17																	78272202		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.2094G>C	17.37:g.78272202G>C			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L698	ENST00000582970.1	37	c.2094	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	28	0	G	NM_020914		78272202	1			no_errors	ENST00000582970	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.991	C	C	78272202	G	C	78272202	2	2	86	1	0	0	0	0	0	0	0	1	13522	1306	46	5		5	RNF213	17	78272202	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	10143472	78272202	2923008	205	23081											
SMCHD1	23347	genome.wustl.edu	37	chr18	2688427	2688427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgtccagtaccagtgcCacgcagtttaaatagtgata	11	12	9	9	2	0	1	0	1	0	0	2	1	1	1	3	0	2	4	3	0	5	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr18:2688427C>T	ENST00000320876.6	+	6	1012	c.674C>T	c.(673-675)cCa>cTa	p.P225L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.P225L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	225					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTACCAGTGCCACGCAGTTTA	0.348																																																	0													105	102	103					18																	2688427		1897	4116	6013	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.674C>T	18.37:g.2688427C>T	ENSP00000326603:p.Pro225Leu		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge	p.P225L	ENST00000320876.6	37	c.674	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670605	0.47781	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.24723	1.84;1.85	5.08	5.08	0.68730	ATPase-like, ATP-binding domain (2);	0.136039	0.51477	D	0.000100	T	0.42245	0.1194	L	0.55481	1.735	0.46654	D	0.999148	D	0.64830	0.994	P	0.59357	0.856	T	0.29671	-1.0004	10	0.87932	D	0	.	14.5483	0.68047	0.147:0.853:0.0:0.0	.	225	A6NHR9	SMHD1_HUMAN	L	225	ENSP00000326603:P225L;ENSP00000261598:P225L	ENSP00000261598:P225L	P	+	2	0	SMCHD1	2678427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.275000	0.51639	2.502000	0.84385	0.655000	0.94253	CCA	SMCHD1	-	superfamily_HATPase_ATP-bd	ENSG00000101596		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	-	0	82	0	C			2688427	1	tier1	-	no_errors	ENST00000320876	ensembl	human	known	74_37	missense	11.29	110	14	SNP	0.997	T	T	2688427	C	T	2688427	3	4	86	1	0	0	0	0	1	0	0	0	14833	594	21	3	696	3	SMCHD1	18	2688427	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09		2688427	75388821	206	23082											
KIAA0802	23255	genome.wustl.edu	37	chr18	8793068	8793068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggtcagctcgtgcaggcgGccagactgcatcaagaggag	10	5	16	10	2	2	2	2	0	0	2	3	3	2	3	1	4	3	3	1	4	1	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr18:8793068G>A	ENST00000359865.3	+	8	2102	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000518815.1_Intron	NM_015210.3	NP_056025.2												p.A654P(1)									CGTGCAGGCGGCCAGACTGCA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											99	109	106					18																	8793068		2203	4300	6503	SO:0001583	missense	0																														ENST00000359865.3:c.1960G>A	18.37:g.8793068G>A	ENSP00000352927:p.Ala654Thr			Missense_Mutation	SNP	pfam_SOGA	p.A654T	ENST00000359865.3	37	c.1960	CCDS11841.1	18	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121579	0.37436	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.35789	1.29	5.68	-1.89	0.07689	.	0.762462	0.11601	N	0.547742	T	0.09512	0.0234	N	0.00707	-1.245	0.52501	D	0.999957	B	0.02656	0.0	B	0.04013	0.001	T	0.32455	-0.9906	10	0.14252	T	0.57	.	8.3738	0.32432	0.4585:0.109:0.4325:0.0	.	654	Q9Y4B5-3	.	T	675;654	ENSP00000352927:A654T	ENSP00000305027:A675T	A	+	1	0	CCDC165	8783068	1.000000	0.71417	0.491000	0.27477	0.894000	0.52154	0.921000	0.28718	-0.615000	0.05679	0.561000	0.74099	GCC	SOGA2	-	NULL	ENSG00000168502		0.512	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000254476.1		0	36	0	G			8793068	1			no_errors	ENST00000359865	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.711	A	A	8793068	G	A	8793068	3	1	86	1	0	0	0	0	1	0	0	0	8221	1203	42	3	1982	3	KIAA0802	18	8793068	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	6104641	8793068	69284180	207	23083											
DSC1	1823	genome.wustl.edu	37	chr18	28737381	28737381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctcttgttgttcccGtctctgaccatctgaaagga	7	17	7	10	1	3	2	0	2	3	0	6	3	4	3	2	1	0	2	2	1	2	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr18:28737381G>A	ENST00000257198.5	-	3	565	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.R102W	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	102					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTTGTTCCCGTCTCTGACCA	0.403																																																	0													115	91	99					18																	28737381		2203	4300	6503	SO:0001583	missense	0			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"Cadherins / Major cadherins"	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.304C>T	18.37:g.28737381G>A	ENSP00000257198:p.Arg102Trp		Q9HB01	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin	p.R102W	ENST00000257198.5	37	c.304	CCDS11894.1	18	.	.	.	.	.	.	.	.	.	.	G	6.079	0.382817	0.11524	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.61392	0.11;0.11	5.45	1.43	0.22495	Cadherin prodomain-like (1);Cadherin-like (1);	1.316840	0.05168	N	0.499063	T	0.35307	0.0927	N	0.24115	0.695	0.09310	N	1	P;P	0.44521	0.669;0.837	B;B	0.24541	0.054;0.054	T	0.36016	-0.9765	10	0.87932	D	0	.	5.8595	0.18738	0.1346:0.0:0.2914:0.574	.	102;102	Q08554;Q9HB00	DSC1_HUMAN;.	W	102	ENSP00000257197:R102W;ENSP00000257198:R102W	ENSP00000257197:R102W	R	-	1	2	DSC1	26991379	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.109000	0.10840	0.299000	0.22661	0.655000	0.94253	CGG	DSC1	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000134765		0.403	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC1	HGNC	protein_coding	OTTHUMT00000254946.1	-	0	75	0	G	NM_004948, NM_024421		28737381	-1	tier1	-	no_errors	ENST00000257198	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A	A	28737381	G	A	28737381	3	1	86	1	0	0	0	0	1	0	0	0	4779	1144	40	1	2476	1	DSC1	18	28737381	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	19944313	28737381	49339867	208	23084											
MAPRE2	10982	genome.wustl.edu	37	chr18	32682021	32682021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggaaggagtatgatcctGtagaggcacgacaagggcaa	14	6	15	6	1	0	2	0	1	0	1	1	5	1	4	1	4	0	4	1	4	5	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr18:32682021G>T	ENST00000300249.5	+	4	688	c.508G>T	c.(508-510)Gta>Tta	p.V170L	MAPRE2_ENST00000589699.1_Missense_Mutation_p.V127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.V117L|MAPRE2_ENST00000436190.2_Missense_Mutation_p.V158L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.V127L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.V170L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	170					cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)		p.V170L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GTATGATCCTGTAGAGGCACG	0.463																																																	1	Substitution - Missense(1)	lung(1)											125	106	112					18																	32682021		2203	4300	6503	SO:0001583	missense	0			X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"APC-binding protein EB1"	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.508G>T	18.37:g.32682021G>T	ENSP00000300249:p.Val170Leu		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain	p.V170L	ENST00000300249.5	37	c.508	CCDS11910.1	18	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687187	0.29962	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.38	5.38	0.77491	Calponin homology domain (2);	0.061416	0.64402	D	0.000004	T	0.36744	0.0978	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.15473	0.0;0.013;0.001;0.0	B;B;B;B	0.21151	0.006;0.033;0.001;0.003	T	0.12915	-1.0529	10	0.18276	T	0.48	-15.3349	19.1073	0.93301	0.0:0.0:1.0:0.0	.	158;117;170;170	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	L	127;158;170;117	ENSP00000396074:V127L;ENSP00000407723:V158L;ENSP00000300249:V170L;ENSP00000446343:V117L	ENSP00000300249:V170L	V	+	1	0	MAPRE2	30936019	1.000000	0.71417	0.729000	0.30791	0.963000	0.63663	4.874000	0.63064	2.518000	0.84900	0.561000	0.74099	GTA	MAPRE2	-	superfamily_CH-domain	ENSG00000166974		0.463	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	MAPRE2	HGNC	protein_coding	OTTHUMT00000255753.2		0	70	0	G	NM_014268		32682021	1			no_errors	ENST00000300249	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.993	T	T	32682021	G	T	32682021	3	4	86	1	0	0	0	0	1	0	0	0	9333	1377	48	3	616	3	MAPRE2	18	32682021	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	3944640	32682021	45395227	209	23085											
ATP8B1	5205	genome.wustl.edu	37	chr18	55334367	55334367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgtcttcagtcagaaGttcacaagcaaatcctatat	12	12	9	8	0	4	1	3	0	1	1	5	1	5	1	1	2	1	2	1	2	5	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr18:55334367G>T	ENST00000283684.4	-	19	2241	c.2242C>A	c.(2242-2244)Ctt>Att	p.L748I	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.L748I|RP11-35G9.3_ENST00000591854.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	748					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCAGTCAGAAGTTCACAAGCA	0.323																																																	0													109	104	106					18																	55334367		2203	4300	6503	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2242C>A	18.37:g.55334367G>T	ENSP00000283684:p.Leu748Ile		Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L748I	ENST00000283684.4	37	c.2242	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890523	0.91889	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.93712	-3.27;-3.27	5.35	5.35	0.76521	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95999	0.8697	M	0.82056	2.57	0.80722	D	1	P	0.49862	0.929	P	0.55577	0.779	D	0.95564	0.8632	10	0.48119	T	0.1	.	19.0393	0.92992	0.0:0.0:1.0:0.0	.	748	O43520	AT8B1_HUMAN	I	748	ENSP00000283684:L748I;ENSP00000445359:L748I	ENSP00000283684:L748I	L	-	1	0	ATP8B1	53485365	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.179000	0.94861	2.657000	0.90304	0.650000	0.86243	CTT	ATP8B1	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.323	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	-	0	47	0	G	NM_005603		55334367	-1	tier1	-	no_errors	ENST00000283684	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	T	T	55334367	G	T	55334367	3	4	86	1	0	0	0	0	1	0	0	0	1195	1029	36	3	1549	3	ATP8B1	18	55334367	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	22652346	55334367	22742881	210	23086											
RTTN	25914	genome.wustl.edu	37	chr18	67753884	67753884	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttataatttctgtaggcaTtggaattacaaggagattct	12	16	8	5	0	2	1	0	0	2	1	2	3	2	2	0	3	1	2	0	3	6	8			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr18:67753884T>A	ENST00000255674.6	-	32	4625	c.4339A>T	c.(4339-4341)Atg>Ttg	p.M1447L	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.M1447L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1447					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCTGTAGGCATTGGAATTACA	0.269																																																	0													87	90	89					18																	67753884		1787	4053	5840	SO:0001583	missense	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4339A>T	18.37:g.67753884T>A	ENSP00000255674:p.Met1447Leu		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M1447L	ENST00000255674.6	37	c.4339	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	T	12.01	1.808205	0.31961	.	.	ENSG00000176225	ENST00000255674;ENST00000437017	T;T	0.61040	0.84;0.14	5.07	3.83	0.44106	.	0.073417	0.85682	D	0.000000	T	0.45538	0.1347	L	0.41236	1.265	0.80722	D	1	B	0.19073	0.033	B	0.13407	0.009	T	0.39603	-0.9606	10	0.32370	T	0.25	.	10.5324	0.44983	0.2344:0.0:0.0:0.7656	.	1447	Q86VV8	RTTN_HUMAN	L	1447	ENSP00000255674:M1447L;ENSP00000399520:M1447L	ENSP00000255674:M1447L	M	-	1	0	RTTN	65904864	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.474000	0.53129	2.031000	0.59945	0.528000	0.53228	ATG	RTTN	-	NULL	ENSG00000176225		0.269	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	-	0	75	0	T	NM_173630		67753884	-1	tier1	-	no_errors	ENST00000255674	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	67753884	T	A	67753884	3	1	86	1	0	0	0	0	1	0	0	0	13782	1493	52	5	2413	5	RTTN	18	67753884	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	12419517	67753884	10323364	211	23087											
ATP9B	374868	genome.wustl.edu	37	chr18	76936828	76936828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaggttcgtgttttattcGaactgatcaactagatggtg	10	14	10	7	2	1	2	1	1	0	1	3	3	1	2	1	2	2	2	1	2	5	5	rs140291894		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr18:76936828G>A	ENST00000426216.2	+	8	811	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	ATP9B_ENST00000307671.7_Missense_Mutation_p.R265Q	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	265					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R265Q(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TGTTTTATTCGAACTGATCAA	0.448																																																	2	Substitution - Missense(2)	large_intestine(2)						G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	106	102	103		794	5.6	1	18	dbSNP_134	103	0,8600		0,0,4300	no	missense	ATP9B	NM_198531.3	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	265/1148	76936828	2,13004	2203	4300	6503	SO:0001583	missense	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.794G>A	18.37:g.76936828G>A	ENSP00000398076:p.Arg265Gln		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R265Q	ENST00000426216.2	37	c.794	CCDS12014.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.504855	0.96371	4.54E-4	0.0	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.90444	-2.67;-2.67	5.56	5.56	0.83823	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.985	D	0.95811	0.8841	10	0.87932	D	0	.	19.5243	0.95197	0.0:0.0:1.0:0.0	.	265;265	O43861;O43861-2	ATP9B_HUMAN;.	Q	265	ENSP00000398076:R265Q;ENSP00000304500:R265Q	ENSP00000304500:R265Q	R	+	2	0	ATP9B	75037816	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	8.857000	0.92250	2.605000	0.88082	0.655000	0.94253	CGA	ATP9B	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000166377		0.448	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	HGNC	protein_coding	OTTHUMT00000256402.3		0	32	0	G	NM_198531		76936828	1			no_errors	ENST00000426216	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	76936828	G	A	76936828	3	1	86	1	0	0	0	0	1	0	0	0	1200	1058	37	1	824	1	ATP9B	18	76936828	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	9182944	76936828	1140420	212	23088											
FZR1	51343	genome.wustl.edu	37	chr19	3525874	3525874	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccttcaggtcacagaGatgcggcggaccctgacgcc	8	6	13	14	3	2	2	2	1	0	1	2	5	2	3	3	3	2	0	3	3	0	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:3525874G>T	ENST00000395095.3	+	2	78	c.78G>T	c.(76-78)gaG>gaT	p.E26D	FZR1_ENST00000441788.2_Missense_Mutation_p.E26D|FZR1_ENST00000313639.8_Missense_Mutation_p.E26D	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	26					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCACAGAGATGCGGCGGA	0.672																																																	0													35	36	36					19																	3525874		2202	4298	6500	SO:0001583	missense	0			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.78G>T	19.37:g.3525874G>T	ENSP00000378529:p.Glu26Asp		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E26D	ENST00000395095.3	37	c.78	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524469	0.27299	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.08546	3.08;3.08;3.08	4.42	3.36	0.38483	.	0.344959	0.29558	N	0.011804	T	0.04724	0.0128	N	0.14661	0.345	0.22342	N	0.999188	B;P;B	0.35493	0.0;0.505;0.0	B;B;B	0.36464	0.0;0.225;0.001	T	0.42172	-0.9467	10	0.19147	T	0.46	-51.7891	8.311	0.32071	0.1885:0.0:0.8115:0.0	.	26;26;26	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	D	26	ENSP00000410369:E26D;ENSP00000378529:E26D;ENSP00000321800:E26D	ENSP00000321800:E26D	E	+	3	2	FZR1	3476874	1.000000	0.71417	0.998000	0.56505	0.277000	0.26821	3.533000	0.53561	2.012000	0.59069	0.561000	0.74099	GAG	FZR1	-	NULL	ENSG00000105325		0.672	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	-	0	49	0	G	NM_016263		3525874	1	tier1	-	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	3525874	G	T	3525874	3	4	86	1	0	0	0	0	1	0	0	0	6162	933	33	3	84	3	FZR1	19	3525874	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		3525874	55603109	213	23089											
FARSA	2193	genome.wustl.edu	37	chr19	13041425	13041425	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattcaccccgcagctcctaCcataagctcgctctgggcca	8	8	7	18	2	2	0	1	0	1	0	4	0	3	0	5	1	3	4	5	1	2	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:13041425C>T	ENST00000314606.4	-	2	304		c.e2+1		FARSA_ENST00000588025.1_Splice_Site|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Splice_Site	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit						gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GCAGCTCCTACCATAAGCTCG	0.632																																																	0													63	50	54					19																	13041425		2203	4300	6503	SO:0001630	splice_region_variant	0			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	3592	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, alpha, cytoplasmic"	602918	"phenylalanine-tRNA synthetase-like", "phenylalanyl-tRNA synthetase-like, alpha subunit"	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.285+1G>A	19.37:g.13041425C>T			B4E363|Q9NSD8|Q9Y4W8	Splice_Site	SNP	-	e2+1	ENST00000314606.4	37	c.285+1	CCDS12287.1	19	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209760	0.79240	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5415	0.87849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FARSA	12902425	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.275000	0.78548	2.438000	0.82558	0.561000	0.74099	.	FARSA	-	-	ENSG00000179115		0.632	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	HGNC	protein_coding	OTTHUMT00000451935.1	-	0	50	0	C	NM_004461	Intron	13041425	-1	tier1	-	no_errors	ENST00000314606	ensembl	human	known	74_37	splice_site	26.47	25	9	SNP	1.000	T	T	13041425	C	T	13041425	5	4	86	1	0	0	0	0	0	0	1	0	5701	521	18	3	1288	3	FARSA	19	13041425	Splice_Site	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	9515551	13041425	46087558	214	23090											
CLEC17A	388512	genome.wustl.edu	37	chr19	14720879	14720879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcctccatccagcttCtgggagccagaggaacccaa	9	10	8	14	0	1	1	0	0	1	1	4	3	4	3	5	2	3	1	5	2	2	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:14720879C>A	ENST00000417570.1	+	14	1046	c.1008C>A	c.(1006-1008)ttC>ttA	p.F336L	CLEC17A_ENST00000397439.2_Missense_Mutation_p.L283M|CLEC17A_ENST00000547437.1_Missense_Mutation_p.L300M	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	336	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										catccagcttctgggagccaG	0.463																																																	0													98	92	94					19																	14720879		1907	4130	6037	SO:0001583	missense	0			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"C-type lectin domain containing"	34520	protein-coding gene	gene with protein product	"prolectin"					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.1008C>A	19.37:g.14720879C>A	ENSP00000393719:p.Phe336Leu		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.F336L	ENST00000417570.1	37	c.1008	CCDS56087.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.498|8.498	0.863666|0.863666	0.17250|0.17250	.|.	.|.	ENSG00000187912|ENSG00000187912	ENST00000417570|ENST00000547437;ENST00000397439	T|T;T	0.16324|0.20881	2.35|2.04;2.05	3.73|3.73	-1.41|-1.41	0.08941|0.08941	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	.|.	.|.	.|.	.|.	T|T	0.35998|0.35998	0.0951|0.0951	L|L	0.58354|0.58354	1.805|1.805	0.21416|0.21416	N|N	0.999694|0.999694	D|D	0.69078|0.89917	0.997|1.0	D|D	0.79108|0.87578	0.992|0.998	T|T	0.18461|0.18461	-1.0336|-1.0336	9|9	0.66056|0.87932	D|D	0.02|0	.|.	6.7171|6.7171	0.23310|0.23310	0.0:0.486:0.0:0.514|0.0:0.486:0.0:0.514	.|.	336|300	Q6ZS10|Q6ZS10-3	CL17A_HUMAN|.	L|M	336|300;283	ENSP00000393719:F336L|ENSP00000450065:L300M;ENSP00000380581:L283M	ENSP00000393719:F336L|ENSP00000380581:L283M	F|L	+|+	3|1	2|2	CLEC17A|CLEC17A	14581879|14581879	0.999000|0.999000	0.42202|0.42202	0.830000|0.830000	0.32933|0.32933	0.016000|0.016000	0.09150|0.09150	0.150000|0.150000	0.16263|0.16263	-0.374000|-0.374000	0.07967|0.07967	-0.766000|-0.766000	0.03442|0.03442	TTC|CTG	CLEC17A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000187912		0.463	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1	-	0	80	0	C	NM_207390		14720879	1	tier1	-	no_errors	ENST00000417570	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.964	A	A	14720879	C	A	14720879	3	1	86	1	0	0	0	0	1	0	0	0	3508	912	32	3	893	3	CLEC17A	19	14720879	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1679454	14720879	44408104	215	23091											
EMR3	84658	genome.wustl.edu	37	chr19	14774282	14774282	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgcccagatccagaagtAtatccatggttgcaggtgca	10	11	10	10	0	1	2	0	0	1	2	3	2	3	2	3	2	3	4	3	2	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:14774282A>G	ENST00000253673.5	-	3	247	c.147T>C	c.(145-147)taT>taC	p.Y49Y	EMR3_ENST00000443157.2_Silent_p.Y49Y|EMR3_ENST00000344373.4_Silent_p.Y49Y|EMR3_ENST00000599900.1_5'UTR	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	49	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ATCCAGAAGTATATCCATGGT	0.393																																																	0													94	85	88					19																	14774282		2203	4300	6503	SO:0001819	synonymous_variant	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.147T>C	19.37:g.14774282A>G				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.Y49	ENST00000253673.5	37	c.147	CCDS12315.1	19																																																																																			EMR3	-	smart_EG-like_dom	ENSG00000131355		0.393	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1		0	68	0	A	NM_032571		14774282	-1			no_errors	ENST00000253673	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	G	G	14774282	A	G	14774282	2	3	86	1	0	0	0	0	0	0	0	1	5122	456	16	4		4	EMR3	19	14774282	Silent	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	53403	14774282	44354701	216	23092											
EMR2	30817	genome.wustl.edu	37	chr19	14875291	14875291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcccattggaaaggttCttgctcaggcctctgaggac	10	9	11	11	0	3	1	1	1	2	0	3	3	3	3	2	4	3	2	2	4	2	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:14875291C>A	ENST00000315576.3	-	11	1489	c.1038G>T	c.(1036-1038)aaG>aaT	p.K346N	EMR2_ENST00000392967.2_Missense_Mutation_p.K346N|EMR2_ENST00000594294.1_Missense_Mutation_p.K297N|EMR2_ENST00000346057.1_Missense_Mutation_p.K297N|EMR2_ENST00000594076.1_Missense_Mutation_p.K253N|EMR2_ENST00000601345.1_Missense_Mutation_p.K346N|EMR2_ENST00000595839.1_Missense_Mutation_p.K204N|EMR2_ENST00000392964.3_Missense_Mutation_p.K85N|EMR2_ENST00000353876.1_Missense_Mutation_p.K253N|EMR2_ENST00000353005.1_Missense_Mutation_p.K204N|EMR2_ENST00000596991.2_Missense_Mutation_p.K346N|EMR2_ENST00000392965.3_Missense_Mutation_p.K346N	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	346					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGGAAAGGTTCTTGCTCAGGC	0.587																																																	0													67	62	64					19																	14875291		2203	4299	6502	SO:0001583	missense	0			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1038G>T	19.37:g.14875291C>A	ENSP00000319883:p.Lys346Asn		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.K346N	ENST00000315576.3	37	c.1038	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205995	0.39003	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.79554	-0.95;-1.1;-0.49;0.31;1.03;-1.28;1.33;-1.23	3.54	1.08	0.20341	.	.	.	.	.	T	0.78691	0.4323	M	0.62723	1.935	0.09310	N	1	P;B;P;P;B;B;B;P	0.39862	0.454;0.164;0.563;0.692;0.099;0.382;0.126;0.516	B;B;B;P;B;B;B;B	0.47528	0.15;0.149;0.168;0.549;0.124;0.091;0.058;0.328	T	0.64976	-0.6280	9	0.30078	T	0.28	.	3.9767	0.09478	0.2234:0.626:0.0:0.1506	.	346;253;346;204;297;346;346;346	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	N	346;346;297;253;204;346;85;297	ENSP00000319883:K346N;ENSP00000376694:K346N;ENSP00000263380:K297N;ENSP00000319454:K253N;ENSP00000319838:K204N;ENSP00000376692:K346N;ENSP00000376691:K85N;ENSP00000376689:K297N	ENSP00000319883:K346N	K	-	3	2	EMR2	14736291	0.001000	0.12720	0.001000	0.08648	0.043000	0.13939	0.206000	0.17375	0.174000	0.19809	0.508000	0.49915	AAG	EMR2	-	prints_GPCR_2_CD97	ENSG00000127507		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	-	0	61	0	C			14875291	-1	tier1	-	no_errors	ENST00000315576	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.002	A	A	14875291	C	A	14875291	3	1	86	1	0	0	0	0	1	0	0	0	5121	912	32	3	1477	3	EMR2	19	14875291	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	101009	14875291	44253692	217	23093											
OR10H5	284433	genome.wustl.edu	37	chr19	15905096	15905096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtggccatcatcccgCgcatgctggccgacctgctg	6	7	11	17	4	1	0	1	0	0	0	2	1	2	0	5	2	2	3	5	2	0	0	rs142693914		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:15905096C>T	ENST00000308940.8	+	1	336	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATCATCCCGCGCATGCTGGC	0.617													.|||	1	0.000199681	0	0	5008	,	,		21792	0		0.001	False		,,,				2504	0																0								C	CYS/ARG	0,4406		0,0,2203	122	100	108		238	2.3	0.8	19	dbSNP_134	108	1,8599		0,1,4299	no	missense	OR10H5	NM_001004466.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	80/316	15905096	1,13005	2203	4300	6503	SO:0001583	missense	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.238C>T	19.37:g.15905096C>T	ENSP00000310704:p.Arg80Cys		Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R80C	ENST00000308940.8	37	c.238	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	11.79	1.744090	0.30865	0.0	1.16E-4	ENSG00000172519	ENST00000308940	T	0.01685	4.69	3.47	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.158984	0.29266	N	0.012650	T	0.03695	0.0105	M	0.87328	2.875	0.09310	N	0.999999	B	0.25667	0.131	B	0.21151	0.033	T	0.17776	-1.0358	10	0.72032	D	0.01	.	7.7827	0.29074	0.4047:0.5953:0.0:0.0	.	80	Q8NGA6	O10H5_HUMAN	C	80	ENSP00000310704:R80C	ENSP00000310704:R80C	R	+	1	0	OR10H5	15766096	0.000000	0.05858	0.807000	0.32361	0.898000	0.52572	1.227000	0.32576	1.647000	0.50633	0.585000	0.79938	CGC	OR10H5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172519		0.617	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	-	0	73	0	C			15905096	1	tier1	rs142693914	no_errors	ENST00000308940	ensembl	human	known	74_37	missense	15.07	62	11	SNP	0.079	T	T	15905096	C	T	15905096	3	4	86	1	0	0	0	0	1	0	0	0	10948	768	27	1	240	1	OR10H5	19	15905096	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1029805	15905096	43223887	218	23094											
EPS15L1	58513	genome.wustl.edu	37	chr19	16506198	16506198	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgggtcagatttgaagggGtcttctgtctggaaaggatc	10	12	14	5	0	4	2	1	1	3	1	5	4	4	4	0	5	0	0	0	5	3	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:16506198G>C	ENST00000248070.6	-	17	2011	c.1872C>G	c.(1870-1872)gaC>gaG	p.D624E	EPS15L1_ENST00000535753.2_Missense_Mutation_p.D624E|EPS15L1_ENST00000455140.2_Missense_Mutation_p.D624E|EPS15L1_ENST00000594975.1_Missense_Mutation_p.D626E	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	624	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATTTGAAGGGGTCTTCTGTCT	0.398																																																	0													167	169	169					19																	16506198		2203	4300	6503	SO:0001583	missense	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.1872C>G	19.37:g.16506198G>C	ENSP00000248070:p.Asp624Glu		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.D624E	ENST00000248070.6	37	c.1872	CCDS32944.1	19	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571768	0.65765	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.35236	1.56;1.6;1.32	5.1	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	L	0.49778	1.585	0.54753	D	0.999986	D;D;P;D	0.60575	0.987;0.965;0.899;0.988	P;P;B;P	0.62740	0.746;0.632;0.342;0.906	T	0.36962	-0.9726	10	0.07990	T	0.79	.	6.7736	0.23607	0.1919:0.0:0.8081:0.0	.	626;624;624;624	A8K5P4;A2RRF3;Q9UBC2;G3V0H2	.;.;EP15R_HUMAN;.	E	624	ENSP00000393313:D624E;ENSP00000248070:D624E;ENSP00000440103:D624E	ENSP00000248070:D624E	D	-	3	2	EPS15L1	16367198	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.516000	0.45520	2.382000	0.81193	0.555000	0.69702	GAC	EPS15L1	-	NULL	ENSG00000127527		0.398	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	-	0	90	0	G	NM_021235		16506198	-1	tier1	-	no_errors	ENST00000455140	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	C	C	16506198	G	C	16506198	3	2	86	1	0	0	0	0	1	0	0	0	5209	1252	44	5	750	5	EPS15L1	19	16506198	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	601102	16506198	42622785	219	23095											
KIAA1683	80726	genome.wustl.edu	37	chr19	18368166	18368166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttaaagcccctccaggCggactggatggctgtggccg	7	8	14	12	2	1	0	0	0	1	0	2	3	2	2	4	5	1	1	4	5	2	1	rs138028745		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:18368166C>T	ENST00000600328.3	-	4	3560	c.3367G>A	c.(3367-3369)Gcc>Acc	p.A1123T	PDE4C_ENST00000596647.1_5'Flank|KIAA1683_ENST00000392413.4_Missense_Mutation_p.A1310T|KIAA1683_ENST00000600359.3_Missense_Mutation_p.A1077T|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	1123	IQ 5. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCCCTCCAGGCGGACTGGATG	0.652																																																	0								T	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	52	49	50		3928,3229,3367	0.8	0.1	19	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1683	NM_001145304.1,NM_001145305.1,NM_025249.3	58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	1310/1368,1077/1135,1123/1181	18368166	1,13005	2203	4300	6503	SO:0001583	missense	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.3367G>A	19.37:g.18368166C>T	ENSP00000470780:p.Ala1123Thr		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.A1310T	ENST00000600328.3	37	c.3928	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	c	2.706	-0.269853	0.05716	0.0	1.16E-4	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000392412;ENST00000358422;ENST00000411671	T;T;T	0.28666	1.6;1.6;1.6	4.63	0.771	0.18504	.	0.899723	0.09162	N	0.840021	T	0.28665	0.0710	M	0.61703	1.905	0.09310	N	1	B;P	0.43519	0.011;0.809	B;B	0.39419	0.01;0.299	T	0.16217	-1.0410	10	0.34782	T	0.22	-4.413	7.2035	0.25895	0.0:0.6519:0.1443:0.2038	.	1310;1123	E9PDE0;Q9H0B3	.;K1683_HUMAN	T	1310;1123;1077;387;508;737	ENSP00000376213:A1310T;ENSP00000352774:A1123T;ENSP00000404501:A1077T	ENSP00000351198:A508T	A	-	1	0	KIAA1683	18229166	0.003000	0.15002	0.086000	0.20670	0.001000	0.01503	-0.332000	0.07904	0.083000	0.17047	-1.295000	0.01343	GCC	KIAA1683	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000130518		0.652	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	-	0	41	0	C			18368166	-1	tier1	rs138028745	no_errors	ENST00000392413	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.006	T	T	18368166	C	T	18368166	3	4	86	1	0	0	0	0	1	0	0	0	8278	768	27	1	179	1	KIAA1683	19	18368166	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1861968	18368166	40760817	220	23096											
CEBPA	1050	genome.wustl.edu	37	chr19	33793280	33793280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggtggctgctcatcGggggccgcggctccgcctcg	2	8	16	15	5	2	0	1	0	1	0	5	0	3	0	3	5	2	4	3	5	0	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:33793280G>T	ENST00000498907.2	-	1	190	c.41C>A	c.(40-42)cCg>cAg	p.P14Q	CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	14					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P14fs*143(2)|p.P14R(1)|p.Y7_G130del(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GCTGCTCATCGGGGGCCGCGG	0.771			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																															Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	4	Deletion - Frameshift(2)|Substitution - Missense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(4)											1	1	1					19																	33793280		445	1001	1446	SO:0001583	missense	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.41C>A	19.37:g.33793280G>T	ENSP00000427514:p.Pro14Gln		A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.P14Q	ENST00000498907.2	37	c.41	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299478	0.40694	.	.	ENSG00000245848	ENST00000498907	T	0.34472	1.36	4.13	1.91	0.25777	.	.	.	.	.	T	0.27313	0.0670	L	0.43152	1.355	0.29100	N	0.881568	P	0.49862	0.929	B	0.40134	0.32	T	0.11203	-1.0597	9	0.27082	T	0.32	.	9.3556	0.38164	0.184:0.0:0.816:0.0	.	14	P49715	CEBPA_HUMAN	Q	14	ENSP00000427514:P14Q	ENSP00000427514:P14Q	P	-	2	0	CEBPA	38485120	1.000000	0.71417	0.995000	0.50966	0.518000	0.34316	2.064000	0.41432	0.199000	0.20427	-0.707000	0.03653	CCG	CEBPA	-	pirsf_CCAAT/enhancer-binding	ENSG00000245848		0.771	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	HGNC	protein_coding	OTTHUMT00000365012.1		0	12	0	G	NM_004364		33793280	-1			no_errors	ENST00000498907	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.995	T	T	33793280	G	T	33793280	3	4	86	1	0	0	0	0	1	0	0	0	3206	1116	39	2	1039	2	CEBPA	19	33793280	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	15425114	33793280	25335703	221	23097											
RAB4B	53916	genome.wustl.edu	37	chr19	41289869	41289869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggctgacggatgccCgcaccctggccagccccaac	6	5	11	19	2	0	1	0	1	0	0	0	2	0	2	6	3	4	2	6	3	1	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:41289869C>T	ENST00000594800.1	+	5	479	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	RAB4B_ENST00000357052.2_Missense_Mutation_p.R107C|RAB4B-EGLN2_ENST00000594136.1_Missense_Mutation_p.R107C|RAB4B-EGLN2_ENST00000601949.1_Intron|RAB4B_ENST00000602069.1_3'UTR|MIA-RAB4B_ENST00000600729.1_3'UTR			P61018	RAB4B_HUMAN	RAB4B, member RAS oncogene family	107					glucose import (GO:0046323)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	insulin-responsive compartment (GO:0032593)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	GTP binding (GO:0005525)			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GACGGATGCCCGCACCCTGGC	0.627																																																	0													43	40	41					19																	41289869		2203	4300	6503	SO:0001583	missense	0			AF165522	CCDS33030.1	19q13.2	2012-10-15			ENSG00000167578	ENSG00000167578		"RAB, member RAS oncogene"	9782	protein-coding gene	gene with protein product	"ras-related GTP-binding protein 4b", "small GTP binding protein RAB4B"	612945					Standard	NM_016154		Approved	FLJ78649, MGC52123	uc002opd.2	P61018		ENST00000594800.1:c.319C>T	19.37:g.41289869C>T	ENSP00000470246:p.Arg107Cys		P22750|Q7Z514|Q9HBR6	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R107C	ENST00000594800.1	37	c.319	CCDS33030.1	19	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181616	0.57800	.	.	ENSG00000167578	ENST00000357052	T	0.80566	-1.39	4.88	2.67	0.31697	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	D	0.87366	0.6159	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.964;0.992	D	0.86968	0.2096	10	0.87932	D	0	.	11.7554	0.51872	0.4622:0.5378:0.0:0.0	.	142;107	P61018-2;P61018	.;RAB4B_HUMAN	C	107	ENSP00000349560:R107C	ENSP00000349560:R107C	R	+	1	0	RAB4B	45981709	0.736000	0.28164	0.723000	0.30687	0.805000	0.45488	1.410000	0.34691	0.431000	0.26258	0.478000	0.44815	CGC	RAB4B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000167578		0.627	RAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4B	HGNC	protein_coding	OTTHUMT00000463168.1	-	0	93	0	C	NM_016154		41289869	1	tier1	-	no_errors	ENST00000357052	ensembl	human	known	74_37	missense	26.09	51	18	SNP	1.000	T	T	41289869	C	T	41289869	3	4	86	1	0	0	0	0	1	0	0	0	12992	652	23	1	337	1	RAB4B	19	41289869	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	7496589	41289869	17839114	222	23098											
MEGF8	1954	genome.wustl.edu	37	chr19	42855402	42855402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcatcagagcaccagccGcaaaggggacgcggcatgca	11	3	15	12	3	1	1	1	0	0	1	1	2	1	2	2	4	3	5	2	4	1	0	rs368247409		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:42855402G>A	ENST00000251268.6	+	16	2771	c.2771G>A	c.(2770-2772)cGc>cAc	p.R924H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R857H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	924	PSI 3.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGCACCAGCCGCAAAGGGGAC	0.667																																																	0								G	HIS/ARG	0,4362		0,0,2181	8	9	9		2570	5.1	1	19		9	2,8528		0,2,4263	no	missense	MEGF8	NM_001410.2	29	0,2,6444	AA,AG,GG		0.0234,0.0,0.0155	possibly-damaging	857/2779	42855402	2,12890	2181	4265	6446	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2771G>A	19.37:g.42855402G>A	ENSP00000251268:p.Arg924His		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R924H	ENST00000251268.6	37	c.2771		19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765172	0.90020	0.0	2.34E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.22336	1.96;1.97	5.08	5.08	0.68730	.	0.077206	0.51477	D	0.000081	T	0.20170	0.0485	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.60117	0.869;0.784	T	0.05084	-1.0907	10	0.41790	T	0.15	-35.1848	9.5757	0.39457	0.0952:0.0:0.9048:0.0	.	924;857	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	857;924	ENSP00000334219:R857H;ENSP00000251268:R924H	ENSP00000251268:R924H	R	+	2	0	MEGF8	47547242	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.039000	0.70972	2.362000	0.80069	0.655000	0.94253	CGC	MEGF8	-	superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000105429		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	87	0	G	NM_001410		42855402	1			no_errors	ENST00000251268	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	42855402	G	A	42855402	3	1	86	1	0	0	0	0	1	0	0	0	9501	1087	38	1	2628	1	MEGF8	19	42855402	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	1565533	42855402	16273581	223	23099											
GRIN2D	2906	genome.wustl.edu	37	chr19	48917815	48917815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccgagactccgtcccctgCcggagccagctcaaccgaac	9	5	9	18	4	1	1	1	0	0	1	4	4	4	2	7	1	5	1	7	1	2	0			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:48917815C>T	ENST00000263269.3	+	5	1474	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	462					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGTCCCCTGCCGGAGCCAGC	0.657																																																	0													34	29	30					19																	48917815		2163	4257	6420	SO:0001819	synonymous_variant	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1386C>T	19.37:g.48917815C>T				Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.C462	ENST00000263269.3	37	c.1386	CCDS12719.1	19																																																																																			GRIN2D	-	smart_Iontro_glu_rcpt	ENSG00000105464		0.657	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1		0	84	0	C			48917815	1			no_errors	ENST00000263269	ensembl	human	known	74_37	silent	9.52	38	4	SNP	1.000	T	T	48917815	C	T	48917815	2	4	86	1	0	0	0	0	0	0	0	1	6809	747	26	3		3	GRIN2D	19	48917815	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	6062413	48917815	10211168	224	23100											
PPP1R15A	23645	genome.wustl.edu	37	chr19	49379107	49379107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccctcacccagaccttGccttcctcctctgtcccttc	3	12	4	22	0	2	1	1	0	1	1	6	1	5	1	8	0	2	0	8	0	0	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:49379107G>T	ENST00000200453.5	+	3	2171	c.1902G>T	c.(1900-1902)ttG>ttT	p.L634F		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	634					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCCAGACCTTGCCTTCCTCCT	0.682																																																	0													150	152	151					19																	49379107		2203	4300	6503	SO:0001583	missense	0			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14375	protein-coding gene	gene with protein product	"growth arrest and DNA-damage-inducible 34"	611048	"protein phosphatase 1, regulatory (inhibitor) subunit 15A"			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1902G>T	19.37:g.49379107G>T	ENSP00000200453:p.Leu634Phe		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15A/B_C	p.L634F	ENST00000200453.5	37	c.1902	CCDS12738.1	19	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090359	0.36855	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.06768	3.26	4.5	-1.85	0.07784	.	0.589252	0.12910	N	0.429007	T	0.05135	0.0137	N	0.14661	0.345	0.09310	N	1	P	0.50943	0.94	B	0.44133	0.442	T	0.40646	-0.9552	10	0.38643	T	0.18	2.9866	8.6415	0.33981	0.403:0.0:0.597:0.0	.	634	O75807	PR15A_HUMAN	F	634;474;592	ENSP00000200453:L634F	ENSP00000200453:L634F	L	+	3	2	PPP1R15A	54070919	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.208000	0.17415	-0.307000	0.08804	-0.136000	0.14681	TTG	PPP1R15A	-	NULL	ENSG00000087074		0.682	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15A	HGNC	protein_coding	OTTHUMT00000466226.1	-	0	48	0	G	NM_014330		49379107	1	tier1	-	no_errors	ENST00000200453	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.000	T	T	49379107	G	T	49379107	3	4	86	1	0	0	0	0	1	0	0	0	12405	1310	46	3	1908	3	PPP1R15A	19	49379107	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	461292	49379107	9749876	225	23101											
ASPDH	554235	genome.wustl.edu	37	chr19	51016575	51016575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcagggaagggggcaCgctccctgccattcgtcctg	6	7	15	13	2	0	0	0	0	0	0	3	2	2	1	3	3	3	4	3	3	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr19:51016575C>T	ENST00000389208.4	-	2	212	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ASPDH_ENST00000597030.1_Intron|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank|ASPDH_ENST00000376916.3_Intron|JOSD2_ENST00000601423.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	51					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						GAAGGGGGCACGCTCCCTGCC	0.597																																																	0													49	45	46					19																	51016575		692	1591	2283	SO:0001583	missense	0				CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.151G>A	19.37:g.51016575C>T	ENSP00000373860:p.Val51Met		Q6NZ37	Missense_Mutation	SNP	pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd	p.V51M	ENST00000389208.4	37	c.151	CCDS46153.1	19	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920950	0.52653	.	.	ENSG00000204653	ENST00000389208	T	0.50001	0.76	3.44	0.644	0.17776	Aspartate/homoserine dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.595355	0.13690	U	0.369591	T	0.33527	0.0866	L	0.47190	1.495	0.26776	N	0.969695	P	0.47962	0.903	B	0.38562	0.276	T	0.28776	-1.0033	10	0.72032	D	0.01	-1.0976	4.3433	0.11120	0.0:0.5345:0.3167:0.1488	.	51	A6ND91	ASPD_HUMAN	M	51	ENSP00000373860:V51M	ENSP00000373860:V51M	V	-	1	0	ASPDH	55708387	0.922000	0.31269	0.845000	0.33349	0.925000	0.55904	1.867000	0.39499	0.544000	0.28883	0.561000	0.74099	GTG	ASPDH	-	pfam_Asp/hSer_DH_NAD-bd	ENSG00000204653		0.597	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPDH	HGNC	protein_coding	OTTHUMT00000464861.1	-	0	67	0	C	NM_001024656		51016575	-1	tier1	-	no_errors	ENST00000389208	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.764	T	T	51016575	C	T	51016575	3	4	86	1	0	0	0	0	1	0	0	0	1052	536	19	1	724	1	ASPDH	19	51016575	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1637468	51016575	8112408	226	23102											
SIRPA	140885	genome.wustl.edu	37	chr20	1896101	1896101	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgagctgtctgtgcgcGgtgagtacagcgtgggcctc	5	9	16	11	3	1	2	0	2	1	0	2	2	1	2	1	2	4	3	1	2	1	1	rs561231326		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr20:1896101G>A	ENST00000358771.4	+	2	588	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	SIRPA_ENST00000356025.3_Splice_Site_p.A146T|SIRPA_ENST00000400068.3_Splice_Site_p.A146T	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	146					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GTCTGTGCGCGGTGAGTACAG	0.542													G|||	1	0.000199681	0	0	5008	,	,		17252	0		0.001	False		,,,				2504	0				GBM(155;1668 1920 5945 42733 48121)												0													99	89	92					20																	1896101		2203	4299	6502	SO:0001630	splice_region_variant	0			D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"Signal-regulatory proteins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C1-set domain containing"	9662	protein-coding gene	gene with protein product		602461	"protein tyrosine phosphatase, non-receptor type substrate 1"	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.436+1G>A	20.37:g.1896101G>A			A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom	p.A146T	ENST00000358771.4	37	c.436	CCDS13022.1	20	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125943	0.56721	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02301	4.35;4.35;4.35	5.11	5.11	0.69529	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	T	0.12135	0.0295	M	0.80616	2.505	0.80722	D	1	D;D;P	0.89917	0.973;1.0;0.938	B;D;B	0.68039	0.376;0.955;0.331	T	0.00029	-1.2294	10	0.72032	D	0.01	.	13.9546	0.64140	0.0:0.0:1.0:0.0	.	126;146;146	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	T	146	ENSP00000382941:A146T;ENSP00000348307:A146T;ENSP00000351621:A146T	ENSP00000348307:A146T	A	+	1	0	SIRPA	1844101	0.999000	0.42202	0.962000	0.40283	0.038000	0.13279	3.746000	0.55127	2.682000	0.91365	0.555000	0.69702	GCC	SIRPA	-	NULL	ENSG00000198053		0.542	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SIRPA	HGNC	protein_coding	OTTHUMT00000077568.2	-	0	55	0	G	NM_080792	Missense_Mutation	1896101	1	tier1	-	no_errors	ENST00000400068	ensembl	human	known	74_37	missense	15.91	37	7	SNP	0.976	A	A	1896101	G	A	1896101	5	1	86	1	0	0	0	0	0	0	1	0	14377	1130	39	1	442	1	SIRPA	20	1896101	Splice_Site	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		1896101	61129419	227	23103											
PROKR2	128674	genome.wustl.edu	37	chr20	5294744	5294744	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccaggttggcaatgAgcagattggtgaggttgcgc	9	9	17	6	1	0	4	0	2	0	2	0	4	0	4	1	5	2	4	1	5	1	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr20:5294744A>T	ENST00000217270.3	-	1	271	c.272T>A	c.(271-273)cTc>cAc	p.L91H	PROKR2_ENST00000546004.1_Missense_Mutation_p.L91H	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	91					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GTTGGCAATGAGCAGATTGGT	0.562										HNSCC(71;0.22)																																							0													191	148	162					20																	5294744		2203	4300	6503	SO:0001583	missense	0			AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"GPCR / Class A : Prokineticin receptors"	15836	protein-coding gene	gene with protein product		607123	"G protein-coupled receptor 73-like 1", "Kallmann syndrome 3 (autosomal dominant)"	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.272T>A	20.37:g.5294744A>T	ENSP00000217270:p.Leu91His		A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L91H	ENST00000217270.3	37	c.272	CCDS13089.1	20	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987515	0.74589	.	.	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.75260	-0.92;-0.92	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	H	0.94264	3.515	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.92109	0.5694	10	0.87932	D	0	.	13.5109	0.61511	1.0:0.0:0.0:0.0	.	91	Q8NFJ6	PKR2_HUMAN	H	91	ENSP00000440790:L91H;ENSP00000217270:L91H	ENSP00000217270:L91H	L	-	2	0	PROKR2	5242744	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.223000	0.78033	2.130000	0.65690	0.533000	0.62120	CTC	PROKR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000101292		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR2	HGNC	protein_coding	OTTHUMT00000077854.1	-	0	79	0	A	NM_144773		5294744	-1	tier1	-	no_errors	ENST00000217270	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	5294744	A	T	5294744	3	4	86	1	0	0	0	0	1	0	0	0	12595	304	11	5	889	5	PROKR2	20	5294744	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	3398643	5294744	57730776	228	23104											
SEC23B	10483	genome.wustl.edu	37	chr20	18511355	18511355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgggagattctttcaacActtctctcttcaagcagaca	12	13	6	10	0	5	2	2	0	3	2	6	3	5	2	0	1	2	1	0	1	3	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr20:18511355A>T	ENST00000336714.3	+	10	1573	c.1141A>T	c.(1141-1143)Act>Tct	p.T381S	SEC23B_ENST00000377465.1_Missense_Mutation_p.T381S|SEC23B_ENST00000377475.3_Missense_Mutation_p.T381S|SEC23B_ENST00000262544.2_Missense_Mutation_p.T381S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	381					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTCTTTCAACACTTCTCTCTT	0.373																																																	0													97	96	96					20																	18511355		2202	4300	6502	SO:0001583	missense	0			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"Sec23 (S. cerevisiae) homolog B", "congenital dyserythropoietic anemia, type II"	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1141A>T	20.37:g.18511355A>T	ENSP00000338844:p.Thr381Ser		D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.T381S	ENST00000336714.3	37	c.1141	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864152	0.32977	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.3	5.3	0.74995	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.58061	0.2096	N	0.10733	0.035	0.80722	D	1	B;B	0.19583	0.037;0.002	B;B	0.21360	0.034;0.01	T	0.56044	-0.8044	10	0.09843	T	0.71	-24.3237	14.5888	0.68347	1.0:0.0:0.0:0.0	.	363;381	B4DJW8;Q15437	.;SC23B_HUMAN	S	381	ENSP00000338844:T381S;ENSP00000262544:T381S;ENSP00000366695:T381S;ENSP00000366685:T381S	ENSP00000262544:T381S	T	+	1	0	SEC23B	18459355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.235000	0.73313	0.533000	0.62120	ACT	SEC23B	-	pfam_Sec23/24_trunk_dom	ENSG00000101310		0.373	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5		0	76	0	A			18511355	1			no_errors	ENST00000262544	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	18511355	A	T	18511355	3	4	86	1	0	0	0	0	1	0	0	0	14037	159	6	5	1175	5	SEC23B	20	18511355	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	13216611	18511355	44514165	229	23105											
FOXS1	2307	genome.wustl.edu	37	chr20	30432416	30432416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccccaatgggtagccGgagcctccctggacagggaa	9	5	14	13	1	1	0	1	0	0	0	2	3	2	3	5	4	3	1	5	4	3	1	rs139927827	byFrequency	TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr20:30432416G>A	ENST00000375978.3	-	1	1004	c.930C>T	c.(928-930)tcC>tcT	p.S310S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	310					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						ATGGGTAGCCGGAGCCTCCCT	0.647													G|||	2	0.000399361	0.0015	0	5008	,	,		15086	0		0	False		,,,				2504	0																0								G		2,4404	4.2+/-10.8	0,2,2201	38	39	39		930	-7.6	0	20	dbSNP_134	39	0,8600		0,0,4300	no	coding-synonymous	FOXS1	NM_004118.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		310/331	30432416	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"Forkhead boxes"	3735	protein-coding gene	gene with protein product		602939	"forkhead (Drosophila)-like 18", "forkhead-like 18 (Drosophila)"	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.930C>T	20.37:g.30432416G>A			Q96D28	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S310	ENST00000375978.3	37	c.930	CCDS13192.1	20																																																																																			FOXS1	-	NULL	ENSG00000179772		0.647	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXS1	HGNC	protein_coding	OTTHUMT00000078560.2	-	0	81	0	G	NM_004118		30432416	-1	tier1	rs139927827	no_errors	ENST00000375978	ensembl	human	known	74_37	silent	31.58	65	30	SNP	0.000	A	A	30432416	G	A	30432416	2	1	86	1	0	0	0	0	0	0	0	1	6059	1103	39	1		1	FOXS1	20	30432416	Silent	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	11921061	30432416	32593104	230	23106											
EPB41L1	2036	genome.wustl.edu	37	chr20	34778674	34778674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgcacccttctttgagCgttcttccagcaaacggtac	7	11	9	14	2	2	1	0	1	2	0	3	1	3	1	3	2	5	4	3	2	2	5	rs138153077		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr20:34778674C>T	ENST00000338074.2	+	11	1416	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	EPB41L1_ENST00000202028.5_Missense_Mutation_p.R357C|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R357C|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R388C|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R322C|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R419C	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	419					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTTCTTTGAGCGTTCTTCCAG	0.612																																																	0													59	52	55					20																	34778674		2203	4300	6503	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1255C>T	20.37:g.34778674C>T	ENSP00000337168:p.Arg419Cys		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.R419C	ENST00000338074.2	37	c.1255	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142456	0.77888	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07;-4.07	5.48	4.54	0.55810	FERM adjacent (FA) (1);	.	.	.	.	D	0.98579	0.9525	H	0.95402	3.665	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;1.0;1.0;1.0;0.018;1.0	D;D;D;D;B;D	0.97110	1.0;1.0;1.0;0.998;0.011;0.998	D	0.99253	1.0888	9	0.87932	D	0	.	13.1124	0.59281	0.0:0.922:0.0:0.078	.	419;419;388;322;322;357	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	C	357;322;419;322;357;388;419;419	ENSP00000202028:R357C;ENSP00000363061:R322C;ENSP00000399214:R357C;ENSP00000363057:R388C;ENSP00000337168:R419C;ENSP00000363052:R419C	ENSP00000202028:R357C	R	+	1	0	EPB41L1	34242088	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.826000	0.62715	1.302000	0.44855	0.561000	0.74099	CGT	EPB41L1	-	pfam_FERM-adjacent,pirsf_Band_41_protein	ENSG00000088367		0.612	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	-	0	37	0	C	NM_012156		34778674	1	tier1	-	no_errors	ENST00000338074	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	T	T	34778674	C	T	34778674	3	4	86	1	0	0	0	0	1	0	0	0	5168	768	27	1	1293	1	EPB41L1	20	34778674	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	4346258	34778674	28246846	231	23107											
GTSF1L	149699	genome.wustl.edu	37	chr20	42355079	42355079	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgtcatcgttctgctCtgaactaggaggactgactt	7	13	12	9	1	3	2	1	2	2	0	4	4	3	4	0	3	2	2	0	3	2	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr20:42355079C>A	ENST00000373003.1	-	1	559	c.256G>T	c.(256-258)Gag>Tag	p.E86*	GTSF1L_ENST00000373005.2_Nonsense_Mutation_p.E86*	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	86							metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGTTCTGCTCTGAACTAGGA	0.517																																																	0													138	116	124					20																	42355079		2203	4300	6503	SO:0001587	stop_gained	0			AK058060	CCDS13323.1, CCDS33471.1	20q13.12	2007-11-27	2007-11-27	2007-11-27	ENSG00000124196	ENSG00000124196			16198	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 65", "family with sequence similarity 112, member A"	C20orf65, FAM112A			Standard	NM_176791		Approved	dJ1028D15.4	uc002xld.3	Q9H1H1	OTTHUMG00000032510	ENST00000373003.1:c.256G>T	20.37:g.42355079C>A	ENSP00000362094:p.Glu86*		Q5JWH5	Nonsense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E86*	ENST00000373003.1	37	c.256	CCDS13323.1	20	.	.	.	.	.	.	.	.	.	.	C	32	5.167666	0.94768	.	.	ENSG00000124196	ENST00000373003;ENST00000373005	.	.	.	3.95	-1.56	0.08532	.	2.071930	0.03425	U	0.206910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-19.5352	4.2114	0.10514	0.0:0.3749:0.3276:0.2975	.	.	.	.	X	86	.	ENSP00000362094:E86X	E	-	1	0	GTSF1L	41788493	0.012000	0.17670	0.001000	0.08648	0.410000	0.31052	-0.080000	0.11339	-0.233000	0.09797	0.430000	0.28490	GAG	GTSF1L	-	NULL	ENSG00000124196		0.517	GTSF1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTSF1L	HGNC	protein_coding	OTTHUMT00000079313.1	-	0	46	0	C	NM_176791		42355079	-1	tier1	-	no_errors	ENST00000373003	ensembl	human	known	74_37	nonsense	30.00	49	21	SNP	0.001	A	A	42355079	C	A	42355079	4	1	86	1	0	0	0	0	0	1	0	0	6914	922	32	3	194	3	GTSF1L	20	42355079	Nonsense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	7576405	42355079	20670441	232	23108											
POTEH	23784	genome.wustl.edu	37	chr22	16279279	16279279	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttttgctcatgtacaccaAgtaacagtggtgtgaggcca	10	12	11	8	0	1	1	1	1	0	0	1	1	1	1	2	2	3	4	2	2	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr22:16279279A>C	ENST00000343518.6	-	4	995	c.944T>G	c.(943-945)cTt>cGt	p.L315R	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	315										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATGTACACCAAGTAACAGTGG	0.318																																																	0																																										SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.944T>G	22.37:g.16279279A>C	ENSP00000340610:p.Leu315Arg		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L315R	ENST00000343518.6	37	c.944	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	11.79	1.742389	0.30865	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.56275	0.47	1.38	1.38	0.22167	Ankyrin repeat-containing domain (3);	0.279276	0.18784	U	0.131260	T	0.60090	0.2242	L	0.54965	1.715	0.09310	N	0.999992	D;D	0.89917	0.997;1.0	D;D	0.91635	0.989;0.999	T	0.42344	-0.9457	10	0.45353	T	0.12	.	4.9438	0.13978	1.0:0.0:0.0:0.0	.	315;278	Q6S545;A6NKF6	POTEH_HUMAN;.	R	278;315	ENSP00000340610:L315R	ENSP00000340610:L315R	L	-	2	0	POTEH	14659279	0.737000	0.28175	0.294000	0.24946	0.068000	0.16541	3.904000	0.56325	0.890000	0.36211	0.147000	0.16070	CTT	POTEH	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198062		0.318	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0	763	0	A	NM_001136213		16279279	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	6.39	601	41	SNP	0.103	C	C	16279279	A	C	16279279	3	2	86	1	0	0	0	0	1	0	0	0	12306	72	3	4	721	4	POTEH	22	16279279	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09		16279279	35025287	233	23109											
ADRBK2	157	genome.wustl.edu	37	chr22	26070486	26070486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgcaggaaagcagacaCtggaaaaatgtaagctttca	15	9	11	6	0	1	1	1	0	0	1	1	3	1	3	0	3	3	5	0	3	4	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr22:26070486C>T	ENST00000324198.6	+	8	830	c.638C>T	c.(637-639)aCt>aTt	p.T213I		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AAAGCAGACACTGGAAAAATG	0.363																																																	0													138	133	135					22																	26070486		2203	4300	6503	SO:0001583	missense	0			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"Pleckstrin homology (PH) domain containing"	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.638C>T	22.37:g.26070486C>T	ENSP00000317578:p.Thr213Ile		Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.T213I	ENST00000324198.6	37	c.638	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410014	0.83340	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.29917	1.55	5.28	5.28	0.74379	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115517	0.56097	D	0.000021	T	0.62841	0.2461	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.69525	-0.5122	10	0.87932	D	0	-18.8505	16.4538	0.84007	0.0:1.0:0.0:0.0	.	213;213	A8K869;P35626	.;ARBK2_HUMAN	I	213	ENSP00000317578:T213I	ENSP00000317578:T213I	T	+	2	0	ADRBK2	24400486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.882000	0.75589	2.744000	0.94065	0.655000	0.94253	ACT	ADRBK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000100077		0.363	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4	-	0	91	0	C	NM_005160		26070486	1	tier1	-	no_errors	ENST00000324198	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	26070486	C	T	26070486	3	4	86	1	0	0	0	0	1	0	0	0	344	565	20	3	668	3	ADRBK2	22	26070486	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	9791207	26070486	25234080	234	23110											
CHEK2	11200	genome.wustl.edu	37	chr22	29130401	29130401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcttaccaagattggcAaatccatcctgaagggccca	12	8	10	11	0	1	2	0	1	1	1	3	2	3	2	4	3	1	1	4	3	4	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr22:29130401A>T	ENST00000405598.1	-	3	500	c.309T>A	c.(307-309)ttT>ttA	p.F103L	CHEK2_ENST00000382578.1_Missense_Mutation_p.F103L|CHEK2_ENST00000404276.1_Missense_Mutation_p.F103L|CHEK2_ENST00000382566.1_Missense_Mutation_p.F103L|CHEK2_ENST00000348295.3_Missense_Mutation_p.F103L|CHEK2_ENST00000382565.1_Missense_Mutation_p.F103L|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.F103L|CHEK2_ENST00000328354.6_Missense_Mutation_p.F103L|CHEK2_ENST00000382580.2_Missense_Mutation_p.F103L|CHEK2_ENST00000402731.1_Missense_Mutation_p.F103L			O96017	CHK2_HUMAN	checkpoint kinase 2	103					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CAAGATTGGCAAATCCATCCT	0.458			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	0													41	45	43					22																	29130401		2203	4300	6503	SO:0001583	missense	0			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"CHK2 (checkpoint, S.pombe) homolog", "CHK2 checkpoint homolog (S. pombe)"	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.309T>A	22.37:g.29130401A>T	ENSP00000386087:p.Phe103Leu		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom	p.F103L	ENST00000405598.1	37	c.309	CCDS13843.1	22	.	.	.	.	.	.	.	.	.	.	A	18.98	3.738409	0.69304	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	D;T;T;D;D;D;D;T;T;D;D;T;D	0.89746	-2.56;-0.15;-1.02;-2.56;-2.56;-2.56;-2.56;2.51;-0.15;-2.56;-2.56;2.51;-2.56	5.32	4.31	0.51392	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.043608	0.85682	D	0.000000	D	0.91878	0.7429	M	0.61703	1.905	0.49582	D	0.999803	P;D;P;P;B;B	0.67145	0.783;0.996;0.818;0.859;0.1;0.082	B;D;B;P;B;B	0.73380	0.335;0.98;0.255;0.487;0.113;0.122	D	0.90626	0.4563	10	0.42905	T	0.14	-7.6284	9.1006	0.36667	0.17:0.0:0.83:0.0	.	103;103;103;103;103;103	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	L	103;103;103;103;103;103;103;103;103;103;103;103;113	ENSP00000329012:F103L;ENSP00000372021:F103L;ENSP00000372006:F103L;ENSP00000372007:F103L;ENSP00000329178:F103L;ENSP00000385747:F103L;ENSP00000386087:F103L;ENSP00000372023:F103L;ENSP00000384919:F103L;ENSP00000384835:F103L;ENSP00000397478:F103L;ENSP00000408065:F103L;ENSP00000381099:F113L	ENSP00000329178:F103L	F	-	3	2	CHEK2	27460401	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.678000	0.54627	1.350000	0.45770	-0.242000	0.12053	TTT	CHEK2	-	superfamily_SMAD_FHA_domain	ENSG00000183765		0.458	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	-	0	55	0	A	NM_001005735		29130401	-1	tier1	-	no_errors	ENST00000382580	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	29130401	A	T	29130401	3	4	86	1	0	0	0	0	1	0	0	0	3342	127	5	5	1511	5	CHEK2	22	29130401	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	3059915	29130401	22174165	235	23111											
PDXP	57026	genome.wustl.edu	37	chr22	38061636	38061636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgggcaagcccagccccTacatgttcgagtgcatcacg	8	8	12	13	2	1	0	1	0	0	0	2	1	1	0	3	2	4	3	3	2	2	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr22:38061636T>C	ENST00000215904.6	+	2	705	c.649T>C	c.(649-651)Tac>Cac	p.Y217H	PDXP_ENST00000403251.1_5'UTR|SH3BP1_ENST00000599616.1_Missense_Mutation_p.Y526H	NM_020315.4	NP_064711.1	Q96GD0	PLPP_HUMAN	pyridoxal (pyridoxine, vitamin B6) phosphatase	217					actin rod assembly (GO:0031247)|cellular response to ATP (GO:0071318)|positive regulation of actin filament depolymerization (GO:0030836)|protein dephosphorylation (GO:0006470)|pyridoxal phosphate catabolic process (GO:0032361)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heat shock protein binding (GO:0031072)|magnesium ion binding (GO:0000287)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|pyridoxal phosphatase activity (GO:0033883)			kidney(1)|large_intestine(1)|lung(5)|ovary(2)	9	Melanoma(58;0.0574)					GCCCAGCCCCTACATGTTCGA	0.652																																																	0													85	73	77					22																	38061636		2203	4300	6503	SO:0001583	missense	0			BC064922	CCDS13953.1	22q12.3	2005-08-16			ENSG00000241360	ENSG00000241360			30259	protein-coding gene	gene with protein product		609246				14522954	Standard	NM_020315		Approved	dJ37E16.5, FLJ32703		Q96GD0	OTTHUMG00000044618	ENST00000215904.6:c.649T>C	22.37:g.38061636T>C	ENSP00000215904:p.Tyr217His		Q9UGY2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,superfamily_HAD-like_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.Y526H	ENST00000215904.6	37	c.1576	CCDS13953.1	22	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718542	0.89205	.	.	ENSG00000241360	ENST00000215904	T	0.29397	1.57	5.58	5.58	0.84498	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	.	.	.	.	T	0.43122	0.1233	L	0.31845	0.965	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.87578	0.987;0.998	T	0.15838	-1.0423	9	0.17369	T	0.5	-15.8293	15.7563	0.78030	0.0:0.0:0.0:1.0	.	217;526	Q96GD0;Q6ZT62	PLPP_HUMAN;.	H	217	ENSP00000215904:Y217H	ENSP00000215904:Y217H	Y	+	1	0	PDXP	36391582	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.955000	0.87856	2.121000	0.65114	0.459000	0.35465	TAC	SH3BP1	-	superfamily_HAD-like_dom	ENSG00000100092		0.652	PDXP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000104105.2	-	0	46	0	T	NM_020315		38061636	1	tier1	-	no_errors	ENST00000599616	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	C	C	38061636	T	C	38061636	3	2	86	1	0	0	0	0	1	0	0	0	11737	1522	53	4	655	4	PDXP	22	38061636	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	8931235	38061636	13242930	236	23112											
APOBEC3G	60489	genome.wustl.edu	37	chr22	39477202	39477202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaaaagagacggtccgCgtgccaccatgaagatcatg	13	6	12	10	3	2	4	2	1	0	3	3	5	3	4	3	1	1	0	3	1	3	0	rs200526446		TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr22:39477202C>T	ENST00000407997.3	+	3	793	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R146C	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	146					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					AGACGGTCCGCGTGCCACCAT	0.537																																																	0													81	81	81					22																	39477202		2203	4300	6503	SO:0001583	missense	0			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"Apolipoprotein B mRNA editing enzymes"	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.436C>T	22.37:g.39477202C>T	ENSP00000385057:p.Arg146Cys		B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R146C	ENST00000407997.3	37	c.436	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	13.50	2.255916	0.39896	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.64438	-0.1;-0.1	1.83	-2.85	0.05734	APOBEC-like, C-terminal (1);	.	.	.	.	T	0.66781	0.2824	L	0.55481	1.735	0.09310	N	1	D	0.69078	0.997	P	0.58970	0.849	T	0.62215	-0.6901	9	0.87932	D	0	.	9.7829	0.40660	0.0:0.6768:0.3232:0.0	.	146	Q9HC16	ABC3G_HUMAN	C	146	ENSP00000413376:R146C;ENSP00000385057:R146C	ENSP00000385057:R146C	R	+	1	0	APOBEC3G	37807148	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.329000	0.19698	-0.520000	0.06435	-0.502000	0.04539	CGT	APOBEC3G	-	pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	ENSG00000239713		0.537	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	-	0	70	0	C	NM_021822		39477202	1	tier1	rs200526446	no_errors	ENST00000407997	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.000	T	T	39477202	C	T	39477202	3	4	86	1	0	0	0	0	1	0	0	0	794	768	27	1	446	1	APOBEC3G	22	39477202	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	1415566	39477202	11827364	237	23113											
PKDREJ	10343	genome.wustl.edu	37	chr22	46656747	46656747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggatctttaactacttGgtgaggagaagtcattttaa	14	13	10	4	0	2	2	1	1	1	1	2	5	2	3	0	3	2	0	0	3	5	6			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chr22:46656747G>T	ENST00000253255.5	-	1	2472	c.2473C>A	c.(2473-2475)Caa>Aaa	p.Q825K		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	825	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTAACTACTTGGTGAGGAGAA	0.358																																																	0													62	66	64					22																	46656747		2203	4300	6503	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2473C>A	22.37:g.46656747G>T	ENSP00000253255:p.Gln825Lys		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.Q825K	ENST00000253255.5	37	c.2473	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	G	2.416	-0.334296	0.05278	.	.	ENSG00000130943	ENST00000253255	T	0.34859	1.34	5.18	-9.94	0.00449	Egg jelly receptor, REJ-like (1);	2.023630	0.02215	N	0.063540	T	0.16514	0.0397	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.07849	-1.0751	10	0.23302	T	0.38	0.2856	3.8952	0.09136	0.0885:0.176:0.4038:0.3317	.	825	Q9NTG1	PKDRE_HUMAN	K	825	ENSP00000253255:Q825K	ENSP00000253255:Q825K	Q	-	1	0	PKDREJ	45035411	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.037000	0.01420	-1.948000	0.01033	-0.397000	0.06425	CAA	PKDREJ	-	pfscan_REJ-like	ENSG00000130943		0.358	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1		0	60	0	G	NM_006071		46656747	-1			no_errors	ENST00000253255	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.000	T	T	46656747	G	T	46656747	3	4	86	1	0	0	0	0	1	0	0	0	12009	1357	47	3	4292	3	PKDREJ	22	46656747	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	7179545	46656747	4647819	238	23114											
HDAC6	10013	genome.wustl.edu	37	chrX	48676794	48676794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctagctgcctggcatcGcctggtgcttcccattgcct	4	12	9	16	1	0	0	0	0	0	0	2	0	1	0	5	2	5	3	5	2	2	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:48676794G>A	ENST00000334136.5	+	22	2340	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	HDAC6_ENST00000444343.2_Missense_Mutation_p.R735H|HDAC6_ENST00000376619.2_Missense_Mutation_p.R721H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	721	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.R721H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCCTGGCATCGCCTGGTGCTT	0.632																																					Pancreas(112;205 1675 2305 8976 15959)												1	Substitution - Missense(1)	endometrium(1)											48	37	41					X																	48676794		2203	4300	6503	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 90"	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2162G>A	X.37:g.48676794G>A	ENSP00000334061:p.Arg721His		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.R735H	ENST00000334136.5	37	c.2204	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	9.153	1.016872	0.19355	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.70516	-0.49;-0.49;-0.49	5.35	4.29	0.51040	Histone deacetylase domain (2);	0.251907	0.38605	N	0.001629	T	0.48607	0.1509	N	0.13235	0.315	0.80722	D	1	P;P;P	0.45240	0.854;0.784;0.854	B;B;B	0.37508	0.227;0.252;0.227	T	0.48387	-0.9040	10	0.24483	T	0.36	-15.8975	11.0109	0.47663	0.1114:0.0:0.8886:0.0	.	711;369;721	B4DZN1;B3KVK5;Q9UBN7	.;.;HDAC6_HUMAN	H	735;721;721;721	ENSP00000398566:R735H;ENSP00000334061:R721H;ENSP00000365804:R721H	ENSP00000334061:R721H	R	+	2	0	HDAC6	48561738	0.992000	0.36948	0.941000	0.38009	0.985000	0.73830	2.479000	0.45197	2.229000	0.72834	0.600000	0.82982	CGC	HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.632	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	-	0	18	0	G	NM_006044		48676794	1	tier1	-	no_errors	ENST00000444343	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.809	A	A	48676794	G	A	48676794	3	1	86	1	0	0	0	0	1	0	0	0	7038	1087	38	1	2244	1	HDAC6	23	48676794	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09		48676794	106593766	239	23115											
IQSEC2	23096	genome.wustl.edu	37	chrX	53279888	53279888	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgggggctgcagccatCagcctcatacaccagctggc	8	6	11	16	0	2	0	2	0	0	0	2	0	2	0	4	3	5	3	4	3	1	1			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:53279888C>A	ENST00000375368.5	-	4	2040	c.1840G>T	c.(1840-1842)Gat>Tat	p.D614Y	IQSEC2_ENST00000375365.2_Missense_Mutation_p.D419Y|IQSEC2_ENST00000396435.3_Missense_Mutation_p.D624Y			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	614	Pro-rich.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTGCAGCCATCAGCCTCATAC	0.662																																																	0													17	19	18					X																	53279888		2197	4290	6487	SO:0001583	missense	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"mental retardation, X-linked 1 (non-dysmorphic)"	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1840G>T	X.37:g.53279888C>A	ENSP00000364517:p.Asp614Tyr		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.D624Y	ENST00000375368.5	37	c.1870		X	.	.	.	.	.	.	.	.	.	.	c	18.27	3.585935	0.66105	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.12984	2.63;2.63;2.66	5.37	5.37	0.77165	.	34.085800	0.01504	U	0.017612	T	0.25717	0.0626	N	0.24115	0.695	0.38296	D	0.942837	D;P	0.59767	0.986;0.936	P;P	0.54100	0.742;0.568	T	0.04976	-1.0914	10	0.62326	D	0.03	.	16.8728	0.86044	0.0:1.0:0.0:0.0	.	624;419	Q5JU85-2;Q5JU85-3	.;.	Y	624;614;419	ENSP00000379712:D624Y;ENSP00000364517:D614Y;ENSP00000364514:D419Y	ENSP00000364514:D419Y	D	-	1	0	IQSEC2	53296613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.748000	0.85085	2.246000	0.74042	0.597000	0.82753	GAT	IQSEC2	-	NULL	ENSG00000124313		0.662	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		-	0	23	0	C	XM_291345		53279888	-1	tier1	-	no_errors	ENST00000396435	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.994	A	A	53279888	C	A	53279888	3	1	86	1	0	0	0	0	1	0	0	0	7845	826	29	3	2640	3	IQSEC2	23	53279888	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	4603094	53279888	101990672	240	23116											
OPHN1	4983	genome.wustl.edu	37	chrX	67273604	67273604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcactggggggcggatgatgGttggcttttctcctggaggc	4	12	17	8	1	2	1	1	1	1	0	3	3	2	3	1	8	0	2	1	8	0	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:67273604G>T	ENST00000355520.5	-	22	2848	c.2207C>A	c.(2206-2208)aCc>aAc	p.T736N	OPHN1_ENST00000540071.1_Missense_Mutation_p.T628N	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	736	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCGGATGATGGTTGGCTTTTC	0.557																																																	0													59	53	55					X																	67273604		2203	4300	6503	SO:0001583	missense	0			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"Rho GTPase activating proteins"	8148	protein-coding gene	gene with protein product		300127	"mental retardation, X-linked 60"	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2207C>A	X.37:g.67273604G>T	ENSP00000347710:p.Thr736Asn		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.T736N	ENST00000355520.5	37	c.2207	CCDS14388.1	X	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162624	0.38217	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.55052	0.54;0.54	4.98	4.12	0.48240	.	0.594079	0.17776	N	0.162427	T	0.49830	0.1580	N	0.14661	0.345	0.09310	N	1	D;B	0.61697	0.99;0.396	D;B	0.68621	0.959;0.133	T	0.29912	-0.9996	10	0.38643	T	0.18	.	6.6911	0.23171	0.2121:0.0:0.7879:0.0	.	628;736	F5H2E3;O60890	.;OPHN1_HUMAN	N	736;628	ENSP00000347710:T736N;ENSP00000438617:T628N	ENSP00000347710:T736N	T	-	2	0	OPHN1	67190329	1.000000	0.71417	0.996000	0.52242	0.887000	0.51463	3.375000	0.52410	1.086000	0.41228	0.600000	0.82982	ACC	OPHN1	-	NULL	ENSG00000079482		0.557	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPHN1	HGNC	protein_coding	OTTHUMT00000057011.1		0	36	0	G	NM_002547		67273604	-1			no_errors	ENST00000355520	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.996	T	T	67273604	G	T	67273604	3	4	86	1	0	0	0	0	1	0	0	0	10914	1261	44	3	213	3	OPHN1	23	67273604	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	13993716	67273604	87996956	241	23117											
ATRX	546	genome.wustl.edu	37	chrX	76920219	76920219	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagatccatcctcatcAgaggaaagattggctttaat	13	12	8	8	0	3	4	2	1	1	3	5	5	5	5	2	2	0	1	2	2	3	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:76920219A>G	ENST00000373344.5	-	11	4072	c.3858T>C	c.(3856-3858)tcT>tcC	p.S1286S	ATRX_ENST00000395603.3_Silent_p.S1248S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1286	Interaction with DAXX.			S -> P (in Ref. 4; BAD92165). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CATCCTCATCAGAGGAAAGAT	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											122	110	114					X																	76920219		2203	4296	6499	SO:0001819	synonymous_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"RAD54 homolog (S. cerevisiae)"	300032	"alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)", "Juberg-Marsidi syndrome"	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3858T>C	X.37:g.76920219A>G			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1286	ENST00000373344.5	37	c.3858	CCDS14434.1	X																																																																																			ATRX	-	NULL	ENSG00000085224		0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	-	0	32	0	A	NM_000489		76920219	-1	tier1	-	no_errors	ENST00000373344	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.991	G	G	76920219	A	G	76920219	2	3	86	1	0	0	0	0	0	0	0	1	1209	175	7	4		4	ATRX	23	76920219	Silent	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	9646615	76920219	78350341	242	23118											
NAP1L3	4675	genome.wustl.edu	37	chrX	92926986	92926986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaggactaaagaagttgaAgaatgatgcattaggaacca	18	7	12	4	0	0	4	0	2	0	2	0	7	0	7	1	3	2	2	1	3	7	3			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:92926986A>G	ENST00000373079.3	-	1	1581	c.1318T>C	c.(1318-1320)Ttc>Ctc	p.F440L	FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.F433L|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	440					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						AAGAAGTTGAAGAATGATGCA	0.433																																																	0													78	61	67					X																	92926986		2203	4300	6503	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1318T>C	X.37:g.92926986A>G	ENSP00000362171:p.Phe440Leu		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.F440L	ENST00000373079.3	37	c.1318	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	A	18.93	3.727301	0.69074	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.65732	-0.17	3.42	3.42	0.39159	.	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.90252	3.1	0.40990	D	0.984849	D	0.57257	0.979	D	0.74023	0.982	T	0.83129	-0.0114	10	0.87932	D	0	.	9.462	0.38789	1.0:0.0:0.0:0.0	.	440	Q99457	NP1L3_HUMAN	L	440;433	ENSP00000362171:F440L	ENSP00000362171:F440L	F	-	1	0	NAP1L3	92813642	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.985000	0.63845	1.588000	0.49971	0.430000	0.28490	TTC	NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.433	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0	34	0	A	NM_004538		92926986	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	G	G	92926986	A	G	92926986	3	3	86	1	0	0	0	0	1	0	0	0	10196	72	3	4	206	4	NAP1L3	23	92926986	Missense_Mutation	SNP	A	TCGA-L5-A8NL-01A-12D-A37C-09	16006767	92926986	62343574	243	23119											
CENPI	2491	genome.wustl.edu	37	chrX	100395679	100395679	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcttcagagtctgaaaGagctattgcagaattggctg	10	12	13	6	0	2	4	1	1	1	3	2	4	2	4	0	1	3	4	0	1	3	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:100395679G>T	ENST00000372927.1	+	15	1772	c.1495G>T	c.(1495-1497)Gag>Tag	p.E499*	CENPI_ENST00000423383.1_Nonsense_Mutation_p.E499*|CENPI_ENST00000372926.1_Nonsense_Mutation_p.E499*|CENPI_ENST00000218507.5_Nonsense_Mutation_p.E499*	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	499					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GAGTCTGAAAGAGCTATTGCA	0.403																																																	0													222	208	213					X																	100395679		2203	4300	6503	SO:0001587	stop_gained	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1495G>T	X.37:g.100395679G>T	ENSP00000362018:p.Glu499*		Q5JWZ9|Q96ED0	Nonsense_Mutation	SNP	pfam_CENP-I	p.E499*	ENST00000372927.1	37	c.1495	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	g	39	7.681898	0.98431	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.48	4.57	0.56435	.	0.334913	0.34879	N	0.003614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-6.7795	15.9146	0.79503	0.0:0.1317:0.8683:0.0	.	.	.	.	X	499	.	ENSP00000218507:E499X	E	+	1	0	CENPI	100282335	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	2.418000	0.44662	2.428000	0.82296	0.600000	0.82982	GAG	CENPI	-	pfam_CENP-I	ENSG00000102384		0.403	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	-	0	23	0	G	NM_006733		100395679	1	tier1	-	no_errors	ENST00000372927	ensembl	human	known	74_37	nonsense	12.50	28	4	SNP	1.000	T	T	100395679	G	T	100395679	4	4	86	1	0	0	0	0	0	1	0	0	3240	943	33	3	1549	3	CENPI	23	100395679	Nonsense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	7468693	100395679	54874881	244	23120											
AMOT	154796	genome.wustl.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	1	16	18	6	0	0	1	0	1	0	0	0	1	0	1	0	4	5	8	0	4	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:112058796C>T	ENST00000524145.1	-	3	1256	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371959.3_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q			Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582																																																	1	Substitution - coding silent(1)	lung(1)											38	34	36					X																	112058796		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1182G>A	X.37:g.112058796C>T			Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.Q394	ENST00000524145.1	37	c.1182	CCDS48154.1	X																																																																																			AMOT	-	NULL	ENSG00000126016		0.582	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1		0	34	0	C	NM_133265		112058796	-1			no_errors	ENST00000371959	ensembl	human	known	74_37	silent	11.11	24	3	SNP	0.970	T	T	112058796	C	T	112058796	2	4	86	1	0	0	0	0	0	0	0	1	582	796	28	3		3	AMOT	23	112058796	Silent	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	11663117	112058796	43211764	245	23121											
THOC2	57187	genome.wustl.edu	37	chrX	122802071	122802071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatccattttttcagaaGacaacacaaccatcgtaagc	14	10	5	12	1	2	2	2	0	0	2	4	2	3	2	2	0	3	2	2	0	4	4			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:122802071G>T	ENST00000245838.8	-	10	987	c.956C>A	c.(955-957)tCt>tAt	p.S319Y	THOC2_ENST00000355725.4_Missense_Mutation_p.S319Y|THOC2_ENST00000491737.1_Missense_Mutation_p.S204Y	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	319					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						tttttcAGAAGACAACACAAC	0.348																																																	0													198	175	182					X																	122802071		1825	4076	5901	SO:0001583	missense	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.956C>A	X.37:g.122802071G>T	ENSP00000245838:p.Ser319Tyr		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.S319Y	ENST00000245838.8	37	c.956	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395663	0.62177	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.38	5.38	0.77491	.	0.195954	0.35805	N	0.002963	T	0.66237	0.2769	L	0.57536	1.79	0.52501	D	0.999957	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.64470	-0.6400	9	0.72032	D	0.01	-7.6386	18.2651	0.90050	0.0:0.0:1.0:0.0	.	240;319	B4DKZ6;Q8NI27	.;THOC2_HUMAN	Y	319;319;204;240	.	ENSP00000245838:S319Y	S	-	2	0	THOC2	122629752	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	8.979000	0.93455	2.250000	0.74265	0.600000	0.82982	TCT	THOC2	-	NULL	ENSG00000125676		0.348	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	-	0	42	0	G			122802071	-1	tier1	-	no_errors	ENST00000245838	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	122802071	G	T	122802071	3	4	86	1	0	0	0	0	1	0	0	0	15912	942	33	3	3941	3	THOC2	23	122802071	Missense_Mutation	SNP	G	TCGA-L5-A8NL-01A-12D-A37C-09	10743275	122802071	32468489	246	23122											
ODZ1	10178	genome.wustl.edu	37	chrX	123631044	123631044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actcctttggtgtccattacCcattatggttgatatgactg	8	16	8	9	0	0	2	0	2	0	0	2	2	2	2	3	2	1	1	3	2	3	5			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:123631044C>T	ENST00000371130.3	-	20	3580	c.3517G>A	c.(3517-3519)Ggt>Agt	p.G1173S	TENM1_ENST00000461429.1_5'Flank|TENM1_ENST00000422452.2_Missense_Mutation_p.G1173S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1173					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGTCCATTACCCATTATGGTT	0.453																																																	0													114	96	102					X																	123631044		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"tenascin M", "odz, odd Oz/ten-m homolog 1 (Drosophila)"	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3517G>A	X.37:g.123631044C>T	ENSP00000360171:p.Gly1173Ser		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.G1173S	ENST00000371130.3	37	c.3517	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	21.6	4.173834	0.78452	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.97041	-4.22;-3.88	5.31	5.31	0.75309	.	0.056707	0.64402	D	0.000001	D	0.98713	0.9568	M	0.93016	3.37	0.80722	D	1	P;D;D	0.69078	0.813;0.977;0.997	B;P;D	0.63793	0.357;0.597;0.918	D	0.99748	1.1017	10	0.87932	D	0	.	18.0775	0.89432	0.0:1.0:0.0:0.0	.	1172;1173;1173	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1173	ENSP00000360171:G1173S;ENSP00000403954:G1173S	ENSP00000360171:G1173S	G	-	1	0	ODZ1	123458725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.204000	0.70986	0.600000	0.82982	GGT	TENM1	-	NULL	ENSG00000009694		0.453	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0	43	0	C	NM_014253		123631044	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	43.90	23	18	SNP	1.000	T	T	123631044	C	T	123631044	3	4	86	1	0	0	0	0	1	0	0	0	10873	623	22	3	4733	3	ODZ1	23	123631044	Missense_Mutation	SNP	C	TCGA-L5-A8NL-01A-12D-A37C-09	828973	123631044	31639516	247	23123											
GAB3	139716	genome.wustl.edu	37	chrX	153906516	153906516	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctctggagagcctgtgtcTtctgctcatccacttggaca	6	13	10	12	0	4	1	1	0	3	1	5	3	5	2	2	2	3	2	2	2	0	2			TCGA-L5-A8NL-01A-12D-A37C-09	TCGA-L5-A8NL-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b6b94782-491a-4150-bcb6-7c4cc2d0ef25	46ff075c-bad7-476a-8841-bb8e7378c3b9	g.chrX:153906516T>G	ENST00000369575.3	-	10	1731	c.1700A>C	c.(1699-1701)aAg>aCg	p.K567T	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.K568T	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	567					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCTGTGTCTTCTGCTCATC	0.438																																																	0													189	140	157					X																	153906516		2203	4300	6503	SO:0001583	missense	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"Pleckstrin homology (PH) domain containing"	17515	protein-coding gene	gene with protein product	"DOS/Gab family member 3", "Gab3 scaffolding protein"	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1700A>C	X.37:g.153906516T>G	ENSP00000358588:p.Lys567Thr		A6NHF8|E9PB44	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K568T	ENST00000369575.3	37	c.1703	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087625	0.76642	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.39997	1.05;1.86;1.35	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.85945	2.785	0.58432	D	0.999993	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.61940	0.896;0.896;0.896	T	0.70673	-0.4807	10	0.87932	D	0	-22.8399	11.9318	0.52851	0.0:0.0:0.0:1.0	.	529;568;567	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	T	567;529;568	ENSP00000358588:K567T;ENSP00000358581:K529T;ENSP00000399588:K568T	ENSP00000358581:K529T	K	-	2	0	GAB3	153559710	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.387000	0.59626	1.719000	0.51432	0.417000	0.27973	AAG	GAB3	-	NULL	ENSG00000160219		0.438	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	-	0	26	0	T	NM_001081573		153906516	-1	tier1	-	no_errors	ENST00000424127	ensembl	human	known	74_37	missense	52.17	11	12	SNP	1.000	G	G	153906516	T	G	153906516	3	3	86	1	0	0	0	0	1	0	0	0	6174	1609	56	4	64	4	GAB3	23	153906516	Missense_Mutation	SNP	T	TCGA-L5-A8NL-01A-12D-A37C-09	30275472	153906516	1364044	248	23124											
TTLL10	254173	genome.wustl.edu	37	chr1	1117146	1117146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggacgcagcagcgcccGccctggaggacctcccgtgg	9	3	14	15	4	0	0	0	0	0	0	1	3	1	3	4	4	2	2	4	4	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1117146G>T	ENST00000379290.1	+	9	954	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S	TTLL10_ENST00000379288.3_Missense_Mutation_p.A188S|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.A261S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	261	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGCAGCGCCCGCCCTGGAGGA	0.652																																																	0													35	30	32					1																	1117146		2193	4286	6479	SO:0001583	missense	0			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"Tubulin tyrosine ligase-like family"	26693	protein-coding gene	gene with protein product			"tubulin tyrosine ligase-like family, member 5"	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.781G>T	1.37:g.1117146G>T	ENSP00000368592:p.Ala261Ser		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.A261S	ENST00000379290.1	37	c.781	CCDS44036.1	1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.425834	0.00186	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.15256	3.29;3.29;2.44	1.45	-2.91	0.05631	.	1.010820	0.07967	N	0.983359	T	0.06690	0.0171	N	0.08118	0	0.09310	N	1	B;B	0.23185	0.081;0.042	B;B	0.20955	0.03;0.032	T	0.31194	-0.9952	10	0.08179	T	0.78	.	6.1804	0.20468	0.2212:0.0:0.6209:0.1579	.	188;261	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	S	261;261;188	ENSP00000368592:A261S;ENSP00000368591:A261S;ENSP00000368590:A188S	ENSP00000368590:A188S	A	+	1	0	TTLL10	1107009	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.190000	0.03058	-3.170000	0.00225	-3.413000	0.00038	GCC	TTLL10	-	NULL	ENSG00000162571		0.652	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10	HGNC	protein_coding	OTTHUMT00000002421.3	-	0	90	0	G	NM_153254		1117146	1	tier1	-	no_errors	ENST00000379289	ensembl	human	known	74_37	missense	12.63	82	12	SNP	0.000	T	T	1117146	G	T	1117146	3	4	87	1	0	0	0	0	1	0	0	0	16772	1087	38	2	803	2	TTLL10	1	1117146	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		1117146	248133475	1	23125											
SCNN1D	6339	genome.wustl.edu	37	chr1	1222275	1222275	+	Frame_Shift_Del	DEL	C	C	-																															ccactgtcccccgccacgagCcccccttccacctggaccgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1222275delC	ENST00000338555.2	+	5	1691	c.547delC	c.(547-549)cccfs	p.P184fs	SCNN1D_ENST00000325425.8_Frame_Shift_Del_p.P250fs|SCNN1D_ENST00000400928.3_Frame_Shift_Del_p.P184fs|SCNN1D_ENST00000379116.5_Frame_Shift_Del_p.P348fs			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	184					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CCGCCACGAGCCCCCCTTCCA	0.657																																																	0													33	44	40					1																	1222275		2193	4294	6487	SO:0001589	frameshift_variant	0			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10601	protein-coding gene	gene with protein product		601328	"sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta"			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.547delC	1.37:g.1222275delC	ENSP00000339504:p.Pro184fs		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Frame_Shift_Del	DEL	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.F349fs	ENST00000338555.2	37	c.1039		1																																																																																			SCNN1D	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000162572		0.657	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	SCNN1D	HGNC	protein_coding	OTTHUMT00000005802.2		0	78	0	C	NM_002978		1222275	1	tier1		no_errors	ENST00000379116	ensembl	human	known	74_37	frame_shift_del	19.48	62	15	DEL	0.000	-	-	1222275	C	-	1222275	7	5	87	1	0	1	0	1	0	0	0	0	13974	739	26	0	763	0	SCNN1D	1	1222275	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	105129	1222275	248028346	2	23126											
ACAP3	116983	genome.wustl.edu	37	chr1	1229556	1229556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccgctccgttttgcagcagGaactcacagacgatcaagga	11	8	10	12	3	2	1	2	0	0	1	4	4	4	3	2	2	3	4	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1229556G>C	ENST00000354700.5	-	22	2365	c.2163C>G	c.(2161-2163)ttC>ttG	p.F721L	ACAP3_ENST00000353662.3_Missense_Mutation_p.F646L|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	721					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGCAGCAGGAACTCACAGA	0.706																																																	0													20	24	23					1																	1229556		2175	4273	6448	SO:0001583	missense	0			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16754	protein-coding gene	gene with protein product			"centaurin, beta 5"	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2163C>G	1.37:g.1229556G>C	ENSP00000346733:p.Phe721Leu		B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.F646L	ENST00000354700.5	37	c.1938	CCDS19.2	1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123716	0.56613	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.60548	0.18;0.18	4.71	2.82	0.32997	Ankyrin repeat-containing domain (4);	0.119241	0.64402	N	0.000020	T	0.36826	0.0981	N	0.00507	-1.42	0.40358	D	0.979215	D;P	0.76494	0.999;0.935	D;P	0.83275	0.996;0.884	T	0.39820	-0.9595	10	0.06757	T	0.87	.	9.8295	0.40932	0.1693:0.0:0.8307:0.0	.	721;646	Q96P50;Q96P50-1	ACAP3_HUMAN;.	L	721;646	ENSP00000346733:F721L;ENSP00000321139:F646L	ENSP00000321139:F646L	F	-	3	2	ACAP3	1219419	1.000000	0.71417	0.990000	0.47175	0.037000	0.13140	1.329000	0.33770	0.514000	0.28300	0.549000	0.68633	TTC	ACAP3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000131584		0.706	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAP3	HGNC	protein_coding	OTTHUMT00000006366.2	-	0	25	0	G	NM_030649		1229556	-1	tier1	-	no_errors	ENST00000353662	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	C	C	1229556	G	C	1229556	3	2	87	1	0	0	0	0	1	0	0	0	120	1165	41	5	353	5	ACAP3	1	1229556	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7281	1229556	248021065	3	23127											
AURKAIP1	54998	genome.wustl.edu	37	chr1	1309775	1309775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtgctgtaaaggggccCgcagacccggctgcccagca	8	5	14	14	3	0	1	0	0	0	1	0	2	0	1	3	3	3	5	3	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1309775C>A	ENST00000338370.3	-	2	503	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G35W|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G35W|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G35W			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	35					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TAAAGGGGCCCGCAGACCCGG	0.711																																																	0													4	7	6					1																	1309775		2017	3999	6016	SO:0001583	missense	0				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.103G>T	1.37:g.1309775C>A	ENSP00000342676:p.Gly35Trp		Q5TA36|Q8TBD3	Missense_Mutation	SNP	pfam_DUF1713_mit	p.G35W	ENST00000338370.3	37	c.103	CCDS25.1	1	.	.	.	.	.	.	.	.	.	.	c	17.65	3.443225	0.63067	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.15	-4.52	0.03472	.	1.200520	0.05989	N	0.645670	T	0.22975	0.0555	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.32640	-0.9899	10	0.66056	D	0.02	-3.1656	1.5658	0.02604	0.2046:0.2758:0.3531:0.1664	.	35	Q9NWT8	AKIP_HUMAN	W	35	ENSP00000340656:G35W;ENSP00000342676:G35W;ENSP00000319778:G35W;ENSP00000368130:G35W	ENSP00000319778:G35W	G	-	1	0	AURKAIP1	1299638	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	-0.314000	0.08092	-0.188000	0.10499	-0.302000	0.09304	GGG	AURKAIP1	-	NULL	ENSG00000175756		0.711	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKAIP1	HGNC	protein_coding	OTTHUMT00000008273.1	-	0	39	0	C	NM_017900		1309775	-1	tier1	-	no_errors	ENST00000321751	ensembl	human	known	74_37	missense	40.00	18	12	SNP	0.000	A	A	1309775	C	A	1309775	3	1	87	1	0	0	0	0	1	0	0	0	1223	652	23	2	504	2	AURKAIP1	1	1309775	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	80219	1309775	247940846	4	23128											
CCNL2	81669	genome.wustl.edu	37	chr1	1326208	1326208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctctggctggaaccgcaCgaagacgtcggtgcgaaggc	8	6	15	12	5	1	1	0	0	1	1	3	4	1	2	1	4	2	3	1	4	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1326208C>T	ENST00000400809.3	-	6	702	c.697G>A	c.(697-699)Gtg>Atg	p.V233M	CCNL2_ENST00000408952.5_Missense_Mutation_p.V11M|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	233	Cyclin-like 2.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGAACCGCACGAAGACGTCG	0.557																																																	0													83	84	83					1																	1326208		2203	4296	6499	SO:0001583	missense	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"cyclin S"	613482	"cyclin M"	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.697G>A	1.37:g.1326208C>T	ENSP00000383611:p.Val233Met		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.V233M	ENST00000400809.3	37	c.697	CCDS30557.1	1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171259	0.57584	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T;T	0.24350	1.86;1.86	5.84	5.84	0.93424	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.64402	D	0.000002	T	0.35364	0.0929	M	0.74881	2.28	0.80722	D	1	D	0.52996	0.957	B	0.42462	0.388	T	0.16837	-1.0389	10	0.38643	T	0.18	.	19.1261	0.93384	0.0:1.0:0.0:0.0	.	233	Q96S94	CCNL2_HUMAN	M	233;11	ENSP00000383611:V233M;ENSP00000386132:V11M	ENSP00000383611:V233M	V	-	1	0	CCNL2	1316071	1.000000	0.71417	0.997000	0.53966	0.452000	0.32318	5.657000	0.67996	2.779000	0.95612	0.655000	0.94253	GTG	CCNL2	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	ENSG00000221978		0.557	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	-	0	56	0	C	NM_030937		1326208	-1	tier1	-	no_errors	ENST00000400809	ensembl	human	known	74_37	missense	10.34	51	6	SNP	1.000	T	T	1326208	C	T	1326208	3	4	87	1	0	0	0	0	1	0	0	0	2939	536	19	1	889	1	CCNL2	1	1326208	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	16433	1326208	247924413	5	23129											
NADK	65220	genome.wustl.edu	37	chr1	1687725	1687725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggaagcgtacagcagcGtcccgtctccccccaggcag	8	4	13	16	4	1	0	0	0	1	0	3	2	2	1	4	2	4	3	4	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:1687725G>A	ENST00000341426.5	-	6	778	c.557C>T	c.(556-558)aCg>aTg	p.T186M	NADK_ENST00000342348.5_Missense_Mutation_p.T154M|NADK_ENST00000341991.3_Missense_Mutation_p.T186M|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.T331M|NADK_ENST00000344463.4_Missense_Mutation_p.T331M	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	186					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GTACAGCAGCGTCCCGTCTCC	0.507																																																	0													120	121	120					1																	1687725		2203	4300	6503	SO:0001583	missense	0			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.557C>T	1.37:g.1687725G>A	ENSP00000341679:p.Thr186Met		A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.T331M	ENST00000341426.5	37	c.992	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040481	0.55003	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.49	4.58	0.56647	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	H	0.98089	4.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91489	0.5210	10	0.87932	D	0	-47.1571	12.977	0.58542	0.079:0.0:0.9209:0.0	.	154;331;331;186	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	M	186;186;331;331;154;154	ENSP00000341679:T186M;ENSP00000344340:T186M;ENSP00000367890:T331M;ENSP00000340925:T331M;ENSP00000339727:T154M;ENSP00000383713:T154M	ENSP00000341679:T186M	T	-	2	0	NADK	1677585	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	9.059000	0.93902	1.332000	0.45431	0.462000	0.41574	ACG	NADK	-	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	ENSG00000008130		0.507	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	-	0	45	0	G	NM_023018		1687725	-1	tier1	-	no_errors	ENST00000344463	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	A	A	1687725	G	A	1687725	3	1	87	1	0	0	0	0	1	0	0	0	10175	1145	40	1	811	1	NADK	1	1687725	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	361517	1687725	247562896	6	23130											
PRKCZ	5590	genome.wustl.edu	37	chr1	2116391	2116391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggatcgaccagtcagaGttcgaaggctttgagtatat	13	10	12	6	2	1	3	1	1	0	2	3	6	1	4	1	2	0	3	1	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:2116391G>A	ENST00000400921.2	+	15	1856	c.1173G>A	c.(1171-1173)gaG>gaA	p.E391E	RP11-181G12.2_ENST00000444529.1_RNA|RP11-181G12.2_ENST00000536678.1_RNA|C1orf86_ENST00000400919.3_3'UTR|PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.E391E|RP11-181G12.2_ENST00000333854.2_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ACCAGTCAGAGTTCGAAGGCT	0.577																																																	0													137	118	124					1																	2116391		2203	4299	6502	SO:0001819	synonymous_variant	0			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1173G>A	1.37:g.2116391G>A			A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.E574	ENST00000400921.2	37	c.1722	CCDS41229.1	1																																																																																			PRKCZ	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta	ENSG00000067606		0.577	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	-	0	57	0	G	NM_002744		2116391	1	tier1	-	no_errors	ENST00000378567	ensembl	human	known	74_37	silent	15.22	39	7	SNP	1.000	A	A	2116391	G	A	2116391	2	1	87	1	0	0	0	0	0	0	0	1	12559	1020	36	3		3	PRKCZ	1	2116391	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	428666	2116391	247134230	7	23131											
PANK4	55229	genome.wustl.edu	37	chr1	2457955	2457955	+	Frame_Shift_Del	DEL	G	G	-																															aggttgcggaagatctcgtcGgggggcagcgtgatgctctt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:2457955delG	ENST00000378466.3	-	1	84	c.72delC	c.(70-72)cccfs	p.P24fs	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Frame_Shift_Del_p.P24fs	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	24					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AGATCTCGTCGGGGGGCAGCG	0.701																																																	0													49	47	48					1																	2457955		2202	4298	6500	SO:0001589	frameshift_variant	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.72delC	1.37:g.2457955delG	ENSP00000367727:p.Pro24fs		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Frame_Shift_Del	DEL	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.D25fs	ENST00000378466.3	37	c.72	CCDS42.1	1																																																																																			PANK4	-	pirsf_PanK_long	ENSG00000157881		0.701	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1		0	127	0	G			2457955	-1	tier1		no_errors	ENST00000378466	ensembl	human	known	74_37	frame_shift_del	9.52	76	8	DEL	0.998	-	-	2457955	G	-	2457955	7	5	87	1	0	1	0	1	0	0	0	0	11458	1103	39	0	2325	0	PANK4	1	2457955	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	341564	2457955	246792666	8	23132											
ACTRT2	140625	genome.wustl.edu	37	chr1	2939156	2939156	+	Frame_Shift_Del	DEL	G	G	-																															tttggggagattgtgctgtcGgggggcactaccctgttcca																								rs539561070		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:2939156delG	ENST00000378404.2	+	1	1111	c.906delG	c.(904-906)tcgfs	p.S302fs		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	302						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TTGTGCTGTCGGGGGGCACTA	0.612																																																	0													54	63	60					1																	2939156		2203	4300	6503	SO:0001589	frameshift_variant	0			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.906delG	1.37:g.2939156delG	ENSP00000367658:p.Ser302fs		B1AN52|Q8NHS6|Q8TDG1	Frame_Shift_Del	DEL	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.G304fs	ENST00000378404.2	37	c.906	CCDS45.1	1																																																																																			ACTRT2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169717		0.612	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT2	HGNC	protein_coding	OTTHUMT00000001331.1		0	75	0	G	NM_080431		2939156	1	tier1		no_errors	ENST00000378404	ensembl	human	known	74_37	frame_shift_del	10.39	69	8	DEL	0.003	-	-	2939156	G	-	2939156	7	5	87	1	0	1	0	1	0	0	0	0	219	1103	39	0	908	0	ACTRT2	1	2939156	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	481201	2939156	246311465	9	23133											
MEGF6	1953	genome.wustl.edu	37	chr1	3410403	3410404	+	Frame_Shift_Ins	INS	-	-	C																															ggtgacagggtcacagggtgINScccccccgtcacagtcacag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:3410403_3410404insC	ENST00000356575.4	-	34	4544_4545	c.4318_4319insG	c.(4318-4320)gcafs	p.A1440fs	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1440						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A1440P(1)		cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTCACAGGGTGCCCCCCCGTCA	0.668																																					Ovarian(73;978 3658)												1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4319dupG	1.37:g.3410410_3410410dupC	ENSP00000348982:p.Ala1440fs		Q4AC86|Q5VV39	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.A1440fs	ENST00000356575.4	37	c.4319_4318	CCDS41237.1	1																																																																																			MEGF6	-	smart_EG-like_dom,smart_EGF_laminin	ENSG00000162591		0.668	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1		0	66	0	-	NM_001409		3410404	-1	tier1		no_errors	ENST00000356575	ensembl	human	known	74_37	frame_shift_ins	36.51	40	23	INS	0.000:0.000	C	C	3410404	-	C	3410403	7	5	87	1	0	1	1	0	0	0	0	0	9500	1319	46	0	322	0	MEGF6	1	3410403	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	471247	3410403	245840218	10	23134											
KIAA0562	9731	genome.wustl.edu	37	chr1	3742955	3742955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctagatagtgctcatccGggattcccagagcttcagca	10	11	9	11	1	3	2	2	0	1	2	5	3	5	3	2	1	3	3	2	1	3	5	rs201407033		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:3742955G>A	ENST00000378230.3	-	17	2558	c.2234C>T	c.(2233-2235)cCg>cTg	p.P745L		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	745						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTGCTCATCCGGGATTCCCAG	0.428																																																	0								G	LEU/PRO	0,4406		0,0,2203	81	77	79		2234	4.5	0	1		79	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CEP104	NM_014704.3	98	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	745/926	3742955	3,13003	2203	4300	6503	SO:0001583	missense	0			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"glycine, glutamate, thienylcyclohexylpiperidine binding protein"		"KIAA0562"	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2234C>T	1.37:g.3742955G>A	ENSP00000367476:p.Pro745Leu		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.P745L	ENST00000378230.3	37	c.2234	CCDS30571.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.762|9.762	1.170235|1.170235	0.21621|0.21621	0.0|0.0	3.49E-4|3.49E-4	ENSG00000116198|ENSG00000116198	ENST00000378230|ENST00000438539	T|.	0.45668|.	0.89|.	4.52|4.52	4.52|4.52	0.55395|0.55395	.|.	0.232811|.	0.36101|.	N|.	0.002788|.	T|T	0.70124|0.70124	0.3188|0.3188	M|M	0.65975|0.65975	2.015|2.015	0.48975|0.48975	D|D	0.999732|0.999732	P|.	0.47841|.	0.901|.	B|.	0.34418|.	0.182|.	T|T	0.69702|0.69702	-0.5074|-0.5074	10|5	0.23302|.	T|.	0.38|.	.|.	12.6391|12.6391	0.56698|0.56698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	745|.	O60308|.	CE104_HUMAN|.	L|W	745|42	ENSP00000367476:P745L|.	ENSP00000367476:P745L|.	P|R	-|-	2|1	0|2	CEP104|CEP104	3732815|3732815	0.027000|0.027000	0.19231|0.19231	0.005000|0.005000	0.12908|0.12908	0.005000|0.005000	0.04900|0.04900	1.801000|1.801000	0.38843|0.38843	2.334000|2.334000	0.79466|0.79466	0.655000|0.655000	0.94253|0.94253	CCG|CGG	CEP104	-	NULL	ENSG00000116198		0.428	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	-	0	52	0	G	NM_014704		3742955	-1	tier1	rs201407033	no_errors	ENST00000378230	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.010	A	A	3742955	G	A	3742955	3	1	87	1	0	0	0	0	1	0	0	0	8211	1116	39	1	567	1	KIAA0562	1	3742955	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	332552	3742955	245507666	11	23135											
KCNAB2	8514	genome.wustl.edu	37	chr1	6150469	6150469	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaaagcttccctggagCgactgcagctggagtacgtg	8	9	14	10	2	1	1	0	1	1	0	2	4	2	3	1	2	5	4	1	2	2	2	rs139249498		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6150469C>T	ENST00000164247.1	+	10	1000	c.436C>T	c.(436-438)Cga>Tga	p.R146*	KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378097.1_Nonsense_Mutation_p.R146*|KCNAB2_ENST00000378083.3_Nonsense_Mutation_p.R179*|KCNAB2_ENST00000341524.1_Nonsense_Mutation_p.R146*|KCNAB2_ENST00000378092.1_Nonsense_Mutation_p.R132*|KCNAB2_ENST00000602612.1_Nonsense_Mutation_p.R146*|KCNAB2_ENST00000352527.1_Nonsense_Mutation_p.R132*|KCNAB2_ENST00000458166.2_Nonsense_Mutation_p.R79*|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	146					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCTGGAGCGACTGCAGCT	0.667																																																	0								C	stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	77	66	70		436,436,535,235,436,394	3.6	1	1	dbSNP_134	70	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained,stop-gained,stop-gained,stop-gained	KCNAB2	NM_001199860.1,NM_001199861.1,NM_001199862.1,NM_001199863.1,NM_003636.3,NM_172130.2	,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,	146/368,146/368,179/416,79/301,146/368,132/354	6150469	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"Potassium channels", "Aldo-keto reductases"	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.436C>T	1.37:g.6150469C>T	ENSP00000164247:p.Arg146*		A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Nonsense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.R179*	ENST00000164247.1	37	c.535	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.485045	0.96323	0.0	1.16E-4	ENSG00000069424	ENST00000378097;ENST00000378092;ENST00000428161;ENST00000389632;ENST00000341524;ENST00000352527;ENST00000164247;ENST00000378083;ENST00000458166	.	.	.	4.55	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.2763	11.9875	0.53155	0.4327:0.5673:0.0:0.0	.	.	.	.	X	146;132;132;146;146;132;146;179;79	.	ENSP00000164247:R146X	R	+	1	2	KCNAB2	6073056	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.435000	0.34969	1.001000	0.39076	0.462000	0.41574	CGA	KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000069424		0.667	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	-	0	80	0	C	NM_172130		6150469	1	tier1	rs139249498	no_errors	ENST00000378083	ensembl	human	known	74_37	nonsense	13.64	57	9	SNP	0.999	T	T	6150469	C	T	6150469	4	4	87	1	0	0	0	0	0	1	0	0	8037	760	27	1	470	1	KCNAB2	1	6150469	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2407514	6150469	243100152	12	23136											
RNF207	388591	genome.wustl.edu	37	chr1	6270328	6270328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggagcagctctctcaCttggccaccttgctgcccac	7	10	8	16	0	3	0	2	0	1	0	4	1	3	1	3	2	4	3	3	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6270328C>T	ENST00000377939.4	+	9	973	c.846C>T	c.(844-846)caC>caT	p.H282H	RNF207_ENST00000377948.2_Silent_p.H55H	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	282						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AGCTCTCTCACTTGGCCACCT	0.677																																																	0													73	72	73					1																	6270328		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"RING-type (C3HC4) zinc fingers"	32947	protein-coding gene	gene with protein product	"OTTHUMG00000001089"		"chromosome 1 open reading frame 188"	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.846C>T	1.37:g.6270328C>T			A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	NULL	p.H55	ENST00000377939.4	37	c.165	CCDS59.2	1																																																																																			RNF207	-	NULL	ENSG00000158286		0.677	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RNF207	HGNC	protein_coding	OTTHUMT00000003669.2	-	0	70	0	C	NM_207396		6270328	1	tier1	-	no_errors	ENST00000377948	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.982	T	T	6270328	C	T	6270328	2	4	87	1	0	0	0	0	0	0	0	1	13519	564	20	3		3	RNF207	1	6270328	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	119859	6270328	242980293	13	23137											
ESPN	83715	genome.wustl.edu	37	chr1	6504567	6504567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcaccgcgtgctttcccgGgatccatccgcagagctgga	7	7	13	14	4	0	1	0	0	0	1	3	4	3	3	4	2	3	4	4	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6504567G>A	ENST00000377828.1	+	6	1185	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	339					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTTTCCCGGGATCCATCCG	0.612																																																	0													77	59	65					1																	6504567		2203	4300	6503	SO:0001819	synonymous_variant	0			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1017G>A	1.37:g.6504567G>A			Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.R339	ENST00000377828.1	37	c.1017	CCDS70.1	1																																																																																			ESPN	-	NULL	ENSG00000187017		0.612	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	-	0	40	0	G	NM_031475		6504567	1	tier1	-	no_errors	ENST00000377828	ensembl	human	known	74_37	silent	17.39	38	8	SNP	1.000	A	A	6504567	G	A	6504567	2	1	87	1	0	0	0	0	0	0	0	1	5270	1219	43	3		3	ESPN	1	6504567	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	234239	6504567	242746054	14	23138											
ZBTB48	3104	genome.wustl.edu	37	chr1	6649032	6649032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagagaactacaacccgcgGcagcgcaagctccgcaacct	12	4	10	15	4	0	1	0	0	0	1	1	2	1	1	3	1	6	5	3	1	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6649032G>A	ENST00000377674.4	+	11	1985	c.1827G>A	c.(1825-1827)cgG>cgA	p.R609R		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	609					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		ACAACCCGCGGCAGCGCAAGC	0.642																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)												0													57	68	64					1																	6649032		2203	4300	6503	SO:0001819	synonymous_variant	0			BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	4930	protein-coding gene	gene with protein product		165270	"GLI-Kruppel family member HKR3"	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1827G>A	1.37:g.6649032G>A			Q5SY19	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R609	ENST00000377674.4	37	c.1827	CCDS84.1	1																																																																																			ZBTB48	-	NULL	ENSG00000204859		0.642	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB48	HGNC	protein_coding	OTTHUMT00000004193.1	-	0	60	0	G	NM_005341		6649032	1	tier1	-	no_errors	ENST00000377674	ensembl	human	known	74_37	silent	11.11	48	6	SNP	0.996	A	A	6649032	G	A	6649032	2	1	87	1	0	0	0	0	0	0	0	1	17597	1190	42	3		3	ZBTB48	1	6649032	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	144465	6649032	242601589	15	23139											
PHF13	148479	genome.wustl.edu	37	chr1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-																															agaaagaaaacggacaagctGaagaagaagaagaagaggaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576																																																	0										54,4212		2,50,2081						5.5	1			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"Zinc fingers, PHD-type"	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.K120in_frame_del	ENST00000377648.4	37	c.348_350	CCDS85.1	1																																																																																			PHF13	-	NULL	ENSG00000116273		0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1		0	23	0	GAA	NM_153812		6680071	1	tier1		no_errors	ENST00000377648	ensembl	human	known	74_37	in_frame_del	25.81	23	8	DEL	0.998:1.000:1.000	-	-	6680071	GAA	-	6680069	7	5	87	1	0	1	0	1	0	0	0	0	11863	1277	45	0	358	0	PHF13	1	6680069	In_Frame_Del	DEL	GAA	TCGA-L5-A8NM-01A-11D-A37C-09	31037	6680069	242570552	16	23140											
CAMTA1	23261	genome.wustl.edu	37	chr1	7723713	7723714	+	Frame_Shift_Ins	INS	-	-	C																															agcagcgggctcaacagcgaINScccggacatggtggacagcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:7723713_7723714insC	ENST00000303635.7	+	9	1313_1314	c.1106_1107insC	c.(1105-1110)gacccgfs	p.DP369fs	CAMTA1_ENST00000439411.2_Frame_Shift_Ins_p.DP369fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCAACAGCGACCCGGACATGG	0.644			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0																																										SO:0001589	frameshift_variant	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1109dupC	1.37:g.7723716_7723716dupC	ENSP00000306522:p.Asp369fs		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Frame_Shift_Ins	INS	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.D371fs	ENST00000303635.7	37	c.1106_1107	CCDS30576.1	1																																																																																			CAMTA1	-	NULL	ENSG00000171735		0.644	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3		0	57	0	-	NM_015215		7723714	1	tier1		no_errors	ENST00000303635	ensembl	human	known	74_37	frame_shift_ins	11.36	39	5	INS	1.000:1.000	C	C	7723714	-	C	7723713	7	5	87	1	0	1	1	0	0	0	0	0	2620	275	10	0	1140	0	CAMTA1	1	7723713	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1043644	7723713	241526908	17	23141											
PER3	8863	genome.wustl.edu	37	chr1	7887598	7887598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgtctgtcctctgttgtCgccatcgtttttgccatgtc	2	17	8	14	2	2	0	0	0	2	0	6	0	3	0	4	0	1	2	4	0	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:7887598C>T	ENST00000361923.2	+	17	2760	c.2585C>T	c.(2584-2586)tCg>tTg	p.S862L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.S870L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	862	Pro-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTGTTGTCGCCATCGTTT	0.537																																																	0													193	187	189					1																	7887598		2203	4300	6503	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"period (Drosophila) homolog 3", "period homolog 3 (Drosophila)"			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2585C>T	1.37:g.7887598C>T	ENSP00000355031:p.Ser862Leu		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.S862L	ENST00000361923.2	37	c.2585	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	9.535	1.111854	0.20714	.	.	ENSG00000049246	ENST00000377532;ENST00000361923;ENST00000539773	T;T	0.10005	2.93;2.92	4.32	1.06	0.20224	.	2.862750	0.01478	N	0.016563	T	0.12178	0.0296	L	0.39898	1.24	0.09310	N	1	D;D;D;D	0.62365	0.984;0.984;0.991;0.984	B;B;P;B	0.46237	0.31;0.31;0.508;0.31	T	0.33777	-0.9855	10	0.12103	T	0.63	.	7.5141	0.27590	0.1433:0.6877:0.0:0.169	.	862;870;870;862	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	L	870;862;73	ENSP00000366755:S870L;ENSP00000355031:S862L	ENSP00000355031:S862L	S	+	2	0	PER3	7810185	0.007000	0.16637	0.000000	0.03702	0.036000	0.12997	0.166000	0.16583	0.461000	0.27071	0.555000	0.69702	TCG	PER3	-	NULL	ENSG00000049246		0.537	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0	64	0	C	NM_016831		7887598	1	tier1	-	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	30.00	49	21	SNP	0.000	T	T	7887598	C	T	7887598	3	4	87	1	0	0	0	0	1	0	0	0	11770	893	31	1	2651	1	PER3	1	7887598	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	163885	7887598	241363023	18	23142											
RERE	473	genome.wustl.edu	37	chr1	8419873	8419873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgctcccgctcccgctccTtctccttctccttctcccgc	0	13	4	24	4	3	0	0	0	3	0	10	0	6	0	6	0	0	3	6	0	0	3	rs147985313|rs376434590	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:8419873T>C	ENST00000337907.3	-	20	4203	c.3569A>G	c.(3568-3570)aAg>aGg	p.K1190R	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.K922R|RERE_ENST00000400908.2_Missense_Mutation_p.K1190R|RERE_ENST00000476556.1_Missense_Mutation_p.K636R	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1190	Arg/Glu-rich (mixed charge).				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ctcccgctccttctccttctc	0.677													T|||	27	0.00539137	0.0083	0.0043	5008	,	,		15766	0.0089		0.003	False		,,,				2504	0.001																0								T	ARG/LYS,ARG/LYS,ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	33	33	33		3569,1907,3569	5.4	1	1		33	0,8600		0,0,4300	no	missense,missense,missense	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	26,26,26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1190/1567,636/1013,1190/1567	8419873	1,13005	2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3569A>G	1.37:g.8419873T>C	ENSP00000338629:p.Lys1190Arg		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.K1190R	ENST00000337907.3	37	c.3569	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	T	10.12	1.264258	0.23136	2.27E-4	0.0	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.76060	-0.99;4.18;4.18;-0.99	5.42	5.42	0.78866	.	.	.	.	.	T	0.58061	0.2096	L	0.33668	1.02	0.39213	D	0.963359	B	0.27416	0.178	B	0.30316	0.114	T	0.53222	-0.8469	9	0.07325	T	0.83	-13.3852	6.6534	0.22975	0.0:0.0791:0.1554:0.7655	.	1190	Q9P2R6	RERE_HUMAN	R	1190;922;636;1190	ENSP00000338629:K1190R;ENSP00000366684:K922R;ENSP00000422246:K636R;ENSP00000383700:K1190R	ENSP00000338629:K1190R	K	-	2	0	RERE	8342460	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	5.886000	0.69743	2.039000	0.60335	0.533000	0.62120	AAG	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.677	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1		0	89	0	T			8419873	-1			no_errors	ENST00000337907	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	C	C	8419873	T	C	8419873	3	2	87	1	0	0	0	0	1	0	0	0	13276	1609	56	4	1151	4	RERE	1	8419873	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	532275	8419873	240830748	19	23143											
RERE	473	genome.wustl.edu	37	chr1	8555155	8555155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcagagtggtgtcatcccGagaggctgcgacacagccgt	9	8	13	11	3	2	2	2	0	0	2	3	4	3	2	2	2	2	1	2	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:8555155G>A	ENST00000337907.3	-	11	1706	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W	RERE_ENST00000400907.2_Missense_Mutation_p.R358W|RERE_ENST00000377464.1_Missense_Mutation_p.R90W|RERE_ENST00000400908.2_Missense_Mutation_p.R358W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	358	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTGTCATCCCGAGAGGCTGCG	0.488																																																	0													211	212	212					1																	8555155		2203	4300	6503	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1072C>T	1.37:g.8555155G>A	ENSP00000338629:p.Arg358Trp		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.R358W	ENST00000337907.3	37	c.1072	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677670	0.68042	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400907;ENST00000400908	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.83	4.91	0.64330	ELM2 domain (1);	.	.	.	.	T	0.51109	0.1655	M	0.88450	2.955	0.80722	D	1	B;B	0.23128	0.08;0.008	B;B	0.15052	0.012;0.0	T	0.56637	-0.7946	9	0.87932	D	0	-12.5837	13.9613	0.64182	0.0743:0.0:0.9257:0.0	.	90;358	B1AKN3;Q9P2R6	.;RERE_HUMAN	W	358;90;358;358	ENSP00000338629:R358W;ENSP00000366684:R90W;ENSP00000383699:R358W;ENSP00000383700:R358W	ENSP00000338629:R358W	R	-	1	2	RERE	8477742	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.176000	0.65026	1.446000	0.47643	0.561000	0.74099	CGG	RERE	-	pfscan_ELM2_dom	ENSG00000142599		0.488	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	-	0	48	0	G			8555155	-1	tier1	-	no_errors	ENST00000337907	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	A	A	8555155	G	A	8555155	3	1	87	1	0	0	0	0	1	0	0	0	13276	1057	37	1	3684	1	RERE	1	8555155	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	135282	8555155	240695466	20	23144											
GPR157	80045	genome.wustl.edu	37	chr1	9165716	9165716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcctgggagaggatgggCcggtactcagagagtgccgt	7	8	17	9	2	1	2	1	0	0	2	2	5	2	3	3	4	3	2	3	4	1	1	rs372833072		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:9165716C>T	ENST00000377411.4	-	3	763	c.621G>A	c.(619-621)cgG>cgA	p.R207R	GPR157_ENST00000414642.2_Intron	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGATGGGCCGGTACTCAG	0.647																																																	0													72	59	63					1																	9165716		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022194	CCDS100.2	1p36.22	2012-08-21			ENSG00000180758	ENSG00000180758		"GPCR / Class B : Orphans"	23687	protein-coding gene	gene with protein product						10574461	Standard	XM_005263496		Approved	FLJ12132	uc001apq.1	Q5UAW9	OTTHUMG00000001758	ENST00000377411.4:c.621G>A	1.37:g.9165716C>T			A2A334|Q8WWB8|Q9HA73	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor	p.R207	ENST00000377411.4	37	c.621	CCDS100.2	1																																																																																			GPR157	-	pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfscan_GPCR_2-like	ENSG00000180758		0.647	GPR157-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR157	HGNC	protein_coding	OTTHUMT00000127658.2	-	0	37	0	C	NM_024980		9165716	-1	tier1	-	no_errors	ENST00000377411	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.968	T	T	9165716	C	T	9165716	2	4	87	1	0	0	0	0	0	0	0	1	6688	726	26	3		3	GPR157	1	9165716	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	610561	9165716	240084905	21	23145											
PIK3CD	5293	genome.wustl.edu	37	chr1	9780259	9780259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgctcatctgcctgcccGaggtggccccgcaccccgtg	3	7	11	20	3	2	0	1	0	1	0	2	1	2	0	7	2	3	2	7	2	0	0	rs572367173		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:9780259G>A	ENST00000377346.4	+	11	1624	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	PIK3CD_ENST00000361110.2_Missense_Mutation_p.E442K|PIK3CD_ENST00000543390.1_Missense_Mutation_p.E144K|PIK3CD_ENST00000536656.1_Missense_Mutation_p.E442K	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	477					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CTGCCTGCCCGAGGTGGCCCC	0.697													G|||	1	0.000199681	0	0	5008	,	,		15309	0		0	False		,,,				2504	0.001																0													33	33	33					1																	9780259		2203	4300	6503	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C"	602839	"phosphoinositide-3-kinase, catalytic, delta polypeptide"			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.1429G>A	1.37:g.9780259G>A	ENSP00000366563:p.Glu477Lys		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E442K	ENST00000377346.4	37	c.1324	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.054204	0.55218	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563;ENST00000543390	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.54	5.54	0.83059	C2 calcium/lipid-binding domain, CaLB (1);	0.108690	0.64402	D	0.000005	T	0.51363	0.1670	L	0.36672	1.1	0.35416	D	0.792848	B;P;P	0.47350	0.135;0.894;0.819	B;B;B	0.36335	0.019;0.217;0.222	T	0.60016	-0.7345	10	0.06236	T	0.91	-45.2038	10.5885	0.45296	0.1177:0.0:0.8823:0.0	.	477;442;477	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	K	442;477;442;442;144	ENSP00000446444:E442K;ENSP00000366563:E477K;ENSP00000354410:E442K;ENSP00000443811:E144K	ENSP00000353766:E442K	E	+	1	0	PIK3CD	9702846	1.000000	0.71417	0.976000	0.42696	0.570000	0.35934	5.429000	0.66495	2.618000	0.88619	0.462000	0.41574	GAG	PIK3CD	-	superfamily_C2_dom	ENSG00000171608		0.697	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	-	0	93	0	G	NM_005026		9780259	1	tier1	-	no_errors	ENST00000536656	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.998	A	A	9780259	G	A	9780259	3	1	87	1	0	0	0	0	1	0	0	0	11954	1059	37	1	1463	1	PIK3CD	1	9780259	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	614543	9780259	239470362	22	23146											
C1orf127	148345	genome.wustl.edu	37	chr1	11008750	11008750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggctccgaggggagcGtggctggaggtgtggggtgt	5	8	21	7	2	0	0	0	0	0	0	1	3	1	2	1	8	2	2	1	8	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:11008750G>A	ENST00000377008.4	-	11	1387	c.941C>T	c.(940-942)aCg>aTg	p.T314M	C1orf127_ENST00000377004.4_Missense_Mutation_p.T481M			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	314	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CGAGGGGAGCGTGGCTGGAGG	0.662																																																	0													41	47	45					1																	11008750		2203	4300	6503	SO:0001583	missense	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.941C>T	1.37:g.11008750G>A	ENSP00000366207:p.Thr314Met		A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	superfamily_DNA-bd_dom_put	p.T481M	ENST00000377008.4	37	c.1442		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.168344|2.168344	0.38315|0.38315	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.32515	.|1.45;1.45	4.67|4.67	-0.493|-0.493	0.12038|0.12038	.|.	.|0.891435	.|0.09430	.|N	.|0.803224	T|T	0.14313|0.14313	0.0346|0.0346	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.42961	.|0.795;0.795;0.795	.|B;B;B	.|0.27608	.|0.081;0.081;0.081	T|T	0.14364|0.14364	-1.0475|-1.0475	5|10	.|0.52906	.|T	.|0.07	0.1216|0.1216	6.8546|6.8546	0.24034|0.24034	0.5379:0.0:0.4621:0.0|0.5379:0.0:0.4621:0.0	.|.	.|332;306;314	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	C|M	316;433|481;314	.|ENSP00000366203:T481M;ENSP00000366207:T314M	.|ENSP00000366203:T481M	R|T	-|-	1|2	0|0	C1orf127|C1orf127	10931337|10931337	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.013000|0.013000	0.13310|0.13310	0.082000|0.082000	0.17018|0.17018	-0.339000|-0.339000	0.08088|0.08088	CGC|ACG	C1orf127	-	NULL	ENSG00000175262		0.662	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding		-	0	98	0	G	NM_173507		11008750	-1	tier1	-	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	34.29	69	36	SNP	0.000	A	A	11008750	G	A	11008750	3	1	87	1	0	0	0	0	1	0	0	0	2001	1145	40	1	1033	1	C1orf127	1	11008750	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1228491	11008750	238241871	23	23147											
CLCN6	1185	genome.wustl.edu	37	chr1	11883833	11883833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaaaggtgccaggaatcGtccgtctccggaccctgctc	7	8	12	14	4	1	0	0	0	1	0	5	2	2	2	4	3	2	2	4	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:11883833G>A	ENST00000346436.6	+	7	575	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.V175I|CLCN6_ENST00000312413.6_Missense_Mutation_p.V175I|CLCN6_ENST00000376487.3_Missense_Mutation_p.V153I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	175					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGGAATCGTCCGTCTCCG	0.547																																																	0													127	108	114					1																	11883833		2203	4300	6503	SO:0001583	missense	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.523G>A	1.37:g.11883833G>A	ENSP00000234488:p.Val175Ile		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.V175I	ENST00000346436.6	37	c.523	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.094498	0.94149	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34	5.97	5.97	0.96955	Chloride channel, core (2);	0.053496	0.85682	D	0.000000	D	0.95201	0.8444	M	0.70595	2.14	0.58432	D	0.99999	P;D;D;D;P	0.67145	0.912;0.985;0.992;0.996;0.929	B;B;P;P;B	0.54431	0.173;0.352;0.752;0.683;0.265	D	0.94929	0.8080	10	0.56958	D	0.05	-40.3584	17.5798	0.87963	0.0:0.0:1.0:0.0	.	153;175;175;175;175	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	I	175;175;153;175;175;175;175	ENSP00000308367:V175I;ENSP00000234488:V175I;ENSP00000365670:V153I;ENSP00000365679:V175I	ENSP00000308367:V175I	V	+	1	0	CLCN6	11806420	1.000000	0.71417	0.979000	0.43373	0.934000	0.57294	9.459000	0.97638	2.828000	0.97474	0.655000	0.94253	GTC	CLCN6	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000011021		0.547	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	-	0	98	0	G	NM_001286		11883833	1	tier1	-	no_errors	ENST00000346436	ensembl	human	known	74_37	missense	10.67	67	8	SNP	1.000	A	A	11883833	G	A	11883833	3	1	87	1	0	0	0	0	1	0	0	0	3474	1145	40	1	549	1	CLCN6	1	11883833	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	875083	11883833	237366788	24	23148											
MFN2	9927	genome.wustl.edu	37	chr1	12062115	12062115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagcagattgcagaggcggTtcgactcatcatggactccc	10	8	11	12	2	2	2	2	0	0	2	4	4	3	3	1	3	2	3	1	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:12062115T>A	ENST00000235329.5	+	11	1437	c.1115T>A	c.(1114-1116)gTt>gAt	p.V372D	MFN2_ENST00000444836.1_Missense_Mutation_p.V372D	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	372					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCAGAGGCGGTTCGACTCATC	0.592																																																	0													112	114	113					1																	12062115		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1115T>A	1.37:g.12062115T>A	ENSP00000235329:p.Val372Asp		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.V372D	ENST00000235329.5	37	c.1115	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888840	0.33348	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.96802	-4.13;-4.13	5.64	4.32	0.51571	.	0.147733	0.47852	D	0.000215	D	0.93494	0.7924	L	0.42245	1.32	0.51233	D	0.999912	B	0.32781	0.384	B	0.34385	0.181	D	0.93255	0.6638	10	0.72032	D	0.01	-24.5785	11.416	0.49951	0.0:0.0827:0.0:0.9173	.	372	O95140	MFN2_HUMAN	D	372;372;70	ENSP00000416338:V372D;ENSP00000235329:V372D	ENSP00000235329:V372D	V	+	2	0	MFN2	11984702	1.000000	0.71417	0.182000	0.23118	0.167000	0.22549	5.949000	0.70257	2.148000	0.66965	0.533000	0.62120	GTT	MFN2	-	superfamily_P-loop_NTPase	ENSG00000116688		0.592	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0	72	0	T	NM_014874		12062115	1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	28.79	47	19	SNP	0.465	A	A	12062115	T	A	12062115	3	1	87	1	0	0	0	0	1	0	0	0	9562	1725	60	5	1149	5	MFN2	1	12062115	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	178282	12062115	237188506	25	23149											
TNFRSF8	943	genome.wustl.edu	37	chr1	12195644	12195644	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctcttgctttttgcaGattccagacccaggaggagc	7	12	11	11	0	1	2	0	0	1	2	2	4	2	4	2	2	5	4	2	2	0	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:12195644G>T	ENST00000263932.2	+	13	1531		c.e13-1		TNFRSF8_ENST00000417814.2_Splice_Site|TNFRSF8_ENST00000479933.2_Splice_Site|TNFRSF8_ENST00000413146.2_Splice_Site	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8						cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GCTTTTTGCAGATTCCAGACC	0.572																																																	0													85	72	77					1																	12195644		2203	4300	6503	SO:0001630	splice_region_variant	0			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"Tumor necrosis factor receptor superfamily", "CD molecules"	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1310-1G>T	1.37:g.12195644G>T			B1AN79|B9EGD9|D3YTD8|Q6P4D9	Splice_Site	SNP	-	e13-1	ENST00000263932.2	37	c.1310-1	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.788173	0.49997	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4761	0.50300	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNFRSF8	12118231	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.072000	0.57563	2.164000	0.68074	0.297000	0.19635	.	TNFRSF8	-	-	ENSG00000120949		0.572	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	-	0	163	0	G		Intron	12195644	1	tier1	-	no_errors	ENST00000263932	ensembl	human	known	74_37	splice_site	11.03	121	15	SNP	1.000	T	T	12195644	G	T	12195644	5	4	87	1	0	0	0	0	0	0	1	0	16346	956	33	3	1359	3	TNFRSF8	1	12195644	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	133529	12195644	237054977	26	23150											
CTRC	11330	genome.wustl.edu	37	chr1	15766805	15766805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccccagcctccagctGtggggtgcccagcttcccgc	3	9	11	18	1	1	0	0	0	1	0	4	0	3	0	6	2	4	2	6	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:15766805G>A	ENST00000375949.4	+	2	76	c.50G>A	c.(49-51)tGt>tAt	p.C17Y	CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	17					proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCAGCTGTGGGGTGCCC	0.662																																																	0													13	15	14					1																	15766805		2196	4291	6487	SO:0001583	missense	0			BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"elastase 4"	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.50G>A	1.37:g.15766805G>A	ENSP00000365116:p.Cys17Tyr		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.C17Y	ENST00000375949.4	37	c.50	CCDS156.1	1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.229166	0.58777	.	.	ENSG00000162438	ENST00000375949	D	0.95035	-3.59	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);	0.047739	0.85682	D	0.000000	D	0.96617	0.8896	M	0.76328	2.33	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.63033	0.91;0.91	D	0.96755	0.9557	10	0.59425	D	0.04	-24.1554	16.898	0.86106	0.0:0.0:1.0:0.0	.	17;17	A8MTQ9;Q99895	.;CTRC_HUMAN	Y	17	ENSP00000365116:C17Y	ENSP00000365116:C17Y	C	+	2	0	CTRC	15639392	1.000000	0.71417	0.988000	0.46212	0.289000	0.27227	7.504000	0.81646	2.573000	0.86826	0.655000	0.94253	TGT	CTRC	-	superfamily_Trypsin-like_Pept_dom	ENSG00000162438		0.662	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRC	HGNC	protein_coding	OTTHUMT00000006435.1	-	0	67	0	G	NM_007272		15766805	1	tier1	-	no_errors	ENST00000375949	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	A	A	15766805	G	A	15766805	3	1	87	1	0	0	0	0	1	0	0	0	4036	1377	48	3	56	3	CTRC	1	15766805	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3571161	15766805	233483816	27	23151											
SPEN	23013	genome.wustl.edu	37	chr1	16260997	16260997	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatctggtggtgtaacGgccacaacaggcacggtgac	9	7	14	11	2	1	1	0	1	1	0	1	1	1	1	1	5	3	4	1	5	2	1	rs562468469		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:16260997G>T	ENST00000375759.3	+	11	8466	c.8262G>T	c.(8260-8262)acG>acT	p.T2754T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2754	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGGTGTAACGGCCACAACAG	0.577																																																	0													78	70	73					1																	16260997		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.8262G>T	1.37:g.16260997G>T			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.T2754	ENST00000375759.3	37	c.8262	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.577	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	-	0	53	0	G	NM_015001		16260997	1	tier1	-	no_errors	ENST00000375759	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.185	T	T	16260997	G	T	16260997	2	4	87	1	0	0	0	0	0	0	0	1	15085	1103	39	2		2	SPEN	1	16260997	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	494192	16260997	232989624	28	23152											
EPHA2	1969	genome.wustl.edu	37	chr1	16462258	16462258	+	Frame_Shift_Del	DEL	G	G	-																															cggccctccagcctcaccttGgggggctctgggcaggacag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:16462258delG	ENST00000358432.5	-	6	1474	c.1320delC	c.(1318-1320)cccfs	p.P440fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	440	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCCTCACCTTGGGGGGCTCTG	0.652																																																	0													26	27	27					1																	16462258		2202	4300	6502	SO:0001589	frameshift_variant	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1320delC	1.37:g.16462258delG	ENSP00000351209:p.Pro440fs		B5A968|Q8N3Z2	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K441fs	ENST00000358432.5	37	c.1320	CCDS169.1	1																																																																																			EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1		0	75	0	G	NM_004431		16462258	-1	tier1		no_errors	ENST00000358432	ensembl	human	known	74_37	frame_shift_del	11.11	48	6	DEL	1.000	-	-	16462258	G	-	16462258	7	5	87	1	0	1	0	1	0	0	0	0	5183	1335	47	0	1658	0	EPHA2	1	16462258	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	201261	16462258	232788363	29	23153											
CROCC	9696	genome.wustl.edu	37	chr1	17265554	17265554	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggccgttcaccccgcCgaggcccctccccggcctgc	3	4	12	22	5	1	0	1	0	0	0	2	2	2	0	10	3	1	1	10	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17265554C>T	ENST00000375541.5	+	12	1594	c.1525C>T	c.(1525-1527)Cga>Tga	p.R509*	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TTCACCCCGCCGAGGCCCCTC	0.741																																																	0													6	7	6					1																	17265554		1986	3871	5857	SO:0001587	stop_gained	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1525C>T	1.37:g.17265554C>T	ENSP00000364691:p.Arg509*			Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R509*	ENST00000375541.5	37	c.1525	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.544913	0.98348	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.0808	0.89440	0.0:1.0:0.0:0.0	.	.	.	.	X	509;390	.	ENSP00000364691:R509X	R	+	1	2	CROCC	17138141	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.622000	0.54217	2.702000	0.92279	0.561000	0.74099	CGA	CROCC	-	NULL	ENSG00000058453		0.741	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0	125	0	C	NM_014675		17265554	1	tier1	-	no_errors	ENST00000375541	ensembl	human	known	74_37	nonsense	13.68	101	16	SNP	1.000	T	T	17265554	C	T	17265554	4	4	87	1	0	0	0	0	0	1	0	0	3900	644	23	1	1571	1	CROCC	1	17265554	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	803296	17265554	231985067	30	23154											
CROCC	9696	genome.wustl.edu	37	chr1	17287269	17287269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccaggtagcccagcGgaagctgcaggaacaagaag	13	3	13	12	1	0	1	0	0	0	1	1	3	1	3	3	3	6	4	3	3	5	1	rs140278341		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17287269G>A	ENST00000375541.5	+	27	4118	c.4049G>A	c.(4048-4050)cGg>cAg	p.R1350Q		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GTAGCCCAGCGGAAGCTGCAG	0.667											OREG0013143	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG	1,4179		0,1,2089	8	8	8		4049	3.7	1	1	dbSNP_134	8	0,8238		0,0,4119	no	missense	CROCC	NM_014675.3	43	0,1,6208	AA,AG,GG		0.0,0.0239,0.0081	probably-damaging	1350/2018	17287269	1,12417	2090	4119	6209	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.4049G>A	1.37:g.17287269G>A	ENSP00000364691:p.Arg1350Gln	716		Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R1350Q	ENST00000375541.5	37	c.4049	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634411	0.67130	2.39E-4	0.0	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.61980	0.06	3.68	3.68	0.42216	.	.	.	.	.	T	0.62913	0.2467	L	0.43152	1.355	0.37456	D	0.915012	D;D	0.64830	0.994;0.994	P;P	0.53224	0.721;0.651	T	0.64170	-0.6470	9	0.26408	T	0.33	.	13.6993	0.62599	0.0:0.0:1.0:0.0	.	653;1350	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	Q	1350;1231	ENSP00000364691:R1350Q	ENSP00000364691:R1350Q	R	+	2	0	CROCC	17159856	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.788000	0.47806	1.975000	0.57531	0.491000	0.48974	CGG	CROCC	-	NULL	ENSG00000058453		0.667	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0	49	0	G	NM_014675		17287269	1	tier1	rs140278341	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	A	A	17287269	G	A	17287269	3	1	87	1	0	0	0	0	1	0	0	0	3900	1116	39	1	4155	1	CROCC	1	17287269	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	21715	17287269	231963352	31	23155											
CROCC	9696	genome.wustl.edu	37	chr1	17296892	17296892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagaagcgggaggtggagCgctcagccctgcggctggag	7	5	19	10	3	1	1	1	1	0	1	1	5	1	4	1	5	4	2	1	5	1	0	rs374780265		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17296892C>T	ENST00000375541.5	+	34	5665	c.5596C>T	c.(5596-5598)Cgc>Tgc	p.R1866C		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGAGGTGGAGCGCTCAGCCCT	0.677																																																	0								C	CYS/ARG	1,4235		0,1,2117	14	11	12		5596	5.2	1	1		12	0,8336		0,0,4168	no	missense	CROCC	NM_014675.3	180	0,1,6285	TT,TC,CC		0.0,0.0236,0.0080	probably-damaging	1866/2018	17296892	1,12571	2118	4168	6286	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5596C>T	1.37:g.17296892C>T	ENSP00000364691:p.Arg1866Cys			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.R1866C	ENST00000375541.5	37	c.5596	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143166	0.77888	2.36E-4	0.0	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.14266	2.52	5.17	5.17	0.71159	.	.	.	.	.	T	0.25494	0.0620	M	0.71206	2.165	0.58432	D	0.999999	D;D;D	0.63046	0.988;0.992;0.975	P;P;P	0.51742	0.579;0.678;0.656	T	0.00647	-1.1628	9	0.52906	T	0.07	.	11.6338	0.51192	0.1775:0.8225:0.0:0.0	.	1747;1169;1866	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	C	1866;1747	ENSP00000364691:R1866C	ENSP00000364691:R1866C	R	+	1	0	CROCC	17169479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.945000	0.40273	2.593000	0.87608	0.655000	0.94253	CGC	CROCC	-	NULL	ENSG00000058453		0.677	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0	98	0	C	NM_014675		17296892	1	tier1	-	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	16.30	77	15	SNP	1.000	T	T	17296892	C	T	17296892	3	4	87	1	0	0	0	0	1	0	0	0	3900	768	27	1	5730	1	CROCC	1	17296892	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	9623	17296892	231953729	32	23156											
ATP13A2	23400	genome.wustl.edu	37	chr1	17316221	17316221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacaccagctctgtcttCtgctcaggggccatgcgggc	5	9	12	15	2	4	0	1	0	3	0	5	0	4	0	2	3	3	3	2	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17316221C>A	ENST00000326735.8	-	23	2607	c.2574G>T	c.(2572-2574)caG>caT	p.Q858H	ATP13A2_ENST00000452699.1_Missense_Mutation_p.Q853H|ATP13A2_ENST00000341676.5_Missense_Mutation_p.Q814H|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	858				APEQ -> IPRA (in Ref. 8; CAA08912). {ECO:0000305}.	cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCTCTGTCTTCTGCTCAGGGG	0.642																																																	0													54	54	54					1																	17316221		2203	4300	6503	SO:0001583	missense	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"ATPases / P-type", "Parkinson disease"	30213	protein-coding gene	gene with protein product		610513	"Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2574G>T	1.37:g.17316221C>A	ENSP00000327214:p.Gln858His		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.Q858H	ENST00000326735.8	37	c.2574	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748452	0.69533	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000502418	T;T;T;D	0.99098	-0.36;-0.36;-0.36;-5.42	4.1	4.1	0.47936	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.98776	0.9588	L	0.46157	1.445	0.49483	D	0.999791	P;D;D	0.89917	0.951;1.0;1.0	P;D;D	0.91635	0.808;0.999;0.99	D	0.99327	1.0908	10	0.56958	D	0.05	-19.407	15.0623	0.71964	0.0:1.0:0.0:0.0	.	814;853;858	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	H	858;814;853;54	ENSP00000327214:Q858H;ENSP00000341115:Q814H;ENSP00000413307:Q853H;ENSP00000423065:Q54H	ENSP00000327214:Q858H	Q	-	3	2	ATP13A2	17188808	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.206000	0.58473	2.123000	0.65237	0.561000	0.74099	CAG	ATP13A2	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000159363		0.642	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	-	0	91	0	C	NM_022089		17316221	-1	tier1	-	no_errors	ENST00000326735	ensembl	human	known	74_37	missense	14.63	70	12	SNP	1.000	A	A	17316221	C	A	17316221	3	1	87	1	0	0	0	0	1	0	0	0	1125	912	32	3	1232	3	ATP13A2	1	17316221	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	19329	17316221	231934400	33	23157											
RCC2	55920	genome.wustl.edu	37	chr1	17749315	17749315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcaccatgtcccagctGccccttctcatttcgacctg	5	12	8	16	1	2	0	2	0	1	0	5	1	3	0	5	1	2	1	5	1	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:17749315G>T	ENST00000375436.4	-	5	728	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	RCC2_ENST00000375433.3_Missense_Mutation_p.Q181K	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	181					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TGTCCCAGCTGCCCCTTCTCA	0.542																																																	0													86	71	76					1																	17749315		2203	4300	6503	SO:0001583	missense	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.541C>A	1.37:g.17749315G>T	ENSP00000364585:p.Gln181Lys		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.Q181K	ENST00000375436.4	37	c.541	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022595	0.93462	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.90504	-2.68;-2.68	5.1	5.1	0.69264	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95959	0.8684	M	0.88031	2.925	0.80722	D	1	D	0.59357	0.985	D	0.73708	0.981	D	0.96187	0.9135	10	0.56958	D	0.05	-27.3107	17.4474	0.87581	0.0:0.0:1.0:0.0	.	181	Q9P258	RCC2_HUMAN	K	181	ENSP00000364585:Q181K;ENSP00000364582:Q181K	ENSP00000364582:Q181K	Q	-	1	0	RCC2	17621902	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.711000	0.98735	2.546000	0.85860	0.555000	0.69702	CAG	RCC2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	ENSG00000179051		0.542	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	-	0	67	0	G	NM_018715		17749315	-1	tier1	-	no_errors	ENST00000375433	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	T	T	17749315	G	T	17749315	3	4	87	1	0	0	0	0	1	0	0	0	13219	1328	46	3	1063	3	RCC2	1	17749315	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	433094	17749315	231501306	34	23158											
ACTL8	81569	genome.wustl.edu	37	chr1	18152879	18152879	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggatcacgtctcctcCaccaaggccacagtctggga	9	7	12	13	1	3	0	1	0	2	0	5	2	4	2	4	4	0	0	4	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:18152879C>A	ENST00000375406.1	+	3	1182	c.966C>A	c.(964-966)tcC>tcA	p.S322S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	322					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACGTCTCCTCCACCAAGGCCA	0.587											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74	80	78					1																	18152879		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"cancer/testis antigen 57"						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.966C>A	1.37:g.18152879C>A		723	Q13104|Q96M75	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.S322	ENST00000375406.1	37	c.966	CCDS183.1	1																																																																																			ACTL8	-	pfam_Actin-related,smart_Actin-related	ENSG00000117148		0.587	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	HGNC	protein_coding	OTTHUMT00000007143.1	-	0	62	0	C	NM_030812		18152879	1	tier1	-	no_errors	ENST00000375406	ensembl	human	known	74_37	silent	21.43	66	18	SNP	0.000	A	A	18152879	C	A	18152879	2	1	87	1	0	0	0	0	0	0	0	1	202	581	21	3		3	ACTL8	1	18152879	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	403564	18152879	231097742	35	23159											
MRTO4	51154	genome.wustl.edu	37	chr1	19585041	19585041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccccagagcaggctcgCgtcctggtgagtctggcgcc	5	7	14	15	3	1	3	0	2	1	1	3	3	2	3	4	3	1	2	4	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:19585041C>T	ENST00000330263.4	+	7	861	c.564C>T	c.(562-564)cgC>cgT	p.R188R		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	188					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGCTCGCGTCCTGGTGA	0.602																																					GBM(192;2418 3032 7540 48714)												0													108	108	108					1																	19585041		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)"	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.564C>T	1.37:g.19585041C>T			B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Silent	SNP	pfam_Ribosomal_L10/acidic_P0	p.R188	ENST00000330263.4	37	c.564	CCDS191.1	1																																																																																			MRTO4	-	NULL	ENSG00000053372		0.602	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRTO4	HGNC	protein_coding	OTTHUMT00000007075.2	-	0	69	0	C	NM_016183		19585041	1	tier1	-	no_errors	ENST00000330263	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.000	T	T	19585041	C	T	19585041	2	4	87	1	0	0	0	0	0	0	0	1	9890	755	27	1		1	MRTO4	1	19585041	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1432162	19585041	229665580	36	23160											
FAM43B	163933	genome.wustl.edu	37	chr1	20879658	20879658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccggcgccagaaagtggaGctcaacaaggaggacccgac	13	2	14	12	3	1	1	1	0	0	1	1	5	1	4	3	4	3	1	3	4	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:20879658G>A	ENST00000332947.4	+	1	727	c.192G>A	c.(190-192)gaG>gaA	p.E64E		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	64										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		AGAAAGTGGAGCTCAACAAGG	0.692																																																	0													55	54	54					1																	20879658		2203	4300	6503	SO:0001819	synonymous_variant	0			AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.192G>A	1.37:g.20879658G>A			A5PKT8|A5PL01	Silent	SNP	smart_PTB/PI_dom	p.E64	ENST00000332947.4	37	c.192	CCDS209.1	1																																																																																			FAM43B	-	NULL	ENSG00000183114		0.692	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM43B	HGNC	protein_coding	OTTHUMT00000127759.1	-	0	64	0	G	NM_207334		20879658	1	tier1	-	no_errors	ENST00000332947	ensembl	human	known	74_37	silent	8.00	46	4	SNP	1.000	A	A	20879658	G	A	20879658	2	1	87	1	0	0	0	0	0	0	0	1	5585	962	34	3		3	FAM43B	1	20879658	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1294617	20879658	228370963	37	23161											
ALPL	249	genome.wustl.edu	37	chr1	21894731	21894731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctggaagagcttcaaaccGagatacaaggtagcctgtgc	13	7	11	10	1	1	2	1	0	0	2	1	4	1	3	3	2	5	2	3	2	5	3	rs537483743		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:21894731G>A	ENST00000374840.3	+	7	1033	c.783G>A	c.(781-783)ccG>ccA	p.P261P	ALPL_ENST00000539907.1_Silent_p.P184P|ALPL_ENST00000540617.1_Silent_p.P206P|ALPL_ENST00000425315.2_Silent_p.P261P|ALPL_ENST00000374830.1_5'Flank|ALPL_ENST00000374832.1_Silent_p.P261P	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	261					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GCTTCAAACCGAGATACAAGG	0.562													G|||	1	0.000199681	8e-04	0	5008	,	,		18560	0		0	False		,,,				2504	0																0													74	67	69					1																	21894731		2203	4300	6503	SO:0001819	synonymous_variant	0			BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.783G>A	1.37:g.21894731G>A			A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.P261	ENST00000374840.3	37	c.783	CCDS217.1	1																																																																																			ALPL	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000162551		0.562	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	HGNC	protein_coding	OTTHUMT00000008202.1	-	0	52	0	G	NM_000478		21894731	1	tier1	-	no_errors	ENST00000374832	ensembl	human	known	74_37	silent	24.62	49	16	SNP	0.003	A	A	21894731	G	A	21894731	2	1	87	1	0	0	0	0	0	0	0	1	547	1045	37	1		1	ALPL	1	21894731	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1015073	21894731	227355890	38	23162											
HSPG2	3339	genome.wustl.edu	37	chr1	22161279	22161279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgggcgatcctgacgacaCctccgctctgcacaatgcct	7	8	10	16	4	1	1	0	1	1	0	3	3	3	1	4	1	2	2	4	1	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22161279C>T	ENST00000374695.3	-	77	10692	c.10613G>A	c.(10612-10614)gGt>gAt	p.G3538D		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3538	Ig-like C2-type 21.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCTGACGACACCTCCGCTCTG	0.622																																																	0													108	76	87					1																	22161279		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.10613G>A	1.37:g.22161279C>T	ENSP00000363827:p.Gly3538Asp		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G3538D	ENST00000374695.3	37	c.10613	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399421	0.42512	.	.	ENSG00000142798	ENST00000374695;ENST00000426143	D;T	0.81739	-1.53;-0.22	4.89	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.512614	0.15448	N	0.261803	D	0.84288	0.5439	M	0.66378	2.025	0.30070	N	0.81014	P;P	0.48503	0.911;0.739	P;B	0.56216	0.794;0.403	T	0.79507	-0.1775	10	0.51188	T	0.08	.	9.4009	0.38431	0.0:0.8238:0.0:0.1762	.	1478;3538	Q59EG0;P98160	.;PGBM_HUMAN	D	3538;90	ENSP00000363827:G3538D;ENSP00000392022:G90D	ENSP00000363827:G3538D	G	-	2	0	HSPG2	22033866	0.879000	0.30193	0.016000	0.15963	0.035000	0.12851	2.966000	0.49208	1.049000	0.40321	0.313000	0.20887	GGT	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	42	0	C	NM_005529		22161279	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.937	T	T	22161279	C	T	22161279	3	4	87	1	0	0	0	0	1	0	0	0	7457	507	18	3	2646	3	HSPG2	1	22161279	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	266548	22161279	227089342	39	23163											
HSPG2	3339	genome.wustl.edu	37	chr1	22205107	22205107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtagcctggggcacaggCgtcacatgtggcttggccat	7	9	15	10	1	1	0	1	0	0	0	1	0	1	0	2	5	1	3	2	5	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22205107C>T	ENST00000374695.3	-	19	2600	c.2521G>A	c.(2521-2523)Gcc>Acc	p.A841T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	841	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGGCACAGGCGTCACATGTG	0.627																																																	0													54	54	54					1																	22205107		2203	4299	6502	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2521G>A	1.37:g.22205107C>T	ENSP00000363827:p.Ala841Thr		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.A841T	ENST00000374695.3	37	c.2521	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478364	0.63849	.	.	ENSG00000142798	ENST00000374695	T	0.63255	-0.03	5.44	4.53	0.55603	EGF-like, laminin (4);	0.000000	0.37669	N	0.001985	T	0.73125	0.3547	M	0.64997	1.995	0.42735	D	0.993726	D	0.89917	1.0	D	0.85130	0.997	T	0.73871	-0.3846	10	0.54805	T	0.06	.	8.3284	0.32171	0.0:0.8233:0.0:0.1767	.	841	P98160	PGBM_HUMAN	T	841	ENSP00000363827:A841T	ENSP00000363827:A841T	A	-	1	0	HSPG2	22077694	0.994000	0.37717	0.094000	0.20943	0.891000	0.51852	3.275000	0.51639	1.285000	0.44548	0.555000	0.69702	GCC	HSPG2	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom	ENSG00000142798		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	108	0	C	NM_005529		22205107	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	36.84	60	35	SNP	0.910	T	T	22205107	C	T	22205107	3	4	87	1	0	0	0	0	1	0	0	0	7457	768	27	1	10970	1	HSPG2	1	22205107	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	43828	22205107	227045514	40	23164											
EPHA8	2046	genome.wustl.edu	37	chr1	22915633	22915633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggatcgaggccgtcaatGgcgtgtccgacctgagcccc	6	8	13	14	4	2	1	1	1	1	0	4	4	3	2	5	3	1	0	5	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22915633G>A	ENST00000166244.3	+	5	1321	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	EPHA8_ENST00000538803.1_Missense_Mutation_p.G417S|EPHA8_ENST00000374644.4_Missense_Mutation_p.G417S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	417	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCGTCAATGGCGTGTCCGA	0.662																																																	0													32	29	30					1																	22915633		2203	4298	6501	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1249G>A	1.37:g.22915633G>A	ENSP00000166244:p.Gly417Ser		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G417S	ENST00000166244.3	37	c.1249	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810681	0.90707	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.60548	0.18;0.18;0.18	4.52	4.52	0.55395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.069540	0.56097	D	0.000028	T	0.72566	0.3476	M	0.69248	2.105	0.58432	D	0.999998	B;D	0.71674	0.003;0.998	B;D	0.65323	0.015;0.934	T	0.76484	-0.2942	10	0.87932	D	0	.	16.3069	0.82852	0.0:0.0:1.0:0.0	.	417;417	P29322;P29322-2	EPHA8_HUMAN;.	S	417	ENSP00000166244:G417S;ENSP00000363775:G417S;ENSP00000440274:G417S	ENSP00000166244:G417S	G	+	1	0	EPHA8	22788220	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	9.500000	0.97977	2.498000	0.84270	0.436000	0.28706	GGC	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000070886		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	-	0	76	0	G	NM_020526		22915633	1	tier1	-	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	A	A	22915633	G	A	22915633	3	1	87	1	0	0	0	0	1	0	0	0	5189	1348	47	3	1267	3	EPHA8	1	22915633	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	710526	22915633	226334988	41	23165											
C1QC	714	genome.wustl.edu	37	chr1	22973962	22973962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgatcagattcaacGcggtcctcaccaacccgcag	11	6	8	16	3	3	2	3	1	0	1	4	2	4	2	4	1	3	1	4	1	2	1	rs147904988	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:22973962G>A	ENST00000374639.3	+	3	542	c.424G>A	c.(424-426)Gcg>Acg	p.A142T	C1QC_ENST00000374637.1_Missense_Mutation_p.A142T|C1QC_ENST00000374640.4_Missense_Mutation_p.A142T	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	142	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGATTCAACGCGGTCCTCAC	0.567																																					Ovarian(26;671 750 8290 29071 43278)												0								G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	84	80	81		424,424	-9.5	0	1	dbSNP_134	81	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	C1QC	NM_001114101.1,NM_172369.3	58,58	0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461	benign,benign	142/246,142/246	22973962	6,13000	2203	4300	6503	SO:0001583	missense	0			AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"Complement system"	1245	protein-coding gene	gene with protein product		120575	"complement component 1, q subcomponent, gamma polypeptide"	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.424G>A	1.37:g.22973962G>A	ENSP00000363770:p.Ala142Thr		Q7Z502|Q96DL2|Q96H05	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.A142T	ENST00000374639.3	37	c.424	CCDS227.1	1	.	.	.	.	.	.	.	.	.	.	G	0.838	-0.743054	0.03088	4.54E-4	4.65E-4	ENSG00000159189	ENST00000374640;ENST00000374639;ENST00000374637	T;T;T	0.74526	-0.85;-0.85;-0.85	4.74	-9.48	0.00591	Tumour necrosis factor-like (2);Complement C1q protein (4);	2.595320	0.02172	N	0.059739	T	0.26593	0.0650	N	0.00092	-2.175	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.52245	-0.8601	10	0.29301	T	0.29	.	1.1615	0.01807	0.2688:0.1053:0.3031:0.3229	.	142	P02747	C1QC_HUMAN	T	142	ENSP00000363771:A142T;ENSP00000363770:A142T;ENSP00000363768:A142T	ENSP00000363768:A142T	A	+	1	0	C1QC	22846549	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.018000	0.03626	-2.969000	0.00287	-1.683000	0.00735	GCG	C1QC	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000159189		0.567	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QC	HGNC	protein_coding	OTTHUMT00000008083.1	-	0	48	0	G	NM_172369		22973962	1	tier1	rs147904988	no_errors	ENST00000374637	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.002	A	A	22973962	G	A	22973962	3	1	87	1	0	0	0	0	1	0	0	0	1964	1087	38	1	430	1	C1QC	1	22973962	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	58329	22973962	226276659	42	23166											
LUZP1	7798	genome.wustl.edu	37	chr1	23418182	23418182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatctgccattctctccGcttctgcaagctgcagggtg	5	11	10	15	1	3	0	0	0	3	0	5	0	4	0	3	1	4	4	3	1	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:23418182G>A	ENST00000302291.4	-	4	3374	c.2573C>T	c.(2572-2574)gCg>gTg	p.A858V	LUZP1_ENST00000314174.5_Missense_Mutation_p.A858V|LUZP1_ENST00000418342.1_Missense_Mutation_p.A858V|LUZP1_ENST00000374623.3_Missense_Mutation_p.A858V			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	858					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CATTCTCTCCGCTTCTGCAAG	0.537																																																	0													100	97	98					1																	23418182		2203	4300	6503	SO:0001583	missense	0			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2573C>T	1.37:g.23418182G>A	ENSP00000303758:p.Ala858Val		Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	NULL	p.A858V	ENST00000302291.4	37	c.2573	CCDS30628.1	1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598691	0.46318	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15718	2.61;2.61;2.61;2.4	5.28	4.36	0.52297	.	0.440276	0.19200	N	0.120202	T	0.18882	0.0453	L	0.57536	1.79	0.22531	N	0.999014	B;B	0.19706	0.038;0.038	B;B	0.12156	0.007;0.007	T	0.13176	-1.0519	10	0.56958	D	0.05	.	11.0831	0.48072	0.0858:0.0:0.9142:0.0	.	858;858	Q86V48-2;Q86V48	.;LUZP1_HUMAN	V	858	ENSP00000393460:A858V;ENSP00000363752:A858V;ENSP00000303758:A858V;ENSP00000313705:A858V	ENSP00000303758:A858V	A	-	2	0	LUZP1	23290769	0.002000	0.14202	0.018000	0.16275	0.854000	0.48673	1.150000	0.31639	1.239000	0.43787	0.485000	0.47835	GCG	LUZP1	-	NULL	ENSG00000169641		0.537	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	-	0	35	0	G	NM_033631		23418182	-1	tier1	-	no_errors	ENST00000302291	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.637	A	A	23418182	G	A	23418182	3	1	87	1	0	0	0	0	1	0	0	0	9121	1087	38	1	665	1	LUZP1	1	23418182	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	444220	23418182	225832439	43	23167											
E2F2	1870	genome.wustl.edu	37	chr1	23845519	23845519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctctcacctcagtcctgtCgggcacttccagtctcgtct	4	12	7	18	2	4	0	2	0	3	0	9	0	6	0	4	1	0	1	4	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:23845519C>T	ENST00000361729.2	-	5	1267	c.841G>A	c.(841-843)Gac>Aac	p.D281N	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	281	Dimerization. {ECO:0000255}.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		TCAGTCCTGTCGGGCACTTCC	0.582																																																	0													78	68	72					1																	23845519		2203	4300	6503	SO:0001583	missense	0			L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.841G>A	1.37:g.23845519C>T	ENSP00000355249:p.Asp281Asn		B2R9W1|Q7Z6H1	Missense_Mutation	SNP	pfam_E2F_TDP	p.D281N	ENST00000361729.2	37	c.841	CCDS236.1	1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040368	0.93630	.	.	ENSG00000007968	ENST00000361729	D	0.85556	-2.0	6.07	6.07	0.98685	.	0.301725	0.34725	N	0.003734	D	0.91365	0.7276	M	0.69823	2.125	0.50813	D	0.999893	D	0.76494	0.999	P	0.61275	0.886	D	0.91219	0.5005	10	0.66056	D	0.02	-17.8311	19.2232	0.93806	0.0:1.0:0.0:0.0	.	281	Q14209	E2F2_HUMAN	N	281	ENSP00000355249:D281N	ENSP00000355249:D281N	D	-	1	0	E2F2	23718106	1.000000	0.71417	0.601000	0.28877	0.689000	0.40095	7.767000	0.85331	2.885000	0.99019	0.650000	0.86243	GAC	E2F2	-	NULL	ENSG00000007968		0.582	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F2	HGNC	protein_coding	OTTHUMT00000008885.1	-	0	34	0	C	NM_004091		23845519	-1	tier1	-	no_errors	ENST00000361729	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.998	T	T	23845519	C	T	23845519	3	4	87	1	0	0	0	0	1	0	0	0	4881	884	31	1	484	1	E2F2	1	23845519	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	427337	23845519	225405102	44	23168											
MYOM3	127294	genome.wustl.edu	37	chr1	24433677	24433677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacccgcttctgccctcgCtcctccagctccacggcaga	5	7	7	22	3	1	1	0	0	1	1	5	1	4	1	6	1	2	4	6	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:24433677C>A	ENST00000374434.3	-	4	450	c.288G>T	c.(286-288)gaG>gaT	p.E96D	MYOM3_ENST00000330966.7_Missense_Mutation_p.E97D|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.E96D	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	96						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TCTGCCCTCGCTCCTCCAGCT	0.672																																																	0													29	32	31					1																	24433677		1996	4178	6174	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.288G>T	1.37:g.24433677C>A	ENSP00000363557:p.Glu96Asp		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E97D	ENST00000374434.3	37	c.291	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.993144	0.54041	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.54675	0.57;0.57;0.56	4.98	4.05	0.47172	.	0.433164	0.23209	N	0.050687	T	0.33990	0.0882	N	0.14661	0.345	0.24800	N	0.992704	B;B	0.32467	0.372;0.231	B;B	0.32677	0.15;0.107	T	0.21042	-1.0257	10	0.33940	T	0.23	.	11.4549	0.50176	0.0:0.9075:0.0:0.0925	.	96;96	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	D	96;97;96	ENSP00000363557:E96D;ENSP00000332670:E97D;ENSP00000328415:E96D	ENSP00000328415:E96D	E	-	3	2	MYOM3	24306264	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.824000	0.39072	2.462000	0.83206	0.561000	0.74099	GAG	MYOM3	-	NULL	ENSG00000142661		0.672	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	-	0	54	0	C	NM_152372		24433677	-1	tier1	-	no_errors	ENST00000330966	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	A	A	24433677	C	A	24433677	3	1	87	1	0	0	0	0	1	0	0	0	10131	796	28	3	4161	3	MYOM3	1	24433677	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	588158	24433677	224816944	45	23169											
LDLRAP1	26119	genome.wustl.edu	37	chr1	25893406	25893406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaggacatgcattacGcccagtgcctctcgcctgtc	7	8	9	17	2	1	0	0	0	1	0	3	1	1	1	4	1	4	1	4	1	1	1	rs144622500		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:25893406G>A	ENST00000374338.4	+	9	969	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	284					amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		CATGCATTACGCCCAGTGCCT	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		15571	0		0	False		,,,				2504	0																0								G	THR/ALA	0,4406		0,0,2203	49	39	42		850	4.6	1	1	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LDLRAP1	NM_015627.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	284/309	25893406	1,13005	2203	4300	6503	SO:0001583	missense	0			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.850G>A	1.37:g.25893406G>A	ENSP00000363458:p.Ala284Thr		A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A284T	ENST00000374338.4	37	c.850	CCDS30639.1	1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973577	0.53720	0.0	1.16E-4	ENSG00000157978	ENST00000374338	T	0.55588	0.51	5.54	4.61	0.57282	.	0.241239	0.41097	D	0.000942	T	0.42494	0.1205	L	0.43152	1.355	0.30034	N	0.813179	B;B	0.20052	0.041;0.041	B;B	0.13407	0.009;0.009	T	0.41288	-0.9517	10	0.38643	T	0.18	-24.2729	9.4353	0.38635	0.0795:0.147:0.7735:0.0	.	284;284	B3KR97;Q5SW96	.;ARH_HUMAN	T	284	ENSP00000363458:A284T	ENSP00000363458:A284T	A	+	1	0	LDLRAP1	25765993	1.000000	0.71417	0.977000	0.42913	0.808000	0.45660	6.496000	0.73670	1.297000	0.44761	0.561000	0.74099	GCC	LDLRAP1	-	NULL	ENSG00000157978		0.637	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	-	0	73	0	G	NM_015627		25893406	1	tier1	rs144622500	no_errors	ENST00000374338	ensembl	human	known	74_37	missense	21.43	44	12	SNP	0.986	A	A	25893406	G	A	25893406	3	1	87	1	0	0	0	0	1	0	0	0	8736	1087	38	1	884	1	LDLRAP1	1	25893406	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1459729	25893406	223357215	46	23170											
SEPN1	57190	genome.wustl.edu	37	chr1	26136236	26136236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggttctcccctgctcAgttcaccggccacatcatcc	5	13	6	17	1	4	0	3	0	1	0	6	0	5	0	5	2	1	3	5	2	0	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:26136236A>G	ENST00000374315.1	+	6	871	c.833A>G	c.(832-834)cAg>cGg	p.Q278R	SEPN1_ENST00000361547.2_Missense_Mutation_p.Q312R|SEPN1_ENST00000354177.4_Missense_Mutation_p.Q278R	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	312						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCTGCTCAGTTCACCGGC	0.637																																																	0													110	127	121					1																	26136236		2137	4239	6376	SO:0001583	missense	0			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"EF-hand domain containing"	15999	protein-coding gene	gene with protein product		606210	"rigid spine muscular dystrophy 1"	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.833A>G	1.37:g.26136236A>G	ENSP00000363434:p.Gln278Arg		A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.Q278R	ENST00000374315.1	37	c.833	CCDS41283.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382140	0.82792	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.91068	-2.74;-2.78;-2.78	4.84	4.84	0.62591	.	0.054826	0.85682	D	0.000000	D	0.91338	0.7268	M	0.74258	2.255	0.58432	D	0.999999	P;P	0.48294	0.908;0.851	P;B	0.45753	0.492;0.297	D	0.92633	0.6118	10	0.87932	D	0	-28.0987	14.5789	0.68271	1.0:0.0:0.0:0.0	.	278;312	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	R	312;278;278	ENSP00000355141:Q312R;ENSP00000346109:Q278R;ENSP00000363434:Q278R	ENSP00000346109:Q278R	Q	+	2	0	SEPN1	26008823	1.000000	0.71417	1.000000	0.80357	0.603000	0.37013	9.107000	0.94261	2.044000	0.60594	0.379000	0.24179	CAG	SEPN1	-	NULL	ENSG00000162430		0.637	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SEPN1	HGNC	protein_coding	OTTHUMT00000019315.2	-	0	47	0	A	NM_020451		26136236	1	tier1	-	no_errors	ENST00000354177	ensembl	human	known	74_37	missense	14.81	46	8	SNP	1.000	G	G	26136236	A	G	26136236	3	3	87	1	0	0	0	0	1	0	0	0	14101	188	7	4	961	4	SEPN1	1	26136236	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	242830	26136236	223114385	47	23171											
SLC9A1	6548	genome.wustl.edu	37	chr1	27429000	27429000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggctccttggagcgctCgccagctatcagacacttct	6	10	11	14	2	2	1	1	0	1	1	4	2	3	2	2	3	2	3	2	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:27429000C>T	ENST00000263980.3	-	8	2271	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Missense_Mutation_p.E227K	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	566					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTGGAGCGCTCGCCAGCTATC	0.582											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													101	106	104					1																	27429000		2203	4300	6503	SO:0001583	missense	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"Solute carriers"	11071	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 143"	107310	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)", "solute carrier family 9 (sodium/hydrogen exchanger), member 1"	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.1696G>A	1.37:g.27429000C>T	ENSP00000263980:p.Glu566Lys	794	B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E566K	ENST00000263980.3	37	c.1696	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.626083	0.96671	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949	T;T	0.45276	0.9;1.48	5.04	5.04	0.67666	.	0.048638	0.85682	D	0.000000	T	0.42086	0.1187	L	0.55103	1.725	0.80722	D	1	B	0.26975	0.165	B	0.24848	0.056	T	0.30119	-0.9989	10	0.41790	T	0.15	.	18.1634	0.89717	0.0:1.0:0.0:0.0	.	566	P19634	SL9A1_HUMAN	K	566;70;227	ENSP00000263980:E566K;ENSP00000445520:E227K	ENSP00000263980:E566K	E	-	1	0	SLC9A1	27301587	1.000000	0.71417	0.982000	0.44146	0.969000	0.65631	4.633000	0.61318	2.623000	0.88846	0.561000	0.74099	GAG	SLC9A1	-	tigrfam_NaH_exchanger	ENSG00000090020		0.582	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	-	0	45	0	C	NM_003047		27429000	-1	tier1	-	no_errors	ENST00000263980	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	T	T	27429000	C	T	27429000	3	4	87	1	0	0	0	0	1	0	0	0	14754	893	31	1	771	1	SLC9A1	1	27429000	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1292764	27429000	221821621	48	23172											
OPRD1	4985	genome.wustl.edu	37	chr1	29189683	29189683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgccagctctgccgcaagcCctgcggccgcccagacccca	6	3	10	22	4	1	1	0	0	1	1	1	1	1	1	8	1	4	2	8	1	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:29189683C>A	ENST00000234961.2	+	3	1249	c.1007C>A	c.(1006-1008)cCc>cAc	p.P336H		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	336					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGCCGCAAGCCCTGCGGCCGC	0.701																																																	0													12	12	12					1																	29189683		2194	4297	6491	SO:0001583	missense	0			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"GPCR / Class A : Opioid receptors"	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.1007C>A	1.37:g.29189683C>A	ENSP00000234961:p.Pro336His		B5B0B8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt	p.P336H	ENST00000234961.2	37	c.1007	CCDS329.1	1	.	.	.	.	.	.	.	.	.	.	C	6.044	0.376538	0.11466	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.37058	1.22	4.06	3.12	0.35913	.	0.068881	0.64402	D	0.000015	T	0.21062	0.0507	N	0.22421	0.69	0.26327	N	0.97758	B	0.06786	0.001	B	0.06405	0.002	T	0.07139	-1.0788	10	0.41790	T	0.15	.	6.4772	0.22043	0.0:0.7809:0.0:0.2191	.	336	P41143	OPRD_HUMAN	H	336;288	ENSP00000234961:P336H	ENSP00000234961:P336H	P	+	2	0	OPRD1	29062270	1.000000	0.71417	0.994000	0.49952	0.875000	0.50365	2.724000	0.47285	2.097000	0.63578	0.462000	0.41574	CCC	OPRD1	-	prints_Delta_opi_rcpt	ENSG00000116329		0.701	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRD1	HGNC	protein_coding	OTTHUMT00000010330.1	-	0	33	0	C	NM_000911		29189683	1	tier1	-	no_errors	ENST00000234961	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.775	A	A	29189683	C	A	29189683	3	1	87	1	0	0	0	0	1	0	0	0	10923	623	22	3	1017	3	OPRD1	1	29189683	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1760683	29189683	220060938	49	23173											
TMEM200B	399474	genome.wustl.edu	37	chr1	29447700	29447700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaggcaggtaaccccaagCgaggattagcgggctctgaa	12	5	14	10	2	1	1	0	1	1	0	1	3	1	2	2	4	3	4	2	4	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:29447700C>T	ENST00000420504.2	-	2	798	c.641G>A	c.(640-642)cGc>cAc	p.R214H	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R214H	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	214	Pro-rich.					integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TAACCCCAAGCGAGGATTAGC	0.657																																																	0													26	28	28					1																	29447700		2203	4300	6503	SO:0001583	missense	0				CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.641G>A	1.37:g.29447700C>T	ENSP00000428544:p.Arg214His		Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.R214H	ENST00000420504.2	37	c.641	CCDS30658.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113712	0.77210	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	3.84	3.84	0.44239	.	0.453943	0.16964	U	0.192369	T	0.22742	0.0549	N	0.14661	0.345	0.31181	N	0.702019	P	0.39624	0.681	B	0.23852	0.049	T	0.20907	-1.0261	9	0.42905	T	0.14	.	15.2578	0.73599	0.0:1.0:0.0:0.0	.	214	Q69YZ2	T200B_HUMAN	H	214	.	ENSP00000428544:R214H	R	-	2	0	TMEM200B	29320287	0.001000	0.12720	1.000000	0.80357	0.959000	0.62525	0.468000	0.22051	2.123000	0.65237	0.655000	0.94253	CGC	TMEM200B	-	NULL	ENSG00000253304		0.657	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM200B	HGNC	protein_coding	OTTHUMT00000010377.2	-	0	53	0	C	NM_001003682		29447700	-1	tier1	-	no_errors	ENST00000420504	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.998	T	T	29447700	C	T	29447700	3	4	87	1	0	0	0	0	1	0	0	0	16171	768	27	1	286	1	TMEM200B	1	29447700	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	258017	29447700	219802921	50	23174											
SDC3	9672	genome.wustl.edu	37	chr1	31351475	31351475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggggggtacttacagcccGagcccgaccccgagtagagg	9	4	16	12	3	0	1	0	0	0	1	0	5	0	1	4	4	4	2	4	4	3	3	rs549486633		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:31351475G>A	ENST00000339394.6	-	2	425	c.251C>T	c.(250-252)tCg>tTg	p.S84L	SDC3_ENST00000471567.1_5'UTR|SDC3_ENST00000336798.7_5'UTR	NM_014654.3	NP_055469.3	O75056	SDC3_HUMAN	syndecan 3	84					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S84L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CTTACAGCCCGAGCCCGACCC	0.607													G|||	1	0.000199681	0	0	5008	,	,		18625	0		0.001	False		,,,				2504	0																1	Substitution - Missense(1)	large_intestine(1)											88	81	83					1																	31351475		2203	4300	6503	SO:0001583	missense	0			AF248634	CCDS30661.1	1p35.2	2013-09-19	2007-02-15		ENSG00000162512	ENSG00000162512		"Proteoglycans / Cell Surface : Syndecans"	10660	protein-coding gene	gene with protein product	"syndecan proteoglycan 3"	186357	"syndecan 3 (N-syndecan)"			1556152, 11527150	Standard	NM_014654		Approved	N-syndecan, SYND3	uc001bse.2	O75056	OTTHUMG00000043646	ENST00000339394.6:c.251C>T	1.37:g.31351475G>A	ENSP00000344468:p.Ser84Leu		Q5T1Z6|Q5T1Z7|Q96CT3|Q96PR8	Missense_Mutation	SNP	pfam_Syndecan/Neurexin_dom,smart_Neurexin-like	p.S84L	ENST00000339394.6	37	c.251	CCDS30661.1	1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664935	0.67700	.	.	ENSG00000162512	ENST00000339394	T	0.33216	1.42	5.01	5.01	0.66863	.	0.251943	0.27927	N	0.017296	T	0.45296	0.1335	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.49707	-0.8911	10	0.87932	D	0	-12.5059	18.3315	0.90271	0.0:0.0:1.0:0.0	.	84	O75056	SDC3_HUMAN	L	84	ENSP00000344468:S84L	ENSP00000344468:S84L	S	-	2	0	SDC3	31124062	1.000000	0.71417	0.998000	0.56505	0.570000	0.35934	6.861000	0.75478	2.339000	0.79563	0.561000	0.74099	TCG	SDC3	-	pfam_Syndecan/Neurexin_dom	ENSG00000162512		0.607	SDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC3	HGNC	protein_coding	OTTHUMT00000102017.1	-	0	42	0	G	NM_014654		31351475	-1	tier1	-	no_errors	ENST00000339394	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	A	A	31351475	G	A	31351475	3	1	87	1	0	0	0	0	1	0	0	0	13998	1059	37	1	1093	1	SDC3	1	31351475	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1903775	31351475	217899146	51	23175											
BAI2	576	genome.wustl.edu	37	chr1	32207741	32207741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccacgctgcacttccGgctgcgctgttgggtcccat	3	9	12	17	4	0	0	0	0	0	0	2	0	2	0	4	2	2	5	4	2	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:32207741G>A	ENST00000373658.3	-	8	1671	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	BAI2_ENST00000398538.1_Missense_Mutation_p.R432W|BAI2_ENST00000398542.1_Missense_Mutation_p.R377W|BAI2_ENST00000440175.2_Missense_Mutation_p.R86W|BAI2_ENST00000398547.1_Missense_Mutation_p.R377W|BAI2_ENST00000527361.1_Missense_Mutation_p.R444W|BAI2_ENST00000257070.4_Missense_Mutation_p.R444W|BAI2_ENST00000398556.3_Missense_Mutation_p.R392W|BAI2_ENST00000373655.2_Missense_Mutation_p.R444W	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	444	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCACTTCCGGCTGCGCTGT	0.667																																																	0													36	40	39					1																	32207741		2203	4300	6503	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"-", "GPCR / Class B : Orphans"	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1330C>T	1.37:g.32207741G>A	ENSP00000362762:p.Arg444Trp		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R444W	ENST00000373658.3	37	c.1330	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673694	0.67928	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	4.1	4.1	0.47936	.	0.233514	0.22322	N	0.061587	D	0.83385	0.5243	H	0.95079	3.62	0.46927	D	0.999258	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D	0.86910	0.2060	10	0.87932	D	0	.	10.9539	0.47345	0.0:0.0:0.8126:0.1874	.	377;444;432;86;377;444;444	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	W	392;377;444;444;377;444;444;86;432;382;423	ENSP00000381564:R392W;ENSP00000381555:R377W;ENSP00000362762:R444W;ENSP00000362759:R444W;ENSP00000381550:R377W;ENSP00000257070:R444W;ENSP00000435397:R444W;ENSP00000391071:R86W;ENSP00000381548:R432W;ENSP00000410921:R382W;ENSP00000437219:R423W	ENSP00000257070:R444W	R	-	1	2	BAI2	31980328	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	1.885000	0.39678	2.283000	0.76528	0.561000	0.74099	CGG	BAI2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000121753		0.667	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0	15	0	G	NM_001703		32207741	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	37.50	10	6	SNP	1.000	A	A	32207741	G	A	32207741	3	1	87	1	0	0	0	0	1	0	0	0	1300	1115	39	1	3531	1	BAI2	1	32207741	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	856266	32207741	217042880	52	23176											
LCK	3932	genome.wustl.edu	37	chr1	32740999	32740999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaattttgtggccaaagCgaacagcctggagcccgaac	11	8	10	12	2	1	0	1	0	0	0	1	3	1	1	3	2	5	0	3	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:32740999C>T	ENST00000336890.5	+	5	494	c.356C>T	c.(355-357)gCg>gTg	p.A119V	LCK_ENST00000333070.4_Missense_Mutation_p.A119V|LCK_ENST00000373564.3_Missense_Mutation_p.A177V	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	119	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	GTGGCCAAAGCGAACAGCCTG	0.647			T	TRB@	T-ALL																																			Dom	yes		1	1p35-p34.3	3932	lymphocyte-specific protein tyrosine kinase		L	0													62	56	58					1																	32740999		2203	4300	6503	SO:0001583	missense	0			M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"SH2 domain containing"	6524	protein-coding gene	gene with protein product		153390	"lymphocyte-specific protein tyrosine kinase"			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.356C>T	1.37:g.32740999C>T	ENSP00000337825:p.Ala119Val		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.A119V	ENST00000336890.5	37	c.356	CCDS359.1	1	.	.	.	.	.	.	.	.	.	.	c	9.998	1.232598	0.22626	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000373562;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;D;T;D;T;D	0.92397	1.06;1.67;-3.03;1.67;-3.03;1.06;-3.03	5.29	5.29	0.74685	Src homology-3 domain (3);SH2 motif (1);	0.105088	0.41294	D	0.000901	T	0.74512	0.3726	N	0.01779	-0.725	0.37562	D	0.919092	B;B;B;B	0.10296	0.0;0.003;0.001;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.71724	-0.4506	10	0.02654	T	1	.	8.5515	0.33455	0.0:0.8341:0.0:0.1659	.	163;177;119;119	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	V	119;177;119;119;163;119;163;177	ENSP00000337825:A119V;ENSP00000431517:A177V;ENSP00000435605:A119V;ENSP00000362663:A119V;ENSP00000362658:A163V;ENSP00000328213:A119V;ENSP00000362665:A177V	ENSP00000328213:A119V	A	+	2	0	LCK	32513586	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.188000	0.50958	2.662000	0.90505	0.555000	0.69702	GCG	LCK	-	smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000182866		0.647	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCK	HGNC	protein_coding	OTTHUMT00000019616.4	-	0	83	0	C	NM_005356		32740999	1	tier1	-	no_errors	ENST00000333070	ensembl	human	known	74_37	missense	37.31	42	25	SNP	1.000	T	T	32740999	C	T	32740999	3	4	87	1	0	0	0	0	1	0	0	0	8704	768	27	1	370	1	LCK	1	32740999	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	533258	32740999	216509622	53	23177											
ZBTB8A	653121	genome.wustl.edu	37	chr1	33060715	33060715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtggtgaagcggaaggCagacctaaagcgccaccttc	12	6	12	11	2	0	2	0	1	0	1	1	3	0	3	3	3	2	1	3	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:33060715C>T	ENST00000373510.4	+	4	1113	c.884C>T	c.(883-885)gCa>gTa	p.A295V	ZBTB8A_ENST00000316459.4_Missense_Mutation_p.A295V|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	295					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AAGCGGAAGGCAGACCTAAAG	0.473																																																	0													148	119	129					1																	33060715		2203	4300	6503	SO:0001583	missense	0			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	24172	protein-coding gene	gene with protein product			"zinc finger and BTB domain containing 8"	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.884C>T	1.37:g.33060715C>T	ENSP00000362609:p.Ala295Val		Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A295V	ENST00000373510.4	37	c.884	CCDS30664.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458602	0.84317	.	.	ENSG00000160062	ENST00000373510;ENST00000316459	T;T	0.07688	3.17;3.17	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.28433	0.0703	M	0.63843	1.955	0.58432	D	0.999997	D;P	0.89917	1.0;0.851	D;P	0.76071	0.987;0.616	T	0.00218	-1.1908	10	0.66056	D	0.02	-11.9807	18.6666	0.91492	0.0:1.0:0.0:0.0	.	295;295	Q96BR9;D3DPQ1	ZBT8A_HUMAN;.	V	295	ENSP00000362609:A295V;ENSP00000317561:A295V	ENSP00000317561:A295V	A	+	2	0	ZBTB8A	32833302	1.000000	0.71417	0.738000	0.30950	0.961000	0.63080	7.391000	0.79828	2.727000	0.93392	0.579000	0.79373	GCA	ZBTB8A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160062		0.473	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	HGNC	protein_coding	OTTHUMT00000021665.2	-	0	56	0	C	NM_144621		33060715	1	tier1	-	no_errors	ENST00000373510	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T	T	33060715	C	T	33060715	3	4	87	1	0	0	0	0	1	0	0	0	17604	710	25	3	890	3	ZBTB8A	1	33060715	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	319716	33060715	216189906	54	23178											
RBBP4	5928	genome.wustl.edu	37	chr1	33134598	33134598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcctgtgggacatcagtgCcgttccaaaggagggaaaag	11	7	14	9	1	1	0	1	0	0	0	2	3	2	3	3	3	2	1	3	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:33134598C>T	ENST00000373493.5	+	6	785	c.626C>T	c.(625-627)gCc>gTc	p.A209V	RBBP4_ENST00000524393.1_3'UTR|RBBP4_ENST00000544435.1_5'UTR|RBBP4_ENST00000458695.2_Missense_Mutation_p.A174V|RBBP4_ENST00000414241.3_Missense_Mutation_p.A208V|RBBP4_ENST00000373485.1_Missense_Mutation_p.A209V	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	209					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GACATCAGTGCCGTTCCAAAG	0.443																																																	0													96	88	91					1																	33134598		2203	4300	6503	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.626C>T	1.37:g.33134598C>T	ENSP00000362592:p.Ala209Val		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A209V	ENST00000373493.5	37	c.626	CCDS366.1	1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867040	0.72065	.	.	ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000373485;ENST00000458695	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.091784	0.85682	D	0.000000	T	0.66247	0.2770	M	0.74647	2.275	0.80722	D	1	B;B	0.22211	0.066;0.039	B;B	0.24006	0.05;0.022	T	0.64943	-0.6288	10	0.54805	T	0.06	.	18.6116	0.91286	0.0:1.0:0.0:0.0	.	208;209	Q09028-2;Q09028	.;RBBP4_HUMAN	V	208;209;209;174	ENSP00000398242:A208V;ENSP00000362592:A209V;ENSP00000362584:A209V;ENSP00000396057:A174V	ENSP00000362584:A209V	A	+	2	0	RBBP4	32907185	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.832000	0.62759	2.725000	0.93324	0.591000	0.81541	GCC	RBBP4	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000162521		0.443	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	-	0	22	0	C	NM_005610		33134598	1	tier1	-	no_errors	ENST00000373493	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.999	T	T	33134598	C	T	33134598	3	4	87	1	0	0	0	0	1	0	0	0	13146	739	26	3	648	3	RBBP4	1	33134598	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	73883	33134598	216116023	55	23179											
ADC	113451	genome.wustl.edu	37	chr1	33549639	33549639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgcctgccacgagtcCggcccttttatgctgtcaag	7	11	11	12	2	1	1	1	1	0	0	2	2	2	1	4	1	3	1	4	1	3	2	rs148628180		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:33549639C>T	ENST00000294517.6	+	5	777	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ADC_ENST00000373440.1_Missense_Mutation_p.R64W|ADC_ENST00000398167.1_Missense_Mutation_p.R64W|ADC_ENST00000373441.1_Missense_Mutation_p.R64W|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Missense_Mutation_p.R64W|ADC_ENST00000358680.3_Missense_Mutation_p.R64W	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		64					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	GCCACGAGTCCGGCCCTTTTA	0.567																																																	0								C	TRP/ARG	0,4406		0,0,2203	94	81	85		190	2.7	1	1	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADC	NM_052998.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	64/461	33549639	1,13005	2203	4300	6503	SO:0001583	missense	0																														ENST00000294517.6:c.190C>T	1.37:g.33549639C>T	ENSP00000294517:p.Arg64Trp		B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.R64W	ENST00000294517.6	37	c.190	CCDS375.1	1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.913808	0.72983	0.0	1.16E-4	ENSG00000142920	ENST00000294517;ENST00000341637;ENST00000358680;ENST00000373443;ENST00000398167;ENST00000373440;ENST00000373441	T;T;T;T;T;T	0.49432	0.79;0.81;0.79;0.78;0.81;0.78	4.84	2.65	0.31530	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.901887	0.09349	N	0.814331	T	0.63640	0.2528	M	0.76574	2.34	0.35078	D	0.763116	D;D;D;D	0.89917	0.999;1.0;0.998;0.999	P;D;P;P	0.67382	0.862;0.951;0.736;0.828	T	0.66337	-0.5949	10	0.62326	D	0.03	-5.1056	5.9032	0.18978	0.3941:0.5037:0.0:0.1022	.	64;64;64;64	Q96A70-2;Q96A70-5;Q96A70-3;Q96A70	.;.;.;ADC_HUMAN	W	64	ENSP00000294517:R64W;ENSP00000351508:R64W;ENSP00000362542:R64W;ENSP00000381233:R64W;ENSP00000362539:R64W;ENSP00000362540:R64W	ENSP00000294517:R64W	R	+	1	2	ADC	33322226	0.970000	0.33590	1.000000	0.80357	0.944000	0.59088	5.400000	0.66320	1.172000	0.42781	0.557000	0.71058	CGG	ADC	-	pfam_De-COase2_N	ENSG00000142920		0.567	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	-	0	37	0	C			33549639	1	tier1	rs148628180	no_errors	ENST00000373441	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.999	T	T	33549639	C	T	33549639	3	4	87	1	0	0	0	0	1	0	0	0	287	643	23	1	196	1	ADC	1	33549639	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	415041	33549639	215700982	56	23180											
NCDN	23154	genome.wustl.edu	37	chr1	36026864	36026864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgagcgtcatgaaggaggCcataggggctgttatccact	9	9	14	9	2	1	2	1	2	0	0	2	3	2	3	2	4	1	2	2	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:36026864C>T	ENST00000373243.2	+	3	1495	c.1112C>T	c.(1111-1113)gCc>gTc	p.A371V	NCDN_ENST00000373253.3_Missense_Mutation_p.A354V|NCDN_ENST00000356090.4_Missense_Mutation_p.A371V	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	371					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGAAGGAGGCCATAGGGGCT	0.602																																																	0													43	36	38					1																	36026864		2203	4300	6503	SO:0001583	missense	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1112C>T	1.37:g.36026864C>T	ENSP00000362340:p.Ala371Val		D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.A371V	ENST00000373243.2	37	c.1112	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287297	0.80803	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	T;T;T	0.73681	-0.77;-0.77;-0.77	4.77	4.77	0.60923	.	0.164612	0.53938	D	0.000056	D	0.83663	0.5303	M	0.62723	1.935	0.80722	D	1	D	0.56287	0.975	D	0.67231	0.95	D	0.83966	0.0324	10	0.48119	T	0.1	.	16.9663	0.86286	0.0:1.0:0.0:0.0	.	371	Q9UBB6	NCDN_HUMAN	V	354;371;371	ENSP00000362350:A354V;ENSP00000348394:A371V;ENSP00000362340:A371V	ENSP00000348394:A371V	A	+	2	0	NCDN	35799451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.233000	0.65337	2.492000	0.84095	0.561000	0.74099	GCC	NCDN	-	NULL	ENSG00000020129		0.602	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	-	0	39	0	C	NM_014284		36026864	1	tier1	-	no_errors	ENST00000356090	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	T	T	36026864	C	T	36026864	3	4	87	1	0	0	0	0	1	0	0	0	10253	739	26	3	1122	3	NCDN	1	36026864	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2477225	36026864	213223757	57	23181											
EPHA10	284656	genome.wustl.edu	37	chr1	38227207	38227207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccttccgagtgcgccacGcacgttccggccacttccac	5	8	8	20	5	0	0	0	0	0	0	4	1	4	0	7	1	1	2	7	1	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:38227207G>A	ENST00000373048.4	-	3	719	c.720C>T	c.(718-720)tgC>tgT	p.C240C	EPHA10_ENST00000319637.6_Silent_p.C240C|EPHA10_ENST00000427468.2_Silent_p.C240C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	240					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGCGCCACGCACGTTCCGG	0.726																																																	0													15	17	16					1																	38227207		2193	4266	6459	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.720C>T	1.37:g.38227207G>A			A4FU89|J3KPB5|Q6NW42	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.C240	ENST00000373048.4	37	c.720	CCDS41305.1	1																																																																																			EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom	ENSG00000183317		0.726	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2		0	13	0	G	NM_173641		38227207	-1			no_errors	ENST00000427468	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	A	A	38227207	G	A	38227207	2	1	87	1	0	0	0	0	0	0	0	1	5182	1079	38	1		1	EPHA10	1	38227207	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2200343	38227207	211023414	58	23182											
MACF1	23499	genome.wustl.edu	37	chr1	39798688	39798688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggcggaaggtgtgcCgttggtggttgacaaagatg	8	10	18	5	2	0	3	0	2	0	1	0	4	0	4	1	5	2	3	1	5	2	2	rs367548192		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:39798688C>T	ENST00000372915.3	+	36	6530	c.6443C>T	c.(6442-6444)cCg>cTg	p.P2148L	MACF1_ENST00000289893.4_Missense_Mutation_p.P583L|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.P2180L|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.P2143L|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2148					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGTGTGCCGTTGGTGGTT	0.463																																																	0								C	,LEU/PRO	0,4406		0,0,2203	60	58	59		,1748	2.2	0	1		59	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	MACF1	NM_012090.4,NM_033044.3	,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,583/5939	39798688	1,13005	2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6443C>T	1.37:g.39798688C>T	ENSP00000362006:p.Pro2148Leu		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.P2180L	ENST00000372915.3	37	c.6539		1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.626213	0.00820	0.0	1.16E-4	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61392	0.11;1.19	5.61	2.22	0.28083	.	2.005900	0.01961	N	0.043347	T	0.33585	0.0868	N	0.03608	-0.345	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.29427	-1.0012	10	0.59425	D	0.04	.	1.1114	0.01705	0.3726:0.3186:0.1227:0.1861	.	2148	Q9UPN3	MACF1_HUMAN	L	2148;583	ENSP00000362006:P2148L;ENSP00000289893:P583L	ENSP00000289893:P583L	P	+	2	0	MACF1	39571275	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.612000	0.05616	0.170000	0.19704	-0.444000	0.05651	CCG	MACF1	-	superfamily_RNaseH-like_dom	ENSG00000127603		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	23	0	C	NM_033044		39798688	1	tier1	-	no_errors	ENST00000567887	ensembl	human	putative	74_37	missense	29.41	12	5	SNP	0.000	T	T	39798688	C	T	39798688	3	4	87	1	0	0	0	0	1	0	0	0	9180	652	23	1	6519	1	MACF1	1	39798688	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1571481	39798688	209451933	59	23183											
HEYL	26508	genome.wustl.edu	37	chr1	40092236	40092236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggtagagcatggctccCgctggcctcccagctggccc	5	7	14	15	1	0	1	0	0	0	1	2	2	2	1	4	4	2	5	4	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:40092236C>T	ENST00000372852.3	-	5	1249	c.930G>A	c.(928-930)gcG>gcA	p.A310A	HEYL_ENST00000535435.1_Silent_p.A282A	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	310					atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCATGGCTCCCGCTGGCCTCC	0.612																																																	0													10	8	9					1																	40092236		2171	4249	6420	SO:0001819	synonymous_variant	0			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"Basic helix-loop-helix proteins"	4882	protein-coding gene	gene with protein product	"hairy/enhancer-of-split related with YRPW motif 3"	609034	"hairy/enhancer-of-split related with YRPW motif-like"			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.930G>A	1.37:g.40092236C>T			Q5TG99	Silent	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.A310	ENST00000372852.3	37	c.930	CCDS439.1	1																																																																																			HEYL	-	NULL	ENSG00000163909		0.612	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEYL	HGNC	protein_coding	OTTHUMT00000001179.2	-	0	82	0	C	NM_014571		40092236	-1	tier1	-	no_errors	ENST00000372852	ensembl	human	known	74_37	silent	26.92	57	21	SNP	0.000	T	T	40092236	C	T	40092236	2	4	87	1	0	0	0	0	0	0	0	1	7107	639	23	1		1	HEYL	1	40092236	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	293548	40092236	209158385	60	23184											
KCNQ4	9132	genome.wustl.edu	37	chr1	41298775	41298775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgaagacagtcatcCgctccatcaggtaagactga	11	9	10	11	1	2	4	2	2	0	2	4	4	4	4	2	1	1	3	2	1	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:41298775C>T	ENST00000347132.5	+	11	1685	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.R481C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	535					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	GACAGTCATCCGCTCCATCAG	0.597																																																	0													111	93	99					1																	41298775		2203	4300	6503	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1603C>T	1.37:g.41298775C>T	ENSP00000262916:p.Arg535Cys		O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R535C	ENST00000347132.5	37	c.1603	CCDS456.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.139112|4.139112	0.77775|0.77775	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.99807	.|-6.85;-6.85	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Potassium channel, voltage dependent, KCNQ, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99722|0.99722	0.9892|0.9892	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.97298|0.97298	0.9929|0.9929	5|10	.|0.87932	.|D	.|0	-26.9446|-26.9446	14.9259|14.9259	0.70878|0.70878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|481;535	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	L|C	395|535;481	.|ENSP00000262916:R535C;ENSP00000423756:R481C	.|ENSP00000262916:R535C	P|R	+|+	2|1	0|0	KCNQ4|KCNQ4	41071362|41071362	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	1.806000|1.806000	0.38892|0.38892	2.582000|2.582000	0.87167|0.87167	0.650000|0.650000	0.86243|0.86243	CCG|CGC	KCNQ4	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000117013		0.597	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1		0	37	0	C	NM_004700		41298775	1			no_errors	ENST00000347132	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T	T	41298775	C	T	41298775	3	4	87	1	0	0	0	0	1	0	0	0	8112	652	23	1	1645	1	KCNQ4	1	41298775	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1206539	41298775	207951846	61	23185											
YBX1	4904	genome.wustl.edu	37	chr1	43166567	43166567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtaccgccgcaacttcAattaccgacgcagacgccca	10	6	9	16	6	1	1	1	0	0	1	2	2	1	1	4	1	3	3	4	1	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:43166567A>G	ENST00000321358.7	+	7	995	c.856A>G	c.(856-858)Aat>Gat	p.N286D		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	286					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGCAACTTCAATTACCGACG	0.522																																																	0													72	65	67					1																	43166567		2203	4300	6503	SO:0001583	missense	0			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.856A>G	1.37:g.43166567A>G	ENSP00000361626:p.Asn286Asp		P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.N286D	ENST00000321358.7	37	c.856	CCDS470.1	1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534058	0.64972	.	.	ENSG00000065978	ENST00000321358;ENST00000318612	T	0.35048	1.33	5.35	5.35	0.76521	.	0.080919	0.85682	D	0.000000	T	0.45357	0.1338	M	0.90019	3.08	0.58432	D	0.999998	B	0.29862	0.259	B	0.24848	0.056	T	0.47484	-0.9114	10	0.30854	T	0.27	-1.9965	13.3434	0.60557	1.0:0.0:0.0:0.0	.	286	P67809	YBOX1_HUMAN	D	286;276	ENSP00000361626:N286D	ENSP00000361621:N276D	N	+	1	0	YBX1	42939154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.169000	0.89672	2.023000	0.59567	0.451000	0.29950	AAT	YBX1	-	NULL	ENSG00000065978		0.522	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX1	HGNC	protein_coding	OTTHUMT00000019786.2	-	0	141	0	A	NM_004559		43166567	1	tier1	-	no_errors	ENST00000321358	ensembl	human	known	74_37	missense	12.40	106	15	SNP	1.000	G	G	43166567	A	G	43166567	3	3	87	1	0	0	0	0	1	0	0	0	17518	130	5	4	882	4	YBX1	1	43166567	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1867792	43166567	206084054	62	23186											
KIAA0467	23334	genome.wustl.edu	37	chr1	43905341	43905341	+	Frame_Shift_Del	DEL	C	C	-																															ccttgtcactggcgttgtggCccccctcctctccggggccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:43905341delC	ENST00000562955.1	+	49	6772	c.6772delC	c.(6772-6774)cccfs	p.P2259fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.P1417fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2316					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGCGTTGTGGCCCCCCTCCTC	0.607																																																	0													63	73	70					1																	43905341		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6772delC	1.37:g.43905341delC	ENSP00000457168:p.Pro2259fs		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Del	DEL	NULL	p.S2260fs	ENST00000562955.1	37	c.6772	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3		0	31	0	C	NM_015284		43905341	1	tier1		no_errors	ENST00000562955	ensembl	human	known	74_37	frame_shift_del	11.76	30	4	DEL	0.994	-	-	43905341	C	-	43905341	7	5	87	1	0	1	0	1	0	0	0	0	8205	739	26	0	4376	0	KIAA0467	1	43905341	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	738774	43905341	205345280	63	23187											
SLC6A9	6536	genome.wustl.edu	37	chr1	44468596	44468596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaccgaggcagccaaGgaggggcagccgcacctccc	10	1	15	15	2	0	1	0	0	0	1	1	4	1	2	5	5	2	3	5	5	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:44468596G>T	ENST00000360584.2	-	6	1062	c.871C>A	c.(871-873)Ctt>Att	p.L291I	SLC6A9_ENST00000372310.3_Missense_Mutation_p.L218I|SLC6A9_ENST00000537678.1_Missense_Mutation_p.L153I|SLC6A9_ENST00000372307.3_Missense_Mutation_p.L153I|SLC6A9_ENST00000372306.3_Missense_Mutation_p.L218I|SLC6A9_ENST00000475075.2_Missense_Mutation_p.L107I|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L237I	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	291					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGGCAGCCAAGGAGGGGCAGC	0.617																																																	0													126	133	131					1																	44468596		2203	4300	6503	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.871C>A	1.37:g.44468596G>T	ENSP00000353791:p.Leu291Ile		A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.L291I	ENST00000360584.2	37	c.871	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260082	0.80246	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.12	5.12	0.69794	.	0.233238	0.37437	N	0.002098	D	0.84174	0.5414	L	0.58101	1.795	0.58432	D	0.999999	D;P;P;P;P;D	0.76494	0.999;0.89;0.89;0.539;0.539;0.999	D;P;P;B;B;D	0.87578	0.984;0.69;0.474;0.234;0.234;0.998	T	0.82717	-0.0319	10	0.39692	T	0.17	.	18.7515	0.91818	0.0:0.0:1.0:0.0	.	222;218;153;218;237;291	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	I	153;218;218;107;291;237;153	ENSP00000361381:L153I;ENSP00000361380:L218I;ENSP00000361384:L218I;ENSP00000434460:L107I;ENSP00000353791:L291I;ENSP00000350362:L237I;ENSP00000442523:L153I	ENSP00000350362:L237I	L	-	1	0	SLC6A9	44241183	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.787000	0.85759	2.667000	0.90743	0.655000	0.94253	CTT	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000196517		0.617	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	-	0	72	0	G	NM_201649		44468596	-1	tier1	-	no_errors	ENST00000360584	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	T	T	44468596	G	T	44468596	3	4	87	1	0	0	0	0	1	0	0	0	14736	1000	35	3	1285	3	SLC6A9	1	44468596	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	563255	44468596	204782025	64	23188											
KLF17	128209	genome.wustl.edu	37	chr1	44596234	44596234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcatggtctttcttcCgttctgatgagcttagacga	6	17	10	8	2	4	3	1	2	3	1	5	4	5	3	1	1	1	4	1	1	1	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:44596234C>T	ENST00000372299.3	+	3	1034	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	326					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTCTTTCTTCCGTTCTGATGA	0.458																																																	0													149	136	140					1																	44596234		2203	4300	6503	SO:0001583	missense	0			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"Zinc fingers, C2H2-type", "Kruppel-like transcription factors"	18830	protein-coding gene	gene with protein product		609602	"zinc finger protein 393"	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.976C>T	1.37:g.44596234C>T	ENSP00000361373:p.Arg326Cys		Q86VQ7|Q8N805	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R326C	ENST00000372299.3	37	c.976	CCDS508.1	1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927476	0.34002	.	.	ENSG00000171872	ENST00000372299	T	0.71698	-0.59	4.47	3.56	0.40772	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.280447	0.26062	N	0.026574	T	0.78419	0.4280	M	0.62723	1.935	0.52501	D	0.999951	D	0.89917	1.0	D	0.68621	0.959	T	0.79222	-0.1892	10	0.87932	D	0	.	8.3224	0.32136	0.0:0.8957:0.0:0.1043	.	326	Q5JT82	KLF17_HUMAN	C	326	ENSP00000361373:R326C	ENSP00000361373:R326C	R	+	1	0	KLF17	44368821	1.000000	0.71417	0.979000	0.43373	0.311000	0.27955	5.318000	0.65829	1.485000	0.48380	0.561000	0.74099	CGT	KLF17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171872		0.458	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	-	0	49	0	C	NM_173484		44596234	1	tier1	-	no_errors	ENST00000372299	ensembl	human	known	74_37	missense	14.29	35	6	SNP	1.000	T	T	44596234	C	T	44596234	3	4	87	1	0	0	0	0	1	0	0	0	8372	652	23	1	986	1	KLF17	1	44596234	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	127638	44596234	204654387	65	23189											
RNF220	55182	genome.wustl.edu	37	chr1	44877906	44877906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcccttgtcagcagccacGaccctttggtgtacctgtct	6	12	8	15	1	2	0	1	0	1	0	3	1	3	0	4	1	3	2	4	1	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:44877906G>A	ENST00000355387.2	+	2	587	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RNF220_ENST00000361799.2_Missense_Mutation_p.R46Q|RNF220_ENST00000372247.2_Missense_Mutation_p.R46Q			Q5VTB9	RN220_HUMAN	ring finger protein 220	46					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R46P(2)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CAGCAGCCACGACCCTTTGGT	0.557																																																	2	Substitution - Missense(2)	endometrium(2)											184	168	173					1																	44877906		2203	4300	6503	SO:0001583	missense	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.137G>A	1.37:g.44877906G>A	ENSP00000347548:p.Arg46Gln		B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Missense_Mutation	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R46Q	ENST00000355387.2	37	c.137	CCDS510.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813740	0.90790	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000003	T	0.66336	0.2779	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	T	0.66697	-0.5858	9	0.59425	D	0.04	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	46	Q5VTB9	RN220_HUMAN	Q	46	.	ENSP00000347548:R46Q	R	+	2	0	RNF220	44650493	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.880000	0.98712	0.655000	0.94253	CGA	RNF220	-	NULL	ENSG00000187147		0.557	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	-	0	54	0	G	NM_018150		44877906	1	tier1	-	no_errors	ENST00000355387	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	A	A	44877906	G	A	44877906	3	1	87	1	0	0	0	0	1	0	0	0	13528	1058	37	1	139	1	RNF220	1	44877906	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	281672	44877906	204372715	66	23190											
MUTYH	4595	genome.wustl.edu	37	chr1	45797165	45797165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcctgcagcagggccttgCgctgaagctgctctgagggc	5	9	15	12	1	1	2	0	2	1	0	2	2	2	2	2	2	5	6	2	2	1	2	rs373803765		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:45797165C>T	ENST00000372098.3	-	13	1374	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	MUTYH_ENST00000450313.1_Missense_Mutation_p.R417H|MUTYH_ENST00000456914.2_Missense_Mutation_p.R389H|MUTYH_ENST00000529984.1_Missense_Mutation_p.R84H|MUTYH_ENST00000372115.3_Missense_Mutation_p.R403H|MUTYH_ENST00000488731.2_Missense_Mutation_p.R84H|MUTYH_ENST00000528332.2_Missense_Mutation_p.R98H|MUTYH_ENST00000354383.6_Missense_Mutation_p.R390H|MUTYH_ENST00000528013.2_Missense_Mutation_p.R403H|MUTYH_ENST00000372100.5_Missense_Mutation_p.R400H|MUTYH_ENST00000355498.2_Missense_Mutation_p.R389H|MUTYH_ENST00000372110.3_Missense_Mutation_p.R404H|MUTYH_ENST00000448481.1_Missense_Mutation_p.R400H|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000372104.1_Missense_Mutation_p.R389H			Q9UIF7	MUTYH_HUMAN	mutY homolog	414	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGGGCCTTGCGCTGAAGCTG	0.662			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	33	35	34		1208,1169,1166,1166,1250,1241	-1.6	0	1		34	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	MUTYH	NM_001048171.1,NM_001048172.1,NM_001048173.1,NM_001048174.1,NM_001128425.1,NM_012222.2	29,29,29,29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	403/536,390/523,389/522,389/522,417/550,414/547	45797165	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"mutY (E. coli) homolog", "mutY homolog (E. coli)"			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1241G>A	1.37:g.45797165C>T	ENSP00000361170:p.Arg414His		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.R417H	ENST00000372098.3	37	c.1250	CCDS520.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.252|5.252	0.231964|0.231964	0.09969|0.09969	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000132781|ENSG00000132781	ENST00000529892|ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.67865	.|-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.4|5.4	-1.61|-1.61	0.08399|0.08399	.|NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	.|0.675264	.|0.15691	.|N	.|0.249435	T|T	0.55513|0.55513	0.1925|0.1925	L|L	0.60845|0.60845	1.875|1.875	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B	.|0.22211	.|0.066;0.018;0.001;0.03;0.001;0.018;0.01;0.018	.|B;B;B;B;B;B;B;B	.|0.17722	.|0.019;0.008;0.002;0.018;0.002;0.008;0.005;0.008	T|T	0.43015|0.43015	-0.9417|-0.9417	5|10	.|0.38643	.|T	.|0.18	0.1408|0.1408	7.7181|7.7181	0.28717|0.28717	0.112:0.3246:0.0:0.5634|0.112:0.3246:0.0:0.5634	.|.	.|98;417;414;404;414;403;297;390	.|B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.|.;.;.;.;MUTYH_HUMAN;.;.;.	T|H	81|84;98;389;400;389;390;389;414;404;403;84;417;400	.|ENSP00000437093:R84H;ENSP00000433076:R98H;ENSP00000361176:R389H;ENSP00000409718:R400H;ENSP00000407590:R389H;ENSP00000346354:R390H;ENSP00000347685:R389H;ENSP00000361170:R414H;ENSP00000361182:R404H;ENSP00000361187:R403H;ENSP00000432330:R84H;ENSP00000408176:R417H;ENSP00000361172:R400H	.|ENSP00000346354:R390H	A|R	-|-	1|2	0|0	MUTYH|MUTYH	45569752|45569752	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.357000|0.357000	0.29423|0.29423	-0.469000|-0.469000	0.06648|0.06648	-0.646000|-0.646000	0.05452|0.05452	-0.345000|-0.345000	0.07892|0.07892	GCA|CGC	MUTYH	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000132781		0.662	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	-	0	55	0	C	NM_012222		45797165	-1	tier1	-	no_errors	ENST00000450313	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.000	T	T	45797165	C	T	45797165	3	4	87	1	0	0	0	0	1	0	0	0	10031	768	27	1	415	1	MUTYH	1	45797165	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	919259	45797165	203453456	67	23191											
TMEM69	51249	genome.wustl.edu	37	chr1	46158997	46158997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctttcctcatcatttcCagcgtatatgagcaagacac	10	13	7	11	1	2	2	2	1	0	1	4	2	4	2	2	1	2	3	2	1	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:46158997C>T	ENST00000372025.4	+	3	1321	c.164C>T	c.(163-165)cCa>cTa	p.P55L	TMEM69_ENST00000496366.1_3'UTR|RP11-767N6.7_ENST00000430643.1_RNA	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	55						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCATCATTTCCAGCGTATATG	0.468																																																	0													279	274	276					1																	46158997		1943	4153	6096	SO:0001583	missense	0			BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 154"	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.164C>T	1.37:g.46158997C>T	ENSP00000361095:p.Pro55Leu		Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	pfam_DUF3429	p.P55L	ENST00000372025.4	37	c.164	CCDS41325.1	1	.	.	.	.	.	.	.	.	.	.	C	8.625	0.892262	0.17613	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.82	3.57	0.40892	.	0.243646	0.41294	D	0.000920	T	0.30293	0.0760	N	0.19112	0.55	0.32379	N	0.554758	B	0.20887	0.049	B	0.19666	0.026	T	0.31943	-0.9925	9	0.19590	T	0.45	-4.7031	11.548	0.50704	0.1305:0.7948:0.0:0.0747	.	55	Q5SWH9	TMM69_HUMAN	L	55	.	ENSP00000361095:P55L	P	+	2	0	TMEM69	45931584	0.984000	0.35163	0.980000	0.43619	0.020000	0.10135	1.854000	0.39368	1.406000	0.46857	0.561000	0.74099	CCA	TMEM69	-	NULL	ENSG00000159596		0.468	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM69	HGNC	protein_coding	OTTHUMT00000098390.1	-	0	39	0	C	NM_016486		46158997	1	tier1	-	no_errors	ENST00000372025	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.899	T	T	46158997	C	T	46158997	3	4	87	1	0	0	0	0	1	0	0	0	16245	594	21	3	170	3	TMEM69	1	46158997	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	361832	46158997	203091624	68	23192											
RAB3B	5865	genome.wustl.edu	37	chr1	52385688	52385688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgacgggtctgtgtccaGcgaatcagacatcttgtcac	9	10	10	12	3	4	1	2	0	2	1	6	3	5	1	1	1	1	0	1	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52385688G>T	ENST00000371655.3	-	5	783	c.571C>A	c.(571-573)Ctg>Atg	p.L191M		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	191					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						TCTGTGTCCAGCGAATCAGAC	0.557																																																	0													137	112	120					1																	52385688		2203	4300	6503	SO:0001583	missense	0			BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"RAB, member RAS oncogene"	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.571C>A	1.37:g.52385688G>T	ENSP00000360718:p.Leu191Met		Q5VUL2|Q9BSI1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L191M	ENST00000371655.3	37	c.571	CCDS560.1	1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712042	0.30322	.	.	ENSG00000169213	ENST00000371655;ENST00000537650	T	0.80214	-1.35	5.49	1.27	0.21489	.	0.346149	0.27327	N	0.019862	T	0.69602	0.3129	L	0.41492	1.28	0.28789	N	0.899427	B	0.15719	0.014	B	0.17979	0.02	T	0.62091	-0.6927	10	0.49607	T	0.09	.	8.1591	0.31187	0.0745:0.0:0.5216:0.4039	.	191	P20337	RAB3B_HUMAN	M	191	ENSP00000360718:L191M	ENSP00000360718:L191M	L	-	1	2	RAB3B	52158276	0.004000	0.15560	0.787000	0.31911	0.863000	0.49368	-0.029000	0.12329	0.381000	0.24851	-0.164000	0.13417	CTG	RAB3B	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000169213		0.557	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3B	HGNC	protein_coding	OTTHUMT00000023816.1	-	0	32	0	G	NM_002867		52385688	-1	tier1	-	no_errors	ENST00000371655	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.158	T	T	52385688	G	T	52385688	3	4	87	1	0	0	0	0	1	0	0	0	12977	962	34	3	92	3	RAB3B	1	52385688	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6226691	52385688	196864933	69	23193											
CC2D1B	200014	genome.wustl.edu	37	chr1	52826167	52826167	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggccgcagcctctcGgtagttgtgaatccgttcct	5	11	12	13	3	1	1	0	1	1	0	4	1	3	1	4	3	1	5	4	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52826167G>A	ENST00000371586.2	-	6	670	c.532C>T	c.(532-534)Cga>Tga	p.R178*	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Nonsense_Mutation_p.R178*	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	178						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGCCTCTCGGTAGTTGTGA	0.637																																																	0													35	35	35					1																	52826167		2203	4300	6503	SO:0001587	stop_gained	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.532C>T	1.37:g.52826167G>A	ENSP00000360642:p.Arg178*		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.R178*	ENST00000371586.2	37	c.532	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236790	0.58886	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	.	.	.	5.42	2.49	0.30216	.	0.759162	0.12304	N	0.480842	.	.	.	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.1989	6.9988	0.24797	0.0795:0.0:0.4782:0.4423	.	.	.	.	X	178;178;92	.	ENSP00000284376:R178X	R	-	1	2	CC2D1B	52598755	0.915000	0.31059	0.437000	0.26809	0.097000	0.18754	0.733000	0.26087	0.253000	0.21552	-0.226000	0.12346	CGA	CC2D1B	-	smart_DM14	ENSG00000154222		0.637	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1		0	83	0	G	NM_032449		52826167	-1			no_errors	ENST00000371586	ensembl	human	known	74_37	nonsense	6.76	69	5	SNP	0.234	A	A	52826167	G	A	52826167	4	1	87	1	0	0	0	0	0	1	0	0	2734	1124	39	1	2120	1	CC2D1B	1	52826167	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	440479	52826167	196424454	70	23194											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52937633	52937633	+	Frame_Shift_Del	DEL	T	T	-																															gaaagacttaccaaaacatcTtttacatactaaatcaagta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52937633delT	ENST00000371544.3	-	14	3131	c.2869delA	c.(2869-2871)agafs	p.R957fs	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.R957fs	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	957					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCAAAACATCTTTTACATACT	0.294																																																	0													73	73	73					1																	52937633		2203	4300	6503	SO:0001589	frameshift_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2869delA	1.37:g.52937633delT	ENSP00000360599:p.Arg957fs		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R957fs	ENST00000371544.3	37	c.2869	CCDS30716.1	1																																																																																			ZCCHC11	-	NULL	ENSG00000134744		0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1		0	77	0	T	XM_038288		52937633	-1	tier1		no_errors	ENST00000257177	ensembl	human	known	74_37	frame_shift_del	14.47	65	11	DEL	1.000	-	-	52937633	T	-	52937633	7	5	87	1	0	1	0	1	0	0	0	0	17628	1617	56	0	2136	0	ZCCHC11	1	52937633	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	111466	52937633	196312988	71	23195											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52940535	52940535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaataaacttatcaaacAcataatataattcctgggtg	18	13	4	6	0	1	0	1	0	0	0	2	0	2	0	1	1	2	0	1	1	9	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:52940535A>G	ENST00000371544.3	-	13	2958	c.2696T>C	c.(2695-2697)gTg>gCg	p.V899A	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.V899A	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	899					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTATCAAACACATAATATAA	0.363																																																	0													58	61	60					1																	52940535		2203	4300	6503	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2696T>C	1.37:g.52940535A>G	ENSP00000360599:p.Val899Ala		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V899A	ENST00000371544.3	37	c.2696	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367857	0.61513	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.48201	0.82;0.83;0.87;0.87	5.49	5.49	0.81192	.	0.135420	0.50627	D	0.000108	T	0.47875	0.1469	L	0.47716	1.5	0.80722	D	1	P;D	0.58268	0.61;0.982	B;P	0.50162	0.219;0.633	T	0.39292	-0.9621	10	0.09084	T	0.74	.	15.5794	0.76422	1.0:0.0:0.0:0.0	.	658;899	E9PKX1;Q5TAX3	.;TUT4_HUMAN	A	899;899;828;658	ENSP00000257177:V899A;ENSP00000360599:V899A;ENSP00000433486:V828A;ENSP00000435256:V658A	ENSP00000257177:V899A	V	-	2	0	ZCCHC11	52713123	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.936000	0.70153	2.071000	0.62044	0.455000	0.32223	GTG	ZCCHC11	-	NULL	ENSG00000134744		0.363	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0	44	0	A	XM_038288		52940535	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	G	G	52940535	A	G	52940535	3	3	87	1	0	0	0	0	1	0	0	0	17628	159	6	4	2313	4	ZCCHC11	1	52940535	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2902	52940535	196310086	72	23196											
GPX7	2882	genome.wustl.edu	37	chr1	53073995	53073995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtagccccagatggaaaGgtggtaggggcttgggaccc	9	7	16	9	0	0	1	0	0	0	1	0	3	0	3	3	6	1	3	3	6	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:53073995G>T	ENST00000361314.4	+	3	500	c.462G>T	c.(460-462)aaG>aaT	p.K154N		NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7	154					response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	CAGATGGAAAGGTGGTAGGGG	0.542																																																	0													114	111	112					1																	53073995		2203	4300	6503	SO:0001583	missense	0			AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.462G>T	1.37:g.53073995G>T	ENSP00000354677:p.Lys154Asn		O95337|Q5T501	Missense_Mutation	SNP	pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	p.K154N	ENST00000361314.4	37	c.462	CCDS569.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924740	0.52653	.	.	ENSG00000116157	ENST00000361314	T	0.22743	1.94	5.3	3.18	0.36537	Thioredoxin-like fold (2);	0.089128	0.85682	D	0.000000	T	0.14313	0.0346	L	0.43152	1.355	0.58432	D	0.999994	B	0.28820	0.224	B	0.28638	0.092	T	0.08432	-1.0722	10	0.24483	T	0.36	-26.6313	4.207	0.10493	0.4922:0.0:0.5078:0.0	.	154	Q96SL4	GPX7_HUMAN	N	154	ENSP00000354677:K154N	ENSP00000354677:K154N	K	+	3	2	GPX7	52846583	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	2.374000	0.44274	1.239000	0.43787	0.313000	0.20887	AAG	GPX7	-	superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7	ENSG00000116157		0.542	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX7	HGNC	protein_coding	OTTHUMT00000022913.1	-	0	41	0	G	NM_015696		53073995	1	tier1	-	no_errors	ENST00000361314	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T	T	53073995	G	T	53073995	3	4	87	1	0	0	0	0	1	0	0	0	6772	991	35	3	472	3	GPX7	1	53073995	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	133460	53073995	196176626	73	23197											
MRPL37	51253	genome.wustl.edu	37	chr1	54670828	54670828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgatctctcacgccCgtctctggcagaccactgag	8	10	10	13	2	3	4	1	3	2	1	5	4	3	4	2	1	0	1	2	1	1	0	rs201357587		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:54670828C>T	ENST00000360840.5	+	2	561	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	MRPL37_ENST00000336230.6_Intron|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Missense_Mutation_p.R162C	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	162					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CTCTCACGCCCGTCTCTGGCA	0.483													C|||	1	0.000199681	8e-04	0	5008	,	,		19076	0		0	False		,,,				2504	0																0													98	94	95					1																	54670828		2203	4300	6503	SO:0001583	missense	0			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"Mitochondrial ribosomal proteins / large subunits"	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.484C>T	1.37:g.54670828C>T	ENSP00000354086:p.Arg162Cys		Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.R162C	ENST00000360840.5	37	c.484	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684361	0.47991	.	.	ENSG00000116221	ENST00000360840;ENST00000329505	T	0.18810	2.19	5.12	5.12	0.69794	.	0.105808	0.64402	D	0.000005	T	0.18593	0.0446	L	0.47190	1.495	0.80722	D	1	P;B	0.36330	0.548;0.32	B;B	0.33521	0.165;0.032	T	0.02505	-1.1149	10	0.35671	T	0.21	-3.9419	11.6613	0.51347	0.0:0.9179:0.0:0.0821	.	99;162	E9PB99;Q9BZE1	.;RM37_HUMAN	C	162;99	ENSP00000354086:R162C	ENSP00000328799:R99C	R	+	1	0	MRPL37	54443416	0.907000	0.30839	0.973000	0.42090	0.781000	0.44180	1.796000	0.38794	2.377000	0.81083	0.655000	0.94253	CGT	MRPL37	-	pfam_Ribosomal_L37/S30	ENSG00000116221		0.483	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	-	0	43	0	C	NM_016491		54670828	1	tier1	rs201357587	no_errors	ENST00000360840	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.984	T	T	54670828	C	T	54670828	3	4	87	1	0	0	0	0	1	0	0	0	9838	652	23	1	490	1	MRPL37	1	54670828	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1596833	54670828	194579793	74	23198											
C1orf175	374977	genome.wustl.edu	37	chr1	55118660	55118660	+	Frame_Shift_Del	DEL	C	C	-																															acccaaagatgacaccaagtCccccctcctgtggggccccg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:55118660delC	ENST00000421030.2	+	3	346	c.61delC	c.(61-63)cccfs	p.P22fs	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Frame_Shift_Del_p.P22fs|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Frame_Shift_Del_p.P22fs|MROH7-TTC4_ENST00000414150.2_Frame_Shift_Del_p.P22fs|MROH7_ENST00000545244.1_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	22						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GACACCAAGTCCCCCCTCCTG	0.597																																																	0													59	59	59					1																	55118660		1907	4108	6015	SO:0001589	frameshift_variant	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.61delC	1.37:g.55118660delC	ENSP00000396622:p.Pro22fs		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.S23fs	ENST00000421030.2	37	c.61	CCDS41342.2	1																																																																																			MROH7-TTC4	-	NULL	ENSG00000271723		0.597	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1		0	28	0	C	NM_198547		55118660	1	tier1		no_errors	ENST00000414150	ensembl	human	known	74_37	frame_shift_del	20.00	24	6	DEL	0.001	-	-	55118660	C	-	55118660	7	5	87	1	0	1	0	1	0	0	0	0	2023	855	30	0	63	0	C1orf175	1	55118660	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	447832	55118660	194131961	75	23199											
C1orf175	374977	genome.wustl.edu	37	chr1	55136582	55136582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatgcaggagaaggacgagGccaaggctgagaccatccag	13	3	15	10	2	0	2	0	1	0	2	1	7	1	3	3	4	1	2	3	4	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:55136582G>T	ENST00000421030.2	+	7	1864	c.1579G>T	c.(1579-1581)Gcc>Tcc	p.A527S	MROH7_ENST00000339553.5_Missense_Mutation_p.A527S|MROH7_ENST00000409996.1_Missense_Mutation_p.A95S|MROH7_ENST00000454855.2_Missense_Mutation_p.A45S|MROH7_ENST00000395690.2_Missense_Mutation_p.A527S|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.A527S|MROH7_ENST00000545244.1_Missense_Mutation_p.A95S	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	527						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GAAGGACGAGGCCAAGGCTGA	0.652																																																	0													32	39	37					1																	55136582		2150	4245	6395	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1579G>T	1.37:g.55136582G>T	ENSP00000396622:p.Ala527Ser		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A527S	ENST00000421030.2	37	c.1579	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	5.636	0.302022	0.10678	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;3.61;1.46	5.08	1.73	0.24493	.	0.177190	0.27581	N	0.018734	T	0.17066	0.0410	N	0.21448	0.665	0.09310	N	1	B;B;B	0.28350	0.208;0.041;0.008	B;B;B	0.31686	0.134;0.016;0.005	T	0.21965	-1.0230	10	0.14656	T	0.56	-2.7207	7.7389	0.28831	0.0:0.2683:0.5618:0.1698	.	527;527;95	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	S	527;95;552;527;95;45;527	ENSP00000396622:A527S;ENSP00000442333:A95S;ENSP00000343211:A527S;ENSP00000387048:A95S;ENSP00000401130:A45S;ENSP00000379044:A527S	ENSP00000343211:A527S	A	+	1	0	HEATR8	54909170	0.004000	0.15560	0.922000	0.36590	0.361000	0.29550	0.845000	0.27668	1.092000	0.41356	0.650000	0.86243	GCC	MROH7-TTC4	-	superfamily_ARM-type_fold	ENSG00000271723		0.652	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	-	0	17	0	G	NM_198547		55136582	1	tier1	-	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.358	T	T	55136582	G	T	55136582	3	4	87	1	0	0	0	0	1	0	0	0	2023	1203	42	3	1597	3	C1orf175	1	55136582	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	17922	55136582	194114039	76	23200											
USP24	23358	genome.wustl.edu	37	chr1	55614173	55614173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtttgttttatgaatgagCgagtaatttcatggagctga	11	15	12	3	1	1	3	1	3	0	0	1	5	1	4	0	2	2	4	0	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:55614173C>T	ENST00000294383.6	-	17	1930	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	USP24_ENST00000407756.1_Missense_Mutation_p.R484H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	644					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TATGAATGAGCGAGTAATTTC	0.318																																																	0													93	80	84					1																	55614173		1832	4085	5917	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1931G>A	1.37:g.55614173C>T	ENSP00000294383:p.Arg644His		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.R484H	ENST00000294383.6	37	c.1451	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801253	0.90538	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	D;T	0.83335	-1.71;4.34	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	L	0.47716	1.5	0.58432	D	0.999996	D	0.71674	0.998	D	0.72075	0.976	D	0.87360	0.2343	10	0.44086	T	0.13	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	484	B7WPF4	.	H	644;484	ENSP00000294383:R644H;ENSP00000385700:R484H	ENSP00000294383:R644H	R	-	2	0	USP24	55386761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	CGC	USP24	-	NULL	ENSG00000162402		0.318	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0	119	0	C			55614173	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	13.45	103	16	SNP	1.000	T	T	55614173	C	T	55614173	3	4	87	1	0	0	0	0	1	0	0	0	17104	768	27	1	6139	1	USP24	1	55614173	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	477591	55614173	193636448	77	23201											
DAB1	1600	genome.wustl.edu	37	chr1	57538024	57538024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatatccaaaggcccGgtgatctgtaatgtcctttg	12	11	8	10	1	1	1	0	1	1	0	3	1	3	1	3	2	1	1	3	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:57538024G>A	ENST00000371231.1	-	4	404	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	DAB1_ENST00000420954.2_Missense_Mutation_p.R124W|DAB1_ENST00000371234.4_Missense_Mutation_p.R124W|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.R124W|DAB1_ENST00000414851.2_Missense_Mutation_p.R124W|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371230.1_Missense_Mutation_p.R124W			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	124	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCAAAGGCCCGGTGATCTGTA	0.443																																																	0													127	122	124					1																	57538024		2203	4300	6503	SO:0001583	missense	0			BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"disabled (Drosophila) homolog 1", "disabled homolog 1 (Drosophila)", "Dab, reelin signal transducer, homolog 1 (Drosophila)", "Dab reelin signal transducer 1"			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.370C>T	1.37:g.57538024G>A	ENSP00000360275:p.Arg124Trp		A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.R124W	ENST00000371231.1	37	c.370		1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492379	0.64074	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000371231;ENST00000332102;ENST00000371230	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.84	4.91	0.64330	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.979;0.998;0.976;0.97	D	0.85010	0.0905	10	0.87932	D	0	-24.2097	16.1875	0.81962	0.0:0.0:0.8659:0.1341	.	124;124;124;124	O75553-4;O75553;O75553-6;O75553-5	.;DAB1_HUMAN;.;.	W	124	ENSP00000360280:R124W;ENSP00000360278:R124W;ENSP00000395296:R124W;ENSP00000387581:R124W;ENSP00000360275:R124W;ENSP00000329120:R124W;ENSP00000360274:R124W	ENSP00000329120:R124W	R	-	1	2	DAB1	57310612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.022000	0.64078	1.436000	0.47453	0.591000	0.81541	CGG	DAB1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000173406		0.443	DAB1-010	KNOWN	basic	protein_coding	DAB1	HGNC	protein_coding	OTTHUMT00000027962.1	-	0	61	0	G	NM_021080		57538024	-1	tier1	-	no_errors	ENST00000371231	ensembl	human	known	74_37	missense	21.74	54	15	SNP	1.000	A	A	57538024	G	A	57538024	3	1	87	1	0	0	0	0	1	0	0	0	4226	1115	39	1	1337	1	DAB1	1	57538024	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1923851	57538024	191712597	78	23202											
KANK4	163782	genome.wustl.edu	37	chr1	62739570	62739570	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccctgagtgtctttggcGttctcttggtgaaactgtcc	4	15	12	10	1	2	2	0	2	2	0	4	2	3	2	2	3	1	1	2	3	1	3	rs142146326		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:62739570G>A	ENST00000371153.4	-	3	1584	c.1206C>T	c.(1204-1206)aaC>aaT	p.N402N	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	402						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGTCTTTGGCGTTCTCTTGGT	0.522																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	175	146	156		1206	-4.5	0	1	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KANK4	NM_181712.4		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		402/996	62739570	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	27263	protein-coding gene	gene with protein product		614612	"ankyrin repeat domain 38"	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1206C>T	1.37:g.62739570G>A			B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N402	ENST00000371153.4	37	c.1206	CCDS620.1	1																																																																																			KANK4	-	NULL	ENSG00000132854		0.522	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	-	0	82	0	G	NM_181712		62739570	-1	tier1	rs142146326	no_errors	ENST00000371153	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.000	A	A	62739570	G	A	62739570	2	1	87	1	0	0	0	0	0	0	0	1	8006	1136	40	1		1	KANK4	1	62739570	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5201546	62739570	186511051	79	23203											
FOXD3	27022	genome.wustl.edu	37	chr1	63789525	63789525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcctggcggcggcggccGgcgccgcgggaccctacggc	4	2	18	17	8	0	0	0	0	0	0	0	1	0	1	4	7	2	0	4	7	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:63789525G>A	ENST00000371116.2	+	1	796	c.796G>A	c.(796-798)Ggc>Agc	p.G266S	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	266	Poly-Ala.				embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						ggcggcggccggcgccgcggg	0.766																																					Pancreas(68;276 1750 11966 31252)												0													4	5	5					1																	63789525		1442	3225	4667	SO:0001583	missense	0			AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"Forkhead boxes"	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.796G>A	1.37:g.63789525G>A	ENSP00000360157:p.Gly266Ser		Q9BYM2|Q9UDD1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.G266S	ENST00000371116.2	37	c.796	CCDS624.1	1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033945	0.19590	.	.	ENSG00000187140	ENST00000371116	D	0.94092	-3.35	2.21	-0.0906	0.13664	.	2.420060	0.03084	U	0.158822	T	0.62901	0.2466	N	0.08118	0	0.30072	N	0.809994	D	0.62365	0.991	B	0.37780	0.258	T	0.66803	-0.5831	10	0.07482	T	0.82	.	2.7791	0.05356	0.173:0.0:0.5561:0.2709	.	266	Q9UJU5	FOXD3_HUMAN	S	266	ENSP00000360157:G266S	ENSP00000360157:G266S	G	+	1	0	FOXD3	63562113	0.986000	0.35501	0.797000	0.32132	0.230000	0.25150	-0.229000	0.09098	-0.021000	0.14009	0.460000	0.39030	GGC	FOXD3	-	NULL	ENSG00000187140		0.766	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD3	HGNC	protein_coding	OTTHUMT00000025331.1		0	12	0	G			63789525	1			no_errors	ENST00000371116	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.987	A	A	63789525	G	A	63789525	3	1	87	1	0	0	0	0	1	0	0	0	6020	1116	39	1	798	1	FOXD3	1	63789525	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1049955	63789525	185461096	80	23204											
RAVER2	55225	genome.wustl.edu	37	chr1	65296647	65296647	+	Frame_Shift_Del	DEL	A	A	-																															tattacatggaaacttacttAaaaaagaagcgagtatactg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:65296647delA	ENST00000294428.3	+	12	2133	c.2055delA	c.(2053-2055)ttafs	p.L685fs	RAVER2_ENST00000371072.4_Frame_Shift_Del_p.L672fs|RAVER2_ENST00000430964.2_Frame_Shift_Del_p.L224fs			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	685						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AAACTTACTTAAAAAAGAAGC	0.443																																																	0													129	121	123					1																	65296647		1870	4108	5978	SO:0001589	frameshift_variant	0			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.2055delA	1.37:g.65296647delA	ENSP00000294428:p.Leu685fs		Q6P141|Q9NPV7	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K687fs	ENST00000294428.3	37	c.2055		1																																																																																			RAVER2	-	NULL	ENSG00000162437		0.443	RAVER2-201	KNOWN	basic	protein_coding	RAVER2	HGNC	protein_coding			0	65	0	A	NM_018211		65296647	1	tier1		no_errors	ENST00000294428	ensembl	human	known	74_37	frame_shift_del	18.97	47	11	DEL	0.993	-	-	65296647	A	-	65296647	7	5	87	1	0	1	0	1	0	0	0	0	13140	359	13	0	2062	0	RAVER2	1	65296647	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1507122	65296647	183953974	81	23205											
DEPDC1	55635	genome.wustl.edu	37	chr1	68947781	68947781	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaagaattttctgaaagTtctattgtacttttgcagag	13	16	8	4	0	2	3	0	1	2	2	2	3	2	3	0	0	2	4	0	0	6	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:68947781T>G	ENST00000456315.2	-	8	1824	c.1710A>C	c.(1708-1710)gaA>gaC	p.E570D	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	570					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTTCTGAAAGTTCTATTGTAC	0.388																																																	0													129	121	124					1																	68947781		1568	3582	5150	SO:0001583	missense	0			AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1710A>C	1.37:g.68947781T>G	ENSP00000412292:p.Glu570Asp		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom	p.E570D	ENST00000456315.2	37	c.1710	CCDS44159.1	1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414935	0.25465	.	.	ENSG00000024526	ENST00000456315	T	0.10763	2.84	5.72	4.58	0.56647	Rho GTPase activation protein (1);	0.047813	0.85682	D	0.000000	T	0.02193	0.0068	N	0.19112	0.55	0.80722	D	1	P	0.37636	0.603	B	0.28385	0.089	T	0.50734	-0.8793	10	0.29301	T	0.29	.	8.8741	0.35334	0.0:0.0677:0.1259:0.8064	.	570	Q5TB30	DEP1A_HUMAN	D	570	ENSP00000412292:E570D	ENSP00000412292:E570D	E	-	3	2	DEPDC1	68720369	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	0.631000	0.24568	2.182000	0.69389	0.528000	0.53228	GAA	DEPDC1	-	superfamily_Rho_GTPase_activation_prot	ENSG00000024526		0.388	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEPDC1	HGNC	protein_coding	OTTHUMT00000025514.2	-	0	89	0	T	NM_017779		68947781	-1	tier1	-	no_errors	ENST00000456315	ensembl	human	known	74_37	missense	18.67	61	14	SNP	1.000	G	G	68947781	T	G	68947781	3	3	87	1	0	0	0	0	1	0	0	0	4453	1722	60	4	745	4	DEPDC1	1	68947781	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3651134	68947781	180302840	82	23206											
LRRC7	57554	genome.wustl.edu	37	chr1	70225992	70225992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcccactgcagtcttcaGcaggtgccaaaggaggtctt	9	10	10	12	0	3	0	1	0	2	0	4	1	4	1	2	3	4	2	2	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:70225992G>A	ENST00000035383.5	+	1	135	c.105G>A	c.(103-105)caG>caA	p.Q35Q	LRRC7_ENST00000370958.1_Silent_p.Q73Q|LRRC7_ENST00000310961.5_Silent_p.Q40Q|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	35						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCAGTCTTCAGCAGGTGCCAA	0.448																																																	0													78	77	78					1																	70225992		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.105G>A	1.37:g.70225992G>A			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q35	ENST00000035383.5	37	c.105	CCDS645.1	1																																																																																			LRRC7	-	NULL	ENSG00000033122		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	35	0	G	NM_020794		70225992	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	silent	40.54	22	15	SNP	1.000	A	A	70225992	G	A	70225992	2	1	87	1	0	0	0	0	0	0	0	1	9055	962	34	3		3	LRRC7	1	70225992	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1278211	70225992	179024629	83	23207											
FPGT	8790	genome.wustl.edu	37	chr1	74670324	74670324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcatccttctagtttgaCgataggtaccacacatggag	11	11	9	10	1	2	1	1	1	1	0	3	3	3	2	2	2	2	3	2	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:74670324C>T	ENST00000609362.1	+	4	630	c.593C>T	c.(592-594)aCg>aTg	p.T198M	FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.T211M|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	198					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCTAGTTTGACGATAGGTACC	0.373																																																	0													112	108	109					1																	74670324		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.593C>T	1.37:g.74670324C>T	ENSP00000476680:p.Thr198Met		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.T211M	ENST00000609362.1	37	c.632	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283469	0.05642	.	.	ENSG00000254685	ENST00000370898	T	0.32023	1.47	5.57	2.32	0.28847	L-fucokinase (1);	.	.	.	.	T	0.09905	0.0243	L	0.41236	1.265	0.09310	N	1	P	0.35348	0.496	B	0.35114	0.196	T	0.14144	-1.0483	8	.	.	.	.	6.8104	0.23801	0.1392:0.6481:0.0:0.2127	.	198	O14772	FPGT_HUMAN	M	198	ENSP00000359935:T198M	.	T	+	2	0	TNNI3K	74442912	0.000000	0.05858	0.872000	0.34217	0.127000	0.20565	0.156000	0.16382	1.354000	0.45846	0.591000	0.81541	ACG	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.373	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		-	0	54	0	C			74670324	1	tier1	-	no_errors	ENST00000370898	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.018	T	T	74670324	C	T	74670324	3	4	87	1	0	0	0	0	1	0	0	0	6061	536	19	1	607	1	FPGT	1	74670324	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4444332	74670324	174580297	84	23208											
USP33	23032	genome.wustl.edu	37	chr1	78207076	78207076	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacacctccagacatgcccaAagatttggtccttggacttt	10	11	7	13	0	0	2	0	0	0	2	2	3	2	3	4	2	1	0	4	2	1	3	rs143164238	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:78207076A>G	ENST00000370793.1	-	4	559	c.213T>C	c.(211-213)ctT>ctC	p.L71L	USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370792.3_Silent_p.L71L|USP33_ENST00000357428.1_Silent_p.L71L|USP33_ENST00000370794.3_Silent_p.L40L	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	71					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GACATGCCCAAAGATTTGGTC	0.299																																					Melanoma(152;72 1870 11110 26780 42647)												0								A	,,	1,4403	2.1+/-5.4	0,1,2201	85	94	91		213,120,213	3	1	1	dbSNP_134	91	1,8585		0,1,4292	no	coding-synonymous,coding-synonymous,coding-synonymous	USP33	NM_015017.3,NM_201624.1,NM_201626.1	,,	0,2,6493	GG,GA,AA		0.0116,0.0227,0.0154	,,	71/943,40/912,71/829	78207076	2,12988	2202	4293	6495	SO:0001819	synonymous_variant	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.213T>C	1.37:g.78207076A>G			Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L71	ENST00000370793.1	37	c.213	CCDS678.1	1																																																																																			USP33	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP	ENSG00000077254		0.299	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	-	0	88	0	A	NM_015017		78207076	-1	tier1	rs143164238	no_errors	ENST00000357428	ensembl	human	known	74_37	silent	32.53	56	27	SNP	1.000	G	G	78207076	A	G	78207076	2	3	87	1	0	0	0	0	0	0	0	1	17113	1	1	4		4	USP33	1	78207076	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3536752	78207076	171043545	85	23209											
GBP7	388646	genome.wustl.edu	37	chr1	89630424	89630424	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttaccttttccataTcacccaggccctccgtgtcc	5	15	4	17	1	3	0	1	0	2	0	6	0	6	0	6	1	1	0	6	1	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:89630424T>A	ENST00000294671.2	-	3	446	c.308A>T	c.(307-309)gAt>gTt	p.D103V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	103	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTTTTCCATATCACCCAGGCC	0.443																																																	0													96	90	92					1																	89630424		2203	4300	6503	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.308A>T	1.37:g.89630424T>A	ENSP00000294671:p.Asp103Val			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.D103V	ENST00000294671.2	37	c.308	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.545565	0.45280	.	.	ENSG00000213512	ENST00000294671	D	0.85339	-1.97	3.62	2.45	0.29901	Guanylate-binding protein, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	H	0.97240	3.965	0.50171	D	0.999853	D	0.69078	0.997	D	0.66979	0.948	D	0.91270	0.5043	10	0.87932	D	0	.	7.5385	0.27725	0.192:0.0:0.0:0.808	.	103	Q8N8V2	GBP7_HUMAN	V	103	ENSP00000294671:D103V	ENSP00000294671:D103V	D	-	2	0	GBP7	89403012	0.998000	0.40836	0.256000	0.24389	0.703000	0.40648	5.844000	0.69430	0.542000	0.28846	0.379000	0.24179	GAT	GBP7	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000213512		0.443	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	-	0	71	0	T	NM_207398		89630424	-1	tier1	-	no_errors	ENST00000294671	ensembl	human	known	74_37	missense	12.66	69	10	SNP	0.280	A	A	89630424	T	A	89630424	3	1	87	1	0	0	0	0	1	0	0	0	6304	1435	50	5	1644	5	GBP7	1	89630424	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	11423348	89630424	159620197	86	23210											
LRRC8D	55144	genome.wustl.edu	37	chr1	90400757	90400757	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcaaaaacttggagtcActttatttctctaacaacaa	15	13	4	9	0	3	0	2	0	1	0	4	1	3	1	0	1	3	0	0	1	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:90400757A>G	ENST00000337338.5	+	3	2537	c.2130A>G	c.(2128-2130)tcA>tcG	p.S710S	LRRC8D_ENST00000394593.3_Silent_p.S710S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	710					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACTTGGAGTCACTTTATTTCT	0.348																																																	0													68	73	71					1																	90400757		2203	4299	6502	SO:0001819	synonymous_variant	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2130A>G	1.37:g.90400757A>G			D3DT29|Q6UWB2|Q9NVW3	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S710	ENST00000337338.5	37	c.2130	CCDS726.1	1																																																																																			LRRC8D	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171492		0.348	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	-	0	29	0	A	NM_018103		90400757	1	tier1	-	no_errors	ENST00000337338	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.451	G	G	90400757	A	G	90400757	2	3	87	1	0	0	0	0	0	0	0	1	9059	146	6	4		4	LRRC8D	1	90400757	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	770333	90400757	158849864	87	23211											
ZNF326	284695	genome.wustl.edu	37	chr1	90484280	90484280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattcaagaaaacatctattCgtaagcaacagacaaataat	21	9	4	7	1	2	2	1	0	1	2	3	2	2	2	0	0	3	2	0	0	9	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:90484280C>T	ENST00000340281.4	+	9	1254	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	ZNF326_ENST00000370447.3_Missense_Mutation_p.R282C|ZNF326_ENST00000455342.2_Missense_Mutation_p.R165C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	371					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AACATCTATTCGTAAGCAACA	0.259																																																	0													54	60	58					1																	90484280		2199	4287	6486	SO:0001583	missense	0			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"Zinc fingers, C2H2-type"	14104	protein-coding gene	gene with protein product	"ZNF-protein interacting with nuclear mRNPs and DBC1"	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1111C>T	1.37:g.90484280C>T	ENSP00000340796:p.Arg371Cys		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.R371C	ENST00000340281.4	37	c.1111	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422011	0.83559	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.50001	0.76;0.76;0.76	5.56	5.56	0.83823	.	0.118073	0.64402	D	0.000014	T	0.63674	0.2531	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65492	-0.6155	10	0.66056	D	0.02	-8.8962	19.1298	0.93400	0.0:1.0:0.0:0.0	.	371;371	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	371;371;282;165	ENSP00000340796:R371C;ENSP00000359476:R282C;ENSP00000403470:R165C	ENSP00000340796:R371C	R	+	1	0	ZNF326	90256868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.620000	0.88729	0.650000	0.86243	CGT	ZNF326	-	pfam_AKAP95	ENSG00000162664		0.259	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	-	0	45	0	C	NM_181781		90484280	1	tier1	-	no_errors	ENST00000340281	ensembl	human	known	74_37	missense	30.91	38	17	SNP	1.000	T	T	90484280	C	T	90484280	3	4	87	1	0	0	0	0	1	0	0	0	17894	884	31	1	1149	1	ZNF326	1	90484280	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	83523	90484280	158766341	88	23212											
EVI5	7813	genome.wustl.edu	37	chr1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-																															ataaaatacttactttttcaTtttttttgaattgtatttga																								rs200529227		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318																																																	0													76	82	80					1																	93159366		2202	4297	6499	SO:0001589	frameshift_variant	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"neuroblastoma stage 4S gene"	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1222delA	1.37:g.93159366delT	ENSP00000359356:p.Met408fs		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M408fs	ENST00000370331.1	37	c.1222	CCDS30774.1	1																																																																																			EVI5	-	NULL	ENSG00000067208		0.318	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1		0	38	0	T	NM_005665		93159366	-1	tier1		no_errors	ENST00000543509	ensembl	human	known	74_37	frame_shift_del	23.33	46	14	DEL	1.000	-	-	93159366	T	-	93159366	7	5	87	1	0	1	0	1	0	0	0	0	5305	1493	52	0	1250	0	EVI5	1	93159366	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2675086	93159366	156091255	89	23213											
BCAR3	8412	genome.wustl.edu	37	chr1	94041654	94041654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacccccatgttcctcctCatctcttcagagactccaag	8	11	4	18	0	4	1	3	0	1	1	8	2	7	1	5	0	0	1	5	0	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:94041654C>T	ENST00000370244.1	-	10	2007	c.1719G>A	c.(1717-1719)atG>atA	p.M573I	BCAR3_ENST00000260502.6_Missense_Mutation_p.M573I|BCAR3_ENST00000370243.1_Missense_Mutation_p.M573I|BCAR3_ENST00000539242.1_Missense_Mutation_p.M249I|BCAR3_ENST00000370247.3_Missense_Mutation_p.M482I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	573	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGTTCCTCCTCATCTCTTCAG	0.507																																																	0													166	147	153					1																	94041654		2203	4300	6503	SO:0001583	missense	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1719G>A	1.37:g.94041654C>T	ENSP00000359264:p.Met573Ile		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.M573I	ENST00000370244.1	37	c.1719	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170428	0.38315	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.71	4.79	0.61399	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.428589	0.30593	N	0.009291	T	0.12944	0.0314	L	0.49350	1.555	0.31922	N	0.613262	B;B;B	0.17667	0.023;0.006;0.01	B;B;B	0.18561	0.022;0.011;0.008	T	0.07578	-1.0765	10	0.41790	T	0.15	-16.5377	14.9978	0.71446	0.0:0.9309:0.0:0.0691	.	353;573;482	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	I	482;573;573;573;249	ENSP00000359267:M482I;ENSP00000260502:M573I;ENSP00000359264:M573I;ENSP00000359263:M573I;ENSP00000441343:M249I	ENSP00000260502:M573I	M	-	3	0	BCAR3	93814242	0.971000	0.33674	0.829000	0.32907	0.457000	0.32468	0.850000	0.27737	1.391000	0.46566	0.655000	0.94253	ATG	BCAR3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000137936		0.507	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	-	0	37	0	C			94041654	-1	tier1	-	no_errors	ENST00000260502	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	94041654	C	T	94041654	3	4	87	1	0	0	0	0	1	0	0	0	1350	826	29	3	778	3	BCAR3	1	94041654	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	882288	94041654	155208967	90	23214											
DNTTIP2	30836	genome.wustl.edu	37	chr1	94337659	94337659	+	Frame_Shift_Del	DEL	T	T	-																															tggggaagccatctctatcaTttttcttgtaaaatcttttc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:94337659delT	ENST00000436063.2	-	5	2093	c.2036delA	c.(2035-2037)aatfs	p.N679fs		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	679					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATCTCTATCATTTTTCTTGTA	0.378																																																	0													279	273	275					1																	94337659		1861	4103	5964	SO:0001589	frameshift_variant	0			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"acidic 82 kDa protein mRNA"	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2036delA	1.37:g.94337659delT	ENSP00000411010:p.Asn679fs		Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Frame_Shift_Del	DEL	pfam_Fcf2	p.N679fs	ENST00000436063.2	37	c.2036	CCDS44174.1	1																																																																																			DNTTIP2	-	pfam_Fcf2	ENSG00000067334		0.378	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP2	HGNC	protein_coding	OTTHUMT00000028317.2		0	91	0	T	NM_014597		94337659	-1	tier1		no_errors	ENST00000436063	ensembl	human	known	74_37	frame_shift_del	14.63	70	12	DEL	1.000	-	-	94337659	T	-	94337659	7	5	87	1	0	1	0	1	0	0	0	0	4696	1493	52	0	246	0	DNTTIP2	1	94337659	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	296005	94337659	154912962	91	23215											
DPYD	1806	genome.wustl.edu	37	chr1	98060679	98060679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtataaaacccctggtcctgCgtcaggccttggaagatggc	9	9	12	11	1	1	1	1	0	0	1	2	2	2	2	4	4	2	1	4	4	4	3	rs61758443		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:98060679C>T	ENST00000370192.3	-	9	994	c.894G>A	c.(892-894)acG>acA	p.T298T		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	298					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CCTGGTCCTGCGTCAGGCCTT	0.388																																																	0													88	91	90					1																	98060679		2203	4300	6503	SO:0001819	synonymous_variant	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.894G>A	1.37:g.98060679C>T			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Silent	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.T298	ENST00000370192.3	37	c.894	CCDS30777.1	1																																																																																			DPYD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000188641		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	-	0	46	0	C	NM_000110		98060679	-1	tier1	rs61758443	no_errors	ENST00000370192	ensembl	human	known	74_37	silent	14.29	48	8	SNP	0.000	T	T	98060679	C	T	98060679	2	4	87	1	0	0	0	0	0	0	0	1	4759	755	27	1		1	DPYD	1	98060679	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3723020	98060679	151189942	92	23216											
OLFM3	118427	genome.wustl.edu	37	chr1	102296290	102296290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgaaattttgccttcaGccctttcatttgggtttcca	6	16	7	12	1	2	0	2	0	0	0	3	1	3	0	4	1	3	1	4	1	1	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:102296290G>T	ENST00000338858.5	-	3	369	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.L104M|OLFM3_ENST00000359814.3_Missense_Mutation_p.L124M|OLFM3_ENST00000536598.1_Missense_Mutation_p.L29M			Q96PB7	NOE3_HUMAN	olfactomedin 3	124					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTTGCCTTCAGCCCTTTCATT	0.378																																																	0													197	190	192					1																	102296290		2203	4300	6503	SO:0001583	missense	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"optimedin"	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.370C>A	1.37:g.102296290G>T	ENSP00000345192:p.Leu124Met		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.L124M	ENST00000338858.5	37	c.370		1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.028854	0.54790	.	.	ENSG00000118733	ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	T;T;T;T	0.78924	0.43;0.43;-1.22;0.43	5.41	3.51	0.40186	.	0.069254	0.64402	D	0.000019	T	0.75339	0.3836	M	0.68593	2.085	0.37520	D	0.917484	P;P	0.42456	0.631;0.78	P;P	0.52514	0.701;0.661	T	0.78074	-0.2346	10	0.87932	D	0	.	10.0219	0.42048	0.1357:0.1169:0.7474:0.0	.	104;124	Q5T3V6;Q96PB7	.;NOE3_HUMAN	M	104;124;29;124	ENSP00000359121:L104M;ENSP00000345192:L124M;ENSP00000443471:L29M;ENSP00000352867:L124M	ENSP00000345192:L124M	L	-	1	2	OLFM3	102068878	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.991000	0.49409	0.775000	0.33450	-1.128000	0.01989	CTG	OLFM3	-	pfam_Noelin-1,superfamily_Quino_amine_DH_bsu	ENSG00000118733		0.378	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	-	0	62	0	G			102296290	-1	tier1	-	no_errors	ENST00000338858	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	102296290	G	T	102296290	3	4	87	1	0	0	0	0	1	0	0	0	10893	962	34	3	1082	3	OLFM3	1	102296290	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4235611	102296290	146954331	93	23217											
COL11A1	1301	genome.wustl.edu	37	chr1	103488445	103488445	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatcagaatccctgccGtctatttctttgttttcata	10	16	6	9	1	4	3	2	0	2	3	5	3	5	3	2	0	1	1	2	0	4	6	rs369719875		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:103488445G>A	ENST00000370096.3	-	8	1410	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D	COL11A1_ENST00000358392.2_Silent_p.D378D|COL11A1_ENST00000353414.4_Silent_p.D327D|COL11A1_ENST00000512756.1_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	366	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D378D(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AATCCCTGCCGTCTATTTCTT	0.348																																																	1	Substitution - coding silent(1)	prostate(1)						G	,,,	1,4405	2.1+/-5.4	0,1,2202	75	74	74		981,1098,1134,	5.7	1	1		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	COL11A1	NM_001190709.1,NM_001854.3,NM_080629.2,NM_080630.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	327/1768,366/1807,378/1819,	103488445	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1098C>T	1.37:g.103488445G>A			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.D378	ENST00000370096.3	37	c.1134	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	47	0	G	NM_080630		103488445	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	silent	11.90	37	5	SNP	1.000	A	A	103488445	G	A	103488445	2	1	87	1	0	0	0	0	0	0	0	1	3674	1136	40	1		1	COL11A1	1	103488445	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1192155	103488445	145762176	94	23218											
AMY1A	278	genome.wustl.edu	37	chr1	104297163	104297163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgccttctgacagagcGcttgtctttgtggataacca	8	14	9	10	1	3	2	1	1	2	1	3	3	3	3	2	1	3	1	2	1	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:104297163G>A	ENST00000370079.3	+	6	985	c.921G>A	c.(919-921)gcG>gcA	p.A307A		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	307					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CTGACAGAGCGCTTGTCTTTG	0.423																																																	0													120	115	117					1																	104297163		2163	4183	6346	SO:0001819	synonymous_variant	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.921G>A	1.37:g.104297163G>A			A6NJS5|A8K8H6|Q13763|Q5T083	Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.A307	ENST00000370079.3	37	c.921	CCDS30784.1	1																																																																																			AMY1C	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000187733		0.423	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0	94	0	G	NM_001008219		104297163	1	tier1	-	no_errors	ENST00000370079	ensembl	human	known	74_37	silent	21.95	64	18	SNP	0.939	A	A	104297163	G	A	104297163	2	1	87	1	0	0	0	0	0	0	0	1	591	1074	38	1		1	AMY1A	1	104297163	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	808718	104297163	144953458	95	23219											
AMY1A	278	genome.wustl.edu	37	chr1	104297407	104297407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagtaatgtcaagctacCgttggccaagatattttgaa	13	11	9	8	2	1	2	1	1	0	1	1	3	1	2	2	1	2	3	2	1	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:104297407C>T	ENST00000370079.3	+	7	1136	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	358					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GTCAAGCTACCGTTGGCCAAG	0.323																																																	0													45	48	47					1																	104297407		2159	4187	6346	SO:0001583	missense	0				CCDS30784.1	1p21	2012-10-02	2007-05-03		ENSG00000187733	ENSG00000187733	3.2.1.1		476	protein-coding gene	gene with protein product		104702	"amylase, alpha 1C; salivary"	AMY1			Standard	XM_005270761		Approved			P04745	OTTHUMG00000011045	ENST00000370079.3:c.1072C>T	1.37:g.104297407C>T	ENSP00000359096:p.Arg358Cys		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R358C	ENST00000370079.3	37	c.1072	CCDS30784.1	1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604774	0.28623	.	.	ENSG00000187733	ENST00000370079	.	.	.	2.23	-0.171	0.13331	.	0.055619	0.64402	D	0.000002	T	0.62551	0.2437	M	0.88377	2.95	0.58432	D	0.999999	.	.	.	.	.	.	T	0.63386	-0.6649	7	0.46703	T	0.11	.	6.0118	0.19580	0.1841:0.699:0.0:0.1168	.	.	.	.	C	358	.	ENSP00000359096:R358C	R	+	1	0	AMY1C	104098930	0.699000	0.27786	0.638000	0.29380	0.477000	0.33069	1.535000	0.36061	0.261000	0.21753	0.184000	0.17185	CGT	AMY1C	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000187733		0.323	AMY1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1C	HGNC	protein_coding	OTTHUMT00000030375.1	-	0	35	0	C	NM_001008219		104297407	1	tier1	-	no_errors	ENST00000370079	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.999	T	T	104297407	C	T	104297407	3	4	87	1	0	0	0	0	1	0	0	0	591	652	23	1	4250	1	AMY1A	1	104297407	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	244	104297407	144953214	96	23220											
CLCC1	23155	genome.wustl.edu	37	chr1	109482717	109482717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactagtaagagctcatagtAtttttggcatgggtcatcct	10	14	10	7	0	2	1	2	0	0	1	3	2	3	1	1	2	1	4	1	2	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:109482717A>G	ENST00000369971.2	-	8	973	c.844T>C	c.(844-846)Tac>Cac	p.Y282H	CLCC1_ENST00000369969.2_Missense_Mutation_p.Y161H|CLCC1_ENST00000348264.2_Intron|CLCC1_ENST00000482889.1_5'UTR|CLCC1_ENST00000356970.2_Missense_Mutation_p.Y282H|CLCC1_ENST00000415331.1_Missense_Mutation_p.Y232H|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.Y232H|CLCC1_ENST00000302500.4_Missense_Mutation_p.Y161H|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	282						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		AGCTCATAGTATTTTTGGCAT	0.343																																																	0													79	75	77					1																	109482717		2203	4300	6503	SO:0001583	missense	0			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"Mid1-related chloride channel (yeast)"					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.844T>C	1.37:g.109482717A>G	ENSP00000358988:p.Tyr282His		O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.Y282H	ENST00000369971.2	37	c.844	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638069	0.87760	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369970;ENST00000302500	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.72342	0.3448	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;0.999;1.0	T	0.77955	-0.2393	10	0.87932	D	0	-10.0307	15.3709	0.74564	1.0:0.0:0.0:0.0	.	161;232;282	Q96S66-3;Q96S66-2;Q96S66	.;.;CLCC1_HUMAN	H	282;282;232;161;232;161	ENSP00000349456:Y282H;ENSP00000358988:Y282H;ENSP00000411591:Y232H;ENSP00000358986:Y161H;ENSP00000358987:Y232H;ENSP00000306552:Y161H	ENSP00000306552:Y161H	Y	-	1	0	CLCC1	109284240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.879000	0.92398	2.034000	0.60081	0.477000	0.44152	TAC	CLCC1	-	pfam_Chloride_chnl_CLIC-like	ENSG00000121940		0.343	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	-	0	59	0	A	NM_015127		109482717	-1	tier1	-	no_errors	ENST00000356970	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G	G	109482717	A	G	109482717	3	3	87	1	0	0	0	0	1	0	0	0	3467	449	16	4	827	4	CLCC1	1	109482717	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	5185310	109482717	139767904	97	23221											
OVGP1	5016	genome.wustl.edu	37	chr1	111958968	111958968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaccaggatatcattcAatacgtagacaagggggaaa	15	6	10	10	2	2	1	2	0	0	1	2	3	2	3	2	3	1	2	2	3	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:111958968A>G	ENST00000369732.3	-	10	1188	c.1133T>C	c.(1132-1134)tTg>tCg	p.L378S	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	378					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATATCATTCAATACGTAGAC	0.542																																																	0													120	101	108					1																	111958968		2203	4300	6503	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"Mucins"	8524	protein-coding gene	gene with protein product	"oviductin"	603578	"mucin 9"	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1133T>C	1.37:g.111958968A>G	ENSP00000358747:p.Leu378Ser		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L378S	ENST00000369732.3	37	c.1133	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	A	30	5.054375	0.93793	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.42131	0.98	5.06	5.06	0.68205	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.230040	0.36034	N	0.002824	T	0.44623	0.1302	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.87578	0.998;0.617	T	0.50092	-0.8868	10	0.87932	D	0	-20.7274	12.7815	0.57479	1.0:0.0:0.0:0.0	.	378;442	Q12889;Q59HH5	OVGP1_HUMAN;.	S	378;442;186	ENSP00000358747:L378S	ENSP00000358743:L442S	L	-	2	0	OVGP1	111760491	0.830000	0.29337	0.109000	0.21407	0.957000	0.61999	6.321000	0.72881	2.121000	0.65114	0.482000	0.46254	TTG	OVGP1	-	superfamily_Glycoside_hydrolase_SF	ENSG00000085465		0.542	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	-	0	50	0	A	NM_002557		111958968	-1	tier1	-	no_errors	ENST00000369732	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.239	G	G	111958968	A	G	111958968	3	3	87	1	0	0	0	0	1	0	0	0	11364	131	5	4	911	4	OVGP1	1	111958968	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2476251	111958968	137291653	98	23222											
RSBN1	54665	genome.wustl.edu	37	chr1	114319836	114319836	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaaatatttaccgtcGtcttttgaagggtgactttg	13	14	9	5	2	1	3	0	2	1	1	2	3	1	3	1	1	1	0	1	1	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:114319836G>A	ENST00000261441.5	-	4	1717	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	552						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTTACCGTCGTCTTTTGAAG	0.403																																																	0													163	161	162					1																	114319836		2203	4300	6503	SO:0001587	stop_gained	0			AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.1654C>T	1.37:g.114319836G>A	ENSP00000261441:p.Arg552*		A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Nonsense_Mutation	SNP	NULL	p.R552*	ENST00000261441.5	37	c.1654	CCDS862.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.730575	0.97796	.	.	ENSG00000081019	ENST00000261441	.	.	.	5.62	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8739	0.79145	0.0:0.0:0.8634:0.1366	.	.	.	.	X	552	.	ENSP00000261441:R552X	R	-	1	2	RSBN1	114121359	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.484000	0.53201	1.352000	0.45808	0.650000	0.86243	CGA	RSBN1	-	NULL	ENSG00000081019		0.403	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1	HGNC	protein_coding	OTTHUMT00000033022.2	-	0	64	0	G	NM_018364		114319836	-1	tier1	-	no_errors	ENST00000261441	ensembl	human	known	74_37	nonsense	14.52	53	9	SNP	1.000	A	A	114319836	G	A	114319836	4	1	87	1	0	0	0	0	0	1	0	0	13741	1153	40	1	770	1	RSBN1	1	114319836	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2360868	114319836	134930785	99	23223											
SYCP1	6847	genome.wustl.edu	37	chr1	115419373	115419373	+	Frame_Shift_Del	DEL	A	A	-																															taaagtaaaggaagattatgAaaaaatccaacaccttgaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:115419373delA	ENST00000369522.3	+	11	983	c.743delA	c.(742-744)gaafs	p.E248fs	SYCP1_ENST00000369518.1_Frame_Shift_Del_p.E248fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	248					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGATTATGAAAAAATCCAA	0.224																																																	0													20	21	21					1																	115419373		2100	4112	6212	SO:0001589	frameshift_variant	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"cancer/testis antigen 8"	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.743delA	1.37:g.115419373delA	ENSP00000358535:p.Glu248fs		O14963|Q5VXJ6	Frame_Shift_Del	DEL	pfam_SCP-1	p.I250fs	ENST00000369522.3	37	c.743	CCDS879.1	1																																																																																			SYCP1	-	pfam_SCP-1	ENSG00000198765		0.224	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1		0	121	0	A	NM_003176		115419373	1	tier1		no_errors	ENST00000369518	ensembl	human	known	74_37	frame_shift_del	27.27	88	33	DEL	1.000	-	-	115419373	A	-	115419373	7	5	87	1	0	1	0	1	0	0	0	0	15478	246	9	0	781	0	SYCP1	1	115419373	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1099537	115419373	133831248	100	23224											
NHLH2	4808	genome.wustl.edu	37	chr1	116380789	116380789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcgcgccggcggcggcGcttctcctcgcggctcagct	1	7	16	17	9	2	0	1	0	1	0	4	0	2	0	2	5	1	3	2	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:116380789G>A	ENST00000369506.1	-	1	5749	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	NHLH2_ENST00000320238.3_Missense_Mutation_p.R69C			Q02577	HEN2_HUMAN	nescient helix loop helix 2	69	Poly-Arg.				cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGGCGGCGGCGCTTCTCCTCG	0.746																																																	0													8	10	9					1																	116380789		2113	4032	6145	SO:0001583	missense	0				CCDS885.1	1p12-p11	2013-05-21			ENSG00000177551	ENSG00000177551		"Basic helix-loop-helix proteins"	7818	protein-coding gene	gene with protein product		162361		HEN2		1528853	Standard	NM_005599		Approved	NSCL2, bHLHa34	uc001efy.3	Q02577	OTTHUMG00000011969	ENST00000369506.1:c.205C>T	1.37:g.116380789G>A	ENSP00000358519:p.Arg69Cys		Q5T1P6	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R69C	ENST00000369506.1	37	c.205	CCDS885.1	1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398723	0.62177	.	.	ENSG00000177551	ENST00000320238;ENST00000369506;ENST00000429731	D;D	0.97352	-4.35;-4.35	4.49	3.58	0.41010	Helix-loop-helix DNA-binding (1);	0.000000	0.64402	D	0.000001	D	0.83972	0.5370	N	0.08118	0	0.80722	D	1	P	0.48589	0.912	B	0.34242	0.178	D	0.85628	0.1268	10	0.51188	T	0.08	-14.9135	8.8185	0.35011	0.0806:0.0:0.7706:0.1488	.	69	Q02577	HEN2_HUMAN	C	69	ENSP00000322087:R69C;ENSP00000358519:R69C	ENSP00000322087:R69C	R	-	1	0	NHLH2	116182312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.100000	0.57762	0.890000	0.36211	0.561000	0.74099	CGC	NHLH2	-	pfscan_bHLH_dom	ENSG00000177551		0.746	NHLH2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NHLH2	HGNC	protein_coding	OTTHUMT00000033090.1	-	0	50	0	G	NM_005599		116380789	-1	tier1	-	no_errors	ENST00000320238	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A	A	116380789	G	A	116380789	3	1	87	1	0	0	0	0	1	0	0	0	10443	1087	38	1	206	1	NHLH2	1	116380789	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	961416	116380789	132869832	101	23225											
ATP1A1	476	genome.wustl.edu	37	chr1	116926693	116926693	+	Frame_Shift_Del	DEL	A	A	-																															aacaaggtgataaaaagggcAaaaagggcaaaaaagacagg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:116926693delA	ENST00000295598.5	+	2	322	c.70delA	c.(70-72)aaafs	p.K25fs	AL136376.1_ENST00000598661.1_Frame_Shift_Del_p.L9fs|ATP1A1_ENST00000369496.4_5'UTR|ATP1A1_ENST00000537345.1_Frame_Shift_Del_p.K25fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	25					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TAAAAAGGGCAAAAAGGGCAA	0.393																																																	0													93	91	92					1																	116926693		2203	4300	6503	SO:0001589	frameshift_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.70delA	1.37:g.116926693delA	ENSP00000295598:p.Lys25fs		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.K25fs	ENST00000295598.5	37	c.70	CCDS887.1	1																																																																																			ATP1A1	-	NULL	ENSG00000163399		0.393	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0	91	0	A	NM_001160233		116926693	1	tier1		no_errors	ENST00000295598	ensembl	human	known	74_37	frame_shift_del	28.33	43	17	DEL	1.000	-	-	116926693	A	-	116926693	7	5	87	1	0	1	0	1	0	0	0	0	1129	131	5	0	92	0	ATP1A1	1	116926693	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	545904	116926693	132323928	102	23226											
SPAG17	200162	genome.wustl.edu	37	chr1	118509241	118509241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggatatttgcttccaCaggtaggaacagaacctcat	14	11	8	8	0	1	1	1	0	0	1	2	3	2	3	2	3	3	2	2	3	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:118509241C>T	ENST00000336338.5	-	47	6588	c.6523G>A	c.(6523-6525)Gtg>Atg	p.V2175M		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2175						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGCTTCCACAGGTAGGAAC	0.408																																																	0													140	134	136					1																	118509241		2203	4300	6503	SO:0001583	missense	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6523G>A	1.37:g.118509241C>T	ENSP00000337804:p.Val2175Met		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.V2175M	ENST00000336338.5	37	c.6523	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245771	0.80024	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.24723	1.84	5.5	5.5	0.81552	.	0.181068	0.34676	N	0.003773	T	0.41604	0.1166	M	0.67953	2.075	0.32771	N	0.503754	D	0.89917	1.0	D	0.91635	0.999	T	0.41698	-0.9494	10	0.87932	D	0	.	16.3053	0.82846	0.0:1.0:0.0:0.0	.	2175	Q6Q759	SPG17_HUMAN	M	2175;655	ENSP00000337804:V2175M	ENSP00000337804:V2175M	V	-	1	0	SPAG17	118310764	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	4.450000	0.60041	2.570000	0.86706	0.655000	0.94253	GTG	SPAG17	-	NULL	ENSG00000155761		0.408	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0	53	0	C	NM_206996		118509241	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.999	T	T	118509241	C	T	118509241	3	4	87	1	0	0	0	0	1	0	0	0	15026	478	17	3	156	3	SPAG17	1	118509241	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1582548	118509241	130741380	103	23227											
WARS2	10352	genome.wustl.edu	37	chr1	119575742	119575742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatgcccgcgctgcggCgcaccacttcctccacggag	5	8	11	17	5	1	0	1	0	0	0	3	1	3	1	4	2	2	3	4	2	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:119575742C>A	ENST00000235521.4	-	6	901	c.875G>T	c.(874-876)cGc>cTc	p.R292L	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.R198L	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	292					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CGCGCTGCGGCGCACCACTTC	0.602																																																	0													70	71	71					1																	119575742		2203	4300	6503	SO:0001583	missense	0			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"Aminoacyl tRNA synthetases / Class I"	12730	protein-coding gene	gene with protein product	"tryptophan tRNA ligase 2, mitochondrial"	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.875G>T	1.37:g.119575742C>A	ENSP00000235521:p.Arg292Leu		B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase	p.R292L	ENST00000235521.4	37	c.875	CCDS900.1	1	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660932	0.14645	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.51071	0.72;0.72	5.87	1.93	0.25924	.	0.586898	0.19837	N	0.104953	T	0.19565	0.0470	L	0.28649	0.875	0.21984	N	0.999437	B;B	0.25390	0.125;0.023	B;B	0.35727	0.209;0.049	T	0.29822	-0.9999	10	0.37606	T	0.19	-2.862	9.9293	0.41512	0.0:0.6068:0.0:0.3932	.	235;292	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	L	292;198	ENSP00000235521:R292L;ENSP00000438807:R198L	ENSP00000235521:R292L	R	-	2	0	WARS2	119377265	0.000000	0.05858	0.180000	0.23079	0.005000	0.04900	0.027000	0.13621	0.411000	0.25702	-0.136000	0.14681	CGC	WARS2	-	pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase	ENSG00000116874		0.602	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WARS2	HGNC	protein_coding	OTTHUMT00000034362.1		0	40	0	C	NM_015836		119575742	-1			no_errors	ENST00000235521	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.379	A	A	119575742	C	A	119575742	3	1	87	1	0	0	0	0	1	0	0	0	17299	768	27	2	211	2	WARS2	1	119575742	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1066501	119575742	129674879	104	23228											
ADAM30	11085	genome.wustl.edu	37	chr1	120437822	120437823	+	Frame_Shift_Ins	INS	-	-	A																															gctcccgaagagatatgtttINSaaaaaaagagatataactgc																								rs139123456		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:120437822_120437823insA	ENST00000369400.1	-	1	1295_1296	c.1137_1138insT	c.(1135-1140)tttaaafs	p.K380fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	380	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GAGATATGTTTAAAAAAAGAGA	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"ADAM metallopeptidase domain containing"	208	protein-coding gene	gene with protein product		604779	"a disintegrin and metalloproteinase domain 30"				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1138dupT	1.37:g.120437829_120437829dupA	ENSP00000358407:p.Lys380fs		A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Ins	INS	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.K379fs	ENST00000369400.1	37	c.1138_1137	CCDS907.1	1																																																																																			ADAM30	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134249		0.401	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1		0	54	0	0	NM_021794		120437823	-1			no_errors	ENST00000369400	ensembl	human	known	74_37	frame_shift_ins	10.17	53	6	INS	0.000:0.000	A	A	120437823	-	A	120437822	7	5	87	1	0	1	1	0	0	0	0	0	248	1763	61	0	1238	0	ADAM30	1	120437822	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	862080	120437822	128812799	105	23229											
PDE4DIP	9659	genome.wustl.edu	37	chr1	145075830	145075830	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccaaagtcgcatcggcgGcggcagcaggacccgctgtc	8	4	14	15	5	0	0	0	0	0	0	3	1	0	1	2	4	2	4	2	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:145075830G>T	ENST00000530740.1	-	1	71	c.33C>A	c.(31-33)cgC>cgA	p.R11R	PDE4DIP_ENST00000369359.4_Silent_p.R11R|PDE4DIP_ENST00000369348.3_Silent_p.R11R|PDE4DIP_ENST00000369345.4_Silent_p.R11R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGCATCGGCGGCGGCAGCAGG	0.672			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													39	48	45					1																	145075830		2171	4270	6441	SO:0001819	synonymous_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"myomegalin"	608117	"cardiomyopathy associated 2"	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.33C>A	1.37:g.145075830G>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc	p.R11	ENST00000530740.1	37	c.33		1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.672	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000384663.2	-	0	154	0	G	NM_022359		145075830	-1	tier1	-	no_errors	ENST00000369348	ensembl	human	known	74_37	silent	8.55	107	10	SNP	0.993	T	T	145075830	G	T	145075830	2	4	87	1	0	0	0	0	0	0	0	1	11682	1190	42	3		3	PDE4DIP	1	145075830	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	24638008	145075830	104174791	106	23230											
NBPF10	100132406	genome.wustl.edu	37	chr1	145299885	145299886	+	Frame_Shift_Del	DEL	AA	AA	-																															agttcagaaacctcaaagagAaatgttttctaactcaactg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:145299885_145299886delAA	ENST00000369338.1	+	2	311_312	c.121_122delAA	c.(121-123)aaafs	p.K41fs	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Frame_Shift_Del_p.K312fs|NBPF10_ENST00000369339.3_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	312						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTCAAAGAGAAATGTTTTCTA	0.431																																																	0																																										SO:0001589	frameshift_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"neuroblastoma breakpoint family"	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369338.1:c.121_122delAA	1.37:g.145299885_145299886delAA	ENSP00000358344:p.Lys41fs		Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	pfam_NBPF_dom	p.K312fs	ENST00000369338.1	37	c.934_935		1																																																																																			NBPF10	-	NULL	ENSG00000163386		0.431	NBPF10-003	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038552.1		0	485	0	AA	NM_001039703		145299886	1	tier1		no_errors	ENST00000342960	ensembl	human	known	74_37	frame_shift_del	9.84	385	42	DEL	0.122:0.118	-	-	145299886	AA	-	145299885	7	5	87	1	0	1	0	1	0	0	0	0	10231	247	9	0	956	0	NBPF10	1	145299885	Frame_Shift_Del	DEL	AA	TCGA-L5-A8NM-01A-11D-A37C-09	224055	145299885	103950736	107	23231											
PIAS3	10401	genome.wustl.edu	37	chr1	145585419	145585419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttggccacttcttccagTaccgagggaccccttctcac	6	10	7	18	1	2	0	1	0	2	0	4	2	3	1	6	2	1	1	6	2	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:145585419T>C	ENST00000393045.2	+	14	1774	c.1684T>C	c.(1684-1686)Tac>Cac	p.Y562H	PIAS3_ENST00000369298.1_Missense_Mutation_p.Y527H|NUDT17_ENST00000444015.2_5'Flank	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	562					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTCTTCCAGTACCGAGGGAC	0.597																																																	0													97	98	97					1																	145585419		2203	4300	6503	SO:0001583	missense	0			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"Zinc fingers, MIZ-type"	16861	protein-coding gene	gene with protein product	"zinc finger, MIZ-type containing 5"	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1684T>C	1.37:g.145585419T>C	ENSP00000376765:p.Tyr562His		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.Y562H	ENST00000393045.2	37	c.1684	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144025	0.77888	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.38077	1.16;1.17	5.15	5.15	0.70609	.	0.104147	0.41712	D	0.000829	T	0.37265	0.0997	L	0.50333	1.59	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.30357	-0.9981	10	0.72032	D	0.01	-8.8155	12.9634	0.58472	0.0:0.0:0.0:1.0	.	562	Q9Y6X2	PIAS3_HUMAN	H	562;527	ENSP00000376765:Y562H;ENSP00000358304:Y527H	ENSP00000358304:Y527H	Y	+	1	0	PIAS3	144296776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.256000	0.65468	2.164000	0.68074	0.459000	0.35465	TAC	PIAS3	-	NULL	ENSG00000131788		0.597	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	-	0	38	0	T	NM_006099		145585419	1	tier1	-	no_errors	ENST00000393045	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	C	C	145585419	T	C	145585419	3	2	87	1	0	0	0	0	1	0	0	0	11916	1638	57	4	1738	4	PIAS3	1	145585419	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	285534	145585419	103665202	108	23232											
BOLA1	51027	genome.wustl.edu	37	chr1	149871915	149871915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggagctgggaggtccggtCcatgcgctggccatccaggc	6	6	17	12	2	0	0	0	0	0	0	3	3	3	2	4	6	2	2	4	6	0	0	rs149389122		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:149871915C>T	ENST00000369153.2	+	3	967	c.303C>T	c.(301-303)gtC>gtT	p.V101V	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Silent_p.V101V|BOLA1_ENST00000369150.1_Silent_p.V101V			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	101						extracellular region (GO:0005576)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GAGGTCCGGTCCATGCGCTGG	0.652													C|||	1	0.000199681	8e-04	0	5008	,	,		14067	0		0	False		,,,				2504	0																0								C		2,4404	4.2+/-10.8	0,2,2201	30	32	31		303	-1.2	0.8	1	dbSNP_134	31	0,8600		0,0,4300	no	coding-synonymous	BOLA1	NM_016074.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		101/138	149871915	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"bolA-like 1 (E. coli)", "bolA homolog 1 (E. coli)"			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.303C>T	1.37:g.149871915C>T			B2R7K2|D3DUZ4|Q5QNY0	Silent	SNP	pfam_BolA,superfamily_BolA	p.V101	ENST00000369153.2	37	c.303	CCDS939.1	1																																																																																			BOLA1	-	pfam_BolA,superfamily_BolA	ENSG00000178096		0.652	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BOLA1	HGNC	protein_coding	OTTHUMT00000033443.2	-	0	53	0	C	NM_016074		149871915	1	tier1	rs149389122	no_errors	ENST00000369150	ensembl	human	known	74_37	silent	23.53	39	12	SNP	0.722	T	T	149871915	C	T	149871915	2	4	87	1	0	0	0	0	0	0	0	1	1487	842	30	3		3	BOLA1	1	149871915	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4286496	149871915	99378706	109	23233											
OTUD7B	56957	genome.wustl.edu	37	chr1	149936187	149936187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgccacctccagcgccttTtcaacgcttccttctcaact	6	12	5	18	2	2	0	2	0	1	0	5	0	4	0	5	0	4	2	5	0	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:149936187T>C	ENST00000369135.4	-	6	986	c.692A>G	c.(691-693)aAa>aGa	p.K231R	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	231	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGCGCCTTTTCAACGCTTC	0.512																																																	0													109	120	117					1																	149936187		2111	4243	6354	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.692A>G	1.37:g.149936187T>C	ENSP00000358131:p.Lys231Arg		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.K231R	ENST00000369135.4	37	c.692	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	T	11.71	1.720551	0.30503	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.28454	1.61;1.61	4.87	1.12	0.20585	Ovarian tumour, otubain (2);	0.096756	0.64402	N	0.000001	T	0.09730	0.0239	L	0.40543	1.245	0.42190	D	0.991721	B;B	0.15719	0.014;0.006	B;B	0.25614	0.028;0.062	T	0.10683	-1.0619	9	.	.	.	0.7426	8.4734	0.32999	0.0:0.2379:0.0:0.7621	.	231;231	B7Z643;Q6GQQ9	.;OTU7B_HUMAN	R	231	ENSP00000358131:K231R;ENSP00000408231:K231R	.	K	-	2	0	OTUD7B	148202811	0.959000	0.32827	0.812000	0.32479	0.809000	0.45718	0.877000	0.28106	0.087000	0.17167	0.533000	0.62120	AAA	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.512	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0	64	0	T	NM_020205		149936187	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	149936187	T	C	149936187	3	2	87	1	0	0	0	0	1	0	0	0	11358	1841	64	4	1867	4	OTUD7B	1	149936187	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	64272	149936187	99314434	110	23234											
OTUD7B	56957	genome.wustl.edu	37	chr1	149949403	149949403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctctgctcctgtggAacggacaaaatctgacagaa	11	8	10	12	1	2	2	0	1	2	1	3	4	3	4	2	3	2	2	2	3	4	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:149949403A>G	ENST00000369135.4	-	2	337	c.43T>C	c.(43-45)Tcc>Ccc	p.S15P		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	15					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCTCCTGTGGAACGGACAAAA	0.448																																																	0													149	145	146					1																	149949403		1983	4161	6144	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.43T>C	1.37:g.149949403A>G	ENSP00000358131:p.Ser15Pro		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S15P	ENST00000369135.4	37	c.43	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.540771	0.85917	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.34667	1.35;1.43	5.16	5.16	0.70880	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.42032	-0.9475	9	.	.	.	-8.0527	13.9707	0.64237	1.0:0.0:0.0:0.0	.	15	Q6GQQ9	OTU7B_HUMAN	P	15	ENSP00000358131:S15P;ENSP00000408231:S15P	.	S	-	1	0	OTUD7B	148216027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.351000	0.90072	2.180000	0.69256	0.533000	0.62120	TCC	OTUD7B	-	superfamily_UBA-like	ENSG00000163113		0.448	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0	53	0	A	NM_020205		149949403	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	G	G	149949403	A	G	149949403	3	3	87	1	0	0	0	0	1	0	0	0	11358	246	9	4	2532	4	OTUD7B	1	149949403	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	13216	149949403	99301218	111	23235											
VPS45	11311	genome.wustl.edu	37	chr1	150049819	150049819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattgctccttattttaGatcgctgtgatgatgccatc	7	16	7	11	1	0	3	0	2	0	1	4	3	2	3	3	0	2	2	3	0	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:150049819G>T	ENST00000369130.3	+	7	1195	c.649G>T	c.(649-651)Gat>Tat	p.D217Y	VPS45_ENST00000369128.5_Missense_Mutation_p.D112Y|VPS45_ENST00000535106.1_Missense_Mutation_p.D148Y	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	217					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTATTTTAGATCGCTGTGA	0.388																																																	0													150	136	141					1																	150049819		2203	4300	6503	SO:0001583	missense	0			U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)"	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.649G>T	1.37:g.150049819G>T	ENSP00000358126:p.Asp217Tyr		D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.D217Y	ENST00000369130.3	37	c.649	CCDS944.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716427	0.89205	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000543996;ENST00000535106;ENST00000419023	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.97901	0.9310	H	0.95043	3.615	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;1.0;0.999	D	0.98389	1.0562	10	0.87932	D	0	.	19.2318	0.93843	0.0:0.0:1.0:0.0	.	112;181;217;37;217	F5H8K1;B7Z7G7;Q53FR8;A0AR27;Q9NRW7	.;.;.;.;VPS45_HUMAN	Y	217;112;92;148;148	ENSP00000358126:D217Y;ENSP00000358124:D112Y;ENSP00000440690:D148Y;ENSP00000400143:D148Y	ENSP00000358124:D112Y	D	+	1	0	VPS45	148316443	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.478000	0.97927	2.865000	0.98341	0.655000	0.94253	GAT	VPS45	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136631		0.388	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS45	HGNC	protein_coding	OTTHUMT00000034964.1	-	0	45	0	G	NM_007259		150049819	1	tier1	-	no_errors	ENST00000369130	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	T	T	150049819	G	T	150049819	3	4	87	1	0	0	0	0	1	0	0	0	17260	942	33	3	675	3	VPS45	1	150049819	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	100416	150049819	99200802	112	23236											
CA14	23632	genome.wustl.edu	37	chr1	150236993	150236995	+	Splice_Site	DEL	GAA	GAA	-																															tgagccattcccctttccagGaagaagaggctggaaaaccg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:150236993_150236995delGAA	ENST00000369111.4	+	11	1918_1920	c.948_950delGAA	c.(946-951)cggaag>cgg	p.K318del	APH1A_ENST00000461320.1_5'Flank|snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	318					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.R316R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CCCTTTCCAGGAAGAAGAGGCTG	0.458																																																	1	Substitution - coding silent(1)	central_nervous_system(1)																																								SO:0001630	splice_region_variant	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.948-1GAA>-	1.37:g.150236996_150236998delGAA			Q5TB24|Q8NCF4	In_Frame_Del	DEL	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.K318in_frame_del	ENST00000369111.4	37	c.948_950	CCDS947.1	1																																																																																			CA14	-	NULL	ENSG00000118298		0.458	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2		0	54	0	GAA	NM_012113	In_Frame_Del	150236995	1	tier1		no_errors	ENST00000369111	ensembl	human	known	74_37	in_frame_del	20.51	31	8	DEL	1.000:1.000:1.000	-	-	150236995	GAA	-	150236993	8	5	87	1	0	1	0	1	0	0	1	0	2522	1188	41	0	990	0	CA14	1	150236993	Splice_Site	DEL	GAA	TCGA-L5-A8NM-01A-11D-A37C-09	187174	150236993	99013628	113	23237											
SETDB1	9869	genome.wustl.edu	37	chr1	150936218	150936218	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggccgctacctcaacGtgagacccctctccccacct	7	7	7	20	2	2	1	1	1	1	1	3	2	2	1	8	1	2	1	8	1	2	1	rs111660370		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:150936218G>A	ENST00000271640.5	+	20	3859		c.e20+1		RP11-316M1.12_ENST00000560481.1_RNA|CERS2_ENST00000561294.1_3'UTR|RP11-316M1.12_ENST00000561111.1_RNA|SETDB1_ENST00000368969.4_Splice_Site|CERS2_ENST00000345896.4_5'Flank	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACCTCAACGTGAGACCCCT	0.468																																																	0													71	62	65					1																	150936218		2203	4300	6503	SO:0001630	splice_region_variant	0			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"Chromatin-modifying enzymes / K-methyltransferases", "Tudor domain containing"	10761	protein-coding gene	gene with protein product	"tudor domain containing 21"	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.3669+1G>A	1.37:g.150936218G>A			A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Splice_Site	SNP	-	e19+1	ENST00000271640.5	37	c.3669+1	CCDS44217.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.070487|4.070487	0.76301|0.76301	.|.	.|.	ENSG00000143379|ENSG00000143379	ENST00000271640;ENST00000368969|ENST00000498193	.|T	.|0.35789	.|1.29	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56292	.|0.1975	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.54330	.|-0.8310	.|7	.|.	.|.	.|.	.|.	19.7359|19.7359	0.96202|0.96202	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1224	.|E9PRF4	.|.	.|M	-1|1224	.|ENSP00000432348:V1224M	.|.	.|V	+|+	.|1	.|0	SETDB1|SETDB1	149202842|149202842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.706000|0.706000	0.40770|0.40770	9.806000|9.806000	0.99153|0.99153	2.672000|2.672000	0.90937|0.90937	0.462000|0.462000	0.41574|0.41574	.|GTG	SETDB1	-	-	ENSG00000143379		0.468	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	HGNC	protein_coding	OTTHUMT00000084717.2	-	0	44	0	G		Intron	150936218	1	tier1	-	no_errors	ENST00000271640	ensembl	human	known	74_37	splice_site	20.00	36	9	SNP	1.000	A	A	150936218	G	A	150936218	5	1	87	1	0	0	0	0	0	0	1	0	14183	1159	40	1	3744	1	SETDB1	1	150936218	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	699225	150936218	98314403	114	23238											
SEMA6C	10500	genome.wustl.edu	37	chr1	151106894	151106894	+	Frame_Shift_Del	DEL	G	G	-																															caccataagcagaatccccaGggccagactgactcccagta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151106894delG	ENST00000341697.3	-	18	3433	c.1742delC	c.(1741-1743)cctfs	p.P581fs	SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	581					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGAATCCCCAGGGCCAGACTG	0.542																																																	0													78	58	64					1																	151106894		2203	4300	6503	SO:0001589	frameshift_variant	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1742delC	1.37:g.151106894delG	ENSP00000344148:p.Pro581fs		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Frame_Shift_Del	DEL	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.P581fs	ENST00000341697.3	37	c.1742	CCDS984.1	1																																																																																			SEMA6C	-	NULL	ENSG00000143434		0.542	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1		0	40	0	G	NM_030913		151106894	-1	tier1		no_errors	ENST00000368913	ensembl	human	known	74_37	frame_shift_del	20.51	31	8	DEL	0.334	-	-	151106894	G	-	151106894	7	5	87	1	0	1	0	1	0	0	0	0	14086	1000	35	0	1158	0	SEMA6C	1	151106894	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	170676	151106894	98143727	115	23239											
VPS72	6944	genome.wustl.edu	37	chr1	151149461	151149461	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggggttgacgggtccagTcccagcatgaggagtcaatg	9	7	17	8	1	1	2	1	2	0	0	3	3	3	3	2	5	1	2	2	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151149461T>A	ENST00000354473.4	-	6	823	c.787A>T	c.(787-789)Act>Tct	p.T263S	TMOD4_ENST00000601585.1_5'Flank|TMOD4_ENST00000416280.2_5'Flank|VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	252					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACGGGTCCAGTCCCAGCATGA	0.527																																					Pancreas(109;1131 2287 3209 24201)												0													31	35	34					1																	151149461		2202	4300	6502	SO:0001583	missense	0			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.787A>T	1.37:g.151149461T>A	ENSP00000346464:p.Thr263Ser		A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	pfam_YL1,pfam_YL1_C	p.T252S	ENST00000354473.4	37	c.754	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	.	6.745	0.506177	0.12883	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.41	3.04	0.35103	.	0.166125	0.53938	D	0.000044	T	0.04815	0.0130	N	0.14661	0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.41270	-0.9518	9	0.05436	T	0.98	1.269	6.7962	0.23727	0.0:0.0805:0.3614:0.558	.	252	Q15906	VPS72_HUMAN	S	252;263	.	ENSP00000346464:T263S	T	-	1	0	VPS72	149416085	0.380000	0.25131	0.023000	0.16930	0.019000	0.09904	0.546000	0.23284	1.059000	0.40554	-0.429000	0.05907	ACT	VPS72	-	NULL	ENSG00000163159		0.527	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	-	0	47	0	T	NM_005997		151149461	-1	tier1	-	no_errors	ENST00000368892	ensembl	human	known	74_37	missense	17.50	31	7	SNP	0.116	A	A	151149461	T	A	151149461	3	1	87	1	0	0	0	0	1	0	0	0	17266	1667	58	5	344	5	VPS72	1	151149461	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	42567	151149461	98101160	116	23240											
ZNF687	57592	genome.wustl.edu	37	chr1	151261173	151261173	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcacgtctctcgccgtgTaggatacaggtgcctcggac	6	10	12	13	4	2	0	0	0	2	0	5	2	2	2	2	3	3	2	2	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151261173T>C	ENST00000368879.2	+	3	2383	c.2285T>C	c.(2284-2286)gTa>gCa	p.V762A		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	762					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCGCCGTGTAGGATACAGG	0.567																																																	0													105	98	100					1																	151261173		2203	4300	6503	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2285T>C	1.37:g.151261173T>C	ENSP00000357874:p.Val762Ala		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V762A	ENST00000368879.2	37	c.2285		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.4|27.4	4.829873|4.829873	0.91036|0.91036	.|.	.|.	ENSG00000143373|ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879|ENST00000426871	T;T;T|.	0.02345|.	4.33;4.33;4.33|.	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|.	0.32147|.	N|.	0.006501|.	T|.	0.36963|.	0.0986|.	N|N	0.20986|0.20986	0.625|0.625	0.43703|0.43703	D|D	0.996169|0.996169	P;B|.	0.35401|.	0.499;0.006|.	B;B|.	0.33620|.	0.167;0.013|.	T|.	0.29941|.	-0.9995|.	10|.	0.66056|.	D|.	0.02|.	.|.	13.6013|13.6013	0.62020|0.62020	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	762;762|.	Q8N1G0-2;Q8N1G0|.	.;ZN687_HUMAN|.	A|Q	762|365	ENSP00000336620:V762A;ENSP00000319829:V762A;ENSP00000357874:V762A|.	ENSP00000319829:V762A|.	V|X	+|+	2|1	0|0	ZNF687|ZNF687	149527797|149527797	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.916000|0.916000	0.54674|0.54674	7.744000|7.744000	0.85034|0.85034	2.052000|2.052000	0.61016|0.61016	0.459000|0.459000	0.35465|0.35465	GTA|TAG	ZNF687	-	NULL	ENSG00000143373		0.567	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding		-	0	63	0	T	NM_020832		151261173	1	tier1	-	no_errors	ENST00000324048	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.966	C	C	151261173	T	C	151261173	3	2	87	1	0	0	0	0	1	0	0	0	18140	1638	57	4	2291	4	ZNF687	1	151261173	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	111712	151261173	97989448	117	23241											
ZNF687	5298	genome.wustl.edu	37	chr1	151262391	151262391	+	IGR	DEL	G	G	-																															aaggcctcaagggtgggggtGgggggcctggaggctggacc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151262391delG	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Frame_Shift_Del_p.G959fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGTGGGGGTGGGGGGCCTGG	0.627																																					Colon(154;765 1838 9854 28443 37492)												0													9	11	10					1																	151262391		2153	4235	6388	SO:0001628	intergenic_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262391delG			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P960fs	ENST00000368873.1	37	c.2872		1																																																																																			ZNF687	-	NULL	ENSG00000143373		0.627	PI4KB-002	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding	OTTHUMT00000034400.3		0	102	0	G	NM_002651		151262391	1	tier1		no_errors	ENST00000324048	ensembl	human	known	74_37	frame_shift_del	23.66	71	22	DEL	0.884	-	-	151262391	G	-	151262391	6	5	87	0	1	1	0	1	0	0	0	0	18140	1348	47	0		0	ZNF687	1	151262391	IGR	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	1218	151262391	97988230	118	23242											
RFX5	5993	genome.wustl.edu	37	chr1	151318680	151318680	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagatgtgatgagtacttaCgaaatggtacctcggagcct	11	10	13	7	2	0	3	0	2	0	1	1	6	0	4	2	3	4	2	2	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:151318680C>T	ENST00000290524.4	-	3	295		c.e3+1		RFX5_ENST00000478564.1_Splice_Site|RFX5_ENST00000452671.2_Splice_Site|RFX5_ENST00000368870.2_Splice_Site|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452513.2_Splice_Site	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTACTTACGAAATGGTAC	0.552																																																	0													115	116	116					1																	151318680		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.116+1G>A	1.37:g.151318680C>T			B7Z848|D3DV19|E9PFU4|Q5VWC3	Splice_Site	SNP	-	e1+1	ENST00000290524.4	37	c.116+1	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328399	0.81690	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484;ENST00000430227;ENST00000412774;ENST00000437327;ENST00000436271	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6052	0.62044	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFX5	149585304	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.841000	0.55850	2.591000	0.87537	0.491000	0.48974	.	RFX5	-	-	ENSG00000143390		0.552	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	-	0	56	0	C	NM_000449	Intron	151318680	-1	tier1	-	no_errors	ENST00000290524	ensembl	human	known	74_37	splice_site	19.70	53	13	SNP	1.000	T	T	151318680	C	T	151318680	5	4	87	1	0	0	0	0	0	0	1	0	13311	550	19	1	1769	1	RFX5	1	151318680	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	56289	151318680	97931941	119	23243											
TCHH	7062	genome.wustl.edu	37	chr1	152080543	152080543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagttcctggcggCgcagctgctgttcctcctgg	2	13	11	15	2	1	0	0	0	1	0	6	0	5	0	4	3	2	5	4	3	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152080543C>T	ENST00000368804.1	-	2	5149	c.5150G>A	c.(5149-5151)cGc>cAc	p.R1717H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1717	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1717L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTGGCGGCGCAGCTGCTG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											52	53	53					1																	152080543		1870	4109	5979	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5150G>A	1.37:g.152080543C>T	ENSP00000357794:p.Arg1717His		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1717H	ENST00000368804.1	37	c.5150	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249948	0.22880	.	.	ENSG00000159450	ENST00000368804	T	0.10288	2.89	4.49	-4.1	0.03940	.	.	.	.	.	T	0.03178	0.0093	M	0.71036	2.16	0.09310	N	1	B	0.29508	0.246	B	0.15052	0.012	T	0.38156	-0.9674	9	0.44086	T	0.13	-0.1337	5.0576	0.14540	0.5439:0.1981:0.0:0.258	.	1717	Q07283	TRHY_HUMAN	H	1717	ENSP00000357794:R1717H	ENSP00000357794:R1717H	R	-	2	0	TCHH	150347167	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.112000	0.10791	-0.414000	0.07495	-0.554000	0.04202	CGC	TCHH	-	NULL	ENSG00000159450		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	65	0	C	NM_007113		152080543	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T	T	152080543	C	T	152080543	3	4	87	1	0	0	0	0	1	0	0	0	15747	768	27	1	685	1	TCHH	1	152080543	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	761863	152080543	97170078	120	23244											
TCHH	7062	genome.wustl.edu	37	chr1	152085240	152085241	+	Frame_Shift_Ins	INS	-	-	C																															gtttctcactttgctcctctINSccctcagctagctccctctc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152085240_152085241insC	ENST00000368804.1	-	2	451_452	c.452_453insG	c.(451-453)ggafs	p.G151fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	151					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGCTCCTCTCCCTCAGCTAG	0.589																																																	0																																										SO:0001589	frameshift_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.453dupG	1.37:g.152085243_152085243dupC	ENSP00000357794:p.Gly151fs		Q5VUI3	Frame_Shift_Ins	INS	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E152fs	ENST00000368804.1	37	c.453_452	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.589	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0	35	0	-	NM_007113		152085241	-1	tier1		no_errors	ENST00000368804	ensembl	human	known	74_37	frame_shift_ins	11.11	32	4	INS	0.002:0.019	C	C	152085241	-	C	152085240	7	5	87	1	0	1	1	0	0	0	0	0	15747	1538	54	0	5382	0	TCHH	1	152085240	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	4697	152085240	97165381	121	23245											
LCE1C	353133	genome.wustl.edu	37	chr1	152777650	152777650	+	Frame_Shift_Del	DEL	C	C	-																															ccccgccacagcagctggagCcccccgagggctggctgcag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152777650delC	ENST00000607093.1	-	1	304	c.305delG	c.(304-306)ggcfs	p.G102fs	LCE1C_ENST00000368768.1_Frame_Shift_Del_p.G102fs			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	102	Gly-rich.				keratinization (GO:0031424)					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGCTGGAGCCCCCCGAGGG	0.667																																																	0													39	48	45					1																	152777650		2178	4273	6451	SO:0001589	frameshift_variant	0				CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"Late cornified envelopes"	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.305delG	1.37:g.152777650delC	ENSP00000475270:p.Gly102fs			Frame_Shift_Del	DEL	NULL	p.G102fs	ENST00000607093.1	37	c.305	CCDS1026.1	1																																																																																			LCE1C	-	NULL	ENSG00000197084		0.667	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1C	HGNC	protein_coding	OTTHUMT00000034658.2		0	70	0	C	NM_178351		152777650	-1	tier1		no_errors	ENST00000368768	ensembl	human	known	74_37	frame_shift_del	22.22	63	18	DEL	0.940	-	-	152777650	C	-	152777650	7	5	87	1	0	1	0	1	0	0	0	0	8689	739	26	0	55	0	LCE1C	1	152777650	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	692410	152777650	96472971	122	23246											
IVL	3713	genome.wustl.edu	37	chr1	152882397	152882397	+	Frame_Shift_Del	DEL	C	C	-																															aacagccaactccactgcctCccccatgccagaaggtgcct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:152882397delC	ENST00000368764.3	+	2	188	c.124delC	c.(124-126)cccfs	p.P43fs	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	43					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACTGCCTCCCCCATGCCA	0.552																																																	0													96	87	90					1																	152882397		2203	4300	6503	SO:0001589	frameshift_variant	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.124delC	1.37:g.152882397delC	ENSP00000357753:p.Pro43fs		Q5T7P4	Frame_Shift_Del	DEL	pfam_Involucrin_N,pfam_Involucrin_rpt	p.P43fs	ENST00000368764.3	37	c.124	CCDS1030.1	1																																																																																			IVL	-	pfam_Involucrin_N	ENSG00000163207		0.552	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1		0	47	0	C	NM_005547		152882397	1	tier1		no_errors	ENST00000368764	ensembl	human	known	74_37	frame_shift_del	28.57	35	14	DEL	0.031	-	-	152882397	C	-	152882397	7	5	87	1	0	1	0	1	0	0	0	0	7956	855	30	0	126	0	IVL	1	152882397	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	104747	152882397	96368224	123	23247											
PGLYRP3	114771	genome.wustl.edu	37	chr1	153274898	153274898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttactgatatccaatgtCacaaaagttccgtgtgtcca	12	12	6	11	1	1	1	1	1	0	0	4	1	4	1	3	0	1	1	3	0	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:153274898C>T	ENST00000290722.1	-	5	767	c.715G>A	c.(715-717)Gac>Aac	p.D239N		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	239					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATCCAATGTCACAAAAGTTC	0.483																																																	0													244	227	233					1																	153274898		2203	4300	6503	SO:0001583	missense	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.715G>A	1.37:g.153274898C>T	ENSP00000290722:p.Asp239Asn		A1A4U8|Q5SY65	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.D239N	ENST00000290722.1	37	c.715	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916760	0.73098	.	.	ENSG00000159527	ENST00000290722	T	0.26810	1.71	4.3	4.3	0.51218	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.64402	D	0.000008	T	0.56790	0.2009	H	0.97962	4.115	0.46078	D	0.998857	D	0.71674	0.998	D	0.66196	0.942	T	0.72557	-0.4257	10	0.87932	D	0	-22.8611	12.1343	0.53961	0.0:1.0:0.0:0.0	.	239	Q96LB9	PGRP3_HUMAN	N	239	ENSP00000290722:D239N	ENSP00000290722:D239N	D	-	1	0	PGLYRP3	151541522	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	2.032000	0.41127	2.230000	0.72887	0.655000	0.94253	GAC	PGLYRP3	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	ENSG00000159527		0.483	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1	-	0	76	0	C	NM_052891		153274898	-1	tier1	-	no_errors	ENST00000290722	ensembl	human	known	74_37	missense	14.29	54	9	SNP	1.000	T	T	153274898	C	T	153274898	3	4	87	1	0	0	0	0	1	0	0	0	11834	826	29	3	322	3	PGLYRP3	1	153274898	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	392501	153274898	95975723	124	23248											
PGLYRP3	114771	genome.wustl.edu	37	chr1	153279708	153279708	+	Frame_Shift_Del	DEL	C	C	-																															cctgcaggcgagcggtcttgCcccccactccttgcgggaga																								rs369093535		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:153279708delC	ENST00000290722.1	-	2	143	c.91delG	c.(91-93)gcafs	p.A31fs		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	31					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCGGTCTTGCCCCCCACTCC	0.622																																																	0													41	39	40					1																	153279708		2202	4300	6502	SO:0001589	frameshift_variant	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I alpha precursor"	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.91delG	1.37:g.153279708delC	ENSP00000290722:p.Ala31fs		A1A4U8|Q5SY65	Frame_Shift_Del	DEL	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.A31fs	ENST00000290722.1	37	c.91	CCDS1035.1	1																																																																																			PGLYRP3	-	superfamily_Amidase_domain,smart_PGRP_domain_met/bac	ENSG00000159527		0.622	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1		0	44	0	C	NM_052891		153279708	-1	tier1		no_errors	ENST00000290722	ensembl	human	known	74_37	frame_shift_del	26.09	34	12	DEL	0.002	-	-	153279708	C	-	153279708	7	5	87	1	0	1	0	1	0	0	0	0	11834	739	26	0	958	0	PGLYRP3	1	153279708	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	4810	153279708	95970913	125	23249											
KCNN3	3782	genome.wustl.edu	37	chr1	154744782	154744782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggggtggatggcgcAcaccagcatctccaggctga	10	6	15	10	1	1	1	0	1	1	0	2	3	1	3	2	6	1	3	2	6	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:154744782A>G	ENST00000271915.4	-	3	1432	c.1117T>C	c.(1117-1119)Tgc>Cgc	p.C373R	KCNN3_ENST00000358505.2_Missense_Mutation_p.C60R|KCNN3_ENST00000361147.4_Missense_Mutation_p.C68R	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	378					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	TGGATGGCGCACACCAGCATC	0.607																																																	0													56	52	53					1																	154744782		2203	4300	6503	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1117T>C	1.37:g.154744782A>G	ENSP00000271915:p.Cys373Arg		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.C373R	ENST00000271915.4	37	c.1117	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362310	0.61403	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.99005	-5.32;-4.2;-5.31	4.69	4.69	0.59074	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.64402	D	0.000013	D	0.99339	0.9768	M	0.92219	3.285	0.80722	D	1	D;P;D	0.64830	0.994;0.922;0.97	D;P;D	0.68039	0.918;0.776;0.955	D	0.98810	1.0743	10	0.87932	D	0	-17.9092	13.994	0.64386	1.0:0.0:0.0:0.0	.	379;378;68	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	R	68;373;60	ENSP00000354764:C68R;ENSP00000271915:C373R;ENSP00000351295:C60R	ENSP00000271915:C373R	C	-	1	0	KCNN3	153011406	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.135000	0.94478	1.956000	0.56807	0.459000	0.35465	TGC	KCNN3	-	pfam_K_chnl_Ca-activ_SK,prints_K_chnl_Ca-activ_SK	ENSG00000143603		0.607	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0	18	0	A	NM_002249		154744782	-1			no_errors	ENST00000271915	ensembl	human	novel	74_37	missense	23.08	10	3	SNP	1.000	G	G	154744782	A	G	154744782	3	3	87	1	0	0	0	0	1	0	0	0	8107	159	6	4	1102	4	KCNN3	1	154744782	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1465074	154744782	94505839	126	23250											
KCNN3	3782	genome.wustl.edu	37	chr1	154842106	154842106	+	Frame_Shift_Del	DEL	G	G	-																															tggcggtggagttggacgaaGggggggccctgaaagcggtg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:154842106delG	ENST00000271915.4	-	1	650	c.335delC	c.(334-336)cctfs	p.P112fs	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	117					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTTGGACGAAGGGGGGGCCCT	0.637																																																	0													46	37	40					1																	154842106		2203	4300	6503	SO:0001589	frameshift_variant	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.335delC	1.37:g.154842106delG	ENSP00000271915:p.Pro112fs		B1ANX0|O43517|Q86VF9|Q8WXG7	Frame_Shift_Del	DEL	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.P112fs	ENST00000271915.4	37	c.335	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.637	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0	122	0	G	NM_002249		154842106	-1	tier1		no_errors	ENST00000271915	ensembl	human	novel	74_37	frame_shift_del	11.43	93	12	DEL	0.918	-	-	154842106	G	-	154842106	7	5	87	1	0	1	0	1	0	0	0	0	8107	1000	35	0	1914	0	KCNN3	1	154842106	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	97324	154842106	94408515	127	23251											
TRIM46	80128	genome.wustl.edu	37	chr1	155156330	155156330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccacagtggaggcgtcGccacccttcgctttcctaac	7	9	10	15	3	0	0	0	0	0	0	3	2	1	1	4	2	2	1	4	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155156330G>A	ENST00000334634.4	+	10	1944	c.1944G>A	c.(1942-1944)tcG>tcA	p.S648S	RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000392451.2_3'UTR|MUC1_ENST00000462215.1_5'Flank|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Silent_p.S522S|TRIM46_ENST00000368382.1_Silent_p.S625S	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	648	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGAGGCGTCGCCACCCTTCG	0.647																																																	0													61	58	59					1																	155156330		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19019	protein-coding gene	gene with protein product		600986	"tripartite motif-containing 46"				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1944G>A	1.37:g.155156330G>A			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.S648	ENST00000334634.4	37	c.1944	CCDS1097.1	1																																																																																			TRIM46	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000163462		0.647	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	-	0	57	0	G	NM_025058		155156330	1	tier1	-	no_errors	ENST00000334634	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.370	A	A	155156330	G	A	155156330	2	1	87	1	0	0	0	0	0	0	0	1	16569	1074	38	1		1	TRIM46	1	155156330	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	314224	155156330	94094291	128	23252											
THBS3	7059	genome.wustl.edu	37	chr1	155167348	155167348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgactacgtagaagcggCcactgtcttgataactgaag	13	9	10	9	2	1	4	0	3	1	1	1	4	1	4	1	1	3	1	1	1	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155167348C>T	ENST00000368378.3	-	20	2425	c.2405G>A	c.(2404-2406)gGc>gAc	p.G802D	THBS3_ENST00000457183.2_Missense_Mutation_p.G682D|RP11-263K19.4_ENST00000422665.1_RNA|MIR92B_ENST00000607575.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.G331D|THBS3_ENST00000541576.1_Missense_Mutation_p.G199D|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	802	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTAGAAGCGGCCACTGTCTTG	0.562																																																	0													96	92	93					1																	155167348		2203	4300	6503	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2405G>A	1.37:g.155167348C>T	ENSP00000357362:p.Gly802Asp		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G802D	ENST00000368378.3	37	c.2405	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124083	0.56613	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	4.85	4.85	0.62838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.145674	0.48286	D	0.000182	T	0.81711	0.4880	N	0.24115	0.695	0.80722	D	1	P;B;B;P	0.36183	0.542;0.409;0.409;0.542	B;B;B;B	0.42462	0.388;0.158;0.158;0.158	D	0.84767	0.0765	10	0.66056	D	0.02	-21.9459	11.2185	0.48840	0.0:0.8147:0.1853:0.0	.	682;802;802;802	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	D	802;199;682;331	ENSP00000357362:G802D;ENSP00000444792:G199D;ENSP00000392207:G682D;ENSP00000437353:G331D	ENSP00000357362:G802D	G	-	2	0	THBS3	153433972	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	3.343000	0.52167	2.519000	0.84933	0.591000	0.81541	GGC	THBS3	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000169231		0.562	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	-	0	41	0	C	NM_007112		155167348	-1	tier1	-	no_errors	ENST00000368378	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T	T	155167348	C	T	155167348	3	4	87	1	0	0	0	0	1	0	0	0	15902	739	26	3	481	3	THBS3	1	155167348	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	11018	155167348	94083273	129	23253											
MSTO1	55154	genome.wustl.edu	37	chr1	155583470	155583470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcccatctgctgctgactCcctgcagggtggctcctcct	3	12	9	17	0	1	1	0	1	1	0	5	1	5	1	4	2	3	4	4	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155583470C>T	ENST00000245564.2	+	13	1435	c.1411C>T	c.(1411-1413)Ccc>Tcc	p.P471S	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.P436S|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	471					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GCTGCTGACTCCCTGCAGGGT	0.577																																																	0													11	9	10					1																	155583470		1999	4103	6102	SO:0001583	missense	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1411C>T	1.37:g.155583470C>T	ENSP00000245564:p.Pro471Ser		Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.P471S	ENST00000245564.2	37	c.1411	CCDS1114.1	1	.	.	.	.	.	.	.	.	.	.	c	26.5	4.744003	0.89663	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.56611	0.45;0.64	3.14	3.14	0.36123	.	0.133729	0.51477	D	0.000094	T	0.58119	0.2100	M	0.68952	2.095	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.935;0.998;1.0;1.0;0.973;1.0;1.0	P;D;D;D;P;D;D	0.87578	0.625;0.948;0.983;0.998;0.729;0.993;0.993	T	0.57004	-0.7885	10	0.27785	T	0.31	.	12.9528	0.58411	0.0:1.0:0.0:0.0	.	416;471;436;293;471;471;471	B4DLS9;A8K3J5;Q9BUK6-7;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;MSTO1_HUMAN;.;.	S	471;436	ENSP00000245564:P471S;ENSP00000357325:P436S	ENSP00000245564:P471S	P	+	1	0	MSTO1	153850094	0.984000	0.35163	0.887000	0.34795	0.911000	0.54048	5.267000	0.65530	1.583000	0.49898	0.313000	0.20887	CCC	MSTO1	-	NULL	ENSG00000125459		0.577	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	-	0	63	0	C	NM_018116		155583470	1	tier1	-	no_errors	ENST00000245564	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.937	T	T	155583470	C	T	155583470	3	4	87	1	0	0	0	0	1	0	0	0	9932	855	30	3	1461	3	MSTO1	1	155583470	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	416122	155583470	93667151	130	23254											
GON4L	54856	genome.wustl.edu	37	chr1	155753824	155753826	+	In_Frame_Del	DEL	CTC	CTC	-																															ggacgaggctcagctacacaCtcctcctcttctgggccatc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:155753824_155753826delCTC	ENST00000368331.1	-	14	1891_1893	c.1843_1845delGAG	c.(1843-1845)gagdel	p.E615del	GON4L_ENST00000271883.5_In_Frame_Del_p.E615del|GON4L_ENST00000361040.5_In_Frame_Del_p.E615del|GON4L_ENST00000437809.1_In_Frame_Del_p.E615del|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	615					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGCTACACACTCCTCCTCTTCT	0.483																																																	0																																										SO:0001651	inframe_deletion	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"gon-4 homolog (C.elegans)"	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1843_1845delGAG	1.37:g.155753830_155753832delCTC	ENSP00000357315:p.Glu615del		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	In_Frame_Del	DEL	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E615in_frame_del	ENST00000368331.1	37	c.1845_1843		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0	105	0	CTC	NM_032292		155753826	-1	tier1		no_errors	ENST00000368331	ensembl	human	known	74_37	in_frame_del	9.57	85	9	DEL	0.962:0.996:1.000	-	-	155753826	CTC	-	155753824	7	5	87	1	0	1	0	1	0	0	0	0	6598	564	20	0	5070	0	GON4L	1	155753824	In_Frame_Del	DEL	CTC	TCGA-L5-A8NM-01A-11D-A37C-09	170354	155753824	93496797	131	23255											
PMF1	9673	genome.wustl.edu	37	chr1	156182947	156182948	+	IGR	INS	-	-	A																															tggtggacacttttcttcagINSaagctggtcgccgccggcag																								rs564773343		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156182947_156182948insA	ENST00000359511.4	+	0	3482				PMF1-BGLAP_ENST00000368276.4_Frame_Shift_Ins_p.K48fs|PMF1-BGLAP_ENST00000320139.5_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000565805.1_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000567140.1_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000368277.3_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000368279.3_Frame_Shift_Ins_p.K48fs|PMF1-BGLAP_ENST00000490491.1_Frame_Shift_Ins_p.K48fs|PMF1_ENST00000368273.4_Frame_Shift_Ins_p.K48fs	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CTTTTCTTCAGAAGCTGGTCGC	0.599																																																	0																																										SO:0001628	intergenic_variant	0			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"Solute carriers"	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816		1.37:g.156182949_156182949dupA			O75034	Frame_Shift_Ins	INS	pfam_Nnf1	p.L48fs	ENST00000359511.4	37	c.141_142	CCDS1133.1	1																																																																																			PMF1-BGLAP	-	NULL	ENSG00000260238		0.599	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMF1-BGLAP	HGNC	protein_coding	OTTHUMT00000040856.1		0	21	0	-	NM_014655		156182948	1	tier1		no_errors	ENST00000368276	ensembl	human	known	74_37	frame_shift_ins	30.00	7	3	INS	1.000:1.000	A	A	156182948	-	A	156182947	6	5	87	0	1	1	1	0	0	0	0	0	12172	933	33	0		0	PMF1	1	156182947	IGR	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	429123	156182947	93067674	132	23256											
IQGAP3	128239	genome.wustl.edu	37	chr1	156509223	156509223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggagataggcctctcggCggctggaggcatagttgtac	8	8	16	9	2	1	1	0	0	1	1	2	3	1	2	1	6	1	5	1	6	3	4	rs111494634	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156509223C>T	ENST00000361170.2	-	25	3009	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H	IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1000	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCTCTCGGCGGCTGGAGGC	0.512																																																	0								C	HIS/ARG	0,4406		0,0,2203	56	57	57		2999	2.9	1	1	dbSNP_132	57	4,8596	3.7+/-12.6	0,4,4296	yes	missense	IQGAP3	NM_178229.4	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	1000/1632	156509223	4,13002	2203	4300	6503	SO:0001583	missense	0			AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2999G>A	1.37:g.156509223C>T	ENSP00000354451:p.Arg1000His		Q5T3H8	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP	p.R1000H	ENST00000361170.2	37	c.2999	CCDS1144.1	1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306568	0.40795	0.0	4.65E-4	ENSG00000183856	ENST00000361170	T	0.02812	4.15	4.8	2.87	0.33458	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.373078	0.30464	N	0.009562	T	0.01092	0.0036	L	0.52364	1.645	0.38092	D	0.936984	P	0.43024	0.798	B	0.35182	0.197	T	0.59289	-0.7482	10	0.56958	D	0.05	-1.8504	4.8466	0.13516	0.1533:0.6128:0.1489:0.085	.	1000	Q86VI3	IQGA3_HUMAN	H	1000	ENSP00000354451:R1000H	ENSP00000354451:R1000H	R	-	2	0	IQGAP3	154775847	0.650000	0.27331	0.997000	0.53966	0.996000	0.88848	0.678000	0.25277	0.581000	0.29539	0.655000	0.94253	CGC	IQGAP3	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000183856		0.512	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP3	HGNC	protein_coding	OTTHUMT00000080657.1	-	0	38	0	C	NM_178229		156509223	-1	tier1	rs111494634	no_errors	ENST00000361170	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.997	T	T	156509223	C	T	156509223	3	4	87	1	0	0	0	0	1	0	0	0	7843	768	27	1	1952	1	IQGAP3	1	156509223	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	326276	156509223	92741398	133	23257											
GPATCH4	54865	genome.wustl.edu	37	chr1	156571204	156571204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggagccccttaccgtCattgctgggtccgctccgcg	5	8	14	14	4	1	0	1	0	0	0	3	2	3	2	5	3	3	2	5	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156571204C>A	ENST00000438976.2	-	1	58	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	GPATCH4_ENST00000334588.7_5'UTR|GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000368232.4_5'UTR			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	0							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCTTACCGTCATTGCTGGGT	0.577																																																	0													39	42	41					1																	156571204		1891	4110	6001	SO:0001583	missense	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"G patch domain containing"	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.28G>T	1.37:g.156571204C>A	ENSP00000396441:p.Asp10Tyr		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.D10Y	ENST00000438976.2	37	c.28	CCDS44245.1	1	.	.	.	.	.	.	.	.	.	.	C	8.746	0.920189	0.17982	.	.	ENSG00000160818	ENST00000438976	.	.	.	4.33	1.31	0.21738	.	.	.	.	.	T	0.05044	0.0135	N	0.08118	0	0.30316	N	0.788055	P	0.40476	0.718	B	0.36885	0.235	T	0.18618	-1.0331	8	0.72032	D	0.01	.	4.5051	0.11883	0.0:0.5546:0.2397:0.2057	.	10	E9PAV9	.	Y	10	.	ENSP00000396441:D10Y	D	-	1	0	GPATCH4	154837828	0.000000	0.05858	0.013000	0.15412	0.101000	0.19017	-0.313000	0.08103	0.297000	0.22615	0.650000	0.86243	GAC	GPATCH4	-	NULL	ENSG00000160818		0.577	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1	-	0	49	0	C	NM_017725		156571204	-1	tier1	-	no_errors	ENST00000438976	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.004	A	A	156571204	C	A	156571204	3	1	87	1	0	0	0	0	1	0	0	0	6619	826	29	3	1147	3	GPATCH4	1	156571204	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	61981	156571204	92679417	134	23258											
NES	10763	genome.wustl.edu	37	chr1	156640743	156640743	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccccaacatgacctctggGgaggcttggtcaccccctgg	7	7	12	15	0	2	1	1	1	1	0	2	3	2	2	5	5	1	1	5	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156640743G>T	ENST00000368223.3	-	4	3369	c.3237C>A	c.(3235-3237)tcC>tcA	p.S1079S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1079	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGACCTCTGGGGAGGCTTGGT	0.706																																																	0													24	27	26					1																	156640743		2198	4285	6483	SO:0001819	synonymous_variant	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3237C>A	1.37:g.156640743G>T			O00552|Q3LIF5|Q5SYZ6	Silent	SNP	pfam_IF	p.S1079	ENST00000368223.3	37	c.3237	CCDS1151.1	1																																																																																			NES	-	NULL	ENSG00000132688		0.706	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	57	0	G	NM_006617		156640743	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	silent	15.09	45	8	SNP	0.001	T	T	156640743	G	T	156640743	2	4	87	1	0	0	0	0	0	0	0	1	10376	1219	43	3		3	NES	1	156640743	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	69539	156640743	92609878	135	23259											
NES	10763	genome.wustl.edu	37	chr1	156641686	156641686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcccctagagacctccgtCgctgttgagtctctttttca	5	15	8	13	2	2	2	1	1	1	1	6	3	4	2	4	0	0	3	4	0	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156641686C>T	ENST00000368223.3	-	4	2426	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	765	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCTCCGTCGCTGTTGAGT	0.443																																																	0													87	88	87					1																	156641686		2203	4300	6503	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.2294G>A	1.37:g.156641686C>T	ENSP00000357206:p.Arg765Gln		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.R765Q	ENST00000368223.3	37	c.2294	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	C	9.808	1.182252	0.21787	.	.	ENSG00000132688	ENST00000368223	D	0.85258	-1.96	4.31	2.34	0.29019	.	.	.	.	.	T	0.52757	0.1754	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52403	-0.8580	9	0.87932	D	0	.	8.9057	0.35521	0.0:0.1535:0.6665:0.18	.	765	P48681	NEST_HUMAN	Q	765	ENSP00000357206:R765Q	ENSP00000357206:R765Q	R	-	2	0	NES	154908310	0.000000	0.05858	0.007000	0.13788	0.172000	0.22775	-0.210000	0.09345	0.505000	0.28104	-0.241000	0.12123	CGA	NES	-	NULL	ENSG00000132688		0.443	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	78	0	C	NM_006617		156641686	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	10.29	60	7	SNP	0.002	T	T	156641686	C	T	156641686	3	4	87	1	0	0	0	0	1	0	0	0	10376	884	31	1	2575	1	NES	1	156641686	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	943	156641686	92608935	136	23260											
INSRR	3645	genome.wustl.edu	37	chr1	156814636	156814636	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaataccatcagcctctcCtgcgggaaggggcatccagc	9	7	12	13	1	2	0	1	0	1	0	4	2	3	2	4	4	4	1	4	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156814636C>A	ENST00000368195.3	-	13	2834		c.e13-1		NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor						actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCAGCCTCTCCTGCGGGAAGG	0.582																																																	0													41	44	43					1																	156814636		2203	4300	6503	SO:0001630	splice_region_variant	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2438-1G>T	1.37:g.156814636C>A			O60724|Q5VZS3	Splice_Site	SNP	-	e13-1	ENST00000368195.3	37	c.2438-1	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738186	0.69304	.	.	ENSG00000027644	ENST00000368195	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1984	0.59752	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	INSRR	155081260	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.181000	0.77682	2.181000	0.69327	0.467000	0.42956	.	INSRR	-	-	ENSG00000027644		0.582	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0	22	0	C	NM_014215	Intron	156814636	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	splice_site	27.27	8	3	SNP	1.000	A	A	156814636	C	A	156814636	5	1	87	1	0	0	0	0	0	0	1	0	7801	695	24	3	1495	3	INSRR	1	156814636	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	172950	156814636	92435985	137	23261											
INSRR	3645	genome.wustl.edu	37	chr1	156814956	156814956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcatggatgtcgatccgGtattccgtgaagtggcgcag	8	9	15	9	4	0	1	0	1	0	0	3	3	2	2	2	4	0	3	2	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156814956G>A	ENST00000368195.3	-	12	2745	c.2349C>T	c.(2347-2349)taC>taT	p.Y783Y	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	783					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCGATCCGGTATTCCGTGA	0.662																																																	0													30	24	26					1																	156814956		2203	4300	6503	SO:0001819	synonymous_variant	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"Fibronectin type III domain containing"	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2349C>T	1.37:g.156814956G>A			O60724|Q5VZS3	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.Y783	ENST00000368195.3	37	c.2349	CCDS1160.1	1																																																																																			INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000027644		0.662	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	-	0	89	0	G	NM_014215		156814956	-1	tier1	-	no_errors	ENST00000368195	ensembl	human	known	74_37	silent	32.05	53	25	SNP	1.000	A	A	156814956	G	A	156814956	2	1	87	1	0	0	0	0	0	0	0	1	7801	1256	44	3		3	INSRR	1	156814956	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	320	156814956	92435665	138	23262											
PEAR1	375033	genome.wustl.edu	37	chr1	156879873	156879873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgaccctgttcatggaCgctgtcagtgccaggctggc	5	10	14	12	1	2	1	2	1	0	0	2	2	2	2	2	3	1	4	2	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:156879873C>T	ENST00000338302.3	+	14	1876	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R551C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	551					recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R551C(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTTCATGGACGCTGTCAGTG	0.582											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											142	124	130					1																	156879873		2203	4300	6503	SO:0001583	missense	0			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.1651C>T	1.37:g.156879873C>T	ENSP00000344465:p.Arg551Cys	1781	Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R551C	ENST00000338302.3	37	c.1651	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.645023	0.67358	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	T;T	0.33438	1.41;1.41	4.71	4.71	0.59529	EGF-like, laminin (1);	0.254556	0.27631	N	0.018502	T	0.25717	0.0626	L	0.52573	1.65	0.36792	D	0.884887	D	0.57571	0.98	P	0.48400	0.576	T	0.03364	-1.1044	10	0.46703	T	0.11	.	15.1995	0.73122	0.0:1.0:0.0:0.0	.	551	Q5VY43	PEAR1_HUMAN	C	551	ENSP00000344465:R551C;ENSP00000292357:R551C	ENSP00000292357:R551C	R	+	1	0	PEAR1	155146497	0.000000	0.05858	0.996000	0.52242	0.983000	0.72400	0.329000	0.19698	2.447000	0.82792	0.561000	0.74099	CGC	PEAR1	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin	ENSG00000187800		0.582	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2		0	57	0	C	NM_001080471		156879873	1			no_errors	ENST00000292357	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.997	T	T	156879873	C	T	156879873	3	4	87	1	0	0	0	0	1	0	0	0	11751	536	19	1	1697	1	PEAR1	1	156879873	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	64917	156879873	92370748	139	23263											
CD1D	912	genome.wustl.edu	37	chr1	158152021	158152021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtggacgagggaaacagtGcagtggctccttaatggcac	12	7	14	8	1	0	0	0	0	0	0	1	3	1	2	1	4	2	3	1	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:158152021G>A	ENST00000368171.3	+	4	1027	c.528G>A	c.(526-528)gtG>gtA	p.V176V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	176					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGAAACAGTGCAGTGGCTCC	0.537																																																	0													167	168	167					1																	158152021		2203	4300	6503	SO:0001819	synonymous_variant	0			BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1637	protein-coding gene	gene with protein product		188410	"CD1D antigen, d polypeptide", "CD1d antigen"			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.528G>A	1.37:g.158152021G>A			D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Silent	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V176	ENST00000368171.3	37	c.528	CCDS1173.1	1																																																																																			CD1D	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158473		0.537	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1D	HGNC	protein_coding	OTTHUMT00000058340.1	-	0	48	0	G	NM_001766		158152021	1	tier1	-	no_errors	ENST00000368171	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.000	A	A	158152021	G	A	158152021	2	1	87	1	0	0	0	0	0	0	0	1	2984	1306	46	3		3	CD1D	1	158152021	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1272148	158152021	91098600	140	23264											
SPTA1	6708	genome.wustl.edu	37	chr1	158632566	158632566	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtgtctctacaaatcAgctgcagatggagaaggtct	10	11	10	10	0	4	2	1	0	3	2	5	3	4	2	1	2	3	2	1	2	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:158632566A>T	ENST00000368147.4	-	17	2570	c.2390T>A	c.(2389-2391)cTg>cAg	p.L797Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	797					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTACAAATCAGCTGCAGATG	0.517																																																	0													96	99	98					1																	158632566		1948	4136	6084	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2390T>A	1.37:g.158632566A>T	ENSP00000357129:p.Leu797Gln		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.L797Q	ENST00000368147.4	37	c.2390	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.131032	0.00338	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.42900	0.96;0.96	4.41	2.01	0.26516	.	0.297847	0.18418	N	0.141834	T	0.01092	0.0036	N	0.00007	-3.185	0.29400	N	0.86199	B	0.02656	0.0	B	0.08055	0.003	T	0.44483	-0.9325	10	0.02654	T	1	.	7.5863	0.27995	0.3891:0.0:0.0:0.6108	.	797	P02549	SPTA1_HUMAN	Q	797	ENSP00000357130:L797Q;ENSP00000357129:L797Q	ENSP00000357129:L797Q	L	-	2	0	SPTA1	156899190	1.000000	0.71417	0.060000	0.19600	0.035000	0.12851	2.743000	0.47442	0.205000	0.20568	-0.339000	0.08088	CTG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.517	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	69	0	A	NM_003126		158632566	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	12.50	41	6	SNP	1.000	T	T	158632566	A	T	158632566	3	4	87	1	0	0	0	0	1	0	0	0	15163	188	7	5	5013	5	SPTA1	1	158632566	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	480545	158632566	90618055	141	23265											
OR6K2	81448	genome.wustl.edu	37	chr1	158669503	158669503	+	Frame_Shift_Del	DEL	A	A	-																															tgaggtccctggtcttacggAaaaaaatatcttagcttgac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:158669503delA	ENST00000359610.2	-	1	983	c.940delT	c.(940-942)tccfs	p.S314fs		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGTCTTACGGAAAAAAATATC	0.368																																																	0													71	70	71					1																	158669503		2203	4300	6503	SO:0001589	frameshift_variant	0			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"GPCR / Class A : Olfactory receptors"	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.940delT	1.37:g.158669503delA	ENSP00000352626:p.Ser314fs		B9EH33|Q6IFR6	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S314fs	ENST00000359610.2	37	c.940	CCDS30902.1	1																																																																																			OR6K2	-	NULL	ENSG00000196171		0.368	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1		0	65	0	A	NM_001005279		158669503	-1	tier1		no_errors	ENST00000359610	ensembl	human	known	74_37	frame_shift_del	13.64	38	6	DEL	0.000	-	-	158669503	A	-	158669503	7	5	87	1	0	1	0	1	0	0	0	0	11241	246	9	0	38	0	OR6K2	1	158669503	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	36937	158669503	90581118	142	23266											
CRP	1401	genome.wustl.edu	37	chr1	159683861	159683861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgagaggcttcgttaaCggtgctttgagggatacata	9	13	13	6	2	0	2	0	2	0	1	1	4	0	3	0	3	3	4	0	3	3	6	rs36061058	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:159683861C>T	ENST00000255030.5	-	2	232	c.129G>A	c.(127-129)ccG>ccA	p.P43P	CRP_ENST00000368112.1_Silent_p.P43P|CRP_ENST00000437342.1_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000343919.2_Silent_p.P43P|CRP_ENST00000368111.1_Silent_p.P43P|CRP_ENST00000368110.1_Silent_p.P43P	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	43	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	GCTTCGTTAACGGTGCTTTGA	0.488													C|||	23	0.00459265	0.0159	0.0029	5008	,	,		18195	0		0	False		,,,				2504	0																0								C		73,4333	64.1+/-101.4	2,69,2132	113	116	115		129	-2.1	0	1	dbSNP_126	115	0,8600		0,0,4300	no	coding-synonymous	CRP	NM_000567.2		2,69,6432	TT,TC,CC		0.0,1.6568,0.5613		43/225	159683861	73,12933	2203	4300	6503	SO:0001819	synonymous_variant	0			M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.129G>A	1.37:g.159683861C>T			A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.P43	ENST00000255030.5	37	c.129	CCDS30911.1	1																																																																																			CRP	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000132693		0.488	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	HGNC	protein_coding	OTTHUMT00000085553.1		0	24	0	C	NM_000567		159683861	-1			no_errors	ENST00000255030	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.000	T	T	159683861	C	T	159683861	2	4	87	1	0	0	0	0	0	0	0	1	3902	523	19	1		1	CRP	1	159683861	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1014358	159683861	89566760	143	23267											
DCAF8	50717	genome.wustl.edu	37	chr1	160209942	160209942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggactcgattttcatcatTaatggagtaatgaccagtgt	12	14	9	6	1	2	1	2	1	0	0	3	4	2	3	1	2	0	1	1	2	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:160209942T>C	ENST00000368073.3	-	4	702	c.268A>G	c.(268-270)Aat>Gat	p.N90D	DCAF8_ENST00000368074.1_Missense_Mutation_p.N90D|DCAF8_ENST00000610139.1_Missense_Mutation_p.N90D|DCAF8_ENST00000326837.2_Missense_Mutation_p.N90D|DCAF8_ENST00000556710.1_Missense_Mutation_p.N244D|DCAF8_ENST00000608310.1_Missense_Mutation_p.N244D|DCAF8_ENST00000475733.1_Missense_Mutation_p.N90D			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	90					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTTTCATCATTAATGGAGTAA	0.547																																																	0													91	69	76					1																	160209942		2203	4300	6503	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.268A>G	1.37:g.160209942T>C	ENSP00000357052:p.Asn90Asp		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N244D	ENST00000368073.3	37	c.730	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381924	0.42207	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.11;-0.11	5.03	5.03	0.67393	.	0.091318	0.41097	U	0.000943	T	0.41373	0.1156	L	0.43152	1.355	0.32237	N	0.573239	P;B;B	0.36874	0.572;0.016;0.003	B;B;B	0.36464	0.225;0.011;0.002	T	0.39165	-0.9627	10	0.18276	T	0.48	-12.1936	13.7732	0.63038	0.0:0.0:0.0:1.0	.	244;90;90	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	D	90;90;90;244;71;90;90;90;244;302	ENSP00000357052:N90D;ENSP00000318227:N90D;ENSP00000357053:N90D;ENSP00000451989:N244D;ENSP00000451235:N244D	ENSP00000318227:N90D	N	-	1	0	RP11-574F21.3;DCAF8	158476566	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.318000	0.51975	1.889000	0.54706	0.528000	0.53228	AAT	DCAF8	-	NULL	ENSG00000132716		0.547	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	-	0	40	0	T	NM_015726		160209942	-1	tier1	-	no_errors	ENST00000608310	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	C	C	160209942	T	C	160209942	3	2	87	1	0	0	0	0	1	0	0	0	4285	1754	61	4	1569	4	DCAF8	1	160209942	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	526081	160209942	89040679	144	23268											
VANGL2	57216	genome.wustl.edu	37	chr1	160394994	160394994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtggacattggtgagCgaggagccggtgaccaacgg	12	5	16	8	3	0	2	0	2	0	0	0	5	0	4	2	5	4	0	2	5	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:160394994C>T	ENST00000368061.2	+	8	1866	c.1392C>T	c.(1390-1392)agC>agT	p.S464S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	464					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTGGTGAGCGAGGAGCCGG	0.552																																																	0													81	73	76					1																	160394994		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"vang, van gogh-like 2", "loop-tail-associated protein", "strabismus"	600533	"vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)", "vang-like 2 (van gogh, Drosophila)"			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1392C>T	1.37:g.160394994C>T			D3DVE9|Q5T212	Silent	SNP	pfam_Strabismus,pirsf_Strabismus	p.S464	ENST00000368061.2	37	c.1392	CCDS30915.1	1																																																																																			VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.552	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	-	0	47	0	C	NM_020335		160394994	1	tier1	-	no_errors	ENST00000368061	ensembl	human	known	74_37	silent	25.00	45	15	SNP	1.000	T	T	160394994	C	T	160394994	2	4	87	1	0	0	0	0	0	0	0	1	17169	767	27	1		1	VANGL2	1	160394994	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	185052	160394994	88855627	145	23269											
ITLN1	55600	genome.wustl.edu	37	chr1	160849201	160849202	+	Frame_Shift_Ins	INS	-	-	C																															aacaaatcccgcagtgaattINScccctgaaaacaagaggcag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:160849201_160849202insC	ENST00000326245.3	-	7	803_804	c.688_689insG	c.(688-690)gaafs	p.E230fs	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	230	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CGCAGTGAATTCCCCTGAAAAC	0.49																																																	0																																										SO:0001589	frameshift_variant	0			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.689dupG	1.37:g.160849205_160849205dupC	ENSP00000323587:p.Glu230fs		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Frame_Shift_Ins	INS	superfamily_Fibrinogen_a/b/g_C_dom	p.E230fs	ENST00000326245.3	37	c.689_688	CCDS1211.1	1																																																																																			ITLN1	-	superfamily_Fibrinogen_a/b/g_C_dom	ENSG00000179914		0.49	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN1	HGNC	protein_coding	OTTHUMT00000071462.1		0	57	0	-	NM_017625		160849202	-1	tier1		no_errors	ENST00000326245	ensembl	human	known	74_37	frame_shift_ins	22.64	41	12	INS	0.193:0.194	C	C	160849202	-	C	160849201	7	5	87	1	0	1	1	0	0	0	0	0	7937	1783	62	0	260	0	ITLN1	1	160849201	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	454207	160849201	88401420	146	23270											
PPOX	5498	genome.wustl.edu	37	chr1	161137885	161137886	+	Frame_Shift_Del	DEL	CA	CA	-																															aagagcctgatgagactgtgCacagttttgcccagcgccgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:161137885_161137886delCA	ENST00000367999.4	+	5	705_706	c.439_440delCA	c.(439-441)cacfs	p.H147fs	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Frame_Shift_Del_p.H147fs|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	147					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGAGACTGTGCACAGTTTTGCC	0.604																																																	0																																										SO:0001589	frameshift_variant	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"variegate porphyria"	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.439_440delCA	1.37:g.161137887_161137888delCA	ENSP00000356978:p.His147fs		D3DVG0|Q5VTW8	Frame_Shift_Del	DEL	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.H147fs	ENST00000367999.4	37	c.439_440	CCDS1221.1	1																																																																																			PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.604	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1		0	52	0	CA	NM_000309		161137886	1	tier1		no_errors	ENST00000352210	ensembl	human	known	74_37	frame_shift_del	15.00	34	6	DEL	1.000:1.000	-	-	161137886	CA	-	161137885	7	5	87	1	0	1	0	1	0	0	0	0	12390	710	25	0	453	0	PPOX	1	161137885	Frame_Shift_Del	DEL	CA	TCGA-L5-A8NM-01A-11D-A37C-09	288684	161137885	88112736	147	23271											
UHMK1	127933	genome.wustl.edu	37	chr1	162473599	162473599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtaaagcagtggtgaatgCcgcaattccagcctatcacc	12	8	9	12	1	1	1	1	1	0	0	2	1	2	1	4	1	3	3	4	1	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:162473599C>T	ENST00000489294.1	+	4	967	c.809C>T	c.(808-810)gCc>gTc	p.A270V	UHMK1_ENST00000538489.1_Missense_Mutation_p.A270V|UHMK1_ENST00000545294.1_Missense_Mutation_p.A196V|UHMK1_ENST00000282169.8_3'UTR	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				cell cycle arrest (GO:0007050)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of translational initiation (GO:0045948)|protein autophosphorylation (GO:0046777)|regulation of protein export from nucleus (GO:0046825)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|neuronal ribonucleoprotein granule (GO:0071598)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)|transferase activity (GO:0016740)			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GTGGTGAATGCCGCAATTCCA	0.373																																																	0													146	128	134					1																	162473599		2203	4300	6503	SO:0001583	missense	0			BC026046	CCDS1239.1, CCDS53423.1, CCDS53424.1	1q23.1	2013-02-12			ENSG00000152332	ENSG00000152332		"RNA binding motif (RRM) containing"	19683	protein-coding gene	gene with protein product		608849				12093740, 12782393	Standard	NM_175866		Approved	KIS, Kist	uc001gcc.2	Q8TAS1	OTTHUMG00000031373	ENST00000489294.1:c.809C>T	1.37:g.162473599C>T	ENSP00000420270:p.Ala270Val		A8K8K4|G3V1M1|Q96C22	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom	p.A270V	ENST00000489294.1	37	c.809	CCDS1239.1	1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192949	0.58017	.	.	ENSG00000152332	ENST00000545294;ENST00000538489;ENST00000489294	T;T;T	0.64803	-0.12;-0.12;-0.12	6.07	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.112701	0.64402	D	0.000007	T	0.27832	0.0685	L	0.31294	0.92	.	.	.	B;B;B	0.28820	0.103;0.224;0.007	B;B;B	0.26094	0.039;0.066;0.022	T	0.06127	-1.0844	9	0.30078	T	0.28	-11.5219	9.158	0.37005	0.0:0.7758:0.147:0.0772	.	270;270;196	Q8TAS1-2;Q8TAS1;G3V1M1	.;UHMK1_HUMAN;.	V	196;270;270	ENSP00000441226:A196V;ENSP00000446416:A270V;ENSP00000420270:A270V	ENSP00000420270:A270V	A	+	2	0	UHMK1	160740223	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.179000	0.65043	0.865000	0.35603	0.655000	0.94253	GCC	UHMK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000152332		0.373	UHMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHMK1	HGNC	protein_coding	OTTHUMT00000076788.1	-	0	101	0	C	NM_175866		162473599	1	tier1	-	no_errors	ENST00000489294	ensembl	human	known	74_37	missense	5.62	84	5	SNP	0.998	T	T	162473599	C	T	162473599	3	4	87	1	0	0	0	0	1	0	0	0	17015	739	26	3	873	3	UHMK1	1	162473599	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1335714	162473599	86777022	148	23272											
CD247	919	genome.wustl.edu	37	chr1	167408611	167408611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttctggccctgctggtaCgcgggggcgtctgcgctcct	1	11	16	13	4	2	0	0	0	2	0	3	0	3	0	2	5	3	4	2	5	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:167408611C>T	ENST00000362089.5	-	3	261	c.189G>A	c.(187-189)gcG>gcA	p.A63A	CD247_ENST00000392122.3_Silent_p.A63A|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule	63	ITAM 1. {ECO:0000255|PROSITE- ProRule:PRU00379}.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	CCTGCTGGTACGCGGGGGCGT	0.672																																					Ovarian(192;1815 2869 36877 43334)												0													73	71	72					1																	167408611		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"CD molecules"	1677	protein-coding gene	gene with protein product		186780	"CD3z antigen, zeta polypeptide (TiT3 complex)", "CD247 antigen"	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.189G>A	1.37:g.167408611C>T			B1AK49|Q5VX13|Q8TAX4	Silent	SNP	pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.A63	ENST00000362089.5	37	c.189	CCDS1261.1	1																																																																																			CD247	-	pfscan_Phos_immunorcpt_sig_ITAM	ENSG00000198821		0.672	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1	-	0	71	0	C	NM_198053		167408611	-1	tier1	-	no_errors	ENST00000362089	ensembl	human	known	74_37	silent	22.37	59	17	SNP	0.000	T	T	167408611	C	T	167408611	2	4	87	1	0	0	0	0	0	0	0	1	2995	523	19	1		1	CD247	1	167408611	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4935012	167408611	81842010	149	23273											
DCAF6	55827	genome.wustl.edu	37	chr1	168034884	168034884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagtggttctgactgtggCcacattttcatctgggatcg	7	14	12	8	1	3	2	1	2	2	0	4	3	3	3	1	3	0	1	1	3	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:168034884C>T	ENST00000312263.6	+	16	2427	c.2223C>T	c.(2221-2223)ggC>ggT	p.G741G	DCAF6_ENST00000432587.2_Silent_p.G801G|DCAF6_ENST00000367843.3_Silent_p.G761G|DCAF6_ENST00000367840.3_Silent_p.G832G	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	741					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGACTGTGGCCACATTTTCA	0.393																																																	0													70	68	69					1																	168034884		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2223C>T	1.37:g.168034884C>T			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.G832	ENST00000312263.6	37	c.2496	CCDS30933.1	1																																																																																			DCAF6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143164		0.393	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0	60	0	C	NM_018442		168034884	1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	silent	31.58	39	18	SNP	1.000	T	T	168034884	C	T	168034884	2	4	87	1	0	0	0	0	0	0	0	1	4283	726	26	3		3	DCAF6	1	168034884	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	626273	168034884	81215737	150	23274											
BAT2L2	23215	genome.wustl.edu	37	chr1	171535520	171535520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgaacctaaagaacagcGgcagaagcagccacgagcag	16	2	11	12	2	0	3	0	1	0	2	0	4	0	3	3	1	6	3	3	1	5	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:171535520G>A	ENST00000338920.4	+	21	6497	c.6260G>A	c.(6259-6261)cGg>cAg	p.R2087Q	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R2087Q|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R2089Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R2089Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2087					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AAAGAACAGCGGCAGAAGCAG	0.403																																																	0													24	25	25					1																	171535520		2203	4294	6497	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"BAT2 domain containing 1", "HLA-B associated transcript 2-like 2"	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.6260G>A	1.37:g.171535520G>A	ENSP00000343629:p.Arg2087Gln		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.R2089Q	ENST00000338920.4	37	c.6266	CCDS1296.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.084850|4.084850	0.76642|0.76642	.|.	.|.	ENSG00000117523|ENSG00000117523	ENST00000495585|ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	.|T;T;T;T	.|0.02177	.|4.41;4.43;4.43;4.43	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.42548	.|D	.|0.000682	T|T	0.05410|0.05410	0.0143|0.0143	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	T|T	0.58008|0.58008	-0.7712|-0.7712	5|10	.|0.16420	.|T	.|0.52	.|.	18.6804|18.6804	0.91545|0.91545	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2087	.|Q9Y520-4	.|.	S|Q	635|2089;2041;2087;2089;2087;1844	.|ENSP00000375928:R2089Q;ENSP00000410219:R2087Q;ENSP00000356716:R2089Q;ENSP00000343629:R2087Q	.|ENSP00000343629:R2087Q	G|R	+|+	1|2	0|0	PRRC2C|PRRC2C	169802144|169802144	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.987000|0.987000	0.75469|0.75469	9.334000|9.334000	0.96470|0.96470	2.396000|2.396000	0.81511|0.81511	0.655000|0.655000	0.94253|0.94253	GGC|CGG	PRRC2C	-	NULL	ENSG00000117523		0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	-	0	48	0	G	NM_015172		171535520	1	tier1	-	no_errors	ENST00000392078	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A	A	171535520	G	A	171535520	3	1	87	1	0	0	0	0	1	0	0	0	1322	1116	39	1	6338	1	BAT2L2	1	171535520	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3500636	171535520	77715101	151	23275											
VAMP4	8674	genome.wustl.edu	37	chr1	171678847	171678847	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcgaagttgtttggaTctgttgctaaaagctgttgc	7	16	11	7	1	1	0	0	0	1	0	2	2	1	1	1	1	4	6	1	1	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:171678847T>A	ENST00000236192.7	-	6	689	c.303A>T	c.(301-303)agA>agT	p.R101S	VAMP4_ENST00000415773.1_Missense_Mutation_p.R100S|VAMP4_ENST00000367740.2_Missense_Mutation_p.R100S|VAMP4_ENST00000482519.1_5'UTR	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	101	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTTGTTTGGATCTGTTGCTAA	0.393																																																	0													191	162	171					1																	171678847		2203	4300	6503	SO:0001583	missense	0			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"Vesicle-associated membrane proteins"	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.303A>T	1.37:g.171678847T>A	ENSP00000236192:p.Arg101Ser		A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	pfam_Synaptobrevin,pfscan_Synaptobrevin,prints_Synaptobrevin	p.R101S	ENST00000236192.7	37	c.303	CCDS1298.1	1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.428122	0.62844	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	T;T;T	0.40756	1.02;1.02;1.02	5.46	5.46	0.80206	Synaptobrevin (2);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	N	0.25647	0.755	0.80722	D	1	B;P	0.40360	0.041;0.714	B;B	0.37091	0.022;0.241	T	0.04165	-1.0972	10	0.07030	T	0.85	.	14.3587	0.66754	0.0:0.0:0.0:1.0	.	100;101	O75379-2;O75379	.;VAMP4_HUMAN	S	101;100;100	ENSP00000236192:R101S;ENSP00000415627:R100S;ENSP00000356714:R100S	ENSP00000236192:R101S	R	-	3	2	VAMP4	169945470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	2.075000	0.62263	0.528000	0.53228	AGA	VAMP4	-	pfam_Synaptobrevin,pfscan_Synaptobrevin	ENSG00000117533		0.393	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VAMP4	HGNC	protein_coding	OTTHUMT00000304033.2	-	0	63	0	T	NM_003762		171678847	-1	tier1	-	no_errors	ENST00000236192	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	A	A	171678847	T	A	171678847	3	1	87	1	0	0	0	0	1	0	0	0	17164	1432	50	5	134	5	VAMP4	1	171678847	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	143327	171678847	77571774	152	23276											
DNM3	26052	genome.wustl.edu	37	chr1	171810847	171810847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggtgaaccgtctgcaGgacgcgttttcggcgctggg	4	9	16	12	6	1	1	0	1	1	0	2	2	1	2	2	4	2	4	2	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:171810847G>T	ENST00000355305.5	+	1	208	c.51G>T	c.(49-51)caG>caT	p.Q17H	DNM3_ENST00000367731.1_Missense_Mutation_p.Q17H|DNM3_ENST00000520906.1_Missense_Mutation_p.Q17H|DNM3_ENST00000367733.2_Missense_Mutation_p.Q17H|DNM3_ENST00000358155.4_Missense_Mutation_p.Q17H			Q9UQ16	DYN3_HUMAN	dynamin 3	17					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCGTCTGCAGGACGCGTTTT	0.682																																																	0													22	32	29					1																	171810847		2168	4284	6452	SO:0001583	missense	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"Pleckstrin homology (PH) domain containing"	29125	protein-coding gene	gene with protein product	"Dyna III"	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.51G>T	1.37:g.171810847G>T	ENSP00000347457:p.Gln17His		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.Q17H	ENST00000355305.5	37	c.51		1	.	.	.	.	.	.	.	.	.	.	g	32	5.167540	0.94768	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.95788	-3.81;-3.81;-3.81;-3.81;-3.81	3.6	3.6	0.41247	.	0.000000	0.64402	D	0.000001	D	0.97182	0.9079	M	0.83384	2.64	0.58432	D	0.999997	B;D;D;B	0.89917	0.228;1.0;1.0;0.049	B;D;D;B	0.74023	0.059;0.982;0.982;0.059	D	0.97786	1.0235	10	0.87932	D	0	.	14.2847	0.66238	0.0:0.0:1.0:0.0	.	17;17;17;17	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	H	17	ENSP00000350876:Q17H;ENSP00000356707:Q17H;ENSP00000347457:Q17H;ENSP00000356705:Q17H;ENSP00000429701:Q17H	ENSP00000347457:Q17H	Q	+	3	2	DNM3	170077470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.462000	0.60121	1.993000	0.58246	0.586000	0.80456	CAG	DNM3	-	superfamily_P-loop_NTPase,smart_Dynamin_GTPase	ENSG00000197959		0.682	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	DNM3	HGNC	protein_coding	OTTHUMT00000084531.1	-	0	132	0	G	NM_015569		171810847	1	tier1	-	no_errors	ENST00000358155	ensembl	human	known	74_37	missense	20.16	103	26	SNP	1.000	T	T	171810847	G	T	171810847	3	4	87	1	0	0	0	0	1	0	0	0	4687	991	35	3	53	3	DNM3	1	171810847	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	132000	171810847	77439774	153	23277											
GPR52	9293	genome.wustl.edu	37	chr1	174417673	174417673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgtggatcgttatcttGcaataaccaagcctctttcc	9	14	7	11	1	3	0	1	0	2	0	5	1	4	1	3	1	3	2	3	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:174417673G>A	ENST00000367685.2	+	1	462	c.424G>A	c.(424-426)Gca>Aca	p.A142T	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	142					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TCGTTATCTTGCAATAACCAA	0.413																																					Ovarian(92;924 1390 1930 16467 40583)												0													198	195	196					1																	174417673		2203	4300	6503	SO:0001583	missense	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.424G>A	1.37:g.174417673G>A	ENSP00000356658:p.Ala142Thr		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A142T	ENST00000367685.2	37	c.424	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228458	0.79576	.	.	ENSG00000203737	ENST00000367685	T	0.53423	0.62	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.71484	0.3345	M	0.74647	2.275	0.48135	D	0.999598	D	0.89917	1.0	D	0.97110	1.0	T	0.72707	-0.4212	10	0.87932	D	0	-9.2875	20.2789	0.98501	0.0:0.0:1.0:0.0	.	142	Q9Y2T5	GPR52_HUMAN	T	142	ENSP00000356658:A142T	ENSP00000356658:A142T	A	+	1	0	GPR52	172684296	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.441000	0.97557	2.788000	0.95919	0.650000	0.86243	GCA	GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203737		0.413	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1		0	42	0	G	NM_005684		174417673	1			no_errors	ENST00000367685	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	174417673	G	A	174417673	3	1	87	1	0	0	0	0	1	0	0	0	6724	1319	46	3	426	3	GPR52	1	174417673	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2606826	174417673	74832948	154	23278											
RASAL2	9462	genome.wustl.edu	37	chr1	178436542	178436542	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattgatgcaaagcagaaaAtaattgatgcacaggtaagc	17	10	9	5	0	0	3	0	2	0	1	0	3	0	3	0	1	4	4	0	1	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:178436542A>T	ENST00000462775.1	+	15	3366	c.3241A>T	c.(3241-3243)Ata>Tta	p.I1081L	RASAL2_ENST00000448150.3_Missense_Mutation_p.I1211L|RASAL2_ENST00000367649.3_Missense_Mutation_p.I1222L	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	1081					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAAGCAGAAAATAATTGATGC	0.413																																																	0													91	87	88					1																	178436542		2203	4300	6503	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.3241A>T	1.37:g.178436542A>T	ENSP00000420558:p.Ile1081Leu		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.I1222L	ENST00000462775.1	37	c.3664	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.021071|4.021071	0.75275|0.75275	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775;ENST00000367647|ENST00000433130	T;T;T|.	0.12672|.	2.66;2.66;2.66|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61590|0.61590	0.2359|0.2359	L|L	0.45137|0.45137	1.4|1.4	0.49798|0.49798	D|D	0.999821|0.999821	D;P;B|.	0.54397|.	0.966;0.885;0.207|.	P;P;B|.	0.57620|.	0.772;0.824;0.413|.	T|T	0.58476|0.58476	-0.7630|-0.7630	10|5	0.87932|.	D|.	0|.	.|.	15.5585|15.5585	0.76219|0.76219	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1211;1081;1222|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	L|I	1211;1222;1081;24|631	ENSP00000407768:I1211L;ENSP00000356621:I1222L;ENSP00000420558:I1081L|.	ENSP00000356619:I24L|.	I|N	+|+	1|2	0|0	RASAL2|RASAL2	176703165|176703165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.203000|7.203000	0.77864|0.77864	2.145000|2.145000	0.66743|0.66743	0.528000|0.528000	0.53228|0.53228	ATA|AAT	RASAL2	-	pfam_DUF3498	ENSG00000075391		0.413	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3		0	22	0	A	NM_170692		178436542	1			no_errors	ENST00000367649	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	178436542	A	T	178436542	3	4	87	1	0	0	0	0	1	0	0	0	13109	101	4	5	3768	5	RASAL2	1	178436542	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4018869	178436542	70814079	155	23279											
CEP350	9857	genome.wustl.edu	37	chr1	180063462	180063462	+	Frame_Shift_Del	DEL	A	A	-																															gaagtcatcactaaatgaggAaaaaaagtcaaaacaacaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:180063462delA	ENST00000367607.3	+	34	8640	c.8222delA	c.(8221-8223)gaafs	p.E2741fs	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2741					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTAAATGAGGAAAAAAAGTCA	0.353																																																	0													40	41	41					1																	180063462		2203	4300	6503	SO:0001589	frameshift_variant	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"centrosome associated protein 350"					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8222delA	1.37:g.180063462delA	ENSP00000356579:p.Glu2741fs		O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K2743fs	ENST00000367607.3	37	c.8222	CCDS1336.1	1																																																																																			CEP350	-	NULL	ENSG00000135837		0.353	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2		0	57	0	A	NM_014810		180063462	1	tier1		no_errors	ENST00000367607	ensembl	human	known	74_37	frame_shift_del	27.91	31	12	DEL	0.101	-	-	180063462	A	-	180063462	7	5	87	1	0	1	0	1	0	0	0	0	3261	246	9	0	8352	0	CEP350	1	180063462	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1626920	180063462	69187159	156	23280											
CACNA1E	777	genome.wustl.edu	37	chr1	181765945	181765945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagtccccagagcgccGtcaatccaggtcacccagtg	8	6	12	15	2	2	1	2	0	0	1	4	2	4	2	5	2	1	0	5	2	1	0	rs376695821	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:181765945G>A	ENST00000367573.2	+	47	6350	c.6350G>A	c.(6349-6351)cGt>cAt	p.R2117H	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2098H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2068H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1681H|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2055H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2074H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2006H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2117					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCAGAGCGCCGTCAATCCAGG	0.597													G|||	4	0.000798722	0	0	5008	,	,		18391	0		0	False		,,,				2504	0.0041																0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4050		0,0,2025	24	27	26		6221,6350,6164	-7	0	1		26	2,8376		0,2,4187	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	29,29,29	0,2,6212	AA,AG,GG		0.0239,0.0,0.0161	benign,benign,benign	2074/2271,2117/2314,2055/2252	181765945	2,12426	2025	4189	6214	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6350G>A	1.37:g.181765945G>A	ENSP00000356545:p.Arg2117His		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R2117H	ENST00000367573.2	37	c.6350	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401155	0.42613	0.0	2.39E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96587	-3.99;-3.99;-3.96;-3.99;-4.06;-3.96;-3.96	5.91	-7.0	0.01599	.	1.376480	0.03999	N	0.296102	D	0.92570	0.7640	L	0.27053	0.805	0.09310	N	0.999999	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.79776	-0.1661	10	0.48119	T	0.1	.	17.3005	0.87182	0.6998:0.0:0.3002:0.0	.	2055;2074	Q15878-2;Q15878-3	.;.	H	2074;2055;2068;2006;1681;2098;2117	ENSP00000356542:R2074H;ENSP00000434814:R2055H;ENSP00000350183:R2068H;ENSP00000351101:R2006H;ENSP00000356539:R1681H;ENSP00000353222:R2098H;ENSP00000356545:R2117H	ENSP00000350183:R2068H	R	+	2	0	CACNA1E	180032568	0.005000	0.15991	0.000000	0.03702	0.938000	0.57974	0.394000	0.20834	-1.312000	0.02306	-0.302000	0.09304	CGT	CACNA1E	-	NULL	ENSG00000198216		0.597	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	34	0	G	NM_000721		181765945	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.000	A	A	181765945	G	A	181765945	3	1	87	1	0	0	0	0	1	0	0	0	2549	1145	40	1	6403	1	CACNA1E	1	181765945	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1702483	181765945	67484676	157	23281											
ZNF648	127665	genome.wustl.edu	37	chr1	182025992	182025992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttggcgcccaggtgcGtgcgctggtggcgcagcagc	4	6	19	12	4	0	0	0	0	0	0	0	0	0	0	1	5	4	4	1	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:182025992G>A	ENST00000339948.3	-	2	1361	c.1154C>T	c.(1153-1155)aCg>aTg	p.T385M		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCCCAGGTGCGTGCGCTGGTG	0.682																																					NSCLC(71;908 1374 5429 20458 35642)												0													30	30	30					1																	182025992		2188	4271	6459	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1154C>T	1.37:g.182025992G>A	ENSP00000344129:p.Thr385Met		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T385M	ENST00000339948.3	37	c.1154	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707817	0.48412	.	.	ENSG00000179930	ENST00000339948	T	0.20332	2.08	2.81	1.89	0.25635	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	M	0.72353	2.195	0.35271	D	0.780486	P	0.43094	0.799	B	0.36959	0.237	T	0.27706	-1.0066	9	0.59425	D	0.04	.	4.0872	0.09953	0.1399:0.2462:0.6139:0.0	.	385	Q5T619	ZN648_HUMAN	M	385	ENSP00000344129:T385M	ENSP00000344129:T385M	T	-	2	0	ZNF648	180292615	0.258000	0.24033	0.995000	0.50966	0.971000	0.66376	0.679000	0.25291	0.739000	0.32628	0.561000	0.74099	ACG	ZNF648	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179930		0.682	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	-	0	19	0	G	XM_060597		182025992	-1	tier1	-	no_errors	ENST00000339948	ensembl	human	novel	74_37	missense	27.27	16	6	SNP	0.985	A	A	182025992	G	A	182025992	3	1	87	1	0	0	0	0	1	0	0	0	18111	1145	40	1	556	1	ZNF648	1	182025992	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	260047	182025992	67224629	158	23282											
DHX9	1660	genome.wustl.edu	37	chr1	182852698	182852698	+	Frame_Shift_Del	DEL	C	C	-																															taaaggcatgactttagtcaCccccctgcagttgcttctct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:182852698delC	ENST00000367549.3	+	26	3298	c.3188delC	c.(3187-3189)accfs	p.T1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 3; CAA71668). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACTTTAGTCACCCCCCTGCAG	0.438																																					Colon(69;210 1162 3697 13559 39565)												0													125	117	120					1																	182852698		1850	4108	5958	SO:0001589	frameshift_variant	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3188delC	1.37:g.182852698delC	ENSP00000356520:p.Thr1063fs		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Frame_Shift_Del	DEL	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.L1065fs	ENST00000367549.3	37	c.3188	CCDS41444.1	1																																																																																			DHX9	-	pfam_DUF1605	ENSG00000135829		0.438	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2		0	45	0	C	NM_030588		182852698	1	tier1		no_errors	ENST00000367549	ensembl	human	known	74_37	frame_shift_del	24.44	34	11	DEL	0.984	-	-	182852698	C	-	182852698	7	5	87	1	0	1	0	1	0	0	0	0	4530	507	18	0	3286	0	DHX9	1	182852698	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	826706	182852698	66397923	159	23283											
C1orf14	81626	genome.wustl.edu	37	chr1	182909500	182909500	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcaataacatgtataTcagtatcttgtccctcaaca	15	11	4	11	0	3	0	2	0	1	0	4	0	4	0	2	0	3	3	2	0	7	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:182909500T>A	ENST00000367547.3	-	3	970	c.734A>T	c.(733-735)gAt>gTt	p.D245V	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.D126V	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	317										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AACATGTATATCAGTATCTTG	0.353																																																	0													117	113	114					1																	182909500		2203	4300	6503	SO:0001583	missense	0			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 14"	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.734A>T	1.37:g.182909500T>A	ENSP00000356518:p.Asp245Val		Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.D245V	ENST00000367547.3	37	c.734	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	T	5.256	0.232720	0.09969	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.49720	0.77;0.79	4.67	2.19	0.27852	.	0.234460	0.29624	N	0.011638	T	0.36026	0.0952	L	0.49350	1.555	0.20074	N	0.999931	B;B	0.16396	0.006;0.017	B;B	0.21151	0.007;0.033	T	0.22626	-1.0211	10	0.26408	T	0.33	-4.9235	5.6174	0.17438	0.1653:0.0:0.3422:0.4925	.	126;245	Q9BZQ2-2;Q9BZQ2-3	.;.	V	245;314;126	ENSP00000356518:D245V;ENSP00000397308:D126V	ENSP00000287709:D314V	D	-	2	0	SHCBP1L	181176123	0.175000	0.23083	0.001000	0.08648	0.484000	0.33280	0.825000	0.27393	0.129000	0.18514	0.533000	0.62120	GAT	SHCBP1L	-	NULL	ENSG00000157060		0.353	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	-	0	60	0	T	NM_030933		182909500	-1	tier1	-	no_errors	ENST00000367547	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.003	A	A	182909500	T	A	182909500	3	1	87	1	0	0	0	0	1	0	0	0	2007	1435	50	5	1259	5	C1orf14	1	182909500	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	56802	182909500	66341121	160	23284											
NMNAT2	23057	genome.wustl.edu	37	chr1	183261950	183261950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaatcagaattctggacggCcagctgacacatgatgagac	13	7	10	11	1	2	4	1	3	1	2	2	6	2	5	2	2	1	1	2	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:183261950C>G	ENST00000287713.6	-	3	551	c.217G>C	c.(217-219)Gcc>Ccc	p.A73P	NMNAT2_ENST00000473046.1_5'Flank|NMNAT2_ENST00000294868.4_Missense_Mutation_p.A68P	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	73					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TTCTGGACGGCCAGCTGACAC	0.567																																																	0													65	56	59					1																	183261950		2203	4300	6503	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.217G>C	1.37:g.183261950C>G	ENSP00000287713:p.Ala73Pro		O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	pfam_Cyt_trans-like	p.A73P	ENST00000287713.6	37	c.217	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011372	0.93346	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97850	-4.57;-4.57	5.23	5.23	0.72850	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.051972	0.85682	N	0.000000	D	0.98676	0.9556	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99849	1.1069	10	0.87932	D	0	-9.5557	17.3881	0.87422	0.0:1.0:0.0:0.0	.	73;68	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	P	73;68	ENSP00000287713:A73P;ENSP00000294868:A68P	ENSP00000287713:A73P	A	-	1	0	NMNAT2	181528573	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.751000	0.74893	2.438000	0.82558	0.557000	0.71058	GCC	NMNAT2	-	pfam_Cyt_trans-like	ENSG00000157064		0.567	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	HGNC	protein_coding	OTTHUMT00000086255.1	-	0	50	0	C			183261950	-1	tier1	-	no_errors	ENST00000287713	ensembl	human	known	74_37	missense	24.56	43	14	SNP	1.000	G	G	183261950	C	G	183261950	3	3	87	1	0	0	0	0	1	0	0	0	10538	739	26	5	742	5	NMNAT2	1	183261950	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	352450	183261950	65988671	161	23285											
HMCN1	83872	genome.wustl.edu	37	chr1	185891603	185891604	+	Frame_Shift_Ins	INS	-	-	A																															gaaagcccaccctggacttcINSaaaaaaacagtcagcagacc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:185891603_185891604insA	ENST00000271588.4	+	7	1222_1223	c.993_994insA	c.(994-996)aaafs	p.K332fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.K332fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	332					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCTGGACTTCAAAAAAACAGT	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1000dupA	1.37:g.185891610_185891610dupA	ENSP00000271588:p.Lys332fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.T333fs	ENST00000271588.4	37	c.993_994	CCDS30956.1	1																																																																																			HMCN1	-	NULL	ENSG00000143341		0.391	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0	61	0	-	NM_031935		185891604	1	tier1		no_errors	ENST00000271588	ensembl	human	known	74_37	frame_shift_ins	19.57	37	9	INS	1.000:1.000	A	A	185891604	-	A	185891603	7	5	87	1	0	1	1	0	0	0	0	0	7247	825	29	0	1019	0	HMCN1	1	185891603	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2629653	185891603	63359018	162	23286											
HMCN1	83872	genome.wustl.edu	37	chr1	185951461	185951461	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcagcttactttgccCtgtactctgttagctggaaa	9	12	10	10	0	1	0	0	0	1	0	1	2	1	2	1	2	6	5	1	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:185951461C>A	ENST00000271588.4	+	18	2959	c.2730C>A	c.(2728-2730)ccC>ccA	p.P910P	HMCN1_ENST00000367492.2_Silent_p.P910P|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	910	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTACTTTGCCCTGTACTCTGT	0.418																																																	0													166	158	161					1																	185951461		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2730C>A	1.37:g.185951461C>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P910	ENST00000271588.4	37	c.2730	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000143341		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	69	0	C	NM_031935		185951461	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	16.09	73	14	SNP	0.998	A	A	185951461	C	A	185951461	2	1	87	1	0	0	0	0	0	0	0	1	7247	668	24	3		3	HMCN1	1	185951461	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	59858	185951461	63299160	163	23287											
PRG4	10216	genome.wustl.edu	37	chr1	186276771	186276771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacccctgagaagccCgcacccaccacccctgagga	10	2	7	22	1	0	2	0	2	0	1	0	4	0	3	9	1	1	1	9	1	1	0	rs561412418		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:186276771C>T	ENST00000445192.2	+	7	1965	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P	PRG4_ENST00000367485.4_Silent_p.P547P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P599P|PRG4_ENST00000367486.3_Silent_p.P597P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	640	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGAGAAGCCCGCACCCACCA	0.692													-|||	1	0.000199681	0	0	5008	,	,		7274	0.001		0	False		,,,				2504	0																0													27	31	30					1																	186276771		2198	4290	6488	SO:0001819	synonymous_variant	0			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"lubricin", "megakaryocyte stimulating factor", "articular superficial zone protein", "Jacobs camptodactyly-arthropathy-pericarditis syndrome", "camptodactyly, arthropathy, coxa vara, pericarditis syndrome", "bG174L6.2 (MSF: megakaryocyte stimulating factor )"	604283	"proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1920C>T	1.37:g.186276771C>T			Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom	p.P640	ENST00000445192.2	37	c.1920	CCDS1369.1	1																																																																																			PRG4	-	NULL	ENSG00000116690		0.692	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	-	0	76	0	C	NM_005807		186276771	1	tier1	rs142961862	no_errors	ENST00000445192	ensembl	human	known	74_37	silent	30.16	44	19	SNP	0.000	T	T	186276771	C	T	186276771	2	4	87	1	0	0	0	0	0	0	0	1	12523	639	23	1		1	PRG4	1	186276771	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	325310	186276771	62973850	164	23288											
TPR	7175	genome.wustl.edu	37	chr1	186312523	186312523	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctctttctaaaagttCaaccctttgtcgataacgca	11	13	5	12	2	3	0	1	0	2	0	5	1	3	0	1	0	3	3	1	0	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:186312523C>A	ENST00000367478.4	-	27	3981	c.3685G>T	c.(3685-3687)Gaa>Taa	p.E1229*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1229	Necessary for interaction with HSF1.				carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTAAAAGTTCAACCCTTTGT	0.383			T	NTRK1	papillary thyroid																																			Dom	yes		1	1q25	7175	translocated promoter region		E	0													138	133	135					1																	186312523		1931	4147	6078	SO:0001587	stop_gained	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"translocated promoter region (to activated MET oncogene)"			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3685G>T	1.37:g.186312523C>A	ENSP00000356448:p.Glu1229*		Q15655|Q5SWY0|Q99968	Nonsense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.E1229*	ENST00000367478.4	37	c.3685	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	C	46	12.451238	0.99669	.	.	ENSG00000047410	ENST00000367478	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	18.9746	0.92730	0.0:1.0:0.0:0.0	.	.	.	.	X	1229	.	ENSP00000356448:E1229X	E	-	1	0	TPR	184579146	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.488000	0.83962	0.561000	0.74099	GAA	TPR	-	NULL	ENSG00000047410		0.383	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	-	0	44	0	C	NM_003292		186312523	-1	tier1	-	no_errors	ENST00000367478	ensembl	human	known	74_37	nonsense	18.18	36	8	SNP	1.000	A	A	186312523	C	A	186312523	4	1	87	1	0	0	0	0	0	1	0	0	16464	835	29	3	3506	3	TPR	1	186312523	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	35752	186312523	62938098	165	23289											
FAM5C	339479	genome.wustl.edu	37	chr1	190067209	190067209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttggcattaaacgccTgcagagcagattggatcctc	11	10	10	10	1	0	2	0	0	0	2	2	3	1	3	2	2	3	4	2	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:190067209T>C	ENST00000367462.3	-	8	2471	c.2240A>G	c.(2239-2241)cAg>cGg	p.Q747R	BRINP3_ENST00000534846.1_Missense_Mutation_p.Q645R	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	747					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.Q747P(1)									ATTAAACGCCTGCAGAGCAGA	0.438																																																	1	Substitution - Missense(1)	lung(1)											137	133	134					1																	190067209		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2240A>G	1.37:g.190067209T>C	ENSP00000356432:p.Gln747Arg		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.Q747R	ENST00000367462.3	37	c.2240	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623035	0.46840	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18016	2.51;2.24	5.72	5.72	0.89469	.	0.059118	0.64402	D	0.000001	T	0.10035	0.0246	N	0.11927	0.2	0.58432	D	0.999992	B;B	0.24186	0.069;0.099	B;B	0.20767	0.031;0.014	T	0.26121	-1.0112	10	0.15066	T	0.55	.	13.9511	0.64118	0.0:0.0:0.0:1.0	.	645;747	B7Z260;Q76B58	.;FAM5C_HUMAN	R	747;645	ENSP00000356432:Q747R;ENSP00000438022:Q645R	ENSP00000356432:Q747R	Q	-	2	0	FAM5C	188333832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.969000	0.63735	2.176000	0.68965	0.528000	0.53228	CAG	BRINP3	-	NULL	ENSG00000162670		0.438	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1		0	14	0	T	NM_199051		190067209	-1			no_errors	ENST00000367462	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	C	C	190067209	T	C	190067209	3	2	87	1	0	0	0	0	1	0	0	0	5616	1580	55	4	64	4	FAM5C	1	190067209	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3754686	190067209	59183412	166	23290											
F13B	2165	genome.wustl.edu	37	chr1	197021828	197021828	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagataattcagacaaTggggttaatggagataagtc	15	10	11	5	0	1	3	1	0	0	3	2	4	1	3	0	3	1	2	0	3	4	4	rs535360566		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:197021828T>C	ENST00000367412.1	-	9	1534	c.1491A>G	c.(1489-1491)ccA>ccG	p.P497P	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	497	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTCAGACAATGGGGTTAATG	0.318																																																	0													107	106	106					1																	197021828		2203	4294	6497	SO:0001819	synonymous_variant	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1491A>G	1.37:g.197021828T>C			A8K3E5|Q5VYL5	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P497	ENST00000367412.1	37	c.1491	CCDS1388.1	1																																																																																			F13B	-	superfamily_Sushi_SCR_CCP	ENSG00000143278		0.318	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2	-	0	66	0	T	NM_001994		197021828	-1	tier1	-	no_errors	ENST00000367412	ensembl	human	known	74_37	silent	13.64	38	6	SNP	0.000	C	C	197021828	T	C	197021828	2	2	87	1	0	0	0	0	0	0	0	1	5357	1451	51	4		4	F13B	1	197021828	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	6954619	197021828	52228793	167	23291											
F13B	2165	genome.wustl.edu	37	chr1	197032137	197032137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcttttaaaagtatagtAatattgggcaattcttccat	15	15	6	5	0	1	0	0	0	1	0	2	0	2	0	1	1	1	4	1	1	8	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:197032137A>G	ENST00000367412.1	-	2	158	c.115T>C	c.(115-117)Tac>Cac	p.Y39H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	39	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAAGTATAGTAATATTGGGCA	0.333																																																	0													106	120	115					1																	197032137		2203	4300	6503	SO:0001583	missense	0			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.115T>C	1.37:g.197032137A>G	ENSP00000356382:p.Tyr39His		A8K3E5|Q5VYL5	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y39H	ENST00000367412.1	37	c.115	CCDS1388.1	1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809155	0.70797	.	.	ENSG00000143278	ENST00000367412	T	0.27720	1.65	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (1);	0.000000	0.30401	N	0.009709	T	0.53318	0.1789	M	0.68952	2.095	0.50313	D	0.999869	D	0.89917	1.0	D	0.97110	1.0	T	0.49011	-0.8983	10	0.30854	T	0.27	.	15.7383	0.77863	1.0:0.0:0.0:0.0	.	39	P05160	F13B_HUMAN	H	39	ENSP00000356382:Y39H	ENSP00000356382:Y39H	Y	-	1	0	F13B	195298760	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	6.082000	0.71318	2.120000	0.65058	0.533000	0.62120	TAC	F13B	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP	ENSG00000143278		0.333	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13B	HGNC	protein_coding	OTTHUMT00000088821.2		0	29	0	A	NM_001994		197032137	-1			no_errors	ENST00000367412	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	G	G	197032137	A	G	197032137	3	3	87	1	0	0	0	0	1	0	0	0	5357	362	13	4	1914	4	F13B	1	197032137	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	10309	197032137	52218484	168	23292											
PTPRC	5788	genome.wustl.edu	37	chr1	198697519	198697519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctgattattgtgacaTcaatagccctgcttgttgtt	8	18	7	8	0	2	2	1	2	1	0	2	2	2	2	1	0	2	3	1	0	3	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:198697519T>C	ENST00000367376.2	+	16	1936	c.1765T>C	c.(1765-1767)Tca>Cca	p.S589P	PTPRC_ENST00000348564.6_Missense_Mutation_p.S430P|PTPRC_ENST00000352140.3_Missense_Mutation_p.S541P|PTPRC_ENST00000594404.1_Missense_Mutation_p.S428P|PTPRC_ENST00000442510.2_Missense_Mutation_p.S591P	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	589					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TATTGTGACATCAATAGCCCT	0.294																																																	0													124	130	128					1																	198697519		2203	4299	6502	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1765T>C	1.37:g.198697519T>C	ENSP00000356346:p.Ser589Pro		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S591P	ENST00000367376.2	37	c.1771		1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473895	0.43942	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.03272	3.99	5.47	4.33	0.51752	.	0.415744	0.18172	N	0.149435	T	0.06188	0.0160	M	0.76328	2.33	0.47123	D	0.999327	B;B;B;B;B	0.33238	0.154;0.403;0.092;0.092;0.092	B;B;B;B;B	0.31547	0.132;0.132;0.06;0.06;0.06	T	0.14924	-1.0455	10	0.46703	T	0.11	.	7.7684	0.28993	0.1374:0.0:0.1438:0.7188	.	525;525;430;541;589	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	P	591;525;541;541;475;589;523;428	ENSP00000193532:S541P	ENSP00000306782:S428P	S	+	1	0	PTPRC	196964142	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	1.564000	0.36375	0.873000	0.35799	-0.420000	0.06012	TCA	PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0	91	0	T			198697519	1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	27.88	75	29	SNP	1.000	C	C	198697519	T	C	198697519	3	2	87	1	0	0	0	0	1	0	0	0	12842	1435	50	4	1834	4	PTPRC	1	198697519	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1665382	198697519	50553102	169	23293											
KIF14	9928	genome.wustl.edu	37	chr1	200524515	200524515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcttctcttacaattttcGattcagcaaagatgttttca	12	16	5	8	1	3	1	2	0	1	1	5	2	3	1	0	0	3	3	0	0	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:200524515G>A	ENST00000367350.4	-	28	4859	c.4421C>T	c.(4420-4422)tCg>tTg	p.S1474L		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1474	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACAATTTTCGATTCAGCAAA	0.249																																																	0													51	55	54					1																	200524515		2201	4285	6486	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"Kinesins"	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4421C>T	1.37:g.200524515G>A	ENSP00000356319:p.Ser1474Leu		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1474L	ENST00000367350.4	37	c.4421	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855742	0.32791	.	.	ENSG00000118193	ENST00000367350	T	0.71817	-0.6	5.09	3.23	0.37069	.	0.371964	0.28914	N	0.013736	T	0.44540	0.1298	N	0.08118	0	0.26871	N	0.967749	B	0.02656	0.0	B	0.01281	0.0	T	0.22521	-1.0214	10	0.09843	T	0.71	.	9.3732	0.38268	0.1598:0.6801:0.1601:0.0	.	1474	Q15058	KIF14_HUMAN	L	1474	ENSP00000356319:S1474L	ENSP00000356319:S1474L	S	-	2	0	KIF14	198791138	1.000000	0.71417	0.964000	0.40570	0.865000	0.49528	1.427000	0.34881	0.727000	0.32360	-0.823000	0.03104	TCG	KIF14	-	NULL	ENSG00000118193		0.249	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	-	0	93	0	G	NM_014875		200524515	-1	tier1	-	no_errors	ENST00000367350	ensembl	human	known	74_37	missense	26.37	67	24	SNP	0.995	A	A	200524515	G	A	200524515	3	1	87	1	0	0	0	0	1	0	0	0	8303	1059	37	1	537	1	KIF14	1	200524515	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1826996	200524515	48726106	170	23294											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200709046	200709046	+	Frame_Shift_Del	DEL	A	A	-																															actatgatttctccagggccAaaatcgcctgcaatctggcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:200709046delA	ENST00000236925.4	+	1	140	c.91delA	c.(91-93)aaafs	p.K31fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.K31fs|CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.K31fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	31					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CTCCAGGGCCAAAATCGCCTG	0.547																																																	0													113	106	108					1																	200709046		2203	4300	6503	SO:0001589	frameshift_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.91delA	1.37:g.200709046delA	ENSP00000236925:p.Lys31fs		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.I32fs	ENST00000236925.4	37	c.91		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.547	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2		0	59	0	A	NM_203459		200709046	1	tier1		no_errors	ENST00000236925	ensembl	human	known	74_37	frame_shift_del	16.67	40	8	DEL	1.000	-	-	200709046	A	-	200709046	7	5	87	1	0	1	0	1	0	0	0	0	2619	131	5	0	93	0	CAMSAP1L1	1	200709046	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	184531	200709046	48541575	171	23295											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200816338	200816339	+	Splice_Site	INS	-	-	G																															aatttattttccattgcagtINSggggaaggagctacatttac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:200816338_200816339insG	ENST00000236925.4	+	10	1192_1193	c.1143_1144insG	c.(1144-1146)ggg>Gggg	p.G382fs	CAMSAP2_ENST00000413307.2_Intron|CAMSAP2_ENST00000358823.2_Splice_Site_p.G371fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	382					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										TCCATTGCAGTGGGGAAGGAGC	0.347																																																	0																																										SO:0001630	splice_region_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.1143-1->G	1.37:g.200816342_200816342dupG			B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Ins	INS	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.E382fs	ENST00000236925.4	37	c.1143_1144		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.347	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2		0	62	0	0	NM_203459	Frame_Shift_Ins	200816339	1			no_errors	ENST00000236925	ensembl	human	known	74_37	frame_shift_ins	11.90	74	10	INS	0.550:0.591	G	G	200816339	-	G	200816338	8	5	87	1	0	1	1	0	0	0	1	0	2619	1710	59	0	1144	0	CAMSAP1L1	1	200816338	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	107292	200816338	48434283	172	23296											
LMOD1	25802	genome.wustl.edu	37	chr1	201869461	201869461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggtgtctgtgttcctaCgctccccttttaccttctca	3	18	6	14	1	3	0	1	0	3	0	6	0	5	0	4	1	2	2	4	1	2	6	rs199655500	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:201869461C>T	ENST00000367288.4	-	2	926	c.680G>A	c.(679-681)cGt>cAt	p.R227H	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	227	8 X approximate tandem repeats.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTGTTCCTACGctccccttt	0.473													C|||	5	0.000998403	8e-04	0	5008	,	,		21570	0.004		0	False		,,,				2504	0																0								C	HIS/ARG	0,4040		0,0,2020	133	123	126		680	4.3	0	1		126	2,8350		0,2,4174	yes	missense	LMOD1	NM_012134.2	29	0,2,6194	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging	227/601	201869461	2,12390	2020	4176	6196	SO:0001583	missense	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.680G>A	1.37:g.201869461C>T	ENSP00000356257:p.Arg227His		B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R227H	ENST00000367288.4	37	c.680	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909846	0.33721	0.0	2.39E-4	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.22743	1.94	5.25	4.32	0.51571	.	0.643235	0.12779	N	0.439816	T	0.10937	0.0267	N	0.14661	0.345	0.09310	N	1	P;P	0.48350	0.909;0.909	B;B	0.32805	0.153;0.099	T	0.08166	-1.0735	10	0.40728	T	0.16	-0.2748	12.3196	0.54977	0.0:0.9156:0.0:0.0844	.	176;227	B4E3S9;P29536	.;LMOD1_HUMAN	H	227;227;176	ENSP00000356257:R227H	ENSP00000356257:R227H	R	-	2	0	LMOD1	200136084	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.238000	0.02919	1.312000	0.45043	0.655000	0.94253	CGT	LMOD1	-	NULL	ENSG00000163431		0.473	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	-	0	109	0	C			201869461	-1	tier1	rs199655500	no_errors	ENST00000367288	ensembl	human	known	74_37	missense	9.68	56	6	SNP	0.012	T	T	201869461	C	T	201869461	3	4	87	1	0	0	0	0	1	0	0	0	8886	536	19	1	1130	1	LMOD1	1	201869461	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1053123	201869461	47381160	173	23297											
ADORA1	134	genome.wustl.edu	37	chr1	203134456	203134456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggatcctctccttcGtggtgggactgacccctatg	4	12	12	13	1	1	1	0	1	1	0	4	3	2	3	4	3	1	2	4	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:203134456G>A	ENST00000367236.4	+	3	1330	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	ADORA1_ENST00000337894.4_Missense_Mutation_p.V137M|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.V137M	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	137					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	CCTCTCCTTCGTGGTGGGACT	0.647																																																	0													71	74	73					1																	203134456		2203	4300	6503	SO:0001583	missense	0			BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"GPCR / Class A : Adenosine receptors"	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.409G>A	1.37:g.203134456G>A	ENSP00000356205:p.Val137Met		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt	p.V137M	ENST00000367236.4	37	c.409	CCDS1434.1	1	.	.	.	.	.	.	.	.	.	.	G	8.924	0.961752	0.18583	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894	T;T;T	0.39997	1.05;1.05;1.05	5.05	2.93	0.34026	GPCR, rhodopsin-like superfamily (1);	0.321514	0.33650	N	0.004695	T	0.46483	0.1395	L	0.41906	1.305	0.34923	D	0.748608	D;D;B	0.56968	0.967;0.978;0.027	P;P;B	0.54100	0.563;0.742;0.042	T	0.63594	-0.6602	10	0.72032	D	0.01	-15.449	13.9409	0.64054	0.0:0.594:0.406:0.0	.	170;69;137	B7Z379;B7Z1L9;P30542	.;.;AA1R_HUMAN	M	137	ENSP00000308549:V137M;ENSP00000356205:V137M;ENSP00000338435:V137M	ENSP00000308549:V137M	V	+	1	0	ADORA1	201401079	0.627000	0.27129	0.897000	0.35233	0.249000	0.25844	1.171000	0.31896	1.226000	0.43582	0.462000	0.41574	GTG	ADORA1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000163485		0.647	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA1	HGNC	protein_coding	OTTHUMT00000100273.1	-	0	60	0	G	NM_000674		203134456	1	tier1	-	no_errors	ENST00000309502	ensembl	human	known	74_37	missense	29.73	52	22	SNP	0.991	A	A	203134456	G	A	203134456	3	1	87	1	0	0	0	0	1	0	0	0	326	1145	40	1	415	1	ADORA1	1	203134456	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1264995	203134456	46116165	174	23298											
MYBPH	4608	genome.wustl.edu	37	chr1	203141132	203141132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggcggatgtaggtcTgacggaggtggcgggggaca	7	6	19	9	3	1	1	0	1	1	0	1	4	1	4	2	8	0	1	2	8	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:203141132T>C	ENST00000255416.4	-	4	602	c.545A>G	c.(544-546)cAg>cGg	p.Q182R		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	182	Ig-like C2-type 1.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GATGTAGGTCTGACGGAGGTG	0.602																																					NSCLC(32;174 1025 14462 23899 42933)												0													33	32	32					1																	203141132		2203	4300	6503	SO:0001583	missense	0			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.545A>G	1.37:g.203141132T>C	ENSP00000255416:p.Gln182Arg		Q16886|Q86YC5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q182R	ENST00000255416.4	37	c.545	CCDS30975.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128417	0.77549	.	.	ENSG00000133055	ENST00000255416	T	0.40756	1.02	4.84	4.84	0.62591	Immunoglobulin subtype (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.127304	0.36338	N	0.002658	T	0.62405	0.2425	M	0.72353	2.195	0.44254	D	0.9971	D	0.58268	0.982	D	0.71414	0.973	T	0.64927	-0.6292	10	0.52906	T	0.07	.	14.5467	0.68035	0.0:0.0:0.0:1.0	.	182	Q13203	MYBPH_HUMAN	R	182	ENSP00000255416:Q182R	ENSP00000255416:Q182R	Q	-	2	0	MYBPH	201407755	0.886000	0.30341	1.000000	0.80357	0.993000	0.82548	2.826000	0.48104	2.155000	0.67459	0.459000	0.35465	CAG	MYBPH	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000133055		0.602	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	HGNC	protein_coding	OTTHUMT00000100264.1	-	0	61	0	T	NM_004997		203141132	-1	tier1	-	no_errors	ENST00000255416	ensembl	human	known	74_37	missense	10.45	60	7	SNP	1.000	C	C	203141132	T	C	203141132	3	2	87	1	0	0	0	0	1	0	0	0	10052	1580	55	4	916	4	MYBPH	1	203141132	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	6676	203141132	46109489	175	23299											
PLEKHA6	22874	genome.wustl.edu	37	chr1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-																															aaggtcttcaggcgggggtaCcccccggcgcagattcaccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																																	2	Deletion - Frameshift(2)	large_intestine(2)											43	47	46					1																	204228411		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs		A7MD51|Q5VTI6	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V328fs	ENST00000272203.3	37	c.982	CCDS1444.1	1																																																																																			PLEKHA6	-	NULL	ENSG00000143850		0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3		0	50	0	C	NM_014935		204228411	-1	tier1		no_errors	ENST00000272203	ensembl	human	known	74_37	frame_shift_del	32.14	38	18	DEL	0.000	-	-	204228411	C	-	204228411	7	5	87	1	0	1	0	1	0	0	0	0	12099	507	18	0	2224	0	PLEKHA6	1	204228411	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1087279	204228411	45022210	176	23300											
NFASC	23114	genome.wustl.edu	37	chr1	204923438	204923439	+	Frame_Shift_Ins	INS	-	-	G																															gggcggccggaggaatatgaINSgggggaatatcagtgcttcg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:204923438_204923439insG	ENST00000401399.1	+	5	537_538	c.338_339insG	c.(337-342)gaggggfs	p.EG113fs	NFASC_ENST00000367172.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000404907.1_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.EG113fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.EG107fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.EG107fs			O94856	NFASC_HUMAN	neurofascin	113	Ig-like C2-type 1.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GAGGAATATGAGGGGGAATATC	0.589																																																	0																																										SO:0001589	frameshift_variant	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.343dupG	1.37:g.204923443_204923443dupG	ENSP00000385637:p.Glu113fs		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E115fs	ENST00000401399.1	37	c.338_339	CCDS53460.1	1																																																																																			NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163531		0.589	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1		0	72	0	-	NM_001005388		204923439	1	tier1		no_errors	ENST00000367172	ensembl	human	known	74_37	frame_shift_ins	11.27	63	8	INS	1.000:1.000	G	G	204923439	-	G	204923438	7	5	87	1	0	1	1	0	0	0	0	0	10398	304	11	0	352	0	NFASC	1	204923438	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	695027	204923438	44327183	177	23301											
NFASC	23114	genome.wustl.edu	37	chr1	204939850	204939850	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaaacccactgtccagtgGatggtgaatggggaaccttt	10	9	11	11	0	0	1	0	1	0	0	1	3	1	3	4	4	2	0	4	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:204939850G>A	ENST00000401399.1	+	10	1309	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	NFASC_ENST00000367172.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.W381*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.W381*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.W370*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.W370*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000367170.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.W370*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.W370*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.W381*|NFASC_ENST00000403080.1_Nonsense_Mutation_p.W370*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.W381*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.W364*			O94856	NFASC_HUMAN	neurofascin	370	Ig-like C2-type 4.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTGTCCAGTGGATGGTGAATG	0.532																																																	0													128	104	112					1																	204939850		2203	4300	6503	SO:0001587	stop_gained	0			AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	29866	protein-coding gene	gene with protein product		609145	"neurofascin homolog (chicken)"			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1110G>A	1.37:g.204939850G>A	ENSP00000385637:p.Trp370*		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W370*	ENST00000401399.1	37	c.1110	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.819023|9.819023	0.99272|0.99272	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|.	.|.	.|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.000000	.|0.50627	.|D	.|0.000105	T|.	0.47600|.	0.1454|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37079|.	-0.9721|.	3|.	.|0.02654	.|T	.|1	.|.	19.2963|19.2963	0.94124|0.94124	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	340|370;370;370;370;370;370;381;381;381;370;370;364;370;381;381;357	.|.	.|ENSP00000295776:W381X	G|W	+|+	2|3	0|0	NFASC|NFASC	203206473|203206473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.757000|9.757000	0.98924|0.98924	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	GGA|TGG	NFASC	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163531		0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	-	0	62	0	G	NM_001005388		204939850	1	tier1	-	no_errors	ENST00000367172	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	A	A	204939850	G	A	204939850	4	1	87	1	0	0	0	0	0	1	0	0	10398	1183	41	3	1199	3	NFASC	1	204939850	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	16412	204939850	44310771	178	23302											
TMCC2	9911	genome.wustl.edu	37	chr1	205211075	205211075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccagcaccagtgccGtccccgctcttcctccacca	6	7	6	22	2	1	0	0	0	1	0	4	0	4	0	9	0	3	3	9	0	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:205211075G>A	ENST00000358024.3	+	2	1039	c.650G>A	c.(649-651)cGt>cAt	p.R217H	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.R139H	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	217						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCAGTGCCGTCCCCGCTCT	0.682																																																	0													21	19	20					1																	205211075		2181	4280	6461	SO:0001583	missense	0			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"Transmembrane and coiled-coil domain containing"	24239	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 2"			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.650G>A	1.37:g.205211075G>A	ENSP00000350718:p.Arg217His		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.R217H	ENST00000358024.3	37	c.650	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379834	0.61845	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.60424	0.19;0.3	5.06	4.15	0.48705	.	0.000000	0.56097	D	0.000031	T	0.49184	0.1542	L	0.41492	1.28	0.50632	D	0.999882	B	0.18310	0.027	B	0.10450	0.005	T	0.49341	-0.8950	10	0.87932	D	0	.	13.1471	0.59467	0.0784:0.0:0.9216:0.0	.	217	O75069	TMCC2_HUMAN	H	217;139	ENSP00000350718:R217H;ENSP00000437943:R139H	ENSP00000350718:R217H	R	+	2	0	TMCC2	203477698	1.000000	0.71417	0.968000	0.41197	0.977000	0.68977	6.469000	0.73555	1.120000	0.41904	0.462000	0.41574	CGT	TMCC2	-	NULL	ENSG00000133069		0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	-	0	21	0	G	NM_014858		205211075	1	tier1	-	no_errors	ENST00000358024	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.997	A	A	205211075	G	A	205211075	3	1	87	1	0	0	0	0	1	0	0	0	16040	1145	40	1	656	1	TMCC2	1	205211075	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	271225	205211075	44039546	179	23303											
MAPKAPK2	9261	genome.wustl.edu	37	chr1	206905942	206905942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagatgaccagtgccttggCcacaatgcgcgttgactacg	9	8	13	11	3	0	3	0	2	0	1	0	4	0	3	3	2	3	1	3	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:206905942C>T	ENST00000367103.3	+	10	1275	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	MAPKAPK2_ENST00000294981.4_3'UTR	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	361	Autoinhibitory helix. {ECO:0000250}.		A -> S (in dbSNP:rs55894011). {ECO:0000269|PubMed:17344846}.		3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AGTGCCTTGGCCACAATGCGC	0.552																																																	0													85	83	83					1																	206905942		2203	4300	6503	SO:0001583	missense	0			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.1082C>T	1.37:g.206905942C>T	ENSP00000356070:p.Ala361Val		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A361V	ENST00000367103.3	37	c.1082	CCDS31001.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.651259	0.96714	.	.	ENSG00000162889	ENST00000367103	T	0.49720	0.77	5.27	5.27	0.74061	Protein kinase-like domain (1);	.	.	.	.	T	0.64527	0.2606	M	0.80982	2.52	0.80722	D	1	D	0.67145	0.996	P	0.53146	0.719	T	0.71196	-0.4664	9	0.72032	D	0.01	-24.8105	17.8567	0.88765	0.0:1.0:0.0:0.0	.	361	P49137	MAPK2_HUMAN	V	361	ENSP00000356070:A361V	ENSP00000356070:A361V	A	+	2	0	MAPKAPK2	204972565	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.730000	0.84881	2.465000	0.83290	0.655000	0.94253	GCC	MAPKAPK2	-	superfamily_Kinase-like_dom	ENSG00000162889		0.552	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	-	0	65	0	C	NM_004759		206905942	1	tier1	-	no_errors	ENST00000367103	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	206905942	C	T	206905942	3	4	87	1	0	0	0	0	1	0	0	0	9327	739	26	3	1178	3	MAPKAPK2	1	206905942	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1694867	206905942	42344679	180	23304											
PIGR	5284	genome.wustl.edu	37	chr1	207112680	207112680	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacctctagctccctGccggcaccagtacttccggg	6	7	10	18	2	1	0	0	0	1	0	3	0	3	0	6	2	4	4	6	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:207112680G>A	ENST00000356495.4	-	3	355	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	58	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTAGCTCCCTGCCGGCACCAG	0.582																																																	0													77	72	74					1																	207112680		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"Immunoglobulin superfamily / V-set domain containing"	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.172C>T	1.37:g.207112680G>A	ENSP00000348888:p.Gln58*		Q68D81|Q8IZY7	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q58*	ENST00000356495.4	37	c.172	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.423186	0.96111	.	.	ENSG00000162896	ENST00000356495	.	.	.	5.45	3.55	0.40652	.	0.546372	0.17726	N	0.164050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.8027	12.7413	0.57255	0.0:0.2268:0.655:0.1181	.	.	.	.	X	58	.	ENSP00000348888:Q58X	Q	-	1	0	PIGR	205179303	0.001000	0.12720	0.958000	0.39756	0.741000	0.42261	0.502000	0.22594	0.349000	0.23975	-0.808000	0.03180	CAG	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000162896		0.582	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	-	0	41	0	G	NM_002644		207112680	-1	tier1	-	no_errors	ENST00000356495	ensembl	human	known	74_37	nonsense	39.53	26	17	SNP	0.203	A	A	207112680	G	A	207112680	4	1	87	1	0	0	0	0	0	1	0	0	11936	1328	46	3	2158	3	PIGR	1	207112680	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	206738	207112680	42137941	181	23305											
CD34	947	genome.wustl.edu	37	chr1	208062085	208062085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggaaatagccagtgatgCccaagacagccagcagggct	13	5	12	11	0	1	2	1	1	0	1	1	3	1	3	3	2	4	2	3	2	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:208062085C>T	ENST00000310833.7	-	7	1235	c.914G>A	c.(913-915)gGc>gAc	p.G305D	CD34_ENST00000356522.4_Missense_Mutation_p.G305D|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Missense_Mutation_p.G170D|CD34_ENST00000367036.3_Missense_Mutation_p.G147D	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	305					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GCCAGTGATGCCCAAGACAGC	0.537																																																	0													194	210	204					1																	208062085		2203	4300	6503	SO:0001583	missense	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.914G>A	1.37:g.208062085C>T	ENSP00000310036:p.Gly305Asp		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.G305D	ENST00000310833.7	37	c.914	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427109	0.62733	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.54	3.62	0.41486	.	0.414945	0.25461	N	0.030518	T	0.45617	0.1351	M	0.67953	2.075	0.39910	D	0.974019	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.987;0.996;0.989;0.987	T	0.43940	-0.9360	10	0.51188	T	0.08	-6.1373	10.0574	0.42252	0.2009:0.7991:0.0:0.0	.	170;305;305;147	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	D	305;305;147;170;275	ENSP00000310036:G305D;ENSP00000348916:G305D;ENSP00000356003:G147D;ENSP00000442874:G170D	ENSP00000310036:G305D	G	-	2	0	CD34	206128708	0.979000	0.34478	0.864000	0.33941	0.667000	0.39255	2.526000	0.45607	1.257000	0.44085	0.650000	0.86243	GGC	CD34	-	pfam_CD34/Podocalyxin	ENSG00000174059		0.537	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	-	0	51	0	C	NM_001773		208062085	-1	tier1	-	no_errors	ENST00000310833	ensembl	human	known	74_37	missense	12.77	41	6	SNP	0.923	T	T	208062085	C	T	208062085	3	4	87	1	0	0	0	0	1	0	0	0	3013	739	26	3	270	3	CD34	1	208062085	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	949405	208062085	41188536	182	23306											
C1orf107	27042	genome.wustl.edu	37	chr1	210016856	210016856	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagtcatgtctcacacGctcatctatatcccctccta	9	12	5	15	1	4	0	3	0	2	0	7	1	6	0	3	0	1	2	3	0	3	3	rs138167313		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:210016856G>A	ENST00000491415.2	+	11	1899	c.1842G>A	c.(1840-1842)acG>acA	p.T614T		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	614					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TGTCTCACACGCTCATCTATA	0.413																																																	0								G		0,4406		0,0,2203	129	110	116		1842	-11.6	0	1	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	DIEXF	NM_014388.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		614/757	210016856	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 107"	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1842G>A	1.37:g.210016856G>A			O75992|Q4VY00|Q63HL9	Silent	SNP	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.T614	ENST00000491415.2	37	c.1842	CCDS1493.1	1																																																																																			DIEXF	-	pfam_Digest_organ_expansion_fac-prd	ENSG00000117597		0.413	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	-	0	27	0	G	NM_014388		210016856	1	tier1	rs138167313	no_errors	ENST00000491415	ensembl	human	known	74_37	silent	28.00	18	7	SNP	0.020	A	A	210016856	G	A	210016856	2	1	87	1	0	0	0	0	0	0	0	1	1988	1074	38	1		1	C1orf107	1	210016856	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1954771	210016856	39233765	183	23307											
KCNH1	3756	genome.wustl.edu	37	chr1	211192294	211192294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtcttcaggtagttcatgCggataagtttggggtcagaa	10	12	13	6	2	4	1	3	0	1	1	4	2	4	2	0	4	1	3	0	4	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:211192294C>T	ENST00000271751.4	-	6	890	c.863G>A	c.(862-864)cGc>cAc	p.R288H	KCNH1_ENST00000367007.4_Missense_Mutation_p.R288H			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GTAGTTCATGCGGATAAGTTT	0.448																																																	0													231	209	216					1																	211192294		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.863G>A	1.37:g.211192294C>T	ENSP00000271751:p.Arg288His		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R288H	ENST00000271751.4	37	c.863	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649341	0.87958	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.97831	-4.56;-4.56	5.15	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99777	1.1026	10	0.66056	D	0.02	.	17.6077	0.88044	0.0:1.0:0.0:0.0	.	288;288	Q14CL3;O95259	.;KCNH1_HUMAN	H	288	ENSP00000271751:R288H;ENSP00000355974:R288H	ENSP00000271751:R288H	R	-	2	0	KCNH1	209258917	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.474000	0.81024	2.402000	0.81655	0.462000	0.41574	CGC	KCNH1	-	pfam_Ion_trans_dom	ENSG00000143473		0.448	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1		0	58	0	C	NM_002238		211192294	-1			no_errors	ENST00000271751	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	211192294	C	T	211192294	3	4	87	1	0	0	0	0	1	0	0	0	8058	768	27	1	2130	1	KCNH1	1	211192294	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1175438	211192294	38058327	184	23308											
FAM71A	149647	genome.wustl.edu	37	chr1	212799737	212799737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtccaggacctctcaCaaatctgggaggagcttatg	12	8	12	9	0	2	0	1	0	2	0	4	4	3	4	2	4	1	1	2	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:212799737C>T	ENST00000294829.3	+	1	1949	c.1518C>T	c.(1516-1518)caC>caT	p.H506H	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	506						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGACCTCTCACAAATCTGGGA	0.557																																																	0													78	67	71					1																	212799737		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1518C>T	1.37:g.212799737C>T			Q5VTZ1	Silent	SNP	pfam_DUF3699	p.H506	ENST00000294829.3	37	c.1518	CCDS1507.1	1																																																																																			FAM71A	-	NULL	ENSG00000162771		0.557	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	-	0	45	0	C	NM_153606		212799737	1	tier1	-	no_errors	ENST00000294829	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.362	T	T	212799737	C	T	212799737	2	4	87	1	0	0	0	0	0	0	0	1	5629	477	17	3		3	FAM71A	1	212799737	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1607443	212799737	36450884	185	23309											
PROX1	5629	genome.wustl.edu	37	chr1	214169975	214169975	+	Frame_Shift_Del	DEL	T	T	-																															cggtagggacagcatctgcaTtttttgctaaggcaagagca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:214169975delT	ENST00000366958.4	+	2	705	c.97delT	c.(97-99)tttfs	p.F34fs	PROX1_ENST00000261454.4_Frame_Shift_Del_p.F34fs|PROX1_ENST00000435016.1_Frame_Shift_Del_p.F34fs|PROX1_ENST00000498508.2_Frame_Shift_Del_p.F34fs	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	34					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCATCTGCATTTTTTGCTAA	0.483																																																	0													130	113	119					1																	214169975		2203	4300	6503	SO:0001589	frameshift_variant	0			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"Homeoboxes / PROS class"	9459	protein-coding gene	gene with protein product		601546	"prospero-related homeobox 1"			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.97delT	1.37:g.214169975delT	ENSP00000355925:p.Phe34fs		A6NK29|A8K2B1|Q5SW76|Q8TB91	Frame_Shift_Del	DEL	pfam_Homeo_prospero_dom,superfamily_Homeodomain-like	p.F34fs	ENST00000366958.4	37	c.97	CCDS31021.1	1																																																																																			PROX1	-	NULL	ENSG00000117707		0.483	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6		0	67	0	T	NM_002763		214169975	1	tier1		no_errors	ENST00000261454	ensembl	human	known	74_37	frame_shift_del	13.64	57	9	DEL	1.000	-	-	214169975	T	-	214169975	7	5	87	1	0	1	0	1	0	0	0	0	12602	1493	52	0	99	0	PROX1	1	214169975	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	1370238	214169975	35080646	186	23310											
USH2A	7399	genome.wustl.edu	37	chr1	216373117	216373117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccgctagtacacgcCtgtacagaaaaatcgtactt	12	8	7	14	3	0	1	0	0	0	1	1	1	0	1	3	0	4	4	3	0	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:216373117C>A	ENST00000307340.3	-	17	4049	c.3663G>T	c.(3661-3663)caG>caT	p.Q1221H	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.Q1221H|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1221H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1221	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGTACACGCCTGTACAGAAA	0.502										HNSCC(13;0.011)																																							0													84	84	84					1																	216373117		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3663G>T	1.37:g.216373117C>A	ENSP00000305941:p.Gln1221His		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.Q1221H	ENST00000307340.3	37	c.3663	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512306	0.64522	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.59364	0.27;0.27;0.27	5.87	4.97	0.65823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42420	D	0.000705	T	0.69187	0.3083	M	0.76838	2.35	0.41952	D	0.99066	D;D	0.61080	0.989;0.989	P;P	0.59643	0.861;0.832	T	0.71998	-0.4423	10	0.52906	T	0.07	.	7.4982	0.27503	0.0:0.7285:0.0:0.2715	.	1221;1221	O75445-2;O75445	.;USH2A_HUMAN	H	1221	ENSP00000305941:Q1221H;ENSP00000355910:Q1221H;ENSP00000355909:Q1221H	ENSP00000305941:Q1221H	Q	-	3	2	USH2A	214439740	1.000000	0.71417	0.994000	0.49952	0.719000	0.41307	2.373000	0.44266	1.633000	0.50488	-0.137000	0.14449	CAG	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.502	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	-	0	53	0	C	NM_007123		216373117	-1	tier1	-	no_errors	ENST00000366943	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A	A	216373117	C	A	216373117	3	1	87	1	0	0	0	0	1	0	0	0	17085	680	24	3	12183	3	USH2A	1	216373117	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2203142	216373117	32877504	187	23311											
SLC30A10	55532	genome.wustl.edu	37	chr1	220088998	220088998	+	Frame_Shift_Del	DEL	G	G	-																															tgagccagaggcagtgccccGgggggacaacacagctgctt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:220088998delG	ENST00000366926.3	-	4	1412	c.1251delC	c.(1249-1251)cccfs	p.P417fs	SLC30A10_ENST00000536446.1_Frame_Shift_Del_p.P172fs|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	417					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGTGCCCCGGGGGGACAAC	0.562																																					Colon(76;360 1614 43677 51136)												0													87	85	86					1																	220088998		2203	4300	6503	SO:0001589	frameshift_variant	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"Solute carriers"	25355	protein-coding gene	gene with protein product	"zinc transporter 8"	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1251delC	1.37:g.220088998delG	ENSP00000355893:p.Pro417fs		Q49AL9|Q9NPW0	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A419fs	ENST00000366926.3	37	c.1251	CCDS31026.1	1																																																																																			SLC30A10	-	NULL	ENSG00000196660		0.562	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1		0	41	0	G	NM_018713		220088998	-1	tier1		no_errors	ENST00000366926	ensembl	human	known	74_37	frame_shift_del	16.67	35	7	DEL	0.000	-	-	220088998	G	-	220088998	7	5	87	1	0	1	0	1	0	0	0	0	14599	1103	39	0	210	0	SLC30A10	1	220088998	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	3715881	220088998	29161623	188	23312											
EPHX1	2052	genome.wustl.edu	37	chr1	226026384	226026384	+	Frame_Shift_Del	DEL	C	C	-																															tccacttcatccacgtgaagCccccccagctgcccgcaggc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:226026384delC	ENST00000366837.4	+	4	590	c.394delC	c.(394-396)cccfs	p.P133fs	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Frame_Shift_Del_p.P133fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	133					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CCACGTGAAGCCCCCCCAGCT	0.627																																																	0													79	90	87					1																	226026384		2203	4300	6503	SO:0001589	frameshift_variant	0			J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.394delC	1.37:g.226026384delC	ENSP00000355802:p.Pro133fs		B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Frame_Shift_Del	DEL	pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like	p.Q134fs	ENST00000366837.4	37	c.394	CCDS1547.1	1																																																																																			EPHX1	-	pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase	ENSG00000143819		0.627	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX1	HGNC	protein_coding	OTTHUMT00000092064.1		0	16	0	C	NM_000120		226026384	1	tier1		no_errors	ENST00000272167	ensembl	human	known	74_37	frame_shift_del	26.67	22	8	DEL	1.000	-	-	226026384	C	-	226026384	7	5	87	1	0	1	0	1	0	0	0	0	5195	739	26	0	404	0	EPHX1	1	226026384	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	5937386	226026384	23224237	189	23313											
TMEM63A	9725	genome.wustl.edu	37	chr1	226040372	226040372	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccactcaccaaatggCgcgatgatgggacaagtgat	12	6	13	10	2	1	2	1	2	0	0	1	4	1	3	2	3	0	0	2	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:226040372C>T	ENST00000366835.3	-	20	2166	c.1896G>A	c.(1894-1896)gcG>gcA	p.A632A		NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	632					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCAAATGGCGCGATGATGG	0.552																																																	0													139	97	112					1																	226040372		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"KIAA0792"	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1896G>A	1.37:g.226040372C>T			Q53GI7|Q5TE96|Q8N2U2	Silent	SNP	pfam_DUF221	p.A632	ENST00000366835.3	37	c.1896	CCDS31042.1	1																																																																																			TMEM63A	-	pfam_DUF221	ENSG00000196187		0.552	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	-	0	40	0	C	NM_014698		226040372	-1	tier1	-	no_errors	ENST00000366835	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.912	T	T	226040372	C	T	226040372	2	4	87	1	0	0	0	0	0	0	0	1	16237	755	27	1		1	TMEM63A	1	226040372	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	13988	226040372	23210249	190	23314											
PSEN2	5664	genome.wustl.edu	37	chr1	227078994	227078994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctgccatggtgtggaCggttggcatggcgaagctgg	6	8	17	10	2	0	0	0	0	0	0	0	2	0	1	2	6	3	4	2	6	1	1	rs144277432	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:227078994C>T	ENST00000366783.3	+	10	1338	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PSEN2_ENST00000422240.2_Missense_Mutation_p.T301M|PSEN2_ENST00000340188.4_Missense_Mutation_p.T268M|PSEN2_ENST00000366782.1_Missense_Mutation_p.T334M|PSEN2_ENST00000471728.1_3'UTR|PSEN2_ENST00000391872.2_Missense_Mutation_p.T334M|PSEN2_ENST00000472139.2_Missense_Mutation_p.T157M	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	301					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				ATGGTGTGGACGGTTGGCATG	0.632																																																	0			GRCh37	CM045430	PSEN2	M	rs144277432	C	MET/THR,MET/THR	0,4406		0,0,2203	57	50	52		902,902	3.4	0.6	1	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PSEN2	NM_000447.2,NM_012486.2	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	301/449,301/448	227078994	2,13004	2203	4300	6503	SO:0001583	missense	0			BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"Alzheimer disease 4"	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.902C>T	1.37:g.227078994C>T	ENSP00000355747:p.Thr301Met		A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A	p.T334M	ENST00000366783.3	37	c.1001	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.691166	0.30052	0.0	2.33E-4	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000422240;ENST00000460775;ENST00000366782;ENST00000391872;ENST00000472139	D;D;D;D;D;D;D	0.99709	-6.05;-6.48;-6.05;-6.05;-6.05;-6.05;-6.05	5.25	3.38	0.38709	.	0.381500	0.31177	N	0.008103	D	0.97663	0.9234	N	0.21194	0.64	0.36334	D	0.859047	P;P	0.37398	0.483;0.593	B;B	0.29663	0.105;0.067	D	0.98470	1.0600	10	0.38643	T	0.18	.	9.9972	0.41907	0.0:0.8357:0.0:0.1643	.	301;301	A8K8D4;P49810	.;PSN2_HUMAN	M	301;268;301;128;334;334;157	ENSP00000355747:T301M;ENSP00000339860:T268M;ENSP00000403737:T301M;ENSP00000427912:T128M;ENSP00000355746:T334M;ENSP00000375745:T334M;ENSP00000427806:T157M	ENSP00000339860:T268M	T	+	2	0	PSEN2	225145617	0.945000	0.32115	0.634000	0.29324	0.959000	0.62525	1.893000	0.39758	0.600000	0.29862	0.655000	0.94253	ACG	PSEN2	-	pfam_Peptidase_A22A,smart_Preselin/SPP	ENSG00000143801		0.632	PSEN2-001	KNOWN	basic|CCDS	protein_coding	PSEN2	HGNC	protein_coding	OTTHUMT00000091539.1	-	0	47	0	C	NM_000447		227078994	1	tier1	rs144277432	no_errors	ENST00000391872	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.711	T	T	227078994	C	T	227078994	3	4	87	1	0	0	0	0	1	0	0	0	12693	536	19	1	928	1	PSEN2	1	227078994	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1038622	227078994	22171627	191	23315											
WNT9A	7483	genome.wustl.edu	37	chr1	228109316	228109316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcagggccttgtcaccAcccggctctgtgtgttatgg	5	11	13	12	1	2	0	1	0	1	0	2	0	2	0	3	4	0	3	3	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:228109316A>G	ENST00000272164.5	-	4	1011	c.1001T>C	c.(1000-1002)gTg>gCg	p.V334A		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	334					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CCTTGTCACCACCCGGCTCTG	0.647																																																	0													50	45	46					1																	228109316		2203	4300	6503	SO:0001583	missense	0			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.1001T>C	1.37:g.228109316A>G	ENSP00000272164:p.Val334Ala		A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a	p.V334A	ENST00000272164.5	37	c.1001	CCDS31045.1	1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.873135	0.51695	.	.	ENSG00000143816	ENST00000272164	T	0.75704	-0.96	4.64	3.5	0.40072	.	0.145260	0.46145	N	0.000302	T	0.66366	0.2782	L	0.46157	1.445	0.40413	D	0.979769	P	0.36183	0.542	B	0.42959	0.403	T	0.58289	-0.7662	10	0.09084	T	0.74	.	8.0089	0.30342	0.8947:0.0:0.1053:0.0	.	334	O14904	WNT9A_HUMAN	A	334	ENSP00000272164:V334A	ENSP00000272164:V334A	V	-	2	0	WNT9A	226175939	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	2.421000	0.44688	0.840000	0.34995	0.397000	0.26171	GTG	WNT9A	-	pfam_Wnt,smart_Wnt	ENSG00000143816		0.647	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9A	HGNC	protein_coding	OTTHUMT00000091646.1	-	0	93	0	A	NM_003395		228109316	-1	tier1	-	no_errors	ENST00000272164	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	G	G	228109316	A	G	228109316	3	3	87	1	0	0	0	0	1	0	0	0	17447	159	6	4	100	4	WNT9A	1	228109316	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1030322	228109316	21141305	192	23316											
OBSCN	84033	genome.wustl.edu	37	chr1	228434261	228434261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttgccaaggagcagttgGtgcataatgaggtgcggact	9	11	15	6	1	0	1	0	1	0	0	0	3	0	3	1	4	4	4	1	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:228434261G>A	ENST00000422127.1	+	13	3834	c.3790G>A	c.(3790-3792)Gtg>Atg	p.V1264M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V1264M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V1356M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1264	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGTTGGTGCATAATGA	0.587																																																	0													96	96	96					1																	228434261		2064	4189	6253	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3790G>A	1.37:g.228434261G>A	ENSP00000409493:p.Val1264Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V1264M	ENST00000422127.1	37	c.3790	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	5.136	0.210738	0.09757	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.65549	0.25;-0.16	4.84	1.25	0.21368	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.627943	0.14919	N	0.290750	T	0.69851	0.3157	M	0.71581	2.175	0.09310	N	0.999999	P;D	0.69078	0.697;0.997	B;P	0.59643	0.318;0.861	T	0.57854	-0.7739	10	0.46703	T	0.11	.	7.5697	0.27900	0.0771:0.1651:0.6468:0.111	.	1264;1264	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	1264	ENSP00000284548:V1264M;ENSP00000409493:V1264M	ENSP00000284548:V1264M	V	+	1	0	OBSCN	226500884	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.598000	0.24074	0.410000	0.25675	0.563000	0.77884	GTG	OBSCN	-	pfscan_Ig-like_dom	ENSG00000154358		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	64	0	G	NM_052843		228434261	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.000	A	A	228434261	G	A	228434261	3	1	87	1	0	0	0	0	1	0	0	0	10851	1261	44	3	3836	3	OBSCN	1	228434261	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	324945	228434261	20816360	193	23317											
ABCB10	23456	genome.wustl.edu	37	chr1	229683352	229683352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgatgagaggcggttaAtcaattctcctgtgcgagtc	8	13	12	8	2	3	2	1	2	2	1	5	4	3	2	1	2	1	1	1	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:229683352A>G	ENST00000344517.4	-	3	857	c.815T>C	c.(814-816)aTt>aCt	p.I272T	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	272	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.I272N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGGCGGTTAATCAATTCTCC	0.537																																																	1	Substitution - Missense(1)	endometrium(1)											58	64	62					1																	229683352		2203	4300	6503	SO:0001583	missense	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"ATP binding cassette transporters / subfamily B"	41	protein-coding gene	gene with protein product	"ATP-binding cassette sub-family B member 10, mitochondrial", "ATP-binding cassette transporter 10", "ABC transporter 10 protein", "mitochondrial ATP-binding cassette 2"	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.815T>C	1.37:g.229683352A>G	ENSP00000355637:p.Ile272Thr		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.I272T	ENST00000344517.4	37	c.815	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532763	0.85812	.	.	ENSG00000135776	ENST00000344517	D	0.88124	-2.34	5.37	5.37	0.77165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.096992	0.64402	D	0.000001	D	0.88280	0.6394	L	0.47078	1.49	0.80722	D	1	P	0.36974	0.576	P	0.47705	0.555	D	0.87955	0.2726	10	0.46703	T	0.11	-8.3315	15.6601	0.77178	1.0:0.0:0.0:0.0	.	272	Q9NRK6	ABCBA_HUMAN	T	272	ENSP00000355637:I272T	ENSP00000355637:I272T	I	-	2	0	ABCB10	227749975	1.000000	0.71417	0.635000	0.29338	0.992000	0.81027	8.930000	0.92872	2.161000	0.67846	0.459000	0.35465	ATT	ABCB10	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000135776		0.537	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1		0	73	0	A	NM_012089		229683352	-1			no_errors	ENST00000344517	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.998	G	G	229683352	A	G	229683352	3	3	87	1	0	0	0	0	1	0	0	0	41	101	4	4	1445	4	ABCB10	1	229683352	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1249091	229683352	19567269	194	23318											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232607232	232607232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccaggctcctggaagaCgatggtgacgatgtcatttc	8	10	12	11	2	1	2	1	1	0	1	3	5	2	3	3	3	1	1	3	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:232607232C>T	ENST00000366630.1	-	7	2486	c.2128G>A	c.(2128-2130)Gtc>Atc	p.V710I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V710I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	710	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCCTGGAAGACGATGGTGACG	0.398																																																	0													137	142	141					1																	232607232		2126	4274	6400	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2128G>A	1.37:g.232607232C>T	ENSP00000355589:p.Val710Ile		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.V710I	ENST00000366630.1	37	c.2128	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810396	0.32053	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.93488	-3.23;-3.23	5.99	5.07	0.68467	Rap/ran-GAP (2);	0.063724	0.64402	N	0.000007	D	0.85852	0.5793	N	0.13043	0.29	0.43003	D	0.994524	B	0.14438	0.01	B	0.20577	0.03	T	0.80480	-0.1364	10	0.21014	T	0.42	-33.1823	11.6445	0.51253	0.0:0.8627:0.0:0.1373	.	710	Q9P2F8	SI1L2_HUMAN	I	710	ENSP00000355589:V710I;ENSP00000262861:V710I	ENSP00000262861:V710I	V	-	1	0	SIPA1L2	230673855	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.578000	0.46051	1.518000	0.48934	0.655000	0.94253	GTC	SIPA1L2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000116991		0.398	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0	67	0	C	XM_045839		232607232	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	33.33	42	21	SNP	1.000	T	T	232607232	C	T	232607232	3	4	87	1	0	0	0	0	1	0	0	0	14375	536	19	1	3104	1	SIPA1L2	1	232607232	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2923880	232607232	16643389	195	23319											
PCNXL2	80003	genome.wustl.edu	37	chr1	233388513	233388513	+	Frame_Shift_Del	DEL	T	T	-																															cattttccaggatttcctccTttttttcctgggaacagtta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:233388513delT	ENST00000258229.9	-	6	2090	c.1856delA	c.(1855-1857)aagfs	p.K619fs	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	619						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATTTCCTCCTTTTTTTCCTG	0.373																																																	0													117	105	109					1																	233388513		1829	4083	5912	SO:0001589	frameshift_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1856delA	1.37:g.233388513delT	ENSP00000258229:p.Lys619fs		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Frame_Shift_Del	DEL	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.K619fs	ENST00000258229.9	37	c.1856	CCDS44335.1	1																																																																																			PCNXL2	-	NULL	ENSG00000135749		0.373	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3		0	39	0	T	NM_014801		233388513	-1	tier1		no_errors	ENST00000258229	ensembl	human	known	74_37	frame_shift_del	20.00	36	9	DEL	1.000	-	-	233388513	T	-	233388513	7	5	87	1	0	1	0	1	0	0	0	0	11631	1609	56	0	4673	0	PCNXL2	1	233388513	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	781281	233388513	15862108	196	23320											
ARID4B	51742	genome.wustl.edu	37	chr1	235345232	235345233	+	Frame_Shift_Ins	INS	-	-	T																															tctgtcattgacctctactgINSttttttcttcaatgggttta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:235345232_235345233insT	ENST00000264183.3	-	20	3498_3499	c.3001_3002insA	c.(3001-3003)acafs	p.T1001fs	ARID4B_ENST00000366603.2_Frame_Shift_Ins_p.T1001fs|ARID4B_ENST00000349213.3_Frame_Shift_Ins_p.T915fs|ARID4B_ENST00000494543.1_5'Flank	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1001				T -> Q (in Ref. 3; AAF23433). {ECO:0000305}.	histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GACCTCTACTGTTTTTTCTTCA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3002dupA	1.37:g.235345238_235345238dupT	ENSP00000264183:p.Thr1001fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Ins	INS	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.T1001fs	ENST00000264183.3	37	c.3002_3001	CCDS31061.1	1																																																																																			ARID4B	-	NULL	ENSG00000054267		0.436	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3		0	101	0	-	NM_016374		235345233	-1	tier1		no_errors	ENST00000264183	ensembl	human	known	74_37	frame_shift_ins	28.87	69	28	INS	0.001:0.000	T	T	235345233	-	T	235345232	7	5	87	1	0	1	1	0	0	0	0	0	920	1377	48	0	956	0	ARID4B	1	235345232	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1956719	235345232	13905389	197	23321											
MTR	4548	genome.wustl.edu	37	chr1	236972027	236972027	+	Silent	SNP	T	T	G																															taccggatgaacatgtgctcTgcaggagtggccagaaaagc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:236972027T>G	ENST00000366577.5	+	4	757	c.363T>G	c.(361-363)tcT>tcG	p.S121S	MTR_ENST00000535889.1_Silent_p.S121S|MTR_ENST00000418145.2_Silent_p.S177S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	121	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACATGTGCTCTGCAGGAGTGG	0.458																																																	0													172	163	166					1																	236972027		2203	4300	6503	SO:0001819	synonymous_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.363T>G	1.37:g.236972027T>G			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.S121	ENST00000366577.5	37	c.363	CCDS1614.1	1																																																																																			MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH	ENSG00000116984		0.458	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0	49	0	T	NM_000254		236972027	1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	silent	11.32	47	6	SNP	0.994	G	G	236972027	T	G	236972027	2	3	87	1	0	0	0	0	0	0	0	1	9996	1567	55	4		4	MTR	1	236972027	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1626795	236972027	12278594	198	23322	91	2									
MTR	4548	genome.wustl.edu	37	chr1	236972037	236972037	+	Missense_Mutation	SNP	G	G	A																															acatgtgctctgcaggagtgGccagaaaagctgccgaggag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:236972037G>A	ENST00000366577.5	+	4	767	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	MTR_ENST00000535889.1_Missense_Mutation_p.A125T|MTR_ENST00000418145.2_Missense_Mutation_p.A181T	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	125	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGCAGGAGTGGCCAGAAAAGC	0.458																																																	0													176	167	170					1																	236972037		2203	4300	6503	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.373G>A	1.37:g.236972037G>A	ENSP00000355536:p.Ala125Thr		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.A125T	ENST00000366577.5	37	c.373	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650027	0.87958	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000418145;ENST00000535889	T;T;T	0.26373	1.74;1.74;1.74	5.71	5.71	0.89125	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	H	0.96916	3.905	0.50467	D	0.999877	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.99;0.99;0.99	T	0.78775	-0.2072	10	0.87932	D	0	-17.0517	18.4217	0.90592	0.0:0.0:1.0:0.0	.	125;125;125	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	T	125;125;181;125	ENSP00000355536:A125T;ENSP00000402255:A181T;ENSP00000441845:A125T	ENSP00000355536:A125T	A	+	1	0	MTR	235038660	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.161000	0.77505	2.687000	0.91594	0.655000	0.94253	GCC	MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH	ENSG00000116984		0.458	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0	48	0	G	NM_000254		236972037	1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	12.00	44	6	SNP	1.000	A	A	236972037	G	A	236972037	3	1	87	1	0	0	0	0	1	0	0	0	9996	1203	42	3	387	3	MTR	1	236972037	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10	236972037	12278584	199	23323	91	2									
MTR	4548	genome.wustl.edu	37	chr1	237058730	237058730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagtgagcagctggacGtcgcagacctgcgcaggctg	7	6	17	11	3	0	2	0	1	0	1	1	3	0	3	1	3	3	6	1	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:237058730G>A	ENST00000366577.5	+	31	3872	c.3478G>A	c.(3478-3480)Gtc>Atc	p.V1160I	MTR_ENST00000535889.1_Missense_Mutation_p.V1109I|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1160	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCAGCTGGACGTCGCAGACCT	0.627																																																	0													34	26	29					1																	237058730		2203	4298	6501	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3478G>A	1.37:g.237058730G>A	ENSP00000355536:p.Val1160Ile		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.V1160I	ENST00000366577.5	37	c.3478	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078493	0.36662	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.75938	-0.98;-0.98;-0.98	5.57	-2.11	0.07187	Vitamin B12-dependent methionine synthase, activation domain (4);	0.427134	0.24820	N	0.035327	T	0.46190	0.1380	N	0.12502	0.225	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.25047	-1.0143	10	0.66056	D	0.02	-0.4826	0.6442	0.00815	0.3102:0.2009:0.3:0.1889	.	1160;1109;1160	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	I	1014;1160;1109;714	ENSP00000355536:V1160I;ENSP00000441845:V1109I;ENSP00000355535:V714I	ENSP00000355535:V714I	V	+	1	0	MTR	235125353	0.000000	0.05858	0.000000	0.03702	0.923000	0.55619	0.067000	0.14510	-0.746000	0.04766	-0.373000	0.07131	GTC	MTR	-	pfam_VitB12-dep_Met_synth_activ_dom,superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH	ENSG00000116984		0.627	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	-	0	41	0	G	NM_000254		237058730	1	tier1	-	no_errors	ENST00000366577	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	A	A	237058730	G	A	237058730	3	1	87	1	0	0	0	0	1	0	0	0	9996	1145	40	1	3600	1	MTR	1	237058730	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	86693	237058730	12191891	200	23324											
MTR	4548	genome.wustl.edu	37	chr1	237060946	237060948	+	3'UTR	DEL	TTT	TTT	-																															gggatatgatacagactaacTttttttttttttttgccttt																								rs67705775		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:237060946_237060948delTTT	ENST00000366577.5	+	0	4194_4196				MTR_ENST00000535889.1_3'UTR|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACAGACTAACTTTTTTTTTTTTT	0.369																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.*4TTT>-	1.37:g.237060955_237060957delTTT			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	RNA	DEL	-	NULL	ENST00000366577.5	37	NULL	CCDS1614.1	1																																																																																			MTR	-	-	ENSG00000116984		0.369	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0	54	0	TTT	NM_000254		237060948	1	tier1		no_errors	ENST00000470570	ensembl	human	known	74_37	rna	18.60	35	8	DEL	0.000:0.001:0.006	-	-	237060948	TTT	-	237060946	6	5	87	0	1	1	0	1	0	0	0	0	9996	1624	56	0		0	MTR	1	237060946	3'UTR	DEL	TTT	TCGA-L5-A8NM-01A-11D-A37C-09	2216	237060946	12189675	201	23325											
FMN2	56776	genome.wustl.edu	37	chr1	240256444	240256444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgaggggctggggacacGgatgaggagggtgaggagga	9	4	24	4	2	0	2	0	2	0	0	0	8	0	7	0	9	1	1	0	9	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:240256444G>A	ENST00000319653.9	+	1	1265	c.1035G>A	c.(1033-1035)acG>acA	p.T345T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	345					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTGGGGACACGGATGAGGAGG	0.731																																																	0													5	8	7					1																	240256444		1679	3555	5234	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1035G>A	1.37:g.240256444G>A			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.T345	ENST00000319653.9	37	c.1035	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	21	0	G	XM_371352		240256444	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	23.53	13	4	SNP	0.003	A	A	240256444	G	A	240256444	2	1	87	1	0	0	0	0	0	0	0	1	5972	1103	39	1		1	FMN2	1	240256444	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3195498	240256444	8994177	202	23326											
CEP170	9859	genome.wustl.edu	37	chr1	243354507	243354507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagacttcttggacttGtggcgctgatcagaagtaaa	12	10	13	6	1	2	4	1	1	1	3	2	6	2	5	0	3	0	2	0	3	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:243354507G>T	ENST00000366542.1	-	8	972	c.921C>A	c.(919-921)caC>caA	p.H307Q	CEP170_ENST00000366544.1_Missense_Mutation_p.H307Q|CEP170_ENST00000366543.1_Missense_Mutation_p.H307Q	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	307						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCTTGGACTTGTGGCGCTGAT	0.453																																																	0													45	37	40					1																	243354507		1803	4035	5838	SO:0001583	missense	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.921C>A	1.37:g.243354507G>T	ENSP00000355500:p.His307Gln		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.H307Q	ENST00000366542.1	37	c.921	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.780418|1.780418	0.31502|0.31502	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.25912|.	1.77;1.77;1.77|.	4.91|4.91	3.98|3.98	0.46160|0.46160	.|.	0.181084|.	0.49305|.	D|.	0.000158|.	T|T	0.39253|0.39253	0.1071|0.1071	N|N	0.16478|0.16478	0.41|0.41	0.80722|0.80722	D|D	1|1	B;B;B|.	0.25441|.	0.119;0.038;0.126|.	B;B;B|.	0.31191|.	0.125;0.078;0.021|.	T|T	0.14200|0.14200	-1.0481|-1.0481	10|5	0.25106|.	T|.	0.35|.	-7.553|-7.553	9.2858|9.2858	0.37755|0.37755	0.078:0.1428:0.7792:0.0|0.078:0.1428:0.7792:0.0	.|.	307;307;307|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	Q|K	307;307;307;205|209	ENSP00000355500:H307Q;ENSP00000355502:H307Q;ENSP00000355501:H307Q|.	ENSP00000355500:H307Q|.	H|T	-|-	3|2	2|0	CEP170|CEP170	241421130|241421130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	3.543000|3.543000	0.53633|0.53633	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	CAC|ACA	CEP170	-	NULL	ENSG00000143702		0.453	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	-	0	71	0	G	NM_014812		243354507	-1	tier1	-	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	T	T	243354507	G	T	243354507	3	4	87	1	0	0	0	0	1	0	0	0	3257	1368	48	3	3915	3	CEP170	1	243354507	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3098063	243354507	5896114	203	23327											
C1orf101	257044	genome.wustl.edu	37	chr1	244735907	244735908	+	Frame_Shift_Ins	INS	-	-	T																															tcataacaatgttgctcatgINSttttttactttttggacaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:244735907_244735908insT	ENST00000366534.4	+	11	1837_1838	c.1783_1784insT	c.(1783-1785)gttfs	p.V595fs	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Frame_Shift_Ins_p.V595fs|C1orf101_ENST00000366531.3_Frame_Shift_Ins_p.V444fs	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	595						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TGTTGCTCATGTTTTTTACTTT	0.396																																																	0																																										SO:0001589	frameshift_variant	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1789dupT	1.37:g.244735913_244735913dupT	ENSP00000355492:p.Val595fs		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Frame_Shift_Ins	INS	NULL	p.Y446fs	ENST00000366534.4	37	c.1330_1331	CCDS44340.1	1																																																																																			C1orf101	-	NULL	ENSG00000179397		0.396	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1		0	82	0	-	NM_173807		244735908	1	tier1		no_errors	ENST00000366531	ensembl	human	known	74_37	frame_shift_ins	29.89	61	26	INS	0.000:0.000	T	T	244735908	-	T	244735907	7	5	87	1	0	1	1	0	0	0	0	0	1983	1377	48	0	1825	0	C1orf101	1	244735907	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1381400	244735907	4514714	204	23328											
C1orf101	257044	genome.wustl.edu	37	chr1	244769091	244769091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagctttaataatactatgGcacaggtatggcatctttgg	12	14	9	6	0	1	0	0	0	1	0	1	0	1	0	0	4	2	4	0	4	6	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:244769091G>T	ENST00000366534.4	+	18	2452	c.2398G>T	c.(2398-2400)Gca>Tca	p.A800S	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.A800S|C1orf101_ENST00000366531.3_Missense_Mutation_p.A649S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	800						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TAATACTATGGCACAGGTATG	0.333																																																	0													102	103	103					1																	244769091		2203	4300	6503	SO:0001583	missense	0			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2398G>T	1.37:g.244769091G>T	ENSP00000355492:p.Ala800Ser		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.A649S	ENST00000366534.4	37	c.1945	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344228	0.24339	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.62	-5.89	0.02282	.	0.920090	0.09215	N	0.832726	T	0.09598	0.0236	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.32467	0.187;0.131;0.372;0.056	B;B;B;B	0.27500	0.08;0.023;0.046;0.022	T	0.37244	-0.9714	10	0.09843	T	0.71	.	2.314	0.04194	0.2629:0.2522:0.3618:0.1231	.	720;800;800;649	B1AQM6;Q5SY80;Q5SY80-2;B4DZR4	.;CA101_HUMAN;.;.	S	800;800;800;720;649	ENSP00000355492:A800S;ENSP00000355491:A800S;ENSP00000395796:A720S;ENSP00000355489:A649S	ENSP00000355489:A649S	A	+	1	0	C1orf101	242835714	0.001000	0.12720	0.012000	0.15200	0.116000	0.19942	-0.327000	0.07955	-0.920000	0.03799	-0.482000	0.04802	GCA	C1orf101	-	NULL	ENSG00000179397		0.333	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	-	0	76	0	G	NM_173807		244769091	1	tier1	-	no_errors	ENST00000366531	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.006	T	T	244769091	G	T	244769091	3	4	87	1	0	0	0	0	1	0	0	0	1983	1203	42	3	2468	3	C1orf101	1	244769091	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	33184	244769091	4481530	205	23329											
FAM36A	116228	genome.wustl.edu	37	chr1	245005347	245005347	+	Frame_Shift_Del	DEL	T	T	-																															gttgtggctggctttggacaTtttttgttcactagtgagta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:245005347delT	ENST00000411948.2	+	2	537	c.144delT	c.(142-144)catfs	p.H48fs	COX20_ENST00000498262.1_3'UTR|COX20_ENST00000366528.3_Frame_Shift_Del_p.H60fs	NM_198076.4	NP_932342.1	Q5RI15	COX20_HUMAN	COX20 cytochrome C oxidase assembly factor	48						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GCTTTGGACATTTTTTGTTCA	0.343																																																	0													82	75	77					1																	245005347		2203	4300	6503	SO:0001589	frameshift_variant	0			BC062419	CCDS31080.1	1q44	2013-05-24	2013-05-23	2012-02-24	ENSG00000203667	ENSG00000203667		"Mitochondrial respiratory chain complex assembly factors"	26970	protein-coding gene	gene with protein product		614698	"family with sequence similarity 36, member A", "COX20 Cox2 chaperone homolog (S. cerevisiae)"	FAM36A		22356826, 23125284	Standard	NM_198076		Approved	FLJ43269	uc001iar.3	Q5RI15	OTTHUMG00000040401	ENST00000411948.2:c.144delT	1.37:g.245005347delT	ENSP00000406327:p.His48fs		Q8WV86	Frame_Shift_Del	DEL	pfam_Cox20/FAM36A,prints_FAM36A	p.L50fs	ENST00000411948.2	37	c.144	CCDS31080.1	1																																																																																			COX20	-	pfam_Cox20/FAM36A,prints_FAM36A	ENSG00000203667		0.343	COX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX20	HGNC	protein_coding	OTTHUMT00000097174.1		0	128	0	T	NM_198076		245005347	1	tier1		no_errors	ENST00000411948	ensembl	human	known	74_37	frame_shift_del	9.63	122	13	DEL	0.988	-	-	245005347	T	-	245005347	7	5	87	1	0	1	0	1	0	0	0	0	5576	1490	52	0	150	0	FAM36A	1	245005347	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	236256	245005347	4245274	206	23330											
ZNF695	57116	genome.wustl.edu	37	chr1	247163304	247163304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatccctatacaaactccGctgagctgggtccaggcatt	10	9	8	14	1	0	1	0	1	0	0	3	1	3	1	3	2	3	3	3	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:247163304G>A	ENST00000339986.7	-	2	223	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.R26W	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACAAACTCCGCTGAGCTGGG	0.433																																																	0													68	74	72					1																	247163304		2195	4293	6488	SO:0001583	missense	0				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.76C>T	1.37:g.247163304G>A	ENSP00000341236:p.Arg26Trp		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R26W	ENST00000339986.7	37	c.76	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	G	6.165	0.398650	0.11696	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.03004	4.08;4.08	0.588	-1.18	0.09617	Krueppel-associated box (4);	.	.	.	.	T	0.15046	0.0363	M	0.86864	2.845	0.21386	N	0.999701	D;D;B	0.76494	0.999;0.995;0.169	D;P;B	0.69654	0.965;0.863;0.01	T	0.04693	-1.0933	8	0.72032	D	0.01	.	.	.	.	.	26;26;26	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	W	26	ENSP00000429736:R26W;ENSP00000341236:R26W	ENSP00000428213:R26W	R	-	1	2	ZNF695	245229927	0.200000	0.23398	0.488000	0.27440	0.029000	0.11900	0.703000	0.25646	-0.583000	0.05921	0.195000	0.17529	CGG	ZNF695	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197472		0.433	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	-	0	87	0	G	NM_020394		247163304	-1	tier1	-	no_errors	ENST00000339986	ensembl	human	known	74_37	missense	20.51	62	16	SNP	0.691	A	A	247163304	G	A	247163304	3	1	87	1	0	0	0	0	1	0	0	0	18146	1086	38	1	1483	1	ZNF695	1	247163304	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2157957	247163304	2087317	207	23331											
OR2L13	284521	genome.wustl.edu	37	chr1	248263058	248263059	+	Frame_Shift_Del	DEL	CT	CT	-																															cgttatttggccatctgccaCtctctctattatcctatccg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:248263058_248263059delCT	ENST00000358120.2	+	2	526_527	c.381_382delCT	c.(379-384)cactctfs	p.S128fs	OR2L13_ENST00000366478.2_Frame_Shift_Del_p.S128fs			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATCTGCCACTCTCTCTATTA	0.495																																																	0																																										SO:0001589	frameshift_variant	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.381_382delCT	1.37:g.248263064_248263065delCT	ENSP00000350836:p.Ser128fs		Q5VUR5	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y130fs	ENST00000358120.2	37	c.381_382	CCDS1637.1	1																																																																																			OR2L13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196071		0.495	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1		0	48	0	CT	NM_175911		248263059	1	tier1		no_errors	ENST00000358120	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	0.005:0.989	-	-	248263059	CT	-	248263058	7	5	87	1	0	1	0	1	0	0	0	0	11045	564	20	0	383	0	OR2L13	1	248263058	Frame_Shift_Del	DEL	CT	TCGA-L5-A8NM-01A-11D-A37C-09	1099754	248263058	987563	208	23332											
OR2L13	284521	genome.wustl.edu	37	chr1	248263222	248263222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttctgcgatgtcccagCcatgttgcttcttgcctgta	4	17	8	12	1	3	0	0	0	3	0	4	1	4	0	3	0	4	3	3	0	1	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:248263222C>T	ENST00000358120.2	+	2	690	c.545C>T	c.(544-546)gCc>gTc	p.A182V	OR2L13_ENST00000366478.2_Missense_Mutation_p.A182V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GATGTCCCAGCCATGTTGCTT	0.453																																																	0													268	239	249					1																	248263222		2203	4300	6503	SO:0001583	missense	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"GPCR / Class A : Olfactory receptors"	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.545C>T	1.37:g.248263222C>T	ENSP00000350836:p.Ala182Val		Q5VUR5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A182V	ENST00000358120.2	37	c.545	CCDS1637.1	1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384115	0.61845	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00152	8.66;8.66	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.138558	0.33127	N	0.005258	T	0.00384	0.0012	M	0.65320	2	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54807	-0.8238	10	0.52906	T	0.07	.	11.3428	0.49543	0.1825:0.8175:0.0:0.0	.	182	Q8N349	OR2LD_HUMAN	V	182	ENSP00000355434:A182V;ENSP00000350836:A182V	ENSP00000350836:A182V	A	+	2	0	OR2L13	246329845	0.000000	0.05858	0.998000	0.56505	0.915000	0.54546	0.646000	0.24797	2.138000	0.66242	0.650000	0.86243	GCC	OR2L13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000196071		0.453	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1	-	0	36	0	C	NM_175911		248263222	1	tier1	-	no_errors	ENST00000358120	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.043	T	T	248263222	C	T	248263222	3	4	87	1	0	0	0	0	1	0	0	0	11045	739	26	3	547	3	OR2L13	1	248263222	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	164	248263222	987399	209	23333											
OR2M2	391194	genome.wustl.edu	37	chr1	248343303	248343303	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatcatggcatgggagaatCagaccttcaactccgacttc	11	10	8	12	1	4	2	4	0	0	2	6	4	5	2	2	2	1	1	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:248343303C>T	ENST00000359682.2	+	1	16	c.16C>T	c.(16-18)Cag>Tag	p.Q6*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGAGAATCAGACCTTCAA	0.418																																																	0													196	192	194					1																	248343303		2203	4300	6503	SO:0001587	stop_gained	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.16C>T	1.37:g.248343303C>T	ENSP00000352710:p.Gln6*		A3KFT4	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q6*	ENST00000359682.2	37	c.16	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	c	23.0	4.359849	0.82353	.	.	ENSG00000198601	ENST00000359682	.	.	.	1.44	0.331	0.15933	.	0.306691	0.17821	U	0.160853	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	8.1444	0.31102	0.0:0.7474:0.2526:0.0	.	.	.	.	X	6	.	ENSP00000352710:Q6X	Q	+	1	0	OR2M2	246409926	0.000000	0.05858	0.048000	0.18961	0.566000	0.35808	-0.954000	0.03873	-0.084000	0.12595	0.298000	0.19748	CAG	OR2M2	-	NULL	ENSG00000198601		0.418	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2		0	93	0	C	NM_001004688		248343303	1			no_errors	ENST00000359682	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.970	T	T	248343303	C	T	248343303	4	4	87	1	0	0	0	0	0	1	0	0	11049	827	29	3	18	3	OR2M2	1	248343303	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	80081	248343303	907318	210	23334											
SH3BP5L	80851	genome.wustl.edu	37	chr1	249106200	249106200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggccgtccagactgaCgtggtccgagaggcctcgca	6	8	13	14	4	1	3	0	1	1	2	4	4	3	3	4	3	0	1	4	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr1:249106200C>T	ENST00000366472.5	-	7	2310	c.1081G>A	c.(1081-1083)Gtc>Atc	p.V361I	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.V329I	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	361										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCCAGACTGACGTGGTCCGAG	0.692																																																	0													13	16	15					1																	249106200		2200	4294	6494	SO:0001583	missense	0			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.1081G>A	1.37:g.249106200C>T	ENSP00000355428:p.Val361Ile		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	pfam_SH3-bd_5	p.V361I	ENST00000366472.5	37	c.1081	CCDS31126.1	1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827795	0.32329	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.27	-1.69	0.08186	.	0.391294	0.27917	N	0.017339	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	B;B;B;B	0.18013	0.025;0.007;0.007;0.007	B;B;B;B	0.12156	0.007;0.004;0.003;0.004	T	0.12682	-1.0538	9	0.46703	T	0.11	-4.5242	9.2539	0.37571	0.0:0.3908:0.0:0.6092	.	329;254;361;219	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	I	361;329	.	ENSP00000355428:V361I	V	-	1	0	SH3BP5L	247072823	0.010000	0.17322	0.151000	0.22473	0.717000	0.41224	-0.094000	0.11094	-0.438000	0.07232	0.313000	0.20887	GTC	SH3BP5L	-	NULL	ENSG00000175137		0.692	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5L	HGNC	protein_coding	OTTHUMT00000097140.1		0	20	0	C	NM_030645		249106200	-1			no_errors	ENST00000366472	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.166	T	T	249106200	C	T	249106200	3	4	87	1	0	0	0	0	1	0	0	0	14293	536	19	1	104	1	SH3BP5L	1	249106200	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	762897	249106200	144421	211	23335											
SNTG2	54221	genome.wustl.edu	37	chr2	1312285	1312285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagaacatacatgtgcaGctggcaaggagagatgctgt	12	8	13	8	0	0	2	0	0	0	2	1	4	1	3	1	2	5	4	1	2	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1312285G>A	ENST00000308624.5	+	15	1433	c.1304G>A	c.(1303-1305)aGc>aAc	p.S435N	SNTG2_ENST00000407292.1_Missense_Mutation_p.S308N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	435					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TACATGTGCAGCTGGCAAGGA	0.408																																																	0													225	184	196					2																	1312285		692	1591	2283	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1304G>A	2.37:g.1312285G>A	ENSP00000311837:p.Ser435Asn		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S435N	ENST00000308624.5	37	c.1304	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185684	0.38609	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.71934	-0.61;-0.61	4.9	4.0	0.46444	.	0.089346	0.85682	D	0.000000	T	0.78489	0.4291	M	0.62723	1.935	0.47407	D	0.999416	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.75468	-0.3307	10	0.34782	T	0.22	.	8.4325	0.32766	0.0827:0.1567:0.7606:0.0	.	308;435	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	N	435;308	ENSP00000311837:S435N;ENSP00000385020:S308N	ENSP00000311837:S435N	S	+	2	0	SNTG2	1291292	1.000000	0.71417	1.000000	0.80357	0.449000	0.32228	5.733000	0.68571	0.994000	0.38892	0.655000	0.94253	AGC	SNTG2	-	NULL	ENSG00000172554		0.408	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	53	0	G	NM_018968		1312285	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	A	A	1312285	G	A	1312285	3	1	87	1	0	0	0	0	1	0	0	0	14920	971	34	3	1362	3	SNTG2	2	1312285	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		1312285	241887088	212	23336											
PXDN	7837	genome.wustl.edu	37	chr2	1652402	1652402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccggggtcgtagccgtgGtactctcccagcgtcctcat	5	10	12	14	4	2	0	1	0	1	0	5	0	3	0	4	3	4	2	4	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1652402G>A	ENST00000252804.4	-	17	3200	c.3150C>T	c.(3148-3150)taC>taT	p.Y1050Y		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1050					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGTAGCCGTGGTACTCTCCCA	0.617																																																	0													51	58	56					2																	1652402		2192	4286	6478	SO:0001819	synonymous_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3150C>T	2.37:g.1652402G>A			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.Y1050	ENST00000252804.4	37	c.3150	CCDS46221.1	2																																																																																			PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.617	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	29	0	G	XM_056455		1652402	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	silent	17.65	14	3	SNP	0.676	A	A	1652402	G	A	1652402	2	1	87	1	0	0	0	0	0	0	0	1	12892	1256	44	3		3	PXDN	2	1652402	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	340117	1652402	241546971	213	23337											
PXDN	7837	genome.wustl.edu	37	chr2	1677547	1677547	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtcccatcgtccagcaAgtttaggcgggaatctgtct	8	10	12	11	2	2	0	0	0	2	0	5	1	4	1	2	3	1	2	2	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1677547A>G	ENST00000252804.4	-	9	936	c.886T>C	c.(886-888)Ttg>Ctg	p.L296L	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	296	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGTCCAGCAAGTTTAGGCGG	0.502																																																	0													135	136	136					2																	1677547		2054	4205	6259	SO:0001819	synonymous_variant	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.886T>C	2.37:g.1677547A>G			A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L296	ENST00000252804.4	37	c.886	CCDS46221.1	2																																																																																			PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000130508		0.502	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	55	0	A	XM_056455		1677547	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	silent	29.27	29	12	SNP	0.617	G	G	1677547	A	G	1677547	2	3	87	1	0	0	0	0	0	0	0	1	12892	69	3	4		4	PXDN	2	1677547	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	25145	1677547	241521826	214	23338											
PXDN	7837	genome.wustl.edu	37	chr2	1680771	1680771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagtacacggtgttccccGaggtcacatctgcgtcctgg	7	10	12	12	3	2	1	1	1	1	0	4	2	4	1	3	3	2	2	3	3	2	2	rs375938992		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1680771G>A	ENST00000252804.4	-	8	826	c.776C>T	c.(775-777)tCg>tTg	p.S259L	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	259	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGTTCCCCGAGGTCACATC	0.532																																																	0								G	LEU/SER	1,3941		0,1,1970	60	67	65		776	2.9	0	2		65	0,8308		0,0,4154	no	missense	PXDN	NM_012293.1	145	0,1,6124	AA,AG,GG		0.0,0.0254,0.0082	benign	259/1480	1680771	1,12249	1971	4154	6125	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.776C>T	2.37:g.1680771G>A	ENSP00000252804:p.Ser259Leu		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.S259L	ENST00000252804.4	37	c.776	CCDS46221.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.758|6.758	0.508688|0.508688	0.12883|0.12883	2.54E-4|2.54E-4	0.0|0.0	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.37058	.|1.22	4.77|4.77	2.9|2.9	0.33743|0.33743	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.365309	.|0.26038	.|N	.|0.026718	T|T	0.16085|0.16085	0.0387|0.0387	N|N	0.10837|0.10837	0.055|0.055	0.35092|0.35092	D|D	0.764389|0.764389	.|B;B	.|0.16603	.|0.003;0.018	.|B;B	.|0.17979	.|0.002;0.02	T|T	0.17077|0.17077	-1.0381|-1.0381	5|10	.|0.10636	.|T	.|0.68	-4.5439|-4.5439	7.6146|7.6146	0.28150|0.28150	0.2683:0.0:0.7317:0.0|0.2683:0.0:0.7317:0.0	.|.	.|259;259	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	W|L	255|259	.|ENSP00000252804:S259L	.|ENSP00000252804:S259L	R|S	-|-	1|2	2|0	PXDN|PXDN	1659778|1659778	0.998000|0.998000	0.40836|0.40836	0.016000|0.016000	0.15963|0.15963	0.699000|0.699000	0.40488|0.40488	2.961000|2.961000	0.49168|0.49168	0.969000|0.969000	0.38237|0.38237	0.449000|0.449000	0.29647|0.29647	CGG|TCG	PXDN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000130508		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	44	0	G	XM_056455		1680771	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	36.59	26	15	SNP	0.921	A	A	1680771	G	A	1680771	3	1	87	1	0	0	0	0	1	0	0	0	12892	1059	37	1	3727	1	PXDN	2	1680771	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3224	1680771	241518602	215	23339											
MYT1L	23040	genome.wustl.edu	37	chr2	1893213	1893213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttgttcatgctgaggtCcagggtcccgttctcatcca	5	13	10	13	1	2	1	2	1	1	0	6	1	5	1	3	2	2	4	3	2	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:1893213C>A	ENST00000399161.2	-	16	3067	c.2320G>T	c.(2320-2322)Gac>Tac	p.D774Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D772Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	774					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATGCTGAGGTCCAGGGTCCCG	0.602																																																	0													60	62	61					2																	1893213		2049	4190	6239	SO:0001583	missense	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"Zinc fingers, C2HC-type containing"	7623	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 1"	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2320G>T	2.37:g.1893213C>A	ENSP00000382114:p.Asp774Tyr		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D774Y	ENST00000399161.2	37	c.2320		2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824482	0.90955	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.61742	0.08;0.08	4.78	4.78	0.61160	Myelin transcription factor 1 (1);	0.000000	0.85682	D	0.000000	T	0.78534	0.4298	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.977	T	0.82645	-0.0355	10	0.87932	D	0	-40.6936	18.1739	0.89756	0.0:1.0:0.0:0.0	.	774;772	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	774;720;772	ENSP00000382114:D774Y;ENSP00000396103:D772Y	ENSP00000295067:D720Y	D	-	1	0	MYT1L	1872220	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.713000	0.84693	2.368000	0.80403	0.591000	0.81541	GAC	MYT1L	-	pfam_Myelin_TF	ENSG00000186487		0.602	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	-	0	58	0	C	NM_015025		1893213	-1	tier1	-	no_errors	ENST00000399161	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A	A	1893213	C	A	1893213	3	1	87	1	0	0	0	0	1	0	0	0	10145	855	30	3	1280	3	MYT1L	2	1893213	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	212442	1893213	241306160	216	23340											
RNF144A	9781	genome.wustl.edu	37	chr2	7179767	7179767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctttcttccaggttgtggGcatttttgcaggatttgggc	4	18	12	7	0	2	0	0	0	2	0	3	1	3	1	1	4	1	3	1	4	0	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:7179767G>A	ENST00000320892.6	+	9	1197	c.755G>A	c.(754-756)gGc>gAc	p.G252D	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	252					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CAGGTTGTGGGCATTTTTGCA	0.502																																																	0													228	213	218					2																	7179767		2203	4300	6503	SO:0001583	missense	0			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"RING-type (C3HC4) zinc fingers"	20457	protein-coding gene	gene with protein product			"ring finger protein 144"	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.755G>A	2.37:g.7179767G>A	ENSP00000321330:p.Gly252Asp		D6W4Y6|Q585H5	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING	p.G252D	ENST00000320892.6	37	c.755	CCDS1657.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817030	0.90790	.	.	ENSG00000151692	ENST00000320892	T	0.24908	1.83	5.01	5.01	0.66863	Zinc finger, RING-type (1);	0.045290	0.85682	D	0.000000	T	0.45518	0.1346	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.42916	-0.9423	10	0.87932	D	0	.	18.7372	0.91759	0.0:0.0:1.0:0.0	.	252	P50876	R144A_HUMAN	D	252	ENSP00000321330:G252D	ENSP00000321330:G252D	G	+	2	0	RNF144A	7097218	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.198000	0.94994	2.486000	0.83907	0.549000	0.68633	GGC	RNF144A	-	NULL	ENSG00000151692		0.502	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144A	HGNC	protein_coding	OTTHUMT00000206725.2	-	0	84	0	G	NM_014746		7179767	1	tier1	-	no_errors	ENST00000320892	ensembl	human	known	74_37	missense	8.64	74	7	SNP	1.000	A	A	7179767	G	A	7179767	3	1	87	1	0	0	0	0	1	0	0	0	13490	1203	42	3	781	3	RNF144A	2	7179767	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5286554	7179767	236019606	217	23341											
KIDINS220	57498	genome.wustl.edu	37	chr2	8934033	8934033	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggcctataaagtaatcGcccatctttgggatttctta	9	15	9	8	1	2	0	0	0	2	0	3	1	2	1	2	2	0	2	2	2	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:8934033G>A	ENST00000256707.3	-	12	1364	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	KIDINS220_ENST00000473731.1_Nonsense_Mutation_p.R395*|KIDINS220_ENST00000319688.5_Nonsense_Mutation_p.R396*|KIDINS220_ENST00000427284.1_Nonsense_Mutation_p.R395*|KIDINS220_ENST00000418530.1_Nonsense_Mutation_p.R353*	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	395					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAAGTAATCGCCCATCTTTG	0.393																																																	0													89	82	84					2																	8934033		1823	4077	5900	SO:0001587	stop_gained	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1183C>T	2.37:g.8934033G>A	ENSP00000256707:p.Arg395*		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Nonsense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R395*	ENST00000256707.3	37	c.1183	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	g	25.7	4.663398	0.88251	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	.	.	.	5.83	1.62	0.23740	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6331	0.85039	0.0:0.0:0.354:0.646	.	.	.	.	X	142;79;395;395;353;395;396;396	.	ENSP00000256707:R395X	R	-	1	2	KIDINS220	8851484	0.994000	0.37717	0.002000	0.10522	0.010000	0.07245	1.883000	0.39658	0.311000	0.23014	0.632000	0.83419	CGA	KIDINS220	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000134313		0.393	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0	66	0	G	NM_020738		8934033	-1			no_errors	ENST00000256707	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	0.059	A	A	8934033	G	A	8934033	4	1	87	1	0	0	0	0	0	1	0	0	8298	1095	38	1	4208	1	KIDINS220	2	8934033	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1754266	8934033	234265340	218	23342											
CYS1	192668	genome.wustl.edu	37	chr2	10199034	10199034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccctcttccgagtggtcGtaggagatggctgccggcct	5	9	14	13	3	1	1	0	0	1	1	3	3	2	1	5	4	2	2	5	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:10199034G>A	ENST00000381813.4	-	3	610	c.423C>T	c.(421-423)taC>taT	p.Y141Y	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	141						cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CCGAGTGGTCGTAGGAGATGG	0.667																																																	0													27	26	26					2																	10199034		2203	4299	6502	SO:0001819	synonymous_variant	0			AF544983, AA446394	CCDS33145.1	2p25.1	2012-10-02			ENSG00000205795	ENSG00000205795			18525	protein-coding gene	gene with protein product						12733055, 11854326	Standard	NM_001037160		Approved		uc002rag.2	Q717R9	OTTHUMG00000151703	ENST00000381813.4:c.423C>T	2.37:g.10199034G>A				Silent	SNP	NULL	p.Y141	ENST00000381813.4	37	c.423	CCDS33145.1	2																																																																																			CYS1	-	NULL	ENSG00000205795		0.667	CYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYS1	HGNC	protein_coding	OTTHUMT00000323537.1	-	0	90	0	G			10199034	-1	tier1	-	no_errors	ENST00000381813	ensembl	human	known	74_37	silent	14.63	69	12	SNP	0.030	A	A	10199034	G	A	10199034	2	1	87	1	0	0	0	0	0	0	0	1	4209	1140	40	1		1	CYS1	2	10199034	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1265001	10199034	233000339	219	23343											
GREB1	9687	genome.wustl.edu	37	chr2	11767102	11767102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagacagagggatgtccCggaagccggaggacctttat	10	7	15	9	2	0	2	0	0	0	2	1	6	1	6	3	4	2	1	3	4	2	2	rs372022602		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:11767102C>T	ENST00000381486.2	+	25	4621	c.4321C>T	c.(4321-4323)Cgg>Tgg	p.R1441W	GREB1_ENST00000396123.1_Missense_Mutation_p.R439W|GREB1_ENST00000234142.5_Missense_Mutation_p.R1441W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1441						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGGGATGTCCCGGAAGCCGGA	0.527																																					Ovarian(39;850 945 2785 23371 33093)												0								C	TRP/ARG	0,4042		0,0,2021	67	72	70		4321	1	0.5	2		70	1,8355		0,1,4177	no	missense	GREB1	NM_014668.3	101	0,1,6198	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	1441/1950	11767102	1,12397	2021	4178	6199	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.4321C>T	2.37:g.11767102C>T	ENSP00000370896:p.Arg1441Trp		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1441W	ENST00000381486.2	37	c.4321	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890166	0.52014	0.0	1.2E-4	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.24350	3.18;3.18;1.86	5.58	0.966	0.19667	.	0.437004	0.25394	N	0.030988	T	0.19927	0.0479	L	0.55481	1.735	0.31758	N	0.633731	P	0.42993	0.797	B	0.30716	0.119	T	0.27020	-1.0086	10	0.48119	T	0.1	-37.9196	13.7889	0.63128	0.7442:0.2558:0.0:0.0	.	1441	Q4ZG55	GREB1_HUMAN	W	1441;1441;439	ENSP00000370896:R1441W;ENSP00000234142:R1441W;ENSP00000379429:R439W	ENSP00000234142:R1441W	R	+	1	2	GREB1	11684553	0.365000	0.25006	0.516000	0.27786	0.568000	0.35870	0.704000	0.25661	0.231000	0.21079	0.655000	0.94253	CGG	GREB1	-	NULL	ENSG00000196208		0.527	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	-	0	55	0	C	NM_014668		11767102	1	tier1	-	no_errors	ENST00000234142	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.321	T	T	11767102	C	T	11767102	3	4	87	1	0	0	0	0	1	0	0	0	6787	643	23	1	4523	1	GREB1	2	11767102	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1568068	11767102	231432271	220	23344											
LPIN1	23175	genome.wustl.edu	37	chr2	11960543	11960543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaccaaatataggatgtgTattcatacaagcaagtagga	16	12	8	5	0	1	0	1	0	0	0	1	2	1	2	1	2	3	3	1	2	9	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:11960543T>C	ENST00000256720.2	+	19	2509	c.2416T>C	c.(2416-2418)Tat>Cat	p.Y806H	LPIN1_ENST00000449576.2_Missense_Mutation_p.Y891H|LPIN1_ENST00000396099.1_Missense_Mutation_p.Y848H|LPIN1_ENST00000404113.2_Missense_Mutation_p.Y307H|LPIN1_ENST00000425416.2_Missense_Mutation_p.Y812H|LPIN1_ENST00000396097.1_Missense_Mutation_p.Y536H	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	806	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATAGGATGTGTATTCATACAA	0.348																																																	0													103	99	100					2																	11960543		2203	4300	6503	SO:0001583	missense	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2416T>C	2.37:g.11960543T>C	ENSP00000256720:p.Tyr806His		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.Y891H	ENST00000256720.2	37	c.2671	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.271188	0.80469	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.02	4.85	0.62838	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);	0.055928	0.64402	D	0.000001	D	0.85754	0.5770	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	0.995;1.0;0.995	D;D;D	0.91635	0.981;0.999;0.95	D	0.86337	0.1702	10	0.66056	D	0.02	-24.2992	13.3687	0.60701	0.0:0.0:0.1316:0.8684	.	307;891;806	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	H	891;848;812;806;536;307	ENSP00000397908:Y891H;ENSP00000379406:Y848H;ENSP00000401522:Y812H;ENSP00000256720:Y806H;ENSP00000379404:Y536H;ENSP00000386120:Y307H	ENSP00000256720:Y806H	Y	+	1	0	LPIN1	11877994	1.000000	0.71417	0.984000	0.44739	0.959000	0.62525	7.603000	0.82811	1.074000	0.40909	0.533000	0.62120	TAT	LPIN1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000134324		0.348	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	-	0	53	0	T	NM_145693		11960543	1	tier1	-	no_errors	ENST00000449576	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	C	C	11960543	T	C	11960543	3	2	87	1	0	0	0	0	1	0	0	0	8953	1638	57	4	2486	4	LPIN1	2	11960543	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	193441	11960543	231238830	221	23345											
LPIN1	23175	genome.wustl.edu	37	chr2	11964848	11964848	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgttcggataccttcagTaacttcaccttttggagaga	9	13	8	11	1	2	1	2	0	0	1	3	4	2	3	3	2	2	2	3	2	2	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:11964848T>C	ENST00000256720.2	+	20	2697	c.2604T>C	c.(2602-2604)agT>agC	p.S868S	LPIN1_ENST00000449576.2_Silent_p.S953S|LPIN1_ENST00000396099.1_Silent_p.S910S|LPIN1_ENST00000404113.2_Silent_p.S369S|LPIN1_ENST00000425416.2_Silent_p.S874S|LPIN1_ENST00000396097.1_Silent_p.S598S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	868					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		ATACCTTCAGTAACTTCACCT	0.483																																																	0													129	127	128					2																	11964848		2203	4300	6503	SO:0001819	synonymous_variant	0			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2604T>C	2.37:g.11964848T>C			A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.S953	ENST00000256720.2	37	c.2859	CCDS1682.1	2																																																																																			LPIN1	-	NULL	ENSG00000134324		0.483	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	-	0	38	0	T	NM_145693		11964848	1	tier1	-	no_errors	ENST00000449576	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.906	C	C	11964848	T	C	11964848	2	2	87	1	0	0	0	0	0	0	0	1	8953	1635	57	4		4	LPIN1	2	11964848	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	4305	11964848	231234525	222	23346											
NBAS	51594	genome.wustl.edu	37	chr2	15614272	15614272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtaatggttcgtgggcgtttCcgtggtggtgcaaatcgctc	5	13	15	8	4	0	0	0	0	0	0	4	0	1	0	1	4	1	5	1	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:15614272C>T	ENST00000281513.5	-	15	1543	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	NBAS_ENST00000441750.1_Silent_p.R506R	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	506					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTGGGCGTTTCCGTGGTGGTG	0.448																																																	0													149	143	145					2																	15614272		2203	4300	6503	SO:0001819	synonymous_variant	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1518G>A	2.37:g.15614272C>T			O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R506	ENST00000281513.5	37	c.1518	CCDS1685.1	2																																																																																			NBAS	-	NULL	ENSG00000151779		0.448	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0	82	0	C	NM_015909		15614272	-1	tier1	-	no_errors	ENST00000281513	ensembl	human	known	74_37	silent	13.58	70	11	SNP	0.997	T	T	15614272	C	T	15614272	2	4	87	1	0	0	0	0	0	0	0	1	10224	842	30	3		3	NBAS	2	15614272	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3649424	15614272	227585101	223	23347											
NBAS	51594	genome.wustl.edu	37	chr2	15694247	15694248	+	Frame_Shift_Ins	INS	-	-	A																															gaaccagtccatcagggagcINSaaaaaaggtgccgggctgaa																								rs375920205		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:15694247_15694248insA	ENST00000281513.5	-	4	249_250	c.224_225insT	c.(223-225)ttgfs	p.L75fs	NBAS_ENST00000441750.1_Frame_Shift_Ins_p.L75fs	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	75					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATCAGGGAGCAAAAAAGGTGC	0.371																																																	0																																										SO:0001589	frameshift_variant	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.225dupT	2.37:g.15694253_15694253dupA	ENSP00000281513:p.Leu75fs		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Frame_Shift_Ins	INS	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.L75fs	ENST00000281513.5	37	c.225_224	CCDS1685.1	2																																																																																			NBAS	-	NULL	ENSG00000151779		0.371	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1		0	136	0	-	NM_015909		15694248	-1	tier1		no_errors	ENST00000281513	ensembl	human	known	74_37	frame_shift_ins	29.30	111	46	INS	1.000:1.000	A	A	15694248	-	A	15694247	7	5	87	1	0	1	1	0	0	0	0	0	10224	709	25	0	7086	0	NBAS	2	15694247	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	79975	15694247	227505126	224	23348											
SMC6	79677	genome.wustl.edu	37	chr2	17898356	17898356	+	Splice_Site	DEL	T	T	-																															ttcaaagtaactaccctaccTttttttcagctcttcaattc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:17898356delT	ENST00000448223.2	-	13	1449	c.1180delA	c.(1180-1182)agt>gt	p.S394fs	SMC6_ENST00000351948.4_Splice_Site_p.S394fs|SMC6_ENST00000381272.4_Splice_Site_p.S420fs|SMC6_ENST00000402989.1_Splice_Site_p.S394fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	394					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACCCTACCTTTTTTTCAGC	0.294																																																	0													103	101	102					2																	17898356		2202	4295	6497	SO:0001630	splice_region_variant	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1181+1A>-	2.37:g.17898356delT			A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase	p.S420fs	ENST00000448223.2	37	c.1258	CCDS1690.1	2																																																																																			SMC6	-	superfamily_P-loop_NTPase	ENSG00000163029		0.294	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1		0	52	0	T	NM_024624	Frame_Shift_Del	17898356	-1	tier1		no_errors	ENST00000381272	ensembl	human	known	74_37	frame_shift_del	13.21	46	7	DEL	0.998	-	-	17898356	T	-	17898356	8	5	87	1	0	1	0	1	0	0	1	0	14832	1623	56	0	2159	0	SMC6	2	17898356	Splice_Site	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2204109	17898356	225301017	225	23349											
KCNS3	3790	genome.wustl.edu	37	chr2	18112633	18112633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgattcttgctgcagcaatCgctaccaggaacgcaaggag	11	9	11	10	2	1	1	0	1	1	0	2	3	1	3	1	2	5	5	1	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:18112633C>T	ENST00000403915.1	+	3	809	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	120					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.R120C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGCAATCGCTACCAGGA	0.507																																																	1	Substitution - Missense(1)	urinary_tract(1)											109	110	110					2																	18112633		2203	4300	6503	SO:0001583	missense	0			AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.358C>T	2.37:g.18112633C>T	ENSP00000385968:p.Arg120Cys		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	p.R120C	ENST00000403915.1	37	c.358	CCDS1692.1	2	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704490	0.48412	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	T;T	0.43688	0.94;0.94	5.65	4.72	0.59763	BTB/POZ-like (1);BTB/POZ fold (2);	0.318362	0.34411	N	0.003982	T	0.49949	0.1587	M	0.73962	2.25	0.58432	D	0.999999	D	0.69078	0.997	P	0.47470	0.548	T	0.57341	-0.7828	10	0.72032	D	0.01	.	13.6152	0.62103	0.3152:0.6848:0.0:0.0	.	120	Q9BQ31	KCNS3_HUMAN	C	120	ENSP00000385968:R120C;ENSP00000305824:R120C	ENSP00000305824:R120C	R	+	1	0	KCNS3	17976114	0.995000	0.38212	0.974000	0.42286	0.988000	0.76386	3.032000	0.49736	2.825000	0.97269	0.655000	0.94253	CGC	KCNS3	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2	ENSG00000170745		0.507	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS3	HGNC	protein_coding	OTTHUMT00000323808.1		0	34	0	C	NM_002252		18112633	1			no_errors	ENST00000304101	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.995	T	T	18112633	C	T	18112633	3	4	87	1	0	0	0	0	1	0	0	0	8117	884	31	1	360	1	KCNS3	2	18112633	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	214277	18112633	225086740	226	23350											
WDR35	57539	genome.wustl.edu	37	chr2	20137695	20137695	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttctgaagagctgcttcAgccagtaggcgcctttattt	8	14	10	9	1	2	2	1	1	1	1	2	2	2	2	2	1	3	4	2	1	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:20137695A>C	ENST00000345530.3	-	20	2224	c.2109T>G	c.(2107-2109)gcT>gcG	p.A703A	WDR35_ENST00000281405.4_Silent_p.A692A|WDR35_ENST00000416055.2_Silent_p.A268A	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	703					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTGCTTCAGCCAGTAGGC	0.378																																																	0													72	74	73					2																	20137695		2203	4299	6502	SO:0001819	synonymous_variant	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2109T>G	2.37:g.20137695A>C			B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A703	ENST00000345530.3	37	c.2109	CCDS33152.1	2																																																																																			WDR35	-	pirsf_WD_repeat_p35	ENSG00000118965		0.378	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2		0	35	0	A	NM_020779		20137695	-1			no_errors	ENST00000345530	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.983	C	C	20137695	A	C	20137695	2	2	87	1	0	0	0	0	0	0	0	1	17338	175	7	4		4	WDR35	2	20137695	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2025062	20137695	223061678	227	23351											
OTOF	9381	genome.wustl.edu	37	chr2	26700559	26700559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgccccgcaggcgaCgctcagggtaggacttctcc	7	5	13	16	4	2	0	1	0	1	0	3	3	2	2	4	4	0	3	4	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26700559C>T	ENST00000272371.2	-	19	2399	c.2273G>A	c.(2272-2274)cGt>cAt	p.R758H	OTOF_ENST00000402415.3_Missense_Mutation_p.R68H|OTOF_ENST00000403946.3_Missense_Mutation_p.R758H|OTOF_ENST00000339598.3_Missense_Mutation_p.R11H|OTOF_ENST00000338581.6_Missense_Mutation_p.R11H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	758					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGGCGACGCTCAGGGTA	0.627																																					GBM(102;732 1451 20652 24062 31372)												0													55	39	44					2																	26700559		2197	4292	6489	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2273G>A	2.37:g.26700559C>T	ENSP00000272371:p.Arg758His		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R758H	ENST00000272371.2	37	c.2273	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.343567	0.95783	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80824	-1.18;-1.18;-1.14;-1.42;-1.42	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.89171	0.6639	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;0.999	P;D;D;D	0.78314	0.745;0.934;0.991;0.949	D	0.89819	0.3987	10	0.51188	T	0.08	-3.8251	17.3578	0.87341	0.0:1.0:0.0:0.0	.	758;11;68;11	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	11;11;68;758;758	ENSP00000345137:R11H;ENSP00000344521:R11H;ENSP00000383906:R68H;ENSP00000272371:R758H;ENSP00000385255:R758H	ENSP00000272371:R758H	R	-	2	0	OTOF	26554063	1.000000	0.71417	0.967000	0.41034	0.964000	0.63967	7.624000	0.83124	2.191000	0.70037	0.511000	0.50034	CGT	OTOF	-	NULL	ENSG00000115155		0.627	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	62	0	C			26700559	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	32.79	41	20	SNP	1.000	T	T	26700559	C	T	26700559	3	4	87	1	0	0	0	0	1	0	0	0	11342	536	19	1	4017	1	OTOF	2	26700559	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6562864	26700559	216498814	228	23352											
OTOF	9381	genome.wustl.edu	37	chr2	26700658	26700658	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgggccacagccccGcctccccagcctccccaaat	7	6	8	20	1	0	1	0	1	0	0	2	1	2	1	9	1	3	1	9	1	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26700658G>A	ENST00000272371.2	-	19	2341				OTOF_ENST00000402415.3_Missense_Mutation_p.A35V|OTOF_ENST00000403946.3_Intron|OTOF_ENST00000339598.3_Intron|OTOF_ENST00000338581.6_Intron	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCACAGCCCCGCCTCCCCAGC	0.577																																					GBM(102;732 1451 20652 24062 31372)												0													39	34	36					2																	26700658		2185	4292	6477	SO:0001627	intron_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.2215-41C>T	2.37:g.26700658G>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.A35V	ENST00000272371.2	37	c.104	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775831	0.31411	.	.	ENSG00000115155	ENST00000402415	T	0.77489	-1.1	3.4	-2.55	0.06288	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.09310	N	0.999999	B	0.15719	0.014	B	0.09377	0.004	T	0.33675	-0.9859	7	.	.	.	.	4.1022	0.10018	0.0:0.2215:0.4005:0.378	.	35	Q9HC10-3	.	V	35	ENSP00000383906:A35V	.	A	-	2	0	OTOF	26554162	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	0.075000	0.14686	-0.324000	0.08589	0.313000	0.20887	GCG	OTOF	-	NULL	ENSG00000115155		0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	47	0	G			26700658	-1	tier1	-	no_errors	ENST00000402415	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.000	A	A	26700658	G	A	26700658	1	1	87	0	1	0	0	0	0	0	0	0	11342	1087	38	1		1	OTOF	2	26700658	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	99	26700658	216498715	229	23353											
OTOF	9381	genome.wustl.edu	37	chr2	26705387	26705387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatgcgtttgcagagtgggGggaagaggtctgtaaagacg	10	9	17	5	2	2	3	1	0	1	3	2	4	2	4	0	4	2	3	0	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26705387G>T	ENST00000272371.2	-	14	1592	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	OTOF_ENST00000403946.3_Missense_Mutation_p.P489H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	489	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGAGTGGGGGGAAGAGGTC	0.557																																					GBM(102;732 1451 20652 24062 31372)												0													106	103	104					2																	26705387		2203	4300	6503	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1466C>A	2.37:g.26705387G>T	ENSP00000272371:p.Pro489His		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P489H	ENST00000272371.2	37	c.1466	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740300	0.89573	.	.	ENSG00000115155	ENST00000272371;ENST00000403946	T;T	0.69306	-0.39;-0.39	5.13	5.13	0.70059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85044	0.5607	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88148	0.2849	10	0.87932	D	0	-26.2006	18.1792	0.89772	0.0:0.0:1.0:0.0	.	489	Q9HC10	OTOF_HUMAN	H	489	ENSP00000272371:P489H;ENSP00000385255:P489H	ENSP00000272371:P489H	P	-	2	0	OTOF	26558891	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.807000	0.99171	2.396000	0.81511	0.561000	0.74099	CCC	OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000115155		0.557	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	31	0	G			26705387	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	26705387	G	T	26705387	3	4	87	1	0	0	0	0	1	0	0	0	11342	1232	43	3	4988	3	OTOF	2	26705387	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4729	26705387	216493986	230	23354											
OTOF	9381	genome.wustl.edu	37	chr2	26725267	26725267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggccagatggtcaaggTcttccatctccagcaccgcc	9	8	10	14	1	3	1	1	0	2	1	5	2	4	1	5	3	1	1	5	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26725267T>C	ENST00000272371.2	-	7	737	c.611A>G	c.(610-612)gAc>gGc	p.D204G	OTOF_ENST00000403946.3_Missense_Mutation_p.D204G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	204					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGTCAAGGTCTTCCATCTC	0.532																																					GBM(102;732 1451 20652 24062 31372)												0													96	77	84					2																	26725267		2203	4300	6503	SO:0001583	missense	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.611A>G	2.37:g.26725267T>C	ENSP00000272371:p.Asp204Gly		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D204G	ENST00000272371.2	37	c.611	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873433	0.72180	.	.	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.81163	-1.46;-1.46	5.52	5.52	0.82312	.	0.046847	0.85682	D	0.000000	T	0.70307	0.3209	L	0.48362	1.52	0.58432	D	0.999999	P	0.43094	0.799	B	0.31869	0.137	T	0.69935	-0.5010	10	0.19147	T	0.46	-28.4877	14.4804	0.67579	0.0:0.0:0.0:1.0	.	204	Q9HC10	OTOF_HUMAN	G	204;204;88	ENSP00000272371:D204G;ENSP00000385255:D204G	ENSP00000272371:D204G	D	-	2	0	OTOF	26578771	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.521000	0.67086	2.100000	0.63781	0.533000	0.62120	GAC	OTOF	-	NULL	ENSG00000115155		0.532	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	-	0	42	0	T			26725267	-1	tier1	-	no_errors	ENST00000272371	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	C	C	26725267	T	C	26725267	3	2	87	1	0	0	0	0	1	0	0	0	11342	1667	58	4	5871	4	OTOF	2	26725267	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	19880	26725267	216474106	231	23355											
OTOF	9381	genome.wustl.edu	37	chr2	26741971	26741971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaccatgcggaaggtcccGatgagcctggggatggcaga	10	5	16	10	2	0	2	0	1	0	1	1	5	1	4	3	5	3	2	3	5	1	0	rs201753818	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:26741971G>A	ENST00000272371.2	-	4	360	c.234C>T	c.(232-234)atC>atT	p.I78I	OTOF_ENST00000403946.3_Silent_p.I78I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	78					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAGGTCCCGATGAGCCTGG	0.567													G|||	2	0.000399361	8e-04	0.0014	5008	,	,		21913	0		0	False		,,,				2504	0				GBM(102;732 1451 20652 24062 31372)												0													75	54	61					2																	26741971		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"fer-1-like family member 2"	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.234C>T	2.37:g.26741971G>A			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.I78	ENST00000272371.2	37	c.234	CCDS1725.1	2																																																																																			OTOF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000115155		0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0	29	0	G			26741971	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.944	A	A	26741971	G	A	26741971	2	1	87	1	0	0	0	0	0	0	0	1	11342	1048	37	1		1	OTOF	2	26741971	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	16704	26741971	216457402	232	23356											
CAD	790	genome.wustl.edu	37	chr2	27455420	27455420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagcccagacaaattaccTatacctaacgtattggggca	13	8	8	12	1	0	1	0	0	0	1	0	1	0	1	4	2	4	2	4	2	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:27455420T>C	ENST00000403525.1	+	17	2705	c.2561T>C	c.(2560-2562)cTa>cCa	p.L854P	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000264705.4_Missense_Mutation_p.L917P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAATTACCTATACCTAACG	0.532																																																	0													160	110	127					2																	27455420		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.2561T>C	2.37:g.27455420T>C	ENSP00000384510:p.Leu854Pro		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L917P	ENST00000403525.1	37	c.2750		2	.	.	.	.	.	.	.	.	.	.	T	17.80	3.479440	0.63849	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.97256	-4.31;-4.31	5.37	5.37	0.77165	Pre-ATP-grasp fold (1);Carbamoyl-phosphate synthetase, large subunit, oligomerisation (2);	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98419	1.0576	10	0.87932	D	0	0.0353	14.3307	0.66553	0.0:0.0:0.0:1.0	.	854;917	F8VPD4;P27708	.;PYR1_HUMAN	P	917;854	ENSP00000264705:L917P;ENSP00000384510:L854P	ENSP00000264705:L917P	L	+	2	0	CAD	27308924	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	7.124000	0.77185	2.256000	0.74724	0.528000	0.53228	CTA	CAD	-	pfam_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_lsu_oligo,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.532	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0	58	0	T			27455420	1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C	C	27455420	T	C	27455420	3	2	87	1	0	0	0	0	1	0	0	0	2572	1522	53	4	2820	4	CAD	2	27455420	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	713449	27455420	215743953	233	23357											
GTF3C2	2976	genome.wustl.edu	37	chr2	27558466	27558466	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctgtgctactcaccTgggggttgctgagccagcag	5	11	13	12	0	1	1	1	1	0	0	2	1	2	1	3	2	6	5	3	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:27558466T>C	ENST00000359541.2	-	10	2004	c.1575A>G	c.(1573-1575)ccA>ccG	p.P525P	AC109828.1_ENST00000589232.1_RNA|AC109828.1_ENST00000590754.1_RNA|AC109828.1_ENST00000585326.1_RNA|AC109828.1_ENST00000587586.1_RNA|AC109828.1_ENST00000585645.1_RNA|AC109828.1_ENST00000588707.1_RNA|AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000590383.1_RNA|GTF3C2_ENST00000264720.3_Splice_Site_p.P525P|AC109828.1_ENST00000608473.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000589853.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	525					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTACTCACCTGGGGGTTGCT	0.602																																																	0													21	20	21					2																	27558466		2164	4237	6401	SO:0001630	splice_region_variant	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"General transcription factors", "WD repeat domain containing"	4665	protein-coding gene	gene with protein product		604883	"general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.1576+1A>G	2.37:g.27558466T>C			D6W557|Q16632|Q9BWI7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P525	ENST00000359541.2	37	c.1575	CCDS1749.1	2																																																																																			GTF3C2	-	superfamily_WD40_repeat_dom	ENSG00000115207		0.602	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0	36	0	T		Silent	27558466	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.996	C	C	27558466	T	C	27558466	5	2	87	1	0	0	0	0	0	0	1	0	6900	1594	55	4	1200	4	GTF3C2	2	27558466	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	103046	27558466	215640907	234	23358											
C2orf16	84226	genome.wustl.edu	37	chr2	27804744	27804744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgagagaagccattgcagtCcctctgagagaagacatcgc	12	7	11	11	1	1	5	0	2	1	3	3	7	2	5	2	0	2	1	2	0	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:27804744C>T	ENST00000408964.2	+	1	5356	c.5305C>T	c.(5305-5307)Ccc>Tcc	p.P1769S	ZNF512_ENST00000413371.2_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1769	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCATTGCAGTCCCTCTGAGAG	0.532																																																	0													202	205	204					2																	27804744		1925	4134	6059	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"P-S-E-R-S-H-H-S repeats containing"						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5305C>T	2.37:g.27804744C>T	ENSP00000386190:p.Pro1769Ser		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.P1769S	ENST00000408964.2	37	c.5305	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	c	12.15	1.852135	0.32699	.	.	ENSG00000221843	ENST00000408964	T	0.06371	3.31	4.01	0.0775	0.14408	.	.	.	.	.	T	0.04634	0.0126	L	0.31926	0.97	0.09310	N	1	B	0.29432	0.244	B	0.24848	0.056	T	0.40384	-0.9566	9	0.39692	T	0.17	.	5.2353	0.15443	0.0:0.5721:0.1516:0.2763	.	1769	Q68DN1	CB016_HUMAN	S	1769	ENSP00000386190:P1769S	ENSP00000386190:P1769S	P	+	1	0	C2orf16	27658248	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.209000	0.01228	0.000000	0.14550	0.462000	0.41574	CCC	C2orf16	-	NULL	ENSG00000221843		0.532	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	-	0	110	0	C	NM_032266		27804744	1	tier1	-	no_errors	ENST00000408964	ensembl	human	known	74_37	missense	20.95	83	22	SNP	0.000	T	T	27804744	C	T	27804744	3	4	87	1	0	0	0	0	1	0	0	0	2164	855	30	3	5307	3	C2orf16	2	27804744	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	246278	27804744	215394629	235	23359											
PLB1	151056	genome.wustl.edu	37	chr2	28827531	28827531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccccagagcagcatgCgcgagctggtggggtcaggc	6	7	17	11	2	1	1	1	0	0	1	2	2	2	1	2	4	4	3	2	4	0	0	rs145179606		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:28827531C>T	ENST00000327757.5	+	41	2910	c.2866C>T	c.(2866-2868)Cgc>Tgc	p.R956C	PLB1_ENST00000422425.2_Missense_Mutation_p.R945C|PLB1_ENST00000541605.1_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	956	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCAGCATGCGCGAGCTGGT	0.637																																																	0								C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	101	84	90		2833,2866	4.5	0.8	2	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	PLB1	NM_001170585.1,NM_153021.4	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	945/1448,956/1459	28827531	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2866C>T	2.37:g.28827531C>T	ENSP00000330442:p.Arg956Cys		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL	p.R945C	ENST00000327757.5	37	c.2833	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299512	0.60195	0.0	2.33E-4	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.25749	1.78;1.78	5.42	4.52	0.55395	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.814755	0.10945	N	0.616761	T	0.45895	0.1365	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65874	0.899;0.939	T	0.06250	-1.0837	10	0.36615	T	0.2	-3.2672	13.0378	0.58881	0.1623:0.8377:0.0:0.0	.	945;956	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	C	956;945	ENSP00000330442:R956C;ENSP00000416440:R945C	ENSP00000330442:R956C	R	+	1	0	PLB1	28681035	0.331000	0.24713	0.769000	0.31535	0.681000	0.39784	1.723000	0.38053	1.217000	0.43442	0.655000	0.94253	CGC	PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.637	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	-	0	50	0	C			28827531	1	tier1	rs145179606	no_errors	ENST00000422425	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.945	T	T	28827531	C	T	28827531	3	4	87	1	0	0	0	0	1	0	0	0	12063	768	27	1	3061	1	PLB1	2	28827531	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1022787	28827531	214371842	236	23360											
FAM179A	165186	genome.wustl.edu	37	chr2	29240775	29240775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgggcctccctgcccaGcatccccatcagccggcagg	6	4	11	20	2	1	0	1	0	0	0	3	0	3	0	7	3	4	2	7	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:29240775G>T	ENST00000379558.4	+	10	1664	c.1313G>T	c.(1312-1314)aGc>aTc	p.S438I	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	438										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCCCTGCCCAGCATCCCCATC	0.687																																																	0													16	20	19					2																	29240775		1965	4144	6109	SO:0001583	missense	0			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1313G>T	2.37:g.29240775G>T	ENSP00000368876:p.Ser438Ile		Q6ZUF5	Missense_Mutation	SNP	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.S438I	ENST00000379558.4	37	c.1313	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312297	0.23908	.	.	ENSG00000189350	ENST00000379558	T	0.14893	2.47	4.26	2.38	0.29361	.	.	.	.	.	T	0.11324	0.0276	N	0.24115	0.695	0.80722	D	1	P	0.40875	0.731	B	0.38428	0.273	T	0.09185	-1.0686	9	0.56958	D	0.05	.	9.5476	0.39291	0.0811:0.1429:0.776:0.0	.	438	Q6ZUX3	F179A_HUMAN	I	438	ENSP00000368876:S438I	ENSP00000368876:S438I	S	+	2	0	FAM179A	29094279	1.000000	0.71417	0.999000	0.59377	0.012000	0.07955	2.663000	0.46774	0.498000	0.27948	-0.302000	0.09304	AGC	FAM179A	-	NULL	ENSG00000189350		0.687	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	HGNC	protein_coding	OTTHUMT00000317848.4	-	0	34	0	G	NM_199280		29240775	1	tier1	-	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	T	T	29240775	G	T	29240775	3	4	87	1	0	0	0	0	1	0	0	0	5524	971	34	3	1347	3	FAM179A	2	29240775	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	413244	29240775	213958598	237	23361											
ALK	238	genome.wustl.edu	37	chr2	29445225	29445225	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctgatgatcagggctTccatgaggaaatccagttcg	10	12	10	9	1	1	3	1	3	0	0	4	4	3	4	3	2	1	2	3	2	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:29445225T>G	ENST00000389048.3	-	22	4406	c.3500A>C	c.(3499-3501)gAa>gCa	p.E1167A	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1167	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GATCAGGGCTTCCATGAGGAA	0.557			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													85	91	89					2																	29445225		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3500A>C	2.37:g.29445225T>G	ENSP00000373700:p.Glu1167Ala		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1167A	ENST00000389048.3	37	c.3500	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692222	0.88735	.	.	ENSG00000171094	ENST00000389048;ENST00000453137	D;D	0.96587	-4.06;-4.06	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000144	D	0.98720	0.9570	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99744	1.1016	9	.	.	.	.	15.4295	0.75081	0.0:0.0:0.0:1.0	.	1167	Q9UM73	ALK_HUMAN	A	1167;65	ENSP00000373700:E1167A;ENSP00000387488:E65A	.	E	-	2	0	ALK	29298729	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.031000	0.88826	2.049000	0.60858	0.454000	0.30748	GAA	ALK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171094		0.557	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0	42	0	T	NM_004304		29445225	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	21.95	32	9	SNP	1.000	G	G	29445225	T	G	29445225	3	3	87	1	0	0	0	0	1	0	0	0	525	1783	62	4	1394	4	ALK	2	29445225	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	204450	29445225	213754148	238	23362											
CRIM1	51232	genome.wustl.edu	37	chr2	36774266	36774266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcctattcatcaatcaGaagaaacagtggataccact	15	10	6	10	0	3	2	3	0	0	2	4	3	4	3	2	1	2	1	2	1	5	4	rs13419463		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:36774266G>T	ENST00000280527.2	+	16	3253	c.2886G>T	c.(2884-2886)caG>caT	p.Q962H	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	962					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q962H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCATCAATCAGAAGAAACAGT	0.393																																																	1	Substitution - Missense(1)	urinary_tract(1)											95	95	95					2																	36774266		2203	4300	6503	SO:0001583	missense	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"cysteine-rich motor neuron 1"	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2886G>T	2.37:g.36774266G>T	ENSP00000280527:p.Gln962His		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.Q962H	ENST00000280527.2	37	c.2886	CCDS1783.1	2	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507402	0.85282	.	.	ENSG00000150938	ENST00000280527	T	0.04917	3.53	5.81	5.81	0.92471	.	0.182612	0.48767	D	0.000174	T	0.07458	0.0188	L	0.27053	0.805	0.51482	D	0.999927	P	0.46395	0.877	B	0.41723	0.365	T	0.30357	-0.9981	10	0.40728	T	0.16	-7.2377	19.0666	0.93114	0.0:0.0:1.0:0.0	.	962	Q9NZV1	CRIM1_HUMAN	H	962	ENSP00000280527:Q962H	ENSP00000280527:Q962H	Q	+	3	2	CRIM1	36627770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.709000	0.61867	2.736000	0.93811	0.655000	0.94253	CAG	CRIM1	-	NULL	ENSG00000150938		0.393	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2		0	40	0	G	NM_016441		36774266	1			no_errors	ENST00000280527	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	36774266	G	T	36774266	3	4	87	1	0	0	0	0	1	0	0	0	3880	933	33	3	2948	3	CRIM1	2	36774266	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7329041	36774266	206425107	239	23363											
DHX57	90957	genome.wustl.edu	37	chr2	39089427	39089427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccagtaccgctcatcGttacagcaatcaggctcatc	9	9	9	14	2	3	0	3	0	0	0	5	0	3	0	2	2	3	6	2	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:39089427G>A	ENST00000295373.6	-	4	558	c.432C>T	c.(430-432)aaC>aaT	p.N144N	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	144							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACCGCTCATCGTTACAGCAAT	0.468																																					Melanoma(191;1090 2095 4375 23729 47341)												0													99	87	91					2																	39089427		2203	4300	6503	SO:0001819	synonymous_variant	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"DEAH-boxes"	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.432C>T	2.37:g.39089427G>A			A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Silent	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N144	ENST00000295373.6	37	c.432	CCDS1800.1	2																																																																																			DHX57	-	NULL	ENSG00000163214		0.468	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	-	0	45	0	G	NM_145646		39089427	-1	tier1	-	no_errors	ENST00000295373	ensembl	human	known	74_37	silent	18.60	35	8	SNP	0.943	A	A	39089427	G	A	39089427	2	1	87	1	0	0	0	0	0	0	0	1	4527	1136	40	1		1	DHX57	2	39089427	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2315161	39089427	204109946	240	23364											
SLC8A1	6546	genome.wustl.edu	37	chr2	40657337	40657337	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaattacatggtccacatgGgaaaataagagactcacagt	16	8	9	8	0	1	1	1	0	0	1	2	3	2	2	1	2	1	1	1	2	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:40657337G>T	ENST00000403092.1	-	2	117	c.84C>A	c.(82-84)tcC>tcA	p.S28S	SLC8A1_ENST00000332839.4_Silent_p.S28S|SLC8A1_ENST00000408028.2_Silent_p.S28S|SLC8A1_ENST00000405901.3_Silent_p.S28S|SLC8A1_ENST00000542024.1_Silent_p.S28S|SLC8A1_ENST00000406785.2_Silent_p.S28S|SLC8A1_ENST00000406391.2_Silent_p.S28S|SLC8A1_ENST00000405269.1_Silent_p.S28S|SLC8A1_ENST00000402441.1_Silent_p.S28S|SLC8A1_ENST00000542756.1_Silent_p.S28S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	28					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTCCACATGGGAAAATAAGA	0.403																																																	0													106	105	105					2																	40657337		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"Solute carriers"	11068	protein-coding gene	gene with protein product	"Na+/Ca++ exchanger"	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.84C>A	2.37:g.40657337G>T			A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.S28	ENST00000403092.1	37	c.84	CCDS1806.1	2																																																																																			SLC8A1	-	prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	ENSG00000183023		0.403	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1	-	0	32	0	G	NM_021097		40657337	-1	tier1	-	no_errors	ENST00000332839	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.997	T	T	40657337	G	T	40657337	2	4	87	1	0	0	0	0	0	0	0	1	14751	1219	43	3		3	SLC8A1	2	40657337	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1567910	40657337	202542036	241	23365											
PKDCC	91461	genome.wustl.edu	37	chr2	42280450	42280450	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatcacggagctgggcgcCcctgtagaaatgatccagct	10	7	11	13	2	1	2	1	1	0	1	2	3	2	3	4	2	2	3	4	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:42280450C>G	ENST00000294964.5	+	2	891	c.711C>G	c.(709-711)gcC>gcG	p.A237A		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						AGCTGGGCGCCCCTGTAGAAA	0.602																																																	0													127	124	125					2																	42280450		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.711C>G	2.37:g.42280450C>G				Silent	SNP	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.A237	ENST00000294964.5	37	c.711	CCDS33186.2	2																																																																																			PKDCC	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000162878		0.602	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	-	0	51	0	C			42280450	1	tier1	-	no_errors	ENST00000294964	ensembl	human	known	74_37	silent	16.07	47	9	SNP	0.994	G	G	42280450	C	G	42280450	2	3	87	1	0	0	0	0	0	0	0	1	12008	610	22	5		5	PKDCC	2	42280450	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1623113	42280450	200918923	242	23366											
EML4	27436	genome.wustl.edu	37	chr2	42511825	42511825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactggacagatagctggCgtggataaagatggaagggt	13	7	16	5	1	0	2	0	0	0	2	0	5	0	5	0	5	2	2	0	5	5	2	rs566921568	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:42511825C>T	ENST00000318522.5	+	9	1255	c.993C>T	c.(991-993)ggC>ggT	p.G331G	EML4_ENST00000401738.3_Silent_p.G342G|EML4_ENST00000402711.2_Silent_p.G273G	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	331					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)		p.G331G(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGATAGCTGGCGTGGATAAAG	0.378			T	ALK	NSCLC								C|||	2	0.000399361	0	0	5008	,	,		17034	0		0	False		,,,				2504	0.002							Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	1	Substitution - coding silent(1)	lung(1)											169	160	163					2																	42511825		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.993C>T	2.37:g.42511825C>T			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G331	ENST00000318522.5	37	c.993	CCDS1807.1	2																																																																																			EML4	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat	ENSG00000143924		0.378	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	73	0	C	NM_019063		42511825	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	14.67	64	11	SNP	1.000	T	T	42511825	C	T	42511825	2	4	87	1	0	0	0	0	0	0	0	1	5115	755	27	1		1	EML4	2	42511825	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	231375	42511825	200687548	243	23367											
EML4	27436	genome.wustl.edu	37	chr2	42557031	42557031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagaatgagactgtagCggatactactctaaccaaag	14	8	9	10	1	2	2	1	1	1	2	2	4	2	3	2	1	4	1	2	1	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:42557031C>T	ENST00000318522.5	+	23	2892	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V	EML4_ENST00000401738.3_Missense_Mutation_p.A888V|EML4_ENST00000402711.2_Missense_Mutation_p.A819V|EML4_ENST00000453191.2_Missense_Mutation_p.A141V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	877					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GAGACTGTAGCGGATACTACT	0.453			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													160	154	156					2																	42557031		2203	4300	6503	SO:0001583	missense	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2630C>T	2.37:g.42557031C>T	ENSP00000320663:p.Ala877Val		A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A877V	ENST00000318522.5	37	c.2630	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	C	14.38	2.519604	0.44866	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738;ENST00000453191	T;T;T;T	0.42900	1.15;1.2;1.2;0.96	5.37	3.46	0.39613	.	0.741479	0.12750	N	0.442231	T	0.21022	0.0506	N	0.08118	0	0.09310	N	1	B;B;B;B	0.09022	0.001;0.0;0.002;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.12502	-1.0545	10	0.31617	T	0.26	-0.1855	6.3227	0.21227	0.0:0.5905:0.0:0.4095	.	819;819;888;877	A6H8Y6;B5MCW9;B5MBZ0;Q9HC35	.;.;.;EMAL4_HUMAN	V	877;819;888;141	ENSP00000320663:A877V;ENSP00000385059:A819V;ENSP00000384939:A888V;ENSP00000400590:A141V	ENSP00000320663:A877V	A	+	2	0	EML4	42410535	0.000000	0.05858	0.002000	0.10522	0.761000	0.43186	0.646000	0.24797	1.311000	0.45024	0.655000	0.94253	GCG	EML4	-	NULL	ENSG00000143924		0.453	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	53	0	C	NM_019063		42557031	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.000	T	T	42557031	C	T	42557031	3	4	87	1	0	0	0	0	1	0	0	0	5115	768	27	1	2720	1	EML4	2	42557031	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	45206	42557031	200642342	244	23368											
ABCG8	64241	genome.wustl.edu	37	chr2	44101062	44101062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcatggatacagccGccctcttgttcatgatcggt	6	14	8	13	2	4	1	2	1	2	0	6	2	4	2	3	2	2	1	3	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:44101062G>A	ENST00000272286.2	+	9	1438	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	450	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGATACAGCCGCCCTCTTGTT	0.552																																																	0													255	243	247					2																	44101062		2203	4300	6503	SO:0001583	missense	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1348G>A	2.37:g.44101062G>A	ENSP00000272286:p.Ala450Thr		Q53QN8	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	p.A450T	ENST00000272286.2	37	c.1348	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788610	0.70337	.	.	ENSG00000143921	ENST00000272286	T	0.72394	-0.65	5.4	4.46	0.54185	ABC-2 type transporter (1);	0.147761	0.64402	D	0.000010	T	0.81814	0.4902	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68039	0.925;0.955	D	0.83939	0.0310	10	0.72032	D	0.01	.	14.9112	0.70758	0.0:0.0:0.8563:0.1437	.	449;450	Q9H221-2;Q9H221	.;ABCG8_HUMAN	T	450	ENSP00000272286:A450T	ENSP00000272286:A450T	A	+	1	0	ABCG8	43954566	1.000000	0.71417	0.952000	0.39060	0.328000	0.28507	4.849000	0.62882	2.536000	0.85505	0.561000	0.74099	GCC	ABCG8	-	pfam_ABC_2_trans	ENSG00000143921		0.552	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	-	0	45	0	G	NM_022437		44101062	1	tier1	-	no_errors	ENST00000272286	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.997	A	A	44101062	G	A	44101062	3	1	87	1	0	0	0	0	1	0	0	0	72	1087	38	1	1382	1	ABCG8	2	44101062	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1544031	44101062	199098311	245	23369											
EPAS1	2034	genome.wustl.edu	37	chr2	46608780	46608780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagacgtgctgagtccGgccatggtagccctctccaa	7	7	12	15	2	1	2	0	1	1	1	3	2	2	2	5	3	2	2	5	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:46608780G>A	ENST00000263734.3	+	13	2601	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	697					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTGAGTCCGGCCATGGTAG	0.607																																																	0													54	54	54					2																	46608780		2203	4300	6503	SO:0001819	synonymous_variant	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2091G>A	2.37:g.46608780G>A			Q86VA2|Q99630	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.P697	ENST00000263734.3	37	c.2091	CCDS1825.1	2																																																																																			EPAS1	-	NULL	ENSG00000116016		0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0	48	0	G	NM_001430		46608780	1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	silent	15.25	50	9	SNP	0.090	A	A	46608780	G	A	46608780	2	1	87	1	0	0	0	0	0	0	0	1	5166	1103	39	1		1	EPAS1	2	46608780	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2507718	46608780	196590593	246	23370											
MSH6	2956	genome.wustl.edu	37	chr2	48032796	48032796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattaagtgaaactgccaGcatactcatgcatgcaacag	15	9	8	9	0	1	2	1	2	0	0	1	2	1	2	1	0	7	3	1	0	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:48032796G>A	ENST00000234420.5	+	7	3748	c.3596G>A	c.(3595-3597)aGc>aAc	p.S1199N	MSH6_ENST00000540021.1_Missense_Mutation_p.S1069N|MSH6_ENST00000538136.1_Missense_Mutation_p.S897N|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1199					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACTGCCAGCATACTCATG	0.294			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											93	95	94					2																	48032796		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3596G>A	2.37:g.48032796G>A	ENSP00000234420:p.Ser1199Asn		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.S1199N	ENST00000234420.5	37	c.3596	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317779	0.81469	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.85339	-1.97;-1.97;-1.97	5.05	5.05	0.67936	DNA mismatch repair protein MutS, C-terminal (2);	0.037532	0.85682	D	0.000000	T	0.81692	0.4876	N	0.13043	0.29	0.80722	D	1	P;P	0.42248	0.774;0.774	B;P	0.48089	0.345;0.566	D	0.83705	0.0184	10	0.51188	T	0.08	-16.555	18.6051	0.91263	0.0:0.0:1.0:0.0	.	1069;1199	B4DF41;P52701	.;MSH6_HUMAN	N	1199;165;1069;897	ENSP00000234420:S1199N;ENSP00000446475:S1069N;ENSP00000438580:S897N	ENSP00000234420:S1199N	S	+	2	0	MSH6	47886300	1.000000	0.71417	0.996000	0.52242	0.804000	0.45430	9.477000	0.97925	2.622000	0.88805	0.462000	0.41574	AGC	MSH6	-	pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.294	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0	187	0	G	NM_000179		48032796	1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	16.97	137	28	SNP	1.000	A	A	48032796	G	A	48032796	3	1	87	1	0	0	0	0	1	0	0	0	9912	971	34	3	3622	3	MSH6	2	48032796	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1424016	48032796	195166577	247	23371											
FSHR	2492	genome.wustl.edu	37	chr2	49190770	49190770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttgcacataaggaacctgGggactgtgagtttatattgg	10	12	14	5	0	0	1	0	1	0	0	0	3	0	3	1	5	2	3	1	5	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:49190770G>A	ENST00000406846.2	-	10	1309	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	FSHR_ENST00000541117.1_Missense_Mutation_p.P133L|FSHR_ENST00000346173.3_Missense_Mutation_p.P335L|FSHR_ENST00000304421.4_Missense_Mutation_p.P371L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	397					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAGGAACCTGGGGACTGTGAG	0.458									Gonadal Dysgenesis, 46 XX																																								0													129	127	128					2																	49190770		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1190C>T	2.37:g.49190770G>A	ENSP00000384708:p.Pro397Leu		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.P397L	ENST00000406846.2	37	c.1190	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937352	0.73557	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89483	0.6728	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88716	0.3226	9	.	.	.	.	18.3052	0.90177	0.0:0.0:1.0:0.0	.	371;335;397	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	397;335;371;133	ENSP00000384708:P397L;ENSP00000333908:P335L;ENSP00000306780:P371L;ENSP00000444172:P133L	.	P	-	2	0	FSHR	49044274	1.000000	0.71417	0.996000	0.52242	0.764000	0.43329	9.657000	0.98554	2.801000	0.96364	0.655000	0.94253	CCC	FSHR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	ENSG00000170820		0.458	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	-	0	37	0	G			49190770	-1	tier1	-	no_errors	ENST00000406846	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	49190770	G	A	49190770	3	1	87	1	0	0	0	0	1	0	0	0	6097	1232	43	3	901	3	FSHR	2	49190770	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1157974	49190770	194008603	248	23372											
NRXN1	9378	genome.wustl.edu	37	chr2	50574009	50574011	+	Intron	DEL	CGC	CGC	-																															cagggccaggcgcccccctgCgccgccgccgccgccgccgc																								rs113067443|rs532881721		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:50574009_50574011delCGC	ENST00000406316.2	-	18	4841				NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000342183.5_In_Frame_Del_p.G26del|NRXN1_ENST00000404971.1_Intron|NRXN1_ENST00000401710.1_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGCCCCCCTGcgccgccgccgcc	0.768																																																	0																																										SO:0001627	intron_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109901GCG>-	2.37:g.50574018_50574020delCGC			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	In_Frame_Del	DEL	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G	p.G26in_frame_del	ENST00000406316.2	37	c.79_77	CCDS54360.1	2																																																																																			NRXN1	-	NULL	ENSG00000179915		0.768	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2		0	14	0	CGC			50574011	-1	tier1		no_errors	ENST00000342183	ensembl	human	known	74_37	in_frame_del	23.81	16	5	DEL	0.998:0.997:0.996	-	-	50574011	CGC	-	50574009	6	5	87	0	1	1	0	1	0	0	0	0	10704	768	27	0		0	NRXN1	2	50574009	Intron	DEL	CGC	TCGA-L5-A8NM-01A-11D-A37C-09	1383239	50574009	192625364	249	23373											
RTN4	57142	genome.wustl.edu	37	chr2	55209688	55209688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcaactaagaagaggCgcctgagttcctttatcgtg	12	11	9	9	2	2	3	2	1	0	2	4	3	3	3	2	1	1	1	2	1	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:55209688C>T	ENST00000337526.6	-	5	3566	c.3323G>A	c.(3322-3324)cGc>cAc	p.R1108H	RTN4_ENST00000405240.1_Missense_Mutation_p.R902H|RTN4_ENST00000357732.4_Missense_Mutation_p.R308H|RTN4_ENST00000394609.2_Missense_Mutation_p.R115H|RTN4_ENST00000402434.2_Missense_Mutation_p.R261H|RTN4_ENST00000394611.2_Missense_Mutation_p.R902H|RTN4_ENST00000317610.7_Missense_Mutation_p.R289H|RTN4_ENST00000486085.1_5'UTR|RTN4_ENST00000357376.3_Missense_Mutation_p.R902H|RTN4_ENST00000354474.6_Missense_Mutation_p.R876H|RTN4_ENST00000404909.1_Missense_Mutation_p.R902H	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1108	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TAAGAAGAGGCGCCTGAGTTC	0.378																																																	0													85	80	81					2																	55209688		2203	4300	6503	SO:0001583	missense	0			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3323G>A	2.37:g.55209688C>T	ENSP00000337838:p.Arg1108His		O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.R1108H	ENST00000337526.6	37	c.3323	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784557	0.70222	.	.	ENSG00000115310	ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.84	4.95	0.65309	.	0.093699	0.85682	D	0.000000	T	0.59878	0.2226	L	0.41573	1.285	0.80722	D	1	P;P;D;B	0.89917	0.762;0.827;1.0;0.348	P;B;D;B	0.91635	0.545;0.41;0.999;0.243	T	0.58375	-0.7647	10	0.49607	T	0.09	-5.9866	15.3424	0.74309	0.0:0.9319:0.0:0.0681	.	289;308;1108;115	Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.;.;RTN4_HUMAN;.	H	115;902;902;1108;289;308;902;902;261;876	ENSP00000378107:R115H;ENSP00000384471:R902H;ENSP00000349944:R902H;ENSP00000337838:R1108H;ENSP00000322147:R289H;ENSP00000350365:R308H;ENSP00000378109:R902H;ENSP00000385650:R902H;ENSP00000384825:R261H;ENSP00000346465:R876H	ENSP00000322147:R289H	R	-	2	0	RTN4	55063192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.002000	0.70693	2.758000	0.94735	0.591000	0.81541	CGC	RTN4	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000115310		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	-	0	56	0	C			55209688	-1	tier1	-	no_errors	ENST00000337526	ensembl	human	known	74_37	missense	17.65	42	9	SNP	1.000	T	T	55209688	C	T	55209688	3	4	87	1	0	0	0	0	1	0	0	0	13773	768	27	1	275	1	RTN4	2	55209688	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4635679	55209688	187989685	250	23374											
MTIF2	4528	genome.wustl.edu	37	chr2	55476628	55476628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcactttctcaggatcaGcctcagctttgtcacattta	8	17	5	11	0	5	0	5	0	1	0	6	1	5	1	1	1	2	1	1	1	1	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:55476628G>A	ENST00000263629.4	-	9	1199	c.884C>T	c.(883-885)gCt>gTt	p.A295V	MTIF2_ENST00000394600.3_Missense_Mutation_p.A295V|MTIF2_ENST00000403721.1_Missense_Mutation_p.A295V	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	295	tr-type G.				formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTCAGGATCAGCCTCAGCTTT	0.413																																																	0													230	201	211					2																	55476628		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.884C>T	2.37:g.55476628G>A	ENSP00000263629:p.Ala295Val		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.A295V	ENST00000263629.4	37	c.884	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022582	0.93462	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823;ENST00000535023	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.9	5.9	0.94986	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	L	0.48174	1.505	0.80722	D	1	P	0.47762	0.9	P	0.53450	0.726	T	0.78283	-0.2264	10	0.87932	D	0	-18.2176	20.282	0.98514	0.0:0.0:1.0:0.0	.	295	P46199	IF2M_HUMAN	V	295;295;295;15;295	ENSP00000384481:A295V;ENSP00000263629:A295V;ENSP00000378099:A295V;ENSP00000403492:A15V	ENSP00000263629:A295V	A	-	2	0	MTIF2	55330132	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.648000	0.83479	2.786000	0.95864	0.563000	0.77884	GCT	MTIF2	-	pfam_EF_GTP-bd_dom,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom	ENSG00000085760		0.413	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0	71	0	G	NM_002453		55476628	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	missense	24.39	62	20	SNP	1.000	A	A	55476628	G	A	55476628	3	1	87	1	0	0	0	0	1	0	0	0	9972	971	34	3	1331	3	MTIF2	2	55476628	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	266940	55476628	187722745	251	23375											
C2orf86	51057	genome.wustl.edu	37	chr2	63631702	63631702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctctttgtctacacttaCggagtgctccactgtgaaca	8	12	10	11	1	2	1	0	1	2	0	3	2	3	2	1	2	4	2	1	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:63631702C>T	ENST00000272321.7	-	10	1443	c.916G>A	c.(916-918)Gta>Ata	p.V306I	WDPCP_ENST00000409120.1_Missense_Mutation_p.V114I|WDPCP_ENST00000409199.1_Missense_Mutation_p.V114I|WDPCP_ENST00000409562.3_Missense_Mutation_p.V306I|WDPCP_ENST00000398544.3_Missense_Mutation_p.V147I|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	306					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TCTACACTTACGGAGTGCTCC	0.468																																																	0													95	87	89					2																	63631702		1977	4159	6136	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.916G>A	2.37:g.63631702C>T	ENSP00000272321:p.Val306Ile		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.V306I	ENST00000272321.7	37	c.916	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	4.819	0.152185	0.09185	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.44	-1.86	0.07760	.	0.691675	0.14880	N	0.293012	T	0.11452	0.0279	N	0.01352	-0.895	0.20873	N	0.999832	B;B;B;B	0.16396	0.004;0.0;0.017;0.004	B;B;B;B	0.14578	0.003;0.0;0.011;0.001	T	0.30297	-0.9983	10	0.13470	T	0.59	1.2834	4.9829	0.14175	0.2953:0.3349:0.0:0.3698	.	114;306;306;147	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	I	306;114;114;147;306	ENSP00000272321:V306I;ENSP00000386592:V114I;ENSP00000386769:V114I;ENSP00000381552:V147I;ENSP00000387222:V306I	ENSP00000272321:V306I	V	-	1	0	WDPCP	63485206	0.219000	0.23619	0.683000	0.30040	0.776000	0.43924	-0.407000	0.07178	-0.476000	0.06842	-0.383000	0.06682	GTA	WDPCP	-	pfam_DUF3312	ENSG00000143951		0.468	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	-	0	48	0	C	NM_015910		63631702	-1	tier1	-	no_errors	ENST00000272321	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.612	T	T	63631702	C	T	63631702	3	4	87	1	0	0	0	0	1	0	0	0	2208	536	19	1	1360	1	C2orf86	2	63631702	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	8155074	63631702	179567671	252	23376											
PELI1	57162	genome.wustl.edu	37	chr2	64323617	64323617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaagggaggattccgtTcacatatgattctgcaggca	11	11	11	8	1	2	1	1	1	1	0	3	3	3	3	1	3	1	4	1	3	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:64323617T>C	ENST00000358912.4	-	5	873	c.431A>G	c.(430-432)gAa>gGa	p.E144G		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	144					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|protein K48-linked ubiquitination (GO:0070936)|response to dsRNA (GO:0043331)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						AGGATTCCGTTCACATATGAT	0.373																																																	0													108	101	104					2																	64323617		2203	4300	6503	SO:0001583	missense	0				CCDS1876.1	2p13.3	2012-02-23	2012-02-23		ENSG00000197329	ENSG00000197329		"Pellino homologs"	8827	protein-coding gene	gene with protein product		614797	"pellino (Drosophila) homolog 1", "pellino homolog 1 (Drosophila)"			11306823, 16951688	Standard	NM_020651		Approved		uc002sct.4	Q96FA3	OTTHUMG00000129511	ENST00000358912.4:c.431A>G	2.37:g.64323617T>C	ENSP00000351789:p.Glu144Gly		Q96SM0|Q9GZY5|Q9HCX0	Missense_Mutation	SNP	pfam_Pellino_fam	p.E144G	ENST00000358912.4	37	c.431	CCDS1876.1	2	.	.	.	.	.	.	.	.	.	.	T	18.45	3.625996	0.66901	.	.	ENSG00000197329	ENST00000358912	T	0.50548	0.74	5.5	5.5	0.81552	.	0.142496	0.64402	D	0.000006	T	0.50820	0.1638	M	0.61703	1.905	0.49213	D	0.999763	B	0.33841	0.428	B	0.37198	0.243	T	0.55742	-0.8093	10	0.72032	D	0.01	-17.3424	15.9138	0.79496	0.0:0.0:0.0:1.0	.	144	Q96FA3	PELI1_HUMAN	G	144	ENSP00000351789:E144G	ENSP00000351789:E144G	E	-	2	0	PELI1	64177121	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.086000	0.71352	2.216000	0.71823	0.533000	0.62120	GAA	PELI1	-	pfam_Pellino_fam	ENSG00000197329		0.373	PELI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI1	HGNC	protein_coding	OTTHUMT00000251686.1	-	0	32	0	T	NM_020651		64323617	-1	tier1	-	no_errors	ENST00000358912	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	C	C	64323617	T	C	64323617	3	2	87	1	0	0	0	0	1	0	0	0	11760	1783	62	4	837	4	PELI1	2	64323617	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	691915	64323617	178875756	253	23377											
SNRNP27	11017	genome.wustl.edu	37	chr2	70122235	70122235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcattagaacgtaggcGttcccggtccacatcccggg	7	10	12	12	4	0	1	0	0	0	1	3	1	3	1	3	3	2	4	3	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:70122235G>A	ENST00000244227.3	+	2	469	c.44G>A	c.(43-45)cGt>cAt	p.R15H	SNRNP27_ENST00000409116.1_Missense_Mutation_p.R15H	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	15	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAACGTAGGCGTTCCCGGTCC	0.532																																																	0													111	124	119					2																	70122235		2203	4300	6503	SO:0001583	missense	0			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"nucleic acid binding protein RY 1"					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.44G>A	2.37:g.70122235G>A	ENSP00000244227:p.Arg15His		Q15410	Missense_Mutation	SNP	pfam_DUF1777	p.R15H	ENST00000244227.3	37	c.44	CCDS33219.1	2	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709302	0.68615	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.42900	0.96;0.96	4.22	4.22	0.49857	Domain of unknown function DUF1777 (1);	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.954	T	0.54636	-0.8264	10	0.35671	T	0.21	.	14.454	0.67404	0.0:0.0:1.0:0.0	.	15;15	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	H	15	ENSP00000244227:R15H;ENSP00000386608:R15H	ENSP00000244227:R15H	R	+	2	0	SNRNP27	69975739	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	7.287000	0.78681	2.335000	0.79485	0.462000	0.41574	CGT	SNRNP27	-	pfam_DUF1777	ENSG00000124380		0.532	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP27	HGNC	protein_coding	OTTHUMT00000327369.1	-	0	53	0	G	NM_006857		70122235	1	tier1	-	no_errors	ENST00000244227	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	A	A	70122235	G	A	70122235	3	1	87	1	0	0	0	0	1	0	0	0	14899	1145	40	1	50	1	SNRNP27	2	70122235	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5798618	70122235	173077138	254	23378											
ATP6V1B1	525	genome.wustl.edu	37	chr2	71191573	71191573	+	Frame_Shift_Del	DEL	C	C	-																															tttcttctccctcagatctaCccccccatcaacgtgctccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:71191573delC	ENST00000234396.4	+	12	1222	c.1149delC	c.(1147-1149)tacfs	p.Y383fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.Y366fs|RN7SL160P_ENST00000468558.2_RNA|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	383					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CTCAGATCTACCCCCCCATCA	0.547											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95	90	92					2																	71191573		2203	4300	6503	SO:0001589	frameshift_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"ATPases / V-type"	853	protein-coding gene	gene with protein product	"Renal tubular acidosis with deafness"	192132	"vacuolar proton pump 3"	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.1149delC	2.37:g.71191573delC	ENSP00000234396:p.Tyr383fs	1128	Q53FY0|Q6P4H6	Frame_Shift_Del	DEL	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu	p.I386fs	ENST00000234396.4	37	c.1149	CCDS1912.1	2																																																																																			ATP6V1B1	-	pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu	ENSG00000116039		0.547	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1B1	HGNC	protein_coding	OTTHUMT00000251920.2		0	35	0	C	NM_001692		71191573	1	tier1		no_errors	ENST00000234396	ensembl	human	known	74_37	frame_shift_del	13.33	39	6	DEL	0.999	-	-	71191573	C	-	71191573	7	5	87	1	0	1	0	1	0	0	0	0	1179	518	18	0	1195	0	ATP6V1B1	2	71191573	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1069338	71191573	172007800	255	23379											
DYSF	8291	genome.wustl.edu	37	chr2	71681137	71681137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacgcgccaagcatgctgagGgtcttcatcctctatgccga	8	9	10	14	3	3	1	1	1	2	0	4	2	4	1	3	1	3	2	3	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:71681137G>A	ENST00000258104.3	+	1	286	c.9G>A	c.(7-9)agG>agA	p.R3R	DYSF_ENST00000409762.1_Silent_p.R3R|DYSF_ENST00000413539.2_Silent_p.R3R|DYSF_ENST00000409582.3_Silent_p.R3R|DYSF_ENST00000429174.2_Silent_p.R3R	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	3	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCATGCTGAGGGTCTTCATCC	0.667																																																	0													62	51	55					2																	71681137		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.9G>A	2.37:g.71681137G>A			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R3	ENST00000258104.3	37	c.9	CCDS1918.1	2																																																																																			DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000135636		0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	94	0	G	NM_003494		71681137	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	6.19	91	6	SNP	1.000	A	A	71681137	G	A	71681137	2	1	87	1	0	0	0	0	0	0	0	1	4873	1223	43	3		3	DYSF	2	71681137	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	489564	71681137	171518236	256	23380											
ALMS1	7840	genome.wustl.edu	37	chr2	73677340	73677340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagctgaccagaagaCtgggacaccaactccaacct	13	5	9	14	0	0	3	0	1	0	2	1	5	1	5	5	2	3	1	5	2	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:73677340C>T	ENST00000264448.6	+	8	3794	c.3683C>T	c.(3682-3684)aCt>aTt	p.T1228I	ALMS1_ENST00000377715.1_Missense_Mutation_p.T1228I|ALMS1_ENST00000409009.1_Missense_Mutation_p.T1186I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1228	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGAAGACTGGGACACCA	0.468																																																	0													96	98	97					2																	73677340		1888	4107	5995	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.3683C>T	2.37:g.73677340C>T	ENSP00000264448:p.Thr1228Ile		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.T1228I	ENST00000264448.6	37	c.3683	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907890	0.52333	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14766	3.37;3.37;2.48	4.41	1.5	0.22942	.	1.646820	0.03100	N	0.161010	T	0.28764	0.0713	L	0.46157	1.445	0.09310	N	1	D;D;P	0.89917	0.999;1.0;0.886	D;D;P	0.77004	0.973;0.989;0.612	T	0.06844	-1.0804	10	0.44086	T	0.13	.	4.5175	0.11943	0.0:0.6141:0.1838:0.2021	.	1228;1186;1228	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	I	1186;1228;1228	ENSP00000386627:T1186I;ENSP00000264448:T1228I;ENSP00000366944:T1228I	ENSP00000264448:T1228I	T	+	2	0	ALMS1	73530848	0.010000	0.17322	0.001000	0.08648	0.571000	0.35966	-0.023000	0.12456	0.324000	0.23333	0.655000	0.94253	ACT	ALMS1	-	NULL	ENSG00000116127		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0	36	0	C	NM_015120		73677340	1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.001	T	T	73677340	C	T	73677340	3	4	87	1	0	0	0	0	1	0	0	0	535	565	20	3	3713	3	ALMS1	2	73677340	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1996203	73677340	169522033	257	23381											
MOBKL1B	55233	genome.wustl.edu	37	chr2	74392409	74392409	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaagtcatcaaatagtcAatgtattttggtgcagaaca	15	11	7	8	0	3	1	3	0	0	1	3	1	3	1	1	1	2	2	1	1	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:74392409A>G	ENST00000396049.4	-	4	538	c.345T>C	c.(343-345)atT>atC	p.I115I	MOB1A_ENST00000497054.1_5'UTR|MOB1A_ENST00000409969.2_Silent_p.I115I	NM_018221.3	NP_060691.2	Q9H8S9	MOB1A_HUMAN	MOB kinase activator 1A	115					hippo signaling (GO:0035329)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)										TCAAATAGTCAATGTATTTTG	0.308																																																	0													64	62	62					2																	74392409		1837	4080	5917	SO:0001819	synonymous_variant	0				CCDS46340.1	2p13.1	2011-09-28	2011-09-28	2011-09-27	ENSG00000114978	ENSG00000114978		"MOB kinase activators"	16015	protein-coding gene	gene with protein product		609281	"chromosome 2 open reading frame 6", "MOB1, Mps One Binder kinase activator-like 1B (yeast)", "MOB1 Mps One Binder homolog A (yeast)"	C2orf6, MOBK1B, MOBKL1B		11319234, 20624913	Standard	NM_018221		Approved	FLJ10788, MOB1, FLJ11595, Mob4B, Mats1	uc002skh.4	Q9H8S9	OTTHUMG00000152833	ENST00000396049.4:c.345T>C	2.37:g.74392409A>G			Q53S34|Q9H3T5|Q9HAI0|Q9NVE2	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.I115	ENST00000396049.4	37	c.345	CCDS46340.1	2																																																																																			MOB1A	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000114978		0.308	MOB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1A	HGNC	protein_coding	OTTHUMT00000328200.2	-	0	73	0	A	NM_018221		74392409	-1	tier1	-	no_errors	ENST00000396049	ensembl	human	known	74_37	silent	33.33	32	16	SNP	1.000	G	G	74392409	A	G	74392409	2	3	87	1	0	0	0	0	0	0	0	1	9721	126	5	4		4	MOBKL1B	2	74392409	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	715069	74392409	168806964	258	23382											
HTRA2	27429	genome.wustl.edu	37	chr2	74757418	74757418	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccaggacccgggaggcCtcagagaactctggaacccg	11	4	13	13	2	2	1	1	0	1	1	2	6	2	4	4	4	3	0	4	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:74757418C>A	ENST00000258080.3	+	1	915	c.285C>A	c.(283-285)gcC>gcA	p.A95A	AUP1_ENST00000377526.3_5'Flank|HTRA2_ENST00000352222.3_Silent_p.A95A|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	95					adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CCCGGGAGGCCTCAGAGAACT	0.697																																																	0													10	13	12					2																	74757418		2180	4287	6467	SO:0001819	synonymous_variant	0				CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"Serine peptidases / Serine peptidases", "Parkinson disease"	14348	protein-coding gene	gene with protein product		606441	"protease, serine, 25"	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.285C>A	2.37:g.74757418C>A			Q9HBZ4|Q9P0Y3|Q9P0Y4	Silent	SNP	pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.A95	ENST00000258080.3	37	c.285	CCDS1951.1	2																																																																																			HTRA2	-	NULL	ENSG00000115317		0.697	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA2	HGNC	protein_coding	OTTHUMT00000252219.2	-	0	55	0	C	NM_013247		74757418	1	tier1	-	no_errors	ENST00000258080	ensembl	human	known	74_37	silent	13.73	44	7	SNP	0.006	A	A	74757418	C	A	74757418	2	1	87	1	0	0	0	0	0	0	0	1	7481	668	24	3		3	HTRA2	2	74757418	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	365009	74757418	168441955	259	23383											
KDM3A	55818	genome.wustl.edu	37	chr2	86684136	86684136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaattggagctgtaaaacGcaagtcttctgagaataatg	16	10	10	5	1	2	2	0	1	2	2	2	4	2	3	0	1	2	3	0	1	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:86684136G>A	ENST00000409556.1	+	9	1150	c.785G>A	c.(784-786)cGc>cAc	p.R262H	KDM3A_ENST00000409064.1_Missense_Mutation_p.R262H|KDM3A_ENST00000542128.1_Missense_Mutation_p.R210H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R262H			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	262					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GCTGTAAAACGCAAGTCTTCT	0.363																																					NSCLC(96;1150 1523 6936 46253 49736)												0													56	56	56					2																	86684136		2203	4300	6503	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.785G>A	2.37:g.86684136G>A	ENSP00000386660:p.Arg262His		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R262H	ENST00000409556.1	37	c.785	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518249	0.85495	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.65916	-0.16;-0.16;-0.16;-0.18	5.61	5.61	0.85477	.	0.072482	0.56097	D	0.000036	T	0.76047	0.3933	L	0.57536	1.79	0.44030	D	0.996756	D;P	0.89917	1.0;0.903	D;P	0.87578	0.998;0.541	T	0.77720	-0.2482	10	0.87932	D	0	.	15.1448	0.72641	0.0:0.0:1.0:0.0	.	210;262	F5H070;Q9Y4C1	.;KDM3A_HUMAN	H	262;262;262;262;210	ENSP00000386660:R262H;ENSP00000323659:R262H;ENSP00000386516:R262H;ENSP00000438324:R210H	ENSP00000323659:R262H	R	+	2	0	KDM3A	86537647	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	5.391000	0.66266	2.627000	0.88993	0.561000	0.74099	CGC	KDM3A	-	NULL	ENSG00000115548		0.363	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	-	0	63	0	G	NM_018433		86684136	1	tier1	-	no_errors	ENST00000312912	ensembl	human	known	74_37	missense	16.67	55	11	SNP	0.998	A	A	86684136	G	A	86684136	3	1	87	1	0	0	0	0	1	0	0	0	8153	1087	38	1	811	1	KDM3A	2	86684136	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	11926718	86684136	156515237	260	23384											
TRIM43	129868	genome.wustl.edu	37	chr2	96262110	96262110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaaatggatcaaaagaGtaaacacttgaaagaaatgt	20	8	9	4	0	2	3	2	1	0	2	2	4	2	4	0	2	1	1	0	2	8	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:96262110G>T	ENST00000272395.2	+	4	804	c.668G>T	c.(667-669)aGt>aTt	p.S223I		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	223						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GATCAAAAGAGTAAACACTTG	0.398																																																	0													17	18	17					2																	96262110		2150	4237	6387	SO:0001583	missense	0			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19015	protein-coding gene	gene with protein product			"tripartite motif-containing 43"				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.668G>T	2.37:g.96262110G>T	ENSP00000272395:p.Ser223Ile		Q53TJ7	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S223I	ENST00000272395.2	37	c.668	CCDS2015.1	2	.	.	.	.	.	.	.	.	.	.	.	1.583	-0.530982	0.04112	.	.	ENSG00000144015	ENST00000272395	T	0.03717	3.83	1.33	-2.67	0.06059	.	.	.	.	.	T	0.01835	0.0058	N	0.13098	0.295	0.09310	N	1	B	0.27264	0.173	B	0.26202	0.067	T	0.47355	-0.9124	9	0.20519	T	0.43	-2.4806	2.1073	0.03694	0.4538:0.0:0.2953:0.2509	.	223	Q96BQ3	TRI43_HUMAN	I	223	ENSP00000272395:S223I	ENSP00000272395:S223I	S	+	2	0	TRIM43	95625837	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-1.432000	0.02430	-0.954000	0.03640	0.375000	0.23000	AGT	TRIM43	-	NULL	ENSG00000144015		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	-	0	130	0	G	NM_138800		96262110	1	tier1	-	no_errors	ENST00000272395	ensembl	human	known	74_37	missense	6.78	110	8	SNP	0.001	T	T	96262110	G	T	96262110	3	4	87	1	0	0	0	0	1	0	0	0	16566	1029	36	3	678	3	TRIM43	2	96262110	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	9577974	96262110	146937263	261	23385											
STARD7	56910	genome.wustl.edu	37	chr2	96852544	96852544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctggtggccttggctTcactactcatttccagaggc	6	12	11	12	0	2	1	2	0	0	1	3	1	3	1	2	5	1	2	2	5	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:96852544T>C	ENST00000337288.5	-	8	1420	c.1037A>G	c.(1036-1038)gAa>gGa	p.E346G	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	346						mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						GGCCTTGGCTTCACTACTCAT	0.502																																																	0													78	72	74					2																	96852544		2203	4300	6503	SO:0001583	missense	0			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"StAR-related lipid transfer (START) domain containing"	18063	protein-coding gene	gene with protein product			"START domain containing 7"				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.1037A>G	2.37:g.96852544T>C	ENSP00000338030:p.Glu346Gly		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.E346G	ENST00000337288.5	37	c.1037	CCDS2017.2	2	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007549	0.75046	.	.	ENSG00000084090	ENST00000337288	T	0.50001	0.76	5.84	5.84	0.93424	.	0.108413	0.64402	D	0.000010	T	0.34135	0.0887	N	0.24115	0.695	0.58432	D	0.999999	P	0.34462	0.454	B	0.30401	0.115	T	0.17992	-1.0351	10	0.40728	T	0.16	-21.592	14.1803	0.65568	0.0:0.0:0.0:1.0	.	346	Q9NQZ5	STAR7_HUMAN	G	346	ENSP00000338030:E346G	ENSP00000338030:E346G	E	-	2	0	STARD7	96216271	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	4.214000	0.58527	2.227000	0.72691	0.533000	0.62120	GAA	STARD7	-	NULL	ENSG00000084090		0.502	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD7	HGNC	protein_coding	OTTHUMT00000252848.2	-	0	75	0	T			96852544	-1	tier1	-	no_errors	ENST00000337288	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	C	C	96852544	T	C	96852544	3	2	87	1	0	0	0	0	1	0	0	0	15309	1783	62	4	79	4	STARD7	2	96852544	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	590434	96852544	146346829	262	23386											
LMAN2L	81562	genome.wustl.edu	37	chr2	97377431	97377431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggaggtgccgaagtagTagccgcggggcaggcggact	8	5	20	8	4	0	0	0	0	0	0	0	4	0	3	2	7	2	3	2	7	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:97377431T>A	ENST00000264963.4	-	6	768	c.746A>T	c.(745-747)tAc>tTc	p.Y249F	LMAN2L_ENST00000537039.1_Missense_Mutation_p.Y111F|LMAN2L_ENST00000426463.2_Missense_Mutation_p.Y115F|LMAN2L_ENST00000377079.4_Missense_Mutation_p.Y260F|LMAN2L_ENST00000534882.1_Missense_Mutation_p.Y104F	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	249	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GCCGAAGTAGTAGCCGCGGGG	0.522																																																	0													72	74	73					2																	97377431		2203	4300	6503	SO:0001583	missense	0			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.746A>T	2.37:g.97377431T>A	ENSP00000264963:p.Tyr249Phe		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.Y260F	ENST00000264963.4	37	c.779	CCDS2023.1	2	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772558	0.69992	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.68997	0.3062	L	0.55017	1.72	0.80722	D	1	B;B;B;P;P	0.42757	0.314;0.348;0.314;0.789;0.519	B;P;B;P;P	0.54312	0.328;0.537;0.219;0.719;0.748	T	0.63752	-0.6566	10	0.16420	T	0.52	.	14.9947	0.71421	0.0:0.0:0.0:1.0	.	104;122;115;260;249	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	F	249;260;115;111;104	ENSP00000264963:Y249F;ENSP00000366280:Y260F;ENSP00000396391:Y115F;ENSP00000441701:Y111F;ENSP00000438501:Y104F	ENSP00000264963:Y249F	Y	-	2	0	LMAN2L	96741158	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.230000	0.72301	2.180000	0.69256	0.482000	0.46254	TAC	LMAN2L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000114988		0.522	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1		0	43	0	T	NM_030805		97377431	-1			no_errors	ENST00000377079	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A	A	97377431	T	A	97377431	3	1	87	1	0	0	0	0	1	0	0	0	8869	1638	57	5	312	5	LMAN2L	2	97377431	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	524887	97377431	145821942	263	23387											
FAHD2B	151313	genome.wustl.edu	37	chr2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-																															tcctgaatacaccgacacctGggggggtcccagttaggatg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552																																																	0													29	31	30					2																	97749725		2203	4297	6500	SO:0001589	frameshift_variant	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.842delC	2.37:g.97749725delG	ENSP00000410470:p.Pro281fs		D3DXH7|Q8NDK1	Frame_Shift_Del	DEL	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.P281fs	ENST00000414820.1	37	c.842	CCDS2030.1	2																																																																																			FAHD2B	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000144199		0.552	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1		0	72	0	G	NM_199336		97749725	-1	tier1		no_errors	ENST00000272610	ensembl	human	known	74_37	frame_shift_del	28.89	32	13	DEL	1.000	-	-	97749725	G	-	97749725	7	5	87	1	0	1	0	1	0	0	0	0	5393	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	372294	97749725	145449648	264	23388											
TMEM131	23505	genome.wustl.edu	37	chr2	98543889	98543889	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacttaaaaaaaaattacCtgtagtagccctccatcatc	15	12	3	11	0	2	0	1	0	1	0	4	0	3	0	3	0	3	2	3	0	9	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:98543889C>A	ENST00000186436.5	-	2	477	c.249G>T	c.(247-249)caG>caT	p.Q83H	TMEM131_ENST00000425805.2_Splice_Site_p.Q34H	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	83						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAAAAATTACCTGTAGTAGCC	0.299																																																	0													56	52	54					2																	98543889		1827	4079	5906	SO:0001630	splice_region_variant	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.249+1G>T	2.37:g.98543889C>A				Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.Q83H	ENST00000186436.5	37	c.249	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819841	0.50633	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	T	0.36878	1.23	5.16	5.16	0.70880	.	.	.	.	.	T	0.43809	0.1264	N	0.19112	0.55	0.80722	D	1	D;D	0.65815	0.995;0.978	D;P	0.65573	0.936;0.501	T	0.22382	-1.0218	8	.	.	.	.	17.5711	0.87934	0.0:1.0:0.0:0.0	.	34;83	B4DMG2;Q92545	.;TM131_HUMAN	H	83;34	ENSP00000186436:Q83H	.	Q	-	3	2	TMEM131	97910321	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.739000	0.55075	2.687000	0.91594	0.557000	0.71058	CAG	TMEM131	-	NULL	ENSG00000075568		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0	63	0	C	XM_371542	Missense_Mutation	98543889	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	A	A	98543889	C	A	98543889	5	1	87	1	0	0	0	0	0	0	1	0	16091	695	24	3	5562	3	TMEM131	2	98543889	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	794164	98543889	144655484	265	23389											
TSGA10	80705	genome.wustl.edu	37	chr2	99725853	99725854	+	Splice_Site	INS	-	-	G																															taagtttataaaacctacccINSgggcagttggtgatgggcgt																								rs553625521		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:99725853_99725854insG	ENST00000393483.3	-	6	893_894	c.49_50insC	c.(49-51)cgg>cCgg	p.R17fs	TSGA10_ENST00000542655.1_Splice_Site_p.R17fs|TSGA10_ENST00000539964.1_Splice_Site_p.R17fs|TSGA10_ENST00000355053.4_Splice_Site_p.R17fs|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Splice_Site_p.R17fs	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	17					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AAAACCTACCCGGGCAGTTGGT	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"cancer/testis antigen 79"	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.51+1->C	2.37:g.99725856_99725856dupG			B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Frame_Shift_Ins	INS	NULL	p.R17fs	ENST00000393483.3	37	c.50_49	CCDS2037.1	2																																																																																			TSGA10	-	NULL	ENSG00000135951		0.361	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1		0	78	0	-	NM_182911	Frame_Shift_Ins	99725854	-1	tier1		no_errors	ENST00000355053	ensembl	human	known	74_37	frame_shift_ins	26.39	53	19	INS	0.992:0.927	G	G	99725854	-	G	99725853	8	5	87	1	0	1	1	0	0	0	1	0	16665	666	23	0	2110	0	TSGA10	2	99725853	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1181964	99725853	143473520	266	23390											
AFF3	3899	genome.wustl.edu	37	chr2	100209760	100209760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtggcaggggcgctcaatAcccctggctcctggggcagg	5	7	17	12	1	1	0	1	0	0	0	2	0	2	0	3	8	1	4	3	8	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:100209760A>G	ENST00000409236.2	-	13	2475	c.2363T>C	c.(2362-2364)gTa>gCa	p.V788A	AFF3_ENST00000356421.2_Missense_Mutation_p.V813A|AFF3_ENST00000317233.4_Missense_Mutation_p.V788A|AFF3_ENST00000409579.1_Missense_Mutation_p.V813A			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	788					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCGCTCAATACCCCTGGCTC	0.582																																																	0													60	62	61					2																	100209760		2203	4300	6503	SO:0001583	missense	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2363T>C	2.37:g.100209760A>G	ENSP00000387207:p.Val788Ala		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V813A	ENST00000409236.2	37	c.2438	CCDS42723.1	2	.	.	.	.	.	.	.	.	.	.	A	0.061	-1.224760	0.01530	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.5	2.79	0.32731	.	0.658159	0.13874	N	0.356784	T	0.39384	0.1076	N	0.14661	0.345	0.09310	N	1	B;B;B	0.12630	0.001;0.006;0.0	B;B;B	0.18871	0.005;0.023;0.0	T	0.19128	-1.0315	10	0.07644	T	0.81	.	9.5444	0.39271	0.782:0.0:0.218:0.0	.	941;788;813	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	A	788;813;813;788;788;941	ENSP00000317421:V788A;ENSP00000348793:V813A;ENSP00000386834:V813A;ENSP00000387207:V788A	ENSP00000317421:V788A	V	-	2	0	AFF3	99576192	0.052000	0.20516	0.033000	0.17914	0.346000	0.29079	2.302000	0.43637	0.930000	0.37217	0.459000	0.35465	GTA	AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.582	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0	55	0	A	NM_002285		100209760	-1			no_errors	ENST00000356421	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.000	G	G	100209760	A	G	100209760	3	3	87	1	0	0	0	0	1	0	0	0	358	391	14	4	1361	4	AFF3	2	100209760	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	483907	100209760	142989613	267	23391											
CHST10	9486	genome.wustl.edu	37	chr2	101023110	101023110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatcacccaaaagcatgCggccagcagaagccactggt	15	4	10	12	1	1	1	1	0	0	1	1	2	1	1	3	2	4	2	3	2	5	0	rs150069978	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:101023110C>A	ENST00000264249.3	-	3	413	c.28G>T	c.(28-30)Gca>Tca	p.A10S	CHST10_ENST00000485085.1_5'Flank|CHST10_ENST00000542617.1_Missense_Mutation_p.A58S|CHST10_ENST00000409701.1_Missense_Mutation_p.A10S	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	10					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CAAAAGCATGCGGCCAGCAGA	0.488																																																	0													184	180	182					2																	101023110		2203	4300	6503	SO:0001583	missense	0			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"Sulfotransferases, membrane-bound"	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.28G>T	2.37:g.101023110C>A	ENSP00000264249:p.Ala10Ser		Q53T18	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.A58S	ENST00000264249.3	37	c.172	CCDS2047.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262712	0.80358	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474;ENST00000418201;ENST00000435960	T;T;T;T;T;T;T;T;T	0.74106	-0.68;-0.81;-0.68;0.58;0.5;0.32;0.34;0.19;-0.06	5.18	3.39	0.38822	.	0.000000	0.85682	D	0.000000	T	0.65365	0.2684	L	0.32530	0.975	0.58432	D	0.999999	P	0.45348	0.856	P	0.44897	0.463	T	0.58940	-0.7547	10	0.13108	T	0.6	-10.5791	14.2633	0.66099	0.0:0.9161:0.0:0.0839	.	10	O43529	CHSTA_HUMAN	S	10;58;10;10;10;58;10;10;10	ENSP00000264249:A10S;ENSP00000438869:A58S;ENSP00000387309:A10S;ENSP00000387121:A10S;ENSP00000405922:A10S;ENSP00000387977:A58S;ENSP00000407525:A10S;ENSP00000416831:A10S;ENSP00000395643:A10S	ENSP00000264249:A10S	A	-	1	0	CHST10	100389542	1.000000	0.71417	0.861000	0.33841	0.943000	0.58893	3.903000	0.56318	0.699000	0.31761	0.655000	0.94253	GCA	CHST10	-	NULL	ENSG00000115526		0.488	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	-	0	34	0	C	NM_004854		101023110	-1	tier1	-	no_errors	ENST00000542617	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A	A	101023110	C	A	101023110	3	1	87	1	0	0	0	0	1	0	0	0	3405	768	27	2	1062	2	CHST10	2	101023110	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	813350	101023110	142176263	268	23392											
TBC1D8	11138	genome.wustl.edu	37	chr2	101667040	101667040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgattcggatggtatccGtcagaaagacattggacgtt	10	12	13	6	3	1	3	1	1	0	2	3	5	2	5	1	4	0	2	1	4	2	4	rs533724239		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:101667040G>A	ENST00000376840.4	-	5	649	c.650C>T	c.(649-651)aCg>aTg	p.T217M	TBC1D8_ENST00000409318.1_Missense_Mutation_p.T232M			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	217					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GATGGTATCCGTCAGAAAGAC	0.458													G|||	1	0.000199681	8e-04	0	5008	,	,		21954	0		0	False		,,,				2504	0																0													86	88	88					2																	101667040		1996	4154	6150	SO:0001583	missense	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.650C>T	2.37:g.101667040G>A	ENSP00000366036:p.Thr217Met		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T232M	ENST00000376840.4	37	c.695	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765523	0.90020	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.03358	3.96;3.96	5.37	5.37	0.77165	.	.	.	.	.	T	0.14960	0.0361	L	0.52573	1.65	0.46241	D	0.998949	D;D	0.89917	0.989;1.0	P;D	0.70716	0.719;0.97	T	0.00196	-1.1931	9	0.72032	D	0.01	-11.7033	19.1192	0.93355	0.0:0.0:1.0:0.0	.	232;217	B7Z6L4;O95759	.;TBCD8_HUMAN	M	217;232	ENSP00000366036:T217M;ENSP00000386856:T232M	ENSP00000366036:T217M	T	-	2	0	TBC1D8	101033472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.701000	0.98710	2.511000	0.84671	0.561000	0.74099	ACG	TBC1D8	-	NULL	ENSG00000204634		0.458	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	-	0	57	0	G	NM_007063		101667040	-1	tier1	-	no_errors	ENST00000409318	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	A	A	101667040	G	A	101667040	3	1	87	1	0	0	0	0	1	0	0	0	15672	1145	40	1	2836	1	TBC1D8	2	101667040	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	643930	101667040	141532333	269	23393											
IL18R1	8809	genome.wustl.edu	37	chr2	102988513	102988513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattgtggaagttaaaaaaTtttttcagataacctgtgaa	17	14	7	3	0	1	2	1	1	0	1	1	3	1	3	1	1	1	1	1	1	7	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:102988513T>A	ENST00000409599.1	+	5	759	c.403T>A	c.(403-405)Ttt>Att	p.F135I	IL18R1_ENST00000334376.3_Missense_Mutation_p.F135I|IL18R1_ENST00000233957.1_Missense_Mutation_p.F135I			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	135	Ig-like C2-type 2.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)	p.F135I(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGTTAAAAAATTTTTTCAGAT	0.279																																																	1	Substitution - Missense(1)	large_intestine(1)											38	41	40					2																	102988513		2201	4293	6494	SO:0001583	missense	0			U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.403T>A	2.37:g.102988513T>A	ENSP00000387211:p.Phe135Ile		B2R9Y5|Q52LC9	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ	p.F135I	ENST00000409599.1	37	c.403	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	T	9.598	1.127837	0.20959	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957;ENST00000334376	T;T;T	0.11063	2.81;2.81;2.81	5.15	-10.3	0.00346	.	2.722080	0.00780	N	0.001266	T	0.07279	0.0184	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.042;0.038;0.042	B;B;B	0.18871	0.023;0.016;0.023	T	0.08911	-1.0699	10	0.26408	T	0.33	.	8.8123	0.34974	0.2463:0.0678:0.5784:0.1074	.	135;135;135	B7ZKV7;Q86YL8;Q13478	.;.;IL18R_HUMAN	I	135	ENSP00000386663:F135I;ENSP00000387211:F135I;ENSP00000233957:F135I	ENSP00000233957:F135I	F	+	1	0	IL18R1	102354945	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.607000	0.00416	-3.487000	0.00154	-0.466000	0.05196	TTT	IL18R1	-	smart_Ig_sub	ENSG00000115604		0.279	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	HGNC	protein_coding	OTTHUMT00000253294.2	-	0	66	0	T	NM_003855		102988513	1	tier1	-	no_errors	ENST00000233957	ensembl	human	known	74_37	missense	29.41	35	15	SNP	0.000	A	A	102988513	T	A	102988513	3	1	87	1	0	0	0	0	1	0	0	0	7674	1493	52	5	413	5	IL18R1	2	102988513	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1321473	102988513	140210860	270	23394											
POU3F3	5455	genome.wustl.edu	37	chr2	105472906	105472906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacgacccgcactcggAcgaggacacgccgacgtcgg	9	2	13	17	8	0	0	0	0	0	0	2	5	0	2	3	3	1	1	3	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:105472906A>G	ENST00000361360.2	+	1	938	c.938A>G	c.(937-939)gAc>gGc	p.D313G	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	313					central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCGCACTCGGACGAGGACACG	0.736																																																	0													31	28	29					2																	105472906		2202	4299	6501	SO:0001583	missense	0				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"Homeoboxes / POU class"	9216	protein-coding gene	gene with protein product		602480	"POU domain class 3, transcription factor 3"				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.938A>G	2.37:g.105472906A>G	ENSP00000355001:p.Asp313Gly		P78379|Q4ZG25	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.D313G	ENST00000361360.2	37	c.938	CCDS33265.1	2	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713035	0.89112	.	.	ENSG00000198914	ENST00000361360	D	0.85171	-1.95	3.58	3.58	0.41010	.	0.000000	0.64402	U	0.000006	D	0.84288	0.5439	L	0.39898	1.24	0.58432	D	0.999991	D	0.55605	0.972	P	0.52793	0.709	D	0.85598	0.1250	10	0.87932	D	0	.	11.5602	0.50772	1.0:0.0:0.0:0.0	.	313	P20264	PO3F3_HUMAN	G	313	ENSP00000355001:D313G	ENSP00000355001:D313G	D	+	2	0	POU3F3	104839338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.519000	0.90563	1.430000	0.47334	0.321000	0.21382	GAC	POU3F3	-	pirsf_Transcription_factor_POU	ENSG00000198914		0.736	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2	-	0	63	0	A			105472906	1	tier1	-	no_errors	ENST00000361360	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G	G	105472906	A	G	105472906	3	3	87	1	0	0	0	0	1	0	0	0	12315	275	10	4	940	4	POU3F3	2	105472906	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2484393	105472906	137726467	271	23395											
RGPD3	653489	genome.wustl.edu	37	chr2	107040056	107040056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaaaaattttcttaaacGagtctgcaacatcctgtagt	14	13	5	9	1	3	0	1	0	2	0	4	1	4	0	1	0	3	2	1	0	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:107040056G>A	ENST00000409886.3	-	20	4454	c.4367C>T	c.(4366-4368)tCg>tTg	p.S1456L	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1456L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1456	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTTAAACGAGTCTGCAAC	0.398																																																	0													3	2	3					2																	107040056		603	1280	1883	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"Tetratricopeptide (TTC) repeat domain containing"	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4367C>T	2.37:g.107040056G>A	ENSP00000386588:p.Ser1456Leu		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1456L	ENST00000409886.3	37	c.4367	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.485	-0.878172	0.02550	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.44881	0.91;0.91	2.35	2.35	0.29111	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.17534	0.0421	N	0.03177	-0.4	0.09310	N	1	B	0.28258	0.205	B	0.23852	0.049	T	0.10917	-1.0609	9	0.38643	T	0.18	-10.2208	5.0894	0.14700	0.1765:0.0:0.8235:0.0	.	1456	A6NKT7	RGPD3_HUMAN	L	1456	ENSP00000386588:S1456L;ENSP00000303659:S1456L	ENSP00000303659:S1456L	S	-	2	0	RGPD3	106406488	0.930000	0.31532	0.999000	0.59377	0.269000	0.26545	2.675000	0.46875	1.314000	0.45095	0.186000	0.17326	TCG	RGPD3	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000153165		0.398	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	-	0	52	0	G	XM_929931		107040056	-1	tier1	-	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.273	A	A	107040056	G	A	107040056	3	1	87	1	0	0	0	0	1	0	0	0	13332	1059	37	1	925	1	RGPD3	2	107040056	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1567150	107040056	136159317	272	23396											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107423316	107423316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgcgtcgtagtacagctCgtggtagtggcacagctccg	6	9	15	11	4	0	0	0	0	0	0	3	0	1	0	1	3	4	7	1	3	3	3	rs141942088		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:107423316C>T	ENST00000409382.3	-	6	2018	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.E470K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	470					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TAGTACAGCTCGTGGTAGTGG	0.557																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	79	70	73		1408,1408	5.8	1	2	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ST6GAL2	NM_001142351.1,NM_032528.2	56,56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	470/530,470/530	107423316	2,13004	2203	4300	6503	SO:0001583	missense	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1408G>A	2.37:g.107423316C>T	ENSP00000386942:p.Glu470Lys		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.E470K	ENST00000409382.3	37	c.1408	CCDS2073.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.861469|5.861469	0.97036|0.97036	0.0|0.0	2.33E-4|2.33E-4	ENSG00000144057|ENSG00000144057	ENST00000361686;ENST00000409382|ENST00000361803	T;T|.	0.36340|.	1.26;1.26|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85592|0.85592	0.5732|0.5732	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.65573|.	0.936|.	D|D	0.87548|0.87548	0.2463|0.2463	10|5	0.87932|.	D|.	0|.	-49.4922|-49.4922	19.0512|19.0512	0.93046|0.93046	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	470|.	Q96JF0|.	SIAT2_HUMAN|.	K|Q	470|35	ENSP00000355273:E470K;ENSP00000386942:E470K|.	ENSP00000355273:E470K|.	E|R	-|-	1|2	0|0	ST6GAL2|ST6GAL2	106789748|106789748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.003000|6.003000	0.70701|0.70701	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|CGA	ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.557	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0	14	0	C	NM_032528		107423316	-1	tier1	rs141942088	no_errors	ENST00000361686	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	T	T	107423316	C	T	107423316	3	4	87	1	0	0	0	0	1	0	0	0	15269	893	31	1	185	1	ST6GAL2	2	107423316	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	383260	107423316	135776057	273	23397											
SLC5A7	60482	genome.wustl.edu	37	chr2	108626718	108626718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaatcgtttgggttatgCgaatcacagtgtttgtgttt	10	16	11	4	2	1	1	1	0	0	1	2	2	1	1	0	1	1	4	0	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:108626718C>T	ENST00000264047.2	+	9	1420	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	SLC5A7_ENST00000540517.1_Nonsense_Mutation_p.R277*|SLC5A7_ENST00000409059.1_Nonsense_Mutation_p.R382*	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	382					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTGGGTTATGCGAATCACAGT	0.448																																																	0													175	138	151					2																	108626718		2203	4300	6503	SO:0001587	stop_gained	0			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"Solute carriers"	14025	protein-coding gene	gene with protein product		608761	"solute carrier family 5 (choline transporter), member 7"			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1144C>T	2.37:g.108626718C>T	ENSP00000264047:p.Arg382*		Q53TF2	Nonsense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	p.R382*	ENST00000264047.2	37	c.1144	CCDS2074.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.786878	0.97837	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	.	.	.	5.85	1.3	0.21679	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.9117	15.2373	0.73441	0.5297:0.4703:0.0:0.0	.	.	.	.	X	382;277;382	.	ENSP00000264047:R382X	R	+	1	2	SLC5A7	107993150	0.998000	0.40836	0.998000	0.56505	0.876000	0.50452	0.610000	0.24253	0.301000	0.22738	0.650000	0.86243	CGA	SLC5A7	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter	ENSG00000115665		0.448	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A7	HGNC	protein_coding	OTTHUMT00000253562.1	-	0	86	0	C			108626718	1	tier1	-	no_errors	ENST00000264047	ensembl	human	known	74_37	nonsense	31.82	45	21	SNP	1.000	T	T	108626718	C	T	108626718	4	4	87	1	0	0	0	0	0	1	0	0	14715	760	27	1	1174	1	SLC5A7	2	108626718	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1203402	108626718	134572655	274	23398											
ANAPC1	64682	genome.wustl.edu	37	chr2	112614257	112614258	+	Splice_Site	INS	-	-	T																															ccagcatggtgtctattttcINStaaaaaaacaaaaaagacaa																								rs4067742		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1450-1->A	2.37:g.112614258_112614258dupT			Q2M3H8|Q9BSE6|Q9H8D0	Splice_Site	INS	-	e12-1	ENST00000341068.3	37	c.1450-2_1450-1	CCDS2093.1	2																																																																																			ANAPC1	-	-	ENSG00000153107		0.361	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0	175	0	0	NM_022662	Intron	112614258	-1			no_errors	ENST00000341068	ensembl	human	known	74_37	splice_site_ins	7.62	206	17	INS	0.994:0.992	T	T	112614258	-	T	112614257	8	5	87	1	0	1	1	0	0	0	1	0	598	927	32	0	4529	0	ANAPC1	2	112614257	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	3987539	112614257	130585116	275	23399	92	2									
ANAPC1	64682	genome.wustl.edu	37	chr2	112614258	112614259	+	Splice_Site	INS	-	-	A																															cagcatggtgtctattttctINSaaaaaaacaaaaaagacaaa																								rs4067742		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:112614258_112614259insA	ENST00000341068.3	-	13	2222		c.e13-2			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTCTATTTTCTAAAAAAACAAA	0.356																																																	0																																										SO:0001630	splice_region_variant	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"Anaphase promoting complex subunits"	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1450-2->T	2.37:g.112614265_112614265dupA			Q2M3H8|Q9BSE6|Q9H8D0	Splice_Site	INS	-	e12-2	ENST00000341068.3	37	c.1450-3_1450-2	CCDS2093.1	2																																																																																			ANAPC1	-	-	ENSG00000153107		0.356	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0	177	0	-	NM_022662	Intron	112614259	-1	tier1		no_errors	ENST00000341068	ensembl	human	known	74_37	splice_site_ins	14.55	188	32	INS	0.992:0.087	A	A	112614259	-	A	112614258	8	5	87	1	0	1	1	0	0	0	1	0	598	1536	53	0	4530	0	ANAPC1	2	112614258	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1	112614258	130585115	276	23400	92	2									
PSD4	23550	genome.wustl.edu	37	chr2	113956432	113956432	+	Missense_Mutation	SNP	C	C	A																															gcagattcgtgcggcccatcCtgcccgtgggccccgcccag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:113956432C>A	ENST00000245796.6	+	15	2935	c.2740C>A	c.(2740-2742)Ctg>Atg	p.L914M	PSD4_ENST00000441564.3_Missense_Mutation_p.L885M	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	914					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGGCCCATCCTGCCCGTGGG	0.716																																																	0													9	10	10					2																	113956432		2165	4224	6389	SO:0001583	missense	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2740C>A	2.37:g.113956432C>A	ENSP00000245796:p.Leu914Met		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.L914M	ENST00000245796.6	37	c.2740	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458484	0.63401	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.80393	-1.37;-1.37	5.31	4.43	0.53597	.	0.000000	0.64402	D	0.000001	D	0.87249	0.6130	M	0.71581	2.175	0.80722	D	1	P;P;P;D	0.65815	0.652;0.655;0.901;0.995	P;P;P;P	0.60173	0.511;0.644;0.87;0.812	D	0.87685	0.2550	10	0.87932	D	0	.	14.8863	0.70572	0.0:0.9212:0.0:0.0788	.	144;571;885;914	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	M	914;885	ENSP00000245796:L914M;ENSP00000413997:L885M	ENSP00000245796:L914M	L	+	1	2	PSD4	113672903	1.000000	0.71417	0.998000	0.56505	0.389000	0.30415	2.838000	0.48199	0.635000	0.30488	-1.579000	0.00862	CTG	PSD4	-	NULL	ENSG00000125637		0.716	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0	23	0	C	NM_012455		113956432	1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	A	A	113956432	C	A	113956432	3	1	87	1	0	0	0	0	1	0	0	0	12691	680	24	3	2794	3	PSD4	2	113956432	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1342174	113956432	129242941	277	23401	93	2									
PSD4	23550	genome.wustl.edu	37	chr2	113956438	113956438	+	Missense_Mutation	SNP	G	G	A																															tcgtgcggcccatcctgcccGtgggccccgcccagagctcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:113956438G>A	ENST00000245796.6	+	15	2941	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	PSD4_ENST00000441564.3_Missense_Mutation_p.V887M	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	916					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATCCTGCCCGTGGGCCCCGC	0.721																																																	0													8	9	9					2																	113956438		2159	4200	6359	SO:0001583	missense	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2746G>A	2.37:g.113956438G>A	ENSP00000245796:p.Val916Met		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.V916M	ENST00000245796.6	37	c.2746	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	G	7.237	0.600432	0.13939	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10099	2.91;2.91	5.31	-3.39	0.04868	.	0.904162	0.09578	N	0.783290	T	0.04861	0.0131	N	0.04636	-0.2	0.19775	N	0.99995	B;B;B;B	0.22800	0.019;0.075;0.024;0.014	B;B;B;B	0.19148	0.018;0.011;0.024;0.011	T	0.40478	-0.9561	10	0.35671	T	0.21	.	11.9096	0.52731	0.8059:0.0:0.1941:0.0	.	146;573;887;916	B4DFU9;Q59HG0;Q8NDX1-2;Q8NDX1	.;.;.;PSD4_HUMAN	M	916;887	ENSP00000245796:V916M;ENSP00000413997:V887M	ENSP00000245796:V916M	V	+	1	0	PSD4	113672909	0.001000	0.12720	0.003000	0.11579	0.235000	0.25334	0.113000	0.15499	-0.582000	0.05929	0.491000	0.48974	GTG	PSD4	-	NULL	ENSG00000125637		0.721	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0	21	0	G	NM_012455		113956438	1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	A	A	113956438	G	A	113956438	3	1	87	1	0	0	0	0	1	0	0	0	12691	1145	40	1	2800	1	PSD4	2	113956438	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6	113956438	129242935	278	23402	93	2									
EN1	2019	genome.wustl.edu	37	chr2	119603905	119603905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatggacgatccgaataaCgtgtgcagtacacccaggcg	12	6	13	10	4	0	0	0	0	0	0	1	4	1	2	2	3	3	2	2	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:119603905C>T	ENST00000295206.6	-	1	1349	c.839G>A	c.(838-840)cGt>cAt	p.R280H	EN1_ENST00000546667.1_5'Flank	NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	280					anatomical structure morphogenesis (GO:0009653)|dorsal/ventral pattern formation (GO:0009953)|embryonic forelimb morphogenesis (GO:0035115)|hindbrain development (GO:0030902)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|multicellular organism growth (GO:0035264)|neuron development (GO:0048666)|pigmentation (GO:0043473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|response to cocaine (GO:0042220)|skeletal system development (GO:0001501)	membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						ATCCGAATAACGTGTGCAGTA	0.647																																																	0													28	32	31					2																	119603905		2203	4300	6503	SO:0001583	missense	0			L12699	CCDS2123.1	2q14.2	2011-06-20	2007-02-15		ENSG00000163064	ENSG00000163064		"Homeoboxes / ANTP class : NKL subclass"	3342	protein-coding gene	gene with protein product		131290				8094370	Standard	NM_001426		Approved		uc002tlm.3	Q05925	OTTHUMG00000131401	ENST00000295206.6:c.839G>A	2.37:g.119603905C>T	ENSP00000295206:p.Arg280His		Q4ZG44	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4	p.R280H	ENST00000295206.6	37	c.839	CCDS2123.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187897	0.78789	.	.	ENSG00000163064	ENST00000295206	D	0.92299	-3.01	3.72	3.72	0.42706	.	0.281842	0.32719	N	0.005738	D	0.95439	0.8519	M	0.77712	2.385	0.44352	D	0.997245	D	0.89917	1.0	D	0.85130	0.997	D	0.95805	0.8836	10	0.87932	D	0	-8.3548	13.4305	0.61053	0.0:1.0:0.0:0.0	.	280	Q05925	HME1_HUMAN	H	280	ENSP00000295206:R280H	ENSP00000295206:R280H	R	-	2	0	EN1	119320375	0.997000	0.39634	0.937000	0.37676	0.753000	0.42808	7.368000	0.79567	2.082000	0.62665	0.549000	0.68633	CGT	EN1	-	NULL	ENSG00000163064		0.647	EN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EN1	HGNC	protein_coding	OTTHUMT00000254191.3		0	14	0	C			119603905	-1			no_errors	ENST00000295206	ensembl	human	known	74_37	missense	23.08	10	3	SNP	0.943	T	T	119603905	C	T	119603905	3	4	87	1	0	0	0	0	1	0	0	0	5125	536	19	1	347	1	EN1	2	119603905	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5647467	119603905	123595468	279	23403											
GLI2	2736	genome.wustl.edu	37	chr2	121746728	121746728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgccagtggcgctctggacGagggcaccgggcaggtgtat	7	6	17	11	4	1	0	0	0	1	0	1	2	1	1	2	5	0	4	2	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:121746728G>C	ENST00000452319.1	+	14	3298	c.3238G>C	c.(3238-3240)Gag>Cag	p.E1080Q	GLI2_ENST00000314490.11_Missense_Mutation_p.E752Q|GLI2_ENST00000361492.4_Missense_Mutation_p.E1080Q					GLI family zinc finger 2									p.E1080*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCTCTGGACGAGGGCACCGG	0.692																																																	1	Substitution - Nonsense(1)	lung(1)											54	60	58					2																	121746728		2203	4300	6503	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"Zinc fingers, C2H2-type"	4318	protein-coding gene	gene with protein product	"tax-responsive element-2 holding protein", "tax helper protein 1", "tax helper protein 2"	165230	"GLI-Kruppel family member GLI2", "glioma-associated oncogene family zinc finger 2"			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.3238G>C	2.37:g.121746728G>C	ENSP00000390436:p.Glu1080Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1080Q	ENST00000452319.1	37	c.3238	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.996457	0.00435	.	.	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.14266	2.52;2.52;2.66	4.78	4.78	0.61160	.	1.011210	0.07902	N	0.972873	T	0.09774	0.0240	N	0.05306	-0.075	0.09310	N	1	P;P;B;P	0.47677	0.838;0.899;0.035;0.524	B;B;B;B	0.43331	0.237;0.416;0.021;0.302	T	0.22661	-1.0210	10	0.08381	T	0.77	.	18.0573	0.89367	0.0:0.0:1.0:0.0	.	1080;735;735;752	P10070;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.	Q	1080;1080;752	ENSP00000390436:E1080Q;ENSP00000354586:E1080Q;ENSP00000312694:E752Q	ENSP00000312694:E752Q	E	+	1	0	GLI2	121463198	0.995000	0.38212	0.006000	0.13384	0.034000	0.12701	3.923000	0.56469	2.489000	0.83994	0.456000	0.33151	GAG	GLI2	-	NULL	ENSG00000074047		0.692	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3		0	23	0	G	NM_005270		121746728	1			no_errors	ENST00000361492	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.024	C	C	121746728	G	C	121746728	3	2	87	1	0	0	0	0	1	0	0	0	6464	1059	37	5	3288	5	GLI2	2	121746728	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2142823	121746728	121452645	280	23404											
MKI67IP	84365	genome.wustl.edu	37	chr2	122486069	122486069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctggccttttgtagacGtctgacgattagtttttgaa	8	17	9	7	2	1	3	0	2	1	1	1	4	1	3	2	1	1	2	2	1	4	7	rs377016579		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:122486069G>A	ENST00000285814.4	-	5	680	c.608C>T	c.(607-609)aCg>aTg	p.T203M	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		203					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TTTTGTAGACGTCTGACGATT	0.289																																																	0								G	MET/THR	0,4406		0,0,2203	54	55	55		608	-4	0	2		55	1,8579	1.2+/-3.3	0,1,4289	no	missense	MKI67IP	NM_032390.4	81	0,1,6492	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging	203/294	122486069	1,12985	2203	4290	6493	SO:0001583	missense	0																														ENST00000285814.4:c.608C>T	2.37:g.122486069G>A	ENSP00000285814:p.Thr203Met		A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T203M	ENST00000285814.4	37	c.608	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	G	4.324	0.059479	0.08339	0.0	1.17E-4	ENSG00000155438	ENST00000285814;ENST00000447132	T;T	0.46063	2.33;0.88	3.54	-4.04	0.04010	.	2.675740	0.01121	N	0.005791	T	0.19805	0.0476	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.08249	-1.0731	10	0.45353	T	0.12	0.0256	1.0325	0.01541	0.2975:0.0981:0.3166:0.2878	.	203	Q9BYG3	MK67I_HUMAN	M	203;98	ENSP00000285814:T203M;ENSP00000406227:T98M	ENSP00000285814:T203M	T	-	2	0	MKI67IP	122202539	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.259000	0.08721	-0.768000	0.04626	-2.614000	0.00158	ACG	MKI67IP	-	NULL	ENSG00000155438		0.289	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	HGNC	protein_coding	OTTHUMT00000254239.2	-	0	42	0	G			122486069	-1	tier1	-	no_errors	ENST00000285814	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.000	A	A	122486069	G	A	122486069	3	1	87	1	0	0	0	0	1	0	0	0	9637	1145	40	1	285	1	MKI67IP	2	122486069	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	739341	122486069	120713304	281	23405											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125192203	125192203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccatggagaaggtcaGcgtggagaccacatcacctt	10	9	11	11	1	2	2	2	0	0	2	3	4	3	2	3	3	1	1	3	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:125192203G>A	ENST00000431078.1	+	5	1036	c.672G>A	c.(670-672)caG>caA	p.Q224Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	224	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGAAGGTCAGCGTGGAGACC	0.512																																																	0													80	81	81					2																	125192203		2094	4230	6324	SO:0001819	synonymous_variant	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.672G>A	2.37:g.125192203G>A			Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.Q224	ENST00000431078.1	37	c.672	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	37	0	G			125192203	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.999	A	A	125192203	G	A	125192203	2	1	87	1	0	0	0	0	0	0	0	1	3657	962	34	3		3	CNTNAP5	2	125192203	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2706134	125192203	118007170	282	23406											
MAP3K2	10746	genome.wustl.edu	37	chr2	128096511	128096511	+	Frame_Shift_Del	DEL	T	T	-																															cttattaaaataaatacctgTttttttggtgatgaagattt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:128096511delT	ENST00000409947.1	-	3	402	c.120delA	c.(118-120)aaafs	p.K40fs	MAP3K2_ENST00000344908.5_Frame_Shift_Del_p.K40fs			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	40					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TAAATACCTGTTTTTTTGGTG	0.333																																																	0													63	55	57					2																	128096511		1799	4061	5860	SO:0001589	frameshift_variant	0			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6854	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 2"	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.120delA	2.37:g.128096511delT	ENSP00000387246:p.Lys40fs		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K40fs	ENST00000409947.1	37	c.120	CCDS46404.1	2																																																																																			MAP3K2	-	NULL	ENSG00000169967		0.333	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K2	HGNC	protein_coding	OTTHUMT00000331014.1		0	37	0	T	NM_006609		128096511	-1	tier1		no_errors	ENST00000344908	ensembl	human	known	74_37	frame_shift_del	11.11	32	4	DEL	0.721	-	-	128096511	T	-	128096511	7	5	87	1	0	1	0	1	0	0	0	0	9288	1722	60	0	1799	0	MAP3K2	2	128096511	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2904308	128096511	115102862	283	23407											
ZRANB3	84083	genome.wustl.edu	37	chr2	135985510	135985510	+	Frame_Shift_Del	DEL	T	T	-																															agtctgagatagtttgaaccTttttggaggtgtctttctga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:135985510delT	ENST00000264159.6	-	14	2146	c.2030delA	c.(2029-2031)aagfs	p.K677fs	ZRANB3_ENST00000536680.1_Frame_Shift_Del_p.K677fs|ZRANB3_ENST00000401392.1_Frame_Shift_Del_p.K677fs|ZRANB3_ENST00000412849.1_5'UTR	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	677					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGTTTGAACCTTTTTGGAGGT	0.368																																																	0													105	87	93					2																	135985510		1825	4063	5888	SO:0001589	frameshift_variant	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2030delA	2.37:g.135985510delT	ENSP00000264159:p.Lys677fs		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K677fs	ENST00000264159.6	37	c.2030	CCDS46419.1	2																																																																																			ZRANB3	-	NULL	ENSG00000121988		0.368	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1		0	89	0	T	NM_032143		135985510	-1	tier1		no_errors	ENST00000264159	ensembl	human	known	74_37	frame_shift_del	12.63	83	12	DEL	0.000	-	-	135985510	T	-	135985510	7	5	87	1	0	1	0	1	0	0	0	0	18272	1609	56	0	1241	0	ZRANB3	2	135985510	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	7888999	135985510	107213863	284	23408											
ZRANB3	84083	genome.wustl.edu	37	chr2	136103154	136103154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtatctttttgcatagtCggtccatcttccaaattttt	9	18	5	9	1	2	0	0	0	2	0	5	0	4	0	2	1	1	2	2	1	3	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:136103154C>T	ENST00000264159.6	-	6	759	c.643G>A	c.(643-645)Gac>Aac	p.D215N	ZRANB3_ENST00000536680.1_Missense_Mutation_p.D215N|ZRANB3_ENST00000401392.1_Missense_Mutation_p.D215N	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	215	DNA annealing helicase activity.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTGCATAGTCGGTCCATCTT	0.299																																																	0													119	111	113					2																	136103154		1820	4077	5897	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"Zinc fingers, RAN-binding domain containing"	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.643G>A	2.37:g.136103154C>T	ENSP00000264159:p.Asp215Asn		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D215N	ENST00000264159.6	37	c.643	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198866	0.79015	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680;ENST00000397448	D;D;D	0.93076	-3.16;-3.16;-3.16	5.04	5.04	0.67666	SNF2-related (1);	0.333926	0.38548	N	0.001646	D	0.92841	0.7723	L	0.49350	1.555	0.51767	D	0.999933	P;P;P	0.48764	0.915;0.659;0.612	P;B;B	0.46208	0.507;0.242;0.196	D	0.93476	0.6823	10	0.59425	D	0.04	-18.0496	18.7494	0.91807	0.0:1.0:0.0:0.0	.	155;215;215	E9PBP0;Q5FWF4;Q5FWF4-3	.;ZRAB3_HUMAN;.	N	215;215;215;155	ENSP00000383979:D215N;ENSP00000264159:D215N;ENSP00000441320:D215N	ENSP00000264159:D215N	D	-	1	0	ZRANB3	135819624	1.000000	0.71417	0.987000	0.45799	0.856000	0.48823	4.883000	0.63128	2.491000	0.84063	0.557000	0.71058	GAC	ZRANB3	-	pfam_SNF2_N,superfamily_P-loop_NTPase	ENSG00000121988		0.299	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	-	0	43	0	C	NM_032143		136103154	-1	tier1	-	no_errors	ENST00000264159	ensembl	human	known	74_37	missense	18.75	39	9	SNP	1.000	T	T	136103154	C	T	136103154	3	4	87	1	0	0	0	0	1	0	0	0	18272	884	31	1	2660	1	ZRANB3	2	136103154	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	117644	136103154	107096219	285	23409											
LRP1B	53353	genome.wustl.edu	37	chr2	141108458	141108458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagtactccaaataatcaTatctctttgataatatacat	15	15	3	8	0	2	2	1	2	1	0	4	2	3	2	1	0	2	1	1	0	7	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:141108458T>C	ENST00000389484.3	-	77	12771	c.11800A>G	c.(11800-11802)Atg>Gtg	p.M3934V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3934					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAATAATCATATCTCTTTGA	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													95	99	98					2																	141108458		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11800A>G	2.37:g.141108458T>C	ENSP00000374135:p.Met3934Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.M3934V	ENST00000389484.3	37	c.11800	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.30|10.30	1.313015|1.313015	0.23908|0.23908	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90788	.|-2.73	5.48|5.48	4.33|4.33	0.51752|0.51752	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.296768	.|0.36234	.|N	.|0.002712	D|D	0.84826|0.84826	0.5558|0.5558	L|L	0.45137|0.45137	1.4|1.4	0.25049|0.25049	N|N	0.991146|0.991146	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.68473|0.68473	-0.5399|-0.5399	5|10	.|0.16896	.|T	.|0.51	.|.	10.7821|10.7821	0.46384|0.46384	0.0:0.0758:0.0:0.9242|0.0:0.0758:0.0:0.9242	.|.	.|3934	.|Q9NZR2	.|LRP1B_HUMAN	M|V	165|3934;3872	.|ENSP00000374135:M3934V	.|ENSP00000374135:M3934V	I|M	-|-	3|1	3|0	LRP1B|LRP1B	140824928|140824928	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.811000|5.811000	0.69187|0.69187	1.031000|1.031000	0.39867|0.39867	0.533000|0.533000	0.62120|0.62120	ATA|ATG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000168702		0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	62	0	T	NM_018557		141108458	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	36.71	50	29	SNP	1.000	C	C	141108458	T	C	141108458	3	2	87	1	0	0	0	0	1	0	0	0	8990	1406	49	4	2059	4	LRP1B	2	141108458	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	5005304	141108458	102090915	286	23410											
LRP1B	53353	genome.wustl.edu	37	chr2	141208184	141208184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacagtcatccacggtgTcacatttccaccagaatgga	12	8	7	14	1	2	1	2	0	0	1	4	2	4	2	4	2	0	0	4	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:141208184T>C	ENST00000389484.3	-	63	10981	c.10010A>G	c.(10009-10011)gAc>gGc	p.D3337G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3337	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCACGGTGTCACATTTCCA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													127	124	125					2																	141208184		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10010A>G	2.37:g.141208184T>C	ENSP00000374135:p.Asp3337Gly		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.D3337G	ENST00000389484.3	37	c.10010	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	32	5.171336	0.94807	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98732	-5.1	5.51	5.51	0.81932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99579	0.9848	H	0.99464	4.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.97587	1.0114	10	0.66056	D	0.02	.	15.9059	0.79430	0.0:0.0:0.0:1.0	.	3337	Q9NZR2	LRP1B_HUMAN	G	3337;3275	ENSP00000374135:D3337G	ENSP00000374135:D3337G	D	-	2	0	LRP1B	140924654	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.961000	0.87903	2.225000	0.72522	0.477000	0.44152	GAC	LRP1B	-	pfam_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	62	0	T	NM_018557		141208184	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	C	C	141208184	T	C	141208184	3	2	87	1	0	0	0	0	1	0	0	0	8990	1667	58	4	3905	4	LRP1B	2	141208184	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	99726	141208184	101991189	287	23411											
RND3	390	genome.wustl.edu	37	chr2	151326627	151326630	+	Frame_Shift_Del	DEL	TTTA	TTTA	-																															gatttgttccgcttaacgttTttatttgtcttatttacaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTTA	TTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:151326627_151326630delTTTA	ENST00000375734.2	-	5	855_858	c.606_609delTAAA	c.(604-609)aataaafs	p.NK202fs	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Frame_Shift_Del_p.NK73fs|RND3_ENST00000263895.4_Frame_Shift_Del_p.NK202fs	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	202					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GCTTAACGTTTTTATTTGTCTTAT	0.441																																																	0																																										SO:0001589	frameshift_variant	0				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"ras homolog gene family, member E"	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.606_609delTAAA	2.37:g.151326627_151326630delTTTA	ENSP00000364886:p.Asn202fs		D3DP95|P52199	Frame_Shift_Del	DEL	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.N202fs	ENST00000375734.2	37	c.609_606	CCDS2190.1	2																																																																																			RND3	-	NULL	ENSG00000115963		0.441	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RND3	HGNC	protein_coding	OTTHUMT00000254809.1		0	44	0	TTTA	NM_005168		151326630	-1	tier1		no_errors	ENST00000263895	ensembl	human	known	74_37	frame_shift_del	13.51	32	5	DEL	1.000:1.000:1.000:1.000	-	-	151326630	TTTA	-	151326627	7	5	87	1	0	1	0	1	0	0	0	0	13466	1838	64	0	129	0	RND3	2	151326627	Frame_Shift_Del	DEL	TTTA	TCGA-L5-A8NM-01A-11D-A37C-09	10118443	151326627	91872746	288	23412											
NEB	4703	genome.wustl.edu	37	chr2	152544898	152544898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcaccttcatgttttgCtttgtaattcagctgaaaaa	10	17	5	9	0	3	1	3	1	1	0	4	1	3	1	1	0	2	4	1	0	3	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:152544898C>A	ENST00000172853.10	-	25	2470	c.2323G>T	c.(2323-2325)Gca>Tca	p.A775S	NEB_ENST00000409198.1_Missense_Mutation_p.A775S|NEB_ENST00000603639.1_Missense_Mutation_p.A775S|NEB_ENST00000427231.2_Missense_Mutation_p.A775S|NEB_ENST00000604864.1_Missense_Mutation_p.A775S|NEB_ENST00000397345.3_Missense_Mutation_p.A775S			P20929	NEBU_HUMAN	nebulin	775					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATGTTTTGCTTTGTAATTC	0.383																																																	0													142	133	136					2																	152544898		1897	4112	6009	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2323G>T	2.37:g.152544898C>A	ENSP00000172853:p.Ala775Ser		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A775S	ENST00000172853.10	37	c.2323		2	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553816	0.86231	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06933	3.24;3.26;3.25;3.25	5.71	5.71	0.89125	.	0.163209	0.38005	N	0.001853	T	0.07908	0.0198	L	0.31207	0.915	0.80722	D	1	B	0.27971	0.196	B	0.27796	0.083	T	0.37911	-0.9685	10	0.16420	T	0.52	.	16.7855	0.85573	0.0:1.0:0.0:0.0	.	775	P20929	NEBU_HUMAN	S	775	ENSP00000386259:A775S;ENSP00000380505:A775S;ENSP00000416578:A775S;ENSP00000172853:A775S	ENSP00000172853:A775S	A	-	1	0	NEB	152253144	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.383000	0.44354	2.689000	0.91719	0.563000	0.77884	GCA	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.383	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0	57	0	C	NM_004543		152544898	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	A	A	152544898	C	A	152544898	3	1	87	1	0	0	0	0	1	0	0	0	10341	797	28	3	23995	3	NEB	2	152544898	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1218271	152544898	90654475	289	23413											
PRPF40A	55660	genome.wustl.edu	37	chr2	153520287	153520288	+	Splice_Site	INS	-	-	A																															aactacaaatcctttatcctINSaaaaaaaagaaatcttaaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:153520287_153520288insA	ENST00000410080.1	-	19	2513		c.e19-2			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCCTTTATCCTAAAAAAAAGAA	0.252																																																	0																																										SO:0001630	splice_region_variant	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.1972-2->T	2.37:g.153520295_153520295dupA			O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Splice_Site	INS	-	e19-2	ENST00000410080.1	37	c.1972-3_1972-2	CCDS46430.1	2																																																																																			PRPF40A	-	-	ENSG00000196504		0.252	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2		0	49	0	-	XM_371575	Intron	153520288	-1	tier1		no_errors	ENST00000410080	ensembl	human	known	74_37	splice_site_ins	25.53	35	12	INS	1.000:0.141	A	A	153520288	-	A	153520287	8	5	87	1	0	1	1	0	0	0	1	0	12613	1536	53	0	854	0	PRPF40A	2	153520287	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	975389	153520287	89679086	290	23414											
TANC1	85461	genome.wustl.edu	37	chr2	160076366	160076366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggctgccttctatggCgatgccgagactgtgagtac	7	10	13	11	2	1	2	0	1	1	1	1	5	1	2	3	2	3	2	3	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:160076366C>T	ENST00000263635.6	+	22	3903	c.3666C>T	c.(3664-3666)ggC>ggT	p.G1222G	TANC1_ENST00000454300.1_Silent_p.G1116G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1222					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTCTATGGCGATGCCGAGA	0.557																																																	0													83	86	85					2																	160076366		2062	4210	6272	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29364	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3666C>T	2.37:g.160076366C>T			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G1222	ENST00000263635.6	37	c.3666	CCDS42766.1	2																																																																																			TANC1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115183		0.557	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1		0	28	0	C			160076366	1			no_errors	ENST00000263635	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.002	T	T	160076366	C	T	160076366	2	4	87	1	0	0	0	0	0	0	0	1	15591	755	27	1		1	TANC1	2	160076366	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6556079	160076366	83123007	291	23415											
MARCH7	64844	genome.wustl.edu	37	chr2	160604680	160604680	+	Frame_Shift_Del	DEL	T	T	-																															gcttctagcatgtcatctacTtttttttcacgaagatctag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:160604680delT	ENST00000259050.4	+	5	1001	c.879delT	c.(877-879)actfs	p.T293fs	MARCH7_ENST00000409175.1_Frame_Shift_Del_p.T293fs|MARCH7_ENST00000409591.1_Frame_Shift_Del_p.T255fs|MARCH7_ENST00000539065.1_Frame_Shift_Del_p.T237fs	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	293	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGTCATCTACTTTTTTTTCAC	0.393																																																	0													63	64	64					2																	160604680		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.879delT	2.37:g.160604680delT	ENSP00000259050:p.Thr293fs		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S296fs	ENST00000259050.4	37	c.879	CCDS2210.1	2																																																																																			MARCH7	-	NULL	ENSG00000136536		0.393	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3		0	39	0	T	NM_022826		160604680	1	tier1		no_errors	ENST00000259050	ensembl	human	known	74_37	frame_shift_del	23.33	23	7	DEL	0.910	-	-	160604680	T	-	160604680	7	5	87	1	0	1	0	1	0	0	0	0	9344	1596	56	0	893	0	MARCH7	2	160604680	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	528314	160604680	82594693	292	23416											
PLA2R1	22925	genome.wustl.edu	37	chr2	160885468	160885468	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccactgttttactgctcAtgtgctctgaaatgaaaatt	10	15	6	10	0	2	2	1	2	1	0	3	2	3	2	2	0	3	3	2	0	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:160885468A>G	ENST00000283243.7	-	5	1054	c.848T>C	c.(847-849)aTg>aCg	p.M283T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.M283T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	283	C-type lectin 1. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TTTACTGCTCATGTGCTCTGA	0.438																																																	0													82	69	74					2																	160885468		2203	4300	6503	SO:0001583	missense	0			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"C-type lectin domain containing"	9042	protein-coding gene	gene with protein product		604939	"phospholipase A2 receptor 1, 180kD"			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.848T>C	2.37:g.160885468A>G	ENSP00000283243:p.Met283Thr		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.M283T	ENST00000283243.7	37	c.848	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	A	11.18	1.561638	0.27915	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16196	2.36;2.36	5.83	5.83	0.93111	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.236887	0.33346	N	0.005011	T	0.08268	0.0206	N	0.02275	-0.615	0.09310	N	1	B;B;B	0.14012	0.009;0.003;0.004	B;B;B	0.20577	0.03;0.008;0.021	T	0.31392	-0.9945	10	0.22706	T	0.39	.	15.1831	0.72975	1.0:0.0:0.0:0.0	.	283;283;283	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	T	283	ENSP00000283243:M283T;ENSP00000376524:M283T	ENSP00000283243:M283T	M	-	2	0	PLA2R1	160593714	0.318000	0.24598	0.007000	0.13788	0.647000	0.38526	6.081000	0.71309	2.227000	0.72691	0.528000	0.53228	ATG	PLA2R1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000153246		0.438	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	-	0	38	0	A			160885468	-1	tier1	-	no_errors	ENST00000283243	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.018	G	G	160885468	A	G	160885468	3	3	87	1	0	0	0	0	1	0	0	0	12049	217	8	4	3655	4	PLA2R1	2	160885468	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	280788	160885468	82313905	293	23417											
GRB14	2888	genome.wustl.edu	37	chr2	165353548	165353548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccttgctgaataatcaatCgctgagcctcatctctagaa	11	12	7	11	1	3	3	2	2	1	1	6	3	4	3	2	0	2	2	2	0	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:165353548C>T	ENST00000263915.3	-	12	1890	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	GRB14_ENST00000497306.1_5'UTR|GRB14_ENST00000543549.1_Missense_Mutation_p.R364Q	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	451	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AATAATCAATCGCTGAGCCTC	0.373																																																	0													83	78	80					2																	165353548		2203	4300	6503	SO:0001583	missense	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1352G>A	2.37:g.165353548C>T	ENSP00000263915:p.Arg451Gln		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.R451Q	ENST00000263915.3	37	c.1352	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154895	0.57259	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	D;D;D	0.92647	-2.45;-2.45;-3.08	6.05	4.23	0.50019	SH2 motif (5);	0.221304	0.42172	N	0.000760	D	0.84817	0.5556	L	0.27944	0.81	0.37092	D	0.899507	B;B	0.24043	0.09;0.096	B;B	0.17098	0.01;0.017	T	0.83223	-0.0067	10	0.48119	T	0.1	-4.743	8.8432	0.35155	0.0:0.7279:0.0:0.2721	.	364;451	B7Z7F9;Q14449	.;GRB14_HUMAN	Q	451;364;406	ENSP00000263915:R451Q;ENSP00000443699:R364Q;ENSP00000416786:R406Q	ENSP00000263915:R451Q	R	-	2	0	GRB14	165061794	0.217000	0.23597	0.957000	0.39632	0.944000	0.59088	1.496000	0.35638	1.544000	0.49359	0.650000	0.86243	CGA	GRB14	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	ENSG00000115290		0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	-	0	38	0	C			165353548	-1	tier1	-	no_errors	ENST00000263915	ensembl	human	known	74_37	missense	31.58	25	12	SNP	0.893	T	T	165353548	C	T	165353548	3	4	87	1	0	0	0	0	1	0	0	0	6784	884	31	1	282	1	GRB14	2	165353548	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4468080	165353548	77845825	294	23418											
SCN3A	6328	genome.wustl.edu	37	chr2	165948847	165948847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagggagacgagcttcAgcacaaattctccagtgaac	12	8	11	10	1	3	3	1	2	2	1	4	5	3	3	1	1	3	2	1	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:165948847A>G	ENST00000360093.3	-	27	5215	c.4724T>C	c.(4723-4725)cTg>cCg	p.L1575P	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1575P|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1526P|SCN3A_ENST00000540861.1_Missense_Mutation_p.L58P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1575					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACGAGCTTCAGCACAAATTC	0.443																																																	0													157	132	140					2																	165948847		2203	4300	6503	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4724T>C	2.37:g.165948847A>G	ENSP00000353206:p.Leu1575Pro		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.L1575P	ENST00000360093.3	37	c.4724		2	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377821	0.82682	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000014	D	0.99654	0.9872	H	0.99074	4.42	0.80722	D	1	D;D;B	0.89917	1.0;0.999;0.383	D;D;B	0.91635	0.999;0.996;0.14	D	0.97321	0.9944	10	0.87932	D	0	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	1526;1526;1575	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	P	1575;1575;1526;58	ENSP00000353206:L1575P;ENSP00000283254:L1575P;ENSP00000386726:L1526P;ENSP00000439920:L58P	ENSP00000283254:L1575P	L	-	2	0	SCN3A	165657093	1.000000	0.71417	0.992000	0.48379	0.749000	0.42624	7.256000	0.78350	2.333000	0.79357	0.482000	0.46254	CTG	SCN3A	-	pfam_Ion_trans_dom	ENSG00000153253		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		-	0	63	0	A	NM_006922		165948847	-1	tier1	-	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	9.30	78	8	SNP	1.000	G	G	165948847	A	G	165948847	3	3	87	1	0	0	0	0	1	0	0	0	13963	188	7	4	1286	4	SCN3A	2	165948847	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	595299	165948847	77250526	295	23419											
SCN2A	6326	genome.wustl.edu	37	chr2	166171983	166171983	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactttgcgcccttctaggcGgcagctgcagccgcatctgc	5	10	11	15	3	2	0	0	0	2	0	2	0	2	0	2	2	6	4	2	2	2	4	rs145912536		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:166171983G>A	ENST00000375437.2	+	11	1676	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	SCN2A_ENST00000283256.6_Silent_p.A462A|SCN2A_ENST00000357398.3_Silent_p.A462A|SCN2A_ENST00000375427.2_Silent_p.A462A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	462					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCTAGGCGGCAGCTGCAG	0.413																																																	0								G	,,	0,4406		0,0,2203	54	60	58		1386,1386,1386	3.4	1	2	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SCN2A	NM_001040142.1,NM_001040143.1,NM_021007.2	,,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,,	462/2006,462/2006,462/2006	166171983	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10588	protein-coding gene	gene with protein product		182390	"sodium channel, voltage-gated, type II, alpha 2 polypeptide", "sodium channel, voltage-gated, type II, alpha 1 polypeptide"	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1386G>A	2.37:g.166171983G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.A462	ENST00000375437.2	37	c.1386	CCDS33314.1	2																																																																																			SCN2A	-	NULL	ENSG00000136531		0.413	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	-	0	69	0	G	NM_021007		166171983	1	tier1	rs145912536	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	19.05	34	8	SNP	1.000	A	A	166171983	G	A	166171983	2	1	87	1	0	0	0	0	0	0	0	1	13961	1103	39	1		1	SCN2A	2	166171983	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	223136	166171983	77027390	296	23420											
SCN9A	6335	genome.wustl.edu	37	chr2	167055647	167055647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtcaagacaatggatccgGtcaccactaaccatgggcag	13	7	10	11	1	2	1	2	0	0	1	3	2	3	2	3	3	1	1	3	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:167055647G>A	ENST00000409435.1	-	26	5501	c.5502C>T	c.(5500-5502)gaC>gaT	p.D1834D	SCN9A_ENST00000409672.1_Silent_p.D1823D|SCN9A_ENST00000375387.4_Silent_p.D1835D|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.D1835D			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1834					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATGGATCCGGTCACCACTAA	0.463																																																	0													125	125	125					2																	167055647		2203	4300	6503	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5502C>T	2.37:g.167055647G>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.D1835	ENST00000409435.1	37	c.5505	CCDS46441.1	2																																																																																			SCN9A	-	NULL	ENSG00000169432		0.463	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	88	0	G	NM_002977		167055647	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	silent	23.81	64	20	SNP	1.000	A	A	167055647	G	A	167055647	2	1	87	1	0	0	0	0	0	0	0	1	13970	1252	44	3		3	SCN9A	2	167055647	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	883664	167055647	76143726	297	23421											
SCN9A	6335	genome.wustl.edu	37	chr2	167134703	167134703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacatctgctagaaagagctCcactaaacttaaagtcacaa	17	8	5	11	0	2	2	1	0	1	2	3	2	3	2	1	0	3	2	1	0	7	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:167134703C>T	ENST00000409435.1	-	14	2463	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	SCN9A_ENST00000409672.1_Missense_Mutation_p.E811K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E823K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.E823K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	822					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAAGAGCTCCACTAAACTT	0.363																																																	0													81	79	80					2																	167134703		1923	4181	6104	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2464G>A	2.37:g.167134703C>T	ENSP00000386330:p.Glu822Lys		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E823K	ENST00000409435.1	37	c.2467	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041543	0.93685	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000007	D	0.99171	0.9713	H	0.95260	3.645	0.58432	D	0.99999	D	0.67145	0.996	D	0.66351	0.943	D	0.99060	1.0830	10	0.87932	D	0	.	14.4578	0.67428	0.0:0.9266:0.0:0.0734	.	811	E7EUN6	.	K	811;823;823;822	ENSP00000386306:E811K;ENSP00000364536:E823K;ENSP00000304748:E823K;ENSP00000386330:E822K	ENSP00000304748:E823K	E	-	1	0	SCN9A	166842949	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.756000	0.85195	2.583000	0.87209	0.655000	0.94253	GAG	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1		0	63	0	C	NM_002977		167134703	-1			no_errors	ENST00000303354	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	T	T	167134703	C	T	167134703	3	4	87	1	0	0	0	0	1	0	0	0	13970	864	30	3	3554	3	SCN9A	2	167134703	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	79056	167134703	76064670	298	23422											
SCN7A	6332	genome.wustl.edu	37	chr2	167279923	167279924	+	Frame_Shift_Del	DEL	AT	AT	-																															taattgtctttctctgatccAtatatatatcttcaaaagcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:167279923_167279924delAT	ENST00000409855.1	-	18	2998_2999	c.2872_2873delAT	c.(2872-2874)atgfs	p.M958fs		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	958			M -> I (in dbSNP:rs6738031). {ECO:0000269|PubMed:1317577}.		membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCTCTGATCCATATATATATCT	0.277																																																	0																																										SO:0001589	frameshift_variant	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10594	protein-coding gene	gene with protein product		182392	"sodium channel, voltage-gated, type VI, alpha", "sodium channel, voltage-gated, type VII, alpha"	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2872_2873delAT	2.37:g.167279931_167279932delAT	ENSP00000386796:p.Met958fs			Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.M958fs	ENST00000409855.1	37	c.2873_2872	CCDS46442.1	2																																																																																			SCN7A	-	NULL	ENSG00000136546		0.277	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0	32	0	AT			167279924	-1	tier1		no_errors	ENST00000409855	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000:1.000	-	-	167279924	AT	-	167279923	7	5	87	1	0	1	0	1	0	0	0	0	13968	217	8	0	2207	0	SCN7A	2	167279923	Frame_Shift_Del	DEL	AT	TCGA-L5-A8NM-01A-11D-A37C-09	145220	167279923	75919450	299	23423											
LRP2	4036	genome.wustl.edu	37	chr2	170115713	170115713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttccaccctgttagctgCgagaatttctcttcctataa	9	16	5	11	1	1	1	0	0	1	1	4	2	3	1	3	0	2	2	3	0	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:170115713C>T	ENST00000263816.3	-	17	2620	c.2335G>A	c.(2335-2337)Gca>Aca	p.A779T	LRP2_ENST00000443831.1_Missense_Mutation_p.A642T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	779					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CTGTTAGCTGCGAGAATTTCT	0.333																																																	0													82	86	85					2																	170115713		2202	4300	6502	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2335G>A	2.37:g.170115713C>T	ENSP00000263816:p.Ala779Thr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A779T	ENST00000263816.3	37	c.2335	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	8.186	0.794906	0.16327	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94457	-2.75;-3.43	5.77	2.1	0.27182	Six-bladed beta-propeller, TolB-like (1);	0.436617	0.28448	N	0.015320	T	0.80778	0.4688	N	0.01352	-0.895	0.24408	N	0.994671	B;B	0.19331	0.035;0.007	B;B	0.15484	0.013;0.005	T	0.70905	-0.4745	10	0.26408	T	0.33	.	8.6926	0.34275	0.0:0.332:0.0:0.668	.	642;779	E9PC35;P98164	.;LRP2_HUMAN	T	779;642	ENSP00000263816:A779T;ENSP00000409813:A642T	ENSP00000263816:A779T	A	-	1	0	LRP2	169823959	0.995000	0.38212	0.134000	0.22075	0.902000	0.53008	1.485000	0.35519	0.109000	0.17891	0.591000	0.81541	GCA	LRP2	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.333	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	19	0	C	NM_004525		170115713	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.964	T	T	170115713	C	T	170115713	3	4	87	1	0	0	0	0	1	0	0	0	8991	768	27	1	11884	1	LRP2	2	170115713	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2835790	170115713	73083660	300	23424											
KBTBD10	10324	genome.wustl.edu	37	chr2	170371230	170371230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctggattcagtattatgCtatgatcctgtgtaagttgg	8	16	11	6	1	1	1	1	1	0	0	3	2	2	2	1	2	1	5	1	2	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:170371230C>T	ENST00000284669.1	+	2	1334	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C	RP11-724O16.1_ENST00000513963.1_Silent_p.C357C|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Silent_p.C357C	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	419					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CAGTATTATGCTATGATCCTG	0.423																																																	0													154	149	151					2																	170371230		2203	4300	6503	SO:0001819	synonymous_variant	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"Kelch-like", "BTB/POZ domain containing"	16905	protein-coding gene	gene with protein product	"sarcomeric muscle protein"	607701	"kelch repeat and BTB (POZ) domain containing 10", "kelch-like 41 (Drosophila)"	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1257C>T	2.37:g.170371230C>T			Q53R42	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C419	ENST00000284669.1	37	c.1257	CCDS2234.1	2																																																																																			KLHL41	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000239474		0.423	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL41	HGNC	protein_coding	OTTHUMT00000255263.1	-	0	43	0	C	NM_006063		170371230	1	tier1	-	no_errors	ENST00000284669	ensembl	human	known	74_37	silent	10.34	26	3	SNP	1.000	T	T	170371230	C	T	170371230	2	4	87	1	0	0	0	0	0	0	0	1	8017	805	28	3		3	KBTBD10	2	170371230	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	255517	170371230	72828143	301	23425											
PPIG	9360	genome.wustl.edu	37	chr2	170465183	170465183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactttacttctctatagacGagagtttcgctgttaaacac	12	14	6	9	2	1	2	0	0	1	2	3	3	1	2	0	0	3	3	0	0	6	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:170465183G>A	ENST00000260970.3	+	7	512	c.292G>A	c.(292-294)Gag>Aag	p.E98K	PPIG_ENST00000462903.1_Missense_Mutation_p.E98K|PPIG_ENST00000409714.3_Missense_Mutation_p.E83K|PPIG_ENST00000448752.2_Missense_Mutation_p.E98K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	98	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CTCTATAGACGAGAGTTTCGC	0.318																																																	0													72	69	70					2																	170465183		2203	4300	6503	SO:0001583	missense	0			X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"SR-related CTD-associated factor 10"	606093	"peptidyl-prolyl isomerase G (cyclophilin G)"			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.292G>A	2.37:g.170465183G>A	ENSP00000260970:p.Glu98Lys		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E98K	ENST00000260970.3	37	c.292	CCDS2235.1	2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.470099	0.84533	.	.	ENSG00000138398	ENST00000260970;ENST00000530133;ENST00000433207;ENST00000409714;ENST00000462903;ENST00000448752;ENST00000414307	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.06	5.06	0.68205	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	H	0.98388	4.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.997;0.999;0.998	D	0.89420	0.3709	10	0.87932	D	0	-15.6121	18.7797	0.91926	0.0:0.0:1.0:0.0	.	94;83;83;98;98	C9JM79;E9PG73;Q2NKQ6;Q13427-2;Q13427	.;.;.;.;PPIG_HUMAN	K	98;98;94;83;98;98;98	ENSP00000260970:E98K;ENSP00000408683:E94K;ENSP00000386245:E83K;ENSP00000435987:E98K;ENSP00000407083:E98K;ENSP00000402222:E98K	ENSP00000260970:E98K	E	+	1	0	PPIG	170173429	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.779000	0.99018	2.495000	0.84180	0.585000	0.79938	GAG	PPIG	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	ENSG00000138398		0.318	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIG	HGNC	protein_coding	OTTHUMT00000255264.2	-	0	52	0	G			170465183	1	tier1	-	no_errors	ENST00000260970	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	170465183	G	A	170465183	3	1	87	1	0	0	0	0	1	0	0	0	12366	1059	37	1	310	1	PPIG	2	170465183	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	93953	170465183	72734190	302	23426											
ITGA6	3655	genome.wustl.edu	37	chr2	173368930	173368931	+	Frame_Shift_Ins	INS	-	-	A																															aaagtatattgataaccttgINSaaaaaaaacagtggatcaca																								rs201055917	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:173368930_173368931insA	ENST00000264106.6	+	26	3546_3547	c.3343_3344insA	c.(3343-3345)gaafs	p.E1115fs	ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000409080.1_Frame_Shift_Ins_p.E1076fs|AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000264107.7_3'UTR|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	1115					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGATAACCTTGAAAAAAAACAG	0.406													AaAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	6	0.00119808	0	0	5008	,	,		17705	0.005		0	False		,,,				2504	0.001																0																																										SO:0001589	frameshift_variant	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3351dupA	2.37:g.173368938_173368938dupA	ENSP00000264106:p.Glu1115fs		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q1118fs	ENST00000264106.6	37	c.3343_3344		2																																																																																			ITGA6	-	NULL	ENSG00000091409		0.406	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding			0	32	0	-			173368931	1	tier1		no_errors	ENST00000264106	ensembl	human	known	74_37	frame_shift_ins	16.22	31	6	INS	1.000:1.000	A	A	173368931	-	A	173368930	7	5	87	1	0	1	1	0	0	0	0	0	7907	1291	45	0	3436	0	ITGA6	2	173368930	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2903747	173368930	69830443	303	23427											
RAPGEF4	11069	genome.wustl.edu	37	chr2	173885367	173885367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggtggtgctcaaacctaAtgatgtttcagtatttacga	13	13	9	6	1	2	1	2	1	0	0	2	2	2	1	1	2	3	3	1	2	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:173885367A>G	ENST00000397081.3	+	23	2320	c.2177A>G	c.(2176-2178)aAt>aGt	p.N726S	RAPGEF4_ENST00000535187.1_Missense_Mutation_p.N506S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.N726S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.N573S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.N573S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.N555S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.N582S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.N725S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	726					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTCAAACCTAATGATGTTTCA	0.438																																																	0													242	227	232					2																	173885367		1928	4139	6067	SO:0001583	missense	0			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"cAMP-regulated guanine nucleotide exchange factor II", " exchange protein directly activated by cAMP 2"	606058	"RAP guanine-nucleotide-exchange factor (GEF) 4"			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2177A>G	2.37:g.173885367A>G	ENSP00000380271:p.Asn726Ser		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.N726S	ENST00000397081.3	37	c.2177	CCDS42775.1	2	.	.	.	.	.	.	.	.	.	.	A	15.89	2.966323	0.53507	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187	T;T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.95	5.95	0.96441	Ras-association (1);Ras guanine nucleotide exchange factor, domain (1);	0.043512	0.85682	D	0.000000	T	0.17238	0.0414	L	0.35793	1.09	0.53688	D	0.999975	B;B	0.13594	0.008;0.005	B;B	0.15484	0.012;0.013	T	0.01800	-1.1271	10	0.46703	T	0.11	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	582;726	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	S	725;726;726;582;555;573;573;506	ENSP00000264111:N725S;ENSP00000380271:N726S;ENSP00000387104:N726S;ENSP00000380276:N582S;ENSP00000440135:N555S;ENSP00000440250:N573S;ENSP00000437384:N573S;ENSP00000438011:N506S	ENSP00000264111:N725S	N	+	2	0	RAPGEF4	173593613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.729000	0.68538	2.279000	0.76181	0.533000	0.62120	AAT	RAPGEF4	-	pfam_Ras-assoc,superfamily_Ras_GEF_dom	ENSG00000091428		0.438	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF4	HGNC	protein_coding	OTTHUMT00000257864.2	-	0	59	0	A	NM_007023		173885367	1	tier1	-	no_errors	ENST00000397081	ensembl	human	known	74_37	missense	30.91	38	17	SNP	1.000	G	G	173885367	A	G	173885367	3	3	87	1	0	0	0	0	1	0	0	0	13091	101	4	4	2283	4	RAPGEF4	2	173885367	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	516437	173885367	69314006	304	23428											
HOXD8	3234	genome.wustl.edu	37	chr2	176996151	176996151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaccaggaaaagaagaatCgaggtttcccacgccctagc	13	6	10	12	2	0	3	0	1	0	2	2	5	1	4	3	2	1	1	3	2	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:176996151C>T	ENST00000313173.4	+	2	1311	c.684C>T	c.(682-684)atC>atT	p.I228I	HOXD8_ENST00000450510.2_Silent_p.I227I|HOXD8_ENST00000429017.1_Silent_p.I44I|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Silent_p.I227I|HOXD8_ENST00000548663.1_Silent_p.I124I	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	228					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAAGAAGAATCGAGGTTTCCC	0.433																																																	0													154	179	171					2																	176996151		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"Homeoboxes / ANTP class : HOXL subclass"	5139	protein-coding gene	gene with protein product		142985	"homeo box D8"	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.684C>T	2.37:g.176996151C>T			F8WBG7|Q5BL00|Q8IXZ1	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.I228	ENST00000313173.4	37	c.684	CCDS2268.1	2																																																																																			HOXD8	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	ENSG00000175879		0.433	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HOXD8	HGNC	protein_coding	OTTHUMT00000255694.1	-	0	40	0	C			176996151	1	tier1	-	no_errors	ENST00000313173	ensembl	human	known	74_37	silent	15.79	48	9	SNP	1.000	T	T	176996151	C	T	176996151	2	4	87	1	0	0	0	0	0	0	0	1	7352	874	31	1		1	HOXD8	2	176996151	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3110784	176996151	66203222	305	23429											
PLEKHA3	65977	genome.wustl.edu	37	chr2	179350399	179350399	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggtttgttttagataaTggaatcttatcctactatga	10	18	8	5	1	1	2	0	1	1	1	2	3	2	3	1	2	1	3	1	2	6	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179350399T>C	ENST00000234453.5	+	2	474	c.72T>C	c.(70-72)aaT>aaC	p.N24N	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	24	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			TTTTAGATAATGGAATCTTAT	0.348																																																	0													120	118	119					2																	179350399		2203	4300	6503	SO:0001819	synonymous_variant	0			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"Pleckstrin homology (PH) domain containing"	14338	protein-coding gene	gene with protein product	"four-phosphate-adaptor protein 1"	607774	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.72T>C	2.37:g.179350399T>C			Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N24	ENST00000234453.5	37	c.72	CCDS33336.1	2																																																																																			PLEKHA3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000116095		0.348	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA3	HGNC	protein_coding	OTTHUMT00000335241.2	-	0	26	0	T	NM_019091		179350399	1	tier1	-	no_errors	ENST00000234453	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	C	C	179350399	T	C	179350399	2	2	87	1	0	0	0	0	0	0	0	1	12096	1461	51	4		4	PLEKHA3	2	179350399	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2354248	179350399	63848974	306	23430											
TTN	7273	genome.wustl.edu	37	chr2	179411075	179411075	+	Frame_Shift_Del	DEL	T	T	-																															ccagtatactgcaaagagacTttttcacagagatctagctc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179411075delT	ENST00000591111.1	-	292	90284	c.90060delA	c.(90058-90060)aaafs	p.K30020fs	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K22721fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.K22788fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K31661fs|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K29093fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.K22596fs|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30020	Ig-like 136.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAGAGACTTTTTCACAGA	0.443																																																	0													153	150	151					2																	179411075		1934	4139	6073	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90060delA	2.37:g.179411075delT	ENSP00000465570:p.Lys30020fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V29094fs	ENST00000591111.1	37	c.87279		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	43	0	T	NM_133378		179411075	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	frame_shift_del	19.05	34	8	DEL	1.000	0	-	179411075	T	-	179411075	7	5	87	1	0	1	0	1	0	0	0	0	16784	1606	56	0	13080	0	TTN	2	179411075	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	60676	179411075	63788298	307	23431											
TTN	7273	genome.wustl.edu	37	chr2	179560737	179560737	+	Frame_Shift_Del	DEL	T	T	-																															tcccattcctcgtgaacttcTtttttagcttctaccttaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179560737delT	ENST00000591111.1	-	112	30335	c.30111delA	c.(30109-30111)aaafs	p.K10037fs	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.K10354fs|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K9110fs|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			cgtgaacttcttttttagctt	0.413																																																	0													174	153	160					2																	179560737		1491	3208	4699	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30111delA	2.37:g.179560737delT	ENSP00000465570:p.Lys10037fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E9111fs	ENST00000591111.1	37	c.27330		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	89	0	T	NM_133378		179560737	-1	tier1		no_errors	ENST00000342992	ensembl	human	known	74_37	frame_shift_del	24.39	62	20	DEL	0.016	-	-	179560737	T	-	179560737	7	5	87	1	0	1	0	1	0	0	0	0	16784	1606	56	0	73463	0	TTN	2	179560737	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	149662	179560737	63638636	308	23432											
TTN	7273	genome.wustl.edu	37	chr2	179587594	179587594	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggtgtcccagcaacttgGcattgtaaagaaaccgaatc	12	10	9	10	1	1	1	0	0	1	1	3	2	2	1	2	2	3	3	2	2	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179587594G>C	ENST00000591111.1	-	74	21305	c.21081C>G	c.(21079-21081)tgC>tgG	p.C7027W	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.C7344W|TTN_ENST00000342992.6_Missense_Mutation_p.C6100W|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12611	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCAACTTGGCATTGTAAAG	0.443																																																	0													48	49	49					2																	179587594		1972	4156	6128	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21081C>G	2.37:g.179587594G>C	ENSP00000465570:p.Cys7027Trp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.C6100W	ENST00000591111.1	37	c.18300		2	.	.	.	.	.	.	.	.	.	.	G	7.947	0.744032	0.15710	.	.	ENSG00000155657	ENST00000342992	T	0.63096	-0.02	5.8	3.99	0.46301	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85557	0.5724	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88178	0.2869	9	0.87932	D	0	.	9.1968	0.37233	0.2767:0.0:0.7233:0.0	.	7027	Q8WZ42	TITIN_HUMAN	W	6100	ENSP00000343764:C6100W	ENSP00000343764:C6100W	C	-	3	2	TTN	179295839	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.193000	0.42658	1.444000	0.47605	0.650000	0.86243	TGC	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	68	0	G	NM_133378		179587594	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	179587594	G	C	179587594	3	2	87	1	0	0	0	0	1	0	0	0	16784	1195	42	5	82645	5	TTN	2	179587594	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	26857	179587594	63611779	309	23433											
TTN	7273	genome.wustl.edu	37	chr2	179616234	179616234	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaacctcaggtcaaccttTatcctatcttctcccctttc	8	15	3	15	0	4	0	2	0	2	0	7	0	5	0	5	1	2	1	5	1	5	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:179616234T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I3631M|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTCAACCTTTATCCTATCTT	0.373																																																	0													158	153	155					2																	179616234		2203	4300	6503	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1616A>G	2.37:g.179616234T>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I3631M	ENST00000591111.1	37	c.10893		2	.	.	.	.	.	.	.	.	.	.	T	4.067	0.010313	0.07912	.	.	ENSG00000155657	ENST00000360870	T	0.59772	0.24	5.58	0.318	0.15867	.	.	.	.	.	T	0.33527	0.0866	N	0.12182	0.205	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.05225	-1.0898	9	0.40728	T	0.16	.	6.2624	0.20907	0.1183:0.365:0.0:0.5167	.	3631	Q8WZ42-6	.	M	3631	ENSP00000354117:I3631M	ENSP00000354117:I3631M	I	-	3	3	TTN	179324479	0.889000	0.30405	0.797000	0.32132	0.556000	0.35491	-0.052000	0.11865	0.112000	0.17975	-0.256000	0.11100	ATA	TTN	-	NULL	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	41	0	T	NM_133378		179616234	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.920	C	C	179616234	T	C	179616234	1	2	87	0	1	0	0	0	0	0	0	0	16784	1744	61	4		4	TTN	2	179616234	Intron	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	28640	179616234	63583139	310	23434											
NEUROD1	4760	genome.wustl.edu	37	chr2	182542972	182542972	+	Frame_Shift_Del	DEL	G	G	-																															agcgctggccgtcggcaggtGggggggcatgtcctggttct																								rs201174472		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:182542972delG	ENST00000295108.3	-	2	1073	c.616delC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	206					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTCGGCAGGTGGGGGGGCATG	0.617																																																	0																																										SO:0001589	frameshift_variant	0			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"Basic helix-loop-helix proteins"	7762	protein-coding gene	gene with protein product	"beta-cell E-box transactivator 2", "neurogenic helix-loop-helix protein NEUROD"	601724	"neurogenic differentiation 1"	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.616delC	2.37:g.182542972delG	ENSP00000295108:p.His206fs		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Frame_Shift_Del	DEL	pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom	p.H206fs	ENST00000295108.3	37	c.616	CCDS2283.1	2																																																																																			NEUROD1	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD	ENSG00000162992		0.617	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2		0	52	0	G	NM_002500		182542972	-1	tier1		no_errors	ENST00000295108	ensembl	human	known	74_37	frame_shift_del	13.64	38	6	DEL	0.996	-	-	182542972	G	-	182542972	7	5	87	1	0	1	0	1	0	0	0	0	10387	1348	47	0	458	0	NEUROD1	2	182542972	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	2926738	182542972	60656401	311	23435											
GLS	2744	genome.wustl.edu	37	chr2	191765292	191765292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttacattctacagatGtgttcagagcaacattgttt	10	18	6	7	0	3	2	1	0	2	2	3	2	3	2	0	0	4	3	0	0	3	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:191765292G>T	ENST00000320717.3	+	4	866	c.608G>T	c.(607-609)tGt>tTt	p.C203F	GLS_ENST00000338435.4_Missense_Mutation_p.C203F	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	203					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TTCTACAGATGTGTTCAGAGC	0.284																																																	0													93	89	90					2																	191765292		2202	4298	6500	SO:0001583	missense	0			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"Ankyrin repeat domain containing"	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.608G>T	2.37:g.191765292G>T	ENSP00000317379:p.Cys203Phe		Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.C203F	ENST00000320717.3	37	c.608	CCDS2308.1	2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067961	0.76301	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.49432	0.91;0.78	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.77103	2.36	0.80722	D	1	P;P	0.41366	0.747;0.706	B;B	0.42882	0.143;0.401	T	0.64257	-0.6450	10	0.72032	D	0.01	-13.3633	19.956	0.97218	0.0:0.0:1.0:0.0	.	203;203	O94925;O94925-3	GLSK_HUMAN;.	F	203	ENSP00000317379:C203F;ENSP00000340689:C203F	ENSP00000317379:C203F	C	+	2	0	GLS	191473537	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.792000	0.99085	2.788000	0.95919	0.557000	0.71058	TGT	GLS	-	NULL	ENSG00000115419		0.284	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	-	0	50	0	G			191765292	1	tier1	-	no_errors	ENST00000320717	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	191765292	G	T	191765292	3	4	87	1	0	0	0	0	1	0	0	0	6489	1377	48	3	622	3	GLS	2	191765292	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	9222320	191765292	51434081	312	23436											
STAT1	6772	genome.wustl.edu	37	chr2	191873795	191873795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacaggaggtcatgaaaaCggatggtggcaaatgaaaca	16	6	14	5	1	1	3	1	3	0	0	1	5	1	5	0	5	2	1	0	5	4	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:191873795C>T	ENST00000361099.3	-	4	554	c.167G>A	c.(166-168)cGt>cAt	p.R56H	STAT1_ENST00000392322.3_Missense_Mutation_p.R56H|STAT1_ENST00000540176.1_Missense_Mutation_p.R56H|STAT1_ENST00000409465.1_Missense_Mutation_p.R56H|STAT1_ENST00000392323.2_Missense_Mutation_p.R58H	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	56					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			GTCATGAAAACGGATGGTGGC	0.378																																																	0													118	111	113					2																	191873795		2203	4300	6503	SO:0001583	missense	0				CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"SH2 domain containing"	11362	protein-coding gene	gene with protein product	"transcription factor ISGF-3 components p91/p84"	600555	"signal transducer and activator of transcription 1, 91kD"			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.167G>A	2.37:g.191873795C>T	ENSP00000354394:p.Arg56His		A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.R56H	ENST00000361099.3	37	c.167	CCDS2309.1	2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591477	0.66219	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414;ENST00000432058	T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.52	1.39	0.22231	STAT transcription factor, protein interaction (4);	0.404736	0.26991	N	0.021479	T	0.61540	0.2355	M	0.65975	2.015	0.09310	N	1	D;D	0.76494	0.999;0.997	P;P	0.58873	0.847;0.846	T	0.62229	-0.6898	10	0.72032	D	0.01	-3.9781	16.1247	0.81383	0.7444:0.2555:0.0:0.0	.	56;56	P42224-2;P42224	.;STAT1_HUMAN	H	56;56;56;56;58;56;56;56	ENSP00000354394:R56H;ENSP00000386244:R56H;ENSP00000438703:R56H;ENSP00000376136:R56H;ENSP00000376137:R58H;ENSP00000402548:R56H;ENSP00000411398:R56H;ENSP00000416019:R56H	ENSP00000354394:R56H	R	-	2	0	STAT1	191582040	0.501000	0.26099	0.790000	0.31976	0.799000	0.45148	2.048000	0.41278	-0.038000	0.13624	0.557000	0.71058	CGT	STAT1	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000115415		0.378	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT1	HGNC	protein_coding	OTTHUMT00000255997.3	-	0	58	0	C	NM_007315		191873795	-1	tier1	-	no_errors	ENST00000361099	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.003	T	T	191873795	C	T	191873795	3	4	87	1	0	0	0	0	1	0	0	0	15311	536	19	1	2177	1	STAT1	2	191873795	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	108503	191873795	51325578	313	23437											
TMEFF2	23671	genome.wustl.edu	37	chr2	193049181	193049181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtagctctccccattggagCcacacacaggcacatagtca	11	7	9	14	0	2	0	1	0	1	0	3	1	2	1	3	3	2	3	3	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:193049181C>T	ENST00000272771.5	-	3	1495	c.311G>A	c.(310-312)gGc>gAc	p.G104D	TMEFF2_ENST00000392314.1_Missense_Mutation_p.G104D|TMEFF2_ENST00000409056.3_Missense_Mutation_p.G104D	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	104	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CCCATTGGAGCCACACACAGG	0.473																																					Pancreas(50;1277 1381 28487 47072)												0													153	123	133					2																	193049181		2203	4300	6503	SO:0001583	missense	0			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.311G>A	2.37:g.193049181C>T	ENSP00000272771:p.Gly104Asp		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.G104D	ENST00000272771.5	37	c.311	CCDS2314.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.173075	0.94807	.	.	ENSG00000144339	ENST00000392314;ENST00000272771;ENST00000409056	D;D;D	0.89875	-2.58;-2.58;-2.58	5.57	5.57	0.84162	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	D	0.97216	0.9090	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.98638	1.0674	10	0.87932	D	0	-14.1013	19.5292	0.95222	0.0:1.0:0.0:0.0	.	104;104	Q9UIK5-3;Q9UIK5	.;TEFF2_HUMAN	D	104	ENSP00000376128:G104D;ENSP00000272771:G104D;ENSP00000386871:G104D	ENSP00000272771:G104D	G	-	2	0	TMEFF2	192757426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.625000	0.88918	0.591000	0.81541	GGC	TMEFF2	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000144339		0.473	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	-	0	42	0	C	NM_016192		193049181	-1	tier1	-	no_errors	ENST00000272771	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	193049181	C	T	193049181	3	4	87	1	0	0	0	0	1	0	0	0	16061	739	26	3	845	3	TMEFF2	2	193049181	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1175386	193049181	50150192	314	23438											
PGAP1	80055	genome.wustl.edu	37	chr2	197712754	197712754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatggtagcatattctaaGcaacaacctggtgatttaaa	16	11	7	7	0	1	1	0	1	1	0	1	1	1	1	1	2	5	3	1	2	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:197712754G>A	ENST00000354764.4	-	21	1983	c.1869C>T	c.(1867-1869)tgC>tgT	p.C623C	PGAP1_ENST00000409475.1_Missense_Mutation_p.A592V	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	623					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CATATTCTAAGCAACAACCTG	0.303																																																	0													103	103	103					2																	197712754		2202	4290	6492	SO:0001819	synonymous_variant	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"GPI inositol-deacylase"	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1869C>T	2.37:g.197712754G>A			Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.A592V	ENST00000354764.4	37	c.1775	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520455	0.44866	.	.	ENSG00000197121	ENST00000409475	.	.	.	4.09	2.07	0.26955	.	.	.	.	.	T	0.45175	0.1329	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.42982	-0.9419	7	0.54805	T	0.06	-8.2384	8.2903	0.31954	0.3554:0.0:0.6446:0.0	.	592	Q75T13-3	.	V	592	.	ENSP00000387028:A592V	A	-	2	0	PGAP1	197420999	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.937000	0.28951	0.918000	0.36919	0.655000	0.94253	GCT	PGAP1	-	NULL	ENSG00000197121		0.303	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	-	0	52	0	G	NM_024989		197712754	-1	tier1	-	no_errors	ENST00000409475	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	A	A	197712754	G	A	197712754	2	1	87	1	0	0	0	0	0	0	0	1	11816	963	34	3		3	PGAP1	2	197712754	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4663573	197712754	45486619	315	23439											
NBEAL1	65065	genome.wustl.edu	37	chr2	204058623	204058623	+	Frame_Shift_Del	DEL	T	T	-																															accttcctgaactcaagtcaTtttttatagaggtaatatcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:204058623delT	ENST00000449802.1	+	46	7273	c.6940delT	c.(6940-6942)tttfs	p.F2315fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2315										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCAAGTCATTTTTTATAGA	0.338																																																	0													125	124	125					2																	204058623		1837	4078	5915	SO:0001589	frameshift_variant	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6940delT	2.37:g.204058623delT	ENSP00000399903:p.Phe2315fs		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Frame_Shift_Del	DEL	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F2315fs	ENST00000449802.1	37	c.6940	CCDS46495.1	2																																																																																			NBEAL1	-	NULL	ENSG00000144426		0.338	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4		0	39	0	T			204058623	1	tier1		no_errors	ENST00000449802	ensembl	human	known	74_37	frame_shift_del	21.15	41	11	DEL	1.000	-	-	204058623	T	-	204058623	7	5	87	1	0	1	0	1	0	0	0	0	10226	1493	52	0	7118	0	NBEAL1	2	204058623	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	6345869	204058623	39140750	316	23440											
RAPH1	65059	genome.wustl.edu	37	chr2	204309641	204309641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccaggcttcagagaataCggagctcacaatgctctggg	10	10	11	10	1	3	1	2	0	1	1	4	3	4	2	1	3	3	3	1	3	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:204309641C>T	ENST00000319170.5	-	13	2025	c.1726G>A	c.(1726-1728)Gta>Ata	p.V576I	RAPH1_ENST00000308091.4_Missense_Mutation_p.V628I|RAPH1_ENST00000439222.1_Missense_Mutation_p.V601I|RAPH1_ENST00000418114.1_Missense_Mutation_p.V576I|RAPH1_ENST00000374493.3_Missense_Mutation_p.V628I|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000419464.1_Missense_Mutation_p.V576I|RAPH1_ENST00000453034.1_Missense_Mutation_p.V628I|RAPH1_ENST00000374489.2_Missense_Mutation_p.V603I|RAPH1_ENST00000457812.1_Missense_Mutation_p.V576I|RAPH1_ENST00000374488.2_Missense_Mutation_p.V601I|RAPH1_ENST00000423104.1_Missense_Mutation_p.V603I	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	576					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCAGAGAATACGGAGCTCACA	0.463																																																	0													137	136	136					2																	204309641		2203	4300	6503	SO:0001583	missense	0			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"Pleckstrin homology (PH) domain containing"	14436	protein-coding gene	gene with protein product	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"	609035	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1726G>A	2.37:g.204309641C>T	ENSP00000316543:p.Val576Ile		Q96Q37|Q9C0I2	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin	p.V628I	ENST00000319170.5	37	c.1882	CCDS2359.1	2	.	.	.	.	.	.	.	.	.	.	C	5.511	0.279248	0.10458	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201	T;T;T;T;T;T;T;T;T;T;T	0.39406	1.08;2.02;2.02;1.1;1.14;1.16;1.14;1.08;1.1;1.17;1.08	5.3	1.63	0.23807	.	0.112997	0.39475	N	0.001359	T	0.14399	0.0348	N	0.02721	-0.515	0.19775	N	0.999953	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.34304	-0.9834	10	0.02654	T	1	-9.9014	9.2308	0.37437	0.0:0.2081:0.0:0.7919	.	628;628;576	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	I	576;576;628;603;601;628;601;576;603;628;601;576;603	ENSP00000392854:V576I;ENSP00000316543:V576I;ENSP00000363617:V628I;ENSP00000363613:V603I;ENSP00000363612:V601I;ENSP00000311293:V628I;ENSP00000411138:V601I;ENSP00000390578:V576I;ENSP00000397751:V603I;ENSP00000406662:V628I;ENSP00000396711:V576I	ENSP00000311293:V628I	V	-	1	0	RAPH1	204017886	1.000000	0.71417	0.998000	0.56505	0.906000	0.53458	4.293000	0.59037	0.039000	0.15632	-0.417000	0.06048	GTA	RAPH1	-	superfamily_Kinase-like_dom	ENSG00000173166		0.463	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPH1	HGNC	protein_coding	OTTHUMT00000256363.2	-	0	69	0	C	NM_025252		204309641	-1	tier1	-	no_errors	ENST00000374493	ensembl	human	known	74_37	missense	33.87	41	21	SNP	1.000	T	T	204309641	C	T	204309641	3	4	87	1	0	0	0	0	1	0	0	0	13095	536	19	1	2041	1	RAPH1	2	204309641	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	251018	204309641	38889732	317	23441											
PLEKHM3	389072	genome.wustl.edu	37	chr2	208841894	208841894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtggcagcagcccactggTtttcttctggaaactatgat	8	12	11	10	1	2	1	0	1	2	0	2	2	2	2	1	4	3	3	1	4	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:208841894T>C	ENST00000427836.2	-	3	1516	c.1027A>G	c.(1027-1029)Acc>Gcc	p.T343A	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.T343A|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.T343A	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	343					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCCCACTGGTTTTCTTCTGG	0.512																																																	0													104	104	104					2																	208841894		1957	4154	6111	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"Pleckstrin homology (PH) domain containing"	34006	protein-coding gene	gene with protein product	"differentiation associated protein"		"pleckstrin homology domain containing, family M, member 1-like"	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1027A>G	2.37:g.208841894T>C	ENSP00000417003:p.Thr343Ala		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T343A	ENST00000427836.2	37	c.1027	CCDS42808.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.436|0.436	-0.901097|-0.901097	0.02453|0.02453	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000447645|ENST00000427836;ENST00000389247;ENST00000457206	.|T;T;T	.|0.12147	.|2.71;2.71;2.71	5.82|5.82	-6.85|-6.85	0.01681|0.01681	.|.	.|1.542140	.|0.03154	.|N	.|0.168379	T|T	0.05777|0.05777	0.0151|0.0151	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.29549|0.29549	-1.0008|-1.0008	5|10	.|0.48119	.|T	.|0.1	.|.	2.6315|2.6315	0.04946|0.04946	0.1667:0.3058:0.3451:0.1824|0.1667:0.3058:0.3451:0.1824	.|.	.|343;343	.|C9J119;Q6ZWE6	.|.;PKHM3_HUMAN	S|A	94|343	.|ENSP00000417003:T343A;ENSP00000373899:T343A;ENSP00000400150:T343A	.|ENSP00000373899:T343A	N|T	-|-	2|1	0|0	PLEKHM3|PLEKHM3	208550139|208550139	0.868000|0.868000	0.29978|0.29978	0.009000|0.009000	0.14445|0.14445	0.017000|0.017000	0.09413|0.09413	0.296000|0.296000	0.19083|0.19083	-1.618000|-1.618000	0.01568|0.01568	-1.162000|-1.162000	0.01777|0.01777	AAC|ACC	PLEKHM3	-	NULL	ENSG00000178385		0.512	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1		0	34	0	T	NM_001080475		208841894	-1			no_errors	ENST00000427836	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.000	C	C	208841894	T	C	208841894	3	2	87	1	0	0	0	0	1	0	0	0	12121	1725	60	4	1282	4	PLEKHM3	2	208841894	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	4532253	208841894	34357479	318	23442											
ERBB4	2066	genome.wustl.edu	37	chr2	213403245	213403245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagacccaaagtcctgtcgCcggcttcattttttggaagt	8	12	9	12	2	1	1	1	0	0	1	3	2	2	2	4	2	0	1	4	2	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:213403245C>T	ENST00000342788.4	-	1	320	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	ERBB4_ENST00000436443.1_Missense_Mutation_p.A4T|ERBB4_ENST00000402597.1_Missense_Mutation_p.A4T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	4					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AGTCCTGTCGCCGGCTTCATT	0.612										TSP Lung(8;0.080)																																							0													61	76	71					2																	213403245		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.10G>A	2.37:g.213403245C>T	ENSP00000342235:p.Ala4Thr		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A4T	ENST00000342788.4	37	c.10	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	6.173	0.400172	0.11696	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.74947	-0.87;-0.89;-0.87	5.87	4.94	0.65067	.	0.186351	0.32785	N	0.005647	T	0.52008	0.1708	N	0.08118	0	0.27738	N	0.944564	B;B;B;B	0.18310	0.027;0.01;0.027;0.016	B;B;B;B	0.18263	0.021;0.007;0.021;0.009	T	0.30504	-0.9976	10	0.13470	T	0.59	.	12.2102	0.54375	0.0:0.8291:0.1709:0.0	.	4;4;4;4	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	T	4	ENSP00000342235:A4T;ENSP00000403204:A4T;ENSP00000385565:A4T	ENSP00000342235:A4T	A	-	1	0	ERBB4	213111490	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	1.946000	0.40283	2.800000	0.96347	0.456000	0.33151	GCG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000178568		0.612	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	170	0	C	NM_001042599		213403245	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	11.36	117	15	SNP	1.000	T	T	213403245	C	T	213403245	3	4	87	1	0	0	0	0	1	0	0	0	5225	739	26	3	4028	3	ERBB4	2	213403245	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4561351	213403245	29796128	319	23443											
SPAG16	79582	genome.wustl.edu	37	chr2	214160791	214160791	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacaagatattcagaggTcaccataactgaagcatctg	14	10	8	9	0	3	4	2	2	1	2	3	4	3	4	1	1	2	1	1	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:214160791T>A	ENST00000331683.5	+	2	235	c.140T>A	c.(139-141)gTc>gAc	p.V47D	SPAG16_ENST00000374309.3_5'Flank|SPAG16_ENST00000432529.2_Missense_Mutation_p.V47D|SPAG16_ENST00000272898.7_Missense_Mutation_p.V47D|SPAG16_ENST00000413312.1_Intron|SPAG16_ENST00000447990.1_Missense_Mutation_p.V47D|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	47					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATTCAGAGGTCACCATAACT	0.274																																																	0													87	94	92					2																	214160791		2202	4291	6493	SO:0001583	missense	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"WD repeat domain containing"	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.140T>A	2.37:g.214160791T>A	ENSP00000332592:p.Val47Asp		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V47D	ENST00000331683.5	37	c.140	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637471	0.67130	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000272898;ENST00000447990	T	0.58210	0.35	5.27	5.27	0.74061	.	0.423293	0.20541	N	0.090317	T	0.67258	0.2874	L	0.58101	1.795	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.72075	0.905;0.976;0.976	T	0.69591	-0.5104	10	0.87932	D	0	.	11.8581	0.52451	0.0:0.0:0.0:1.0	.	47;47;47	Q8N0X2;E7EWV3;Q8N0X2-4	SPG16_HUMAN;.;.	D	47	ENSP00000332592:V47D	ENSP00000272898:V47D	V	+	2	0	SPAG16	213869036	1.000000	0.71417	0.782000	0.31804	0.945000	0.59286	4.485000	0.60279	2.099000	0.63709	0.477000	0.44152	GTC	SPAG16	-	NULL	ENSG00000144451		0.274	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	-	0	92	0	T	NM_024532		214160791	1	tier1	-	no_errors	ENST00000331683	ensembl	human	known	74_37	missense	15.48	71	13	SNP	0.828	A	A	214160791	T	A	214160791	3	1	87	1	0	0	0	0	1	0	0	0	15025	1667	58	5	146	5	SPAG16	2	214160791	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	757546	214160791	29038582	320	23444											
FN1	2335	genome.wustl.edu	37	chr2	216256480	216256480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggtggagcccaggtgAcacgcatggtgtctggacca	8	7	17	9	1	1	1	0	1	1	0	1	3	1	3	2	6	1	1	2	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:216256480A>G	ENST00000359671.1	-	25	4119	c.3854T>C	c.(3853-3855)gTc>gCc	p.V1285A	FN1_ENST00000345488.5_Missense_Mutation_p.V1285A|FN1_ENST00000357867.4_Missense_Mutation_p.V1285A|FN1_ENST00000446046.1_Missense_Mutation_p.V1285A|FN1_ENST00000443816.1_Missense_Mutation_p.V1285A|FN1_ENST00000356005.4_Missense_Mutation_p.V1285A|FN1_ENST00000354785.4_Missense_Mutation_p.V1376A|FN1_ENST00000323926.6_Missense_Mutation_p.V1376A|FN1_ENST00000432072.2_Missense_Mutation_p.V1376A|FN1_ENST00000421182.1_Missense_Mutation_p.V1285A|FN1_ENST00000346544.3_Missense_Mutation_p.V1285A|FN1_ENST00000357009.2_Missense_Mutation_p.V1285A|FN1_ENST00000336916.4_Missense_Mutation_p.V1285A			P02751	FINC_HUMAN	fibronectin 1	1285	Cell-attachment.|Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGCCCAGGTGACACGCATGGT	0.463																																																	0													114	108	110					2																	216256480		2203	4300	6503	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3854T>C	2.37:g.216256480A>G	ENSP00000352696:p.Val1285Ala		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.V1376A	ENST00000359671.1	37	c.4127		2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986740	0.74589	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24;-0.03	5.61	5.61	0.85477	.	0.098032	0.43416	D	0.000579	T	0.79569	0.4468	M	0.77820	2.39	0.25639	N	0.986227	D;D;D;D;D;D;D;D;P	0.89917	0.995;0.984;1.0;0.999;0.999;0.999;0.991;0.995;0.902	D;D;D;D;D;D;D;D;P	0.91635	0.995;0.946;0.996;0.998;0.999;0.991;0.995;0.995;0.838	T	0.74087	-0.3778	10	0.56958	D	0.05	.	15.806	0.78513	1.0:0.0:0.0:0.0	.	1376;1376;1285;1285;1285;1285;1285;1285;1376	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.	A	1285;1376;1285;1285;1376;1285;1285;1285;1285;1285;1285;1376;1285;92	ENSP00000394423:V1285A;ENSP00000323534:V1376A;ENSP00000338200:V1285A;ENSP00000350534:V1285A;ENSP00000346839:V1376A;ENSP00000352696:V1285A;ENSP00000265312:V1285A;ENSP00000273049:V1285A;ENSP00000349509:V1285A;ENSP00000410422:V1285A;ENSP00000415018:V1285A;ENSP00000399538:V1376A;ENSP00000348285:V1285A;ENSP00000416139:V92A	ENSP00000323534:V1376A	V	-	2	0	FN1	215964725	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	8.962000	0.93254	2.135000	0.66039	0.528000	0.53228	GTC	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.463	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	50	0	A	NM_212476		216256480	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	17.74	51	11	SNP	1.000	G	G	216256480	A	G	216256480	3	3	87	1	0	0	0	0	1	0	0	0	5984	275	10	4	3390	4	FN1	2	216256480	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2095689	216256480	26942893	321	23445											
XRCC5	7520	genome.wustl.edu	37	chr2	216990641	216990642	+	Splice_Site	DEL	GA	GA	-																															tatatttttctttattaagtGagagtctgagaaaactgtgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:216990641_216990642delGA	ENST00000392133.3	+	9	1146_1147	c.685_686delGA	c.(685-687)gag>g	p.E229fs	XRCC5_ENST00000392132.2_Splice_Site_p.E229fs			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	229					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TTTATTAAGTGAGAGTCTGAGA	0.361								Non-homologous end-joining																																									0																																										SO:0001630	splice_region_variant	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"Ku autoantigen, 80kDa"	194364	"X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.684-1GA>-	2.37:g.216990643_216990644delGA			A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Frame_Shift_Del	DEL	pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom	p.L231fs	ENST00000392133.3	37	c.685_686	CCDS2402.1	2																																																																																			XRCC5	-	pfam_Ku_N,smart_VWF_A	ENSG00000079246		0.361	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3		0	55	0	GA	NM_021141	Frame_Shift_Del	216990642	1	tier1		no_errors	ENST00000392132	ensembl	human	known	74_37	frame_shift_del	29.58	50	21	DEL	1.000:1.000	-	-	216990642	GA	-	216990641	8	5	87	1	0	1	0	1	0	0	1	0	17505	1304	45	0	711	0	XRCC5	2	216990641	Splice_Site	DEL	GA	TCGA-L5-A8NM-01A-11D-A37C-09	734161	216990641	26208732	322	23446											
MARCH4	57574	genome.wustl.edu	37	chr2	217142513	217142513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagccaagaaatactggcGatgaggaagagggagcccag	15	4	15	7	1	0	4	0	2	0	2	0	7	0	6	2	3	3	0	2	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:217142513G>A	ENST00000273067.4	-	3	2513	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	249						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAATACTGGCGATGAGGAAGA	0.562																																																	0													105	92	96					2																	217142513		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.747C>T	2.37:g.217142513G>A			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.I249	ENST00000273067.4	37	c.747	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.562	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0	33	0	G	NM_020814		217142513	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	22.73	17	5	SNP	1.000	A	A	217142513	G	A	217142513	2	1	87	1	0	0	0	0	0	0	0	1	9341	1048	37	1		1	MARCH4	2	217142513	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	151872	217142513	26056860	323	23447											
ZNF142	7701	genome.wustl.edu	37	chr2	219508084	219508084	+	Frame_Shift_Del	DEL	C	C	-																															gttttcctcccccgccacgtCcccccctgcagccttcagcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:219508084delC	ENST00000449707.1	-	8	3576	c.3155delG	c.(3154-3156)ggafs	p.G1052fs	ZNF142_ENST00000411696.2_Frame_Shift_Del_p.G1052fs	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1052					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G1052fs*20(1)|p.G889fs*20(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCGCCACGTCCCCCCCTGCA	0.607																																					Colon(170;867 1942 8995 15834 18053)												2	Deletion - Frameshift(2)	lung(2)											42	48	46					2																	219508084		1928	4115	6043	SO:0001589	frameshift_variant	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"Zinc fingers, C2H2-type"	12927	protein-coding gene	gene with protein product		604083	"zinc finger protein 142 (clone pHZ-49)"				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3155delG	2.37:g.219508084delC	ENSP00000408643:p.Gly1052fs		Q92510	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1052fs	ENST00000449707.1	37	c.3155	CCDS42817.1	2																																																																																			ZNF142	-	NULL	ENSG00000115568		0.607	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1		0	60	0	C	NM_005081		219508084	-1	tier1		no_errors	ENST00000411696	ensembl	human	known	74_37	frame_shift_del	18.75	39	9	DEL	0.000	-	-	219508084	C	-	219508084	7	5	87	1	0	1	0	1	0	0	0	0	17779	855	30	0	1920	0	ZNF142	2	219508084	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	2365571	219508084	23691289	324	23448											
CCDC108	255101	genome.wustl.edu	37	chr2	219868931	219868933	+	In_Frame_Del	DEL	CTC	CTC	-																															tcttcttcctcttcacccttCtcctcctccccctcttcctt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:219868931_219868933delCTC	ENST00000341552.5	-	33	5379_5381	c.5296_5298delGAG	c.(5296-5298)gagdel	p.E1766del	CCDC108_ENST00000453220.1_In_Frame_Del_p.E1766del|CCDC108_ENST00000441968.1_In_Frame_Del_p.E1766del|AC097468.4_ENST00000441450.1_RNA|MIR375_ENST00000362103.2_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1766	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cttcacccttctcctcctccccc	0.557																																																	0																																										SO:0001651	inframe_deletion	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5296_5298delGAG	2.37:g.219868937_219868939delCTC	ENSP00000340776:p.Glu1766del		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	In_Frame_Del	DEL	superfamily_PapD-like,pfscan_MSP_dom	p.E1766in_frame_del	ENST00000341552.5	37	c.5298_5296	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4		0	31	0	CTC	NM_194302		219868933	-1	tier1		no_errors	ENST00000341552	ensembl	human	known	74_37	in_frame_del	17.86	23	5	DEL	0.056:0.050:0.034	-	-	219868933	CTC	-	219868931	7	5	87	1	0	1	0	1	0	0	0	0	2750	912	32	0	491	0	CCDC108	2	219868931	In_Frame_Del	DEL	CTC	TCGA-L5-A8NM-01A-11D-A37C-09	360847	219868931	23330442	325	23449											
PTPRN	5798	genome.wustl.edu	37	chr2	220161986	220161986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcccgtggagatgtccatgTtggcttgggccggctcctcg	3	11	15	12	3	0	1	0	0	0	1	4	2	3	1	4	4	0	3	4	4	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:220161986T>C	ENST00000295718.2	-	14	2297	c.2057A>G	c.(2056-2058)aAc>aGc	p.N686S	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000423636.2_Missense_Mutation_p.N596S|PTPRN_ENST00000409251.3_Missense_Mutation_p.N657S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	686					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGTCCATGTTGGCTTGGGC	0.652																																																	0													60	52	54					2																	220161986		2203	4300	6503	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.2057A>G	2.37:g.220161986T>C	ENSP00000295718:p.Asn686Ser		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N686S	ENST00000295718.2	37	c.2057	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993432	0.74703	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.12774	2.65;2.65;2.65	4.28	4.28	0.50868	.	0.120882	0.56097	D	0.000035	T	0.30448	0.0765	L	0.56124	1.755	0.58432	D	0.999999	D;P	0.71674	0.998;0.855	D;P	0.72625	0.978;0.574	T	0.01720	-1.1288	10	0.46703	T	0.11	.	13.2708	0.60159	0.0:0.0:0.0:1.0	.	657;686	Q6NSL1;Q16849	.;PTPRN_HUMAN	S	657;686;657;596	ENSP00000386638:N657S;ENSP00000295718:N686S;ENSP00000444244:N596S	ENSP00000295718:N686S	N	-	2	0	PTPRN	219870230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.594000	0.67557	1.800000	0.52685	0.459000	0.35465	AAC	PTPRN	-	NULL	ENSG00000054356		0.652	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	-	0	73	0	T			220161986	-1	tier1	-	no_errors	ENST00000295718	ensembl	human	known	74_37	missense	13.64	57	9	SNP	1.000	C	C	220161986	T	C	220161986	3	2	87	1	0	0	0	0	1	0	0	0	12852	1725	60	4	922	4	PTPRN	2	220161986	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	293055	220161986	23037387	326	23450											
SPEG	10290	genome.wustl.edu	37	chr2	220349121	220349121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccgagttcccacggtGccccccaggccaggcagcag	9	3	12	17	2	0	0	0	0	0	0	1	1	1	0	6	3	3	3	6	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:220349121G>A	ENST00000312358.7	+	30	7068	c.6936G>A	c.(6934-6936)gtG>gtA	p.V2312V	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2312	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTCCCACGGTGCCCCCCAGGC	0.687																																																	0													14	18	16					2																	220349121		1930	4047	5977	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6936G>A	2.37:g.220349121G>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V2312	ENST00000312358.7	37	c.6936	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.687	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	-	0	65	0	G	NM_005876		220349121	1	tier1	-	no_errors	ENST00000312358	ensembl	human	novel	74_37	silent	14.58	41	7	SNP	0.000	A	A	220349121	G	A	220349121	2	1	87	1	0	0	0	0	0	0	0	1	15083	1306	46	3		3	SPEG	2	220349121	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	187135	220349121	22850252	327	23451											
OBSL1	23363	genome.wustl.edu	37	chr2	220432509	220432509	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgccagcatcctctcGggtgacccctggaaggacca	8	6	11	16	2	1	1	0	1	1	0	4	4	2	3	6	3	1	1	6	3	1	0	rs121918216		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:220432509G>A	ENST00000404537.1	-	3	1521	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	OBSL1_ENST00000265318.4_Nonsense_Mutation_p.R489*|OBSL1_ENST00000289656.3_Nonsense_Mutation_p.R76*|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000373876.1_Nonsense_Mutation_p.R489*|OBSL1_ENST00000603926.1_Nonsense_Mutation_p.R489*|OBSL1_ENST00000373873.4_Nonsense_Mutation_p.R489*	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	489					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCATCCTCTCGGGTGACCCCT	0.632																																																	0													51	58	56					2																	220432509		2153	4263	6416	SO:0001587	stop_gained	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1465C>T	2.37:g.220432509G>A	ENSP00000385636:p.Arg489*		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R489*	ENST00000404537.1	37	c.1465	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.850613	0.97885	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	.	.	.	4.55	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.7511	0.62908	0.0:0.0:0.8448:0.1552	.	.	.	.	X	489;489;489;489;76	.	ENSP00000265318:R489X	R	-	1	2	OBSL1	220140753	0.973000	0.33851	1.000000	0.80357	0.952000	0.60782	3.841000	0.55850	1.084000	0.41184	0.484000	0.47621	CGA	OBSL1	-	smart_Ig_sub	ENSG00000124006		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0	84	0	G			220432509	-1	tier1	rs121918216	no_errors	ENST00000404537	ensembl	human	known	74_37	nonsense	15.15	56	10	SNP	0.998	A	A	220432509	G	A	220432509	4	1	87	1	0	0	0	0	0	1	0	0	10852	1124	39	1	4453	1	OBSL1	2	220432509	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	83388	220432509	22766864	328	23452											
EPHA4	2043	genome.wustl.edu	37	chr2	222294769	222294769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccaaatttaggcctgtCgctcctctccttctgccagc	5	12	7	17	1	2	0	0	0	2	0	5	0	3	0	5	1	3	1	5	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:222294769C>T	ENST00000281821.2	-	15	2640	c.2599G>A	c.(2599-2601)Gac>Aac	p.D867N	EPHA4_ENST00000392071.4_Missense_Mutation_p.D816N|EPHA4_ENST00000409938.1_Missense_Mutation_p.D867N|EPHA4_ENST00000409854.1_Missense_Mutation_p.D867N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	867	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTAGGCCTGTCGCTCCTCTCC	0.542																																																	0													146	138	141					2																	222294769		2203	4300	6503	SO:0001583	missense	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2599G>A	2.37:g.222294769C>T	ENSP00000281821:p.Asp867Asn		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D867N	ENST00000281821.2	37	c.2599	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075799	0.76415	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.89	5.89	0.94794	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.044179	0.85682	D	0.000000	D	0.84638	0.5516	L	0.37466	1.105	0.80722	D	1	D	0.59767	0.986	P	0.56127	0.792	T	0.79923	-0.1598	10	0.19590	T	0.45	.	20.3344	0.98733	0.0:1.0:0.0:0.0	.	867	P54764	EPHA4_HUMAN	N	867;867;867;816	ENSP00000281821:D867N;ENSP00000386276:D867N;ENSP00000386829:D867N;ENSP00000375923:D816N	ENSP00000281821:D867N	D	-	1	0	EPHA4	222003013	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.815000	0.86186	2.822000	0.97130	0.650000	0.86243	GAC	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000116106		0.542	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0	48	0	C			222294769	-1	tier1	-	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	9.80	45	5	SNP	1.000	T	T	222294769	C	T	222294769	3	4	87	1	0	0	0	0	1	0	0	0	5185	884	31	1	373	1	EPHA4	2	222294769	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1862260	222294769	20904604	329	23453											
FARSB	10056	genome.wustl.edu	37	chr2	223507641	223507641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatctattggcagggacGtcaattttgtaaagaacaac	14	12	8	7	1	3	1	2	0	1	1	3	2	3	2	0	2	2	2	0	2	7	6	rs201304892		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:223507641G>A	ENST00000281828.6	-	3	461	c.198C>T	c.(196-198)gaC>gaT	p.D66D	FARSB_ENST00000536361.1_De_novo_Start_OutOfFrame	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	66					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|RNA binding (GO:0003723)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TGGCAGGGACGTCAATTTTGT	0.383																																																	0								G		0,4406		0,0,2203	91	86	87		198	-9.1	0.3	2		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FARSB	NM_005687.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		66/590	223507641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF042346	CCDS2454.1	2q36.2	2011-07-01	2007-02-23	2007-02-23	ENSG00000116120	ENSG00000116120	6.1.1.20	"Aminoacyl tRNA synthetases / Class II"	17800	protein-coding gene	gene with protein product	"phenylalanine tRNA ligase 1, beta, cytoplasmic"	609690	"phenylalanyl-tRNA synthetase-like, beta subunit"	FARSLB		10049785	Standard	NM_005687		Approved	PheHB, FRSB	uc002vne.1	Q9NSD9	OTTHUMG00000133155	ENST00000281828.6:c.198C>T	2.37:g.223507641G>A			B4DFM0|O95708|Q4ZFX1|Q57ZJ5|Q9NZZ6	Silent	SNP	pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	p.D66	ENST00000281828.6	37	c.198	CCDS2454.1	2																																																																																			FARSB	-	superfamily_DNA-bd_dom_put,tigrfam_Phe-tRNA-synth_IIc_bsu_arc	ENSG00000116120		0.383	FARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSB	HGNC	protein_coding	OTTHUMT00000256855.2	-	0	78	0	G	NM_005687		223507641	-1	tier1	rs201304892	no_errors	ENST00000281828	ensembl	human	known	74_37	silent	23.68	58	18	SNP	0.041	A	A	223507641	G	A	223507641	2	1	87	1	0	0	0	0	0	0	0	1	5702	1136	40	1		1	FARSB	2	223507641	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1212872	223507641	19691732	330	23454											
KIAA1486	57624	genome.wustl.edu	37	chr2	226446862	226446862	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgaggaagaggagccCgtgtacatcgagatggtggg	10	5	17	9	3	0	2	0	0	0	2	1	7	0	4	3	4	2	1	3	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:226446862C>T	ENST00000272907.6	+	4	1142	c.729C>T	c.(727-729)ccC>ccT	p.P243P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	243					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AAGAGGAGCCCGTGTACATCG	0.597																																																	0													110	117	115					2																	226446862		1939	4124	6063	SO:0001819	synonymous_variant	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.729C>T	2.37:g.226446862C>T			A2RRN4|Q96NL2	Silent	SNP	NULL	p.P243	ENST00000272907.6	37	c.729	CCDS46529.1	2																																																																																			NYAP2	-	NULL	ENSG00000144460		0.597	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1	-	0	39	0	C	NM_020864		226446862	1	tier1	-	no_errors	ENST00000272907	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.116	T	T	226446862	C	T	226446862	2	4	87	1	0	0	0	0	0	0	0	1	8264	639	23	1		1	KIAA1486	2	226446862	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2939221	226446862	16752511	331	23455											
COL4A3	1285	genome.wustl.edu	37	chr2	228128620	228128620	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggttgtgctggttcAccaggtcttccaggatcacc	6	11	10	14	0	3	0	2	0	1	0	5	1	5	1	5	4	1	3	5	4	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:228128620A>G	ENST00000396578.3	+	21	1437	c.1275A>G	c.(1273-1275)tcA>tcG	p.S425S	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	425	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GTGCTGGTTCACCAGGTCTTC	0.592																																																	0													60	65	63					2																	228128620		1911	4115	6026	SO:0001819	synonymous_variant	0				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"Collagens"	2204	protein-coding gene	gene with protein product	"tumstatin"	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.1275A>G	2.37:g.228128620A>G			Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S425	ENST00000396578.3	37	c.1275	CCDS42829.1	2																																																																																			COL4A3	-	pfam_Collagen	ENSG00000169031		0.592	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3	HGNC	protein_coding	OTTHUMT00000331409.2	-	0	82	0	A	NM_000091		228128620	1	tier1	-	no_errors	ENST00000396578	ensembl	human	known	74_37	silent	16.18	56	11	SNP	0.815	G	G	228128620	A	G	228128620	2	3	87	1	0	0	0	0	0	0	0	1	3698	146	6	4		4	COL4A3	2	228128620	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1681758	228128620	15070753	332	23456											
MFF	56947	genome.wustl.edu	37	chr2	228195474	228195474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagttaaaagtagcaccGccaaacgctgacctggaaca	17	5	9	10	2	0	1	0	1	0	0	0	3	0	2	3	1	3	4	3	1	7	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:228195474G>A	ENST00000353339.3	+	4	612	c.171G>A	c.(169-171)ccG>ccA	p.P57P	MFF_ENST00000337110.7_Silent_p.P31P|MFF_ENST00000409616.1_Silent_p.P31P|MFF_ENST00000392059.1_Silent_p.P57P|MFF_ENST00000409565.1_Silent_p.P31P|MFF_ENST00000524634.1_Intron|MFF_ENST00000304593.9_Silent_p.P31P|MFF_ENST00000354503.6_Silent_p.P31P|MFF_ENST00000349901.7_Silent_p.P31P|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	57					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAGTAGCACCGCCAAACGCTG	0.438																																																	0													97	83	88					2																	228195474		2203	4300	6503	SO:0001819	synonymous_variant	0			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"chromosome 2 open reading frame 33"	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.171G>A	2.37:g.228195474G>A			Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	pfam_FATE/Miff/Tango-11	p.P57	ENST00000353339.3	37	c.171	CCDS2465.1	2																																																																																			MFF	-	pfam_FATE/Miff/Tango-11	ENSG00000168958		0.438	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2		0	48	0	G	NM_020194		228195474	1			no_errors	ENST00000353339	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.960	A	A	228195474	G	A	228195474	2	1	87	1	0	0	0	0	0	0	0	1	9557	1074	38	1		1	MFF	2	228195474	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	66854	228195474	15003899	333	23457											
SLC16A14	151473	genome.wustl.edu	37	chr2	230902154	230902154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctataattcgaatgcacGgctgaataagtaaaaagagt	16	11	9	5	2	1	2	0	1	1	1	2	3	1	2	0	1	1	4	0	1	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:230902154G>A	ENST00000295190.4	-	5	1933	c.1475C>T	c.(1474-1476)cCg>cTg	p.P492L		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	492						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TCGAATGCACGGCTGAATAAG	0.343																																																	0													129	123	125					2																	230902154		2203	4300	6503	SO:0001583	missense	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1475C>T	2.37:g.230902154G>A	ENSP00000295190:p.Pro492Leu		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P492L	ENST00000295190.4	37	c.1475	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709540	0.48517	.	.	ENSG00000163053	ENST00000295190	T	0.79940	-1.32	5.4	4.45	0.53987	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106588	0.41823	N	0.000820	T	0.81828	0.4905	M	0.90369	3.11	0.58432	D	0.999999	B	0.17268	0.021	B	0.10450	0.005	T	0.77259	-0.2654	10	0.15066	T	0.55	.	12.7429	0.57264	0.0869:0.0:0.9131:0.0	.	492	Q7RTX9	MOT14_HUMAN	L	492	ENSP00000295190:P492L	ENSP00000295190:P492L	P	-	2	0	SLC16A14	230610398	1.000000	0.71417	0.129000	0.21949	0.860000	0.49131	5.450000	0.66626	1.366000	0.46076	0.655000	0.94253	CCG	SLC16A14	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.343	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	-	0	51	0	G	NM_152527		230902154	-1	tier1	-	no_errors	ENST00000295190	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.863	A	A	230902154	G	A	230902154	3	1	87	1	0	0	0	0	1	0	0	0	14452	1116	39	1	61	1	SLC16A14	2	230902154	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2706680	230902154	12297219	334	23458											
PSMD1	5707	genome.wustl.edu	37	chr2	232030597	232030597	+	Frame_Shift_Del	DEL	A	A	-																															ttttataggatgaggcagagAaaaaggaggaaaaagagaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:232030597delA	ENST00000308696.6	+	23	2743	c.2581delA	c.(2581-2583)aaafs	p.K862fs	PSMD1_ENST00000409643.1_Frame_Shift_Del_p.K831fs|PSMD1_ENST00000373635.4_Frame_Shift_Del_p.K831fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	862					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TGAGGCAGAGAAAAAGGAGGA	0.388																																																	0													34	35	35					2																	232030597		2203	4300	6503	SO:0001589	frameshift_variant	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"Proteasome (prosome, macropain) subunits"	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2581delA	2.37:g.232030597delA	ENSP00000309474:p.Lys862fs		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Frame_Shift_Del	DEL	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.K862fs	ENST00000308696.6	37	c.2581	CCDS2482.1	2																																																																																			PSMD1	-	pirsf_26S_Psome_Rpn2	ENSG00000173692		0.388	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2		0	41	0	A			232030597	1	tier1		no_errors	ENST00000308696	ensembl	human	known	74_37	frame_shift_del	14.29	30	5	DEL	1.000	-	-	232030597	A	-	232030597	7	5	87	1	0	1	0	1	0	0	0	0	12734	247	9	0	2671	0	PSMD1	2	232030597	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1128443	232030597	11168776	335	23459											
NPPC	4880	genome.wustl.edu	37	chr2	232790897	232790897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccccgggcttggcttcGgagggccggagggagagcag	5	4	21	11	4	0	1	0	0	0	1	1	4	0	3	3	7	1	3	3	7	0	2	rs369493939		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:232790897G>A	ENST00000409852.1	-	1	216	c.63C>T	c.(61-63)tcC>tcT	p.S21S	NPPC_ENST00000295440.2_Silent_p.S21S	NM_024409.2	NP_077720.1	P23582	ANFC_HUMAN	natriuretic peptide C	21					cGMP biosynthetic process (GO:0006182)|growth plate cartilage chondrocyte differentiation (GO:0003418)|growth plate cartilage chondrocyte proliferation (GO:0003419)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of vasodilation (GO:0045909)|post-embryonic development (GO:0009791)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood vessel size (GO:0050880)|regulation of cAMP metabolic process (GO:0030814)|regulation of cGMP metabolic process (GO:0030823)|regulation of multicellular organism growth (GO:0040014)|regulation of smooth muscle cell proliferation (GO:0048660)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|single organism reproductive process (GO:0044702)	extracellular space (GO:0005615)|secretory granule (GO:0030141)	receptor binding (GO:0005102)						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		GCTTGGCTTCGGAGGGCCGGA	0.741																																																	0													8	11	10					2																	232790897		2078	4132	6210	SO:0001819	synonymous_variant	0				CCDS2489.1	2q37.1	2014-01-30	2010-11-09		ENSG00000163273	ENSG00000163273		"Endogenous ligands"	7941	protein-coding gene	gene with protein product		600296	"natriuretic peptide precursor C"			7698765, 8330189	Standard	NM_024409		Approved	CNP	uc002vsl.2	P23582	OTTHUMG00000133232	ENST00000409852.1:c.63C>T	2.37:g.232790897G>A			Q4ZG41	Silent	SNP	pfam_Natr_peptide,smart_Natr_peptide,prints_C_natriurtcpep,prints_Natriuretic_peptide_brain,prints_Natr_peptide,prints_Natriuretic_peptide_atrial	p.S21	ENST00000409852.1	37	c.63	CCDS2489.1	2																																																																																			NPPC	-	prints_Natriuretic_peptide_brain	ENSG00000163273		0.741	NPPC-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NPPC	HGNC	protein_coding	OTTHUMT00000331011.1	-	0	25	0	G	NM_024409		232790897	-1	tier1	-	no_errors	ENST00000295440	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.990	A	A	232790897	G	A	232790897	2	1	87	1	0	0	0	0	0	0	0	1	10632	1103	39	1		1	NPPC	2	232790897	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	760300	232790897	10408476	336	23460											
HJURP	55355	genome.wustl.edu	37	chr2	234750242	234750242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctcatcaagattatatGttgcactggagtcgaagtaa	12	14	8	7	1	2	1	2	0	0	1	4	3	3	2	1	1	1	3	1	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:234750242G>A	ENST00000411486.2	-	8	1249	c.1184C>T	c.(1183-1185)aCa>aTa	p.T395I	HJURP_ENST00000441687.1_Missense_Mutation_p.T310I|HJURP_ENST00000432087.1_Missense_Mutation_p.T341I|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	395					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		AAGATTATATGTTGCACTGGA	0.398																																																	0													77	80	79					2																	234750242		2203	4300	6503	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1184C>T	2.37:g.234750242G>A	ENSP00000414109:p.Thr395Ile		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.T395I	ENST00000411486.2	37	c.1184	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	G	1.166	-0.642405	0.03531	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.10288	3.2;3.2;3.2;2.89	3.34	-4.67	0.03319	.	2.914990	0.01076	N	0.004917	T	0.05777	0.0151	N	0.25647	0.755	0.09310	N	1	B;B;B	0.29552	0.248;0.103;0.16	B;B;B	0.19148	0.024;0.024;0.018	T	0.27839	-1.0062	10	0.08381	T	0.77	0.1369	5.3147	0.15849	0.3015:0.3914:0.3071:0.0	.	310;341;395	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	395;341;310;310	ENSP00000414109:T395I;ENSP00000407208:T341I;ENSP00000401944:T310I;ENSP00000393253:T310I	ENSP00000414109:T395I	T	-	2	0	HJURP	234414981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.300000	0.02751	-0.932000	0.03742	-0.136000	0.14681	ACA	HJURP	-	NULL	ENSG00000123485		0.398	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	-	0	35	0	G	NM_018410		234750242	-1	tier1	-	no_errors	ENST00000411486	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.000	A	A	234750242	G	A	234750242	3	1	87	1	0	0	0	0	1	0	0	0	7216	1377	48	3	1070	3	HJURP	2	234750242	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1959345	234750242	8449131	337	23461											
SH3BP4	23677	genome.wustl.edu	37	chr2	235950921	235950921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgactgtgccccaaagaCgctcctggtcagcgaggtca	9	7	12	13	2	2	2	2	1	0	1	3	3	3	2	3	2	2	2	3	2	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:235950921C>T	ENST00000409212.1	+	4	2015	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	SH3BP4_ENST00000392011.2_Missense_Mutation_p.T503M|SH3BP4_ENST00000344528.4_Missense_Mutation_p.T503M			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	503					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCCCCAAAGACGCTCCTGGTC	0.572																																																	0													75	77	76					2																	235950921		2203	4300	6503	SO:0001583	missense	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1508C>T	2.37:g.235950921C>T	ENSP00000386862:p.Thr503Met		O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.T503M	ENST00000409212.1	37	c.1508	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722959	0.48728	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.11063	2.81;2.81;2.81	5.18	4.3	0.51218	.	0.048840	0.85682	N	0.000000	T	0.27241	0.0668	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66084	0.941;0.941	T	0.01096	-1.1453	10	0.62326	D	0.03	-7.0391	12.3899	0.55352	0.0:0.9181:0.0:0.0819	.	503;503	A8K594;Q9P0V3	.;SH3B4_HUMAN	M	503	ENSP00000375867:T503M;ENSP00000386862:T503M;ENSP00000340237:T503M	ENSP00000340237:T503M	T	+	2	0	SH3BP4	235615660	1.000000	0.71417	0.821000	0.32701	0.562000	0.35680	4.699000	0.61796	1.186000	0.42985	0.655000	0.94253	ACG	SH3BP4	-	NULL	ENSG00000130147		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	-	0	24	0	C			235950921	1	tier1	-	no_errors	ENST00000344528	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.998	T	T	235950921	C	T	235950921	3	4	87	1	0	0	0	0	1	0	0	0	14291	536	19	1	1514	1	SH3BP4	2	235950921	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1200679	235950921	7248452	338	23462											
SCLY	51540	genome.wustl.edu	37	chr2	238991922	238991922	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattggcgcactttatataCgaggacttggtgaatttacc	10	13	11	7	2	0	1	0	1	0	0	0	4	0	3	1	4	2	1	1	4	5	8	rs367978630		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:238991922C>T	ENST00000555827.1	+	7	875	c.811C>T	c.(811-813)Cga>Tga	p.R271*	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Nonsense_Mutation_p.R189*|SCLY_ENST00000409736.2_Nonsense_Mutation_p.R271*|SCLY_ENST00000254663.6_Nonsense_Mutation_p.R279*|SCLY_ENST00000422984.2_Nonsense_Mutation_p.R177*			Q96I15	SCLY_HUMAN	selenocysteine lyase	271					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ACTTTATATACGAGGACTTGG	0.423																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)												0								C	stop/ARG	0,4406		0,0,2203	181	165	171		835	4.9	0.3	2		171	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	SCLY	NM_016510.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		279/454	238991922	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"putative selenocysteine lyase"	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.811C>T	2.37:g.238991922C>T	ENSP00000450613:p.Arg271*		B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Nonsense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	p.R279*	ENST00000555827.1	37	c.835		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.28|15.28	2.786252|2.786252	0.49997|0.49997	0.0|0.0	1.16E-4|1.16E-4	ENSG00000132330|ENSG00000132330	ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965|ENST00000437134	.|.	.|.	.|.	5.79|5.79	4.9|4.9	0.64082|0.64082	.|.	0.193757|.	0.44483|.	D|.	0.000450|.	.|T	.|0.68952	.|0.3057	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67933	.|-0.5542	.|4	0.02654|.	T|.	1|.	-17.5691|-17.5691	12.9041|12.9041	0.58141|0.58141	0.2954:0.7046:0.0:0.0|0.2954:0.7046:0.0:0.0	.|.	.|.	.|.	.|.	X|M	279;271;189;271;177;101|114	.|.	ENSP00000254663:R271X|.	R|T	+|+	1|2	2|0	SCLY|SCLY	238656661|238656661	0.999000|0.999000	0.42202|0.42202	0.327000|0.327000	0.25402|0.25402	0.051000|0.051000	0.14879|0.14879	4.315000|4.315000	0.59172|0.59172	1.425000|1.425000	0.47237|0.47237	0.655000|0.655000	0.94253|0.94253	CGA|ACG	SCLY	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS	ENSG00000132330		0.423	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	SCLY	HGNC	protein_coding		-	0	67	0	C	NM_016510		238991922	1	tier1	-	no_errors	ENST00000254663	ensembl	human	known	74_37	nonsense	10.91	49	6	SNP	0.911	T	T	238991922	C	T	238991922	4	4	87	1	0	0	0	0	0	1	0	0	13952	528	19	1	837	1	SCLY	2	238991922	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3041001	238991922	4207451	339	23463											
KLHL30	377007	genome.wustl.edu	37	chr2	239054401	239054401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcctcctggaagcccGtggcgcccatgctgaagccc	7	5	14	15	2	0	1	0	1	0	0	1	3	1	3	5	4	3	1	5	4	2	0	rs374030236		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:239054401G>A	ENST00000409223.1	+	5	1185	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	KLHL30_ENST00000305959.4_Missense_Mutation_p.V342M			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	360										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGAAGCCCGTGGCGCCCAT	0.652																																																	0								G	MET/VAL	0,4070		0,0,2035	24	31	29		1078	3.6	1	2		29	1,8345		0,1,4172	no	missense	KLHL30	NM_198582.3	21	0,1,6207	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	360/579	239054401	1,12415	2035	4173	6208	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1078G>A	2.37:g.239054401G>A	ENSP00000386389:p.Val360Met		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V360M	ENST00000409223.1	37	c.1078	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445798	0.63178	0.0	1.2E-4	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.68765	-0.35;-0.35	4.62	3.59	0.41128	Kelch-type beta propeller (1);	0.182115	0.38111	N	0.001809	T	0.69780	0.3149	L	0.52011	1.625	0.37637	D	0.921881	D	0.89917	1.0	D	0.72982	0.979	T	0.70799	-0.4774	10	0.33141	T	0.24	.	3.5898	0.07985	0.3805:0.0:0.6195:0.0	.	360	Q0D2K2	KLH30_HUMAN	M	360;342	ENSP00000386389:V360M;ENSP00000302386:V342M	ENSP00000302386:V342M	V	+	1	0	KLHL30	238719140	1.000000	0.71417	0.962000	0.40283	0.775000	0.43874	4.614000	0.61183	2.113000	0.64589	0.542000	0.68232	GTG	KLHL30	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.652	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0	72	0	G	NM_198582		239054401	1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	37.33	47	28	SNP	0.969	A	A	239054401	G	A	239054401	3	1	87	1	0	0	0	0	1	0	0	0	8411	1145	40	1	1092	1	KLHL30	2	239054401	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	62479	239054401	4144972	340	23464											
KLHL30	377007	genome.wustl.edu	37	chr2	239059686	239059686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtggacccagccctccGgccccacccaggagcactaa	10	3	9	19	1	0	0	0	0	0	0	1	2	1	2	7	3	2	1	7	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:239059686G>A	ENST00000409223.1	+	8	1824	c.1717G>A	c.(1717-1719)Ggc>Agc	p.G573S	KLHL30_ENST00000305959.4_Missense_Mutation_p.G555S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	573										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCAGCCCTCCGGCCCCACCCA	0.687																																																	0													7	9	9					2																	239059686		1843	4067	5910	SO:0001583	missense	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"Kelch-like", "BTB/POZ domain containing"	24770	protein-coding gene	gene with protein product			"kelch-like 30 (Drosophila)"				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1717G>A	2.37:g.239059686G>A	ENSP00000386389:p.Gly573Ser		Q6ZUS1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G573S	ENST00000409223.1	37	c.1717	CCDS46555.2	2	.	.	.	.	.	.	.	.	.	.	A	2.171	-0.389811	0.04932	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.72167	-0.62;-0.63	4.47	-8.95	0.00765	.	2.069400	0.02014	N	0.047227	T	0.45776	0.1359	N	0.13043	0.29	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49093	-0.8975	10	0.05525	T	0.97	.	9.225	0.37400	0.0884:0.3292:0.5003:0.082	.	573	Q0D2K2	KLH30_HUMAN	S	573;555	ENSP00000386389:G573S;ENSP00000302386:G555S	ENSP00000302386:G555S	G	+	1	0	KLHL30	238724425	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	0.657000	0.24963	-4.084000	0.00075	-4.023000	0.00013	GGC	KLHL30	-	NULL	ENSG00000168427		0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1	-	0	59	0	G	NM_198582		239059686	1	tier1	-	no_errors	ENST00000409223	ensembl	human	known	74_37	missense	24.07	41	13	SNP	0.000	A	A	239059686	G	A	239059686	3	1	87	1	0	0	0	0	1	0	0	0	8411	1116	39	1	1743	1	KLHL30	2	239059686	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5285	239059686	4139687	341	23465											
TRAF3IP1	26146	genome.wustl.edu	37	chr2	239237829	239237830	+	Frame_Shift_Ins	INS	-	-	G																															gagacagagagaaagagtgaINSgggggggaaagagaaggaga																								rs150462938		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:239237829_239237830insG	ENST00000373327.4	+	5	983_984	c.761_762insG	c.(760-765)gaggggfs	p.EG254fs	TRAF3IP1_ENST00000391993.3_Frame_Shift_Ins_p.EG254fs|TRAF3IP1_ENST00000391994.2_Frame_Shift_Ins_p.EG254fs	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	254	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		agaaagagtgagggggggaaag	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"Intraflagellar transport homologs"	17861	protein-coding gene	gene with protein product	"microtubule interacting protein that associates with TRAF3"	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.768dupG	2.37:g.239237836_239237836dupG	ENSP00000362424:p.Glu254fs		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Frame_Shift_Ins	INS	NULL	p.K257fs	ENST00000373327.4	37	c.761_762	CCDS33415.1	2																																																																																			TRAF3IP1	-	NULL	ENSG00000204104		0.594	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1		0	41	0	-	NM_015650		239237830	1	tier1		no_errors	ENST00000373327	ensembl	human	known	74_37	frame_shift_ins	27.91	31	12	INS	0.045:0.019	G	G	239237830	-	G	239237829	7	5	87	1	0	1	1	0	0	0	0	0	16488	304	11	0	779	0	TRAF3IP1	2	239237829	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	178143	239237829	3961544	342	23466											
ANKMY1	51281	genome.wustl.edu	37	chr2	241465733	241465733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcctacaaatccattcGtggttcccttcctcagcctt	8	13	6	14	1	1	0	1	0	0	0	6	1	5	1	5	2	2	1	5	2	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:241465733G>A	ENST00000272972.3	-	5	1030	c.816C>T	c.(814-816)caC>caT	p.H272H	ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.H361H|ANKMY1_ENST00000391987.1_Silent_p.H272H|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000536462.1_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	272							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AAATCCATTCGTGGTTCCCTT	0.567																																																	0													170	147	155					2																	241465733		2203	4300	6503	SO:0001819	synonymous_variant	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"Zinc fingers, MYND-type", "Ankyrin repeat domain containing"	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.816C>T	2.37:g.241465733G>A			B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.H272	ENST00000272972.3	37	c.816	CCDS2536.1	2																																																																																			ANKMY1	-	pfscan_Ankyrin_rpt-contain_dom	ENSG00000144504		0.567	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0	61	0	G	NM_017844		241465733	-1	tier1	-	no_errors	ENST00000272972	ensembl	human	known	74_37	silent	28.57	45	18	SNP	0.001	A	A	241465733	G	A	241465733	2	1	87	1	0	0	0	0	0	0	0	1	634	1136	40	1		1	ANKMY1	2	241465733	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2227904	241465733	1733640	343	23467											
KIF1A	547	genome.wustl.edu	37	chr2	241725901	241725901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcaggaggtcacggacGcgctcacagtaaatctccat	10	8	12	11	3	4	0	3	0	1	0	5	2	4	2	1	4	0	3	1	4	2	2	rs201515208		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:241725901G>A	ENST00000320389.7	-	6	617	c.459C>T	c.(457-459)cgC>cgT	p.R153R	KIF1A_ENST00000498729.2_Silent_p.R153R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	153	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCACGGACGCGCTCACAGT	0.652																																																	0								G		0,4168		0,0,2084	107	112	111		459	-9.1	0.2	2		111	2,8450		0,2,4224	no	coding-synonymous	KIF1A	NM_004321.5		0,2,6308	AA,AG,GG		0.0237,0.0,0.0158		153/1691	241725901	2,12618	2084	4226	6310	SO:0001819	synonymous_variant	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"Kinesins", "Pleckstrin homology (PH) domain containing"	888	protein-coding gene	gene with protein product		601255	"axonal transport of synaptic vesicles", "chromosome 2 open reading frame 20", "spastic paraplegia 30 (autosomal recessive)"	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.459C>T	2.37:g.241725901G>A			B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R153	ENST00000320389.7	37	c.459	CCDS46561.1	2																																																																																			KIF1A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000130294		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	-	0	50	0	G	NM_138483		241725901	-1	tier1	rs201515208	no_errors	ENST00000498729	ensembl	human	known	74_37	silent	13.51	32	5	SNP	0.001	A	A	241725901	G	A	241725901	2	1	87	1	0	0	0	0	0	0	0	1	8310	1074	38	1		1	KIF1A	2	241725901	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	260168	241725901	1473472	344	23468											
AGXT	189	genome.wustl.edu	37	chr2	241817492	241817492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacccgctggctatgactgGagagacatcgtcagctacgt	9	9	12	11	3	1	2	1	1	0	1	2	4	1	3	1	2	3	4	1	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:241817492G>T	ENST00000307503.3	+	10	1383	c.996G>T	c.(994-996)tgG>tgT	p.W332C		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	332					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	GCTATGACTGGAGAGACATCG	0.637																																																	0													51	46	48					2																	241817492		2203	4300	6503	SO:0001583	missense	0			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"oxalosis I", "primary hyperoxaluria type 1", "L-alanine: glyoxylate aminotransferase 1", "serine:pyruvate aminotransferase", "glycolicaciduria"	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.996G>T	2.37:g.241817492G>T	ENSP00000302620:p.Trp332Cys		Q53QU6	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	p.W332C	ENST00000307503.3	37	c.996	CCDS2543.1	2	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494153	0.44352	.	.	ENSG00000172482	ENST00000307503	D	0.93133	-3.17	4.23	4.23	0.50019	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.96411	0.8829	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96428	0.9317	10	0.49607	T	0.09	-18.6489	15.1794	0.72941	0.0:0.0:1.0:0.0	.	210;332	Q9UJX1;P21549	.;SPYA_HUMAN	C	332	ENSP00000302620:W332C	ENSP00000302620:W332C	W	+	3	0	AGXT	241466165	1.000000	0.71417	0.993000	0.49108	0.083000	0.17756	6.907000	0.75724	2.061000	0.61500	0.563000	0.77884	TGG	AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172482		0.637	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	-	0	74	0	G	NM_000030		241817492	1	tier1	-	no_errors	ENST00000307503	ensembl	human	known	74_37	missense	17.86	46	10	SNP	1.000	T	T	241817492	G	T	241817492	3	4	87	1	0	0	0	0	1	0	0	0	404	1183	41	3	1034	3	AGXT	2	241817492	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	91591	241817492	1381881	345	23469											
HDLBP	3069	genome.wustl.edu	37	chr2	242195709	242195709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggggggatgttgatgcGcgtgcctgtctcctgcatga	4	11	18	8	2	1	2	0	2	1	0	2	3	1	3	2	4	3	2	2	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:242195709G>A	ENST00000391975.1	-	7	990	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	HDLBP_ENST00000391976.2_Missense_Mutation_p.R255C|HDLBP_ENST00000310931.4_Missense_Mutation_p.R255C|HDLBP_ENST00000427183.2_Missense_Mutation_p.R291C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	255	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.R255C(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGTTGATGCGCGTGCCTGTC	0.537																																																	1	Substitution - Missense(1)	endometrium(1)											129	107	115					2																	242195709		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.763C>T	2.37:g.242195709G>A	ENSP00000375836:p.Arg255Cys		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.R255C	ENST00000391975.1	37	c.763	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409442|3.409442	0.62399|0.62399	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000373292|ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	.|T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4	5.74|5.74	3.68|3.68	0.42216|0.42216	.|K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61476|0.61476	0.2350|0.2350	M|M	0.84683|0.84683	2.71|2.71	0.41359|0.41359	D|D	0.987411|0.987411	.|D;D;D	.|0.89917	.|1.0;0.995;1.0	.|D;P;D	.|0.83275	.|0.996;0.82;0.996	T|T	0.68481|0.68481	-0.5397|-0.5397	5|10	.|0.87932	.|D	.|0	-20.5591|-20.5591	11.4284|11.4284	0.50025|0.50025	0.0:0.1053:0.661:0.2337|0.0:0.1053:0.661:0.2337	.|.	.|255;291;255	.|B2R5V9;E7EM71;Q00341	.|.;.;VIGLN_HUMAN	V|C	132|255;255;255;291	.|ENSP00000375836:R255C;ENSP00000375837:R255C;ENSP00000312042:R255C;ENSP00000399139:R291C	.|ENSP00000312042:R255C	A|R	-|-	2|1	0|0	HDLBP|HDLBP	241844382|241844382	1.000000|1.000000	0.71417|0.71417	0.888000|0.888000	0.34837|0.34837	0.415000|0.415000	0.31203|0.31203	4.559000|4.559000	0.60796|0.60796	1.556000|1.556000	0.49512|0.49512	0.563000|0.563000	0.77884|0.77884	GCG|CGC	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.537	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0	53	0	G	NM_203346		242195709	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.966	A	A	242195709	G	A	242195709	3	1	87	1	0	0	0	0	1	0	0	0	7052	1087	38	1	3131	1	HDLBP	2	242195709	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	378217	242195709	1003664	346	23470											
GAL3ST2	64090	genome.wustl.edu	37	chr2	242743356	242743356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcctgtgcctgcaggaCggcggcgcgctcaagaacca	8	4	15	14	5	1	1	1	0	0	1	1	3	1	2	3	3	4	2	3	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:242743356C>T	ENST00000192314.6	+	4	1103	c.972C>T	c.(970-972)gaC>gaT	p.D324D	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	324					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCCTGCAGGACGGCGGCGCGC	0.756																																																	0													5	6	5					2																	242743356		2094	4113	6207	SO:0001819	synonymous_variant	0			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.972C>T	2.37:g.242743356C>T			Q17RK0|Q57Z52	Silent	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.D324	ENST00000192314.6	37	c.972	CCDS33427.1	2																																																																																			GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000154252		0.756	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	-	0	23	0	C	NM_022134		242743356	1	tier1	-	no_errors	ENST00000192314	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.000	T	T	242743356	C	T	242743356	2	4	87	1	0	0	0	0	0	0	0	1	6223	535	19	1		1	GAL3ST2	2	242743356	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	547647	242743356	456017	347	23471											
PDCD1	5133	genome.wustl.edu	37	chr2	242795103	242795104	+	Frame_Shift_Ins	INS	-	-	G																															agcagggctggggagaaggtINSgggggggttccagggcctgt																								rs373081859|rs41444844	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr2:242795103_242795104insG	ENST00000334409.5	-	2	174_175	c.105_106insC	c.(103-108)cccaccfs	p.T36fs		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	36	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGGGAGAAGGTGGGGGGGTTCC	0.634																																																	0																																										SO:0001589	frameshift_variant	0			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	8760	protein-coding gene	gene with protein product		600244	"systemic lupus erythematosus susceptibility 2"	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.106dupC	2.37:g.242795110_242795110dupG	ENSP00000335062:p.Thr36fs		O00517|Q8IX89	Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.T35fs	ENST00000334409.5	37	c.106_105	CCDS33428.1	2																																																																																			PDCD1	-	pfscan_Ig-like_dom	ENSG00000188389		0.634	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1	HGNC	protein_coding	OTTHUMT00000322313.1		0	57	0	-	NM_005018		242795104	-1	tier1		no_errors	ENST00000334409	ensembl	human	known	74_37	frame_shift_ins	18.97	47	11	INS	0.986:0.990	G	G	242795104	-	G	242795103	7	5	87	1	0	1	1	0	0	0	0	0	11654	1696	59	0	776	0	PDCD1	2	242795103	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	51747	242795103	404270	348	23472											
ITPR1	3708	genome.wustl.edu	37	chr3	4829647	4829647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagattgtcagattagaccGaacaatggaacagatagtct	15	10	9	7	1	2	4	1	0	1	4	2	6	2	5	1	1	2	0	1	1	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:4829647G>A	ENST00000443694.2	+	49	6587	c.6587G>A	c.(6586-6588)cGa>cAa	p.R2196Q	ITPR1_ENST00000302640.8_Missense_Mutation_p.R2196Q|ITPR1_ENST00000423119.2_Missense_Mutation_p.R2163Q|ITPR1_ENST00000354582.6_Missense_Mutation_p.R2196Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.R2163Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.R2148Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGATTAGACCGAACAATGGAA	0.383																																																	0													74	65	68					3																	4829647		1876	4118	5994	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6587G>A	3.37:g.4829647G>A	ENSP00000401671:p.Arg2196Gln		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2196Q	ENST00000443694.2	37	c.6587	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472321	0.84533	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.91521	-2.85;-2.86;-2.86;-2.86;-2.85;-2.85	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.95417	0.8512	M	0.83223	2.63	0.80722	D	1	D;D	0.76494	0.999;0.997	P;D	0.64410	0.813;0.925	D	0.95200	0.8316	10	0.52906	T	0.07	.	19.363	0.94448	0.0:0.0:1.0:0.0	.	2211;2163	Q14643;G5E9P1	ITPR1_HUMAN;.	Q	2211;2196;2196;2163;657;2163;2148;2196	ENSP00000306253:R2196Q;ENSP00000346595:R2196Q;ENSP00000405934:R2163Q;ENSP00000349597:R2163Q;ENSP00000397885:R2148Q;ENSP00000401671:R2196Q	ENSP00000306253:R2196Q	R	+	2	0	ITPR1	4804647	1.000000	0.71417	0.976000	0.42696	0.059000	0.15707	9.787000	0.99055	2.556000	0.86216	0.561000	0.74099	CGA	ITPR1	-	NULL	ENSG00000150995		0.383	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	-	0	40	0	G	NM_002222		4829647	1	tier1	-	no_errors	ENST00000302640	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A	A	4829647	G	A	4829647	3	1	87	1	0	0	0	0	1	0	0	0	7947	1058	37	1	6830	1	ITPR1	3	4829647	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		4829647	193192783	349	23473											
LMCD1	29995	genome.wustl.edu	37	chr3	8578939	8578939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgacctagaagacgatcGgaaaattggccgcttgctga	12	9	11	9	3	1	4	0	2	1	2	2	6	1	5	2	2	1	2	2	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:8578939G>A	ENST00000157600.3	+	3	432	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_5'UTR|LMCD1_ENST00000535732.1_Missense_Mutation_p.R67Q	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	67					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GAAGACGATCGGAAAATTGGC	0.532																																																	0													84	80	81					3																	8578939		2203	4300	6503	SO:0001583	missense	0			AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"dyxin"	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.200G>A	3.37:g.8578939G>A	ENSP00000157600:p.Arg67Gln		B4DG80	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R67Q	ENST00000157600.3	37	c.200	CCDS33688.1	3	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638875	0.47153	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000426878	T;D;T;T	0.86230	0.87;-2.09;-1.07;-1.07	5.51	4.64	0.57946	.	0.100659	0.44688	D	0.000431	T	0.82130	0.4970	L	0.45352	1.415	0.80722	D	1	B	0.22541	0.071	B	0.11329	0.006	T	0.78091	-0.2339	10	0.44086	T	0.13	-23.2531	12.9193	0.58222	0.0787:0.0:0.9213:0.0	.	67	Q9NZU5	LMCD1_HUMAN	Q	67;73;67;24	ENSP00000157600:R67Q;ENSP00000400555:R73Q;ENSP00000441100:R67Q;ENSP00000411222:R24Q	ENSP00000157600:R67Q	R	+	2	0	LMCD1	8553939	1.000000	0.71417	0.977000	0.42913	0.818000	0.46254	4.018000	0.57174	1.319000	0.45190	0.655000	0.94253	CGG	LMCD1	-	NULL	ENSG00000071282		0.532	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMCD1	HGNC	protein_coding	OTTHUMT00000337854.1	-	0	35	0	G	NM_014583		8578939	1	tier1	-	no_errors	ENST00000157600	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	A	A	8578939	G	A	8578939	3	1	87	1	0	0	0	0	1	0	0	0	8874	1116	39	1	210	1	LMCD1	3	8578939	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3749292	8578939	189443491	350	23474											
OXTR	5021	genome.wustl.edu	37	chr3	8809115	8809115	+	Frame_Shift_Del	DEL	C	C	-																															acacgcgccagggccacgcgCcccccatcgccagccgccgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:8809115delC	ENST00000316793.3	-	3	1383	c.759delG	c.(757-759)gggfs	p.G253fs	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	253					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	GGGCCACGCGCCCCCCATCGC	0.647																																																	0													18	17	17					3																	8809115		2196	4298	6494	SO:0001589	frameshift_variant	0				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"GPCR / Class A : Vasopressin and oxytocin receptors"	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.759delG	3.37:g.8809115delC	ENSP00000324270:p.Gly253fs		Q15071	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R254fs	ENST00000316793.3	37	c.759	CCDS2570.1	3																																																																																			OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt	ENSG00000180914		0.647	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2		0	36	0	C			8809115	-1	tier1		no_errors	ENST00000316793	ensembl	human	known	74_37	frame_shift_del	18.75	26	6	DEL	0.000	-	-	8809115	C	-	8809115	7	5	87	1	0	1	0	1	0	0	0	0	11377	726	26	0	418	0	OXTR	3	8809115	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	230176	8809115	189213315	351	23475											
TTLL3	26140	genome.wustl.edu	37	chr3	9868737	9868737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgaacggcaaccccGtggtgatgaaggacggcaag	11	5	16	9	3	0	3	0	3	0	0	0	4	0	4	2	5	3	3	2	5	4	0	rs202230845		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:9868737G>A	ENST00000547186.1	+	9	1147	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	TTLL3_ENST00000430793.1_Missense_Mutation_p.V99M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V99M|TTLL3_ENST00000455274.1_Missense_Mutation_p.V99M|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V372M|TTLL3_ENST00000383827.1_Missense_Mutation_p.V99M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V454M|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000427853.3_Missense_Mutation_p.V99M	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	311	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGGCAACCCCGTGGTGATGAA	0.572																																																	0								G	MET/VAL,MET/VAL	0,4406		0,0,2203	183	162	169		1360,1114	-8.2	0	3		169	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	TTLL3,ARPC4-TTLL3	NM_001025930.3,NM_001198793.1	21,21	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign	454/916,372/626	9868737	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"Tubulin tyrosine ligase-like family"	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.931G>A	3.37:g.9868737G>A	ENSP00000446659:p.Val311Met		Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.V454M	ENST00000547186.1	37	c.1360		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.307|2.307	-0.358923|-0.358923	0.05138|0.05138	0.0|0.0	3.49E-4|3.49E-4	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252|ENST00000397256;ENST00000426895;ENST00000547186;ENST00000397241;ENST00000427853;ENST00000443148;ENST00000383827;ENST00000455274;ENST00000430793	.|T;T;T;T;T;T;T;T;T	.|0.05786	.|3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	5.09|5.09	-8.21|-8.21	0.01041|0.01041	.|.	.|0.461581	.|0.20798	.|N	.|0.085490	T|T	0.02418|0.02418	0.0074|0.0074	N|N	0.02697|0.02697	-0.525|-0.525	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.19583	.|0.037;0.002;0.0;0.001;0.013;0.0	.|B;B;B;B;B;B	.|0.20184	.|0.017;0.003;0.002;0.006;0.028;0.0	T|T	0.30504|0.30504	-0.9976|-0.9976	5|10	.|0.35671	.|T	.|0.21	.|.	15.974|15.974	0.80044|0.80044	0.1952:0.7392:0.0656:0.0|0.1952:0.7392:0.0656:0.0	.|.	.|250;99;99;99;311;372	.|B4DM47;Q9Y4R7-2;B2RCJ2;Q9Y4R7-5;Q9Y4R7;E7ETI0	.|.;.;.;.;TTLL3_HUMAN;.	H|M	266|372;454;311;99;99;249;99;99;99	.|ENSP00000380427:V372M;ENSP00000392549:V454M;ENSP00000446659:V311M;ENSP00000380416:V99M;ENSP00000394462:V99M;ENSP00000398097:V249M;ENSP00000373338:V99M;ENSP00000409632:V99M;ENSP00000403874:V99M	.|ENSP00000380416:V99M	R|V	+|+	2|1	0|0	TTLL3|ARPC4-TTLL3;TTLL3	9843737|9843737	0.000000|0.000000	0.05858|0.05858	0.047000|0.047000	0.18901|0.18901	0.376000|0.376000	0.30014|0.30014	-0.448000|-0.448000	0.06820|0.06820	-1.892000|-1.892000	0.01108|0.01108	-1.655000|-1.655000	0.00754|0.00754	CGT|GTG	TTLL3	-	pfam_TTL/TTLL_fam	ENSG00000214021		0.572	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		-	0	57	0	G	NM_001025930.2		9868737	1	tier1	rs202230845	no_errors	ENST00000426895	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.001	A	A	9868737	G	A	9868737	3	1	87	1	0	0	0	0	1	0	0	0	16777	1145	40	1	961	1	TTLL3	3	9868737	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1059622	9868737	188153693	352	23476											
PRRT3	285368	genome.wustl.edu	37	chr3	9989596	9989596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcgctgcgtggtgactcGaatgaggccccggcgtgacg	5	7	17	12	6	0	3	0	3	0	0	2	4	0	3	2	4	1	2	2	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:9989596G>A	ENST00000412055.1	-	4	1390	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	421	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GTGGTGACTCGAATGAGGCCC	0.706																																																	0													4	5	4					3																	9989596		1977	4021	5998	SO:0001587	stop_gained	0			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1261C>T	3.37:g.9989596G>A	ENSP00000392511:p.Arg421*		Q49AD0|Q6UXY6|Q8NBC9	Nonsense_Mutation	SNP	NULL	p.R421*	ENST00000412055.1	37	c.1261	CCDS43049.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.494178	0.97612	.	.	ENSG00000163704	ENST00000412055	.	.	.	4.96	4.06	0.47325	.	0.158819	0.29699	N	0.011432	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.73	12.037	0.53431	0.0:0.0:0.82:0.18	.	.	.	.	X	421	.	.	R	-	1	2	PRRT3	9964596	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.098000	0.31000	1.244000	0.43870	0.563000	0.77884	CGA	PRRT3	-	NULL	ENSG00000163704		0.706	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT3	HGNC	protein_coding	OTTHUMT00000339322.1	-	0	27	0	G	NM_207351		9989596	-1	tier1	-	no_errors	ENST00000295984	ensembl	human	known	74_37	nonsense	23.53	13	4	SNP	1.000	A	A	9989596	G	A	9989596	4	1	87	1	0	0	0	0	0	1	0	0	12653	1066	37	1	1688	1	PRRT3	3	9989596	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	120859	9989596	188032834	353	23477											
ATG7	10533	genome.wustl.edu	37	chr3	11468322	11468322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatttaacttcctagccaaGgtgtttaattcttcacattc	10	16	6	9	0	2	0	1	0	1	0	4	1	3	1	2	2	2	1	2	2	4	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:11468322G>T	ENST00000354449.3	+	18	2026	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	ATG7_ENST00000354956.5_Missense_Mutation_p.K640N|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	667					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)	p.K667N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTAGCCAAGGTGTTTAATT	0.348																																																	1	Substitution - Missense(1)	endometrium(1)											112	105	107					3																	11468322		2203	4300	6503	SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.2001G>T	3.37:g.11468322G>T	ENSP00000346437:p.Lys667Asn		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	p.K667N	ENST00000354449.3	37	c.2001	CCDS2605.1	3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.06|15.06|15.06	2.721087|2.721087|2.721087	0.48728|0.48728|0.48728	.|.|.	.|.|.	ENSG00000197548|ENSG00000197548|ENSG00000197548	ENST00000446110|ENST00000354956;ENST00000354449;ENST00000414717|ENST00000427759	.|T;T|.	.|0.45668|.	.|0.89;1.55|.	5.97|5.97|5.97	3.86|3.86|3.86	0.44501|0.44501|0.44501	.|.|.	.|0.057686|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.57844|0.57844|0.57844	0.2081|0.2081|0.2081	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.50813|0.50813|0.50813	D|D|D	0.999899|0.999899|0.999899	.|B;B|.	.|0.32781|.	.|0.384;0.069|.	.|B;B|.	.|0.34931|.	.|0.192;0.03|.	T|T|T	0.54899|0.54899|0.54899	-0.8224|-0.8224|-0.8224	5|10|5	.|0.35671|.	.|T|.	.|0.21|.	-19.1263|-19.1263|-19.1263	11.2211|11.2211|11.2211	0.48855|0.48855|0.48855	0.2649:0.0:0.7351:0.0|0.2649:0.0:0.7351:0.0|0.2649:0.0:0.7351:0.0	.|.|.	.|640;667|.	.|O95352-2;O95352|.	.|.;ATG7_HUMAN|.	C|N|M	68|640;667;68|68	.|ENSP00000347042:K640N;ENSP00000346437:K667N|.	.|ENSP00000346437:K667N|.	G|K|R	+|+|+	1|3|2	0|2|0	ATG7|ATG7|ATG7	11443322|11443322|11443322	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.050000|1.050000|1.050000	0.30404|0.30404|0.30404	1.523000|1.523000|1.523000	0.49018|0.49018|0.49018	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGT|AAG|AGG	ATG7	-	tigrfam_Atg7	ENSG00000197548		0.348	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	-	0	77	0	G	NM_006395		11468322	1	tier1	-	no_errors	ENST00000354449	ensembl	human	known	74_37	missense	15.38	66	12	SNP	1.000	T	T	11468322	G	T	11468322	3	4	87	1	0	0	0	0	1	0	0	0	1102	991	35	3	2067	3	ATG7	3	11468322	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1478726	11468322	186554108	354	23478											
NUP210	23225	genome.wustl.edu	37	chr3	13359206	13359206	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcataggctgggctcCacagccctgagggagggctg	7	5	19	10	0	0	1	0	1	0	0	1	3	1	3	2	6	1	4	2	6	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:13359206C>T	ENST00000254508.5	-	40	5721	c.5639G>A	c.(5638-5640)tGg>tAg	p.W1880*		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1880					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCTGGGCTCCACAGCCCTGA	0.607																																																	0													61	59	60					3																	13359206		2201	4300	6501	SO:0001587	stop_gained	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5639G>A	3.37:g.13359206C>T	ENSP00000254508:p.Trp1880*		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Nonsense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.W1880*	ENST00000254508.5	37	c.5639	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	C	46	12.225875	0.99648	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.51	5.51	0.81932	.	0.373056	0.26503	N	0.024008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5213	14.9163	0.70801	0.0:1.0:0.0:0.0	.	.	.	.	X	1880	.	ENSP00000254508:W1880X	W	-	2	0	NUP210	13334206	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.099000	0.57755	2.605000	0.88082	0.655000	0.94253	TGG	NUP210	-	NULL	ENSG00000132182		0.607	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	44	0	C	NM_024923		13359206	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	nonsense	12.73	48	7	SNP	1.000	T	T	13359206	C	T	13359206	4	4	87	1	0	0	0	0	0	1	0	0	10799	595	21	3	28	3	NUP210	3	13359206	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1890884	13359206	184663224	355	23479											
NUP210	23225	genome.wustl.edu	37	chr3	13417856	13417856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctttagtgccctgatgcGatggtatgacccattctggg	6	13	11	11	1	2	2	0	2	2	0	2	3	2	2	3	2	2	1	3	2	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:13417856G>A	ENST00000254508.5	-	10	1310	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	410					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCCTGATGCGATGGTATGAC	0.577																																																	0													145	113	124					3																	13417856		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1228C>T	3.37:g.13417856G>A	ENSP00000254508:p.Arg410Cys		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.R410C	ENST00000254508.5	37	c.1228	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128590	0.21041	.	.	ENSG00000132182	ENST00000254508	T	0.05513	3.43	5.31	4.44	0.53790	.	0.642470	0.17465	N	0.173306	T	0.09113	0.0225	L	0.36672	1.1	0.35199	D	0.774091	D;P	0.65815	0.995;0.611	P;B	0.50708	0.648;0.044	T	0.31943	-0.9925	10	0.40728	T	0.16	-3.349	8.7044	0.34345	0.2197:0.0:0.7803:0.0	.	410;410	Q8TEM1-2;Q8TEM1	.;PO210_HUMAN	C	410	ENSP00000254508:R410C	ENSP00000254508:R410C	R	-	1	0	NUP210	13392856	1.000000	0.71417	0.843000	0.33291	0.005000	0.04900	4.479000	0.60236	1.237000	0.43756	0.491000	0.48974	CGC	NUP210	-	NULL	ENSG00000132182		0.577	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0	67	0	G	NM_024923		13417856	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.995	A	A	13417856	G	A	13417856	3	1	87	1	0	0	0	0	1	0	0	0	10799	1058	37	1	4559	1	NUP210	3	13417856	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	58650	13417856	184604574	356	23480											
HDAC11	79885	genome.wustl.edu	37	chr3	13546120	13546120	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggggctcattgggccTgagtcacccagcgtctccgc	4	8	14	15	2	3	1	2	1	1	0	4	1	3	1	4	4	1	1	4	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:13546120T>C	ENST00000295757.3	+	10	1164	c.981T>C	c.(979-981)ccT>ccC	p.P327P	HDAC11_ENST00000402271.1_Silent_p.P248P|HDAC11_ENST00000433119.1_3'UTR|HDAC11_ENST00000446613.2_Silent_p.P135P|HDAC11_ENST00000522202.1_Silent_p.P276P|HDAC11_ENST00000437379.2_Silent_p.P299P|HDAC11_ENST00000404040.1_Silent_p.P227P|HDAC11_ENST00000402259.1_Silent_p.P161P	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	327					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TCATTGGGCCTGAGTCACCCA	0.607																																																	0													78	72	74					3																	13546120		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.981T>C	3.37:g.13546120T>C			B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Silent	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.P327	ENST00000295757.3	37	c.981	CCDS2615.1	3																																																																																			HDAC11	-	NULL	ENSG00000163517		0.607	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC11	HGNC	protein_coding	OTTHUMT00000252028.5		0	62	0	T	NM_024827		13546120	1			no_errors	ENST00000295757	ensembl	human	known	74_37	silent	10.42	43	5	SNP	0.000	C	C	13546120	T	C	13546120	2	2	87	1	0	0	0	0	0	0	0	1	7033	1567	55	4		4	HDAC11	3	13546120	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	128264	13546120	184476310	357	23481											
OXNAD1	92106	genome.wustl.edu	37	chr3	16343348	16343348	+	Frame_Shift_Del	DEL	A	A	-																															ataaaactattctacagtgcAaaaaataccagcgaactcct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:16343348delA	ENST00000285083.5	+	7	1113	c.648delA	c.(646-648)gcafs	p.A216fs	OXNAD1_ENST00000435829.2_Frame_Shift_Del_p.A234fs|OXNAD1_ENST00000544043.1_Frame_Shift_Del_p.A234fs|OXNAD1_ENST00000606098.1_Frame_Shift_Del_p.A216fs|OXNAD1_ENST00000605932.1_Frame_Shift_Del_p.A216fs	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	216						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TCTACAGTGCAAAAAATACCA	0.403																																																	0													65	66	66					3																	16343348		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.648delA	3.37:g.16343348delA	ENSP00000285083:p.Ala216fs		Q2HYC7|Q59FA4	Frame_Shift_Del	DEL	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.N236fs	ENST00000285083.5	37	c.702	CCDS2630.1	3																																																																																			OXNAD1	-	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6	ENSG00000154814		0.403	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1		0	40	0	A	NM_138381		16343348	1	tier1		no_errors	ENST00000544043	ensembl	human	known	74_37	frame_shift_del	40.00	18	12	DEL	0.128	-	-	16343348	A	-	16343348	7	5	87	1	0	1	0	1	0	0	0	0	11372	117	5	0	666	0	OXNAD1	3	16343348	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	2797228	16343348	181679082	358	23482											
TBC1D5	9779	genome.wustl.edu	37	chr3	17208335	17208335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccgctggagcagtagtggTtgtccgcaatggtgatctgt	6	11	16	8	2	1	1	0	1	1	0	2	2	2	2	2	4	1	5	2	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:17208335T>C	ENST00000253692.7	-	21	3682	c.2018A>G	c.(2017-2019)aAc>aGc	p.N673S	TBC1D5_ENST00000429383.4_Missense_Mutation_p.N673S|TBC1D5_ENST00000446818.2_Missense_Mutation_p.N695S|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	673						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GCAGTAGTGGTTGTCCGCAAT	0.507																																																	0													95	86	89					3																	17208335		2203	4300	6503	SO:0001583	missense	0			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.2018A>G	3.37:g.17208335T>C	ENSP00000253692:p.Asn673Ser		A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.N673S	ENST00000253692.7	37	c.2018	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	T	18.42	3.620440	0.66787	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818	T;T;T	0.37752	1.18;1.18;1.18	5.09	5.09	0.68999	.	0.100557	0.64402	D	0.000003	T	0.24774	0.0601	N	0.14661	0.345	0.80722	D	1	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.10450	0.005;0.0;0.0	T	0.03887	-1.0995	10	0.42905	T	0.14	-11.3017	15.1719	0.72881	0.0:0.0:0.0:1.0	.	695;673;673	C9JP52;B9A6K1;Q92609	.;.;TBCD5_HUMAN	S	673;673;695	ENSP00000253692:N673S;ENSP00000398127:N673S;ENSP00000402935:N695S	ENSP00000253692:N673S	N	-	2	0	TBC1D5	17183339	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	7.460000	0.80816	2.040000	0.60383	0.459000	0.35465	AAC	TBC1D5	-	NULL	ENSG00000131374		0.507	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	-	0	79	0	T	NM_014744		17208335	-1	tier1	-	no_errors	ENST00000253692	ensembl	human	known	74_37	missense	7.14	65	5	SNP	1.000	C	C	17208335	T	C	17208335	3	2	87	1	0	0	0	0	1	0	0	0	15670	1725	60	4	377	4	TBC1D5	3	17208335	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	864987	17208335	180814095	359	23483											
SLC4A7	9497	genome.wustl.edu	37	chr3	27450945	27450945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcgaggccaggcactgcaGgcttaatgcatccttgaagt	11	9	11	10	1	0	1	0	1	0	0	2	2	1	1	2	3	2	4	2	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:27450945G>T	ENST00000295736.5	-	13	1886	c.1816C>A	c.(1816-1818)Ctg>Atg	p.L606M	SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L615M|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L156M|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L487M|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L482M|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L602M|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L598M|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L487M|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L602M|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L491M	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	606					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	AGGCACTGCAGGCTTAATGCA	0.433																																																	0													149	150	149					3																	27450945		2203	4300	6503	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1816C>A	3.37:g.27450945G>T	ENSP00000295736:p.Leu606Met		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.L615M	ENST00000295736.5	37	c.1843	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628991	0.67015	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.71	5.71	0.89125	Bicarbonate transporter, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.89602	0.6762	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.986;0.999;0.999;1.0;0.99;0.982;1.0;0.986	D;D;D;D;D;D;D;D;D	0.81914	0.995;0.979;0.99;0.99;0.995;0.97;0.964;0.995;0.979	D	0.87559	0.2470	10	0.35671	T	0.21	.	19.857	0.96762	0.0:0.0:1.0:0.0	.	602;487;598;602;615;156;482;606;487	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	M	157;606;482;615;602;487;598;487;602;491;156;502	ENSP00000411031:L157M;ENSP00000295736:L606M;ENSP00000416368:L482M;ENSP00000390394:L615M;ENSP00000414797:L602M;ENSP00000394252:L487M;ENSP00000406605:L598M;ENSP00000407382:L487M;ENSP00000406804:L602M;ENSP00000395336:L491M;ENSP00000373429:L156M;ENSP00000388703:L502M	ENSP00000295736:L606M	L	-	1	2	SLC4A7	27425949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.889000	0.87307	2.690000	0.91761	0.585000	0.79938	CTG	SLC4A7	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.433	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2		0	46	0	G	NM_003615		27450945	-1			no_errors	ENST00000454389	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T	T	27450945	G	T	27450945	3	4	87	1	0	0	0	0	1	0	0	0	14703	991	35	3	1880	3	SLC4A7	3	27450945	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10242610	27450945	170571485	360	23484											
AZI2	64343	genome.wustl.edu	37	chr3	28382061	28382061	+	Frame_Shift_Del	DEL	T	T	-																															actgtatctctcttatgggcTttttcatgattcagaataca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:28382061delT	ENST00000479665.1	-	2	579	c.48delA	c.(46-48)aaafs	p.K16fs	AZI2_ENST00000420543.2_Frame_Shift_Del_p.K16fs|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000334100.6_Frame_Shift_Del_p.K16fs|AZI2_ENST00000457172.1_Frame_Shift_Del_p.K16fs	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	16	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCTTATGGGCTTTTTCATGAT	0.348																																																	0													104	107	106					3																	28382061		2203	4300	6503	SO:0001589	frameshift_variant	0			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.48delA	3.37:g.28382061delT	ENSP00000419371:p.Lys16fs		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Frame_Shift_Del	DEL	NULL	p.A17fs	ENST00000479665.1	37	c.48	CCDS2647.1	3																																																																																			AZI2	-	NULL	ENSG00000163512		0.348	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2		0	51	0	T	NM_203326		28382061	-1	tier1		no_errors	ENST00000479665	ensembl	human	known	74_37	frame_shift_del	37.21	27	16	DEL	0.996	-	-	28382061	T	-	28382061	7	5	87	1	0	1	0	1	0	0	0	0	1242	1606	56	0	1247	0	AZI2	3	28382061	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	931116	28382061	169640369	361	23485											
TGFBR2	7048	genome.wustl.edu	37	chr3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-																															tccaaagtgcattatgaaggAaaaaaaaaagcctggtgaga																								rs79375991		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)											89	92	91					3																	30691872		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0	51	0	A			30691872	1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	26.79	41	15	DEL	1.000	-	-	30691872	A	-	30691872	7	5	87	1	0	1	0	1	0	0	0	0	15869	246	9	0	463	0	TGFBR2	3	30691872	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	2309811	30691872	167330558	362	23486											
CCR4	1233	genome.wustl.edu	37	chr3	32995849	32995849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgggggagaaatttcGcaagtacatcctacagctct	10	13	9	9	1	2	1	0	0	2	1	4	2	3	1	1	2	3	3	1	2	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:32995849G>A	ENST00000330953.5	+	2	1103	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	312					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GAGAAATTTCGCAAGTACATC	0.478																																																	0													64	68	67					3																	32995849		2203	4300	6503	SO:0001583	missense	0			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.935G>A	3.37:g.32995849G>A	ENSP00000332659:p.Arg312His		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.R312H	ENST00000330953.5	37	c.935	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068896	0.76301	.	.	ENSG00000183813	ENST00000330953	T	0.58358	0.34	5.73	5.73	0.89815	.	0.107611	0.39210	N	0.001435	T	0.71986	0.3405	M	0.84948	2.725	0.48288	D	0.999625	D	0.89917	1.0	D	0.64506	0.926	T	0.76187	-0.3051	10	0.87932	D	0	.	11.2774	0.49174	0.1148:0.0:0.8852:0.0	.	312	P51679	CCR4_HUMAN	H	312	ENSP00000332659:R312H	ENSP00000332659:R312H	R	+	2	0	CCR4	32970853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.362000	0.59467	2.706000	0.92434	0.563000	0.77884	CGC	CCR4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	ENSG00000183813		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	-	0	35	0	G			32995849	1	tier1	-	no_errors	ENST00000330953	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	32995849	G	A	32995849	3	1	87	1	0	0	0	0	1	0	0	0	2950	1087	38	1	937	1	CCR4	3	32995849	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2303977	32995849	165026581	363	23487											
CRTAP	10491	genome.wustl.edu	37	chr3	33161920	33161920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatgatgaagaggaacatgGcatattataagagcctgcct	16	9	10	6	0	0	4	0	2	0	2	0	5	0	5	2	2	3	1	2	2	6	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:33161920G>A	ENST00000320954.6	+	2	655	c.556G>A	c.(556-558)Gca>Aca	p.A186T	CRTAP_ENST00000449224.1_Missense_Mutation_p.A186T|CRTAP_ENST00000485310.1_3'UTR	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	186					chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation to 3-hydroxy-L-proline (GO:0018400)|protein stabilization (GO:0050821)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|macromolecular complex (GO:0032991)|proteinaceous extracellular matrix (GO:0005578)	protein complex binding (GO:0032403)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						gaggaacatggcatattataa	0.433																																																	0													121	110	114					3																	33161920		2203	4300	6503	SO:0001583	missense	0			AJ006470	CCDS2657.1	3p22	2014-09-17			ENSG00000170275	ENSG00000170275			2379	protein-coding gene	gene with protein product	"leprecan-like 3"	605497				9217321, 10429950	Standard	NM_006371		Approved	CASP, LEPREL3	uc003cfl.4	O75718	OTTHUMG00000130746	ENST00000320954.6:c.556G>A	3.37:g.33161920G>A	ENSP00000323696:p.Ala186Thr		B2RBL6	Missense_Mutation	SNP	NULL	p.A186T	ENST00000320954.6	37	c.556	CCDS2657.1	3	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622347	0.66787	.	.	ENSG00000170275	ENST00000320954;ENST00000509775;ENST00000539684;ENST00000449224;ENST00000423366	T;T	0.76316	-1.01;-1.01	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.169262	0.52532	D	0.000070	T	0.79650	0.4482	M	0.79258	2.445	0.53005	D	0.999968	P;P	0.38078	0.617;0.465	B;B	0.36666	0.23;0.23	T	0.80679	-0.1275	10	0.42905	T	0.14	-1.1232	19.2744	0.94026	0.0:0.0:1.0:0.0	.	186;186	C9JP16;O75718	.;CRTAP_HUMAN	T	186;186;173;186;186	ENSP00000323696:A186T;ENSP00000409997:A186T	ENSP00000323696:A186T	A	+	1	0	CRTAP	33136924	1.000000	0.71417	0.991000	0.47740	0.911000	0.54048	6.250000	0.72435	2.638000	0.89438	0.563000	0.77884	GCA	CRTAP	-	NULL	ENSG00000170275		0.433	CRTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRTAP	HGNC	protein_coding	OTTHUMT00000253246.3	-	0	69	0	G			33161920	1	tier1	-	no_errors	ENST00000320954	ensembl	human	known	74_37	missense	17.33	62	13	SNP	1.000	A	A	33161920	G	A	33161920	3	1	87	1	0	0	0	0	1	0	0	0	3905	1203	42	3	562	3	CRTAP	3	33161920	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	166071	33161920	164860510	364	23488											
GOLGA4	2803	genome.wustl.edu	37	chr3	37368076	37368076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaattggttcagaaacttCaacattttcaagagttagga	16	12	8	5	0	3	3	3	0	0	3	3	4	3	4	0	2	2	2	0	2	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:37368076C>A	ENST00000361924.2	+	14	5073	c.4699C>A	c.(4699-4701)Caa>Aaa	p.Q1567K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1589K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1567	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCAGAAACTTCAACATTTTCA	0.303																																																	0													69	80	77					3																	37368076		2194	4292	6486	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.4699C>A	3.37:g.37368076C>A	ENSP00000354486:p.Gln1567Lys		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.Q1567K	ENST00000361924.2	37	c.4699	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281717	0.23392	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.33438	1.42;1.41;1.42	4.89	1.97	0.26223	.	0.481200	0.15537	N	0.257189	T	0.31638	0.0803	M	0.70275	2.135	0.27991	N	0.935672	B;B;B;B	0.12630	0.006;0.003;0.0;0.001	B;B;B;B	0.14578	0.011;0.003;0.002;0.002	T	0.22556	-1.0213	10	0.33141	T	0.24	.	10.703	0.45939	0.2664:0.6053:0.1283:0.0	.	1567;1567;1589;1567	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	K	1567;1589;1438	ENSP00000354486:Q1567K;ENSP00000349305:Q1589K;ENSP00000405842:Q1438K	ENSP00000349305:Q1589K	Q	+	1	0	GOLGA4	37343080	1.000000	0.71417	0.220000	0.23810	0.966000	0.64601	1.529000	0.35996	0.164000	0.19529	-0.467000	0.05162	CAA	GOLGA4	-	NULL	ENSG00000144674		0.303	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0	46	0	C	NM_002078		37368076	1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	12.73	48	7	SNP	0.970	A	A	37368076	C	A	37368076	3	1	87	1	0	0	0	0	1	0	0	0	6581	827	29	3	4823	3	GOLGA4	3	37368076	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4206156	37368076	160654354	365	23489											
GOLGA4	2803	genome.wustl.edu	37	chr3	37368806	37368806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacaagaaatattcctTgatagtagcccagcatgtgg	17	9	8	7	0	0	2	0	1	0	1	1	2	1	2	2	1	3	2	2	1	8	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:37368806T>C	ENST00000361924.2	+	14	5803	c.5429T>C	c.(5428-5430)tTg>tCg	p.L1810S	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L1832S|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1810	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAATATTCCTTGATAGTAGCC	0.378																																																	0													55	57	56					3																	37368806		2203	4300	6503	SO:0001583	missense	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.5429T>C	3.37:g.37368806T>C	ENSP00000354486:p.Leu1810Ser		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.L1810S	ENST00000361924.2	37	c.5429	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294908	0.05568	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.26067	1.76;1.76;1.77	4.44	0.703	0.18116	.	1.622650	0.04634	N	0.404176	T	0.19087	0.0458	L	0.32530	0.975	0.09310	N	1	B;B;B;B	0.15473	0.013;0.013;0.013;0.008	B;B;B;B	0.14578	0.011;0.011;0.011;0.003	T	0.27020	-1.0086	10	0.09338	T	0.73	.	9.1952	0.37224	0.0:0.2293:0.0:0.7707	.	1810;1810;1832;1810	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	S	1810;1832;1681	ENSP00000354486:L1810S;ENSP00000349305:L1832S;ENSP00000405842:L1681S	ENSP00000349305:L1832S	L	+	2	0	GOLGA4	37343810	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	0.257000	0.18369	0.297000	0.22615	0.448000	0.29417	TTG	GOLGA4	-	NULL	ENSG00000144674		0.378	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0	33	0	T	NM_002078		37368806	1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.000	C	C	37368806	T	C	37368806	3	2	87	1	0	0	0	0	1	0	0	0	6581	1821	63	4	5553	4	GOLGA4	3	37368806	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	730	37368806	160653624	366	23490											
MYD88	4615	genome.wustl.edu	37	chr3	38182018	38182018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcgatgtcctgcctggCacctgtgtctggtctattgc	4	12	12	13	2	2	0	0	0	2	0	3	2	3	0	4	2	2	1	4	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:38182018C>T	ENST00000396334.3	+	3	826	c.642C>T	c.(640-642)ggC>ggT	p.G214G	MYD88_ENST00000417037.2_Silent_p.G214G|MYD88_ENST00000495303.1_Intron|MYD88_ENST00000424893.1_Silent_p.G169G|MYD88_ENST00000443433.2_Intron|MYD88_ENST00000481122.1_3'UTR	NM_002468.4	NP_002459.2	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	201	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCTGCCTGGCACCTGTGTCT	0.567			Mis		ABC-DLBCL																																			Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	0													158	140	146					3																	38182018		2203	4300	6503	SO:0001819	synonymous_variant	0			U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"myeloid differentiation primary response gene (88)"			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000396334.3:c.642C>T	3.37:g.38182018C>T			B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Silent	SNP	pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom	p.G214	ENST00000396334.3	37	c.642	CCDS2674.2	3																																																																																			MYD88	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom	ENSG00000172936		0.567	MYD88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYD88	HGNC	protein_coding	OTTHUMT00000253743.4	-	0	62	0	C	NM_002468		38182018	1	tier1	-	no_errors	ENST00000417037	ensembl	human	known	74_37	silent	28.36	48	19	SNP	1.000	T	T	38182018	C	T	38182018	2	4	87	1	0	0	0	0	0	0	0	1	10061	697	25	3		3	MYD88	3	38182018	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	813212	38182018	159840412	367	23491											
SCN5A	6331	genome.wustl.edu	37	chr3	38622707	38622707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccgcaggagaccacaGcagaaatcccaggtggtccg	10	4	13	14	3	0	2	0	0	0	2	2	3	2	2	4	3	2	3	4	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:38622707G>A	ENST00000333535.4	-	17	3092	c.2943C>T	c.(2941-2943)tgC>tgT	p.C981C	SCN5A_ENST00000450102.2_Silent_p.C981C|SCN5A_ENST00000451551.2_Silent_p.C981C|SCN5A_ENST00000443581.1_Silent_p.C981C|SCN5A_ENST00000425664.1_Silent_p.C981C|SCN5A_ENST00000413689.1_Silent_p.C981C|SCN5A_ENST00000414099.2_Silent_p.C981C|SCN5A_ENST00000449557.2_Silent_p.C981C|SCN5A_ENST00000423572.2_Silent_p.C981C|SCN5A_ENST00000455624.2_Silent_p.C981C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	981					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGAGACCACAGCAGAAATCCC	0.677																																																	0													16	18	18					3																	38622707		1945	4141	6086	SO:0001819	synonymous_variant	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2943C>T	3.37:g.38622707G>A			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.C981	ENST00000333535.4	37	c.2943	CCDS46796.1	3																																																																																			SCN5A	-	pfam_Na_trans_assoc,prints_Na_channel_a5su	ENSG00000183873		0.677	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	-	0	37	0	G	NM_198056		38622707	-1	tier1	-	no_errors	ENST00000333535	ensembl	human	known	74_37	silent	21.88	25	7	SNP	1.000	A	A	38622707	G	A	38622707	2	1	87	1	0	0	0	0	0	0	0	1	13967	963	34	3		3	SCN5A	3	38622707	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	440689	38622707	159399723	368	23492											
TTC21A	199223	genome.wustl.edu	37	chr3	39179044	39179044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagcagatccccaaggCgcgtatgcagttgaagcgcc	10	6	12	13	3	0	3	0	2	0	1	1	3	1	3	4	1	3	4	4	1	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:39179044C>T	ENST00000431162.2	+	26	3673	c.3539C>T	c.(3538-3540)gCg>gTg	p.A1180V	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.A1181V|TTC21A_ENST00000440121.1_Missense_Mutation_p.A1132V			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1180										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATCCCCAAGGCGCGTATGCAG	0.607																																																	0													64	74	71					3																	39179044		2107	4230	6337	SO:0001583	missense	0			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"Tetratricopeptide (TTC) repeat domain containing"	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3539C>T	3.37:g.39179044C>T	ENSP00000398211:p.Ala1180Val		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A1181V	ENST00000431162.2	37	c.3542	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754333	0.69648	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	D;D;D	0.93712	-3.27;-3.27;-3.27	4.1	4.1	0.47936	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000013	D	0.97087	0.9048	M	0.90483	3.12	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	D	0.98093	1.0410	10	0.87932	D	0	-1.9529	15.0874	0.72165	0.0:1.0:0.0:0.0	.	1132;1181;1180	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	V	1181;1163;1180;1132	ENSP00000301819:A1181V;ENSP00000398211:A1180V;ENSP00000410882:A1132V	ENSP00000301819:A1181V	A	+	2	0	TTC21A	39154048	1.000000	0.71417	0.988000	0.46212	0.192000	0.23643	7.342000	0.79310	1.809000	0.52856	0.313000	0.20887	GCG	TTC21A	-	NULL	ENSG00000168026		0.607	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	HGNC	protein_coding	OTTHUMT00000377829.1		0	68	0	C	NM_145755		39179044	1			no_errors	ENST00000301819	ensembl	human	known	74_37	missense	7.35	63	5	SNP	1.000	T	T	39179044	C	T	39179044	3	4	87	1	0	0	0	0	1	0	0	0	16736	768	27	1	3644	1	TTC21A	3	39179044	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	556337	39179044	158843386	369	23493											
CTNNB1	1499	genome.wustl.edu	37	chr3	41275790	41275790	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacacagcagcaatttgtggTaggtaaattcttacagtgat	13	12	10	6	0	1	1	0	1	1	0	1	2	1	1	0	2	3	4	0	2	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:41275790T>C	ENST00000349496.5	+	10	1963		c.e10+2		CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000396183.3_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAATTTGTGGTAGGTAAATTC	0.483		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	0													102	87	92					3																	41275790		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1683+2T>C	3.37:g.41275790T>C			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Splice_Site	SNP	-	e9+2	ENST00000349496.5	37	c.1683+2	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	T	12.09	1.834740	0.32421	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9075	0.79442	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNB1	41250794	1.000000	0.71417	0.941000	0.38009	0.171000	0.22731	7.992000	0.88273	2.158000	0.67659	0.533000	0.62120	.	CTNNB1	-	-	ENSG00000168036		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2		0	32	0	T	NM_001098210	Intron	41275790	1			no_errors	ENST00000349496	ensembl	human	known	74_37	splice_site	20.00	32	8	SNP	1.000	C	C	41275790	T	C	41275790	5	2	87	1	0	0	0	0	0	0	1	0	4025	1652	57	4	1719	4	CTNNB1	3	41275790	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2096746	41275790	156746640	370	23494											
TRAK1	22906	genome.wustl.edu	37	chr3	42166922	42166922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctttagatgtgtgcaaCagcaccgatcttccggaagt	9	13	10	9	2	2	1	0	0	2	1	3	3	3	2	2	1	3	2	2	1	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:42166922C>T	ENST00000327628.5	+	2	502	c.102C>T	c.(100-102)aaC>aaT	p.N34N	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	34					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATGTGTGCAACAGCACCGATC	0.493																																					GBM(44;195 884 22595 31865 41850)												0													51	50	50					3																	42166922		1931	4144	6075	SO:0001819	synonymous_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.102C>T	3.37:g.42166922C>T			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.N34	ENST00000327628.5	37	c.102	CCDS43072.1	3																																																																																			TRAK1	-	NULL	ENSG00000182606		0.493	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0	61	0	C	NM_014965		42166922	1	tier1	-	no_errors	ENST00000327628	ensembl	human	putative	74_37	silent	6.90	54	4	SNP	1.000	T	T	42166922	C	T	42166922	2	4	87	1	0	0	0	0	0	0	0	1	16497	477	17	3		3	TRAK1	3	42166922	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	891132	42166922	155855508	371	23495											
LIMD1	8994	genome.wustl.edu	37	chr3	45637755	45637755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggagcgagagatggatGctcacccgaaggctgattac	10	8	14	9	2	2	2	1	1	1	1	2	7	2	4	1	3	3	2	1	3	2	1	rs147641879	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:45637755G>A	ENST00000273317.4	+	1	1405	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	LIMD1_ENST00000440097.1_Missense_Mutation_p.A462T|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	462					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGAGATGGATGCTCACCCGAA	0.587																																																	0													30	22	25					3																	45637755		2203	4300	6503	SO:0001583	missense	0			AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1384G>A	3.37:g.45637755G>A	ENSP00000273317:p.Ala462Thr		Q17RQ1|Q9BQQ9|Q9NQ47	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A462T	ENST00000273317.4	37	c.1384	CCDS2729.1	3	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786375	0.49997	.	.	ENSG00000144791	ENST00000440097;ENST00000273317	T;T	0.58940	0.3;0.5	4.88	2.7	0.31948	.	0.183896	0.36066	N	0.002814	T	0.38108	0.1028	N	0.19112	0.55	0.41086	D	0.985563	B	0.22683	0.073	B	0.20384	0.029	T	0.14008	-1.0488	10	0.13470	T	0.59	.	12.337	0.55073	0.1617:0.0:0.8383:0.0	.	462	Q9UGP4	LIMD1_HUMAN	T	462	ENSP00000394537:A462T;ENSP00000273317:A462T	ENSP00000273317:A462T	A	+	1	0	LIMD1	45612759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.060000	0.71141	1.043000	0.40175	0.655000	0.94253	GCT	LIMD1	-	NULL	ENSG00000144791		0.587	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD1	HGNC	protein_coding	OTTHUMT00000257327.1	-	0	39	0	G	NM_014240		45637755	1	tier1	-	no_errors	ENST00000273317	ensembl	human	known	74_37	missense	36.17	30	17	SNP	1.000	A	A	45637755	G	A	45637755	3	1	87	1	0	0	0	0	1	0	0	0	8827	1319	46	3	1386	3	LIMD1	3	45637755	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3470833	45637755	152384675	372	23496											
PRSS42	339906	genome.wustl.edu	37	chr3	46875570	46875570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggaggccccgggagcCgccgccagaggacatgtcat	8	3	15	15	4	1	1	1	0	0	1	1	4	1	4	6	4	1	0	6	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:46875570C>T	ENST00000429665.1	-	1	15	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	PRSS42_ENST00000447340.1_5'Flank	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	6					germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CCCCGGGAGCCGCCGCCAGAG	0.726																																																	0													3	6	5					3																	46875570		1698	3771	5469	SO:0001583	missense	0				CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"Serine peptidases / Serine peptidases"	30716	protein-coding gene	gene with protein product	"testis serine protease 2"					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.16G>A	3.37:g.46875570C>T	ENSP00000401701:p.Gly6Ser			Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G6S	ENST00000429665.1	37	c.16	CCDS46816.1	3	.	.	.	.	.	.	.	.	.	.	C	8.406	0.843126	0.16963	.	.	ENSG00000178055	ENST00000429665	D	0.87571	-2.27	2.85	-1.36	0.09085	.	0.739382	0.11138	N	0.595613	T	0.66607	0.2806	N	0.14661	0.345	0.09310	N	1	D	0.53745	0.962	B	0.37198	0.243	T	0.62959	-0.6743	10	0.25106	T	0.35	.	2.2014	0.03924	0.1842:0.3361:0.3612:0.1185	.	6	Q7Z5A4	PRS42_HUMAN	S	6	ENSP00000401701:G6S	ENSP00000401701:G6S	G	-	1	0	PRSS42	46850574	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.322000	0.08007	-0.355000	0.08199	-0.693000	0.03709	GGC	PRSS42	-	NULL	ENSG00000178055		0.726	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS42	HGNC	protein_coding	OTTHUMT00000344347.1	-	0	39	0	C	NM_182702		46875570	-1	tier1	-	no_errors	ENST00000429665	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	T	T	46875570	C	T	46875570	3	4	87	1	0	0	0	0	1	0	0	0	12670	652	23	1	884	1	PRSS42	3	46875570	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1237815	46875570	151146860	373	23497											
NBEAL2	23218	genome.wustl.edu	37	chr3	47033032	47033032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtaggtgcagtccatgTcttgcatgccagccgcgcac	7	9	12	13	2	1	0	0	0	1	0	2	0	2	0	3	2	4	4	3	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:47033032T>C	ENST00000450053.3	+	8	958	c.779T>C	c.(778-780)gTc>gCc	p.V260A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.V260A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	260					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCAGTCCATGTCTTGCATGCC	0.642																																																	0													59	63	61					3																	47033032		2118	4250	6368	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.779T>C	3.37:g.47033032T>C	ENSP00000415034:p.Val260Ala		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V260A	ENST00000450053.3	37	c.779	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865165	0.32977	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.58652	0.32;0.33	5.27	5.27	0.74061	.	.	.	.	.	T	0.41673	0.1169	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.004	T	0.34204	-0.9838	9	0.54805	T	0.06	.	9.3898	0.38365	0.0:0.0852:0.0:0.9148	.	253;260	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	A	260;260;253	ENSP00000292309:V260A;ENSP00000415034:V260A	ENSP00000292309:V260A	V	+	2	0	NBEAL2	47008036	0.065000	0.20965	0.983000	0.44433	0.353000	0.29299	2.108000	0.41854	1.986000	0.57962	0.460000	0.39030	GTC	NBEAL2	-	NULL	ENSG00000160796		0.642	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3		0	20	0	T	XM_291064		47033032	1			no_errors	ENST00000450053	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	C	C	47033032	T	C	47033032	3	2	87	1	0	0	0	0	1	0	0	0	10227	1667	58	4	809	4	NBEAL2	3	47033032	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	157462	47033032	150989398	374	23498											
NBEAL2	23218	genome.wustl.edu	37	chr3	47040003	47040003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagcacagacagaagctgCggaagaagtacggcgtccag	13	3	16	9	3	0	3	0	0	0	3	1	5	1	5	1	3	4	3	1	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:47040003C>T	ENST00000450053.3	+	22	3348	c.3169C>T	c.(3169-3171)Cgg>Tgg	p.R1057W	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1057W	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1057					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGAAGCTGCGGAAGAAGTA	0.607											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													57	60	59					3																	47040003		2088	4219	6307	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3169C>T	3.37:g.47040003C>T	ENSP00000415034:p.Arg1057Trp	943	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1057W	ENST00000450053.3	37	c.3169	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703133	0.68501	.	.	ENSG00000160796	ENST00000292309;ENST00000450053	T;T	0.56611	0.45;0.45	5.31	4.39	0.52855	Armadillo-like helical (1);	0.255160	0.36815	N	0.002396	T	0.65312	0.2679	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.67397	-0.5681	10	0.87932	D	0	.	7.1731	0.25728	0.1646:0.7434:0.0:0.092	.	1057	Q6ZNJ1	NBEL2_HUMAN	W	1057	ENSP00000292309:R1057W;ENSP00000415034:R1057W	ENSP00000292309:R1057W	R	+	1	2	NBEAL2	47015007	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.735000	0.55044	1.383000	0.46405	-0.367000	0.07326	CGG	NBEAL2	-	NULL	ENSG00000160796		0.607	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0	36	0	C	XM_291064		47040003	1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	T	T	47040003	C	T	47040003	3	4	87	1	0	0	0	0	1	0	0	0	10227	759	27	1	3255	1	NBEAL2	3	47040003	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6971	47040003	150982427	375	23499											
SCAP	22937	genome.wustl.edu	37	chr3	47460943	47460943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggctgtcatggacaacCtctgctggacctccacgctc	7	9	10	15	1	2	0	1	0	1	0	4	2	3	2	3	3	2	3	3	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:47460943C>A	ENST00000265565.5	-	13	2227	c.1815G>T	c.(1813-1815)gaG>gaT	p.E605D	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000441517.2_Missense_Mutation_p.E350D|SCAP_ENST00000545718.1_Missense_Mutation_p.E213D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	605					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CATGGACAACCTCTGCTGGAC	0.602																																					Pancreas(149;978 1908 29304 37806 46700)												0													92	86	88					3																	47460943		2203	4300	6503	SO:0001583	missense	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1815G>T	3.37:g.47460943C>A	ENSP00000265565:p.Glu605Asp		Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E605D	ENST00000265565.5	37	c.1815	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	8.060	0.768012	0.15983	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.80214	-1.35;-1.3;0.82	4.48	1.68	0.24146	.	1.172010	0.06252	N	0.692273	T	0.69024	0.3065	L	0.35854	1.095	0.23386	N	0.997788	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.47898	-0.9081	10	0.12766	T	0.61	-16.3724	5.8546	0.18712	0.0:0.6151:0.1411:0.2438	.	350;605	F8W921;Q12770	.;SCAP_HUMAN	D	232;605;350;213	ENSP00000265565:E605D;ENSP00000416847:E350D;ENSP00000438956:E213D	ENSP00000265565:E605D	E	-	3	2	SCAP	47435947	0.001000	0.12720	0.525000	0.27900	0.621000	0.37620	0.133000	0.15912	0.150000	0.19136	0.462000	0.41574	GAG	SCAP	-	NULL	ENSG00000114650		0.602	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0	44	0	C	NM_012235		47460943	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.985	A	A	47460943	C	A	47460943	3	1	87	1	0	0	0	0	1	0	0	0	13922	680	24	3	2068	3	SCAP	3	47460943	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	420940	47460943	150561487	376	23500											
CELSR3	1951	genome.wustl.edu	37	chr3	48679345	48679345	+	Frame_Shift_Del	DEL	C	C	-																															cagagtggccgttggaagcgCccccgcgtccggccattgtc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:48679345delC	ENST00000164024.4	-	32	9043	c.8763delG	c.(8761-8763)gggfs	p.G2921fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.G2926fs|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2921					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTTGGAAGCGCCCCCGCGTCC	0.632																																																	0													15	17	17					3																	48679345		2191	4289	6480	SO:0001589	frameshift_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8763delG	3.37:g.48679345delC	ENSP00000164024:p.Gly2921fs		O75092	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R2927fs	ENST00000164024.4	37	c.8778	CCDS2775.1	3																																																																																			CELSR3	-	NULL	ENSG00000008300		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0	80	0	C	NM_001407		48679345	-1	tier1		no_errors	ENST00000544264	ensembl	human	known	74_37	frame_shift_del	12.86	61	9	DEL	0.997	-	-	48679345	C	-	48679345	7	5	87	1	0	1	0	1	0	0	0	0	3230	726	26	0	1191	0	CELSR3	3	48679345	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1218402	48679345	149343085	377	23501											
RNF123	63891	genome.wustl.edu	37	chr3	49736506	49736506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctctttcaaggagtcCgtggccttcaactttggcag	7	12	10	12	1	3	0	2	0	1	0	5	1	4	1	3	3	2	1	3	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49736506C>T	ENST00000327697.6	+	10	876	c.732C>T	c.(730-732)tcC>tcT	p.S244S	RNF123_ENST00000432042.1_Silent_p.S98S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	244	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCAAGGAGTCCGTGGCCTTCA	0.582																																																	0													83	83	83					3																	49736506		2202	4300	6502	SO:0001819	synonymous_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.732C>T	3.37:g.49736506C>T			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.S244	ENST00000327697.6	37	c.732	CCDS33758.1	3																																																																																			RNF123	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000164068		0.582	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	-	0	35	0	C	NM_022064		49736506	1	tier1	-	no_errors	ENST00000327697	ensembl	human	known	74_37	silent	21.43	33	9	SNP	0.908	T	T	49736506	C	T	49736506	2	4	87	1	0	0	0	0	0	0	0	1	13478	639	23	1		1	RNF123	3	49736506	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1057161	49736506	148285924	378	23502											
RNF123	63891	genome.wustl.edu	37	chr3	49739823	49739823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaagtttctgcaggagaaCgccagtggccggggggtagg	8	6	18	9	3	1	1	0	0	1	1	1	2	1	1	2	6	2	4	2	6	3	2	rs375257714	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49739823C>T	ENST00000327697.6	+	19	1758	c.1614C>T	c.(1612-1614)aaC>aaT	p.N538N	RNF123_ENST00000432042.1_Silent_p.N392N	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	538					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGCAGGAGAACGCCAGTGGCC	0.572													C|||	2	0.000399361	0.0015	0	5008	,	,		20523	0		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	118	127	124		1614	-0.9	1	3		124	0,8600		0,0,4300	no	coding-synonymous	RNF123	NM_022064.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		538/1315	49739823	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.1614C>T	3.37:g.49739823C>T			A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING	p.N538	ENST00000327697.6	37	c.1614	CCDS33758.1	3																																																																																			RNF123	-	NULL	ENSG00000164068		0.572	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF123	HGNC	protein_coding	OTTHUMT00000346475.2	-	0	33	0	C	NM_022064		49739823	1	tier1	-	no_errors	ENST00000327697	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.995	T	T	49739823	C	T	49739823	2	4	87	1	0	0	0	0	0	0	0	1	13478	535	19	1		1	RNF123	3	49739823	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3317	49739823	148282607	379	23503											
CAMKV	79012	genome.wustl.edu	37	chr3	49898889	49898889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgagattcctgtgcaCgatcttgagtgagtgcaaat	10	12	10	9	1	1	3	0	3	1	1	2	5	2	3	2	0	2	2	2	0	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49898889C>T	ENST00000477224.1	-	5	902	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	CAMKV_ENST00000463537.1_Missense_Mutation_p.V142M|CAMKV_ENST00000488336.1_Missense_Mutation_p.V142M|CAMKV_ENST00000467248.1_Missense_Mutation_p.V67M|CAMKV_ENST00000466940.1_Intron|CAMKV_ENST00000296471.7_Missense_Mutation_p.V142M|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCCTGTGCACGATCTTGAGT	0.602																																																	0													78	70	73					3																	49898889		2203	4300	6503	SO:0001583	missense	0			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.424G>A	3.37:g.49898889C>T	ENSP00000419195:p.Val142Met		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V142M	ENST00000477224.1	37	c.424	CCDS33762.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246857	0.80024	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000480398	T;T;T;T;T;T	0.55930	2.5;2.5;0.77;2.5;0.49;0.49	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.38436	N	0.001684	T	0.65481	0.2695	L	0.35793	1.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.991;0.974;0.979;0.991	T	0.68655	-0.5351	10	0.87932	D	0	.	18.4692	0.90766	0.0:1.0:0.0:0.0	.	105;142;142;142	B4DMF2;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;CAMKV_HUMAN	M	142;142;142;142;67;55	ENSP00000296471:V142M;ENSP00000418809:V142M;ENSP00000417614:V142M;ENSP00000419195:V142M;ENSP00000420053:V67M;ENSP00000420000:V55M	ENSP00000296471:V142M	V	-	1	0	CAMKV	49873893	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.775000	0.85489	2.457000	0.83068	0.563000	0.77884	GTG	CAMKV	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000164076		0.602	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	HGNC	protein_coding	OTTHUMT00000350584.4	-	0	23	0	C	NM_024046		49898889	-1	tier1	-	no_errors	ENST00000477224	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	49898889	C	T	49898889	3	4	87	1	0	0	0	0	1	0	0	0	2615	536	19	1	1109	1	CAMKV	3	49898889	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	159066	49898889	148123541	380	23504											
MST1R	4486	genome.wustl.edu	37	chr3	49932626	49932626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgactcggtcactgtggGtgaccacccgctcatgggga	8	8	13	12	2	2	2	2	2	0	0	3	3	2	3	2	4	0	1	2	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49932626G>A	ENST00000296474.3	-	14	3272	c.3245C>T	c.(3244-3246)aCc>aTc	p.T1082I	MST1R_ENST00000344206.4_Missense_Mutation_p.T1033I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1082	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCACTGTGGGTGACCACCCG	0.607																																																	0													217	227	224					3																	49932626		2203	4300	6503	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3245C>T	3.37:g.49932626G>A	ENSP00000296474:p.Thr1082Ile		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.T1082I	ENST00000296474.3	37	c.3245	CCDS2807.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.512|9.512	1.105996|1.105996	0.20632|0.20632	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000440292|ENST00000296474;ENST00000344206	.|T;T	.|0.10288	.|2.89;2.89	5.84|5.84	2.08|2.08	0.27032|0.27032	.|Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.304933	.|0.42821	.|N	.|0.000660	T|T	0.03651|0.03651	0.0104|0.0104	N|N	0.02158|0.02158	-0.66|-0.66	0.19945|0.19945	N|N	0.999941|0.999941	.|B	.|0.25312	.|0.123	.|B	.|0.25291	.|0.059	T|T	0.45293|0.45293	-0.9271|-0.9271	5|10	.|0.19590	.|T	.|0.45	-11.4526|-11.4526	9.2268|9.2268	0.37412|0.37412	0.2885:0.0:0.7115:0.0|0.2885:0.0:0.7115:0.0	.|.	.|1082	.|Q04912	.|RON_HUMAN	S|I	103|1082;1033	.|ENSP00000296474:T1082I;ENSP00000341325:T1033I	.|ENSP00000296474:T1082I	P|T	-|-	1|2	0|0	MST1R|MST1R	49907630|49907630	0.752000|0.752000	0.28338|0.28338	0.998000|0.998000	0.56505|0.56505	0.993000|0.993000	0.82548|0.82548	1.476000|1.476000	0.35420|0.35420	0.107000|0.107000	0.17824|0.17824	0.561000|0.561000	0.74099|0.74099	CCC|ACC	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000164078		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	-	0	26	0	G			49932626	-1	tier1	-	no_errors	ENST00000296474	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.302	A	A	49932626	G	A	49932626	3	1	87	1	0	0	0	0	1	0	0	0	9929	1261	44	3	985	3	MST1R	3	49932626	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	33737	49932626	148089804	381	23505											
MST1R	4486	genome.wustl.edu	37	chr3	49935496	49935496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgtacctgagttttgagCtgtccttgggcagtggccgg	5	13	15	8	1	0	2	0	2	0	0	1	3	1	2	3	3	2	4	3	3	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:49935496C>T	ENST00000296474.3	-	5	1895	c.1868G>A	c.(1867-1869)aGc>aAc	p.S623N	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.S623N	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	623	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GAGTTTTGAGCTGTCCTTGGG	0.577																																																	0													83	75	78					3																	49935496		2203	4300	6503	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1868G>A	3.37:g.49935496C>T	ENSP00000296474:p.Ser623Asn		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S623N	ENST00000296474.3	37	c.1868	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	9.608	1.130631	0.21041	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.80033	-1.33;-1.33	5.65	1.6	0.23607	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.306223	0.43416	N	0.000567	T	0.66963	0.2843	N	0.19112	0.55	0.09310	N	0.999994	B;B;B;B	0.22541	0.002;0.071;0.071;0.007	B;B;B;B	0.29716	0.003;0.081;0.106;0.011	T	0.59841	-0.7378	10	0.59425	D	0.04	-14.5493	8.513	0.33229	0.0:0.5078:0.2521:0.2401	.	517;623;623;623	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	N	623	ENSP00000296474:S623N;ENSP00000341325:S623N	ENSP00000296474:S623N	S	-	2	0	MST1R	49910500	0.406000	0.25344	0.867000	0.34043	0.504000	0.33889	0.428000	0.21395	0.314000	0.23086	-0.311000	0.09066	AGC	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000164078		0.577	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1		0	32	0	C			49935496	-1			no_errors	ENST00000296474	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.025	T	T	49935496	C	T	49935496	3	4	87	1	0	0	0	0	1	0	0	0	9929	797	28	3	2398	3	MST1R	3	49935496	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2870	49935496	148086934	382	23506											
DOCK3	1795	genome.wustl.edu	37	chr3	51264793	51264793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccacagtaatagtcctcGctggggagaaattatcaaat	14	10	8	9	1	1	1	1	0	0	1	3	2	2	1	2	2	1	2	2	2	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51264793G>T	ENST00000266037.9	+	16	1480	c.1457G>T	c.(1456-1458)cGc>cTc	p.R486L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	486	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATAGTCCTCGCTGGGGAGAA	0.483																																																	0													139	133	135					3																	51264793		1836	4086	5922	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1457G>T	3.37:g.51264793G>T	ENSP00000266037:p.Arg486Leu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R486L	ENST00000266037.9	37	c.1457	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.386800	0.95967	.	.	ENSG00000088538	ENST00000266037	T	0.14391	2.51	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.23619	-1.0183	10	0.30078	T	0.28	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	486	Q8IZD9	DOCK3_HUMAN	L	486	ENSP00000266037:R486L	ENSP00000266037:R486L	R	+	2	0	DOCK3	51239833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGC	DOCK3	-	NULL	ENSG00000088538		0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	63	0	G	NM_004947		51264793	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	51264793	G	T	51264793	3	4	87	1	0	0	0	0	1	0	0	0	4702	1087	38	2	1519	2	DOCK3	3	51264793	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1329297	51264793	146757637	383	23507											
VPRBP	9730	genome.wustl.edu	37	chr3	51452148	51452148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttcatattgaacttgTcaaacttgtggatggcctgt	9	16	10	6	0	2	2	2	2	0	0	2	3	2	3	1	2	2	1	1	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51452148T>C	ENST00000335891.5	-	11	2429	c.2420A>G	c.(2419-2421)gAc>gGc	p.D807G				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1256					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATTGAACTTGTCAAACTTGTG	0.423																																																	0													155	146	149					3																	51452148		1945	4135	6080	SO:0001583	missense	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2420A>G	3.37:g.51452148T>C	ENSP00000338857:p.Asp807Gly		Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D807G	ENST00000335891.5	37	c.2420		3	.	.	.	.	.	.	.	.	.	.	T	26.8	4.774476	0.90108	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.01369	4.97;4.97	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	M	0.86864	2.845	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.00221	-1.1905	10	0.87932	D	0	-19.8083	16.1041	0.81209	0.0:0.0:0.0:1.0	.	1256	Q9Y4B6	VPRBP_HUMAN	G	827;807	ENSP00000393183:D827G;ENSP00000338857:D807G	ENSP00000338857:D807G	D	-	2	0	VPRBP	51427188	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.638000	0.83328	2.216000	0.71823	0.454000	0.30748	GAC	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000145041		0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		-	0	40	0	T	NM_014703		51452148	-1	tier1	-	no_errors	ENST00000335891	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	C	C	51452148	T	C	51452148	3	2	87	1	0	0	0	0	1	0	0	0	17234	1667	58	4	784	4	VPRBP	3	51452148	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	187355	51452148	146570282	384	23508											
RAD54L2	23132	genome.wustl.edu	37	chr3	51680478	51680478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctgaccagcatccccGccttcagccagagaaactgg	11	5	10	15	1	1	3	1	1	0	2	2	4	2	3	6	1	4	1	6	1	1	1	rs143819415		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51680478G>A	ENST00000409535.2	+	18	3132	c.3007G>A	c.(3007-3009)Gcc>Acc	p.A1003T	RAD54L2_ENST00000296477.3_Missense_Mutation_p.A697T	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1003						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAGCATCCCCGCCTTCAGCCA	0.517																																																	0								G	THR/ALA	0,4406		0,0,2203	60	54	56		3007	5.6	1	3	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	yes	missense	RAD54L2	NM_015106.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1003/1468	51680478	2,13004	2203	4300	6503	SO:0001583	missense	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.3007G>A	3.37:g.51680478G>A	ENSP00000386520:p.Ala1003Thr		Q8TB57|Q9BV54	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1003T	ENST00000409535.2	37	c.3007	CCDS33765.2	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.561507|4.561507	0.86335|0.86335	0.0|0.0	2.33E-4|2.33E-4	ENSG00000164080|ENSG00000164080	ENST00000409535;ENST00000296477|ENST00000432863	D;D|.	0.93906|.	-3.23;-3.31|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69160|0.69160	0.3080|0.3080	L|L	0.48642|0.48642	1.525|1.525	0.49915|0.49915	D|D	0.999835|0.999835	D;P|.	0.63046|.	0.992;0.703|.	P;B|.	0.48063|.	0.565;0.115|.	T|T	0.64791|0.64791	-0.6324|-0.6324	10|5	0.27785|.	T|.	0.31|.	-16.7463|-16.7463	18.6053|18.6053	0.91264|0.91264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1003;592|.	Q9Y4B4;B3KV54|.	ARIP4_HUMAN;.|.	T|H	1003;697|831	ENSP00000386520:A1003T;ENSP00000296477:A697T|.	ENSP00000296477:A697T|.	A|R	+|+	1|2	0|0	RAD54L2|RAD54L2	51655518|51655518	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.911000|0.911000	0.54048|0.54048	7.493000|7.493000	0.81493|0.81493	2.638000|2.638000	0.89438|0.89438	0.462000|0.462000	0.41574|0.41574	GCC|CGC	RAD54L2	-	NULL	ENSG00000164080		0.517	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2	-	0	29	0	G	NM_015106		51680478	1	tier1	rs143819415	no_errors	ENST00000409535	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.999	A	A	51680478	G	A	51680478	3	1	87	1	0	0	0	0	1	0	0	0	13039	1087	38	1	3073	1	RAD54L2	3	51680478	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	228330	51680478	146341952	385	23509											
GRM2	2912	genome.wustl.edu	37	chr3	51749122	51749122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaggtccgctttgacCgctttggtgatggtattggc	7	13	13	8	2	0	3	0	3	0	0	1	3	1	3	2	4	0	3	2	4	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:51749122C>T	ENST00000395052.3	+	4	1567	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.R445C	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	445					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGCTTTGACCGCTTTGGTGA	0.562																																																	0													154	124	134					3																	51749122		2203	4300	6503	SO:0001583	missense	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.1333C>T	3.37:g.51749122C>T	ENSP00000378492:p.Arg445Cys		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.R445C	ENST00000395052.3	37	c.1333	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147545	0.57151	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.88046	-2.33;-1.67	4.95	4.07	0.47477	Extracellular ligand-binding receptor (1);	0.285549	0.36167	N	0.002757	D	0.88089	0.6343	L	0.36672	1.1	0.48087	D	0.999585	D	0.61697	0.99	P	0.59595	0.86	D	0.88855	0.3322	10	0.87932	D	0	.	12.5876	0.56426	0.4284:0.5716:0.0:0.0	.	445	Q14416	GRM2_HUMAN	C	445	ENSP00000378492:R445C;ENSP00000408906:R445C	ENSP00000378492:R445C	R	+	1	0	GRM2	51724162	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.106000	0.31098	1.218000	0.43458	0.462000	0.41574	CGC	GRM2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000164082		0.562	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	-	0	80	0	C			51749122	1	tier1	-	no_errors	ENST00000395052	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.997	T	T	51749122	C	T	51749122	3	4	87	1	0	0	0	0	1	0	0	0	6824	652	23	1	1343	1	GRM2	3	51749122	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	68644	51749122	146273308	386	23510											
ACY1	95	genome.wustl.edu	37	chr3	52022810	52022810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctggagcctgagatcatgCctgctgccactgacaaccgc	8	8	10	15	1	2	2	1	2	1	1	2	4	2	3	4	1	5	1	4	1	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52022810C>T	ENST00000404366.2	+	14	1176	c.1030C>T	c.(1030-1032)Cct>Tct	p.P344S	ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S|ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000458031.2_Missense_Mutation_p.P434S|ACY1_ENST00000494103.1_Missense_Mutation_p.P272S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	344					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TGAGATCATGCCTGCTGCCAC	0.557																																																	0													159	172	168					3																	52022810		2203	4300	6503	SO:0001583	missense	0			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1030C>T	3.37:g.52022810C>T	ENSP00000384296:p.Pro344Ser		C9J6I6|C9J9D8|C9JWD4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.P434S	ENST00000404366.2	37	c.1300	CCDS2844.1	3	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644575	0.47258	.	.	ENSG00000114786;ENSG00000114786;ENSG00000114786;ENSG00000243989;ENSG00000243989;ENSG00000243989;ENSG00000243989	ENST00000458031;ENST00000463937;ENST00000232907;ENST00000476854;ENST00000476351;ENST00000494103;ENST00000404366	D;D;D;D;T;D	0.82433	-1.61;-1.61;-1.61;-1.61;0.78;-1.61	5.69	3.73	0.42828	.	0.052306	0.85682	N	0.000000	D	0.86973	0.6062	M	0.76170	2.325	0.80722	D	1	P;B	0.40534	0.72;0.345	P;B	0.50934	0.654;0.367	D	0.86241	0.1643	10	0.62326	D	0.03	-14.4207	11.9042	0.52701	0.0:0.847:0.0:0.153	.	434;344	B4DNW0;Q03154	.;ACY1_HUMAN	S	434;445;344;279;309;272;344	ENSP00000390557:P434S;ENSP00000420487:P445S;ENSP00000419262:P279S;ENSP00000417056:P309S;ENSP00000417618:P272S;ENSP00000384296:P344S	ENSP00000384296:P344S	P	+	1	0	ACY1;RP11-155D18.11	51997850	1.000000	0.71417	0.995000	0.50966	0.048000	0.14542	3.355000	0.52262	0.628000	0.30357	0.655000	0.94253	CCT	ACY1	-	pfam_Peptidase_M20,tigrfam_N-acyl_aa_amidohydrolase	ENSG00000243989		0.557	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1	-	0	50	0	C	NM_000666		52022810	1	tier1	-	no_errors	ENST00000458031	ensembl	human	known	74_37	missense	12.50	27	4	SNP	1.000	T	T	52022810	C	T	52022810	3	4	87	1	0	0	0	0	1	0	0	0	226	739	26	3	1080	3	ACY1	3	52022810	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	273688	52022810	145999620	387	23511											
NISCH	11188	genome.wustl.edu	37	chr3	52514214	52514214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcagggtggtgaagactcCcggctctcagctgccccctg	5	8	12	16	1	2	2	2	1	1	1	4	2	3	2	4	3	2	2	4	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52514214C>T	ENST00000479054.1	+	14	1503	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	NISCH_ENST00000420808.2_Silent_p.S477S|NISCH_ENST00000345716.4_Silent_p.S477S|NISCH_ENST00000488380.1_Silent_p.S477S			Q9Y2I1	NISCH_HUMAN	nischarin	477	Interaction with PAK1. {ECO:0000250}.|Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GTGAAGACTCCCGGCTCTCAG	0.647																																																	0													80	77	78					3																	52514214		2203	4300	6503	SO:0001819	synonymous_variant	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"imidazoline receptor candidate", "I-1 receptor candidate protein", "imidazoline receptor antisera selected"	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.1431C>T	3.37:g.52514214C>T			C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.S477	ENST00000479054.1	37	c.1431	CCDS33767.1	3																																																																																			NISCH	-	NULL	ENSG00000010322		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	-	0	61	0	C	NM_007184		52514214	1	tier1	-	no_errors	ENST00000345716	ensembl	human	known	74_37	silent	22.00	39	11	SNP	0.519	T	T	52514214	C	T	52514214	2	4	87	1	0	0	0	0	0	0	0	1	10471	610	22	3		3	NISCH	3	52514214	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	491404	52514214	145508216	388	23512											
PBRM1	55193	genome.wustl.edu	37	chr3	52678784	52678784	+	Frame_Shift_Del	DEL	T	T	-																															agcctttttcatataaaataTttttttaattgaatttgcat																								rs369874660		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52678784delT	ENST00000296302.7	-	8	836	c.835delA	c.(835-837)atafs	p.I279fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.I279fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.I279fs			Q86U86	PB1_HUMAN	polybromo 1	279					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I279fs*4(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		atataaaatatttttttaatt	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"																																			Rec	yes		3	3p21	55193	polybromo 1		E	7	Deletion - Frameshift(7)	kidney(7)											41	41	41					3																	52678784		2200	4299	6499	SO:0001589	frameshift_variant	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.835delA	3.37:g.52678784delT	ENSP00000296302:p.Ile279fs		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.I279fs	ENST00000296302.7	37	c.835		3																																																																																			PBRM1	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000163939		0.358	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1		0	105	0	T	NM_018165		52678784	-1	tier1		no_errors	ENST00000296302	ensembl	human	known	74_37	frame_shift_del	19.15	76	18	DEL	1.000	-	-	52678784	T	-	52678784	7	5	87	1	0	1	0	1	0	0	0	0	11530	1493	52	0	4157	0	PBRM1	3	52678784	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	164570	52678784	145343646	389	23513											
GNL3	26354	genome.wustl.edu	37	chr3	52720836	52720836	+	Frame_Shift_Del	DEL	A	A	-																															ccataagcggtataaaatccAaaaaaaggtaagtgtagtgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:52720836delA	ENST00000418458.1	+	2	238	c.65delA	c.(64-66)caafs	p.Q22fs	PBRM1_ENST00000394830.3_5'Flank|GNL3_ENST00000394799.2_Frame_Shift_Del_p.Q10fs|SNORD19B_ENST00000516978.1_RNA|GNL3_ENST00000460073.1_Intron|SNORD19_ENST00000391191.1_RNA	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	22	Basic. {ECO:0000250}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		TATAAAATCCAAAAAAAGGTA	0.388																																																	0													92	87	89					3																	52720836		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.65delA	3.37:g.52720836delA	ENSP00000395772:p.Gln22fs		B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Frame_Shift_Del	DEL	pfam_Gnl3_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.K24fs	ENST00000418458.1	37	c.65	CCDS2861.1	3																																																																																			GNL3	-	pfam_Gnl3_N_dom	ENSG00000163938		0.388	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1		0	78	0	A	NM_014366		52720836	1	tier1		no_errors	ENST00000418458	ensembl	human	known	74_37	frame_shift_del	26.32	28	10	DEL	1.000	-	-	52720836	A	-	52720836	7	5	87	1	0	1	0	1	0	0	0	0	6563	130	5	0	71	0	GNL3	3	52720836	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	42052	52720836	145301594	390	23514											
CACNA2D3	55799	genome.wustl.edu	37	chr3	54798246	54798247	+	Splice_Site	INS	-	-	T																															tcccttgggttttgacaggaINSttttttacccagatctccac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:54798246_54798247insT	ENST00000474759.1	+	13	1296_1297	c.1248_1249insT	c.(1249-1251)ttt>Tttt	p.F417fs	CACNA2D3_ENST00000490478.1_Splice_Site_p.F323fs|CACNA2D3_ENST00000288197.5_Splice_Site_p.F417fs|CACNA2D3_ENST00000415676.2_Splice_Site_p.F417fs	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	417	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TTTTGACAGGATTTTTTACCCA	0.48																																																	0																																										SO:0001630	splice_region_variant	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1247-1->T	3.37:g.54798252_54798252dupT			B2RPL6|Q9NY16|Q9NY18	Frame_Shift_Ins	INS	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.T418fs	ENST00000474759.1	37	c.1248_1249	CCDS54598.1	3																																																																																			CACNA2D3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000157445		0.48	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1		0	65	0	-		Frame_Shift_Ins	54798247	1	tier1		no_errors	ENST00000288197	ensembl	human	known	74_37	frame_shift_ins	16.88	64	13	INS	0.225:0.999	T	T	54798247	-	T	54798246	8	5	87	1	0	1	1	0	0	0	1	0	2557	347	12	0	1298	0	CACNA2D3	3	54798246	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2077410	54798246	143224184	391	23515											
LRTM1	57408	genome.wustl.edu	37	chr3	54958936	54958936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggagtgaattctgggttAgatttaaaacctgcaagtgc	14	11	11	5	0	1	2	0	1	1	1	1	3	1	3	1	2	3	2	1	2	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:54958936A>G	ENST00000273286.5	-	2	476	c.314T>C	c.(313-315)cTa>cCa	p.L105P	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.L29P	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	105						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ATTCTGGGTTAGATTTAAAAC	0.473																																																	0													56	57	57					3																	54958936		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.314T>C	3.37:g.54958936A>G	ENSP00000273286:p.Leu105Pro		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L105P	ENST00000273286.5	37	c.314	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	A	14.89	2.669781	0.47677	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.77489	-1.1;-1.1	5.74	5.74	0.90152	.	0.144833	0.48286	D	0.000183	D	0.93109	0.7806	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95819	0.8848	10	0.87932	D	0	.	16.0384	0.80648	1.0:0.0:0.0:0.0	.	105	Q9HBL6	LRTM1_HUMAN	P	105;29	ENSP00000273286:L105P;ENSP00000419772:L29P	ENSP00000273286:L105P	L	-	2	0	LRTM1	54933976	1.000000	0.71417	0.466000	0.27168	0.063000	0.16089	8.611000	0.90905	2.185000	0.69588	0.533000	0.62120	CTA	LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.473	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0	43	0	A	NM_020678		54958936	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.996	G	G	54958936	A	G	54958936	3	3	87	1	0	0	0	0	1	0	0	0	9079	420	15	4	731	4	LRTM1	3	54958936	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	160690	54958936	143063494	392	23516											
FLNB	2317	genome.wustl.edu	37	chr3	58117681	58117681	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggattcccagtcatggcGcagccccttgaaagcccttt	8	9	9	15	2	1	1	1	1	0	0	2	2	2	2	4	2	2	1	4	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:58117681G>A	ENST00000295956.4	+	26	4555				FLNB_ENST00000357272.4_Intron|FLNB_ENST00000493452.1_Intron|FLNB_ENST00000490882.1_Missense_Mutation_p.R1473H|FLNB_ENST00000358537.3_Intron|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000429972.2_Intron|FLNB_ENST00000419752.2_Intron	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CAGTCATGGCGCAGCCCCTTG	0.433																																																	0													64	59	60					3																	58117681		692	1591	2283	SO:0001627	intron_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"actin binding protein 278"	603381	"filamin B, beta (actin binding protein 278)", "Larsen syndrome 1 (autosomal dominant)"	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4391-854G>A	3.37:g.58117681G>A			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1473H	ENST00000295956.4	37	c.4418	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728065	0.69074	.	.	ENSG00000136068	ENST00000490882	D	0.85484	-1.99	5.22	0.514	0.17007	.	.	.	.	.	T	0.74997	0.3790	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61098	-0.7131	8	0.44086	T	0.13	.	5.231	0.15422	0.2695:0.0:0.5958:0.1347	.	1473	B2ZZ83	.	H	1473	ENSP00000420213:R1473H	ENSP00000420213:R1473H	R	+	2	0	FLNB	58092721	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	0.959000	0.29240	-0.216000	0.10048	0.655000	0.94253	CGC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.433	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	-	0	49	0	G	NM_001457		58117681	1	tier1	-	no_errors	ENST00000490882	ensembl	human	novel	74_37	missense	16.67	35	7	SNP	1.000	A	A	58117681	G	A	58117681	1	1	87	0	1	0	0	0	0	0	0	0	5956	1087	38	1		1	FLNB	3	58117681	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3158745	58117681	139904749	393	23517											
FEZF2	55079	genome.wustl.edu	37	chr3	62358148	62358148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcggccttgcagcacacGccacagttggttttgcacaa	9	9	10	13	2	0	0	0	0	0	0	1	0	0	0	2	2	4	6	2	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:62358148G>A	ENST00000283268.3	-	2	690	c.396C>T	c.(394-396)ggC>ggT	p.G132G	FEZF2_ENST00000475839.1_Silent_p.G132G|FEZF2_ENST00000486811.1_Silent_p.G132G	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	132					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TGCAGCACACGCCACAGTTGG	0.776																																					NSCLC(170;1772 2053 12525 15604 23984)												0													6	8	7					3																	62358148		2041	4079	6120	SO:0001819	synonymous_variant	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.396C>T	3.37:g.62358148G>A			A8K349|Q9BZ91|Q9NWB9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G132	ENST00000283268.3	37	c.396	CCDS2897.1	3																																																																																			FEZF2	-	NULL	ENSG00000153266		0.776	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	HGNC	protein_coding	OTTHUMT00000351813.1		0	15	0	G	NM_018008		62358148	-1			no_errors	ENST00000283268	ensembl	human	known	74_37	silent	18.75	12	3	SNP	1.000	A	A	62358148	G	A	62358148	2	1	87	1	0	0	0	0	0	0	0	1	5848	1074	38	1		1	FEZF2	3	62358148	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4240467	62358148	135664282	394	23518											
ADAMTS9	56999	genome.wustl.edu	37	chr3	64582642	64582642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacaacaacacgccgctggGatccgccagcacaggtactg	12	5	10	14	3	0	0	0	0	0	0	1	1	1	1	3	2	5	3	3	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:64582642G>T	ENST00000498707.1	-	27	4385	c.4043C>A	c.(4042-4044)tCc>tAc	p.S1348Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.S1320Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1348	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACGCCGCTGGGATCCGCCAGC	0.493																																																	0													101	95	97					3																	64582642		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4043C>A	3.37:g.64582642G>T	ENSP00000418735:p.Ser1348Tyr		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1348Y	ENST00000498707.1	37	c.4043	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.437947|2.437947	0.43326|0.43326	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.56103	.|0.48;0.48	5.4|5.4	3.45|3.45	0.39498|0.39498	.|.	.|0.299200	.|0.33691	.|N	.|0.004659	T|T	0.25306|0.25306	0.0615|0.0615	N|N	0.12471|0.12471	0.22|0.22	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.32573	.|0.095;0.376;0.095	.|B;B;B	.|0.36845	.|0.158;0.234;0.158	T|T	0.30475|0.30475	-0.9977|-0.9977	5|10	.|0.02654	.|T	.|1	.|.	2.3641|2.3641	0.04315|0.04315	0.2211:0.0:0.4939:0.285|0.2211:0.0:0.4939:0.285	.|.	.|1320;1348;1348	.|B7ZVX9;Q9P2N4-1;Q9P2N4	.|.;.;ATS9_HUMAN	T|Y	404|1320;1348	.|ENSP00000295903:S1320Y;ENSP00000418735:S1348Y	.|ENSP00000295903:S1320Y	P|S	-|-	1|2	0|0	ADAMTS9|ADAMTS9	64557682|64557682	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.972000|0.972000	0.66771|0.66771	5.880000|5.880000	0.69698|0.69698	1.501000|1.501000	0.48654|0.48654	-0.282000|-0.282000	0.10007|0.10007	CCC|TCC	ADAMTS9	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000163638		0.493	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0	31	0	G			64582642	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	T	T	64582642	G	T	64582642	3	4	87	1	0	0	0	0	1	0	0	0	273	1174	41	3	1816	3	ADAMTS9	3	64582642	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2224494	64582642	133439788	395	23519											
LRIG1	26018	genome.wustl.edu	37	chr3	66433685	66433685	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggggtcaagtggtgccGctcagtgaggctcagcgggc	6	7	18	10	2	4	1	4	1	0	0	4	1	4	1	1	5	2	2	1	5	1	0	rs200213153		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:66433685G>T	ENST00000273261.3	-	15	2736	c.2212C>A	c.(2212-2214)Cgg>Agg	p.R738R	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Silent_p.R715R|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	738	Ig-like C2-type 3.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AAGTGGTGCCGCTCAGTGAGG	0.622																																																	0													72	68	69					3																	66433685		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2212C>A	3.37:g.66433685G>T			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R738	ENST00000273261.3	37	c.2212	CCDS33783.1	3																																																																																			LRIG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000144749		0.622	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1		0	59	0	G	NM_015541		66433685	-1			no_errors	ENST00000273261	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.982	T	T	66433685	G	T	66433685	2	4	87	1	0	0	0	0	0	0	0	1	8979	1086	38	2		2	LRIG1	3	66433685	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1851043	66433685	131588745	396	23520											
PDZRN3	23024	genome.wustl.edu	37	chr3	73673854	73673854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccacccagggcagcacGcagccggcgcagaagacgtg	10	2	14	15	4	0	2	0	0	0	2	0	2	0	2	3	2	3	5	3	2	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:73673854G>A	ENST00000263666.4	-	1	237	c.123C>T	c.(121-123)tgC>tgT	p.C41C	PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3-AS1_ENST00000608304.1_RNA|PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3_ENST00000308537.4_Silent_p.C41C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	41					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGGCAGCACGCAGCCGGCGC	0.711																																																	0													6	6	6					3																	73673854		2129	4175	6304	SO:0001819	synonymous_variant	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.123C>T	3.37:g.73673854G>A			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.C41	ENST00000263666.4	37	c.123	CCDS33789.1	3																																																																																			PDZRN3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000121440		0.711	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	29	0	G	XM_041363		73673854	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	silent	15.62	27	5	SNP	1.000	A	A	73673854	G	A	73673854	2	1	87	1	0	0	0	0	0	0	0	1	11748	1079	38	1		1	PDZRN3	3	73673854	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7240169	73673854	124348576	397	23521											
CNTN3	5067	genome.wustl.edu	37	chr3	74313552	74313552	+	Stop_Codon_Del	DEL	T	T	-																															ataataaaaaggagttaataTcaccacaggacatatacaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:74313552delT	ENST00000263665.6	-	0	3114				CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGAGTTAATATCACCACAGGA	0.333																																																	0													88	83	85					3																	74313552		2203	4299	6502	SO:0001567	stop_retained_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	Exception_encountered	3.37:g.74313552delT	Exception_encountered		B9EK50|Q9H039	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.*1029fs	ENST00000263665.6	37	c.3087	CCDS33790.1	3																																																																																			CNTN3	-	NULL	ENSG00000113805		0.333	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1		0	60	0	T	NM_020872		74313552	-1	tier1		no_errors	ENST00000263665	ensembl	human	known	74_37	frame_shift_del	15.62	54	10	DEL	0.982	-	-	74313552	T	-	74313552	7	5	87	1	0	1	0	1	0	0	0	0	3649	1448	50	0	3	0	CNTN3	3	74313552	Stop_Codon_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	639698	74313552	123708878	398	23522											
ROBO1	6091	genome.wustl.edu	37	chr3	78685185	78685185	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaggtccacatcaccataAacagttgactcagggagcat	14	8	8	11	0	2	1	2	1	0	0	3	2	3	2	2	2	2	2	2	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:78685185A>C	ENST00000464233.1	-	23	3224	c.3111T>G	c.(3109-3111)gtT>gtG	p.V1037V	ROBO1_ENST00000495273.1_Silent_p.V992V|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000436010.2_Silent_p.V998V	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1037					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATCACCATAAACAGTTGACT	0.393																																																	0													86	85	85					3																	78685185		1940	4135	6075	SO:0001819	synonymous_variant	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3111T>G	3.37:g.78685185A>C			B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1037	ENST00000464233.1	37	c.3111	CCDS54611.1	3																																																																																			ROBO1	-	NULL	ENSG00000169855		0.393	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	80	0	A	NM_002941		78685185	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	silent	21.74	72	20	SNP	0.991	C	C	78685185	A	C	78685185	2	2	87	1	0	0	0	0	0	0	0	1	13558	1	1	4		4	ROBO1	3	78685185	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4371633	78685185	119337245	399	23523											
ROBO1	6091	genome.wustl.edu	37	chr3	78685252	78685252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgttataatttgctataCaatcagctatgtgcaatgga	12	15	9	5	0	1	0	1	0	0	0	1	1	1	1	0	2	4	5	0	2	7	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:78685252C>T	ENST00000464233.1	-	23	3157	c.3044G>A	c.(3043-3045)tGt>tAt	p.C1015Y	ROBO1_ENST00000495273.1_Missense_Mutation_p.C970Y|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000436010.2_Missense_Mutation_p.C976Y	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1015					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTTGCTATACAATCAGCTAT	0.348																																																	0													40	39	39					3																	78685252		1862	4091	5953	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10249	protein-coding gene	gene with protein product		602430	"roundabout (axon guidance receptor, Drosophila) homolog 1"			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3044G>A	3.37:g.78685252C>T	ENSP00000420321:p.Cys1015Tyr		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C1015Y	ENST00000464233.1	37	c.3044	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550256	0.65311	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000398414	T;T;T	0.61274	0.14;0.12;0.2	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.73040	0.3536	L	0.51422	1.61	0.80722	D	1	D;D;D;B	0.76494	0.997;0.964;0.999;0.371	D;P;D;B	0.85130	0.994;0.714;0.997;0.217	T	0.68202	-0.5471	9	.	.	.	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	979;1015;970;976	Q9Y6N7-3;Q9Y6N7;B2RXI1;Q9Y6N7-4	.;ROBO1_HUMAN;.;.	Y	976;970;1015;970;1019	ENSP00000406043:C976Y;ENSP00000420321:C1015Y;ENSP00000420637:C970Y	.	C	-	2	0	ROBO1	78767942	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	7.270000	0.78493	2.835000	0.97688	0.650000	0.86243	TGT	ROBO1	-	NULL	ENSG00000169855		0.348	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	-	0	53	0	C	NM_002941		78685252	-1	tier1	-	no_errors	ENST00000464233	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	T	T	78685252	C	T	78685252	3	4	87	1	0	0	0	0	1	0	0	0	13558	478	17	3	1947	3	ROBO1	3	78685252	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	67	78685252	119337178	400	23524											
ARL13B	200894	genome.wustl.edu	37	chr3	93768343	93768343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcctgagagtccaaCgccacccccaccccctcctc	6	7	6	22	1	0	1	0	1	0	1	4	2	3	1	8	0	2	1	8	0	1	0	rs369850890		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:93768343C>T	ENST00000394222.3	+	8	1393	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.T266M|ARL13B_ENST00000539730.1_Missense_Mutation_p.T94M|ARL13B_ENST00000471138.1_Missense_Mutation_p.T373M|ARL13B_ENST00000535334.1_Missense_Mutation_p.T270M	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	373	Pro-rich.				cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						GAGAGTCCAACGCCACCCCCA	0.373																																																	0								C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	80	81	81		1118,809,797,1118	4.2	0.9	3		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ARL13B	NM_001174150.1,NM_001174151.1,NM_144996.3,NM_182896.2	81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	373/429,270/326,266/322,373/429	93768343	1,13005	2203	4300	6503	SO:0001583	missense	0			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1118C>T	3.37:g.93768343C>T	ENSP00000377769:p.Thr373Met		D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.T373M	ENST00000394222.3	37	c.1118	CCDS2925.1	3	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113657	0.56398	0.0	1.16E-4	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.67171	1.56;-0.25;-0.0;-0.0;0.75	5.12	4.2	0.49525	.	0.185256	0.45867	D	0.000328	T	0.77558	0.4148	M	0.66939	2.045	0.80722	D	1	D;P;D;D	0.76494	0.995;0.598;0.999;0.962	P;B;P;P	0.61397	0.8;0.057;0.888;0.558	T	0.80797	-0.1222	10	0.72032	D	0.01	-22.0859	15.2234	0.73330	0.0:0.859:0.141:0.0	.	270;373;266;373	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	M	270;266;373;373;94	ENSP00000445145:T270M;ENSP00000306225:T266M;ENSP00000377769:T373M;ENSP00000420780:T373M;ENSP00000437977:T94M	ENSP00000306225:T266M	T	+	2	0	ARL13B	95251033	0.123000	0.22298	0.869000	0.34112	0.474000	0.32979	1.925000	0.40074	2.387000	0.81309	0.591000	0.81541	ACG	ARL13B	-	NULL	ENSG00000169379		0.373	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	-	0	80	0	C	NM_182896		93768343	1	tier1	-	no_errors	ENST00000394222	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.956	T	T	93768343	C	T	93768343	3	4	87	1	0	0	0	0	1	0	0	0	929	536	19	1	1148	1	ARL13B	3	93768343	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	15083091	93768343	104254087	401	23525											
DHFRL1	200895	genome.wustl.edu	37	chr3	93780332	93780332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttttgggacacagcgacGatgcagtttagcaaaagaaa	15	9	11	6	2	0	1	0	0	0	1	0	4	0	2	0	1	3	4	0	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:93780332G>A	ENST00000394221.2	-	2	473	c.24C>T	c.(22-24)atC>atT	p.I8I	DHFRL1_ENST00000481631.1_5'UTR|NSUN3_ENST00000314622.4_5'Flank|DHFRL1_ENST00000314636.2_Silent_p.I8I	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	8	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				glycine biosynthetic process (GO:0006545)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|thymidine biosynthetic process (GO:0046105)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dihydrofolate reductase activity (GO:0004146)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						ACACAGCGACGATGCAGTTTA	0.532																																																	0													65	68	67					3																	93780332		2127	4232	6359	SO:0001819	synonymous_variant	0			AL832912	CCDS2926.1	3q11.2	2005-08-16	2005-02-07		ENSG00000178700	ENSG00000178700			27309	protein-coding gene	gene with protein product			"dihydrofolate reductase pseudogene 4"	DHFRP4		12477932	Standard	NM_001195643		Approved	FLJ16119	uc003drj.3	Q86XF0	OTTHUMG00000159014	ENST00000394221.2:c.24C>T	3.37:g.93780332G>A			D3DN30|Q6P4I9	Silent	SNP	pfam_DHFR_dom,superfamily_DHFR-like_dom,prints_DHFR	p.I8	ENST00000394221.2	37	c.24	CCDS2926.1	3																																																																																			DHFRL1	-	pfam_DHFR_dom,superfamily_DHFR-like_dom	ENSG00000178700		0.532	DHFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHFRL1	HGNC	protein_coding	OTTHUMT00000352910.1	-	0	89	0	G	NM_176815		93780332	-1	tier1	-	no_errors	ENST00000314636	ensembl	human	known	74_37	silent	16.42	56	11	SNP	1.000	A	A	93780332	G	A	93780332	2	1	87	1	0	0	0	0	0	0	0	1	4496	1048	37	1		1	DHFRL1	3	93780332	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	11989	93780332	104242098	402	23526											
TBC1D23	55773	genome.wustl.edu	37	chr3	100014178	100014180	+	In_Frame_Del	DEL	AAG	AAG	-																															aacacaagagtcagacagcaAagaagaagttatcagtaagt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:100014178_100014180delAAG	ENST00000394144.4	+	7	765_767	c.758_760delAAG	c.(757-762)aaagaa>aaa	p.E255del	TBC1D23_ENST00000475134.1_In_Frame_Del_p.E118del|TBC1D23_ENST00000344949.5_In_Frame_Del_p.E255del|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	255					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.E255del(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCAGACAGCAAAGAAGAAGTTAT	0.31																																																	1	Deletion - In frame(1)	liver(1)																																								SO:0001651	inframe_deletion	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.758_760delAAG	3.37:g.100014184_100014186delAAG	ENSP00000377700:p.Glu255del		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	In_Frame_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.E255in_frame_del	ENST00000394144.4	37	c.758_760	CCDS56265.1	3																																																																																			TBC1D23	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000036054		0.31	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1		0	49	0	AAG	NM_018309		100014180	1	tier1		no_errors	ENST00000394144	ensembl	human	known	74_37	in_frame_del	13.11	53	8	DEL	1.000:1.000:1.000	-	-	100014180	AAG	-	100014178	7	5	87	1	0	1	0	1	0	0	0	0	15660	14	1	0	784	0	TBC1D23	3	100014178	In_Frame_Del	DEL	AAG	TCGA-L5-A8NM-01A-11D-A37C-09	6233846	100014178	98008252	403	23527											
ZBTB11	27107	genome.wustl.edu	37	chr3	101371366	101371366	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgttcatgtgtctcctaTactctcttagctgagtgaat	7	17	9	8	0	3	2	1	2	2	0	5	2	3	2	1	1	2	3	1	1	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:101371366T>A	ENST00000312938.4	-	10	3198	c.2618A>T	c.(2617-2619)tAt>tTt	p.Y873F		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTGTCTCCTATACTCTCTTAG	0.383																																																	0													156	158	157					3																	101371366		2202	4300	6502	SO:0001583	missense	0			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2618A>T	3.37:g.101371366T>A	ENSP00000326200:p.Tyr873Phe		Q2NKP9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.Y873F	ENST00000312938.4	37	c.2618	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	T	24.2	4.502646	0.85176	.	.	ENSG00000066422	ENST00000312938	T	0.49139	0.79	5.4	5.4	0.78164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.48978	0.1530	N	0.05158	-0.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60915	-0.7168	10	0.56958	D	0.05	-18.8329	15.7265	0.77763	0.0:0.0:0.0:1.0	.	873	O95625	ZBT11_HUMAN	F	873	ENSP00000326200:Y873F	ENSP00000326200:Y873F	Y	-	2	0	ZBTB11	102854056	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	5.899000	0.69846	2.169000	0.68431	0.528000	0.53228	TAT	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066422		0.383	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	-	0	66	0	T	NM_014415		101371366	-1	tier1	-	no_errors	ENST00000312938	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	A	A	101371366	T	A	101371366	3	1	87	1	0	0	0	0	1	0	0	0	17572	1406	49	5	551	5	ZBTB11	3	101371366	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1357188	101371366	96651064	404	23528											
FAM55C	91775	genome.wustl.edu	37	chr3	101540493	101540493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggaagtgtacatccggCggctcaggaacatccgtcga	9	9	12	11	4	1	0	1	0	0	0	4	3	3	2	2	4	2	2	2	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:101540493C>T	ENST00000491511.2	+	8	2331	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	NXPE3_ENST00000422132.1_Missense_Mutation_p.R459W|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000273347.5_Missense_Mutation_p.R459W|NXPE3_ENST00000477909.1_Missense_Mutation_p.R459W	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	459						extracellular region (GO:0005576)											GTACATCCGGCGGCTCAGGAA	0.577																																																	0													101	95	97					3																	101540493		2203	4300	6503	SO:0001583	missense	0			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"family with sequence similarity 55, member C"	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1375C>T	3.37:g.101540493C>T	ENSP00000417485:p.Arg459Trp		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.R459W	ENST00000491511.2	37	c.1375	CCDS2945.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003081	0.74932	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	6.03	1.5	0.22942	.	0.050144	0.85682	N	0.000000	T	0.60547	0.2277	M	0.87180	2.865	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.71056	-0.4703	10	0.62326	D	0.03	-28.2574	17.6059	0.88037	0.7276:0.2724:0.0:0.0	.	459	Q969Y0	FA55C_HUMAN	W	459	ENSP00000273347:R459W;ENSP00000417485:R459W;ENSP00000418369:R459W;ENSP00000396421:R459W	ENSP00000273347:R459W	R	+	1	2	FAM55C	103023183	0.891000	0.30450	0.999000	0.59377	0.994000	0.84299	0.620000	0.24403	0.241000	0.21283	0.655000	0.94253	CGG	NXPE3	-	NULL	ENSG00000144815		0.577	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPE3	HGNC	protein_coding	OTTHUMT00000353711.2	-	0	49	0	C	NM_145037		101540493	1	tier1	-	no_errors	ENST00000273347	ensembl	human	known	74_37	missense	22.73	33	10	SNP	0.997	T	T	101540493	C	T	101540493	3	4	87	1	0	0	0	0	1	0	0	0	5608	759	27	1	1393	1	FAM55C	3	101540493	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	169127	101540493	96481937	405	23529											
ALCAM	214	genome.wustl.edu	37	chr3	105250904	105250904	+	Frame_Shift_Del	DEL	A	A	-																															tttctcgaaacagagcagctAaaaaaggtaagaattgtttt																								rs371767685		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:105250904delA	ENST00000306107.5	+	4	953	c.453delA	c.(451-453)ctafs	p.L151fs	ALCAM_ENST00000486979.2_Frame_Shift_Del_p.L100fs|ALCAM_ENST00000389927.4_5'Flank|ALCAM_ENST00000472644.2_Frame_Shift_Del_p.L151fs|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	151	Ig-like V-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)	p.L151L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CAGAGCAGCTAAAAAAGGTAA	0.343																																																	1	Substitution - coding silent(1)	lung(1)											125	133	130					3																	105250904		2203	4300	6503	SO:0001589	frameshift_variant	0			AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	400	protein-coding gene	gene with protein product		601662	"activated leucocyte cell adhesion molecule"			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.453delA	3.37:g.105250904delA	ENSP00000305988:p.Leu151fs		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Frame_Shift_Del	DEL	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.K153fs	ENST00000306107.5	37	c.453	CCDS33810.1	3																																																																																			ALCAM	-	pfam_CD80_C2-set,pfscan_Ig-like_dom	ENSG00000170017		0.343	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALCAM	HGNC	protein_coding	OTTHUMT00000353764.1		0	43	0	A	NM_001627		105250904	1	tier1		no_errors	ENST00000306107	ensembl	human	known	74_37	frame_shift_del	27.27	24	9	DEL	0.891	-	-	105250904	A	-	105250904	7	5	87	1	0	1	0	1	0	0	0	0	487	349	13	0	467	0	ALCAM	3	105250904	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	3710411	105250904	92771526	406	23530											
CBLB	868	genome.wustl.edu	37	chr3	105377882	105377882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatgctccgggcaacttCgacattattctgggctatct	8	12	11	10	2	2	0	0	0	2	0	4	3	3	1	1	3	2	3	1	3	3	4	rs561530977		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:105377882C>T	ENST00000264122.4	-	19	3202	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	CBLB_ENST00000407712.1_Missense_Mutation_p.E176K|CBLB_ENST00000394027.3_Missense_Mutation_p.E939K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	961	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CGGGCAACTTCGACATTATTC	0.468			Mis S		AML								C|||	1	0.000199681	8e-04	0	5008	,	,		18434	0		0	False		,,,				2504	0				GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													117	113	114					3																	105377882		2203	4300	6503	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"RING-type (C3HC4) zinc fingers"	1542	protein-coding gene	gene with protein product		604491	"Cas-Br-M (murine) ectropic retroviral transforming sequence b", "Cas-Br-M (murine) ecotropic retroviral transforming sequence b"			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.2881G>A	3.37:g.105377882C>T	ENSP00000264122:p.Glu961Lys		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.E961K	ENST00000264122.4	37	c.2881	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692777	0.68271	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.65	3.86	0.44501	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);	0.310145	0.38326	N	0.001727	T	0.27063	0.0663	L	0.27053	0.805	0.80722	D	1	B;P;P	0.40794	0.001;0.729;0.729	B;B;B	0.31869	0.005;0.086;0.137	T	0.07214	-1.0784	10	0.87932	D	0	-16.7666	11.9175	0.52774	0.0:0.8591:0.0:0.1409	.	939;961;939	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	K	300;961;176;939	ENSP00000377598:E300K;ENSP00000264122:E961K;ENSP00000384170:E176K;ENSP00000377595:E939K	ENSP00000264122:E961K	E	-	1	0	CBLB	106860572	1.000000	0.71417	0.920000	0.36463	0.996000	0.88848	6.754000	0.74909	0.727000	0.32360	0.655000	0.94253	GAA	CBLB	-	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000114423		0.468	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	-	0	75	0	C	NM_170662		105377882	-1	tier1	-	no_errors	ENST00000264122	ensembl	human	known	74_37	missense	35.59	38	21	SNP	1.000	T	T	105377882	C	T	105377882	3	4	87	1	0	0	0	0	1	0	0	0	2708	893	31	1	71	1	CBLB	3	105377882	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	126978	105377882	92644548	407	23531											
MORC1	27136	genome.wustl.edu	37	chr3	108773580	108773580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctattgaatactcactgatgCcggtgtccttacagtactgg	9	13	9	10	1	1	2	1	2	0	0	2	2	2	2	2	2	4	1	2	2	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:108773580C>T	ENST00000483760.1	-	14	1368	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	MORC1_ENST00000232603.5_Missense_Mutation_p.G442D					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACTGATGCCGGTGTCCTT	0.373																																																	0													165	158	161					3																	108773580		2203	4300	6503	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1325G>A	3.37:g.108773580C>T	ENSP00000417282:p.Gly442Asp			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G442D	ENST00000483760.1	37	c.1325		3	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317947	0.60524	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05786	3.4;3.39	5.09	5.09	0.68999	.	0.000000	0.51477	D	0.000092	T	0.16385	0.0394	M	0.62723	1.935	0.40469	D	0.980329	D;P	0.65815	0.995;0.791	P;B	0.58660	0.843;0.412	T	0.00357	-1.1792	10	0.37606	T	0.19	-5.0104	11.6626	0.51356	0.0:0.8214:0.1786:0.0	.	442;442	E7ERX1;Q86VD1	.;MORC1_HUMAN	D	442	ENSP00000232603:G442D;ENSP00000417282:G442D	ENSP00000232603:G442D	G	-	2	0	MORC1	110256270	0.601000	0.26907	0.985000	0.45067	0.979000	0.70002	2.183000	0.42565	2.638000	0.89438	0.650000	0.86243	GGC	MORC1	-	NULL	ENSG00000114487		0.373	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0	48	0	C			108773580	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	18.37	40	9	SNP	0.909	T	T	108773580	C	T	108773580	3	4	87	1	0	0	0	0	1	0	0	0	9739	739	26	3	1689	3	MORC1	3	108773580	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3395698	108773580	89248850	408	23532											
MORC1	27136	genome.wustl.edu	37	chr3	108812346	108812346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacatccaactctggttctCcattaagcagaagcttcaag	13	11	6	11	0	3	1	1	0	2	1	5	1	4	1	2	1	4	3	2	1	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:108812346C>A	ENST00000483760.1	-	8	669	c.626G>T	c.(625-627)gGa>gTa	p.G209V	MORC1_ENST00000232603.5_Missense_Mutation_p.G209V					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCTGGTTCTCCATTAAGCAG	0.358																																																	0													135	127	130					3																	108812346		2203	4300	6503	SO:0001583	missense	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.626G>T	3.37:g.108812346C>A	ENSP00000417282:p.Gly209Val			Missense_Mutation	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.G209V	ENST00000483760.1	37	c.626		3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467964	0.84533	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.71103	-0.54;-0.54	4.85	4.85	0.62838	ATPase-like, ATP-binding domain (1);	0.000000	0.45361	D	0.000377	D	0.86997	0.6068	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;0.969	D;P	0.87578	0.998;0.876	D	0.89698	0.3903	10	0.72032	D	0.01	-24.9337	15.5477	0.76118	0.0:1.0:0.0:0.0	.	209;209	E7ERX1;Q86VD1	.;MORC1_HUMAN	V	209	ENSP00000232603:G209V;ENSP00000417282:G209V	ENSP00000232603:G209V	G	-	2	0	MORC1	110295036	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.475000	0.73582	2.532000	0.85374	0.650000	0.86243	GGA	MORC1	-	superfamily_HATPase_ATP-bd	ENSG00000114487		0.358	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0	39	0	C			108812346	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	A	A	108812346	C	A	108812346	3	1	87	1	0	0	0	0	1	0	0	0	9739	855	30	3	2412	3	MORC1	3	108812346	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	38766	108812346	89210084	409	23533											
TMPRSS7	344805	genome.wustl.edu	37	chr3	111764731	111764731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagacaagcatcataaaccGgacctctgtggggagcttgc	11	7	11	12	1	2	1	1	0	1	1	2	3	2	3	3	3	4	2	3	3	3	2	rs376478648		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:111764731G>A	ENST00000452346.2	+	5	635	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R98Q			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	211	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATCATAAACCGGACCTCTGTG	0.493																																																	0								G	GLN/ARG	0,1384		0,0,692	211	186	193		293	5.1	1	3		193	1,3181		0,1,1590	no	missense	TMPRSS7	NM_001042575.2	43	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	probably-damaging	98/718	111764731	1,4565	692	1591	2283	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.632G>A	3.37:g.111764731G>A	ENSP00000398236:p.Arg211Gln		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.R98Q	ENST00000452346.2	37	c.293		3	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924859	0.92319	0.0	3.14E-4	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127;ENST00000460599	T;T;T	0.40225	1.04;1.04;1.04	5.06	5.06	0.68205	.	.	.	.	.	T	0.51584	0.1683	L	0.29908	0.895	0.39442	D	0.967261	D	0.89917	1.0	D	0.83275	0.996	T	0.43734	-0.9373	9	0.30078	T	0.28	.	15.8068	0.78520	0.0:0.0:1.0:0.0	.	98	Q7RTY8-2	.	Q	211;198;198;98;74	ENSP00000398236:R211Q;ENSP00000411645:R98Q;ENSP00000447563:R74Q	ENSP00000411645:R98Q	R	+	2	0	TMPRSS7	113247421	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.709000	0.84645	2.763000	0.94921	0.655000	0.94253	CGG	TMPRSS7	-	NULL	ENSG00000176040		0.493	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	-	0	128	0	G	XM_293599		111764731	1	tier1	-	no_errors	ENST00000419127	ensembl	human	known	74_37	missense	24.82	102	34	SNP	1.000	A	A	111764731	G	A	111764731	3	1	87	1	0	0	0	0	1	0	0	0	16299	1116	39	1	303	1	TMPRSS7	3	111764731	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2952385	111764731	86257699	410	23534											
SLC9A10	285335	genome.wustl.edu	37	chr3	111936361	111936362	+	Frame_Shift_Ins	INS	-	-	T																															ttttctagcaaaggtaactgINSttttttggctttcagaataa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:111936361_111936362insT	ENST00000305815.5	-	15	1969_1970	c.1717_1718insA	c.(1717-1719)acafs	p.T573fs	SLC9C1_ENST00000487372.1_Frame_Shift_Ins_p.T525fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	573					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAAGGTAACTGTTTTTTGGCTT	0.297																																																	0																																										SO:0001589	frameshift_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.1718dupA	3.37:g.111936367_111936367dupT	ENSP00000306627:p.Thr573fs		Q6ZRP4|Q7RTP2	Frame_Shift_Ins	INS	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.T573fs	ENST00000305815.5	37	c.1718_1717	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.297	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1		0	77	0	-	NM_183061		111936362	-1	tier1		no_errors	ENST00000305815	ensembl	human	known	74_37	frame_shift_ins	11.76	75	10	INS	0.000:0.000	T	T	111936362	-	T	111936361	7	5	87	1	0	1	1	0	0	0	0	0	14755	1377	48	0	1875	0	SLC9A10	3	111936361	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	171630	111936361	86086069	411	23535											
SIDT1	54847	genome.wustl.edu	37	chr3	113322843	113322843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatttgtccaggaaggacCggagaattgtcagcaaaaaa	16	7	11	7	1	1	2	1	0	0	2	2	5	2	4	2	3	1	1	2	3	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:113322843C>T	ENST00000264852.4	+	13	2026	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.R434W	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	434					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CAGGAAGGACCGGAGAATTGT	0.363																																																	0													87	79	82					3																	113322843		2203	4300	6503	SO:0001583	missense	0			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1300C>T	3.37:g.113322843C>T	ENSP00000264852:p.Arg434Trp		Q17RR4	Missense_Mutation	SNP	NULL	p.R434W	ENST00000264852.4	37	c.1300	CCDS2974.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064150	0.76187	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.24151	1.87;1.87	6.17	4.33	0.51752	.	0.000000	0.56097	D	0.000026	T	0.44244	0.1284	L	0.53249	1.67	0.47183	D	0.999344	D;D	0.71674	0.998;0.996	D;D	0.65987	0.94;0.935	T	0.35351	-0.9792	10	0.62326	D	0.03	-17.2654	14.1922	0.65646	0.3889:0.6111:0.0:0.0	.	434;434	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	W	434	ENSP00000264852:R434W;ENSP00000377416:R434W	ENSP00000264852:R434W	R	+	1	2	SIDT1	114805533	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.515000	0.45512	0.871000	0.35750	0.655000	0.94253	CGG	SIDT1	-	NULL	ENSG00000072858		0.363	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	-	0	69	0	C	NM_017699		113322843	1	tier1	-	no_errors	ENST00000393830	ensembl	human	known	74_37	missense	22.03	46	13	SNP	1.000	T	T	113322843	C	T	113322843	3	4	87	1	0	0	0	0	1	0	0	0	14347	643	23	1	1350	1	SIDT1	3	113322843	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1386482	113322843	84699587	412	23536											
KIAA2018	205717	genome.wustl.edu	37	chr3	113376110	113376111	+	In_Frame_Ins	INS	-	-	TGC																															ctgcttgttgttgttgctgtINStgctgctgctgctgctgctg																								rs59601191|rs112313093|rs10606566|rs59990801|rs397990842		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:113376110_113376111insTGC	ENST00000478658.1	-	5	4435_4436	c.4418_4419insGCA	c.(4417-4419)caa>caGCAa	p.1473_1473Q>QQ	KIAA2018_ENST00000316407.4_In_Frame_Ins_p.1473_1473Q>QQ|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1473	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gttgttgctgttgctgctgctg	0.51																																																	0																																										SO:0001652	inframe_insertion	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4416_4418dupGCA	3.37:g.113376117_113376119dupTGC	ENSP00000420721:p.Gln1478dup		Q7Z3L9|Q8IVF3|Q9H8T4	In_Frame_Ins	INS	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.1477in_frame_insQ	ENST00000478658.1	37	c.4419_4418	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.51	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0	32	0	-	NM_001009899		113376111	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	in_frame_ins	18.92	30	7	INS	0.543:0.994	TGC	TGC	113376111	-	TGC	113376110	7	5	87	1	0	1	1	0	0	0	0	0	8295	1722	60	0	2322	0	KIAA2018	3	113376110	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	53267	113376110	84646320	413	23537											
ZBTB20	26137	genome.wustl.edu	37	chr3	114069876	114069876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcactcctcggattcgttgCgttccaggatctgcaccctt	5	13	9	14	3	1	0	0	0	1	0	5	2	3	2	3	2	3	4	3	2	0	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:114069876C>T	ENST00000474710.1	-	4	1227	c.1049G>A	c.(1048-1050)cGc>cAc	p.R350H	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R277H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R277H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R277H|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R277H|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R277H|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R277H	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	350						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGATTCGTTGCGTTCCAGGAT	0.582																																					NSCLC(69;748 1344 9802 11203 30933)												0													130	91	104					3																	114069876		2203	4300	6503	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1049G>A	3.37:g.114069876C>T	ENSP00000419153:p.Arg350His		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R350H	ENST00000474710.1	37	c.1049	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439295	0.63067	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.12147	2.78;2.78;2.78;2.78;2.71;2.78;2.78	5.28	4.39	0.52855	.	0.102002	0.44483	D	0.000456	T	0.10078	0.0247	N	0.19112	0.55	0.42428	D	0.992661	B	0.02656	0.0	B	0.01281	0.0	T	0.11372	-1.0590	10	0.40728	T	0.16	.	14.3553	0.66733	0.0:0.928:0.0:0.072	.	350	Q9HC78	ZBT20_HUMAN	H	277;277;277;277;350;277;277	ENSP00000420324:R277H;ENSP00000377375:R277H;ENSP00000418092:R277H;ENSP00000419902:R277H;ENSP00000419153:R350H;ENSP00000349803:R277H;ENSP00000417307:R277H	ENSP00000349803:R277H	R	-	2	0	ZBTB20	115552566	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.891000	0.56227	2.763000	0.94921	0.650000	0.86243	CGC	ZBTB20	-	NULL	ENSG00000181722		0.582	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0	52	0	C	NM_015642		114069876	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	T	T	114069876	C	T	114069876	3	4	87	1	0	0	0	0	1	0	0	0	17577	768	27	1	1184	1	ZBTB20	3	114069876	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	693766	114069876	83952554	414	23538											
GAP43	2596	genome.wustl.edu	37	chr3	115395200	115395200	+	Frame_Shift_Del	DEL	C	C	-																															tgctgccacagagcaggcagCcccccaggctcctgcatcct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:115395200delC	ENST00000305124.6	+	2	737	c.371delC	c.(370-372)gccfs	p.A124fs	GAP43_ENST00000393780.3_Frame_Shift_Del_p.A160fs	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	124					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAGCAGGCAGCCCCCCAGGCT	0.607																																																	0													27	31	30					3																	115395200		2203	4298	6501	SO:0001589	frameshift_variant	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"neuron growth-associated protein 43", "neuromodulin", "nerve growth-related peptide GAP43", "axonal membrane protein GAP-43", "protein F1", "calmodulin-binding protein P-57", "neural phosphoprotein B-50"	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.371delC	3.37:g.115395200delC	ENSP00000305010:p.Ala124fs		A8K0Y4	Frame_Shift_Del	DEL	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.Q126fs	ENST00000305124.6	37	c.371	CCDS33830.1	3																																																																																			GAP43	-	pfam_Neuromodulin_C	ENSG00000172020		0.607	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2		0	99	0	C	NM_002045		115395200	1	tier1		no_errors	ENST00000305124	ensembl	human	known	74_37	frame_shift_del	6.17	76	5	DEL	1.000	-	-	115395200	C	-	115395200	7	5	87	1	0	1	0	1	0	0	0	0	6260	739	26	0	519	0	GAP43	3	115395200	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1325324	115395200	82627230	415	23539											
LRRC58	116064	genome.wustl.edu	37	chr3	120050241	120050241	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttgtctgacacagcAgtcaaagtagactcctaaag	14	12	7	8	0	2	2	1	1	1	1	3	2	3	2	1	0	1	2	1	0	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:120050241A>T	ENST00000295628.3	-	4	1017	c.922T>A	c.(922-924)Tgc>Agc	p.C308S		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	308										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CTGACACAGCAGTCAAAGTAG	0.408																																																	0													56	56	56					3																	120050241		1876	4103	5979	SO:0001583	missense	0			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.922T>A	3.37:g.120050241A>T	ENSP00000295628:p.Cys308Ser			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C308S	ENST00000295628.3	37	c.922	CCDS46892.1	3	.	.	.	.	.	.	.	.	.	.	A	5.392	0.257518	0.10239	.	.	ENSG00000163428	ENST00000295628	T	0.37584	1.19	5.61	5.61	0.85477	.	0.196843	0.56097	D	0.000037	T	0.12561	0.0305	N	0.01705	-0.755	0.40988	D	0.984836	B	0.09022	0.002	B	0.04013	0.001	T	0.18461	-1.0336	10	0.02654	T	1	-15.2779	10.6272	0.45514	0.8476:0.0:0.0:0.1524	.	308	Q96CX6	LRC58_HUMAN	S	308	ENSP00000295628:C308S	ENSP00000295628:C308S	C	-	1	0	LRRC58	121532931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	2.130000	0.65690	0.533000	0.62120	TGC	LRRC58	-	NULL	ENSG00000163428		0.408	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	HGNC	protein_coding	OTTHUMT00000355142.1	-	0	35	0	A	XM_057296		120050241	-1	tier1	-	no_errors	ENST00000295628	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T	T	120050241	A	T	120050241	3	4	87	1	0	0	0	0	1	0	0	0	9049	188	7	5	197	5	LRRC58	3	120050241	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4655041	120050241	77972189	416	23540											
MYLK	4638	genome.wustl.edu	37	chr3	123419012	123419012	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaacatcttgcagcttctgCttgaaggctggggctgtccc	6	12	12	11	0	2	2	0	2	2	0	3	2	3	2	1	3	4	5	1	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:123419012C>T	ENST00000475616.1	-	15	3302	c.3303G>A	c.(3301-3303)aaG>aaA	p.K1101K	MYLK_ENST00000360304.3_Silent_p.K1101K|MYLK_ENST00000346322.5_Silent_p.K1032K|MYLK_ENST00000360772.3_Silent_p.K1101K|MYLK_ENST00000359169.1_Silent_p.K1101K|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	1101	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGCTTCTGCTTGAAGGCTG	0.537																																																	0													116	116	116					3																	123419012		2203	4300	6503	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3303G>A	3.37:g.123419012C>T			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K1101	ENST00000475616.1	37	c.3303	CCDS46896.1	3																																																																																			MYLK	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000065534		0.537	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0	35	0	C	NM_053025		123419012	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.929	T	T	123419012	C	T	123419012	2	4	87	1	0	0	0	0	0	0	0	1	10094	796	28	3		3	MYLK	3	123419012	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3368771	123419012	74603418	417	23541											
MYLK	4638	genome.wustl.edu	37	chr3	123451928	123451928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggaaccaggccactTcaggctttggaatcccggaa	10	8	10	13	1	1	0	1	0	0	0	3	3	3	3	4	5	1	1	4	5	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:123451928T>C	ENST00000475616.1	-	8	1330	c.1331A>G	c.(1330-1332)gAa>gGa	p.E444G	MYLK_ENST00000360304.3_Missense_Mutation_p.E444G|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360772.3_Missense_Mutation_p.E444G|MYLK_ENST00000359169.1_Missense_Mutation_p.E444G			Q15746	MYLK_HUMAN	myosin light chain kinase	444	Ig-like C2-type 3.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCAGGCCACTTCAGGCTTTGG	0.562																																																	0													44	41	42					3																	123451928		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1331A>G	3.37:g.123451928T>C	ENSP00000418335:p.Glu444Gly		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E444G	ENST00000475616.1	37	c.1331	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286705	0.40494	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000475616	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.42	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64724	0.2624	M	0.74467	2.265	0.09310	N	1	B;B;B	0.32918	0.185;0.338;0.39	B;B;B	0.34452	0.124;0.115;0.183	T	0.61232	-0.7104	9	0.54805	T	0.06	.	6.9139	0.24349	0.0:0.084:0.1627:0.7532	.	444;444;444	Q15746-6;Q15746-3;Q15746	.;.;MYLK_HUMAN	G	444	ENSP00000354004:E444G;ENSP00000353452:E444G;ENSP00000352088:E444G;ENSP00000418335:E444G	ENSP00000352088:E444G	E	-	2	0	MYLK	124934618	0.929000	0.31497	0.850000	0.33497	0.987000	0.75469	1.143000	0.31553	2.277000	0.76020	0.533000	0.62120	GAA	MYLK	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000065534		0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1		0	21	0	T	NM_053025		123451928	-1			no_errors	ENST00000360304	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.010	C	C	123451928	T	C	123451928	3	2	87	1	0	0	0	0	1	0	0	0	10094	1783	62	4	4509	4	MYLK	3	123451928	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	32916	123451928	74570502	418	23542											
MYLK	4638	genome.wustl.edu	37	chr3	123453042	123453042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcctgacatctgaattGgtggcttttgtttctctcac	5	19	7	10	0	4	2	1	2	3	0	6	2	5	2	1	2	0	2	1	2	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:123453042G>A	ENST00000475616.1	-	7	800	c.801C>T	c.(799-801)acC>acT	p.T267T	MYLK_ENST00000360304.3_Silent_p.T267T|MYLK_ENST00000346322.5_Silent_p.T267T|MYLK_ENST00000360772.3_Silent_p.T267T|MYLK_ENST00000359169.1_Silent_p.T267T			Q15746	MYLK_HUMAN	myosin light chain kinase	267					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATCTGAATTGGTGGCTTTTG	0.512																																																	0													89	84	85					3																	123453042		2203	4300	6503	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.801C>T	3.37:g.123453042G>A			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T267	ENST00000475616.1	37	c.801	CCDS46896.1	3																																																																																			MYLK	-	NULL	ENSG00000065534		0.512	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0	22	0	G	NM_053025		123453042	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.001	A	A	123453042	G	A	123453042	2	1	87	1	0	0	0	0	0	0	0	1	10094	1335	47	3		3	MYLK	3	123453042	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1114	123453042	74569388	419	23543											
KALRN	8997	genome.wustl.edu	37	chr3	124117635	124117635	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttgatgatgcccaggtgCagatggaggagctgttccac	9	9	14	9	0	0	3	0	2	0	1	1	5	1	5	2	3	4	4	2	3	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:124117635C>T	ENST00000240874.3	+	13	2414	c.2257C>T	c.(2257-2259)Cag>Tag	p.Q753*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.Q753*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.Q753*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	753					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCCCAGGTGCAGATGGAGGA	0.577																																																	0													110	92	98					3																	124117635		2203	4300	6503	SO:0001587	stop_gained	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.2257C>T	3.37:g.124117635C>T	ENSP00000240874:p.Gln753*		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.Q753*	ENST00000240874.3	37	c.2257	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.373769	0.98781	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	.	.	.	X	753	.	ENSP00000240874:Q753X	Q	+	1	0	KALRN	125600325	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.732000	0.93576	0.591000	0.81541	CAG	KALRN	-	smart_Spectrin/alpha-actinin	ENSG00000160145		0.577	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0	48	0	C	NM_003947		124117635	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	nonsense	14.00	43	7	SNP	1.000	T	T	124117635	C	T	124117635	4	4	87	1	0	0	0	0	0	1	0	0	8002	711	25	3	2307	3	KALRN	3	124117635	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	664593	124117635	73904795	420	23544											
ITGB5	3693	genome.wustl.edu	37	chr3	124567295	124567295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtttggtgcccaggctccGgatattgtccaagtcatcct	7	12	11	11	1	1	0	1	0	0	0	4	2	4	1	4	3	1	2	4	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:124567295G>A	ENST00000296181.4	-	4	768	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	158	VWFA.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCAGGCTCCGGATATTGTCC	0.532																																																	0													141	126	131					3																	124567295		2203	4300	6503	SO:0001583	missense	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.472C>T	3.37:g.124567295G>A	ENSP00000296181:p.Arg158Trp		B0LPF8|B2RD70	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu	p.R158W	ENST00000296181.4	37	c.472	CCDS3030.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.306027	0.95629	.	.	ENSG00000082781	ENST00000296181	D	0.97959	-4.63	5.42	5.42	0.78866	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.247276	0.42053	D	0.000780	D	0.98435	0.9479	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.68192	0.956	D	0.99395	1.0926	10	0.87932	D	0	.	19.3993	0.94621	0.0:0.0:1.0:0.0	.	158	P18084	ITB5_HUMAN	W	158	ENSP00000296181:R158W	ENSP00000296181:R158W	R	-	1	2	ITGB5	126049985	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	7.713000	0.84693	2.821000	0.97095	0.561000	0.74099	CGG	ITGB5	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,smart_VWF_A	ENSG00000082781		0.532	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	HGNC	protein_coding	OTTHUMT00000355286.3		0	38	0	G	NM_002213		124567295	-1			no_errors	ENST00000296181	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	124567295	G	A	124567295	3	1	87	1	0	0	0	0	1	0	0	0	7925	1115	39	1	1975	1	ITGB5	3	124567295	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	449660	124567295	73455135	421	23545											
KLF15	28999	genome.wustl.edu	37	chr3	126071448	126071448	+	Frame_Shift_Del	DEL	C	C	-																															gccgctgcccttcgccagggCccccaggccacggggccact																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126071448delC	ENST00000296233.3	-	2	548	c.318delG	c.(316-318)gggfs	p.G106fs	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	106					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TTCGCCAGGGCCCCCAGGCCA	0.657																																																	0													10	12	11					3																	126071448		2168	4262	6430	SO:0001589	frameshift_variant	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.318delG	3.37:g.126071448delC	ENSP00000296233:p.Gly106fs			Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.W108fs	ENST00000296233.3	37	c.318	CCDS3036.1	3																																																																																			KLF15	-	NULL	ENSG00000163884		0.657	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1		0	25	0	C	NM_014079		126071448	-1	tier1		no_errors	ENST00000296233	ensembl	human	known	74_37	frame_shift_del	28.57	10	4	DEL	0.677	-	-	126071448	C	-	126071448	7	5	87	1	0	1	0	1	0	0	0	0	8370	726	26	0	940	0	KLF15	3	126071448	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1504153	126071448	71950982	422	23546											
ZXDC	79364	genome.wustl.edu	37	chr3	126185160	126185160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacgagcggagaacctcgCgcaacatcctggaacaaaaa	15	4	10	12	4	0	1	0	0	0	1	2	4	1	2	2	2	5	2	2	2	6	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126185160C>T	ENST00000389709.3	-	5	1332	c.1279G>A	c.(1279-1281)Gcg>Acg	p.A427T	ZXDC_ENST00000336332.5_Missense_Mutation_p.A427T	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	427					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GAGAACCTCGCGCAACATCCT	0.502																																																	0													56	61	59					3																	126185160		2100	4237	6337	SO:0001583	missense	0			AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"Zinc fingers, C2H2-type"	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.1279G>A	3.37:g.126185160C>T	ENSP00000374359:p.Ala427Thr		C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A427T	ENST00000389709.3	37	c.1279	CCDS43145.1	3	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835059	0.71373	.	.	ENSG00000070476	ENST00000389709;ENST00000336332	T;T	0.51574	0.7;0.7	5.29	5.29	0.74685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	L	0.47016	1.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.64525	-0.6387	10	0.66056	D	0.02	-21.5159	16.7896	0.85584	0.0:1.0:0.0:0.0	.	427;427	Q2QGD7-2;Q2QGD7	.;ZXDC_HUMAN	T	427	ENSP00000374359:A427T;ENSP00000337694:A427T	ENSP00000337694:A427T	A	-	1	0	ZXDC	127667850	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	7.579000	0.82511	2.629000	0.89072	0.591000	0.81541	GCG	ZXDC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000070476		0.502	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZXDC	HGNC	protein_coding	OTTHUMT00000370327.2	-	0	49	0	C	NM_025112		126185160	-1	tier1	-	no_errors	ENST00000389709	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T	T	126185160	C	T	126185160	3	4	87	1	0	0	0	0	1	0	0	0	18300	768	27	1	1327	1	ZXDC	3	126185160	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	113712	126185160	71837270	423	23547											
PLXNA1	5361	genome.wustl.edu	37	chr3	126708216	126708216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtttgtctactacctcacGctgcagctagacacacagct	10	10	7	14	1	2	1	1	0	1	1	2	1	2	1	1	0	5	5	1	0	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126708216G>A	ENST00000393409.2	+	1	780	c.780G>A	c.(778-780)acG>acA	p.T260T	PLXNA1_ENST00000251772.4_Silent_p.T237T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	260	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTACCTCACGCTGCAGCTAG	0.562																																																	0													90	85	86					3																	126708216		2203	4300	6503	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.780G>A	3.37:g.126708216G>A				Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.T260	ENST00000393409.2	37	c.780	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000114554		0.562	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0	29	0	G	NM_032242		126708216	1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.030	A	A	126708216	G	A	126708216	2	1	87	1	0	0	0	0	0	0	0	1	12158	1074	38	1		1	PLXNA1	3	126708216	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	523056	126708216	71314214	424	23548											
PLXNA1	5361	genome.wustl.edu	37	chr3	126748821	126748821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggcacctggtgaagAaccacgaccacctggaccag	11	5	12	13	1	0	2	0	1	0	1	0	4	0	3	5	3	2	2	5	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:126748821A>G	ENST00000393409.2	+	27	4975	c.4975A>G	c.(4975-4977)Aac>Gac	p.N1659D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.N1636D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1659					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGGTGAAGAACCACGACCA	0.667																																																	0													99	97	98					3																	126748821		2203	4300	6503	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4975A>G	3.37:g.126748821A>G	ENSP00000377061:p.Asn1659Asp			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.N1659D	ENST00000393409.2	37	c.4975	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	A	18.50	3.637329	0.67130	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11385	2.78;2.78	3.71	3.71	0.42584	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.29524	0.0736	M	0.70275	2.135	0.54753	D	0.999983	D;D	0.89917	0.991;1.0	D;D	0.97110	0.966;1.0	T	0.02365	-1.1170	10	0.37606	T	0.19	.	12.8438	0.57819	1.0:0.0:0.0:0.0	.	273;1659	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	D	1659;1636	ENSP00000377061:N1659D;ENSP00000251772:N1636D	ENSP00000251772:N1636D	N	+	1	0	PLXNA1	128231511	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	9.059000	0.93902	1.682000	0.51000	0.260000	0.18958	AAC	PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000114554		0.667	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1		0	47	0	A	NM_032242		126748821	1			no_errors	ENST00000393409	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	G	G	126748821	A	G	126748821	3	3	87	1	0	0	0	0	1	0	0	0	12158	246	9	4	5081	4	PLXNA1	3	126748821	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	40605	126748821	71273609	425	23549											
SEC61A1	29927	genome.wustl.edu	37	chr3	127774388	127774388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaaagtgctgtggacCgctatcaccctctttatctt	10	12	9	10	1	3	1	1	0	2	1	3	3	3	2	2	2	1	2	2	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:127774388C>T	ENST00000243253.3	+	3	289	c.105C>T	c.(103-105)acC>acT	p.T35T	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Silent_p.T41T	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	35					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TGCTGTGGACCGCTATCACCC	0.433																																																	0													173	166	168					3																	127774388		2203	4300	6503	SO:0001819	synonymous_variant	0			AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.105C>T	3.37:g.127774388C>T			P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	p.T35	ENST00000243253.3	37	c.105	CCDS3046.1	3																																																																																			SEC61A1	-	superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha	ENSG00000058262		0.433	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A1	HGNC	protein_coding	OTTHUMT00000356541.2	-	0	78	0	C	NM_013336		127774388	1	tier1	-	no_errors	ENST00000243253	ensembl	human	known	74_37	silent	9.52	76	8	SNP	0.169	T	T	127774388	C	T	127774388	2	4	87	1	0	0	0	0	0	0	0	1	14045	639	23	1		1	SEC61A1	3	127774388	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1025567	127774388	70248042	426	23550											
RPN1	6184	genome.wustl.edu	37	chr3	128348877	128348877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccaaagagagggaagcgaGgccggatttccatctctaca	12	6	12	11	3	1	1	0	0	1	1	3	5	2	3	3	3	2	0	3	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:128348877G>T	ENST00000296255.3	-	5	1001	c.953C>A	c.(952-954)cCt>cAt	p.P318H	RPN1_ENST00000497289.1_Missense_Mutation_p.P146H|RPN1_ENST00000490166.1_5'Flank	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	318					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGGGAAGCGAGGCCGGATTTC	0.483			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													88	84	86					3																	128348877		2203	4300	6503	SO:0001583	missense	0				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"oligosaccharyltransferase 1 homolog (S. cerevisiae)", "oligosaccharyltransferase complex subunit (non-catalytic)"	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.953C>A	3.37:g.128348877G>T	ENSP00000296255:p.Pro318His		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.P318H	ENST00000296255.3	37	c.953	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985749	0.93044	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90352	0.4367	9	0.87932	D	0	-13.2282	19.0082	0.92861	0.0:0.0:1.0:0.0	.	318	P04843	RPN1_HUMAN	H	318;146;89;292	.	ENSP00000296255:P318H	P	-	2	0	RPN1	129831567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.338000	0.96553	2.487000	0.83934	0.591000	0.81541	CCT	RPN1	-	pfam_Ribophorin_I	ENSG00000163902		0.483	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	-	0	67	0	G	NM_002950		128348877	-1	tier1	-	no_errors	ENST00000296255	ensembl	human	known	74_37	missense	15.25	50	9	SNP	1.000	T	T	128348877	G	T	128348877	3	4	87	1	0	0	0	0	1	0	0	0	13652	1000	35	3	894	3	RPN1	3	128348877	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	574489	128348877	69673553	427	23551											
ACAD11	84129	genome.wustl.edu	37	chr3	132363673	132363674	+	Frame_Shift_Ins	INS	-	-	T																															ggaagaagtgaacctggtggINSttttttcctgagcacatatg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:132363673_132363674insT	ENST00000264990.6	-	2	1187_1188	c.216_217insA	c.(214-219)aaaccafs	p.P73fs	ACAD11_ENST00000481970.2_Frame_Shift_Ins_p.P73fs|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000355458.3_Frame_Shift_Ins_p.P73fs	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	73					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GAACCTGGTGGTTTTTTCCTGA	0.337																																																	0																																										SO:0001589	frameshift_variant	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.217dupA	3.37:g.132363679_132363679dupT	ENSP00000264990:p.Pro73fs		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Frame_Shift_Ins	INS	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.P72fs	ENST00000264990.6	37	c.217_216	CCDS3074.1	3																																																																																			ACAD11	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000240303		0.337	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2		0	118	0	0	NM_032169		132363674	-1			no_errors	ENST00000264990	ensembl	human	known	74_37	frame_shift_ins	9.32	107	11	INS	1.000:0.997	T	T	132363674	-	T	132363673	7	5	87	1	0	1	1	0	0	0	0	0	109	1261	44	0	2201	0	ACAD11	3	132363673	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	4014796	132363673	65658757	428	23552											
TOPBP1	11073	genome.wustl.edu	37	chr3	133331322	133331322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgaggctaaatacttctCgtttcgaagtggatgtccca	10	12	9	10	2	1	1	0	1	1	0	4	3	2	2	1	2	1	2	1	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:133331322C>T	ENST00000260810.5	-	24	4077	c.3946G>A	c.(3946-3948)Gag>Aag	p.E1316K		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1316	BRCT 7. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAATACTTCTCGTTTCGAAGT	0.483								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													77	80	79					3																	133331322		1998	4183	6181	SO:0001583	missense	0			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.3946G>A	3.37:g.133331322C>T	ENSP00000260810:p.Glu1316Lys		B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.E1316K	ENST00000260810.5	37	c.3946	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.501117	0.96371	.	.	ENSG00000163781	ENST00000260810	T	0.58060	0.36	5.48	5.48	0.80851	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.78502	0.4293	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.82446	-0.0453	10	0.62326	D	0.03	.	19.3587	0.94425	0.0:1.0:0.0:0.0	.	1316	Q92547	TOPB1_HUMAN	K	1316	ENSP00000260810:E1316K	ENSP00000260810:E1316K	E	-	1	0	TOPBP1	134814012	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.811000	0.86092	2.573000	0.86826	0.655000	0.94253	GAG	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000163781		0.483	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	-	0	23	0	C	NM_007027		133331322	-1	tier1	-	no_errors	ENST00000260810	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T	T	133331322	C	T	133331322	3	4	87	1	0	0	0	0	1	0	0	0	16417	893	31	1	642	1	TOPBP1	3	133331322	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	967649	133331322	64691108	429	23553											
SLCO2A1	6578	genome.wustl.edu	37	chr3	133666102	133666103	+	Frame_Shift_Ins	INS	-	-	G																															ccccttattcccattacctaINSggggggtagacttcggccac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:133666102_133666103insG	ENST00000310926.4	-	9	1565_1566	c.1292_1293insC	c.(1291-1293)cctfs	p.P431fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.P355fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	431					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CCCATTACCTAGGGGGGTAGAC	0.485																																																	0																																										SO:0001589	frameshift_variant	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"Solute carriers"	10955	protein-coding gene	gene with protein product		601460	"solute carrier family 21 (prostaglandin transporter), member 2", "matrin F/G 1"	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1293dupC	3.37:g.133666108_133666108dupG	ENSP00000311291:p.Pro431fs		Q86V98|Q8IUN2	Frame_Shift_Ins	INS	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S432fs	ENST00000310926.4	37	c.1293_1292	CCDS3084.1	3																																																																																			SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.485	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1		0	33	0	-	NM_005630		133666103	-1	tier1		no_errors	ENST00000310926	ensembl	human	known	74_37	frame_shift_ins	11.90	37	5	INS	0.371:0.000	G	G	133666103	-	G	133666102	7	5	87	1	0	1	1	0	0	0	0	0	14771	407	15	0	662	0	SLCO2A1	3	133666102	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	334780	133666102	64356328	430	23554											
EPHB1	2047	genome.wustl.edu	37	chr3	134670233	134670233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaagaagtcagtggctaCgatgaaaacctgaacaccat	15	7	11	8	1	1	3	1	2	0	1	1	5	1	4	2	2	3	1	2	2	6	1	rs371726436		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:134670233C>T	ENST00000398015.3	+	3	514	c.144C>T	c.(142-144)taC>taT	p.Y48Y	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	48	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Y48Y(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGTGGCTACGATGAAAACC	0.502																																																	2	Substitution - coding silent(2)	large_intestine(2)						C		0,4318		0,0,2159	36	40	39		144	-7.7	0.6	3		39	1,8559		0,1,4279	no	coding-synonymous	EPHB1	NM_004441.4		0,1,6438	TT,TC,CC		0.0117,0.0,0.0078		48/985	134670233	1,12877	2159	4280	6439	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.144C>T	3.37:g.134670233C>T			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y48	ENST00000398015.3	37	c.144	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.502	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	64	0	C	NM_004441		134670233	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	27.66	34	13	SNP	0.172	T	T	134670233	C	T	134670233	2	4	87	1	0	0	0	0	0	0	0	1	5190	547	19	1		1	EPHB1	3	134670233	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1004131	134670233	63352197	431	23555											
EPHB1	2047	genome.wustl.edu	37	chr3	134670376	134670376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcttcactgtgagagactGcagcagcctccctaatgtcc	8	9	10	14	1	1	2	1	1	0	1	3	3	3	2	3	0	3	3	3	0	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:134670376G>A	ENST00000398015.3	+	3	657	c.287G>A	c.(286-288)tGc>tAc	p.C96Y	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	96	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTGAGAGACTGCAGCAGCCTC	0.537																																																	0													41	42	42					3																	134670376		2051	4226	6277	SO:0001583	missense	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.287G>A	3.37:g.134670376G>A	ENSP00000381097:p.Cys96Tyr		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.C96Y	ENST00000398015.3	37	c.287	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325251	0.81580	.	.	ENSG00000154928	ENST00000460895;ENST00000398015;ENST00000473867;ENST00000474732	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.69	5.69	0.88448	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.84497	0.5485	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.87168	0.2219	10	0.72032	D	0.01	.	19.8275	0.96624	0.0:0.0:1.0:0.0	.	96;96	B5A969;P54762	.;EPHB1_HUMAN	Y	74;96;74;74	ENSP00000417435:C74Y;ENSP00000381097:C96Y;ENSP00000417216:C74Y;ENSP00000418352:C74Y	ENSP00000381097:C96Y	C	+	2	0	EPHB1	136153066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.684000	0.91462	0.650000	0.86243	TGC	EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000154928		0.537	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	51	0	G	NM_004441		134670376	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	missense	19.15	38	9	SNP	1.000	A	A	134670376	G	A	134670376	3	1	87	1	0	0	0	0	1	0	0	0	5190	1319	46	3	297	3	EPHB1	3	134670376	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	143	134670376	63352054	432	23556											
SOX14	8403	genome.wustl.edu	37	chr3	137483819	137483819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgaagccaagcggctaCgcgcccagcacatgaaggag	12	4	13	12	4	0	2	0	2	0	0	1	4	0	3	2	2	4	2	2	2	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:137483819C>T	ENST00000306087.1	+	1	241	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	65					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						CAAGCGGCTACGCGCCCAGCA	0.567																																																	0													139	138	139					3																	137483819		2203	4300	6503	SO:0001583	missense	0			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"SRY (sex determining region Y)-boxes"	11193	protein-coding gene	gene with protein product	"HMG box transcription factor SOX-14", "SRY-box 14"	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.193C>T	3.37:g.137483819C>T	ENSP00000305343:p.Arg65Cys		B2RAC0|Q3KPH7	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R65C	ENST00000306087.1	37	c.193	CCDS3094.1	3	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384920	0.61956	.	.	ENSG00000168875	ENST00000306087	D	0.98329	-4.87	5.08	5.08	0.68730	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	D	0.99302	0.9756	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98581	1.0650	10	0.87932	D	0	.	13.2711	0.60161	0.1586:0.8414:0.0:0.0	.	65	O95416	SOX14_HUMAN	C	65	ENSP00000305343:R65C	ENSP00000305343:R65C	R	+	1	0	SOX14	138966509	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	2.226000	0.42963	2.653000	0.90120	0.511000	0.50034	CGC	SOX14	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000168875		0.567	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX14	HGNC	protein_coding	OTTHUMT00000357182.1	-	0	75	0	C	NM_004189		137483819	1	tier1	-	no_errors	ENST00000306087	ensembl	human	known	74_37	missense	12.33	64	9	SNP	1.000	T	T	137483819	C	T	137483819	3	4	87	1	0	0	0	0	1	0	0	0	14990	536	19	1	195	1	SOX14	3	137483819	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2813443	137483819	60538611	433	23557											
TFDP2	7029	genome.wustl.edu	37	chr3	141697454	141697454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgtaccttttcgttgaaCtttctcacacactttcattg	7	19	5	10	1	2	1	2	1	1	0	4	1	2	1	1	0	2	3	1	0	2	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:141697454C>T	ENST00000489671.1	-	7	857	c.427G>A	c.(427-429)Gtt>Att	p.V143I	TFDP2_ENST00000317104.7_Missense_Mutation_p.V66I|TFDP2_ENST00000477292.1_Missense_Mutation_p.V7I|TFDP2_ENST00000499676.2_Missense_Mutation_p.V82I|TFDP2_ENST00000397991.4_Missense_Mutation_p.V115I|TFDP2_ENST00000464782.1_5'UTR|TFDP2_ENST00000479040.1_Missense_Mutation_p.V82I|TFDP2_ENST00000486111.1_Missense_Mutation_p.V82I|TFDP2_ENST00000310282.6_Missense_Mutation_p.V82I|TFDP2_ENST00000467072.1_Missense_Mutation_p.V82I|TFDP2_ENST00000495310.1_Missense_Mutation_p.V46I			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	143					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						TTTCGTTGAACTTTCTCACAC	0.373																																																	0													171	163	166					3																	141697454		1966	4150	6116	SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.427G>A	3.37:g.141697454C>T	ENSP00000420616:p.Val143Ile		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.V143I	ENST00000489671.1	37	c.427	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268395	0.80469	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579;ENST00000488107	T;T;T;T;T;T;T;T;T;T;T;T;T	0.62498	1.01;0.93;1.01;0.11;0.02;1.01;1.03;1.01;1.0;0.94;0.81;0.82;0.4	5.52	5.52	0.82312	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.75459	0.3852	M	0.83852	2.665	0.80722	D	1	B;B;B	0.32604	0.377;0.025;0.006	B;B;B	0.43575	0.424;0.077;0.009	T	0.77566	-0.2540	10	0.87932	D	0	-7.5173	19.4699	0.94959	0.0:1.0:0.0:0.0	.	46;143;82	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	I	82;143;82;7;46;82;66;82;82;115;82;56;82;82	ENSP00000439782:V82I;ENSP00000420616:V143I;ENSP00000420599:V82I;ENSP00000418971:V7I;ENSP00000419036:V46I;ENSP00000418590:V82I;ENSP00000315668:V66I;ENSP00000309622:V82I;ENSP00000417585:V82I;ENSP00000381078:V115I;ENSP00000417726:V82I;ENSP00000417220:V82I;ENSP00000420456:V82I	ENSP00000309622:V82I	V	-	1	0	TFDP2	143180144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.591000	0.87537	0.650000	0.86243	GTT	TFDP2	-	pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	ENSG00000114126		0.373	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	-	0	71	0	C	NM_006286		141697454	-1	tier1	-	no_errors	ENST00000489671	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	T	T	141697454	C	T	141697454	3	4	87	1	0	0	0	0	1	0	0	0	15845	565	20	3	944	3	TFDP2	3	141697454	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4213635	141697454	56324976	434	23558											
PAQR9	344838	genome.wustl.edu	37	chr3	142681484	142681484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaggtacaccagtcggtaCggctcttgcagcaggccaca	9	7	13	12	2	1	0	0	0	1	0	2	0	1	0	2	5	4	6	2	5	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:142681484C>T	ENST00000340634.3	-	1	694	c.695G>A	c.(694-696)cGt>cAt	p.R232H	RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	232						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CCAGTCGGTACGGCTCTTGCA	0.652																																																	0													59	55	56					3																	142681484		2203	4300	6503	SO:0001583	missense	0			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.695G>A	3.37:g.142681484C>T	ENSP00000341564:p.Arg232His		Q147T6	Missense_Mutation	SNP	pfam_HlyIII-related	p.R232H	ENST00000340634.3	37	c.695	CCDS3128.1	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027490	0.93518	.	.	ENSG00000188582	ENST00000340634	T	0.33216	1.42	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.59622	0.2207	M	0.79926	2.475	0.52501	D	0.999953	D	0.76494	0.999	D	0.72982	0.979	T	0.62034	-0.6939	10	0.51188	T	0.08	-37.0511	19.1774	0.93607	0.0:1.0:0.0:0.0	.	232	Q6ZVX9	PAQR9_HUMAN	H	232	ENSP00000341564:R232H	ENSP00000341564:R232H	R	-	2	0	PAQR9	144164174	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.550000	0.67268	2.595000	0.87683	0.655000	0.94253	CGT	PAQR9	-	pfam_HlyIII-related	ENSG00000188582		0.652	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR9	HGNC	protein_coding	OTTHUMT00000354538.1	-	0	39	0	C	NM_198504		142681484	-1	tier1	-	no_errors	ENST00000340634	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	T	T	142681484	C	T	142681484	3	4	87	1	0	0	0	0	1	0	0	0	11481	536	19	1	442	1	PAQR9	3	142681484	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	984030	142681484	55340946	435	23559											
SLC9A9	285195	genome.wustl.edu	37	chr3	143513850	143513850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcacttaccctatgaCgatgcaggagatggcagttc	11	10	11	9	1	1	2	1	1	0	1	2	5	1	2	1	2	2	3	1	2	3	3	rs375659735		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:143513850C>T	ENST00000316549.6	-	4	734	c.526G>A	c.(526-528)Gtc>Atc	p.V176I		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	176					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TACCCTATGACGATGCAGGAG	0.443																																																	0								C	ILE/VAL	0,4406		0,0,2203	112	106	108		526	4.3	0.8	3		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A9	NM_173653.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	176/646	143513850	1,13005	2203	4300	6503	SO:0001583	missense	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"Solute carriers"	20653	protein-coding gene	gene with protein product		608396	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 9", "solute carrier family 9 (sodium/hydrogen exchanger), member 9"			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.526G>A	3.37:g.143513850C>T	ENSP00000320246:p.Val176Ile		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.V176I	ENST00000316549.6	37	c.526	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169910	0.38315	0.0	1.16E-4	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.15603	2.41	6.07	4.26	0.50523	Cation/H+ exchanger (1);	0.269957	0.31199	N	0.008079	T	0.10551	0.0258	N	0.17800	0.525	0.38705	D	0.953073	B	0.25486	0.127	B	0.20577	0.03	T	0.18967	-1.0320	10	0.23302	T	0.38	.	10.8841	0.46957	0.0:0.7972:0.1317:0.0711	.	176	Q8IVB4	SL9A9_HUMAN	I	176;59	ENSP00000320246:V176I	ENSP00000320246:V176I	V	-	1	0	SLC9A9	144996540	0.944000	0.32072	0.793000	0.32043	0.945000	0.59286	1.129000	0.31381	0.873000	0.35799	0.650000	0.86243	GTC	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000181804		0.443	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	-	0	61	0	C	NM_173653		143513850	-1	tier1	-	no_errors	ENST00000316549	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.989	T	T	143513850	C	T	143513850	3	4	87	1	0	0	0	0	1	0	0	0	14766	536	19	1	1463	1	SLC9A9	3	143513850	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	832366	143513850	54508580	436	23560											
MED12L	116931	genome.wustl.edu	37	chr3	151095801	151095801	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtttctgattttagtTcctccgaacgcaggggtgta	7	14	10	10	2	1	1	0	1	1	0	3	2	3	1	3	2	1	4	3	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:151095801T>A	ENST00000474524.1	+	29	4251	c.4213T>A	c.(4213-4215)Tcc>Acc	p.S1405T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Splice_Site_p.S1265T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1405						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATTTTAGTTCCTCCGAACG	0.507																																																	0													87	85	85					3																	151095801		2203	4300	6503	SO:0001630	splice_region_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4212-1T>A	3.37:g.151095801T>A			Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.S1405T	ENST00000474524.1	37	c.4213	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	22.2	4.252329	0.80135	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.64085	-0.08;-0.08	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.61703	1.905	0.80722	D	1	D;D;P	0.61697	0.99;0.974;0.956	D;D;D	0.67725	0.946;0.953;0.931	T	0.78679	-0.2110	10	0.87932	D	0	-20.0134	14.8925	0.70620	0.0:0.0:0.0:1.0	.	1265;1404;1405	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	T	1405;1265	ENSP00000417235:S1405T;ENSP00000273432:S1265T	ENSP00000273432:S1265T	S	+	1	0	MED12L	152578491	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.351000	0.79395	1.999000	0.58509	0.533000	0.62120	TCC	MED12L	-	NULL	ENSG00000144893		0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0	51	0	T	NM_053002	Missense_Mutation	151095801	1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A	A	151095801	T	A	151095801	5	1	87	1	0	0	0	0	0	0	1	0	9467	1797	62	5	4327	5	MED12L	3	151095801	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	7581951	151095801	46926629	437	23561											
IGSF10	285313	genome.wustl.edu	37	chr3	151155309	151155310	+	Frame_Shift_Ins	INS	-	-	T																															ctttcccagctgggcaactaINSttttttcattaaatggattt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:151155309_151155310insT	ENST00000282466.3	-	6	7038_7039	c.7039_7040insA	c.(7039-7041)atafs	p.I2347fs	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2347	Ig-like C2-type 10.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGGGCAACTATTTTTTCATTA	0.426																																																	0																																										SO:0001589	frameshift_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"Immunoglobulin superfamily / I-set domain containing"	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.7040dupA	3.37:g.151155315_151155315dupT	ENSP00000282466:p.Ile2347fs		Q86YJ9|Q8N772|Q8NA84	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I2347fs	ENST00000282466.3	37	c.7040_7039	CCDS3160.1	3																																																																																			IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000152580		0.426	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1		0	9	0	-	NM_178822		151155310	-1	tier1		no_errors	ENST00000282466	ensembl	human	known	74_37	frame_shift_ins	25.00	15	5	INS	0.004:0.002	T	T	151155310	-	T	151155309	7	5	87	1	0	1	1	0	0	0	0	0	7624	449	16	0	835	0	IGSF10	3	151155309	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	59508	151155309	46867121	438	23562											
SGEF	26084	genome.wustl.edu	37	chr3	153840548	153840548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcattccgaagagtctggCctcggaaattaaaataagta	15	10	9	7	2	2	1	1	0	1	1	4	4	3	2	2	2	0	1	2	2	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:153840548C>T	ENST00000356448.4	+	2	1051	c.767C>T	c.(766-768)gCc>gTc	p.A256V	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.A256V|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.A256V|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	256					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAGAGTCTGGCCTCGGAAATT	0.532																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0													16	19	18					3																	153840548		1854	4096	5950	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.767C>T	3.37:g.153840548C>T	ENSP00000348828:p.Ala256Val		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A256V	ENST00000356448.4	37	c.767	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579173	0.86645	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.75154	-0.91;-0.91;0.52	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.83622	0.5294	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.85154	0.0988	10	0.72032	D	0.01	-18.6306	18.3168	0.90224	0.0:1.0:0.0:0.0	.	256;256	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	V	256	ENSP00000348828:A256V;ENSP00000423418:A256V;ENSP00000423295:A256V	ENSP00000348828:A256V	A	+	2	0	ARHGEF26	155323238	1.000000	0.71417	0.998000	0.56505	0.568000	0.35870	3.896000	0.56266	2.403000	0.81681	0.655000	0.94253	GCC	ARHGEF26	-	NULL	ENSG00000114790		0.532	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	-	0	96	0	C	NM_015595		153840548	1	tier1	-	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	26.51	61	22	SNP	1.000	T	T	153840548	C	T	153840548	3	4	87	1	0	0	0	0	1	0	0	0	14250	739	26	3	769	3	SGEF	3	153840548	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2685239	153840548	44181882	439	23563											
SGEF	26084	genome.wustl.edu	37	chr3	153935686	153935686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatgcaatgagggcgcccGgaagatggaaaggactgaga	14	5	15	7	2	0	3	0	2	0	2	0	7	0	6	1	4	1	1	1	4	4	1	rs374617836		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:153935686G>A	ENST00000356448.4	+	10	2158	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.R625Q|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	625					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GAGGGCGCCCGGAAGATGGAA	0.428																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0								G	GLN/ARG	1,3717		0,1,1858	94	89	91		1874	5.1	1	3		91	2,8206		0,2,4102	no	missense	ARHGEF26	NM_015595.3	43	0,3,5960	AA,AG,GG		0.0244,0.0269,0.0252	probably-damaging	625/872	153935686	3,11923	1859	4104	5963	SO:0001583	missense	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	24490	protein-coding gene	gene with protein product	"Src homology 3 domain-containing guanine nucleotide exchange factor"					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1874G>A	3.37:g.153935686G>A	ENSP00000348828:p.Arg625Gln		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R625Q	ENST00000356448.4	37	c.1874	CCDS46938.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.341361	0.95783	2.69E-4	2.44E-4	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.34859	1.34;1.34	5.05	5.05	0.67936	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.46741	1.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.38802	-0.9644	10	0.21540	T	0.41	-22.7406	18.7816	0.91934	0.0:0.0:1.0:0.0	.	625;625	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	Q	625	ENSP00000348828:R625Q;ENSP00000423418:R625Q	ENSP00000348828:R625Q	R	+	2	0	ARHGEF26	155418376	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.218000	0.77991	2.504000	0.84457	0.655000	0.94253	CGG	ARHGEF26	-	superfamily_DH-domain	ENSG00000114790		0.428	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3	-	0	104	0	G	NM_015595		153935686	1	tier1	-	no_errors	ENST00000356448	ensembl	human	known	74_37	missense	14.53	100	17	SNP	1.000	A	A	153935686	G	A	153935686	3	1	87	1	0	0	0	0	1	0	0	0	14250	1116	39	1	1908	1	SGEF	3	153935686	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	95138	153935686	44086744	440	23564											
GMPS	8833	genome.wustl.edu	37	chr3	155655421	155655421	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagattaagaagattcctggTatttctcgaattatgtatga	13	15	9	4	1	1	4	0	1	1	3	3	6	2	4	1	1	0	2	1	1	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:155655421T>C	ENST00000496455.2	+	16	2357	c.2022T>C	c.(2020-2022)ggT>ggC	p.G674G	GMPS_ENST00000295920.7_Silent_p.G575G	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	674					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AGATTCCTGGTATTTCTCGAA	0.368			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													73	70	71					3																	155655421		1805	4066	5871	SO:0001819	synonymous_variant	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.2022T>C	3.37:g.155655421T>C			A8K639|B4DXV7|F8W720	Silent	SNP	pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.G674	ENST00000496455.2	37	c.2022	CCDS46941.1	3																																																																																			GMPS	-	pfam_GMP_synth_C	ENSG00000163655		0.368	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2		0	70	0	T			155655421	1			no_errors	ENST00000496455	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.994	C	C	155655421	T	C	155655421	2	2	87	1	0	0	0	0	0	0	0	1	6524	1625	57	4		4	GMPS	3	155655421	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1719735	155655421	42367009	441	23565											
SMC4	10051	genome.wustl.edu	37	chr3	160134136	160134136	+	Frame_Shift_Del	DEL	A	A	-																															gaaggaaaaagagaaagaagAaaaaaaattaaaggaagtta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:160134136delA	ENST00000357388.3	+	10	1821	c.1370delA	c.(1369-1371)gaafs	p.E457fs	SMC4_ENST00000360111.2_Frame_Shift_Del_p.E457fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.E457fs|SMC4_ENST00000469762.1_Frame_Shift_Del_p.E432fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Frame_Shift_Del_p.E457fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	457					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAGAAAGAAGAAAAAAAATTA	0.308																																																	0													53	62	59					3																	160134136		2202	4290	6492	SO:0001589	frameshift_variant	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"Structural maintenance of chromosomes proteins"	14013	protein-coding gene	gene with protein product		605575	"SMC4 (structural maintenance of chromosomes 4, yeast)-like 1", "SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1370delA	3.37:g.160134136delA	ENSP00000349961:p.Glu457fs		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Frame_Shift_Del	DEL	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.K459fs	ENST00000357388.3	37	c.1370	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000113810		0.308	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1		0	37	0	A			160134136	1	tier1		no_errors	ENST00000344722	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000	-	-	160134136	A	-	160134136	7	5	87	1	0	1	0	1	0	0	0	0	14830	246	9	0	1404	0	SMC4	3	160134136	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	4478715	160134136	37888294	442	23566											
SLITRK3	22865	genome.wustl.edu	37	chr3	164908289	164908289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtcctgcaatgcattGttcccaagattaatagacac	13	12	7	9	0	0	3	0	1	0	2	2	3	2	3	2	0	2	3	2	0	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:164908289G>T	ENST00000475390.1	-	2	773	c.330C>A	c.(328-330)aaC>aaA	p.N110K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.N110K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	110					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCAATGCATTGTTCCCAAGAT	0.333										HNSCC(40;0.11)																																							0													50	51	51					3																	164908289		2202	4299	6501	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.330C>A	3.37:g.164908289G>T	ENSP00000420091:p.Asn110Lys		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N110K	ENST00000475390.1	37	c.330	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514217	0.44763	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;T	0.58797	0.31;0.31;0.31	5.99	5.99	0.97316	.	0.000000	0.41396	D	0.000900	T	0.78947	0.4364	M	0.81942	2.565	0.43971	D	0.996656	D	0.63880	0.993	D	0.72982	0.979	T	0.78448	-0.2200	10	0.54805	T	0.06	-21.1334	20.4756	0.99175	0.0:0.0:1.0:0.0	.	110	O94933	SLIK3_HUMAN	K	110	ENSP00000420091:N110K;ENSP00000241274:N110K;ENSP00000419611:N110K	ENSP00000241274:N110K	N	-	3	2	SLITRK3	166390983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.932000	0.56537	2.847000	0.97988	0.655000	0.94253	AAC	SLITRK3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000121871		0.333	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1		0	45	0	G	NM_014926		164908289	-1			no_errors	ENST00000241274	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	164908289	G	T	164908289	3	4	87	1	0	0	0	0	1	0	0	0	14789	1368	48	3	2607	3	SLITRK3	3	164908289	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4774153	164908289	33114141	443	23567											
BCHE	590	genome.wustl.edu	37	chr3	165547794	165547795	+	Frame_Shift_Ins	INS	-	-	T																															aacacccaccaaaatctgggINStttttttaaattgtccaagt																								rs537434945		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:165547794_165547795insT	ENST00000264381.3	-	2	1193_1194	c.1027_1028insA	c.(1027-1029)accfs	p.T343fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	343					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CAAAATCTGGGTTTTTTTAAAT	0.386																																																	0			GRCh37	CI951904|CM025285	BCHE	I|M				1,4241		0,1,2120						5.6	1			27	2,8202		0,2,4100	no	frameshift	BCHE	NM_000055.2		0,3,6220	A1A1,A1R,RR		0.0244,0.0236,0.0241				3,12443				SO:0001589	frameshift_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1028dupA	3.37:g.165547801_165547801dupT	ENSP00000264381:p.Thr343fs		A8K7P8	Frame_Shift_Ins	INS	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.T343fs	ENST00000264381.3	37	c.1028_1027	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.386	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0	72	0	-			165547795	-1	tier1		no_errors	ENST00000264381	ensembl	human	known	74_37	frame_shift_ins	11.43	62	8	INS	0.996:0.991	T	T	165547795	-	T	165547794	7	5	87	1	0	1	1	0	0	0	0	0	1359	1261	44	0	792	0	BCHE	3	165547794	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	639505	165547794	32474636	444	23568											
PDCD10	11235	genome.wustl.edu	37	chr3	167437900	167437900	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcatagaaaccatggAtgtggtctcagcttcattct	10	11	12	8	0	3	1	2	0	2	1	4	3	3	2	1	4	2	2	1	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:167437900A>T	ENST00000392750.2	-	3	463	c.46T>A	c.(46-48)Tcc>Acc	p.S16T	PDCD10_ENST00000470131.1_Missense_Mutation_p.S16T|PDCD10_ENST00000461494.1_Missense_Mutation_p.S16T|PDCD10_ENST00000471885.1_Missense_Mutation_p.S16T|PDCD10_ENST00000487947.2_Missense_Mutation_p.S16T|PDCD10_ENST00000497056.2_Missense_Mutation_p.S16T|PDCD10_ENST00000473645.2_Missense_Mutation_p.S16T|PDCD10_ENST00000487678.1_5'Flank|PDCD10_ENST00000492396.1_Intron	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	16					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						GAAACCATGGATGTGGTCTCA	0.398																																																	0													265	249	254					3																	167437900		2203	4300	6503	SO:0001583	missense	0			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"cerebral cavernous malformations 3"	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.46T>A	3.37:g.167437900A>T	ENSP00000376506:p.Ser16Thr		A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.S16T	ENST00000392750.2	37	c.46	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377955	0.24944	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725;ENST00000492139;ENST00000464360	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.30854	0.0778	N	0.20986	0.625	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.08827	-1.0703	10	0.22109	T	0.4	-2.5826	15.3933	0.74767	1.0:0.0:0.0:0.0	.	16	Q9BUL8	PDC10_HUMAN	T	16	ENSP00000376506:S16T;ENSP00000418317:S16T;ENSP00000420553:S16T;ENSP00000420021:S16T;ENSP00000417202:S16T;ENSP00000417118:S16T;ENSP00000420266:S16T;ENSP00000417876:S16T;ENSP00000420424:S16T;ENSP00000420014:S16T;ENSP00000418160:S16T	ENSP00000376506:S16T	S	-	1	0	PDCD10	168920594	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.916000	0.92745	2.371000	0.80710	0.533000	0.62120	TCC	PDCD10	-	pfam_DUF1241	ENSG00000114209		0.398	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	-	0	87	0	A	NM_007217		167437900	-1	tier1	-	no_errors	ENST00000392750	ensembl	human	known	74_37	missense	26.23	45	16	SNP	1.000	T	T	167437900	A	T	167437900	3	4	87	1	0	0	0	0	1	0	0	0	11655	333	12	5	620	5	PDCD10	3	167437900	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1890106	167437900	30584530	445	23569											
TBL1XR1	79718	genome.wustl.edu	37	chr3	176743311	176743311	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgaaggtctaatacacaaAcctgtaagaaattaaaataa	20	9	5	7	1	1	1	0	0	1	1	2	2	2	1	2	1	2	1	2	1	9	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:176743311A>C	ENST00000430069.1	-	16	1779	c.1520T>G	c.(1519-1521)gTt>gGt	p.V507G	TBL1XR1_ENST00000457928.2_Splice_Site_p.V507G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	507					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TAATACACAAACCTGTAAGAA	0.343																																																	0													66	61	63					3																	176743311		1824	4079	5903	SO:0001630	splice_region_variant	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"WD repeat domain containing"	29529	protein-coding gene	gene with protein product		608628	"transducin (beta)-like 1X-linked receptor 1"			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1519-1T>G	3.37:g.176743311A>C			D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V507G	ENST00000430069.1	37	c.1520	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	A	16.21	3.060088	0.55432	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	D;D	0.84944	-1.92;-1.92	5.62	5.62	0.85841	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	D	0.92993	0.7770	M	0.86420	2.815	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.94094	0.7356	9	0.87932	D	0	-7.0861	15.2873	0.73838	1.0:0.0:0.0:0.0	.	507	Q9BZK7	TBL1R_HUMAN	G	507;507;369	ENSP00000405574:V507G;ENSP00000413251:V507G	ENSP00000405574:V507G	V	-	2	0	TBL1XR1	178226005	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.910000	0.92685	2.255000	0.74692	0.533000	0.62120	GTT	TBL1XR1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000177565		0.343	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3		0	31	0	A	NM_024665	Missense_Mutation	176743311	-1			no_errors	ENST00000430069	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	C	C	176743311	A	C	176743311	5	2	87	1	0	0	0	0	0	0	1	0	15687	57	2	4	28	4	TBL1XR1	3	176743311	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	9305411	176743311	21279119	446	23570											
PEX5L	51555	genome.wustl.edu	37	chr3	179519743	179519743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagatattcccagagattGcaggatgaggaacttgctgc	11	9	11	10	0	0	3	0	1	0	2	1	6	1	5	2	2	4	2	2	2	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:179519743G>A	ENST00000467460.1	-	15	2084	c.1754C>T	c.(1753-1755)gCa>gTa	p.A585V	RP11-494H4.3_ENST00000602704.1_lincRNA|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A393V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A542V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A550V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A526V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A561V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A477V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A477V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A583V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	585					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCAGAGATTGCAGGATGAGG	0.483																																																	0													161	172	168					3																	179519743		2203	4300	6503	SO:0001583	missense	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1754C>T	3.37:g.179519743G>A	ENSP00000419975:p.Ala585Val		B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A585V	ENST00000467460.1	37	c.1754	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798562	0.31777	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.72	5.72	0.89469	.	0.140567	0.50627	D	0.000118	T	0.55289	0.1911	N	0.02916	-0.46	0.43047	D	0.994648	B;B;B;B;B;B	0.13594	0.002;0.002;0.004;0.008;0.003;0.005	B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.001;0.001	T	0.54403	-0.8299	10	0.30078	T	0.28	-15.5032	13.1186	0.59313	0.073:0.0:0.927:0.0	.	526;561;477;583;550;585	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	585;583;550;583;477;393;542;473;526;477;561	ENSP00000419975:A585V;ENSP00000263962:A583V;ENSP00000418440:A550V;ENSP00000376420:A477V;ENSP00000418665:A393V;ENSP00000420555:A542V;ENSP00000418054:A526V;ENSP00000417270:A477V;ENSP00000419348:A561V	ENSP00000263962:A583V	A	-	2	0	PEX5L	181002437	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	4.810000	0.62598	2.700000	0.92200	0.585000	0.79938	GCA	PEX5L	-	NULL	ENSG00000114757		0.483	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0	44	0	G	NM_016559		179519743	-1	tier1	-	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	10.71	50	6	SNP	0.987	A	A	179519743	G	A	179519743	3	1	87	1	0	0	0	0	1	0	0	0	11788	1319	46	3	130	3	PEX5L	3	179519743	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2776432	179519743	18502687	447	23571											
CCDC39	339829	genome.wustl.edu	37	chr3	180334382	180334382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaacatttcatcaataacTttgtgaaactgtttcatttc	13	17	3	8	0	3	1	3	1	0	0	4	1	3	1	0	0	3	1	0	0	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:180334382T>G	ENST00000442201.2	-	18	2627	c.2508A>C	c.(2506-2508)aaA>aaC	p.K836N	TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000273654.4_3'UTR	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	836					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CATCAATAACTTTGTGAAACT	0.323																																																	0													67	61	63					3																	180334382		1832	4067	5899	SO:0001583	missense	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2508A>C	3.37:g.180334382T>G	ENSP00000405708:p.Lys836Asn		B4E2H1	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K836N	ENST00000442201.2	37	c.2508	CCDS46964.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.35|13.35	2.211420|2.211420	0.39102|0.39102	.|.	.|.	ENSG00000145075|ENSG00000145075	ENST00000489868;ENST00000442201|ENST00000473854	T|.	0.79247|.	-1.25|.	5.24|5.24	2.47|2.47	0.30058|0.30058	.|.	.|.	.|.	.|.	.|.	T|T	0.65080|0.65080	0.2657|0.2657	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.56751|.	0.805|.	T|T	0.65340|0.65340	-0.6192|-0.6192	9|6	0.52906|0.72032	T|D	0.07|0.01	.|.	6.9531|6.9531	0.24556|0.24556	0.0:0.5448:0.0:0.4552|0.0:0.5448:0.0:0.4552	.|.	836|.	Q9UFE4|.	CCD39_HUMAN|.	N|T	8;836|20	ENSP00000405708:K836N|.	ENSP00000405708:K836N|ENSP00000418482:K20T	K|K	-|-	3|2	2|0	CCDC39|CCDC39	181817076|181817076	0.235000|0.235000	0.23794|0.23794	0.998000|0.998000	0.56505|0.56505	0.717000|0.717000	0.41224|0.41224	0.620000|0.620000	0.24403|0.24403	0.792000|0.792000	0.33850|0.33850	-0.408000|-0.408000	0.06270|0.06270	AAA|AAG	CCDC39	-	NULL	ENSG00000145075		0.323	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0	43	0	T	XM_291028		180334382	-1	tier1	-	no_errors	ENST00000442201	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.988	G	G	180334382	T	G	180334382	3	3	87	1	0	0	0	0	1	0	0	0	2818	1606	56	4	329	4	CCDC39	3	180334382	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	814639	180334382	17688048	448	23572											
SOX2	6657	genome.wustl.edu	37	chr3	181431011	181431011	+	Frame_Shift_Del	DEL	C	C	-																															cgaggtgccggaacccgccgCccccagcagacttcacatgt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:181431011delC	ENST00000325404.1	+	1	1290	c.863delC	c.(862-864)gccfs	p.A288fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.A288fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	288					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GAACCCGCCGCCCCCAGCAGA	0.682			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													10	12	11					3																	181431011		2075	4119	6194	SO:0001589	frameshift_variant	0			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"SRY (sex determining region Y)-boxes"	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.863delC	3.37:g.181431011delC	ENSP00000323588:p.Ala288fs		Q14537	Frame_Shift_Del	DEL	pfam_TF_SOX,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S290fs	ENST00000325404.1	37	c.863	CCDS3239.1	3																																																																																			SOX2	-	NULL	ENSG00000181449		0.682	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1		0	37	0	C	NM_003106		181431011	1	tier1		no_errors	ENST00000325404	ensembl	human	known	74_37	frame_shift_del	16.67	15	3	DEL	1.000	-	-	181431011	C	-	181431011	7	5	87	1	0	1	0	1	0	0	0	0	14994	739	26	0	865	0	SOX2	3	181431011	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1096629	181431011	16591419	449	23573											
MCCC1	56922	genome.wustl.edu	37	chr3	182804530	182804530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattttctccatagataggTagctctgctgggagggagcg	8	12	14	7	1	2	2	0	1	2	1	3	4	2	4	1	3	3	3	1	3	3	5	rs144872258		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:182804530T>C	ENST00000265594.4	-	4	466	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_5'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	107	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATAGATAGGTAGCTCTGCTG	0.453																																																	0								T	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	90	76	81		320	5.5	1	3	dbSNP_134	81	0,8600		0,0,4300	no	missense	MCCC1	NM_020166.3	194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	107/726	182804530	1,13005	2203	4300	6503	SO:0001583	missense	0			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.320A>G	3.37:g.182804530T>C	ENSP00000265594:p.Tyr107Cys		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.Y107C	ENST00000265594.4	37	c.320	CCDS3241.1	3	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481468	0.84747	2.27E-4	0.0	ENSG00000078070	ENST00000265594;ENST00000476176;ENST00000448585	D;D	0.99499	-6.02;-6.02	5.5	5.5	0.81552	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96546	0.9404	10	0.87932	D	0	.	15.2698	0.73693	0.0:0.0:0.0:1.0	.	60;107	E9PG35;Q96RQ3	.;MCCA_HUMAN	C	107;60;60	ENSP00000265594:Y107C;ENSP00000420433:Y60C	ENSP00000265594:Y107C	Y	-	2	0	MCCC1	184287224	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.362000	0.79507	2.103000	0.63969	0.460000	0.39030	TAC	MCCC1	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom	ENSG00000078070		0.453	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	HGNC	protein_coding	OTTHUMT00000350775.1	-	0	71	0	T	NM_020166		182804530	-1	tier1	rs144872258	no_errors	ENST00000265594	ensembl	human	known	74_37	missense	6.17	75	5	SNP	1.000	C	C	182804530	T	C	182804530	3	2	87	1	0	0	0	0	1	0	0	0	9412	1638	57	4	1921	4	MCCC1	3	182804530	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1373519	182804530	15217900	450	23574											
KLHL6	89857	genome.wustl.edu	37	chr3	183245687	183245687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattctgcttggtgatcagCgccttgctggtgtacgtgta	6	14	12	9	2	2	1	1	1	1	0	2	1	2	1	1	2	4	4	1	2	2	5	rs141903870	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:183245687C>T	ENST00000341319.3	-	2	440	c.405G>A	c.(403-405)gcG>gcA	p.A135A	KLHL6_ENST00000487643.1_5'UTR	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	135	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGTGATCAGCGCCTTGCTGG	0.483																																																	0								C		0,4406		0,0,2203	203	172	182		405	1.3	1	3	dbSNP_134	182	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	KLHL6	NM_130446.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		135/622	183245687	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.405G>A	3.37:g.183245687C>T			B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A135	ENST00000341319.3	37	c.405	CCDS3245.2	3																																																																																			KLHL6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000172578		0.483	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	-	0	49	0	C	NM_130446		183245687	-1	tier1	rs141903870	no_errors	ENST00000341319	ensembl	human	known	74_37	silent	33.33	34	17	SNP	1.000	T	T	183245687	C	T	183245687	2	4	87	1	0	0	0	0	0	0	0	1	8420	755	27	1		1	KLHL6	3	183245687	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	441157	183245687	14776743	451	23575											
YEATS2	55689	genome.wustl.edu	37	chr3	183454555	183454555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggtgagtttcccgtcAgagttcaagttcattttaag	8	14	12	7	1	3	2	3	1	0	1	4	2	4	2	1	2	0	4	1	2	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:183454555A>G	ENST00000305135.5	+	8	1057	c.862A>G	c.(862-864)Aga>Gga	p.R288G		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	288	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTTCCCGTCAGAGTTCAAGT	0.418																																																	0													139	130	133					3																	183454555		1857	4105	5962	SO:0001583	missense	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.862A>G	3.37:g.183454555A>G	ENSP00000306983:p.Arg288Gly		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.R288G	ENST00000305135.5	37	c.862	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	A	18.62	3.662756	0.67700	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.27104	1.69	5.52	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.42494	0.1205	L	0.49778	1.585	0.58432	D	0.999996	D	0.57899	0.981	D	0.68039	0.955	T	0.26608	-1.0098	10	0.72032	D	0.01	-28.4756	12.0122	0.53293	0.7266:0.2734:0.0:0.0	.	288	Q9ULM3	YETS2_HUMAN	G	288	ENSP00000306983:R288G	ENSP00000306983:R288G	R	+	1	2	YEATS2	184937249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.116000	0.57871	0.906000	0.36621	0.528000	0.53228	AGA	YEATS2	-	pfam_YEATS,pfscan_YEATS	ENSG00000163872		0.418	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	-	0	73	0	A	NM_018023		183454555	1	tier1	-	no_errors	ENST00000305135	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	G	G	183454555	A	G	183454555	3	3	87	1	0	0	0	0	1	0	0	0	17521	180	7	4	888	4	YEATS2	3	183454555	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	208868	183454555	14567875	452	23576											
ABCC5	10057	genome.wustl.edu	37	chr3	183665256	183665257	+	Frame_Shift_Ins	INS	-	-	A																															accgcatcgcacacgtaaacINSaaaaaaaaaggagcttggtt																								rs374387850		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:183665256_183665257insA	ENST00000334444.6	-	23	3509_3510	c.3269_3270insT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CACACGTAAACAAAAAAAAAGG	0.53																																																	0																																										SO:0001589	frameshift_variant	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3270dupT	3.37:g.183665265_183665265dupA	ENSP00000333926:p.Leu1090fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L1090fs	ENST00000334444.6	37	c.3270_3269	CCDS43176.1	3																																																																																			ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.53	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1		0	31	0	-	NM_005688		183665257	-1	tier1		no_errors	ENST00000334444	ensembl	human	known	74_37	frame_shift_ins	22.22	21	6	INS	1.000:1.000	A	A	183665257	-	A	183665256	7	5	87	1	0	1	1	0	0	0	0	0	56	477	17	0	1075	0	ABCC5	3	183665256	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	210701	183665256	14357174	453	23577											
CLCN2	1181	genome.wustl.edu	37	chr3	184075198	184075198	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggaagatgaaggcactgaAggtggcagcgaagaagcccc	13	3	15	10	2	0	4	0	2	0	2	0	6	0	5	3	4	2	2	3	4	5	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:184075198A>C	ENST00000265593.4	-	8	1021	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V	CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.F284V|CLCN2_ENST00000434054.2_Missense_Mutation_p.F240V|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.F284V|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	284					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AAGGCACTGAAGGTGGCAGCG	0.637																																																	0													71	80	77					3																	184075198		2203	4300	6503	SO:0001583	missense	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.850T>G	3.37:g.184075198A>C	ENSP00000265593:p.Phe284Val		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.F284V	ENST00000265593.4	37	c.850	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	a	16.45	3.127206	0.56721	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08	5.53	5.53	0.82687	Chloride channel, core (2);	0.049698	0.85682	D	0.000000	D	0.85487	0.5708	N	0.03224	-0.385	0.80722	D	1	P;P;B;B;P	0.50369	0.624;0.934;0.412;0.36;0.888	B;P;B;B;P	0.48598	0.304;0.583;0.164;0.102;0.528	D	0.87679	0.2546	10	0.40728	T	0.16	-24.8274	14.6425	0.68737	1.0:0.0:0.0:0.0	.	284;240;284;284;284	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	V	284;284;240;284	ENSP00000265593:F284V;ENSP00000345056:F284V;ENSP00000400425:F240V;ENSP00000391928:F284V	ENSP00000265593:F284V	F	-	1	0	CLCN2	185557892	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.003000	0.63959	2.099000	0.63709	0.459000	0.35465	TTC	CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.637	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0	73	0	A			184075198	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	16.67	49	10	SNP	1.000	C	C	184075198	A	C	184075198	3	2	87	1	0	0	0	0	1	0	0	0	3470	72	3	4	1914	4	CLCN2	3	184075198	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	409942	184075198	13947232	454	23578											
VPS8	23355	genome.wustl.edu	37	chr3	184675241	184675241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattgagctgttgtgtcagTtcaacccaacccaagttata	11	13	7	10	0	3	1	3	1	0	0	3	1	3	1	2	0	3	4	2	0	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:184675241T>C	ENST00000437079.3	+	37	3286	c.3115T>C	c.(3115-3117)Ttc>Ctc	p.F1039L	VPS8_ENST00000446204.2_Missense_Mutation_p.F947L|VPS8_ENST00000287546.4_Missense_Mutation_p.F1039L|VPS8_ENST00000436792.2_Missense_Mutation_p.F1037L	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1039							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTTGTGTCAGTTCAACCCAAC	0.383																																																	0													86	81	83					3																	184675241		1890	4116	6006	SO:0001583	missense	0			AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"KIAA0804"	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.3115T>C	3.37:g.184675241T>C	ENSP00000397879:p.Phe1039Leu		A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1039L	ENST00000437079.3	37	c.3115	CCDS46971.1	3	.	.	.	.	.	.	.	.	.	.	T	15.25	2.776405	0.49786	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.20332	2.11;2.11;2.11;2.08	5.46	5.46	0.80206	Quinonprotein alcohol dehydrogenase-like (1);	0.225392	0.47455	D	0.000232	T	0.18299	0.0439	L	0.40543	1.245	0.42198	D	0.991756	B;B;P	0.35575	0.22;0.104;0.51	B;B;B	0.36666	0.086;0.135;0.23	T	0.06267	-1.0836	10	0.15952	T	0.53	-22.2172	13.0732	0.59074	0.0:0.0:0.0:1.0	.	1039;947;1037	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	L	1039;1039;1037;947	ENSP00000287546:F1039L;ENSP00000397879:F1039L;ENSP00000404704:F1037L;ENSP00000405483:F947L	ENSP00000287546:F1039L	F	+	1	0	VPS8	186157935	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	2.134000	0.42102	2.062000	0.61559	0.533000	0.62120	TTC	VPS8	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000156931		0.383	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS8	HGNC	protein_coding		-	0	52	0	T	NM_015303		184675241	1	tier1	-	no_errors	ENST00000287546	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	C	C	184675241	T	C	184675241	3	2	87	1	0	0	0	0	1	0	0	0	17267	1725	60	4	3253	4	VPS8	3	184675241	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	600043	184675241	13347189	455	23579											
C3orf70	285382	genome.wustl.edu	37	chr3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccccgctccgacgccggcGaggccgccgcactcatttcc	6	5	10	20	7	1	0	1	0	0	0	3	2	3	0	7	2	1	2	7	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16	17	17					3																	184870595		2196	4292	6488	SO:0001583	missense	0				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL	ENSG00000187068		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	-	0	27	0	G	NM_001025266		184870595	-1	tier1	-	no_errors	ENST00000335012	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.804	A	A	184870595	G	A	184870595	3	1	87	1	0	0	0	0	1	0	0	0	2249	1059	37	1	743	1	C3orf70	3	184870595	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	195354	184870595	13151835	456	23580											
MAP3K13	9175	genome.wustl.edu	37	chr3	185184613	185184613	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgcctttattctgcaGgcgtgagcaagcagtggaaa	9	12	12	8	1	1	1	0	1	1	0	1	2	1	2	1	2	4	4	1	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:185184613G>A	ENST00000265026.3	+	10	1839		c.e10-1		MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTATTCTGCAGGCGTGAGCAA	0.458																																																	0													119	101	107					3																	185184613		2203	4300	6503	SO:0001630	splice_region_variant	0			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6852	protein-coding gene	gene with protein product	"leucine zipper-bearing kinase"	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1506-1G>A	3.37:g.185184613G>A				Splice_Site	SNP	-	e9-1	ENST00000265026.3	37	c.1506-1	CCDS3270.1	3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272129	0.80469	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K13	186667307	1.000000	0.71417	0.996000	0.52242	0.796000	0.44982	9.695000	0.98691	2.776000	0.95493	0.655000	0.94253	.	MAP3K13	-	-	ENSG00000073803		0.458	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K13	HGNC	protein_coding	OTTHUMT00000345268.1	-	0	50	0	G	NM_004721	Intron	185184613	1	tier1	-	no_errors	ENST00000265026	ensembl	human	known	74_37	splice_site	19.51	33	8	SNP	1.000	A	A	185184613	G	A	185184613	5	1	87	1	0	0	0	0	0	0	1	0	9285	1014	35	3	1539	3	MAP3K13	3	185184613	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	314018	185184613	12837817	457	23581											
DGKG	1608	genome.wustl.edu	37	chr3	185970893	185970893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaactcacctcctccccagCggagacaacgggcaaggtca	12	4	9	16	2	2	1	2	0	0	1	4	2	4	1	4	3	3	1	4	3	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:185970893C>T	ENST00000265022.3	-	18	2128	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	DGKG_ENST00000382164.4_Missense_Mutation_p.R491H|DGKG_ENST00000344484.4_Missense_Mutation_p.R505H|DGKG_ENST00000544847.1_Missense_Mutation_p.R471H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	530	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TCCTCCCCAGCGGAGACAACG	0.512																																																	0													163	125	138					3																	185970893		2203	4300	6503	SO:0001583	missense	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"EF-hand domain containing"	2853	protein-coding gene	gene with protein product		601854	"diacylglycerol kinase, gamma (90kD)"	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.1589G>A	3.37:g.185970893C>T	ENSP00000265022:p.Arg530His		B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R530H	ENST00000265022.3	37	c.1589	CCDS3274.1	3	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918075	0.73098	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847;ENST00000538691	T;T;T;T	0.42131	0.99;0.98;0.99;0.99	4.97	4.97	0.65823	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	M	0.62016	1.91	0.80722	D	1	P;P;P;P	0.49961	0.873;0.873;0.914;0.93	P;P;P;P	0.54346	0.584;0.584;0.633;0.749	T	0.58137	-0.7689	10	0.59425	D	0.04	.	17.5152	0.87771	0.0:1.0:0.0:0.0	.	471;505;491;530	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	H	530;505;491;471;494	ENSP00000265022:R530H;ENSP00000339777:R505H;ENSP00000371599:R491H;ENSP00000440507:R471H	ENSP00000265022:R530H	R	-	2	0	DGKG	187453587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.774000	0.68906	2.742000	0.94016	0.655000	0.94253	CGC	DGKG	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000058866		0.512	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	-	0	54	0	C			185970893	-1	tier1	-	no_errors	ENST00000265022	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T	T	185970893	C	T	185970893	3	4	87	1	0	0	0	0	1	0	0	0	4483	768	27	1	818	1	DGKG	3	185970893	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	786280	185970893	12051537	458	23582											
BCL6	604	genome.wustl.edu	37	chr3	187440319	187440319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccttggtgttggtgatgGcgccatgcttctggcgcaag	5	11	15	10	2	1	1	0	1	1	0	1	1	1	1	2	4	1	4	2	4	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:187440319G>T	ENST00000406870.2	-	10	2414	c.2048C>A	c.(2047-2049)gCc>gAc	p.A683D	BCL6_ENST00000232014.4_Missense_Mutation_p.A683D|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A627D|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	683					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGTGATGGCGCCATGCTT	0.547			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													146	126	133					3																	187440319		2203	4300	6503	SO:0001583	missense	0				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	1001	protein-coding gene	gene with protein product		109565	"zinc finger protein 51"	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.2048C>A	3.37:g.187440319G>T	ENSP00000384371:p.Ala683Asp		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A683D	ENST00000406870.2	37	c.2048	CCDS3289.1	3	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883007	0.72410	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.08102	3.13;3.13;3.13	5.82	4.94	0.65067	.	0.096208	0.64402	D	0.000001	T	0.27454	0.0674	M	0.70275	2.135	0.80722	D	1	P;D	0.71674	0.578;0.998	B;D	0.80764	0.17;0.994	T	0.01488	-1.1342	10	0.35671	T	0.21	.	15.4107	0.74917	0.0:0.0:0.8598:0.1402	.	627;683	B8PSA7;P41182	.;BCL6_HUMAN	D	683;683;627	ENSP00000384371:A683D;ENSP00000232014:A683D;ENSP00000413122:A627D	ENSP00000232014:A683D	A	-	2	0	BCL6	188923013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	1.455000	0.47813	0.650000	0.86243	GCC	BCL6	-	NULL	ENSG00000113916		0.547	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1		0	55	0	G	NM_138931		187440319	-1			no_errors	ENST00000232014	ensembl	human	known	74_37	missense	6.25	44	3	SNP	1.000	T	T	187440319	G	T	187440319	3	4	87	1	0	0	0	0	1	0	0	0	1377	1203	42	3	76	3	BCL6	3	187440319	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1469426	187440319	10582111	459	23583											
ATP13A3	79572	genome.wustl.edu	37	chr3	194174452	194174452	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccttcatttactctacaaActgaaactcttacggtacta	13	14	3	11	1	3	1	1	1	2	0	3	1	3	1	1	1	7	1	1	1	8	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:194174452A>T	ENST00000439040.1	-	10	1612	c.821T>A	c.(820-822)gTt>gAt	p.V274D	ATP13A3_ENST00000256031.4_Missense_Mutation_p.V274D			Q9H7F0	AT133_HUMAN	ATPase type 13A3	274						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TACTCTACAAACTGAAACTCT	0.343																																																	0													104	94	98					3																	194174452		1863	4119	5982	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.821T>A	3.37:g.194174452A>T	ENSP00000416508:p.Val274Asp		Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.V274D	ENST00000439040.1	37	c.821	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530312	0.85706	.	.	ENSG00000133657	ENST00000439040;ENST00000256031;ENST00000310773	D;D	0.90261	-2.64;-2.64	5.43	5.43	0.79202	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97068	0.9042	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98032	1.0377	10	0.52906	T	0.07	-16.4753	15.4922	0.75615	1.0:0.0:0.0:0.0	.	274	Q9H7F0	AT133_HUMAN	D	274;274;12	ENSP00000416508:V274D;ENSP00000256031:V274D	ENSP00000256031:V274D	V	-	2	0	ATP13A3	195655741	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.918000	0.92759	2.065000	0.61736	0.528000	0.53228	GTT	ATP13A3	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000133657		0.343	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	-	0	52	0	A	NM_024524		194174452	-1	tier1	-	no_errors	ENST00000256031	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	T	T	194174452	A	T	194174452	3	4	87	1	0	0	0	0	1	0	0	0	1126	43	2	5	2955	5	ATP13A3	3	194174452	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	6734133	194174452	3847978	460	23584											
C3orf21	152002	genome.wustl.edu	37	chr3	194877218	194877218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctatgccgatgatggCgcctggcaggaaactgtcaa	9	7	14	11	3	1	1	1	1	0	0	1	3	1	2	3	4	2	2	3	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:194877218C>T	ENST00000310380.6	-	3	853	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	XXYLT1_ENST00000355729.4_Missense_Mutation_p.A46T|XXYLT1_ENST00000437101.1_Missense_Mutation_p.A46T|XXYLT1_ENST00000429994.1_Missense_Mutation_p.A103T	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	249						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CCGATGATGGCGCCTGGCAGG	0.577																																																	0													64	70	68					3																	194877218		1940	4139	6079	SO:0001583	missense	0			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"Glycosyltransferase family 8 domain containing"	26639	protein-coding gene	gene with protein product		614552	"chromosome 3 open reading frame 21"	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.745G>A	3.37:g.194877218C>T	ENSP00000309640:p.Ala249Thr		D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.A249T	ENST00000310380.6	37	c.745	CCDS43188.1	3	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489874	0.26686	.	.	ENSG00000173950	ENST00000310380;ENST00000437101;ENST00000355729;ENST00000429994;ENST00000458652	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.48	4.6	0.57074	.	0.163774	0.53938	D	0.000050	T	0.12305	0.0299	L	0.32530	0.975	0.45439	D	0.998418	P;P;B	0.38551	0.636;0.469;0.286	B;B;B	0.30646	0.118;0.058;0.032	T	0.03130	-1.1069	10	0.45353	T	0.12	-5.5457	6.3346	0.21289	0.1837:0.7253:0.0:0.091	.	103;249;46	C9JV19;Q8NBI6;Q8NBI6-2	.;XXLT1_HUMAN;.	T	249;46;46;103;103	ENSP00000309640:A249T;ENSP00000409865:A46T;ENSP00000347967:A46T;ENSP00000399422:A103T	ENSP00000309640:A249T	A	-	1	0	C3orf21	196358507	0.997000	0.39634	0.337000	0.25536	0.624000	0.37722	3.629000	0.54266	2.569000	0.86673	0.563000	0.77884	GCC	XXYLT1	-	pfam_Glyco_trans_8	ENSG00000173950		0.577	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	-	0	47	0	C	NM_152531		194877218	-1	tier1	-	no_errors	ENST00000310380	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.905	T	T	194877218	C	T	194877218	3	4	87	1	0	0	0	0	1	0	0	0	2221	768	27	1	444	1	C3orf21	3	194877218	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	702766	194877218	3145212	461	23585											
PCYT1A	5130	genome.wustl.edu	37	chr3	195974305	195974305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacctcatccacgtagCggcagtgctggactgcgtca	8	8	10	15	3	3	0	3	0	0	0	4	1	4	1	3	2	3	3	3	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:195974305C>T	ENST00000292823.2	-	6	591	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PCYT1A_ENST00000491544.1_5'Flank|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R140H|PCYT1A_ENST00000419333.1_Missense_Mutation_p.R140H	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	140					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	ATCCACGTAGCGGCAGTGCTG	0.537																																																	0													214	175	188					3																	195974305		2203	4300	6503	SO:0001583	missense	0			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"phosphate cytidylyltransferase 1, choline, alpha isoform"	123695	"phosphate cytidylyltransferase 1, choline, alpha isoform"	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.419G>A	3.37:g.195974305C>T	ENSP00000292823:p.Arg140His		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like	p.R140H	ENST00000292823.2	37	c.419	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	c	35	5.584559	0.96578	.	.	ENSG00000161217	ENST00000441879;ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14;-4.14;-4.14;-4.14	5.58	5.58	0.84498	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99437	1.0937	10	0.87932	D	0	-36.5674	18.6225	0.91326	0.0:1.0:0.0:0.0	.	140	P49585	PCY1A_HUMAN	H	140;140;140;101;140;140;13;74	ENSP00000392397:R140H;ENSP00000390968:R140H;ENSP00000292823:R140H;ENSP00000394617:R140H;ENSP00000400430:R140H;ENSP00000390458:R13H;ENSP00000402283:R74H	ENSP00000292823:R140H	R	-	2	0	PCYT1A	197458702	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.485000	0.81204	2.634000	0.89283	0.645000	0.84053	CGC	PCYT1A	-	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	ENSG00000161217		0.537	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	-	0	59	0	C	NM_005017		195974305	-1	tier1	-	no_errors	ENST00000292823	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	T	T	195974305	C	T	195974305	3	4	87	1	0	0	0	0	1	0	0	0	11649	768	27	1	704	1	PCYT1A	3	195974305	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1097087	195974305	2048125	462	23586											
LRRC33	375387	genome.wustl.edu	37	chr3	196386809	196386809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggagcgcatcagccgcGgcgccttccaggagcaaggt	8	5	14	14	4	1	0	1	0	0	0	2	2	2	2	4	4	3	2	4	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:196386809G>A	ENST00000328557.4	+	3	498	c.295G>A	c.(295-297)Ggc>Agc	p.G99S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	99					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CATCAGCCGCGGCGCCTTCCA	0.652																																																	0													43	41	42					3																	196386809		2203	4300	6503	SO:0001583	missense	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.295G>A	3.37:g.196386809G>A	ENSP00000328625:p.Gly99Ser			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G99S	ENST00000328557.4	37	c.295	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	G	9.481	1.098227	0.20552	.	.	ENSG00000174004	ENST00000328557	T	0.00864	5.6	6.07	-1.61	0.08399	.	1.039030	0.07470	N	0.902146	T	0.01156	0.0038	M	0.72576	2.205	0.09310	N	1	P	0.37663	0.604	B	0.32465	0.146	T	0.47995	-0.9073	10	0.12430	T	0.62	.	5.9354	0.19163	0.1255:0.3283:0.4504:0.0958	.	99	Q86YC3	LRC33_HUMAN	S	99	ENSP00000328625:G99S	ENSP00000328625:G99S	G	+	1	0	LRRC33	197871206	0.001000	0.12720	0.000000	0.03702	0.506000	0.33950	1.270000	0.33086	-0.198000	0.10333	0.655000	0.94253	GGC	NRROS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174004		0.652	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1	-	0	70	0	G	NM_198565		196386809	1	tier1	-	no_errors	ENST00000328557	ensembl	human	known	74_37	missense	9.38	58	6	SNP	0.000	A	A	196386809	G	A	196386809	3	1	87	1	0	0	0	0	1	0	0	0	9023	1116	39	1	301	1	LRRC33	3	196386809	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	412504	196386809	1635621	463	23587											
LRRC33	375387	genome.wustl.edu	37	chr3	196386875	196386875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaactgcctctcagagaacTacgaagagacggcagccgcc	13	4	10	14	3	1	2	1	0	1	2	2	5	1	2	3	1	5	1	3	1	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:196386875T>C	ENST00000328557.4	+	3	564	c.361T>C	c.(361-363)Tac>Cac	p.Y121H		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	121					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTCAGAGAACTACGAAGAGAC	0.672																																																	0													26	28	27					3																	196386875		2203	4300	6503	SO:0001583	missense	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.361T>C	3.37:g.196386875T>C	ENSP00000328625:p.Tyr121His			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y121H	ENST00000328557.4	37	c.361	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	T	10.10	1.258680	0.23051	.	.	ENSG00000174004	ENST00000328557	T	0.00949	5.51	6.07	2.26	0.28386	.	0.403283	0.28296	N	0.015879	T	0.00875	0.0029	L	0.39020	1.185	0.80722	D	1	B	0.14012	0.009	B	0.11329	0.006	T	0.58020	-0.7710	10	0.17832	T	0.49	.	6.8154	0.23826	0.0:0.1326:0.128:0.7394	.	121	Q86YC3	LRC33_HUMAN	H	121	ENSP00000328625:Y121H	ENSP00000328625:Y121H	Y	+	1	0	LRRC33	197871272	1.000000	0.71417	0.986000	0.45419	0.027000	0.11550	2.135000	0.42112	0.549000	0.28973	-0.250000	0.11733	TAC	NRROS	-	NULL	ENSG00000174004		0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1	-	0	70	0	T	NM_198565		196386875	1	tier1	-	no_errors	ENST00000328557	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.895	C	C	196386875	T	C	196386875	3	2	87	1	0	0	0	0	1	0	0	0	9023	1522	53	4	367	4	LRRC33	3	196386875	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	66	196386875	1635555	464	23588											
MFI2	4241	genome.wustl.edu	37	chr3	196737650	196737650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgccactcagggtcacagCgtcgacctgctcagcctgaa	8	7	10	16	3	3	1	3	1	0	0	5	2	3	1	3	1	3	1	3	1	1	0	rs151109969		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:196737650C>T	ENST00000296350.5	-	10	1362	c.1249G>A	c.(1249-1251)Gct>Act	p.A417T		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	417	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGGGTCACAGCGTCGACCTGC	0.667																																																	0								C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	43	43	43		1249	3.6	0.1	3	dbSNP_134	43	0,8600		0,0,4300	no	missense	MFI2	NM_005929.5	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	417/739	196737650	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"CD molecules"	7037	protein-coding gene	gene with protein product	"melanotransferrin", "membrane-bound transferrin-like protein"	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1249G>A	3.37:g.196737650C>T	ENSP00000296350:p.Ala417Thr		Q9BQE2	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.A417T	ENST00000296350.5	37	c.1249	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	C	8.371	0.835408	0.16820	2.27E-4	0.0	ENSG00000163975	ENST00000296350	T	0.51325	0.71	5.39	3.59	0.41128	.	0.292006	0.36665	N	0.002471	T	0.52741	0.1753	M	0.87971	2.92	0.09310	N	0.999992	P	0.38978	0.652	B	0.35727	0.209	T	0.50915	-0.8771	10	0.56958	D	0.05	-2.9369	13.3752	0.60734	0.0:0.8544:0.0:0.1456	.	417	P08582	TRFM_HUMAN	T	417	ENSP00000296350:A417T	ENSP00000296350:A417T	A	-	1	0	MFI2	198222047	0.981000	0.34729	0.055000	0.19348	0.017000	0.09413	3.341000	0.52151	0.270000	0.21984	-1.119000	0.02030	GCT	MFI2	-	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin	ENSG00000163975		0.667	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	-	0	138	0	C			196737650	-1	tier1	rs151109969	no_errors	ENST00000296350	ensembl	human	known	74_37	missense	14.86	125	22	SNP	0.023	T	T	196737650	C	T	196737650	3	4	87	1	0	0	0	0	1	0	0	0	9560	768	27	1	995	1	MFI2	3	196737650	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	350775	196737650	1284780	465	23589											
LMLN	89782	genome.wustl.edu	37	chr3	197687103	197687103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcactccatggtaacgaCgctcggcccgaagatggcgg	9	5	13	14	6	0	1	0	0	0	1	2	3	1	1	2	4	1	3	2	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr3:197687103C>A	ENST00000330198.4	+	1	33	c.11C>A	c.(10-12)aCg>aAg	p.T4K	LMLN_ENST00000332636.5_5'Flank|IQCG_ENST00000480302.1_5'Flank|LMLN_ENST00000482695.1_5'UTR|LMLN_ENST00000420910.2_Missense_Mutation_p.T4K|IQCG_ENST00000265239.6_5'Flank	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	4					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		ATGGTAACGACGCTCGGCCCG	0.746																																																	0													15	19	18					3																	197687103		2197	4295	6492	SO:0001583	missense	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.11C>A	3.37:g.197687103C>A	ENSP00000328829:p.Thr4Lys		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.T4K	ENST00000330198.4	37	c.11	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765121	0.90020	.	.	ENSG00000185621	ENST00000330198;ENST00000420910	T;T	0.44482	0.93;0.92	4.22	4.22	0.49857	.	0.000000	0.39020	N	0.001499	T	0.25494	0.0620	N	0.19112	0.55	0.80722	D	1	P;P	0.39424	0.543;0.673	B;B	0.31547	0.098;0.132	T	0.19910	-1.0291	10	0.87932	D	0	-3.053	12.3587	0.55190	0.0:1.0:0.0:0.0	.	4;4	Q96KR4;F8WB28	LMLN_HUMAN;.	K	4	ENSP00000328829:T4K;ENSP00000410926:T4K	ENSP00000328829:T4K	T	+	2	0	LMLN	199171500	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.762000	0.38451	2.360000	0.80028	0.456000	0.33151	ACG	LMLN	-	NULL	ENSG00000185621		0.746	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	-	0	17	0	C	NM_033029		197687103	1	tier1	-	no_errors	ENST00000330198	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	A	A	197687103	C	A	197687103	3	1	87	1	0	0	0	0	1	0	0	0	8877	536	19	2	13	2	LMLN	3	197687103	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	949453	197687103	335327	466	23590											
SLC26A1	10861	genome.wustl.edu	37	chr4	985263	985263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgatgccgatgaccaGcccagacatgacgtcgcctg	10	6	12	13	3	0	4	0	3	0	1	1	6	0	5	4	1	2	0	4	1	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:985263G>A	ENST00000361661.2	-	3	606	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	SLC26A1_ENST00000398520.2_Silent_p.L77L|SLC26A1_ENST00000398516.2_Silent_p.L77L|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	77					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGATGACCAGCCCAGACATG	0.667																																																	0													67	61	63					4																	985263		2202	4300	6502	SO:0001819	synonymous_variant	0			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"Solute carriers"	10993	protein-coding gene	gene with protein product		610130	"solute carrier family 26 (sulfate transporter), member 1"				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.229C>T	4.37:g.985263G>A			A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L77	ENST00000361661.2	37	c.229	CCDS33934.1	4																																																																																			SLC26A1	-	tigrfam_SulP_transpt	ENSG00000145217		0.667	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	-	0	49	0	G	NM_022042, NM_134425		985263	-1	tier1	-	no_errors	ENST00000361661	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.240	A	A	985263	G	A	985263	2	1	87	1	0	0	0	0	0	0	0	1	14559	962	34	3		3	SLC26A1	4	985263	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		985263	190169013	467	23591											
TMEM129	92305	genome.wustl.edu	37	chr4	1719363	1719363	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctgcggatgggtgcccgGagcttctcgcagagctcccc	4	7	14	16	3	1	1	0	0	1	1	3	3	2	3	4	3	4	3	4	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:1719363G>T	ENST00000382936.3	-	3	1213	c.720C>A	c.(718-720)ctC>ctA	p.L240L	TMEM129_ENST00000303277.2_Intron|TMEM129_ENST00000536901.1_Silent_p.L240L	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	240					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			TGGGTGCCCGGAGCTTCTCGC	0.642																																																	0													48	56	54					4																	1719363		692	1591	2283	SO:0001819	synonymous_variant	0			BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"transmembrane protein 129"			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.720C>A	4.37:g.1719363G>T			A6NH49|A6NI98|D3DVP8	Silent	SNP	pfam_Tmpp129	p.L240	ENST00000382936.3	37	c.720	CCDS46998.1	4																																																																																			TMEM129	-	pfam_Tmpp129	ENSG00000168936		0.642	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM129	HGNC	protein_coding	OTTHUMT00000350724.1	-	0	29	0	G	NM_138385		1719363	-1	tier1	-	no_errors	ENST00000382936	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.988	T	T	1719363	G	T	1719363	2	4	87	1	0	0	0	0	0	0	0	1	16089	1161	41	3		3	TMEM129	4	1719363	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	734100	1719363	189434913	468	23592											
HAUS3	79441	genome.wustl.edu	37	chr4	2242634	2242634	+	Frame_Shift_Del	DEL	T	T	-																															atcagctttgggataaccaaTtttttttaatgtttccacaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:2242634delT	ENST00000243706.4	-	2	269	c.40delA	c.(40-42)attfs	p.I14fs	HAUS3_ENST00000506763.1_Frame_Shift_Del_p.I14fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Frame_Shift_Del_p.I14fs	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	14					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGATAACCAATTTTTTTTAAT	0.353																																																	0													64	64	64					4																	2242634		2203	4300	6503	SO:0001589	frameshift_variant	0			AF040964	CCDS33941.1	4p16.3	2013-10-11	2009-04-20	2009-04-20	ENSG00000214367	ENSG00000214367		"HAUS augmin-like complex subunits"	28719	protein-coding gene	gene with protein product		613430	"chromosome 4 open reading frame 15"	C4orf15		19427217, 19812674	Standard	NM_024511		Approved	MGC4701, IT1, dgt3	uc003ges.1	Q68CZ6		ENST00000243706.4:c.40delA	4.37:g.2242634delT	ENSP00000243706:p.Ile14fs		B4DF64|O43606|Q8TAZ5|Q9BTJ9	Frame_Shift_Del	DEL	NULL	p.I14fs	ENST00000243706.4	37	c.40	CCDS33941.1	4																																																																																			HAUS3	-	NULL	ENSG00000214367		0.353	HAUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS3	HGNC	protein_coding	OTTHUMT00000357446.1		0	44	0	T	NM_024511		2242634	-1	tier1		no_errors	ENST00000243706	ensembl	human	known	74_37	frame_shift_del	13.64	38	6	DEL	1.000	-	-	2242634	T	-	2242634	7	5	87	1	0	1	0	1	0	0	0	0	6994	1493	52	0	1787	0	HAUS3	4	2242634	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	523271	2242634	188911642	469	23593											
FAM193A	8603	genome.wustl.edu	37	chr4	2695555	2695555	+	Frame_Shift_Del	DEL	C	C	-																															gtttctgtcctgcacccctaCccccggccacagatggctcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:2695555delC	ENST00000324666.5	+	14	2524	c.2173delC	c.(2173-2175)cccfs	p.P726fs	FAM193A_ENST00000505311.1_Frame_Shift_Del_p.P726fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.P726fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.P748fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.P726fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	726										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGCACCCCTACCCCCGGCCAC	0.557																																																	0													93	89	90					4																	2695555		2203	4300	6503	SO:0001589	frameshift_variant	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2173delC	4.37:g.2695555delC	ENSP00000324587:p.Pro726fs		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Frame_Shift_Del	DEL	NULL	p.P726fs	ENST00000324666.5	37	c.2173	CCDS58875.1	4																																																																																			FAM193A	-	NULL	ENSG00000125386		0.557	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1		0	50	0	C	NM_003704		2695555	1	tier1		no_errors	ENST00000324666	ensembl	human	known	74_37	frame_shift_del	21.62	29	8	DEL	0.084	-	-	2695555	C	-	2695555	7	5	87	1	0	1	0	1	0	0	0	0	5543	507	18	0	2219	0	FAM193A	4	2695555	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	452921	2695555	188458721	470	23594											
EVC2	132884	genome.wustl.edu	37	chr4	5624385	5624385	+	Frame_Shift_Del	DEL	C	C	-																															ctggtccctgtccctctcctCcccctccagctgctcggccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:5624385delC	ENST00000344408.5	-	14	2433	c.2380delG	c.(2380-2382)gagfs	p.E795fs	EVC2_ENST00000310917.2_Frame_Shift_Del_p.E715fs|EVC2_ENST00000344938.1_Frame_Shift_Del_p.E795fs	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	795					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCTCTCCTCCCCCTCCAGC	0.662																																																	0													71	50	57					4																	5624385		2203	4300	6503	SO:0001589	frameshift_variant	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2380delG	4.37:g.5624385delC	ENSP00000342144:p.Glu795fs		Q86YT3|Q86YT4|Q8NG49	Frame_Shift_Del	DEL	pfam_Limbin	p.E794fs	ENST00000344408.5	37	c.2380	CCDS3382.2	4																																																																																			EVC2	-	NULL	ENSG00000173040		0.662	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2		0	35	0	C	NM_147127		5624385	-1	tier1		no_errors	ENST00000344408	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	0.994	-	-	5624385	C	-	5624385	7	5	87	1	0	1	0	1	0	0	0	0	5302	864	30	0	1582	0	EVC2	4	5624385	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	2928830	5624385	185529891	471	23595											
EVC	2121	genome.wustl.edu	37	chr4	5809991	5809991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcagatgcgtctgcaCgcccagcagcagcaggcagg	10	3	13	15	2	1	1	0	0	1	1	1	1	1	1	2	2	6	6	2	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:5809991C>T	ENST00000264956.6	+	18	2809	c.2625C>T	c.(2623-2625)caC>caT	p.H875H	EVC_ENST00000382674.2_Silent_p.H875H	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	875					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCGTCTGCACGCCCAGCAGC	0.607																																																	0													57	52	54					4																	5809991		2203	4300	6503	SO:0001819	synonymous_variant	0			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2625C>T	4.37:g.5809991C>T				Silent	SNP	NULL	p.H875	ENST00000264956.6	37	c.2625	CCDS3383.1	4																																																																																			EVC	-	NULL	ENSG00000072840		0.607	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	-	0	49	0	C			5809991	1	tier1	-	no_errors	ENST00000264956	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.000	T	T	5809991	C	T	5809991	2	4	87	1	0	0	0	0	0	0	0	1	5301	535	19	1		1	EVC	4	5809991	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	185606	5809991	185344285	472	23596											
TADA2B	93624	genome.wustl.edu	37	chr4	7056451	7056451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagagtacgaggcagcGcggcataaacgggagaagag	13	3	17	8	5	0	3	0	0	0	3	1	5	0	3	0	4	3	4	0	4	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:7056451G>A	ENST00000310074.7	+	2	1122	c.933G>A	c.(931-933)gcG>gcA	p.A311A	TADA2B_ENST00000515646.1_Silent_p.A219A|TADA2B_ENST00000512388.1_Silent_p.A236A	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	311					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ACGAGGCAGCGCGGCATAAAC	0.562																																																	0													54	64	61					4																	7056451		2034	4175	6209	SO:0001819	synonymous_variant	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.933G>A	4.37:g.7056451G>A			A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.A311	ENST00000310074.7	37	c.933	CCDS47007.1	4																																																																																			TADA2B	-	pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.562	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0	21	0	G	NM_152293		7056451	1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	silent	21.74	18	5	SNP	0.005	A	A	7056451	G	A	7056451	2	1	87	1	0	0	0	0	0	0	0	1	15558	1074	38	1		1	TADA2B	4	7056451	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1246460	7056451	184097825	473	23597											
SORCS2	57537	genome.wustl.edu	37	chr4	7725564	7725564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgtccgtcagggcagaGaacacggcaggccacgatga	10	4	15	12	5	1	2	1	1	0	1	2	4	2	2	2	3	1	2	2	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:7725564G>T	ENST00000507866.2	+	19	2674	c.2565G>T	c.(2563-2565)gaG>gaT	p.E855D	SORCS2_ENST00000329016.9_Missense_Mutation_p.E683D	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	855	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCAGGGCAGAGAACACGGCAG	0.587																																																	0													63	64	64					4																	7725564		2049	4188	6237	SO:0001583	missense	0			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2565G>T	4.37:g.7725564G>T	ENSP00000422185:p.Glu855Asp		Q9P2L7	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.E855D	ENST00000507866.2	37	c.2565	CCDS47008.1	4	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288673	0.23478	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.61510	0.1;0.1	2.82	1.93	0.25924	PKD/Chitinase domain (1);PKD domain (4);	0.196102	0.34088	U	0.004268	T	0.63896	0.2550	L	0.52126	1.63	0.45621	D	0.998559	D;D	0.61697	0.99;0.99	D;D	0.77004	0.989;0.989	T	0.59579	-0.7428	10	0.28530	T	0.3	.	8.2185	0.31528	0.2742:0.0:0.7258:0.0	.	683;855	B5MED8;Q96PQ0	.;SORC2_HUMAN	D	855;683	ENSP00000422185:E855D;ENSP00000329124:E683D	ENSP00000329124:E683D	E	+	3	2	SORCS2	7776464	1.000000	0.71417	0.988000	0.46212	0.105000	0.19272	3.885000	0.56182	1.420000	0.47138	0.467000	0.42956	GAG	SORCS2	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	ENSG00000184985		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	-	0	37	0	G	NM_020777		7725564	1	tier1	-	no_errors	ENST00000507866	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	T	T	7725564	G	T	7725564	3	4	87	1	0	0	0	0	1	0	0	0	14976	933	33	3	2639	3	SORCS2	4	7725564	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	669113	7725564	183428712	474	23598											
AFAP1	60312	genome.wustl.edu	37	chr4	7776485	7776485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgttcacttcaatagcCgctcgaaggtcttttctttc	6	14	8	13	4	4	0	2	0	2	0	6	1	4	0	2	2	1	2	2	2	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:7776485C>T	ENST00000360265.4	-	13	2025	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000358461.2_Silent_p.A597A|AFAP1_ENST00000420658.1_Silent_p.A681A|AFAP1_ENST00000382543.3_Silent_p.A681A			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	597	Interaction with F-actin. {ECO:0000250}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCAATAGCCGCTCGAAGGT	0.542																																																	0													63	64	63					4																	7776485		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1791G>A	4.37:g.7776485C>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A681	ENST00000360265.4	37	c.2043	CCDS3397.1	4																																																																																			AFAP1	-	NULL	ENSG00000196526		0.542	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0	79	0	C	NM_021638		7776485	-1	tier1	-	no_errors	ENST00000420658	ensembl	human	known	74_37	silent	8.22	67	6	SNP	0.000	T	T	7776485	C	T	7776485	2	4	87	1	0	0	0	0	0	0	0	1	353	639	23	1		1	AFAP1	4	7776485	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	50921	7776485	183377791	475	23599											
SLC2A9	56606	genome.wustl.edu	37	chr4	9922179	9922179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggaaacgtctgctttacCcaagaacgtttggaaggctg	10	11	12	8	2	1	1	0	0	1	1	1	3	1	3	1	3	4	3	1	3	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:9922179C>T	ENST00000264784.3	-	7	885	c.832G>A	c.(832-834)Ggt>Agt	p.G278S	RP13-560N11.1_ENST00000504249.1_RNA|SLC2A9_ENST00000309065.3_Missense_Mutation_p.G249S|SLC2A9_ENST00000506583.1_Missense_Mutation_p.G249S	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	278					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	TCTGCTTTACCCAAGAACGTT	0.582																																																	0													52	46	48					4																	9922179		2203	4300	6503	SO:0001583	missense	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.832G>A	4.37:g.9922179C>T	ENSP00000264784:p.Gly278Ser		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.G278S	ENST00000264784.3	37	c.832	CCDS3407.1	4	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590672	0.66219	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065	T;T;T	0.76968	-1.06;-1.06;-1.06	4.9	4.9	0.64082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	M	0.91038	3.17	0.53688	D	0.999977	D;D	0.65815	0.995;0.987	D;D	0.67103	0.915;0.949	D	0.92092	0.5681	9	.	.	.	.	17.4309	0.87539	0.0:1.0:0.0:0.0	.	249;278	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	S	249;278;249	ENSP00000422209:G249S;ENSP00000264784:G278S;ENSP00000311383:G249S	.	G	-	1	0	SLC2A9	9531277	1.000000	0.71417	0.965000	0.40720	0.018000	0.09664	7.062000	0.76706	2.427000	0.82271	0.650000	0.86243	GGT	SLC2A9	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000109667		0.582	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	HGNC	protein_coding	OTTHUMT00000207055.1	-	0	29	0	C			9922179	-1	tier1	-	no_errors	ENST00000264784	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T	T	9922179	C	T	9922179	3	4	87	1	0	0	0	0	1	0	0	0	14597	623	22	3	814	3	SLC2A9	4	9922179	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2145694	9922179	181232097	476	23600											
BOD1L	259282	genome.wustl.edu	37	chr4	13601800	13601800	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccatgactgtgccagctcGctcattttcactttcaacaa	9	14	5	13	1	3	1	3	1	0	0	5	1	4	1	2	0	3	2	2	0	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:13601800G>A	ENST00000040738.5	-	10	6859	c.6724C>T	c.(6724-6726)Cga>Tga	p.R2242*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2242						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTGCCAGCTCGCTCATTTTCA	0.502																																																	0													85	72	76					4																	13601800		2203	4300	6503	SO:0001587	stop_gained	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6724C>T	4.37:g.13601800G>A	ENSP00000040738:p.Arg2242*		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	NULL	p.R2242*	ENST00000040738.5	37	c.6724	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	45	11.430887	0.99560	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.05	3.3	0.37823	.	1.670650	0.03954	N	0.288916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.0326	6.3527	0.21385	0.1721:0.2306:0.5973:0.0	.	.	.	.	X	2242	.	ENSP00000040738:R2242X	R	-	1	2	BOD1L	13210898	0.003000	0.15002	0.001000	0.08648	0.028000	0.11728	1.318000	0.33643	1.124000	0.41980	0.650000	0.86243	CGA	BOD1L1	-	NULL	ENSG00000038219		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	58	0	G	NM_148894		13601800	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	nonsense	16.67	45	9	SNP	0.000	A	A	13601800	G	A	13601800	4	1	87	1	0	0	0	0	0	1	0	0	1485	1095	38	1	2499	1	BOD1L	4	13601800	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3679621	13601800	177552476	477	23601											
LCORL	254251	genome.wustl.edu	37	chr4	18023330	18023330	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggcggcggcggcAgcagcggcggcggcagcggc	3	0	24	14	10	0	0	0	0	0	0	0	0	0	0	0	10	3	3	0	10	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:18023330A>G	ENST00000382226.5	-	1	153	c.45T>C	c.(43-45)gcT>gcC	p.A15A	LCORL_ENST00000326877.4_Silent_p.A15A|LCORL_ENST00000539056.1_5'UTR|LCORL_ENST00000512376.2_5'UTR|LCORL_ENST00000382224.1_5'Flank	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	15	Ala-rich.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						cggcggcggcagcagcggcgg	0.701																																																	0													2	3	3					4																	18023330		1079	2487	3566	SO:0001819	synonymous_variant	0				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.45T>C	4.37:g.18023330A>G			Q96NK1	Silent	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.A15	ENST00000382226.5	37	c.45	CCDS54749.1	4																																																																																			LCORL	-	NULL	ENSG00000178177		0.701	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	HGNC	protein_coding		-	0	18	0	A	NM_153686		18023330	-1	tier1	-	no_errors	ENST00000382226	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.996	G	G	18023330	A	G	18023330	2	3	87	1	0	0	0	0	0	0	0	1	8718	175	7	4		4	LCORL	4	18023330	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4421530	18023330	173130946	478	23602											
SLIT2	9353	genome.wustl.edu	37	chr4	20255565	20255565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacagtggactgtcacGggctggcgctgcgcagcgtg	6	6	17	12	4	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:20255565G>A	ENST00000504154.1	+	1	379	c.127G>A	c.(127-129)Ggg>Agg	p.G43R	SLIT2_ENST00000273739.5_Missense_Mutation_p.G43R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G43R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G43R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	43	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.G43R(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGACTGTCACGGGCTGGCGCT	0.667																																																	1	Substitution - Missense(1)	lung(1)											93	79	84					4																	20255565		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.127G>A	4.37:g.20255565G>A	ENSP00000422591:p.Gly43Arg		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.G43R	ENST00000504154.1	37	c.127	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.179606	0.94846	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09	3.85	3.85	0.44370	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	L	0.45137	1.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97349	0.9962	10	0.59425	D	0.04	.	15.8964	0.79338	0.0:0.0:1.0:0.0	.	43;43	O94813-3;O94813	.;SLIT2_HUMAN	R	43	ENSP00000427548:G43R;ENSP00000422591:G43R;ENSP00000273739:G43R;ENSP00000422261:G43R	ENSP00000273739:G43R	G	+	1	0	SLIT2	19864663	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.773000	0.91762	2.130000	0.65690	0.313000	0.20887	GGG	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000145147		0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	63	0	G			20255565	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	20.34	47	12	SNP	1.000	A	A	20255565	G	A	20255565	3	1	87	1	0	0	0	0	1	0	0	0	14785	1116	39	1	129	1	SLIT2	4	20255565	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2232235	20255565	170898711	479	23603											
PPARGC1A	10891	genome.wustl.edu	37	chr4	23797449	23797449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctagggaacatgttacCtgcgcaagcttctctgagct	9	11	10	11	1	2	1	1	1	1	0	3	2	2	2	1	1	6	5	1	1	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:23797449C>T	ENST00000264867.2	-	13	2512	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	798	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AACATGTTACCTGCGCAAGCT	0.453																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													110	98	102					4																	23797449		2203	4300	6503	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"RNA binding motif (RRM) containing"	9237	protein-coding gene	gene with protein product		604517	"peroxisome proliferative activated receptor, gamma, coactivator 1", "peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2393G>A	4.37:g.23797449C>T	ENSP00000264867:p.Arg798Lys		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R798K	ENST00000264867.2	37	c.2393	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727315	0.89390	.	.	ENSG00000109819	ENST00000264867	T	0.34072	1.38	5.42	5.42	0.78866	.	0.043766	0.85682	D	0.000000	T	0.55146	0.1902	L	0.54323	1.7	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.49312	-0.8953	10	0.44086	T	0.13	-8.4089	19.5823	0.95473	0.0:1.0:0.0:0.0	.	798	Q9UBK2	PRGC1_HUMAN	K	798	ENSP00000264867:R798K	ENSP00000264867:R798K	R	-	2	0	PPARGC1A	23406547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.695000	0.91970	0.655000	0.94253	AGG	PPARGC1A	-	NULL	ENSG00000109819		0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	-	0	36	0	C	NM_013261		23797449	-1	tier1	-	no_errors	ENST00000264867	ensembl	human	known	74_37	missense	25.00	30	10	SNP	1.000	T	T	23797449	C	T	23797449	3	4	87	1	0	0	0	0	1	0	0	0	12339	681	24	3	7	3	PPARGC1A	4	23797449	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3541884	23797449	167356827	480	23604											
ZCCHC4	29063	genome.wustl.edu	37	chr4	25335610	25335610	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattggatattgattttcGgtaggtttacaaaatacagt	12	18	8	3	1	0	1	0	1	0	0	1	2	0	2	0	3	2	2	0	3	7	11	rs577915732		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:25335610G>T	ENST00000302874.4	+	5	710	c.686G>T	c.(685-687)cGg>cTg	p.R229L	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	229							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ATTGATTTTCGGTAGGTTTAC	0.313																																																	0													101	97	98					4																	25335610		1814	4078	5892	SO:0001630	splice_region_variant	0			AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"Zinc fingers, CCHC domain containing"	22917	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 4"	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.686+1G>T	4.37:g.25335610G>T			B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_N6_adenine_Mtase-rel_euk,pfscan_Znf_DHHC_palmitoyltrfase	p.R229L	ENST00000302874.4	37	c.686	CCDS43218.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731057	0.89390	.	.	ENSG00000168228	ENST00000302874	T	0.60171	0.21	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.79896	0.4525	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82410	-0.0471	10	0.72032	D	0.01	-5.5879	19.5833	0.95478	0.0:0.0:1.0:0.0	.	229	Q9H5U6	ZCHC4_HUMAN	L	229	ENSP00000303468:R229L	ENSP00000303468:R229L	R	+	2	0	ZCCHC4	24944708	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.808000	0.91939	2.703000	0.92315	0.655000	0.94253	CGG	ZCCHC4	-	pfam_N6_adenine_Mtase-rel_euk	ENSG00000168228		0.313	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC4	HGNC	protein_coding	OTTHUMT00000361151.1	-	0	74	0	G		Missense_Mutation	25335610	1	tier1	-	no_errors	ENST00000302874	ensembl	human	known	74_37	missense	25.00	47	16	SNP	1.000	T	T	25335610	G	T	25335610	5	4	87	1	0	0	0	0	0	0	1	0	17638	1130	39	2	704	2	ZCCHC4	4	25335610	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1538161	25335610	165818666	481	23605											
SEL1L3	23231	genome.wustl.edu	37	chr4	25831751	25831751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgtggtagcttttcaaatCctgtccaatgctagtggtta	9	16	9	7	0	1	0	1	0	0	0	3	0	3	0	2	2	2	4	2	2	5	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:25831751C>A	ENST00000399878.3	-	6	1248	c.1126G>T	c.(1126-1128)Gat>Tat	p.D376Y	SEL1L3_ENST00000513364.1_5'Flank|SEL1L3_ENST00000264868.5_Missense_Mutation_p.D341Y|SEL1L3_ENST00000502949.1_Missense_Mutation_p.D223Y	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	376						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTTCAAATCCTGTCCAATG	0.388																																																	0													130	123	125					4																	25831751		1909	4129	6038	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1126G>T	4.37:g.25831751C>A	ENSP00000382767:p.Asp376Tyr		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.D376Y	ENST00000399878.3	37	c.1126	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	15.96	2.985569	0.53934	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.17370	2.28;2.28;2.28	5.51	5.51	0.81932	.	0.353818	0.33591	N	0.004745	T	0.31358	0.0794	L	0.51422	1.61	0.43536	D	0.995824	D	0.69078	0.997	P	0.57679	0.825	T	0.01202	-1.1420	10	0.87932	D	0	-21.8645	14.9183	0.70815	0.0:1.0:0.0:0.0	.	376	Q68CR1	SE1L3_HUMAN	Y	376;341;223	ENSP00000382767:D376Y;ENSP00000264868:D341Y;ENSP00000425438:D223Y	ENSP00000264868:D341Y	D	-	1	0	SEL1L3	25440849	1.000000	0.71417	0.728000	0.30774	0.392000	0.30506	2.749000	0.47492	2.575000	0.86900	0.655000	0.94253	GAT	SEL1L3	-	superfamily_ConA-like_lec_gl_sf	ENSG00000091490		0.388	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	-	0	100	0	C	NM_015187		25831751	-1	tier1	-	no_errors	ENST00000399878	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.997	A	A	25831751	C	A	25831751	3	1	87	1	0	0	0	0	1	0	0	0	14057	855	30	3	2348	3	SEL1L3	4	25831751	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	496141	25831751	165322525	482	23606											
CCKAR	886	genome.wustl.edu	37	chr4	26490891	26490891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgcaaacggcgctccCgaagatgaaatccttgagca	11	8	11	11	3	1	3	0	2	1	1	3	4	3	3	2	2	3	3	2	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:26490891C>T	ENST00000295589.3	-	2	522	c.328G>A	c.(328-330)Ggg>Agg	p.G110R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	110					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACGGCGCTCCCGAAGATGAAA	0.557																																																	0													159	145	150					4																	26490891		2203	4300	6503	SO:0001583	missense	0			L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"GPCR / Class A : Cholecystokinin receptors"	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.328G>A	4.37:g.26490891C>T	ENSP00000295589:p.Gly110Arg		B2R9Z5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt	p.G110R	ENST00000295589.3	37	c.328	CCDS3438.1	4	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569207	0.86439	.	.	ENSG00000163394	ENST00000295589	T	0.50548	0.74	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90099	0.4183	10	0.87932	D	0	.	18.8514	0.92232	0.0:1.0:0.0:0.0	.	110	P32238	CCKAR_HUMAN	R	110	ENSP00000295589:G110R	ENSP00000295589:G110R	G	-	1	0	CCKAR	26099989	1.000000	0.71417	0.917000	0.36280	0.690000	0.40134	7.487000	0.81328	2.445000	0.82738	0.561000	0.74099	GGG	CCKAR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_Gastrin_rcpt	ENSG00000163394		0.557	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKAR	HGNC	protein_coding	OTTHUMT00000250418.2	-	0	30	0	C			26490891	-1	tier1	-	no_errors	ENST00000295589	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	T	T	26490891	C	T	26490891	3	4	87	1	0	0	0	0	1	0	0	0	2887	652	23	1	974	1	CCKAR	4	26490891	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	659140	26490891	164663385	483	23607											
ARAP2	116984	genome.wustl.edu	37	chr4	36212182	36212182	+	Frame_Shift_Del	DEL	T	T	-																															acggagtccaaaatcaaggcTttttgagtcctagatttaga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:36212182delT	ENST00000303965.4	-	6	1806	c.1317delA	c.(1315-1317)aaafs	p.K439fs		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	439					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAATCAAGGCTTTTTGAGTCC	0.383																																																	0													141	143	142					4																	36212182		2203	4300	6503	SO:0001589	frameshift_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1317delA	4.37:g.36212182delT	ENSP00000302895:p.Lys439fs		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.A440fs	ENST00000303965.4	37	c.1317	CCDS3441.1	4																																																																																			ARAP2	-	NULL	ENSG00000047365		0.383	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2		0	64	0	T	NM_015230		36212182	-1	tier1		no_errors	ENST00000303965	ensembl	human	known	74_37	frame_shift_del	17.95	64	14	DEL	0.982	-	-	36212182	T	-	36212182	7	5	87	1	0	1	0	1	0	0	0	0	839	1606	56	0	3909	0	ARAP2	4	36212182	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	9721291	36212182	154942094	484	23608											
C4orf19	55286	genome.wustl.edu	37	chr4	37592205	37592205	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagttttgccttggaagtAcaagaccatgtcttccagat	12	12	9	8	0	1	2	0	0	1	2	2	4	2	3	3	1	2	2	3	1	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:37592205A>G	ENST00000284437.6	+	3	706	c.528A>G	c.(526-528)gtA>gtG	p.V176V	C4orf19_ENST00000381980.4_Silent_p.V176V|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	176										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CCTTGGAAGTACAAGACCATG	0.493																																																	0													72	75	74					4																	37592205		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.528A>G	4.37:g.37592205A>G			Q9NV03	Silent	SNP	NULL	p.V176	ENST00000284437.6	37	c.528	CCDS3442.1	4																																																																																			C4orf19	-	NULL	ENSG00000154274		0.493	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf19	HGNC	protein_coding	OTTHUMT00000250432.1	-	0	23	0	A	NM_018302		37592205	1	tier1	-	no_errors	ENST00000284437	ensembl	human	known	74_37	silent	17.86	23	5	SNP	0.000	G	G	37592205	A	G	37592205	2	3	87	1	0	0	0	0	0	0	0	1	2260	378	14	4		4	C4orf19	4	37592205	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1380023	37592205	153562071	485	23609											
TBC1D1	23216	genome.wustl.edu	37	chr4	38020002	38020002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgaagtttacctcatcAgtcctgacaccaaaaaaata	16	10	5	10	0	3	2	2	2	1	0	4	2	4	2	3	0	1	1	3	0	6	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:38020002A>G	ENST00000261439.4	+	4	1265	c.910A>G	c.(910-912)Agt>Ggt	p.S304G	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S304G	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	304	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTACCTCATCAGTCCTGACAC	0.313																																																	0													71	75	74					4																	38020002		2203	4298	6501	SO:0001583	missense	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.910A>G	4.37:g.38020002A>G	ENSP00000261439:p.Ser304Gly		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.S304G	ENST00000261439.4	37	c.910	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	A	28.6	4.932954	0.92458	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000446803	T;T;T	0.15139	2.45;2.45;2.45	5.86	5.86	0.93980	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000003	T	0.46210	0.1381	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.49390	-0.8945	10	0.87932	D	0	-18.2502	16.2526	0.82494	1.0:0.0:0.0:0.0	.	304;304;304	B9A6J6;E9PGH8;Q86TI0	.;.;TBCD1_HUMAN	G	304;304;175	ENSP00000423651:S304G;ENSP00000261439:S304G;ENSP00000396877:S175G	ENSP00000261439:S304G	S	+	1	0	TBC1D1	37696397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.223000	0.95203	2.241000	0.73720	0.482000	0.46254	AGT	TBC1D1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000065882		0.313	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	-	0	41	0	A	NM_015173		38020002	1	tier1	-	no_errors	ENST00000261439	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	G	G	38020002	A	G	38020002	3	3	87	1	0	0	0	0	1	0	0	0	15644	188	7	4	920	4	TBC1D1	4	38020002	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	427797	38020002	153134274	486	23610											
KLF3	51274	genome.wustl.edu	37	chr4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-																															ccttcttccagcccaccgatAaaaaaatactcacccccttc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:38690460delA	ENST00000261438.5	+	3	617	c.312delA	c.(310-312)atafs	p.I104fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.I104fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GCCCACCGATAAAAAAATACT	0.617																																																	0													69	70	69					4																	38690460		2203	4300	6503	SO:0001589	frameshift_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	16516	protein-coding gene	gene with protein product	"basic Kruppel-like factor"	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.312delA	4.37:g.38690460delA	ENSP00000261438:p.Ile104fs		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K106fs	ENST00000261438.5	37	c.312	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.617	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2		0	34	0	A			38690460	1	tier1		no_errors	ENST00000261438	ensembl	human	known	74_37	frame_shift_del	26.19	31	11	DEL	0.008	-	-	38690460	A	-	38690460	7	5	87	1	0	1	0	1	0	0	0	0	8374	352	13	0	318	0	KLF3	4	38690460	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	670458	38690460	152463816	487	23611											
UGDH	7358	genome.wustl.edu	37	chr4	39505575	39505575	+	Frame_Shift_Del	DEL	T	T	-																															gataaaggctggctttagcaTttttttatgaatgcgttcat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:39505575delT	ENST00000316423.6	-	11	1636	c.1294delA	c.(1294-1296)atgfs	p.M432fs	UGDH_ENST00000507089.1_Frame_Shift_Del_p.M335fs|UGDH_ENST00000506179.1_Frame_Shift_Del_p.M432fs|UGDH_ENST00000501493.2_Frame_Shift_Del_p.M365fs	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	432					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GGCTTTAGCATTTTTTTATGA	0.453																																																	0													96	92	94					4																	39505575		2203	4300	6503	SO:0001589	frameshift_variant	0			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1294delA	4.37:g.39505575delT	ENSP00000319501:p.Met432fs		B3KUU2|B4DN25|O60589	Frame_Shift_Del	DEL	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.M432fs	ENST00000316423.6	37	c.1294	CCDS3455.1	4																																																																																			UGDH	-	pfam_UDP-Glc/GDP-Man_DH_C,superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_UDP-Glc/GDP-Man	ENSG00000109814		0.453	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3		0	32	0	T	NM_003359		39505575	-1	tier1		no_errors	ENST00000316423	ensembl	human	known	74_37	frame_shift_del	17.14	29	6	DEL	1.000	-	-	39505575	T	-	39505575	7	5	87	1	0	1	0	1	0	0	0	0	16989	1493	52	0	198	0	UGDH	4	39505575	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	815115	39505575	151648701	488	23612											
NSUN7	79730	genome.wustl.edu	37	chr4	40810420	40810420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgggtaaatcatcaaaaCgggagaagaagaagaaaaaa	22	5	11	3	1	2	4	2	0	0	4	2	5	2	4	0	2	1	2	0	2	10	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:40810420C>T	ENST00000381782.2	+	12	2116	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	541							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.R541W(1)		NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATCATCAAAACGGGAGAAGAA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											89	74	78					4																	40810420		692	1591	2283	SO:0001583	missense	0			BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"NOP2/Sun domain containing"	25857	protein-coding gene	gene with protein product			"NOL1/NOP2/Sun domain family, member 7"			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.1621C>T	4.37:g.40810420C>T	ENSP00000371201:p.Arg541Trp		C9JI19|Q8N9K8|Q9H815	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p	p.R541W	ENST00000381782.2	37	c.1621	CCDS3461.2	4	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705929	0.68615	.	.	ENSG00000179299	ENST00000381782	T	0.05025	3.51	5.07	0.793	0.18632	.	0.356115	0.23766	N	0.044762	T	0.16214	0.0390	L	0.57536	1.79	0.58432	D	0.999999	D	0.89917	1.0	D	0.69654	0.965	T	0.00593	-1.1654	10	0.72032	D	0.01	-6.2504	9.0805	0.36550	0.5628:0.2348:0.2024:0.0	.	541	Q8NE18	NSUN7_HUMAN	W	541	ENSP00000371201:R541W	ENSP00000371201:R541W	R	+	1	2	NSUN7	40505177	0.962000	0.33011	0.854000	0.33618	0.977000	0.68977	0.040000	0.13905	0.250000	0.21479	0.591000	0.81541	CGG	NSUN7	-	NULL	ENSG00000179299		0.448	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN7	HGNC	protein_coding	OTTHUMT00000250454.2		0	68	0	C	NM_024677		40810420	1			no_errors	ENST00000381782	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.948	T	T	40810420	C	T	40810420	3	4	87	1	0	0	0	0	1	0	0	0	10722	527	19	1	1663	1	NSUN7	4	40810420	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1304845	40810420	150343856	489	23613											
KCTD8	386617	genome.wustl.edu	37	chr4	44449818	44449818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagacctccttggccagcgcGatgcgcccgcacaccatgat	9	6	10	16	4	0	2	0	1	0	1	1	3	1	2	5	1	2	1	5	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:44449818G>A	ENST00000360029.3	-	1	1006	c.723C>T	c.(721-723)atC>atT	p.I241I	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	241					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.I241I(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGGCCAGCGCGATGCGCCCGC	0.667										HNSCC(17;0.042)																																							1	Substitution - coding silent(1)	lung(1)											33	27	29					4																	44449818		2202	4298	6500	SO:0001819	synonymous_variant	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.723C>T	4.37:g.44449818G>A			A2RU39	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.I241	ENST00000360029.3	37	c.723	CCDS3467.1	4																																																																																			KCTD8	-	NULL	ENSG00000183783		0.667	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0	26	0	G			44449818	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	silent	21.05	15	4	SNP	1.000	A	A	44449818	G	A	44449818	2	1	87	1	0	0	0	0	0	0	0	1	8142	1048	37	1		1	KCTD8	4	44449818	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3639398	44449818	146704458	490	23614											
KCTD8	386617	genome.wustl.edu	37	chr4	44450294	44450294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgccccggcgccgggCgccgccacggggactagagg	5	2	17	17	7	0	1	0	0	0	1	1	2	0	2	5	5	1	1	5	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:44450294C>T	ENST00000360029.3	-	1	530	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	83	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						cggcgccgggcgccgccACGG	0.652										HNSCC(17;0.042)																																							0													9	10	10					4																	44450294		2048	4093	6141	SO:0001583	missense	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.247G>A	4.37:g.44450294C>T	ENSP00000353129:p.Ala83Thr		A2RU39	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.A83T	ENST00000360029.3	37	c.247	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	C	13.90	2.373701	0.42105	.	.	ENSG00000183783	ENST00000360029	T	0.38240	1.15	3.59	2.74	0.32292	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.49305	D	0.000154	T	0.21145	0.0509	N	0.24115	0.695	0.29740	N	0.837175	B	0.19817	0.039	B	0.06405	0.002	T	0.12243	-1.0555	10	0.27785	T	0.31	.	8.5164	0.33248	0.0:0.881:0.0:0.119	.	83	Q6ZWB6	KCTD8_HUMAN	T	83	ENSP00000353129:A83T	ENSP00000353129:A83T	A	-	1	0	KCTD8	44145051	0.858000	0.29795	0.999000	0.59377	0.972000	0.66771	0.242000	0.18087	0.694000	0.31654	0.467000	0.42956	GCC	KCTD8	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000183783		0.652	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0	16	0	C			44450294	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	missense	37.50	10	6	SNP	1.000	T	T	44450294	C	T	44450294	3	4	87	1	0	0	0	0	1	0	0	0	8142	768	27	1	1182	1	KCTD8	4	44450294	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	476	44450294	146703982	491	23615											
GABRA2	2555	genome.wustl.edu	37	chr4	46314639	46314639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccagattttgctagccAttaaattgtttagtcgaagg	11	14	10	6	1	0	1	0	0	0	1	2	3	1	1	2	1	2	2	2	1	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:46314639A>G	ENST00000510861.1	-	5	523	c.350T>C	c.(349-351)aTg>aCg	p.M117T	GABRA2_ENST00000540012.1_Missense_Mutation_p.M62T|GABRA2_ENST00000356504.1_Missense_Mutation_p.M117T|GABRA2_ENST00000515082.1_Missense_Mutation_p.M117T|GABRA2_ENST00000381620.4_Missense_Mutation_p.M117T|GABRA2_ENST00000514090.1_Missense_Mutation_p.M117T|GABRA2_ENST00000507069.1_Missense_Mutation_p.M117T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	117					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TTTGCTAGCCATTAAATTGTT	0.318																																																	0													67	71	70					4																	46314639		2203	4300	6503	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4076	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 2"	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.350T>C	4.37:g.46314639A>G	ENSP00000421828:p.Met117Thr		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M62T	ENST00000510861.1	37	c.185	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022427	0.75275	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85885	0.5801	M	0.81802	2.56	0.80722	D	1	P;P;P	0.51240	0.943;0.823;0.757	P;B;P	0.54759	0.76;0.431;0.497	D	0.87853	0.2659	10	0.87932	D	0	.	15.5881	0.76502	1.0:0.0:0.0:0.0	.	62;117;117	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	T	117;117;117;117;62;117;117;117;117	ENSP00000421828:M117T;ENSP00000421300:M117T;ENSP00000371033:M117T;ENSP00000348897:M117T;ENSP00000444409:M62T;ENSP00000427603:M117T;ENSP00000423840:M117T;ENSP00000424362:M117T;ENSP00000424093:M117T	ENSP00000348897:M117T	M	-	2	0	GABRA2	46009396	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.272000	0.75746	0.460000	0.39030	ATG	GABRA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000151834		0.318	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0	67	0	A			46314639	-1	tier1	-	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	33.75	53	27	SNP	1.000	G	G	46314639	A	G	46314639	3	3	87	1	0	0	0	0	1	0	0	0	6185	217	8	4	1029	4	GABRA2	4	46314639	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1864345	46314639	144839637	492	23616											
GABRA4	2557	genome.wustl.edu	37	chr4	46967130	46967130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactcgataagggccgaaaAtacaaaagcaaagcagacag	21	3	9	8	2	0	1	0	0	0	1	1	3	0	1	1	1	4	2	1	1	8	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:46967130A>G	ENST00000264318.3	-	8	1973	c.991T>C	c.(991-993)Ttt>Ctt	p.F331L		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	331					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGGCCGAAAATACAAAAGCA	0.463																																					Ovarian(6;283 369 8234 12290 33402)												0													142	126	131					4																	46967130		2203	4300	6503	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.991T>C	4.37:g.46967130A>G	ENSP00000264318:p.Phe331Leu		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.F331L	ENST00000264318.3	37	c.991	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	A	33	5.205541	0.95033	.	.	ENSG00000109158	ENST00000264318	D	0.87029	-2.2	4.81	4.81	0.61882	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	M	0.81802	2.56	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.93896	0.7184	10	0.87932	D	0	.	13.6942	0.62567	1.0:0.0:0.0:0.0	.	331	P48169	GBRA4_HUMAN	L	331	ENSP00000264318:F331L	ENSP00000264318:F331L	F	-	1	0	GABRA4	46661887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.008000	0.58898	0.482000	0.46254	TTT	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000109158		0.463	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	-	0	62	0	A			46967130	-1	tier1	-	no_errors	ENST00000264318	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	G	G	46967130	A	G	46967130	3	3	87	1	0	0	0	0	1	0	0	0	6187	101	4	4	681	4	GABRA4	4	46967130	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	652491	46967130	144187146	493	23617											
OCIAD1	54940	genome.wustl.edu	37	chr4	48851983	48851983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcttgtatcatgggataCtttgctggaaaactttctta	9	17	9	6	0	2	0	1	0	1	0	2	2	2	2	0	2	4	4	0	2	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:48851983C>T	ENST00000381473.3	+	6	679	c.261C>T	c.(259-261)taC>taT	p.Y87Y	OCIAD1_ENST00000425583.2_Silent_p.Y87Y|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000513391.2_Silent_p.Y87Y|OCIAD1_ENST00000506801.1_Silent_p.Y33Y|OCIAD1_ENST00000444354.2_Silent_p.Y87Y|OCIAD1_ENST00000396448.2_Silent_p.Y87Y|OCIAD1_ENST00000264312.7_Silent_p.Y87Y|OCIAD1_ENST00000509122.1_Silent_p.Y60Y|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.Y87Y	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	87	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TCATGGGATACTTTGCTGGAA	0.333																																																	0													59	65	63					4																	48851983		2203	4300	6503	SO:0001819	synonymous_variant	0			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.261C>T	4.37:g.48851983C>T			C9K030|G8JLN7|Q9BZE8	Silent	SNP	pfam_OCIA	p.Y87	ENST00000381473.3	37	c.261	CCDS3484.1	4																																																																																			OCIAD1	-	pfam_OCIA	ENSG00000109180		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	-	0	72	0	C	NM_017830		48851983	1	tier1	-	no_errors	ENST00000264312	ensembl	human	known	74_37	silent	28.17	51	20	SNP	1.000	T	T	48851983	C	T	48851983	2	4	87	1	0	0	0	0	0	0	0	1	10856	576	20	3		3	OCIAD1	4	48851983	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1884853	48851983	142302293	494	23618											
CWH43	80157	genome.wustl.edu	37	chr4	48994006	48994006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgttcttgttgttctacGcatatggtatacttcactaa	9	18	7	7	1	3	0	1	0	2	0	3	1	3	0	0	1	2	5	0	1	5	11			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:48994006G>A	ENST00000226432.4	+	4	593	c.410G>A	c.(409-411)cGc>cAc	p.R137H	CWH43_ENST00000513409.1_Missense_Mutation_p.R110H	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	137					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.R137H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTGTTCTACGCATATGGTAT	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											189	171	177					4																	48994006		2203	4300	6503	SO:0001583	missense	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.410G>A	4.37:g.48994006G>A	ENSP00000226432:p.Arg137His		B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.R137H	ENST00000226432.4	37	c.410	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179912	0.78564	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.52295	1.26;0.67	5.42	4.58	0.56647	.	0.000000	0.56097	D	0.000021	T	0.65015	0.2651	M	0.67953	2.075	0.39571	D	0.969276	D	0.89917	1.0	D	0.91635	0.999	T	0.67639	-0.5619	9	.	.	.	.	12.8683	0.57951	0.075:0.0:0.925:0.0	.	137	Q9H720	PG2IP_HUMAN	H	137;110	ENSP00000226432:R137H;ENSP00000422802:R110H	.	R	+	2	0	CWH43	48688763	0.874000	0.30092	0.997000	0.53966	0.976000	0.68499	3.520000	0.53465	1.531000	0.49152	0.491000	0.48974	CGC	CWH43	-	NULL	ENSG00000109182		0.373	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2		0	43	0	G	NM_025087		48994006	1			no_errors	ENST00000226432	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.987	A	A	48994006	G	A	48994006	3	1	87	1	0	0	0	0	1	0	0	0	4082	1087	38	1	424	1	CWH43	4	48994006	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	142023	48994006	142160270	495	23619											
CWH43	80157	genome.wustl.edu	37	chr4	49063827	49063827	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttattttttatttttttAgatttggatcctacaaagaa	12	22	4	3	0	0	2	0	0	0	2	1	3	1	3	1	1	1	0	1	1	7	12			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:49063827A>T	ENST00000226432.4	+	16	2204		c.e16-1		CWH43_ENST00000513409.1_Splice_Site	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)						GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ttatttttttaGATTTGGATC	0.234																																																	0													14	14	14					4																	49063827		2130	4159	6289	SO:0001630	splice_region_variant	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.2022-1A>T	4.37:g.49063827A>T			B2RPD7	Splice_Site	SNP	-	e16-2	ENST00000226432.4	37	c.2022-2	CCDS3486.1	4																																																																																			CWH43	-	-	ENSG00000109182		0.234	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	-	0	103	0	A	NM_025087	Intron	49063827	1	tier1	-	no_errors	ENST00000226432	ensembl	human	known	74_37	splice_site	37.78	55	34	SNP	0.993	T	T	49063827	A	T	49063827	5	4	87	1	0	0	0	0	0	0	1	0	4082	434	15	5	2082	5	CWH43	4	49063827	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	69821	49063827	142090449	496	23620											
GSX2	170825	genome.wustl.edu	37	chr4	54966885	54966885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcccgcgggtgaaccatgCgcatcatcaccaccacccgc	8	6	9	18	4	2	1	2	1	0	0	2	1	2	1	5	1	3	1	5	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:54966885C>T	ENST00000326902.2	+	1	688	c.374C>T	c.(373-375)gCg>gTg	p.A125V	AC110298.1_ENST00000408292.1_RNA|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	125	Poly-His.				forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTGAACCATGCGcatcatcac	0.711																																																	0													9	7	8					4																	54966885		1731	3217	4948	SO:0001583	missense	0				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"Homeoboxes / ANTP class : HOXL subclass"	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.374C>T	4.37:g.54966885C>T	ENSP00000319118:p.Ala125Val			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A125V	ENST00000326902.2	37	c.374	CCDS3494.1	4	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801102	0.31869	.	.	ENSG00000180613	ENST00000326902	D	0.90788	-2.73	4.1	4.1	0.47936	.	0.512237	0.20854	N	0.084473	T	0.80560	0.4646	N	0.14661	0.345	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.67059	-0.5766	10	0.31617	T	0.26	.	9.4555	0.38751	0.0:0.8975:0.0:0.1025	.	125	Q9BZM3	GSX2_HUMAN	V	125	ENSP00000319118:A125V	ENSP00000319118:A125V	A	+	2	0	GSX2	54661642	0.998000	0.40836	0.997000	0.53966	0.867000	0.49689	1.151000	0.31651	2.288000	0.76882	0.491000	0.48974	GCG	GSX2	-	NULL	ENSG00000180613		0.711	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSX2	HGNC	protein_coding	OTTHUMT00000250595.1	-	0	40	0	C	NM_133267		54966885	1	tier1	-	no_errors	ENST00000326902	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.004	T	T	54966885	C	T	54966885	3	4	87	1	0	0	0	0	1	0	0	0	6877	768	27	1	376	1	GSX2	4	54966885	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5903058	54966885	136187391	497	23621											
KIAA1211	57482	genome.wustl.edu	37	chr4	57181235	57181235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaaggtggaggagctgCggtggcaggaggtggacgag	8	4	22	7	3	0	0	0	0	0	0	0	5	0	4	1	8	2	3	1	8	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57181235C>T	ENST00000504228.1	+	6	1672	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R523W|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R516W			Q6ZU35	K1211_HUMAN	KIAA1211	523	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GGAGGAGCTGCGGTGGCAGGA	0.632																																																	0													14	20	18					4																	57181235		2083	4205	6288	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1567C>T	4.37:g.57181235C>T	ENSP00000423366:p.Arg523Trp		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.R523W	ENST00000504228.1	37	c.1567	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475378	0.26511	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02446	4.29;4.29;4.29	4.34	-0.443	0.12249	.	.	.	.	.	T	0.12050	0.0293	M	0.71581	2.175	0.29747	N	0.836672	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.02184	-1.1199	9	0.87932	D	0	-29.1997	11.4754	0.50295	0.3126:0.6024:0.0:0.085	.	516;516;523	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	W	523;523;516;433	ENSP00000264229:R523W;ENSP00000423366:R523W;ENSP00000444006:R516W	ENSP00000264229:R523W	R	+	1	2	KIAA1211	56875992	0.005000	0.15991	0.105000	0.21289	0.073000	0.16967	0.148000	0.16224	-0.254000	0.09500	-1.108000	0.02087	CGG	KIAA1211	-	NULL	ENSG00000109265		0.632	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	0	45	0	C	NM_020722		57181235	1	tier1	-	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.072	T	T	57181235	C	T	57181235	3	4	87	1	0	0	0	0	1	0	0	0	8242	759	27	1	1585	1	KIAA1211	4	57181235	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2214350	57181235	133973041	498	23622											
KIAA1211	57482	genome.wustl.edu	37	chr4	57181940	57181941	+	Frame_Shift_Ins	INS	-	-	C																															gggacccagcgaagagacagINSccccccagcctcctcctgct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57181940_57181941insC	ENST00000504228.1	+	6	2377_2378	c.2272_2273insC	c.(2272-2274)gccfs	p.A758fs	KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.A758fs|KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.A751fs			Q6ZU35	K1211_HUMAN	KIAA1211	758										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGAAGAGACAGCCCCCCAGCCT	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2278dupC	4.37:g.57181946_57181946dupC	ENSP00000423366:p.Ala758fs		Q9NTE2|Q9NTP8|Q9ULK9	Frame_Shift_Ins	INS	NULL	p.Q760fs	ENST00000504228.1	37	c.2272_2273	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.594	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2		0	53	0	-	NM_020722		57181941	1	tier1		no_errors	ENST00000504228	ensembl	human	known	74_37	frame_shift_ins	13.95	37	6	INS	0.000:0.000	C	C	57181941	-	C	57181940	7	5	87	1	0	1	1	0	0	0	0	0	8242	971	34	0	2290	0	KIAA1211	4	57181940	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	705	57181940	133972336	499	23623											
AASDH	132949	genome.wustl.edu	37	chr4	57248651	57248652	+	Frame_Shift_Ins	INS	-	-	T																															tccagacttacattaatttgINSttttttttcaacaaggatat																								rs376463919		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57248651_57248652insT	ENST00000205214.6	-	3	522_523	c.342_343insA	c.(340-345)aaacaafs	p.Q115fs	AASDH_ENST00000602986.1_Intron|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Frame_Shift_Ins_p.Q115fs|AASDH_ENST00000451613.1_Frame_Shift_Ins_p.Q115fs|AASDH_ENST00000513376.1_Frame_Shift_Ins_p.Q15fs|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	115					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				ACATTAATTTGTTTTTTTTCAA	0.337																																																	0										10,4256		0,10,2123						5.9	0.9			42	17,8237		0,17,4110	no	frameshift	AASDH	NM_181806.2		0,27,6233	A1A1,A1R,RR		0.206,0.2344,0.2157				27,12493				SO:0001589	frameshift_variant	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"Acyl-CoA synthetase family"	23993	protein-coding gene	gene with protein product	"acyl-CoA synthetase family member 4"	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.343dupA	4.37:g.57248659_57248659dupT	ENSP00000205214:p.Gln115fs		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Frame_Shift_Ins	INS	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.Q114fs	ENST00000205214.6	37	c.343_342	CCDS3504.1	4																																																																																			AASDH	-	pfam_AMP-dep_Synth/Lig	ENSG00000157426		0.337	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1		0	36	0	-	NM_181806		57248652	-1	tier1		no_errors	ENST00000205214	ensembl	human	known	74_37	frame_shift_ins	36.21	37	21	INS	0.961:0.960	T	T	57248652	-	T	57248651	7	5	87	1	0	1	1	0	0	0	0	0	22	1386	48	0	3005	0	AASDH	4	57248651	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	66711	57248651	133905625	500	23624											
HOPX	84525	genome.wustl.edu	37	chr4	57522048	57522048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcctcggaaaggcctGcctcggccgcgatgaggcac	6	7	12	16	4	1	1	0	1	1	0	5	3	2	2	5	4	1	1	5	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57522048G>T	ENST00000337881.7	-	2	775	c.119C>A	c.(118-120)gCa>gAa	p.A40E	HOPX_ENST00000420433.1_Missense_Mutation_p.A58E|HOPX_ENST00000508121.1_Missense_Mutation_p.A58E|HOPX_ENST00000555760.2_Missense_Mutation_p.A40E|HOPX_ENST00000381255.3_Missense_Mutation_p.A40E|HOPX_ENST00000553379.2_Missense_Mutation_p.A40E|HOPX_ENST00000556614.2_Missense_Mutation_p.A40E|HOPX_ENST00000503639.3_Missense_Mutation_p.A40E|HOPX_ENST00000381260.3_Missense_Mutation_p.A40E|HOPX_ENST00000554144.1_Missense_Mutation_p.A58E|HOPX_ENST00000317745.7_Missense_Mutation_p.A40E|HOPX_ENST00000556376.2_Missense_Mutation_p.A40E	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	40					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GGAAAGGCCTGCCTCGGCCGC	0.672																																																	0													76	68	70					4																	57522048		2203	4300	6503	SO:0001583	missense	0				CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"Homeoboxes / PRD class"	24961	protein-coding gene	gene with protein product	"homeobox only domain"	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.119C>A	4.37:g.57522048G>T	ENSP00000337330:p.Ala40Glu		A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.A58E	ENST00000337881.7	37	c.173	CCDS3507.1	4	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425329	0.43020	.	.	ENSG00000171476	ENST00000420433;ENST00000554144;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381260;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000503864;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000509435;ENST00000514890;ENST00000506661;ENST00000557328	D;D;D;D;D;D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93;-3.93	4.67	3.6	0.41247	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.325320	0.29964	N	0.010754	D	0.95433	0.8517	L	0.47716	1.5	0.32085	N	0.592665	D;D;B	0.69078	0.997;0.99;0.411	D;P;B	0.64877	0.93;0.856;0.172	D	0.94225	0.7471	10	0.59425	D	0.04	-23.7941	8.6305	0.33917	0.1259:0.0:0.8741:0.0	.	58;58;40	G3V294;E9PB55;Q9BPY8	.;.;HOP_HUMAN	E	58;58;58;40;40;40;40;40;40;40;40;40;40;40;40;40;40	ENSP00000396275:A58E;ENSP00000422175:A58E;ENSP00000451794:A40E;ENSP00000452340:A40E;ENSP00000370654:A40E;ENSP00000315198:A40E;ENSP00000424101:A40E;ENSP00000337330:A40E;ENSP00000452098:A40E;ENSP00000452003:A40E	ENSP00000315198:A40E	A	-	2	0	HOPX	57216805	1.000000	0.71417	0.996000	0.52242	0.429000	0.31625	3.770000	0.55310	2.128000	0.65567	0.491000	0.48974	GCA	HOPX	-	superfamily_Homeodomain-like	ENSG00000171476		0.672	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HOPX	HGNC	protein_coding	OTTHUMT00000250689.4	-	0	53	0	G			57522048	-1	tier1	-	no_errors	ENST00000554144	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.966	T	T	57522048	G	T	57522048	3	4	87	1	0	0	0	0	1	0	0	0	7312	1319	46	3	244	3	HOPX	4	57522048	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	273397	57522048	133632228	501	23625											
POLR2B	5431	genome.wustl.edu	37	chr4	57877007	57877007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaatttttagaagaaTggagtatggaaaatttagaa	16	14	10	1	0	1	3	0	0	1	3	1	6	1	6	0	3	0	1	0	3	9	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:57877007T>C	ENST00000381227.1	+	13	2055	c.1642T>C	c.(1642-1644)Tgg>Cgg	p.W548R	POLR2B_ENST00000441246.2_Missense_Mutation_p.W541R|POLR2B_ENST00000314595.5_Missense_Mutation_p.W548R|POLR2B_ENST00000431623.2_Missense_Mutation_p.W473R|POLR2B_ENST00000510355.1_3'UTR			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	548					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTAGAAGAATGGAGTATGGA	0.343																																																	0													78	84	82					4																	57877007		2201	4299	6500	SO:0001583	missense	0				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"RNA polymerase subunits"	9188	protein-coding gene	gene with protein product		180661	"polymerase (RNA) II (DNA directed) polypeptide B (140kD)"			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1642T>C	4.37:g.57877007T>C	ENSP00000370625:p.Trp548Arg		A8K1A8|Q8IZ61	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.W548R	ENST00000381227.1	37	c.1642	CCDS3511.1	4	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609615	0.66558	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.80065	0.4555	L	0.50993	1.605	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.59948	0.866;0.866	T	0.76578	-0.2908	10	0.22706	T	0.39	.	16.0502	0.80755	0.0:0.0:0.0:1.0	.	473;548	C9J4M6;P30876	.;RPB2_HUMAN	R	548;473;541;548	ENSP00000370625:W548R;ENSP00000391096:W473R;ENSP00000391452:W541R;ENSP00000312735:W548R	ENSP00000312735:W548R	W	+	1	0	POLR2B	57571764	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.844000	0.86867	2.197000	0.70478	0.528000	0.53228	TGG	POLR2B	-	NULL	ENSG00000047315		0.343	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	-	0	37	0	T	NM_000938		57877007	1	tier1	-	no_errors	ENST00000314595	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	C	C	57877007	T	C	57877007	3	2	87	1	0	0	0	0	1	0	0	0	12254	1464	51	4	1688	4	POLR2B	4	57877007	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	354959	57877007	133277269	502	23626											
TECRL	253017	genome.wustl.edu	37	chr4	65155449	65155449	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtgattgggatgagacaAcattacattgatgaaatgat	14	13	11	3	0	0	5	0	5	0	1	0	7	0	6	0	1	2	0	0	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:65155449A>G	ENST00000381210.3	-	9	921	c.811T>C	c.(811-813)Ttg>Ctg	p.L271L	TECRL_ENST00000507440.1_Silent_p.L271L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	271					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GGATGAGACAACATTACATTG	0.274																																																	0													66	64	65					4																	65155449		2203	4297	6500	SO:0001819	synonymous_variant	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.811T>C	4.37:g.65155449A>G				Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.L271	ENST00000381210.3	37	c.811	CCDS33990.1	4																																																																																			TECRL	-	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	ENSG00000205678		0.274	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	41	0	A	NM_001010874		65155449	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.058	G	G	65155449	A	G	65155449	2	3	87	1	0	0	0	0	0	0	0	1	15793	40	2	4		4	TECRL	4	65155449	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	7278442	65155449	125998827	503	23627											
UBA6	55236	genome.wustl.edu	37	chr4	68530907	68530907	+	Splice_Site	DEL	A	A	-																															gccgaaaaaaaaatacttacAaaaaaaactgttttaggagt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:68530907delA	ENST00000322244.5	-	10	956	c.897delT	c.(895-897)ttt>tt	p.F299fs	UBA6_ENST00000420827.2_Splice_Site_p.F299fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	299					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AAATACTTACAAAAAAAACTG	0.323																																																	0													42	46	45					4																	68530907		2198	4296	6494	SO:0001630	splice_region_variant	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"Ubiquitin-like modifier activating enzymes"	25581	protein-coding gene	gene with protein product	"UBA6, ubiquitin-activating enzyme E1"	611361	"ubiquitin-activating enzyme E1-like 2"	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.897+1T>-	4.37:g.68530907delA			A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Frame_Shift_Del	DEL	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.F299fs	ENST00000322244.5	37	c.897	CCDS3516.1	4																																																																																			UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.323	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2		0	100	0	A	NM_018227	Frame_Shift_Del	68530907	-1	tier1		no_errors	ENST00000322244	ensembl	human	known	74_37	frame_shift_del	17.57	61	13	DEL	1.000	-	-	68530907	A	-	68530907	8	5	87	1	0	1	0	1	0	0	1	0	16881	144	5	0	2357	0	UBA6	4	68530907	Splice_Site	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	3375458	68530907	122623369	504	23628											
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68780360	68780360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacagaacattccaggtttTatatcattgccatacacctg	12	12	6	11	0	1	1	1	0	0	1	2	1	2	1	3	1	3	2	3	1	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:68780360T>C	ENST00000334830.7	-	9	1796	c.1050A>G	c.(1048-1050)atA>atG	p.I350M	TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.I346M|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.I347M			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	350	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTCCAGGTTTTATATCATTGC	0.378																																					NSCLC(26;2 894 10941 14480 22546)												0													137	130	132					4																	68780360		2203	4300	6503	SO:0001583	missense	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.1050A>G	4.37:g.68780360T>C	ENSP00000334611:p.Ile350Met		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I350M	ENST00000334830.7	37	c.1050	CCDS3519.1	4	.	.	.	.	.	.	.	.	.	.	T	13.22	2.170825	0.38315	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	5.93	3.31	0.37934	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000007	D	0.93334	0.7875	M	0.78456	2.415	0.36413	D	0.863848	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94845	0.8008	10	0.87932	D	0	.	10.8834	0.46953	0.0:0.0:0.2995:0.7005	.	347;350	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	M	346;350;347;314	ENSP00000426911:I346M;ENSP00000334611:I350M;ENSP00000379491:I347M;ENSP00000427621:I314M	ENSP00000334611:I350M	I	-	3	3	TMPRSS11A	68462955	0.638000	0.27225	0.976000	0.42696	0.085000	0.17905	-0.220000	0.09215	1.035000	0.39972	0.482000	0.46254	ATA	TMPRSS11A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1	ENSG00000187054		0.378	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	-	0	68	0	T	NM_182606		68780360	-1	tier1	-	no_errors	ENST00000334830	ensembl	human	known	74_37	missense	27.42	45	17	SNP	0.994	C	C	68780360	T	C	68780360	3	2	87	1	0	0	0	0	1	0	0	0	16286	1744	61	4	223	4	TMPRSS11A	4	68780360	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	249453	68780360	122373916	505	23629											
ANKRD17	26057	genome.wustl.edu	37	chr4	73957694	73957694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaactgtggaggaggatatGctaatggaagagaaactgga	16	7	14	4	0	0	1	0	0	0	1	0	7	0	6	0	5	3	1	0	5	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:73957694G>A	ENST00000358602.4	-	29	5767	c.5651C>T	c.(5650-5652)gCa>gTa	p.A1884V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.A1771V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.A1633V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1884					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGAGGATATGCTAATGGAAG	0.473																																																	0													157	159	158					4																	73957694		2203	4300	6503	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"Ankyrin repeat domain containing"	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5651C>T	4.37:g.73957694G>A	ENSP00000351416:p.Ala1884Val		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.A1884V	ENST00000358602.4	37	c.5651	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995818	0.74703	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.71698	-0.57;-0.56;-0.59	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000006	D	0.82273	0.5001	L	0.54323	1.7	0.52099	D	0.999942	D;D;D;D	0.67145	0.996;0.996;0.993;0.993	D;D;D;D	0.77557	0.99;0.99;0.978;0.978	T	0.83349	-0.0004	10	0.87932	D	0	.	19.4978	0.95081	0.0:0.0:1.0:0.0	.	1883;1633;1884;1771	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	1884;1291;1633;1771;268	ENSP00000351416:A1884V;ENSP00000332265:A1633V;ENSP00000427151:A1771V	ENSP00000332265:A1633V	A	-	2	0	ANKRD17	74176558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.617000	0.88574	0.467000	0.42956	GCA	ANKRD17	-	NULL	ENSG00000132466		0.473	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	-	0	55	0	G	NM_032217		73957694	-1	tier1	-	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A	A	73957694	G	A	73957694	3	1	87	1	0	0	0	0	1	0	0	0	646	1319	46	3	2184	3	ANKRD17	4	73957694	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5177334	73957694	117196582	506	23630											
RCHY1	25898	genome.wustl.edu	37	chr4	76407852	76407852	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaactgaacagtggatcGtccattacagtcattgcaga	14	10	9	8	1	1	3	1	2	0	1	3	4	2	4	1	1	4	1	1	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:76407852G>A	ENST00000324439.5	-	9	1080	c.682C>T	c.(682-684)Cga>Tga	p.R228*	RCHY1_ENST00000380840.2_Nonsense_Mutation_p.R188*|RCHY1_ENST00000513257.1_Nonsense_Mutation_p.R219*|RCHY1_ENST00000512706.1_Nonsense_Mutation_p.R206*|RCHY1_ENST00000451788.1_3'UTR	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	228					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R228*(1)		large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGTGGATCGTCCATTACAG	0.338																																																	1	Substitution - Nonsense(1)	large_intestine(1)											89	86	87					4																	76407852		2203	4300	6503	SO:0001587	stop_gained	0			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.682C>T	4.37:g.76407852G>A	ENSP00000321239:p.Arg228*		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Nonsense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R228*	ENST00000324439.5	37	c.682	CCDS3567.1	4	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680204	0.88542	.	.	ENSG00000163743	ENST00000324439;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	.	.	.	5.87	3.04	0.35103	.	0.054275	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-19.7569	4.8148	0.13362	0.1777:0.0:0.4283:0.394	.	.	.	.	X	228;188;206;219;179	.	ENSP00000321239:R228X	R	-	1	2	RCHY1	76626876	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	3.867000	0.56047	0.300000	0.22699	0.650000	0.86243	CGA	RCHY1	-	NULL	ENSG00000163743		0.338	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2	-	0	40	0	G	NM_015436		76407852	-1	tier1	-	no_errors	ENST00000324439	ensembl	human	known	74_37	nonsense	32.61	31	15	SNP	0.994	A	A	76407852	G	A	76407852	4	1	87	1	0	0	0	0	0	1	0	0	13222	1153	40	1	107	1	RCHY1	4	76407852	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2450158	76407852	114746424	507	23631											
FGF5	2250	genome.wustl.edu	37	chr4	81196142	81196142	+	Frame_Shift_Del	DEL	A	A	-																															aacaaatttttagcgatgtcAaaaaaaggaaaactccatgc																								rs35667286		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:81196142delA	ENST00000312465.7	+	2	661	c.435delA	c.(433-435)tcafs	p.S145fs	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	145					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TAGCGATGTCAAAAAAAGGAA	0.328																																																	0													79	79	79					4																	81196142		2203	4300	6503	SO:0001589	frameshift_variant	0			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"Endogenous ligands"	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.435delA	4.37:g.81196142delA	ENSP00000311697:p.Ser145fs		B2R554|O75846|Q3Y8M3|Q8NF90	Frame_Shift_Del	DEL	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.G148fs	ENST00000312465.7	37	c.435	CCDS34021.1	4																																																																																			FGF5	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000138675		0.328	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2		0	60	0	A			81196142	1	tier1		no_errors	ENST00000312465	ensembl	human	known	74_37	frame_shift_del	19.23	42	10	DEL	1.000	-	-	81196142	A	-	81196142	7	5	87	1	0	1	0	1	0	0	0	0	5877	117	5	0	441	0	FGF5	4	81196142	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	4788290	81196142	109958134	508	23632											
PRKG2	5593	genome.wustl.edu	37	chr4	82061765	82061765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctgcttggtgtcaactAtgtgcttcttccttatacac	6	16	7	12	0	2	0	1	0	1	0	3	0	3	0	2	1	5	3	2	1	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:82061765A>G	ENST00000395578.1	-	12	1582	c.1466T>C	c.(1465-1467)aTa>aCa	p.I489T	PRKG2_ENST00000418486.2_Missense_Mutation_p.I460T|PRKG2_ENST00000545647.1_Missense_Mutation_p.I69T|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.I489T			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	489	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GGTGTCAACTATGTGCTTCTT	0.388																																																	0													170	150	157					4																	82061765		2203	4300	6503	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1466T>C	4.37:g.82061765A>G	ENSP00000378945:p.Ile489Thr		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.I489T	ENST00000395578.1	37	c.1466	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	A	21.0	4.080339	0.76528	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.149639	0.56097	D	0.000021	T	0.75413	0.3846	L	0.53561	1.675	0.58432	D	0.999996	D;D	0.69078	0.997;0.984	D;D	0.71414	0.973;0.955	T	0.77539	-0.2550	10	0.87932	D	0	-23.8938	16.1396	0.81513	1.0:0.0:0.0:0.0	.	460;489	E7EPE6;Q13237	.;KGP2_HUMAN	T	489;489;460;69	ENSP00000378945:I489T;ENSP00000264399:I489T;ENSP00000389038:I460T;ENSP00000439967:I69T	ENSP00000264399:I489T	I	-	2	0	PRKG2	82280789	1.000000	0.71417	0.948000	0.38648	0.606000	0.37113	9.231000	0.95317	2.288000	0.76882	0.528000	0.53228	ATA	PRKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom	ENSG00000138669		0.388	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0	24	0	A	NM_006259		82061765	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.999	G	G	82061765	A	G	82061765	3	3	87	1	0	0	0	0	1	0	0	0	12565	449	16	4	854	4	PRKG2	4	82061765	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	865623	82061765	109092511	509	23633											
SCD5	79966	genome.wustl.edu	37	chr4	83582061	83582061	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggacacagaaagagcacGcagcatcaagcagcactttt	15	5	10	11	1	1	2	1	0	0	2	1	3	1	3	0	1	4	5	0	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:83582061G>T	ENST00000319540.4	-	3	889				SCD5_ENST00000273908.4_Missense_Mutation_p.R247S	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GAAAGAGCACGCAGCATCAAG	0.448																																																	0													157	151	153					4																	83582061		2203	4300	6503	SO:0001627	intron_variant	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.569+19798C>A	4.37:g.83582061G>T			B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.R247S	ENST00000319540.4	37	c.739	CCDS34024.1	4	.	.	.	.	.	.	.	.	.	.	G	7.216	0.596489	0.13875	.	.	ENSG00000145284	ENST00000273908	.	.	.	3.92	0.238	0.15480	.	.	.	.	.	T	0.28333	0.0700	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.17098	0.017	T	0.29701	-1.0003	7	0.87932	D	0	.	3.9205	0.09242	0.2963:0.1819:0.5218:0.0	.	247	Q86SK9-2	.	S	247	.	ENSP00000273908:R247S	R	-	1	0	SCD5	83801085	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.041000	0.13927	0.008000	0.14787	0.585000	0.79938	CGT	SCD5	-	NULL	ENSG00000145284		0.448	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	-	0	93	0	G	NM_024906		83582061	-1	tier1	-	no_errors	ENST00000273908	ensembl	human	known	74_37	missense	32.26	42	20	SNP	0.000	T	T	83582061	G	T	83582061	1	4	87	0	1	0	0	0	0	0	0	0	13932	1087	38	2		2	SCD5	4	83582061	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1520296	83582061	107572215	510	23634											
SCD5	79966	genome.wustl.edu	37	chr4	83601945	83601945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataacatctcgatgcttgcGaacaaacagccacccaatat	16	8	5	12	2	1	0	0	0	1	0	2	2	1	0	2	0	6	1	2	0	6	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:83601945G>A	ENST00000319540.4	-	3	803	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	SCD5_ENST00000273908.4_Missense_Mutation_p.R162C	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	162					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CGATGCTTGCGAACAAACAGC	0.547																																																	0													115	116	116					4																	83601945		2203	4300	6503	SO:0001583	missense	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"Fatty acid desaturases"	21088	protein-coding gene	gene with protein product		608370	"stearoyl-CoA desaturase 4"	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.484C>T	4.37:g.83601945G>A	ENSP00000316329:p.Arg162Cys		B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.R162C	ENST00000319540.4	37	c.484	CCDS34024.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305453	0.81247	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.14516	2.5;2.5	5.27	4.43	0.53597	Fatty acid desaturase, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.66638	-0.5873	10	0.87932	D	0	-10.4342	14.3888	0.66963	0.0717:0.0:0.9283:0.0	.	162;162	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	C	162	ENSP00000316329:R162C;ENSP00000273908:R162C	ENSP00000273908:R162C	R	-	1	0	SCD5	83820969	1.000000	0.71417	0.955000	0.39395	0.764000	0.43329	6.519000	0.73768	1.435000	0.47434	0.467000	0.42956	CGC	SCD5	-	pfam_Fatty_acid_desaturase-1	ENSG00000145284		0.547	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1		0	38	0	G	NM_024906		83601945	-1			no_errors	ENST00000319540	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	A	A	83601945	G	A	83601945	3	1	87	1	0	0	0	0	1	0	0	0	13932	1058	37	1	726	1	SCD5	4	83601945	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	19884	83601945	107552331	511	23635											
HELQ	113510	genome.wustl.edu	37	chr4	84374915	84374915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagtaaggttgcctatggTagtaatgctgagtttgtttt	8	18	11	4	0	1	1	1	1	0	0	1	1	1	1	1	2	2	7	1	2	4	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:84374915T>C	ENST00000295488.3	-	2	643	c.481A>G	c.(481-483)Acc>Gcc	p.T161A	MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.T161A|MRPS18C_ENST00000507019.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	161					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTGCCTATGGTAGTAATGCTG	0.378								Other identified genes with known or suspected DNA repair function																																									0													225	218	220					4																	84374915		2203	4300	6503	SO:0001583	missense	0			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.481A>G	4.37:g.84374915T>C	ENSP00000295488:p.Thr161Ala		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T161A	ENST00000295488.3	37	c.481	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436282	0.25813	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.65364	0.14;-0.15	5.23	-5.34	0.02705	.	1.064380	0.07263	N	0.867787	T	0.42810	0.1219	L	0.38531	1.155	0.09310	N	1	B;B;B;B	0.12013	0.001;0.004;0.005;0.001	B;B;B;B	0.09377	0.001;0.003;0.004;0.001	T	0.37454	-0.9705	10	0.08179	T	0.78	-36.6236	8.3199	0.32124	0.0:0.41:0.3862:0.2038	.	161;161;124;161	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	A	161	ENSP00000295488:T161A;ENSP00000424539:T161A	ENSP00000295488:T161A	T	-	1	0	HELQ	84593939	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.665000	0.00848	-1.186000	0.02713	-1.094000	0.02160	ACC	HELQ	-	NULL	ENSG00000163312		0.378	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	-	0	57	0	T	NM_133636		84374915	-1	tier1	-	no_errors	ENST00000295488	ensembl	human	known	74_37	missense	11.83	82	11	SNP	0.000	C	C	84374915	T	C	84374915	3	2	87	1	0	0	0	0	1	0	0	0	7074	1638	57	4	2892	4	HELQ	4	84374915	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	772970	84374915	106779361	512	23636											
WDFY3	23001	genome.wustl.edu	37	chr4	85781626	85781626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttctgagtcatgtgcCggggaggatggcacaactcc	7	10	13	11	1	2	1	1	1	1	0	4	3	4	3	3	4	2	2	3	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:85781626C>T	ENST00000295888.4	-	4	526	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R40Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	40					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R40Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCATGTGCCGGGGAGGATG	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)											139	128	132					4																	85781626		2203	4300	6503	SO:0001583	missense	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.119G>A	4.37:g.85781626C>T	ENSP00000295888:p.Arg40Gln		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R40Q	ENST00000295888.4	37	c.119	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	16.57	3.158851	0.57368	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000509172	T;T	0.62788	-0.0;-0.0	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	N	0.01352	-0.895	0.80722	D	1	B;B	0.29552	0.248;0.248	B;B	0.12837	0.008;0.008	T	0.36866	-0.9730	10	0.15952	T	0.53	.	19.8968	0.96969	0.0:1.0:0.0:0.0	.	40;40	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	Q	40	ENSP00000318466:R40Q;ENSP00000295888:R40Q	ENSP00000295888:R40Q	R	-	2	0	WDFY3	86000650	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.591000	0.82666	2.691000	0.91804	0.655000	0.94253	CGG	WDFY3	-	NULL	ENSG00000163625		0.567	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2		0	38	0	C	NM_014991		85781626	-1			no_errors	ENST00000295888	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	85781626	C	T	85781626	3	4	87	1	0	0	0	0	1	0	0	0	17319	652	23	1	10764	1	WDFY3	4	85781626	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1406711	85781626	105372650	513	23637											
TIGD2	166815	genome.wustl.edu	37	chr4	90034766	90034766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcatcattatgtgttGcgcaaatgccacaggtttac	12	12	9	8	1	2	1	2	0	0	1	2	2	2	1	1	1	3	3	1	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:90034766G>A	ENST00000317005.2	+	1	799	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	214	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ATTATGTGTTGCGCAAATGCC	0.428																																																	0													75	79	77					4																	90034766		2203	4300	6503	SO:0001583	missense	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.641G>A	4.37:g.90034766G>A	ENSP00000317170:p.Cys214Tyr			Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.C214Y	ENST00000317005.2	37	c.641	CCDS3633.1	4	.	.	.	.	.	.	.	.	.	.	g	15.83	2.948519	0.53186	.	.	ENSG00000180346	ENST00000317005	T	0.53640	0.61	3.97	3.97	0.46021	.	0.000000	0.43110	U	0.000612	T	0.67979	0.2951	M	0.79614	2.46	0.37662	D	0.92279	D	0.89917	1.0	D	0.91635	0.999	T	0.76599	-0.2900	10	0.87932	D	0	-3.7275	13.666	0.62396	0.0:0.0:1.0:0.0	.	214	Q4W5G0	TIGD2_HUMAN	Y	214	ENSP00000317170:C214Y	ENSP00000317170:C214Y	C	+	2	0	TIGD2	90253789	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.152000	0.71812	2.070000	0.61991	0.546000	0.68486	TGC	TIGD2	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000180346		0.428	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2		0	49	0	G	NM_145715		90034766	1			no_errors	ENST00000317005	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	A	A	90034766	G	A	90034766	3	1	87	1	0	0	0	0	1	0	0	0	15943	1319	46	3	643	3	TIGD2	4	90034766	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4253140	90034766	101119510	514	23638											
RAP1GDS1	5910	genome.wustl.edu	37	chr4	99363154	99363154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccagaatgtctacacaaGgaagtacaggatttggcttt	12	12	9	8	0	1	1	0	0	1	1	2	3	2	3	1	3	2	2	1	3	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:99363154G>A	ENST00000408927.3	+	15	1823	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K	RAP1GDS1_ENST00000339360.5_Silent_p.K571K|RAP1GDS1_ENST00000380158.4_Silent_p.K522K|RAP1GDS1_ENST00000264572.7_Silent_p.K479K|RAP1GDS1_ENST00000453712.2_Silent_p.K570K|RAP1GDS1_ENST00000408900.3_Silent_p.K521K	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	570					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GTCTACACAAGGAAGTACAGG	0.378			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0													68	68	68					4																	99363154		1875	4107	5982	SO:0001819	synonymous_variant	0				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1710G>A	4.37:g.99363154G>A			E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K571	ENST00000408927.3	37	c.1713	CCDS43253.1	4																																																																																			RAP1GDS1	-	superfamily_ARM-type_fold	ENSG00000138698		0.378	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	-	0	43	0	G	NM_001100426		99363154	1	tier1	-	no_errors	ENST00000339360	ensembl	human	known	74_37	silent	18.37	40	9	SNP	1.000	A	A	99363154	G	A	99363154	2	1	87	1	0	0	0	0	0	0	0	1	13084	991	35	3		3	RAP1GDS1	4	99363154	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	9328388	99363154	91791122	515	23639											
ADH6	130	genome.wustl.edu	37	chr4	100131401	100131401	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgatatattgatttTcccttgcaggtaaacctgct	11	14	7	9	0	0	2	0	2	0	0	1	2	1	2	3	1	3	3	3	1	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:100131401T>C	ENST00000237653.7	-	5	789	c.405A>G	c.(403-405)ggA>ggG	p.G135G	ADH6_ENST00000394899.2_Silent_p.G135G|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_Silent_p.G135G|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	135					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATATTGATTTTCCCTTGCAGG	0.368																																																	0													97	95	96					4																	100131401		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"Alcohol dehydrogenases"	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.405A>G	4.37:g.100131401T>C			B3KS45|Q58F53	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.G135	ENST00000237653.7	37	c.405	CCDS3647.1	4																																																																																			ADH6	-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	ENSG00000172955		0.368	ADH6-003	KNOWN	basic|CCDS	protein_coding	ADH6	HGNC	protein_coding	OTTHUMT00000253665.1	-	0	78	0	T	NM_000672		100131401	-1	tier1	-	no_errors	ENST00000394899	ensembl	human	known	74_37	silent	6.06	61	4	SNP	0.802	C	C	100131401	T	C	100131401	2	2	87	1	0	0	0	0	0	0	0	1	312	1770	62	4		4	ADH6	4	100131401	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	768247	100131401	91022875	516	23640											
MTTP	4547	genome.wustl.edu	37	chr4	100543977	100543977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgtttgcccctcagcCggatagtacttccagcggat	7	11	12	11	2	1	0	1	0	0	0	2	2	2	2	4	3	4	2	4	3	2	4	rs144600401	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:100543977C>T	ENST00000265517.5	+	18	2860	c.2657C>T	c.(2656-2658)cCg>cTg	p.P886L	MTTP_ENST00000457717.1_Missense_Mutation_p.P886L|MTTP_ENST00000511045.1_Missense_Mutation_p.P913L|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	886					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GCCCCTCAGCCGGATAGTACT	0.443																																																	0								T	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	161	159	160		2657	4.4	0	4	dbSNP_134	160	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MTTP	NM_000253.2	98	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	886/895	100543977	4,13002	2203	4300	6503	SO:0001583	missense	0				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"microsomal triglyceride transfer protein (large polypeptide, 88kD)", "microsomal triglyceride transfer protein (large polypeptide, 88kDa)"	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2657C>T	4.37:g.100543977C>T	ENSP00000265517:p.Pro886Leu		A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.P886L	ENST00000265517.5	37	c.2657	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	c	9.371	1.070505	0.20147	2.27E-4	3.49E-4	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.61392	0.11;0.14;0.14	6.16	4.44	0.53790	.	0.499250	0.23935	N	0.043105	T	0.50394	0.1613	L	0.57536	1.79	0.09310	N	1	B;B	0.18166	0.026;0.006	B;B	0.10450	0.005;0.003	T	0.45381	-0.9265	10	0.44086	T	0.13	-0.6624	8.268	0.31827	0.1253:0.7425:0.0:0.1321	.	913;886	E9PBP6;P55157	.;MTP_HUMAN	L	913;886;886	ENSP00000427679:P913L;ENSP00000400821:P886L;ENSP00000265517:P886L	ENSP00000265517:P886L	P	+	2	0	MTTP	100763000	0.398000	0.25279	0.009000	0.14445	0.094000	0.18550	2.654000	0.46699	1.639000	0.50556	-0.127000	0.14921	CCG	MTTP	-	NULL	ENSG00000138823		0.443	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	-	0	77	0	C			100543977	1	tier1	rs144600401	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	29.79	33	14	SNP	0.010	T	T	100543977	C	T	100543977	3	4	87	1	0	0	0	0	1	0	0	0	10002	652	23	1	2727	1	MTTP	4	100543977	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	412576	100543977	90610299	517	23641											
TET2	54790	genome.wustl.edu	37	chr4	106164884	106164884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcggagcttaccgagaCgctgaggaaatacggcacgc	11	6	12	12	5	0	2	0	1	0	1	1	5	0	4	1	3	4	3	1	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:106164884C>T	ENST00000540549.1	+	6	4612	c.3752C>T	c.(3751-3753)aCg>aTg	p.T1251M	TET2_ENST00000380013.4_Missense_Mutation_p.T1251M|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.T1272M			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1251					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTTACCGAGACGCTGAGGAAA	0.557			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													126	110	115					4																	106164884		692	1591	2283	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3752C>T	4.37:g.106164884C>T	ENSP00000442788:p.Thr1251Met		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.T1251M	ENST00000540549.1	37	c.3752	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037188	0.75617	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.37752	1.18;1.18;1.18	5.46	1.61	0.23674	TET cysteine-rich domain (1);	.	.	.	.	T	0.52805	0.1757	M	0.73598	2.24	0.35395	D	0.791101	D;D	0.89917	1.0;1.0	D;D	0.68765	0.96;0.96	T	0.60388	-0.7273	9	0.72032	D	0.01	.	6.7922	0.23705	0.0:0.6567:0.1272:0.2161	.	1272;1251	E7EQS8;Q6N021	.;TET2_HUMAN	M	1251;1272;1251	ENSP00000442788:T1251M;ENSP00000425443:T1272M;ENSP00000369351:T1251M	ENSP00000369351:T1251M	T	+	2	0	TET2	106384333	0.996000	0.38824	0.000000	0.03702	0.225000	0.24961	3.960000	0.56752	0.270000	0.21984	0.650000	0.86243	ACG	TET2	-	NULL	ENSG00000168769		0.557	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0	46	0	C	NM_017628		106164884	1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.099	T	T	106164884	C	T	106164884	3	4	87	1	0	0	0	0	1	0	0	0	15817	536	19	1	3855	1	TET2	4	106164884	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5620907	106164884	84989392	518	23642											
TET2	54790	genome.wustl.edu	37	chr4	106196910	106196910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccaatctgagcaatccaaAcatggactataaaaatggtg	17	8	7	9	0	1	1	0	1	1	0	2	2	2	2	2	2	2	1	2	2	7	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:106196910A>G	ENST00000540549.1	+	11	6103	c.5243A>G	c.(5242-5244)aAc>aGc	p.N1748S	TET2_ENST00000380013.4_Missense_Mutation_p.N1748S|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.N1769S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1748					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGCAATCCAAACATGGACTAT	0.458			"Mis N, F"		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													37	29	32					4																	106196910		692	1591	2283	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5243A>G	4.37:g.106196910A>G	ENSP00000442788:p.Asn1748Ser		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.N1748S	ENST00000540549.1	37	c.5243	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	A	1.433	-0.569734	0.03910	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.01981	4.52;4.52;4.52	5.16	-3.14	0.05250	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.01353	0.0044	N	0.17082	0.46	0.09310	N	0.999999	B;B	0.10296	0.003;0.003	B;B	0.16289	0.015;0.015	T	0.49103	-0.8974	9	0.09084	T	0.74	-1.4269	7.9336	0.29916	0.3721:0.1326:0.4952:0.0	.	1769;1748	E7EQS8;Q6N021	.;TET2_HUMAN	S	1748;1769;1748	ENSP00000442788:N1748S;ENSP00000425443:N1769S;ENSP00000369351:N1748S	ENSP00000369351:N1748S	N	+	2	0	TET2	106416359	0.001000	0.12720	0.000000	0.03702	0.158000	0.22134	0.691000	0.25467	-0.574000	0.05990	0.383000	0.25322	AAC	TET2	-	NULL	ENSG00000168769		0.458	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	-	0	15	0	A	NM_017628		106196910	1	tier1	-	no_errors	ENST00000380013	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.002	G	G	106196910	A	G	106196910	3	3	87	1	0	0	0	0	1	0	0	0	15817	43	2	4	5366	4	TET2	4	106196910	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	32026	106196910	84957366	519	23643											
ENPEP	2028	genome.wustl.edu	37	chr4	111397885	111397885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccactacgacctgcaCgtgaagcccctgttggagga	9	7	11	14	2	0	1	0	1	0	0	1	4	1	3	5	2	3	2	5	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:111397885C>T	ENST00000265162.5	+	1	657	c.315C>T	c.(313-315)caC>caT	p.H105H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	105					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACGACCTGCACGTGAAGCCCC	0.617																																																	0													94	99	97					4																	111397885		2203	4300	6503	SO:0001819	synonymous_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.315C>T	4.37:g.111397885C>T			Q504U2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H105	ENST00000265162.5	37	c.315	CCDS3691.1	4																																																																																			ENPEP	-	pfam_Peptidase_M1_N	ENSG00000138792		0.617	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	-	0	36	0	C			111397885	1	tier1	-	no_errors	ENST00000265162	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.780	T	T	111397885	C	T	111397885	2	4	87	1	0	0	0	0	0	0	0	1	5144	535	19	1		1	ENPEP	4	111397885	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5200975	111397885	79756391	520	23644											
PITX2	5308	genome.wustl.edu	37	chr4	111543527	111543527	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagccatggctaacggctgGggatggtgacaggaagatga	12	6	17	6	1	0	3	0	2	0	1	0	6	0	5	1	6	2	2	1	6	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:111543527G>T	ENST00000354925.2	-	6	1890				PITX2_ENST00000394595.3_Intron|PITX2_ENST00000394598.2_Intron|PITX2_ENST00000306732.3_Silent_p.P30P|PITX2_ENST00000557119.2_Silent_p.P30P|PITX2_ENST00000355080.5_Intron|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTAACGGCTGGGGATGGTGAC	0.632																																																	0													26	27	27					4																	111543527		2199	4294	6493	SO:0001627	intron_variant	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"Homeoboxes / PRD class"	9005	protein-coding gene	gene with protein product		601542	"paired-like homeodomain transcription factor 2"	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.185-1002C>A	4.37:g.111543527G>T			A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.P30	ENST00000354925.2	37	c.90	CCDS3692.1	4																																																																																			PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.632	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	-	0	130	0	G			111543527	-1	tier1	-	no_errors	ENST00000306732	ensembl	human	known	74_37	silent	8.33	88	8	SNP	1.000	T	T	111543527	G	T	111543527	1	4	87	0	1	0	0	0	0	0	0	0	11994	1219	43	3		3	PITX2	4	111543527	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	145642	111543527	79610749	521	23645											
C4orf21	55345	genome.wustl.edu	37	chr4	113540483	113540483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactcctgaatagtgagatgCcaaactatctcttttcacag	13	12	6	10	0	2	2	1	2	1	1	4	3	3	2	2	0	3	0	2	0	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:113540483C>T	ENST00000505019.1	-	6	840	c.715G>A	c.(715-717)Gca>Aca	p.A239T	C4orf21_ENST00000309071.5_Missense_Mutation_p.A239T|C4orf21_ENST00000445203.2_Missense_Mutation_p.A208T	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		239						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TAGTGAGATGCCAAACTATCT	0.378																																																	0													75	76	75					4																	113540483		2203	4300	6503	SO:0001583	missense	0																														ENST00000505019.1:c.715G>A	4.37:g.113540483C>T	ENSP00000424737:p.Ala239Thr		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.A239T	ENST00000505019.1	37	c.715		4	.	.	.	.	.	.	.	.	.	.	C	1.684	-0.505726	0.04261	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	T;T;T	0.80738	-1.41;2.07;1.67	5.18	-2.77	0.05877	.	1.266500	0.05500	N	0.558247	T	0.54208	0.1844	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.06405	0.001;0.002	T	0.49428	-0.8941	10	0.05721	T	0.95	-0.2202	3.9686	0.09443	0.3161:0.1786:0.0:0.5053	.	239;239	Q86YA3;G5EA02	CD021_HUMAN;.	T	239;239;208	ENSP00000424737:A239T;ENSP00000309095:A239T;ENSP00000390505:A208T	ENSP00000309095:A239T	A	-	1	0	C4orf21	113759932	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-0.435000	0.07264	-0.274000	0.10170	GCA	C4orf21	-	NULL	ENSG00000138658		0.378	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0	44	0	C			113540483	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.000	T	T	113540483	C	T	113540483	3	4	87	1	0	0	0	0	1	0	0	0	2261	739	26	3	5691	3	C4orf21	4	113540483	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1996956	113540483	77613793	522	23646											
ANK2	287	genome.wustl.edu	37	chr4	114294594	114294594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtattgaagagtgacaccGagcagtcagaggtgagacaa	14	8	13	6	1	1	5	1	3	0	3	1	7	1	5	1	1	1	2	1	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:114294594G>A	ENST00000357077.4	+	45	11901	c.11848G>A	c.(11848-11850)Gag>Aag	p.E3950K	ANK2_ENST00000394537.3_Missense_Mutation_p.E1865K|ANK2_ENST00000509550.1_Missense_Mutation_p.E1041K|ANK2_ENST00000510275.2_Missense_Mutation_p.E548K|ANK2_ENST00000506722.1_Missense_Mutation_p.E1856K|ANK2_ENST00000264366.6_Missense_Mutation_p.E3917K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3950					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGTGACACCGAGCAGTCAGA	0.418																																																	0													103	98	99					4																	114294594		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11848G>A	4.37:g.114294594G>A	ENSP00000349588:p.Glu3950Lys		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.E3950K	ENST00000357077.4	37	c.11848	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.16|10.16	1.273188|1.273188	0.23221|0.23221	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342|ENST00000514960;ENST00000506344;ENST00000514167	T;T;T;T;T;D;D|.	0.96300|.	-0.31;-0.28;-0.35;-0.36;-1.06;-2.04;-3.97|.	5.76|5.76	-1.61|-1.61	0.08399|0.08399	.|.	1.467820|.	0.04745|.	N|.	0.423564|.	T|T	0.40347|0.40347	0.1113|0.1113	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	B;B;B;P;B;P;B;B|.	0.46020|.	0.031;0.324;0.117;0.519;0.226;0.871;0.005;0.037|.	B;B;B;B;B;B;B;B|.	0.29598|.	0.015;0.035;0.035;0.057;0.017;0.104;0.003;0.021|.	T|T	0.38845|0.38845	-0.9642|-0.9642	10|5	0.32370|.	T|.	0.25|.	.|.	6.7665|6.7665	0.23571|0.23571	0.2498:0.3305:0.4197:0.0|0.2498:0.3305:0.4197:0.0	.|.	1041;27;28;931;897;1865;3950;1856|.	E9PCH6;A5XEJ9;E9PB80;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;.;.;.;.;.;.;.|.	K|Q	1856;931;1865;3950;3917;1856;1041;548;960|897;41;27	ENSP00000421067:E1856K;ENSP00000378044:E1865K;ENSP00000349588:E3950K;ENSP00000264366:E3917K;ENSP00000426944:E1041K;ENSP00000421023:E548K;ENSP00000422498:E960K|.	ENSP00000264366:E3917K|.	E|R	+|+	1|2	0|0	ANK2|ANK2	114514043|114514043	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.331000|0.331000	0.28603|0.28603	0.746000|0.746000	0.26275|0.26275	-0.765000|-0.765000	0.04645|0.04645	-0.137000|-0.137000	0.14449|0.14449	GAG|CGA	ANK2	-	NULL	ENSG00000145362		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	47	0	G	NM_001148		114294594	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	24.49	37	12	SNP	0.000	A	A	114294594	G	A	114294594	3	1	87	1	0	0	0	0	1	0	0	0	621	1059	37	1	12091	1	ANK2	4	114294594	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	754111	114294594	76859682	523	23647											
METTL14	57721	genome.wustl.edu	37	chr4	119626837	119626837	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcattcatgctaatgtTgacattgacttaattatcac	12	16	5	8	0	3	2	3	2	0	0	3	3	3	2	0	0	1	2	0	0	3	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:119626837T>C	ENST00000388822.5	+	10	1094	c.927T>C	c.(925-927)gtT>gtC	p.V309V	METTL14_ENST00000506780.1_Silent_p.V271V			Q9HCE5	MET14_HUMAN	methyltransferase like 14	309					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ATGCTAATGTTGACATTGACT	0.368																																																	0													154	152	153					4																	119626837		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.927T>C	4.37:g.119626837T>C			A6NIG1|Q969V2	Silent	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.V309	ENST00000388822.5	37	c.927	CCDS34053.1	4																																																																																			METTL14	-	pfam_MT-A70-like,pfscan_MT-A70-like	ENSG00000145388		0.368	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL14	HGNC	protein_coding	OTTHUMT00000364034.3	-	0	61	0	T	NM_020961		119626837	1	tier1	-	no_errors	ENST00000388822	ensembl	human	known	74_37	silent	10.20	44	5	SNP	0.436	C	C	119626837	T	C	119626837	2	2	87	1	0	0	0	0	0	0	0	1	9536	1799	63	4		4	METTL14	4	119626837	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	5332243	119626837	71527439	524	23648											
MYOZ2	51778	genome.wustl.edu	37	chr4	120107300	120107300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagaatattcctatagTgataacaaccgaacctacag	16	10	6	9	1	1	2	0	2	1	1	2	4	2	2	3	0	4	0	3	0	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:120107300T>C	ENST00000307128.5	+	6	953	c.740T>C	c.(739-741)gTg>gCg	p.V247A		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATTCCTATAGTGATAACAACC	0.393																																																	0													89	89	89					4																	120107300		2203	4300	6503	SO:0001583	missense	0			AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"chromosome 4 open reading frame 5"	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.740T>C	4.37:g.120107300T>C	ENSP00000306997:p.Val247Ala			Missense_Mutation	SNP	pfam_Calsarcin-bd	p.V247A	ENST00000307128.5	37	c.740	CCDS3711.1	4	.	.	.	.	.	.	.	.	.	.	T	15.72	2.916850	0.52546	.	.	ENSG00000172399	ENST00000307128	T	0.62232	0.04	5.83	4.64	0.57946	.	0.252146	0.40302	N	0.001139	T	0.53465	0.1798	L	0.51422	1.61	0.37957	D	0.932858	B	0.31125	0.309	B	0.31946	0.138	T	0.53830	-0.8383	10	0.16420	T	0.52	-12.3312	12.1458	0.54022	0.0:0.068:0.0:0.932	.	247	Q9NPC6	MYOZ2_HUMAN	A	247	ENSP00000306997:V247A	ENSP00000306997:V247A	V	+	2	0	MYOZ2	120326748	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	3.656000	0.54467	2.219000	0.72066	0.528000	0.53228	GTG	MYOZ2	-	pfam_Calsarcin-bd	ENSG00000172399		0.393	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOZ2	HGNC	protein_coding	OTTHUMT00000256526.2	-	0	33	0	T			120107300	1	tier1	-	no_errors	ENST00000307128	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.934	C	C	120107300	T	C	120107300	3	2	87	1	0	0	0	0	1	0	0	0	10134	1696	59	4	758	4	MYOZ2	4	120107300	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	480463	120107300	71046976	525	23649											
PDE5A	8654	genome.wustl.edu	37	chr4	120528330	120528330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggtgttccaggggcaCtgttatctgcacgaggactc	6	12	14	9	1	1	0	0	0	1	0	3	2	2	1	1	5	1	5	1	5	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:120528330C>T	ENST00000354960.3	-	2	594	c.275G>A	c.(274-276)aGt>aAt	p.S92N	PDE5A_ENST00000394439.1_Missense_Mutation_p.S40N|PDE5A_ENST00000264805.5_Missense_Mutation_p.S50N	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	92					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TCCAGGGGCACTGTTATCTGC	0.522																																																	0													91	89	90					4																	120528330		2203	4300	6503	SO:0001583	missense	0			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"Phosphodiesterases"	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.275G>A	4.37:g.120528330C>T	ENSP00000347046:p.Ser92Asn		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.S92N	ENST00000354960.3	37	c.275	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161791	0.38217	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805;ENST00000420633	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.64	3.85	0.44370	.	0.226336	0.37393	N	0.002104	T	0.09202	0.0227	L	0.39898	1.24	0.20074	N	0.999937	B;B	0.12630	0.006;0.004	B;B	0.15052	0.005;0.012	T	0.18808	-1.0325	10	0.52906	T	0.07	.	14.536	0.67960	0.0:0.3922:0.6078:0.0	.	92;50	O76074;O76074-2	PDE5A_HUMAN;.	N	92;40;50;40	ENSP00000347046:S92N;ENSP00000377957:S40N;ENSP00000264805:S50N;ENSP00000416309:S40N	ENSP00000264805:S50N	S	-	2	0	PDE5A	120747778	1.000000	0.71417	0.067000	0.19924	0.997000	0.91878	3.552000	0.53705	1.345000	0.45676	0.655000	0.94253	AGT	PDE5A	-	NULL	ENSG00000138735		0.522	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	-	0	62	0	C	NM_001083		120528330	-1	tier1	-	no_errors	ENST00000354960	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.559	T	T	120528330	C	T	120528330	3	4	87	1	0	0	0	0	1	0	0	0	11683	565	20	3	2432	3	PDE5A	4	120528330	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	421030	120528330	70625946	526	23650											
C4orf31	79625	genome.wustl.edu	37	chr4	121958469	121958469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagagacttttgaaattGtgctctttgttgatgaccac	10	14	9	8	0	1	4	0	3	1	1	1	5	1	4	1	0	1	3	1	0	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:121958469G>A	ENST00000379692.4	-	4	1183	c.657C>T	c.(655-657)caC>caT	p.H219H	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	219					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTTGAAATTGTGCTCTTTGT	0.498																																																	0													161	165	164					4																	121958469		2200	4300	6500	SO:0001819	synonymous_variant	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.657C>T	4.37:g.121958469G>A			A8K0Q0|Q6UWE5|Q9H5P7	Silent	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.H219	ENST00000379692.4	37	c.657	CCDS3717.2	4																																																																																			NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000173376		0.498	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	-	0	62	0	G	NM_024574		121958469	-1	tier1	-	no_errors	ENST00000379692	ensembl	human	known	74_37	silent	9.80	46	5	SNP	1.000	A	A	121958469	G	A	121958469	2	1	87	1	0	0	0	0	0	0	0	1	2268	1368	48	3		3	C4orf31	4	121958469	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1430139	121958469	69195807	527	23651											
TRPC3	7222	genome.wustl.edu	37	chr4	122854046	122854046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccactgggatgttgcCgtactcggcggcgtcgagga	6	7	16	12	6	0	0	0	0	0	0	2	3	0	2	2	4	2	3	2	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:122854046C>T	ENST00000379645.3	-	2	440	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	TRPC3_ENST00000513531.1_Missense_Mutation_p.G50S|TRPC3_ENST00000264811.5_Missense_Mutation_p.G50S	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	38					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGATGTTGCCGTACTCGGCG	0.667																																																	0													55	53	54					4																	122854046		2203	4300	6503	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.367G>A	4.37:g.122854046C>T	ENSP00000368966:p.Gly123Ser		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.G123S	ENST00000379645.3	37	c.367	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.833684	0.97003	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;T	0.72835	-0.69;-0.69;-0.69;0.87	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.87720	0.6248	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88754	0.3252	10	0.87932	D	0	-37.2766	20.3932	0.98965	0.0:1.0:0.0:0.0	.	50;123	E9PCJ9;Q5G1L5	.;.	S	50;123;50;50	ENSP00000264811:G50S;ENSP00000368966:G123S;ENSP00000426899:G50S;ENSP00000422214:G50S	ENSP00000264811:G50S	G	-	1	0	TRPC3	123073496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.824000	0.97209	0.655000	0.94253	GGC	TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000138741		0.667	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0	59	0	C	NM_003305		122854046	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	20.75	42	11	SNP	1.000	T	T	122854046	C	T	122854046	3	4	87	1	0	0	0	0	1	0	0	0	16627	652	23	1	2442	1	TRPC3	4	122854046	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	895577	122854046	68300230	528	23652											
TRPC3	7222	genome.wustl.edu	37	chr4	122854153	122854153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccggcccttctccCgcatcactgtcatgcgtctc	3	10	9	19	4	4	0	2	0	2	0	6	0	4	0	4	2	1	1	4	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:122854153C>T	ENST00000379645.3	-	2	333	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	TRPC3_ENST00000513531.1_Missense_Mutation_p.R14Q|TRPC3_ENST00000264811.5_Missense_Mutation_p.R14Q	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	2					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCCTTCTCCCGCATCACTGT	0.592																																																	0													26	28	27					4																	122854153		2202	4292	6494	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.260G>A	4.37:g.122854153C>T	ENSP00000368966:p.Arg87Gln		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R87Q	ENST00000379645.3	37	c.260	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.602102	0.96614	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;D	0.86956	-0.9;-1.1;-0.96;-2.19	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84737	0.5538	N	0.08118	0	0.53005	D	0.999969	D;D	0.64830	0.994;0.986	P;P	0.54346	0.749;0.664	D	0.88055	0.2790	10	0.87932	D	0	-29.484	20.051	0.97627	0.0:1.0:0.0:0.0	.	14;87	E9PCJ9;Q5G1L5	.;.	Q	14;87;14;14	ENSP00000264811:R14Q;ENSP00000368966:R87Q;ENSP00000426899:R14Q;ENSP00000422214:R14Q	ENSP00000264811:R14Q	R	-	2	0	TRPC3	123073603	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.769000	0.68865	2.740000	0.93945	0.650000	0.86243	CGG	TRPC3	-	NULL	ENSG00000138741		0.592	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1		0	24	0	C	NM_003305		122854153	-1			no_errors	ENST00000379645	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	122854153	C	T	122854153	3	4	87	1	0	0	0	0	1	0	0	0	16627	652	23	1	2549	1	TRPC3	4	122854153	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	107	122854153	68300123	529	23653											
KIAA1109	84162	genome.wustl.edu	37	chr4	123178534	123178534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatagaccagctcagcCtctgaaacctcaaatagcta	14	9	5	13	0	3	2	2	1	1	1	3	2	3	2	3	0	5	2	3	0	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:123178534C>A	ENST00000264501.4	+	41	6876	c.6503C>A	c.(6502-6504)cCt>cAt	p.P2168H	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P2168H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P2168H			Q2LD37	K1109_HUMAN	KIAA1109	2168					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCAGCTCAGCCTCTGAAACCT	0.448																																																	0													206	199	201					4																	123178534		2051	4219	6270	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6503C>A	4.37:g.123178534C>A	ENSP00000264501:p.Pro2168His		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.P2168H	ENST00000264501.4	37	c.6503	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.687730|3.687730	0.68157|0.68157	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000446180|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.29655	.|2.18;2.18;1.56	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.257594	.|0.25355	.|U	.|0.031269	T|T	0.29716|0.29716	0.0742|0.0742	N|N	0.14661|0.14661	0.345|0.345	0.37815|0.37815	D|D	0.928187|0.928187	.|P;P;B	.|0.49447	.|0.924;0.924;0.162	.|P;B;B	.|0.46479	.|0.518;0.391;0.219	T|T	0.17837|0.17837	-1.0356|-1.0356	5|10	.|0.87932	.|D	.|0	.|.	20.6525|20.6525	0.99598|0.99598	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2168;2167;2168	.|Q2LD37-6;Q2LD37-2;Q2LD37	.|.;.;K1109_HUMAN	I|H	741|2168	.|ENSP00000264501:P2168H;ENSP00000373390:P2168H;ENSP00000389925:P2168H	.|ENSP00000264501:P2168H	L|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123397984|123397984	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	5.685000|5.685000	0.68204|0.68204	2.890000|2.890000	0.99128|0.99128	0.585000|0.585000	0.79938|0.79938	CTC|CCT	KIAA1109	-	NULL	ENSG00000138688		0.448	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	48	0	C	NM_020797		123178534	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.999	A	A	123178534	C	A	123178534	3	1	87	1	0	0	0	0	1	0	0	0	8235	681	24	3	6657	3	KIAA1109	4	123178534	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	324381	123178534	67975742	530	23654											
PGRMC2	10424	genome.wustl.edu	37	chr4	129193546	129193547	+	Frame_Shift_Del	DEL	CT	CT	-																															gcatttcccattctcgaacaCtctccatttgtactgcattc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:129193546_129193547delCT	ENST00000296425.5	-	2	564_565	c.544_545delAG	c.(544-546)agtfs	p.S182fs	PGRMC2_ENST00000520121.1_Frame_Shift_Del_p.S206fs|PGRMC2_ENST00000503872.1_Frame_Shift_Del_p.S3fs|PGRMC2_ENST00000394276.3_Frame_Shift_Del_p.S3fs|PGRMC2_ENST00000512483.1_Frame_Shift_Del_p.S3fs|PGRMC2_ENST00000503588.1_Frame_Shift_Del_p.S50fs			O15173	PGRC2_HUMAN	progesterone receptor membrane component 2	182	Cytochrome b5 heme-binding.				steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)										TTCTCGAACACTCTCCATTTGT	0.332																																					Colon(78;371 1268 8296 41305 53030)												0																																										SO:0001589	frameshift_variant	0				CCDS3739.1, CCDS3739.2	4q26	2008-08-29			ENSG00000164040	ENSG00000164040			16089	protein-coding gene	gene with protein product		607735				9705155	Standard	NM_006320		Approved	PMBP, DG6	uc003igg.3	O15173	OTTHUMG00000133342	ENST00000296425.5:c.544_545delAG	4.37:g.129193548_129193549delCT	ENSP00000296425:p.Ser182fs		Q569H1	Frame_Shift_Del	DEL	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	p.S206fs	ENST00000296425.5	37	c.617_616		4																																																																																			PGRMC2	-	pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd	ENSG00000164040		0.332	PGRMC2-007	KNOWN	basic|appris_principal	protein_coding	PGRMC2	HGNC	protein_coding	OTTHUMT00000470697.1		0	38	0	CT			129193547	-1	tier1		no_errors	ENST00000520121	ensembl	human	known	74_37	frame_shift_del	19.23	21	5	DEL	1.000:1.000	-	-	129193547	CT	-	129193546	7	5	87	1	0	1	0	1	0	0	0	0	11846	565	20	0	134	0	PGRMC2	4	129193546	Frame_Shift_Del	DEL	CT	TCGA-L5-A8NM-01A-11D-A37C-09	6015012	129193546	61960730	531	23655											
CLGN	1047	genome.wustl.edu	37	chr4	141317358	141317358	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggcaggttcactttcatCcctgtaaatacaacgtttta	10	15	7	9	1	2	0	2	0	0	0	3	0	3	0	1	2	2	4	1	2	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:141317358C>A	ENST00000325617.5	-	9	1326	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	CLGN_ENST00000414773.1_Splice_Site_p.D296Y|CLGN_ENST00000537281.1_Splice_Site_p.D296Y	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	296					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338																																																	1	Substitution - Missense(1)	prostate(1)											140	132	135					4																	141317358		2203	4300	6503	SO:0001630	splice_region_variant	0			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.885-1G>T	4.37:g.141317358C>A			B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.D296Y	ENST00000325617.5	37	c.886	CCDS3751.1	4	.	.	.	.	.	.	.	.	.	.	c	27.3	4.816231	0.90790	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.57273	0.41;0.41;0.41	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88182	0.2871	10	0.87932	D	0	-28.6323	20.143	0.98065	0.0:1.0:0.0:0.0	.	296	O14967	CLGN_HUMAN	Y	296;296;296;213	ENSP00000326699:D296Y;ENSP00000392782:D296Y;ENSP00000439381:D296Y	ENSP00000326699:D296Y	D	-	1	0	CLGN	141536808	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.773000	0.85462	2.763000	0.94921	0.550000	0.68814	GAT	CLGN	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom	ENSG00000153132		0.338	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	-	0	73	0	C	NM_004362	Missense_Mutation	141317358	-1	tier1	-	no_errors	ENST00000325617	ensembl	human	known	74_37	missense	12.66	69	10	SNP	1.000	A	A	141317358	C	A	141317358	5	1	87	1	0	0	0	0	0	0	1	0	3531	869	30	3	974	3	CLGN	4	141317358	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	12123812	141317358	49836918	532	23656											
INPP4B	8821	genome.wustl.edu	37	chr4	143067033	143067033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgttaatgaaggttcCttttctccatcattgttgcc	7	17	7	10	0	3	1	1	1	2	0	5	1	4	1	3	1	1	4	3	1	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:143067033C>A	ENST00000513000.1	-	19	2113	c.1680G>T	c.(1678-1680)aaG>aaT	p.K560N	INPP4B_ENST00000509777.1_Missense_Mutation_p.K560N|INPP4B_ENST00000262992.4_Missense_Mutation_p.K560N|INPP4B_ENST00000508116.1_Missense_Mutation_p.K560N|INPP4B_ENST00000308502.4_Missense_Mutation_p.K560N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	560					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ATGAAGGTTCCTTTTCTCCAT	0.413																																																	0													190	164	173					4																	143067033		2203	4300	6503	SO:0001583	missense	0			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"inositol polyphosphate-4-phosphatase, type II, 105kD"			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1680G>T	4.37:g.143067033C>A	ENSP00000425487:p.Lys560Asn		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_dom	p.K560N	ENST00000513000.1	37	c.1680	CCDS3757.1	4	.	.	.	.	.	.	.	.	.	.	C	1.338	-0.594873	0.03771	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.75	2.93	0.34026	.	0.633271	0.16507	N	0.211403	T	0.14787	0.0357	N	0.14661	0.345	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.19943	-1.0290	10	0.18276	T	0.48	.	6.1312	0.20207	0.3052:0.5381:0.0:0.1567	.	431;560	B7Z6T2;O15327	.;INP4B_HUMAN	N	560;560;560;431;560;560;375;375;560;431	ENSP00000425487:K560N;ENSP00000262992:K560N;ENSP00000308441:K560N;ENSP00000423954:K560N;ENSP00000422793:K560N;ENSP00000426207:K375N;ENSP00000427250:K560N;ENSP00000421065:K431N	ENSP00000262992:K560N	K	-	3	2	INPP4B	143286483	0.143000	0.22626	0.447000	0.26932	0.020000	0.10135	0.176000	0.16782	1.416000	0.47057	0.650000	0.86243	AAG	INPP4B	-	NULL	ENSG00000109452		0.413	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	-	0	68	0	C	NM_003866		143067033	-1	tier1	-	no_errors	ENST00000509777	ensembl	human	known	74_37	missense	13.04	80	12	SNP	0.327	A	A	143067033	C	A	143067033	3	1	87	1	0	0	0	0	1	0	0	0	7780	680	24	3	1130	3	INPP4B	4	143067033	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1749675	143067033	48087243	533	23657											
ABCE1	6059	genome.wustl.edu	37	chr4	146029243	146029243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccacacatcgatattgtgCcaatgccttcaaacttcaca	14	10	4	13	1	2	0	2	0	0	0	3	1	2	0	3	0	4	0	3	0	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:146029243C>T	ENST00000296577.4	+	4	781	c.266C>T	c.(265-267)gCc>gTc	p.A89V	OTUD4_ENST00000455611.2_5'Flank|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	89	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CGATATTGTGCCAATGCCTTC	0.348																																																	0													97	90	93					4																	146029243		2203	4300	6503	SO:0001583	missense	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"ATP binding cassette transporters / subfamily E"	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.266C>T	4.37:g.146029243C>T	ENSP00000296577:p.Ala89Val		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.A89V	ENST00000296577.4	37	c.266	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615132	0.66672	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.94138	-3.36	5.58	5.58	0.84498	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.87791	0.6266	N	0.14661	0.345	0.80722	D	1	B	0.14438	0.01	B	0.18561	0.022	T	0.81850	-0.0743	10	0.20519	T	0.43	-6.7735	19.9198	0.97084	0.0:1.0:0.0:0.0	.	89	P61221	ABCE1_HUMAN	V	89	ENSP00000296577:A89V	ENSP00000296577:A89V	A	+	2	0	ABCE1	146248693	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.707000	0.84623	2.787000	0.95880	0.585000	0.79938	GCC	ABCE1	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,prints_ABC_E	ENSG00000164163		0.348	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	-	0	50	0	C	NM_002940		146029243	1	tier1	-	no_errors	ENST00000296577	ensembl	human	known	74_37	missense	36.49	47	27	SNP	1.000	T	T	146029243	C	T	146029243	3	4	87	1	0	0	0	0	1	0	0	0	64	739	26	3	276	3	ABCE1	4	146029243	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2962210	146029243	45125033	534	23658											
TMEM184C	55751	genome.wustl.edu	37	chr4	148550763	148550764	+	Frame_Shift_Ins	INS	-	-	T																															ttttagaatctgtgagctgcINSttggtatatatgacgaaggg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:148550763_148550764insT	ENST00000296582.3	+	6	1160_1161	c.586_587insT	c.(586-588)cttfs	p.L196fs	TMEM184C_ENST00000508208.1_Frame_Shift_Ins_p.L196fs	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	196						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGTGAGCTGCTTGGTATATAT	0.292																																																	0																																										SO:0001589	frameshift_variant	0			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"transmembrane protein 34"	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.588dupT	4.37:g.148550765_148550765dupT	ENSP00000296582:p.Leu196fs		D3DP04|Q86X84|Q969I7|Q9NXM2	Frame_Shift_Ins	INS	pfam_Ost-alpha	p.G197fs	ENST00000296582.3	37	c.586_587	CCDS3770.1	4																																																																																			TMEM184C	-	pfam_Ost-alpha	ENSG00000164168		0.292	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184C	HGNC	protein_coding	OTTHUMT00000364644.1		0	75	0	-	NM_018241		148550764	1	tier1		no_errors	ENST00000296582	ensembl	human	known	74_37	frame_shift_ins	26.09	51	18	INS	0.015:0.026	T	T	148550764	-	T	148550763	7	5	87	1	0	1	1	0	0	0	0	0	16153	797	28	0	608	0	TMEM184C	4	148550763	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2521520	148550763	42603513	535	23659											
DCLK2	166614	genome.wustl.edu	37	chr4	151023683	151023683	+	Frame_Shift_Del	DEL	A	A	-																															ttcgtaaagtcgattacaccAaaaatattaatccaaactgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:151023683delA	ENST00000296550.7	+	2	1229	c.475delA	c.(475-477)aaafs	p.K159fs	DCLK2_ENST00000302176.8_Frame_Shift_Del_p.K159fs|DCLK2_ENST00000506325.1_Frame_Shift_Del_p.K159fs	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	159					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CGATTACACCAAAAATATTAA	0.388																																					GBM(195;186 2215 13375 16801 37459)												0													62	65	64					4																	151023683		2203	4300	6503	SO:0001589	frameshift_variant	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"doublecortin and CaM kinase-like 2"	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.475delA	4.37:g.151023683delA	ENSP00000296550:p.Lys159fs		C9J5Q9|Q59GC8|Q8N399	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.N160fs	ENST00000296550.7	37	c.475	CCDS34076.1	4																																																																																			DCLK2	-	NULL	ENSG00000170390		0.388	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1		0	62	0	A	NM_001040260		151023683	1	tier1		no_errors	ENST00000302176	ensembl	human	known	74_37	frame_shift_del	20.00	36	9	DEL	1.000	-	-	151023683	A	-	151023683	7	5	87	1	0	1	0	1	0	0	0	0	4301	131	5	0	481	0	DCLK2	4	151023683	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	2472920	151023683	40130593	536	23660											
FBXW7	55294	genome.wustl.edu	37	chr4	153244156	153244156	+	Frame_Shift_Del	DEL	C	C	-																															cgccacacaactcccccactCcccccactctccaatgtgac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:153244156delC	ENST00000281708.4	-	12	3230	c.2001delG	c.(1999-2001)gggfs	p.G667fs	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.G667fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.G667fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.G549fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.G491fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.G587fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	667					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S668fs*39(1)|p.S668fs*26(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCCCCCACTCCCCCCACTCT	0.488			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)											173	174	174					4																	153244156		2203	4300	6503	SO:0001589	frameshift_variant	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2001delG	4.37:g.153244156delC	ENSP00000281708:p.Gly667fs		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S668fs	ENST00000281708.4	37	c.2001	CCDS3777.1	4																																																																																			FBXW7	-	smart_WD40_repeat	ENSG00000109670		0.488	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0	87	0	C			153244156	-1	tier1		no_errors	ENST00000281708	ensembl	human	known	74_37	frame_shift_del	20.83	57	15	DEL	0.990	-	-	153244156	C	-	153244156	7	5	87	1	0	1	0	1	0	0	0	0	5791	842	30	0	126	0	FBXW7	4	153244156	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	2220473	153244156	37910120	537	23661											
DCHS2	54798	genome.wustl.edu	37	chr4	155160425	155160425	+	Frame_Shift_Del	DEL	C	C	-																															gacagagtcagcactgaataCcccacaggtattgattcagg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:155160425delC	ENST00000357232.4	-	24	6023	c.6024delG	c.(6022-6024)gggfs	p.G2008fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2008	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GCACTGAATACCCCACAGGTA	0.408																																																	0													64	62	63					4																	155160425		2203	4300	6503	SO:0001589	frameshift_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6024delG	4.37:g.155160425delC	ENSP00000349768:p.Gly2008fs		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y2009fs	ENST00000357232.4	37	c.6024	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197410		0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2		0	47	0	C	NM_001142552		155160425	-1	tier1		no_errors	ENST00000357232	ensembl	human	known	74_37	frame_shift_del	20.93	34	9	DEL	0.093	-	-	155160425	C	-	155160425	7	5	87	1	0	1	0	1	0	0	0	0	4297	494	18	0	2734	0	DCHS2	4	155160425	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1916269	155160425	35993851	538	23662											
DCHS2	54798	genome.wustl.edu	37	chr4	155412142	155412142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagtgcggatgatgccGgtgtccgggtgcacgtggaa	6	7	18	10	6	0	1	0	1	0	0	1	3	1	3	2	4	3	2	2	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:155412142G>A	ENST00000339452.1	-	1	726	c.366C>T	c.(364-366)acC>acT	p.T122T	DCHS2_ENST00000456341.2_Silent_p.T115T|DCHS2_ENST00000443500.1_Silent_p.T122T	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1323	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGATGATGCCGGTGTCCGGGT	0.701																																																	0													14	20	18					4																	155412142		691	1590	2281	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.366C>T	4.37:g.155412142G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T122	ENST00000339452.1	37	c.366	CCDS47150.1	4																																																																																			DCHS2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000197410		0.701	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0	34	0	G	NM_001142552		155412142	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	silent	16.67	20	4	SNP	0.903	A	A	155412142	G	A	155412142	2	1	87	1	0	0	0	0	0	0	0	1	4297	1103	39	1		1	DCHS2	4	155412142	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	251717	155412142	35742134	539	23663											
FGA	2243	genome.wustl.edu	37	chr4	155505987	155505988	+	Splice_Site	INS	-	-	A																															ggaggacatcatcacagtctINSaaaaaaaaaattaagctggt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:155505987_155505988insA	ENST00000302053.3	-	6	1970		c.e6-2			NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain						blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATCACAGTCTAAAAAAAAAAT	0.366																																					NSCLC(143;340 1922 20892 22370 48145)												0																																										SO:0001630	splice_region_variant	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1892-2->T	4.37:g.155505997_155505997dupA			A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Splice_Site	INS	-	e6-2	ENST00000302053.3	37	c.1892-3_1892-2	CCDS3787.1	4																																																																																			FGA	-	-	ENSG00000171560		0.366	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1		0	39	0	-	NM_000508	Intron	155505988	-1	tier1		no_errors	ENST00000302053	ensembl	human	known	74_37	splice_site_ins	8.70	42	4	INS	1.000:1.000	A	A	155505988	-	A	155505987	8	5	87	1	0	1	1	0	0	0	1	0	5852	1536	53	0	714	0	FGA	4	155505987	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	93845	155505987	35648289	540	23664											
RAPGEF2	9693	genome.wustl.edu	37	chr4	160225603	160225603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactagtgattctgggagcaGcagtctttctgatatctacc	9	13	9	10	0	4	2	0	2	4	0	4	3	4	3	1	1	3	2	1	1	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:160225603G>A	ENST00000264431.4	+	2	589	c.170G>A	c.(169-171)aGc>aAc	p.S57N	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	57					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCTGGGAGCAGCAGTCTTTCT	0.403																																																	0													167	156	160					4																	160225603		1909	4124	6033	SO:0001583	missense	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.170G>A	4.37:g.160225603G>A	ENSP00000264431:p.Ser57Asn		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S57N	ENST00000264431.4	37	c.170	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931147	0.92389	.	.	ENSG00000109756	ENST00000505478;ENST00000510510;ENST00000264431;ENST00000514565	T	0.39592	1.07	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61598	-0.7030	10	0.41790	T	0.15	.	19.8097	0.96542	0.0:0.0:1.0:0.0	.	57	Q9Y4G8	RPGF2_HUMAN	N	213;55;57;38	ENSP00000264431:S57N	ENSP00000264431:S57N	S	+	2	0	RAPGEF2	160445053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.685000	0.91497	0.484000	0.47621	AGC	RAPGEF2	-	NULL	ENSG00000109756		0.403	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	-	0	61	0	G	NM_014247		160225603	1	tier1	-	no_errors	ENST00000264431	ensembl	human	known	74_37	missense	9.86	64	7	SNP	1.000	A	A	160225603	G	A	160225603	3	1	87	1	0	0	0	0	1	0	0	0	13089	971	34	3	176	3	RAPGEF2	4	160225603	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4719616	160225603	30928673	541	23665											
FSTL5	56884	genome.wustl.edu	37	chr4	162463686	162463686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaagtaaaaagcacctTgaagcgtgagttgtttggaa	16	9	11	5	1	0	2	0	2	0	0	0	3	0	3	1	1	3	5	1	1	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:162463686T>C	ENST00000306100.5	-	9	1611	c.1175A>G	c.(1174-1176)cAa>cGa	p.Q392R	FSTL5_ENST00000511170.1_5'Flank|FSTL5_ENST00000427802.2_Missense_Mutation_p.Q391R|FSTL5_ENST00000536695.1_Missense_Mutation_p.Q391R|FSTL5_ENST00000379164.4_Missense_Mutation_p.Q391R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	392	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAAGCACCTTGAAGCGTGAG	0.348																																																	0													63	65	64					4																	162463686		2203	4300	6503	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing"	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1175A>G	4.37:g.162463686T>C	ENSP00000305334:p.Gln392Arg		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.Q392R	ENST00000306100.5	37	c.1175	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	T	13.80	2.343913	0.41498	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	4.88	4.88	0.63580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.106952	0.64402	D	0.000004	T	0.64327	0.2588	N	0.12182	0.205	0.80722	D	1	D;D;D	0.61697	0.99;0.979;0.988	D;P;D	0.64042	0.921;0.785;0.909	T	0.64512	-0.6390	10	0.28530	T	0.3	.	13.9792	0.64295	0.0:0.0:0.0:1.0	.	391;391;392	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	R	392;391;391;391	ENSP00000305334:Q392R;ENSP00000368462:Q391R;ENSP00000389270:Q391R;ENSP00000440409:Q391R	ENSP00000305334:Q392R	Q	-	2	0	FSTL5	162683136	1.000000	0.71417	0.999000	0.59377	0.459000	0.32528	4.754000	0.62191	1.961000	0.56991	0.379000	0.24179	CAA	FSTL5	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000168843		0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0	70	0	T	NM_020116		162463686	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	20.27	59	15	SNP	1.000	C	C	162463686	T	C	162463686	3	2	87	1	0	0	0	0	1	0	0	0	6104	1812	63	4	1400	4	FSTL5	4	162463686	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2238083	162463686	28690590	542	23666											
C4orf39	152756	genome.wustl.edu	37	chr4	165878577	165878578	+	Frame_Shift_Ins	INS	-	-	T																															caccatcaggtcccagcctcINStttttgtgacaaggactaga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:165878577_165878578insT	ENST00000513876.2	+	1	478_479	c.403_404insT	c.(403-405)cttfs	p.L135fs	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	135																	GTCCCAGCCTCTTTTTGTGACA	0.569																																																	0																																										SO:0001589	frameshift_variant	0			AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 39"	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.408dupT	4.37:g.165878582_165878582dupT	ENSP00000427428:p.Leu135fs			Frame_Shift_Ins	INS	NULL	p.V137fs	ENST00000513876.2	37	c.403_404	CCDS3807.1	4																																																																																			FAM218A	-	NULL	ENSG00000250486		0.569	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM218A	HGNC	protein_coding	OTTHUMT00000364308.1		0	43	0	-	NM_153027		165878578	1	tier1		no_errors	ENST00000513876	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	0.000:0.000	T	T	165878578	-	T	165878577	7	5	87	1	0	1	1	0	0	0	0	0	2275	913	32	0	405	0	C4orf39	4	165878577	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	3414891	165878577	25275699	543	23667											
DDX60	55601	genome.wustl.edu	37	chr4	169167687	169167687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacattggattttatgagtTttcctattttggggaatgga	10	17	11	3	0	0	1	0	1	0	0	1	5	1	4	1	4	1	1	1	4	4	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:169167687T>C	ENST00000393743.3	-	30	4337	c.4046A>G	c.(4045-4047)aAa>aGa	p.K1349R		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1349	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTTATGAGTTTTCCTATTTT	0.458																																																	0													89	90	90					4																	169167687		2203	4300	6503	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.4046A>G	4.37:g.169167687T>C	ENSP00000377344:p.Lys1349Arg		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K1349R	ENST00000393743.3	37	c.4046	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.827830	0.00584	.	.	ENSG00000137628	ENST00000393743	T	0.14766	2.48	5.83	3.38	0.38709	Helicase, C-terminal (1);	0.199289	0.35407	N	0.003225	T	0.05090	0.0136	N	0.05012	-0.13	0.09310	N	0.999999	B	0.15719	0.014	B	0.10450	0.005	T	0.42207	-0.9465	10	0.02654	T	1	.	8.8345	0.35104	0.0:0.2724:0.0:0.7276	.	1349	Q8IY21	DDX60_HUMAN	R	1349	ENSP00000377344:K1349R	ENSP00000377344:K1349R	K	-	2	0	DDX60	169404262	0.926000	0.31397	1.000000	0.80357	0.092000	0.18411	0.370000	0.20433	1.041000	0.40125	-0.371000	0.07208	AAA	DDX60	-	pfscan_Helicase_C	ENSG00000137628		0.458	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	-	0	58	0	T	NM_017631		169167687	-1	tier1	-	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.275	C	C	169167687	T	C	169167687	3	2	87	1	0	0	0	0	1	0	0	0	4387	1841	64	4	1128	4	DDX60	4	169167687	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3289110	169167687	21986589	544	23668											
PALLD	23022	genome.wustl.edu	37	chr4	169611845	169611845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggtccagtggtttcGgcaagggagtgaaatccaag	10	9	14	8	1	1	1	0	1	1	0	4	2	3	2	2	4	1	3	2	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:169611845G>A	ENST00000505667.1	+	7	1600	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	PALLD_ENST00000261509.6_Missense_Mutation_p.R476Q|PALLD_ENST00000335742.7_Missense_Mutation_p.R94Q|PALLD_ENST00000333488.4_Missense_Mutation_p.R353Q|PALLD_ENST00000512127.1_Missense_Mutation_p.R94Q			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	476	Ig-like C2-type 2.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGTGGTTTCGGCAAGGGAGT	0.532									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													87	97	94					4																	169611845		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1427G>A	4.37:g.169611845G>A	ENSP00000425556:p.Arg476Gln		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R476Q	ENST00000505667.1	37	c.1427	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.305859	0.95629	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000508898;ENST00000333488;ENST00000512127;ENST00000503457	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.81	5.81	0.92471	.	0.000000	0.29389	U	0.012289	D	0.85725	0.5763	M	0.80508	2.5	0.46798	D	0.999204	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.986;0.999	D	0.85038	0.0921	10	0.48119	T	0.1	.	20.0736	0.97735	0.0:0.0:1.0:0.0	.	476;94;476	B7ZMM5;B3KTG2;B2RTX2	.;.;.	Q	476;94;476;455;353;94;94	ENSP00000261509:R476Q;ENSP00000336735:R94Q;ENSP00000425556:R476Q;ENSP00000423063:R455Q;ENSP00000328945:R353Q;ENSP00000426947:R94Q;ENSP00000424288:R94Q	ENSP00000261509:R476Q	R	+	2	0	PALLD	169848420	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.607000	0.82883	2.742000	0.94016	0.650000	0.86243	CGG	PALLD	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000129116		0.532	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	-	0	72	0	G	NM_016081		169611845	1	tier1	-	no_errors	ENST00000261509	ensembl	human	known	74_37	missense	14.29	60	10	SNP	1.000	A	A	169611845	G	A	169611845	3	1	87	1	0	0	0	0	1	0	0	0	11446	1116	39	1	1449	1	PALLD	4	169611845	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	444158	169611845	21542431	545	23669											
PALLD	23022	genome.wustl.edu	37	chr4	169812208	169812208	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgaacaatggccagccGgtactgatagatttgggacc	10	9	11	11	1	0	3	0	2	0	1	1	4	1	4	4	3	3	1	4	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:169812208G>T	ENST00000505667.1	+	11	2273	c.2100G>T	c.(2098-2100)ccG>ccT	p.P700P	PALLD_ENST00000261509.6_Splice_Site_p.P700P|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000335742.7_Splice_Site_p.P542P|PALLD_ENST00000507735.1_Splice_Site_p.P213P|PALLD_ENST00000512127.1_Splice_Site_p.P318P			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	924	Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATGGCCAGCCGGTACTGATAG	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													65	64	65					4																	169812208		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2100+1G>T	4.37:g.169812208G>T			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P700	ENST00000505667.1	37	c.2100	CCDS54818.1	4																																																																																			PALLD	-	NULL	ENSG00000129116		0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1		0	17	0	G	NM_016081	Silent	169812208	1			no_errors	ENST00000261509	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	T	T	169812208	G	T	169812208	5	4	87	1	0	0	0	0	0	0	1	0	11446	1130	39	2	2645	2	PALLD	4	169812208	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	200363	169812208	21342068	546	23670											
NEIL3	55247	genome.wustl.edu	37	chr4	178283532	178283532	+	Frame_Shift_Del	DEL	T	T	-																															ggacctaacaatggaaagaaTttttttgtgtgtcctcttgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:178283532delT	ENST00000264596.3	+	10	1843	c.1725delT	c.(1723-1725)aatfs	p.N575fs		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	575					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		ATGGAAAGAATTTTTTTGTGT	0.403								Base excision repair (BER), DNA glycosylases																																									0													94	100	97					4																	178283532		2203	4299	6502	SO:0001589	frameshift_variant	0			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"zinc finger, GRF-type containing 3"	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1725delT	4.37:g.178283532delT	ENSP00000264596:p.Asn575fs		Q2PPJ3|Q8NG51|Q9NV95	Frame_Shift_Del	DEL	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.F577fs	ENST00000264596.3	37	c.1725	CCDS3828.1	4																																																																																			NEIL3	-	pfam_Znf_GRF	ENSG00000109674		0.403	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1		0	66	0	T	NM_018248		178283532	1	tier1		no_errors	ENST00000264596	ensembl	human	known	74_37	frame_shift_del	20.00	44	11	DEL	0.884	-	-	178283532	T	-	178283532	7	5	87	1	0	1	0	1	0	0	0	0	10359	1490	52	0	1763	0	NEIL3	4	178283532	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	8471324	178283532	12870744	547	23671											
AGA	175	genome.wustl.edu	37	chr4	178355571	178355571	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaatatatcaccattcccAgtggctgcggctgcccctgc	8	10	8	15	1	2	0	2	0	0	0	3	0	3	0	4	2	3	2	4	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:178355571A>G	ENST00000264595.2	-	7	898	c.771T>C	c.(769-771)acT>acC	p.T257T	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	257	Substrate binding.		T -> I (in AGU). {ECO:0000269|PubMed:11309371}.		protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CACCATTCCCAGTGGCTGCGG	0.448																																																	0													117	115	116					4																	178355571		2203	4300	6503	SO:0001819	synonymous_variant	0			X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"glycosylasparaginase", "N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.771T>C	4.37:g.178355571A>G			B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Silent	SNP	pfam_Peptidase_T2	p.T257	ENST00000264595.2	37	c.771	CCDS3829.1	4																																																																																			AGA	-	pfam_Peptidase_T2	ENSG00000038002		0.448	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGA	HGNC	protein_coding	OTTHUMT00000361916.1	-	0	42	0	A	NM_000027		178355571	-1	tier1	-	no_errors	ENST00000264595	ensembl	human	known	74_37	silent	25.76	49	17	SNP	0.248	G	G	178355571	A	G	178355571	2	3	87	1	0	0	0	0	0	0	0	1	365	175	7	4		4	AGA	4	178355571	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	72039	178355571	12798705	548	23672											
ODZ3	55714	genome.wustl.edu	37	chr4	183714347	183714347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgtctgacaccccttcgCtatgacctgcgagacagaat	9	8	10	14	4	1	4	0	2	1	2	2	5	1	4	3	0	1	1	3	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:183714347C>T	ENST00000511685.1	+	26	6645	c.6522C>T	c.(6520-6522)cgC>cgT	p.R2174R	TENM3_ENST00000406950.2_Silent_p.R2174R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2174					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CACCCCTTCGCTATGACCTGC	0.448																																																	0													117	115	116					4																	183714347		2002	4179	6181	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6522C>T	4.37:g.183714347C>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R2174	ENST00000511685.1	37	c.6522	CCDS47165.1	4																																																																																			TENM3	-	superfamily_Cyt_c-like_dom	ENSG00000218336		0.448	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	35	0	C			183714347	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	silent	26.92	19	7	SNP	1.000	T	T	183714347	C	T	183714347	2	4	87	1	0	0	0	0	0	0	0	1	10875	784	28	3		3	ODZ3	4	183714347	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5358776	183714347	7439929	549	23673											
WWC2	80014	genome.wustl.edu	37	chr4	184203860	184203860	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttgttttaccataGgctaacaatgctaagagagg	11	16	9	5	0	0	1	0	0	0	1	0	2	0	1	1	2	3	4	1	2	5	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:184203860G>T	ENST00000403733.3	+	18	2883		c.e18-1		WWC2_ENST00000448232.2_Splice_Site|WWC2_ENST00000513834.1_Splice_Site|WWC2_ENST00000504005.1_Splice_Site|WWC2_ENST00000508747.1_Missense_Mutation_p.R23M	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TTTTACCATAGGCTAACAATG	0.413																																																	0													38	37	37					4																	184203860		2199	4296	6495	SO:0001630	splice_region_variant	0			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"WW, C2 and coiled-coil domain containing"	24148	protein-coding gene	gene with protein product			"WW, C2 and coiled-coil domain containing 2"			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.2685-1G>T	4.37:g.184203860G>T			Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Splice_Site	SNP	-	e18-1	ENST00000403733.3	37	c.2757-1	CCDS34109.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.44|14.44	2.534704|2.534704	0.45073|0.45073	.|.	.|.	ENSG00000151718|ENSG00000151718	ENST00000403733;ENST00000513834;ENST00000448232;ENST00000504005|ENST00000508747	.|T	.|0.24908	.|1.83	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47691	.|0.1459	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|P	.|0.60473	.|0.875	.|T	.|0.47661	.|-0.9100	.|8	.|0.59425	.|D	.|0.04	.|.	16.6779|16.6779	0.85284|0.85284	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|23	.|Q6AWC2-7	.|.	.|M	-1|23	.|ENSP00000420835:R23M	.|ENSP00000420835:R23M	.|R	+|+	.|2	.|0	WWC2|WWC2	184440854|184440854	1.000000|1.000000	0.71417|0.71417	0.259000|0.259000	0.24435|0.24435	0.205000|0.205000	0.24178|0.24178	5.852000|5.852000	0.69488|0.69488	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	.|AGG	WWC2	-	-	ENSG00000151718		0.413	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC2	HGNC	protein_coding	OTTHUMT00000319608.1	-	0	55	0	G	NM_024949	Intron	184203860	1	tier1	-	no_errors	ENST00000448232	ensembl	human	known	74_37	splice_site	10.00	36	4	SNP	0.953	T	T	184203860	G	T	184203860	5	4	87	1	0	0	0	0	0	0	1	0	17461	1014	35	3	2754	3	WWC2	4	184203860	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	489513	184203860	6950416	550	23674											
C4orf41	60684	genome.wustl.edu	37	chr4	184605469	184605469	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctttatagtggttcagatgGgagaggaatattattacgca	12	13	11	5	1	1	2	1	0	0	2	1	4	1	3	1	3	1	2	1	3	6	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:184605469G>T	ENST00000334690.6	+	14	1580	c.1378G>T	c.(1378-1380)Gga>Tga	p.G460*	TRAPPC11_ENST00000512476.1_Nonsense_Mutation_p.G66*|TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.G460*	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	460					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											GGTTCAGATGGGAGAGGAATA	0.333																																																	0													84	86	85					4																	184605469		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"Trafficking protein particle complex"	25751	protein-coding gene	gene with protein product	"gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)"	614138	"chromosome 4 open reading frame 41"	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.1378G>T	4.37:g.184605469G>T	ENSP00000335371:p.Gly460*		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Nonsense_Mutation	SNP	pfam_Foie-gras_1,pfam_DUF1683_C	p.G460*	ENST00000334690.6	37	c.1378	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.001760	0.97994	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109;ENST00000512476	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.2985	0.60311	0.0722:0.0:0.9278:0.0	.	.	.	.	X	460;460;460;66	.	ENSP00000335371:G460X	G	+	1	0	C4orf41	184842463	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.003000	0.88520	2.749000	0.94314	0.460000	0.39030	GGA	TRAPPC11	-	pfam_Foie-gras_1	ENSG00000168538		0.333	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	HGNC	protein_coding	OTTHUMT00000361654.2	-	0	32	0	G	NM_021942		184605469	1	tier1	-	no_errors	ENST00000334690	ensembl	human	known	74_37	nonsense	13.64	38	6	SNP	1.000	T	T	184605469	G	T	184605469	4	4	87	1	0	0	0	0	0	1	0	0	2277	1233	43	3	1428	3	C4orf41	4	184605469	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	401609	184605469	6548807	551	23675											
SORBS2	8470	genome.wustl.edu	37	chr4	186544439	186544439	+	Frame_Shift_Del	DEL	T	T	-																															tctgtttcttaggagccgaaTtttttttcctccggaaaggc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:186544439delT	ENST00000284776.7	-	13	2641	c.2132delA	c.(2131-2133)aatfs	p.N711fs	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Frame_Shift_Del_p.N711fs|SORBS2_ENST00000418609.1_Frame_Shift_Del_p.N615fs|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Frame_Shift_Del_p.N811fs|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	711					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGCCGAATTTTTTTTCCT	0.448																																					Esophageal Squamous(153;41 2433 9491 36028)												0													125	138	134					4																	186544439		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2132delA	4.37:g.186544439delT	ENSP00000284776:p.Asn711fs		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.N711fs	ENST00000284776.7	37	c.2132	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.448	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0	54	0	T	NM_003603		186544439	-1	tier1		no_errors	ENST00000284776	ensembl	human	known	74_37	frame_shift_del	10.64	42	5	DEL	0.203	-	-	186544439	T	-	186544439	7	5	87	1	0	1	0	1	0	0	0	0	14973	1493	52	0	1206	0	SORBS2	4	186544439	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	1938970	186544439	4609837	552	23676											
SORBS2	8470	genome.wustl.edu	37	chr4	186545131	186545131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgctgctgctcgctctcGtactgcagaatcctggactt	5	14	10	12	2	1	1	0	0	1	1	4	2	2	2	1	1	5	6	1	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr4:186545131G>A	ENST00000284776.7	-	13	1949	c.1440C>T	c.(1438-1440)taC>taT	p.Y480Y	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000431808.1_Silent_p.Y480Y|SORBS2_ENST00000418609.1_Silent_p.Y384Y|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Silent_p.Y580Y|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	480					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTCGCTCTCGTACTGCAGAA	0.597																																					Esophageal Squamous(153;41 2433 9491 36028)												0													90	82	85					4																	186545131		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1440C>T	4.37:g.186545131G>A			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.Y480	ENST00000284776.7	37	c.1440	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.597	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	-	0	38	0	G	NM_003603		186545131	-1	tier1	-	no_errors	ENST00000284776	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.364	A	A	186545131	G	A	186545131	2	1	87	1	0	0	0	0	0	0	0	1	14973	1140	40	1		1	SORBS2	4	186545131	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	692	186545131	4609145	553	23677											
IRX4	50805	genome.wustl.edu	37	chr5	1878502	1878502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcagggaggtggcggCggcggcggcggcggtggctg	2	5	24	10	6	1	0	1	0	0	0	1	1	1	1	0	11	0	2	0	11	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:1878502C>T	ENST00000505790.1	-	6	1597	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	IRX4_ENST00000513692.1_Missense_Mutation_p.A381T|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_Missense_Mutation_p.A381T	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	381	Poly-Ala.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GAggtggcggcggcggcggcg	0.741																																																	0													2	4	4					5																	1878502		1603	3318	4921	SO:0001583	missense	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.1141G>A	5.37:g.1878502C>T	ENSP00000423161:p.Ala381Thr		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A381T	ENST00000505790.1	37	c.1141	CCDS3867.1	5	.	.	.	.	.	.	.	.	.	.	N	7.511	0.654616	0.14580	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	T;T;T	0.67171	-0.25;-0.25;-0.25	2.22	2.22	0.28083	.	.	.	.	.	T	0.41026	0.1141	N	0.08118	0	0.22424	N	0.99911	B	0.10296	0.003	B	0.04013	0.001	T	0.21861	-1.0233	9	0.34782	T	0.22	.	4.2285	0.10592	0.0:0.1728:0.0:0.8272	.	381	P78413	IRX4_HUMAN	T	381	ENSP00000231357:A381T;ENSP00000423161:A381T;ENSP00000424235:A381T	ENSP00000231357:A381T	A	-	1	0	IRX4	1931502	1.000000	0.71417	0.663000	0.29738	0.081000	0.17604	2.669000	0.46825	0.291000	0.22468	-0.593000	0.04111	GCC	IRX4	-	NULL	ENSG00000113430		0.741	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	-	0	28	0	C	NM_016358		1878502	-1	tier1	-	no_errors	ENST00000231357	ensembl	human	known	74_37	missense	20.00	19	5	SNP	0.771	T	T	1878502	C	T	1878502	3	4	87	1	0	0	0	0	1	0	0	0	7873	768	27	1	422	1	IRX4	5	1878502	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09		1878502	179036758	554	23678											
KIAA0947	23379	genome.wustl.edu	37	chr5	5486837	5486837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttgtttcccctaggtcGtttaggccaattgggtttga	5	17	12	7	1	0	1	0	1	0	0	2	1	1	1	3	4	0	4	3	4	3	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:5486837G>A	ENST00000296564.7	+	18	6746	c.6524G>A	c.(6523-6525)cGt>cAt	p.R2175H		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2175					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCCCTAGGTCGTTTAGGCCAA	0.358																																																	0													81	75	76					5																	5486837		1828	4078	5906	SO:0001583	missense	0																														ENST00000296564.7:c.6524G>A	5.37:g.5486837G>A	ENSP00000296564:p.Arg2175His		Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.R2175H	ENST00000296564.7	37	c.6524	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266360	0.80358	.	.	ENSG00000164151	ENST00000296564	T	0.13307	2.6	5.69	5.69	0.88448	.	.	.	.	.	T	0.35335	0.0928	M	0.61703	1.905	0.49299	D	0.999779	D	0.89917	1.0	D	0.81914	0.995	T	0.01977	-1.1236	9	0.87932	D	0	-11.422	15.3121	0.74042	0.0:0.0:1.0:0.0	.	2175	Q9Y2F5	K0947_HUMAN	H	2175	ENSP00000296564:R2175H	ENSP00000296564:R2175H	R	+	2	0	KIAA0947	5539837	1.000000	0.71417	0.961000	0.40146	0.799000	0.45148	4.432000	0.59922	2.685000	0.91497	0.655000	0.94253	CGT	KIAA0947	-	NULL	ENSG00000164151		0.358	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	-	0	79	0	G			5486837	1	tier1	-	no_errors	ENST00000296564	ensembl	human	known	74_37	missense	25.93	60	21	SNP	0.994	A	A	5486837	G	A	5486837	3	1	87	1	0	0	0	0	1	0	0	0	8229	1145	40	1	6594	1	KIAA0947	5	5486837	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3608335	5486837	175428423	555	23679											
CCT5	22948	genome.wustl.edu	37	chr5	10256197	10256197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacaagatcagcgatagCgtccttgttgacataaagga	13	9	11	8	2	1	2	1	1	0	1	2	5	2	4	1	2	2	1	1	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:10256197C>T	ENST00000280326.4	+	4	882	c.462C>T	c.(460-462)agC>agT	p.S154S	CCT5_ENST00000515676.1_Silent_p.S116S|CCT5_ENST00000515390.1_Silent_p.S99S|CCT5_ENST00000503026.1_Silent_p.S133S|CCT5_ENST00000506600.1_Silent_p.S61S	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	154					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCAGCGATAGCGTCCTTGTTG	0.478																																																	0													96	74	82					5																	10256197		2203	4300	6503	SO:0001819	synonymous_variant	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.462C>T	5.37:g.10256197C>T			A8JZY8|A8K2X8|B4DYD8	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.S154	ENST00000280326.4	37	c.462	CCDS3877.1	5																																																																																			CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.478	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2		0	19	0	C			10256197	1			no_errors	ENST00000280326	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.005	T	T	10256197	C	T	10256197	2	4	87	1	0	0	0	0	0	0	0	1	2963	767	27	1		1	CCT5	5	10256197	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4769360	10256197	170659063	556	23680											
MARCH6	10299	genome.wustl.edu	37	chr5	10402530	10402530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaatttcatagatctcGtcgcttactgggagtctgct	8	15	10	8	2	3	2	1	1	2	1	5	3	3	3	0	1	2	2	0	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:10402530G>A	ENST00000274140.5	+	13	1220	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	MARCH6_ENST00000510792.1_Missense_Mutation_p.R61H|MARCH6_ENST00000449913.2_Missense_Mutation_p.R315H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R258H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	363					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R363H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CATAGATCTCGTCGCTTACTG	0.373																																																	1	Substitution - Missense(1)	large_intestine(1)											234	223	227					5																	10402530		2203	4300	6503	SO:0001583	missense	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1088G>A	5.37:g.10402530G>A	ENSP00000274140:p.Arg363His		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R363H	ENST00000274140.5	37	c.1088	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257089	0.59321	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.51071	1.74;0.73;1.74;0.72	5.85	4.98	0.66077	.	0.052606	0.85682	D	0.000000	T	0.54464	0.1860	L	0.52573	1.65	0.80722	D	1	P;D;D	0.76494	0.838;0.999;0.996	B;P;P	0.56700	0.199;0.804;0.731	T	0.50355	-0.8838	10	0.25751	T	0.34	-14.7744	13.2371	0.59974	0.0731:0.0:0.9269:0.0	.	258;315;363	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	H	315;258;363;61	ENSP00000414643:R315H;ENSP00000425930:R258H;ENSP00000274140:R363H;ENSP00000424512:R61H	ENSP00000274140:R363H	R	+	2	0	MARCH6	10455530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.025000	0.76449	1.490000	0.48466	0.655000	0.94253	CGT	MARCH6	-	NULL	ENSG00000145495		0.373	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	-	0	69	0	G	NM_005885		10402530	1	tier1	-	no_errors	ENST00000274140	ensembl	human	known	74_37	missense	13.04	60	9	SNP	1.000	A	A	10402530	G	A	10402530	3	1	87	1	0	0	0	0	1	0	0	0	9343	1145	40	1	1138	1	MARCH6	5	10402530	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	146333	10402530	170512730	557	23681											
DNAH5	1767	genome.wustl.edu	37	chr5	13864702	13864702	+	Frame_Shift_Del	DEL	A	A	-																															caatgatcttcttcaggtccAaaaaagcctgccagtccttc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:13864702delA	ENST00000265104.4	-	28	4504	c.4400delT	c.(4399-4401)ttgfs	p.L1467fs	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1467	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTCAGGTCCAAAAAAGCCTG	0.498									Kartagener syndrome																																								0													57	57	57					5																	13864702		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4400delT	5.37:g.13864702delA	ENSP00000265104:p.Leu1467fs		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1467fs	ENST00000265104.4	37	c.4400	CCDS3882.1	5																																																																																			DNAH5	-	pfam_Dynein_heavy_dom-2	ENSG00000039139		0.498	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	60	0	A	NM_001369		13864702	-1	tier1		no_errors	ENST00000265104	ensembl	human	known	74_37	frame_shift_del	11.11	56	7	DEL	0.990	-	-	13864702	A	-	13864702	7	5	87	1	0	1	0	1	0	0	0	0	4618	131	5	0	9682	0	DNAH5	5	13864702	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	3462172	13864702	167050558	558	23682											
TRIO	7204	genome.wustl.edu	37	chr5	14368970	14368970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagatcgcctcaagctcGtcaacgcctctgtcgctttc	7	11	9	14	4	3	1	2	0	1	1	7	2	3	2	2	1	2	2	2	1	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:14368970G>A	ENST00000344204.4	+	17	3052	c.3028G>A	c.(3028-3030)Gtc>Atc	p.V1010I	TRIO_ENST00000537187.1_Missense_Mutation_p.V1010I|TRIO_ENST00000509967.2_Missense_Mutation_p.V961I	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1010					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTCAAGCTCGTCAACGCCTC	0.512																																																	0													154	135	142					5																	14368970		2203	4300	6503	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3028G>A	5.37:g.14368970G>A	ENSP00000339299:p.Val1010Ile		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V1010I	ENST00000344204.4	37	c.3028	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203497	0.79127	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.67698	-0.28;-0.28;0.42	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	L	0.28400	0.85	0.80722	D	1	D;D;D	0.76494	0.973;0.985;0.999	P;P;D	0.79784	0.606;0.743;0.993	T	0.70407	-0.4880	10	0.32370	T	0.25	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	961;1010;1010	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	I	1010;1010;961;697	ENSP00000339299:V1010I;ENSP00000446348:V1010I;ENSP00000445592:V961I	ENSP00000339299:V1010I	V	+	1	0	TRIO	14421970	1.000000	0.71417	0.986000	0.45419	0.951000	0.60555	9.869000	0.99810	2.873000	0.98535	0.563000	0.77884	GTC	TRIO	-	smart_Spectrin/alpha-actinin	ENSG00000038382		0.512	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0	52	0	G	NM_007118		14368970	1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	14.81	46	8	SNP	1.000	A	A	14368970	G	A	14368970	3	1	87	1	0	0	0	0	1	0	0	0	16600	1145	40	1	3094	1	TRIO	5	14368970	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	504268	14368970	166546290	559	23683											
CDH18	1016	genome.wustl.edu	37	chr5	19483637	19483638	+	Frame_Shift_Ins	INS	-	-	T																															tcgactaaatctcctccgccINSttgtcagaatgctggctgtg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:19483637_19483638insT	ENST00000507958.1	-	14	2644_2645	c.1654_1655insA	c.(1654-1656)aggfs	p.R552fs	CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Frame_Shift_Ins_p.R552fs|CDH18_ENST00000274170.4_Frame_Shift_Ins_p.R552fs|CDH18_ENST00000506372.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTCCTCCGCCTTGTCAGAATG	0.431																																																	0																																										SO:0001589	frameshift_variant	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"Cadherins / Major cadherins"	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1655dupA	5.37:g.19483639_19483639dupT	ENSP00000425093:p.Arg552fs		A8K0I2|B4DHG6|Q8N5Z2	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R552fs	ENST00000507958.1	37	c.1655_1654	CCDS3889.1	5																																																																																			CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.431	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1		0	35	0	-	NM_004934		19483638	-1	tier1		no_errors	ENST00000274170	ensembl	human	known	74_37	frame_shift_ins	22.58	24	7	INS	1.000:1.000	T	T	19483638	-	T	19483637	7	5	87	1	0	1	1	0	0	0	0	0	3110	681	24	0	725	0	CDH18	5	19483637	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	5114667	19483637	161431623	560	23684											
PDZD2	23037	genome.wustl.edu	37	chr5	31983543	31983543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcactgagctggagaacggCcctgaccctgaacttggaaa	12	6	12	11	1	0	4	0	3	0	1	0	6	0	5	2	3	4	2	2	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:31983543C>T	ENST00000438447.1	+	3	1147	c.759C>T	c.(757-759)ggC>ggT	p.G253G	PDZD2_ENST00000282493.3_Silent_p.G253G			O15018	PDZD2_HUMAN	PDZ domain containing 2	253					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGAGAACGGCCCTGACCCTG	0.582																																																	0													64	64	64					5																	31983543		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"PDZ domain containing 3"	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.759C>T	5.37:g.31983543C>T			Q9BXD4	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G253	ENST00000438447.1	37	c.759	CCDS34137.1	5																																																																																			PDZD2	-	NULL	ENSG00000133401		0.582	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0	56	0	C			31983543	1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	silent	21.31	47	13	SNP	0.984	T	T	31983543	C	T	31983543	2	4	87	1	0	0	0	0	0	0	0	1	11740	726	26	3		3	PDZD2	5	31983543	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	12499906	31983543	148931717	561	23685											
TARS	6897	genome.wustl.edu	37	chr5	33448779	33448779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcactttgcctgatggtAaacaggttgatgcggaatct	11	12	11	7	1	2	2	1	2	1	0	2	3	2	3	1	3	3	2	1	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:33448779A>G	ENST00000265112.3	+	3	582	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	TARS_ENST00000414361.2_Silent_p.V23V|TARS_ENST00000455217.2_Missense_Mutation_p.K91E|TARS_ENST00000502553.1_Missense_Mutation_p.K91E|TARS_ENST00000541634.1_Intron	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	91					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GCCTGATGGTAAACAGGTTGA	0.383																																																	0													147	134	139					5																	33448779		2203	4300	6503	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.271A>G	5.37:g.33448779A>G	ENSP00000265112:p.Lys91Glu		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.K91E	ENST00000265112.3	37	c.271	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589521	0.66105	.	.	ENSG00000113407	ENST00000502553;ENST00000514259;ENST00000265112;ENST00000455217;ENST00000506040	T;T;T;T	0.50277	0.91;0.75;0.91;0.79	5.94	5.94	0.96194	TGS-like (1);TGS (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.86097	2.795	0.80722	D	1	B;B	0.20368	0.044;0.025	B;B	0.26770	0.039;0.073	T	0.55405	-0.8146	10	0.35671	T	0.21	-32.4149	16.4415	0.83901	1.0:0.0:0.0:0.0	.	91;91	B4DEG8;P26639	.;SYTC_HUMAN	E	91;91;91;91;32	ENSP00000424387:K91E;ENSP00000422130:K91E;ENSP00000265112:K91E;ENSP00000387710:K91E	ENSP00000265112:K91E	K	+	1	0	TARS	33484536	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	7.125000	0.77193	2.285000	0.76669	0.477000	0.44152	AAA	TARS	-	pfam_TGS,superfamily_TGS-like	ENSG00000113407		0.383	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0	29	0	A	NM_152295		33448779	1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	G	G	33448779	A	G	33448779	3	3	87	1	0	0	0	0	1	0	0	0	15606	363	13	4	281	4	TARS	5	33448779	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1465236	33448779	147466481	562	23686											
SPEF2	79925	genome.wustl.edu	37	chr5	35779244	35779244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaattaactgacgtagctCgctatcacattgaaacatct	16	11	5	9	2	2	2	1	2	1	0	3	2	2	2	0	0	3	3	0	0	6	4	rs529179346	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:35779244C>T	ENST00000356031.3	+	30	4397	c.4243C>T	c.(4243-4245)Cgc>Tgc	p.R1415C	SPEF2_ENST00000440995.2_Missense_Mutation_p.R1410C|SPEF2_ENST00000303129.4_5'Flank|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1415					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGACGTAGCTCGCTATCACAT	0.323													C|||	2	0.000399361	0	0	5008	,	,		18001	0		0	False		,,,				2504	0.002																0													54	50	51					5																	35779244		1821	4084	5905	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4243C>T	5.37:g.35779244C>T	ENSP00000348314:p.Arg1415Cys		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.R1415C	ENST00000356031.3	37	c.4243	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566788	0.65651	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08984	3.04;3.03	5.54	5.54	0.83059	.	0.239228	0.40554	N	0.001067	T	0.25531	0.0621	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.66196	0.942;0.877	T	0.00031	-1.2279	10	0.87932	D	0	.	17.4309	0.87539	0.0:1.0:0.0:0.0	.	1410;1415	Q9C093-2;Q9C093	.;SPEF2_HUMAN	C	1415;1410	ENSP00000348314:R1415C;ENSP00000412125:R1410C	ENSP00000348314:R1415C	R	+	1	0	SPEF2	35815001	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	4.574000	0.60900	2.880000	0.98712	0.650000	0.86243	CGC	SPEF2	-	NULL	ENSG00000152582		0.323	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	57	0	C	NM_144722		35779244	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	T	T	35779244	C	T	35779244	3	4	87	1	0	0	0	0	1	0	0	0	15082	884	31	1	4382	1	SPEF2	5	35779244	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2330465	35779244	145136016	563	23687											
NIPBL	25836	genome.wustl.edu	37	chr5	36961634	36961634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaattccatgcacagtaGtcctgcatcttccaattatc	11	13	5	12	0	2	1	1	0	1	1	6	1	5	1	3	0	2	3	3	0	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:36961634G>T	ENST00000282516.8	+	5	906	c.407G>T	c.(406-408)aGt>aTt	p.S136I	NIPBL_ENST00000448238.2_Missense_Mutation_p.S136I|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	136					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATGCACAGTAGTCCTGCATCT	0.328																																																	0													152	150	151					5																	36961634		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.407G>T	5.37:g.36961634G>T	ENSP00000282516:p.Ser136Ile		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S136I	ENST00000282516.8	37	c.407	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842437	0.71488	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95885	-3.83;-3.84	5.01	5.01	0.66863	.	0.112837	0.64402	D	0.000006	D	0.95172	0.8435	M	0.62723	1.935	0.48288	D	0.99962	P;P	0.47191	0.826;0.891	B;P	0.45232	0.282;0.474	D	0.95881	0.8899	10	0.87932	D	0	.	18.2672	0.90055	0.0:0.0:1.0:0.0	.	136;136	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	136	ENSP00000282516:S136I;ENSP00000406266:S136I	ENSP00000282516:S136I	S	+	2	0	NIPBL	36997391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.310000	0.78947	2.481000	0.83766	0.655000	0.94253	AGT	NIPBL	-	NULL	ENSG00000164190		0.328	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	73	0	G	NM_015384		36961634	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	36961634	G	T	36961634	3	4	87	1	0	0	0	0	1	0	0	0	10467	1029	36	3	421	3	NIPBL	5	36961634	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1182390	36961634	143953626	564	23688											
NIPBL	25836	genome.wustl.edu	37	chr5	36985453	36985453	+	Frame_Shift_Del	DEL	C	C	-																															gagtgatgggcatcctgaaaCcccaaaacagaagggtgatg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:36985453delC	ENST00000282516.8	+	10	2670	c.2171delC	c.(2170-2172)accfs	p.T724fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.T724fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	724					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CATCCTGAAACCCCAAAACAG	0.478																																																	0													61	65	64					5																	36985453		2202	4300	6502	SO:0001589	frameshift_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2171delC	5.37:g.36985453delC	ENSP00000282516:p.Thr724fs		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.P725fs	ENST00000282516.8	37	c.2171	CCDS3920.1	5																																																																																			NIPBL	-	NULL	ENSG00000164190		0.478	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1		0	23	0	C	NM_015384		36985453	1	tier1		no_errors	ENST00000282516	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	1.000	-	-	36985453	C	-	36985453	7	5	87	1	0	1	0	1	0	0	0	0	10467	507	18	0	2205	0	NIPBL	5	36985453	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	23819	36985453	143929807	565	23689											
C5orf42	65250	genome.wustl.edu	37	chr5	37224365	37224365	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcttacctttctcttcGatttcttgtagagctttttt	5	22	4	10	1	3	1	0	0	3	1	6	2	3	1	1	0	2	2	1	0	2	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:37224365G>T	ENST00000508244.1	-	13	2664	c.2571C>A	c.(2569-2571)atC>atA	p.I857I	C5orf42_ENST00000425232.2_Silent_p.I857I|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	857						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTTTCTCTTCGATTTCTTGTA	0.323																																																	0													255	186	207					5																	37224365		692	1588	2280	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2571C>A	5.37:g.37224365G>T			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.I857	ENST00000508244.1	37	c.2571	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	61	0	G	NM_023073		37224365	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	silent	18.33	49	11	SNP	0.132	T	T	37224365	G	T	37224365	2	4	87	1	0	0	0	0	0	0	0	1	2308	1048	37	2		2	C5orf42	5	37224365	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	238912	37224365	143690895	566	23690											
EGFLAM	133584	genome.wustl.edu	37	chr5	38464038	38464038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgattaccacatttccctcGtggaagatgccgtggatggg	8	10	12	11	3	0	1	0	0	0	1	2	4	1	3	4	3	2	0	4	3	2	2	rs372253494		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:38464038G>A	ENST00000354891.3	+	23	3350	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	EGFLAM_ENST00000336740.6_Missense_Mutation_p.V760M|EGFLAM_ENST00000514476.1_Missense_Mutation_p.V137M|EGFLAM_ENST00000397210.3_Missense_Mutation_p.V137M|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000322350.5_Missense_Mutation_p.V994M|EGFLAM_ENST00000506135.1_Missense_Mutation_p.V137M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.V360M|CTD-2263F21.1_ENST00000510137.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1002	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATTTCCCTCGTGGAAGATGC	0.493																																					Colon(62;485 1295 3347 17454)												0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	140	108	119		3004,2980,2278,409	5.9	1	5		119	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2,NM_182801.2	21,21,21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1002/1018,994/1010,760/776,137/153	38464038	1,13005	2203	4300	6503	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.3004G>A	5.37:g.38464038G>A	ENSP00000346964:p.Val1002Met		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.V1002M	ENST00000354891.3	37	c.3004	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550865	0.86127	0.0	1.16E-4	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;D;T;T;T	0.83837	0.75;0.57;-1.35;-1.77;-0.06;-0.06;-0.06	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	L	0.31752	0.955	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.943	D;D;D;P	0.76071	0.955;0.987;0.98;0.572	D	0.86202	0.1619	10	0.44086	T	0.13	-2.7359	20.3539	0.98825	0.0:0.0:1.0:0.0	.	360;760;1002;994	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	M	1002;994;760;360;760;137;137;137	ENSP00000346964:V1002M;ENSP00000313084:V994M;ENSP00000337607:V760M;ENSP00000380385:V360M;ENSP00000380393:V137M;ENSP00000425579:V137M;ENSP00000423228:V137M	ENSP00000313084:V994M	V	+	1	0	EGFLAM	38499795	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.290000	0.78711	2.826000	0.97356	0.655000	0.94253	GTG	EGFLAM	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000164318		0.493	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0	40	0	G	NM_152403		38464038	1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	A	A	38464038	G	A	38464038	3	1	87	1	0	0	0	0	1	0	0	0	4980	1145	40	1	3080	1	EGFLAM	5	38464038	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1239673	38464038	142451222	567	23691											
OSMR	9180	genome.wustl.edu	37	chr5	38904107	38904107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtcagattgaactccatgGtgaaggaaaaatgatgcaag	15	9	12	5	0	1	4	1	3	0	1	2	5	2	5	1	2	2	1	1	2	5	1	rs567293590		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:38904107G>A	ENST00000274276.3	+	8	1517	c.1115G>A	c.(1114-1116)gGt>gAt	p.G372D		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAACTCCATGGTGAAGGAAAA	0.338																																																	0													59	61	61					5																	38904107		2203	4299	6502	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1115G>A	5.37:g.38904107G>A	ENSP00000274276:p.Gly372Asp		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G372D	ENST00000274276.3	37	c.1115	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	G	2.918	-0.223799	0.06061	.	.	ENSG00000145623	ENST00000274276	T	0.53206	0.63	5.75	-5.4	0.02656	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.272330	0.05229	N	0.509939	T	0.38719	0.1051	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32241	-0.9914	10	0.37606	T	0.19	.	7.4247	0.27092	0.4547:0.1992:0.3461:0.0	.	372	Q99650	OSMR_HUMAN	D	372	ENSP00000274276:G372D	ENSP00000274276:G372D	G	+	2	0	OSMR	38939864	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.221000	0.09202	-1.092000	0.03062	0.655000	0.94253	GGT	OSMR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000145623		0.338	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	-	0	74	0	G	NM_003999		38904107	1	tier1	-	no_errors	ENST00000274276	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A	A	38904107	G	A	38904107	3	1	87	1	0	0	0	0	1	0	0	0	11331	1261	44	3	1179	3	OSMR	5	38904107	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	440069	38904107	142011153	568	23692											
FYB	2533	genome.wustl.edu	37	chr5	39153687	39153687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagttgttgagtaagaCgtctggcctttgctagtacc	9	12	13	7	1	1	2	0	1	1	1	1	3	1	3	2	2	2	5	2	2	4	6	rs375737931		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:39153687C>T	ENST00000351578.6	-	3	1345	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	FYB_ENST00000540520.1_Silent_p.T395T|FYB_ENST00000505428.1_Silent_p.T385T|FYB_ENST00000512982.1_Silent_p.T385T|FYB_ENST00000515010.1_Silent_p.T385T	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	385	Interaction with SKAP1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTGAGTAAGACGTCTGGCCTT	0.468																																																	0								C	,	0,4112		0,0,2056	205	215	211		1155,1155	-9.3	0	5		211	2,8388		0,2,4193	no	coding-synonymous,coding-synonymous	FYB	NM_001465.4,NM_199335.3	,	0,2,6249	TT,TC,CC		0.0238,0.0,0.016	,	385/830,385/784	39153687	2,12500	2056	4195	6251	SO:0001819	synonymous_variant	0			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1155G>A	5.37:g.39153687C>T			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.T395	ENST00000351578.6	37	c.1185	CCDS47200.1	5																																																																																			FYB	-	NULL	ENSG00000082074		0.468	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	-	0	112	0	C	NM_001465		39153687	-1	tier1	-	no_errors	ENST00000540520	ensembl	human	known	74_37	silent	14.85	86	15	SNP	0.000	T	T	39153687	C	T	39153687	2	4	87	1	0	0	0	0	0	0	0	1	6148	523	19	1		1	FYB	5	39153687	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	249580	39153687	141761573	569	23693											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41038980	41038981	+	Frame_Shift_Ins	INS	-	-	A																															ggtcaggctctttttcccagINSaaaaaaggctctgaagacca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:41038980_41038981insA	ENST00000399564.4	-	21	2521_2522	c.2071_2072insT	c.(2071-2073)tctfs	p.S691fs	MROH2B_ENST00000506092.2_Frame_Shift_Ins_p.S246fs	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	691																	CTTTTTCCCAGAAAAAAGGCTC	0.436																																																	0																																										SO:0001589	frameshift_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2072dupT	5.37:g.41038986_41038986dupA	ENSP00000382476:p.Ser691fs		Q68DM1|Q7Z4U4|Q8N7X3	Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.S691fs	ENST00000399564.4	37	c.2072_2071	CCDS47202.1	5																																																																																			MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.436	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2		0	23	0	-	NM_173489		41038981	-1	tier1		no_errors	ENST00000399564	ensembl	human	known	74_37	frame_shift_ins	27.27	16	6	INS	0.999:0.999	A	A	41038981	-	A	41038980	7	5	87	1	0	1	1	0	0	0	0	0	7062	942	33	0	2773	0	HEATR7B2	5	41038980	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1885293	41038980	139876280	570	23694											
PELO	53918	genome.wustl.edu	37	chr5	52097435	52097435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaggccaatgaagccatgGcaattgacacattgctcatc	14	8	9	10	0	1	3	1	2	0	1	2	3	1	3	2	2	2	2	2	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:52097435G>A	ENST00000274311.2	+	3	1904	c.919G>A	c.(919-921)Gca>Aca	p.A307T	ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_3'UTR|ITGA1_ENST00000504086.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	307					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				TGAAGCCATGGCAATTGACAC	0.493																																																	0													97	83	87					5																	52097435		2203	4300	6503	SO:0001583	missense	0				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"pelota (Drosophila) homolog"			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.919G>A	5.37:g.52097435G>A	ENSP00000274311:p.Ala307Thr		Q9GZS6|Q9Y306	Missense_Mutation	SNP	pfam_eRF1_1_Pelota,pfam_eRF1_2,pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	p.A307T	ENST00000274311.2	37	c.919	CCDS3956.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.246016	0.95272	.	.	ENSG00000152684	ENST00000274311	T	0.74842	-0.88	5.91	5.91	0.95273	eRF1 domain 3 (1);	0.000000	0.85682	U	0.000000	D	0.92338	0.7569	H	0.98370	4.215	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	D	0.94636	0.7826	10	0.87932	D	0	-7.6461	19.9	0.96981	0.0:0.0:1.0:0.0	.	307	Q9BRX2	PELO_HUMAN	T	307	ENSP00000274311:A307T	ENSP00000274311:A307T	A	+	1	0	PELO	52133192	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.609000	0.90898	2.794000	0.96219	0.655000	0.94253	GCA	PELO	-	pfam_eRF1_3,tigrfam_Transl_rel_pelota-like	ENSG00000152684		0.493	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELO	HGNC	protein_coding	OTTHUMT00000214040.1	-	0	47	0	G	NM_015946		52097435	1	tier1	-	no_errors	ENST00000274311	ensembl	human	known	74_37	missense	21.15	41	11	SNP	1.000	A	A	52097435	G	A	52097435	3	1	87	1	0	0	0	0	1	0	0	0	11763	1203	42	3	925	3	PELO	5	52097435	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	11058455	52097435	128817825	571	23695											
MOCS2	4338	genome.wustl.edu	37	chr5	52394449	52394449	+	Frame_Shift_Del	DEL	A	A	-																															tgattaactgttggatgcccAaaagcactctttgtttcctt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:52394449delA	ENST00000396954.3	-	7	1227	c.550delT	c.(550-552)tggfs	p.W184fs	MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000582677.1_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000584946.1_3'UTR	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTGGATGCCCAAAAGCACTCT	0.299																																																	0																																										SO:0001589	frameshift_variant	0			AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.550delT	5.37:g.52394449delA	ENSP00000380157:p.Trp184fs			Frame_Shift_Del	DEL	pfam_Mopterin_biosynth_MoaE,superfamily_Mopterin_biosynth_MoaE	p.W184fs	ENST00000396954.3	37	c.550	CCDS3958.1	5																																																																																			MOCS2	-	superfamily_Mopterin_biosynth_MoaE	ENSG00000164172		0.299	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MOCS2	HGNC	protein_coding	OTTHUMT00000214053.3		0	50	0	A	NM_183418		52394449	-1	tier1		no_errors	ENST00000396954	ensembl	human	known	74_37	frame_shift_del	21.74	54	15	DEL	1.000	-	-	52394449	A	-	52394449	7	5	87	1	0	1	0	1	0	0	0	0	9729	130	5	0	20	0	MOCS2	5	52394449	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	297014	52394449	128520811	572	23696											
MAP3K1	4214	genome.wustl.edu	37	chr5	56177702	56177702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggcatctgttcccaacaActatctggaaaccacagaga	14	7	8	12	0	2	1	0	0	2	1	3	3	3	2	2	2	3	3	2	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:56177702A>G	ENST00000399503.3	+	14	2675	c.2675A>G	c.(2674-2676)aAc>aGc	p.N892S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	892				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTCCCAACAACTATCTGGAA	0.463																																																	0													70	66	68					5																	56177702		1938	4142	6080	SO:0001583	missense	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2675A>G	5.37:g.56177702A>G	ENSP00000382423:p.Asn892Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.N892S	ENST00000399503.3	37	c.2675	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.037092	0.00040	.	.	ENSG00000095015	ENST00000399503	T	0.28454	1.61	5.41	1.37	0.22104	.	2.115110	0.02081	N	0.052341	T	0.22666	0.0547	L	0.43152	1.355	0.24112	N	0.995839	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	10	0.06365	T	0.9	.	3.61	0.08057	0.4662:0.1967:0.3371:0.0	.	892	Q13233	M3K1_HUMAN	S	892	ENSP00000382423:N892S	ENSP00000382423:N892S	N	+	2	0	MAP3K1	56213459	0.995000	0.38212	0.061000	0.19648	0.001000	0.01503	2.096000	0.41738	0.753000	0.32945	-0.242000	0.12053	AAC	MAP3K1	-	NULL	ENSG00000095015		0.463	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	-	0	27	0	A	XM_042066		56177702	1	tier1	-	no_errors	ENST00000399503	ensembl	human	novel	74_37	missense	24.14	22	7	SNP	0.646	G	G	56177702	A	G	56177702	3	3	87	1	0	0	0	0	1	0	0	0	9281	43	2	4	2729	4	MAP3K1	5	56177702	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3783253	56177702	124737558	573	23697											
SLC30A5	64924	genome.wustl.edu	37	chr5	68398896	68398896	+	Frame_Shift_Del	DEL	T	T	-																															tcaatatttacaggactgcaTtttttatggttttgtttcaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:68398896delT	ENST00000396591.3	+	3	824	c.214delT	c.(214-216)tttfs	p.F73fs	SLC30A5_ENST00000380860.4_Frame_Shift_Del_p.F73fs|SLC30A5_ENST00000502979.1_Frame_Shift_Del_p.F32fs	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	73					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CAGGACTGCATTTTTTATGGT	0.279																																																	0																																										SO:0001589	frameshift_variant	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.214delT	5.37:g.68398896delT	ENSP00000379836:p.Phe73fs		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Frame_Shift_Del	DEL	pfam_Cation_efflux,tigrfam_Cation_efflux	p.F73fs	ENST00000396591.3	37	c.214	CCDS3996.1	5																																																																																			SLC30A5	-	NULL	ENSG00000145740		0.279	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2		0	125	0	T			68398896	1	tier1		no_errors	ENST00000396591	ensembl	human	known	74_37	frame_shift_del	22.70	109	32	DEL	0.996	-	-	68398896	T	-	68398896	7	5	87	1	0	1	0	1	0	0	0	0	14603	1493	52	0	224	0	SLC30A5	5	68398896	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	12221194	68398896	112516364	574	23698											
SLC30A5	64924	genome.wustl.edu	37	chr5	68411969	68411969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcgggctatgaacaaaGcagcacaccaggagagcact	14	5	11	11	1	0	2	0	1	0	1	1	3	0	2	1	2	5	5	1	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:68411969G>T	ENST00000396591.3	+	9	1610	c.1000G>T	c.(1000-1002)Gca>Tca	p.A334S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	334					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TATGAACAAAGCAGCACACCA	0.418																																																	0													116	120	119					5																	68411969		2203	4300	6503	SO:0001583	missense	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1000G>T	5.37:g.68411969G>T	ENSP00000379836:p.Ala334Ser		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A334S	ENST00000396591.3	37	c.1000	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331541	0.24167	.	.	ENSG00000145740	ENST00000396591	T	0.62941	-0.01	5.68	2.51	0.30379	.	0.143208	0.64402	D	0.000005	T	0.36358	0.0964	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.24258	0.1;0.073;0.042	B;B;B	0.24394	0.02;0.053;0.015	T	0.16897	-1.0387	10	0.09338	T	0.73	.	16.3229	0.82958	0.0:0.6651:0.3349:0.0	.	163;163;334	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	S	334	ENSP00000379836:A334S	ENSP00000379836:A334S	A	+	1	0	SLC30A5	68447725	1.000000	0.71417	0.980000	0.43619	0.998000	0.95712	3.647000	0.54403	0.806000	0.34183	0.585000	0.79938	GCA	SLC30A5	-	NULL	ENSG00000145740		0.418	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0	49	0	G			68411969	1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.974	T	T	68411969	G	T	68411969	3	4	87	1	0	0	0	0	1	0	0	0	14603	971	34	3	1122	3	SLC30A5	5	68411969	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	13073	68411969	112503291	575	23699											
MRPS27	23107	genome.wustl.edu	37	chr5	71528293	71528293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgtcttctttgccaGgcaatgaaataaaacataga	15	11	8	7	0	3	2	0	1	3	1	3	3	3	2	1	1	2	1	1	1	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:71528293G>T	ENST00000261413.5	-	7	607	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L204M|MRPS27_ENST00000515404.1_Missense_Mutation_p.L134M|MRPS27_ENST00000457646.4_Missense_Mutation_p.L134M	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	190						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTCTTTGCCAGGCAATGAAAT	0.418																																																	0													89	84	85					5																	71528293		2203	4300	6503	SO:0001583	missense	0			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"Mitochondrial ribosomal proteins / small subunits"	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.568C>A	5.37:g.71528293G>T	ENSP00000261413:p.Leu190Met		B4DRT2|Q6P1S1	Missense_Mutation	SNP	pfam_Ribosomal_S27_mit	p.L204M	ENST00000261413.5	37	c.610	CCDS4013.1	5	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714233	0.68730	.	.	ENSG00000113048	ENST00000261413;ENST00000457646;ENST00000513900;ENST00000508863;ENST00000515404	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	6.06	6.06	0.98353	.	0.071383	0.64402	D	0.000017	T	0.71787	0.3381	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;0.962;1.0	D;P;D	0.97110	1.0;0.726;1.0	T	0.70749	-0.4787	10	0.45353	T	0.12	-14.6427	14.7385	0.69434	0.0685:0.0:0.9315:0.0	.	204;134;190	B4DRT2;D6RJC7;Q92552	.;.;RT27_HUMAN	M	190;134;204;134;134	ENSP00000261413:L190M;ENSP00000428120:L134M;ENSP00000426941:L204M;ENSP00000426176:L134M;ENSP00000427237:L134M	ENSP00000261413:L190M	L	-	1	2	MRPS27	71564049	1.000000	0.71417	0.994000	0.49952	0.500000	0.33767	5.559000	0.67326	2.871000	0.98454	0.655000	0.94253	CTG	MRPS27	-	pfam_Ribosomal_S27_mit	ENSG00000113048		0.418	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	-	0	41	0	G	NM_015084		71528293	-1	tier1	-	no_errors	ENST00000513900	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	71528293	G	T	71528293	3	4	87	1	0	0	0	0	1	0	0	0	9876	991	35	3	696	3	MRPS27	5	71528293	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3116324	71528293	109386967	576	23700											
RGNEF	64283	genome.wustl.edu	37	chr5	73181702	73181702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaacataaagacttacGcaaagcgctttgcttaatta	15	11	8	7	2	0	2	0	1	0	1	0	3	0	3	0	1	4	3	0	1	7	5	rs199636589		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:73181702G>A	ENST00000426542.2	+	24	3103	c.3083G>A	c.(3082-3084)cGc>cAc	p.R1028H	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R715H|ARHGEF28_ENST00000512883.1_5'Flank|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1028H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1028H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1028	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AAAGACTTACGCAAAGCGCTT	0.318																																																	0								G	HIS/ARG,HIS/ARG	1,3629		0,1,1814	49	47	48		3083,3083	4.9	1	5		48	3,8159		0,3,4078	yes	missense,missense	RGNEF	NM_001080479.2,NM_001177693.1	29,29	0,4,5892	AA,AG,GG		0.0368,0.0275,0.0339	benign,benign	1028/1732,1028/1706	73181702	4,11788	1815	4081	5896	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3083G>A	5.37:g.73181702G>A	ENSP00000412175:p.Arg1028His		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R1028H	ENST00000426542.2	37	c.3083	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517728	0.44763	2.75E-4	3.68E-4	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.74	4.86	0.63082	Dbl homology (DH) domain (5);	.	.	.	.	T	0.46132	0.1377	N	0.14661	0.345	0.25095	N	0.990826	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.31668	-0.9935	9	0.46703	T	0.11	.	12.4145	0.55486	0.1322:0.0:0.8678:0.0	.	715;1028;1028;1028	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	H	1028;1028;1028;1028;1028;1028;715	ENSP00000296794:R1028H;ENSP00000441913:R1028H;ENSP00000441436:R1028H;ENSP00000287898:R1028H;ENSP00000411459:R1028H;ENSP00000412175:R1028H;ENSP00000296799:R715H	ENSP00000287898:R1028H	R	+	2	0	RP11-428C6.1	73217458	0.999000	0.42202	0.994000	0.49952	0.658000	0.38924	3.015000	0.49599	2.702000	0.92279	0.655000	0.94253	CGC	ARHGEF28	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000214944		0.318	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1		0	22	0	G			73181702	1			no_errors	ENST00000545377	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.998	A	A	73181702	G	A	73181702	3	1	87	1	0	0	0	0	1	0	0	0	13328	1087	38	1	3177	1	RGNEF	5	73181702	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1653409	73181702	107733558	577	23701											
IQGAP2	10788	genome.wustl.edu	37	chr5	75967685	75967685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggacagaacaccctgcGccaactcctggctccagtgg	8	5	12	16	2	0	1	0	0	0	1	2	2	2	2	5	4	3	1	5	4	2	0	rs537445542		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:75967685G>A	ENST00000274364.6	+	24	3242	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	IQGAP2_ENST00000379730.3_Missense_Mutation_p.R484H|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R478H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R478H	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	982	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)	p.R982H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACACCCTGCGCCAACTCCTG	0.498													G|||	1	0.000199681	0	0	5008	,	,		15934	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											70	72	71					5																	75967685		2203	4300	6503	SO:0001583	missense	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.2945G>A	5.37:g.75967685G>A	ENSP00000274364:p.Arg982His		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP	p.R982H	ENST00000274364.6	37	c.2945	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.606284	0.96626	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32	5.81	5.81	0.92471	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.046965	0.85682	D	0.000000	D	0.91533	0.7326	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.934;0.986;0.954;0.96	D	0.92164	0.5738	10	0.87932	D	0	-11.2809	20.0557	0.97650	0.0:0.0:1.0:0.0	.	484;932;478;982	F5H7S7;E7EWC2;Q13576-2;Q13576	.;.;.;IQGA2_HUMAN	H	982;484;932;478;478	ENSP00000274364:R982H;ENSP00000442313:R484H;ENSP00000421097:R932H;ENSP00000379535:R478H;ENSP00000426027:R478H	ENSP00000274364:R982H	R	+	2	0	IQGAP2	76003441	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.062000	0.89475	2.741000	0.93983	0.591000	0.81541	CGC	IQGAP2	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145703		0.498	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	-	0	58	0	G	NM_006633		75967685	1	tier1	-	no_errors	ENST00000274364	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	A	A	75967685	G	A	75967685	3	1	87	1	0	0	0	0	1	0	0	0	7842	1087	38	1	3039	1	IQGAP2	5	75967685	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2785983	75967685	104947575	578	23702											
ANKRD34B	340120	genome.wustl.edu	37	chr5	79855769	79855769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcaaaagtcttgtgaggcGaagccggctctgatggactg	10	9	14	8	2	2	2	0	2	2	0	2	4	2	3	1	3	2	2	1	3	4	2	rs201133010	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:79855769G>A	ENST00000338682.3	-	5	742	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	24						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTTGTGAGGCGAAGCCGGCTC	0.453																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	59	61	60		70	5.9	1	5		60	7,8593	5.7+/-21.5	0,7,4293	yes	missense	ANKRD34B	NM_001004441.2	180	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	probably-damaging	24/515	79855769	8,12998	2203	4300	6503	SO:0001583	missense	0				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"Ankyrin repeat domain containing"	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.70C>T	5.37:g.79855769G>A	ENSP00000339802:p.Arg24Cys		B2RPH1|Q68D79	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R24C	ENST00000338682.3	37	c.70	CCDS34194.1	5	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176055	0.78564	2.27E-4	8.14E-4	ENSG00000189127	ENST00000338682	T	0.34667	1.35	5.92	5.92	0.95590	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	T	0.55417	0.1919	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53961	-0.8364	10	0.87932	D	0	-14.3196	18.8987	0.92433	0.0:0.0:1.0:0.0	.	24	A5PLL1	AN34B_HUMAN	C	24	ENSP00000339802:R24C	ENSP00000339802:R24C	R	-	1	0	ANKRD34B	79891525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.664000	0.61540	2.813000	0.96785	0.561000	0.74099	CGC	ANKRD34B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000189127		0.453	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34B	HGNC	protein_coding	OTTHUMT00000369475.1	-	0	47	0	G	NM_001004441		79855769	-1	tier1	rs201133010	no_errors	ENST00000338682	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	A	A	79855769	G	A	79855769	3	1	87	1	0	0	0	0	1	0	0	0	663	1058	37	1	1478	1	ANKRD34B	5	79855769	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3888084	79855769	101059491	579	23703											
RASA1	5921	genome.wustl.edu	37	chr5	86669996	86669996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggtcagcagccttgtttTacatattgaagaagcccata	12	13	8	8	0	1	2	1	1	0	1	1	2	1	2	2	1	4	2	2	1	6	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:86669996T>C	ENST00000274376.6	+	14	2357	c.1793T>C	c.(1792-1794)tTa>tCa	p.L598S	RASA1_ENST00000456692.2_Missense_Mutation_p.L421S|RASA1_ENST00000506290.1_Missense_Mutation_p.L432S|RASA1_ENST00000512763.1_Missense_Mutation_p.L431S|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	598	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGCCTTGTTTTACATATTGAA	0.308																																																	0													48	45	46					5																	86669996		2202	4299	6501	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1793T>C	5.37:g.86669996T>C	ENSP00000274376:p.Leu598Ser		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.L598S	ENST00000274376.6	37	c.1793	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303232	0.81136	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.7	5.7	0.88788	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;1.0	D;D;D;D;D	0.80764	0.991;0.989;0.991;0.984;0.994	D	0.85839	0.1396	10	0.87932	D	0	.	15.9734	0.80040	0.0:0.0:0.0:1.0	.	432;431;432;421;598	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	S	598;631;421;431;432	ENSP00000274376:L598S;ENSP00000411221:L421S;ENSP00000422008:L431S;ENSP00000420905:L432S	ENSP00000274376:L598S	L	+	2	0	RASA1	86705752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.180000	0.69256	0.454000	0.30748	TTA	RASA1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000145715		0.308	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0	53	0	T	NM_002890		86669996	1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C	C	86669996	T	C	86669996	3	2	87	1	0	0	0	0	1	0	0	0	13105	1764	61	4	1859	4	RASA1	5	86669996	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	6814227	86669996	94245264	580	23704											
RASA1	5921	genome.wustl.edu	37	chr5	86675571	86675571	+	Frame_Shift_Del	DEL	A	A	-																															gttaagtccatcaaagttagAaaaaaatgaagatgtgaaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:86675571delA	ENST00000274376.6	+	19	3071	c.2507delA	c.(2506-2508)gaafs	p.E836fs	RASA1_ENST00000456692.2_Frame_Shift_Del_p.E659fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.E670fs|RASA1_ENST00000512763.1_Frame_Shift_Del_p.E669fs|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	836	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCAAAGTTAGAAAAAAATGAA	0.308																																																	0													75	76	76					5																	86675571		2203	4296	6499	SO:0001589	frameshift_variant	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2507delA	5.37:g.86675571delA	ENSP00000274376:p.Glu836fs		B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.N838fs	ENST00000274376.6	37	c.2507	CCDS34200.1	5																																																																																			RASA1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145715		0.308	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1		0	50	0	A	NM_002890		86675571	1	tier1		no_errors	ENST00000274376	ensembl	human	known	74_37	frame_shift_del	14.71	29	5	DEL	1.000	-	-	86675571	A	-	86675571	7	5	87	1	0	1	0	1	0	0	0	0	13105	246	9	0	2593	0	RASA1	5	86675571	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	5575	86675571	94239689	581	23705											
RASA1	5921	genome.wustl.edu	37	chr5	86675607	86675607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacactaatttaacacaccTattgaacatactttcagagc	16	11	4	10	0	1	2	1	1	0	1	1	3	1	2	1	0	5	0	1	0	6	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:86675607T>C	ENST00000274376.6	+	19	3107	c.2543T>C	c.(2542-2544)cTa>cCa	p.L848P	RASA1_ENST00000456692.2_Missense_Mutation_p.L671P|RASA1_ENST00000506290.1_Missense_Mutation_p.L682P|RASA1_ENST00000512763.1_Missense_Mutation_p.L681P|CTC-428H11.2_ENST00000607486.1_RNA	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	848	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTAACACACCTATTGAACATA	0.313																																																	0													86	87	87					5																	86675607		2203	4296	6499	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2543T>C	5.37:g.86675607T>C	ENSP00000274376:p.Leu848Pro		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.L848P	ENST00000274376.6	37	c.2543	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229726	0.79688	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.98	4.98	0.66077	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.143803	0.47093	D	0.000257	T	0.77651	0.4162	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.85109	0.0962	10	0.87932	D	0	.	14.9763	0.71277	0.0:0.0:0.0:1.0	.	682;681;682;671;848	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	P	848;671;681;682	ENSP00000274376:L848P;ENSP00000411221:L671P;ENSP00000422008:L681P;ENSP00000420905:L682P	ENSP00000274376:L848P	L	+	2	0	RASA1	86711363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.944000	0.87722	1.999000	0.58509	0.533000	0.62120	CTA	RASA1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000145715		0.313	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0	46	0	T	NM_002890		86675607	1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	C	C	86675607	T	C	86675607	3	2	87	1	0	0	0	0	1	0	0	0	13105	1522	53	4	2629	4	RASA1	5	86675607	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	36	86675607	94239653	582	23706											
CETN3	1070	genome.wustl.edu	37	chr5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-																															agaatcttcagtacatcagcTttttttacatcaaaccccaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:89701581delT	ENST00000283122.3	-	3	313	c.189delA	c.(187-189)aaafs	p.K63fs	CETN3_ENST00000522083.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522565.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522864.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522842.1_Frame_Shift_Del_p.K63fs	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	63	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GTACATCAGCTTTTTTTACAT	0.308																																																	0													96	95	96					5																	89701581		2202	4299	6501	SO:0001589	frameshift_variant	0			Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"EF-hand domain containing"	1868	protein-coding gene	gene with protein product	"CDC31 yeast homolog", "EF-hand superfamily member"	602907	"centrin, EF-hand protein, 3 (CDC31 yeast homolog)"			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.189delA	5.37:g.89701581delT	ENSP00000283122:p.Lys63fs		Q53YD2|Q9BS23	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A64fs	ENST00000283122.3	37	c.189	CCDS4066.1	5																																																																																			CETN3	-	pfscan_EF_hand_dom	ENSG00000153140		0.308	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN3	HGNC	protein_coding	OTTHUMT00000254097.1		0	107	0	T	NM_004365		89701581	-1	tier1		no_errors	ENST00000283122	ensembl	human	known	74_37	frame_shift_del	16.67	100	20	DEL	1.000	-	-	89701581	T	-	89701581	7	5	87	1	0	1	0	1	0	0	0	0	3283	1606	56	0	326	0	CETN3	5	89701581	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	3025974	89701581	91213679	583	23707											
GPR98	84059	genome.wustl.edu	37	chr5	89939702	89939702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccattgtcaatataaCgattctgaaaaatgatgatc	15	12	6	8	1	2	3	1	3	1	0	3	4	2	3	2	0	2	0	2	0	5	4	rs201007778		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:89939702C>T	ENST00000405460.2	+	14	2732	c.2636C>T	c.(2635-2637)aCg>aTg	p.T879M		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	879	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCAATATAACGATTCTGAAA	0.403																																																	0								C	MET/THR	0,3824		0,0,1912	102	99	100		2636	5.1	0.9	5		100	4,8250		0,4,4123	yes	missense	GPR98	NM_032119.3	81	0,4,6035	TT,TC,CC		0.0485,0.0,0.0331	probably-damaging	879/6307	89939702	4,12074	1912	4127	6039	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2636C>T	5.37:g.89939702C>T	ENSP00000384582:p.Thr879Met		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.T879M	ENST00000405460.2	37	c.2636	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765393	0.69878	0.0	4.85E-4	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.37058	1.22	5.05	5.05	0.67936	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73020	-0.4114	10	0.87932	D	0	.	18.3953	0.90496	0.0:1.0:0.0:0.0	.	879	Q8WXG9	GPR98_HUMAN	M	879	ENSP00000384582:T879M	ENSP00000296619:T879M	T	+	2	0	GPR98	89975458	1.000000	0.71417	0.917000	0.36280	0.210000	0.24377	7.021000	0.76425	2.344000	0.79699	0.655000	0.94253	ACG	GPR98	-	smart_Calx_beta	ENSG00000164199		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	63	0	C	NM_032119		89939702	1	tier1	rs201007778	no_errors	ENST00000405460	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	T	T	89939702	C	T	89939702	3	4	87	1	0	0	0	0	1	0	0	0	6748	536	19	1	2690	1	GPR98	5	89939702	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	238121	89939702	90975558	584	23708											
GPR98	84059	genome.wustl.edu	37	chr5	90119242	90119242	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggtttcttgctcacagGgcctttgaagatgtcaaggt	7	13	14	7	0	3	2	2	1	1	1	3	2	3	2	1	4	1	2	1	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:90119242G>A	ENST00000405460.2	+	76	16293	c.16197G>A	c.(16195-16197)agG>agA	p.R5399R	GPR98_ENST00000425867.2_Splice_Site_p.R1060R	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5399	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTCACAGGGCCTTTGAAG	0.448																																																	0													106	109	108					5																	90119242		1964	4133	6097	SO:0001630	splice_region_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16197-1G>A	5.37:g.90119242G>A			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R5399	ENST00000405460.2	37	c.16197	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	62	0	G	NM_032119	Silent	90119242	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	silent	25.00	42	14	SNP	1.000	A	A	90119242	G	A	90119242	5	1	87	1	0	0	0	0	0	0	1	0	6748	1246	43	3	16499	3	GPR98	5	90119242	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	179540	90119242	90796018	585	23709											
FAM172A	83989	genome.wustl.edu	37	chr5	93217282	93217282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactttatcttttctttccCgtttttctgctggttcatct	5	22	4	10	1	5	0	1	0	4	0	6	0	6	0	1	1	2	3	1	1	2	8	rs373351314		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:93217282C>T	ENST00000395965.3	-	7	822	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	FAM172A_ENST00000505869.1_Missense_Mutation_p.R117Q|FAM172A_ENST00000509739.1_Missense_Mutation_p.R80Q|FAM172A_ENST00000509163.1_Missense_Mutation_p.R181Q	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	227						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TTTTCTTTCCCGTTTTTCTGC	0.343																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4404		0,0,2202	203	194	197		542,350,680	4.6	1	5		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	FAM172A	NM_001163417.1,NM_001163418.1,NM_032042.5	43,43,43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	181/371,117/307,227/417	93217282	1,13003	2202	4300	6502	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.680G>A	5.37:g.93217282C>T	ENSP00000379294:p.Arg227Gln		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.R227Q	ENST00000395965.3	37	c.680	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.149004	0.94645	0.0	1.16E-4	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	4.63	4.63	0.57726	.	0.092518	0.64402	D	0.000001	T	0.29620	0.0739	N	0.19112	0.55	0.58432	D	0.999994	D;D;P;D	0.76494	0.998;0.998;0.908;0.999	P;D;B;D	0.77557	0.895;0.986;0.326;0.99	T	0.06162	-1.0842	10	0.12430	T	0.62	-11.7218	17.8276	0.88671	0.0:1.0:0.0:0.0	.	80;117;227;227	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	Q	227;117;80;181	ENSP00000379294:R227Q;ENSP00000426284:R117Q;ENSP00000421834:R80Q;ENSP00000423841:R181Q	ENSP00000379294:R227Q	R	-	2	0	FAM172A	93243038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.026000	0.64103	2.273000	0.75805	0.650000	0.86243	CGG	FAM172A	-	NULL	ENSG00000113391		0.343	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	-	0	63	0	C	NM_032042		93217282	-1	tier1	-	no_errors	ENST00000395965	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	T	T	93217282	C	T	93217282	3	4	87	1	0	0	0	0	1	0	0	0	5511	652	23	1	590	1	FAM172A	5	93217282	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3098040	93217282	87697978	586	23710											
MCTP1	79772	genome.wustl.edu	37	chr5	94050578	94050578	+	Frame_Shift_Del	DEL	T	T	-																															agattttatttataaatcccTttttttcactgtcctaaaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:94050578delT	ENST00000515393.1	-	20	2623	c.2624delA	c.(2623-2625)aagfs	p.K875fs	ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K568fs|MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K391fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K654fs|MCTP1_ENST00000514040.1_5'UTR	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	875					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TATAAATCCCTTTTTTTCACT	0.348																																																	0													125	128	127					5																	94050578		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2624delA	5.37:g.94050578delT	ENSP00000424126:p.Lys875fs		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.K875fs	ENST00000515393.1	37	c.2624	CCDS34203.1	5																																																																																			MCTP1	-	pfam_PRibTrfase_C	ENSG00000175471		0.348	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3		0	49	0	T	NM_024717		94050578	-1	tier1		no_errors	ENST00000515393	ensembl	human	known	74_37	frame_shift_del	20.00	36	9	DEL	1.000	-	-	94050578	T	-	94050578	7	5	87	1	0	1	0	1	0	0	0	0	9438	1609	56	0	391	0	MCTP1	5	94050578	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	833296	94050578	86864682	587	23711											
CHD1	1105	genome.wustl.edu	37	chr5	98194002	98194002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctgatgtcggtctttatGatgatcatggtactgagtta	8	16	10	7	1	2	4	1	4	1	0	4	4	3	4	1	2	1	2	1	2	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:98194002G>A	ENST00000284049.3	-	34	4818	c.4669C>T	c.(4669-4671)Cat>Tat	p.H1557Y		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1557					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CGGTCTTTATGATGATCATGG	0.373																																																	0													262	257	259					5																	98194002		2203	4300	6503	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4669C>T	5.37:g.98194002G>A	ENSP00000284049:p.His1557Tyr		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.H1557Y	ENST00000284049.3	37	c.4669	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	G	0.965	-0.702057	0.03255	.	.	ENSG00000153922	ENST00000422663;ENST00000284049	D	0.90069	-2.61	5.31	5.31	0.75309	.	0.000000	0.34386	U	0.004006	D	0.84051	0.5387	L	0.36672	1.1	0.39862	D	0.973393	P	0.39282	0.666	B	0.32022	0.139	D	0.86175	0.1602	10	0.56958	D	0.05	.	19.324	0.94254	0.0:0.0:1.0:0.0	.	1557	O14646	CHD1_HUMAN	Y	147;1557	ENSP00000284049:H1557Y	ENSP00000284049:H1557Y	H	-	1	0	CHD1	98221902	1.000000	0.71417	0.994000	0.49952	0.214000	0.24535	3.335000	0.52105	2.635000	0.89317	0.555000	0.69702	CAT	CHD1	-	NULL	ENSG00000153922		0.373	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	77	0	G	NM_001270		98194002	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	24.29	53	17	SNP	0.997	A	A	98194002	G	A	98194002	3	1	87	1	0	0	0	0	1	0	0	0	3330	1290	45	3	471	3	CHD1	5	98194002	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4143424	98194002	82721258	588	23712											
CHD1	1105	genome.wustl.edu	37	chr5	98210788	98210788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatttacctttccagaggaCcaccaaatttcttatagctc	11	14	5	11	0	1	1	0	0	1	1	3	2	2	2	4	1	2	2	4	1	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:98210788C>T	ENST00000284049.3	-	24	3577	c.3428G>A	c.(3427-3429)gGt>gAt	p.G1143D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1143					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTCCAGAGGACCACCAAATTT	0.289																																																	0													54	58	57					5																	98210788		2201	4271	6472	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3428G>A	5.37:g.98210788C>T	ENSP00000284049:p.Gly1143Asp		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.G1143D	ENST00000284049.3	37	c.3428	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	7.241	0.601324	0.13939	.	.	ENSG00000153922	ENST00000284049	D	0.88201	-2.35	4.84	4.84	0.62591	.	0.000000	0.34291	U	0.004089	T	0.76681	0.4021	N	0.11313	0.125	0.53688	D	0.999974	B	0.14438	0.01	B	0.10450	0.005	T	0.71159	-0.4674	10	0.09843	T	0.71	.	13.6798	0.62476	0.0:0.8449:0.1551:0.0	.	1143	O14646	CHD1_HUMAN	D	1143	ENSP00000284049:G1143D	ENSP00000284049:G1143D	G	-	2	0	CHD1	98238688	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	1.739000	0.38217	2.409000	0.81822	0.650000	0.86243	GGT	CHD1	-	NULL	ENSG00000153922		0.289	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	55	0	C	NM_001270		98210788	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	34.33	44	23	SNP	1.000	T	T	98210788	C	T	98210788	3	4	87	1	0	0	0	0	1	0	0	0	3330	507	18	3	1752	3	CHD1	5	98210788	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	16786	98210788	82704472	589	23713											
C5orf30	90355	genome.wustl.edu	37	chr5	102611913	102611913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctccaaacagctagatgCaggacttgcccgttcctctc	9	9	8	15	2	1	1	0	0	1	1	4	2	3	2	3	1	4	4	3	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:102611913C>T	ENST00000319933.2	+	3	601	c.293C>T	c.(292-294)gCa>gTa	p.A98V	C5orf30_ENST00000515669.1_Missense_Mutation_p.A98V|C5orf30_ENST00000510890.1_Missense_Mutation_p.A98V	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	98					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		CAGCTAGATGCAGGACTTGCC	0.522																																																	0													68	63	64					5																	102611913		2203	4300	6503	SO:0001583	missense	0				CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.293C>T	5.37:g.102611913C>T	ENSP00000326110:p.Ala98Val			Missense_Mutation	SNP	NULL	p.A98V	ENST00000319933.2	37	c.293	CCDS4095.1	5	.	.	.	.	.	.	.	.	.	.	C	8.664	0.901190	0.17760	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	4.25	0.50352	.	0.651566	0.15695	N	0.249211	T	0.27384	0.0672	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16453	-1.0402	9	0.21014	T	0.42	-1.9145	11.2895	0.49241	0.1276:0.8071:0.0:0.0653	.	98	Q96GV9	CE030_HUMAN	V	98	.	ENSP00000326110:A98V	A	+	2	0	C5orf30	102639812	0.977000	0.34250	0.447000	0.26932	0.972000	0.66771	3.503000	0.53340	0.853000	0.35312	0.655000	0.94253	GCA	C5orf30	-	NULL	ENSG00000181751		0.522	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf30	HGNC	protein_coding	OTTHUMT00000250649.1	-	0	21	0	C	NM_033211		102611913	1	tier1	-	no_errors	ENST00000319933	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.007	T	T	102611913	C	T	102611913	3	4	87	1	0	0	0	0	1	0	0	0	2297	710	25	3	295	3	C5orf30	5	102611913	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4401125	102611913	78303347	590	23714											
MCC	4163	genome.wustl.edu	37	chr5	112478960	112478960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcttcttgttgagctccGcaatgacgctgtggagctct	6	14	10	11	2	3	2	0	2	3	0	4	3	4	3	1	1	2	5	1	1	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:112478960G>A	ENST00000302475.4	-	3	832	c.269C>T	c.(268-270)gCg>gTg	p.A90V	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.A280V|MCC_ENST00000515367.2_Missense_Mutation_p.A27V	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	90					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTGAGCTCCGCAATGACGCT	0.552																																																	0													140	102	115					5																	112478960		2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.269C>T	5.37:g.112478960G>A	ENSP00000305617:p.Ala90Val		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.A90V	ENST00000302475.4	37	c.269	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254195	0.80135	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.78707	-1.2;1.37;-0.05	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86070	0.5845	L	0.49778	1.585	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.76071	0.959;0.939;0.987;0.939	D	0.85704	0.1315	10	0.59425	D	0.04	-14.1313	20.1253	0.97977	0.0:0.0:1.0:0.0	.	90;52;280;90	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	V	90;27;280	ENSP00000305617:A90V;ENSP00000421615:A27V;ENSP00000386227:A280V	ENSP00000305617:A90V	A	-	2	0	MCC	112506859	1.000000	0.71417	0.869000	0.34112	0.188000	0.23474	7.368000	0.79567	2.832000	0.97577	0.655000	0.94253	GCG	MCC	-	NULL	ENSG00000171444		0.552	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0	31	0	G	NM_001085377		112478960	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.997	A	A	112478960	G	A	112478960	3	1	87	1	0	0	0	0	1	0	0	0	9411	1087	38	1	2280	1	MCC	5	112478960	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	9867047	112478960	68436300	591	23715											
YTHDC2	64848	genome.wustl.edu	37	chr5	112889315	112889315	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttttctgcctggataTgacgaaattgttggactgag	10	15	10	6	1	1	2	0	2	1	0	1	5	1	4	1	2	1	1	1	2	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:112889315T>G	ENST00000161863.4	+	14	2109	c.1896T>G	c.(1894-1896)taT>taG	p.Y632*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Y632*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	632	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGCCTGGATATGACGAAATTG	0.368																																																	0													134	131	132					5																	112889315		2202	4300	6502	SO:0001587	stop_gained	0			AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1896T>G	5.37:g.112889315T>G	ENSP00000161863:p.Tyr632*		B2RP66	Nonsense_Mutation	SNP	pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y632*	ENST00000161863.4	37	c.1896	CCDS4113.1	5	.	.	.	.	.	.	.	.	.	.	T	38	7.166523	0.98107	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	.	.	.	5.56	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2528	0.49037	0.0:0.0721:0.0:0.9279	.	.	.	.	X	632;632;542	.	ENSP00000161863:Y632X	Y	+	3	2	YTHDC2	112917214	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.653000	0.54446	0.923000	0.37045	0.528000	0.53228	TAT	YTHDC2	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000047188		0.368	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDC2	HGNC	protein_coding	OTTHUMT00000250776.2	-	0	49	0	T	NM_022828		112889315	1	tier1	-	no_errors	ENST00000161863	ensembl	human	known	74_37	nonsense	8.62	53	5	SNP	1.000	G	G	112889315	T	G	112889315	4	3	87	1	0	0	0	0	0	1	0	0	17546	1471	51	4	1950	4	YTHDC2	5	112889315	Nonsense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	410355	112889315	68025945	592	23716											
CCDC112	153733	genome.wustl.edu	37	chr5	114607065	114607065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taattttaacttaaactggcGctggcgttctttctgatgtt	8	18	8	7	2	2	1	0	1	2	0	2	1	2	1	0	2	2	3	0	2	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:114607065G>A	ENST00000512261.1	-	8	1344	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	CCDC112_ENST00000506442.1_Missense_Mutation_p.R310C|CCDC112_ENST00000379611.5_Missense_Mutation_p.R393C|CCDC112_ENST00000395557.4_Missense_Mutation_p.R310C			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	310										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTAAACTGGCGCTGGCGTTCT	0.358																																																	0													136	144	142					5																	114607065		2202	4300	6502	SO:0001583	missense	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.928C>T	5.37:g.114607065G>A	ENSP00000423712:p.Arg310Cys		Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.R393C	ENST00000512261.1	37	c.1177	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255077	0.80135	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.25085	1.89;1.82;1.82;1.82	6.17	5.29	0.74685	.	0.211814	0.49305	D	0.000146	T	0.42921	0.1224	L	0.54323	1.7	0.47037	D	0.99929	D;D;D	0.76494	0.999;0.999;0.992	P;P;P	0.58130	0.833;0.833;0.752	T	0.39742	-0.9599	10	0.87932	D	0	-4.2486	16.4344	0.83871	0.0:0.0:0.8674:0.1326	.	310;393;310	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	C	393;310;310;310	ENSP00000368931:R393C;ENSP00000423712:R310C;ENSP00000424876:R310C;ENSP00000378925:R310C	ENSP00000368931:R393C	R	-	1	0	CCDC112	114634964	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	3.114000	0.50383	1.584000	0.49913	0.655000	0.94253	CGC	CCDC112	-	NULL	ENSG00000164221		0.358	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	-	0	41	0	G	NM_152549		114607065	-1	tier1	-	no_errors	ENST00000379611	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	A	A	114607065	G	A	114607065	3	1	87	1	0	0	0	0	1	0	0	0	2756	1087	38	1	428	1	CCDC112	5	114607065	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1717750	114607065	66308195	593	23717											
CDO1	1036	genome.wustl.edu	37	chr5	115152083	115152083	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtggcttcagcacttcGgtctgttccatctcgtgggg	3	13	13	12	3	3	0	1	0	2	0	7	0	5	0	2	4	1	3	2	4	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:115152083G>A	ENST00000250535.4	-	1	568	c.12C>T	c.(10-12)acC>acT	p.T4T	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	4					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	TCAGCACTTCGGTCTGTTCCA	0.642																																																	0													124	124	124					5																	115152083		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"cysteine dioxygenase, type I"			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.12C>T	5.37:g.115152083G>A			B2RAK4|P78513|Q6FHZ8|Q8TB64	Silent	SNP	pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin	p.T4	ENST00000250535.4	37	c.12	CCDS4121.1	5																																																																																			CDO1	-	pfam_Cys_dOase_I	ENSG00000129596		0.642	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDO1	HGNC	protein_coding	OTTHUMT00000250853.2	-	0	19	0	G	NM_001801		115152083	-1	tier1	-	no_errors	ENST00000250535	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.980	A	A	115152083	G	A	115152083	2	1	87	1	0	0	0	0	0	0	0	1	3176	1103	39	1		1	CDO1	5	115152083	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	545018	115152083	65763177	594	23718											
SEMA6A	57556	genome.wustl.edu	37	chr5	115831945	115831945	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagaaatgaaaattgcctAccttatgttttcccttcatt	12	15	6	8	0	1	2	1	1	0	1	2	3	2	2	3	1	2	1	3	1	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:115831945A>G	ENST00000343348.6	-	5	1130		c.e5+1		SEMA6A_ENST00000510263.1_Splice_Site|SEMA6A_ENST00000503962.1_Splice_Site|SEMA6A_ENST00000257414.8_Splice_Site|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AAAATTGCCTACCTTATGTTT	0.423																																																	0													165	167	166					5																	115831945		1895	4127	6022	SO:0001630	splice_region_variant	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.342+1T>C	5.37:g.115831945A>G			Q9P2H9	Splice_Site	SNP	-	e4+2	ENST00000343348.6	37	c.342+2	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	A	22.6	4.315183	0.81358	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000510263;ENST00000515009	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4675	0.84087	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA6A	115859844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	.	SEMA6A	-	-	ENSG00000092421		0.423	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	-	0	78	0	A	NM_020796	Intron	115831945	-1	tier1	-	no_errors	ENST00000257414	ensembl	human	known	74_37	splice_site	13.04	59	9	SNP	1.000	G	G	115831945	A	G	115831945	5	3	87	1	0	0	0	0	0	0	1	0	14084	405	14	4	2808	4	SEMA6A	5	115831945	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	679862	115831945	65083315	595	23719											
FTMT	94033	genome.wustl.edu	37	chr5	121187725	121187725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtctctgcgcccggtgCgctgctgcttcgcgctcccg	0	10	14	17	7	1	0	0	0	1	0	4	0	2	0	2	2	4	4	2	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:121187725C>T	ENST00000321339.1	+	1	76	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	23					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.R23C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCGCCCGGTGCGCTGCTGCTT	0.731																																																	1	Substitution - Missense(1)	lung(1)											16	18	17					5																	121187725		2198	4292	6490	SO:0001583	missense	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.67C>T	5.37:g.121187725C>T	ENSP00000313691:p.Arg23Cys			Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.R23C	ENST00000321339.1	37	c.67	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	C	8.592	0.884920	0.17540	.	.	ENSG00000181867	ENST00000321339	T	0.63580	-0.05	2.95	0.0714	0.14382	.	.	.	.	.	T	0.41994	0.1183	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.27606	-1.0069	9	0.46703	T	0.11	.	2.3777	0.04346	0.2393:0.4726:0.0:0.288	.	23	Q8N4E7	FTMT_HUMAN	C	23	ENSP00000313691:R23C	ENSP00000313691:R23C	R	+	1	0	FTMT	121215624	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.252000	0.08806	-0.015000	0.14150	-0.760000	0.03462	CGC	FTMT	-	NULL	ENSG00000181867		0.731	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1		0	44	0	C	NM_177478		121187725	1			no_errors	ENST00000321339	ensembl	human	known	74_37	missense	13.89	30	5	SNP	0.000	T	T	121187725	C	T	121187725	3	4	87	1	0	0	0	0	1	0	0	0	6109	768	27	1	69	1	FTMT	5	121187725	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5355780	121187725	59727535	596	23720											
C5orf48	389320	genome.wustl.edu	37	chr5	125971900	125971900	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagataccaaagcactgtGatttcccatggcttcaggag	11	10	9	11	0	1	2	1	1	0	1	3	3	3	3	3	2	2	2	3	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:125971900G>T	ENST00000357147.3	+	3	385	c.372G>T	c.(370-372)gtG>gtT	p.V124V		NM_207408.1	NP_997291.1	Q6ZNM6	TEX43_HUMAN		124										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						AAAGCACTGTGATTTCCCATG	0.388																																																	0													87	89	88					5																	125971900		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000357147.3:c.372G>T	5.37:g.125971900G>T				Silent	SNP	NULL	p.V124	ENST00000357147.3	37	c.372	CCDS4139.1	5																																																																																			C5orf48	-	NULL	ENSG00000196900		0.388	C5orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf48	HGNC	protein_coding	OTTHUMT00000250923.1		0	28	0	G			125971900	1			no_errors	ENST00000357147	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.996	T	T	125971900	G	T	125971900	2	4	87	1	0	0	0	0	0	0	0	1	2313	1277	45	3		3	C5orf48	5	125971900	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4784175	125971900	54943360	597	23721											
FBN2	2201	genome.wustl.edu	37	chr5	127873181	127873181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcggcggcggctggggcCggggcggcttgggcggagga	2	5	25	9	6	0	0	0	0	0	0	0	2	0	2	1	11	1	3	1	11	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:127873181C>T	ENST00000508053.1	-	7	1090	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	FBN2_ENST00000508989.1_Missense_Mutation_p.R39Q|FBN2_ENST00000262464.4_Missense_Mutation_p.R39Q			P35556	FBN2_HUMAN	fibrillin 2	39					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGGCTGGGGCCGGGGCGGCTT	0.706																																																	0													8	11	10					5																	127873181		2147	4203	6350	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.116G>A	5.37:g.127873181C>T	ENSP00000424571:p.Arg39Gln		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R39Q	ENST00000508053.1	37	c.116	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	16.49	3.139034	0.56936	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.91843	-2.59;-2.59;-2.92;-1.42	4.77	0.552	0.17230	.	0.414976	0.17897	N	0.158325	T	0.79446	0.4447	N	0.08118	0	0.19300	N	0.999975	B;B;B;B	0.14438	0.009;0.0;0.01;0.003	B;B;B;B	0.06405	0.002;0.0;0.001;0.001	T	0.69045	-0.5249	10	0.46703	T	0.11	.	5.5835	0.17262	0.0:0.5846:0.1438:0.2716	.	39;39;39;39	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	Q	39	ENSP00000262464:R39Q;ENSP00000424571:R39Q;ENSP00000425596:R39Q;ENSP00000424753:R39Q	ENSP00000262464:R39Q	R	-	2	0	FBN2	127901080	0.000000	0.05858	0.966000	0.40874	0.905000	0.53344	0.465000	0.22004	0.486000	0.27676	0.591000	0.81541	CGG	FBN2	-	pirsf_FBN	ENSG00000138829		0.706	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	39	0	C	NM_001999		127873181	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.436	T	T	127873181	C	T	127873181	3	4	87	1	0	0	0	0	1	0	0	0	5725	652	23	1	8882	1	FBN2	5	127873181	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1901281	127873181	53042079	598	23722											
ACSL6	23305	genome.wustl.edu	37	chr5	131321105	131321105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcctctgcttacctgtcGtgccgcttgtgaaacacaca	7	11	9	14	3	1	1	0	1	1	0	2	1	1	1	3	0	5	2	3	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:131321105G>A	ENST00000379240.1	-	9	989	c.836C>T	c.(835-837)aCg>aTg	p.T279M	ACSL6_ENST00000379264.2_Missense_Mutation_p.T304M|ACSL6_ENST00000379255.1_Missense_Mutation_p.T244M|ACSL6_ENST00000379249.3_Missense_Mutation_p.T279M|ACSL6_ENST00000431707.1_Missense_Mutation_p.T259M|ACSL6_ENST00000379244.1_Missense_Mutation_p.T279M|ACSL6_ENST00000379246.1_Missense_Mutation_p.T290M|ACSL6_ENST00000296869.4_Missense_Mutation_p.T304M|ACSL6_ENST00000543479.1_Missense_Mutation_p.T279M|ACSL6_ENST00000544770.1_Missense_Mutation_p.T188M|ACSL6_ENST00000357096.1_Missense_Mutation_p.T244M|ACSL6_ENST00000379272.2_Missense_Mutation_p.T294M			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	279					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.T304M(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTACCTGTCGTGCCGCTTGT	0.597																																																	2	Substitution - Missense(2)	endometrium(2)											137	105	115					5																	131321105		2203	4300	6503	SO:0001583	missense	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"Acyl-CoA synthetase family"	16496	protein-coding gene	gene with protein product		604443	"fatty-acid-Coenzyme A ligase, long-chain 6"	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.836C>T	5.37:g.131321105G>A	ENSP00000368542:p.Thr279Met		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T304M	ENST00000379240.1	37	c.911		5	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850367	0.91277	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.29	5.29	0.74685	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.090765	0.85682	D	0.000000	T	0.73001	0.3531	H	0.99726	4.73	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.998;0.998;0.998;0.994;0.994;0.998	D	0.86577	0.1851	10	0.87932	D	0	.	18.9516	0.92643	0.0:0.0:1.0:0.0	.	279;294;269;279;244;304;304	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	M	279;304;294;244;244;304;290;279;188;279;259;279;244	ENSP00000368551:T279M;ENSP00000368566:T304M;ENSP00000368574:T294M;ENSP00000349608:T244M;ENSP00000368557:T244M;ENSP00000296869:T304M;ENSP00000368548:T290M;ENSP00000368546:T279M;ENSP00000445154:T188M;ENSP00000368542:T279M;ENSP00000413329:T259M;ENSP00000442124:T279M;ENSP00000397507:T244M	ENSP00000296869:T304M	T	-	2	0	ACSL6	131349004	1.000000	0.71417	0.905000	0.35620	0.859000	0.49053	9.805000	0.99149	2.486000	0.83907	0.563000	0.77884	ACG	ACSL6	-	pfam_AMP-dep_Synth/Lig	ENSG00000164398		0.597	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	-	0	33	0	G	NM_015256		131321105	-1	tier1	-	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	A	A	131321105	G	A	131321105	3	1	87	1	0	0	0	0	1	0	0	0	181	1145	40	1	1391	1	ACSL6	5	131321105	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3447924	131321105	49594155	599	23723											
SEC24A	10802	genome.wustl.edu	37	chr5	134050782	134050782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctatgtgtcaagtgaaaaaCcagcccttggtttaccttat	11	13	8	9	0	1	1	1	1	0	0	1	1	1	1	3	1	3	2	3	1	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134050782C>T	ENST00000398844.2	+	19	3084	c.2796C>T	c.(2794-2796)aaC>aaT	p.N932N	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	932					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGTGAAAAACCAGCCCTTGG	0.408																																																	0													155	143	147					5																	134050782		1874	4105	5979	SO:0001819	synonymous_variant	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"SEC24 (S. cerevisiae) related gene family, member A", "SEC24 family, member A (S. cerevisiae)"			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2796C>T	5.37:g.134050782C>T			A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.N932	ENST00000398844.2	37	c.2796	CCDS43363.1	5																																																																																			SEC24A	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom	ENSG00000113615		0.408	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	-	0	46	0	C			134050782	1	tier1	-	no_errors	ENST00000398844	ensembl	human	known	74_37	silent	12.12	58	8	SNP	0.994	T	T	134050782	C	T	134050782	2	4	87	1	0	0	0	0	0	0	0	1	14039	506	18	3		3	SEC24A	5	134050782	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2729677	134050782	46864478	600	23724											
CATSPER3	347732	genome.wustl.edu	37	chr5	134347238	134347238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgtactatgagatcgtGcatgtgctgagcctaatgct	9	12	12	8	1	0	2	0	2	0	1	1	4	0	2	1	0	6	5	1	0	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134347238G>A	ENST00000282611.6	+	8	1208	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	374					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGATCGTGCATGTGCTGA	0.567																																																	0													85	74	78					5																	134347238		2203	4300	6503	SO:0001819	synonymous_variant	0			AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"Voltage-gated ion channels / Cation channels, sperm associated"	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.1122G>A	5.37:g.134347238G>A			Q86XS6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.V374	ENST00000282611.6	37	c.1122	CCDS4181.1	5																																																																																			CATSPER3	-	NULL	ENSG00000152705		0.567	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER3	HGNC	protein_coding	OTTHUMT00000251191.2	-	0	61	0	G	NM_178019		134347238	1	tier1	-	no_errors	ENST00000282611	ensembl	human	known	74_37	silent	14.29	36	6	SNP	0.000	A	A	134347238	G	A	134347238	2	1	87	1	0	0	0	0	0	0	0	1	2696	1306	46	3		3	CATSPER3	5	134347238	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	296456	134347238	46568022	601	23725											
C5orf20	140947	genome.wustl.edu	37	chr5	134782253	134782253	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaggtgggtgccatggAtctgatgatttcagtgattt	9	14	14	4	0	2	4	1	4	1	0	2	5	2	5	1	3	1	0	1	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134782253A>T	ENST00000503143.2	-	1	785	c.546T>A	c.(544-546)gaT>gaA	p.D182E	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN		182	Ser-rich.					nucleus (GO:0005634)				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTGCCATGGATCTGATGATT	0.483																																																	0													99	100	100					5																	134782253		2203	4300	6503	SO:0001583	missense	0																														ENST00000503143.2:c.546T>A	5.37:g.134782253A>T	ENSP00000421871:p.Asp182Glu			Missense_Mutation	SNP	NULL	p.D182E	ENST00000503143.2	37	c.546	CCDS4186.1	5	.	.	.	.	.	.	.	.	.	.	A	9.981	1.228254	0.22542	.	.	ENSG00000251380	ENST00000503143	T	0.38887	1.11	3.86	-3.5	0.04710	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.31614	0.133	T	0.13335	-1.0513	9	0.87932	D	0	.	0.9188	0.01310	0.3707:0.1666:0.301:0.1618	.	182	Q8TF63	DCNP1_HUMAN	E	182	ENSP00000421871:D182E	ENSP00000421871:D182E	D	-	3	2	C5orf20	134810152	0.001000	0.12720	0.000000	0.03702	0.087000	0.18053	0.040000	0.13905	-0.631000	0.05560	0.402000	0.26972	GAT	C5orf20	-	NULL	ENSG00000251380		0.483	C5orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf20	HGNC	protein_coding	OTTHUMT00000372531.1	-	0	48	0	A			134782253	-1	tier1	-	no_errors	ENST00000503143	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.000	T	T	134782253	A	T	134782253	3	4	87	1	0	0	0	0	1	0	0	0	2291	330	12	5	192	5	C5orf20	5	134782253	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	435015	134782253	46133007	602	23726											
NEUROG1	4762	genome.wustl.edu	37	chr5	134870770	134870770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtaggtgaagtcttcggagGcggctgggctactggggtca	6	9	19	7	2	2	1	1	1	1	0	3	2	2	2	0	8	1	3	0	8	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134870770G>A	ENST00000314744.4	-	1	869	c.611C>T	c.(610-612)gCc>gTc	p.A204V		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	204					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTCGGAGGCGGCTGGGCT	0.677																																																	0													38	41	40					5																	134870770		2203	4300	6503	SO:0001583	missense	0			U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"Basic helix-loop-helix proteins"	7764	protein-coding gene	gene with protein product	"neurogenic differentiation 3"	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.611C>T	5.37:g.134870770G>A	ENSP00000317580:p.Ala204Val		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A204V	ENST00000314744.4	37	c.611	CCDS4187.1	5	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481628	0.12581	.	.	ENSG00000181965	ENST00000314744	D	0.95377	-3.69	5.05	4.17	0.49024	.	0.454958	0.23060	U	0.052383	D	0.89368	0.6695	N	0.19112	0.55	0.09310	N	1	B	0.20052	0.041	B	0.19391	0.025	T	0.79591	-0.1740	10	0.33940	T	0.23	-14.1385	8.133	0.31037	0.0803:0.0:0.7609:0.1588	.	204	Q92886	NGN1_HUMAN	V	204	ENSP00000317580:A204V	ENSP00000317580:A204V	A	-	2	0	NEUROG1	134898669	0.999000	0.42202	0.196000	0.23383	0.248000	0.25809	4.622000	0.61240	1.082000	0.41137	-0.182000	0.12963	GCC	NEUROG1	-	NULL	ENSG00000181965		0.677	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG1	HGNC	protein_coding	OTTHUMT00000251192.1	-	0	141	0	G	NM_006161		134870770	-1	tier1	-	no_errors	ENST00000314744	ensembl	human	known	74_37	missense	11.00	89	11	SNP	0.164	A	A	134870770	G	A	134870770	3	1	87	1	0	0	0	0	1	0	0	0	10391	1203	42	3	106	3	NEUROG1	5	134870770	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	88517	134870770	46044490	603	23727											
NEUROG1	4762	genome.wustl.edu	37	chr5	134871227	134871227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgggagatattgggcgCgcccctgcgggccggcgcgg	3	4	19	15	8	0	1	0	0	0	1	0	2	0	1	4	5	1	0	4	5	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:134871227C>T	ENST00000314744.4	-	1	412	c.154G>A	c.(154-156)Gcg>Acg	p.A52T		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	52					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATATTgggcgcgcccctgcgg	0.736																																																	0													4	5	5					5																	134871227		2015	3967	5982	SO:0001583	missense	0			U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"Basic helix-loop-helix proteins"	7764	protein-coding gene	gene with protein product	"neurogenic differentiation 3"	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.154G>A	5.37:g.134871227C>T	ENSP00000317580:p.Ala52Thr		Q5U0Q9|Q96HE1	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A52T	ENST00000314744.4	37	c.154	CCDS4187.1	5	.	.	.	.	.	.	.	.	.	.	C	1.861	-0.462734	0.04508	.	.	ENSG00000181965	ENST00000314744	D	0.95205	-3.64	4.7	2.88	0.33553	.	1.067500	0.07369	N	0.885469	D	0.88198	0.6372	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.73817	-0.3863	10	0.14656	T	0.56	-12.198	8.3702	0.32410	0.0:0.7607:0.1551:0.0841	.	52	Q92886	NGN1_HUMAN	T	52	ENSP00000317580:A52T	ENSP00000317580:A52T	A	-	1	0	NEUROG1	134899126	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.309000	0.08145	0.401000	0.25424	-0.258000	0.10820	GCG	NEUROG1	-	NULL	ENSG00000181965		0.736	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG1	HGNC	protein_coding	OTTHUMT00000251192.1		0	18	0	C	NM_006161		134871227	-1			no_errors	ENST00000314744	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.000	T	T	134871227	C	T	134871227	3	4	87	1	0	0	0	0	1	0	0	0	10391	768	27	1	563	1	NEUROG1	5	134871227	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	457	134871227	46044033	604	23728											
MYOT	9499	genome.wustl.edu	37	chr5	137216556	137216557	+	Splice_Site	INS	-	-	A																															tcctacatcacaagtaaggtINSaaaaaattttaattttaaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137216556_137216557insA	ENST00000239926.4	+	5	1057		c.e5+2		RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000421631.2_Splice_Site|MYOT_ENST00000509812.1_Splice_Site|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Splice_Site	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin						muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACAAGTAAGGTAAAAAATTTTA	0.297																																																	0																																										SO:0001630	splice_region_variant	0			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.683+2->A	5.37:g.137216562_137216562dupA			A0A4R6|B4DT79	Splice_Site	INS	-	e4+2	ENST00000239926.4	37	c.683+2_683+1	CCDS4194.1	5																																																																																			MYOT	-	-	ENSG00000120729		0.297	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2		0	33	0	-	NM_006790	Intron	137216557	1	tier1		no_errors	ENST00000239926	ensembl	human	known	74_37	splice_site_ins	12.12	29	4	INS	1.000:1.000	A	A	137216557	-	A	137216556	8	5	87	1	0	1	1	0	0	0	1	0	10132	1652	57	0	699	0	MYOT	5	137216556	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2345329	137216556	43698704	605	23729											
BRD8	10902	genome.wustl.edu	37	chr5	137495862	137495862	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactgcgtggccaagaattGctgtagggagaagaaacagg	14	6	14	7	1	0	3	0	0	0	3	0	4	0	3	1	3	4	2	1	3	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137495862G>A	ENST00000254900.5	-	19	2799	c.2428C>T	c.(2428-2430)Caa>Taa	p.Q810*	BRD8_ENST00000402931.1_Splice_Site_p.Q810*|BRD8_ENST00000230901.5_Splice_Site_p.Q883*|BRD8_ENST00000455658.2_Splice_Site_p.Q769*|BRD8_ENST00000411594.2_Splice_Site_p.Q813*|BRD8_ENST00000515014.1_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	810					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCAAGAATTGCTGTAGGGAG	0.433																																																	0													110	105	107					5																	137495862		2203	4300	6503	SO:0001630	splice_region_variant	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2428-1C>T	5.37:g.137495862G>A			O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Nonsense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q810*	ENST00000254900.5	37	c.2428	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	43	9.837326	0.99276	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-18.7527	17.4533	0.87599	0.0:0.0:1.0:0.0	.	.	.	.	X	810;839;808;883;810;813;704;769	.	ENSP00000230901:Q883X	Q	-	1	0	BRD8	137523761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.427000	0.97472	2.704000	0.92352	0.561000	0.74099	CAA	BRD8	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000112983		0.433	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	-	0	46	0	G	NM_006696	Nonsense_Mutation	137495862	-1	tier1	-	no_errors	ENST00000254900	ensembl	human	known	74_37	nonsense	10.87	41	5	SNP	1.000	A	A	137495862	G	A	137495862	5	1	87	1	0	0	0	0	0	0	1	0	1510	1333	46	3	1379	3	BRD8	5	137495862	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	279306	137495862	43419398	606	23730											
EGR1	1958	genome.wustl.edu	37	chr5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccagcggcctcctccGcctccgcctcccagagccca	5	6	7	23	3	1	1	0	0	1	1	6	1	5	1	9	1	2	0	9	1	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137802682G>A	ENST00000239938.4	+	2	816	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	182					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											111	114	113					5																	137802682		2203	4300	6503	SO:0001583	missense	0			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"Zinc fingers, C2H2-type"	3238	protein-coding gene	gene with protein product	"nerve growth factor-induced protein A", "transcription factor ETR103", "zinc finger protein 225", "early growth response protein 1"	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.544G>A	5.37:g.137802682G>A	ENSP00000239938:p.Ala182Thr			Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A182T	ENST00000239938.4	37	c.544	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	T	28.6	4.932384	0.92389	.	.	ENSG00000120738	ENST00000535792;ENST00000239938	T	0.20598	2.06	4.23	4.23	0.50019	.	0.072868	0.56097	D	0.000024	T	0.13114	0.0318	N	0.14661	0.345	0.25062	N	0.991055	B	0.06786	0.001	B	0.09377	0.004	T	0.18116	-1.0347	10	0.59425	D	0.04	-23.8891	10.8733	0.46896	0.0:0.0:0.1586:0.8413	.	182	P18146	EGR1_HUMAN	T	182	ENSP00000239938:A182T	ENSP00000239938:A182T	A	+	1	0	EGR1	137830581	0.797000	0.28877	0.132000	0.22025	0.700000	0.40528	1.159000	0.31749	0.507000	0.28148	-0.824000	0.03097	GCC	EGR1	-	pfam_DUF3446	ENSG00000120738		0.652	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1		0	77	0	G	NM_001964		137802682	1			no_errors	ENST00000239938	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.993	A	A	137802682	G	A	137802682	3	1	87	1	0	0	0	0	1	0	0	0	4985	1087	38	1	550	1	EGR1	5	137802682	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	306820	137802682	43112578	607	23731											
HSPA9	3313	genome.wustl.edu	37	chr5	137909470	137909471	+	In_Frame_Ins	INS	-	-	GTT																															cctttgcttgtttaccttccINSataactgccacgcaggagtt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:137909470_137909471insGTT	ENST00000297185.3	-	3	334_335	c.209_210insAAC	c.(208-210)atg>atAACg	p.70_70M>IT		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	70					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTTACCTTCCATAACTGCCAC	0.401																																																	0																																										SO:0001652	inframe_insertion	0			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"Heat shock proteins / HSP70"	5244	protein-coding gene	gene with protein product		600548	"heat shock 70kDa protein 9B (mortalin-2)"	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.209_210insAAC	5.37:g.137909470_137909471insGTT	ENSP00000297185:p.Met70delinsIleThr		B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	In_Frame_Ins	INS	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.M70in_frame_insIT	ENST00000297185.3	37	c.210_209	CCDS4208.1	5																																																																																			HSPA9	-	pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK	ENSG00000113013		0.401	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1		0	33	0	-	NM_004134		137909471	-1	tier1		no_errors	ENST00000297185	ensembl	human	known	74_37	in_frame_ins	13.64	38	6	INS	1.000:1.000	GTT	GTT	137909471	-	GTT	137909470	7	5	87	1	0	1	1	0	0	0	0	0	7444	594	21	0	1889	0	HSPA9	5	137909470	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	106788	137909470	43005790	608	23732											
CTNNA1	1495	genome.wustl.edu	37	chr5	138266343	138266343	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgacagactttacccGgtgagcagcaccccggcccc	9	5	12	15	2	0	4	0	2	0	2	0	5	0	4	5	3	3	2	5	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:138266343G>A	ENST00000302763.7	+	15	2282	c.2192G>A	c.(2191-2193)cGa>cAa	p.R731Q	CTNNA1_ENST00000518825.1_Splice_Site_p.R731Q|CTNNA1_ENST00000355078.5_Splice_Site_p.R628Q|CTNNA1_ENST00000540387.1_Splice_Site_p.R361Q	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	731					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACTTTACCCGGTGAGCAGCA	0.577																																																	0													128	124	125					5																	138266343		2203	4300	6503	SO:0001630	splice_region_variant	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2192+1G>A	5.37:g.138266343G>A			Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R731Q	ENST00000302763.7	37	c.2192	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012781	0.93346	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;P;D	0.70716	0.97;0.903;0.929	T	0.77368	-0.2614	10	0.62326	D	0.03	-5.7916	19.9422	0.97170	0.0:0.0:1.0:0.0	.	731;608;731	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	Q	628;731;731;716;731;361;6	ENSP00000347190:R628Q;ENSP00000304669:R731Q;ENSP00000427821:R731Q;ENSP00000438476:R361Q;ENSP00000430076:R6Q	ENSP00000304669:R731Q	R	+	2	0	CTNNA1	138294242	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	9.337000	0.96545	2.884000	0.98904	0.655000	0.94253	CGA	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000044115		0.577	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0	24	0	G	NM_001903	Missense_Mutation	138266343	1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	41.67	7	5	SNP	1.000	A	A	138266343	G	A	138266343	5	1	87	1	0	0	0	0	0	0	1	0	4021	1130	39	1	2246	1	CTNNA1	5	138266343	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	356873	138266343	42648917	609	23733											
CXXC5	51523	genome.wustl.edu	37	chr5	139060907	139060907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacgctgcggcatgtgcGcgccctgccggcggcgcatc	5	5	16	15	7	0	0	0	0	0	0	1	1	0	1	2	4	4	3	2	4	1	0	rs372142920		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:139060907G>A	ENST00000302517.3	+	2	1513	c.799G>A	c.(799-801)Gcg>Acg	p.A267T	CXXC5_ENST00000511048.1_Missense_Mutation_p.A267T|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	267					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCATGTGCGCGCCCTGCCG	0.592																																																	0								G	THR/ALA	0,4062		0,0,2031	53	63	60		799	3.2	1	5		60	1,8371		0,1,4185	no	missense	CXXC5	NM_016463.7	58	0,1,6216	AA,AG,GG		0.0119,0.0,0.0080	benign	267/323	139060907	1,12433	2031	4186	6217	SO:0001583	missense	0			AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"retinoid-inducible nuclear factor", "WT1-induced Inhibitor of Dishevelled"	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.799G>A	5.37:g.139060907G>A	ENSP00000302543:p.Ala267Thr		B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.A267T	ENST00000302517.3	37	c.799	CCDS43370.1	5	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018079	0.54576	0.0	1.19E-4	ENSG00000171604	ENST00000302517;ENST00000511048	.	.	.	5.04	3.16	0.36331	Zinc finger, CXXC-type (2);	0.114726	0.64402	D	0.000013	T	0.39989	0.1099	L	0.29908	0.895	0.33460	D	0.584869	B	0.28820	0.224	B	0.24848	0.056	T	0.52283	-0.8596	9	0.38643	T	0.18	-7.4811	14.4092	0.67103	0.0:0.431:0.5689:0.0	.	267	Q7LFL8	CXXC5_HUMAN	T	267	.	ENSP00000302543:A267T	A	+	1	0	CXXC5	139041091	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	3.482000	0.53186	1.083000	0.41159	0.505000	0.49811	GCG	CXXC5	-	pfam_Znf_CXXC,pfscan_Znf_CXXC	ENSG00000171604		0.592	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC5	HGNC	protein_coding	OTTHUMT00000372744.1	-	0	52	0	G	NM_016463		139060907	1	tier1	-	no_errors	ENST00000302517	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	A	A	139060907	G	A	139060907	3	1	87	1	0	0	0	0	1	0	0	0	4108	1087	38	1	801	1	CXXC5	5	139060907	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	794564	139060907	41854353	610	23734											
PCDHA2	56146	genome.wustl.edu	37	chr5	140175608	140175608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccagaagtctcaataacGtctctctcacttcccatctc	11	11	3	16	1	4	1	2	0	4	1	9	1	5	1	2	0	1	0	2	0	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140175608G>A	ENST00000526136.1	+	1	1059	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.T353T|PCDHA2_ENST00000378132.1_Silent_p.T353T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	353	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAATAACGTCTCTCTCAC	0.458																																																	0													89	76	81					5																	140175608		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1059G>A	5.37:g.140175608G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T353	ENST00000526136.1	37	c.1059	CCDS54914.1	5																																																																																			PCDHA2	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000204969		0.458	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0	36	0	G	NM_018905		140175608	1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	34.85	43	23	SNP	0.229	A	A	140175608	G	A	140175608	2	1	87	1	0	0	0	0	0	0	0	1	11563	1132	40	1		1	PCDHA2	5	140175608	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1114701	140175608	40739652	611	23735											
PCDHA7	56141	genome.wustl.edu	37	chr5	140215581	140215581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccaggtgagcgcgcGcgatgcgggcgtgccgcctc	4	6	17	14	7	0	1	0	1	0	0	2	2	1	1	3	2	3	2	3	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140215581G>A	ENST00000525929.1	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R538H|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R538H(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGATGCGGGC	0.677																																					NSCLC(160;258 2013 5070 22440 28951)												2	Substitution - Missense(2)	endometrium(2)											76	84	81					5																	140215581		2202	4297	6499	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"Cadherins / Protocadherins : Clustered"	8673	other	complex locus constituent	"KIAA0345-like 7", "ortholog to mouse CNR4"	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1613G>A	5.37:g.140215581G>A	ENSP00000436426:p.Arg538His		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R538H	ENST00000525929.1	37	c.1613	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240804	0.22711	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.54479	0.57;0.57	3.91	3.01	0.34805	Cadherin (5);Cadherin-like (1);	0.000000	0.31660	U	0.007279	T	0.38401	0.1039	L	0.50847	1.595	0.21719	N	0.999578	B;P	0.34800	0.299;0.469	B;B	0.32342	0.144;0.082	T	0.41627	-0.9498	10	0.59425	D	0.04	.	1.772	0.03013	0.1901:0.1468:0.4907:0.1724	.	538;538	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	H	538	ENSP00000436426:R538H;ENSP00000367365:R538H	ENSP00000367365:R538H	R	+	2	0	PCDHA7	140195765	0.000000	0.05858	1.000000	0.80357	0.380000	0.30137	-0.383000	0.07398	0.715000	0.32103	0.313000	0.20887	CGC	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204963		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0	167	0	G	NM_018910		140215581	1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	30.13	109	47	SNP	0.988	A	A	140215581	G	A	140215581	3	1	87	1	0	0	0	0	1	0	0	0	11568	1087	38	1	1615	1	PCDHA7	5	140215581	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	39973	140215581	40699679	612	23736											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229589	140229589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcggttgggcgagcgctcGctgtcgagctacgtgtcagt	4	9	17	11	7	1	0	1	0	0	0	3	2	1	0	0	3	3	4	0	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140229589G>A	ENST00000532602.1	+	1	2542	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S503S|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S503S(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCTCGCTGTCGAGCT	0.672																																					Melanoma(55;1800 1972 14909)												2	Substitution - coding silent(2)	breast(2)											61	67	65					5																	140229589		2196	4271	6467	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1509G>A	5.37:g.140229589G>A			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S503	ENST00000532602.1	37	c.1509	CCDS54920.1	5																																																																																			PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.672	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	152	0	G	NM_031857		140229589	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	13.81	155	25	SNP	0.770	A	A	140229589	G	A	140229589	2	1	87	1	0	0	0	0	0	0	0	1	11570	1074	38	1		1	PCDHA9	5	140229589	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	14008	140229589	40685671	613	23737											
PCDHA11	56138	genome.wustl.edu	37	chr5	140249224	140249224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaaaatgagtatttttCtttagattcaccaacaaatg	17	14	5	5	0	2	2	1	1	1	1	2	2	2	2	1	0	1	2	1	0	8	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140249224C>A	ENST00000398640.2	+	1	536	c.536C>A	c.(535-537)tCt>tAt	p.S179Y	PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	179	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTATTTTTCTTTAGATTCA	0.378																																																	0													79	87	85					5																	140249224		2060	4221	6281	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"Cadherins / Protocadherins : Clustered"	8665	other	complex locus constituent	"KIAA0345-like 3", "ortholog of mouse CNR7"	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.536C>A	5.37:g.140249224C>A	ENSP00000381636:p.Ser179Tyr		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S179Y	ENST00000398640.2	37	c.536	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678518	0.29783	.	.	ENSG00000249158	ENST00000398640	T	0.54071	0.59	5.71	4.66	0.58398	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.46054	0.1373	L	0.59912	1.85	0.09310	N	1	P;B	0.35745	0.518;0.149	B;B	0.29267	0.049;0.1	T	0.47381	-0.9122	9	0.56958	D	0.05	.	10.3201	0.43760	0.0:0.7981:0.0:0.2019	.	179;179	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	Y	179	ENSP00000381636:S179Y	ENSP00000381636:S179Y	S	+	2	0	PCDHA11	140229408	0.000000	0.05858	1.000000	0.80357	0.946000	0.59487	-1.440000	0.02412	2.707000	0.92482	0.655000	0.94253	TCT	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.378	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0	33	0	C	NM_018902		140249224	1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.185	A	A	140249224	C	A	140249224	3	1	87	1	0	0	0	0	1	0	0	0	11560	913	32	3	538	3	PCDHA11	5	140249224	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	19635	140249224	40666036	614	23738											
PCDHA12	56137	genome.wustl.edu	37	chr5	140255703	140255703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttattgctgatggtaatcGatggcggtaaaccagaacta	13	12	10	6	2	0	2	0	1	0	1	1	3	0	2	1	3	3	3	1	3	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140255703G>T	ENST00000398631.2	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTAATCGATGGCGGTAA	0.393																																					Pancreas(113;759 1672 13322 24104 50104)												0													84	82	83					5																	140255703		1872	4121	5993	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.646G>T	5.37:g.140255703G>T	ENSP00000381628:p.Asp216Tyr		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D216Y	ENST00000398631.2	37	c.646	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750331	0.49257	.	.	ENSG00000251664	ENST00000398631	T	0.68903	-0.36	5.07	3.26	0.37387	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.89763	0.6809	H	0.99911	4.935	0.34181	D	0.670945	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93273	0.6653	9	0.87932	D	0	.	11.3971	0.49849	0.1443:0.0:0.8557:0.0	.	216;216	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	Y	216	ENSP00000381628:D216Y	ENSP00000381628:D216Y	D	+	1	0	PCDHA12	140235887	1.000000	0.71417	0.005000	0.12908	0.692000	0.40212	4.081000	0.57627	0.516000	0.28340	0.591000	0.81541	GAT	PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.393	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2		0	32	0	G	NM_018903		140255703	1			no_errors	ENST00000398631	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.992	T	T	140255703	G	T	140255703	3	4	87	1	0	0	0	0	1	0	0	0	11561	1058	37	2	648	2	PCDHA12	5	140255703	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6479	140255703	40659557	615	23739											
PCDHA12	56137	genome.wustl.edu	37	chr5	140256353	140256353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgcgggatgggggctcGccttcgctgtgggccacggc	3	7	18	13	5	0	0	0	0	0	0	2	1	0	1	2	5	1	2	2	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140256353G>A	ENST00000398631.2	+	1	1296	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGCTCGCCTTCGCTGT	0.637																																					Pancreas(113;759 1672 13322 24104 50104)												0													140	146	144					5																	140256353		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1296G>A	5.37:g.140256353G>A			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S432	ENST00000398631.2	37	c.1296	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000251664		0.637	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	140	0	G	NM_018903		140256353	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	26.61	80	29	SNP	0.010	A	A	140256353	G	A	140256353	2	1	87	1	0	0	0	0	0	0	0	1	11561	1074	38	1		1	PCDHA12	5	140256353	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	650	140256353	40658907	616	23740											
PCDHA12	56137	genome.wustl.edu	37	chr5	140256977	140256977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgcatcctggatgaggcGgacgctccgcgccaccgcct	7	5	12	17	6	0	1	0	1	0	0	2	3	2	3	5	3	0	2	5	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140256977G>A	ENST00000398631.2	+	1	1920	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	640	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATGAGGCGGACGCTCCGC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)												0													162	152	156					5																	140256977		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1920G>A	5.37:g.140256977G>A			O75278|Q2M1N8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A640	ENST00000398631.2	37	c.1920	CCDS47285.1	5																																																																																			PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000251664		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	130	0	G	NM_018903		140256977	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	silent	33.62	77	39	SNP	0.000	A	A	140256977	G	A	140256977	2	1	87	1	0	0	0	0	0	0	0	1	11561	1103	39	1		1	PCDHA12	5	140256977	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	624	140256977	40658283	617	23741											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347009	140347009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggcctagaccgggagcagGcagccttgcaccacctggtt	8	6	14	13	1	0	1	0	0	0	1	0	2	0	2	5	4	3	4	5	4	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140347009G>A	ENST00000289269.5	+	1	1190	c.658G>A	c.(658-660)Gca>Aca	p.A220T	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGAGCAGGCAGCCTTGCA	0.617																																					Melanoma(190;638 2083 3390 11909 52360)												0													47	43	44					5																	140347009		2203	4300	6503	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.658G>A	5.37:g.140347009G>A	ENSP00000289269:p.Ala220Thr		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A220T	ENST00000289269.5	37	c.658	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579191	0.13686	.	.	ENSG00000243232	ENST00000289269	T	0.50001	0.76	5.44	2.43	0.29744	Cadherin (4);Cadherin-like (1);	0.171342	0.27932	N	0.017271	T	0.20373	0.0490	N	0.03967	-0.31	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.12344	-1.0551	10	0.34782	T	0.22	.	5.7269	0.18018	0.3419:0.1376:0.5204:0.0	.	220;220	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	T	220	ENSP00000289269:A220T	ENSP00000289269:A220T	A	+	1	0	PCDHAC2	140327193	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.163000	0.09997	0.594000	0.29761	0.561000	0.74099	GCA	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.617	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	-	0	20	0	G	NM_018899		140347009	1	tier1	-	no_errors	ENST00000289269	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.001	A	A	140347009	G	A	140347009	3	1	87	1	0	0	0	0	1	0	0	0	11572	1203	42	3	660	3	PCDHAC2	5	140347009	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	90032	140347009	40568251	618	23742											
PCDHB4	56131	genome.wustl.edu	37	chr5	140503443	140503443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtgggcgcacaatggCgaggtgcgcaccgccaggct	6	5	18	12	5	0	0	0	0	0	0	0	1	0	0	2	5	1	3	2	5	1	0	rs17844416	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140503443C>T	ENST00000194152.1	+	1	1863	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACAATGGCGAGGTGCGCA	0.697																																																	0													28	28	28					5																	140503443		2051	4083	6134	SO:0001819	synonymous_variant	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1863C>T	5.37:g.140503443C>T			Q4V761	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G621	ENST00000194152.1	37	c.1863	CCDS4246.1	5																																																																																			PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081818		0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0	142	0	C	NM_018938		140503443	1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	34.00	99	51	SNP	1.000	T	T	140503443	C	T	140503443	2	4	87	1	0	0	0	0	0	0	0	1	11583	755	27	1		1	PCDHB4	5	140503443	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	156434	140503443	40411817	619	23743											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559488	140559488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtgggcgcacaatggcgagGtgcgcaccgccaggctgctg	6	6	17	12	4	0	0	0	0	0	0	0	1	0	0	2	4	2	4	2	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140559488G>A	ENST00000239444.2	+	1	2118	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGGCGAGGTGCGCACCGC	0.706																																																	0													16	19	18					5																	140559488		1939	3884	5823	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1873G>A	5.37:g.140559488G>A	ENSP00000239444:p.Val625Met		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V625M	ENST00000239444.2	37	c.1873	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370579	0.61624	.	.	ENSG00000120322	ENST00000239444	T	0.55930	0.49	4.22	4.22	0.49857	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.74168	0.3681	M	0.89163	3.01	0.33866	D	0.634398	D	0.89917	1.0	D	0.87578	0.998	T	0.83235	-0.0061	9	0.87932	D	0	.	10.0705	0.42330	0.0949:0.0:0.9051:0.0	.	625	Q9UN66	PCDB8_HUMAN	M	625	ENSP00000239444:V625M	ENSP00000239444:V625M	V	+	1	0	PCDHB8	140539672	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.487000	0.45268	1.915000	0.55452	0.298000	0.19748	GTG	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	211	0	G	NM_019120		140559488	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	9.84	165	18	SNP	1.000	A	A	140559488	G	A	140559488	3	1	87	1	0	0	0	0	1	0	0	0	11587	1261	44	3	1875	3	PCDHB8	5	140559488	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	56045	140559488	40355772	620	23744											
PCDHB11	56125	genome.wustl.edu	37	chr5	140579984	140579984	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctcagtttcatcctcTctgctctggatggtgggtcc	4	13	12	12	1	4	0	2	0	2	0	7	2	6	2	2	4	2	3	2	4	0	1	rs147919715		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140579984T>A	ENST00000354757.3	+	1	637	c.637T>A	c.(637-639)Tct>Act	p.S213T	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCATCCTCTCTGCTCTGGA	0.502																																																	0								A	THR/SER	0,4406		0,0,2203	78	80	79		637	1.5	0	5	dbSNP_134	79	2,8598	819.2+/-406.8	0,2,4298	no	missense	PCDHB11	NM_018931.2	58	0,2,6501	AA,AT,TT		0.0233,0.0,0.0154	benign	213/798	140579984	2,13004	2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.637T>A	5.37:g.140579984T>A	ENSP00000346802:p.Ser213Thr		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S213T	ENST00000354757.3	37	c.637	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.290405	0.01387	0.0	2.33E-4	ENSG00000197479	ENST00000354757	T	0.18657	2.2	2.7	1.5	0.22942	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02267	0.0070	N	0.00020	-2.775	0.21499	N	0.999664	B	0.02656	0.0	B	0.04013	0.001	T	0.40098	-0.9581	9	0.02654	T	1	.	4.3608	0.11201	0.7217:0.0:0.1043:0.174	.	213	Q9Y5F2	PCDBB_HUMAN	T	213	ENSP00000346802:S213T	ENSP00000346802:S213T	S	+	1	0	PCDHB11	140560168	0.483000	0.25956	0.003000	0.11579	0.048000	0.14542	5.131000	0.64751	-0.086000	0.12550	-1.386000	0.01163	TCT	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.502	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0	46	0	T	NM_018931		140579984	1			no_errors	ENST00000354757	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.039	A	A	140579984	T	A	140579984	3	1	87	1	0	0	0	0	1	0	0	0	11575	1551	54	5	639	5	PCDHB11	5	140579984	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	20496	140579984	40335276	621	23745			1	22		4	4	87	N	T_C_A	2.827641e-08
PCDHB11	56125	genome.wustl.edu	37	chr5	140579998	140579998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctctgctctggatggTgggtcccctcccaggtctgg	3	12	12	14	0	3	0	0	0	3	0	7	1	6	1	4	5	1	1	4	5	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140579998T>C	ENST00000354757.3	+	1	651	c.651T>C	c.(649-651)ggT>ggC	p.G217G	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGGATGGTGGGTCCCCTC	0.507																																																	0													81	83	83					5																	140579998		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.651T>C	5.37:g.140579998T>C			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G217	ENST00000354757.3	37	c.651	CCDS4253.1	5																																																																																			PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0	55	0	T	NM_018931		140579998	1			no_errors	ENST00000354757	ensembl	human	known	74_37	silent	19.44	28	7	SNP	0.342	C	C	140579998	T	C	140579998	2	2	87	1	0	0	0	0	0	0	0	1	11575	1683	59	4		4	PCDHB11	5	140579998	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	14	140579998	40335262	622	23746			1	22		4	4	87	N	T_C_A	2.827641e-08
PCDHB11	56125	genome.wustl.edu	37	chr5	140580049	140580049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggtggtggttgtggaCattaatgacaactcccctga	9	11	13	8	0	1	2	1	2	0	0	2	3	2	3	2	4	1	1	2	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140580049C>T	ENST00000354757.3	+	1	702	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTTGTGGACATTAATGACA	0.507																																																	0													132	133	132					5																	140580049		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.702C>T	5.37:g.140580049C>T			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D234	ENST00000354757.3	37	c.702	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0	60	0	C	NM_018931		140580049	1			no_errors	ENST00000354757	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.025	T	T	140580049	C	T	140580049	2	4	87	1	0	0	0	0	0	0	0	1	11575	477	17	3		3	PCDHB11	5	140580049	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	51	140580049	40335211	623	23747			1	22		4	4	87	N	T_C_A	2.827641e-08
PCDHB11	56125	genome.wustl.edu	37	chr5	140580070	140580070	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaatgacaactcccctgaAtttgagcaggctttttatga	12	14	7	8	0	0	4	0	4	0	0	1	4	1	4	2	1	2	2	2	1	4	5	rs568326153		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140580070A>G	ENST00000354757.3	+	1	723	c.723A>G	c.(721-723)gaA>gaG	p.E241E	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	241	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCCCCTGAATTTGAGCAGG	0.488													A|||	1	0.000199681	8e-04	0	5008	,	,		17624	0		0	False		,,,				2504	0																0													156	158	158					5																	140580070		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.723A>G	5.37:g.140580070A>G			B4DSF7|Q2M223	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E241	ENST00000354757.3	37	c.723	CCDS4253.1	5																																																																																			PCDHB11	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197479		0.488	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0	57	0	A	NM_018931		140580070	1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.581	G	G	140580070	A	G	140580070	2	3	87	1	0	0	0	0	0	0	0	1	11575	98	4	4		4	PCDHB11	5	140580070	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	21	140580070	40335190	624	23748			1	22		4	4	87	N	T_C_A	2.827641e-08
PCDHB13	56123	genome.wustl.edu	37	chr5	140595476	140595476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggtggtggcggtggacgGcgactcgggccagaacgcct	7	5	18	11	5	0	1	0	0	0	1	1	3	0	2	2	7	1	0	2	7	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140595476G>A	ENST00000341948.4	+	1	1968	c.1781G>A	c.(1780-1782)gGc>gAc	p.G594D		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGTGGACGGCGACTCGGGC	0.716																																																	0													6	8	8					5																	140595476		1675	3424	5099	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1781G>A	5.37:g.140595476G>A	ENSP00000345491:p.Gly594Asp		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G594D	ENST00000341948.4	37	c.1781	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	17.44	3.390147	0.61956	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.50548	0.74	3.3	-0.37	0.12530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.51975	0.1706	L	0.60957	1.885	0.24173	N	0.995615	P	0.51240	0.943	P	0.49597	0.616	T	0.52823	-0.8524	9	0.66056	D	0.02	.	13.3946	0.60843	0.0:0.6282:0.3717:0.0	.	594	Q9Y5F0	PCDBD_HUMAN	D	594;594;540	ENSP00000345491:G594D	ENSP00000345491:G594D	G	+	2	0	PCDHB13	140575660	0.000000	0.05858	0.994000	0.49952	0.976000	0.68499	0.350000	0.20079	0.025000	0.15241	0.298000	0.19748	GGC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.716	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0	93	0	G	NM_018933		140595476	1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	9.30	117	12	SNP	0.849	A	A	140595476	G	A	140595476	3	1	87	1	0	0	0	0	1	0	0	0	11577	1203	42	3	1783	3	PCDHB13	5	140595476	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	15406	140595476	40319784	625	23749											
PCDHB14	56122	genome.wustl.edu	37	chr5	140603942	140603942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatgcatcagaagatattCgtaaaacatttgaaattaat	17	13	5	6	1	1	3	1	1	0	2	3	3	2	3	1	0	2	2	1	0	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140603942C>T	ENST00000239449.4	+	1	865	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.R136C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	289	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAGATATTCGTAAAACATT	0.378																																					Ovarian(141;50 1831 27899 33809 37648)												0													43	47	46					5																	140603942		2201	4300	6501	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.865C>T	5.37:g.140603942C>T	ENSP00000239449:p.Arg289Cys		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R289C	ENST00000239449.4	37	c.865	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	7.626	0.677922	0.14841	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.52983	0.64;0.64	4.75	0.286	0.15710	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47764	0.1463	M	0.89478	3.035	0.09310	N	1	B	0.27732	0.187	B	0.21546	0.035	T	0.48055	-0.9068	9	0.49607	T	0.09	.	4.3959	0.11363	0.2528:0.4394:0.2343:0.0735	.	289	Q9Y5E9	PCDBE_HUMAN	C	136;289	ENSP00000444518:R136C;ENSP00000239449:R289C	ENSP00000239449:R289C	R	+	1	0	PCDHB14	140584126	0.000000	0.05858	0.078000	0.20375	0.873000	0.50193	-0.821000	0.04452	0.109000	0.17891	0.655000	0.94253	CGT	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.378	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	67	0	C	NM_018934		140603942	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	25.00	48	16	SNP	0.000	T	T	140603942	C	T	140603942	3	4	87	1	0	0	0	0	1	0	0	0	11578	884	31	1	867	1	PCDHB14	5	140603942	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	8466	140603942	40311318	626	23750											
PCDHB14	56122	genome.wustl.edu	37	chr5	140604226	140604226	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaatgggaggatgatttgCtctattcaagataacctccc	12	11	9	9	0	2	2	1	1	1	1	3	5	3	4	2	2	2	1	2	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140604226C>T	ENST00000239449.4	+	1	1149	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C	PCDHB14_ENST00000515856.2_Silent_p.C230C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	383	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGATTTGCTCTATTCAAG	0.433																																					Ovarian(141;50 1831 27899 33809 37648)												0													107	112	110					5																	140604226		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1149C>T	5.37:g.140604226C>T			B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.C383	ENST00000239449.4	37	c.1149	CCDS4256.1	5																																																																																			PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.433	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	59	0	C	NM_018934		140604226	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.985	T	T	140604226	C	T	140604226	2	4	87	1	0	0	0	0	0	0	0	1	11578	805	28	3		3	PCDHB14	5	140604226	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	284	140604226	40311034	627	23751											
PCDHGA1	56114	genome.wustl.edu	37	chr5	140710767	140710767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcactccagagctaccaactCagctctaaccctcatttctc	10	11	3	17	0	5	1	3	0	2	1	7	1	6	1	3	0	5	2	3	0	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140710767C>T	ENST00000517417.1	+	1	516	c.516C>T	c.(514-516)ctC>ctT	p.L172L	PCDHGA1_ENST00000378105.3_Silent_p.L172L|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	172	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L172L(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACCAACTCAGCTCTAACC	0.483																																																	2	Substitution - coding silent(2)	lung(2)											104	106	105					5																	140710767		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"Cadherins / Protocadherins : Clustered"	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.516C>T	5.37:g.140710767C>T			Q2M273|Q9Y5D6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L172	ENST00000517417.1	37	c.516	CCDS54922.1	5																																																																																			PCDHGA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204956		0.483	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1		0	24	0	C	NM_018912		140710767	1			no_errors	ENST00000517417	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.984	T	T	140710767	C	T	140710767	2	4	87	1	0	0	0	0	0	0	0	1	11589	813	29	3		3	PCDHGA1	5	140710767	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	106541	140710767	40204493	628	23752											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140724854	140724854	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgaacaaatatcagaataTaacattagtctgagagcctc	16	9	7	9	2	2	2	1	1	1	2	3	4	2	2	1	0	3	0	1	0	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140724854T>A	ENST00000253812.6	+	1	1254	c.1254T>A	c.(1252-1254)taT>taA	p.Y418*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCAGAATATAACATTAGTC	0.458																																																	0													57	63	61					5																	140724854		1964	4159	6123	SO:0001587	stop_gained	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1254T>A	5.37:g.140724854T>A	ENSP00000253812:p.Tyr418*		Q9Y5D4	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y418*	ENST00000253812.6	37	c.1254	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	32	5.174431	0.94807	.	.	ENSG00000254245	ENST00000253812	.	.	.	5.35	2.92	0.33932	.	0.000000	0.30762	U	0.008939	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0885	0.30786	0.0:0.2516:0.0:0.7484	.	.	.	.	X	418	.	ENSP00000253812:Y418X	Y	+	3	2	PCDHGA3	140705038	0.523000	0.26274	1.000000	0.80357	0.885000	0.51271	0.041000	0.13927	0.974000	0.38366	0.533000	0.62120	TAT	PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254245		0.458	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	31	0	T	NM_018916		140724854	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	nonsense	22.86	27	8	SNP	1.000	A	A	140724854	T	A	140724854	4	1	87	1	0	0	0	0	0	1	0	0	11594	1413	49	5	1256	5	PCDHGA3	5	140724854	Nonsense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	14087	140724854	40190406	629	23753											
PCDHGA3	56112	genome.wustl.edu	37	chr5	140725964	140725964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagagctgtgagaaaagCgagcctcttctgataactca	13	8	11	9	1	3	3	1	2	2	2	3	6	3	3	1	1	4	1	1	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140725964C>T	ENST00000253812.6	+	1	2364	c.2364C>T	c.(2362-2364)agC>agT	p.S788S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	788					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGAAAAGCGAGCCTCTTC	0.458																																																	0													81	90	87					5																	140725964		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2364C>T	5.37:g.140725964C>T			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S788	ENST00000253812.6	37	c.2364	CCDS47290.1	5																																																																																			PCDHGA3	-	NULL	ENSG00000254245		0.458	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	-	0	87	0	C	NM_018916		140725964	1	tier1	-	no_errors	ENST00000253812	ensembl	human	known	74_37	silent	23.23	76	23	SNP	0.540	T	T	140725964	C	T	140725964	2	4	87	1	0	0	0	0	0	0	0	1	11594	767	27	1		1	PCDHGA3	5	140725964	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1110	140725964	40189296	630	23754											
PCDHGB1	56104	genome.wustl.edu	37	chr5	140731905	140731905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacctggttgtggccttggCcttgatctcagtgctctttc	3	17	10	11	0	2	1	1	1	2	0	4	1	2	1	3	3	2	2	3	3	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140731905C>T	ENST00000523390.1	+	1	2078	c.2078C>T	c.(2077-2079)gCc>gTc	p.A693V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	693					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGCCTTGGCCTTGATCTCA	0.597																																																	0													140	154	149					5																	140731905		2118	4218	6336	SO:0001583	missense	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"Cadherins / Protocadherins : Clustered"	8708	other	protocadherin	"protocadherin gamma subfamily B, 1, isoform 2"	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2078C>T	5.37:g.140731905C>T	ENSP00000429273:p.Ala693Val		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A693V	ENST00000523390.1	37	c.2078	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	26.2	4.715099	0.89112	.	.	ENSG00000254221	ENST00000523390	T	0.38401	1.14	5.38	5.38	0.77491	.	.	.	.	.	T	0.68970	0.3059	M	0.91140	3.18	0.29688	N	0.841159	D;D	0.89917	1.0;0.997	D;P	0.71414	0.973;0.902	T	0.69442	-0.5144	9	0.45353	T	0.12	.	19.0897	0.93221	0.0:1.0:0.0:0.0	.	693;693	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	V	693	ENSP00000429273:A693V	ENSP00000429273:A693V	A	+	2	0	PCDHGB1	140712089	0.688000	0.27680	0.992000	0.48379	0.920000	0.55202	1.370000	0.34238	2.687000	0.91594	0.561000	0.74099	GCC	PCDHGB1	-	NULL	ENSG00000254221		0.597	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	-	0	44	0	C	NM_018922		140731905	1	tier1	-	no_errors	ENST00000523390	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.999	T	T	140731905	C	T	140731905	3	4	87	1	0	0	0	0	1	0	0	0	11601	739	26	3	2080	3	PCDHGB1	5	140731905	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5941	140731905	40183355	631	23755											
PCDHGA4	56111	genome.wustl.edu	37	chr5	140735562	140735562	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcggctactcaccgtaaaAgccactgatccagatgaagg	13	7	9	12	2	1	3	1	2	0	1	3	3	2	3	3	2	2	2	3	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140735562A>G	ENST00000571252.1	+	1	795	c.795A>G	c.(793-795)aaA>aaG	p.K265K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	265	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCGTAAAAGCCACTGATC	0.468																																																	0													39	42	41					5																	140735562		2002	4169	6171	SO:0001819	synonymous_variant	0			AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.795A>G	5.37:g.140735562A>G			Q9Y5D3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K265	ENST00000571252.1	37	c.795	CCDS58979.1	5																																																																																			PCDHGA4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000262576		0.468	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	HGNC	protein_coding	OTTHUMT00000437959.1	-	0	34	0	A	NM_018917		140735562	1	tier1	-	no_errors	ENST00000571252	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.988	G	G	140735562	A	G	140735562	2	3	87	1	0	0	0	0	0	0	0	1	11595	69	3	4		4	PCDHGA4	5	140735562	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3657	140735562	40179698	632	23756											
PCDHGB3	56102	genome.wustl.edu	37	chr5	140751606	140751606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcgccaacgtgagcctgCgcgtgttggtggacgaccgc	6	7	15	13	6	1	1	1	1	0	0	1	3	1	2	3	2	4	1	3	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140751606C>T	ENST00000576222.1	+	1	1776	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGAGCCTGCGCGTGTTGGT	0.677																																																	0													33	42	39					5																	140751606		2170	4271	6441	SO:0001583	missense	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1645C>T	5.37:g.140751606C>T	ENSP00000461862:p.Arg549Cys		A7E229|Q9Y5C7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R549C	ENST00000576222.1	37	c.1645	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000262209		0.677	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1	-	0	128	0	C	NM_018924		140751606	1	tier1	-	no_errors	ENST00000576222	ensembl	human	known	74_37	missense	25.69	81	28	SNP	0.159	T	T	140751606	C	T	140751606	3	4	87	1	0	0	0	0	1	0	0	0	11603	768	27	1	1647	1	PCDHGB3	5	140751606	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	16044	140751606	40163654	633	23757											
PCDHGC3	5098	genome.wustl.edu	37	chr5	140856435	140856435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagtccttgtaccgggCgcgcgtcctggaggatgcac	7	7	13	14	4	0	0	0	0	0	0	2	2	2	2	4	3	3	2	4	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140856435C>T	ENST00000308177.3	+	1	856	c.752C>T	c.(751-753)gCg>gTg	p.A251V	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	251	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTACCGGGCGCGCGTCCTG	0.597																																																	0													38	37	37					5																	140856435		2202	4298	6500	SO:0001583	missense	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"Cadherins / Protocadherins : Clustered"	8716	other	protocadherin	"cadherin-like 2", "protocadherin 2", "protocadherin 43"	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.752C>T	5.37:g.140856435C>T	ENSP00000312070:p.Ala251Val		O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A251V	ENST00000308177.3	37	c.752	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374361	0.24857	.	.	ENSG00000240184	ENST00000308177	T	0.52295	0.67	5.53	5.53	0.82687	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17492	0.0420	N	0.01515	-0.825	0.30660	N	0.754501	P;B	0.43909	0.821;0.034	B;B	0.37015	0.239;0.003	T	0.08432	-1.0722	9	0.02654	T	1	.	12.9026	0.58133	0.0:0.9266:0.0:0.0734	.	251;251	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	251	ENSP00000312070:A251V	ENSP00000312070:A251V	A	+	2	0	PCDHGC3	140836619	0.952000	0.32445	1.000000	0.80357	0.991000	0.79684	1.902000	0.39848	2.882000	0.98803	0.655000	0.94253	GCG	PCDHGC3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000240184		0.597	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	-	0	32	0	C	NM_002588		140856435	1	tier1	-	no_errors	ENST00000308177	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	T	T	140856435	C	T	140856435	3	4	87	1	0	0	0	0	1	0	0	0	11608	768	27	1	754	1	PCDHGC3	5	140856435	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	104829	140856435	40058825	634	23758											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140870295	140870295	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctactccattgtaggaaaTcaggttcagggagccccagc	11	8	10	12	0	2	0	2	0	0	0	3	2	3	2	4	3	3	2	4	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:140870295T>A	ENST00000252087.1	+	1	1488	c.1488T>A	c.(1486-1488)aaT>aaA	p.N496K	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGGAAATCAGGTTCAGG	0.547																																																	0													94	99	98					5																	140870295		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1488T>A	5.37:g.140870295T>A	ENSP00000252087:p.Asn496Lys		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N496K	ENST00000252087.1	37	c.1488	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	T	5.781	0.328455	0.10956	.	.	ENSG00000240764	ENST00000252087	T	0.50813	0.73	5.56	-1.14	0.09741	Cadherin (4);Cadherin-like (1);	0.408437	0.23989	N	0.042592	T	0.28167	0.0695	L	0.29908	0.895	0.09310	N	1	B;B	0.25486	0.127;0.083	B;B	0.27170	0.047;0.077	T	0.16041	-1.0416	10	0.22109	T	0.4	.	6.2186	0.20669	0.1132:0.3357:0.0:0.5511	.	496;496	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	K	496	ENSP00000252087:N496K	ENSP00000252087:N496K	N	+	3	2	PCDHGC5	140850479	0.900000	0.30661	0.928000	0.36995	0.747000	0.42532	0.325000	0.19628	-0.310000	0.08766	-0.250000	0.11733	AAT	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0	37	0	T	NM_018929		140870295	1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.071	A	A	140870295	T	A	140870295	3	1	87	1	0	0	0	0	1	0	0	0	11610	1432	50	5	1490	5	PCDHGC5	5	140870295	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	13860	140870295	40044965	635	23759											
HDAC3	8841	genome.wustl.edu	37	chr5	141005623	141005623	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcctcttctaccagcagCgatgtctcatatgtcctgaa	9	12	8	12	1	3	1	1	1	3	0	5	2	4	1	3	1	3	1	3	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:141005623C>T	ENST00000305264.3	-	12	1015	c.936G>A	c.(934-936)tcG>tcA	p.S312S	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'UTR	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	312	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTACCAGCAGCGATGTCTCAT	0.547																																																	0													151	141	144					5																	141005623		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.936G>A	5.37:g.141005623C>T			D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.S312	ENST00000305264.3	37	c.936	CCDS4264.1	5																																																																																			HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000171720		0.547	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2		0	18	0	C	NM_003883		141005623	-1			no_errors	ENST00000305264	ensembl	human	known	74_37	silent	16.13	26	5	SNP	0.009	T	T	141005623	C	T	141005623	2	4	87	1	0	0	0	0	0	0	0	1	7035	755	27	1		1	HDAC3	5	141005623	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	135328	141005623	39909637	636	23760											
FCHSD1	89848	genome.wustl.edu	37	chr5	141028581	141028581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagatcccatggtcacttcgGtttagcctgtgcagatgaga	10	11	11	9	1	1	3	1	1	0	3	3	4	2	3	2	2	2	2	2	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:141028581G>A	ENST00000435817.2	-	7	569	c.519C>T	c.(517-519)aaC>aaT	p.N173N	FCHSD1_ENST00000519800.1_Silent_p.N171N|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522783.1_Silent_p.N171N|FCHSD1_ENST00000522126.1_Silent_p.N97N	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	173									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTTCGGTTTAGCCTGT	0.567																																																	0													139	141	140					5																	141028581		2086	4215	6301	SO:0001819	synonymous_variant	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.519C>T	5.37:g.141028581G>A			Q6UX75|Q86Y77|Q9NXX8	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.N173	ENST00000435817.2	37	c.519	CCDS47295.1	5																																																																																			FCHSD1	-	NULL	ENSG00000197948		0.567	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	-	0	61	0	G	NM_033449		141028581	-1	tier1	-	no_errors	ENST00000435817	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.996	A	A	141028581	G	A	141028581	2	1	87	1	0	0	0	0	0	0	0	1	5811	1252	44	3		3	FCHSD1	5	141028581	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	22958	141028581	39886679	637	23761											
POU4F3	5459	genome.wustl.edu	37	chr5	145719506	145719506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtggcccctcatagcgcCatgcctgcatgcctcagcga	7	7	10	17	3	2	0	2	0	0	0	2	1	2	0	6	1	5	1	6	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:145719506C>T	ENST00000230732.4	+	2	605	c.516C>T	c.(514-516)gcC>gcT	p.A172A	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	172					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATAGCGCCATGCCTGCAT	0.672																																																	0													45	46	45					5																	145719506		2203	4299	6502	SO:0001819	synonymous_variant	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"Homeoboxes / POU class"	9220	protein-coding gene	gene with protein product		602460	"POU domain class 4, transcription factor 3"	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.516C>T	5.37:g.145719506C>T			O60557|Q2M3F8	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A172	ENST00000230732.4	37	c.516	CCDS4281.1	5																																																																																			POU4F3	-	NULL	ENSG00000091010		0.672	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0	44	0	C	NM_002700		145719506	1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	silent	14.71	29	5	SNP	1.000	T	T	145719506	C	T	145719506	2	4	87	1	0	0	0	0	0	0	0	1	12319	581	21	3		3	POU4F3	5	145719506	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4690925	145719506	35195754	638	23762											
JAKMIP2	9832	genome.wustl.edu	37	chr5	147023707	147023707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcattagcttggtcgaGgtcattcagagattttaatt	9	18	8	6	1	4	1	3	0	1	1	5	3	4	1	0	2	1	1	0	2	2	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:147023707G>A	ENST00000265272.5	-	7	1605	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L380F|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L338F	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	380						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGGTCGAGGTCATTCAGA	0.383																																																	0													132	126	128					5																	147023707		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.1138C>T	5.37:g.147023707G>A	ENSP00000265272:p.Leu380Phe		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.L380F	ENST00000265272.5	37	c.1138	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185660	0.78789	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.28255	1.62;1.64;1.64	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.76838	2.35	0.58432	D	0.999996	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	D;D;D;D	0.75484	0.986;0.986;0.986;0.986	T	0.48399	-0.9039	10	0.29301	T	0.29	.	14.053	0.64749	0.0724:0.0:0.9276:0.0	.	338;380;380;380	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	F	380;380;338;380	ENSP00000421398:L380F;ENSP00000265272:L380F;ENSP00000328989:L338F	ENSP00000265272:L380F	L	-	1	0	JAKMIP2	147003900	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.376000	0.66178	2.736000	0.93811	0.655000	0.94253	CTC	JAKMIP2	-	NULL	ENSG00000176049		0.383	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0	62	0	G	NM_014790		147023707	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	18.18	54	12	SNP	1.000	A	A	147023707	G	A	147023707	3	1	87	1	0	0	0	0	1	0	0	0	7968	1000	35	3	1354	3	JAKMIP2	5	147023707	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1304201	147023707	33891553	639	23763											
SPINK13	153218	genome.wustl.edu	37	chr5	147649640	147649640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatatgagatcaaatggCtgcctttccccacaagatta	12	13	6	10	0	2	2	1	1	1	2	3	3	3	2	3	1	1	1	3	1	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:147649640C>A	ENST00000512953.1	+	3	536	c.5C>A	c.(4-6)gCt>gAt	p.A2D	SPINK13_ENST00000511106.1_5'UTR|SPINK13_ENST00000398450.4_Missense_Mutation_p.A2D|RP11-373N22.3_ENST00000501695.3_RNA			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	2					negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408																																																	0													228	208	214					5																	147649640		1858	4095	5953	SO:0001583	missense	0				CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"Serine peptidase inhibitors, Kazal type"	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.5C>A	5.37:g.147649640C>A	ENSP00000421048:p.Ala2Asp		A1A4Y2	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.A2D	ENST00000512953.1	37	c.5	CCDS43383.1	5	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419487	0.62622	.	.	ENSG00000214510	ENST00000512953;ENST00000398450	D;D	0.85773	-2.03;-2.03	3.99	3.99	0.46301	.	.	.	.	.	D	0.90109	0.6910	.	.	.	0.24203	N	0.9955	D	0.76494	0.999	D	0.65773	0.938	T	0.81335	-0.0979	8	0.62326	D	0.03	-0.8141	11.9878	0.53157	0.0:1.0:0.0:0.0	.	2	Q1W4C9	ISK13_HUMAN	D	2	ENSP00000421048:A2D;ENSP00000381468:A2D	ENSP00000381468:A2D	A	+	2	0	SPINK13	147629833	0.086000	0.21541	0.924000	0.36721	0.151000	0.21798	0.427000	0.21379	2.533000	0.85409	0.603000	0.83216	GCT	SPINK13	-	NULL	ENSG00000214510		0.408	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK13	HGNC	protein_coding	OTTHUMT00000373337.1	-	0	88	0	C	NM_001040129.2		147649640	1	tier1	-	no_errors	ENST00000398450	ensembl	human	known	74_37	missense	15.62	54	10	SNP	0.945	A	A	147649640	C	A	147649640	3	1	87	1	0	0	0	0	1	0	0	0	15105	797	28	3	7	3	SPINK13	5	147649640	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	625933	147649640	33265620	640	23764											
SH3TC2	79628	genome.wustl.edu	37	chr5	148427444	148427444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaaacagcatgcgcaccTcctggtcctcattctccagt	8	11	6	16	1	2	0	1	0	1	0	5	0	4	0	5	1	3	2	5	1	2	2	rs200560355		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148427444T>C	ENST00000515425.1	-	3	361	c.260A>G	c.(259-261)gAg>gGg	p.E87G	SH3TC2_ENST00000512049.1_Missense_Mutation_p.E87G|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	87					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGCGCACCTCCTGGTCCTC	0.532																																																	0													115	107	110					5																	148427444		2203	4300	6503	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.260A>G	5.37:g.148427444T>C	ENSP00000423660:p.Glu87Gly		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.E87G	ENST00000515425.1	37	c.260	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089731	0.36855	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	T;T	0.80393	-1.36;-1.37	5.38	2.95	0.34219	.	0.219539	0.38605	N	0.001632	T	0.72653	0.3487	L	0.53249	1.67	0.80722	D	1	B;B;B	0.14438	0.005;0.01;0.005	B;B;B	0.14023	0.004;0.01;0.004	T	0.66575	-0.5889	10	0.87932	D	0	.	5.4398	0.16501	0.1534:0.0828:0.0:0.7638	.	87;87;87	Q14CC0;D6RFX2;Q8TF17	.;.;S3TC2_HUMAN	G	87	ENSP00000423660:E87G;ENSP00000421860:E87G	ENSP00000313025:E87G	E	-	2	0	SH3TC2	148407637	1.000000	0.71417	0.960000	0.40013	0.650000	0.38633	1.506000	0.35747	0.424000	0.26061	0.533000	0.62120	GAG	SH3TC2	-	NULL	ENSG00000169247		0.532	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	-	0	43	0	T	NM_024577		148427444	-1	tier1	-	no_errors	ENST00000515425	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.996	C	C	148427444	T	C	148427444	3	2	87	1	0	0	0	0	1	0	0	0	14307	1551	54	4	3666	4	SH3TC2	5	148427444	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	777804	148427444	32487816	641	23765											
AFAP1L1	134265	genome.wustl.edu	37	chr5	148712387	148712387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgcagcagtccctggCaggagggccagccctggggc	5	5	17	14	1	0	0	0	0	0	0	1	1	1	1	3	5	3	4	3	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148712387C>T	ENST00000296721.4	+	17	2203	c.2105C>T	c.(2104-2106)gCa>gTa	p.A702V	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A702V	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	702						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCCCTGGCAGGAGGGCCA	0.652																																																	0													22	23	22					5																	148712387		2203	4299	6502	SO:0001583	missense	0			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"Pleckstrin homology (PH) domain containing"	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.2105C>T	5.37:g.148712387C>T	ENSP00000296721:p.Ala702Val		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A702V	ENST00000296721.4	37	c.2105	CCDS34274.1	5	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360390	0.82353	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.21932	2.19;1.98	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.75484	0.986;0.985	T	0.49925	-0.8887	10	0.87932	D	0	-14.6007	19.3681	0.94473	0.0:1.0:0.0:0.0	.	702;702	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	V	702	ENSP00000296721:A702V;ENSP00000424427:A702V	ENSP00000296721:A702V	A	+	2	0	AFAP1L1	148692580	1.000000	0.71417	0.963000	0.40424	0.310000	0.27922	6.695000	0.74593	2.677000	0.91161	0.655000	0.94253	GCA	AFAP1L1	-	NULL	ENSG00000157510		0.652	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	-	0	37	0	C	NM_152406		148712387	1	tier1	-	no_errors	ENST00000296721	ensembl	human	known	74_37	missense	21.43	33	9	SNP	0.999	T	T	148712387	C	T	148712387	3	4	87	1	0	0	0	0	1	0	0	0	354	710	25	3	2171	3	AFAP1L1	5	148712387	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	284943	148712387	32202873	642	23766											
PCYOX1L	78991	genome.wustl.edu	37	chr5	148747925	148747925	+	Frame_Shift_Del	DEL	C	C	-																															agctgtttggcgagtccagtCccccaagcccctctttcgga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148747925delC	ENST00000274569.4	+	6	1255	c.1193delC	c.(1192-1194)tccfs	p.S398fs	PCYOX1L_ENST00000514349.1_Frame_Shift_Del_p.S308fs	NM_024028.3	NP_076933.3	Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	398					prenylcysteine catabolic process (GO:0030328)	extracellular region (GO:0005576)|membrane (GO:0016020)	prenylcysteine oxidase activity (GO:0001735)	p.S398F(1)		breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGTCCAGTCCCCCAAGCCC	0.597											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(62;1136 1477 27277 27495)												1	Substitution - Missense(1)	prostate(1)											87	92	90					5																	148747925		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS4296.1	5q33.1	2008-02-05			ENSG00000145882	ENSG00000145882			28477	protein-coding gene	gene with protein product						12477932	Standard	NM_024028		Approved	MGC3265	uc003lqk.2	Q8NBM8	OTTHUMG00000130052	ENST00000274569.4:c.1193delC	5.37:g.148747925delC	ENSP00000274569:p.Ser398fs	1719	Q7Z4S2|Q8NCY5|Q8NF69|Q9BTE8|Q9BWS3	Frame_Shift_Del	DEL	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	p.K400fs	ENST00000274569.4	37	c.1193	CCDS4296.1	5																																																																																			PCYOX1L	-	pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase	ENSG00000145882		0.597	PCYOX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYOX1L	HGNC	protein_coding	OTTHUMT00000252331.2		0	130	0	C	NM_024028		148747925	1	tier1		no_errors	ENST00000274569	ensembl	human	known	74_37	frame_shift_del	11.93	96	13	DEL	1.000	-	-	148747925	C	-	148747925	7	5	87	1	0	1	0	1	0	0	0	0	11648	855	30	0	1215	0	PCYOX1L	5	148747925	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	35538	148747925	32167335	643	23767											
IL17B	27190	genome.wustl.edu	37	chr5	148754055	148754055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggctgaacaccggcacGctcaccatgctgcggtcctc	7	7	10	17	3	1	1	1	1	0	0	3	1	2	1	4	3	3	4	4	3	1	0	rs369715279		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:148754055G>A	ENST00000261796.3	-	3	470	c.420C>T	c.(418-420)agC>agT	p.S140S	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	140					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACCGGCACGCTCACCATGC	0.697																																																	0								G		0,4404		0,0,2202	35	35	35		420	2	1	5		35	2,8598		0,2,4298	no	coding-synonymous	IL17B	NM_014443.2		0,2,6500	AA,AG,GG		0.0233,0.0,0.0154		140/181	148754055	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	0			AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"Interleukins and interleukin receptors"	5982	protein-coding gene	gene with protein product	"neuronal interleukin-17-related factor"	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.420C>T	5.37:g.148754055G>A			Q14CE5	Silent	SNP	pfam_IL-17_fam,prints_IL-17_chr	p.S140	ENST00000261796.3	37	c.420	CCDS4297.1	5																																																																																			IL17B	-	pfam_IL-17_fam	ENSG00000127743		0.697	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17B	HGNC	protein_coding	OTTHUMT00000252330.1	-	0	37	0	G	NM_014443		148754055	-1	tier1	-	no_errors	ENST00000261796	ensembl	human	known	74_37	silent	28.12	23	9	SNP	1.000	A	A	148754055	G	A	148754055	2	1	87	1	0	0	0	0	0	0	0	1	7662	1078	38	1		1	IL17B	5	148754055	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6130	148754055	32161205	644	23768											
CAMK2A	815	genome.wustl.edu	37	chr5	149624735	149624735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggcttaccttcacaccatCgctcttcttgtttcccccac	5	13	6	17	1	3	0	1	0	2	0	5	0	4	0	4	2	1	3	4	2	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:149624735C>T	ENST00000348628.6	-	13	1638	c.973G>A	c.(973-975)Gat>Aat	p.D325N	CAMK2A_ENST00000398376.3_Missense_Mutation_p.D325N|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	325					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCACACCATCGCTCTTCTTG	0.617																																																	0													90	98	95					5																	149624735		2021	4186	6207	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"CaM-kinase II alpha chain", "calcium/calmodulin-dependent protein kinase II alpha-B subunit", "CaM kinase II alpha subunit", "CaMK-II alpha subunit", "calcium/calmodulin-dependent protein kinase type II alpha chain"	114078	"calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.973G>A	5.37:g.149624735C>T	ENSP00000261793:p.Asp325Asn		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D325N	ENST00000348628.6	37	c.973	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	c	17.69	3.453037	0.63290	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.68181	-0.3;-0.31	4.85	3.97	0.46021	Protein kinase-like domain (1);	0.068721	0.56097	U	0.000032	T	0.77935	0.4205	M	0.73319	2.225	0.58432	D	0.999999	B;D;B;D	0.76494	0.0;0.999;0.0;0.999	B;P;B;P	0.62740	0.002;0.906;0.001;0.906	T	0.77216	-0.2669	10	0.34782	T	0.22	.	14.9973	0.71443	0.0:0.8564:0.1435:0.0	.	325;325;325;325	Q9UQM7-2;Q9UQM7;A8K161;Q7LDD5	.;KCC2A_HUMAN;.;.	N	325	ENSP00000261793:D325N;ENSP00000381412:D325N	ENSP00000261793:D325N	D	-	1	0	CAMK2A	149604928	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.668000	0.83897	1.011000	0.39340	0.556000	0.70494	GAT	CAMK2A	-	superfamily_Kinase-like_dom	ENSG00000070808		0.617	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2	-	0	45	0	C	NM_015981		149624735	-1	tier1	-	no_errors	ENST00000398376	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	T	T	149624735	C	T	149624735	3	4	87	1	0	0	0	0	1	0	0	0	2606	884	31	1	524	1	CAMK2A	5	149624735	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	870680	149624735	31290525	645	23769											
SYNPO	11346	genome.wustl.edu	37	chr5	150028878	150028878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgtatcccagctcCgaccccaagtcttctcatct	6	13	5	17	1	4	0	1	0	4	0	8	1	7	0	5	0	1	2	5	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:150028878C>T	ENST00000394243.1	+	3	2147	c.1773C>T	c.(1771-1773)tcC>tcT	p.S591S	SYNPO_ENST00000522122.1_Silent_p.S591S|SYNPO_ENST00000519664.1_Silent_p.S347S|SYNPO_ENST00000307662.4_Silent_p.S347S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	591					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCCAGCTCCGACCCCAAGT	0.607																																																	0													72	76	75					5																	150028878		2203	4300	6503	SO:0001819	synonymous_variant	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1773C>T	5.37:g.150028878C>T			A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	NULL	p.S591	ENST00000394243.1	37	c.1773	CCDS54937.1	5																																																																																			SYNPO	-	NULL	ENSG00000171992		0.607	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	-	0	34	0	C	NM_007286		150028878	1	tier1	-	no_errors	ENST00000394243	ensembl	human	known	74_37	silent	26.09	33	12	SNP	0.015	T	T	150028878	C	T	150028878	2	4	87	1	0	0	0	0	0	0	0	1	15503	639	23	1		1	SYNPO	5	150028878	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	404143	150028878	30886382	646	23770											
FAT2	2196	genome.wustl.edu	37	chr5	150885626	150885626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgttcgttcctggagtaagTagggggccagaccatggctc	7	9	15	10	2	0	1	0	0	0	1	3	2	1	2	3	4	0	5	3	4	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:150885626T>C	ENST00000261800.5	-	23	12562	c.12550A>G	c.(12550-12552)Act>Gct	p.T4184A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4184					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGTAAGTAGGGGGCCAG	0.597																																																	0													59	70	66					5																	150885626		2117	4226	6343	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12550A>G	5.37:g.150885626T>C	ENSP00000261800:p.Thr4184Ala		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T4184A	ENST00000261800.5	37	c.12550	CCDS4317.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.142|3.142	-0.176189|-0.176189	0.06380|0.06380	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|.	0.69926|.	-0.44|.	5.02|5.02	0.559|0.559	0.17272|0.17272	.|.	0.443212|.	0.20296|.	N|.	0.095137|.	T|T	0.23926|0.23926	0.0579|0.0579	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.25433|0.25433	-1.0132|-1.0132	10|5	0.34782|.	T|.	0.22|.	.|.	5.7839|5.7839	0.18322|0.18322	0.2358:0.0:0.2192:0.545|0.2358:0.0:0.2192:0.545	.|.	4184;1289|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	A|C	4184|956	ENSP00000261800:T4184A|.	ENSP00000261800:T4184A|.	T|Y	-|-	1|2	0|0	FAT2|FAT2	150865819|150865819	0.002000|0.002000	0.14202|0.14202	0.061000|0.061000	0.19648|0.19648	0.096000|0.096000	0.18686|0.18686	0.300000|0.300000	0.19156|0.19156	0.722000|0.722000	0.32252|0.32252	0.459000|0.459000	0.35465|0.35465	ACT|TAC	FAT2	-	NULL	ENSG00000086570		0.597	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0	57	0	T	NM_001447		150885626	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.000	C	C	150885626	T	C	150885626	3	2	87	1	0	0	0	0	1	0	0	0	5712	1638	57	4	503	4	FAT2	5	150885626	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	856748	150885626	30029634	647	23771											
FAT2	2196	genome.wustl.edu	37	chr5	150923671	150923671	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtgttgttgggcttcAtaatccagttcttgaactgt	9	16	10	6	0	2	2	1	2	1	0	3	2	3	2	1	1	1	4	1	1	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:150923671A>G	ENST00000261800.5	-	9	7029	c.7017T>C	c.(7015-7017)taT>taC	p.Y2339Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2339	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGGGCTTCATAATCCAGTT	0.463																																																	0													114	109	111					5																	150923671		2203	4300	6503	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7017T>C	5.37:g.150923671A>G			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Y2339	ENST00000261800.5	37	c.7017	CCDS4317.1	5																																																																																			FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.463	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	46	0	A	NM_001447		150923671	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.998	G	G	150923671	A	G	150923671	2	3	87	1	0	0	0	0	0	0	0	1	5712	224	8	4		4	FAT2	5	150923671	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	38045	150923671	29991589	648	23772											
GALNT10	55568	genome.wustl.edu	37	chr5	153796475	153796475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacccatcctctctcacccaGcagtggctgtttgaacacac	10	9	6	16	0	2	1	1	1	1	0	4	1	3	1	3	1	3	3	3	1	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:153796475G>A	ENST00000297107.6	+	12	1892	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q	GALNT10_ENST00000377661.2_Silent_p.Q523Q|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Silent_p.Q258Q|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	585	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTCTCACCCAGCAGTGGCTGT	0.532																																																	0													150	138	142					5																	153796475		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1755G>A	5.37:g.153796475G>A			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Q585	ENST00000297107.6	37	c.1755	CCDS4325.1	5																																																																																			GALNT10	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000164574		0.532	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	-	0	78	0	G	NM_198321		153796475	1	tier1	-	no_errors	ENST00000297107	ensembl	human	known	74_37	silent	6.76	68	5	SNP	1.000	A	A	153796475	G	A	153796475	2	1	87	1	0	0	0	0	0	0	0	1	6233	962	34	3		3	GALNT10	5	153796475	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2872804	153796475	27118785	649	23773											
CLINT1	9685	genome.wustl.edu	37	chr5	157236721	157236721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttccaattttatcactcaGctcacctaatttatcactga	11	15	3	12	0	4	1	4	1	0	0	5	1	5	1	2	0	1	2	2	0	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:157236721G>T	ENST00000411809.2	-	6	814	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	CLINT1_ENST00000523908.1_Missense_Mutation_p.L204M|CLINT1_ENST00000523094.1_Missense_Mutation_p.L186M|RNU6-260P_ENST00000384092.1_RNA|CLINT1_ENST00000296951.5_Missense_Mutation_p.L186M|CLINT1_ENST00000530742.1_Missense_Mutation_p.L186M	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	204					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTATCACTCAGCTCACCTAAT	0.398																																					Colon(22;427 587 2170 6147 14291)												0													152	139	143					5																	157236721		1872	4106	5978	SO:0001583	missense	0			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.610C>A	5.37:g.157236721G>T	ENSP00000388340:p.Leu204Met		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.L186M	ENST00000411809.2	37	c.556	CCDS47330.1	5	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853730	0.71719	.	.	ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.95	5.95	0.96441	.	0.056600	0.64402	D	0.000003	T	0.44244	0.1284	L	0.44542	1.39	0.43417	D	0.99556	D;P	0.56035	0.974;0.943	P;P	0.48166	0.569;0.466	T	0.23261	-1.0193	10	0.44086	T	0.13	-8.8767	15.1469	0.72662	0.0:0.0:0.8588:0.1412	.	204;204	B7Z6F8;Q14677	.;EPN4_HUMAN	M	186;186;204;186;204	ENSP00000429345:L186M;ENSP00000433419:L186M;ENSP00000388340:L204M;ENSP00000296951:L186M;ENSP00000429824:L204M	ENSP00000296951:L186M	L	-	1	2	CLINT1	157169299	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.717000	0.68446	2.824000	0.97209	0.655000	0.94253	CTG	CLINT1	-	NULL	ENSG00000113282		0.398	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	-	0	54	0	G	NM_014666		157236721	-1	tier1	-	no_errors	ENST00000296951	ensembl	human	known	74_37	missense	11.76	60	8	SNP	1.000	T	T	157236721	G	T	157236721	3	4	87	1	0	0	0	0	1	0	0	0	3538	962	34	3	1295	3	CLINT1	5	157236721	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3440246	157236721	23678539	650	23774											
EBF1	1879	genome.wustl.edu	37	chr5	158204526	158204526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggaggggtctgcacacGgatggcatgaggagtgatca	10	6	17	8	2	2	2	1	2	1	0	2	6	2	5	1	6	1	2	1	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:158204526G>A	ENST00000313708.6	-	10	1213	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	EBF1_ENST00000517373.1_Missense_Mutation_p.R303C|EBF1_ENST00000380654.4_Missense_Mutation_p.R280C|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	311	IPT/TIG.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCTGCACACGGATGGCATGA	0.458			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													132	123	126					5																	158204526		2203	4300	6503	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.931C>T	5.37:g.158204526G>A	ENSP00000322898:p.Arg311Cys		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.R311C	ENST00000313708.6	37	c.931	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332525	0.81801	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.77358	-1.09;-1.09;-1.09	5.72	5.72	0.89469	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.977;0.995;0.993;0.992	D	0.88876	0.3336	10	0.87932	D	0	-2.9184	15.4945	0.75637	0.0:0.0:0.8611:0.1389	.	311;298;311;280	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	C	311;311;280;303	ENSP00000322898:R311C;ENSP00000370029:R280C;ENSP00000428020:R303C	ENSP00000322898:R311C	R	-	1	0	EBF1	158137104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.603000	0.61105	2.691000	0.91804	0.655000	0.94253	CGT	EBF1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000164330		0.458	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0	32	0	G	NM_024007		158204526	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	37.50	30	18	SNP	1.000	A	A	158204526	G	A	158204526	3	1	87	1	0	0	0	0	1	0	0	0	4894	1116	39	1	872	1	EBF1	5	158204526	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	967805	158204526	22710734	651	23775											
SLIT3	6586	genome.wustl.edu	37	chr5	168123370	168123372	+	In_Frame_Del	DEL	GTT	GTT	-																															gtggcattgttttcgcagtcGttgtcctcacagtcatctgg																								rs564660437		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:168123370_168123372delGTT	ENST00000519560.1	-	28	3426_3428	c.3007_3009delAAC	c.(3007-3009)aacdel	p.N1003del	SLIT3_ENST00000404867.3_In_Frame_Del_p.N1003del|SLIT3_ENST00000332966.8_In_Frame_Del_p.N1010del	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1003	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTCGCAGTCGTTGTCCTCACAG	0.547																																					Ovarian(29;311 847 10864 17279 24903)												0																																										SO:0001651	inframe_deletion	0			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"slit (Drosophila) homolog 3"	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3007_3009delAAC	5.37:g.168123370_168123372delGTT	ENSP00000430333:p.Asn1003del		A6H8U9|J3KNP3|O95804|Q9UFH5	In_Frame_Del	DEL	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.N1003in_frame_del	ENST00000519560.1	37	c.3009_3007	CCDS4369.1	5																																																																																			SLIT3	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184347		0.547	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4		0	51	0	GTT	NM_003062		168123372	-1	tier1		no_errors	ENST00000519560	ensembl	human	known	74_37	in_frame_del	25.00	45	15	DEL	0.954:1.000:1.000	-	-	168123372	GTT	-	168123370	7	5	87	1	0	1	0	1	0	0	0	0	14786	1136	40	0	1598	0	SLIT3	5	168123370	In_Frame_Del	DEL	GTT	TCGA-L5-A8NM-01A-11D-A37C-09	9918844	168123370	12791890	652	23776											
DOCK2	1794	genome.wustl.edu	37	chr5	169484630	169484630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgactgcatacaagctgcCggggatcctgcgctggtttg	6	10	14	11	3	0	1	0	1	0	0	1	2	1	2	2	3	5	4	2	3	2	2	rs561287880		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:169484630C>T	ENST00000256935.8	+	44	4507	c.4427C>T	c.(4426-4428)cCg>cTg	p.P1476L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P537L|DOCK2_ENST00000520908.1_Missense_Mutation_p.P968L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1476	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAAGCTGCCGGGGATCCTG	0.582													C|||	1	0.000199681	8e-04	0	5008	,	,		15193	0		0	False		,,,				2504	0																0													118	96	104					5																	169484630		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4427C>T	5.37:g.169484630C>T	ENSP00000256935:p.Pro1476Leu		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.P1476L	ENST00000256935.8	37	c.4427	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.138124	0.94560	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.51817	0.69;0.69;0.69	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.78892	0.4355	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84939	0.0864	10	0.87932	D	0	.	19.3254	0.94260	0.0:1.0:0.0:0.0	.	968;32;1476	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	L	1476;968;537	ENSP00000256935:P1476L;ENSP00000429283:P968L;ENSP00000438827:P537L	ENSP00000256935:P1476L	P	+	2	0	DOCK2	169417208	1.000000	0.71417	0.474000	0.27266	0.780000	0.44128	7.814000	0.86154	2.556000	0.86216	0.655000	0.94253	CCG	DOCK2	-	pfam_DOCK_C	ENSG00000134516		0.582	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	57	0	C	NM_004946		169484630	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T	T	169484630	C	T	169484630	3	4	87	1	0	0	0	0	1	0	0	0	4701	652	23	1	4601	1	DOCK2	5	169484630	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1361260	169484630	11430630	653	23777											
LCP2	3937	genome.wustl.edu	37	chr5	169697818	169697818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcggctcataatccGcgtcatcttccacgggtgcc	6	9	13	13	4	3	0	2	0	1	0	5	0	5	0	3	4	1	1	3	4	1	2	rs375649336		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:169697818G>T	ENST00000046794.5	-	7	1043	c.428C>A	c.(427-429)gCg>gAg	p.A143E		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	143					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CTCATAATCCGCGTCATCTTC	0.537																																																	0													91	112	105					5																	169697818		2163	4257	6420	SO:0001583	missense	0				CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"SH2 domain containing"	6529	protein-coding gene	gene with protein product	"76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD"	601603	"lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.428C>A	5.37:g.169697818G>T	ENSP00000046794:p.Ala143Glu		A8KA25|Q53XV4	Missense_Mutation	SNP	pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2	p.A143E	ENST00000046794.5	37	c.428	CCDS47339.1	5	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777674	0.31502	.	.	ENSG00000043462	ENST00000046794	T	0.46451	0.87	5.19	5.19	0.71726	.	0.279961	0.33813	N	0.004528	T	0.45135	0.1327	L	0.57536	1.79	0.80722	D	1	P	0.50369	0.934	P	0.45753	0.492	T	0.37911	-0.9685	9	.	.	.	-14.5764	14.5793	0.68274	0.0:0.0:1.0:0.0	.	143	Q13094	LCP2_HUMAN	E	143	ENSP00000046794:A143E	.	A	-	2	0	LCP2	169630396	0.360000	0.24964	0.042000	0.18584	0.006000	0.05464	1.815000	0.38981	2.569000	0.86673	0.655000	0.94253	GCG	LCP2	-	NULL	ENSG00000043462		0.537	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP2	HGNC	protein_coding	OTTHUMT00000371727.1	-	0	76	0	G	NM_005565		169697818	-1	tier1	-	no_errors	ENST00000046794	ensembl	human	known	74_37	missense	16.05	68	13	SNP	0.176	T	T	169697818	G	T	169697818	3	4	87	1	0	0	0	0	1	0	0	0	8720	1087	38	2	1233	2	LCP2	5	169697818	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	213188	169697818	11217442	654	23778											
TLX3	30012	genome.wustl.edu	37	chr5	170736463	170736463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcccggaccaggacagcGcacccgccccgcggggcccc	7	0	13	21	5	0	0	0	0	0	0	0	2	0	2	7	4	2	1	7	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:170736463G>T	ENST00000296921.5	+	1	176	c.94G>T	c.(94-96)Gca>Tca	p.A32S		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	32					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGACAGCGCACCCGCCCC	0.756			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)			Dom	yes		5	5q35.1	30012	"T-cell leukemia, homeobox 3 (HOX11L2)"		L	0													10	12	11					5																	170736463		2167	4250	6417	SO:0001583	missense	0			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"Homeoboxes / ANTP class : NKL subclass"	13532	protein-coding gene	gene with protein product		604640	"homeo box 11-like 2", "T-cell leukemia, homeobox 3"	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.94G>T	5.37:g.170736463G>T	ENSP00000296921:p.Ala32Ser		Q96AD3	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.A32S	ENST00000296921.5	37	c.94	CCDS34288.1	5	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377315	0.24944	.	.	ENSG00000164438	ENST00000296921	D	0.90900	-2.75	4.42	4.42	0.53409	.	0.446865	0.23945	N	0.043016	T	0.75302	0.3831	N	0.02916	-0.46	0.32537	N	0.534179	B	0.13145	0.007	B	0.12156	0.007	T	0.67991	-0.5527	10	0.02654	T	1	.	14.5754	0.68243	0.0:0.0:1.0:0.0	.	32	O43711	TLX3_HUMAN	S	32	ENSP00000296921:A32S	ENSP00000296921:A32S	A	+	1	0	TLX3	170669068	0.995000	0.38212	0.945000	0.38365	0.876000	0.50452	2.037000	0.41174	2.284000	0.76573	0.455000	0.32223	GCA	TLX3	-	NULL	ENSG00000164438		0.756	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TLX3	HGNC	protein_coding	OTTHUMT00000372076.3	-	0	24	0	G			170736463	1	tier1	-	no_errors	ENST00000296921	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	170736463	G	T	170736463	3	4	87	1	0	0	0	0	1	0	0	0	16009	1087	38	2	96	2	TLX3	5	170736463	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1038645	170736463	10178797	655	23779											
DRD1	1812	genome.wustl.edu	37	chr5	174869161	174869161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaaccacacaaacacGtcaaaggtgttggaatcaat	17	6	6	12	1	2	0	2	0	0	0	2	1	2	1	2	2	2	1	2	2	5	1	rs373400500		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:174869161G>A	ENST00000393752.2	-	2	1934	c.942C>T	c.(940-942)gaC>gaT	p.D314D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	314					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACACAAACACGTCAAAGGTGT	0.463																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	80	80	80		942	-10.6	0	5		80	0,8600		0,0,4300	no	coding-synonymous	DRD1	NM_000794.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		314/447	174869161	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"GPCR / Class A : Dopamine receptors"	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.942C>T	5.37:g.174869161G>A			B2RA44|Q4QRJ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam	p.D314	ENST00000393752.2	37	c.942	CCDS4393.1	5																																																																																			DRD1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	ENSG00000184845		0.463	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD1	HGNC	protein_coding	OTTHUMT00000252982.2	-	0	30	0	G	NM_000794		174869161	-1	tier1	-	no_errors	ENST00000393752	ensembl	human	known	74_37	silent	40.00	15	10	SNP	0.059	A	A	174869161	G	A	174869161	2	1	87	1	0	0	0	0	0	0	0	1	4770	1136	40	1		1	DRD1	5	174869161	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4132698	174869161	6046099	656	23780											
CPLX2	10814	genome.wustl.edu	37	chr5	175306035	175306035	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcgtaaggccaagcaCgcgcgcatggaggcggagcg	10	2	19	10	6	0	0	0	0	0	0	0	4	0	3	1	5	3	3	1	5	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:175306035C>T	ENST00000359546.4	+	4	799	c.156C>T	c.(154-156)caC>caT	p.H52H	CPLX2_ENST00000515094.1_Silent_p.H52H|CPLX2_ENST00000393745.3_Silent_p.H52H|CPLX2_ENST00000512824.1_Silent_p.H52H	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	52	Interaction with the SNARE complex. {ECO:0000250}.				cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGCCAAGCACGCGCGCATGG	0.687																																																	0													19	18	19					5																	175306035		2198	4296	6494	SO:0001819	synonymous_variant	0			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.156C>T	5.37:g.175306035C>T			B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Silent	SNP	pfam_Synaphin	p.H52	ENST00000359546.4	37	c.156	CCDS4396.1	5																																																																																			CPLX2	-	pfam_Synaphin	ENSG00000145920		0.687	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX2	HGNC	protein_coding	OTTHUMT00000253157.2	-	0	47	0	C			175306035	1	tier1	-	no_errors	ENST00000359546	ensembl	human	known	74_37	silent	32.35	23	11	SNP	0.897	T	T	175306035	C	T	175306035	2	4	87	1	0	0	0	0	0	0	0	1	3812	535	19	1		1	CPLX2	5	175306035	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	436874	175306035	5609225	657	23781											
ARL10	285598	genome.wustl.edu	37	chr5	175795902	175795902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggactcggctgaccgactgCggctgccctgggcccgacag	5	6	15	15	4	0	1	0	1	0	0	1	4	0	2	3	4	2	2	3	4	0	0	rs140105577		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:175795902C>T	ENST00000310389.5	+	3	574	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	MIR1271_ENST00000408537.1_RNA	NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	160					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		TGACCGACTGCGGCTGCCCTG	0.627																																																	0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	73	73	73		478	4.3	0.6	5	dbSNP_134	73	0,8600		0,0,4300	no	missense	ARL10	NM_173664.4	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	160/245	175795902	1,13005	2203	4300	6503	SO:0001583	missense	0			BK001673	CCDS4400.1	5q35.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000175414	ENSG00000175414		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	22042	protein-coding gene	gene with protein product			"ADP-ribosylation factor-like 10A"	ARL10A			Standard	NM_173664		Approved		uc003mec.1	Q8N8L6	OTTHUMG00000130655	ENST00000310389.5:c.478C>T	5.37:g.175795902C>T	ENSP00000308496:p.Arg160Trp			Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	p.R160W	ENST00000310389.5	37	c.478	CCDS4400.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.56|17.56	3.421099|3.421099	0.62622|0.62622	2.27E-4|2.27E-4	0.0|0.0	ENSG00000175414|ENSG00000175414	ENST00000514533|ENST00000310389	.|T	.|0.79554	.|-1.28	5.16|5.16	4.27|4.27	0.50696|0.50696	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91981|0.91981	0.7460|0.7460	H|H	0.94925|0.94925	3.6|3.6	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.89917	.|0.962;1.0	.|B;D	.|0.97110	.|0.387;1.0	D|D	0.93817|0.93817	0.7115|0.7115	5|10	.|0.87932	.|D	.|0	-40.0923|-40.0923	13.6289|13.6289	0.62183|0.62183	0.1614:0.8386:0.0:0.0|0.1614:0.8386:0.0:0.0	.|.	.|160;160	.|Q8N8L6;Q6PCE2	.|ARL10_HUMAN;.	V|W	17|160	.|ENSP00000308496:R160W	.|ENSP00000308496:R160W	A|R	+|+	2|1	0|2	ARL10|ARL10	175728508|175728508	0.941000|0.941000	0.31946|0.31946	0.585000|0.585000	0.28666|0.28666	0.154000|0.154000	0.21943|0.21943	2.105000|2.105000	0.41825|0.41825	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GCG|CGG	ARL10	-	pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR	ENSG00000175414		0.627	ARL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL10	HGNC	protein_coding	OTTHUMT00000253145.2	-	0	103	0	C	NM_173664		175795902	1	tier1	rs140105577	no_errors	ENST00000310389	ensembl	human	known	74_37	missense	17.54	94	20	SNP	0.996	T	T	175795902	C	T	175795902	3	4	87	1	0	0	0	0	1	0	0	0	926	759	27	1	488	1	ARL10	5	175795902	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	489867	175795902	5119358	658	23782											
RNF44	22838	genome.wustl.edu	37	chr5	175959157	175959157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtaagcgctcatcccGggcaggcgggctggccaggg	6	4	20	11	3	1	0	1	0	0	0	2	1	2	1	2	7	1	4	2	7	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:175959157G>A	ENST00000274811.4	-	3	669	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	RNF44_ENST00000537487.1_Intron|RNF44_ENST00000509404.1_5'Flank	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	49	Pro-rich.						zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCTCATCCCGGGCAGGCGGG	0.731																																																	0													8	12	11					5																	175959157		2166	4225	6391	SO:0001583	missense	0			AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"RING-type (C3HC4) zinc fingers"	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.145C>T	5.37:g.175959157G>A	ENSP00000274811:p.Arg49Trp		B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R49W	ENST00000274811.4	37	c.145	CCDS4404.1	5	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530370	0.45073	.	.	ENSG00000146083	ENST00000274811	T	0.33216	1.42	4.23	2.4	0.29515	.	0.353014	0.25291	N	0.031739	T	0.13628	0.0330	N	0.08118	0	0.80722	D	1	P	0.49185	0.92	B	0.38712	0.28	T	0.05178	-1.0901	10	0.56958	D	0.05	-9.9867	8.4694	0.32975	0.1833:0.0:0.8167:0.0	.	49	Q7L0R7	RNF44_HUMAN	W	49	ENSP00000274811:R49W	ENSP00000274811:R49W	R	-	1	2	RNF44	175891763	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	5.267000	0.65530	0.911000	0.36747	-0.254000	0.11334	CGG	RNF44	-	NULL	ENSG00000146083		0.731	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF44	HGNC	protein_coding	OTTHUMT00000253156.2	-	0	32	0	G			175959157	-1	tier1	-	no_errors	ENST00000274811	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A	A	175959157	G	A	175959157	3	1	87	1	0	0	0	0	1	0	0	0	13541	1115	39	1	1189	1	RNF44	5	175959157	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	163255	175959157	4956103	659	23783											
PDLIM7	9260	genome.wustl.edu	37	chr5	176918059	176918059	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggaaggaacgcgactGgcctgtccccggccgcggcc	6	4	16	15	6	0	0	0	0	0	0	1	4	1	2	5	5	2	0	5	5	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:176918059G>A	ENST00000355841.2	-	6	553	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	PDLIM7_ENST00000356618.4_Nonsense_Mutation_p.Q163*|PDLIM7_ENST00000359895.2_Nonsense_Mutation_p.Q129*|PDLIM7_ENST00000393551.1_Nonsense_Mutation_p.Q163*|PDLIM7_ENST00000355572.2_Nonsense_Mutation_p.Q163*	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	163					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACGCGACTGGCCTGTCCCC	0.682																																																	0													21	25	24					5																	176918059		2200	4299	6499	SO:0001587	stop_gained	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.487C>T	5.37:g.176918059G>A	ENSP00000348099:p.Gln163*		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Nonsense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.Q163*	ENST00000355841.2	37	c.487	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511726	0.44660	.	.	ENSG00000196923	ENST00000359895;ENST00000356618;ENST00000355841;ENST00000393551;ENST00000505074;ENST00000355572;ENST00000393546;ENST00000506161	.	.	.	4.34	3.47	0.39725	.	0.000000	0.42682	D	0.000663	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	11.9018	0.52688	0.0852:0.0:0.9147:0.0	.	.	.	.	X	129;163;163;163;163;163;180;163	.	ENSP00000347776:Q163X	Q	-	1	0	PDLIM7	176850665	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	7.378000	0.79679	0.825000	0.34637	0.467000	0.42956	CAG	PDLIM7	-	NULL	ENSG00000196923		0.682	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	-	0	48	0	G	NM_005451		176918059	-1	tier1	-	no_errors	ENST00000355841	ensembl	human	known	74_37	nonsense	20.00	44	11	SNP	1.000	A	A	176918059	G	A	176918059	4	1	87	1	0	0	0	0	0	1	0	0	11723	1357	47	3	1019	3	PDLIM7	5	176918059	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	958902	176918059	3997201	660	23784											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178699931	178699931	+	Frame_Shift_Del	DEL	C	C	-																															cctgtgtccagggcctgtggCcccccgagaggaggggacgt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:178699931delC	ENST00000251582.7	-	3	770	c.669delG	c.(667-669)gggfs	p.G223fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.G223fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	223					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCCTGTGGCCCCCCGAGAG	0.677																																																	0													46	51	49					5																	178699931		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.669delG	5.37:g.178699931delC	ENSP00000251582:p.Gly223fs			Frame_Shift_Del	DEL	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.P224fs	ENST00000251582.7	37	c.669	CCDS4444.1	5																																																																																			ADAMTS2	-	prints_Pept_M12B_ADAM-TS2	ENSG00000087116		0.677	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1		0	96	0	C	NM_014244		178699931	-1	tier1		no_errors	ENST00000251582	ensembl	human	known	74_37	frame_shift_del	11.83	82	11	DEL	0.001	-	-	178699931	C	-	178699931	7	5	87	1	0	1	0	1	0	0	0	0	265	726	26	0	3121	0	ADAMTS2	5	178699931	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1781872	178699931	2215329	661	23785											
MGAT4B	11282	genome.wustl.edu	37	chr5	179225976	179225976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcggatgaagtcccccGcggcaggggtgaaggcccag	9	3	18	11	3	0	2	0	2	0	0	1	4	1	4	3	6	1	1	3	6	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:179225976G>A	ENST00000292591.7	-	11	1645	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	MGAT4B_ENST00000337755.5_Missense_Mutation_p.A447V|MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	432					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTCCCCCGCGGCAGGGGT	0.642																																					GBM(13;414 434 4098 22176 23230)												0													89	89	89					5																	179225976		2203	4300	6503	SO:0001583	missense	0			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1295C>T	5.37:g.179225976G>A	ENSP00000292591:p.Ala432Val		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.A447V	ENST00000292591.7	37	c.1340	CCDS4448.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.440428|3.440428	0.63067|0.63067	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591;ENST00000519836|ENST00000520969;ENST00000518980	T;T|T	0.34072|0.60548	1.38;1.39|0.18	4.17|4.17	3.3|3.3	0.37823|0.37823	.|.	0.060230|.	0.64402|.	D|.	0.000003|.	T|T	0.65533|0.65533	0.2700|0.2700	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B;B;D|.	0.76494|.	0.046;0.445;0.999|.	B;B;D|.	0.76071|.	0.008;0.02;0.987|.	T|T	0.68198|0.68198	-0.5472|-0.5472	10|7	0.45353|0.72032	T|D	0.12|0.01	-8.7569|-8.7569	11.9417|11.9417	0.52905|0.52905	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	432;447;431|.	Q9UQ53;A8MPR0;Q9UQ53-2|.	MGT4B_HUMAN;.;.|.	V|W	447;432;300|129;178	ENSP00000338487:A447V;ENSP00000292591:A432V|ENSP00000431093:R178W	ENSP00000292591:A432V|ENSP00000431093:R178W	A|R	-|-	2|1	0|2	MGAT4B|MGAT4B	179158582|179158582	1.000000|1.000000	0.71417|0.71417	0.014000|0.014000	0.15608|0.15608	0.948000|0.948000	0.59901|0.59901	9.578000|9.578000	0.98200|0.98200	0.972000|0.972000	0.38314|0.38314	0.561000|0.561000	0.74099|0.74099	GCG|CGG	MGAT4B	-	NULL	ENSG00000161013		0.642	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4B	HGNC	protein_coding	OTTHUMT00000253503.3	-	0	51	0	G	NM_014275		179225976	-1	tier1	-	no_errors	ENST00000337755	ensembl	human	known	74_37	missense	28.95	26	11	SNP	0.992	A	A	179225976	G	A	179225976	3	1	87	1	0	0	0	0	1	0	0	0	9584	1087	38	1	371	1	MGAT4B	5	179225976	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	526045	179225976	1689284	662	23786											
MAPK9	5601	genome.wustl.edu	37	chr5	179691803	179691803	+	Frame_Shift_Del	DEL	T	T	-																															atcttgaaattcttctagagTtttttgtggtgtaaacacat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:179691803delT	ENST00000452135.2	-	4	587	c.289delA	c.(289-291)actfs	p.T97fs	MAPK9_ENST00000425491.2_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000343111.6_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000539014.1_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000347470.4_Frame_Shift_Del_p.T97fs|MAPK9_ENST00000524170.1_5'Flank|MAPK9_ENST00000393360.3_Frame_Shift_Del_p.T97fs			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTTCTAGAGTTTTTTGTGGT	0.254																																																	0													42	43	42					5																	179691803		2187	4283	6470	SO:0001589	frameshift_variant	0			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.289delA	5.37:g.179691803delT	ENSP00000394560:p.Thr97fs		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK	p.T97fs	ENST00000452135.2	37	c.289	CCDS4453.1	5																																																																																			MAPK9	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000050748		0.254	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3		0	49	0	T			179691803	-1	tier1		no_errors	ENST00000452135	ensembl	human	known	74_37	frame_shift_del	28.33	43	17	DEL	1.000	-	-	179691803	T	-	179691803	7	5	87	1	0	1	0	1	0	0	0	0	9325	1725	60	0	1143	0	MAPK9	5	179691803	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	465827	179691803	1223457	663	23787											
FLT4	2324	genome.wustl.edu	37	chr5	180038335	180038335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggacagctgacctggCggccaggctgtggcgctgca	6	6	16	13	2	0	1	0	1	0	0	0	2	0	2	2	5	3	5	2	5	0	0	rs369284915		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:180038335C>T	ENST00000261937.6	-	27	3760	c.3682G>A	c.(3682-3684)Gcc>Acc	p.A1228T	FLT4_ENST00000393347.3_Missense_Mutation_p.A1228T|FLT4_ENST00000502649.1_Missense_Mutation_p.A1228T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1228					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGACCTGGCGGCCAGGCTG	0.607																																					Colon(97;1075 1466 27033 27547 35871)												0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	75	79	77		3682,3682	3.6	0.9	5		77	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLT4	NM_182925.4,NM_002020.4	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1228/1364,1228/1299	180038335	1,13005	2203	4300	6503	SO:0001583	missense	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3682G>A	5.37:g.180038335C>T	ENSP00000261937:p.Ala1228Thr		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.A1228T	ENST00000261937.6	37	c.3682	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161668	0.21538	0.0	1.16E-4	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.76839	-1.05;-1.05;-1.04	4.48	3.61	0.41365	.	.	.	.	.	T	0.55924	0.1951	N	0.08118	0	0.33064	D	0.534436	B;B	0.22683	0.007;0.073	B;B	0.17098	0.002;0.017	T	0.56450	-0.7977	9	0.12766	T	0.61	.	11.3129	0.49375	0.0:0.9144:0.0:0.0856	.	1228;1228	E9PD35;P35916	.;VGFR3_HUMAN	T	1228	ENSP00000261937:A1228T;ENSP00000377016:A1228T;ENSP00000426057:A1228T	ENSP00000261937:A1228T	A	-	1	0	FLT4	179970941	0.952000	0.32445	0.854000	0.33618	0.587000	0.36485	1.971000	0.40530	1.244000	0.43870	0.555000	0.69702	GCC	FLT4	-	NULL	ENSG00000037280		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0	68	0	C			180038335	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	11.59	61	8	SNP	0.895	T	T	180038335	C	T	180038335	3	4	87	1	0	0	0	0	1	0	0	0	5966	768	27	1	433	1	FLT4	5	180038335	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	346532	180038335	876925	664	23788											
FLT4	2324	genome.wustl.edu	37	chr5	180050970	180050970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaaactcggtccaggtgtCcaggctctcgatggggttca	8	9	12	12	2	2	0	1	0	1	0	6	1	4	0	2	5	1	2	2	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr5:180050970C>T	ENST00000261937.6	-	11	1591	c.1513G>A	c.(1513-1515)Gac>Aac	p.D505N	FLT4_ENST00000393347.3_Missense_Mutation_p.D505N|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D505N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	505	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCCAGGTGTCCAGGCTCTCG	0.632																																					Colon(97;1075 1466 27033 27547 35871)												0													103	87	92					5																	180050970		2202	4300	6502	SO:0001583	missense	0			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1513G>A	5.37:g.180050970C>T	ENSP00000261937:p.Asp505Asn		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.D505N	ENST00000261937.6	37	c.1513	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714712	0.89112	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	D;D;D	0.94457	-3.43;-3.43;-3.43	4.72	4.72	0.59763	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95401	0.8507	L	0.46157	1.445	0.52501	D	0.999951	D;B;B;B	0.69078	0.997;0.036;0.013;0.082	D;B;B;B	0.65233	0.933;0.065;0.065;0.065	D	0.93639	0.6963	9	0.20519	T	0.43	.	18.0527	0.89354	0.0:1.0:0.0:0.0	.	505;315;505;505	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	N	505;505;505;315	ENSP00000261937:D505N;ENSP00000377016:D505N;ENSP00000426057:D505N	ENSP00000261937:D505N	D	-	1	0	FLT4	179983576	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.685000	0.61693	2.353000	0.79882	0.561000	0.74099	GAC	FLT4	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000037280		0.632	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	-	0	112	0	C			180050970	-1	tier1	-	no_errors	ENST00000261937	ensembl	human	known	74_37	missense	13.48	77	12	SNP	1.000	T	T	180050970	C	T	180050970	3	4	87	1	0	0	0	0	1	0	0	0	5966	855	30	3	2666	3	FLT4	5	180050970	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	12635	180050970	864290	665	23789											
IRF4	3662	genome.wustl.edu	37	chr6	401645	401645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggatggcccccgacGggctctatgcgaaaagactg	8	8	12	13	3	2	1	0	0	2	1	3	4	3	2	3	3	1	1	3	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:401645G>A	ENST00000380956.4	+	7	1093	c.967G>A	c.(967-969)Ggg>Agg	p.G323R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	323					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G323R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGCCCCCGACGGGCTCTATGC	0.612			T	IGH@	MM																																			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	1	Substitution - Missense(1)	large_intestine(1)											46	48	47					6																	401645		2203	4300	6503	SO:0001583	missense	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.967G>A	6.37:g.401645G>A	ENSP00000370343:p.Gly323Arg		Q5VUI7|Q99660	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.G323R	ENST00000380956.4	37	c.967	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833109	0.91036	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.96522	-4.04	5.76	5.76	0.90799	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98264	1.0500	10	0.56958	D	0.05	-32.0017	19.9857	0.97347	0.0:0.0:1.0:0.0	.	323;353;322;323	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	R	323;352	ENSP00000370343:G323R	ENSP00000370343:G323R	G	+	1	0	IRF4	346645	1.000000	0.71417	0.985000	0.45067	0.615000	0.37417	9.414000	0.97362	2.706000	0.92434	0.655000	0.94253	GGG	IRF4	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000137265		0.612	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	-	0	47	0	G			401645	1	tier1	-	no_errors	ENST00000380956	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	401645	G	A	401645	3	1	87	1	0	0	0	0	1	0	0	0	7859	1116	39	1	989	1	IRF4	6	401645	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		401645	170713422	666	23790											
SERPINB9	5272	genome.wustl.edu	37	chr6	2892189	2892189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcgagcttaaacgtggcctCctgatacatcatctgcactg	9	10	10	12	2	2	1	1	1	1	0	3	2	3	1	2	2	4	2	2	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:2892189C>T	ENST00000380698.4	-	6	690	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	201					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AACGTGGCCTCCTGATACATC	0.572																																																	0													73	75	74					6																	2892189		2203	4300	6503	SO:0001583	missense	0			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"Serine (or cysteine) peptidase inhibitors"	8955	protein-coding gene	gene with protein product		601799	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.601G>A	6.37:g.2892189C>T	ENSP00000370074:p.Glu201Lys		B2RBW3|Q5TD03	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.E201K	ENST00000380698.4	37	c.601	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	C	7.053	0.564894	0.13498	.	.	ENSG00000170542	ENST00000380698	D	0.84146	-1.81	4.07	3.21	0.36854	Serpin domain (3);	0.434052	0.27035	N	0.021248	T	0.45696	0.1355	N	0.16656	0.425	0.33378	D	0.574446	B	0.10296	0.003	B	0.16289	0.015	T	0.25950	-1.0117	10	0.02654	T	1	.	5.1826	0.15167	0.0:0.6783:0.0:0.3217	.	201	P50453	SPB9_HUMAN	K	201	ENSP00000370074:E201K	ENSP00000370074:E201K	E	-	1	0	SERPINB9	2837188	0.000000	0.05858	0.871000	0.34182	0.190000	0.23558	0.420000	0.21263	1.308000	0.44962	0.655000	0.94253	GAG	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	ENSG00000170542		0.572	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1		0	38	0	C			2892189	-1			no_errors	ENST00000380698	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.931	T	T	2892189	C	T	2892189	3	4	87	1	0	0	0	0	1	0	0	0	14153	864	30	3	537	3	SERPINB9	6	2892189	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2490544	2892189	168222878	667	23791											
PRPF4B	8899	genome.wustl.edu	37	chr6	4052975	4052975	+	Frame_Shift_Del	DEL	A	A	-																															atgaacttacgagaggtgttAaaaaaatatggtaaagatgt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:4052975delA	ENST00000337659.6	+	11	2434	c.2334delA	c.(2332-2334)ttafs	p.L778fs	PRPF4B_ENST00000538861.1_Frame_Shift_Del_p.L764fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAGAGGTGTTAAAAAAATATG	0.299																																																	0													76	75	76					6																	4052975		2203	4300	6503	SO:0001589	frameshift_variant	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2334delA	6.37:g.4052975delA	ENSP00000337194:p.Leu778fs		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K780fs	ENST00000337659.6	37	c.2334	CCDS4488.1	6																																																																																			PRPF4B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000112739		0.299	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	HGNC	protein_coding	OTTHUMT00000314018.2		0	30	0	A			4052975	1	tier1		no_errors	ENST00000337659	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	1.000	-	-	4052975	A	-	4052975	7	5	87	1	0	1	0	1	0	0	0	0	12615	359	13	0	2376	0	PRPF4B	6	4052975	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1160786	4052975	167062092	668	23792											
RIOK1	83732	genome.wustl.edu	37	chr6	7398932	7398932	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtttttgtttttggttaggTatcgcatcaaagataaggca	10	16	10	5	2	1	1	1	0	0	1	2	1	1	1	0	3	0	6	0	3	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:7398932T>A	ENST00000379834.2	+	5	946	c.439T>A	c.(439-441)Tat>Aat	p.Y147N		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	147							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTTGGTTAGGTATCGCATCAA	0.318																																																	0													217	210	212					6																	7398932		2203	4300	6503	SO:0001630	splice_region_variant	0			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"RIO kinase 1 (yeast)"				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.438-1T>A	6.37:g.7398932T>A			B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.Y147N	ENST00000379834.2	37	c.439	CCDS4500.1	6	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826212	0.50739	.	.	ENSG00000124784	ENST00000379834	T	0.05319	3.46	5.05	5.05	0.67936	.	0.196582	0.45606	D	0.000353	T	0.02533	0.0077	L	0.33485	1.01	0.58432	D	0.999998	B	0.13145	0.007	B	0.14023	0.01	T	0.43343	-0.9397	10	0.28530	T	0.3	-8.5851	14.2685	0.66138	0.0:0.0:0.0:1.0	.	147	Q9BRS2	RIOK1_HUMAN	N	147	ENSP00000369162:Y147N	ENSP00000369162:Y147N	Y	+	1	0	RIOK1	7343931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.991000	0.70602	2.014000	0.59158	0.482000	0.46254	TAT	RIOK1	-	pirsf_Ser/Thr_kinase_Rio1	ENSG00000124784		0.318	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	-	0	66	0	T	NM_031480	Missense_Mutation	7398932	1	tier1	-	no_errors	ENST00000379834	ensembl	human	known	74_37	missense	11.11	64	8	SNP	1.000	A	A	7398932	T	A	7398932	5	1	87	1	0	0	0	0	0	0	1	0	13422	1652	57	5	457	5	RIOK1	6	7398932	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3345957	7398932	163716135	669	23793											
DSP	1832	genome.wustl.edu	37	chr6	7574376	7574376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaccagcttaaagatatgCttgccaacttcagaggttct	12	12	7	10	0	3	2	2	0	1	2	3	2	3	2	2	1	5	3	2	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:7574376C>A	ENST00000379802.3	+	16	2529	c.2188C>A	c.(2188-2190)Ctt>Att	p.L730I	DSP_ENST00000418664.2_Missense_Mutation_p.L730I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	730	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAAAGATATGCTTGCCAACTT	0.363																																																	0													84	80	82					6																	7574376		2203	4300	6503	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2188C>A	6.37:g.7574376C>A	ENSP00000369129:p.Leu730Ile		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L730I	ENST00000379802.3	37	c.2188	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533912	0.45073	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.74737	-0.87;-0.87	5.51	4.53	0.55603	.	0.000000	0.46758	D	0.000266	T	0.38321	0.1036	N	0.12182	0.205	0.34432	D	0.698612	B;B	0.24043	0.096;0.096	B;B	0.18263	0.012;0.021	T	0.41680	-0.9495	10	0.52906	T	0.07	.	7.7554	0.28921	0.1625:0.7308:0.0:0.1067	.	777;730	Q4LE79;P15924	.;DESP_HUMAN	I	730;730;535	ENSP00000369129:L730I;ENSP00000396591:L730I	ENSP00000369129:L730I	L	+	1	0	DSP	7519375	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	1.273000	0.33121	2.593000	0.87608	0.655000	0.94253	CTT	DSP	-	NULL	ENSG00000096696		0.363	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	-	0	45	0	C	NM_004415		7574376	1	tier1	-	no_errors	ENST00000379802	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.998	A	A	7574376	C	A	7574376	3	1	87	1	0	0	0	0	1	0	0	0	4795	797	28	3	2250	3	DSP	6	7574376	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	175444	7574376	163540691	670	23794											
GCNT2	2651	genome.wustl.edu	37	chr6	10557097	10557097	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattaagctgcttcccaaaCgcttttctggcttccaagat	9	14	6	12	1	1	1	0	0	1	1	3	1	3	1	2	1	3	4	2	1	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:10557097C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000316170.3_Silent_p.N147N|GCNT2_ENST00000495262.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCTTCCCAAACGCTTTTCTGG	0.453																																																	0													86	86	86					6																	10557097		2203	4300	6503	SO:0001627	intron_variant	0			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"Blood group antigens", "Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4204	protein-coding gene	gene with protein product	"Ii blood group", "unassigned linkage group 3"	600429	"glucosaminyl (N-acetyl) transferase 5", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme", "glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)", "cataract, congenital"	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27028C>T	6.37:g.10557097C>T				Silent	SNP	pfam_Glyco_trans_14	p.N147	ENST00000379597.3	37	c.441	CCDS34338.1	6																																																																																			GCNT2	-	pfam_Glyco_trans_14	ENSG00000111846		0.453	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	-	0	27	0	C	NM_145649		10557097	1	tier1	-	no_errors	ENST00000316170	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.576	T	T	10557097	C	T	10557097	1	4	87	0	1	0	0	0	0	0	0	0	6326	535	19	1		1	GCNT2	6	10557097	Intron	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2982721	10557097	160557970	671	23795											
NEDD9	4739	genome.wustl.edu	37	chr6	11191156	11191156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgggggacatcatatgCgtcgttctgagagcccactg	7	9	13	12	3	2	1	1	1	1	1	4	3	2	2	2	2	2	1	2	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:11191156C>T	ENST00000379446.5	-	5	1112	c.946G>A	c.(946-948)Gca>Aca	p.A316T	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.A316T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	316					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.A316T(4)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			ACATCATATGCGTCGTTCTGA	0.572																																																	4	Substitution - Missense(4)	large_intestine(4)											71	74	73					6																	11191156		2203	4300	6503	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"Cas scaffolding proteins"	7733	protein-coding gene	gene with protein product	"Cas scaffolding protein family member 2", "Cas-like"	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.946G>A	6.37:g.11191156C>T	ENSP00000368759:p.Ala316Thr		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A316T	ENST00000379446.5	37	c.946	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627474	0.46944	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.39592	1.07;1.19	5.94	5.94	0.96194	.	0.290933	0.37577	N	0.002028	T	0.23094	0.0558	L	0.57536	1.79	0.80722	D	1	P;P;P	0.52577	0.81;0.825;0.954	B;B;B	0.35039	0.194;0.145;0.163	T	0.19353	-1.0308	10	0.10377	T	0.69	-23.9187	20.3633	0.98874	0.0:1.0:0.0:0.0	.	316;316;316	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	T	316	ENSP00000368759:A316T;ENSP00000422871:A316T	ENSP00000368759:A316T	A	-	1	0	NEDD9	11299142	0.998000	0.40836	0.239000	0.24122	0.059000	0.15707	3.460000	0.53028	2.826000	0.97356	0.561000	0.74099	GCA	NEDD9	-	NULL	ENSG00000111859		0.572	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	-	0	38	0	C	NM_006403		11191156	-1	tier1	-	no_errors	ENST00000379446	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.897	T	T	11191156	C	T	11191156	3	4	87	1	0	0	0	0	1	0	0	0	10352	768	27	1	1570	1	NEDD9	6	11191156	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	634059	11191156	159923911	672	23796											
C6orf105	84830	genome.wustl.edu	37	chr6	11778984	11778984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatatgcatgtagaagtCttcgtcatggcgagtgctga	9	13	13	6	2	2	2	1	1	1	1	3	3	2	2	0	2	2	4	0	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:11778984C>A	ENST00000414691.3	-	1	419	c.9G>T	c.(7-9)aaG>aaT	p.K3N	ADTRP_ENST00000229583.5_Missense_Mutation_p.K3N|ADTRP_ENST00000379413.2_Missense_Mutation_p.K3N	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											ATGTAGAAGTCTTCGTCATGG	0.488																																																	0													149	134	139					6																	11778984		2203	4300	6503	SO:0001583	missense	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"androgen-induced 1-like"	614348	"chromosome 6 open reading frame 105"	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.9G>T	6.37:g.11778984C>A	ENSP00000404416:p.Lys3Asn		B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.K3N	ENST00000414691.3	37	c.9	CCDS4521.1	6	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566929	0.45694	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.51071	1.32;1.17;1.25;0.72;0.73	5.83	0.589	0.17452	.	1.079470	0.06925	N	0.810032	T	0.17534	0.0421	L	0.47716	1.5	0.09310	N	1	P;P	0.38767	0.646;0.454	B;B	0.41571	0.36;0.15	T	0.16778	-1.0391	10	0.17832	T	0.49	-9.2979	0.8081	0.01088	0.1608:0.355:0.1561:0.3282	.	3;3	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	N	3	ENSP00000404416:K3N;ENSP00000229583:K3N;ENSP00000368723:K3N;ENSP00000368726:K3N;ENSP00000422927:K3N	ENSP00000229583:K3N	K	-	3	2	C6orf105	11886970	0.000000	0.05858	0.009000	0.14445	0.261000	0.26267	0.188000	0.17018	0.794000	0.33899	0.491000	0.48974	AAG	ADTRP	-	NULL	ENSG00000111863		0.488	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3	-	0	27	0	C	NM_032744		11778984	-1	tier1	-	no_errors	ENST00000379413	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.000	A	A	11778984	C	A	11778984	3	1	87	1	0	0	0	0	1	0	0	0	2325	912	32	3	765	3	C6orf105	6	11778984	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	587828	11778984	159336083	673	23797											
JARID2	3720	genome.wustl.edu	37	chr6	15513159	15513159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaggaaatgaagcgtcGccatatagctaagccattct	12	11	8	10	2	2	1	1	1	1	0	3	2	2	2	2	1	3	1	2	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:15513159G>A	ENST00000341776.2	+	15	3393	c.3149G>A	c.(3148-3150)cGc>cAc	p.R1050H	JARID2_ENST00000397311.3_Missense_Mutation_p.R878H	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1050					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATGAAGCGTCGCCATATAGCT	0.483																																																	0													174	185	181					6																	15513159		2203	4300	6503	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"jumonji (mouse) homolog", "Jumonji, AT rich interactive domain 2"	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3149G>A	6.37:g.15513159G>A	ENSP00000341280:p.Arg1050His		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.R1050H	ENST00000341776.2	37	c.3149	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948956	0.73787	.	.	ENSG00000008083	ENST00000341776;ENST00000397311	T;T	0.70986	-0.53;-0.53	4.14	3.26	0.37387	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	P	0.60609	0.877	T	0.55623	-0.8112	10	0.16896	T	0.51	-15.4311	12.0912	0.53728	0.0848:0.0:0.9152:0.0	.	1050	Q92833	JARD2_HUMAN	H	1050;878	ENSP00000341280:R1050H;ENSP00000380478:R878H	ENSP00000341280:R1050H	R	+	2	0	JARID2	15621138	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.052000	0.93855	1.088000	0.41272	0.609000	0.83330	CGC	JARID2	-	NULL	ENSG00000008083		0.483	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1	-	0	59	0	G	NM_004973		15513159	1	tier1	-	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	A	A	15513159	G	A	15513159	3	1	87	1	0	0	0	0	1	0	0	0	7972	1087	38	1	3207	1	JARID2	6	15513159	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3734175	15513159	155601908	674	23798											
KIF13A	63971	genome.wustl.edu	37	chr6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-																															atacctgttttattgctgacTttttttatctgttcatccag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:17788023delT	ENST00000259711.6	-	27	3450	c.3345delA	c.(3343-3345)aaafs	p.K1115fs	KIF13A_ENST00000378826.2_Frame_Shift_Del_p.K1115fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.K1102fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.K1115fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.K1102fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1115					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATTGCTGACTTTTTTTATCT	0.413																																																	0													304	278	286					6																	17788023		1868	4107	5975	SO:0001589	frameshift_variant	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3345delA	6.37:g.17788023delT	ENSP00000259711:p.Lys1115fs		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1116fs	ENST00000259711.6	37	c.3345	CCDS47381.1	6																																																																																			KIF13A	-	NULL	ENSG00000137177		0.413	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4		0	83	0	T			17788023	-1	tier1		no_errors	ENST00000259711	ensembl	human	known	74_37	frame_shift_del	16.83	84	17	DEL	1.000	-	-	17788023	T	-	17788023	7	5	87	1	0	1	0	1	0	0	0	0	8301	1606	56	0	2149	0	KIF13A	6	17788023	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2274864	17788023	153327044	675	23799											
PGBD1	84547	genome.wustl.edu	37	chr6	28268581	28268581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaacactctgaaggaccGtcacccaggtgatttgtggg	9	11	12	9	1	2	3	1	3	1	0	2	4	2	4	2	3	1	0	2	3	2	2	rs199718652		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:28268581G>A	ENST00000405948.2	+	7	1370	c.950G>A	c.(949-951)cGt>cAt	p.R317H	PGBD1_ENST00000259883.3_Missense_Mutation_p.R317H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	317						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGAAGGACCGTCACCCAGGT	0.473																																																	0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	75	75	75		950,950	-2.2	0	6		75	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PGBD1	NM_001184743.1,NM_032507.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	317/810,317/810	28268581	1,13005	2203	4300	6503	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.950G>A	6.37:g.28268581G>A	ENSP00000385213:p.Arg317His		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.R317H	ENST00000405948.2	37	c.950	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	6.264	0.416863	0.11870	0.0	1.16E-4	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01464	4.86;4.86	4.73	-2.18	0.07037	.	0.953235	0.08637	N	0.916195	T	0.00440	0.0014	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41431	-0.9509	10	0.25751	T	0.34	-19.0595	5.5122	0.16886	0.4972:0.1452:0.3576:0.0	.	317	Q96JS3	PGBD1_HUMAN	H	317	ENSP00000385213:R317H;ENSP00000259883:R317H	ENSP00000259883:R317H	R	+	2	0	PGBD1	28376560	0.000000	0.05858	0.002000	0.10522	0.377000	0.30045	-0.776000	0.04674	-0.606000	0.05746	-0.812000	0.03155	CGT	PGBD1	-	NULL	ENSG00000137338		0.473	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	-	0	38	0	G			28268581	1	tier1	rs199718652	no_errors	ENST00000259883	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.012	A	A	28268581	G	A	28268581	3	1	87	1	0	0	0	0	1	0	0	0	11819	1145	40	1	972	1	PGBD1	6	28268581	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10480558	28268581	142846486	676	23800											
ZNRD1	30834	genome.wustl.edu	37	chr6	30030078	30030078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcgttcagccgatgaaggGcaaactgtcttctacacctg	10	10	10	11	2	3	1	1	1	2	0	3	2	3	1	2	1	4	2	2	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30030078G>A	ENST00000332435.5	+	3	595	c.324G>A	c.(322-324)ggG>ggA	p.G108G	ZNRD1-AS1_ENST00000452229.1_RNA|ZNRD1_ENST00000376782.2_Silent_p.G108G|ZNRD1_ENST00000359374.4_Silent_p.G108G|ZNRD1_ENST00000376785.2_Silent_p.G108G|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1-AS1_ENST00000421692.1_RNA|ZNRD1-AS1_ENST00000376797.3_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000431012.1_RNA	NM_170783.2	NP_740753.1	Q9P1U0	RPA12_HUMAN	zinc ribbon domain containing 1	108					nucleobase-containing compound metabolic process (GO:0006139)|termination of RNA polymerase I transcription (GO:0006363)	DNA-directed RNA polymerase I complex (GO:0005736)	DNA-directed RNA polymerase activity (GO:0003899)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										CCGATGAAGGGCAAACTGTCT	0.478																																																	0													175	114	136					6																	30030078		1511	2709	4220	SO:0001819	synonymous_variant	0			AF024617	CCDS4670.1	6p21	2011-02-18	2006-04-04		ENSG00000066379	ENSG00000066379			13182	protein-coding gene	gene with protein product		607525	"zinc ribbon domain containing, 1"			8938444, 10662553	Standard	NM_170783		Approved	hZR14, HTEX-6, tctex-6, RPA12	uc003npa.3	Q9P1U0	OTTHUMG00000031149	ENST00000332435.5:c.324G>A	6.37:g.30030078G>A				Silent	SNP	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS	p.G108	ENST00000332435.5	37	c.324	CCDS4670.1	6																																																																																			ZNRD1	-	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS	ENSG00000066379		0.478	ZNRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRD1	HGNC	protein_coding	OTTHUMT00000076272.2	-	0	45	0	G			30030078	1	tier1	-	no_errors	ENST00000332435	ensembl	human	known	74_37	silent	7.04	65	5	SNP	0.991	A	A	30030078	G	A	30030078	2	1	87	1	0	0	0	0	0	0	0	1	18258	1190	42	3		3	ZNRD1	6	30030078	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1761497	30030078	141084989	677	23801											
TRIM10	10107	genome.wustl.edu	37	chr6	30128469	30128469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctttgcagagtgggcaaGtaggggactcctccaggtct	7	11	14	9	0	2	1	0	0	2	1	4	2	4	2	2	4	1	4	2	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30128469G>A	ENST00000449742.2	-	1	242	c.167C>T	c.(166-168)aCt>aTt	p.T56I	TRIM15_ENST00000376694.4_5'Flank|TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.T56I	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	56					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GAGTGGGCAAGTAGGGGACTC	0.622																																																	0													153	161	158					6																	30128469		2203	4300	6503	SO:0001583	missense	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.167C>T	6.37:g.30128469G>A	ENSP00000397073:p.Thr56Ile		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T56I	ENST00000449742.2	37	c.167	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	G	0.552	-0.848877	0.02651	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	D;D	0.84516	-1.86;-1.86	5.37	1.33	0.21861	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.982501	0.08312	N	0.965210	T	0.60779	0.2295	L	0.42529	1.33	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.48127	-0.9062	10	0.30854	T	0.27	.	4.4529	0.11630	0.0853:0.2856:0.4873:0.1418	.	56;56	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	I	56	ENSP00000397073:T56I;ENSP00000365894:T56I	ENSP00000365894:T56I	T	-	2	0	TRIM10	30236448	0.007000	0.16637	0.018000	0.16275	0.097000	0.18754	0.253000	0.18296	0.290000	0.22444	0.549000	0.68633	ACT	TRIM10	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000204613		0.622	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	-	0	69	0	G			30128469	-1	tier1	-	no_errors	ENST00000449742	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.007	A	A	30128469	G	A	30128469	3	1	87	1	0	0	0	0	1	0	0	0	16534	1029	36	3	1394	3	TRIM10	6	30128469	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	98391	30128469	140986598	678	23802											
VARS2	57176	genome.wustl.edu	37	chr6	30893443	30893443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcagcagctccctccGgctgggcccaggctccactc	5	5	12	19	2	0	0	0	0	0	0	4	0	3	0	4	4	2	5	4	4	0	0	rs528157661		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30893443G>A	ENST00000321897.5	+	27	3540	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S	VARS2_ENST00000542001.1_Missense_Mutation_p.G830S|VARS2_ENST00000416670.2_Missense_Mutation_p.G970S|VARS2_ENST00000541562.1_Missense_Mutation_p.G1000S|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	970					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGCTCCCTCCGGCTGGGCCCA	0.667													G|||	1	0.000199681	8e-04	0	5008	,	,		15704	0		0	False		,,,				2504	0																0													13	15	15					6																	30893443		1497	2702	4199	SO:0001583	missense	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.2908G>A	6.37:g.30893443G>A	ENSP00000316092:p.Gly970Ser		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.G1000S	ENST00000321897.5	37	c.2998	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020947	0.54576	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.56	5.56	0.83823	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.279181	0.32852	N	0.005572	T	0.07234	0.0183	L	0.48362	1.52	0.38848	D	0.956206	P;B;B;B	0.35011	0.48;0.008;0.061;0.057	B;B;B;B	0.28232	0.071;0.004;0.03;0.087	T	0.05435	-1.0885	10	0.66056	D	0.02	-16.7692	15.0102	0.71545	0.0:0.0:1.0:0.0	.	408;968;1000;970	Q5ST30-2;B7ZL25;F5GXJ0;Q5ST30	.;.;.;SYVM_HUMAN	S	970;970;830;1000	ENSP00000316092:G970S;ENSP00000394802:G970S;ENSP00000438200:G830S;ENSP00000441000:G1000S	ENSP00000316092:G970S	G	+	1	0	VARS2	31001422	0.622000	0.27085	0.932000	0.37286	0.538000	0.34931	0.754000	0.26390	2.617000	0.88574	0.655000	0.94253	GGC	VARS2	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000137411		0.667	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2		0	35	0	G	NM_020442		30893443	1			no_errors	ENST00000541562	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.981	A	A	30893443	G	A	30893443	3	1	87	1	0	0	0	0	1	0	0	0	17173	1116	39	1	3108	1	VARS2	6	30893443	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	764974	30893443	140221624	679	23803											
DPCR1	135656	genome.wustl.edu	37	chr6	30917619	30917619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaccatccccagcagggCctacagaaaacagagaaacg	16	2	8	15	1	0	2	0	0	0	2	1	3	1	2	5	1	4	1	5	1	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:30917619C>T	ENST00000462446.1	+	2	1406	c.1378C>T	c.(1378-1380)Cct>Tct	p.P460S	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	352						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CCCAGCAGGGCCTACAGAAAA	0.512																																																	0													297	357	339					6																	30917619		692	1591	2283	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1378C>T	6.37:g.30917619C>T	ENSP00000417182:p.Pro460Ser		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.P460S	ENST00000462446.1	37	c.1378	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	0.016	-1.519179	0.00967	.	.	ENSG00000168631	ENST00000462446	T	0.54071	0.59	0.701	0.701	0.18104	.	.	.	.	.	T	0.23649	0.0572	M	0.70275	2.135	0.41774	D	0.989781	P	0.44659	0.84	B	0.32980	0.156	T	0.15321	-1.0441	9	0.18276	T	0.48	.	7.4735	0.27363	0.0:1.0:0.0:0.0	.	460	E9PEI6	.	S	460	ENSP00000417182:P460S	ENSP00000417182:P460S	P	+	1	0	DPCR1	31025598	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-3.321000	0.00513	0.741000	0.32674	0.423000	0.28283	CCT	DPCR1	-	NULL	ENSG00000168631		0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	-	0	76	0	C	NM_080870		30917619	1	tier1	-	no_errors	ENST00000462446	ensembl	human	novel	74_37	missense	14.46	71	12	SNP	0.012	T	T	30917619	C	T	30917619	3	4	87	1	0	0	0	0	1	0	0	0	4726	739	26	3	1384	3	DPCR1	6	30917619	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	24176	30917619	140197448	680	23804											
CDSN	170679	genome.wustl.edu	37	chr6	31084700	31084700	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccggagtgcgagacgatgGgccctccactgcagggagag	8	4	18	11	3	0	2	0	0	0	2	1	6	1	3	3	4	2	1	3	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31084700G>T	ENST00000259881.9	+	1	61				PSORS1C1_ENST00000467107.1_3'UTR|CDSN_ENST00000376288.2_Missense_Mutation_p.P231H	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CGAGACGATGGGCCCTCCACT	0.637																																																	0													50	54	53					6																	31084700		2203	4300	6503	SO:0001627	intron_variant	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"chromosome 6 open reading frame 16"	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2032G>T	6.37:g.31084700G>T			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	NULL	p.P231H	ENST00000259881.9	37	c.692	CCDS34390.1	6	.	.	.	.	.	.	.	.	.	.	G	8.940	0.965623	0.18583	.	.	ENSG00000204539	ENST00000376288	T	0.08807	3.05	4.12	4.12	0.48240	.	0.144833	0.32068	N	0.006637	T	0.10252	0.0251	L	0.34521	1.04	0.31610	N	0.65163	D	0.89917	1.0	D	0.87578	0.998	T	0.01232	-1.1411	10	0.87932	D	0	-17.5382	12.2158	0.54406	0.0:0.0:1.0:0.0	.	231	Q15517	CDSN_HUMAN	H	231	ENSP00000365465:P231H	ENSP00000365465:P231H	P	-	2	0	CDSN	31192679	0.454000	0.25728	0.476000	0.27291	0.023000	0.10783	2.060000	0.41394	2.017000	0.59298	0.448000	0.29417	CCC	CDSN	-	NULL	ENSG00000204539		0.637	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	HGNC	protein_coding	OTTHUMT00000076110.3	-	0	55	0	G	NM_014068		31084700	-1	tier1	-	no_errors	ENST00000376288	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.891	T	T	31084700	G	T	31084700	1	4	87	0	1	0	0	0	0	0	0	0	3186	1232	43	3		3	CDSN	6	31084700	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	167081	31084700	140030367	681	23805											
POU5F1	5460	genome.wustl.edu	37	chr6	31132949	31132949	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatgtggctgatctgctGcagtgtgggtttcgggcact	4	12	17	8	2	1	1	0	1	1	0	2	2	1	1	0	4	2	5	0	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31132949G>A	ENST00000259915.8	-	4	844	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	POU5F1_ENST00000471529.2_Nonsense_Mutation_p.Q62*|POU5F1_ENST00000512818.1_Nonsense_Mutation_p.Q62*|POU5F1_ENST00000606567.1_Nonsense_Mutation_p.Q88*|POU5F1_ENST00000441888.3_Nonsense_Mutation_p.Q62*|POU5F1_ENST00000513407.1_Nonsense_Mutation_p.Q62*	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	258					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	CTGATCTGCTGCAGTGTGGGT	0.572			T	EWSR1	sarcoma																																			Dom	yes		6	6p21.31	5460	"POU domain, class 5, transcription factor 1"		M	0													49	30	37					6																	31132949		1509	2704	4213	SO:0001587	stop_gained	0			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.772C>T	6.37:g.31132949G>A	ENSP00000259915:p.Gln258*		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Nonsense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.Q258*	ENST00000259915.8	37	c.772	CCDS34391.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.544163	0.98348	.	.	ENSG00000204531	ENST00000541552;ENST00000512818;ENST00000259915;ENST00000441888;ENST00000471529	.	.	.	6.05	6.05	0.98169	.	0.000000	0.53938	D	0.000042	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	163;62;258;62;62	.	ENSP00000259915:Q258X	Q	-	1	0	POU5F1	31240928	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.500000	0.73687	2.876000	0.98609	0.637000	0.83480	CAG	POU5F1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000204531		0.572	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	HGNC	protein_coding	OTTHUMT00000076413.4	-	0	60	0	G	NM_002701		31132949	-1	tier1	-	no_errors	ENST00000259915	ensembl	human	known	74_37	nonsense	21.15	41	11	SNP	1.000	A	A	31132949	G	A	31132949	4	1	87	1	0	0	0	0	0	1	0	0	12320	1328	46	3	318	3	POU5F1	6	31132949	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	48249	31132949	139982118	682	23806											
HLA-C	3107	genome.wustl.edu	37	chr6	31239045	31239045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtaatccttgccgtcgtAggcggactggtcatacccgc	7	10	12	12	4	1	0	1	0	0	0	3	2	2	1	3	3	2	2	3	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31239045A>G	ENST00000376228.5	-	3	438	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y142H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	142	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						TTGCCGTCGTAGGCGGACTGG	0.711																																																	0													36	28	30					6																	31239045		2185	4254	6439	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.424T>C	6.37:g.31239045A>G	ENSP00000365402:p.Tyr142His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.Y142H	ENST00000376228.5	37	c.424	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.24|14.24	2.476086|2.476086	0.44044|0.44044	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.00272	.|8.36;8.36	2.59|2.59	2.59|2.59	0.31030|0.31030	.|MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.254509	.|0.20143	.|U	.|0.098339	T|T	0.00967|0.00967	0.0032|0.0032	H|H	0.99999|0.99999	5.605|5.605	0.27640|0.27640	N|N	0.94776|0.94776	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.53443|0.53443	-0.8438|-0.8438	5|10	.|0.87932	.|D	.|0	.|.	8.9691|8.9691	0.35894|0.35894	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|142;142;142;142	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	P|H	141|142;142;142;179	.|ENSP00000365402:Y142H;ENSP00000372819:Y142H	.|ENSP00000365402:Y142H	L|Y	-|-	2|1	0|0	HLA-C|HLA-C	31347024|31347024	0.133000|0.133000	0.22466|0.22466	0.014000|0.014000	0.15608|0.15608	0.036000|0.036000	0.12997|0.12997	2.874000|2.874000	0.48483|0.48483	1.442000|1.442000	0.47568|0.47568	0.254000|0.254000	0.18369|0.18369	CTA|TAC	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a	ENSG00000204525		0.711	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	0	78	0	A	NM_002117		31239045	-1	tier1	-	no_errors	ENST00000383329	ensembl	human	known	74_37	missense	16.98	44	9	SNP	0.882	G	G	31239045	A	G	31239045	3	3	87	1	0	0	0	0	1	0	0	0	7224	420	15	4	700	4	HLA-C	6	31239045	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	106096	31239045	139876022	683	23807											
HLA-C	3107	genome.wustl.edu	37	chr6	31239628	31239628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacacggcggtgtcgaaatAcctcatggagtgggagcctg	9	7	16	9	3	1	0	1	0	0	0	2	4	1	3	2	5	2	0	2	5	2	1	rs281860324		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31239628A>G	ENST00000376228.5	-	2	105	c.91T>C	c.(91-93)Tat>Cat	p.Y31H	HLA-C_ENST00000383329.3_Missense_Mutation_p.Y31H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	31	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTGTCGAAATACCTCATGGAG	0.731																																																	0													16	17	16					6																	31239628		1485	2688	4173	SO:0001583	missense	0			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4933	protein-coding gene	gene with protein product		142840	"psoriasis susceptibility 1"	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.91T>C	6.37:g.31239628A>G	ENSP00000365402:p.Tyr31His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.Y31H	ENST00000376228.5	37	c.91	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	12.66|12.66	2.006090|2.006090	0.35415|0.35415	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000415537|ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	.|T;T	.|0.01838	.|4.61;4.61	2.38|2.38	2.38|2.38	0.29361|0.29361	.|MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.271696	.|0.19196	.|U	.|0.120318	T|T	0.16685|0.16685	0.0401|0.0401	H|H	0.99985|0.99985	5.245|5.245	0.21290|0.21290	N|N	0.999735|0.999735	.|D;D;D;D	.|0.89917	.|0.999;0.999;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.999;0.999;0.999;1.0	T|T	0.41770|0.41770	-0.9490|-0.9490	5|10	.|0.87932	.|D	.|0	.|.	6.6836|6.6836	0.23132|0.23132	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|31;31;31;31	.|A2AEA4;A6H578;A2AEA2;P10321	.|.;.;.;1C07_HUMAN	A|H	30|31;31;31;68	.|ENSP00000365402:Y31H;ENSP00000372819:Y31H	.|ENSP00000365402:Y31H	V|Y	-|-	2|1	0|0	HLA-C|HLA-C	31347607|31347607	0.009000|0.009000	0.17119|0.17119	0.511000|0.511000	0.27724|0.27724	0.030000|0.030000	0.12068|0.12068	1.211000|1.211000	0.32382|0.32382	1.345000|1.345000	0.45676|0.45676	0.254000|0.254000	0.18369|0.18369	GTA|TAT	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204525		0.731	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	0	89	0	A	NM_002117		31239628	-1	tier1	-	no_errors	ENST00000383329	ensembl	human	known	74_37	missense	13.83	81	13	SNP	0.622	G	G	31239628	A	G	31239628	3	3	87	1	0	0	0	0	1	0	0	0	7224	391	14	4	1037	4	HLA-C	6	31239628	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	583	31239628	139875439	684	23808											
NFKBIL1	534	genome.wustl.edu	37	chr6	31515510	31515510	+	5'Flank	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttccagaggaagaagcCtccacatctgtctgccgggt	9	8	12	12	1	2	2	0	0	2	2	4	3	4	3	4	3	2	1	4	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31515510C>A	ENST00000303892.5	-	0	0				ATP6V1G2-DDX39B_ENST00000376185.1_5'Flank|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|ATP6V1G2_ENST00000376151.4_5'Flank|ATP6V1G2_ENST00000483251.1_5'Flank|NFKBIL1_ENST00000376145.4_Silent_p.A13A|ATP6V1G2_ENST00000483170.1_5'Flank|NFKBIL1_ENST00000376148.4_Silent_p.A13A	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGGAAGAAGCCTCCACATCTG	0.478																																																	0													30	30	30					6																	31515510		1511	2709	4220	SO:0001631	upstream_gene_variant	0			Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"ATPases / V-type"	862	protein-coding gene	gene with protein product		606853	"ATPase, H+ transporting, lysosomal (vacuolar proton pump)", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618		6.37:g.31515510C>A	Exception_encountered		B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Silent	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.A13	ENST00000303892.5	37	c.39	CCDS4698.1	6																																																																																			NFKBIL1	-	NULL	ENSG00000204498		0.478	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIL1	HGNC	protein_coding	OTTHUMT00000076399.3	-	0	152	0	C	NM_130463		31515510	1	tier1	-	no_errors	ENST00000376148	ensembl	human	known	74_37	silent	11.84	134	18	SNP	1.000	A	A	31515510	C	A	31515510	1	1	87	0	1	0	0	0	0	0	0	0	10420	668	24	3		3	NFKBIL1	6	31515510	5'Flank	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	275882	31515510	139599557	685	23809											
C6orf27	80737	genome.wustl.edu	37	chr6	31743902	31743902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggtcattcctggaagttgGcaggaagtcctgggctgcat	7	10	16	8	0	1	0	1	0	0	0	3	2	3	2	2	6	1	4	2	6	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31743902G>A	ENST00000375688.4	-	3	552	c.352C>T	c.(352-354)Cca>Tca	p.P118S	VWA7_ENST00000467576.1_Intron|VWA7_ENST00000447450.1_Missense_Mutation_p.P118S|VWA7_ENST00000375686.3_Missense_Mutation_p.P118S|Y_RNA_ENST00000364685.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	118						extracellular region (GO:0005576)											CTGGAAGTTGGCAGGAAGTCC	0.622																																																	0													107	101	103					6																	31743902		2203	4300	6503	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"chromosome 6 open reading frame 27"	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.352C>T	6.37:g.31743902G>A	ENSP00000364840:p.Pro118Ser		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.P118S	ENST00000375688.4	37	c.352	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	G	3.011	-0.203826	0.06180	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.12774	2.65;2.65;2.65	5.53	3.36	0.38483	.	0.532999	0.18965	N	0.126286	T	0.01523	0.0049	N	0.15975	0.35	0.23101	N	0.998292	B	0.12630	0.006	B	0.12837	0.008	T	0.46386	-0.9195	10	0.06891	T	0.86	-2.7841	4.4064	0.11411	0.0936:0.1557:0.5908:0.16	.	118	Q9Y334	G7C_HUMAN	S	118	ENSP00000364840:P118S;ENSP00000364838:P118S;ENSP00000390554:P118S	ENSP00000364838:P118S	P	-	1	0	C6orf27	31851881	1.000000	0.71417	0.977000	0.42913	0.349000	0.29174	2.247000	0.43151	1.298000	0.44778	0.650000	0.86243	CCA	VWA7	-	NULL	ENSG00000204396		0.622	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	-	0	46	0	G	NM_025258		31743902	-1	tier1	-	no_errors	ENST00000375686	ensembl	human	known	74_37	missense	20.00	44	11	SNP	0.611	A	A	31743902	G	A	31743902	3	1	87	1	0	0	0	0	1	0	0	0	2369	1203	42	3	2382	3	C6orf27	6	31743902	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	228392	31743902	139371165	686	23810											
VARS	7407	genome.wustl.edu	37	chr6	31749717	31749717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccactcacccagtaccGcccatcagggtcctgccaca	8	6	8	19	2	2	0	2	0	0	0	4	0	4	0	6	1	2	1	6	1	1	1	rs368988920		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31749717G>A	ENST00000375663.3	-	19	2694	c.2254C>T	c.(2254-2256)Cgg>Tgg	p.R752W	VARS_ENST00000482996.1_5'UTR|VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	752					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCCAGTACCGCCCATCAGGG	0.627																																																	0								G	TRP/ARG	2,3020		0,2,1509	95	111	105		2254	4.6	0.4	6		105	0,5418		0,0,2709	no	missense	VARS	NM_006295.2	101	0,2,4218	AA,AG,GG		0.0,0.0662,0.0237	probably-damaging	752/1265	31749717	2,8438	1511	2709	4220	SO:0001583	missense	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2254C>T	6.37:g.31749717G>A	ENSP00000364815:p.Arg752Trp		B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase	p.R752W	ENST00000375663.3	37	c.2254	CCDS34412.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.15|14.15	2.451026|2.451026	0.43531|0.43531	6.62E-4|6.62E-4	0.0|0.0	ENSG00000204394|ENSG00000204394	ENST00000428445|ENST00000375663	.|T	.|0.36520	.|1.25	5.51|5.51	4.63|4.63	0.57726|0.57726	.|Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	.|0.204155	.|0.47852	.|D	.|0.000202	T|T	0.31104|0.31104	0.0786|0.0786	N|N	0.21282|0.21282	0.65|0.65	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.66979	.|0.948	T|T	0.29336|0.29336	-1.0015|-1.0015	5|10	.|0.87932	.|D	.|0	-10.4345|-10.4345	11.3474|11.3474	0.49569|0.49569	0.0:0.0:0.6701:0.3299|0.0:0.0:0.6701:0.3299	.|.	.|752	.|P26640	.|SYVC_HUMAN	V|W	69|752	.|ENSP00000364815:R752W	.|ENSP00000364815:R752W	A|R	-|-	2|1	0|2	VARS|VARS	31857696|31857696	0.997000|0.997000	0.39634|0.39634	0.449000|0.449000	0.26957|0.26957	0.283000|0.283000	0.27025|0.27025	2.363000|2.363000	0.44178|0.44178	1.307000|1.307000	0.44944|0.44944	0.563000|0.563000	0.77884|0.77884	GCG|CGG	VARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase	ENSG00000204394		0.627	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	HGNC	protein_coding	OTTHUMT00000076619.2	-	0	31	0	G	NM_006295		31749717	-1	tier1	-	no_errors	ENST00000375663	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	A	A	31749717	G	A	31749717	3	1	87	1	0	0	0	0	1	0	0	0	17172	1086	38	1	1588	1	VARS	6	31749717	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5815	31749717	139365350	687	23811											
ZBTB12	221527	genome.wustl.edu	37	chr6	31868164	31868164	+	Frame_Shift_Del	DEL	C	C	-																															cgcccccaggctgccccccgCcccccgggcagccatggcca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:31868164delC	ENST00000375527.2	-	2	1094	c.919delG	c.(919-921)gcgfs	p.A307fs	C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375530.4_5'Flank|EHMT2_ENST00000375537.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	307	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						ctgccccccgccccccgggcA	0.716																																																	0													1	2	2					6																	31868164		890	1802	2692	SO:0001589	frameshift_variant	0			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.919delG	6.37:g.31868164delC	ENSP00000364677:p.Ala307fs		B0UY00|Q5JQ98	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A307fs	ENST00000375527.2	37	c.919	CCDS4727.1	6																																																																																			ZBTB12	-	NULL	ENSG00000204366		0.716	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2		0	37	0	C	NM_181842		31868164	-1	tier1		no_errors	ENST00000375527	ensembl	human	known	74_37	frame_shift_del	22.50	31	9	DEL	0.002	-	-	31868164	C	-	31868164	7	5	87	1	0	1	0	1	0	0	0	0	17573	739	26	0	464	0	ZBTB12	6	31868164	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	118447	31868164	139246903	688	23812											
TNXB	7148	genome.wustl.edu	37	chr6	32010327	32010327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggtcctggaggcacCggctccgttctgcatctcct	3	11	13	14	2	2	0	0	0	2	0	5	1	4	1	4	5	2	5	4	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:32010327C>T	ENST00000375244.3	-	40	12316	c.12115G>A	c.(12115-12117)Ggt>Agt	p.G4039S	TNXB_ENST00000451343.1_Missense_Mutation_p.G468S|TNXB_ENST00000375247.2_Missense_Mutation_p.G4037S			P22105	TENX_HUMAN	tenascin XB	4084	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGAGGCACCGGCTCCGTTC	0.657																																																	0													29	21	24					6																	32010327		1506	2704	4210	SO:0001583	missense	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.12115G>A	6.37:g.32010327C>T	ENSP00000364393:p.Gly4039Ser		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G4037S	ENST00000375244.3	37	c.12109		6	.	.	.	.	.	.	.	.	.	.	c	0.434	-0.901788	0.02453	.	.	ENSG00000168477	ENST00000375244;ENST00000451343;ENST00000375247	T;T;T	0.76186	-1.0;-1.0;-1.0	4.45	-5.74	0.02391	.	0.923247	0.09083	N	0.850957	T	0.32041	0.0816	L	0.28400	0.85	0.09310	N	1	B	0.19706	0.038	B	0.17433	0.018	T	0.38887	-0.9640	10	0.07482	T	0.82	.	12.7956	0.57558	0.0:0.3502:0.0:0.6498	.	4037	P22105-3	.	S	4039;468;4037	ENSP00000364393:G4039S;ENSP00000407685:G468S;ENSP00000364396:G4037S	ENSP00000364393:G4039S	G	-	1	0	TNXB	32118306	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-5.261000	0.00136	-1.266000	0.02446	0.558000	0.71614	GGT	TNXB	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000168477		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0	55	0	C	NM_019105		32010327	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	missense	24.59	45	15	SNP	0.000	T	T	32010327	C	T	32010327	3	4	87	1	0	0	0	0	1	0	0	0	16393	652	23	1	2624	1	TNXB	6	32010327	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	142163	32010327	139104740	689	23813											
TNXB	7148	genome.wustl.edu	37	chr6	32030199	32030199	+	Frame_Shift_Del	DEL	G	G	-																															tcctccaggcgaggcttgatGgggggttcaggggtgggagg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:32030199delG	ENST00000375244.3	-	20	7104	c.6903delC	c.(6901-6903)cccfs	p.P2301fs	TNXB_ENST00000375247.2_Frame_Shift_Del_p.P2301fs			P22105	TENX_HUMAN	tenascin XB	2363	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGCTTGATGGGGGGTTCAG	0.607																																																	0													39	44	42					6																	32030199		1318	2560	3878	SO:0001589	frameshift_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6903delC	6.37:g.32030199delG	ENSP00000364393:p.Pro2301fs		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.I2302fs	ENST00000375244.3	37	c.6903		6																																																																																			TNXB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2		0	60	0	G	NM_019105		32030199	-1	tier1		no_errors	ENST00000375247	ensembl	human	known	74_37	frame_shift_del	18.64	48	11	DEL	0.002	-	-	32030199	G	-	32030199	7	5	87	1	0	1	0	1	0	0	0	0	16393	1335	47	0	7910	0	TNXB	6	32030199	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	19872	32030199	139084868	690	23814											
SLC39A7	7922	genome.wustl.edu	37	chr6	33171577	33171577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatcatgatggtgctgattgCccaccttgagtgaggggtgg	7	12	15	7	0	1	4	1	4	0	0	1	4	1	4	2	4	2	1	2	4	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33171577C>T	ENST00000374677.3	+	7	1770	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V	SLC39A7_ENST00000374675.3_Missense_Mutation_p.A466V|RXRB_ENST00000544186.1_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	466				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGCTGATTGCCCACCTTGAG	0.597																																																	0													58	61	60					6																	33171577		2001	4159	6160	SO:0001583	missense	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"Solute carriers"	4927	protein-coding gene	gene with protein product		601416	"HLA class II region expressed gene KE4"	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1397C>T	6.37:g.33171577C>T	ENSP00000363809:p.Ala466Val		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.A466V	ENST00000374677.3	37	c.1397	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024657	0.75390	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.55234	0.53;0.53	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.90870	3.155	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.994;0.998	T	0.80228	-0.1469	10	0.72032	D	0.01	-10.7891	15.3789	0.74637	0.0:1.0:0.0:0.0	.	447;466	B4DVK8;Q92504	.;S39A7_HUMAN	V	466;447;371;466	ENSP00000363807:A466V;ENSP00000363809:A466V	ENSP00000363807:A466V	A	+	2	0	SLC39A7	33279555	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	5.918000	0.69996	2.494000	0.84150	0.549000	0.68633	GCC	SLC39A7	-	pfam_ZIP	ENSG00000112473		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2		0	43	0	C	NM_006979		33171577	1			no_errors	ENST00000374675	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	33171577	C	T	33171577	3	4	87	1	0	0	0	0	1	0	0	0	14668	739	26	3	1423	3	SLC39A7	6	33171577	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1141378	33171577	137943490	691	23815											
KIFC1	3833	genome.wustl.edu	37	chr6	33374231	33374231	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagcagcctgtccacgCtggggctggttatcatggcc	7	10	12	12	1	1	0	1	0	0	0	2	0	2	0	3	4	3	4	3	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33374231C>T	ENST00000428849.2	+	8	2245	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	599	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCTGTCCACGCTGGGGCTGGT	0.647																																																	0													37	41	40					6																	33374231		2203	4300	6503	SO:0001819	synonymous_variant	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1795C>T	6.37:g.33374231C>T			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L599	ENST00000428849.2	37	c.1795	CCDS34430.1	6																																																																																			KIFC1	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000237649		0.647	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	-	0	43	0	C	NM_002263		33374231	1	tier1	-	no_errors	ENST00000428849	ensembl	human	known	74_37	silent	26.67	44	16	SNP	0.999	T	T	33374231	C	T	33374231	2	4	87	1	0	0	0	0	0	0	0	1	8339	796	28	3		3	KIFC1	6	33374231	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	202654	33374231	137740836	692	23816											
PHF1	5252	genome.wustl.edu	37	chr6	33380050	33380050	+	Frame_Shift_Del	DEL	C	C	-																															cccaggatgcaatggcgcagCccccccggctgagccgctct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33380050delC	ENST00000374516.3	+	2	281	c.10delC	c.(10-12)cccfs	p.P5fs	PHF1_ENST00000459809.1_3'UTR|PHF1_ENST00000374512.3_Frame_Shift_Del_p.P5fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	5					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				AATGGCGCAGCCCCCCCGGCT	0.567																																																	0													23	25	25					6																	33380050		2203	4300	6503	SO:0001589	frameshift_variant	0			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"Tudor domain containing", "Zinc fingers, PHD-type"	8919	protein-coding gene	gene with protein product	"tudor domain containing 19C"	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.10delC	6.37:g.33380050delC	ENSP00000363640:p.Pro5fs		B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R6fs	ENST00000374516.3	37	c.10	CCDS4777.1	6																																																																																			PHF1	-	NULL	ENSG00000112511		0.567	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF1	HGNC	protein_coding	OTTHUMT00000076175.3		0	47	0	C			33380050	1	tier1		no_errors	ENST00000374516	ensembl	human	known	74_37	frame_shift_del	16.67	25	5	DEL	1.000	-	-	33380050	C	-	33380050	7	5	87	1	0	1	0	1	0	0	0	0	11859	739	26	0	12	0	PHF1	6	33380050	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	5819	33380050	137735017	693	23817											
ITPR3	3710	genome.wustl.edu	37	chr6	33651920	33651920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgaggcctaccagcgcTgcgagagtgggggcttcctg	6	7	17	11	2	0	2	0	1	0	1	1	3	1	2	3	3	3	3	3	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33651920T>C	ENST00000374316.5	+	37	5972	c.4912T>C	c.(4912-4914)Tgc>Cgc	p.C1638R	ITPR3_ENST00000605930.1_Missense_Mutation_p.C1638R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1638					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTACCAGCGCTGCGAGAGTGG	0.672																																																	0													81	82	82					6																	33651920		2203	4300	6503	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4912T>C	6.37:g.33651920T>C	ENSP00000363435:p.Cys1638Arg		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.C1638R	ENST00000374316.5	37	c.4912	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489136	0.84962	.	.	ENSG00000096433	ENST00000374316	D	0.93953	-3.32	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.95924	0.8673	M	0.86864	2.845	0.80722	D	1	D	0.59767	0.986	P	0.59546	0.859	D	0.96631	0.9467	10	0.87932	D	0	-31.2547	15.271	0.73702	0.0:0.0:0.0:1.0	.	1638	Q14573	ITPR3_HUMAN	R	1638	ENSP00000363435:C1638R	ENSP00000363435:C1638R	C	+	1	0	ITPR3	33759898	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.274000	0.72587	2.004000	0.58718	0.528000	0.53228	TGC	ITPR3	-	NULL	ENSG00000096433		0.672	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0	78	0	T	NM_002224		33651920	1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	C	C	33651920	T	C	33651920	3	2	87	1	0	0	0	0	1	0	0	0	7949	1580	55	4	5054	4	ITPR3	6	33651920	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	271870	33651920	137463147	694	23818											
IP6K3	117283	genome.wustl.edu	37	chr6	33696073	33696073	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaggtgcactgtgacGgtacctgcaaacacacaggg	11	7	12	11	1	0	2	0	1	0	1	1	2	1	2	2	3	4	3	2	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:33696073G>T	ENST00000293756.4	-	3	530	c.204C>A	c.(202-204)acC>acA	p.T68T	IP6K3_ENST00000451316.1_Silent_p.T68T	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	68					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GCACTGTGACGGTACCTGCAA	0.562																																																	0													59	54	55					6																	33696073		2203	4300	6503	SO:0001819	synonymous_variant	0			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"inositol hexaphosphate kinase 3"	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.204C>A	6.37:g.33696073G>T			Q96MQ9	Silent	SNP	pfam_IPK	p.T68	ENST00000293756.4	37	c.204	CCDS34435.1	6																																																																																			IP6K3	-	NULL	ENSG00000161896		0.562	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1		0	31	0	G	NM_054111		33696073	-1			no_errors	ENST00000293756	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.151	T	T	33696073	G	T	33696073	2	4	87	1	0	0	0	0	0	0	0	1	7817	1103	39	2		2	IP6K3	6	33696073	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	44153	33696073	137418994	695	23819											
GRM4	2914	genome.wustl.edu	37	chr6	34059793	34059793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcctggtacgtgtcCgagggcaccacgcgggagaa	7	5	17	12	4	0	1	0	0	0	1	1	3	1	1	4	4	1	2	4	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:34059793C>T	ENST00000538487.2	-	3	1046	c.603G>A	c.(601-603)tcG>tcA	p.S201S	GRM4_ENST00000609222.1_Silent_p.S68S|GRM4_ENST00000455714.2_Silent_p.S61S|GRM4_ENST00000374177.3_Silent_p.S132S|GRM4_ENST00000374181.4_Silent_p.S201S|GRM4_ENST00000535756.1_Silent_p.S68S|GRM4_ENST00000544773.2_Silent_p.S32S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	201					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGTACGTGTCCGAGGGCACCA	0.632																																																	0													123	90	102					6																	34059793		2203	4300	6503	SO:0001819	synonymous_variant	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.603G>A	6.37:g.34059793C>T			B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.S201	ENST00000538487.2	37	c.603	CCDS4787.1	6																																																																																			GRM4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_GABA_rcpt_B	ENSG00000124493		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0	24	0	C			34059793	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	silent	28.21	28	11	SNP	1.000	T	T	34059793	C	T	34059793	2	4	87	1	0	0	0	0	0	0	0	1	6826	639	23	1		1	GRM4	6	34059793	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	363720	34059793	137055274	696	23820											
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34831896	34831896	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatttgatggtgtctcAttggatagcagtggccctga	8	13	12	8	0	2	2	2	2	1	0	3	3	2	3	1	3	1	1	1	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:34831896A>G	ENST00000192788.5	+	15	3504	c.3333A>G	c.(3331-3333)tcA>tcG	p.S1111S	UHRF1BP1_ENST00000452449.2_Silent_p.S1111S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1111							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATGGTGTCTCATTGGATAGCA	0.532																																																	0													151	158	155					6																	34831896		2060	4207	6267	SO:0001819	synonymous_variant	0			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3333A>G	6.37:g.34831896A>G			Q9NXE0	Silent	SNP	NULL	p.S1111	ENST00000192788.5	37	c.3333	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL	ENSG00000065060		0.532	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	-	0	53	0	A	NM_017754		34831896	1	tier1	-	no_errors	ENST00000192788	ensembl	human	known	74_37	silent	18.03	50	11	SNP	0.030	G	G	34831896	A	G	34831896	2	3	87	1	0	0	0	0	0	0	0	1	17017	204	8	4		4	UHRF1BP1	6	34831896	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	772103	34831896	136283171	697	23821											
SCUBE3	222663	genome.wustl.edu	37	chr6	35205687	35205687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctaaacagagacctgtGctgtcaacaacgggggctgt	10	8	11	12	1	1	1	1	0	0	1	2	2	2	1	3	2	4	2	3	2	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35205687G>A	ENST00000274938.7	+	7	721	c.721G>A	c.(721-723)Gct>Act	p.A241T	SCUBE3_ENST00000394681.1_Missense_Mutation_p.A257T	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGAGACCTGTGCTGTCAACAA	0.577																																																	0													143	125	131					6																	35205687		2203	4300	6503	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.721G>A	6.37:g.35205687G>A	ENSP00000274938:p.Ala241Thr			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.A257T	ENST00000274938.7	37	c.769	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042406	0.93685	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.96396	-4.0;-4.0	5.38	4.51	0.55191	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95500	0.8538	L	0.47190	1.495	0.80722	D	1	D;P	0.54964	0.969;0.935	P;P	0.57009	0.811;0.494	D	0.95392	0.8482	10	0.56958	D	0.05	.	13.4901	0.61390	0.0751:0.0:0.9249:0.0	.	257;241	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	T	257;241	ENSP00000378174:A257T;ENSP00000274938:A241T	ENSP00000274938:A241T	A	+	1	0	SCUBE3	35313665	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.937000	0.87672	2.523000	0.85059	0.491000	0.48974	GCT	SCUBE3	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin	ENSG00000146197		0.577	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0	86	0	G	NM_152753		35205687	1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	14.47	65	11	SNP	1.000	A	A	35205687	G	A	35205687	3	1	87	1	0	0	0	0	1	0	0	0	13991	1319	46	3	747	3	SCUBE3	6	35205687	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	373791	35205687	135909380	698	23822											
SCUBE3	222663	genome.wustl.edu	37	chr6	35213121	35213121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcaaccccccacccaagCgcaagatccttatcgtggta	12	7	6	16	2	1	1	1	0	0	1	3	1	2	1	5	1	2	2	5	1	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35213121C>T	ENST00000274938.7	+	19	2518	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R856C	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.R840C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCCACCCAAGCGCAAGATCCT	0.557																																																	1	Substitution - Missense(1)	urinary_tract(1)											111	102	105					6																	35213121		2203	4300	6503	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2518C>T	6.37:g.35213121C>T	ENSP00000274938:p.Arg840Cys			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.R856C	ENST00000274938.7	37	c.2566	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457467	0.84317	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.35236	1.32;1.32	5.44	5.44	0.79542	CUB (5);	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.58629	-0.7603	10	0.87932	D	0	.	13.4743	0.61299	0.2748:0.7252:0.0:0.0	.	856;840	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	C	856;840	ENSP00000378174:R856C;ENSP00000274938:R840C	ENSP00000274938:R840C	R	+	1	0	SCUBE3	35321099	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.053000	0.49901	2.558000	0.86282	0.655000	0.94253	CGC	SCUBE3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000146197		0.557	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0	77	0	C	NM_152753		35213121	1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	34.94	54	29	SNP	1.000	T	T	35213121	C	T	35213121	3	4	87	1	0	0	0	0	1	0	0	0	13991	768	27	1	2592	1	SCUBE3	6	35213121	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	7434	35213121	135901946	699	23823											
ZNF76	7629	genome.wustl.edu	37	chr6	35259168	35259168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgcagaagcatgtcCgtacccacactggtatgctg	10	8	11	12	1	0	2	0	0	0	2	1	3	1	2	3	1	4	5	3	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35259168C>T	ENST00000373953.3	+	8	1005	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	ZNF76_ENST00000440666.2_Missense_Mutation_p.R221C|ZNF76_ENST00000339411.5_Missense_Mutation_p.R247C	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	247					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GAAGCATGTCCGTACCCACAC	0.572																																					Esophageal Squamous(52;92 1039 20612 23956 34676)												0													85	69	74					6																	35259168		2203	4300	6503	SO:0001583	missense	0			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"Zinc fingers, C2H2-type"	13149	protein-coding gene	gene with protein product		194549	"zinc finger protein 76 (expressed in testis)"	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.739C>T	6.37:g.35259168C>T	ENSP00000363064:p.Arg247Cys		Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R247C	ENST00000373953.3	37	c.739	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369219	0.82463	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44097	D	0.000490	T	0.74764	0.3759	M	0.93420	3.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.985	T	0.80425	-0.1388	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	247;247;247	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	C	247;247;247;247;221;247	ENSP00000419106:R247C;ENSP00000363064:R247C;ENSP00000392243:R221C;ENSP00000344097:R247C	ENSP00000344097:R247C	R	+	1	0	ZNF76	35367146	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	3.217000	0.51184	2.941000	0.99782	0.655000	0.94253	CGT	ZNF76	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000065029		0.572	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	-	0	28	0	C	NM_003427		35259168	1	tier1	-	no_errors	ENST00000373953	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	T	T	35259168	C	T	35259168	3	4	87	1	0	0	0	0	1	0	0	0	18183	652	23	1	765	1	ZNF76	6	35259168	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	46047	35259168	135855899	700	23824											
DEF6	50619	genome.wustl.edu	37	chr6	35287364	35287364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctgcccggcagcggcagCgcatcaaggagctggaggag	9	3	18	11	3	1	0	1	0	0	0	1	3	1	3	1	6	4	5	1	6	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35287364C>T	ENST00000316637.5	+	8	1284	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	DEF6_ENST00000542066.1_Missense_Mutation_p.R172C	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	427	Glu-rich.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GCAGCGGCAGCGCATCAAGGA	0.637																																																	0													42	47	45					6																	35287364		2203	4297	6500	SO:0001583	missense	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"Pleckstrin homology (PH) domain containing"	2760	protein-coding gene	gene with protein product	"SWAP-70-like adaptor protein of T cells"	610094	"differentially expressed in FDCP (mouse homolog) 6"			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.1279C>T	6.37:g.35287364C>T	ENSP00000319831:p.Arg427Cys		Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R427C	ENST00000316637.5	37	c.1279	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108301	0.77096	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.44482	0.92;2.25	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.82630	2.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.996	T	0.65492	-0.6155	10	0.87932	D	0	-21.9501	14.431	0.67251	0.1471:0.8529:0.0:0.0	.	172;427;427	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	C	172;427	ENSP00000442166:R172C;ENSP00000319831:R427C	ENSP00000319831:R427C	R	+	1	0	DEF6	35395342	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.704000	0.68347	2.861000	0.98227	0.655000	0.94253	CGC	DEF6	-	NULL	ENSG00000023892		0.637	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	-	0	75	0	C	NM_022047		35287364	1	tier1	-	no_errors	ENST00000316637	ensembl	human	known	74_37	missense	17.14	58	12	SNP	1.000	T	T	35287364	C	T	35287364	3	4	87	1	0	0	0	0	1	0	0	0	4395	768	27	1	1309	1	DEF6	6	35287364	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	28196	35287364	135827703	701	23825											
FKBP5	2289	genome.wustl.edu	37	chr6	35565028	35565028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggtatgctgcttaccttGgtccaagatataaaatacat	13	13	7	8	0	0	1	0	0	0	1	1	1	1	1	2	2	4	3	2	2	7	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35565028G>T	ENST00000539068.1	-	6	864	c.662C>A	c.(661-663)cCa>cAa	p.P221Q	FKBP5_ENST00000540787.1_Missense_Mutation_p.P42Q|FKBP5_ENST00000536438.1_Missense_Mutation_p.P221Q|FKBP5_ENST00000357266.4_Missense_Mutation_p.P221Q|FKBP5_ENST00000542713.1_Missense_Mutation_p.P221Q	NM_001145776.1	NP_001139248.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	221	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						TGCTTACCTTGGTCCAAGATA	0.418																																																	0													208	184	192					6																	35565028		2203	4300	6503	SO:0001583	missense	0			U42031	CCDS4808.1, CCDS54996.1	6p21.31	2013-01-10	2001-11-28		ENSG00000096060	ENSG00000096060		"Tetratricopeptide (TTC) repeat domain containing"	3721	protein-coding gene	gene with protein product		602623	"FK506-binding protein 5"			9001212	Standard	NM_004117		Approved	FKBP51, FKBP54, PPIase, P54, Ptg-10	uc003okx.2	Q13451	OTTHUMG00000014576	ENST00000539068.1:c.662C>A	6.37:g.35565028G>T	ENSP00000441205:p.Pro221Gln		F5H7R1|Q59EB8|Q5TGM6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.P221Q	ENST00000539068.1	37	c.662	CCDS4808.1	6	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387358	0.82902	.	.	ENSG00000096060	ENST00000536438;ENST00000357266;ENST00000539068;ENST00000337746;ENST00000540787;ENST00000543400;ENST00000542713;ENST00000373875	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.05	4.16	0.48862	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.066676	0.64402	D	0.000011	D	0.93949	0.8063	M	0.91196	3.185	0.51767	D	0.99993	D;D	0.64830	0.994;0.989	D;P	0.65010	0.931;0.879	D	0.95111	0.8238	10	0.87932	D	0	.	14.0956	0.65019	0.0:0.1503:0.8496:0.0	.	221;221	F5H7R1;Q13451	.;FKBP5_HUMAN	Q	221;221;221;221;42;184;221;219	ENSP00000444810:P221Q;ENSP00000349811:P221Q;ENSP00000441205:P221Q;ENSP00000445412:P42Q;ENSP00000442340:P221Q	ENSP00000338160:P221Q	P	-	2	0	FKBP5	35673006	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.384000	0.90160	1.233000	0.43693	0.561000	0.74099	CCA	FKBP5	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000096060		0.418	FKBP5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP5	HGNC	protein_coding	OTTHUMT00000040309.2		0	75	0	G			35565028	-1			no_errors	ENST00000357266	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	35565028	G	T	35565028	3	4	87	1	0	0	0	0	1	0	0	0	5933	1348	47	3	793	3	FKBP5	6	35565028	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	277664	35565028	135550039	702	23826											
C6orf127	340204	genome.wustl.edu	37	chr6	35754851	35754851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctccagacaattgcgagtCgcactgcgcggagaaggggt	9	7	15	10	4	0	2	0	0	0	2	2	4	1	2	1	3	3	2	1	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:35754851C>T	ENST00000373861.5	+	2	270	c.176C>T	c.(175-177)tCg>tTg	p.S59L	CLPSL1_ENST00000542261.1_Missense_Mutation_p.S58L			A2RUU4	COLL1_HUMAN	colipase-like 1	59					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										AATTGCGAGTCGCACTGCGCG	0.657																																																	0													24	32	30					6																	35754851		2156	4260	6416	SO:0001583	missense	0				CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 127"	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.176C>T	6.37:g.35754851C>T	ENSP00000362968:p.Ser59Leu		A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	smart_Colipase,prints_Colipase	p.S59L	ENST00000373861.5	37	c.176	CCDS43456.1	6	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251255	0.22880	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.34667	1.35;1.35	2.15	0.327	0.15913	.	0.350112	0.15988	U	0.234988	T	0.10035	0.0246	L	0.38175	1.15	0.09310	N	1	B	0.29909	0.261	B	0.29077	0.098	T	0.19192	-1.0313	10	0.62326	D	0.03	.	4.7078	0.12858	0.0:0.6971:0.0:0.3029	.	59	A2RUU4	CF127_HUMAN	L	59;59;58;12	ENSP00000362968:S59L;ENSP00000438478:S58L	ENSP00000362967:S59L	S	+	2	0	C6orf127	35862829	0.000000	0.05858	0.005000	0.12908	0.446000	0.32137	-0.082000	0.11304	0.077000	0.16863	0.460000	0.39030	TCG	CLPSL1	-	smart_Colipase,prints_Colipase	ENSG00000204140		0.657	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLPSL1	HGNC	protein_coding	OTTHUMT00000040317.2	-	0	129	0	C	NM_001010886		35754851	1	tier1	-	no_errors	ENST00000373861	ensembl	human	known	74_37	missense	9.49	124	13	SNP	0.005	T	T	35754851	C	T	35754851	3	4	87	1	0	0	0	0	1	0	0	0	2334	893	31	1	182	1	C6orf127	6	35754851	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	189823	35754851	135360216	703	23827											
PNPLA1	285848	genome.wustl.edu	37	chr6	36260882	36260882	+	Frame_Shift_Del	DEL	C	C	-																															ccggtgtactgtggcctcatCcccccgacttaccgcggtgt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:36260882delC	ENST00000394571.2	+	3	483	c.483delC	c.(481-483)atcfs	p.I161fs	PNPLA1_ENST00000388715.3_Frame_Shift_Del_p.I66fs|PNPLA1_ENST00000312917.5_Frame_Shift_Del_p.I66fs	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	161	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GTGGCCTCATCCCCCCGACTT	0.652																																																	0													120	99	106					6																	36260882		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.483delC	6.37:g.36260882delC	ENSP00000378072:p.Ile161fs		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Frame_Shift_Del	DEL	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.P164fs	ENST00000394571.2	37	c.486	CCDS54997.1	6																																																																																			PNPLA1	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000180316		0.652	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding			0	80	0	C	NM_173676		36260882	1	tier1		no_errors	ENST00000457797	ensembl	human	known	74_37	frame_shift_del	9.86	64	7	DEL	0.985	-	-	36260882	C	-	36260882	7	5	87	1	0	1	0	1	0	0	0	0	12203	845	30	0	493	0	PNPLA1	6	36260882	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	506031	36260882	134854185	704	23828											
PI16	221476	genome.wustl.edu	37	chr6	36926976	36926976	+	Frame_Shift_Del	DEL	G	G	-																															ctacgcacggcagtgcgtgtGgggccacaacaaggagcgcg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:36926976delG	ENST00000373674.3	+	2	555	c.227delG	c.(226-228)tggfs	p.W76fs		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	76	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTGCGTGTGGGGCCACAAC	0.667																																																	0													24	21	22					6																	36926976		2200	4299	6499	SO:0001589	frameshift_variant	0				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.227delG	6.37:g.36926976delG	ENSP00000362778:p.Trp76fs		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Frame_Shift_Del	DEL	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.G77fs	ENST00000373674.3	37	c.227	CCDS34440.1	6																																																																																			PI16	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000164530		0.667	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	HGNC	protein_coding	OTTHUMT00000040380.1		0	90	0	G	NM_153370		36926976	1	tier1		no_errors	ENST00000373674	ensembl	human	known	74_37	frame_shift_del	14.86	63	11	DEL	1.000	-	-	36926976	G	-	36926976	7	5	87	1	0	1	0	1	0	0	0	0	11908	1357	47	0	233	0	PI16	6	36926976	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	666094	36926976	134188091	705	23829											
GLO1	2739	genome.wustl.edu	37	chr6	38652183	38652183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagcttttctggagagcGcccaggctattttttcatct	6	16	10	9	1	3	1	1	0	2	1	3	2	3	1	1	2	2	3	1	2	2	7	rs371576917		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:38652183G>A	ENST00000373365.4	-	3	361	c.275C>T	c.(274-276)gCg>gTg	p.A92V	GLO1_ENST00000470973.1_5'Flank	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TCTGGAGAGCGCCCAGGCTAT	0.303																																																	0								G	VAL/ALA	1,4403	2.1+/-5.4	0,1,2201	68	62	64		275	-4.7	0	6		64	0,8598		0,0,4299	no	missense	GLO1	NM_006708.2	64	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	92/185	38652183	1,13001	2202	4299	6501	SO:0001583	missense	0			L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"glyoxalase domain containing 1"	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.275C>T	6.37:g.38652183G>A	ENSP00000362463:p.Ala92Val		B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1	p.A92V	ENST00000373365.4	37	c.275	CCDS4837.1	6	.	.	.	.	.	.	.	.	.	.	G	8.300	0.819806	0.16678	2.27E-4	0.0	ENSG00000124767	ENST00000373365	T	0.69175	-0.38	6.02	-4.73	0.03259	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.412177	0.29417	N	0.012205	T	0.21550	0.0519	N	0.04373	-0.215	0.09310	N	0.999998	B	0.13145	0.007	B	0.08055	0.003	T	0.07578	-1.0765	10	0.24483	T	0.36	-12.2015	20.0922	0.97824	0.1281:0.0:0.8719:0.0	.	92	Q04760	LGUL_HUMAN	V	92	ENSP00000362463:A92V	ENSP00000362463:A92V	A	-	2	0	GLO1	38760161	0.961000	0.32948	0.001000	0.08648	0.212000	0.24457	1.503000	0.35715	-0.738000	0.04817	-0.345000	0.07892	GCG	GLO1	-	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1	ENSG00000124767		0.303	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLO1	HGNC	protein_coding	OTTHUMT00000040438.2	-	0	82	0	G	NM_006708		38652183	-1	tier1	-	no_errors	ENST00000373365	ensembl	human	known	74_37	missense	32.73	37	18	SNP	0.070	A	A	38652183	G	A	38652183	3	1	87	1	0	0	0	0	1	0	0	0	6475	1087	38	1	295	1	GLO1	6	38652183	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1725207	38652183	132462884	706	23830											
TTBK1	84630	genome.wustl.edu	37	chr6	43221342	43221342	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgccgtagccagccgCgaggcaccttcacgctgagc	7	5	12	17	5	1	1	1	1	0	0	1	2	1	1	5	1	4	3	5	1	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43221342C>T	ENST00000259750.4	+	5	450	c.367C>T	c.(367-369)Cga>Tga	p.R123*	TTBK1_ENST00000304139.5_Nonsense_Mutation_p.R72*	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	123	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TAGCCAGCCGCGAGGCACCTT	0.627																																																	0													45	38	41					6																	43221342		2203	4300	6503	SO:0001587	stop_gained	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.367C>T	6.37:g.43221342C>T	ENSP00000259750:p.Arg123*		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R123*	ENST00000259750.4	37	c.367	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.739272	0.96873	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	.	.	.	4.93	0.732	0.18283	.	0.124768	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.543	0.61686	0.5479:0.4521:0.0:0.0	.	.	.	.	X	72;123;72	.	ENSP00000259750:R123X	R	+	1	2	TTBK1	43329320	0.004000	0.15560	0.104000	0.21259	0.968000	0.65278	0.101000	0.15251	-0.189000	0.10482	0.563000	0.77884	CGA	TTBK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000146216		0.627	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0	49	0	C			43221342	1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	nonsense	15.91	37	7	SNP	0.793	T	T	43221342	C	T	43221342	4	4	87	1	0	0	0	0	0	1	0	0	16725	760	27	1	381	1	TTBK1	6	43221342	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4569159	43221342	127893725	707	23831											
TTBK1	84630	genome.wustl.edu	37	chr6	43250473	43250473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccttgcaggtgttctcCgtggcgcccccatttgaggt	3	12	12	14	2	1	1	0	1	1	0	2	1	1	1	5	3	2	2	5	3	0	3	rs373133592		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43250473C>T	ENST00000259750.4	+	14	2078	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	665					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGTGTTCTCCGTGGCGCCCC	0.597																																																	0													77	85	83					6																	43250473		2203	4300	6503	SO:0001819	synonymous_variant	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1995C>T	6.37:g.43250473C>T			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S665	ENST00000259750.4	37	c.1995	CCDS34455.1	6																																																																																			TTBK1	-	NULL	ENSG00000146216		0.597	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0	38	0	C			43250473	1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.988	T	T	43250473	C	T	43250473	2	4	87	1	0	0	0	0	0	0	0	1	16725	639	23	1		1	TTBK1	6	43250473	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	29131	43250473	127864594	708	23832											
TTBK1	84630	genome.wustl.edu	37	chr6	43251751	43251751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgcagcaggacctggcgcgGctggtgatggagaagaggca	9	4	18	10	3	0	3	0	1	0	2	0	5	0	4	2	6	1	4	2	6	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43251751G>A	ENST00000259750.4	+	14	3356	c.3273G>A	c.(3271-3273)cgG>cgA	p.R1091R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1091					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ACCTGGCGCGGCTGGTGATGG	0.692																																																	0													6	8	7					6																	43251751		2124	4158	6282	SO:0001819	synonymous_variant	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3273G>A	6.37:g.43251751G>A			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1091	ENST00000259750.4	37	c.3273	CCDS34455.1	6																																																																																			TTBK1	-	NULL	ENSG00000146216		0.692	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3		0	20	0	G			43251751	1			no_errors	ENST00000259750	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.994	A	A	43251751	G	A	43251751	2	1	87	1	0	0	0	0	0	0	0	1	16725	1190	42	3		3	TTBK1	6	43251751	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1278	43251751	127863316	709	23833											
DLK2	65989	genome.wustl.edu	37	chr6	43419705	43419705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcacagggtccagccttgCgctcgcagtcacgcccatgg	6	8	12	15	3	2	0	2	0	0	0	4	0	3	0	3	2	2	3	3	2	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43419705C>T	ENST00000357338.3	-	5	1089	c.389G>A	c.(388-390)cGc>cAc	p.R130H	DLK2_ENST00000372488.3_Missense_Mutation_p.R130H|DLK2_ENST00000414245.1_Missense_Mutation_p.R124H|DLK2_ENST00000372485.1_Missense_Mutation_p.R124H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	130					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCAGCCTTGCGCTCGCAGTC	0.597																																																	0													108	77	88					6																	43419705		2203	4300	6503	SO:0001583	missense	0			AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"EGF-like-domain, multiple 9"	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.389G>A	6.37:g.43419705C>T	ENSP00000349893:p.Arg130His		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R130H	ENST00000357338.3	37	c.389	CCDS4897.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.40|16.40	3.111904|3.111904	0.56398|0.56398	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000372496;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87571	.|-2.27;-2.27;-2.27;-2.27	4.45|4.45	3.58|3.58	0.41010|0.41010	.|.	.|0.345003	.|0.27645	.|N	.|0.018442	T|T	0.57902|0.57902	0.2085|0.2085	N|N	0.25485|0.25485	0.75|0.75	0.31385|0.31385	N|N	0.678545|0.678545	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.36696|0.36696	-0.9737|-0.9737	5|10	.|0.12766	.|T	.|0.61	.|.	6.3194|6.3194	0.21208|0.21208	0.3058:0.5997:0.0:0.0945|0.3058:0.5997:0.0:0.0945	.|.	.|130	.|Q6UY11	.|DLK2_HUMAN	T|H	36|124;130;130;130;124	.|ENSP00000361563:R124H;ENSP00000361566:R130H;ENSP00000349893:R130H;ENSP00000398906:R124H	.|ENSP00000349893:R130H	A|R	-|-	1|2	0|0	DLK2|DLK2	43527683|43527683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.704000|1.704000	0.37857|0.37857	1.227000|1.227000	0.43598|0.43598	0.455000|0.455000	0.32223|0.32223	GCA|CGC	DLK2	-	NULL	ENSG00000171462		0.597	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DLK2	HGNC	protein_coding	OTTHUMT00000040618.1	-	0	35	0	C	NM_023932		43419705	-1	tier1	-	no_errors	ENST00000357338	ensembl	human	known	74_37	missense	43.59	22	17	SNP	1.000	T	T	43419705	C	T	43419705	3	4	87	1	0	0	0	0	1	0	0	0	4579	768	27	1	770	1	DLK2	6	43419705	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	167954	43419705	127695362	710	23834											
XPO5	57510	genome.wustl.edu	37	chr6	43538375	43538375	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaaagtcactacatccTctgccagtcgcaaaaggata	14	9	7	11	1	3	1	1	1	2	0	5	2	4	2	2	1	2	1	2	1	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:43538375T>G	ENST00000265351.7	-	5	695	c.485A>C	c.(484-486)gAg>gCg	p.E162A		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	162					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CACTACATCCTCTGCCAGTCG	0.373																																																	0													108	105	106					6																	43538375		1874	4112	5986	SO:0001583	missense	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.485A>C	6.37:g.43538375T>G	ENSP00000265351:p.Glu162Ala		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E162A	ENST00000265351.7	37	c.485	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	T	31	5.098320	0.94197	.	.	ENSG00000124571	ENST00000265351	T	0.57595	0.39	5.78	5.78	0.91487	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75348	-0.3349	10	0.66056	D	0.02	-19.7027	16.3979	0.83621	0.0:0.0:0.0:1.0	.	162	Q9HAV4	XPO5_HUMAN	A	162	ENSP00000265351:E162A	ENSP00000265351:E162A	E	-	2	0	XPO5	43646353	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.997000	0.88414	2.333000	0.79357	0.533000	0.62120	GAG	XPO5	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000124571		0.373	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	-	0	54	0	T	NM_020750		43538375	-1	tier1	-	no_errors	ENST00000265351	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	G	G	43538375	T	G	43538375	3	3	87	1	0	0	0	0	1	0	0	0	17496	1551	54	4	3241	4	XPO5	6	43538375	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	118670	43538375	127576692	711	23835											
AARS2	57505	genome.wustl.edu	37	chr6	44279178	44279178	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctgggtccagccctgccTtggggtcaccatcaaagtag	7	9	13	12	0	3	0	2	0	1	0	4	0	4	0	4	4	2	1	4	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:44279178T>G	ENST00000244571.4	-	3	532	c.530A>C	c.(529-531)aAg>aCg	p.K177T	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCCCTGCCTTGGGGTCACC	0.567																																																	0													85	80	81					6																	44279178		2203	4300	6503	SO:0001583	missense	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"Aminoacyl tRNA synthetases / Class II"	21022	protein-coding gene	gene with protein product	"alanine tRNA ligase 2, mitochondrial"	612035	"alanyl-tRNA synthetase like", "alanyl-tRNA synthetase 2, mitochondrial (putative)"	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.530A>C	6.37:g.44279178T>G	ENSP00000244571:p.Lys177Thr			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	p.K177T	ENST00000244571.4	37	c.530	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	T	11.00	1.508952	0.27036	.	.	ENSG00000124608	ENST00000244571	D	0.82893	-1.66	5.22	2.74	0.32292	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.395361	0.27654	N	0.018408	T	0.60287	0.2257	L	0.39898	1.24	0.09310	N	1	B	0.16166	0.016	B	0.15484	0.013	T	0.55315	-0.8160	10	0.36615	T	0.2	-15.6365	11.8507	0.52410	0.0:0.0:0.5491:0.4509	.	177	Q5JTZ9	SYAM_HUMAN	T	177	ENSP00000244571:K177T	ENSP00000244571:K177T	K	-	2	0	AARS2	44387156	0.993000	0.37304	0.034000	0.17996	0.898000	0.52572	3.270000	0.51600	0.969000	0.38237	0.460000	0.39030	AAG	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc	ENSG00000124608		0.567	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	-	0	74	0	T	NM_020745		44279178	-1	tier1	-	no_errors	ENST00000244571	ensembl	human	known	74_37	missense	18.31	58	13	SNP	0.033	G	G	44279178	T	G	44279178	3	3	87	1	0	0	0	0	1	0	0	0	20	1609	56	4	2507	4	AARS2	6	44279178	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	740803	44279178	126835889	712	23836											
TDRD6	221400	genome.wustl.edu	37	chr6	46657580	46657580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgtattcttagttgaccGaggcaattcggaaaatgtgg	11	12	13	5	2	1	1	0	1	1	0	2	4	1	3	1	4	0	3	1	4	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:46657580G>A	ENST00000316081.6	+	1	1715	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.R572Q|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTAGTTGACCGAGGCAATTCG	0.443																																																	0													165	162	163					6																	46657580		2203	4300	6503	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1715G>A	6.37:g.46657580G>A	ENSP00000346065:p.Arg572Gln		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.R572Q	ENST00000316081.6	37	c.1715	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126698	0.56721	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09255	3.0;3.0	6.02	6.02	0.97574	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.476736	0.24676	N	0.036505	T	0.16171	0.0389	M	0.63428	1.95	0.31520	N	0.662482	D;D	0.76494	0.999;0.999	P;D	0.66497	0.906;0.944	T	0.03296	-1.1051	10	0.41790	T	0.15	-9.5696	10.5405	0.45031	0.1435:0.0:0.8565:0.0	.	572;572	F5H5M3;O60522	.;TDRD6_HUMAN	Q	572	ENSP00000443299:R572Q;ENSP00000346065:R572Q	ENSP00000346065:R572Q	R	+	2	0	TDRD6	46765539	0.761000	0.28439	0.991000	0.47740	0.876000	0.50452	2.640000	0.46579	2.865000	0.98341	0.655000	0.94253	CGA	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000180113		0.443	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0	50	0	G	XM_166443		46657580	1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	21.43	66	18	SNP	0.979	A	A	46657580	G	A	46657580	3	1	87	1	0	0	0	0	1	0	0	0	15781	1058	37	1	1717	1	TDRD6	6	46657580	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2378402	46657580	124457487	713	23837											
DEFB112	245915	genome.wustl.edu	37	chr6	50016318	50016318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatgtatttgtctttgagTacattttttcaagtttcagt	10	20	7	4	0	3	2	2	1	1	1	3	2	3	2	0	0	1	3	0	0	4	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:50016318T>C	ENST00000322246.4	-	1	46	c.47A>G	c.(46-48)tAc>tGc	p.Y16C		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	16					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TGTCTTTGAGTACATTTTTTC	0.328																																																	0													126	124	124					6																	50016318		2203	4298	6501	SO:0001583	missense	0			DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"Defensins, beta"	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.47A>G	6.37:g.50016318T>C	ENSP00000319126:p.Tyr16Cys		Q8NET0	Missense_Mutation	SNP	NULL	p.Y16C	ENST00000322246.4	37	c.47	CCDS34476.1	6	.	.	.	.	.	.	.	.	.	.	T	12.62	1.991871	0.35131	.	.	ENSG00000180872	ENST00000322246	.	.	.	3.53	-5.06	0.02946	.	1.332110	0.05738	N	0.600908	T	0.14227	0.0344	N	0.24115	0.695	0.09310	N	1	D	0.63880	0.993	P	0.49752	0.621	T	0.19778	-1.0295	9	0.87932	D	0	.	8.1879	0.31350	0.1453:0.0:0.5943:0.2603	.	16	Q30KQ8	DB112_HUMAN	C	16	.	ENSP00000319126:Y16C	Y	-	2	0	DEFB112	50124277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.282000	0.02799	-0.887000	0.03961	-0.313000	0.08912	TAC	DEFB112	-	NULL	ENSG00000180872		0.328	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB112	HGNC	protein_coding	OTTHUMT00000359672.1	-	0	86	0	T	NM_001037498		50016318	-1	tier1	-	no_errors	ENST00000322246	ensembl	human	known	74_37	missense	10.11	80	9	SNP	0.000	C	C	50016318	T	C	50016318	3	2	87	1	0	0	0	0	1	0	0	0	4414	1638	57	4	301	4	DEFB112	6	50016318	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3358738	50016318	121098749	714	23838											
HCRTR2	3062	genome.wustl.edu	37	chr6	55145211	55145211	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtatatgccaatagtgcTgcgaatccaattatttataa	13	15	6	7	1	0	0	0	0	0	0	1	1	1	0	2	0	3	2	2	0	9	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:55145211T>C	ENST00000370862.3	+	6	1410	c.1074T>C	c.(1072-1074)gcT>gcC	p.A358A		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	358					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAATAGTGCTGCGAATCCAA	0.398																																																	0													180	173	176					6																	55145211		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1074T>C	6.37:g.55145211T>C			Q5VTM0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.A358	ENST00000370862.3	37	c.1074	CCDS4956.1	6																																																																																			HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000137252		0.398	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0	40	0	T			55145211	1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	silent	15.19	67	12	SNP	1.000	C	C	55145211	T	C	55145211	2	2	87	1	0	0	0	0	0	0	0	1	7029	1567	55	4		4	HCRTR2	6	55145211	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	5128893	55145211	115969856	715	23839											
PHF3	23469	genome.wustl.edu	37	chr6	64394560	64394560	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgttgttgaagaaatgAtagcaacaagaaaagttgaa	19	9	10	3	0	0	6	0	3	0	3	0	6	0	6	0	0	2	4	0	0	8	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:64394560A>T	ENST00000262043.3	+	4	1277	c.937A>T	c.(937-939)Ata>Tta	p.I313L	PHF3_ENST00000393387.1_Missense_Mutation_p.I313L|PHF3_ENST00000509330.1_Missense_Mutation_p.I313L			Q92576	PHF3_HUMAN	PHD finger protein 3	313					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGAAGAAATGATAGCAACAAG	0.358																																					GBM(135;136 1820 29512 34071 46235)												0													64	65	65					6																	64394560		2203	4299	6502	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"Zinc fingers, PHD-type"	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.937A>T	6.37:g.64394560A>T	ENSP00000262043:p.Ile313Leu		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.I313L	ENST00000262043.3	37	c.937	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	A	0.090	-1.168874	0.01660	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.43688	2.29;1.92;2.27;1.93;0.94;2.27	5.64	2.84	0.33178	.	1.038410	0.07695	N	0.939342	T	0.07773	0.0195	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.33904	-0.9850	10	0.23891	T	0.37	1.1548	5.8026	0.18422	0.6798:0.0:0.1628:0.1573	.	313;313	Q92576;D6R9X2	PHF3_HUMAN;.	L	127;225;313;266;313;313	ENSP00000424694:I127L;ENSP00000425227:I225L;ENSP00000262043:I313L;ENSP00000424078:I266L;ENSP00000422841:I313L;ENSP00000377048:I313L	ENSP00000262043:I313L	I	+	1	0	PHF3	64452519	0.060000	0.20803	0.007000	0.13788	0.008000	0.06430	1.447000	0.35101	0.918000	0.36919	0.477000	0.44152	ATA	PHF3	-	NULL	ENSG00000118482		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	-	0	25	0	A			64394560	1	tier1	-	no_errors	ENST00000262043	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.000	T	T	64394560	A	T	64394560	3	4	87	1	0	0	0	0	1	0	0	0	11875	333	12	5	947	5	PHF3	6	64394560	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	9249349	64394560	106720507	716	23840											
EYS	346007	genome.wustl.edu	37	chr6	64430615	64430615	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccaacaaaattggttttAaaaatctcttgagtaacgat	15	14	6	6	1	1	1	0	1	1	0	2	2	1	1	1	1	3	2	1	1	7	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:64430615A>G	ENST00000370621.3	-	44	9901	c.9375T>C	c.(9373-9375)ttT>ttC	p.F3125F	EYS_ENST00000503581.1_Silent_p.F3104F|EYS_ENST00000370616.2_Silent_p.F3125F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	3125	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATTGGTTTTAAAAATCTCTT	0.299																																																	0													76	70	72					6																	64430615		692	1588	2280	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.9375T>C	6.37:g.64430615A>G			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.F3125	ENST00000370621.3	37	c.9375		6																																																																																			EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.299	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	85	0	A	XM_294050		64430615	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.957	G	G	64430615	A	G	64430615	2	3	87	1	0	0	0	0	0	0	0	1	5348	359	13	4		4	EYS	6	64430615	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	36055	64430615	106684452	717	23841											
EYS	346007	genome.wustl.edu	37	chr6	65336092	65336092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggtgatgaagagcattCatttatattaatttcacaaa	16	14	6	5	0	2	3	2	2	0	1	2	3	2	3	0	1	1	1	0	1	5	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:65336092C>T	ENST00000370621.3	-	23	4016	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	EYS_ENST00000503581.1_Missense_Mutation_p.E1164K|EYS_ENST00000370616.2_Missense_Mutation_p.E1164K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1164	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAAGAGCATTCATTTATATTA	0.299																																																	0													41	38	39					6																	65336092		692	1587	2279	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3490G>A	6.37:g.65336092C>T	ENSP00000359655:p.Glu1164Lys		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1164K	ENST00000370621.3	37	c.3490		6	.	.	.	.	.	.	.	.	.	.	C	15.00	2.703747	0.48412	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.94537	-3.45;-3.45;-3.45	4.16	1.39	0.22231	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94823	0.8328	M	0.85099	2.735	0.80722	D	1	B;D	0.61697	0.015;0.99	B;D	0.66351	0.019;0.943	D	0.91900	0.5531	9	0.37606	T	0.19	.	6.8215	0.23859	0.0:0.6905:0.0:0.3095	.	1164;1164	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	1164	ENSP00000424243:E1164K;ENSP00000359655:E1164K;ENSP00000359650:E1164K	ENSP00000359650:E1164K	E	-	1	0	EYS	65392813	1.000000	0.71417	0.183000	0.23137	0.982000	0.71751	1.017000	0.29989	-0.026000	0.13895	0.655000	0.94253	GAA	EYS	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.299	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	46	0	C	XM_294050		65336092	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.955	T	T	65336092	C	T	65336092	3	4	87	1	0	0	0	0	1	0	0	0	5348	835	29	3	5873	3	EYS	6	65336092	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	905477	65336092	105778975	718	23842											
EYS	346007	genome.wustl.edu	37	chr6	65622633	65622633	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatccagatgtacactcAcatctgaaataaaatattaa	17	11	4	9	0	2	2	1	1	1	1	4	2	4	2	2	0	1	1	2	0	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:65622633A>T	ENST00000370621.3	-	16	2911	c.2385T>A	c.(2383-2385)tgT>tgA	p.C795*	EYS_ENST00000503581.1_Nonsense_Mutation_p.C795*|EYS_ENST00000370616.2_Nonsense_Mutation_p.C795*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	795	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATGTACACTCACATCTGaaat	0.328																																																	0													88	67	74					6																	65622633		692	1591	2283	SO:0001587	stop_gained	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2385T>A	6.37:g.65622633A>T	ENSP00000359655:p.Cys795*		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.C795*	ENST00000370621.3	37	c.2385		6	.	.	.	.	.	.	.	.	.	.	A	36	5.877795	0.97055	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.07	3.9	0.45041	.	0.000000	0.36815	N	0.002399	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5248	0.27650	0.8155:0.0:0.1845:0.0	.	.	.	.	X	795	.	ENSP00000359650:C795X	C	-	3	2	EYS	65679354	0.999000	0.42202	0.976000	0.42696	0.098000	0.18820	2.647000	0.46639	0.777000	0.33496	-0.441000	0.05720	TGT	EYS	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.328	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	29	0	A	XM_294050		65622633	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	nonsense	11.11	24	3	SNP	0.969	T	T	65622633	A	T	65622633	4	4	87	1	0	0	0	0	0	1	0	0	5348	157	6	5	7006	5	EYS	6	65622633	Nonsense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	286541	65622633	105492434	719	23843											
RIMS1	22999	genome.wustl.edu	37	chr6	72596814	72596814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgacctgagccacctgaccGaagaggagaggaacattatc	13	5	11	12	2	0	4	0	2	0	2	1	8	0	5	5	2	2	0	5	2	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:72596814G>A	ENST00000521978.1	+	1	88	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	RIMS1_ENST00000517960.1_Missense_Mutation_p.E30K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E30K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E30K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E30K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E30K|RIMS1_ENST00000264839.7_Missense_Mutation_p.E30K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E30K	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	30	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCACCTGACCGAAGAGGAGAG	0.627																																																	0													37	45	42					6																	72596814		2076	4198	6274	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.88G>A	6.37:g.72596814G>A	ENSP00000428417:p.Glu30Lys		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.E30K	ENST00000521978.1	37	c.88	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	g	17.95	3.514473	0.64522	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	4.96	3.17	0.36434	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.272984	0.23076	N	0.052206	T	0.82116	0.4967	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82178	-0.0586	10	0.59425	D	0.04	-6.6415	8.8201	0.35020	0.0786:0.0:0.7712:0.1502	.	30	Q86UR5	RIMS1_HUMAN	K	30	ENSP00000430101:E30K;ENSP00000275037:E30K;ENSP00000264839:E30K;ENSP00000429959:E30K;ENSP00000430408:E30K;ENSP00000430502:E30K;ENSP00000430932:E30K;ENSP00000428417:E30K	ENSP00000264839:E30K	E	+	1	0	RIMS1	72653535	1.000000	0.71417	0.997000	0.53966	0.622000	0.37654	7.463000	0.80869	0.512000	0.28257	-0.226000	0.12346	GAA	RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000079841		0.627	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	131	0	G			72596814	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	12.03	117	16	SNP	1.000	A	A	72596814	G	A	72596814	3	1	87	1	0	0	0	0	1	0	0	0	13412	1059	37	1	90	1	RIMS1	6	72596814	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6974181	72596814	98518253	720	23844											
RIMS1	22999	genome.wustl.edu	37	chr6	72892166	72892166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggattacccagacacgcCggaaaaacgggatgagggca	15	3	13	10	3	0	2	0	1	0	1	0	5	0	5	2	4	2	1	2	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:72892166C>T	ENST00000521978.1	+	6	992	c.992C>T	c.(991-993)cCg>cTg	p.P331L	RIMS1_ENST00000517960.1_Missense_Mutation_p.P331L|RIMS1_ENST00000522291.1_Missense_Mutation_p.P331L|RIMS1_ENST00000348717.5_Missense_Mutation_p.P331L|RIMS1_ENST00000491071.2_Missense_Mutation_p.P331L|RIMS1_ENST00000520567.1_Missense_Mutation_p.P331L|RIMS1_ENST00000264839.7_Missense_Mutation_p.P331L|RIMS1_ENST00000518273.1_Missense_Mutation_p.P331L	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	331					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAGACACGCCGGAAAAACGG	0.587																																																	0													37	45	42					6																	72892166		1954	4145	6099	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.992C>T	6.37:g.72892166C>T	ENSP00000428417:p.Pro331Leu		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.P331L	ENST00000521978.1	37	c.992	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128377	0.06753	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.15139	2.45;2.6;2.54;2.59;2.59;2.61;2.6;2.52	4.64	2.77	0.32553	.	0.105802	0.40728	N	0.001030	T	0.04497	0.0123	N	0.25647	0.755	0.80722	D	1	B	0.23377	0.084	B	0.11329	0.006	T	0.23190	-1.0195	10	0.44086	T	0.13	-0.1842	10.0322	0.42107	0.0:0.7846:0.138:0.0774	.	331	Q86UR5	RIMS1_HUMAN	L	331	ENSP00000430101:P331L;ENSP00000275037:P331L;ENSP00000264839:P331L;ENSP00000429959:P331L;ENSP00000430408:P331L;ENSP00000430502:P331L;ENSP00000430932:P331L;ENSP00000428417:P331L	ENSP00000264839:P331L	P	+	2	0	RIMS1	72948887	0.966000	0.33281	0.027000	0.17364	0.018000	0.09664	2.324000	0.43831	0.336000	0.23639	0.462000	0.41574	CCG	RIMS1	-	NULL	ENSG00000079841		0.587	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	43	0	C			72892166	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.888	T	T	72892166	C	T	72892166	3	4	87	1	0	0	0	0	1	0	0	0	13412	652	23	1	1014	1	RIMS1	6	72892166	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	295352	72892166	98222901	721	23845											
DDX43	55510	genome.wustl.edu	37	chr6	74111695	74111696	+	Frame_Shift_Ins	INS	-	-	A																															agaggaaggtttgaaatggcINSaaaaaacaaagtgggcaggt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:74111695_74111696insA	ENST00000370336.4	+	4	708_709	c.550_551insA	c.(550-552)caafs	p.Q184fs	DDX43_ENST00000539829.1_Frame_Shift_Ins_p.Q184fs	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	184					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTGAAATGGCAAAAAACAAAG	0.371																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"DEAD-boxes"	18677	protein-coding gene	gene with protein product	"cancer/testis antigen 13"	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.556dupA	6.37:g.74111701_74111701dupA	ENSP00000359361:p.Gln184fs		B4E0C8|Q6NXR1	Frame_Shift_Ins	INS	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T186fs	ENST00000370336.4	37	c.550_551	CCDS4977.1	6																																																																																			DDX43	-	NULL	ENSG00000080007		0.371	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX43	HGNC	protein_coding	OTTHUMT00000041219.3		0	47	0	-	NM_018665		74111696	1	tier1		no_errors	ENST00000370336	ensembl	human	known	74_37	frame_shift_ins	33.96	35	18	INS	0.036:0.001	A	A	74111696	-	A	74111695	7	5	87	1	0	1	1	0	0	0	0	0	4372	711	25	0	564	0	DDX43	6	74111695	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1219529	74111695	97003372	722	23846											
MTO1	25821	genome.wustl.edu	37	chr6	74183265	74183265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggaaggttgaagactgGgactccaccccgaattgcca	10	7	14	10	1	0	2	0	1	0	1	1	5	1	4	4	4	1	1	4	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:74183265G>A	ENST00000370300.4	+	4	803	c.713G>A	c.(712-714)gGg>gAg	p.G238E	MTO1_ENST00000370305.1_Missense_Mutation_p.G164E|MTO1_ENST00000498286.1_Missense_Mutation_p.G238E|MTO1_ENST00000415954.2_Missense_Mutation_p.G238E	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	238					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTGAAGACTGGGACTCCACCC	0.463																																																	0													155	140	145					6																	74183265		2203	4300	6503	SO:0001583	missense	0			AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"mitochondrial translation optimization 1 homolog (S. cerevisiae)"			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.713G>A	6.37:g.74183265G>A	ENSP00000359323:p.Gly238Glu		B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA	p.G238E	ENST00000370300.4	37	c.713	CCDS4979.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.274414	0.95459	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000370305;ENST00000370300	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95818	0.8847	10	0.87932	D	0	-18.5747	17.9905	0.89168	0.0:0.0:1.0:0.0	.	238;238;238	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	E	238;238;164;238	ENSP00000402038:G238E;ENSP00000419561:G238E;ENSP00000359328:G164E;ENSP00000359323:G238E	ENSP00000359323:G238E	G	+	2	0	MTO1	74239986	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.967000	0.93402	2.682000	0.91365	0.609000	0.83330	GGG	MTO1	-	pfam_GIDA-rel,tigrfam_GidA	ENSG00000135297		0.463	MTO1-003	KNOWN	basic|CCDS	protein_coding	MTO1	HGNC	protein_coding	OTTHUMT00000041215.2	-	0	130	0	G	NM_012123		74183265	1	tier1	-	no_errors	ENST00000415954	ensembl	human	known	74_37	missense	7.89	70	6	SNP	1.000	A	A	74183265	G	A	74183265	3	1	87	1	0	0	0	0	1	0	0	0	9991	1232	43	3	727	3	MTO1	6	74183265	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	71570	74183265	96931802	723	23847											
COL12A1	1303	genome.wustl.edu	37	chr6	75798824	75798824	+	Frame_Shift_Del	DEL	G	G	-																															aaatactagcaaacctacctGgggggccaggcagcccccga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:75798824delG	ENST00000322507.8	-	64	9317	c.9008delC	c.(9007-9009)ccafs	p.P3003fs	COL12A1_ENST00000511023.1_5'Flank|COL12A1_ENST00000345356.6_Frame_Shift_Del_p.P1839fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.P2927fs|COL12A1_ENST00000483888.2_Frame_Shift_Del_p.P2999fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3003	Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAACCTACCTGGGGGGCCAGG	0.478																																																	0													33	36	35					6																	75798824		1815	4071	5886	SO:0001589	frameshift_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.9008delC	6.37:g.75798824delG	ENSP00000325146:p.Pro3003fs		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P3003fs	ENST00000322507.8	37	c.9008	CCDS43482.1	6																																																																																			COL12A1	-	NULL	ENSG00000111799		0.478	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3		0	48	0	G	NM_004370		75798824	-1	tier1		no_errors	ENST00000322507	ensembl	human	known	74_37	frame_shift_del	26.19	31	11	DEL	1.000	-	-	75798824	G	-	75798824	7	5	87	1	0	1	0	1	0	0	0	0	3676	1348	47	0	195	0	COL12A1	6	75798824	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	1615559	75798824	95316243	724	23848											
COL12A1	1303	genome.wustl.edu	37	chr6	75866088	75866088	+	Frame_Shift_Del	DEL	G	G	-																															aacactgtcgaagtgactgtGgggggcaccttagcaaccat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:75866088delG	ENST00000322507.8	-	15	3444	c.3135delC	c.(3133-3135)cccfs	p.P1045fs	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.P1045fs|COL12A1_ENST00000483888.2_Frame_Shift_Del_p.P1045fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1045	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.T1046fs*7(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGTGACTGTGGGGGGCACCT	0.488																																																	1	Deletion - Frameshift(1)	large_intestine(1)											219	203	208					6																	75866088		1963	4153	6116	SO:0001589	frameshift_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.3135delC	6.37:g.75866088delG	ENSP00000325146:p.Pro1045fs		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T1046fs	ENST00000322507.8	37	c.3135	CCDS43482.1	6																																																																																			COL12A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111799		0.488	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3		0	62	0	G	NM_004370		75866088	-1	tier1		no_errors	ENST00000322507	ensembl	human	known	74_37	frame_shift_del	36.23	44	25	DEL	0.377	-	-	75866088	G	-	75866088	7	5	87	1	0	1	0	1	0	0	0	0	3676	1335	47	0	6264	0	COL12A1	6	75866088	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	67264	75866088	95248979	725	23849											
FILIP1	27145	genome.wustl.edu	37	chr6	76018573	76018573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttttgacataggaatgCgggtgggtgtaggccgctgg	7	11	16	7	2	0	1	0	1	0	0	0	2	0	2	2	5	2	2	2	5	4	5	rs147152005	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:76018573C>T	ENST00000237172.7	-	6	3806	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R1060H|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1159H	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1159										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CATAGGAATGCGGGTGGGTGT	0.507																																																	0								C	HIS/ARG	0,4406		0,0,2203	100	98	99		3476	5.9	1	6	dbSNP_134	99	3,8597	3.0+/-9.4	0,3,4297	yes	missense	FILIP1	NM_015687.2	29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	1159/1214	76018573	3,13003	2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3476G>A	6.37:g.76018573C>T	ENSP00000237172:p.Arg1159His		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.R1159H	ENST00000237172.7	37	c.3476	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818561	0.90790	0.0	3.49E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.34859	1.37;1.34;1.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54191	0.1843	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.988	T	0.51301	-0.8723	10	0.56958	D	0.05	-13.919	20.2896	0.98541	0.0:1.0:0.0:0.0	.	1159;1159;1159	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	H	1159;1159;1060	ENSP00000376728:R1159H;ENSP00000237172:R1159H;ENSP00000359037:R1060H	ENSP00000237172:R1159H	R	-	2	0	FILIP1	76075293	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.484000	0.81180	2.794000	0.96219	0.655000	0.94253	CGC	FILIP1	-	NULL	ENSG00000118407		0.507	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0	98	0	C	XM_029179		76018573	-1	tier1	rs147152005	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	20.55	58	15	SNP	1.000	T	T	76018573	C	T	76018573	3	4	87	1	0	0	0	0	1	0	0	0	5916	768	27	1	169	1	FILIP1	6	76018573	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	152485	76018573	95096494	726	23850											
HMGN3	9324	genome.wustl.edu	37	chr6	79912054	79912054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcctttccagcttcctgcTtttcctccttcttcccttta	2	20	2	17	0	1	0	0	0	1	0	7	0	7	0	6	0	2	2	6	0	1	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:79912054T>C	ENST00000344726.5	-	5	328	c.200A>G	c.(199-201)aAg>aGg	p.K67R	HMGN3_ENST00000275036.7_Missense_Mutation_p.K67R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	67					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		AGCTTCCTGCTTTTCCTCCTT	0.433																																																	0													247	228	235					6																	79912054		2203	4300	6503	SO:0001583	missense	0			L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"High-mobility group / Canonical"	12312	protein-coding gene	gene with protein product		604502	"thyroid hormone receptor interactor 7"	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.200A>G	6.37:g.79912054T>C	ENSP00000341267:p.Lys67Arg		B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.K67R	ENST00000344726.5	37	c.200	CCDS4988.1	6	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604148	0.46423	.	.	ENSG00000118418	ENST00000344726;ENST00000275036	.	.	.	5.36	5.36	0.76844	.	0.160627	0.56097	D	0.000036	T	0.41789	0.1174	.	.	.	0.44323	D	0.997204	P;P	0.41784	0.762;0.59	B;B	0.42245	0.381;0.263	T	0.37384	-0.9708	7	.	.	.	.	14.6915	0.69091	0.0:0.0:0.0:1.0	.	67;67	Q15651;Q15651-2	HMGN3_HUMAN;.	R	67	.	.	K	-	2	0	HMGN3	79968773	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.864000	0.48404	2.251000	0.74343	0.533000	0.62120	AAG	HMGN3	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000118418		0.433	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN3	HGNC	protein_coding	OTTHUMT00000041300.1	-	0	51	0	T	NM_004242		79912054	-1	tier1	-	no_errors	ENST00000344726	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	C	C	79912054	T	C	79912054	3	2	87	1	0	0	0	0	1	0	0	0	7263	1609	56	4	107	4	HMGN3	6	79912054	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3893481	79912054	91203013	727	23851											
IBTK	25998	genome.wustl.edu	37	chr6	82935221	82935221	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacattacaactggaaggCggtggaataattcctaattg	13	11	11	6	1	0	0	0	0	0	0	1	2	1	2	1	5	3	1	1	5	7	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:82935221C>A	ENST00000306270.7	-	6	1347	c.798G>T	c.(796-798)ccG>ccT	p.P266P	IBTK_ENST00000503631.1_Silent_p.P266P|IBTK_ENST00000510291.1_Silent_p.P266P	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	266					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AACTGGAAGGCGGTGGAATAA	0.323																																																	0													73	69	71					6																	82935221		2203	4300	6503	SO:0001819	synonymous_variant	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"BTB/POZ domain containing", "Ankyrin repeat domain containing"	17853	protein-coding gene	gene with protein product		606457	"Bruton agammaglobulinemia tyrosine kinase inhibitor"	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.798G>T	6.37:g.82935221C>A			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.P266	ENST00000306270.7	37	c.798	CCDS34490.1	6																																																																																			IBTK	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000005700		0.323	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	-	0	75	0	C	NM_015525		82935221	-1	tier1	-	no_errors	ENST00000306270	ensembl	human	known	74_37	silent	18.06	59	13	SNP	1.000	A	A	82935221	C	A	82935221	2	1	87	1	0	0	0	0	0	0	0	1	7503	755	27	2		2	IBTK	6	82935221	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3023167	82935221	88179846	728	23852											
ZNF292	23036	genome.wustl.edu	37	chr6	87966811	87966812	+	Frame_Shift_Ins	INS	-	-	T																															aataatggaaagtttgtttaINSttttttgccatcaccggtga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:87966811_87966812insT	ENST00000369577.3	+	8	3507_3508	c.3464_3465insT	c.(3463-3468)tattttfs	p.YF1155fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.YF1150fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1155						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGTTTGTTTATTTTTTGCCAT	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3470dupT	6.37:g.87966817_87966817dupT	ENSP00000358590:p.Tyr1155fs		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1157fs	ENST00000369577.3	37	c.3464_3465	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.411	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0	44	0	0	NM_015021		87966812	1			no_errors	ENST00000369577	ensembl	human	known	74_37	frame_shift_ins	17.07	34	7	INS	0.998:1.000	T	T	87966812	-	T	87966811	7	5	87	1	0	1	1	0	0	0	0	0	17874	449	16	0	3494	0	ZNF292	6	87966811	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	5031590	87966811	83148256	729	23853											
AKIRIN2	55122	genome.wustl.edu	37	chr6	88411208	88411208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgccgaagggggatggCtccattcggagatacttctg	8	9	14	10	4	1	1	0	0	1	1	4	4	2	2	2	4	1	1	2	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:88411208C>A	ENST00000257787.5	-	1	719	c.195G>T	c.(193-195)gaG>gaT	p.E65D	AKIRIN2_ENST00000420494.2_5'UTR	NM_018064.3	NP_060534.1	Q53H80	AKIR2_HUMAN	akirin 2	65					embryo development (GO:0009790)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to lipopolysaccharide (GO:0032496)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)			large_intestine(4)	4						AGGGGGATGGCTCCATTCGGA	0.741																																																	0													5	5	5					6																	88411208		1678	3119	4797	SO:0001583	missense	0			BC000764	CCDS5013.1	6q15	2009-04-17	2008-06-23	2008-06-23	ENSG00000135334	ENSG00000135334			21407	protein-coding gene	gene with protein product		615165	"chromosome 6 open reading frame 166"	C6orf166			Standard	NM_018064		Approved	FLJ10342, dJ486L4.2	uc003pmk.3	Q53H80	OTTHUMG00000015180	ENST00000257787.5:c.195G>T	6.37:g.88411208C>A	ENSP00000257787:p.Glu65Asp		Q9BQB1	Missense_Mutation	SNP	NULL	p.E65D	ENST00000257787.5	37	c.195	CCDS5013.1	6	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739609	0.69304	.	.	ENSG00000135334	ENST00000257787	T	0.50277	0.75	4.66	3.79	0.43588	.	0.486793	0.22294	N	0.061959	T	0.48642	0.1511	L	0.57536	1.79	0.58432	D	0.999998	D	0.67145	0.996	D	0.76071	0.987	T	0.44205	-0.9343	10	0.19147	T	0.46	-6.0519	12.6419	0.56714	0.0:0.9175:0.0:0.0825	.	65	Q53H80	AKIR2_HUMAN	D	65	ENSP00000257787:E65D	ENSP00000257787:E65D	E	-	3	2	AKIRIN2	88467927	1.000000	0.71417	0.990000	0.47175	0.869000	0.49853	1.524000	0.35942	0.952000	0.37798	-0.671000	0.03813	GAG	AKIRIN2	-	NULL	ENSG00000135334		0.741	AKIRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKIRIN2	HGNC	protein_coding	OTTHUMT00000041455.1	-	0	12	0	C	NM_018064		88411208	-1	tier1	-	no_errors	ENST00000257787	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	A	A	88411208	C	A	88411208	3	1	87	1	0	0	0	0	1	0	0	0	462	796	28	3	436	3	AKIRIN2	6	88411208	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	444397	88411208	82703859	730	23854											
RRAGD	58528	genome.wustl.edu	37	chr6	90121614	90121614	+	De_novo_Start_InFrame	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcggaggagtcgggcccGtctccgtagtccgctagccc	4	7	15	15	6	1	0	0	0	1	0	5	2	2	2	4	3	1	2	4	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:90121614G>A	ENST00000359203.3	-	0	175				RRAGD_ENST00000492783.1_5'Flank|RRAGD_ENST00000369415.4_Silent_p.D33D					Ras-related GTP binding D											breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		AGTCGGGCCCGTCTCCGTAGT	0.721																																																	0													21	16	18					6																	90121614		2113	4144	6257			0			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039			19903	protein-coding gene	gene with protein product		608268				11073942	Standard	NM_021244		Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200		6.37:g.90121614G>A				Silent	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase	p.D33	ENST00000359203.3	37	c.99		6																																																																																			RRAGD	-	NULL	ENSG00000025039		0.721	RRAGD-002	PUTATIVE	basic	protein_coding	RRAGD	HGNC	protein_coding	OTTHUMT00000041485.2	-	0	32	0	G	NM_021244		90121614	-1	tier1	-	no_errors	ENST00000369415	ensembl	human	known	74_37	silent	35.00	13	7	SNP	1.000	A	A	90121614	G	A	90121614	1	1	87	1	0	1	0	0	0	0	0	0	13720	1136	40	1		1	RRAGD	6	90121614	De_novo_Start_InFrame	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1710406	90121614	80993453	731	23855											
ANKRD6	22881	genome.wustl.edu	37	chr6	90333705	90333705	+	Frame_Shift_Del	DEL	C	C	-																															ggcatcggtgttcatccccaCccccaccccatgagttcagg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:90333705delC	ENST00000522441.1	+	12	1788	c.1147delC	c.(1147-1149)cccfs	p.P385fs	ANKRD6_ENST00000339746.4_Frame_Shift_Del_p.P385fs|ANKRD6_ENST00000520793.1_Frame_Shift_Del_p.P326fs|ANKRD6_ENST00000369408.5_Frame_Shift_Del_p.P350fs|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000447838.2_Frame_Shift_Del_p.P385fs	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	385	Poly-Pro.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TTCATCCCCACCCCCACCCCA	0.557																																																	0													71	77	75					6																	90333705		2074	4202	6276	SO:0001589	frameshift_variant	0			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"Ankyrin repeat domain containing"	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.1147delC	6.37:g.90333705delC	ENSP00000430985:p.Pro385fs		B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P384fs	ENST00000522441.1	37	c.1147	CCDS56441.1	6																																																																																			ANKRD6	-	NULL	ENSG00000135299		0.557	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1		0	59	0	C			90333705	1	tier1		no_errors	ENST00000339746	ensembl	human	known	74_37	frame_shift_del	31.67	41	19	DEL	0.966	-	-	90333705	C	-	90333705	7	5	87	1	0	1	0	1	0	0	0	0	685	507	18	0	1189	0	ANKRD6	6	90333705	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	212091	90333705	80781362	732	23856											
EPHA7	2045	genome.wustl.edu	37	chr6	93964433	93964433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccacatgactattccatAgctccatacatcactggctg	10	12	5	14	0	1	1	1	1	0	0	4	1	4	1	3	1	2	2	3	1	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:93964433A>G	ENST00000369303.4	-	14	2648	c.2464T>C	c.(2464-2466)Tat>Cat	p.Y822H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACTATTCCATAGCTCCATACA	0.393																																																	0													141	122	129					6																	93964433		2203	4300	6503	SO:0001583	missense	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2464T>C	6.37:g.93964433A>G	ENSP00000358309:p.Tyr822His		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y822H	ENST00000369303.4	37	c.2464	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794736	0.90453	.	.	ENSG00000135333	ENST00000369303	D	0.85955	-2.05	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	M	0.92649	3.33	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.955;0.962;0.978	D	0.94764	0.7939	10	0.87932	D	0	.	15.6344	0.76941	1.0:0.0:0.0:0.0	.	818;817;822	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	822	ENSP00000358309:Y822H	ENSP00000358309:Y822H	Y	-	1	0	EPHA7	94021154	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.105000	0.64084	0.533000	0.62120	TAT	EPHA7	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135333		0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	HGNC	protein_coding	OTTHUMT00000041545.1		0	65	0	A			93964433	-1			no_errors	ENST00000369303	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G	G	93964433	A	G	93964433	3	3	87	1	0	0	0	0	1	0	0	0	5188	420	15	4	548	4	EPHA7	6	93964433	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3630728	93964433	77150634	733	23857											
C6orf167	253714	genome.wustl.edu	37	chr6	97676826	97676826	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcctaagttcagattcTcgacatgctcgcagaagcat	11	11	8	11	2	2	2	1	0	1	2	5	3	3	2	1	0	2	4	1	0	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:97676826T>A	ENST00000275053.4	-	14	2248	c.1983A>T	c.(1981-1983)cgA>cgT	p.R661R	MMS22L_ENST00000369251.2_Silent_p.R621R	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	661					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTCAGATTCTCGACATGCTC	0.378																																																	0													100	98	99					6																	97676826		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1983A>T	6.37:g.97676826T>A			D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Silent	SNP	superfamily_ARM-type_fold	p.R661	ENST00000275053.4	37	c.1983	CCDS5039.1	6																																																																																			MMS22L	-	NULL	ENSG00000146263		0.378	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	42	0	T	NM_198468		97676826	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.997	A	A	97676826	T	A	97676826	2	1	87	1	0	0	0	0	0	0	0	1	2349	1538	54	5		5	C6orf167	6	97676826	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3712393	97676826	73438241	734	23858											
SFRS18	25957	genome.wustl.edu	37	chr6	99848584	99848584	+	Frame_Shift_Del	DEL	T	T	-																															ctagaatcagagcctgaatgTtttttactatctttggtagt																								rs201782750		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:99848584delT	ENST00000369239.5	-	12	2454	c.2250delA	c.(2248-2250)aaafs	p.K750fs	PNISR_ENST00000438806.1_Frame_Shift_Del_p.K750fs	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	750	Ser-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGCCTGAATGTTTTTTACTAT	0.383																																																	0													193	196	195					6																	99848584		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.2250delA	6.37:g.99848584delT	ENSP00000358242:p.Lys750fs		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Frame_Shift_Del	DEL	NULL	p.K750fs	ENST00000369239.5	37	c.2250	CCDS5043.1	6																																																																																			PNISR	-	NULL	ENSG00000132424		0.383	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1		0	71	0	T	NM_032870		99848584	-1	tier1		no_errors	ENST00000369239	ensembl	human	known	74_37	frame_shift_del	19.61	41	10	DEL	1.000	-	-	99848584	T	-	99848584	7	5	87	1	0	1	0	1	0	0	0	0	14219	1722	60	0	171	0	SFRS18	6	99848584	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2171758	99848584	71266483	735	23859											
PRDM13	59336	genome.wustl.edu	37	chr6	100062377	100062377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaacaagcacatccggctGcacgccgagggcaatacgcc	11	4	10	16	4	1	0	1	0	0	0	2	1	2	0	3	2	4	4	3	2	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:100062377G>A	ENST00000369215.4	+	4	2171	c.1866G>A	c.(1864-1866)ctG>ctA	p.L622L		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	622					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACATCCGGCTGCACGCCGAGG	0.637																																																	0													32	36	35					6																	100062377		2062	4206	6268	SO:0001819	synonymous_variant	0			AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1866G>A	6.37:g.100062377G>A			Q5TGC1|Q5TGC2	Silent	SNP	smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.L622	ENST00000369215.4	37	c.1866	CCDS43487.1	6																																																																																			PRDM13	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000112238		0.637	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRDM13	HGNC	protein_coding	OTTHUMT00000041619.2	-	0	52	0	G			100062377	1	tier1	-	no_errors	ENST00000369215	ensembl	human	known	74_37	silent	28.00	36	14	SNP	1.000	A	A	100062377	G	A	100062377	2	1	87	1	0	0	0	0	0	0	0	1	12496	1306	46	3		3	PRDM13	6	100062377	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	213793	100062377	71052690	736	23860											
LIN28B	389421	genome.wustl.edu	37	chr6	105526529	105526529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcaccaccgtttcctcaGgaggctagggcagagatctc	10	8	10	13	1	3	1	2	0	1	1	5	3	4	2	3	3	0	3	3	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:105526529G>T	ENST00000345080.4	+	4	827	c.624G>T	c.(622-624)caG>caT	p.Q208H		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	208					miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CGTTTCCTCAGGAGGCTAGGG	0.547																																																	0													76	69	72					6																	105526529		2203	4300	6503	SO:0001583	missense	0			AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.624G>T	6.37:g.105526529G>T	ENSP00000344401:p.Gln208His		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,superfamily_Znf_CCHC,smart_Cold_shock_prot,smart_Znf_CCHC,pfscan_Znf_CCHC,prints_CSP_DNA-bd	p.Q208H	ENST00000345080.4	37	c.624	CCDS34504.1	6	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711675	0.68730	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.81	4.94	0.65067	.	0.672481	0.16681	N	0.203925	T	0.45316	0.1336	L	0.43152	1.355	0.49687	D	0.99981	P	0.49447	0.924	P	0.48030	0.564	T	0.41052	-0.9530	9	0.38643	T	0.18	-2.1999	14.6272	0.68629	0.0695:0.0:0.9305:0.0	.	208	Q6ZN17	LN28B_HUMAN	H	208	.	ENSP00000344401:Q208H	Q	+	3	2	LIN28B	105633222	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	6.785000	0.75089	1.461000	0.47929	0.655000	0.94253	CAG	LIN28B	-	NULL	ENSG00000187772		0.547	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN28B	HGNC	protein_coding	OTTHUMT00000041646.2	-	0	61	0	G	NM_001004317		105526529	1	tier1	-	no_errors	ENST00000345080	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	T	T	105526529	G	T	105526529	3	4	87	1	0	0	0	0	1	0	0	0	8836	991	35	3	638	3	LIN28B	6	105526529	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5464152	105526529	65588538	737	23861											
FOXO3	2309	genome.wustl.edu	37	chr6	108882886	108882886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcggcggaacgcctggggaAacctgtcctacgcggacctg	7	5	15	14	6	0	0	0	0	0	0	1	3	1	3	4	5	3	0	4	5	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:108882886A>C	ENST00000343882.6	+	2	779	c.475A>C	c.(475-477)Aac>Cac	p.N159H	FOXO3_ENST00000406360.1_Missense_Mutation_p.N159H	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	159				AWGNLSYA -> WGKPVYS (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CGCCTGGGGAAACCTGTCCTA	0.687																																																	0													19	16	17					6																	108882886		2201	4295	6496	SO:0001583	missense	0			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.475A>C	6.37:g.108882886A>C	ENSP00000339527:p.Asn159His		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.N159H	ENST00000343882.6	37	c.475	CCDS5068.1	6	.	.	.	.	.	.	.	.	.	.	A	24.9	4.582723	0.86748	.	.	ENSG00000118689	ENST00000343882;ENST00000406360	D;D	0.91945	-2.94;-2.94	4.68	4.68	0.58851	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.94853	0.8337	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95281	0.8386	10	0.59425	D	0.04	-3.6628	14.1441	0.65339	1.0:0.0:0.0:0.0	.	159	O43524	FOXO3_HUMAN	H	159	ENSP00000339527:N159H;ENSP00000385824:N159H	ENSP00000339527:N159H	N	+	1	0	FOXO3	108989579	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.133000	0.77259	1.740000	0.51718	0.379000	0.24179	AAC	FOXO3	-	smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000118689		0.687	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	HGNC	protein_coding	OTTHUMT00000041722.2	-	0	57	0	A			108882886	1	tier1	-	no_errors	ENST00000343882	ensembl	human	known	74_37	missense	29.09	39	16	SNP	1.000	C	C	108882886	A	C	108882886	3	2	87	1	0	0	0	0	1	0	0	0	6048	14	1	4	477	4	FOXO3	6	108882886	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3356357	108882886	62232181	738	23862											
MICAL1	64780	genome.wustl.edu	37	chr6	109767434	109767434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggggaggcttgggtggaGgctccatttccgggtcaggg	4	9	20	8	2	1	0	1	0	0	0	3	2	3	2	2	8	1	2	2	8	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:109767434G>T	ENST00000358807.3	-	19	2797	c.2486C>A	c.(2485-2487)cCt>cAt	p.P829H	MICAL1_ENST00000358577.3_Missense_Mutation_p.P743H|MICAL1_ENST00000368952.4_Missense_Mutation_p.P848H	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	829					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTTGGGTGGAGGCTCCATTTC	0.682																																																	0													42	48	46					6																	109767434		2203	4300	6503	SO:0001583	missense	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2486C>A	6.37:g.109767434G>T	ENSP00000351664:p.Pro829His		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P848H	ENST00000358807.3	37	c.2543	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564674	0.65651	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.53640	0.62;0.61;0.61	5.56	4.64	0.57946	.	0.475184	0.19760	N	0.106682	T	0.52869	0.1761	M	0.61703	1.905	0.09310	N	1	D;D;D	0.89917	0.988;1.0;0.99	P;D;P	0.69479	0.533;0.964;0.707	T	0.42207	-0.9465	10	0.49607	T	0.09	.	13.2262	0.59916	0.0:0.1739:0.8261:0.0	.	848;743;829	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	H	829;848;743;353;85	ENSP00000351664:P829H;ENSP00000357948:P848H;ENSP00000351385:P743H	ENSP00000335372:P85H	P	-	2	0	MICAL1	109874127	0.150000	0.22732	0.950000	0.38849	0.775000	0.43874	1.750000	0.38329	2.608000	0.88229	0.655000	0.94253	CCT	MICAL1	-	NULL	ENSG00000135596		0.682	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	-	0	176	0	G	NM_022765		109767434	-1	tier1	-	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	24.85	124	41	SNP	0.155	T	T	109767434	G	T	109767434	3	4	87	1	0	0	0	0	1	0	0	0	9607	1000	35	3	745	3	MICAL1	6	109767434	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	884548	109767434	61347633	739	23863											
AKD1	221264	genome.wustl.edu	37	chr6	109830572	109830572	+	Frame_Shift_Del	DEL	T	T	-																															taacccatattcacttgtaaTttttttggcaactgaaaaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:109830572delT	ENST00000424296.2	-	33	4367	c.4291delA	c.(4291-4293)attfs	p.I1431fs	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1431	Adenylate kinase 3.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCACTTGTAATTTTTTTGGCA	0.328																																																	0													91	74	79					6																	109830572		692	1591	2283	SO:0001589	frameshift_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4291delA	6.37:g.109830572delT	ENSP00000410186:p.Ile1431fs		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I1431fs	ENST00000424296.2	37	c.4291	CCDS55048.1	6																																																																																			AK9	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000155085		0.328	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding			0	37	0	T	NM_001145128		109830572	-1	tier1		no_errors	ENST00000424296	ensembl	human	known	74_37	frame_shift_del	25.00	21	7	DEL	0.005	-	-	109830572	T	-	109830572	7	5	87	1	0	1	0	1	0	0	0	0	460	1493	52	0	1480	0	AKD1	6	109830572	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	63138	109830572	61284495	740	23864											
AKD1	221264	genome.wustl.edu	37	chr6	109906340	109906343	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															ttttaccttgcttcttcttcTtctttttttttcttttgtag																								rs200236581|rs55642342|rs78047280		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TTCT	TTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:109906340_109906343delTTCT	ENST00000424296.2	-	19	2173_2176	c.2097_2100delAGAA	c.(2095-2100)aaagaafs	p.KE699fs	AK9_ENST00000368948.2_Frame_Shift_Del_p.KE699fs|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	699					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										CTTCTTCTTCTTCTTTTTTTTTCT	0.24																																																	0																																										SO:0001589	frameshift_variant	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2097_2100delAGAA	6.37:g.109906340_109906343delTTCT	ENSP00000410186:p.Lys699fs		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E700fs	ENST00000424296.2	37	c.2100_2097	CCDS55048.1	6																																																																																			AK9	-	superfamily_P-loop_NTPase	ENSG00000155085		0.24	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding			0	88	0	TTCT	NM_001145128		109906343	-1	tier1		no_errors	ENST00000424296	ensembl	human	known	74_37	frame_shift_del	12.50	63	9	DEL	0.824:0.825:0.777:0.437	-	-	109906343	TTCT	-	109906340	7	5	87	1	0	1	0	1	0	0	0	0	460	1606	56	0	3727	0	AKD1	6	109906340	Frame_Shift_Del	DEL	TTCT	TCGA-L5-A8NM-01A-11D-A37C-09	75768	109906340	61208727	741	23865											
WASF1	8936	genome.wustl.edu	37	chr6	110426610	110426610	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaaaagtaaagaaacCttgtttcaaaatgagaggct	21	8	7	5	0	1	2	1	1	0	2	1	3	1	2	1	1	2	3	1	1	9	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:110426610C>T	ENST00000392589.1	-	8	1549	c.713G>A	c.(712-714)aGa>aAa	p.R238K	WASF1_ENST00000392586.1_Splice_Site_p.R238K|WASF1_ENST00000392588.1_Splice_Site_p.R238K|WASF1_ENST00000359451.2_Splice_Site_p.R238K|WASF1_ENST00000392587.2_Splice_Site_p.R238K	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	238					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTAAAGAAACCTTGTTTCAAA	0.373																																																	0													36	35	35					6																	110426610		2203	4300	6503	SO:0001630	splice_region_variant	0			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"A-kinase anchor proteins"	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.713+1G>A	6.37:g.110426610C>T			E1P5F2|Q5SZK7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R238K	ENST00000392589.1	37	c.713	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853136	0.51270	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.39	5.39	0.77823	.	0.094275	0.64402	D	0.000001	T	0.16642	0.0400	N	0.24115	0.695	0.54753	D	0.999988	B	0.30193	0.272	B	0.18871	0.023	T	0.04281	-1.0963	9	.	.	.	.	19.1608	0.93531	0.0:1.0:0.0:0.0	.	238	Q92558	WASF1_HUMAN	K	238	ENSP00000376365:R238K;ENSP00000376366:R238K;ENSP00000376368:R238K;ENSP00000376367:R238K;ENSP00000352425:R238K	.	R	-	2	0	WASF1	110533303	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.569000	0.73992	2.509000	0.84616	0.591000	0.81541	AGA	WASF1	-	NULL	ENSG00000112290		0.373	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3		0	23	0	C	NM_003931	Missense_Mutation	110426610	-1			no_errors	ENST00000359451	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	T	T	110426610	C	T	110426610	5	4	87	1	0	0	0	0	0	0	1	0	17301	695	24	3	982	3	WASF1	6	110426610	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	520270	110426610	60688457	742	23866											
KIAA1919	91749	genome.wustl.edu	37	chr6	111587126	111587126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggacaaaggagccccaCatatgcaggccttacacttc	11	6	12	12	0	0	0	0	0	0	0	1	2	0	2	3	5	3	1	3	5	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:111587126C>T	ENST00000368847.4	+	4	714	c.361C>T	c.(361-363)Cat>Tat	p.H121Y		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	121					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGAGCCCCACATATGCAGGC	0.453																																																	0													85	89	88					6																	111587126		2203	4300	6503	SO:0001583	missense	0			BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.361C>T	6.37:g.111587126C>T	ENSP00000357840:p.His121Tyr		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.H121Y	ENST00000368847.4	37	c.361	CCDS5090.1	6	.	.	.	.	.	.	.	.	.	.	c	13.40	2.227218	0.39399	.	.	ENSG00000173214	ENST00000368847	T	0.57595	0.39	5.85	4.99	0.66335	Major facilitator superfamily domain, general substrate transporter (1);	0.045307	0.85682	N	0.000000	T	0.28599	0.0708	L	0.43152	1.355	0.48830	D	0.999719	B	0.26002	0.139	B	0.32393	0.145	T	0.17198	-1.0377	10	0.09843	T	0.71	-4.1702	15.2375	0.73441	0.0:0.9328:0.0:0.0672	.	121	Q5TF39	NAGT1_HUMAN	Y	121	ENSP00000357840:H121Y	ENSP00000357840:H121Y	H	+	1	0	KIAA1919	111693819	0.999000	0.42202	0.645000	0.29479	0.987000	0.75469	4.277000	0.58939	1.500000	0.48636	-0.131000	0.14894	CAT	KIAA1919	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000173214		0.453	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1919	HGNC	protein_coding	OTTHUMT00000041827.1	-	0	36	0	C	NM_153369		111587126	1	tier1	-	no_errors	ENST00000368847	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T	T	111587126	C	T	111587126	3	4	87	1	0	0	0	0	1	0	0	0	8289	478	17	3	375	3	KIAA1919	6	111587126	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1160516	111587126	59527941	743	23867											
C6orf170	221322	genome.wustl.edu	37	chr6	121563364	121563364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctgtaatttttttgcatAtcgattgaatataaatgtca	13	18	5	5	1	1	1	1	1	0	0	2	2	1	1	1	0	2	2	1	0	7	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:121563364A>G	ENST00000398212.2	-	18	2189	c.2140T>C	c.(2140-2142)Tat>Cat	p.Y714H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.Y714H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	714					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TTTTTTGCATATCGATTGAAT	0.338																																																	0													96	90	92					6																	121563364		1831	4091	5922	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2140T>C	6.37:g.121563364A>G	ENSP00000381270:p.Tyr714His		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.Y714H	ENST00000398212.2	37	c.2140	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627226	0.66901	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.22336	1.96;1.96	5.0	5.0	0.66597	.	0.217066	0.38778	N	0.001573	T	0.34483	0.0899	M	0.64997	1.995	0.39326	D	0.965321	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.971	T	0.18935	-1.0321	10	0.72032	D	0.01	.	14.6496	0.68786	1.0:0.0:0.0:0.0	.	714;714	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	H	714	ENSP00000275159:Y714H;ENSP00000381270:Y714H	ENSP00000275159:Y714H	Y	-	1	0	C6orf170	121605063	1.000000	0.71417	0.936000	0.37596	0.802000	0.45316	8.161000	0.89655	2.016000	0.59253	0.477000	0.44152	TAT	TBC1D32	-	NULL	ENSG00000146350		0.338	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	38	0	A	NM_152730		121563364	-1	tier1	-	no_errors	ENST00000275159	ensembl	human	putative	74_37	missense	20.00	36	9	SNP	0.995	G	G	121563364	A	G	121563364	3	3	87	1	0	0	0	0	1	0	0	0	2351	449	16	4	1693	4	C6orf170	6	121563364	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	9976238	121563364	49551703	744	23868											
SLC2A12	154091	genome.wustl.edu	37	chr6	134327992	134327992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagatgaggagattgatgcCccagttcatgctagaagtta	12	10	12	7	1	1	5	1	2	0	3	1	7	1	5	2	1	2	3	2	1	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:134327992C>T	ENST00000275230.5	-	3	1680	c.1525G>A	c.(1525-1527)Ggc>Agc	p.G509S		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	509					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AGATTGATGCCCCAGTTCATG	0.473																																					Melanoma(122;1663 1672 14489 35294 41228)												0													138	113	122					6																	134327992		2203	4300	6503	SO:0001583	missense	0			AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"Solute carriers"	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1525G>A	6.37:g.134327992C>T	ENSP00000275230:p.Gly509Ser		B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt	p.G509S	ENST00000275230.5	37	c.1525	CCDS5169.1	6	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704750	0.68615	.	.	ENSG00000146411	ENST00000275230	T	0.73897	-0.79	5.89	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.111716	0.64402	D	0.000009	T	0.55545	0.1927	L	0.41632	1.29	0.50632	D	0.99988	B	0.15473	0.013	B	0.16289	0.015	T	0.56529	-0.7964	10	0.49607	T	0.09	-9.6659	14.4699	0.67509	0.0:0.9301:0.0:0.0699	.	509	Q8TD20	GTR12_HUMAN	S	509	ENSP00000275230:G509S	ENSP00000275230:G509S	G	-	1	0	SLC2A12	134369685	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.864000	0.62990	2.793000	0.96121	0.655000	0.94253	GGC	SLC2A12	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146411		0.473	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A12	HGNC	protein_coding	OTTHUMT00000042302.1	-	0	49	0	C			134327992	-1	tier1	-	no_errors	ENST00000275230	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	T	T	134327992	C	T	134327992	3	4	87	1	0	0	0	0	1	0	0	0	14586	623	22	3	340	3	SLC2A12	6	134327992	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	12764628	134327992	36787075	745	23869											
OLIG3	167826	genome.wustl.edu	37	chr6	137814989	137814989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgtagggcatgacttcgcGcagcccgtccatggctaggt	6	8	14	13	5	0	1	0	1	0	0	2	1	1	1	2	3	1	4	2	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:137814989G>A	ENST00000367734.2	-	1	542	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	107	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ATGACTTCGCGCAGCCCGTCC	0.607																																																	0													123	92	103					6																	137814989		2203	4300	6503	SO:0001583	missense	0			AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"Basic helix-loop-helix proteins"	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.319C>T	6.37:g.137814989G>A	ENSP00000356708:p.Arg107Cys		Q8N8Q0	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R107C	ENST00000367734.2	37	c.319	CCDS5186.1	6	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679568	0.68042	.	.	ENSG00000177468	ENST00000367734	D	0.98747	-5.11	5.54	4.68	0.58851	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	D	0.000001	D	0.99348	0.9771	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99032	1.0821	10	0.87932	D	0	-14.2958	9.207	0.37296	0.0734:0.0:0.7816:0.1449	.	107	Q7RTU3	OLIG3_HUMAN	C	107	ENSP00000356708:R107C	ENSP00000356708:R107C	R	-	1	0	OLIG3	137856682	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.741000	0.55090	1.334000	0.45468	0.591000	0.81541	CGC	OLIG3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000177468		0.607	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG3	HGNC	protein_coding	OTTHUMT00000042405.1	-	0	44	0	G	NM_175747		137814989	-1	tier1	-	no_errors	ENST00000367734	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A	A	137814989	G	A	137814989	3	1	87	1	0	0	0	0	1	0	0	0	10901	1087	38	1	503	1	OLIG3	6	137814989	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3486997	137814989	33300078	746	23870											
CCDC28A	25901	genome.wustl.edu	37	chr6	139094843	139094843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagccaagagcgacactggGggagcaggaaaaggcggggc	12	1	20	8	2	0	1	0	0	0	1	0	5	0	4	1	7	3	1	1	7	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:139094843G>T	ENST00000332797.6	+	1	187	c.32G>T	c.(31-33)gGg>gTg	p.G11V		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	11										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GCGACACTGGGGGAGCAGGAA	0.602																																																	0													84	99	94					6																	139094843		2203	4300	6503	SO:0001583	missense	0			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"chromosome 6 open reading frame 80"	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.32G>T	6.37:g.139094843G>T	ENSP00000332716:p.Gly11Val		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	NULL	p.G11V	ENST00000332797.6	37	c.32	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	G	6.565	0.472634	0.12461	.	.	ENSG00000024862	ENST00000332797	T	0.27402	1.67	5.2	-10.4	0.00318	.	3.764050	0.01445	N	0.015264	T	0.01976	0.0062	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	10	0.33940	T	0.23	.	1.3082	0.02092	0.2873:0.2284:0.3268:0.1575	.	11	Q8IWP9	CC28A_HUMAN	V	11	ENSP00000332716:G11V	ENSP00000332716:G11V	G	+	2	0	CCDC28A	139136536	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.718000	0.00384	-3.248000	0.00205	-0.150000	0.13652	GGG	CCDC28A	-	NULL	ENSG00000024862		0.602	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	HGNC	protein_coding	OTTHUMT00000042444.1	-	0	158	0	G	NM_015439		139094843	1	tier1	-	no_errors	ENST00000332797	ensembl	human	known	74_37	missense	12.74	136	20	SNP	0.000	T	T	139094843	G	T	139094843	3	4	87	1	0	0	0	0	1	0	0	0	2809	1232	43	3	34	3	CCDC28A	6	139094843	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1279854	139094843	32020224	747	23871											
UTRN	7402	genome.wustl.edu	37	chr6	144806531	144806531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctttaggaggtctggtCttgttggattgaactgcttc	6	16	12	7	0	2	1	0	1	2	0	3	3	2	3	0	4	3	3	0	4	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:144806531C>A	ENST00000367545.3	+	27	3698	c.3698C>A	c.(3697-3699)tCt>tAt	p.S1233Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1233					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGGTCTGGTCTTGTTGGATT	0.383																																																	0													255	251	252					6																	144806531		2203	4300	6503	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"utrophin (homologous to dystrophin)"	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3698C>A	6.37:g.144806531C>A	ENSP00000356515:p.Ser1233Tyr		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.S1233Y	ENST00000367545.3	37	c.3698	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598626	0.87055	.	.	ENSG00000152818	ENST00000367545	T	0.19938	2.11	5.03	5.03	0.67393	.	0.000000	0.48286	D	0.000198	T	0.37019	0.0988	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.15037	-1.0451	10	0.62326	D	0.03	.	18.7115	0.91658	0.0:1.0:0.0:0.0	.	1233	P46939	UTRO_HUMAN	Y	1233	ENSP00000356515:S1233Y	ENSP00000356515:S1233Y	S	+	2	0	UTRN	144848224	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	7.697000	0.84279	2.480000	0.83734	0.655000	0.94253	TCT	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.383	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	-	0	113	0	C			144806531	1	tier1	-	no_errors	ENST00000367545	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A	A	144806531	C	A	144806531	3	1	87	1	0	0	0	0	1	0	0	0	17152	913	32	3	3804	3	UTRN	6	144806531	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5711688	144806531	26308536	748	23872											
GRM1	2911	genome.wustl.edu	37	chr6	146720324	146720324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaattctgattagtgtgCaactaaccctggtggtaacc	10	12	8	11	0	2	1	1	1	1	0	2	1	2	1	3	2	4	2	3	2	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:146720324C>A	ENST00000282753.1	+	7	2384	c.2149C>A	c.(2149-2151)Caa>Aaa	p.Q717K	GRM1_ENST00000361719.2_Missense_Mutation_p.Q717K|GRM1_ENST00000392299.2_Missense_Mutation_p.Q717K|GRM1_ENST00000355289.4_Missense_Mutation_p.Q717K|GRM1_ENST00000507907.1_Missense_Mutation_p.Q717K|GRM1_ENST00000492807.2_Missense_Mutation_p.Q717K			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	717					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GATTAGTGTGCAACTAACCCT	0.507																																																	0													117	111	113					6																	146720324		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4593	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 85"	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2149C>A	6.37:g.146720324C>A	ENSP00000282753:p.Gln717Lys		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.Q717K	ENST00000282753.1	37	c.2149	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127168	0.77549	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95796	0.8632	M	0.86343	2.81	0.80722	D	1	D;D;D	0.69078	0.991;0.997;0.984	P;D;P	0.78314	0.885;0.991;0.729	D	0.96025	0.9012	10	0.87932	D	0	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	717;717;717	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	K	717	ENSP00000354896:Q717K;ENSP00000376119:Q717K;ENSP00000424095:Q717K;ENSP00000282753:Q717K;ENSP00000347437:Q717K;ENSP00000425599:Q717K	ENSP00000282753:Q717K	Q	+	1	0	GRM1	146762017	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.818000	0.86416	2.604000	0.88044	0.585000	0.79938	CAA	GRM1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000152822		0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0	63	0	C	NM_000838		146720324	1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	40.48	25	17	SNP	1.000	A	A	146720324	C	A	146720324	3	1	87	1	0	0	0	0	1	0	0	0	6823	711	25	3	2175	3	GRM1	6	146720324	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1913793	146720324	24394743	749	23873											
SASH1	23328	genome.wustl.edu	37	chr6	148711274	148711274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtccaccccttcaggacgGttcactgggaaacatcgatg	9	10	10	12	2	2	0	2	0	0	0	4	3	3	2	3	3	1	1	3	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:148711274G>A	ENST00000367467.3	+	2	636	c.161G>A	c.(160-162)gGt>gAt	p.G54D	SASH1_ENST00000367469.1_Missense_Mutation_p.G9D	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	54					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTTCAGGACGGTTCACTGGGA	0.532																																																	0													155	147	150					6																	148711274		2203	4300	6503	SO:0001583	missense	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.161G>A	6.37:g.148711274G>A	ENSP00000356437:p.Gly54Asp		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.G54D	ENST00000367467.3	37	c.161	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	g	20.3	3.967491	0.74131	.	.	ENSG00000111961	ENST00000367469;ENST00000367467;ENST00000392284	T	0.13420	2.59	4.55	4.55	0.56014	.	0.056558	0.64402	D	0.000001	T	0.18676	0.0448	L	0.34521	1.04	0.58432	D	0.999993	D	0.89917	1.0	D	0.67103	0.949	T	0.03852	-1.0998	10	0.87932	D	0	-13.9447	17.6938	0.88276	0.0:0.0:1.0:0.0	.	54	O94885	SASH1_HUMAN	D	9;54;8	ENSP00000356437:G54D	ENSP00000356437:G54D	G	+	2	0	SASH1	148752967	1.000000	0.71417	0.734000	0.30879	0.502000	0.33828	9.319000	0.96338	2.235000	0.73313	0.591000	0.81541	GGT	SASH1	-	NULL	ENSG00000111961		0.532	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	-	0	66	0	G	NM_015278		148711274	1	tier1	-	no_errors	ENST00000367467	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	A	A	148711274	G	A	148711274	3	1	87	1	0	0	0	0	1	0	0	0	13893	1261	44	3	167	3	SASH1	6	148711274	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1990950	148711274	22403793	750	23874											
SASH1	23328	genome.wustl.edu	37	chr6	148865156	148865156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtggagcctggtgctgaGcaagacgtgcctaccgaggt	9	7	15	10	2	0	2	0	1	0	1	0	4	0	3	3	3	5	2	3	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:148865156G>A	ENST00000367467.3	+	18	3025	c.2550G>A	c.(2548-2550)gaG>gaA	p.E850E		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	850					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTGGTGCTGAGCAAGACGTGC	0.627																																																	0													132	141	138					6																	148865156		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"SAM and SH3 domain containing", "Sterile alpha motif (SAM) domain containing"	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2550G>A	6.37:g.148865156G>A			Q5TGN5|Q8TAI0|Q9H7R7	Silent	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E850	ENST00000367467.3	37	c.2550	CCDS5212.1	6																																																																																			SASH1	-	NULL	ENSG00000111961		0.627	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1		0	40	0	G	NM_015278		148865156	1			no_errors	ENST00000367467	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.000	A	A	148865156	G	A	148865156	2	1	87	1	0	0	0	0	0	0	0	1	13893	962	34	3		3	SASH1	6	148865156	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	153882	148865156	22249911	751	23875											
LRP11	84918	genome.wustl.edu	37	chr6	150141774	150141774	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcaccagtcgtagtcGgcatgcaaccatgagaagca	11	9	10	11	2	1	1	1	1	0	1	3	2	1	1	2	1	3	5	2	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:150141774G>A	ENST00000239367.2	-	7	1419	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	LRP11_ENST00000546019.1_Nonsense_Mutation_p.R217*	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	472						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AGTCGTAGTCGGCATGCAACC	0.468																																																	0													100	93	95					6																	150141774		2203	4300	6503	SO:0001587	stop_gained	0			AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"Low density lipoprotein receptors"	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.1414C>T	6.37:g.150141774G>A	ENSP00000239367:p.Arg472*		Q5VYC0|Q96SN6	Nonsense_Mutation	SNP	pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_PKD_dom,superfamily_LDrepeatLR_classA_rpt,smart_MANSC_N,smart_PKD/Chitinase_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_PKD_dom	p.R472*	ENST00000239367.2	37	c.1414	CCDS5220.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.594553	0.97692	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	.	.	.	5.68	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.0894	14.4067	0.67088	0.0:0.0:0.5239:0.4761	.	.	.	.	X	472;217	.	ENSP00000239367:R472X	R	-	1	2	LRP11	150183467	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	4.156000	0.58138	0.712000	0.32039	-0.319000	0.08680	CGA	LRP11	-	NULL	ENSG00000120256		0.468	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP11	HGNC	protein_coding	OTTHUMT00000042664.1	-	0	54	0	G	NM_032832		150141774	-1	tier1	-	no_errors	ENST00000239367	ensembl	human	known	74_37	nonsense	19.44	29	7	SNP	1.000	A	A	150141774	G	A	150141774	4	1	87	1	0	0	0	0	0	1	0	0	8988	1124	39	1	92	1	LRP11	6	150141774	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1276618	150141774	20973293	752	23876											
SYNE1	23345	genome.wustl.edu	37	chr6	152826487	152826487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaatgaaaggcaaccccGcttctccaactcttcccaaa	13	8	5	15	1	2	2	0	2	2	0	4	2	3	2	4	1	2	2	4	1	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:152826487G>A	ENST00000367255.5	-	9	1228	c.627C>T	c.(625-627)agC>agT	p.S209S	SYNE1_ENST00000367248.3_Silent_p.S216S|SYNE1_ENST00000367253.4_Silent_p.S209S|SYNE1_ENST00000423061.1_Silent_p.S216S|SYNE1_ENST00000466159.2_Silent_p.S209S|SYNE1_ENST00000265368.4_Silent_p.S209S|SYNE1_ENST00000448038.1_Silent_p.S216S|SYNE1_ENST00000413186.2_Silent_p.S209S|SYNE1_ENST00000341594.5_Silent_p.S209S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	209	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGCAACCCCGCTTCTCCAAC	0.403										HNSCC(10;0.0054)																																							0													120	107	112					6																	152826487		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.627C>T	6.37:g.152826487G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S209	ENST00000367255.5	37	c.627	CCDS5236.2	6																																																																																			SYNE1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000131018		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	36	0	G	NM_182961		152826487	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	41.38	17	12	SNP	0.157	A	A	152826487	G	A	152826487	2	1	87	1	0	0	0	0	0	0	0	1	15492	1078	38	1		1	SYNE1	6	152826487	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2684713	152826487	18288580	753	23877											
OPRM1	4988	genome.wustl.edu	37	chr6	154411172	154411172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaccatgagtgttgatcgaTacattgcagtctgccaccct	9	11	9	12	1	1	2	0	2	1	0	2	3	1	2	3	0	3	3	3	0	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:154411172T>C	ENST00000330432.7	+	2	739	c.502T>C	c.(502-504)Tac>Cac	p.Y168H	OPRM1_ENST00000524163.1_Missense_Mutation_p.Y168H|OPRM1_ENST00000522236.1_Missense_Mutation_p.Y68H|OPRM1_ENST00000229768.5_Missense_Mutation_p.Y168H|OPRM1_ENST00000435918.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000520708.1_Missense_Mutation_p.Y68H|OPRM1_ENST00000518759.1_Missense_Mutation_p.Y87H|OPRM1_ENST00000414028.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000360422.4_Missense_Mutation_p.Y168H|OPRM1_ENST00000452687.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000419506.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000434900.2_Missense_Mutation_p.Y261H|OPRM1_ENST00000428397.2_Missense_Mutation_p.Y168H|OPRM1_ENST00000522555.1_Missense_Mutation_p.Y68H|OPRM1_ENST00000337049.4_Missense_Mutation_p.Y168H	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	168					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGTTGATCGATACATTGCAGT	0.448																																																	0													249	241	244					6																	154411172		2150	4278	6428	SO:0001583	missense	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.502T>C	6.37:g.154411172T>C	ENSP00000328264:p.Tyr168His		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.Y261H	ENST00000330432.7	37	c.781	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279822	0.80692	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95118	0.8418	H	0.95679	3.705	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.96495	0.9367	10	0.87932	D	0	.	16.1596	0.81693	0.0:0.0:0.0:1.0	.	168;168;168;168;261;87;168;68;168;168;168;168;168	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;P35372-6;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	H	261;68;87;168;168;168;168;168;168;168;168;168;168;68;68	ENSP00000394624:Y261H;ENSP00000430876:Y68H;ENSP00000430260:Y87H;ENSP00000328264:Y168H;ENSP00000353598:Y168H;ENSP00000411903:Y168H;ENSP00000410497:Y168H;ENSP00000229768:Y168H;ENSP00000403549:Y168H;ENSP00000430097:Y168H;ENSP00000399359:Y168H;ENSP00000413752:Y168H;ENSP00000338381:Y168H;ENSP00000429719:Y68H;ENSP00000429373:Y68H	ENSP00000229768:Y168H	Y	+	1	0	OPRM1	154452865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.216000	0.71823	0.533000	0.62120	TAC	OPRM1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000112038		0.448	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	-	0	54	0	T	NM_000914		154411172	1	tier1	-	no_errors	ENST00000434900	ensembl	human	known	74_37	missense	8.57	64	6	SNP	1.000	C	C	154411172	T	C	154411172	3	2	87	1	0	0	0	0	1	0	0	0	10926	1406	49	4	842	4	OPRM1	6	154411172	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1584685	154411172	16703895	754	23878											
TFB1M	51106	genome.wustl.edu	37	chr6	155581483	155581483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaccagcttgaatggctGctctatcttgggctgtatca	7	14	9	11	0	3	1	1	1	2	0	4	1	4	1	2	2	2	5	2	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:155581483G>T	ENST00000367166.4	-	6	773	c.718C>A	c.(718-720)Cag>Aag	p.Q240K		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TTGAATGGCTGCTCTATCTTG	0.458																																																	0													152	125	134					6																	155581483		2203	4300	6503	SO:0001583	missense	0			AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"dimethyladenosine transferase 1, mitochondrial"	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.718C>A	6.37:g.155581483G>T	ENSP00000356134:p.Gln240Lys		Q05DR0|Q9Y384	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N	p.Q240K	ENST00000367166.4	37	c.718	CCDS5248.1	6	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273665	0.80580	.	.	ENSG00000029639	ENST00000367166	T	0.24908	1.83	5.55	5.55	0.83447	.	0.114261	0.64402	D	0.000009	T	0.14399	0.0348	N	0.21282	0.65	0.80722	D	1	P	0.43169	0.8	P	0.50270	0.636	T	0.01159	-1.1433	10	0.05620	T	0.96	-20.5272	19.5192	0.95179	0.0:0.0:1.0:0.0	.	240	Q8WVM0	TFB1M_HUMAN	K	240	ENSP00000356134:Q240K	ENSP00000356134:Q240K	Q	-	1	0	TFB1M	155623175	1.000000	0.71417	0.990000	0.47175	0.791000	0.44710	9.476000	0.97823	2.611000	0.88343	0.655000	0.94253	CAG	TFB1M	-	pfam_rRNA_Ade_methylase_transferase	ENSG00000029639		0.458	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFB1M	HGNC	protein_coding	OTTHUMT00000042809.1	-	0	73	0	G			155581483	-1	tier1	-	no_errors	ENST00000367166	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	155581483	G	T	155581483	3	4	87	1	0	0	0	0	1	0	0	0	15840	1328	46	3	330	3	TFB1M	6	155581483	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1170311	155581483	15533584	755	23879											
ARID1B	57492	genome.wustl.edu	37	chr6	157527517	157527517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaggaagacgaggaggatGaggaggaagacagcgagaag	17	1	19	4	3	0	4	0	1	0	3	0	12	0	9	0	5	1	0	0	5	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:157527517G>A	ENST00000350026.5	+	19	5204	c.5203G>A	c.(5203-5205)Gag>Aag	p.E1735K	ARID1B_ENST00000275248.4_Missense_Mutation_p.E1730K|ARID1B_ENST00000367148.1_Missense_Mutation_p.E1788K|ARID1B_ENST00000346085.5_Missense_Mutation_p.E1748K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1735					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGAGGAGGATGAGGAGGAAGA	0.552																																																	0													112	112	112					6																	157527517		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5203G>A	6.37:g.157527517G>A	ENSP00000055163:p.Glu1735Lys		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E1788K	ENST00000350026.5	37	c.5362	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987381	0.35036	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02280	4.7;4.69;4.73;4.74;4.36	5.16	5.16	0.70880	Armadillo-like helical (1);	0.570303	0.19615	N	0.110022	T	0.01156	0.0038	L	0.39020	1.185	0.54753	D	0.999985	B;P;P	0.35272	0.361;0.493;0.493	B;B;B	0.31101	0.058;0.124;0.124	T	0.66056	-0.6018	10	0.20046	T	0.44	.	18.6564	0.91455	0.0:0.0:1.0:0.0	.	1735;1748;1730	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1748;1735;1788;1730;1257	ENSP00000344546:E1748K;ENSP00000055163:E1735K;ENSP00000356116:E1788K;ENSP00000275248:E1730K;ENSP00000412835:E1257K	ENSP00000275248:E1730K	E	+	1	0	ARID1B	157569209	1.000000	0.71417	0.094000	0.20943	0.370000	0.29829	6.726000	0.74758	2.394000	0.81467	0.467000	0.42956	GAG	ARID1B	-	NULL	ENSG00000049618		0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	42	0	G	NM_020732		157527517	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.987	A	A	157527517	G	A	157527517	3	1	87	1	0	0	0	0	1	0	0	0	914	1291	45	3	5320	3	ARID1B	6	157527517	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1946034	157527517	13587550	756	23880											
FNDC1	84624	genome.wustl.edu	37	chr6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgtccagcgttctccGcgacagaagctctgtgcacc	6	8	10	17	4	2	1	0	0	2	1	5	2	4	1	5	0	3	3	5	0	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R682H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCGTTCTCCGCGACAGAAGC	0.716																																																	1	Substitution - Missense(1)	large_intestine(1)											15	18	17					6																	159653589		1954	4109	6063	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2045G>A	6.37:g.159653589G>A	ENSP00000297267:p.Arg682His		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R682H	ENST00000297267.9	37	c.2045	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251546	0.39797	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.09445	2.98;3.86	4.87	0.863	0.19062	.	0.929336	0.09006	N	0.862294	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	B;B	0.13594	0.008;0.004	B;B	0.13407	0.009;0.002	T	0.45308	-0.9270	10	0.46703	T	0.11	-2.4532	4.2237	0.10570	0.2908:0.1701:0.5391:0.0	.	619;682	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	682;619	ENSP00000297267:R682H;ENSP00000342460:R619H	ENSP00000297267:R682H	R	+	2	0	FNDC1	159573579	0.029000	0.19370	0.000000	0.03702	0.070000	0.16714	2.496000	0.45346	0.488000	0.27723	-0.122000	0.15005	CGC	FNDC1	-	NULL	ENSG00000164694		0.716	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0	32	0	G	NM_032532		159653589	1			no_errors	ENST00000297267	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.000	A	A	159653589	G	A	159653589	3	1	87	1	0	0	0	0	1	0	0	0	5990	1087	38	1	2087	1	FNDC1	6	159653589	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2126072	159653589	11461478	757	23881											
TCP1	6950	genome.wustl.edu	37	chr6	160202059	160202059	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatacttcagacacataTcatcaattccaccagtggtt	15	11	4	11	0	3	1	3	0	0	1	4	1	4	1	2	1	1	1	2	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:160202059T>A	ENST00000321394.7	-	8	1161	c.881A>T	c.(880-882)gAt>gTt	p.D294V	TCP1_ENST00000392168.2_Missense_Mutation_p.D139V|TCP1_ENST00000420894.2_Missense_Mutation_p.D294V|TCP1_ENST00000544255.1_Missense_Mutation_p.D70V|SNORA20_ENST00000384662.1_RNA	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	294					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGACACATATCATCAATTCC	0.408																																																	0													152	150	151					6																	160202059		2203	4300	6503	SO:0001583	missense	0			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"Heat Shock Proteins / Chaperonins"	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.881A>T	6.37:g.160202059T>A	ENSP00000317334:p.Asp294Val		E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha	p.D294V	ENST00000321394.7	37	c.881	CCDS5269.1	6	.	.	.	.	.	.	.	.	.	.	T	30	5.053296	0.93793	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.89026	0.6598	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.982;0.994	D	0.93042	0.6458	10	0.87932	D	0	-28.9536	16.3275	0.82990	0.0:0.0:0.0:1.0	.	294;294	E7ERF2;P17987	.;TCPA_HUMAN	V	294;70;294;139;92	ENSP00000317334:D294V;ENSP00000439447:D70V;ENSP00000390159:D294V;ENSP00000376008:D139V;ENSP00000441345:D92V	ENSP00000317334:D294V	D	-	2	0	TCP1	160122049	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.472000	0.80996	2.266000	0.75297	0.528000	0.53228	GAT	TCP1	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_alpha	ENSG00000120438		0.408	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP1	HGNC	protein_coding	OTTHUMT00000042917.2	-	0	61	0	T	NM_030752		160202059	-1	tier1	-	no_errors	ENST00000321394	ensembl	human	known	74_37	missense	10.34	52	6	SNP	1.000	A	A	160202059	T	A	160202059	3	1	87	1	0	0	0	0	1	0	0	0	15756	1435	50	5	809	5	TCP1	6	160202059	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	548470	160202059	10913008	758	23882											
PLG	5340	genome.wustl.edu	37	chr6	161132169	161132170	+	Frame_Shift_Ins	INS	-	-	A																															agagggacgatgtccaaaacINSaaaaaatggcatcacctgtc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:161132169_161132170insA	ENST00000308192.9	+	4	416_417	c.353_354insA	c.(352-357)acaaaafs	p.TK118fs	PLG_ENST00000366924.2_Frame_Shift_Ins_p.TK118fs|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	118	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGTCCAAAACAAAAAATGGCA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.359dupA	6.37:g.161132175_161132175dupA	ENSP00000308938:p.Thr118fs		Q15146|Q5TEH4|Q6PA00	Frame_Shift_Ins	INS	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1	p.N120fs	ENST00000308192.9	37	c.353_354	CCDS5279.1	6																																																																																			PLG	-	pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000122194		0.436	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2		0	259	0	-	NM_000301		161132170	1	tier1		no_errors	ENST00000308192	ensembl	human	known	74_37	frame_shift_ins	11.11	240	30	INS	0.028:0.033	A	A	161132170	-	A	161132169	7	5	87	1	0	1	1	0	0	0	0	0	12125	478	17	0	367	0	PLG	6	161132169	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	930110	161132169	9982898	759	23883											
PACRG	135138	genome.wustl.edu	37	chr6	163149330	163149330	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagatgccgaagaggacCaagctgctggcacaacagcc	14	3	12	12	1	0	2	0	0	0	2	0	5	0	3	3	2	5	3	3	2	4	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:163149330C>A	ENST00000337019.3	+	2	287	c.63C>A	c.(61-63)acC>acA	p.T21T	PACRG_ENST00000366888.2_Silent_p.T21T|PACRG_ENST00000366889.2_Silent_p.T21T|PACRG_ENST00000542669.1_3'UTR|PARK2_ENST00000366896.1_5'Flank|PARK2_ENST00000366898.1_5'Flank|PARK2_ENST00000366897.1_5'Flank|PARK2_ENST00000366892.1_5'Flank|PARK2_ENST00000338468.3_5'Flank|PARK2_ENST00000366894.1_5'Flank	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	21					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CGAAGAGGACCAAGCTGCTGG	0.478																																																	0													111	122	118					6																	163149330		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.63C>A	6.37:g.163149330C>A			E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Silent	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.T21	ENST00000337019.3	37	c.63	CCDS5284.1	6																																																																																			PACRG	-	NULL	ENSG00000112530		0.478	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	-	0	45	0	C	NM_152410		163149330	1	tier1	-	no_errors	ENST00000337019	ensembl	human	known	74_37	silent	13.51	32	5	SNP	1.000	A	A	163149330	C	A	163149330	2	1	87	1	0	0	0	0	0	0	0	1	11409	581	21	3		3	PACRG	6	163149330	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2017161	163149330	7965737	760	23884											
MLLT4	4301	genome.wustl.edu	37	chr6	168347574	168347574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaccgttccagccccaaCgtagcaagtaagagtgacac	13	6	9	13	2	1	2	1	1	0	1	2	3	2	2	4	0	3	4	4	0	4	3	rs367706314		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:168347574C>T	ENST00000447894.2	+	26	3525	c.3525C>T	c.(3523-3525)aaC>aaT	p.N1175N	MLLT4_ENST00000392108.3_Silent_p.N1175N|MLLT4_ENST00000392112.1_Silent_p.N1158N|MLLT4_ENST00000351017.4_Silent_p.N1182N|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000366806.2_Silent_p.N1175N|MLLT4_ENST00000400822.3_Silent_p.N1174N|MLLT4_ENST00000344191.4_Silent_p.N1175N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1175					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCAGCCCCAACGTAGCAAGTA	0.418			T	MLL	AL																																			Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0								C	,	0,4406		0,0,2203	90	88	88		3525,3474	-2.9	0.9	6		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	MLLT4	NM_001040000.2,NM_001207008.1	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	1175/1652,1158/1744	168347574	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3525C>T	6.37:g.168347574C>T			O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Silent	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.N1175	ENST00000447894.2	37	c.3525		6																																																																																			MLLT4	-	NULL	ENSG00000130396		0.418	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	-	0	63	0	C	NM_005936		168347574	1	tier1	-	no_errors	ENST00000366806	ensembl	human	known	74_37	silent	7.04	66	5	SNP	0.944	T	T	168347574	C	T	168347574	2	4	87	1	0	0	0	0	0	0	0	1	9667	535	19	1		1	MLLT4	6	168347574	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5198244	168347574	2767493	761	23885											
THBS2	7058	genome.wustl.edu	37	chr6	169634947	169634947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgctcccggatcccaccGgcacaggtgacagtgcaggc	7	5	14	15	3	0	1	0	1	0	0	2	2	2	2	3	4	2	3	3	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:169634947G>A	ENST00000366787.3	-	11	1782	c.1533C>T	c.(1531-1533)gcC>gcT	p.A511A	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	511	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGATCCCACCGGCACAGGTGA	0.682																																					Esophageal Squamous(91;219 1934 18562 44706)												0													41	43	42					6																	169634947		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1533C>T	6.37:g.169634947G>A			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.A511	ENST00000366787.3	37	c.1533	CCDS34574.1	6																																																																																			THBS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000186340		0.682	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0	71	0	G	NM_003247		169634947	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	silent	14.47	65	11	SNP	0.252	A	A	169634947	G	A	169634947	2	1	87	1	0	0	0	0	0	0	0	1	15901	1103	39	1		1	THBS2	6	169634947	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1287373	169634947	1480120	762	23886											
THBS2	7058	genome.wustl.edu	37	chr6	169639773	169639773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgggcaggtgatttggtgGcaaatggttttaaatttcta	9	14	14	4	1	1	1	0	1	1	0	1	1	1	1	0	6	0	3	0	6	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr6:169639773G>A	ENST00000366787.3	-	8	1299	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	350	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGATTTGGTGGCAAATGGTTT	0.527																																					Esophageal Squamous(91;219 1934 18562 44706)												0													94	72	79					6																	169639773		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1050C>T	6.37:g.169639773G>A			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.C350	ENST00000366787.3	37	c.1050	CCDS34574.1	6																																																																																			THBS2	-	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	ENSG00000186340		0.527	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0	34	0	G	NM_003247		169639773	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	A	A	169639773	G	A	169639773	2	1	87	1	0	0	0	0	0	0	0	1	15901	1195	42	3		3	THBS2	6	169639773	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4826	169639773	1475294	763	23887											
FAM20C	56975	genome.wustl.edu	37	chr7	208908	208908	+	Frame_Shift_Del	DEL	G	G	-																															cttcctgcagccatgaagtcGgggggcacgcagctgaagct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:208908delG	ENST00000313766.5	+	3	1026	c.795delG	c.(793-795)tcgfs	p.S265fs		NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	265					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCATGAAGTCGGGGGGCACGC	0.602																																																	0													41	49	46					7																	208908		2071	4191	6262	SO:0001589	frameshift_variant	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"dentin matrix protein 4"	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.795delG	7.37:g.208908delG	ENSP00000322323:p.Ser265fs		A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Frame_Shift_Del	DEL	pfam_DUF1193	p.G267fs	ENST00000313766.5	37	c.795	CCDS47522.1	7																																																																																			FAM20C	-	NULL	ENSG00000177706		0.602	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20C	HGNC	protein_coding	OTTHUMT00000322476.2		0	54	0	G	NM_020223		208908	1	tier1		no_errors	ENST00000313766	ensembl	human	known	74_37	frame_shift_del	17.95	32	7	DEL	0.007	-	-	208908	G	-	208908	7	5	87	1	0	1	0	1	0	0	0	0	5558	1103	39	0	805	0	FAM20C	7	208908	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09		208908	158929755	764	23888											
HEATR2	54919	genome.wustl.edu	37	chr7	769437	769437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacgggaagtccgtggacGacgtgctttcccattttgct	7	11	12	11	4	0	0	0	0	0	0	2	3	2	2	2	2	3	3	2	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:769437G>A	ENST00000297440.6	+	2	753	c.733G>A	c.(733-735)Gac>Aac	p.D245N	PRKAR1B_ENST00000403562.1_5'Flank|PRKAR1B_ENST00000537384.1_5'Flank|HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.D245N|PRKAR1B_ENST00000488474.1_5'Flank	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	245						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTCCGTGGACGACGTGCTTTC	0.572																																																	0													148	121	130					7																	769437		2203	4300	6503	SO:0001583	missense	0			AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.733G>A	7.37:g.769437G>A	ENSP00000297440:p.Asp245Asn		Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D245N	ENST00000297440.6	37	c.733	CCDS34580.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.059682|5.059682	0.93846|0.93846	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147|ENST00000440747	T;T|.	0.18338|.	2.22;2.22|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.73560|0.73560	0.3602|0.3602	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	B|.	0.42882|.	0.401|.	T|T	0.72077|0.72077	-0.4399|-0.4399	10|5	0.44086|.	T|.	0.13|.	-31.0429|-31.0429	18.7191|18.7191	0.91686|0.91686	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	245|.	Q86Y56|.	HEAT2_HUMAN|.	N|Q	245|46	ENSP00000297440:D245N;ENSP00000321451:D245N|.	ENSP00000297440:D245N|.	D|R	+|+	1|2	0|0	HEATR2|HEATR2	735963|735963	1.000000|1.000000	0.71417|0.71417	0.921000|0.921000	0.36526|0.36526	0.739000|0.739000	0.42172|0.42172	8.852000|8.852000	0.92215|0.92215	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GAC|CGA	HEATR2	-	superfamily_ARM-type_fold	ENSG00000164818		0.572	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR2	HGNC	protein_coding	OTTHUMT00000322542.1		0	71	0	G	NM_017802		769437	1			no_errors	ENST00000297440	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	769437	G	A	769437	3	1	87	1	0	0	0	0	1	0	0	0	7055	1058	37	1	739	1	HEATR2	7	769437	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	560529	769437	158369226	765	23889											
INTS1	26173	genome.wustl.edu	37	chr7	1533447	1533447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcagcaagctccatggcgtCcgcaggcccgagcgggagct	7	5	15	14	4	1	0	1	0	0	0	3	2	3	1	3	3	4	4	3	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:1533447C>T	ENST00000404767.3	-	15	2096	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	INTS1_ENST00000389470.4_Missense_Mutation_p.D799N	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	671					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCATGGCGTCCGCAGGCCCG	0.667																																																	0													13	19	17					7																	1533447		2036	4163	6199	SO:0001583	missense	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2011G>A	7.37:g.1533447C>T	ENSP00000385722:p.Asp671Asn		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.D799N	ENST00000404767.3	37	c.2395	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083925	0.76642	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.71817	-0.6;-0.6	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	L	0.38175	1.15	0.80722	D	1	B;P	0.41710	0.264;0.76	B;P	0.48304	0.253;0.573	T	0.72204	-0.4361	10	0.45353	T	0.12	.	18.3788	0.90443	0.0:1.0:0.0:0.0	.	799;671	A4D213;Q8N201	.;INT1_HUMAN	N	671;799	ENSP00000385722:D671N;ENSP00000374121:D799N	ENSP00000374121:D799N	D	-	1	0	INTS1	1499973	1.000000	0.71417	0.471000	0.27229	0.425000	0.31504	7.758000	0.85224	2.324000	0.78689	0.561000	0.74099	GAC	INTS1	-	NULL	ENSG00000164880		0.667	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0	98	0	C			1533447	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	15.66	70	13	SNP	0.997	T	T	1533447	C	T	1533447	3	4	87	1	0	0	0	0	1	0	0	0	7802	855	30	3	4697	3	INTS1	7	1533447	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	764010	1533447	157605216	766	23890											
OCM	654231	genome.wustl.edu	37	chr7	5922245	5922245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagcgggtacctggatgaAgaagagcttaagtaagcttt	13	9	13	6	1	0	4	0	1	0	3	0	5	0	5	1	2	4	4	1	2	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:5922245A>G	ENST00000242104.5	+	2	275	c.183A>G	c.(181-183)gaA>gaG	p.E61E	OCM_ENST00000416608.1_Silent_p.E61E	NM_001097622.1	NP_001091091.1	P0CE72	ONCO_HUMAN	oncomodulin	61	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		ACCTGGATGAAGAAGAGCTTA	0.512																																																	0													128	103	111					7																	5922245		2203	4300	6503	SO:0001819	synonymous_variant	0			BC069468	CCDS43548.1	7p22.1	2013-01-10						"EF-hand domain containing"	8105	protein-coding gene	gene with protein product	"oncomodulin 1"	164795				1559707, 8354278	Standard	NM_001097622		Approved	OCM1	uc003spe.4	P0CE72		ENST00000242104.5:c.183A>G	7.37:g.5922245A>G			B9EJH7|P32930|Q6ISI5|Q75MW0	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.E61	ENST00000242104.5	37	c.183	CCDS43548.1	7																																																																																			OCM	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000122543		0.512	OCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCM	HGNC	protein_coding	OTTHUMT00000340372.1	-	0	118	0	A	NM_001097622		5922245	1	tier1	-	no_errors	ENST00000242104	ensembl	human	known	74_37	silent	13.89	93	15	SNP	1.000	G	G	5922245	A	G	5922245	2	3	87	1	0	0	0	0	0	0	0	1	10860	69	3	4		4	OCM	7	5922245	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4388798	5922245	153216418	767	23891											
USP42	84132	genome.wustl.edu	37	chr7	6185158	6185158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccttctaggatgtgaaataCcctgagtatcttgatattcg	10	15	8	8	1	2	3	0	3	2	0	4	4	3	4	2	1	1	1	2	1	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:6185158C>T	ENST00000306177.5	+	10	1160	c.1002C>T	c.(1000-1002)taC>taT	p.Y334Y		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	334	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ATGTGAAATACCCTGAGTATC	0.448																																																	0													170	157	161					7																	6185158		1906	4118	6024	SO:0001819	synonymous_variant	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1002C>T	7.37:g.6185158C>T			A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.Y334	ENST00000306177.5	37	c.1002	CCDS47535.1	7																																																																																			USP42	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000106346		0.448	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3		0	70	0	C	XM_166526		6185158	1			no_errors	ENST00000306177	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.469	T	T	6185158	C	T	6185158	2	4	87	1	0	0	0	0	0	0	0	1	17122	518	18	3		3	USP42	7	6185158	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	262913	6185158	152953505	768	23892											
ZNF12	7559	genome.wustl.edu	37	chr7	6731613	6731614	+	Frame_Shift_Del	DEL	TG	TG	-																															cattcatagggcttctccccTgtgtgtgttctctgatgcac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:6731613_6731614delTG	ENST00000405858.1	-	5	1500_1501	c.959_960delCA	c.(958-960)acafs	p.T320fs	ZNF12_ENST00000342651.5_Frame_Shift_Del_p.T282fs|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Frame_Shift_Del_p.T246fs|AC073343.2_ENST00000577401.1_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	320					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GCTTCTCCCCTGTGTGTGTTCT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"Zinc fingers, C2H2-type", "-"	12902	protein-coding gene	gene with protein product		194536	"zinc finger protein 325"	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.959_960delCA	7.37:g.6731619_6731620delTG	ENSP00000385939:p.Thr320fs		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T320fs	ENST00000405858.1	37	c.960_959	CCDS47538.1	7																																																																																			ZNF12	-	pfscan_Znf_C2H2	ENSG00000164631		0.46	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2		0	67	0	TG	NM_016265		6731614	-1	tier1		no_errors	ENST00000405858	ensembl	human	known	74_37	frame_shift_del	11.59	61	8	DEL	0.989:0.997	-	-	6731614	TG	-	6731613	7	5	87	1	0	1	0	1	0	0	0	0	17766	1567	55	0	1137	0	ZNF12	7	6731613	Frame_Shift_Del	DEL	TG	TCGA-L5-A8NM-01A-11D-A37C-09	546455	6731613	152407050	769	23893											
RSPH10B	728194	genome.wustl.edu	37	chr7	6831535	6831535	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttttttaaaatgcaaaagCccaagatcaagaagtctgta	17	12	6	6	0	2	2	1	0	1	2	2	2	2	2	1	0	2	2	1	0	8	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:6831535C>A	ENST00000403107.1	+	18	2527	c.2140C>A	c.(2140-2142)Ccc>Acc	p.P714T	RSPH10B2_ENST00000297186.3_Splice_Site_p.P714T|RSPH10B2_ENST00000433859.2_Splice_Site_p.P714T|RSPH10B2_ENST00000404077.1_Splice_Site_p.P714T|CCZ1B_ENST00000597208.1_5'Flank|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000359718.3_3'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	714										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						AATGCAAAAGCCCAAGATCAA	0.284																																																	0													1	1	1					7																	6831535		209	597	806	SO:0001630	splice_region_variant	0				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.2140-1C>A	7.37:g.6831535C>A			A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.P714T	ENST00000403107.1	37	c.2140	CCDS43552.1	7	.	.	.	.	.	.	.	.	.	.	C	4.711	0.132198	0.08981	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859;ENST00000540958	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	2.94	0.0534	0.14306	.	2.047000	0.02643	U	0.105521	T	0.39835	0.1093	L	0.47716	1.5	0.26707	N	0.971055	B	0.17038	0.02	B	0.12156	0.007	T	0.11397	-1.0589	9	.	.	.	.	4.6404	0.12545	0.4091:0.3812:0.2097:0.0	.	714	B2RC85	R10B2_HUMAN	T	714;714;714;714;573	ENSP00000384766:P714T;ENSP00000386102:P714T;ENSP00000297186:P714T;ENSP00000416710:P714T	.	P	+	1	0	RSPH10B2	6798060	0.798000	0.28890	0.607000	0.28956	0.121000	0.20230	0.005000	0.13129	0.107000	0.17824	0.177000	0.17058	CCC	RSPH10B2	-	NULL	ENSG00000169402		0.284	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	-	0	23	0	C	NM_001099697	Missense_Mutation	6831535	1	tier1	-	no_errors	ENST00000297186	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.347	A	A	6831535	C	A	6831535	5	1	87	1	0	0	0	0	0	0	1	0	13748	753	26	3	4895	3	RSPH10B	7	6831535	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	99922	6831535	152307128	770	23894											
SP8	221833	genome.wustl.edu	37	chr7	20824432	20824432	+	Frame_Shift_Del	DEL	C	C	-																															gagctgaggagcgcggggagCcccccagcggcgccgaaggc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:20824432delC	ENST00000361443.4	-	3	1187	c.950delG	c.(949-951)ggcfs	p.G317fs	SP8_ENST00000418710.2_Frame_Shift_Del_p.G335fs	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	317					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGGGAGCCCCCCAGCGG	0.766																																																	0													2	2	2					7																	20824432		1216	2693	3909	SO:0001589	frameshift_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.950delG	7.37:g.20824432delC	ENSP00000354482:p.Gly317fs		Q7Z615|Q7Z616|Q96MJ1	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.G335fs	ENST00000361443.4	37	c.1004	CCDS5372.1	7																																																																																			SP8	-	NULL	ENSG00000164651		0.766	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2		0	15	0	C			20824432	-1	tier1		no_errors	ENST00000418710	ensembl	human	known	74_37	frame_shift_del	21.05	15	4	DEL	1.000	-	-	20824432	C	-	20824432	7	5	87	1	0	1	0	1	0	0	0	0	15015	739	26	0	526	0	SP8	7	20824432	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	13992897	20824432	138314231	771	23895											
DNAH11	8701	genome.wustl.edu	37	chr7	21646139	21646140	+	Frame_Shift_Ins	INS	-	-	A																															cggaagtcactcttataaggINSaaaaaatgtattttgtttga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:21646139_21646140insA	ENST00000409508.3	+	19	3775_3776	c.3744_3745insA	c.(3745-3747)aaafs	p.K1249fs	DNAH11_ENST00000328843.6_Frame_Shift_Ins_p.K1249fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1249	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTTATAAGGAAAAAATGTAT	0.337									Kartagener syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3750dupA	7.37:g.21646145_21646145dupA	ENSP00000475939:p.Lys1249fs		Q9UJ82	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C1250fs	ENST00000409508.3	37	c.3744_3745		7																																																																																			DNAH11	-	NULL	ENSG00000105877		0.337	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6		0	119	0	0	NM_003777		21646140	1			no_errors	ENST00000328843	ensembl	human	known	74_37	frame_shift_ins	7.89	105	9	INS	1.000:1.000	A	A	21646140	-	A	21646139	7	5	87	1	0	1	1	0	0	0	0	0	4613	1165	41	0	3818	0	DNAH11	7	21646139	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	821707	21646139	137492524	772	23896											
CDCA7L	55536	genome.wustl.edu	37	chr7	21947897	21947897	+	Frame_Shift_Del	DEL	T	T	-																															tttctttctttcaagaattgTttttttctcattctgtaagc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:21947897delT	ENST00000406877.3	-	4	811	c.532delA	c.(532-534)acafs	p.T178fs	CDCA7L_ENST00000373934.4_Frame_Shift_Del_p.T132fs|CDCA7L_ENST00000356195.5_Frame_Shift_Del_p.T144fs|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	178					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCAAGAATTGTTTTTTTCTCA	0.443																																																	0													87	80	82					7																	21947897		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.532delA	7.37:g.21947897delT	ENSP00000383986:p.Thr178fs		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Del	DEL	pfam_Znf-4CXXC_R1	p.T178fs	ENST00000406877.3	37	c.532	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.443	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0	44	0	T	NM_018719		21947897	-1	tier1		no_errors	ENST00000406877	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	0.000	-	-	21947897	T	-	21947897	7	5	87	1	0	1	0	1	0	0	0	0	3098	1725	60	0	860	0	CDCA7L	7	21947897	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	301758	21947897	137190766	773	23897											
IL6	3569	genome.wustl.edu	37	chr7	22767197	22767197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccactcacctcttcagaaCgaattgacaaacaaattcgg	15	8	6	12	2	3	2	2	1	1	1	4	3	3	2	2	1	3	0	2	1	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:22767197C>T	ENST00000404625.1	+	3	613	c.154C>T	c.(154-156)Cga>Tga	p.R52*	AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Nonsense_Mutation_p.R52*|IL6_ENST00000420258.2_Nonsense_Mutation_p.R106*|IL6_ENST00000406575.1_Nonsense_Mutation_p.R52*|IL6_ENST00000401651.1_Intron|IL6_ENST00000401630.3_Nonsense_Mutation_p.R29*|IL6_ENST00000407492.1_Intron			P05231	IL6_HUMAN	interleukin 6	52					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	CTCTTCAGAACGAATTGACAA	0.582																																					Esophageal Squamous(47;342 1214 13936 33513)												0													111	105	107					7																	22767197		2203	4300	6503	SO:0001587	stop_gained	0			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"Interleukins and interleukin receptors", "Interferons"	6018	protein-coding gene	gene with protein product	"interferon, beta 2"	147620	"interleukin 6 (interferon, beta 2)"	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.154C>T	7.37:g.22767197C>T	ENSP00000385675:p.Arg52*		Q9UCU2|Q9UCU3|Q9UCU4	Nonsense_Mutation	SNP	pfam_IL-6/IL-23/GCSF/MGF,superfamily_4_helix_cytokine-like_core,smart_IL-6/IL-23/GCSF/MGF,prints_IL-6,prints_IL-6/IL-23/GCSF/MGF	p.R106*	ENST00000404625.1	37	c.316	CCDS5375.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393997	0.83011	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	.	.	.	5.73	-1.91	0.07641	.	1.022770	0.07765	N	0.950804	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-3.5473	9.2494	0.37547	0.4257:0.4867:0.0:0.0876	.	.	.	.	X	52;52;52;106;29;52	.	ENSP00000258743:R52X	R	+	1	2	IL6	22733722	0.001000	0.12720	0.000000	0.03702	0.048000	0.14542	0.465000	0.22004	0.005000	0.14708	0.555000	0.69702	CGA	IL6	-	superfamily_4_helix_cytokine-like_core	ENSG00000136244		0.582	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6	HGNC	protein_coding	OTTHUMT00000250225.2	-	0	67	0	C	NM_000600		22767197	1	tier1	-	no_errors	ENST00000420258	ensembl	human	known	74_37	nonsense	31.67	41	19	SNP	0.000	T	T	22767197	C	T	22767197	4	4	87	1	0	0	0	0	0	1	0	0	7728	528	19	1	160	1	IL6	7	22767197	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	819300	22767197	136371466	774	23898											
MPP6	51678	genome.wustl.edu	37	chr7	24718836	24718836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatggaagcagatattaaaGctggaaagtatttggaacat	17	10	11	3	0	0	2	0	0	0	2	0	5	0	5	0	3	3	3	0	3	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:24718836G>T	ENST00000222644.5	+	10	1451	c.1201G>T	c.(1201-1203)Gct>Tct	p.A401S	MPP6_ENST00000396475.2_Missense_Mutation_p.A401S|MPP6_ENST00000409761.1_Missense_Mutation_p.A289S			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGATATTAAAGCTGGAAAGTA	0.378																																																	0													125	119	121					7																	24718836		2203	4300	6503	SO:0001583	missense	0			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.1201G>T	7.37:g.24718836G>T	ENSP00000222644:p.Ala401Ser		B2RAF0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A401S	ENST00000222644.5	37	c.1201	CCDS5388.1	7	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275953	0.59649	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.16897	2.31;2.31;2.31	5.97	5.97	0.96955	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.53938	D	0.000054	T	0.19248	0.0462	L	0.37507	1.11	0.58432	D	0.999999	B	0.28258	0.205	B	0.35971	0.215	T	0.05971	-1.0853	10	0.10636	T	0.68	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	401	Q9NZW5	MPP6_HUMAN	S	401;289;401	ENSP00000222644:A401S;ENSP00000386262:A289S;ENSP00000379737:A401S	ENSP00000222644:A401S	A	+	1	0	MPP6	24685361	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.863000	0.87023	2.837000	0.97791	0.655000	0.94253	GCT	MPP6	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000105926		0.378	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	HGNC	protein_coding	OTTHUMT00000250272.4	-	0	77	0	G			24718836	1	tier1	-	no_errors	ENST00000222644	ensembl	human	known	74_37	missense	11.49	77	10	SNP	1.000	T	T	24718836	G	T	24718836	3	4	87	1	0	0	0	0	1	0	0	0	9776	971	34	3	1235	3	MPP6	7	24718836	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1951639	24718836	134419827	775	23899											
OSBPL3	26031	genome.wustl.edu	37	chr7	24932011	24932011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacctgtcgacttccttgCttggaagagcagctacttgt	7	15	9	10	1	0	1	0	0	0	1	2	3	1	2	2	1	5	3	2	1	3	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:24932011C>T	ENST00000313367.2	-	2	532	c.81G>A	c.(79-81)aaG>aaA	p.K27K	OSBPL3_ENST00000409069.1_Silent_p.K27K|OSBPL3_ENST00000396431.1_Silent_p.K27K|OSBPL3_ENST00000431825.2_Silent_p.K27K|OSBPL3_ENST00000352860.1_Silent_p.K27K|OSBPL3_ENST00000353930.1_Silent_p.K27K|OSBPL3_ENST00000396429.1_Silent_p.K27K	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	27					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GACTTCCTTGCTTGGAAGAGC	0.413																																																	0													118	99	106					7																	24932011		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.81G>A	7.37:g.24932011C>T			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K27	ENST00000313367.2	37	c.81	CCDS5390.1	7																																																																																			OSBPL3	-	NULL	ENSG00000070882		0.413	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	-	0	40	0	C			24932011	-1	tier1	-	no_errors	ENST00000313367	ensembl	human	known	74_37	silent	10.42	43	5	SNP	1.000	T	T	24932011	C	T	24932011	2	4	87	1	0	0	0	0	0	0	0	1	11318	796	28	3		3	OSBPL3	7	24932011	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	213175	24932011	134206652	776	23900											
HOXA9	3205	genome.wustl.edu	37	chr7	27204776	27204776	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacctgccgtccggcgccgCcgccgccacgggcgcctggg	2	4	16	19	8	0	0	0	0	0	0	1	0	1	0	8	3	2	1	8	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:27204776C>G	ENST00000343483.6	-	1	373	c.301G>C	c.(301-303)Gcg>Ccg	p.A101P	RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Missense_Mutation_p.A101P|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	101					endothelial cell activation (GO:0042118)|multicellular organismal development (GO:0007275)|negative regulation of myeloid cell differentiation (GO:0045638)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TCCGGCGCCGCCGCCGCCACG	0.716			T	"NUP98, MSI2"	AML*																																			Dom	yes		7	7p15-p14.2	3205	homeo box A9		L	0													7	10	9					7																	27204776		2031	4025	6056	SO:0001583	missense	0				CCDS5409.1	7p15.2	2011-06-20	2005-12-22		ENSG00000078399	ENSG00000078399		"Homeoboxes / ANTP class : HOXL subclass"	5109	protein-coding gene	gene with protein product		142956	"homeo box A9"	HOX1G, HOX1		1973146, 1358459	Standard	NM_152739		Approved		uc003syt.3	P31269	OTTHUMG00000023220	ENST00000343483.6:c.301G>C	7.37:g.27204776C>G	ENSP00000343619:p.Ala101Pro		O43369|O43429|Q99820	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A101P	ENST00000343483.6	37	c.301	CCDS5409.1	7	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474612	0.26511	.	.	ENSG00000078399	ENST00000343483;ENST00000242050;ENST00000396345	D	0.93763	-3.28	5.36	5.36	0.76844	Hox9, N-terminal activation domain (1);	0.000000	0.64402	D	0.000011	D	0.89753	0.6806	L	0.41236	1.265	0.43971	D	0.996651	B	0.09022	0.002	B	0.15484	0.013	D	0.85651	0.1282	10	0.40728	T	0.16	.	13.9871	0.64341	0.1515:0.8485:0.0:0.0	.	101	P31269	HXA9_HUMAN	P	101;92;101	ENSP00000343619:A101P	ENSP00000242050:A92P	A	-	1	0	HOXA9	27171301	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.772000	0.47678	2.535000	0.85469	0.561000	0.74099	GCG	HOXA9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9	ENSG00000078399		0.716	HOXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA9	HGNC	protein_coding	OTTHUMT00000358706.2		0	33	0	C			27204776	-1			no_errors	ENST00000343483	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	27204776	C	G	27204776	3	3	87	1	0	0	0	0	1	0	0	0	7325	739	26	5	525	5	HOXA9	7	27204776	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2272765	27204776	131933887	777	23901											
CCDC129	223075	genome.wustl.edu	37	chr7	31618022	31618022	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcatcttgcaggcaaaGgaccagactcatttgaaatg	12	11	9	9	0	3	2	2	1	2	1	4	3	3	3	1	2	1	2	1	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:31618022G>T	ENST00000407970.3	+	8	1182	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.G408*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.G290*	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGCAGGCAAAGGACCAGACTC	0.483																																																	0																																										SO:0001587	stop_gained	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1144G>T	7.37:g.31618022G>T	ENSP00000384416:p.Gly382*		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Nonsense_Mutation	SNP	NULL	p.G408*	ENST00000407970.3	37	c.1222	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	38	6.830510	0.97869	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	.	.	.	5.61	-0.22	0.13130	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5263	2.756	0.05293	0.1721:0.3899:0.3143:0.1237	.	.	.	.	X	382;408;392;290	.	.	G	+	1	0	CCDC129	31584547	0.018000	0.18449	0.005000	0.12908	0.571000	0.35966	0.005000	0.13129	0.090000	0.17273	0.655000	0.94253	GGA	CCDC129	-	NULL	ENSG00000180347		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1		0	11	0	G	NM_194300		31618022	1			no_errors	ENST00000451887	ensembl	human	known	74_37	nonsense	18.18	9	2	SNP	0.007	T	T	31618022	G	T	31618022	4	4	87	1	0	0	0	0	0	1	0	0	2771	1001	35	3	1170	3	CCDC129	7	31618022	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4413246	31618022	127520641	778	23902											
CCDC129	223075	genome.wustl.edu	37	chr7	31682910	31682910	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagaaagctcatcacagtgTatccccaagcacagtgaaat	15	7	7	12	0	2	2	2	1	0	1	3	2	3	2	3	0	2	3	3	0	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:31682910T>C	ENST00000407970.3	+	11	1964	c.1926T>C	c.(1924-1926)tgT>tgC	p.C642C	CCDC129_ENST00000319386.3_Silent_p.C494C|CCDC129_ENST00000451887.2_Silent_p.C668C|CCDC129_ENST00000409210.1_Silent_p.C550C	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	642										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCACAGTGTATCCCCAAGC	0.498																																																	0													131	113	119					7																	31682910		2203	4300	6503	SO:0001819	synonymous_variant	0			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1926T>C	7.37:g.31682910T>C			A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Silent	SNP	NULL	p.C668	ENST00000407970.3	37	c.2004	CCDS5435.2	7																																																																																			CCDC129	-	NULL	ENSG00000180347		0.498	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	-	0	25	0	T	NM_194300		31682910	1	tier1	-	no_errors	ENST00000451887	ensembl	human	known	74_37	silent	33.33	18	9	SNP	0.000	C	C	31682910	T	C	31682910	2	2	87	1	0	0	0	0	0	0	0	1	2771	1644	57	4		4	CCDC129	7	31682910	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	64888	31682910	127455753	779	23903											
ANLN	54443	genome.wustl.edu	37	chr7	36445892	36445892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcctcggcaactccagttgGcagaaggggccgtctggcca	7	7	14	13	2	1	1	0	0	1	1	3	1	2	1	4	5	2	3	4	5	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:36445892G>A	ENST00000265748.2	+	4	811	c.590G>A	c.(589-591)gGc>gAc	p.G197D	ANLN_ENST00000396068.2_Missense_Mutation_p.G197D	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	197	Nuclear localization.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ACTCCAGTTGGCAGAAGGGGC	0.488																																																	0													76	76	76					7																	36445892		2203	4300	6503	SO:0001583	missense	0			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"Pleckstrin homology (PH) domain containing"	14082	protein-coding gene	gene with protein product			"anillin (Drosophila Scraps homolog), actin binding protein", "anillin, actin binding protein (scraps homolog, Drosophila)"			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.590G>A	7.37:g.36445892G>A	ENSP00000265748:p.Gly197Asp		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G197D	ENST00000265748.2	37	c.590	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256668	0.59321	.	.	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.03553	3.89;3.89	5.95	5.95	0.96441	.	0.142363	0.64402	D	0.000005	T	0.18299	0.0439	M	0.74258	2.255	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.986;0.994;0.997;0.994	T	0.00003	-1.2575	10	0.87932	D	0	-14.2276	15.1548	0.72733	0.0:0.0:0.8589:0.1411	.	74;197;197;197	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	D	197	ENSP00000265748:G197D;ENSP00000379380:G197D	ENSP00000265748:G197D	G	+	2	0	ANLN	36412417	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	6.430000	0.73391	2.827000	0.97445	0.650000	0.86243	GGC	ANLN	-	NULL	ENSG00000011426		0.488	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	-	0	55	0	G	NM_018685		36445892	1	tier1	-	no_errors	ENST00000265748	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A	A	36445892	G	A	36445892	3	1	87	1	0	0	0	0	1	0	0	0	694	1203	42	3	604	3	ANLN	7	36445892	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4762982	36445892	122692771	780	23904											
ELMO1	9844	genome.wustl.edu	37	chr7	37251076	37251076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgttaggttcagactcaGcatcaaaagcaattcttcga	12	13	8	8	1	4	1	3	0	1	1	5	2	4	1	0	1	2	5	0	1	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:37251076G>A	ENST00000310758.4	-	13	1648	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V	ELMO1_ENST00000448602.1_Missense_Mutation_p.A334V|ELMO1_ENST00000442504.1_Missense_Mutation_p.A334V	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	334	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTCAGACTCAGCATCAAAAGC	0.428																																																	0													164	128	140					7																	37251076		2203	4300	6503	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1001C>T	7.37:g.37251076G>A	ENSP00000312185:p.Ala334Val		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.A334V	ENST00000310758.4	37	c.1001	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313448	0.40996	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.9	4.9	0.64082	Engulfment/cell motility, ELMO (2);	0.065706	0.64402	D	0.000010	T	0.24314	0.0589	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.03268	-1.1054	10	0.27785	T	0.31	.	12.3777	0.55289	0.0791:0.0:0.9209:0.0	.	334	Q92556	ELMO1_HUMAN	V	334;238;334;334;75	ENSP00000312185:A334V;ENSP00000406952:A334V;ENSP00000394458:A334V;ENSP00000395933:A75V	ENSP00000312185:A334V	A	-	2	0	ELMO1	37217601	1.000000	0.71417	0.965000	0.40720	0.906000	0.53458	5.309000	0.65774	2.652000	0.90054	0.491000	0.48974	GCT	ELMO1	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000155849		0.428	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	63	0	G	NM_130442		37251076	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	12.50	49	7	SNP	0.992	A	A	37251076	G	A	37251076	3	1	87	1	0	0	0	0	1	0	0	0	5081	971	34	3	1222	3	ELMO1	7	37251076	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	805184	37251076	121887587	781	23905											
HECW1	23072	genome.wustl.edu	37	chr7	43484922	43484922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggttcgccagccacacGcgcttctcctccgtggacag	8	7	10	16	4	1	0	0	0	1	0	4	1	2	1	4	2	2	2	4	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:43484922G>A	ENST00000395891.2	+	11	2756	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	HECW1_ENST00000453890.1_Silent_p.T717T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	717					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAGCCACACGCGCTTCTCCT	0.632																																																	0													53	58	56					7																	43484922		2144	4250	6394	SO:0001819	synonymous_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2151G>A	7.37:g.43484922G>A			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.T717	ENST00000395891.2	37	c.2151	CCDS5469.2	7																																																																																			HECW1	-	NULL	ENSG00000002746		0.632	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	-	0	35	0	G	NM_015052		43484922	1	tier1	-	no_errors	ENST00000395891	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.986	A	A	43484922	G	A	43484922	2	1	87	1	0	0	0	0	0	0	0	1	7069	1074	38	1		1	HECW1	7	43484922	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6233846	43484922	115653741	782	23906											
TNS3	64759	genome.wustl.edu	37	chr7	47408140	47408140	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggatcagcctgttgagCtgctcgatggactggtcgat	7	11	13	10	2	1	1	1	1	0	0	4	5	2	3	2	3	3	3	2	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:47408140C>T	ENST00000398879.1	-	17	2469	c.2103G>A	c.(2101-2103)caG>caA	p.Q701Q	TNS3_ENST00000311160.9_Silent_p.Q701Q|TNS3_ENST00000355730.3_Silent_p.Q461Q			Q68CZ2	TENS3_HUMAN	tensin 3	701					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCCTGTTGAGCTGCTCGATGG	0.627																																																	0													127	145	139					7																	47408140		2063	4212	6275	SO:0001819	synonymous_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2103G>A	7.37:g.47408140C>T			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q701	ENST00000398879.1	37	c.2103	CCDS5506.2	7																																																																																			TNS3	-	NULL	ENSG00000136205		0.627	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	-	0	77	0	C	NM_022748		47408140	-1	tier1	-	no_errors	ENST00000311160	ensembl	human	known	74_37	silent	11.94	59	8	SNP	1.000	T	T	47408140	C	T	47408140	2	4	87	1	0	0	0	0	0	0	0	1	16391	796	28	3		3	TNS3	7	47408140	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3923218	47408140	111730523	783	23907											
PKD1L1	168507	genome.wustl.edu	37	chr7	47955186	47955186	+	Frame_Shift_Del	DEL	A	A	-																															aactgaaaatgtaaaagatgAaaaaaaatacctataaaagc																								rs544774439	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:47955186delA	ENST00000289672.2	-	8	1121	c.1071delT	c.(1069-1071)tttfs	p.F357fs		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	357					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						gtaaaagatgaaaaaaaatac	0.299													|||unknown(LONG_INSERTION)	8	0.00159744	8e-04	0	5008	,	,		16915	0		0	False		,,,				2504	0.0072																0													48	48	48					7																	47955186		2203	4300	6503	SO:0001589	frameshift_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1071delT	7.37:g.47955186delA	ENSP00000289672:p.Phe357fs		Q6UWK1	Frame_Shift_Del	DEL	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.H358fs	ENST00000289672.2	37	c.1071	CCDS34633.1	7																																																																																			PKD1L1	-	NULL	ENSG00000158683		0.299	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0	38	0	A	NM_138295		47955186	-1	tier1		no_errors	ENST00000289672	ensembl	human	known	74_37	frame_shift_del	39.13	14	9	DEL	0.006	-	-	47955186	A	-	47955186	7	5	87	1	0	1	0	1	0	0	0	0	12003	243	9	0	7678	0	PKD1L1	7	47955186	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	547046	47955186	111183477	784	23908											
ABCA13	154664	genome.wustl.edu	37	chr7	48392078	48392078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttacccctgccataccaGcgacctgtgagtagcctggg	7	8	10	16	1	0	1	0	1	0	0	0	2	0	1	7	1	5	1	7	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:48392078G>A	ENST00000435803.1	+	31	10706	c.10682G>A	c.(10681-10683)aGc>aAc	p.S3561N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3561					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCCATACCAGCGACCTGTGA	0.537																																																	0													15	18	17					7																	48392078		1895	4127	6022	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10682G>A	7.37:g.48392078G>A	ENSP00000411096:p.Ser3561Asn		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S3561N	ENST00000435803.1	37	c.10682	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951395	0.53186	.	.	ENSG00000179869	ENST00000435803	D	0.87029	-2.2	5.06	4.18	0.49190	.	0.221230	0.31648	N	0.007296	D	0.89118	0.6624	L	0.49640	1.575	0.80722	D	1	P;D	0.63046	0.612;0.992	B;P	0.60415	0.242;0.874	D	0.88677	0.3199	10	0.59425	D	0.04	.	10.5517	0.45092	0.0893:0.0:0.9107:0.0	.	1263;3561	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3561	ENSP00000411096:S3561N	ENSP00000411096:S3561N	S	+	2	0	ABCA13	48362624	0.997000	0.39634	0.964000	0.40570	0.432000	0.31715	2.628000	0.46477	1.105000	0.41606	0.462000	0.41574	AGC	ABCA13	-	NULL	ENSG00000179869		0.537	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	50	0	G	NM_152701		48392078	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.993	A	A	48392078	G	A	48392078	3	1	87	1	0	0	0	0	1	0	0	0	31	971	34	3	10633	3	ABCA13	7	48392078	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	436892	48392078	110746585	785	23909											
IKZF1	10320	genome.wustl.edu	37	chr7	50455091	50455091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccgaagctataaacagcGaagctctttagaggaacata	15	8	10	8	2	1	1	0	0	1	1	1	4	1	2	1	2	5	2	1	2	8	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:50455091G>A	ENST00000331340.3	+	6	793	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R126Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.R126Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	213					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TATAAACAGCGAAGCTCTTTA	0.493			"D,T"	BCL6	"ALL, DLBCL"																																			"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)											47	49	48					7																	50455091		1863	4100	5963	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.638G>A	7.37:g.50455091G>A	ENSP00000331614:p.Arg213Gln		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R213Q	ENST00000331340.3	37	c.638		7	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798786	0.70567	.	.	ENSG00000185811	ENST00000343574;ENST00000331340;ENST00000438033	T;T;T	0.60920	2.42;0.15;2.42	5.77	5.77	0.91146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.72534	0.3472	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60012	0.867;0.732	T	0.68595	-0.5367	9	0.33940	T	0.23	-15.7331	19.9886	0.97358	0.0:0.0:1.0:0.0	.	126;213	Q13422-2;Q13422	.;IKZF1_HUMAN	Q	126;213;126	ENSP00000342750:R126Q;ENSP00000331614:R213Q;ENSP00000396554:R126Q	ENSP00000331614:R213Q	R	+	2	0	IKZF1	50422585	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.717000	0.74707	2.726000	0.93360	0.655000	0.94253	CGA	IKZF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185811		0.493	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	-	0	55	0	G	NM_006060		50455091	1	tier1	-	no_errors	ENST00000331340	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A	A	50455091	G	A	50455091	3	1	87	1	0	0	0	0	1	0	0	0	7641	1058	37	1	656	1	IKZF1	7	50455091	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2063013	50455091	108683572	786	23910											
FIGNL1	63979	genome.wustl.edu	37	chr7	50513032	50513032	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggagaaacactaggtcGcacagttctaaaagcatttt	13	13	8	7	1	1	1	0	0	1	1	2	2	1	1	0	2	2	3	0	2	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:50513032G>A	ENST00000419119.1	-	2	3507	c.1954C>T	c.(1954-1956)Cga>Tga	p.R652*	FIGNL1_ENST00000395556.2_Nonsense_Mutation_p.R652*|FIGNL1_ENST00000433017.1_Nonsense_Mutation_p.R652*|FIGNL1_ENST00000356889.4_Nonsense_Mutation_p.R652*			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	652					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				ACACTAGGTCGCACAGTTCTA	0.388																																																	0													75	72	73					7																	50513032		2203	4300	6503	SO:0001587	stop_gained	0			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"ATPases / AAA-type"	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1954C>T	7.37:g.50513032G>A	ENSP00000410811:p.Arg652*		D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Nonsense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R652*	ENST00000419119.1	37	c.1954	CCDS5510.1	7	.	.	.	.	.	.	.	.	.	.	G	45	12.010305	0.99626	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4471	19.8676	0.96824	0.0:0.0:1.0:0.0	.	.	.	.	X	652	.	ENSP00000349356:R652X	R	-	1	2	FIGNL1	50480526	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.612000	0.61169	2.941000	0.99782	0.655000	0.94253	CGA	FIGNL1	-	pfam_Vps4_C,superfamily_P-loop_NTPase	ENSG00000132436		0.388	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FIGNL1	HGNC	protein_coding	OTTHUMT00000342579.1	-	0	69	0	G	NM_001042762		50513032	-1	tier1	-	no_errors	ENST00000356889	ensembl	human	known	74_37	nonsense	6.85	68	5	SNP	1.000	A	A	50513032	G	A	50513032	4	1	87	1	0	0	0	0	0	1	0	0	5914	1095	38	1	74	1	FIGNL1	7	50513032	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	57941	50513032	108625631	787	23911											
EGFR	1956	genome.wustl.edu	37	chr7	55224336	55224336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggcgatctccacatcctgCcggtggcatttagggggtga	6	10	15	10	2	1	1	0	1	1	0	3	2	2	1	3	5	1	1	3	5	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:55224336C>T	ENST00000275493.2	+	9	1294	c.1117C>T	c.(1117-1119)Ccg>Tcg	p.P373S	EGFR_ENST00000420316.2_Missense_Mutation_p.P373S|EGFR_ENST00000454757.2_Missense_Mutation_p.P320S|EGFR_ENST00000342916.3_Missense_Mutation_p.P373S|EGFR_ENST00000442591.1_Missense_Mutation_p.P373S|EGFR_ENST00000344576.2_Missense_Mutation_p.P373S|EGFR_ENST00000455089.1_Missense_Mutation_p.P328S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	373					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCACATCCTGCCGGTGGCATT	0.403		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													80	83	82					7																	55224336		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1117C>T	7.37:g.55224336C>T	ENSP00000275493:p.Pro373Ser		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P373S	ENST00000275493.2	37	c.1117	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	2.986	-0.209255	0.06140	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.95	5.95	0.96441	EGF receptor, L domain (1);	0.210787	0.51477	D	0.000084	T	0.22003	0.0530	N	0.17474	0.49	0.37126	D	0.901044	B;B;P;P;P	0.41978	0.05;0.385;0.747;0.767;0.495	B;B;B;B;B	0.32583	0.035;0.101;0.123;0.148;0.099	T	0.18461	-1.0336	10	0.08837	T	0.75	.	13.8634	0.63574	0.1526:0.8474:0.0:0.0	.	328;373;373;373;373	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	S	328;373;243;373;373;373;373;320;167	ENSP00000415559:P328S;ENSP00000342376:P373S;ENSP00000345973:P373S;ENSP00000413843:P373S;ENSP00000275493:P373S;ENSP00000410031:P373S;ENSP00000395243:P320S	ENSP00000275493:P373S	P	+	1	0	EGFR	55191830	0.793000	0.28825	0.994000	0.49952	0.790000	0.44656	2.130000	0.42064	2.825000	0.97269	0.655000	0.94253	CCG	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000146648		0.403	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0	47	0	C	NM_005228		55224336	1	tier1	-	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	28.81	42	17	SNP	0.893	T	T	55224336	C	T	55224336	3	4	87	1	0	0	0	0	1	0	0	0	4981	739	26	3	1151	3	EGFR	7	55224336	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4711304	55224336	103914327	788	23912											
GUSB	2990	genome.wustl.edu	37	chr7	65439350	65439350	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaccacatcacgaccgcGgggtggttcttgtccctacg	8	8	11	14	4	2	1	1	0	1	1	3	2	3	1	3	3	1	1	3	3	1	3	rs368144710		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:65439350G>A	ENST00000304895.4	-	8	1453	c.1323C>T	c.(1321-1323)ccC>ccT	p.P441P	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Silent_p.P295P|GUSB_ENST00000345660.6_Silent_p.P390P	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	441					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCACGACCGCGGGGTGGTTCT	0.582																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	135	122	126		1323	-9.6	0	7		126	0,8600		0,0,4300	no	coding-synonymous	GUSB	NM_000181.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		441/652	65439350	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1323C>T	7.37:g.65439350G>A			B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.P441	ENST00000304895.4	37	c.1323	CCDS5530.1	7																																																																																			GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2	ENSG00000169919		0.582	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	-	0	56	0	G	NM_000181		65439350	-1	tier1	-	no_errors	ENST00000304895	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.044	A	A	65439350	G	A	65439350	2	1	87	1	0	0	0	0	0	0	0	1	6929	1103	39	1		1	GUSB	7	65439350	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10215014	65439350	93699313	789	23913											
AUTS2	26053	genome.wustl.edu	37	chr7	70239044	70239044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatcgatgtcgctgctcggCctgggacagtcccacacact	7	9	10	15	3	0	0	0	0	0	0	4	2	1	1	2	2	1	2	2	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:70239044C>T	ENST00000342771.4	+	12	2182	c.1861C>T	c.(1861-1863)Cct>Tct	p.P621S	AUTS2_ENST00000406775.2_Intron	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	621										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGCTGCTCGGCCTGGGACAGT	0.502																																																	0													132	103	113					7																	70239044		2203	4300	6503	SO:0001583	missense	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1861C>T	7.37:g.70239044C>T	ENSP00000344087:p.Pro621Ser		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.P621S	ENST00000342771.4	37	c.1861	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402552	0.42613	.	.	ENSG00000158321	ENST00000342771	T	0.36520	1.25	6.06	6.06	0.98353	.	0.049027	0.85682	D	0.000000	T	0.46964	0.1420	L	0.35644	1.08	0.80722	D	1	D;D	0.63046	0.992;0.98	P;P	0.56960	0.755;0.81	T	0.09100	-1.0690	9	.	.	.	-16.1792	19.609	0.95594	0.0:1.0:0.0:0.0	.	73;621	B4DLG0;Q8WXX7	.;AUTS2_HUMAN	S	621	ENSP00000344087:P621S	.	P	+	1	0	AUTS2	69876980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.645000	0.67909	2.882000	0.98803	0.655000	0.94253	CCT	AUTS2	-	NULL	ENSG00000158321		0.502	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0	34	0	C			70239044	1	tier1	-	no_errors	ENST00000342771	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	T	T	70239044	C	T	70239044	3	4	87	1	0	0	0	0	1	0	0	0	1226	739	26	3	2052	3	AUTS2	7	70239044	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4799694	70239044	88899619	790	23914											
WBSCR17	64409	genome.wustl.edu	37	chr7	71135007	71135007	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagaagagcattaaggaaAagtttaaagtgtaagaattt	20	10	10	1	0	0	3	0	0	0	3	0	5	0	4	0	1	1	3	0	1	9	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:71135007A>G	ENST00000333538.5	+	8	1951	c.1317A>G	c.(1315-1317)aaA>aaG	p.K439K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	439					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTAAGGAAAAGTTTAAAGT	0.453																																																	0													132	132	132					7																	71135007		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1317A>G	7.37:g.71135007A>G			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K439	ENST00000333538.5	37	c.1317	CCDS5540.1	7																																																																																			WBSCR17	-	NULL	ENSG00000185274		0.453	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	64	0	A	NM_022479		71135007	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	G	G	71135007	A	G	71135007	2	3	87	1	0	0	0	0	0	0	0	1	17313	11	1	4		4	WBSCR17	7	71135007	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	895963	71135007	88003656	791	23915											
ELN	2006	genome.wustl.edu	37	chr7	73470749	73470749	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggagtcggaggtgtcccGggagttggcatttcccgtga	5	9	16	11	4	0	1	0	1	0	0	3	4	2	4	3	5	0	2	3	5	0	2	rs367742656		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:73470749G>A	ENST00000252034.7	+	20	1698	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	ELN_ENST00000380575.4_Silent_p.P423P|ELN_ENST00000445912.1_Silent_p.P433P|ELN_ENST00000380584.4_Silent_p.P419P|ELN_ENST00000358929.4_Silent_p.P433P|ELN_ENST00000320492.7_Intron|ELN_ENST00000320399.6_Silent_p.P433P|ELN_ENST00000429192.1_Silent_p.P438P|ELN_ENST00000458204.1_Silent_p.P423P|ELN_ENST00000414324.1_Silent_p.P428P|ELN_ENST00000357036.5_Silent_p.P438P|ELN_ENST00000380553.4_Silent_p.P316P|ELN_ENST00000380576.5_Silent_p.P433P|ELN_ENST00000380562.4_Silent_p.P433P	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GAGGTGTCCCGGGAGTTGGCA	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						G|||	1	0.000199681	8e-04	0	5008	,	,		15602	0		0	False		,,,				2504	0							Dom	yes		7	7q11.23	2006	elastin	yes	L	0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	89	83	85		1299,1269,1314,1314,1299	-4.6	0.1	7		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ELN	NM_000501.2,NM_001081752.1,NM_001081753.1,NM_001081754.1,NM_001081755.1	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	433/725,423/678,438/693,438/712,433/706	73470749	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1299G>A	7.37:g.73470749G>A			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	prints_Tropoelastin	p.P433	ENST00000252034.7	37	c.1299	CCDS5562.2	7																																																																																			ELN	-	NULL	ENSG00000049540		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0	82	0	G	NM_000501		73470749	1	tier1	-	no_errors	ENST00000358929	ensembl	human	known	74_37	silent	13.98	80	13	SNP	0.075	A	A	73470749	G	A	73470749	2	1	87	1	0	0	0	0	0	0	0	1	5087	1103	39	1		1	ELN	7	73470749	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2335742	73470749	85667914	792	23916											
SRRM3	222183	genome.wustl.edu	37	chr7	75894705	75894705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacacagagtccccaggccGgaggtctcatcgccatagca	10	6	10	15	2	2	1	2	0	1	1	5	2	3	2	4	3	1	1	4	3	1	1	rs527778424		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:75894705G>A	ENST00000326382.8	+	10	956	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	SRRM3_ENST00000388802.4_Missense_Mutation_p.R250Q	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	250	Arg-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCCCCAGGCCGGAGGTCTCAT	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		11619	0		0	False		,,,				2504	0																0													48	49	49					7																	75894705		1568	3582	5150	SO:0001583	missense	0			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.749G>A	7.37:g.75894705G>A	ENSP00000325298:p.Arg250Gln		A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R250Q	ENST00000326382.8	37	c.749		7	.	.	.	.	.	.	.	.	.	.	G	16.37	3.102935	0.56183	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02301	4.35	4.86	4.86	0.63082	.	0.326197	0.22332	N	0.061450	T	0.06872	0.0175	L	0.53249	1.67	0.23376	N	0.997805	D	0.76494	0.999	P	0.56751	0.805	T	0.44251	-0.9340	10	0.13853	T	0.58	-16.9334	16.9862	0.86340	0.0:0.0:1.0:0.0	.	250	A6NNA2	SRRM3_HUMAN	Q	250	ENSP00000373454:R250Q	ENSP00000325298:R250Q	R	+	2	0	SRRM3	75732641	0.954000	0.32549	0.993000	0.49108	0.973000	0.67179	3.387000	0.52501	2.254000	0.74563	0.555000	0.69702	CGG	SRRM3	-	NULL	ENSG00000177679		0.647	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	-	0	76	0	G	NM_001110199		75894705	1	tier1	-	no_errors	ENST00000388802	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.461	A	A	75894705	G	A	75894705	3	1	87	1	0	0	0	0	1	0	0	0	15217	1116	39	1	783	1	SRRM3	7	75894705	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2423956	75894705	83243958	793	23917											
MAGI2	9863	genome.wustl.edu	37	chr7	77814972	77814972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccattcgaaaactggtcCtgggtggcacttgttctgga	9	12	11	9	1	1	0	0	0	1	0	4	2	3	1	2	4	1	2	2	4	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:77814972C>A	ENST00000354212.4	-	13	2538	c.2285G>T	c.(2284-2286)aGg>aTg	p.R762M	MAGI2_ENST00000419488.1_Intron|MAGI2_ENST00000522391.1_Missense_Mutation_p.R762M	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	762					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAAACTGGTCCTGGGTGGCAC	0.353																																																	0													113	111	112					7																	77814972		2203	4300	6503	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2285G>T	7.37:g.77814972C>A	ENSP00000346151:p.Arg762Met		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.R762M	ENST00000354212.4	37	c.2285	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298289	0.81025	.	.	ENSG00000187391	ENST00000354212;ENST00000536298;ENST00000522391	T;T	0.38240	1.15;1.15	6.02	6.02	0.97574	PDZ/DHR/GLGF (1);	0.000000	0.40728	U	0.001037	T	0.58694	0.2140	L	0.55481	1.735	0.80722	D	1	P;D	0.67145	0.718;0.996	B;D	0.74023	0.235;0.982	T	0.54938	-0.8218	10	0.59425	D	0.04	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	762;762	B7Z4H4;Q86UL8	.;MAGI2_HUMAN	M	762	ENSP00000346151:R762M;ENSP00000428389:R762M	ENSP00000346151:R762M	R	-	2	0	MAGI2	77652908	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.850000	0.98022	0.650000	0.86243	AGG	MAGI2	-	superfamily_PDZ	ENSG00000187391		0.353	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0	70	0	C	NM_012301		77814972	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	A	A	77814972	C	A	77814972	3	1	87	1	0	0	0	0	1	0	0	0	9229	681	24	3	2122	3	MAGI2	7	77814972	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1920267	77814972	81323691	794	23918											
CD36	948	genome.wustl.edu	37	chr7	80303352	80303352	+	Frame_Shift_Del	DEL	A	A	-																															ttcagaagtcaagtaactggAaaaataaacctccttggcct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:80303352delA	ENST00000435819.1	+	17	1992	c.1308delA	c.(1306-1308)ggafs	p.G436fs	CD36_ENST00000447544.2_Frame_Shift_Del_p.G436fs|CD36_ENST00000534394.1_Frame_Shift_Del_p.G360fs|CD36_ENST00000394788.3_Frame_Shift_Del_p.G436fs|CD36_ENST00000433696.2_Frame_Shift_Del_p.G397fs|CD36_ENST00000432207.1_Frame_Shift_Del_p.G436fs|CD36_ENST00000538969.1_Frame_Shift_Del_p.G376fs|CD36_ENST00000309881.7_Frame_Shift_Del_p.G436fs|CD36_ENST00000544133.1_3'UTR			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	436					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTAACTGGAAAAATAAACC	0.363																																																	0													137	135	136					7																	80303352		2202	4300	6502	SO:0001589	frameshift_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"CD molecules"	1663	protein-coding gene	gene with protein product		173510	"CD36 antigen (collagen type I receptor, thrombospondin receptor)"			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.1308delA	7.37:g.80303352delA	ENSP00000399421:p.Gly436fs		D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Frame_Shift_Del	DEL	pfam_CD36,prints_CD36_antigen,prints_CD36	p.I438fs	ENST00000435819.1	37	c.1308	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36_antigen	ENSG00000135218		0.363	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6		0	103	0	A	NM_001001547		80303352	1	tier1		no_errors	ENST00000309881	ensembl	human	known	74_37	frame_shift_del	14.12	73	12	DEL	0.986	-	-	80303352	A	-	80303352	7	5	87	1	0	1	0	1	0	0	0	0	3014	233	9	0	1354	0	CD36	7	80303352	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	2488380	80303352	78835311	795	23919											
CACNA2D1	781	genome.wustl.edu	37	chr7	81637040	81637040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccggttatgttgaagacCggaagagttccagtaatgac	11	10	13	7	2	0	4	0	2	0	2	1	5	1	5	3	3	0	4	3	3	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:81637040C>T	ENST00000356253.5	-	16	1650	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000464354.1_5'UTR|CACNA2D1_ENST00000356860.3_Silent_p.P465P|MIR1255B1_ENST00000454066.1_RNA			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	465	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGTTGAAGACCGGAAGAGTTC	0.313																																																	0													48	47	47					7																	81637040		2203	4299	6502	SO:0001819	synonymous_variant	0			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"Calcium channel subunits"	1399	protein-coding gene	gene with protein product		114204	"long intergenic non-protein coding RNA 1112"	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1395G>A	7.37:g.81637040C>T			Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.P465	ENST00000356253.5	37	c.1395		7																																																																																			CACNA2D1	-	pfam_Cache_domain	ENSG00000153956		0.313	CACNA2D1-201	KNOWN	basic	protein_coding	CACNA2D1	HGNC	protein_coding		-	0	83	0	C			81637040	-1	tier1	-	no_errors	ENST00000356253	ensembl	human	known	74_37	silent	28.87	68	28	SNP	1.000	T	T	81637040	C	T	81637040	2	4	87	1	0	0	0	0	0	0	0	1	2555	639	23	1		1	CACNA2D1	7	81637040	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1333688	81637040	77501623	796	23920											
PCLO	27445	genome.wustl.edu	37	chr7	82578944	82578944	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggatgcagtactttctGtggacttatatcatcaggga	10	14	10	7	0	4	0	2	0	2	0	4	3	4	3	0	3	2	2	0	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:82578944G>A	ENST00000333891.9	-	6	11297	c.10960C>T	c.(10960-10962)Cag>Tag	p.Q3654*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q374*|PCLO_ENST00000423517.2_Nonsense_Mutation_p.Q3654*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTACTTTCTGTGGACTTATA	0.473																																																	0													185	180	182					7																	82578944		1918	4121	6039	SO:0001587	stop_gained	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10960C>T	7.37:g.82578944G>A	ENSP00000334319:p.Gln3654*			Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q3654*	ENST00000333891.9	37	c.10960	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.448310	0.96205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.8309	0.96634	0.0:0.0:1.0:0.0	.	.	.	.	X	3585;3654;3654;374	.	ENSP00000334319:Q3654X	Q	-	1	0	PCLO	82416880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.470000	0.97683	2.684000	0.91462	0.650000	0.86243	CAG	PCLO	-	NULL	ENSG00000186472		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	66	0	G	NM_014510		82578944	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	nonsense	28.95	54	22	SNP	1.000	A	A	82578944	G	A	82578944	4	1	87	1	0	0	0	0	0	1	0	0	11622	1386	48	3	4565	3	PCLO	7	82578944	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	941904	82578944	76559719	797	23921											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86571386	86571386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttttacccacttgtcagtgGtggtgtccatctcctggcac	5	14	10	12	0	2	0	1	0	1	0	4	0	3	0	3	3	1	2	3	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:86571386G>A	ENST00000450689.2	-	5	874	c.689C>T	c.(688-690)aCc>aTc	p.T230I	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T230I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T63I|KIAA1324L_ENST00000297222.6_5'Flank	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	230						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CTTGTCAGTGGTGGTGTCCAT	0.388																																																	0													174	152	159					7																	86571386		692	1591	2283	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.689C>T	7.37:g.86571386G>A	ENSP00000413445:p.Thr230Ile		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.T230I	ENST00000450689.2	37	c.689	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656819	0.67586	.	.	ENSG00000164659	ENST00000450689;ENST00000444627;ENST00000416314	T;T;T	0.40756	1.02;1.02;1.02	5.64	4.75	0.60458	.	0.314901	0.28618	U	0.014711	T	0.36608	0.0973	L	0.44542	1.39	0.80722	D	1	B;B	0.32526	0.374;0.374	B;B	0.29785	0.107;0.067	T	0.12785	-1.0534	10	0.37606	T	0.19	.	15.5908	0.76526	0.0:0.138:0.862:0.0	.	230;63	A8MWY0;B4DJV3	K132L_HUMAN;.	I	230;230;63	ENSP00000413445:T230I;ENSP00000397377:T230I;ENSP00000402390:T63I	ENSP00000402390:T63I	T	-	2	0	KIAA1324L	86409322	1.000000	0.71417	0.978000	0.43139	0.999000	0.98932	4.396000	0.59684	1.348000	0.45733	0.650000	0.86243	ACC	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.388	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	58	0	G	NM_152748		86571386	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.995	A	A	86571386	G	A	86571386	3	1	87	1	0	0	0	0	1	0	0	0	8251	1261	44	3	2472	3	KIAA1324L	7	86571386	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3992442	86571386	72567277	798	23922											
DMTF1	9988	genome.wustl.edu	37	chr7	86817539	86817539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgttcagataagagttGcccgcttggaagataataca	14	10	10	7	1	1	3	1	0	0	3	1	4	1	4	1	1	3	4	1	1	4	6	rs146399689	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:86817539G>T	ENST00000394703.5	+	15	1896	c.1333G>T	c.(1333-1335)Gcc>Tcc	p.A445S	DMTF1_ENST00000331242.7_Missense_Mutation_p.A445S|DMTF1_ENST00000432937.2_Missense_Mutation_p.A357S|DMTF1_ENST00000414194.2_Missense_Mutation_p.A179S|DMTF1_ENST00000413276.2_Intron	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	445	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GATAAGAGTTGCCCGCTTGGA	0.428													G|||	7	0.00139776	0.0053	0	5008	,	,		17813	0		0	False		,,,				2504	0																0								G	SER/ALA,SER/ALA,SER/ALA	12,4394	19.1+/-41.9	0,12,2191	169	160	163		1069,1333,1333	5.6	1	7	dbSNP_134	163	0,8600		0,0,4300	yes	missense,missense,missense	DMTF1	NM_001142326.1,NM_001142327.1,NM_021145.3	99,99,99	0,12,6491	TT,TG,GG		0.0,0.2724,0.0923	possibly-damaging,possibly-damaging,possibly-damaging	357/673,445/761,445/761	86817539	12,12994	2203	4300	6503	SO:0001583	missense	0			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1333G>T	7.37:g.86817539G>T	ENSP00000378193:p.Ala445Ser		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A445S	ENST00000394703.5	37	c.1333	CCDS5601.1	7	8	0.003663003663003663	8	0.016260162601626018	0	0.0	0	0.0	0	0.0	G	18.65	3.669151	0.67814	0.002724	0.0	ENSG00000135164	ENST00000331242;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T	0.51817	0.74;0.74;0.74;0.69	5.57	5.57	0.84162	.	0.196417	0.51477	D	0.000085	T	0.18841	0.0452	N	0.19112	0.55	0.47659	D	0.999487	P	0.42692	0.787	B	0.37387	0.248	T	0.04386	-1.0955	10	0.15066	T	0.55	-7.1891	18.9103	0.92481	0.0:0.0:1.0:0.0	.	445	Q9Y222	DMTF1_HUMAN	S	445;357;445;179	ENSP00000332171:A445S;ENSP00000412532:A357S;ENSP00000378193:A445S;ENSP00000415910:A179S	ENSP00000332171:A445S	A	+	1	0	DMTF1	86655475	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	5.130000	0.64745	2.780000	0.95670	0.655000	0.94253	GCC	DMTF1	-	NULL	ENSG00000135164		0.428	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0	108	0	G	NM_021145		86817539	1			no_errors	ENST00000331242	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.994	T	T	86817539	G	T	86817539	3	4	87	1	0	0	0	0	1	0	0	0	4606	1319	46	3	1375	3	DMTF1	7	86817539	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	246153	86817539	72321124	799	23923											
ABCB4	5244	genome.wustl.edu	37	chr7	87074282	87074282	+	Frame_Shift_Del	DEL	A	A	-																															gaaagctccaattaggattgAaaaaaaaacctgagcaaaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:87074282delA	ENST00000265723.4	-	10	1126	c.1015delT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000358400.3_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000545634.1_Frame_Shift_Del_p.S339fs|ABCB4_ENST00000453593.1_Frame_Shift_Del_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATTAGGATTGAAAAAAAAACC	0.348																																																	1	Deletion - Frameshift(1)	lung(1)	GRCh37	CD034702	ABCB4	D							56	53	54					7																	87074282		2203	4300	6503	SO:0001589	frameshift_variant	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"ATP binding cassette transporters / subfamily B"	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1015delT	7.37:g.87074282delA	ENSP00000265723:p.Ser339fs		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Del	DEL	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S339fs	ENST00000265723.4	37	c.1015	CCDS5606.1	7																																																																																			ABCB4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000005471		0.348	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1		0	48	0	A	NM_000443		87074282	-1	tier1		no_errors	ENST00000265723	ensembl	human	known	74_37	frame_shift_del	22.73	34	10	DEL	1.000	-	-	87074282	A	-	87074282	7	5	87	1	0	1	0	1	0	0	0	0	43	246	9	0	2921	0	ABCB4	7	87074282	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	256743	87074282	72064381	800	23924											
C7orf63	79846	genome.wustl.edu	37	chr7	89884764	89884764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcctatggaccttaatCgtgtcatcaaactcctcgaa	12	11	6	12	2	3	0	3	0	0	0	6	2	4	1	3	1	2	0	3	1	5	2	rs375665829		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:89884764C>A	ENST00000389297.4	+	2	399	c.148C>A	c.(148-150)Cgt>Agt	p.R50S	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.R50S|C7orf63_ENST00000497910.1_Missense_Mutation_p.R50S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		50								p.R50C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GGACCTTAATCGTGTCATCAA	0.333																																																	1	Substitution - Missense(1)	large_intestine(1)											226	218	221					7																	89884764		1819	4079	5898	SO:0001583	missense	0																														ENST00000389297.4:c.148C>A	7.37:g.89884764C>A	ENSP00000373948:p.Arg50Ser		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R50S	ENST00000389297.4	37	c.148	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	C	4.422	0.077984	0.08485	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910	T;T;T	0.42513	0.97;0.97;0.97	4.82	-0.361	0.12564	.	0.566616	0.17378	N	0.176406	T	0.30823	0.0777	L	0.59436	1.845	0.09310	N	0.999999	B;B;B	0.12630	0.002;0.006;0.001	B;B;B	0.17098	0.007;0.017;0.002	T	0.30765	-0.9967	10	0.56958	D	0.05	-0.3287	0.9448	0.01363	0.3114:0.3538:0.1518:0.183	.	50;50;50	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	S	50	ENSP00000373948:R50S;ENSP00000321753:R50S;ENSP00000419549:R50S	ENSP00000321753:R50S	R	+	1	0	C7orf63	89722700	0.838000	0.29461	0.879000	0.34478	0.099000	0.18886	0.266000	0.18534	0.236000	0.21180	-0.218000	0.12543	CGT	C7orf63	-	NULL	ENSG00000105792		0.333	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	-	0	47	0	C			89884764	1	tier1	-	no_errors	ENST00000389297	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.209	A	A	89884764	C	A	89884764	3	1	87	1	0	0	0	0	1	0	0	0	2416	884	31	2	154	2	C7orf63	7	89884764	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2810482	89884764	69253899	801	23925											
PPP1R9A	55607	genome.wustl.edu	37	chr7	94791228	94791228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggatggaatcagcttggtgGgtgtgacacagaattttgca	10	12	14	5	0	1	2	1	1	0	1	1	4	1	4	0	4	2	2	0	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:94791228G>A	ENST00000433881.1	+	5	2231	c.1699G>A	c.(1699-1701)Ggt>Agt	p.G567S	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.G567S|AC002429.5_ENST00000417881.2_RNA|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G567S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G567S|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G567S|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G567S			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	567	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.G567R(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGCTTGGTGGGTGTGACACA	0.363										HNSCC(28;0.073)																																							2	Substitution - Missense(2)	lung(2)											108	94	99					7																	94791228		2203	4300	6503	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.1699G>A	7.37:g.94791228G>A	ENSP00000398870:p.Gly567Ser		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.G567S	ENST00000433881.1	37	c.1699	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.488132	0.96323	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	4.85	4.85	0.62838	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.986	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.981	T	0.72330	-0.4326	10	0.87932	D	0	.	17.6008	0.88024	0.0:0.0:1.0:0.0	.	567;567;567;567;567	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	S	567	ENSP00000405514:G567S;ENSP00000344524:G567S;ENSP00000411342:G567S;ENSP00000398870:G567S;ENSP00000289495:G567S;ENSP00000402893:G567S	ENSP00000289495:G567S	G	+	1	0	PPP1R9A	94629164	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.335000	0.96500	2.634000	0.89283	0.591000	0.81541	GGT	PPP1R9A	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000158528		0.363	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	-	0	55	0	G	NM_001166160		94791228	1	tier1	-	no_errors	ENST00000289495	ensembl	human	known	74_37	missense	11.48	54	7	SNP	1.000	A	A	94791228	G	A	94791228	3	1	87	1	0	0	0	0	1	0	0	0	12420	1232	43	3	1713	3	PPP1R9A	7	94791228	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4906464	94791228	64347435	802	23926											
BAIAP2L1	55971	genome.wustl.edu	37	chr7	97937012	97937012	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttacgccttggacacGtcgtgttctccatagagcca	9	10	9	13	3	1	2	0	0	1	2	3	3	1	3	3	1	2	1	3	1	2	4	rs147254651		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:97937012G>A	ENST00000005260.8	-	10	1367	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	RP4-607J23.2_ENST00000609873.1_RNA|BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	384	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CCTTGGACACGTCGTGTTCTC	0.597													G|||	1	0.000199681	0	0	5008	,	,		19108	0		0	False		,,,				2504	0.001																0								G		0,4406		0,0,2203	141	101	115		1152	-1.4	0	7	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous	BAIAP2L1	NM_018842.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		384/512	97937012	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1152C>T	7.37:g.97937012G>A			A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D384	ENST00000005260.8	37	c.1152	CCDS34687.1	7																																																																																			BAIAP2L1	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000006453		0.597	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	HGNC	protein_coding	OTTHUMT00000334681.1	-	0	33	0	G	NM_018842		97937012	-1	tier1	rs147254651	no_errors	ENST00000005260	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.006	A	A	97937012	G	A	97937012	2	1	87	1	0	0	0	0	0	0	0	1	1303	1136	40	1		1	BAIAP2L1	7	97937012	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3145784	97937012	61201651	803	23927											
TRRAP	8295	genome.wustl.edu	37	chr7	98490094	98490094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatagaataccaaccaaCgaacatcttcgtcctcacac	15	9	3	14	2	3	1	2	0	1	1	5	2	4	1	3	0	4	0	3	0	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:98490094C>T	ENST00000359863.4	+	5	518	c.309C>T	c.(307-309)aaC>aaT	p.N103N	TRRAP_ENST00000446306.3_Silent_p.N103N|TRRAP_ENST00000355540.3_Silent_p.N103N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	103					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TACCAACCAACGAACATCTTC	0.343																																																	0													108	112	110					7																	98490094		2203	4300	6503	SO:0001819	synonymous_variant	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.309C>T	7.37:g.98490094C>T			A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.N103	ENST00000359863.4	37	c.309	CCDS59066.1	7																																																																																			TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.343	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	71	0	C	NM_003496		98490094	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	silent	24.14	44	14	SNP	0.876	T	T	98490094	C	T	98490094	2	4	87	1	0	0	0	0	0	0	0	1	16649	535	19	1		1	TRRAP	7	98490094	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	553082	98490094	60648569	804	23928											
TRRAP	8295	genome.wustl.edu	37	chr7	98508848	98508848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaatcttccaaactaCggtcccttatatggtggaga	14	10	8	9	1	1	2	0	0	1	2	3	3	3	2	2	3	2	0	2	3	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:98508848C>T	ENST00000359863.4	+	17	2170	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T653M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T654M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	654					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAAACTACGGTCCCTTAT	0.368																																																	0													108	103	105					7																	98508848		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1961C>T	7.37:g.98508848C>T	ENSP00000352925:p.Thr654Met		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T654M	ENST00000359863.4	37	c.1961	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.112852|5.112852	0.94339|0.94339	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.45668	.|0.89;0.89	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67505|0.67505	0.2900|0.2900	M|M	0.76838|0.76838	2.35|2.35	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;P;D	.|0.71870	.|0.975;0.828;0.926	T|T	0.65467|0.65467	-0.6161|-0.6161	5|10	.|0.46703	.|T	.|0.11	.|.	20.422|20.422	0.99049|0.99049	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|654;368;654	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	W|M	369|654;654;652	.|ENSP00000352925:T654M;ENSP00000347733:T654M	.|ENSP00000347733:T654M	R|T	+|+	1|2	2|0	TRRAP|TRRAP	98346784|98346784	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.982000|0.982000	0.71751|0.71751	7.818000|7.818000	0.86416|0.86416	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CGG|ACG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.368	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	60	0	C	NM_003496		98508848	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	22.09	67	19	SNP	1.000	T	T	98508848	C	T	98508848	3	4	87	1	0	0	0	0	1	0	0	0	16649	536	19	1	2023	1	TRRAP	7	98508848	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	18754	98508848	60629815	805	23929											
ZKSCAN5	23660	genome.wustl.edu	37	chr7	99103706	99103706	+	Frame_Shift_Del	DEL	C	C	-																															cgagaagttatagacttagaCcccccagctgagacttccca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99103706delC	ENST00000394170.2	+	2	290	c.39delC	c.(37-39)gacfs	p.D13fs	ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.D13fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.D13fs	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	13					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGACTTAGACCCCCCAGCTG	0.483																																																	0													85	88	87					7																	99103706		2203	4300	6503	SO:0001589	frameshift_variant	0			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"Zinc fingers, C2H2-type", "-", "-", "-"	12867	protein-coding gene	gene with protein product		611272	"zinc finger protein homologous to Zfp95 in mouse", "zinc finger protein 95 homolog (mouse)"	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.39delC	7.37:g.99103706delC	ENSP00000377725:p.Asp13fs		A4D280|D6W5S9	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P15fs	ENST00000394170.2	37	c.39	CCDS5667.1	7																																																																																			ZKSCAN5	-	NULL	ENSG00000196652		0.483	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1		0	50	0	C	NM_014569		99103706	1	tier1		no_errors	ENST00000326775	ensembl	human	known	74_37	frame_shift_del	18.18	36	8	DEL	0.980	-	-	99103706	C	-	99103706	7	5	87	1	0	1	0	1	0	0	0	0	17738	506	18	0	41	0	ZKSCAN5	7	99103706	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	594858	99103706	60034957	806	23930											
CYP3A43	64816	genome.wustl.edu	37	chr7	99457552	99457552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcattatgtatgaactggCcactcaccctgatgtccagc	9	12	7	13	0	2	2	2	2	0	0	3	2	3	2	3	1	2	1	3	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99457552C>T	ENST00000354829.2	+	10	1068	c.965C>T	c.(964-966)gCc>gTc	p.A322V	CYP3A43_ENST00000312017.5_Missense_Mutation_p.A322V|CYP3A43_ENST00000417625.1_Missense_Mutation_p.A212V|CYP3A43_ENST00000222382.5_Missense_Mutation_p.A322V|CYP3A43_ENST00000342499.4_Missense_Mutation_p.A182V|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Missense_Mutation_p.A69V|CYP3A43_ENST00000415413.1_Missense_Mutation_p.A111V	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	322			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	TATGAACTGGCCACTCACCCT	0.493																																																	0													159	145	150					7																	99457552		2203	4300	6503	SO:0001583	missense	0			AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"Cytochrome P450s"	17450	protein-coding gene	gene with protein product		606534	"cytochrome P450, subfamily IIIA, polypeptide 43"			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.965C>T	7.37:g.99457552C>T	ENSP00000346887:p.Ala322Val		Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A322V	ENST00000354829.2	37	c.965	CCDS5676.1	7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139380	0.77775	.	.	ENSG00000021461	ENST00000354829;ENST00000417625;ENST00000342499;ENST00000444905;ENST00000415413;ENST00000312017;ENST00000222382	T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	2.49	2.49	0.30216	.	0.000000	0.85682	D	0.000000	D	0.84229	0.5426	M	0.88241	2.94	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.989;0.964;0.982;0.982	D	0.86610	0.1872	10	0.87932	D	0	.	11.0606	0.47944	0.0:1.0:0.0:0.0	.	212;182;322;322;322	Q495Y1;F8W6L8;Q9HB55-3;Q75MK2;Q9HB55	.;.;.;.;CP343_HUMAN	V	322;212;182;69;111;322;322	ENSP00000346887:A322V;ENSP00000416581:A212V;ENSP00000345351:A182V;ENSP00000405557:A69V;ENSP00000401521:A111V;ENSP00000312110:A322V;ENSP00000222382:A322V	ENSP00000222382:A322V	A	+	2	0	CYP3A43	99295488	1.000000	0.71417	0.972000	0.41901	0.916000	0.54674	6.984000	0.76186	1.694000	0.51137	0.205000	0.17691	GCC	CYP3A43	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000021461		0.493	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP3A43	HGNC	protein_coding	OTTHUMT00000344379.1	-	0	106	0	C			99457552	1	tier1	-	no_errors	ENST00000222382	ensembl	human	known	74_37	missense	28.24	61	24	SNP	1.000	T	T	99457552	C	T	99457552	3	4	87	1	0	0	0	0	1	0	0	0	4188	739	26	3	1003	3	CYP3A43	7	99457552	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	353846	99457552	59681111	807	23931											
OR2AE1	81392	genome.wustl.edu	37	chr7	99474005	99474005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactttgaaggatgaagaCataggatgtagaaatcagga	17	8	12	4	0	1	4	1	2	0	2	1	8	1	7	0	3	0	1	0	3	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99474005C>T	ENST00000316368.2	-	1	675	c.652G>A	c.(652-654)Gtc>Atc	p.V218I		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGATGAAGACATAGGATGTA	0.483																																																	0													112	95	101					7																	99474005		2203	4300	6503	SO:0001583	missense	0			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"GPCR / Class A : Olfactory receptors"	15087	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily AE, member 2"	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.652G>A	7.37:g.99474005C>T	ENSP00000313936:p.Val218Ile		B2RPD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V218I	ENST00000316368.2	37	c.652	CCDS34696.1	7	.	.	.	.	.	.	.	.	.	.	C	2.443	-0.328197	0.05314	.	.	ENSG00000244623	ENST00000316368	T	0.00224	8.51	3.62	0.661	0.17874	GPCR, rhodopsin-like superfamily (1);	1.227090	0.06250	N	0.691846	T	0.00144	0.0004	N	0.21240	0.645	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.18085	-1.0348	10	0.48119	T	0.1	.	6.0869	0.19973	0.0:0.4811:0.0:0.5189	.	218	Q8NHA4	O2AE1_HUMAN	I	218	ENSP00000313936:V218I	ENSP00000313936:V218I	V	-	1	0	OR2AE1	99311941	0.000000	0.05858	0.004000	0.12327	0.159000	0.22180	-2.111000	0.01333	0.120000	0.18254	0.494000	0.49563	GTC	OR2AE1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000244623		0.483	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AE1	HGNC	protein_coding	OTTHUMT00000345053.1	-	0	37	0	C			99474005	-1	tier1	-	no_errors	ENST00000316368	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.003	T	T	99474005	C	T	99474005	3	4	87	1	0	0	0	0	1	0	0	0	11022	478	17	3	323	3	OR2AE1	7	99474005	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	16453	99474005	59664658	808	23932											
TRIM4	89122	genome.wustl.edu	37	chr7	99489839	99489839	+	Frame_Shift_Del	DEL	A	A	-																															agatgctaatggactcaaccAaaaaaatggccggaggcgtg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99489839delA	ENST00000355947.2	-	7	1579	c.1450delT	c.(1450-1452)tggfs	p.W484fs	TRIM4_ENST00000349062.2_Frame_Shift_Del_p.W458fs	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	484	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GGACTCAACCAAAAAAATGGC	0.502																																																	0													86	83	84					7																	99489839		2203	4300	6503	SO:0001589	frameshift_variant	0			AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16275	protein-coding gene	gene with protein product	"tripartite motif protein TRIM4", "tripartite motif protein 4"		"tripartite motif-containing 4"			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1450delT	7.37:g.99489839delA	ENSP00000348216:p.Trp484fs		A4D298|Q75MK1|Q96F06|Q9C036	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.W484fs	ENST00000355947.2	37	c.1450	CCDS5679.1	7																																																																																			TRIM4	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000146833		0.502	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM4	HGNC	protein_coding	OTTHUMT00000345050.1		0	20	0	A	NM_033017		99489839	-1	tier1		no_errors	ENST00000355947	ensembl	human	known	74_37	frame_shift_del	25.00	15	5	DEL	0.987	-	-	99489839	A	-	99489839	7	5	87	1	0	1	0	1	0	0	0	0	16562	130	5	0	56	0	TRIM4	7	99489839	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	15834	99489839	59648824	809	23933											
CNPY4	245812	genome.wustl.edu	37	chr7	99720418	99720418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctcagggtcagagtcaGaccatggcaacactgaaagg	13	7	11	10	0	4	3	3	1	1	2	5	3	4	3	1	3	1	1	1	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:99720418G>T	ENST00000262932.3	+	4	486	c.354G>T	c.(352-354)caG>caT	p.Q118H	TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	118						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCAGAGTCAGACCATGGCAA	0.547																																																	0													67	60	62					7																	99720418		2203	4300	6503	SO:0001583	missense	0			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"protein associated with TLR4"	610047	"canopy 4 homolog (zebrafish)"			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.354G>T	7.37:g.99720418G>T	ENSP00000262932:p.Gln118His		Q8WUN9	Missense_Mutation	SNP	pfam_DUF3456	p.Q118H	ENST00000262932.3	37	c.354	CCDS34701.1	7	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600583	0.66332	.	.	ENSG00000166997	ENST00000262932	T	0.37058	1.22	5.63	4.75	0.60458	.	0.125167	0.56097	D	0.000039	T	0.55146	0.1902	M	0.70595	2.14	0.50171	D	0.99985	D	0.71674	0.998	D	0.66979	0.948	T	0.57493	-0.7802	10	0.56958	D	0.05	-23.7711	10.695	0.45894	0.0879:0.0:0.9121:0.0	.	118	Q8N129	CNPY4_HUMAN	H	118	ENSP00000262932:Q118H	ENSP00000262932:Q118H	Q	+	3	2	CNPY4	99558354	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.761000	0.62243	1.383000	0.46405	-0.291000	0.09656	CAG	CNPY4	-	pfam_DUF3456	ENSG00000166997		0.547	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY4	HGNC	protein_coding	OTTHUMT00000337224.4	-	0	40	0	G	NM_152755		99720418	1	tier1	-	no_errors	ENST00000262932	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	T	T	99720418	G	T	99720418	3	4	87	1	0	0	0	0	1	0	0	0	3637	933	33	3	368	3	CNPY4	7	99720418	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	230579	99720418	59418245	810	23934											
ZCWPW1	55063	genome.wustl.edu	37	chr7	100016812	100016812	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attggtaagacttgatttttCctgcagagacaagggtaggg	11	12	13	5	0	0	3	0	1	0	2	1	4	1	3	1	3	1	3	1	3	3	6	rs534015238		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:100016812C>A	ENST00000398027.2	-	5	530	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	ZCWPW1_ENST00000360951.4_Splice_Site_p.E95*|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	95							zinc ion binding (GO:0008270)	p.E95K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTGATTTTTCCTGCAGAGAC	0.443																																																	1	Substitution - Missense(1)	prostate(1)											109	102	104					7																	100016812		1879	4103	5982	SO:0001630	splice_region_variant	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"zinc finger, CW-type with PWWP domain 1"			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.283-1G>T	7.37:g.100016812C>A			A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Nonsense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.E95*	ENST00000398027.2	37	c.283	CCDS43623.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.753312|4.753312	0.89753|0.89753	.|.	.|.	ENSG00000078487|ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559|ENST00000472716	.|.	.|.	.|.	5.37|5.37	3.46|3.46	0.39613|0.39613	.|.	0.816880|.	0.10592|.	N|.	0.656642|.	.|T	.|0.56529	.|0.1991	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53063	.|-0.8491	.|4	.|.	.|.	.|.	-1.4541|-1.4541	7.6841|7.6841	0.28530|0.28530	0.0:0.7407:0.1666:0.0927|0.0:0.7407:0.1666:0.0927	.|.	.|.	.|.	.|.	X|S	95|24	.|.	.|.	E|R	-|-	1|3	0|2	ZCWPW1|ZCWPW1	99854748|99854748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	1.492000|1.492000	0.35594|0.35594	1.403000|1.403000	0.46800|0.46800	0.563000|0.563000	0.77884|0.77884	GAA|AGG	ZCWPW1	-	NULL	ENSG00000078487		0.443	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	-	0	45	0	C	NM_017984	Nonsense_Mutation	100016812	-1	tier1	-	no_errors	ENST00000398027	ensembl	human	known	74_37	nonsense	21.43	44	12	SNP	0.995	A	A	100016812	C	A	100016812	5	1	87	1	0	0	0	0	0	0	1	0	17645	869	30	3	1719	3	ZCWPW1	7	100016812	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	296394	100016812	59121851	811	23935											
PCOLCE	5118	genome.wustl.edu	37	chr7	100205580	100205580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtcagttatctgctgatgGgccaggtagaagagaacaga	13	8	14	6	0	2	4	1	1	1	3	2	6	2	4	1	2	2	3	1	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:100205580G>T	ENST00000223061.5	+	9	1484	c.1204G>T	c.(1204-1206)Ggc>Tgc	p.G402C		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	402	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTGCTGATGGGCCAGGTAGA	0.527																																																	0													85	87	86					7																	100205580		2203	4300	6503	SO:0001583	missense	0			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"procollagen, type 1, COOH-terminal proteinase enhancer", "procollagen C-proteinase enhancer 1"	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1204G>T	7.37:g.100205580G>T	ENSP00000223061:p.Gly402Cys		B2R9E1|O14550	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.G402C	ENST00000223061.5	37	c.1204	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085721	0.76642	.	.	ENSG00000106333	ENST00000223061	T	0.65732	-0.17	5.04	4.16	0.48862	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.125664	0.53938	D	0.000056	T	0.75917	0.3915	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77667	-0.2502	10	0.87932	D	0	-15.4764	10.9046	0.47073	0.092:0.0:0.9079:0.0	.	402	Q15113	PCOC1_HUMAN	C	402	ENSP00000223061:G402C	ENSP00000223061:G402C	G	+	1	0	PCOLCE	100043516	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.176000	0.65026	1.115000	0.41800	0.462000	0.41574	GGC	PCOLCE	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain	ENSG00000106333		0.527	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	-	0	82	0	G	NM_002593		100205580	1	tier1	-	no_errors	ENST00000223061	ensembl	human	known	74_37	missense	23.53	52	16	SNP	1.000	T	T	100205580	G	T	100205580	3	4	87	1	0	0	0	0	1	0	0	0	11633	1232	43	3	1238	3	PCOLCE	7	100205580	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	188768	100205580	58933083	812	23936											
EMID2	136227	genome.wustl.edu	37	chr7	101194404	101194404	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggcctggctggagagCgaggcacagtggggccgtcc	6	5	19	11	2	0	1	0	0	0	1	1	3	1	1	3	6	2	3	3	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:101194404C>T	ENST00000397927.3	+	0	1222				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GGCTGGAGAGCGAGGCACAGT	0.687																																																	0													16	20	19					7																	101194404		1952	3993	5945			0			AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"Collagens", "EMI domain containing"	18038	protein-coding gene	gene with protein product	"Emu2 gene"	608927	"EMI domain containing 2"	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101194404C>T			Q32M90	Nonsense_Mutation	SNP	pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain	p.R337*	ENST00000397927.3	37	c.1009		7	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578990	0.86645	.	.	ENSG00000160963	ENST00000313669	.	.	.	2.87	1.92	0.25849	.	0.306550	0.22924	N	0.053986	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8136	0.23819	0.2775:0.7225:0.0:0.0	.	.	.	.	X	337	.	ENSP00000318234:R337X	R	+	1	2	EMID2	100981124	0.609000	0.26975	0.396000	0.26296	0.222000	0.24845	0.758000	0.26447	0.714000	0.32081	0.555000	0.69702	CGA	COL26A1	-	pfam_Collagen	ENSG00000160963		0.687	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	COL26A1	HGNC	polymorphic_pseudogene	OTTHUMT00000315898.2	-	0	145	0	C	NM_133457		101194404	1	tier1	-	no_errors	ENST00000313669	ensembl	human	known	74_37	nonsense	14.07	115	19	SNP	0.429	T	T	101194404	C	T	101194404	1	4	87	0	1	0	0	0	0	0	0	0	5108	760	27	1		1	EMID2	7	101194404	RNA	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	988824	101194404	57944259	813	23937											
NAPEPLD	222236	genome.wustl.edu	37	chr7	102760123	102760123	+	Frame_Shift_Del	DEL	A	A	-																															aataaccagtatctcctgcgAaaaaaaatcgattccaaggc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:102760123delA	ENST00000417955.1	-	3	996	c.842delT	c.(841-843)ttcfs	p.F281fs	NAPEPLD_ENST00000465647.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000455523.2_Frame_Shift_Del_p.F354fs|NAPEPLD_ENST00000427257.1_Frame_Shift_Del_p.F281fs|NAPEPLD_ENST00000341533.4_Frame_Shift_Del_p.F281fs			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	281				Missing (in Ref. 3; CAI56779). {ECO:0000305}.	phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)	p.F281fs*14(1)		endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATCTCCTGCGAAAAAAAATCG	0.463																																																	1	Deletion - Frameshift(1)	ovary(1)											83	79	80					7																	102760123		2203	4300	6503	SO:0001589	frameshift_variant	0			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.842delT	7.37:g.102760123delA	ENSP00000407112:p.Phe281fs		Q5CZ87|Q769K1	Frame_Shift_Del	DEL	NULL	p.F354fs	ENST00000417955.1	37	c.1061	CCDS5729.1	7																																																																																			NAPEPLD	-	NULL	ENSG00000161048		0.463	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	HGNC	protein_coding	OTTHUMT00000347904.1		0	54	0	A	NM_198990		102760123	-1	tier1		no_errors	ENST00000455523	ensembl	human	known	74_37	frame_shift_del	11.76	60	8	DEL	1.000	-	-	102760123	A	-	102760123	7	5	87	1	0	1	0	1	0	0	0	0	10201	246	9	0	351	0	NAPEPLD	7	102760123	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1565719	102760123	56378540	814	23938											
RELN	5649	genome.wustl.edu	37	chr7	103137131	103137131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcgagttgtgttggtgaggGcatcttcaggaagaagtatg	9	12	16	4	1	2	2	1	1	1	1	3	4	2	3	0	3	0	4	0	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:103137131G>A	ENST00000428762.1	-	56	9194	c.9035C>T	c.(9034-9036)gCc>gTc	p.A3012V	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.A3012V|RELN_ENST00000343529.5_Missense_Mutation_p.A3012V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3012					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTTGGTGAGGGCATCTTCAGG	0.458																																					NSCLC(146;835 1944 15585 22231 52158)												0													122	104	110					7																	103137131		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9035C>T	7.37:g.103137131G>A	ENSP00000392423:p.Ala3012Val		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A3012V	ENST00000428762.1	37	c.9035	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699664	0.88830	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.34667	1.35;1.35;1.35	5.94	5.94	0.96194	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.64768	0.2628	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.978	T	0.64257	-0.6450	10	0.56958	D	0.05	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	3012;3012	P78509-2;P78509	.;RELN_HUMAN	V	3012;3012;3012;529;3012	ENSP00000392423:A3012V;ENSP00000345694:A3012V;ENSP00000388446:A3012V	ENSP00000345694:A3012V	A	-	2	0	RELN	102924367	1.000000	0.71417	0.103000	0.21229	0.526000	0.34562	9.476000	0.97823	2.820000	0.97059	0.650000	0.86243	GCC	RELN	-	superfamily_Sialidases	ENSG00000189056		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	51	0	G	NM_005045		103137131	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.999	A	A	103137131	G	A	103137131	3	1	87	1	0	0	0	0	1	0	0	0	13265	1203	42	3	1387	3	RELN	7	103137131	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	377008	103137131	56001532	815	23939											
RELN	5649	genome.wustl.edu	37	chr7	103629675	103629675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccttccagctccccGtggtgggtgcacaggaaaaa	9	7	10	15	1	0	0	0	0	0	0	3	1	3	1	6	3	2	2	6	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:103629675G>A	ENST00000428762.1	-	1	288	c.129C>T	c.(127-129)caC>caT	p.H43H	RELN_ENST00000424685.2_Silent_p.H43H|RELN_ENST00000343529.5_Silent_p.H43H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	43	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGCTCCCCGTGGTGGGTGC	0.622																																					NSCLC(146;835 1944 15585 22231 52158)												0													44	46	45					7																	103629675		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.129C>T	7.37:g.103629675G>A			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.H43	ENST00000428762.1	37	c.129	CCDS47680.1	7																																																																																			RELN	-	pfscan_Reeler_dom	ENSG00000189056		0.622	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	77	0	G	NM_005045		103629675	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	silent	16.83	84	17	SNP	1.000	A	A	103629675	G	A	103629675	2	1	87	1	0	0	0	0	0	0	0	1	13265	1136	40	1		1	RELN	7	103629675	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	492544	103629675	55508988	816	23940											
COG5	10466	genome.wustl.edu	37	chr7	107188598	107188598	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgggcaactatcttattGtatggttcaacaatttttgc	9	16	8	8	1	2	0	1	0	1	0	3	0	3	0	1	2	3	3	1	2	6	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:107188598G>T	ENST00000347053.3	-	5	518	c.468C>A	c.(466-468)taC>taA	p.Y156*	COG5_ENST00000393603.2_Nonsense_Mutation_p.Y156*|COG5_ENST00000297135.3_Nonsense_Mutation_p.Y156*|COG5_ENST00000475638.2_5'UTR	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	156					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTATCTTATTGTATGGTTCAA	0.308																																																	0													95	102	100					7																	107188598		2203	4300	6503	SO:0001587	stop_gained	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.468C>A	7.37:g.107188598G>T	ENSP00000334703:p.Tyr156*		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Nonsense_Mutation	SNP	pfam_Cog5	p.Y156*	ENST00000347053.3	37	c.468	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566312	0.86439	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	.	.	.	5.09	2.31	0.28768	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8953	7.954	0.30031	0.3268:0.0:0.6732:0.0	.	.	.	.	X	156	.	ENSP00000297135:Y156X	Y	-	3	2	COG5	106975834	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.565000	0.36386	0.262000	0.21774	0.655000	0.94253	TAC	COG5	-	pfam_Cog5	ENSG00000164597		0.308	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	-	0	74	0	G			107188598	-1	tier1	-	no_errors	ENST00000297135	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	T	T	107188598	G	T	107188598	4	4	87	1	0	0	0	0	0	1	0	0	3668	1372	48	3	2190	3	COG5	7	107188598	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3558923	107188598	51950065	817	23941											
IMMP2L	83943	genome.wustl.edu	37	chr7	110303715	110303715	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagaacagattccaatttCtgccagcgctctgggggcca	10	8	12	11	1	2	2	0	0	2	2	3	3	3	3	3	3	3	1	3	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:110303715C>T	ENST00000405709.2	-	6	913	c.471G>A	c.(469-471)caG>caA	p.Q157Q	IMMP2L_ENST00000450877.1_Silent_p.Q139Q|IMMP2L_ENST00000415362.1_Silent_p.Q157Q|IMMP2L_ENST00000452895.1_Silent_p.Q157Q|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000331762.3_Silent_p.Q157Q	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	157					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		ATTCCAATTTCTGCCAGCGCT	0.478																																																	0													75	75	75					7																	110303715		2203	4300	6503	SO:0001819	synonymous_variant	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)", "IMMP2L intronic transcript 1 (non-protein coding)"	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.471G>A	7.37:g.110303715C>T			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.Q157	ENST00000405709.2	37	c.471	CCDS5753.1	7																																																																																			IMMP2L	-	superfamily_Peptidase_S24_S26A/B/C	ENSG00000184903		0.478	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	-	0	48	0	C	NM_032549		110303715	-1	tier1	-	no_errors	ENST00000331762	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.998	T	T	110303715	C	T	110303715	2	4	87	1	0	0	0	0	0	0	0	1	7744	912	32	3		3	IMMP2L	7	110303715	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3115117	110303715	48834948	818	23942											
ZNF277	11179	genome.wustl.edu	37	chr7	111967771	111967771	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctcaaatttcttcctaGatctgttattttgaaccaca	11	17	4	9	0	3	2	1	1	2	1	4	2	4	2	2	0	2	2	2	0	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:111967771G>T	ENST00000361822.3	+	6	686		c.e6-1		AC004112.4_ENST00000411413.1_RNA|AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000450657.1_Splice_Site	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277						cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTTCTTCCTAGATCTGTTATT	0.323																																																	0													93	84	87					7																	111967771		2203	4300	6503	SO:0001630	splice_region_variant	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"zinc finger protein (C2H2 type) 277", "zinc finger protein 277 pseudogene"	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.558-1G>T	7.37:g.111967771G>T			Q75MZ2|Q75MZ3|Q8WY14	Splice_Site	SNP	-	e6-1	ENST00000361822.3	37	c.558-1	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298302	0.81025	.	.	ENSG00000198839	ENST00000361822;ENST00000425229;ENST00000450657	.	.	.	5.76	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6103	0.84881	0.0:0.0:0.8688:0.1312	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF277	111755007	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.739000	0.98837	1.554000	0.49487	0.655000	0.94253	.	ZNF277	-	-	ENSG00000198839		0.323	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	-	0	47	0	G	NM_021994	Intron	111967771	1	tier1	-	no_errors	ENST00000361822	ensembl	human	known	74_37	splice_site	16.67	40	8	SNP	1.000	T	T	111967771	G	T	111967771	5	4	87	1	0	0	0	0	0	0	1	0	17860	956	33	3	579	3	ZNF277	7	111967771	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1664056	111967771	47170892	819	23943											
ING3	54556	genome.wustl.edu	37	chr7	120606729	120606729	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaacaatcaccatgcTcattcacatactccagtgga	13	9	6	13	0	3	1	3	1	0	0	4	2	4	2	3	1	3	1	3	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:120606729T>C	ENST00000315870.5	+	6	562	c.414T>C	c.(412-414)gcT>gcC	p.A138A	ING3_ENST00000431467.1_Silent_p.A123A	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	138					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ATCACCATGCTCATTCACATA	0.368																																																	0													212	192	199					7																	120606729		2203	4300	6503	SO:0001819	synonymous_variant	0			AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"Zinc fingers, PHD-type"	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.414T>C	7.37:g.120606729T>C			A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A138	ENST00000315870.5	37	c.414	CCDS5778.1	7																																																																																			ING3	-	NULL	ENSG00000071243		0.368	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ING3	HGNC	protein_coding	OTTHUMT00000280453.2	-	0	88	0	T	NM_019071		120606729	1	tier1	-	no_errors	ENST00000315870	ensembl	human	known	74_37	silent	8.97	71	7	SNP	0.995	C	C	120606729	T	C	120606729	2	2	87	1	0	0	0	0	0	0	0	1	7764	1538	54	4		4	ING3	7	120606729	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	8638958	120606729	38531934	820	23944											
GCC1	79571	genome.wustl.edu	37	chr7	127223205	127223205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtccagctgcagaatGcgctccttcagcttctgaat	8	11	9	13	1	2	2	1	1	1	1	5	2	5	2	3	1	4	4	3	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:127223205G>A	ENST00000321407.2	-	2	1615	c.1191C>T	c.(1189-1191)cgC>cgT	p.R397R	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	397					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTGCAGAATGCGCTCCTTCA	0.552																																																	0													85	82	83					7																	127223205		2203	4300	6503	SO:0001819	synonymous_variant	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1191C>T	7.37:g.127223205G>A			Q9H6N7	Silent	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.R397	ENST00000321407.2	37	c.1191	CCDS5796.1	7																																																																																			GCC1	-	NULL	ENSG00000179562		0.552	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3		0	28	0	G	NM_024523		127223205	-1			no_errors	ENST00000321407	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.880	A	A	127223205	G	A	127223205	2	1	87	1	0	0	0	0	0	0	0	1	6310	1306	46	3		3	GCC1	7	127223205	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6616476	127223205	31915458	821	23945											
FSCN3	29999	genome.wustl.edu	37	chr7	127240252	127240252	+	Frame_Shift_Del	DEL	G	G	-																															gctcttccttctccagcacaGgggggatccttctggtcaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:127240252delG	ENST00000265825.5	+	6	1515	c.1296delG	c.(1294-1296)cagfs	p.Q432fs	FSCN3_ENST00000420086.2_Splice_Site	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	432						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTCCAGCACAGGGGGGATCCT	0.572																																																	0													50	48	48					7																	127240252		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"Fascins"	3961	protein-coding gene	gene with protein product		615800	"fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)", "fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1296delG	7.37:g.127240252delG	ENSP00000265825:p.Gln432fs		A4D0Z2|A6NLL7|B2RA62|B4DU68	Frame_Shift_Del	DEL	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.G434fs	ENST00000265825.5	37	c.1296	CCDS34746.1	7																																																																																			FSCN3	-	superfamily_Actin_cross-linking	ENSG00000106328		0.572	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	HGNC	protein_coding	OTTHUMT00000059256.2		0	74	0	G	NM_020369		127240252	1	tier1		no_errors	ENST00000265825	ensembl	human	known	74_37	frame_shift_del	13.73	44	7	DEL	1.000	-	-	127240252	G	-	127240252	7	5	87	1	0	1	0	1	0	0	0	0	6093	991	35	0	1318	0	FSCN3	7	127240252	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	17047	127240252	31898411	822	23946											
C7orf45	136263	genome.wustl.edu	37	chr7	129847928	129847928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttctctagggcttctGtctgggtaggatatcttttt	4	20	10	7	0	5	0	0	0	5	0	6	1	5	1	0	3	0	3	0	3	3	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:129847928G>T	ENST00000297819.3	+	1	229	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	TMEM209_ENST00000473456.1_5'Flank|TMEM209_ENST00000397622.2_5'Flank|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_5'Flank|TMEM209_ENST00000462753.1_5'Flank	NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	60						integral component of membrane (GO:0016021)		p.V60F(1)|p.V60I(1)									TAGGGCTTCTGTCTGGGTAGG	0.333																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)											181	181	181					7																	129847928		2203	4300	6503	SO:0001583	missense	0			AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 45"	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.178G>T	7.37:g.129847928G>T	ENSP00000297819:p.Val60Phe			Missense_Mutation	SNP	NULL	p.V60F	ENST00000297819.3	37	c.178	CCDS5816.1	7	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235950	0.58886	.	.	ENSG00000165120	ENST00000297819	T	0.52526	0.66	5.84	-3.2	0.05156	.	1.142040	0.06464	N	0.729938	T	0.38134	0.1029	L	0.57536	1.79	0.32216	N	0.57593	B	0.24368	0.102	B	0.24155	0.051	T	0.44937	-0.9295	10	0.51188	T	0.08	0.1647	2.2569	0.04057	0.155:0.3331:0.3043:0.2076	.	60	Q8WWF3	CG045_HUMAN	F	60	ENSP00000297819:V60F	ENSP00000297819:V60F	V	+	1	0	C7orf45	129635164	0.729000	0.28090	0.925000	0.36789	0.925000	0.55904	-0.599000	0.05700	-0.432000	0.07297	0.655000	0.94253	GTC	SSMEM1	-	NULL	ENSG00000165120		0.333	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSMEM1	HGNC	protein_coding	OTTHUMT00000349768.1		0	56	0	G	NM_145268		129847928	1			no_errors	ENST00000297819	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.839	T	T	129847928	G	T	129847928	3	4	87	1	0	0	0	0	1	0	0	0	2402	1377	48	3	180	3	C7orf45	7	129847928	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2607676	129847928	29290735	823	23947											
PLXNA4	91584	genome.wustl.edu	37	chr7	131912284	131912284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgattgcccacgaccagcCcatccatctctgacaggtcc	8	9	7	17	1	2	2	0	2	2	0	5	3	4	2	5	1	2	0	5	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:131912284C>A	ENST00000359827.3	-	7	2770	c.1808G>T	c.(1807-1809)gGg>gTg	p.G603V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G603V			Q9HCM2	PLXA4_HUMAN	plexin A4	603					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACGACCAGCCCATCCATCTC	0.607																																																	0													72	76	75					7																	131912284		2083	4221	6304	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1808G>T	7.37:g.131912284C>A	ENSP00000352882:p.Gly603Val		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G603V	ENST00000359827.3	37	c.1808	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467582	0.84533	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00949	5.51;5.51	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000024	T	0.04952	0.0133	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.65323	0.934	T	0.23691	-1.0181	10	0.87932	D	0	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	603	Q9HCM2	PLXA4_HUMAN	V	603	ENSP00000323194:G603V;ENSP00000352882:G603V	ENSP00000323194:G603V	G	-	2	0	PLXNA4	131562824	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.734000	0.62043	2.722000	0.93159	0.655000	0.94253	GGG	PLXNA4	-	NULL	ENSG00000221866		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	49	0	C	NM_181775		131912284	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	A	A	131912284	C	A	131912284	3	1	87	1	0	0	0	0	1	0	0	0	12161	623	22	3	3980	3	PLXNA4	7	131912284	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2064356	131912284	27226379	824	23948											
PTN	5764	genome.wustl.edu	37	chr7	136938294	136938294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcagctccagtccgagtgCcctcccgtgtgcccagccca	6	7	9	19	2	1	0	1	0	0	0	4	1	4	0	6	0	4	1	6	0	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:136938294C>T	ENST00000348225.2	-	3	633	c.206G>A	c.(205-207)gGc>gAc	p.G69D	PTN_ENST00000393083.2_Missense_Mutation_p.G69D	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	69					bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						AGTCCGAGTGCCCTCCCGTGT	0.517																																																	0													113	94	101					7																	136938294		2203	4300	6503	SO:0001583	missense	0			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"Endogenous ligands"	9630	protein-coding gene	gene with protein product	"heparin binding growth factor 8"	162095	"neurite growth-promoting factor 1"	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.206G>A	7.37:g.136938294C>T	ENSP00000341170:p.Gly69Asp		Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	p.G69D	ENST00000348225.2	37	c.206	CCDS5844.1	7	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883676	0.91740	.	.	ENSG00000105894	ENST00000348225;ENST00000393083	.	.	.	5.41	5.41	0.78517	Midkine heparin-binding growth factor, N-terminal (3);Midkine heparin-binding growth factor, conserved site (1);Midkine heparin-binding growth factor, disulphide-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80056	-0.1542	9	0.87932	D	0	-14.9339	19.2046	0.93724	0.0:1.0:0.0:0.0	.	69;69	C9JR52;P21246	.;PTN_HUMAN	D	69	.	ENSP00000341170:G69D	G	-	2	0	PTN	136588834	1.000000	0.71417	0.999000	0.59377	0.733000	0.41908	7.764000	0.85297	2.548000	0.85928	0.585000	0.79938	GGC	PTN	-	pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	ENSG00000105894		0.517	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTN	HGNC	protein_coding	OTTHUMT00000341339.1		0	25	0	C	NM_002825		136938294	-1			no_errors	ENST00000348225	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T	T	136938294	C	T	136938294	3	4	87	1	0	0	0	0	1	0	0	0	12811	739	26	3	312	3	PTN	7	136938294	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5026010	136938294	22200369	825	23949											
SVOPL	136306	genome.wustl.edu	37	chr7	138356801	138356801	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaattctccagttgcCattcacagcggatgacagga	10	9	9	13	1	2	1	1	1	1	0	3	3	2	3	4	2	3	1	4	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:138356801C>A	ENST00000419765.3	-	3	269	c.236G>T	c.(235-237)tGg>tTg	p.W79L	SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	79						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCAGTTGCCATTCACAGCG	0.522																																																	0													251	192	209					7																	138356801		692	1591	2283	SO:0001583	missense	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"SV2 related protein homolog (rat)-like"				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.236G>T	7.37:g.138356801C>A	ENSP00000405482:p.Trp79Leu			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.W79L	ENST00000419765.3	37	c.236	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744464	0.89663	.	.	ENSG00000157703	ENST00000419765	T	0.45276	0.9	5.58	5.58	0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.61085	0.2319	M	0.66939	2.045	0.80722	D	1	D	0.67145	0.996	D	0.66847	0.947	T	0.56294	-0.8003	9	0.31617	T	0.26	-14.1918	16.4937	0.84209	0.0:1.0:0.0:0.0	.	79	Q8N434	SVOPL_HUMAN	L	79	ENSP00000405482:W79L	ENSP00000405482:W79L	W	-	2	0	SVOPL	138007341	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.683000	0.74533	2.633000	0.89246	0.650000	0.86243	TGG	SVOPL	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157703		0.522	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	-	0	113	0	C	NM_174959		138356801	-1	tier1	-	no_errors	ENST00000419765	ensembl	human	novel	74_37	missense	21.69	65	18	SNP	1.000	A	A	138356801	C	A	138356801	3	1	87	1	0	0	0	0	1	0	0	0	15471	595	21	3	1294	3	SVOPL	7	138356801	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1418507	138356801	20781862	826	23950											
KIAA1549	57670	genome.wustl.edu	37	chr7	138665892	138665892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaggaagcagcagccccgGgcggcggcggcgggcgcagc	6	0	20	15	6	0	0	0	0	0	0	0	1	0	1	3	6	4	3	3	6	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:138665892G>A	ENST00000422774.1	-	1	172	c.124C>T	c.(124-126)Ccg>Tcg	p.P42S	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P42S			Q9HCM3	K1549_HUMAN	KIAA1549	42						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCAgccccgggcggcggcgg	0.816			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													1	1	1					7																	138665892		69	284	353	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.124C>T	7.37:g.138665892G>A	ENSP00000416040:p.Pro42Ser		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.P42S	ENST00000422774.1	37	c.124	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420820	0.25639	.	.	ENSG00000122778	ENST00000440172;ENST00000422774	T;T	0.25912	1.77;1.77	3.28	1.34	0.21922	.	.	.	.	.	T	0.12817	0.0311	N	0.14661	0.345	0.80722	D	1	B;B	0.21520	0.034;0.057	B;B	0.20577	0.013;0.03	T	0.09314	-1.0680	9	0.45353	T	0.12	.	5.1339	0.14924	0.3054:0.0:0.6946:0.0	.	42;42	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	S	42	ENSP00000406661:P42S;ENSP00000416040:P42S	ENSP00000416040:P42S	P	-	1	0	KIAA1549	138316432	0.995000	0.38212	0.626000	0.29213	0.301000	0.27625	0.797000	0.26999	0.102000	0.17638	0.134000	0.15878	CCG	KIAA1549	-	NULL	ENSG00000122778		0.816	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0	10	0	G			138665892	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.808	A	A	138665892	G	A	138665892	3	1	87	1	0	0	0	0	1	0	0	0	8271	1232	43	3	5808	3	KIAA1549	7	138665892	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	309091	138665892	20472771	827	23951											
TAS2R41	259287	genome.wustl.edu	37	chr7	143175407	143175407	+	Frame_Shift_Del	DEL	T	T	-																															ccttcatcataaccctgctgTttttttgggtgaactaccct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:143175407delT	ENST00000408916.1	+	1	442	c.442delT	c.(442-444)tttfs	p.F149fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	149					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					AACCCTGCTGTTTTTTTGGGT	0.443																																																	0													49	49	49					7																	143175407		1859	4105	5964	SO:0001589	frameshift_variant	0			AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.442delT	7.37:g.143175407delT	ENSP00000386201:p.Phe149fs		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Frame_Shift_Del	DEL	pfam_TAS2_rcpt	p.W150fs	ENST00000408916.1	37	c.442	CCDS43663.1	7																																																																																			TAS2R41	-	pfam_TAS2_rcpt	ENSG00000221855		0.443	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R41	HGNC	protein_coding	OTTHUMT00000342149.1		0	39	0	T			143175407	1	tier1		no_errors	ENST00000408916	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	0.499	-	-	143175407	T	-	143175407	7	5	87	1	0	1	0	1	0	0	0	0	15626	1725	60	0	444	0	TAS2R41	7	143175407	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	4509515	143175407	15963256	828	23952											
OR2A14	135941	genome.wustl.edu	37	chr7	143826931	143826931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttctccacctgctcctcCcacctttgcgtggtgggact	3	12	9	17	1	1	0	0	0	1	0	4	1	3	1	6	2	2	1	6	2	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:143826931C>T	ENST00000408899.2	+	1	781	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTGCTCCTCCCACCTTTGCG	0.602																																																	0													108	112	111					7																	143826931		2048	4216	6264	SO:0001819	synonymous_variant	0				CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"GPCR / Class A : Olfactory receptors"	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.726C>T	7.37:g.143826931C>T			Q6IF41|Q8NGT8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S242	ENST00000408899.2	37	c.726	CCDS43672.1	7																																																																																			OR2A14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000221938		0.602	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A14	HGNC	protein_coding	OTTHUMT00000349980.1	-	0	99	0	C			143826931	1	tier1	-	no_errors	ENST00000408899	ensembl	human	known	74_37	silent	25.86	86	30	SNP	1.000	T	T	143826931	C	T	143826931	2	4	87	1	0	0	0	0	0	0	0	1	11015	610	22	3		3	OR2A14	7	143826931	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	651524	143826931	15311732	829	23953											
ARHGEF35	445328	genome.wustl.edu	37	chr7	143884145	143884145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacagagctgcgggggaCagttcctcagccctggactc	8	6	15	12	1	1	2	1	0	0	2	3	5	2	4	2	4	3	2	2	4	0	1	rs568698658	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:143884145C>T	ENST00000378115.2	-	2	1461	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	ARHGEF35_ENST00000543357.1_Silent_p.L444L	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	444										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGCGGGGGACAGTTCCTCAG	0.562													-|||	3	0.000599042	0.0023	0	5008	,	,		14096	0		0	False		,,,				2504	0																0													25	26	26					7																	143884145		2126	4128	6254	SO:0001819	synonymous_variant	0			AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"Rho guanine nucleotide exchange factors"	33846	protein-coding gene	gene with protein product			"Rho guanine nucleotide exchange factor (GEF) 5-like"	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.1332G>A	7.37:g.143884145C>T			Q6ZUI2	Silent	SNP	NULL	p.L444	ENST00000378115.2	37	c.1332	CCDS34770.1	7																																																																																			ARHGEF35	-	NULL	ENSG00000213214		0.562	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF35	HGNC	protein_coding	OTTHUMT00000349997.1		0	66	0	C	NM_001003702		143884145	-1			no_errors	ENST00000378115	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.045	T	T	143884145	C	T	143884145	2	4	87	1	0	0	0	0	0	0	0	1	905	465	17	3		3	ARHGEF35	7	143884145	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	57214	143884145	15254518	830	23954											
CUL1	8454	genome.wustl.edu	37	chr7	148480914	148480914	+	Frame_Shift_Del	DEL	A	A	-																															agacagtgcttgatgttcatAaaaaatacaatgccctggta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:148480914delA	ENST00000325222.4	+	10	1402	c.1123delA	c.(1123-1125)aaafs	p.K376fs	CUL1_ENST00000409469.1_Frame_Shift_Del_p.K376fs|CUL1_ENST00000602748.1_Frame_Shift_Del_p.K376fs	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGATGTTCATAAAAAATACAA	0.413																																																	0													148	135	139					7																	148480914		2203	4300	6503	SO:0001589	frameshift_variant	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1123delA	7.37:g.148480914delA	ENSP00000326804:p.Lys376fs		D3DWG3|O60719|Q08AL6|Q8IYW1	Frame_Shift_Del	DEL	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.K376fs	ENST00000325222.4	37	c.1123	CCDS34772.1	7																																																																																			CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000055130		0.413	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1		0	63	0	A	NM_003592		148480914	1	tier1		no_errors	ENST00000325222	ensembl	human	known	74_37	frame_shift_del	17.81	60	13	DEL	1.000	-	-	148480914	A	-	148480914	7	5	87	1	0	1	0	1	0	0	0	0	4063	363	13	0	1157	0	CUL1	7	148480914	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	4596769	148480914	10657749	831	23955											
PDIA4	9601	genome.wustl.edu	37	chr7	148702314	148702314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgaacttcttcccactctCgtccaggatggcggcattga	7	10	11	13	3	2	1	0	1	2	0	5	3	4	2	2	4	1	1	2	4	1	3	rs369276090		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:148702314C>T	ENST00000286091.4	-	9	1673	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	481					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTCCCACTCTCGTCCAGGATG	0.582											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LYS/GLU	0,4406		0,0,2203	206	175	185		1441	5.6	1	7		185	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDIA4	NM_004911.4	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	481/646	148702314	1,13005	2203	4300	6503	SO:0001583	missense	0			BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"Protein disulfide isomerases"	30167	protein-coding gene	gene with protein product			"protein disulfide isomerase-associated 4"			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1441G>A	7.37:g.148702314C>T	ENSP00000286091:p.Glu481Lys	1719	A8K4K6|Q549T6	Missense_Mutation	SNP	pirsf_Protein_diS-isomerase_A4,pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,prints_Calsequestrin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.E481K	ENST00000286091.4	37	c.1441	CCDS5893.1	7	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495964	0.64186	0.0	1.16E-4	ENSG00000155660	ENST00000286091	T	0.13657	2.57	5.57	5.57	0.84162	Thioredoxin-like fold (1);	0.102510	0.64402	D	0.000003	T	0.16300	0.0392	L	0.46157	1.445	0.58432	D	0.999999	B	0.21225	0.053	B	0.17098	0.017	T	0.03898	-1.0994	10	0.27785	T	0.31	.	19.54	0.95270	0.0:1.0:0.0:0.0	.	481	P13667	PDIA4_HUMAN	K	481	ENSP00000286091:E481K	ENSP00000286091:E481K	E	-	1	0	PDIA4	148333247	1.000000	0.71417	0.958000	0.39756	0.959000	0.62525	7.542000	0.82095	2.618000	0.88619	0.655000	0.94253	GAG	PDIA4	-	pirsf_Protein_diS-isomerase_A4,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase	ENSG00000155660		0.582	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA4	HGNC	protein_coding	OTTHUMT00000317077.1	-	0	47	0	C	NM_004911		148702314	-1	tier1	-	no_errors	ENST00000286091	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	T	T	148702314	C	T	148702314	3	4	87	1	0	0	0	0	1	0	0	0	11709	893	31	1	504	1	PDIA4	7	148702314	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	221400	148702314	10436349	832	23956											
ZNF282	8427	genome.wustl.edu	37	chr7	148895518	148895518	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccccgaccgcatgatgCgagagccccagttgcccaca	8	7	9	17	3	1	2	0	1	1	1	2	4	2	2	6	0	3	2	6	0	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:148895518C>T	ENST00000262085.3	+	2	364	c.259C>T	c.(259-261)Cga>Tga	p.R87*	ZNF282_ENST00000479907.1_Nonsense_Mutation_p.R87*	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	87					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CCGCATGATGCGAGAGCCCCA	0.602																																																	0													52	50	51					7																	148895518		2203	4300	6503	SO:0001587	stop_gained	0			D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"Zinc fingers, C2H2-type", "-"	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.259C>T	7.37:g.148895518C>T	ENSP00000262085:p.Arg87*		B4DRI5|O43691|Q6DKK0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R87*	ENST00000262085.3	37	c.259	CCDS5895.1	7	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860397	0.91433	.	.	ENSG00000170265	ENST00000430197;ENST00000262085;ENST00000479907	.	.	.	4.26	0.27	0.15635	.	0.000000	0.42420	D	0.000705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2633	10.1471	0.42771	0.4747:0.5253:0.0:0.0	.	.	.	.	X	2;87;87	.	ENSP00000262085:R87X	R	+	1	2	ZNF282	148526451	0.973000	0.33851	0.982000	0.44146	0.863000	0.49368	0.463000	0.21972	0.282000	0.22254	0.313000	0.20887	CGA	ZNF282	-	NULL	ENSG00000170265		0.602	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF282	HGNC	protein_coding	OTTHUMT00000352746.1	-	0	42	0	C	NM_003575		148895518	1	tier1	-	no_errors	ENST00000262085	ensembl	human	known	74_37	nonsense	24.44	34	11	SNP	0.983	T	T	148895518	C	T	148895518	4	4	87	1	0	0	0	0	0	1	0	0	17867	760	27	1	265	1	ZNF282	7	148895518	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	193204	148895518	10243145	833	23957											
ZNF746	155061	genome.wustl.edu	37	chr7	149171653	149171653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgcccgctgcatggttgCgctggtgcttgcggaggtgg	2	10	19	10	4	0	0	0	0	0	0	0	1	0	1	1	6	4	5	1	6	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149171653C>T	ENST00000340622.3	-	7	2037	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	ZNF746_ENST00000458143.2_Missense_Mutation_p.R587H			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	586					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCATGGTTGCGCTGGTGCTT	0.677																																																	0													45	36	39					7																	149171653		2203	4300	6503	SO:0001583	missense	0			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"Zinc fingers, C2H2-type", "-"	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1757G>A	7.37:g.149171653C>T	ENSP00000345140:p.Arg586His		A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R587H	ENST00000340622.3	37	c.1760	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925573	0.73213	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09911	2.93;2.93	5.58	5.58	0.84498	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000102	T	0.30355	0.0762	L	0.60067	1.865	0.31269	N	0.691941	D;D	0.89917	1.0;0.991	D;P	0.70716	0.97;0.899	T	0.06588	-1.0818	10	0.87932	D	0	-22.5373	17.0667	0.86561	0.0:1.0:0.0:0.0	.	587;586	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	H	586;587	ENSP00000345140:R586H;ENSP00000395007:R587H	ENSP00000345140:R586H	R	-	2	0	ZNF746	148802586	0.533000	0.26354	1.000000	0.80357	0.866000	0.49608	1.408000	0.34668	2.630000	0.89119	0.462000	0.41574	CGC	ZNF746	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181220		0.677	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	-	0	44	0	C	NM_152557		149171653	-1	tier1	-	no_errors	ENST00000458143	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	T	T	149171653	C	T	149171653	3	4	87	1	0	0	0	0	1	0	0	0	18177	768	27	1	181	1	ZNF746	7	149171653	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	276135	149171653	9967010	834	23958											
ZNF467	168544	genome.wustl.edu	37	chr7	149462116	149462116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgaagcggcggccgCactgagcgcaggcgaaaggc	8	3	18	12	6	0	2	0	2	0	0	0	3	0	2	1	5	3	3	1	5	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149462116C>T	ENST00000302017.3	-	5	1888	c.1475G>A	c.(1474-1476)tGc>tAc	p.C492Y	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGGCGGCCGCACTGAGCGCA	0.736																																																	0													11	12	12					7																	149462116		1854	3702	5556	SO:0001583	missense	0			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"Zinc fingers, C2H2-type"	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1475G>A	7.37:g.149462116C>T	ENSP00000304769:p.Cys492Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C492Y	ENST00000302017.3	37	c.1475	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076390	0.76415	.	.	ENSG00000181444	ENST00000302017	D	0.99974	-10.2	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35677	U	0.003045	D	0.99977	0.9993	H	0.94698	3.57	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.96530	0.9392	10	0.87932	D	0	-18.2867	15.504	0.75722	0.0:1.0:0.0:0.0	.	492	Q7Z7K2	ZN467_HUMAN	Y	492	ENSP00000304769:C492Y	ENSP00000304769:C492Y	C	-	2	0	ZNF467	149093049	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	7.373000	0.79623	1.989000	0.58080	0.462000	0.41574	TGC	ZNF467	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181444		0.736	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	-	0	46	0	C	NM_207336		149462116	-1	tier1	-	no_errors	ENST00000302017	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	T	T	149462116	C	T	149462116	3	4	87	1	0	0	0	0	1	0	0	0	17975	710	25	3	316	3	ZNF467	7	149462116	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	290463	149462116	9676547	835	23959											
SSPO	23145	genome.wustl.edu	37	chr7	149484529	149484529	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgtgtggtgactttgatgGagatgccagtaatgatctgc	8	13	14	6	0	1	4	0	3	1	1	1	5	1	4	1	2	2	2	1	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149484529G>A	ENST00000378016.2	+	0	3452							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACTTTGATGGAGATGCCAGT	0.632																																																	0													69	82	78					7																	149484529		2182	4274	6456			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484529G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.632	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	40	0	G			149484529	1	tier1	-	no_errors	ENST00000262089	ensembl	human	known	74_37	rna	10.64	42	5	SNP	1.000	A	A	149484529	G	A	149484529	1	1	87	0	1	0	0	0	0	0	0	0	15236	1174	41	3		3	SSPO	7	149484529	RNA	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	22413	149484529	9654134	836	23960											
SSPO	23145	genome.wustl.edu	37	chr7	149501110	149501110	+	RNA	DEL	G	G	-																															ctccaaccctccggcagcctGggggggtgccccgtgtgaag																								rs530953664		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149501110delG	ENST00000378016.2	+	0	8246							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGCAGCCTGGGGGGGTGCC	0.667																																																	0										21,3497		2,17,1740						-0.7	0			8	99,7475		35,29,3723	no	frameshift	SSPO	NM_198455.2		37,46,5463	A1A1,A1R,RR		1.3071,0.5969,1.0819				120,10972						0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149501110delG			Q76B61	RNA	DEL	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.667	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0	100	0	G			149501110	1	tier1		no_errors	ENST00000378016	ensembl	human	known	74_37	rna	8.47	54	5	DEL	0.000	-	-	149501110	G	-	149501110	6	5	87	0	1	1	0	1	0	0	0	0	15236	1357	47	0		0	SSPO	7	149501110	RNA	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	16581	149501110	9637553	837	23961											
ATP6V0E2	155066	genome.wustl.edu	37	chr7	149572717	149572717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgctggtcgccaccgcCgtctgctgttacctcttgta	5	12	9	15	3	2	0	0	0	2	0	3	0	2	0	5	1	3	4	5	1	2	3	rs369744898		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:149572717C>T	ENST00000425642.2	+	2	158	c.135C>T	c.(133-135)gcC>gcT	p.A45A	ATP6V0E2-AS1_ENST00000464939.1_RNA|ATP6V0E2_ENST00000421974.2_Silent_p.A94A|ATP6V0E2_ENST00000464662.1_Silent_p.A45A|ATP6V0E2_ENST00000456496.2_Silent_p.A94A|ATP6V0E2_ENST00000495408.1_3'UTR|ATP6V0E2-AS1_ENST00000488315.1_RNA|ATP6V0E2_ENST00000606024.1_Silent_p.A45A|ATP6V0E2_ENST00000479613.1_Silent_p.A45A|ATP6V0E2-AS1_ENST00000461019.1_RNA			Q8NHE4	VA0E2_HUMAN	ATPase, H+ transporting V0 subunit e2	45					ATP hydrolysis coupled proton transport (GO:0015991)|cell growth (GO:0016049)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	ATPase activity, coupled to transmembrane movement of ions (GO:0042625)|hydrogen ion transmembrane transporter activity (GO:0015078)			lung(1)	1			OV - Ovarian serous cystadenocarcinoma(82;0.00256)			TCGCCACCGCCGTCTGCTGTT	0.562																																																	0								C	,	0,4364		0,0,2182	154	165	161		282,282	-10.1	0.2	7		161	2,8578		0,2,4288	no	coding-synonymous,coding-synonymous	ATP6V0E2	NM_001100592.1,NM_145230.2	,	0,2,6470	TT,TC,CC		0.0233,0.0,0.0155	,	94/214,94/131	149572717	2,12942	2182	4290	6472	SO:0001819	synonymous_variant	0			AK057700	CCDS47742.1, CCDS55181.1	7q36.1	2010-04-21	2006-10-12	2006-10-12	ENSG00000171130	ENSG00000171130		"ATPases / V-type"	21723	protein-coding gene	gene with protein product		611019	"chromosome 7 open reading frame 32", "ATPase, H+ transporting V0 subunit E isoform 2-like (rat)"	C7orf32, ATP6V0E2L			Standard	XM_005249958		Approved		uc003wgs.3	Q8NHE4	OTTHUMG00000158094	ENST00000425642.2:c.135C>T	7.37:g.149572717C>T			A2T863|A2T8L7|B5MDP5|J3KQW7|Q6MZW1|Q75L47|Q7Z4R7|Q8N7I8	Silent	SNP	pfam_ATPase_V0-cplx_e1/e2_su	p.A94	ENST00000425642.2	37	c.282		7																																																																																			ATP6V0E2	-	pfam_ATPase_V0-cplx_e1/e2_su	ENSG00000171130		0.562	ATP6V0E2-010	KNOWN	basic|appris_principal	protein_coding	ATP6V0E2	HGNC	protein_coding	OTTHUMT00000470874.1	-	0	31	0	C	NM_145230		149572717	1	tier1	-	no_errors	ENST00000421974	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.033	T	T	149572717	C	T	149572717	2	4	87	1	0	0	0	0	0	0	0	1	1177	639	23	1		1	ATP6V0E2	7	149572717	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	71607	149572717	9565946	838	23962											
GIMAP1	170575	genome.wustl.edu	37	chr7	150417407	150417407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggagagaggtcactgctaCctgctctcggcccccggacc	7	6	13	15	2	2	1	1	0	1	1	3	5	2	3	4	4	3	2	4	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:150417407C>T	ENST00000307194.5	+	3	455	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	105	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCACTGCTACCTGCTCTCGG	0.632																																																	0													50	45	47					7																	150417407		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"GTPases, IMAP"	23237	protein-coding gene	gene with protein product	"immune-associated nucleotide-binding protein 2"	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.315C>T	7.37:g.150417407C>T			B2RCI3|Q8NAZ0	Silent	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.Y105	ENST00000307194.5	37	c.315	CCDS5906.1	7																																																																																			GIMAP1	-	pfam_AIG1,superfamily_P-loop_NTPase	ENSG00000213203		0.632	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP1	HGNC	protein_coding	OTTHUMT00000348951.2		0	52	0	C	NM_130759		150417407	1			no_errors	ENST00000307194	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.119	T	T	150417407	C	T	150417407	2	4	87	1	0	0	0	0	0	0	0	1	6405	518	18	3		3	GIMAP1	7	150417407	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	844690	150417407	8721256	839	23963											
NOS3	4846	genome.wustl.edu	37	chr7	150693865	150693865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaggagcggctcccaggCccacgaacagcggcttcaag	9	3	12	17	3	1	0	1	0	0	0	2	2	2	1	4	4	3	2	4	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:150693865C>T	ENST00000484524.1	+	4	434	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NOS3_ENST00000461406.1_Intron|NOS3_ENST00000297494.3_Missense_Mutation_p.A145V|NOS3_ENST00000467517.1_Missense_Mutation_p.A145V	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTCCCAGGCCCACGAACAG	0.652																																																	0													13	15	14					7																	150693865		2154	4230	6384	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.434C>T	7.37:g.150693865C>T	ENSP00000420215:p.Ala145Val		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.A145V	ENST00000484524.1	37	c.434	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.376505	0.95945	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.26373	1.74;1.74;1.74	5.13	5.13	0.70059	Nitric oxide synthase, oxygenase domain (3);	0.104705	0.41396	D	0.000882	T	0.37571	0.1008	M	0.77616	2.38	0.52501	D	0.999953	B;B;P;P	0.50066	0.241;0.241;0.931;0.836	B;B;P;B	0.44897	0.092;0.092;0.463;0.142	T	0.43458	-0.9390	10	0.66056	D	0.02	-8.0936	16.0971	0.81132	0.0:1.0:0.0:0.0	.	145;145;145;145	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	V	145	ENSP00000297494:A145V;ENSP00000420215:A145V;ENSP00000420551:A145V	ENSP00000297494:A145V	A	+	2	0	NOS3	150324798	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.945000	0.63568	2.388000	0.81334	0.478000	0.44815	GCC	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000164867		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	-	0	25	0	C	NM_000603		150693865	1	tier1	-	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	150693865	C	T	150693865	3	4	87	1	0	0	0	0	1	0	0	0	10583	739	26	3	448	3	NOS3	7	150693865	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	276458	150693865	8444798	840	23964											
SMARCD3	6604	genome.wustl.edu	37	chr7	150936201	150936201	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctcctaggtgttgcgCacaaccagcgactgctccag	7	9	12	13	2	0	0	0	0	0	0	2	1	2	0	3	2	4	4	3	2	2	3	rs200505047		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:150936201C>T	ENST00000262188.8	-	13	1850	c.1440G>A	c.(1438-1440)gtG>gtA	p.V480V	SMARCD3_ENST00000392811.2_Silent_p.V467V|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000356800.2_Silent_p.V467V	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	480					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTGTTGCGCACAACCAGCG	0.577																																																	0													129	125	126					7																	150936201		2203	4300	6503	SO:0001819	synonymous_variant	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.1440G>A	7.37:g.150936201C>T			D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.V480	ENST00000262188.8	37	c.1440	CCDS34780.1	7																																																																																			SMARCD3	-	NULL	ENSG00000082014		0.577	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	-	0	52	0	C	NM_001003801		150936201	-1	tier1	-	no_errors	ENST00000262188	ensembl	human	known	74_37	silent	18.18	27	6	SNP	1.000	T	T	150936201	C	T	150936201	2	4	87	1	0	0	0	0	0	0	0	1	14824	697	25	3		3	SMARCD3	7	150936201	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	242336	150936201	8202462	841	23965											
GALNTL5	168391	genome.wustl.edu	37	chr7	151680108	151680108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcccgcctcccgactGccagcattgtcatttgcttc	6	10	7	18	2	1	0	1	0	0	0	3	1	2	0	5	0	4	2	5	0	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:151680108G>A	ENST00000392800.2	+	4	660	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	GALNTL5_ENST00000431418.2_Missense_Mutation_p.A136T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	136	Catalytic subdomain A.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCTCCCGACTGCCAGCATTGT	0.438																																																	0													128	119	122					7																	151680108		2203	4300	6503	SO:0001583	missense	0			AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"Glycosyltransferase family 2 domain containing"	21725	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase-like 5"	615133	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.406G>A	7.37:g.151680108G>A	ENSP00000376548:p.Ala136Thr		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.A136T	ENST00000392800.2	37	c.406	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849913	0.71603	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.58652	0.32;0.32	4.65	3.77	0.43336	.	0.000000	0.49305	D	0.000150	T	0.41511	0.1162	L	0.28274	0.84	0.40532	D	0.980943	P	0.47841	0.901	B	0.43052	0.406	T	0.24119	-1.0169	10	0.10902	T	0.67	.	10.8121	0.46553	0.0929:0.0:0.9071:0.0	.	136	Q7Z4T8	GLTL5_HUMAN	T	136	ENSP00000392582:A136T;ENSP00000376548:A136T	ENSP00000376548:A136T	A	+	1	0	GALNTL5	151311041	1.000000	0.71417	0.846000	0.33378	0.041000	0.13682	6.223000	0.72257	1.291000	0.44653	0.555000	0.69702	GCC	GALNTL5	-	NULL	ENSG00000106648		0.438	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	HGNC	protein_coding	OTTHUMT00000348395.1	-	0	49	0	G	NM_145292		151680108	1	tier1	-	no_errors	ENST00000392800	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.944	A	A	151680108	G	A	151680108	3	1	87	1	0	0	0	0	1	0	0	0	6249	1319	46	3	416	3	GALNTL5	7	151680108	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	743907	151680108	7458555	842	23966											
MLL3	58508	genome.wustl.edu	37	chr7	151882652	151882652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaaataccacatatggTgctctttcttgtgagcttgc	9	16	7	9	0	3	1	0	1	3	0	3	1	3	1	1	1	4	2	1	1	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:151882652T>C	ENST00000262189.6	-	34	5291	c.5073A>G	c.(5071-5073)gcA>gcG	p.A1691A	KMT2C_ENST00000355193.2_Silent_p.A1691A	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1691					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CCACATATGGTGCTCTTTCTT	0.313																																																	0													140	120	127					7																	151882652		2202	4300	6502	SO:0001819	synonymous_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5073A>G	7.37:g.151882652T>C			Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A1691	ENST00000262189.6	37	c.5073	CCDS5931.1	7																																																																																			KMT2C	-	superfamily_HMG_box_dom,smart_HMG_box_dom	ENSG00000055609		0.313	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KMT2C	HGNC	protein_coding	OTTHUMT00000318887.3	-	0	55	0	T			151882652	-1	tier1	-	no_errors	ENST00000355193	ensembl	human	known	74_37	silent	30.77	54	24	SNP	0.985	C	C	151882652	T	C	151882652	2	2	87	1	0	0	0	0	0	0	0	1	9660	1683	59	4		4	MLL3	7	151882652	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	202544	151882652	7256011	843	23967											
ACTR3B	57180	genome.wustl.edu	37	chr7	152549324	152549324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgaggagctcagcggCgggaggatcaaggtaggagc	10	4	18	9	3	3	0	3	0	0	0	3	5	3	4	0	6	4	2	0	6	2	1	rs144915052	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:152549324C>T	ENST00000256001.8	+	10	1199	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	ACTR3B_ENST00000537264.1_Silent_p.G267G|ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Silent_p.G267G	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	355						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		AGCTCAGCGGCGGGAGGATCA	0.632													C|||	7	0.00139776	0.0023	0.0043	5008	,	,		15197	0		0	False		,,,				2504	0.001																0								C	,	10,4396	17.9+/-39.9	0,10,2193	76	74	75		,1065	-9.3	0.1	7	dbSNP_134	75	0,8600		0,0,4300	no	intron,coding-synonymous	ACTR3B	NM_001040135.1,NM_020445.4	,	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,	,355/419	152549324	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1065C>T	7.37:g.152549324C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	pfam_Actin-related,smart_Actin-related	p.G355	ENST00000256001.8	37	c.1065	CCDS5934.1	7																																																																																			ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.632	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0	50	0	C	NM_020445		152549324	1	tier1	rs144915052	no_errors	ENST00000256001	ensembl	human	known	74_37	silent	22.45	38	11	SNP	0.114	T	T	152549324	C	T	152549324	2	4	87	1	0	0	0	0	0	0	0	1	213	755	27	1		1	ACTR3B	7	152549324	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	666672	152549324	6589339	844	23968											
ACTR3B	57180	genome.wustl.edu	37	chr7	152550626	152550626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcatcacatgcagcgctaCgccgtgtggttcggaggctc	7	8	13	13	5	1	0	1	0	0	0	3	1	1	1	1	3	3	5	1	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:152550626C>T	ENST00000256001.8	+	11	1259	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	ACTR3B_ENST00000537264.1_Silent_p.Y287Y|ACTR3B_ENST00000377776.3_Intron|ACTR3B_ENST00000397282.2_Silent_p.Y287Y	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	375						cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		TGCAGCGCTACGCCGTGTGGT	0.567																																																	0													185	108	134					7																	152550626		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5934.1, CCDS34782.1	7q36.1	2010-07-20			ENSG00000133627	ENSG00000133627			17256	protein-coding gene	gene with protein product						10806390	Standard	NM_001040135		Approved	ARP11, ARP3beta	uc003wle.2	Q9P1U1	OTTHUMG00000151463	ENST00000256001.8:c.1125C>T	7.37:g.152550626C>T			A8MTG1|B4DFW4|Q7Z526|Q96BT2	Silent	SNP	pfam_Actin-related,smart_Actin-related	p.Y375	ENST00000256001.8	37	c.1125	CCDS5934.1	7																																																																																			ACTR3B	-	pfam_Actin-related,smart_Actin-related	ENSG00000133627		0.567	ACTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR3B	HGNC	protein_coding	OTTHUMT00000322803.1	-	0	27	0	C	NM_020445		152550626	1	tier1	-	no_errors	ENST00000256001	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.930	T	T	152550626	C	T	152550626	2	4	87	1	0	0	0	0	0	0	0	1	213	547	19	1		1	ACTR3B	7	152550626	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1302	152550626	6588037	845	23969											
RBM33	155435	genome.wustl.edu	37	chr7	155504069	155504070	+	Frame_Shift_Ins	INS	-	-	T																															ccaaggatgatgatgaccccINSgccacccgtgactccacagc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:155504069_155504070insT	ENST00000401878.3	+	8	1319_1320	c.1121_1122insT	c.(1120-1125)ccgccafs	p.P375fs	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	375	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGATGACCCCGCCACCCGTGA	0.589																																																	0																																										SO:0001589	frameshift_variant	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	Exception_encountered	7.37:g.155504069_155504070insT	ENSP00000384160:p.Pro375fs		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Ins	INS	smart_RRM_dom	p.P375fs	ENST00000401878.3	37	c.1121_1122	CCDS5941.2	7																																																																																			RBM33	-	NULL	ENSG00000184863		0.589	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3		0	92	0	0	NM_001008408		155504070	1			no_errors	ENST00000401878	ensembl	human	known	74_37	frame_shift_ins	8.89	82	8	INS	0.998:0.029	T	T	155504070	-	T	155504069	7	5	87	1	0	1	1	0	0	0	0	0	13175	652	23	0	1151	0	RBM33	7	155504069	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2953443	155504069	3634594	846	23970											
UBE3C	9690	genome.wustl.edu	37	chr7	156963108	156963109	+	Frame_Shift_Ins	INS	-	-	T																															ttttggtaaggcagcttctgINStttttttacaaacaaaatga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:156963108_156963109insT	ENST00000348165.5	+	4	666_667	c.306_307insT	c.(307-309)tttfs	p.F103fs	UBE3C_ENST00000389103.4_Frame_Shift_Ins_p.F60fs	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	103					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GGCAGCTTCTGTTTTTTTACAA	0.421																																																	0																																										SO:0001589	frameshift_variant	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.313dupT	7.37:g.156963115_156963115dupT	ENSP00000309198:p.Phe103fs		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.Y104fs	ENST00000348165.5	37	c.306_307	CCDS34789.1	7																																																																																			UBE3C	-	NULL	ENSG00000009335		0.421	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1		0	49	0	-	NM_014671		156963109	1	tier1		no_errors	ENST00000348165	ensembl	human	known	74_37	frame_shift_ins	21.82	43	12	INS	1.000:1.000	T	T	156963109	-	T	156963108	7	5	87	1	0	1	1	0	0	0	0	0	16930	1364	48	0	320	0	UBE3C	7	156963108	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1459039	156963108	2175555	847	23971											
UBE3C	9690	genome.wustl.edu	37	chr7	156994495	156994495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgtcaacacggatgaTcacagggtatgtattataca	13	12	8	8	1	2	1	2	1	0	0	3	2	3	2	1	2	2	2	1	2	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:156994495T>C	ENST00000348165.5	+	11	1772	c.1412T>C	c.(1411-1413)aTc>aCc	p.I471T		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	471					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACACGGATGATCACAGGGTAT	0.388																																																	0													140	126	131					7																	156994495		2203	4300	6503	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1412T>C	7.37:g.156994495T>C	ENSP00000309198:p.Ile471Thr		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.I471T	ENST00000348165.5	37	c.1412	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167947	0.78339	.	.	ENSG00000009335	ENST00000348165	T	0.44083	0.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.63428	1.95	0.80722	D	1	P;B	0.45634	0.863;0.001	B;B	0.41236	0.351;0.001	T	0.31668	-0.9935	10	0.14252	T	0.57	-26.9096	15.923	0.79590	0.0:0.0:0.0:1.0	.	471;471	Q15386;Q15386-2	UBE3C_HUMAN;.	T	471	ENSP00000309198:I471T	ENSP00000309198:I471T	I	+	2	0	UBE3C	156687256	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	4.472000	0.60189	2.166000	0.68216	0.443000	0.29094	ATC	UBE3C	-	NULL	ENSG00000009335		0.388	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	-	0	42	0	T	NM_014671		156994495	1	tier1	-	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	C	C	156994495	T	C	156994495	3	2	87	1	0	0	0	0	1	0	0	0	16930	1435	50	4	1454	4	UBE3C	7	156994495	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	31387	156994495	2144168	848	23972											
DNAJB6	10049	genome.wustl.edu	37	chr7	157208759	157208761	+	In_Frame_Del	DEL	GAA	GAA	-																															cagaagcagagagaggagtcGaagaagaagaagtcgaccaa																								rs565527346	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr7:157208759_157208761delGAA	ENST00000262177.4	+	10	1153_1155	c.948_950delGAA	c.(946-951)tcgaag>tcg	p.K320del	DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000452797.2_In_Frame_Del_p.K271del|DNAJB6_ENST00000443280.1_In_Frame_Del_p.K205del	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	320					intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		gagaggagtcgaagaagaagaag	0.557																																					Esophageal Squamous(46;195 967 1350 20350 43814)												0										1,4263		0,1,2131						0.2	0.7			125	2,8252		0,2,4125	no	coding	DNAJB6	NM_058246.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001651	inframe_deletion	0			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"Heat shock proteins / DNAJ (HSP40)"	14888	protein-coding gene	gene with protein product		611332	"limb girdle muscular dystrophy 1D (autosomal dominant)"	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.948_950delGAA	7.37:g.157208768_157208770delGAA	ENSP00000262177:p.Lys320del		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	In_Frame_Del	DEL	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K320in_frame_del	ENST00000262177.4	37	c.948_950	CCDS5946.1	7																																																																																			DNAJB6	-	NULL	ENSG00000105993		0.557	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2		0	49	0	GAA			157208761	1	tier1		no_errors	ENST00000262177	ensembl	human	known	74_37	in_frame_del	33.33	32	16	DEL	0.982:1.000:1.000	-	-	157208761	GAA	-	157208759	7	5	87	1	0	1	0	1	0	0	0	0	4638	1045	37	0	1017	0	DNAJB6	7	157208759	In_Frame_Del	DEL	GAA	TCGA-L5-A8NM-01A-11D-A37C-09	214264	157208759	1929904	849	23973											
OR4F21	441308	genome.wustl.edu	37	chr8	116995	116996	+	Frame_Shift_Ins	INS	-	-	G																															gtcccagaaacaaaaactcaINSgataccactgagtgattctc																								rs563787219	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116995_116996insG	ENST00000320901.3	-	1	47_48	c.29_30insC	c.(28-30)tctfs	p.S10fs		NM_001005504.1	NP_001005504.1	O95013	O4F21_HUMAN	olfactory receptor, family 4, subfamily F, member 21	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						all_cancers(2;8.42e-24)|all_epithelial(2;5.38e-15)|Lung NSC(2;2.68e-06)|all_lung(2;5.05e-06)|Ovarian(12;0.0731)|Colorectal(14;0.0785)|all_hematologic(2;0.157)|Myeloproliferative disorder(644;0.185)|all_neural(12;0.186)|Acute lymphoblastic leukemia(644;0.244)		Epithelial(5;5.01e-18)|all cancers(2;6.06e-17)|OV - Ovarian serous cystadenocarcinoma(5;8.27e-09)|BRCA - Breast invasive adenocarcinoma(11;1.63e-06)|Colorectal(2;5.31e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0649)		ACAAAAACTCAGATACCACTGA	0.441													|||unknown(NO_COVERAGE)	15	0.00299521	0.0015	0.0058	5008	,	,		10220	0.0069		0	False		,,,				2504	0.002																0																																										SO:0001589	frameshift_variant	0				CCDS34792.1	8p23.3	2012-08-09		2004-03-10	ENSG00000176269	ENSG00000176269		"GPCR / Class A : Olfactory receptors"	19583	protein-coding gene	gene with protein product				OR4F21P			Standard	NM_001005504		Approved		uc011kwf.2	O95013	OTTHUMG00000163908	ENST00000320901.3:c.30dupC	8.37:g.116996_116996dupG	ENSP00000318878:p.Ser10fs		A6NIU1	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E11fs	ENST00000320901.3	37	c.30_29	CCDS34792.1	8																																																																																			OR4F21	-	NULL	ENSG00000176269		0.441	OR4F21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F21	HGNC	protein_coding	OTTHUMT00000376340.1		0	58	0	-			116996	-1	tier1		no_errors	ENST00000320901	ensembl	human	known	74_37	frame_shift_ins	6.45	58	4	INS	0.272:0.213	G	G	116996	-	G	116995	7	5	87	1	0	1	1	0	0	0	0	0	11102	175	7	0	910	0	OR4F21	8	116995	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09		116995	146247027	850	23974											
CSMD1	64478	genome.wustl.edu	37	chr8	3019724	3019724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggaaggagagcacgtcgTtcaccatgtaccgatctccg	10	8	11	12	4	2	1	1	0	1	1	4	4	2	2	3	2	2	3	3	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:3019724T>C	ENST00000520002.1	-	39	6359	c.5804A>G	c.(5803-5805)aAc>aGc	p.N1935S	CSMD1_ENST00000542608.1_Missense_Mutation_p.N1934S|CSMD1_ENST00000539096.1_Missense_Mutation_p.N1934S|CSMD1_ENST00000602723.1_Missense_Mutation_p.N1935S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1935S|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1934S|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1935S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1935	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGCACGTCGTTCACCATGTA	0.512																																																	0																																										SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5804A>G	8.37:g.3019724T>C	ENSP00000430733:p.Asn1935Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.N1935S	ENST00000520002.1	37	c.5804		8	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760083	0.69763	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	5.38	5.38	0.77491	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.72835	0.3510	L	0.45137	1.4	0.54753	D	0.999989	D;D;D;B	0.69078	0.997;0.97;0.997;0.196	D;D;D;B	0.80764	0.994;0.976;0.93;0.244	T	0.75328	-0.3356	10	0.66056	D	0.02	.	15.331	0.74212	0.0:0.0:0.0:1.0	.	1935;1935;1934;1935	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	S	1935;1935;1796;1934;1934;1934	ENSP00000383047:N1935S;ENSP00000430733:N1935S;ENSP00000441462:N1934S;ENSP00000446243:N1934S;ENSP00000441675:N1934S	ENSP00000320445:N1796S	N	-	2	0	CSMD1	3007131	1.000000	0.71417	0.986000	0.45419	0.424000	0.31475	7.263000	0.78421	2.152000	0.67230	0.533000	0.62120	AAC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	61	0	T	NM_033225		3019724	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	C	C	3019724	T	C	3019724	3	2	87	1	0	0	0	0	1	0	0	0	3953	1725	60	4	5025	4	CSMD1	8	3019724	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2902729	3019724	143344298	851	23975											
MCPH1	79648	genome.wustl.edu	37	chr8	6289044	6289044	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagctggagcacacatTgatgaatcattgttccctgc	11	10	10	10	0	1	2	1	2	0	0	2	4	2	4	1	2	3	3	1	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:6289044T>C	ENST00000344683.5	+	4	334	c.258T>C	c.(256-258)atT>atC	p.I86I	MCPH1_ENST00000519480.1_Silent_p.I86I|MCPH1_ENST00000522905.1_Silent_p.I86I	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	86	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAGCACACATTGATGAATCAT	0.328																																					Colon(95;1448 1467 8277 34473 35819)												0													135	132	133					8																	6289044		1860	4099	5959	SO:0001819	synonymous_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.258T>C	8.37:g.6289044T>C			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Silent	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.I86	ENST00000344683.5	37	c.258	CCDS43689.1	8																																																																																			MCPH1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000147316		0.328	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	-	0	39	0	T	NM_024596		6289044	1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	silent	26.83	30	11	SNP	0.001	C	C	6289044	T	C	6289044	2	2	87	1	0	0	0	0	0	0	0	1	9436	1800	63	4		4	MCPH1	8	6289044	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3269320	6289044	140074978	852	23976											
RP1L1	94137	genome.wustl.edu	37	chr8	10470049	10470049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggccctcggtgtcaggCggccgccttgctctgggccg	1	8	16	16	5	2	0	1	0	1	0	4	0	3	0	5	5	1	1	5	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:10470049C>T	ENST00000382483.3	-	4	1782	c.1559G>A	c.(1558-1560)cGc>cAc	p.R520H		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	520					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGTGTCAGGCGGCCGCCTTG	0.692																																																	0													27	32	30					8																	10470049		1946	4110	6056	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1559G>A	8.37:g.10470049C>T	ENSP00000371923:p.Arg520His		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R520H	ENST00000382483.3	37	c.1559	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	11.87	1.767351	0.31320	.	.	ENSG00000183638	ENST00000382483	T	0.04809	3.55	4.05	2.15	0.27550	.	.	.	.	.	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	D	0.60160	0.987	P	0.45037	0.467	T	0.42932	-0.9422	9	0.52906	T	0.07	0.0687	5.4588	0.16606	0.0:0.6779:0.2058:0.1163	.	520	A6NKC6	.	H	520	ENSP00000371923:R520H	ENSP00000371923:R520H	R	-	2	0	RP1L1	10507459	0.001000	0.12720	0.003000	0.11579	0.141000	0.21300	0.398000	0.20899	0.278000	0.22164	0.305000	0.20034	CGC	RP1L1	-	NULL	ENSG00000183638		0.692	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	37	0	C			10470049	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.154	T	T	10470049	C	T	10470049	3	4	87	1	0	0	0	0	1	0	0	0	13578	768	27	1	5647	1	RP1L1	8	10470049	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4181005	10470049	135893973	853	23977											
BLK	640	genome.wustl.edu	37	chr8	11400805	11400805	+	Frame_Shift_Del	DEL	C	C	-																															aaggacaagggccaatggagCcccctgaaggtcagcgccca																								rs138428717	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:11400805delC	ENST00000259089.4	+	2	664	c.72delC	c.(70-72)agcfs	p.S24fs	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	24					B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GCCAATGGAGCCCCCTGAAGG	0.572																																																	0													73	76	75					8																	11400805		2203	4300	6503	SO:0001589	frameshift_variant	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"SH2 domain containing"	1057	protein-coding gene	gene with protein product		191305	"B lymphoid tyrosine kinase"			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.72delC	8.37:g.11400805delC	ENSP00000259089:p.Ser24fs		Q16291|Q96IN1	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.L26fs	ENST00000259089.4	37	c.72	CCDS5982.1	8																																																																																			BLK	-	NULL	ENSG00000136573		0.572	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1		0	41	0	C			11400805	1	tier1		no_errors	ENST00000259089	ensembl	human	known	74_37	frame_shift_del	8.11	34	3	DEL	0.906	-	-	11400805	C	-	11400805	7	5	87	1	0	1	0	1	0	0	0	0	1446	738	26	0	74	0	BLK	8	11400805	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	930756	11400805	134963217	854	23978											
TUSC3	7991	genome.wustl.edu	37	chr8	15508230	15508230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctaatgaagaatatcaaatActggcgaactcctggcgcta	14	9	9	9	2	1	2	1	1	0	1	2	3	2	2	1	2	2	2	1	2	8	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:15508230A>G	ENST00000503731.1	+	3	481	c.333A>G	c.(331-333)atA>atG	p.I111M	TUSC3_ENST00000506802.1_Missense_Mutation_p.I111M|TUSC3_ENST00000382020.4_Missense_Mutation_p.I111M|TUSC3_ENST00000509380.1_Missense_Mutation_p.I111M|TUSC3_ENST00000503191.1_Intron	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	111	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AATATCAAATACTGGCGAACT	0.398																																																	0													218	211	213					8																	15508230		2203	4300	6503	SO:0001583	missense	0			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.333A>G	8.37:g.15508230A>G	ENSP00000424544:p.Ile111Met		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.I111M	ENST00000503731.1	37	c.333	CCDS5994.1	8	.	.	.	.	.	.	.	.	.	.	A	15.91	2.971521	0.53614	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.6	-3.82	0.04281	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.048483	0.85682	D	0.000000	T	0.56124	0.1964	M	0.85041	2.73	0.43271	D	0.995222	B;P;B;D;P;D	0.58268	0.321;0.872;0.039;0.982;0.872;0.966	B;P;B;D;P;P	0.66351	0.113;0.824;0.029;0.943;0.824;0.837	T	0.58504	-0.7625	10	0.54805	T	0.06	-21.5514	6.7843	0.23665	0.1378:0.6336:0.1091:0.1195	.	111;111;111;111;111;111	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	M	111	ENSP00000371450:I111M;ENSP00000425777:I111M;ENSP00000423426:I111M;ENSP00000424544:I111M	ENSP00000221167:I111M	I	+	3	3	TUSC3	15552601	0.546000	0.26457	0.991000	0.47740	0.992000	0.81027	-0.226000	0.09139	-0.413000	0.07507	0.533000	0.62120	ATA	TUSC3	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000104723		0.398	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TUSC3	HGNC	protein_coding	OTTHUMT00000365367.1	-	0	74	0	A	NM_006765		15508230	1	tier1	-	no_errors	ENST00000503731	ensembl	human	known	74_37	missense	7.35	63	5	SNP	0.992	G	G	15508230	A	G	15508230	3	3	87	1	0	0	0	0	1	0	0	0	16827	381	14	4	343	4	TUSC3	8	15508230	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4107425	15508230	130855792	855	23979											
MSR1	4481	genome.wustl.edu	37	chr8	15978079	15978079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccctcccctcgtgagggCcgctcccaccgaccagtcga	6	5	9	21	4	0	1	0	1	0	0	4	3	2	1	8	1	0	1	8	1	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:15978079C>T	ENST00000262101.5	-	9	1191	c.1070G>A	c.(1069-1071)gGc>gAc	p.G357D	MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.G375D|MSR1_ENST00000355282.2_Intron			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	357	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTCGTGAGGGCCGCTCCCACC	0.478																																																	0													72	74	73					8																	15978079		2203	4300	6503	SO:0001583	missense	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1070G>A	8.37:g.15978079C>T	ENSP00000262101:p.Gly357Asp		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.G357D	ENST00000262101.5	37	c.1070	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365375	0.41902	.	.	ENSG00000038945	ENST00000262101;ENST00000445506	D;T	0.97186	-4.28;1.59	4.84	2.96	0.34315	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.191992	0.25798	N	0.028232	D	0.95313	0.8479	L	0.35854	1.095	0.80722	D	1	D;D	0.58620	0.983;0.967	P;P	0.57057	0.812;0.812	D	0.92469	0.5984	10	0.46703	T	0.11	.	3.9351	0.09302	0.1712:0.5742:0.1653:0.0892	.	375;357	B4DDJ5;P21757	.;MSRE_HUMAN	D	357;375	ENSP00000262101:G357D;ENSP00000405453:G375D	ENSP00000262101:G357D	G	-	2	0	MSR1	16022450	0.000000	0.05858	0.057000	0.19452	0.112000	0.19704	-0.455000	0.06762	0.665000	0.31066	0.655000	0.94253	GGC	MSR1	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR	ENSG00000038945		0.478	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2		0	44	0	C			15978079	-1			no_errors	ENST00000262101	ensembl	human	known	74_37	missense	11.11	48	6	SNP	0.621	T	T	15978079	C	T	15978079	3	4	87	1	0	0	0	0	1	0	0	0	9924	739	26	3	293	3	MSR1	8	15978079	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	469849	15978079	130385943	856	23980											
EFHA2	286097	genome.wustl.edu	37	chr8	16948074	16948074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtcttcaactttatggatAccattctcctactaatagtg	10	15	6	10	1	3	0	1	0	2	0	4	1	3	1	2	1	3	0	2	1	6	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:16948074A>G	ENST00000318063.5	+	8	911	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_181723.2	NP_859074.1	Q86XE3	MICU3_HUMAN	mitochondrial calcium uptake family, member 3	290						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)										CTTTATGGATACCATTCTCCT	0.323																																																	0													236	242	240					8																	16948074		2203	4299	6502	SO:0001583	missense	0			BC032868	CCDS5999.1	8p22	2013-03-26	2013-03-26	2013-03-14	ENSG00000155970	ENSG00000155970		"EF-hand domain containing"	27820	protein-coding gene	gene with protein product		610633	"EF hand domain family A2", "EF-hand domain family, member A2"	EFHA2		23409044	Standard	NM_181723		Approved	DKFZp313A0139	uc003wxd.2	Q86XE3	OTTHUMG00000096965	ENST00000318063.5:c.869A>G	8.37:g.16948074A>G	ENSP00000321455:p.Tyr290Cys		Q8IYZ3	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.Y290C	ENST00000318063.5	37	c.869	CCDS5999.1	8	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078372	0.55753	.	.	ENSG00000155970	ENST00000318063	T	0.47177	0.85	5.1	3.87	0.44632	.	0.147945	0.46442	D	0.000294	T	0.55401	0.1918	L	0.51422	1.61	0.58432	D	0.999999	D	0.69078	0.997	P	0.59012	0.85	T	0.55958	-0.8058	10	0.46703	T	0.11	-0.998	11.7805	0.52010	0.8687:0.0:0.0:0.1313	.	290	Q86XE3	EFHA2_HUMAN	C	290	ENSP00000321455:Y290C	ENSP00000321455:Y290C	Y	+	2	0	EFHA2	16992445	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.639000	0.54339	2.068000	0.61886	0.477000	0.44152	TAC	MICU3	-	NULL	ENSG00000155970		0.323	MICU3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICU3	HGNC	protein_coding	OTTHUMT00000214031.1	-	0	63	0	A	NM_181723		16948074	1	tier1	-	no_errors	ENST00000318063	ensembl	human	known	74_37	missense	16.13	78	15	SNP	1.000	G	G	16948074	A	G	16948074	3	3	87	1	0	0	0	0	1	0	0	0	4958	391	14	4	899	4	EFHA2	8	16948074	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	969995	16948074	129415948	857	23981											
HR	55806	genome.wustl.edu	37	chr8	21984704	21984704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccattgctccctggacctcGgggctgcctgcccttttgag	3	11	11	16	1	0	1	0	1	0	0	2	2	1	2	5	3	3	2	5	3	0	3	rs146491425	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:21984704G>A	ENST00000381418.4	-	3	2731	c.1251C>T	c.(1249-1251)ccC>ccT	p.P417P	HR_ENST00000312841.8_Silent_p.P417P	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	417					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTGGACCTCGGGGCTGCCTG	0.682																																																	0								G	,	0,4404		0,0,2202	47	57	54		1251,1251	-9.6	0.1	8	dbSNP_134	54	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	HR	NM_005144.4,NM_018411.4	,	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	,	417/1190,417/1135	21984704	2,12992	2202	4295	6497	SO:0001819	synonymous_variant	0			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1251C>T	8.37:g.21984704G>A			Q6GS30|Q96H33|Q9NPE1	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P417	ENST00000381418.4	37	c.1251	CCDS6022.1	8																																																																																			HR	-	NULL	ENSG00000168453		0.682	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	HGNC	protein_coding	OTTHUMT00000214213.1	-	0	41	0	G			21984704	-1	tier1	rs146491425	no_errors	ENST00000381418	ensembl	human	known	74_37	silent	12.90	54	8	SNP	0.192	A	A	21984704	G	A	21984704	2	1	87	1	0	0	0	0	0	0	0	1	7374	1103	39	1		1	HR	8	21984704	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5036630	21984704	124379318	858	23982											
POLR3D	661	genome.wustl.edu	37	chr8	22105405	22105405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcaagaaggagaagcGtgaaagggacagagaccgac	17	3	14	7	2	1	4	1	1	0	3	1	8	1	5	1	2	2	0	1	2	5	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22105405G>A	ENST00000397802.4	+	3	460	c.245G>A	c.(244-246)cGt>cAt	p.R82H	MIR320A_ENST00000385302.1_RNA|POLR3D_ENST00000306433.4_Missense_Mutation_p.R82H			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	82					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AAGGAGAAGCGTGAAAGGGAC	0.522																																																	0													123	116	119					8																	22105405		2203	4300	6503	SO:0001583	missense	0			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"RNA polymerase subunits"	1080	protein-coding gene	gene with protein product		187280	"BN51 (BHK21) temperature sensitivity complementing"	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.245G>A	8.37:g.22105405G>A	ENSP00000380904:p.Arg82His		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	pfam_RPC4	p.R82H	ENST00000397802.4	37	c.245	CCDS34858.1	8	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946277	0.53079	.	.	ENSG00000168495	ENST00000306433;ENST00000519237;ENST00000397802	.	.	.	5.99	5.99	0.97316	.	0.209804	0.49305	D	0.000144	T	0.58821	0.2149	L	0.59436	1.845	0.53688	D	0.999971	B	0.11235	0.004	B	0.08055	0.003	T	0.54248	-0.8322	9	0.46703	T	0.11	-4.3896	13.2316	0.59947	0.0757:0.0:0.9243:0.0	.	82	P05423	RPC4_HUMAN	H	82	.	ENSP00000303088:R82H	R	+	2	0	POLR3D	22161350	1.000000	0.71417	0.996000	0.52242	0.822000	0.46500	2.304000	0.43655	2.840000	0.97914	0.655000	0.94253	CGT	POLR3D	-	NULL	ENSG00000168495		0.522	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3D	HGNC	protein_coding	OTTHUMT00000375434.2	-	0	41	0	G	NM_001722		22105405	1	tier1	-	no_errors	ENST00000397802	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.998	A	A	22105405	G	A	22105405	3	1	87	1	0	0	0	0	1	0	0	0	12270	1145	40	1	255	1	POLR3D	8	22105405	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	120701	22105405	124258617	859	23983											
PDLIM2	64236	genome.wustl.edu	37	chr8	22442382	22442382	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggggacagctccttggaAgtgctggcgactcgcttcca	8	9	13	11	2	0	0	0	0	0	0	3	3	2	2	2	4	2	3	2	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22442382A>T	ENST00000397760.4	+	4	694	c.294A>T	c.(292-294)gaA>gaT	p.E98D	PDLIM2_ENST00000409417.1_Missense_Mutation_p.E98D|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Missense_Mutation_p.E98D|PDLIM2_ENST00000308354.7_Missense_Mutation_p.E348D|PDLIM2_ENST00000265810.4_Missense_Mutation_p.E98D|PDLIM2_ENST00000397761.2_Missense_Mutation_p.E98D|PDLIM2_ENST00000409141.1_Missense_Mutation_p.E98D			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	98						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GCTCCTTGGAAGTGCTGGCGA	0.632																																																	0													133	104	114					8																	22442382		2203	4300	6503	SO:0001583	missense	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.294A>T	8.37:g.22442382A>T	ENSP00000380867:p.Glu98Asp		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.E348D	ENST00000397760.4	37	c.1044		8	.	.	.	.	.	.	.	.	.	.	A	14.23	2.472054	0.43942	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77;2.77	5.07	-4.5	0.03493	.	0.286276	0.31519	N	0.007514	T	0.06600	0.0169	L	0.45581	1.43	0.33369	D	0.573372	B;B;B;B	0.24043	0.016;0.096;0.004;0.009	B;B;B;B	0.22152	0.024;0.038;0.007;0.011	T	0.29941	-0.9995	10	0.20046	T	0.44	-9.003	5.6323	0.17518	0.3233:0.2947:0.382:0.0	.	98;98;98;98	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	D	98;348;98;98;98;98;98;98;98;98;98;98;98	ENSP00000401992:E98D;ENSP00000312634:E348D;ENSP00000394376:E98D;ENSP00000380867:E98D;ENSP00000342035:E98D;ENSP00000380868:E98D;ENSP00000397738:E98D;ENSP00000392920:E98D;ENSP00000407643:E98D;ENSP00000386868:E98D;ENSP00000265810:E98D;ENSP00000387084:E98D	ENSP00000265810:E98D	E	+	3	2	PDLIM2	22498327	0.029000	0.19370	0.942000	0.38095	0.682000	0.39822	-0.550000	0.06034	-0.549000	0.06191	-0.326000	0.08463	GAA	PDLIM2	-	NULL	ENSG00000120913		0.632	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	-	0	69	0	A			22442382	1	tier1	-	no_errors	ENST00000308354	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.846	T	T	22442382	A	T	22442382	3	4	87	1	0	0	0	0	1	0	0	0	11719	69	3	5	304	5	PDLIM2	8	22442382	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	336977	22442382	123921640	860	23984											
KIAA1967	57805	genome.wustl.edu	37	chr8	22470553	22470553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactatgactccaagaaacGcaaacagcgggctggtggag	13	6	13	9	2	0	3	0	2	0	1	1	4	1	4	1	3	3	2	1	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22470553G>A	ENST00000308511.4	+	8	857	c.608G>A	c.(607-609)cGc>cAc	p.R203H	CCAR2_ENST00000389279.3_Missense_Mutation_p.R203H|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000520861.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	203					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TCCAAGAAACGCAAACAGCGG	0.483																																																	0													113	94	100					8																	22470553		2203	4300	6503	SO:0001583	missense	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.608G>A	8.37:g.22470553G>A	ENSP00000310670:p.Arg203His		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.R203H	ENST00000308511.4	37	c.608	CCDS34863.1	8	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019678	0.93462	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000522599	T;T;T	0.56103	1.3;1.3;0.48	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	T	0.63988	0.2558	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.62812	-0.6775	10	0.54805	T	0.06	-18.089	17.4969	0.87720	0.0:0.0:1.0:0.0	.	203	Q8N163	K1967_HUMAN	H	203;203;21	ENSP00000310670:R203H;ENSP00000373930:R203H;ENSP00000429739:R21H	ENSP00000310670:R203H	R	+	2	0	KIAA1967	22526498	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.197000	0.65141	2.941000	0.99782	0.655000	0.94253	CGC	CCAR2	-	NULL	ENSG00000158941		0.483	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR2	HGNC	protein_coding	OTTHUMT00000375865.1	-	0	79	0	G	NM_021174		22470553	1	tier1	-	no_errors	ENST00000308511	ensembl	human	known	74_37	missense	11.39	70	9	SNP	1.000	A	A	22470553	G	A	22470553	3	1	87	1	0	0	0	0	1	0	0	0	8292	1087	38	1	634	1	KIAA1967	8	22470553	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	28171	22470553	123893469	861	23985											
RHOBTB2	23221	genome.wustl.edu	37	chr8	22862121	22862121	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtatgggccatcgaccaAtatcgtgtgtgccaggaggt	10	9	13	9	2	0	0	0	0	0	0	2	2	0	1	3	3	1	1	3	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:22862121A>G	ENST00000251822.6	+	2	711	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Silent_p.Q65Q|RHOBTB2_ENST00000519685.1_Silent_p.Q80Q|RHOBTB2_ENST00000523918.1_3'UTR|RP11-875O11.1_ENST00000523884.1_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	58	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCATCGACCAATATCGTGTGT	0.612											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61	54	56					8																	22862121		2203	4300	6503	SO:0001819	synonymous_variant	0			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"BTB/POZ domain containing"	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.174A>G	8.37:g.22862121A>G		759	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.Q58	ENST00000251822.6	37	c.174	CCDS6034.1	8																																																																																			RHOBTB2	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000008853		0.612	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RHOBTB2	HGNC	protein_coding	OTTHUMT00000215101.2	-	0	32	0	A			22862121	1	tier1	-	no_errors	ENST00000251822	ensembl	human	known	74_37	silent	14.29	30	5	SNP	1.000	G	G	22862121	A	G	22862121	2	3	87	1	0	0	0	0	0	0	0	1	13379	98	4	4		4	RHOBTB2	8	22862121	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	391568	22862121	123501901	862	23986											
PNMA2	10687	genome.wustl.edu	37	chr8	26365709	26365709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctttgactatctccgtgGcctgttccaaccagacctca	8	12	6	15	1	3	2	1	1	2	1	5	2	4	2	5	1	1	1	5	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:26365709G>A	ENST00000522362.2	-	3	1457	c.563C>T	c.(562-564)gCc>gTc	p.A188V	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	188					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tatctccgtggcctgttccaa	0.572																																																	0													72	73	73					8																	26365709		2203	4300	6503	SO:0001583	missense	0				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"Paraneoplastic Ma antigens"	9159	protein-coding gene	gene with protein product		603970	"paraneoplastic antigen MA2"			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.563C>T	8.37:g.26365709G>A	ENSP00000429344:p.Ala188Val		B3KNY9|O94959|O95145|Q49A18|Q9UL43	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom	p.A188V	ENST00000522362.2	37	c.563	CCDS34868.1	8	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287742	0.23478	.	.	ENSG00000240694	ENST00000522362	T	0.11712	2.75	4.22	3.35	0.38373	.	.	.	.	.	T	0.05456	0.0144	N	0.11698	0.16	0.31621	N	0.650314	B	0.14012	0.009	B	0.10450	0.005	T	0.26815	-1.0092	9	0.11794	T	0.64	-24.4819	8.0437	0.30536	0.109:0.0:0.891:0.0	.	188	Q9UL42	PNMA2_HUMAN	V	188	ENSP00000429344:A188V	ENSP00000429344:A188V	A	-	2	0	PNMA2	26421626	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	2.296000	0.43584	1.376000	0.46267	0.655000	0.94253	GCC	PNMA2	-	NULL	ENSG00000240694		0.572	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	-	0	34	0	G	NM_007257		26365709	-1	tier1	-	no_errors	ENST00000522362	ensembl	human	known	74_37	missense	20.75	42	11	SNP	1.000	A	A	26365709	G	A	26365709	3	1	87	1	0	0	0	0	1	0	0	0	12193	1203	42	3	535	3	PNMA2	8	26365709	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3503588	26365709	119998313	863	23987											
CHRNA2	1135	genome.wustl.edu	37	chr8	27324753	27324753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggcttcctacttgttgtAgagaacaatgtcggggatcc	10	12	11	8	1	0	1	0	0	0	1	3	3	2	2	2	3	2	3	2	3	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:27324753A>G	ENST00000520933.2	-	4	595	c.442T>C	c.(442-444)Tac>Cac	p.Y148H	CHRNA2_ENST00000240132.2_Missense_Mutation_p.Y133H|CHRNA2_ENST00000407991.1_Missense_Mutation_p.Y148H			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	148					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	TACTTGTTGTAGAGAACAATG	0.587																																																	0													86	81	83					8																	27324753		2203	4300	6503	SO:0001583	missense	0			U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1956	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 2 (neuronal)"	118502	"cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.442T>C	8.37:g.27324753A>G	ENSP00000429616:p.Tyr148His		A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.Y148H	ENST00000520933.2	37	c.442	CCDS6059.1	8	.	.	.	.	.	.	.	.	.	.	A	19.96	3.923186	0.73213	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132	T;T;T	0.79653	-1.29;-1.29;-1.29	5.39	5.39	0.77823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91553	0.7332	M	0.92880	3.355	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93325	0.6696	10	0.87932	D	0	.	13.3547	0.60621	1.0:0.0:0.0:0.0	.	133;148	B4DK19;Q15822	.;ACHA2_HUMAN	H	148;148;133	ENSP00000385026:Y148H;ENSP00000429616:Y148H;ENSP00000240132:Y133H	ENSP00000240132:Y133H	Y	-	1	0	CHRNA2	27380670	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.480000	0.81109	2.037000	0.60232	0.459000	0.35465	TAC	CHRNA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000120903		0.587	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA2	HGNC	protein_coding	OTTHUMT00000376125.4	-	0	57	0	A			27324753	-1	tier1	-	no_errors	ENST00000407991	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	G	G	27324753	A	G	27324753	3	3	87	1	0	0	0	0	1	0	0	0	3390	420	15	4	1159	4	CHRNA2	8	27324753	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	959044	27324753	119039269	864	23988											
C8orf80	389643	genome.wustl.edu	37	chr8	27903090	27903090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatctgtgaggagcaacaggCcaaaggcttcagtcacatac	13	8	10	10	0	3	1	2	1	1	0	3	2	3	2	1	3	3	2	1	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:27903090C>T	ENST00000413272.2	-	12	1542	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	NUGGC_ENST00000341513.6_Missense_Mutation_p.G467D	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	467					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GAGCAACAGGCCAAAGGCTTC	0.473																																																	0													154	157	156					8																	27903090		1927	4129	6056	SO:0001583	missense	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1400G>A	8.37:g.27903090C>T	ENSP00000408697:p.Gly467Asp		Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.G467D	ENST00000413272.2	37	c.1400	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176614	0.78564	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15834	2.39;2.39	5.32	5.32	0.75619	.	0.122293	0.53938	D	0.000051	T	0.29288	0.0729	L	0.32530	0.975	0.48452	D	0.999656	D	0.76494	0.999	D	0.66716	0.946	T	0.00945	-1.1505	10	0.44086	T	0.13	-19.6601	14.51	0.67780	0.0:1.0:0.0:0.0	.	467	Q68CJ6	SLIP_HUMAN	D	467	ENSP00000408697:G467D;ENSP00000345031:G467D	ENSP00000345031:G467D	G	-	2	0	C8orf80	27959009	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.368000	0.44222	2.469000	0.83416	0.655000	0.94253	GGC	NUGGC	-	NULL	ENSG00000189233		0.473	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	-	0	73	0	C	NM_001010906		27903090	-1	tier1	-	no_errors	ENST00000341513	ensembl	human	known	74_37	missense	11.54	92	12	SNP	0.998	T	T	27903090	C	T	27903090	3	4	87	1	0	0	0	0	1	0	0	0	2446	739	26	3	1022	3	C8orf80	8	27903090	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	578337	27903090	118460932	865	23989											
FZD3	7976	genome.wustl.edu	37	chr8	28420373	28420373	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcatggcagcatgtcaCgactaacagatcactccagg	12	8	8	13	1	3	1	3	0	0	1	4	2	4	1	2	2	3	2	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:28420373C>T	ENST00000240093.3	+	8	2324	c.1846C>T	c.(1846-1848)Cga>Tga	p.R616*	FZD3_ENST00000537916.1_Nonsense_Mutation_p.R616*	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	616					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CAGCATGTCACGACTAACAGA	0.453																																																	0													114	88	97					8																	28420373		2203	4300	6503	SO:0001587	stop_gained	0			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"GPCR / Class F : Frizzled receptors"	4041	protein-coding gene	gene with protein product		606143	"frizzled (Drosophila) homolog 3", "frizzled homolog 3 (Drosophila)", "frizzled 3, seven transmembrane spanning receptor", "frizzled family receptor 3"			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1846C>T	8.37:g.28420373C>T	ENSP00000240093:p.Arg616*		A8K615	Nonsense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R616*	ENST00000240093.3	37	c.1846	CCDS6069.1	8	.	.	.	.	.	.	.	.	.	.	C	43	10.401371	0.99398	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	.	.	.	5.35	5.35	0.76521	.	0.492668	0.20662	N	0.088018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4037	0.90526	0.0:1.0:0.0:0.0	.	.	.	.	X	616	.	ENSP00000240093:R616X	R	+	1	2	FZD3	28476292	1.000000	0.71417	0.992000	0.48379	0.950000	0.60333	5.411000	0.66386	2.667000	0.90743	0.591000	0.81541	CGA	FZD3	-	NULL	ENSG00000104290		0.453	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD3	HGNC	protein_coding	OTTHUMT00000219986.2	-	0	41	0	C	NM_145866		28420373	1	tier1	-	no_errors	ENST00000240093	ensembl	human	known	74_37	nonsense	28.81	42	17	SNP	1.000	T	T	28420373	C	T	28420373	4	4	87	1	0	0	0	0	0	1	0	0	6155	528	19	1	1868	1	FZD3	8	28420373	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	517283	28420373	117943649	866	23990											
INTS9	55756	genome.wustl.edu	37	chr8	28628531	28628531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttatctttggtgtgcaGcacggccgagacagttgcca	7	12	12	10	2	1	1	0	0	1	1	1	2	1	1	2	2	3	4	2	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:28628531G>A	ENST00000521022.1	-	15	1711	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	INTS9_ENST00000416984.2_Silent_p.L523L|INTS9_ENST00000521777.1_Silent_p.L520L|INTS9_ENST00000397363.4_Silent_p.L438L	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	544					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TTGGTGTGCAGCACGGCCGAG	0.582																																																	0													70	62	65					8																	28628531		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1630C>T	8.37:g.28628531G>A			B7Z560|B7Z6M5|O00224|Q8TB16	Silent	SNP	pfam_Beta_Casp	p.L544	ENST00000521022.1	37	c.1630	CCDS34873.1	8																																																																																			INTS9	-	NULL	ENSG00000104299		0.582	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	HGNC	protein_coding	OTTHUMT00000376846.1	-	0	50	0	G	NM_018250		28628531	-1	tier1	-	no_errors	ENST00000521022	ensembl	human	known	74_37	silent	16.98	43	9	SNP	1.000	A	A	28628531	G	A	28628531	2	1	87	1	0	0	0	0	0	0	0	1	7812	962	34	3		3	INTS9	8	28628531	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	208158	28628531	117735491	867	23991											
KIF13B	23303	genome.wustl.edu	37	chr8	28974483	28974483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcccctgctgagctgaggGcagccatgcaccgcggagtc	6	6	15	14	2	0	2	0	2	0	0	1	3	0	3	4	2	5	4	4	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:28974483G>A	ENST00000524189.1	-	31	3740	c.3702C>T	c.(3700-3702)tgC>tgT	p.C1234C	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1234					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TGAGCTGAGGGCAGCCATGCA	0.577																																																	0													59	63	62					8																	28974483		2018	4169	6187	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3702C>T	8.37:g.28974483G>A			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.C1234	ENST00000524189.1	37	c.3702	CCDS55217.1	8																																																																																			KIF13B	-	pfam_Kinesin-like	ENSG00000197892		0.577	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1		0	27	0	G			28974483	-1			no_errors	ENST00000524189	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.785	A	A	28974483	G	A	28974483	2	1	87	1	0	0	0	0	0	0	0	1	8302	1195	42	3		3	KIF13B	8	28974483	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	345952	28974483	117389539	868	23992											
TEX15	56154	genome.wustl.edu	37	chr8	30701437	30701437	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttcaatgaattgaatTgtttccatcatcatttgaag	11	19	6	5	0	3	3	3	3	0	0	4	3	4	3	1	0	0	2	1	0	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:30701437T>C	ENST00000256246.2	-	1	5171	c.5097A>G	c.(5095-5097)acA>acG	p.T1699T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1699					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATTGAATTGTTTCCATCA	0.373																																																	0													137	133	134					8																	30701437		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"cancer/testis antigen 42"	605795	"testis expressed sequence 15"			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5097A>G	8.37:g.30701437T>C				Silent	SNP	NULL	p.T1699	ENST00000256246.2	37	c.5097	CCDS6080.1	8																																																																																			TEX15	-	NULL	ENSG00000133863		0.373	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	-	0	61	0	T			30701437	-1	tier1	-	no_errors	ENST00000256246	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.951	C	C	30701437	T	C	30701437	2	2	87	1	0	0	0	0	0	0	0	1	15826	1799	63	4		4	TEX15	8	30701437	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1726954	30701437	115662585	869	23993											
WRN	7486	genome.wustl.edu	37	chr8	30946428	30946428	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtggccagcacccaaTgaagagcaagttacttgcct	10	12	9	10	0	0	2	0	1	0	1	0	2	0	2	3	1	4	3	3	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:30946428T>C	ENST00000298139.5	+	13	1848	c.1599T>C	c.(1597-1599)aaT>aaC	p.N533N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	533			N -> S (in dbSNP:rs11574240). {ECO:0000269|Ref.4}.		aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAGCACCCAATGAAGAGCAAG	0.333			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													94	87	89					8																	30946428		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1599T>C	8.37:g.30946428T>C			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.N533	ENST00000298139.5	37	c.1599	CCDS6082.1	8																																																																																			WRN	-	NULL	ENSG00000165392		0.333	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	50	0	T			30946428	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	23.86	67	21	SNP	0.002	C	C	30946428	T	C	30946428	2	2	87	1	0	0	0	0	0	0	0	1	17451	1461	51	4		4	WRN	8	30946428	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	244991	30946428	115417594	870	23994											
WRN	7486	genome.wustl.edu	37	chr8	30977866	30977866	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcatattatcaggagatTggtagagctggtcgtgatgg	11	12	14	4	1	2	3	2	1	0	2	3	5	2	3	0	4	1	2	0	4	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:30977866T>C	ENST00000298139.5	+	21	2805	c.2556T>C	c.(2554-2556)atT>atC	p.I852I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	852	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATCAGGAGATTGGTAGAGCTG	0.393			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													145	137	140					8																	30977866		2203	4299	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2556T>C	8.37:g.30977866T>C			A1KYY9	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.I852	ENST00000298139.5	37	c.2556	CCDS6082.1	8																																																																																			WRN	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.393	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	71	0	T			30977866	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	silent	10.67	67	8	SNP	0.998	C	C	30977866	T	C	30977866	2	2	87	1	0	0	0	0	0	0	0	1	17451	1800	63	4		4	WRN	8	30977866	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	31438	30977866	115386156	871	23995											
KCNU1	157855	genome.wustl.edu	37	chr8	36768606	36768608	+	In_Frame_Del	DEL	CTC	CTC	-																															atcggatccttgcaaattgaCtcctcctctgacccgtcacc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:36768606_36768608delCTC	ENST00000399881.3	+	22	2527_2529	c.2490_2492delCTC	c.(2488-2493)gactcc>gac	p.S833del		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	833					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCAAATTGACTCCTCCTCTGAC	0.498																																																	0																																										SO:0001651	inframe_deletion	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2490_2492delCTC	8.37:g.36768612_36768614delCTC	ENSP00000382770:p.Ser833del			In_Frame_Del	DEL	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.S833in_frame_del	ENST00000399881.3	37	c.2490_2492	CCDS55220.1	8																																																																																			KCNU1	-	NULL	ENSG00000215262		0.498	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1		0	64	0	CTC	NM_001031836		36768608	1	tier1		no_errors	ENST00000399881	ensembl	human	known	74_37	in_frame_del	13.43	58	9	DEL	0.000:0.000:0.000	-	-	36768608	CTC	-	36768606	7	5	87	1	0	1	0	1	0	0	0	0	8120	564	20	0	2576	0	KCNU1	8	36768606	In_Frame_Del	DEL	CTC	TCGA-L5-A8NM-01A-11D-A37C-09	5790740	36768606	109595416	872	23996											
ZNF703	80139	genome.wustl.edu	37	chr8	37554830	37554830	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgccgcctccgcagcCgcggccctgaagcagctggg	4	3	16	18	6	0	1	0	1	0	0	1	1	1	1	6	3	3	3	6	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:37554830C>T	ENST00000331569.4	+	2	640	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	137	Poly-Ala.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CCTCCGCAGCCGCGGCCCTGA	0.736																																																	0													4	6	5					8																	37554830		2001	3963	5964	SO:0001819	synonymous_variant	0			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.411C>T	8.37:g.37554830C>T			Q5XG76	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.A137	ENST00000331569.4	37	c.411	CCDS6094.1	8																																																																																			ZNF703	-	NULL	ENSG00000183779		0.736	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	-	0	24	0	C	NM_025069		37554830	1	tier1	-	no_errors	ENST00000331569	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.378	T	T	37554830	C	T	37554830	2	4	87	1	0	0	0	0	0	0	0	1	18154	639	23	1		1	ZNF703	8	37554830	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	786224	37554830	108809192	873	23997											
RAB11FIP1	80223	genome.wustl.edu	37	chr8	37728987	37728987	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagaatgtgcagagctGgggaaagagtgtgtgacagg	11	8	18	4	0	1	4	1	1	0	3	1	5	1	5	0	3	2	2	0	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:37728987G>T	ENST00000330843.4	-	4	3345	c.3333C>A	c.(3331-3333)ccC>ccA	p.P1111P	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1111					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTGCAGAGCTGGGGAAAGAGT	0.532											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													187	190	189					8																	37728987		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3333C>A	8.37:g.37728987G>T		872	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P1111	ENST00000330843.4	37	c.3333	CCDS34882.1	8																																																																																			RAB11FIP1	-	NULL	ENSG00000156675		0.532	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0	52	0	G	NM_025151		37728987	-1	tier1	-	no_errors	ENST00000330843	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.000	T	T	37728987	G	T	37728987	2	4	87	1	0	0	0	0	0	0	0	1	12938	1335	47	3		3	RAB11FIP1	8	37728987	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	174157	37728987	108635035	874	23998											
DDHD2	23259	genome.wustl.edu	37	chr8	38103301	38103301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcattaaccgcctcaGgcacttcaccaatgacacaa	13	6	6	16	1	2	1	2	1	0	0	2	1	2	1	4	1	2	2	4	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38103301G>T	ENST00000397166.2	+	8	1415	c.890G>T	c.(889-891)aGg>aTg	p.R297M	DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Missense_Mutation_p.R297M|DDHD2_ENST00000517385.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	297					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AACCGCCTCAGGCACTTCACC	0.413																																																	0													150	152	151					8																	38103301		2203	4300	6503	SO:0001583	missense	0			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"Sterile alpha motif (SAM) domain containing"	29106	protein-coding gene	gene with protein product		615003	"SAM, WWE and DDHD domain containing 1"	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.890G>T	8.37:g.38103301G>T	ENSP00000380352:p.Arg297Met		B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom	p.R297M	ENST00000397166.2	37	c.890	CCDS34883.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684037|4.684037	0.88639|0.88639	.|.	.|.	ENSG00000085788|ENSG00000085788	ENST00000532106|ENST00000397166;ENST00000520272;ENST00000440212	.|T;T	.|0.57907	.|0.37;0.37	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.78991|0.78991	0.4371|0.4371	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.986	T|T	0.82782|0.82782	-0.0287|-0.0287	5|10	.|0.87932	.|D	.|0	-19.4023|-19.4023	18.8574|18.8574	0.92259|0.92259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|109;297	.|B4DSR3;O94830	.|.;DDHD2_HUMAN	C|M	90|297;297;109	.|ENSP00000380352:R297M;ENSP00000429932:R297M	.|ENSP00000380352:R297M	G|R	+|+	1|2	0|0	DDHD2|DDHD2	38222458|38222458	1.000000|1.000000	0.71417|0.71417	0.691000|0.691000	0.30163|0.30163	0.997000|0.997000	0.91878|0.91878	9.803000|9.803000	0.99136|0.99136	2.773000|2.773000	0.95371|0.95371	0.585000|0.585000	0.79938|0.79938	GGC|AGG	DDHD2	-	NULL	ENSG00000085788		0.413	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	HGNC	protein_coding	OTTHUMT00000377251.2	-	0	63	0	G	XM_291291		38103301	1	tier1	-	no_errors	ENST00000397166	ensembl	human	known	74_37	missense	13.70	63	10	SNP	0.825	T	T	38103301	G	T	38103301	3	4	87	1	0	0	0	0	1	0	0	0	4336	1000	35	3	978	3	DDHD2	8	38103301	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	374314	38103301	108260721	875	23999											
TACC1	6867	genome.wustl.edu	37	chr8	38677720	38677721	+	Frame_Shift_Ins	INS	-	-	T																															gaggagctcacctctcaagcINSttgagtttgatttcacagaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38677720_38677721insT	ENST00000317827.4	+	3	1337_1338	c.958_959insT	c.(958-960)cttfs	p.L320fs	TACC1_ENST00000520340.1_Frame_Shift_Ins_p.L284fs|TACC1_ENST00000520615.1_Frame_Shift_Ins_p.L125fs|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000379931.3_Frame_Shift_Ins_p.L320fs|TACC1_ENST00000443286.2_Frame_Shift_Ins_p.L336fs|TACC1_ENST00000520973.1_Frame_Shift_Ins_p.L125fs|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000519416.1_Frame_Shift_Ins_p.L125fs|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000518415.1_Frame_Shift_Ins_p.L275fs	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	320	Interaction with YEATS4.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ACCTCTCAAGCTTGAGTTTGAT	0.525																																																	0																																										SO:0001589	frameshift_variant	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.960dupT	8.37:g.38677722_38677722dupT	ENSP00000321703:p.Leu320fs		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Frame_Shift_Ins	INS	pfam_TACC	p.E321fs	ENST00000317827.4	37	c.958_959	CCDS6109.1	8																																																																																			TACC1	-	NULL	ENSG00000147526		0.525	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1		0	38	0	-	NM_006283		38677721	1	tier1		no_errors	ENST00000379931	ensembl	human	known	74_37	frame_shift_ins	11.90	37	5	INS	0.699:0.697	T	T	38677721	-	T	38677720	7	5	87	1	0	1	1	0	0	0	0	0	15548	797	28	0	968	0	TACC1	8	38677720	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	574419	38677720	107686302	876	24000											
PLEKHA2	59339	genome.wustl.edu	37	chr8	38809686	38809686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacactgtttccttgcagaaCggtggggatgggcaggaagg	9	8	17	7	1	0	1	0	0	0	1	1	4	1	3	1	6	2	3	1	6	2	2	rs533387323	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:38809686C>T	ENST00000521746.1	+	7	723	c.489C>T	c.(487-489)aaC>aaT	p.N163N	PLEKHA2_ENST00000388745.4_3'UTR|PLEKHA2_ENST00000420274.1_Silent_p.N163N			Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	163					positive regulation of cell-matrix adhesion (GO:0001954)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			CCTTGCAGAACGGTGGGGATG	0.607													C|||	2	0.000399361	0	0	5008	,	,		16052	0.001		0	False		,,,				2504	0.001																0													50	58	55					8																	38809686		2145	4242	6387	SO:0001819	synonymous_variant	0			AF286164	CCDS75732.1	8p11.21	2013-01-10	2002-01-14			ENSG00000169499		"Pleckstrin homology (PH) domain containing"	14336	protein-coding gene	gene with protein product	"tandem PH Domain containing protein-2"	607773	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 2"			11001876	Standard	NM_021623		Approved	TAPP2	uc003xmi.4	Q9HB19		ENST00000521746.1:c.489C>T	8.37:g.38809686C>T				Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N163	ENST00000521746.1	37	c.489		8																																																																																			PLEKHA2	-	NULL	ENSG00000169499		0.607	PLEKHA2-002	PUTATIVE	basic	protein_coding	PLEKHA2	HGNC	protein_coding	OTTHUMT00000377068.1	-	0	34	0	C	NM_021623		38809686	1	tier1	-	no_errors	ENST00000420274	ensembl	human	known	74_37	silent	15.79	32	6	SNP	0.942	T	T	38809686	C	T	38809686	2	4	87	1	0	0	0	0	0	0	0	1	12095	535	19	1		1	PLEKHA2	8	38809686	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	131966	38809686	107554336	877	24001											
ADAM2	2515	genome.wustl.edu	37	chr8	39603995	39603995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgaaatcaatatactcatCgcttgaatagtcctcagttc	13	14	5	9	1	3	2	3	2	0	0	6	2	4	2	1	0	1	2	1	0	7	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:39603995C>T	ENST00000265708.4	-	19	2273	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	ADAM2_ENST00000521880.1_Missense_Mutation_p.D661N|ADAM2_ENST00000347580.4_Missense_Mutation_p.D705N|ADAM2_ENST00000379853.2_Missense_Mutation_p.D568N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	724					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ATATACTCATCGCTTGAATAG	0.269																																																	0													91	95	94					8																	39603995		2203	4296	6499	SO:0001583	missense	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"ADAM metallopeptidase domain containing"	198	protein-coding gene	gene with protein product	"cancer/testis antigen 15"	601533	"fertilin beta"	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.2170G>A	8.37:g.39603995C>T	ENSP00000265708:p.Asp724Asn		P78326|Q9UQQ8	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D724N	ENST00000265708.4	37	c.2170	CCDS34884.1	8	.	.	.	.	.	.	.	.	.	.	C	8.302	0.820132	0.16678	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.02472	4.96;4.28;5.2;5.07	3.85	2.04	0.26737	.	.	.	.	.	T	0.04318	0.0119	L	0.49126	1.545	0.22835	N	0.998672	D;P;D;D	0.61080	0.981;0.946;0.989;0.981	B;B;P;B	0.46718	0.326;0.326;0.525;0.326	T	0.42361	-0.9456	9	0.42905	T	0.14	.	5.8717	0.18807	0.0:0.7603:0.0:0.2397	.	661;568;705;724	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	N	705;568;724;661	ENSP00000343854:D705N;ENSP00000369182:D568N;ENSP00000265708:D724N;ENSP00000429352:D661N	ENSP00000265708:D724N	D	-	1	0	ADAM2	39723152	0.952000	0.32445	0.984000	0.44739	0.384000	0.30261	0.694000	0.25512	0.589000	0.29677	0.585000	0.79938	GAT	ADAM2	-	NULL	ENSG00000104755		0.269	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0	69	0	C	NM_001464		39603995	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	missense	14.78	98	17	SNP	0.987	T	T	39603995	C	T	39603995	3	4	87	1	0	0	0	0	1	0	0	0	241	884	31	1	45	1	ADAM2	8	39603995	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	794309	39603995	106760027	878	24002											
ANK1	286	genome.wustl.edu	37	chr8	41553959	41553959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggccagtgggggcggcGtgctgagcttctggggcttg	2	9	19	11	3	1	1	0	1	1	0	2	1	1	1	2	6	2	3	2	6	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:41553959G>A	ENST00000347528.4	-	26	2965	c.2882C>T	c.(2881-2883)aCg>aTg	p.T961M	ANK1_ENST00000289734.7_Missense_Mutation_p.T961M|ANK1_ENST00000379758.2_Missense_Mutation_p.T961M|ANK1_ENST00000265709.8_Missense_Mutation_p.T1002M|ANK1_ENST00000396942.1_Missense_Mutation_p.T961M|ANK1_ENST00000396945.1_Missense_Mutation_p.T961M|ANK1_ENST00000352337.4_Missense_Mutation_p.T961M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	961	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGGGGCGGCGTGCTGAGCTT	0.711																																																	0													37	39	38					8																	41553959		2203	4298	6501	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2882C>T	8.37:g.41553959G>A	ENSP00000339620:p.Thr961Met		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T961M	ENST00000347528.4	37	c.2882	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646892	0.87958	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.53	5.53	0.82687	ZU5 (3);	0.224017	0.44285	D	0.000477	T	0.62804	0.2458	L	0.56769	1.78	0.58432	D	0.99999	D;D;P;P;D;D	0.89917	0.994;0.998;0.511;0.508;0.994;1.0	P;P;B;B;P;D	0.72338	0.801;0.778;0.105;0.058;0.706;0.977	T	0.61608	-0.7028	10	0.51188	T	0.08	.	19.4479	0.94855	0.0:0.0:1.0:0.0	.	1002;961;961;961;961;277	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	M	961;961;961;961;961;961;1002;961	ENSP00000339620:T961M;ENSP00000289734:T961M;ENSP00000369082:T961M;ENSP00000380149:T961M;ENSP00000380147:T961M;ENSP00000309131:T961M;ENSP00000265709:T1002M	ENSP00000265709:T1002M	T	-	2	0	ANK1	41673116	1.000000	0.71417	0.991000	0.47740	0.891000	0.51852	5.401000	0.66326	2.599000	0.87857	0.561000	0.74099	ACG	ANK1	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000029534		0.711	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0	99	0	G	NM_020475		41553959	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	21.80	104	29	SNP	1.000	A	A	41553959	G	A	41553959	3	1	87	1	0	0	0	0	1	0	0	0	620	1145	40	1	3157	1	ANK1	8	41553959	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1949964	41553959	104810063	879	24003											
MYST3	7994	genome.wustl.edu	37	chr8	41791588	41791588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatctgctctgacaccaCggacgtgtcatgggaaggct	9	8	12	12	2	3	1	1	1	2	0	3	3	3	3	2	3	2	2	2	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:41791588C>T	ENST00000396930.3	-	18	4693	c.4150G>A	c.(4150-4152)Gtg>Atg	p.V1384M	KAT6A_ENST00000265713.2_Missense_Mutation_p.V1384M|KAT6A_ENST00000406337.1_Missense_Mutation_p.V1384M	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1384					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TCTGACACCACGGACGTGTCA	0.463																																																	0													125	113	117					8																	41791588		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	13013	protein-coding gene	gene with protein product	"Monocytic leukemia zinc finger protein"	601408	"runt-related transcription factor binding protein 2", "MYST histone acetyltransferase (monocytic leukemia) 3"	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4150G>A	8.37:g.41791588C>T	ENSP00000380136:p.Val1384Met		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V1384M	ENST00000396930.3	37	c.4150	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	5.797	0.331328	0.10956	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.60299	0.2;0.2;0.2	5.97	5.1	0.69264	.	0.091907	0.47455	N	0.000234	T	0.46600	0.1401	N	0.19112	0.55	0.26078	N	0.981134	P	0.42620	0.785	P	0.45406	0.479	T	0.41431	-0.9509	10	0.46703	T	0.11	-15.0058	9.9717	0.41759	0.1377:0.7935:0.0:0.0688	.	1384	Q92794	KAT6A_HUMAN	M	1384	ENSP00000265713:V1384M;ENSP00000385888:V1384M;ENSP00000380136:V1384M	ENSP00000265713:V1384M	V	-	1	0	KAT6A	41910745	0.707000	0.27866	0.959000	0.39883	0.033000	0.12548	2.014000	0.40951	1.536000	0.49237	0.655000	0.94253	GTG	KAT6A	-	NULL	ENSG00000083168		0.463	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	-	0	24	0	C	NM_006766		41791588	-1	tier1	-	no_errors	ENST00000265713	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.568	T	T	41791588	C	T	41791588	3	4	87	1	0	0	0	0	1	0	0	0	10142	536	19	1	1868	1	MYST3	8	41791588	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	237629	41791588	104572434	880	24004											
CHRNA6	8973	genome.wustl.edu	37	chr8	42611064	42611064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacatcttcaacttcaggCgagtgctccgaattttccac	10	12	6	13	2	4	0	3	0	1	0	6	2	6	0	2	1	2	1	2	1	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:42611064C>T	ENST00000276410.2	-	5	1633	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Silent_p.S411S	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	426					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CAACTTCAGGCGAGTGCTCCG	0.433																																																	0													222	192	202					8																	42611064		2203	4300	6503	SO:0001819	synonymous_variant	0			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	15963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 6 (neuronal)"	606888	"cholinergic receptor, nicotinic, alpha polypeptide 6"			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1278G>A	8.37:g.42611064C>T			B2R8V4|B4DQH1	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S426	ENST00000276410.2	37	c.1278	CCDS6135.1	8																																																																																			CHRNA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000147434		0.433	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	-	0	53	0	C			42611064	-1	tier1	-	no_errors	ENST00000276410	ensembl	human	known	74_37	silent	8.86	72	7	SNP	0.000	T	T	42611064	C	T	42611064	2	4	87	1	0	0	0	0	0	0	0	1	3394	755	27	1		1	CHRNA6	8	42611064	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	819476	42611064	103752958	881	24005											
PRKDC	5591	genome.wustl.edu	37	chr8	48767818	48767818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacaatccttccagcactcGacaagggtctttataatttc	13	12	5	11	1	1	0	0	0	1	0	5	1	3	0	2	1	2	1	2	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:48767818G>A	ENST00000314191.2	-	51	6779	c.6723C>T	c.(6721-6723)gtC>gtT	p.V2241V	PRKDC_ENST00000338368.3_Silent_p.V2241V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2242					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TCCAGCACTCGACAAGGGTCT	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													76	68	71					8																	48767818		1825	4083	5908	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6723C>T	8.37:g.48767818G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.V2241	ENST00000314191.2	37	c.6723		8																																																																																			PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	49	0	G	NM_001081640		48767818	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.976	A	A	48767818	G	A	48767818	2	1	87	1	0	0	0	0	0	0	0	1	12563	1045	37	1		1	PRKDC	8	48767818	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6156754	48767818	97596204	882	24006											
PRKDC	5591	genome.wustl.edu	37	chr8	48776098	48776098	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaatcttatagtagcccAtcttcttggtgatttgagta	10	16	8	7	0	3	3	0	2	3	1	3	3	3	3	1	1	1	2	1	1	6	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:48776098A>G	ENST00000314191.2	-	43	5665	c.5609T>C	c.(5608-5610)aTg>aCg	p.M1870T	PRKDC_ENST00000338368.3_Missense_Mutation_p.M1870T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1871					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAGTAGCCCATCTTCTTGGT	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													163	159	160					8																	48776098		1827	4089	5916	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5609T>C	8.37:g.48776098A>G	ENSP00000313420:p.Met1870Thr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M1870T	ENST00000314191.2	37	c.5609		8	.	.	.	.	.	.	.	.	.	.	A	10.34	1.324466	0.24080	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.30182	1.54;1.54	5.86	5.86	0.93980	NUC194 (1);Armadillo-type fold (1);	0.221457	0.47455	D	0.000223	T	0.29817	0.0745	L	0.48362	1.52	0.30762	N	0.743973	B;B	0.18166	0.026;0.026	B;B	0.23716	0.048;0.048	T	0.26538	-1.0100	10	0.51188	T	0.08	.	12.1575	0.54085	0.8574:0.1426:0.0:0.0	.	1870;1871	E7EUY0;P78527	.;PRKDC_HUMAN	T	1870	ENSP00000313420:M1870T;ENSP00000345182:M1870T	ENSP00000313420:M1870T	M	-	2	0	PRKDC	48938651	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.156000	0.31712	2.240000	0.73641	0.533000	0.62120	ATG	PRKDC	-	pfam_NUC194,superfamily_ARM-type_fold	ENSG00000253729		0.323	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0	41	0	A	NM_001081640		48776098	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	missense	18.42	62	14	SNP	1.000	G	G	48776098	A	G	48776098	3	3	87	1	0	0	0	0	1	0	0	0	12563	217	8	4	6954	4	PRKDC	8	48776098	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	8280	48776098	97587924	883	24007											
ST18	9705	genome.wustl.edu	37	chr8	53071577	53071577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttcactacattgaccgtAgctataagagctggcacggc	10	10	10	11	2	2	2	1	1	1	1	2	2	2	2	1	2	3	4	1	2	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53071577A>G	ENST00000276480.7	-	15	2370	c.1687T>C	c.(1687-1689)Tac>Cac	p.Y563H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	563					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTGACCGTAGCTATAAGAG	0.537																																																	0													106	112	110					8																	53071577		2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1687T>C	8.37:g.53071577A>G	ENSP00000276480:p.Tyr563His		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.Y563H	ENST00000276480.7	37	c.1687	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	A	12.82	2.052107	0.36181	.	.	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.51574	0.7;0.7	6.08	2.45	0.29901	Myelin transcription factor 1 (1);	0.229141	0.46758	N	0.000272	T	0.40932	0.1137	L	0.55103	1.725	0.35986	D	0.836349	B;B	0.18968	0.032;0.011	B;B	0.23419	0.046;0.027	T	0.37174	-0.9717	10	0.34782	T	0.22	-7.7457	9.4442	0.38688	0.7974:0.0:0.2026:0.0	.	563;563	E5RHS3;O60284	.;ST18_HUMAN	H	563	ENSP00000276480:Y563H;ENSP00000428521:Y563H	ENSP00000276480:Y563H	Y	-	1	0	ST18	53234130	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	3.729000	0.54999	0.195000	0.20347	0.533000	0.62120	TAC	ST18	-	pfam_Myelin_TF	ENSG00000147488		0.537	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	36	0	A			53071577	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	G	G	53071577	A	G	53071577	3	3	87	1	0	0	0	0	1	0	0	0	15259	420	15	4	1504	4	ST18	8	53071577	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4295479	53071577	93292445	884	24008											
RB1CC1	9821	genome.wustl.edu	37	chr8	53554985	53554985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccacagcggatctatcTgattcacctgggagttcagg	8	12	11	10	1	4	1	2	1	2	0	5	3	5	3	2	3	1	2	2	3	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53554985T>C	ENST00000025008.5	-	18	4786	c.4263A>G	c.(4261-4263)tcA>tcG	p.S1421S	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Silent_p.S1421S|RB1CC1_ENST00000539297.1_Silent_p.S1421S	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1421					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CGGATCTATCTGATTCACCTG	0.443																																					GBM(180;1701 2102 13475 42023 52570)												0													126	120	122					8																	53554985		2203	4300	6503	SO:0001819	synonymous_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.4263A>G	8.37:g.53554985T>C			Q86YR4|Q8WVU9|Q92601	Silent	SNP	pfam_Autophagy-rel_p11	p.S1421	ENST00000025008.5	37	c.4263	CCDS34892.1	8																																																																																			RB1CC1	-	NULL	ENSG00000023287		0.443	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0	53	0	T	NM_014781		53554985	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	silent	15.09	45	8	SNP	0.018	C	C	53554985	T	C	53554985	2	2	87	1	0	0	0	0	0	0	0	1	13144	1567	55	4		4	RB1CC1	8	53554985	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	483408	53554985	92809037	885	24009											
RB1CC1	9821	genome.wustl.edu	37	chr8	53574183	53574183	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttttctatgattttgcaAcataatcatcaactgatttg	12	17	5	7	0	3	2	2	2	1	0	3	2	3	2	0	0	3	2	0	0	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53574183A>T	ENST00000025008.5	-	9	1793	c.1270T>A	c.(1270-1272)Ttg>Atg	p.L424M	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.L424M|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L424M	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	424					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGATTTTGCAACATAATCATC	0.353																																					GBM(180;1701 2102 13475 42023 52570)												0													162	156	158					8																	53574183		2203	4300	6503	SO:0001583	missense	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"200 kDa FAK family kinase-interacting protein", "phosphatase 1, regulatory subunit 131"	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.1270T>A	8.37:g.53574183A>T	ENSP00000025008:p.Leu424Met		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	pfam_Autophagy-rel_p11	p.L424M	ENST00000025008.5	37	c.1270	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117601	0.77323	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.18810	2.19;2.19;2.19	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000004	T	0.43277	0.1240	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.38672	-0.9650	10	0.72032	D	0.01	-8.2713	9.9258	0.41492	0.9235:0.0:0.0765:0.0	.	424;424	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	M	424	ENSP00000025008:L424M;ENSP00000396067:L424M;ENSP00000445960:L424M	ENSP00000025008:L424M	L	-	1	2	RB1CC1	53736736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.862000	0.62976	2.116000	0.64780	0.528000	0.53228	TTG	RB1CC1	-	NULL	ENSG00000023287		0.353	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	-	0	47	0	A	NM_014781		53574183	-1	tier1	-	no_errors	ENST00000025008	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	T	T	53574183	A	T	53574183	3	4	87	1	0	0	0	0	1	0	0	0	13144	40	2	5	3578	5	RB1CC1	8	53574183	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	19198	53574183	92789839	886	24010											
NPBWR1	2831	genome.wustl.edu	37	chr8	53852507	53852507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagccctggcccgccaacGcatcgggcccggacccggcg	5	2	15	19	7	0	0	0	0	0	0	1	2	0	2	5	5	2	1	5	5	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:53852507G>A	ENST00000331251.3	+	1	1517	c.40G>A	c.(40-42)Gca>Aca	p.A14T		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	14					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCCGCCAACGCATCGGGCCC	0.706																																																	0													8	10	10					8																	53852507		2160	4241	6401	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"GPCR / Class A : Neuropeptide receptors : W/B"	4522	protein-coding gene	gene with protein product		600730	"G protein-coupled receptor 7"	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.40G>A	8.37:g.53852507G>A	ENSP00000330284:p.Ala14Thr		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.A14T	ENST00000331251.3	37	c.40	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649813	0.29336	.	.	ENSG00000183729	ENST00000331251	T	0.37411	1.2	4.19	-0.13	0.13498	.	119.677000	0.00982	U	0.003398	T	0.18341	0.0440	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.04013	0.001	T	0.12142	-1.0559	10	0.15066	T	0.55	.	4.6797	0.12729	0.2826:0.0:0.4821:0.2353	.	14	P48145	NPBW1_HUMAN	T	14	ENSP00000330284:A14T	ENSP00000330284:A14T	A	+	1	0	NPBWR1	54015060	0.000000	0.05858	0.010000	0.14722	0.006000	0.05464	-0.120000	0.10660	0.045000	0.15804	0.650000	0.86243	GCA	NPBWR1	-	NULL	ENSG00000183729		0.706	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0	60	0	G	NM_005285		53852507	1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.546	A	A	53852507	G	A	53852507	3	1	87	1	0	0	0	0	1	0	0	0	10607	1087	38	1	42	1	NPBWR1	8	53852507	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	278324	53852507	92511515	887	24011											
SOX17	64321	genome.wustl.edu	37	chr8	55370816	55370816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcgctgagccccatcGgggacatgaaggtgaagggc	9	5	16	11	3	0	3	0	3	0	0	2	5	0	4	3	4	1	1	3	4	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:55370816G>A	ENST00000297316.4	+	1	322	c.118G>A	c.(118-120)Ggg>Agg	p.G40R		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	40					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GAGCCCCATCGGGGACATGAA	0.741																																																	0													6	9	8					8																	55370816		2116	4158	6274	SO:0001583	missense	0			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"SRY (sex determining region Y)-boxes"	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.118G>A	8.37:g.55370816G>A	ENSP00000297316:p.Gly40Arg			Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G40R	ENST00000297316.4	37	c.118	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	G	26.5	4.741851	0.89573	.	.	ENSG00000164736	ENST00000297316	D	0.97232	-4.3	4.45	4.45	0.53987	.	0.130382	0.50627	D	0.000113	D	0.97288	0.9113	M	0.68952	2.095	0.45930	D	0.998764	D	0.76494	0.999	P	0.59643	0.861	D	0.96640	0.9473	10	0.51188	T	0.08	.	11.3886	0.49800	0.0:0.3022:0.6977:0.0	.	40	Q9H6I2	SOX17_HUMAN	R	40	ENSP00000297316:G40R	ENSP00000297316:G40R	G	+	1	0	SOX17	55533369	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.073000	0.57570	2.464000	0.83262	0.561000	0.74099	GGG	SOX17	-	NULL	ENSG00000164736		0.741	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	-	0	14	0	G			55370816	1	tier1	-	no_errors	ENST00000297316	ensembl	human	known	74_37	missense	41.18	10	7	SNP	1.000	A	A	55370816	G	A	55370816	3	1	87	1	0	0	0	0	1	0	0	0	14992	1116	39	1	120	1	SOX17	8	55370816	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1518309	55370816	90993206	888	24012											
XKR4	114786	genome.wustl.edu	37	chr8	56435983	56435983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacttcttcaccatcGccgccagggtcatcacgttt	6	11	9	15	3	4	0	3	0	1	0	5	0	4	0	3	2	0	3	3	2	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:56435983G>A	ENST00000327381.6	+	3	1250	c.1150G>A	c.(1150-1152)Gcc>Acc	p.A384T	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	384						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCACCATCGCCGCCAGGGT	0.552																																																	0													300	233	256					8																	56435983		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1150G>A	8.37:g.56435983G>A	ENSP00000328326:p.Ala384Thr		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.A384T	ENST00000327381.6	37	c.1150	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008417	0.75046	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63096	-0.02	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.71316	0.3325	L	0.37697	1.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.64765	-0.6330	10	0.20046	T	0.44	-15.5128	19.531	0.95230	0.0:0.0:1.0:0.0	.	384	Q5GH76	XKR4_HUMAN	T	384	ENSP00000328326:A384T	ENSP00000328326:A384T	A	+	1	0	XKR4	56598537	1.000000	0.71417	0.966000	0.40874	0.981000	0.71138	7.863000	0.87023	2.614000	0.88457	0.557000	0.71058	GCC	XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.552	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	70	0	G	NM_052898		56435983	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	34.62	68	36	SNP	1.000	A	A	56435983	G	A	56435983	3	1	87	1	0	0	0	0	1	0	0	0	17482	1087	38	1	1160	1	XKR4	8	56435983	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1065167	56435983	89928039	889	24013											
SLCO5A1	81796	genome.wustl.edu	37	chr8	70674105	70674105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctcccatgacatacaTgatggctgagaagacagaag	15	7	11	8	0	0	5	0	3	0	3	1	6	1	5	1	1	2	2	1	1	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:70674105T>C	ENST00000260126.4	-	3	1619	c.913A>G	c.(913-915)Atg>Gtg	p.M305V	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.M305V|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.M305V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATGACATACATGATGGCTGAG	0.423																																																	0													89	85	86					8																	70674105		2203	4300	6503	SO:0001583	missense	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"Solute carriers"	19046	protein-coding gene	gene with protein product		613543	"solute carrier family 21 (organic anion transporter), member 15"	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.913A>G	8.37:g.70674105T>C	ENSP00000260126:p.Met305Val		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.M305V	ENST00000260126.4	37	c.913	CCDS6205.1	8	.	.	.	.	.	.	.	.	.	.	T	15.96	2.987648	0.53934	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.57107	0.42;0.42;0.42	5.2	5.2	0.72013	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	N	0.10685	0.025	0.47441	D	0.999429	B;B;B;B	0.32409	0.005;0.37;0.014;0.035	B;B;B;B	0.35510	0.009;0.204;0.038;0.021	T	0.23833	-1.0177	10	0.24483	T	0.36	.	15.0554	0.71910	0.0:0.0:0.0:1.0	.	305;305;305;305	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	V	305	ENSP00000260126:M305V;ENSP00000434422:M305V;ENSP00000431611:M305V	ENSP00000260126:M305V	M	-	1	0	SLCO5A1	70836659	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.186000	0.72026	1.969000	0.57287	0.377000	0.23210	ATG	SLCO5A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.423	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	-	0	44	0	T	NM_030958		70674105	-1	tier1	-	no_errors	ENST00000260126	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	C	C	70674105	T	C	70674105	3	2	87	1	0	0	0	0	1	0	0	0	14776	1464	51	4	1665	4	SLCO5A1	8	70674105	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	14238122	70674105	75689917	890	24014											
CA1	759	genome.wustl.edu	37	chr8	86250552	86250552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgataatttctttggctgtgGctgggttgtaggagacacta	8	15	13	5	0	1	2	0	1	1	1	1	3	1	2	0	4	0	4	0	4	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:86250552G>A	ENST00000523953.1	-	4	1210	c.164C>T	c.(163-165)gCc>gTc	p.A55V	CA1_ENST00000256119.5_Missense_Mutation_p.A55V|CA1_ENST00000431316.1_Missense_Mutation_p.A55V|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.A55V|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Missense_Mutation_p.A55V|CA1_ENST00000523022.1_Missense_Mutation_p.A55V			P00915	CAH1_HUMAN	carbonic anhydrase I	55					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTTGGCTGTGGCTGGGTTGTA	0.418																																																	0													219	225	223					8																	86250552		2203	4300	6503	SO:0001583	missense	0			M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"Carbonic anhydrases"	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.164C>T	8.37:g.86250552G>A	ENSP00000430656:p.Ala55Val			Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.A55V	ENST00000523953.1	37	c.164	CCDS6237.1	8	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629413	0.28978	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	T;T;T;T;T;T;T;T;T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29;-0.29	5.53	2.68	0.31781	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.520199	0.21829	N	0.068502	T	0.59985	0.2234	M	0.67517	2.055	0.09310	N	0.999999	D	0.54047	0.964	B	0.39562	0.303	T	0.56098	-0.8035	10	0.72032	D	0.01	-4.6528	9.2094	0.37309	0.0:0.2654:0.4605:0.2741	.	55	P00915	CAH1_HUMAN	V	55	ENSP00000430656:A55V;ENSP00000256119:A55V;ENSP00000392338:A55V;ENSP00000443517:A55V;ENSP00000401551:A55V;ENSP00000429798:A55V;ENSP00000430861:A55V;ENSP00000429843:A55V;ENSP00000430471:A55V;ENSP00000427852:A55V;ENSP00000430737:A55V;ENSP00000430372:A55V;ENSP00000430975:A55V	ENSP00000256119:A55V	A	-	2	0	CA1	86437804	0.001000	0.12720	0.007000	0.13788	0.441000	0.31987	0.442000	0.21628	0.258000	0.21686	0.591000	0.81541	GCC	CA1	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000133742		0.418	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA1	HGNC	protein_coding	OTTHUMT00000381067.1		0	82	0	G	NM_001738		86250552	-1			no_errors	ENST00000256119	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.061	A	A	86250552	G	A	86250552	3	1	87	1	0	0	0	0	1	0	0	0	2517	1203	42	3	645	3	CA1	8	86250552	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	15576447	86250552	60113470	891	24015											
WWP1	11059	genome.wustl.edu	37	chr8	87443634	87443635	+	Splice_Site	INS	-	-	A																															atactcactttatatttcagINSaaaaaagagtggattcaaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:87443634_87443635insA	ENST00000517970.1	+	13	1694_1695		c.e13-1		WWP1_ENST00000341922.2_Splice_Site|WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000265428.4_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTATATTTCAGAAAAAAGAGTG	0.252																																																	0																																										SO:0001630	splice_region_variant	0			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1388-1->A	8.37:g.87443640_87443640dupA			O00307|Q5YLC1|Q96BP4	Frame_Shift_Ins	INS	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.R465fs	ENST00000517970.1	37	c.1389_1388	CCDS6242.1	8																																																																																			WWP1	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	ENSG00000123124		0.252	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	HGNC	protein_coding	OTTHUMT00000374755.1		0	50	0	-	NM_007013	Intron	87443635	1	tier1		no_errors	ENST00000265428	ensembl	human	known	74_37	frame_shift_ins	30.91	38	17	INS	1.000:1.000	A	A	87443635	-	A	87443634	8	5	87	1	0	1	1	0	0	0	1	0	17464	956	33	0	1429	0	WWP1	8	87443634	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1193082	87443634	58920388	892	24016											
NECAB1	64168	genome.wustl.edu	37	chr8	91962099	91962100	+	Frame_Shift_Ins	INS	-	-	GT																															tgagttctgggagaatagtaINSgtgtatggaataggtaagtt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:91962099_91962100insGT	ENST00000417640.2	+	11	1262_1263	c.925_926insGT	c.(925-927)agtfs	p.S309fs	NECAB1_ENST00000521366.1_Frame_Shift_Ins_p.S58fs|NECAB1_ENST00000522820.1_Frame_Shift_Ins_p.S58fs	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	309	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GGAGAATAGTAGTGTATGGAAT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.928_929dupGT	8.37:g.91962102_91962103dupGT	ENSP00000387380:p.Ser309fs		Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Ins	INS	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.W311fs	ENST00000417640.2	37	c.925_926	CCDS47889.1	8																																																																																			NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel	ENSG00000123119		0.361	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1		0	58	0	-	NM_022351		91962100	1	tier1		no_errors	ENST00000417640	ensembl	human	known	74_37	frame_shift_ins	30.56	50	22	INS	1.000:0.999	GT	GT	91962100	-	GT	91962099	7	5	87	1	0	1	1	0	0	0	0	0	10343	420	15	0	967	0	NECAB1	8	91962099	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	4518465	91962099	54401923	893	24017											
OTUD6B	51633	genome.wustl.edu	37	chr8	92090607	92090607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctgcattggaaaaGgagcgagaagaacggatagc	18	4	14	5	2	0	3	0	0	0	3	0	7	0	6	0	3	5	2	0	3	7	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:92090607G>T	ENST00000285420.4	+	4	528	c.429G>T	c.(427-429)aaG>aaT	p.K143N	OTUD6B_ENST00000404789.3_Missense_Mutation_p.K12N	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	113							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CATTGGAAAAGGAGCGAGAAG	0.363																																																	0													31	33	32					8																	92090607		2199	4297	6496	SO:0001583	missense	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"OTU domain containing"	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.429G>T	8.37:g.92090607G>T	ENSP00000285420:p.Lys143Asn		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.K143N	ENST00000285420.4	37	c.429	CCDS6253.2	8	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335439	0.41398	.	.	ENSG00000155100	ENST00000285420;ENST00000404789	D;T	0.95554	-3.74;0.82	5.95	0.0936	0.14477	.	0.000000	0.85682	D	0.000000	D	0.94509	0.8232	M	0.81341	2.54	0.53688	D	0.999974	P;B	0.46706	0.883;0.245	B;B	0.44224	0.444;0.1	D	0.91347	0.5101	10	0.52906	T	0.07	-21.0367	11.0447	0.47852	0.5285:0.0:0.4715:0.0	.	12;113	B4DEY0;Q8N6M0	.;OTU6B_HUMAN	N	143;12	ENSP00000285420:K143N;ENSP00000384190:K12N	ENSP00000285420:K143N	K	+	3	2	OTUD6B	92159783	1.000000	0.71417	0.671000	0.29857	0.899000	0.52679	1.638000	0.37165	-0.277000	0.09193	-0.145000	0.13849	AAG	OTUD6B	-	NULL	ENSG00000155100		0.363	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	-	0	40	0	G	NM_016023		92090607	1	tier1	-	no_errors	ENST00000285420	ensembl	human	known	74_37	missense	34.88	28	15	SNP	0.997	T	T	92090607	G	T	92090607	3	4	87	1	0	0	0	0	1	0	0	0	11356	991	35	3	443	3	OTUD6B	8	92090607	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	128508	92090607	54273415	894	24018											
SLC26A7	115111	genome.wustl.edu	37	chr8	92352747	92352747	+	Frame_Shift_Del	DEL	A	A	-																															ctcttgctcaaggatctgccAaaaaattcaaatattcaatt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:92352747delA	ENST00000276609.3	+	8	1233	c.994delA	c.(994-996)aaafs	p.K333fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.K333fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.K333fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.K333fs*20(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGGATCTGCCAAAAAATTCAA	0.502																																																	1	Deletion - Frameshift(1)	large_intestine(1)											97	90	92					8																	92352747		2203	4300	6503	SO:0001589	frameshift_variant	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.994delA	8.37:g.92352747delA	ENSP00000276609:p.Lys333fs			Frame_Shift_Del	DEL	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.K333fs	ENST00000276609.3	37	c.994	CCDS6254.1	8																																																																																			SLC26A7	-	pfam_Sulph_transpt	ENSG00000147606		0.502	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1		0	59	0	A			92352747	1	tier1		no_errors	ENST00000309536	ensembl	human	known	74_37	frame_shift_del	13.51	64	10	DEL	1.000	-	-	92352747	A	-	92352747	7	5	87	1	0	1	0	1	0	0	0	0	14567	131	5	0	1020	0	SLC26A7	8	92352747	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	262140	92352747	54011275	895	24019											
TP53INP1	94241	genome.wustl.edu	37	chr8	95952411	95952411	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcactgatgtcctcctcTtcttcttcttcttctgctga	3	20	4	14	0	8	2	1	2	7	0	10	2	10	2	2	0	1	1	2	0	0	6	rs548441545|rs563445319	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:95952411T>C	ENST00000342697.4	-	3	557	c.150A>G	c.(148-150)gaA>gaG	p.E50E	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_Silent_p.E50E|TP53INP1_ENST00000448464.2_Silent_p.E50E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					TGTCCTCCTCTTCTTCTTCTT	0.463													T|||	1	0.000199681	0	0.0014	5008	,	,		21718	0		0	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)											107	117	114					8																	95952411		2203	4300	6503	SO:0001819	synonymous_variant	0			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150A>G	8.37:g.95952411T>C			B2RCE5|Q969R9	Silent	SNP	NULL	p.E50	ENST00000342697.4	37	c.150	CCDS6265.1	8																																																																																			TP53INP1	-	NULL	ENSG00000164938		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP1	HGNC	protein_coding	OTTHUMT00000379818.1	-	0	44	0	T			95952411	-1	tier1	-	no_errors	ENST00000342697	ensembl	human	known	74_37	silent	44.68	26	21	SNP	0.009	C	C	95952411	T	C	95952411	2	2	87	1	0	0	0	0	0	0	0	1	16436	1606	56	4		4	TP53INP1	8	95952411	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3599664	95952411	50411611	896	24020											
MTERFD1	51001	genome.wustl.edu	37	chr8	97263175	97263176	+	Frame_Shift_Ins	INS	-	-	T																															cttcagagaaaattgcatgaINSttttttgtcaggaatgctcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:97263175_97263176insT	ENST00000287025.3	-	4	733_734	c.635_636insA	c.(634-636)aatfs	p.N212fs	MTERFD1_ENST00000522822.1_Frame_Shift_Ins_p.N91fs|MTERFD1_ENST00000524341.1_Frame_Shift_Ins_p.N22fs|MTERFD1_ENST00000523821.1_Frame_Shift_Ins_p.N212fs	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		212					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATTGCATGATTTTTTGTCAG	0.351																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000287025.3:c.636dupA	8.37:g.97263181_97263181dupT	ENSP00000287025:p.Asn212fs		B3KMG6|G3V130|Q9Y301	Frame_Shift_Ins	INS	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.N212fs	ENST00000287025.3	37	c.636_635	CCDS6270.1	8																																																																																			MTERFD1	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	ENSG00000156469		0.351	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD1	HGNC	protein_coding	OTTHUMT00000379876.1		0	71	0	-			97263176	-1	tier1		no_errors	ENST00000287025	ensembl	human	known	74_37	frame_shift_ins	29.35	65	27	INS	0.917:1.000	T	T	97263176	-	T	97263175	7	5	87	1	0	1	1	0	0	0	0	0	9957	330	12	0	637	0	MTERFD1	8	97263175	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1310764	97263175	49100847	897	24021											
RRM2B	50484	genome.wustl.edu	37	chr8	103236304	103236304	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctatctgctatccatcGcaaggcccaatctgcttttt	7	17	5	12	1	3	0	0	0	3	0	5	0	4	0	2	1	2	3	2	1	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103236304G>A	ENST00000251810.3	-	5	763	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Nonsense_Mutation_p.R122*|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	174					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	GCTATCCATCGCAAGGCCCAA	0.338								Modulation of nucleotide pools																																									0													192	201	198					8																	103236304		2203	4300	6503	SO:0001587	stop_gained	0			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.520C>T	8.37:g.103236304G>A	ENSP00000251810:p.Arg174*		B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Nonsense_Mutation	SNP	pfam_RNR_small,superfamily_Ferritin-like_SF	p.R174*	ENST00000251810.3	37	c.520	CCDS34932.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.96|19.96	3.923234|3.923234	0.73213|0.73213	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000535248;ENST00000395912	.|.	.|.	.|.	5.36|5.36	3.48|3.48	0.39840|0.39840	.|.	.|0.409490	.|0.27846	.|N	.|0.017620	T|.	0.40498|.	0.1119|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21143|.	-1.0254|.	4|.	.|0.02654	.|T	.|1	.|.	14.3891|14.3891	0.66965|0.66965	0.0:0.0:0.4417:0.5583|0.0:0.0:0.4417:0.5583	.|.	.|.	.|.	.|.	V|X	230|174;120;122	.|.	.|ENSP00000251810:R174X	A|R	-|-	2|1	0|2	RRM2B|RRM2B	103305480|103305480	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	1.591000|1.591000	0.36665|0.36665	0.656000|0.656000	0.30886|0.30886	0.650000|0.650000	0.86243|0.86243	GCG|CGA	RRM2B	-	pfam_RNR_small,superfamily_Ferritin-like_SF	ENSG00000048392		0.338	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2B	HGNC	protein_coding	OTTHUMT00000380191.3	-	0	48	0	G			103236304	-1	tier1	-	no_errors	ENST00000251810	ensembl	human	known	74_37	nonsense	16.39	51	10	SNP	0.978	A	A	103236304	G	A	103236304	4	1	87	1	0	0	0	0	0	1	0	0	13728	1095	38	1	555	1	RRM2B	8	103236304	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5973129	103236304	43127718	898	24022											
UBR5	51366	genome.wustl.edu	37	chr8	103271268	103271268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgcacattgacttcaccGcagccatttaccaaaagcct	12	11	5	13	1	1	1	1	1	0	0	1	1	1	1	4	0	4	2	4	0	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103271268G>A	ENST00000520539.1	-	57	8652	c.8046C>T	c.(8044-8046)tgC>tgT	p.C2682C	KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000518205.1_Silent_p.C410C|UBR5_ENST00000521922.1_Silent_p.C2675C|UBR5_ENST00000220959.4_Silent_p.C2681C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2682	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGACTTCACCGCAGCCATTTA	0.333																																					Ovarian(131;96 1741 5634 7352 27489)												0													101	104	103					8																	103271268		2203	4300	6503	SO:0001819	synonymous_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8046C>T	8.37:g.103271268G>A			B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.C2682	ENST00000520539.1	37	c.8046	CCDS34933.1	8																																																																																			UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0	42	0	G	NM_015902		103271268	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	silent	8.33	66	6	SNP	1.000	A	A	103271268	G	A	103271268	2	1	87	1	0	0	0	0	0	0	0	1	16954	1079	38	1		1	UBR5	8	103271268	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	34964	103271268	43092754	899	24023											
UBR5	51366	genome.wustl.edu	37	chr8	103309203	103309204	+	Frame_Shift_Ins	INS	-	-	A																															aagccacaagttcgacactcINSaaaaatatcctaaaattaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103309203_103309204insA	ENST00000520539.1	-	28	4188_4189	c.3582_3583insT	c.(3580-3585)tttgagfs	p.E1195fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.E1195fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.E1189fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1195					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GTTCGACACTCAAAAATATCCT	0.322																																					Ovarian(131;96 1741 5634 7352 27489)												0																																										SO:0001589	frameshift_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"Ubiquitin protein ligase E3 component n-recognins"	16806	protein-coding gene	gene with protein product		608413	"E3 ubiquitin protein ligase, HECT domain containing, 1"	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.3583dupT	8.37:g.103309208_103309208dupA	ENSP00000429084:p.Glu1195fs		B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E1194fs	ENST00000520539.1	37	c.3583_3582	CCDS34933.1	8																																																																																			UBR5	-	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	ENSG00000104517		0.322	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2		0	67	0	0	NM_015902		103309204	-1			no_errors	ENST00000520539	ensembl	human	known	74_37	frame_shift_ins	7.69	72	6	INS	1.000:1.000	A	A	103309204	-	A	103309203	7	5	87	1	0	1	1	0	0	0	0	0	16954	835	29	0	4944	0	UBR5	8	103309203	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	37935	103309203	43054819	900	24024											
ODF1	4956	genome.wustl.edu	37	chr8	103572965	103572965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagatcgagtctccttgCtacccttgcacttctccttg	6	14	7	14	1	3	1	1	0	2	1	6	2	3	1	3	0	3	2	3	0	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103572965C>T	ENST00000285402.3	+	2	762	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	202					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCTCCTTGCTACCCTTGCA	0.577																																																	0													103	77	86					8																	103572965		2203	4300	6503	SO:0001819	synonymous_variant	0			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"Heat shock proteins / HSPB"	8113	protein-coding gene	gene with protein product	"cancer/testis antigen 133"	182878	"outer dense fibre of sperm tails 1"			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.606C>T	8.37:g.103572965C>T			Q3SX72	Silent	SNP	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.C202	ENST00000285402.3	37	c.606	CCDS6293.1	8																																																																																			ODF1	-	pfscan_a-crystallin/Hsp20_dom	ENSG00000155087		0.577	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	HGNC	protein_coding	OTTHUMT00000379884.1	-	0	73	0	C			103572965	1	tier1	-	no_errors	ENST00000285402	ensembl	human	known	74_37	silent	7.81	59	5	SNP	0.997	T	T	103572965	C	T	103572965	2	4	87	1	0	0	0	0	0	0	0	1	10865	805	28	3		3	ODF1	8	103572965	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	263762	103572965	42791057	901	24025											
KLF10	7071	genome.wustl.edu	37	chr8	103662433	103662433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttccatctgccagtttggtAgcttcttggctgatagatgg	6	15	11	9	0	2	2	0	1	2	1	3	2	3	2	2	3	2	4	2	3	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:103662433A>G	ENST00000285407.6	-	4	1670	c.1370T>C	c.(1369-1371)cTa>cCa	p.L457P	KLF10_ENST00000395884.3_Missense_Mutation_p.L446P	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	457					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CCAGTTTGGTAGCTTCTTGGC	0.527																																					Esophageal Squamous(16;495 519 2144 16528 44005)												0													162	138	146					8																	103662433		2203	4300	6503	SO:0001583	missense	0			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11810	protein-coding gene	gene with protein product		601878	"TGFB inducible early growth response"	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.1370T>C	8.37:g.103662433A>G	ENSP00000285407:p.Leu457Pro		A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L457P	ENST00000285407.6	37	c.1370	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856046	0.51376	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14766	2.48;2.54	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000020	T	0.28962	0.0719	L	0.43152	1.355	0.80722	D	1	B;D	0.71674	0.249;0.998	B;D	0.63488	0.336;0.915	T	0.00756	-1.1579	10	0.59425	D	0.04	.	16.1354	0.81481	1.0:0.0:0.0:0.0	.	457;446	Q13118;O75411	KLF10_HUMAN;.	P	457;446	ENSP00000285407:L457P;ENSP00000379222:L446P	ENSP00000285407:L457P	L	-	2	0	KLF10	103731609	0.929000	0.31497	1.000000	0.80357	0.993000	0.82548	3.024000	0.49674	2.207000	0.71202	0.533000	0.62120	CTA	KLF10	-	NULL	ENSG00000155090		0.527	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	HGNC	protein_coding	OTTHUMT00000379967.1	-	0	51	0	A			103662433	-1	tier1	-	no_errors	ENST00000285407	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.943	G	G	103662433	A	G	103662433	3	3	87	1	0	0	0	0	1	0	0	0	8365	420	15	4	76	4	KLF10	8	103662433	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	89468	103662433	42701589	902	24026											
BAALC	79870	genome.wustl.edu	37	chr8	104225196	104225196	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgtgccccgatctacagcCccaggtggaatacccaaccc	9	6	10	16	1	1	0	0	0	1	0	1	2	1	1	6	3	5	0	6	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:104225196C>A	ENST00000297574.6	+	3	454	c.315C>A	c.(313-315)gcC>gcA	p.A105A	BAALC_ENST00000309982.5_Silent_p.A70A|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA|BAALC_ENST00000438105.2_Intron			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic	105						cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GATCTACAGCCCCAGGTGGAA	0.567																																																	0													136	119	125					8																	104225196		2203	4300	6503	SO:0001819	synonymous_variant	0			AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.315C>A	8.37:g.104225196C>A			Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Silent	SNP	pfam_BAALC	p.A105	ENST00000297574.6	37	c.315		8																																																																																			BAALC	-	NULL	ENSG00000164929		0.567	BAALC-003	KNOWN	basic	protein_coding	BAALC	HGNC	protein_coding	OTTHUMT00000380257.1	-	0	76	0	C			104225196	1	tier1	-	no_errors	ENST00000297574	ensembl	human	known	74_37	silent	44.05	47	37	SNP	0.483	A	A	104225196	C	A	104225196	2	1	87	1	0	0	0	0	0	0	0	1	1280	610	22	3		3	BAALC	8	104225196	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	562763	104225196	42138826	903	24027											
DCAF13	81034	genome.wustl.edu	37	chr8	104427646	104427646	+	5'Flank	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactcctagcggacacctCgtggagtccggccggaagag	9	5	15	12	4	0	1	0	0	0	1	3	5	2	5	4	5	2	0	4	5	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:104427646C>A	ENST00000297578.4	-	0	0				SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Nonsense_Mutation_p.S143*|DCAF13_ENST00000521971.1_De_novo_Start_OutOfFrame|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000519682.1_De_novo_Start_OutOfFrame|DCAF13_ENST00000521716.1_De_novo_Start_OutOfFrame	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GCGGACACCTCGTGGAGTCCG	0.602																																																	0													33	38	36					8																	104427646		2203	4299	6502	SO:0001631	upstream_gene_variant	0			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"Solute carriers"	29683	protein-coding gene	gene with protein product		610815	"solute carrier family 25, member 32"			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427646C>A	Exception_encountered		Q96JZ6|Q96SU7	Nonsense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S143*	ENST00000297578.4	37	c.428	CCDS6300.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.825872	0.96996	.	.	ENSG00000164934	ENST00000297579	.	.	.	3.99	-0.946	0.10385	.	.	.	.	.	.	.	.	.	.	.	0.21652	N	0.999607	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9663	5.7976	0.18396	0.0:0.5486:0.1306:0.3208	.	.	.	.	X	143	.	ENSP00000297579:S143X	S	+	2	0	DCAF13	104496822	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.071000	0.14594	-0.206000	0.10203	-0.302000	0.09304	TCG	DCAF13	-	NULL	ENSG00000164934		0.602	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380290.2	-	0	27	0	C	NM_030780		104427646	1	tier1	-	no_errors	ENST00000297579	ensembl	human	known	74_37	nonsense	28.57	20	8	SNP	0.002	A	A	104427646	C	A	104427646	1	1	87	0	1	0	0	0	0	0	0	0	4275	893	31	2		2	DCAF13	8	104427646	5'Flank	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	202450	104427646	41936376	904	24028											
LRP12	29967	genome.wustl.edu	37	chr8	105510178	105510178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaggatttgcttctttgGcacagatctcttcatcggaa	8	15	10	8	1	3	1	1	0	2	1	5	4	3	4	0	4	1	2	0	4	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:105510178G>T	ENST00000276654.5	-	5	710	c.602C>A	c.(601-603)gCc>gAc	p.A201D	LRP12_ENST00000424843.2_Missense_Mutation_p.A182D|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	201	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGCTTCTTTGGCACAGATCTC	0.433																																																	0													205	182	190					8																	105510178		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.602C>A	8.37:g.105510178G>T	ENSP00000276654:p.Ala201Asp		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.A182D	ENST00000276654.5	37	c.545	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	12.06	1.826052	0.32237	.	.	ENSG00000147650	ENST00000424843;ENST00000276654	D;D	0.83591	-1.74;-1.68	5.38	3.54	0.40534	.	0.281816	0.39146	N	0.001442	T	0.69940	0.3167	N	0.25957	0.775	0.80722	D	1	P;B	0.35656	0.514;0.38	B;B	0.34138	0.176;0.085	T	0.63075	-0.6718	10	0.32370	T	0.25	-4.2766	8.4008	0.32586	0.1411:0.1287:0.7302:0.0	.	182;201	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	D	182;201	ENSP00000399148:A182D;ENSP00000276654:A201D	ENSP00000276654:A201D	A	-	2	0	LRP12	105579354	1.000000	0.71417	0.942000	0.38095	0.938000	0.57974	2.474000	0.45154	0.605000	0.29947	0.563000	0.77884	GCC	LRP12	-	smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000147650		0.433	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	73	0	G	NM_013437		105510178	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	27.40	53	20	SNP	1.000	T	T	105510178	G	T	105510178	3	4	87	1	0	0	0	0	1	0	0	0	8989	1203	42	3	1989	3	LRP12	8	105510178	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1082532	105510178	40853844	905	24029											
TRPS1	7227	genome.wustl.edu	37	chr8	116617171	116617171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagcggaaatacttggtgTtcccttggcaatctggtgtt	8	14	11	8	1	1	0	0	0	1	0	2	1	2	1	1	4	3	3	1	4	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116617171T>C	ENST00000220888.5	-	3	1145	c.986A>G	c.(985-987)aAc>aGc	p.N329S	TRPS1_ENST00000519076.1_Missense_Mutation_p.N283S|TRPS1_ENST00000395715.3_Missense_Mutation_p.N342S|TRPS1_ENST00000520276.1_Missense_Mutation_p.N333S|TRPS1_ENST00000519674.1_Missense_Mutation_p.N329S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	329					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATACTTGGTGTTCCCTTGGCA	0.408									Langer-Giedion syndrome																																								0													93	90	91					8																	116617171		1901	4118	6019	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.986A>G	8.37:g.116617171T>C	ENSP00000220888:p.Asn329Ser		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.N342S	ENST00000220888.5	37	c.1025		8	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913344	0.72983	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	N	0.24115	0.695	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.80764	0.994;0.985;0.994	T	0.02991	-1.1085	10	0.87932	D	0	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	333;329;342	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	S	342;329;283;333;329	ENSP00000379065:N342S;ENSP00000220888:N329S;ENSP00000428910:N283S;ENSP00000428680:N333S;ENSP00000429174:N329S	ENSP00000220888:N329S	N	-	2	0	TRPS1	116686346	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.997000	0.88414	2.291000	0.77112	0.533000	0.62120	AAC	TRPS1	-	NULL	ENSG00000104447		0.408	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	42	0	T	NM_014112		116617171	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	12.70	55	8	SNP	1.000	C	C	116617171	T	C	116617171	3	2	87	1	0	0	0	0	1	0	0	0	16641	1725	60	4	2875	4	TRPS1	8	116617171	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	11106993	116617171	29746851	906	24030											
TRPS1	7227	genome.wustl.edu	37	chr8	116631988	116631988	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcacctcatcatgcggaaAggagggaaagtttcctccct	10	10	10	11	1	3	0	3	0	0	0	5	3	5	3	3	3	1	1	3	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116631988A>C	ENST00000220888.5	-	2	457	c.298T>G	c.(298-300)Ttt>Gtt	p.F100V	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000395715.3_Missense_Mutation_p.F113V|TRPS1_ENST00000520276.1_Missense_Mutation_p.F104V|TRPS1_ENST00000519674.1_Missense_Mutation_p.F100V			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	100					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCATGCGGAAAGGAGGGAAAG	0.498									Langer-Giedion syndrome																																								0													83	79	80					8																	116631988		1918	4135	6053	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.298T>G	8.37:g.116631988A>C	ENSP00000220888:p.Phe100Val		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.F113V	ENST00000220888.5	37	c.337		8	.	.	.	.	.	.	.	.	.	.	A	13.67	2.305260	0.40795	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674;ENST00000395713	D;D;D;T	0.98926	-5.24;-5.21;-5.21;0.58	5.82	4.65	0.58169	.	0.556675	0.18234	N	0.147480	D	0.95837	0.8645	N	0.24115	0.695	0.36426	D	0.864636	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.006;0.002;0.006	D	0.94285	0.7523	10	0.87932	D	0	4.0057	11.1247	0.48310	0.9253:0.0:0.0747:0.0	.	104;100;113	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	V	113;100;104;100;113	ENSP00000379065:F113V;ENSP00000220888:F100V;ENSP00000428680:F104V;ENSP00000429174:F100V	ENSP00000220888:F100V	F	-	1	0	TRPS1	116701163	1.000000	0.71417	0.958000	0.39756	0.976000	0.68499	4.152000	0.58111	1.012000	0.39366	0.528000	0.53228	TTT	TRPS1	-	NULL	ENSG00000104447		0.498	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	37	0	A	NM_014112		116631988	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.994	C	C	116631988	A	C	116631988	3	2	87	1	0	0	0	0	1	0	0	0	16641	72	3	4	3567	4	TRPS1	8	116631988	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	14817	116631988	29732034	907	24031											
TRPS1	7227	genome.wustl.edu	37	chr8	116632237	116632237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctccaggatctggccctCgccttcacttgcaacgtttc	6	11	9	15	2	2	0	1	0	1	0	5	1	3	1	3	3	2	3	3	3	1	3	rs371442998		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:116632237C>T	ENST00000220888.5	-	2	208	c.49G>A	c.(49-51)Gag>Aag	p.E17K	TRPS1_ENST00000519076.1_Missense_Mutation_p.E17K|TRPS1_ENST00000395715.3_Missense_Mutation_p.E30K|TRPS1_ENST00000520276.1_Missense_Mutation_p.E21K|TRPS1_ENST00000519674.1_Missense_Mutation_p.E17K			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	17					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E30Q(1)|p.E17Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATCTGGCCCTCGCCTTCACTT	0.438									Langer-Giedion syndrome				C|||	1	0.000199681	0	0	5008	,	,		17015	0		0	False		,,,				2504	0.001																2	Substitution - Missense(2)	lung(2)						C	LYS/GLU	0,3680		0,0,1840	84	77	79		88	5.8	1	8		79	1,8191		0,1,4095	no	missense	TRPS1	NM_014112.2	56	0,1,5935	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	30/1295	116632237	1,11871	1840	4096	5936	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.49G>A	8.37:g.116632237C>T	ENSP00000220888:p.Glu17Lys		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.E30K	ENST00000220888.5	37	c.88		8	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680764	0.88542	0.0	1.22E-4	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674;ENST00000395713;ENST00000519815;ENST00000422939	D;D;D;D;T	0.99292	-5.36;-5.33;-5.7;-5.33;0.46	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	D	0.98887	0.9623	L	0.27053	0.805	0.58432	D	0.999998	D;D;D	0.65815	0.995;0.992;0.995	D;D;D	0.70716	0.97;0.935;0.97	D	0.99937	1.1373	10	0.87932	D	0	-10.2354	20.0966	0.97849	0.0:1.0:0.0:0.0	.	21;17;30	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	K	30;17;17;21;17;30;30;30	ENSP00000379065:E30K;ENSP00000220888:E17K;ENSP00000428910:E17K;ENSP00000428680:E21K;ENSP00000429174:E17K	ENSP00000220888:E17K	E	-	1	0	TRPS1	116701412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.940000	0.75917	2.751000	0.94390	0.650000	0.86243	GAG	TRPS1	-	NULL	ENSG00000104447		0.438	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3		0	52	0	C	NM_014112		116632237	-1			no_errors	ENST00000395715	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	116632237	C	T	116632237	3	4	87	1	0	0	0	0	1	0	0	0	16641	893	31	1	3816	1	TRPS1	8	116632237	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	249	116632237	29731785	908	24032											
RAD21	5885	genome.wustl.edu	37	chr8	117862896	117862898	+	In_Frame_Del	DEL	CTT	CTT	-																															tctttttccttctctttctcCttctctttttctggcagaag																								rs201422711		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:117862896_117862898delCTT	ENST00000297338.2	-	12	1866_1868	c.1579_1581delAAG	c.(1579-1581)aagdel	p.K527del	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_In_Frame_Del_p.K72del|RAD21_ENST00000523986.1_In_Frame_Del_p.K31del	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	527					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					tctctttctccttctctttttcT	0.379																																																	0																																										SO:0001651	inframe_deletion	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1579_1581delAAG	8.37:g.117862896_117862898delCTT	ENSP00000297338:p.Lys527del		A8K0E0|Q15001|Q99568	In_Frame_Del	DEL	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu,pfam_ScpA	p.K527in_frame_del	ENST00000297338.2	37	c.1581_1579	CCDS6321.1	8																																																																																			RAD21	-	pfam_ScpA	ENSG00000164754		0.379	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	HGNC	protein_coding	OTTHUMT00000381184.1		0	68	0	CTT	NM_006265		117862898	-1	tier1		no_errors	ENST00000297338	ensembl	human	known	74_37	in_frame_del	22.95	47	14	DEL	1.000:1.000:1.000	-	-	117862898	CTT	-	117862896	7	5	87	1	0	1	0	1	0	0	0	0	13026	680	24	0	326	0	RAD21	8	117862896	In_Frame_Del	DEL	CTT	TCGA-L5-A8NM-01A-11D-A37C-09	1230659	117862896	28501126	909	24033											
TAF2	6873	genome.wustl.edu	37	chr8	120744196	120744196	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagaacgaatagaccTgccactggcagggctggaga	13	4	16	8	1	0	3	0	0	0	3	0	7	0	4	2	5	2	2	2	5	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:120744196T>G	ENST00000378164.2	-	26	3866	c.3568A>C	c.(3568-3570)Agg>Cgg	p.R1190R		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1190					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGAATAGACCTGCCACTGGCA	0.423																																																	0													223	190	201					8																	120744196		2203	4300	6503	SO:0001819	synonymous_variant	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3568A>C	8.37:g.120744196T>G			B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.R1190	ENST00000378164.2	37	c.3568	CCDS34937.1	8																																																																																			TAF2	-	NULL	ENSG00000064313		0.423	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	-	0	57	0	T	NM_003184		120744196	-1	tier1	-	no_errors	ENST00000378164	ensembl	human	known	74_37	silent	36.36	35	20	SNP	1.000	G	G	120744196	T	G	120744196	2	3	87	1	0	0	0	0	0	0	0	1	15571	1579	55	4		4	TAF2	8	120744196	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2881300	120744196	25619826	910	24034											
ZHX2	22882	genome.wustl.edu	37	chr8	123963925	123963925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaactcttccaaagaaaacGaagtgatagaggtgaaatct	19	8	8	6	1	2	4	0	2	2	2	3	5	3	4	1	1	2	0	1	1	8	2	rs373708916		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:123963925G>A	ENST00000314393.4	+	3	1010	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	59					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CAAAGAAAACGAAGTGATAGA	0.488																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)												0								G	LYS/GLU	0,4406		0,0,2203	70	64	66		175	5.4	1	8		66	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZHX2	NM_014943.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	59/838	123963925	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	18513	protein-coding gene	gene with protein product		609185	"zinc-fingers and homeoboxes 2"			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.175G>A	8.37:g.123963925G>A	ENSP00000314709:p.Glu59Lys			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E59K	ENST00000314393.4	37	c.175	CCDS6336.1	8	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723062	0.48728	0.0	1.16E-4	ENSG00000178764	ENST00000314393	T	0.50548	0.74	5.39	5.39	0.77823	.	0.285014	0.38217	N	0.001766	T	0.44726	0.1307	L	0.56769	1.78	0.40955	D	0.984576	P	0.36483	0.555	B	0.24974	0.057	T	0.53229	-0.8468	10	0.62326	D	0.03	-11.3266	19.1372	0.93433	0.0:0.0:1.0:0.0	.	59	Q9Y6X8	ZHX2_HUMAN	K	59	ENSP00000314709:E59K	ENSP00000314709:E59K	E	+	1	0	ZHX2	124033106	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	8.908000	0.92640	2.531000	0.85337	0.455000	0.32223	GAA	ZHX2	-	NULL	ENSG00000178764		0.488	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZHX2	HGNC	protein_coding	OTTHUMT00000381709.1	-	0	36	0	G	NM_014943		123963925	1	tier1	-	no_errors	ENST00000314393	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.903	A	A	123963925	G	A	123963925	3	1	87	1	0	0	0	0	1	0	0	0	17724	1059	37	1	177	1	ZHX2	8	123963925	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3219729	123963925	22400097	911	24035											
ZHX1	11244	genome.wustl.edu	37	chr8	124266180	124266180	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagcatgtgcagctgctcAggtgtttttttacatatctt	8	18	8	7	0	2	0	1	0	1	0	2	0	2	0	0	1	5	5	0	1	3	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:124266180A>G	ENST00000522655.1	-	3	2547	c.2007T>C	c.(2005-2007)ccT>ccC	p.P669P	ZHX1_ENST00000297857.2_Silent_p.P669P|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Silent_p.P669P|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	669					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGCTGCTCAGGTGTTTTTT	0.473																																																	0													112	107	109					8																	124266180		2203	4300	6503	SO:0001819	synonymous_variant	0			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	12871	protein-coding gene	gene with protein product		604764	"zinc-fingers and homeoboxes 1"			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2007T>C	8.37:g.124266180A>G			Q8IWD8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P669	ENST00000522655.1	37	c.2007	CCDS6342.1	8	.	.	.	.	.	.	.	.	.	.	A	4.351	0.064701	0.08388	.	.	ENSG00000165156	ENST00000520474	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52139	-0.8615	4	.	.	.	-7.5012	3.4769	0.07587	0.0949:0.2454:0.3471:0.3126	.	.	.	.	P	354	.	.	L	-	2	0	ZHX1	124335361	0.000000	0.05858	0.021000	0.16686	0.966000	0.64601	-4.013000	0.00313	-3.889000	0.00094	-0.388000	0.06559	CTG	ZHX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165156		0.473	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZHX1	HGNC	protein_coding	OTTHUMT00000381759.1	-	0	44	0	A			124266180	-1	tier1	-	no_errors	ENST00000297857	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.001	G	G	124266180	A	G	124266180	2	3	87	1	0	0	0	0	0	0	0	1	17723	175	7	4		4	ZHX1	8	124266180	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	302255	124266180	22097842	912	24036											
FER1L6	654463	genome.wustl.edu	37	chr8	125033884	125033884	+	Frame_Shift_Del	DEL	A	A	-																															cgaagcccaaaactttgtggAaaaaatccgctttcttgttg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:125033884delA	ENST00000522917.1	+	17	2314	c.2108delA	c.(2107-2109)gaafs	p.E703fs	FER1L6_ENST00000399018.1_Frame_Shift_Del_p.E703fs|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	703						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACTTTGTGGAAAAAATCCGC	0.413																																																	0													93	89	91					8																	125033884		1883	4103	5986	SO:0001589	frameshift_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2108delA	8.37:g.125033884delA	ENSP00000428280:p.Glu703fs			Frame_Shift_Del	DEL	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.I705fs	ENST00000522917.1	37	c.2108	CCDS43767.1	8																																																																																			FER1L6	-	NULL	ENSG00000214814		0.413	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1		0	47	0	A	NM_001039112		125033884	1	tier1		no_errors	ENST00000399018	ensembl	human	known	74_37	frame_shift_del	12.00	66	9	DEL	0.993	-	-	125033884	A	-	125033884	7	5	87	1	0	1	0	1	0	0	0	0	5837	246	9	0	2170	0	FER1L6	8	125033884	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	767704	125033884	21330138	913	24037											
ADCY8	114	genome.wustl.edu	37	chr8	132051742	132051742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcatactgtaggtggCgaagagcgtgaagagcacgt	11	6	16	8	4	0	3	0	1	0	2	0	4	0	3	0	3	4	4	0	3	4	2	rs377243453		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:132051742C>T	ENST00000286355.5	-	1	2930	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A280T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	280					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGTAGGTGGCGAAGAGCGTG	0.667										HNSCC(32;0.087)																																							0								C	THR/ALA	0,4406		0,0,2203	46	46	46		838	5.5	1	8		46	1,8597	1.2+/-3.3	0,1,4298	no	missense	ADCY8	NM_001115.2	58	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	280/1252	132051742	1,13003	2203	4299	6502	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.838G>A	8.37:g.132051742C>T	ENSP00000286355:p.Ala280Thr			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A280T	ENST00000286355.5	37	c.838	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735729	0.69189	0.0	1.16E-4	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.47869	0.83;0.83	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.58323	0.2114	L	0.35341	1.055	0.54753	D	0.999986	D;D	0.76494	0.999;0.981	D;B	0.72625	0.978;0.299	T	0.52170	-0.8611	10	0.28530	T	0.3	.	18.2863	0.90115	0.0:1.0:0.0:0.0	.	280;280	E7EVL1;P40145	.;ADCY8_HUMAN	T	280	ENSP00000286355:A280T;ENSP00000367161:A280T	ENSP00000286355:A280T	A	-	1	0	ADCY8	132120924	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	7.463000	0.80869	2.580000	0.87095	0.455000	0.32223	GCC	ADCY8	-	NULL	ENSG00000155897		0.667	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1		0	36	0	C			132051742	-1			no_errors	ENST00000286355	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	132051742	C	T	132051742	3	4	87	1	0	0	0	0	1	0	0	0	300	768	27	1	2989	1	ADCY8	8	132051742	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	7017858	132051742	14312280	914	24038											
ADCY8	114	genome.wustl.edu	37	chr8	132052482	132052482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgccacagcagccgctgcGgccgggaggcgctcctgccg	4	5	15	17	5	1	0	0	0	1	0	2	1	2	1	5	3	5	3	5	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:132052482G>A	ENST00000286355.5	-	1	2190	c.98C>T	c.(97-99)cCg>cTg	p.P33L	ADCY8_ENST00000377928.3_Missense_Mutation_p.P33L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	33					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGCCGCTGCGGCCGGGAGGC	0.716										HNSCC(32;0.087)																																							0													3	4	3					8																	132052482		1742	3580	5322	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.98C>T	8.37:g.132052482G>A	ENSP00000286355:p.Pro33Leu			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P33L	ENST00000286355.5	37	c.98	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702775	0.68501	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.63913	-0.07;-0.07	4.55	4.55	0.56014	.	0.167503	0.39146	N	0.001459	T	0.71039	0.3293	L	0.36672	1.1	0.58432	D	0.999997	D;P	0.89917	1.0;0.764	D;B	0.81914	0.995;0.141	T	0.74297	-0.3711	10	0.66056	D	0.02	.	16.0405	0.80679	0.0:0.0:1.0:0.0	.	33;33	E7EVL1;P40145	.;ADCY8_HUMAN	L	33	ENSP00000286355:P33L;ENSP00000367161:P33L	ENSP00000286355:P33L	P	-	2	0	ADCY8	132121664	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.496000	0.73670	2.383000	0.81215	0.462000	0.41574	CCG	ADCY8	-	NULL	ENSG00000155897		0.716	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	20	0	G			132052482	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A	A	132052482	G	A	132052482	3	1	87	1	0	0	0	0	1	0	0	0	300	1116	39	1	3729	1	ADCY8	8	132052482	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	740	132052482	14311540	915	24039											
WISP1	8840	genome.wustl.edu	37	chr8	134232957	134232957	+	Frame_Shift_Del	DEL	C	C	-																															ccactgtgcctccgagtgcgCcccccgcgtctctggtgccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:134232957delC	ENST00000250160.6	+	3	589	c.483delC	c.(481-483)cgcfs	p.R161fs	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	161	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCCGAGTGCGCCCCCCGCGTC	0.652																																																	0													59	54	55					8																	134232957		2203	4299	6502	SO:0001589	frameshift_variant	0			AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.483delC	8.37:g.134232957delC	ENSP00000250160:p.Arg161fs		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Frame_Shift_Del	DEL	pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.P163fs	ENST00000250160.6	37	c.483	CCDS6371.1	8																																																																																			WISP1	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000104415		0.652	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP1	HGNC	protein_coding	OTTHUMT00000378794.2		0	57	0	C	NM_003882		134232957	1	tier1		no_errors	ENST00000250160	ensembl	human	known	74_37	frame_shift_del	12.07	51	7	DEL	0.918	-	-	134232957	C	-	134232957	7	5	87	1	0	1	0	1	0	0	0	0	17421	726	26	0	493	0	WISP1	8	134232957	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	2180475	134232957	12131065	916	24040											
FAM135B	51059	genome.wustl.edu	37	chr8	139209858	139209858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaacaggcacaggtctcGgtgccacttgtgtgcgtgct	7	9	14	11	2	1	0	0	0	1	0	2	1	1	0	1	3	5	3	1	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:139209858G>A	ENST00000395297.1	-	8	894	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	242								p.R242R(2)|p.R242*(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGGTCTCGGTGCCACTTG	0.577										HNSCC(54;0.14)																																							4	Substitution - Nonsense(2)|Substitution - coding silent(2)	large_intestine(2)|lung(2)											89	105	99					8																	139209858		2159	4277	6436	SO:0001587	stop_gained	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.724C>T	8.37:g.139209858G>A	ENSP00000378710:p.Arg242*		B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.R242*	ENST00000395297.1	37	c.724	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	39	7.326279	0.98214	.	.	ENSG00000147724	ENST00000395297	.	.	.	4.74	4.74	0.60224	.	0.170571	0.39341	N	0.001383	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.303	13.1038	0.59235	0.0:0.0:1.0:0.0	.	.	.	.	X	242	.	ENSP00000276737:R242X	R	-	1	2	FAM135B	139279040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.019000	0.49635	2.473000	0.83533	0.563000	0.77884	CGA	FAM135B	-	NULL	ENSG00000147724		0.577	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0	41	0	G	NM_015912		139209858	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	nonsense	36.36	21	12	SNP	1.000	A	A	139209858	G	A	139209858	4	1	87	1	0	0	0	0	0	1	0	0	5468	1124	39	1	3548	1	FAM135B	8	139209858	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4976901	139209858	7154164	917	24041											
COL22A1	169044	genome.wustl.edu	37	chr8	139706798	139706798	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattctccaggacggccctGcagtccctgtaagcacacaa	11	7	8	15	1	1	0	0	0	1	0	3	1	2	1	3	2	2	3	3	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:139706798G>A	ENST00000303045.6	-	34	3099	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q885*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	885	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACGGCCCTGCAGTCCCTGT	0.577										HNSCC(7;0.00092)																																							0													86	75	79					8																	139706798		2203	4300	6503	SO:0001587	stop_gained	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2653C>T	8.37:g.139706798G>A	ENSP00000303153:p.Gln885*		B7ZMH0|C9K0G4|Q8IVT9	Nonsense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.Q885*	ENST00000303045.6	37	c.2653	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.364002	0.98779	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	3.7	3.7	0.42460	.	1.038910	0.07706	U	0.941303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2456	0.48996	0.0:0.0:1.0:0.0	.	.	.	.	X	885;885;598	.	ENSP00000303153:Q885X	Q	-	1	0	COL22A1	139775980	0.017000	0.18338	0.005000	0.12908	0.031000	0.12232	2.135000	0.42112	2.373000	0.80994	0.655000	0.94253	CAG	COL22A1	-	pfam_Collagen	ENSG00000169436		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	43	0	G	XM_291257		139706798	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	nonsense	11.32	47	6	SNP	0.005	A	A	139706798	G	A	139706798	4	1	87	1	0	0	0	0	0	1	0	0	3688	1328	46	3	2355	3	COL22A1	8	139706798	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	496940	139706798	6657224	918	24042											
GPR20	2843	genome.wustl.edu	37	chr8	142367933	142367933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtggaacaggggcacctCcagcccgctggcattggtcc	7	6	14	14	1	0	0	0	0	0	0	2	1	2	1	4	6	2	3	4	6	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:142367933C>T	ENST00000377741.3	-	2	181	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	31					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			AGGGGCACCTCCAGCCCGCTG	0.682																																																	0													45	44	45					8																	142367933		2203	4300	6503	SO:0001583	missense	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"GPCR / Class A : Orphans"	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.91G>A	8.37:g.142367933C>T	ENSP00000366970:p.Glu31Lys		Q17R96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E31K	ENST00000377741.3	37	c.91	CCDS34949.1	8	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882514	0.33255	.	.	ENSG00000204882	ENST00000377741	T	0.60797	0.16	3.68	3.68	0.42216	.	0.572132	0.15765	N	0.245738	T	0.39118	0.1066	L	0.27053	0.805	0.36044	D	0.840314	B	0.30482	0.281	B	0.24974	0.057	T	0.37126	-0.9719	10	0.07175	T	0.84	-8.6862	13.2571	0.60085	0.0:1.0:0.0:0.0	.	31	Q99678	GPR20_HUMAN	K	31	ENSP00000366970:E31K	ENSP00000366970:E31K	E	-	1	0	GPR20	142437115	0.120000	0.22244	0.034000	0.17996	0.087000	0.18053	2.836000	0.48183	1.766000	0.52107	0.561000	0.74099	GAG	GPR20	-	NULL	ENSG00000204882		0.682	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0	104	0	C	NM_005293		142367933	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	missense	11.43	93	12	SNP	0.809	T	T	142367933	C	T	142367933	3	4	87	1	0	0	0	0	1	0	0	0	6706	864	30	3	989	3	GPR20	8	142367933	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2661135	142367933	3996089	919	24043											
CYP11B2	1585	genome.wustl.edu	37	chr8	143994125	143994125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcgacccagcgagtagaGgaaaacctgtaccaatgtct	13	8	10	10	2	1	1	0	0	1	1	1	4	1	2	3	1	4	2	3	1	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:143994125G>T	ENST00000323110.2	-	8	1221	c.1219C>A	c.(1219-1221)Ctc>Atc	p.L407I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	407					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGCGAGTAGAGGAAAACCTGT	0.617									Familial Hyperaldosteronism type I																																								0													95	90	92					8																	143994125		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1219C>A	8.37:g.143994125G>T	ENSP00000325822:p.Leu407Ile		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.L407I	ENST00000323110.2	37	c.1219	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	18.38	3.611583	0.66558	.	.	ENSG00000179142	ENST00000323110	T	0.70164	-0.46	3.52	3.52	0.40303	.	0.000000	0.43919	D	0.000504	T	0.59959	0.2232	L	0.35793	1.09	0.47698	D	0.999492	P	0.35174	0.488	B	0.42625	0.393	T	0.56135	-0.8029	10	0.22109	T	0.4	.	12.9218	0.58237	0.0:0.0:1.0:0.0	.	407	P19099	C11B2_HUMAN	I	407	ENSP00000325822:L407I	ENSP00000325822:L407I	L	-	1	0	CYP11B2	143991127	1.000000	0.71417	0.017000	0.16124	0.004000	0.04260	3.723000	0.54955	1.937000	0.56155	0.563000	0.77884	CTC	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B	ENSG00000179142		0.617	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	-	0	105	0	G			143994125	-1	tier1	-	no_errors	ENST00000323110	ensembl	human	known	74_37	missense	9.02	111	11	SNP	0.881	T	T	143994125	G	T	143994125	3	4	87	1	0	0	0	0	1	0	0	0	4155	1000	35	3	300	3	CYP11B2	8	143994125	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1626192	143994125	2369897	920	24044											
ZC3H3	23144	genome.wustl.edu	37	chr8	144621273	144621273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacggccgcacagcatggtcGgcaggagggtctgagggtcc	8	5	17	11	3	1	1	0	1	1	0	3	2	2	2	2	6	2	3	2	6	1	0	rs372924588		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144621273G>A	ENST00000262577.5	-	2	295	c.264C>T	c.(262-264)gcC>gcT	p.A88A	RP11-661A12.5_ENST00000530600.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	88					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGCATGGTCGGCAGGAGGGT	0.667																																																	0								G		1,4405		0,1,2202	49	51	51		264	-9.3	0	8		51	0,8592		0,0,4296	no	coding-synonymous	ZC3H3	NM_015117.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		88/949	144621273	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"Zinc fingers, CCCH-type domain containing"	28972	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 3"	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.264C>T	8.37:g.144621273G>A			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A88	ENST00000262577.5	37	c.264	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2	-	0	92	0	G	NM_015117		144621273	-1	tier1	-	no_errors	ENST00000262577	ensembl	human	known	74_37	silent	9.18	89	9	SNP	0.000	A	A	144621273	G	A	144621273	2	1	87	1	0	0	0	0	0	0	0	1	17617	1103	39	1		1	ZC3H3	8	144621273	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	627148	144621273	1742749	921	24045											
FAM83H	286077	genome.wustl.edu	37	chr8	144809053	144809053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattatggagcacctggtGcgctccggacccttccagcg	6	9	11	15	3	1	0	1	0	0	0	3	2	3	2	4	3	3	2	4	3	1	2	rs367570466		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144809053G>A	ENST00000388913.3	-	5	2703	c.2578C>T	c.(2578-2580)Cac>Tac	p.H860Y		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	860					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCACCTGGTGCGCTCCGGAC	0.657																																																	0													18	19	19					8																	144809053		1953	4131	6084	SO:0001583	missense	0			AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.2578C>T	8.37:g.144809053G>A	ENSP00000373565:p.His860Tyr		A0JLS2|Q8N4W0	Missense_Mutation	SNP	pfam_DUF1669	p.H860Y	ENST00000388913.3	37	c.2578	CCDS6410.2	8	.	.	.	.	.	.	.	.	.	.	g	2.661	-0.279792	0.05642	.	.	ENSG00000180921	ENST00000388913	T	0.14766	2.48	3.61	2.72	0.32119	.	4.740920	0.00575	N	0.000318	T	0.11196	0.0273	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	10	0.54805	T	0.06	.	9.0131	0.36153	0.1164:0.0:0.8836:0.0	.	860	Q6ZRV2	FA83H_HUMAN	Y	860	ENSP00000373565:H860Y	ENSP00000373565:H860Y	H	-	1	0	FAM83H	144881041	0.809000	0.29036	0.001000	0.08648	0.010000	0.07245	3.070000	0.50033	0.609000	0.30018	0.486000	0.48141	CAC	FAM83H	-	NULL	ENSG00000180921		0.657	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83H	HGNC	protein_coding	OTTHUMT00000257632.2	-	0	60	0	G	NM_198488		144809053	-1	tier1	-	no_errors	ENST00000388913	ensembl	human	known	74_37	missense	8.86	72	7	SNP	0.015	A	A	144809053	G	A	144809053	3	1	87	1	0	0	0	0	1	0	0	0	5662	1319	46	3	965	3	FAM83H	8	144809053	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	187780	144809053	1554969	922	24046											
SCRIB	23513	genome.wustl.edu	37	chr8	144873383	144873383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggccttacggggcggcGgctgctgcacagtgccacat	6	6	14	15	3	0	0	0	0	0	0	0	0	0	0	3	5	4	3	3	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144873383G>T	ENST00000320476.3	-	36	4849	c.4843C>A	c.(4843-4845)Cgc>Agc	p.R1615S	RP11-429J17.8_ENST00000527139.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.R1640S|SCRIB_ENST00000546337.1_5'Flank|SCRIB_ENST00000377533.3_Missense_Mutation_p.R1534S|RP11-429J17.8_ENST00000532625.1_RNA|RP11-429J17.8_ENST00000534089.1_RNA	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1615					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGGGGCGGCGGCTGCTGCAC	0.711																																					Pancreas(51;966 1133 10533 14576 29674)												0													11	14	13					8																	144873383		2126	4195	6321	SO:0001583	missense	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.4843C>A	8.37:g.144873383G>T	ENSP00000322938:p.Arg1615Ser		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R1615S	ENST00000320476.3	37	c.4843	CCDS6411.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.49|10.49	1.365877|1.365877	0.24684|0.24684	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000526832|ENST00000356994;ENST00000320476;ENST00000377533	.|T;T;T	.|0.52526	.|0.66;1.07;0.91	4.48|4.48	3.58|3.58	0.41010|0.41010	.|.	.|.	.|.	.|.	.|.	T|T	0.61677|0.61677	0.2366|0.2366	M|M	0.63428|0.63428	1.95|1.95	0.27635|0.27635	N|N	0.947903|0.947903	.|P;P;D	.|0.63880	.|0.841;0.901;0.993	.|B;P;D	.|0.64595	.|0.373;0.577;0.927	T|T	0.53683|0.53683	-0.8404|-0.8404	5|9	.|0.72032	.|D	.|0.01	.|.	10.0885|10.0885	0.42432|0.42432	0.0:0.2044:0.7956:0.0|0.0:0.2044:0.7956:0.0	.|.	.|1615;1640;1534	.|Q14160;Q14160-3;Q14160-2	.|SCRIB_HUMAN;.;.	Q|S	634|1640;1615;1534	.|ENSP00000349486:R1640S;ENSP00000322938:R1615S;ENSP00000366756:R1534S	.|ENSP00000322938:R1615S	P|R	-|-	2|1	0|0	SCRIB|SCRIB	144945371|144945371	0.941000|0.941000	0.31946|0.31946	0.969000|0.969000	0.41365|0.41365	0.122000|0.122000	0.20287|0.20287	0.954000|0.954000	0.29175|0.29175	1.058000|1.058000	0.40530|0.40530	0.486000|0.486000	0.48141|0.48141	CCG|CGC	SCRIB	-	NULL	ENSG00000180900		0.711	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1		0	31	0	G	NM_015356		144873383	-1			no_errors	ENST00000320476	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.993	T	T	144873383	G	T	144873383	3	4	87	1	0	0	0	0	1	0	0	0	13982	1116	39	2	53	2	SCRIB	8	144873383	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	64330	144873383	1490639	923	24047											
EPPK1	83481	genome.wustl.edu	37	chr8	144944886	144944886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcagcagctgcctcctgcGgccctcgctgaagtactcag	7	7	11	16	3	1	1	1	1	0	0	3	1	2	1	3	1	5	5	3	1	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144944886G>A	ENST00000525985.1	-	2	2607	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C				P58107	EPIPL_HUMAN	epiplakin 1	846						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCCTCCTGCGGCCCTCGCTG	0.642																																																	0													16	19	18					8																	144944886		2142	4253	6395	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2536C>T	8.37:g.144944886G>A	ENSP00000436337:p.Arg846Cys		Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.R846C	ENST00000525985.1	37	c.2536		8	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453057	0.63290	.	.	ENSG00000227184	ENST00000525985	T	0.68181	-0.31	4.94	-1.14	0.09741	.	.	.	.	.	T	0.54951	0.1890	L	0.52905	1.665	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.48790	-0.9004	9	0.62326	D	0.03	.	3.8208	0.08835	0.3672:0.0:0.3724:0.2604	.	846	E9PPU0	.	C	846	ENSP00000436337:R846C	ENSP00000436337:R846C	R	-	1	0	EPPK1	145016874	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.617000	0.05584	-0.455000	0.07054	0.655000	0.94253	CGC	EPPK1	-	NULL	ENSG00000227184		0.642	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	23	0	G	NM_031308		144944886	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.000	A	A	144944886	G	A	144944886	3	1	87	1	0	0	0	0	1	0	0	0	5206	1116	39	1	4730	1	EPPK1	8	144944886	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	71503	144944886	1419136	924	24048											
PLEC	5339	genome.wustl.edu	37	chr8	144994758	144994758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcactgcctcgtccacGgtcagccgggcgctggtggc	4	6	15	16	5	1	0	1	0	0	0	3	0	2	0	3	4	2	3	3	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:144994758G>A	ENST00000322810.4	-	32	9811	c.9642C>T	c.(9640-9642)acC>acT	p.T3214T	PLEC_ENST00000527096.1_Silent_p.T3100T|PLEC_ENST00000436759.2_Silent_p.T3104T|PLEC_ENST00000357649.2_Silent_p.T3081T|PLEC_ENST00000354589.3_Silent_p.T3077T|PLEC_ENST00000354958.2_Silent_p.T3055T|PLEC_ENST00000356346.3_Silent_p.T3063T|PLEC_ENST00000398774.2_Silent_p.T3045T|PLEC_ENST00000345136.3_Silent_p.T3077T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3214	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCGTCCACGGTCAGCCGGG	0.652																																																	0													23	27	26					8																	144994758		2032	4183	6215	SO:0001819	synonymous_variant	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9642C>T	8.37:g.144994758G>A			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.T3214	ENST00000322810.4	37	c.9642	CCDS43772.1	8																																																																																			PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000178209		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0	59	0	G	NM_000445		144994758	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	silent	29.41	60	25	SNP	0.004	A	A	144994758	G	A	144994758	2	1	87	1	0	0	0	0	0	0	0	1	12091	1103	39	1		1	PLEC	8	144994758	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	49872	144994758	1369264	925	24049											
ADCK5	203054	genome.wustl.edu	37	chr8	145616338	145616338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgtccttccaggtggAtgagttgttccttgaggact	6	13	12	10	0	0	2	0	2	0	0	3	4	3	4	4	3	0	3	4	3	0	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145616338A>G	ENST00000308860.6	+	6	592	c.548A>G	c.(547-549)gAt>gGt	p.D183G	CPSF1_ENST00000531727.1_5'Flank|ADCK5_ENST00000526231.2_3'UTR	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	183	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TTCCAGGTGGATGAGTTGTTC	0.637																																																	0													52	52	52					8																	145616338		2203	4300	6503	SO:0001583	missense	0			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.548A>G	8.37:g.145616338A>G	ENSP00000310547:p.Asp183Gly		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.D183G	ENST00000308860.6	37	c.548	CCDS34965.1	8	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440147	0.43326	.	.	ENSG00000173137	ENST00000308860	T	0.75477	-0.94	5.04	5.04	0.67666	Protein kinase-like domain (1);	0.128820	0.49305	D	0.000143	T	0.67239	0.2872	L	0.58428	1.81	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.61212	-0.7108	10	0.14252	T	0.57	-15.7589	11.1574	0.48495	1.0:0.0:0.0:0.0	.	183	Q3MIX3	ADCK5_HUMAN	G	183	ENSP00000310547:D183G	ENSP00000310547:D183G	D	+	2	0	ADCK5	145587146	1.000000	0.71417	0.967000	0.41034	0.803000	0.45373	5.453000	0.66645	1.893000	0.54813	0.379000	0.24179	GAT	ADCK5	-	superfamily_Kinase-like_dom	ENSG00000173137		0.637	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK5	HGNC	protein_coding	OTTHUMT00000382556.2	-	0	44	0	A	NM_174922		145616338	1	tier1	-	no_errors	ENST00000308860	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.999	G	G	145616338	A	G	145616338	3	3	87	1	0	0	0	0	1	0	0	0	291	333	12	4	570	4	ADCK5	8	145616338	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	621580	145616338	747684	926	24050											
FOXH1	8928	genome.wustl.edu	37	chr8	145701036	145701036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatggccaagtaggtgtagGggggcttgtcatgtcgcagg	7	10	17	7	1	2	0	2	0	0	0	3	0	2	0	1	6	0	4	1	6	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145701036G>A	ENST00000377317.4	-	1	682	c.104C>T	c.(103-105)cCc>cTc	p.P35L	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	35					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTAGGTGTAGGGGGGCTTGTC	0.677																																																	0			GRCh37	CM082691	FOXH1	M							27	24	25					8																	145701036		2146	4207	6353	SO:0001583	missense	0			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.104C>T	8.37:g.145701036G>A	ENSP00000366534:p.Pro35Leu		D3DWM4	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P35L	ENST00000377317.4	37	c.104	CCDS6428.1	8	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546672	0.86022	.	.	ENSG00000160973	ENST00000377317;ENST00000292541	D	0.98381	-4.9	5.3	3.33	0.38152	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.83692	2.655	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.99184	1.0868	10	0.87932	D	0	-36.2283	11.891	0.52628	0.0:0.0:0.6855:0.3145	.	35	O75593	FOXH1_HUMAN	L	35;62	ENSP00000366534:P35L	ENSP00000292541:P62L	P	-	2	0	FOXH1	145671844	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.104000	0.64584	1.330000	0.45394	0.561000	0.74099	CCC	FOXH1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000160973		0.677	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXH1	HGNC	protein_coding	OTTHUMT00000382451.1	-	0	165	0	G			145701036	-1	tier1	-	no_errors	ENST00000377317	ensembl	human	known	74_37	missense	28.95	135	55	SNP	0.992	A	A	145701036	G	A	145701036	3	1	87	1	0	0	0	0	1	0	0	0	6032	1232	43	3	1005	3	FOXH1	8	145701036	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	84698	145701036	662986	927	24051											
MFSD3	113655	genome.wustl.edu	37	chr8	145736024	145736024	+	Frame_Shift_Del	DEL	G	G	-																															cggtgctgcgcttccgcctcGggggcctagcctgtcagact																								rs2306387	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145736024delG	ENST00000301327.4	+	3	1134	c.874delG	c.(874-876)gggfs	p.G293fs	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	293	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTTCCGCCTCGGGGGCCTAGC	0.617																																																	0													81	89	86					8																	145736024		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.874delG	8.37:g.145736024delG	ENSP00000301327:p.Gly293fs			Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G293fs	ENST00000301327.4	37	c.874	CCDS6431.1	8																																																																																			MFSD3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000167700		0.617	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD3	HGNC	protein_coding	OTTHUMT00000382478.2		0	61	0	G	NM_138431		145736024	1	tier1		no_errors	ENST00000301327	ensembl	human	known	74_37	frame_shift_del	11.76	60	8	DEL	0.955	-	-	145736024	G	-	145736024	7	5	87	1	0	1	0	1	0	0	0	0	9570	1116	39	0	884	0	MFSD3	8	145736024	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	34988	145736024	627998	928	24052											
LRRC14	9684	genome.wustl.edu	37	chr8	145745261	145745261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggtactgcgcgagttggTacacacgtggcccttcccgc	6	9	13	13	4	0	0	0	0	0	0	1	1	1	0	2	3	3	3	2	3	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145745261T>C	ENST00000292524.1	+	2	298	c.152T>C	c.(151-153)gTa>gCa	p.V51A	RECQL4_ENST00000428558.2_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.V51A|RECQL4_ENST00000532237.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	51										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCGAGTTGGTACACACGTGG	0.632																																																	0													102	99	100					8																	145745261		2203	4300	6503	SO:0001583	missense	0			BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.152T>C	8.37:g.145745261T>C	ENSP00000292524:p.Val51Ala		A8K0A8|D3DWM8	Missense_Mutation	SNP	NULL	p.V51A	ENST00000292524.1	37	c.152	CCDS6432.1	8	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075698	0.55646	.	.	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524;ENST00000530854;ENST00000525766	T;T;T;T;T	0.60672	1.27;4.04;4.04;0.21;0.17	4.42	4.42	0.53409	.	0.148976	0.44483	D	0.000458	T	0.75620	0.3874	M	0.83012	2.62	0.35839	D	0.825879	D	0.89917	1.0	D	0.76575	0.988	D	0.83801	0.0236	10	0.87932	D	0	.	11.6459	0.51261	0.0:0.0:0.0:1.0	.	51	Q15048	LRC14_HUMAN	A	51	ENSP00000436452:V51A;ENSP00000434768:V51A;ENSP00000292524:V51A;ENSP00000435985:V51A;ENSP00000434738:V51A	ENSP00000292524:V51A	V	+	2	0	LRRC14	145716069	0.999000	0.42202	0.983000	0.44433	0.730000	0.41778	3.164000	0.50770	1.862000	0.54008	0.379000	0.24179	GTA	LRRC14	-	NULL	ENSG00000160959		0.632	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC14	HGNC	protein_coding	OTTHUMT00000382494.1	-	0	84	0	T	NM_014665		145745261	1	tier1	-	no_errors	ENST00000292524	ensembl	human	known	74_37	missense	12.26	93	13	SNP	0.998	C	C	145745261	T	C	145745261	3	2	87	1	0	0	0	0	1	0	0	0	9003	1638	57	4	154	4	LRRC14	8	145745261	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	9237	145745261	618761	929	24053											
LRRC24	441381	genome.wustl.edu	37	chr8	145747975	145747975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcgaagagcggcttggAgcggttgatgacgaacatct	9	8	15	9	5	1	3	0	2	1	1	2	6	1	4	0	4	3	2	0	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145747975A>G	ENST00000529415.2	-	5	1543	c.1426T>C	c.(1426-1428)Tcc>Ccc	p.S476P	LRRC14_ENST00000528528.1_3'UTR|LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.S473P			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	476						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCGGCTTGGAGCGGTTGATG	0.706																																																	0																																										SO:0001583	missense	0			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"Immunoglobulin superfamily / I-set domain containing"	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.1426T>C	8.37:g.145747975A>G	ENSP00000434849:p.Ser476Pro			Missense_Mutation	SNP	pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S476P	ENST00000529415.2	37	c.1426	CCDS34969.1	8	.	.	.	.	.	.	.	.	.	.	A	16.97	3.267605	0.59540	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	T;T	0.56776	0.57;0.44	4.92	3.69	0.42338	.	0.554792	0.18897	N	0.128159	T	0.46658	0.1404	N	0.19112	0.55	0.32213	N	0.576217	D;D	0.65815	0.995;0.991	P;P	0.55161	0.77;0.593	T	0.55909	-0.8066	10	0.66056	D	0.02	.	7.2387	0.26084	0.7055:0.0:0.0:0.2945	.	473;476	G3V1D8;Q50LG9	.;LRC24_HUMAN	P	476;473	ENSP00000434849:S476P;ENSP00000435653:S473P	ENSP00000434849:S476P	S	-	1	0	LRRC24	145718783	0.982000	0.34865	0.998000	0.56505	0.431000	0.31685	2.012000	0.40932	2.073000	0.62155	0.459000	0.35465	TCC	LRRC24	-	NULL	ENSG00000254402		0.706	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2	-	0	36	0	A	NM_001024678		145747975	-1	tier1	-	no_errors	ENST00000529415	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.964	G	G	145747975	A	G	145747975	3	3	87	1	0	0	0	0	1	0	0	0	9014	304	11	4	119	4	LRRC24	8	145747975	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2714	145747975	616047	930	24054											
ZNF251	90987	genome.wustl.edu	37	chr8	145947906	145947906	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggccttcccacactgaTtgcatttatggggcttctct	7	14	9	11	0	1	2	0	2	1	0	3	2	2	2	2	3	1	2	2	3	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145947906T>A	ENST00000292562.7	-	5	1414	c.1139A>T	c.(1138-1140)aAt>aTt	p.N380I	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CCCACACTGATTGCATTTATG	0.498																																																	0													102	114	110					8																	145947906		2188	4297	6485	SO:0001583	missense	0			AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"Zinc fingers, C2H2-type", "-"	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1139A>T	8.37:g.145947906T>A	ENSP00000292562:p.Asn380Ile		Q2M219	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N380I	ENST00000292562.7	37	c.1139	CCDS47944.1	8	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759322	0.49468	.	.	ENSG00000198169	ENST00000292562	T	0.17691	2.26	2.71	-3.44	0.04796	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10337	0.0253	L	0.38953	1.18	0.09310	N	1	B	0.33413	0.411	B	0.30495	0.116	T	0.20405	-1.0276	9	0.41790	T	0.15	-1.6742	4.7085	0.12861	0.0:0.3005:0.3249:0.3746	.	380	Q9BRH9	ZN251_HUMAN	I	380	ENSP00000292562:N380I	ENSP00000292562:N380I	N	-	2	0	ZNF251	145918715	0.000000	0.05858	0.311000	0.25182	0.987000	0.75469	-4.800000	0.00184	-0.920000	0.03799	-0.360000	0.07572	AAT	ZNF251	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198169		0.498	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF251	HGNC	protein_coding	OTTHUMT00000382541.1	-	0	33	0	T	NM_138367		145947906	-1	tier1	-	no_errors	ENST00000292562	ensembl	human	known	74_37	missense	43.86	32	25	SNP	0.004	A	A	145947906	T	A	145947906	3	1	87	1	0	0	0	0	1	0	0	0	17844	1493	52	5	880	5	ZNF251	8	145947906	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	199931	145947906	416116	931	24055											
ZNF34	80778	genome.wustl.edu	37	chr8	145999587	145999587	+	Frame_Shift_Del	DEL	T	T	-																															cagtaactgcaataatgcaaTtttttcccagtaggaatttt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr8:145999587delT	ENST00000343459.4	-	6	812	c.747delA	c.(745-747)aaafs	p.K249fs	ZNF34_ENST00000429371.2_Frame_Shift_Del_p.K228fs			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K249fs*75(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		AATAATGCAATTTTTTCCCAG	0.393																																																	1	Deletion - Frameshift(1)	large_intestine(1)											56	57	57					8																	145999587		2038	4230	6268	SO:0001589	frameshift_variant	0			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.747delA	8.37:g.145999587delT	ENSP00000341528:p.Lys249fs		D3DWN1|Q9BSZ0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K249fs	ENST00000343459.4	37	c.747	CCDS47945.1	8																																																																																			ZNF34	-	NULL	ENSG00000196378		0.393	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1		0	70	0	T	NM_030580		145999587	-1	tier1		no_errors	ENST00000343459	ensembl	human	known	74_37	frame_shift_del	19.23	63	15	DEL	0.001	-	-	145999587	T	-	145999587	7	5	87	1	0	1	0	1	0	0	0	0	17904	1490	52	0	939	0	ZNF34	8	145999587	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	51681	145999587	364435	932	24056											
DOCK8	81704	genome.wustl.edu	37	chr9	289570	289570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatccgtgagtggctaatCgtgaaccggaagtaagttac	12	10	11	8	3	0	2	0	2	0	0	2	3	1	3	2	2	3	3	2	2	6	4	rs139097471		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:289570C>T	ENST00000453981.1	+	4	505	c.393C>T	c.(391-393)atC>atT	p.I131I	DOCK8_ENST00000469391.1_Silent_p.I63I|DOCK8_ENST00000432829.2_Silent_p.I63I			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	131					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTGGCTAATCGTGAACCGGA	0.333													C|||	1	0.000199681	8e-04	0	5008	,	,		18523	0		0	False		,,,				2504	0																0								C	,,	1,4405	2.1+/-5.4	0,1,2202	191	182	185		189,189,393	-2.3	0.9	9	dbSNP_134	185	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DOCK8	NM_001190458.1,NM_001193536.1,NM_203447.3	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	63/2000,63/2032,131/2100	289570	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.393C>T	9.37:g.289570C>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.I131	ENST00000453981.1	37	c.393	CCDS6440.2	9																																																																																			DOCK8	-	pfam_DOCK_C/D_N	ENSG00000107099		0.333	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0	85	0	C	XM_036307		289570	1	tier1	rs139097471	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	12.94	74	11	SNP	0.922	T	T	289570	C	T	289570	2	4	87	1	0	0	0	0	0	0	0	1	4707	874	31	1		1	DOCK8	9	289570	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09		289570	140923861	933	24057											
DOCK8	81704	genome.wustl.edu	37	chr9	328099	328099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacacgccttcagtggcCgcatcaagtcaggcgagatc	9	7	11	14	3	4	1	4	0	0	1	5	2	4	1	2	2	0	2	2	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:328099C>T	ENST00000453981.1	+	9	1084	c.972C>T	c.(970-972)gcC>gcT	p.A324A	DOCK8_ENST00000469391.1_Silent_p.A256A|DOCK8_ENST00000432829.2_Silent_p.A256A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	324					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTCAGTGGCCGCATCAAGTC	0.473																																																	0													115	100	105					9																	328099		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.972C>T	9.37:g.328099C>T			A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.A324	ENST00000453981.1	37	c.972	CCDS6440.2	9																																																																																			DOCK8	-	NULL	ENSG00000107099		0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	-	0	49	0	C	XM_036307		328099	1	tier1	-	no_errors	ENST00000453981	ensembl	human	known	74_37	silent	15.52	49	9	SNP	0.014	T	T	328099	C	T	328099	2	4	87	1	0	0	0	0	0	0	0	1	4707	639	23	1		1	DOCK8	9	328099	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	38529	328099	140885332	934	24058											
KANK1	23189	genome.wustl.edu	37	chr9	738311	738311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgaacaccctccagcaCgagtggttccgcgtgtccag	7	9	11	14	3	1	1	0	1	1	0	4	2	4	1	4	1	2	2	4	1	1	1	rs200250223		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:738311C>T	ENST00000382303.1	+	12	4012	c.3360C>T	c.(3358-3360)caC>caT	p.H1120H	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.H962H|KANK1_ENST00000382297.2_Silent_p.H1120H	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1120					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.H1120H(1)|p.H962H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCCTCCAGCACGAGTGGTTCC	0.498													C|||	1	0.000199681	0	0	5008	,	,		18823	0		0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	endometrium(2)											81	60	67					9																	738311		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3360C>T	9.37:g.738311C>T			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H1120	ENST00000382303.1	37	c.3360	CCDS34976.1	9																																																																																			KANK1	-	NULL	ENSG00000107104		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2		0	74	0	C	NM_015158		738311	1			no_errors	ENST00000382297	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.983	T	T	738311	C	T	738311	2	4	87	1	0	0	0	0	0	0	0	1	8003	535	19	1		1	KANK1	9	738311	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	410212	738311	140475120	935	24059											
KIAA0020	9933	genome.wustl.edu	37	chr9	2834090	2834090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatagttggttttatcActgagttgtctgctttgctt	6	20	9	6	0	3	1	2	1	1	0	3	1	3	1	0	1	2	5	0	1	2	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:2834090A>G	ENST00000397885.2	-	4	587	c.381T>C	c.(379-381)agT>agC	p.S127S		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	127						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGGTTTTATCACTGAGTTGTC	0.373																																																	0													148	143	144					9																	2834090		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"penguin homolog (Drosophila)", "minor histocompatibility antigen HA-8"	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.381T>C	9.37:g.2834090A>G			A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.S127	ENST00000397885.2	37	c.381	CCDS6448.2	9																																																																																			KIAA0020	-	NULL	ENSG00000080608		0.373	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	-	0	91	0	A	NM_014878		2834090	-1	tier1	-	no_errors	ENST00000397885	ensembl	human	known	74_37	silent	17.65	56	12	SNP	0.983	G	G	2834090	A	G	2834090	2	3	87	1	0	0	0	0	0	0	0	1	8179	156	6	4		4	KIAA0020	9	2834090	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2095779	2834090	138379341	936	24060											
BNC2	54796	genome.wustl.edu	37	chr9	16436056	16436056	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggttcttggtcttcagaAgtcatgctgtcggccctcct	5	14	10	12	1	5	1	3	0	2	1	7	1	6	1	2	3	1	2	2	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:16436056A>T	ENST00000380672.4	-	6	2193	c.2136T>A	c.(2134-2136)acT>acA	p.T712T	BNC2_ENST00000545497.1_Silent_p.T617T|BNC2_ENST00000380666.2_Silent_p.T712T|BNC2_ENST00000380667.2_Silent_p.T645T	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGTCTTCAGAAGTCATGCTGT	0.512																																																	0													117	112	114					9																	16436056		2203	4300	6503	SO:0001819	synonymous_variant	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2136T>A	9.37:g.16436056A>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T712	ENST00000380672.4	37	c.2136	CCDS6482.2	9																																																																																			BNC2	-	NULL	ENSG00000173068		0.512	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0	89	0	A	NM_017637		16436056	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	silent	26.87	49	18	SNP	0.358	T	T	16436056	A	T	16436056	2	4	87	1	0	0	0	0	0	0	0	1	1477	59	3	5		5	BNC2	9	16436056	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	13601966	16436056	124777375	937	24061											
CNTLN	54875	genome.wustl.edu	37	chr9	17457611	17457611	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaatcacaagtttggcAgaagaaaattcccaggtaac	16	9	8	8	0	2	3	1	1	1	2	3	3	3	3	1	2	1	3	1	2	6	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:17457611A>G	ENST00000380647.3	+	19	3288	c.3204A>G	c.(3202-3204)gcA>gcG	p.A1068A	CNTLN_ENST00000262360.5_Silent_p.A1068A|CNTLN_ENST00000425824.1_Silent_p.A1068A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1068					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAAGTTTGGCAGAAGAAAATT	0.353																																																	0													80	78	79					9																	17457611		1810	4078	5888	SO:0001819	synonymous_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3204A>G	9.37:g.17457611A>G			A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Silent	SNP	superfamily_Prefoldin	p.A1068	ENST00000380647.3	37	c.3204	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.353	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0	134	0	A	NM_017738		17457611	1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	silent	24.26	103	33	SNP	0.998	G	G	17457611	A	G	17457611	2	3	87	1	0	0	0	0	0	0	0	1	3646	175	7	4		4	CNTLN	9	17457611	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1021555	17457611	123755820	938	24062											
CNTLN	54875	genome.wustl.edu	37	chr9	17484318	17484318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagagttgcaaaatgAtgtccatgtggtaaggcgac	13	8	13	7	1	0	2	0	1	0	1	1	3	1	2	2	3	1	3	2	3	4	2	rs377637450		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:17484318A>G	ENST00000380647.3	+	24	3965	c.3881A>G	c.(3880-3882)gAt>gGt	p.D1294G	CNTLN_ENST00000262360.5_Missense_Mutation_p.D1294G|CNTLN_ENST00000425824.1_Missense_Mutation_p.D1294G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1294					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTGCAAAATGATGTCCATGTG	0.363																																																	0													118	116	117					9																	17484318		1853	4101	5954	SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3881A>G	9.37:g.17484318A>G	ENSP00000370021:p.Asp1294Gly		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.D1294G	ENST00000380647.3	37	c.3881	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230785	0.58777	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.19669	2.13;2.13;2.39	5.7	5.7	0.88788	Signal transduction histidine kinase, subgroup 1, dimerisation/phosphoacceptor domain (1);	.	.	.	.	T	0.27832	0.0685	M	0.65975	2.015	0.35774	D	0.821145	P;P;P	0.46859	0.885;0.675;0.675	P;B;B	0.45753	0.492;0.218;0.164	T	0.37056	-0.9722	9	0.36615	T	0.2	.	10.627	0.45512	0.9195:0.0:0.0805:0.0	.	1294;1294;1294	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	G	1294	ENSP00000370021:D1294G;ENSP00000392798:D1294G;ENSP00000262360:D1294G	ENSP00000262360:D1294G	D	+	2	0	CNTLN	17474318	1.000000	0.71417	0.975000	0.42487	0.527000	0.34593	4.014000	0.57145	2.167000	0.68274	0.528000	0.53228	GAT	CNTLN	-	NULL	ENSG00000044459		0.363	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3	-	0	48	0	A	NM_017738		17484318	1	tier1	-	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.997	G	G	17484318	A	G	17484318	3	3	87	1	0	0	0	0	1	0	0	0	3646	333	12	4	4005	4	CNTLN	9	17484318	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	26707	17484318	123729113	939	24063											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971023	21971023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggtccacgggcagaCggccccaggcatcgcgcacg	8	2	14	17	5	0	1	0	0	0	1	2	1	1	1	4	4	1	3	4	4	0	0	rs587782797		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:21971023C>T	ENST00000304494.5	-	2	605	c.335G>A	c.(334-336)cGt>cAt	p.R112H	CDKN2A_ENST00000479692.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000530628.2_Silent_p.P126P|CDKN2A_ENST00000361570.3_Silent_p.P167P|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R112H|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R61H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000497750.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R61H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R112H|CDKN2A_ENST00000579755.1_Silent_p.P126P|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R61H	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	112			R -> RR (in CMM2). {ECO:0000269|PubMed:8653684}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.0(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACGGGCAGACGGCCCCAGGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1366	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(283)|skin(175)|central_nervous_system(167)|lung(145)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											19	22	21					9																	21971023		2199	4296	6495	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.335G>A	9.37:g.21971023C>T	ENSP00000307101:p.Arg112His		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.R112H	ENST00000304494.5	37	c.335	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182017	0.78677	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.66460	-0.21;-0.21	5.93	5.93	0.95920	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.74921	0.3780	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.68522	-0.5386	8	0.15952	T	0.53	-12.271	12.4538	0.55691	0.0:0.9227:0.0:0.0773	.	112	P42771	CD2A1_HUMAN	H	112	ENSP00000307101:R112H;ENSP00000394932:R112H	ENSP00000307101:R112H	R	-	2	0	CDKN2A	21961023	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.925000	0.40074	2.808000	0.96608	0.655000	0.94253	CGT	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	54	0	C	NM_000077		21971023	-1	tier1	-	no_errors	ENST00000446177	ensembl	human	known	74_37	missense	14.29	42	7	SNP	1.000	T	T	21971023	C	T	21971023	3	4	87	1	0	0	0	0	1	0	0	0	3168	536	19	1	143	1	CDKN2A	9	21971023	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4486705	21971023	119242408	940	24064											
NOL6	65083	genome.wustl.edu	37	chr9	33465269	33465269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagatccaggctctcatCagcgaaaccctcaccaagaa	14	5	6	16	1	3	2	3	0	1	2	5	3	4	2	4	1	2	1	4	1	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:33465269C>A	ENST00000379471.2	-	20	2704	c.2617G>T	c.(2617-2619)Gat>Tat	p.D873Y	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.D821Y			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	873					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGGCTCTCATCAGCGAAACCC	0.607																																																	0													37	28	32					9																	33465269		2202	4299	6501	SO:0001583	missense	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"nucleolar protein family 6 (RNA-associated)"			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2617G>T	9.37:g.33465269C>A	ENSP00000368784:p.Asp873Tyr		Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.D873Y	ENST00000379471.2	37	c.2617		9	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544724	0.65198	.	.	ENSG00000165271	ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T	0.51325	0.71;0.71;0.71	5.55	4.65	0.58169	.	0.096735	0.64402	D	0.000001	T	0.64405	0.2595	M	0.67397	2.05	0.58432	D	0.999999	P;P;D;P	0.54047	0.93;0.913;0.964;0.93	P;P;P;P	0.62089	0.898;0.837;0.823;0.898	T	0.68416	-0.5414	10	0.72032	D	0.01	.	14.6338	0.68676	0.0:0.9292:0.0:0.0708	.	821;870;873;873	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	Y	873;873;429;873;821	ENSP00000297990:D873Y;ENSP00000368784:D873Y;ENSP00000395915:D821Y	ENSP00000297990:D873Y	D	-	1	0	NOL6	33455269	1.000000	0.71417	0.159000	0.22649	0.643000	0.38383	5.727000	0.68523	1.345000	0.45676	0.462000	0.41574	GAT	NOL6	-	pfam_Nrap	ENSG00000165271		0.607	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	-	0	62	0	C	NM_022917		33465269	-1	tier1	-	no_errors	ENST00000297990	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.994	A	A	33465269	C	A	33465269	3	1	87	1	0	0	0	0	1	0	0	0	10564	826	29	3	851	3	NOL6	9	33465269	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	11494246	33465269	107748162	941	24065											
ENHO	375704	genome.wustl.edu	37	chr9	34521524	34521524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtggtggggccttctcaGgacaggggccagggctggag	5	6	22	8	0	1	0	1	0	1	0	2	2	1	2	2	10	0	1	2	10	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:34521524G>T	ENST00000399775.2	-	2	595	c.170C>A	c.(169-171)cCt>cAt	p.P57H	RP11-296L22.8_ENST00000439960.1_RNA	NM_198573.2	NP_940975.2	Q6UWT2	ENHO_HUMAN	energy homeostasis associated	57						extracellular region (GO:0005576)				endometrium(1)|lung(1)	2						GGCCTTCTCAGGACAGGGGCC	0.637																																																	0													58	70	66					9																	34521524		2078	4212	6290	SO:0001583	missense	0			BC022101	CCDS43795.1	9p13.3	2008-12-10	2008-12-10	2008-12-10	ENSG00000168913	ENSG00000168913			24838	protein-coding gene	gene with protein product	"adropin"		"chromosome 9 open reading frame 165"	C9orf165		12975309, 19041763	Standard	NM_198573		Approved	UNQ470	uc003zun.1	Q6UWT2	OTTHUMG00000159589	ENST00000399775.2:c.170C>A	9.37:g.34521524G>T	ENSP00000382675:p.Pro57His		Q8N666	Missense_Mutation	SNP	NULL	p.P57H	ENST00000399775.2	37	c.170	CCDS43795.1	9	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735992	0.49045	.	.	ENSG00000168913	ENST00000399775	.	.	.	5.12	5.12	0.69794	.	2.534210	0.02144	N	0.057386	T	0.69913	0.3164	.	.	.	0.28733	N	0.9024	D	0.76494	0.999	D	0.65443	0.935	T	0.55598	-0.8116	8	0.59425	D	0.04	.	14.0535	0.64751	0.0:0.0:1.0:0.0	.	57	Q6UWT2	ENHO_HUMAN	H	57	.	ENSP00000382675:P57H	P	-	2	0	ENHO	34511524	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.004000	0.63966	2.381000	0.81170	0.555000	0.69702	CCT	ENHO	-	NULL	ENSG00000168913		0.637	ENHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENHO	HGNC	protein_coding	OTTHUMT00000356348.1	-	0	59	0	G	NM_198573		34521524	-1	tier1	-	no_errors	ENST00000399775	ensembl	human	known	74_37	missense	22.92	36	11	SNP	1.000	T	T	34521524	G	T	34521524	3	4	87	1	0	0	0	0	1	0	0	0	5135	1000	35	3	64	3	ENHO	9	34521524	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1056255	34521524	106691907	942	24066											
CNTFR	1271	genome.wustl.edu	37	chr9	34557906	34557906	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaatgtaggtgggggtGggcagatgccagctgcagta	8	9	19	5	0	0	1	0	0	0	1	0	2	0	2	1	5	3	5	1	5	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:34557906G>T	ENST00000378980.3	-	5	689	c.396C>A	c.(394-396)ccC>ccA	p.P132P	CNTFR_ENST00000351266.4_Silent_p.P132P	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	132	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGGTGGGGGTGGGCAGATGCC	0.627																																																	0													91	94	93					9																	34557906		2203	4300	6503	SO:0001819	synonymous_variant	0			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.396C>A	9.37:g.34557906G>T			Q5U050	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P132	ENST00000378980.3	37	c.396	CCDS6558.1	9																																																																																			CNTFR	-	superfamily_Fibronectin_type3	ENSG00000122756		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	HGNC	protein_coding	OTTHUMT00000052176.1	-	0	102	0	G			34557906	-1	tier1	-	no_errors	ENST00000351266	ensembl	human	known	74_37	silent	14.93	57	10	SNP	0.984	T	T	34557906	G	T	34557906	2	4	87	1	0	0	0	0	0	0	0	1	3645	1335	47	3		3	CNTFR	9	34557906	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	36382	34557906	106655525	943	24067											
VCP	7415	genome.wustl.edu	37	chr9	35062276	35062276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggcaggagcattctTctcagcctcctcaaaggctt	9	11	10	11	0	3	1	2	1	2	0	5	3	4	2	2	3	2	3	2	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35062276T>C	ENST00000358901.6	-	8	1778	c.883A>G	c.(883-885)Aag>Gag	p.K295E		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	295					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGAGCATTCTTCTCAGCCTCC	0.478																																																	0													130	121	124					9																	35062276		2203	4300	6503	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.883A>G	9.37:g.35062276T>C	ENSP00000351777:p.Lys295Glu		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.K295E	ENST00000358901.6	37	c.883	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997156	0.54147	.	.	ENSG00000165280	ENST00000358901	D	0.92446	-3.04	6.17	5.04	0.67666	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89326	0.6683	N	0.19112	0.55	0.80722	D	1	P	0.40376	0.715	P	0.49999	0.628	D	0.87094	0.2174	10	0.31617	T	0.26	-35.9207	12.1016	0.53788	0.0:0.0662:0.0:0.9338	.	295	P55072	TERA_HUMAN	E	295	ENSP00000351777:K295E	ENSP00000351777:K295E	K	-	1	0	VCP	35052276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	1.165000	0.42670	0.533000	0.62120	AAG	VCP	-	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0	33	0	T	NM_007126		35062276	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	36.67	19	11	SNP	1.000	C	C	35062276	T	C	35062276	3	2	87	1	0	0	0	0	1	0	0	0	17189	1792	62	4	1577	4	VCP	9	35062276	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	504370	35062276	106151155	944	24068											
VCP	7415	genome.wustl.edu	37	chr9	35067909	35067909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgacatcccctaggcgtAcacgaaggttattccgaaca	12	9	9	11	3	0	2	0	2	0	0	2	4	2	2	3	2	2	2	3	2	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35067909A>G	ENST00000358901.6	-	3	1176	c.281T>C	c.(280-282)gTa>gCa	p.V94A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	94					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCCTAGGCGTACACGAAGGTT	0.478																																																	0													139	111	121					9																	35067909		2203	4300	6503	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.281T>C	9.37:g.35067909A>G	ENSP00000351777:p.Val94Ala		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.V94A	ENST00000358901.6	37	c.281	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792178	0.90453	.	.	ENSG00000165280	ENST00000358901;ENST00000448530;ENST00000417448	D;D;D	0.86432	-2.12;-2.12;-2.12	5.73	5.73	0.89815	ATPase, AAA-type, VAT, N-terminal (1);Aspartate decarboxylase-like fold (2);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.93808	3.46	0.80722	D	1	B	0.22541	0.071	B	0.37422	0.249	D	0.91493	0.5213	10	0.56958	D	0.05	-21.4685	16.0173	0.80450	1.0:0.0:0.0:0.0	.	94	P55072	TERA_HUMAN	A	94;49;49	ENSP00000351777:V94A;ENSP00000392088:V49A;ENSP00000399456:V49A	ENSP00000351777:V94A	V	-	2	0	VCP	35057909	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.194000	0.94962	2.181000	0.69327	0.533000	0.62120	GTA	VCP	-	pfam_CDC4_N-term_subdom,superfamily_Asp_de-COase-like_dom,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.478	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	-	0	58	0	A	NM_007126		35067909	-1	tier1	-	no_errors	ENST00000358901	ensembl	human	known	74_37	missense	10.14	62	7	SNP	1.000	G	G	35067909	A	G	35067909	3	3	87	1	0	0	0	0	1	0	0	0	17189	391	14	4	2199	4	VCP	9	35067909	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	5633	35067909	106145522	945	24069											
KIAA1539	80256	genome.wustl.edu	37	chr9	35106613	35106613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggggctcagcaggcctggCcccttccggaggcttcgaag	5	6	17	13	2	1	0	1	0	0	0	3	2	2	1	4	7	1	3	4	7	1	2	rs370170024		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35106613C>T	ENST00000378561.1	-	4	4036	c.981G>A	c.(979-981)ggG>ggA	p.G327G	FAM214B_ENST00000488109.2_Silent_p.G327G|FAM214B_ENST00000605244.1_Silent_p.G327G|FAM214B_ENST00000322813.5_Silent_p.G327G|FAM214B_ENST00000378566.1_Silent_p.G22G|FAM214B_ENST00000603301.1_Silent_p.G327G|FAM214B_ENST00000378554.2_Silent_p.G327G|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378557.1_Silent_p.G327G			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	327						nucleus (GO:0005634)											GCAGGCCTGGCCCCTTCCGGA	0.617																																																	0													10	12	11					9																	35106613		2170	4261	6431	SO:0001819	synonymous_variant	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.981G>A	9.37:g.35106613C>T			B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	NULL	p.G327	ENST00000378561.1	37	c.981	CCDS6578.1	9																																																																																			FAM214B	-	NULL	ENSG00000005238		0.617	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0	89	0	C	NM_025182		35106613	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	silent	14.29	66	11	SNP	0.463	T	T	35106613	C	T	35106613	2	4	87	1	0	0	0	0	0	0	0	1	8269	726	26	3		3	KIAA1539	9	35106613	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	38704	35106613	106106818	946	24070											
KIAA1539	80256	genome.wustl.edu	37	chr9	35107838	35107838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcatttgatggggggCaggggggactccaggccccc	8	5	18	10	0	0	1	0	1	0	0	1	3	1	3	3	8	1	2	3	8	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35107838C>T	ENST00000378561.1	-	2	3489	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	FAM214B_ENST00000488109.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000605244.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000322813.5_Missense_Mutation_p.C145Y|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000603301.1_Missense_Mutation_p.C145Y|FAM214B_ENST00000378554.2_Missense_Mutation_p.C145Y|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378557.1_Missense_Mutation_p.C145Y			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	145						nucleus (GO:0005634)											TGATGGGGGGCAGGGGGGACT	0.627																																																	0													35	43	40					9																	35107838		2202	4296	6498	SO:0001583	missense	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"KIAA1539"	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.434G>A	9.37:g.35107838C>T	ENSP00000367823:p.Cys145Tyr		B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Missense_Mutation	SNP	NULL	p.C145Y	ENST00000378561.1	37	c.434	CCDS6578.1	9	.	.	.	.	.	.	.	.	.	.	C	1.548	-0.540011	0.04053	.	.	ENSG00000005238	ENST00000322813;ENST00000378561;ENST00000378557;ENST00000378554	.	.	.	4.63	3.72	0.42706	.	0.619147	0.15461	N	0.261104	T	0.23451	0.0567	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.17018	-1.0383	9	0.54805	T	0.06	-2.9006	9.1786	0.37127	0.3006:0.5684:0.1311:0.0	.	145	Q7L5A3	K1539_HUMAN	Y	145	.	ENSP00000319897:C145Y	C	-	2	0	KIAA1539	35097838	0.161000	0.22892	0.228000	0.23943	0.434000	0.31775	1.096000	0.30976	1.164000	0.42652	0.555000	0.69702	TGC	FAM214B	-	NULL	ENSG00000005238		0.627	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0	82	0	C	NM_025182		35107838	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.019	T	T	35107838	C	T	35107838	3	4	87	1	0	0	0	0	1	0	0	0	8269	710	25	3	1210	3	KIAA1539	9	35107838	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1225	35107838	106105593	947	24071											
FAM166B	730112	genome.wustl.edu	37	chr9	35563286	35563286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaagtgtgcggtggacagGgggccaggctaggccaggag	9	4	20	8	1	0	1	0	0	0	1	0	3	0	3	2	7	1	1	2	7	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:35563286G>T	ENST00000399742.2	-	2	233	c.163C>A	c.(163-165)Cct>Act	p.P55T	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	55										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CGGTGGACAGGGGGCCAGGCT	0.617																																																	0													85	95	92					9																	35563286		2096	4218	6314	SO:0001583	missense	0			BC129999	CCDS47963.1, CCDS56572.1	9p13.3	2008-06-10			ENSG00000215187	ENSG00000215187			34242	protein-coding gene	gene with protein product							Standard	NM_001099951		Approved		uc010mkr.3	A8MTA8	OTTHUMG00000019858	ENST00000399742.2:c.163C>A	9.37:g.35563286G>T	ENSP00000382646:p.Pro55Thr		A1L3B2|B7ZBJ0	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.P55T	ENST00000399742.2	37	c.163	CCDS56572.1	9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183392	0.78677	.	.	ENSG00000215187	ENST00000399742;ENST00000537504	T	0.40756	1.02	5.9	5.9	0.94986	.	.	.	.	.	T	0.65165	0.2665	M	0.75264	2.295	0.38764	D	0.954395	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.986;0.999	T	0.67692	-0.5605	9	0.52906	T	0.07	-11.4558	15.7632	0.78103	0.0:0.0:1.0:0.0	.	55;55;55;55	B7ZW33;B7ZW26;A8MTA8;A8MTA8-2	.;.;F166B_HUMAN;.	T	55	ENSP00000382646:P55T	ENSP00000382646:P55T	P	-	1	0	FAM166B	35553286	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.725000	0.54970	2.788000	0.95919	0.655000	0.94253	CCT	FAM166B	-	pfam_UPF0573/UPF0605	ENSG00000215187		0.617	FAM166B-005	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM166B	HGNC	protein_coding	OTTHUMT00000336563.1		0	42	0	G	NM_001099951		35563286	-1			no_errors	ENST00000447837	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	35563286	G	T	35563286	3	4	87	1	0	0	0	0	1	0	0	0	5501	1232	43	3	503	3	FAM166B	9	35563286	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	455448	35563286	105650145	948	24072											
RECK	8434	genome.wustl.edu	37	chr9	36102113	36102113	+	Frame_Shift_Del	DEL	A	A	-																															cagattgtgtggagattcttAaaaaatgtggagaccagaac																								rs71508012		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:36102113delA	ENST00000377966.3	+	12	1887	c.1321delA	c.(1321-1323)aaafs	p.K442fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	442					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GGAGATTCTTAAAAAATGTGG	0.383																																																	0													103	104	103					9																	36102113		2203	4300	6503	SO:0001589	frameshift_variant	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1321delA	9.37:g.36102113delA	ENSP00000367202:p.Lys442fs		B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Del	DEL	pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.K442fs	ENST00000377966.3	37	c.1321	CCDS6597.1	9																																																																																			RECK	-	NULL	ENSG00000122707		0.383	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1		0	85	0	A			36102113	1	tier1		no_errors	ENST00000377966	ensembl	human	known	74_37	frame_shift_del	19.70	53	13	DEL	1.000	-	-	36102113	A	-	36102113	7	5	87	1	0	1	0	1	0	0	0	0	13245	363	13	0	1367	0	RECK	9	36102113	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	538827	36102113	105111318	949	24073											
ZBTB5	9925	genome.wustl.edu	37	chr9	37441755	37441755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgggcatcttcttgagtgCcaaaagactgatcaaacatg	12	10	9	10	0	3	3	1	2	2	1	3	3	3	3	2	1	2	1	2	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:37441755C>A	ENST00000307750.4	-	2	982	c.794G>T	c.(793-795)gGc>gTc	p.G265V		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TTCTTGAGTGCCAAAAGACTG	0.458																																																	0													75	80	79					9																	37441755		2203	4300	6503	SO:0001583	missense	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.794G>T	9.37:g.37441755C>A	ENSP00000307604:p.Gly265Val			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G265V	ENST00000307750.4	37	c.794	CCDS6610.1	9	.	.	.	.	.	.	.	.	.	.	C	9.108	1.005779	0.19199	.	.	ENSG00000168795	ENST00000307750	T	0.08634	3.07	5.65	4.73	0.59995	.	0.638375	0.16473	N	0.212866	T	0.04815	0.0130	N	0.08118	0	0.21445	N	0.999687	B	0.26512	0.151	B	0.23574	0.047	T	0.39035	-0.9633	10	0.26408	T	0.33	.	12.3395	0.55085	0.0:0.8691:0.0:0.1309	.	265	O15062	ZBTB5_HUMAN	V	265	ENSP00000307604:G265V	ENSP00000307604:G265V	G	-	2	0	ZBTB5	37431755	0.700000	0.27796	0.467000	0.27180	0.967000	0.64934	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	GGC	ZBTB5	-	NULL	ENSG00000168795		0.458	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1		0	35	0	C	NM_014872		37441755	-1			no_errors	ENST00000307750	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.020	A	A	37441755	C	A	37441755	3	1	87	1	0	0	0	0	1	0	0	0	17599	739	26	3	1243	3	ZBTB5	9	37441755	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1339642	37441755	103771676	950	24074											
FBXO10	26267	genome.wustl.edu	37	chr9	37541711	37541711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcccaggtcgggaaggtGcaagtaggctaagatcatgc	10	6	16	9	2	1	1	1	0	0	1	2	2	1	2	1	5	2	3	1	5	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:37541711G>A	ENST00000432825.2	-	2	103	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	19	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TCGGGAAGGTGCAAGTAGGCT	0.577																																																	0													31	32	32					9																	37541711		2015	4187	6202	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.55C>T	9.37:g.37541711G>A	ENSP00000403802:p.His19Tyr		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.H19Y	ENST00000432825.2	37	c.55	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245943	0.59103	.	.	ENSG00000147912	ENST00000432825;ENST00000541607	T;T	0.54479	0.57;1.98	5.84	4.94	0.65067	F-box domain, cyclin-like (3);F-box domain, Skp2-like (1);	0.222453	0.45867	D	0.000325	T	0.33265	0.0857	N	0.16368	0.405	0.80722	D	1	B	0.28998	0.23	B	0.32090	0.14	T	0.13872	-1.0493	10	0.02654	T	1	-14.6835	13.2976	0.60307	0.077:0.0:0.923:0.0	.	19	Q9UK96	FBX10_HUMAN	Y	19	ENSP00000403802:H19Y;ENSP00000440061:H19Y	ENSP00000276960:H19Y	H	-	1	0	FBXO10	37531711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.656000	0.67988	2.763000	0.94921	0.650000	0.86243	CAC	FBXO10	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000147912		0.577	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0	59	0	G			37541711	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	A	A	37541711	G	A	37541711	3	1	87	1	0	0	0	0	1	0	0	0	5748	1319	46	3	2855	3	FBXO10	9	37541711	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	99956	37541711	103671720	951	24075											
FRMPD1	22844	genome.wustl.edu	37	chr9	37737192	37737192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagttacctccattttcCtctggcctggaaacaaacaa	12	10	5	14	0	1	0	0	0	1	0	3	1	3	1	5	2	3	1	5	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:37737192C>A	ENST00000539465.1	+	14	2094	c.1501C>A	c.(1501-1503)Ctc>Atc	p.L501I	FRMPD1_ENST00000377765.3_Missense_Mutation_p.L501I|FRMPD1_ENST00000536622.1_Missense_Mutation_p.L323I|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.L370I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	501						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCATTTTCCTCTGGCCTGG	0.527																																																	0													108	96	100					9																	37737192		2203	4300	6503	SO:0001583	missense	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1501C>A	9.37:g.37737192C>A	ENSP00000444411:p.Leu501Ile		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.L501I	ENST00000539465.1	37	c.1501	CCDS6612.1	9	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025289	0.35701	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.45	3.48	0.39840	.	0.403653	0.26542	N	0.023797	T	0.05593	0.0147	N	0.08118	0	0.23043	N	0.998388	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.37641	-0.9697	10	0.21014	T	0.42	-3.577	12.1514	0.54051	0.3089:0.6911:0.0:0.0	.	370;501	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	I	501;501;323;370	ENSP00000366995:L501I;ENSP00000444411:L501I;ENSP00000437762:L323I;ENSP00000444804:L370I	ENSP00000366995:L501I	L	+	1	0	FRMPD1	37727192	0.962000	0.33011	1.000000	0.80357	0.973000	0.67179	1.955000	0.40372	1.290000	0.44636	0.591000	0.81541	CTC	FRMPD1	-	NULL	ENSG00000070601		0.527	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1	-	0	58	0	C	NM_014907		37737192	1	tier1	-	no_errors	ENST00000377765	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A	A	37737192	C	A	37737192	3	1	87	1	0	0	0	0	1	0	0	0	6081	681	24	3	1551	3	FRMPD1	9	37737192	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	195481	37737192	103476239	952	24076											
ALDH1B1	219	genome.wustl.edu	37	chr9	38396185	38396185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcatcaaggtgtatcGgtactttgctggctgggctg	6	13	15	7	1	2	1	2	1	0	0	3	1	2	1	0	5	2	5	0	5	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:38396185G>A	ENST00000377698.3	+	2	593	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	147					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		AAGGTGTATCGGTACTTTGCT	0.557																																																	0													115	116	116					9																	38396185		2203	4300	6503	SO:0001583	missense	0			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"Aldehyde dehydrogenases"	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.440G>A	9.37:g.38396185G>A	ENSP00000366927:p.Arg147Gln		B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.R147Q	ENST00000377698.3	37	c.440	CCDS6615.1	9	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984445	0.74474	.	.	ENSG00000137124	ENST00000377698	T	0.78595	-1.19	5.5	4.61	0.57282	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.56097	D	0.000030	D	0.82751	0.5105	M	0.75447	2.3	0.49798	D	0.999821	D	0.61697	0.99	P	0.53102	0.718	D	0.84677	0.0715	10	0.72032	D	0.01	.	12.1353	0.53968	0.0834:0.0:0.9166:0.0	.	147	P30837	AL1B1_HUMAN	Q	147	ENSP00000366927:R147Q	ENSP00000366927:R147Q	R	+	2	0	ALDH1B1	38386185	1.000000	0.71417	0.988000	0.46212	0.892000	0.51952	7.237000	0.78164	1.340000	0.45581	0.655000	0.94253	CGG	ALDH1B1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000137124		0.557	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1B1	HGNC	protein_coding	OTTHUMT00000052492.1	-	0	27	0	G			38396185	1	tier1	-	no_errors	ENST00000377698	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A	A	38396185	G	A	38396185	3	1	87	1	0	0	0	0	1	0	0	0	493	1116	39	1	442	1	ALDH1B1	9	38396185	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	658993	38396185	102817246	953	24077											
PGM5	5239	genome.wustl.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	11	15	12	3	1	0	3	0	1	0	2	0	7	0	6	0	4	0	1	0	4	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:70993121C>T	ENST00000396396.1	+	2	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443																																																	0													38	42	41					9																	70993121		2196	4290	6486	SO:0001587	stop_gained	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.268C>T	9.37:g.70993121C>T	ENSP00000379678:p.Arg90*		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Nonsense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.R90*	ENST00000396396.1	37	c.268	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	37	6.608886	0.97701	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	.	.	.	4.37	4.37	0.52481	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	11.9035	0.52697	0.1751:0.8249:0.0:0.0	.	.	.	.	X	90;90;90;56	.	ENSP00000366531:R90X	R	+	1	2	PGM5	70182941	0.938000	0.31826	0.982000	0.44146	0.973000	0.67179	2.126000	0.42026	2.131000	0.65755	0.544000	0.68410	CGA	PGM5	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000154330		0.443	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	-	0	71	0	C	NM_021965		70993121	1	tier1	-	no_errors	ENST00000396396	ensembl	human	known	74_37	nonsense	10.48	94	11	SNP	0.949	T	T	70993121	C	T	70993121	4	4	87	1	0	0	0	0	0	1	0	0	11840	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	32596936	70993121	70220310	954	24078											
PGM5	5239	genome.wustl.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	9	12	11	9	2	1	2	0	1	1	1	3	4	1	3	1	3	1	1	1	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.I98V	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478																																																	3	Substitution - Missense(3)	endometrium(3)											35	38	37					9																	70993145		2198	4289	6487	SO:0001583	missense	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.292A>G	9.37:g.70993145A>G	ENSP00000379678:p.Ile98Val		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.I98V	ENST00000396396.1	37	c.292	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	.	14.68	2.608357	0.46527	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.62498	0.02;0.02;0.02	4.37	4.37	0.52481	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.137251	0.48286	U	0.000197	T	0.73853	0.3640	M	0.88310	2.945	0.45502	D	0.998467	B	0.31227	0.314	P	0.45167	0.472	T	0.76953	-0.2768	10	0.72032	D	0.01	.	8.4592	0.32917	0.8259:0.0:0.0:0.1741	.	98	Q15124	PGM5_HUMAN	V	98;98;98;64	ENSP00000379678:I98V;ENSP00000379674:I98V;ENSP00000394864:I64V	ENSP00000366531:I98V	I	+	1	0	PGM5	70182965	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.606000	0.61126	1.730000	0.51580	0.445000	0.29226	ATC	PGM5	-	pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000154330		0.478	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	-	0	93	0	A	NM_021965		70993145	1	tier1	-	no_errors	ENST00000396396	ensembl	human	known	74_37	missense	8.33	88	8	SNP	1.000	G	G	70993145	A	G	70993145	3	3	87	1	0	0	0	0	1	0	0	0	11840	217	8	4	298	4	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	24	70993145	70220286	955	24079											
APBA1	320	genome.wustl.edu	37	chr9	72131557	72131557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgctcctggaggccgccGtagtcggcatagggctcgga	6	7	16	12	5	0	0	0	0	0	0	3	2	1	2	3	5	1	4	3	5	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:72131557G>A	ENST00000265381.4	-	2	792	c.570C>T	c.(568-570)taC>taT	p.Y190Y		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	190					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGAGGCCGCCGTAGTCGGCAT	0.677																																																	0													29	29	29					9																	72131557		2202	4298	6500	SO:0001819	synonymous_variant	0			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.570C>T	9.37:g.72131557G>A			O14914|O60570|Q5VYR8	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.Y190	ENST00000265381.4	37	c.570	CCDS6630.1	9																																																																																			APBA1	-	NULL	ENSG00000107282		0.677	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA1	HGNC	protein_coding	OTTHUMT00000052589.2	-	0	50	0	G	NM_001163		72131557	-1	tier1	-	no_errors	ENST00000265381	ensembl	human	known	74_37	silent	19.57	37	9	SNP	0.984	A	A	72131557	G	A	72131557	2	1	87	1	0	0	0	0	0	0	0	1	756	1140	40	1		1	APBA1	9	72131557	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1138412	72131557	69081874	956	24080											
C9orf135	138255	genome.wustl.edu	37	chr9	72435881	72435881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaccggacttggtggagcGcaagggctccctgaccctcc	7	6	12	16	2	0	1	0	1	0	0	2	3	2	3	5	4	1	2	5	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:72435881G>A	ENST00000377197.3	+	1	173	c.86G>A	c.(85-87)cGc>cAc	p.R29H	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.R29H|C9orf135-AS1_ENST00000439418.1_lincRNA	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	29						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TTGGTGGAGCGCAAGGGCTCC	0.597																																																	0													69	60	63					9																	72435881		2203	4300	6503	SO:0001583	missense	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.86G>A	9.37:g.72435881G>A	ENSP00000366402:p.Arg29His		A7E2U4|B2RN61	Missense_Mutation	SNP	NULL	p.R29H	ENST00000377197.3	37	c.86	CCDS35041.1	9	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486052	0.84854	.	.	ENSG00000204711	ENST00000377197;ENST00000527647	.	.	.	4.8	4.8	0.61643	.	0.000000	0.47093	D	0.000244	T	0.76227	0.3958	M	0.65498	2.005	0.40500	D	0.980637	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79342	-0.1843	9	0.87932	D	0	-5.2651	13.2471	0.60029	0.0:0.0:1.0:0.0	.	29;29	A7E2U4;Q5VTT2	.;CI135_HUMAN	H	29	.	ENSP00000366402:R29H	R	+	2	0	C9orf135	71625701	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.536000	0.60636	2.488000	0.83962	0.655000	0.94253	CGC	C9orf135	-	NULL	ENSG00000204711		0.597	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	-	0	29	0	G	NM_001010940		72435881	1	tier1	-	no_errors	ENST00000377197	ensembl	human	known	74_37	missense	25.00	33	11	SNP	1.000	A	A	72435881	G	A	72435881	3	1	87	1	0	0	0	0	1	0	0	0	2465	1087	38	1	88	1	C9orf135	9	72435881	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	304324	72435881	68777550	957	24081											
RASEF	158158	genome.wustl.edu	37	chr9	85637251	85637251	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaacccagaaactcacGtctttccgtgtcttatgttc	8	13	7	13	2	3	1	1	0	2	1	5	1	4	1	3	1	2	1	3	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:85637251G>A	ENST00000376447.3	-	3	929	c.669C>T	c.(667-669)gaC>gaT	p.D223D		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	223					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGAAACTCACGTCTTTCCGTG	0.502																																																	0													251	213	226					9																	85637251		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"EF-hand domain containing", "RAB, member RAS oncogene"	26464	protein-coding gene	gene with protein product		611344	"RAB45, member RAS oncogene family"	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.669+1C>T	9.37:g.85637251G>A			A6NC29|Q96N04	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.D223	ENST00000376447.3	37	c.669	CCDS6662.1	9																																																																																			RASEF	-	superfamily_Vinculin/catenin	ENSG00000165105		0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	HGNC	protein_coding	OTTHUMT00000052825.1	-	0	54	0	G	NM_152573	Silent	85637251	-1	tier1	-	no_errors	ENST00000376447	ensembl	human	known	74_37	silent	26.23	45	16	SNP	0.080	A	A	85637251	G	A	85637251	5	1	87	1	0	0	0	0	0	0	1	0	13113	1159	40	1	1613	1	RASEF	9	85637251	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	13201370	85637251	55576180	958	24082											
KIF27	55582	genome.wustl.edu	37	chr9	86465154	86465155	+	Frame_Shift_Ins	INS	-	-	T																															atcccgttccagaactttcaINSttttcatttcttcattatat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:86465154_86465155insT	ENST00000297814.2	-	16	3558_3559	c.3415_3416insA	c.(3415-3417)atgfs	p.M1139fs	KIF27_ENST00000334204.2_Frame_Shift_Ins_p.M1042fs|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|KIF27_ENST00000413982.1_Frame_Shift_Ins_p.M1073fs|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1139					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CAGAACTTTCATTTTCATTTCT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3416dupA	9.37:g.86465158_86465158dupT	ENSP00000297814:p.Met1139fs		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.M1139fs	ENST00000297814.2	37	c.3416_3415	CCDS6665.1	9																																																																																			KIF27	-	NULL	ENSG00000165115		0.381	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1		0	116	0	-	NM_017576		86465155	-1	tier1		no_errors	ENST00000297814	ensembl	human	known	74_37	frame_shift_ins	10.00	90	10	INS	1.000:1.000	T	T	86465155	-	T	86465154	7	5	87	1	0	1	1	0	0	0	0	0	8323	217	8	0	801	0	KIF27	9	86465154	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	827903	86465154	54748277	959	24083											
SLC28A3	64078	genome.wustl.edu	37	chr9	86955495	86955495	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctctgctcacctggaaGcccacgttgctgtagccctc	8	9	9	15	1	2	0	1	0	1	0	3	1	2	1	3	1	5	5	3	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:86955495G>T	ENST00000376238.4	-	1	103	c.54C>A	c.(52-54)ggC>ggA	p.G18G	SLC28A3_ENST00000537648.1_5'UTR|SLC28A3_ENST00000495823.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	18					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCACCTGGAAGCCCACGTTGC	0.537																																					Ovarian(106;425 1539 34835 42413 43572)												0													146	128	134					9																	86955495		2203	4300	6503	SO:0001819	synonymous_variant	0			AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"Solute carriers"	16484	protein-coding gene	gene with protein product		608269	"solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.54C>A	9.37:g.86955495G>T			A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.G18	ENST00000376238.4	37	c.54	CCDS6670.1	9																																																																																			SLC28A3	-	NULL	ENSG00000197506		0.537	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC28A3	HGNC	protein_coding	OTTHUMT00000052874.1	-	0	63	0	G	NM_022127		86955495	-1	tier1	-	no_errors	ENST00000376238	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.013	T	T	86955495	G	T	86955495	2	4	87	1	0	0	0	0	0	0	0	1	14578	958	34	3		3	SLC28A3	9	86955495	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	490341	86955495	54257936	960	24084											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88932151	88932151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaatgttttctgaggActcttgctaattcttcaata	10	17	6	8	0	4	2	1	2	3	0	4	3	4	3	1	1	2	2	1	1	5	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:88932151A>G	ENST00000375963.3	-	17	3429	c.3257T>C	c.(3256-3258)gTc>gCc	p.V1086A	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.V850A|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.V24A|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.V375A|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.V1086A	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1086					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TTTTCTGAGGACTCTTGCTAA	0.363																																																	0													88	93	91					9																	88932151		2203	4300	6503	SO:0001583	missense	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3257T>C	9.37:g.88932151A>G	ENSP00000365130:p.Val1086Ala		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V1086A	ENST00000375963.3	37	c.3257	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	A	13.67	2.306467	0.40795	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09	4.73	4.73	0.59995	.	0.500214	0.21004	N	0.081818	T	0.26484	0.0647	N	0.11427	0.14	0.34870	D	0.743471	B;B;B	0.27416	0.005;0.178;0.0	B;B;B	0.30782	0.006;0.12;0.003	T	0.33777	-0.9855	10	0.23302	T	0.38	-19.1904	14.3451	0.66654	1.0:0.0:0.0:0.0	.	1086;850;1086	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	A	375;850;1086;24;1086	ENSP00000277141:V375A;ENSP00000365127:V850A;ENSP00000365128:V1086A;ENSP00000365124:V24A;ENSP00000365130:V1086A	ENSP00000277141:V375A	V	-	2	0	ZCCHC6	88121971	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.955000	0.63638	2.127000	0.65507	0.533000	0.62120	GTC	ZCCHC6	-	NULL	ENSG00000083223		0.363	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	-	0	86	0	A	NM_024617		88932151	-1	tier1	-	no_errors	ENST00000375963	ensembl	human	known	74_37	missense	15.28	61	11	SNP	1.000	G	G	88932151	A	G	88932151	3	3	87	1	0	0	0	0	1	0	0	0	17640	275	10	4	1274	4	ZCCHC6	9	88932151	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1976656	88932151	52281280	961	24085											
ZCCHC6	79670	genome.wustl.edu	37	chr9	88937823	88937823	+	Frame_Shift_Del	DEL	A	A	-																															gataagtttactgaattcatAaaaaaaatcagactgatcca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:88937823delA	ENST00000375963.3	-	13	3014	c.2842delT	c.(2842-2844)tatfs	p.Y948fs	ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.Y825fs|ZCCHC6_ENST00000277141.6_Frame_Shift_Del_p.Y237fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.Y948fs	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	948					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTGAATTCATAAAAAAAATCA	0.333																																																	0													51	55	53					9																	88937823		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"Zinc fingers, CCHC domain containing"	25817	protein-coding gene	gene with protein product	"TUTase7"					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2842delT	9.37:g.88937823delA	ENSP00000365130:p.Tyr948fs		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Y948fs	ENST00000375963.3	37	c.2842	CCDS35057.1	9																																																																																			ZCCHC6	-	NULL	ENSG00000083223		0.333	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1		0	35	0	A	NM_024617		88937823	-1	tier1		no_errors	ENST00000375963	ensembl	human	known	74_37	frame_shift_del	29.17	17	7	DEL	1.000	-	-	88937823	A	-	88937823	7	5	87	1	0	1	0	1	0	0	0	0	17640	362	13	0	1705	0	ZCCHC6	9	88937823	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	5672	88937823	52275608	962	24086											
DAPK1	1612	genome.wustl.edu	37	chr9	90321327	90321327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagacagacaacctgcaccGctcctgggctgatgaggagg	11	5	13	12	1	0	4	0	2	0	2	1	5	1	5	3	3	2	3	3	3	2	0	rs375598719		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:90321327G>A	ENST00000408954.3	+	26	3676	c.3341G>A	c.(3340-3342)cGc>cAc	p.R1114H	DAPK1_ENST00000491893.1_Missense_Mutation_p.R1048H|DAPK1_ENST00000358077.5_Missense_Mutation_p.R1114H|DAPK1_ENST00000469640.2_Missense_Mutation_p.R1139H|DAPK1_ENST00000472284.1_Missense_Mutation_p.R1114H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1114					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AACCTGCACCGCTCCTGGGCT	0.617									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0								G	HIS/ARG	0,4392		0,0,2196	87	100	95		3341	4.9	1	9		95	1,8583		0,1,4291	no	missense	DAPK1	NM_004938.2	29	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	benign	1114/1431	90321327	1,12975	2196	4292	6488	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3341G>A	9.37:g.90321327G>A	ENSP00000386135:p.Arg1114His		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.R1139H	ENST00000408954.3	37	c.3416	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558774	0.45590	0.0	1.16E-4	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.68181	-0.29;-0.29;-0.31;-0.29;-0.3	5.83	4.93	0.64822	.	0.000000	0.51477	D	0.000092	T	0.54870	0.1885	L	0.31294	0.92	0.53005	D	0.99996	B;B;B	0.21688	0.004;0.059;0.004	B;B;B	0.15052	0.003;0.012;0.003	T	0.49854	-0.8895	10	0.32370	T	0.25	.	15.0878	0.72167	0.0679:0.0:0.9321:0.0	.	1048;1114;1114	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	H	1114;1114;1139;1114;1048	ENSP00000350785:R1114H;ENSP00000417076:R1114H;ENSP00000418885:R1139H;ENSP00000386135:R1114H;ENSP00000419026:R1048H	ENSP00000350785:R1114H	R	+	2	0	DAPK1	89511147	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.743000	0.85020	1.474000	0.48178	0.561000	0.74099	CGC	DAPK1	-	NULL	ENSG00000196730		0.617	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	-	0	34	0	G	NM_004938		90321327	1	tier1	-	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	A	A	90321327	G	A	90321327	3	1	87	1	0	0	0	0	1	0	0	0	4244	1087	38	1	3439	1	DAPK1	9	90321327	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1383504	90321327	50892104	963	24087											
FAM75C1	441452	genome.wustl.edu	37	chr9	90535546	90535546	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcactcctcctcccctgCgggactccactctgttaaca	6	11	6	18	1	2	0	1	0	1	0	6	1	6	1	5	1	2	2	5	1	1	2	rs560034208		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:90535546C>T	ENST00000602681.1	+	0	1450							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCTCCCCTGCGGGACTCCAC	0.592																																																	0													55	48	50					9																	90535546		692	1591	2283			0			AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"family with sequence similarity 75, member C1"	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535546C>T				RNA	SNP	-	NULL	ENST00000602681.1	37	NULL		9																																																																																			SPATA31C1	-	-	ENSG00000230246		0.592	SPATA31C1-002	KNOWN	basic	processed_transcript	SPATA31C1	HGNC	pseudogene	OTTHUMT00000467313.1	-	0	207	0	C	NM_001145124		90535546	1	tier1	-	no_errors	ENST00000602681	ensembl	human	known	74_37	rna	22.60	137	40	SNP	0.000	T	T	90535546	C	T	90535546	1	4	87	0	1	0	0	0	0	0	0	0	5645	759	27	1		1	FAM75C1	9	90535546	RNA	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	214219	90535546	50677885	964	24088											
SEMA4D	10507	genome.wustl.edu	37	chr9	91994102	91994102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaggatgtgccggtgggCgcaggcttgggaggaagggt	6	7	21	7	3	0	0	0	0	0	0	1	3	0	3	1	7	1	3	1	7	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:91994102C>T	ENST00000450295.1	-	16	2882	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Silent_p.A702A|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000339861.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	702					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCCGGTGGGCGCAGGCTTGG	0.617																																																	0													74	73	74					9																	91994102		2203	4300	6503	SO:0001819	synonymous_variant	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.2106G>A	9.37:g.91994102C>T			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A702	ENST00000450295.1	37	c.2106	CCDS6685.1	9																																																																																			SEMA4D	-	NULL	ENSG00000187764		0.617	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1	-	0	49	0	C	NM_006378		91994102	-1	tier1	-	no_errors	ENST00000356444	ensembl	human	known	74_37	silent	19.30	45	11	SNP	0.000	T	T	91994102	C	T	91994102	2	4	87	1	0	0	0	0	0	0	0	1	14079	755	27	1		1	SEMA4D	9	91994102	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1458556	91994102	49219329	965	24089											
ROR2	4920	genome.wustl.edu	37	chr9	94538048	94538048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttggaatcgggccgtcCtgcccatcaaggggtcctaa	9	8	13	11	2	1	1	1	0	0	1	4	2	3	2	4	4	1	1	4	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:94538048C>A	ENST00000375708.3	-	2	348	c.150G>T	c.(148-150)caG>caT	p.Q50H	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_De_novo_Start_OutOfFrame	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	50					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCGGGCCGTCCTGCCCATCAA	0.522											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													85	71	76					9																	94538048		2203	4300	6503	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.150G>T	9.37:g.94538048C>A	ENSP00000364860:p.Gln50His	1306	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q50H	ENST00000375708.3	37	c.150	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	3.456	-0.110935	0.06924	.	.	ENSG00000169071	ENST00000375708	T	0.77358	-1.09	4.37	-3.4	0.04853	.	1.181470	0.06554	N	0.745471	T	0.44456	0.1294	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25187	-1.0139	10	0.14252	T	0.57	.	1.2614	0.02002	0.1738:0.3715:0.2671:0.1876	.	50;50	A1L4F5;Q01974	.;ROR2_HUMAN	H	50	ENSP00000364860:Q50H	ENSP00000364860:Q50H	Q	-	3	2	ROR2	93577869	0.022000	0.18835	0.010000	0.14722	0.129000	0.20672	-1.261000	0.02855	-0.669000	0.05289	0.561000	0.74099	CAG	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR	ENSG00000169071		0.522	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	-	0	39	0	C			94538048	-1	tier1	-	no_errors	ENST00000375708	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.013	A	A	94538048	C	A	94538048	3	1	87	1	0	0	0	0	1	0	0	0	13572	680	24	3	2713	3	ROR2	9	94538048	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2543946	94538048	46675383	966	24090											
IARS	3376	genome.wustl.edu	37	chr9	95009783	95009783	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgcccttagccgaatGccatacttgtttttatctgt	6	17	8	10	1	2	0	0	0	2	0	2	1	2	0	3	1	4	2	3	1	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95009783G>T	ENST00000375643.3	-	26	2933	c.2667C>A	c.(2665-2667)ggC>ggA	p.G889G	IARS_ENST00000447699.2_Silent_p.G779G|IARS_ENST00000375627.1_5'Flank|IARS_ENST00000443024.2_Silent_p.G889G|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	889					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TTAGCCGAATGCCATACTTGT	0.433																																																	0													163	134	144					9																	95009783		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	5330	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 1, cytoplasmic"	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2667C>A	9.37:g.95009783G>T			A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.G889	ENST00000375643.3	37	c.2667	CCDS6694.1	9																																																																																			IARS	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000196305		0.433	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2	-	0	48	0	G	NM_002161		95009783	-1	tier1	-	no_errors	ENST00000375643	ensembl	human	known	74_37	silent	16.36	46	9	SNP	0.913	T	T	95009783	G	T	95009783	2	4	87	1	0	0	0	0	0	0	0	1	7500	1306	46	3		3	IARS	9	95009783	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	471735	95009783	46203648	967	24091											
NOL8	55035	genome.wustl.edu	37	chr9	95077338	95077338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagtcttggggctcttGgagcctctgtcaaacttgca	6	12	14	9	0	4	0	1	0	3	0	4	2	4	2	1	4	3	2	1	4	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95077338G>A	ENST00000535387.1	-	6	1568	c.1569C>T	c.(1567-1569)tcC>tcT	p.S523S	NOL8_ENST00000442668.2_Silent_p.S523S|NOL8_ENST00000358855.4_Silent_p.S455S|NOL8_ENST00000542053.1_Silent_p.S455S|NOL8_ENST00000545558.1_Silent_p.S523S					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGGGCTCTTGGAGCCTCTGT	0.517																																																	0													93	87	89					9																	95077338		1852	4104	5956	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"RNA binding motif (RRM) containing"	23387	protein-coding gene	gene with protein product		611534	"chromosome 9 open reading frame 34"	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.1569C>T	9.37:g.95077338G>A				Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S523	ENST00000535387.1	37	c.1569	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.517	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	-	0	72	0	G	NM_017948		95077338	-1	tier1	-	no_errors	ENST00000442668	ensembl	human	known	74_37	silent	29.03	44	18	SNP	0.000	A	A	95077338	G	A	95077338	2	1	87	1	0	0	0	0	0	0	0	1	10566	1335	47	3		3	NOL8	9	95077338	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	67555	95077338	46136093	968	24092											
SUSD3	203328	genome.wustl.edu	37	chr9	95838183	95838183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccaaccaccagatggtggGgtctgggctcctcacctgca	7	8	11	15	0	2	1	1	0	1	1	4	1	4	1	5	4	2	2	5	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:95838183G>T	ENST00000375472.3	+	2	242	c.206G>T	c.(205-207)gGg>gTg	p.G69V	SUSD3_ENST00000375469.1_Missense_Mutation_p.G56V	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	69	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CAGATGGTGGGGTCTGGGCTC	0.627																																																	0													105	87	93					9																	95838183		2203	4300	6503	SO:0001583	missense	0			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.206G>T	9.37:g.95838183G>T	ENSP00000364621:p.Gly69Val		Q49AA6|Q6UXV7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G69V	ENST00000375472.3	37	c.206	CCDS6701.1	9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186786	0.78789	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.73258	-0.73;-0.73	5.25	4.36	0.52297	Complement control module (2);Sushi/SCR/CCP (3);	0.108809	0.64402	D	0.000006	T	0.81725	0.4883	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.982;0.993	D	0.83514	0.0082	10	0.87932	D	0	-29.4263	11.9716	0.53067	0.0853:0.0:0.9147:0.0	.	56;69	Q96L08-2;Q96L08	.;SUSD3_HUMAN	V	69;56	ENSP00000364621:G69V;ENSP00000364618:G56V	ENSP00000364618:G56V	G	+	2	0	SUSD3	94878004	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	7.490000	0.81461	1.359000	0.45940	0.561000	0.74099	GGG	SUSD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000157303		0.627	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD3	HGNC	protein_coding	OTTHUMT00000053120.1	-	0	45	0	G	NM_145006		95838183	1	tier1	-	no_errors	ENST00000375472	ensembl	human	known	74_37	missense	25.00	36	12	SNP	0.990	T	T	95838183	G	T	95838183	3	4	87	1	0	0	0	0	1	0	0	0	15456	1232	43	3	212	3	SUSD3	9	95838183	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	760845	95838183	45375248	969	24093											
WNK2	65268	genome.wustl.edu	37	chr9	96070769	96070769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaagacggtgggggccgCgcagctgaagcccacgctca	9	3	16	13	4	1	2	1	1	0	1	1	3	1	2	2	3	3	4	2	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:96070769C>T	ENST00000297954.4	+	28	6530	c.6530C>T	c.(6529-6531)gCg>gTg	p.A2177V	WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A2140V|WNK2_ENST00000427277.2_Missense_Mutation_p.A1752V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.A1789V	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2177					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGGGGGCCGCGCAGCTGAAG	0.647																																																	0													77	52	61					9																	96070769		2198	4295	6493	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6530C>T	9.37:g.96070769C>T	ENSP00000297954:p.Ala2177Val		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A2177V	ENST00000297954.4	37	c.6530		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.99|18.99	3.740570|3.740570	0.69304|0.69304	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251;ENST00000453718	T;T;T;T|.	0.72167|.	-0.63;-0.61;0.01;0.01|.	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	0.387058|.	0.25071|.	N|.	0.033365|.	T|T	0.39172|0.39172	0.1068|0.1068	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	0.999997|0.999997	D;P;B;D|.	0.58970|.	0.965;0.487;0.36;0.984|.	P;B;B;B|.	0.50162|.	0.633;0.015;0.023;0.381|.	T|T	0.23511|0.23511	-1.0186|-1.0186	10|5	0.66056|.	D|.	0.02|.	.|.	11.5415|11.5415	0.50669|0.50669	0.0:0.8561:0.0:0.1439|0.0:0.8561:0.0:0.1439	.|.	2140;1631;2140;2177|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	V|C	2177;2140;1789;1752|2136;937;614	ENSP00000297954:A2177V;ENSP00000378860:A2140V;ENSP00000297876:A1789V;ENSP00000411181:A1752V|.	ENSP00000297954:A2177V|.	A|R	+|+	2|1	0|0	WNK2|WNK2	95110590|95110590	0.581000|0.581000	0.26741|0.26741	0.002000|0.002000	0.10522|0.10522	0.976000|0.976000	0.68499|0.68499	4.836000|4.836000	0.62789|0.62789	1.350000|1.350000	0.45770|0.45770	0.655000|0.655000	0.94253|0.94253	GCG|CGC	WNK2	-	NULL	ENSG00000165238		0.647	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0	69	0	C	NM_006648		96070769	1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	10.00	63	7	SNP	0.001	T	T	96070769	C	T	96070769	3	4	87	1	0	0	0	0	1	0	0	0	17427	768	27	1	6525	1	WNK2	9	96070769	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	232586	96070769	45142662	970	24094											
WNK2	65268	genome.wustl.edu	37	chr9	96079878	96079878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtccaccacggtcattcCcggagccgccccgaccctgt	5	8	9	19	4	2	0	1	0	1	0	4	2	4	1	7	2	1	0	7	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:96079878C>T	ENST00000297954.4	+	29	6704	c.6704C>T	c.(6703-6705)cCc>cTc	p.P2235L	WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.P2198L|WNK2_ENST00000427277.2_Missense_Mutation_p.P1810L|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1847L	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2235					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						ACGGTCATTCCCGGAGCCGCC	0.657																																																	0													59	51	54					9																	96079878		2203	4298	6501	SO:0001583	missense	0			AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"serologically defined colon cancer antigen 43"	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6704C>T	9.37:g.96079878C>T	ENSP00000297954:p.Pro2235Leu		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P2235L	ENST00000297954.4	37	c.6704		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.03|19.03	3.748002|3.748002	0.69533|0.69533	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000432730;ENST00000448251	T;T;T;T|T;T	0.74842|0.79653	-0.88;-0.75;-0.12;-0.69|-1.29;-0.86	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	0.263665|0.263665	0.27236|0.27236	N|N	0.020290|0.020290	D|D	0.84977|0.84977	0.5592|0.5592	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.997;0.999;0.997|.	T|T	0.82694|0.82694	-0.0330|-0.0330	10|7	0.87932|.	D|.	0|.	.|.	18.2394|18.2394	0.89961|0.89961	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2198;1689;2198;2235|.	Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1|.	.;.;.;WNK2_HUMAN|.	L|S	2235;2198;1847;1810|2194;995	ENSP00000297954:P2235L;ENSP00000378860:P2198L;ENSP00000297876:P1847L;ENSP00000411181:P1810L|ENSP00000415038:P2194S;ENSP00000390441:P995S	ENSP00000297954:P2235L|.	P|P	+|+	2|1	0|0	WNK2|WNK2	95119699|95119699	0.993000|0.993000	0.37304|0.37304	0.656000|0.656000	0.29637|0.29637	0.132000|0.132000	0.20833|0.20833	3.358000|3.358000	0.52284|0.52284	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	CCC|CCG	WNK2	-	NULL	ENSG00000165238		0.657	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	HGNC	protein_coding	OTTHUMT00000317359.1	-	0	73	0	C	NM_006648		96079878	1	tier1	-	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.995	T	T	96079878	C	T	96079878	3	4	87	1	0	0	0	0	1	0	0	0	17427	623	22	3	6703	3	WNK2	9	96079878	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	9109	96079878	45133553	971	24095											
HIATL1	84641	genome.wustl.edu	37	chr9	97203357	97203357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgtcactcaggagcaCgagcgaagtacagcttatgg	11	8	13	9	2	2	1	2	1	0	0	2	4	2	2	0	2	4	4	0	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:97203357C>T	ENST00000375344.3	+	5	755	c.486C>T	c.(484-486)caC>caT	p.H162H	HIATL1_ENST00000428393.2_Silent_p.H97H	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	162					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				CTCAGGAGCACGAGCGAAGTA	0.353																																					Pancreas(77;1260 1915 1973 10423)												0													118	111	114					9																	97203357		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.486C>T	9.37:g.97203357C>T			B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.H162	ENST00000375344.3	37	c.486	CCDS6710.2	9																																																																																			HIATL1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000148110		0.353	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIATL1	HGNC	protein_coding	OTTHUMT00000053184.1	-	0	60	0	C	NM_032558		97203357	1	tier1	-	no_errors	ENST00000375344	ensembl	human	known	74_37	silent	31.58	39	18	SNP	0.524	T	T	97203357	C	T	97203357	2	4	87	1	0	0	0	0	0	0	0	1	7125	535	19	1		1	HIATL1	9	97203357	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1123479	97203357	44010074	972	24096											
PTCH1	5727	genome.wustl.edu	37	chr9	98211549	98211549	+	Frame_Shift_Del	DEL	G	G	-																															atggcgaagcggaccacgctGgggggtggctcaggggaggg																								rs138240178	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:98211549delG	ENST00000331920.6	-	22	3905	c.3606delC	c.(3604-3606)cccfs	p.P1202fs	PTCH1_ENST00000437951.1_Frame_Shift_Del_p.P1136fs|PTCH1_ENST00000421141.1_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000375274.2_Frame_Shift_Del_p.P1201fs|PTCH1_ENST00000429896.2_Frame_Shift_Del_p.P1051fs|PTCH1_ENST00000430669.2_Frame_Shift_Del_p.P1136fs|PTCH1_ENST00000418258.1_Frame_Shift_Del_p.P1051fs	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1202					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.S1203fs*52(2)|p.S1202fs*52(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGACCACGCTGGGGGGTGGCT	0.597																																																	3	Deletion - Frameshift(3)	large_intestine(3)											23	28	26					9																	98211549		2188	4275	6463	SO:0001589	frameshift_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3606delC	9.37:g.98211549delG	ENSP00000332353:p.Pro1202fs		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Frame_Shift_Del	DEL	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.S1203fs	ENST00000331920.6	37	c.3606	CCDS6714.1	9																																																																																			PTCH1	-	tigrfam_TM_rcpt_patched	ENSG00000185920		0.597	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2		0	76	0	G	NM_000264		98211549	-1	tier1		no_errors	ENST00000331920	ensembl	human	known	74_37	frame_shift_del	17.39	57	12	DEL	0.012	-	-	98211549	G	-	98211549	7	5	87	1	0	1	0	1	0	0	0	0	12772	1335	47	0	745	0	PTCH1	9	98211549	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	1008192	98211549	43001882	973	24097											
FAM22G	441457	genome.wustl.edu	37	chr9	99694528	99694528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctgggccatggccacaaGgggctcatggagagggcagc	9	4	17	11	1	1	1	1	0	0	1	1	2	1	1	2	6	1	3	2	6	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:99694528G>T	ENST00000372322.3	+	2	562	c.541G>T	c.(541-543)Ggg>Tgg	p.G181W	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Missense_Mutation_p.G181W	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	181																	ATGGCCACAAGGGGCTCATGG	0.657																																																	0													70	74	73					9																	99694528		1940	4112	6052	SO:0001583	missense	0				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"family with sequence similarity 22, member G"	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.541G>T	9.37:g.99694528G>T	ENSP00000361397:p.Gly181Trp		A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.G181W	ENST00000372322.3	37	c.541	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	9.935	1.215864	0.22373	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000417159;ENST00000375230	T;T	0.30714	1.52;1.52	1.03	-0.115	0.13560	.	1.255960	0.05333	N	0.528584	T	0.51652	0.1687	M	0.73962	2.25	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.28554	-1.0040	10	0.87932	D	0	.	3.9261	0.09263	0.0:0.0:0.5834:0.4166	.	181	Q5VZR2-2	.	W	181;181;181;62	ENSP00000346670:G181W;ENSP00000361397:G181W	ENSP00000346670:G181W	G	+	1	0	FAM22G	98734349	0.013000	0.17824	0.002000	0.10522	0.002000	0.02628	1.152000	0.31663	-0.019000	0.14055	0.479000	0.44913	GGG	NUTM2G	-	NULL	ENSG00000188152		0.657	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUTM2G	HGNC	protein_coding	OTTHUMT00000053291.2	-	0	376	0	G	NM_001170741		99694528	1	tier1	-	no_errors	ENST00000372322	ensembl	human	known	74_37	missense	18.00	286	63	SNP	0.002	T	T	99694528	G	T	99694528	3	4	87	1	0	0	0	0	1	0	0	0	5565	1000	35	3	547	3	FAM22G	9	99694528	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1482979	99694528	41518903	974	24098											
ANKS6	203286	genome.wustl.edu	37	chr9	101552504	101552504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtggtcagggttggcGcccttctccaccagctgctg	4	10	14	13	1	2	1	1	1	1	0	3	1	2	1	3	4	2	3	3	4	0	2	rs36024734		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:101552504G>A	ENST00000353234.4	-	2	791	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ANKS6_ENST00000375018.1_Silent_p.G248G|ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Silent_p.G53G			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	248						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGGGTTGGCGCCCTTCTCCA	0.667																																																	0													58	63	62					9																	101552504		2111	4232	6343	SO:0001819	synonymous_variant	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	26724	protein-coding gene	gene with protein product		615370	"sterile alpha motif domain containing 6", "ankyrin repeat domain 14"	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.744C>T	9.37:g.101552504G>A			A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G248	ENST00000353234.4	37	c.744	CCDS43856.1	9																																																																																			ANKS6	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165138		0.667	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	-	0	36	0	G	NM_173551		101552504	-1	tier1	-	no_errors	ENST00000375018	ensembl	human	known	74_37	silent	25.00	15	5	SNP	1.000	A	A	101552504	G	A	101552504	2	1	87	1	0	0	0	0	0	0	0	1	692	1074	38	1		1	ANKS6	9	101552504	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1857976	101552504	39660927	975	24099											
COL15A1	1306	genome.wustl.edu	37	chr9	101706453	101706453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcttgcaggaggaacaaCgggcagtgctggtgtctgct	9	9	14	9	1	2	0	0	0	2	0	2	2	2	2	0	4	5	4	0	4	2	1	rs369351245		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:101706453C>T	ENST00000375001.3	+	2	444	c.21C>T	c.(19-21)aaC>aaT	p.N7N	RP11-92C4.6_ENST00000605631.1_RNA|COL15A1_ENST00000467052.1_3'UTR	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	7					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGAGGAACAACGGGCAGTGCT	0.642																																																	0								C		0,4406		0,0,2203	99	73	82		21	1.9	0.6	9		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL15A1	NM_001855.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		7/1389	101706453	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2192	protein-coding gene	gene with protein product	"collagen type XV proteoglycan"	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.21C>T	9.37:g.101706453C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.N7	ENST00000375001.3	37	c.21	CCDS35081.1	9																																																																																			COL15A1	-	NULL	ENSG00000204291		0.642	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	-	0	69	0	C	NM_001855		101706453	1	tier1	-	no_errors	ENST00000375001	ensembl	human	known	74_37	silent	31.03	60	27	SNP	0.618	T	T	101706453	C	T	101706453	2	4	87	1	0	0	0	0	0	0	0	1	3679	535	19	1		1	COL15A1	9	101706453	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	153949	101706453	39506978	976	24100											
INVS	27130	genome.wustl.edu	37	chr9	102992043	102992043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctgatgttgaaggcaaGatcccacttcactgggcagc	10	10	10	11	0	1	3	1	2	0	1	3	3	3	3	2	2	1	3	2	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:102992043G>T	ENST00000262457.2	+	5	734	c.549G>T	c.(547-549)aaG>aaT	p.K183N	INVS_ENST00000460636.2_3'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.K183N|INVS_ENST00000541287.1_Missense_Mutation_p.K87N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	183					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTGAAGGCAAGATCCCACTTC	0.468																																																	0													145	114	125					9																	102992043		2203	4300	6503	SO:0001583	missense	0			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"Ankyrin repeat domain containing"	17870	protein-coding gene	gene with protein product	"nephrocystin 2"	243305	"nephronophthisis 2 (infantile)"	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.549G>T	9.37:g.102992043G>T	ENSP00000262457:p.Lys183Asn		A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt	p.K183N	ENST00000262457.2	37	c.549	CCDS6746.1	9	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270313	0.80469	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.68331	-0.31;-0.32;-0.31	5.51	4.62	0.57501	Ankyrin repeat-containing domain (3);	0.089528	0.85682	D	0.000000	T	0.64182	0.2575	N	0.12502	0.225	0.58432	D	0.999994	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.72338	0.977;0.958;0.977	T	0.65829	-0.6073	10	0.45353	T	0.12	.	9.1783	0.37125	0.2089:0.0:0.7911:0.0	.	87;183;183	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	N	183;87;183	ENSP00000262457:K183N;ENSP00000444454:K87N;ENSP00000262456:K183N	ENSP00000262456:K183N	K	+	3	2	INVS	102031864	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.475000	0.60210	1.327000	0.45338	0.585000	0.79938	AAG	INVS	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000119509		0.468	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	INVS	HGNC	protein_coding	OTTHUMT00000053407.1	-	0	31	0	G	NM_014425		102992043	1	tier1	-	no_errors	ENST00000262457	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	T	T	102992043	G	T	102992043	3	4	87	1	0	0	0	0	1	0	0	0	7814	933	33	3	563	3	INVS	9	102992043	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1285590	102992043	38221388	977	24101											
C9orf125	84302	genome.wustl.edu	37	chr9	104238840	104238840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcaaacgagttggtcgaagGgtcatcaccataatcatcct	12	10	8	11	2	4	0	4	0	0	0	6	2	5	0	2	2	1	1	2	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:104238840G>A	ENST00000374851.1	-	4	1682	c.535C>T	c.(535-537)Cct>Tct	p.P179S	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.P179S|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.P179S			Q9BRR3	TM246_HUMAN	transmembrane protein 246	179						integral component of membrane (GO:0016021)											TTGGTCGAAGGGTCATCACCA	0.502																																																	0													110	92	98					9																	104238840		2203	4300	6503	SO:0001583	missense	0			BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 125"	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.535C>T	9.37:g.104238840G>A	ENSP00000363984:p.Pro179Ser		Q49AQ4	Missense_Mutation	SNP	NULL	p.P179S	ENST00000374851.1	37	c.535	CCDS6757.1	9	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164385	0.38217	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.5	4.58	0.56647	.	0.531856	0.19205	N	0.120085	T	0.43122	0.1233	N	0.22421	0.69	0.46044	D	0.998832	B	0.27732	0.187	B	0.27500	0.08	T	0.25257	-1.0137	9	0.22109	T	0.4	-12.9652	14.4569	0.67423	0.075:0.0:0.925:0.0	.	179	Q9BRR3	CI125_HUMAN	S	179	.	ENSP00000363980:P179S	P	-	1	0	C9orf125	103278661	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.293000	0.43558	2.747000	0.94245	0.650000	0.86243	CCT	TMEM246	-	NULL	ENSG00000165152		0.502	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM246	HGNC	protein_coding	OTTHUMT00000053444.1	-	0	53	0	G	NM_032342		104238840	-1	tier1	-	no_errors	ENST00000374847	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	104238840	G	A	104238840	3	1	87	1	0	0	0	0	1	0	0	0	2461	1232	43	3	680	3	C9orf125	9	104238840	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1246797	104238840	36974591	978	24102											
RNF20	56254	genome.wustl.edu	37	chr9	104309733	104309733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagttggctcagaaccGtctctgtgagctggagaaac	12	8	12	9	1	2	4	1	1	1	3	3	5	2	4	1	2	3	3	1	2	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:104309733G>A	ENST00000389120.3	+	9	1115	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	342					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GCTCAGAACCGTCTCTGTGAG	0.413																																																	0													76	78	77					9																	104309733		2203	4300	6503	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"RING-type (C3HC4) zinc fingers"	10062	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"	607699	"ring finger protein 20"			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1025G>A	9.37:g.104309733G>A	ENSP00000373772:p.Arg342His		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.R342H	ENST00000389120.3	37	c.1025	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115966	0.77323	.	.	ENSG00000155827	ENST00000389120	T	0.30182	1.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.59945	0.2231	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.62709	-0.6797	10	0.59425	D	0.04	-9.1354	19.1689	0.93569	0.0:0.0:1.0:0.0	.	342	Q5VTR2	BRE1A_HUMAN	H	342	ENSP00000373772:R342H	ENSP00000373772:R342H	R	+	2	0	RNF20	103349554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.621000	0.83083	2.691000	0.91804	0.563000	0.77884	CGT	RNF20	-	superfamily_STAT_TF_coiled-coil	ENSG00000155827		0.413	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	-	0	43	0	G	NM_019592		104309733	1	tier1	-	no_errors	ENST00000389120	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	A	A	104309733	G	A	104309733	3	1	87	1	0	0	0	0	1	0	0	0	13518	1145	40	1	1055	1	RNF20	9	104309733	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	70893	104309733	36903698	979	24103											
GRIN3A	116443	genome.wustl.edu	37	chr9	104390676	104390676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaatccttgggaaggaTgatgtaactatgagggagaa	14	8	15	4	1	0	3	0	2	0	1	1	7	1	6	1	4	2	1	1	4	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:104390676T>C	ENST00000361820.3	-	4	2960	c.2360A>G	c.(2359-2361)cAt>cGt	p.H787R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	787					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTGGGAAGGATGATGTAACTA	0.323																																																	0													81	72	75					9																	104390676		2203	4300	6503	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2360A>G	9.37:g.104390676T>C	ENSP00000355155:p.His787Arg		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.H787R	ENST00000361820.3	37	c.2360	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	T	8.853	0.945039	0.18356	.	.	ENSG00000198785	ENST00000361820	T	0.52057	0.68	5.85	5.85	0.93711	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.49081	0.1536	L	0.36672	1.1	0.80722	D	1	P	0.50369	0.934	P	0.54026	0.74	T	0.35301	-0.9794	10	0.07990	T	0.79	.	16.2421	0.82418	0.0:0.0:0.0:1.0	.	787	Q8TCU5	NMD3A_HUMAN	R	787	ENSP00000355155:H787R	ENSP00000355155:H787R	H	-	2	0	GRIN3A	103430497	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	CAT	GRIN3A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000198785		0.323	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	-	0	47	0	T			104390676	-1	tier1	-	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	C	C	104390676	T	C	104390676	3	2	87	1	0	0	0	0	1	0	0	0	6810	1464	51	4	1011	4	GRIN3A	9	104390676	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	80943	104390676	36822755	980	24104											
KLF4	9314	genome.wustl.edu	37	chr9	110249642	110249642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggatgggtaattgggccCcgggtggggatggaagccgg	8	6	21	6	2	0	0	0	0	0	0	0	4	0	3	3	8	1	1	3	8	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:110249642C>T	ENST00000374672.4	-	3	1506	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	345	Pro-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TAATTGGGCCCCGGGTGGGGA	0.652																																																	0													19	18	18					9																	110249642		2202	4300	6502	SO:0001583	missense	0			AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1033G>A	9.37:g.110249642C>T	ENSP00000363804:p.Gly345Arg		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G345R	ENST00000374672.4	37	c.1033	CCDS6770.2	9	.	.	.	.	.	.	.	.	.	.	C	8.140	0.784933	0.16189	.	.	ENSG00000136826	ENST00000374672	T	0.05925	3.37	4.78	3.88	0.44766	.	0.161679	0.29335	N	0.012459	T	0.04227	0.0117	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.14012	0.006;0.009	B;B	0.16722	0.007;0.016	T	0.34900	-0.9810	10	0.54805	T	0.06	.	8.0576	0.30614	0.157:0.7608:0.0:0.0821	.	345;345	O43474;O43474-1	KLF4_HUMAN;.	R	345	ENSP00000363804:G345R	ENSP00000363804:G345R	G	-	1	0	KLF4	109289463	0.093000	0.21703	0.838000	0.33150	0.312000	0.27988	2.473000	0.45145	1.138000	0.42230	-0.229000	0.12294	GGG	KLF4	-	NULL	ENSG00000136826		0.652	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF4	HGNC	protein_coding	OTTHUMT00000053556.2	-	0	11	0	C	NM_004235		110249642	-1	tier1	-	no_errors	ENST00000374672	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.153	T	T	110249642	C	T	110249642	3	4	87	1	0	0	0	0	1	0	0	0	8375	623	22	3	418	3	KLF4	9	110249642	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5858966	110249642	30963789	981	24105											
AKAP2	11217	genome.wustl.edu	37	chr9	112899369	112899370	+	In_Frame_Ins	INS	-	-	CAG																															tgctgctgcagaagcagttaINScagcagcagcagcagcagcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:112899369_112899370insCAG	ENST00000259318.7	+	2	1059_1060	c.852_853insCAG	c.(853-855)cag>CAGcag	p.285_285Q>QQ	AKAP2_ENST00000374525.1_In_Frame_Ins_p.374_374Q>QQ|PALM2-AKAP2_ENST00000302798.7_In_Frame_Ins_p.516_516Q>QQ|AKAP2_ENST00000434623.2_In_Frame_Ins_p.374_374Q>QQ|AKAP2_ENST00000555236.1_In_Frame_Ins_p.516_516Q>QQ|PALM2-AKAP2_ENST00000374530.3_In_Frame_Ins_p.516_516Q>QQ|AKAP2_ENST00000510514.5_In_Frame_Ins_p.516_516Q>QQ	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	285										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						agaagcagttacagcagcagca	0.55																																																	0																																										SO:0001652	inframe_insertion	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.868_870dupCAG	9.37:g.112899376_112899378dupCAG	ENSP00000259318:p.Gln290dup		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Ins	INS	pfam_Paralemmin,pfam_RII_binding_1	p.519in_frame_insQ	ENST00000259318.7	37	c.1545_1546	CCDS48003.1	9																																																																																			PALM2-AKAP2	-	NULL	ENSG00000157654		0.55	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3		0	27	0	-	NM_001004065		112899370	1	tier1		no_errors	ENST00000374530	ensembl	human	known	74_37	in_frame_ins	37.04	17	10	INS	0.145:0.823	CAG	CAG	112899370	-	CAG	112899369	7	5	87	1	0	1	1	0	0	0	0	0	451	388	14	0	1125	0	AKAP2	9	112899369	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2649727	112899369	28314062	982	24106											
KIAA0368	23392	genome.wustl.edu	37	chr9	114131441	114131441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgtccggaccccactgcTttcaagtgagttctaggata	8	12	11	10	1	2	1	1	1	1	0	3	3	3	3	3	3	1	3	3	3	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:114131441T>C	ENST00000338205.5	-	45	5206	c.4987A>G	c.(4987-4989)Agc>Ggc	p.S1663G	KIAA0368_ENST00000374378.3_Intron|KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.S1841G			Q5VYK3	ECM29_HUMAN	KIAA0368	1669					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACCCCACTGCTTTCAAGTGAG	0.408																																																	0													83	75	77					9																	114131441		1805	4073	5878	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4987A>G	9.37:g.114131441T>C	ENSP00000339889:p.Ser1663Gly		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S1841G	ENST00000338205.5	37	c.5521		9	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771421	0.49680	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.68479	-0.33	5.67	5.67	0.87782	.	0.098147	0.64402	D	0.000002	T	0.57946	0.2088	L	0.38531	1.155	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.52533	-0.8563	10	0.30078	T	0.28	.	15.9192	0.79547	0.0:0.0:0.0:1.0	.	1138	B3KXF2	.	G	1663;1841;1138	ENSP00000259335:S1841G	ENSP00000259335:S1841G	S	-	1	0	KIAA0368	113171262	0.998000	0.40836	0.965000	0.40720	0.706000	0.40770	3.225000	0.51246	2.164000	0.68074	0.533000	0.62120	AGC	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.408	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	-	0	76	0	T	NM_014686		114131441	-1	tier1	-	no_errors	ENST00000259335	ensembl	human	known	74_37	missense	12.50	56	8	SNP	0.997	C	C	114131441	T	C	114131441	3	2	87	1	0	0	0	0	1	0	0	0	8198	1609	56	4	552	4	KIAA0368	9	114131441	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1232072	114131441	27081990	983	24107											
C9orf91	203197	genome.wustl.edu	37	chr9	117389249	117389249	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgagaagatatatcaTctacaactcgaggcctatgc	14	9	8	10	1	2	2	1	1	1	2	3	4	2	2	2	1	3	0	2	1	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:117389249T>G	ENST00000288502.4	+	4	724	c.287T>G	c.(286-288)aTc>aGc	p.I96S	C9orf91_ENST00000374049.4_Missense_Mutation_p.I97S|C9orf91_ENST00000471206.1_3'UTR			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	96						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						AGATATATCATCTACAACTCG	0.567																																																	0													89	85	86					9																	117389249		2203	4300	6503	SO:0001583	missense	0			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.287T>G	9.37:g.117389249T>G	ENSP00000288502:p.Ile96Ser		A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	NULL	p.I97S	ENST00000288502.4	37	c.290	CCDS6808.1	9	.	.	.	.	.	.	.	.	.	.	T	16.32	3.091198	0.55968	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	5.8	5.8	0.92144	.	0.182612	0.47852	D	0.000210	T	0.55705	0.1937	L	0.44542	1.39	0.36688	D	0.87942	D;P	0.52996	0.957;0.867	P;B	0.51701	0.677;0.361	T	0.66135	-0.5999	9	0.72032	D	0.01	-11.9126	12.5467	0.56203	0.0:0.0:0.0:1.0	.	75;96	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	S	97;96	.	ENSP00000288502:I96S	I	+	2	0	C9orf91	116429070	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	4.208000	0.58486	2.209000	0.71365	0.533000	0.62120	ATC	C9orf91	-	NULL	ENSG00000157693		0.567	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	HGNC	protein_coding	OTTHUMT00000053780.1	-	0	46	0	T	NM_153045		117389249	1	tier1	-	no_errors	ENST00000374049	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	G	G	117389249	T	G	117389249	3	3	87	1	0	0	0	0	1	0	0	0	2512	1435	50	4	297	4	C9orf91	9	117389249	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3257808	117389249	23824182	984	24108											
TNFSF8	944	genome.wustl.edu	37	chr9	117692515	117692515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggccacggagcccgcCggcacatgcatggctgtgtc	5	7	15	14	3	0	0	0	0	0	0	1	1	0	1	3	5	2	4	3	5	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:117692515C>T	ENST00000223795.2	-	1	182	c.69G>A	c.(67-69)ccG>ccA	p.P23P		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	23					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CGGAGCCCGCCGGCACATGCA	0.582																																																	0													71	74	73					9																	117692515		2203	4300	6503	SO:0001819	synonymous_variant	0			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.69G>A	9.37:g.117692515C>T			O43404	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_CD30_ligand_type,pfscan_TNF_dom	p.P23	ENST00000223795.2	37	c.69	CCDS6810.1	9																																																																																			TNFSF8	-	pirsf_TNF_CD30_ligand_type	ENSG00000106952		0.582	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF8	HGNC	protein_coding	OTTHUMT00000055464.1		0	58	0	C			117692515	-1			no_errors	ENST00000223795	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.000	T	T	117692515	C	T	117692515	2	4	87	1	0	0	0	0	0	0	0	1	16358	639	23	1		1	TNFSF8	9	117692515	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	303266	117692515	23520916	985	24109											
FBXW2	26190	genome.wustl.edu	37	chr9	123550234	123550234	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcccaaatttttacaTgcagtctgccacacctctgt	9	12	6	14	0	2	0	0	0	2	0	2	0	2	0	4	0	5	1	4	0	2	3	rs549338236		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:123550234T>C	ENST00000608872.1	-	3	490	c.303A>G	c.(301-303)gcA>gcG	p.A101A	FBXW2_ENST00000340778.5_Silent_p.A101A	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	101	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AATTTTTACATGCAGTCTGCC	0.438																																																	0													114	110	111					9																	123550234		1950	4142	6092	SO:0001819	synonymous_variant	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"F-boxes / WD-40 domains", "WD repeat domain containing"	13608	protein-coding gene	gene with protein product		609071	"F-box and WD-40 domain protein 2"			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.303A>G	9.37:g.123550234T>C			B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A101	ENST00000608872.1	37	c.303	CCDS43872.1	9																																																																																			FBXW2	-	superfamily_F-box_dom,pfscan_F-box_dom	ENSG00000119402		0.438	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2		0	18	0	T			123550234	-1			no_errors	ENST00000608872	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.161	C	C	123550234	T	C	123550234	2	2	87	1	0	0	0	0	0	0	0	1	5788	1451	51	4		4	FBXW2	9	123550234	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	5857719	123550234	17663197	986	24110											
TTLL11	158135	genome.wustl.edu	37	chr9	124632949	124632949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgggcttcggggttggcGttgcagtctggagcactggt	4	11	19	7	2	1	0	0	0	1	0	2	1	1	1	0	7	2	5	0	7	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:124632949G>A	ENST00000321582.5	-	7	2017	c.1830C>T	c.(1828-1830)aaC>aaT	p.N610N	TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	0					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CGGGGTTGGCGTTGCAGTCTG	0.527																																																	0													181	164	169					9																	124632949		692	1591	2283	SO:0001819	synonymous_variant	0			AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"Tubulin tyrosine ligase-like family"	18113	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 20"	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000321582.5:c.1830C>T	9.37:g.124632949G>A				Silent	SNP	pfam_TTL/TTLL_fam	p.N610	ENST00000321582.5	37	c.1830	CCDS48012.1	9																																																																																			TTLL11	-	NULL	ENSG00000175764		0.527	TTLL11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL11	HGNC	protein_coding		-	0	46	0	G	XM_088486		124632949	-1	tier1	-	no_errors	ENST00000321582	ensembl	human	known	74_37	silent	47.22	19	17	SNP	0.000	A	A	124632949	G	A	124632949	2	1	87	1	0	0	0	0	0	0	0	1	16773	1136	40	1		1	TTLL11	9	124632949	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1082715	124632949	16580482	987	24111											
LHX6	26468	genome.wustl.edu	37	chr9	124967006	124967006	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggggcagctgtggggCgcccacgggcagatgcggaa	7	4	20	10	3	0	2	0	1	0	1	0	3	0	3	1	6	2	4	1	6	1	0	rs576331654		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:124967006C>T	ENST00000373755.2	-	0	1233				LHX6_ENST00000541397.2_Missense_Mutation_p.A359T|LHX6_ENST00000559895.1_3'UTR|LHX6_ENST00000394319.4_3'UTR|LHX6_ENST00000482062.1_3'UTR|LHX6_ENST00000340587.3_Missense_Mutation_p.A370T|LHX6_ENST00000464484.2_Missense_Mutation_p.A28T|LHX6_ENST00000373754.2_Missense_Mutation_p.A341T	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6						cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						AGCTGTGGGGCGCCCACGGGC	0.672													C|||	1	0.000199681	8e-04	0	5008	,	,		14369	0		0	False		,,,				2504	0																0													21	26	24					9																	124967006		2203	4297	6500	SO:0001624	3_prime_UTR_variant	0			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"Homeoboxes / LIM class"	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.*33G>A	9.37:g.124967006C>T			A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A370T	ENST00000373755.2	37	c.1108	CCDS56583.1	9	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569037	0.28003	.	.	ENSG00000106852	ENST00000373754;ENST00000340587;ENST00000541397	D;D;D	0.87179	-2.22;-2.07;-2.13	5.52	1.63	0.23807	.	.	.	.	.	T	0.70911	0.3278	.	.	.	0.19300	N	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.53012	-0.8498	8	0.09590	T	0.72	.	5.4639	0.16632	0.0:0.2804:0.1479:0.5716	.	370	Q9UPM6-4	.	T	341;370;359	ENSP00000362859:A341T;ENSP00000340137:A370T;ENSP00000441464:A359T	ENSP00000340137:A370T	A	-	1	0	LHX6	124006827	0.967000	0.33354	0.998000	0.56505	0.968000	0.65278	0.095000	0.15127	0.019000	0.15079	-0.345000	0.07892	GCC	LHX6	-	NULL	ENSG00000106852		0.672	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2	-	0	91	0	C	NM_014368		124967006	-1	tier1	-	no_errors	ENST00000340587	ensembl	human	known	74_37	missense	23.88	50	16	SNP	0.996	T	T	124967006	C	T	124967006	1	4	87	0	1	0	0	0	0	0	0	0	8804	768	27	1		1	LHX6	9	124967006	3'UTR	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	334057	124967006	16246425	988	24112											
MRRF	92399	genome.wustl.edu	37	chr9	125047541	125047541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgccacagctgatttTggtgaatatggccagcttcc	9	11	11	10	1	0	2	0	2	0	0	2	3	1	2	3	2	2	2	3	2	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:125047541T>C	ENST00000344641.3	+	4	745	c.434T>C	c.(433-435)tTg>tCg	p.L145S	MRRF_ENST00000546115.1_Missense_Mutation_p.L145S|MRRF_ENST00000297908.3_Missense_Mutation_p.L93S|MRRF_ENST00000373723.5_Missense_Mutation_p.L145S|MRRF_ENST00000394315.3_Missense_Mutation_p.L145S|MRRF_ENST00000373730.3_Missense_Mutation_p.L145S|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000373729.1_Missense_Mutation_p.L101S	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	145					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						CAGCTGATTTTGGTGAATATG	0.478																																																	0													87	91	89					9																	125047541		2203	4300	6503	SO:0001583	missense	0			AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.434T>C	9.37:g.125047541T>C	ENSP00000343867:p.Leu145Ser		A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Missense_Mutation	SNP	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	p.L145S	ENST00000344641.3	37	c.434	CCDS6840.1	9	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644322	0.87859	.	.	ENSG00000148187	ENST00000297908;ENST00000373723;ENST00000373730;ENST00000546115;ENST00000344641;ENST00000441707;ENST00000373729;ENST00000373727;ENST00000373728;ENST00000373724;ENST00000394315	T;T;T;T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.48	5.48	0.80851	Ribosome recycling factor domain (2);Arginine repressor, C-terminal (1);	0.368479	0.31233	N	0.008004	T	0.48466	0.1501	L	0.28694	0.88	0.44711	D	0.997702	B;D;D;P	0.89917	0.34;1.0;0.991;0.934	B;D;P;P	0.71870	0.171;0.975;0.74;0.561	T	0.31696	-0.9934	10	0.10636	T	0.68	-1.8098	15.0539	0.71897	0.0:0.0:0.0:1.0	.	93;145;145;145	Q96E11-8;Q96E11-5;Q96E11-2;Q96E11	.;.;.;RRFM_HUMAN	S	93;145;145;145;145;145;101;145;145;101;145	ENSP00000297908:L93S;ENSP00000362828:L145S;ENSP00000362835:L145S;ENSP00000445588:L145S;ENSP00000343867:L145S;ENSP00000395072:L145S;ENSP00000362834:L101S;ENSP00000362832:L145S;ENSP00000362833:L145S;ENSP00000362829:L101S;ENSP00000377850:L145S	ENSP00000297908:L93S	L	+	2	0	MRRF	124087362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.626000	0.67777	2.204000	0.70986	0.528000	0.53228	TTG	MRRF	-	pfam_Ribosome_recyc_fac_dom,superfamily_Ribosome_recyc_fac_dom	ENSG00000148187		0.478	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRRF	HGNC	protein_coding	OTTHUMT00000053914.1		0	34	0	T	NM_138777		125047541	1			no_errors	ENST00000344641	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	C	C	125047541	T	C	125047541	3	2	87	1	0	0	0	0	1	0	0	0	9888	1821	63	4	444	4	MRRF	9	125047541	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	80535	125047541	16165890	989	24113											
OR1J2	26740	genome.wustl.edu	37	chr9	125273680	125273680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgagctggtcatgttCacagtaggggtggtggtcat	8	12	14	7	0	4	1	4	1	0	0	4	1	4	1	0	5	1	3	0	5	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:125273680C>A	ENST00000335302.5	+	1	600	c.600C>A	c.(598-600)ttC>ttA	p.F200L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TGGTCATGTTCACAGTAGGGG	0.522																																																	0													143	116	125					9																	125273680		2203	4300	6503	SO:0001583	missense	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.600C>A	9.37:g.125273680C>A	ENSP00000335575:p.Phe200Leu		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F200L	ENST00000335302.5	37	c.600	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	8.206	0.799175	0.16397	.	.	ENSG00000197233	ENST00000335302	T	0.00042	8.84	4.91	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.228566	0.22801	U	0.055474	T	0.00073	0.0002	N	0.16016	0.355	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.15235	-1.0444	10	0.38643	T	0.18	.	4.6758	0.12712	0.1524:0.6:0.0:0.2476	.	200	Q8NGS2	OR1J2_HUMAN	L	200	ENSP00000335575:F200L	ENSP00000335575:F200L	F	+	3	2	OR1J2	124313501	0.000000	0.05858	0.174000	0.22961	0.009000	0.06853	-0.951000	0.03885	0.694000	0.31654	-0.156000	0.13503	TTC	OR1J2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000197233		0.522	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	-	0	95	0	C			125273680	1	tier1	-	no_errors	ENST00000335302	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.296	A	A	125273680	C	A	125273680	3	1	87	1	0	0	0	0	1	0	0	0	10999	825	29	3	602	3	OR1J2	9	125273680	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	226139	125273680	15939751	990	24114											
OR1N1	138883	genome.wustl.edu	37	chr9	125289191	125289191	+	Frame_Shift_Del	DEL	G	G	-																															catgactgtggagtagcagaGggggtggcaaatggccacat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:125289191delG	ENST00000304880.2	-	1	381	c.382delC	c.(382-384)ctcfs	p.L128fs		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAGTAGCAGAGGGGGTGGCAA	0.517																																																	0													95	81	86					9																	125289191		2203	4300	6503	SO:0001589	frameshift_variant	0			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.382delC	9.37:g.125289191delG	ENSP00000306974:p.Leu128fs		A3KFM1|O43870|Q6IF16|Q96R93	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L128fs	ENST00000304880.2	37	c.382	CCDS6844.1	9																																																																																			OR1N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000171505		0.517	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1		0	31	0	G			125289191	-1	tier1		no_errors	ENST00000304880	ensembl	human	known	74_37	frame_shift_del	14.29	42	7	DEL	0.800	-	-	125289191	G	-	125289191	7	5	87	1	0	1	0	1	0	0	0	0	11008	1000	35	0	557	0	OR1N1	9	125289191	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	15511	125289191	15924240	991	24115											
RABEPK	10244	genome.wustl.edu	37	chr9	127990265	127990265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgtgatggtggcagcAgggacaaagctcttcatcca	10	9	13	9	0	3	1	2	1	1	0	4	2	4	2	1	4	2	3	1	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:127990265A>G	ENST00000373538.3	+	6	913	c.603A>G	c.(601-603)gcA>gcG	p.A201A	RABEPK_ENST00000394125.4_Silent_p.A201A|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Silent_p.A150A	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	201					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGTGGCAGCAGGGACAAAGC	0.502																																																	0													77	74	75					9																	127990265		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.603A>G	9.37:g.127990265A>G			A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Silent	SNP	pfam_Kelch_2,pfam_Kelch_1	p.A201	ENST00000373538.3	37	c.603	CCDS6862.1	9																																																																																			RABEPK	-	pfam_Kelch_1	ENSG00000136933		0.502	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	-	0	69	0	A	NM_005833		127990265	1	tier1	-	no_errors	ENST00000373538	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.997	G	G	127990265	A	G	127990265	2	3	87	1	0	0	0	0	0	0	0	1	13008	175	7	4		4	RABEPK	9	127990265	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2701074	127990265	13223166	992	24116											
ANGPTL2	23452	genome.wustl.edu	37	chr9	129870796	129870796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacctcaggctccttggagTtgacgcagatggcacccgtg	7	8	13	13	2	1	2	1	1	0	1	2	3	2	3	3	3	0	5	3	3	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:129870796T>C	ENST00000373425.3	-	2	832	c.215A>G	c.(214-216)aAc>aGc	p.N72S	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	72					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTCCTTGGAGTTGACGCAGAT	0.572																																																	0													70	58	62					9																	129870796		2203	4300	6503	SO:0001583	missense	0			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"Fibrinogen C domain containing"	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.215A>G	9.37:g.129870796T>C	ENSP00000362524:p.Asn72Ser		Q5JT58|Q8NCH7	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.N72S	ENST00000373425.3	37	c.215	CCDS6868.1	9	.	.	.	.	.	.	.	.	.	.	T	6.677	0.493577	0.12702	.	.	ENSG00000136859	ENST00000373425	T	0.37235	1.21	4.78	4.78	0.61160	.	0.096465	0.64402	D	0.000001	T	0.27663	0.0680	L	0.33245	0.995	0.80722	D	1	B	0.22480	0.07	B	0.17722	0.019	T	0.05649	-1.0872	10	0.20046	T	0.44	.	14.3201	0.66479	0.0:0.0:0.0:1.0	.	72	Q9UKU9	ANGL2_HUMAN	S	72	ENSP00000362524:N72S	ENSP00000362524:N72S	N	-	2	0	ANGPTL2	128910617	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.260000	0.72502	1.796000	0.52611	0.482000	0.46254	AAC	ANGPTL2	-	NULL	ENSG00000136859		0.572	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL2	HGNC	protein_coding	OTTHUMT00000054129.1	-	0	31	0	T	NM_012098		129870796	-1	tier1	-	no_errors	ENST00000373425	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	C	C	129870796	T	C	129870796	3	2	87	1	0	0	0	0	1	0	0	0	614	1725	60	4	1282	4	ANGPTL2	9	129870796	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1880531	129870796	11342635	993	24117											
FAM129B	64855	genome.wustl.edu	37	chr9	130269287	130269287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggggtgaggcaggcGgcgaggaggcctcgggggcg	5	3	25	8	4	0	1	0	1	0	0	1	4	0	3	1	10	0	2	1	10	0	0	rs368592407		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:130269287G>A	ENST00000373312.3	-	14	2291	c.2078C>T	c.(2077-2079)cCg>cTg	p.P693L	FAM129B_ENST00000373314.3_Missense_Mutation_p.P680L|FAM129B_ENST00000468379.1_5'Flank	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	693					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGAGGCAGGCGGCGAGGAGGC	0.731																																																	0								G	LEU/PRO,LEU/PRO	0,4392		0,0,2196	13	15	15		2039,2078	4	0.1	9		15	1,8583		0,1,4291	no	missense,missense	FAM129B	NM_001035534.1,NM_022833.2	98,98	0,1,6487	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	680/734,693/747	130269287	1,12975	2196	4292	6488	SO:0001583	missense	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"chromosome 9 open reading frame 88"	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.2078C>T	9.37:g.130269287G>A	ENSP00000362409:p.Pro693Leu		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.P693L	ENST00000373312.3	37	c.2078	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	G	9.605	1.129833	0.21041	0.0	1.16E-4	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.24350	1.86;1.86	4.89	3.99	0.46301	.	0.361451	0.26010	N	0.026898	T	0.24353	0.0590	L	0.54323	1.7	0.09310	N	0.999991	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.20571	-1.0271	10	0.62326	D	0.03	-10.6696	9.4806	0.38898	0.0996:0.0:0.9004:0.0	.	680;693	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	L	680;343;693	ENSP00000362411:P680L;ENSP00000362409:P693L	ENSP00000362409:P693L	P	-	2	0	FAM129B	129309108	0.053000	0.20554	0.054000	0.19295	0.531000	0.34715	1.085000	0.30840	1.052000	0.40392	0.561000	0.74099	CCG	FAM129B	-	NULL	ENSG00000136830		0.731	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1	-	0	21	0	G	NM_022833		130269287	-1	tier1	-	no_errors	ENST00000373312	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.034	A	A	130269287	G	A	130269287	3	1	87	1	0	0	0	0	1	0	0	0	5456	1116	39	1	166	1	FAM129B	9	130269287	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	398491	130269287	10944144	994	24118											
SLC25A25	114789	genome.wustl.edu	37	chr9	130854349	130854349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgctggtggttggacCtgcagagcagtttcctaagg	7	13	13	8	0	0	1	0	0	0	1	1	2	1	2	2	4	3	5	2	4	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:130854349C>A	ENST00000373066.5	+	1	607	c.200C>A	c.(199-201)cCt>cAt	p.P67H	SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000432073.2_Missense_Mutation_p.P67H|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000373069.5_Intron	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	114	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GTGGTTGGACCTGCAGAGCAG	0.542																																																	0													82	84	83					9																	130854349		1901	4129	6030	SO:0001583	missense	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373066.5:c.200C>A	9.37:g.130854349C>A	ENSP00000362157:p.Pro67His		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.P67H	ENST00000373066.5	37	c.200	CCDS59146.1	9	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987086	0.74589	.	.	ENSG00000148339	ENST00000432073;ENST00000373066	T;T	0.81415	0.48;-1.49	5.93	5.93	0.95920	.	.	.	.	.	D	0.84741	0.5539	.	.	.	0.80722	D	1	P;P	0.48089	0.905;0.905	P;P	0.49708	0.62;0.62	D	0.85941	0.1458	8	0.72032	D	0.01	.	17.4997	0.87727	0.0:1.0:0.0:0.0	.	67;67	Q6KCM7-5;Q6KCM7-4	.;.	H	67	ENSP00000410053:P67H;ENSP00000362157:P67H	ENSP00000362157:P67H	P	+	2	0	SLC25A25	129894170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.770000	0.62309	2.815000	0.96918	0.561000	0.74099	CCT	SLC25A25	-	NULL	ENSG00000148339		0.542	SLC25A25-001	KNOWN	basic|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054406.1	-	0	68	0	C	NM_052901		130854349	1	tier1	-	no_errors	ENST00000373066	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	A	A	130854349	C	A	130854349	3	1	87	1	0	0	0	0	1	0	0	0	14533	681	24	3	467	3	SLC25A25	9	130854349	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	585062	130854349	10359082	995	24119											
CIZ1	25792	genome.wustl.edu	37	chr9	130928677	130928677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggggttcttggccgcCttgtatttctggatacagaa	6	13	14	8	1	2	1	0	0	2	1	2	2	2	2	2	5	1	3	2	5	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:130928677C>A	ENST00000393608.1	-	17	2698	c.2496G>T	c.(2494-2496)aaG>aaT	p.K832N	CIZ1_ENST00000372948.3_Missense_Mutation_p.K776N|CIZ1_ENST00000277465.4_Missense_Mutation_p.K804N|CIZ1_ENST00000325721.8_Missense_Mutation_p.K803N|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000372954.1_Missense_Mutation_p.K752N|CIZ1_ENST00000372938.5_Missense_Mutation_p.K832N|CIZ1_ENST00000538431.1_Missense_Mutation_p.K858N|CIZ1_ENST00000357558.5_Missense_Mutation_p.K804N|CIZ1_ENST00000541172.1_Missense_Mutation_p.K731N	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	832					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TCTTGGCCGCCTTGTATTTCT	0.622																																																	0													54	58	57					9																	130928677		2155	4222	6377	SO:0001583	missense	0			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2496G>T	9.37:g.130928677C>A	ENSP00000377232:p.Lys832Asn		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.K858N	ENST00000393608.1	37	c.2574	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	13.85	2.358980	0.41801	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.45	3.34	0.38264	.	0.112315	0.40554	N	0.001066	T	0.75664	0.3880	L	0.36672	1.1	0.36557	D	0.87218	D;P;P;D;P;P;B	0.71674	0.988;0.714;0.811;0.998;0.714;0.473;0.404	D;B;P;D;B;B;B	0.80764	0.958;0.404;0.554;0.994;0.351;0.188;0.204	T	0.77011	-0.2746	10	0.46703	T	0.11	-35.2843	5.8667	0.18779	0.0:0.8068:0.0:0.1932	.	858;771;776;752;832;803;804	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	N	752;832;858;804;803;771;731;804;776;832;754	ENSP00000362045:K752N;ENSP00000377232:K832N;ENSP00000439244:K858N;ENSP00000350169:K804N;ENSP00000320374:K803N;ENSP00000445057:K731N;ENSP00000277465:K804N;ENSP00000362039:K776N;ENSP00000362029:K832N;ENSP00000398011:K754N	ENSP00000277465:K804N	K	-	3	2	CIZ1	129968498	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	0.735000	0.26115	1.121000	0.41925	0.561000	0.74099	AAG	CIZ1	-	NULL	ENSG00000148337		0.622	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	-	0	159	0	C	NM_012127		130928677	-1	tier1	-	no_errors	ENST00000538431	ensembl	human	known	74_37	missense	16.67	120	24	SNP	1.000	A	A	130928677	C	A	130928677	3	1	87	1	0	0	0	0	1	0	0	0	3448	680	24	3	204	3	CIZ1	9	130928677	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	74328	130928677	10284754	996	24120											
FNBP1	23048	genome.wustl.edu	37	chr9	132720823	132720823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgtgctttacggccatCgtgaaagttctgcaaagggg	8	11	13	9	2	1	1	0	1	1	0	2	1	1	1	1	3	4	4	1	3	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:132720823C>T	ENST00000446176.2	-	5	541	c.355G>A	c.(355-357)Gat>Aat	p.D119N	FNBP1_ENST00000420781.1_Missense_Mutation_p.D119N|FNBP1_ENST00000355681.3_Missense_Mutation_p.D119N	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	119	F-BAR domain.|Interaction with microtubules. {ECO:0000250}.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTACGGCCATCGTGAAAGTTC	0.418			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													81	79	80					9																	132720823		1916	4136	6052	SO:0001583	missense	0			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.355G>A	9.37:g.132720823C>T	ENSP00000413625:p.Asp119Asn		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.D119N	ENST00000446176.2	37	c.355	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286938	0.80803	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.17854	2.25;2.25;2.25	5.58	5.58	0.84498	.	0.184336	0.56097	D	0.000022	T	0.31071	0.0785	M	0.63843	1.955	0.80722	D	1	P;P;P;P;P;P;B	0.48162	0.669;0.849;0.527;0.905;0.849;0.906;0.132	B;B;B;B;P;B;B	0.49528	0.076;0.203;0.078;0.369;0.614;0.369;0.017	T	0.01951	-1.1241	10	0.87932	D	0	-12.8313	18.1388	0.89631	0.0:1.0:0.0:0.0	.	119;119;119;119;80;119;119	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	N	119	ENSP00000413625:D119N;ENSP00000407548:D119N;ENSP00000347907:D119N	ENSP00000347907:D119N	D	-	1	0	FNBP1	131760644	1.000000	0.71417	0.283000	0.24790	0.827000	0.46813	7.182000	0.77689	2.630000	0.89119	0.491000	0.48974	GAT	FNBP1	-	superfamily_Ribosomal_S20	ENSG00000187239		0.418	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	-	0	48	0	C			132720823	-1	tier1	-	no_errors	ENST00000446176	ensembl	human	known	74_37	missense	14.06	55	9	SNP	1.000	T	T	132720823	C	T	132720823	3	4	87	1	0	0	0	0	1	0	0	0	5987	884	31	1	1550	1	FNBP1	9	132720823	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1792146	132720823	8492608	997	24121											
PPAPDC3	84814	genome.wustl.edu	37	chr9	134183419	134183419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctcaccatggacatctaCgccttcccggccgggcacgc	7	7	9	18	4	2	0	1	0	1	0	3	1	3	1	5	3	2	1	5	3	2	3	rs139765954		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:134183419C>T	ENST00000372264.3	+	2	865	c.561C>T	c.(559-561)taC>taT	p.Y187Y		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	187					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TGGACATCTACGCCTTCCCGG	0.672																																																	0								C		3,4403	6.2+/-15.9	0,3,2200	59	51	54		561	1.7	1	9	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	PPAPDC3	NM_032728.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		187/272	134183419	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 67"	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.561C>T	9.37:g.134183419C>T			Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.Y187	ENST00000372264.3	37	c.561	CCDS6942.1	9																																																																																			PPAPDC3	-	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	ENSG00000160539		0.672	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAPDC3	HGNC	protein_coding	OTTHUMT00000054724.1	-	0	56	0	C	NM_032728		134183419	1	tier1	rs139765954	no_errors	ENST00000372264	ensembl	human	known	74_37	silent	13.33	52	8	SNP	1.000	T	T	134183419	C	T	134183419	2	4	87	1	0	0	0	0	0	0	0	1	12335	547	19	1		1	PPAPDC3	9	134183419	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1462596	134183419	7030012	998	24122											
BAT2L1	84726	genome.wustl.edu	37	chr9	134319642	134319642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgctgaaagcagctggaggGcaggacaaggctggcaaaga	14	3	16	8	1	0	2	0	1	0	1	0	4	0	4	0	5	2	6	0	5	3	0	rs370981276		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:134319642G>A	ENST00000357304.4	+	5	595	c.540G>A	c.(538-540)ggG>ggA	p.G180G	PRRC2B_ENST00000458550.1_Silent_p.G180G|PRRC2B_ENST00000405995.1_Silent_p.G180G|PRRC2B_ENST00000372249.1_5'Flank	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	180							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGCTGGAGGGCAGGACAAGG	0.562																																																	0								G		0,4026		0,0,2013	54	56	55		540	4.6	1	9		55	3,8373		0,3,4185	no	coding-synonymous	PRRC2B	NM_013318.3		0,3,6198	AA,AG,GG		0.0358,0.0,0.0242		180/2230	134319642	3,12399	2013	4188	6201	SO:0001819	synonymous_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.540G>A	9.37:g.134319642G>A			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	pfam_BAT2_N	p.G180	ENST00000357304.4	37	c.540	CCDS48044.1	9																																																																																			PRRC2B	-	pfam_BAT2_N	ENSG00000130723		0.562	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0	65	0	G			134319642	1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	silent	26.92	38	14	SNP	1.000	A	A	134319642	G	A	134319642	2	1	87	1	0	0	0	0	0	0	0	1	1321	1190	42	3		3	BAT2L1	9	134319642	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	136223	134319642	6893789	999	24123											
RAPGEF1	2889	genome.wustl.edu	37	chr9	134501680	134501680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcagctggaaaggagggCcaagaaatggagacccagac	15	2	16	8	0	0	3	0	0	0	3	0	7	0	5	2	5	1	2	2	5	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:134501680C>T	ENST00000372189.3	-	10	1403	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D	RAPGEF1_ENST00000372195.1_Missense_Mutation_p.G444D|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.G445D|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	427					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAAAGGAGGGCCAAGAAATGG	0.612																																																	0													34	39	38					9																	134501680		1941	4137	6078	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1280G>A	9.37:g.134501680C>T	ENSP00000361263:p.Gly427Asp		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G445D	ENST00000372189.3	37	c.1334	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648724	0.67358	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.42131	0.98;0.98;0.98	4.8	4.8	0.61643	.	0.872335	0.10315	N	0.689477	T	0.49898	0.1584	L	0.60455	1.87	0.38360	D	0.944592	P;P;D	0.52996	0.927;0.927;0.957	B;B;P	0.46049	0.424;0.305;0.502	T	0.58651	-0.7599	10	0.62326	D	0.03	.	17.238	0.87005	0.0:1.0:0.0:0.0	.	444;427;445	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	D	427;444;321;427;445;407;353;122;444	ENSP00000361269:G444D;ENSP00000361263:G427D;ENSP00000361264:G445D	ENSP00000266110:G427D	G	-	2	0	RAPGEF1	133491501	1.000000	0.71417	0.962000	0.40283	0.639000	0.38242	3.883000	0.56168	2.376000	0.81061	0.655000	0.94253	GGC	RAPGEF1	-	NULL	ENSG00000107263		0.612	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	-	0	64	0	C	NM_005312		134501680	-1	tier1	-	no_errors	ENST00000372190	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	T	T	134501680	C	T	134501680	3	4	87	1	0	0	0	0	1	0	0	0	13088	739	26	3	2013	3	RAPGEF1	9	134501680	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	182038	134501680	6711751	1000	24124											
TSC1	7248	genome.wustl.edu	37	chr9	135779172	135779172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaaagcaactggtctcGgagggtgcggatctcatctg	10	9	13	9	2	3	0	1	0	3	0	5	2	3	2	0	4	3	2	0	4	3	1	rs118203630|rs118203631		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:135779172G>A	ENST00000298552.3	-	17	2295	c.2074C>T	c.(2074-2076)Cga>Tga	p.R692*	TSC1_ENST00000440111.2_Nonsense_Mutation_p.R692*|TSC1_ENST00000545250.1_Nonsense_Mutation_p.R641*	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	692					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AACTGGTCTCGGAGGGTGCGG	0.532			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"E, O"	1	Unknown(1)	bone(1)	GRCh37	CM971520|CX024084	TSC1	M|X	rs118203630						82	81	81					9																	135779172		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2074C>T	9.37:g.135779172G>A	ENSP00000298552:p.Arg692*		B7Z897|Q5VVN5	Nonsense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.R692*	ENST00000298552.3	37	c.2074	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	G	41	8.960674	0.99018	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	.	.	.	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4475	10.0003	0.41924	0.0749:0.0:0.7896:0.1355	.	.	.	.	X	692;692;641	.	ENSP00000298552:R692X	R	-	1	2	TSC1	134768993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.034000	0.57289	2.496000	0.84212	0.557000	0.71058	CGA	TSC1	-	pfam_Hamartin	ENSG00000165699		0.532	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0	31	0	G			135779172	-1	tier1	rs118203631	no_errors	ENST00000298552	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	A	A	135779172	G	A	135779172	4	1	87	1	0	0	0	0	0	1	0	0	16653	1124	39	1	1448	1	TSC1	9	135779172	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1277492	135779172	5434259	1001	24125											
KIAA0649	9858	genome.wustl.edu	37	chr9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-																															cacacgcagccagagggccaGgggggtcccacatctggccg																								rs577235079		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:138379043delG	ENST00000356818.2	+	4	3236	c.2687delG	c.(2686-2688)aggfs	p.R896fs	PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R896fs	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	896					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGAGGGCCAGGGGGGTCCCA	0.701																																																	0													28	36	33					9																	138379043		2103	4123	6226	SO:0001589	frameshift_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2687delG	9.37:g.138379043delG	ENSP00000349274:p.Arg896fs		Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	NULL	p.V898fs	ENST00000356818.2	37	c.2687	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.701	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1		0	67	0	G	NM_014811		138379043	1	tier1		no_errors	ENST00000356818	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	0.002	-	-	138379043	G	-	138379043	7	5	87	1	0	1	0	1	0	0	0	0	8214	1000	35	0	2689	0	KIAA0649	9	138379043	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	2599871	138379043	2834388	1002	24126											
CAMSAP1	157922	genome.wustl.edu	37	chr9	138710463	138710463	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcctcagctttgcgcCtgagagaaacacacgcccag	9	8	10	14	2	2	2	1	1	1	1	3	3	3	2	3	1	3	1	3	1	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:138710463C>A	ENST00000389532.4	-	13	4024		c.e13-1		CAMSAP1_ENST00000483991.1_Splice_Site|CAMSAP1_ENST00000312405.6_Splice_Site|CAMSAP1_ENST00000409386.3_Splice_Site	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1						cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCTTTGCGCCTGAGAGAAAC	0.652																																																	0													42	38	39					9																	138710463		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3960-1G>T	9.37:g.138710463C>A			A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Splice_Site	SNP	-	e14-1	ENST00000389532.4	37	c.3993-1	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679942	0.68042	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6358	0.91378	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAMSAP1	137850284	1.000000	0.71417	0.992000	0.48379	0.677000	0.39632	7.706000	0.84615	2.386000	0.81285	0.655000	0.94253	.	CAMSAP1	-	-	ENSG00000130559		0.652	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	-	0	41	0	C	XM_351857	Intron	138710463	-1	tier1	-	no_errors	ENST00000409386	ensembl	human	known	74_37	splice_site	20.69	23	6	SNP	1.000	A	A	138710463	C	A	138710463	5	1	87	1	0	0	0	0	0	0	1	0	2618	695	24	3	869	3	CAMSAP1	9	138710463	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	331420	138710463	2502968	1003	24127											
LCN10	414332	genome.wustl.edu	37	chr9	139636343	139636343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccactcaccgtctgaaggCgaggagcacgcggagctggc	8	4	15	14	4	2	1	1	1	1	0	2	4	2	3	2	4	2	2	2	4	1	0	rs149777062		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:139636343C>T	ENST00000474369.1	-	2	246	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	LCN6_ENST00000480584.1_5'UTR|LCN10_ENST00000527229.1_Missense_Mutation_p.A83T|LCN10_ENST00000497771.1_Missense_Mutation_p.A83T|LCN6_ENST00000471509.1_5'Flank|LCN6_ENST00000435202.1_3'UTR			Q6JVE6	LCN10_HUMAN	lipocalin 10	83					transport (GO:0006810)	extracellular region (GO:0005576)				breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		CGTCTGAAGGCGAGGAGCACG	0.657																																																	0									THR/ALA	0,4404		0,0,2202	46	40	42		247	2	0	9	dbSNP_134	42	3,8593		0,3,4295	no	missense	LCN10	NM_001001712.2	58	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging	83/201	139636343	3,12997	2202	4298	6500	SO:0001583	missense	0			AY301271	CCDS35182.2	9q34.3	2011-10-24			ENSG00000187922	ENSG00000187922		"Lipocalins"	20892	protein-coding gene	gene with protein product		612904				15363845	Standard	NM_001001712		Approved		uc004civ.3	Q6JVE6	OTTHUMG00000150428	ENST00000474369.1:c.247G>A	9.37:g.139636343C>T	ENSP00000420564:p.Ala83Thr		A2RUU3|B0QZ79	Missense_Mutation	SNP	superfamily_Calycin-like	p.A83T	ENST00000474369.1	37	c.247	CCDS35182.2	9	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533457	0.64972	0.0	3.49E-4	ENSG00000187922	ENST00000527229;ENST00000497771;ENST00000474369	T;T;T	0.10573	2.86;2.86;2.86	4.07	1.99	0.26369	Calycin-like (1);Calycin (1);	0.274054	0.26156	N	0.026013	T	0.06462	0.0166	.	.	.	0.09310	N	1	P;P;P	0.50272	0.874;0.933;0.874	B;B;B	0.36885	0.141;0.235;0.141	T	0.33929	-0.9849	9	0.62326	D	0.03	-2.5732	4.7488	0.13050	0.0:0.6511:0.2252:0.1237	.	83;83;83	E9PK15;Q6JVE6;Q6JVE6-2	.;LCN10_HUMAN;.	T	83	ENSP00000431726:A83T;ENSP00000418491:A83T;ENSP00000420564:A83T	ENSP00000435948:A83T	A	-	1	0	LCN10	138756164	0.001000	0.12720	0.008000	0.14137	0.039000	0.13416	0.705000	0.25675	1.020000	0.39573	0.552000	0.68991	GCC	LCN10	-	superfamily_Calycin-like	ENSG00000187922		0.657	LCN10-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LCN10	HGNC	protein_coding	OTTHUMT00000318062.2		0	71	0	C	NM_001001712		139636343	-1			no_errors	ENST00000497771	ensembl	human	known	74_37	missense	9.84	54	6	SNP	0.003	T	T	139636343	C	T	139636343	3	4	87	1	0	0	0	0	1	0	0	0	8709	768	27	1	375	1	LCN10	9	139636343	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	925880	139636343	1577088	1004	24128											
NDOR1	27158	genome.wustl.edu	37	chr9	140110190	140110190	+	Frame_Shift_Del	DEL	G	G	-																															gacacacctgtgatcatggtGgggcctggcactggggtagc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140110190delG	ENST00000344894.5	+	11	1451	c.1368delG	c.(1366-1368)gtgfs	p.V456fs	NDOR1_ENST00000458322.2_Frame_Shift_Del_p.V449fs|NDOR1_ENST00000427047.2_Frame_Shift_Del_p.V422fs|NDOR1_ENST00000371521.4_Frame_Shift_Del_p.V456fs	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGATCATGGTGGGGCCTGGCA	0.667																																																	0													39	44	42					9																	140110190		2202	4300	6502	SO:0001589	frameshift_variant	0			BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"NADPH dependent FMN and FAD containing oxidoreductase"	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1368delG	9.37:g.140110190delG	ENSP00000343344:p.Val456fs			Frame_Shift_Del	DEL	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.P458fs	ENST00000344894.5	37	c.1368	CCDS7036.1	9																																																																																			NDOR1	-	pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000188566		0.667	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDOR1	HGNC	protein_coding	OTTHUMT00000254704.1		0	88	0	G	NM_014434		140110190	1	tier1		no_errors	ENST00000371521	ensembl	human	known	74_37	frame_shift_del	20.00	64	16	DEL	1.000	-	-	140110190	G	-	140110190	7	5	87	1	0	1	0	1	0	0	0	0	10288	1335	47	0	1410	0	NDOR1	9	140110190	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	473847	140110190	1103241	1005	24129											
C9orf173	25920	genome.wustl.edu	37	chr9	140147122	140147122	+	5'Flank	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccctcgcagtggccctcGccagcccactaccagctgct	6	6	8	21	2	0	0	0	0	0	0	2	0	0	0	6	1	4	3	6	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140147122G>A	ENST00000343053.4	+	0	0				C9orf173_ENST00000412566.1_Silent_p.S167S|C9orf173_ENST00000388931.3_Silent_p.S167S	NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											AGTGGCCCTCGCCAGCCCACT	0.701																																																	0													4	5	5					9																	140147122		1858	3970	5828	SO:0001631	upstream_gene_variant	0			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778		9.37:g.140147122G>A	Exception_encountered		A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Silent	SNP	NULL	p.S167	ENST00000343053.4	37	c.501	CCDS7040.1	9																																																																																			C9orf173	-	NULL	ENSG00000197768		0.701	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf173	HGNC	protein_coding	OTTHUMT00000254710.1		0	13	0	G	NM_015456		140147122	1			no_errors	ENST00000388931	ensembl	human	known	74_37	silent	38.46	8	5	SNP	0.071	A	A	140147122	G	A	140147122	1	1	87	0	1	0	0	0	0	0	0	0	2479	1074	38	1		1	C9orf173	9	140147122	5'Flank	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	36932	140147122	1066309	1006	24130											
COBRA1	25920	genome.wustl.edu	37	chr9	140166584	140166584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttcctccacctgctcaCgggcaaccttgcgctgctgg	5	10	9	17	2	2	0	1	0	1	0	4	0	4	0	4	2	4	4	4	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140166584C>T	ENST00000343053.4	+	11	1734	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	466					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T466M(2)									CACCTGCTCACGGGCAACCTT	0.617																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											175	139	151					9																	140166584		2203	4300	6503	SO:0001583	missense	0			AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"cofactor of BRCA1"	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.1397C>T	9.37:g.140166584C>T	ENSP00000339495:p.Thr466Met		A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	pfam_COBRA1	p.T466M	ENST00000343053.4	37	c.1397	CCDS7040.1	9	.	.	.	.	.	.	.	.	.	.	c	11.71	1.719744	0.30503	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.76	2.82	0.32997	.	0.147632	0.64402	N	0.000010	T	0.41213	0.1149	L	0.31294	0.92	0.44380	D	0.997283	B	0.19445	0.036	B	0.19148	0.024	T	0.28586	-1.0039	9	0.48119	T	0.1	-24.2188	7.2495	0.26142	0.0:0.7801:0.0:0.2199	.	466	Q8WX92	NELFB_HUMAN	M	466	.	ENSP00000339495:T466M	T	+	2	0	COBRA1	139286405	0.746000	0.28272	0.832000	0.32986	0.485000	0.33311	1.437000	0.34991	0.937000	0.37394	0.479000	0.44913	ACG	NELFB	-	pfam_COBRA1	ENSG00000188986		0.617	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELFB	HGNC	protein_coding	OTTHUMT00000254710.1	-	0	58	0	C	NM_015456		140166584	1	tier1	-	no_errors	ENST00000343053	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.962	T	T	140166584	C	T	140166584	3	4	87	1	0	0	0	0	1	0	0	0	3662	536	19	1	1439	1	COBRA1	9	140166584	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	19462	140166584	1046847	1007	24131											
NRARP	441478	genome.wustl.edu	37	chr9	140196214	140196214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcgatgaccgactggTgcagcgccgtctggccctcg	4	8	14	15	6	1	1	0	1	1	0	3	3	1	1	4	2	3	1	4	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140196214T>C	ENST00000356628.2	-	1	489	c.167A>G	c.(166-168)cAc>cGc	p.H56R		NM_001004354.2	NP_001004354.1	Q7Z6K4	NRARP_HUMAN	NOTCH-regulated ankyrin repeat protein	56					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of Notch signaling pathway involved in somitogenesis (GO:1902367)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|patterning of blood vessels (GO:0001569)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of cell-cell adhesion (GO:0022407)|somite rostral/caudal axis specification (GO:0032525)					lung(3)	3	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.185)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000273)		GACCGACTGGTGCAGCGCCGT	0.657																																																	0													46	36	40					9																	140196214		2202	4298	6500	SO:0001583	missense	0				CCDS35188.1	9q34.3	2013-01-10			ENSG00000198435	ENSG00000198435		"Ankyrin repeat domain containing"	33843	protein-coding gene	gene with protein product							Standard	NM_001004354		Approved	MGC61598	uc004cmo.2	Q7Z6K4	OTTHUMG00000156150	ENST00000356628.2:c.167A>G	9.37:g.140196214T>C	ENSP00000349041:p.His56Arg		B8A4K5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.H56R	ENST00000356628.2	37	c.167	CCDS35188.1	9	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145047	0.57044	.	.	ENSG00000198435	ENST00000356628	T	0.71341	-0.56	3.57	3.57	0.40892	Ankyrin repeat-containing domain (4);	0.000000	0.85682	U	0.000000	D	0.82595	0.5071	H	0.95260	3.645	0.53005	D	0.999969	P	0.52061	0.95	P	0.51516	0.672	D	0.85881	0.1422	10	0.56958	D	0.05	.	10.1757	0.42937	0.0:0.0:0.0:1.0	.	56	Q7Z6K4	NRARP_HUMAN	R	56	ENSP00000349041:H56R	ENSP00000349041:H56R	H	-	2	0	NRARP	139316035	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	1.364000	0.34171	1.517000	0.48917	0.439000	0.28862	CAC	NRARP	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198435		0.657	NRARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRARP	HGNC	protein_coding	OTTHUMT00000343196.1	-	0	40	0	T	NM_001004354		140196214	-1	tier1	-	no_errors	ENST00000356628	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	C	C	140196214	T	C	140196214	3	2	87	1	0	0	0	0	1	0	0	0	10678	1696	59	4	181	4	NRARP	9	140196214	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	29630	140196214	1017217	1008	24132											
EHMT1	79813	genome.wustl.edu	37	chr9	140707552	140707552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactctcaggtgtggagcGctctgcagatgagcaaggct	9	9	13	10	1	3	2	2	1	2	1	4	3	3	3	0	3	4	4	0	3	2	0	rs565543981		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr9:140707552G>A	ENST00000460843.1	+	20	2989	c.2962G>A	c.(2962-2964)Gct>Act	p.A988T		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	988					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGTGTGGAGCGCTCTGCAGAT	0.587													G|||	1	0.000199681	8e-04	0	5008	,	,		18529	0		0	False		,,,				2504	0																0													54	62	59					9																	140707552		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2962G>A	9.37:g.140707552G>A	ENSP00000417980:p.Ala988Thr		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A988T	ENST00000460843.1	37	c.2962	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919579	0.52653	.	.	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.71461	-0.57	4.99	4.08	0.47627	.	0.215304	0.48767	D	0.000172	T	0.63628	0.2527	L	0.52011	1.625	0.80722	D	1	B	0.31383	0.321	B	0.29524	0.103	T	0.67317	-0.5701	10	0.54805	T	0.06	.	12.7466	0.57285	0.0792:0.0:0.9208:0.0	.	988	Q9H9B1	EHMT1_HUMAN	T	957;988	ENSP00000417980:A988T	ENSP00000360453:A957T	A	+	1	0	EHMT1	139827373	1.000000	0.71417	0.600000	0.28864	0.715000	0.41141	5.328000	0.65887	2.292000	0.77174	0.655000	0.94253	GCT	EHMT1	-	smart_Ankyrin_rpt	ENSG00000181090		0.587	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0	70	0	G	NM_024757		140707552	1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	23.08	59	18	SNP	0.825	A	A	140707552	G	A	140707552	3	1	87	1	0	0	0	0	1	0	0	0	4997	1087	38	1	3089	1	EHMT1	9	140707552	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	511338	140707552	505879	1009	24133											
LARP4B	23185	genome.wustl.edu	37	chr10	875405	875405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagggggaactgctgctgggGgctgtacatgggagggaagt	8	7	20	6	0	0	0	0	0	0	0	0	3	0	3	0	6	4	4	0	6	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:875405G>T	ENST00000316157.3	-	10	1085	c.1045C>A	c.(1045-1047)Ccc>Acc	p.P349T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	349					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGCTGCTGGGGGCTGTACATG	0.537																																																	0													70	60	63					10																	875405		2203	4300	6503	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1045C>A	10.37:g.875405G>T	ENSP00000326128:p.Pro349Thr		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.P349T	ENST00000316157.3	37	c.1045	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750235	0.89753	.	.	ENSG00000107929	ENST00000316157	T	0.39056	1.1	5.4	5.4	0.78164	.	0.047074	0.85682	D	0.000000	T	0.61438	0.2347	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.61322	-0.7086	10	0.59425	D	0.04	-0.2343	19.5504	0.95315	0.0:0.0:1.0:0.0	.	349	Q92615	LAR4B_HUMAN	T	349	ENSP00000326128:P349T	ENSP00000326128:P349T	P	-	1	0	LARP4B	865405	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.279000	0.72620	2.688000	0.91661	0.655000	0.94253	CCC	LARP4B	-	NULL	ENSG00000107929		0.537	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	-	0	39	0	G	NM_015155		875405	-1	tier1	-	no_errors	ENST00000316157	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T	T	875405	G	T	875405	3	4	87	1	0	0	0	0	1	0	0	0	8659	1232	43	3	1203	3	LARP4B	10	875405	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		875405	134659342	1010	24134											
LARP4B	23185	genome.wustl.edu	37	chr10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-																															agataagcagaattccaatgTttttttaagtacttctcggg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:890939delT	ENST00000316157.3	-	5	527	c.487delA	c.(487-489)acafs	p.T163fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	163	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATTCCAATGTTTTTTTAAGT	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											127	120	122					10																	890939		2203	4300	6503	SO:0001589	frameshift_variant	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.487delA	10.37:g.890939delT	ENSP00000326128:p.Thr163fs		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Frame_Shift_Del	DEL	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.T163fs	ENST00000316157.3	37	c.487	CCDS31131.1	10																																																																																			LARP4B	-	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	ENSG00000107929		0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2		0	36	0	T	NM_015155		890939	-1			no_errors	ENST00000316157	ensembl	human	known	74_37	frame_shift_del	16.28	36	7	DEL	1.000	0	-	890939	T	-	890939	7	5	87	1	0	1	0	1	0	0	0	0	8659	1725	60	0	1781	0	LARP4B	10	890939	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	15534	890939	134643808	1011	24135											
IDI2	91734	genome.wustl.edu	37	chr10	1070564	1070564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggcaattcctcttggtgtCggcaccaataaccttatcat	10	13	7	11	1	2	0	1	0	1	0	4	0	3	0	3	3	1	2	3	3	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:1070564C>T	ENST00000277517.1	-	2	164	c.100G>A	c.(100-102)Gac>Aac	p.D34N	IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	34					cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTCTTGGTGTCGGCACCAATA	0.478																																																	0													141	118	126					10																	1070564		2203	4300	6503	SO:0001583	missense	0			AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.100G>A	10.37:g.1070564C>T	ENSP00000277517:p.Asp34Asn			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	p.D34N	ENST00000277517.1	37	c.100	CCDS7055.1	10	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282252	0.59867	.	.	ENSG00000148377	ENST00000277517	.	.	.	3.21	1.2	0.21068	NUDIX hydrolase domain-like (1);	0.284913	0.37053	U	0.002275	T	0.51550	0.1681	M	0.83312	2.635	0.49798	D	0.999826	D	0.53462	0.96	B	0.42692	0.395	T	0.52253	-0.8600	9	0.51188	T	0.08	-10.9933	7.058	0.25109	0.0:0.7195:0.175:0.1055	.	34	Q9BXS1	IDI2_HUMAN	N	34	.	ENSP00000277517:D34N	D	-	1	0	IDI2	1060564	0.967000	0.33354	0.001000	0.08648	0.460000	0.32559	2.901000	0.48695	0.192000	0.20272	0.134000	0.15878	GAC	IDI2	-	superfamily_NUDIX_hydrolase_dom-like,pirsf_IsopentenylPP_isomerase_typ1,tigrfam_IsopentenylPP_isomerase_typ1	ENSG00000148377		0.478	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDI2	HGNC	protein_coding	OTTHUMT00000046411.1	-	0	58	0	C	NM_033261		1070564	-1	tier1	-	no_errors	ENST00000277517	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.946	T	T	1070564	C	T	1070564	3	4	87	1	0	0	0	0	1	0	0	0	7527	884	31	1	599	1	IDI2	10	1070564	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	179625	1070564	134464183	1012	24136											
PITRM1	10531	genome.wustl.edu	37	chr10	3181192	3181192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttccagacttagcccAgtcgacagccttcccaaaag	12	9	7	13	1	0	1	0	0	0	1	3	3	2	1	4	0	2	0	4	0	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:3181192A>G	ENST00000224949.4	-	25	2855	c.2821T>C	c.(2821-2823)Tgg>Cgg	p.W941R	PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.W942R|PITRM1_ENST00000380994.1_Missense_Mutation_p.W499R|PITRM1_ENST00000451104.2_Missense_Mutation_p.W843R|PITRM1-AS1_ENST00000598280.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	941					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GACTTAGCCCAGTCGACAGCC	0.468																																																	0													158	158	158					10																	3181192		1906	4113	6019	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2821T>C	10.37:g.3181192A>G	ENSP00000224949:p.Trp941Arg		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.W942R	ENST00000224949.4	37	c.2824	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	a	15.48	2.846801	0.51164	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.54	5.54	0.83059	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.057201	0.85682	D	0.000000	T	0.55401	0.1918	M	0.91196	3.185	0.80722	D	1	P;D;D;D;D;D	0.67145	0.837;0.96;0.996;0.996;0.984;0.996	B;P;D;D;D;D	0.72338	0.35;0.883;0.977;0.977;0.917;0.968	T	0.66803	-0.5831	10	0.87932	D	0	-17.7933	15.6753	0.77311	1.0:0.0:0.0:0.0	.	934;843;942;941;876;934	E9PDX6;E7ES23;C9JSL2;Q5JRX3;E9PDX7;B4DH07	.;.;.;PREP_HUMAN;.;.	R	941;934;942;499;843;122	ENSP00000224949:W941R;ENSP00000370377:W942R;ENSP00000370382:W499R;ENSP00000401201:W843R;ENSP00000399307:W122R	ENSP00000224949:W941R	W	-	1	0	PITRM1	3171192	1.000000	0.71417	0.996000	0.52242	0.007000	0.05969	8.280000	0.89903	2.100000	0.63781	0.379000	0.24179	TGG	PITRM1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.468	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2		0	61	0	A			3181192	-1			no_errors	ENST00000380989	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	G	G	3181192	A	G	3181192	3	3	87	1	0	0	0	0	1	0	0	0	11992	188	7	4	304	4	PITRM1	10	3181192	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2110628	3181192	132353555	1013	24137											
ITIH2	3698	genome.wustl.edu	37	chr10	7763614	7763614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaccgttctttctaggcGcacgtctccttcaagcccac	6	12	7	16	3	5	0	2	0	3	0	6	0	5	0	3	1	1	2	3	1	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:7763614G>A	ENST00000358415.4	+	8	907	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ITIH2_ENST00000379587.4_Silent_p.A236A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	247					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A247A(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTTCTAGGCGCACGTCTCCT	0.577																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											130	117	122					10																	7763614		2203	4300	6503	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.741G>A	10.37:g.7763614G>A			Q14659|Q15484|Q5T986	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.A247	ENST00000358415.4	37	c.741	CCDS31141.1	10																																																																																			ITIH2	-	NULL	ENSG00000151655		0.577	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	-	0	51	0	G	NM_002216		7763614	1	tier1	-	no_errors	ENST00000358415	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.135	A	A	7763614	G	A	7763614	2	1	87	1	0	0	0	0	0	0	0	1	7931	1074	38	1		1	ITIH2	10	7763614	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4582422	7763614	127771133	1014	24138											
GATA3	2625	genome.wustl.edu	37	chr10	8097653	8097653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagccgcgctgggtgaGccaccaccaccccgccgtgc	6	3	13	19	4	0	1	0	1	0	0	0	2	0	2	8	2	3	1	8	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:8097653G>A	ENST00000346208.3	+	2	490	c.35G>A	c.(34-36)aGc>aAc	p.S12N	RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.S12N|GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	12					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGCTGGGTGAGCCACCACCAC	0.761			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													14	13	13					10																	8097653		2147	4179	6326	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.35G>A	10.37:g.8097653G>A	ENSP00000341619:p.Ser12Asn		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.S12N	ENST00000346208.3	37	c.35	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729270	0.69074	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.96334	-3.98;-3.96	4.87	4.87	0.63330	.	0.040808	0.85682	D	0.000000	D	0.96275	0.8785	M	0.72479	2.2	0.45580	D	0.998526	P;P	0.38922	0.651;0.551	B;P	0.44673	0.081;0.457	D	0.95906	0.8919	9	.	.	.	-16.4623	16.9937	0.86361	0.0:0.0:1.0:0.0	.	12;12	P23771;P23771-2	GATA3_HUMAN;.	N	12	ENSP00000368632:S12N;ENSP00000341619:S12N	.	S	+	2	0	GATA3	8137659	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	3.507000	0.53371	2.232000	0.73038	0.561000	0.74099	AGC	GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.761	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	-	0	39	0	G	NM_001002295		8097653	1	tier1	-	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A	A	8097653	G	A	8097653	3	1	87	1	0	0	0	0	1	0	0	0	6280	971	34	3	37	3	GATA3	10	8097653	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	334039	8097653	127437094	1015	24139											
GATA3	2625	genome.wustl.edu	37	chr10	8097679	8097679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaccccgccgtgctcaacGggcagcacccggacacgcac	9	2	10	20	5	1	0	1	0	0	0	1	1	1	1	5	2	3	4	5	2	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:8097679G>A	ENST00000346208.3	+	2	516	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	RP11-379F12.3_ENST00000458727.1_lincRNA|GATA3_ENST00000379328.3_Missense_Mutation_p.G21R|GATA3-AS1_ENST00000355358.1_lincRNA|RP11-379F12.4_ENST00000418270.1_lincRNA			P23771	GATA3_HUMAN	GATA binding protein 3	21					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CGTGCTCAACGGGCAGCACCC	0.701			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													19	17	18					10																	8097679		2179	4254	6433	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"GATA zinc finger domain containing"	4172	protein-coding gene	gene with protein product		131320	"GATA-binding protein 3"			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.61G>A	10.37:g.8097679G>A	ENSP00000341619:p.Gly21Arg		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G21R	ENST00000346208.3	37	c.61	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.714987	0.96830	.	.	ENSG00000107485	ENST00000379328;ENST00000544011;ENST00000346208	D;D	0.96427	-4.01;-3.98	4.72	4.72	0.59763	.	0.157478	0.56097	D	0.000032	D	0.96744	0.8937	M	0.75264	2.295	0.58432	D	0.999999	D;D	0.65815	0.995;0.982	P;P	0.51582	0.593;0.674	D	0.96583	0.9432	9	.	.	.	-18.6317	16.6549	0.85225	0.0:0.0:1.0:0.0	.	21;21	P23771;P23771-2	GATA3_HUMAN;.	R	21	ENSP00000368632:G21R;ENSP00000341619:G21R	.	G	+	1	0	GATA3	8137685	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.537000	0.82033	2.154000	0.67381	0.561000	0.74099	GGG	GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.701	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	-	0	56	0	G	NM_001002295		8097679	1	tier1	-	no_errors	ENST00000379328	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	A	A	8097679	G	A	8097679	3	1	87	1	0	0	0	0	1	0	0	0	6280	1116	39	1	63	1	GATA3	10	8097679	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	26	8097679	127437068	1016	24140											
CUBN	8029	genome.wustl.edu	37	chr10	16878296	16878296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactccagatttgaaaatgAccattgcagtactcatagaa	16	10	6	9	0	1	4	1	2	0	2	2	4	2	4	2	0	3	2	2	0	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:16878296A>G	ENST00000377833.4	-	63	10183	c.10118T>C	c.(10117-10119)gTc>gCc	p.V3373A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3373	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGAAAATGACCATTGCAGT	0.398																																																	0													72	72	72					10																	16878296		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10118T>C	10.37:g.16878296A>G	ENSP00000367064:p.Val3373Ala		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.V3373A	ENST00000377833.4	37	c.10118	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985876	0.74589	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.44482	0.92	5.03	3.9	0.45041	CUB (5);	0.000000	0.34178	N	0.004182	T	0.51126	0.1656	M	0.74881	2.28	0.27271	N	0.958368	D	0.53462	0.96	P	0.51266	0.664	T	0.51252	-0.8729	10	0.87932	D	0	.	9.2513	0.37557	0.9175:0.0:0.0825:0.0	.	3373	O60494	CUBN_HUMAN	A	3373;214	ENSP00000367064:V3373A	ENSP00000367064:V3373A	V	-	2	0	CUBN	16918302	0.387000	0.25188	0.002000	0.10522	0.630000	0.37929	5.340000	0.65958	0.768000	0.33290	0.459000	0.35465	GTC	CUBN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.398	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	62	0	A	NM_001081		16878296	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	19.51	32	8	SNP	0.011	G	G	16878296	A	G	16878296	3	3	87	1	0	0	0	0	1	0	0	0	4060	275	10	4	773	4	CUBN	10	16878296	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	8780617	16878296	118656451	1017	24141											
PTF1A	256297	genome.wustl.edu	37	chr10	23481496	23481496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcacttccccgggggcCtagacgcctttccttcttcg	4	11	11	15	3	1	1	0	0	1	1	4	2	3	2	5	3	1	1	5	3	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:23481496C>A	ENST00000376504.3	+	1	241	c.37C>A	c.(37-39)Cta>Ata	p.L13I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	13					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCCCGGGGGCCTAGACGCCTT	0.637																																																	0													61	57	58					10																	23481496		2203	4300	6503	SO:0001583	missense	0			BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"Basic helix-loop-helix proteins"	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.37C>A	10.37:g.23481496C>A	ENSP00000365687:p.Leu13Ile		Q9HC25	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L13I	ENST00000376504.3	37	c.37	CCDS7143.1	10	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285286	0.59867	.	.	ENSG00000168267	ENST00000376504	D	0.97959	-4.63	2.96	2.96	0.34315	.	0.000000	0.56097	U	0.000027	D	0.97213	0.9089	L	0.29908	0.895	0.36659	D	0.877848	D	0.63880	0.993	D	0.73708	0.981	D	0.99544	1.0964	10	0.87932	D	0	-1.1716	13.6355	0.62221	0.0:1.0:0.0:0.0	.	13	Q7RTS3	PTF1A_HUMAN	I	13	ENSP00000365687:L13I	ENSP00000365687:L13I	L	+	1	2	PTF1A	23521502	0.985000	0.35326	1.000000	0.80357	0.540000	0.34992	2.616000	0.46376	1.490000	0.48466	0.313000	0.20887	CTA	PTF1A	-	NULL	ENSG00000168267		0.637	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTF1A	HGNC	protein_coding	OTTHUMT00000047210.1	-	0	49	0	C	NM_178161		23481496	1	tier1	-	no_errors	ENST00000376504	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	A	A	23481496	C	A	23481496	3	1	87	1	0	0	0	0	1	0	0	0	12782	680	24	3	39	3	PTF1A	10	23481496	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6603200	23481496	112053251	1018	24142											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24889664	24889664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaacaggcattcacagtCggacgtggtgagtcgaaaca	13	7	12	9	3	1	2	1	2	0	0	3	4	1	3	0	3	2	1	0	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:24889664C>T	ENST00000396432.2	-	14	3529	c.3043G>A	c.(3043-3045)Gac>Aac	p.D1015N	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D802N|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1014	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CATTCACAGTCGGACGTGGTG	0.478																																																	0													118	112	114					10																	24889664		2203	4298	6501	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3043G>A	10.37:g.24889664C>T	ENSP00000379709:p.Asp1015Asn		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D1015N	ENST00000396432.2	37	c.3043	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427131	0.83667	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	6.02	6.02	0.97574	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86961	0.6059	L	0.39467	1.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.86018	0.1505	10	0.52906	T	0.07	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	1005;1014	F8W9U9;Q5T5U3	.;RHG21_HUMAN	N	1015;802;1005;1015;850	ENSP00000379709:D1015N;ENSP00000365604:D802N;ENSP00000365592:D1005N;ENSP00000405018:D1015N	ENSP00000365604:D802N	D	-	1	0	ARHGAP21	24929670	1.000000	0.71417	0.892000	0.35008	0.258000	0.26162	7.767000	0.85331	2.865000	0.98341	0.655000	0.94253	GAC	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000107863		0.478	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	61	0	C	NM_020824		24889664	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	24889664	C	T	24889664	3	4	87	1	0	0	0	0	1	0	0	0	871	884	31	1	2885	1	ARHGAP21	10	24889664	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1408168	24889664	110645083	1019	24143											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24889717	24889717	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcactgtaagagatgTctatcaagcaagcattaaca	14	11	8	8	0	3	1	2	0	2	1	4	2	3	1	0	1	3	3	0	1	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:24889717T>A	ENST00000396432.2	-	14	3476	c.2990A>T	c.(2989-2991)gAc>gTc	p.D997V	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.D784V|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	996	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTAAGAGATGTCTATCAAGCA	0.463																																																	0													96	93	94					10																	24889717		2202	4281	6483	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2990A>T	10.37:g.24889717T>A	ENSP00000379709:p.Asp997Val		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D997V	ENST00000396432.2	37	c.2990	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	T	25.6	4.657207	0.88154	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.86381	0.5919	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.998;1.0	D	0.88139	0.2843	10	0.87932	D	0	.	15.907	0.79439	0.0:0.0:0.0:1.0	.	987;996	F8W9U9;Q5T5U3	.;RHG21_HUMAN	V	997;784;987;997;832	ENSP00000379709:D997V;ENSP00000365604:D784V;ENSP00000365592:D987V;ENSP00000405018:D997V	ENSP00000365604:D784V	D	-	2	0	ARHGAP21	24929723	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.164000	0.68074	0.533000	0.62120	GAC	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000107863		0.463	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	60	0	T	NM_020824		24889717	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	21.33	58	16	SNP	1.000	A	A	24889717	T	A	24889717	3	1	87	1	0	0	0	0	1	0	0	0	871	1667	58	5	2938	5	ARHGAP21	10	24889717	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	53	24889717	110645030	1020	24144											
GPR158	57512	genome.wustl.edu	37	chr10	25464743	25464743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggacacactgacacacGccaccaacttcctcaacgtg	11	6	7	17	3	1	1	1	1	0	0	2	2	2	2	3	1	2	1	3	1	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:25464743G>A	ENST00000376351.3	+	1	753	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	132					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACTGACACACGCCACCAACTT	0.652																																																	0													70	71	71					10																	25464743		2203	4300	6503	SO:0001583	missense	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"GPCR / Class C : Orphans"	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.394G>A	10.37:g.25464743G>A	ENSP00000365529:p.Ala132Thr		Q6QR81|Q9ULT3	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.A132T	ENST00000376351.3	37	c.394	CCDS31166.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.107523	0.94292	.	.	ENSG00000151025	ENST00000376351	T	0.78924	-1.22	4.72	4.72	0.59763	.	0.074223	0.51477	D	0.000097	D	0.84880	0.5570	L	0.58583	1.82	0.58432	D	0.999999	D	0.71674	0.998	P	0.62184	0.899	D	0.86345	0.1707	10	0.62326	D	0.03	.	17.8684	0.88803	0.0:0.0:1.0:0.0	.	132	Q5T848	GP158_HUMAN	T	132	ENSP00000365529:A132T	ENSP00000365529:A132T	A	+	1	0	GPR158	25504749	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.408000	0.80041	2.462000	0.83206	0.467000	0.42956	GCC	GPR158	-	NULL	ENSG00000151025		0.652	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2	-	0	68	0	G	XM_166110		25464743	1	tier1	-	no_errors	ENST00000376351	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	A	A	25464743	G	A	25464743	3	1	87	1	0	0	0	0	1	0	0	0	6689	1087	38	1	396	1	GPR158	10	25464743	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	575026	25464743	110070004	1021	24145											
MYO3A	53904	genome.wustl.edu	37	chr10	26455081	26455081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttggaaaaagctggtctcGataactgggctcttggaaaa	12	12	11	6	1	2	0	0	0	2	0	3	3	2	2	0	4	2	2	0	4	5	4	rs56403976		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:26455081G>A	ENST00000265944.5	+	27	3251	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1029	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTGGTCTCGATAACTGGGC	0.403																																																	0													112	120	117					10																	26455081		2203	4300	6503	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3085G>A	10.37:g.26455081G>A	ENSP00000265944:p.Asp1029Asn		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.D1029N	ENST00000265944.5	37	c.3085	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379520	0.82682	.	.	ENSG00000095777	ENST00000265944	T	0.72615	-0.67	6.07	5.16	0.70880	Myosin head, motor domain (2);	0.183467	0.56097	D	0.000021	T	0.71913	0.3396	L	0.51853	1.615	0.80722	D	1	P	0.44690	0.841	P	0.46940	0.532	T	0.75326	-0.3357	10	0.72032	D	0.01	.	15.1232	0.72460	0.0673:0.0:0.9327:0.0	rs56403976	1029	Q8NEV4	MYO3A_HUMAN	N	1029	ENSP00000265944:D1029N	ENSP00000265944:D1029N	D	+	1	0	MYO3A	26495087	1.000000	0.71417	0.948000	0.38648	0.991000	0.79684	6.203000	0.72137	1.575000	0.49775	0.650000	0.86243	GAT	MYO3A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000095777		0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	-	0	66	0	G	NM_017433		26455081	1	tier1	rs56403976	no_errors	ENST00000265944	ensembl	human	known	74_37	missense	33.33	56	28	SNP	1.000	A	A	26455081	G	A	26455081	3	1	87	1	0	0	0	0	1	0	0	0	10114	1058	37	1	3183	1	MYO3A	10	26455081	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	990338	26455081	109079666	1022	24146											
ZNF485	220992	genome.wustl.edu	37	chr10	44111987	44111987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaaagaatgtgggatcGcctttatgaacagttcatcc	13	12	9	7	1	1	2	1	1	0	1	3	3	2	3	2	1	1	2	2	1	6	4	rs369821326		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:44111987G>A	ENST00000361807.3	+	5	690	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	ZNF485_ENST00000374435.3_Missense_Mutation_p.A166T|ZNF485_ENST00000374437.2_Missense_Mutation_p.A75T	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						ATGTGGGATCGCCTTTATGAA	0.398													G|||	1	0.000199681	0	0	5008	,	,		20647	0.001		0	False		,,,				2504	0																0								G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125	120	122		496	0.6	0	10		122	0,8600		0,0,4300	no	missense	ZNF485	NM_145312.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	166/442	44111987	1,13005	2203	4300	6503	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.496G>A	10.37:g.44111987G>A	ENSP00000354694:p.Ala166Thr		B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A166T	ENST00000361807.3	37	c.496	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	G	4.219	0.039416	0.08148	2.27E-4	0.0	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.13778	2.56;2.56;2.56	2.52	0.605	0.17553	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10766	0.0263	N	0.21617	0.685	0.09310	N	1	P	0.52170	0.951	P	0.49085	0.6	T	0.24404	-1.0161	9	0.28530	T	0.3	.	4.9514	0.14015	0.4528:0.0:0.5472:0.0	.	166	Q8NCK3	ZN485_HUMAN	T	166;75;166	ENSP00000354694:A166T;ENSP00000363560:A75T;ENSP00000363558:A166T	ENSP00000354694:A166T	A	+	1	0	ZNF485	43431993	0.000000	0.05858	0.039000	0.18376	0.187000	0.23431	0.430000	0.21428	0.154000	0.19237	0.462000	0.41574	GCC	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.398	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	-	0	52	0	G	NM_145312		44111987	1	tier1	-	no_errors	ENST00000361807	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.008	A	A	44111987	G	A	44111987	3	1	87	1	0	0	0	0	1	0	0	0	17986	1087	38	1	510	1	ZNF485	10	44111987	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	17656906	44111987	91422760	1023	24147											
ANUBL1	93550	genome.wustl.edu	37	chr10	46121407	46121409	+	In_Frame_Del	DEL	CTC	CTC	-																															gaaaatactgaccaaaaaaaCtcctgtatgttctaactggg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:46121407_46121409delCTC	ENST00000344646.5	-	7	2077_2079	c.1862_1864delGAG	c.(1861-1866)ggagtt>gtt	p.G621del	ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_In_Frame_Del_p.G547del|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	621							zinc ion binding (GO:0008270)										ACCAAAAAAACTCCTGTATGTTC	0.374																																																	0																																										SO:0001651	inframe_deletion	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1862_1864delGAG	10.37:g.46121407_46121409delCTC	ENSP00000339484:p.Gly621del		A8K8V4|B2RAX2|Q5VVY5	In_Frame_Del	DEL	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.G621in_frame_del	ENST00000344646.5	37	c.1864_1862	CCDS7214.1	10																																																																																			ZFAND4	-	NULL	ENSG00000172671		0.374	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1		0	47	0	CTC	NM_174890		46121409	-1	tier1		no_errors	ENST00000344646	ensembl	human	known	74_37	in_frame_del	20.45	35	9	DEL	0.020:0.001:0.690	-	-	46121409	CTC	-	46121407	7	5	87	1	0	1	0	1	0	0	0	0	713	565	20	0	335	0	ANUBL1	10	46121407	In_Frame_Del	DEL	CTC	TCGA-L5-A8NM-01A-11D-A37C-09	2009420	46121407	89413340	1024	24148											
ANUBL1	93550	genome.wustl.edu	37	chr10	46143826	46143826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagataacggtgttaaagtgCcatctcccctatctactgca	11	11	7	12	1	2	1	0	0	2	1	3	1	2	1	3	1	4	2	3	1	5	4	rs573366778		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:46143826C>T	ENST00000344646.5	-	5	700	c.485G>A	c.(484-486)gGc>gAc	p.G162D	ZFAND4_ENST00000374371.2_Missense_Mutation_p.G162D|ZFAND4_ENST00000374366.3_Missense_Mutation_p.G88D|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	162							zinc ion binding (GO:0008270)										TGTTAAAGTGCCATCTCCCCT	0.398																																																	0													158	146	150					10																	46143826		2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"Zinc fingers, AN1-type domain containing"	23504	protein-coding gene	gene with protein product			"AN1, ubiquitin-like, homolog (Xenopus laevis)"	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.485G>A	10.37:g.46143826C>T	ENSP00000339484:p.Gly162Asp		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.G162D	ENST00000344646.5	37	c.485	CCDS7214.1	10	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652123	0.88056	.	.	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.62105	0.38;0.05;0.28	5.64	5.64	0.86602	.	0.406249	0.23561	N	0.046854	T	0.76751	0.4031	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76250	-0.3028	10	0.51188	T	0.08	-21.8462	17.1918	0.86881	0.0:1.0:0.0:0.0	.	162;162	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	D	162;162;88;162;44	ENSP00000339484:G162D;ENSP00000363491:G162D;ENSP00000363486:G88D	ENSP00000339484:G162D	G	-	2	0	ANUBL1	45463832	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.255000	0.78338	2.631000	0.89168	0.585000	0.79938	GGC	ZFAND4	-	NULL	ENSG00000172671		0.398	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	-	0	53	0	C	NM_174890		46143826	-1	tier1	-	no_errors	ENST00000344646	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	T	T	46143826	C	T	46143826	3	4	87	1	0	0	0	0	1	0	0	0	713	739	26	3	1722	3	ANUBL1	10	46143826	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	22419	46143826	89390921	1025	24149											
GPRIN2	9721	genome.wustl.edu	37	chr10	47000073	47000073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgtacggagctgcggTggacctggaggtgctcggtg	5	8	21	7	3	0	0	0	0	0	0	1	4	0	4	1	8	4	3	1	8	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:47000073T>C	ENST00000374317.1	+	3	1466	c.1193T>C	c.(1192-1194)gTg>gCg	p.V398A	GPRIN2_ENST00000374314.4_Missense_Mutation_p.V398A	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	398										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GGAGCTGCGGTGGACCTGGAG	0.652																																																	0													160	130	140					10																	47000073		2203	4300	6503	SO:0001583	missense	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"KIAA0514"	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1193T>C	10.37:g.47000073T>C	ENSP00000363436:p.Val398Ala		Q5SVF0	Missense_Mutation	SNP	NULL	p.V398A	ENST00000374317.1	37	c.1193	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349472	0.61183	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.30714	1.52;1.52	4.65	4.65	0.58169	.	0.202748	0.24628	N	0.036910	T	0.43366	0.1244	M	0.71581	2.175	0.49299	D	0.999773	P	0.49961	0.93	P	0.50270	0.636	T	0.46965	-0.9153	10	0.72032	D	0.01	-7.2763	12.3248	0.55005	0.0:0.0:0.0:1.0	.	398	O60269	GRIN2_HUMAN	A	398	ENSP00000363436:V398A;ENSP00000363433:V398A	ENSP00000363433:V398A	V	+	2	0	GPRIN2	46420079	1.000000	0.71417	0.935000	0.37517	0.406000	0.30931	7.927000	0.87577	1.871000	0.54225	0.260000	0.18958	GTG	GPRIN2	-	NULL	ENSG00000204175		0.652	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	-	0	92	0	T	NM_014696		47000073	1	tier1	-	no_errors	ENST00000374314	ensembl	human	known	74_37	missense	6.94	67	5	SNP	1.000	C	C	47000073	T	C	47000073	3	2	87	1	0	0	0	0	1	0	0	0	6757	1696	59	4	1195	4	GPRIN2	10	47000073	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	856247	47000073	88534674	1026	24150											
FRMPD2	143162	genome.wustl.edu	37	chr10	49440276	49440276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacctccaggtgctgcccGttcagcaggaccacacagag	9	8	10	14	1	1	1	1	0	0	1	2	2	2	2	4	2	4	3	4	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:49440276G>A	ENST00000374201.3	-	10	1352	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	350	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTGCTGCCCGTTCAGCAGGA	0.443																																																	0													101	93	95					10																	49440276		2203	4300	6503	SO:0001819	synonymous_variant	0			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"PDZ domain containing 5C"	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1050C>T	10.37:g.49440276G>A			B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Silent	SNP	pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam	p.N350	ENST00000374201.3	37	c.1050	CCDS31195.1	10																																																																																			FRMPD2	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000170324		0.443	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD2	HGNC	protein_coding	OTTHUMT00000047923.3	-	0	36	0	G	NM_152428		49440276	-1	tier1	-	no_errors	ENST00000374201	ensembl	human	known	74_37	silent	28.12	23	9	SNP	0.382	A	A	49440276	G	A	49440276	2	1	87	1	0	0	0	0	0	0	0	1	6082	1136	40	1		1	FRMPD2	10	49440276	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2440203	49440276	86094471	1027	24151											
DRGX	644168	genome.wustl.edu	37	chr10	50594790	50594790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggggcggggagttgaTgtttctcactggaggaggtg	6	9	19	7	1	1	1	1	1	1	0	2	4	1	4	1	7	0	2	1	7	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:50594790T>A	ENST00000374139.2	-	4	359	c.349A>T	c.(349-351)Atc>Ttc	p.I117F	DRGX_ENST00000434016.1_Missense_Mutation_p.I122F			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	117					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGGGAGTTGATGTTTCTCACT	0.647																																																	0													112	124	121					10																	50594790		2021	4171	6192	SO:0001583	missense	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"Homeoboxes / PRD class"	21536	protein-coding gene	gene with protein product	"paired-like homeodomain trancription factor DRG11"	606701	"paired related homeobox-like 1"	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.349A>T	10.37:g.50594790T>A	ENSP00000363254:p.Ile117Phe			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.I122F	ENST00000374139.2	37	c.364		10	.	.	.	.	.	.	.	.	.	.	T	11.05	1.523871	0.27299	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.91351	-2.83;-2.76	5.42	3.06	0.35304	.	0.171320	0.49916	D	0.000140	T	0.77377	0.4121	N	0.19112	0.55	0.46542	D	0.999099	B	0.18741	0.03	B	0.20577	0.03	T	0.60979	-0.7155	10	0.09590	T	0.72	.	2.0897	0.03654	0.1764:0.0792:0.2455:0.4989	.	122	C9JW76	.	F	117;122	ENSP00000363254:I117F;ENSP00000401653:I122F	ENSP00000363254:I117F	I	-	1	0	DRGX	50264796	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	0.666000	0.25097	0.357000	0.24183	0.533000	0.62120	ATC	DRGX	-	NULL	ENSG00000165606		0.647	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	-	0	86	0	T	XM_060970		50594790	-1	tier1	-	no_errors	ENST00000434016	ensembl	human	known	74_37	missense	32.84	45	22	SNP	1.000	A	A	50594790	T	A	50594790	3	1	87	1	0	0	0	0	1	0	0	0	4777	1464	51	5	453	5	DRGX	10	50594790	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1154514	50594790	84939957	1028	24152											
SLC18A3	6572	genome.wustl.edu	37	chr10	50819743	50819743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacgtggatgaagcatacGatggcggcttccgagtggga	9	7	16	9	4	0	1	0	1	0	0	1	5	1	3	2	4	2	2	2	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:50819743G>A	ENST00000374115.3	+	1	1397	c.957G>A	c.(955-957)acG>acA	p.T319T	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	319					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TGAAGCATACGATGGCGGCTT	0.652																																																	0													76	74	74					10																	50819743		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"Solute carriers"	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.957G>A	10.37:g.50819743G>A			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T319	ENST00000374115.3	37	c.957	CCDS7231.1	10																																																																																			SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.652	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0	19	0	G	NM_003055		50819743	1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	silent	21.43	22	6	SNP	1.000	A	A	50819743	G	A	50819743	2	1	87	1	0	0	0	0	0	0	0	1	14472	1045	37	1		1	SLC18A3	10	50819743	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	224953	50819743	84715004	1029	24153											
OGDHL	55753	genome.wustl.edu	37	chr10	50954894	50954894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgccctggccagcaaaggCggcgtccccatgaaccagga	10	3	12	16	3	0	1	0	1	0	0	1	2	1	2	5	4	2	1	5	4	2	0	rs199864072		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:50954894C>T	ENST00000374103.4	-	10	1283	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	OGDHL_ENST00000419399.1_Missense_Mutation_p.A343T|OGDHL_ENST00000432695.1_Missense_Mutation_p.A191T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	400					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.A400T(3)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGCAAAGGCGGCGTCCCCA	0.632																																																	3	Substitution - Missense(3)	large_intestine(2)|endometrium(1)						C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	114	84	94		1027,571,1198	5.8	1	10		94	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	OGDHL	NM_001143996.1,NM_001143997.1,NM_018245.2	58,58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	343/954,191/802,400/1011	50954894	2,13004	2203	4300	6503	SO:0001583	missense	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1198G>A	10.37:g.50954894C>T	ENSP00000363216:p.Ala400Thr		A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.A400T	ENST00000374103.4	37	c.1198	CCDS7234.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.554669	0.96501	0.0	2.33E-4	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.97831	-4.56;-4.56;-4.56	5.76	5.76	0.90799	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99330	0.9765	H	0.97918	4.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.986;0.975;0.995	D	0.98581	1.0650	10	0.87932	D	0	.	19.9576	0.97228	0.0:1.0:0.0:0.0	.	343;191;400	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	T	400;343;191	ENSP00000363216:A400T;ENSP00000401356:A343T;ENSP00000390240:A191T	ENSP00000363216:A400T	A	-	1	0	OGDHL	50624900	1.000000	0.71417	0.969000	0.41365	0.734000	0.41952	7.776000	0.85560	2.736000	0.93811	0.655000	0.94253	GCC	OGDHL	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000197444		0.632	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1		0	26	0	C	NM_018245		50954894	-1			no_errors	ENST00000374103	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	50954894	C	T	50954894	3	4	87	1	0	0	0	0	1	0	0	0	10879	768	27	1	1890	1	OGDHL	10	50954894	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	135151	50954894	84579853	1030	24154											
MBL2	4153	genome.wustl.edu	37	chr10	54531373	54531373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatactcaggagaaggagaGggagtgatggaaacagggac	15	4	16	6	0	1	3	1	1	0	2	1	8	1	6	1	5	2	0	1	5	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:54531373G>T	ENST00000373968.3	-	1	87	c.23C>A	c.(22-24)cCt>cAt	p.P8H		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	8					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GAGAAGGAGAGGGAGTGATGG	0.498																																																	0													69	62	65					10																	54531373		2203	4300	6503	SO:0001583	missense	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.23C>A	10.37:g.54531373G>T	ENSP00000363079:p.Pro8His		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P8H	ENST00000373968.3	37	c.23	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	G	2.733	-0.263925	0.05754	.	.	ENSG00000165471	ENST00000373968	T	0.71103	-0.54	4.43	1.33	0.21861	.	0.938895	0.08847	N	0.885067	T	0.48333	0.1494	N	0.14661	0.345	0.09310	N	1	P	0.40000	0.698	B	0.40329	0.326	T	0.33189	-0.9878	10	0.14252	T	0.57	0.3329	3.0571	0.06188	0.2991:0.2318:0.4691:0.0	.	8	P11226	MBL2_HUMAN	H	8	ENSP00000363079:P8H	ENSP00000363079:P8H	P	-	2	0	MBL2	54201379	0.378000	0.25114	0.254000	0.24359	0.180000	0.23129	0.446000	0.21694	0.276000	0.22118	-0.175000	0.13238	CCT	MBL2	-	NULL	ENSG00000165471		0.498	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1	-	0	53	0	G	NM_000242		54531373	-1	tier1	-	no_errors	ENST00000373968	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.288	T	T	54531373	G	T	54531373	3	4	87	1	0	0	0	0	1	0	0	0	9388	1000	35	3	739	3	MBL2	10	54531373	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3576479	54531373	81003374	1031	24155											
ANK3	288	genome.wustl.edu	37	chr10	61819734	61819734	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtagtgcaaccctgtggggGtttccagttccacttgaagg	7	12	13	9	0	0	1	0	1	0	0	2	1	2	1	3	3	2	4	3	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:61819734G>A	ENST00000280772.2	-	41	12787				RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.T730I|ANK3_ENST00000373827.2_Missense_Mutation_p.T1590I|ANK3_ENST00000503366.1_Missense_Mutation_p.T1597I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCCTGTGGGGGTTTCCAGTTC	0.418																																																	0													55	55	55					10																	61819734		2203	4300	6503	SO:0001627	intron_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12596-546C>T	10.37:g.61819734G>A			B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5	p.T730I	ENST00000280772.2	37	c.2189	CCDS7258.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.32|19.32	3.805138|3.805138	0.70682|0.70682	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000514197|ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817	.|T;T;T;T	.|0.57107	.|0.42;0.42;0.42;0.42	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|.	.|.	.|.	.|.	T|T	0.67711|0.67711	0.2922|0.2922	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;P;B;B;D;D	.|0.67145	.|0.08;0.86;0.002;0.095;0.996;0.995	.|B;B;B;B;D;D	.|0.66716	.|0.027;0.304;0.01;0.03;0.946;0.942	T|T	0.66524|0.66524	-0.5902|-0.5902	5|9	.|0.54805	.|T	.|0.06	.|.	19.9961|19.9961	0.97386|0.97386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1597;730;1590;831;730;129	.|E9PE32;A8KA62;Q5CZH9;F5GXK0;B1AQT2;B1AQT0	.|.;.;.;.;.;.	S|I	112|1590;188;730;730;1597;1576;831	.|ENSP00000362933:T1590I;ENSP00000362926:T188I;ENSP00000347436:T730I;ENSP00000425236:T1597I	.|ENSP00000347436:T730I	P|T	-|-	1|2	0|0	ANK3|ANK3	61489740|61489740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.008000|7.008000	0.76341|0.76341	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	CCC|ACC	ANK3	-	NULL	ENSG00000151150		0.418	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	63	0	G	NM_020987		61819734	-1	tier1	-	no_errors	ENST00000355288	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	A	A	61819734	G	A	61819734	1	1	87	0	1	0	0	0	0	0	0	0	622	1261	44	3		3	ANK3	10	61819734	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7288361	61819734	73715013	1032	24156											
ANK3	288	genome.wustl.edu	37	chr10	61835822	61835822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaagggcgtagcttccGtgactgctggagctctagcc	6	12	12	11	2	1	1	0	1	1	0	2	2	2	2	2	2	4	4	2	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:61835822G>A	ENST00000280772.2	-	37	5008	c.4817C>T	c.(4816-4818)aCg>aTg	p.T1606M	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1606	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGTAGCTTCCGTGACTGCTGG	0.483																																																	0													124	119	121					10																	61835822		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4817C>T	10.37:g.61835822G>A	ENSP00000280772:p.Thr1606Met		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T1606M	ENST00000280772.2	37	c.4817	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692828	0.48202	.	.	ENSG00000151150	ENST00000280772	T	0.67171	-0.25	5.79	4.89	0.63831	.	0.170348	0.27710	N	0.018165	T	0.59018	0.2163	L	0.50333	1.59	0.80722	D	1	B	0.31752	0.338	B	0.16289	0.015	T	0.61187	-0.7113	10	0.59425	D	0.04	.	15.0995	0.72262	0.0682:0.0:0.9318:0.0	.	1606	Q12955	ANK3_HUMAN	M	1606	ENSP00000280772:T1606M	ENSP00000280772:T1606M	T	-	2	0	ANK3	61505828	1.000000	0.71417	0.906000	0.35671	0.882000	0.50991	4.060000	0.57477	1.469000	0.48083	-0.186000	0.12905	ACG	ANK3	-	NULL	ENSG00000151150		0.483	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	-	0	50	0	G	NM_020987		61835822	-1	tier1	-	no_errors	ENST00000280772	ensembl	human	known	74_37	missense	10.42	43	5	SNP	0.949	A	A	61835822	G	A	61835822	3	1	87	1	0	0	0	0	1	0	0	0	622	1145	40	1	8657	1	ANK3	10	61835822	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	16088	61835822	73698925	1033	24157											
ATOH7	220202	genome.wustl.edu	37	chr10	69991281	69991281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgttgagcccctgcatgcGgcggcgctcgcgcgcgttgg	3	8	17	13	7	0	1	0	1	0	0	1	1	0	1	2	3	3	4	2	3	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:69991281G>A	ENST00000373673.3	-	1	590	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	RP11-153K11.3_ENST00000444086.1_lincRNA	NM_145178.3	NP_660161.1	Q8N100	ATOH7_HUMAN	atonal homolog 7 (Drosophila)	52	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|neural retina development (GO:0003407)|optic nerve development (GO:0021554)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCTGCATGCGGCGGCGCTCG	0.731																																																	0													26	26	26					10																	69991281		2202	4298	6500	SO:0001583	missense	0			AF418922	CCDS7276.1	10q22.2	2013-05-21			ENSG00000179774	ENSG00000179774		"Basic helix-loop-helix proteins"	13907	protein-coding gene	gene with protein product		609875				11889557	Standard	NM_145178		Approved	Math5, bHLHa13	uc001jnq.3	Q8N100	OTTHUMG00000018346	ENST00000373673.3:c.154C>T	10.37:g.69991281G>A	ENSP00000362777:p.Arg52Cys			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R52C	ENST00000373673.3	37	c.154	CCDS7276.1	10	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218569	0.79464	.	.	ENSG00000179774	ENST00000373673	D	0.99722	-6.53	4.91	3.94	0.45596	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	H	0.99545	4.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96559	0.9414	9	.	.	.	-9.6103	12.0124	0.53295	0.0:0.0:0.6966:0.3034	.	52	Q8N100	ATOH7_HUMAN	C	52	ENSP00000362777:R52C	.	R	-	1	0	ATOH7	69661287	0.998000	0.40836	1.000000	0.80357	0.754000	0.42855	2.565000	0.45939	2.280000	0.76307	0.491000	0.48974	CGC	ATOH7	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000179774		0.731	ATOH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH7	HGNC	protein_coding	OTTHUMT00000048312.1	-	0	40	0	G			69991281	-1	tier1	-	no_errors	ENST00000373673	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.999	A	A	69991281	G	A	69991281	3	1	87	1	0	0	0	0	1	0	0	0	1114	1116	39	1	308	1	ATOH7	10	69991281	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	8155459	69991281	65543466	1034	24158											
DNA2	1763	genome.wustl.edu	37	chr10	70209862	70209862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcttgtattttgttttatAccctcgatgtattttcacac	8	21	4	8	1	2	0	1	0	1	0	3	1	2	0	1	0	1	3	1	0	5	11			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:70209862A>G	ENST00000358410.3	-	6	912	c.862T>C	c.(862-864)Tat>Cat	p.Y288H	DNA2_ENST00000399179.2_Missense_Mutation_p.Y288H|DNA2_ENST00000399180.2_Missense_Mutation_p.Y374H	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	288	Nuclease activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTTGTTTTATACCCTCGATGT	0.343																																																	0													97	85	89					10																	70209862		1826	4080	5906	SO:0001583	missense	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)"	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.862T>C	10.37:g.70209862A>G	ENSP00000351185:p.Tyr288His		Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase	p.Y374H	ENST00000358410.3	37	c.1120		10	.	.	.	.	.	.	.	.	.	.	A	9.017	0.983936	0.18889	.	.	ENSG00000138346	ENST00000551118;ENST00000399180;ENST00000399179;ENST00000358410	D;D;D	0.93604	-2.76;-3.25;-2.74	5.1	-2.16	0.07080	.	1.695430	0.02974	N	0.144671	D	0.85410	0.5690	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.70160	-0.4948	10	0.33141	T	0.24	.	0.9607	0.01395	0.4261:0.2264:0.1286:0.2189	.	288;288	F8VR31;P51530	.;DNA2L_HUMAN	H	288;374;288;288	ENSP00000382133:Y374H;ENSP00000382132:Y288H;ENSP00000351185:Y288H	ENSP00000351185:Y288H	Y	-	1	0	DNA2	69879868	0.000000	0.05858	0.000000	0.03702	0.819000	0.46315	0.429000	0.21412	-0.703000	0.05049	0.533000	0.62120	TAT	DNA2	-	NULL	ENSG00000138346		0.343	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	-	0	85	0	A			70209862	-1	tier1	-	no_errors	ENST00000399180	ensembl	human	known	74_37	missense	12.36	78	11	SNP	0.000	G	G	70209862	A	G	70209862	3	3	87	1	0	0	0	0	1	0	0	0	4610	391	14	4	2384	4	DNA2	10	70209862	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	218581	70209862	65324885	1035	24159											
SLC25A16	8034	genome.wustl.edu	37	chr10	70246947	70246947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcctaattgcattcgccGacgagtcacatcaaatgggt	11	11	9	10	3	2	0	2	0	0	0	4	2	3	0	2	1	1	2	2	1	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:70246947G>A	ENST00000609923.1	-	8	894	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Missense_Mutation_p.R168W	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16	266					coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						TGCATTCGCCGACGAGTCACA	0.328																																																	0													127	127	127					10																	70246947		2203	4300	6503	SO:0001583	missense	0			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"Solute carriers"	10986	protein-coding gene	gene with protein product	"Graves disease autoantigen"	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.796C>T	10.37:g.70246947G>A	ENSP00000476815:p.Arg266Trp		Q8N2U1	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier	p.R266W	ENST00000609923.1	37	c.796	CCDS7280.1	10	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352461	0.41700	.	.	ENSG00000122912	ENST00000265870;ENST00000539557	T;T	0.79352	-1.26;-1.26	5.14	2.19	0.27852	Mitochondrial carrier domain (2);	0.167682	0.51477	D	0.000097	D	0.90793	0.7109	H	0.98333	4.205	0.52501	D	0.99995	D	0.89917	1.0	D	0.97110	1.0	D	0.88611	0.3156	10	0.87932	D	0	-7.7348	6.4923	0.22123	0.1492:0.0:0.5505:0.3003	.	266	P16260	GDC_HUMAN	W	266;168	ENSP00000265870:R266W;ENSP00000443914:R168W	ENSP00000265870:R266W	R	-	1	2	SLC25A16	69916953	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	3.534000	0.53568	0.552000	0.29026	-0.147000	0.13772	CGG	SLC25A16	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000122912		0.328	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A16	HGNC	protein_coding	OTTHUMT00000048347.2	-	0	55	0	G			70246947	-1	tier1	-	no_errors	ENST00000609923	ensembl	human	known	74_37	missense	28.00	34	14	SNP	0.999	A	A	70246947	G	A	70246947	3	1	87	1	0	0	0	0	1	0	0	0	14523	1057	37	1	210	1	SLC25A16	10	70246947	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	37085	70246947	65287800	1036	24160											
KIAA1279	26128	genome.wustl.edu	37	chr10	70775971	70775972	+	Frame_Shift_Ins	INS	-	-	A																															gagttgcccgtctctatggcINSaaaatcattactgcagatcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:70775971_70775972insA	ENST00000361983.4	+	7	1767_1768	c.1665_1666insA	c.(1666-1668)aaafs	p.K556fs		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	556					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GTCTCTATGGCAAAATCATTAC	0.421																																																	0																																										SO:0001589	frameshift_variant	0			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1669dupA	10.37:g.70775975_70775975dupA	ENSP00000354848:p.Lys556fs		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Frame_Shift_Ins	INS	pfam_KBP	p.I556fs	ENST00000361983.4	37	c.1665_1666	CCDS7284.1	10																																																																																			KIAA1279	-	pfam_KBP	ENSG00000198954		0.421	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1		0	89	0	-	NM_015634		70775972	1	tier1		no_errors	ENST00000361983	ensembl	human	known	74_37	frame_shift_ins	25.42	44	15	INS	1.000:1.000	A	A	70775972	-	A	70775971	7	5	87	1	0	1	1	0	0	0	0	0	8248	697	25	0	1691	0	KIAA1279	10	70775971	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	529024	70775971	64758776	1037	24161											
NEUROG3	50674	genome.wustl.edu	37	chr10	71332488	71332488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggacaccgcgcagggcGtccagtgccgagttgaggtt	7	6	17	11	4	0	1	0	1	0	0	1	3	1	2	3	4	1	4	3	4	0	2	rs373071581		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:71332488G>A	ENST00000242462.4	-	2	341	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CGCGCAGGGCGTCCAGTGCCG	0.612																																																	0								G		0,4406		0,0,2203	101	67	79		312	3.6	1	10		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NEUROG3	NM_020999.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		104/215	71332488	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"Basic helix-loop-helix proteins"	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.312C>T	10.37:g.71332488G>A			Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.D104	ENST00000242462.4	37	c.312	CCDS31212.1	10																																																																																			NEUROG3	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000122859		0.612	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	HGNC	protein_coding	OTTHUMT00000048464.1	-	0	45	0	G	NM_020999		71332488	-1	tier1	-	no_errors	ENST00000242462	ensembl	human	known	74_37	silent	13.04	40	6	SNP	1.000	A	A	71332488	G	A	71332488	2	1	87	1	0	0	0	0	0	0	0	1	10393	1136	40	1		1	NEUROG3	10	71332488	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	556517	71332488	64202259	1038	24162											
AIFM2	84883	genome.wustl.edu	37	chr10	71880273	71880273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcacctctttctcaGgatattctgttttaatctct	6	18	5	12	0	5	0	2	0	4	0	7	1	5	1	2	2	0	2	2	2	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:71880273G>A	ENST00000307864.1	-	5	710	c.497C>T	c.(496-498)cCt>cTt	p.P166L	AIFM2_ENST00000482166.1_5'Flank|AIFM2_ENST00000373248.1_Missense_Mutation_p.P166L	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	166					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTCTTTCTCAGGATATTCTGT	0.517																																																	0													205	196	199					10																	71880273		2203	4300	6503	SO:0001583	missense	0			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.497C>T	10.37:g.71880273G>A	ENSP00000312370:p.Pro166Leu		B3KXI0|Q63Z39	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Pyridine_nuc-diS_OxRdtase_2,prints_Rng_hydrolase-like	p.P166L	ENST00000307864.1	37	c.497	CCDS7297.1	10	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891839	0.72524	.	.	ENSG00000042286	ENST00000373248;ENST00000307864;ENST00000395039	T;T	0.45668	0.89;0.89	5.05	4.15	0.48705	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.105878	0.64402	D	0.000003	T	0.64494	0.2603	M	0.82923	2.615	0.80722	D	1	D	0.67145	0.996	D	0.68943	0.961	T	0.68383	-0.5423	10	0.46703	T	0.11	-18.5295	13.3568	0.60633	0.0769:0.0:0.9231:0.0	.	166	Q9BRQ8	AIFM2_HUMAN	L	166;166;126	ENSP00000362345:P166L;ENSP00000312370:P166L	ENSP00000312370:P166L	P	-	2	0	AIFM2	71550279	1.000000	0.71417	0.139000	0.22197	0.991000	0.79684	6.942000	0.75928	1.371000	0.46172	0.655000	0.94253	CCT	AIFM2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom	ENSG00000042286		0.517	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM2	HGNC	protein_coding	OTTHUMT00000048487.1	-	0	43	0	G	NM_032797		71880273	-1	tier1	-	no_errors	ENST00000307864	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.988	A	A	71880273	G	A	71880273	3	1	87	1	0	0	0	0	1	0	0	0	427	1000	35	3	644	3	AIFM2	10	71880273	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	547785	71880273	63654474	1039	24163											
SAR1A	56681	genome.wustl.edu	37	chr10	71921648	71921648	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgctgaagccattgtaGatccactcaaagatgaaaga	16	8	8	9	0	1	5	1	2	0	3	2	5	2	5	2	0	2	2	2	0	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:71921648G>T	ENST00000373242.2	-	3	220	c.24C>A	c.(22-24)atC>atA	p.I8I	SAR1A_ENST00000373236.1_Silent_p.I8I|SAR1A_ENST00000458634.2_Intron|SAR1A_ENST00000373241.4_Silent_p.I8I|SAR1A_ENST00000373238.1_Silent_p.I8I|SAR1A_ENST00000431664.2_Silent_p.I8I|SAR1A_ENST00000477464.1_5'UTR	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	secretion associated, Ras related GTPase 1A	8					intracellular protein transport (GO:0006886)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGCCATTGTAGATCCACTCAA	0.363																																																	0													77	72	74					10																	71921648		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7298.1	10q22.1	2014-03-07	2014-03-07	2005-10-21	ENSG00000079332	ENSG00000079332			10534	protein-coding gene	gene with protein product		607691	"SAR1a gene homolog (S. cerevisiae) 1", "SAR1a gene homolog 1 (S. cerevisiae)", "SAR1 homolog A (S. cerevisiae)"	SARA1		10871277	Standard	NM_020150		Approved	SAR1, Sara	uc010qji.2	Q9NR31	OTTHUMG00000018400	ENST00000373242.2:c.24C>A	10.37:g.71921648G>T			B4DQ19	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I8	ENST00000373242.2	37	c.24	CCDS7298.1	10																																																																																			SAR1A	-	smart_Small_GTPase_ARF	ENSG00000079332		0.363	SAR1A-007	KNOWN	basic|appris_principal|CCDS	protein_coding	SAR1A	HGNC	protein_coding	OTTHUMT00000048500.2	-	0	30	0	G			71921648	-1	tier1	-	no_errors	ENST00000373238	ensembl	human	known	74_37	silent	25.00	27	9	SNP	1.000	T	T	71921648	G	T	71921648	2	4	87	1	0	0	0	0	0	0	0	1	13884	932	33	3		3	SAR1A	10	71921648	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	41375	71921648	63613099	1040	24164											
UNC5B	219699	genome.wustl.edu	37	chr10	73051550	73051550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggcacctttggctgcctGggtgggaggctcagcatccc	5	8	15	13	1	1	0	1	0	0	0	2	1	2	1	3	5	3	4	3	5	0	1	rs139635033	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:73051550G>T	ENST00000335350.6	+	10	2072	c.1656G>T	c.(1654-1656)ctG>ctT	p.L552L	UNC5B_ENST00000373192.4_Silent_p.L541L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	552	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTGGCTGCCTGGGTGGGAGGC	0.687																																																	0													23	24	23					10																	73051550		2203	4298	6501	SO:0001819	synonymous_variant	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1656G>T	10.37:g.73051550G>T			Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.L552	ENST00000335350.6	37	c.1656	CCDS7309.1	10																																																																																			UNC5B	-	pfam_ZU5,smart_ZU5,pfscan_ZU5	ENSG00000107731		0.687	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	-	0	63	0	G	NM_170744		73051550	1	tier1	-	no_errors	ENST00000335350	ensembl	human	known	74_37	silent	8.89	40	4	SNP	1.000	T	T	73051550	G	T	73051550	2	4	87	1	0	0	0	0	0	0	0	1	17041	1335	47	3		3	UNC5B	10	73051550	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1129902	73051550	62483197	1041	24165											
CDH23	64072	genome.wustl.edu	37	chr10	73562688	73562688	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatgtcaatgactgcCggccacagttctccaagccc	8	9	10	14	1	2	1	1	1	1	0	3	2	2	2	4	2	3	2	4	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:73562688C>A	ENST00000224721.6	+	53	7536	c.7531C>A	c.(7531-7533)Cgg>Agg	p.R2511R	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.R266R	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2506	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAATGACTGCCGGCCACAGTT	0.587																																																	0													56	58	57					10																	73562688		2039	4209	6248	SO:0001819	synonymous_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7531C>A	10.37:g.73562688C>A			C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R266	ENST00000224721.6	37	c.796		10																																																																																			CDH23	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	-	0	40	0	C	NM_052836		73562688	1	tier1	-	no_errors	ENST00000398788	ensembl	human	known	74_37	silent	14.81	23	4	SNP	1.000	A	A	73562688	C	A	73562688	2	1	87	1	0	0	0	0	0	0	0	1	3115	643	23	2		2	CDH23	10	73562688	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	511138	73562688	61972059	1042	24166											
SYNPO2L	79933	genome.wustl.edu	37	chr10	75406682	75406682	+	Frame_Shift_Del	DEL	G	G	-																															atccagtgtagtggctgctcGgggggcaagcacagtgggag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:75406682delG	ENST00000394810.2	-	4	2877	c.2728delC	c.(2728-2730)cgafs	p.R910fs	SYNPO2L_ENST00000372873.4_Frame_Shift_Del_p.R686fs	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	910	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GTGGCTGCTCGGGGGGCAAGC	0.652																																																	0													36	38	38					10																	75406682		2203	4300	6503	SO:0001589	frameshift_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2728delC	10.37:g.75406682delG	ENSP00000378289:p.Arg910fs		A5PKV9|Q68A20	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R910fs	ENST00000394810.2	37	c.2728	CCDS44438.1	10																																																																																			SYNPO2L	-	NULL	ENSG00000166317		0.652	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2		0	103	0	G	NM_024875		75406682	-1	tier1		no_errors	ENST00000394810	ensembl	human	known	74_37	frame_shift_del	13.48	77	12	DEL	0.868	-	-	75406682	G	-	75406682	7	5	87	1	0	1	0	1	0	0	0	0	15505	1124	39	0	209	0	SYNPO2L	10	75406682	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	1843994	75406682	60128065	1043	24167											
POLR3A	11128	genome.wustl.edu	37	chr10	79761979	79761979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgcacagagccatggTgagggggctgttgctcttgt	6	9	17	9	1	1	2	0	1	1	1	1	3	1	3	2	4	3	4	2	4	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:79761979T>C	ENST00000372371.3	-	17	2472	c.2335A>G	c.(2335-2337)Acc>Gcc	p.T779A		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	779					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGAGCCATGGTGAGGGGGCTG	0.582																																																	0													76	61	66					10																	79761979		2203	4298	6501	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2335A>G	10.37:g.79761979T>C	ENSP00000361446:p.Thr779Ala		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.T779A	ENST00000372371.3	37	c.2335	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552441	0.65311	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.76839	-1.05	5.49	4.35	0.52113	RNA polymerase Rpb1, domain 4 (1);	0.389858	0.29980	N	0.010712	T	0.65428	0.2690	L	0.29908	0.895	0.35176	D	0.772026	B	0.24675	0.109	B	0.27170	0.077	T	0.67138	-0.5746	9	.	.	.	-20.6708	11.073	0.48014	0.0:0.0724:0.0:0.9276	.	779	O14802	RPC1_HUMAN	A	779	ENSP00000361446:T779A	.	T	-	1	0	POLR3A	79431985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.597000	0.61062	2.218000	0.71995	0.533000	0.62120	ACC	POLR3A	-	pfam_RNA_pol_Rpb1_4	ENSG00000148606		0.582	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0	23	0	T	NM_007055		79761979	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	C	C	79761979	T	C	79761979	3	2	87	1	0	0	0	0	1	0	0	0	12267	1696	59	4	1897	4	POLR3A	10	79761979	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	4355297	79761979	55772768	1044	24168											
POLR3A	11128	genome.wustl.edu	37	chr10	79782027	79782027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaaggaggcaccaaaagtCgtgtgagaatcaaatcagac	18	5	10	8	1	2	2	2	1	0	2	3	4	2	3	1	2	0	1	1	2	5	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:79782027C>T	ENST00000372371.3	-	6	898	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	POLR3A_ENST00000484760.1_5'Flank	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	254					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACCAAAAGTCGTGTGAGAAT	0.418																																																	0													74	67	69					10																	79782027		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.761G>A	10.37:g.79782027C>T	ENSP00000361446:p.Arg254Gln		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R254Q	ENST00000372371.3	37	c.761	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848796	0.71603	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.67865	-0.29	4.93	4.93	0.64822	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	M	0.81341	2.54	0.80722	D	1	P	0.50369	0.934	B	0.39935	0.314	T	0.75725	-0.3217	9	.	.	.	-7.3741	18.1457	0.89653	0.0:1.0:0.0:0.0	.	254	O14802	RPC1_HUMAN	Q	254	ENSP00000361446:R254Q	.	R	-	2	0	POLR3A	79452033	1.000000	0.71417	0.970000	0.41538	0.780000	0.44128	7.479000	0.81095	2.290000	0.77057	0.555000	0.69702	CGA	POLR3A	-	pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	ENSG00000148606		0.418	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0	41	0	C	NM_007055		79782027	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	T	T	79782027	C	T	79782027	3	4	87	1	0	0	0	0	1	0	0	0	12267	884	31	1	3515	1	POLR3A	10	79782027	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	20048	79782027	55752720	1045	24169											
POLR3A	11128	genome.wustl.edu	37	chr10	79785947	79785947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgtgcgcctgctggcGcatctcctcaggtgacttca	5	12	12	12	2	3	1	2	1	1	0	4	2	3	2	2	3	2	2	2	3	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:79785947G>A	ENST00000372371.3	-	2	222	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	29					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GCCTGCTGGCGCATCTCCTCA	0.463																																																	0													81	74	76					10																	79785947		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.85C>T	10.37:g.79785947G>A	ENSP00000361446:p.Arg29Cys		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R29C	ENST00000372371.3	37	c.85	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077035	0.76415	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.26223	1.75	5.1	5.1	0.69264	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	T	0.50684	-0.8799	9	.	.	.	-19.5699	18.5131	0.90925	0.0:0.0:1.0:0.0	.	29	O14802	RPC1_HUMAN	C	29	ENSP00000361446:R29C	.	R	-	1	0	POLR3A	79455953	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	9.416000	0.97383	2.365000	0.80145	0.455000	0.32223	CGC	POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.463	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0	60	0	G	NM_007055		79785947	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A	A	79785947	G	A	79785947	3	1	87	1	0	0	0	0	1	0	0	0	12267	1087	38	1	4207	1	POLR3A	10	79785947	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3920	79785947	55748800	1046	24170											
ZMIZ1	57178	genome.wustl.edu	37	chr10	80968093	80968093	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccttttcctttcccacagCacttacagaatcctgccaac	9	12	3	17	0	0	1	0	0	0	1	4	1	4	1	5	0	4	1	5	0	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:80968093C>T	ENST00000334512.5	+	6	633	c.61C>T	c.(61-63)Cac>Tac	p.H21Y		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	21					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TTTCCCACAGCACTTACAGAA	0.627																																																	0													65	53	57					10																	80968093		2203	4300	6503	SO:0001630	splice_region_variant	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"Zinc fingers, MIZ-type"	16493	protein-coding gene	gene with protein product		607159	"retinoic acid induced 17"	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.61-1C>T	10.37:g.80968093C>T			Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.H21Y	ENST00000334512.5	37	c.61	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906745	0.92107	.	.	ENSG00000108175	ENST00000334512;ENST00000394592	T	0.32753	1.44	5.23	5.23	0.72850	.	.	.	.	.	T	0.48429	0.1499	L	0.60455	1.87	0.80722	D	1	P;D	0.62365	0.818;0.991	B;P	0.59056	0.069;0.851	T	0.37842	-0.9688	8	.	.	.	-16.6158	17.5796	0.87963	0.0:1.0:0.0:0.0	.	21;21	Q9ULJ6;A0JLS3	ZMIZ1_HUMAN;.	Y	21	ENSP00000334474:H21Y	.	H	+	1	0	ZMIZ1	80638099	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.290000	0.78711	2.445000	0.82738	0.462000	0.41574	CAC	ZMIZ1	-	NULL	ENSG00000108175		0.627	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	-	0	32	0	C	NM_020338	Missense_Mutation	80968093	1	tier1	-	no_errors	ENST00000334512	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	80968093	C	T	80968093	5	4	87	1	0	0	0	0	0	0	1	0	17744	724	25	3	67	3	ZMIZ1	10	80968093	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1182146	80968093	54566654	1047	24171											
SFTPA2	729238	genome.wustl.edu	37	chr10	81317336	81317336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattatggagccctgcagacTgagggctgagagcagaggag	11	6	16	8	0	0	4	0	2	0	3	0	7	0	6	1	3	3	3	1	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:81317336T>C	ENST00000372325.2	-	6	460	c.376A>G	c.(376-378)Agt>Ggt	p.S126G	SFTPA2_ENST00000372327.5_Missense_Mutation_p.S126G	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	126					respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCCTGCAGACTGAGGGCTGAG	0.552									Pulmonary Fibrosis, Idiopathic																																								0													65	79	74					10																	81317336		2151	4273	6424	SO:0001583	missense	0	Familial Cancer Database	Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia		CCDS41540.1	10q22.3	2012-11-02	2008-08-26			ENSG00000185303		"Collectins"	10799	protein-coding gene	gene with protein product	"surfactant, pulmonary-associated protein A2A"	178642	"surfactant, pulmonary-associated protein A2"				Standard	NM_001098668		Approved	SP-A2, COLEC5	uc001kal.4	Q8IWL1		ENST00000372325.2:c.376A>G	10.37:g.81317336T>C	ENSP00000361400:p.Ser126Gly		A4QPA7|B2RXI6|B2RXK9|C9J9I7|E3VLC6|E3VLC7|E3VLC8|E3VLC9|P07714|Q14DV3|Q5RIR8|Q5RIR9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S126G	ENST00000372325.2	37	c.376	CCDS41540.1	10	.	.	.	.	.	.	.	.	.	.	N	8.756	0.922490	0.17982	.	.	ENSG00000185303	ENST00000372325;ENST00000537207;ENST00000372327;ENST00000417041	D;D;D	0.87887	-1.83;-1.83;-2.31	2.98	-1.83	0.07833	.	0.901185	0.09775	N	0.757521	T	0.80944	0.4721	M	0.81682	2.555	0.09310	N	1	P	0.45569	0.861	B	0.27887	0.084	T	0.69308	-0.5179	10	0.54805	T	0.06	-4.4461	5.8055	0.18438	0.0:0.12:0.5456:0.3344	.	126	E3VLC8	.	G	126;92;126;126	ENSP00000361400:S126G;ENSP00000361402:S126G;ENSP00000397375:S126G	ENSP00000361400:S126G	S	-	1	0	SFTPA2	80987342	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-2.136000	0.01305	-0.704000	0.05042	-0.581000	0.04135	AGT	SFTPA2	-	smart_C-type_lectin	ENSG00000185303		0.552	SFTPA2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SFTPA2	HGNC	protein_coding	OTTHUMT00000048961.1	-	0	43	0	T	NM_001098668		81317336	-1	tier1	-	no_errors	ENST00000372325	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.013	C	C	81317336	T	C	81317336	3	2	87	1	0	0	0	0	1	0	0	0	14235	1580	55	4	374	4	SFTPA2	10	81317336	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	349243	81317336	54217411	1048	24172											
ANXA11	311	genome.wustl.edu	37	chr10	81923157	81923157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtttgtgctttcatcacggTttccctgaaaggaagcaggt	8	13	11	9	2	2	1	2	1	0	0	3	2	3	2	1	3	2	4	1	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:81923157T>G	ENST00000438331.1	-	12	1516	c.1034A>C	c.(1033-1035)aAc>aCc	p.N345T	ANXA11_ENST00000360615.4_Missense_Mutation_p.N345T|ANXA11_ENST00000537102.1_Missense_Mutation_p.N312T|ANXA11_ENST00000372231.3_Missense_Mutation_p.N345T|ANXA11_ENST00000265447.4_Missense_Mutation_p.N345T|ANXA11_ENST00000422982.3_Missense_Mutation_p.N345T|ANXA11_ENST00000535999.1_Missense_Mutation_p.N345T	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	345					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TTCATCACGGTTTCCCTGAAA	0.527																																																	0													132	91	105					10																	81923157		2203	4300	6503	SO:0001583	missense	0			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"Annexins"	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1034A>C	10.37:g.81923157T>G	ENSP00000398610:p.Asn345Thr		B4DVE7	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.N345T	ENST00000438331.1	37	c.1034	CCDS7364.1	10	.	.	.	.	.	.	.	.	.	.	.	21.1	4.093310	0.76756	.	.	ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000424188;ENST00000537102	T;T;T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55;3.55;3.55	5.43	5.43	0.79202	.	0.089648	0.85682	D	0.000000	T	0.14227	0.0344	L	0.49455	1.56	0.58432	D	0.999996	P;D;D	0.59357	0.875;0.985;0.985	P;P;P	0.61874	0.632;0.895;0.895	T	0.00589	-1.1656	10	0.46703	T	0.11	.	13.7305	0.62785	0.0:0.0:0.0:1.0	.	445;345;345	B7Z6L0;Q5T0G8;P50995	.;.;ANX11_HUMAN	T	345;345;345;345;345;345;345;252;312	ENSP00000361305:N345T;ENSP00000404412:N345T;ENSP00000398610:N345T;ENSP00000353827:N345T;ENSP00000265447:N345T;ENSP00000441748:N345T;ENSP00000441400:N312T	ENSP00000265447:N345T	N	-	2	0	ANXA11	81913137	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.798000	0.62510	2.199000	0.70637	0.533000	0.62120	AAC	ANXA11	-	NULL	ENSG00000122359		0.527	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	-	0	59	0	T	NM_145869		81923157	-1	tier1	-	no_errors	ENST00000265447	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	G	G	81923157	T	G	81923157	3	3	87	1	0	0	0	0	1	0	0	0	716	1725	60	4	507	4	ANXA11	10	81923157	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	605821	81923157	53611590	1049	24173											
FAM190B	54462	genome.wustl.edu	37	chr10	86185510	86185510	+	Frame_Shift_Del	DEL	T	T	-																															agtgtgacaatatgaaccgcTttgaccgaccagacagaaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:86185510delT	ENST00000224756.8	+	5	1914	c.1729delT	c.(1729-1731)tttfs	p.F577fs	CCSER2_ENST00000543283.1_Frame_Shift_Del_p.F4fs|CCSER2_ENST00000372088.2_Frame_Shift_Del_p.F577fs|CCSER2_ENST00000494144.1_3'UTR	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	577					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											TATGAACCGCTTTGACCGACC	0.443																																																	0													97	88	91					10																	86185510		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"KIAA1128", "family with sequence similarity 190, member B"	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1729delT	10.37:g.86185510delT	ENSP00000224756:p.Phe577fs		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Del	DEL	NULL	p.F577fs	ENST00000224756.8	37	c.1729	CCDS31235.1	10																																																																																			CCSER2	-	NULL	ENSG00000107771		0.443	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2		0	50	0	T	NM_018999		86185510	1	tier1		no_errors	ENST00000372088	ensembl	human	known	74_37	frame_shift_del	25.00	27	9	DEL	1.000	-	-	86185510	T	-	86185510	7	5	87	1	0	1	0	1	0	0	0	0	5541	1609	56	0	1743	0	FAM190B	10	86185510	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	4262353	86185510	49349237	1050	24174											
GRID1	2894	genome.wustl.edu	37	chr10	87407023	87407023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgttcttgctgatggtcCgccagagttcagcaaacgtg	7	11	11	12	3	2	2	1	1	1	1	4	2	4	2	3	1	3	4	3	1	1	3	rs150986701		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:87407023C>A	ENST00000327946.7	-	13	2214	c.2129G>T	c.(2128-2130)cGg>cTg	p.R710L	GRID1_ENST00000536331.1_Missense_Mutation_p.R281L|RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	710					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GCTGATGGTCCGCCAGAGTTC	0.572										Multiple Myeloma(13;0.14)																																							0													256	235	242					10																	87407023		2203	4300	6503	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2129G>T	10.37:g.87407023C>A	ENSP00000330148:p.Arg710Leu		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R710L	ENST00000327946.7	37	c.2129	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318247	0.60524	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.26660	1.72;1.72	5.7	3.52	0.40303	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.143577	0.64402	D	0.000010	T	0.30916	0.0780	M	0.78801	2.425	0.58432	D	0.999998	B	0.22800	0.075	B	0.17433	0.018	T	0.25433	-1.0132	10	0.59425	D	0.04	.	12.4853	0.55868	0.0:0.8401:0.0:0.1599	.	710	Q9ULK0	GRID1_HUMAN	L	710;281	ENSP00000330148:R710L;ENSP00000444455:R281L	ENSP00000330148:R710L	R	-	2	0	GRID1	87397003	1.000000	0.71417	0.983000	0.44433	0.946000	0.59487	1.467000	0.35321	1.413000	0.46997	0.650000	0.86243	CGG	GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.572	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3		0	57	0	C	XM_043613		87407023	-1			no_errors	ENST00000327946	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.998	A	A	87407023	C	A	87407023	3	1	87	1	0	0	0	0	1	0	0	0	6798	652	23	2	916	2	GRID1	10	87407023	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1221513	87407023	48127724	1051	24175											
PTEN	5728	genome.wustl.edu	37	chr10	89720738	89720738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaaaatggaagtctatgtGatcaagaaatcgatagcatt	17	11	9	4	1	2	3	1	1	1	2	3	5	2	4	0	1	1	1	0	1	8	4	rs267602610|rs370064195		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:89720738G>A	ENST00000371953.3	+	8	2246	c.889G>A	c.(889-891)Gat>Aat	p.D297N	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	297	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGTCTATGTGATCAAGAAAT	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"	10	10q23.3	5728	phosphatase and tensin homolog gene		"L, E, M, O"	50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)											87	87	87					10																	89720738		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	9588	protein-coding gene	gene with protein product	"mutated in multiple advanced cancers 1"	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.889G>A	10.37:g.89720738G>A	ENSP00000361021:p.Asp297Asn		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.D297N	ENST00000371953.3	37	c.889	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538395	0.45176	.	.	ENSG00000171862	ENST00000371953	D	0.94330	-3.4	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.174563	0.50627	D	0.000108	D	0.84329	0.5448	N	0.03608	-0.345	0.43841	D	0.99642	B	0.10296	0.003	B	0.10450	0.005	T	0.79531	-0.1765	9	.	.	.	-12.1043	18.5632	0.91108	0.0:0.0:1.0:0.0	.	297	P60484	PTEN_HUMAN	N	297	ENSP00000361021:D297N	.	D	+	1	0	PTEN	89710718	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.179000	0.71974	2.399000	0.81585	0.591000	0.81541	GAT	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	-	0	52	0	G	NM_000314		89720738	1	tier1	-	no_errors	ENST00000371953	ensembl	human	known	74_37	missense	19.64	45	11	SNP	1.000	A	A	89720738	G	A	89720738	3	1	87	1	0	0	0	0	1	0	0	0	12780	1290	45	3	919	3	PTEN	10	89720738	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2313715	89720738	45814009	1052	24176											
ACTA2	59	genome.wustl.edu	37	chr10	90701031	90701031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcaggatcttcatgaGgtagtcagtgagatctcggc	9	11	12	9	1	6	2	4	2	2	1	7	4	6	3	0	3	0	1	0	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:90701031G>T	ENST00000458208.1	-	6	1045	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.L191I|ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	191					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ATCTTCATGAGGTAGTCAGTG	0.542																																																	0													140	109	120					10																	90701031		2203	4300	6503	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.571C>A	10.37:g.90701031G>T	ENSP00000402373:p.Leu191Ile		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.L191I	ENST00000458208.1	37	c.571	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681317	0.68042	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.95690	-3.78;-3.78	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.88241	2.94	0.54753	D	0.999982	B	0.24533	0.105	P	0.51101	0.659	D	0.97105	0.9800	10	0.87932	D	0	.	18.7419	0.91777	0.0:0.0:1.0:0.0	.	191	P62736	ACTA_HUMAN	I	191;191;146	ENSP00000224784:L191I;ENSP00000402373:L191I	ENSP00000224784:L191I	L	-	1	0	ACTA2	90691011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.862000	0.87013	2.762000	0.94881	0.655000	0.94253	CTC	ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.542	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	-	0	61	0	G	NM_001613		90701031	-1	tier1	-	no_errors	ENST00000224784	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	90701031	G	T	90701031	3	4	87	1	0	0	0	0	1	0	0	0	192	1000	35	3	578	3	ACTA2	10	90701031	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	980293	90701031	44833716	1053	24177											
PANK1	53354	genome.wustl.edu	37	chr10	91353582	91353582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctaccttgatgctacaGcagatccttgaaggccaaat	12	11	7	11	0	1	3	0	2	1	1	3	3	2	3	3	1	4	2	3	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:91353582G>A	ENST00000307534.4	-	4	1630	c.1475C>T	c.(1474-1476)gCt>gTt	p.A492V	PANK1_ENST00000322191.6_Intron|PANK1_ENST00000371774.2_Missense_Mutation_p.A294V|MIR107_ENST00000362127.1_RNA|PANK1_ENST00000342512.3_Missense_Mutation_p.A267V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	492					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TGATGCTACAGCAGATCCTTG	0.448																																																	0													212	185	194					10																	91353582		2203	4300	6503	SO:0001583	missense	0			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"pantothenate kinase"	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1475C>T	10.37:g.91353582G>A	ENSP00000302108:p.Ala492Val		A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Missense_Mutation	SNP	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.A492V	ENST00000307534.4	37	c.1475	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050559	0.55218	.	.	ENSG00000152782	ENST00000342512;ENST00000371774;ENST00000307534;ENST00000371775	D;D;D	0.99563	-6.17;-6.17;-6.17	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	L	0.31207	0.915	0.80722	D	1	B;D;B	0.89917	0.002;1.0;0.002	B;D;B	0.91635	0.011;0.999;0.011	D	0.98908	1.0779	10	0.12430	T	0.62	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	294;492;267	Q8TE04-4;Q8TE04;Q8TE04-2	.;PANK1_HUMAN;.	V	267;294;492;355	ENSP00000345118:A267V;ENSP00000360839:A294V;ENSP00000302108:A492V	ENSP00000302108:A492V	A	-	2	0	PANK1	91343562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.793000	0.99091	2.941000	0.99782	0.655000	0.94253	GCT	PANK1	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK	ENSG00000152782		0.448	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	HGNC	protein_coding		-	0	83	0	G			91353582	-1	tier1	-	no_errors	ENST00000307534	ensembl	human	known	74_37	missense	11.76	75	10	SNP	1.000	A	A	91353582	G	A	91353582	3	1	87	1	0	0	0	0	1	0	0	0	11455	971	34	3	337	3	PANK1	10	91353582	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	652551	91353582	44181165	1054	24178											
BTAF1	9044	genome.wustl.edu	37	chr10	93756247	93756247	+	Frame_Shift_Del	DEL	T	T	-																															taccatggaaacaatgaataTttttttggagaaggttcttc																								rs368851377		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:93756247delT	ENST00000265990.6	+	24	3739	c.3431delT	c.(3430-3432)attfs	p.I1144fs	BTAF1_ENST00000544642.1_5'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1144					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACAATGAATATTTTTTTGGAG	0.433																																																	0													118	109	112					10																	93756247		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.3431delT	10.37:g.93756247delT	ENSP00000265990:p.Ile1144fs		B4E0W6|O43578	Frame_Shift_Del	DEL	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1146fs	ENST00000265990.6	37	c.3431	CCDS7419.1	10																																																																																			BTAF1	-	superfamily_ARM-type_fold	ENSG00000095564		0.433	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4		0	54	0	T	NM_003972		93756247	1	tier1		no_errors	ENST00000265990	ensembl	human	known	74_37	frame_shift_del	27.50	29	11	DEL	1.000	-	-	93756247	T	-	93756247	7	5	87	1	0	1	0	1	0	0	0	0	1540	1493	52	0	3525	0	BTAF1	10	93756247	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2402665	93756247	41778500	1055	24179											
SORBS1	10580	genome.wustl.edu	37	chr10	97174480	97174480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggcggcagaggcagtcGctgggattgtggggacgcag	7	6	21	7	3	0	2	0	1	0	1	1	4	0	4	0	6	0	4	0	6	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:97174480G>A	ENST00000361941.3	-	7	607	c.581C>T	c.(580-582)gCg>gTg	p.A194V	SORBS1_ENST00000393949.1_Missense_Mutation_p.A185V|SORBS1_ENST00000371249.2_Missense_Mutation_p.A162V|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.A194V|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.A194V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000277982.5_Missense_Mutation_p.A194V|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.A194V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A185V	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGAGGCAGTCGCTGGGATTGT	0.612																																																	0													58	62	61					10																	97174480		2203	4300	6503	SO:0001583	missense	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.581C>T	10.37:g.97174480G>A	ENSP00000355136:p.Ala194Val			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.A194V	ENST00000361941.3	37	c.581	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	G	7.197	0.592625	0.13875	.	.	ENSG00000095637	ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T	0.30714	1.52;3.17;1.52;3.45;3.0;3.17;3.45;3.0	5.68	2.68	0.31781	.	0.550508	0.15277	N	0.270937	T	0.15392	0.0371	N	0.24115	0.695	0.80722	D	1	B;B;B;B;B;B	0.34329	0.449;0.116;0.009;0.023;0.002;0.054	B;B;B;B;B;B	0.20384	0.029;0.011;0.003;0.002;0.001;0.011	T	0.07385	-1.0775	10	0.52906	T	0.07	-2.0452	5.2108	0.15316	0.169:0.0:0.5179:0.3131	.	392;162;194;162;194;194	B7Z9B7;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66;Q9BX66-2	.;.;.;.;SRBS1_HUMAN;.	V	162;194;194;194;185;194;194;185	ENSP00000360295:A162V;ENSP00000360293:A194V;ENSP00000360271:A194V;ENSP00000360292:A194V;ENSP00000377521:A185V;ENSP00000355136:A194V;ENSP00000277982:A194V;ENSP00000277984:A185V	ENSP00000277982:A194V	A	-	2	0	SORBS1	97164470	1.000000	0.71417	0.979000	0.43373	0.051000	0.14879	1.152000	0.31663	0.766000	0.33244	0.555000	0.69702	GCG	SORBS1	-	NULL	ENSG00000095637		0.612	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0	57	0	G			97174480	-1	tier1	-	no_errors	ENST00000361941	ensembl	human	known	74_37	missense	7.46	62	5	SNP	1.000	A	A	97174480	G	A	97174480	3	1	87	1	0	0	0	0	1	0	0	0	14972	1087	38	1	3594	1	SORBS1	10	97174480	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3418233	97174480	38360267	1056	24180											
ZNF518A	9849	genome.wustl.edu	37	chr10	97916214	97916214	+	RNA	DEL	A	A	-																															ggaagtattcattatgcactAaaaaatgtgaaaattgattt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:97916214delA	ENST00000534948.1	+	0	992							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTATGCACTAAAAAATGTGA	0.274																																																	0													41	41	41					10																	97916214		1791	4059	5850			0			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"Zinc fingers, C2H2-type"	29009	protein-coding gene	gene with protein product			"zinc finger protein 518"	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97916214delA			A0PJI5|O15044|Q32MP4	RNA	DEL	-	NULL	ENST00000534948.1	37	NULL		10																																																																																			ZNF518A	-	-	ENSG00000177853		0.274	ZNF518A-202	KNOWN	basic	processed_transcript	ZNF518A	HGNC	processed_transcript			0	83	0	A	NM_014803		97916214	1	tier1		no_errors	ENST00000478086	ensembl	human	known	74_37	rna	11.48	54	7	DEL	0.143	-	-	97916214	A	-	97916214	6	5	87	0	1	1	0	1	0	0	0	0	18010	349	13	0		0	ZNF518A	10	97916214	RNA	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	741734	97916214	37618533	1057	24181											
BLNK	29760	genome.wustl.edu	37	chr10	97975102	97975102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcctggaggagaggcGggcgttgaggaatttggctt	6	11	18	6	2	0	2	0	1	0	1	1	5	1	4	1	6	0	4	1	6	1	4	rs377748729		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:97975102G>A	ENST00000224337.5	-	8	792	c.651C>T	c.(649-651)ccC>ccT	p.P217P	BLNK_ENST00000413476.2_Silent_p.P217P|BLNK_ENST00000371176.2_Intron|BLNK_ENST00000427367.2_Silent_p.P217P	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	217	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GAGGAGAGGCGGGCGTTGAGG	0.353																																																	0								G	,	0,4406		0,0,2203	120	110	113		,651	-6.2	0	10		113	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	BLNK	NM_001114094.1,NM_013314.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,217/457	97975102	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.651C>T	10.37:g.97975102G>A			O75498|O75499|Q2MD49	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.P217	ENST00000224337.5	37	c.651	CCDS7446.1	10																																																																																			BLNK	-	NULL	ENSG00000095585		0.353	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0	135	0	G	NM_013314		97975102	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	silent	14.02	92	15	SNP	0.000	A	A	97975102	G	A	97975102	2	1	87	1	0	0	0	0	0	0	0	1	1449	1103	39	1		1	BLNK	10	97975102	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	58888	97975102	37559645	1058	24182											
CRTAC1	55118	genome.wustl.edu	37	chr10	99655012	99655012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgactcacccaggccaaaGtgtgccacgggctccatctc	8	6	9	18	2	2	0	1	0	1	0	4	1	3	0	5	2	1	1	5	2	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:99655012G>T	ENST00000370597.3	-	11	1831	c.1476C>A	c.(1474-1476)caC>caA	p.H492Q	CRTAC1_ENST00000298819.4_Missense_Mutation_p.H492Q|CRTAC1_ENST00000370591.2_Missense_Mutation_p.H492Q	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	492						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCAGGCCAAAGTGTGCCACGG	0.617																																																	0													75	65	69					10																	99655012		2203	4300	6503	SO:0001583	missense	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1476C>A	10.37:g.99655012G>T	ENSP00000359629:p.His492Gln		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.H492Q	ENST00000370597.3	37	c.1476	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521466	0.64747	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.79141	0.99;-1.24;0.97;-0.41;-0.41	5.06	3.15	0.36227	ASPIC/UnbV (1);	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	H	0.94620	3.56	0.50813	D	0.999892	D;D;D	0.89917	0.997;0.991;1.0	D;P;D	0.78314	0.973;0.906;0.991	D	0.90021	0.4128	10	0.72032	D	0.01	-25.2554	9.3507	0.38136	0.2437:0.0:0.7563:0.0	.	492;492;388	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	Q	388;492;492;484;492	ENSP00000408445:H388Q;ENSP00000359629:H492Q;ENSP00000298819:H492Q;ENSP00000310810:H484Q;ENSP00000359623:H492Q	ENSP00000298819:H492Q	H	-	3	2	CRTAC1	99645002	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.400000	0.52594	1.092000	0.41356	0.462000	0.41574	CAC	CRTAC1	-	pfam_UnbV_ASPIC	ENSG00000095713		0.617	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	-	0	39	0	G	NM_018058		99655012	-1	tier1	-	no_errors	ENST00000370597	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	99655012	G	T	99655012	3	4	87	1	0	0	0	0	1	0	0	0	3903	1020	36	3	529	3	CRTAC1	10	99655012	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1679910	99655012	35879735	1059	24183											
LOXL4	84171	genome.wustl.edu	37	chr10	100019168	100019168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagacttagggtccctcatCttcagatcccagactttcct	8	13	6	14	0	3	3	2	0	1	3	6	3	6	3	3	1	0	0	3	1	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:100019168C>A	ENST00000260702.3	-	5	831	c.681G>T	c.(679-681)aaG>aaT	p.K227N	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	227	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGTCCCTCATCTTCAGATCCC	0.562																																																	0													91	83	85					10																	100019168		2203	4300	6503	SO:0001583	missense	0			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.681G>T	10.37:g.100019168C>A	ENSP00000260702:p.Lys227Asn		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.K227N	ENST00000260702.3	37	c.681	CCDS7473.1	10	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533408	0.64972	.	.	ENSG00000138131	ENST00000260702	T	0.28666	1.6	4.45	4.45	0.53987	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.38401	0.1039	N	0.14661	0.345	0.53688	D	0.999977	D	0.89917	1.0	D	0.68765	0.96	T	0.46233	-0.9206	10	0.66056	D	0.02	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	227	Q96JB6	LOXL4_HUMAN	N	227	ENSP00000260702:K227N	ENSP00000260702:K227N	K	-	3	2	LOXL4	100009158	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	2.100000	0.41777	2.309000	0.77851	0.462000	0.41574	AAG	LOXL4	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000138131		0.562	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL4	HGNC	protein_coding	OTTHUMT00000049766.1	-	0	38	0	C	NM_032211		100019168	-1	tier1	-	no_errors	ENST00000260702	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A	A	100019168	C	A	100019168	3	1	87	1	0	0	0	0	1	0	0	0	8937	912	32	3	1633	3	LOXL4	10	100019168	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	364156	100019168	35515579	1060	24184											
CNNM1	26507	genome.wustl.edu	37	chr10	101117391	101117391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatcaagtcggagatcCtggatgaaactgatctctac	13	11	9	8	1	2	4	1	2	1	2	5	6	3	5	1	2	2	0	1	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:101117391C>A	ENST00000356713.4	+	2	1985	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M	CNNM1_ENST00000370528.3_Missense_Mutation_p.L495M|CNNM1_ENST00000446890.1_Missense_Mutation_p.L495M|CNNM1_ENST00000370534.4_Missense_Mutation_p.L201M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	566	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GTCGGAGATCCTGGATGAAAC	0.473																																																	0													92	79	83					10																	101117391		2203	4300	6503	SO:0001583	missense	0			AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"cyclin M1"	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1696C>A	10.37:g.101117391C>A	ENSP00000349147:p.Leu566Met		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	pfam_DUF21,pfam_CBS_dom	p.L566M	ENST00000356713.4	37	c.1696	CCDS7478.2	10	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769018	0.69992	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.7	5.7	0.88788	Cystathionine beta-synthase, core (1);	0.073162	0.56097	D	0.000030	T	0.50548	0.1622	N	0.21142	0.635	0.52099	D	0.999949	P;D;B;P	0.60160	0.842;0.987;0.44;0.892	P;P;B;P	0.61592	0.67;0.891;0.279;0.519	T	0.49799	-0.8901	10	0.49607	T	0.09	-25.3609	19.8242	0.96610	0.0:1.0:0.0:0.0	.	201;566;201;566	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	M	566;495;495;201;19	ENSP00000349147:L566M;ENSP00000406492:L495M;ENSP00000359559:L495M;ENSP00000359565:L201M	ENSP00000349147:L566M	L	+	1	2	CNNM1	101107381	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.270000	0.43355	2.684000	0.91462	0.655000	0.94253	CTG	CNNM1	-	NULL	ENSG00000119946		0.473	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM1	HGNC	protein_coding	OTTHUMT00000049792.2	-	0	79	0	C	NM_020348		101117391	1	tier1	-	no_errors	ENST00000356713	ensembl	human	known	74_37	missense	18.75	65	15	SNP	1.000	A	A	101117391	C	A	101117391	3	1	87	1	0	0	0	0	1	0	0	0	3619	680	24	3	1702	3	CNNM1	10	101117391	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1098223	101117391	34417356	1061	24185											
ENTPD7	57089	genome.wustl.edu	37	chr10	101458440	101458440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtggggcaatgctgaGccccctgctggctcgctcca	4	10	13	14	1	1	1	0	1	1	0	3	1	2	1	3	3	3	5	3	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:101458440G>A	ENST00000370489.4	+	10	1338	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	387						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCAATGCTGAGCCCCCTGCTG	0.557																																																	0													100	89	93					10																	101458440		2203	4300	6503	SO:0001583	missense	0			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1160G>A	10.37:g.101458440G>A	ENSP00000359520:p.Ser387Asn		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.S387N	ENST00000370489.4	37	c.1160	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972206	0.34754	.	.	ENSG00000198018	ENST00000370489	T	0.11712	2.75	4.79	2.76	0.32466	.	0.509087	0.23048	N	0.052539	T	0.10423	0.0255	L	0.49778	1.585	0.29427	N	0.860121	B	0.26318	0.146	B	0.32583	0.148	T	0.13019	-1.0525	10	0.21540	T	0.41	-19.3297	6.9697	0.24642	0.3392:0.0:0.6608:0.0	.	387	Q9NQZ7	ENTP7_HUMAN	N	387	ENSP00000359520:S387N	ENSP00000359520:S387N	S	+	2	0	ENTPD7	101448430	0.943000	0.32029	1.000000	0.80357	0.941000	0.58515	0.675000	0.25232	1.245000	0.43885	0.655000	0.94253	AGC	ENTPD7	-	pfam_GDA1_CD39_NTPase	ENSG00000198018		0.557	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	-	0	60	0	G	NM_020354		101458440	1	tier1	-	no_errors	ENST00000370489	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.998	A	A	101458440	G	A	101458440	3	1	87	1	0	0	0	0	1	0	0	0	5160	971	34	3	1194	3	ENTPD7	10	101458440	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	341049	101458440	34076307	1062	24186											
SEC31B	25956	genome.wustl.edu	37	chr10	102256019	102256019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggccccacttacctgaGcacagtccctgggtagaaag	11	7	10	13	0	0	2	0	1	0	1	1	2	1	2	4	2	2	2	4	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:102256019G>A	ENST00000370345.3	-	18	2403	c.2306C>T	c.(2305-2307)gCt>gTt	p.A769V	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	769					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTTACCTGAGCACAGTCCCT	0.537																																																	0													86	74	78					10																	102256019		2203	4300	6503	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2306C>T	10.37:g.102256019G>A	ENSP00000359370:p.Ala769Val		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A769V	ENST00000370345.3	37	c.2306	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847882	0.51164	.	.	ENSG00000075826	ENST00000370345	T	0.53206	0.63	5.9	-0.794	0.10918	.	1.013270	0.07862	N	0.966459	T	0.38295	0.1035	L	0.55481	1.735	0.23568	N	0.9974	B;B	0.15719	0.014;0.008	B;B	0.25405	0.06;0.027	T	0.44050	-0.9353	10	0.51188	T	0.08	0.1152	0.7059	0.00916	0.2874:0.1047:0.2855:0.3224	.	768;769	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	V	769	ENSP00000359370:A769V	ENSP00000359370:A769V	A	-	2	0	SEC31B	102246009	0.875000	0.30112	0.941000	0.38009	0.936000	0.57629	0.787000	0.26858	-0.104000	0.12154	0.455000	0.32223	GCT	SEC31B	-	NULL	ENSG00000075826		0.537	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	-	0	41	0	G	NM_015490		102256019	-1	tier1	-	no_errors	ENST00000370345	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.462	A	A	102256019	G	A	102256019	3	1	87	1	0	0	0	0	1	0	0	0	14044	971	34	3	1269	3	SEC31B	10	102256019	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	797579	102256019	33278728	1063	24187											
HPS6	79803	genome.wustl.edu	37	chr10	103826900	103826900	+	Frame_Shift_Del	DEL	C	C	-																															gaataaccgctggaaaggaaCcccccaatggaatactgccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:103826900delC	ENST00000299238.5	+	1	1754	c.1669delC	c.(1669-1671)cccfs	p.P558fs		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	558					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TGGAAAGGAACCCCCCAATGG	0.587									Hermansky-Pudlak syndrome																																								0													64	62	63					10																	103826900		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1669delC	10.37:g.103826900delC	ENSP00000299238:p.Pro558fs		Q5VV69|Q9H685	Frame_Shift_Del	DEL	pirsf_BLOC-2_complex_Hps6_subunit	p.N559fs	ENST00000299238.5	37	c.1669	CCDS7527.1	10																																																																																			HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit	ENSG00000166189		0.587	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2		0	84	0	C	NM_024747		103826900	1	tier1		no_errors	ENST00000299238	ensembl	human	known	74_37	frame_shift_del	27.59	42	16	DEL	0.013	-	-	103826900	C	-	103826900	7	5	87	1	0	1	0	1	0	0	0	0	7370	507	18	0	1671	0	HPS6	10	103826900	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1570881	103826900	31707847	1064	24188											
CYP17A1	1586	genome.wustl.edu	37	chr10	104590640	104590640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggaagagctcctggCgggccaggatctcacctata	10	8	13	10	1	1	3	1	2	1	1	3	5	2	5	3	4	1	1	3	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:104590640C>T	ENST00000369887.3	-	8	1517	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	449					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GAGCTCCTGGCGGGCCAGGAT	0.602																																																	0													33	27	29					10																	104590640		2203	4297	6500	SO:0001583	missense	0			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"Cytochrome P450s"	2593	protein-coding gene	gene with protein product	"Steroid 17-alpha-monooxygenase"	609300	"cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1346G>A	10.37:g.104590640C>T	ENSP00000358903:p.Arg449His		Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R449H	ENST00000369887.3	37	c.1346	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838765	0.91117	.	.	ENSG00000148795	ENST00000369887	T	0.70516	-0.49	5.62	5.62	0.85841	.	0.095489	0.64402	D	0.000001	T	0.80221	0.4583	M	0.65677	2.01	0.41865	D	0.990249	D	0.89917	1.0	D	0.87578	0.998	T	0.81720	-0.0804	10	0.87932	D	0	.	7.7431	0.28853	0.0:0.8021:0.0:0.1979	.	449	P05093	CP17A_HUMAN	H	449	ENSP00000358903:R449H	ENSP00000358903:R449H	R	-	2	0	CYP17A1	104580630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.601000	0.67606	2.650000	0.89964	0.555000	0.69702	CGC	CYP17A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	ENSG00000148795		0.602	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	-	0	54	0	C	NM_000102		104590640	-1	tier1	-	no_errors	ENST00000369887	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	T	T	104590640	C	T	104590640	3	4	87	1	0	0	0	0	1	0	0	0	4156	768	27	1	184	1	CYP17A1	10	104590640	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	763740	104590640	30944107	1065	24189											
PDCD11	22984	genome.wustl.edu	37	chr10	105200521	105200521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaagccaaagaaagccGgcctgtcagaggaggacgac	15	2	14	10	2	1	3	1	0	0	3	1	6	1	5	3	3	2	1	3	3	4	0	rs542819088	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105200521G>A	ENST00000369797.3	+	30	4565	c.4471G>A	c.(4471-4473)Ggc>Agc	p.G1491S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1491					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAAGAAAGCCGGCCTGTCAGA	0.602													G|||	3	0.000599042	0	0	5008	,	,		17921	0		0	False		,,,				2504	0.0031																0													112	100	104					10																	105200521		2203	4300	6503	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4471G>A	10.37:g.105200521G>A	ENSP00000358812:p.Gly1491Ser		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.G1491S	ENST00000369797.3	37	c.4471	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008301	0.19199	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.09163	3.01	5.43	-0.41	0.12374	.	1.262890	0.04756	N	0.425450	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.36432	-0.9748	10	0.08179	T	0.78	-0.2734	1.1336	0.01750	0.2662:0.1895:0.4028:0.1414	.	1491	Q14690	RRP5_HUMAN	S	1491;1149	ENSP00000358812:G1491S	ENSP00000358812:G1491S	G	+	1	0	PDCD11	105190511	0.000000	0.05858	0.001000	0.08648	0.057000	0.15508	-0.217000	0.09253	0.087000	0.17167	-0.918000	0.02743	GGC	PDCD11	-	NULL	ENSG00000148843		0.602	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	-	0	47	0	G			105200521	1	tier1	-	no_errors	ENST00000369797	ensembl	human	known	74_37	missense	25.49	38	13	SNP	0.000	A	A	105200521	G	A	105200521	3	1	87	1	0	0	0	0	1	0	0	0	11656	1116	39	1	4585	1	PDCD11	10	105200521	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	609881	105200521	30334226	1066	24190											
CALHM2	51063	genome.wustl.edu	37	chr10	105209411	105209411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaggaaggtgggggcGgcggagcagttcttggtcct	8	7	20	6	2	1	1	0	0	1	1	2	4	2	4	1	8	1	2	1	8	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105209411G>A	ENST00000260743.5	-	3	811	c.288C>T	c.(286-288)gcC>gcT	p.A96A	RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000369788.3_Silent_p.A96A|CALHM2_ENST00000393235.1_Silent_p.A96A	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	96					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						AGGTGGGGGCGGCGGAGCAGT	0.617																																																	0													71	72	71					10																	105209411		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"family with sequence similarity 26, member B"	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.288C>T	10.37:g.105209411G>A			D3DR94|O95893|Q6ZUV9	Silent	SNP	NULL	p.A96	ENST00000260743.5	37	c.288	CCDS7549.1	10																																																																																			CALHM2	-	NULL	ENSG00000138172		0.617	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM2	HGNC	protein_coding	OTTHUMT00000050159.1	-	0	45	0	G	NM_015916		105209411	-1	tier1	-	no_errors	ENST00000260743	ensembl	human	known	74_37	silent	10.87	41	5	SNP	0.340	A	A	105209411	G	A	105209411	2	1	87	1	0	0	0	0	0	0	0	1	2590	1103	39	1		1	CALHM2	10	105209411	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	8890	105209411	30325336	1067	24191											
CALHM1	255022	genome.wustl.edu	37	chr10	105218338	105218338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaccaggggtggcgccagCaggatgcccgcgctgtaggc	7	4	17	13	3	0	0	0	0	0	0	0	1	0	1	3	5	3	4	3	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105218338C>T	ENST00000329905.5	-	1	307	c.171G>A	c.(169-171)ctG>ctA	p.L57L	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	57					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GTGGCGCCAGCAGGATGCCCG	0.652																																																	0													45	51	49					10																	105218338		2203	4300	6503	SO:0001819	synonymous_variant	0			BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"family with sequence similarity 26, member C"	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.171G>A	10.37:g.105218338C>T			Q5W091	Silent	SNP	NULL	p.L57	ENST00000329905.5	37	c.171	CCDS7550.1	10																																																																																			CALHM1	-	NULL	ENSG00000185933		0.652	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM1	HGNC	protein_coding	OTTHUMT00000050165.1	-	0	95	0	C	NM_001001412		105218338	-1	tier1	-	no_errors	ENST00000329905	ensembl	human	known	74_37	silent	11.90	74	10	SNP	0.999	T	T	105218338	C	T	105218338	2	4	87	1	0	0	0	0	0	0	0	1	2589	697	25	3		3	CALHM1	10	105218338	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	8927	105218338	30316409	1068	24192											
SH3PXD2A	9644	genome.wustl.edu	37	chr10	105362131	105362131	+	Frame_Shift_Del	DEL	G	G	-																															ccgggaggtttggaggggatGgggggcgtggccttcttgct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:105362131delG	ENST00000369774.4	-	15	3120	c.2844delC	c.(2842-2844)cccfs	p.P948fs	SH3PXD2A_ENST00000538130.1_Frame_Shift_Del_p.P783fs|SH3PXD2A_ENST00000540321.1_Frame_Shift_Del_p.P815fs|SH3PXD2A_ENST00000355946.2_Frame_Shift_Del_p.P920fs|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	948					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TGGAGGGGATGGGGGGCGTGG	0.637																																																	0													83	77	79					10																	105362131		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"five SH3 domains"		"SH3 multiple domains 1"	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.2844delC	10.37:g.105362131delG	ENSP00000358789:p.Pro948fs		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.I949fs	ENST00000369774.4	37	c.2844		10																																																																																			SH3PXD2A	-	NULL	ENSG00000107957		0.637	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1		0	9	0	G	NM_014631		105362131	-1			no_errors	ENST00000369774	ensembl	human	known	74_37	frame_shift_del	33.33	10	5	DEL	1.000	0	-	105362131	G	-	105362131	7	5	87	1	0	1	0	1	0	0	0	0	14301	1335	47	0	561	0	SH3PXD2A	10	105362131	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	143793	105362131	30172616	1069	24193											
SORCS1	114815	genome.wustl.edu	37	chr10	108923780	108923780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggttgtgtgctgagtctcCcgtcagcgcaaacgtggtgc	5	12	14	10	3	2	1	1	1	1	0	3	1	2	1	1	2	4	3	1	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:108923780C>T	ENST00000263054.6	-	1	512	c.505G>A	c.(505-507)Gga>Aga	p.G169R	SORCS1_ENST00000344440.6_Missense_Mutation_p.G169R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	169					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCTGAGTCTCCCGTCAGCGCA	0.612																																																	0													83	72	76					10																	108923780		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.505G>A	10.37:g.108923780C>T	ENSP00000263054:p.Gly169Arg		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G169R	ENST00000263054.6	37	c.505	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057800	0.76074	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.34275	1.37;1.37	5.16	5.16	0.70880	.	0.089626	0.44483	D	0.000443	T	0.40886	0.1135	L	0.38175	1.15	0.48632	D	0.999681	P;P;P;P;P	0.51653	0.912;0.947;0.867;0.79;0.785	B;P;P;P;B	0.51135	0.329;0.65;0.66;0.459;0.408	T	0.06481	-1.0824	9	.	.	.	-5.6549	17.3761	0.87392	0.0:1.0:0.0:0.0	.	169;169;169;169;169	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	169	ENSP00000263054:G169R;ENSP00000345964:G169R	.	G	-	1	0	SORCS1	108913770	0.999000	0.42202	0.801000	0.32222	0.514000	0.34195	6.876000	0.75556	2.666000	0.90696	0.655000	0.94253	GGA	SORCS1	-	NULL	ENSG00000108018		0.612	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	44	0	C	NM_052918		108923780	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	33.33	26	13	SNP	0.994	T	T	108923780	C	T	108923780	3	4	87	1	0	0	0	0	1	0	0	0	14975	632	22	3	3339	3	SORCS1	10	108923780	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3561649	108923780	26610967	1070	24194											
ADD3	120	genome.wustl.edu	37	chr10	111884031	111884031	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccccgaaccaaaatcaCggtatgccagtattttatgt	12	11	7	11	2	1	0	1	0	0	0	2	1	2	0	4	1	2	2	4	1	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:111884031C>T	ENST00000356080.4	+	10	1767	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	ADD3_ENST00000360162.3_Splice_Site_p.T467M|ADD3_ENST00000277900.8_Splice_Site_p.T467M	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	467						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACCAAAATCACGGTATGCCAG	0.358																																																	0													80	79	79					10																	111884031		2203	4300	6503	SO:0001630	splice_region_variant	0			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1401+1C>T	10.37:g.111884031C>T			D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T467M	ENST00000356080.4	37	c.1400	CCDS7561.1	10	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715728	0.68844	.	.	ENSG00000148700	ENST00000360162;ENST00000356080;ENST00000277900	T;T;T	0.18810	2.19;2.19;2.19	6.03	6.03	0.97812	.	0.219529	0.46758	D	0.000280	T	0.25121	0.0610	N	0.20845	0.615	0.80722	D	1	P;D	0.59357	0.809;0.985	B;P	0.50082	0.11;0.63	T	0.00731	-1.1590	10	0.51188	T	0.08	-14.457	20.5568	0.99304	0.0:1.0:0.0:0.0	.	467;467	Q9UEY8;Q9UEY8-2	ADDG_HUMAN;.	M	467	ENSP00000353286:T467M;ENSP00000348381:T467M;ENSP00000277900:T467M	ENSP00000277900:T467M	T	+	2	0	ADD3	111874021	0.998000	0.40836	1.000000	0.80357	0.880000	0.50808	2.678000	0.46900	2.861000	0.98227	0.655000	0.94253	ACG	ADD3	-	NULL	ENSG00000148700		0.358	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	-	0	39	0	C	NM_019903	Missense_Mutation	111884031	1	tier1	-	no_errors	ENST00000356080	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T	T	111884031	C	T	111884031	5	4	87	1	0	0	0	0	0	0	1	0	306	550	19	1	1434	1	ADD3	10	111884031	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2960251	111884031	23650716	1071	24195											
ADRA2A	150	genome.wustl.edu	37	chr10	112837856	112837856	+	Frame_Shift_Del	DEL	G	G	-																															tggaacgggaccgaggcgccGgggggcggcgcccgggccac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:112837856delG	ENST00000280155.2	+	1	1067	c.102delG	c.(100-102)ccgfs	p.P34fs		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	19					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.G22fs*>430(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGAggcgccggggggcggcg	0.726																																					Esophageal Squamous(173;605 2658 7278 49362)												1	Insertion - Frameshift(1)	large_intestine(1)								15,4101		0,15,2043	8	9	9			3.7	1	10		8	36,7974		1,34,3970	no	frameshift	ADRA2A	NM_000681.3		1,49,6013	A1A1,A1R,RR		0.4494,0.3644,0.4206			112837856	51,12075	2149	4208	6357	SO:0001589	frameshift_variant	0			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.102delG	10.37:g.112837856delG	ENSP00000280155:p.Pro34fs		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt	p.G36fs	ENST00000280155.2	37	c.102	CCDS7569.2	10																																																																																			ADRA2A	-	prints_ADRA2A_rcpt	ENSG00000150594		0.726	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2		0	27	0	G	NM_000681		112837856	1	tier1		no_errors	ENST00000280155	ensembl	human	known	74_37	frame_shift_del	34.78	15	8	DEL	0.354	-	-	112837856	G	-	112837856	7	5	87	1	0	1	0	1	0	0	0	0	337	1103	39	0	104	0	ADRA2A	10	112837856	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	953825	112837856	22696891	1072	24196											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115609832	115609832	+	Frame_Shift_Del	DEL	A	A	-																															aagggaccatgtcgttttttAaaaaaaccacagctgtcatc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:115609832delA	ENST00000361384.2	-	2	1949	c.1032delT	c.(1030-1032)tttfs	p.F344fs	DCLRE1A_ENST00000369305.1_Frame_Shift_Del_p.F344fs	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	344					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTCGTTTTTTAAAAAAACCAC	0.408								Other identified genes with known or suspected DNA repair function																																									0													106	107	107					10																	115609832		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1032delT	10.37:g.115609832delA	ENSP00000355185:p.Phe344fs		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Frame_Shift_Del	DEL	pfam_DRMBL	p.F344fs	ENST00000361384.2	37	c.1032	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL	ENSG00000198924		0.408	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0	42	0	A	NM_014881		115609832	-1	tier1		no_errors	ENST00000361384	ensembl	human	known	74_37	frame_shift_del	26.32	42	15	DEL	0.000	-	-	115609832	A	-	115609832	7	5	87	1	0	1	0	1	0	0	0	0	4303	359	13	0	2122	0	DCLRE1A	10	115609832	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	2771976	115609832	19924915	1073	24197											
VWA2	340706	genome.wustl.edu	37	chr10	116013454	116013454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtccatgtaagcaaagaaAccatcgggaagatttcagct	16	8	9	8	1	1	2	1	0	0	2	3	3	2	3	2	1	3	3	2	1	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:116013454A>G	ENST00000392982.3	+	3	347	c.97A>G	c.(97-99)Acc>Gcc	p.T33A	VWA2_ENST00000603594.1_Missense_Mutation_p.T33A			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	33					calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AAGCAAAGAAACCATCGGGAA	0.512																																																	0													163	176	172					10																	116013454		2202	4299	6501	SO:0001583	missense	0			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.97A>G	10.37:g.116013454A>G	ENSP00000376708:p.Thr33Ala		A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.T33A	ENST00000392982.3	37	c.97		10	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400074	0.42613	.	.	ENSG00000165816	ENST00000392982;ENST00000298715	T	0.68025	-0.3	4.86	4.86	0.63082	.	0.131175	0.51477	D	0.000086	T	0.61813	0.2377	M	0.65498	2.005	0.26790	N	0.969429	P;P	0.46142	0.682;0.873	B;B	0.44044	0.188;0.439	T	0.58973	-0.7541	10	0.02654	T	1	.	11.9899	0.53169	1.0:0.0:0.0:0.0	.	33;33	Q5GFL6;Q5GFL6-2	VWA2_HUMAN;.	A	33	ENSP00000376708:T33A	ENSP00000298715:T33A	T	+	1	0	VWA2	116003444	1.000000	0.71417	0.708000	0.30435	0.016000	0.09150	5.629000	0.67798	1.835000	0.53391	0.523000	0.50628	ACC	VWA2	-	NULL	ENSG00000165816		0.512	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	-	0	70	0	A	NM_198496		116013454	1	tier1	-	no_errors	ENST00000392982	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	G	G	116013454	A	G	116013454	3	3	87	1	0	0	0	0	1	0	0	0	17288	43	2	4	103	4	VWA2	10	116013454	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	403622	116013454	19521293	1074	24198											
FAM160B1	57700	genome.wustl.edu	37	chr10	116621264	116621264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggagctggcggcaatcGcatttgtaaaatatcatgct	12	11	11	7	2	1	0	1	0	0	0	2	1	1	1	0	3	2	6	0	3	5	4	rs138422469		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:116621264G>A	ENST00000369248.4	+	17	2598	c.2263G>A	c.(2263-2265)Gca>Aca	p.A755T	FAM160B1_ENST00000369250.3_Intron	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	755										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GGCGGCAATCGCATTTGTAAA	0.393																																																	0													119	107	111					10																	116621264		2203	4300	6503	SO:0001583	missense	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.2263G>A	10.37:g.116621264G>A	ENSP00000358251:p.Ala755Thr		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.A755T	ENST00000369248.4	37	c.2263	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.451765	0.96205	.	.	ENSG00000151553	ENST00000369248	T	0.53640	0.61	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.67700	2.07	0.80722	D	1	D	0.76494	0.999	P	0.53450	0.726	T	0.64597	-0.6370	10	0.72032	D	0.01	-22.2956	20.3495	0.98807	0.0:0.0:1.0:0.0	.	755	Q5W0V3	F16B1_HUMAN	T	755	ENSP00000358251:A755T	ENSP00000358251:A755T	A	+	1	0	FAM160B1	116611254	1.000000	0.71417	0.726000	0.30738	0.963000	0.63663	9.827000	0.99397	2.814000	0.96858	0.591000	0.81541	GCA	FAM160B1	-	NULL	ENSG00000151553		0.393	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1		0	41	0	G	XM_049351		116621264	1			no_errors	ENST00000369248	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	A	A	116621264	G	A	116621264	3	1	87	1	0	0	0	0	1	0	0	0	5489	1087	38	1	2329	1	FAM160B1	10	116621264	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	607810	116621264	18913483	1075	24199											
ATRNL1	26033	genome.wustl.edu	37	chr10	117486834	117486837	+	Frame_Shift_Del	DEL	AACA	AACA	-																															agctctggaagtgggagctgAacaaacagagtttctgcgag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AACA	AACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:117486834_117486837delAACA	ENST00000355044.3	+	27	3998_4001	c.3872_3875delAACA	c.(3871-3876)gaacaafs	p.EQ1291fs	ATRNL1_ENST00000423111.2_Frame_Shift_Del_p.EQ342fs|ATRNL1_ENST00000303745.7_Frame_Shift_Del_p.EQ84fs	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1291					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTGGGAGCTGAACAAACAGAGTTT	0.466																																																	0																																										SO:0001589	frameshift_variant	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3872_3875delAACA	10.37:g.117486838_117486841delAACA	ENSP00000347152:p.Glu1291fs		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.T1293fs	ENST00000355044.3	37	c.3872_3875	CCDS7592.1	10																																																																																			ATRNL1	-	NULL	ENSG00000107518		0.466	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0	48	0	AACA	XM_049349		117486837	1	tier1		no_errors	ENST00000355044	ensembl	human	known	74_37	frame_shift_del	24.49	37	12	DEL	1.000:1.000:1.000:1.000	-	-	117486837	AACA	-	117486834	7	5	87	1	0	1	0	1	0	0	0	0	1208	246	9	0	3978	0	ATRNL1	10	117486834	Frame_Shift_Del	DEL	AACA	TCGA-L5-A8NM-01A-11D-A37C-09	865570	117486834	18047913	1076	24200											
PNLIPRP1	5407	genome.wustl.edu	37	chr10	118368594	118368594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcgaagacacagtgcGggaagacacgctgctcaccc	11	5	12	13	3	1	2	1	0	0	2	1	4	1	3	1	1	3	3	1	1	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:118368594G>T	ENST00000528052.1	+	13	1441	c.1370G>T	c.(1369-1371)cGg>cTg	p.R457L	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R457L|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R457L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	457	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GACACAGTGCGGGAAGACACG	0.512																																																	0													119	110	113					10																	118368594		2203	4300	6503	SO:0001583	missense	0			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1370G>T	10.37:g.118368594G>T	ENSP00000433933:p.Arg457Leu		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.R457L	ENST00000528052.1	37	c.1370	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	-	11.41	1.629923	0.28978	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.64991	-0.13;-0.13;-0.13	5.13	0.362	0.16113	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.278041	0.35320	N	0.003300	T	0.62122	0.2402	M	0.83223	2.63	0.80722	D	1	P	0.37688	0.605	B	0.38954	0.286	T	0.62695	-0.6800	10	0.59425	D	0.04	-8.6081	9.1038	0.36685	0.4014:0.0:0.5986:0.0	.	457	P54315	LIPR1_HUMAN	L	457	ENSP00000351695:R457L;ENSP00000433933:R457L;ENSP00000434159:R457L	ENSP00000351695:R457L	R	+	2	0	PNLIPRP1	118358584	0.434000	0.25570	0.598000	0.28837	0.001000	0.01503	-0.059000	0.11731	0.146000	0.19002	-0.150000	0.13652	CGG	PNLIPRP1	-	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc	ENSG00000187021		0.512	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	-	0	37	0	G	NM_006229		118368594	1	tier1	-	no_errors	ENST00000358834	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.980	T	T	118368594	G	T	118368594	3	4	87	1	0	0	0	0	1	0	0	0	12189	1116	39	2	1416	2	PNLIPRP1	10	118368594	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	881760	118368594	17166153	1077	24201											
VAX1	11023	genome.wustl.edu	37	chr10	118896029	118896029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagctcggtcctctcgCggcccaccacgtactggcag	5	6	14	16	5	1	0	0	0	1	0	4	1	2	0	3	4	2	3	3	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:118896029C>T	ENST00000369206.5	-	2	382	c.383G>A	c.(382-384)cGc>cAc	p.R128H	VAX1_ENST00000277905.2_Missense_Mutation_p.R128H	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	128					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GGTCCTCTCGCGGCCCACCAC	0.667																																																	0													38	38	38					10																	118896029		2203	4300	6503	SO:0001583	missense	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"Homeoboxes / ANTP class : NKL subclass"	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.383G>A	10.37:g.118896029C>T	ENSP00000358207:p.Arg128His		B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.R128H	ENST00000369206.5	37	c.383	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298231	0.60195	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96168	-3.93;-3.93	3.88	2.93	0.34026	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93363	0.7884	N	0.05441	-0.05	0.49213	D	0.999769	D;D	0.76494	0.999;0.998	D;D	0.64595	0.927;0.917	D	0.93471	0.6819	10	0.59425	D	0.04	-3.8859	13.0556	0.58977	0.0:0.8368:0.1632:0.0	.	128;128	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	H	128	ENSP00000277905:R128H;ENSP00000358207:R128H	ENSP00000277905:R128H	R	-	2	0	VAX1	118886019	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	5.572000	0.67411	0.786000	0.33708	0.455000	0.32223	CGC	VAX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000148704		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	-	0	102	0	C	XM_301242		118896029	-1	tier1	-	no_errors	ENST00000369206	ensembl	human	known	74_37	missense	36.47	54	31	SNP	1.000	T	T	118896029	C	T	118896029	3	4	87	1	0	0	0	0	1	0	0	0	17183	768	27	1	769	1	VAX1	10	118896029	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	527435	118896029	16638718	1078	24202											
RAB11FIP2	22841	genome.wustl.edu	37	chr10	119768615	119768615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgtcgatgtagtccTcgagttcccggatgtgggtg	5	12	17	7	3	0	0	0	0	0	0	4	4	2	2	2	4	0	3	2	4	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:119768615T>C	ENST00000355624.3	-	5	1872	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G	RAB11FIP2_ENST00000476207.1_5'UTR|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E498G	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	478	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for the interaction with AP2A1, RAB11A, subcellular location, endocytosis activity and homooligomerization.				establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GATGTAGTCCTCGAGTTCCCG	0.483																																																	0													190	185	187					10																	119768615		2203	4300	6503	SO:0001583	missense	0			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1433A>G	10.37:g.119768615T>C	ENSP00000347839:p.Glu478Gly		A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E498G	ENST00000355624.3	37	c.1493	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717468	0.89205	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;D	0.81821	-1.48;-1.54	5.16	5.16	0.70880	Rab-binding domain FIP-RBD (2);	0.048027	0.85682	D	0.000000	D	0.89118	0.6624	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90533	0.4497	10	0.87932	D	0	-7.7312	15.2742	0.73728	0.0:0.0:0.0:1.0	.	498;478	Q3I768;Q7L804	.;RFIP2_HUMAN	G	478;498	ENSP00000347839:E478G;ENSP00000358200:E498G	ENSP00000347839:E478G	E	-	2	0	RAB11FIP2	119758605	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	7.594000	0.82698	2.067000	0.61834	0.482000	0.46254	GAG	RAB11FIP2	-	pfam_Rab-bd_FIP-RBD	ENSG00000107560		0.483	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	-	0	44	0	T	NM_014904		119768615	-1	tier1	-	no_errors	ENST00000369199	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	C	C	119768615	T	C	119768615	3	2	87	1	0	0	0	0	1	0	0	0	12939	1551	54	4	109	4	RAB11FIP2	10	119768615	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	872586	119768615	15766132	1079	24203											
INPP5F	22876	genome.wustl.edu	37	chr10	121556338	121556339	+	Frame_Shift_Ins	INS	-	-	C																															tgagaaaagcagcccagagaINSccccccctcaggagtccacc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:121556338_121556339insC	ENST00000361976.2	+	7	947_948	c.781_782insC	c.(781-783)accfs	p.T261fs	INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.T261fs	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAGCCCAGAGACCCCCCCTCAG	0.48																																																	0										4,4260		0,4,2128						5.8	1			82	0,8254		0,0,4127	no	frameshift	INPP5F	NM_014937.3		0,4,6255	A1A1,A1R,RR		0.0,0.0938,0.032				4,12514				SO:0001589	frameshift_variant	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.788dupC	10.37:g.121556345_121556345dupC	ENSP00000354519:p.Thr261fs		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Frame_Shift_Ins	INS	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.Q264fs	ENST00000361976.2	37	c.781_782	CCDS7616.1	10																																																																																			INPP5F	-	pfam_Syja_N,pfscan_Syja_N	ENSG00000198825		0.48	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1		0	69	0	-	NM_014937		121556339	1	tier1		no_errors	ENST00000361976	ensembl	human	known	74_37	frame_shift_ins	32.31	44	21	INS	1.000:1.000	C	C	121556339	-	C	121556338	7	5	87	1	0	1	1	0	0	0	0	0	7785	275	10	0	807	0	INPP5F	10	121556338	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1787723	121556338	13978409	1080	24204											
FGFR2	2263	genome.wustl.edu	37	chr10	123279622	123279622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaactctacgtctcctccGaccactgtggaggcatttgc	9	10	8	14	2	2	0	0	0	2	0	4	2	3	1	3	2	3	1	3	2	2	2	rs150488750	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:123279622G>A	ENST00000358487.5	-	7	1082	c.810C>T	c.(808-810)gtC>gtT	p.V270V	FGFR2_ENST00000457416.2_Silent_p.V270V|FGFR2_ENST00000369056.1_Silent_p.V270V|FGFR2_ENST00000346997.2_Silent_p.V270V|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Silent_p.V181V|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000351936.6_Silent_p.V270V|FGFR2_ENST00000357555.5_Silent_p.V181V|FGFR2_ENST00000356226.4_Silent_p.V155V|FGFR2_ENST00000369059.1_Silent_p.V155V|FGFR2_ENST00000478859.1_Silent_p.V42V|FGFR2_ENST00000369060.4_Silent_p.V270V	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	270	Ig-like C2-type 3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CGTCTCCTCCGACCACTGTGG	0.587		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0								G	,,,,,,,,	2,4404	4.2+/-10.8	0,2,2201	95	81	85		810,810,,543,465,810,465,543,810	-4.8	0.7	10	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	,,,,,,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,,,,,,	270/822,270/770,,181/708,155/707,270/706,155/705,181/681,270/823	123279622	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.810C>T	10.37:g.123279622G>A			B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V270	ENST00000358487.5	37	c.810	CCDS31298.1	10																																																																																			FGFR2	-	pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000066468		0.587	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	-	0	71	0	G	NM_022976, NM_000141		123279622	-1	tier1	rs150488750	no_errors	ENST00000457416	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.032	A	A	123279622	G	A	123279622	2	1	87	1	0	0	0	0	0	0	0	1	5888	1045	37	1		1	FGFR2	10	123279622	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1723284	123279622	12255125	1081	24205											
CHST15	51363	genome.wustl.edu	37	chr10	125804220	125804220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctatgatgtagaagtgCggcaggcagcgcaggcggaa	10	6	16	9	3	0	2	0	1	0	1	0	3	0	3	1	4	3	4	1	4	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:125804220C>T	ENST00000346248.5	-	3	1404	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_ENST00000421115.1_Silent_p.P254P|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Silent_p.P254P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	254					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657																																																	0													43	44	44					10																	125804220		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.762G>A	10.37:g.125804220C>T			O60338|O60474|Q86VM4	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P254	ENST00000346248.5	37	c.762	CCDS7638.1	10																																																																																			CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.657	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	-	0	29	0	C	NM_015892		125804220	-1	tier1	-	no_errors	ENST00000346248	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.058	T	T	125804220	C	T	125804220	2	4	87	1	0	0	0	0	0	0	0	1	3410	755	27	1		1	CHST15	10	125804220	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2524598	125804220	9730527	1082	24206											
FAM53B	9679	genome.wustl.edu	37	chr10	126370628	126370628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttggaatagcgctggaCgctgcccccgctgtagcagc	6	7	14	14	4	0	0	0	0	0	0	0	2	0	2	3	2	4	6	3	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:126370628C>T	ENST00000337318.3	-	4	665	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Missense_Mutation_p.V152I|FAM53B_ENST00000280780.6_Missense_Mutation_p.V152I	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	152								p.V152I(1)		cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TAGCGCTGGACGCTGCCCCCG	0.617																																																	1	Substitution - Missense(1)	lung(1)											33	33	33					10																	126370628		2203	4300	6503	SO:0001583	missense	0			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"KIAA0140"	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.454G>A	10.37:g.126370628C>T	ENSP00000338532:p.Val152Ile		D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	NULL	p.V152I	ENST00000337318.3	37	c.454	CCDS7641.1	10	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186872	0.78789	.	.	ENSG00000189319	ENST00000337318;ENST00000392754;ENST00000280780	T;T;T	0.52526	0.66;0.66;0.66	4.98	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.65975	2.015	0.48341	D	0.999634	P;P;P	0.45283	0.58;0.855;0.58	B;B;B	0.29942	0.109;0.109;0.109	T	0.48456	-0.9034	10	0.54805	T	0.06	-10.8286	12.0078	0.53270	0.0:0.9201:0.0:0.0799	.	152;152;152	Q14153-2;Q14153;B3KMZ2	.;FA53B_HUMAN;.	I	152	ENSP00000338532:V152I;ENSP00000376509:V152I;ENSP00000280780:V152I	ENSP00000280780:V152I	V	-	1	0	FAM53B	126360618	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	5.798000	0.69095	1.466000	0.48025	0.655000	0.94253	GTC	FAM53B	-	NULL	ENSG00000189319		0.617	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53B	HGNC	protein_coding	OTTHUMT00000050879.1	-	0	32	0	C	NM_014661		126370628	-1	tier1	-	no_errors	ENST00000337318	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	T	T	126370628	C	T	126370628	3	4	87	1	0	0	0	0	1	0	0	0	5602	536	19	1	822	1	FAM53B	10	126370628	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	566408	126370628	9164119	1083	24207											
C10orf90	118611	genome.wustl.edu	37	chr10	128193531	128193531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcttggcgtgatgtgcacGagactgagcaatggcacacg	9	9	14	9	3	0	3	0	2	0	1	0	4	0	3	0	2	3	4	0	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:128193531G>A	ENST00000284694.7	-	3	358	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	C10orf90_ENST00000356858.3_Missense_Mutation_p.R33C|C10orf90_ENST00000544758.1_Missense_Mutation_p.R177C|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.R80C|C10orf90_ENST00000392694.1_Missense_Mutation_p.R33C	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	80					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGATGTGCACGAGACTGAGCA	0.498																																																	0													150	124	133					10																	128193531		2203	4300	6503	SO:0001583	missense	0			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"fragile-site associated tumor suppressor"					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.238C>T	10.37:g.128193531G>A	ENSP00000284694:p.Arg80Cys		B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	NULL	p.R177C	ENST00000284694.7	37	c.529	CCDS31310.1	10	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632657	0.47049	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642;ENST00000368674;ENST00000392694	T;T;T;T;T	0.23552	2.22;2.22;2.22;2.22;1.9	4.15	-0.314	0.12750	.	2.065870	0.02049	N	0.049907	T	0.29158	0.0725	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D	0.71674	0.996;0.998;0.996;0.996;0.996	P;P;P;P;P	0.51324	0.648;0.666;0.648;0.648;0.648	T	0.28839	-1.0031	10	0.87932	D	0	1.5929	7.3821	0.26862	0.0:0.2584:0.229:0.5126	.	177;177;33;80;80	F5GZL2;B4DMQ6;Q5T024;Q96M02;Q96M02-2	.;.;.;CJ090_HUMAN;.	C	33;80;80;177;80;33;33	ENSP00000284694:R80C;ENSP00000398786:R80C;ENSP00000444369:R177C;ENSP00000405995:R80C;ENSP00000376459:R33C	ENSP00000284694:R80C	R	-	1	0	C10orf90	128183521	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.209000	0.09358	0.060000	0.16281	0.561000	0.74099	CGT	C10orf90	-	NULL	ENSG00000154493		0.498	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf90	HGNC	protein_coding		-	0	31	0	G	NM_001004298		128193531	-1	tier1	-	no_errors	ENST00000544758	ensembl	human	known	74_37	missense	17.50	33	7	SNP	0.000	A	A	128193531	G	A	128193531	3	1	87	1	0	0	0	0	1	0	0	0	1628	1058	37	1	1889	1	C10orf90	10	128193531	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1822903	128193531	7341216	1084	24208											
DOCK1	1793	genome.wustl.edu	37	chr10	129242496	129242496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgtcctcccagcaaacacCccctccagttacaccaaggg	11	5	6	19	1	0	0	0	0	0	0	3	0	3	0	7	1	3	2	7	1	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:129242496C>T	ENST00000280333.6	+	50	5412	c.5303C>T	c.(5302-5304)cCc>cTc	p.P1768L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1768					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGCAAACACCCCCTCCAGTT	0.597																																																	0													88	101	97					10																	129242496		2098	4213	6311	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5303C>T	10.37:g.129242496C>T	ENSP00000280333:p.Pro1768Leu		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.P1768L	ENST00000280333.6	37	c.5303		10	.	.	.	.	.	.	.	.	.	.	C	12.23	1.874398	0.33069	.	.	ENSG00000150760	ENST00000280333	T	0.03745	3.82	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.14485	0.0350	M	0.63843	1.955	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.21177	-1.0253	10	0.15952	T	0.53	.	17.8963	0.88890	0.0:1.0:0.0:0.0	.	1768;1768	B2RUU3;Q14185	.;DOCK1_HUMAN	L	1768	ENSP00000280333:P1768L	ENSP00000280333:P1768L	P	+	2	0	DOCK1	129132486	1.000000	0.71417	0.144000	0.22314	0.066000	0.16364	7.048000	0.76606	2.456000	0.83038	0.655000	0.94253	CCC	DOCK1	-	NULL	ENSG00000150760		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0	38	0	C	NM_001380		129242496	1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	11.11	40	5	SNP	0.997	T	T	129242496	C	T	129242496	3	4	87	1	0	0	0	0	1	0	0	0	4698	623	22	3	5501	3	DOCK1	10	129242496	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1048965	129242496	6292251	1085	24209											
BNIP3	664	genome.wustl.edu	37	chr10	133787443	133787443	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtgcagttctacccaGgagcctgatggggacaaaaa	13	7	12	9	0	1	2	0	2	1	0	1	4	1	4	2	3	3	2	2	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:133787443G>T	ENST00000368636.4	-	2	175	c.51C>A	c.(49-51)tcC>tcA	p.S17S	BNIP3_ENST00000540159.1_Silent_p.S17S	NM_004052.2	NP_004043.2	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	17					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|brown fat cell differentiation (GO:0050873)|cell death (GO:0008219)|cellular response to cobalt ion (GO:0071279)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|intrinsic apoptotic signaling pathway in response to hypoxia (GO:1990144)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrial protein catabolic process (GO:0035694)|negative regulation of apoptotic process (GO:0043066)|negative regulation of membrane potential (GO:0045837)|negative regulation of mitochondrial fusion (GO:0010637)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane permeability (GO:0046902)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase binding (GO:0051020)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCTACCCAGGAGCCTGATG	0.493																																																	0													48	53	51					10																	133787443		2203	4300	6503	SO:0001819	synonymous_variant	0			U15174	CCDS7663.1	10q26.3	2003-11-05	2002-08-29		ENSG00000176171	ENSG00000176171			1084	protein-coding gene	gene with protein product		603293	"BCL2/adenovirus E1B 19kD-interacting protein 3"			7954800	Standard	NM_004052		Approved	Nip3	uc001lkv.1	Q12983	OTTHUMG00000019278	ENST00000368636.4:c.51C>A	10.37:g.133787443G>T			O14620|Q96GP0	Silent	SNP	pfam_BNIP3	p.S17	ENST00000368636.4	37	c.51	CCDS7663.1	10																																																																																			BNIP3	-	pfam_BNIP3	ENSG00000176171		0.493	BNIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNIP3	HGNC	protein_coding	OTTHUMT00000051039.1	-	0	74	0	G			133787443	-1	tier1	-	no_errors	ENST00000368636	ensembl	human	known	74_37	silent	42.11	33	24	SNP	1.000	T	T	133787443	G	T	133787443	2	4	87	1	0	0	0	0	0	0	0	1	1480	987	35	3		3	BNIP3	10	133787443	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4544947	133787443	1747304	1086	24210											
DPYSL4	10570	genome.wustl.edu	37	chr10	134013961	134013961	+	Frame_Shift_Del	DEL	C	C	-																															ccgcagccttcgtcacatcaCcccctgtcaacccagacccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:134013961delC	ENST00000338492.4	+	9	1077	c.913delC	c.(913-915)cccfs	p.P306fs	DPYSL4_ENST00000368629.1_Frame_Shift_Del_p.P206fs|DPYSL4_ENST00000368627.1_Frame_Shift_Del_p.P206fs	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	306					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGTCACATCACCCCCTGTCAA	0.662																																																	0													130	114	119					10																	134013961		2203	4300	6503	SO:0001589	frameshift_variant	0			AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.913delC	10.37:g.134013961delC	ENSP00000339850:p.Pro306fs		B2RMQ1|D3DRG5|O00240|Q5T0Q7	Frame_Shift_Del	DEL	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.P306fs	ENST00000338492.4	37	c.913	CCDS7665.1	10																																																																																			DPYSL4	-	pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000151640		0.662	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL4	HGNC	protein_coding	OTTHUMT00000051050.2		0	76	0	C			134013961	1	tier1		no_errors	ENST00000338492	ensembl	human	known	74_37	frame_shift_del	19.74	61	15	DEL	1.000	-	-	134013961	C	-	134013961	7	5	87	1	0	1	0	1	0	0	0	0	4763	507	18	0	947	0	DPYSL4	10	134013961	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	226518	134013961	1520786	1087	24211											
GPR123	84435	genome.wustl.edu	37	chr10	134912169	134912169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatcagccgcaagggcCggcacacgctcctgaatttc	8	7	10	16	4	1	1	1	1	0	0	4	1	3	1	4	2	1	4	4	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:134912169C>T	ENST00000392607.3	+	4	593	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	GPR123_ENST00000607359.1_Missense_Mutation_p.R773W	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	53					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCGCAAGGGCCGGCACACGCT	0.652																																																	0													66	61	63					10																	134912169		2203	4300	6503	SO:0001583	missense	0			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"-", "GPCR / Class B : Orphans"	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.157C>T	10.37:g.134912169C>T	ENSP00000376384:p.Arg53Trp		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.R773W	ENST00000392607.3	37	c.2317	CCDS41580.1	10	.	.	.	.	.	.	.	.	.	.	C	0.201	-1.044629	0.01997	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.42900	0.96	4.35	0.786	0.18590	GPCR, family 2-like (1);	0.297719	0.24289	N	0.039838	T	0.14787	0.0357	N	0.03903	-0.33	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.09377	0.001;0.004	T	0.04870	-1.0921	10	0.33141	T	0.24	-43.4564	2.3199	0.04207	0.2254:0.4075:0.0:0.367	.	53;773	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	W	773;773;53	ENSP00000376384:R53W	ENSP00000357566:R773W	R	+	1	2	GPR123	134762159	0.998000	0.40836	0.917000	0.36280	0.223000	0.24884	2.189000	0.42621	0.379000	0.24794	-0.137000	0.14449	CGG	GPR123	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000197177		0.652	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2	-	0	89	0	C			134912169	1	tier1	-	no_errors	ENST00000607359	ensembl	human	putative	74_37	missense	35.90	50	28	SNP	0.999	T	T	134912169	C	T	134912169	3	4	87	1	0	0	0	0	1	0	0	0	6663	643	23	1	167	1	GPR123	10	134912169	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	898208	134912169	622578	1088	24212											
PRAP1	118471	genome.wustl.edu	37	chr10	135165862	135165862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaccagggcgaggagaGgccccggttgtgggtgatgc	7	5	21	8	2	0	2	0	1	0	1	0	6	0	4	3	7	1	1	3	7	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr10:135165862G>T	ENST00000433452.2	+	5	646	c.374G>T	c.(373-375)aGg>aTg	p.R125M	PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000423766.1_Missense_Mutation_p.R126M|FUOM_ENST00000465384.1_5'Flank|RP11-122K13.7_ENST00000452591.1_RNA|ZNF511_ENST00000368554.4_Missense_Mutation_p.R284M|PRAP1_ENST00000458230.1_Missense_Mutation_p.R116M			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	125						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GGCGAGGAGAGGCCCCGGTTG	0.647																																																	0													97	98	98					10																	135165862		2203	4300	6503	SO:0001583	missense	0			AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.374G>T	10.37:g.135165862G>T	ENSP00000416126:p.Arg125Met		B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.R284M	ENST00000433452.2	37	c.851	CCDS7679.1	10	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162881	0.38217	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230	T;T;T;T	0.33438	1.41;1.45;1.45;1.45	3.37	0.364	0.16124	.	1.521150	0.04330	N	0.352221	T	0.23806	0.0576	N	0.19112	0.55	0.09310	N	1	P;P;P	0.39624	0.681;0.681;0.681	B;B;B	0.44133	0.442;0.442;0.442	T	0.17289	-1.0374	10	0.52906	T	0.07	-1.6214	2.7752	0.05345	0.2528:0.0:0.5139:0.2333	.	116;126;125	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	M	284;125;126;116	ENSP00000357542:R284M;ENSP00000416126:R125M;ENSP00000409495:R126M;ENSP00000402700:R116M	ENSP00000409495:R126M	R	+	2	0	ZNF511;PRAP1	135015852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.867000	0.04241	0.074000	0.16767	-0.149000	0.13747	AGG	ZNF511	-	NULL	ENSG00000198546		0.647	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051132.1	-	0	27	0	G	NM_145202		135165862	1	tier1	-	no_errors	ENST00000368554	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.000	T	T	135165862	G	T	135165862	3	4	87	1	0	0	0	0	1	0	0	0	12483	1000	35	3	392	3	PRAP1	10	135165862	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	253693	135165862	368885	1089	24213											
NLRP6	171389	genome.wustl.edu	37	chr11	285298	285298	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggaactcatctcgacCttctgaggctctggtggcca	8	9	10	14	1	4	1	1	1	3	0	5	3	4	2	3	4	1	1	3	4	2	1	rs368470202		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:285298C>A	ENST00000312165.5	+	8	2673	c.2673C>A	c.(2671-2673)acC>acA	p.T891T	RP11-326C3.2_ENST00000534742.1_RNA|NLRP6_ENST00000534750.1_Silent_p.T890T|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	891					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCATCTCGACCTTCTGAGGCT	0.587																																																	0								C		0,4406		0,0,2203	66	57	60		2673	2.2	0	11		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NLRP6	NM_138329.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		891/893	285298	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"Nucleotide-binding domain and leucine rich repeat containing"	22944	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"	609650	"NACHT, leucine rich repeat and PYD containing 6"	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2673C>A	11.37:g.285298C>A			A8K9F3|E9PJZ8	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T891	ENST00000312165.5	37	c.2673	CCDS7693.1	11																																																																																			NLRP6	-	NULL	ENSG00000174885		0.587	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	-	0	43	0	C	NM_138329		285298	1	tier1	-	no_errors	ENST00000312165	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.037	A	A	285298	C	A	285298	2	1	87	1	0	0	0	0	0	0	0	1	10520	668	24	3		3	NLRP6	11	285298	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09		285298	134721218	1090	24214											
EPS8L2	64787	genome.wustl.edu	37	chr11	726965	726965	+	Frame_Shift_Del	DEL	G	G	-																															tcattccatgaatcagaggaGgggggaggacagctaggccc																								rs140464832	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:726965delG	ENST00000533256.1	+	22	2507	c.2132delG	c.(2131-2133)aggfs	p.R711fs	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Frame_Shift_Del_p.R727fs|EPS8L2_ENST00000534449.1_Intron|EPS8L2_ENST00000318562.8_Frame_Shift_Del_p.R711fs|EPS8L2_ENST00000530636.1_Frame_Shift_Del_p.R711fs			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	711					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATCAGAGGAGGGGGGAGGAC	0.537																																																	0													32	31	31					11																	726965		2202	4300	6502	SO:0001589	frameshift_variant	0			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.2132delG	11.37:g.726965delG	ENSP00000435585:p.Arg711fs		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Frame_Shift_Del	DEL	pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain	p.E713fs	ENST00000533256.1	37	c.2132	CCDS31328.1	11																																																																																			EPS8L2	-	NULL	ENSG00000177106		0.537	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1		0	43	0	G	NM_022772		726965	1	tier1		no_errors	ENST00000318562	ensembl	human	known	74_37	frame_shift_del	18.60	35	8	DEL	0.028	-	-	726965	G	-	726965	7	5	87	1	0	1	0	1	0	0	0	0	5212	1000	35	0	2210	0	EPS8L2	11	726965	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	441667	726965	134279551	1091	24215											
AP2A2	161	genome.wustl.edu	37	chr11	992535	992535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcctggctgagaagtaCgcggtggactacacctggta	9	8	13	11	2	0	1	0	1	0	1	1	3	1	2	3	4	2	3	3	4	4	3	rs372353121		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:992535C>T	ENST00000448903.2	+	11	1443	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	AP2A2_ENST00000332231.5_Silent_p.Y435Y|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	434					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGAGAAGTACGCGGTGGACT	0.557																																																	0								C	,	0,4122		0,0,2061	84	79	81		1305,1302	-1.5	1	11		81	1,8377		0,1,4188	no	coding-synonymous,coding-synonymous	AP2A2	NM_001242837.1,NM_012305.3	,	0,1,6249	TT,TC,CC		0.0119,0.0,0.0080	,	435/941,434/940	992535	1,12499	2061	4189	6250	SO:0001819	synonymous_variant	0			AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"alpha-adaptin C; Huntingtin interacting protein J", "adaptin, alpha B", "clathrin-associated/assembly/adaptor protein, large, alpha 2"	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.1302C>T	11.37:g.992535C>T			O75403|Q53ET1|Q96SI8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu	p.Y435	ENST00000448903.2	37	c.1305	CCDS44512.1	11																																																																																			AP2A2	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu	ENSG00000183020		0.557	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AP2A2	HGNC	protein_coding	OTTHUMT00000385431.2		0	34	0	C	NM_012305		992535	1			no_errors	ENST00000332231	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.991	T	T	992535	C	T	992535	2	4	87	1	0	0	0	0	0	0	0	1	740	547	19	1		1	AP2A2	11	992535	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	265570	992535	134013981	1092	24216											
MUC5B	727897	genome.wustl.edu	37	chr11	1273604	1273604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaataagaccgaccgagcCggctgccatttctacgcagt	11	8	9	13	4	1	1	0	0	1	1	1	3	1	1	4	1	4	2	4	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:1273604C>T	ENST00000529681.1	+	32	14953	c.14895C>T	c.(14893-14895)gcC>gcT	p.A4965A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.A4968A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4965					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGACCGAGCCGGCTGCCATT	0.572																																																	0													80	98	92					11																	1273604		2080	4206	6286	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14895C>T	11.37:g.1273604C>T			O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A4968	ENST00000529681.1	37	c.14904	CCDS44515.2	11																																																																																			MUC5B	-	NULL	ENSG00000117983		0.572	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	54	0	C	XM_001126093		1273604	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.219	T	T	1273604	C	T	1273604	2	4	87	1	0	0	0	0	0	0	0	1	10017	639	23	1		1	MUC5B	11	1273604	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	281069	1273604	133732912	1093	24217											
KRTAP5-5	439915	genome.wustl.edu	37	chr11	1651172	1651172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggctgtggctctggCtgtgggggctgtggctccgg	1	11	21	8	1	1	0	0	0	1	0	2	1	2	1	1	8	0	5	1	8	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:1651172C>T	ENST00000399676.2	+	1	140	c.102C>T	c.(100-102)ggC>ggT	p.G34G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	34						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gtggctctggctgtgggggct	0.721																																																	0													19	29	26					11																	1651172		1948	3961	5909	SO:0001819	synonymous_variant	0			AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"Keratin associated proteins"	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.102C>T	11.37:g.1651172C>T			A8MWN2	Silent	SNP	NULL	p.G34	ENST00000399676.2	37	c.102	CCDS41592.1	11																																																																																			KRTAP5-5	-	NULL	ENSG00000185940		0.721	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-5	HGNC	protein_coding	OTTHUMT00000127919.1	-	0	150	0	C			1651172	1	tier1	-	no_errors	ENST00000399676	ensembl	human	known	74_37	silent	9.66	159	17	SNP	0.993	T	T	1651172	C	T	1651172	2	4	87	1	0	0	0	0	0	0	0	1	8592	784	28	3		3	KRTAP5-5	11	1651172	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	377568	1651172	133355344	1094	24218											
TH	7054	genome.wustl.edu	37	chr11	2189810	2189810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcggcgcacctcgaggCgcacgaagtactccaggtgg	7	5	13	16	5	0	0	0	0	0	0	3	2	1	0	4	4	1	3	4	4	2	1	rs376881948		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:2189810C>T	ENST00000381178.1	-	4	509	c.491G>A	c.(490-492)cGc>cAc	p.R164H	TH_ENST00000381175.1_Missense_Mutation_p.R160H|TH_ENST00000333684.5_Missense_Mutation_p.R137H|TH_ENST00000352909.3_Missense_Mutation_p.R133H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	164					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CACCTCGAGGCGCACGAAGTA	0.682																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	1,4361		0,1,2180	12	16	15		398,491,479	3.3	0.2	11		15	0,8570		0,0,4285	no	missense,missense,missense	TH	NM_000360.3,NM_199292.2,NM_199293.2	29,29,29	0,1,6465	TT,TC,CC		0.0,0.0229,0.0077	probably-damaging,probably-damaging,probably-damaging	133/498,164/529,160/525	2189810	1,12931	2181	4285	6466	SO:0001583	missense	0			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"tyrosine 3-monooxygenase"	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.491G>A	11.37:g.2189810C>T	ENSP00000370571:p.Arg164His		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.R164H	ENST00000381178.1	37	c.491	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356148	0.41700	2.29E-4	0.0	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9	3.31	3.31	0.37934	.	0.310572	0.31542	U	0.007473	D	0.98372	0.9459	M	0.70275	2.135	0.45035	D	0.998059	B;P;P;D;D;D	0.63880	0.452;0.949;0.949;0.991;0.988;0.993	B;B;B;P;P;D	0.63192	0.066;0.438;0.438;0.888;0.818;0.912	D	0.98404	1.0569	10	0.51188	T	0.08	.	13.9504	0.64113	0.0:1.0:0.0:0.0	.	137;137;133;133;164;160	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	H	164;160;133;137	ENSP00000370571:R164H;ENSP00000370567:R160H;ENSP00000325951:R133H;ENSP00000328814:R137H	ENSP00000328814:R137H	R	-	2	0	TH	2146386	1.000000	0.71417	0.156000	0.22583	0.010000	0.07245	4.302000	0.59092	1.555000	0.49500	0.491000	0.48974	CGC	TH	-	pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase	ENSG00000180176		0.682	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	-	0	56	0	C	NM_000360		2189810	-1	tier1	-	no_errors	ENST00000381178	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T	T	2189810	C	T	2189810	3	4	87	1	0	0	0	0	1	0	0	0	15885	768	27	1	1139	1	TH	11	2189810	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	538638	2189810	132816706	1095	24219											
TSPAN32	10077	genome.wustl.edu	37	chr11	2338585	2338585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcagagcatgtggccGccagccccaggagcccagcc	7	4	12	18	1	1	1	1	0	0	1	2	2	2	2	7	2	4	2	7	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:2338585G>A	ENST00000182290.4	+	9	868	c.731G>A	c.(730-732)cGc>cAc	p.R244H	TSPAN32_ENST00000451520.2_Missense_Mutation_p.R233H|TSPAN32_ENST00000381121.3_Intron	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	244					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GCATGTGGCCGCCAGCCCCAG	0.577																																																	0													51	44	47					11																	2338585		2199	4298	6497	SO:0001583	missense	0			AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"Tetraspanins"	13410	protein-coding gene	gene with protein product		603853	"pan-hematopoietic expression"	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.731G>A	11.37:g.2338585G>A	ENSP00000182290:p.Arg244His		Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	p.R244H	ENST00000182290.4	37	c.731	CCDS7733.1	11	.	.	.	.	.	.	.	.	.	.	.	2.651	-0.281893	0.05642	.	.	ENSG00000064201	ENST00000182290;ENST00000451520;ENST00000444307;ENST00000381117	T;T	0.47177	0.86;0.85	2.33	-3.63	0.04529	.	4.023330	0.00559	N	0.000262	T	0.23532	0.0569	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.08638	-1.0712	10	0.15066	T	0.55	0.0987	4.3359	0.11087	0.4314:0.0:0.4161:0.1525	.	233;189;244	D3YTD1;G3XAG6;Q96QS1	.;.;TSN32_HUMAN	H	244;233;180;189	ENSP00000182290:R244H;ENSP00000405205:R233H	ENSP00000182290:R244H	R	+	2	0	TSPAN32	2295161	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	-0.073000	0.11468	-1.018000	0.03363	-1.800000	0.00619	CGC	TSPAN32	-	NULL	ENSG00000064201		0.577	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPAN32	HGNC	protein_coding	OTTHUMT00000026912.2	-	0	32	0	G	NM_139024		2338585	1	tier1	-	no_errors	ENST00000182290	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.000	A	A	2338585	G	A	2338585	3	1	87	1	0	0	0	0	1	0	0	0	16695	1087	38	1	765	1	TSPAN32	11	2338585	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	148775	2338585	132667931	1096	24220											
KCNQ1	3784	genome.wustl.edu	37	chr11	2610023	2610023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagtcccccatatcacGtgcgaccccccagaagagcg	10	5	8	18	3	2	2	2	0	0	2	3	3	3	2	5	0	2	0	5	0	2	1	rs144985256	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:2610023G>A	ENST00000155840.5	+	10	1440	c.1332G>A	c.(1330-1332)acG>acA	p.T444T	KCNQ1_ENST00000335475.5_Silent_p.T317T	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	444					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.T444T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	CCCATATCACGTGCGACCCCC	0.547																																																	1	Substitution - coding silent(1)	prostate(1)						A	,	10,4394	16.8+/-37.8	0,10,2192	54	54	54		1332,951	-10	0	11	dbSNP_134	54	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	KCNQ1	NM_000218.2,NM_181798.1	,	0,10,6491	AA,AG,GG		0.0,0.2271,0.0769	,	444/677,317/550	2610023	10,12992	2202	4299	6501	SO:0001819	synonymous_variant	0			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6294	protein-coding gene	gene with protein product	"Jervell and Lange-Nielsen syndrome 1"	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1332G>A	11.37:g.2610023G>A			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T444	ENST00000155840.5	37	c.1332	CCDS7736.1	11																																																																																			KCNQ1	-	prints_K_chnl_volt-dep_KCQN1	ENSG00000053918		0.547	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ1	HGNC	protein_coding	OTTHUMT00000027382.2	-	0	75	0	G	NM_000218		2610023	1	tier1	rs144985256	no_errors	ENST00000155840	ensembl	human	known	74_37	silent	9.33	68	7	SNP	0.004	A	A	2610023	G	A	2610023	2	1	87	1	0	0	0	0	0	0	0	1	8109	1132	40	1		1	KCNQ1	11	2610023	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	271438	2610023	132396493	1097	24221											
CARS	833	genome.wustl.edu	37	chr11	3028167	3028167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttgtcccgcagggcatcGctgagctgcagaatctcagg	8	9	13	11	2	1	2	1	1	1	1	4	2	2	2	1	2	2	6	1	2	1	1	rs375211080		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:3028167G>A	ENST00000397111.5	-	18	2087	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Silent_p.S614S|CARS_ENST00000397114.3_Silent_p.S604S|CARS_ENST00000380525.4_Silent_p.S697S|CARS_ENST00000401769.3_Silent_p.S627S			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	614					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GCAGGGCATCGCTGAGCTGCA	0.592			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0								G	,,,	0,4404		0,0,2202	147	141	143		2091,2091,1842,1842	-6.2	0.7	11		143	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CARS	NM_001014437.2,NM_001194997.1,NM_001751.5,NM_139273.3	,,,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,,,	697/832,697/810,614/749,614/727	3028167	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1842C>T	11.37:g.3028167G>A			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.S697	ENST00000397111.5	37	c.2091	CCDS7742.1	11																																																																																			CARS	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase	ENSG00000110619		0.592	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4		0	25	0	G	NM_001751		3028167	-1			no_errors	ENST00000380525	ensembl	human	known	74_37	silent	18.18	9	2	SNP	0.598	A	A	3028167	G	A	3028167	2	1	87	1	0	0	0	0	0	0	0	1	2664	1078	38	1		1	CARS	11	3028167	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	418144	3028167	131978349	1098	24222											
OR51E1	143503	genome.wustl.edu	37	chr11	4674493	4674493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggcacttgcgtctctcAtgtgtgtgctgtgttcatat	5	18	10	8	1	3	0	2	0	1	0	4	0	3	0	0	1	2	3	0	1	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:4674493A>G	ENST00000396952.5	+	2	1387	c.737A>G	c.(736-738)cAt>cGt	p.H246R	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCGTCTCTCATGTGTGTGCT	0.498																																																	0													242	229	234					11																	4674493		2201	4298	6499	SO:0001583	missense	0			AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"GPCR / Class A : Olfactory receptors"	15194	protein-coding gene	gene with protein product		611267	"olfactory receptor, family 51, subfamily E, member 1 pseudogene"	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.737A>G	11.37:g.4674493A>G	ENSP00000380155:p.His246Arg		A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H246R	ENST00000396952.5	37	c.737	CCDS31358.2	11	.	.	.	.	.	.	.	.	.	.	A	19.41	3.822821	0.71028	.	.	ENSG00000180785	ENST00000396952	T	0.71698	-0.59	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	D	0.90508	0.7026	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93969	0.7247	10	0.87932	D	0	.	13.7621	0.62973	1.0:0.0:0.0:0.0	.	245	Q8TCB6	O51E1_HUMAN	R	246	ENSP00000380155:H246R	ENSP00000380155:H246R	H	+	2	0	OR51E1	4631069	1.000000	0.71417	0.998000	0.56505	0.851000	0.48451	8.817000	0.91985	2.188000	0.69820	0.533000	0.62120	CAT	OR51E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000180785		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E1	HGNC	protein_coding	OTTHUMT00000347136.2	-	0	44	0	A	NM_152430		4674493	1	tier1	-	no_errors	ENST00000396952	ensembl	human	known	74_37	missense	37.04	34	20	SNP	1.000	G	G	4674493	A	G	4674493	3	3	87	1	0	0	0	0	1	0	0	0	11133	217	8	4	739	4	OR51E1	11	4674493	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1646326	4674493	130332023	1099	24223											
OR51S1	119692	genome.wustl.edu	37	chr11	4870355	4870355	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccaggagggtgcacctgaTaggcctggcatgcccaccag	9	5	13	14	0	0	1	0	1	0	0	0	2	0	2	5	4	2	2	5	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:4870355T>C	ENST00000322101.2	-	1	159	c.84A>G	c.(82-84)ctA>ctG	p.L28L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCACCTGATAGGCCTGGCA	0.552																																																	0													106	100	102					11																	4870355		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.84A>G	11.37:g.4870355T>C			B9EGZ1|Q6IFI2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L28	ENST00000322101.2	37	c.84	CCDS31362.1	11																																																																																			OR51S1	-	NULL	ENSG00000176922		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	-	0	30	0	T	NM_001004758		4870355	-1	tier1	-	no_errors	ENST00000322101	ensembl	human	known	74_37	silent	16.67	35	7	SNP	0.212	C	C	4870355	T	C	4870355	2	2	87	1	0	0	0	0	0	0	0	1	11144	1393	49	4		4	OR51S1	11	4870355	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	195862	4870355	130136161	1100	24224											
OR52B6	340980	genome.wustl.edu	37	chr11	5603090	5603090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctaagcagatgttttcAaatcttgccaaaggatctaa	13	11	10	7	0	3	1	1	0	2	1	3	2	3	2	1	3	2	3	1	3	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:5603090A>G	ENST00000345043.2	+	1	984	c.984A>G	c.(982-984)tcA>tcG	p.S328S	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	328						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATGTTTTCAAATCTTGCCA	0.423																																																	0													136	121	126					11																	5603090		1882	4110	5992	SO:0001819	synonymous_variant	0			AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"GPCR / Class A : Olfactory receptors"	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.984A>G	11.37:g.5603090A>G			Q6IFI7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S328	ENST00000345043.2	37	c.984	CCDS41611.1	11																																																																																			OR52B6	-	NULL	ENSG00000187747		0.423	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B6	HGNC	protein_coding	OTTHUMT00000143397.1	-	0	44	0	A	NM_001005162		5603090	1	tier1	-	no_errors	ENST00000345043	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.832	G	G	5603090	A	G	5603090	2	3	87	1	0	0	0	0	0	0	0	1	11152	117	5	4		4	OR52B6	11	5603090	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	732735	5603090	129403426	1101	24225											
TRIM22	10346	genome.wustl.edu	37	chr11	5719674	5719674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaatgtgctggataacctgGcagcagctacagaccagctg	11	8	12	10	0	0	2	0	1	0	1	0	3	0	3	2	2	6	5	2	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:5719674G>A	ENST00000379965.3	+	4	926	c.649G>A	c.(649-651)Gca>Aca	p.A217T	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	217					defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GGATAACCTGGCAGCAGCTAC	0.532																																					GBM(104;491 2336 5222)												0													62	69	67					11																	5719674		2069	4218	6287	SO:0001583	missense	0			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16379	protein-coding gene	gene with protein product		606559	"tripartite motif-containing 22"			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.649G>A	11.37:g.5719674G>A	ENSP00000369299:p.Ala217Thr		Q05CQ0|Q15521	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.A217T	ENST00000379965.3	37	c.649	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368454	0.42003	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000414641;ENST00000455293	T;T;T	0.71934	3.57;3.57;-0.61	3.53	0.557	0.17260	.	.	.	.	.	T	0.69788	0.3150	L	0.48174	1.505	0.09310	N	1	P;P;D;D	0.62365	0.557;0.919;0.986;0.991	B;B;P;P	0.61201	0.167;0.214;0.885;0.804	T	0.56727	-0.7931	9	0.23302	T	0.38	.	3.2942	0.06960	0.2284:0.0:0.5689:0.2027	.	139;185;213;217	F8WAP8;C9JWC5;Q8IYM9-2;Q8IYM9	.;.;.;TRI22_HUMAN	T	217;28;185;217;139	ENSP00000369299:A217T;ENSP00000393250:A185T;ENSP00000396849:A217T	ENSP00000369299:A217T	A	+	1	0	TRIM22	5676250	0.000000	0.05858	0.031000	0.17742	0.663000	0.39108	0.331000	0.19733	0.141000	0.18875	0.460000	0.39030	GCA	TRIM22	-	NULL	ENSG00000132274		0.532	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	HGNC	protein_coding	OTTHUMT00000143387.2		0	47	0	G	NM_006074		5719674	1			no_errors	ENST00000379965	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.030	A	A	5719674	G	A	5719674	3	1	87	1	0	0	0	0	1	0	0	0	16544	1203	42	3	659	3	TRIM22	11	5719674	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	116584	5719674	129286842	1102	24226											
OR52N4	390072	genome.wustl.edu	37	chr11	5776885	5776885	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaacagatacgagactgTgtcataaggatcctttcagg	14	9	9	9	1	2	2	2	0	0	2	3	4	3	3	2	2	2	0	2	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:5776885T>C	ENST00000317254.3	+	1	963	c.915T>C	c.(913-915)tgT>tgC	p.C305C	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TACGAGACTGTGTCATAAGGA	0.418																																																	0													82	75	77					11																	5776885		1892	4140	6032	SO:0001819	synonymous_variant	0			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"GPCR / Class A : Olfactory receptors"	15230	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily N, member 4"				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.915T>C	11.37:g.5776885T>C			B2RNP8|Q6IF77	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C305	ENST00000317254.3	37	c.915	CCDS44528.1	11																																																																																			OR52N4	-	NULL	ENSG00000181074		0.418	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	HGNC	protein_coding	OTTHUMT00000143350.1	-	0	57	0	T	NM_001005175		5776885	1	tier1	-	no_errors	ENST00000317254	ensembl	human	known	74_37	silent	11.11	40	5	SNP	0.464	C	C	5776885	T	C	5776885	2	2	87	1	0	0	0	0	0	0	0	1	11168	1702	59	4		4	OR52N4	11	5776885	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	57211	5776885	129229631	1103	24227											
FAM160A2	84067	genome.wustl.edu	37	chr11	6245433	6245433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcactgagatcgtctgcacCcccaggagctgcccgagggc	8	5	13	15	2	1	1	0	1	1	1	2	4	1	2	3	2	4	3	3	2	0	0	rs566797155	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6245433C>A	ENST00000449352.2	-	3	447	c.184G>T	c.(184-186)Ggt>Tgt	p.G62C	FAM160A2_ENST00000265978.4_Missense_Mutation_p.G62C|FAM160A2_ENST00000524416.1_Missense_Mutation_p.G62C			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	62					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGTCTGCACCCCCAGGAGCT	0.572																																																	0													47	47	47					11																	6245433		2201	4296	6497	SO:0001583	missense	0				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 56"	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.184G>T	11.37:g.6245433C>A	ENSP00000416918:p.Gly62Cys		Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.G62C	ENST00000449352.2	37	c.184	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	C	15.83	2.947716	0.53186	.	.	ENSG00000051009	ENST00000449352;ENST00000265978;ENST00000524416	T;T;T	0.15256	3.05;3.06;2.44	4.45	4.45	0.53987	.	0.329760	0.28796	N	0.014105	T	0.22085	0.0532	N	0.22421	0.69	0.37253	D	0.906641	D;D;D	0.71674	0.99;0.963;0.998	P;P;D	0.64321	0.865;0.719;0.924	T	0.04946	-1.0916	10	0.52906	T	0.07	-17.2555	8.2588	0.31773	0.0:0.8949:0.0:0.1051	.	62;62;62	E9PJK5;Q8N612;Q8N612-2	.;F16A2_HUMAN;.	C	62	ENSP00000416918:G62C;ENSP00000265978:G62C;ENSP00000431773:G62C	ENSP00000265978:G62C	G	-	1	0	FAM160A2	6202009	0.596000	0.26866	1.000000	0.80357	0.998000	0.95712	0.274000	0.18680	2.320000	0.78422	0.655000	0.94253	GGT	FAM160A2	-	NULL	ENSG00000051009		0.572	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	-	0	39	0	C	NM_032127		6245433	-1	tier1	-	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	A	A	6245433	C	A	6245433	3	1	87	1	0	0	0	0	1	0	0	0	5488	623	22	3	2816	3	FAM160A2	11	6245433	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	468548	6245433	128761083	1104	24228											
CCKBR	887	genome.wustl.edu	37	chr11	6292451	6292451	+	Frame_Shift_Del	DEL	T	T	-																															gttgctggtgatcgttgtgcTtttttttctgtgttggttgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6292451delT	ENST00000334619.2	+	5	1215	c.1022delT	c.(1021-1023)cttfs	p.L341fs	CCKBR_ENST00000532715.1_Frame_Shift_Del_p.L257fs|CCKBR_ENST00000525462.1_Frame_Shift_Del_p.L410fs	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	341					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATCGTTGTGCTTTTTTTTCTG	0.612																																																	0													207	164	179					11																	6292451		2201	4296	6497	SO:0001589	frameshift_variant	0			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"GPCR / Class A : Cholecystokinin receptors"	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.1022delT	11.37:g.6292451delT	ENSP00000335544:p.Leu341fs		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.L413fs	ENST00000334619.2	37	c.1229	CCDS7761.1	11																																																																																			CCKBR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000110148		0.612	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2		0	15	0	T	NM_176875		6292451	1	tier1		no_errors	ENST00000525462	ensembl	human	known	74_37	frame_shift_del	61.54	5	8	DEL	0.995	-	-	6292451	T	-	6292451	7	5	87	1	0	1	0	1	0	0	0	0	2888	1609	56	0	1040	0	CCKBR	11	6292451	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	47018	6292451	128714065	1105	24229											
APBB1	322	genome.wustl.edu	37	chr11	6423942	6423942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctacccagcctagggagCgcacggcgaaacactgccag	10	5	11	15	3	1	0	0	0	1	0	2	2	1	1	3	2	5	1	3	2	3	2	rs375733189		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6423942C>T	ENST00000609360.1	-	7	1217	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	APBB1_ENST00000389906.2_Missense_Mutation_p.R373H|APBB1_ENST00000608704.1_Missense_Mutation_p.R114H|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.R373H|APBB1_ENST00000608655.1_Missense_Mutation_p.R153H|APBB1_ENST00000609331.1_Missense_Mutation_p.R138H|APBB1_ENST00000608645.1_Missense_Mutation_p.R114H|APBB1_ENST00000530885.1_Missense_Mutation_p.R153H|APBB1_ENST00000608394.1_Missense_Mutation_p.R114H|APBB1_ENST00000311051.3_Missense_Mutation_p.R373H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	373	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GCCTAGGGAGCGCACGGCGAA	0.572																																					GBM(147;1810 2556 5672 39622)												0								C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	71	70	70		1118,1118	5	1	11		70	3,8589	3.0+/-9.4	0,3,4293	no	missense,missense	APBB1	NM_001164.2,NM_145689.1	29,29	0,3,6494	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	373/711,373/709	6423942	3,12991	2201	4296	6497	SO:0001583	missense	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1118G>A	11.37:g.6423942C>T	ENSP00000477213:p.Arg373His		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.R373H	ENST00000609360.1	37	c.1118		11	.	.	.	.	.	.	.	.	.	.	C	18.00	3.524851	0.64747	0.0	3.49E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.17238	0.0414	L	0.42581	1.335	0.80722	D	1	B;P;P;B	0.39535	0.009;0.677;0.474;0.365	B;B;B;B	0.26310	0.003;0.059;0.068;0.053	T	0.03017	-1.1082	10	0.45353	T	0.12	-12.9436	9.784	0.40664	0.0:0.9049:0.0:0.0951	.	222;138;153;373	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	H	373;373;373;222;114;138;153;114	ENSP00000299402:R373H;ENSP00000311912:R373H;ENSP00000374556:R373H;ENSP00000433338:R153H;ENSP00000437114:R114H	ENSP00000299402:R373H	R	-	2	0	APBB1	6380518	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.957000	0.70323	2.497000	0.84241	0.591000	0.81541	CGC	APBB1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000166313		0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1		0	37	0	C	NM_001164		6423942	-1			no_errors	ENST00000389906	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	T	T	6423942	C	T	6423942	3	4	87	1	0	0	0	0	1	0	0	0	759	768	27	1	1046	1	APBB1	11	6423942	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	131491	6423942	128582574	1106	24230											
HPX	3263	genome.wustl.edu	37	chr11	6452975	6452975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccttctccagccgcttcGgataaccgcttactagggta	7	12	8	14	3	1	0	0	0	1	0	4	1	2	1	4	2	3	3	4	2	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6452975G>A	ENST00000265983.3	-	9	1125	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	342					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CAGCCGCTTCGGATAACCGCT	0.517																																																	0													97	105	102					11																	6452975		2201	4296	6497	SO:0001583	missense	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1025C>T	11.37:g.6452975G>A	ENSP00000265983:p.Pro342Leu		B2R957	Missense_Mutation	SNP	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.P342L	ENST00000265983.3	37	c.1025	CCDS7763.1	11	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524074	0.85600	.	.	ENSG00000110169	ENST00000265983	T	0.05513	3.43	5.49	5.49	0.81192	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00603	-1.1649	10	0.87932	D	0	-10.6213	16.8493	0.85989	0.0:0.0:1.0:0.0	.	342	P02790	HEMO_HUMAN	L	342	ENSP00000265983:P342L	ENSP00000265983:P342L	P	-	2	0	HPX	6409551	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	6.271000	0.72569	2.588000	0.87417	0.462000	0.41574	CCG	HPX	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.517	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	-	0	43	0	G	NM_000613		6452975	-1	tier1	-	no_errors	ENST00000265983	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	A	A	6452975	G	A	6452975	3	1	87	1	0	0	0	0	1	0	0	0	7373	1116	39	1	371	1	HPX	11	6452975	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	29033	6452975	128553541	1107	24231											
DCHS1	8642	genome.wustl.edu	37	chr11	6645455	6645456	+	Frame_Shift_Ins	INS	-	-	A																															cagccacacggtagtgtgacINSaatgtgaagctcggggcgtg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6645455_6645456insA	ENST00000299441.3	-	21	7862_7863	c.7451_7452insT	c.(7450-7452)ttgfs	p.L2484fs	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2484	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAGTGTGACAATGTGAAGCT	0.644																																																	0																																										SO:0001589	frameshift_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.7452dupT	11.37:g.6645457_6645457dupA	ENSP00000299441:p.Leu2484fs		O15098	Frame_Shift_Ins	INS	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L2484fs	ENST00000299441.3	37	c.7452_7451	CCDS7771.1	11																																																																																			DCHS1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.644	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	42	0	-	NM_003737		6645456	-1	tier1		no_errors	ENST00000299441	ensembl	human	known	74_37	frame_shift_ins	17.95	32	7	INS	1.000:0.995	A	A	6645456	-	A	6645455	7	5	87	1	0	1	1	0	0	0	0	0	4296	477	17	0	2448	0	DCHS1	11	6645455	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	192480	6645455	128361061	1108	24232											
DCHS1	8642	genome.wustl.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-																															cagcagggcctgggccctccGggggggtgaaccaccatcat																								rs188153920	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587																																																	0													100	101	101					11																	6662142		2201	4296	6497	SO:0001589	frameshift_variant	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.703delC	11.37:g.6662142delG	ENSP00000299441:p.Arg236fs		O15098	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R235fs	ENST00000299441.3	37	c.703	CCDS7771.1	11																																																																																			DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000166341		0.587	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	37	0	G	NM_003737		6662142	-1	tier1		no_errors	ENST00000299441	ensembl	human	known	74_37	frame_shift_del	20.45	35	9	DEL	0.606	-	-	6662142	G	-	6662142	7	5	87	1	0	1	0	1	0	0	0	0	4296	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	16687	6662142	128344374	1109	24233											
RIC3	79608	genome.wustl.edu	37	chr11	8161539	8161539	+	Frame_Shift_Del	DEL	A	A	-																															atagaatgtacagtatatatAaaaaaatcccaaaaccgtag																								rs267603218		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:8161539delA	ENST00000309737.6	-	2	325	c.326delT	c.(325-327)ttafs	p.L109fs	RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'Flank|RIC3_ENST00000343202.4_Frame_Shift_Del_p.L109fs|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	109					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTATATATAAAAAAATCCC	0.353																																																	0													64	76	72					11																	8161539		2201	4296	6497	SO:0001589	frameshift_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.326delT	11.37:g.8161539delA	ENSP00000308820:p.Leu109fs		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	NULL	p.L109fs	ENST00000309737.6	37	c.326	CCDS55742.1	11																																																																																			RIC3	-	NULL	ENSG00000166405		0.353	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0	82	0	A	NM_024557		8161539	-1	tier1		no_errors	ENST00000309737	ensembl	human	known	74_37	frame_shift_del	23.26	66	20	DEL	1.000	-	-	8161539	A	-	8161539	7	5	87	1	0	1	0	1	0	0	0	0	13399	372	13	0	800	0	RIC3	11	8161539	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1499397	8161539	126844977	1110	24234											
COPB1	1315	genome.wustl.edu	37	chr11	14515826	14515826	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagttgttttaggaacaAtttcccaaaataccagaagt	14	12	8	7	0	0	1	0	0	0	1	1	3	1	3	2	2	2	2	2	2	7	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:14515826A>T	ENST00000249923.3	-	3	551	c.251T>A	c.(250-252)aTt>aAt	p.I84N	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.I84N|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	84					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTTAGGAACAATTTCCCAAAA	0.353																																																	0													85	88	87					11																	14515826		2200	4294	6494	SO:0001583	missense	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.251T>A	11.37:g.14515826A>T	ENSP00000249923:p.Ile84Asn		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.I84N	ENST00000249923.3	37	c.251	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708479	0.89018	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.31	5.31	0.75309	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48960	0.1529	M	0.89214	3.015	0.80722	D	1	P	0.51147	0.942	P	0.52957	0.714	T	0.56147	-0.8027	10	0.38643	T	0.18	-8.897	15.2851	0.73822	1.0:0.0:0.0:0.0	.	84	P53618	COPB_HUMAN	N	84	ENSP00000249923:I84N;ENSP00000397873:I84N;ENSP00000436383:I84N;ENSP00000431530:I84N;ENSP00000436401:I84N	ENSP00000249923:I84N	I	-	2	0	COPB1	14472402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.004000	0.58718	0.533000	0.62120	ATT	COPB1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	ENSG00000129083		0.353	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0	72	0	A	NM_016451		14515826	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	missense	10.14	62	7	SNP	1.000	T	T	14515826	A	T	14515826	3	4	87	1	0	0	0	0	1	0	0	0	3735	101	4	5	2690	5	COPB1	11	14515826	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	6354287	14515826	120490690	1111	24235											
KCNC1	3746	genome.wustl.edu	37	chr11	17794026	17794026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagaagcatattccgcGgccaccgcagctgggatctc	13	6	10	12	3	1	1	0	0	1	1	3	2	2	2	3	2	2	3	3	2	5	2	rs200123434		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:17794026G>A	ENST00000379472.3	+	2	1415	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q	KCNC1_ENST00000265969.6_Missense_Mutation_p.R462Q	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	462					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CATATTCCGCGGCCACCGCAG	0.483																																																	0													49	57	54					11																	17794026		2200	4293	6493	SO:0001583	missense	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1385G>A	11.37:g.17794026G>A	ENSP00000368785:p.Arg462Gln		K4DI87	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.R462Q	ENST00000379472.3	37	c.1385	CCDS7827.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079520	0.55753	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97138	-4.26;-4.26	5.24	5.24	0.73138	.	0.054356	0.64402	D	0.000001	D	0.97592	0.9211	L	0.46947	1.48	0.80722	D	1	B;D	0.89917	0.1;1.0	B;D	0.66716	0.023;0.946	D	0.98091	1.0409	10	0.52906	T	0.07	.	18.8513	0.92232	0.0:0.0:1.0:0.0	.	462;462	Q3KNS8;P48547	.;KCNC1_HUMAN	Q	462	ENSP00000265969:R462Q;ENSP00000368785:R462Q	ENSP00000265969:R462Q	R	+	2	0	KCNC1	17750602	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.869000	0.99810	2.445000	0.82738	0.561000	0.74099	CGG	KCNC1	-	prints_K_chnl_volt-dep_Kv3	ENSG00000129159		0.483	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	-	0	46	0	G	NM_004976		17794026	1	tier1	rs200123434	no_errors	ENST00000265969	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	A	A	17794026	G	A	17794026	3	1	87	1	0	0	0	0	1	0	0	0	8041	1116	39	1	1391	1	KCNC1	11	17794026	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3278200	17794026	117212490	1112	24236											
MRGPRX3	117195	genome.wustl.edu	37	chr11	18159395	18159395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctgaccaggctgtacGtgaccatcctcctcacagtg	7	9	10	15	2	1	2	1	2	0	0	3	2	3	2	5	1	2	3	5	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:18159395G>A	ENST00000396275.2	+	3	1007	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGGCTGTACGTGACCATCCT	0.557																																																	0													114	107	110					11																	18159395		2200	4293	6493	SO:0001583	missense	0				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"GPCR / Class A : Orphans"	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.646G>A	11.37:g.18159395G>A	ENSP00000379571:p.Val216Met		B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V216M	ENST00000396275.2	37	c.646	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078490	0.55753	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.38077	1.16;1.16	1.46	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	1.272850	0.05298	N	0.522521	T	0.63896	0.2550	M	0.89163	3.01	0.26476	N	0.975183	D	0.71674	0.998	D	0.66497	0.944	T	0.42531	-0.9446	10	0.72032	D	0.01	.	8.8001	0.34903	0.0:0.0:1.0:0.0	.	216	Q96LB0	MRGX3_HUMAN	M	216	ENSP00000379571:V216M;ENSP00000436242:V216M	ENSP00000379571:V216M	V	+	1	0	MRGPRX3	18115971	0.000000	0.05858	0.982000	0.44146	0.095000	0.18619	-0.619000	0.05572	1.108000	0.41662	0.430000	0.28490	GTG	MRGPRX3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179826		0.557	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	HGNC	protein_coding	OTTHUMT00000389767.1	-	0	69	0	G	NM_054031		18159395	1	tier1	-	no_errors	ENST00000396275	ensembl	human	known	74_37	missense	19.35	50	12	SNP	0.999	A	A	18159395	G	A	18159395	3	1	87	1	0	0	0	0	1	0	0	0	9806	1145	40	1	648	1	MRGPRX3	11	18159395	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	365369	18159395	116847121	1113	24237											
KCNA4	3739	genome.wustl.edu	37	chr11	30033718	30033718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaacagtcactgtagcGgactgaactgtagccgccac	11	8	9	13	2	2	1	2	1	0	0	2	2	2	2	2	1	4	2	2	1	4	3	rs535663100		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:30033718G>A	ENST00000328224.6	-	2	1741	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	170					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCACTGTAGCGGACTGAACTG	0.507													G|||	1	0.000199681	0	0.0014	5008	,	,		17678	0		0	False		,,,				2504	0																0													64	64	64					11																	30033718		2161	4253	6414	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.508C>T	11.37:g.30033718G>A	ENSP00000328511:p.Arg170Cys			Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.R170C	ENST00000328224.6	37	c.508	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766485	0.69878	.	.	ENSG00000182255	ENST00000328224	D	0.97016	-4.21	4.66	4.66	0.58398	.	0.133902	0.45126	U	0.000393	D	0.94631	0.8269	N	0.14661	0.345	0.58432	D	0.999996	D	0.67145	0.996	P	0.58210	0.835	D	0.94454	0.7670	10	0.35671	T	0.21	.	15.7518	0.77992	0.0:0.0:1.0:0.0	.	170	P22459	KCNA4_HUMAN	C	170	ENSP00000328511:R170C	ENSP00000328511:R170C	R	-	1	0	KCNA4	29990294	1.000000	0.71417	0.996000	0.52242	0.967000	0.64934	6.512000	0.73737	2.145000	0.66743	0.561000	0.74099	CGC	KCNA4	-	NULL	ENSG00000182255		0.507	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	-	0	28	0	G	NM_002233		30033718	-1	tier1	-	no_errors	ENST00000328224	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A	A	30033718	G	A	30033718	3	1	87	1	0	0	0	0	1	0	0	0	8032	1116	39	1	1457	1	KCNA4	11	30033718	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	11874323	30033718	104972798	1114	24238											
CCDC73	493860	genome.wustl.edu	37	chr11	32675522	32675522	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatagcttatgattgcttAcctgtttttcttcttgaata	10	19	5	7	0	2	2	0	2	2	0	2	2	2	2	1	0	3	3	1	0	6	9			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:32675522A>G	ENST00000335185.5	-	11	878		c.e11+1		CCDC73_ENST00000534415.1_Splice_Site	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATGATTGCTTACCTGTTTTTC	0.269																																																	0													77	72	73					11																	32675522		1791	4049	5840	SO:0001630	splice_region_variant	0			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.834+1T>C	11.37:g.32675522A>G			Q6P5Q7|Q6ZMW0|Q86WE7	Splice_Site	SNP	-	e10+2	ENST00000335185.5	37	c.834+2	CCDS41630.1	11	.	.	.	.	.	.	.	.	.	.	A	12.21	1.869222	0.32977	.	.	ENSG00000186714	ENST00000335185	.	.	.	5.94	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2163	0.20658	0.8672:0.0:0.1328:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC73	32632098	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	2.194000	0.42668	1.181000	0.42912	0.528000	0.53228	.	CCDC73	-	-	ENSG00000186714		0.269	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC73	HGNC	protein_coding	OTTHUMT00000388874.2	-	0	73	0	A	NM_001008391	Intron	32675522	-1	tier1	-	no_errors	ENST00000335185	ensembl	human	known	74_37	splice_site	19.28	67	16	SNP	1.000	G	G	32675522	A	G	32675522	5	3	87	1	0	0	0	0	0	0	1	0	2853	405	14	4	2435	4	CCDC73	11	32675522	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2641804	32675522	102330994	1115	24239											
HIPK3	10114	genome.wustl.edu	37	chr11	33308839	33308839	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacaaaataaatttagtccCctgccactaaaagtgattcg	17	10	5	9	1	0	1	0	1	0	0	2	1	1	1	3	0	2	0	3	0	8	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:33308839C>A	ENST00000303296.4	+	2	1184	c.879C>A	c.(877-879)ccC>ccA	p.P293P	HIPK3_ENST00000456517.1_Silent_p.P293P|HIPK3_ENST00000525975.1_Silent_p.P293P|HIPK3_ENST00000379016.3_Silent_p.P293P	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AATTTAGTCCCCTGCCACTAA	0.388																																																	0													80	86	84					11																	33308839		2202	4298	6500	SO:0001819	synonymous_variant	0			AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"homeodomain-interacting protein kinase 3"			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.879C>A	11.37:g.33308839C>A			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P293	ENST00000303296.4	37	c.879	CCDS7884.1	11																																																																																			HIPK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000110422		0.388	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	-	0	32	0	C	NM_005734		33308839	1	tier1	-	no_errors	ENST00000303296	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.930	A	A	33308839	C	A	33308839	2	1	87	1	0	0	0	0	0	0	0	1	7145	610	22	3		3	HIPK3	11	33308839	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	633317	33308839	101697677	1116	24240											
PRR5L	79899	genome.wustl.edu	37	chr11	36472847	36472847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctttcctcggcatcaGcggggaccgtagcttctcag	5	12	10	14	3	3	0	2	0	2	0	7	1	4	1	3	3	2	3	3	3	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:36472847G>T	ENST00000378867.3	+	9	1029	c.674G>T	c.(673-675)aGc>aTc	p.S225I	PRR5L_ENST00000530639.1_Missense_Mutation_p.S225I|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.S152I|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	225					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTCGGCATCAGCGGGGACCGT	0.527																																																	0													146	118	128					11																	36472847		2202	4298	6500	SO:0001583	missense	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"protein observed with Rictor-2"	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.674G>T	11.37:g.36472847G>T	ENSP00000368144:p.Ser225Ile		A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	pfam_HbrB	p.S225I	ENST00000378867.3	37	c.674	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425326	0.11987	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.81078	-1.45;-1.45;-1.45	5.16	4.24	0.50183	.	0.445292	0.23110	N	0.051815	T	0.79167	0.4400	L	0.53249	1.67	0.29841	N	0.829257	P;B	0.39883	0.693;0.0	P;B	0.46975	0.533;0.003	T	0.74176	-0.3750	10	0.31617	T	0.26	-14.6002	9.2211	0.37377	0.1637:0.0:0.8363:0.0	.	97;225	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	I	225;152;225	ENSP00000435050:S225I;ENSP00000310103:S152I;ENSP00000368144:S225I	ENSP00000310103:S152I	S	+	2	0	PRR5L	36429423	1.000000	0.71417	0.990000	0.47175	0.185000	0.23345	3.955000	0.56715	2.417000	0.82017	0.313000	0.20887	AGC	PRR5L	-	NULL	ENSG00000135362		0.527	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	-	0	72	0	G	NM_024841		36472847	1	tier1	-	no_errors	ENST00000378867	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.931	T	T	36472847	G	T	36472847	3	4	87	1	0	0	0	0	1	0	0	0	12644	971	34	3	706	3	PRR5L	11	36472847	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3164008	36472847	98533669	1117	24241											
ALX4	60529	genome.wustl.edu	37	chr11	44331253	44331253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgctgcaagtaaagatgCggttgcgcgggcggctgggg	6	7	18	10	5	0	1	0	0	0	1	1	1	0	1	1	5	3	5	1	5	3	2	rs199971294	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:44331253C>T	ENST00000329255.3	-	1	463	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	120					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGTAAAGATGCGGTTGCGCGG	0.711																																																	0													4	5	4					11																	44331253		1816	3819	5635	SO:0001819	synonymous_variant	0			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"Homeoboxes / PRD class"	450	protein-coding gene	gene with protein product		605420	"parietal foramina 2", "aristaless-like homeobox 4"	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.360G>A	11.37:g.44331253C>T			Q96JN7|Q9H198|Q9HAY9	Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.P120	ENST00000329255.3	37	c.360	CCDS31468.1	11																																																																																			ALX4	-	NULL	ENSG00000052850		0.711	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1	-	0	62	0	C			44331253	-1	tier1	-	no_errors	ENST00000329255	ensembl	human	known	74_37	silent	19.57	37	9	SNP	1.000	T	T	44331253	C	T	44331253	2	4	87	1	0	0	0	0	0	0	0	1	558	755	27	1		1	ALX4	11	44331253	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	7858406	44331253	90675263	1118	24242											
GYLTL1B	120071	genome.wustl.edu	37	chr11	45948373	45948373	+	Frame_Shift_Del	DEL	C	C	-																															tcctgccccatgaaccgccaCccccccggcctcacgatgtc																								rs376236828		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:45948373delC	ENST00000531526.1	+	10	1387	c.1276delC	c.(1276-1278)cccfs	p.P427fs	GYLTL1B_ENST00000389968.3_Frame_Shift_Del_p.P154fs|GYLTL1B_ENST00000401752.1_Frame_Shift_Del_p.P427fs|GYLTL1B_ENST00000536139.1_Frame_Shift_Del_p.P396fs|GYLTL1B_ENST00000325468.5_Frame_Shift_Del_p.P427fs|GYLTL1B_ENST00000529052.1_Frame_Shift_Del_p.P396fs	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	427					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.R428fs*68(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGAACCGCCACCCCCCCGGCC	0.647																																																	1	Insertion - Frameshift(1)	lung(1)											46	47	47					11																	45948373		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1276delC	11.37:g.45948373delC	ENSP00000432869:p.Pro427fs		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Frame_Shift_Del	DEL	pfam_Glyco_trans_8	p.R428fs	ENST00000531526.1	37	c.1276	CCDS31473.1	11																																																																																			GYLTL1B	-	NULL	ENSG00000165905		0.647	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1		0	47	0	C	NM_152312		45948373	1	tier1		no_errors	ENST00000325468	ensembl	human	known	74_37	frame_shift_del	18.33	49	11	DEL	0.023	-	-	45948373	C	-	45948373	7	5	87	1	0	1	0	1	0	0	0	0	6934	507	18	0	1310	0	GYLTL1B	11	45948373	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1617120	45948373	89058143	1119	24243											
AMBRA1	55626	genome.wustl.edu	37	chr11	46564329	46564329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccactcagatcctgtcaacCcaggagctatttctcggtga	9	11	8	13	1	3	2	2	1	1	1	6	3	5	3	3	2	2	1	3	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:46564329C>A	ENST00000458649.2	-	7	1656	c.1238G>T	c.(1237-1239)gGg>gTg	p.G413V	AMBRA1_ENST00000426438.1_Missense_Mutation_p.G413V|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G413V|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G413V|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G323V|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G323V|AMBRA1_ENST00000528950.1_Missense_Mutation_p.G413V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	413					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCTGTCAACCCAGGAGCTAT	0.602																																																	0													68	73	71					11																	46564329		2201	4299	6500	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1238G>T	11.37:g.46564329C>A	ENSP00000415327:p.Gly413Val		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G413V	ENST00000458649.2	37	c.1238		11	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936721	0.34189	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.70986	-0.39;-0.53;-0.14;-0.26;-0.14;-0.27;-0.26	5.85	4.92	0.64577	.	0.193133	0.45361	D	0.000367	T	0.60196	0.2250	N	0.24115	0.695	0.80722	D	1	D;B;B;B;B;B	0.56035	0.974;0.069;0.069;0.069;0.328;0.069	P;B;B;B;B;B	0.45913	0.497;0.069;0.069;0.069;0.232;0.069	T	0.64997	-0.6275	10	0.87932	D	0	.	10.1699	0.42904	0.0:0.7918:0.1377:0.0705	.	413;413;413;323;323;323	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	V	323;323;413;413;413;323;413;413	ENSP00000318313:G323V;ENSP00000433372:G323V;ENSP00000431926:G413V;ENSP00000410899:G413V;ENSP00000298834:G413V;ENSP00000415327:G413V;ENSP00000433945:G413V	ENSP00000298834:G413V	G	-	2	0	AMBRA1	46520905	0.998000	0.40836	0.986000	0.45419	0.862000	0.49288	1.558000	0.36309	1.437000	0.47472	0.563000	0.77884	GGG	AMBRA1	-	NULL	ENSG00000110497		0.602	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	20	0	C	NM_017749		46564329	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	34.62	17	9	SNP	1.000	A	A	46564329	C	A	46564329	3	1	87	1	0	0	0	0	1	0	0	0	565	623	22	3	2706	3	AMBRA1	11	46564329	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	615956	46564329	88442187	1120	24244											
F2	2147	genome.wustl.edu	37	chr11	46751031	46751031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccagtgtcctgcaggTggtgaacctgcccattgtgg	6	9	14	12	0	0	1	0	1	0	0	1	1	1	1	4	3	4	2	4	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:46751031T>C	ENST00000311907.5	+	12	1630	c.1574T>C	c.(1573-1575)gTg>gCg	p.V525A	F2_ENST00000530231.1_Missense_Mutation_p.V486A	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	525	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GTCCTGCAGGTGGTGAACCTG	0.622																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0													108	90	96					11																	46751031		2201	4299	6500	SO:0001583	missense	0			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"Endogenous ligands"	3535	protein-coding gene	gene with protein product	"prepro-coagulation factor II"	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1574T>C	11.37:g.46751031T>C	ENSP00000308541:p.Val525Ala		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.V525A	ENST00000311907.5	37	c.1574	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386512	0.42308	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.88277	-2.36;-2.36	5.46	2.8	0.32819	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.289221	0.38778	N	0.001571	T	0.81059	0.4744	N	0.10645	0.015	0.28149	N	0.929461	P	0.36027	0.533	P	0.47673	0.554	T	0.74169	-0.3752	10	0.87932	D	0	.	4.7578	0.13093	0.3604:0.0942:0.0:0.5453	.	525	P00734	THRB_HUMAN	A	525;486	ENSP00000308541:V525A;ENSP00000433907:V486A	ENSP00000308541:V525A	V	+	2	0	F2	46707607	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.637000	0.61346	1.006000	0.39211	0.533000	0.62120	GTG	F2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1	ENSG00000180210		0.622	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	HGNC	protein_coding	OTTHUMT00000317706.1	-	0	53	0	T			46751031	1	tier1	-	no_errors	ENST00000311907	ensembl	human	known	74_37	missense	42.00	29	21	SNP	1.000	C	C	46751031	T	C	46751031	3	2	87	1	0	0	0	0	1	0	0	0	5358	1696	59	4	1620	4	F2	11	46751031	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	186702	46751031	88255485	1121	24245											
MADD	8567	genome.wustl.edu	37	chr11	47306718	47306718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggaaagttacactccccGattcagccaacatgtcagtg	11	8	11	11	1	2	0	2	0	0	0	3	2	3	1	3	2	3	1	3	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:47306718G>A	ENST00000311027.5	+	13	2549	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	MADD_ENST00000406482.1_Intron|MADD_ENST00000349238.3_Missense_Mutation_p.R795Q|MADD_ENST00000402799.1_Intron|MADD_ENST00000395344.3_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000402192.2_Missense_Mutation_p.R795Q|MADD_ENST00000395336.3_Missense_Mutation_p.R795Q|MADD_ENST00000342922.4_Missense_Mutation_p.R795Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TACACTCCCCGATTCAGCCAA	0.547																																																	0													55	54	54					11																	47306718		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2384G>A	11.37:g.47306718G>A	ENSP00000310933:p.Arg795Gln			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R795Q	ENST00000311027.5	37	c.2384	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803054	0.70682	.	.	ENSG00000110514	ENST00000342922;ENST00000349238;ENST00000311027;ENST00000395336;ENST00000402192	T;T;T;T;T	0.06142	3.34;3.35;3.34;3.34;3.34	6.17	3.32	0.38043	.	0.148903	0.47852	N	0.000219	T	0.04907	0.0132	L	0.29908	0.895	0.80722	D	1	B;P;B;P	0.37525	0.337;0.482;0.227;0.598	B;B;B;B	0.37047	0.235;0.189;0.092;0.24	T	0.50583	-0.8811	10	0.38643	T	0.18	-1.059	6.206	0.20604	0.2:0.0:0.6689:0.1311	.	795;795;795;795	Q8WXG6-7;Q8WXG6-2;Q8WXG6;Q8WXG6-3	.;.;MADD_HUMAN;.	Q	795	ENSP00000343902:R795Q;ENSP00000304505:R795Q;ENSP00000310933:R795Q;ENSP00000378745:R795Q;ENSP00000384287:R795Q	ENSP00000310933:R795Q	R	+	2	0	MADD	47263294	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.768000	0.55295	0.488000	0.27723	0.655000	0.94253	CGA	MADD	-	NULL	ENSG00000110514		0.547	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1		0	39	0	G			47306718	1			no_errors	ENST00000311027	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	47306718	G	A	47306718	3	1	87	1	0	0	0	0	1	0	0	0	9188	1058	37	1	2430	1	MADD	11	47306718	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	555687	47306718	87699798	1122	24246											
MADD	8567	genome.wustl.edu	37	chr11	47348351	47348351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcgtctttgtcctggaGgaatttggtaattacactat	9	14	11	7	2	1	0	0	0	1	0	2	3	2	2	1	4	1	1	1	4	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:47348351G>T	ENST00000311027.5	+	34	4950	c.4785G>T	c.(4783-4785)gaG>gaT	p.E1595D	MADD_ENST00000407859.3_Missense_Mutation_p.E1513D|MADD_ENST00000406482.1_Intron|MADD_ENST00000349238.3_Missense_Mutation_p.E1556D|MADD_ENST00000402799.1_Missense_Mutation_p.E1493D|MADD_ENST00000395344.3_Missense_Mutation_p.E1489D|MADD_ENST00000402192.2_Missense_Mutation_p.E1535D|MADD_ENST00000395336.3_Intron|MADD_ENST00000342922.4_Missense_Mutation_p.E1536D	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TTGTCCTGGAGGAATTTGGTA	0.498																																																	0													126	125	125					11																	47348351		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"DENN/MADD domain containing"	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4785G>T	11.37:g.47348351G>T	ENSP00000310933:p.Glu1595Asp			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1595D	ENST00000311027.5	37	c.4785	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706234	0.68615	.	.	ENSG00000110514	ENST00000342922;ENST00000402799;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000402192	T;T;T;T;T;T;T	0.08370	3.24;3.1;3.22;3.21;3.11;3.12;3.24	5.84	4.92	0.64577	.	0.092622	0.85682	D	0.000000	T	0.17492	0.0420	L	0.33339	1.005	0.80722	D	1	B;B;P;P;D;P;P	0.67145	0.006;0.006;0.487;0.891;0.996;0.872;0.649	B;B;B;P;D;B;B	0.76071	0.004;0.007;0.203;0.482;0.987;0.289;0.398	T	0.01202	-1.1420	10	0.51188	T	0.08	-23.251	11.1971	0.48719	0.1486:0.0:0.8514:0.0	.	1489;1489;1493;1556;1513;1595;1536	B5MEE5;A8K8S7;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;MADD_HUMAN;.	D	1536;1493;1556;1595;1513;1489;1535	ENSP00000343902:E1536D;ENSP00000385585:E1493D;ENSP00000304505:E1556D;ENSP00000310933:E1595D;ENSP00000384204:E1513D;ENSP00000378753:E1489D;ENSP00000384287:E1535D	ENSP00000310933:E1595D	E	+	3	2	MADD	47304927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.214000	0.65236	1.450000	0.47717	0.561000	0.74099	GAG	MADD	-	NULL	ENSG00000110514		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	-	0	64	0	G			47348351	1	tier1	-	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	T	T	47348351	G	T	47348351	3	4	87	1	0	0	0	0	1	0	0	0	9188	991	35	3	4915	3	MADD	11	47348351	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	41633	47348351	87658165	1123	24247											
OR4B1	119765	genome.wustl.edu	37	chr11	48238936	48238936	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcactgacaccttcaTggagggggttattgtgttgg	6	13	14	8	0	1	1	1	1	0	0	1	2	1	2	2	4	2	3	2	4	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:48238936T>A	ENST00000309562.2	+	1	593	c.575T>A	c.(574-576)aTg>aAg	p.M192K		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GACACCTTCATGGAGGGGGTT	0.458																																																	0													168	147	154					11																	48238936		2201	4298	6499	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.575T>A	11.37:g.48238936T>A	ENSP00000311605:p.Met192Lys		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M192K	ENST00000309562.2	37	c.575	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	T	7.940	0.742472	0.15642	.	.	ENSG00000175619	ENST00000309562	T	0.00091	8.74	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.472043	0.17871	N	0.159192	T	0.00178	0.0005	L	0.35593	1.075	0.09310	N	1	B	0.27679	0.185	B	0.34346	0.18	T	0.50250	-0.8850	10	0.72032	D	0.01	.	13.6316	0.62198	0.0:0.0:0.0:1.0	.	192	Q8NGF8	OR4B1_HUMAN	K	192	ENSP00000311605:M192K	ENSP00000311605:M192K	M	+	2	0	OR4B1	48195512	0.000000	0.05858	0.302000	0.25058	0.009000	0.06853	0.704000	0.25661	2.100000	0.63781	0.416000	0.27883	ATG	OR4B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000175619		0.458	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	-	0	75	0	T	NM_001005470		48238936	1	tier1	-	no_errors	ENST00000309562	ensembl	human	known	74_37	missense	34.78	45	24	SNP	0.012	A	A	48238936	T	A	48238936	3	1	87	1	0	0	0	0	1	0	0	0	11083	1464	51	5	577	5	OR4B1	11	48238936	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	890585	48238936	86767580	1124	24248											
OR4X2	119764	genome.wustl.edu	37	chr11	48267012	48267012	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccactatgtggccatctgCaagcccctcagctacaccac	10	7	7	17	0	2	0	1	0	1	0	2	1	2	0	5	1	4	2	5	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:48267012C>T	ENST00000302329.3	+	1	405	c.357C>T	c.(355-357)tgC>tgT	p.C119C		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGCCATCTGCAAGCCCCTCA	0.517																																																	0													150	130	137					11																	48267012		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"GPCR / Class A : Olfactory receptors"	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.357C>T	11.37:g.48267012C>T			B2RNK3|Q6IF73|Q96R63	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C119	ENST00000302329.3	37	c.357	CCDS31486.1	11																																																																																			OR4X2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172208		0.517	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X2	HGNC	protein_coding	OTTHUMT00000383376.2	-	0	55	0	C	NM_001004727		48267012	1	tier1	-	no_errors	ENST00000302329	ensembl	human	known	74_37	silent	22.86	54	16	SNP	0.996	T	T	48267012	C	T	48267012	2	4	87	1	0	0	0	0	0	0	0	1	11124	718	25	3		3	OR4X2	11	48267012	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	28076	48267012	86739504	1125	24249											
FOLH1	2346	genome.wustl.edu	37	chr11	49175878	49175878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactacagcataatctcgaCaatcaaaagggagcactatg	18	7	7	9	1	2	0	1	0	1	0	3	2	2	1	0	1	4	2	0	1	7	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:49175878C>T	ENST00000256999.2	-	16	2050	c.1790G>A	c.(1789-1791)tGt>tAt	p.C597Y	FOLH1_ENST00000340334.7_Missense_Mutation_p.C582Y|FOLH1_ENST00000356696.3_Missense_Mutation_p.C597Y|FOLH1_ENST00000343844.4_Missense_Mutation_p.C289Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.C582Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	597					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATAATCTCGACAATCAAAAGG	0.383																																																	0													107	90	96					11																	49175878		2201	4295	6496	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1790G>A	11.37:g.49175878C>T	ENSP00000256999:p.Cys597Tyr		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.C597Y	ENST00000256999.2	37	c.1790	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808747	0.50421	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	T;T;T;T;T	0.27720	1.65;1.65;1.65;1.65;1.65	3.62	3.62	0.41486	Transferrin receptor-like, dimerisation domain (1);	0.000000	0.64402	D	0.000007	T	0.28732	0.0712	N	0.05259	-0.085	0.41612	D	0.988911	D;D;D;B;D	0.89917	0.98;0.999;0.98;0.225;1.0	P;D;P;B;D	0.91635	0.782;0.948;0.844;0.049;0.999	T	0.06041	-1.0849	10	0.09843	T	0.71	.	13.124	0.59342	0.0:1.0:0.0:0.0	.	582;582;597;597;12	Q04609-9;Q04609-7;Q04609-8;Q04609;Q04609-3	.;.;.;FOLH1_HUMAN;.	Y	597;597;582;289;582	ENSP00000256999:C597Y;ENSP00000349129:C597Y;ENSP00000344131:C582Y;ENSP00000344086:C289Y;ENSP00000431463:C582Y	ENSP00000256999:C597Y	C	-	2	0	FOLH1	49132454	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.163000	0.50763	2.044000	0.60594	0.404000	0.27445	TGT	FOLH1	-	superfamily_TFR-like_dimer_dom	ENSG00000086205		0.383	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	40	0	C	NM_004476		49175878	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	26.67	44	16	SNP	1.000	T	T	49175878	C	T	49175878	3	4	87	1	0	0	0	0	1	0	0	0	6001	478	17	3	478	3	FOLH1	11	49175878	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	908866	49175878	85830638	1126	24250											
OR5D14	219436	genome.wustl.edu	37	chr11	55563075	55563075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcatggagcccacctttgCccttttaggtttcacagatt	8	13	9	11	0	1	1	1	0	0	1	1	3	1	2	3	2	3	2	3	2	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:55563075C>T	ENST00000335605.1	+	1	44	c.44C>T	c.(43-45)gCc>gTc	p.A15V		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCCACCTTTGCCCTTTTAGGT	0.418																																																	0													117	115	116					11																	55563075		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.44C>T	11.37:g.55563075C>T	ENSP00000334456:p.Ala15Val		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A15V	ENST00000335605.1	37	c.44	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	c	11.25	1.584199	0.28268	.	.	ENSG00000186113	ENST00000335605	T	0.00543	6.68	5.07	-3.1	0.05315	.	0.711731	0.12214	N	0.489004	T	0.00144	0.0004	N	0.00157	-1.96	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37572	-0.9700	10	0.39692	T	0.17	-1.0203	6.1742	0.20434	0.1453:0.2053:0.0:0.6494	.	15	Q8NGL3	OR5DE_HUMAN	V	15	ENSP00000334456:A15V	ENSP00000334456:A15V	A	+	2	0	OR5D14	55319651	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.733000	0.04898	-0.421000	0.07416	-0.158000	0.13435	GCC	OR5D14	-	NULL	ENSG00000186113		0.418	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0	55	0	C	NM_001004735		55563075	1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	15.15	56	10	SNP	0.000	T	T	55563075	C	T	55563075	3	4	87	1	0	0	0	0	1	0	0	0	11194	739	26	3	46	3	OR5D14	11	55563075	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6387197	55563075	79443441	1127	24251											
OR5I1	10798	genome.wustl.edu	37	chr11	55703222	55703223	+	In_Frame_Ins	INS	-	-	GAT																															agaagaatgaaaaagtaggaINSgatgatgatgatgataaaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:55703222_55703223insGAT	ENST00000301532.3	-	1	653_654	c.654_655insATC	c.(652-657)atctcc>atcATCtcc	p.218_219insI		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	218					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I218I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAAAAGTAGGAGATGATGATGA	0.436																																																	1	Substitution - coding silent(1)	large_intestine(1)																																								SO:0001652	inframe_insertion	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.652_654dupATC	11.37:g.55703229_55703231dupGAT	ENSP00000301532:p.Ile218_Ile218dup		Q6IEU4	In_Frame_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.218in_frame_insI	ENST00000301532.3	37	c.655_654	CCDS7949.1	11																																																																																			OR5I1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167825		0.436	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1		0	25	0	-	NM_006637		55703223	-1	tier1		no_errors	ENST00000301532	ensembl	human	known	74_37	in_frame_ins	12.90	27	4	INS	0.977:0.940	GAT	GAT	55703223	-	GAT	55703222	7	5	87	1	0	1	1	0	0	0	0	0	11203	304	11	0	292	0	OR5I1	11	55703222	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	140147	55703222	79303294	1128	24252											
OR5M3	219482	genome.wustl.edu	37	chr11	56237709	56237709	+	Frame_Shift_Del	DEL	T	T	-																															acaaccagcataagtaattgTttttttatctgataacaggt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:56237709delT	ENST00000312240.2	-	1	305	c.265delA	c.(265-267)acafs	p.T89fs		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TAAGTAATTGTTTTTTTATCT	0.363																																																	0													87	80	83					11																	56237709		2201	4295	6496	SO:0001589	frameshift_variant	0			AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"GPCR / Class A : Olfactory receptors"	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.265delA	11.37:g.56237709delT	ENSP00000312208:p.Thr89fs		B2RNM7|Q6IEW4|Q96RC0	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T89fs	ENST00000312240.2	37	c.265	CCDS31532.1	11																																																																																			OR5M3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174937		0.363	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M3	HGNC	protein_coding	OTTHUMT00000391639.1		0	89	0	T	NM_001004742		56237709	-1	tier1		no_errors	ENST00000312240	ensembl	human	known	74_37	frame_shift_del	16.05	68	13	DEL	0.002	-	-	56237709	T	-	56237709	7	5	87	1	0	1	0	1	0	0	0	0	11214	1725	60	0	660	0	OR5M3	11	56237709	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	534487	56237709	78768807	1129	24253											
LRRC55	219527	genome.wustl.edu	37	chr11	56949426	56949426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagctgccttcctgtgtCacagactctcgattccatgg	7	13	9	12	1	2	1	1	0	1	1	5	2	4	1	3	1	2	2	3	1	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:56949426C>T	ENST00000497933.1	+	1	206	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CTTCCTGTGTCACAGACTCTC	0.587																																																	0													81	63	69					11																	56949426		2201	4296	6497	SO:0001583	missense	0				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.59C>T	11.37:g.56949426C>T	ENSP00000419542:p.Ser20Leu		A7E2U7|B2RN81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S20L	ENST00000497933.1	37	c.59	CCDS31539.1	11	.	.	.	.	.	.	.	.	.	.	C	7.856	0.724975	0.15439	.	.	ENSG00000183908	ENST00000497933	T	0.61274	0.12	5.51	4.59	0.56863	.	3.129100	0.01158	N	0.006573	T	0.63379	0.2506	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.55541	-0.8125	7	0.56958	D	0.05	.	12.6695	0.56860	0.0:0.8341:0.1659:0.0	.	.	.	.	L	20	ENSP00000419542:S20L	ENSP00000419542:S20L	S	+	2	0	LRRC55	56706002	0.000000	0.05858	0.003000	0.11579	0.091000	0.18340	-0.098000	0.11024	1.442000	0.47568	0.655000	0.94253	TCA	LRRC55	-	NULL	ENSG00000183908		0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	-	0	89	0	C	NM_001005210		56949426	1	tier1	-	no_errors	ENST00000497933	ensembl	human	known	74_37	missense	14.08	61	10	SNP	0.017	T	T	56949426	C	T	56949426	3	4	87	1	0	0	0	0	1	0	0	0	9046	838	29	3	61	3	LRRC55	11	56949426	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	711717	56949426	78057090	1130	24254											
SLC43A1	8501	genome.wustl.edu	37	chr11	57254668	57254668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactgcaggcctgtcagcGtcccaaagtggttggatggg	7	8	17	9	1	1	0	1	0	0	0	2	2	2	2	2	5	2	2	2	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:57254668G>A	ENST00000278426.3	-	14	1788	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	SLC43A1_ENST00000528450.1_Missense_Mutation_p.T478M	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCCTGTCAGCGTCCCAAAGTG	0.612																																																	0													105	77	87					11																	57254668		2201	4296	6497	SO:0001583	missense	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1433C>T	11.37:g.57254668G>A	ENSP00000278426:p.Thr478Met			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.T478M	ENST00000278426.3	37	c.1433	CCDS7958.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.169087|4.169087	0.78339|0.78339	.|.	.|.	ENSG00000149150|ENSG00000149150	ENST00000525764|ENST00000278426;ENST00000528450	.|T;T	.|0.61742	.|0.08;0.08	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Major facilitator superfamily domain, general substrate transporter (1);	.|0.188031	.|0.44902	.|D	.|0.000414	T|T	0.70360|0.70360	0.3215|0.3215	M|M	0.65498|0.65498	2.005|2.005	0.47037|0.47037	D|D	0.999294|0.999294	.|D	.|0.62365	.|0.991	.|P	.|0.61940	.|0.896	T|T	0.72994|0.72994	-0.4122|-0.4122	5|10	.|0.66056	.|D	.|0.02	-19.5839|-19.5839	12.8552|12.8552	0.57882|0.57882	0.0:0.1645:0.8355:0.0|0.0:0.1645:0.8355:0.0	.|.	.|478	.|O75387	.|LAT3_HUMAN	C|M	181|478	.|ENSP00000278426:T478M;ENSP00000435673:T478M	.|ENSP00000278426:T478M	R|T	-|-	1|2	0|0	SLC43A1|SLC43A1	57011244|57011244	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.977000|0.977000	0.68977|0.68977	3.671000|3.671000	0.54576|0.54576	2.560000|2.560000	0.86352|0.86352	0.462000|0.462000	0.41574|0.41574	CGC|ACG	SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000149150		0.612	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1	-	0	98	0	G	NM_003627		57254668	-1	tier1	-	no_errors	ENST00000278426	ensembl	human	known	74_37	missense	12.82	68	10	SNP	0.997	A	A	57254668	G	A	57254668	3	1	87	1	0	0	0	0	1	0	0	0	14677	1145	40	1	254	1	SLC43A1	11	57254668	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	305242	57254668	77751848	1131	24255											
SLC43A1	8501	genome.wustl.edu	37	chr11	57265290	57265290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgagggccattaacgtgGagcgcaggttcccaaacatg	11	8	12	10	2	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:57265290G>T	ENST00000278426.3	-	6	849	c.494C>A	c.(493-495)tCc>tAc	p.S165Y	SLC43A1_ENST00000528450.1_Missense_Mutation_p.S165Y|SLC43A1_ENST00000533515.1_5'UTR	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CATTAACGTGGAGCGCAGGTT	0.552																																																	0													128	98	108					11																	57265290		2201	4296	6497	SO:0001583	missense	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.494C>A	11.37:g.57265290G>T	ENSP00000278426:p.Ser165Tyr			Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S165Y	ENST00000278426.3	37	c.494	CCDS7958.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945809	0.92593	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.60299	0.2;0.2	5.51	5.51	0.81932	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.76681	0.4021	M	0.78456	2.415	0.52501	D	0.999955	D	0.89917	1.0	D	0.87578	0.998	T	0.78112	-0.2331	10	0.54805	T	0.06	-27.7328	16.3713	0.83361	0.0:0.0:1.0:0.0	.	165	O75387	LAT3_HUMAN	Y	165	ENSP00000278426:S165Y;ENSP00000435673:S165Y	ENSP00000278426:S165Y	S	-	2	0	SLC43A1	57021866	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	8.567000	0.90737	2.590000	0.87494	0.650000	0.86243	TCC	SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000149150		0.552	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1		0	37	0	G	NM_003627		57265290	-1			no_errors	ENST00000278426	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	57265290	G	T	57265290	3	4	87	1	0	0	0	0	1	0	0	0	14677	1174	41	3	1225	3	SLC43A1	11	57265290	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10622	57265290	77741226	1132	24256											
OR9Q2	219957	genome.wustl.edu	37	chr11	57958566	57958566	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaagtggtgattattgtgTttgctcttttcgtcatgcct	6	18	11	6	1	2	1	1	1	1	0	3	2	2	2	1	2	2	2	1	2	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:57958566T>G	ENST00000311591.3	+	1	661	c.604T>G	c.(604-606)Ttt>Gtt	p.F202V		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GATTATTGTGTTTGCTCTTTT	0.473																																																	0													191	191	191					11																	57958566		2201	4296	6497	SO:0001583	missense	0			AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"GPCR / Class A : Olfactory receptors"	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.604T>G	11.37:g.57958566T>G	ENSP00000308714:p.Phe202Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F202V	ENST00000311591.3	37	c.604	CCDS31544.1	11	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112158	0.37242	.	.	ENSG00000186513	ENST00000311591	T	0.00054	8.8	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.00144	0.0004	N	0.04063	-0.285	0.28901	N	0.893274	D	0.89917	1.0	D	0.91635	0.999	T	0.59408	-0.7460	10	0.02654	T	1	-17.7037	6.4097	0.21684	0.0:0.083:0.1593:0.7576	.	202	Q8NGE9	OR9Q2_HUMAN	V	202	ENSP00000308714:F202V	ENSP00000308714:F202V	F	+	1	0	OR9Q2	57715142	0.001000	0.12720	0.981000	0.43875	0.588000	0.36517	0.737000	0.26144	2.182000	0.69389	0.460000	0.39030	TTT	OR9Q2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186513		0.473	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q2	HGNC	protein_coding	OTTHUMT00000394540.1	-	0	39	0	T	NM_001005283		57958566	1	tier1	-	no_errors	ENST00000311591	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.794	G	G	57958566	T	G	57958566	3	3	87	1	0	0	0	0	1	0	0	0	11295	1725	60	4	606	4	OR9Q2	11	57958566	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	693276	57958566	77047950	1133	24257											
DDB1	1642	genome.wustl.edu	37	chr11	61071386	61071386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaagcagcagcactgagCgcataaggtcgcccaccagg	12	3	13	13	2	0	1	0	1	0	0	1	1	0	1	2	3	4	5	2	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61071386C>T	ENST00000301764.7	-	22	3180	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	DDB1_ENST00000538470.1_5'Flank|DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000450997.2_Missense_Mutation_p.R239H	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	928	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCACTGAGCGCATAAGGTC	0.567								Nucleotide excision repair (NER)																																									0													167	158	161					11																	61071386		2203	4299	6502	SO:0001583	missense	0			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"damage-specific DNA binding protein 1 (127kD)"			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2783G>A	11.37:g.61071386C>T	ENSP00000301764:p.Arg928His		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R928H	ENST00000301764.7	37	c.2783	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.666582	0.96745	.	.	ENSG00000167986	ENST00000301764;ENST00000450997;ENST00000539332	T;T;T	0.44083	0.93;1.51;1.25	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.974;0.998	T	0.72023	-0.4415	10	0.46703	T	0.11	-20.7602	20.3207	0.98668	0.0:1.0:0.0:0.0	.	239;928	B4DG00;Q16531	.;DDB1_HUMAN	H	928;239;94	ENSP00000301764:R928H;ENSP00000388705:R239H;ENSP00000439787:R94H	ENSP00000301764:R928H	R	-	2	0	DDB1	60827962	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.813000	0.96785	0.561000	0.74099	CGC	DDB1	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000167986		0.567	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	-	0	66	0	C	NM_001923		61071386	-1	tier1	-	no_errors	ENST00000301764	ensembl	human	known	74_37	missense	14.67	64	11	SNP	1.000	T	T	61071386	C	T	61071386	3	4	87	1	0	0	0	0	1	0	0	0	4332	768	27	1	663	1	DDB1	11	61071386	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3112820	61071386	73935130	1134	24258											
DAK	26007	genome.wustl.edu	37	chr11	61109365	61109365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcgagctctcagccgaCgaggtggagctgggcctggg	6	7	16	12	3	1	0	1	0	1	0	3	4	1	1	3	4	3	2	3	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61109365C>T	ENST00000394900.3	+	7	865	c.636C>T	c.(634-636)gaC>gaT	p.D212D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	212	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTCAGCCGACGAGGTGGAGC	0.592																																																	0													107	99	102					11																	61109365		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"dihydroxyacetone kinase 2 homolog (yeast)"				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.636C>T	11.37:g.61109365C>T			Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP	p.D212	ENST00000394900.3	37	c.636	CCDS8003.1	11																																																																																			DAK	-	pfam_Dak1,tigrfam_DhaK_ATP	ENSG00000149476		0.592	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	HGNC	protein_coding	OTTHUMT00000394425.4	-	0	38	0	C	NM_015533		61109365	1	tier1	-	no_errors	ENST00000394900	ensembl	human	known	74_37	silent	21.15	41	11	SNP	0.200	T	T	61109365	C	T	61109365	2	4	87	1	0	0	0	0	0	0	0	1	4237	535	19	1		1	DAK	11	61109365	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	37979	61109365	73897151	1135	24259											
CPSF7	79869	genome.wustl.edu	37	chr11	61183898	61183898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacactggggggcttatccAcacgagcagatgagggtaca	11	6	14	10	1	0	2	0	1	0	1	1	3	1	2	1	4	2	4	1	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61183898A>G	ENST00000394888.4	-	6	816	c.644T>C	c.(643-645)gTg>gCg	p.V215A	CPSF7_ENST00000340437.4_Missense_Mutation_p.V258A|CPSF7_ENST00000448745.1_Missense_Mutation_p.V206A|CPSF7_ENST00000439958.3_Missense_Mutation_p.V206A	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	215					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GGGCTTATCCACACGAGCAGA	0.582																																																	0													111	107	108					11																	61183898		2202	4299	6501	SO:0001583	missense	0				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"RNA binding motif (RRM) containing"	30098	protein-coding gene	gene with protein product	"pre mRNA cleavage factor I, 59 kDa subunit", "cleavage factor Im complex 59 kDa subunit"					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.644T>C	11.37:g.61183898A>G	ENSP00000378352:p.Val215Ala		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V258A	ENST00000394888.4	37	c.773	CCDS44619.1	11	.	.	.	.	.	.	.	.	.	.	A	4.104	0.017392	0.07959	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585	.	.	.	5.14	5.14	0.70334	.	0.359244	0.26289	N	0.025238	T	0.34337	0.0894	N	0.11427	0.14	0.80722	D	1	B;B;B;B	0.14012	0.001;0.005;0.009;0.009	B;B;B;B	0.16289	0.004;0.003;0.015;0.006	T	0.21827	-1.0234	9	0.06236	T	0.91	-3.1392	13.3459	0.60573	1.0:0.0:0.0:0.0	.	206;215;258;206	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	A	258;215;206;206;206;206;206	.	ENSP00000345412:V258A	V	-	2	0	CPSF7	60940474	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.074000	0.50065	2.153000	0.67306	0.533000	0.62120	GTG	CPSF7	-	NULL	ENSG00000149532		0.582	CPSF7-006	KNOWN	basic|CCDS	protein_coding	CPSF7	HGNC	protein_coding	OTTHUMT00000347835.2	-	0	51	0	A	NM_024811		61183898	-1	tier1	-	no_errors	ENST00000340437	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	G	G	61183898	A	G	61183898	3	3	87	1	0	0	0	0	1	0	0	0	3837	159	6	4	787	4	CPSF7	11	61183898	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	74533	61183898	73822618	1136	24260											
DAGLA	747	genome.wustl.edu	37	chr11	61493483	61493483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaggcaccgcttagaggagGgtcaagccaccagctggtcg	9	5	15	12	2	1	1	1	0	0	1	2	2	1	2	3	4	2	4	3	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61493483G>A	ENST00000257215.5	+	6	681	c.565G>A	c.(565-567)Ggt>Agt	p.G189S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	189					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTTAGAGGAGGGTCAAGCCAC	0.612																																																	0													93	85	88					11																	61493483		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.565G>A	11.37:g.61493483G>A	ENSP00000257215:p.Gly189Ser		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.G189S	ENST00000257215.5	37	c.565	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.180964	0.94846	.	.	ENSG00000134780	ENST00000257215	T	0.23147	1.92	4.33	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.37404	0.1002	N	0.22421	0.69	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.22977	-1.0201	10	0.39692	T	0.17	-10.2922	17.2282	0.86977	0.0:0.0:1.0:0.0	.	189	Q9Y4D2	DGLA_HUMAN	S	189	ENSP00000257215:G189S	ENSP00000257215:G189S	G	+	1	0	DAGLA	61250059	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.128000	0.94424	2.151000	0.67156	0.462000	0.41574	GGT	DAGLA	-	NULL	ENSG00000134780		0.612	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1		0	30	0	G	NM_006133		61493483	1			no_errors	ENST00000257215	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	61493483	G	A	61493483	3	1	87	1	0	0	0	0	1	0	0	0	4235	1232	43	3	583	3	DAGLA	11	61493483	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	309585	61493483	73513033	1137	24261											
C11orf9	745	genome.wustl.edu	37	chr11	61543873	61543873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccaccgctaacaacatgCgtaagaagggcaagcccaac	16	3	9	13	2	0	2	0	0	0	2	0	2	0	2	3	1	5	3	3	1	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:61543873C>T	ENST00000278836.5	+	10	1564	c.1468C>T	c.(1468-1470)Cgt>Tgt	p.R490C	MYRF_ENST00000389602.4_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.R481C|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.R115C	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	490					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAACAACATGCGTAAGAAGGG	0.647											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24	24	24					11																	61543873		2202	4299	6501	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1468C>T	11.37:g.61543873C>T	ENSP00000278836:p.Arg490Cys	1054	O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.R490C	ENST00000278836.5	37	c.1468	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089351	0.76756	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.66280	-0.01;0.01;-0.2	4.57	3.64	0.41730	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.82102	0.4964	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	D	0.85264	0.1052	10	0.87932	D	0	-16.8577	11.6914	0.51519	0.4918:0.5082:0.0:0.0	.	481;490	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	C	490;481;115	ENSP00000278836:R490C;ENSP00000265460:R481C;ENSP00000333261:R115C	ENSP00000265460:R481C	R	+	1	0	C11orf9	61300449	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.812000	0.38952	1.034000	0.39945	0.455000	0.32223	CGT	MYRF	-	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	ENSG00000124920		0.647	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2	-	0	54	0	C	NM_013279		61543873	1	tier1	-	no_errors	ENST00000278836	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	T	T	61543873	C	T	61543873	3	4	87	1	0	0	0	0	1	0	0	0	1676	768	27	1	1529	1	C11orf9	11	61543873	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	50390	61543873	73462643	1138	24262											
PPP1R14B	26472	genome.wustl.edu	37	chr11	64014017	64014017	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgggccctcatcgtccgcCccgcccgggccctctcctgc	2	7	10	22	4	2	0	1	0	1	0	5	0	3	0	7	2	1	0	7	2	0	0	rs1063811	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64014017C>G	ENST00000309318.3	-	1	396	c.129G>C	c.(127-129)ggG>ggC	p.G43G	RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000542235.1_5'Flank|PPP1R14B_ENST00000392210.2_5'Flank|RP11-783K16.13_ENST00000545800.1_lincRNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	43					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						CATCGTCCGCCCCGCCCGGGC	0.721																																																	0																																										SO:0001819	synonymous_variant	0			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.129G>C	11.37:g.64014017C>G			Q504S7|Q7KZD7	Silent	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.G43	ENST00000309318.3	37	c.129	CCDS31596.1	11																																																																																			PPP1R14B	-	superfamily_PP1_inhibitor	ENSG00000173457		0.721	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2		0	49	0	C	NM_138689		64014017	-1			no_errors	ENST00000309318	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.000	G	G	64014017	C	G	64014017	2	3	87	1	0	0	0	0	0	0	0	1	12402	610	22	5		5	PPP1R14B	11	64014017	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2470144	64014017	70992499	1139	24263											
RPS6KA4	8986	genome.wustl.edu	37	chr11	64126867	64126869	+	In_Frame_Del	DEL	GAG	GAG	-																															cagccaacctgaccgggcacGaggagaaggtgagcgtggag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64126867_64126869delGAG	ENST00000334205.4	+	2	138_140	c.73_75delGAG	c.(73-75)gagdel	p.E26del	RPS6KA4_ENST00000528057.1_In_Frame_Del_p.E26del|RPS6KA4_ENST00000294261.4_In_Frame_Del_p.E26del	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	26					axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GACCGGGCACGAGGAGAAGGTGA	0.714																																																	0																																										SO:0001651	inframe_deletion	0			AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"ribosomal protein S6 kinase, 90kD, polypeptide 4"			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.73_75delGAG	11.37:g.64126870_64126872delGAG	ENSP00000333896:p.Glu26del		A8K7Z8|O75585|Q53ES8	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.E26in_frame_del	ENST00000334205.4	37	c.73_75	CCDS8073.1	11																																																																																			RPS6KA4	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II	ENSG00000162302		0.714	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA4	HGNC	protein_coding	OTTHUMT00000106246.2		0	90	0	GAG	NM_003942		64126869	1	tier1		no_errors	ENST00000334205	ensembl	human	known	74_37	in_frame_del	28.79	47	19	DEL	1.000:1.000:1.000	-	-	64126869	GAG	-	64126867	7	5	87	1	0	1	0	1	0	0	0	0	13698	1059	37	0	79	0	RPS6KA4	11	64126867	In_Frame_Del	DEL	GAG	TCGA-L5-A8NM-01A-11D-A37C-09	112850	64126867	70879649	1140	24264											
CDC42BPG	55561	genome.wustl.edu	37	chr11	64599932	64599932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtccctggattgggCatggataacatcagaggcca	10	8	14	9	0	1	1	1	0	0	1	2	3	2	3	2	6	1	2	2	6	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64599932C>A	ENST00000342711.5	-	27	3054	c.3055G>T	c.(3055-3057)Gcc>Tcc	p.A1019S	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTGGATTGGGCATGGATAACA	0.607																																																	0													69	72	71					11																	64599932		2201	4297	6498	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.3055G>T	11.37:g.64599932C>A	ENSP00000345133:p.Ala1019Ser			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.A1019S	ENST00000342711.5	37	c.3055	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368238	0.61513	.	.	ENSG00000171219	ENST00000342711	T	0.78481	-1.18	4.06	4.06	0.47325	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.42294	D	0.000729	D	0.87641	0.6228	M	0.80422	2.495	0.50171	D	0.999858	D	0.76494	0.999	D	0.83275	0.996	D	0.89449	0.3729	10	0.87932	D	0	.	14.1547	0.65410	0.0:1.0:0.0:0.0	.	1019	Q6DT37	MRCKG_HUMAN	S	1019	ENSP00000345133:A1019S	ENSP00000345133:A1019S	A	-	1	0	CDC42BPG	64356508	1.000000	0.71417	0.962000	0.40283	0.072000	0.16883	6.829000	0.75314	2.277000	0.76020	0.655000	0.94253	GCC	CDC42BPG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000171219		0.607	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0	58	0	C	XM_290516		64599932	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	9.38	58	6	SNP	1.000	A	A	64599932	C	A	64599932	3	1	87	1	0	0	0	0	1	0	0	0	3081	710	25	3	1644	3	CDC42BPG	11	64599932	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	473065	64599932	70406584	1141	24265											
CDC42BPG	55561	genome.wustl.edu	37	chr11	64606221	64606221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgtgctgctcgccagccGctcccagtccacgccttcga	4	7	11	19	5	0	0	0	0	0	0	4	1	2	0	6	1	3	3	6	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64606221G>A	ENST00000342711.5	-	8	1029	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CTCGCCAGCCGCTCCCAGTCC	0.622																																																	0													54	54	54					11																	64606221		2200	4296	6496	SO:0001583	missense	0			AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"Pleckstrin homology (PH) domain containing"	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1030C>T	11.37:g.64606221G>A	ENSP00000345133:p.Arg344Trp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R344W	ENST00000342711.5	37	c.1030	CCDS31601.1	11	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554062	0.45487	.	.	ENSG00000171219	ENST00000342711	T	0.25250	1.81	4.72	1.59	0.23543	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.570128	0.15532	N	0.257433	T	0.29850	0.0746	M	0.65320	2	0.28367	N	0.92019	D	0.62365	0.991	P	0.47528	0.549	T	0.17349	-1.0372	10	0.87932	D	0	.	8.0109	0.30353	0.0:0.1446:0.3826:0.4727	.	344	Q6DT37	MRCKG_HUMAN	W	344	ENSP00000345133:R344W	ENSP00000345133:R344W	R	-	1	2	CDC42BPG	64362797	0.010000	0.17322	0.934000	0.37439	0.290000	0.27261	0.995000	0.29706	0.116000	0.18110	0.561000	0.74099	CGG	CDC42BPG	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C	ENSG00000171219		0.622	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPG	HGNC	protein_coding	OTTHUMT00000105352.4	-	0	36	0	G	XM_290516		64606221	-1	tier1	-	no_errors	ENST00000342711	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.994	A	A	64606221	G	A	64606221	3	1	87	1	0	0	0	0	1	0	0	0	3081	1086	38	1	3745	1	CDC42BPG	11	64606221	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6289	64606221	70400295	1142	24266											
ATG2A	23130	genome.wustl.edu	37	chr11	64677266	64677266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgaagctgctcagccCgcacggcctggcccgcccag	6	3	12	20	4	1	0	1	0	0	0	1	1	1	0	6	2	4	3	6	2	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64677266C>A	ENST00000377264.3	-	14	2106	c.1994G>T	c.(1993-1995)cGg>cTg	p.R665L	ATG2A_ENST00000421419.2_Missense_Mutation_p.R665L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	665					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CTGCTCAGCCCGCACGGCCTG	0.701																																																	0													25	29	28					11																	64677266		2201	4296	6497	SO:0001583	missense	0				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"ATG2 autophagy related 2 homolog A (S. cerevisiae)"			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1994G>T	11.37:g.64677266C>A	ENSP00000366475:p.Arg665Leu		O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R665L	ENST00000377264.3	37	c.1994	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181266	0.78677	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.14391	2.51;2.51	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.30603	0.0770	L	0.55481	1.735	0.48901	D	0.999723	D	0.89917	1.0	D	0.81914	0.995	T	0.01508	-1.1337	10	0.72032	D	0.01	.	12.4406	0.55623	0.0:1.0:0.0:0.0	.	665	Q2TAZ0	ATG2A_HUMAN	L	665	ENSP00000410522:R665L;ENSP00000366475:R665L	ENSP00000366475:R665L	R	-	2	0	ATG2A	64433842	1.000000	0.71417	0.987000	0.45799	0.896000	0.52359	6.069000	0.71209	2.386000	0.81285	0.561000	0.74099	CGG	ATG2A	-	NULL	ENSG00000110046		0.701	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	-	0	71	0	C	NM_015104		64677266	-1	tier1	-	no_errors	ENST00000421419	ensembl	human	known	74_37	missense	22.03	46	13	SNP	0.998	A	A	64677266	C	A	64677266	3	1	87	1	0	0	0	0	1	0	0	0	1094	652	23	2	3934	2	ATG2A	11	64677266	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	71045	64677266	70329250	1143	24267											
PPP2R5B	5526	genome.wustl.edu	37	chr11	64697795	64697795	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgttcttctcttgcaggTtcatctatgaattcgagcac	7	15	8	11	2	4	1	1	1	3	0	6	2	4	1	0	1	3	4	0	1	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:64697795T>C	ENST00000164133.2	+	7	1346	c.724T>C	c.(724-726)Ttc>Ctc	p.F242L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	242					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CTCTTGCAGGTTCATCTATGA	0.577																																																	0													117	104	109					11																	64697795		2201	4297	6498	SO:0001630	splice_region_variant	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.723-1T>C	11.37:g.64697795T>C			Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.F242L	ENST00000164133.2	37	c.724	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140259	0.77775	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.81	3.81	0.43845	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	M	0.91354	3.2	0.80722	D	1	P	0.35844	0.524	B	0.40677	0.337	T	0.77905	-0.2413	9	0.72032	D	0.01	-24.2663	11.1935	0.48698	0.0:0.0:0.0:1.0	.	242	Q15173	2A5B_HUMAN	L	242;269;242	.	ENSP00000164133:F242L	F	+	1	0	PPP2R5B	64454371	1.000000	0.71417	0.999000	0.59377	0.422000	0.31414	7.342000	0.79310	1.962000	0.57031	0.533000	0.62120	TTC	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.577	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	-	0	44	0	T	NM_006244	Missense_Mutation	64697795	1	tier1	-	no_errors	ENST00000164133	ensembl	human	known	74_37	missense	18.60	35	8	SNP	1.000	C	C	64697795	T	C	64697795	5	2	87	1	0	0	0	0	0	0	1	0	12435	1739	60	4	746	4	PPP2R5B	11	64697795	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	20529	64697795	70308721	1144	24268											
LTBP3	4054	genome.wustl.edu	37	chr11	65320669	65320669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttaagcctcttgtagccCtggggacagtcagcgcccac	7	9	11	14	1	2	0	1	0	1	0	2	1	2	1	3	2	3	2	3	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65320669C>T	ENST00000301873.5	-	5	1297	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	LTBP3_ENST00000322147.4_Silent_p.Q343Q|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	343					bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCTTGTAGCCCTGGGGACAGT	0.637																																																	0													82	76	78					11																	65320669		2201	4297	6498	SO:0001819	synonymous_variant	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1029G>A	11.37:g.65320669C>T			O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q343	ENST00000301873.5	37	c.1029	CCDS44647.1	11																																																																																			LTBP3	-	superfamily_TB_dom	ENSG00000168056		0.637	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0	61	0	C	NM_021070		65320669	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	silent	13.11	53	8	SNP	1.000	T	T	65320669	C	T	65320669	2	4	87	1	0	0	0	0	0	0	0	1	9110	680	24	3		3	LTBP3	11	65320669	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	622874	65320669	69685847	1145	24269											
FOSL1	8061	genome.wustl.edu	37	chr11	65660629	65660629	+	Frame_Shift_Del	DEL	C	C	-																															gccactggtactgcctgtgtCcccctccttggctccttccg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65660629delC	ENST00000312562.2	-	4	730	c.544delG	c.(544-546)gacfs	p.D182fs	FOSL1_ENST00000532401.1_3'UTR|FOSL1_ENST00000448083.2_Frame_Shift_Del_p.D80fs|FOSL1_ENST00000531493.1_Frame_Shift_Del_p.D146fs	NM_005438.3	NP_005429.1	P15407	FOSL1_HUMAN	FOS-like antigen 1	182					cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|chemotaxis (GO:0006935)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)|vitellogenesis (GO:0007296)	cytosol (GO:0005829)|neuron projection (GO:0043005)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	10				READ - Rectum adenocarcinoma(159;0.168)		CTGCCTGTGTCCCCCTCCTTG	0.622																																																	0													38	36	37					11																	65660629		2201	4296	6497	SO:0001589	frameshift_variant	0			BC016648	CCDS8121.1, CCDS73324.1	11q13	2013-01-10			ENSG00000175592	ENSG00000175592		"basic leucine zipper proteins"	13718	protein-coding gene	gene with protein product		136515				2107490	Standard	XM_005274311		Approved	fra-1	uc001ogg.1	P15407	OTTHUMG00000166715	ENST00000312562.2:c.544delG	11.37:g.65660629delC	ENSP00000310170:p.Asp182fs		B4DR11|Q6FG51	Frame_Shift_Del	DEL	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.D182fs	ENST00000312562.2	37	c.544	CCDS8121.1	11																																																																																			FOSL1	-	NULL	ENSG00000175592		0.622	FOSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL1	HGNC	protein_coding	OTTHUMT00000391168.2		0	42	0	C	NM_005438		65660629	-1	tier1		no_errors	ENST00000312562	ensembl	human	known	74_37	frame_shift_del	25.00	27	9	DEL	0.008	-	-	65660629	C	-	65660629	7	5	87	1	0	1	0	1	0	0	0	0	6009	855	30	0	275	0	FOSL1	11	65660629	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	339960	65660629	69345887	1146	24270											
CATSPER1	117144	genome.wustl.edu	37	chr11	65792817	65792817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataggggaagactcctgtaCgagaagcagcagggccgggg	11	4	18	8	2	0	2	0	0	0	2	1	5	1	3	2	5	3	3	2	5	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65792817C>T	ENST00000312106.5	-	1	1171	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	345					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACTCCTGTACGAGAAGCAGC	0.597																																																	0													120	97	105					11																	65792817		2201	4296	6497	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"Voltage-gated ion channels / Cation channels, sperm associated"	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1034G>A	11.37:g.65792817C>T	ENSP00000309052:p.Arg345His		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.R345H	ENST00000312106.5	37	c.1034	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866270	0.02590	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	2.15	-4.29	0.03721	.	.	.	.	.	D	0.83524	0.5273	N	0.01576	-0.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.76187	-0.3051	9	0.16896	T	0.51	.	5.2396	0.15464	0.0:0.5208:0.1772:0.302	.	345	Q8NEC5	CTSR1_HUMAN	H	345	ENSP00000309052:R345H	ENSP00000309052:R345H	R	-	2	0	CATSPER1	65549393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.628000	0.02031	-1.542000	0.01725	-0.501000	0.04562	CGT	CATSPER1	-	NULL	ENSG00000175294		0.597	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0	46	0	C	NM_053054		65792817	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	missense	31.82	45	21	SNP	0.000	T	T	65792817	C	T	65792817	3	4	87	1	0	0	0	0	1	0	0	0	2694	536	19	1	1356	1	CATSPER1	11	65792817	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	132188	65792817	69213699	1147	24271											
SF3B2	10992	genome.wustl.edu	37	chr11	65827281	65827281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcccgatgtcgtggagaTgcacgatgtgacagcgcagg	8	7	16	10	5	0	2	0	1	0	1	2	5	0	2	1	3	2	2	1	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:65827281T>C	ENST00000322535.6	+	13	1479	c.1430T>C	c.(1429-1431)aTg>aCg	p.M477T	SF3B2_ENST00000528302.1_Missense_Mutation_p.M460T	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	477					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GTCGTGGAGATGCACGATGTG	0.542																																																	0													95	78	84					11																	65827281		2201	4295	6496	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"splicing factor 3b, subunit 2, 145kD"			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1430T>C	11.37:g.65827281T>C	ENSP00000318861:p.Met477Thr		A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.M477T	ENST00000322535.6	37	c.1430	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418405	0.83559	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.96	5.96	0.96718	Domain of unknown function DUF382 (1);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.72894	2.215	0.80722	D	1	D	0.63046	0.992	D	0.67103	0.949	T	0.78344	-0.2240	9	0.54805	T	0.06	-36.7628	14.3967	0.67015	0.0:0.0:0.0:1.0	.	477	Q13435	SF3B2_HUMAN	T	460;477;381	.	ENSP00000318861:M477T	M	+	2	0	SF3B2	65583857	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.562000	0.82300	2.284000	0.76573	0.528000	0.53228	ATG	SF3B2	-	pfam_DUF382	ENSG00000087365		0.542	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	-	0	34	0	T			65827281	1	tier1	-	no_errors	ENST00000322535	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	C	C	65827281	T	C	65827281	3	2	87	1	0	0	0	0	1	0	0	0	14196	1464	51	4	1480	4	SF3B2	11	65827281	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	34464	65827281	69179235	1148	24272											
RIN1	9610	genome.wustl.edu	37	chr11	66100117	66100117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgggtcactcggaacttgGtggcacagagctggttcagg	7	9	16	9	1	2	1	2	0	0	1	3	2	2	2	0	6	2	4	0	6	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66100117G>A	ENST00000311320.4	-	10	2108	c.1982C>T	c.(1981-1983)aCc>aTc	p.T661I	RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Missense_Mutation_p.T556I|RIN1_ENST00000530056.1_Missense_Mutation_p.T495I|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	661	Ras and 14-3-3 protein binding region.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCGGAACTTGGTGGCACAGAG	0.647																																																	0													107	113	111					11																	66100117		2200	4295	6495	SO:0001583	missense	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.1982C>T	11.37:g.66100117G>A	ENSP00000310406:p.Thr661Ile		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.T661I	ENST00000311320.4	37	c.1982	CCDS31614.1	11	.	.	.	.	.	.	.	.	.	.	G	17.68	3.450608	0.63290	.	.	ENSG00000174791	ENST00000311320;ENST00000424433;ENST00000530056	T;T;T	0.17854	2.25;2.25;2.25	5.03	4.11	0.48088	Ras-association (3);	0.899644	0.09615	N	0.778335	T	0.30541	0.0768	L	0.51422	1.61	0.28930	N	0.891647	P;D;P	0.61697	0.472;0.99;0.472	P;P;P	0.57846	0.636;0.828;0.636	T	0.08411	-1.0723	10	0.34782	T	0.22	-27.7741	11.2036	0.48756	0.0:0.0:0.8164:0.1836	.	495;292;661	E9PNR2;B4DW96;Q13671	.;.;RIN1_HUMAN	I	661;556;495	ENSP00000310406:T661I;ENSP00000400560:T556I;ENSP00000432798:T495I	ENSP00000310406:T661I	T	-	2	0	RIN1	65856693	0.990000	0.36364	1.000000	0.80357	0.995000	0.86356	0.857000	0.27831	1.238000	0.43771	0.462000	0.41574	ACC	RIN1	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000174791		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0	60	0	G	NM_004292		66100117	-1	tier1	-	no_errors	ENST00000311320	ensembl	human	known	74_37	missense	35.94	41	23	SNP	0.981	A	A	66100117	G	A	66100117	3	1	87	1	0	0	0	0	1	0	0	0	13416	1261	44	3	373	3	RIN1	11	66100117	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	272836	66100117	68906399	1149	24273											
PELI3	246330	genome.wustl.edu	37	chr11	66239923	66239923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtatacacatgatagCgacacagacatgttccaggt	13	9	11	8	1	0	2	0	1	0	1	1	4	1	3	1	2	2	2	1	2	3	4	rs370081441		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66239923C>T	ENST00000320740.7	+	5	598	c.438C>T	c.(436-438)agC>agT	p.S146S	PELI3_ENST00000524466.1_Silent_p.S146S|PELI3_ENST00000349459.6_Silent_p.S122S|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	146					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACATGATAGCGACACAGACA	0.552																																																	0								C	,	0,4400		0,0,2200	213	160	178		366,438	-4.9	0.9	11		178	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous,coding-synonymous	PELI3	NM_001098510.1,NM_145065.2	,	0,3,6492	TT,TC,CC		0.0349,0.0,0.0231	,	122/446,146/470	66239923	3,12987	2200	4295	6495	SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.438C>T	11.37:g.66239923C>T			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.S146	ENST00000320740.7	37	c.438	CCDS31615.1	11																																																																																			PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.552	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1		0	37	0	C	NM_145065		66239923	1			no_errors	ENST00000320740	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.894	T	T	66239923	C	T	66239923	2	4	87	1	0	0	0	0	0	0	0	1	11762	767	27	1		1	PELI3	11	66239923	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	139806	66239923	68766593	1150	24274											
ACTN3	254359	genome.wustl.edu	37	chr11	66314452	66314452	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtctgggggccggggaggGgcgctttgcgggcggcggcg	1	5	26	9	6	1	0	0	0	1	0	1	1	1	1	1	10	1	1	1	10	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66314452G>A	ENST00000310442.3	-	0	0				ZDHHC24_ENST00000526986.1_5'Flank|ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|ZDHHC24_ENST00000525925.1_5'Flank	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24							integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GCCGGGGAGGGGCGCTTTgcg	0.716																																																	0													7	10	9					11																	66314452		2141	4239	6380	SO:0001631	upstream_gene_variant	0			BC005015	CCDS8143.1	11q13.2	2008-05-02				ENSG00000174165		"Zinc fingers, DHHC-type"	27387	protein-coding gene	gene with protein product							Standard	NM_207340		Approved		uc001oin.1	Q6UX98			11.37:g.66314452G>A	Exception_encountered		Q6PEW7|Q9BSJ0	Missense_Mutation	SNP	NULL	p.G15E	ENST00000310442.3	37	c.44	CCDS8143.1	11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.716	ZDHHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN3	HGNC	protein_coding	OTTHUMT00000393089.1	-	0	108	0	G	NM_207340		66314452	1	tier1	-	no_errors	ENST00000511191	ensembl	human	known	74_37	missense	13.33	91	14	SNP	0.911	A	A	66314452	G	A	66314452	1	1	87	0	1	0	0	0	0	0	0	0	206	1232	43	3		3	ACTN3	11	66314452	5'Flank	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	74529	66314452	68692064	1151	24275											
CCDC87	55231	genome.wustl.edu	37	chr11	66359522	66359522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaggcccaactcatctGccagcctccagccctcacgc	9	5	9	18	1	3	0	2	0	1	0	4	2	4	1	5	2	4	0	5	2	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66359522G>A	ENST00000333861.3	-	1	1032	c.965C>T	c.(964-966)gCa>gTa	p.A322V	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	322					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAACTCATCTGCCAGCCTCCA	0.637																																																	0													33	39	37					11																	66359522		2198	4294	6492	SO:0001583	missense	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.965C>T	11.37:g.66359522G>A	ENSP00000328487:p.Ala322Val		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.A322V	ENST00000333861.3	37	c.965	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640150	0.87760	.	.	ENSG00000182791	ENST00000333861	T	0.30981	1.51	5.12	5.12	0.69794	.	0.169897	0.28230	N	0.016111	T	0.50990	0.1648	M	0.67953	2.075	0.36299	D	0.8569	D	0.76494	0.999	D	0.67103	0.949	T	0.56998	-0.7886	10	0.42905	T	0.14	.	13.9383	0.64039	0.0:0.0:1.0:0.0	.	322	Q9NVE4	CCD87_HUMAN	V	322	ENSP00000328487:A322V	ENSP00000328487:A322V	A	-	2	0	CCDC87	66116098	0.421000	0.25465	0.998000	0.56505	0.969000	0.65631	2.521000	0.45563	2.664000	0.90586	0.514000	0.50259	GCA	CCDC87	-	NULL	ENSG00000182791		0.637	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	-	0	32	0	G	NM_018219		66359522	-1	tier1	-	no_errors	ENST00000333861	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.998	A	A	66359522	G	A	66359522	3	1	87	1	0	0	0	0	1	0	0	0	2869	1319	46	3	1588	3	CCDC87	11	66359522	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	45070	66359522	68646994	1152	24276											
SPTBN2	6712	genome.wustl.edu	37	chr11	66472851	66472851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagccgggcccgccgCgccgctgccaactcgcacag	5	4	11	21	6	0	0	0	0	0	0	3	0	2	0	7	1	3	2	7	1	1	0	rs200001140		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66472851C>T	ENST00000533211.1	-	15	2227	c.1896G>A	c.(1894-1896)gcG>gcA	p.A632A	SPTBN2_ENST00000529997.1_Silent_p.A632A|SPTBN2_ENST00000309996.2_Silent_p.A632A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	632			LAAARR -> W (in SCA5). {ECO:0000269|PubMed:16429157}.		actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGCCCGCCGCGCCGCTGCCA	0.657													C|||	1	0.000199681	8e-04	0	5008	,	,		15457	0		0	False		,,,				2504	0																0													24	27	26					11																	66472851		2179	4266	6445	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"Pleckstrin homology (PH) domain containing"	11276	protein-coding gene	gene with protein product		604985	"spinocerebellar ataxia 5"	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1896G>A	11.37:g.66472851C>T			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A632	ENST00000533211.1	37	c.1896	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.657	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2		0	18	0	C	NM_006946		66472851	-1			no_errors	ENST00000309996	ensembl	human	known	74_37	silent	16.13	26	5	SNP	0.000	T	T	66472851	C	T	66472851	2	4	87	1	0	0	0	0	0	0	0	1	15167	755	27	1		1	SPTBN2	11	66472851	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	113329	66472851	68533665	1153	24277											
RCE1	9986	genome.wustl.edu	37	chr11	66612465	66612465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagcaccgtgcatgggcCtgggccctgctgtgttcacc	4	11	13	13	1	1	0	1	0	0	0	1	0	1	0	4	2	3	5	4	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66612465C>A	ENST00000309657.3	+	5	621	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	RCE1_ENST00000524506.1_Missense_Mutation_p.L193M|RCE1_ENST00000525356.1_Missense_Mutation_p.L70M	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	193					CAAX-box protein processing (GO:0071586)|proteolysis (GO:0006508)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|metalloendopeptidase activity (GO:0004222)			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGCATGGGCCTGGGCCCTGC	0.587																																																	0													55	48	50					11																	66612465		2200	4295	6495	SO:0001583	missense	0			AF121951	CCDS8151.1	11q13	2013-10-18	2013-10-18	2001-06-29	ENSG00000173653	ENSG00000173653			13721	protein-coding gene	gene with protein product	"farnesylated protein-converting enzyme 2", "prenyl protein-specific endoprotease 2", "RCE1 homolog, prenyl protein protease", "CAAX prenyl protease 2"	605385	"RCE1 (S. Cerevisiae) homolog, prenyl protein protease", "RCE1 homolog, prenyl protein peptidase (S. cerevisiae)", "RCE1 homolog, prenyl protein protease (S. cerevisiae)"	RCE1A, RCE1B		10085068, 10373325	Standard	NM_005133		Approved	hRCE1, FACE-2, FACE2	uc001ojk.1	Q9Y256	OTTHUMG00000167098	ENST00000309657.3:c.577C>A	11.37:g.66612465C>A	ENSP00000309163:p.Leu193Met		Q52LZ9	Missense_Mutation	SNP	pfam_CAAX_protease	p.L193M	ENST00000309657.3	37	c.577	CCDS8151.1	11	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134625	0.21123	.	.	ENSG00000173653	ENST00000309657;ENST00000524506;ENST00000525356	.	.	.	4.3	2.4	0.29515	.	0.083181	0.48767	D	0.000167	T	0.37210	0.0995	N	0.17594	0.5	0.30416	N	0.778579	D	0.62365	0.991	P	0.55011	0.766	T	0.35375	-0.9791	9	0.33141	T	0.24	-9.2156	11.6426	0.51242	0.0:0.836:0.0:0.164	.	193	Q9Y256	FACE2_HUMAN	M	193;193;70	.	ENSP00000309163:L193M	L	+	1	2	RCE1	66369041	0.981000	0.34729	0.929000	0.37066	0.207000	0.24258	2.539000	0.45718	0.198000	0.20407	-2.069000	0.00389	CTG	RCE1	-	pfam_CAAX_protease	ENSG00000173653		0.587	RCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCE1	HGNC	protein_coding	OTTHUMT00000393105.1		0	46	0	C	NM_005133		66612465	1			no_errors	ENST00000309657	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	66612465	C	A	66612465	3	1	87	1	0	0	0	0	1	0	0	0	13221	680	24	3	595	3	RCE1	11	66612465	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	139614	66612465	68394051	1154	24278											
PC	5091	genome.wustl.edu	37	chr11	66618621	66618621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacgtcgcccgtgtatgAgatggcagcctccaccacgc	7	6	12	16	4	0	1	0	1	0	1	2	2	1	1	5	2	1	2	5	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:66618621A>G	ENST00000393958.2	-	16	2206	c.2113T>C	c.(2113-2115)Tca>Cca	p.S705P	PC_ENST00000393955.2_Missense_Mutation_p.S705P|PC_ENST00000393960.1_Missense_Mutation_p.S705P|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	705	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CCCGTGTATGAGATGGCAGCC	0.617																																																	0													76	71	73					11																	66618621		2200	4295	6495	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2113T>C	11.37:g.66618621A>G	ENSP00000377530:p.Ser705Pro		B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.S705P	ENST00000393958.2	37	c.2113	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948147	0.73787	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98732	-5.1;-5.1;-5.1	4.52	4.52	0.55395	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99211	0.9726	M	0.93283	3.4	0.80722	D	1	D	0.57571	0.98	D	0.66979	0.948	D	0.99174	1.0865	10	0.87932	D	0	-23.7887	11.8757	0.52546	1.0:0.0:0.0:0.0	.	705	P11498	PYC_HUMAN	P	705	ENSP00000377527:S705P;ENSP00000377530:S705P;ENSP00000377532:S705P	ENSP00000377527:S705P	S	-	1	0	PC	66375197	1.000000	0.71417	0.998000	0.56505	0.583000	0.36354	3.719000	0.54926	1.909000	0.55274	0.533000	0.62120	TCA	PC	-	pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase	ENSG00000173599		0.617	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	-	0	120	0	A	NM_001040716		66618621	-1	tier1	-	no_errors	ENST00000393958	ensembl	human	known	74_37	missense	13.70	126	20	SNP	1.000	G	G	66618621	A	G	66618621	3	3	87	1	0	0	0	0	1	0	0	0	11536	304	11	4	1451	4	PC	11	66618621	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	6156	66618621	68387895	1155	24279											
ADRBK1	156	genome.wustl.edu	37	chr11	67051717	67051717	+	Frame_Shift_Del	DEL	C	C	-																															caggagctctaccgcaacttCcccctcaccatctcggagcg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:67051717delC	ENST00000308595.5	+	18	1817	c.1527delC	c.(1525-1527)ttcfs	p.F509fs	ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	509	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCGCAACTTCCCCCTCACCA	0.587																																																	0													109	92	98					11																	67051717		2200	4295	6495	SO:0001589	frameshift_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1527delC	11.37:g.67051717delC	ENSP00000312262:p.Phe509fs		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.L511fs	ENST00000308595.5	37	c.1527	CCDS8156.1	11																																																																																			ADRBK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase	ENSG00000173020		0.587	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1		0	44	0	C	NM_001619		67051717	1	tier1		no_errors	ENST00000308595	ensembl	human	known	74_37	frame_shift_del	25.00	36	12	DEL	1.000	-	-	67051717	C	-	67051717	7	5	87	1	0	1	0	1	0	0	0	0	343	854	30	0	1597	0	ADRBK1	11	67051717	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	433096	67051717	67954799	1156	24280											
CLCF1	23529	genome.wustl.edu	37	chr11	67132695	67132695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgaagtccttggccgagCgccacagccaggtctgcagc	7	7	14	13	2	1	1	0	1	1	0	2	2	2	1	4	3	4	2	4	3	1	2	rs104894203		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:67132695C>T	ENST00000312438.7	-	3	787	c.590G>A	c.(589-591)cGc>cAc	p.R197H	CLCF1_ENST00000528474.1_Missense_Mutation_p.R187H|RN7SKP239_ENST00000364814.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.R187H|AP003419.11_ENST00000543494.1_RNA	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	197			R -> L (in CISS2; incapacity to bind CNTFR alpha; heterozygous compound with a nonsense mutation). {ECO:0000269|PubMed:16782820}.		B cell differentiation (GO:0030183)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)	CNTFR-CLCF1 complex (GO:0097059)|CRLF-CLCF1 complex (GO:0097058)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	ciliary neurotrophic factor receptor binding (GO:0005127)|cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			CTTGGCCGAGCGCCACAGCCA	0.602																																																	0			GRCh37	CM066008	CLCF1	M	rs104894203						46	40	42					11																	67132695		2200	4295	6495	SO:0001583	missense	0			BC012939	CCDS31617.1, CCDS53666.1	11q13.3	2014-01-28	2006-07-03		ENSG00000175505	ENSG00000175505			17412	protein-coding gene	gene with protein product	"B-cell stimulating factor 3", "cold-induced sweating syndrome 2", "novel neurotrophin-1"	607672	"CRLF1 associated cytokine-like factor 1"			10500198, 10448081, 16782820	Standard	NM_001166212		Approved	NNT1, BSF3, CLC, NR6, CISS2, BSF-3, NNT-1	uc010rpp.2	Q9UBD9	OTTHUMG00000167669	ENST00000312438.7:c.590G>A	11.37:g.67132695C>T	ENSP00000309338:p.Arg197His		B4DNT4|Q6NZA4	Missense_Mutation	SNP	pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	p.R197H	ENST00000312438.7	37	c.590	CCDS31617.1	11	.	.	.	.	.	.	.	.	.	.	c	23.0	4.362424	0.82353	.	.	ENSG00000175505	ENST00000312438;ENST00000533438;ENST00000528474	T;T;T	0.76448	-1.02;-1.02;-1.02	4.67	4.67	0.58626	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.067563	0.64402	D	0.000018	D	0.85362	0.5679	L	0.50333	1.59	0.53005	D	0.999965	D	0.89917	1.0	D	0.87578	0.998	D	0.87173	0.2222	10	0.87932	D	0	-15.4686	17.5836	0.87974	0.0:1.0:0.0:0.0	.	197	Q9UBD9	CLCF1_HUMAN	H	197;187;187	ENSP00000309338:R197H;ENSP00000434122:R187H;ENSP00000432553:R187H	ENSP00000309338:R197H	R	-	2	0	CLCF1	66889271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.003000	0.63959	2.320000	0.78422	0.556000	0.70494	CGC	CLCF1	-	pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core	ENSG00000175505		0.602	CLCF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCF1	HGNC	protein_coding	OTTHUMT00000395478.1		0	49	0	C	NM_013246		67132695	-1			no_errors	ENST00000312438	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	T	T	67132695	C	T	67132695	3	4	87	1	0	0	0	0	1	0	0	0	3468	768	27	1	91	1	CLCF1	11	67132695	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	80978	67132695	67873821	1157	24281											
CARNS1	57571	genome.wustl.edu	37	chr11	67190856	67190856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgcagctgcacctcgTggagtcagaccccaaccact	8	8	9	16	1	2	1	1	0	1	1	3	2	2	2	4	1	4	4	4	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:67190856T>C	ENST00000307823.3	+	9	1720	c.1268T>C	c.(1267-1269)gTg>gCg	p.V423A	CARNS1_ENST00000445895.2_Missense_Mutation_p.V546A|CARNS1_ENST00000423745.2_Missense_Mutation_p.V423A|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.V520A	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	423					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CTGCACCTCGTGGAGTCAGAC	0.592																																																	0													67	72	70					11																	67190856		2084	4214	6298	SO:0001583	missense	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"ATP-grasp domain containing 1"	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1268T>C	11.37:g.67190856T>C	ENSP00000308268:p.Val423Ala		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.V546A	ENST00000307823.3	37	c.1637	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507161	0.44558	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	T;T;T;T	0.40756	1.08;1.02;1.02;1.02	5.14	5.14	0.70334	.	.	.	.	.	T	0.36744	0.0978	L	0.36672	1.1	0.38642	D	0.951627	B;P	0.37207	0.451;0.587	B;B	0.38156	0.137;0.266	T	0.40608	-0.9554	9	0.54805	T	0.06	-6.461	13.9273	0.63970	0.0:0.0:0.0:1.0	.	423;562	A5YM72;A5YM72-3	CRNS1_HUMAN;.	A	520;423;520;423;546	ENSP00000431670:V520A;ENSP00000308268:V423A;ENSP00000401519:V423A;ENSP00000389009:V546A	ENSP00000308268:V423A	V	+	2	0	CARNS1	66947432	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.701000	0.68325	1.940000	0.56252	0.448000	0.29417	GTG	CARNS1	-	superfamily_PreATP-grasp_dom	ENSG00000172508		0.592	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	-	0	37	0	T	NM_020811		67190856	1	tier1	-	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	C	C	67190856	T	C	67190856	3	2	87	1	0	0	0	0	1	0	0	0	2663	1696	59	4	1671	4	CARNS1	11	67190856	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	58161	67190856	67815660	1158	24282											
LRP5	4041	genome.wustl.edu	37	chr11	68131293	68131293	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actctgtactggacagactgGcagacccgctccatccatgc	9	8	9	15	1	1	2	0	0	1	2	3	3	3	3	3	2	2	3	3	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:68131293G>A	ENST00000294304.7	+	4	871	c.765G>A	c.(763-765)tgG>tgA	p.W255*		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	255	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACAGACTGGCAGACCCGCT	0.637																																																	0			GRCh37	CM053973	LRP5	M							49	40	43					11																	68131293		2200	4294	6494	SO:0001587	stop_gained	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.765G>A	11.37:g.68131293G>A	ENSP00000294304:p.Trp255*		Q96TD6|Q9UES7|Q9UP66	Nonsense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.W255*	ENST00000294304.7	37	c.765	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.062281	0.97246	.	.	ENSG00000162337	ENST00000294304	.	.	.	3.78	3.78	0.43462	.	0.000000	0.47455	U	0.000228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1692	0.81790	0.0:0.0:1.0:0.0	.	.	.	.	X	255	.	ENSP00000294304:W255X	W	+	3	0	LRP5	67887869	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.362000	0.97126	2.133000	0.65898	0.455000	0.32223	TGG	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt	ENSG00000162337		0.637	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	-	0	95	0	G	NM_002335		68131293	1	tier1	-	no_errors	ENST00000294304	ensembl	human	known	74_37	nonsense	9.09	60	6	SNP	1.000	A	A	68131293	G	A	68131293	4	1	87	1	0	0	0	0	0	1	0	0	8995	1212	42	3	779	3	LRP5	11	68131293	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	940437	68131293	66875223	1159	24283											
CCND1	595	genome.wustl.edu	37	chr11	69466017	69466017	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggtggacctggcttgCacacccaccgacgtgcggga	8	5	16	12	3	0	0	0	0	0	0	0	5	0	3	3	5	2	2	3	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:69466017C>A	ENST00000227507.2	+	5	1082	c.855C>A	c.(853-855)tgC>tgA	p.C285*	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	285					canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	aCCTGGCTTGCACACCCACCG	0.716			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)			Dom	yes		11	11q13	595	cyclin D1		"L, E"	0													25	20	21					11																	69466017		2199	4292	6491	SO:0001587	stop_gained	0			Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"parathyroid adenomatosis 1", "B-cell CLL/lymphoma 1", "G1/S-specific cyclin D1"	168461	"cyclin D1 (PRAD1: parathyroid adenomatosis 1)"	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.855C>A	11.37:g.69466017C>A	ENSP00000227507:p.Cys285*		Q6LEF0	Nonsense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.C285*	ENST00000227507.2	37	c.855	CCDS8191.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.339333	0.98221	.	.	ENSG00000110092	ENST00000227507;ENST00000542897	.	.	.	5.45	5.45	0.79879	.	0.045574	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.2805	0.94051	0.0:1.0:0.0:0.0	.	.	.	.	X	285;151	.	ENSP00000227507:C285X	C	+	3	2	CCND1	69175198	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.287000	0.59001	2.554000	0.86153	0.561000	0.74099	TGC	CCND1	-	NULL	ENSG00000110092		0.716	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND1	HGNC	protein_coding	OTTHUMT00000396775.2		0	38	0	C	NM_053056		69466017	1			no_errors	ENST00000227507	ensembl	human	known	74_37	nonsense	8.82	31	3	SNP	1.000	A	A	69466017	C	A	69466017	4	1	87	1	0	0	0	0	0	1	0	0	2923	718	25	3	873	3	CCND1	11	69466017	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1334724	69466017	65540499	1160	24284											
ARAP1	116985	genome.wustl.edu	37	chr11	72425237	72425238	+	Frame_Shift_Ins	INS	-	-	GG																															ccggctttggaggtatctccINSggggggcagggaggtggaga																								rs377222092		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:72425237_72425238insGG	ENST00000393609.3	-	4	840_841	c.638_639insCC	c.(637-639)ccgfs	p.P213fs	ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000455638.2_Frame_Shift_Ins_p.P213fs|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000359373.5_Frame_Shift_Ins_p.P213fs|ARAP1_ENST00000393605.3_5'Flank	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	213					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGGTATCTCCGGGGGGCAGGG	0.653																																					Ovarian(102;1198 1520 13195 17913 37529)												0																																										SO:0001589	frameshift_variant	0			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16925	protein-coding gene	gene with protein product		606646	"centaurin, delta 2"	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.637_638dupCC	11.37:g.72425242_72425243dupGG	ENSP00000377233:p.Pro213fs		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E214fs	ENST00000393609.3	37	c.639_638	CCDS41687.1	11																																																																																			ARAP1	-	NULL	ENSG00000186635		0.653	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1		0	50	0	-	NM_001040118		72425238	-1	tier1		no_errors	ENST00000393609	ensembl	human	known	74_37	frame_shift_ins	12.28	50	7	INS	0.020:0.300	GG	GG	72425238	-	GG	72425237	7	5	87	1	0	1	1	0	0	0	0	0	838	639	23	0	3841	0	ARAP1	11	72425237	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2959220	72425237	62581279	1161	24285											
P2RY2	5029	genome.wustl.edu	37	chr11	72946284	72946284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcagtgaggactctagGcggacagagtccacgccggc	9	4	16	12	3	1	2	0	1	1	1	2	4	2	4	2	5	1	2	2	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:72946284G>A	ENST00000311131.2	+	3	1547	c.1080G>A	c.(1078-1080)agG>agA	p.R360R	P2RY2_ENST00000393597.2_Silent_p.R360R|P2RY2_ENST00000393596.2_Silent_p.R360R	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	360					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	AGGACTCTAGGCGGACAGAGT	0.587																																																	0													89	93	92					11																	72946284		2168	4242	6410	SO:0001819	synonymous_variant	0			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.1080G>A	11.37:g.72946284G>A			B2R9W3|Q96EM8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt	p.R360	ENST00000311131.2	37	c.1080	CCDS8219.1	11																																																																																			P2RY2	-	prints_P2Y2_rcpt	ENSG00000175591		0.587	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	HGNC	protein_coding	OTTHUMT00000397336.1	-	0	31	0	G	NM_176072		72946284	1	tier1	-	no_errors	ENST00000311131	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.000	A	A	72946284	G	A	72946284	2	1	87	1	0	0	0	0	0	0	0	1	11391	1194	42	3		3	P2RY2	11	72946284	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	521047	72946284	62060232	1162	24286											
PRKRIR	5612	genome.wustl.edu	37	chr11	76062779	76062779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaaatctgacactgcaCtgcagagtacaaatgctcgg	15	8	8	10	1	2	2	1	1	1	1	3	2	2	2	0	1	4	4	0	1	5	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:76062779C>T	ENST00000260045.3	-	5	1520	c.1415G>A	c.(1414-1416)aGt>aAt	p.S472N	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	472					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGACACTGCACTGCAGAGTAC	0.368																																																	0													43	45	45					11																	76062779		2197	4291	6488	SO:0001583	missense	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"THAP (C2CH-type zinc finger) domain containing"	9440	protein-coding gene	gene with protein product	"THAP domain containing 12"	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.1415G>A	11.37:g.76062779C>T	ENSP00000260045:p.Ser472Asn		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S472N	ENST00000260045.3	37	c.1415	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607590	0.28623	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	T;T	0.21734	1.99;1.99	4.99	4.99	0.66335	Ribonuclease H-like (1);	0.181445	0.64402	D	0.000004	T	0.18467	0.0443	L	0.41236	1.265	0.40872	D	0.983922	B	0.18741	0.03	B	0.10450	0.005	T	0.04870	-1.0921	10	0.20519	T	0.43	.	15.2049	0.73173	0.0:0.8589:0.1411:0.0	.	472	O43422	P52K_HUMAN	N	297;472	ENSP00000436249:S297N;ENSP00000260045:S472N	ENSP00000260045:S472N	S	-	2	0	PRKRIR	75740427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.607000	0.46300	2.527000	0.85204	0.644000	0.83932	AGT	PRKRIR	-	superfamily_RNaseH-like_dom	ENSG00000137492		0.368	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	HGNC	protein_coding	OTTHUMT00000383188.1	-	0	56	0	C	NM_004705		76062779	-1	tier1	-	no_errors	ENST00000260045	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T	T	76062779	C	T	76062779	3	4	87	1	0	0	0	0	1	0	0	0	12568	565	20	3	874	3	PRKRIR	11	76062779	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3116495	76062779	58943737	1163	24287											
MYO7A	4647	genome.wustl.edu	37	chr11	76867057	76867058	+	Frame_Shift_Ins	INS	-	-	C																															acaagaagattggggagatgINScccccccacatctttgccat																								rs111033187|rs377214759		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:76867057_76867058insC	ENST00000409709.3	+	5	662_663	c.390_391insC	c.(391-393)cccfs	p.P131fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.P131fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.P120fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.P131fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	131	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGGGGAGATGCCCCCCCACAT	0.564																																																	0									,,	18,3916		0,18,1949				http://www.ncbi.nlm.nih.gov/sites/varvu?gene	,,	5.1	1		dbSNP_132	51	12,8042		0,12,4015	no	frameshift,frameshift,frameshift	MYO7A	NM_001127180.1,NM_001127179.2,NM_000260.3	,,	0,30,5964	A1A1,A1R,RR		0.149,0.4575,0.2503	,,	,,		30,11958				SO:0001589	frameshift_variant	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.397dupC	11.37:g.76867064_76867064dupC	ENSP00000386331:p.Pro131fs		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.H132fs	ENST00000409709.3	37	c.390_391	CCDS53683.1	11																																																																																			MYO7A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000137474		0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1		0	57	0	-	NM_000260		76867058	1	tier1		no_errors	ENST00000409709	ensembl	human	known	74_37	frame_shift_ins	21.74	36	10	INS	1.000:1.000	C	C	76867058	-	C	76867057	7	5	87	1	0	1	1	0	0	0	0	0	10120	1319	46	0	404	0	MYO7A	11	76867057	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	804278	76867057	58139459	1164	24288											
MYO7A	4647	genome.wustl.edu	37	chr11	76890120	76890120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaagctgaagaacgctgCcacactgatccagaggcact	12	7	10	12	1	1	5	0	3	1	2	2	5	2	5	2	1	3	3	2	1	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:76890120C>T	ENST00000409709.3	+	20	2584	c.2312C>T	c.(2311-2313)gCc>gTc	p.A771V	MYO7A_ENST00000409893.1_Missense_Mutation_p.A771V|MYO7A_ENST00000409619.2_Missense_Mutation_p.A760V|MYO7A_ENST00000458637.2_Missense_Mutation_p.A771V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	771	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGAACGCTGCCACACTGATC	0.577																																																	0													36	42	40					11																	76890120		2121	4221	6342	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2312C>T	11.37:g.76890120C>T	ENSP00000386331:p.Ala771Val		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.A771V	ENST00000409709.3	37	c.2312	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623739	0.28889	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.87	4.87	0.63330	.	0.067663	0.64402	D	0.000016	T	0.37265	0.0997	L	0.49513	1.565	0.49051	D	0.999746	B;B;B	0.15473	0.013;0.008;0.012	B;B;B	0.23419	0.032;0.046;0.036	T	0.17961	-1.0352	10	0.33940	T	0.23	.	10.5943	0.45327	0.0:0.9011:0.0:0.0989	.	771;771;771	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	V	771;771;771;760;770;770;647;770	ENSP00000386331:A771V;ENSP00000386689:A771V;ENSP00000392185:A771V;ENSP00000386635:A760V	ENSP00000345075:A647V	A	+	2	0	MYO7A	76567768	0.880000	0.30214	0.773000	0.31616	0.073000	0.16967	0.868000	0.27982	2.272000	0.75746	0.289000	0.19496	GCC	MYO7A	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000137474		0.577	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0	30	0	C	NM_000260		76890120	1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.789	T	T	76890120	C	T	76890120	3	4	87	1	0	0	0	0	1	0	0	0	10120	739	26	3	2386	3	MYO7A	11	76890120	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	23063	76890120	58116396	1165	24289											
FAT3	120114	genome.wustl.edu	37	chr11	92507205	92507206	+	Splice_Site	INS	-	-	G																															atgtttctgtgaaatcatcaINSggggggaattttgacagcgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:92507205_92507206insG	ENST00000298047.6	+	6	4212		c.e6-1		FAT3_ENST00000525166.1_Splice_Site|FAT3_ENST00000409404.2_Splice_Site			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3						homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAAATCATCAGGGGGGAATTT	0.366										TCGA Ovarian(4;0.039)																																							0																																										SO:0001630	splice_region_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4196-1->G	11.37:g.92507211_92507211dupG			B5MDB0|Q96AU6	Splice_Site	INS	-	e6-1	ENST00000298047.6	37	c.4196-2_4196-1		11																																																																																			FAT3	-	-	ENSG00000165323		0.366	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding			0	52	0	-	NM_001008781	Intron	92507206	1	tier1		no_errors	ENST00000298047	ensembl	human	known	74_37	splice_site_ins	30.19	37	16	INS	1.000:1.000	G	G	92507206	-	G	92507205	8	5	87	1	0	1	1	0	0	0	1	0	5713	202	7	0	4216	0	FAT3	11	92507205	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	15617085	92507205	42499311	1166	24290											
FAT3	120114	genome.wustl.edu	37	chr11	92570878	92570878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtagacagtggcattcctgCaatgtcatcaactgcaactg	11	10	9	11	1	2	1	2	0	0	1	3	1	3	1	1	1	4	4	1	1	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:92570878C>T	ENST00000298047.6	+	16	10291	c.10274C>T	c.(10273-10275)gCa>gTa	p.A3425V	FAT3_ENST00000525166.1_Missense_Mutation_p.A3275V|FAT3_ENST00000409404.2_Missense_Mutation_p.A3425V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3425	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCATTCCTGCAATGTCATCA	0.473										TCGA Ovarian(4;0.039)																																							0													128	128	128					11																	92570878		1999	4168	6167	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10274C>T	11.37:g.92570878C>T	ENSP00000298047:p.Ala3425Val		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A3425V	ENST00000298047.6	37	c.10274		11	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074419	0.55646	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53206	0.63;0.63;0.63	4.79	2.78	0.32641	.	.	.	.	.	T	0.36496	0.0969	L	0.33668	1.02	0.80722	D	1	B	0.17667	0.023	B	0.19666	0.026	T	0.16958	-1.0385	9	0.52906	T	0.07	.	10.6709	0.45757	0.0:0.8427:0.0:0.1572	.	3425	Q8TDW7-3	.	V	3425;3425;3275	ENSP00000298047:A3425V;ENSP00000387040:A3425V;ENSP00000432586:A3275V	ENSP00000298047:A3425V	A	+	2	0	FAT3	92210526	0.980000	0.34600	0.932000	0.37286	0.850000	0.48378	4.628000	0.61282	0.633000	0.30452	0.650000	0.86243	GCA	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.473	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	67	0	C	NM_001008781		92570878	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.910	T	T	92570878	C	T	92570878	3	4	87	1	0	0	0	0	1	0	0	0	5713	710	25	3	10336	3	FAT3	11	92570878	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	63673	92570878	42435638	1167	24291											
FAT3	120114	genome.wustl.edu	37	chr11	92616433	92616433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgtttcaccctgagtcgCcccgcatcctgacagcccgg	6	7	9	19	4	1	2	1	2	0	0	3	2	2	2	6	1	1	2	6	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:92616433C>T	ENST00000298047.6	+	23	12828	c.12811C>T	c.(12811-12813)Ccc>Tcc	p.P4271S	FAT3_ENST00000533797.1_Missense_Mutation_p.P606S|FAT3_ENST00000525166.1_Missense_Mutation_p.P4121S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4271S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4271					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGAGTCGCCCCGCATCCT	0.657										TCGA Ovarian(4;0.039)																																							0													56	70	65					11																	92616433		2138	4235	6373	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12811C>T	11.37:g.92616433C>T	ENSP00000298047:p.Pro4271Ser		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P4271S	ENST00000298047.6	37	c.12811		11	.	.	.	.	.	.	.	.	.	.	C	23.9	4.472694	0.84640	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.85484	-0.78;-0.8;-0.79;-1.99	5.85	5.85	0.93711	.	.	.	.	.	T	0.81945	0.4930	L	0.48642	1.525	0.80722	D	1	B;B	0.23058	0.079;0.0	B;B	0.20767	0.031;0.0	T	0.75980	-0.3126	9	0.16896	T	0.51	.	20.161	0.98133	0.0:1.0:0.0:0.0	.	4271;4271	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	S	4271;4271;4121;606	ENSP00000298047:P4271S;ENSP00000387040:P4271S;ENSP00000432586:P4121S;ENSP00000436399:P606S	ENSP00000298047:P4271S	P	+	1	0	FAT3	92256081	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	5.857000	0.69525	2.770000	0.95276	0.655000	0.94253	CCC	FAT3	-	NULL	ENSG00000165323		0.657	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	39	0	C	NM_001008781		92616433	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	T	T	92616433	C	T	92616433	3	4	87	1	0	0	0	0	1	0	0	0	5713	739	26	3	12901	3	FAT3	11	92616433	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	45555	92616433	42390083	1168	24292											
AMOTL1	154810	genome.wustl.edu	37	chr11	94528221	94528221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagtcctgtccaggttCtagaagactccacctacttt	9	12	7	13	0	1	2	0	0	1	2	4	2	4	2	5	1	1	2	5	1	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:94528221C>A	ENST00000433060.2	+	2	235	c.94C>A	c.(94-96)Cta>Ata	p.L32I	AMOTL1_ENST00000317837.9_Missense_Mutation_p.L32I|AMOTL1_ENST00000317829.8_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	32					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGTCCAGGTTCTAGAAGACTC	0.502																																																	0													136	131	133					11																	94528221		1871	4101	5972	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.94C>A	11.37:g.94528221C>A	ENSP00000387739:p.Leu32Ile		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.L32I	ENST00000433060.2	37	c.94	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622582	0.28889	.	.	ENSG00000166025	ENST00000299004;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.46451	0.87;0.87;0.87	5.65	4.72	0.59763	.	0.124724	0.35407	N	0.003230	T	0.40040	0.1101	L	0.54323	1.7	0.33830	D	0.630109	B	0.29378	0.243	B	0.23716	0.048	T	0.56269	-0.8007	10	0.87932	D	0	-1.3653	14.9166	0.70801	0.0:0.8573:0.1426:0.0	.	32	Q8IY63	AMOL1_HUMAN	I	61;38;32;32	ENSP00000299004:L61I;ENSP00000323474:L32I;ENSP00000387739:L32I	ENSP00000299004:L61I	L	+	1	2	AMOTL1	94167869	1.000000	0.71417	0.956000	0.39512	0.042000	0.13812	2.143000	0.42187	1.364000	0.46038	0.555000	0.69702	CTA	AMOTL1	-	NULL	ENSG00000166025		0.502	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	-	0	66	0	C	NM_130847		94528221	1	tier1	-	no_errors	ENST00000433060	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A	A	94528221	C	A	94528221	3	1	87	1	0	0	0	0	1	0	0	0	583	912	32	3	100	3	AMOTL1	11	94528221	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1911788	94528221	40478295	1169	24293											
AMOTL1	154810	genome.wustl.edu	37	chr11	94533455	94533455	+	Frame_Shift_Del	DEL	C	C	-																															ccgtcctgcggtaccagccaCcccctgagtatggggtaacg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:94533455delC	ENST00000433060.2	+	3	1240	c.1099delC	c.(1099-1101)cccfs	p.P368fs	AMOTL1_ENST00000317837.9_Frame_Shift_Del_p.P368fs|AMOTL1_ENST00000317829.8_Frame_Shift_Del_p.P318fs	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	368					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GTACCAGCCACCCCCTGAGTA	0.502																																																	0													85	85	85					11																	94533455		1956	4140	6096	SO:0001589	frameshift_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"junction-enriched and associated protein"	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1099delC	11.37:g.94533455delC	ENSP00000387739:p.Pro368fs		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Frame_Shift_Del	DEL	pfam_Angiomotin_C,prints_Angiomotin	p.P368fs	ENST00000433060.2	37	c.1099	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.502	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3		0	40	0	C	NM_130847		94533455	1	tier1		no_errors	ENST00000433060	ensembl	human	known	74_37	frame_shift_del	20.51	31	8	DEL	1.000	-	-	94533455	C	-	94533455	7	5	87	1	0	1	0	1	0	0	0	0	583	507	18	0	1109	0	AMOTL1	11	94533455	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	5234	94533455	40473061	1170	24294											
CNTN5	53942	genome.wustl.edu	37	chr11	99690293	99690293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtattcaaaatctcttcCtggtctctccacttcatatg	10	15	5	11	0	4	1	2	0	2	1	8	1	6	1	2	1	0	1	2	1	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:99690293C>A	ENST00000524871.1	+	4	364	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CNTN5_ENST00000279463.3_Missense_Mutation_p.P25H|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.P25H|CNTN5_ENST00000527185.1_Missense_Mutation_p.P25H	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	25					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCTCTTCCTGGTCTCTCC	0.328																																																	0													106	105	105					11																	99690293		1845	4077	5922	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.74C>A	11.37:g.99690293C>A	ENSP00000435637:p.Pro25His		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P25H	ENST00000524871.1	37	c.74	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	9.002	0.980262	0.18812	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.55930	0.49;0.56;0.56;0.56	5.2	4.28	0.50868	.	0.516056	0.19553	N	0.111504	T	0.41903	0.1179	N	0.19112	0.55	0.33602	D	0.602447	P;P	0.44309	0.832;0.832	B;B	0.42882	0.286;0.401	T	0.60203	-0.7309	10	0.87932	D	0	.	13.3599	0.60650	0.0:0.9231:0.0:0.0768	.	25;25	E9PKE8;O94779	.;CNTN5_HUMAN	H	25	ENSP00000433575:P25H;ENSP00000436185:P25H;ENSP00000435637:P25H;ENSP00000279463:P25H	ENSP00000279463:P25H	P	+	2	0	CNTN5	99195503	0.994000	0.37717	0.943000	0.38184	0.010000	0.07245	1.438000	0.35002	1.518000	0.48934	0.650000	0.86243	CCT	CNTN5	-	NULL	ENSG00000149972		0.328	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	70	0	C	NM_014361		99690293	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	8.86	72	7	SNP	1.000	A	A	99690293	C	A	99690293	3	1	87	1	0	0	0	0	1	0	0	0	3651	681	24	3	80	3	CNTN5	11	99690293	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5156838	99690293	35316223	1171	24295											
MMP8	4317	genome.wustl.edu	37	chr11	102586163	102586163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggatgccttctccagAagtacctaacggaacataag	13	8	10	10	1	1	2	0	1	1	1	2	4	1	4	3	2	4	2	3	2	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:102586163A>T	ENST00000236826.3	-	7	1006	c.908T>A	c.(907-909)tTc>tAc	p.F303Y		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	303					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	CCTTCTCCAGAAGTACCTAAC	0.413																																																	0													97	87	91					11																	102586163		2203	4299	6502	SO:0001583	missense	0			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.908T>A	11.37:g.102586163A>T	ENSP00000236826:p.Phe303Tyr		Q45F99	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.F303Y	ENST00000236826.3	37	c.908	CCDS8320.1	11	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587810	0.46110	.	.	ENSG00000118113	ENST00000236826;ENST00000544383;ENST00000534942	T	0.01246	5.11	5.47	5.47	0.80525	Hemopexin/matrixin (2);	0.105080	0.42682	D	0.000673	T	0.02494	0.0076	L	0.49640	1.575	0.34488	D	0.704676	B;B;B	0.27853	0.191;0.001;0.007	B;B;B	0.30716	0.074;0.013;0.119	T	0.44847	-0.9301	10	0.36615	T	0.2	.	15.2632	0.73640	1.0:0.0:0.0:0.0	.	303;238;303	A8K9E4;F5GXB5;P22894	.;.;MMP8_HUMAN	Y	303;280;238	ENSP00000236826:F303Y	ENSP00000236826:F303Y	F	-	2	0	MMP8	102091373	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.716000	0.61916	2.078000	0.62432	0.528000	0.53228	TTC	MMP8	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans	ENSG00000118113		0.413	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP8	HGNC	protein_coding	OTTHUMT00000395223.1	-	0	29	0	A	NM_002424		102586163	-1	tier1	-	no_errors	ENST00000236826	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	102586163	A	T	102586163	3	4	87	1	0	0	0	0	1	0	0	0	9706	246	9	5	511	5	MMP8	11	102586163	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2895870	102586163	32420353	1172	24296											
MMP1	4312	genome.wustl.edu	37	chr11	102666262	102666262	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtagctagggtacatcaaAgccccgatatcagtagaatg	13	9	11	8	1	2	1	2	0	0	1	2	2	2	1	2	1	3	4	2	1	7	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:102666262A>G	ENST00000315274.6	-	5	769	c.702T>C	c.(700-702)gcT>gcC	p.A234A	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	234	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GGTACATCAAAGCCCCGATAT	0.433																																																	0													85	76	79					11																	102666262		2203	4299	6502	SO:0001819	synonymous_variant	0			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"Endogenous ligands"	7155	protein-coding gene	gene with protein product		120353	"matrix metalloproteinase 1 (interstitial collagenase)"	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.702T>C	11.37:g.102666262A>G			P08156	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.A234	ENST00000315274.6	37	c.702	CCDS8322.1	11																																																																																			MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	ENSG00000196611		0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	-	0	50	0	A	NM_002421		102666262	-1	tier1	-	no_errors	ENST00000315274	ensembl	human	known	74_37	silent	28.26	33	13	SNP	0.933	G	G	102666262	A	G	102666262	2	3	87	1	0	0	0	0	0	0	0	1	9686	59	3	4		4	MMP1	11	102666262	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	80099	102666262	32340254	1173	24297											
KBTBD3	143879	genome.wustl.edu	37	chr11	105923925	105923925	+	Frame_Shift_Del	DEL	A	A	-																															gctttaattaatgttgcatgAaaaaattgcccaaactctgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:105923925delA	ENST00000526793.1	-	3	1650	c.1491delT	c.(1489-1491)tttfs	p.F497fs	KBTBD3_ENST00000534815.1_Frame_Shift_Del_p.F418fs|KBTBD3_ENST00000531837.1_Frame_Shift_Del_p.F497fs	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	493										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ATGTTGCATGAAAAAATTGCC	0.343																																																	0													60	60	60					11																	105923925		2201	4297	6498	SO:0001589	frameshift_variant	0			AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"BTB/POZ domain containing"	22934	protein-coding gene	gene with protein product			"BTB and kelch domain containing 3"	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.1491delT	11.37:g.105923925delA	ENSP00000436262:p.Phe497fs		Q6N066|Q86X38|Q96NK5	Frame_Shift_Del	DEL	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H498fs	ENST00000526793.1	37	c.1491	CCDS8334.1	11																																																																																			KBTBD3	-	pirsf_Kelch-like_gigaxonin	ENSG00000182359		0.343	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD3	HGNC	protein_coding	OTTHUMT00000388705.2		0	34	0	A	NM_152433		105923925	-1	tier1		no_errors	ENST00000526793	ensembl	human	known	74_37	frame_shift_del	12.77	41	6	DEL	1.000	-	-	105923925	A	-	105923925	7	5	87	1	0	1	0	1	0	0	0	0	8021	243	9	0	351	0	KBTBD3	11	105923925	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	3257663	105923925	29082591	1174	24298											
EXPH5	23086	genome.wustl.edu	37	chr11	108384340	108384340	+	Frame_Shift_Del	DEL	A	A	-																															tctgtcatcagaaatctgggAaaaggaagttttgaatgagg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:108384340delA	ENST00000265843.4	-	6	2004	c.1894delT	c.(1894-1896)tccfs	p.S632fs	EXPH5_ENST00000443411.1_Frame_Shift_Del_p.S444fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.S556fs|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Frame_Shift_Del_p.S625fs	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	632					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAATCTGGGAAAAGGAAGTT	0.413																																																	0													96	100	99					11																	108384340		2201	4298	6499	SO:0001589	frameshift_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1894delT	11.37:g.108384340delA	ENSP00000265843:p.Ser632fs		Q2KHM1|Q9Y4D6	Frame_Shift_Del	DEL	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.S632fs	ENST00000265843.4	37	c.1894	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1		0	42	0	A	NM_015065		108384340	-1	tier1		no_errors	ENST00000265843	ensembl	human	known	74_37	frame_shift_del	12.96	47	7	DEL	0.049	-	-	108384340	A	-	108384340	7	5	87	1	0	1	0	1	0	0	0	0	5338	246	9	0	4079	0	EXPH5	11	108384340	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	2460415	108384340	26622176	1175	24299											
PPP2R1B	5519	genome.wustl.edu	37	chr11	111626165	111626165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttccacagcaaggaggcGcactgaatcctaaaggaaca	15	5	10	11	1	0	1	0	1	0	0	2	3	2	3	2	3	3	3	2	3	5	2	rs376765814	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:111626165G>A	ENST00000527614.1	-	6	762	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	PPP2R1B_ENST00000311129.5_Missense_Mutation_p.R233C|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.R106C|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.R169C|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.R233C|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.R72C	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	233					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GCAAGGAGGCGCACTGAATCC	0.448													G|||	2	0.000399361	0	0	5008	,	,		16535	0.002		0	False		,,,				2504	0																0								G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	87	68	74		697,316,697,697,505	5.5	1	11		74	1,8593	1.2+/-3.3	0,1,4296	no	missense,missense,missense,missense,missense	PPP2R1B	NM_001177562.1,NM_001177563.1,NM_002716.4,NM_181699.2,NM_181700.1	180,180,180,180,180	0,3,6495	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	233/557,106/475,233/602,233/668,169/604	111626165	3,12993	2201	4297	6498	SO:0001583	missense	0			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9303	protein-coding gene	gene with protein product	"PP2A-A-beta", "protein phosphatase 2A, regulatory subunit A, beta isoform"	603113	"protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.697C>T	11.37:g.111626165G>A	ENSP00000437193:p.Arg233Cys		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R233C	ENST00000527614.1	37	c.697	CCDS8349.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665575	0.88251	4.54E-4	1.16E-4	ENSG00000137713	ENST00000311129;ENST00000412902;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	H	0.97077	3.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.994;1.0;1.0;0.998;1.0	D	0.88083	0.2808	10	0.87932	D	0	-6.6676	16.8722	0.86043	0.0:0.0:1.0:0.0	.	106;233;72;169;233;233	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	C	233;106;169;233;72;233;106	ENSP00000311344:R233C;ENSP00000410671:R169C;ENSP00000437193:R233C;ENSP00000415759:R72C;ENSP00000343317:R233C;ENSP00000376775:R106C	ENSP00000311344:R233C	R	-	1	0	PPP2R1B	111131375	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.360000	0.79487	2.585000	0.87301	0.655000	0.94253	CGC	PPP2R1B	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000137713		0.448	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1		0	31	0	G	NM_002716		111626165	-1			no_errors	ENST00000311129	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	A	A	111626165	G	A	111626165	3	1	87	1	0	0	0	0	1	0	0	0	12425	1087	38	1	1371	1	PPP2R1B	11	111626165	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3241825	111626165	23380351	1176	24300											
APOA1	335	genome.wustl.edu	37	chr11	116706756	116706756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctggcgcagctcgtcgCtgtagggggccagatgcgtg	5	7	18	11	5	0	1	0	0	0	1	2	1	0	1	1	3	3	5	1	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:116706756C>T	ENST00000236850.4	-	4	937	c.572G>A	c.(571-573)aGc>aAc	p.S191N	APOA1_ENST00000375320.1_Missense_Mutation_p.S191N|APOA1_ENST00000375329.2_Missense_Mutation_p.S169N|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.S191N|APOA1_ENST00000359492.2_Missense_Mutation_p.S191N	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	191	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CAGCTCGTCGCTGTAGGGGGC	0.701																																																	0													16	18	17					11																	116706756		2194	4273	6467	SO:0001583	missense	0			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"Apolipoproteins"	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.572G>A	11.37:g.116706756C>T	ENSP00000236850:p.Ser191Asn		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	pfam_ApoA1_A4_E	p.S191N	ENST00000236850.4	37	c.572	CCDS8378.1	11	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575877	0.28092	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.05	1.67	0.24075	.	0.320380	0.24449	U	0.038428	T	0.79811	0.4510	M	0.85197	2.74	0.37866	D	0.929879	P	0.42248	0.774	P	0.49799	0.622	T	0.79827	-0.1639	10	0.48119	T	0.1	-19.9836	8.3785	0.32457	0.0:0.6011:0.2409:0.158	.	191	P02647	APOA1_HUMAN	N	191;191;169;191;191	ENSP00000364469:S191N;ENSP00000352471:S191N;ENSP00000364478:S169N;ENSP00000364472:S191N;ENSP00000236850:S191N	ENSP00000236850:S191N	S	-	2	0	APOA1	116211966	0.983000	0.35010	0.946000	0.38457	0.016000	0.09150	0.200000	0.17257	0.532000	0.28657	-0.371000	0.07208	AGC	APOA1	-	pfam_ApoA1_A4_E	ENSG00000118137		0.701	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA1	HGNC	protein_coding	OTTHUMT00000106281.2		0	41	0	C	NM_000039		116706756	-1			no_errors	ENST00000236850	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.980	T	T	116706756	C	T	116706756	3	4	87	1	0	0	0	0	1	0	0	0	780	797	28	3	235	3	APOA1	11	116706756	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5080591	116706756	18299760	1177	24301											
TMPRSS4	56649	genome.wustl.edu	37	chr11	117985923	117985923	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacggtgcaatgcagacgaTgcgtaccagggggaagtcac	12	5	14	10	3	1	1	1	0	0	1	1	3	1	2	1	3	4	3	1	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:117985923T>A	ENST00000437212.3	+	11	1294	c.1080T>A	c.(1078-1080)gaT>gaA	p.D360E	TMPRSS4_ENST00000534111.1_Missense_Mutation_p.D358E|TMPRSS4_ENST00000522307.1_Missense_Mutation_p.D213E|TMPRSS4_ENST00000523251.1_Missense_Mutation_p.D320E|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.D355E|TMPRSS4_ENST00000518413.2_Intron			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	360	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		ATGCAGACGATGCGTACCAGG	0.562																																																	0													102	77	85					11																	117985923		2200	4296	6496	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.1080T>A	11.37:g.117985923T>A	ENSP00000416037:p.Asp360Glu		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D360E	ENST00000437212.3	37	c.1080	CCDS31684.1	11	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525789	0.44969	.	.	ENSG00000137648	ENST00000534111;ENST00000522307;ENST00000523251;ENST00000437212;ENST00000522824	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	5.26	0.0272	0.14153	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000033	T	0.37489	0.1005	N	0.14661	0.345	0.09310	N	1	P;B;P;P;P	0.47034	0.889;0.143;0.733;0.668;0.859	P;B;B;B;B	0.53861	0.736;0.123;0.287;0.288;0.41	T	0.42344	-0.9457	10	0.06625	T	0.88	.	0.9957	0.01466	0.1514:0.2813:0.1564:0.4109	.	335;320;213;360;358	B7Z900;E7ERX8;E7ESG9;Q9NRS4;Q9NRS4-3	.;.;.;TMPS4_HUMAN;.	E	358;213;320;360;355	ENSP00000435184:D358E;ENSP00000428814:D213E;ENSP00000429209:D320E;ENSP00000416037:D360E;ENSP00000430547:D355E	ENSP00000416037:D360E	D	+	3	2	TMPRSS4	117491133	0.005000	0.15991	0.989000	0.46669	0.691000	0.40173	-1.029000	0.03585	0.320000	0.23234	0.459000	0.35465	GAT	TMPRSS4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000137648		0.562	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	-	0	49	0	T	NM_019894		117985923	1	tier1	-	no_errors	ENST00000437212	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.120	A	A	117985923	T	A	117985923	3	1	87	1	0	0	0	0	1	0	0	0	16296	1461	51	5	1122	5	TMPRSS4	11	117985923	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1279167	117985923	17020593	1178	24302											
SORL1	6653	genome.wustl.edu	37	chr11	121489505	121489505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggtattttctatgccaCgtcctttcttgacctctatc	6	19	5	11	1	3	1	0	1	3	0	5	1	4	1	3	1	1	1	3	1	4	8	rs149445303		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:121489505C>T	ENST00000260197.7	+	42	5756	c.5627C>T	c.(5626-5628)aCg>aTg	p.T1876M	SORL1_ENST00000532694.1_Missense_Mutation_p.T722M|SORL1_ENST00000534286.1_Missense_Mutation_p.T786M|SORL1_ENST00000527934.1_Missense_Mutation_p.T491M|SORL1_ENST00000525532.1_Missense_Mutation_p.T820M	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1876	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTATGCCACGTCCTTTCTT	0.433																																																	0								C	MET/THR	1,4403	2.1+/-5.4	0,1,2201	246	210	222		5627	5.5	0.9	11	dbSNP_134	222	0,8598		0,0,4299	no	missense	SORL1	NM_003105.5	81	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1876/2215	121489505	1,13001	2202	4299	6501	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5627C>T	11.37:g.121489505C>T	ENSP00000260197:p.Thr1876Met		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T1876M	ENST00000260197.7	37	c.5627	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531041	0.85706	2.27E-4	0.0	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.53	5.53	0.82687	Fibronectin, type III (2);	0.231798	0.41823	D	0.000819	T	0.65176	0.2666	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.66846	-0.5820	10	0.62326	D	0.03	.	19.0609	0.93093	0.0:1.0:0.0:0.0	.	491;1876	E9PKB0;Q92673	.;SORL_HUMAN	M	1876;820;722;786;491	ENSP00000260197:T1876M;ENSP00000434634:T820M;ENSP00000432131:T722M;ENSP00000436447:T786M;ENSP00000435405:T491M	ENSP00000260197:T1876M	T	+	2	0	SORL1	120994715	1.000000	0.71417	0.931000	0.37212	0.840000	0.47671	6.820000	0.75267	2.599000	0.87857	0.655000	0.94253	ACG	SORL1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000137642		0.433	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0	66	0	C	NM_003105		121489505	1	tier1	rs149445303	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	22.78	61	18	SNP	1.000	T	T	121489505	C	T	121489505	3	4	87	1	0	0	0	0	1	0	0	0	14979	536	19	1	5793	1	SORL1	11	121489505	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3503582	121489505	13517011	1179	24303											
SCN3B	55800	genome.wustl.edu	37	chr11	123516402	123516402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcagcttcatggggttgcCctgcacggcctccgtctccg	3	9	13	16	4	2	0	1	0	1	0	4	0	3	0	4	3	3	4	4	3	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:123516402C>A	ENST00000392770.2	-	2	914	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	SCN3B_ENST00000530277.1_Missense_Mutation_p.G38C|SCN3B_ENST00000299333.3_Missense_Mutation_p.G38C	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	38	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGGGGTTGCCCTGCACGGCC	0.607																																																	0													110	106	108					11																	123516402		2202	4299	6501	SO:0001583	missense	0			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	20665	protein-coding gene	gene with protein product		608214	"sodium channel, voltage-gated, type III, beta"			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.112G>T	11.37:g.123516402C>A	ENSP00000376523:p.Gly38Cys		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.G38C	ENST00000392770.2	37	c.112	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746335	0.89663	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836;ENST00000528267	D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91425	0.7294	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91683	0.5360	10	0.87932	D	0	-6.6827	20.4182	0.99029	0.0:1.0:0.0:0.0	.	38	Q9NY72	SCN3B_HUMAN	C	38	ENSP00000376523:G38C;ENSP00000299333:G38C;ENSP00000432785:G38C;ENSP00000435554:G38C;ENSP00000434363:G38C	ENSP00000299333:G38C	G	-	1	0	SCN3B	123021612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.966000	0.49208	2.820000	0.97059	0.609000	0.83330	GGC	SCN3B	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000166257		0.607	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	-	0	31	0	C	NM_018400		123516402	-1	tier1	-	no_errors	ENST00000299333	ensembl	human	known	74_37	missense	21.43	22	6	SNP	1.000	A	A	123516402	C	A	123516402	3	1	87	1	0	0	0	0	1	0	0	0	13964	623	22	3	551	3	SCN3B	11	123516402	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2026897	123516402	11490114	1180	24304											
OR6X1	390260	genome.wustl.edu	37	chr11	123624444	123624444	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttaaaggaggagtgtgcTgtgggtcttaggtacatgaa	11	12	14	4	0	2	1	0	1	2	0	2	3	2	3	0	4	2	2	0	4	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:123624444T>G	ENST00000327930.2	-	1	809	c.783A>C	c.(781-783)acA>acC	p.T261T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGAGTGTGCTGTGGGTCTTA	0.473																																																	0													89	75	80					11																	123624444		2202	4299	6501	SO:0001819	synonymous_variant	0			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"GPCR / Class A : Olfactory receptors"	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.783A>C	11.37:g.123624444T>G			B9EGW9|Q6IFA0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T261	ENST00000327930.2	37	c.783	CCDS31695.1	11																																																																																			OR6X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221931		0.473	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	HGNC	protein_coding	OTTHUMT00000387436.1	-	0	49	0	T	NM_001005188		123624444	-1	tier1	-	no_errors	ENST00000327930	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.744	G	G	123624444	T	G	123624444	2	3	87	1	0	0	0	0	0	0	0	1	11251	1567	55	4		4	OR6X1	11	123624444	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	108042	123624444	11382072	1181	24305											
VWA5A	4013	genome.wustl.edu	37	chr11	123994433	123994433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgaagcttatgcaggcCgacctagggggcactgaaat	12	7	14	8	1	0	3	0	2	0	1	0	4	0	3	2	3	2	3	2	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:123994433C>T	ENST00000456829.2	+	10	1337	c.1086C>T	c.(1084-1086)gcC>gcT	p.A362A	VWA5A_ENST00000392744.4_Silent_p.A378A|VWA5A_ENST00000392748.1_Silent_p.A362A|VWA5A_ENST00000360334.4_Silent_p.A362A|VWA5A_ENST00000449321.1_Silent_p.A362A|VWA5A_ENST00000361352.5_Silent_p.A362A	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	362	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTATGCAGGCCGACCTAGGGG	0.527																																																	0													72	71	72					11																	123994433		2201	4299	6500	SO:0001819	synonymous_variant	0			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"loss of heterozygosity, 11, chromosomal region 2, gene A"	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1086C>T	11.37:g.123994433C>T			Q6UN19|Q6UN20|Q9BVF8	Silent	SNP	pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.A362	ENST00000456829.2	37	c.1086	CCDS8444.1	11																																																																																			VWA5A	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000110002		0.527	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA5A	HGNC	protein_coding	OTTHUMT00000387273.1	-	0	58	0	C	NM_014622		123994433	1	tier1	-	no_errors	ENST00000392748	ensembl	human	known	74_37	silent	17.46	52	11	SNP	0.052	T	T	123994433	C	T	123994433	2	4	87	1	0	0	0	0	0	0	0	1	17291	639	23	1		1	VWA5A	11	123994433	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	369989	123994433	11012083	1182	24306											
ROBO4	54538	genome.wustl.edu	37	chr11	124765468	124765468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcctccaagctctgcGctctgccagccggccagcag	6	6	13	16	2	2	0	0	0	2	0	3	1	3	1	5	3	5	3	5	3	1	0	rs534292971		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:124765468G>A	ENST00000306534.3	-	6	1406	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_ENST00000533054.1_Silent_p.S162S|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	307	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S307S(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGCTCTGCGCTCTGCCAGC	0.657													G|||	1	0.000199681	0	0	5008	,	,		14922	0		0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	large_intestine(1)											33	41	38					11																	124765468		2199	4291	6490	SO:0001819	synonymous_variant	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17985	protein-coding gene	gene with protein product	"magic roundabout"	607528	"roundabout homolog 4 (Drosophila)"			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.921C>T	11.37:g.124765468G>A			A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S307	ENST00000306534.3	37	c.921	CCDS8455.1	11																																																																																			ROBO4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154133		0.657	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1		0	21	0	G	NM_019055		124765468	-1			no_errors	ENST00000306534	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.969	A	A	124765468	G	A	124765468	2	1	87	1	0	0	0	0	0	0	0	1	13561	1078	38	1		1	ROBO4	11	124765468	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	771035	124765468	10241048	1183	24307											
ETS1	2113	genome.wustl.edu	37	chr11	128359270	128359270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtctttacccagggcGcagagggctgctccattcat	9	9	11	12	1	2	1	1	0	1	1	3	1	3	1	2	2	3	4	2	2	2	3	rs549425510		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:128359270G>A	ENST00000319397.6	-	3	627	c.318C>T	c.(316-318)tgC>tgT	p.C106C	ETS1_ENST00000345075.4_Silent_p.C106C|ETS1_ENST00000531611.1_Silent_p.C106C|ETS1_ENST00000526145.2_Silent_p.C106C|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Silent_p.C150C	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	106	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.C106C(2)|p.C150C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TACCCAGGGCGCAGAGGGCTG	0.493																																																	3	Substitution - coding silent(3)	lung(2)|prostate(1)											129	131	130					11																	128359270		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1", "ets protein"	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.318C>T	11.37:g.128359270G>A			A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom	p.C150	ENST00000319397.6	37	c.450	CCDS8475.1	11																																																																																			ETS1	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transform_prot_C-ets	ENSG00000134954		0.493	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	-	0	63	0	G	NM_005238		128359270	-1	tier1	-	no_errors	ENST00000392668	ensembl	human	known	74_37	silent	26.58	58	21	SNP	0.940	A	A	128359270	G	A	128359270	2	1	87	1	0	0	0	0	0	0	0	1	5291	1079	38	1		1	ETS1	11	128359270	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3593802	128359270	6647246	1184	24308											
KCNJ5	3762	genome.wustl.edu	37	chr11	128781288	128781288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgccacagaccgtacGcgcctgctggccgagggcaa	8	5	12	16	4	0	1	0	0	0	1	0	2	0	1	5	2	3	3	5	2	2	2	rs370114584		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:128781288G>A	ENST00000338350.4	+	3	472	c.120G>A	c.(118-120)acG>acA	p.T40T	KCNJ5_ENST00000529694.1_Silent_p.T40T|KCNJ5_ENST00000533599.1_Silent_p.T40T			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	40					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	CAGACCGTACGCGCCTGCTGG	0.592																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0								G		1,4401	2.1+/-5.4	0,1,2200	84	78	80		120	-11.6	0	11		80	0,8594		0,0,4297	no	coding-synonymous	KCNJ5	NM_000890.3		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		40/420	128781288	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	0			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.120G>A	11.37:g.128781288G>A			B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.T40	ENST00000338350.4	37	c.120	CCDS8479.1	11																																																																																			KCNJ5	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	ENSG00000120457		0.592	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	-	0	50	0	G	NM_000890		128781288	1	tier1	-	no_errors	ENST00000529694	ensembl	human	known	74_37	silent	19.15	38	9	SNP	0.163	A	A	128781288	G	A	128781288	2	1	87	1	0	0	0	0	0	0	0	1	8081	1074	38	1		1	KCNJ5	11	128781288	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	422018	128781288	6225228	1185	24309											
PRDM10	56980	genome.wustl.edu	37	chr11	129827675	129827675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtggatgtacaccagcGtgtgctctggaccatccact	7	9	12	13	2	1	0	0	0	1	0	2	2	2	2	4	3	3	2	4	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:129827675G>A	ENST00000360871.3	-	3	431	c.200C>T	c.(199-201)aCg>aTg	p.T67M	PRDM10_ENST00000358825.5_Missense_Mutation_p.T67M|PRDM10_ENST00000528746.1_Missense_Mutation_p.T67M	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTACACCAGCGTGTGCTCTGG	0.488																																																	0													171	150	157					11																	129827675		2201	4297	6498	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"Zinc fingers, C2H2-type"	13995	protein-coding gene	gene with protein product	"PRDM zinc finger transcription factor", "PR-domain family member 7", "tristanin"					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.200C>T	11.37:g.129827675G>A	ENSP00000354118:p.Thr67Met		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T67M	ENST00000360871.3	37	c.200	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528170	0.85706	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000528746;ENST00000527581;ENST00000531431	T;T;T;T;T	0.58060	0.88;0.88;2.3;0.47;0.36	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	L	0.32530	0.975	0.80722	D	1	D;P;D	0.89917	0.975;0.77;1.0	B;B;D	0.83275	0.356;0.124;0.996	T	0.66913	-0.5803	10	0.87932	D	0	-17.3711	14.7624	0.69614	0.0693:0.0:0.9307:0.0	.	67;67;67	Q9NQV6-4;G3XAE5;Q9NQV6	.;.;PRD10_HUMAN	M	67	ENSP00000351686:T67M;ENSP00000354118:T67M;ENSP00000431262:T67M;ENSP00000432093:T67M;ENSP00000436681:T67M	ENSP00000351686:T67M	T	-	2	0	PRDM10	129332885	1.000000	0.71417	0.870000	0.34147	0.966000	0.64601	9.476000	0.97823	1.447000	0.47661	0.650000	0.86243	ACG	PRDM10	-	NULL	ENSG00000170325		0.488	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	-	0	38	0	G	NM_199437		129827675	-1	tier1	-	no_errors	ENST00000358825	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.999	A	A	129827675	G	A	129827675	3	1	87	1	0	0	0	0	1	0	0	0	12493	1145	40	1	3398	1	PRDM10	11	129827675	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1046387	129827675	5178841	1186	24310											
IGSF9B	22997	genome.wustl.edu	37	chr11	133790828	133790828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccgcggggctggaacCgagggctgtatgctggtggt	5	7	18	11	3	0	0	0	0	0	0	0	2	0	1	3	6	3	4	3	6	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:133790828C>T	ENST00000321016.8	-	18	3022	c.2792G>A	c.(2791-2793)cGg>cAg	p.R931Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R931Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	931	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCTGGAACCGAGGGCTGTA	0.711																																																	0													36	43	41					11																	133790828		1998	4146	6144	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2792G>A	11.37:g.133790828C>T	ENSP00000317980:p.Arg931Gln		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R931Q	ENST00000321016.8	37	c.2792		11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379779	0.82682	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.71698	-0.27;-0.59	4.44	4.44	0.53790	.	0.000000	0.40818	N	0.001010	T	0.75213	0.3819	L	0.29908	0.895	0.45076	D	0.998096	D	0.69078	0.997	D	0.67725	0.953	T	0.76217	-0.3040	10	0.42905	T	0.14	.	16.8612	0.86019	0.0:1.0:0.0:0.0	.	931	Q9UPX0	TUTLB_HUMAN	Q	931;773	ENSP00000317980:R931Q;ENSP00000436552:R773Q	ENSP00000317980:R931Q	R	-	2	0	IGSF9B	133296038	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.598000	0.67585	2.294000	0.77228	0.561000	0.74099	CGG	IGSF9B	-	NULL	ENSG00000080854		0.711	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0	83	0	C	XM_290502		133790828	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	19.40	54	13	SNP	1.000	T	T	133790828	C	T	133790828	3	4	87	1	0	0	0	0	1	0	0	0	7633	652	23	1	1265	1	IGSF9B	11	133790828	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3963153	133790828	1215688	1187	24311											
IGSF9B	22997	genome.wustl.edu	37	chr11	133802093	133802093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacagggggcatgttgAggacacgcgctgggtctgca	10	7	15	9	2	2	1	1	1	1	0	2	2	2	2	0	4	1	4	0	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:133802093A>G	ENST00000321016.8	-	8	1213	c.983T>C	c.(982-984)cTc>cCc	p.L328P	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L328P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	328	Ig-like 4.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGGCATGTTGAGGACACGCGC	0.592																																																	0													46	57	54					11																	133802093		2175	4264	6439	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.983T>C	11.37:g.133802093A>G	ENSP00000317980:p.Leu328Pro		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L328P	ENST00000321016.8	37	c.983		11	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979010	0.53827	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.21734	1.99;1.99;1.99	4.89	4.89	0.63831	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28200	0.0696	M	0.74467	2.265	0.80722	D	1	B	0.12630	0.006	B	0.23018	0.043	T	0.05419	-1.0886	9	0.35671	T	0.21	.	14.6719	0.68951	1.0:0.0:0.0:0.0	.	328	Q9UPX0	TUTLB_HUMAN	P	328;170;328	ENSP00000317980:L328P;ENSP00000436552:L170P;ENSP00000436576:L328P	ENSP00000317980:L328P	L	-	2	0	IGSF9B	133307303	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.136000	0.94489	2.051000	0.60960	0.454000	0.30748	CTC	IGSF9B	-	pfscan_Ig-like_dom	ENSG00000080854		0.592	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding			0	17	0	A	XM_290502		133802093	-1			no_errors	ENST00000321016	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	G	G	133802093	A	G	133802093	3	3	87	1	0	0	0	0	1	0	0	0	7633	304	11	4	3114	4	IGSF9B	11	133802093	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	11265	133802093	1204423	1188	24312											
VPS26B	112936	genome.wustl.edu	37	chr11	134109963	134109963	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtagttcacacactcagCacatacccagagctgaactc	13	9	6	13	0	2	2	2	1	0	1	3	2	2	2	1	0	4	4	1	0	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:134109963C>T	ENST00000281187.5	+	3	937	c.459C>T	c.(457-459)agC>agT	p.S153S	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.S153S	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	153					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453																																					Colon(171;1263 1952 15904 45703 47982)												0													190	159	170					11																	134109963		2201	4297	6498	SO:0001819	synonymous_variant	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.459C>T	11.37:g.134109963C>T			Q96A55	Silent	SNP	pfam_VPS26,superfamily_Ig_E-set	p.S153	ENST00000281187.5	37	c.459	CCDS8495.1	11																																																																																			VPS26B	-	pfam_VPS26,superfamily_Ig_E-set	ENSG00000151502		0.453	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	HGNC	protein_coding	OTTHUMT00000393591.1	-	0	67	0	C	NM_052875		134109963	1	tier1	-	no_errors	ENST00000281187	ensembl	human	known	74_37	silent	11.76	45	6	SNP	1.000	T	T	134109963	C	T	134109963	2	4	87	1	0	0	0	0	0	0	0	1	17247	709	25	3		3	VPS26B	11	134109963	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	307870	134109963	896553	1189	24313											
B3GAT1	27087	genome.wustl.edu	37	chr11	134253746	134253746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcgcagcttgtagttgCggggcgtctccacgtgcagg	4	9	15	13	5	1	0	0	0	1	0	3	0	2	0	2	3	3	5	2	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr11:134253746C>T	ENST00000524765.1	-	3	4993	c.449G>A	c.(448-450)cGc>cAc	p.R150H	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R150H|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R150H|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R163H			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CTTGTAGTTGCGGGGCGTCTC	0.736																																																	0													29	28	28					11																	134253746		2175	4238	6413	SO:0001583	missense	0			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.449G>A	11.37:g.134253746C>T	ENSP00000433847:p.Arg150His		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.R163H	ENST00000524765.1	37	c.488	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.366519	0.95900	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.39	5.39	0.77823	.	0.046617	0.85682	D	0.000000	T	0.64068	0.2565	L	0.45581	1.43	0.80722	D	1	B;P	0.39391	0.02;0.671	B;B	0.43413	0.011;0.419	T	0.65084	-0.6254	10	0.49607	T	0.09	-27.3711	19.1576	0.93517	0.0:1.0:0.0:0.0	.	163;150	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	H	150;150;150;163	ENSP00000376359:R150H;ENSP00000307875:R150H;ENSP00000433847:R150H;ENSP00000445983:R163H	ENSP00000307875:R150H	R	-	2	0	B3GAT1	133758956	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.342000	0.52159	2.541000	0.85698	0.561000	0.74099	CGC	B3GAT1	-	pfam_Glyco_trans_43	ENSG00000109956		0.736	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	-	0	83	0	C	NM_018644		134253746	-1	tier1	-	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	29.49	55	23	SNP	1.000	T	T	134253746	C	T	134253746	3	4	87	1	0	0	0	0	1	0	0	0	1254	768	27	1	567	1	B3GAT1	11	134253746	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	143783	134253746	752770	1190	24314											
DCP1B	196513	genome.wustl.edu	37	chr12	2061979	2061979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcagctgagctggcaGgtgctggtgtactagggtca	7	9	17	8	0	2	1	2	1	0	0	2	1	2	1	0	5	4	6	0	5	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:2061979G>T	ENST00000280665.6	-	7	1206	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	DCP1B_ENST00000540622.1_Missense_Mutation_p.P250H|DCP1B_ENST00000397173.4_Missense_Mutation_p.P274H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	376					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGAGCTGGCAGGTGCTGGTGT	0.552																																																	0													70	76	74					12																	2061979		2203	4300	6503	SO:0001583	missense	0			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"DCP1 decapping enzyme homolog B (S. cerevisiae)"			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1127C>A	12.37:g.2061979G>T	ENSP00000280665:p.Pro376His		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	pfam_DCP1	p.P376H	ENST00000280665.6	37	c.1127	CCDS31727.1	12	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584586	0.46110	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.23950	1.92;1.88;1.91	4.25	2.41	0.29592	.	0.965375	0.08585	N	0.923986	T	0.41050	0.1142	L	0.50333	1.59	0.09310	N	1	D;D	0.71674	0.998;0.997	D;P	0.62955	0.909;0.781	T	0.19943	-1.0290	10	0.59425	D	0.04	-4.0956	8.8398	0.35135	0.1822:0.0:0.8178:0.0	.	274;376	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	376;274;250	ENSP00000280665:P376H;ENSP00000380358:P274H;ENSP00000444374:P250H	ENSP00000280665:P376H	P	-	2	0	DCP1B	1932240	0.987000	0.35691	0.002000	0.10522	0.031000	0.12232	6.307000	0.72815	0.436000	0.26393	0.467000	0.42956	CCT	DCP1B	-	NULL	ENSG00000151065		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP1B	HGNC	protein_coding	OTTHUMT00000398244.1	-	0	52	0	G	NM_152640		2061979	-1	tier1	-	no_errors	ENST00000280665	ensembl	human	known	74_37	missense	17.78	37	8	SNP	0.011	T	T	2061979	G	T	2061979	3	4	87	1	0	0	0	0	1	0	0	0	4308	1000	35	3	738	3	DCP1B	12	2061979	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		2061979	131789916	1191	24315											
ITFG2	55846	genome.wustl.edu	37	chr12	2932038	2932038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaaccgcaccgtcgtcCgcttccaagtggatgaaaat	12	8	8	13	4	1	1	1	1	0	0	4	2	3	2	4	1	1	2	4	1	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:2932038C>T	ENST00000228799.2	+	10	1166	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	ITFG2_ENST00000542548.1_Missense_Mutation_p.R231C|ITFG2_ENST00000419778.2_Missense_Mutation_p.R166C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	343					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CACCGTCGTCCGCTTCCAAGT	0.522																																																	0													147	111	123					12																	2932038		2203	4300	6503	SO:0001583	missense	0			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.1027C>T	12.37:g.2932038C>T	ENSP00000228799:p.Arg343Cys		A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	pfam_FG-GAP,superfamily_WD40_repeat_dom	p.R343C	ENST00000228799.2	37	c.1027	CCDS8513.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339539	0.81911	.	.	ENSG00000111203	ENST00000228799;ENST00000419778;ENST00000542548	T;T;T	0.70749	-0.51;2.29;2.29	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.82139	0.4972	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84155	0.0425	10	0.87932	D	0	-1.7584	12.7649	0.57386	0.1752:0.8248:0.0:0.0	.	343	Q969R8	ITFG2_HUMAN	C	343;166;231	ENSP00000228799:R343C;ENSP00000401103:R166C;ENSP00000437870:R231C	ENSP00000228799:R343C	R	+	1	0	ITFG2	2802299	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.064000	0.57506	2.268000	0.75426	0.561000	0.74099	CGC	ITFG2	-	superfamily_WD40_repeat_dom	ENSG00000111203		0.522	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG2	HGNC	protein_coding	OTTHUMT00000253091.1	-	0	64	0	C	NM_018463		2932038	1	tier1	-	no_errors	ENST00000228799	ensembl	human	known	74_37	missense	7.27	49	4	SNP	1.000	T	T	2932038	C	T	2932038	3	4	87	1	0	0	0	0	1	0	0	0	7897	652	23	1	1065	1	ITFG2	12	2932038	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	870059	2932038	130919857	1192	24316											
PRMT8	56341	genome.wustl.edu	37	chr12	3600863	3600863	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacgcggccgagagcacCgaggtaaggaggcgagcgag	12	1	19	9	6	0	2	0	0	0	2	0	8	0	3	2	4	3	2	2	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:3600863C>A	ENST00000382622.3	+	1	462	c.72C>A	c.(70-72)acC>acA	p.T24T	PRMT8_ENST00000452611.2_Intron	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	24					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCGAGAGCACCGAGGTAAGGA	0.677																																																	0													40	38	39					12																	3600863		2201	4300	6501	SO:0001819	synonymous_variant	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"Protein arginine methyltransferases"	5188	protein-coding gene	gene with protein product		610086	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)", "HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.72C>A	12.37:g.3600863C>A			B2RDP0|Q8TBJ8	Silent	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.T24	ENST00000382622.3	37	c.72	CCDS8521.2	12																																																																																			PRMT8	-	NULL	ENSG00000111218		0.677	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	-	0	22	0	C	NM_019854		3600863	1	tier1	-	no_errors	ENST00000382622	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.999	A	A	3600863	C	A	3600863	2	1	87	1	0	0	0	0	0	0	0	1	12584	639	23	2		2	PRMT8	12	3600863	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	668825	3600863	130251032	1193	24317											
GALNT8	26290	genome.wustl.edu	37	chr12	4848347	4848347	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcttcggaagacataTccttcccaactcccatccct	10	11	5	15	1	1	2	0	0	1	2	6	3	5	3	4	1	1	0	4	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:4848347T>C	ENST00000252318.2	+	3	865	c.528T>C	c.(526-528)taT>taC	p.Y176Y	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	176					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGAAGACATATCCTTCCCAAC	0.388																																					Colon(108;631 1558 7270 20097 39846)												0													117	104	109					12																	4848347		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.528T>C	12.37:g.4848347T>C			B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.Y176	ENST00000252318.2	37	c.528	CCDS8533.1	12																																																																																			GALNT8	-	NULL	ENSG00000130035		0.388	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0	46	0	T	NM_017417		4848347	1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	silent	21.31	48	13	SNP	0.490	C	C	4848347	T	C	4848347	2	2	87	1	0	0	0	0	0	0	0	1	6244	1442	50	4		4	GALNT8	12	4848347	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1247484	4848347	129003548	1194	24318											
GALNT8	26290	genome.wustl.edu	37	chr12	4848418	4848418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtccattatacaacgggCcatcaccagtatcatcaacc	12	10	5	14	1	4	0	3	0	1	0	5	0	5	0	4	1	3	1	4	1	5	3	rs576971845		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:4848418C>G	ENST00000252318.2	+	3	936	c.599C>G	c.(598-600)gCc>gGc	p.A200G	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	200	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATACAACGGGCCATCACCAGT	0.443																																					Colon(108;631 1558 7270 20097 39846)												0													144	127	133					12																	4848418		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.599C>G	12.37:g.4848418C>G	ENSP00000252318:p.Ala200Gly		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A200G	ENST00000252318.2	37	c.599	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270586	0.59540	.	.	ENSG00000130035	ENST00000252318	T	0.61274	0.12	4.36	3.46	0.39613	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	T	0.74635	0.3742	M	0.84219	2.685	0.34397	D	0.694852	D	0.89917	1.0	D	0.79108	0.992	T	0.82729	-0.0313	10	0.72032	D	0.01	.	10.314	0.43725	0.0:0.9014:0.0:0.0986	.	200	Q9NY28	GALT8_HUMAN	G	200	ENSP00000252318:A200G	ENSP00000252318:A200G	A	+	2	0	GALNT8	4718679	0.996000	0.38824	0.710000	0.30468	0.388000	0.30384	5.147000	0.64851	1.042000	0.40150	0.561000	0.74099	GCC	GALNT8	-	pfam_Glyco_trans_2	ENSG00000130035		0.443	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0	61	0	C	NM_017417		4848418	1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	23.81	48	15	SNP	0.994	G	G	4848418	C	G	4848418	3	3	87	1	0	0	0	0	1	0	0	0	6244	739	26	5	609	5	GALNT8	12	4848418	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	71	4848418	129003477	1195	24319											
NCAPD2	9918	genome.wustl.edu	37	chr12	6623452	6623452	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggttactggctgttgctaCcgccttctggagaatcccac	6	13	10	12	1	1	1	0	0	1	1	2	2	2	1	3	3	3	4	3	3	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6623452C>T	ENST00000315579.5	+	7	1408	c.609C>T	c.(607-609)taC>taT	p.Y203Y	NCAPD2_ENST00000545962.1_Silent_p.Y158Y	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	203	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCTGTTGCTACCGCCTTCTGG	0.473																																																	0													99	108	105					12																	6623452		2203	4300	6503	SO:0001819	synonymous_variant	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.609C>T	12.37:g.6623452C>T			D3DUR4|Q8N6U3	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.Y203	ENST00000315579.5	37	c.609	CCDS8548.1	12																																																																																			NCAPD2	-	pirsf_Condensin_cplx_su1	ENSG00000010292		0.473	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0	69	0	C	NM_014865		6623452	1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	silent	11.86	52	7	SNP	1.000	T	T	6623452	C	T	6623452	2	4	87	1	0	0	0	0	0	0	0	1	10244	518	18	3		3	NCAPD2	12	6623452	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1775034	6623452	127228443	1196	24320											
GAPDH	2597	genome.wustl.edu	37	chr12	6646278	6646278	+	Frame_Shift_Del	DEL	G	G	-																															ctgctgtaggctcatttgcaGgggggagccaaaagggtcat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6646278delG	ENST00000229239.5	+	6	1005	c.339delG	c.(337-339)cagfs	p.Q113fs	GAPDH_ENST00000396859.1_Frame_Shift_Del_p.Q113fs|GAPDH_ENST00000396856.1_Frame_Shift_Del_p.Q38fs|GAPDH_ENST00000396861.1_Frame_Shift_Del_p.Q113fs|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Frame_Shift_Del_p.Q71fs	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	113	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						CTCATTTGCAGGGGGGAGCCA	0.572																																																	0													40	43	42					12																	6646278		2203	4300	6503	SO:0001589	frameshift_variant	0			AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.339delG	12.37:g.6646278delG	ENSP00000229239:p.Gln113fs		E7EUT4|P00354|Q53X65	Frame_Shift_Del	DEL	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.G115fs	ENST00000229239.5	37	c.339	CCDS8549.1	12																																																																																			GAPDH	-	pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000111640		0.572	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDH	HGNC	protein_coding	OTTHUMT00000268059.1		0	57	0	G	NM_002046		6646278	1	tier1		no_errors	ENST00000229239	ensembl	human	known	74_37	frame_shift_del	23.64	42	13	DEL	1.000	-	-	6646278	G	-	6646278	7	5	87	1	0	1	0	1	0	0	0	0	6261	991	35	0	357	0	GAPDH	12	6646278	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	22826	6646278	127205617	1197	24321											
CHD4	1108	genome.wustl.edu	37	chr12	6700898	6700898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgatgcccaccctccttaaGgttcttgagcattttctgca	8	13	7	13	1	2	1	0	1	2	0	3	2	3	1	3	1	3	3	3	1	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6700898G>T	ENST00000357008.2	-	21	3347	c.3184C>A	c.(3184-3186)Ctt>Att	p.L1062I	CHD4_ENST00000544040.1_Missense_Mutation_p.L1055I|CHD4_ENST00000544484.1_Missense_Mutation_p.L1059I|CHD4_ENST00000309577.6_Missense_Mutation_p.L1062I	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1062	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCCTCCTTAAGGTTCTTGAGC	0.463																																					Colon(32;586 792 4568 16848 45314)												0													127	121	123					12																	6700898		2203	4300	6503	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3184C>A	12.37:g.6700898G>T	ENSP00000349508:p.Leu1062Ile		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1062I	ENST00000357008.2	37	c.3184	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050832	0.75960	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.15	5.15	0.70609	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.89220	0.6653	M	0.66439	2.03	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.996	D;D;D	0.85130	0.994;0.997;0.986	D	0.89941	0.4073	10	0.87932	D	0	.	12.027	0.53375	0.0792:0.0:0.9208:0.0	.	1062;1062;1055	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	1059;1055;1062;1062;1036	ENSP00000440392:L1059I;ENSP00000440542:L1055I;ENSP00000312419:L1062I;ENSP00000349508:L1062I	ENSP00000312419:L1062I	L	-	1	0	CHD4	6571159	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	6.558000	0.73942	2.402000	0.81655	0.655000	0.94253	CTT	CHD4	-	pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000111642		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		-	0	64	0	G	NM_001273		6700898	-1	tier1	-	no_errors	ENST00000309577	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	6700898	G	T	6700898	3	4	87	1	0	0	0	0	1	0	0	0	3334	1000	35	3	2634	3	CHD4	12	6700898	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	54620	6700898	127150997	1198	24322											
ZNF384	171017	genome.wustl.edu	37	chr12	6788170	6788170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatattctgggtaacggaCgcttggctgtgtggggtcag	6	12	17	6	2	2	1	1	1	1	0	2	2	2	2	0	5	1	3	0	5	2	4	rs139381786		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6788170C>T	ENST00000396801.3	-	4	453	c.246G>A	c.(244-246)gcG>gcA	p.A82A	ZNF384_ENST00000355772.4_Silent_p.A82A|ZNF384_ENST00000396799.2_Silent_p.A82A|ZNF384_ENST00000319770.3_Silent_p.A82A|ZNF384_ENST00000396795.1_Silent_p.A82A|ZNF384_ENST00000361959.3_Silent_p.A82A	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	82					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						GGGTAACGGACGCTTGGCTGT	0.562			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0								C	,,	2,4404	4.2+/-10.8	0,2,2201	181	169	173		246,246,246	-10.5	0	12	dbSNP_134	173	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF384	NM_001039920.2,NM_001135734.2,NM_133476.4	,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,	82/462,82/578,82/517	6788170	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.246G>A	12.37:g.6788170C>T			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A82	ENST00000396801.3	37	c.246	CCDS44817.1	12																																																																																			ZNF384	-	NULL	ENSG00000126746		0.562	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1		0	21	0	C			6788170	-1			no_errors	ENST00000361959	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.005	T	T	6788170	C	T	6788170	2	4	87	1	0	0	0	0	0	0	0	1	17923	523	19	1		1	ZNF384	12	6788170	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	87272	6788170	127063725	1199	24323											
LAG3	3902	genome.wustl.edu	37	chr12	6886966	6886966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctccataggtgcccaacGctctgggagagccccaggtg	7	9	12	13	1	2	1	0	0	2	1	3	2	2	1	4	3	3	1	4	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:6886966G>A	ENST00000203629.2	+	7	1643	c.1310G>A	c.(1309-1311)cGc>cAc	p.R437H		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	437					cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)	p.R437H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGTGCCCAACGCTCTGGGAGA	0.532																																																	1	Substitution - Missense(1)	endometrium(1)											89	87	87					12																	6886966		2203	4300	6503	SO:0001583	missense	0				CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.1310G>A	12.37:g.6886966G>A	ENSP00000203629:p.Arg437His		A8K7T9|Q7Z643	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.R437H	ENST00000203629.2	37	c.1310	CCDS8561.1	12	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791826	0.50102	.	.	ENSG00000089692	ENST00000203629	T	0.13307	2.6	5.32	-2.42	0.06542	.	0.965647	0.08575	N	0.925492	T	0.11281	0.0275	M	0.68317	2.08	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.42582	-0.9443	10	0.27082	T	0.32	-2.117	0.414	0.00445	0.2727:0.1251:0.2654:0.3368	.	437	P18627	LAG3_HUMAN	H	437	ENSP00000203629:R437H	ENSP00000203629:R437H	R	+	2	0	LAG3	6757227	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.482000	0.06544	-0.271000	0.09272	-0.391000	0.06502	CGC	LAG3	-	NULL	ENSG00000089692		0.532	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAG3	HGNC	protein_coding	OTTHUMT00000402846.1	-	0	43	0	G			6886966	1	tier1	-	no_errors	ENST00000203629	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.000	A	A	6886966	G	A	6886966	3	1	87	1	0	0	0	0	1	0	0	0	8628	1087	38	1	1336	1	LAG3	12	6886966	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	98796	6886966	126964929	1200	24324											
ENO2	2026	genome.wustl.edu	37	chr12	7026786	7026786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggtgtgtctctggccGtgtgtaaggcaggggcagct	4	11	17	9	1	1	0	0	0	1	0	3	0	2	0	2	5	1	4	2	5	1	1	rs374122047		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:7026786G>A	ENST00000535366.1	+	5	978	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	ENO2_ENST00000541477.1_Missense_Mutation_p.V118M|ENO2_ENST00000229277.1_Missense_Mutation_p.V118M|ENO2_ENST00000544774.1_Missense_Mutation_p.V75M|ENO2_ENST00000545045.2_Intron|ENO2_ENST00000538763.1_Missense_Mutation_p.V75M			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	118					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GTCTCTGGCCGTGTGTAAGGC	0.582																																																	0								G	MET/VAL	0,4406		0,0,2203	97	82	87		352	3.9	1	12		87	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENO2	NM_001975.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	118/435	7026786	1,13005	2203	4300	6503	SO:0001583	missense	0			M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.352G>A	12.37:g.7026786G>A	ENSP00000437402:p.Val118Met		B7Z2X9|Q96J33	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.V118M	ENST00000535366.1	37	c.352	CCDS8570.1	12	.	.	.	.	.	.	.	.	.	.	g	20.6	4.022462	0.75275	0.0	1.16E-4	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366	T;T;T;T;T	0.35236	1.32;1.32;1.38;1.38;1.32	4.79	3.88	0.44766	Enolase, N-terminal (1);	0.241988	0.42682	D	0.000670	T	0.72162	0.3426	H	0.97783	4.075	0.53005	D	0.99996	D;D	0.71674	0.996;0.998	D;D	0.69824	0.951;0.966	T	0.83192	-0.0083	10	0.87932	D	0	-22.1653	14.032	0.64622	0.0776:0.0:0.9224:0.0	.	75;118	B7Z2X9;P09104	.;ENOG_HUMAN	M	118;118;75;75;118	ENSP00000438873:V118M;ENSP00000229277:V118M;ENSP00000441490:V75M;ENSP00000446195:V75M;ENSP00000437402:V118M	ENSP00000229277:V118M	V	+	1	0	ENO2	6897047	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	3.638000	0.54332	2.389000	0.81357	0.550000	0.68814	GTG	ENO2	-	pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	ENSG00000111674		0.582	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO2	HGNC	protein_coding	OTTHUMT00000401786.1	-	0	49	0	G			7026786	1	tier1	-	no_errors	ENST00000229277	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.997	A	A	7026786	G	A	7026786	3	1	87	1	0	0	0	0	1	0	0	0	5138	1145	40	1	370	1	ENO2	12	7026786	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	139820	7026786	126825109	1201	24325											
CLSTN3	9746	genome.wustl.edu	37	chr12	7310658	7310658	+	Frame_Shift_Del	DEL	C	C	-																															cgagagacgcatcatcgagaCccccccacaccgctactaag																								rs79149590	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:7310658delC	ENST00000266546.6	+	18	3302	c.2852delC	c.(2851-2853)accfs	p.T951fs	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Frame_Shift_Del_p.T963fs	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	951					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ATCATCGAGACCCCCCCACAC	0.617																																																	0													64	47	52					12																	7310658		2157	4183	6340	SO:0001589	frameshift_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"Cadherins / Cadherin-related"	18371	protein-coding gene	gene with protein product	"cadherin-related family member 14"	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2852delC	12.37:g.7310658delC	ENSP00000266546:p.Thr951fs		D3DUT6|O94831|Q2T9J5|Q5UE57	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P953fs	ENST00000266546.6	37	c.2852	CCDS8575.1	12																																																																																			CLSTN3	-	NULL	ENSG00000139182		0.617	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2		0	30	0	C	NM_014718		7310658	1	tier1		no_errors	ENST00000266546	ensembl	human	known	74_37	frame_shift_del	28.12	23	9	DEL	0.088	-	-	7310658	C	-	7310658	7	5	87	1	0	1	0	1	0	0	0	0	3570	507	18	0	2922	0	CLSTN3	12	7310658	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	283872	7310658	126541237	1202	24326											
ZNF705A	440077	genome.wustl.edu	37	chr12	8327007	8327007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccaagagaaagctgtacaGagatgtgatgctggaaaata	17	8	11	5	0	0	3	0	1	0	2	1	6	1	4	1	1	3	3	1	1	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8327007G>A	ENST00000359286.4	+	2	187	c.98G>A	c.(97-99)aGa>aAa	p.R33K		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AAGCTGTACAGAGATGTGATG	0.428																																																	0													19	21	20					12																	8327007		989	2074	3063	SO:0001583	missense	0			AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.98G>A	12.37:g.8327007G>A	ENSP00000352233:p.Arg33Lys			Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R33K	ENST00000359286.4	37	c.98	CCDS31737.1	12	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511774	0.44660	.	.	ENSG00000196946	ENST00000402465;ENST00000396570;ENST00000359286	T;T;T	0.02301	4.35;4.35;4.35	1.57	-0.464	0.12160	Krueppel-associated box (4);	.	.	.	.	T	0.02119	0.0066	L	0.47016	1.485	0.19300	N	0.99998	B	0.19445	0.036	B	0.10450	0.005	T	0.47368	-0.9123	9	0.22109	T	0.4	.	4.1887	0.10411	0.4081:0.0:0.5919:0.0	.	33	Q6ZN79	Z705A_HUMAN	K	33	ENSP00000384896:R33K;ENSP00000379816:R33K;ENSP00000352233:R33K	ENSP00000352233:R33K	R	+	2	0	ZNF705A	8218274	0.045000	0.20229	0.770000	0.31555	0.330000	0.28571	0.650000	0.24858	-0.110000	0.12022	-0.587000	0.04127	AGA	ZNF705A	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196946		0.428	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF705A	HGNC	protein_coding	OTTHUMT00000400449.1	-	0	125	0	G	NM_001004328		8327007	1	tier1	-	no_errors	ENST00000359286	ensembl	human	known	74_37	missense	10.34	78	9	SNP	0.866	A	A	8327007	G	A	8327007	3	1	87	1	0	0	0	0	1	0	0	0	18156	942	33	3	104	3	ZNF705A	12	8327007	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1016349	8327007	125524888	1203	24327											
FAM90A1	55138	genome.wustl.edu	37	chr12	8374830	8374830	+	Frame_Shift_Del	DEL	G	G	-																															gcggaggttggagattctccGgggcccccagctcacctccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8374830delG	ENST00000538603.1	-	7	1541	c.983delC	c.(982-984)ccgfs	p.P328fs	FAM90A1_ENST00000307435.6_Frame_Shift_Del_p.P328fs	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	328							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GAGATTCTCCGGGGCCCCCAG	0.652																																																	0													12	13	13					12																	8374830		2142	4226	6368	SO:0001589	frameshift_variant	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.983delC	12.37:g.8374830delG	ENSP00000445418:p.Pro328fs		D3DUU9|Q9NVZ6	Frame_Shift_Del	DEL	NULL	p.P328fs	ENST00000538603.1	37	c.983	CCDS31738.1	12																																																																																			FAM90A1	-	NULL	ENSG00000171847		0.652	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	HGNC	protein_coding	OTTHUMT00000400468.1		0	197	0	G	NM_018088		8374830	-1			no_errors	ENST00000307435	ensembl	human	known	74_37	frame_shift_del	9.28	176	18	DEL	0.001	0	-	8374830	G	-	8374830	7	5	87	1	0	1	0	1	0	0	0	0	5672	1116	39	0	415	0	FAM90A1	12	8374830	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	47823	8374830	125477065	1204	24328											
AICDA	57379	genome.wustl.edu	37	chr12	8756903	8756903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcccaaagtacgaaatgCgtctcgtaagtcatcaacct	14	9	7	11	3	3	0	2	0	1	0	5	1	4	0	2	0	3	2	2	0	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8756903C>T	ENST00000229335.6	-	5	677	c.574G>A	c.(574-576)Gca>Aca	p.A192T	AICDA_ENST00000537228.1_Missense_Mutation_p.A182T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	192	Nuclear export signal.				B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTACGAAATGCGTCTCGTAAG	0.463																																					GBM(62;896 1067 5527 26594 30137)												0													96	92	93					12																	8756903		1898	4112	6010	SO:0001583	missense	0			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.574G>A	12.37:g.8756903C>T	ENSP00000229335:p.Ala192Thr		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.A192T	ENST00000229335.6	37	c.574	CCDS41747.1	12	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740782	0.69304	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.66815	-0.06;-0.23	5.11	5.11	0.69529	.	0.107204	0.64402	D	0.000006	T	0.52613	0.1745	L	0.38531	1.155	0.49299	D	0.999773	P;P	0.44659	0.84;0.672	B;B	0.31390	0.129;0.091	T	0.61667	-0.7016	10	0.56958	D	0.05	-10.5451	15.2812	0.73787	0.0:1.0:0.0:0.0	.	192;182	Q9GZX7;Q6QJ81	AICDA_HUMAN;.	T	192;182	ENSP00000229335:A192T;ENSP00000445691:A182T	ENSP00000229335:A192T	A	-	1	0	AICDA	8648170	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	4.876000	0.63079	2.386000	0.81285	0.650000	0.86243	GCA	AICDA	-	NULL	ENSG00000111732		0.463	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AICDA	HGNC	protein_coding	OTTHUMT00000400575.1	-	0	33	0	C	NM_020661		8756903	-1	tier1	-	no_errors	ENST00000229335	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T	T	8756903	C	T	8756903	3	4	87	1	0	0	0	0	1	0	0	0	422	768	27	1	26	1	AICDA	12	8756903	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	382073	8756903	125094992	1205	24329											
AICDA	57379	genome.wustl.edu	37	chr12	8757882	8757882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccctcgggctcagccttgCggtcctcacagaagtagagg	7	7	13	14	2	2	2	2	0	0	2	4	2	3	2	4	3	2	2	4	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:8757882C>T	ENST00000229335.6	-	3	459	c.356G>A	c.(355-357)cGc>cAc	p.R119H	AICDA_ENST00000537228.1_Missense_Mutation_p.R119H	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	119				R -> H (in Ref. 3; AAM95406). {ECO:0000305}.	B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CTCAGCCTTGCGGTCCTCACA	0.647																																					GBM(62;896 1067 5527 26594 30137)												0													26	28	27					12																	8757882		1921	4121	6042	SO:0001583	missense	0			AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"Apolipoprotein B mRNA editing enzymes"	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.356G>A	12.37:g.8757882C>T	ENSP00000229335:p.Arg119His		Q6QJ81|Q8NFC1	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R119H	ENST00000229335.6	37	c.356	CCDS41747.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.14|11.14	1.550683|1.550683	0.27739|0.27739	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000543081;ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.67865	.|-0.29;-0.29	5.29|5.29	-3.27|-3.27	0.05048|0.05048	.|Cytidine deaminase-like (1);	.|0.729010	.|0.14471	.|N	.|0.317600	T|T	0.48150|0.48150	0.1484|0.1484	L|L	0.60067|0.60067	1.865|1.865	0.26348|0.26348	N|N	0.97725|0.97725	.|B;P;B	.|0.40282	.|0.404;0.711;0.404	.|B;B;B	.|0.31442	.|0.082;0.13;0.082	T|T	0.41466|0.41466	-0.9507|-0.9507	5|10	.|0.25106	.|T	.|0.35	0.0026|0.0026	5.5388|5.5388	0.17026|0.17026	0.2081:0.4383:0.0:0.3536|0.2081:0.4383:0.0:0.3536	.|.	.|119;119;119	.|Q9GZX7;Q6QJ80;Q6QJ81	.|AICDA_HUMAN;.;.	T|H	118|119	.|ENSP00000229335:R119H;ENSP00000445691:R119H	.|ENSP00000229335:R119H	A|R	-|-	1|2	0|0	AICDA|AICDA	8649149|8649149	0.950000|0.950000	0.32346|0.32346	0.080000|0.080000	0.20451|0.20451	0.831000|0.831000	0.47069|0.47069	0.601000|0.601000	0.24119|0.24119	-0.554000|-0.554000	0.06150|0.06150	0.561000|0.561000	0.74099|0.74099	GCA|CGC	AICDA	-	superfamily_Cytidine_deaminase-like	ENSG00000111732		0.647	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AICDA	HGNC	protein_coding	OTTHUMT00000400575.1	-	0	41	0	C	NM_020661		8757882	-1	tier1	-	no_errors	ENST00000229335	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.082	T	T	8757882	C	T	8757882	3	4	87	1	0	0	0	0	1	0	0	0	422	768	27	1	252	1	AICDA	12	8757882	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	979	8757882	125094013	1206	24330											
PHC1	1911	genome.wustl.edu	37	chr12	9089508	9089508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtgggaagtacgcccccGcagagcagtttcgtggctct	7	9	13	12	3	1	1	0	0	1	1	2	2	1	2	2	2	2	5	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:9089508G>A	ENST00000543824.1	+	13	2757	c.2425G>A	c.(2425-2427)Gca>Aca	p.A809T	PHC1_ENST00000544916.1_Missense_Mutation_p.A809T|PHC1_ENST00000536844.1_Missense_Mutation_p.A415T|PHC1_ENST00000433083.2_Missense_Mutation_p.A764T			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	809					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GTACGCCCCCGCAGAGCAGTT	0.517													G|||	1	0.000199681	0	0	5008	,	,		-128	0		0.001	False		,,,				2504	0																0													99	84	89					12																	9089508		2203	4297	6500	SO:0001583	missense	0			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"Sterile alpha motif (SAM) domain containing"	3182	protein-coding gene	gene with protein product		602978	"early development regulator 1 (homolog of polyhomeotic 1)", "polyhomeotic-like 1 (Drosophila)"	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2425G>A	12.37:g.9089508G>A	ENSP00000440674:p.Ala809Thr		D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.A809T	ENST00000543824.1	37	c.2425	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798306	0.90538	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.56	5.56	0.83823	Zinc finger, FCS-type (1);Zinc finger, MYM-type (1);	0.153411	0.44285	D	0.000476	T	0.58991	0.2161	L	0.58810	1.83	0.80722	D	1	D	0.61697	0.99	P	0.52159	0.691	T	0.62277	-0.6888	10	0.72032	D	0.01	-7.0979	19.136	0.93428	0.0:0.0:1.0:0.0	.	809	P78364	PHC1_HUMAN	T	809;809;764;809;415	ENSP00000440674:A809T;ENSP00000251757:A809T;ENSP00000399194:A764T;ENSP00000437659:A809T;ENSP00000440488:A415T	ENSP00000251757:A809T	A	+	1	0	PHC1	8980775	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	9.421000	0.97455	2.614000	0.88457	0.561000	0.74099	GCA	PHC1	-	pfam_Znf_MYM,pfscan_Znf_FCS	ENSG00000111752		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	-	0	49	0	G	NM_004426		9089508	1	tier1	-	no_errors	ENST00000543824	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	9089508	G	A	9089508	3	1	87	1	0	0	0	0	1	0	0	0	11855	1087	38	1	2467	1	PHC1	12	9089508	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	331626	9089508	124762387	1207	24331											
C12orf59	120939	genome.wustl.edu	37	chr12	10342726	10342726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgactcgaatagttgActcttggaactgatgagagc	11	10	13	7	2	1	3	0	3	1	1	3	8	1	5	0	2	2	1	0	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:10342726A>G	ENST00000381923.2	+	6	943	c.539A>G	c.(538-540)gAc>gGc	p.D180G	TMEM52B_ENST00000536952.1_Missense_Mutation_p.D180G|TMEM52B_ENST00000298530.3_Missense_Mutation_p.D160G			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	180						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CGAATAGTTGACTCTTGGAAC	0.463																																																	0													58	60	59					12																	10342726		2203	4300	6503	SO:0001583	missense	0			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 59"	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.539A>G	12.37:g.10342726A>G	ENSP00000371348:p.Asp180Gly		Q96NA7	Missense_Mutation	SNP	NULL	p.D180G	ENST00000381923.2	37	c.539		12	.	.	.	.	.	.	.	.	.	.	A	3.189	-0.166250	0.06461	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	.	.	.	4.07	-2.61	0.06171	.	1.848190	0.02585	N	0.099241	T	0.22437	0.0541	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13899	-1.0492	9	0.22706	T	0.39	0.3579	7.6388	0.28282	0.242:0.5802:0.1778:0.0	.	180;160	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	G	180;160;180	.	ENSP00000298530:D160G	D	+	2	0	C12orf59	10233993	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.477000	0.06583	-0.491000	0.06697	-0.399000	0.06403	GAC	TMEM52B	-	NULL	ENSG00000165685		0.463	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	HGNC	protein_coding	OTTHUMT00000399645.1	-	0	33	0	A	NM_153022		10342726	1	tier1	-	no_errors	ENST00000381923	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.000	G	G	10342726	A	G	10342726	3	3	87	1	0	0	0	0	1	0	0	0	1707	275	10	4	493	4	C12orf59	12	10342726	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1253218	10342726	123509169	1208	24332											
PRB1	5542	genome.wustl.edu	37	chr12	11506732	11506732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggttacctccttgtGggggtggtccttgtggtttt	1	16	17	7	0	0	0	0	0	0	0	2	0	2	0	3	7	1	3	3	7	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:11506732G>T	ENST00000500254.2	-	3	342	c.305C>A	c.(304-306)cCa>cAa	p.P102Q	PRB1_ENST00000546254.1_Missense_Mutation_p.P102Q|PRB1_ENST00000545626.1_Missense_Mutation_p.P102Q	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	41	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACCTCCTTGTGGGGGTGGTCC	0.622																																																	0													173	215	201					12																	11506732		2160	4269	6429	SO:0001583	missense	0				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.305C>A	12.37:g.11506732G>T	ENSP00000420826:p.Pro102Gln		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	NULL	p.P102Q	ENST00000500254.2	37	c.305	CCDS8642.1	12	.	.	.	.	.	.	.	.	.	.	.	3.655	-0.070629	0.07228	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.06218	3.33;3.5;3.5	1.56	-2.16	0.07080	.	.	.	.	.	T	0.04679	0.0127	L	0.37507	1.11	0.09310	N	1	B;B;B	0.27166	0.17;0.17;0.17	B;B;B	0.19391	0.025;0.025;0.025	T	0.36866	-0.9730	9	0.87932	D	0	.	3.9531	0.09377	0.1456:0.0:0.4426:0.4118	.	109;102;102	Q86YA1;G3V1R1;G3V1M9	.;.;.	Q	102	ENSP00000444249:P102Q;ENSP00000420826:P102Q;ENSP00000442127:P102Q	ENSP00000420826:P102Q	P	-	2	0	PRB1	11397999	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	-0.581000	0.05820	-0.693000	0.05121	-0.800000	0.03216	CCA	PRB1	-	NULL	ENSG00000251655		0.622	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRB1	HGNC	protein_coding	OTTHUMT00000402312.1	-	0	173	0	G	NM_005039		11506732	-1	tier1	-	no_errors	ENST00000500254	ensembl	human	known	74_37	missense	11.51	123	16	SNP	0.003	T	T	11506732	G	T	11506732	3	4	87	1	0	0	0	0	1	0	0	0	12484	1348	47	3	694	3	PRB1	12	11506732	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1164006	11506732	122345163	1209	24333											
PRB2	653247	genome.wustl.edu	37	chr12	11546379	11546379	+	Silent	SNP	T	T	C																															ggaggtgggggaccttgaggTttgttgcctccttgtggggg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:11546379T>C	ENST00000389362.4	-	3	668	c.633A>G	c.(631-633)aaA>aaG	p.K211K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	211	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACCTTGAGGTTTGTTGCCTC	0.602																																																	0													68	88	81					12																	11546379		2050	4136	6186	SO:0001819	synonymous_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.633A>G	12.37:g.11546379T>C			O00599|P02811|P04281	Silent	SNP	NULL	p.K211	ENST00000389362.4	37	c.633	CCDS41757.2	12																																																																																			PRB2	-	NULL	ENSG00000121335		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0	86	0	T	NM_006248		11546379	-1	tier1	-	no_errors	ENST00000389362	ensembl	human	known	74_37	silent	6.86	92	7	SNP	0.102	C	C	11546379	T	C	11546379	2	2	87	1	0	0	0	0	0	0	0	1	12485	1722	60	4		4	PRB2	12	11546379	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	39647	11546379	122305516	1210	24334	94	2									
PRB2	653247	genome.wustl.edu	37	chr12	11546381	11546381	+	Missense_Mutation	SNP	T	T	G																															aggtgggggaccttgaggttTgttgcctccttgtgggggtg																								rs201455726		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:11546381T>G	ENST00000389362.4	-	3	666	c.631A>C	c.(631-633)Aaa>Caa	p.K211Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	211	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGAGGTTTGTTGCCTCCT	0.602																																																	0								G	GLN/LYS	3,4103		0,3,2050	67	86	80		631		0	12		80	23,8247		0,23,4112	no	missense	PRB2	NM_006248.3	53	0,26,6162	GG,GT,TT		0.2781,0.0731,0.2101	possibly-damaging	211/417	11546381	26,12350	2053	4135	6188	SO:0001583	missense	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.631A>C	12.37:g.11546381T>G	ENSP00000374013:p.Lys211Gln		O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.K211Q	ENST00000389362.4	37	c.631	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	2.662	-0.279436	0.05642	7.31E-4	0.002781	ENSG00000121335	ENST00000389362	T	0.04406	3.63	.	.	.	.	3.389640	0.02448	N	0.085243	T	0.01940	0.0061	N	0.02315	-0.6	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.33929	-0.9849	8	0.19147	T	0.46	.	.	.	.	.	211	P02812	PRB2_HUMAN	Q	211	ENSP00000374013:K211Q	ENSP00000374013:K211Q	K	-	1	0	PRB2	11437648	0.001000	0.12720	0.027000	0.17364	0.662000	0.39071	-2.591000	0.00899	0.149000	0.19098	0.147000	0.16070	AAA	PRB2	-	NULL	ENSG00000121335		0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	-	0	85	0	T	NM_006248		11546381	-1	tier1	rs201455726	no_errors	ENST00000389362	ensembl	human	known	74_37	missense	7.77	95	8	SNP	0.033	G	G	11546381	T	G	11546381	3	3	87	1	0	0	0	0	1	0	0	0	12485	1821	63	4	623	4	PRB2	12	11546381	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2	11546381	122305514	1211	24335	94	2									
MANSC1	54682	genome.wustl.edu	37	chr12	12483849	12483849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtaagagagaatcttcctgGggtaactcttggcttggcaa	10	12	12	7	0	2	2	0	0	2	2	3	3	3	2	1	4	1	4	1	4	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:12483849G>A	ENST00000535902.1	-	4	971	c.408C>T	c.(406-408)ccC>ccT	p.P136P	MANSC1_ENST00000396349.3_Silent_p.P102P|MANSC1_ENST00000545735.1_Silent_p.P55P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	136						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AATCTTCCTGGGGTAACTCTT	0.423																																																	0													101	97	99					12																	12483849		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.408C>T	12.37:g.12483849G>A			Q8NEC1|Q9NW60	Silent	SNP	pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC	p.P136	ENST00000535902.1	37	c.408	CCDS8648.1	12																																																																																			MANSC1	-	NULL	ENSG00000111261		0.423	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANSC1	HGNC	protein_coding	OTTHUMT00000400144.1	-	0	83	0	G	NM_018050		12483849	-1	tier1	-	no_errors	ENST00000535902	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.000	A	A	12483849	G	A	12483849	2	1	87	1	0	0	0	0	0	0	0	1	9262	1219	43	3		3	MANSC1	12	12483849	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	937468	12483849	121368046	1212	24336											
GRIN2B	2904	genome.wustl.edu	37	chr12	13764669	13764669	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccttacctctgccatcAgcgaggcacctgttataacc	8	9	8	16	2	2	0	1	0	1	0	2	1	2	0	6	2	4	2	6	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:13764669A>G	ENST00000609686.1	-	8	1979	c.1770T>C	c.(1768-1770)gcT>gcC	p.A590A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	590					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCTGCCATCAGCGAGGCACC	0.488																																																	0													108	106	107					12																	13764669		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1770T>C	12.37:g.13764669A>G			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A590	ENST00000609686.1	37	c.1770	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000273079		0.488	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0	50	0	A			13764669	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.915	G	G	13764669	A	G	13764669	2	3	87	1	0	0	0	0	0	0	0	1	6807	175	7	4		4	GRIN2B	12	13764669	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1280820	13764669	120087226	1213	24337											
GUCY2C	2984	genome.wustl.edu	37	chr12	14825857	14825857	+	Frame_Shift_Del	DEL	C	C	-																															caccatggtactgtcaacatCcccccagtcatccaaggtca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:14825857delC	ENST00000261170.3	-	9	1256	c.1120delG	c.(1120-1122)gatfs	p.D374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTGTCAACATCCCCCCAGTCA	0.473																																																	0													195	163	174					12																	14825857		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1120delG	12.37:g.14825857delC	ENSP00000261170:p.Asp374fs		B2RMY6	Frame_Shift_Del	DEL	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.D374fs	ENST00000261170.3	37	c.1120	CCDS8664.1	12																																																																																			GUCY2C	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000070019		0.473	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1		0	55	0	C			14825857	-1	tier1		no_errors	ENST00000261170	ensembl	human	known	74_37	frame_shift_del	25.00	39	13	DEL	0.958	-	-	14825857	C	-	14825857	7	5	87	1	0	1	0	1	0	0	0	0	6923	855	30	0	2177	0	GUCY2C	12	14825857	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1061188	14825857	119026038	1214	24338											
PYROXD1	79912	genome.wustl.edu	37	chr12	21608074	21608074	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtttttaggtatgaaaTtgaaggctgtgaagtgattt	11	17	11	2	0	0	4	0	4	0	0	0	4	0	4	0	2	0	3	0	2	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:21608074T>A	ENST00000240651.9	+	6	551	c.497T>A	c.(496-498)aTt>aAt	p.I166N	PYROXD1_ENST00000545178.1_3'UTR|PYROXD1_ENST00000538582.1_Missense_Mutation_p.I95N	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	166							oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AGGTATGAAATTGAAGGCTGT	0.338																																																	0													59	63	62					12																	21608074		2203	4300	6503	SO:0001583	missense	0			AL832441	CCDS31755.1	12p12.1	2014-02-12			ENSG00000121350	ENSG00000121350			26162	protein-coding gene	gene with protein product						12477932	Standard	NM_024854		Approved	DKFZp762G094, FLJ22028	uc001rew.3	Q8WU10	OTTHUMG00000169129	ENST00000240651.9:c.497T>A	12.37:g.21608074T>A	ENSP00000240651:p.Ile166Asn		A6NKI6|B3KWN8|Q9H6P1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase	p.I166N	ENST00000240651.9	37	c.497	CCDS31755.1	12	.	.	.	.	.	.	.	.	.	.	T	19.86	3.905017	0.72868	.	.	ENSG00000121350	ENST00000240651;ENST00000538582	.	.	.	5.32	5.32	0.75619	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.283827	0.41938	D	0.000800	T	0.76919	0.4055	M	0.71206	2.165	0.80722	D	1	D	0.56746	0.977	D	0.67382	0.951	T	0.79130	-0.1930	9	0.59425	D	0.04	.	14.773	0.69693	0.0:0.0:0.0:1.0	.	166	Q8WU10	PYRD1_HUMAN	N	166;95	.	ENSP00000240651:I166N	I	+	2	0	PYROXD1	21499341	1.000000	0.71417	0.999000	0.59377	0.766000	0.43426	6.908000	0.75730	2.137000	0.66172	0.528000	0.53228	ATT	PYROXD1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000121350		0.338	PYROXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD1	HGNC	protein_coding	OTTHUMT00000402363.1	-	0	40	0	T	NM_024854		21608074	1	tier1	-	no_errors	ENST00000240651	ensembl	human	known	74_37	missense	19.44	28	7	SNP	1.000	A	A	21608074	T	A	21608074	3	1	87	1	0	0	0	0	1	0	0	0	12911	1493	52	5	519	5	PYROXD1	12	21608074	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	6782217	21608074	112243821	1215	24339											
CASC1	55259	genome.wustl.edu	37	chr12	25308344	25308344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatttctcctttctagAtcctgttgcacaaggacaga	9	15	6	11	0	4	2	1	0	3	2	6	3	5	3	2	1	1	2	2	1	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:25308344A>T	ENST00000320267.9	-	4	264	c.183T>A	c.(181-183)gaT>gaA	p.D61E	CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000395987.3_Missense_Mutation_p.D67E|CASC1_ENST00000354189.5_Missense_Mutation_p.D125E|CASC1_ENST00000395990.2_Missense_Mutation_p.D21E|CASC1_ENST00000545133.1_Missense_Mutation_p.D2E|CASC1_ENST00000557684.1_5'UTR	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	61	Glu-rich.									breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCCTTTCTAGATCCTGTTGCA	0.338																																																	0													84	85	85					12																	25308344		2203	4297	6500	SO:0001583	missense	0			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 54"					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.183T>A	12.37:g.25308344A>T	ENSP00000313141:p.Asp61Glu		B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	pfam_Casc1_domain,prints_Casc1	p.D67E	ENST00000320267.9	37	c.201	CCDS41762.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.99|18.99	3.740135|3.740135	0.69304|0.69304	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000545133;ENST00000389246;ENST00000554347|ENST00000556006	T;T;T;T;T;T|.	0.61392|.	1.35;1.75;1.69;1.05;0.11;1.95|.	4.71|4.71	2.39|2.39	0.29439|0.29439	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61035|0.61035	0.2315|0.2315	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.69078|.	0.93;0.997;0.996;0.997|.	P;D;P;D|.	0.66084|.	0.619;0.941;0.875;0.941|.	T|T	0.55921|0.55921	-0.8064|-0.8064	10|5	0.06236|.	T|.	0.91|.	-30.7739|-30.7739	5.6125|5.6125	0.17414|0.17414	0.7766:0.0:0.2234:0.0|0.7766:0.0:0.2234:0.0	.|.	2;125;61;67|.	F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;CASC1_HUMAN;.|.	E|T	125;67;61;21;67;2;21;21|37	ENSP00000346126:D125E;ENSP00000379310:D67E;ENSP00000313141:D61E;ENSP00000379313:D21E;ENSP00000437373:D2E;ENSP00000451232:D21E|.	ENSP00000313141:D61E|.	D|S	-|-	3|1	2|0	CASC1|CASC1	25199611|25199611	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.899000|0.899000	0.52679|0.52679	2.360000|2.360000	0.44151|0.44151	0.424000|0.424000	0.26061|0.26061	0.523000|0.523000	0.50628|0.50628	GAT|TCT	CASC1	-	NULL	ENSG00000118307		0.338	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASC1	HGNC	protein_coding	OTTHUMT00000316761.1	-	0	28	0	A	NM_018272		25308344	-1	tier1	-	no_errors	ENST00000395987	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.993	T	T	25308344	A	T	25308344	3	4	87	1	0	0	0	0	1	0	0	0	2667	330	12	5	2015	5	CASC1	12	25308344	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3700270	25308344	108543551	1216	24340											
CCDC91	55297	genome.wustl.edu	37	chr12	28412316	28412316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgcggagacttttgatgGtggaagtggtgaaacccaaa	11	9	15	6	1	0	3	0	2	0	1	0	5	0	4	1	5	2	1	1	5	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:28412316G>A	ENST00000545336.1	+	6	469	c.50G>A	c.(49-51)gGt>gAt	p.G17D	CCDC91_ENST00000381259.1_Missense_Mutation_p.G17D|CCDC91_ENST00000539107.1_Missense_Mutation_p.G17D|CCDC91_ENST00000381256.1_Missense_Mutation_p.G17D			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	17					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACTTTTGATGGTGGAAGTGGT	0.388																																																	0													144	126	132					12																	28412316		2203	4300	6503	SO:0001583	missense	0			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"GGA binding partner"					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.50G>A	12.37:g.28412316G>A	ENSP00000438040:p.Gly17Asp		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	NULL	p.G17D	ENST00000545336.1	37	c.50	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808181	0.31961	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256	T;T;T;T;T;T	0.32272	1.46;1.48;1.47;1.48;1.47;1.46	5.57	1.43	0.22495	.	0.587019	0.16235	N	0.223394	T	0.14743	0.0356	N	0.19112	0.55	0.58432	D	0.999997	B	0.02656	0.0	B	0.06405	0.002	T	0.11991	-1.0565	10	0.30854	T	0.27	-2.5856	1.817	0.03102	0.2477:0.1346:0.4795:0.1383	.	17	Q7Z6B0	CCD91_HUMAN	D	17	ENSP00000440513:G17D;ENSP00000445660:G17D;ENSP00000438040:G17D;ENSP00000442544:G17D;ENSP00000370658:G17D;ENSP00000370655:G17D	ENSP00000370655:G17D	G	+	2	0	CCDC91	28303583	0.995000	0.38212	0.980000	0.43619	0.951000	0.60555	0.247000	0.18179	0.261000	0.21753	0.655000	0.94253	GGT	CCDC91	-	NULL	ENSG00000123106		0.388	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	-	0	90	0	G	NM_018318		28412316	1	tier1	-	no_errors	ENST00000381259	ensembl	human	known	74_37	missense	8.14	79	7	SNP	0.916	A	A	28412316	G	A	28412316	3	1	87	1	0	0	0	0	1	0	0	0	2877	1261	44	3	56	3	CCDC91	12	28412316	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3103972	28412316	105439579	1217	24341											
TMTC1	83857	genome.wustl.edu	37	chr12	29670503	29670503	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtgccacctgcagggCgctgagtttggagaaaatct	8	12	13	8	1	1	2	0	1	1	1	1	3	1	2	2	2	2	3	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:29670503C>T	ENST00000539277.1	-	14	2084	c.2026G>A	c.(2026-2028)Gcc>Acc	p.A676T	TMTC1_ENST00000552618.1_Splice_Site_p.A700T|TMTC1_ENST00000551659.1_Splice_Site_p.A738T|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Splice_Site_p.A568T	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	676						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACCTGCAGGGCGCTGAGTTTG	0.443																																																	0													109	102	105					12																	29670503		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2025-1G>A	12.37:g.29670503C>T			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A568T	ENST00000539277.1	37	c.1702	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.249561	0.95305	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.80393	-1.37;-1.37;-0.09;-1.37	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90699	0.4619	9	.	.	.	-15.9447	18.2616	0.90038	0.0:1.0:0.0:0.0	.	676;738;21	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	T	439;568;738;700;676	ENSP00000256062:A568T;ENSP00000448112:A738T;ENSP00000449043:A700T;ENSP00000442046:A676T	.	A	-	1	0	TMTC1	29561770	1.000000	0.71417	0.985000	0.45067	0.975000	0.68041	6.788000	0.75105	2.649000	0.89929	0.650000	0.86243	GCC	TMTC1	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000133687		0.443	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1	-	0	31	0	C	NM_031920	Missense_Mutation	29670503	-1	tier1	-	no_errors	ENST00000256062	ensembl	human	known	74_37	missense	20.00	23	6	SNP	1.000	T	T	29670503	C	T	29670503	5	4	87	1	0	0	0	0	0	0	1	0	16307	782	27	1	642	1	TMTC1	12	29670503	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1258187	29670503	104181392	1218	24342											
BICD1	636	genome.wustl.edu	37	chr12	32480649	32480649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatccttgaatgcaaataCagggtggcagtaactgaggt	13	9	13	6	0	0	3	0	2	0	1	1	4	1	3	1	3	3	3	1	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:32480649C>T	ENST00000281474.5	+	5	1363	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	BICD1_ENST00000548411.1_Silent_p.Y420Y	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	420					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AATGCAAATACAGGGTGGCAG	0.463																																																	0													60	57	58					12																	32480649		2203	4300	6503	SO:0001819	synonymous_variant	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1260C>T	12.37:g.32480649C>T			A8K2C3|F8W113|O43892|O43893	Silent	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.Y420	ENST00000281474.5	37	c.1260	CCDS8726.1	12																																																																																			BICD1	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000151746		0.463	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	-	0	30	0	C	NM_001714		32480649	1	tier1	-	no_errors	ENST00000281474	ensembl	human	known	74_37	silent	34.15	26	14	SNP	1.000	T	T	32480649	C	T	32480649	2	4	87	1	0	0	0	0	0	0	0	1	1430	489	17	3		3	BICD1	12	32480649	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2810146	32480649	101371246	1219	24343											
LRRK2	120892	genome.wustl.edu	37	chr12	40740637	40740637	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttggtttactactctaTgacattttgacaactggagg	10	16	8	7	0	2	2	1	2	1	0	2	3	2	3	0	3	3	1	0	3	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:40740637T>C	ENST00000298910.7	+	42	6250	c.6192T>C	c.(6190-6192)taT>taC	p.Y2064Y		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2064	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACTACTCTATGACATTTTGA	0.358																																																	0													94	88	90					12																	40740637		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6192T>C	12.37:g.40740637T>C			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.Y2064	ENST00000298910.7	37	c.6192	CCDS31774.1	12																																																																																			LRRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000188906		0.358	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	-	0	54	0	T	XM_058513		40740637	1	tier1	-	no_errors	ENST00000298910	ensembl	human	known	74_37	silent	8.70	63	6	SNP	1.000	C	C	40740637	T	C	40740637	2	2	87	1	0	0	0	0	0	0	0	1	9068	1471	51	4		4	LRRK2	12	40740637	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	8259988	40740637	93111258	1220	24344											
ZCRB1	85437	genome.wustl.edu	37	chr12	42707711	42707711	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaggagctttcttttttttCtttttttctttcttctttgg	2	27	5	7	0	6	0	1	0	5	0	6	1	6	1	0	2	1	1	0	2	0	11	rs141493486		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:42707711C>T	ENST00000266529.3	-	6	594	c.411G>A	c.(409-411)aaG>aaA	p.K137K	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Silent_p.K96K	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	137	Poly-Lys.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K137K(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TCTTTTTTTTCTTTTTTTCTT	0.343																																																	1	Substitution - coding silent(1)	skin(1)											62	62	62					12																	42707711		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022543	CCDS8740.1	12q12	2013-02-12				ENSG00000139168		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	29620	protein-coding gene	gene with protein product	"U11/U12 snRNP 31K"	610750				15146077, 16959469	Standard	NM_033114		Approved	MADP-1, MADP1, RBM36, ZCCHC19, SNRNP31	uc001rmz.3	Q8TBF4	OTTHUMG00000169382	ENST00000266529.3:c.411G>A	12.37:g.42707711C>T			Q6PJX0|Q96TA6	Silent	SNP	pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.K137	ENST00000266529.3	37	c.411	CCDS8740.1	12																																																																																			ZCRB1	-	NULL	ENSG00000139168		0.343	ZCRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCRB1	HGNC	protein_coding	OTTHUMT00000403813.1		0	86	0	C	NM_033114		42707711	-1			no_errors	ENST00000266529	ensembl	human	known	74_37	silent	5.56	51	3	SNP	1.000	T	T	42707711	C	T	42707711	2	4	87	1	0	0	0	0	0	0	0	1	17644	912	32	3		3	ZCRB1	12	42707711	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1967074	42707711	91144184	1221	24345											
IRAK4	51135	genome.wustl.edu	37	chr12	44180243	44180243	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaagaaaagacaatTgaagattatattgataaaaa	23	9	8	1	0	0	7	0	3	0	4	0	8	0	7	0	0	0	0	0	0	11	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:44180243T>A	ENST00000448290.2	+	11	1301	c.1230T>A	c.(1228-1230)atT>atA	p.I410I	IRAK4_ENST00000440781.2_Silent_p.I286I|IRAK4_ENST00000431837.1_Silent_p.I286I|IRAK4_ENST00000551736.1_Silent_p.I410I	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	410	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAAAGACAATTGAAGATTATA	0.279																																																	0													43	50	47					12																	44180243		2203	4291	6494	SO:0001819	synonymous_variant	0			AF155118	CCDS8744.1, CCDS44862.1	12q12	2014-09-17				ENSG00000198001			17967	protein-coding gene	gene with protein product		606883				3772297, 10508479	Standard	NM_001114182		Approved	NY-REN-64	uc001rnt.3	Q9NWZ3		ENST00000448290.2:c.1230T>A	12.37:g.44180243T>A			Q69FE1|Q8TDF7|Q9Y589	Silent	SNP	pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I410	ENST00000448290.2	37	c.1230	CCDS8744.1	12																																																																																			IRAK4	-	pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198001		0.279	IRAK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK4	HGNC	protein_coding	OTTHUMT00000403947.1	-	0	24	0	T			44180243	1	tier1	-	no_errors	ENST00000448290	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.968	A	A	44180243	T	A	44180243	2	1	87	1	0	0	0	0	0	0	0	1	7852	1800	63	5		5	IRAK4	12	44180243	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1472532	44180243	89671652	1222	24346											
COL2A1	1280	genome.wustl.edu	37	chr12	48378778	48378778	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagcaaattattacttacGttggcacctttggggccagg	11	11	11	8	1	0	1	0	0	0	1	0	1	0	1	2	4	3	3	2	4	5	5	rs545120998		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:48378778G>A	ENST00000380518.3	-	27	1997	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Splice_Site_p.N542N	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	611	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TATTACTTACGTTGGCACCTT	0.572													g|||	1	0.000199681	0	0.0014	5008	,	,		21654	0		0	False		,,,				2504	0																0													48	45	46					12																	48378778		2203	4300	6503	SO:0001630	splice_region_variant	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1833+1C>T	12.37:g.48378778G>A			A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.N611	ENST00000380518.3	37	c.1833	CCDS41778.1	12																																																																																			COL2A1	-	NULL	ENSG00000139219		0.572	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0	51	0	G	NM_001844	Silent	48378778	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	silent	10.00	27	3	SNP	1.000	A	A	48378778	G	A	48378778	5	1	87	1	0	0	0	0	0	0	1	0	3694	1159	40	1	2742	1	COL2A1	12	48378778	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4198535	48378778	85473117	1223	24347											
PFKM	5213	genome.wustl.edu	37	chr12	48528050	48528050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttagaagtaatgggccGccactgtgggtaagatcctc	9	11	13	8	1	0	2	0	0	0	2	2	2	1	2	3	2	0	3	3	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:48528050G>A	ENST00000312352.7	+	7	668	c.629G>A	c.(628-630)cGc>cAc	p.R210H	PFKM_ENST00000547587.1_Missense_Mutation_p.R210H|PFKM_ENST00000340802.6_Missense_Mutation_p.R281H|PFKM_ENST00000551804.1_Missense_Mutation_p.R210H|PFKM_ENST00000359794.5_Missense_Mutation_p.R210H|PFKM_ENST00000395233.2_Missense_Mutation_p.R210H	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	210	N-terminal catalytic PFK domain 1.|Substrate binding. {ECO:0000255|HAMAP- Rule:MF_03184}.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTAATGGGCCGCCACTGTGGG	0.507																																																	0													176	157	164					12																	48528050		2203	4300	6503	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 122"	610681	"phosphofructokinase, polypeptide X"	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.629G>A	12.37:g.48528050G>A	ENSP00000309438:p.Arg210His		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.R210H	ENST00000312352.7	37	c.629	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.267825	0.95399	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	4.54	4.54	0.55810	Phosphofructokinase domain (2);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.94803	0.7972	10	0.87932	D	0	-14.0999	17.2641	0.87081	0.0:0.0:1.0:0.0	.	210;210;281	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	281;210;210;210;210;210	ENSP00000345771:R281H;ENSP00000352842:R210H;ENSP00000378656:R210H;ENSP00000448177:R210H;ENSP00000449426:R210H;ENSP00000309438:R210H	ENSP00000309438:R210H	R	+	2	0	PFKM	46814317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	2.797000	0.96272	0.655000	0.94253	CGC	PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.507	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	-	0	65	0	G	NM_000289		48528050	1	tier1	-	no_errors	ENST00000312352	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	A	A	48528050	G	A	48528050	3	1	87	1	0	0	0	0	1	0	0	0	11804	1087	38	1	872	1	PFKM	12	48528050	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	149272	48528050	85323845	1224	24348											
WNT1	7471	genome.wustl.edu	37	chr12	49374348	49374348	+	Frame_Shift_Del	DEL	G	G	-																															cgggggccccgactggcactGggggggctgcagcgacaaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49374348delG	ENST00000293549.3	+	3	536	c.500delG	c.(499-501)tggfs	p.W167fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	167					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		gACTGGCACTGGGGGGGCTGC	0.682																																																	1	Deletion - Frameshift(1)	large_intestine(1)											9	11	11					12																	49374348		2195	4281	6476	SO:0001589	frameshift_variant	0			X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"Wingless-type MMTV integration sites", "Endogenous ligands"	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.500delG	12.37:g.49374348delG	ENSP00000293549:p.Trp167fs		Q5U0N2	Frame_Shift_Del	DEL	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1	p.G169fs	ENST00000293549.3	37	c.500	CCDS8776.1	12																																																																																			WNT1	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000125084		0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT1	HGNC	protein_coding	OTTHUMT00000408937.1		0	50	0	G			49374348	1	tier1		no_errors	ENST00000293549	ensembl	human	known	74_37	frame_shift_del	15.22	39	7	DEL	1.000	-	-	49374348	G	-	49374348	7	5	87	1	0	1	0	1	0	0	0	0	17430	1357	47	0	510	0	WNT1	12	49374348	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	846298	49374348	84477547	1225	24349											
DDN	23109	genome.wustl.edu	37	chr12	49391444	49391444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catccggtgcctccgggagcCcagggtctggggagtgtctg	4	8	17	12	2	2	0	0	0	2	0	4	2	4	2	4	5	2	0	4	5	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49391444C>A	ENST00000421952.2	-	2	1236	c.1215G>T	c.(1213-1215)tgG>tgT	p.W405C	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	405	Interaction with ACTN1.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTCCGGGAGCCCAGGGTCTGG	0.627																																																	0													31	35	34					12																	49391444		2203	4300	6503	SO:0001583	missense	0			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1215G>T	12.37:g.49391444C>A	ENSP00000390590:p.Trp405Cys			Missense_Mutation	SNP	NULL	p.W405C	ENST00000421952.2	37	c.1215	CCDS31791.2	12	.	.	.	.	.	.	.	.	.	.	c	10.55	1.380454	0.24944	.	.	ENSG00000181418	ENST00000421952	T	0.61859	0.07	3.84	2.94	0.34122	.	0.184573	0.27027	N	0.021289	T	0.42921	0.1224	L	0.27053	0.805	0.58432	D	0.999999	B	0.27498	0.18	B	0.26310	0.068	T	0.45920	-0.9228	10	0.72032	D	0.01	-13.1658	10.7587	0.46251	0.191:0.809:0.0:0.0	.	405	O94850	DEND_HUMAN	C	405	ENSP00000390590:W405C	ENSP00000390590:W405C	W	-	3	0	DDN	47677711	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	1.814000	0.38972	1.193000	0.43086	-0.318000	0.08688	TGG	DDN	-	NULL	ENSG00000181418		0.627	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDN	HGNC	protein_coding	OTTHUMT00000343335.1	-	0	265	0	C			49391444	-1	tier1	-	no_errors	ENST00000421952	ensembl	human	known	74_37	missense	14.88	183	32	SNP	1.000	A	A	49391444	C	A	49391444	3	1	87	1	0	0	0	0	1	0	0	0	4342	624	22	3	924	3	DDN	12	49391444	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	17096	49391444	84460451	1226	24350											
DDN	23109	genome.wustl.edu	37	chr12	49391699	49391699	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcaggtcagcagcagcCagccccaggcttttctccac	7	9	9	16	0	3	0	2	0	1	0	4	0	3	0	4	2	4	4	4	2	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49391699C>A	ENST00000421952.2	-	2	981	c.960G>T	c.(958-960)ctG>ctT	p.L320L	RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	320						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CAGCAGCAGCCAGCCCCAGGC	0.657																																																	0													49	58	55					12																	49391699		2200	4292	6492	SO:0001819	synonymous_variant	0			AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.960G>T	12.37:g.49391699C>A				Silent	SNP	NULL	p.L320	ENST00000421952.2	37	c.960	CCDS31791.2	12																																																																																			DDN	-	NULL	ENSG00000181418		0.657	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDN	HGNC	protein_coding	OTTHUMT00000343335.1	-	0	69	0	C			49391699	-1	tier1	-	no_errors	ENST00000421952	ensembl	human	known	74_37	silent	15.25	50	9	SNP	0.004	A	A	49391699	C	A	49391699	2	1	87	1	0	0	0	0	0	0	0	1	4342	581	21	3		3	DDN	12	49391699	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	255	49391699	84460196	1227	24351											
MLL2	8085	genome.wustl.edu	37	chr12	49425056	49425056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagcccctcggacccccGcccagtgctgagttgcacat	6	7	10	18	3	0	1	0	1	0	0	2	2	0	2	5	1	3	4	5	1	0	1	rs562043836		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49425056G>A	ENST00000301067.7	-	39	13431	c.13432C>T	c.(13432-13434)Cgg>Tgg	p.R4478W		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4478				R -> Q (in Ref. 1; AAC51734/AAC51735). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCGGACCCCCGCCCAGTGCTG	0.607													G|||	1	0.000199681	0	0	5008	,	,		19101	0		0	False		,,,				2504	0.001																0													70	76	74					12																	49425056		2037	4193	6230	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13432C>T	12.37:g.49425056G>A	ENSP00000301067:p.Arg4478Trp		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.R4478W	ENST00000301067.7	37	c.13432	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689780	0.29962	.	.	ENSG00000167548	ENST00000301067	D	0.86230	-2.09	5.57	5.57	0.84162	.	0.000000	0.35096	N	0.003457	D	0.83672	0.5305	L	0.27053	0.805	0.58432	D	0.999991	D	0.65815	0.995	P	0.45474	0.482	D	0.86269	0.1660	10	0.87932	D	0	.	18.6999	0.91617	0.0:0.0:1.0:0.0	.	4478	O14686	MLL2_HUMAN	W	4478	ENSP00000301067:R4478W	ENSP00000301067:R4478W	R	-	1	2	MLL2	47711323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.611000	0.74183	2.793000	0.96121	0.655000	0.94253	CGG	KMT2D	-	NULL	ENSG00000167548		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	42	0	G			49425056	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	A	A	49425056	G	A	49425056	3	1	87	1	0	0	0	0	1	0	0	0	9659	1086	38	1	3245	1	MLL2	12	49425056	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	33357	49425056	84426839	1228	24352											
KCNH3	23416	genome.wustl.edu	37	chr12	49943287	49943287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcgcatgtacgcccgccGctttctgtaccacagccgca	7	7	9	18	5	1	0	0	0	1	0	1	0	1	0	5	0	4	5	5	0	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:49943287G>A	ENST00000257981.6	+	9	1792	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	511					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TACGCCCGCCGCTTTCTGTAC	0.652																																																	0													78	70	73					12																	49943287		2203	4300	6503	SO:0001583	missense	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1532G>A	12.37:g.49943287G>A	ENSP00000257981:p.Arg511His		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R511H	ENST00000257981.6	37	c.1532	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.605488	0.96626	.	.	ENSG00000135519	ENST00000257981	D	0.96830	-4.14	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.49305	D	0.000155	D	0.98223	0.9412	M	0.90542	3.125	0.54753	D	0.999984	D	0.89917	1.0	D	0.67231	0.95	D	0.98476	1.0603	10	0.56958	D	0.05	.	15.9387	0.79736	0.0:0.0:1.0:0.0	.	511	Q9ULD8	KCNH3_HUMAN	H	511	ENSP00000257981:R511H	ENSP00000257981:R511H	R	+	2	0	KCNH3	48229554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.817000	0.86213	2.719000	0.93026	0.655000	0.94253	CGC	KCNH3	-	superfamily_cNMP-bd-like	ENSG00000135519		0.652	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	-	0	53	0	G	NM_012284		49943287	1	tier1	-	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	A	A	49943287	G	A	49943287	3	1	87	1	0	0	0	0	1	0	0	0	8060	1087	38	1	1566	1	KCNH3	12	49943287	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	518231	49943287	83908608	1229	24353											
PRPF40B	25766	genome.wustl.edu	37	chr12	50026386	50026386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcggcagacggctcCgggtgcggacaccgccagct	5	8	13	15	5	1	1	0	0	1	1	3	2	2	2	3	4	2	3	3	4	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:50026386C>T	ENST00000380281.1	+	4	300	c.236C>T	c.(235-237)cCg>cTg	p.P79L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.P101L|PRPF40B_ENST00000261897.1_Missense_Mutation_p.P73L			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	79					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.P79L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAGACGGCTCCGGGTGCGGAC	0.697																																																	1	Substitution - Missense(1)	large_intestine(1)											58	66	63					12																	50026386		2203	4299	6502	SO:0001583	missense	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"Huntingtin interacting protein C"		"PRP40 pre-mRNA processing factor 40 homolog B (yeast)"			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.236C>T	12.37:g.50026386C>T	ENSP00000369634:p.Pro79Leu		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.P101L	ENST00000380281.1	37	c.302		12	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374969	0.42105	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.30981	1.54;1.54;1.51	4.99	4.99	0.66335	.	0.216556	0.32231	N	0.006392	T	0.46112	0.1376	L	0.39898	1.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79108	0.982;0.992;0.992	T	0.14643	-1.0465	9	.	.	.	-20.8841	16.156	0.81666	0.0:1.0:0.0:0.0	.	79;73;79	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	L	101;73;79	ENSP00000448073:P101L;ENSP00000261897:P73L;ENSP00000369634:P79L	.	P	+	2	0	PRPF40B	48312653	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.479000	0.45197	2.764000	0.94973	0.561000	0.74099	CCG	PRPF40B	-	NULL	ENSG00000110844		0.697	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	-	0	69	0	C	NM_012272		50026386	1	tier1	-	no_errors	ENST00000548825	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	50026386	C	T	50026386	3	4	87	1	0	0	0	0	1	0	0	0	12614	652	23	1	250	1	PRPF40B	12	50026386	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	83099	50026386	83825509	1230	24354											
LIMA1	51474	genome.wustl.edu	37	chr12	50594561	50594561	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagacttttcaacctaccTtttccccttcctgatgggtg	7	15	6	13	0	2	2	2	1	0	1	4	2	4	2	5	1	2	0	5	1	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:50594561T>C	ENST00000341247.4	-	7	1120	c.971A>G	c.(970-972)aAg>aGg	p.K324R	LIMA1_ENST00000547825.1_Splice_Site_p.K22R|LIMA1_ENST00000552491.1_Splice_Site_p.K22R|LIMA1_ENST00000552783.1_Splice_Site_p.K164R|LIMA1_ENST00000394943.3_Splice_Site_p.K324R|LIMA1_ENST00000552823.1_Splice_Site_p.K164R|LIMA1_ENST00000552909.1_Splice_Site_p.K164R|LIMA1_ENST00000552008.1_5'UTR	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	324					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCAACCTACCTTTTCCCCTTC	0.443																																																	0													308	303	304					12																	50594561		2203	4300	6503	SO:0001630	splice_region_variant	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.972+1A>G	12.37:g.50594561T>C			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K324R	ENST00000341247.4	37	c.971	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	T	13.78	2.340411	0.41498	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;D;D;T;D;D	0.85088	-1.2;-1.2;-1.54;-1.94;-1.21;-1.52;-1.53	5.64	4.5	0.54988	.	0.142113	0.48286	D	0.000183	D	0.90293	0.6964	M	0.71581	2.175	0.41306	D	0.987071	D;D;B	0.76494	0.968;0.999;0.012	P;D;B	0.80764	0.721;0.994;0.03	D	0.90212	0.4265	10	0.66056	D	0.02	.	9.422	0.38557	0.0:0.0807:0.0:0.9193	.	333;324;164	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	R	22;22;164;324;324;164;164;243	ENSP00000448463:K22R;ENSP00000448706:K22R;ENSP00000450266:K164R;ENSP00000378400:K324R;ENSP00000340184:K324R;ENSP00000448779:K164R;ENSP00000450087:K164R	ENSP00000340184:K324R	K	-	2	0	LIMA1	48880828	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	4.348000	0.59379	1.153000	0.42468	-0.263000	0.10527	AAG	LIMA1	-	NULL	ENSG00000050405		0.443	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	-	0	83	0	T	NM_016357	Missense_Mutation	50594561	-1	tier1	-	no_errors	ENST00000394943	ensembl	human	known	74_37	missense	16.18	56	11	SNP	1.000	C	C	50594561	T	C	50594561	5	2	87	1	0	0	0	0	0	0	1	0	8825	1623	56	4	1331	4	LIMA1	12	50594561	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	568175	50594561	83257334	1231	24355											
TMPRSS12	283471	genome.wustl.edu	37	chr12	51252715	51252715	+	Frame_Shift_Del	DEL	A	A	-																															gatattgcactttttcacttAaaaaaagcagtgaggtataa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:51252715delA	ENST00000398458.3	+	3	563	c.531delA	c.(529-531)ttafs	p.L177fs	TMPRSS12_ENST00000551456.1_Frame_Shift_Del_p.L177fs	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTTTTCACTTAAAAAAAGCAG	0.323																																																	0													39	36	37					12																	51252715		1810	4071	5881	SO:0001589	frameshift_variant	0			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"Serine peptidases / Transmembrane"	28779	protein-coding gene	gene with protein product			"transmembrane protease, serine 12"				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.531delA	12.37:g.51252715delA	ENSP00000381476:p.Leu177fs		B9ZVX2	Frame_Shift_Del	DEL	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A180fs	ENST00000398458.3	37	c.531	CCDS44881.1	12																																																																																			TMPRSS12	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000186452		0.323	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS12	HGNC	protein_coding	OTTHUMT00000404289.1		0	65	0	A	NM_182559		51252715	1	tier1		no_errors	ENST00000398458	ensembl	human	known	74_37	frame_shift_del	29.58	50	21	DEL	1.000	-	-	51252715	A	-	51252715	7	5	87	1	0	1	0	1	0	0	0	0	16291	359	13	0	541	0	TMPRSS12	12	51252715	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	658154	51252715	82599180	1232	24356											
DAZAP2	9802	genome.wustl.edu	37	chr12	51634238	51634238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccgatgctccacctgcctActcagaggtgcttccagttt	7	12	8	14	1	1	1	1	0	0	1	3	2	3	1	5	1	5	3	5	1	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:51634238A>G	ENST00000412716.3	+	2	741	c.125A>G	c.(124-126)tAc>tGc	p.Y42C	DAZAP2_ENST00000604900.1_Missense_Mutation_p.Y42C|DAZAP2_ENST00000551313.1_5'UTR|DAZAP2_ENST00000425012.2_Missense_Mutation_p.Y42C|DAZAP2_ENST00000549732.2_Missense_Mutation_p.Y42C|DAZAP2_ENST00000439799.2_Missense_Mutation_p.Y42C|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000449723.3_Missense_Mutation_p.Y42C|DAZAP2_ENST00000549555.1_Missense_Mutation_p.Y42C			Q15038	DAZP2_HUMAN	DAZ associated protein 2	42	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CCACCTGCCTACTCAGAGGTG	0.493																																																	0													101	94	96					12																	51634238		2203	4300	6503	SO:0001583	missense	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.125A>G	12.37:g.51634238A>G	ENSP00000394699:p.Tyr42Cys		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	pfam_DAZ_assoc-2	p.Y42C	ENST00000412716.3	37	c.125	CCDS8809.1	12	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919250	0.73098	.	.	ENSG00000183283	ENST00000412716;ENST00000549555;ENST00000439799;ENST00000425012;ENST00000549732;ENST00000449723	T;T;T;T;T;T	0.50548	0.82;0.82;1.0;0.82;0.74;0.76	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.999	D;D;D;D;D	0.87578	0.998;0.98;0.997;0.98;0.97	T	0.66452	-0.5920	10	0.72032	D	0.01	-5.4365	14.0896	0.64980	1.0:0.0:0.0:0.0	.	42;42;42;42;42	B4DDT5;C9JP84;F8VU62;C9JA96;Q15038	.;.;.;.;DAZP2_HUMAN	C	42	ENSP00000394699:Y42C;ENSP00000448051:Y42C;ENSP00000398804:Y42C;ENSP00000408251:Y42C;ENSP00000446554:Y42C;ENSP00000412812:Y42C	ENSP00000394699:Y42C	Y	+	2	0	DAZAP2	49920505	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.389000	0.79806	2.231000	0.72958	0.459000	0.35465	TAC	DAZAP2	-	pfam_DAZ_assoc-2	ENSG00000183283		0.493	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	HGNC	protein_coding	OTTHUMT00000405259.2	-	0	58	0	A	NM_014764		51634238	1	tier1	-	no_errors	ENST00000549555	ensembl	human	known	74_37	missense	16.67	54	11	SNP	1.000	G	G	51634238	A	G	51634238	3	3	87	1	0	0	0	0	1	0	0	0	4254	391	14	4	131	4	DAZAP2	12	51634238	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	381523	51634238	82217657	1233	24357											
SLC4A8	9498	genome.wustl.edu	37	chr12	51868866	51868866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagagttcatgggatctgCgtgcggccatcatggaccct	7	10	14	10	2	3	1	2	0	1	1	3	4	3	3	2	4	2	1	2	4	0	1	rs376308798		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:51868866C>T	ENST00000453097.2	+	16	2265	c.2048C>T	c.(2047-2049)gCg>gTg	p.A683V	SLC4A8_ENST00000514353.3_Missense_Mutation_p.A630V|SLC4A8_ENST00000394856.1_Missense_Mutation_p.A630V|SLC4A8_ENST00000358657.3_Missense_Mutation_p.A710V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		ATGGGATCTGCGTGCGGCCAT	0.463																																																	0								C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	230	194	206		2048,2048	4.4	0.8	12		206	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC4A8	NM_001039960.1,NM_004858.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	683/1094,683/1045	51868866	1,13005	2203	4300	6503	SO:0001583	missense	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"Solute carriers"	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2048C>T	12.37:g.51868866C>T	ENSP00000405812:p.Ala683Val			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.A683V	ENST00000453097.2	37	c.2048	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216594	0.79352	0.0	1.16E-4	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000394856;ENST00000319957;ENST00000514353;ENST00000551071	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	5.32	4.44	0.53790	Bicarbonate transporter, C-terminal (1);	0.100198	0.64402	D	0.000002	D	0.87517	0.6197	M	0.82132	2.575	0.80722	D	1	B;P;D;D	0.89917	0.075;0.533;1.0;0.998	B;B;D;D	0.75484	0.02;0.146;0.986;0.947	D	0.88685	0.3205	10	0.59425	D	0.04	.	13.5181	0.61551	0.0:0.9229:0.0:0.0771	.	630;710;683;683	E7EML0;Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;.;S4A8_HUMAN;.	V	710;683;630;683;630;630	ENSP00000351483:A710V;ENSP00000405812:A683V;ENSP00000378325:A630V;ENSP00000442561:A630V	ENSP00000315789:A683V	A	+	2	0	SLC4A8	50155133	1.000000	0.71417	0.807000	0.32361	0.550000	0.35303	6.087000	0.71362	1.408000	0.46895	0.563000	0.77884	GCG	SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.463	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	-	0	53	0	C	NM_004858		51868866	1	tier1	-	no_errors	ENST00000453097	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.999	T	T	51868866	C	T	51868866	3	4	87	1	0	0	0	0	1	0	0	0	14704	768	27	1	2110	1	SLC4A8	12	51868866	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	234628	51868866	81983029	1234	24358											
KRT84	3890	genome.wustl.edu	37	chr12	52771912	52771913	+	Frame_Shift_Ins	INS	-	-	G																															gaagcccccctgggtgggcaINSgggggcaggggacgctgggg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:52771912_52771913insG	ENST00000257951.3	-	9	1774_1775	c.1708_1709insC	c.(1708-1710)ctgfs	p.L570fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	570	Tail.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGGTGGGCAGGGGGCAGGGG	0.703																																																	0																																										SO:0001589	frameshift_variant	0			Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"-", "Intermediate filaments type II, keratins (basic)"	6461	protein-coding gene	gene with protein product	"hard keratin type II 4"	602766	"keratin, hair, basic, 4"	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1709dupC	12.37:g.52771917_52771917dupG	ENSP00000257951:p.Leu570fs		B2RA43|Q6ISB0|Q701L6	Frame_Shift_Ins	INS	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.L570fs	ENST00000257951.3	37	c.1709_1708	CCDS8825.1	12																																																																																			KRT84	-	NULL	ENSG00000161849		0.703	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT84	HGNC	protein_coding	OTTHUMT00000405187.1		0	59	0	-	NM_033045		52771913	-1	tier1		no_errors	ENST00000257951	ensembl	human	known	74_37	frame_shift_ins	16.28	36	7	INS	0.994:0.994	G	G	52771913	-	G	52771912	7	5	87	1	0	1	1	0	0	0	0	0	8525	188	7	0	97	0	KRT84	12	52771912	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	903046	52771912	81079983	1235	24359											
KRT6A	3853	genome.wustl.edu	37	chr12	52885367	52885367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgagtccaggcggccccGttccccgacaatgctgtcca	6	8	10	17	3	1	1	0	1	1	0	4	2	4	1	6	2	1	2	6	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:52885367G>A	ENST00000330722.6	-	2	762	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	232	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCGGCCCCGTTCCCCGACA	0.567																																																	0													114	111	112					12																	52885367		2203	4300	6503	SO:0001583	missense	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.694C>T	12.37:g.52885367G>A	ENSP00000369317:p.Arg232Trp		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R232W	ENST00000330722.6	37	c.694	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	g	12.58	1.982082	0.34942	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.90676	-2.71	5.26	1.25	0.21368	Filament (1);	0.307385	0.27126	N	0.020819	D	0.96537	0.8870	H	0.96430	3.82	0.18873	N	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.91656	0.5338	10	0.87932	D	0	.	15.1925	0.73057	0.0:0.0:0.5074:0.4926	.	232	P02538	K2C6A_HUMAN	W	232;188	ENSP00000369317:R232W	ENSP00000369317:R232W	R	-	1	2	KRT6A	51171634	0.937000	0.31787	0.013000	0.15412	0.026000	0.11368	2.161000	0.42358	0.379000	0.24794	-0.397000	0.06425	CGG	KRT6A	-	pfam_IF	ENSG00000205420		0.567	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0	118	0	G	NM_005554		52885367	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	23.60	68	21	SNP	0.221	A	A	52885367	G	A	52885367	3	1	87	1	0	0	0	0	1	0	0	0	8507	1144	40	1	1032	1	KRT6A	12	52885367	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	113455	52885367	80966528	1236	24360											
KRT72	140807	genome.wustl.edu	37	chr12	52985384	52985384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggacgatggacgtgtcgCtgatgtgggactggatctga	9	9	16	7	3	1	2	0	2	1	0	2	7	1	6	0	4	0	1	0	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:52985384C>T	ENST00000537672.2	-	5	837	c.827G>A	c.(826-828)aGc>aAc	p.S276N	KRT72_ENST00000354310.4_Missense_Mutation_p.S276N|KRT72_ENST00000293745.2_Missense_Mutation_p.S276N|KRT72_ENST00000398066.3_Missense_Mutation_p.S88N	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	276	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGACGTGTCGCTGATGTGGGA	0.572																																																	0													153	129	137					12																	52985384		2203	4300	6503	SO:0001583	missense	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"-", "Intermediate filaments type II, keratins (basic)"	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.827G>A	12.37:g.52985384C>T	ENSP00000441160:p.Ser276Asn		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S276N	ENST00000537672.2	37	c.827	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129597	0.56721	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	4.33	4.33	0.51752	Filament (1);	0.000000	0.64402	D	0.000007	D	0.94212	0.8142	M	0.89968	3.075	0.25260	N	0.98961	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	D	0.87313	0.2313	10	0.72032	D	0.01	.	8.5963	0.33718	0.0:0.6437:0.2733:0.083	.	276;276	B4DEI8;Q14CN4	.;K2C72_HUMAN	N	276;276;276;88	ENSP00000441160:S276N;ENSP00000293745:S276N;ENSP00000346269:S276N;ENSP00000446151:S88N	ENSP00000293745:S276N	S	-	2	0	KRT72	51271651	0.951000	0.32395	0.995000	0.50966	0.601000	0.36947	1.900000	0.39828	2.715000	0.92844	0.655000	0.94253	AGC	KRT72	-	pfam_IF,superfamily_Prefoldin	ENSG00000170486		0.572	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	-	0	82	0	C	NM_080747		52985384	-1	tier1	-	no_errors	ENST00000293745	ensembl	human	known	74_37	missense	12.50	70	10	SNP	0.963	T	T	52985384	C	T	52985384	3	4	87	1	0	0	0	0	1	0	0	0	8512	797	28	3	728	3	KRT72	12	52985384	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	100017	52985384	80866511	1237	24361											
KRT1	3848	genome.wustl.edu	37	chr12	53069218	53069218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccacctccagagccatagCtgccacctccggagccgtag	8	5	10	18	3	0	1	0	0	0	1	2	2	2	2	8	1	4	2	8	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:53069218C>T	ENST00000252244.3	-	9	1752	c.1694G>A	c.(1693-1695)aGc>aAc	p.S565N		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	565	Gly/Ser-rich.|Tail.		Missing (in allele 1B). {ECO:0000269|PubMed:1281859}.		complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						agagccatagctgccacctcc	0.706																																																	0													4	5	5					12																	53069218		1794	3638	5432	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1694G>A	12.37:g.53069218C>T	ENSP00000252244:p.Ser565Asn		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S565N	ENST00000252244.3	37	c.1694	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	c	10.54	1.379431	0.24944	.	.	ENSG00000167768	ENST00000252244	D	0.84370	-1.84	0.736	0.736	0.18307	.	.	.	.	.	T	0.68476	0.3005	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.35899	0.213	T	0.58509	-0.7624	9	0.23891	T	0.37	.	4.9298	0.13912	0.0:1.0:0.0:0.0	.	565	P04264	K2C1_HUMAN	N	565	ENSP00000252244:S565N	ENSP00000252244:S565N	S	-	2	0	KRT1	51355485	0.000000	0.05858	0.064000	0.19789	0.307000	0.27823	0.271000	0.18626	0.721000	0.32231	0.435000	0.28638	AGC	KRT1	-	NULL	ENSG00000167768		0.706	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	-	0	91	0	C	NM_006121		53069218	-1	tier1	-	no_errors	ENST00000252244	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.293	T	T	53069218	C	T	53069218	3	4	87	1	0	0	0	0	1	0	0	0	8474	797	28	3	244	3	KRT1	12	53069218	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	83834	53069218	80782677	1238	24362											
CALCOCO1	57658	genome.wustl.edu	37	chr12	54107679	54107679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagtctgtcagagctgccgGgcagcctgtaggagatgaag	9	8	16	8	1	2	4	1	2	1	2	2	5	2	4	2	2	3	3	2	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54107679G>A	ENST00000550804.1	-	13	1657	c.1597C>T	c.(1597-1599)Ccg>Tcg	p.P533S	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.P533S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.P448S|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.P533S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	533	C-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGAGCTGCCGGGCAGCCTGTA	0.552																																																	0													40	43	42					12																	54107679		2203	4298	6501	SO:0001583	missense	0			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"coiled-coil leucine zipper coactivator 1", "inorganic pyrophosphatase activator"					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1597C>T	12.37:g.54107679G>A	ENSP00000449960:p.Pro533Ser		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.P533S	ENST00000550804.1	37	c.1597	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	g	14.17	2.455833	0.43634	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	3.89	3.89	0.44902	.	0.000000	0.35207	N	0.003365	T	0.07773	0.0195	N	0.22421	0.69	0.38730	D	0.953656	B;B;B;B;B;P	0.38300	0.245;0.112;0.206;0.245;0.136;0.626	B;B;B;B;B;B	0.42625	0.142;0.032;0.124;0.142;0.055;0.393	T	0.46275	-0.9203	10	0.21540	T	0.41	-12.8795	13.2614	0.60106	0.0:0.0:1.0:0.0	.	448;533;533;448;533;210	E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2;E9PGB0	.;.;.;.;CACO1_HUMAN;.	S	210;448;533;471;533;533	ENSP00000397189:P448S;ENSP00000262059:P533S;ENSP00000447647:P533S;ENSP00000449960:P533S	ENSP00000262059:P533S	P	-	1	0	CALCOCO1	52393946	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	3.038000	0.49783	2.177000	0.69029	0.457000	0.33378	CCG	CALCOCO1	-	pfam_CoCoA	ENSG00000012822		0.552	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	-	0	52	0	G	NM_020898		54107679	-1	tier1	-	no_errors	ENST00000550804	ensembl	human	known	74_37	missense	48.28	15	14	SNP	1.000	A	A	54107679	G	A	54107679	3	1	87	1	0	0	0	0	1	0	0	0	2584	1232	43	3	490	3	CALCOCO1	12	54107679	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1038461	54107679	79744216	1239	24363											
HOXC9	3225	genome.wustl.edu	37	chr12	54394172	54394172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttcagcacgtcgtgggCgcccgtgccctctcagtcgt	4	10	13	14	5	2	0	2	0	1	0	5	0	2	0	2	1	2	2	2	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54394172C>T	ENST00000303450.4	+	1	270	c.200C>T	c.(199-201)gCg>gTg	p.A67V	HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000508190.1_Missense_Mutation_p.A67V|HOXC-AS1_ENST00000512427.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000504557.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	67					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACGTCGTGGGCGCCCGTGCCC	0.682																																																	0													35	34	35					12																	54394172		2202	4297	6499	SO:0001583	missense	0				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"Homeoboxes / ANTP class : HOXL subclass"	5130	protein-coding gene	gene with protein product		142971	"homeo box C9"	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.200C>T	12.37:g.54394172C>T	ENSP00000302836:p.Ala67Val		B2RCN7|Q9H1I0	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.A67V	ENST00000303450.4	37	c.200	CCDS8869.1	12	.	.	.	.	.	.	.	.	.	.	C	17.37	3.371944	0.61624	.	.	ENSG00000180806	ENST00000508190;ENST00000303450	D;D	0.93547	-3.24;-3.24	4.04	4.04	0.47022	Hox9, N-terminal activation domain (1);	0.077242	0.53938	D	0.000051	D	0.91556	0.7333	M	0.68593	2.085	0.58432	D	0.999991	B	0.32425	0.371	B	0.33568	0.166	D	0.91751	0.5412	10	0.72032	D	0.01	.	11.5268	0.50584	0.0:0.8179:0.1821:0.0	.	67	P31274	HXC9_HUMAN	V	67	ENSP00000423861:A67V;ENSP00000302836:A67V	ENSP00000302836:A67V	A	+	2	0	HOXC9	52680439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.668000	0.54554	2.268000	0.75426	0.561000	0.74099	GCG	HOXC9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9	ENSG00000180806		0.682	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	-	0	55	0	C			54394172	1	tier1	-	no_errors	ENST00000303450	ensembl	human	known	74_37	missense	15.91	37	7	SNP	1.000	T	T	54394172	C	T	54394172	3	4	87	1	0	0	0	0	1	0	0	0	7344	768	27	1	202	1	HOXC9	12	54394172	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	286493	54394172	79457723	1240	24364											
SMUG1	23583	genome.wustl.edu	37	chr12	54576259	54576259	+	Frame_Shift_Del	DEL	A	A	-																															gctgtccacagaggttccggAaaaagccccagaatcgggca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54576259delA	ENST00000508394.2	-	3	496	c.434delT	c.(433-435)ttcfs	p.F145fs	SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Frame_Shift_Del_p.F145fs|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Frame_Shift_Del_p.F145fs|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514685.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	145				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						GAGGTTCCGGAAAAAGCCCCA	0.572								Base excision repair (BER), DNA glycosylases																																									0													81	81	81					12																	54576259		2203	4300	6503	SO:0001589	frameshift_variant	0			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.434delT	12.37:g.54576259delA	ENSP00000424191:p.Phe145fs		A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Frame_Shift_Del	DEL	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	p.F145fs	ENST00000508394.2	37	c.434	CCDS8874.1	12																																																																																			SMUG1	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	ENSG00000123415		0.572	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMUG1	HGNC	protein_coding	OTTHUMT00000359074.3		0	33	0	A	NM_014311		54576259	-1	tier1		no_errors	ENST00000337581	ensembl	human	known	74_37	frame_shift_del	11.11	32	4	DEL	1.000	-	-	54576259	A	-	54576259	7	5	87	1	0	1	0	1	0	0	0	0	14863	246	9	0	382	0	SMUG1	12	54576259	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	182087	54576259	79275636	1241	24365											
NCKAP1L	3071	genome.wustl.edu	37	chr12	54910702	54910702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtttcattgtcaacggCggcaatttctgcggatggca	8	11	12	10	3	3	0	2	0	1	0	3	1	3	1	1	4	2	3	1	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:54910702C>T	ENST00000293373.6	+	11	1100	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	NCKAP1L_ENST00000552211.1_3'UTR|NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R291W	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	341					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTGTCAACGGCGGCAATTTCT	0.517																																																	0													117	112	114					12																	54910702		2203	4300	6503	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"hematopoietic protein 1"	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1021C>T	12.37:g.54910702C>T	ENSP00000293373:p.Arg341Trp		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.R341W	ENST00000293373.6	37	c.1021	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866258	0.71949	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57752	0.38;0.38	5.19	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.81497	2.545	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	T	0.77091	-0.2716	10	0.87932	D	0	-13.8813	13.3543	0.60619	0.1585:0.8415:0.0:0.0	.	341	P55160	NCKPL_HUMAN	W	341;291	ENSP00000293373:R341W;ENSP00000445596:R291W	ENSP00000293373:R341W	R	+	1	2	NCKAP1L	53196969	0.997000	0.39634	0.988000	0.46212	0.957000	0.61999	1.363000	0.34159	1.289000	0.44618	0.591000	0.81541	CGG	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.517	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	-	0	92	0	C	NM_005337		54910702	1	tier1	-	no_errors	ENST00000293373	ensembl	human	known	74_37	missense	36.08	62	35	SNP	0.998	T	T	54910702	C	T	54910702	3	4	87	1	0	0	0	0	1	0	0	0	10261	759	27	1	1063	1	NCKAP1L	12	54910702	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	334443	54910702	78941193	1242	24366											
OR6C75	390323	genome.wustl.edu	37	chr12	55759191	55759192	+	Frame_Shift_Ins	INS	-	-	TT																															atgggtgtgtggctcagctaINSttttttttcatcttcttggg																								rs398102300|rs75456529	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:55759191_55759192insTT	ENST00000343399.3	+	1	297_298	c.297_298insTT	c.(298-300)tttfs	p.F100fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGGCTCAGCTATTTTTTTTCAT	0.436																																																	0																																										SO:0001589	frameshift_variant	0				CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"GPCR / Class A : Olfactory receptors"	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.304_305dupTT	12.37:g.55759198_55759199dupTT	ENSP00000368987:p.Phe100fs			Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I102fs	ENST00000343399.3	37	c.297_298	CCDS31820.1	12																																																																																			OR6C75	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187857		0.436	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C75	HGNC	protein_coding	OTTHUMT00000406418.1		0	33	0	-			55759192	1	tier1		no_errors	ENST00000343399	ensembl	human	known	74_37	frame_shift_ins	12.20	36	5	INS	0.002:0.964	TT	TT	55759192	-	TT	55759191	7	5	87	1	0	1	1	0	0	0	0	0	11238	436	16	0	299	0	OR6C75	12	55759191	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	848489	55759191	78092704	1243	24367											
NACA	4666	genome.wustl.edu	37	chr12	57110462	57110462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggatggaggagtcacagCtggaggagtaggtgcctctt	8	8	19	6	0	2	0	1	0	1	0	2	5	2	5	1	7	2	2	1	7	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:57110462C>T	ENST00000454682.1	-	3	5133	c.4852G>A	c.(4852-4854)Gct>Act	p.A1618T	NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1618	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGTCACAGCTGGAGGAGTA	0.592			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													20	20	20					12																	57110462		1568	3578	5146	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"nascent-polypeptide-associated complex alpha polypeptide"			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4852G>A	12.37:g.57110462C>T	ENSP00000403817:p.Ala1618Thr			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom	p.A1618T	ENST00000454682.1	37	c.4852		12	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996076	0.19043	.	.	ENSG00000196531	ENST00000454682	T	0.55052	0.54	3.37	-1.94	0.07571	.	.	.	.	.	T	0.31638	0.0803	.	.	.	0.09310	N	1	B	0.26081	0.141	B	0.18263	0.021	T	0.16070	-1.0415	7	.	.	.	.	8.2837	0.31915	0.0:0.4293:0.472:0.0987	.	1618	E9PAV3	.	T	1618	ENSP00000403817:A1618T	.	A	-	1	0	NACA	55396729	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.569000	0.02142	-0.430000	0.07318	0.305000	0.20034	GCT	NACA	-	NULL	ENSG00000196531		0.592	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		-	0	62	0	C	NM_005594		57110462	-1	tier1	-	no_errors	ENST00000454682	ensembl	human	known	74_37	missense	20.69	69	18	SNP	0.001	T	T	57110462	C	T	57110462	3	4	87	1	0	0	0	0	1	0	0	0	10171	797	28	3	1412	3	NACA	12	57110462	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1351271	57110462	76741433	1244	24368											
NAB2	4665	genome.wustl.edu	37	chr12	57485734	57485734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacagcatcatctatggcCgtttcgactctaagcggcgg	10	10	10	11	4	3	0	1	0	2	0	4	1	3	0	1	3	3	2	1	3	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:57485734C>T	ENST00000300131.3	+	2	1288	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	NAB2_ENST00000357680.4_Missense_Mutation_p.R304C|NAB2_ENST00000342556.6_Missense_Mutation_p.R304C	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	304	NCD2.				cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CATCTATGGCCGTTTCGACTC	0.557																																																	0													75	75	75					12																	57485734		2203	4300	6503	SO:0001583	missense	0			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.910C>T	12.37:g.57485734C>T	ENSP00000300131:p.Arg304Cys		B2RAK3|O76006|Q14797	Missense_Mutation	SNP	pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed	p.R304C	ENST00000300131.3	37	c.910	CCDS8930.1	12	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940410	0.73557	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	5.16	4.25	0.50352	NAB co-repressor, domain (1);	0.000000	0.64402	D	0.000001	T	0.74550	0.3731	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76705	-0.2861	9	0.87932	D	0	-11.0784	12.6514	0.56764	0.1669:0.8331:0.0:0.0	.	304	Q15742	NAB2_HUMAN	C	304	.	ENSP00000300131:R304C	R	+	1	0	NAB2	55772001	0.991000	0.36638	1.000000	0.80357	0.737000	0.42083	1.367000	0.34204	1.131000	0.42111	0.561000	0.74099	CGT	NAB2	-	pfam_NAB_co-repressor_dom	ENSG00000166886		0.557	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAB2	HGNC	protein_coding	OTTHUMT00000412222.1	-	0	48	0	C	NM_005967		57485734	1	tier1	-	no_errors	ENST00000300131	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	T	T	57485734	C	T	57485734	3	4	87	1	0	0	0	0	1	0	0	0	10170	652	23	1	916	1	NAB2	12	57485734	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	375272	57485734	76366161	1245	24369											
LRP1	4035	genome.wustl.edu	37	chr12	57602955	57602955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccggctcaatggcacggacCccattgtggctgctgacagc	7	8	12	14	2	1	1	1	1	0	0	2	2	2	2	3	4	2	4	3	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:57602955C>T	ENST00000243077.3	+	79	12701	c.12235C>T	c.(12235-12237)Ccc>Tcc	p.P4079S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4079					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGGCACGGACCCCATTGTGGC	0.612																																																	0													56	49	51					12																	57602955		2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12235C>T	12.37:g.57602955C>T	ENSP00000243077:p.Pro4079Ser		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P4079S	ENST00000243077.3	37	c.12235	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128202	0.21041	.	.	ENSG00000123384	ENST00000243077	D	0.96073	-3.9	4.94	4.94	0.65067	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.172815	0.35585	N	0.003115	D	0.90154	0.6923	N	0.04508	-0.205	0.80722	D	1	P	0.43578	0.811	B	0.43838	0.433	D	0.91721	0.5389	10	0.48119	T	0.1	.	17.0928	0.86627	0.0:1.0:0.0:0.0	.	4079	Q07954	LRP1_HUMAN	S	4079	ENSP00000243077:P4079S	ENSP00000243077:P4079S	P	+	1	0	LRP1	55889222	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.657000	0.54474	2.584000	0.87258	0.462000	0.41574	CCC	LRP1	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000123384		0.612	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0	59	0	C	NM_002332		57602955	1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	T	T	57602955	C	T	57602955	3	4	87	1	0	0	0	0	1	0	0	0	8986	623	22	3	12549	3	LRP1	12	57602955	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	117221	57602955	76248940	1246	24370											
PPM1H	57460	genome.wustl.edu	37	chr12	63195670	63195670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctcggtaaagaagcGtgtggggggcgtgctggggg	5	10	19	7	3	2	1	0	0	2	1	3	1	2	1	0	6	2	2	0	6	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:63195670G>A	ENST00000228705.6	-	3	982	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	228	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GTAAAGAAGCGTGTGGGGGGC	0.642																																																	0													28	32	31					12																	63195670		1896	4091	5987	SO:0001583	missense	0			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.682C>T	12.37:g.63195670G>A	ENSP00000228705:p.Arg228Cys		B1Q2A9|B2RXG4|Q6PI86	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.R228C	ENST00000228705.6	37	c.682	CCDS44934.1	12	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084870	0.55861	.	.	ENSG00000111110	ENST00000228705	T	0.25912	1.77	4.36	4.36	0.52297	Protein phosphatase 2C-like (3);	0.000000	0.85682	D	0.000000	T	0.25644	0.0624	L	0.46157	1.445	0.80722	D	1	B	0.25312	0.123	B	0.26969	0.075	T	0.05162	-1.0902	9	.	.	.	4.0024	17.2574	0.87061	0.0:0.0:1.0:0.0	.	228	Q9ULR3	PPM1H_HUMAN	C	228	ENSP00000228705:R228C	.	R	-	1	0	PPM1H	61481937	1.000000	0.71417	0.997000	0.53966	0.726000	0.41606	8.909000	0.92647	2.124000	0.65301	0.462000	0.41574	CGC	PPM1H	-	superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000111110		0.642	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	HGNC	protein_coding	OTTHUMT00000406760.2	-	0	41	0	G	NM_020700		63195670	-1	tier1	-	no_errors	ENST00000228705	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	A	A	63195670	G	A	63195670	3	1	87	1	0	0	0	0	1	0	0	0	12383	1145	40	1	894	1	PPM1H	12	63195670	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5592715	63195670	70656225	1247	24371											
AVPR1A	552	genome.wustl.edu	37	chr12	63541258	63541258	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtcttctgctcatacTgtcagtatcttctttgttga	6	19	7	9	0	7	1	2	1	5	0	7	1	7	1	0	0	2	3	0	0	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:63541258T>G	ENST00000299178.2	-	2	1243	c.1138A>C	c.(1138-1140)Agt>Cgt	p.S380R		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	380					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.S380G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CTGCTCATACTGTCAGTATCT	0.393																																																	1	Substitution - Missense(1)	central_nervous_system(1)											228	215	220					12																	63541258		2203	4300	6503	SO:0001583	missense	0			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"GPCR / Class A : Vasopressin and oxytocin receptors"	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1138A>C	12.37:g.63541258T>G	ENSP00000299178:p.Ser380Arg			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.S380R	ENST00000299178.2	37	c.1138	CCDS8965.1	12	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339780	0.60963	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.71579	-0.58;0.17	6.06	6.06	0.98353	Domain of unknown function DUF1856 (1);	0.000000	0.85682	D	0.000000	T	0.80417	0.4619	M	0.79926	2.475	0.80722	D	1	P	0.49447	0.924	P	0.52267	0.694	T	0.81562	-0.0876	9	.	.	.	-19.8949	15.7905	0.78357	0.0:0.0:0.0:1.0	.	380	P37288	V1AR_HUMAN	R	161;380	ENSP00000449822:S161R;ENSP00000299178:S380R	.	S	-	1	0	AVPR1A	61827525	1.000000	0.71417	0.999000	0.59377	0.050000	0.14768	5.763000	0.68818	2.324000	0.78689	0.533000	0.62120	AGT	AVPR1A	-	pfam_DUF1856,prints_Vprs_V1A_rcpt	ENSG00000166148		0.393	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR1A	HGNC	protein_coding	OTTHUMT00000406734.1	-	0	59	0	T			63541258	-1	tier1	-	no_errors	ENST00000299178	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	G	G	63541258	T	G	63541258	3	3	87	1	0	0	0	0	1	0	0	0	1232	1580	55	4	122	4	AVPR1A	12	63541258	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	345588	63541258	70310637	1248	24372											
TBK1	29110	genome.wustl.edu	37	chr12	64868147	64868147	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatttagaccctttgaaggGcctcgtaggaataaagaagt	13	10	10	8	1	0	3	0	1	0	2	1	4	0	4	3	2	0	1	3	2	7	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:64868147G>T	ENST00000331710.5	+	6	1017	c.678G>T	c.(676-678)ggG>ggT	p.G226G		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CCTTTGAAGGGCCTCGTAGGA	0.388																																																	0													138	136	137					12																	64868147		2203	4300	6503	SO:0001819	synonymous_variant	0			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.678G>T	12.37:g.64868147G>T			A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G226	ENST00000331710.5	37	c.678	CCDS8968.1	12																																																																																			TBK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000183735		0.388	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	-	0	59	0	G	NM_013254		64868147	1	tier1	-	no_errors	ENST00000331710	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.999	T	T	64868147	G	T	64868147	2	4	87	1	0	0	0	0	0	0	0	1	15684	1190	42	3		3	TBK1	12	64868147	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1326889	64868147	68983748	1249	24373											
IFNG	3458	genome.wustl.edu	37	chr12	68553363	68553363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacccaaaacgatgcagagCtgaaaagccaagatataact	19	5	8	9	1	0	3	0	1	0	2	0	5	0	3	2	0	6	2	2	0	8	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:68553363C>A	ENST00000229135.3	-	1	164	c.33G>T	c.(31-33)caG>caT	p.Q11H	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	11					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	CGATGCAGAGCTGAAAAGCCA	0.358																																																	0													43	39	40					12																	68553363		2203	4299	6502	SO:0001583	missense	0				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"Interferons"	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.33G>T	12.37:g.68553363C>A	ENSP00000229135:p.Gln11His		B5BU88|Q53ZV4	Missense_Mutation	SNP	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	p.Q11H	ENST00000229135.3	37	c.33	CCDS8980.1	12	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409594	0.25465	.	.	ENSG00000111537	ENST00000229135	T	0.33865	1.39	5.12	3.3	0.37823	.	0.793470	0.11748	N	0.533297	T	0.58566	0.2131	M	0.83118	2.625	0.25186	N	0.990165	D	0.76494	0.999	D	0.64595	0.927	T	0.46148	-0.9212	9	.	.	.	8.5897	8.6384	0.33962	0.0:0.8181:0.0:0.1819	.	11	P01579	IFNG_HUMAN	H	11	ENSP00000229135:Q11H	.	Q	-	3	2	IFNG	66839630	1.000000	0.71417	0.385000	0.26158	0.023000	0.10783	1.561000	0.36342	0.833000	0.34828	-0.333000	0.08304	CAG	IFNG	-	pirsf_Interferon_gamma	ENSG00000111537		0.358	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNG	HGNC	protein_coding	OTTHUMT00000402301.1	-	0	76	0	C			68553363	-1	tier1	-	no_errors	ENST00000229135	ensembl	human	known	74_37	missense	41.82	32	23	SNP	0.730	A	A	68553363	C	A	68553363	3	1	87	1	0	0	0	0	1	0	0	0	7575	796	28	3	483	3	IFNG	12	68553363	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3685216	68553363	65298532	1250	24374											
LGR5	8549	genome.wustl.edu	37	chr12	71977667	71977667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttttggcagctttgcacGacatggtgcctggtgggaga	7	11	14	9	1	0	1	0	0	0	1	0	3	0	1	1	4	3	3	1	4	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:71977667G>A	ENST00000266674.5	+	18	2188	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	LGR5_ENST00000536515.1_Missense_Mutation_p.R554Q|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.R602Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	626					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGCTTTGCACGACATGGTGCC	0.507																																																	0													170	124	139					12																	71977667		2203	4300	6503	SO:0001583	missense	0			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"GPCR / Class A : Orphans"	4504	protein-coding gene	gene with protein product		606667	"G protein-coupled receptor 49", "leucine-rich repeat-containing G protein-coupled receptor 5"	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1877G>A	12.37:g.71977667G>A	ENSP00000266674:p.Arg626Gln		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R626Q	ENST00000266674.5	37	c.1877	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979669	0.18812	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.83335	-1.71;-1.71;-1.71	5.84	-2.11	0.07187	GPCR, rhodopsin-like superfamily (1);	0.338675	0.25117	N	0.033020	T	0.51584	0.1683	N	0.00583	-1.355	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.45512	-0.9256	10	0.16420	T	0.52	.	15.6125	0.76737	0.902:0.0:0.098:0.0	.	602;626	O75473-2;O75473	.;LGR5_HUMAN	Q	626;626;554;602	ENSP00000266674:R626Q;ENSP00000443033:R554Q;ENSP00000441035:R602Q	ENSP00000266674:R626Q	R	+	2	0	LGR5	70263934	0.000000	0.05858	0.007000	0.13788	0.829000	0.46940	0.901000	0.28445	-0.356000	0.08187	0.655000	0.94253	CGA	LGR5	-	pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM	ENSG00000139292		0.507	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	-	0	66	0	G	NM_003667		71977667	1	tier1	-	no_errors	ENST00000266674	ensembl	human	known	74_37	missense	15.19	67	12	SNP	0.375	A	A	71977667	G	A	71977667	3	1	87	1	0	0	0	0	1	0	0	0	8786	1058	37	1	1947	1	LGR5	12	71977667	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3424304	71977667	61874228	1251	24375											
NAV3	89795	genome.wustl.edu	37	chr12	78513542	78513542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaattgggtcagggcgctCgagtcctgtcaccgtcaacc	9	9	11	12	3	3	0	3	0	0	0	5	1	4	0	3	2	1	1	3	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:78513542C>T	ENST00000397909.2	+	15	3739	c.3566C>T	c.(3565-3567)tCg>tTg	p.S1189L	NAV3_ENST00000228327.6_Missense_Mutation_p.S1189L|NAV3_ENST00000536525.2_Missense_Mutation_p.S1189L|NAV3_ENST00000266692.7_Missense_Mutation_p.S1189L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1189	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAGGGCGCTCGAGTCCTGTC	0.498										HNSCC(70;0.22)																																							0													77	82	80					12																	78513542		1938	4126	6064	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3566C>T	12.37:g.78513542C>T	ENSP00000381007:p.Ser1189Leu		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.S1189L	ENST00000397909.2	37	c.3566		12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016592	0.93404	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.55	5.55	0.83447	.	0.000000	0.37095	U	0.002243	T	0.56156	0.1966	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.963;0.997;0.996;0.996	T	0.57312	-0.7833	10	0.87932	D	0	-8.7833	19.5083	0.95130	0.0:1.0:0.0:0.0	.	1189;1189;1189;1189	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	L	1189	ENSP00000446132:S1189L;ENSP00000381007:S1189L;ENSP00000228327:S1189L;ENSP00000266692:S1189L	ENSP00000228327:S1189L	S	+	2	0	NAV3	77037673	1.000000	0.71417	0.963000	0.40424	0.973000	0.67179	7.594000	0.82698	2.600000	0.87896	0.655000	0.94253	TCG	NAV3	-	NULL	ENSG00000067798		0.498	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	55	0	C	NM_001024383		78513542	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	T	T	78513542	C	T	78513542	3	4	87	1	0	0	0	0	1	0	0	0	10223	893	31	1	3624	1	NAV3	12	78513542	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6535875	78513542	55338353	1252	24376											
C12orf26	84190	genome.wustl.edu	37	chr12	82792803	82792803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgcaaaataaagttaaaaAtaaagctgatactgaggaag	21	8	9	3	0	0	2	0	2	0	0	0	3	0	3	0	1	3	3	0	1	11	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:82792803A>G	ENST00000248306.3	+	4	830	c.761A>G	c.(760-762)aAt>aGt	p.N254S	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	254							methyltransferase activity (GO:0008168)										AAAGTTAAAAATAAAGCTGAT	0.343																																																	0													61	58	59					12																	82792803		2203	4299	6502	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.761A>G	12.37:g.82792803A>G	ENSP00000248306:p.Asn254Ser		Q9H5Y3	Missense_Mutation	SNP	NULL	p.N254S	ENST00000248306.3	37	c.761	CCDS9024.1	12	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.768753	0.00645	.	.	ENSG00000127720	ENST00000248306	T	0.28895	1.59	5.39	-4.53	0.03462	.	1.374390	0.03930	N	0.285089	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.20174	-1.0283	10	0.07644	T	0.81	0.9045	4.4167	0.11459	0.3641:0.1062:0.4254:0.1043	.	254	Q8N6Q8	CL026_HUMAN	S	254	ENSP00000248306:N254S	ENSP00000248306:N254S	N	+	2	0	C12orf26	81316934	0.001000	0.12720	0.000000	0.03702	0.031000	0.12232	0.063000	0.14410	-0.708000	0.05015	0.473000	0.43528	AAT	METTL25	-	NULL	ENSG00000127720		0.343	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1		0	31	0	A	NM_032230		82792803	1			no_errors	ENST00000248306	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	G	G	82792803	A	G	82792803	3	3	87	1	0	0	0	0	1	0	0	0	1684	101	4	4	775	4	C12orf26	12	82792803	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4279261	82792803	51059092	1253	24377											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85450889	85450889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagagacctgtgaaatGcccagccaacatgacacccg	16	4	9	12	1	0	4	0	2	0	2	0	5	0	4	4	0	3	0	4	0	4	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:85450889G>A	ENST00000393217.2	+	8	2379	c.2318G>A	c.(2317-2319)tGc>tAc	p.C773Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	773										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTGTGAAATGCCCAGCCAAC	0.358																																																	0													110	126	120					12																	85450889		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2318G>A	12.37:g.85450889G>A	ENSP00000376910:p.Cys773Tyr		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.C773Y	ENST00000393217.2	37	c.2318	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130254	0.08981	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.52057	0.68	5.56	2.55	0.30701	.	0.664592	0.14292	N	0.328827	T	0.39279	0.1072	L	0.52364	1.645	0.31946	N	0.610235	B;B	0.33964	0.434;0.325	B;B	0.35114	0.196;0.021	T	0.52102	-0.8620	10	0.62326	D	0.03	.	5.4105	0.16346	0.0727:0.2475:0.5387:0.1411	.	773;748	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Y	773;748;773	ENSP00000376910:C773Y	ENSP00000256007:C773Y	C	+	2	0	LRRIQ1	83975020	0.857000	0.29778	0.950000	0.38849	0.172000	0.22775	1.084000	0.30828	1.306000	0.44926	0.591000	0.81541	TGC	LRRIQ1	-	NULL	ENSG00000133640		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	66	0	G	NM_032165		85450889	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	16.13	52	10	SNP	0.982	A	A	85450889	G	A	85450889	3	1	87	1	0	0	0	0	1	0	0	0	9064	1319	46	3	2344	3	LRRIQ1	12	85450889	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2658086	85450889	48401006	1254	24378											
CRADD	8738	genome.wustl.edu	37	chr12	94243848	94243848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgagtgggagcccaTggtgctgtctctgggactgt	4	10	17	10	0	1	1	0	1	1	0	2	3	1	3	2	4	2	1	2	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:94243848T>C	ENST00000542893.2	+	3	719	c.401T>C	c.(400-402)aTg>aCg	p.M134T	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.M134T			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	134	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGGAGCCCATGGTGCTGTCT	0.612																																																	0													56	53	54					12																	94243848		2203	4300	6503	SO:0001583	missense	0			U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"RIP-associated ICH1/CED3-homologous protein with death domain"	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.401T>C	12.37:g.94243848T>C	ENSP00000439068:p.Met134Thr		B7Z2Q5	Missense_Mutation	SNP	pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain	p.M134T	ENST00000542893.2	37	c.401	CCDS9048.1	12	.	.	.	.	.	.	.	.	.	.	T	11.78	1.740541	0.30865	.	.	ENSG00000169372	ENST00000332896;ENST00000542893	D;D	0.85088	-1.94;-1.94	5.86	4.71	0.59529	Death (3);DEATH-like (2);	0.527266	0.21167	N	0.079059	T	0.71945	0.3400	N	0.08118	0	0.58432	D	0.999994	B	0.06786	0.001	B	0.08055	0.003	T	0.66779	-0.5837	10	0.66056	D	0.02	-9.4979	11.9202	0.52787	0.0:0.0678:0.0:0.9322	.	134	P78560	CRADD_HUMAN	T	134	ENSP00000327647:M134T;ENSP00000439068:M134T	ENSP00000327647:M134T	M	+	2	0	CRADD	92767979	0.938000	0.31826	0.193000	0.23327	0.723000	0.41478	5.237000	0.65360	1.041000	0.40125	0.460000	0.39030	ATG	CRADD	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000169372		0.612	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRADD	HGNC	protein_coding	OTTHUMT00000408515.1	-	0	67	0	T	NM_003805		94243848	1	tier1	-	no_errors	ENST00000332896	ensembl	human	known	74_37	missense	33.90	39	20	SNP	0.032	C	C	94243848	T	C	94243848	3	2	87	1	0	0	0	0	1	0	0	0	3852	1464	51	4	407	4	CRADD	12	94243848	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	8792959	94243848	39608047	1255	24379											
FGD6	55785	genome.wustl.edu	37	chr12	95501371	95501371	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggttgcatcactttccGagacagcttcatcagaattc	10	12	8	11	2	3	2	3	0	0	2	6	4	4	2	1	1	2	3	1	1	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:95501371G>T	ENST00000343958.4	-	12	3524	c.3301C>A	c.(3301-3303)Cgg>Agg	p.R1101R	FGD6_ENST00000546711.1_Silent_p.R1101R|FGD6_ENST00000549499.1_Silent_p.R1101R	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	1101	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCACTTTCCGAGACAGCTTC	0.418																																																	0													138	120	126					12																	95501371		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.3301C>A	12.37:g.95501371G>T			Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R1101	ENST00000343958.4	37	c.3301	CCDS31878.1	12																																																																																			FGD6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000180263		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1		0	38	0	G	NM_018351		95501371	-1			no_errors	ENST00000343958	ensembl	human	known	74_37	silent	12.50	28	4	SNP	1.000	T	T	95501371	G	T	95501371	2	4	87	1	0	0	0	0	0	0	0	1	5859	1057	37	2		2	FGD6	12	95501371	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1257523	95501371	38350524	1256	24380											
FGD6	55785	genome.wustl.edu	37	chr12	95603382	95603382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggcttttctgaagcccGtttaggcatatcaaaggagg	10	11	11	9	1	2	1	1	1	1	0	2	2	2	2	1	4	1	3	1	4	4	5	rs149076340	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:95603382G>A	ENST00000343958.4	-	2	1901	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.R560W|FGD6_ENST00000549499.1_Missense_Mutation_p.R560W	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	560					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGAAGCCCGTTTAGGCATA	0.423													G|||	3	0.000599042	8e-04	0	5008	,	,		19397	0.002		0	False		,,,				2504	0																0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	88	94	92		1678	5.1	0.4	12	dbSNP_134	92	0,8600		0,0,4300	yes	missense	FGD6	NM_018351.3	101	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	560/1431	95603382	2,13004	2203	4300	6503	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1678C>T	12.37:g.95603382G>A	ENSP00000344446:p.Arg560Trp		Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R560W	ENST00000343958.4	37	c.1678	CCDS31878.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.94	3.260632	0.59431	4.54E-4	0.0	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.70631	-0.4;-0.5;-0.44	6.04	5.14	0.70334	.	0.861329	0.09697	N	0.767537	T	0.74405	0.3712	L	0.43152	1.355	0.29047	N	0.884715	D	0.76494	0.999	P	0.50490	0.642	T	0.69465	-0.5138	10	0.66056	D	0.02	-0.1208	16.7057	0.85371	0.0:0.0:0.8694:0.1306	.	560	Q6ZV73	FGD6_HUMAN	W	560	ENSP00000344446:R560W;ENSP00000450342:R560W;ENSP00000449005:R560W	ENSP00000344446:R560W	R	-	1	2	FGD6	94127513	0.995000	0.38212	0.405000	0.26409	0.740000	0.42216	2.380000	0.44327	1.536000	0.49237	0.561000	0.74099	CGG	FGD6	-	NULL	ENSG00000180263		0.423	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1		0	37	0	G	NM_018351		95603382	-1			no_errors	ENST00000343958	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.922	A	A	95603382	G	A	95603382	3	1	87	1	0	0	0	0	1	0	0	0	5859	1144	40	1	2694	1	FGD6	12	95603382	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	102011	95603382	38248513	1257	24381											
ANO4	121601	genome.wustl.edu	37	chr12	101488063	101488063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagttgccctgcttctgacGaatttaggtgagtggaatcc	10	12	11	8	1	1	2	0	2	1	0	2	4	2	3	2	2	2	2	2	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:101488063G>A	ENST00000392977.3	+	18	1941	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	ANO4_ENST00000550015.1_Silent_p.T97T|ANO4_ENST00000299222.9_Silent_p.T97T|ANO4_ENST00000392979.3_Silent_p.T542T			Q32M45	ANO4_HUMAN	anoctamin 4	577					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGCTTCTGACGAATTTAGGTG	0.328										HNSCC(74;0.22)																																							0													99	100	100					12																	101488063		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	23837	protein-coding gene	gene with protein product		610111	"transmembrane protein 16D"	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1731G>A	12.37:g.101488063G>A			Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	pfam_Anoctamin	p.T577	ENST00000392977.3	37	c.1731		12																																																																																			ANO4	-	pfam_Anoctamin	ENSG00000151572		0.328	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	-	0	90	0	G	NM_178826		101488063	1	tier1	-	no_errors	ENST00000392977	ensembl	human	known	74_37	silent	38.03	44	27	SNP	0.813	A	A	101488063	G	A	101488063	2	1	87	1	0	0	0	0	0	0	0	1	699	1045	37	1		1	ANO4	12	101488063	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5884681	101488063	32363832	1258	24382											
HCFC2	29915	genome.wustl.edu	37	chr12	104474575	104474575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggacagtgccacttccacGaagccttcatacagccagtg	11	7	10	13	1	1	0	1	0	0	0	2	2	2	1	4	1	4	0	4	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:104474575G>A	ENST00000229330.4	+	5	838	c.734G>A	c.(733-735)cGa>cAa	p.R245Q		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	245					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCACTTCCACGAAGCCTTCAT	0.318																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													110	109	110					12																	104474575		2202	4300	6502	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.734G>A	12.37:g.104474575G>A	ENSP00000229330:p.Arg245Gln		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R245Q	ENST00000229330.4	37	c.734	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.477473	0.96291	.	.	ENSG00000111727	ENST00000229330	T	0.71817	-0.6	5.75	4.85	0.62838	Kelch-type beta propeller (1);	0.123045	0.52532	D	0.000068	D	0.88115	0.6350	H	0.95645	3.7	0.49299	D	0.999775	D	0.89917	1.0	D	0.70227	0.968	D	0.91163	0.4962	10	0.87932	D	0	-11.8529	15.175	0.72903	0.0685:0.0:0.9315:0.0	.	245	Q9Y5Z7	HCFC2_HUMAN	Q	245	ENSP00000229330:R245Q	ENSP00000229330:R245Q	R	+	2	0	HCFC2	102998705	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.388000	0.79795	2.725000	0.93324	0.655000	0.94253	CGA	HCFC2	-	pfam_Kelch_1	ENSG00000111727		0.318	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	-	0	82	0	G	NM_013320		104474575	1	tier1	-	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	20.25	63	16	SNP	1.000	A	A	104474575	G	A	104474575	3	1	87	1	0	0	0	0	1	0	0	0	7020	1058	37	1	752	1	HCFC2	12	104474575	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2986512	104474575	29377320	1259	24383											
HCFC2	29915	genome.wustl.edu	37	chr12	104495909	104495909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggttttcctggagctcCttctgcagtcagaatttcaa	7	15	8	11	0	3	1	2	0	1	1	6	2	6	2	3	2	2	3	3	2	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:104495909C>A	ENST00000229330.4	+	14	2146	c.2042C>A	c.(2041-2043)cCt>cAt	p.P681H	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	681	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGGAGCTCCTTCTGCAGTC	0.383																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													121	119	120					12																	104495909		2203	4300	6503	SO:0001583	missense	0			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.2042C>A	12.37:g.104495909C>A	ENSP00000229330:p.Pro681His		B2R8Q5|C0H5X3	Missense_Mutation	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P681H	ENST00000229330.4	37	c.2042	CCDS9097.1	12	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632806	0.87660	.	.	ENSG00000111727	ENST00000229330	T	0.63744	-0.06	5.19	5.19	0.71726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	M	0.76170	2.325	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.82295	-0.0528	10	0.87932	D	0	-15.3516	19.0707	0.93134	0.0:1.0:0.0:0.0	.	681	Q9Y5Z7	HCFC2_HUMAN	H	681	ENSP00000229330:P681H	ENSP00000229330:P681H	P	+	2	0	HCFC2	103020039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.739000	0.68622	2.565000	0.86533	0.655000	0.94253	CCT	HCFC2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000111727		0.383	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	-	0	49	0	C	NM_013320		104495909	1	tier1	-	no_errors	ENST00000229330	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A	A	104495909	C	A	104495909	3	1	87	1	0	0	0	0	1	0	0	0	7020	681	24	3	2096	3	HCFC2	12	104495909	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	21334	104495909	29355986	1260	24384											
PRDM4	11108	genome.wustl.edu	37	chr12	108128295	108128295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggacacttgatctggcGttctctaagaggaacacaag	11	10	11	9	1	2	2	0	1	2	1	3	4	2	4	0	3	1	1	0	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:108128295G>A	ENST00000228437.5	-	12	2557	c.2098C>T	c.(2098-2100)Cgc>Tgc	p.R700C	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	700					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TTGATCTGGCGTTCTCTAAGA	0.403																																																	0													119	120	120					12																	108128295		2203	4300	6503	SO:0001583	missense	0			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"Zinc fingers, C2H2-type"	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2098C>T	12.37:g.108128295G>A	ENSP00000228437:p.Arg700Cys		Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.R700C	ENST00000228437.5	37	c.2098	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807263	0.90623	.	.	ENSG00000110851	ENST00000228437	T	0.20463	2.07	6.03	5.11	0.69529	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.098018	0.64402	D	0.000001	T	0.60064	0.2240	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71906	-0.4451	10	0.87932	D	0	-2.0352	16.7691	0.85532	0.0:0.0:0.8706:0.1294	.	700	Q9UKN5	PRDM4_HUMAN	C	700	ENSP00000228437:R700C	ENSP00000228437:R700C	R	-	1	0	PRDM4	106652425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.840000	0.86819	2.868000	0.98415	0.555000	0.69702	CGC	PRDM4	-	pirsf_Znf_PRDM4,pfscan_Znf_C2H2	ENSG00000110851		0.403	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1		0	32	0	G	NM_012406		108128295	-1			no_errors	ENST00000228437	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A	A	108128295	G	A	108128295	3	1	87	1	0	0	0	0	1	0	0	0	12501	1145	40	1	311	1	PRDM4	12	108128295	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3632386	108128295	25723600	1261	24385											
ACACB	32	genome.wustl.edu	37	chr12	109634881	109634881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatcgagattgatgcccaCcggctgaatgatggggggct	9	8	14	10	2	0	4	0	3	0	1	1	5	0	4	2	4	1	2	2	4	1	1	rs138898549	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:109634881C>T	ENST00000338432.7	+	17	2669	c.2550C>T	c.(2548-2550)caC>caT	p.H850H	ACACB_ENST00000377848.3_Silent_p.H850H|ACACB_ENST00000377854.5_Silent_p.H850H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	850					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTGATGCCCACCGGCTGAATG	0.592																																																	0								C		0,4406		0,0,2203	69	59	62		2550	3.4	1	12	dbSNP_134	62	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	ACACB	NM_001093.3		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		850/2459	109634881	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 2"	601557	"acetyl-Coenzyme A carboxylase beta"			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2550C>T	12.37:g.109634881C>T			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.H850	ENST00000338432.7	37	c.2550	CCDS31898.1	12																																																																																			ACACB	-	NULL	ENSG00000076555		0.592	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	-	0	35	0	C	NM_001093		109634881	1	tier1	rs138898549	no_errors	ENST00000338432	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	T	T	109634881	C	T	109634881	2	4	87	1	0	0	0	0	0	0	0	1	107	506	18	3		3	ACACB	12	109634881	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1506586	109634881	24217014	1262	24386											
TCTN1	79600	genome.wustl.edu	37	chr12	111085086	111085086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacggatccctgctgaatcCacaggccaaaatagtcaatg	14	8	8	11	1	1	1	1	1	0	0	3	2	3	2	3	2	2	1	3	2	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:111085086C>A	ENST00000551590.1	+	13	1721	c.1565C>A	c.(1564-1566)cCa>cAa	p.P522Q	HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.P527Q|TCTN1_ENST00000397655.3_Missense_Mutation_p.P508Q|TCTN1_ENST00000377654.3_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	522					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						CTGCTGAATCCACAGGCCAAA	0.423																																																	0													136	120	125					12																	111085086		1865	4095	5960	SO:0001583	missense	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"Tectonic proteins"	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1565C>A	12.37:g.111085086C>A	ENSP00000448735:p.Pro522Gln		A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	pfam_DUF1619	p.P527Q	ENST00000551590.1	37	c.1580	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032642	0.75504	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000397657;ENST00000397659;ENST00000397652;ENST00000547461;ENST00000552038;ENST00000485445;ENST00000491068	D;D;D	0.83837	-1.71;-1.7;-1.77	5.85	5.85	0.93711	.	0.000000	0.64402	U	0.000002	D	0.92001	0.7466	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91956	0.5575	10	0.66056	D	0.02	-8.9611	20.1632	0.98142	0.0:1.0:0.0:0.0	.	522;508;527	Q2MV58;Q2MV58-3;Q2MV58-2	TECT1_HUMAN;.;.	Q	418;522;508;344;527;466;83;126;41;41	ENSP00000448735:P522Q;ENSP00000380775:P508Q;ENSP00000380779:P527Q	ENSP00000380771:P418Q	P	+	2	0	TCTN1	109569469	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.058000	0.76676	2.772000	0.95346	0.650000	0.86243	CCA	TCTN1	-	NULL	ENSG00000204852		0.423	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	-	0	54	0	C	NM_024549		111085086	1	tier1	-	no_errors	ENST00000397659	ensembl	human	known	74_37	missense	36.07	39	22	SNP	1.000	A	A	111085086	C	A	111085086	3	1	87	1	0	0	0	0	1	0	0	0	15769	594	21	3	1802	3	TCTN1	12	111085086	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1450205	111085086	22766809	1263	24387											
ATXN2	6311	genome.wustl.edu	37	chr12	111990213	111990213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtacttttctcatgtgCggcatcaagtaccaaatcac	10	14	6	11	1	4	0	3	0	2	0	5	0	4	0	1	1	3	3	1	1	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:111990213C>T	ENST00000377617.3	-	5	1083	c.922G>A	c.(922-924)Gca>Aca	p.A308T	ATXN2_ENST00000535949.1_Missense_Mutation_p.A19T|ATXN2_ENST00000608853.1_Missense_Mutation_p.A148T|ATXN2_ENST00000389153.4_Missense_Mutation_p.A43T|ATXN2_ENST00000542287.2_Missense_Mutation_p.A43T|ATXN2_ENST00000550104.1_Missense_Mutation_p.A308T|ATXN2_ENST00000549455.1_Intron	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	308					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTCATGTGCGGCATCAAGT	0.348																																																	0													78	78	78					12																	111990213		2203	4300	6503	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"Ataxins"	10555	protein-coding gene	gene with protein product	"trinucleotide repeat containing 13"	601517	"spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.922G>A	12.37:g.111990213C>T	ENSP00000366843:p.Ala308Thr		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.A308T	ENST00000377617.3	37	c.922	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.484994	0.96323	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000548492	T;T;T;T;T	0.70282	0.83;-0.41;-0.47;0.83;0.83	5.54	5.54	0.83059	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.84329	0.5448	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.85130	0.996;0.997;0.996;0.996	T	0.82161	-0.0594	10	0.36615	T	0.2	-10.8382	19.8254	0.96616	0.0:1.0:0.0:0.0	.	43;308;19;43	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	T	43;308;308;43;19;51	ENSP00000373805:A43T;ENSP00000366843:A308T;ENSP00000446576:A308T;ENSP00000445583:A43T;ENSP00000449566:A51T	ENSP00000366843:A308T	A	-	1	0	ATXN2	110474596	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.105000	0.77031	2.754000	0.94517	0.655000	0.94253	GCA	ATXN2	-	superfamily_LSM_dom	ENSG00000204842		0.348	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3		0	73	0	C	NM_002973		111990213	-1			no_errors	ENST00000377617	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	T	T	111990213	C	T	111990213	3	4	87	1	0	0	0	0	1	0	0	0	1212	768	27	1	3103	1	ATXN2	12	111990213	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	905127	111990213	21861682	1264	24388											
ALDH2	217	genome.wustl.edu	37	chr12	112229927	112229927	+	Frame_Shift_Del	DEL	G	G	-																															aagagagtgaccttggagctGggggggaagagccccaacat																								rs554937672		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:112229927delG	ENST00000261733.2	+	8	919	c.858delG	c.(856-858)ctgfs	p.L286fs	ALDH2_ENST00000416293.3_Frame_Shift_Del_p.L239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CCTTGGAGCTGGGGGGGAAGA	0.572			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	2	Insertion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"Aldehyde dehydrogenases"	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.858delG	12.37:g.112229927delG	ENSP00000261733:p.Leu286fs		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Frame_Shift_Del	DEL	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K289fs	ENST00000261733.2	37	c.858	CCDS9155.1	12																																																																																			ALDH2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000111275		0.572	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1		0	68	0	G	NM_000690		112229927	1	tier1		no_errors	ENST00000261733	ensembl	human	known	74_37	frame_shift_del	15.69	43	8	DEL	0.991	-	-	112229927	G	-	112229927	7	5	87	1	0	1	0	1	0	0	0	0	496	1335	47	0	888	0	ALDH2	12	112229927	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	239714	112229927	21621968	1265	24389											
MAPKAPK5	8550	genome.wustl.edu	37	chr12	112304016	112304016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaaattcttcttgatcGtccaaaagctagaaatgagg	14	11	9	7	1	2	4	0	3	2	1	4	4	3	4	1	1	1	2	1	1	6	4	rs371560016		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:112304016G>A	ENST00000551404.2	+	3	275	c.167G>A	c.(166-168)cGt>cAt	p.R56H	MAPKAPK5_ENST00000546394.1_3'UTR|MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.R56H			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CTTCTTGATCGTCCAAAAGCT	0.353																																																	0								G	HIS/ARG,HIS/ARG	0,3660		0,0,1830	72	66	68		167,167	5.6	1	12		68	1,8151		0,1,4075	no	missense,missense	MAPKAPK5	NM_003668.2,NM_139078.1	29,29	0,1,5905	AA,AG,GG		0.0123,0.0,0.0085	possibly-damaging,possibly-damaging	56/472,56/474	112304016	1,11811	1830	4076	5906	SO:0001583	missense	0			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.167G>A	12.37:g.112304016G>A	ENSP00000449381:p.Arg56His		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R56H	ENST00000551404.2	37	c.167	CCDS44975.1	12	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039495	0.93630	0.0	1.23E-4	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000546394;ENST00000551404	T;T	0.66815	-0.23;-0.23	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.118427	0.64402	D	0.000015	T	0.79707	0.4492	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.971;0.999	P;D	0.74674	0.521;0.984	T	0.80507	-0.1352	10	0.66056	D	0.02	.	17.8739	0.88819	0.0:0.0:1.0:0.0	.	56;56	Q8IW41;Q8IW41-2	MAPK5_HUMAN;.	H	56	ENSP00000449667:R56H;ENSP00000449381:R56H	ENSP00000202788:R56H	R	+	2	0	MAPKAPK5	110788399	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.660000	0.98599	2.651000	0.90000	0.467000	0.42956	CGT	MAPKAPK5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000089022		0.353	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPKAPK5	HGNC	protein_coding	OTTHUMT00000405019.2	-	0	47	0	G	NM_139078		112304016	1	tier1	-	no_errors	ENST00000551404	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	A	A	112304016	G	A	112304016	3	1	87	1	0	0	0	0	1	0	0	0	9329	1145	40	1	177	1	MAPKAPK5	12	112304016	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	74089	112304016	21547879	1266	24390											
NOS1	4842	genome.wustl.edu	37	chr12	117655961	117655961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatatcctcatggtatcgGttgtcatcctagaagacaga	14	11	8	8	1	2	3	2	0	0	3	5	3	4	3	2	2	0	2	2	2	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:117655961G>A	ENST00000338101.4	-	28	4285	c.4281C>T	c.(4279-4281)aaC>aaT	p.N1427N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Silent_p.N1393N			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CATGGTATCGGTTGTCATCCT	0.468																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													264	255	258					12																	117655961		1921	4141	6062	SO:0001819	synonymous_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4281C>T	12.37:g.117655961G>A				Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.N1393	ENST00000338101.4	37	c.4179	CCDS55890.1	12																																																																																			NOS1	-	pirsf_NOS_euk	ENSG00000089250		0.468	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1	-	0	32	0	G			117655961	-1	tier1	-	no_errors	ENST00000317775	ensembl	human	known	74_37	silent	13.79	25	4	SNP	1.000	A	A	117655961	G	A	117655961	2	1	87	1	0	0	0	0	0	0	0	1	10580	1252	44	3		3	NOS1	12	117655961	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5351945	117655961	16195934	1267	24391											
NOS1	4842	genome.wustl.edu	37	chr12	117703196	117703196	+	Frame_Shift_Del	DEL	G	G	-																															ggggtgatgcttccggacatGgggggcacgatccacaccca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:117703196delG	ENST00000338101.4	-	11	2065	c.2061delC	c.(2059-2061)cccfs	p.P687fs	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Frame_Shift_Del_p.P687fs			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCCGGACATGGGGGGCACGA	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													33	36	35					12																	117703196		2118	4266	6384	SO:0001589	frameshift_variant	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2061delC	12.37:g.117703196delG	ENSP00000337459:p.Pro687fs			Frame_Shift_Del	DEL	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.M688fs	ENST00000338101.4	37	c.2061	CCDS55890.1	12																																																																																			NOS1	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000089250		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	HGNC	protein_coding	OTTHUMT00000268053.1		0	45	0	G			117703196	-1	tier1		no_errors	ENST00000317775	ensembl	human	known	74_37	frame_shift_del	23.81	32	10	DEL	1.000	-	-	117703196	G	-	117703196	7	5	87	1	0	1	0	1	0	0	0	0	10580	1335	47	0	2315	0	NOS1	12	117703196	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	47235	117703196	16148699	1268	24392											
KSR2	283455	genome.wustl.edu	37	chr12	117923482	117923482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaacggaatagagcgtcCgtcccttacagaggctgaaa	13	7	10	11	3	1	3	1	1	0	2	3	4	3	4	2	2	3	1	2	2	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:117923482C>T	ENST00000339824.5	-	15	2961	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.R716Q			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATAGAGCGTCCGTCCCTTACA	0.448																																																	0													104	97	99					12																	117923482		1916	4132	6048	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2234G>A	12.37:g.117923482C>T	ENSP00000339952:p.Arg745Gln		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R745Q	ENST00000339824.5	37	c.2234		12	.	.	.	.	.	.	.	.	.	.	C	32	5.185363	0.94885	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.82526	-1.62;-1.62	5.75	5.75	0.90469	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90287	0.6962	M	0.62209	1.925	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	D	0.89874	0.4025	10	0.56958	D	0.05	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	745	Q6VAB6	KSR2_HUMAN	Q	716;745	ENSP00000389715:R716Q;ENSP00000339952:R745Q	ENSP00000339952:R745Q	R	-	2	0	KSR2	116407865	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.763000	0.85283	2.716000	0.92895	0.655000	0.94253	CGG	KSR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000171435		0.448	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0	31	0	C	NM_173598		117923482	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T	T	117923482	C	T	117923482	3	4	87	1	0	0	0	0	1	0	0	0	8610	652	23	1	642	1	KSR2	12	117923482	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	220286	117923482	15928413	1269	24393											
CIT	11113	genome.wustl.edu	37	chr12	120156578	120156578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcacagcgagctttcTccttctccagggccagcttc	5	11	9	16	1	3	0	0	0	3	0	6	1	3	0	3	1	4	4	3	1	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:120156578T>C	ENST00000261833.7	-	30	3855	c.3803A>G	c.(3802-3804)gAg>gGg	p.E1268G	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E1310G	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1268	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCGAGCTTTCTCCTTCTCCAG	0.557																																																	0													85	87	87					12																	120156578		2203	4300	6503	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"serine/threonine kinase 21"	605629	"citron (rho-interacting, serine/threonine kinase 21)"			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3803A>G	12.37:g.120156578T>C	ENSP00000261833:p.Glu1268Gly		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.E1268G	ENST00000261833.7	37	c.3803	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.0|27.0	4.790148|4.790148	0.90367|0.90367	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.75154|.	-0.73;-0.91|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74876|0.74876	0.3774|0.3774	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.998;1.0|.	D;D;D|.	0.80764|.	0.994;0.979;0.983|.	T|T	0.75795|0.75795	-0.3192|-0.3192	10|5	0.72032|.	D|.	0.01|.	.|.	15.5612|15.5612	0.76249|0.76249	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1310;1268;786|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	G|G	1310;1268|881	ENSP00000376306:E1310G;ENSP00000261833:E1268G|.	ENSP00000261833:E1268G|.	E|R	-|-	2|1	0|2	CIT|CIT	118640961|118640961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.040000|8.040000	0.89188|0.89188	2.069000|2.069000	0.61940|0.61940	0.533000|0.533000	0.62120|0.62120	GAG|AGA	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.557	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	-	0	56	0	T	NM_007174		120156578	-1	tier1	-	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	C	C	120156578	T	C	120156578	3	2	87	1	0	0	0	0	1	0	0	0	3445	1551	54	4	2352	4	CIT	12	120156578	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2233096	120156578	13695317	1270	24394											
GCN1L1	10985	genome.wustl.edu	37	chr12	120580391	120580391	+	Frame_Shift_Del	DEL	G	G	-																															taggatctcacgcaaggtgcGgggggtattggagacaacaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:120580391delG	ENST00000300648.6	-	44	5761	c.5749delC	c.(5749-5751)cgcfs	p.R1917fs		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1917					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCAAGGTGCGGGGGGTATTG	0.602																																																	0													56	65	62					12																	120580391		1968	4156	6124	SO:0001589	frameshift_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5749delC	12.37:g.120580391delG	ENSP00000300648:p.Arg1917fs		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Frame_Shift_Del	DEL	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R1917fs	ENST00000300648.6	37	c.5749	CCDS41847.1	12																																																																																			GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.602	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1		0	104	0	G			120580391	-1	tier1		no_errors	ENST00000300648	ensembl	human	known	74_37	frame_shift_del	29.67	64	27	DEL	1.000	-	-	120580391	G	-	120580391	7	5	87	1	0	1	0	1	0	0	0	0	6324	1116	39	0	2326	0	GCN1L1	12	120580391	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	423813	120580391	13271504	1271	24395											
MSI1	4440	genome.wustl.edu	37	chr12	120795666	120795666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcacacactttctccaCgatgtcctcactctcaaacg	11	12	3	15	2	4	0	3	0	2	0	7	1	5	0	2	0	1	0	2	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:120795666C>T	ENST00000257552.2	-	8	575	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	163	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTTTCTCCACGATGTCCTCA	0.498																																																	0													133	102	112					12																	120795666		2203	4300	6503	SO:0001583	missense	0			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"RNA binding motif (RRM) containing"	7330	protein-coding gene	gene with protein product		603328	"Musashi (Drosophila) homolog 1", "musashi homolog 1 (Drosophila)"			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.487G>A	12.37:g.120795666C>T	ENSP00000257552:p.Val163Met		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V163M	ENST00000257552.2	37	c.487	CCDS9196.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533823	0.85812	.	.	ENSG00000135097	ENST00000257552	T	0.75260	-0.92	5.09	5.09	0.68999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.095210	0.43919	D	0.000520	D	0.84813	0.5555	M	0.67397	2.05	0.80722	D	1	D	0.56287	0.975	D	0.65323	0.934	D	0.86338	0.1703	10	0.87932	D	0	.	18.8779	0.92346	0.0:1.0:0.0:0.0	.	163	O43347	MSI1H_HUMAN	M	163	ENSP00000257552:V163M	ENSP00000257552:V163M	V	-	1	0	MSI1	119280049	1.000000	0.71417	0.997000	0.53966	0.765000	0.43378	7.380000	0.79704	2.548000	0.85928	0.555000	0.69702	GTG	MSI1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000135097		0.498	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI1	HGNC	protein_coding	OTTHUMT00000403629.1	-	0	25	0	C	NM_002442		120795666	-1	tier1	-	no_errors	ENST00000257552	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	T	T	120795666	C	T	120795666	3	4	87	1	0	0	0	0	1	0	0	0	9913	536	19	1	629	1	MSI1	12	120795666	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	215275	120795666	13056229	1272	24396											
CAMKK2	10645	genome.wustl.edu	37	chr12	121683003	121683003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggctgccctcgaatgggTtcccaaaggagcgtttacgt	7	9	13	12	4	0	0	0	0	0	0	2	2	1	1	3	3	3	3	3	3	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:121683003T>C	ENST00000324774.5	-	15	2321	c.1493A>G	c.(1492-1494)aAc>aGc	p.N498S	CAMKK2_ENST00000538733.1_Missense_Mutation_p.N455S|CAMKK2_ENST00000392473.2_Missense_Mutation_p.N498S|CAMKK2_ENST00000337174.3_Missense_Mutation_p.N498S|CAMKK2_ENST00000412367.2_Missense_Mutation_p.N498S|CAMKK2_ENST00000402834.4_Missense_Mutation_p.N498S|CAMKK2_ENST00000347034.2_Missense_Mutation_p.N455S|CAMKK2_ENST00000392474.2_Missense_Mutation_p.N498S|CAMKK2_ENST00000545538.1_Missense_Mutation_p.N285S|CAMKK2_ENST00000404169.3_Missense_Mutation_p.N498S|CAMKK2_ENST00000446440.2_Missense_Mutation_p.N455S	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	498	Calmodulin-binding. {ECO:0000250}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCGAATGGGTTCCCAAAGGA	0.602																																																	0													59	53	55					12																	121683003		2203	4300	6503	SO:0001583	missense	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1493A>G	12.37:g.121683003T>C	ENSP00000312741:p.Asn498Ser		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N498S	ENST00000324774.5	37	c.1493	CCDS9216.1	12	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726167	0.48833	.	.	ENSG00000110931	ENST00000392474;ENST00000347034;ENST00000538733;ENST00000337174;ENST00000324774;ENST00000545538;ENST00000412367;ENST00000404169;ENST00000360452;ENST00000446440;ENST00000392473	T;T;T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	4.93	4.93	0.64822	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.72576	2.205	0.80722	D	1	P;B;B;B;P;P;B;B	0.47191	0.891;0.155;0.155;0.254;0.891;0.582;0.159;0.155	P;B;B;B;P;B;B;B	0.55713	0.782;0.17;0.17;0.139;0.782;0.251;0.082;0.121	T	0.66500	-0.5908	10	0.66056	D	0.02	-6.743	13.7521	0.62915	0.0:0.0:0.0:1.0	.	455;498;498;285;455;455;498;498	Q96RR4-6;Q96RR4-2;Q96RR4-7;F5GZ00;Q96RR4-5;Q96RR4-4;Q96RR4;Q96RR4-3	.;.;.;.;.;.;KKCC2_HUMAN;.	S	498;455;455;498;498;285;498;498;481;455;498	ENSP00000376266:N498S;ENSP00000321230:N455S;ENSP00000445944:N455S;ENSP00000336634:N498S;ENSP00000312741:N498S;ENSP00000441352:N285S;ENSP00000388368:N498S;ENSP00000384600:N498S;ENSP00000388273:N455S;ENSP00000376265:N498S	ENSP00000312741:N498S	N	-	2	0	CAMKK2	120167386	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.630000	0.83225	1.856000	0.53863	0.459000	0.35465	AAC	CAMKK2	-	superfamily_Kinase-like_dom	ENSG00000110931		0.602	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1	-	0	26	0	T	NM_172226		121683003	-1	tier1	-	no_errors	ENST00000324774	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	C	C	121683003	T	C	121683003	3	2	87	1	0	0	0	0	1	0	0	0	2614	1725	60	4	295	4	CAMKK2	12	121683003	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	887337	121683003	12168892	1273	24397											
BCL7A	605	genome.wustl.edu	37	chr12	122492854	122492854	+	Intron	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcgctcgaggtctcagAggggcagccagatcggccgg	7	6	15	13	4	1	2	1	0	1	2	5	3	1	2	3	5	2	2	3	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:122492854A>C	ENST00000261822.4	+	5	767				BCL7A_ENST00000538010.1_Silent_p.R195R	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A						negative regulation of transcription, DNA-templated (GO:0045892)			p.R195R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GAGGTCTCAGAGGGGCAGCCA	0.557			T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(17;197 467 16477 23242 44349)			Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	1	Substitution - coding silent(1)	ovary(1)											71	76	74					12																	122492854		2203	4300	6503	SO:0001627	intron_variant	0			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987			1004	protein-coding gene	gene with protein product		601406		BCL7		8605326, 9931421	Standard	NM_020993		Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.561+22A>C	12.37:g.122492854A>C		1519	B4DJN6|B7ZB21|Q13843|Q14CT7	Silent	SNP	pfam_BCL7	p.R195	ENST00000261822.4	37	c.583	CCDS53841.1	12																																																																																			BCL7A	-	NULL	ENSG00000110987		0.557	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	BCL7A	HGNC	protein_coding	OTTHUMT00000401712.1	-	0	40	0	A			122492854	1	tier1	-	no_errors	ENST00000538010	ensembl	human	known	74_37	silent	13.21	46	7	SNP	0.075	C	C	122492854	A	C	122492854	1	2	87	0	1	0	0	0	0	0	0	0	1379	295	11	4		4	BCL7A	12	122492854	Intron	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	809851	122492854	11359041	1274	24398											
CLIP1	6249	genome.wustl.edu	37	chr12	122848621	122848621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagtcggtctccccaaGaaaccggactacaccagcct	12	5	9	15	2	1	1	0	0	1	1	3	2	1	2	5	3	3	1	5	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:122848621G>T	ENST00000540338.1	-	3	732	c.691C>A	c.(691-693)Ctt>Att	p.L231I	CLIP1_ENST00000545889.1_5'Flank|CLIP1_ENST00000537178.1_Missense_Mutation_p.L231I|CLIP1_ENST00000302528.7_Missense_Mutation_p.L231I|CLIP1_ENST00000358808.2_Missense_Mutation_p.L231I|CLIP1_ENST00000361654.4_Missense_Mutation_p.L231I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	231					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCTCCCCAAGAAACCGGACT	0.488																																																	0													124	92	103					12																	122848621		2203	4300	6503	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"restin"	179838	"restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.691C>A	12.37:g.122848621G>T	ENSP00000439093:p.Leu231Ile		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.L231I	ENST00000540338.1	37	c.691	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687050	0.48097	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.81	4.9	0.64082	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.89574	0.6754	N	0.11818	0.18	0.80722	D	1	D;D;D;P	0.61697	0.973;0.981;0.99;0.795	D;D;D;D	0.87578	0.951;0.998;0.996;0.946	D	0.89343	0.3655	10	0.40728	T	0.16	-8.4099	11.8325	0.52303	0.0677:0.1237:0.8086:0.0	.	231;231;231;231	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	231;231;76;231;231;231;231	ENSP00000303585:L231I;ENSP00000351665:L231I;ENSP00000445531:L231I;ENSP00000439093:L231I;ENSP00000437786:L231I;ENSP00000441409:L231I	ENSP00000303585:L231I	L	-	1	0	CLIP1	121414574	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	5.250000	0.65432	1.403000	0.46800	0.557000	0.71058	CTT	CLIP1	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain	ENSG00000130779		0.488	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	-	0	65	0	G	NM_002956		122848621	-1	tier1	-	no_errors	ENST00000540338	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.999	T	T	122848621	G	T	122848621	3	4	87	1	0	0	0	0	1	0	0	0	3539	942	33	3	3680	3	CLIP1	12	122848621	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	355767	122848621	11003274	1275	24399											
KNTC1	9735	genome.wustl.edu	37	chr12	123082350	123082350	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacaacacaaatgccggCcaaggccagggagatgcaag	14	3	11	13	1	0	1	0	0	0	1	1	2	1	1	4	3	3	1	4	3	4	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:123082350C>T	ENST00000333479.7	+	44	4605	c.4428C>T	c.(4426-4428)ggC>ggT	p.G1476G	KNTC1_ENST00000545065.1_3'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1476					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)		p.G1476G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CAAATGCCGGCCAAGGCCAGG	0.502																																																	1	Substitution - coding silent(1)	endometrium(1)											93	92	92					12																	123082350		2040	4202	6242	SO:0001819	synonymous_variant	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4428C>T	12.37:g.123082350C>T			A7E2C4|B3KSG2	Silent	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.G1476	ENST00000333479.7	37	c.4428	CCDS45002.1	12																																																																																			KNTC1	-	NULL	ENSG00000184445		0.502	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0	47	0	C			123082350	1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	silent	12.24	43	6	SNP	0.718	T	T	123082350	C	T	123082350	2	4	87	1	0	0	0	0	0	0	0	1	8455	726	26	3		3	KNTC1	12	123082350	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	233729	123082350	10769545	1276	24400											
SBNO1	55206	genome.wustl.edu	37	chr12	123798226	123798226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccataggagaatccaagtttAcaatggatttcatgacaatt	15	12	7	7	0	1	2	1	1	0	1	2	4	2	3	2	2	1	1	2	2	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:123798226A>G	ENST00000602398.1	-	24	3288	c.3161T>C	c.(3160-3162)gTa>gCa	p.V1054A	SBNO1_ENST00000267176.4_Missense_Mutation_p.V1053A|SBNO1_ENST00000602750.1_Missense_Mutation_p.V1053A|SBNO1_ENST00000420886.2_Missense_Mutation_p.V1054A			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1054					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATCCAAGTTTACAATGGATTT	0.318																																																	0													75	76	75					12																	123798226		2203	4300	6503	SO:0001583	missense	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"sno, strawberry notch homolog 1 (Drosophila)"				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3161T>C	12.37:g.123798226A>G	ENSP00000473665:p.Val1054Ala		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.V1054A	ENST00000602398.1	37	c.3161	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219930	0.79464	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.31510	1.49;1.49	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.28699	0.0711	N	0.20845	0.615	0.58432	D	0.999994	P;P;B	0.47034	0.889;0.865;0.004	P;P;B	0.51866	0.682;0.554;0.016	T	0.02781	-1.1111	10	0.07482	T	0.82	-18.2982	15.6824	0.77381	1.0:0.0:0.0:0.0	.	1054;1053;165	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	A	1054;1053	ENSP00000387361:V1054A;ENSP00000267176:V1053A	ENSP00000267176:V1053A	V	-	2	0	SBNO1	122364179	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.006000	0.93592	2.116000	0.64780	0.482000	0.46254	GTA	SBNO1	-	NULL	ENSG00000139697		0.318	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1		0	35	0	A	NM_018183		123798226	-1			no_errors	ENST00000420886	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G	G	123798226	A	G	123798226	3	3	87	1	0	0	0	0	1	0	0	0	13907	391	14	4	1056	4	SBNO1	12	123798226	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	715876	123798226	10053669	1277	24401											
DNAH10	196385	genome.wustl.edu	37	chr12	124272528	124272528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatatggccaccatctgccaGgacctctccgacgttctgca	8	10	8	15	2	3	0	0	0	3	0	4	2	3	1	5	2	2	2	5	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124272528G>T	ENST00000409039.3	+	10	1441	c.1416G>T	c.(1414-1416)caG>caT	p.Q472H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	472	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCATCTGCCAGGACCTCTCCG	0.617																																																	0													46	35	38					12																	124272528		2199	4297	6496	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1416G>T	12.37:g.124272528G>T	ENSP00000386770:p.Gln472His		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.Q472H	ENST00000409039.3	37	c.1416	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670129	0.29693	.	.	ENSG00000197653	ENST00000409039	T	0.54479	0.57	5.55	4.65	0.58169	Dynein heavy chain, domain-1 (1);	0.495399	0.18411	N	0.142045	T	0.45657	0.1353	L	0.54323	1.7	0.38776	D	0.954667	B	0.06786	0.001	B	0.11329	0.006	T	0.47611	-0.9104	10	0.44086	T	0.13	.	8.2262	0.31570	0.1911:0.0:0.8089:0.0	.	472	Q8IVF4	DYH10_HUMAN	H	472	ENSP00000386770:Q472H	ENSP00000386770:Q472H	Q	+	3	2	DNAH10	122838481	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	2.032000	0.41127	2.601000	0.87937	0.561000	0.74099	CAG	DNAH10	-	pfam_Dynein_heavy_dom-1	ENSG00000197653		0.617	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0	69	0	G			124272528	1			no_errors	ENST00000409039	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	124272528	G	T	124272528	3	4	87	1	0	0	0	0	1	0	0	0	4612	991	35	3	1454	3	DNAH10	12	124272528	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	474302	124272528	9579367	1278	24402											
DNAH10	196385	genome.wustl.edu	37	chr12	124325934	124325934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaaaaactggtgtccgcGatgatttcagcagaaggaga	14	7	14	6	2	1	4	1	1	0	3	2	7	2	4	1	3	2	1	1	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124325934G>A	ENST00000409039.3	+	29	4873	c.4848G>A	c.(4846-4848)gcG>gcA	p.A1616A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1616	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGTGTCCGCGATGATTTCAG	0.507																																																	0													238	239	238					12																	124325934		2022	4168	6190	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4848G>A	12.37:g.124325934G>A			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.A1616	ENST00000409039.3	37	c.4848	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy_dom-2	ENSG00000197653		0.507	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	48	0	G			124325934	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.995	A	A	124325934	G	A	124325934	2	1	87	1	0	0	0	0	0	0	0	1	4612	1045	37	1		1	DNAH10	12	124325934	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	53406	124325934	9525961	1279	24403											
CCDC92	80212	genome.wustl.edu	37	chr12	124422150	124422150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggcgatggtgctggcccGctgctccagctcgctagaca	6	8	14	13	3	0	1	0	0	0	1	2	2	1	1	2	3	3	6	2	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124422150G>A	ENST00000238156.3	-	5	805	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	RP11-380L11.3_ENST00000602292.1_RNA|DNAH10OS_ENST00000514254.2_5'Flank|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.R134W|CCDC92_ENST00000545135.1_Missense_Mutation_p.R134W	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	151						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGCTGGCCCGCTGCTCCAGC	0.617																																																	0													130	109	116					12																	124422150		2203	4300	6503	SO:0001583	missense	0			AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"limkain beta 2"					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.451C>T	12.37:g.124422150G>A	ENSP00000238156:p.Arg151Trp		B3KNQ0|Q9H697	Missense_Mutation	SNP	NULL	p.R151W	ENST00000238156.3	37	c.451	CCDS9256.1	12	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432965	0.62844	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.33865	1.39;1.41;1.41	5.56	5.56	0.83823	.	0.097811	0.64402	D	0.000002	T	0.62417	0.2426	M	0.82517	2.595	0.50313	D	0.99986	D	0.89917	1.0	D	0.77004	0.989	T	0.66810	-0.5829	10	0.72032	D	0.01	-2.757	13.5351	0.61643	0.0:0.0:0.7394:0.2606	.	151	Q53HC0	CCD92_HUMAN	W	151;134;134	ENSP00000238156:R151W;ENSP00000439526:R134W;ENSP00000440024:R134W	ENSP00000238156:R151W	R	-	1	2	CCDC92	122988103	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	2.733000	0.47360	2.615000	0.88500	0.555000	0.69702	CGG	CCDC92	-	NULL	ENSG00000119242		0.617	CCDC92-001	KNOWN	basic|CCDS	protein_coding	CCDC92	HGNC	protein_coding	OTTHUMT00000400780.2		0	39	0	G	NM_025140		124422150	-1			no_errors	ENST00000238156	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	124422150	G	A	124422150	3	1	87	1	0	0	0	0	1	0	0	0	2878	1086	38	1	548	1	CCDC92	12	124422150	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	96216	124422150	9429745	1280	24404											
NCOR2	9612	genome.wustl.edu	37	chr12	124821385	124821385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccgaggcaggtggcGccggcgggtccgggctggcg	3	3	22	13	7	0	0	0	0	0	0	1	2	1	0	4	8	0	2	4	8	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124821385G>A	ENST00000405201.1	-	38	6029	c.6029C>T	c.(6028-6030)gCg>gTg	p.A2010V	NCOR2_ENST00000356219.3_Missense_Mutation_p.A2017V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A2001V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A2000V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2000V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1571V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2021					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCAGGTGGCGCCGGCGGGTC	0.662																																																	0													31	38	36					12																	124821385		1978	4143	6121	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6029C>T	12.37:g.124821385G>A	ENSP00000384018:p.Ala2010Val		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.A2017V	ENST00000405201.1	37	c.6050	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	g	9.610	1.131020	0.21041	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.18657	2.2;2.47;2.2;2.47;2.21;2.46	4.25	4.25	0.50352	.	0.227351	0.36628	N	0.002481	T	0.09113	0.0225	N	0.14661	0.345	0.09310	N	0.999991	P;P;P	0.43314	0.703;0.803;0.703	B;B;B	0.28849	0.044;0.095;0.044	T	0.23655	-1.0182	10	0.34782	T	0.22	-34.8786	9.9637	0.41712	0.0998:0.0:0.9002:0.0	.	2001;2010;2021	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	V	2010;2000;2017;2001;2009;1571;102;2000	ENSP00000384018:A2010V;ENSP00000384202:A2000V;ENSP00000348551:A2017V;ENSP00000380513:A2001V;ENSP00000385618:A1571V;ENSP00000400281:A2000V	ENSP00000348551:A2017V	A	-	2	0	NCOR2	123387338	1.000000	0.71417	0.784000	0.31847	0.411000	0.31082	4.900000	0.63252	2.185000	0.69588	0.556000	0.70494	GCG	NCOR2	-	NULL	ENSG00000196498		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	35	0	G	NM_006312		124821385	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.365	A	A	124821385	G	A	124821385	3	1	87	1	0	0	0	0	1	0	0	0	10275	1087	38	1	1555	1	NCOR2	12	124821385	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	399235	124821385	9030510	1281	24405											
NCOR2	9612	genome.wustl.edu	37	chr12	124829303	124829303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgcaatggagcccccCgagctgctggcggtccctgg	4	5	15	17	5	0	0	0	0	0	0	1	2	1	1	5	4	3	3	5	4	1	0	rs551690182		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:124829303C>T	ENST00000405201.1	-	32	4554	c.4554G>A	c.(4552-4554)tcG>tcA	p.S1518S	NCOR2_ENST00000356219.3_Silent_p.S1525S|NCOR2_ENST00000397355.1_Silent_p.S1509S|NCOR2_ENST00000404621.1_Silent_p.S1508S|NCOR2_ENST00000429285.2_Silent_p.S1508S|NCOR2_ENST00000404121.2_Silent_p.S1079S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1526					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGAGCCCCCCGAGCTGCTGG	0.706													C|||	1	0.000199681	0	0	5008	,	,		13582	0		0	False		,,,				2504	0.001																0													4	7	6					12																	124829303		1722	3682	5404	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4554G>A	12.37:g.124829303C>T			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1525	ENST00000405201.1	37	c.4575	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.706	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	32	0	C	NM_006312		124829303	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	37.50	20	12	SNP	0.006	T	T	124829303	C	T	124829303	2	4	87	1	0	0	0	0	0	0	0	1	10275	639	23	1		1	NCOR2	12	124829303	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	7918	124829303	9022592	1282	24406											
TMEM132B	114795	genome.wustl.edu	37	chr12	126128809	126128809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaagggctggaggatccCggttgctgccaacagaaggt	10	7	15	9	1	1	1	1	0	0	1	2	4	2	3	2	5	3	3	2	5	3	1	rs554924533	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:126128809C>T	ENST00000299308.3	+	6	1618	c.1610C>T	c.(1609-1611)cCg>cTg	p.P537L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P49L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	537						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGAGGATCCCGGTTGCTGCC	0.572													C|||	2	0.000399361	8e-04	0	5008	,	,		18060	0.001		0	False		,,,				2504	0																0													45	48	47					12																	126128809		1939	4152	6091	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1610C>T	12.37:g.126128809C>T	ENSP00000299308:p.Pro537Leu		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.P537L	ENST00000299308.3	37	c.1610	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992711	0.74703	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.28895	1.59;1.59	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	T	0.61048	0.2316	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65298	-0.6202	10	0.87932	D	0	.	19.4324	0.94776	0.0:1.0:0.0:0.0	.	537	Q14DG7	T132B_HUMAN	L	537;49	ENSP00000299308:P537L;ENSP00000440436:P49L	ENSP00000299308:P537L	P	+	2	0	TMEM132B	124694762	1.000000	0.71417	0.968000	0.41197	0.347000	0.29111	5.787000	0.69013	2.578000	0.87016	0.655000	0.94253	CCG	TMEM132B	-	NULL	ENSG00000139364		0.572	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0	64	0	C	NM_052907		126128809	1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	24.68	58	19	SNP	1.000	T	T	126128809	C	T	126128809	3	4	87	1	0	0	0	0	1	0	0	0	16093	652	23	1	1632	1	TMEM132B	12	126128809	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1299506	126128809	7723086	1283	24407											
TMEM132D	121256	genome.wustl.edu	37	chr12	130184428	130184428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgtctcctttcctcaCggtctttggtatatagtgga	7	14	9	11	2	3	0	1	0	2	0	5	1	4	1	2	3	1	2	2	3	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:130184428C>T	ENST00000422113.2	-	2	1221	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	299					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTTCCTCACGGTCTTTGGT	0.493																																																	0													121	114	116					12																	130184428		2203	4300	6503	SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.895G>A	12.37:g.130184428C>T	ENSP00000408581:p.Val299Met		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.V299M	ENST00000422113.2	37	c.895	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056980	0.55325	.	.	ENSG00000151952	ENST00000422113	T	0.12569	2.67	5.47	5.47	0.80525	.	0.318671	0.25738	N	0.028626	T	0.36220	0.0959	M	0.83223	2.63	0.09310	N	1	D	0.63880	0.993	P	0.54270	0.747	T	0.24941	-1.0146	9	.	.	.	-16.7599	19.3444	0.94357	0.0:1.0:0.0:0.0	.	299	Q14C87	T132D_HUMAN	M	299	ENSP00000408581:V299M	.	V	-	1	0	TMEM132D	128750381	0.016000	0.18221	0.005000	0.12908	0.006000	0.05464	2.579000	0.46059	2.542000	0.85734	0.650000	0.86243	GTG	TMEM132D	-	NULL	ENSG00000151952		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1		0	50	0	C	NM_133448		130184428	-1			no_errors	ENST00000422113	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.014	T	T	130184428	C	T	130184428	3	4	87	1	0	0	0	0	1	0	0	0	16094	536	19	1	2436	1	TMEM132D	12	130184428	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4055619	130184428	3667467	1284	24408											
RIMBP2	23504	genome.wustl.edu	37	chr12	130926638	130926638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgggcggagatctgcGtgatgttgtccacccgcagg	7	8	16	10	3	1	3	0	1	1	2	2	4	2	3	2	3	2	3	2	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:130926638G>A	ENST00000261655.4	-	8	1371	c.1208C>T	c.(1207-1209)aCg>aTg	p.T403M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T311M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T311M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	403	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGAGATCTGCGTGATGTTGTC	0.637																																																	0													102	77	85					12																	130926638		2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1208C>T	12.37:g.130926638G>A	ENSP00000261655:p.Thr403Met		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.T403M	ENST00000261655.4	37	c.1208	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	g	18.61	3.661600	0.67700	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.57436	0.4;0.4;0.4	4.23	4.23	0.50019	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73218	0.3559	M	0.77486	2.375	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.959;0.982;0.996	T	0.78874	-0.2032	10	0.87932	D	0	-25.6129	16.6129	0.84899	0.0:0.0:1.0:0.0	.	311;311;403	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	403;311;311;311	ENSP00000261655:T403M;ENSP00000440347:T311M;ENSP00000439159:T311M	ENSP00000261655:T403M	T	-	2	0	RIMBP2	129492591	1.000000	0.71417	0.971000	0.41717	0.831000	0.47069	6.756000	0.74919	1.867000	0.54127	0.537000	0.68136	ACG	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.637	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0	56	0	G	NM_015347		130926638	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	29.41	24	10	SNP	0.998	A	A	130926638	G	A	130926638	3	1	87	1	0	0	0	0	1	0	0	0	13408	1145	40	1	1998	1	RIMBP2	12	130926638	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	742210	130926638	2925257	1285	24409											
RAN	5901	genome.wustl.edu	37	chr12	131360212	131360212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaagcccttcctctggcTtgctaggaagctcattggag	9	11	11	10	0	2	1	1	1	1	0	3	3	3	3	2	3	3	3	2	3	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:131360212T>G	ENST00000543796.1	+	6	749	c.491T>G	c.(490-492)cTt>cGt	p.L164R	RAN_ENST00000254675.3_Missense_Mutation_p.L76R|RAN_ENST00000392369.2_Missense_Mutation_p.L164R|RAN_ENST00000392367.3_Missense_Mutation_p.L181R|RAN_ENST00000541630.1_Missense_Mutation_p.L76R			P62826	RAN_HUMAN	RAN, member RAS oncogene family	164					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TTCCTCTGGCTTGCTAGGAAG	0.408																																																	0													54	55	54					12																	131360212		2203	4300	6503	SO:0001583	missense	0			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.491T>G	12.37:g.131360212T>G	ENSP00000446215:p.Leu164Arg		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L164R	ENST00000543796.1	37	c.491	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081216	0.76528	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000541630;ENST00000392369;ENST00000254675;ENST00000535090;ENST00000392367	D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.94555	0.8246	H	0.97214	3.96	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	D	0.95674	0.8726	10	0.87932	D	0	-20.1153	12.2939	0.54833	0.0:0.0:0.0:1.0	.	164;164	A8K3Z8;P62826	.;RAN_HUMAN	R	164;182;76;164;76;160;181	ENSP00000446215:L164R;ENSP00000396127:L182R;ENSP00000441210:L76R;ENSP00000376176:L164R;ENSP00000254675:L76R;ENSP00000444042:L160R;ENSP00000376174:L181R	ENSP00000254675:L76R	L	+	2	0	RAN	129926165	1.000000	0.71417	0.994000	0.49952	0.851000	0.48451	7.590000	0.82653	1.554000	0.49487	0.460000	0.39030	CTT	RAN	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000132341		0.408	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2	-	0	78	0	T	NM_006325		131360212	1	tier1	-	no_errors	ENST00000392369	ensembl	human	known	74_37	missense	25.64	57	20	SNP	1.000	G	G	131360212	T	G	131360212	3	3	87	1	0	0	0	0	1	0	0	0	13069	1609	56	4	509	4	RAN	12	131360212	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	433574	131360212	2491683	1286	24410											
EP400	57634	genome.wustl.edu	37	chr12	132497561	132497561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgtgctgcaggagtgggCcgaacccaacagcttccacg	8	7	12	14	2	1	0	0	0	1	0	2	2	2	1	3	2	5	3	3	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:132497561C>G	ENST00000333577.4	+	18	3666	c.3557C>G	c.(3556-3558)gCc>gGc	p.A1186G	EP400_ENST00000389561.2_Missense_Mutation_p.A1150G|EP400_ENST00000389562.2_Missense_Mutation_p.A1149G|EP400_ENST00000330386.6_Missense_Mutation_p.A1150G|EP400_ENST00000332482.4_Missense_Mutation_p.A1113G			Q96L91	EP400_HUMAN	E1A binding protein p400	1186	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGTGGGCCGAACCCAAC	0.562																																																	0													91	73	79					12																	132497561		2203	4300	6503	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3557C>G	12.37:g.132497561C>G	ENSP00000333602:p.Ala1186Gly		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1186G	ENST00000333577.4	37	c.3557		12	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061341	0.19987	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	5.27	5.27	0.74061	.	0.996974	0.08135	N	0.992565	D	0.87589	0.6215	N	0.17248	0.465	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.76782	-0.2832	10	0.72032	D	0.01	.	8.3237	0.32145	0.1556:0.7661:0.0:0.0783	.	1150;1150;1149	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	G	1186;1150;1149;1113;1150;1150;1150	ENSP00000333602:A1186G;ENSP00000374212:A1150G;ENSP00000374213:A1149G;ENSP00000331737:A1113G;ENSP00000330620:A1150G	ENSP00000330620:A1150G	A	+	2	0	EP400	131063514	0.000000	0.05858	0.353000	0.25747	0.887000	0.51463	0.218000	0.17622	2.443000	0.82685	0.549000	0.68633	GCC	EP400	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000183495		0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0	48	0	C	NM_015409		132497561	1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.030	G	G	132497561	C	G	132497561	3	3	87	1	0	0	0	0	1	0	0	0	5165	739	26	5	3508	5	EP400	12	132497561	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1137349	132497561	1354334	1287	24411											
POLE	5426	genome.wustl.edu	37	chr12	133219301	133219301	+	Frame_Shift_Del	DEL	C	C	-																															tgaacagcgatgagtgtgggCccccggcgctcctcctgggt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:133219301delC	ENST00000320574.5	-	37	4786	c.4743delG	c.(4741-4743)gggfs	p.G1581fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.G1554fs|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1581					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGAGTGTGGGCCCCCGGCGCT	0.577								DNA polymerases (catalytic subunits)																																									0													50	56	54					12																	133219301		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4743delG	12.37:g.133219301delC	ENSP00000322570:p.Gly1581fs		Q13533|Q86VH9	Frame_Shift_Del	DEL	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.T1583fs	ENST00000320574.5	37	c.4743	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA_pol_e_suA_C	ENSG00000177084		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2		0	26	0	C	NM_006231		133219301	-1	tier1		no_errors	ENST00000320574	ensembl	human	known	74_37	frame_shift_del	13.04	20	3	DEL	0.930	-	-	133219301	C	-	133219301	7	5	87	1	0	1	0	1	0	0	0	0	12235	726	26	0	2169	0	POLE	12	133219301	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	721740	133219301	632594	1288	24412											
POLE	5426	genome.wustl.edu	37	chr12	133241907	133241907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgcgcatgacatagcCatagaaggagttcaggatgc	11	8	11	11	1	1	2	1	1	0	1	1	4	1	4	3	2	3	2	3	2	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr12:133241907C>A	ENST00000320574.5	-	21	2492	c.2449G>T	c.(2449-2451)Ggc>Tgc	p.G817C	POLE_ENST00000535270.1_Missense_Mutation_p.G790C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	817					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGACATAGCCATAGAAGGAG	0.602								DNA polymerases (catalytic subunits)																																									0													115	101	106					12																	133241907		2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2449G>T	12.37:g.133241907C>A	ENSP00000322570:p.Gly817Cys		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.G817C	ENST00000320574.5	37	c.2449	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.653543	0.88056	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07	5.65	5.65	0.86999	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	D	0.95332	0.8485	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96321	0.9236	10	0.87932	D	0	.	19.7754	0.96389	0.0:1.0:0.0:0.0	.	790;817	F5H1D6;Q07864	.;DPOE1_HUMAN	C	817;828;790;597;752	ENSP00000322570:G817C;ENSP00000406383:G828C;ENSP00000445753:G790C;ENSP00000442519:G597C	ENSP00000322570:G817C	G	-	1	0	POLE	131751980	1.000000	0.71417	0.990000	0.47175	0.803000	0.45373	7.770000	0.85390	2.679000	0.91253	0.567000	0.79289	GGC	POLE	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	44	0	C	NM_006231		133241907	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	A	A	133241907	C	A	133241907	3	1	87	1	0	0	0	0	1	0	0	0	12235	594	21	3	4527	3	POLE	12	133241907	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	22606	133241907	609988	1289	24413											
ZMYM2	7750	genome.wustl.edu	37	chr13	20657094	20657094	+	Frame_Shift_Del	DEL	A	A	-																															gcactgtgtttaggcattggAaaaaaaatcctttaacgatg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:20657094delA	ENST00000382874.2	+	24	3932	c.3742delA	c.(3742-3744)aaafs	p.K1249fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.K1249fs|ZMYM2_ENST00000382869.3_Frame_Shift_Del_p.K1249fs|ZMYM2_ENST00000494061.2_3'UTR	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAGGCATTGGAAAAAAAATCC	0.363																																																	0													99	92	94					13																	20657094		1859	4096	5955	SO:0001589	frameshift_variant	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"Zinc fingers, MYM type"	12989	protein-coding gene	gene with protein product		602221	"zinc finger protein 198"	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3742delA	13.37:g.20657094delA	ENSP00000372327:p.Lys1249fs		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.N1250fs	ENST00000382874.2	37	c.3742	CCDS45016.1	13																																																																																			ZMYM2	-	pfam_DUF3504	ENSG00000121741		0.363	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2		0	46	0	A	NM_003453		20657094	1	tier1		no_errors	ENST00000382869	ensembl	human	known	74_37	frame_shift_del	32.00	34	16	DEL	1.000	-	-	20657094	A	-	20657094	7	5	87	1	0	1	0	1	0	0	0	0	17748	247	9	0	3824	0	ZMYM2	13	20657094	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09		20657094	94512784	1290	24414											
GJB6	10804	genome.wustl.edu	37	chr13	20797451	20797451	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatttttgcatcccggttGcagtgtgttgcagacgaagt	8	13	11	9	2	0	1	0	0	0	1	1	2	1	1	1	1	3	5	1	1	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:20797451G>A	ENST00000356192.6	-	5	789	c.169C>T	c.(169-171)Caa>Taa	p.Q57*	GJB6_ENST00000400065.3_Nonsense_Mutation_p.Q57*|GJB6_ENST00000400066.3_Nonsense_Mutation_p.Q57*|GJB6_ENST00000241124.6_Nonsense_Mutation_p.Q57*	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	57					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		CATCCCGGTTGCAGTGTGTTG	0.557																																																	0													113	89	97					13																	20797451		2203	4300	6503	SO:0001587	stop_gained	0			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"Ion channels / Gap junction proteins (connexins)"	4288	protein-coding gene	gene with protein product	"connexin 30"	604418	"ectodermal dysplasia 2, hidrotic (Clouston syndrome)", "gap junction protein, beta 6 (connexin 30)", "gap junction protein, beta 6"	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.169C>T	13.37:g.20797451G>A	ENSP00000348521:p.Gln57*		B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Nonsense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.Q57*	ENST00000356192.6	37	c.169	CCDS9291.1	13	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904459	0.92035	.	.	ENSG00000121742	ENST00000241124;ENST00000400065;ENST00000400066;ENST00000356192	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1613	0.93533	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	ENSP00000241124:Q57X	Q	-	1	0	GJB6	19695451	1.000000	0.71417	0.955000	0.39395	0.063000	0.16089	9.807000	0.99171	2.507000	0.84556	0.655000	0.94253	CAA	GJB6	-	pfam_Connexin_N,smart_Connexin_N,prints_Connexin	ENSG00000121742		0.557	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB6	HGNC	protein_coding	OTTHUMT00000272906.1	-	0	41	0	G			20797451	-1	tier1	-	no_errors	ENST00000241124	ensembl	human	known	74_37	nonsense	10.64	42	5	SNP	1.000	A	A	20797451	G	A	20797451	4	1	87	1	0	0	0	0	0	1	0	0	6438	1328	46	3	620	3	GJB6	13	20797451	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	140357	20797451	94372427	1291	24415											
SACS	26278	genome.wustl.edu	37	chr13	23909409	23909409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagaaagaggcaaaaaaCagaaggccctatggggtttt	17	6	11	7	0	0	3	0	0	0	3	0	3	0	3	2	4	1	2	2	4	7	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:23909409C>G	ENST00000382292.3	-	9	8879	c.8606G>C	c.(8605-8607)tGt>tCt	p.C2869S	SACS_ENST00000402364.1_Missense_Mutation_p.C2119S|SACS_ENST00000382298.3_Missense_Mutation_p.C2869S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2869					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGCAAAAAACAGAAGGCCCT	0.458																																																	0													55	59	58					13																	23909409		2203	4299	6502	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8606G>C	13.37:g.23909409C>G	ENSP00000371729:p.Cys2869Ser		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.C2869S	ENST00000382292.3	37	c.8606	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749271	0.89753	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.92699	-2.73;-3.09;-2.73	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.93743	0.8000	L	0.39898	1.24	0.58432	D	0.99999	D	0.67145	0.996	D	0.67382	0.951	D	0.92184	0.5754	10	0.28530	T	0.3	.	19.1639	0.93546	0.0:1.0:0.0:0.0	.	2869	Q9NZJ4	SACS_HUMAN	S	2869;2119;2869	ENSP00000371729:C2869S;ENSP00000385844:C2119S;ENSP00000371735:C2869S	ENSP00000371729:C2869S	C	-	2	0	SACS	22807409	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	7.487000	0.81328	2.525000	0.85131	0.555000	0.69702	TGT	SACS	-	NULL	ENSG00000151835		0.458	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	27	0	C	NM_014363		23909409	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	G	G	23909409	C	G	23909409	3	3	87	1	0	0	0	0	1	0	0	0	13849	478	17	5	5137	5	SACS	13	23909409	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3111958	23909409	91260469	1292	24416											
C1QTNF9	338872	genome.wustl.edu	37	chr13	24895248	24895248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgggagagaagggcctccGaggagagactgggcctcagg	10	4	18	9	1	1	2	1	0	0	2	2	7	2	4	3	5	0	0	3	5	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:24895248G>A	ENST00000382071.2	+	4	429	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.R115Q			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	115	Collagen-like 2.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGGCCTCCGAGGAGAGACT	0.602																																																	0													29	16	21					13																	24895248		1957	3195	5152	SO:0001583	missense	0			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.344G>A	13.37:g.24895248G>A	ENSP00000371503:p.Arg115Gln		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R115Q	ENST00000382071.2	37	c.344	CCDS9306.1	13	.	.	.	.	.	.	.	.	.	.	N	4.025	0.002136	0.07819	.	.	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.93307	-3.2;-3.2	3.96	-7.92	0.01160	.	0.629833	0.16057	N	0.231668	T	0.80793	0.4691	N	0.17474	0.49	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.66464	-0.5917	9	.	.	.	.	7.1434	0.25568	0.4021:0.3033:0.2946:0.0	.	115	P0C862	C1T9A_HUMAN	Q	115	ENSP00000371503:R115Q;ENSP00000333737:R115Q	.	R	+	2	0	C1QTNF9	23793248	0.007000	0.16637	0.000000	0.03702	0.028000	0.11728	0.866000	0.27954	-2.605000	0.00448	-1.423000	0.01107	CGA	C1QTNF9	-	pfam_Collagen	ENSG00000240654		0.602	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9	HGNC	protein_coding	OTTHUMT00000044177.1	-	0	53	0	G	NM_178540		24895248	1	tier1	-	no_errors	ENST00000332018	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.001	A	A	24895248	G	A	24895248	3	1	87	1	0	0	0	0	1	0	0	0	1977	1058	37	1	354	1	C1QTNF9	13	24895248	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	985839	24895248	90274630	1293	24417											
FLT3	2322	genome.wustl.edu	37	chr13	28608066	28608066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattgagactcctgtttTgctaattccataagctgttg	8	16	9	8	0	0	1	0	1	0	1	2	3	2	2	2	1	2	4	2	1	2	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:28608066T>C	ENST00000241453.7	-	15	1981	c.1900A>G	c.(1900-1902)Aaa>Gaa	p.K634E	FLT3_ENST00000537084.1_Missense_Mutation_p.K634E|FLT3_ENST00000380982.4_Missense_Mutation_p.K634E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	634	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTCCTGTTTTGCTAATTCCA	0.428			"Mis, O"		"AML, ALL"																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													275	246	256					13																	28608066		2203	4300	6503	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1900A>G	13.37:g.28608066T>C	ENSP00000241453:p.Lys634Glu		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K634E	ENST00000241453.7	37	c.1900	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	T	12.23	1.875145	0.33162	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.89050	-2.46;-2.46;-2.46	5.71	2.94	0.34122	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.156946	0.44483	D	0.000453	T	0.77011	0.4068	N	0.13098	0.295	0.38373	D	0.944911	B;B	0.18310	0.027;0.004	B;B	0.19148	0.024;0.011	T	0.70443	-0.4870	10	0.35671	T	0.21	.	7.7387	0.28829	0.0:0.1205:0.1307:0.7488	.	634;634	P36888-2;P36888	.;FLT3_HUMAN	E	634	ENSP00000241453:K634E;ENSP00000370369:K634E;ENSP00000438139:K634E	ENSP00000241453:K634E	K	-	1	0	FLT3	27506066	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.963000	0.49184	0.975000	0.38392	0.528000	0.53228	AAA	FLT3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000122025		0.428	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	-	0	64	0	T			28608066	-1	tier1	-	no_errors	ENST00000380982	ensembl	human	known	74_37	missense	16.98	44	9	SNP	1.000	C	C	28608066	T	C	28608066	3	2	87	1	0	0	0	0	1	0	0	0	5964	1821	63	4	1121	4	FLT3	13	28608066	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3712818	28608066	86561812	1294	24418											
C13orf33	84935	genome.wustl.edu	37	chr13	31480852	31480852	+	Frame_Shift_Del	DEL	G	G	-																															cggggagccggcggcggcgcGggggggcttcaacgtcttcg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:31480852delG	ENST00000380482.4	+	1	525	c.200delG	c.(199-201)cggfs	p.R67fs	TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA	NM_032849.3	NP_116238	Q5VYS4	MEDAG_HUMAN	mesenteric estrogen-dependent adipogenesis	67					positive regulation of fat cell differentiation (GO:0045600)	cytoplasm (GO:0005737)											gcggcggcgcgggggggcTTC	0.736																																																	0										13,20,3049		2,0,9,8,4,1518	3	4	4			3	0.5	13		4	17,36,6449		0,0,17,11,14,3209	no	codingComplex	C13orf33	NM_032849.3		2,0,26,19,18,4727	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8151,1.0707,0.8973			31480852	30,56,9498	1780	3696	5476	SO:0001589	frameshift_variant	0			AB055407	CCDS9338.1	13q12.3	2013-10-11	2012-09-26	2012-09-26	ENSG00000102802	ENSG00000102802			25926	protein-coding gene	gene with protein product	"mesenteric estrogen-dependent adipose 4", "activated in W/Wv mouse stomach 3 homolog"		"chromosome 13 open reading frame 33"	C13orf33		22510272	Standard	NM_032849		Approved	FLJ14834, AWMS3, MEDA-4	uc001uth.4	Q5VYS4	OTTHUMG00000016679	ENST00000380482.4:c.200delG	13.37:g.31480852delG	ENSP00000369849:p.Arg67fs		Q8IXF1|Q96K26|Q96NC8	Frame_Shift_Del	DEL	NULL	p.G69fs	ENST00000380482.4	37	c.200	CCDS9338.1	13																																																																																			MEDAG	-	NULL	ENSG00000102802		0.736	MEDAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEDAG	HGNC	protein_coding	OTTHUMT00000044375.1		0	10	0	G	NM_032849		31480852	1	tier1		no_errors	ENST00000380482	ensembl	human	known	74_37	frame_shift_del	50.00	5	5	DEL	0.590	-	-	31480852	G	-	31480852	7	5	87	1	0	1	0	1	0	0	0	0	1732	1116	39	0	202	0	C13orf33	13	31480852	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	2872786	31480852	83689026	1295	24419											
HSPH1	10808	genome.wustl.edu	37	chr13	31729669	31729670	+	Frame_Shift_Ins	INS	-	-	T																															cctttattccaactccaccaINStttttcaatggaaccaaatc																								rs374931244		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:31729669_31729670insT	ENST00000320027.5	-	3	631_632	c.287_288insA	c.(286-288)aatfs	p.N96fs	HSPH1_ENST00000445273.2_Frame_Shift_Ins_p.N98fs|HSPH1_ENST00000380405.4_Frame_Shift_Ins_p.N96fs|HSPH1_ENST00000429785.2_De_novo_Start_OutOfFrame|HSPH1_ENST00000380406.5_Frame_Shift_Ins_p.N96fs	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	96					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CAACTCCACCATTTTTCAATGG	0.317																																																	0																																										SO:0001589	frameshift_variant	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"Heat shock proteins / HSP70"	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.288dupA	13.37:g.31729674_31729674dupT	ENSP00000318687:p.Asn96fs		B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Frame_Shift_Ins	INS	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.N98fs	ENST00000320027.5	37	c.294_293	CCDS9340.1	13																																																																																			HSPH1	-	pfam_Hsp_70_fam	ENSG00000120694		0.317	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1		0	42	0	-			31729670	-1	tier1		no_errors	ENST00000445273	ensembl	human	known	74_37	frame_shift_ins	23.81	32	10	INS	1.000:1.000	T	T	31729670	-	T	31729669	7	5	87	1	0	1	1	0	0	0	0	0	7458	214	8	0	2352	0	HSPH1	13	31729669	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	248817	31729669	83440209	1296	24420											
RXFP2	122042	genome.wustl.edu	37	chr13	32376432	32376432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaattttcaaaattaaaAaaaaaagtttatctacatcc	21	13	1	6	0	3	0	2	0	1	0	4	0	4	0	1	0	1	1	1	0	11	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:32376432A>C	ENST00000298386.2	+	18	2226	c.2155A>C	c.(2155-2157)Aaa>Caa	p.K719Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.K695Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	719					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CAAAATTAAAAAAAAAAGTTT	0.348																																																	0													107	117	114					13																	32376432		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2155A>C	13.37:g.32376432A>C	ENSP00000298386:p.Lys719Gln		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.K719Q	ENST00000298386.2	37	c.2155	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	A	2.322	-0.355300	0.05138	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72505	-0.66;-0.58	5.78	5.78	0.91487	.	0.411631	0.25197	N	0.032407	T	0.56441	0.1985	L	0.35414	1.06	0.21256	N	0.999742	B;B	0.23735	0.09;0.09	B;B	0.24006	0.05;0.05	T	0.42050	-0.9474	10	0.12766	T	0.61	.	10.1437	0.42751	0.922:0.0:0.078:0.0	.	695;719	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Q	695;719	ENSP00000369670:K695Q;ENSP00000298386:K719Q	ENSP00000298386:K719Q	K	+	1	0	RXFP2	31274432	0.700000	0.27796	0.941000	0.38009	0.733000	0.41908	2.107000	0.41844	2.220000	0.72140	0.533000	0.62120	AAA	RXFP2	-	NULL	ENSG00000133105		0.348	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0	54	0	A	NM_130806		32376432	1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.948	C	C	32376432	A	C	32376432	3	2	87	1	0	0	0	0	1	0	0	0	13805	15	1	4	2225	4	RXFP2	13	32376432	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	646763	32376432	82793446	1297	24421											
STARD13	90627	genome.wustl.edu	37	chr13	33703975	33703975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaccaggccacctgtcCgcccagaccccttatgcctc	7	8	7	19	1	1	2	1	1	0	1	3	2	2	2	8	1	1	0	8	1	1	1	rs374836026		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:33703975C>A	ENST00000336934.5	-	5	955	c.839G>T	c.(838-840)cGg>cTg	p.R280L	STARD13_ENST00000399365.3_Missense_Mutation_p.R162L|STARD13_ENST00000255486.4_Missense_Mutation_p.R272L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	280					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.R280L(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCCACCTGTCCGCCCAGACCC	0.542																																																	2	Substitution - Missense(2)	lung(2)											92	89	90					13																	33703975		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	19164	protein-coding gene	gene with protein product		609866	"START domain containing 13", "long intergenic non-protein coding RNA 464"	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.839G>T	13.37:g.33703975C>A	ENSP00000338785:p.Arg280Leu		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.R280L	ENST00000336934.5	37	c.839	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002618	0.74932	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06449	3.3;3.3;3.31	5.81	4.96	0.65561	.	0.212430	0.40728	N	0.001023	T	0.13543	0.0328	M	0.65975	2.015	0.80722	D	1	P;P;B;B	0.49783	0.928;0.638;0.18;0.393	P;B;B;B	0.47299	0.543;0.332;0.081;0.168	T	0.01363	-1.1374	10	0.48119	T	0.1	.	14.8827	0.70545	0.0:0.9312:0.0:0.0688	.	272;245;280;272	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	162;272;280;272	ENSP00000382300:R162L;ENSP00000255486:R272L;ENSP00000338785:R280L	ENSP00000255486:R272L	R	-	2	0	STARD13	32601975	0.961000	0.32948	0.883000	0.34634	0.940000	0.58332	1.428000	0.34892	1.459000	0.47892	0.655000	0.94253	CGG	STARD13	-	NULL	ENSG00000133121		0.542	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2	-	0	45	0	C	NM_001243466		33703975	-1	tier1	-	no_errors	ENST00000336934	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.835	A	A	33703975	C	A	33703975	3	1	87	1	0	0	0	0	1	0	0	0	15303	652	23	2	2542	2	STARD13	13	33703975	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1327543	33703975	81465903	1298	24422											
NBEA	26960	genome.wustl.edu	37	chr13	35644864	35644864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttggacataggatgtgaaAgcgatagtaacacattcaat	15	12	9	5	1	1	1	1	1	0	0	1	4	1	3	0	2	2	1	0	2	5	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:35644864A>C	ENST00000400445.3	+	10	1980	c.1446A>C	c.(1444-1446)aaA>aaC	p.K482N	NBEA_ENST00000379939.2_Missense_Mutation_p.K482N|NBEA_ENST00000540320.1_Missense_Mutation_p.K482N|NBEA_ENST00000310336.4_Missense_Mutation_p.K482N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	482					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGATGTGAAAGCGATAGTAA	0.308																																																	0													73	76	75					13																	35644864		2203	4300	6503	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.1446A>C	13.37:g.35644864A>C	ENSP00000383295:p.Lys482Asn		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.K482N	ENST00000400445.3	37	c.1446	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	7.035	0.561333	0.13498	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.23	2.79	0.32731	.	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	L	0.31578	0.945	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.61840	-0.6980	10	0.45353	T	0.12	.	9.7302	0.40357	0.8587:0.0:0.1413:0.0	.	482	Q5T321	.	N	482	ENSP00000440951:K482N;ENSP00000383295:K482N;ENSP00000369271:K482N;ENSP00000308534:K482N	ENSP00000308534:K482N	K	+	3	2	NBEA	34542864	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	1.935000	0.40173	0.409000	0.25649	-0.991000	0.02546	AAA	NBEA	-	NULL	ENSG00000172915		0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	170	0	A	NM_015678		35644864	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	27.98	120	47	SNP	1.000	C	C	35644864	A	C	35644864	3	2	87	1	0	0	0	0	1	0	0	0	10225	69	3	4	1484	4	NBEA	13	35644864	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1940889	35644864	79525014	1299	24423											
NBEA	26960	genome.wustl.edu	37	chr13	36158057	36158057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattggtgctttgaaccccaAgagagctgtgttttatgcag	10	13	11	7	0	0	2	0	1	0	1	0	3	0	2	2	1	4	4	2	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:36158057A>G	ENST00000400445.3	+	46	7592	c.7058A>G	c.(7057-7059)aAg>aGg	p.K2353R	NBEA_ENST00000379939.2_Missense_Mutation_p.K2350R|NBEA_ENST00000310336.4_Missense_Mutation_p.K2353R|NBEA_ENST00000537702.1_Missense_Mutation_p.K146R|NBEA_ENST00000540320.1_Missense_Mutation_p.K2353R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2353	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTGAACCCCAAGAGAGCTGTG	0.323																																																	0													119	111	114					13																	36158057		1817	4082	5899	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7058A>G	13.37:g.36158057A>G	ENSP00000383295:p.Lys2353Arg		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.K2353R	ENST00000400445.3	37	c.7058	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552575	0.86127	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.64	5.64	0.86602	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	L	0.55743	1.74	0.80722	D	1	B;B	0.19073	0.033;0.033	B;B	0.29716	0.106;0.106	T	0.58967	-0.7542	10	0.41790	T	0.15	.	15.8686	0.79091	1.0:0.0:0.0:0.0	.	2353;2350	Q8NFP9;Q5T321	NBEA_HUMAN;.	R	2353;2353;2350;2353;980;146;146	ENSP00000440951:K2353R;ENSP00000383295:K2353R;ENSP00000369271:K2350R;ENSP00000308534:K2353R;ENSP00000440233:K146R	ENSP00000308534:K2353R	K	+	2	0	NBEA	35056057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.930000	0.92872	2.152000	0.67230	0.528000	0.53228	AAG	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.323	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	36	0	A	NM_015678		36158057	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	G	G	36158057	A	G	36158057	3	3	87	1	0	0	0	0	1	0	0	0	10225	72	3	4	7240	4	NBEA	13	36158057	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	513193	36158057	79011821	1300	24424											
DCLK1	9201	genome.wustl.edu	37	chr13	36445420	36445421	+	Frame_Shift_Ins	INS	-	-	T																															tcctgggctcttggtggtgcINStcctgcgggatgatgaagct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:36445420_36445421insT	ENST00000360631.3	-	5	1091_1092	c.880_881insA	c.(880-882)agcfs	p.S294fs	DCLK1_ENST00000379892.4_Frame_Shift_Ins_p.S294fs|DCLK1_ENST00000255448.4_Frame_Shift_Ins_p.S294fs			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	294	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTGGTGGTGCTCCTGCGGGAT	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.881dupA	13.37:g.36445421_36445421dupT	ENSP00000353846:p.Ser294fs		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.S294fs	ENST00000360631.3	37	c.881_880		13																																																																																			DCLK1	-	NULL	ENSG00000133083		0.505	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1		0	46	0	-	NM_004734		36445421	-1	tier1		no_errors	ENST00000360631	ensembl	human	known	74_37	frame_shift_ins	15.38	33	6	INS	1.000:1.000	T	T	36445421	-	T	36445420	7	5	87	1	0	1	1	0	0	0	0	0	4300	797	28	0	1364	0	DCLK1	13	36445420	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	287363	36445420	78724458	1301	24425											
DCLK1	9201	genome.wustl.edu	37	chr13	36699950	36699950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgagcccatcaatggtgtAgattgttctcactccctggg	7	13	10	11	0	2	2	2	1	1	1	4	2	3	2	2	2	1	2	2	2	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:36699950A>G	ENST00000360631.3	-	2	536	c.325T>C	c.(325-327)Tac>Cac	p.Y109H	DCLK1_ENST00000379892.4_Missense_Mutation_p.Y109H|DCLK1_ENST00000255448.4_Missense_Mutation_p.Y109H			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	109	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCAATGGTGTAGATTGTTCTC	0.542																																																	0													90	87	88					13																	36699950		2203	4300	6503	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.325T>C	13.37:g.36699950A>G	ENSP00000353846:p.Tyr109His		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.Y109H	ENST00000360631.3	37	c.325		13	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525843	0.85600	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.94723	-3.5;-3.5;-3.5	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.96583	0.8885	M	0.89163	3.01	0.80722	D	1	B	0.26602	0.154	B	0.41917	0.37	D	0.96052	0.9032	10	0.87932	D	0	.	15.9941	0.80228	1.0:0.0:0.0:0.0	.	109	O15075-2	.	H	109	ENSP00000255448:Y109H;ENSP00000353846:Y109H;ENSP00000369222:Y109H	ENSP00000255448:Y109H	Y	-	1	0	DCLK1	35597950	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.127000	0.94417	2.179000	0.69175	0.533000	0.62120	TAC	DCLK1	-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000133083		0.542	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0	67	0	A	NM_004734		36699950	-1	tier1	-	no_errors	ENST00000360631	ensembl	human	known	74_37	missense	34.15	27	14	SNP	1.000	G	G	36699950	A	G	36699950	3	3	87	1	0	0	0	0	1	0	0	0	4300	420	15	4	1932	4	DCLK1	13	36699950	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	254530	36699950	78469928	1302	24426											
POSTN	10631	genome.wustl.edu	37	chr13	38154786	38154786	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgaatcgcaccgtttcTcccttgcttactccctttct	5	17	5	14	2	2	1	0	1	2	0	5	1	3	1	3	0	2	3	3	0	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:38154786T>C	ENST00000379747.4	-	11	1558	c.1441A>G	c.(1441-1443)Aga>Gga	p.R481G	POSTN_ENST00000379742.4_Missense_Mutation_p.R481G|POSTN_ENST00000541481.1_Missense_Mutation_p.R481G|POSTN_ENST00000379743.4_Missense_Mutation_p.R481G|POSTN_ENST00000379749.4_Missense_Mutation_p.R481G|POSTN_ENST00000541179.1_Missense_Mutation_p.R481G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	481	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GCACCGTTTCTCCCTTGCTTA	0.423																																																	0													274	252	260					13																	38154786		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1441A>G	13.37:g.38154786T>C	ENSP00000369071:p.Arg481Gly		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.R481G	ENST00000379747.4	37	c.1441	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	14.85	2.659230	0.47467	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.03	2.35	0.29111	FAS1 domain (6);	0.178761	0.64402	D	0.000015	D	0.90916	0.7145	L	0.38838	1.175	0.37512	D	0.917198	D;D;P;D;D;P;P	0.71674	0.998;0.995;0.939;0.997;0.994;0.537;0.939	D;D;P;D;D;B;P	0.85130	0.997;0.995;0.758;0.995;0.983;0.237;0.758	D	0.88291	0.2943	10	0.20519	T	0.43	-25.3404	11.6471	0.51267	0.0:0.0:0.2813:0.7187	.	481;481;481;481;481;481;481	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	G	481	ENSP00000437959:R481G;ENSP00000369073:R481G;ENSP00000369071:R481G;ENSP00000369067:R481G;ENSP00000369066:R481G;ENSP00000437953:R481G	ENSP00000369066:R481G	R	-	1	2	POSTN	37052786	0.999000	0.42202	0.980000	0.43619	0.221000	0.24807	2.401000	0.44513	0.836000	0.34901	0.460000	0.39030	AGA	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.423	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	111	0	T	NM_006475		38154786	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	28.07	82	32	SNP	1.000	C	C	38154786	T	C	38154786	3	2	87	1	0	0	0	0	1	0	0	0	12298	1559	54	4	1121	4	POSTN	13	38154786	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1454836	38154786	77015092	1303	24427											
POSTN	10631	genome.wustl.edu	37	chr13	38156600	38156600	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttttactttcaatatgTgattctgcagaattaattta	13	18	4	6	0	2	2	1	1	1	1	2	2	2	2	0	0	3	1	0	0	7	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:38156600T>G	ENST00000379747.4	-	10	1412	c.1295A>C	c.(1294-1296)cAc>cCc	p.H432P	POSTN_ENST00000379742.4_Missense_Mutation_p.H432P|POSTN_ENST00000541481.1_Missense_Mutation_p.H432P|POSTN_ENST00000379743.4_Missense_Mutation_p.H432P|POSTN_ENST00000379749.4_Missense_Mutation_p.H432P|POSTN_ENST00000541179.1_Missense_Mutation_p.H432P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	432	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTTCAATATGTGATTCTGCAG	0.353																																																	0													125	122	123					13																	38156600		2203	4300	6503	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1295A>C	13.37:g.38156600T>G	ENSP00000369071:p.His432Pro		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.H432P	ENST00000379747.4	37	c.1295	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604390	0.87157	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76	6.07	6.07	0.98685	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.99052	0.9675	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.996;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.998;1.0;0.998;0.989;1.0;1.0	D	0.99719	1.1009	10	0.87932	D	0	-17.099	16.6407	0.85098	0.0:0.0:0.0:1.0	.	432;432;432;432;432;432;432	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	P	432	ENSP00000437959:H432P;ENSP00000369073:H432P;ENSP00000369071:H432P;ENSP00000369067:H432P;ENSP00000369066:H432P;ENSP00000437953:H432P	ENSP00000369066:H432P	H	-	2	0	POSTN	37054600	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.643000	0.83403	2.326000	0.78906	0.533000	0.62120	CAC	POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.353	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0	108	0	T	NM_006475		38156600	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	missense	38.57	43	27	SNP	1.000	G	G	38156600	T	G	38156600	3	3	87	1	0	0	0	0	1	0	0	0	12298	1696	59	4	1271	4	POSTN	13	38156600	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1814	38156600	77013278	1304	24428											
FREM2	341640	genome.wustl.edu	37	chr13	39262085	39262085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcaatgccctggacGcgcggagcctggagttcgcc	7	5	15	14	4	0	0	0	0	0	0	1	4	0	4	4	4	3	2	4	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:39262085G>A	ENST00000280481.7	+	1	820	c.604G>A	c.(604-606)Gcg>Acg	p.A202T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	202					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCCTGGACGCGCGGAGCCT	0.647																																																	0													43	43	43					13																	39262085		2194	4297	6491	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.604G>A	13.37:g.39262085G>A	ENSP00000280481:p.Ala202Thr		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.A202T	ENST00000280481.7	37	c.604	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858961	0.17178	.	.	ENSG00000150893	ENST00000280481	T	0.18810	2.19	5.46	3.6	0.41247	.	0.533362	0.19597	N	0.110491	T	0.12561	0.0305	L	0.28115	0.83	0.19775	N	0.999957	B	0.23650	0.089	B	0.20577	0.03	T	0.24119	-1.0169	10	0.20046	T	0.44	.	7.3895	0.26901	0.0721:0.1332:0.6736:0.1211	.	202	Q5SZK8	FREM2_HUMAN	T	202	ENSP00000280481:A202T	ENSP00000280481:A202T	A	+	1	0	FREM2	38160085	0.075000	0.21258	0.977000	0.42913	0.994000	0.84299	2.478000	0.45189	1.270000	0.44297	0.655000	0.94253	GCG	FREM2	-	NULL	ENSG00000150893		0.647	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	68	0	G	NM_207361		39262085	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	8.96	61	6	SNP	0.483	A	A	39262085	G	A	39262085	3	1	87	1	0	0	0	0	1	0	0	0	6069	1087	38	1	606	1	FREM2	13	39262085	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1105485	39262085	75907793	1305	24429											
COG6	57511	genome.wustl.edu	37	chr13	40253676	40253677	+	Splice_Site	INS	-	-	T																															acattcttaattttaaaggaINSttttttcaaggcactgggaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:40253676_40253677insT	ENST00000455146.3	+	6	592_593	c.542_543insT	c.(541-546)gatttt>gaTtttt	p.DF181fs	COG6_ENST00000416691.1_Splice_Site_p.DF181fs	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	181					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTTTAAAGGATTTTTTCAAGG	0.371																																																	0																																										SO:0001630	splice_region_variant	0			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"Components of oligomeric golgi complex"	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.541-1->T	13.37:g.40253682_40253682dupT			Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Frame_Shift_Ins	INS	pfam_COG6	p.K184fs	ENST00000455146.3	37	c.542_543	CCDS9370.1	13																																																																																			COG6	-	pfam_COG6	ENSG00000133103		0.371	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COG6	HGNC	protein_coding	OTTHUMT00000044622.3		0	37	0	-		Frame_Shift_Ins	40253677	1	tier1		no_errors	ENST00000455146	ensembl	human	known	74_37	frame_shift_ins	40.00	18	12	INS	0.998:0.592	T	T	40253677	-	T	40253676	8	5	87	1	0	1	1	0	0	0	1	0	3669	347	12	0	564	0	COG6	13	40253676	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	991591	40253676	74916202	1306	24430											
DGKH	160851	genome.wustl.edu	37	chr13	42742607	42742607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagtttgacaatttcCggattcttgtttgtggaggc	8	16	11	6	1	2	2	1	1	1	1	3	4	3	4	1	3	0	2	1	3	2	6	rs369204515		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:42742607C>T	ENST00000337343.4	+	10	1171	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	DGKH_ENST00000379274.2_Missense_Mutation_p.R248W|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.R384W|DGKH_ENST00000536612.1_Missense_Mutation_p.R248W|DGKH_ENST00000538674.1_Missense_Mutation_p.R139W|DGKH_ENST00000261491.5_Missense_Mutation_p.R384W	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	384	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R384W(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGACAATTTCCGGATTCTTGT	0.318																																																	1	Substitution - Missense(1)	large_intestine(1)						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	92	90	91		1150,742,742,1150,1150	4.7	1	13		91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	DGKH	NM_001204504.1,NM_001204505.1,NM_001204506.1,NM_152910.4,NM_178009.3	101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	384/1165,248/1101,248/1085,384/1165,384/1221	42742607	1,13005	2203	4300	6503	SO:0001583	missense	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1150C>T	13.37:g.42742607C>T	ENSP00000337572:p.Arg384Trp		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.R384W	ENST00000337343.4	37	c.1150	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381986	0.61845	0.0	1.16E-4	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.56	4.72	0.59763	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	H	0.96111	3.77	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.80661	-0.1283	10	0.87932	D	0	.	11.1672	0.48550	0.0:0.8409:0.0:0.1591	.	139;248;384;384	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	W	384;384;384;248;248;139	ENSP00000440823:R384W;ENSP00000337572:R384W;ENSP00000261491:R384W;ENSP00000368576:R248W;ENSP00000445114:R248W;ENSP00000441308:R139W	ENSP00000261491:R384W	R	+	1	2	DGKH	41640607	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	2.610000	0.46325	1.357000	0.45904	-0.251000	0.11542	CGG	DGKH	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000102780		0.318	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2		0	55	0	C	NM_178009		42742607	1			no_errors	ENST00000337343	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	42742607	C	T	42742607	3	4	87	1	0	0	0	0	1	0	0	0	4484	643	23	1	1188	1	DGKH	13	42742607	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2488931	42742607	72427271	1307	24431											
KIAA1704	55425	genome.wustl.edu	37	chr13	45602077	45602078	+	Frame_Shift_Ins	INS	-	-	A																															gctcagaaaaaagccctaatINSaaaaaaatctagagaactaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:45602077_45602078insA	ENST00000379151.4	+	8	1065_1066	c.962_963insA	c.(961-966)ataaaafs	p.IK321fs	GPALPP1_ENST00000361121.2_Frame_Shift_Ins_p.IK321fs|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_Frame_Shift_Ins_p.IK151fs	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	321																	AAAGCCCTAATAAAAAAATCTA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"KIAA1704"	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.969dupA	13.37:g.45602084_45602084dupA	ENSP00000368447:p.Ile321fs		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Frame_Shift_Ins	INS	pfam_DUF3752	p.S324fs	ENST00000379151.4	37	c.962_963	CCDS9394.1	13																																																																																			GPALPP1	-	pfam_DUF3752	ENSG00000133114		0.332	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	HGNC	protein_coding	OTTHUMT00000044749.2		0	106	0	-	NM_018559		45602078	1	tier1		no_errors	ENST00000361121	ensembl	human	known	74_37	frame_shift_ins	13.83	81	13	INS	1.000:1.000	A	A	45602078	-	A	45602077	7	5	87	1	0	1	1	0	0	0	0	0	8279	1406	49	0	992	0	KIAA1704	13	45602077	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2859470	45602077	69567801	1308	24432											
ZC3H13	23091	genome.wustl.edu	37	chr13	46542966	46542967	+	Frame_Shift_Ins	INS	-	-	T																															tgtgatttccaggctttttgINSttttttctctatctcttgag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:46542966_46542967insT	ENST00000242848.4	-	14	4060_4061	c.3712_3713insA	c.(3712-3714)acafs	p.T1238fs	ZC3H13_ENST00000282007.3_Frame_Shift_Ins_p.T1238fs|ZC3H13_ENST00000378921.2_Frame_Shift_Ins_p.T194fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1238	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CAGGCTTTTTGTTTTTTCTCTA	0.431																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0																																										SO:0001589	frameshift_variant	0			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"Zinc fingers, CCCH-type domain containing"	20368	protein-coding gene	gene with protein product			"KIAA0853"	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3713dupA	13.37:g.46542972_46542972dupT	ENSP00000242848:p.Thr1238fs		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Ins	INS	pfam_Znf_CCCH,smart_Znf_CCCH	p.T1238fs	ENST00000242848.4	37	c.3713_3712		13																																																																																			ZC3H13	-	NULL	ENSG00000123200		0.431	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1		0	63	0	-	NM_015070		46542967	-1	tier1		no_errors	ENST00000242848	ensembl	human	known	74_37	frame_shift_ins	23.21	43	13	INS	0.994:1.000	T	T	46542967	-	T	46542966	7	5	87	1	0	1	1	0	0	0	0	0	17613	1377	48	0	997	0	ZC3H13	13	46542966	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	940889	46542966	68626912	1309	24433											
CAB39L	81617	genome.wustl.edu	37	chr13	49957037	49957037	+	Frame_Shift_Del	DEL	T	T	-																															tgatttactaaacaaaggcaTttttttcatgtgtagaaatc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:49957037delT	ENST00000355854.4	-	2	507	c.10delA	c.(10-12)atgfs	p.M4fs	CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000410043.1_Frame_Shift_Del_p.M4fs|CAB39L_ENST00000347776.5_Frame_Shift_Del_p.M4fs|CAB39L_ENST00000409308.1_Frame_Shift_Del_p.M4fs	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	4					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		AACAAAGGCATTTTTTTCATG	0.284																																																	0													138	121	126					13																	49957037		1796	4058	5854	SO:0001589	frameshift_variant	0			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.10delA	13.37:g.49957037delT	ENSP00000348113:p.Met4fs		Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Frame_Shift_Del	DEL	pfam_Mo25,superfamily_ARM-type_fold	p.M4fs	ENST00000355854.4	37	c.10	CCDS9416.2	13																																																																																			CAB39L	-	NULL	ENSG00000102547		0.284	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	HGNC	protein_coding	OTTHUMT00000044908.3		0	123	0	T	NM_030925		49957037	-1	tier1		no_errors	ENST00000347776	ensembl	human	known	74_37	frame_shift_del	25.00	87	29	DEL	1.000	-	-	49957037	T	-	49957037	7	5	87	1	0	1	0	1	0	0	0	0	2533	1493	52	0	1035	0	CAB39L	13	49957037	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	3414071	49957037	65212841	1310	24434											
C13orf1	57213	genome.wustl.edu	37	chr13	50502184	50502184	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagaggaatctgattcaaGttaaccttctgagttgcaac	13	11	8	9	0	3	3	1	2	2	1	3	4	3	4	2	1	3	3	2	1	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:50502184G>C	ENST00000361840.3	-	3	365	c.261C>G	c.(259-261)aaC>aaG	p.N87K	SPRYD7_ENST00000378195.2_Missense_Mutation_p.N48K|SPRYD7_ENST00000492258.1_5'Flank	NM_020456.2	NP_065189.1	Q5W111	SPRY7_HUMAN	SPRY domain containing 7	87	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCTGATTCAAGTTAACCTTCT	0.393																																																	0													130	121	124					13																	50502184		2203	4300	6503	SO:0001583	missense	0			AF055016	CCDS9422.1, CCDS45046.1	13q14.3	2011-05-25	2011-05-25	2011-05-25	ENSG00000123178	ENSG00000123178			14297	protein-coding gene	gene with protein product		607866	"chromosome 13 open reading frame 1"	C13orf1		11306461, 11771308	Standard	NM_020456		Approved	CLLD6	uc001vdl.2	Q5W111	OTTHUMG00000016924	ENST00000361840.3:c.261C>G	13.37:g.50502184G>C	ENSP00000354774:p.Asn87Lys		A8K3G1|O60648|Q8TBG8|Q96T69	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.N87K	ENST00000361840.3	37	c.261	CCDS9422.1	13	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609125	0.66558	.	.	ENSG00000123178	ENST00000361840;ENST00000378195	T;T	0.64260	-0.09;-0.09	5.32	3.56	0.40772	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.69468	0.3114	L	0.60455	1.87	0.58432	D	0.999996	D;D;D	0.63880	0.959;0.993;0.959	P;D;P	0.63033	0.542;0.91;0.643	T	0.67845	-0.5565	10	0.38643	T	0.18	-14.1557	9.1493	0.36953	0.2855:0.0:0.7145:0.0	.	87;48;87	B2RE68;Q5W111-2;Q5W111	.;.;SPRY7_HUMAN	K	87;48	ENSP00000354774:N87K;ENSP00000367437:N48K	ENSP00000354774:N87K	N	-	3	2	SPRYD7	49400185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.007000	0.49536	1.388000	0.46506	0.655000	0.94253	AAC	SPRYD7	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000123178		0.393	SPRYD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD7	HGNC	protein_coding	OTTHUMT00000044942.2	-	0	96	0	G	NM_020456		50502184	-1	tier1	-	no_errors	ENST00000361840	ensembl	human	known	74_37	missense	14.93	57	10	SNP	1.000	C	C	50502184	G	C	50502184	3	2	87	1	0	0	0	0	1	0	0	0	1722	1020	36	5	341	5	C13orf1	13	50502184	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	545147	50502184	64667694	1311	24435											
WDFY2	115825	genome.wustl.edu	37	chr13	52158844	52158845	+	Frame_Shift_Ins	INS	-	-	A																															tggcggcggagatccagcccINSaagcctctgacccgcaagcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52158844_52158845insA	ENST00000298125.5	+	1	201_202	c.21_22insA	c.(22-24)aagfs	p.K8fs	RNY1P6_ENST00000384193.1_RNA	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	8							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGATCCAGCCCAAGCCTCTGAC	0.708																																																	0																																										SO:0001589	frameshift_variant	0			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.23dupA	13.37:g.52158846_52158846dupA	ENSP00000298125:p.Lys8fs		B1AL86|Q96CS1	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P8fs	ENST00000298125.5	37	c.21_22	CCDS9429.1	13																																																																																			WDFY2	-	NULL	ENSG00000139668		0.708	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3		0	67	0	-	NM_052950		52158845	1	tier1		no_errors	ENST00000298125	ensembl	human	known	74_37	frame_shift_ins	22.73	51	15	INS	1.000:1.000	A	A	52158845	-	A	52158844	7	5	87	1	0	1	1	0	0	0	0	0	17318	581	21	0	23	0	WDFY2	13	52158844	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1656660	52158844	63011034	1312	24436											
DHRS12	79758	genome.wustl.edu	37	chr13	52348164	52348164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacattcctcctgaggagaCggttatctgcaataaaggta	13	10	9	9	1	1	2	0	1	1	1	3	3	3	2	2	3	2	3	2	3	6	4	rs145669707		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52348164C>T	ENST00000444610.2	-	7	530	c.517G>A	c.(517-519)Gtc>Atc	p.V173I	DHRS12_ENST00000280056.2_Missense_Mutation_p.V124I|DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Missense_Mutation_p.V124I	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	173							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		CCTGAGGAGACGGTTATCTGC	0.448																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	136	116	123		370,370	1.5	0	13	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	DHRS12	NM_001031719.1,NM_024705.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	124/272,124/243	52348164	1,13005	2203	4300	6503	SO:0001583	missense	0			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.517G>A	13.37:g.52348164C>T	ENSP00000411565:p.Val173Ile		Q96GB2|Q9H8H1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.V173I	ENST00000444610.2	37	c.517	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863584	0.51482	0.0	1.16E-4	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	D;D;D	0.87571	-2.27;-2.27;-2.27	3.28	1.52	0.23074	NAD(P)-binding domain (1);	0.133058	0.49916	N	0.000133	D	0.83431	0.5253	L	0.41492	1.28	0.25280	N	0.989442	P;D;P	0.58970	0.895;0.984;0.788	P;P;P	0.51324	0.566;0.666;0.449	T	0.75013	-0.3467	10	0.62326	D	0.03	.	6.0311	0.19681	0.1868:0.7052:0.0:0.108	.	124;124;173	A0PJE2-3;A0PJE2-2;A0PJE2	.;.;DHR12_HUMAN	I	173;124;124	ENSP00000411565:V173I;ENSP00000218981:V124I;ENSP00000280056:V124I	ENSP00000218981:V124I	V	-	1	0	DHRS12	51246165	0.997000	0.39634	0.021000	0.16686	0.102000	0.19082	3.664000	0.54525	0.397000	0.25310	-0.219000	0.12488	GTC	DHRS12	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR	ENSG00000102796		0.448	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3	-	0	28	0	C	NM_024705		52348164	-1	tier1	rs145669707	no_errors	ENST00000444610	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.996	T	T	52348164	C	T	52348164	3	4	87	1	0	0	0	0	1	0	0	0	4502	536	19	1	631	1	DHRS12	13	52348164	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	189320	52348164	62821714	1313	24437											
ATP7B	540	genome.wustl.edu	37	chr13	52532637	52532637	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggctgacctgtgtctcAgagatttgtaggcctgaacg	7	13	13	8	1	1	3	1	2	1	1	2	4	1	3	2	2	1	3	2	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52532637A>C	ENST00000242839.4	-	8	2321	c.2165T>G	c.(2164-2166)cTg>cGg	p.L722R	ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.L722R|ATP7B_ENST00000400366.3_Missense_Mutation_p.L611R|ATP7B_ENST00000542656.1_Silent_p.S497S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	722					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCTGTGTCTCAGAGATTTGTA	0.522									Wilson disease																																								0													99	103	102					13																	52532637		2084	4203	6287	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2165T>G	13.37:g.52532637A>C	ENSP00000242839:p.Leu722Arg		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.L722R	ENST00000242839.4	37	c.2165	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619717	0.87460	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000418097	D;D;D	0.97710	-4.5;-4.5;-4.5	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	H	0.98005	4.125	0.80722	D	1	D;P;D	0.89917	1.0;0.567;1.0	D;B;D	0.83275	0.994;0.43;0.996	D	0.98742	1.0717	10	0.87932	D	0	-16.2064	15.3793	0.74641	1.0:0.0:0.0:0.0	.	722;611;722	F5H748;P35670-3;P35670	.;.;ATP7B_HUMAN	R	722;611;722	ENSP00000242839:L722R;ENSP00000383217:L611R;ENSP00000393343:L722R	ENSP00000242839:L722R	L	-	2	0	ATP7B	51430638	1.000000	0.71417	0.988000	0.46212	0.930000	0.56654	9.281000	0.95811	2.029000	0.59856	0.460000	0.39030	CTG	ATP7B	-	NULL	ENSG00000123191		0.522	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	-	0	68	0	A	NM_000053		52532637	-1	tier1	-	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	C	C	52532637	A	C	52532637	3	2	87	1	0	0	0	0	1	0	0	0	1192	188	7	4	2288	4	ATP7B	13	52532637	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	184473	52532637	62637241	1314	24438											
ALG11	440138	genome.wustl.edu	37	chr13	52593151	52593152	+	Frame_Shift_Ins	INS	-	-	A																															gactgctgctacagagaaagINSaaaaaattagtgtcaactag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:52593151_52593152insA	ENST00000521508.1	+	2	152_153	c.147_148insA	c.(148-150)aaafs	p.K50fs	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2	Q2TAA5	ALG11_HUMAN	ALG11, alpha-1,2-mannosyltransferase	50					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GDP-Man:Man3GlcNAc2-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0004377)			endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TACAGAGAAAGAAAAAATTAGT	0.371																																																	0																																										SO:0001589	frameshift_variant	0			AK025456	CCDS31977.1	13q14.3	2013-02-22	2013-02-22		ENSG00000253710	ENSG00000253710	2.4.1.131	"Glycosyltransferase group 1 domain containing"	32456	protein-coding gene	gene with protein product	"GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"	613666	"asparagine-linked glycosylation 11 homolog (S. cerevisiae, alpha-1,2-mannosyltransferase)", "asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast)"			20080937	Standard	NM_001004127		Approved	KIAA0266		Q2TAA5	OTTHUMG00000016959	ENST00000521508.1:c.153dupA	13.37:g.52593157_52593157dupA	ENSP00000430236:p.Lys50fs		A5PLP3|B4DKW9|Q5TAN9|Q6DKI6|Q96FI7	Frame_Shift_Ins	INS	pfam_Glyco_trans_1	p.L51fs	ENST00000521508.1	37	c.147_148	CCDS31977.1	13																																																																																			ALG11	-	NULL	ENSG00000253710		0.371	ALG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG11	HGNC	protein_coding	OTTHUMT00000045050.1		0	74	0	-	NM_001004127		52593152	1	tier1		no_errors	ENST00000521508	ensembl	human	known	74_37	frame_shift_ins	12.16	65	9	INS	1.000:1.000	A	A	52593152	-	A	52593151	7	5	87	1	0	1	1	0	0	0	0	0	513	933	33	0	153	0	ALG11	13	52593151	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	60514	52593151	62576727	1315	24439											
SUGT1	10910	genome.wustl.edu	37	chr13	53239840	53239840	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatgttcagaagaatgAtgtaaatgtggaattttcag	16	12	10	3	0	2	4	2	1	0	3	2	5	2	5	0	1	0	2	0	1	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:53239840A>G	ENST00000343788.6	+	10	669	c.587A>G	c.(586-588)gAt>gGt	p.D196G	SUGT1_ENST00000535397.1_Missense_Mutation_p.D108G|SUGT1_ENST00000310528.8_Missense_Mutation_p.D164G	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	196	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CAGAAGAATGATGTAAATGTG	0.279																																																	0													73	79	77					13																	53239840		2203	4289	6492	SO:0001583	missense	0			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.587A>G	13.37:g.53239840A>G	ENSP00000367208:p.Asp196Gly		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	pfam_SGS,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D196G	ENST00000343788.6	37	c.587	CCDS45050.1	13	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924420	0.34002	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T;T	0.18016	2.24;2.24;2.24	5.77	5.77	0.91146	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.345680	0.38164	N	0.001795	T	0.14614	0.0353	L	0.31294	0.92	0.34189	D	0.671874	B;B;B;B	0.15141	0.002;0.003;0.012;0.002	B;B;B;B	0.22880	0.007;0.026;0.042;0.011	T	0.16748	-1.0392	9	.	.	.	-12.5724	15.0686	0.72017	1.0:0.0:0.0:0.0	.	108;108;196;164	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	G	196;108;164	ENSP00000367208:D196G;ENSP00000443521:D108G;ENSP00000308067:D164G	.	D	+	2	0	SUGT1	52137841	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.349000	0.44054	2.207000	0.71202	0.528000	0.53228	GAT	SUGT1	-	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	ENSG00000165416		0.279	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUGT1	HGNC	protein_coding	OTTHUMT00000045104.2	-	0	62	0	A			53239840	1	tier1	-	no_errors	ENST00000343788	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	G	G	53239840	A	G	53239840	3	3	87	1	0	0	0	0	1	0	0	0	15416	333	12	4	625	4	SUGT1	13	53239840	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	646689	53239840	61930038	1316	24440											
DIAPH3	81624	genome.wustl.edu	37	chr13	60565348	60565348	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaatagaaataaaataTccctctgctctagtttcttt	14	15	5	7	0	3	3	0	1	3	2	4	3	4	3	1	0	1	2	1	0	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:60565348T>A	ENST00000400324.4	-	12	1525	c.1305A>T	c.(1303-1305)ggA>ggT	p.G435G	DIAPH3_ENST00000400319.1_Silent_p.G365G|DIAPH3_ENST00000267215.4_Silent_p.G435G|DIAPH3_ENST00000377908.2_Silent_p.G424G|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.G389G|DIAPH3_ENST00000400330.1_Silent_p.G435G	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	435	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATAAAATATCCCTCTGCTC	0.294																																																	0													98	98	98					13																	60565348		1810	4071	5881	SO:0001819	synonymous_variant	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"diaphanous (Drosophila, homolog) 3", "auditory neuropathy, autosomal dominant 1", "diaphanous homolog 3 (Drosophila)"	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1305A>T	13.37:g.60565348T>A			A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.G435	ENST00000400324.4	37	c.1305	CCDS41898.1	13																																																																																			DIAPH3	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000139734		0.294	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	-	0	49	0	T	NM_001042517		60565348	-1	tier1	-	no_errors	ENST00000400324	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.995	A	A	60565348	T	A	60565348	2	1	87	1	0	0	0	0	0	0	0	1	4534	1422	50	5		5	DIAPH3	13	60565348	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	7325508	60565348	54604530	1317	24441											
TDRD3	81550	genome.wustl.edu	37	chr13	61103042	61103042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataatgaagctttcagtggTataaaaattgaaaaacattt	19	13	6	3	0	1	2	1	2	0	0	1	2	1	2	0	1	2	2	0	1	9	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:61103042T>C	ENST00000196169.3	+	11	2192	c.1404T>C	c.(1402-1404)ggT>ggC	p.G468G	TDRD3_ENST00000377881.2_Silent_p.G468G|TDRD3_ENST00000535286.1_Silent_p.G561G|TDRD3_ENST00000377894.2_Silent_p.G468G	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	468					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CTTTCAGTGGTATAAAAATTG	0.289																																					Colon(36;164 906 35820 50723)												0													29	33	32					13																	61103042		2202	4297	6499	SO:0001819	synonymous_variant	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1404T>C	13.37:g.61103042T>C			B2MWP9|Q53XA6|Q6P992	Silent	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.G561	ENST00000196169.3	37	c.1683	CCDS9441.1	13																																																																																			TDRD3	-	NULL	ENSG00000083544		0.289	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	-	0	75	0	T	NM_030794		61103042	1	tier1	-	no_errors	ENST00000535286	ensembl	human	known	74_37	silent	11.43	62	8	SNP	0.336	C	C	61103042	T	C	61103042	2	2	87	1	0	0	0	0	0	0	0	1	15779	1625	57	4		4	TDRD3	13	61103042	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	537694	61103042	54066836	1318	24442											
MYCBP2	23077	genome.wustl.edu	37	chr13	77764414	77764414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataactgaggtatctgacccGcattaacatctgtaccatta	13	12	6	10	1	2	2	0	2	2	0	2	2	2	2	2	1	3	3	2	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:77764414G>A	ENST00000544440.2	-	29	4030	c.4013C>T	c.(4012-4014)gCg>gTg	p.A1338V	MYCBP2_ENST00000407578.2_Missense_Mutation_p.A1376V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1338V|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATCTGACCCGCATTAACATC	0.299																																																	0													97	96	96					13																	77764414		2203	4293	6496	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4013C>T	13.37:g.77764414G>A	ENSP00000444596:p.Ala1338Val			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A1376V	ENST00000544440.2	37	c.4127		13	.	.	.	.	.	.	.	.	.	.	G	35	5.471258	0.96274	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.30182	1.55;1.54;1.55	5.55	5.55	0.83447	PHR (1);	0.134451	0.49305	D	0.000146	T	0.45498	0.1345	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.42515	-0.9447	10	0.72032	D	0.01	.	19.4525	0.94873	0.0:0.0:1.0:0.0	.	1338	O75592	MYCB2_HUMAN	V	1338;1376;1338	ENSP00000349892:A1338V;ENSP00000384288:A1376V;ENSP00000444596:A1338V	ENSP00000349892:A1338V	A	-	2	0	MYCBP2	76662415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.144000	0.94629	2.767000	0.95098	0.563000	0.77884	GCG	MYCBP2	-	pfam_PHR,superfamily_ARM-type_fold	ENSG00000005810		0.299	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	53	0	G	NM_015057		77764414	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	77764414	G	A	77764414	3	1	87	1	0	0	0	0	1	0	0	0	10056	1087	38	1	10129	1	MYCBP2	13	77764414	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	16661372	77764414	37405464	1319	24443											
MYCBP2	23077	genome.wustl.edu	37	chr13	77842008	77842008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaccatcttgctccagtGtttcagggcttatccttatg	7	15	8	11	0	2	0	1	0	1	0	4	0	4	0	3	1	2	4	3	1	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:77842008G>A	ENST00000544440.2	-	8	1228	c.1211C>T	c.(1210-1212)aCa>aTa	p.T404I	MYCBP2_ENST00000407578.2_Missense_Mutation_p.T442I|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T404I|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGCTCCAGTGTTTCAGGGCT	0.333																																																	0													166	146	153					13																	77842008		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1211C>T	13.37:g.77842008G>A	ENSP00000444596:p.Thr404Ile			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T442I	ENST00000544440.2	37	c.1325		13	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933965	0.92458	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.50001	0.76;0.76;0.76	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	L	0.57536	1.79	0.80722	D	1	B	0.32968	0.392	B	0.31191	0.125	T	0.52124	-0.8617	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	404	O75592	MYCB2_HUMAN	I	404;442;404	ENSP00000349892:T404I;ENSP00000384288:T442I;ENSP00000444596:T404I	ENSP00000349892:T404I	T	-	2	0	MYCBP2	76740009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.781000	0.99029	2.727000	0.93392	0.591000	0.81541	ACA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.333	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	59	0	G	NM_015057		77842008	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	A	A	77842008	G	A	77842008	3	1	87	1	0	0	0	0	1	0	0	0	10056	1377	48	3	13015	3	MYCBP2	13	77842008	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	77594	77842008	37327870	1320	24444											
SLITRK5	26050	genome.wustl.edu	37	chr13	88327706	88327706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacagaaaaatgcatagctgGatgctgcagactctagcgtt	13	9	10	9	1	1	2	0	0	1	2	1	3	1	3	0	1	5	5	0	1	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:88327706G>A	ENST00000325089.6	+	2	282	c.63G>A	c.(61-63)tgG>tgA	p.W21*	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	21					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCATAGCTGGATGCTGCAGA	0.448																																																	0													127	113	117					13																	88327706		2203	4300	6503	SO:0001587	stop_gained	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.63G>A	13.37:g.88327706G>A	ENSP00000366283:p.Trp21*		B3KNB8|B4DSH5|Q5VT81	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.W21*	ENST00000325089.6	37	c.63	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.221509	0.95139	.	.	ENSG00000165300	ENST00000325089	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.9636	17.49	0.87701	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	.	W	+	3	0	SLITRK5	87125707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.744000	0.94065	0.561000	0.74099	TGG	SLITRK5	-	NULL	ENSG00000165300		0.448	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	64	0	G			88327706	1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	nonsense	23.68	29	9	SNP	1.000	A	A	88327706	G	A	88327706	4	1	87	1	0	0	0	0	0	1	0	0	14791	1183	41	3	65	3	SLITRK5	13	88327706	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10485698	88327706	26842172	1321	24445											
SLITRK5	26050	genome.wustl.edu	37	chr13	88330073	88330073	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacagcagcagcccccGccgcagctgcagctgcagcc	8	2	11	20	2	0	0	0	0	0	0	0	0	0	0	5	0	9	7	5	0	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:88330073G>C	ENST00000325089.6	+	2	2649	c.2430G>C	c.(2428-2430)ccG>ccC	p.P810P	SLITRK5_ENST00000400028.3_Silent_p.P569P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	810					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agcagcccccgccgcagctgc	0.701																																																	0													8	11	10					13																	88330073		2003	4005	6008	SO:0001819	synonymous_variant	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2430G>C	13.37:g.88330073G>C			B3KNB8|B4DSH5|Q5VT81	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P810	ENST00000325089.6	37	c.2430	CCDS9465.1	13																																																																																			SLITRK5	-	NULL	ENSG00000165300		0.701	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	24	0	G			88330073	1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	silent	42.86	4	3	SNP	0.861	C	C	88330073	G	C	88330073	2	2	87	1	0	0	0	0	0	0	0	1	14791	1074	38	5		5	SLITRK5	13	88330073	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2367	88330073	26839805	1322	24446											
ABCC4	10257	genome.wustl.edu	37	chr13	95696013	95696013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgggcaaatttctcccGgatttttttttgtattaact	8	18	8	7	1	1	0	0	0	1	0	2	1	1	1	1	2	1	3	1	2	3	7	rs200017194		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:95696013G>A	ENST00000376887.4	-	29	3772	c.3658C>T	c.(3658-3660)Cgg>Tgg	p.R1220W	ABCC4_ENST00000412704.1_Missense_Mutation_p.R1173W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1220	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AATTTCTCCCGGATTTTTTTT	0.373																																																	0								G	TRP/ARG	0,4406		0,0,2203	109	107	108		3658	4.9	1	13		108	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ABCC4	NM_005845.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1220/1326	95696013	1,13005	2203	4300	6503	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3658C>T	13.37:g.95696013G>A	ENSP00000366084:p.Arg1220Trp		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.R1220W	ENST00000376887.4	37	c.3658	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754501	0.89843	0.0	1.16E-4	ENSG00000125257	ENST00000412704;ENST00000376887	T;T	0.80304	-1.36;-1.36	5.8	4.94	0.65067	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90559	0.7041	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92165	0.5739	10	0.87932	D	0	.	16.059	0.80826	0.0:0.0:0.8647:0.1352	.	1173;1220	O15439-2;O15439	.;MRP4_HUMAN	W	1173;1220	ENSP00000388657:R1173W;ENSP00000366084:R1220W	ENSP00000366084:R1220W	R	-	1	2	ABCC4	94494014	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.289000	0.72696	1.405000	0.46838	0.650000	0.86243	CGG	ABCC4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.373	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	-	0	63	0	G	NM_005845		95696013	-1	tier1	rs200017194	no_errors	ENST00000376887	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A	A	95696013	G	A	95696013	3	1	87	1	0	0	0	0	1	0	0	0	55	1115	39	1	331	1	ABCC4	13	95696013	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7365940	95696013	19473865	1323	24447											
MBNL2	10150	genome.wustl.edu	37	chr13	97995458	97995458	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagaaacttctcaggacTgacaaactggaggtacttca	14	9	8	10	0	3	2	3	1	1	1	4	4	3	4	0	3	3	1	0	3	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:97995458T>A	ENST00000376673.3	+	4	1309	c.528T>A	c.(526-528)acT>acA	p.T176T	MBNL2_ENST00000343600.4_Silent_p.T176T|MBNL2_ENST00000397601.1_Silent_p.T176T|MBNL2_ENST00000345429.6_Silent_p.T176T|MBNL2_ENST00000445661.2_Intron			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	176					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TTCTCAGGACTGACAAACTGG	0.443																																																	0													73	77	76					13																	97995458		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061261	CCDS9483.1, CCDS9484.1	13q31.1	2013-01-18	2012-02-23		ENSG00000139793	ENSG00000139793		"Zinc fingers, CCCH-type domain containing"	16746	protein-coding gene	gene with protein product		607327	"muscleblind-like 2 (Drosophila)"			11929853	Standard	NM_207304		Approved	MBLL, MBLL39	uc001vmz.4	Q5VZF2	OTTHUMG00000017239	ENST00000376673.3:c.528T>A	13.37:g.97995458T>A			Q3SXY5|Q58F19|Q8NEV3|Q8TD82	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.T176	ENST00000376673.3	37	c.528		13																																																																																			MBNL2	-	smart_Znf_CCCH	ENSG00000139793		0.443	MBNL2-202	KNOWN	basic	protein_coding	MBNL2	HGNC	protein_coding		-	0	84	0	T	NM_144778		97995458	1	tier1	-	no_errors	ENST00000376673	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.674	A	A	97995458	T	A	97995458	2	1	87	1	0	0	0	0	0	0	0	1	9392	1567	55	5		5	MBNL2	13	97995458	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2299445	97995458	17174420	1324	24448											
SLC15A1	6564	genome.wustl.edu	37	chr13	99362008	99362008	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctacctgcatctgatcGggctgaatttcaagagctcc	8	13	8	12	1	4	3	1	2	3	1	6	3	5	3	2	1	3	3	2	1	3	3	rs141847035		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:99362008G>T	ENST00000376503.5	-	13	1021	c.966C>A	c.(964-966)ccC>ccA	p.P322P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	322					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GCATCTGATCGGGCTGAATTT	0.423																																																	0													109	103	105					13																	99362008		2203	4300	6503	SO:0001819	synonymous_variant	0			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.966C>A	13.37:g.99362008G>T			Q5VW82	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.P322	ENST00000376503.5	37	c.966	CCDS9489.1	13																																																																																			SLC15A1	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	ENSG00000088386		0.423	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	-	0	58	0	G	NM_005073		99362008	-1	tier1	-	no_errors	ENST00000376503	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.046	T	T	99362008	G	T	99362008	2	4	87	1	0	0	0	0	0	0	0	1	14443	1103	39	2		2	SLC15A1	13	99362008	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1366550	99362008	15807870	1325	24449											
ITGBL1	9358	genome.wustl.edu	37	chr13	102220154	102220154	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaagaagaaaagtaacCaaatgtgcaagaattcacaa	22	6	7	6	0	1	4	1	1	0	3	1	4	1	4	1	0	2	2	1	0	9	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:102220154C>T	ENST00000376180.3	+	3	640	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	ITGBL1_ENST00000545560.2_5'UTR|ITGBL1_ENST00000376162.3_Nonsense_Mutation_p.Q48*	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	141	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAAAAGTAACCAAATGTGCAA	0.393																																																	0													149	138	142					13																	102220154		2203	4300	6503	SO:0001587	stop_gained	0			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"ten integrin EGF-like repeat domains protein", "ITGBL1, integrin beta-like 1"	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.421C>T	13.37:g.102220154C>T	ENSP00000365351:p.Gln141*		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Nonsense_Mutation	SNP	pfam_EGF_extracell,smart_EG-like_dom	p.Q141*	ENST00000376180.3	37	c.421	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	C	31	5.103982	0.94245	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000376162	.	.	.	5.29	5.29	0.74685	.	0.224065	0.45361	D	0.000361	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	13.2624	0.60113	0.0:0.7928:0.2072:0.0	.	.	.	.	X	141;49;48	.	ENSP00000365332:Q48X	Q	+	1	0	ITGBL1	101018155	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.795000	0.55499	2.640000	0.89533	0.585000	0.79938	CAA	ITGBL1	-	NULL	ENSG00000198542		0.393	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	HGNC	protein_coding	OTTHUMT00000045669.2	-	0	58	0	C	NM_004791		102220154	1	tier1	-	no_errors	ENST00000376180	ensembl	human	known	74_37	nonsense	18.18	45	10	SNP	1.000	T	T	102220154	C	T	102220154	4	4	87	1	0	0	0	0	0	1	0	0	7929	595	21	3	431	3	ITGBL1	13	102220154	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2858146	102220154	12949724	1326	24450											
FGF14	2259	genome.wustl.edu	37	chr13	102568949	102568949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccagtgctgctcccgcGcctgccgcttctggcggatc	2	9	13	17	4	1	0	0	0	1	0	4	1	3	1	4	3	3	3	4	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:102568949G>A	ENST00000376143.4	-	1	46	c.47C>T	c.(46-48)gCg>gTg	p.A16V	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	16					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTCCCGCGCCTGCCGCTT	0.726																																																	0																																										SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.47C>T	13.37:g.102568949G>A	ENSP00000365313:p.Ala16Val		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.A16V	ENST00000376143.4	37	c.47	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835247	0.50951	.	.	ENSG00000102466	ENST00000376143	T	0.76839	-1.05	5.06	5.06	0.68205	.	.	.	.	.	T	0.65260	0.2674	N	0.25286	0.73	0.58432	D	0.999992	B	0.32350	0.366	B	0.25614	0.062	T	0.63453	-0.6634	9	0.25751	T	0.34	.	18.4321	0.90630	0.0:0.0:1.0:0.0	.	16	Q92915	FGF14_HUMAN	V	16	ENSP00000365313:A16V	ENSP00000365313:A16V	A	-	2	0	FGF14	101366950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.084000	0.76866	2.343000	0.79666	0.563000	0.77884	GCG	FGF14	-	NULL	ENSG00000102466		0.726	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0	53	0	G			102568949	-1	tier1	-	no_errors	ENST00000376143	ensembl	human	known	74_37	missense	19.15	30	9	SNP	1.000	A	A	102568949	G	A	102568949	3	1	87	1	0	0	0	0	1	0	0	0	5865	1087	38	1	716	1	FGF14	13	102568949	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	348795	102568949	12600929	1327	24451											
MYO16	23026	genome.wustl.edu	37	chr13	109496836	109496836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcggttccaccaaacccGagcaggtaatcatgctttca	11	9	9	12	2	2	1	2	1	0	0	3	2	3	1	3	2	4	4	3	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:109496836G>A	ENST00000357550.2	+	9	1218	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	MYO16_ENST00000251041.5_Missense_Mutation_p.E393K|MYO16_ENST00000356711.2_Missense_Mutation_p.E393K	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACCAAACCCGAGCAGGTAAT	0.388																																																	0													107	104	105					13																	109496836		2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.1177G>A	13.37:g.109496836G>A	ENSP00000350160:p.Glu393Lys			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E393K	ENST00000357550.2	37	c.1177	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531209	0.64972	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041;ENST00000375857	D;D;D	0.95238	-3.65;-3.65;-3.65	5.31	5.31	0.75309	.	0.000000	0.40908	U	0.000982	D	0.96809	0.8958	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.65684	0.9;0.937	D	0.96396	0.9293	9	.	.	.	.	18.3404	0.90303	0.0:0.0:1.0:0.0	.	393;393	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	K	393;393;393;393;181	ENSP00000349145:E393K;ENSP00000350160:E393K;ENSP00000251041:E393K	.	E	+	1	0	MYO16	108294837	1.000000	0.71417	0.944000	0.38274	0.240000	0.25518	5.514000	0.67043	2.638000	0.89438	0.650000	0.86243	GAG	MYO16	-	superfamily_P-loop_NTPase	ENSG00000041515		0.388	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	50	0	G	NM_015011		109496836	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.998	A	A	109496836	G	A	109496836	3	1	87	1	0	0	0	0	1	0	0	0	10102	1059	37	1	1211	1	MYO16	13	109496836	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6927887	109496836	5673042	1328	24452											
MYO16	23026	genome.wustl.edu	37	chr13	109792756	109792756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggacgcgaggcccgCgggcgccccgggggcagcag	4	0	21	16	7	0	0	0	0	0	0	0	2	0	1	4	6	1	2	4	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:109792756C>T	ENST00000357550.2	+	31	4171	c.4130C>T	c.(4129-4131)gCg>gTg	p.A1377V	MYO16_ENST00000356711.2_Missense_Mutation_p.A1377V	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			gcgaggcccgcgggcgccccg	0.731																																																	0													11	11	11					13																	109792756		2113	4119	6232	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.4130C>T	13.37:g.109792756C>T	ENSP00000350160:p.Ala1377Val			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1377V	ENST00000357550.2	37	c.4130	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495621	0.12762	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.43688	0.94;0.94	4.69	-1.26	0.09376	.	2.279270	0.02735	U	0.115553	T	0.21841	0.0526	N	0.12182	0.205	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.07046	-1.0793	9	.	.	.	.	2.286	0.04126	0.1201:0.4232:0.1334:0.3233	.	1377	Q9Y6X6	MYO16_HUMAN	V	1377	ENSP00000349145:A1377V;ENSP00000350160:A1377V	.	A	+	2	0	MYO16	108590757	0.000000	0.05858	0.000000	0.03702	0.217000	0.24651	-0.459000	0.06728	-0.205000	0.10219	0.305000	0.20034	GCG	MYO16	-	NULL	ENSG00000041515		0.731	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	50	0	C	NM_015011		109792756	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.000	T	T	109792756	C	T	109792756	3	4	87	1	0	0	0	0	1	0	0	0	10102	768	27	1	4252	1	MYO16	13	109792756	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	295920	109792756	5377122	1329	24453											
RAB20	55647	genome.wustl.edu	37	chr13	111176254	111176254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatctttttataaagggccaCcgcatcctccagctgcacct	9	11	7	14	1	1	0	0	0	1	0	3	1	3	0	5	1	2	3	5	1	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr13:111176254C>T	ENST00000267328.3	-	2	676	c.463G>A	c.(463-465)Gtg>Atg	p.V155M		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	155					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TAAAGGGCCACCGCATCCTCC	0.582																																																	0													67	64	65					13																	111176254		2203	4300	6503	SO:0001583	missense	0			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"RAB, member RAS oncogene"	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.463G>A	13.37:g.111176254C>T	ENSP00000267328:p.Val155Met		Q5T9X5|Q9NX49	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V155M	ENST00000267328.3	37	c.463	CCDS9512.1	13	.	.	.	.	.	.	.	.	.	.	C	2.813	-0.246625	0.05867	.	.	ENSG00000139832	ENST00000267328	T	0.74209	-0.82	5.09	0.237	0.15475	.	0.802333	0.11894	N	0.519330	T	0.52996	0.1769	N	0.05554	-0.025	0.19300	N	0.999975	B	0.25206	0.12	B	0.23852	0.049	T	0.42396	-0.9454	10	0.46703	T	0.11	-26.1862	10.2511	0.43370	0.0:0.4122:0.0:0.5878	.	155	Q9NX57	RAB20_HUMAN	M	155	ENSP00000267328:V155M	ENSP00000267328:V155M	V	-	1	0	RAB20	109974255	0.000000	0.05858	0.063000	0.19743	0.069000	0.16628	-0.274000	0.08537	-0.051000	0.13334	-0.258000	0.10820	GTG	RAB20	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000139832		0.582	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB20	HGNC	protein_coding	OTTHUMT00000045760.2	-	0	43	0	C	NM_017817		111176254	-1	tier1	-	no_errors	ENST00000267328	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.014	T	T	111176254	C	T	111176254	3	4	87	1	0	0	0	0	1	0	0	0	12952	507	18	3	245	3	RAB20	13	111176254	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1383498	111176254	3993624	1330	24454											
TTC5	91875	genome.wustl.edu	37	chr14	20763965	20763966	+	Frame_Shift_Del	DEL	GA	GA	-																															agggtccagggctgcagcccGagagaagccctccagggcct																								rs139937413	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:20763965_20763966delGA	ENST00000258821.3	-	7	800_801	c.744_745delTC	c.(742-747)tctcggfs	p.R249fs		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	249					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GCTGCAGCCCGAGAGAAGCCCT	0.505																																																	0																																										SO:0001589	frameshift_variant	0			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.744_745delTC	14.37:g.20763969_20763970delGA	ENSP00000258821:p.Arg249fs		A8MQ18|Q96HF9	Frame_Shift_Del	DEL	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R249fs	ENST00000258821.3	37	c.745_744	CCDS9546.1	14																																																																																			TTC5	-	smart_TPR_repeat,pfscan_TPR_repeat	ENSG00000136319		0.505	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4		0	56	0	GA	NM_138376		20763966	-1	tier1		no_errors	ENST00000258821	ensembl	human	known	74_37	frame_shift_del	32.20	40	19	DEL	1.000:1.000	-	-	20763966	GA	-	20763965	7	5	87	1	0	1	0	1	0	0	0	0	16760	1057	37	0	593	0	TTC5	14	20763965	Frame_Shift_Del	DEL	GA	TCGA-L5-A8NM-01A-11D-A37C-09		20763965	86585575	1331	24455											
TTC5	91875	genome.wustl.edu	37	chr14	20770016	20770016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttcttccatctgctgtaGggttttctccatctccttct	4	19	5	13	0	5	0	0	0	5	0	8	0	6	0	3	1	2	3	3	1	2	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:20770016G>T	ENST00000258821.3	-	2	216	c.160C>A	c.(160-162)Cta>Ata	p.L54I		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	54					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATCTGCTGTAGGGTTTTCTCC	0.478																																																	0													251	193	213					14																	20770016		2203	4300	6503	SO:0001583	missense	0			BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"Tetratricopeptide (TTC) repeat domain containing"	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.160C>A	14.37:g.20770016G>T	ENSP00000258821:p.Leu54Ile		A8MQ18|Q96HF9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L54I	ENST00000258821.3	37	c.160	CCDS9546.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.670|8.670	0.902592|0.902592	0.17760|0.17760	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000258821;ENST00000553828|ENST00000423949	T|.	0.30981|.	1.51|.	4.44|4.44	2.55|2.55	0.30701|0.30701	Tetratricopeptide-like helical (1);|.	0.160356|.	0.41712|.	D|.	0.000823|.	T|T	0.43853|0.43853	0.1266|0.1266	L|L	0.41573|0.41573	1.285|1.285	0.39274|0.39274	D|D	0.964436|0.964436	B|.	0.23377|.	0.084|.	B|.	0.18871|.	0.023|.	T|T	0.29549|0.29549	-1.0008|-1.0008	10|5	0.27082|.	T|.	0.32|.	.|.	3.7384|3.7384	0.08520|0.08520	0.0924:0.1658:0.5709:0.1709|0.0924:0.1658:0.5709:0.1709	.|.	54|.	Q8N0Z6|.	TTC5_HUMAN|.	I|H	54;5|53	ENSP00000258821:L54I|.	ENSP00000258821:L54I|.	L|P	-|-	1|2	2|0	TTC5|TTC5	19839856|19839856	0.963000|0.963000	0.33076|0.33076	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.458000|1.458000	0.35223|0.35223	0.483000|0.483000	0.27608|0.27608	0.650000|0.650000	0.86243|0.86243	CTA|CCT	TTC5	-	NULL	ENSG00000136319		0.478	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC5	HGNC	protein_coding	OTTHUMT00000073529.4	-	0	87	0	G	NM_138376		20770016	-1	tier1	-	no_errors	ENST00000258821	ensembl	human	known	74_37	missense	12.35	71	10	SNP	1.000	T	T	20770016	G	T	20770016	3	4	87	1	0	0	0	0	1	0	0	0	16760	991	35	3	1198	3	TTC5	14	20770016	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6051	20770016	86579524	1332	24456											
RNASE11	122651	genome.wustl.edu	37	chr14	21052229	21052229	+	Frame_Shift_Del	DEL	G	G	-																															ttctgtacaaacttgcagctGggggccctgtggaccctgcg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:21052229delG	ENST00000610205.1	-	3	588	c.405delC	c.(403-405)cccfs	p.P135fs	RNASE11_ENST00000398009.2_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000398008.2_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000553849.1_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000432835.2_Frame_Shift_Del_p.P135fs|RNASE11_ENST00000555841.1_Frame_Shift_Del_p.P135fs	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	135						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACTTGCAGCTGGGGGCCCTGT	0.507																																																	0													72	64	67					14																	21052229		2203	4299	6502	SO:0001589	frameshift_variant	0			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"Ribonucleases, RNase A"	19269	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 6"	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.405delC	14.37:g.21052229delG	ENSP00000476537:p.Pro135fs			Frame_Shift_Del	DEL	pfam_RNaseA_domain,superfamily_RNaseA_domain	p.S136fs	ENST00000610205.1	37	c.405	CCDS9553.1	14																																																																																			RNASE11	-	pfam_RNaseA_domain,superfamily_RNaseA_domain	ENSG00000173464		0.507	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE11	HGNC	protein_coding	OTTHUMT00000073662.3		0	58	0	G	NM_145250		21052229	-1	tier1		no_errors	ENST00000398008	ensembl	human	known	74_37	frame_shift_del	23.40	36	11	DEL	0.002	-	-	21052229	G	-	21052229	7	5	87	1	0	1	0	1	0	0	0	0	13446	1335	47	0	198	0	RNASE11	14	21052229	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	282213	21052229	86297311	1333	24457											
FLJ10357	55701	genome.wustl.edu	37	chr14	21542955	21542956	+	In_Frame_Ins	INS	-	-	GAG																															cctgaggccaggggagcttaINSgaggaggaggaggaggaggc																								rs545146973|rs377320500	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:21542955_21542956insGAG	ENST00000298694.4	+	3	1193_1194	c.1066_1067insGAG	c.(1066-1068)aga>aGAGga	p.362_363insG	ARHGEF40_ENST00000298693.3_In_Frame_Ins_p.362_363insG			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	362	Gly-rich.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						AGGGGAGCTTAGAGGAGGAGGA	0.629																																																	0																																										SO:0001652	inframe_insertion	0				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"Rho guanine nucleotide exchange factors"	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.1082_1084dupGAG	14.37:g.21542962_21542964dupGAG	ENSP00000298694:p.Gly363_Gly364dup		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	In_Frame_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.360in_frame_insG	ENST00000298694.4	37	c.1066_1067	CCDS32041.1	14																																																																																			ARHGEF40	-	NULL	ENSG00000165801		0.629	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1		0	41	0	-			21542956	1	tier1		no_errors	ENST00000298694	ensembl	human	known	74_37	in_frame_ins	18.60	35	8	INS	0.761:0.797	GAG	GAG	21542956	-	GAG	21542955	7	5	87	1	0	1	1	0	0	0	0	0	5948	412	15	0	1076	0	FLJ10357	14	21542955	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	490726	21542955	85806585	1334	24458											
CHD8	57680	genome.wustl.edu	37	chr14	21868338	21868339	+	In_Frame_Ins	INS	-	-	ATA																															tgatgtttcaagtgcttcttINSataactttcatcttggaaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:21868338_21868339insATA	ENST00000557364.1	-	24	4961_4962	c.4698_4699insTAT	c.(4696-4701)tataag>tatTATaag	p.1566_1567insY	CHD8_ENST00000399982.2_In_Frame_Ins_p.1566_1567insY|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_In_Frame_Ins_p.1287_1288insY|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1566					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGTGCTTCTTATAACTTTCAT	0.381																																																	0																																										SO:0001652	inframe_insertion	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4696_4698dupTAT	14.37:g.21868339_21868341dupATA	ENSP00000451601:p.Tyr1566_Tyr1566dup		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	In_Frame_Ins	INS	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.1566in_frame_insY	ENST00000557364.1	37	c.4699_4698	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.381	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1		0	55	0	-	NM_020920		21868339	-1	tier1		no_errors	ENST00000399982	ensembl	human	known	74_37	in_frame_ins	16.44	61	12	INS	1.000:1.000	ATA	ATA	21868339	-	ATA	21868338	7	5	87	1	0	1	1	0	0	0	0	0	3338	1763	61	0	3106	0	CHD8	14	21868338	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	325383	21868338	85481202	1335	24459											
HOMEZ	57594	genome.wustl.edu	37	chr14	23746015	23746018	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															gccgtcccgcatgatgagtaAaagagagaagggatttgaaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23746015_23746018delAAAG	ENST00000357460.5	-	2	583_586	c.419_422delCTTT	c.(418-423)tcttttfs	p.SF140fs	HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.SF142fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.SF142fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ATGATGAGTAAAAGAGAGAAGGGA	0.534																																																	0																																										SO:0001589	frameshift_variant	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.419_422delCTTT	14.37:g.23746015_23746018delAAAG	ENSP00000350049:p.Ser140fs		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S142fs	ENST00000357460.5	37	c.428_425	CCDS45085.1	14																																																																																			HOMEZ	-	NULL	ENSG00000215271		0.534	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2		0	45	0	AAAG	NM_020834		23746018	-1	tier1		no_errors	ENST00000431326	ensembl	human	known	74_37	frame_shift_del	22.22	35	10	DEL	0.996:0.996:0.999:1.000	-	-	23746018	AAAG	-	23746015	7	5	87	1	0	1	0	1	0	0	0	0	7308	14	1	0	1234	0	HOMEZ	14	23746015	Frame_Shift_Del	DEL	AAAG	TCGA-L5-A8NM-01A-11D-A37C-09	1877677	23746015	83603525	1336	24460											
HOMEZ	57594	genome.wustl.edu	37	chr14	23746069	23746069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacggtagactactcgggctCgagtctcttctatttcttca	7	14	9	11	3	4	1	1	0	3	1	7	3	4	1	0	2	1	2	0	2	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23746069C>T	ENST00000357460.5	-	2	532	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	HOMEZ_ENST00000561013.1_Missense_Mutation_p.R125Q|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R125Q	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TACTCGGGCTCGAGTCTCTTC	0.527																																																	0													139	138	138					14																	23746069		1889	4101	5990	SO:0001583	missense	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"Homeoboxes / ZF class"	20164	protein-coding gene	gene with protein product		608119	"KIAA1443"	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.368G>A	14.37:g.23746069C>T	ENSP00000350049:p.Arg123Gln		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R125Q	ENST00000357460.5	37	c.374	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917017	0.92249	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.64438	-0.1;-0.08	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.80105	0.4562	M	0.70595	2.14	0.53005	D	0.999961	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.79964	-0.1581	10	0.87932	D	0	-8.4829	19.6509	0.95805	0.0:1.0:0.0:0.0	.	125;123	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	Q	123;125	ENSP00000350049:R123Q;ENSP00000406579:R125Q	ENSP00000350049:R123Q	R	-	2	0	HOMEZ	22815909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.943000	0.63554	2.941000	0.99782	0.655000	0.94253	CGA	HOMEZ	-	NULL	ENSG00000215271		0.527	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2	-	0	61	0	C	NM_020834		23746069	-1	tier1	-	no_errors	ENST00000431326	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	T	T	23746069	C	T	23746069	3	4	87	1	0	0	0	0	1	0	0	0	7308	884	31	1	1288	1	HOMEZ	14	23746069	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	54	23746069	83603471	1337	24461											
MYH6	4624	genome.wustl.edu	37	chr14	23859522	23859522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcgatctgcacggacGtggccccgccggcctcttcc	4	9	10	18	5	4	0	1	0	3	0	6	2	5	1	5	3	1	1	5	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23859522G>A	ENST00000356287.3	-	25	3505	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Missense_Mutation_p.T1159M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1159					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCACGGACGTGGCCCCGCC	0.682																																																	0													8	10	9					14																	23859522		2059	4074	6133	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.3476C>T	14.37:g.23859522G>A	ENSP00000348634:p.Thr1159Met		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T1159M	ENST00000356287.3	37	c.3476	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	21.4	4.146530	0.77888	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.85258	-1.96;-1.96	4.25	4.25	0.50352	Myosin tail (1);	.	.	.	.	D	0.95053	0.8398	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97093	0.9792	9	0.87932	D	0	.	17.0442	0.86498	0.0:0.0:1.0:0.0	.	1159	P13533	MYH6_HUMAN	M	1159	ENSP00000386041:T1159M;ENSP00000348634:T1159M	ENSP00000348634:T1159M	T	-	2	0	MYH6	22929362	1.000000	0.71417	0.980000	0.43619	0.720000	0.41350	9.447000	0.97595	2.092000	0.63282	0.561000	0.74099	ACG	MYH6	-	pfam_Myosin_tail	ENSG00000197616		0.682	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	47	0	G			23859522	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	A	A	23859522	G	A	23859522	3	1	87	1	0	0	0	0	1	0	0	0	10076	1145	40	1	2399	1	MYH6	14	23859522	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	113453	23859522	83490018	1338	24462											
MYH6	4624	genome.wustl.edu	37	chr14	23862717	23862717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccagccatctcctctgttAggttcttcacctgccgacca	6	11	7	17	1	4	0	1	0	3	0	5	1	4	0	6	1	2	2	6	1	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23862717A>G	ENST00000356287.3	-	22	2968	c.2939T>C	c.(2938-2940)cTa>cCa	p.L980P	MYH6_ENST00000405093.3_Missense_Mutation_p.L980P			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	980					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCTCTGTTAGGTTCTTCAC	0.532																																																	0													173	171	172					14																	23862717		2203	4300	6503	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2939T>C	14.37:g.23862717A>G	ENSP00000348634:p.Leu980Pro		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L980P	ENST00000356287.3	37	c.2939	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	a	21.6	4.168380	0.78339	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.92149	-2.98;-2.98	5.12	5.12	0.69794	.	.	.	.	.	D	0.96956	0.9006	H	0.96970	3.915	0.80722	D	1	D	0.60160	0.987	P	0.59171	0.853	D	0.98281	1.0508	9	0.87932	D	0	.	15.2119	0.73230	1.0:0.0:0.0:0.0	.	980	P13533	MYH6_HUMAN	P	980	ENSP00000386041:L980P;ENSP00000348634:L980P	ENSP00000348634:L980P	L	-	2	0	MYH6	22932557	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.210000	0.77924	2.067000	0.61834	0.528000	0.53228	CTA	MYH6	-	NULL	ENSG00000197616		0.532	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	60	0	A			23862717	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	G	G	23862717	A	G	23862717	3	3	87	1	0	0	0	0	1	0	0	0	10076	420	15	4	2948	4	MYH6	14	23862717	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3195	23862717	83486823	1339	24463											
MYH7	4625	genome.wustl.edu	37	chr14	23891440	23891440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctccaggtccatgatgCtctcctgggtcagcttcagg	6	12	10	13	0	4	1	2	1	2	0	7	1	5	1	3	3	2	2	3	3	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:23891440C>A	ENST00000355349.3	-	25	3356	c.3194G>T	c.(3193-3195)aGc>aTc	p.S1065I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1065					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCCATGATGCTCTCCTGGGT	0.592																																																	0													155	120	132					14																	23891440		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3194G>T	14.37:g.23891440C>A	ENSP00000347507:p.Ser1065Ile		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1065I	ENST00000355349.3	37	c.3194	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840408	0.51057	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95447	-3.71	4.64	4.64	0.57946	.	.	.	.	.	D	0.96087	0.8725	M	0.88979	2.995	0.42193	D	0.991732	P	0.38729	0.644	B	0.44044	0.439	D	0.96364	0.9268	9	0.87932	D	0	.	9.894	0.41306	0.0:0.7793:0.142:0.0787	.	1065	P12883	MYH7_HUMAN	I	1065	ENSP00000347507:S1065I	ENSP00000347507:S1065I	S	-	2	0	MYH7	22961280	0.009000	0.17119	1.000000	0.80357	0.999000	0.98932	0.464000	0.21988	2.585000	0.87301	0.655000	0.94253	AGC	MYH7	-	superfamily_Prefoldin	ENSG00000092054		0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	79	0	C	NM_000257		23891440	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	17.07	68	14	SNP	1.000	A	A	23891440	C	A	23891440	3	1	87	1	0	0	0	0	1	0	0	0	10077	797	28	3	2677	3	MYH7	14	23891440	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	28723	23891440	83458100	1340	24464											
DHRS1	115817	genome.wustl.edu	37	chr14	24766024	24766024	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttgctcaaacaggcttcGcacttcactctcctggcttg	7	12	7	15	1	3	0	2	0	1	0	5	0	3	0	1	2	2	4	1	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24766024G>A	ENST00000288111.7	-	3	490	c.214C>T	c.(214-216)Cga>Tga	p.R72*	DHRS1_ENST00000396813.1_Nonsense_Mutation_p.R72*	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	72						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)	p.R72*(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AACAGGCTTCGCACTTCACTC	0.537											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Nonsense(2)	large_intestine(1)|endometrium(1)											146	115	126					14																	24766024		2203	4300	6503	SO:0001587	stop_gained	0			AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	16445	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 19C, member 1"	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.214C>T	14.37:g.24766024G>A	ENSP00000288111:p.Arg72*	773	D3DS71|Q8NDG3|Q96B59|Q96CQ5	Nonsense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH	p.R72*	ENST00000288111.7	37	c.214	CCDS9623.1	14	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832004	0.91036	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	.	.	.	4.99	1.8	0.24995	.	0.793753	0.11664	N	0.541483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-20.4236	5.6525	0.17625	0.0947:0.0:0.461:0.4443	.	.	.	.	X	72	.	ENSP00000288111:R72X	R	-	1	2	DHRS1	23835864	0.001000	0.12720	0.004000	0.12327	0.880000	0.50808	0.462000	0.21956	0.148000	0.19059	-0.302000	0.09304	CGA	DHRS1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000157379		0.537	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS1	HGNC	protein_coding	OTTHUMT00000073168.4	-	0	48	0	G	NM_138452		24766024	-1	tier1	-	no_errors	ENST00000288111	ensembl	human	known	74_37	nonsense	29.03	22	9	SNP	0.007	A	A	24766024	G	A	24766024	4	1	87	1	0	0	0	0	0	1	0	0	4500	1095	38	1	755	1	DHRS1	14	24766024	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	874584	24766024	82583516	1341	24465											
C14orf21	161424	genome.wustl.edu	37	chr14	24774255	24774255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggaacagcagcagggtgCggtggccaagcggaggcggg	8	4	21	8	3	0	0	0	0	0	0	0	2	0	2	1	7	5	2	1	7	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24774255C>T	ENST00000267425.3	+	10	1958	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	622							poly(A) RNA binding (GO:0044822)										CAGCAGGGTGCGGTGGCCAAG	0.572																																																	0													47	43	44					14																	24774255		2203	4300	6503	SO:0001583	missense	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 21", "NOP9 nucleolar protein homolog (yeast)"	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1865C>T	14.37:g.24774255C>T	ENSP00000267425:p.Ala622Val		A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.A622V	ENST00000267425.3	37	c.1865	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563101	0.65538	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	T	0.33654	1.4	5.75	4.86	0.63082	.	0.251124	0.38326	N	0.001740	T	0.21227	0.0511	N	0.19112	0.55	0.80722	D	1	B	0.33739	0.422	B	0.22753	0.041	T	0.05273	-1.0895	10	0.38643	T	0.18	-1.7554	11.8566	0.52441	0.0:0.9183:0.0:0.0817	.	622	Q86U38	CN021_HUMAN	V	622;173	ENSP00000267425:A622V	ENSP00000267425:A622V	A	+	2	0	C14orf21	23844095	0.979000	0.34478	0.321000	0.25320	0.995000	0.86356	2.780000	0.47742	1.436000	0.47453	0.655000	0.94253	GCG	NOP9	-	NULL	ENSG00000196943		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	-	0	74	0	C			24774255	1	tier1	-	no_errors	ENST00000267425	ensembl	human	known	74_37	missense	16.44	61	12	SNP	0.901	T	T	24774255	C	T	24774255	3	4	87	1	0	0	0	0	1	0	0	0	1774	768	27	1	1903	1	C14orf21	14	24774255	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	8231	24774255	82575285	1342	24466											
ADCY4	196883	genome.wustl.edu	37	chr14	24795358	24795358	+	Frame_Shift_Del	DEL	G	G	-																															cagttcatcatctagtccccGgggggtacggctcctgcaca																								rs201057600		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24795358delG	ENST00000310677.4	-	13	1695	c.1582delC	c.(1582-1584)cggfs	p.R528fs	ADCY4_ENST00000554068.2_Frame_Shift_Del_p.R528fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.R528fs|ADCY4_ENST00000396747.3_Frame_Shift_Del_p.R221fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	528					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCTAGTCCCCGGGGGGTACGG	0.602																																																	0													63	61	61					14																	24795358		2203	4300	6503	SO:0001589	frameshift_variant	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1582delC	14.37:g.24795358delG	ENSP00000312126:p.Arg528fs		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Frame_Shift_Del	DEL	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R528fs	ENST00000310677.4	37	c.1582	CCDS9627.1	14																																																																																			ADCY4	-	pfam_Adenylate_cyclase-like	ENSG00000129467		0.602	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4		0	31	0	G			24795358	-1	tier1		no_errors	ENST00000310677	ensembl	human	known	74_37	frame_shift_del	29.63	19	8	DEL	0.554	-	-	24795358	G	-	24795358	7	5	87	1	0	1	0	1	0	0	0	0	296	1115	39	0	1707	0	ADCY4	14	24795358	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	21103	24795358	82554182	1343	24467											
CMA1	1215	genome.wustl.edu	37	chr14	24975364	24975364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagagtgtctgagcccGgcttcaacacacctgttctt	7	12	9	13	1	3	2	1	1	2	1	3	2	3	2	2	1	3	3	2	1	1	4	rs139700002	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:24975364G>A	ENST00000250378.3	-	4	499	c.470C>T	c.(469-471)cCg>cTg	p.P157L	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.P46L	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	157	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTCTGAGCCCGGCTTCAACAC	0.577																																																	0													61	54	57					14																	24975364		2203	4300	6503	SO:0001583	missense	0				CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.470C>T	14.37:g.24975364G>A	ENSP00000250378:p.Pro157Leu		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P157L	ENST00000250378.3	37	c.470	CCDS9630.1	14	.	.	.	.	.	.	.	.	.	.	G	8.543	0.873686	0.17322	.	.	ENSG00000092009	ENST00000250378;ENST00000206446	T;T	0.58652	0.32;0.32	5.37	2.5	0.30297	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.769745	0.11804	N	0.527823	T	0.37999	0.1024	N	0.17631	0.505	0.09310	N	0.999999	B	0.28208	0.203	B	0.27076	0.076	T	0.27839	-1.0062	10	0.49607	T	0.09	.	4.0423	0.09756	0.0861:0.16:0.5881:0.1658	.	157	P23946	CMA1_HUMAN	L	157;46	ENSP00000250378:P157L;ENSP00000206446:P46L	ENSP00000206446:P46L	P	-	2	0	CMA1	24045204	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.802000	0.27069	0.377000	0.24735	0.655000	0.94253	CCG	CMA1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000092009		0.577	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMA1	HGNC	protein_coding	OTTHUMT00000276535.2	-	0	37	0	G			24975364	-1	tier1	-	no_errors	ENST00000250378	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.000	A	A	24975364	G	A	24975364	3	1	87	1	0	0	0	0	1	0	0	0	3581	1116	39	1	281	1	CMA1	14	24975364	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	180006	24975364	82374176	1344	24468											
FOXG1	2290	genome.wustl.edu	37	chr14	29237758	29237758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccacgtcccgcacccgTcaatgacttcgcagagcagc	8	6	8	19	4	1	2	1	1	0	1	4	2	3	2	4	0	2	3	4	0	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:29237758T>C	ENST00000313071.4	+	1	1472	c.1273T>C	c.(1273-1275)Tca>Cca	p.S425P	FOXG1_ENST00000382535.3_Missense_Mutation_p.S425P	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	425					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCCGCACCCGTCAATGACTTC	0.657																																																	0													55	49	51					14																	29237758		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1273T>C	14.37:g.29237758T>C	ENSP00000339004:p.Ser425Pro		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S425P	ENST00000313071.4	37	c.1273	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553357	0.27739	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93811	-3.29;-3.29	4.14	4.14	0.48551	.	0.072579	0.56097	U	0.000024	D	0.90810	0.7114	N	0.14661	0.345	0.51233	D	0.999918	D	0.65815	0.995	P	0.56278	0.795	D	0.90504	0.4476	10	0.37606	T	0.19	.	13.4664	0.61256	0.0:0.0:0.0:1.0	.	425	P55316	FOXG1_HUMAN	P	425	ENSP00000371975:S425P;ENSP00000339004:S425P	ENSP00000339004:S425P	S	+	1	0	FOXG1	28307509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.819000	0.62664	1.633000	0.50488	0.402000	0.26972	TCA	FOXG1	-	NULL	ENSG00000176165		0.657	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3		0	53	0	T			29237758	1			no_errors	ENST00000313071	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	C	C	29237758	T	C	29237758	3	2	87	1	0	0	0	0	1	0	0	0	6031	1667	58	4	1275	4	FOXG1	14	29237758	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	4262394	29237758	78111782	1345	24469											
PRKD1	5587	genome.wustl.edu	37	chr14	30046584	30046584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatacttctcccacctcaGgtcatcactttcatgggtga	8	13	7	13	0	5	1	4	1	1	0	6	1	5	1	2	2	2	1	2	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:30046584G>T	ENST00000331968.5	-	18	2828	c.2599C>A	c.(2599-2601)Ctg>Atg	p.L867M	PRKD1_ENST00000415220.2_Missense_Mutation_p.L875M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	867					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCCCACCTCAGGTCATCACTT	0.498																																																	0													146	128	134					14																	30046584		2203	4300	6503	SO:0001583	missense	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2599C>A	14.37:g.30046584G>T	ENSP00000333568:p.Leu867Met		A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.L867M	ENST00000331968.5	37	c.2599	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961523	0.34565	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.66099	-0.19;-0.19	6.03	0.795	0.18643	Protein kinase-like domain (1);	0.508110	0.19082	N	0.123214	T	0.46328	0.1387	N	0.24115	0.695	0.22171	N	0.999315	B	0.19817	0.039	B	0.26693	0.072	T	0.43081	-0.9413	10	0.66056	D	0.02	-0.9467	9.5651	0.39394	0.6669:0.0:0.3331:0.0	.	867	Q15139	KPCD1_HUMAN	M	867;875	ENSP00000333568:L867M;ENSP00000390535:L875M	ENSP00000333568:L867M	L	-	1	2	PRKD1	29116335	0.004000	0.15560	0.293000	0.24932	0.953000	0.61014	0.092000	0.15066	-0.056000	0.13221	-0.290000	0.09829	CTG	PRKD1	-	superfamily_Kinase-like_dom	ENSG00000184304		0.498	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	-	0	55	0	G	NM_002742		30046584	-1	tier1	-	no_errors	ENST00000331968	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.029	T	T	30046584	G	T	30046584	3	4	87	1	0	0	0	0	1	0	0	0	12560	991	35	3	143	3	PRKD1	14	30046584	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	808826	30046584	77302956	1346	24470											
SCFD1	23256	genome.wustl.edu	37	chr14	31091582	31091582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcgacagcagcagcagcagCcagtattcgggaaaggcaga	14	3	14	10	2	0	1	0	0	0	1	1	3	0	2	1	2	6	6	1	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:31091582C>T	ENST00000458591.2	+	1	265	c.38C>T	c.(37-39)gCc>gTc	p.A13V	SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR|SCFD1_ENST00000544052.2_5'UTR|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	13	Poly-Ala.				post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		gcagcagcagcCAGTATTCGG	0.637																																																	0													62	43	49					14																	31091582		2128	4146	6274	SO:0001583	missense	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.38C>T	14.37:g.31091582C>T	ENSP00000390783:p.Ala13Val		A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.A13V	ENST00000458591.2	37	c.38	CCDS9639.1	14	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548402	0.65311	.	.	ENSG00000092108	ENST00000458591	T	0.28666	1.6	5.45	4.54	0.55810	.	0.174741	0.49305	D	0.000149	T	0.15739	0.0379	N	0.08118	0	0.38986	D	0.959043	B	0.13594	0.008	B	0.14023	0.01	T	0.09378	-1.0677	10	0.17369	T	0.5	-11.883	12.4075	0.55449	0.0:0.8308:0.1692:0.0	.	13	Q8WVM8	SCFD1_HUMAN	V	13	ENSP00000390783:A13V	ENSP00000309417:A21V	A	+	2	0	SCFD1	30161333	0.266000	0.24112	0.043000	0.18650	0.816000	0.46133	0.145000	0.16157	1.385000	0.46445	0.655000	0.94253	GCC	SCFD1	-	superfamily_Sec1-like	ENSG00000092108		0.637	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	-	0	91	0	C	NM_182835		31091582	1	tier1	-	no_errors	ENST00000458591	ensembl	human	known	74_37	missense	12.36	78	11	SNP	0.068	T	T	31091582	C	T	31091582	3	4	87	1	0	0	0	0	1	0	0	0	13934	739	26	3	40	3	SCFD1	14	31091582	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1044998	31091582	76257958	1347	24471											
SCFD1	23256	genome.wustl.edu	37	chr14	31107414	31107414	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggaagatattgcaaaTgcagcgttagcagctagtgc	14	9	11	7	1	0	1	0	0	0	1	0	2	0	2	0	1	7	5	0	1	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:31107414T>C	ENST00000458591.2	+	5	623	c.396T>C	c.(394-396)aaT>aaC	p.N132N	SCFD1_ENST00000396629.2_Silent_p.N40N|SCFD1_ENST00000421551.3_Silent_p.N73N|SCFD1_ENST00000544052.2_Silent_p.N65N|SCFD1_ENST00000541123.1_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	132					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		ATATTGCAAATGCAGCGTTAG	0.318																																																	0													68	62	64					14																	31107414		2203	4300	6503	SO:0001819	synonymous_variant	0			AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 163"	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.396T>C	14.37:g.31107414T>C			A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.N132	ENST00000458591.2	37	c.396	CCDS9639.1	14																																																																																			SCFD1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000092108		0.318	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD1	HGNC	protein_coding	OTTHUMT00000276612.3	-	0	53	0	T	NM_182835		31107414	1	tier1	-	no_errors	ENST00000458591	ensembl	human	known	74_37	silent	25.00	36	12	SNP	1.000	C	C	31107414	T	C	31107414	2	2	87	1	0	0	0	0	0	0	0	1	13934	1461	51	4		4	SCFD1	14	31107414	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	15832	31107414	76242126	1348	24472											
AKAP6	9472	genome.wustl.edu	37	chr14	33293133	33293133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctatcagcaacatttcctgTtgcaactgtgagccagatgt	10	13	8	10	0	2	2	1	1	1	1	3	2	3	2	2	0	5	3	2	0	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:33293133T>C	ENST00000280979.4	+	13	6284	c.6114T>C	c.(6112-6114)tgT>tgC	p.C2038C	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2038					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACATTTCCTGTTGCAACTGTG	0.428																																					Melanoma(49;821 1200 7288 13647 42351)												0													83	79	80					14																	33293133		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"A-kinase anchor proteins"	376	protein-coding gene	gene with protein product	"protein kinase A anchoring protein 6"	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6114T>C	14.37:g.33293133T>C			A7E242|A7E2D4|O15028	Silent	SNP	smart_Spectrin/alpha-actinin	p.C2038	ENST00000280979.4	37	c.6114	CCDS9644.1	14																																																																																			AKAP6	-	NULL	ENSG00000151320		0.428	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	-	0	25	0	T	NM_004274		33293133	1	tier1	-	no_errors	ENST00000280979	ensembl	human	known	74_37	silent	17.86	23	5	SNP	1.000	C	C	33293133	T	C	33293133	2	2	87	1	0	0	0	0	0	0	0	1	455	1731	60	4		4	AKAP6	14	33293133	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2185719	33293133	74056407	1349	24473											
NPAS3	64067	genome.wustl.edu	37	chr14	34269189	34269189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcagatcaaggtggagcGctacgtggagagcgagtcgg	10	6	18	7	4	1	2	1	0	0	2	2	6	1	3	0	4	4	2	0	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:34269189G>A	ENST00000356141.4	+	12	1676	c.1676G>A	c.(1675-1677)cGc>cAc	p.R559H	NPAS3_ENST00000346562.2_Missense_Mutation_p.R527H|NPAS3_ENST00000357798.5_Missense_Mutation_p.R546H|NPAS3_ENST00000548645.1_Missense_Mutation_p.R529H|NPAS3_ENST00000551492.1_Missense_Mutation_p.R564H			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	559					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAGGTGGAGCGCTACGTGGAG	0.672																																																	0													42	42	42					14																	34269189		2203	4300	6503	SO:0001583	missense	0			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"Basic helix-loop-helix proteins"	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1676G>A	14.37:g.34269189G>A	ENSP00000348460:p.Arg559His		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.R559H	ENST00000356141.4	37	c.1676	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439306	0.83885	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.72051	-0.62;3.37;3.37;3.37;3.37;3.23	5.19	5.19	0.71726	.	0.056076	0.64402	D	0.000001	T	0.54647	0.1871	N	0.08118	0	0.80722	D	1	B;B;B;B	0.14012	0.009;0.005;0.009;0.009	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.51803	-0.8659	10	0.49607	T	0.09	.	18.6933	0.91592	0.0:0.0:1.0:0.0	.	529;559;527;546	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	H	533;564;527;529;559;546	ENSP00000448373:R533H;ENSP00000450392:R564H;ENSP00000319610:R527H;ENSP00000448916:R529H;ENSP00000348460:R559H;ENSP00000350446:R546H	ENSP00000319610:R527H	R	+	2	0	NPAS3	33338940	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.301000	0.72782	2.391000	0.81399	0.555000	0.69702	CGC	NPAS3	-	NULL	ENSG00000151322		0.672	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	-	0	63	0	G			34269189	1	tier1	-	no_errors	ENST00000356141	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	A	A	34269189	G	A	34269189	3	1	87	1	0	0	0	0	1	0	0	0	10603	1087	38	1	1777	1	NPAS3	14	34269189	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	976056	34269189	73080351	1350	24474											
NKX2-1	7080	genome.wustl.edu	37	chr14	36986897	36986897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgccgcccccgccgccGccgctgtcctgctgcagttg	1	6	11	23	6	0	0	0	0	0	0	1	0	1	0	9	0	2	4	9	0	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:36986897G>A	ENST00000518149.1	-	3	1307	c.702C>T	c.(700-702)ggC>ggT	p.G234G	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Silent_p.G264G|NKX2-1_ENST00000522719.2_Silent_p.G234G|NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000498187.2_Silent_p.G234G			P43699	NKX21_HUMAN	NK2 homeobox 1	234	Poly-Gly.				anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		ccccgccgccgccgctgtcct	0.697			A		NSCLC																																			Dom	yes		14	14q13	7080	NK2 homeobox 1		E	0													9	8	8					14																	36986897		2180	4253	6433	SO:0001819	synonymous_variant	0				CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"Homeoboxes / ANTP class : NKL subclass"	11825	protein-coding gene	gene with protein product		600635	"benign chorea", "thyroid transcription factor 1"	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000518149.1:c.702C>T	14.37:g.36986897G>A			D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G264	ENST00000518149.1	37	c.792	CCDS9659.1	14																																																																																			NKX2-1	-	NULL	ENSG00000136352		0.697	NKX2-1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NKX2-1	HGNC	protein_coding	OTTHUMT00000376225.2		0	59	0	G	NM_003317		36986897	-1			no_errors	ENST00000354822	ensembl	human	known	74_37	silent	17.78	37	8	SNP	1.000	A	A	36986897	G	A	36986897	2	1	87	1	0	0	0	0	0	0	0	1	10488	1074	38	1		1	NKX2-1	14	36986897	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2717708	36986897	70362643	1351	24475											
FANCM	57697	genome.wustl.edu	37	chr14	45644288	45644288	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagggagaatgcagctaTgaattggaagttgaatctta	14	13	11	3	0	1	3	0	2	1	1	1	5	1	4	0	2	2	3	0	2	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:45644288T>C	ENST00000267430.5	+	14	2416	c.2331T>C	c.(2329-2331)taT>taC	p.Y777Y	FANCM_ENST00000542564.2_Silent_p.Y751Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	777					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATGCAGCTATGAATTGGAAG	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													56	56	56					14																	45644288		2202	4298	6500	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2331T>C	14.37:g.45644288T>C			B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y777	ENST00000267430.5	37	c.2331	CCDS32070.1	14																																																																																			FANCM	-	NULL	ENSG00000187790		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0	38	0	T	XM_048128		45644288	1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	silent	25.64	29	10	SNP	1.000	C	C	45644288	T	C	45644288	2	2	87	1	0	0	0	0	0	0	0	1	5693	1471	51	4		4	FANCM	14	45644288	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	8657391	45644288	61705252	1352	24476											
MAP4K5	11183	genome.wustl.edu	37	chr14	50901268	50901268	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaaaacattcaaaggacTtggcaaaggaaaatcaaagt	20	8	7	6	0	3	0	3	0	0	0	3	2	3	2	0	3	1	1	0	3	7	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:50901268T>A	ENST00000013125.4	-	27	2326	c.2008A>T	c.(2008-2010)Agt>Tgt	p.S670C		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	670	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTCAAAGGACTTGGCAAAGGA	0.373																																																	0													45	39	41					14																	50901268		1849	4085	5934	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"	6867	protein-coding gene	gene with protein product	"germinal center kinase-related"	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2008A>T	14.37:g.50901268T>A	ENSP00000013125:p.Ser670Cys		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.S670C	ENST00000013125.4	37	c.2008		14	.	.	.	.	.	.	.	.	.	.	T	18.82	3.704146	0.68615	.	.	ENSG00000012983	ENST00000013125	T	0.73363	-0.74	4.96	4.96	0.65561	Citron-like (3);	0.119774	0.85682	D	0.000000	T	0.65249	0.2673	N	0.04508	-0.205	0.58432	D	0.999999	B;P	0.49783	0.006;0.928	B;P	0.53988	0.03;0.739	T	0.69250	-0.5194	10	0.33141	T	0.24	.	14.6592	0.68858	0.0:0.0:0.0:1.0	.	670;670	B2R928;Q9Y4K4	.;M4K5_HUMAN	C	670	ENSP00000013125:S670C	ENSP00000013125:S670C	S	-	1	0	MAP4K5	49971018	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.148000	0.71788	1.861000	0.53984	0.454000	0.30748	AGT	MAP4K5	-	pfam_Citron,smart_Citron	ENSG00000012983		0.373	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0	43	0	T	NM_006575		50901268	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	A	A	50901268	T	A	50901268	3	1	87	1	0	0	0	0	1	0	0	0	9301	1609	56	5	556	5	MAP4K5	14	50901268	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	5256980	50901268	56448272	1353	24477											
ATL1	51062	genome.wustl.edu	37	chr14	51026987	51026987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctcctggaccaccatgGccaagaaccgcagggacaga	12	3	11	15	1	0	2	0	0	0	2	1	4	1	4	6	3	2	2	6	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:51026987G>A	ENST00000358385.6	+	1	245	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	ATL1_ENST00000357032.3_Missense_Mutation_p.A2T|ATL1_ENST00000441560.2_Missense_Mutation_p.A2T|ATL1_ENST00000354525.4_Missense_Mutation_p.A2T|ATL1_ENST00000556478.2_3'UTR	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	2					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GACCACCATGGCCAAGAACCG	0.642																																																	0													72	62	66					14																	51026987		2203	4300	6503	SO:0001583	missense	0			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"atlastin"	606439	"spastic paraplegia 3A (autosomal dominant)"	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.4G>A	14.37:g.51026987G>A	ENSP00000351155:p.Ala2Thr		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C	p.A2T	ENST00000358385.6	37	c.4	CCDS9700.1	14	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166582	0.57476	.	.	ENSG00000198513	ENST00000441560;ENST00000555960;ENST00000553509;ENST00000358385;ENST00000357032;ENST00000354525	T;T;T;T;T	0.78924	-1.22;0.77;-1.22;-1.22;-1.22	5.54	4.63	0.57726	.	0.405962	0.25408	N	0.030894	T	0.67040	0.2851	N	0.24115	0.695	0.37483	D	0.916087	B;B	0.23591	0.053;0.088	B;B	0.28553	0.042;0.091	T	0.68827	-0.5306	10	0.87932	D	0	-8.1916	11.6662	0.51374	0.0:0.0:0.8225:0.1775	.	2;2	Q8WXF7;G5E9T1	ATLA1_HUMAN;.	T	2	ENSP00000413675:A2T;ENSP00000452506:A2T;ENSP00000351155:A2T;ENSP00000349534:A2T;ENSP00000346522:A2T	ENSP00000346522:A2T	A	+	1	0	ATL1	50096737	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.746000	0.62133	1.316000	0.45131	-0.500000	0.04577	GCC	ATL1	-	NULL	ENSG00000198513		0.642	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	-	0	49	0	G			51026987	1	tier1	-	no_errors	ENST00000357032	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	A	A	51026987	G	A	51026987	3	1	87	1	0	0	0	0	1	0	0	0	1107	1203	42	3	6	3	ATL1	14	51026987	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	125719	51026987	56322553	1354	24478											
TRIM9	114088	genome.wustl.edu	37	chr14	51475876	51475876	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaagtcaaagtccgtggTcatccttggagtgagtgtgc	9	11	12	9	1	3	1	3	1	0	0	5	2	5	2	2	2	1	0	2	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:51475876T>G	ENST00000298355.3	-	5	2349	c.1228A>C	c.(1228-1230)Acc>Ccc	p.T410P	TRIM9_ENST00000360392.4_Missense_Mutation_p.T410P|TRIM9_ENST00000338969.5_Missense_Mutation_p.T410P	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	410	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					AAGTCCGTGGTCATCCTTGGA	0.507																																																	0													208	147	168					14																	51475876		2203	4300	6503	SO:0001583	missense	0			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Fibronectin type III domain containing"	16288	protein-coding gene	gene with protein product		606555	"tripartite motif-containing 9"			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.1228A>C	14.37:g.51475876T>G	ENSP00000298355:p.Thr410Pro		D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.T410P	ENST00000298355.3	37	c.1228	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816516	0.50527	.	.	ENSG00000100505	ENST00000298355;ENST00000338969;ENST00000360392	T;T;T	0.70869	-0.36;-0.52;0.55	5.94	5.94	0.96194	COS domain (1);	0.087536	0.85682	D	0.000000	T	0.50309	0.1608	N	0.03608	-0.345	0.44492	D	0.997439	B;B;B	0.14438	0.001;0.01;0.001	B;B;B	0.15052	0.005;0.012;0.002	T	0.48547	-0.9026	10	0.41790	T	0.15	.	15.5887	0.76506	0.0:0.0:0.0:1.0	.	410;410;410	Q9C026-5;Q9C026-4;Q9C026	.;.;TRIM9_HUMAN	P	410	ENSP00000298355:T410P;ENSP00000342970:T410P;ENSP00000353561:T410P	ENSP00000298355:T410P	T	-	1	0	TRIM9	50545626	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.997000	0.88414	2.275000	0.75901	0.528000	0.53228	ACC	TRIM9	-	NULL	ENSG00000100505		0.507	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	HGNC	protein_coding	OTTHUMT00000276874.1		0	46	0	T	NM_015163		51475876	-1			no_errors	ENST00000338969	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	G	G	51475876	T	G	51475876	3	3	87	1	0	0	0	0	1	0	0	0	16597	1667	58	4	978	4	TRIM9	14	51475876	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	448889	51475876	55873664	1355	24479											
FRMD6	122786	genome.wustl.edu	37	chr14	52169254	52169254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgaccaatttgggcctcctAtgatcatccacttccgtgtg	7	13	8	13	2	1	1	1	1	0	0	5	2	4	1	5	1	0	0	5	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:52169254A>T	ENST00000344768.5	+	5	515	c.319A>T	c.(319-321)Atg>Ttg	p.M107L	FRMD6_ENST00000356218.4_Missense_Mutation_p.M99L|FRMD6_ENST00000395718.2_Missense_Mutation_p.M99L|FRMD6_ENST00000554167.1_Missense_Mutation_p.M30L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	107	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGGGCCTCCTATGATCATCCA	0.403																																																	0													209	215	213					14																	52169254		2203	4300	6503	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"expanded homolog"	614555	"chromosome 14 open reading frame 31"	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.319A>T	14.37:g.52169254A>T	ENSP00000343899:p.Met107Leu		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.M107L	ENST00000344768.5	37	c.319	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	A	5.957	0.360625	0.11296	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000555936;ENST00000554167	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;1.2;-0.4	5.81	5.81	0.92471	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	N	0.04959	-0.14	0.80722	D	1	B;B;B	0.15719	0.014;0.01;0.008	B;B;B	0.15052	0.007;0.012;0.007	T	0.53927	-0.8369	10	0.02654	T	1	.	16.1623	0.81730	1.0:0.0:0.0:0.0	.	30;107;99	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	L	99;99;107;38;30	ENSP00000348550:M99L;ENSP00000379068:M99L;ENSP00000343899:M107L;ENSP00000451453:M38L;ENSP00000451977:M30L	ENSP00000343899:M107L	M	+	1	0	FRMD6	51239004	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	7.251000	0.78297	2.223000	0.72356	0.533000	0.62120	ATG	FRMD6	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000139926		0.403	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	-	0	64	0	A	NM_152330		52169254	1	tier1	-	no_errors	ENST00000344768	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.998	T	T	52169254	A	T	52169254	3	4	87	1	0	0	0	0	1	0	0	0	6078	449	16	5	309	5	FRMD6	14	52169254	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	693378	52169254	55180286	1356	24480											
DDHD1	80821	genome.wustl.edu	37	chr14	53527857	53527857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttaccttaaattttaagGcaggtgtttgtgtcatagat	10	17	8	6	0	1	1	1	0	0	1	2	1	2	1	2	2	1	2	2	2	5	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:53527857G>A	ENST00000323669.5	-	8	1828	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	DDHD1_ENST00000357758.3_Missense_Mutation_p.A610V|DDHD1_ENST00000395606.1_Missense_Mutation_p.A617V	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	610					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AAATTTTAAGGCAGGTGTTTG	0.348																																																	0													152	139	143					14																	53527857		2203	4300	6503	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1829C>T	14.37:g.53527857G>A	ENSP00000327104:p.Ala610Val		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.A610V	ENST00000323669.5	37	c.1829	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499635	0.64298	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	.	.	.	6.07	6.07	0.98685	.	0.090808	0.85682	D	0.000000	T	0.44623	0.1302	L	0.33485	1.01	0.39743	D	0.971779	B;B;B;B	0.25351	0.001;0.098;0.124;0.098	B;B;B;B	0.25291	0.002;0.049;0.059;0.033	T	0.35475	-0.9787	9	0.12430	T	0.62	-15.9212	12.8046	0.57605	0.0814:0.0:0.9186:0.0	.	6;617;610;610	Q2VYF2;G5E9D1;Q8NEL9;Q8NEL9-2	.;.;DDHD1_HUMAN;.	V	610;617;610;481	.	ENSP00000327104:A610V	A	-	2	0	DDHD1	52597607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.064000	0.71169	2.885000	0.99019	0.655000	0.94253	GCC	DDHD1	-	NULL	ENSG00000100523		0.348	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	-	0	42	0	G			53527857	-1	tier1	-	no_errors	ENST00000323669	ensembl	human	known	74_37	missense	12.31	57	8	SNP	1.000	A	A	53527857	G	A	53527857	3	1	87	1	0	0	0	0	1	0	0	0	4335	1203	42	3	897	3	DDHD1	14	53527857	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1358603	53527857	53821683	1357	24481											
OTX2	5015	genome.wustl.edu	37	chr14	57271049	57271049	+	Frame_Shift_Del	DEL	G	G	-																															cctctcccggcgctgtttccGgggggtggctgcgggacaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:57271049delG	ENST00000555006.1	-	3	514	c.106delC	c.(106-108)cggfs	p.R36fs	OTX2_ENST00000554788.1_Intron|OTX2_ENST00000339475.5_Frame_Shift_Del_p.R44fs|OTX2_ENST00000408990.3_Frame_Shift_Del_p.R36fs|OTX2_ENST00000554559.1_Intron			P32243	OTX2_HUMAN	orthodenticle homeobox 2	36					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R44fs*52(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CGCTGTTTCCGGGGGGTGGCT	0.632																																																	1	Insertion - Frameshift(1)	large_intestine(1)											36	37	37					14																	57271049		2203	4300	6503	SO:0001589	frameshift_variant	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"Homeoboxes / PRD class"	8522	protein-coding gene	gene with protein product		600037	"orthodenticle homolog 2 (Drosophila)"			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.106delC	14.37:g.57271049delG	ENSP00000452336:p.Arg36fs		B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Frame_Shift_Del	DEL	pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF	p.R44fs	ENST00000555006.1	37	c.130	CCDS41960.1	14																																																																																			OTX2	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom	ENSG00000165588		0.632	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1		0	56	0	G	NM_021728.		57271049	-1	tier1		no_errors	ENST00000339475	ensembl	human	known	74_37	frame_shift_del	12.77	41	6	DEL	0.947	-	-	57271049	G	-	57271049	7	5	87	1	0	1	0	1	0	0	0	0	11360	1115	39	0	771	0	OTX2	14	57271049	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	3743192	57271049	50078491	1358	24482											
SNAPC1	6617	genome.wustl.edu	37	chr14	62242910	62242911	+	Frame_Shift_Ins	INS	-	-	T																															ctcagcttgataaaggatgaINStttttttgacaatattaaga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:62242910_62242911insT	ENST00000216294.4	+	5	736_737	c.632_633insT	c.(631-636)gattttfs	p.DF211fs	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	211	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ATAAAGGATGATTTTTTTGACA	0.356																																					NSCLC(27;223 907 37180 39193 46568)												2	Insertion - Frameshift(2)	large_intestine(1)|ovary(1)																																								SO:0001589	frameshift_variant	0			Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"small nuclear RNA activating complex, polypeptide 1, 43kD"			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.639dupT	14.37:g.62242917_62242917dupT	ENSP00000216294:p.Asp211fs			Frame_Shift_Ins	INS	pfam_SNAPc_SNAP43	p.D214fs	ENST00000216294.4	37	c.632_633	CCDS9755.1	14																																																																																			SNAPC1	-	NULL	ENSG00000023608		0.356	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC1	HGNC	protein_coding	OTTHUMT00000276976.2		0	54	0	-	NM_003082		62242911	1	tier1		no_errors	ENST00000216294	ensembl	human	known	74_37	frame_shift_ins	9.23	59	6	INS	1.000:0.961	T	T	62242911	-	T	62242910	7	5	87	1	0	1	1	0	0	0	0	0	14879	333	12	0	650	0	SNAPC1	14	62242910	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	4971861	62242910	45106630	1359	24483											
SYNE2	23224	genome.wustl.edu	37	chr14	64443352	64443352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactgaagcttggctccaGgaggtagaagagcttatgga	13	8	13	7	0	0	3	0	1	0	2	1	5	1	5	1	4	3	4	1	4	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:64443352G>T	ENST00000344113.4	+	12	1412	c.1200G>T	c.(1198-1200)caG>caT	p.Q400H	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q400H|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q400H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	400					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTGGCTCCAGGAGGTAGAAG	0.393																																																	0													173	172	173					14																	64443352		1872	4102	5974	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1200G>T	14.37:g.64443352G>T	ENSP00000341781:p.Gln400His		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q400H	ENST00000344113.4	37	c.1200	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	9.794	1.178659	0.21787	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.56611	0.83;0.83;0.45	5.23	3.36	0.38483	.	0.442134	0.19405	N	0.115072	T	0.33556	0.0867	N	0.25890	0.77	0.58432	D	0.999998	B;B	0.17667	0.014;0.023	B;B	0.16289	0.007;0.015	T	0.08371	-1.0725	10	0.19147	T	0.46	.	6.4023	0.21646	0.1508:0.0:0.7004:0.1487	.	400;400	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	H	400	ENSP00000350719:Q400H;ENSP00000341781:Q400H;ENSP00000452570:Q400H	ENSP00000261678:Q400H	Q	+	3	2	SYNE2	63513105	1.000000	0.71417	0.046000	0.18839	0.229000	0.25112	1.010000	0.29898	1.174000	0.42811	0.561000	0.74099	CAG	SYNE2	-	NULL	ENSG00000054654		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	176	0	G	NM_182914		64443352	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	15.79	192	36	SNP	0.745	T	T	64443352	G	T	64443352	3	4	87	1	0	0	0	0	1	0	0	0	15493	991	35	3	1242	3	SYNE2	14	64443352	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2200442	64443352	42906188	1360	24484											
SYNE2	23224	genome.wustl.edu	37	chr14	64465666	64465666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatattcttgaacaccacCtgcaaaacaacaaattcagg	17	8	6	10	0	2	2	1	1	1	1	2	3	2	2	2	1	4	1	2	1	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:64465666C>A	ENST00000344113.4	+	27	3600	c.3388C>A	c.(3388-3390)Ctg>Atg	p.L1130M	SYNE2_ENST00000358025.3_Missense_Mutation_p.L1130M|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1130M	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1130					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGAACACCACCTGCAAAACAA	0.383																																																	0													125	118	120					14																	64465666		1867	4131	5998	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.3388C>A	14.37:g.64465666C>A	ENSP00000341781:p.Leu1130Met		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L1130M	ENST00000344113.4	37	c.3388	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	6.228	0.410269	0.11812	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.76186	-0.74;-0.73;-1.0	5.32	1.98	0.26296	.	0.000000	0.42420	D	0.000708	T	0.76506	0.3997	L	0.53249	1.67	0.27667	N	0.94689	D;D	0.67145	0.994;0.996	D;D	0.69479	0.922;0.964	T	0.64424	-0.6411	10	0.24483	T	0.36	.	5.1638	0.15075	0.0:0.5803:0.1699:0.2498	.	1130;1130	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	M	1130	ENSP00000350719:L1130M;ENSP00000341781:L1130M;ENSP00000452570:L1130M	ENSP00000261678:L1130M	L	+	1	2	SYNE2	63535419	0.456000	0.25744	0.092000	0.20876	0.183000	0.23260	1.042000	0.30303	0.738000	0.32606	0.655000	0.94253	CTG	SYNE2	-	NULL	ENSG00000054654		0.383	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	32	0	C	NM_182914		64465666	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.019	A	A	64465666	C	A	64465666	3	1	87	1	0	0	0	0	1	0	0	0	15493	680	24	3	3490	3	SYNE2	14	64465666	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	22314	64465666	42883874	1361	24485											
ESR2	2100	genome.wustl.edu	37	chr14	64723982	64723982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaaagatgagcttgccGgggtggtcaattgagcgcca	10	7	16	8	2	1	3	1	2	0	1	1	4	1	4	2	4	4	2	2	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:64723982G>A	ENST00000341099.4	-	6	1470	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	ESR2_ENST00000353772.3_Silent_p.P351P|ESR2_ENST00000542956.1_Silent_p.P351P|ESR2_ENST00000357782.2_Silent_p.P351P|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000358599.5_Silent_p.P351P|ESR2_ENST00000553796.1_Silent_p.P351P|ESR2_ENST00000554572.1_Silent_p.P351P|ESR2_ENST00000555278.1_Silent_p.P351P|ESR2_ENST00000557772.1_Silent_p.P351P|ESR2_ENST00000267525.6_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	351	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGAGCTTGCCGGGGTGGTCAA	0.498																																																	0													123	121	122					14																	64723982		2203	4300	6503	SO:0001819	synonymous_variant	0			X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"Nuclear hormone receptors"	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.1053C>T	14.37:g.64723982G>A			A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P351	ENST00000341099.4	37	c.1053	CCDS9762.1	14																																																																																			ESR2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000140009		0.498	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR2	HGNC	protein_coding	OTTHUMT00000280621.1	-	0	58	0	G			64723982	-1	tier1	-	no_errors	ENST00000341099	ensembl	human	known	74_37	silent	30.23	30	13	SNP	0.018	A	A	64723982	G	A	64723982	2	1	87	1	0	0	0	0	0	0	0	1	5273	1103	39	1		1	ESR2	14	64723982	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	258316	64723982	42625558	1362	24486											
FNTB	2342	genome.wustl.edu	37	chr14	65482414	65482414	+	Frame_Shift_Del	DEL	C	C	-																															gaactgctagatgaacccatCccccagatagtggctacaga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:65482414delC	ENST00000246166.2	+	4	588	c.354delC	c.(352-354)atcfs	p.I118fs	FNTB_ENST00000542227.1_Frame_Shift_Del_p.I72fs|AL139022.1_ENST00000577601.1_RNA|FNTB_ENST00000555742.1_3'UTR|CHURC1-FNTB_ENST00000549987.1_Frame_Shift_Del_p.I153fs|MAX_ENST00000341653.2_Intron|FNTB_ENST00000447296.2_Frame_Shift_Del_p.I152fs	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	118					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATGAACCCATCCCCCAGATAG	0.473																																																	0													116	103	107					14																	65482414		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.354delC	14.37:g.65482414delC	ENSP00000246166:p.Ile118fs		B2RDX6|B4E1A0	Frame_Shift_Del	DEL	pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	p.Q154fs	ENST00000246166.2	37	c.456	CCDS9769.1	14																																																																																			FNTB	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000257365		0.473	FNTB-001	KNOWN	basic|CCDS	protein_coding	FNTB	HGNC	protein_coding	OTTHUMT00000286392.1		0	99	0	C	NM_002028		65482414	1	tier1		no_errors	ENST00000447296	ensembl	human	known	74_37	frame_shift_del	14.94	74	13	DEL	0.999	-	-	65482414	C	-	65482414	7	5	87	1	0	1	0	1	0	0	0	0	6000	845	30	0	368	0	FNTB	14	65482414	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	758432	65482414	41867126	1363	24487											
MPP5	64398	genome.wustl.edu	37	chr14	67787969	67787969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatgtcttttaagtcttcGtacacaggtaaagctagaac	14	13	7	7	1	2	1	0	0	2	1	3	1	2	1	0	1	3	3	0	1	8	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:67787969G>A	ENST00000261681.4	+	13	2394	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	ATP6V1D_ENST00000553974.1_Intron|MPP5_ENST00000555925.1_Missense_Mutation_p.R544H	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	578	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TTAAGTCTTCGTACACAGGTA	0.368																																																	0													131	130	130					14																	67787969		2203	4300	6503	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"stardust"	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1733G>A	14.37:g.67787969G>A	ENSP00000261681:p.Arg578His		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R578H	ENST00000261681.4	37	c.1733	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	7.022	0.558806	0.13436	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.41758	0.99;0.99	5.14	3.28	0.37604	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.052254	0.85682	D	0.000000	T	0.07503	0.0189	N	0.00174	-1.93	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41734	-0.9492	10	0.02654	T	1	.	5.3934	0.16257	0.3483:0.0:0.6517:0.0	.	578	Q8N3R9	MPP5_HUMAN	H	578;544	ENSP00000261681:R578H;ENSP00000451488:R544H	ENSP00000261681:R578H	R	+	2	0	MPP5	66857722	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.257000	0.78362	2.364000	0.80123	0.563000	0.77884	CGT	MPP5	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000072415		0.368	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	-	0	52	0	G	NM_022474		67787969	1	tier1	-	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	20.59	54	14	SNP	1.000	A	A	67787969	G	A	67787969	3	1	87	1	0	0	0	0	1	0	0	0	9775	1145	40	1	1775	1	MPP5	14	67787969	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2305555	67787969	39561571	1364	24488											
TMEM229B	161145	genome.wustl.edu	37	chr14	67940219	67940219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccttgtcgaagcggaggCggagggtgttgcggatgatg	6	9	19	7	5	0	1	0	1	0	0	2	5	1	4	1	5	2	1	1	5	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:67940219C>T	ENST00000557006.1	-	4	704	c.422G>A	c.(421-423)cGc>cAc	p.R141H	TMEM229B_ENST00000357461.2_Missense_Mutation_p.R141H			Q8NBD8	T229B_HUMAN	transmembrane protein 229B	141						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GAAGCGGAGGCGGAGGGTGTT	0.647																																																	0													54	55	55					14																	67940219		2203	4300	6503	SO:0001583	missense	0			AK090706	CCDS9783.1	14q23.3-q24.1	2009-09-22	2009-09-22	2009-09-22	ENSG00000198133	ENSG00000198133			20130	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 83"	C14orf83			Standard	NM_182526		Approved	FLJ33387	uc001xjk.3	Q8NBD8		ENST00000557006.1:c.422G>A	14.37:g.67940219C>T	ENSP00000451774:p.Arg141His			Missense_Mutation	SNP	pfam_DUF1113_TMEM229	p.R141H	ENST00000557006.1	37	c.422	CCDS9783.1	14	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327010	0.81690	.	.	ENSG00000198133	ENST00000557006;ENST00000357461	.	.	.	4.4	4.4	0.53042	.	0.174028	0.52532	D	0.000069	T	0.53546	0.1803	L	0.39397	1.21	0.80722	D	1	P	0.46064	0.872	B	0.43225	0.412	T	0.61028	-0.7145	9	0.59425	D	0.04	-19.1378	16.9889	0.86348	0.0:1.0:0.0:0.0	.	141	Q8NBD8	T229B_HUMAN	H	141	.	ENSP00000350050:R141H	R	-	2	0	TMEM229B	67009972	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.001000	0.58596	0.555000	0.69702	CGC	TMEM229B	-	NULL	ENSG00000198133		0.647	TMEM229B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM229B	HGNC	protein_coding	OTTHUMT00000412718.2	-	0	69	0	C	NM_182526		67940219	-1	tier1	-	no_errors	ENST00000357461	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	T	T	67940219	C	T	67940219	3	4	87	1	0	0	0	0	1	0	0	0	16195	768	27	1	85	1	TMEM229B	14	67940219	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	152250	67940219	39409321	1365	24489											
ZFYVE26	23503	genome.wustl.edu	37	chr14	68229514	68229514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcaactaaaatattcaGcacatctaccttgctgatgt	14	11	6	10	0	2	1	1	1	1	0	2	1	2	1	1	0	6	4	1	0	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:68229514G>A	ENST00000347230.4	-	33	6172	c.6034C>T	c.(6034-6036)Ctg>Ttg	p.L2012L	ZFYVE26_ENST00000555452.1_Silent_p.L2012L|ZFYVE26_ENST00000557306.1_5'Flank	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2012					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AAAATATTCAGCACATCTACC	0.488																																																	0													75	67	70					14																	68229514		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"Zinc fingers, FYVE domain containing"	20761	protein-coding gene	gene with protein product	"spastizin", "FYVE-CENT"	612012	"spastic paraplegia 15 (complicated, autosomal recessive)"	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.6034C>T	14.37:g.68229514G>A			B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L2012	ENST00000347230.4	37	c.6034	CCDS9788.1	14																																																																																			ZFYVE26	-	NULL	ENSG00000072121		0.488	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2		0	30	0	G	NM_015346		68229514	-1			no_errors	ENST00000347230	ensembl	human	known	74_37	silent	8.70	21	2	SNP	1.000	A	A	68229514	G	A	68229514	2	1	87	1	0	0	0	0	0	0	0	1	17716	962	34	3		3	ZFYVE26	14	68229514	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	289295	68229514	39120026	1366	24490											
C14orf181	677	genome.wustl.edu	37	chr14	69262957	69262957	+	5'Flank	DEL	G	G	-																															ggatgttcggttttgtgcaaGggggaaagtgaaagtcttcg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:69262957delG	ENST00000439696.2	-	0	0				ZFP36L1_ENST00000408913.2_Frame_Shift_Del_p.L19fs|ZFP36L1_ENST00000336440.3_5'Flank	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1						gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TTTTGTGCAAGGGGGAAAGTG	0.607																																																	0													75	87	83					14																	69262957		1754	3474	5228	SO:0001631	upstream_gene_variant	0			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"RING-type (C3HC4) zinc fingers"	1107	protein-coding gene	gene with protein product		601064	"zinc finger protein, C3H type, 36-like 1", "zinc finger protein 36, C3H type-like 1"	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352			14.37:g.69262957delG	Exception_encountered		Q13851	Frame_Shift_Del	DEL	NULL	p.A20fs	ENST00000439696.2	37	c.55	CCDS9791.1	14																																																																																			ZFP36L1	-	NULL	ENSG00000185650		0.607	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1		0	35	0	G			69262957	-1	tier1		no_errors	ENST00000408913	ensembl	human	known	74_37	frame_shift_del	26.32	28	10	DEL	0.000	-	-	69262957	G	-	69262957	6	5	87	0	1	1	0	1	0	0	0	0	1769	1000	35	0		0	C14orf181	14	69262957	5'Flank	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	1033443	69262957	38086583	1367	24491											
DPF3	8110	genome.wustl.edu	37	chr14	73159862	73159862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccccctcctcgctggccaGgtgagtgtgagcatagtggt	6	10	13	12	1	0	2	0	2	0	0	3	2	2	2	4	3	1	2	4	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73159862G>T	ENST00000556509.1	-	7	663	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.L232M|DPF3_ENST00000541685.1_Missense_Mutation_p.L222M	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	222					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCGCTGGCCAGGTGAGTGTGA	0.527																																																	0													137	142	141					14																	73159862		2067	4215	6282	SO:0001583	missense	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"Zinc fingers, PHD-type"	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.664C>A	14.37:g.73159862G>T	ENSP00000450518:p.Leu222Met		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L277M	ENST00000556509.1	37	c.829		14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544118	0.86022	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91068	-2.78;-0.23;-0.24	5.49	4.59	0.56863	Zinc finger, C2H2 (1);	.	.	.	.	D	0.94627	0.8268	M	0.77486	2.375	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.995	D;D;D	0.72338	0.977;0.977;0.969	D	0.94902	0.8057	9	0.87932	D	0	.	13.6886	0.62531	0.0739:0.0:0.9261:0.0	.	232;222;222	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	M	222;221;222;232	ENSP00000450518:L222M;ENSP00000441640:L222M;ENSP00000444662:L232M	ENSP00000381791:L277M	L	-	1	2	DPF3	72229615	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.329000	0.72920	2.573000	0.86826	0.561000	0.74099	CTG	DPF3	-	pfscan_Znf_C2H2	ENSG00000205683		0.527	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0	129	0	G			73159862	-1	tier1	-	no_errors	ENST00000366353	ensembl	human	known	74_37	missense	18.58	92	21	SNP	1.000	T	T	73159862	G	T	73159862	3	4	87	1	0	0	0	0	1	0	0	0	4732	991	35	3	421	3	DPF3	14	73159862	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3896905	73159862	34189678	1368	24492											
ZFYVE1	53349	genome.wustl.edu	37	chr14	73442396	73442396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccaacaggcgctgggCagcattgttgttgtccttca	6	11	11	13	2	1	0	1	0	0	0	3	0	3	0	3	2	2	5	3	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73442396C>T	ENST00000556143.1	-	9	2389	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.A557T|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.A543T|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.A142T|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.A142T|ZFYVE1_ENST00000554145.1_5'UTR	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	557					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGGCGCTGGGCAGCATTGTTG	0.532																																																	0													115	93	100					14																	73442396		2203	4300	6503	SO:0001583	missense	0			AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"Zinc fingers, FYVE domain containing"	13180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 172"	605471	"zinc finger protein, subfamily 2A (FYVE domain containing), 1"	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.1669G>A	14.37:g.73442396C>T	ENSP00000450742:p.Ala557Thr		J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.A557T	ENST00000556143.1	37	c.1669	CCDS9811.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.848620	0.97023	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143;ENST00000394207;ENST00000555072	T;T;T;T;T	0.71103	-0.54;-0.54;-0.53;-0.36;-0.36	6.17	6.17	0.99709	Zinc finger, FYVE/PHD-type (1);	0.048468	0.85682	D	0.000000	D	0.85371	0.5681	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.986	D;P	0.70935	0.971;0.655	D	0.84972	0.0883	10	0.66056	D	0.02	-26.715	20.8794	0.99867	0.0:1.0:0.0:0.0	.	557;557	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	T	557;543;557;142;142	ENSP00000452442:A557T;ENSP00000326921:A543T;ENSP00000450742:A557T;ENSP00000377757:A142T;ENSP00000452232:A142T	ENSP00000326921:A557T	A	-	1	0	ZFYVE1	72512149	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC	ZFYVE1	-	superfamily_Znf_FYVE_PHD,superfamily_Growth_fac_rcpt_N_dom	ENSG00000165861		0.532	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE1	HGNC	protein_coding	OTTHUMT00000413172.1	-	0	35	0	C	NM_021260		73442396	-1	tier1	-	no_errors	ENST00000553891	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	73442396	C	T	73442396	3	4	87	1	0	0	0	0	1	0	0	0	17711	710	25	3	680	3	ZFYVE1	14	73442396	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	282534	73442396	33907144	1369	24493											
RBM25	58517	genome.wustl.edu	37	chr14	73570072	73570072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggagcgggaacgagaacGggatagggaccgtgaccgga	12	2	19	8	6	0	2	0	1	0	1	0	8	0	7	2	5	3	0	2	5	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:73570072G>A	ENST00000261973.7	+	10	1325	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	RBM25_ENST00000527432.1_Missense_Mutation_p.R347Q	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	347	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaacgagaacgggatagggac	0.527																																																	0													154	131	139					14																	73570072		2203	4300	6503	SO:0001583	missense	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1040G>A	14.37:g.73570072G>A	ENSP00000261973:p.Arg347Gln		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom	p.R347Q	ENST00000261973.7	37	c.1040	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594151	0.66219	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.15603	2.41;2.41	5.75	5.75	0.90469	.	0.059729	0.64402	D	0.000002	T	0.31638	0.0803	L	0.46157	1.445	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.00814	-1.1555	10	0.18710	T	0.47	.	17.7126	0.88326	0.0:0.0:1.0:0.0	.	347	P49756	RBM25_HUMAN	Q	347	ENSP00000261973:R347Q;ENSP00000431150:R347Q	ENSP00000261973:R347Q	R	+	2	0	RBM25	72639825	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.547000	0.90665	2.712000	0.92718	0.655000	0.94253	CGG	RBM25	-	NULL	ENSG00000119707		0.527	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	-	0	21	0	G	XM_027330		73570072	1	tier1	-	no_errors	ENST00000261973	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	A	A	73570072	G	A	73570072	3	1	87	1	0	0	0	0	1	0	0	0	13170	1116	39	1	1074	1	RBM25	14	73570072	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	127676	73570072	33779468	1370	24494											
YLPM1	56252	genome.wustl.edu	37	chr14	75277022	75277023	+	Frame_Shift_Ins	INS	-	-	A																															tagcagatcatcgagattttINSaaaagggatcgtgagacaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:75277022_75277023insA	ENST00000552421.1	+	8	3133_3134	c.3009_3010insA	c.(3010-3012)aaafs	p.K1004fs	YLPM1_ENST00000325680.7_Frame_Shift_Ins_p.K1710fs|YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.K1515fs			P49750	YLPM1_HUMAN	YLP motif containing 1	1515	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATCGAGATTTTAAAAGGGATCG	0.45																																																	0																																										SO:0001589	frameshift_variant	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 169"		"chromosome 14 open reading frame 170"	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3013dupA	14.37:g.75277026_75277026dupA	ENSP00000447921:p.Lys1004fs		P49752|Q96I64|Q9P1V7	Frame_Shift_Ins	INS	superfamily_P-loop_NTPase	p.R1710fs	ENST00000552421.1	37	c.5127_5128		14																																																																																			YLPM1	-	NULL	ENSG00000119596		0.45	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1		0	51	0	-	NM_019589		75277023	1	tier1		no_errors	ENST00000325680	ensembl	human	known	74_37	frame_shift_ins	16.67	20	4	INS	1.000:1.000	A	A	75277023	-	A	75277022	7	5	87	1	0	1	1	0	0	0	0	0	17535	1751	61	0	5161	0	YLPM1	14	75277022	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1706950	75277022	32072518	1371	24495											
BATF	10538	genome.wustl.edu	37	chr14	76012941	76012941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggccgccagcacgccctCgccccccgaggtggtgtaca	5	5	13	18	4	0	0	0	0	0	0	1	1	0	0	6	3	2	3	6	3	1	1	rs559089643		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:76012941C>T	ENST00000286639.6	+	3	563	c.305C>T	c.(304-306)tCg>tTg	p.S102L	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	102					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGCACGCCCTCGCCCCCCGAG	0.647																																																	0													38	29	32					14																	76012941		2202	4300	6502	SO:0001583	missense	0			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"basic leucine zipper proteins"	958	protein-coding gene	gene with protein product	"activating transcription factor B", "SF-HT-activated gene 2"	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.305C>T	14.37:g.76012941C>T	ENSP00000286639:p.Ser102Leu			Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.S102L	ENST00000286639.6	37	c.305	CCDS9843.1	14	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409863	0.42715	.	.	ENSG00000156127	ENST00000286639	T	0.77620	-1.11	5.61	5.61	0.85477	.	0.284392	0.35838	N	0.002958	T	0.56156	0.1966	N	0.08118	0	0.80722	D	1	P	0.36535	0.557	B	0.17433	0.018	T	0.59968	-0.7354	10	0.26408	T	0.33	-11.0596	17.8178	0.88640	0.0:1.0:0.0:0.0	.	102	Q16520	BATF_HUMAN	L	102	ENSP00000286639:S102L	ENSP00000286639:S102L	S	+	2	0	BATF	75082694	0.775000	0.28604	0.999000	0.59377	0.149000	0.21700	6.770000	0.74990	2.636000	0.89361	0.655000	0.94253	TCG	BATF	-	NULL	ENSG00000156127		0.647	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF	HGNC	protein_coding	OTTHUMT00000413669.1	-	0	40	0	C	NM_006399		76012941	1	tier1	-	no_errors	ENST00000286639	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.991	T	T	76012941	C	T	76012941	3	4	87	1	0	0	0	0	1	0	0	0	1326	893	31	1	315	1	BATF	14	76012941	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	735919	76012941	31336599	1372	24496											
FLVCR2	55640	genome.wustl.edu	37	chr14	76045399	76045399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcggaccccagcgtctcGgtccatcccagcgtctcggt	6	7	11	17	5	2	0	0	0	2	0	6	1	4	1	4	3	3	0	4	3	1	0	rs548569935	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:76045399G>A	ENST00000238667.4	+	1	440	c.84G>A	c.(82-84)tcG>tcA	p.S28S	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	28	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCAGCGTCTCGGTCCATCCCA	0.637																																																	0													92	97	95					14																	76045399		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"Solute carriers"	20105	protein-coding gene	gene with protein product		610865	"chromosome 14 open reading frame 58", "feline leukemia virus subgroup C cellular receptor 2"	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.84G>A	14.37:g.76045399G>A			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.S28	ENST00000238667.4	37	c.84	CCDS9844.1	14																																																																																			FLVCR2	-	superfamily_Trimer_LpxA-like	ENSG00000119686		0.637	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	-	0	71	0	G	NM_017791		76045399	1	tier1	-	no_errors	ENST00000238667	ensembl	human	known	74_37	silent	37.50	35	21	SNP	0.002	A	A	76045399	G	A	76045399	2	1	87	1	0	0	0	0	0	0	0	1	5968	1103	39	1		1	FLVCR2	14	76045399	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	32458	76045399	31304141	1373	24497											
TTLL5	23093	genome.wustl.edu	37	chr14	76259374	76259374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttacagctgaacttcaGcggctagctgagaagcaggc	11	8	13	9	1	1	2	1	2	0	1	1	3	1	2	0	3	6	5	0	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:76259374G>A	ENST00000298832.9	+	27	3307	c.3102G>A	c.(3100-3102)caG>caA	p.Q1034Q	TTLL5_ENST00000556893.1_Silent_p.Q585Q|TTLL5_ENST00000554510.1_Silent_p.Q543Q|TTLL5_ENST00000557636.1_Silent_p.Q1049Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1034					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGAACTTCAGCGGCTAGCTG	0.478																																																	0													102	92	96					14																	76259374		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3102G>A	14.37:g.76259374G>A			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	pfam_TTL/TTLL_fam	p.Q1034	ENST00000298832.9	37	c.3102	CCDS32124.1	14																																																																																			TTLL5	-	NULL	ENSG00000119685		0.478	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	-	0	61	0	G	NM_015072		76259374	1	tier1	-	no_errors	ENST00000298832	ensembl	human	known	74_37	silent	19.05	34	8	SNP	1.000	A	A	76259374	G	A	76259374	2	1	87	1	0	0	0	0	0	0	0	1	16779	962	34	3		3	TTLL5	14	76259374	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	213975	76259374	31090166	1374	24498											
TMEM63C	57156	genome.wustl.edu	37	chr14	77719651	77719653	+	In_Frame_Del	DEL	GAG	GAG	-																															acctctccctgctgcagcccGaggaggaggagatccagaca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:77719651_77719653delGAG	ENST00000298351.4	+	23	2296_2298	c.2152_2154delGAG	c.(2152-2154)gagdel	p.E721del		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	721					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GCTGCAGCCCGAGGAGGAGGAGA	0.621																																																	0																																										SO:0001651	inframe_deletion	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"		"chromosome 14 open reading frame 171"	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.2152_2154delGAG	14.37:g.77719660_77719662delGAG	ENSP00000298351:p.Glu721del		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	In_Frame_Del	DEL	pfam_DUF221	p.E721in_frame_del	ENST00000298351.4	37	c.2152_2154	CCDS45141.1	14																																																																																			TMEM63C	-	NULL	ENSG00000165548		0.621	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1		0	33	0	GAG			77719653	1	tier1		no_errors	ENST00000298351	ensembl	human	known	74_37	in_frame_del	13.33	39	6	DEL	0.827:0.901:0.910	-	-	77719653	GAG	-	77719651	7	5	87	1	0	1	0	1	0	0	0	0	16239	1059	37	0	2234	0	TMEM63C	14	77719651	In_Frame_Del	DEL	GAG	TCGA-L5-A8NM-01A-11D-A37C-09	1460277	77719651	29629889	1375	24499											
STON2	85439	genome.wustl.edu	37	chr14	81737144	81737144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actcgacattcacgtgattgGcaaatctggaaggcacttcc	11	10	9	11	2	2	1	1	1	1	0	4	3	3	2	1	3	0	2	1	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:81737144G>A	ENST00000267540.2	-	5	2683	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V	STON2_ENST00000555447.1_Missense_Mutation_p.A828V	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	828	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.A828V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACGTGATTGGCAAATCTGGA	0.498																																																	1	Substitution - Missense(1)	prostate(1)											141	121	128					14																	81737144		2203	4300	6503	SO:0001583	missense	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2483C>T	14.37:g.81737144G>A	ENSP00000267540:p.Ala828Val		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.A828V	ENST00000267540.2	37	c.2483	CCDS9875.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.975694|1.975694	0.34848|0.34848	.|.	.|.	ENSG00000140022|ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540|ENST00000553821	T;T|.	0.19806|.	2.12;2.12|.	5.79|5.79	5.79|5.79	0.91817|0.91817	Clathrin adaptor, mu subunit, C-terminal (3);|.	0.258233|.	0.33477|.	N|.	0.004862|.	T|T	0.25975|0.25975	0.0633|0.0633	N|N	0.04018|0.04018	-0.295|-0.295	0.39072|0.39072	D|D	0.960733|0.960733	B;B|.	0.17465|.	0.022;0.018|.	B;B|.	0.15052|.	0.012;0.011|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|5	0.16420|.	T|.	0.52|.	-27.335|-27.335	7.5807|7.5807	0.27963|0.27963	0.1938:0.0:0.8062:0.0|0.1938:0.0:0.8062:0.0	.|.	828;828|.	Q8WXE9;G3V2T7|.	STON2_HUMAN;.|.	V|S	828;840;828|36	ENSP00000450857:A828V;ENSP00000267540:A828V|.	ENSP00000267540:A828V|.	A|P	-|-	2|1	0|0	STON2|STON2	80806897|80806897	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.681000|0.681000	0.39784|0.39784	3.734000|3.734000	0.55037|0.55037	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	GCC|CCA	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C	ENSG00000140022		0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1		0	20	0	G	NM_033104		81737144	-1			no_errors	ENST00000267540	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	81737144	G	A	81737144	3	1	87	1	0	0	0	0	1	0	0	0	15365	1203	42	3	236	3	STON2	14	81737144	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4017493	81737144	25612396	1376	24500											
EML5	161436	genome.wustl.edu	37	chr14	89163272	89163272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggtctctgtatcccataTatgaattgagggatctctac	11	14	8	8	0	2	2	0	2	2	0	5	3	3	3	1	2	1	1	1	2	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:89163272T>C	ENST00000380664.5	-	15	2262	c.2263A>G	c.(2263-2265)Ata>Gta	p.I755V	EML5_ENST00000352093.5_Missense_Mutation_p.I755V|EML5_ENST00000554922.1_Missense_Mutation_p.I755V			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	755						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTATCCCATATATGAATTGAG	0.333																																																	0													76	73	74					14																	89163272		1814	4081	5895	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2263A>G	14.37:g.89163272T>C	ENSP00000370039:p.Ile755Val		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I755V	ENST00000380664.5	37	c.2263	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	T	0.597	-0.830624	0.02734	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.60040	0.22;0.22;0.22	5.28	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.263661	0.34906	N	0.003588	T	0.27098	0.0664	N	0.04018	-0.295	0.36866	D	0.888681	B	0.02656	0.0	B	0.10450	0.005	T	0.19679	-1.0298	10	0.06891	T	0.86	-9.8592	8.3661	0.32387	0.0:0.2334:0.0:0.7666	.	755	Q05BV3	EMAL5_HUMAN	V	755	ENSP00000451998:I755V;ENSP00000298315:I755V;ENSP00000370039:I755V	ENSP00000298315:I755V	I	-	1	0	EML5	88233025	0.999000	0.42202	0.998000	0.56505	0.775000	0.43874	0.502000	0.22594	0.148000	0.19059	-0.256000	0.11100	ATA	EML5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165521		0.333	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	-	0	51	0	T			89163272	-1	tier1	-	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	C	C	89163272	T	C	89163272	3	2	87	1	0	0	0	0	1	0	0	0	5116	1406	49	4	3786	4	EML5	14	89163272	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	7426128	89163272	18186268	1377	24501											
EML5	161436	genome.wustl.edu	37	chr14	89181397	89181398	+	Frame_Shift_Ins	INS	-	-	T																															gatcccaaacactcgccaacINSttttttataacgctgagcaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:89181397_89181398insT	ENST00000380664.5	-	9	1328_1329	c.1329_1330insA	c.(1327-1332)aaagttfs	p.V444fs	EML5_ENST00000352093.5_Frame_Shift_Ins_p.V444fs|EML5_ENST00000554922.1_Frame_Shift_Ins_p.V444fs			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	444						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACTCGCCAACTTTTTTATAAC	0.391																																																	0																																										SO:0001589	frameshift_variant	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1330dupA	14.37:g.89181403_89181403dupT	ENSP00000370039:p.Val444fs		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Frame_Shift_Ins	INS	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V443fs	ENST00000380664.5	37	c.1330_1329	CCDS45148.1	14																																																																																			EML5	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000165521		0.391	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1		0	54	0	-			89181398	-1	tier1		no_errors	ENST00000554922	ensembl	human	known	74_37	frame_shift_ins	28.07	41	16	INS	0.989:0.969	T	T	89181398	-	T	89181397	7	5	87	1	0	1	1	0	0	0	0	0	5116	565	20	0	4743	0	EML5	14	89181397	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	18125	89181397	18168143	1378	24502											
TDP1	55775	genome.wustl.edu	37	chr14	90485719	90485719	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcacccagctgatgaTccgctcctacgagctcgggg	8	7	13	13	3	0	2	0	2	0	0	3	4	2	2	3	3	3	4	3	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:90485719T>A	ENST00000335725.4	+	15	1851	c.1601T>A	c.(1600-1602)aTc>aAc	p.I534N	TDP1_ENST00000393454.2_Missense_Mutation_p.I534N|TDP1_ENST00000357382.3_Missense_Mutation_p.I295N|TDP1_ENST00000555880.1_Missense_Mutation_p.I534N|TDP1_ENST00000393452.3_Missense_Mutation_p.I534N	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	534					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CAGCTGATGATCCGCTCCTAC	0.537								Repair of DNA-protein crosslinks																																									0													121	107	112					14																	90485719		2203	4300	6503	SO:0001583	missense	0			AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1601T>A	14.37:g.90485719T>A	ENSP00000337353:p.Ile534Asn		Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	pfam_Tyr-DNA_phospho	p.I534N	ENST00000335725.4	37	c.1601	CCDS9888.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.7|22.7	4.322591|4.322591	0.81580|0.81580	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000556063|ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880	.|T;T;T;T;T	.|0.71103	.|-0.54;-0.54;-0.54;-0.54;-0.54	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.226670	.|0.41605	.|D	.|0.000856	D|D	0.87700|0.87700	0.6243|0.6243	H|H	0.94264|0.94264	3.515|3.515	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.81914	.|0.984;0.995;0.991;0.995;0.991	D|D	0.90577|0.90577	0.4526|0.4526	5|10	.|0.59425	.|D	.|0.04	-15.8653|-15.8653	13.723|13.723	0.62740|0.62740	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|534;534;534;295;534	.|G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8	.|.;.;.;.;TYDP1_HUMAN	E|N	174|534;534;534;295;534	.|ENSP00000377098:I534N;ENSP00000377099:I534N;ENSP00000337353:I534N;ENSP00000349952:I295N;ENSP00000450628:I534N	.|ENSP00000337353:I534N	D|I	+|+	3|2	2|0	TDP1|TDP1	89555472|89555472	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.949000|6.949000	0.75971|0.75971	1.881000|1.881000	0.54492|0.54492	0.533000|0.533000	0.62120|0.62120	GAT|ATC	TDP1	-	pfam_Tyr-DNA_phospho	ENSG00000042088		0.537	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDP1	HGNC	protein_coding	OTTHUMT00000411239.1	-	0	48	0	T	NM_018319		90485719	1	tier1	-	no_errors	ENST00000335725	ensembl	human	known	74_37	missense	12.73	48	7	SNP	1.000	A	A	90485719	T	A	90485719	3	1	87	1	0	0	0	0	1	0	0	0	15775	1435	50	5	1651	5	TDP1	14	90485719	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1304322	90485719	16863821	1379	24503											
KCNK13	56659	genome.wustl.edu	37	chr14	90650656	90650657	+	Frame_Shift_Ins	INS	-	-	G																															caggagagcctgaaggatgcINSggggcagtgtgaggtggaca																								rs537906670|rs147541930	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:90650656_90650657insG	ENST00000282146.4	+	2	977_978	c.536_537insG	c.(535-540)gcggggfs	p.AG179fs		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	179					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTGAAGGATGCGGGGCAGTGTG	0.629																																																	0																																										SO:0001589	frameshift_variant	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.540dupG	14.37:g.90650660_90650660dupG	ENSP00000282146:p.Ala179fs		B5TJL8|Q96E79	Frame_Shift_Ins	INS	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.Q181fs	ENST00000282146.4	37	c.536_537	CCDS9889.1	14																																																																																			KCNK13	-	NULL	ENSG00000152315		0.629	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1		0	28	0	-	NM_022054		90650657	1	tier1		no_errors	ENST00000282146	ensembl	human	known	74_37	frame_shift_ins	32.35	23	11	INS	0.001:0.000	G	G	90650657	-	G	90650656	7	5	87	1	0	1	1	0	0	0	0	0	8088	768	27	0	542	0	KCNK13	14	90650656	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	164937	90650656	16698884	1380	24504											
CPSF2	53981	genome.wustl.edu	37	chr14	92601793	92601795	+	In_Frame_Del	DEL	AGA	AGA	-																															tggaaaatagtcaaagatggAgaagaagaaattgtttatgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:92601793_92601795delAGA	ENST00000298875.4	+	6	783_785	c.498_500delAGA	c.(496-501)ggagaa>gga	p.E169del		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	169					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCAAAGATGGAGAAGAAGAAATT	0.374																																					Ovarian(78;28 1788 18702 44111)												0																																										SO:0001651	inframe_deletion	0			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.498_500delAGA	14.37:g.92601799_92601801delAGA	ENSP00000298875:p.Glu169del		B3KME1|Q6NSJ1|Q9H3W7	In_Frame_Del	DEL	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.E169in_frame_del	ENST00000298875.4	37	c.498_500	CCDS9902.1	14																																																																																			CPSF2	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000165934		0.374	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1		0	56	0	AGA			92601795	1	tier1		no_errors	ENST00000298875	ensembl	human	known	74_37	in_frame_del	12.96	47	7	DEL	0.997:1.000:1.000	-	-	92601795	AGA	-	92601793	7	5	87	1	0	1	0	1	0	0	0	0	3832	291	11	0	512	0	CPSF2	14	92601793	In_Frame_Del	DEL	AGA	TCGA-L5-A8NM-01A-11D-A37C-09	1951137	92601793	14747747	1381	24505											
ITPK1	3705	genome.wustl.edu	37	chr14	93429193	93429193	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcgagcagatcctgtcGtctagggcagaagggaggcc	8	6	18	9	2	1	2	0	0	1	2	3	4	2	3	2	5	1	2	2	5	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:93429193G>A	ENST00000267615.6	-	6	539	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ITPK1_ENST00000555495.1_Splice_Site_p.D3D|ITPK1_ENST00000354313.3_Splice_Site_p.D122D|ITPK1_ENST00000556603.2_Splice_Site_p.D122D|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	122	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AGATCCTGTCGTCTAGGGCAG	0.652																																																	0													87	68	74					14																	93429193		2203	4300	6503	SO:0001630	splice_region_variant	0			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"inositol 1,3,4-triphosphate 5/6 kinase"			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.365-1C>T	14.37:g.93429193G>A			Q9BTL6|Q9H2E7	Silent	SNP	pfam_Inositol_tetrakis-P_1-kinase	p.D122	ENST00000267615.6	37	c.366	CCDS9907.1	14																																																																																			ITPK1	-	pfam_Inositol_tetrakis-P_1-kinase	ENSG00000100605		0.652	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1	HGNC	protein_coding	OTTHUMT00000412421.2	-	0	45	0	G	NM_014216	Silent	93429193	-1	tier1	-	no_errors	ENST00000267615	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	A	A	93429193	G	A	93429193	5	1	87	1	0	0	0	0	0	0	1	0	7943	1159	40	1	950	1	ITPK1	14	93429193	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	827400	93429193	13920347	1382	24506											
SERPINA12	145264	genome.wustl.edu	37	chr14	94956095	94956095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtctgggtacagacacGtctacgaccctggggaattg	9	9	14	9	2	2	1	0	0	2	1	2	4	2	3	1	4	2	1	1	4	3	3	rs536943554		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:94956095G>A	ENST00000341228.2	-	5	1710	c.915C>T	c.(913-915)gaC>gaT	p.D305D	SERPINA12_ENST00000556881.1_Silent_p.D305D	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	305					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTACAGACACGTCTACGACCC	0.502																																																	0													127	99	109					14																	94956095		2203	4300	6503	SO:0001819	synonymous_variant	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.915C>T	14.37:g.94956095G>A				Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D305	ENST00000341228.2	37	c.915	CCDS9926.1	14																																																																																			SERPINA12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000165953		0.502	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	-	0	47	0	G	NM_173850		94956095	-1	tier1	-	no_errors	ENST00000341228	ensembl	human	known	74_37	silent	31.37	35	16	SNP	0.000	A	A	94956095	G	A	94956095	2	1	87	1	0	0	0	0	0	0	0	1	14134	1136	40	1		1	SERPINA12	14	94956095	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1526902	94956095	12393445	1383	24507											
DICER1	23405	genome.wustl.edu	37	chr14	95570269	95570269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggactcgctgagcaacGttctgcagttcacagacatt	10	9	11	11	2	2	2	1	1	1	1	3	3	2	3	0	2	3	5	0	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:95570269G>A	ENST00000526495.1	-	23	3755	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	DICER1_ENST00000541352.1_Missense_Mutation_p.T1155M|DICER1_ENST00000527414.1_Missense_Mutation_p.T1155M|DICER1_ENST00000393063.1_Missense_Mutation_p.T1155M|DICER1_ENST00000556045.1_Missense_Mutation_p.T53M|DICER1_ENST00000343455.3_Missense_Mutation_p.T1155M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1155					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCTGAGCAACGTTCTGCAGTT	0.438			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													63	65	64					14																	95570269		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3464C>T	14.37:g.95570269G>A	ENSP00000437256:p.Thr1155Met		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.T1155M	ENST00000526495.1	37	c.3464	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422826	0.11928	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	T;T;T;T;D;T	0.86297	0.39;0.39;0.39;0.39;-2.1;0.7	5.24	-0.982	0.10266	.	1.639400	0.02749	N	0.117274	T	0.75265	0.3826	N	0.19112	0.55	0.09310	N	1	P;P;B	0.39131	0.661;0.661;0.349	B;B;B	0.30401	0.115;0.051;0.072	T	0.66492	-0.5910	10	0.42905	T	0.14	1.5193	6.5345	0.22346	0.3315:0.1181:0.5504:0.0	.	53;1155;1155	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	M	1155;1155;1155;1155;53;1155	ENSP00000343745:T1155M;ENSP00000437256:T1155M;ENSP00000376783:T1155M;ENSP00000435681:T1155M;ENSP00000451041:T53M;ENSP00000444719:T1155M	ENSP00000343745:T1155M	T	-	2	0	DICER1	94640022	0.004000	0.15560	0.001000	0.08648	0.694000	0.40290	1.145000	0.31577	-0.259000	0.09432	-1.069000	0.02264	ACG	DICER1	-	NULL	ENSG00000100697		0.438	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	-	0	37	0	G			95570269	-1	tier1	-	no_errors	ENST00000343455	ensembl	human	known	74_37	missense	30.91	38	17	SNP	0.001	A	A	95570269	G	A	95570269	3	1	87	1	0	0	0	0	1	0	0	0	4535	1145	40	1	2332	1	DICER1	14	95570269	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	614174	95570269	11779271	1384	24508											
HHIPL1	84439	genome.wustl.edu	37	chr14	100118894	100118894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgggctgcgcaaccccGtggccatggtccatgccagg	7	5	13	16	3	0	0	0	0	0	0	1	0	1	0	6	4	4	2	6	4	2	0	rs145984890		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:100118894G>A	ENST00000330710.5	+	2	687	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	HHIPL1_ENST00000357223.2_Missense_Mutation_p.V197M	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	197					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGCAACCCCGTGGCCATGGT	0.667																																																	0								G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	57	49	52		589,589	4.8	1	14	dbSNP_134	52	0,8598		0,0,4299	no	missense,missense	HHIPL1	NM_001127258.1,NM_032425.4	21,21	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	197/783,197/609	100118894	1,13003	2203	4299	6502	SO:0001583	missense	0			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"KIAA1822"	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.589G>A	14.37:g.100118894G>A	ENSP00000330601:p.Val197Met		A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	pfam_SRCR,pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Srcr_rcpt-rel,superfamily_Quinoprot_gluc/sorb_DH,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.V197M	ENST00000330710.5	37	c.589	CCDS45162.1	14	.	.	.	.	.	.	.	.	.	.	g	18.70	3.680206	0.68042	2.27E-4	0.0	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.13901	2.55;2.55	4.83	4.83	0.62350	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.167322	0.37304	N	0.002144	T	0.33469	0.0864	L	0.52759	1.655	0.38896	D	0.957225	D;D	0.89917	1.0;0.995	D;P	0.79784	0.993;0.898	T	0.16247	-1.0409	10	0.87932	D	0	.	17.9404	0.89025	0.0:0.0:1.0:0.0	.	197;197	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	M	197	ENSP00000330601:V197M;ENSP00000349757:V197M	ENSP00000330601:V197M	V	+	1	0	HHIPL1	99188647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.263000	0.65507	2.207000	0.71202	0.655000	0.94253	GTG	HHIPL1	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000182218		0.667	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	-	0	49	0	G	XM_041566		100118894	1	tier1	rs145984890	no_errors	ENST00000330710	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	A	A	100118894	G	A	100118894	3	1	87	1	0	0	0	0	1	0	0	0	7120	1145	40	1	595	1	HHIPL1	14	100118894	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4548625	100118894	7230646	1385	24509											
YY1	7528	genome.wustl.edu	37	chr14	100706003	100706003	+	Missense_Mutation	SNP	G	G	A																															ggtgcccgcgccggccggcgGcgacgacgactacattgaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:100706003G>A	ENST00000262238.4	+	1	682	c.422G>A	c.(421-423)gGc>gAc	p.G141D	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	141	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCGGCCGGCGGCGACGACGAC	0.726																																																	0													27	31	30					14																	100706003		2191	4282	6473	SO:0001583	missense	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.422G>A	14.37:g.100706003G>A	ENSP00000262238:p.Gly141Asp		Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.G141D	ENST00000262238.4	37	c.422	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	G	4.752	0.139928	0.09083	.	.	ENSG00000100811	ENST00000262238	T	0.10192	2.9	2.34	1.32	0.21799	.	0.241411	0.33092	U	0.005286	T	0.02649	0.0080	N	0.01576	-0.805	0.28101	N	0.931401	B	0.33694	0.421	B	0.30495	0.116	T	0.45131	-0.9282	10	0.05436	T	0.98	.	9.2624	0.37621	0.0:0.225:0.775:0.0	.	141	P25490	TYY1_HUMAN	D	141	ENSP00000262238:G141D	ENSP00000262238:G141D	G	+	2	0	YY1	99775756	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	4.955000	0.63638	0.243000	0.21327	0.448000	0.29417	GGC	YY1	-	pirsf_TF_Yin_yang	ENSG00000100811		0.726	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	-	0	12	0	G	NM_003403		100706003	1	tier1	-	no_errors	ENST00000262238	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.984	A	A	100706003	G	A	100706003	3	1	87	1	0	0	0	0	1	0	0	0	17556	1203	42	3	424	3	YY1	14	100706003	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	587109	100706003	6643537	1386	24510	95	2									
YY1	7528	genome.wustl.edu	37	chr14	100706005	100706005	+	Missense_Mutation	SNP	G	G	A																															tgcccgcgccggccggcggcGacgacgactacattgaacaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:100706005G>A	ENST00000262238.4	+	1	684	c.424G>A	c.(424-426)Gac>Aac	p.D142N	RP11-638I2.4_ENST00000554537.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	142	Interaction with the SMAD1/SMAD4 complex.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				GGCCGGCGGCGACGACGACTA	0.731																																																	0													26	30	29					14																	100706005		2190	4281	6471	SO:0001583	missense	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"INO80 complex subunits", "Zinc fingers, C2H2-type"	12856	protein-coding gene	gene with protein product	"INO80 complex subunit S", "Yin and Yang 1 protein"	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.424G>A	14.37:g.100706005G>A	ENSP00000262238:p.Asp142Asn		Q14935	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.D142N	ENST00000262238.4	37	c.424	CCDS9957.1	14	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997235	0.74818	.	.	ENSG00000100811	ENST00000262238	T	0.10860	2.83	2.34	2.34	0.29019	.	0.067765	0.56097	U	0.000023	T	0.07234	0.0183	N	0.22421	0.69	0.47476	D	0.999439	B	0.21688	0.059	B	0.10450	0.005	T	0.28650	-1.0037	10	0.31617	T	0.26	.	11.5457	0.50693	0.0:0.0:1.0:0.0	.	142	P25490	TYY1_HUMAN	N	142	ENSP00000262238:D142N	ENSP00000262238:D142N	D	+	1	0	YY1	99775758	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	5.219000	0.65262	1.289000	0.44618	0.448000	0.29417	GAC	YY1	-	pirsf_TF_Yin_yang	ENSG00000100811		0.731	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1	-	0	11	0	G	NM_003403		100706005	1	tier1	-	no_errors	ENST00000262238	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	A	A	100706005	G	A	100706005	3	1	87	1	0	0	0	0	1	0	0	0	17556	1058	37	1	426	1	YY1	14	100706005	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2	100706005	6643535	1387	24511	95	2									
HSP90AA1	3320	genome.wustl.edu	37	chr14	102550810	102550810	+	Frame_Shift_Del	DEL	T	T	-																															catacaatttgatgttgttcTttttctttctgttttcaaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:102550810delT	ENST00000216281.8	-	6	1278	c.1073delA	c.(1072-1074)aagfs	p.K358fs	HSP90AA1_ENST00000334701.7_Frame_Shift_Del_p.K480fs|HSP90AA1_ENST00000441629.2_Frame_Shift_Del_p.K179fs	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	358					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GATGTTGTTCTTTTTCTTTCT	0.358																																																	0													86	72	76					14																	102550810		2203	4300	6503	SO:0001589	frameshift_variant	0			M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"Heat shock proteins / HSPC"	5253	protein-coding gene	gene with protein product		140571	"heat shock 90kD protein 1, alpha", "heat shock 90kDa protein 1, alpha"	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1073delA	14.37:g.102550810delT	ENSP00000216281:p.Lys358fs		A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Frame_Shift_Del	DEL	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.K480fs	ENST00000216281.8	37	c.1439	CCDS9967.1	14																																																																																			HSP90AA1	-	pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold	ENSG00000080824		0.358	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	HGNC	protein_coding	OTTHUMT00000414952.2		0	62	0	T	NM_005348		102550810	-1	tier1		no_errors	ENST00000334701	ensembl	human	known	74_37	frame_shift_del	30.77	27	12	DEL	1.000	-	-	102550810	T	-	102550810	7	5	87	1	0	1	0	1	0	0	0	0	7428	1609	56	0	1149	0	HSP90AA1	14	102550810	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	1844805	102550810	4798730	1388	24512											
MARK3	4140	genome.wustl.edu	37	chr14	103894732	103894732	+	Frame_Shift_Del	DEL	A	A	-																															tattctttctaggttgcaatAaaaataattgacaaaactca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:103894732delA	ENST00000429436.2	+	3	762	c.252delA	c.(250-252)atafs	p.I84fs	MARK3_ENST00000335102.5_Frame_Shift_Del_p.I84fs|MARK3_ENST00000216288.7_Frame_Shift_Del_p.I84fs|MARK3_ENST00000440884.3_Frame_Shift_Del_p.I84fs|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000303622.9_Frame_Shift_Del_p.I84fs|MARK3_ENST00000553942.1_Frame_Shift_Del_p.I84fs|MARK3_ENST00000416682.2_Frame_Shift_Del_p.I84fs	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGGTTGCAATAAAAATAATTG	0.284																																																	0													17	16	16					14																	103894732		1742	3995	5737	SO:0001589	frameshift_variant	0			M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.252delA	14.37:g.103894732delA	ENSP00000411397:p.Ile84fs		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I86fs	ENST00000429436.2	37	c.252	CCDS45165.1	14																																																																																			MARK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000075413		0.284	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	HGNC	protein_coding	OTTHUMT00000415144.1		0	68	0	A	NM_001128918		103894732	1	tier1		no_errors	ENST00000429436	ensembl	human	known	74_37	frame_shift_del	26.51	61	22	DEL	1.000	-	-	103894732	A	-	103894732	7	5	87	1	0	1	0	1	0	0	0	0	9352	352	13	0	262	0	MARK3	14	103894732	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1343922	103894732	3454808	1389	24513											
KIAA0284	283638	genome.wustl.edu	37	chr14	105354207	105354207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagccgcaagcccaccAtggccgaagcacgggctgtc	8	4	13	16	3	0	0	0	0	0	0	1	1	0	0	5	2	4	3	5	2	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105354207A>G	ENST00000414716.3	+	12	3859	c.3631A>G	c.(3631-3633)Atg>Gtg	p.M1211V	CEP170B_ENST00000418279.1_Missense_Mutation_p.M1141V|CEP170B_ENST00000453495.1_Missense_Mutation_p.M1212V|CEP170B_ENST00000556508.1_Missense_Mutation_p.M1141V	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1211						cytoplasm (GO:0005737)|microtubule (GO:0005874)											CAAGCCCACCATGGCCGAAGC	0.682																																																	0													6	9	8					14																	105354207		1993	4114	6107	SO:0001583	missense	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.3631A>G	14.37:g.105354207A>G	ENSP00000404151:p.Met1211Val		Q2KHR7|Q86TI7	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.M1212V	ENST00000414716.3	37	c.3634	CCDS45175.1	14	.	.	.	.	.	.	.	.	.	.	a	4.100	0.016596	0.07959	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.39406	1.14;1.09;1.14;1.08	3.95	-0.102	0.13613	.	0.861681	0.10242	N	0.698293	T	0.21227	0.0511	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.002	T	0.28364	-1.0046	10	0.02654	T	1	-8.7198	10.3285	0.43807	0.4975:0.0:0.5025:0.0	.	1211;1211;1141	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	V	1141;1211;1212;1141	ENSP00000451249:M1141V;ENSP00000404151:M1211V;ENSP00000407238:M1212V;ENSP00000415006:M1141V	ENSP00000404151:M1211V	M	+	1	0	KIAA0284	104425252	0.000000	0.05858	0.842000	0.33263	0.867000	0.49689	-0.085000	0.11250	-0.325000	0.08577	0.255000	0.18592	ATG	CEP170B	-	NULL	ENSG00000099814		0.682	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0	122	0	A	NM_001112726		105354207	1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	missense	13.89	93	15	SNP	0.074	G	G	105354207	A	G	105354207	3	3	87	1	0	0	0	0	1	0	0	0	8193	217	8	4	3673	4	KIAA0284	14	105354207	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1459475	105354207	1995333	1390	24514											
PLD4	122618	genome.wustl.edu	37	chr14	105398428	105398428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcctgctggtcggctgcGgactcaacacggaccccacc	6	6	12	17	4	1	0	1	0	0	0	2	2	1	2	4	4	4	2	4	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105398428G>A	ENST00000392593.4	+	9	1306	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R	PLD4_ENST00000540372.1_Missense_Mutation_p.G387R|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	380					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GGTCGGCTGCGGACTCAACAC	0.711																																																	0													18	23	22					14																	105398428		2059	4189	6248	SO:0001583	missense	0				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 175"	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.1138G>A	14.37:g.105398428G>A	ENSP00000376372:p.Gly380Arg		Q6UWD2	Missense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.G380R	ENST00000392593.4	37	c.1138	CCDS9995.2	14	.	.	.	.	.	.	.	.	.	.	G	15.25	2.779180	0.49891	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	T;T	0.22945	1.93;1.93	4.15	-0.47	0.12131	Phospholipase D/viral envelope (1);	0.307989	0.29876	N	0.010963	T	0.35711	0.0941	L	0.59436	1.845	0.80722	D	1	D;D	0.54601	0.959;0.967	P;P	0.54431	0.637;0.752	T	0.37430	-0.9706	10	0.87932	D	0	-9.5553	13.0844	0.59132	0.0:0.0:0.4896:0.5104	.	387;380	F5H2B5;Q96BZ4	.;PLD4_HUMAN	R	387;380	ENSP00000438677:G387R;ENSP00000376372:G380R	ENSP00000376372:G380R	G	+	1	0	PLD4	104469473	1.000000	0.71417	0.723000	0.30687	0.098000	0.18820	2.233000	0.43027	0.123000	0.18342	-0.408000	0.06270	GGA	PLD4	-	NULL	ENSG00000166428		0.711	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2	-	0	59	0	G	NM_138790		105398428	1	tier1	-	no_errors	ENST00000392593	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.999	A	A	105398428	G	A	105398428	3	1	87	1	0	0	0	0	1	0	0	0	12087	1117	39	1	1168	1	PLD4	14	105398428	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	44221	105398428	1951112	1391	24515											
AHNAK2	113146	genome.wustl.edu	37	chr14	105420232	105420232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtacccgcttttgaggacGcatcctgtctcttccctcgc	5	12	8	16	3	1	1	0	1	1	0	5	2	3	2	3	1	1	3	3	1	1	4	rs370578594		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105420232G>A	ENST00000333244.5	-	7	1675	c.1556C>T	c.(1555-1557)gCg>gTg	p.A519V	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	519						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTGAGGACGCATCCTGTCT	0.537																																																	0								G	VAL/ALA	1,3975		0,1,1987	93	98	96		1556	-5.6	0	14		96	0,8284		0,0,4142	no	missense	AHNAK2	NM_138420.2	64	0,1,6129	AA,AG,GG		0.0,0.0252,0.0082	benign	519/5796	105420232	1,12259	1988	4142	6130	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1556C>T	14.37:g.105420232G>A	ENSP00000353114:p.Ala519Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A519V	ENST00000333244.5	37	c.1556	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	10.03	1.240107	0.22711	2.52E-4	0.0	ENSG00000185567	ENST00000333244	T	0.02552	4.25	3.1	-5.55	0.02536	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.47394	-0.9121	9	0.31617	T	0.26	.	1.1087	0.01700	0.2732:0.1501:0.3591:0.2175	.	519	Q8IVF2	AHNK2_HUMAN	V	519	ENSP00000353114:A519V	ENSP00000353114:A519V	A	-	2	0	AHNAK2	104491277	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.123000	0.00290	-0.797000	0.04450	-0.340000	0.08031	GCG	AHNAK2	-	NULL	ENSG00000185567		0.537	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	82	0	G	NM_138420		105420232	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.000	A	A	105420232	G	A	105420232	3	1	87	1	0	0	0	0	1	0	0	0	415	1087	38	1	15835	1	AHNAK2	14	105420232	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	21804	105420232	1929308	1392	24516											
MTA1	9112	genome.wustl.edu	37	chr14	105929561	105929561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatcattgagtactactAcatgtggaagaccaccgaca	14	8	8	11	1	1	2	1	1	0	1	1	4	1	3	2	1	4	2	2	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105929561A>G	ENST00000331320.7	+	11	1197	c.983A>G	c.(982-984)tAc>tGc	p.Y328C	MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000405646.1_Missense_Mutation_p.Y311C|MTA1_ENST00000406191.1_Missense_Mutation_p.Y328C	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	328	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GAGTACTACTACATGTGGAAG	0.647																																																	0													121	113	116					14																	105929561		2203	4300	6503	SO:0001583	missense	0			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.983A>G	14.37:g.105929561A>G	ENSP00000333633:p.Tyr328Cys		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.Y328C	ENST00000331320.7	37	c.983	CCDS32169.1	14	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419100	0.83559	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	3.88	3.88	0.44766	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	D	0.86485	0.5944	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;0.984	D;P	0.91635	0.999;0.904	D	0.89659	0.3875	10	0.87932	D	0	-19.9099	11.5268	0.50584	1.0:0.0:0.0:0.0	.	120;328	Q59FW1;Q13330	.;MTA1_HUMAN	C	237;328;328;311;120	ENSP00000333633:Y328C;ENSP00000385702:Y328C;ENSP00000384180:Y311C;ENSP00000394106:Y120C	ENSP00000333633:Y328C	Y	+	2	0	MTA1	105000606	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.166000	0.94766	1.410000	0.46936	0.460000	0.39030	TAC	MTA1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000182979		0.647	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15	-	0	55	0	A			105929561	1	tier1	-	no_errors	ENST00000331320	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	G	G	105929561	A	G	105929561	3	3	87	1	0	0	0	0	1	0	0	0	9946	391	14	4	1025	4	MTA1	14	105929561	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	509329	105929561	1419979	1393	24517											
MTA1	9112	genome.wustl.edu	37	chr14	105936238	105936239	+	Frame_Shift_Ins	INS	-	-	G																															caccaaagtgcgcctgatccINSgggggggctccctgccccca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105936238_105936239insG	ENST00000331320.7	+	20	2120_2121	c.1906_1907insG	c.(1906-1908)cggfs	p.R636fs	MTA1_ENST00000435036.2_Frame_Shift_Ins_p.R176fs|MTA1_ENST00000405646.1_Frame_Shift_Ins_p.R619fs|RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Frame_Shift_Ins_p.R624fs	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	636					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GCGCCTGATCCGGGGGGGCTCC	0.663																																																	0																																										SO:0001589	frameshift_variant	0			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"GATA zinc finger domain containing"	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1913dupG	14.37:g.105936245_105936245dupG	ENSP00000333633:p.Arg636fs		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Frame_Shift_Ins	INS	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.S639fs	ENST00000331320.7	37	c.1906_1907	CCDS32169.1	14																																																																																			MTA1	-	NULL	ENSG00000182979		0.663	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15		0	84	0	-			105936239	1	tier1		no_errors	ENST00000331320	ensembl	human	known	74_37	frame_shift_ins	20.22	71	18	INS	0.998:0.999	G	G	105936239	-	G	105936238	7	5	87	1	0	1	1	0	0	0	0	0	9946	643	23	0	1984	0	MTA1	14	105936238	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	6677	105936238	1413302	1394	24518											
TMEM121	80757	genome.wustl.edu	37	chr14	105995579	105995579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctggaccgcatggagtaCgtgcgcaccttccgcaagcg	7	6	14	14	6	0	0	0	0	0	0	1	2	1	2	3	2	3	5	3	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr14:105995579C>T	ENST00000392519.2	+	2	572	c.408C>T	c.(406-408)taC>taT	p.Y136Y	TMEM121_ENST00000431372.1_Silent_p.Y136Y	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	136						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCATGGAGTACGTGCGCACCT	0.706																																																	0													11	10	11					14																	105995579		2179	4242	6421	SO:0001819	synonymous_variant	0				CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.408C>T	14.37:g.105995579C>T				Silent	SNP	NULL	p.Y136	ENST00000392519.2	37	c.408	CCDS10006.1	14																																																																																			TMEM121	-	NULL	ENSG00000184986		0.706	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM121	HGNC	protein_coding	OTTHUMT00000074621.2	-	0	79	0	C	NM_025268		105995579	1	tier1	-	no_errors	ENST00000392519	ensembl	human	known	74_37	silent	9.26	49	5	SNP	0.998	T	T	105995579	C	T	105995579	2	4	87	1	0	0	0	0	0	0	0	1	16082	547	19	1		1	TMEM121	14	105995579	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	59341	105995579	1353961	1395	24519											
MAGEL2	54551	genome.wustl.edu	37	chr15	23890893	23890894	+	Frame_Shift_Ins	INS	-	-	G																															acccgatgcctgggcctgctINSgggggggtagctggatttgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:23890893_23890894insG	ENST00000532292.1	-	1	281_282	c.187_188insC	c.(187-189)cagfs	p.Q63fs		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTGGGCCTGCTGGGGGGGTAGC	0.703																																																	0																																										SO:0001589	frameshift_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.188dupC	15.37:g.23890900_23890900dupG	ENSP00000433433:p.Gln63fs			Frame_Shift_Ins	INS	pfam_MAGE,pfscan_MAGE	p.Q63fs	ENST00000532292.1	37	c.188_187		15																																																																																			MAGEL2	-	NULL	ENSG00000254585		0.703	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2		0	26	0	-	NM_019066		23890894	-1	tier1		no_errors	ENST00000532292	ensembl	human	known	74_37	frame_shift_ins	35.00	13	7	INS	0.993:0.990	G	G	23890894	-	G	23890893	7	5	87	1	0	1	1	0	0	0	0	0	9227	1580	55	0	1756	0	MAGEL2	15	23890893	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09		23890893	78640499	1396	24520											
MAGEL2	54551	genome.wustl.edu	37	chr15	23891049	23891049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcctgccaggccagcGcctgtgtctgctgcacctcc	3	9	12	17	1	2	0	0	0	2	0	3	0	3	0	6	2	4	2	6	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:23891049G>A	ENST00000532292.1	-	1	126	c.32C>T	c.(31-33)gCg>gTg	p.A11V		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCAGGCCAGCGCCTGTGTCTG	0.662																																																	0													4	5	5					15																	23891049		1524	3354	4878	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.32C>T	15.37:g.23891049G>A	ENSP00000433433:p.Ala11Val			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.A11V	ENST00000532292.1	37	c.32		15	.	.	.	.	.	.	.	.	.	.	g	7.823	0.718222	0.15372	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.13	0.0132	0.14094	.	.	.	.	.	T	0.26521	0.0648	L	0.40543	1.245	0.09310	N	1	.	.	.	.	.	.	T	0.25537	-1.0129	5	.	.	.	.	2.7	0.05145	0.2583:0.0:0.5177:0.224	.	.	.	.	C	43	.	.	R	-	1	0	MAGEL2	21442142	0.000000	0.05858	0.055000	0.19348	0.305000	0.27757	-0.021000	0.12504	0.011000	0.14865	0.197000	0.17608	CGC	MAGEL2	-	NULL	ENSG00000254585		0.662	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	73	0	G	NM_019066		23891049	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.050	A	A	23891049	G	A	23891049	3	1	87	1	0	0	0	0	1	0	0	0	9227	1087	38	1	1912	1	MAGEL2	15	23891049	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	156	23891049	78640343	1397	24521											
SNRPN	6638	genome.wustl.edu	37	chr15	25221489	25221489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccagagcgtgaagaaaagCgggttttgggtctggtgttg	10	10	16	5	2	1	3	0	1	1	2	1	3	1	3	1	3	3	2	1	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:25221489C>T	ENST00000400100.1	+	9	1083	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	SNRPN_ENST00000346403.6_Missense_Mutation_p.R65W|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400097.1_Missense_Mutation_p.R65W|SNRPN_ENST00000400098.1_Missense_Mutation_p.R65W|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000390687.4_Missense_Mutation_p.R65W|SNRPN_ENST00000554227.2_Missense_Mutation_p.R69W|SNRPN_ENST00000444203.2_Missense_Mutation_p.R69W|SNRPN_ENST00000577565.1_Missense_Mutation_p.R65W	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	65					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGAAGAAAAGCGGGTTTTGGG	0.448									Prader-Willi syndrome																																								0													93	98	97					15																	25221489		1905	4121	6026	SO:0001583	missense	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.193C>T	15.37:g.25221489C>T	ENSP00000382972:p.Arg65Trp		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.R69W	ENST00000400100.1	37	c.205	CCDS10017.1	15	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692071	0.68271	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	4.21	2.34	0.29019	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.059779	0.64402	D	0.000007	T	0.76557	0.4004	H	0.99312	4.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74077	-0.3781	10	0.87932	D	0	-3.43	3.7429	0.08537	0.1931:0.6045:0.0:0.2024	.	69;65	B3KVR1;P63162	.;RSMN_HUMAN	W	65;65;65;69;65;69	ENSP00000382972:R65W;ENSP00000382970:R65W;ENSP00000382969:R65W;ENSP00000452342:R69W;ENSP00000375105:R65W;ENSP00000408767:R69W	ENSP00000375105:R65W	R	+	1	2	SNRPN	22772582	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.881000	0.28173	0.739000	0.32628	0.591000	0.81541	CGG	SNRPN	-	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.448	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0	59	0	C	NM_003097		25221489	1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	missense	11.32	47	6	SNP	1.000	T	T	25221489	C	T	25221489	3	4	87	1	0	0	0	0	1	0	0	0	14915	759	27	1	203	1	SNRPN	15	25221489	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1330440	25221489	77309903	1398	24522											
GABRA5	2558	genome.wustl.edu	37	chr15	27128522	27128522	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttccgacaaagctggaaAgatgaaaggcttcggtttaa	13	12	10	6	2	0	2	0	1	0	1	2	4	1	3	1	3	1	3	1	3	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:27128522A>C	ENST00000335625.5	+	6	1203	c.315A>C	c.(313-315)aaA>aaC	p.K105N	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.K105N|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.K105N	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	105					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AAAGCTGGAAAGATGAAAGGC	0.592																																																	0													108	117	114					15																	27128522		2083	4238	6321	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4079	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 5"	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.315A>C	15.37:g.27128522A>C	ENSP00000335592:p.Lys105Asn		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K105N	ENST00000335625.5	37	c.315	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855355	0.32791	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.4	-4.61	0.03380	Neurotransmitter-gated ion-channel ligand-binding (3);	0.041315	0.85682	D	0.000000	T	0.60064	0.2240	N	0.25426	0.745	0.58432	D	0.999993	B	0.23540	0.087	B	0.30716	0.119	T	0.29941	-0.9995	10	0.19590	T	0.45	.	11.0289	0.47761	0.2978:0.0:0.5903:0.1119	.	105	P31644	GBRA5_HUMAN	N	105;105;73;105;105;105;73	ENSP00000335592:K105N;ENSP00000347557:K105N;ENSP00000450653:K73N;ENSP00000382953:K105N;ENSP00000450806:K105N;ENSP00000450717:K105N;ENSP00000450529:K73N	ENSP00000335592:K105N	K	+	3	2	GABRA5	24679615	0.175000	0.23083	0.687000	0.30102	0.762000	0.43233	-0.271000	0.08572	-0.833000	0.04245	-0.441000	0.05720	AAA	GABRA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000186297		0.592	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	-	0	75	0	A			27128522	1	tier1	-	no_errors	ENST00000335625	ensembl	human	known	74_37	missense	27.27	48	18	SNP	0.904	C	C	27128522	A	C	27128522	3	2	87	1	0	0	0	0	1	0	0	0	6188	69	3	4	329	4	GABRA5	15	27128522	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1907033	27128522	75402870	1399	24523											
OCA2	4948	genome.wustl.edu	37	chr15	28171296	28171297	+	Frame_Shift_Ins	INS	-	-	A																															atcagaacaaagagcgctgcINSaaaaaacagaagggttgccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:28171296_28171297insA	ENST00000354638.3	-	19	2210_2211	c.2055_2056insT	c.(2053-2058)tttgcafs	p.A686fs	OCA2_ENST00000353809.5_Frame_Shift_Ins_p.A662fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	686					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAGAGCGCTGCAAAAAACAGAA	0.361									Oculocutaneous Albinism																																								0			GRCh37	CD051775|CI000292	OCA2	D|I																																				SO:0001589	frameshift_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"melanocyte-specific transporter protein"	611409	"oculocutaneous albinism II (pink-eye dilution (murine) homolog)", "eye color 3 (brown)", "eye color 2 (central brown)", "oculocutaneous albinism II (pink-eye dilution homolog, mouse)"	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2056dupT	15.37:g.28171302_28171302dupA	ENSP00000346659:p.Ala686fs		Q15211|Q15212|Q96EN1|Q9UMI5	Frame_Shift_Ins	INS	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.A685fs	ENST00000354638.3	37	c.2056_2055	CCDS10020.1	15																																																																																			OCA2	-	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.361	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1		0	38	0	-	NM_000275		28171297	-1	tier1		no_errors	ENST00000354638	ensembl	human	known	74_37	frame_shift_ins	25.81	23	8	INS	1.000:1.000	A	A	28171297	-	A	28171296	7	5	87	1	0	1	1	0	0	0	0	0	10854	710	25	0	484	0	OCA2	15	28171296	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1042774	28171296	74360096	1400	24524											
ARHGAP11B	89839	genome.wustl.edu	37	chr15	30926445	30926445	+	Frame_Shift_Del	DEL	T	T	-																															ttgcgggacttcttaagcagTtttttagggaactgccagag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:30926445delT	ENST00000428041.2	+	4	515	c.370delT	c.(370-372)tttfs	p.F125fs		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	125	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTTAAGCAGTTTTTTAGGGA	0.393																																																	0													26	27	26					15																	30926445		2196	4275	6471	SO:0001589	frameshift_variant	0			BC105788	CCDS32185.1	15q13.2	2011-07-13				ENSG00000187951		"Rho GTPase activating proteins"	15782	protein-coding gene	gene with protein product	"GAP (1-8)"		"family with sequence similarity 7, member B1"	FAM7B1		11829490	Standard	NM_001039841		Approved	B'-T	uc001zet.1	Q3KRB8		ENST00000428041.2:c.370delT	15.37:g.30926445delT	ENSP00000392760:p.Phe125fs			Frame_Shift_Del	DEL	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F125fs	ENST00000428041.2	37	c.370	CCDS32185.1	15																																																																																			ARHGAP11B	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000187951		0.393	ARHGAP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11B	HGNC	protein_coding	OTTHUMT00000430729.1		0	48	0	T	NM_001039841		30926445	1			no_errors	ENST00000428041	ensembl	human	known	74_37	frame_shift_del	33.33	18	9	DEL	1.000	0	-	30926445	T	-	30926445	7	5	87	1	0	1	0	1	0	0	0	0	864	1725	60	0	384	0	ARHGAP11B	15	30926445	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2755149	30926445	71604947	1401	24525											
OTUD7A	161725	genome.wustl.edu	37	chr15	31776544	31776544	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgacggcgacgtgctggcCgacgcaccagactcctcctt	6	7	11	17	6	0	1	0	0	0	1	3	4	3	1	5	2	1	2	5	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:31776544C>A	ENST00000307050.4	-	11	1826	c.1734G>T	c.(1732-1734)tcG>tcT	p.S578S	OTUD7A_ENST00000382902.1_Silent_p.S585S	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	578					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACGTGCTGGCCGACGCACCAG	0.711																																																	0													27	30	29					15																	31776544		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"OTU domain containing"	20718	protein-coding gene	gene with protein product		612024	"chromosome 15 open reading frame 16", "OTU domain containing 7", "OTU domain containing 7A"	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1734G>T	15.37:g.31776544C>A			Q8IWK5	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S585	ENST00000307050.4	37	c.1755	CCDS10026.1	15																																																																																			OTUD7A	-	NULL	ENSG00000169918		0.711	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7A	HGNC	protein_coding	OTTHUMT00000251393.2	-	0	54	0	C	NM_130901		31776544	-1	tier1	-	no_errors	ENST00000382902	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.847	A	A	31776544	C	A	31776544	2	1	87	1	0	0	0	0	0	0	0	1	11357	639	23	2		2	OTUD7A	15	31776544	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	850099	31776544	70754848	1402	24526											
RYR3	6263	genome.wustl.edu	37	chr15	33954455	33954455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgccctgggaaacagccGcgtggcctacgccctgtgca	6	6	14	15	4	0	0	0	0	0	0	0	1	0	1	4	2	5	1	4	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:33954455G>T	ENST00000389232.4	+	35	4794	c.4724G>T	c.(4723-4725)cGc>cTc	p.R1575L	RYR3_ENST00000415757.3_Missense_Mutation_p.R1575L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1575	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1575H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAACAGCCGCGTGGCCTAC	0.592																																																	1	Substitution - Missense(1)	endometrium(1)											59	59	59					15																	33954455		2061	4221	6282	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4724G>T	15.37:g.33954455G>T	ENSP00000373884:p.Arg1575Leu		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.R1575L	ENST00000389232.4	37	c.4724	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443296	0.83993	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97480	-4.39;-4.4	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000001	D	0.98573	0.9523	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	D	0.99556	1.0967	10	0.87932	D	0	.	18.7881	0.91963	0.0:0.0:1.0:0.0	.	1575;1575	Q15413-2;Q15413	.;RYR3_HUMAN	L	1575	ENSP00000373884:R1575L;ENSP00000399610:R1575L	ENSP00000354735:R1575L	R	+	2	0	RYR3	31741747	1.000000	0.71417	0.950000	0.38849	0.716000	0.41182	9.601000	0.98297	2.673000	0.90976	0.650000	0.86243	CGC	RYR3	-	NULL	ENSG00000198838		0.592	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0	32	0	G			33954455	1			no_errors	ENST00000389232	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	33954455	G	T	33954455	3	4	87	1	0	0	0	0	1	0	0	0	13815	1087	38	2	4862	2	RYR3	15	33954455	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2177911	33954455	68576937	1403	24527											
RYR3	6263	genome.wustl.edu	37	chr15	34077887	34077887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgccagacacggtagAagacatgtgtcctgacatcc	11	7	13	10	1	0	4	0	1	0	3	2	5	2	5	3	3	1	1	3	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:34077887A>G	ENST00000389232.4	+	66	9363	c.9293A>G	c.(9292-9294)gAa>gGa	p.E3098G	RYR3_ENST00000415757.3_Missense_Mutation_p.E3098G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3098					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACACGGTAGAAGACATGTGT	0.537																																																	0													44	51	49					15																	34077887		2125	4247	6372	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9293A>G	15.37:g.34077887A>G	ENSP00000373884:p.Glu3098Gly		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E3098G	ENST00000389232.4	37	c.9293	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828888	0.71258	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.69306	-0.39;-0.39	5.25	5.25	0.73442	.	0.060124	0.64402	D	0.000003	T	0.79851	0.4517	M	0.68593	2.085	0.58432	D	0.999999	D;B	0.89917	1.0;0.103	D;B	0.80764	0.994;0.084	T	0.80286	-0.1446	10	0.48119	T	0.1	.	15.6116	0.76727	1.0:0.0:0.0:0.0	.	3098;3098	Q15413-2;Q15413	.;RYR3_HUMAN	G	3098	ENSP00000373884:E3098G;ENSP00000399610:E3098G	ENSP00000354735:E3098G	E	+	2	0	RYR3	31865179	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.087000	0.94110	2.333000	0.79357	0.533000	0.62120	GAA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0	55	0	A			34077887	1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	G	G	34077887	A	G	34077887	3	3	87	1	0	0	0	0	1	0	0	0	13815	246	9	4	9555	4	RYR3	15	34077887	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	123432	34077887	68453505	1404	24528											
C15orf41	84529	genome.wustl.edu	37	chr15	36984338	36984338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgcagtgcattgtgaaCgactgctgttacggaccact	8	12	11	10	2	1	1	0	1	1	0	1	3	1	2	1	1	5	4	1	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:36984338C>T	ENST00000566621.1	+	7	688	c.438C>T	c.(436-438)aaC>aaT	p.N146N	C15orf41_ENST00000567389.1_Silent_p.N48N|C15orf41_ENST00000562877.1_Silent_p.N48N|C15orf41_ENST00000569302.1_Silent_p.N146N|C15orf41_ENST00000338183.4_Silent_p.N48N|C15orf41_ENST00000437989.2_Silent_p.N146N	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	146										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GCATTGTGAACGACTGCTGTT	0.428																																																	0													95	87	90					15																	36984338		1861	4091	5952	SO:0001819	synonymous_variant	0			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.438C>T	15.37:g.36984338C>T			B2RD87	Silent	SNP	NULL	p.N146	ENST00000566621.1	37	c.438	CCDS45215.1	15																																																																																			C15orf41	-	NULL	ENSG00000186073		0.428	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf41	HGNC	protein_coding	OTTHUMT00000419741.1	-	0	49	0	C	NM_032499		36984338	1	tier1	-	no_errors	ENST00000437989	ensembl	human	known	74_37	silent	14.29	54	9	SNP	0.520	T	T	36984338	C	T	36984338	2	4	87	1	0	0	0	0	0	0	0	1	1800	535	19	1		1	C15orf41	15	36984338	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2906451	36984338	65547054	1405	24529											
RASGRP1	10125	genome.wustl.edu	37	chr15	38786678	38786678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacttgacaaaagcccGctttctgaccaagactgggc	10	8	8	15	1	1	3	0	2	1	1	2	3	2	3	3	1	1	1	3	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:38786678G>A	ENST00000310803.5	-	16	2341	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000450598.2_Missense_Mutation_p.R687W|RASGRP1_ENST00000561180.1_Missense_Mutation_p.R773W|RASGRP1_ENST00000539159.1_Missense_Mutation_p.R674W|RASGRP1_ENST00000558164.1_Intron	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	722	PT region; mediates the BCR-dependent translocation to plasma membrane. {ECO:0000250}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		ACAAAAGCCCGCTTTCTGACC	0.512																																																	0													59	58	58					15																	38786678		1848	4087	5935	SO:0001583	missense	0			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"EF-hand domain containing"	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.2164C>T	15.37:g.38786678G>A	ENSP00000310244:p.Arg722Trp		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.R722W	ENST00000310803.5	37	c.2164	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974311	0.74246	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000539159	T;D;T	0.81908	-1.29;-1.55;-1.37	5.23	3.27	0.37495	.	0.440664	0.24859	N	0.035038	T	0.81202	0.4773	N	0.24115	0.695	0.31308	N	0.687476	D;D	0.69078	0.996;0.997	P;P	0.55923	0.617;0.787	T	0.82341	-0.0505	10	0.87932	D	0	-20.2661	13.0403	0.58895	0.0:0.0:0.3982:0.6017	.	722;687	O95267;O95267-2	GRP1_HUMAN;.	W	722;687;674	ENSP00000310244:R722W;ENSP00000388540:R687W;ENSP00000444762:R674W	ENSP00000310244:R722W	R	-	1	2	RASGRP1	36573970	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.447000	0.44917	0.718000	0.32166	0.655000	0.94253	CGG	RASGRP1	-	NULL	ENSG00000172575		0.512	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	-	0	54	0	G	NM_005739		38786678	-1	tier1	-	no_errors	ENST00000310803	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	A	A	38786678	G	A	38786678	3	1	87	1	0	0	0	0	1	0	0	0	13119	1086	38	1	237	1	RASGRP1	15	38786678	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1802340	38786678	63744714	1406	24530											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40241361	40241361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgtgcagtcatttctcagCgagcataacaagccccctcc	10	8	7	16	2	2	0	2	0	1	0	4	1	3	0	3	0	5	2	3	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40241361C>T	ENST00000263791.5	+	4	448	c.405C>T	c.(403-405)agC>agT	p.S135S	EIF2AK4_ENST00000559624.1_Silent_p.S135S|snoU13_ENST00000459610.1_RNA|EIF2AK4_ENST00000382727.2_Silent_p.S135S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	135	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CATTTCTCAGCGAGCATAACA	0.473																																																	0													206	186	192					15																	40241361		1931	4131	6062	SO:0001819	synonymous_variant	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.405C>T	15.37:g.40241361C>T			C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.S135	ENST00000263791.5	37	c.405	CCDS42016.1	15																																																																																			EIF2AK4	-	superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain	ENSG00000128829		0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0	82	0	C			40241361	1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	silent	7.46	62	5	SNP	0.329	T	T	40241361	C	T	40241361	2	4	87	1	0	0	0	0	0	0	0	1	5013	767	27	1		1	EIF2AK4	15	40241361	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1454683	40241361	62290031	1407	24531											
EIF2AK4	440275	genome.wustl.edu	37	chr15	40318214	40318214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcagacagagaagCgtgtgctggagactgaactt	14	6	15	6	1	0	4	0	1	0	3	0	7	0	5	0	3	3	2	0	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40318214C>T	ENST00000263791.5	+	33	4469	c.4426C>T	c.(4426-4428)Cgt>Tgt	p.R1476C	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1448C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1476	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACAGAGAAGCGTGTGCTGGA	0.443																																																	0													101	97	98					15																	40318214		1982	4178	6160	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4426C>T	15.37:g.40318214C>T	ENSP00000263791:p.Arg1476Cys		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.R1476C	ENST00000263791.5	37	c.4426	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227629	0.79576	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.48522	0.81;0.81	5.71	5.71	0.89125	Serine/threonine-protein kinase GCN2, anticodon binding domain (1);	0.061590	0.64402	D	0.000004	T	0.51024	0.1650	L	0.27053	0.805	0.58432	D	0.999994	D;D	0.71674	0.997;0.998	P;P	0.59643	0.781;0.861	T	0.52313	-0.8592	10	0.62326	D	0.03	-6.1882	12.8738	0.57980	0.2706:0.7294:0.0:0.0	.	1448;1476	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	C	1476;1448	ENSP00000263791:R1476C;ENSP00000372174:R1448C	ENSP00000263791:R1476C	R	+	1	0	EIF2AK4	38105506	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.892000	0.28322	2.681000	0.91329	0.655000	0.94253	CGT	EIF2AK4	-	superfamily_Anticodon-bd,pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.443	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0	47	0	C			40318214	1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	missense	46.81	25	22	SNP	1.000	T	T	40318214	C	T	40318214	3	4	87	1	0	0	0	0	1	0	0	0	5013	768	27	1	4556	1	EIF2AK4	15	40318214	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	76853	40318214	62213178	1408	24532											
PLCB2	5330	genome.wustl.edu	37	chr15	40596215	40596215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccttactttgatacGtccagtataagtagtagccc	10	14	6	11	1	1	1	1	1	1	0	3	1	2	1	3	0	3	3	3	0	6	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40596215G>A	ENST00000260402.3	-	2	398	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.T50M|PLCB2_ENST00000543785.2_Missense_Mutation_p.T50M|PLCB2_ENST00000456256.2_Missense_Mutation_p.T50M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	50					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTTTGATACGTCCAGTATAA	0.527																																																	0													82	86	85					15																	40596215		2020	4166	6186	SO:0001583	missense	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.149C>T	15.37:g.40596215G>A	ENSP00000260402:p.Thr50Met		A8K6J2|B9EGH5	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.T50M	ENST00000260402.3	37	c.149	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841379	0.51057	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.46819	0.86;0.86;0.86	4.43	4.43	0.53597	.	0.297680	0.19776	U	0.106330	T	0.43875	0.1267	L	0.33792	1.035	0.38498	D	0.948141	D;D;D;P	0.59767	0.961;0.977;0.986;0.941	P;P;B;P	0.46362	0.464;0.474;0.443;0.514	T	0.51450	-0.8704	10	0.49607	T	0.09	.	15.9676	0.79985	0.0:0.0:1.0:0.0	.	50;50;50;50	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	M	50	ENSP00000260402:T50M;ENSP00000411991:T50M;ENSP00000444652:T50M	ENSP00000260402:T50M	T	-	2	0	PLCB2	38383507	1.000000	0.71417	0.998000	0.56505	0.648000	0.38561	4.918000	0.63376	2.164000	0.68074	0.655000	0.94253	ACG	PLCB2	-	pirsf_PLC-beta	ENSG00000137841		0.527	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	-	0	36	0	G			40596215	-1	tier1	-	no_errors	ENST00000260402	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.993	A	A	40596215	G	A	40596215	3	1	87	1	0	0	0	0	1	0	0	0	12067	1145	40	1	3532	1	PLCB2	15	40596215	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	278001	40596215	61935177	1409	24533											
CASC5	57082	genome.wustl.edu	37	chr15	40913213	40913213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaaggaaccgaacagtGcctcttctacacatcaaatg	14	9	6	12	1	3	0	1	0	2	0	4	2	4	1	3	1	4	0	3	1	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:40913213G>A	ENST00000346991.5	+	11	1219	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	CASC5_ENST00000399668.2_Missense_Mutation_p.A251T|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	277	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACCGAACAGTGCCTCTTCTAC	0.333																																																	0													48	46	46					15																	40913213		1839	4085	5924	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.829G>A	15.37:g.40913213G>A	ENSP00000335463:p.Ala277Thr		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.A277T	ENST00000346991.5	37	c.829	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032158	0.19590	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.06068	3.35;3.35	6.04	1.03	0.20045	.	0.903310	0.09568	N	0.784635	T	0.06416	0.0165	L	0.49350	1.555	0.09310	N	1	B;B;B	0.27351	0.084;0.084;0.176	B;B;B	0.23419	0.022;0.022;0.046	T	0.42378	-0.9455	10	0.27785	T	0.31	.	5.7547	0.18166	0.2661:0.0:0.6061:0.1278	.	251;277;251	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	T	277;251;251	ENSP00000335463:A277T;ENSP00000382576:A251T	ENSP00000260369:A251T	A	+	1	0	CASC5	38700505	0.000000	0.05858	0.006000	0.13384	0.004000	0.04260	0.007000	0.13174	-0.042000	0.13535	-0.311000	0.09066	GCC	CASC5	-	NULL	ENSG00000137812		0.333	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0	57	0	G	NM_144508		40913213	1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.003	A	A	40913213	G	A	40913213	3	1	87	1	0	0	0	0	1	0	0	0	2670	1319	46	3	867	3	CASC5	15	40913213	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	316998	40913213	61618179	1410	24534											
OIP5	11339	genome.wustl.edu	37	chr15	41624711	41624711	+	Frame_Shift_Del	DEL	G	G	-																															gccaccacaaaagtccccccGgggcggcgttgcacaacgtg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:41624711delG	ENST00000220514.3	-	1	108	c.49delC	c.(49-51)cggfs	p.R17fs	NUSAP1_ENST00000560177.1_5'Flank|NUSAP1_ENST00000450318.1_5'Flank|NUSAP1_ENST00000414849.2_5'Flank|NUSAP1_ENST00000560747.1_5'Flank|NUSAP1_ENST00000260359.6_5'Flank|NUSAP1_ENST00000559596.1_5'Flank|NUSAP1_ENST00000450592.2_5'Flank	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	17					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAGTCCCCCCGGGGCGGCGTT	0.647																																																	0													69	82	77					15																	41624711		2203	4300	6503	SO:0001589	frameshift_variant	0			AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"MIS18 kinetochore protein homolog B (S. pombe)", "cancer/testis antigen 86"	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.49delC	15.37:g.41624711delG	ENSP00000220514:p.Arg17fs		Q96BX7	Frame_Shift_Del	DEL	NULL	p.R17fs	ENST00000220514.3	37	c.49	CCDS10074.1	15																																																																																			OIP5	-	NULL	ENSG00000104147		0.647	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIP5	HGNC	protein_coding	OTTHUMT00000252576.2		0	59	0	G	NM_007280		41624711	-1	tier1		no_errors	ENST00000220514	ensembl	human	known	74_37	frame_shift_del	26.00	37	13	DEL	0.000	-	-	41624711	G	-	41624711	7	5	87	1	0	1	0	1	0	0	0	0	10887	1115	39	0	660	0	OIP5	15	41624711	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	711498	41624711	60906681	1411	24535											
SPTBN5	51332	genome.wustl.edu	37	chr15	42147436	42147436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaccttgacaccctccaGgtcctgcccgtagtcctggg	6	9	9	17	1	1	1	1	1	0	0	4	1	4	1	6	2	1	1	6	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:42147436G>T	ENST00000320955.6	-	55	9636	c.9409C>A	c.(9409-9411)Ctg>Atg	p.L3137M		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3137					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACACCCTCCAGGTCCTGCCCG	0.647																																																	0													24	27	26					15																	42147436		2045	4170	6215	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9409C>A	15.37:g.42147436G>T	ENSP00000317790:p.Leu3137Met			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L3137M	ENST00000320955.6	37	c.9409		15	.	.	.	.	.	.	.	.	.	.	.	19.12	3.765588	0.69878	.	.	ENSG00000137877	ENST00000320955	T	0.59502	0.26	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000073	T	0.73845	0.3639	M	0.84326	2.69	0.27039	N	0.964065	D	0.89917	1.0	D	0.97110	1.0	T	0.69636	-0.5092	10	0.72032	D	0.01	.	6.855	0.24036	0.2149:0.0:0.7851:0.0	.	3137	Q9NRC6	SPTN5_HUMAN	M	3137	ENSP00000317790:L3137M	ENSP00000317790:L3137M	L	-	1	2	SPTBN5	39934728	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.722000	0.38042	2.447000	0.82792	0.655000	0.94253	CTG	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	52	0	G	NM_016642		42147436	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	27.69	47	18	SNP	1.000	T	T	42147436	G	T	42147436	3	4	87	1	0	0	0	0	1	0	0	0	15169	991	35	3	1671	3	SPTBN5	15	42147436	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	522725	42147436	60383956	1412	24536											
PLA2G4F	255189	genome.wustl.edu	37	chr15	42437801	42437801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacactgcctctgtaccaCtccaggaagctgaggcccga	9	8	9	15	1	2	1	1	1	1	0	3	3	3	2	4	2	3	2	4	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:42437801C>T	ENST00000382396.4	-	16	1838	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E	PLA2G4F_ENST00000397272.3_Silent_p.E586E			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	584	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCTGTACCACTCCAGGAAGC	0.602																																																	0													104	111	109					15																	42437801		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1752G>A	15.37:g.42437801C>T			Q6ZMC8	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.E586	ENST00000382396.4	37	c.1758	CCDS32204.1	15																																																																																			PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168907		0.602	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	-	0	96	0	C	NM_213600		42437801	-1	tier1	-	no_errors	ENST00000397272	ensembl	human	known	74_37	silent	21.74	54	15	SNP	0.106	T	T	42437801	C	T	42437801	2	4	87	1	0	0	0	0	0	0	0	1	12045	564	20	3		3	PLA2G4F	15	42437801	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	290365	42437801	60093591	1413	24537											
UBR1	197131	genome.wustl.edu	37	chr15	43252855	43252855	+	Frame_Shift_Del	DEL	T	T	-																															aaaccaacctgaccacggtgTttttttgcttcaaacagttt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:43252855delT	ENST00000290650.4	-	43	4823	c.4745delA	c.(4744-4746)aacfs	p.N1582fs	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1582					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GACCACGGTGTTTTTTTGCTT	0.403																																																	0													136	109	118					15																	43252855		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4745delA	15.37:g.43252855delT	ENSP00000290650:p.Asn1582fs		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Frame_Shift_Del	DEL	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.N1582fs	ENST00000290650.4	37	c.4745	CCDS10091.1	15																																																																																			UBR1	-	NULL	ENSG00000159459		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0	47	0	T	NM_174916		43252855	-1	tier1		no_errors	ENST00000290650	ensembl	human	known	74_37	frame_shift_del	38.24	21	13	DEL	0.838	-	-	43252855	T	-	43252855	7	5	87	1	0	1	0	1	0	0	0	0	16950	1725	60	0	524	0	UBR1	15	43252855	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	815054	43252855	59278537	1414	24538											
TP53BP1	7158	genome.wustl.edu	37	chr15	43748969	43748969	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctgctaccgtttcttCtctgcccttgcaaccagtgg	5	15	7	14	1	4	0	0	0	4	0	5	0	4	0	3	1	5	3	3	1	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:43748969C>A	ENST00000263801.3	-	12	2074	c.1822G>T	c.(1822-1824)Gaa>Taa	p.E608*	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E613*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E613*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E613*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	608					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACCGTTTCTTCTCTGCCCTTG	0.453								Other conserved DNA damage response genes																																									0													192	163	173					15																	43748969		2201	4298	6499	SO:0001587	stop_gained	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1822G>T	15.37:g.43748969C>A	ENSP00000263801:p.Glu608*		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E613*	ENST00000263801.3	37	c.1837	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.735444	0.98459	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	4.8	4.8	0.61643	.	0.156786	0.42548	D	0.000690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-12.8477	10.8222	0.46612	0.0:0.9125:0.0:0.0875	.	.	.	.	X	608;613;613;613;613	.	ENSP00000263801:E608X	E	-	1	0	TP53BP1	41536261	0.999000	0.42202	1.000000	0.80357	0.901000	0.52897	1.797000	0.38804	2.370000	0.80446	0.563000	0.77884	GAA	TP53BP1	-	NULL	ENSG00000067369		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	-	0	40	0	C			43748969	-1	tier1	-	no_errors	ENST00000382044	ensembl	human	known	74_37	nonsense	22.03	46	13	SNP	1.000	A	A	43748969	C	A	43748969	4	1	87	1	0	0	0	0	0	1	0	0	16431	922	32	3	4164	3	TP53BP1	15	43748969	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	496114	43748969	58782423	1415	24539											
CATSPER2	117155	genome.wustl.edu	37	chr15	43931160	43931160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtgtactctgagaagaCgtagacaccagtcacagcaa	14	6	11	10	2	2	3	1	1	1	3	2	4	2	3	1	1	2	3	1	1	4	2	rs368268477		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:43931160C>T	ENST00000321596.5	-	7	983	c.784G>A	c.(784-786)Gtc>Atc	p.V262I	CATSPER2_ENST00000354127.4_Missense_Mutation_p.V262I|CATSPER2_ENST00000381761.1_Missense_Mutation_p.V268I|RNU6-610P_ENST00000384264.1_RNA|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Missense_Mutation_p.V262I|CATSPER2_ENST00000396879.1_Missense_Mutation_p.V262I			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	262					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCTGAGAAGACGTAGACACCA	0.502																																																	0								C	ILE/VAL,ILE/VAL	0,4398		0,0,2199	118	96	104		784,784	1.4	1	15		104	1,8591		0,1,4295	no	missense,missense	CATSPER2	NM_054020.2,NM_172095.1	29,29	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	262/529,262/531	43931160	1,12989	2199	4296	6495	SO:0001583	missense	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"Voltage-gated ion channels / Cation channels, sperm associated"	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.784G>A	15.37:g.43931160C>T	ENSP00000321463:p.Val262Ile		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V262I	ENST00000321596.5	37	c.784	CCDS10099.1	15	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421089	0.25639	0.0	1.16E-4	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9	3.9	1.4	0.22301	Ion transport (1);	0.178583	0.35096	N	0.003459	D	0.92622	0.7656	N	0.12182	0.205	0.19300	N	0.999973	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	D	0.84597	0.0670	10	0.22706	T	0.39	.	7.989	0.30229	0.579:0.421:0.0:0.0	.	268;262	F8W9H2;Q96P56	.;CTSR2_HUMAN	I	262;262;268;262;262;262	ENSP00000380088:V262I;ENSP00000371180:V268I;ENSP00000321463:V262I;ENSP00000339137:V262I;ENSP00000347613:V262I	ENSP00000299989:V262I	V	-	1	0	CATSPER2	41718452	1.000000	0.71417	0.996000	0.52242	0.621000	0.37620	1.520000	0.35899	0.164000	0.19529	-0.569000	0.04157	GTC	CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.502	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	-	0	59	0	C	NM_054020		43931160	-1	tier1	-	no_errors	ENST00000321596	ensembl	human	known	74_37	missense	14.52	53	9	SNP	1.000	T	T	43931160	C	T	43931160	3	4	87	1	0	0	0	0	1	0	0	0	2695	536	19	1	836	1	CATSPER2	15	43931160	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	182191	43931160	58600232	1416	24540											
EIF3J	8669	genome.wustl.edu	37	chr15	44829562	44829562	+	Frame_Shift_Del	DEL	G	G	-																															gaagacccagtgcggaaggtGgggggcggcggcactgccgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:44829562delG	ENST00000535391.1	+	2	96	c.84delG	c.(82-84)gtgfs	p.V28fs	EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000261868.5_Frame_Shift_Del_p.V28fs|EIF3J_ENST00000424492.3_Frame_Shift_Del_p.V28fs					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TGCGGAAGGTGGGGGGCGGCG	0.731																																																	0													5	7	7					15																	44829562		2088	4097	6185	SO:0001589	frameshift_variant	0			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.84delG	15.37:g.44829562delG	ENSP00000440221:p.Val28fs			Frame_Shift_Del	DEL	pfam_eIF3j	p.G30fs	ENST00000535391.1	37	c.84		15																																																																																			EIF3J	-	pfam_eIF3j	ENSG00000104131		0.731	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	EIF3J	HGNC	protein_coding	OTTHUMT00000396804.1		0	27	0	G	NM_003758		44829562	1	tier1		no_errors	ENST00000261868	ensembl	human	known	74_37	frame_shift_del	10.81	33	4	DEL	0.997	-	-	44829562	G	-	44829562	7	5	87	1	0	1	0	1	0	0	0	0	5036	1335	47	0	90	0	EIF3J	15	44829562	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	898402	44829562	57701830	1417	24541											
SPG11	80208	genome.wustl.edu	37	chr15	44907749	44907750	+	Frame_Shift_Ins	INS	-	-	A																															agtcttccagttcagatgccINSaaaaaaaccccattcctatg																								rs312262751		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:44907749_44907750insA	ENST00000261866.7	-	16	2865_2866	c.2849_2850insT	c.(2848-2850)ttgfs	p.L950fs	SPG11_ENST00000535302.2_Frame_Shift_Ins_p.L950fs|SPG11_ENST00000427534.2_Frame_Shift_Ins_p.L950fs|SPG11_ENST00000558319.1_Frame_Shift_Ins_p.L950fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	950					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GTTCAGATGCCAAAAAAACCCC	0.406																																																	0																																										SO:0001589	frameshift_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2850dupT	15.37:g.44907756_44907756dupA	ENSP00000261866:p.Leu950fs		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Ins	INS	NULL	p.L950fs	ENST00000261866.7	37	c.2850_2849	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.406	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1		0	20	0	-			44907750	-1	tier1		no_errors	ENST00000261866	ensembl	human	known	74_37	frame_shift_ins	10.71	25	3	INS	0.098:0.982	A	A	44907750	-	A	44907749	7	5	87	1	0	1	1	0	0	0	0	0	15088	593	21	0	4581	0	SPG11	15	44907749	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	78187	44907749	57623643	1418	24542											
GATM	2628	genome.wustl.edu	37	chr15	45668948	45668948	+	Frame_Shift_Del	DEL	G	G	-																															gtcagctgcacaggagttccGggaggaagccgtagctgcct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:45668948delG	ENST00000396659.3	-	2	478	c.139delC	c.(139-141)cggfs	p.R47fs	GATM_ENST00000558336.1_Frame_Shift_Del_p.R47fs|GATM_ENST00000458245.5_5'Flank	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	47					cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|embryo development (GO:0009790)|response to mercury ion (GO:0046689)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)	glycine amidinotransferase activity (GO:0015068)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Glycine(DB00145)|L-Ornithine(DB00129)	CAGGAGTTCCGGGAGGAAGCC	0.517																																																	0													70	65	67					15																	45668948		2198	4298	6496	SO:0001589	frameshift_variant	0			S68805	CCDS10122.1	15q15.1	2007-12-06			ENSG00000171766	ENSG00000171766	2.1.4.1		4175	protein-coding gene	gene with protein product		602360				8313955	Standard	NM_001482		Approved	AGAT	uc001zvc.3	P50440	OTTHUMG00000131427	ENST00000396659.3:c.139delC	15.37:g.45668948delG	ENSP00000379895:p.Arg47fs		B4DH99|B4DPI3|Q53EQ4	Frame_Shift_Del	DEL	NULL	p.R47fs	ENST00000396659.3	37	c.139	CCDS10122.1	15																																																																																			GATM	-	NULL	ENSG00000171766		0.517	GATM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATM	HGNC	protein_coding	OTTHUMT00000254220.2		0	43	0	G	NM_001482		45668948	-1	tier1		no_errors	ENST00000396659	ensembl	human	known	74_37	frame_shift_del	18.92	30	7	DEL	0.616	-	-	45668948	G	-	45668948	7	5	87	1	0	1	0	1	0	0	0	0	6288	1115	39	0	1164	0	GATM	15	45668948	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	761199	45668948	56862444	1419	24543											
FBN1	2200	genome.wustl.edu	37	chr15	48784744	48784744	+	Frame_Shift_Del	DEL	T	T	-																															tagtgttaacacacaggccaTttttacacactcctgggaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:48784744delT	ENST00000316623.5	-	24	3223	c.2768delA	c.(2767-2769)aatfs	p.N923fs		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	923	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACAGGCCATTTTTACACAC	0.358																																																	0													80	77	78					15																	48784744		2198	4296	6494	SO:0001589	frameshift_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2768delA	15.37:g.48784744delT	ENSP00000325527:p.Asn923fs		B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Del	DEL	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.N923fs	ENST00000316623.5	37	c.2768	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000166147		0.358	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1		0	88	0	T			48784744	-1	tier1		no_errors	ENST00000316623	ensembl	human	known	74_37	frame_shift_del	21.54	51	14	DEL	1.000	-	-	48784744	T	-	48784744	7	5	87	1	0	1	0	1	0	0	0	0	5724	1493	52	0	6019	0	FBN1	15	48784744	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	3115796	48784744	53746648	1420	24544											
CEP152	22995	genome.wustl.edu	37	chr15	49076223	49076223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctagacttcttgtcAacttattaatgatctcagtc	9	17	4	11	0	5	2	2	1	4	1	8	2	5	2	1	0	1	0	1	0	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:49076223A>G	ENST00000380950.2	-	10	1455	c.1268T>C	c.(1267-1269)tTg>tCg	p.L423S	RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Missense_Mutation_p.L330S|CEP152_ENST00000399334.3_Missense_Mutation_p.L423S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	423					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACTTCTTGTCAACTTATTAAT	0.428																																																	0													120	117	118					15																	49076223		1891	4111	6002	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.1268T>C	15.37:g.49076223A>G	ENSP00000370337:p.Leu423Ser		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.L423S	ENST00000380950.2	37	c.1268	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131731	0.56828	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334;ENST00000541880	D;D;D	0.85411	-1.98;-1.98;-1.98	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	D	0.92074	0.7488	M	0.79475	2.455	0.43489	D	0.995724	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.93102	0.6509	10	0.87932	D	0	-6.4731	15.0105	0.71547	1.0:0.0:0.0:0.0	.	330;423;423	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	423;330;423;423	ENSP00000370337:L423S;ENSP00000321000:L330S;ENSP00000382271:L423S	ENSP00000321000:L330S	L	-	2	0	CEP152	46863515	1.000000	0.71417	0.453000	0.27007	0.233000	0.25261	7.204000	0.77872	2.037000	0.60232	0.460000	0.39030	TTG	CEP152	-	NULL	ENSG00000103995		0.428	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	-	0	55	0	A	NM_014985		49076223	-1	tier1	-	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.894	G	G	49076223	A	G	49076223	3	3	87	1	0	0	0	0	1	0	0	0	3255	131	5	4	3764	4	CEP152	15	49076223	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	291479	49076223	53455169	1421	24545											
DTWD1	56986	genome.wustl.edu	37	chr15	49935658	49935658	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactaccatactgatatattAaaagagaaatacagagggca	19	8	8	6	0	0	3	0	1	0	2	0	5	0	3	1	1	3	1	1	1	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:49935658A>G	ENST00000251250.6	+	6	1005	c.798A>G	c.(796-798)ttA>ttG	p.L266L	DTWD1_ENST00000415425.1_Silent_p.L179L|DTWD1_ENST00000403028.3_Silent_p.L266L|DTWD1_ENST00000558653.1_Silent_p.L266L	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	266										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		CTGATATATTAAAAGAGAAAT	0.338																																																	0													62	68	66					15																	49935658		2195	4290	6485	SO:0001819	synonymous_variant	0			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.798A>G	15.37:g.49935658A>G			Q567Q3|Q8WVG9|Q9NRU6	Silent	SNP	pfam_DTW	p.L266	ENST00000251250.6	37	c.798	CCDS10132.1	15																																																																																			DTWD1	-	pfam_DTW	ENSG00000104047		0.338	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2		0	50	0	A	NM_020234		49935658	1			no_errors	ENST00000251250	ensembl	human	known	74_37	silent	6.98	40	3	SNP	0.988	G	G	49935658	A	G	49935658	2	3	87	1	0	0	0	0	0	0	0	1	4805	359	13	4		4	DTWD1	15	49935658	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	859435	49935658	52595734	1422	24546											
HDC	3067	genome.wustl.edu	37	chr15	50540459	50540459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtctgacatgtgcttGaagattcttcaccccgaagg	10	12	9	10	1	3	3	1	2	2	1	3	4	3	3	2	1	2	1	2	1	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:50540459G>T	ENST00000267845.3	-	10	1525	c.1123C>A	c.(1123-1125)Caa>Aaa	p.Q375K	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.Q375E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ACATGTGCTTGAAGATTCTTC	0.507																																					GBM(95;1627 1936 6910 9570)												2	Substitution - Missense(2)	lung(2)											86	76	80					15																	50540459		2196	4295	6491	SO:0001583	missense	0				CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1123C>A	15.37:g.50540459G>T	ENSP00000267845:p.Gln375Lys			Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.Q375K	ENST00000267845.3	37	c.1123	CCDS10134.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.074431	0.94000	.	.	ENSG00000140287	ENST00000267845	T	0.38240	1.15	5.35	5.35	0.76521	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.053230	0.85682	N	0.000000	T	0.60715	0.2290	M	0.70842	2.15	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.64292	-0.6442	10	0.87932	D	0	-13.7062	19.1263	0.93386	0.0:0.0:1.0:0.0	.	375	P19113	DCHS_HUMAN	K	375	ENSP00000267845:Q375K	ENSP00000267845:Q375K	Q	-	1	0	HDC	48327751	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.509000	0.98002	2.510000	0.84645	0.558000	0.71614	CAA	HDC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	ENSG00000140287		0.507	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDC	HGNC	protein_coding	OTTHUMT00000254540.1		0	21	0	G			50540459	-1			no_errors	ENST00000267845	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	50540459	G	T	50540459	3	4	87	1	0	0	0	0	1	0	0	0	7042	1299	45	3	877	3	HDC	15	50540459	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	604801	50540459	51990933	1423	24547											
MYO5C	55930	genome.wustl.edu	37	chr15	52504030	52504030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacacatgaacaggataTgagccggcagcccggggatc	12	4	13	12	2	0	2	0	2	0	0	1	4	0	4	2	4	3	2	2	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:52504030T>C	ENST00000261839.7	-	35	4354	c.4193A>G	c.(4192-4194)cAt>cGt	p.H1398R		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1398						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GAACAGGATATGAGCCGGCAG	0.532																																																	0													103	110	107					15																	52504030		2156	4265	6421	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4193A>G	15.37:g.52504030T>C	ENSP00000261839:p.His1398Arg		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H1398R	ENST00000261839.7	37	c.4193	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	T	27.6	4.845008	0.91197	.	.	ENSG00000128833	ENST00000261839	T	0.16897	2.31	5.79	5.79	0.91817	.	0.059867	0.64402	D	0.000003	T	0.25680	0.0625	L	0.43152	1.355	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	T	0.00514	-1.1695	10	0.49607	T	0.09	.	16.1311	0.81442	0.0:0.0:0.0:1.0	.	1398	Q9NQX4	MYO5C_HUMAN	R	1398	ENSP00000261839:H1398R	ENSP00000261839:H1398R	H	-	2	0	MYO5C	50291322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.069000	0.64370	2.208000	0.71279	0.460000	0.39030	CAT	MYO5C	-	NULL	ENSG00000128833		0.532	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1		0	60	0	T	NM_018728		52504030	-1			no_errors	ENST00000261839	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C	C	52504030	T	C	52504030	3	2	87	1	0	0	0	0	1	0	0	0	10118	1464	51	4	1063	4	MYO5C	15	52504030	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1963571	52504030	50027362	1424	24548											
ONECUT1	3175	genome.wustl.edu	37	chr15	53081028	53081028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggctcctgcagccactTccacatcctccggaaggtct	6	9	8	18	2	1	0	0	0	1	0	6	1	6	1	6	3	2	2	6	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:53081028T>C	ENST00000305901.5	-	1	1181	c.1054A>G	c.(1054-1056)Aag>Gag	p.K352E	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	352					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGCAGCCACTTCCACATCCTC	0.657																																																	0													44	46	45					15																	53081028		2194	4293	6487	SO:0001583	missense	0			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"Homeoboxes / CUT class"	8138	protein-coding gene	gene with protein product		604164	"one cut domain, family member 1"	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1054A>G	15.37:g.53081028T>C	ENSP00000302630:p.Lys352Glu		B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.K352E	ENST00000305901.5	37	c.1054	CCDS10150.1	15	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239267	0.58995	.	.	ENSG00000169856	ENST00000305901	T	0.49139	0.79	4.32	4.32	0.51571	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.055979	0.64402	D	0.000002	T	0.51770	0.1694	L	0.38531	1.155	0.80722	D	1	P	0.48162	0.906	P	0.55785	0.784	T	0.55642	-0.8109	10	0.72032	D	0.01	-18.1963	12.4865	0.55877	0.0:0.0:0.0:1.0	.	352	Q9UBC0	HNF6_HUMAN	E	352	ENSP00000302630:K352E	ENSP00000302630:K352E	K	-	1	0	ONECUT1	50868320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.789000	0.85783	1.806000	0.52798	0.421000	0.28195	AAG	ONECUT1	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000169856		0.657	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	HGNC	protein_coding	OTTHUMT00000254849.2	-	0	72	0	T			53081028	-1	tier1	-	no_errors	ENST00000305901	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	C	C	53081028	T	C	53081028	3	2	87	1	0	0	0	0	1	0	0	0	10907	1792	62	4	351	4	ONECUT1	15	53081028	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	576998	53081028	49450364	1425	24549											
NEDD4	4734	genome.wustl.edu	37	chr15	56122187	56122187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcataaggtggcaagtccaGgcgattaaaactgaaagaac	16	8	10	7	1	1	2	1	1	0	1	2	3	2	2	1	3	2	1	1	3	6	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:56122187G>T	ENST00000508342.1	-	25	4167	c.3868C>A	c.(3868-3870)Ctg>Atg	p.L1290M	NEDD4_ENST00000338963.2_Missense_Mutation_p.L1218M|NEDD4_ENST00000435532.3_Missense_Mutation_p.L871M|NEDD4_ENST00000506154.1_Missense_Mutation_p.L1274M	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1290	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGCAAGTCCAGGCGATTAAAA	0.398																																																	0													70	63	66					15																	56122187		2193	4292	6485	SO:0001583	missense	0			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3868C>A	15.37:g.56122187G>T	ENSP00000424827:p.Leu1290Met		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.L1290M	ENST00000508342.1	37	c.3868		15	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194981	0.58017	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	6.08	-2.95	0.05564	HECT (4);	0.000000	0.85682	D	0.000000	D	0.86297	0.5899	H	0.96518	3.835	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;0.986;0.994;0.993	D;D;D;P	0.91635	0.999;0.962;0.932;0.888	D	0.86159	0.1592	10	0.72032	D	0.01	.	12.4586	0.55718	0.5094:0.0:0.4906:0.0	.	1274;871;1290;1218	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	M	1290;871;1218;1274	ENSP00000424827:L1290M;ENSP00000410613:L871M;ENSP00000345530:L1218M;ENSP00000422705:L1274M	ENSP00000345530:L1218M	L	-	1	2	NEDD4	53909479	0.997000	0.39634	0.914000	0.36105	0.926000	0.56050	1.223000	0.32527	-0.841000	0.04200	-0.469000	0.05056	CTG	NEDD4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000069869		0.398	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	-	0	89	0	G	NM_198400		56122187	-1	tier1	-	no_errors	ENST00000508342	ensembl	human	known	74_37	missense	10.71	75	9	SNP	0.743	T	T	56122187	G	T	56122187	3	4	87	1	0	0	0	0	1	0	0	0	10349	991	35	3	95	3	NEDD4	15	56122187	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3041159	56122187	46409205	1426	24550											
TCF12	6938	genome.wustl.edu	37	chr15	57565313	57565313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctaacaatgccagagaaCgcttacgcgtgcgggatatt	11	9	12	9	4	0	1	0	0	0	1	0	3	0	2	1	2	5	2	1	2	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:57565313C>T	ENST00000267811.5	+	18	2063	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	TCF12_ENST00000333725.5_Missense_Mutation_p.R611C|TCF12_ENST00000557843.1_Missense_Mutation_p.R587C|TCF12_ENST00000452095.2_Missense_Mutation_p.R607C|TCF12_ENST00000438423.2_Missense_Mutation_p.R611C|TCF12_ENST00000343827.3_Missense_Mutation_p.R417C|TCF12_ENST00000559703.1_Missense_Mutation_p.R244C|TCF12_ENST00000559710.1_Missense_Mutation_p.R221C|TCF12_ENST00000543579.1_Missense_Mutation_p.R441C|TCF12_ENST00000537840.1_Missense_Mutation_p.R351C	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	587	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TGCCAGAGAACGCTTACGCGT	0.423			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"		M	0													96	103	101					15																	57565313		2192	4292	6484	SO:0001583	missense	0			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"Basic helix-loop-helix proteins"	11623	protein-coding gene	gene with protein product	"helix-loop-helix transcription factor 4"	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1759C>T	15.37:g.57565313C>T	ENSP00000267811:p.Arg587Cys		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R611C	ENST00000267811.5	37	c.1831	CCDS10159.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619496	0.87460	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.99051	-5.37;-5.37;-5.37;-5.37;-5.37;-5.37;-5.37	4.72	4.72	0.59763	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	M	0.92833	3.35	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;0.999;0.999;0.992;0.999;0.998;0.996;0.996;0.994	D	0.98391	1.0563	10	0.87932	D	0	-26.8671	18.0262	0.89270	0.0:1.0:0.0:0.0	.	607;221;441;351;607;639;441;417;587;611	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	C	639;587;611;607;611;441;351;417;199	ENSP00000267811:R587C;ENSP00000388940:R611C;ENSP00000396881:R607C;ENSP00000331057:R611C;ENSP00000440017:R441C;ENSP00000444696:R351C;ENSP00000342459:R417C	ENSP00000267811:R587C	R	+	1	0	TCF12	55352605	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.816000	0.69222	2.329000	0.79093	0.655000	0.94253	CGC	TCF12	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000140262		0.423	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCF12	HGNC	protein_coding	OTTHUMT00000255069.3	-	0	52	0	C	NM_003205		57565313	1	tier1	-	no_errors	ENST00000438423	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T	T	57565313	C	T	57565313	3	4	87	1	0	0	0	0	1	0	0	0	15734	536	19	1	1974	1	TCF12	15	57565313	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1443126	57565313	44966079	1427	24551											
VPS13C	54832	genome.wustl.edu	37	chr15	62165519	62165519	+	Frame_Shift_Del	DEL	T	T	-																															tcgactcaactcttctcttcTtttttgctgatattccttgt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:62165519delT	ENST00000261517.5	-	78	10577	c.10504delA	c.(10504-10506)agafs	p.R3503fs	VPS13C_ENST00000395898.3_Frame_Shift_Del_p.R3460fs|VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.R3503fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.R3460fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCTCTTCTTTTTTGCTGA	0.458																																																	0													221	212	215					15																	62165519		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10504delA	15.37:g.62165519delT	ENSP00000261517:p.Arg3503fs			Frame_Shift_Del	DEL	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.R3502fs	ENST00000261517.5	37	c.10504	CCDS32257.1	15																																																																																			VPS13C	-	NULL	ENSG00000129003		0.458	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0	62	0	T	NM_017684		62165519	-1	tier1		no_errors	ENST00000261517	ensembl	human	known	74_37	frame_shift_del	9.21	69	7	DEL	1.000	-	-	62165519	T	-	62165519	7	5	87	1	0	1	0	1	0	0	0	0	17240	1617	56	0	817	0	VPS13C	15	62165519	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	4600206	62165519	40365873	1428	24552											
VPS13C	54832	genome.wustl.edu	37	chr15	62316019	62316019	+	Frame_Shift_Del	DEL	T	T	-																															ttaaaaggtttcttaaaatgTtttttgtgctttttacgttt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:62316019delT	ENST00000261517.5	-	7	547	c.474delA	c.(472-474)aaafs	p.K158fs	VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.K158fs|VPS13C_ENST00000249837.3_Intron	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTAAAATGTTTTTTGTGCT	0.333																																																	0													124	122	123					15																	62316019		2203	4299	6502	SO:0001589	frameshift_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.474delA	15.37:g.62316019delT	ENSP00000261517:p.Lys158fs			Frame_Shift_Del	DEL	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.K158fs	ENST00000261517.5	37	c.474	CCDS32257.1	15																																																																																			VPS13C	-	NULL	ENSG00000129003		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0	40	0	T	NM_017684		62316019	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	frame_shift_del	15.52	49	9	DEL	1.000	0	-	62316019	T	-	62316019	7	5	87	1	0	1	0	1	0	0	0	0	17240	1722	60	0	11131	0	VPS13C	15	62316019	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	150500	62316019	40215373	1429	24553											
PTPLAD1	51495	genome.wustl.edu	37	chr15	65868695	65868695	+	Frame_Shift_Del	DEL	A	A	-																															gcgcagacggcgctatggacAaaaaaagaaaaagatccact																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:65868695delA	ENST00000261875.5	+	11	1233	c.1067delA	c.(1066-1068)caafs	p.Q356fs	PTPLAD1_ENST00000566511.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000568793.1_Frame_Shift_Del_p.Q331fs|PTPLAD1_ENST00000565299.1_Frame_Shift_Del_p.Q394fs|PTPLAD1_ENST00000569894.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000566074.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000562901.1_Frame_Shift_Del_p.Q239fs|PTPLAD1_ENST00000442729.2_Frame_Shift_Del_p.Q301fs	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	356				RRYGQKKKKIH -> LKMRAGAVAHACDPSALGG (in Ref. 1; CAB69070). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGCTATGGACAAAAAAAGAAA	0.333																																																	0													30	27	28					15																	65868695		1792	4067	5859	SO:0001589	frameshift_variant	0				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.1067delA	15.37:g.65868695delA	ENSP00000261875:p.Gln356fs		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Frame_Shift_Del	DEL	pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.K358fs	ENST00000261875.5	37	c.1067	CCDS45282.1	15																																																																																			PTPLAD1	-	NULL	ENSG00000074696		0.333	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1		0	41	0	A	NM_016395		65868695	1	tier1		no_errors	ENST00000261875	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	1.000	-	-	65868695	A	-	65868695	7	5	87	1	0	1	0	1	0	0	0	0	12818	130	5	0	1109	0	PTPLAD1	15	65868695	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	3552676	65868695	36662697	1430	24554	96	2									
PTPLAD1	51495	genome.wustl.edu	37	chr15	65868701	65868702	+	Missense_Mutation	DNP	AG	AG	GA																															acggcgctatggacaaaaaaAgaaaaagatccactaaaaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A|G	A|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:65868701_65868702AG>GA	ENST00000261875.5	+	11	1239_1240	c.1073_1074AG>GA	c.(1072-1074)aAG>aGA	p.K358R	PTPLAD1_ENST00000566511.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.K333R|PTPLAD1_ENST00000565299.1_Missense_Mutation_p.K396R|PTPLAD1_ENST00000569894.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000566074.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000561763.1_3'UTR|PTPLAD1_ENST00000562901.1_Missense_Mutation_p.K241R|PTPLAD1_ENST00000442729.2_Missense_Mutation_p.K303R	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	358	Poly-Lys.			RRYGQKKKKIH -> LKMRAGAVAHACDPSALGG (in Ref. 1; CAB69070). {ECO:0000305}.	activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGACAAAAAAAGAAAAAGATCC	0.332																																																	0																																										SO:0001583	missense	0				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		Exception_encountered	15.37:g.65868701_65868702delinsGA	ENSP00000261875:p.Lys358Arg		A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Missense_Mutation|Silent	SNP	pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.K358R|p.K358	ENST00000261875.5	37	c.1073|c.1074	CCDS45282.1	15																																																																																			PTPLAD1	-	NULL	ENSG00000074696		0.332	PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPLAD1	HGNC	protein_coding	OTTHUMT00000419739.1		0	39	0	A|G	NM_016395		65868701|65868702	1			no_errors	ENST00000261875	ensembl	human	known	74_37	missense|silent	13.16|13.51	33|32	5	SNP	1.000	G|A	GA	65868702	AG	GA	65868701	3	3	87	1	0	0	0	0	1	0	0	0	12818	72	3	4	1115	4	PTPLAD1	15	65868701	Missense_Mutation	DNP	AG	TCGA-L5-A8NM-01A-11D-A37C-09	6	65868701	36662691	1431	24555	96	2									
DENND4A	10260	genome.wustl.edu	37	chr15	66044893	66044893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtactcccactaatatttgCggggcgcccatagggagtac	9	9	12	11	2	0	0	0	0	0	0	1	1	1	1	2	4	3	2	2	4	5	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:66044893C>T	ENST00000431932.2	-	4	593	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_ENST00000443035.3_Missense_Mutation_p.A129T	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	129	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTAATATTTGCGGGGCGCCCA	0.358																																																	0													58	53	54					15																	66044893		1820	4069	5889	SO:0001583	missense	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"DENN/MADD domain containing"	24321	protein-coding gene	gene with protein product		600382	"c-myc promoter binding protein"	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.385G>A	15.37:g.66044893C>T	ENSP00000396830:p.Ala129Thr		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.A129T	ENST00000431932.2	37	c.385	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635091	0.67130	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.26810	1.71;1.71	5.1	4.19	0.49359	MABP domain (1);	0.054418	0.64402	N	0.000001	T	0.52484	0.1737	M	0.80183	2.485	0.80722	D	1	P;D;D	0.89917	0.945;1.0;1.0	P;D;D	0.87578	0.621;0.998;0.997	T	0.59616	-0.7421	10	0.87932	D	0	.	13.7123	0.62675	0.0:0.9252:0.0:0.0748	.	129;129;129	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	T	129	ENSP00000391167:A129T;ENSP00000396830:A129T	ENSP00000396830:A129T	A	-	1	0	DENND4A	63831947	1.000000	0.71417	0.998000	0.56505	0.176000	0.22953	7.747000	0.85070	1.268000	0.44264	0.563000	0.77884	GCA	DENND4A	-	pfscan_uDENN_dom	ENSG00000174485		0.358	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	-	0	63	0	C	NM_005848		66044893	-1	tier1	-	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T	T	66044893	C	T	66044893	3	4	87	1	0	0	0	0	1	0	0	0	4447	768	27	1	5455	1	DENND4A	15	66044893	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	176192	66044893	36486499	1432	24556											
ITGA11	22801	genome.wustl.edu	37	chr15	68695277	68695277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttattgccactgatgtcGtgctgctgcactgtgtagcc	6	13	10	12	1	0	1	0	1	0	0	1	1	0	1	2	0	5	4	2	0	2	3	rs377373505		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:68695277G>A	ENST00000315757.7	-	2	230	c.144C>T	c.(142-144)caC>caT	p.H48H	ITGA11_ENST00000423218.2_Silent_p.H48H	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	48					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACTGATGTCGTGCTGCTGCA	0.627																																																	0								G		0,4184		0,0,2092	49	55	53		144	-1.9	1	15		53	4,8424		0,4,4210	no	coding-synonymous	ITGA11	NM_001004439.1		0,4,6302	AA,AG,GG		0.0475,0.0,0.0317		48/1189	68695277	4,12608	2092	4214	6306	SO:0001819	synonymous_variant	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.144C>T	15.37:g.68695277G>A			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H48	ENST00000315757.7	37	c.144	CCDS45291.1	15																																																																																			ITGA11	-	smart_Int_alpha_beta-p	ENSG00000137809		0.627	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		-	0	49	0	G	NM_012211		68695277	-1	tier1	-	no_errors	ENST00000315757	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.996	A	A	68695277	G	A	68695277	2	1	87	1	0	0	0	0	0	0	0	1	7901	1136	40	1		1	ITGA11	15	68695277	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2650384	68695277	33836115	1433	24557											
GLCE	26035	genome.wustl.edu	37	chr15	69548596	69548596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagtatgatggctatgatCggtttgaattctctcatagc	9	16	9	7	1	3	3	2	3	1	0	5	3	3	3	0	2	1	3	0	2	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:69548596C>T	ENST00000261858.2	+	3	679	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	GLCE_ENST00000559420.2_Missense_Mutation_p.R87W	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	151					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	heparosan-N-sulfate-glucuronate 5-epimerase activity (GO:0047464)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)|UDP-glucuronate 5'-epimerase activity (GO:0050379)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TGGCTATGATCGGTTTGAATT	0.423																																																	0													263	257	259					15																	69548596		2200	4298	6498	SO:0001583	missense	0			AB020643	CCDS32277.1	15q23	2007-01-30	2007-01-30			ENSG00000138604	5.1.3.12		17855	protein-coding gene	gene with protein product	"heparan sulfate epimerase"	612134	"D-glucuronyl C5-epimerase", "UDP-glucuronic acid epimerase"			15853773	Standard	NM_015554		Approved	KIAA0836, HSEPI	uc002ary.1	O94923		ENST00000261858.2:c.451C>T	15.37:g.69548596C>T	ENSP00000261858:p.Arg151Trp		Q6GUQ2	Missense_Mutation	SNP	pfam_C5-epim	p.R151W	ENST00000261858.2	37	c.451	CCDS32277.1	15	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715438	0.68844	.	.	ENSG00000138604	ENST00000261858	T	0.35236	1.32	5.3	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65401	-0.6177	10	0.87932	D	0	-10.9248	12.923	0.58243	0.2936:0.7064:0.0:0.0	.	151	O94923	GLCE_HUMAN	W	151	ENSP00000261858:R151W	ENSP00000261858:R151W	R	+	1	2	GLCE	67335650	0.474000	0.25886	0.939000	0.37840	0.964000	0.63967	1.154000	0.31688	1.333000	0.45449	0.655000	0.94253	CGG	GLCE	-	NULL	ENSG00000138604		0.423	GLCE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLCE	HGNC	protein_coding		-	0	65	0	C	NM_015554		69548596	1	tier1	-	no_errors	ENST00000261858	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.975	T	T	69548596	C	T	69548596	3	4	87	1	0	0	0	0	1	0	0	0	6458	875	31	1	453	1	GLCE	15	69548596	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	853319	69548596	32982796	1434	24558											
HCN4	10021	genome.wustl.edu	37	chr15	73615063	73615063	+	Frame_Shift_Del	DEL	C	C	-																															tcccactgcccccgctgccaCccccagccctggggaagagc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:73615063delC	ENST00000261917.3	-	8	4364	c.3371delG	c.(3370-3372)ggtfs	p.G1125fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1125					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCCGCTGCCACCCCCAGCCCT	0.721																																																	0													6	7	7					15																	73615063		2134	4185	6319	SO:0001589	frameshift_variant	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3371delG	15.37:g.73615063delC	ENSP00000261917:p.Gly1125fs		Q9UMQ7	Frame_Shift_Del	DEL	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.G1124fs	ENST00000261917.3	37	c.3371	CCDS10248.1	15																																																																																			HCN4	-	NULL	ENSG00000138622		0.721	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2		0	10	0	C	NM_005477		73615063	-1	tier1		no_errors	ENST00000261917	ensembl	human	known	74_37	frame_shift_del	43.75	9	7	DEL	0.564	-	-	73615063	C	-	73615063	7	5	87	1	0	1	0	1	0	0	0	0	7026	507	18	0	244	0	HCN4	15	73615063	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	4066467	73615063	28916329	1435	24559											
TBC1D21	161514	genome.wustl.edu	37	chr15	74174063	74174063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagttcccaggatgagCggctcacggtggacagcatg	9	6	16	10	2	1	2	1	1	0	1	2	4	2	4	1	5	2	4	1	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:74174063C>T	ENST00000300504.2	+	3	330	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	TBC1D21_ENST00000562056.1_Missense_Mutation_p.R83W|TBC1D21_ENST00000535547.2_Missense_Mutation_p.R47W	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	83	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CCAGGATGAGCGGCTCACGGT	0.642																																																	0													51	49	50					15																	74174063		2198	4297	6495	SO:0001583	missense	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.247C>T	15.37:g.74174063C>T	ENSP00000300504:p.Arg83Trp		B9A6M2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R83W	ENST00000300504.2	37	c.247	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721574	0.68959	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.05081	3.5;3.5	4.92	2.88	0.33553	Rab-GAP/TBC domain (4);	0.000000	0.41500	D	0.000876	T	0.14527	0.0351	L	0.42245	1.32	0.35459	D	0.796394	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	T	0.08432	-1.0722	10	0.87932	D	0	.	7.4433	0.27196	0.1913:0.6238:0.1849:0.0	.	47;83	B9A6M2;Q8IYX1	.;TBC21_HUMAN	W	83;47	ENSP00000300504:R83W;ENSP00000439325:R47W	ENSP00000300504:R83W	R	+	1	2	TBC1D21	71961116	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.103000	0.31062	1.049000	0.40321	0.563000	0.77884	CGG	TBC1D21	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167139		0.642	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	-	0	36	0	C	NM_153356		74174063	1	tier1	-	no_errors	ENST00000300504	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	T	T	74174063	C	T	74174063	3	4	87	1	0	0	0	0	1	0	0	0	15657	759	27	1	257	1	TBC1D21	15	74174063	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	559000	74174063	28357329	1436	24560											
PML	5371	genome.wustl.edu	37	chr15	74327656	74327656	+	Intron	DEL	C	C	-																															ctgccctgtggcacataccaCcccccagcttggcctcccca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:74327656delC	ENST00000268058.3	+	7	1806				PML_ENST00000268059.6_Frame_Shift_Del_p.H618fs|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000569477.1_Frame_Shift_Del_p.P633fs|PML_ENST00000564428.1_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000354026.6_Frame_Shift_Del_p.H570fs|PML_ENST00000359928.4_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCACATACCACCCCCCAGCTT	0.692			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													59	67	65					15																	74327656		2198	4297	6495	SO:0001627	intron_variant	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+785C>-	15.37:g.74327656delC			E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Frame_Shift_Del	DEL	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.P620fs	ENST00000268058.3	37	c.1854	CCDS10255.1	15																																																																																			PML	-	NULL	ENSG00000140464		0.692	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3		0	155	0	C	NM_002675		74327656	1	tier1		no_errors	ENST00000268059	ensembl	human	known	74_37	frame_shift_del	10.37	121	14	DEL	0.000	-	-	74327656	C	-	74327656	6	5	87	0	1	1	0	1	0	0	0	0	12174	506	18	0		0	PML	15	74327656	Intron	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	153593	74327656	28203736	1437	24561											
ARID3B	10620	genome.wustl.edu	37	chr15	74883534	74883534	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagtgtgagaagaaagcCttgagttccccagccgagct	11	9	12	9	1	0	4	0	3	0	2	1	6	1	4	4	0	3	2	4	0	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:74883534C>T	ENST00000346246.5	+	6	1155	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	308	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						AGAAGAAAGCCTTGAGTTCCC	0.557																																																	0													110	122	118					15																	74883534		2197	4293	6490	SO:0001819	synonymous_variant	0				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"-"	14350	protein-coding gene	gene with protein product		612457	"AT rich interactive domain 3B (BRIGHT- like)"				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.924C>T	15.37:g.74883534C>T			O95443|Q59HC9|Q6P9C9	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.A308	ENST00000346246.5	37	c.924	CCDS10264.1	15																																																																																			ARID3B	-	superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd	ENSG00000179361		0.557	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	-	0	82	0	C	NM_006465		74883534	1	tier1	-	no_errors	ENST00000346246	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.975	T	T	74883534	C	T	74883534	2	4	87	1	0	0	0	0	0	0	0	1	917	668	24	3		3	ARID3B	15	74883534	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	555878	74883534	27647858	1438	24562											
NEIL1	79661	genome.wustl.edu	37	chr15	75641538	75641538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgccacgccatgccCacctgcgcttttacacggcc	7	7	10	17	3	0	0	0	0	0	0	0	1	0	1	5	2	5	2	5	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:75641538C>T	ENST00000564784.1	+	3	921	c.292C>T	c.(292-294)Cac>Tac	p.H98Y	NEIL1_ENST00000569035.1_Missense_Mutation_p.H98Y|NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000355059.4_Missense_Mutation_p.H98Y			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	98					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						ACGCCATGCCCACCTGCGCTT	0.692								Base excision repair (BER), DNA glycosylases																																									0													29	30	29					15																	75641538		2195	4290	6485	SO:0001583	missense	0			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.292C>T	15.37:g.75641538C>T	ENSP00000457352:p.His98Tyr		D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.H98Y	ENST00000564784.1	37	c.292	CCDS10278.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.575331|4.575331	0.86645|0.86645	.|.	.|.	ENSG00000140398|ENSG00000140398	ENST00000355059|ENST00000336572	T|.	0.37915|.	1.17|.	5.4|5.4	5.4|5.4	0.78164|0.78164	DNA glycosylase/AP lyase, catalytic domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86851|0.86851	0.6032|0.6032	M|M	0.93763|0.93763	3.455|3.455	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90171|0.90171	0.4235|0.4235	10|6	0.87932|0.87932	D|D	0|0	-25.0088|-25.0088	18.146|18.146	0.89655|0.89655	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	98|.	Q96FI4|.	NEIL1_HUMAN|.	Y|L	98|83	ENSP00000347170:H98Y|.	ENSP00000347170:H98Y|ENSP00000338328:P83L	H|P	+|+	1|2	0|0	NEIL1|NEIL1	73428591|73428591	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.592000|0.592000	0.36648|0.36648	7.114000|7.114000	0.77103|0.77103	2.525000|2.525000	0.85131|0.85131	0.561000|0.561000	0.74099|0.74099	CAC|CCA	NEIL1	-	pfam_DNA_glycosylase/AP_lyase_cat,superfamily_DNA_glycosylase/AP_lyase_cat,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	ENSG00000140398		0.692	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	-	0	91	0	C	NM_024608		75641538	1	tier1	-	no_errors	ENST00000355059	ensembl	human	known	74_37	missense	35.71	44	25	SNP	1.000	T	T	75641538	C	T	75641538	3	4	87	1	0	0	0	0	1	0	0	0	10357	594	21	3	294	3	NEIL1	15	75641538	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	758004	75641538	26889854	1439	24563											
SNUPN	10073	genome.wustl.edu	37	chr15	75902272	75902272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttccaacagggcacaCgaccacaatccattcctgcc	10	10	5	16	1	1	0	0	0	1	0	4	1	4	0	5	1	2	1	5	1	2	3	rs377184433		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:75902272C>T	ENST00000564644.1	-	5	945	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	SNUPN_ENST00000308588.5_Missense_Mutation_p.V123M|SNUPN_ENST00000567134.1_Missense_Mutation_p.V123M|SNUPN_ENST00000564675.1_Missense_Mutation_p.V123M|SNUPN_ENST00000371091.5_Missense_Mutation_p.V165M			O95149	SPN1_HUMAN	snurportin 1	123	Necessary for interaction with XPO1.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)	p.V123M(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						ACAGGGCACACGACCACAATC	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)							MET/VAL,MET/VAL,MET/VAL	1,4393		0,1,2196	94	78	83		367,367,367	4.6	1	15		83	0,8588		0,0,4294	no	missense,missense,missense	SNUPN	NM_001042581.1,NM_001042588.1,NM_005701.3	21,21,21	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,benign	123/361,123/361,123/361	75902272	1,12981	2197	4294	6491	SO:0001583	missense	0			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.367G>A	15.37:g.75902272C>T	ENSP00000454852:p.Val123Met		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.V165M	ENST00000564644.1	37	c.493	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	N	21.8	4.195745	0.78902	2.28E-4	0.0	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.63255	-0.03;-0.03	5.51	4.56	0.56223	.	0.116409	0.56097	D	0.000021	T	0.64692	0.2621	L	0.49126	1.545	0.58432	D	0.999998	D;D	0.64830	0.963;0.994	B;P	0.50352	0.159;0.638	T	0.66056	-0.6018	10	0.45353	T	0.12	-14.5938	15.2446	0.73497	0.0:0.8596:0.1404:0.0	.	165;123	C9K0X5;O95149	.;SPN1_HUMAN	M	123;165	ENSP00000309831:V123M;ENSP00000360132:V165M	ENSP00000309831:V123M	V	-	1	0	SNUPN	73689327	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.741000	0.55090	2.622000	0.88805	0.531000	0.56144	GTG	SNUPN	-	pirsf_Snurportin-1	ENSG00000169371		0.498	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	-	0	50	0	C	NM_005701		75902272	-1	tier1	-	no_errors	ENST00000371091	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	T	T	75902272	C	T	75902272	3	4	87	1	0	0	0	0	1	0	0	0	14922	536	19	1	739	1	SNUPN	15	75902272	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	260734	75902272	26629120	1440	24564											
SGK269	79834	genome.wustl.edu	37	chr15	77407253	77407253	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcatagctgtaagagcaGcagacacacctgcctctcat	13	7	9	12	0	1	3	1	0	1	3	2	3	1	3	2	0	5	5	2	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:77407253G>A	ENST00000560626.2	-	7	4961	c.4486C>T	c.(4486-4488)Ctg>Ttg	p.L1496L	PEAK1_ENST00000312493.4_Silent_p.L1496L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1496	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGTAAGAGCAGCAGACACACC	0.527																																																	0													62	65	64					15																	77407253		2075	4199	6274	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4486C>T	15.37:g.77407253G>A			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.L1496	ENST00000560626.2	37	c.4486	CCDS42062.1	15																																																																																			PEAK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000173517		0.527	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3		0	42	0	G			77407253	-1			no_errors	ENST00000312493	ensembl	human	known	74_37	silent	6.98	40	3	SNP	1.000	A	A	77407253	G	A	77407253	2	1	87	1	0	0	0	0	0	0	0	1	14256	962	34	3		3	SGK269	15	77407253	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1504981	77407253	25124139	1441	24565											
SGK269	79834	genome.wustl.edu	37	chr15	77472838	77472838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggctgctgacacatccacGacagtatatggcttgcacaa	12	9	9	11	1	0	1	0	1	0	0	1	2	1	1	1	2	2	5	1	2	3	3	rs374860881	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:77472838G>A	ENST00000560626.2	-	4	1906	c.1431C>T	c.(1429-1431)gtC>gtT	p.V477V	PEAK1_ENST00000558305.1_Silent_p.V477V|PEAK1_ENST00000312493.4_Silent_p.V477V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	477					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V477V(2)									ACACATCCACGACAGTATATG	0.507													g|||	2	0.000399361	0.0015	0	5008	,	,		19225	0		0	False		,,,				2504	0																2	Substitution - coding silent(2)	large_intestine(2)						A		0,4056		0,0,2028	127	125	126		1431	-11.1	0	15		126	3,8379		0,3,4188	no	coding-synonymous	PEAK1	NM_024776.3		0,3,6216	AA,AG,GG		0.0358,0.0,0.0241		477/1747	77472838	3,12435	2028	4191	6219	SO:0001819	synonymous_variant	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1431C>T	15.37:g.77472838G>A			Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.V477	ENST00000560626.2	37	c.1431	CCDS42062.1	15																																																																																			PEAK1	-	NULL	ENSG00000173517		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3	-	0	78	0	G			77472838	-1	tier1	-	no_errors	ENST00000312493	ensembl	human	known	74_37	silent	20.00	48	12	SNP	0.003	A	A	77472838	G	A	77472838	2	1	87	1	0	0	0	0	0	0	0	1	14256	1045	37	1		1	SGK269	15	77472838	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	65585	77472838	25058554	1442	24566											
LINGO1	84894	genome.wustl.edu	37	chr15	77906417	77906417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttgaacttgcggggcGcgtcggcggagctgatgcct	5	10	16	10	5	1	2	1	2	0	0	2	3	1	3	1	4	4	2	1	4	1	2	rs371235435		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:77906417G>A	ENST00000355300.6	-	2	2006	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A605V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	611					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CTTGCGGGGCGCGTCGGCGGA	0.667																																																	0								G	VAL/ALA	1,3935		0,1,1967	33	34	34		1832	5.4	0.9	15		34	0,8250		0,0,4125	no	missense	LINGO1	NM_032808.5	64	0,1,6092	AA,AG,GG		0.0,0.0254,0.0082	possibly-damaging	611/621	77906417	1,12185	1968	4125	6093	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1832C>T	15.37:g.77906417G>A	ENSP00000347451:p.Ala611Val		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A611V	ENST00000355300.6	37	c.1832	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266023	0.59540	2.54E-4	0.0	ENSG00000169783	ENST00000355300	T	0.53857	0.6	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.49983	0.1589	L	0.47716	1.5	0.80722	D	1	P	0.50710	0.938	B	0.40444	0.329	T	0.58601	-0.7608	10	0.87932	D	0	.	19.0895	0.93221	0.0:0.0:1.0:0.0	.	611	Q96FE5	LIGO1_HUMAN	V	611	ENSP00000347451:A611V	ENSP00000347451:A611V	A	-	2	0	LINGO1	75693472	1.000000	0.71417	0.899000	0.35326	0.756000	0.42949	9.869000	0.99810	2.509000	0.84616	0.561000	0.74099	GCG	LINGO1	-	NULL	ENSG00000169783		0.667	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	-	0	25	0	G	NM_032808		77906417	-1	tier1	-	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A	A	77906417	G	A	77906417	3	1	87	1	0	0	0	0	1	0	0	0	8844	1087	38	1	34	1	LINGO1	15	77906417	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	433579	77906417	24624975	1443	24567											
IREB2	3658	genome.wustl.edu	37	chr15	78762887	78762887	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttagacctgaaacagtgTtaaaaaatcaagaagtagaa	19	10	7	5	0	1	4	1	1	0	3	1	4	1	4	1	0	1	2	1	0	9	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:78762887T>C	ENST00000258886.8	+	6	792	c.643T>C	c.(643-645)Tta>Cta	p.L215L	IREB2_ENST00000560440.1_Silent_p.L215L|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	215					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAAACAGTGTTAAAAAATCA	0.318																																					NSCLC(200;764 2208 35157 49871 50830)												0													101	101	101					15																	78762887		2196	4293	6489	SO:0001819	synonymous_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.643T>C	15.37:g.78762887T>C			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.L215	ENST00000258886.8	37	c.643	CCDS10302.1	15																																																																																			IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.318	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0	82	0	T	NM_004136		78762887	1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	silent	8.86	72	7	SNP	1.000	C	C	78762887	T	C	78762887	2	2	87	1	0	0	0	0	0	0	0	1	7853	1722	60	4		4	IREB2	15	78762887	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	856470	78762887	23768505	1444	24568											
CHRNB4	1143	genome.wustl.edu	37	chr15	78917544	78917544	+	Frame_Shift_Del	DEL	C	C	-																															aagaggggcggtaggaagagCcccacagtgcccaggacgca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:78917544delC	ENST00000261751.3	-	6	1539	c.1428delG	c.(1426-1428)gggfs	p.G476fs	CHRNB4_ENST00000412074.2_Frame_Shift_Del_p.G150fs|RP11-335K5.2_ENST00000559120.1_RNA	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	476					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GTAGGAAGAGCCCCACAGTGC	0.622																																																	0													210	189	196					15																	78917544		2196	4293	6489	SO:0001589	frameshift_variant	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1964	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 4 (neuronal)"	118509	"cholinergic receptor, nicotinic, beta polypeptide 4"			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1428delG	15.37:g.78917544delC	ENSP00000261751:p.Gly476fs		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Frame_Shift_Del	DEL	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L477fs	ENST00000261751.3	37	c.1428	CCDS10306.1	15																																																																																			CHRNB4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000117971		0.622	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1		0	54	0	C			78917544	-1	tier1		no_errors	ENST00000261751	ensembl	human	known	74_37	frame_shift_del	19.23	42	10	DEL	0.868	-	-	78917544	C	-	78917544	7	5	87	1	0	1	0	1	0	0	0	0	3400	726	26	0	72	0	CHRNB4	15	78917544	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	154657	78917544	23613848	1445	24569											
BTBD1	53339	genome.wustl.edu	37	chr15	83699022	83699022	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggggtttagggttgacagtAaaatgaagaaagaggtttac	14	10	14	3	1	0	4	0	2	0	2	0	4	0	4	0	4	1	4	0	4	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:83699022A>G	ENST00000261721.4	-	5	1123	c.921T>C	c.(919-921)ttT>ttC	p.F307F	BTBD1_ENST00000379403.2_Silent_p.F307F|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	307					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GGTTGACAGTAAAATGAAGAA	0.403																																																	0													149	150	150					15																	83699022		2203	4300	6503	SO:0001819	synonymous_variant	0			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"BTB/POZ domain containing"	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.921T>C	15.37:g.83699022A>G			A6NMI8|Q9BX71|Q9NWN4	Silent	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.F307	ENST00000261721.4	37	c.921	CCDS10322.1	15																																																																																			BTBD1	-	NULL	ENSG00000064726		0.403	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	-	0	46	0	A			83699022	-1	tier1	-	no_errors	ENST00000261721	ensembl	human	known	74_37	silent	13.16	33	5	SNP	0.994	G	G	83699022	A	G	83699022	2	3	87	1	0	0	0	0	0	0	0	1	1541	359	13	4		4	BTBD1	15	83699022	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	4781478	83699022	18832370	1446	24570											
NMB	4828	genome.wustl.edu	37	chr15	85198627	85198627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgcagtatttgtaccAgcagcctcctgtactgaaga	10	13	8	10	0	1	2	0	1	1	1	2	2	2	2	3	0	5	5	3	0	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:85198627A>G	ENST00000360476.3	-	3	739	c.344T>C	c.(343-345)cTg>cCg	p.L115P	WDR73_ENST00000398528.3_5'Flank|WDR73_ENST00000434634.2_5'Flank|NMB_ENST00000394588.3_Silent_p.A113A			P08949	NMB_HUMAN	neuromedin B	115					arachidonic acid secretion (GO:0050482)|cell-cell signaling (GO:0007267)|glucose homeostasis (GO:0042593)|negative regulation of hormone secretion (GO:0046888)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hormone secretion (GO:0046887)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|neuron projection (GO:0043005)	hormone activity (GO:0005179)			endometrium(1)	1				all cancers(203;3.5e-06)		TATTTGTACCAGCAGCCTCCT	0.507																																																	0													189	188	189					15																	85198627		2203	4299	6502	SO:0001583	missense	0				CCDS10332.1, CCDS42076.1	15q25.2-q25.3	2013-09-19			ENSG00000197696	ENSG00000197696			7842	protein-coding gene	gene with protein product		162340				2458345	Standard	NM_021077		Approved	MGC2277, MGC3936, MGC17211	uc002bla.3	P08949	OTTHUMG00000148666	ENST00000360476.3:c.344T>C	15.37:g.85198627A>G	ENSP00000353664:p.Leu115Pro		Q96A06|Q96HH5	Missense_Mutation	SNP	pfam_Bombesin	p.L115P	ENST00000360476.3	37	c.344	CCDS10332.1	15	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971361	0.34754	.	.	ENSG00000197696	ENST00000360476	T	0.56941	0.43	4.77	3.65	0.41850	.	.	.	.	.	T	0.40886	0.1135	.	.	.	0.80722	D	1	B	0.29646	0.253	B	0.26517	0.07	T	0.31280	-0.9949	8	0.54805	T	0.06	1.3466	6.8392	0.23953	0.8964:0.0:0.1036:0.0	.	115	P08949	NMB_HUMAN	P	115	ENSP00000353664:L115P	ENSP00000353664:L115P	L	-	2	0	NMB	82999631	0.336000	0.24757	0.987000	0.45799	0.958000	0.62258	1.030000	0.30153	0.863000	0.35553	0.533000	0.62120	CTG	NMB	-	NULL	ENSG00000197696		0.507	NMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMB	HGNC	protein_coding	OTTHUMT00000308995.1	-	0	70	0	A	NM_021077		85198627	-1	tier1	-	no_errors	ENST00000360476	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.981	G	G	85198627	A	G	85198627	3	3	87	1	0	0	0	0	1	0	0	0	10525	188	7	4	129	4	NMB	15	85198627	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1499605	85198627	17332765	1447	24571											
AKAP13	11214	genome.wustl.edu	37	chr15	86122542	86122542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaagggcacggaaggcCtttcgtcctgtggaaacaga	12	7	14	8	2	0	1	0	0	0	1	2	4	1	3	2	4	1	2	2	4	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:86122542C>A	ENST00000394518.2	+	7	1338	c.1243C>A	c.(1243-1245)Ctt>Att	p.L415I	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.L415I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	415					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACGGAAGGCCTTTCGTCCTG	0.507																																					Melanoma(94;603 1453 3280 32295 32951)												0													73	79	77					15																	86122542		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1243C>A	15.37:g.86122542C>A	ENSP00000378026:p.Leu415Ile		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.L415I	ENST00000394518.2	37	c.1243	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	9.747	1.166436	0.21621	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.14516	2.53;2.5	5.45	0.0569	0.14321	.	.	.	.	.	T	0.08670	0.0215	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.21147	0.031;0.052	B;B	0.18871	0.01;0.023	T	0.31641	-0.9936	9	0.54805	T	0.06	.	6.3404	0.21319	0.0:0.5072:0.2463:0.2464	.	415;415	Q12802;Q12802-2	AKP13_HUMAN;.	I	415;415;414;414	ENSP00000354718:L415I;ENSP00000378026:L415I	ENSP00000354718:L415I	L	+	1	0	AKAP13	83923546	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.111000	0.10807	-0.425000	0.07371	-1.886000	0.00541	CTT	AKAP13	-	NULL	ENSG00000170776		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	30	0	C	NM_007200		86122542	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	23.26	33	10	SNP	0.000	A	A	86122542	C	A	86122542	3	1	87	1	0	0	0	0	1	0	0	0	449	681	24	3	1265	3	AKAP13	15	86122542	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	923915	86122542	16408850	1448	24572											
AKAP13	11214	genome.wustl.edu	37	chr15	86278265	86278265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggaaatctgggaggcaCacttgggccgactgtcagca	10	7	15	9	1	2	0	1	0	1	0	2	4	2	2	1	4	1	2	1	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:86278265C>T	ENST00000394518.2	+	31	7420	c.7325C>T	c.(7324-7326)aCa>aTa	p.T2442I	AKAP13_ENST00000394510.2_Missense_Mutation_p.T687I|AKAP13_ENST00000361243.2_Missense_Mutation_p.T2446I|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2442	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTGGGAGGCACACTTGGGCCG	0.517																																					Melanoma(94;603 1453 3280 32295 32951)												0													231	238	235					15																	86278265		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7325C>T	15.37:g.86278265C>T	ENSP00000378026:p.Thr2442Ile		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.T2446I	ENST00000394518.2	37	c.7337	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836565	0.32421	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.27256	2.74;2.75;1.68	5.77	3.89	0.44902	.	.	.	.	.	T	0.26593	0.0650	L	0.55481	1.735	0.09310	N	1	P;P	0.41848	0.651;0.763	B;B	0.42422	0.216;0.387	T	0.14531	-1.0469	9	0.54805	T	0.06	.	6.8865	0.24206	0.0:0.7022:0.1452:0.1526	.	2442;2446	Q12802;Q12802-2	AKP13_HUMAN;.	I	2446;2442;2445;2421;687	ENSP00000354718:T2446I;ENSP00000378026:T2442I;ENSP00000378018:T687I	ENSP00000354718:T2446I	T	+	2	0	AKAP13	84079269	0.000000	0.05858	0.041000	0.18516	0.656000	0.38851	0.390000	0.20768	1.439000	0.47511	0.467000	0.42956	ACA	AKAP13	-	NULL	ENSG00000170776		0.517	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	38	0	C	NM_007200		86278265	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	T	T	86278265	C	T	86278265	3	4	87	1	0	0	0	0	1	0	0	0	449	478	17	3	7513	3	AKAP13	15	86278265	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	155723	86278265	16253127	1449	24573											
AKAP13	11214	genome.wustl.edu	37	chr15	86284337	86284337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggtgctgagcgagaggGcgctcactcgcagcttgtcc	7	8	14	12	3	1	2	1	1	0	1	3	3	2	2	1	2	4	4	1	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:86284337G>A	ENST00000394518.2	+	35	7764	c.7669G>A	c.(7669-7671)Gcg>Acg	p.A2557T	AKAP13_ENST00000394510.2_Missense_Mutation_p.A802T|AKAP13_ENST00000361243.2_Missense_Mutation_p.A2561T|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2557	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGCGAGAGGGCGCTCACTCG	0.637																																					Melanoma(94;603 1453 3280 32295 32951)												0													47	47	47					15																	86284337		2202	4299	6501	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7669G>A	15.37:g.86284337G>A	ENSP00000378026:p.Ala2557Thr		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A2561T	ENST00000394518.2	37	c.7681	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283733	0.23392	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.21932	1.98;1.98;2.99	5.19	2.26	0.28386	.	.	.	.	.	T	0.14356	0.0347	L	0.27053	0.805	0.29474	N	0.856809	B;B	0.15141	0.007;0.012	B;B	0.16722	0.007;0.016	T	0.17592	-1.0364	9	0.44086	T	0.13	.	7.5831	0.27976	0.1526:0.1472:0.7002:0.0	.	2557;2561	Q12802;Q12802-2	AKP13_HUMAN;.	T	2561;2557;2560;2536;802	ENSP00000354718:A2561T;ENSP00000378026:A2557T;ENSP00000378018:A802T	ENSP00000354718:A2561T	A	+	1	0	AKAP13	84085341	0.992000	0.36948	0.001000	0.08648	0.101000	0.19017	1.914000	0.39966	0.193000	0.20303	-0.136000	0.14681	GCG	AKAP13	-	NULL	ENSG00000170776		0.637	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1		0	69	0	G	NM_007200		86284337	1			no_errors	ENST00000361243	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.824	A	A	86284337	G	A	86284337	3	1	87	1	0	0	0	0	1	0	0	0	449	1203	42	3	7873	3	AKAP13	15	86284337	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6072	86284337	16247055	1450	24574											
C15orf42	90381	genome.wustl.edu	37	chr15	90163024	90163024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctattctgtgtctcagccGaagtctcgaagtgtgcaaag	9	13	10	9	2	4	0	1	0	4	0	6	2	4	0	1	0	2	1	1	0	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:90163024G>A	ENST00000268138.7	+	18	3210	c.3105G>A	c.(3103-3105)ccG>ccA	p.P1035P	TICRR_ENST00000560985.1_Silent_p.P1034P|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1035					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										TGTCTCAGCCGAAGTCTCGAA	0.468																																																	0													115	110	111					15																	90163024		1941	4149	6090	SO:0001819	synonymous_variant	0			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"TOPBP1-interacting replication-stimulating protein", "SLD3 homolog (S. cerevisiae)"	613298	"chromosome 15 open reading frame 42"	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.3105G>A	15.37:g.90163024G>A			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	NULL	p.P1035	ENST00000268138.7	37	c.3105	CCDS10352.2	15																																																																																			TICRR	-	NULL	ENSG00000140534		0.468	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	-	0	67	0	G	NM_152259		90163024	1	tier1	-	no_errors	ENST00000268138	ensembl	human	known	74_37	silent	14.89	40	7	SNP	0.001	A	A	90163024	G	A	90163024	2	1	87	1	0	0	0	0	0	0	0	1	1801	1045	37	1		1	C15orf42	15	90163024	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3878687	90163024	12368368	1451	24575											
MESP2	145873	genome.wustl.edu	37	chr15	90320197	90320197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcaaggacaggggcaaggGcaggggcgcaggccgggcct	8	1	22	10	2	0	0	0	0	0	0	0	1	0	1	2	9	0	4	2	9	2	0	rs548428487		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:90320197G>A	ENST00000341735.3	+	1	609	c.609G>A	c.(607-609)ggG>ggA	p.G203G	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	203	13 X 2 AA tandem repeats of G-Q.			Missing (in Ref. 2; AAI11414). {ECO:0000305}.	mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			aggggcaagggcaggggcGCA	0.776																																																	0													3	6	5					15																	90320197		1661	3698	5359	SO:0001819	synonymous_variant	0				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"Basic helix-loop-helix proteins"	29659	protein-coding gene	gene with protein product		605195	"mesoderm posterior 2 homolog (mouse)"			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.609G>A	15.37:g.90320197G>A			Q7RTU2	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G203	ENST00000341735.3	37	c.609	CCDS42078.1	15																																																																																			MESP2	-	NULL	ENSG00000188095		0.776	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MESP2	HGNC	protein_coding	OTTHUMT00000416421.1		0	12	0	G	XM_085261		90320197	1			no_errors	ENST00000341735	ensembl	human	known	74_37	silent	58.33	5	7	SNP	0.122	A	A	90320197	G	A	90320197	2	1	87	1	0	0	0	0	0	0	0	1	9521	1190	42	3		3	MESP2	15	90320197	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	157173	90320197	12211195	1452	24576											
SEMA4B	10519	genome.wustl.edu	37	chr15	90771824	90771824	+	IGR	DEL	C	C	-																															gtggaggtatccccagtgtgCccccggccccgggtccgcct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:90771824delC	ENST00000328649.6	-	0	1247				SEMA4B_ENST00000332496.6_Frame_Shift_Del_p.C821fs|SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000411539.2_Frame_Shift_Del_p.C821fs	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)	p.C821fs*>1(1)		lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCCAGTGTGCCCCCGGCCCC	0.632																																																	1	Deletion - Frameshift(1)	breast(1)											32	38	36					15																	90771824		2074	4189	6263	SO:0001628	intergenic_variant	0			U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"EF-hand domain containing"	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808		15.37:g.90771824delC			B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Frame_Shift_Del	DEL	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.R823fs	ENST00000328649.6	37	c.2463	CCDS10360.1	15																																																																																			SEMA4B	-	NULL	ENSG00000185033		0.632	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000313419.1		0	57	0	C			90771824	1	tier1		no_errors	ENST00000332496	ensembl	human	known	74_37	frame_shift_del	29.17	51	21	DEL	1.000	-	-	90771824	C	-	90771824	6	5	87	0	1	1	0	1	0	0	0	0	14077	747	26	0		0	SEMA4B	15	90771824	IGR	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	451627	90771824	11759568	1453	24577											
MAN2A2	4122	genome.wustl.edu	37	chr15	91453730	91453730	+	Splice_Site	DEL	G	G	-																															ctaacttctctctctgggcaGgggggcagaggttctgtaca																								rs370140855		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr15:91453730delG	ENST00000559717.1	+	11	2036		c.e11-1		MAN2A2_ENST00000431652.2_Splice_Site|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Splice_Site			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2						cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTCTGGGCAGGGGGGCAGAG	0.637																																																	0													34	34	34					15																	91453730		2197	4297	6494	SO:0001630	splice_region_variant	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1578-1G>-	15.37:g.91453730delG			A6NH12|A8K1E8|Q13754	Splice_Site	DEL	-	e10-1	ENST00000559717.1	37	c.1578-1	CCDS32332.1	15																																																																																			MAN2A2	-	-	ENSG00000196547		0.637	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5		0	76	0	G	NM_006122	Intron	91453730	1	tier1		no_errors	ENST00000360468	ensembl	human	known	74_37	splice_site_del	10.42	86	10	DEL	1.000	-	-	91453730	G	-	91453730	8	5	87	1	0	1	0	1	0	0	1	0	9253	1014	35	0	1615	0	MAN2A2	15	91453730	Splice_Site	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	681906	91453730	11077662	1454	24578											
AXIN1	8312	genome.wustl.edu	37	chr16	348180	348180	+	Frame_Shift_Del	DEL	G	G	-																															ggcgggaagtggtgccaagcGggggcgggaggcagcttgtg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:348180delG	ENST00000262320.3	-	6	1697	c.1326delC	c.(1324-1326)cccfs	p.P442fs	AXIN1_ENST00000354866.3_Frame_Shift_Del_p.P442fs|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	442	Interaction with CTNNB1. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGTGCCAAGCGGGGGCGGGAG	0.667											OREG0003699	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001589	frameshift_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1326delC	16.37:g.348180delG	ENSP00000262320:p.Pro442fs	587	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Del	DEL	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A443fs	ENST00000262320.3	37	c.1326	CCDS10405.1	16																																																																																			AXIN1	-	NULL	ENSG00000103126		0.667	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3		0	97	0	G			348180	-1	tier1		no_errors	ENST00000262320	ensembl	human	known	74_37	frame_shift_del	21.79	61	17	DEL	0.000	-	-	348180	G	-	348180	7	5	87	1	0	1	0	1	0	0	0	0	1237	1103	39	0	1286	0	AXIN1	16	348180	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09		348180	90006573	1455	24579											
AXIN1	8312	genome.wustl.edu	37	chr16	360055	360055	+	Frame_Shift_Del	DEL	G	G	-																															gctgcttacggatcctgtatGgggggatcccatccctgtcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:360055delG	ENST00000262320.3	-	4	1405	c.1034delC	c.(1033-1035)ccafs	p.P345fs	AXIN1_ENST00000354866.3_Frame_Shift_Del_p.P345fs|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	345			P -> L (in HCC). {ECO:0000269|PubMed:12101426}.		activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.P345L(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GATCCTGTATGGGGGGATCCC	0.627																																																	1	Substitution - Missense(1)	liver(1)											66	44	51					16																	360055		2202	4300	6502	SO:0001589	frameshift_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1034delC	16.37:g.360055delG	ENSP00000262320:p.Pro345fs		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Del	DEL	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.P345fs	ENST00000262320.3	37	c.1034	CCDS10405.1	16																																																																																			AXIN1	-	NULL	ENSG00000103126		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3		0	13	0	G			360055	-1	tier1		no_errors	ENST00000262320	ensembl	human	known	74_37	frame_shift_del	21.05	15	4	DEL	1.000	-	-	360055	G	-	360055	7	5	87	1	0	1	0	1	0	0	0	0	1237	1348	47	0	1586	0	AXIN1	16	360055	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	11875	360055	89994698	1456	24580											
MSLNL	401827	genome.wustl.edu	37	chr16	830602	830602	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggatgcgtgcaggcaCgcatgtgtaggtgacagtgt	8	10	16	7	2	0	1	0	1	0	0	0	2	0	2	0	3	2	4	0	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:830602C>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Silent_p.A133A			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGTGCAGGCACGCATGTGTAG	0.557																																																	0													305	261	276					16																	830602		2181	4268	6449	SO:0001627	intron_variant	0					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 37"	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-440G>A	16.37:g.830602C>T				Silent	SNP	pfam_Mesothelin	p.A133	ENST00000442466.1	37	c.399		16																																																																																			MSLNL	-	NULL	ENSG00000162006		0.557	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	MSLNL	HGNC	protein_coding		-	0	80	0	C	NM_001025190		830602	-1	tier1	-	no_errors	ENST00000293892	ensembl	human	known	74_37	silent	17.95	64	14	SNP	0.000	T	T	830602	C	T	830602	1	4	87	0	1	0	0	0	0	0	0	0	9920	523	19	1		1	MSLNL	16	830602	Intron	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	470547	830602	89524151	1457	24581											
CACNA1H	8912	genome.wustl.edu	37	chr16	1254304	1254304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggcgggcacagcagaGggcagccccgggcgagccag	8	0	18	15	4	0	1	0	0	0	1	0	2	0	1	4	4	4	3	4	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1254304G>A	ENST00000348261.5	+	10	2545	c.2297G>A	c.(2296-2298)aGg>aAg	p.R766K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R766K|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R766K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	766					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCACAGCAGAGGGCAGCCCCG	0.721																																																	0													10	13	12					16																	1254304		1981	4128	6109	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2297G>A	16.37:g.1254304G>A	ENSP00000334198:p.Arg766Lys		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R766K	ENST00000348261.5	37	c.2297	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.557947	0.00910	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96168	-3.93;-3.88	3.95	-5.91	0.02269	.	82.394300	0.00481	U	0.000139	D	0.89508	0.6735	L	0.28458	0.855	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.82472	-0.0440	10	0.12103	T	0.63	.	7.6293	0.28230	0.7208:0.0:0.1594:0.1198	.	766;766	O95180-2;O95180	.;CAC1H_HUMAN	K	766	ENSP00000334198:R766K;ENSP00000351401:R766K	ENSP00000334198:R766K	R	+	2	0	CACNA1H	1194305	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.440000	0.06888	-1.270000	0.02433	-0.656000	0.03901	AGG	CACNA1H	-	NULL	ENSG00000196557		0.721	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	47	0	G	NM_001005407		1254304	1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	missense	12.24	43	6	SNP	0.000	A	A	1254304	G	A	1254304	3	1	87	1	0	0	0	0	1	0	0	0	2552	1000	35	3	2331	3	CACNA1H	16	1254304	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	423702	1254304	89100449	1458	24582											
CACNA1H	8912	genome.wustl.edu	37	chr16	1259364	1259364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgacttcttcctgcgcatCgacagccaccgtgaggatgc	8	8	11	14	4	1	1	0	1	1	0	3	4	2	2	3	1	4	1	3	1	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1259364C>T	ENST00000348261.5	+	17	3944	c.3696C>T	c.(3694-3696)atC>atT	p.I1232I	CACNA1H_ENST00000565831.1_Silent_p.I1232I|RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Silent_p.I1232I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1232					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TCCTGCGCATCGACAGCCACC	0.716																																																	0													25	28	27					16																	1259364		2092	4162	6254	SO:0001819	synonymous_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3696C>T	16.37:g.1259364C>T			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.I1232	ENST00000348261.5	37	c.3696	CCDS45375.1	16																																																																																			CACNA1H	-	NULL	ENSG00000196557		0.716	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	-	0	59	0	C	NM_001005407		1259364	1	tier1	-	no_errors	ENST00000348261	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.977	T	T	1259364	C	T	1259364	2	4	87	1	0	0	0	0	0	0	0	1	2552	874	31	1		1	CACNA1H	16	1259364	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5060	1259364	89095389	1459	24583											
TPSD1	23430	genome.wustl.edu	37	chr16	1306980	1306980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccagccacatccacaCggtcacgctgccccctgcct	7	7	6	21	2	2	0	1	0	1	0	4	0	3	0	6	1	3	1	6	1	0	0	rs144003164		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1306980C>T	ENST00000211076.3	+	3	585	c.437C>T	c.(436-438)aCg>aTg	p.T146M	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.T139M	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CACATCCACACGGTCACGCTG	0.642																																																	0								C	MET/THR	1,4395	2.1+/-5.4	0,1,2197	48	46	47		437	0	0	16	dbSNP_134	47	1,8597	1.2+/-3.3	0,1,4298	no	missense	TPSD1	NM_012217.2	81	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	146/243	1306980	2,12992	2198	4299	6497	SO:0001583	missense	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.437C>T	16.37:g.1306980C>T	ENSP00000211076:p.Thr146Met		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.T146M	ENST00000211076.3	37	c.437	CCDS10432.1	16	.	.	.	.	.	.	.	.	.	.	c	9.412	1.080898	0.20309	2.27E-4	1.16E-4	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.81821	-1.54;-1.54	2.55	0.0132	0.14094	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.114660	0.06915	N	0.808344	T	0.80226	0.4584	L	0.41961	1.31	0.18873	N	0.999987	D;D	0.56968	0.978;0.977	P;P	0.54140	0.743;0.585	T	0.66972	-0.5788	10	0.72032	D	0.01	.	6.2442	0.20807	0.0:0.6839:0.0:0.3161	.	130;146	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	M	139;146	ENSP00000380668:T139M;ENSP00000211076:T146M	ENSP00000211076:T146M	T	+	2	0	TPSD1	1246981	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	0.640000	0.24705	-0.083000	0.12618	0.185000	0.17295	ACG	TPSD1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000095917		0.642	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSD1	HGNC	protein_coding	OTTHUMT00000250320.2	-	0	65	0	C			1306980	1	tier1	rs144003164	no_errors	ENST00000211076	ensembl	human	known	74_37	missense	22.78	61	18	SNP	0.514	T	T	1306980	C	T	1306980	3	4	87	1	0	0	0	0	1	0	0	0	16473	536	19	1	447	1	TPSD1	16	1306980	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	47616	1306980	89047773	1460	24584											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1797089	1797089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgccacacccagcacCacaggcaccaagtccaacac	12	1	8	20	2	0	0	0	0	0	0	1	0	1	0	6	2	2	2	6	2	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1797089C>T	ENST00000250894.4	+	6	961	c.804C>T	c.(802-804)acC>acT	p.T268T	MAPK8IP3_ENST00000356010.5_Silent_p.T268T|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	268					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CACCCAGCACCACAGGCACCA	0.652																																																	0													57	83	74					16																	1797089		2166	4273	6439	SO:0001819	synonymous_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.804C>T	16.37:g.1797089C>T			A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.T268	ENST00000250894.4	37	c.804	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL	ENSG00000138834		0.652	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0	163	0	C	NM_001040439		1797089	1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	silent	7.91	128	11	SNP	1.000	T	T	1797089	C	T	1797089	2	4	87	1	0	0	0	0	0	0	0	1	9324	581	21	3		3	MAPK8IP3	16	1797089	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	490109	1797089	88557664	1461	24585											
IGFALS	3483	genome.wustl.edu	37	chr16	1840901	1840901	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctgaggtagcgcagccgCcccagtggtgccaagaggct	8	5	16	12	2	0	2	0	1	0	1	0	2	0	2	4	4	3	4	4	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1840901C>G	ENST00000215539.3	-	2	1628	c.1518G>C	c.(1516-1518)ggG>ggC	p.G506G	IGFALS_ENST00000415638.3_Silent_p.G544G			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	506					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGCGCAGCCGCCCCAGTGGTG	0.701																																																	0													11	11	11					16																	1840901		2151	4274	6425	SO:0001819	synonymous_variant	0			M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1518G>C	16.37:g.1840901C>G			B4DZY8|E9PGU3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G544	ENST00000215539.3	37	c.1632	CCDS10446.1	16																																																																																			IGFALS	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000099769		0.701	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFALS	HGNC	protein_coding	OTTHUMT00000250509.2	-	0	145	0	C			1840901	-1	tier1	-	no_errors	ENST00000415638	ensembl	human	known	74_37	silent	17.32	105	22	SNP	0.026	G	G	1840901	C	G	1840901	2	3	87	1	0	0	0	0	0	0	0	1	7604	726	26	5		5	IGFALS	16	1840901	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	43812	1840901	88513852	1462	24586											
C16orf73	254528	genome.wustl.edu	37	chr16	1918176	1918176	+	Start_Codon_Del	DEL	T	T	-																															cgctgcaaaggagtttgccaTttttttaatctgcattttag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:1918176delT	ENST00000397344.3	-	0	195				MEIOB_ENST00000452149.2_Start_Codon_Del|MEIOB_ENST00000470044.1_Intron|MEIOB_ENST00000325962.3_Start_Codon_Del|MEIOB_ENST00000412554.2_Start_Codon_Del	NM_152764.2	NP_689977.2	Q8N635	MEIOB_HUMAN	meiosis specific with OB domains						double-strand break repair via homologous recombination (GO:0000724)|female meiosis I (GO:0007144)|fertilization (GO:0009566)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|resolution of meiotic recombination intermediates (GO:0000712)|synapsis (GO:0007129)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA binding (GO:0003697)										GAGTTTGCCATTTTTTTAATC	0.279																																																	0													99	79	85					16																	1918176		692	1591	2283	SO:0001582	initiator_codon_variant	0			BC029829	CCDS10449.2, CCDS53983.1	16p13.3	2012-08-13	2012-08-13	2012-08-13	ENSG00000162039	ENSG00000162039			28569	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 73"	C16orf73		12477932	Standard	NM_152764		Approved	MGC35212	uc010uvq.1	Q8N635	OTTHUMG00000128683		16.37:g.1918176delT			B1AK39|C9J0S1|Q96RY0	Frame_Shift_Del	DEL	superfamily_NA-bd_OB-fold	p.M1fs	ENST00000397344.3	37	c.1	CCDS10449.2	16																																																																																			MEIOB	-	NULL	ENSG00000162039		0.279	MEIOB-001	KNOWN	basic|CCDS	protein_coding	MEIOB	HGNC	protein_coding	OTTHUMT00000250580.1		0	63	0	T	NM_152764		1918176	-1	tier1		no_errors	ENST00000325962	ensembl	human	known	74_37	frame_shift_del	25.32	59	20	DEL	1.000	-	-	1918176	T	-	1918176	7	5	87	1	0	1	0	1	0	0	0	0	1837	1493	52	0	1466	0	C16orf73	16	1918176	Start_Codon_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	77275	1918176	88436577	1463	24587											
NPW	283869	genome.wustl.edu	37	chr16	2070538	2070538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgttctcgttagagacTtcggagagacgtctcccgcc	6	11	12	12	4	2	2	0	0	2	2	5	5	2	3	2	1	0	3	2	1	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2070538T>C	ENST00000566435.1	+	2	773	c.260T>C	c.(259-261)cTt>cCt	p.L87P	NPW_ENST00000329610.4_Missense_Mutation_p.L139P			Q8N729	NPW_HUMAN	neuropeptide W	139					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				kidney(1)	1						CGTTAGAGACTTCGGAGAGAC	0.706																																																	0													16	22	20					16																	2070538		1940	4122	6062	SO:0001583	missense	0			AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"Endogenous ligands"	30509	protein-coding gene	gene with protein product	"prepro-neuropeptide W"	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.260T>C	16.37:g.2070538T>C	ENSP00000456974:p.Leu87Pro			Missense_Mutation	SNP	prints_Neuropept_W_pre,prints_Neuropept_BW_pre	p.L139P	ENST00000566435.1	37	c.416		16	.	.	.	.	.	.	.	.	.	.	t	13.43	2.236007	0.39498	.	.	ENSG00000183971	ENST00000329610	T	0.56275	0.47	2.35	1.24	0.21308	.	0.582632	0.15801	N	0.243924	T	0.27731	0.0682	N	0.08118	0	0.38082	D	0.936698	B	0.27013	0.166	B	0.27796	0.083	T	0.11275	-1.0594	10	0.87932	D	0	.	4.06	0.09834	0.0:0.1789:0.0:0.8211	.	139	Q8N729	NPW_HUMAN	P	139	ENSP00000330070:L139P	ENSP00000330070:L139P	L	+	2	0	NPW	2010539	0.090000	0.21635	0.194000	0.23346	0.015000	0.08874	0.610000	0.24253	0.344000	0.23847	0.334000	0.21626	CTT	NPW	-	NULL	ENSG00000183971		0.706	NPW-001	KNOWN	basic|appris_principal	protein_coding	NPW	HGNC	protein_coding	OTTHUMT00000434312.1	-	0	25	0	T	NM_001099456		2070538	1	tier1	-	no_errors	ENST00000329610	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.693	C	C	2070538	T	C	2070538	3	2	87	1	0	0	0	0	1	0	0	0	10645	1609	56	4	422	4	NPW	16	2070538	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	152362	2070538	88284215	1464	24588											
NTHL1	7249	genome.wustl.edu	37	chr16	2096132	2096133	+	5'Flank	INS	-	-	G																															tggggcccctgcctacctttINSgggggggcactggagtcata																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2096132_2096133insG	ENST00000219476.3	+	0	0				TSC2_ENST00000382538.6_5'Flank|NTHL1_ENST00000219066.1_Frame_Shift_Ins_p.P125fs|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000353929.4_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000439673.2_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCCTACCTTTGGGGGGGCACT	0.579			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0																																										SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096139_2096139dupG	Exception_encountered		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Frame_Shift_Ins	INS	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.V127fs	ENST00000219476.3	37	c.375_374	CCDS10458.1	16																																																																																			NTHL1	-	superfamily_DNA_glycosylase	ENSG00000065057		0.579	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250657.2		0	53	0	-	NM_000548		2096133	-1	tier1		no_errors	ENST00000219066	ensembl	human	known	74_37	frame_shift_ins	15.79	32	6	INS	0.794:1.000	G	G	2096133	-	G	2096132	6	5	87	0	1	1	1	0	0	0	0	0	10737	1799	63	0		0	NTHL1	16	2096132	5'Flank	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	25594	2096132	88258621	1465	24589											
NTHL1	7249	genome.wustl.edu	37	chr16	2096239	2096239	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgttgctgccagtcctGgggctcccagactggcacct	5	9	12	15	0	0	1	0	0	0	1	2	1	2	1	4	3	3	5	4	3	0	1	rs150766139	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2096239G>T	ENST00000219476.3	+	0	0				TSC2_ENST00000382538.6_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.Q90K|TSC2_ENST00000350773.4_5'Flank|TSC2_ENST00000568454.1_5'Flank|TSC2_ENST00000353929.4_5'Flank|NTHL1_ENST00000562951.1_5'Flank|TSC2_ENST00000401874.2_5'Flank|TSC2_ENST00000439673.2_5'Flank	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCCAGTCCTGGGGCTCCCAG	0.602			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													102	95	97					16																	2096239		2198	4300	6498	SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2096239G>T	Exception_encountered		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.Q90K	ENST00000219476.3	37	c.268	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	8.358	0.832437	0.16820	.	.	ENSG00000065057	ENST00000219066	T	0.12984	2.63	4.83	4.83	0.62350	.	0.633028	0.16494	N	0.211949	T	0.06325	0.0163	N	0.11023	0.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37888	-0.9686	10	0.07990	T	0.79	-4.825	8.5101	0.33213	0.0:0.1654:0.6639:0.1707	.	90;90	E5KTI5;P78549	.;NTHL1_HUMAN	K	90	ENSP00000219066:Q90K	ENSP00000219066:Q90K	Q	-	1	0	NTHL1	2036240	0.000000	0.05858	0.349000	0.25694	0.734000	0.41952	0.689000	0.25437	2.230000	0.72887	0.561000	0.74099	CAG	NTHL1	-	NULL	ENSG00000065057		0.602	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	44	0	G	NM_000548		2096239	-1	tier1	-	no_errors	ENST00000219066	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.043	T	T	2096239	G	T	2096239	1	4	87	0	1	0	0	0	0	0	0	0	10737	1357	47	3		3	NTHL1	16	2096239	5'Flank	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	107	2096239	88258514	1466	24590											
PKD1	5310	genome.wustl.edu	37	chr16	2139829	2139829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcccgggcaaggcggctggGcagtgctggccgcaggcccg	4	3	20	14	4	0	0	0	0	0	0	0	0	0	0	3	7	1	5	3	7	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2139829G>A	ENST00000262304.4	-	46	13019	c.12811C>T	c.(12811-12813)Ccc>Tcc	p.P4271S	RP11-304L19.1_ENST00000570072.1_RNA|MIR1225_ENST00000408729.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.P4270S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4271					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGCGGCTGGGCAGTGCTGGC	0.721																																																	0													7	9	9					16																	2139829		2123	4176	6299	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12811C>T	16.37:g.2139829G>A	ENSP00000262304:p.Pro4271Ser		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.P4271S	ENST00000262304.4	37	c.12811	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977494	0.53720	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.34275	1.37;1.37	4.51	2.44	0.29823	.	0.368012	0.24750	N	0.035901	T	0.37999	0.1024	L	0.59436	1.845	0.09310	N	1	B;P	0.49783	0.019;0.928	B;P	0.47603	0.005;0.551	T	0.18366	-1.0339	10	0.49607	T	0.09	.	8.6993	0.34316	0.0:0.3095:0.5309:0.1595	.	4270;4271	P98161-3;P98161	.;PKD1_HUMAN	S	4271;4270;3605	ENSP00000262304:P4271S;ENSP00000399501:P4270S	ENSP00000262304:P4271S	P	-	1	0	PKD1	2079830	0.996000	0.38824	0.070000	0.20053	0.071000	0.16799	2.765000	0.47621	0.300000	0.22699	0.491000	0.48974	CCC	PKD1	-	NULL	ENSG00000008710		0.721	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1		0	35	0	G			2139829	-1			no_errors	ENST00000262304	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.083	A	A	2139829	G	A	2139829	3	1	87	1	0	0	0	0	1	0	0	0	12002	1203	42	3	104	3	PKD1	16	2139829	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	43590	2139829	88214924	1467	24591											
ABCA3	21	genome.wustl.edu	37	chr16	2374411	2374411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcacgtctcaccgccagCggcaggggctccttgctgtg	4	7	14	16	4	1	0	1	0	1	0	3	0	2	0	4	3	2	4	4	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2374411C>T	ENST00000301732.5	-	6	1141	c.441G>A	c.(439-441)ccG>ccA	p.P147P	ABCA3_ENST00000567910.1_Silent_p.P147P|ABCA3_ENST00000382381.3_Silent_p.P147P	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	147					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TCACCGCCAGCGGCAGGGGCT	0.617																																																	0													19	18	19					16																	2374411		2193	4292	6485	SO:0001819	synonymous_variant	0			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"ATP binding cassette transporters / subfamily A"	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.441G>A	16.37:g.2374411C>T			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P147	ENST00000301732.5	37	c.441	CCDS10466.1	16																																																																																			ABCA3	-	NULL	ENSG00000167972		0.617	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	-	0	29	0	C	NM_001089		2374411	-1	tier1	-	no_errors	ENST00000301732	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.612	T	T	2374411	C	T	2374411	2	4	87	1	0	0	0	0	0	0	0	1	33	755	27	1		1	ABCA3	16	2374411	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	234582	2374411	87980342	1468	24592											
CCNF	899	genome.wustl.edu	37	chr16	2487250	2487250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcttcatccgccctcCgtggtcggtgagcggaagct	4	10	13	14	4	2	1	1	1	1	0	5	2	4	2	3	4	2	2	3	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2487250C>T	ENST00000397066.4	+	5	555	c.467C>T	c.(466-468)cCg>cTg	p.P156L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	156					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ATCCGCCCTCCGTGGTCGGTG	0.637																																																	0													55	49	51					16																	2487250		2198	4300	6498	SO:0001583	missense	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"F-boxes /  "other""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.467C>T	16.37:g.2487250C>T	ENSP00000380256:p.Pro156Leu		B2R8H3|Q96EG9	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.P156L	ENST00000397066.4	37	c.467	CCDS10467.1	16	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604414	0.87157	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.66638	-0.22	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84417	0.0569	10	0.87932	D	0	-39.6034	18.374	0.90430	0.0:1.0:0.0:0.0	.	156	P41002	CCNF_HUMAN	L	156;71	ENSP00000380256:P156L	ENSP00000293968:P71L	P	+	2	0	CCNF	2427251	1.000000	0.71417	0.433000	0.26760	0.465000	0.32709	7.603000	0.82811	2.689000	0.91719	0.655000	0.94253	CCG	CCNF	-	NULL	ENSG00000162063		0.637	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	-	0	36	0	C	NM_001761		2487250	1	tier1	-	no_errors	ENST00000397066	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	T	T	2487250	C	T	2487250	3	4	87	1	0	0	0	0	1	0	0	0	2929	652	23	1	485	1	CCNF	16	2487250	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	112839	2487250	87867503	1469	24593											
PRSS22	64063	genome.wustl.edu	37	chr16	2903146	2903146	+	Frame_Shift_Del	DEL	C	C	-																															tcggtgccctgagggccccaCccccctgagcgcgcccgcgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:2903146delC	ENST00000161006.3	-	6	967	c.902delG	c.(901-903)ggtfs	p.G302fs	PRSS22_ENST00000571228.1_Frame_Shift_Del_p.G192fs|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	302						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGGGCCCCACCCCCCTGAGC	0.726																																																	0													11	14	13					16																	2903146		2146	4210	6356	SO:0001589	frameshift_variant	0			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"Serine peptidases / Serine peptidases"	14368	protein-coding gene	gene with protein product	"brain-specific serine protease 4"	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.902delG	16.37:g.2903146delC	ENSP00000161006:p.Gly302fs		O43342|Q6UXE0	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G301fs	ENST00000161006.3	37	c.902	CCDS10481.1	16																																																																																			PRSS22	-	NULL	ENSG00000005001		0.726	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS22	HGNC	protein_coding	OTTHUMT00000250943.1		0	10	0	C	NM_022119		2903146	-1	tier1		no_errors	ENST00000161006	ensembl	human	known	74_37	frame_shift_del	40.00	6	4	DEL	0.010	-	-	2903146	C	-	2903146	7	5	87	1	0	1	0	1	0	0	0	0	12661	507	18	0	55	0	PRSS22	16	2903146	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	415896	2903146	87451607	1470	24594											
CLDN6	9074	genome.wustl.edu	37	chr16	3065455	3065456	+	Frame_Shift_Ins	INS	-	-	CC																															taatggctggggccctgggaINScccccccgaggggcaagtgc																								rs536531302		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3065455_3065456insCC	ENST00000396925.1	-	3	995_996	c.567_568insGG	c.(565-570)gggtccfs	p.S190fs	CLDN6_ENST00000328796.4_Frame_Shift_Ins_p.S190fs|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	190					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGCCCTGGGACCCCCCCGAGG	0.644																																																	0																																										SO:0001589	frameshift_variant	0			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"Claudins"	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.566_567dupGG	16.37:g.3065460_3065461dupCC	ENSP00000380131:p.Ser190fs		B3KQP9|D3DUA5	Frame_Shift_Ins	INS	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6	p.S189fs	ENST00000396925.1	37	c.568_567	CCDS10488.1	16																																																																																			CLDN6	-	prints_Claudin6	ENSG00000184697		0.644	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1		0	106	0	0	NM_021195		3065456	-1			no_errors	ENST00000328796	ensembl	human	known	74_37	frame_shift_ins	9.57	85	9	INS	0.016:0.007	CC	CC	3065456	-	CC	3065455	7	5	87	1	0	1	1	0	0	0	0	0	3496	275	10	0	98	0	CLDN6	16	3065455	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	162309	3065455	87289298	1471	24595											
TNFRSF12A	51330	genome.wustl.edu	37	chr16	3071775	3071775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcttatcttgcagcccCcatagaggagaccggcggag	9	7	11	14	2	2	2	0	0	2	2	2	4	2	3	4	3	2	1	4	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3071775C>T	ENST00000326577.4	+	4	424	c.338C>T	c.(337-339)cCc>cTc	p.P113L	THOC6_ENST00000253952.9_5'Flank|TNFRSF12A_ENST00000575124.1_Silent_p.P167P|THOC6_ENST00000575576.1_5'Flank|TNFRSF12A_ENST00000573001.1_Missense_Mutation_p.P64L|TNFRSF12A_ENST00000341627.5_Missense_Mutation_p.P78L|THOC6_ENST00000574549.1_5'Flank|THOC6_ENST00000326266.8_5'Flank|CLDN6_ENST00000396925.1_5'Flank	NM_016639.2	NP_057723.1	Q9NP84	TNR12_HUMAN	tumor necrosis factor receptor superfamily, member 12A	113					angiogenesis (GO:0001525)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of angiogenesis (GO:0045765)|regulation of wound healing (GO:0061041)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				lung(1)|skin(1)	2						CTTGCAGCCCCCATAGAGGAG	0.607											OREG0023566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62	62	62					16																	3071775		2198	4300	6498	SO:0001583	missense	0			AB035480	CCDS10489.1	16p13.3	2008-02-05			ENSG00000006327	ENSG00000006327		"Tumor necrosis factor receptor superfamily", "CD molecules"	18152	protein-coding gene	gene with protein product		605914				10751351, 10551889	Standard	NM_016639		Approved	FN14, TweakR, CD266	uc002csv.4	Q9NP84	OTTHUMG00000129001	ENST00000326577.4:c.338C>T	16.37:g.3071775C>T	ENSP00000326737:p.Pro113Leu	608	D3DUA6|Q9HCS0	Missense_Mutation	SNP	pfam_TNFR_12,prints_TNFR_12	p.P113L	ENST00000326577.4	37	c.338	CCDS10489.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269397	0.80469	.	.	ENSG00000006327	ENST00000326577;ENST00000341627	.	.	.	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000005	T	0.65238	0.2672	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68315	-0.5441	9	0.87932	D	0	-8.5671	12.7699	0.57415	0.0:1.0:0.0:0.0	.	78;113	Q9NP84-2;Q9NP84	.;TNR12_HUMAN	L	113;78	.	ENSP00000326737:P113L	P	+	2	0	TNFRSF12A	3011776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.468000	0.60162	2.375000	0.81037	0.561000	0.74099	CCC	TNFRSF12A	-	pfam_TNFR_12,prints_TNFR_12	ENSG00000006327		0.607	TNFRSF12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF12A	HGNC	protein_coding	OTTHUMT00000250990.1	-	0	62	0	C			3071775	1	tier1	-	no_errors	ENST00000326577	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	T	T	3071775	C	T	3071775	3	4	87	1	0	0	0	0	1	0	0	0	16333	623	22	3	352	3	TNFRSF12A	16	3071775	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6320	3071775	87282978	1472	24596											
MEFV	4210	genome.wustl.edu	37	chr16	3304660	3304660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaggctggcagctccgccCccgtacggccgagggccgtt	4	5	15	17	6	0	0	0	0	0	0	1	1	1	0	5	4	2	6	5	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3304660C>T	ENST00000219596.1	-	2	447	c.408G>A	c.(406-408)ggG>ggA	p.G136G	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	136					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAGCTCCGCCCCCGTACGGCC	0.706																																																	0													15	17	16					16																	3304660		2167	4231	6398	SO:0001819	synonymous_variant	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.408G>A	16.37:g.3304660C>T			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.G136	ENST00000219596.1	37	c.408	CCDS10498.1	16																																																																																			MEFV	-	NULL	ENSG00000103313		0.706	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	-	0	41	0	C	NM_000243		3304660	-1	tier1	-	no_errors	ENST00000219596	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.000	T	T	3304660	C	T	3304660	2	4	87	1	0	0	0	0	0	0	0	1	9497	610	22	3		3	MEFV	16	3304660	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	232885	3304660	87050093	1473	24597											
CREBBP	1387	genome.wustl.edu	37	chr16	3843431	3843431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcgtcatgtgattcaaaAcgtttttcatggttcgacaa	12	14	8	7	3	3	1	3	1	0	0	4	2	3	1	0	1	2	2	0	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3843431A>G	ENST00000262367.5	-	4	1981	c.1172T>C	c.(1171-1173)gTt>gCt	p.V391A	CREBBP_ENST00000382070.3_Missense_Mutation_p.V391A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	391	Interaction with SRCAP.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGATTCAAAACGTTTTTCAT	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													149	136	140					16																	3843431		2197	4300	6497	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.1172T>C	16.37:g.3843431A>G	ENSP00000262367:p.Val391Ala		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V391A	ENST00000262367.5	37	c.1172	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	A	21.7	4.188300	0.78789	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84589	-1.87;-1.87	5.91	5.91	0.95273	Zinc finger, TAZ-type (5);	0.191451	0.35555	N	0.003122	D	0.94172	0.8130	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.95064	0.8198	10	0.59425	D	0.04	-16.2522	16.3483	0.83171	1.0:0.0:0.0:0.0	.	459;391	Q4LE28;Q92793	.;CBP_HUMAN	A	391;459;391	ENSP00000262367:V391A;ENSP00000371502:V391A	ENSP00000262367:V391A	V	-	2	0	CREBBP	3783432	1.000000	0.71417	0.917000	0.36280	0.996000	0.88848	9.287000	0.95975	2.254000	0.74563	0.533000	0.62120	GTT	CREBBP	-	pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ	ENSG00000005339		0.488	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0	51	0	A	NM_004380		3843431	-1			no_errors	ENST00000262367	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	G	G	3843431	A	G	3843431	3	3	87	1	0	0	0	0	1	0	0	0	3868	43	2	4	6268	4	CREBBP	16	3843431	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	538771	3843431	86511322	1474	24598											
CREBBP	1387	genome.wustl.edu	37	chr16	3900661	3900661	+	Frame_Shift_Del	DEL	G	G	-																															ttcagtgcttgggaggcagcGggggtgggcccagaggtgct																								rs201435679		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:3900661delG	ENST00000262367.5	-	2	1244	c.435delC	c.(433-435)cccfs	p.P145fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P145fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	145					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGGAGGCAGCGGGGGTGGGCC	0.622			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													46	51	49					16																	3900661		2197	4299	6496	SO:0001589	frameshift_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.435delC	16.37:g.3900661delG	ENSP00000262367:p.Pro145fs		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Del	DEL	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A146fs	ENST00000262367.5	37	c.435	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0	85	0	G	NM_004380		3900661	-1	tier1		no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_del	9.76	74	8	DEL	0.961	-	-	3900661	G	-	3900661	7	5	87	1	0	1	0	1	0	0	0	0	3868	1103	39	0	7013	0	CREBBP	16	3900661	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	57230	3900661	86454092	1475	24599											
ADCY9	115	genome.wustl.edu	37	chr16	4029160	4029160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgacatgggagtagacgGccagtgcgggaagcgacacc	11	4	17	9	3	0	2	0	1	0	1	0	5	0	4	2	4	2	1	2	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4029160G>T	ENST00000294016.3	-	8	3174	c.2636C>A	c.(2635-2637)gCc>gAc	p.A879D		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	879					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGAGTAGACGGCCAGTGCGGG	0.577																																																	0													130	125	126					16																	4029160		2197	4300	6497	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"Adenylate cyclases"	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2636C>A	16.37:g.4029160G>T	ENSP00000294016:p.Ala879Asp		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A879D	ENST00000294016.3	37	c.2636	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693929	0.48202	.	.	ENSG00000162104	ENST00000294016	D	0.85088	-1.94	5.59	5.59	0.84812	.	0.110180	0.64402	D	0.000009	D	0.83170	0.5196	L	0.50333	1.59	0.46356	D	0.999009	P	0.50272	0.933	P	0.44860	0.462	D	0.84932	0.0860	10	0.66056	D	0.02	.	12.8792	0.58008	0.0743:0.0:0.9257:0.0	.	879	O60503	ADCY9_HUMAN	D	879	ENSP00000294016:A879D	ENSP00000294016:A879D	A	-	2	0	ADCY9	3969161	0.992000	0.36948	0.130000	0.21974	0.013000	0.08279	6.426000	0.73374	2.617000	0.88574	0.655000	0.94253	GCC	ADCY9	-	NULL	ENSG00000162104		0.577	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0	61	0	G			4029160	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.934	T	T	4029160	G	T	4029160	3	4	87	1	0	0	0	0	1	0	0	0	301	1203	42	3	1441	3	ADCY9	16	4029160	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	128499	4029160	86325593	1476	24600											
GLIS2	84662	genome.wustl.edu	37	chr16	4387133	4387133	+	Frame_Shift_Del	DEL	G	G	-																															acggtgggggcagtgggggtGgggggggcatgggccctggg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4387133delG	ENST00000262366.3	+	8	2004	c.1183delG	c.(1183-1185)gggfs	p.G397fs	GLIS2_ENST00000433375.1_Frame_Shift_Del_p.G397fs|PAM16_ENST00000577031.1_Intron|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	397	Gly-rich.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CAGTGGGGGTGGGGGGGGCAT	0.726																																																	0													2	2	2					16																	4387133		1267	2863	4130	SO:0001589	frameshift_variant	0			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"Zinc fingers, C2H2-type"	29450	protein-coding gene	gene with protein product	"nephrocystin-7"	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.1183delG	16.37:g.4387133delG	ENSP00000262366:p.Gly397fs		B3KX84	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G397fs	ENST00000262366.3	37	c.1183	CCDS10511.1	16																																																																																			GLIS2	-	NULL	ENSG00000126603		0.726	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1		0	25	0	G	NM_032575		4387133	1	tier1		no_errors	ENST00000262366	ensembl	human	known	74_37	frame_shift_del	26.67	11	4	DEL	0.000	-	-	4387133	G	-	4387133	7	5	87	1	0	1	0	1	0	0	0	0	6472	1348	47	0	1205	0	GLIS2	16	4387133	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	357973	4387133	85967620	1477	24601											
ZNF500	26048	genome.wustl.edu	37	chr16	4812297	4812297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaggccgaaaggaagggcGaggctgacgccatctcctga	11	4	14	12	3	1	2	0	2	1	0	2	5	1	3	4	4	0	1	4	4	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4812297G>A	ENST00000219478.6	-	4	937	c.638C>T	c.(637-639)tCg>tTg	p.S213L	ZNF500_ENST00000545009.1_Missense_Mutation_p.S213L			O60304	ZN500_HUMAN	zinc finger protein 500	213					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						AAGGAAGGGCGAGGCTGACGC	0.637																																																	0													48	42	44					16																	4812297		2195	4297	6492	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.638C>T	16.37:g.4812297G>A	ENSP00000219478:p.Ser213Leu		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S213L	ENST00000219478.6	37	c.638	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495785	0.26774	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06849	3.33;3.25	4.18	-0.754	0.11065	.	.	.	.	.	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.45205	-0.9277	9	0.22706	T	0.39	.	0.8799	0.01232	0.2903:0.159:0.3879:0.1628	.	213;213	B4DNN9;O60304	.;ZN500_HUMAN	L	213	ENSP00000445714:S213L;ENSP00000219478:S213L	ENSP00000219478:S213L	S	-	2	0	ZNF500	4752298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.181000	0.09740	0.017000	0.15025	-0.150000	0.13652	TCG	ZNF500	-	NULL	ENSG00000103199		0.637	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	-	0	58	0	G	XM_085507		4812297	-1	tier1	-	no_errors	ENST00000219478	ensembl	human	known	74_37	missense	29.41	35	15	SNP	0.000	A	A	4812297	G	A	4812297	3	1	87	1	0	0	0	0	1	0	0	0	17996	1059	37	1	816	1	ZNF500	16	4812297	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	425164	4812297	85542456	1478	24602											
GLYR1	84656	genome.wustl.edu	37	chr16	4862229	4862229	+	Frame_Shift_Del	DEL	C	C	-																															acgggggcttccagaaagcgCccccccctggacacaatcac																								rs533332243		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4862229delC	ENST00000321919.9	-	13	1216	c.1140delG	c.(1138-1140)gggfs	p.G380fs	GLYR1_ENST00000381983.3_Frame_Shift_Del_p.G363fs|GLYR1_ENST00000591451.1_Frame_Shift_Del_p.G374fs|GLYR1_ENST00000436648.5_Frame_Shift_Del_p.G299fs	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	380					pentose-phosphate shunt (GO:0006098)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|NAD binding (GO:0051287)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R381fs*15(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCAGAAAGCGCCCCCCCCTGG	0.572																																																	1	Insertion - Frameshift(1)	large_intestine(1)											40	40	40					16																	4862229		2197	4300	6497	SO:0001589	frameshift_variant	0			AF244907	CCDS10524.1	16p13.3	2010-02-17			ENSG00000140632	ENSG00000140632			24434	protein-coding gene	gene with protein product	"nuclear protein 60kDa"	610660				16352664	Standard	NM_032569		Approved	BM045, HIBDL, NP60, N-PAC	uc002cxx.4	Q49A26	OTTHUMG00000129530	ENST00000321919.9:c.1140delG	16.37:g.4862229delC	ENSP00000322716:p.Gly380fs		B4DL47|C9JJ40|C9JJ60|Q5U632|Q6P1Q2|Q6V3W7|Q9BTI1|Q9BXK2	Frame_Shift_Del	DEL	pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom	p.R381fs	ENST00000321919.9	37	c.1140	CCDS10524.1	16																																																																																			GLYR1	-	pfam_6PGDH_NADP-bd	ENSG00000140632		0.572	GLYR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLYR1	HGNC	protein_coding	OTTHUMT00000251717.2		0	50	0	C	NM_032569		4862229	-1	tier1		no_errors	ENST00000321919	ensembl	human	known	74_37	frame_shift_del	29.55	31	13	DEL	0.170	-	-	4862229	C	-	4862229	7	5	87	1	0	1	0	1	0	0	0	0	6509	726	26	0	537	0	GLYR1	16	4862229	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	49932	4862229	85492524	1479	24603											
UBN1	29855	genome.wustl.edu	37	chr16	4924667	4924668	+	Frame_Shift_Ins	INS	-	-	A																															tggggcagtcctctcaggagINSaaaaaaccagagagttctgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:4924667_4924668insA	ENST00000396658.4	+	14	2959_2960	c.2256_2257insA	c.(2257-2259)aaafs	p.K753fs	UBN1_ENST00000545171.1_Frame_Shift_Ins_p.K753fs|UBN1_ENST00000262376.6_Frame_Shift_Ins_p.K753fs|UBN1_ENST00000590769.1_Frame_Shift_Ins_p.K753fs	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	753					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCTCTCAGGAGAAAAAACCAGA	0.545																																																	0																																										SO:0001589	frameshift_variant	0			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2262dupA	16.37:g.4924673_4924673dupA	ENSP00000379894:p.Lys753fs		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Frame_Shift_Ins	INS	NULL	p.P754fs	ENST00000396658.4	37	c.2256_2257	CCDS10525.1	16																																																																																			UBN1	-	NULL	ENSG00000118900		0.545	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBN1	HGNC	protein_coding	OTTHUMT00000251719.1		0	48	0	-	NM_016936		4924668	1	tier1		no_errors	ENST00000262376	ensembl	human	known	74_37	frame_shift_ins	29.41	36	15	INS	1.000:1.000	A	A	4924668	-	A	4924667	7	5	87	1	0	1	1	0	0	0	0	0	16941	933	33	0	2310	0	UBN1	16	4924667	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	62438	4924667	85430086	1480	24604											
C16orf68	79091	genome.wustl.edu	37	chr16	8729076	8729076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctgttccgacaggacCtcttccgaggatgtacagcg	9	9	10	13	3	1	0	0	0	1	0	4	4	4	2	4	2	2	2	4	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:8729076C>A	ENST00000381920.3	+	5	865	c.607C>A	c.(607-609)Ctc>Atc	p.L203I	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Missense_Mutation_p.L147I	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	203						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCGACAGGACCTCTTCCGAGG	0.627																																																	0													58	62	61					16																	8729076		2067	4218	6285	SO:0001583	missense	0			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"chromosome 16 open reading frame 68"	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.607C>A	16.37:g.8729076C>A	ENSP00000371345:p.Leu203Ile		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.L203I	ENST00000381920.3	37	c.607	CCDS10533.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.37|15.37	2.813006|2.813006	0.50527|0.50527	.|.	.|.	ENSG00000067365|ENSG00000067365	ENST00000381920|ENST00000163678	T|T	0.06449|0.52526	3.3|0.66	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.377452|.	0.24499|.	N|.	0.037991|.	T|T	0.51126|0.51126	0.1656|0.1656	L|L	0.45051|0.45051	1.395|1.395	0.29211|0.29211	N|N	0.874602|0.874602	P|.	0.40534|.	0.72|.	B|.	0.37304|.	0.246|.	T|T	0.53809|0.53809	-0.8386|-0.8386	10|7	0.25106|0.87932	T|D	0.35|0	-14.3986|-14.3986	12.8176|12.8176	0.57675|0.57675	0.164:0.836:0.0:0.0|0.164:0.836:0.0:0.0	.|.	203|.	Q9BUU2|.	MET22_HUMAN|.	I|H	203|189	ENSP00000371345:L203I|ENSP00000163678:P189H	ENSP00000371345:L203I|ENSP00000163678:P189H	L|P	+|+	1|2	0|0	METTL22|METTL22	8636577|8636577	0.028000|0.028000	0.19301|0.19301	1.000000|1.000000	0.80357|0.80357	0.347000|0.347000	0.29111|0.29111	0.061000|0.061000	0.14366|0.14366	2.324000|2.324000	0.78689|0.78689	0.655000|0.655000	0.94253|0.94253	CTC|CCT	METTL22	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000067365		0.627	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL22	HGNC	protein_coding	OTTHUMT00000251901.1	-	0	39	0	C	NM_024109		8729076	1	tier1	-	no_errors	ENST00000381920	ensembl	human	known	74_37	missense	19.44	29	7	SNP	1.000	A	A	8729076	C	A	8729076	3	1	87	1	0	0	0	0	1	0	0	0	1832	681	24	3	621	3	C16orf68	16	8729076	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3804409	8729076	81625677	1481	24605											
TMEM186	25880	genome.wustl.edu	37	chr16	8889941	8889941	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcacaaacatctcctgaggCcggtccttggtttctgtcag	7	11	10	13	2	3	1	1	1	2	0	5	1	4	1	3	3	1	2	3	3	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:8889941C>T	ENST00000333050.6	-	2	543	c.510G>A	c.(508-510)cgG>cgA	p.R170R	PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000539622.1_5'Flank|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000537352.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	170						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						TCTCCTGAGGCCGGTCCTTGG	0.577																																																	0													152	130	138					16																	8889941		2197	4300	6497	SO:0001819	synonymous_variant	0			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.510G>A	16.37:g.8889941C>T			B2RAY0|Q9Y4T4	Silent	SNP	NULL	p.R170	ENST00000333050.6	37	c.510	CCDS10535.1	16																																																																																			TMEM186	-	NULL	ENSG00000184857		0.577	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM186	HGNC	protein_coding	OTTHUMT00000251903.1	-	0	74	0	C	NM_015421		8889941	-1	tier1	-	no_errors	ENST00000333050	ensembl	human	known	74_37	silent	19.19	80	19	SNP	0.000	T	T	8889941	C	T	8889941	2	4	87	1	0	0	0	0	0	0	0	1	16155	726	26	3		3	TMEM186	16	8889941	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	160865	8889941	81464812	1482	24606											
USP7	7874	genome.wustl.edu	37	chr16	9000392	9000393	+	Frame_Shift_Ins	INS	-	-	T																															tgcagggtccttaggatctgINSttttttgcaaaaattcatca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:9000392_9000393insT	ENST00000344836.4	-	13	1516_1517	c.1318_1319insA	c.(1318-1320)acafs	p.T440fs	USP7_ENST00000381886.4_Frame_Shift_Ins_p.T424fs|USP7_ENST00000535863.1_Frame_Shift_Ins_p.T341fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	440	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTAGGATCTGTTTTTTGCAAA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"Ubiquitin-specific peptidases"	12630	protein-coding gene	gene with protein product		602519	"ubiquitin specific protease 7 (herpes virus-associated)"	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1319dupA	16.37:g.9000398_9000398dupT	ENSP00000343535:p.Thr440fs		A6NMY8|B7Z815|H0Y3G8	Frame_Shift_Ins	INS	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.T440fs	ENST00000344836.4	37	c.1319_1318	CCDS32385.1	16																																																																																			USP7	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000187555		0.332	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2		0	35	0	-			9000393	-1	tier1		no_errors	ENST00000344836	ensembl	human	known	74_37	frame_shift_ins	25.49	38	13	INS	0.997:1.000	T	T	9000393	-	T	9000392	7	5	87	1	0	1	1	0	0	0	0	0	17137	1377	48	0	2065	0	USP7	16	9000392	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	110451	9000392	81354361	1483	24607											
CLEC16A	23274	genome.wustl.edu	37	chr16	11272339	11272339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccccagcctcgtccCtgcccggcagcccaccattt	4	8	7	22	2	0	0	0	0	0	0	3	0	2	0	8	1	3	1	8	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:11272339C>A	ENST00000409790.1	+	24	3184	c.2954C>A	c.(2953-2955)cCt>cAt	p.P985H	CLEC16A_ENST00000381822.2_Missense_Mutation_p.P72H	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCTCGTCCCTGCCCGGCAG	0.637																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											61	74	70					16																	11272339		2157	4252	6409	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2954C>A	16.37:g.11272339C>A	ENSP00000387122:p.Pro985His			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.P985H	ENST00000409790.1	37	c.2954	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723149	0.68959	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.61859	0.07	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	L	0.27053	0.805	0.42111	D	0.991385	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.69939	-0.5009	10	0.87932	D	0	-17.1931	15.032	0.71713	0.0:1.0:0.0:0.0	.	72;985	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	H	985;985;72	ENSP00000387122:P985H	ENSP00000371244:P72H	P	+	2	0	CLEC16A	11179840	1.000000	0.71417	0.212000	0.23672	0.766000	0.43426	5.480000	0.66820	2.304000	0.77564	0.655000	0.94253	CCT	CLEC16A	-	NULL	ENSG00000038532		0.637	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0	62	0	C	NM_015226		11272339	1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.992	A	A	11272339	C	A	11272339	3	1	87	1	0	0	0	0	1	0	0	0	3507	681	24	3	3044	3	CLEC16A	16	11272339	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2271947	11272339	79082414	1484	24608											
TXNDC11	51061	genome.wustl.edu	37	chr16	11773555	11773555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgctgtaagactgcctcGctctgaagacactccttggt	7	10	9	15	2	1	3	0	1	1	2	3	3	2	3	4	1	1	3	4	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:11773555G>A	ENST00000356957.3	-	13	2561	c.2454C>T	c.(2452-2454)agC>agT	p.S818S	TXNDC11_ENST00000283033.5_Silent_p.S791S|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	818					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGACTGCCTCGCTCTGAAGAC	0.537																																																	0													80	69	73					16																	11773555		2197	4300	6497	SO:0001819	synonymous_variant	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2454C>T	16.37:g.11773555G>A			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.S818	ENST00000356957.3	37	c.2454		16																																																																																			TXNDC11	-	NULL	ENSG00000153066		0.537	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	-	0	47	0	G	NM_015914		11773555	-1	tier1	-	no_errors	ENST00000356957	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.148	A	A	11773555	G	A	11773555	2	1	87	1	0	0	0	0	0	0	0	1	16841	1078	38	1		1	TXNDC11	16	11773555	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	501216	11773555	78581198	1485	24609											
TXNDC11	51061	genome.wustl.edu	37	chr16	11824630	11824630	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtattcgattggtccaaaActagtaccaaaaaataaaaa	19	11	5	6	1	0	0	0	0	0	0	2	1	1	0	2	1	2	2	2	1	11	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:11824630A>T	ENST00000356957.3	-	4	677	c.570T>A	c.(568-570)agT>agA	p.S190R	TXNDC11_ENST00000283033.5_Splice_Site_p.S190R			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	190	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTGGTCCAAAACTAGTACCAa	0.343																																																	0													54	54	54					16																	11824630		2197	4300	6497	SO:0001630	splice_region_variant	0			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"EF-hand binding protein 1"					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.570-1T>A	16.37:g.11824630A>T			O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.S190R	ENST00000356957.3	37	c.570		16	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261630	0.23051	.	.	ENSG00000153066	ENST00000356957;ENST00000283033;ENST00000436567	T;T	0.22539	1.95;1.95	5.11	5.11	0.69529	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.082643	0.85682	D	0.000000	T	0.08537	0.0212	N	0.12746	0.255	0.44825	D	0.997836	B;P	0.37731	0.127;0.607	B;B	0.30782	0.066;0.12	T	0.21177	-1.0253	10	0.08381	T	0.77	.	8.8256	0.35052	0.9168:0.0:0.0832:0.0	.	190;190	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	R	190;190;133	ENSP00000349439:S190R;ENSP00000283033:S190R	ENSP00000283033:S190R	S	-	3	2	TXNDC11	11732131	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.496000	0.45346	2.138000	0.66242	0.482000	0.46254	AGT	TXNDC11	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000153066		0.343	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC11	HGNC	protein_coding	OTTHUMT00000437057.1	-	0	105	0	A	NM_015914	Missense_Mutation	11824630	-1	tier1	-	no_errors	ENST00000356957	ensembl	human	known	74_37	missense	8.33	99	9	SNP	1.000	T	T	11824630	A	T	11824630	5	4	87	1	0	0	0	0	0	0	1	0	16841	57	2	5	2342	5	TXNDC11	16	11824630	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	51075	11824630	78530123	1486	24610											
MKL2	57496	genome.wustl.edu	37	chr16	14346300	14346300	+	Frame_Shift_Del	DEL	C	C	-																															cagtcgccaagacaaaagatCccccccgctatgaggaggcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:14346300delC	ENST00000341243.5	+	13	2611	c.2611delC	c.(2611-2613)cccfs	p.P872fs	MKL2_ENST00000318282.5_Frame_Shift_Del_p.P833fs|MKL2_ENST00000571589.1_Frame_Shift_Del_p.P883fs|MKL2_ENST00000574045.1_Frame_Shift_Del_p.P833fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	872					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACAAAAGATCCCCCCCGCTA	0.562																																																	0													78	79	79					16																	14346300		2197	4300	6497	SO:0001589	frameshift_variant	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2611delC	16.37:g.14346300delC	ENSP00000345841:p.Pro872fs		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Del	DEL	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.R873fs	ENST00000341243.5	37	c.2611		16																																																																																			MKL2	-	NULL	ENSG00000186260		0.562	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding			0	50	0	C	NM_014048		14346300	1	tier1		no_errors	ENST00000341243	ensembl	human	known	74_37	frame_shift_del	14.29	36	6	DEL	1.000	-	-	14346300	C	-	14346300	7	5	87	1	0	1	0	1	0	0	0	0	9640	855	30	0	2544	0	MKL2	16	14346300	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	2521670	14346300	76008453	1487	24611											
MYH11	4629	genome.wustl.edu	37	chr16	15815323	15815323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaccaggtcttccatttCggctttgagcattttgttgg	5	16	11	9	1	1	2	0	2	1	0	3	2	2	2	2	3	1	4	2	3	0	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:15815323C>T	ENST00000300036.5	-	32	4643	c.4534G>A	c.(4534-4536)Gaa>Aaa	p.E1512K	NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.E1519K|MYH11_ENST00000576790.2_Missense_Mutation_p.E1512K|MYH11_ENST00000396324.3_Missense_Mutation_p.E1519K|NDE1_ENST00000396355.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1512					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCCATTTCGGCTTTGAGC	0.567			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													132	110	118					16																	15815323		2197	4300	6497	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4534G>A	16.37:g.15815323C>T	ENSP00000300036:p.Glu1512Lys		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1519K	ENST00000300036.5	37	c.4555	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.256252	0.95336	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.84	4.84	0.62591	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	M	0.93283	3.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.74023	0.982;0.982;0.982;0.969;0.982	D	0.95094	0.8224	10	0.87932	D	0	.	16.9271	0.86179	0.0:1.0:0.0:0.0	.	1519;1512;1519;1512;1519	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	K	1512;1512;1519;1519;1519	ENSP00000300036:E1512K;ENSP00000345136:E1512K;ENSP00000379616:E1519K;ENSP00000407821:E1519K	ENSP00000300036:E1512K	E	-	1	0	MYH11	15722824	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	7.770000	0.85390	2.224000	0.72417	0.313000	0.20887	GAA	MYH11	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000133392		0.567	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	-	0	80	0	C	NM_001040113		15815323	-1	tier1	-	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	T	T	15815323	C	T	15815323	3	4	87	1	0	0	0	0	1	0	0	0	10069	893	31	1	1459	1	MYH11	16	15815323	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1469023	15815323	74539430	1488	24612											
DNAH3	55567	genome.wustl.edu	37	chr16	21128571	21128572	+	Frame_Shift_Ins	INS	-	-	A																															ataccttgaaagtttgaatcINSaaaaaatcagaaacaagttt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:21128571_21128572insA	ENST00000261383.3	-	12	1765_1766	c.1766_1767insT	c.(1765-1767)ttgfs	p.L589fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.L589fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	589	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGTTTGAATCAAAAAATCAGA	0.356																																																	0																																										SO:0001589	frameshift_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1767dupT	16.37:g.21128577_21128577dupA	ENSP00000261383:p.Leu589fs		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.L589fs	ENST00000261383.3	37	c.1767_1766	CCDS10594.1	16																																																																																			DNAH3	-	superfamily_P-loop_NTPase	ENSG00000158486		0.356	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0	44	0	0	NM_017539		21128572	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	frame_shift_ins	12.96	47	7	INS	0.102:0.122	A	A	21128572	-	A	21128571	7	5	87	1	0	1	1	0	0	0	0	0	4617	825	29	0	10786	0	DNAH3	16	21128571	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	5313248	21128571	69226182	1489	24613											
DNAH3	55567	genome.wustl.edu	37	chr16	21136676	21136676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaggtaaaaagctgggcGcaggtggggatccacctgta	10	7	16	8	2	0	1	0	1	0	0	1	2	1	2	2	5	1	4	2	5	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:21136676G>A	ENST00000261383.3	-	9	1223	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Silent_p.C408C	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	408	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAAGCTGGGCGCAGGTGGGGA	0.517																																																	0													63	66	65					16																	21136676		2201	4300	6501	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1224C>T	16.37:g.21136676G>A			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.C408	ENST00000261383.3	37	c.1224	CCDS10594.1	16																																																																																			DNAH3	-	NULL	ENSG00000158486		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	37	0	G	NM_017539		21136676	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	A	A	21136676	G	A	21136676	2	1	87	1	0	0	0	0	0	0	0	1	4617	1079	38	1		1	DNAH3	16	21136676	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	8105	21136676	69218077	1490	24614											
EEF2K	29904	genome.wustl.edu	37	chr16	22262606	22262606	+	Frame_Shift_Del	DEL	G	G	-																															acagatggaggccaagctctGgggggaggagtataatcggc																								rs139820091		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:22262606delG	ENST00000263026.5	+	6	1055	c.581delG	c.(580-582)tggfs	p.W194fs		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	194	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GCCAAGCTCTGGGGGGAGGAG	0.617																																					NSCLC(195;1411 2157 20319 27471 51856)												0													68	62	64					16																	22262606		2197	4300	6497	SO:0001589	frameshift_variant	0			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.581delG	16.37:g.22262606delG	ENSP00000263026:p.Trp194fs		Q8N588	Frame_Shift_Del	DEL	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.E196fs	ENST00000263026.5	37	c.581	CCDS10604.1	16																																																																																			EEF2K	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000103319		0.617	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2		0	30	0	G	NM_013302		22262606	1	tier1		no_errors	ENST00000263026	ensembl	human	known	74_37	frame_shift_del	10.71	25	3	DEL	1.000	-	-	22262606	G	-	22262606	7	5	87	1	0	1	0	1	0	0	0	0	4944	1357	47	0	599	0	EEF2K	16	22262606	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	1125930	22262606	68092147	1491	24615											
PLK1	5347	genome.wustl.edu	37	chr16	23695251	23695251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagacagatcccactgccCgcccaaccattaacgagctg	11	7	7	16	2	1	2	1	0	0	2	2	3	2	2	4	0	4	1	4	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:23695251C>T	ENST00000300093.4	+	5	988	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TCCCACTGCCCGCCCAACCAT	0.547																																					Colon(12;240 564 27038 33155)												0													232	242	238					16																	23695251		2197	4300	6497	SO:0001583	missense	0				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.877C>T	16.37:g.23695251C>T	ENSP00000300093:p.Arg293Cys		Q15153|Q99746	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.R293C	ENST00000300093.4	37	c.877	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193936	0.78902	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.72051	-0.62	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89808	0.6822	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92524	0.6027	10	0.87932	D	0	-26.3958	11.5873	0.50925	0.1783:0.8217:0.0:0.0	.	293	P53350	PLK1_HUMAN	C	293;196	ENSP00000300093:R293C	ENSP00000300093:R293C	R	+	1	0	PLK1	23602752	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.392000	0.52537	2.560000	0.86352	0.655000	0.94253	CGC	PLK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000166851		0.547	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK1	HGNC	protein_coding	OTTHUMT00000214057.2	-	0	61	0	C	NM_005030		23695251	1	tier1	-	no_errors	ENST00000300093	ensembl	human	known	74_37	missense	20.00	60	15	SNP	1.000	T	T	23695251	C	T	23695251	3	4	87	1	0	0	0	0	1	0	0	0	12133	652	23	1	895	1	PLK1	16	23695251	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1432645	23695251	66659502	1492	24616											
ERN2	5347	genome.wustl.edu	37	chr16	23702270	23702270	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgtgtggaggagcagcCgtgggaagcggtttgtgaag	7	8	21	5	3	0	1	0	1	0	0	0	4	0	4	1	5	4	2	1	5	2	1	rs377283392		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:23702270C>T	ENST00000300093.4	+	0	2227				ERN2_ENST00000256797.4_Missense_Mutation_p.R936Q|CTD-2196E14.5_ENST00000566143.1_RNA|ERN2_ENST00000457008.2_Missense_Mutation_p.R836Q	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1						activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.R936Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGGAGCAGCCGTGGGAAGCG	0.627																																					Colon(12;240 564 27038 33155)												1	Substitution - Missense(1)	large_intestine(1)											68	66	66					16																	23702270		2197	4300	6497	SO:0001628	intergenic_variant	0				CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"polo-like kinase (Drosophila)"	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984		16.37:g.23702270C>T			Q15153|Q99746	Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.R936Q	ENST00000300093.4	37	c.2807	CCDS10616.1	16	.	.	.	.	.	.	.	.	.	.	C	4.439	0.081159	0.08533	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.29142	1.58;1.58	5.22	-3.28	0.05033	.	0.708209	0.13566	N	0.378434	T	0.14527	0.0351	L	0.28458	0.855	0.22601	N	0.998946	B;B	0.26081	0.141;0.023	B;B	0.19666	0.013;0.026	T	0.25572	-1.0128	10	0.18276	T	0.48	.	4.4086	0.11421	0.24:0.3856:0.0:0.3743	.	836;888	E7ETG2;A5YM65	.;.	Q	936;836	ENSP00000256797:R936Q;ENSP00000413812:R836Q	ENSP00000256797:R936Q	R	-	2	0	ERN2	23609771	0.000000	0.05858	0.028000	0.17463	0.007000	0.05969	-0.248000	0.08854	-0.173000	0.10761	-1.332000	0.01269	CGG	ERN2	-	pfam_KEN_dom,smart_PUG-dom	ENSG00000134398		0.627	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000214057.2		0	37	0	C	NM_005030		23702270	-1			no_errors	ENST00000256797	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.004	T	T	23702270	C	T	23702270	1	4	87	0	1	0	0	0	0	0	0	0	5254	652	23	1		1	ERN2	16	23702270	IGR	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	7019	23702270	66652483	1493	24617											
PRKCB	5579	genome.wustl.edu	37	chr16	24105543	24105543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatttgggattgggattTgaccagcaggaatgacttca	12	11	13	5	0	1	3	1	2	0	1	1	7	1	6	1	3	1	1	1	3	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24105543T>C	ENST00000321728.7	+	7	921	c.746T>C	c.(745-747)tTg>tCg	p.L249S	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.L249S	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	249	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GATTGGGATTTGACCAGCAGG	0.423																																																	0													163	149	154					16																	24105543		2197	4300	6497	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.746T>C	16.37:g.24105543T>C	ENSP00000318315:p.Leu249Ser		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.L249S	ENST00000321728.7	37	c.746	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	T	16.18	3.050741	0.55218	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.68331	-0.32;-0.32	5.52	5.52	0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.084958	0.49305	D	0.000154	T	0.52853	0.1760	N	0.20357	0.565	0.58432	D	0.999997	B;B	0.16603	0.013;0.018	B;B	0.22152	0.015;0.038	T	0.48091	-0.9065	10	0.27082	T	0.32	.	14.8443	0.70249	0.0:0.0:0.0:1.0	.	249;249	P05771-2;P05771	.;KPCB_HUMAN	S	249	ENSP00000318315:L249S;ENSP00000305355:L249S	ENSP00000305355:L249S	L	+	2	0	PRKCB	24013044	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.660000	0.61511	2.088000	0.63022	0.533000	0.62120	TTG	PRKCB	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom	ENSG00000166501		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	74	0	T	NM_212535		24105543	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	19.18	59	14	SNP	1.000	C	C	24105543	T	C	24105543	3	2	87	1	0	0	0	0	1	0	0	0	12550	1821	63	4	772	4	PRKCB	16	24105543	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	403273	24105543	66249210	1494	24618											
RBBP6	5930	genome.wustl.edu	37	chr16	24583221	24583221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaattgacaagagtactGtcaagcctaaaccccagtta	15	8	8	10	0	1	2	1	1	0	1	1	2	1	2	3	1	3	3	3	1	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24583221G>A	ENST00000319715.4	+	18	5266	c.4834G>A	c.(4834-4836)Gtc>Atc	p.V1612I	RBBP6_ENST00000381039.3_Missense_Mutation_p.V772I|RBBP6_ENST00000348022.2_Missense_Mutation_p.V1578I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1612					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAAGAGTACTGTCAAGCCTAA	0.378																																																	0													87	92	90					16																	24583221		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"proliferation potential-related protein"	600938	"retinoblastoma-binding protein 6"			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4834G>A	16.37:g.24583221G>A	ENSP00000317872:p.Val1612Ile		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.V1612I	ENST00000319715.4	37	c.4834	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	0.302	-0.973000	0.02215	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17854	2.25;2.48;2.48	5.94	-10.6	0.00265	.	1.458410	0.03935	N	0.286013	T	0.08846	0.0219	N	0.17082	0.46	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.44174	-0.9345	10	0.05959	T	0.93	2.5205	16.7382	0.85453	0.0998:0.2346:0.6656:0.0	.	772;1578;1612	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	I	772;1612;1578	ENSP00000370427:V772I;ENSP00000317872:V1612I;ENSP00000316291:V1578I	ENSP00000317872:V1612I	V	+	1	0	RBBP6	24490722	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.906000	0.04071	-1.979000	0.00992	-0.251000	0.11542	GTC	RBBP6	-	NULL	ENSG00000122257		0.378	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0	47	0	G	NM_006910		24583221	1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.000	A	A	24583221	G	A	24583221	3	1	87	1	0	0	0	0	1	0	0	0	13148	1377	48	3	4958	3	RBBP6	16	24583221	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	477678	24583221	65771532	1495	24619											
SLC5A11	115584	genome.wustl.edu	37	chr16	24919407	24919407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgcagccgcctgtggcGgtggtcttcatcatgggatg	5	11	14	11	2	3	0	2	0	1	0	3	1	3	1	3	4	3	1	3	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24919407G>A	ENST00000347898.3	+	13	2011	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A	SLC5A11_ENST00000568579.1_Silent_p.A393A|SLC5A11_ENST00000449109.2_Silent_p.A307A|SLC5A11_ENST00000539472.1_Silent_p.A399A|SLC5A11_ENST00000567758.1_Silent_p.A428A|SLC5A11_ENST00000565769.1_Silent_p.A399A|SLC5A11_ENST00000569071.1_Silent_p.A307A|SLC5A11_ENST00000545376.1_Silent_p.A393A|SLC5A11_ENST00000424767.2_Silent_p.A428A	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CGCCTGTGGCGGTGGTCTTCA	0.572																																																	0													91	99	96					16																	24919407		2197	4300	6497	SO:0001819	synonymous_variant	0			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1389G>A	16.37:g.24919407G>A				Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A463	ENST00000347898.3	37	c.1389	CCDS10625.1	16																																																																																			SLC5A11	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000158865		0.572	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	-	0	60	0	G	NM_052944		24919407	1	tier1	-	no_errors	ENST00000347898	ensembl	human	known	74_37	silent	18.75	39	9	SNP	0.043	A	A	24919407	G	A	24919407	2	1	87	1	0	0	0	0	0	0	0	1	14708	1103	39	1		1	SLC5A11	16	24919407	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	336186	24919407	65435346	1496	24620											
ARHGAP17	55114	genome.wustl.edu	37	chr16	24960750	24960750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttaacaaaattttgtggtgGcaacttctgacatgttctcc	10	15	8	8	0	2	1	0	1	2	0	3	1	2	1	1	2	2	3	1	2	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:24960750G>A	ENST00000289968.6	-	13	1171	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P368S	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	368	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTTTGTGGTGGCAACTTCTGA	0.353																																																	0													117	105	109					16																	24960750		2196	4300	6496	SO:0001583	missense	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"Rho GTPase activating proteins"	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.1102C>T	16.37:g.24960750G>A	ENSP00000289968:p.Pro368Ser		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P368S	ENST00000289968.6	37	c.1102	CCDS32409.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.111675	0.94339	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000455311	T;T	0.27557	1.66;1.66	6.06	6.06	0.98353	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.42053	D	0.000780	T	0.66906	0.2837	M	0.92649	3.33	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.73777	-0.3876	10	0.87932	D	0	.	18.1147	0.89549	0.0:0.0:1.0:0.0	.	368;368;368	C9IZD3;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	S	368	ENSP00000289968:P368S;ENSP00000303130:P368S	ENSP00000289968:P368S	P	-	1	0	ARHGAP17	24868251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.733000	0.91539	2.882000	0.98803	0.655000	0.94253	CCA	ARHGAP17	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000140750		0.353	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	-	0	56	0	G	NM_018054		24960750	-1	tier1	-	no_errors	ENST00000289968	ensembl	human	known	74_37	missense	11.63	38	5	SNP	1.000	A	A	24960750	G	A	24960750	3	1	87	1	0	0	0	0	1	0	0	0	867	1203	42	3	1575	3	ARHGAP17	16	24960750	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	41343	24960750	65394003	1497	24621											
LCMT1	51451	genome.wustl.edu	37	chr16	25143764	25143764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtcagtcagcttataaagGcatttctacggaagacagaa	14	10	10	7	1	3	2	2	0	1	2	3	3	3	3	0	2	2	2	0	2	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:25143764G>A	ENST00000399069.3	+	3	402	c.247G>A	c.(247-249)Gca>Aca	p.A83T	LCMT1_ENST00000380966.4_Missense_Mutation_p.A83T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	83					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GCTTATAAAGGCATTTCTACG	0.463																																					Colon(200;565 2072 24396 47922 50898)												0													131	124	126					16																	25143764		1947	4146	6093	SO:0001583	missense	0			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.247G>A	16.37:g.25143764G>A	ENSP00000382021:p.Ala83Thr		A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1	p.A83T	ENST00000399069.3	37	c.247	CCDS45445.1	16	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995294	0.54147	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.24538	1.85;1.85	5.51	5.51	0.81932	.	0.060065	0.64402	D	0.000003	T	0.33469	0.0864	M	0.65975	2.015	0.58432	D	0.999994	P;P	0.42375	0.778;0.655	B;B	0.43103	0.408;0.215	T	0.04115	-1.0976	10	0.25106	T	0.35	-20.8564	16.9326	0.86195	0.0:0.0:1.0:0.0	.	83;83	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	T	83;83;100	ENSP00000382021:A83T;ENSP00000370353:A83T	ENSP00000370349:A100T	A	+	1	0	LCMT1	25051265	1.000000	0.71417	0.709000	0.30452	0.602000	0.36980	4.786000	0.62425	2.591000	0.87537	0.655000	0.94253	GCA	LCMT1	-	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1	ENSG00000205629		0.463	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	-	0	69	0	G	NM_016309		25143764	1	tier1	-	no_errors	ENST00000399069	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	A	A	25143764	G	A	25143764	3	1	87	1	0	0	0	0	1	0	0	0	8706	1203	42	3	257	3	LCMT1	16	25143764	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	183014	25143764	65210989	1498	24622											
HS3ST4	9951	genome.wustl.edu	37	chr16	25703777	25703777	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccgcctccgcctccGcctccacctctggccgcgcc	1	7	7	26	5	1	0	0	0	1	0	6	0	6	0	12	1	0	0	12	1	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:25703777G>A	ENST00000331351.5	+	1	431	c.39G>A	c.(37-39)ccG>ccA	p.P13P		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	13					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ctccgcctccgcctccacctc	0.776																																																	0													3	3	3					16																	25703777		1040	2263	3303	SO:0001819	synonymous_variant	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.39G>A	16.37:g.25703777G>A			Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P13	ENST00000331351.5	37	c.39	CCDS53995.1	16																																																																																			HS3ST4	-	NULL	ENSG00000182601		0.776	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2		0	19	0	G	NM_006040		25703777	1			no_errors	ENST00000331351	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	A	A	25703777	G	A	25703777	2	1	87	1	0	0	0	0	0	0	0	1	7394	1074	38	1		1	HS3ST4	16	25703777	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	560013	25703777	64650976	1499	24623											
GTF3C1	2975	genome.wustl.edu	37	chr16	27549607	27549607	+	Frame_Shift_Del	DEL	C	C	-																															gggcagcttcaggtcgggatCcccctcctggcctatcaagg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:27549607delC	ENST00000356183.4	-	3	517	c.502delG	c.(502-504)gatfs	p.D168fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.D168fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	168					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGTCGGGATCCCCCTCCTGG	0.592																																																	0													71	66	68					16																	27549607		2197	4300	6497	SO:0001589	frameshift_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"General transcription factors"	4664	protein-coding gene	gene with protein product		603246	"general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.502delG	16.37:g.27549607delC	ENSP00000348510:p.Asp168fs		B2RP21|Q12838|Q6DKN9|Q9Y4W9	Frame_Shift_Del	DEL	pfam_TFIIIC_Bblock-bd	p.D168fs	ENST00000356183.4	37	c.502	CCDS32414.1	16																																																																																			GTF3C1	-	NULL	ENSG00000077235		0.592	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1		0	37	0	C	NM_001520		27549607	-1	tier1		no_errors	ENST00000356183	ensembl	human	known	74_37	frame_shift_del	16.67	20	4	DEL	1.000	-	-	27549607	C	-	27549607	7	5	87	1	0	1	0	1	0	0	0	0	6899	855	30	0	5967	0	GTF3C1	16	27549607	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1845830	27549607	62805146	1500	24624											
ATP2A1	487	genome.wustl.edu	37	chr16	28909403	28909403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctgtctattgctccccagCcaaatcttcccgggctgctg	5	12	9	15	1	3	0	0	0	3	0	5	0	5	0	4	1	3	3	4	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:28909403C>T	ENST00000357084.3	+	13	1769	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A501V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A376V	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	501					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCTCCCCAGCCAAATCTTCC	0.532																																																	0													88	91	90					16																	28909403		2197	4300	6497	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1502C>T	16.37:g.28909403C>T	ENSP00000349595:p.Ala501Val		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.A501V	ENST00000357084.3	37	c.1502	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663860	0.47572	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.82526	-1.62;-1.62;-1.62	5.35	4.38	0.52667	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.105905	0.64402	D	0.000006	T	0.77370	0.4120	L	0.45352	1.415	0.52501	D	0.999958	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.71961	-0.4434	10	0.37606	T	0.19	.	14.2027	0.65714	0.1512:0.8488:0.0:0.0	.	376;501;501	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	V	501;501;538;376	ENSP00000349595:A501V;ENSP00000378879:A501V;ENSP00000443101:A376V	ENSP00000349595:A501V	A	+	2	0	ATP2A1	28816904	0.133000	0.22466	0.976000	0.42696	0.996000	0.88848	0.811000	0.27198	1.215000	0.43411	0.655000	0.94253	GCC	ATP2A1	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000196296		0.532	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	-	0	57	0	C	NM_004320		28909403	1	tier1	-	no_errors	ENST00000357084	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	T	T	28909403	C	T	28909403	3	4	87	1	0	0	0	0	1	0	0	0	1137	739	26	3	1552	3	ATP2A1	16	28909403	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1359796	28909403	61445350	1501	24625											
ATP2A1	487	genome.wustl.edu	37	chr16	28912091	28912091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggaggtggccgatcgcGcctacacgggccgagagttc	8	5	16	12	6	0	1	0	0	0	1	2	5	0	2	3	4	1	1	3	4	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:28912091G>A	ENST00000357084.3	+	15	2221	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	ATP2A1_ENST00000395503.4_Missense_Mutation_p.A652T|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A527T	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	652					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGCCGATCGCGCCTACACGGG	0.637																																																	0													85	71	76					16																	28912091		2197	4300	6497	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1954G>A	16.37:g.28912091G>A	ENSP00000349595:p.Ala652Thr		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.A652T	ENST00000357084.3	37	c.1954	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767100	0.90020	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99080	-5.4;-5.4;-5.4	5.31	4.35	0.52113	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.51477	U	0.000091	D	0.98544	0.9514	M	0.71296	2.17	0.54753	D	0.999983	D;D;P	0.56521	0.975;0.976;0.883	P;P;B	0.51742	0.531;0.678;0.306	D	0.98171	1.0452	10	0.56958	D	0.05	.	13.1141	0.59289	0.0797:0.0:0.9203:0.0	.	527;652;652	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	T	652;652;689;527	ENSP00000349595:A652T;ENSP00000378879:A652T;ENSP00000443101:A527T	ENSP00000349595:A652T	A	+	1	0	ATP2A1	28819592	1.000000	0.71417	0.810000	0.32431	0.708000	0.40852	9.783000	0.99037	1.244000	0.43870	0.485000	0.47835	GCC	ATP2A1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000196296		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2		0	50	0	G	NM_004320		28912091	1			no_errors	ENST00000357084	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.998	A	A	28912091	G	A	28912091	3	1	87	1	0	0	0	0	1	0	0	0	1137	1087	38	1	2012	1	ATP2A1	16	28912091	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2688	28912091	61442662	1502	24626											
SPNS1	83985	genome.wustl.edu	37	chr16	28995600	28995600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctccacccgcgtgcccGtggccagtgtgctcatctga	4	8	12	17	4	2	1	1	1	1	0	3	1	3	1	5	1	2	2	5	1	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:28995600G>A	ENST00000311008.11	+	12	1944	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	SPNS1_ENST00000334536.8_Missense_Mutation_p.V471M|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000565975.1_Missense_Mutation_p.V568M|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000352260.7_Missense_Mutation_p.V449M|LAT_ENST00000395461.3_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.V450M	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	523					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCGCGTGCCCGTGGCCAGTGT	0.697																																																	0													25	27	26					16																	28995600		2194	4293	6487	SO:0001583	missense	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1567G>A	16.37:g.28995600G>A	ENSP00000309945:p.Val523Met		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V523M	ENST00000311008.11	37	c.1567	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256559	0.59321	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.39406	1.6;1.08;1.1;1.66	4.45	4.45	0.53987	.	0.076374	0.50627	D	0.000101	T	0.57301	0.2044	L	0.48642	1.525	0.50171	D	0.999855	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.94;0.999	T	0.60934	-0.7164	10	0.87932	D	0	.	14.6389	0.68708	0.0:0.0:1.0:0.0	.	449;523;471	Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;SPNS1_HUMAN;.	M	523;471;449;450	ENSP00000309945:V523M;ENSP00000335494:V471M;ENSP00000306050:V449M;ENSP00000318228:V450M	ENSP00000309945:V523M	V	+	1	0	SPNS1	28903101	1.000000	0.71417	0.952000	0.39060	0.430000	0.31655	6.756000	0.74919	2.311000	0.77944	0.655000	0.94253	GTG	SPNS1	-	NULL	ENSG00000169682		0.697	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2		0	19	0	G	NM_032038		28995600	1			no_errors	ENST00000311008	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.979	A	A	28995600	G	A	28995600	3	1	87	1	0	0	0	0	1	0	0	0	15121	1145	40	1	1613	1	SPNS1	16	28995600	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	83509	28995600	61359153	1503	24627											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29906705	29906706	+	Frame_Shift_Ins	INS	-	-	G																															ggatgagttggccaggagtcINSggggggccaggcctggggat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:29906705_29906706insG	ENST00000308713.5	-	5	1254_1255	c.727_728insC	c.(727-729)cgafs	p.R243fs	SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.R199fs|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.R173fs	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	243	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCAGGAGTCGGGGGGCCAGG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.728dupC	16.37:g.29906711_29906711dupG	ENSP00000312550:p.Arg243fs		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Frame_Shift_Ins	INS	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R243fs	ENST00000308713.5	37	c.728_727	CCDS10659.1	16																																																																																			SEZ6L2	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000174938		0.639	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2		0	166	0	-	NM_012410		29906706	-1	tier1		no_errors	ENST00000308713	ensembl	human	known	74_37	frame_shift_ins	17.57	122	26	INS	1.000:1.000	G	G	29906706	-	G	29906705	7	5	87	1	0	1	1	0	0	0	0	0	14189	884	31	0	2099	0	SEZ6L2	16	29906705	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	911105	29906705	60448048	1504	24628											
ASPHD1	253982	genome.wustl.edu	37	chr16	29912622	29912622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggccctaggggctgggagCcgagctgggggtgttcgtgg	4	7	21	9	2	0	0	0	0	0	0	1	2	0	1	2	7	2	3	2	7	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:29912622C>T	ENST00000308748.5	+	1	582	c.330C>T	c.(328-330)agC>agT	p.S110S	SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank|ASPHD1_ENST00000483405.1_Intron|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	110	Gly-rich.				peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GGGCTGGGAGCCGAGCTGGGG	0.692																																																	0													35	41	39					16																	29912622		2138	4244	6382	SO:0001819	synonymous_variant	0			AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.330C>T	16.37:g.29912622C>T			A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.S110	ENST00000308748.5	37	c.330	CCDS10660.1	16																																																																																			ASPHD1	-	NULL	ENSG00000174939		0.692	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPHD1	HGNC	protein_coding	OTTHUMT00000255163.2	-	0	32	0	C	NM_181718		29912622	1	tier1	-	no_errors	ENST00000308748	ensembl	human	known	74_37	silent	34.48	19	10	SNP	0.827	T	T	29912622	C	T	29912622	2	4	87	1	0	0	0	0	0	0	0	1	1055	738	26	3		3	ASPHD1	16	29912622	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5917	29912622	60442131	1505	24629											
DOC2A	8448	genome.wustl.edu	37	chr16	30018407	30018407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacatggaagagggggacGccagctgagggggcaaagag	12	3	19	7	1	0	4	0	2	0	2	0	6	0	6	1	5	1	2	1	5	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30018407G>A	ENST00000350119.4	-	7	849	c.659C>T	c.(658-660)gCg>gTg	p.A220V	DOC2A_ENST00000564979.1_Missense_Mutation_p.A220V|DOC2A_ENST00000564944.1_Missense_Mutation_p.A220V	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	220	Interaction with UNC13D.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						AGAGGGGGACGCCAGCTGAGG	0.672																																																	0													27	30	29					16																	30018407		2196	4299	6495	SO:0001583	missense	0			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"Synaptotagmins"	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.659C>T	16.37:g.30018407G>A	ENSP00000340017:p.Ala220Val		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.A220V	ENST00000350119.4	37	c.659	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601257	0.28534	.	.	ENSG00000149927	ENST00000350119	T	0.62639	0.01	5.14	4.17	0.49024	C2 calcium/lipid-binding domain, CaLB (1);	0.381339	0.22150	N	0.063935	T	0.43322	0.1242	N	0.22421	0.69	0.30217	N	0.797167	B	0.28801	0.223	B	0.14578	0.011	T	0.41448	-0.9508	10	0.32370	T	0.25	.	10.9919	0.47553	0.0918:0.0:0.9082:0.0	.	220	Q14183	DOC2A_HUMAN	V	220	ENSP00000340017:A220V	ENSP00000340017:A220V	A	-	2	0	DOC2A	29925908	0.345000	0.24835	0.999000	0.59377	0.261000	0.26267	1.485000	0.35519	2.552000	0.86080	0.491000	0.48974	GCG	DOC2A	-	superfamily_C2_dom,pirsf_Doc2	ENSG00000149927		0.672	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	-	0	65	0	G	NM_003586		30018407	-1	tier1	-	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	31.51	50	23	SNP	0.995	A	A	30018407	G	A	30018407	3	1	87	1	0	0	0	0	1	0	0	0	4697	1087	38	1	563	1	DOC2A	16	30018407	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	105785	30018407	60336346	1506	24630											
PPP4C	5531	genome.wustl.edu	37	chr16	30087711	30087711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggccatggcggagatcAgcgacctggaccggcagatc	8	5	17	11	3	1	2	1	0	0	2	2	5	1	3	3	6	1	1	3	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30087711A>G	ENST00000279387.7	+	2	181	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	PPP4C_ENST00000561610.1_Missense_Mutation_p.S5G	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	5					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						GGCGGAGATCAGCGACCTGGA	0.701																																																	0													23	23	23					16																	30087711		2195	4295	6490	SO:0001583	missense	0				CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9319	protein-coding gene	gene with protein product	"protein phosphatase X, catalytic subunit"	602035	"protein phosphatase 4 (formerly X), catalytic subunit"			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.13A>G	16.37:g.30087711A>G	ENSP00000279387:p.Ser5Gly		P33172	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.S5G	ENST00000279387.7	37	c.13	CCDS10669.1	16	.	.	.	.	.	.	.	.	.	.	A	31	5.101820	0.94245	.	.	ENSG00000149923	ENST00000279387	T	0.05996	3.36	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.09512	0.0234	L	0.58925	1.835	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.15093	-1.0449	10	0.22706	T	0.39	-5.6435	15.7887	0.78332	1.0:0.0:0.0:0.0	.	5	P60510	PP4C_HUMAN	G	5	ENSP00000279387:S5G	ENSP00000279387:S5G	S	+	1	0	PPP4C	29995212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.063000	0.71162	2.367000	0.80283	0.528000	0.53228	AGC	PPP4C	-	NULL	ENSG00000149923		0.701	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4C	HGNC	protein_coding	OTTHUMT00000255155.2		0	44	0	A	NM_002720		30087711	1			no_errors	ENST00000279387	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	G	G	30087711	A	G	30087711	3	3	87	1	0	0	0	0	1	0	0	0	12444	188	7	4	15	4	PPP4C	16	30087711	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	69304	30087711	60267042	1507	24631											
ZNF689	115509	genome.wustl.edu	37	chr16	30615890	30615890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtcgtcgcaggcgtgcaGcttctcctctgtgtgcgtgc	4	11	13	13	4	2	0	0	0	2	0	5	0	2	0	1	1	4	3	1	1	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30615890G>T	ENST00000287461.3	-	3	1535	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF689_ENST00000566673.1_5'Flank|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	400					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CAGGCGTGCAGCTTCTCCTCT	0.697																																																	0													15	15	15					16																	30615890		2189	4294	6483	SO:0001583	missense	0			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.1198C>A	16.37:g.30615890G>T	ENSP00000287461:p.Leu400Met		Q658J5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L400M	ENST00000287461.3	37	c.1198	CCDS10686.1	16	.	.	.	.	.	.	.	.	.	.	g	15.52	2.858083	0.51376	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.18960	2.18	5.39	4.44	0.53790	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38164	N	0.001797	T	0.36717	0.0977	L	0.46885	1.475	0.34061	D	0.657286	D	0.67145	0.996	D	0.68621	0.959	T	0.53158	-0.8478	10	0.87932	D	0	-18.9795	11.9276	0.52829	0.0835:0.0:0.9165:0.0	.	400	Q96CS4	ZN689_HUMAN	M	400	ENSP00000287461:L400M	ENSP00000287461:L400M	L	-	1	2	ZNF689	30523391	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	5.123000	0.64703	1.521000	0.48983	0.555000	0.69702	CTG	ZNF689	-	pfscan_Znf_C2H2	ENSG00000156853		0.697	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	HGNC	protein_coding	OTTHUMT00000255552.1	-	0	41	0	G	NM_138447		30615890	-1	tier1	-	no_errors	ENST00000287461	ensembl	human	known	74_37	missense	20.45	34	9	SNP	1.000	T	T	30615890	G	T	30615890	3	4	87	1	0	0	0	0	1	0	0	0	18142	962	34	3	308	3	ZNF689	16	30615890	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	528179	30615890	59738863	1508	24632											
SETD1A	9739	genome.wustl.edu	37	chr16	30975958	30975958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacctccttcaagcccCggcggtcagagaacagctac	10	7	8	16	2	3	1	3	0	0	1	4	2	4	1	4	2	5	1	4	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:30975958C>T	ENST00000262519.8	+	7	1581	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	299	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTTCAAGCCCCGGCGGTCAGA	0.607																																																	0													80	82	81					16																	30975958		2197	4300	6497	SO:0001583	missense	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"Chromatin-modifying enzymes / K-methyltransferases", "RNA binding motif (RRM) containing"	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.895C>T	16.37:g.30975958C>T	ENSP00000262519:p.Arg299Trp		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.R299W	ENST00000262519.8	37	c.895	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401925	0.42613	.	.	ENSG00000099381	ENST00000262519	D	0.96334	-3.98	5.63	5.63	0.86233	.	0.297069	0.29293	N	0.012570	D	0.97108	0.9055	L	0.55990	1.75	0.35467	D	0.797017	D	0.89917	1.0	D	0.66979	0.948	D	0.99936	1.1363	10	0.87932	D	0	.	14.1195	0.65177	0.0:0.8493:0.1507:0.0	.	299	O15047	SET1A_HUMAN	W	299	ENSP00000262519:R299W	ENSP00000262519:R299W	R	+	1	2	SETD1A	30883459	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.986000	0.49370	2.644000	0.89710	0.555000	0.69702	CGG	SETD1A	-	NULL	ENSG00000099381		0.607	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	-	0	53	0	C	NM_014712		30975958	1	tier1	-	no_errors	ENST00000262519	ensembl	human	known	74_37	missense	34.62	34	18	SNP	1.000	T	T	30975958	C	T	30975958	3	4	87	1	0	0	0	0	1	0	0	0	14175	643	23	1	917	1	SETD1A	16	30975958	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	360068	30975958	59378795	1509	24633											
ZNF668	79759	genome.wustl.edu	37	chr16	31072399	31072399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatgggcttcaggccggcCcctcttcaggcattcctagc	5	10	11	15	1	4	0	3	0	1	0	5	0	5	0	4	4	1	2	4	4	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31072399C>A	ENST00000538906.1	-	3	2634	c.1850G>T	c.(1849-1851)gGg>gTg	p.G617V	ZNF668_ENST00000539836.3_Missense_Mutation_p.G640V|ZNF668_ENST00000394983.2_Missense_Mutation_p.G617V|ZNF668_ENST00000300849.4_Missense_Mutation_p.G617V|ZNF668_ENST00000535577.1_Missense_Mutation_p.G617V|ZNF668_ENST00000426488.2_Missense_Mutation_p.G640V|ZNF668_ENST00000417110.2_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	617					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCAGGCCGGCCCCTCTTCAGG	0.657																																					Colon(181;1111 1980 5060 10512 25785)												0													31	39	36					16																	31072399		2125	4251	6376	SO:0001583	missense	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"Zinc fingers, C2H2-type"	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1850G>T	16.37:g.31072399C>A	ENSP00000440149:p.Gly617Val		C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G640V	ENST00000538906.1	37	c.1919	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143557	0.37825	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.19	4.23	0.50019	.	0.290389	0.25680	N	0.029002	T	0.04003	0.0112	N	0.14661	0.345	0.51012	D	0.999907	B	0.30068	0.267	B	0.22601	0.04	T	0.23190	-1.0195	10	0.05620	T	0.96	-27.9108	11.3779	0.49739	0.0:0.9146:0.0:0.0854	.	617	Q96K58	ZN668_HUMAN	V	640;617;617;617;617	ENSP00000442573:G640V;ENSP00000441349:G617V;ENSP00000440149:G617V;ENSP00000378434:G617V;ENSP00000300849:G617V	ENSP00000300849:G617V	G	-	2	0	ZNF668	30979900	0.004000	0.15560	0.998000	0.56505	0.503000	0.33858	0.728000	0.26013	1.414000	0.47017	0.655000	0.94253	GGG	ZNF668	-	NULL	ENSG00000167394		0.657	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	-	0	103	0	C	NM_024706		31072399	-1	tier1	-	no_errors	ENST00000426488	ensembl	human	known	74_37	missense	13.00	86	13	SNP	0.816	A	A	31072399	C	A	31072399	3	1	87	1	0	0	0	0	1	0	0	0	18123	623	22	3	13	3	ZNF668	16	31072399	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	96441	31072399	59282354	1510	24634											
ZNF646	9726	genome.wustl.edu	37	chr16	31090803	31090803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcagccccgccccttccGctgcaaccagtgtggcaaga	7	6	11	17	2	1	1	1	0	0	1	2	1	2	1	6	2	3	4	6	2	2	1	rs140829625		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31090803G>A	ENST00000394979.2	+	1	3581	c.3158G>A	c.(3157-3159)cGc>cAc	p.R1053H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1053H			O15015	ZN646_HUMAN	zinc finger protein 646	1053					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CGCCCCTTCCGCTGCAACCAG	0.622																																																	0								G	HIS/ARG	0,4394		0,0,2197	105	111	109		3158	3.5	1	16	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF646	NM_014699.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1053/1833	31090803	1,12993	2197	4300	6497	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3158G>A	16.37:g.31090803G>A	ENSP00000378429:p.Arg1053His		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1053H	ENST00000394979.2	37	c.3158		16	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709888	0.68730	0.0	1.16E-4	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.53857	0.6;0.6	5.75	3.45	0.39498	.	.	.	.	.	T	0.50905	0.1643	L	0.33710	1.025	0.09310	N	1	D	0.58620	0.983	P	0.53861	0.736	T	0.35001	-0.9806	9	0.59425	D	0.04	-2.61	7.549	0.27783	0.1775:0.1434:0.6792:0.0	.	1053	O15015-2	.	H	1053	ENSP00000300850:R1053H;ENSP00000378429:R1053H	ENSP00000300850:R1053H	R	+	2	0	ZNF646	30998304	0.002000	0.14202	1.000000	0.80357	0.990000	0.78478	0.572000	0.23684	1.404000	0.46819	0.563000	0.77884	CGC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.622	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	38	0	G	NM_014699		31090803	1	tier1	rs140829625	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.216	A	A	31090803	G	A	31090803	3	1	87	1	0	0	0	0	1	0	0	0	18110	1087	38	1	3160	1	ZNF646	16	31090803	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	18404	31090803	59263950	1511	24635											
BCKDK	10295	genome.wustl.edu	37	chr16	31120725	31120725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccagtcggccatcgacGcggcagcggagaaggtgcgc	10	3	15	13	6	0	1	0	0	0	1	2	3	0	1	2	4	3	1	2	4	2	0	rs73530211	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:31120725G>A	ENST00000394951.1	+	3	804	c.181G>A	c.(181-183)Gcg>Acg	p.A61T	AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000287507.3_Missense_Mutation_p.A61T|BCKDK_ENST00000219794.6_Missense_Mutation_p.A61T|BCKDK_ENST00000394950.3_Missense_Mutation_p.A61T			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	61					branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						GGCCATCGACGCGGCAGCGGA	0.672																																																	0													26	27	27					16																	31120725		2197	4300	6497	SO:0001583	missense	0			AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.181G>A	16.37:g.31120725G>A	ENSP00000378405:p.Ala61Thr		A8MY43|Q6FGL4|Q96G95|Q96IN5	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C	p.A61T	ENST00000394951.1	37	c.181	CCDS10705.1	16	.	.	.	.	.	.	.	.	.	.	G	8.579	0.881856	0.17467	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.55052	0.55;0.55;0.54;0.54	5.54	4.57	0.56435	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (1);	0.564404	0.19002	N	0.125327	T	0.30696	0.0773	N	0.14661	0.345	0.25602	N	0.98659	B;B	0.15473	0.013;0.008	B;B	0.08055	0.003;0.003	T	0.16512	-1.0400	10	0.14252	T	0.57	0.0262	8.1881	0.31352	0.0799:0.0:0.7613:0.1588	.	61;61	Q96G95;O14874	.;BCKD_HUMAN	T	61	ENSP00000378405:A61T;ENSP00000219794:A61T;ENSP00000378404:A61T;ENSP00000287507:A61T	ENSP00000219794:A61T	A	+	1	0	BCKDK	31028226	0.184000	0.23200	0.985000	0.45067	0.150000	0.21749	2.200000	0.42724	1.296000	0.44742	0.655000	0.94253	GCG	BCKDK	-	NULL	ENSG00000103507		0.672	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCKDK	HGNC	protein_coding	OTTHUMT00000108514.1	-	0	67	0	G	NM_005881		31120725	1	tier1	-	no_errors	ENST00000219794	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.941	A	A	31120725	G	A	31120725	3	1	87	1	0	0	0	0	1	0	0	0	1362	1087	38	1	183	1	BCKDK	16	31120725	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	29922	31120725	59234028	1512	24636											
ABCC11	85320	genome.wustl.edu	37	chr16	48264360	48264360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcacctcggcttgggaCggaagggaatcatggttctc	8	9	14	10	2	3	0	2	0	1	0	5	4	3	4	1	6	0	2	1	6	2	2	rs148400454	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:48264360C>T	ENST00000394747.1	-	2	573	c.224G>A	c.(223-225)cGt>cAt	p.R75H	ABCC11_ENST00000353782.5_Missense_Mutation_p.R75H|ABCC11_ENST00000537808.1_Missense_Mutation_p.R75H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R75H|ABCC11_ENST00000394748.1_Missense_Mutation_p.R75H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	75					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CGGCTTGGGACGGAAGGGAAT	0.587																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	3,4397	6.2+/-15.9	0,3,2197	91	83	86		224,224,224	3.9	0.9	16	dbSNP_134	86	0,8600		0,0,4300	yes	missense,missense,missense	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	29,29,29	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	75/1383,75/1383,75/1345	48264360	3,12997	2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.224G>A	16.37:g.48264360C>T	ENSP00000378230:p.Arg75His		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R75H	ENST00000394747.1	37	c.224	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787908	0.70337	6.82E-4	0.0	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.93133	-2.98;-2.88;-2.88;-2.88;-3.17	4.84	3.88	0.44766	.	0.061285	0.64402	D	0.000003	D	0.94245	0.8152	M	0.71581	2.175	0.37605	D	0.920704	B;D	0.76494	0.357;0.999	B;P	0.59056	0.072;0.851	D	0.93097	0.6505	10	0.27082	T	0.32	-12.2421	9.661	0.39954	0.0:0.9009:0.0:0.0991	.	75;75	Q96J66-2;Q96J66	.;ABCCB_HUMAN	H	75	ENSP00000311326:R75H;ENSP00000349017:R75H;ENSP00000378231:R75H;ENSP00000378230:R75H;ENSP00000438530:R75H	ENSP00000311326:R75H	R	-	2	0	ABCC11	46821861	0.073000	0.21202	0.942000	0.38095	0.605000	0.37080	0.012000	0.13287	2.231000	0.72958	0.591000	0.81541	CGT	ABCC11	-	NULL	ENSG00000121270		0.587	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0	76	0	C	NM_032583		48264360	-1	tier1	rs148400454	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	29.85	47	20	SNP	0.941	T	T	48264360	C	T	48264360	3	4	87	1	0	0	0	0	1	0	0	0	51	536	19	1	4036	1	ABCC11	16	48264360	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	17143635	48264360	42090393	1513	24637											
CBLN1	869	genome.wustl.edu	37	chr16	49315200	49315200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagaaagccaccttggcGctgccagagcgcacagagat	12	4	13	12	2	0	3	0	0	0	3	0	5	0	3	3	1	3	3	3	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:49315200G>A	ENST00000219197.6	-	1	542	c.177C>T	c.(175-177)agC>agT	p.S59S	CBLN1_ENST00000536749.1_Silent_p.S59S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	59	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				CCACCTTGGCGCTGCCAGAGC	0.612																																																	0													52	53	53					16																	49315200		2200	4300	6500	SO:0001819	synonymous_variant	0			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.177C>T	16.37:g.49315200G>A			B2RAN9|P02682|Q52M09	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.S59	ENST00000219197.6	37	c.177	CCDS10736.1	16																																																																																			CBLN1	-	smart_C1q,pfscan_C1q	ENSG00000102924		0.612	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	-	0	54	0	G	NM_004352		49315200	-1	tier1	-	no_errors	ENST00000219197	ensembl	human	known	74_37	silent	13.89	62	10	SNP	1.000	A	A	49315200	G	A	49315200	2	1	87	1	0	0	0	0	0	0	0	1	2711	1078	38	1		1	CBLN1	16	49315200	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1050840	49315200	41039553	1514	24638											
ZNF423	23090	genome.wustl.edu	37	chr16	49669799	49669799	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcgcagaggccgtaGggcagcccattgacgtcaag	9	4	15	13	4	1	2	1	1	0	1	1	2	1	2	3	3	2	3	3	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:49669799G>T	ENST00000561648.1	-	4	3317	c.3264C>A	c.(3262-3264)ccC>ccA	p.P1088P	ZNF423_ENST00000562871.1_Silent_p.P1028P|ZNF423_ENST00000562520.1_Silent_p.P1028P|ZNF423_ENST00000567169.1_Silent_p.P971P|ZNF423_ENST00000535559.1_Silent_p.P971P|ZNF423_ENST00000262383.2_Silent_p.P1088P|ZNF423_ENST00000563137.2_Silent_p.P1028P	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1088					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGAGGCCGTAGGGCAGCCCAT	0.697																																																	0													20	19	19					16																	49669799		2195	4299	6494	SO:0001819	synonymous_variant	0			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"Zinc fingers, C2H2-type"	16762	protein-coding gene	gene with protein product	"OLF-1/EBF associated zinc finger gene", " Smad- and Olf-interacting zinc finger protein", "early B-cell factor associated zinc finger protein"	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3264C>A	16.37:g.49669799G>T			O94860|Q76N04|Q9NZ13	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1088	ENST00000561648.1	37	c.3264	CCDS32445.1	16																																																																																			ZNF423	-	NULL	ENSG00000102935		0.697	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	-	0	53	0	G	NM_015069		49669799	-1	tier1	-	no_errors	ENST00000262383	ensembl	human	known	74_37	silent	9.09	70	7	SNP	1.000	T	T	49669799	G	T	49669799	2	4	87	1	0	0	0	0	0	0	0	1	17946	987	35	3		3	ZNF423	16	49669799	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	354599	49669799	40684954	1515	24639											
SNX20	124460	genome.wustl.edu	37	chr16	50707923	50707923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcgcgaagtcggaatagcgCcgttccaggacggccttgtt	7	10	13	11	6	0	0	0	0	0	0	3	3	1	2	3	3	1	2	3	3	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:50707923C>T	ENST00000330943.4	-	4	516	c.345G>A	c.(343-345)cgG>cgA	p.R115R	SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	115	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGGAATAGCGCCGTTCCAGGA	0.572																																																	0													70	65	67					16																	50707923		2198	4300	6498	SO:0001819	synonymous_variant	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.345G>A	16.37:g.50707923C>T			A8K9D5|Q08E98|Q6P4H2|Q8IV59	Silent	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R115	ENST00000330943.4	37	c.345	CCDS10745.1	16																																																																																			SNX20	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000167208		0.572	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	-	0	24	0	C	NM_153337		50707923	-1	tier1	-	no_errors	ENST00000330943	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.937	T	T	50707923	C	T	50707923	2	4	87	1	0	0	0	0	0	0	0	1	14937	726	26	3		3	SNX20	16	50707923	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1038124	50707923	39646830	1516	24640											
CYLD	1540	genome.wustl.edu	37	chr16	50826572	50826572	+	Frame_Shift_Del	DEL	T	T	-																															ctttaaactatttaaaaaaaTttttccttctctggaattaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:50826572delT	ENST00000427738.3	+	15	2511	c.2306delT	c.(2305-2307)attfs	p.I769fs	CYLD_ENST00000568704.2_Frame_Shift_Del_p.I584fs|CYLD_ENST00000540145.1_Frame_Shift_Del_p.I769fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.I766fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.I766fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000311559.9_Frame_Shift_Del_p.I769fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Frame_Shift_Del_p.I766fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.I766fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	769	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTTAAAAAAATTTTTCCTTCT	0.274			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													32	30	31					16																	50826572		1771	4036	5807	SO:0001589	frameshift_variant	0	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"ubiquitin specific peptidase like 2"	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2306delT	16.37:g.50826572delT	ENSP00000392025:p.Ile769fs		O94934|Q7L3N6|Q96EH0|Q9NZX9	Frame_Shift_Del	DEL	pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67	p.P771fs	ENST00000427738.3	37	c.2306	CCDS45482.1	16																																																																																			CYLD	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000083799		0.274	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2		0	46	0	T			50826572	1	tier1		no_errors	ENST00000311559	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	1.000	-	-	50826572	T	-	50826572	7	5	87	1	0	1	0	1	0	0	0	0	4152	1493	52	0	2360	0	CYLD	16	50826572	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	118649	50826572	39528181	1517	24641											
CHD9	80205	genome.wustl.edu	37	chr16	53276879	53276880	+	Frame_Shift_Ins	INS	-	-	A																															attgatgaagcacataggttINSaaaaaataaaaattgtaaac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:53276879_53276880insA	ENST00000398510.3	+	12	3092_3093	c.3005_3006insA	c.(3004-3009)ttaaaafs	p.LK1002fs	CHD9_ENST00000566029.1_Frame_Shift_Ins_p.LK1002fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.LK1002fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.LK1002fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1002	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCACATAGGTTAAAAAATAAAA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3011dupA	16.37:g.53276885_53276885dupA	ENSP00000381522:p.Leu1002fs		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.N1004fs	ENST00000398510.3	37	c.3005_3006		16																																																																																			CHD9	-	pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000177200		0.332	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0	25	0	-	NM_025134		53276880	1	tier1		no_errors	ENST00000398510	ensembl	human	known	74_37	frame_shift_ins	20.59	27	7	INS	1.000:1.000	A	A	53276880	-	A	53276879	7	5	87	1	0	1	1	0	0	0	0	0	3339	1764	61	0	3051	0	CHD9	16	53276879	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2450307	53276879	37077874	1518	24642											
RBL2	5934	genome.wustl.edu	37	chr16	53488648	53488648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatttcttggagaggatgCtgaggaggaaattgggactc	11	11	15	4	0	1	2	0	1	1	1	2	8	1	6	0	5	1	1	0	5	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:53488648C>T	ENST00000262133.6	+	8	1210	c.1073C>T	c.(1072-1074)gCt>gTt	p.A358V	RBL2_ENST00000544545.1_Missense_Mutation_p.A142V|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	358					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGAGAGGATGCTGAGGAGGAA	0.413																																																	0													128	126	127					16																	53488648		2198	4300	6498	SO:0001583	missense	0			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1073C>T	16.37:g.53488648C>T	ENSP00000262133:p.Ala358Val		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A358V	ENST00000262133.6	37	c.1073	CCDS10748.1	16	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667075	0.67814	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.90955	-2.76;-2.33;-2.03	5.5	5.5	0.81552	.	0.053009	0.85682	D	0.000000	D	0.90542	0.7036	L	0.60067	1.865	0.51482	D	0.999922	B;D;P;P	0.54964	0.404;0.969;0.864;0.635	B;P;B;B	0.48770	0.056;0.589;0.38;0.081	D	0.90969	0.4818	10	0.62326	D	0.03	-15.1844	12.7048	0.57054	0.0:0.9247:0.0:0.0753	.	142;358;68;358	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	V	358;284;68;142	ENSP00000262133:A358V;ENSP00000443744:A284V;ENSP00000444685:A142V	ENSP00000262133:A358V	A	+	2	0	RBL2	52046149	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.924000	0.70054	2.585000	0.87301	0.555000	0.69702	GCT	RBL2	-	NULL	ENSG00000103479		0.413	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL2	HGNC	protein_coding	OTTHUMT00000256908.3	-	0	88	0	C	NM_005611		53488648	1	tier1	-	no_errors	ENST00000262133	ensembl	human	known	74_37	missense	7.53	85	7	SNP	1.000	T	T	53488648	C	T	53488648	3	4	87	1	0	0	0	0	1	0	0	0	13155	797	28	3	1103	3	RBL2	16	53488648	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	211769	53488648	36866105	1519	24643											
CES7	221223	genome.wustl.edu	37	chr16	55909120	55909120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctggcctgggtgcaccCaattcccactcatttggctg	6	11	11	13	0	2	0	1	0	1	0	3	1	3	1	3	4	1	2	3	4	1	2	rs145811692		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:55909120C>A	ENST00000290567.9	-	1	135	c.14G>T	c.(13-15)tGg>tTg	p.W5L	CES5A_ENST00000518005.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.W5L|CES5A_ENST00000319165.9_Missense_Mutation_p.W5L|CES5A_ENST00000521992.1_Intron|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	5						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGGTGCACCCAATTCCCACT	0.557																																																	0													111	106	108					16																	55909120		2198	4300	6498	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"Carboxylesterases"	26459	protein-coding gene	gene with protein product			"carboxylesterase 7"	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.14G>T	16.37:g.55909120C>A	ENSP00000290567:p.Trp5Leu		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.W5L	ENST00000290567.9	37	c.14	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	4.601	0.111722	0.08831	.	.	ENSG00000159398	ENST00000319165;ENST00000290567;ENST00000520435	T;T;T	0.69175	-0.24;-0.16;-0.38	4.31	3.34	0.38264	.	0.000000	0.33075	N	0.005302	T	0.50240	0.1604	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.49263	-0.8958	10	0.59425	D	0.04	.	9.7907	0.40704	0.2044:0.7956:0.0:0.0	.	5;5	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	L	5	ENSP00000324271:W5L;ENSP00000290567:W5L;ENSP00000428887:W5L	ENSP00000290567:W5L	W	-	2	0	CES5A	54466621	0.002000	0.14202	0.282000	0.24776	0.021000	0.10359	0.514000	0.22786	1.389000	0.46526	0.650000	0.86243	TGG	CES5A	-	NULL	ENSG00000159398		0.557	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	-	0	46	0	C	NM_145024		55909120	-1	tier1	-	no_errors	ENST00000290567	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.310	A	A	55909120	C	A	55909120	3	1	87	1	0	0	0	0	1	0	0	0	3279	595	21	3	1765	3	CES7	16	55909120	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2420472	55909120	34445633	1520	24644											
NUP93	9688	genome.wustl.edu	37	chr16	56865798	56865798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccggctgcattaccgtaGggccctcaggaacaatacag	10	7	11	13	2	1	0	1	0	0	0	2	1	2	1	3	3	4	4	3	3	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:56865798G>T	ENST00000308159.5	+	11	1251	c.1130G>T	c.(1129-1131)aGg>aTg	p.R377M	NUP93_ENST00000569842.1_Missense_Mutation_p.R377M|NUP93_ENST00000564887.1_Missense_Mutation_p.R254M|NUP93_ENST00000542526.1_Missense_Mutation_p.R254M	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	377					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATTACCGTAGGGCCCTCAGG	0.488																																					Colon(33;610 796 1305 1705 38917)												0													100	89	93					16																	56865798		2198	4300	6498	SO:0001583	missense	0			D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1130G>T	16.37:g.56865798G>T	ENSP00000310668:p.Arg377Met		B3KPQ8|Q14705	Missense_Mutation	SNP	pfam_Nucleoporin_int_Nup93/Nic96	p.R377M	ENST00000308159.5	37	c.1130	CCDS10769.1	16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196334	0.78902	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.46451	0.87;0.87	5.93	4.97	0.65823	.	0.094388	0.64402	D	0.000001	T	0.62109	0.2401	M	0.77820	2.39	0.58432	D	0.999999	D	0.61080	0.989	P	0.60068	0.868	T	0.67806	-0.5575	10	0.66056	D	0.02	-19.1671	14.8454	0.70257	0.0:0.0:0.8561:0.1439	.	377	Q8N1F7	NUP93_HUMAN	M	377;254	ENSP00000310668:R377M;ENSP00000440235:R254M	ENSP00000310668:R377M	R	+	2	0	NUP93	55423299	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	9.813000	0.99286	1.509000	0.48786	-0.181000	0.13052	AGG	NUP93	-	pfam_Nucleoporin_int_Nup93/Nic96	ENSG00000102900		0.488	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP93	HGNC	protein_coding	OTTHUMT00000257058.4	-	0	36	0	G	NM_014669		56865798	1	tier1	-	no_errors	ENST00000308159	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T	T	56865798	G	T	56865798	3	4	87	1	0	0	0	0	1	0	0	0	10811	1000	35	3	1168	3	NUP93	16	56865798	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	956678	56865798	33488955	1521	24645											
CETP	1071	genome.wustl.edu	37	chr16	56996989	56996989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacccagatatcacgggCgagaaggccatgatgctcct	11	7	11	12	2	1	3	1	1	0	2	2	4	2	3	3	2	3	2	3	2	3	2	rs376596539		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:56996989C>T	ENST00000200676.3	+	2	316	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CETP_ENST00000379780.2_Silent_p.G62G|CETP_ENST00000566128.1_5'UTR|CETP_ENST00000569082.1_3'UTR	NM_000078.2	NP_000069.2			cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						ATATCACGGGCGAGAAGGCCA	0.617																																																	0								C		0,4396		0,0,2198	107	78	88		186	-6.7	0	16		88	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CETP	NM_000078.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		62/494	56996989	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"BPI fold containing"	1869	protein-coding gene	gene with protein product	"BPI fold containing family F"	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000200676.3:c.186C>T	16.37:g.56996989C>T				Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.G62	ENST00000200676.3	37	c.186	CCDS10772.1	16																																																																																			CETP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,pirsf_Cholesteryl_ester_transfer	ENSG00000087237		0.617	CETP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000257059.1	-	0	47	0	C	NM_000078		56996989	1	tier1	-	no_errors	ENST00000200676	ensembl	human	known	74_37	silent	14.29	42	7	SNP	0.004	T	T	56996989	C	T	56996989	2	4	87	1	0	0	0	0	0	0	0	1	3284	755	27	1		1	CETP	16	56996989	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	131191	56996989	33357764	1522	24646											
TEPP	374739	genome.wustl.edu	37	chr16	58010398	58010398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcattgtctgtgcacaatGttcctttattctgctgctgt	5	17	10	9	0	2	0	0	0	2	0	3	0	3	0	1	1	3	5	1	1	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:58010398G>A	ENST00000441824.2	+	1	60	c.23G>A	c.(22-24)tGt>tAt	p.C8Y	TEPP_ENST00000290871.5_Missense_Mutation_p.C8Y	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	8						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						TGTGCACAATGTTCCTTTATT	0.498																																																	0													248	187	208					16																	58010398		2198	4300	6498	SO:0001583	missense	0			BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.23G>A	16.37:g.58010398G>A	ENSP00000401917:p.Cys8Tyr		Q6URK7	Missense_Mutation	SNP	NULL	p.C8Y	ENST00000441824.2	37	c.23	CCDS45496.1	16	.	.	.	.	.	.	.	.	.	.	G	7.987	0.752441	0.15778	.	.	ENSG00000159648	ENST00000290871;ENST00000441824	T;T	0.52295	0.67;0.74	3.91	-0.447	0.12234	.	.	.	.	.	T	0.23094	0.0558	N	0.08118	0	0.09310	N	0.999994	B;B	0.11235	0.004;0.004	B;B	0.08055	0.002;0.003	T	0.18618	-1.0331	9	0.87932	D	0	2.4783	3.2075	0.06671	0.2059:0.0:0.4322:0.362	.	8;8	Q6URK8;Q6URK8-2	TEPP_HUMAN;.	Y	8	ENSP00000290871:C8Y;ENSP00000401917:C8Y	ENSP00000290871:C8Y	C	+	2	0	TEPP	56567899	0.032000	0.19561	0.079000	0.20413	0.289000	0.27227	0.384000	0.20668	-0.026000	0.13895	-0.149000	0.13747	TGT	TEPP	-	NULL	ENSG00000159648		0.498	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEPP	HGNC	protein_coding	OTTHUMT00000431966.1	-	0	67	0	G	NM_199456		58010398	1	tier1	-	no_errors	ENST00000290871	ensembl	human	known	74_37	missense	15.22	39	7	SNP	0.082	A	A	58010398	G	A	58010398	3	1	87	1	0	0	0	0	1	0	0	0	15807	1377	48	3	25	3	TEPP	16	58010398	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1013409	58010398	32344355	1523	24647											
SETD6	79918	genome.wustl.edu	37	chr16	58550438	58550440	+	In_Frame_Del	DEL	AGA	AGA	-																															aggcgtacctgaggccgtggAgaaggatttggccaacatcc																								rs370929550		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:58550438_58550440delAGA	ENST00000219315.4	+	4	583_585	c.533_535delAGA	c.(532-537)gagaag>gag	p.K179del	SETD6_ENST00000394266.4_Intron|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_In_Frame_Del_p.K155del			Q8TBK2	SETD6_HUMAN	SET domain containing 6	179	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAGGCCGTGGAGAAGGATTTGGC	0.616																																																	0									,	2,4262		1,0,2131					,	4.4	1			107	1,8253		0,1,4126	no	coding,coding	SETD6	NM_024860.2,NM_001160305.1	,	1,1,6257	A1A1,A1R,RR		0.0121,0.0469,0.024	,	,		3,12515				SO:0001651	inframe_deletion	0			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.533_535delAGA	16.37:g.58550438_58550440delAGA	ENSP00000219315:p.Lys179del		A8K380|B5ME38|Q9H787	In_Frame_Del	DEL	pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase	p.K179in_frame_del	ENST00000219315.4	37	c.533_535	CCDS54013.1	16																																																																																			SETD6	-	pfam_SET_dom,pirsf_RuBisCo-cyt_methylase	ENSG00000103037		0.616	SETD6-003	KNOWN	basic|CCDS	protein_coding	SETD6	HGNC	protein_coding	OTTHUMT00000317274.2		0	61	0	AGA	NM_024860		58550440	1	tier1		no_errors	ENST00000219315	ensembl	human	known	74_37	in_frame_del	21.95	32	9	DEL	1.000:0.998:1.000	-	-	58550440	AGA	-	58550438	7	5	87	1	0	1	0	1	0	0	0	0	14180	304	11	0	547	0	SETD6	16	58550438	In_Frame_Del	DEL	AGA	TCGA-L5-A8NM-01A-11D-A37C-09	540040	58550438	31804315	1524	24648											
CNOT1	23019	genome.wustl.edu	37	chr16	58559970	58559970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaatccaaatcctttttgaActgaggtggcattactccag	11	12	9	9	0	0	2	0	2	0	0	3	3	3	3	3	3	2	1	3	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:58559970A>G	ENST00000317147.5	-	45	6858	c.6526T>C	c.(6526-6528)Ttc>Ctc	p.F2176L	CNOT1_ENST00000569240.1_Missense_Mutation_p.F2171L|CNOT1_ENST00000245138.4_Missense_Mutation_p.F1027L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2176					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCTTTTTGAACTGAGGTGGC	0.418																																																	0													158	154	155					16																	58559970		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.6526T>C	16.37:g.58559970A>G	ENSP00000320949:p.Phe2176Leu		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.F2176L	ENST00000317147.5	37	c.6526	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893456	0.72639	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000546037;ENST00000245138	T	0.35236	1.32	5.92	5.92	0.95590	CCR4-Not complex component, Not1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.22085	0.0532	N	0.12920	0.275	0.80722	D	1	B;B;B	0.26775	0.15;0.047;0.159	B;B;B	0.29942	0.039;0.042;0.109	T	0.06643	-1.0815	10	0.02654	T	1	-11.8458	15.5467	0.76108	1.0:0.0:0.0:0.0	.	1027;2176;2171	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	2176;870;181;1027	ENSP00000320949:F2176L	ENSP00000245138:F1027L	F	-	1	0	CNOT1	57117471	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.110000	0.94302	2.257000	0.74773	0.455000	0.32223	TTC	CNOT1	-	pfam_CCR4-Not_Not1_C	ENSG00000125107		0.418	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	41	0	A	NM_016284		58559970	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	G	G	58559970	A	G	58559970	3	3	87	1	0	0	0	0	1	0	0	0	3624	43	2	4	624	4	CNOT1	16	58559970	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	9532	58559970	31794783	1525	24649											
CDH11	1009	genome.wustl.edu	37	chr16	65038589	65038589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgtactcctctatcaCgaagaactggttccagaccc	9	9	8	15	2	2	2	1	0	1	2	4	3	4	2	4	2	2	2	4	2	4	3	rs556647809		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:65038589C>T	ENST00000268603.4	-	3	799	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000394156.3_Missense_Mutation_p.V62M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCCTCTATCACGAAGAACTGG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													62	48	53					16																	65038589		2202	4300	6502	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.184G>A	16.37:g.65038589C>T	ENSP00000268603:p.Val62Met		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V62M	ENST00000268603.4	37	c.184	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623522	0.87460	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.00527	6.79;6.79	5.62	5.62	0.85841	Cadherin-like (1);	0.058930	0.64402	D	0.000002	T	0.02970	0.0088	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.918;1.0	T	0.23440	-1.0188	10	0.87932	D	0	.	18.6407	0.91394	0.0:1.0:0.0:0.0	.	62;62	P55287-2;P55287	.;CAD11_HUMAN	M	62	ENSP00000268603:V62M;ENSP00000377711:V62M	ENSP00000268603:V62M	V	-	1	0	CDH11	63596090	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	4.620000	0.61226	2.662000	0.90505	0.591000	0.81541	GTG	CDH11	-	superfamily_Cadherin-like	ENSG00000140937		0.612	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	53	0	C	NM_033664		65038589	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	11.11	56	7	SNP	1.000	T	T	65038589	C	T	65038589	3	4	87	1	0	0	0	0	1	0	0	0	3104	536	19	1	2250	1	CDH11	16	65038589	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6478619	65038589	25316164	1526	24650											
CMTM1	113540	genome.wustl.edu	37	chr16	66612868	66612868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccaaggacgcctacccCgaaaccggccccgacgcccc	8	1	9	23	6	0	0	0	0	0	0	0	3	0	1	10	2	2	0	10	2	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:66612868C>T	ENST00000457188.2	+	4	595	c.474C>T	c.(472-474)ccC>ccT	p.P158P	CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CMTM1_ENST00000336328.6_Silent_p.P105P|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000533953.1_Silent_p.P227P|CMTM2_ENST00000379486.2_5'Flank|CMTM1_ENST00000332695.7_Silent_p.P111P|RP11-403P17.2_ENST00000568430.1_RNA|CMTM2_ENST00000268595.2_5'Flank|CKLF-CMTM1_ENST00000527729.1_Silent_p.P104P|CMTM1_ENST00000529506.1_Silent_p.P59P|CMTM1_ENST00000379500.2_Silent_p.P275P|CMTM1_ENST00000528324.1_3'UTR	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	158					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		ACGCCTACCCCGAAACCGGCC	0.632																																																	0													68	70	69					16																	66612868		2201	4300	6501	SO:0001819	synonymous_variant	0			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"chemokine-like factor super family 1", "chemokine-like factor superfamily 1"	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.474C>T	16.37:g.66612868C>T			Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	NULL	p.P111	ENST00000457188.2	37	c.333	CCDS45503.1	16																																																																																			CMTM1	-	NULL	ENSG00000089505		0.632	CMTM1-015	NOVEL	basic|CCDS	protein_coding	CMTM1	HGNC	protein_coding	OTTHUMT00000390261.2	-	0	39	0	C	NM_052999		66612868	1	tier1	-	no_errors	ENST00000332695	ensembl	human	known	74_37	silent	20.51	31	8	SNP	0.000	T	T	66612868	C	T	66612868	2	4	87	1	0	0	0	0	0	0	0	1	3589	639	23	1		1	CMTM1	16	66612868	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1574279	66612868	23741885	1527	24651											
RRAD	6236	genome.wustl.edu	37	chr16	66957796	66957796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcctcttctccgtccaCtacaatggagcgatcatagg	9	11	9	12	2	3	1	1	1	2	0	5	3	4	2	3	2	3	0	3	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:66957796C>T	ENST00000299759.6	-	3	647	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	RRAD_ENST00000420652.1_Missense_Mutation_p.V133M			P55042	RAD_HUMAN	Ras-related associated with diabetes	133					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TCTCCGTCCACTACAATGGAG	0.567																																																	0													207	194	198					16																	66957796		2200	4300	6500	SO:0001583	missense	0			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.397G>A	16.37:g.66957796C>T	ENSP00000299759:p.Val133Met		Q96F39	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V133M	ENST00000299759.6	37	c.397	CCDS10824.1	16	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060093	0.76074	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.79141	-1.24;-1.24	4.11	4.11	0.48088	Small GTP-binding protein domain (1);	0.126808	0.52532	D	0.000072	D	0.89543	0.6745	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.64776	0.929	D	0.92387	0.5918	10	0.87932	D	0	.	16.5253	0.84329	0.0:1.0:0.0:0.0	.	133	P55042	RAD_HUMAN	M	133	ENSP00000388744:V133M;ENSP00000299759:V133M	ENSP00000299759:V133M	V	-	1	0	RRAD	65515297	1.000000	0.71417	0.965000	0.40720	0.638000	0.38207	7.374000	0.79633	2.294000	0.77228	0.561000	0.74099	GTG	RRAD	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000166592		0.567	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAD	HGNC	protein_coding	OTTHUMT00000268830.1	-	0	42	0	C	NM_004165		66957796	-1	tier1	-	no_errors	ENST00000299759	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	T	T	66957796	C	T	66957796	3	4	87	1	0	0	0	0	1	0	0	0	13716	565	20	3	541	3	RRAD	16	66957796	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	344928	66957796	23396957	1528	24652											
CES2	8824	genome.wustl.edu	37	chr16	66977773	66977773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgagggtctgccacactggCcgctgttcgaccaggaggag	7	6	16	12	3	1	0	0	0	1	0	2	4	1	2	3	4	1	2	3	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:66977773C>T	ENST00000317091.4	+	12	2701	c.1717C>T	c.(1717-1719)Ccg>Tcg	p.P573S	CES2_ENST00000417689.1_Missense_Mutation_p.P557S|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	509					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	GCCACACTGGCCGCTGTTCGA	0.632																																					Ovarian(70;1230 1691 37888 38351)												0													45	43	44					16																	66977773		2200	4300	6500	SO:0001583	missense	0			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"Carboxylesterases"	1864	protein-coding gene	gene with protein product		605278	"carboxylesterase 2 (intestine, liver)"			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.1717C>T	16.37:g.66977773C>T	ENSP00000317842:p.Pro573Ser		A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.P573S	ENST00000317091.4	37	c.1717	CCDS10825.1	16	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640262	0.67244	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.59906	0.23;0.23	4.98	4.98	0.66077	Carboxylesterase, type B (1);	0.000000	0.47852	D	0.000206	T	0.79741	0.4498	M	0.88906	2.99	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83749	0.0208	10	0.87932	D	0	.	15.8571	0.78987	0.0:1.0:0.0:0.0	.	509;573	O00748;A8K367	EST2_HUMAN;.	S	557;573	ENSP00000394452:P557S;ENSP00000317842:P573S	ENSP00000317842:P573S	P	+	1	0	CES2	65535274	1.000000	0.71417	0.998000	0.56505	0.082000	0.17680	6.303000	0.72794	2.587000	0.87381	0.650000	0.86243	CCG	CES2	-	pfam_CarbesteraseB	ENSG00000172831		0.632	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES2	HGNC	protein_coding	OTTHUMT00000268838.2	-	0	97	0	C	NM_003869		66977773	1	tier1	-	no_errors	ENST00000317091	ensembl	human	known	74_37	missense	10.38	95	11	SNP	1.000	T	T	66977773	C	T	66977773	3	4	87	1	0	0	0	0	1	0	0	0	3277	739	26	3	1763	3	CES2	16	66977773	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	19977	66977773	23376980	1529	24653											
CTRL	1506	genome.wustl.edu	37	chr16	67965003	67965003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctctggtggtgtacctGcagggacacctgccagggcc	6	7	13	15	0	1	0	0	0	1	0	1	1	1	1	6	4	3	2	6	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:67965003G>A	ENST00000574481.1	-	2	715	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	CTRL_ENST00000576408.1_Intron|CTC-479C5.12_ENST00000573493.1_Intron	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	52	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		TGGTGTACCTGCAGGGACACC	0.637																																																	0													70	59	63					16																	67965003		2198	4300	6498	SO:0001587	stop_gained	0				CCDS10852.1	16q22.1	2008-02-05			ENSG00000141086	ENSG00000141086			2524	protein-coding gene	gene with protein product		118888				8268911	Standard	NM_001907		Approved		uc002euw.3	P40313	OTTHUMG00000137552	ENST00000574481.1:c.154C>T	16.37:g.67965003G>A	ENSP00000458537:p.Gln52*			Nonsense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q52*	ENST00000574481.1	37	c.154	CCDS10852.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.596422	0.98381	.	.	ENSG00000141086	ENST00000319955	.	.	.	5.37	3.29	0.37713	.	0.633406	0.15370	U	0.265890	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.8771	0.41211	0.0725:0.0:0.7888:0.1387	.	.	.	.	X	52	.	ENSP00000322629:Q52X	Q	-	1	0	CTRL	66522504	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	6.208000	0.72165	1.271000	0.44313	0.655000	0.94253	CAG	CTRL	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000141086		0.637	CTRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTRL	HGNC	protein_coding	OTTHUMT00000268886.3	-	0	52	0	G			67965003	-1	tier1	-	no_errors	ENST00000574481	ensembl	human	known	74_37	nonsense	25.00	48	16	SNP	1.000	A	A	67965003	G	A	67965003	4	1	87	1	0	0	0	0	0	1	0	0	4037	1328	46	3	664	3	CTRL	16	67965003	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	987230	67965003	22389750	1530	24654											
TMCO7	79613	genome.wustl.edu	37	chr16	68894134	68894134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagaagactgtccagttcGttttgcagtttgtagttacc	10	14	9	8	1	0	2	0	0	0	2	2	2	1	2	2	0	3	6	2	0	4	6	rs201171315		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:68894134G>A	ENST00000261778.1	+	2	454	c.442G>A	c.(442-444)Gtt>Att	p.V148I		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	148						integral component of membrane (GO:0016021)											TGTCCAGTTCGTTTTGCAGTT	0.478																																																	0													219	205	210					16																	68894134		1968	4172	6140	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.442G>A	16.37:g.68894134G>A	ENSP00000261778:p.Val148Ile		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.V148I	ENST00000261778.1	37	c.442	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354288	0.24512	.	.	ENSG00000103047	ENST00000261778	T	0.68903	-0.36	5.23	4.27	0.50696	.	.	.	.	.	T	0.57695	0.2071	L	0.50333	1.59	0.09310	N	1	B	0.31790	0.34	B	0.22152	0.038	T	0.44003	-0.9356	9	0.27785	T	0.31	-0.2268	12.91	0.58175	0.0802:0.0:0.9198:0.0	.	148	Q9C0B7	TMCO7_HUMAN	I	148	ENSP00000261778:V148I	ENSP00000261778:V148I	V	+	1	0	TMCO7	67451635	0.861000	0.29849	0.005000	0.12908	0.538000	0.34931	5.037000	0.64170	1.208000	0.43306	-0.291000	0.09656	GTT	TANGO6	-	NULL	ENSG00000103047		0.478	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2	-	0	47	0	G	XM_928235.2		68894134	1	tier1	rs201171315	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	13.64	57	9	SNP	0.057	A	A	68894134	G	A	68894134	3	1	87	1	0	0	0	0	1	0	0	0	16048	1145	40	1	448	1	TMCO7	16	68894134	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	929131	68894134	21460619	1531	24655											
HAS3	54921	genome.wustl.edu	37	chr16	69152342	69152342	+	3'UTR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcatggtccgttcaccaaCgccacgtttctagagagcag	11	8	10	12	3	2	1	1	0	1	1	3	2	3	1	3	1	3	4	3	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69152342C>T	ENST00000448552.2	-	0	2473				CHTF8_ENST00000523421.1_3'UTR|HAS3_ENST00000219322.3_Missense_Mutation_p.R275C|CHTF8_ENST00000518041.1_3'UTR|CHTF8_ENST00000306585.6_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CGTTCACCAACGCCACGTTTC	0.547																																																	0													120	93	102					16																	69152342		2198	4300	6498	SO:0001624	3_prime_UTR_variant	0				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*1986G>A	16.37:g.69152342C>T			A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	NULL	p.R275C	ENST00000448552.2	37	c.823	CCDS42185.1	16	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348146	0.24426	.	.	ENSG00000103044	ENST00000219322	T	0.50548	0.74	5.97	-4.24	0.03777	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38351	-0.9665	8	0.87932	D	0	.	13.8276	0.63359	0.0:0.686:0.0:0.314	.	275	O00219-2	.	C	275	ENSP00000219322:R275C	ENSP00000219322:R275C	R	+	1	0	HAS3	67709843	0.000000	0.05858	0.000000	0.03702	0.579000	0.36224	-0.702000	0.05069	-0.688000	0.05155	-0.150000	0.13652	CGC	HAS3	-	NULL	ENSG00000103044		0.547	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000376352.2	-	0	72	0	C	NM_017804		69152342	1	tier1	-	no_errors	ENST00000219322	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.000	T	T	69152342	C	T	69152342	1	4	87	0	1	0	0	0	0	0	0	0	6990	536	19	1		1	HAS3	16	69152342	3'UTR	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	258208	69152342	21202411	1532	24656											
VPS4A	27183	genome.wustl.edu	37	chr16	69353432	69353432	+	Frame_Shift_Del	DEL	G	G	-																															gatctgatgtccaagtggctGggggagagtgaaaagtaagt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69353432delG	ENST00000254950.11	+	6	762	c.606delG	c.(604-606)ctgfs	p.L202fs	RP11-343C2.11_ENST00000570054.2_Frame_Shift_Del_p.L226fs|COG8_ENST00000564419.1_5'Flank	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CCAAGTGGCTGGGGGAGAGTG	0.597																																																	0													33	36	35					16																	69353432		2082	4222	6304	SO:0001589	frameshift_variant	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.606delG	16.37:g.69353432delG	ENSP00000254950:p.Leu202fs			Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.E204fs	ENST00000254950.11	37	c.606	CCDS45517.1	16																																																																																			VPS4A	-	pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000132612		0.597	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3		0	32	0	G	NM_013245		69353432	1	tier1		no_errors	ENST00000254950	ensembl	human	known	74_37	frame_shift_del	11.43	31	4	DEL	1.000	-	-	69353432	G	-	69353432	7	5	87	1	0	1	0	1	0	0	0	0	17261	1335	47	0	628	0	VPS4A	16	69353432	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	201090	69353432	21001321	1533	24657											
VPS4A	27183	genome.wustl.edu	37	chr16	69355062	69355062	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggatgcaaacatccaCgagctggcccggaagacgga	12	4	12	13	4	1	1	1	0	0	1	2	5	2	4	2	4	3	2	2	4	2	0	rs369039396	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69355062C>T	ENST00000254950.11	+	9	1116	c.960C>T	c.(958-960)caC>caT	p.H320H	VPS4A_ENST00000564399.1_3'UTR|COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				CAAACATCCACGAGCTGGCCC	0.612													C|||	12	0.00239617	0.0076	0.0014	5008	,	,		17726	0		0.001	False		,,,				2504	0																0								C		35,4325		0,35,2145	22	26	24		960	-11	0.1	16		24	0,8570		0,0,4285	no	coding-synonymous	VPS4A	NM_013245.2		0,35,6430	TT,TC,CC		0.0,0.8028,0.2707		320/438	69355062	35,12895	2180	4285	6465	SO:0001819	synonymous_variant	0			AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"ATPases / AAA-type"	13488	protein-coding gene	gene with protein product		609982	"vacuolar protein sorting 4A (yeast homolog)", "vacuolar protein sorting 4A (yeast)"			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.960C>T	16.37:g.69355062C>T				Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.H320	ENST00000254950.11	37	c.960	CCDS45517.1	16																																																																																			VPS4A	-	superfamily_P-loop_NTPase	ENSG00000132612		0.612	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4A	HGNC	protein_coding	OTTHUMT00000430563.3	-	0	66	0	C	NM_013245		69355062	1	tier1	-	no_errors	ENST00000254950	ensembl	human	known	74_37	silent	24.56	43	14	SNP	0.006	T	T	69355062	C	T	69355062	2	4	87	1	0	0	0	0	0	0	0	1	17261	535	19	1		1	VPS4A	16	69355062	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1630	69355062	20999691	1534	24658											
WWP2	11060	genome.wustl.edu	37	chr16	69921970	69921971	+	Frame_Shift_Ins	INS	-	-	C																															aacccacaacagccactgatINScccgaagaaccttccgttgt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:69921970_69921971insC	ENST00000359154.2	+	8	833_834	c.732_733insC	c.(733-735)cccfs	p.P245fs	WWP2_ENST00000542271.1_Frame_Shift_Ins_p.P129fs|WWP2_ENST00000356003.2_Frame_Shift_Ins_p.P245fs|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Frame_Shift_Ins_p.P245fs|WWP2_ENST00000569174.1_Frame_Shift_Ins_p.P245fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	245					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCCACTGATCCCGAAGAACC	0.47																																																	0																																										SO:0001589	frameshift_variant	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.735dupC	16.37:g.69921973_69921973dupC	ENSP00000352069:p.Pro245fs		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Frame_Shift_Ins	INS	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.E245fs	ENST00000359154.2	37	c.732_733	CCDS10885.1	16																																																																																			WWP2	-	NULL	ENSG00000198373		0.47	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1		0	83	0	-	NM_007014		69921971	1	tier1		no_errors	ENST00000356003	ensembl	human	known	74_37	frame_shift_ins	22.78	61	18	INS	0.900:0.891	C	C	69921971	-	C	69921970	7	5	87	1	0	1	1	0	0	0	0	0	17465	1432	50	0	758	0	WWP2	16	69921970	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	566908	69921970	20432783	1535	24659											
ST3GAL2	6483	genome.wustl.edu	37	chr16	70415756	70415756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtcggccccgaacccgtAcacgttcacctgcggggaag	7	6	13	15	5	1	0	1	0	0	0	2	2	1	1	4	3	3	3	4	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:70415756A>G	ENST00000393640.4	-	6	2996	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.Y297H			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	297					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CCGAACCCGTACACGTTCACC	0.701																																																	0													62	61	62					16																	70415756		2198	4300	6498	SO:0001583	missense	0			U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"Sialyltransferases"	10863	protein-coding gene	gene with protein product		607188	"sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.889T>C	16.37:g.70415756A>G	ENSP00000377257:p.Tyr297His		O00654	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.Y297H	ENST00000393640.4	37	c.889	CCDS10890.1	16	.	.	.	.	.	.	.	.	.	.	A	33	5.255255	0.95336	.	.	ENSG00000157350	ENST00000342907;ENST00000393640	T;T	0.40476	1.03;1.03	6.08	6.08	0.98989	.	0.143879	0.64402	D	0.000007	T	0.54647	0.1871	M	0.88377	2.95	0.47245	D	0.999363	B	0.16802	0.019	B	0.20184	0.028	T	0.57370	-0.7823	10	0.87932	D	0	-20.827	16.6512	0.85203	1.0:0.0:0.0:0.0	.	297	Q16842	SIA4B_HUMAN	H	297	ENSP00000345477:Y297H;ENSP00000377257:Y297H	ENSP00000345477:Y297H	Y	-	1	0	ST3GAL2	68973257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.204000	0.95041	2.333000	0.79357	0.482000	0.46254	TAC	ST3GAL2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000157350		0.701	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL2	HGNC	protein_coding	OTTHUMT00000268968.1	-	0	57	0	A	NM_006927		70415756	-1	tier1	-	no_errors	ENST00000342907	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	G	G	70415756	A	G	70415756	3	3	87	1	0	0	0	0	1	0	0	0	15262	391	14	4	167	4	ST3GAL2	16	70415756	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	493786	70415756	19938997	1536	24660											
ZNF23	7571	genome.wustl.edu	37	chr16	71482629	71482629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagatgctgccgaaattgGgagttacatctgaaggcttt	10	12	11	8	1	2	2	1	1	1	1	2	4	2	3	1	2	3	3	1	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:71482629G>A	ENST00000393539.2	-	6	2112	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	ZNF23_ENST00000357254.4_Silent_p.S433S|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000417828.1_Silent_p.S433S|ZNF23_ENST00000497160.1_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Silent_p.S375S|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Silent_p.S375S	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GCCGAAATTGGGAGTTACATC	0.468																																																	0													60	59	59					16																	71482629		2198	4300	6498	SO:0001819	synonymous_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1299C>T	16.37:g.71482629G>A			Q8NDP5|Q96IT3|Q9UG42	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S433	ENST00000393539.2	37	c.1299	CCDS10900.1	16																																																																																			ZNF23	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.468	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	0	77	0	G	NM_145911		71482629	-1	tier1	-	no_errors	ENST00000357254	ensembl	human	known	74_37	silent	34.21	50	26	SNP	0.001	A	A	71482629	G	A	71482629	2	1	87	1	0	0	0	0	0	0	0	1	17831	1219	43	3		3	ZNF23	16	71482629	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1066873	71482629	18872124	1537	24661											
DHODH	1723	genome.wustl.edu	37	chr16	72057170	72057170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtgggaagcccctccGggatttatcaactcaaacca	11	8	10	12	1	2	1	2	1	0	0	3	3	3	3	4	2	3	1	4	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:72057170G>A	ENST00000219240.4	+	7	947	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	DHODH_ENST00000572887.1_Missense_Mutation_p.R309Q|DHODH_ENST00000573922.1_3'UTR	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	309					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	AAGCCCCTCCGGGATTTATCA	0.577																																																	0													52	53	52					16																	72057170		1911	4132	6043	SO:0001583	missense	0				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.926G>A	16.37:g.72057170G>A	ENSP00000219240:p.Arg309Gln		A8K8C8|Q6P176	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	p.R309Q	ENST00000219240.4	37	c.926	CCDS42192.1	16	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665520	0.67700	.	.	ENSG00000102967	ENST00000219240	D	0.86030	-2.06	5.59	5.59	0.84812	Aldolase-type TIM barrel (1);	0.055529	0.64402	D	0.000001	T	0.77260	0.4104	L	0.48362	1.52	0.58432	D	0.999995	P	0.52170	0.951	B	0.28305	0.088	T	0.77453	-0.2582	10	0.21540	T	0.41	-20.5088	19.96	0.97242	0.0:0.0:1.0:0.0	.	309	Q02127	PYRD_HUMAN	Q	309	ENSP00000219240:R309Q	ENSP00000219240:R309Q	R	+	2	0	DHODH	70614671	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.220000	0.58567	2.793000	0.96121	0.561000	0.74099	CGG	DHODH	-	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	ENSG00000102967		0.577	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHODH	HGNC	protein_coding		-	0	42	0	G	NM_001361		72057170	1	tier1	-	no_errors	ENST00000219240	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	A	A	72057170	G	A	72057170	3	1	87	1	0	0	0	0	1	0	0	0	4498	1116	39	1	952	1	DHODH	16	72057170	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	574541	72057170	18297583	1538	24662											
DHODH	1723	genome.wustl.edu	37	chr16	72057492	72057492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttctgggggccacccGttgtgggcaaagtcaagcgg	7	8	14	12	2	3	0	2	0	1	0	3	0	3	0	3	4	1	2	3	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:72057492G>A	ENST00000219240.4	+	8	1114	c.1093G>A	c.(1093-1095)Gtt>Att	p.V365I	DHODH_ENST00000572887.1_Missense_Mutation_p.V363I	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	365					'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GGGGCCACCCGTTGTGGGCAA	0.597																																																	0													63	69	67					16																	72057492		1957	4149	6106	SO:0001583	missense	0				CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"dihydroorotate dehydrogenase"			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.1093G>A	16.37:g.72057492G>A	ENSP00000219240:p.Val365Ile		A8K8C8|Q6P176	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	p.V365I	ENST00000219240.4	37	c.1093	CCDS42192.1	16	.	.	.	.	.	.	.	.	.	.	G	8.240	0.806644	0.16467	.	.	ENSG00000102967	ENST00000219240	D	0.84589	-1.87	5.38	1.12	0.20585	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.74527	0.3728	N	0.20685	0.6	0.58432	D	0.999996	B	0.24651	0.108	B	0.37989	0.262	T	0.57142	-0.7862	10	0.19590	T	0.45	-10.2392	7.2276	0.26024	0.063:0.2305:0.5868:0.1196	.	365	Q02127	PYRD_HUMAN	I	365	ENSP00000219240:V365I	ENSP00000219240:V365I	V	+	1	0	DHODH	70614993	1.000000	0.71417	0.191000	0.23289	0.024000	0.10985	3.085000	0.50151	0.071000	0.16664	-1.126000	0.01995	GTT	DHODH	-	pfam_Dihydroorotate_DH_1_2,pirsf_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH_2	ENSG00000102967		0.597	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHODH	HGNC	protein_coding		-	0	49	0	G	NM_001361		72057492	1	tier1	-	no_errors	ENST00000219240	ensembl	human	known	74_37	missense	30.51	41	18	SNP	0.966	A	A	72057492	G	A	72057492	3	1	87	1	0	0	0	0	1	0	0	0	4498	1145	40	1	1123	1	DHODH	16	72057492	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	322	72057492	18297261	1539	24663											
DHX38	9785	genome.wustl.edu	37	chr16	72133686	72133686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacgagttccacaaccCgctggcctactcctccgagg	8	8	9	16	3	0	1	0	1	0	0	3	3	3	1	5	2	2	2	5	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:72133686C>T	ENST00000268482.3	+	8	1525	c.1016C>T	c.(1015-1017)cCg>cTg	p.P339L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	339					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TTCCACAACCCGCTGGCCTAC	0.567											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(97;711 1442 7855 13832 28836)												0													93	76	82					16																	72133686		2198	4300	6498	SO:0001583	missense	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"DEAH-boxes"	17211	protein-coding gene	gene with protein product		605584	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1016C>T	16.37:g.72133686C>T	ENSP00000268482:p.Pro339Leu	1135	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P339L	ENST00000268482.3	37	c.1016	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354492	0.61293	.	.	ENSG00000140829	ENST00000268482	T	0.03301	3.98	4.69	4.69	0.59074	.	0.062166	0.64402	D	0.000003	T	0.09642	0.0237	M	0.85373	2.75	0.80722	D	1	P	0.43826	0.818	B	0.38683	0.279	T	0.10520	-1.0626	10	0.52906	T	0.07	.	17.9961	0.89184	0.0:1.0:0.0:0.0	.	339	Q92620	PRP16_HUMAN	L	339	ENSP00000268482:P339L	ENSP00000268482:P339L	P	+	2	0	DHX38	70691187	1.000000	0.71417	0.976000	0.42696	0.184000	0.23303	7.405000	0.80007	2.316000	0.78162	0.557000	0.71058	CCG	DHX38	-	NULL	ENSG00000140829		0.567	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	-	0	46	0	C	NM_014003		72133686	1	tier1	-	no_errors	ENST00000268482	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	T	T	72133686	C	T	72133686	3	4	87	1	0	0	0	0	1	0	0	0	4525	652	23	1	1042	1	DHX38	16	72133686	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	76194	72133686	18221067	1540	24664											
CLEC18B	497190	genome.wustl.edu	37	chr16	74447571	74447571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttgaggtggcccacaCgagctacaggagacacaggg	10	5	15	11	1	0	2	0	1	0	1	0	4	0	2	1	5	2	2	1	5	1	2	rs375757285		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:74447571C>T	ENST00000339953.5	-	4	581	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	154	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGGCCCACACGAGCTACAGG	0.612																																																	0								C	MET/VAL	1,4395		0,1,2197	81	82	82		460	3.1	1	16		82	0,8594		0,0,4297	no	missense	CLEC18B	NM_001011880.2	21	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	154/456	74447571	1,12989	2198	4297	6495	SO:0001583	missense	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.460G>A	16.37:g.74447571C>T	ENSP00000341051:p.Val154Met		B4DF90	Missense_Mutation	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.V154M	ENST00000339953.5	37	c.460	CCDS32484.1	16	.	.	.	.	.	.	.	.	.	.	c	19.23	3.787574	0.70337	2.27E-4	0.0	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.19806	2.12	3.1	3.1	0.35709	CAP domain (3);	0.000000	0.64402	D	0.000001	T	0.51466	0.1676	M	0.92691	3.335	0.53005	D	0.999963	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.60627	-0.7226	10	0.87932	D	0	.	9.5605	0.39366	0.0:1.0:0.0:0.0	.	74;154;154	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	M	154;154;154;74	ENSP00000341051:V154M	ENSP00000268492:V154M	V	-	1	0	CLEC18B	73005072	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.905000	0.69893	1.571000	0.49722	0.537000	0.68136	GTG	CLEC18B	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000140839		0.612	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1		0	129	0	C	NM_001011880		74447571	-1			no_errors	ENST00000339953	ensembl	human	known	74_37	missense	8.94	112	11	SNP	1.000	T	T	74447571	C	T	74447571	3	4	87	1	0	0	0	0	1	0	0	0	3510	536	19	1	947	1	CLEC18B	16	74447571	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2313885	74447571	15907182	1541	24665											
FA2H	79152	genome.wustl.edu	37	chr16	74752984	74752984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcggtggatgaggtactCgatgaggctccagaggaatg	11	7	17	6	2	0	3	0	2	0	1	2	7	1	5	1	5	2	2	1	5	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:74752984C>T	ENST00000219368.3	-	5	757	c.688G>A	c.(688-690)Gag>Aag	p.E230K	FA2H_ENST00000544337.1_Missense_Mutation_p.E17K	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	230					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ATGAGGTACTCGATGAGGCTC	0.592																																																	0													92	80	84					16																	74752984		2198	4300	6498	SO:0001583	missense	0			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"Fatty acid hydroxylase domain containing"	21197	protein-coding gene	gene with protein product	"fatty acid hydroxylase"	611026	"fatty acid hydroxylase domain containing 1", "spastic paraplegia 35 (autosomal recessive)"	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.688G>A	16.37:g.74752984C>T	ENSP00000219368:p.Glu230Lys		B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd	p.E230K	ENST00000219368.3	37	c.688	CCDS10911.1	16	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371155	0.82573	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.85258	-1.96;-1.96	5.57	4.56	0.56223	Fatty acid hydroxylase (1);	0.095913	0.64402	D	0.000001	D	0.90317	0.6971	H	0.97365	3.99	0.80722	D	1	P	0.51933	0.949	B	0.40702	0.338	D	0.93712	0.7025	10	0.87932	D	0	-14.274	15.2278	0.73364	0.1412:0.8588:0.0:0.0	.	230	Q7L5A8	FA2H_HUMAN	K	230;17	ENSP00000219368:E230K;ENSP00000442334:E17K	ENSP00000219368:E230K	E	-	1	0	FA2H	73310485	1.000000	0.71417	0.955000	0.39395	0.715000	0.41141	5.955000	0.70306	2.619000	0.88677	0.561000	0.74099	GAG	FA2H	-	pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase	ENSG00000103089		0.592	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FA2H	HGNC	protein_coding	OTTHUMT00000269015.2	-	0	55	0	C	NM_024306		74752984	-1	tier1	-	no_errors	ENST00000219368	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.999	T	T	74752984	C	T	74752984	3	4	87	1	0	0	0	0	1	0	0	0	5371	893	31	1	442	1	FA2H	16	74752984	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	305413	74752984	15601769	1542	24666											
CHST6	4166	genome.wustl.edu	37	chr16	75512843	75512843	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcgagctgtggcgtgAgactgagcccagtgaaggcg	8	6	17	10	3	0	3	0	3	0	1	1	5	0	3	2	3	2	1	2	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:75512843A>T	ENST00000332272.4	-	3	1063	c.884T>A	c.(883-885)cTc>cAc	p.L295H	CHST6_ENST00000390664.2_Missense_Mutation_p.L295H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	295					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGTGGCGTGAGACTGAGCCC	0.647																																																	0													57	53	54					16																	75512843		2198	4300	6498	SO:0001583	missense	0			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.884T>A	16.37:g.75512843A>T	ENSP00000328983:p.Leu295His		D3DUK3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.L295H	ENST00000332272.4	37	c.884	CCDS10918.1	16	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121957	0.37436	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.99803	-6.82;-6.82	4.73	4.73	0.59995	Sulfotransferase domain (1);	0.192055	0.41396	D	0.000898	D	0.99632	0.9865	M	0.78637	2.42	0.41389	D	0.9876	D	0.63046	0.992	D	0.67231	0.95	D	0.98115	1.0422	10	0.40728	T	0.16	.	12.1704	0.54155	1.0:0.0:0.0:0.0	.	295	Q9GZX3	CHST6_HUMAN	H	295	ENSP00000328983:L295H;ENSP00000375079:L295H	ENSP00000328983:L295H	L	-	2	0	CHST6	74070344	1.000000	0.71417	0.993000	0.49108	0.334000	0.28698	6.014000	0.70784	1.780000	0.52325	0.482000	0.46254	CTC	CHST6	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000183196		0.647	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST6	HGNC	protein_coding	OTTHUMT00000435478.1	-	0	57	0	A	NM_021615		75512843	-1	tier1	-	no_errors	ENST00000332272	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.990	T	T	75512843	A	T	75512843	3	4	87	1	0	0	0	0	1	0	0	0	3415	304	11	5	307	5	CHST6	16	75512843	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	759859	75512843	14841910	1543	24667											
CNTNAP4	85445	genome.wustl.edu	37	chr16	76555129	76555129	+	Frame_Shift_Del	DEL	T	T	-																															ttagcgcggatgtatctttcTtttttaagacaacagcttca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:76555129delT	ENST00000476707.1	+	15	2606	c.2467delT	c.(2467-2469)tttfs	p.F824fs	CNTNAP4_ENST00000478060.1_Frame_Shift_Del_p.F748fs|CNTNAP4_ENST00000307431.8_Frame_Shift_Del_p.F820fs|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Frame_Shift_Del_p.F772fs			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	821	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGTATCTTTCTTTTTTAAGAC	0.403																																																	0													230	218	222					16																	76555129		1817	4070	5887	SO:0001589	frameshift_variant	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2467delT	16.37:g.76555129delT	ENSP00000417628:p.Phe824fs		E9PFZ6|Q86YZ7	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F820fs	ENST00000476707.1	37	c.2455		16																																																																																			CNTNAP4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000152910		0.403	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	HGNC	protein_coding	OTTHUMT00000348216.1		0	61	0	T	NM_033401		76555129	1	tier1		no_errors	ENST00000307431	ensembl	human	known	74_37	frame_shift_del	17.50	66	14	DEL	1.000	-	-	76555129	T	-	76555129	7	5	87	1	0	1	0	1	0	0	0	0	3656	1609	56	0	2533	0	CNTNAP4	16	76555129	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	1042286	76555129	13799624	1544	24668											
VAT1L	57687	genome.wustl.edu	37	chr16	78011528	78011528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagagaccagtgaagcagGggaagaggaggaggaccacg	15	1	17	8	1	0	3	0	1	0	2	0	8	0	7	2	5	1	1	2	5	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:78011528G>A	ENST00000302536.2	+	9	1349	c.1196G>A	c.(1195-1197)gGg>gAg	p.G399E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	399							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGTGAAGCAGGGGAAGAGGAG	0.517																																																	0													163	119	134					16																	78011528		2198	4300	6498	SO:0001583	missense	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"vesicle amine transport protein 1 homolog (T. californica)-like"			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1196G>A	16.37:g.78011528G>A	ENSP00000303129:p.Gly399Glu		Q8IYW8	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.G399E	ENST00000302536.2	37	c.1196	CCDS32492.1	16	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337680	0.81911	.	.	ENSG00000171724	ENST00000302536	T	0.07567	3.18	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.39522	-0.9610	10	0.66056	D	0.02	-5.6221	17.8175	0.88639	0.0:0.0:1.0:0.0	.	399	Q9HCJ6	VAT1L_HUMAN	E	399	ENSP00000303129:G399E	ENSP00000303129:G399E	G	+	2	0	VAT1L	76569029	1.000000	0.71417	0.212000	0.23672	0.918000	0.54935	9.471000	0.97696	2.315000	0.78130	0.561000	0.74099	GGG	VAT1L	-	NULL	ENSG00000171724		0.517	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	-	0	59	0	G	NM_020927		78011528	1	tier1	-	no_errors	ENST00000302536	ensembl	human	known	74_37	missense	13.43	58	9	SNP	0.998	A	A	78011528	G	A	78011528	3	1	87	1	0	0	0	0	1	0	0	0	17179	1232	43	3	1230	3	VAT1L	16	78011528	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1456399	78011528	12343225	1545	24669											
ADAD2	161931	genome.wustl.edu	37	chr16	84228780	84228780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgtaaggggactgtggCtggagtcatcctggagaggg	7	8	19	7	0	1	1	1	0	0	1	2	4	2	3	2	7	0	2	2	7	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:84228780C>T	ENST00000315906.5	+	4	765	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.A310V	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	238					RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GGGACTGTGGCTGGAGTCATC	0.682																																																	0													26	28	27					16																	84228780		2200	4299	6499	SO:0001583	missense	0			AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.713C>T	16.37:g.84228780C>T	ENSP00000325153:p.Ala238Val		B2RCL6|Q8NA94	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.A310V	ENST00000315906.5	37	c.929	CCDS45536.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988525	0.74589	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	T;T	0.29142	1.58;2.03	4.9	4.9	0.64082	.	0.084048	0.44285	D	0.000476	T	0.49270	0.1547	L	0.49126	1.545	0.43263	D	0.9952	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49688	-0.8913	10	0.87932	D	0	-17.2307	13.9453	0.64080	0.0:1.0:0.0:0.0	.	238;310	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	V	238;310	ENSP00000325153:A238V;ENSP00000268624:A310V	ENSP00000268624:A310V	A	+	2	0	ADAD2	82786281	0.995000	0.38212	0.855000	0.33649	0.464000	0.32679	4.273000	0.58914	2.419000	0.82065	0.650000	0.86243	GCT	ADAD2	-	smart_A_deamin	ENSG00000140955		0.682	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD2	HGNC	protein_coding	OTTHUMT00000433385.1	-	0	122	0	C	NM_139174		84228780	1	tier1	-	no_errors	ENST00000268624	ensembl	human	known	74_37	missense	7.50	111	9	SNP	0.970	T	T	84228780	C	T	84228780	3	4	87	1	0	0	0	0	1	0	0	0	232	797	28	3	947	3	ADAD2	16	84228780	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6217252	84228780	6125973	1546	24670											
FOXC2	2303	genome.wustl.edu	37	chr16	86602228	86602228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtatctcaaccacagCggggacctgaaccacctccc	9	7	8	17	1	1	1	1	1	1	0	4	2	3	2	6	3	3	1	6	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:86602228C>T	ENST00000320354.4	+	1	1372	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	429					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TCAACCACAGCGGGGACCTGA	0.731									Late-onset Hereditary Lymphedema																																								0													16	18	17					16																	86602228		2177	4257	6434	SO:0001819	synonymous_variant	0	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"Forkhead boxes"	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.1287C>T	16.37:g.86602228C>T			C6KMR9|Q14DA6	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S429	ENST00000320354.4	37	c.1287	CCDS10958.1	16																																																																																			FOXC2	-	NULL	ENSG00000176692		0.731	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC2	HGNC	protein_coding	OTTHUMT00000269104.2		0	21	0	C	NM_005251		86602228	1			no_errors	ENST00000320354	ensembl	human	known	74_37	silent	25.00	9	3	SNP	1.000	T	T	86602228	C	T	86602228	2	4	87	1	0	0	0	0	0	0	0	1	6017	767	27	1		1	FOXC2	16	86602228	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2373448	86602228	3752525	1547	24671											
FBXO31	79791	genome.wustl.edu	37	chr16	87364978	87364978	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgttccggaaggtggcctgGacccggctgtacaggctgaa	7	7	16	11	3	0	1	0	1	0	0	1	3	1	3	3	6	1	4	3	6	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:87364978G>T	ENST00000311635.7	-	9	1548	c.1536C>A	c.(1534-1536)gtC>gtA	p.V512V	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	512					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGTGGCCTGGACCCGGCTGT	0.617																																																	0													69	56	60					16																	87364978		2198	4300	6498	SO:0001819	synonymous_variant	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1536C>A	16.37:g.87364978G>T			Q5K680|Q8WYV1|Q96D73|Q9UFV4	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.V512	ENST00000311635.7	37	c.1536	CCDS32501.1	16																																																																																			FBXO31	-	NULL	ENSG00000103264		0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	-	0	77	0	G	NM_024735		87364978	-1	tier1	-	no_errors	ENST00000311635	ensembl	human	known	74_37	silent	23.64	42	13	SNP	1.000	T	T	87364978	G	T	87364978	2	4	87	1	0	0	0	0	0	0	0	1	5763	1161	41	3		3	FBXO31	16	87364978	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	762750	87364978	2989775	1548	24672											
FBXO31	79791	genome.wustl.edu	37	chr16	87369001	87369001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtacctttgaagaggccaGgcttgatgaggtcgtcgggg	8	9	17	7	2	0	4	0	3	0	1	2	4	0	4	2	6	1	2	2	6	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:87369001G>T	ENST00000311635.7	-	7	917	c.905C>A	c.(904-906)cCt>cAt	p.P302H	RP11-178L8.4_ENST00000568879.1_5'Flank	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	302					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAAGAGGCCAGGCTTGATGAG	0.647																																																	0													69	58	62					16																	87369001		2197	4300	6497	SO:0001583	missense	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"F-boxes /  "other""	16510	protein-coding gene	gene with protein product		609102	"F-box only protein 31"				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.905C>A	16.37:g.87369001G>T	ENSP00000310841:p.Pro302His		Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.P302H	ENST00000311635.7	37	c.905	CCDS32501.1	16	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883781	0.91814	.	.	ENSG00000103264	ENST00000311635	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.68495	0.3007	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72520	-0.4268	9	0.87932	D	0	-20.9696	18.4394	0.90660	0.0:0.0:1.0:0.0	.	302;194	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	H	302	.	ENSP00000310841:P302H	P	-	2	0	FBXO31	85926502	1.000000	0.71417	0.942000	0.38095	0.881000	0.50899	9.640000	0.98453	2.368000	0.80403	0.561000	0.74099	CCT	FBXO31	-	NULL	ENSG00000103264		0.647	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	-	0	204	0	G	NM_024735		87369001	-1	tier1	-	no_errors	ENST00000311635	ensembl	human	known	74_37	missense	9.14	169	17	SNP	1.000	T	T	87369001	G	T	87369001	3	4	87	1	0	0	0	0	1	0	0	0	5763	1000	35	3	726	3	FBXO31	16	87369001	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4023	87369001	2985752	1549	24673											
MAP1LC3B	81631	genome.wustl.edu	37	chr16	87436702	87436702	+	Stop_Codon_Del	DEL	A	A	-																															cgggatgaaattgtcagtgtAaaaccagaaaaaatgcagct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:87436702delA	ENST00000268607.5	+	0	1005				RP11-178L8.3_ENST00000569147.1_RNA|MAP1LC3B_ENST00000534986.1_Stop_Codon_Del	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta						autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasmic vesicle (GO:0031410)|intracellular (GO:0005622)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		TTGTCAGTGTAAAACCAGAAA	0.413																																																	0													126	98	107					16																	87436702		2198	4300	6498	SO:0001567	stop_retained_variant	0			AF087871	CCDS10960.1	16q24.2	2014-02-12			ENSG00000140941	ENSG00000140941			13352	protein-coding gene	gene with protein product		609604					Standard	NM_022818		Approved	ATG8F	uc002fjx.3	Q9GZQ8	OTTHUMG00000137654	Exception_encountered	16.37:g.87436702delA			Q6NW02	Frame_Shift_Del	DEL	pfam_Atg8_fam,pfam_Atg12	p.*126fs	ENST00000268607.5	37	c.377	CCDS10960.1	16																																																																																			MAP1LC3B	-	NULL	ENSG00000140941		0.413	MAP1LC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3B	HGNC	protein_coding	OTTHUMT00000269106.1		0	73	0	A			87436702	1	tier1		no_errors	ENST00000268607	ensembl	human	known	74_37	frame_shift_del	15.49	60	11	DEL	0.001	-	-	87436702	A	-	87436702	7	5	87	1	0	1	0	1	0	0	0	0	9269	369	13	0	391	0	MAP1LC3B	16	87436702	Stop_Codon_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	67701	87436702	2918051	1550	24674											
CYBA	1535	genome.wustl.edu	37	chr16	88709879	88709879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcggccgggggccgcGgcggggggttgctgggcggc	0	4	25	12	6	0	0	0	0	0	0	1	0	0	0	3	10	1	2	3	10	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88709879G>A	ENST00000261623.3	-	6	608	c.470C>T	c.(469-471)cCg>cTg	p.P157L		NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	157	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	cgggggccgcggcggggggTT	0.766																																																	0													1	2	2					16																	88709879		1078	2672	3750	SO:0001583	missense	0				CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"Cytochrome b genes"	2577	protein-coding gene	gene with protein product	"flavocytochrome b-558 alpha polypeptide"	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.470C>T	16.37:g.88709879G>A	ENSP00000261623:p.Pro157Leu		Q14090|Q9BR72	Missense_Mutation	SNP	pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu	p.P157L	ENST00000261623.3	37	c.470	CCDS32504.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127106	0.77549	.	.	ENSG00000051523	ENST00000261623	D	0.91295	-2.82	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95886	0.8903	10	0.87932	D	0	-14.1063	15.1105	0.72351	0.0:0.0:1.0:0.0	.	157	P13498	CY24A_HUMAN	L	157	ENSP00000261623:P157L	ENSP00000261623:P157L	P	-	2	0	CYBA	87237380	1.000000	0.71417	0.526000	0.27913	0.597000	0.36814	6.038000	0.70964	2.321000	0.78463	0.491000	0.48974	CCG	CYBA	-	pfam_Cyt_b558_asu,pirsf_Cyt_b558_asu	ENSG00000051523		0.766	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBA	HGNC	protein_coding	OTTHUMT00000422765.1	-	0	18	0	G	NM_000101		88709879	-1	tier1	-	no_errors	ENST00000261623	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.937	A	A	88709879	G	A	88709879	3	1	87	1	0	0	0	0	1	0	0	0	4140	1116	39	1	121	1	CYBA	16	88709879	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1273177	88709879	1644874	1551	24675											
CDT1	81620	genome.wustl.edu	37	chr16	88872230	88872230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaccttcaaggatggcaCcaggaggtcagattaccagc	11	6	10	14	0	2	1	2	0	0	1	2	3	2	3	5	4	2	1	5	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88872230C>T	ENST00000301019.4	+	5	1404	c.785C>T	c.(784-786)aCc>aTc	p.T262I		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		AAGGATGGCACCAGGAGGTCA	0.602																																					Melanoma(159;511 3380 30971)												0													42	44	44					16																	88872230		2195	4298	6493	SO:0001583	missense	0			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.785C>T	16.37:g.88872230C>T	ENSP00000301019:p.Thr262Ile			Missense_Mutation	SNP	pfam_CDT1_Gemini-bd-like	p.T262I	ENST00000301019.4	37	c.785	CCDS32510.1	16	.	.	.	.	.	.	.	.	.	.	C	1.414	-0.574600	0.03882	.	.	ENSG00000167513	ENST00000301019	T	0.23348	1.91	4.83	-0.605	0.11623	.	0.865536	0.10187	N	0.705131	T	0.10337	0.0253	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.37150	-0.9718	10	0.20519	T	0.43	.	7.7847	0.29085	0.0:0.1384:0.42:0.4417	.	262	Q9H211	CDT1_HUMAN	I	262	ENSP00000301019:T262I	ENSP00000301019:T262I	T	+	2	0	CDT1	87399731	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.678000	0.25277	-0.078000	0.12730	-0.605000	0.04089	ACC	CDT1	-	pfam_CDT1_Gemini-bd-like	ENSG00000167513		0.602	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000423215.1	-	0	46	0	C	NM_030928		88872230	1	tier1	-	no_errors	ENST00000301019	ensembl	human	known	74_37	missense	14.58	41	7	SNP	0.000	T	T	88872230	C	T	88872230	3	4	87	1	0	0	0	0	1	0	0	0	3187	507	18	3	803	3	CDT1	16	88872230	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	162351	88872230	1482523	1552	24676											
CBFA2T3	863	genome.wustl.edu	37	chr16	88958316	88958316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagggaatgacaaacggccGcagagggaagttggtggcct	12	5	17	7	2	0	2	0	1	0	1	0	5	0	4	2	5	1	2	2	5	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:88958316G>A	ENST00000268679.4	-	5	1081	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R204W|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R143W|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R153W|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R143W	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	229	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ACAAACGGCCGCAGAGGGAAG	0.577			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0													97	84	88					16																	88958316		2195	4299	6494	SO:0001583	missense	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.685C>T	16.37:g.88958316G>A	ENSP00000268679:p.Arg229Trp		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.R229W	ENST00000268679.4	37	c.685	CCDS10972.1	16	.	.	.	.	.	.	.	.	.	.	g	14.84	2.654797	0.47467	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	4.54	2.5	0.30297	TAFH/NHR1 (3);	0.111775	0.64402	D	0.000015	T	0.48409	0.1498	M	0.64170	1.965	0.54753	D	0.999989	B;B;B;B	0.33583	0.062;0.037;0.18;0.418	B;B;B;B	0.41299	0.032;0.067;0.335;0.353	T	0.50189	-0.8857	10	0.87932	D	0	-19.2182	8.9465	0.35762	0.079:0.0:0.7685:0.1526	.	204;229;229;143	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	W	143;229;204;153;143	ENSP00000332122:R143W;ENSP00000268679:R229W;ENSP00000395739:R204W;ENSP00000401254:R153W;ENSP00000353449:R143W	ENSP00000268679:R229W	R	-	1	2	CBFA2T3	87485817	1.000000	0.71417	0.638000	0.29380	0.856000	0.48823	3.063000	0.49978	0.593000	0.29745	0.556000	0.70494	CGG	CBFA2T3	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO	ENSG00000129993		0.577	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0	44	0	G	NM_005187		88958316	-1	tier1	-	no_errors	ENST00000268679	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	A	A	88958316	G	A	88958316	3	1	87	1	0	0	0	0	1	0	0	0	2705	1086	38	1	1308	1	CBFA2T3	16	88958316	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	86086	88958316	1396437	1553	24677											
CPNE7	27132	genome.wustl.edu	37	chr16	89657608	89657608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggccccaccaacgtggcGcccatcatctccaaggtggc	8	6	10	17	3	2	0	1	0	1	0	3	0	2	0	5	4	2	0	5	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:89657608G>A	ENST00000268720.5	+	15	1597	c.1467G>A	c.(1465-1467)gcG>gcA	p.A489A	CPNE7_ENST00000319518.8_Silent_p.A414A	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	489	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		CCAACGTGGCGCCCATCATCT	0.701																																																	0													19	21	20					16																	89657608		2184	4287	6471	SO:0001819	synonymous_variant	0			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1467G>A	16.37:g.89657608G>A				Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.A489	ENST00000268720.5	37	c.1467	CCDS10980.1	16																																																																																			CPNE7	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A	ENSG00000178773		0.701	CPNE7-002	KNOWN	basic|CCDS	protein_coding	CPNE7	HGNC	protein_coding	OTTHUMT00000269929.2	-	0	126	0	G			89657608	1	tier1	-	no_errors	ENST00000268720	ensembl	human	known	74_37	silent	14.12	73	12	SNP	0.521	A	A	89657608	G	A	89657608	2	1	87	1	0	0	0	0	0	0	0	1	3824	1074	38	1		1	CPNE7	16	89657608	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	699292	89657608	697145	1554	24678											
CDK10	8558	genome.wustl.edu	37	chr16	89758878	89758878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaagtgcatcgtgctgcagGtgctccggggcctccagtat	6	10	13	12	2	1	0	1	0	0	0	4	0	3	0	3	3	4	5	3	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:89758878G>A	ENST00000353379.7	+	6	482	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	CDK10_ENST00000331006.8_Missense_Mutation_p.V100M|CDK10_ENST00000505473.1_Missense_Mutation_p.V76M	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CGTGCTGCAGGTGCTCCGGGG	0.597																																																	0													88	78	81					16																	89758878		2198	4300	6498	SO:0001583	missense	0			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"Cyclin-dependent kinases"	1770	protein-coding gene	gene with protein product		603464	"cyclin-dependent kinase (CDC2-like) 10"			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.439G>A	16.37:g.89758878G>A	ENSP00000338673:p.Val147Met		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V147M	ENST00000353379.7	37	c.439	CCDS10984.2	16	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604590	0.46423	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.69926	-0.44;-0.44;-0.44	4.51	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.212057	0.40640	N	0.001060	T	0.59662	0.2210	N	0.16743	0.435	0.46260	D	0.99895	B;B;B;B;B;P	0.37548	0.372;0.146;0.242;0.071;0.071;0.599	B;B;B;B;B;P	0.45167	0.285;0.213;0.152;0.059;0.073;0.472	T	0.66524	-0.5902	10	0.66056	D	0.02	-37.0057	15.5464	0.76104	0.0:0.0:1.0:0.0	.	141;76;147;76;76;105	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2	.;.;CDK10_HUMAN;.;.;.	M	100;118;76;147	ENSP00000329957:V100M;ENSP00000424415:V76M;ENSP00000338673:V147M	ENSP00000329957:V100M	V	+	1	0	CDK10	88286379	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.535000	0.45685	2.333000	0.79357	0.491000	0.48974	GTG	CDK10	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000185324		0.597	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK10	HGNC	protein_coding	OTTHUMT00000269925.2	-	0	63	0	G			89758878	1	tier1	-	no_errors	ENST00000353379	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	A	A	89758878	G	A	89758878	3	1	87	1	0	0	0	0	1	0	0	0	3132	1261	44	3	461	3	CDK10	16	89758878	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	101270	89758878	595875	1555	24679											
TUBB3	10381	genome.wustl.edu	37	chr16	90001340	90001340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgcgtgaggagtatcccGaccgcatcatgaacaccttc	10	8	11	12	3	1	2	1	2	0	0	3	4	2	3	3	2	2	2	3	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr16:90001340G>A	ENST00000315491.7	+	4	604	c.481G>A	c.(481-483)Gac>Aac	p.D161N	TUBB3_ENST00000304984.5_Missense_Mutation_p.D89N|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.D508N|TUBB3_ENST00000554444.1_Missense_Mutation_p.D89N	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	161					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GGAGTATCCCGACCGCATCAT	0.647																																																	0													168	130	143					16																	90001340		2198	4300	6498	SO:0001583	missense	0			BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"Tubulins"	20772	protein-coding gene	gene with protein product	"class III beta-tubulin"	602661	"tubulin, beta 3", "fibrosis of extraocular muscles, congenital, 3"	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.481G>A	16.37:g.90001340G>A	ENSP00000320295:p.Asp161Asn		A8K854|Q9BTZ0|Q9BW10	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.D161N	ENST00000315491.7	37	c.481	CCDS10988.1	16	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125791	0.56721	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258947;ENSG00000198211;ENSG00000198211;ENSG00000198211	ENST00000556922;ENST00000555399;ENST00000304984;ENST00000555810;ENST00000554444;ENST00000315491	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	4.65	4.65	0.58169	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.53938	D	0.000053	T	0.75744	0.3891	M	0.85630	2.765	0.54753	D	0.999986	B;B	0.32829	0.043;0.386	B;B	0.42062	0.374;0.374	T	0.76806	-0.2823	9	.	.	.	.	16.6661	0.85253	0.0:0.0:1.0:0.0	.	161;161	Q13509;B2RBD5	TBB3_HUMAN;.	N	508;161;89;89;89;161	ENSP00000451560:D508N;ENSP00000302777:D89N;ENSP00000450538:D89N;ENSP00000451617:D89N;ENSP00000320295:D161N	.	D	+	1	0	RP11-566K11.2;TUBB3	88528841	1.000000	0.71417	0.942000	0.38095	0.944000	0.59088	9.561000	0.98142	2.297000	0.77311	0.511000	0.50034	GAC	TUBB3	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	ENSG00000258947		0.647	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB3	Uniprot_gn	protein_coding	OTTHUMT00000272874.1	-	0	81	0	G	NM_006086		90001340	1	tier1	-	no_errors	ENST00000315491	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	A	A	90001340	G	A	90001340	3	1	87	1	0	0	0	0	1	0	0	0	16806	1058	37	1	495	1	TUBB3	16	90001340	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	242462	90001340	353413	1556	24680											
PRPF8	10594	genome.wustl.edu	37	chr17	1582092	1582092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccagccgatactgcacGtgactatccaccaccagctt	9	9	7	16	2	0	1	0	1	0	0	1	2	1	1	5	0	5	2	5	0	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:1582092G>A	ENST00000572621.1	-	11	1948	c.1683C>T	c.(1681-1683)caC>caT	p.H561H	PRPF8_ENST00000304992.6_Silent_p.H561H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	561					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATACTGCACGTGACTATCCA	0.522																																																	0													70	64	66					17																	1582092		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1683C>T	17.37:g.1582092G>A			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.H561	ENST00000572621.1	37	c.1683	CCDS11010.1	17																																																																																			PRPF8	-	pfam_PROCN,superfamily_Histone-fold	ENSG00000174231		0.522	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2		0	29	0	G			1582092	-1			no_errors	ENST00000304992	ensembl	human	known	74_37	silent	20.00	8	2	SNP	0.891	A	A	1582092	G	A	1582092	2	1	87	1	0	0	0	0	0	0	0	1	12617	1136	40	1		1	PRPF8	17	1582092	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		1582092	79613118	1557	24681											
SERPINF1	5176	genome.wustl.edu	37	chr17	1674430	1674431	+	Frame_Shift_Ins	INS	-	-	C																															gctccttgacacggtcactgINSccccccagaagaacctcaag																								rs148005190		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:1674430_1674431insC	ENST00000254722.4	+	4	554_555	c.391_392insC	c.(391-393)gccfs	p.A131fs	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	131					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CACGGTCACTGCCCCCCAGAAG	0.55																																																	0																																										SO:0001589	frameshift_variant	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.397dupC	17.37:g.1674436_1674436dupC	ENSP00000254722:p.Ala131fs		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Frame_Shift_Ins	INS	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Q133fs	ENST00000254722.4	37	c.391_392	CCDS11012.1	17																																																																																			SERPINF1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000132386		0.55	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4		0	52	0	-	NM_002615		1674431	1	tier1		no_errors	ENST00000254722	ensembl	human	known	74_37	frame_shift_ins	25.93	40	14	INS	0.614:0.627	C	C	1674431	-	C	1674430	7	5	87	1	0	1	1	0	0	0	0	0	14159	1319	46	0	401	0	SERPINF1	17	1674430	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	92338	1674430	79520780	1558	24682											
SMG6	23293	genome.wustl.edu	37	chr17	2202942	2202942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatccatatcatccctggCtgacctcaccatgggagact	9	11	7	14	0	3	2	2	1	1	1	5	3	5	2	4	2	0	1	4	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:2202942C>T	ENST00000263073.6	-	2	1155	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	SMG6_ENST00000544865.1_Missense_Mutation_p.A338T	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	369	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATCCCTGGCTGACCTCACC	0.498																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													82	71	75					17																	2202942		2203	4300	6503	SO:0001583	missense	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"EST1 telomerase component homolog A (S. cerevisiae)"	610963	"chromosome 17 open reading frame 31", "smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1105G>A	17.37:g.2202942C>T	ENSP00000263073:p.Ala369Thr		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.A369T	ENST00000263073.6	37	c.1105	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	C	0.424	-0.906730	0.02434	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.08193	3.12;3.12	4.82	-2.47	0.06442	.	0.822162	0.10227	N	0.700152	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.08837	T	0.75	-0.3762	3.3231	0.07057	0.3111:0.2453:0.0:0.4436	.	369	Q86US8	EST1A_HUMAN	T	369;338	ENSP00000263073:A369T;ENSP00000443920:A338T	ENSP00000263073:A369T	A	-	1	0	SMG6	2149692	0.000000	0.05858	0.022000	0.16811	0.009000	0.06853	-0.580000	0.05827	-0.241000	0.09681	-0.727000	0.03589	GCC	SMG6	-	NULL	ENSG00000070366		0.498	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	-	0	67	0	C			2202942	-1	tier1	-	no_errors	ENST00000263073	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.001	T	T	2202942	C	T	2202942	3	4	87	1	0	0	0	0	1	0	0	0	14842	797	28	3	3226	3	SMG6	17	2202942	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	528512	2202942	78992268	1559	24683											
SGSM2	9905	genome.wustl.edu	37	chr17	2268625	2268625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcatctaccccggccacagGcacgagcacagtgagtgtcc	10	6	10	15	2	2	1	1	1	1	0	3	2	3	1	4	2	2	2	4	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:2268625G>A	ENST00000426855.2	+	11	1453	c.1278G>A	c.(1276-1278)agG>agA	p.R426R	SGSM2_ENST00000268989.3_Silent_p.R426R|SGSM2_ENST00000574563.1_Silent_p.R426R	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	426					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCGGCCACAGGCACGAGCACA	0.652																																																	0													38	31	33					17																	2268625		2193	4292	6485	SO:0001819	synonymous_variant	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"Small G protein signaling modulators"	29026	protein-coding gene	gene with protein product		611418	"RUN and TBC1 domain containing 1"	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1278G>A	17.37:g.2268625G>A			A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.R426	ENST00000426855.2	37	c.1278	CCDS45570.1	17																																																																																			SGSM2	-	NULL	ENSG00000141258		0.652	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	-	0	66	0	G	NM_014853		2268625	1	tier1	-	no_errors	ENST00000268989	ensembl	human	known	74_37	silent	8.93	51	5	SNP	1.000	A	A	2268625	G	A	2268625	2	1	87	1	0	0	0	0	0	0	0	1	14268	1194	42	3		3	SGSM2	17	2268625	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	65683	2268625	78926585	1560	24684											
PAFAH1B1	5048	genome.wustl.edu	37	chr17	2576016	2576016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catatagtgtctgcctcaagGgataaaactataaaaatgtg	16	11	8	6	0	2	0	1	0	1	0	2	1	2	1	1	1	2	0	1	1	9	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:2576016G>A	ENST00000397195.5	+	7	1087	c.636G>A	c.(634-636)agG>agA	p.R212R	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Silent_p.R41R	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTGCCTCAAGGGATAAAACTA	0.428																																																	0													108	98	101					17																	2576016		2203	4300	6503	SO:0001819	synonymous_variant	0			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.636G>A	17.37:g.2576016G>A				Silent	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R212	ENST00000397195.5	37	c.636	CCDS32528.1	17																																																																																			PAFAH1B1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000007168		0.428	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2		0	35	0	G	NM_000430		2576016	1			no_errors	ENST00000397195	ensembl	human	known	74_37	silent	8.00	23	2	SNP	1.000	A	A	2576016	G	A	2576016	2	1	87	1	0	0	0	0	0	0	0	1	11423	1223	43	3		3	PAFAH1B1	17	2576016	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	307391	2576016	78619194	1561	24685											
TRPV1	7442	genome.wustl.edu	37	chr17	3480936	3480936	+	Frame_Shift_Del	DEL	G	G	-																															gcccatctgctggaaaccgcGggtgtagtagagcatgttgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:3480936delG	ENST00000571088.1	-	11	1882	c.1669delC	c.(1669-1671)cgcfs	p.R557fs	TRPV1_ENST00000399759.3_Frame_Shift_Del_p.R557fs|TRPV1_ENST00000174621.6_Frame_Shift_Del_p.R555fs|TRPV1_ENST00000310522.5_Frame_Shift_Del_p.R497fs|TRPV1_ENST00000576351.1_Frame_Shift_Del_p.R547fs|TRPV1_ENST00000425167.2_Frame_Shift_Del_p.R568fs|RP11-235E17.3_ENST00000573568.1_RNA|TRPV1_ENST00000399756.4_Frame_Shift_Del_p.R557fs|SHPK_ENST00000572705.1_Frame_Shift_Del_p.R557fs	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	557					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGGAAACCGCGGGTGTAGTAG	0.587																																					Melanoma(38;962 1762 15789)												0													41	46	44					17																	3480936		2031	4165	6196	SO:0001589	frameshift_variant	0			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.1669delC	17.37:g.3480936delG	ENSP00000461007:p.Arg557fs		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.R557fs	ENST00000571088.1	37	c.1669	CCDS45576.1	17																																																																																			TRPV1	-	tigrfam_TRP_channel	ENSG00000196689		0.587	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1		0	42	0	G	NM_018727		3480936	-1	tier1		no_errors	ENST00000399756	ensembl	human	known	74_37	frame_shift_del	30.30	23	10	DEL	1.000	-	-	3480936	G	-	3480936	7	5	87	1	0	1	0	1	0	0	0	0	16643	1116	39	0	547	0	TRPV1	17	3480936	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	904920	3480936	77714274	1562	24686											
SHPK	23729	genome.wustl.edu	37	chr17	3513905	3513905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatgaccagagctgccccGacagctgcatccacatcctg	10	6	9	16	1	0	2	0	1	0	1	2	3	2	2	5	0	5	4	5	0	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:3513905G>A	ENST00000225519.3	-	7	1488	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	SHPK_ENST00000572705.1_5'Flank	NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	462					carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAGCTGCCCCGACAGCTGCAT	0.542																																																	0													145	137	140					17																	3513905		2203	4300	6503	SO:0001819	synonymous_variant	0			AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"carbohydrate kinase-like"	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.1386C>T	17.37:g.3513905G>A			B2R640|Q8WUH3	Silent	SNP	pfam_Carb_kinase_FGGY_N	p.V462	ENST00000225519.3	37	c.1386	CCDS11030.1	17																																																																																			SHPK	-	NULL	ENSG00000197417		0.542	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHPK	HGNC	protein_coding	OTTHUMT00000207378.2	-	0	16	0	G			3513905	-1	tier1	-	no_errors	ENST00000225519	ensembl	human	known	74_37	silent	53.85	6	7	SNP	0.027	A	A	3513905	G	A	3513905	2	1	87	1	0	0	0	0	0	0	0	1	14335	1045	37	1		1	SHPK	17	3513905	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	32969	3513905	77681305	1563	24687											
P2RX1	5023	genome.wustl.edu	37	chr17	3808604	3808604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcccttgagtttcacagaGacactgctgatgaggccgct	9	9	12	11	1	1	4	1	3	0	1	1	5	1	4	2	2	1	3	2	2	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:3808604G>A	ENST00000225538.3	-	2	469	c.195C>T	c.(193-195)gtC>gtT	p.V65V		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	65					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GTTTCACAGAGACACTGCTGA	0.632																																																	0													57	62	60					17																	3808604		2203	4300	6503	SO:0001819	synonymous_variant	0			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.195C>T	17.37:g.3808604G>A			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.V65	ENST00000225538.3	37	c.195	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000108405		0.632	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	-	0	73	0	G	NM_002558		3808604	-1	tier1	-	no_errors	ENST00000225538	ensembl	human	known	74_37	silent	9.21	69	7	SNP	0.990	A	A	3808604	G	A	3808604	2	1	87	1	0	0	0	0	0	0	0	1	11378	929	33	3		3	P2RX1	17	3808604	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	294699	3808604	77386606	1564	24688											
PELP1	27043	genome.wustl.edu	37	chr17	4578192	4578192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccctgaagcattcccgccGaggccccacaaacctgcacc	9	5	7	20	2	0	1	0	1	0	0	2	2	2	1	7	1	3	2	7	1	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4578192G>A	ENST00000574876.1	-	12	1351	c.1334C>T	c.(1333-1335)tCg>tTg	p.S445L	PELP1_ENST00000572293.1_Missense_Mutation_p.S495L|PELP1_ENST00000436683.2_Missense_Mutation_p.S298L|PELP1_ENST00000269230.7_Missense_Mutation_p.S443L|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000301396.4_Missense_Mutation_p.S589L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	445					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CATTCCCGCCGAGGCCCCACA	0.592																																																	0													89	95	93					17																	4578192		1998	4159	6157	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"proline, glutamic acid and leucine rich protein 1"			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1334C>T	17.37:g.4578192G>A	ENSP00000461625:p.Ser445Leu		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.S589L	ENST00000574876.1	37	c.1766	CCDS58503.1	17	.	.	.	.	.	.	.	.	.	.	G	8.219	0.802070	0.16397	.	.	ENSG00000141456	ENST00000301396;ENST00000269230;ENST00000436683	T;T;T	0.47869	0.83;0.85;1.47	5.19	4.18	0.49190	Uncharacterised domain NUC202 (1);	0.145936	0.45867	D	0.000321	T	0.44222	0.1283	N	0.14661	0.345	0.19300	N	0.999976	D;D	0.61697	0.99;0.99	P;P	0.56127	0.792;0.792	T	0.35674	-0.9779	10	0.56958	D	0.05	-15.0872	13.568	0.61830	0.0:0.1687:0.8313:0.0	.	298;445	E7EV54;Q8IZL8	.;PELP1_HUMAN	L	589;443;298	ENSP00000301396:S589L;ENSP00000269230:S443L;ENSP00000416231:S298L	ENSP00000269230:S443L	S	-	2	0	AC091153.1	4524941	1.000000	0.71417	0.944000	0.38274	0.049000	0.14656	4.299000	0.59073	2.705000	0.92388	0.655000	0.94253	TCG	PELP1	-	pfam_Uncharacterised_NUC202	ENSG00000141456		0.592	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	-	0	60	0	G	NM_014389		4578192	-1	tier1	-	no_errors	ENST00000301396	ensembl	human	known	74_37	missense	8.96	61	6	SNP	0.294	A	A	4578192	G	A	4578192	3	1	87	1	0	0	0	0	1	0	0	0	11764	1059	37	1	2082	1	PELP1	17	4578192	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	769588	4578192	76617018	1565	24689											
CHRNE	1145	genome.wustl.edu	37	chr17	4804100	4804100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcacctgcccaggagcGgcacgctcagagaagtctct	8	7	12	14	2	3	1	2	0	1	1	4	3	3	2	2	3	2	3	2	3	1	1	rs370019023		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4804100G>T	ENST00000293780.4	-	8	915	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'Flank	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	302					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	GCCCAGGAGCGGCACGCTCAG	0.637																																																	0													43	43	43					17																	4804100		2203	4300	6503	SO:0001583	missense	0			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.905C>A	17.37:g.4804100G>T	ENSP00000293780:p.Pro302Gln		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.P302Q	ENST00000293780.4	37	c.905	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939328	0.92526	.	.	ENSG00000108556	ENST00000293780	D	0.93953	-3.32	4.95	4.95	0.65309	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.97851	0.9294	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98917	1.0782	10	0.87932	D	0	.	15.7235	0.77732	0.0:0.0:1.0:0.0	.	302	Q04844	ACHE_HUMAN	Q	302	ENSP00000293780:P302Q	ENSP00000293780:P302Q	P	-	2	0	CHRNE	4744879	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.800000	0.91900	2.575000	0.86900	0.655000	0.94253	CCG	CHRNE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000108556		0.637	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	-	0	121	0	G			4804100	-1	tier1	-	no_errors	ENST00000293780	ensembl	human	known	74_37	missense	10.53	85	10	SNP	1.000	T	T	4804100	G	T	4804100	3	4	87	1	0	0	0	0	1	0	0	0	3402	1116	39	2	596	2	CHRNE	17	4804100	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	225908	4804100	76391110	1566	24690											
CHRNE	1145	genome.wustl.edu	37	chr17	4805288	4805288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacctccactgcgcagaCgctgcggtagatggccggag	7	6	16	12	4	0	3	0	1	0	2	1	4	1	4	3	4	2	3	3	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4805288C>T	ENST00000293780.4	-	5	449	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	147					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	ACTGCGCAGACGCTGCGGTAG	0.597																																																	0													60	57	58					17																	4805288		2203	4300	6503	SO:0001583	missense	0			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1966	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, epsilon (muscle)"	100725	"cholinergic receptor, nicotinic, epsilon"			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.439G>A	17.37:g.4805288C>T	ENSP00000293780:p.Val147Ile		D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.V147I	ENST00000293780.4	37	c.439	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052290	0.55218	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.78	1.39	0.22231	Neurotransmitter-gated ion-channel ligand-binding (3);	0.269900	0.41396	D	0.000896	T	0.51058	0.1652	N	0.03608	-0.345	0.80722	D	1	B	0.34255	0.445	B	0.31869	0.137	T	0.48043	-0.9069	10	0.87932	D	0	.	7.1348	0.25523	0.0:0.2912:0.0:0.7088	.	147	Q04844	ACHE_HUMAN	I	147	ENSP00000293780:V147I	ENSP00000293780:V147I	V	-	1	0	CHRNE	4746067	0.436000	0.25586	0.981000	0.43875	0.792000	0.44763	-0.369000	0.07533	0.054000	0.16065	-0.367000	0.07326	GTC	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000108556		0.597	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	-	0	89	0	C			4805288	-1	tier1	-	no_errors	ENST00000293780	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	T	T	4805288	C	T	4805288	3	4	87	1	0	0	0	0	1	0	0	0	3402	536	19	1	1074	1	CHRNE	17	4805288	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1188	4805288	76389922	1567	24691											
PFN1	5216	genome.wustl.edu	37	chr17	4849207	4849207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacgaggtcagtactgggaAcgccgaaggtgggaggccat	11	5	17	8	3	1	1	1	0	0	1	1	5	1	3	2	5	2	1	2	5	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:4849207A>G	ENST00000225655.5	-	3	1030	c.411T>C	c.(409-411)cgT>cgC	p.R137R	PFN1_ENST00000574872.1_Silent_p.R101R	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	137					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						AGTACTGGGAACGCCGAAGGT	0.527																																																	0													102	72	82					17																	4849207		2203	4300	6503	SO:0001819	synonymous_variant	0			BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.411T>C	17.37:g.4849207A>G			Q53Y44	Silent	SNP	pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates	p.R137	ENST00000225655.5	37	c.411	CCDS11061.1	17																																																																																			PFN1	-	superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac	ENSG00000108518		0.527	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFN1	HGNC	protein_coding	OTTHUMT00000216853.1	-	0	118	0	A	NM_005022		4849207	-1	tier1	-	no_errors	ENST00000225655	ensembl	human	known	74_37	silent	16.51	91	18	SNP	0.998	G	G	4849207	A	G	4849207	2	3	87	1	0	0	0	0	0	0	0	1	11806	30	2	4		4	PFN1	17	4849207	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	43919	4849207	76346003	1568	24692											
ASGR1	432	genome.wustl.edu	37	chr17	7080615	7080615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggtccggagcagagaCgctgcaggaggggctgggga	8	3	22	8	3	0	1	0	0	0	1	1	6	1	4	1	8	2	4	1	8	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7080615C>T	ENST00000269299.3	-	3	500	c.101G>A	c.(100-102)cGt>cAt	p.R34H	ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000574388.1_Intron|ASGR1_ENST00000380920.4_5'UTR	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	34					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGAGCAGAGACGCTGCAGGAG	0.667											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													51	58	56					17																	7080615		2202	4300	6502	SO:0001583	missense	0				CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"C-type lectin domain containing"	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.101G>A	17.37:g.7080615C>T	ENSP00000269299:p.Arg34His	639	I3L1X1	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R34H	ENST00000269299.3	37	c.101	CCDS11089.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197582	0.79015	.	.	ENSG00000141505	ENST00000269299	T	0.34859	1.34	4.92	4.92	0.64577	Hepatic lectin, N-terminal (1);	0.000000	0.48767	D	0.000174	T	0.41373	0.1156	M	0.78456	2.415	0.80722	D	1	B	0.21753	0.06	B	0.18871	0.023	T	0.41070	-0.9529	10	0.59425	D	0.04	.	13.486	0.61366	0.0:1.0:0.0:0.0	.	34	P07306	ASGR1_HUMAN	H	34	ENSP00000269299:R34H	ENSP00000269299:R34H	R	-	2	0	ASGR1	7021339	0.366000	0.25014	0.215000	0.23724	0.877000	0.50540	3.347000	0.52200	2.544000	0.85801	0.561000	0.74099	CGT	ASGR1	-	pfam_Lectin_N	ENSG00000141505		0.667	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASGR1	HGNC	protein_coding	OTTHUMT00000220004.3	-	0	63	0	C	NM_001671		7080615	-1	tier1	-	no_errors	ENST00000269299	ensembl	human	known	74_37	missense	18.18	54	12	SNP	0.603	T	T	7080615	C	T	7080615	3	4	87	1	0	0	0	0	1	0	0	0	1040	536	19	1	802	1	ASGR1	17	7080615	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2231408	7080615	74114595	1569	24693											
CLDN7	1366	genome.wustl.edu	37	chr17	7165359	7165359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caactgcaggcccgaattggCcatttccgccctcagaaaac	11	7	8	15	2	1	1	1	0	0	1	2	2	2	1	4	2	3	1	4	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7165359C>A	ENST00000360325.7	-	1	438	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	CLDN7_ENST00000538261.3_Missense_Mutation_p.A2S|CLDN7_ENST00000571881.2_Missense_Mutation_p.A2S|RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.A2S|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000397317.4_Missense_Mutation_p.A2S	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	2					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CCCGAATTGGCCATTTCCGCC	0.617																																																	0													22	20	21					17																	7165359		2202	4299	6501	SO:0001583	missense	0			AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"Claudins"	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.4G>T	17.37:g.7165359C>A	ENSP00000353475:p.Ala2Ser		B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin7	p.A2S	ENST00000360325.7	37	c.4	CCDS11096.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.783344	0.96937	.	.	ENSG00000181885	ENST00000360325;ENST00000397317;ENST00000538261	D;D;D	0.87334	-2.1;-2.1;-2.24	5.03	5.03	0.67393	.	0.185876	0.46442	D	0.000292	D	0.92841	0.7723	M	0.76838	2.35	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.78314	0.987;0.991	D	0.93246	0.6630	10	0.62326	D	0.03	.	14.2115	0.65767	0.0:1.0:0.0:0.0	.	2;2	F5H496;O95471	.;CLD7_HUMAN	S	2	ENSP00000353475:A2S;ENSP00000396638:A2S;ENSP00000445131:A2S	ENSP00000353475:A2S	A	-	1	0	CLDN7	7106083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.449000	0.66619	2.499000	0.84300	0.462000	0.41574	GCC	CLDN7	-	NULL	ENSG00000181885		0.617	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN7	HGNC	protein_coding	OTTHUMT00000440204.2	-	0	71	0	C	NM_001307		7165359	-1	tier1	-	no_errors	ENST00000360325	ensembl	human	known	74_37	missense	15.38	66	12	SNP	1.000	A	A	7165359	C	A	7165359	3	1	87	1	0	0	0	0	1	0	0	0	3497	739	26	3	647	3	CLDN7	17	7165359	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	84744	7165359	74029851	1570	24694											
TMEM95	339168	genome.wustl.edu	37	chr17	7259514	7259514	+	Splice_Site	DEL	G	G	-																															tgcctctgctgtctcctgcaGggggcagcaccacgctgtac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7259514delG	ENST00000576060.1	+	5	355		c.e5-1		RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Splice_Site|TMEM95_ENST00000330767.4_Frame_Shift_Del_p.G119fs			Q3KNT9	TMM95_HUMAN	transmembrane protein 95							integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GTCTCCTGCAGGGGGCAGCAC	0.677											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													31	33	33					17																	7259514		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.329-1G>-	17.37:g.7259514delG		640	B7WPI7|Q6UXT3|Q8IW68	Frame_Shift_Del	DEL	NULL	p.G119fs	ENST00000576060.1	37	c.352		17																																																																																			TMEM95	-	NULL	ENSG00000182896		0.677	TMEM95-003	KNOWN	basic	protein_coding	TMEM95	HGNC	protein_coding	OTTHUMT00000440555.2		0	25	0	G	NM_198154	Intron	7259514	1	tier1		no_errors	ENST00000330767	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	1.000	-	-	7259514	G	-	7259514	8	5	87	1	0	1	0	1	0	0	1	0	16270	1000	35	0	370	0	TMEM95	17	7259514	Splice_Site	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	94155	7259514	73935696	1571	24695											
C17orf74	201243	genome.wustl.edu	37	chr17	7329696	7329696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcgtcgccgccgccGccgccaccgccgttgtcgcc	1	8	12	20	9	0	0	0	0	0	0	3	0	0	0	8	0	0	2	8	0	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7329696G>A	ENST00000333870.3	+	3	460	c.386G>A	c.(385-387)cGc>cAc	p.R129H	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Intron	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	129	Arg-rich.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				cgccgccgccgccgccaccgc	0.597																																																	0													50	59	56					17																	7329696		2021	4134	6155	SO:0001583	missense	0			BC044816	CCDS42255.1	17p13.1	2012-05-30			ENSG00000184560	ENSG00000184560			27315	protein-coding gene	gene with protein product						12477932	Standard	NM_175734		Approved		uc002ggw.3	Q0P670	OTTHUMG00000178190	ENST00000333870.3:c.386G>A	17.37:g.7329696G>A	ENSP00000328061:p.Arg129His			Missense_Mutation	SNP	NULL	p.R129H	ENST00000333870.3	37	c.386	CCDS42255.1	17	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622704	0.46840	.	.	ENSG00000184560	ENST00000333870	T	0.32515	1.45	3.93	-0.65	0.11457	.	0.572645	0.14001	N	0.348101	T	0.12475	0.0303	N	0.14661	0.345	0.09310	N	1	B	0.28636	0.218	B	0.16289	0.015	T	0.16928	-1.0386	10	0.30078	T	0.28	-6.2166	4.0508	0.09795	0.3123:0.1749:0.5128:0.0	.	129	Q0P670	CQ074_HUMAN	H	129	ENSP00000328061:R129H	ENSP00000328061:R129H	R	+	2	0	C17orf74	7270420	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.375000	0.02563	-0.161000	0.10983	0.491000	0.48974	CGC	C17orf74	-	NULL	ENSG00000184560		0.597	C17orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf74	HGNC	protein_coding	OTTHUMT00000440933.2	-	0	58	0	G	NM_175734		7329696	1	tier1	-	no_errors	ENST00000333870	ensembl	human	known	74_37	missense	23.91	33	11	SNP	0.000	A	A	7329696	G	A	7329696	3	1	87	1	0	0	0	0	1	0	0	0	1885	1087	38	1	396	1	C17orf74	17	7329696	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	70182	7329696	73865514	1572	24696											
TNFSF12	8742	genome.wustl.edu	37	chr17	7460641	7460641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggctgcccccttcctcaccTacttcggactcttccaggtt	5	12	7	17	1	2	0	1	0	1	0	5	1	4	1	5	3	2	2	5	3	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7460641T>C	ENST00000293825.6	+	7	987	c.724T>C	c.(724-726)Tac>Cac	p.Y242H	TNFSF13_ENST00000396545.4_5'Flank|TNFSF12_ENST00000557233.1_Intron|TNFSF13_ENST00000338784.4_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000483039.1_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000349228.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	242					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTTCCTCACCTACTTCGGACT	0.692																																																	0													39	38	38					17																	7460641		2203	4300	6503	SO:0001583	missense	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.724T>C	17.37:g.7460641T>C	ENSP00000293825:p.Tyr242His		Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.Y242H	ENST00000293825.6	37	c.724	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087489	0.76642	.	.	ENSG00000239697	ENST00000293825	D	0.95690	-3.78	4.76	3.67	0.42095	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.	.	.	.	D	0.94571	0.8251	L	0.48642	1.525	0.80722	D	1	P	0.41624	0.757	P	0.50934	0.654	D	0.94191	0.7441	9	0.87932	D	0	.	9.1418	0.36908	0.0:0.0893:0.0:0.9106	.	242	O43508	TNF12_HUMAN	H	242	ENSP00000293825:Y242H	ENSP00000293825:Y242H	Y	+	1	0	TNFSF12	7401365	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.259000	0.43259	1.917000	0.55516	0.459000	0.35465	TAC	TNFSF12	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000239697		0.692	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12	HGNC	protein_coding	OTTHUMT00000226951.2	-	0	13	0	T	NM_003809		7460641	1	tier1	-	no_errors	ENST00000293825	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	C	C	7460641	T	C	7460641	3	2	87	1	0	0	0	0	1	0	0	0	16350	1522	53	4	750	4	TNFSF12	17	7460641	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	130945	7460641	73734569	1573	24697											
EFNB3	1949	genome.wustl.edu	37	chr17	7608923	7608923	+	Frame_Shift_Del	DEL	C	C	-																															gccttggcggggtcatggggCccccccattctgggccgggg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7608923delC	ENST00000226091.2	+	1	404	c.7delC	c.(7-9)cccfs	p.P4fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	4					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGTCATGGGGCCCCCCCATTC	0.726																																																	0													8	11	10					17																	7608923		2119	4208	6327	SO:0001589	frameshift_variant	0			U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"Ephrins"	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.7delC	17.37:g.7608923delC	ENSP00000226091:p.Pro4fs		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Del	DEL	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.H5fs	ENST00000226091.2	37	c.7	CCDS11120.1	17																																																																																			EFNB3	-	NULL	ENSG00000108947		0.726	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB3	HGNC	protein_coding	OTTHUMT00000226965.1		0	79	0	C	NM_001406		7608923	1	tier1		no_errors	ENST00000226091	ensembl	human	known	74_37	frame_shift_del	21.62	58	16	DEL	0.965	-	-	7608923	C	-	7608923	7	5	87	1	0	1	0	1	0	0	0	0	4971	739	26	0	9	0	EFNB3	17	7608923	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	148282	7608923	73586287	1574	24698											
KDM6B	23135	genome.wustl.edu	37	chr17	7751858	7751859	+	In_Frame_Ins	INS	-	-	CAC																															actgctcctgctgtcgccgtINScaccaccaccaccaccacca																								rs59627144|rs377654044	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7751858_7751859insCAC	ENST00000448097.2	+	11	2583_2584	c.2252_2253insCAC	c.(2251-2256)gtcacc>gtCACcacc	p.762_763insT	KDM6B_ENST00000254846.5_In_Frame_Ins_p.762_763insT			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	762	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCTGTCGCCGTcaccaccacca	0.653																																																	0																																										SO:0001652	inframe_insertion	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"Chromatin-modifying enzymes / K-demethylases"	29012	protein-coding gene	gene with protein product		611577	"jumonji domain containing 3", "jumonji domain containing 3, histone lysine demethylase"	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2283_2285dupCAC	17.37:g.7751865_7751867dupCAC	ENSP00000412513:p.Thr763_Thr764dup		C9IZ40|Q96G33	In_Frame_Ins	INS	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.755in_frame_insT	ENST00000448097.2	37	c.2252_2253		17																																																																																			KDM6B	-	NULL	ENSG00000132510		0.653	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1		0	36	0	-	XM_043272		7751859	1	tier1		no_errors	ENST00000254846	ensembl	human	known	74_37	in_frame_ins	17.65	14	3	INS	0.000:0.000	CAC	CAC	7751859	-	CAC	7751858	7	5	87	1	0	1	1	0	0	0	0	0	8165	1667	58	0	2282	0	KDM6B	17	7751858	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	142935	7751858	73443352	1575	24699											
CHD3	1107	genome.wustl.edu	37	chr17	7801849	7801849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagaccctgcccagccccGcaagtataagaagaagaaga	16	3	11	11	1	0	5	0	0	0	5	0	6	0	6	4	1	2	2	4	1	7	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7801849G>A	ENST00000330494.7	+	13	2237	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	CHD3_ENST00000380358.4_Missense_Mutation_p.R755H|CHD3_ENST00000358181.4_Missense_Mutation_p.R696H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	696					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCAGCCCCGCAAGTATAAG	0.493																																																	0													72	71	71					17																	7801849		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2087G>A	17.37:g.7801849G>A	ENSP00000332628:p.Arg696His		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R696H	ENST00000330494.7	37	c.2087	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026598	0.54683	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.90504	-2.68;-2.61;-2.62	4.84	4.84	0.62591	.	0.000000	0.45126	D	0.000399	D	0.83022	0.5164	N	0.08118	0	0.39241	D	0.963867	D;D;D	0.64830	0.994;0.989;0.989	P;B;P	0.48488	0.579;0.375;0.474	D	0.83979	0.0331	10	0.39692	T	0.17	-15.1013	11.0653	0.47972	0.0884:0.0:0.9116:0.0	.	696;696;755	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	755;696;696	ENSP00000369716:R755H;ENSP00000350907:R696H;ENSP00000332628:R696H	ENSP00000332628:R696H	R	+	2	0	CHD3	7742574	0.025000	0.19082	0.998000	0.56505	0.723000	0.41478	1.662000	0.37418	2.686000	0.91538	0.561000	0.74099	CGC	CHD3	-	superfamily_P-loop_NTPase	ENSG00000170004		0.493	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0	35	0	G	NM_001005273		7801849	1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.997	A	A	7801849	G	A	7801849	3	1	87	1	0	0	0	0	1	0	0	0	3333	1087	38	1	2418	1	CHD3	17	7801849	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	49991	7801849	73393361	1576	24700											
CNTROB	116840	genome.wustl.edu	37	chr17	7839717	7839717	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcagagcctgcagaccCgagtgttagagctacagcaa	13	8	10	10	1	1	3	1	0	0	3	1	4	1	3	2	0	5	4	2	0	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:7839717C>T	ENST00000563694.1	+	5	1553	c.628C>T	c.(628-630)Cga>Tga	p.R210*	CNTROB_ENST00000380255.3_Nonsense_Mutation_p.R210*|CNTROB_ENST00000380262.3_Nonsense_Mutation_p.R210*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.R210*	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	210					centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CCTGCAGACCCGAGTGTTAGA	0.512																																																	0													112	111	111					17																	7839717		2203	4300	6503	SO:0001587	stop_gained	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.628C>T	17.37:g.7839717C>T	ENSP00000456335:p.Arg210*		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	NULL	p.R210*	ENST00000563694.1	37	c.628	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.197493	0.94960	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	5.85	5.85	0.93711	.	0.513743	0.17701	N	0.164914	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3957	14.5407	0.67990	0.0:0.8534:0.1465:0.0	.	.	.	.	X	210	.	ENSP00000369605:R210X	R	+	1	2	CNTROB	7780442	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.736000	0.47385	2.775000	0.95449	0.655000	0.94253	CGA	CNTROB	-	NULL	ENSG00000170037		0.512	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	-	0	59	0	C	NM_053051		7839717	1	tier1	-	no_errors	ENST00000380262	ensembl	human	known	74_37	nonsense	21.74	36	10	SNP	0.998	T	T	7839717	C	T	7839717	4	4	87	1	0	0	0	0	0	1	0	0	3658	644	23	1	646	1	CNTROB	17	7839717	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	37868	7839717	73355493	1577	24701											
AURKB	9212	genome.wustl.edu	37	chr17	8110190	8110190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaaaatagttgtagagacGcaggatgttgggatggctgg	13	10	15	3	1	0	1	0	0	0	1	0	4	0	3	0	4	0	5	0	4	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8110190G>T	ENST00000585124.1	-	6	508	c.415C>A	c.(415-417)Cgt>Agt	p.R139S	AURKB_ENST00000535053.1_Intron|AURKB_ENST00000316199.6_Missense_Mutation_p.R140S|AURKB_ENST00000534871.1_Missense_Mutation_p.R98S|AURKB_ENST00000578549.1_Missense_Mutation_p.R107S	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTAGAGACGCAGGATGTTG	0.522																																					NSCLC(134;1161 2470 43664 51568)												0													37	38	37					17																	8110190		2203	4300	6503	SO:0001583	missense	0			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.415C>A	17.37:g.8110190G>T	ENSP00000463999:p.Arg139Ser		B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R139S	ENST00000585124.1	37	c.415	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428445	0.43122	.	.	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.08634	3.07	6.07	5.09	0.68999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052151	0.85682	D	0.000000	T	0.16171	0.0389	L	0.47190	1.495	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.52554	0.702;0.702	T	0.00468	-1.1721	10	0.87932	D	0	-21.8185	14.3583	0.66752	0.0:0.0:0.8508:0.1492	.	139;139	C7G533;Q96GD4	.;AURKB_HUMAN	S	139;98	ENSP00000443869:R98S	ENSP00000313950:R139S	R	-	1	0	AURKB	8050915	1.000000	0.71417	0.993000	0.49108	0.818000	0.46254	4.644000	0.61397	1.535000	0.49220	0.655000	0.94253	CGT	AURKB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178999		0.522	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	HGNC	protein_coding	OTTHUMT00000226995.2		0	74	0	G	NM_004217		8110190	-1			no_errors	ENST00000585124	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	8110190	G	T	8110190	3	4	87	1	0	0	0	0	1	0	0	0	1224	1087	38	2	635	2	AURKB	17	8110190	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	270473	8110190	73085020	1578	24702											
C17orf68	80169	genome.wustl.edu	37	chr17	8135521	8135521	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcaggatcagggcatcAgccagaaagaactggacata	16	4	12	9	0	2	2	2	0	0	2	2	4	2	4	1	4	2	2	1	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8135521A>G	ENST00000315684.8	-	13	2092	c.2085T>C	c.(2083-2085)gcT>gcC	p.A695A		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	695					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TCAGGGCATCAGCCAGAAAGA	0.542																																																	0													22	25	24					17																	8135521		2075	4196	6271	SO:0001819	synonymous_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2085T>C	17.37:g.8135521A>G			B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	NULL	p.A695	ENST00000315684.8	37	c.2085	CCDS42259.1	17																																																																																			CTC1	-	NULL	ENSG00000178971		0.542	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	-	0	56	0	A	NM_025099		8135521	-1	tier1	-	no_errors	ENST00000315684	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.010	G	G	8135521	A	G	8135521	2	3	87	1	0	0	0	0	0	0	0	1	1882	175	7	4		4	C17orf68	17	8135521	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	25331	8135521	73059689	1579	24703											
ARHGEF15	22899	genome.wustl.edu	37	chr17	8222397	8222397	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggttccggatccatcTggaccccctaccttccgcct	6	9	8	18	2	1	0	0	0	1	0	4	2	4	2	7	3	2	2	7	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8222397T>G	ENST00000361926.3	+	13	2216	c.2106T>G	c.(2104-2106)tcT>tcG	p.S702S	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Silent_p.S702S|ARHGEF15_ENST00000582060.1_3'UTR	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	702					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGGATCCATCTGGACCCCCTA	0.617																																																	0													82	87	85					17																	8222397		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"Rho guanine nucleotide exchange factors"	15590	protein-coding gene	gene with protein product	"Rho guanine exchange factor (GEF) 15"	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2106T>G	17.37:g.8222397T>G			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.S702	ENST00000361926.3	37	c.2106	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2		0	32	0	T	NM_173728		8222397	1			no_errors	ENST00000361926	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.998	G	G	8222397	T	G	8222397	2	3	87	1	0	0	0	0	0	0	0	1	898	1567	55	4		4	ARHGEF15	17	8222397	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	86876	8222397	72972813	1580	24704											
CCDC42	146849	genome.wustl.edu	37	chr17	8638451	8638451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtcctccagtgccaccTcagtcacctccttcaggtgc	5	10	10	16	0	3	0	3	0	0	0	6	0	6	0	6	2	2	0	6	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:8638451T>C	ENST00000293845.3	-	6	1062	c.836A>G	c.(835-837)gAg>gGg	p.E279G	CCDC42_ENST00000539522.2_Missense_Mutation_p.E205G	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	279								p.E279V(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CAGTGCCACCTCAGTCACCTC	0.617																																																	1	Substitution - Missense(1)	large_intestine(1)											108	90	96					17																	8638451		2203	4300	6503	SO:0001583	missense	0			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.836A>G	17.37:g.8638451T>C	ENSP00000293845:p.Glu279Gly		Q8N6Q0	Missense_Mutation	SNP	NULL	p.E279G	ENST00000293845.3	37	c.836	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	T	0.895	-0.724117	0.03158	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.23950	1.88;1.89	5.11	-10.2	0.00374	.	3.909620	0.00575	N	0.000317	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.19549	-1.0302	10	0.23891	T	0.37	2.4966	1.4548	0.02383	0.176:0.3008:0.2736:0.2496	.	279	Q96M95	CCD42_HUMAN	G	279;205	ENSP00000293845:E279G;ENSP00000444359:E205G	ENSP00000293845:E279G	E	-	2	0	CCDC42	8579176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.023000	0.01438	-2.660000	0.00419	-1.276000	0.01395	GAG	CCDC42	-	NULL	ENSG00000161973		0.617	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1		0	43	0	T	NM_144681		8638451	-1			no_errors	ENST00000293845	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.000	C	C	8638451	T	C	8638451	3	2	87	1	0	0	0	0	1	0	0	0	2821	1551	54	4	122	4	CCDC42	17	8638451	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	416054	8638451	72556759	1581	24705											
MYH8	4626	genome.wustl.edu	37	chr17	10309410	10309410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaggaatcccctacagaCagcttgtgttcttgttataa	11	14	7	9	0	1	1	0	0	1	1	2	2	2	2	2	1	2	3	2	1	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10309410C>T	ENST00000403437.2	-	21	2474	c.2380G>A	c.(2380-2382)Gtc>Atc	p.V794I	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	794	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCCCTACAGACAGCTTGTGTT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													171	165	167					17																	10309410		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2380G>A	17.37:g.10309410C>T	ENSP00000384330:p.Val794Ile		Q14910	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V794I	ENST00000403437.2	37	c.2380	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	C	7.582	0.668949	0.14776	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.71817	-0.6	5.22	3.19	0.36642	.	0.587579	0.13389	U	0.391576	T	0.54029	0.1833	L	0.27053	0.805	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.35943	-0.9768	10	0.22706	T	0.39	.	8.7515	0.34618	0.0:0.7029:0.0:0.2971	.	794	P13535	MYH8_HUMAN	I	794	ENSP00000384330:V794I	ENSP00000252173:V794I	V	-	1	0	MYH8	10250135	0.000000	0.05858	0.937000	0.37676	0.985000	0.73830	-0.076000	0.11412	1.451000	0.47736	0.650000	0.86243	GTC	MYH8	-	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	ENSG00000133020		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	-	0	53	0	C	NM_002472		10309410	-1	tier1	-	no_errors	ENST00000403437	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.114	T	T	10309410	C	T	10309410	3	4	87	1	0	0	0	0	1	0	0	0	10079	478	17	3	3513	3	MYH8	17	10309410	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1670959	10309410	70885800	1582	24706											
MYH8	4626	genome.wustl.edu	37	chr17	10318470	10318470	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgccagcttccctgtagtAccaaagtggattctaatgaa	12	11	9	9	0	1	1	0	1	1	0	2	3	2	2	3	1	3	3	3	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10318470A>G	ENST00000403437.2	-	9	862	c.768T>C	c.(766-768)ggT>ggC	p.G256G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	256	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.G256G(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCTGTAGTACCAAAGTGGA	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								1	Substitution - coding silent(1)	breast(1)											138	147	144					17																	10318470		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.768T>C	17.37:g.10318470A>G			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G256	ENST00000403437.2	37	c.768	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133020		0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2		0	60	0	A	NM_002472		10318470	-1			no_errors	ENST00000403437	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.725	G	G	10318470	A	G	10318470	2	3	87	1	0	0	0	0	0	0	0	1	10079	378	14	4		4	MYH8	17	10318470	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	9060	10318470	70876740	1583	24707											
MYH4	4622	genome.wustl.edu	37	chr17	10348449	10348449	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccttcttcagctcctcAgccatcatggcagcctagtt	6	14	7	14	0	4	0	3	0	1	0	6	0	6	0	4	1	3	4	4	1	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10348449A>G	ENST00000255381.2	-	37	5420	c.5310T>C	c.(5308-5310)gcT>gcC	p.A1770A	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1770					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGCTCCTCAGCCATCATGG	0.483																																																	0													129	126	127					17																	10348449		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5310T>C	17.37:g.10348449A>G				Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1770	ENST00000255381.2	37	c.5310	CCDS11154.1	17																																																																																			MYH4	-	pfam_Myosin_tail	ENSG00000264424		0.483	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0	116	0	A	NM_017533		10348449	-1	tier1	-	no_errors	ENST00000255381	ensembl	human	known	74_37	silent	26.83	90	33	SNP	0.010	G	G	10348449	A	G	10348449	2	3	87	1	0	0	0	0	0	0	0	1	10075	175	7	4		4	MYH4	17	10348449	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	29979	10348449	70846761	1584	24708											
MYH2	4620	genome.wustl.edu	37	chr17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctctgtgCgctggatggcgtccgtctcg	2	11	11	17	4	2	0	0	0	2	0	7	1	6	1	5	2	2	2	5	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1388H(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCTGTGCGCTGGATGGC	0.512																																																	2	Substitution - Missense(2)	ovary(1)|kidney(1)											175	162	166					17																	10429940		2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"Myosins / Myosin superfamily : Class II"	7572	protein-coding gene	gene with protein product		160740	"myosin, heavy polypeptide 2, skeletal muscle, adult", "inclusion body myopathy 3, autosomal dominant"	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4163G>A	17.37:g.10429940C>T	ENSP00000245503:p.Arg1388His		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1388H	ENST00000245503.5	37	c.4163	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.504663	0.96371	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	T;T	0.80480	-1.38;-1.38	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.91402	0.7287	M	0.89030	3	0.58432	D	0.999997	D	0.89917	1.0	D	0.74023	0.982	D	0.92664	0.6144	10	0.87932	D	0	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	1388	Q9UKX2	MYH2_HUMAN	H	1388	ENSP00000245503:R1388H;ENSP00000380367:R1388H	ENSP00000245503:R1388H	R	-	2	0	MYH2	10370665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.703000	0.92315	0.655000	0.94253	CGC	MYH2	-	pfam_Myosin_tail,superfamily_Ribosomal_L29	ENSG00000125414		0.512	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0	92	0	C	NM_017534		10429940	-1	tier1	-	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	10429940	C	T	10429940	3	4	87	1	0	0	0	0	1	0	0	0	10073	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	81491	10429940	70765270	1585	24709											
MYH3	4621	genome.wustl.edu	37	chr17	10543993	10543993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggattgcactggcattcaGcactcggtatctgcattgta	9	12	11	9	1	2	0	1	0	1	0	3	1	2	1	0	3	3	6	0	3	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10543993G>T	ENST00000583535.1	-	20	2263	c.2176C>A	c.(2176-2178)Ctg>Atg	p.L726M	MYH3_ENST00000226209.7_Missense_Mutation_p.L726M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	726	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ctggcattcagcactcggtat	0.443																																																	0													94	81	86					17																	10543993		2203	4300	6503	SO:0001583	missense	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.2176C>A	17.37:g.10543993G>T	ENSP00000464317:p.Leu726Met		Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L726M	ENST00000583535.1	37	c.2176	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682653	0.47991	.	.	ENSG00000109063	ENST00000226209	D	0.92299	-3.01	5.74	0.32	0.15878	Myosin head, motor domain (2);	.	.	.	.	D	0.96790	0.8952	H	0.96111	3.77	0.33476	D	0.58687	D	0.89917	1.0	D	0.87578	0.998	D	0.96407	0.9301	9	0.72032	D	0.01	.	10.9126	0.47118	0.3212:0.0:0.6788:0.0	.	726	P11055	MYH3_HUMAN	M	726	ENSP00000226209:L726M	ENSP00000226209:L726M	L	-	1	2	MYH3	10484718	0.007000	0.16637	0.994000	0.49952	0.815000	0.46073	0.167000	0.16602	0.154000	0.19237	0.561000	0.74099	CTG	MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109063		0.443	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2		0	44	0	G	NM_002470		10543993	-1			no_errors	ENST00000226209	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.901	T	T	10543993	G	T	10543993	3	4	87	1	0	0	0	0	1	0	0	0	10074	962	34	3	3734	3	MYH3	17	10543993	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	114053	10543993	70651217	1586	24710											
MYH3	4621	genome.wustl.edu	37	chr17	10546239	10546239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactcctcctgctccagcacGaacatgtggtggttgaaaaa	11	10	9	11	1	0	1	0	1	0	0	3	2	3	1	3	2	4	3	3	2	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10546239G>A	ENST00000583535.1	-	15	1572	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	MYH3_ENST00000226209.7_Silent_p.F495F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	495	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCCAGCACGAACATGTGGT	0.463																																																	0													163	143	150					17																	10546239		2203	4297	6500	SO:0001819	synonymous_variant	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1485C>T	17.37:g.10546239G>A			Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F495	ENST00000583535.1	37	c.1485	CCDS11157.1	17																																																																																			MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000109063		0.463	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	227	0	G	NM_002470		10546239	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	silent	28.78	146	59	SNP	1.000	A	A	10546239	G	A	10546239	2	1	87	1	0	0	0	0	0	0	0	1	10074	1049	37	1		1	MYH3	17	10546239	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2246	10546239	70648971	1587	24711											
MYH3	4621	genome.wustl.edu	37	chr17	10546312	10546312	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctgctccaggctgttaTactaataaaaaaatacaaca	18	9	5	9	0	0	0	0	0	0	0	1	0	1	0	1	1	5	4	1	1	9	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:10546312T>A	ENST00000583535.1	-	15	1499	c.1412A>T	c.(1411-1413)tAt>tTt	p.Y471F	MYH3_ENST00000226209.7_Splice_Site_p.Y471F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	471	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGGCTGTTATACTAATAAAA	0.418																																																	0													91	85	87					17																	10546312		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"Myosins / Myosin superfamily : Class II"	7573	protein-coding gene	gene with protein product	"myosin, skeletal, heavy chain, embryonic 1", "muscle embryonic myosin heavy chain 3"	160720	"myosin, heavy polypeptide 3, skeletal muscle, embryonic"			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1411-1A>T	17.37:g.10546312T>A			Q15492	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Y471F	ENST00000583535.1	37	c.1412	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	T	1.482	-0.556895	0.03967	.	.	ENSG00000109063	ENST00000226209	D	0.86865	-2.18	4.6	3.48	0.39840	Myosin head, motor domain (3);	.	.	.	.	T	0.63663	0.2530	N	0.01729	-0.75	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.58973	-0.7541	9	0.02654	T	1	.	9.1646	0.37043	0.4127:0.0:0.0:0.5873	.	471	P11055	MYH3_HUMAN	F	471	ENSP00000226209:Y471F	ENSP00000226209:Y471F	Y	-	2	0	MYH3	10487037	0.999000	0.42202	0.996000	0.52242	0.982000	0.71751	1.938000	0.40203	0.861000	0.35504	0.528000	0.53228	TAT	MYH3	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000109063		0.418	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	-	0	143	0	T	NM_002470	Missense_Mutation	10546312	-1	tier1	-	no_errors	ENST00000226209	ensembl	human	known	74_37	missense	10.94	114	14	SNP	1.000	A	A	10546312	T	A	10546312	5	1	87	1	0	0	0	0	0	0	1	0	10074	1420	49	5	4518	5	MYH3	17	10546312	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	73	10546312	70648898	1588	24712											
NT5M	56953	genome.wustl.edu	37	chr17	17250123	17250123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcccacccacaggggcCgagccaacccccagctggga	8	4	11	18	1	0	0	0	0	0	0	1	2	1	1	6	3	3	2	6	3	1	1	rs142120102	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:17250123C>T	ENST00000389022.4	+	5	765	c.549C>T	c.(547-549)gcC>gcT	p.A183A	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	183					dephosphorylation (GO:0016311)|DNA replication (GO:0006260)|dUMP catabolic process (GO:0046079)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CCACAGGGGCCGAGCCAACCC	0.677																																																	0								C		5,4401	9.9+/-24.2	0,5,2198	34	39	37		549	-9.4	0.7	17	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	NT5M	NM_020201.3		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		183/229	17250123	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0			AF210652	CCDS32581.1	17p11.2	2007-08-01	2002-05-23		ENSG00000205309	ENSG00000205309	3.1.3.5		15769	protein-coding gene	gene with protein product		605292	"5' nucleotidase, mitochondrial"			10899995	Standard	XM_005256731		Approved	dNT-2, dNT2, mdN	uc002grf.3	Q9NPB1	OTTHUMG00000059277	ENST00000389022.4:c.549C>T	17.37:g.17250123C>T				Silent	SNP	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	p.A183	ENST00000389022.4	37	c.549	CCDS32581.1	17																																																																																			NT5M	-	pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom	ENSG00000205309		0.677	NT5M-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5M	HGNC	protein_coding	OTTHUMT00000446045.1	-	0	86	0	C			17250123	1	tier1	rs142120102	no_errors	ENST00000389022	ensembl	human	known	74_37	silent	12.70	55	8	SNP	0.038	T	T	17250123	C	T	17250123	2	4	87	1	0	0	0	0	0	0	0	1	10733	639	23	1		1	NT5M	17	17250123	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6703811	17250123	63945087	1589	24713											
MYO15A	51168	genome.wustl.edu	37	chr17	18058717	18058717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtggccaggaggccggCgggcagctgcgggtcctgcg	5	4	21	11	4	0	0	0	0	0	0	1	1	1	1	3	7	3	2	3	7	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:18058717C>T	ENST00000205890.5	+	47	8768	c.8430C>T	c.(8428-8430)ggC>ggT	p.G2810G	MYO15A_ENST00000585180.1_Missense_Mutation_p.R73W|MYO15A_ENST00000418233.3_Silent_p.G74G	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2810	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGAGGCCGGCGGGCAGCTGC	0.647																																																	0													43	53	50					17																	18058717		2089	4231	6320	SO:0001819	synonymous_variant	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8430C>T	17.37:g.18058717C>T			B4DFC7	Missense_Mutation	SNP	NULL	p.R73W	ENST00000205890.5	37	c.217	CCDS42271.1	17																																																																																			MYO15A	-	NULL	ENSG00000091536		0.647	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	72	0	C	NM_016239		18058717	1	tier1	-	no_errors	ENST00000585180	ensembl	human	putative	74_37	missense	29.03	44	18	SNP	0.000	T	T	18058717	C	T	18058717	2	4	87	1	0	0	0	0	0	0	0	1	10101	755	27	1		1	MYO15A	17	18058717	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	808594	18058717	63136493	1590	24714											
LLGL1	3996	genome.wustl.edu	37	chr17	18138543	18138543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacttgctcggcccacGtggccagtgtccccgccaag	7	7	10	17	3	1	0	1	0	0	0	3	0	2	0	5	2	1	1	5	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:18138543G>A	ENST00000316843.4	+	10	1297	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	401					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CTCGGCCCACGTGGCCAGTGT	0.677																																																	0													21	23	22					17																	18138543		2203	4295	6498	SO:0001583	missense	0				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"WD repeat domain containing"	6628	protein-coding gene	gene with protein product		600966	"lethal giant larvae (Drosophila) homolog 1"	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.1201G>A	17.37:g.18138543G>A	ENSP00000321537:p.Val401Met		A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.V401M	ENST00000316843.4	37	c.1201	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140070	0.56936	.	.	ENSG00000131899	ENST00000316843	T	0.06608	3.28	6.02	3.88	0.44766	WD40 repeat-like-containing domain (1);	0.114079	0.64402	D	0.000013	T	0.12050	0.0293	M	0.72118	2.19	0.35575	D	0.80582	D	0.61697	0.99	P	0.51055	0.657	T	0.09997	-1.0649	10	0.62326	D	0.03	-29.3094	4.8332	0.13451	0.3782:0.0:0.6218:0.0	.	401	Q15334	L2GL1_HUMAN	M	401	ENSP00000321537:V401M	ENSP00000321537:V401M	V	+	1	0	LLGL1	18079268	0.995000	0.38212	0.065000	0.19835	0.458000	0.32498	2.798000	0.47884	1.578000	0.49821	0.650000	0.86243	GTG	LLGL1	-	superfamily_WD40_repeat_dom	ENSG00000131899		0.677	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	-	0	38	0	G			18138543	1	tier1	-	no_errors	ENST00000316843	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.926	A	A	18138543	G	A	18138543	3	1	87	1	0	0	0	0	1	0	0	0	8863	1145	40	1	1239	1	LLGL1	17	18138543	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	79826	18138543	63056667	1591	24715											
FBXW10	10517	genome.wustl.edu	37	chr17	18647920	18647920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagaagatgaaagagatCttgtactggtttgcgaacag	15	9	12	5	1	1	4	0	1	1	3	1	7	1	4	0	1	4	2	0	1	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:18647920C>T	ENST00000395665.4	+	1	584	c.363C>T	c.(361-363)atC>atT	p.I121I	FBXW10_ENST00000308799.4_Silent_p.I121I|FBXW10_ENST00000301938.4_Silent_p.I121I|FBXW10_ENST00000395667.1_Silent_p.I121I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	121										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGAAAGAGATCTTGTACTGGT	0.463																																																	0													155	154	154					17																	18647920		2203	4298	6501	SO:0001819	synonymous_variant	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"F-boxes / WD-40 domains", "WD repeat domain containing"	1211	protein-coding gene	gene with protein product		611679	"chromosome 17 open reading frame 1A", "F-box and WD-40 domain protein 10"	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.363C>T	17.37:g.18647920C>T			C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I121	ENST00000395665.4	37	c.363	CCDS11199.3	17																																																																																			FBXW10	-	NULL	ENSG00000171931		0.463	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	-	0	103	0	C	NM_031456		18647920	1	tier1	-	no_errors	ENST00000308799	ensembl	human	known	74_37	silent	14.06	110	18	SNP	0.005	T	T	18647920	C	T	18647920	2	4	87	1	0	0	0	0	0	0	0	1	5785	903	32	3		3	FBXW10	17	18647920	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	509377	18647920	62547290	1592	24716											
USP22	23326	genome.wustl.edu	37	chr17	20914527	20914527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttccccgtttaccacgttgCcctcgctccctgggctcagg	3	12	9	17	3	1	0	1	0	0	0	4	0	3	0	5	2	2	4	5	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:20914527C>T	ENST00000261497.4	-	8	1243	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	USP22_ENST00000537526.2_Missense_Mutation_p.G335D|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	347	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TACCACGTTGCCCTCGCTCCC	0.657																																																	0													33	38	36					17																	20914527		2068	4206	6274	SO:0001583	missense	0			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"Ubiquitin-specific peptidases"	12621	protein-coding gene	gene with protein product		612116	"ubiquitin specific protease 22", "ubiquitin specific peptidase 3-like"	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.1040G>A	17.37:g.20914527C>T	ENSP00000261497:p.Gly347Asp		A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.G347D	ENST00000261497.4	37	c.1040	CCDS42285.1	17	.	.	.	.	.	.	.	.	.	.	C	9.486	1.099331	0.20552	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.09350	2.99;2.99	3.9	3.9	0.45041	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.212247	0.38164	N	0.001789	T	0.07007	0.0178	N	0.17474	0.49	0.42644	D	0.993424	B;B	0.10296	0.003;0.0	B;B	0.10450	0.004;0.005	T	0.31024	-0.9958	10	0.22109	T	0.4	.	12.237	0.54522	0.0:0.8279:0.1721:0.0	.	335;347	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	D	415;335;347	ENSP00000440950:G335D;ENSP00000261497:G347D	ENSP00000261497:G347D	G	-	2	0	USP22	20855119	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	2.445000	0.44899	1.894000	0.54839	0.558000	0.71614	GGC	USP22	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000124422		0.657	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	-	0	56	0	C			20914527	-1	tier1	-	no_errors	ENST00000261497	ensembl	human	known	74_37	missense	25.00	38	13	SNP	1.000	T	T	20914527	C	T	20914527	3	4	87	1	0	0	0	0	1	0	0	0	17103	739	26	3	561	3	USP22	17	20914527	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2266607	20914527	60280683	1593	24717											
KSR1	8844	genome.wustl.edu	37	chr17	25915549	25915549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggagggatatcgggctgtCggtgacgcacaggtaggcac	9	6	17	9	4	0	1	0	1	0	0	2	3	0	3	0	6	0	4	0	6	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:25915549C>T	ENST00000319524.6	+	6	1034	c.1034C>T	c.(1033-1035)tCg>tTg	p.S345L	KSR1_ENST00000398988.3_Missense_Mutation_p.S208L|KSR1_ENST00000268763.6_Missense_Mutation_p.S208L|KSR1_ENST00000509603.2_Missense_Mutation_p.S345L|KSR1_ENST00000581975.1_3'UTR			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	345					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATCGGGCTGTCGGTGACGCAC	0.647																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0													26	27	27					17																	25915549		2064	4193	6257	SO:0001583	missense	0			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.1034C>T	17.37:g.25915549C>T	ENSP00000323178:p.Ser345Leu		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S345L	ENST00000319524.6	37	c.1034		17	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851851	0.51270	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.56103	0.48;0.48;0.48	6.03	6.03	0.97812	.	0.287776	0.39615	N	0.001320	T	0.54983	0.1892	M	0.77103	2.36	0.41827	D	0.99005	P;P	0.43287	0.802;0.6	B;B	0.33521	0.053;0.165	T	0.63238	-0.6682	10	0.52906	T	0.07	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	343;345	Q8IVT5;F5H0K8	KSR1_HUMAN;.	L	345;345;208;208	ENSP00000323178:S345L;ENSP00000438795:S345L;ENSP00000268763:S208L	ENSP00000268763:S208L	S	+	2	0	KSR1	22939676	1.000000	0.71417	0.136000	0.22124	0.028000	0.11728	7.158000	0.77470	2.861000	0.98227	0.655000	0.94253	TCG	KSR1	-	NULL	ENSG00000141068		0.647	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		-	0	87	0	C	NM_014238		25915549	1	tier1	-	no_errors	ENST00000319524	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.867	T	T	25915549	C	T	25915549	3	4	87	1	0	0	0	0	1	0	0	0	8609	893	31	1	633	1	KSR1	17	25915549	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5001022	25915549	55279661	1594	24718											
PIGS	94005	genome.wustl.edu	37	chr17	26888605	26888605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggtgcattatcccccGcaccactgctgtcctcttgg	4	11	8	18	2	1	0	0	0	1	0	4	0	4	0	5	2	2	3	5	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:26888605G>A	ENST00000308360.7	-	6	886	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Missense_Mutation_p.R163W|PIGS_ENST00000543734.1_Missense_Mutation_p.R110W	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	171					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.R171W(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ATTATCCCCCGCACCACTGCT	0.552																																																	1	Substitution - Missense(1)	endometrium(1)											60	48	52					17																	26888605		2203	4300	6503	SO:0001583	missense	0				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"Phosphatidylinositol glycan anchor biosynthesis"	14937	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610271	"phosphatidylinositol glycan, class S"				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.511C>T	17.37:g.26888605G>A	ENSP00000309430:p.Arg171Trp		Q6UVX6	Missense_Mutation	SNP	pfam_PtdIno-glycan_biosynth_class_S	p.R171W	ENST00000308360.7	37	c.511	CCDS11235.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264694	0.59431	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.46063	0.88;0.88;0.88	5.87	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.70595	2.14	0.39697	D	0.971131	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.981	T	0.57183	-0.7855	10	0.42905	T	0.14	-20.7512	7.1631	0.25675	0.0783:0.0:0.5874:0.3344	.	171;163	Q96S52;Q96S52-2	PIGS_HUMAN;.	W	163;171;110	ENSP00000378755:R163W;ENSP00000309430:R171W;ENSP00000438447:R110W	ENSP00000309430:R171W	R	-	1	2	PIGS	23912732	0.908000	0.30866	0.653000	0.29593	0.597000	0.36814	1.044000	0.30329	0.751000	0.32900	0.655000	0.94253	CGG	PIGS	-	pfam_PtdIno-glycan_biosynth_class_S	ENSG00000087111		0.552	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGS	HGNC	protein_coding	OTTHUMT00000255833.3		0	37	0	G	NM_033198		26888605	-1			no_errors	ENST00000308360	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.688	A	A	26888605	G	A	26888605	3	1	87	1	0	0	0	0	1	0	0	0	11937	1086	38	1	1184	1	PIGS	17	26888605	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	973056	26888605	54306605	1595	24719											
SUPT6H	6830	genome.wustl.edu	37	chr17	27002426	27002426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctacccagatattgaCgacttcattgtggatgatga	10	15	8	8	1	1	4	1	3	0	1	2	6	2	5	2	1	1	0	2	1	2	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27002426C>T	ENST00000314616.6	+	6	829	c.546C>T	c.(544-546)gaC>gaT	p.D182D	SUPT6H_ENST00000347486.4_Silent_p.D182D|AC010761.13_ENST00000578819.1_RNA	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	182	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGATATTGACGACTTCATTG	0.502																																																	0													98	92	94					17																	27002426		2203	4300	6503	SO:0001819	synonymous_variant	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.546C>T	17.37:g.27002426C>T			A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.D182	ENST00000314616.6	37	c.546	CCDS32596.1	17																																																																																			SUPT6H	-	pirsf_TF_Spt6	ENSG00000109111		0.502	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	29	0	C	NM_003170		27002426	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.115	T	T	27002426	C	T	27002426	2	4	87	1	0	0	0	0	0	0	0	1	15447	535	19	1		1	SUPT6H	17	27002426	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	113821	27002426	54192784	1596	24720											
SUPT6H	6830	genome.wustl.edu	37	chr17	27028124	27028124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccctcttccagctccCggcaacggcagcagcagcca	8	4	9	20	2	1	0	0	0	1	0	3	0	3	0	5	2	6	5	5	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27028124C>T	ENST00000314616.6	+	36	5255	c.4972C>T	c.(4972-4974)Cgg>Tgg	p.R1658W	PROCA1_ENST00000579650.1_5'Flank|SUPT6H_ENST00000347486.4_Missense_Mutation_p.R1658W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1658	Interaction with histone H2B and H3.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTCCAGCTCCCGGCAACGGCA	0.637																																																	0													89	86	87					17																	27028124		2203	4300	6503	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"SH2 domain containing"	11470	protein-coding gene	gene with protein product		601333	"suppressor of Ty (S.cerevisiae) 6 homolog"			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4972C>T	17.37:g.27028124C>T	ENSP00000319104:p.Arg1658Trp		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R1658W	ENST00000314616.6	37	c.4972	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627920	0.46944	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.23	1.83	0.25207	.	0.644741	0.15858	N	0.241180	T	0.34164	0.0888	L	0.36672	1.1	0.41982	D	0.990809	P	0.40931	0.733	B	0.26969	0.075	T	0.21381	-1.0247	9	0.62326	D	0.03	-3.284	9.4444	0.38688	0.5815:0.2989:0.1197:0.0	.	1658	Q7KZ85	SPT6H_HUMAN	W	1658;658	.	ENSP00000319104:R1658W	R	+	1	2	SUPT6H	24052251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.747000	0.38298	0.558000	0.29135	0.650000	0.86243	CGG	SUPT6H	-	NULL	ENSG00000109111		0.637	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	-	0	45	0	C	NM_003170		27028124	1	tier1	-	no_errors	ENST00000314616	ensembl	human	known	74_37	missense	41.67	28	20	SNP	0.981	T	T	27028124	C	T	27028124	3	4	87	1	0	0	0	0	1	0	0	0	15447	643	23	1	5110	1	SUPT6H	17	27028124	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	25698	27028124	54167086	1597	24721											
TLCD1	116238	genome.wustl.edu	37	chr17	27051859	27051859	+	Frame_Shift_Del	DEL	C	C	-																															ccaccagtagtgttaagacaCccccaccgacaaagctgctc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27051859delC	ENST00000292090.3	-	4	523	c.413delG	c.(412-414)ggtfs	p.G138fs	TLCD1_ENST00000394933.3_Frame_Shift_Del_p.G91fs|AC010761.8_ENST00000582718.1_RNA|AC010761.14_ENST00000587898.1_RNA|SNORD4B_ENST00000459083.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4A_ENST00000459174.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	138	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TGTTAAGACACCCCCACCGAC	0.498																																																	0													69	68	69					17																	27051859		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.413delG	17.37:g.27051859delC	ENSP00000292090:p.Gly138fs		A8MYP9	Frame_Shift_Del	DEL	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.G138fs	ENST00000292090.3	37	c.413	CCDS11242.1	17																																																																																			TLCD1	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000160606		0.498	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLCD1	HGNC	protein_coding	OTTHUMT00000255973.1		0	31	0	C	NM_138463		27051859	-1	tier1		no_errors	ENST00000292090	ensembl	human	known	74_37	frame_shift_del	21.43	22	6	DEL	0.737	-	-	27051859	C	-	27051859	7	5	87	1	0	1	0	1	0	0	0	0	15984	507	18	0	334	0	TLCD1	17	27051859	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	23735	27051859	54143351	1598	24722											
DHRS13	147015	genome.wustl.edu	37	chr17	27228278	27228278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatatggttcacccgaagcaGcaggttaaacgcctcacggg	11	7	12	11	3	2	0	2	0	0	0	2	2	2	0	2	3	3	4	2	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27228278G>A	ENST00000378895.4	-	4	538	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	RP11-20B24.4_ENST00000579187.1_RNA|RP11-20B24.4_ENST00000580603.1_RNA|DHRS13_ENST00000394901.3_Silent_p.L88L|DHRS13_ENST00000426464.2_Silent_p.L57L|DHRS13_ENST00000581974.1_5'Flank	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	138						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			ACCCGAAGCAGCAGGTTAAAC	0.602																																																	0													75	74	75					17																	27228278		2203	4300	6503	SO:0001819	synonymous_variant	0			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	28326	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 5"					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.412C>T	17.37:g.27228278G>A			Q96BH7	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	p.L138	ENST00000378895.4	37	c.412	CCDS11246.2	17																																																																																			DHRS13	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase	ENSG00000167536		0.602	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS13	HGNC	protein_coding	OTTHUMT00000255952.1	-	0	30	0	G	NM_144683		27228278	-1	tier1	-	no_errors	ENST00000378895	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	A	A	27228278	G	A	27228278	2	1	87	1	0	0	0	0	0	0	0	1	4503	962	34	3		3	DHRS13	17	27228278	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	176419	27228278	53966932	1599	24723											
SSH2	85464	genome.wustl.edu	37	chr17	27958431	27958431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactcgatttctttagcacGctccttcaccacaccggggc	8	10	8	15	3	2	1	1	0	1	1	4	2	3	1	3	2	1	2	3	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:27958431G>A	ENST00000269033.3	-	15	3851	c.3700C>T	c.(3700-3702)Cgt>Tgt	p.R1234C	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R1261C	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1234					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTTTAGCACGCTCCTTCACC	0.512																																																	0													83	82	82					17																	27958431		2203	4300	6503	SO:0001583	missense	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30580	protein-coding gene	gene with protein product		606779	"slingshot homolog 2 (Drosophila)"			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3700C>T	17.37:g.27958431G>A	ENSP00000269033:p.Arg1234Cys		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.R1234C	ENST00000269033.3	37	c.3700	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105432	0.20632	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.47177	0.85;0.85	6.17	4.19	0.49359	.	2.192370	0.01383	N	0.013004	T	0.48502	0.1503	L	0.50333	1.59	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.09377	0.004;0.002	T	0.30794	-0.9966	10	0.87932	D	0	0.0278	9.1989	0.37246	0.0653:0.0:0.6726:0.2621	.	1261;1234	F5H527;Q76I76	.;SSH2_HUMAN	C	1234;1261	ENSP00000269033:R1234C;ENSP00000444743:R1261C	ENSP00000269033:R1234C	R	-	1	0	SSH2	24982557	1.000000	0.71417	0.477000	0.27303	0.337000	0.28794	3.303000	0.51858	0.937000	0.37394	0.655000	0.94253	CGT	SSH2	-	NULL	ENSG00000141298		0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	-	0	53	0	G	NM_033389		27958431	-1	tier1	-	no_errors	ENST00000269033	ensembl	human	known	74_37	missense	26.67	44	16	SNP	0.845	A	A	27958431	G	A	27958431	3	1	87	1	0	0	0	0	1	0	0	0	15232	1087	38	1	575	1	SSH2	17	27958431	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	730153	27958431	53236779	1600	24724											
ACCN1	40	genome.wustl.edu	37	chr17	31618963	31618963	+	Intron	DEL	C	C	-																															gcgcggctcagcgatggccgCcccctgcgggcgacccctgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:31618963delC	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Frame_Shift_Del_p.G57fs	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCGATGGCCGCCCCCTGCGGG	0.806																																																	0													5	6	6					17																	31618963		1945	3817	5762	SO:0001627	intron_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179878G>-	17.37:g.31618963delC			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Frame_Shift_Del	DEL	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R58fs	ENST00000359872.6	37	c.171	CCDS42296.1	17																																																																																			ASIC2	-	NULL	ENSG00000108684		0.806	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1		0	35	0	C	NM_183377, NM_001094		31618963	-1	tier1		no_errors	ENST00000225823	ensembl	human	known	74_37	frame_shift_del	9.38	29	3	DEL	0.990	-	-	31618963	C	-	31618963	6	5	87	0	1	1	0	1	0	0	0	0	128	726	26	0		0	ACCN1	17	31618963	Intron	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	3660532	31618963	49576247	1601	24725											
LIG3	3980	genome.wustl.edu	37	chr17	33326423	33326423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggccatgatgatgccacGcttgcccgcctgcagaatga	9	7	13	12	2	0	4	0	3	0	1	0	5	0	5	4	2	3	2	4	2	1	1	rs368207452		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:33326423G>A	ENST00000378526.4	+	15	2344	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	LIG3_ENST00000262327.5_Silent_p.T737T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	737					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ATGATGCCACGCTTGCCCGCC	0.582								Other BER factors					G|||	1	0.000199681	8e-04	0	5008	,	,		20676	0		0	False		,,,				2504	0																0								G	,	0,4406		0,0,2203	70	51	58		2211,2211	-12.3	0.1	17		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LIG3	NM_002311.4,NM_013975.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	737/950,737/1010	33326423	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"ligase II, DNA, ATP-dependent"	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.2211G>A	17.37:g.33326423G>A			Q16714|Q6NVK3	Silent	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.T737	ENST00000378526.4	37	c.2211	CCDS11284.2	17																																																																																			LIG3	-	pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.582	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3		0	31	0	G	NM_013975		33326423	1			no_errors	ENST00000378526	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.576	A	A	33326423	G	A	33326423	2	1	87	1	0	0	0	0	0	0	0	1	8811	1074	38	1		1	LIG3	17	33326423	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1707460	33326423	47868787	1602	24726											
NLE1	54475	genome.wustl.edu	37	chr17	33462280	33462280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctactcacttgcccgtcctgCcatcccacagcttgatggac	7	10	7	17	1	1	1	1	1	0	0	3	2	3	2	4	1	4	1	4	1	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:33462280C>A	ENST00000442241.4	-	10	1241	c.1202G>T	c.(1201-1203)gGc>gTc	p.G401V	NLE1_ENST00000360831.5_Missense_Mutation_p.G359V|NLE1_ENST00000593176.1_5'Flank|NLE1_ENST00000586869.1_Missense_Mutation_p.G109V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	401					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCCCGTCCTGCCATCCCACAG	0.557																																																	0													169	138	148					17																	33462280		2203	4300	6503	SO:0001583	missense	0				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.1202G>T	17.37:g.33462280C>A	ENSP00000413572:p.Gly401Val		O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B	p.G401V	ENST00000442241.4	37	c.1202	CCDS11291.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604129|4.604129	0.87157|0.87157	.|.	.|.	ENSG00000073536|ENSG00000073536	ENST00000436188|ENST00000442241;ENST00000360831;ENST00000537697	.|T	.|0.34275	.|1.37	5.11|5.11	5.11|5.11	0.69529|0.69529	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	.|0.050131	.|0.85682	.|D	.|0.000000	T|T	0.25232|0.25232	0.0613|0.0613	N|N	0.02334|0.02334	-0.595|-0.595	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52577	.|0.947;0.954	.|P;B	.|0.50490	.|0.642;0.255	T|T	0.32052|0.32052	-0.9921|-0.9921	5|10	.|0.40728	.|T	.|0.16	-34.3463|-34.3463	16.0884|16.0884	0.81073|0.81073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|377;401	.|B4E074;Q9NVX2	.|.;NLE1_HUMAN	S|V	181|401;109;377	.|ENSP00000413572:G401V	.|ENSP00000354075:G109V	A|G	-|-	1|2	0|0	NLE1|NLE1	30486393|30486393	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.999000|0.999000	0.98932|0.98932	7.122000|7.122000	0.77169|0.77169	2.637000|2.637000	0.89404|0.89404	0.650000|0.650000	0.86243|0.86243	GCA|GGC	NLE1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000073536		0.557	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLE1	HGNC	protein_coding	OTTHUMT00000256441.2	-	0	56	0	C	NM_018096		33462280	-1	tier1	-	no_errors	ENST00000442241	ensembl	human	known	74_37	missense	10.94	57	7	SNP	0.999	A	A	33462280	C	A	33462280	3	1	87	1	0	0	0	0	1	0	0	0	10499	739	26	3	271	3	NLE1	17	33462280	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	135857	33462280	47732930	1603	24727											
MRPL45	84311	genome.wustl.edu	37	chr17	36455359	36455359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctgagggtgatgcacGcatatcatctctttcaaagg	9	12	9	11	1	3	2	2	2	1	0	6	2	5	2	2	2	1	2	2	2	2	2	rs201673456	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:36455359G>A	ENST00000312513.5	+	3	448	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	96						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTGATGCACGCATATCATCT	0.383													G|||	6	0.00119808	0	0	5008	,	,		18612	0		0.002	False		,,,				2504	0.0041																0													93	88	90					17																	36455359		2203	4300	6503	SO:0001583	missense	0			BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"Mitochondrial ribosomal proteins / large subunits"	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.287G>A	17.37:g.36455359G>A	ENSP00000308901:p.Arg96His		A1L436|Q6ZMJ5	Missense_Mutation	SNP	pfam_Tim44-like_dom,smart_Tim44-like_dom	p.R96H	ENST00000312513.5	37	c.287	CCDS11326.1	17	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034064	0.35893	.	.	ENSG00000174100	ENST00000312513	T	0.32988	1.43	4.45	4.45	0.53987	.	0.053401	0.85682	D	0.000000	T	0.30135	0.0755	M	0.75264	2.295	0.51233	D	0.999916	P	0.44946	0.846	B	0.30251	0.113	T	0.44034	-0.9354	10	0.59425	D	0.04	-8.6564	15.0341	0.71731	0.0:0.0:1.0:0.0	.	96	Q9BRJ2	RM45_HUMAN	H	96	ENSP00000308901:R96H	ENSP00000308901:R96H	R	+	2	0	MRPL45	33708877	1.000000	0.71417	0.621000	0.29145	0.204000	0.24138	7.013000	0.76373	2.299000	0.77371	0.407000	0.27541	CGC	MRPL45	-	NULL	ENSG00000174100		0.383	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	MRPL45	HGNC	protein_coding	OTTHUMT00000256792.3	-	0	54	0	G	NM_032351		36455359	1	tier1	rs201673456	no_errors	ENST00000312513	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.912	A	A	36455359	G	A	36455359	3	1	87	1	0	0	0	0	1	0	0	0	9847	1087	38	1	227	1	MRPL45	17	36455359	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2993079	36455359	44739851	1604	24728											
GPR179	440435	genome.wustl.edu	37	chr17	36499361	36499361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgagaaaattggcggcCtgggcaagggtgcccgctgc	8	8	16	9	2	0	1	0	1	0	1	0	2	0	1	2	4	2	3	2	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:36499361C>A	ENST00000342292.4	-	1	332	c.312G>T	c.(310-312)caG>caT	p.Q104H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	104					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AATTGGCGGCCTGGGCAAGGG	0.617																																																	0													30	32	31					17																	36499361		2056	4183	6239	SO:0001583	missense	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.312G>T	17.37:g.36499361C>A	ENSP00000345060:p.Gln104His			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.Q104H	ENST00000342292.4	37	c.312	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161124	0.21538	.	.	ENSG00000188888	ENST00000342292	T	0.78816	-1.21	4.93	2.88	0.33553	.	0.154839	0.44097	D	0.000486	T	0.51210	0.1661	N	0.25890	0.77	0.33561	D	0.597401	P	0.39480	0.675	B	0.28553	0.091	T	0.56044	-0.8044	10	0.11182	T	0.66	-18.8475	3.4059	0.07340	0.3097:0.481:0.0:0.2093	.	104	Q6PRD1	GP179_HUMAN	H	104	ENSP00000345060:Q104H	ENSP00000345060:Q104H	Q	-	3	2	GPR179	33752887	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.593000	0.23999	1.360000	0.45960	0.655000	0.94253	CAG	GPR179	-	NULL	ENSG00000188888		0.617	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0	54	0	C			36499361	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	36499361	C	A	36499361	3	1	87	1	0	0	0	0	1	0	0	0	6700	680	24	3	6835	3	GPR179	17	36499361	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	44002	36499361	44695849	1605	24729											
ERBB2	2064	genome.wustl.edu	37	chr17	37881000	37881000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatacgtgatggctggtGtgggctccccatatgtctcc	7	11	12	11	1	1	1	0	1	1	0	3	1	2	1	3	3	2	3	3	3	3	2	rs121913471		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:37881000G>A	ENST00000269571.5	+	20	2488	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M	ERBB2_ENST00000541774.1_Missense_Mutation_p.V762M|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747M|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501M|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747M|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747M|ERBB2_ENST00000584450.1_Missense_Mutation_p.V777M			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91	90	90					17																	37881000		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"CD molecules"	3430	protein-coding gene	gene with protein product	"neuro/glioblastoma derived oncogene homolog"	164870	"v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>A	17.37:g.37881000G>A	ENSP00000269571:p.Val777Met		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V777M	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839321	0.51057	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.57725	0.2073	N	0.13235	0.315	0.80722	D	1	D;P;P	0.58268	0.982;0.902;0.805	P;B;B	0.52856	0.711;0.338;0.346	T	0.57027	-0.7881	9	0.27082	T	0.32	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	M	747;762;501;777;747	ENSP00000385185:V747M;ENSP00000446466:V762M;ENSP00000404047:V501M;ENSP00000269571:V777M;ENSP00000443562:V747M	ENSP00000269571:V777M	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0	72	0	G			37881000	1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	A	A	37881000	G	A	37881000	3	1	87	1	0	0	0	0	1	0	0	0	5222	1377	48	3	2407	3	ERBB2	17	37881000	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1381639	37881000	43314210	1606	24730											
GSDMA	284110	genome.wustl.edu	37	chr17	38133236	38133236	+	Frame_Shift_Del	DEL	C	C	-																															ggcccccaatatatgtgggaCccagacaccctccctcgcct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38133236delC	ENST00000301659.4	+	12	1381	c.1263delC	c.(1261-1263)gacfs	p.D421fs		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	421					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ATATGTGGGACCCAGACACCC	0.577																																																	0													96	101	100					17																	38133236		1953	4136	6089	SO:0001589	frameshift_variant	0			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"gasdermin", "gasdermin 1"	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1263delC	17.37:g.38133236delC	ENSP00000301659:p.Asp421fs		Q32MC5|Q86VE7|Q8N1M6	Frame_Shift_Del	DEL	pfam_Gasdermin	p.P422fs	ENST00000301659.4	37	c.1263	CCDS45669.1	17																																																																																			GSDMA	-	NULL	ENSG00000167914		0.577	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1		0	70	0	C	NM_178171		38133236	1	tier1		no_errors	ENST00000301659	ensembl	human	known	74_37	frame_shift_del	20.29	55	14	DEL	0.997	-	-	38133236	C	-	38133236	7	5	87	1	0	1	0	1	0	0	0	0	6843	506	18	0	1305	0	GSDMA	17	38133236	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	252236	38133236	43061974	1607	24731											
THRA	7067	genome.wustl.edu	37	chr17	38244561	38244561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatcatgtccctgcgggcgGctgtccgctacgaccctgag	6	8	13	14	4	1	2	1	1	0	1	3	3	3	2	3	2	2	2	3	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38244561G>A	ENST00000264637.4	+	8	1370	c.790G>A	c.(790-792)Gct>Act	p.A264T	THRA_ENST00000394121.4_Missense_Mutation_p.A264T|THRA_ENST00000584985.1_Missense_Mutation_p.A264T|THRA_ENST00000546243.1_Missense_Mutation_p.A264T|THRA_ENST00000450525.2_Missense_Mutation_p.A264T	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	264	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCTGCGGGCGGCTGTCCGCTA	0.637																																																	0													94	82	86					17																	38244561		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.790G>A	17.37:g.38244561G>A	ENSP00000264637:p.Ala264Thr		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A264T	ENST00000264637.4	37	c.790	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	g	34	5.366359	0.95900	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.986	D;D;P	0.71414	0.973;0.97;0.677	D	0.99391	1.0925	10	0.87932	D	0	.	17.0857	0.86611	0.0:0.0:1.0:0.0	.	264;264;264	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	T	264	ENSP00000377679:A264T;ENSP00000264637:A264T;ENSP00000395641:A264T;ENSP00000443972:A264T	ENSP00000264637:A264T	A	+	1	0	THRA	35498087	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	9.758000	0.98927	2.304000	0.77564	0.486000	0.48141	GCT	THRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000126351		0.637	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	-	0	51	0	G			38244561	1	tier1	-	no_errors	ENST00000264637	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	A	A	38244561	G	A	38244561	3	1	87	1	0	0	0	0	1	0	0	0	15920	1203	42	3	816	3	THRA	17	38244561	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	111325	38244561	42950649	1608	24732											
MSL1	339287	genome.wustl.edu	37	chr17	38282534	38282535	+	Frame_Shift_Del	DEL	AG	AG	-																															tttcagggctatgaaactgaAgagagagaggaaacagagct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38282534_38282535delAG	ENST00000398532.4	+	2	1182_1183	c.867_868delAG	c.(865-870)gaagagfs	p.EE289fs	MSL1_ENST00000577454.1_Frame_Shift_Del_p.EE289fs|MSL1_ENST00000579565.1_Frame_Shift_Del_p.EE26fs|MSL1_ENST00000578648.1_Frame_Shift_Del_p.EE289fs	NM_001012241.1	NP_001012241.1	Q68DK7	MSL1_HUMAN	male-specific lethal 1 homolog (Drosophila)	289					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						ATGAAACTGAAGAGAGAGAGGA	0.495																																																	0																																										SO:0001589	frameshift_variant	0				CCDS45670.1	17q21.1	2011-03-21			ENSG00000188895	ENSG00000188895			27905	protein-coding gene	gene with protein product		614801				16227571, 16543150	Standard	NM_001012241		Approved	hMSL1, MSL-1, DKFZp686P24239	uc002hua.4	Q68DK7		ENST00000398532.4:c.867_868delAG	17.37:g.38282542_38282543delAG	ENSP00000381543:p.Glu289fs		Q0VF46|Q69Z03	Frame_Shift_Del	DEL	NULL	p.E292fs	ENST00000398532.4	37	c.867_868		17																																																																																			MSL1	-	NULL	ENSG00000188895		0.495	MSL1-003	KNOWN	basic	protein_coding	MSL1	HGNC	protein_coding	OTTHUMT00000447409.2		0	53	0	AG	NM_001012241		38282535	1	tier1		no_errors	ENST00000398532	ensembl	human	known	74_37	frame_shift_del	34.48	38	20	DEL	1.000:1.000	-	-	38282535	AG	-	38282534	7	5	87	1	0	1	0	1	0	0	0	0	9915	69	3	0	80	0	MSL1	17	38282534	Frame_Shift_Del	DEL	AG	TCGA-L5-A8NM-01A-11D-A37C-09	37973	38282534	42912676	1609	24733											
CCR7	1236	genome.wustl.edu	37	chr17	38711212	38711212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaggtgacgtcgtaggCgatgttgagttgcttactga	7	13	15	6	3	0	3	0	3	0	0	1	4	0	3	0	2	2	6	0	2	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:38711212C>T	ENST00000246657.2	-	3	981	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	CCR7_ENST00000579344.1_Missense_Mutation_p.A301T	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	307					activation of Rho GTPase activity (GO:0032862)|cellular response to cytokine stimulus (GO:0071345)|chemokine (C-C motif) ligand 19 signaling pathway (GO:0038115)|chemokine (C-C motif) ligand 21 signaling pathway (GO:0038116)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-12 secretion (GO:0072610)|lymphocyte migration into lymph node (GO:0097022)|mature dendritic cell differentiation (GO:0097029)|myeloid dendritic cell chemotaxis (GO:0002408)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative thymic T cell selection (GO:0045060)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation (GO:2000526)|positive regulation of humoral immune response (GO:0002922)|positive regulation of hypersensitivity (GO:0002885)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immunological synapse formation (GO:2000522)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of T cell costimulation (GO:2000525)|positive regulation of T cell receptor signaling pathway (GO:0050862)|regulation of dendritic cell dendrite assembly (GO:2000547)|regulation of interferon-gamma production (GO:0032649)|regulation of interleukin-1 beta secretion (GO:0050706)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to nitric oxide (GO:0071731)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-C motif chemokine 19 receptor activity (GO:0038117)|C-C motif chemokine 21 receptor activity (GO:0038121)|chemokine (C-C motif) ligand 19 binding (GO:0035757)|chemokine (C-C motif) ligand 21 binding (GO:0035758)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACGTCGTAGGCGATGTTGAGT	0.567																																																	0													243	189	208					17																	38711212		2203	4300	6503	SO:0001583	missense	0				CCDS11369.1	17q12-q21.2	2012-08-08			ENSG00000126353	ENSG00000126353		"GPCR / Class A : Chemokine receptors : C-C motif", "CD molecules"	1608	protein-coding gene	gene with protein product		600242		CMKBR7, EBI1		8383238	Standard	NM_001838		Approved	BLR2, CDw197, CD197	uc002huw.3	P32248	OTTHUMG00000133375	ENST00000246657.2:c.919G>A	17.37:g.38711212C>T	ENSP00000246657:p.Ala307Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1	p.A307T	ENST00000246657.2	37	c.919	CCDS11369.1	17	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005909	0.93287	.	.	ENSG00000126353	ENST00000246657	T	0.52754	0.65	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.055479	0.64402	D	0.000001	T	0.63271	0.2497	M	0.77313	2.365	0.80722	D	1	D	0.55605	0.972	P	0.52189	0.692	T	0.61540	-0.7042	10	0.33940	T	0.23	.	19.8881	0.96917	0.0:1.0:0.0:0.0	.	307	P32248	CCR7_HUMAN	T	307	ENSP00000246657:A307T	ENSP00000246657:A307T	A	-	1	0	CCR7	35964738	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.818000	0.86416	2.708000	0.92522	0.555000	0.69702	GCC	CCR7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_Chemokine_rcpt	ENSG00000126353		0.567	CCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR7	HGNC	protein_coding	OTTHUMT00000257222.1	-	0	41	0	C			38711212	-1	tier1	-	no_errors	ENST00000246657	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	38711212	C	T	38711212	3	4	87	1	0	0	0	0	1	0	0	0	2953	768	27	1	221	1	CCR7	17	38711212	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	428678	38711212	42483998	1610	24734											
KRT23	25984	genome.wustl.edu	37	chr17	39092612	39092612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtaggaggccaggcGgtcgttgagattctgcatgg	7	9	16	9	2	1	1	0	1	1	1	3	3	2	2	2	6	1	3	2	6	1	3	rs376489003		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39092612G>A	ENST00000209718.3	-	2	668	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000582283.1_5'Flank	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	82	Coil 1A.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAGGCCAGGCGGTCGTTGAGA	0.617																																																	0								G	CYS/ARG	0,4406		0,0,2203	102	103	102		244	5.6	1	17		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT23	NM_015515.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	82/423	39092612	1,13005	2203	4300	6503	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"-", "Intermediate filaments type I, keratins (acidic)"	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.244C>T	17.37:g.39092612G>A	ENSP00000209718:p.Arg82Cys		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R82C	ENST00000209718.3	37	c.244	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285621	0.80803	0.0	1.16E-4	ENSG00000108244	ENST00000209718	D	0.94138	-3.36	5.57	5.57	0.84162	Filament (1);	0.000000	0.56097	D	0.000031	D	0.96682	0.8917	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96883	0.9647	10	0.87932	D	0	.	19.5528	0.95328	0.0:0.0:1.0:0.0	.	82	Q9C075	K1C23_HUMAN	C	82	ENSP00000209718:R82C	ENSP00000209718:R82C	R	-	1	0	KRT23	36346138	1.000000	0.71417	0.990000	0.47175	0.347000	0.29111	9.842000	0.99487	2.630000	0.89119	0.557000	0.71058	CGC	KRT23	-	pfam_IF	ENSG00000108244		0.617	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0	141	0	G			39092612	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.15	92	5	SNP	1.000	A	A	39092612	G	A	39092612	3	1	87	1	0	0	0	0	1	0	0	0	8487	1116	39	1	1056	1	KRT23	17	39092612	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	381400	39092612	42102598	1611	24735											
KRT40	125115	genome.wustl.edu	37	chr17	39135256	39135256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctcggtttctgccacGgtgcattccagagattctgt	5	13	12	11	2	2	1	0	0	2	1	4	2	3	1	3	3	2	2	3	3	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39135256G>A	ENST00000398486.2	-	8	1156	c.996C>T	c.(994-996)acC>acT	p.T332T	KRT40_ENST00000377755.4_Silent_p.T332T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	332	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTTCTGCCACGGTGCATTCCA	0.552																																																	0													73	81	78					17																	39135256		2190	4281	6471	SO:0001819	synonymous_variant	0			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"-", "Intermediate filaments type I, keratins (acidic)"	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.996C>T	17.37:g.39135256G>A			Q6IFU5	Silent	SNP	pfam_IF,prints_Keratin_I	p.T332	ENST00000398486.2	37	c.996	CCDS42320.1	17																																																																																			KRT40	-	pfam_IF	ENSG00000204889		0.552	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT40	HGNC	protein_coding	OTTHUMT00000257701.3	-	0	34	0	G	NM_182497		39135256	-1	tier1	-	no_errors	ENST00000377755	ensembl	human	known	74_37	silent	22.58	24	7	SNP	0.000	A	A	39135256	G	A	39135256	2	1	87	1	0	0	0	0	0	0	0	1	8505	1103	39	1		1	KRT40	17	39135256	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	42644	39135256	42059954	1612	24736											
KRT19	3880	genome.wustl.edu	37	chr17	39684217	39684217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgcgcaccttgtccaGgtaggaggccaggcggtcgt	6	6	17	12	4	0	0	0	0	0	0	2	1	1	1	3	6	0	2	3	6	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39684217G>T	ENST00000361566.3	-	1	343	c.283C>A	c.(283-285)Ctg>Atg	p.L95M		NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	95	Coil 1A.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				ACCTTGTCCAGGTAGGAGGCC	0.692																																																	0													56	63	61					17																	39684217		2202	4299	6501	SO:0001583	missense	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.283C>A	17.37:g.39684217G>T	ENSP00000355124:p.Leu95Met		B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L95M	ENST00000361566.3	37	c.283	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813313	0.90707	.	.	ENSG00000171345	ENST00000361566;ENST00000455635	D;D	0.91180	-2.8;-2.8	4.83	3.84	0.44239	Filament (1);	0.000000	0.36815	N	0.002397	D	0.94272	0.8160	M	0.79805	2.47	0.51233	D	0.999918	D	0.89917	1.0	D	0.97110	1.0	D	0.93678	0.6996	10	0.72032	D	0.01	.	8.4225	0.32710	0.083:0.0:0.7633:0.1536	.	95	P08727	K1C19_HUMAN	M	95	ENSP00000355124:L95M;ENSP00000408759:L95M	ENSP00000355124:L95M	L	-	1	2	KRT19	36937743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.513000	0.60476	1.128000	0.42052	0.462000	0.41574	CTG	KRT19	-	pfam_IF	ENSG00000171345		0.692	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	-	0	236	0	G	NM_002276		39684217	-1	tier1	-	no_errors	ENST00000361566	ensembl	human	known	74_37	missense	30.53	157	69	SNP	1.000	T	T	39684217	G	T	39684217	3	4	87	1	0	0	0	0	1	0	0	0	8483	991	35	3	943	3	KRT19	17	39684217	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	548961	39684217	41510993	1613	24737											
JUP	3728	genome.wustl.edu	37	chr17	39925671	39925671	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagggaccctcacagaccGggtcctcgtcgttgagcagt	8	7	13	13	3	1	2	1	1	0	1	4	3	2	3	3	2	2	3	3	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:39925671G>A	ENST00000393931.3	-	3	585	c.467C>T	c.(466-468)cCg>cTg	p.P156L	JUP_ENST00000393930.1_Splice_Site_p.P156L|JUP_ENST00000310706.5_Splice_Site_p.P156L|JUP_ENST00000540235.1_Splice_Site_p.P156L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	156	Interaction with DSC1 and DSG1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTCACAGACCGGGTCCTCGTC	0.627																																					Colon(16;42 520 6044 17852 28530)												0													17	18	17					17																	39925671		2200	4299	6499	SO:0001630	splice_region_variant	0			AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"Armadillo repeat containing"	6207	protein-coding gene	gene with protein product		173325	"catenin (cadherin-associated protein), gamma 80kDa"	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.468+1C>T	17.37:g.39925671G>A			Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.P156L	ENST00000393931.3	37	c.467	CCDS11407.1	17	.	.	.	.	.	.	.	.	.	.	g	15.21	2.764700	0.49574	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457	T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.110473	0.64402	D	0.000006	T	0.14184	0.0343	N	0.25647	0.755	0.80722	D	1	P;B	0.42941	0.794;0.038	B;B	0.27796	0.083;0.005	T	0.03945	-1.0990	10	0.46703	T	0.11	-63.5869	18.4331	0.90633	0.0:0.0:1.0:0.0	.	156;156	B4DE59;P14923	.;PLAK_HUMAN	L	156	ENSP00000441751:P156L;ENSP00000377507:P156L;ENSP00000311113:P156L;ENSP00000377508:P156L;ENSP00000389886:P156L;ENSP00000394146:P156L;ENSP00000411449:P156L;ENSP00000401034:P156L	ENSP00000311113:P156L	P	-	2	0	JUP	37179197	1.000000	0.71417	1.000000	0.80357	0.687000	0.40016	4.078000	0.57606	2.593000	0.87608	0.556000	0.70494	CCG	JUP	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000173801		0.627	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257406.1	-	0	68	0	G		Missense_Mutation	39925671	-1	tier1	-	no_errors	ENST00000310706	ensembl	human	known	74_37	missense	21.05	60	16	SNP	1.000	A	A	39925671	G	A	39925671	5	1	87	1	0	0	0	0	0	0	1	0	7999	1130	39	1	1818	1	JUP	17	39925671	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	241454	39925671	41269539	1614	24738											
KAT2A	2648	genome.wustl.edu	37	chr17	40265752	40265752	+	Frame_Shift_Del	DEL	G	G	-																															agcggcagtactcgctgtccGgggggttgtactcgcgacag																								rs201300257		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40265752delG	ENST00000225916.5	-	18	2482	c.2429delC	c.(2428-2430)ccgfs	p.P810fs	DHX58_ENST00000251642.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	810	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTCGCTGTCCGGGGGGTTGTA	0.607																																																	0													34	35	35					17																	40265752		2203	4300	6503	SO:0001589	frameshift_variant	0			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"Chromatin-modifying enzymes / K-acetyltransferases"	4201	protein-coding gene	gene with protein product		602301	"GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.2429delC	17.37:g.40265752delG	ENSP00000225916:p.Pro810fs		Q8N1A2|Q9UCW1	Frame_Shift_Del	DEL	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.P810fs	ENST00000225916.5	37	c.2429	CCDS11417.1	17																																																																																			KAT2A	-	pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000108773		0.607	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1		0	85	0	G	NM_021078		40265752	-1	tier1		no_errors	ENST00000225916	ensembl	human	known	74_37	frame_shift_del	17.57	61	13	DEL	1.000	-	-	40265752	G	-	40265752	7	5	87	1	0	1	0	1	0	0	0	0	8008	1116	39	0	88	0	KAT2A	17	40265752	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	340081	40265752	40929458	1615	24739											
STAT5A	6776	genome.wustl.edu	37	chr17	40453399	40453399	+	Frame_Shift_Del	DEL	C	C	-																															agctgaacgtgcacatgaatCccccccaggtgaaggccacc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40453399delC	ENST00000345506.4	+	10	1738	c.1096delC	c.(1096-1098)cccfs	p.P367fs	STAT5A_ENST00000588868.1_Frame_Shift_Del_p.P367fs|STAT5A_ENST00000546010.2_Frame_Shift_Del_p.P337fs|STAT5A_ENST00000452307.2_Frame_Shift_Del_p.P367fs|STAT5A_ENST00000590949.1_Frame_Shift_Del_p.P367fs	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	367					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCACATGAATCCCCCCCAGGT	0.567																																																	0													148	126	133					17																	40453399		2203	4300	6503	SO:0001589	frameshift_variant	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"SH2 domain containing"	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1096delC	17.37:g.40453399delC	ENSP00000341208:p.Pro367fs		Q1KLZ6	Frame_Shift_Del	DEL	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.Q368fs	ENST00000345506.4	37	c.1096	CCDS11424.1	17																																																																																			STAT5A	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000126561		0.567	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1		0	90	0	C	NM_003152		40453399	1	tier1		no_errors	ENST00000345506	ensembl	human	known	74_37	frame_shift_del	14.29	72	12	DEL	1.000	-	-	40453399	C	-	40453399	7	5	87	1	0	1	0	1	0	0	0	0	15315	855	30	0	1126	0	STAT5A	17	40453399	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	187647	40453399	40741811	1616	24740											
PLEKHH3	79990	genome.wustl.edu	37	chr17	40823464	40823464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccgttggctcaacgCggaaatctccgccagcgagg	7	7	12	15	5	2	0	1	0	1	0	4	2	3	1	4	3	3	2	4	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40823464C>T	ENST00000591022.1	-	8	1576	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A397T|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.A397T	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	397	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		TGGCTCAACGCGGAAATCTCC	0.677																																																	0													31	28	29					17																	40823464		2202	4299	6501	SO:0001583	missense	0			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"Pleckstrin homology (PH) domain containing"	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1189G>A	17.37:g.40823464C>T	ENSP00000468678:p.Ala397Thr		C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.A397T	ENST00000591022.1	37	c.1189	CCDS11434.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200087	0.79015	.	.	ENSG00000068137	ENST00000456950;ENST00000293349;ENST00000412503	D;D	0.94687	-3.49;-3.49	4.7	4.7	0.59300	MyTH4 domain (2);	0.000000	0.42964	D	0.000634	D	0.89677	0.6784	L	0.37897	1.145	0.30482	N	0.772274	P;P	0.49307	0.904;0.922	B;B	0.36845	0.15;0.234	D	0.89410	0.3702	10	0.59425	D	0.04	-24.7099	13.8755	0.63651	0.0:0.8463:0.1537:0.0	.	397;397	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	T	59;397;397	ENSP00000293349:A397T;ENSP00000411885:A397T	ENSP00000293349:A397T	A	-	1	0	PLEKHH3	38076990	0.998000	0.40836	0.950000	0.38849	0.581000	0.36288	4.745000	0.62125	2.166000	0.68216	0.561000	0.74099	GCG	PLEKHH3	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000068137		0.677	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	-	0	90	0	C	NM_024927		40823464	-1	tier1	-	no_errors	ENST00000591022	ensembl	human	known	74_37	missense	17.39	57	12	SNP	0.655	T	T	40823464	C	T	40823464	3	4	87	1	0	0	0	0	1	0	0	0	12117	768	27	1	1216	1	PLEKHH3	17	40823464	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	370065	40823464	40371746	1617	24741											
CNTNAP1	8506	genome.wustl.edu	37	chr17	40845373	40845373	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagggccatgcgtctgaaCggagtgactctgaacctgga	9	9	14	9	2	2	4	0	4	2	0	2	6	2	6	2	3	3	0	2	3	2	1	rs143795143	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40845373C>T	ENST00000264638.4	+	18	3028	c.2811C>T	c.(2809-2811)aaC>aaT	p.N937N	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	937	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCGTCTGAACGGAGTGACTC	0.602																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	116	112	113		2811	-7.3	0.7	17	dbSNP_134	113	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	CNTNAP1	NM_003632.2		0,10,6493	TT,TC,CC		0.1047,0.0227,0.0769		937/1385	40845373	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"neurexin 4"	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2811C>T	17.37:g.40845373C>T				Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.N937	ENST00000264638.4	37	c.2811	CCDS11436.1	17																																																																																			CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.602	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	-	0	25	0	C	NM_003632		40845373	1	tier1	rs143795143	no_errors	ENST00000264638	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.266	T	T	40845373	C	T	40845373	2	4	87	1	0	0	0	0	0	0	0	1	3653	535	19	1		1	CNTNAP1	17	40845373	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	21909	40845373	40349837	1618	24742											
BECN1	8678	genome.wustl.edu	37	chr17	40970681	40970681	+	Frame_Shift_Del	DEL	A	A	-																															gtctggcccgacatgatgtcAaaaaggtccccagtgacctg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:40970681delA	ENST00000361523.4	-	6	501	c.369delT	c.(367-369)tttfs	p.F123fs	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Frame_Shift_Del_p.F123fs	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	123					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		ACATGATGTCAAAAAGGTCCC	0.542																																																	0													79	71	74					17																	40970681		2203	4300	6503	SO:0001589	frameshift_variant	0			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.369delT	17.37:g.40970681delA	ENSP00000355231:p.Phe123fs		B2R6N7|O75595|Q9UNA8	Frame_Shift_Del	DEL	pfam_Beclin_fam,superfamily_Translin	p.F123fs	ENST00000361523.4	37	c.369	CCDS11441.1	17																																																																																			BECN1	-	pfam_Beclin_fam	ENSG00000126581		0.542	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	HGNC	protein_coding	OTTHUMT00000452405.1		0	46	0	A	NM_003766		40970681	-1	tier1		no_errors	ENST00000361523	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	1.000	-	-	40970681	A	-	40970681	7	5	87	1	0	1	0	1	0	0	0	0	1397	127	5	0	1011	0	BECN1	17	40970681	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	125308	40970681	40224529	1619	24743											
NBR1	4077	genome.wustl.edu	37	chr17	41362035	41362035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaattacaatatcctgcAggttgtgacagaacttcttc	13	12	6	10	0	1	2	0	1	1	1	3	2	2	2	1	1	3	2	1	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:41362035A>G	ENST00000422280.1	+	21	3302	c.2843A>G	c.(2842-2844)cAg>cGg	p.Q948R	TMEM106A_ENST00000541594.1_5'Flank|TMEM106A_ENST00000536052.1_5'Flank|NBR1_ENST00000389312.4_Missense_Mutation_p.Q948R|NBR1_ENST00000341165.6_Missense_Mutation_p.Q948R|TMEM106A_ENST00000331615.3_5'Flank|NBR1_ENST00000590996.1_Missense_Mutation_p.Q948R|TMEM106A_ENST00000588659.1_5'Flank	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	948	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AATATCCTGCAGGTTGTGACA	0.463																																																	0													73	64	67					17																	41362035		1568	3582	5150	SO:0001583	missense	0			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.2843A>G	17.37:g.41362035A>G	ENSP00000411250:p.Gln948Arg		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ	p.Q948R	ENST00000422280.1	37	c.2843	CCDS45694.1	17	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261552	0.59431	.	.	ENSG00000188554	ENST00000422280;ENST00000537493;ENST00000341165;ENST00000389312	T;T;T	0.40756	1.02;1.02;1.02	5.86	3.53	0.40419	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	.	.	.	.	T	0.35537	0.0935	L	0.60455	1.87	0.35273	D	0.780591	B	0.32717	0.381	B	0.26969	0.075	T	0.49624	-0.8920	9	0.66056	D	0.02	-4.3817	8.4491	0.32860	0.8004:0.1316:0.0681:0.0	.	948	Q14596	NBR1_HUMAN	R	948;199;948;948	ENSP00000411250:Q948R;ENSP00000343479:Q948R;ENSP00000373963:Q948R	ENSP00000343479:Q948R	Q	+	2	0	NBR1	38717561	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.460000	0.66691	1.040000	0.40099	0.533000	0.62120	CAG	NBR1	-	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000188554		0.463	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBR1	HGNC	protein_coding	OTTHUMT00000453461.1	-	0	79	0	A	NM_005899		41362035	1	tier1	-	no_errors	ENST00000341165	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	G	G	41362035	A	G	41362035	3	3	87	1	0	0	0	0	1	0	0	0	10239	188	7	4	2921	4	NBR1	17	41362035	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	391354	41362035	39833175	1620	24744											
ATXN7L3	56970	genome.wustl.edu	37	chr17	42275066	42275066	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcccaaacaagaatcctcGaccaggtccgcgtatatctc	13	8	6	14	3	1	1	0	0	1	1	6	2	4	1	4	1	1	1	4	1	6	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:42275066G>A	ENST00000454077.2	-	2	83	c.84C>T	c.(82-84)gtC>gtT	p.V28V	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Silent_p.V28V|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGAATCCTCGACCAGGTCCG	0.542																																																	0													125	124	124					17																	42275066		1991	4170	6161	SO:0001819	synonymous_variant	0			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.84C>T	17.37:g.42275066G>A				Silent	SNP	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.V28	ENST00000454077.2	37	c.84	CCDS45697.1	17																																																																																			ATXN7L3	-	NULL	ENSG00000087152		0.542	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457724.1	-	0	48	0	G			42275066	-1	tier1	-	no_errors	ENST00000454077	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.991	A	A	42275066	G	A	42275066	2	1	87	1	0	0	0	0	0	0	0	1	1219	1045	37	1		1	ATXN7L3	17	42275066	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	913031	42275066	38920144	1621	24745											
FZD2	2535	genome.wustl.edu	37	chr17	42635889	42635889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttccgctacccagagcGgcctatcatttttctgtcgg	5	12	10	14	4	2	1	1	0	1	1	4	1	3	1	3	2	2	2	3	2	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:42635889G>A	ENST00000315323.3	+	1	965	c.833G>A	c.(832-834)cGg>cAg	p.R278Q		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	278					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TACCCAGAGCGGCCTATCATT	0.607																																																	0													62	62	62					17																	42635889		2203	4300	6503	SO:0001583	missense	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.833G>A	17.37:g.42635889G>A	ENSP00000323901:p.Arg278Gln		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.R278Q	ENST00000315323.3	37	c.833	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	22.4	4.280482	0.80692	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.84370	-1.84	4.61	3.64	0.41730	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93795	0.8016	H	0.94503	3.545	0.53688	D	0.999971	D	0.89917	1.0	D	0.87578	0.998	D	0.94319	0.7552	10	0.87932	D	0	.	11.9527	0.52964	0.0858:0.0:0.9141:0.0	.	278	Q14332	FZD2_HUMAN	Q	354;278	ENSP00000323901:R278Q	ENSP00000323901:R278Q	R	+	2	0	FZD2	39991415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.856000	0.99531	0.908000	0.36671	0.561000	0.74099	CGG	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000180340		0.607	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1		0	36	0	G	NM_001466		42635889	1			no_errors	ENST00000315323	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	A	A	42635889	G	A	42635889	3	1	87	1	0	0	0	0	1	0	0	0	6154	1116	39	1	835	1	FZD2	17	42635889	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	360823	42635889	38559321	1622	24746											
STH	246744	genome.wustl.edu	37	chr17	44076968	44076968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaactgtccctcccAccctgcagctgccctgcctc	5	7	9	20	0	0	1	0	0	0	1	3	1	2	1	6	1	5	2	6	1	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:44076968A>G	ENST00000537309.1	+	1	353	c.323A>G	c.(322-324)cAc>cGc	p.H108R	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000571987.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	108						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.H108P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTCCCTCCCACCCTGCAGCT	0.587																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	0			AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"microtubule-associated protein tau (MAPT) intronic transcript"	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.323A>G	17.37:g.44076968A>G	ENSP00000443168:p.His108Arg		A1L3X7	Missense_Mutation	SNP	NULL	p.H108R	ENST00000537309.1	37	c.323	CCDS54136.1	17	.	.	.	.	.	.	.	.	.	.	A	5.901	0.350259	0.11182	.	.	ENSG00000256762	ENST00000537309	T	0.52754	0.65	2.83	-2.36	0.06663	.	.	.	.	.	T	0.23289	0.0563	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.31016	0.123	T	0.20306	-1.0279	9	0.87932	D	0	.	3.8598	0.08991	0.3547:0.3966:0.2487:0.0	.	108	Q8IWL8	STH_HUMAN	R	108	ENSP00000443168:H108R	ENSP00000443168:H108R	H	+	2	0	STH	41432805	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.152000	0.10159	-0.615000	0.05679	-0.415000	0.06103	CAC	STH	-	NULL	ENSG00000256762		0.587	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STH	HGNC	protein_coding	OTTHUMT00000400444.1	-	0	29	0	A			44076968	1	tier1	-	no_errors	ENST00000537309	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.000	G	G	44076968	A	G	44076968	3	3	87	1	0	0	0	0	1	0	0	0	15328	159	6	4	325	4	STH	17	44076968	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1441079	44076968	37118242	1623	24747											
C17orf57	124989	genome.wustl.edu	37	chr17	45473323	45473323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatttctagctgcatTggaactagtgacagttgatg	11	13	12	5	0	1	3	0	3	1	0	1	5	1	5	0	2	3	3	0	2	4	5	rs555824646		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:45473323T>C	ENST00000331493.2	+	17	2336	c.1925T>C	c.(1924-1926)tTg>tCg	p.L642S	EFCAB13_ENST00000517484.1_Missense_Mutation_p.L546S	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	642	EF-hand 3.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTAGCTGCATTGGAACTAGTG	0.338													t|||	1	0.000199681	0	0.0014	5008	,	,		15816	0		0	False		,,,				2504	0																0													96	104	101					17																	45473323		2203	4300	6503	SO:0001583	missense	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1925T>C	17.37:g.45473323T>C	ENSP00000332111:p.Leu642Ser		G3V128|Q49AG9	Missense_Mutation	SNP	NULL	p.L642S	ENST00000331493.2	37	c.1925	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	t	10.51	1.370201	0.24771	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000523842	T;T;T	0.52983	0.64;0.64;0.64	3.81	3.81	0.43845	EF-hand-like domain (1);	0.160399	0.29417	N	0.012220	T	0.59155	0.2173	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.71656	0.974;0.965	T	0.49082	-0.8976	10	0.87932	D	0	-1.258	9.256	0.37584	0.0:0.0:0.0:1.0	.	642;546	Q8IY85;G3V128	CQ057_HUMAN;.	S	642;546;168	ENSP00000332111:L642S;ENSP00000430048:L546S;ENSP00000429566:L168S	ENSP00000332111:L642S	L	+	2	0	C17orf57	42828322	0.026000	0.19158	0.009000	0.14445	0.005000	0.04900	2.567000	0.45956	1.937000	0.56155	0.478000	0.44815	TTG	EFCAB13	-	NULL	ENSG00000178852		0.338	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	-	0	45	0	T	NM_152347		45473323	1	tier1	-	no_errors	ENST00000331493	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.012	C	C	45473323	T	C	45473323	3	2	87	1	0	0	0	0	1	0	0	0	1871	1821	63	4	1979	4	C17orf57	17	45473323	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1396355	45473323	35721887	1624	24748											
SCRN2	90507	genome.wustl.edu	37	chr17	45915667	45915667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagccccagggctgccTggtgtccacggtagagggta	7	7	14	13	1	1	1	1	0	0	1	2	1	2	1	5	4	2	3	5	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:45915667T>C	ENST00000290216.9	-	7	1213	c.1088A>G	c.(1087-1089)cAg>cGg	p.Q363R	SCRN2_ENST00000407215.3_Missense_Mutation_p.Q363R|SCRN2_ENST00000584123.1_Missense_Mutation_p.Q371R	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	363						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CAGGGCTGCCTGGTGTCCACG	0.612																																																	0													61	62	62					17																	45915667		2203	4300	6503	SO:0001583	missense	0			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1088A>G	17.37:g.45915667T>C	ENSP00000290216:p.Gln363Arg		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.Q363R	ENST00000290216.9	37	c.1088	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118392	0.77323	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.09445	3.15;2.98	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	M	0.65975	2.015	0.80722	D	1	D;D;D	0.69078	0.993;0.997;0.993	D;D;D	0.75484	0.968;0.986;0.968	T	0.01172	-1.1429	10	0.34782	T	0.22	-27.2468	14.8687	0.70437	0.0:0.0:0.0:1.0	.	363;363;363	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	R	363	ENSP00000290216:Q363R;ENSP00000383935:Q363R	ENSP00000290216:Q363R	Q	-	2	0	SCRN2	43270666	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	7.185000	0.77714	2.160000	0.67779	0.533000	0.62120	CAG	SCRN2	-	NULL	ENSG00000141295		0.612	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	-	0	64	0	T	NM_138355		45915667	-1	tier1	-	no_errors	ENST00000290216	ensembl	human	known	74_37	missense	11.76	45	6	SNP	1.000	C	C	45915667	T	C	45915667	3	2	87	1	0	0	0	0	1	0	0	0	13984	1580	55	4	215	4	SCRN2	17	45915667	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	442344	45915667	35279543	1625	24749											
B4GALNT2	124872	genome.wustl.edu	37	chr17	47230172	47230172	+	Frame_Shift_Del	DEL	C	C	-																															cttcctgcagagaagggctgCcccgcccactgcccctgctg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47230172delC	ENST00000300404.2	+	4	603	c.544delC	c.(544-546)cccfs	p.P182fs	B4GALNT2_ENST00000504681.1_Frame_Shift_Del_p.P96fs|B4GALNT2_ENST00000393354.2_Frame_Shift_Del_p.P122fs	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	182					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			AGAAGGGCTGCCCCGCCCACT	0.622																																					GBM(124;244 1635 8663 18097 33175)												0													38	28	32					17																	47230172		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	24136	protein-coding gene	gene with protein product		111730	"UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.544delC	17.37:g.47230172delC	ENSP00000300404:p.Pro182fs		B4DZE4|Q14CP1|Q86Y40	Frame_Shift_Del	DEL	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.R183fs	ENST00000300404.2	37	c.544	CCDS11544.1	17																																																																																			B4GALNT2	-	pirsf_GM2_synthase	ENSG00000167080		0.622	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1		0	50	0	C	NM_153446		47230172	1	tier1		no_errors	ENST00000300404	ensembl	human	known	74_37	frame_shift_del	33.33	28	14	DEL	1.000	-	-	47230172	C	-	47230172	7	5	87	1	0	1	0	1	0	0	0	0	1268	739	26	0	576	0	B4GALNT2	17	47230172	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1314505	47230172	33965038	1626	24750											
ABI3	51225	genome.wustl.edu	37	chr17	47293972	47293972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcgtggcctaccaggtggGcaacctggccgggcacactc	7	5	14	15	2	0	0	0	0	0	0	1	0	0	0	4	5	3	2	4	5	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47293972G>A	ENST00000225941.1	+	2	695	c.197G>A	c.(196-198)gGc>gAc	p.G66D	ABI3_ENST00000419580.2_Missense_Mutation_p.G66D	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	66					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TACCAGGTGGGCAACCTGGCC	0.667										HNSCC(55;0.14)																																							0													30	27	28					17																	47293972		2203	4300	6503	SO:0001583	missense	0			AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.197G>A	17.37:g.47293972G>A	ENSP00000225941:p.Gly66Asp		C9IZN8|Q9H0P6	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.G66D	ENST00000225941.1	37	c.197	CCDS11546.1	17	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144479	0.77888	.	.	ENSG00000108798	ENST00000225941;ENST00000419580	D;D	0.92099	-2.97;-2.97	5.35	3.34	0.38264	.	0.065025	0.56097	D	0.000021	D	0.86920	0.6049	N	0.22421	0.69	0.41815	D	0.98999	P;P	0.42296	0.775;0.666	B;B	0.43916	0.436;0.252	D	0.87140	0.2202	10	0.72032	D	0.01	-27.7142	10.3382	0.43862	0.1572:0.0:0.8428:0.0	.	66;66	Q9P2A4-2;Q9P2A4	.;ABI3_HUMAN	D	66	ENSP00000225941:G66D;ENSP00000406651:G66D	ENSP00000225941:G66D	G	+	2	0	ABI3	44648971	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.117000	0.57877	1.247000	0.43917	0.563000	0.77884	GGC	ABI3	-	NULL	ENSG00000108798		0.667	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	HGNC	protein_coding	OTTHUMT00000364475.1	-	0	34	0	G	NM_016428		47293972	1	tier1	-	no_errors	ENST00000225941	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	A	A	47293972	G	A	47293972	3	1	87	1	0	0	0	0	1	0	0	0	90	1203	42	3	203	3	ABI3	17	47293972	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	63800	47293972	33901238	1627	24751											
FAM117A	81558	genome.wustl.edu	37	chr17	47788822	47788822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaagaggggcttcatcAggttgacggggcagaaggct	9	6	19	7	2	2	3	2	1	0	2	2	4	2	4	0	8	0	4	0	8	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47788822A>G	ENST00000240364.2	-	8	1236	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	FAM117A_ENST00000513602.1_Missense_Mutation_p.L114P|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	386										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGGCTTCATCAGGTTGACGGG	0.617																																																	0													41	47	45					17																	47788822		2203	4300	6503	SO:0001583	missense	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.1157T>C	17.37:g.47788822A>G	ENSP00000240364:p.Leu386Pro		B7Z7Q3	Missense_Mutation	SNP	NULL	p.L386P	ENST00000240364.2	37	c.1157	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	A	21.2	4.109305	0.77096	.	.	ENSG00000121104	ENST00000240364	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000006	T	0.76219	0.3957	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78570	-0.2153	9	0.87932	D	0	-15.5991	15.4487	0.75257	1.0:0.0:0.0:0.0	.	386	Q9C073	F117A_HUMAN	P	386	.	ENSP00000240364:L386P	L	-	2	0	FAM117A	45143821	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	8.958000	0.93099	2.313000	0.78055	0.455000	0.32223	CTG	FAM117A	-	NULL	ENSG00000121104		0.617	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0	84	0	A	NM_030802		47788822	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	missense	21.21	52	14	SNP	1.000	G	G	47788822	A	G	47788822	3	3	87	1	0	0	0	0	1	0	0	0	5428	188	7	4	208	4	FAM117A	17	47788822	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	494850	47788822	33406388	1628	24752											
FAM117A	81558	genome.wustl.edu	37	chr17	47797720	47797720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcactgcgtggtcccctaGgagtggtgaacctcgctcct	5	9	12	15	3	0	1	0	1	0	0	3	2	2	2	5	3	2	2	5	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:47797720G>T	ENST00000240364.2	-	4	620	c.541C>A	c.(541-543)Cta>Ata	p.L181I	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	181										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGTCCCCTAGGAGTGGTGAA	0.587																																																	0													98	87	91					17																	47797720		2203	4300	6503	SO:0001583	missense	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"C/EBP induced protein"					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.541C>A	17.37:g.47797720G>T	ENSP00000240364:p.Leu181Ile		B7Z7Q3	Missense_Mutation	SNP	NULL	p.L181I	ENST00000240364.2	37	c.541	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364215	0.24684	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	5.43	4.46	0.54185	.	0.615849	0.16420	N	0.215187	T	0.33177	0.0854	N	0.08118	0	0.80722	D	1	B	0.30033	0.266	B	0.32211	0.142	T	0.13845	-1.0494	9	0.26408	T	0.33	-38.2806	12.3029	0.54884	0.0787:0.0:0.9213:0.0	.	181	Q9C073	F117A_HUMAN	I	181;71;149	.	ENSP00000240364:L181I	L	-	1	2	FAM117A	45152719	0.329000	0.24696	0.290000	0.24890	0.009000	0.06853	3.218000	0.51192	1.534000	0.49203	-0.152000	0.13540	CTA	FAM117A	-	NULL	ENSG00000121104		0.587	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0	40	0	G	NM_030802		47797720	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.988	T	T	47797720	G	T	47797720	3	4	87	1	0	0	0	0	1	0	0	0	5428	991	35	3	840	3	FAM117A	17	47797720	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	8898	47797720	33397490	1629	24753											
DLX3	1747	genome.wustl.edu	37	chr17	48069105	48069105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggtgtcccagagggCgggtgatggtggtgagttgc	7	8	21	5	1	0	4	0	2	0	2	1	5	1	5	1	6	1	1	1	6	1	1	rs376543839		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:48069105C>T	ENST00000434704.2	-	3	865	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	DLX3_ENST00000512495.2_Missense_Mutation_p.A94T	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	214					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TCCCAGAGGGCGGGTGATGGT	0.627													C|||	1	0.000199681	8e-04	0	5008	,	,		14008	0		0	False		,,,				2504	0																0								C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	123	126	125		640	4.5	0.9	17		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	DLX3	NM_005220.2	58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	214/288	48069105	3,13003	2203	4300	6503	SO:0001583	missense	0				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.640G>A	17.37:g.48069105C>T	ENSP00000389870:p.Ala214Thr		B3KQL6	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.A214T	ENST00000434704.2	37	c.640	CCDS11556.1	17	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275092	0.59649	4.54E-4	1.16E-4	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.91577	-2.85;-2.87	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	L	0.31926	0.97	0.58432	D	0.999999	B	0.24092	0.097	B	0.18871	0.023	T	0.82559	-0.0397	10	0.41790	T	0.15	-22.4613	14.7961	0.69878	0.0:1.0:0.0:0.0	.	214	O60479	DLX3_HUMAN	T	214;94	ENSP00000389870:A214T;ENSP00000449976:A94T	ENSP00000389870:A214T	A	-	1	0	DLX3	45424104	0.998000	0.40836	0.946000	0.38457	0.972000	0.66771	3.957000	0.56730	2.357000	0.79964	0.556000	0.70494	GCC	DLX3	-	NULL	ENSG00000064195		0.627	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	-	0	63	0	C			48069105	-1	tier1	-	no_errors	ENST00000434704	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.998	T	T	48069105	C	T	48069105	3	4	87	1	0	0	0	0	1	0	0	0	4586	768	27	1	227	1	DLX3	17	48069105	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	271385	48069105	33126105	1630	24754											
XYLT2	64132	genome.wustl.edu	37	chr17	48432899	48432899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattcctatccaagaacCgggacaagaatttcctcaag	13	9	8	11	1	1	2	1	0	0	2	4	3	4	3	4	2	1	1	4	2	6	3	rs369645772		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:48432899C>T	ENST00000017003.2	+	5	1094	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	XYLT2_ENST00000507602.1_Missense_Mutation_p.R349W	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	349					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATCCAAGAACCGGGACAAGAA	0.587																																																	0													73	67	69					17																	48432899		2203	4300	6503	SO:0001583	missense	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"protein xylosyltransferase 2"	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1045C>T	17.37:g.48432899C>T	ENSP00000017003:p.Arg349Trp		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.R349W	ENST00000017003.2	37	c.1045	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919748	0.73098	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.12147	2.71;2.71	4.47	4.47	0.54385	.	0.135814	0.48767	D	0.000171	T	0.45994	0.1370	M	0.93854	3.465	0.58432	D	0.999991	D	0.76494	0.999	D	0.77004	0.989	T	0.58323	-0.7656	10	0.87932	D	0	-25.0122	12.4892	0.55891	0.167:0.833:0.0:0.0	.	349	Q9H1B5	XYLT2_HUMAN	W	349	ENSP00000017003:R349W;ENSP00000426501:R349W	ENSP00000017003:R349W	R	+	1	2	XYLT2	45787898	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.704000	0.37857	2.347000	0.79759	0.456000	0.33151	CGG	XYLT2	-	pfam_Glyco_trans_14	ENSG00000015532		0.587	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	-	0	23	0	C	NM_022167		48432899	1	tier1	-	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	T	T	48432899	C	T	48432899	3	4	87	1	0	0	0	0	1	0	0	0	17513	643	23	1	1063	1	XYLT2	17	48432899	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	363794	48432899	32762311	1631	24755											
NOG	9241	genome.wustl.edu	37	chr17	54671870	54671870	+	Frame_Shift_Del	DEL	G	G	-																															gcgggggcgggggtgcagctGggggcgcggaggacctggcg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:54671870delG	ENST00000332822.4	+	1	811	c.286delG	c.(286-288)gggfs	p.G97fs		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	97					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					gggTGCAGCTGGGGGCGCGGA	0.741																																																	0													7	10	9					17																	54671870		2134	4145	6279	SO:0001589	frameshift_variant	0			U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"synostoses (multiple) syndrome 1", "symphalangism 1 (proximal)"	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.286delG	17.37:g.54671870delG	ENSP00000328181:p.Gly97fs			Frame_Shift_Del	DEL	pfam_Noggin,pirsf_Noggin	p.G97fs	ENST00000332822.4	37	c.286	CCDS11589.1	17																																																																																			NOG	-	pfam_Noggin,pirsf_Noggin	ENSG00000183691		0.741	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOG	HGNC	protein_coding	OTTHUMT00000323857.1		0	19	0	G	NM_005450		54671870	1	tier1		no_errors	ENST00000332822	ensembl	human	known	74_37	frame_shift_del	42.86	12	9	DEL	0.630	-	-	54671870	G	-	54671870	7	5	87	1	0	1	0	1	0	0	0	0	10558	1348	47	0	288	0	NOG	17	54671870	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	6238971	54671870	26523340	1632	24756											
VEZF1	7716	genome.wustl.edu	37	chr17	56052100	56052100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgggctggttatgttaaCtgcacttgaaacatttactg	10	15	9	7	0	0	1	0	1	0	0	0	1	0	1	0	2	4	4	0	2	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:56052100C>A	ENST00000581208.1	-	6	1340	c.1300G>T	c.(1300-1302)Gtt>Ttt	p.V434F	VEZF1_ENST00000584396.1_Missense_Mutation_p.V425F	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	434	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTATGTTAACTGCACTTGAA	0.453																																																	0													260	241	247					17																	56052100		2203	4300	6503	SO:0001583	missense	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1300G>T	17.37:g.56052100C>A	ENSP00000462337:p.Val434Phe			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V434F	ENST00000581208.1	37	c.1300	CCDS32687.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207418	0.79240	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.71290	0.3322	L	0.38175	1.15	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	T	0.64664	-0.6354	9	0.25106	T	0.35	-6.586	20.1346	0.98019	0.0:1.0:0.0:0.0	.	434	Q14119	VEZF1_HUMAN	F	434	.	ENSP00000258963:V434F	V	-	1	0	VEZF1	53407099	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.205000	0.77881	2.765000	0.95021	0.655000	0.94253	GTT	VEZF1	-	NULL	ENSG00000136451		0.453	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1		0	36	0	C			56052100	-1			no_errors	ENST00000581208	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	56052100	C	A	56052100	3	1	87	1	0	0	0	0	1	0	0	0	17204	565	20	3	269	3	VEZF1	17	56052100	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1380230	56052100	25143110	1633	24757											
DHX40	79665	genome.wustl.edu	37	chr17	57663593	57663593	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtgtgatgctattgacAggtaaaaaaaaaaaaaaaaa	23	7	7	4	0	0	2	0	2	0	0	0	2	0	2	1	1	1	2	1	1	10	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:57663593A>G	ENST00000251241.4	+	11	1570	c.1423A>G	c.(1423-1425)Agg>Ggg	p.R475G	DHX40_ENST00000425628.3_Splice_Site_p.R398G|DHX40_ENST00000451169.2_Splice_Site_p.R427G	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	475							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGCTATTGACAGGTAAAAAAA	0.294																																																	0													26	24	25					17																	57663593		2199	4291	6490	SO:0001630	splice_region_variant	0			AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"DEAH-boxes"	18018	protein-coding gene	gene with protein product		607570	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1424+1A>G	17.37:g.57663593A>G			B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R475G	ENST00000251241.4	37	c.1423	CCDS11617.1	17	.	.	.	.	.	.	.	.	.	.	-	22.6	4.304921	0.81247	.	.	ENSG00000108406	ENST00000251241;ENST00000538926;ENST00000425628;ENST00000451169	T;T	0.02579	4.24;4.24	4.8	4.8	0.61643	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.08714	0.0216	L	0.43923	1.385	0.80722	D	1	D;P	0.58268	0.982;0.897	P;P	0.60345	0.873;0.498	T	0.10683	-1.0619	10	0.54805	T	0.06	.	14.7072	0.69200	1.0:0.0:0.0:0.0	.	398;475	F5H625;Q8IX18	.;DHX40_HUMAN	G	475;398;475;427	ENSP00000251241:R475G;ENSP00000396039:R427G	ENSP00000251241:R475G	R	+	1	2	DHX40	55018375	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.344000	0.90055	1.948000	0.56530	0.450000	0.29827	AGG	DHX40	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000108406		0.294	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX40	HGNC	protein_coding	OTTHUMT00000446095.1	-	0	36	0	A	NM_024612	Missense_Mutation	57663593	1	tier1	-	no_errors	ENST00000251241	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	G	G	57663593	A	G	57663593	5	3	87	1	0	0	0	0	0	0	1	0	4526	202	7	4	1465	4	DHX40	17	57663593	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1611493	57663593	23531617	1634	24758											
RNFT1	51136	genome.wustl.edu	37	chr17	58040251	58040251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggaagacttttttgcaGccacttgaagagatagcgga	13	11	11	6	1	0	3	0	1	0	2	0	6	0	5	1	2	3	1	1	2	4	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:58040251G>A	ENST00000305783.8	-	2	506	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_Silent_p.L114L|RP11-178C3.1_ENST00000591035.1_Intron	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	151						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			CTTTTTTGCAGCCACTTGAAG	0.408																																																	0													66	66	66					17																	58040251		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"RING-type (C3HC4) zinc fingers"	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.451C>T	17.37:g.58040251G>A			Q8N7D0|Q96IZ9|Q9Y686	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L151	ENST00000305783.8	37	c.451	CCDS11622.2	17																																																																																			RNFT1	-	NULL	ENSG00000189050		0.408	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNFT1	HGNC	protein_coding	OTTHUMT00000308958.1	-	0	32	0	G	NM_016125		58040251	-1	tier1	-	no_errors	ENST00000305783	ensembl	human	known	74_37	silent	61.36	17	27	SNP	1.000	A	A	58040251	G	A	58040251	2	1	87	1	0	0	0	0	0	0	0	1	13546	962	34	3		3	RNFT1	17	58040251	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	376658	58040251	23154959	1635	24759											
TANC2	26115	genome.wustl.edu	37	chr17	61482566	61482566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtggcccagccaaacCgccgaggagcagtgccacta	10	3	13	15	3	0	0	0	0	0	0	0	2	0	1	5	3	4	2	5	3	2	1	rs545352608		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:61482566C>T	ENST00000424789.2	+	18	3197	c.3193C>T	c.(3193-3195)Cgc>Tgc	p.R1065C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065C|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1065					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCAAACCGCCGAGGAGC	0.612													C|||	1	0.000199681	0	0	5008	,	,		17034	0		0	False		,,,				2504	0.001																0													20	23	22					17																	61482566		2007	4157	6164	SO:0001583	missense	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3193C>T	17.37:g.61482566C>T	ENSP00000387593:p.Arg1065Cys		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1065C	ENST00000424789.2	37	c.3193	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793020	0.70452	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.16196	2.36;2.36	5.33	5.33	0.75918	Ankyrin repeat-containing domain (3);	0.050353	0.85682	D	0.000000	T	0.38026	0.1025	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.975;0.993	T	0.09596	-1.0667	10	0.87932	D	0	.	12.6849	0.56942	0.2885:0.7115:0.0:0.0	.	1065;1065	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	C	1065	ENSP00000374171:R1065C;ENSP00000387593:R1065C	ENSP00000374171:R1065C	R	+	1	0	TANC2	58836298	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.418000	0.44662	2.507000	0.84556	0.655000	0.94253	CGC	TANC2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170921		0.612	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1		0	19	0	C			61482566	1			no_errors	ENST00000424789	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	61482566	C	T	61482566	3	4	87	1	0	0	0	0	1	0	0	0	15592	652	23	1	3263	1	TANC2	17	61482566	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3442315	61482566	19712644	1636	24760											
SMARCD2	6603	genome.wustl.edu	37	chr17	61911039	61911039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtcgtccacctccacatCgatgtcgtaacaggctgtct	7	11	10	13	3	1	0	0	0	1	0	6	1	3	0	3	2	1	2	3	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:61911039C>T	ENST00000448276.2	-	10	1490	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	SMARCD2_ENST00000323347.10_Missense_Mutation_p.D361N|SMARCD2_ENST00000225742.9_Missense_Mutation_p.D334N	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	409					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						ACCTCCACATCGATGTCGTAA	0.567																																																	0													95	97	96					17																	61911039		2134	4239	6373	SO:0001583	missense	0			U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60B", "Swp73-like protein", "chromatin remodeling complex BAF60B subunit", "SWI/SNF complex 60 kDa subunit B"	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.1225G>A	17.37:g.61911039C>T	ENSP00000392617:p.Asp409Asn		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.D409N	ENST00000448276.2	37	c.1225	CCDS45756.1	17	.	.	.	.	.	.	.	.	.	.	.	12.47	1.948820	0.34377	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.47528	0.84;0.86	5.44	5.44	0.79542	.	0.043026	0.85682	D	0.000000	T	0.63070	0.2480	M	0.84433	2.695	0.80722	D	1	D;P;P	0.60160	0.987;0.95;0.95	P;P;P	0.50162	0.633;0.599;0.599	T	0.68876	-0.5293	10	0.54805	T	0.06	-0.8301	16.8112	0.85720	0.0:1.0:0.0:0.0	.	361;372;409	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	N	409;351;372;361	ENSP00000392617:D409N;ENSP00000318451:D361N	ENSP00000225742:D351N	D	-	1	0	SMARCD2	59264771	1.000000	0.71417	0.870000	0.34147	0.086000	0.17979	7.651000	0.83577	2.837000	0.97791	0.655000	0.94253	GAT	SMARCD2	-	NULL	ENSG00000108604		0.567	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD2	HGNC	protein_coding	OTTHUMT00000444544.1	-	0	47	0	C	NM_001098426		61911039	-1	tier1	-	no_errors	ENST00000448276	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	T	T	61911039	C	T	61911039	3	4	87	1	0	0	0	0	1	0	0	0	14823	884	31	1	386	1	SMARCD2	17	61911039	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	428473	61911039	19284171	1637	24761											
GH2	2689	genome.wustl.edu	37	chr17	61958422	61958422	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcaccctgttggaaggTgttggaatagactctgagaa	10	13	12	6	0	2	2	1	1	1	2	2	5	2	4	1	3	0	3	1	3	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:61958422T>C	ENST00000423893.2	-	3	319	c.258A>G	c.(256-258)acA>acG	p.T86T	GH2_ENST00000332800.7_Silent_p.T86T|GH2_ENST00000456543.2_Silent_p.T86T|GH2_ENST00000449787.2_Silent_p.T71T			P01242	SOM2_HUMAN	growth hormone 2	86					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGTTGGAAGGTGTTGGAATAG	0.547																																																	0													176	185	182					17																	61958422		2203	4300	6503	SO:0001819	synonymous_variant	0			J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"Endogenous ligands"	4262	protein-coding gene	gene with protein product	"placental-specific growth hormone", "placenta-specific growth hormone"	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.258A>G	17.37:g.61958422T>C			B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.T86	ENST00000423893.2	37	c.258	CCDS11647.1	17																																																																																			GH2	-	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	ENSG00000136487		0.547	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH2	HGNC	protein_coding	OTTHUMT00000417665.1	-	0	60	0	T	NM_002059		61958422	-1	tier1	-	no_errors	ENST00000332800	ensembl	human	known	74_37	silent	8.57	63	6	SNP	0.181	C	C	61958422	T	C	61958422	2	2	87	1	0	0	0	0	0	0	0	1	6394	1683	59	4		4	GH2	17	61958422	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	47383	61958422	19236788	1638	24762											
SCN4A	6329	genome.wustl.edu	37	chr17	62018159	62018159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactccttgacacctgggCgcacagtctgccctggggga	7	7	14	13	1	1	2	0	1	1	1	2	4	2	3	3	3	1	1	3	3	0	1	rs201555161	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:62018159C>T	ENST00000435607.1	-	24	5559	c.5483G>A	c.(5482-5484)cGc>cAc	p.R1828H	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1828H	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1828					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACACCTGGGCGCACAGTCTG	0.672													C|||	2	0.000399361	0.0015	0	5008	,	,		17827	0		0	False		,,,				2504	0																0													37	46	43					17																	62018159		2048	4189	6237	SO:0001583	missense	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5483G>A	17.37:g.62018159C>T	ENSP00000396320:p.Arg1828His		Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.R1828H	ENST00000435607.1	37	c.5483	CCDS45761.1	17	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	8.938	0.965073	0.18583	.	.	ENSG00000007314	ENST00000435607	D	0.96554	-4.05	4.32	4.32	0.51571	.	1.836130	0.02649	N	0.106191	D	0.92107	0.7498	N	0.08118	0	0.29871	N	0.82685	B	0.12630	0.006	B	0.04013	0.001	T	0.78463	-0.2194	10	0.30078	T	0.28	.	14.4789	0.67567	0.0:1.0:0.0:0.0	.	1828	P35499	SCN4A_HUMAN	H	1828	ENSP00000396320:R1828H	ENSP00000396320:R1828H	R	-	2	0	SCN4A	59371891	0.971000	0.33674	0.995000	0.50966	0.021000	0.10359	1.417000	0.34770	2.399000	0.81585	0.561000	0.74099	CGC	SCN4A	-	NULL	ENSG00000007314		0.672	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding			0	43	0	C	NM_000334		62018159	-1			no_errors	ENST00000435607	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.951	T	T	62018159	C	T	62018159	3	4	87	1	0	0	0	0	1	0	0	0	13965	768	27	1	31	1	SCN4A	17	62018159	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	59737	62018159	19177051	1639	24763											
SCN4A	6329	genome.wustl.edu	37	chr17	62045456	62045456	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatggctgttccacgtgtcGttggcataccatgagtcatt	7	13	11	10	2	1	1	1	1	0	0	3	1	2	1	2	2	1	5	2	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:62045456G>A	ENST00000435607.1	-	6	1039	c.963C>T	c.(961-963)aaC>aaT	p.N321N	SCN4A_ENST00000578147.1_Silent_p.N321N	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	321					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCACGTGTCGTTGGCATACC	0.527																																																	0													337	329	332					17																	62045456		2165	4264	6429	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.963C>T	17.37:g.62045456G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.N321	ENST00000435607.1	37	c.963	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom	ENSG00000007314		0.527	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0	59	0	G	NM_000334		62045456	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	60.34	23	35	SNP	0.820	A	A	62045456	G	A	62045456	2	1	87	1	0	0	0	0	0	0	0	1	13965	1136	40	1		1	SCN4A	17	62045456	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	27297	62045456	19149754	1640	24764											
GNA13	10672	genome.wustl.edu	37	chr17	63052564	63052564	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcccagcagcaggatctTcaccagccgcttcacatagg	9	6	10	16	3	3	0	2	0	1	0	3	1	3	1	3	2	3	3	3	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:63052564T>A	ENST00000439174.2	-	1	393	c.148A>T	c.(148-150)Aag>Tag	p.K50*	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	50					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGCAGGATCTTCACCAGCCGC	0.632																																																	0													111	107	109					17																	63052564		2203	4300	6503	SO:0001587	stop_gained	0			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.148A>T	17.37:g.63052564T>A	ENSP00000400717:p.Lys50*		B2R977|B7Z7R0|F5H1G8|Q8TD70	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.K50*	ENST00000439174.2	37	c.148	CCDS11661.1	17	.	.	.	.	.	.	.	.	.	.	T	36	5.792518	0.96945	.	.	ENSG00000120063	ENST00000439174;ENST00000239138	.	.	.	3.91	3.91	0.45181	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3792	0.55297	0.0:0.0:0.0:1.0	.	.	.	.	X	50	.	ENSP00000239138:K50X	K	-	1	0	GNA13	60483026	1.000000	0.71417	0.853000	0.33588	0.006000	0.05464	5.566000	0.67372	1.391000	0.46566	0.379000	0.24179	AAG	GNA13	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000120063		0.632	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	-	0	101	0	T	NM_006572		63052564	-1	tier1	-	no_errors	ENST00000439174	ensembl	human	known	74_37	nonsense	17.05	72	15	SNP	1.000	A	A	63052564	T	A	63052564	4	1	87	1	0	0	0	0	0	1	0	0	6527	1792	62	5	1001	5	GNA13	17	63052564	Nonsense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1007108	63052564	18142646	1641	24765											
AXIN2	8313	genome.wustl.edu	37	chr17	63531800	63531800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgtctgaacagtggcCgaatgattcctgtccctctg	6	11	10	14	2	2	2	0	2	2	0	5	3	5	2	4	1	1	1	4	1	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:63531800C>T	ENST00000375702.5	-	7	2094	c.1986G>A	c.(1984-1986)tcG>tcA	p.S662S	AXIN2_ENST00000307078.5_Silent_p.S727S			Q9Y2T1	AXIN2_HUMAN	axin 2	727					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GAACAGTGGCCGAATGATTCC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0													100	77	85					17																	63531800		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"conductin", "axil"	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1986G>A	17.37:g.63531800C>T			Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S727	ENST00000375702.5	37	c.2181		17																																																																																			AXIN2	-	NULL	ENSG00000168646		0.537	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	-	0	30	0	C	NM_004655		63531800	-1	tier1	-	no_errors	ENST00000307078	ensembl	human	known	74_37	silent	32.26	21	10	SNP	0.000	T	T	63531800	C	T	63531800	2	4	87	1	0	0	0	0	0	0	0	1	1238	639	23	1		1	AXIN2	17	63531800	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	479236	63531800	17663410	1642	24766											
WIPI1	55062	genome.wustl.edu	37	chr17	66425048	66425048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtgtccactggatgacGcaactagcagccgtggcaac	12	6	12	11	2	0	1	0	1	0	0	1	2	1	2	2	3	4	3	2	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:66425048G>A	ENST00000262139.5	-	10	994	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.A250V|RP11-120M18.2_ENST00000592030.1_RNA	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	332					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGGATGACGCAACTAGCAG	0.458																																																	0													93	75	81					17																	66425048		2203	4300	6503	SO:0001583	missense	0				CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"WD repeat domain containing"	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.995C>T	17.37:g.66425048G>A	ENSP00000262139:p.Ala332Val		Q8IXM5|Q9NWF8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.A332V	ENST00000262139.5	37	c.995	CCDS11677.1	17	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690742	0.48097	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.54279	0.58;2.17	5.33	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.217883	0.48286	D	0.000186	T	0.36880	0.0983	L	0.31157	0.91	0.23180	N	0.998168	B	0.26147	0.143	B	0.27608	0.081	T	0.16928	-1.0386	10	0.12430	T	0.62	-10.6268	11.958	0.52993	0.1781:0.0:0.8219:0.0	.	332	Q5MNZ9	WIPI1_HUMAN	V	332;250	ENSP00000262139:A332V;ENSP00000437345:A250V	ENSP00000262139:A332V	A	-	2	0	WIPI1	63936643	1.000000	0.71417	0.008000	0.14137	0.037000	0.13140	5.917000	0.69989	1.139000	0.42245	0.557000	0.71058	GCG	WIPI1	-	superfamily_WD40_repeat_dom	ENSG00000070540		0.458	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPI1	HGNC	protein_coding	OTTHUMT00000448739.1	-	0	25	0	G	NM_017983		66425048	-1	tier1	-	no_errors	ENST00000262139	ensembl	human	known	74_37	missense	64.29	10	18	SNP	0.050	A	A	66425048	G	A	66425048	3	1	87	1	0	0	0	0	1	0	0	0	17419	1087	38	1	361	1	WIPI1	17	66425048	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2893248	66425048	14770162	1643	24767											
ABCA10	10349	genome.wustl.edu	37	chr17	67170425	67170425	+	Frame_Shift_Del	DEL	A	A	-																															catgtatatatacttacaatAaaaaagccaaaagaccaaaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:67170425delA	ENST00000269081.4	-	26	4068	c.3159delT	c.(3157-3159)tttfs	p.F1053fs	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1053					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TACTTACAATAAAAAAGCCAA	0.289																																																	0													58	59	59					17																	67170425		2202	4299	6501	SO:0001589	frameshift_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3159delT	17.37:g.67170425delA	ENSP00000269081:p.Phe1053fs		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F1053fs	ENST00000269081.4	37	c.3159	CCDS11684.1	17																																																																																			ABCA10	-	NULL	ENSG00000154263		0.289	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4		0	64	0	A	NM_080282		67170425	-1	tier1		no_errors	ENST00000269081	ensembl	human	known	74_37	frame_shift_del	51.47	33	35	DEL	0.047	-	-	67170425	A	-	67170425	7	5	87	1	0	1	0	1	0	0	0	0	29	359	13	0	1532	0	ABCA10	17	67170425	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	745377	67170425	14024785	1644	24768											
SDK2	54549	genome.wustl.edu	37	chr17	71344794	71344794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctctctgcagggaTgaggtcgttgtatttggtga	5	14	15	7	1	1	2	0	2	1	0	3	3	1	3	0	3	3	6	0	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:71344794T>C	ENST00000392650.3	-	44	6109	c.6109A>G	c.(6109-6111)Atc>Gtc	p.I2037V	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.I2018V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2037					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCTGCAGGGATGAGGTCGTTG	0.647																																																	0													76	66	69					17																	71344794		2203	4299	6502	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6109A>G	17.37:g.71344794T>C	ENSP00000376421:p.Ile2037Val		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.I2037V	ENST00000392650.3	37	c.6109	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	T	5.943	0.357914	0.11239	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.58060	0.36;0.39;1.66	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.25606	0.0623	N	0.03194	-0.395	0.48571	D	0.999676	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.18871	-1.0323	10	0.05436	T	0.98	.	13.3621	0.60663	0.0:0.0:0.0:1.0	.	2037;2018	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	V	1661;2037;2018;1194;2037;378	ENSP00000376421:I2037V;ENSP00000373378:I2018V;ENSP00000407098:I1194V	ENSP00000324967:I2037V	I	-	1	0	SDK2	68856389	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.903000	0.63272	1.789000	0.52484	0.460000	0.39030	ATC	SDK2	-	NULL	ENSG00000069188		0.647	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	-	0	45	0	T	NM_019064		71344794	-1	tier1	-	no_errors	ENST00000392650	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	C	C	71344794	T	C	71344794	3	2	87	1	0	0	0	0	1	0	0	0	14014	1464	51	4	417	4	SDK2	17	71344794	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	4174369	71344794	9850416	1645	24769											
SLC9A3R1	9368	genome.wustl.edu	37	chr17	72758236	72758236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcgacaagtccaagccagGccagttcatccggtcagtgg	10	6	12	13	2	2	0	2	0	0	0	4	1	4	0	4	3	2	1	4	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:72758236G>C	ENST00000262613.5	+	2	722	c.527G>C	c.(526-528)gGc>gCc	p.G176A	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.G20A	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	176	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						TCCAAGCCAGGCCAGTTCATC	0.627																																																	0													80	77	78					17																	72758236		2203	4300	6503	SO:0001583	missense	0			AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1", "solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1", "solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.527G>C	17.37:g.72758236G>C	ENSP00000262613:p.Gly176Ala		B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.G176A	ENST00000262613.5	37	c.527	CCDS11705.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.090737	0.94149	.	.	ENSG00000109062	ENST00000262613;ENST00000413388	T	0.58940	0.3	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.85299	2.745	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.82862	-0.0247	10	0.66056	D	0.02	-18.4203	18.8824	0.92362	0.0:0.0:1.0:0.0	.	176	O14745	NHRF1_HUMAN	A	176;126	ENSP00000262613:G176A	ENSP00000262613:G176A	G	+	2	0	SLC9A3R1	70269831	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.786000	0.99046	2.450000	0.82876	0.561000	0.74099	GGC	SLC9A3R1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	ENSG00000109062		0.627	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R1	HGNC	protein_coding	OTTHUMT00000443671.1	-	0	55	0	G			72758236	1	tier1	-	no_errors	ENST00000262613	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	C	C	72758236	G	C	72758236	3	2	87	1	0	0	0	0	1	0	0	0	14759	1203	42	5	533	5	SLC9A3R1	17	72758236	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1413442	72758236	8436974	1646	24770											
GRIN2C	2905	genome.wustl.edu	37	chr17	72850835	72850835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtttggacatgcacctTgggggtgaggaccacagcag	10	8	15	8	0	0	2	0	2	0	0	0	4	0	4	2	4	2	3	2	4	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:72850835T>C	ENST00000293190.5	-	2	543	c.397A>G	c.(397-399)Aag>Gag	p.K133E	GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Missense_Mutation_p.K133E	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	133					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACATGCACCTTGGGGGTGAGG	0.622																																																	0													72	68	69					17																	72850835		2203	4300	6503	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.397A>G	17.37:g.72850835T>C	ENSP00000293190:p.Lys133Glu		B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K133E	ENST00000293190.5	37	c.397	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	T	12.59	1.983055	0.34942	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	D	0.85629	-2.01	4.63	4.63	0.57726	Extracellular ligand-binding receptor (1);	0.055351	0.64402	D	0.000001	D	0.91429	0.7295	M	0.73598	2.24	0.46927	D	0.999254	D;D;D	0.71674	0.998;0.974;0.974	D;D;P	0.80764	0.994;0.91;0.876	D	0.92464	0.5980	10	0.72032	D	0.01	.	14.2166	0.65797	0.0:0.0:0.0:1.0	.	133;167;133	Q6PCC5;Q8IW23;Q14957	.;.;NMDE3_HUMAN	E	133;167	ENSP00000293190:K133E	ENSP00000293190:K133E	K	-	1	0	GRIN2C	70362430	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	7.793000	0.85851	1.947000	0.56498	0.528000	0.53228	AAG	GRIN2C	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000161509		0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	-	0	60	0	T			72850835	-1	tier1	-	no_errors	ENST00000293190	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	C	C	72850835	T	C	72850835	3	2	87	1	0	0	0	0	1	0	0	0	6808	1821	63	4	3352	4	GRIN2C	17	72850835	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	92599	72850835	8344375	1647	24771											
OTOP3	347741	genome.wustl.edu	37	chr17	72945397	72945397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaacgggctagaaaaGgatttctacggctaccagat	13	10	11	7	2	1	3	0	1	1	3	1	5	1	4	1	3	3	2	1	3	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:72945397G>T	ENST00000328801.4	+	7	1677	c.1677G>T	c.(1675-1677)aaG>aaT	p.K559N		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	559						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCTAGAAAAGGATTTCTACG	0.562																																																	0													90	85	87					17																	72945397		2203	4300	6503	SO:0001583	missense	0			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1677G>T	17.37:g.72945397G>T	ENSP00000328090:p.Lys559Asn			Missense_Mutation	SNP	pfam_Otopetrin	p.K559N	ENST00000328801.4	37	c.1677	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206486	0.39003	.	.	ENSG00000182938	ENST00000328801	T	0.22134	1.97	4.28	3.18	0.36537	.	0.000000	0.64402	D	0.000002	T	0.18130	0.0435	L	0.28274	0.84	0.09310	N	1	P	0.45283	0.855	P	0.49387	0.609	T	0.07731	-1.0757	10	0.20519	T	0.43	-23.7339	8.8821	0.35380	0.2136:0.0:0.7864:0.0	.	559	Q7RTS5	OTOP3_HUMAN	N	559	ENSP00000328090:K559N	ENSP00000328090:K559N	K	+	3	2	OTOP3	70456992	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.228000	0.32588	1.946000	0.56461	0.313000	0.20887	AAG	OTOP3	-	pfam_Otopetrin	ENSG00000182938		0.562	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	-	0	88	0	G	NM_178233		72945397	1	tier1	-	no_errors	ENST00000328801	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.025	T	T	72945397	G	T	72945397	3	4	87	1	0	0	0	0	1	0	0	0	11346	991	35	3	1703	3	OTOP3	17	72945397	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	94562	72945397	8249813	1648	24772											
FBF1	85302	genome.wustl.edu	37	chr17	73910971	73910971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgccgccgctcctcccCgcacttgagcatgacagact	7	6	10	18	4	0	3	0	2	0	1	2	3	2	3	5	1	1	3	5	1	0	1	rs200319918	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:73910971C>T	ENST00000586717.1	-	24	2902	c.2629G>A	c.(2629-2631)Ggg>Agg	p.G877R	FBF1_ENST00000389570.4_Missense_Mutation_p.G877R|FBF1_ENST00000319129.5_Missense_Mutation_p.G876R|RP11-552F3.12_ENST00000587556.1_5'Flank			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	877					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGCTCCTCCCCGCACTTGAGC	0.672																																																	0													23	28	26					17																	73910971		2097	4207	6304	SO:0001583	missense	0			AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"albatross"					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.2629G>A	17.37:g.73910971C>T	ENSP00000465132:p.Gly877Arg		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	superfamily_HRDC-like	p.G877R	ENST00000586717.1	37	c.2629		17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570824	0.86542	.	.	ENSG00000188878	ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.18016	2.24;2.24	5.34	5.34	0.76211	.	.	.	.	.	T	0.32526	0.0832	M	0.62723	1.935	0.36663	D	0.878065	D;D	0.89917	0.999;1.0	D;D	0.75484	0.935;0.986	T	0.23440	-1.0188	9	0.19590	T	0.45	-29.6778	8.2923	0.31965	0.1566:0.7634:0.0:0.0799	.	891;876	Q8TES7-6;A6NLR5	.;.	R	877;876;890	ENSP00000374221:G877R;ENSP00000324292:G876R	ENSP00000324292:G876R	G	-	1	0	FBF1	71422566	0.632000	0.27172	0.999000	0.59377	0.984000	0.73092	3.244000	0.51399	2.503000	0.84419	0.650000	0.86243	GGG	FBF1	-	NULL	ENSG00000188878		0.672	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	FBF1	HGNC	protein_coding	OTTHUMT00000448945.2	-	0	146	0	C	NM_001080542		73910971	-1	tier1	-	no_errors	ENST00000389570	ensembl	human	known	74_37	missense	19.13	93	22	SNP	0.981	T	T	73910971	C	T	73910971	3	4	87	1	0	0	0	0	1	0	0	0	5717	652	23	1	799	1	FBF1	17	73910971	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	965574	73910971	7284239	1649	24773											
EVPL	2125	genome.wustl.edu	37	chr17	74019420	74019420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgaccctgggtcccacgtCggggggcagcaccatcttct	5	8	13	15	3	2	0	0	0	2	0	5	1	3	0	3	4	1	2	3	4	0	1	rs57576632	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74019420C>T	ENST00000301607.3	-	4	686	c.433G>A	c.(433-435)Gac>Aac	p.D145N	EVPL_ENST00000586740.1_Missense_Mutation_p.D145N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	145	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCCACGTCGGGGGGCAGC	0.622													C|||	19	0.00379393	0.0144	0	5008	,	,		21031	0		0	False		,,,				2504	0																0								C	ASN/ASP	43,4363	44.6+/-78.6	0,43,2160	95	91	92		433	1.5	0	17	dbSNP_129	92	0,8600		0,0,4300	yes	missense	EVPL	NM_001988.2	23	0,43,6460	TT,TC,CC		0.0,0.9759,0.3306	benign	145/2034	74019420	43,12963	2203	4300	6503	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.433G>A	17.37:g.74019420C>T	ENSP00000301607:p.Asp145Asn		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.D145N	ENST00000301607.3	37	c.433	CCDS11737.1	17	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	9.789	1.177399	0.21787	0.009759	0.0	ENSG00000167880	ENST00000301607	T	0.19105	2.17	4.66	1.48	0.22813	.	0.601645	0.17467	N	0.173212	T	0.10078	0.0247	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.08055	0.003;0.0	T	0.18272	-1.0342	10	0.48119	T	0.1	-13.7114	8.9279	0.35652	0.0:0.759:0.0:0.241	rs57576632	145;145	B7ZLH8;Q92817	.;EVPL_HUMAN	N	145	ENSP00000301607:D145N	ENSP00000301607:D145N	D	-	1	0	EVPL	71531015	0.000000	0.05858	0.001000	0.08648	0.090000	0.18270	0.756000	0.26419	0.136000	0.18733	0.561000	0.74099	GAC	EVPL	-	NULL	ENSG00000167880		0.622	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1		0	75	0	C	NM_001988		74019420	-1			no_errors	ENST00000301607	ensembl	human	known	74_37	missense	8.82	61	6	SNP	0.023	T	T	74019420	C	T	74019420	3	4	87	1	0	0	0	0	1	0	0	0	5308	884	31	1	5744	1	EVPL	17	74019420	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	108449	74019420	7175790	1650	24774											
ZACN	353174	genome.wustl.edu	37	chr17	74077707	74077707	+	Frame_Shift_Del	DEL	G	G	-																															tgctgttggctgacgtgtgcGgggggttgctgcccctccgg																								rs146722649		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74077707delG	ENST00000334586.5	+	7	834	c.751delG	c.(751-753)gggfs	p.G252fs	EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	252	Leu-rich.				ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						TGACGTGTGCGGGGGGTTGCT	0.612																																																	0													115	110	112					17																	74077707		2203	4300	6503	SO:0001589	frameshift_variant	0			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"Ligand-gated ion channels / Zinc activated channels"	29504	protein-coding gene	gene with protein product		610935	"ligand-gated ion channel, zinc activated 1"	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.751delG	17.37:g.74077707delG	ENSP00000334854:p.Gly252fs		Q2TB29|Q6ZWK3|Q86YW4	Frame_Shift_Del	DEL	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM	p.L253fs	ENST00000334586.5	37	c.751	CCDS11740.2	17																																																																																			ZACN	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000186919		0.612	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2		0	49	0	G	NM_180990		74077707	1	tier1		no_errors	ENST00000334586	ensembl	human	known	74_37	frame_shift_del	27.03	27	10	DEL	0.950	-	-	74077707	G	-	74077707	7	5	87	1	0	1	0	1	0	0	0	0	17559	1116	39	0	777	0	ZACN	17	74077707	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	58287	74077707	7117503	1651	24775											
UBE2O	63893	genome.wustl.edu	37	chr17	74396248	74396248	+	Frame_Shift_Del	DEL	C	C	-																															cttcttggccatagagccctCcccctgggcgcagttttttt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74396248delC	ENST00000319380.7	-	8	1199	c.1135delG	c.(1135-1137)gagfs	p.E379fs	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	379					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATAGAGCCCTCCCCCTGGGCG	0.562																																																	0													70	65	67					17																	74396248		2203	4300	6503	SO:0001589	frameshift_variant	0			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1135delG	17.37:g.74396248delC	ENSP00000323687:p.Glu379fs		A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Frame_Shift_Del	DEL	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E379fs	ENST00000319380.7	37	c.1135	CCDS32742.1	17																																																																																			UBE2O	-	NULL	ENSG00000175931		0.562	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1		0	65	0	C	NM_022066		74396248	-1	tier1		no_errors	ENST00000319380	ensembl	human	known	74_37	frame_shift_del	33.33	40	20	DEL	1.000	-	-	74396248	C	-	74396248	7	5	87	1	0	1	0	1	0	0	0	0	16917	864	30	0	2787	0	UBE2O	17	74396248	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	318541	74396248	6798962	1652	24776											
MGAT5B	146664	genome.wustl.edu	37	chr17	74936521	74936521	+	Frame_Shift_Del	DEL	C	C	-																															cttcccctacgagggccccgCccccctggaggccatcgcca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:74936521delC	ENST00000569840.2	+	14	2196	c.1622delC	c.(1621-1623)gccfs	p.A541fs	MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.A539fs|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.A550fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	541					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCCCCGCCCCCCTGGAG	0.657																																																	0													80	75	77					17																	74936521		2203	4300	6503	SO:0001589	frameshift_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1622delC	17.37:g.74936521delC	ENSP00000456037:p.Ala541fs		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Del	DEL	superfamily_PyrdxlP-dep_Trfase	p.L552fs	ENST00000569840.2	37	c.1649	CCDS59299.1	17																																																																																			MGAT5B	-	NULL	ENSG00000167889		0.657	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2		0	37	0	C	NM_144677		74936521	1			no_errors	ENST00000428789	ensembl	human	known	74_37	frame_shift_del	13.16	33	5	DEL	1.000	0	-	74936521	C	-	74936521	7	5	87	1	0	1	0	1	0	0	0	0	9587	739	26	0	1767	0	MGAT5B	17	74936521	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	540273	74936521	6258689	1653	24777											
TMC8	147138	genome.wustl.edu	37	chr17	76135299	76135299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgccagggccatccacaGgctccggaagcagctggtgt	9	6	13	13	1	0	0	0	0	0	0	2	1	2	1	4	4	3	3	4	4	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:76135299G>T	ENST00000318430.5	+	15	2254	c.1880G>T	c.(1879-1881)aGg>aTg	p.R627M	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R404M	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	627					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCATCCACAGGCTCCGGAAG	0.642																																																	0													76	66	69					17																	76135299		2203	4300	6503	SO:0001583	missense	0			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"epidermodysplasia verruciformis 2"	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1880G>T	17.37:g.76135299G>T	ENSP00000325561:p.Arg627Met		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.R627M	ENST00000318430.5	37	c.1880	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227858	0.58777	.	.	ENSG00000167895	ENST00000318430	T	0.75821	-0.97	4.86	0.119	0.14685	.	1.152030	0.06460	N	0.729299	T	0.60287	0.2257	L	0.36672	1.1	0.09310	N	1	P	0.35600	0.511	B	0.31751	0.135	T	0.50915	-0.8771	10	0.48119	T	0.1	-3.6007	4.0575	0.09823	0.1844:0.0:0.4931:0.3225	.	627	Q8IU68	TMC8_HUMAN	M	627	ENSP00000325561:R627M	ENSP00000325561:R627M	R	+	2	0	TMC8	73646894	0.000000	0.05858	0.359000	0.25824	0.979000	0.70002	-0.156000	0.10100	0.094000	0.17404	0.585000	0.79938	AGG	TMC8	-	NULL	ENSG00000167895		0.642	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	-	0	30	0	G			76135299	1	tier1	-	no_errors	ENST00000318430	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.139	T	T	76135299	G	T	76135299	3	4	87	1	0	0	0	0	1	0	0	0	16038	1000	35	3	1934	3	TMC8	17	76135299	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1198778	76135299	5059911	1654	24778											
USP36	57602	genome.wustl.edu	37	chr17	76798547	76798547	+	Frame_Shift_Del	DEL	T	T	-																															ccgctgtgtctcctgctttcTttttttctttttctttttcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:76798547delT	ENST00000542802.3	-	17	3324	c.2881delA	c.(2881-2883)agafs	p.R961fs	USP36_ENST00000449938.2_Frame_Shift_Del_p.R566fs|USP36_ENST00000312010.6_Frame_Shift_Del_p.R961fs			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	959					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCCTGCTTTCTTTTTTTCTTT	0.532																																																	0													54	43	47					17																	76798547		2203	4300	6503	SO:0001589	frameshift_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2881delA	17.37:g.76798547delT	ENSP00000441214:p.Arg961fs		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R961fs	ENST00000542802.3	37	c.2881	CCDS32755.1	17																																																																																			USP36	-	NULL	ENSG00000055483		0.532	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3		0	106	0	T	NM_025090		76798547	-1	tier1		no_errors	ENST00000312010	ensembl	human	known	74_37	frame_shift_del	15.71	59	11	DEL	0.566	-	-	76798547	T	-	76798547	7	5	87	1	0	1	0	1	0	0	0	0	17116	1617	56	0	506	0	USP36	17	76798547	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	663248	76798547	4396663	1655	24779											
GAA	2548	genome.wustl.edu	37	chr17	78086479	78086479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacgggggacgtgtggagCtcctgggagcagctcgcctc	5	7	18	11	3	0	0	0	0	0	0	3	4	1	4	2	5	3	3	2	5	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78086479C>A	ENST00000302262.3	+	13	2076	c.1857C>A	c.(1855-1857)agC>agA	p.S619R	GAA_ENST00000390015.3_Missense_Mutation_p.S619R	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	619			S -> R (in GSD2; loss of function of the mutant enzyme). {ECO:0000269|PubMed:14643388}.		cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	ACGTGTGGAGCTCCTGGGAGC	0.687																																																	0			GRCh37	CM034955	GAA	M							16	16	16					17																	78086479		2197	4294	6491	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"Pompe disease", "glycogen storage disease type II"	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1857C>A	17.37:g.78086479C>A	ENSP00000305692:p.Ser619Arg		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.S619R	ENST00000302262.3	37	c.1857	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218398	0.58560	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.93019	-3.15;-3.15	4.8	3.82	0.43975	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97009	0.9023	M	0.93241	3.395	0.37453	D	0.914882	D	0.89917	1.0	D	0.91635	0.999	D	0.98147	1.0439	10	0.87932	D	0	-42.521	9.779	0.40637	0.0:0.8312:0.0:0.1688	.	619	P10253	LYAG_HUMAN	R	619	ENSP00000305692:S619R;ENSP00000374665:S619R	ENSP00000305692:S619R	S	+	3	2	GAA	75701074	0.989000	0.36119	0.996000	0.52242	0.314000	0.28054	1.979000	0.40608	2.187000	0.69744	0.561000	0.74099	AGC	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000171298		0.687	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0	117	0	C			78086479	1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	19.74	61	15	SNP	0.999	A	A	78086479	C	A	78086479	3	1	87	1	0	0	0	0	1	0	0	0	6171	796	28	3	1903	3	GAA	17	78086479	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1287932	78086479	3108731	1656	24780											
CARD14	79092	genome.wustl.edu	37	chr17	78163639	78163639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatccactcgctgcgggagCgggccgtggctgccgagagg	5	5	18	13	5	0	1	0	0	0	1	2	3	1	2	3	4	3	3	3	4	0	0	rs145167842	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78163639C>T	ENST00000573882.1	+	8	1467	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.R311W|CARD14_ENST00000392434.2_Missense_Mutation_p.R74W|CARD14_ENST00000570421.1_Missense_Mutation_p.R311W			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	311					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTGCGGGAGCGGGCCGTGGC	0.682																																																	0													21	28	26					17																	78163639		2201	4289	6490	SO:0001583	missense	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.931C>T	17.37:g.78163639C>T	ENSP00000458715:p.Arg311Trp		B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like	p.R311W	ENST00000573882.1	37	c.931	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043563	0.36085	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.35789	1.29;1.29	4.06	0.432	0.16529	.	0.213404	0.38837	N	0.001556	T	0.45895	0.1365	L	0.44542	1.39	0.23685	N	0.997115	D;D;D	0.89917	0.999;1.0;0.999	P;D;P	0.68765	0.642;0.96;0.732	T	0.34576	-0.9823	10	0.87932	D	0	-32.4913	10.7825	0.46386	0.4916:0.5084:0.0:0.0	.	311;74;311	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	W	311;74;74	ENSP00000344549:R311W;ENSP00000376229:R74W	ENSP00000308507:R74W	R	+	1	2	CARD14	75778234	0.928000	0.31464	0.989000	0.46669	0.027000	0.11550	-0.010000	0.12743	0.333000	0.23563	-0.230000	0.12252	CGG	CARD14	-	NULL	ENSG00000141527		0.682	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	-	0	91	0	C			78163639	1	tier1	-	no_errors	ENST00000344227	ensembl	human	known	74_37	missense	20.24	66	17	SNP	0.963	T	T	78163639	C	T	78163639	3	4	87	1	0	0	0	0	1	0	0	0	2653	759	27	1	949	1	CARD14	17	78163639	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	77160	78163639	3031571	1657	24781											
CARD14	79092	genome.wustl.edu	37	chr17	78176100	78176100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgcaggtgcattgcaaCgaggtcctgcacgtcaccga	9	7	13	12	3	1	0	1	0	0	0	2	3	2	0	2	2	6	5	2	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78176100C>T	ENST00000573882.1	+	17	2636	c.2100C>T	c.(2098-2100)aaC>aaT	p.N700N	RP11-334C17.5_ENST00000573935.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|CARD14_ENST00000344227.2_Silent_p.N700N|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000392434.2_Missense_Mutation_p.T421M|CARD14_ENST00000570421.1_Silent_p.N700N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	700					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCATTGCAACGAGGTCCTGC	0.627																																																	0													73	64	67					17																	78176100		2203	4300	6503	SO:0001819	synonymous_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"psoriasis susceptibility 2"	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2100C>T	17.37:g.78176100C>T			B8QQJ3|Q9BVB5	Missense_Mutation	SNP	superfamily_PDZ	p.T421M	ENST00000573882.1	37	c.1262	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	5.524	0.281532	0.10458	.	.	ENSG00000141527	ENST00000392434	T	0.16897	2.31	4.88	-9.13	0.00704	.	.	.	.	.	T	0.18676	0.0448	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.45512	-0.9256	6	0.87932	D	0	-12.2286	11.9799	0.53113	0.0:0.6094:0.1031:0.2875	.	.	.	.	M	421	ENSP00000376229:T421M	ENSP00000376229:T421M	T	+	2	0	CARD14	75790695	0.025000	0.19082	0.001000	0.08648	0.082000	0.17680	-1.082000	0.03400	-1.977000	0.00994	-0.812000	0.03155	ACG	CARD14	-	NULL	ENSG00000141527		0.627	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	-	0	41	0	C			78176100	1	tier1	-	no_errors	ENST00000392434	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.089	T	T	78176100	C	T	78176100	2	4	87	1	0	0	0	0	0	0	0	1	2653	535	19	1		1	CARD14	17	78176100	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	12461	78176100	3019110	1658	24782											
RNF213	57674	genome.wustl.edu	37	chr17	78367233	78367233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcccagaagagatactgCtcgccagctgtgtctcagtg	9	10	11	11	1	1	2	1	0	1	2	4	3	2	2	2	0	3	3	2	0	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:78367233C>A	ENST00000582970.1	+	68	15702	c.15559C>A	c.(15559-15561)Ctc>Atc	p.L5187I	RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000336301.6_Missense_Mutation_p.L3260I|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.L5236I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5187				L -> P (in Ref. 7; BAB15330). {ECO:0000305}.	ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAGATACTGCTCGCCAGCTG	0.418																																																	0													93	89	90					17																	78367233		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15559C>A	17.37:g.78367233C>A	ENSP00000464087:p.Leu5187Ile		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L5187I	ENST00000582970.1	37	c.15559	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299764	0.60195	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.38560	1.13	4.46	3.45	0.39498	.	0.084390	0.47852	D	0.000210	T	0.50292	0.1607	M	0.80183	2.485	0.18873	N	0.999987	D;D	0.56968	0.973;0.978	P;P	0.50049	0.587;0.629	T	0.49370	-0.8947	10	0.66056	D	0.02	.	7.3595	0.26737	0.1744:0.74:0.0:0.0857	.	5187;3260	D6RI12;Q63HN8	.;RN213_HUMAN	I	5187;5236;3260;537	ENSP00000338218:L3260I	ENSP00000338218:L3260I	L	+	1	0	RNF213	75981828	0.939000	0.31865	0.011000	0.14972	0.076000	0.17211	2.012000	0.40932	0.940000	0.37473	0.563000	0.77884	CTC	RNF213	-	NULL	ENSG00000173821		0.418	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	59	0	C	NM_020914		78367233	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	25.00	51	17	SNP	0.477	A	A	78367233	C	A	78367233	3	1	87	1	0	0	0	0	1	0	0	0	13522	797	28	3	16144	3	RNF213	17	78367233	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	191133	78367233	2827977	1659	24783											
PYCR1	5831	genome.wustl.edu	37	chr17	79892835	79892835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactgagccccgtgacGgcatcaatcaggtcctcttc	7	9	9	16	2	3	2	2	2	1	0	5	2	4	2	4	2	2	1	4	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:79892835G>A	ENST00000329875.8	-	4	571	c.507C>T	c.(505-507)gcC>gcT	p.A169A	PYCR1_ENST00000403172.4_Silent_p.A169A|PYCR1_ENST00000337943.5_Silent_p.A169A|PYCR1_ENST00000577756.1_Silent_p.A169A|RP11-498C9.13_ENST00000583521.1_RNA|PYCR1_ENST00000402252.2_Silent_p.A196A	NM_001282280.1|NM_001282281.1|NM_006907.2	NP_001269209.1|NP_001269210.1|NP_008838.2	P32322	P5CR1_HUMAN	pyrroline-5-carboxylate reductase 1	169					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to oxidative stress (GO:0034599)|L-proline biosynthetic process (GO:0055129)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|proline biosynthetic process (GO:0006561)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|pyrroline-5-carboxylate reductase activity (GO:0004735)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)	GCCCCGTGACGGCATCAATCA	0.692																																																	0													45	39	41					17																	79892835		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS11794.1, CCDS11795.1, CCDS62365.1, CCDS62366.1	17q25.3	2013-09-23			ENSG00000183010	ENSG00000183010	1.5.1.2		9721	protein-coding gene	gene with protein product		179035				1730675	Standard	XM_005256381		Approved	P5C	uc002kcr.1	P32322	OTTHUMG00000178436	ENST00000329875.8:c.507C>T	17.37:g.79892835G>A			A6NFM2|B4DMU0|Q6FHI4|Q96DI6|Q9HBQ4	Silent	SNP	pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.A169	ENST00000329875.8	37	c.507	CCDS11795.1	17																																																																																			PYCR1	-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	ENSG00000183010		0.692	PYCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCR1	HGNC	protein_coding	OTTHUMT00000441953.1	-	0	73	0	G			79892835	-1	tier1	-	no_errors	ENST00000329875	ensembl	human	known	74_37	silent	13.56	51	8	SNP	0.877	A	A	79892835	G	A	79892835	2	1	87	1	0	0	0	0	0	0	0	1	12900	1103	39	1		1	PYCR1	17	79892835	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1525602	79892835	1302375	1660	24784											
C17orf101	79701	genome.wustl.edu	37	chr17	80373456	80373456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggtccttagccacggcCtctgccacagcctctgcacc	5	7	9	20	3	2	0	0	0	2	0	3	0	3	0	7	2	4	1	7	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:80373456C>A	ENST00000313056.5	-	2	273	c.122G>T	c.(121-123)aGg>aTg	p.R41M	Y_RNA_ENST00000364369.1_RNA|OGFOD3_ENST00000329197.5_Missense_Mutation_p.R41M|HEXDC_ENST00000337014.6_5'Flank	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	41						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										TAGCCACGGCCTCTGCCACAG	0.657																																																	0													28	31	30					17																	80373456		2203	4300	6503	SO:0001583	missense	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 101"	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.122G>T	17.37:g.80373456C>A	ENSP00000320116:p.Arg41Met		C9JDC8|Q8IZ37|Q9H6J2	Missense_Mutation	SNP	smart_Pro_4_hyd_alph	p.R41M	ENST00000313056.5	37	c.122	CCDS11811.1	17	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858344	0.51376	.	.	ENSG00000181396	ENST00000313056;ENST00000329197	T;T	0.35421	1.79;1.31	5.0	0.555	0.17247	.	0.726201	0.12512	N	0.462391	T	0.44307	0.1287	L	0.61218	1.895	0.09310	N	1	P;P	0.49447	0.79;0.924	B;P	0.53313	0.436;0.723	T	0.30822	-0.9965	10	0.87932	D	0	-8.2603	7.2092	0.25925	0.0:0.5037:0.0:0.4963	.	41;41	Q6PK18;Q6PK18-2	CQ101_HUMAN;.	M	41	ENSP00000320116:R41M;ENSP00000330075:R41M	ENSP00000320116:R41M	R	-	2	0	C17orf101	77966745	0.071000	0.21146	0.000000	0.03702	0.055000	0.15305	0.281000	0.18810	0.098000	0.17522	0.655000	0.94253	AGG	OGFOD3	-	NULL	ENSG00000181396		0.657	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD3	HGNC	protein_coding	OTTHUMT00000442895.1	-	0	100	0	C	NM_175902		80373456	-1	tier1	-	no_errors	ENST00000329197	ensembl	human	known	74_37	missense	16.67	90	18	SNP	0.001	A	A	80373456	C	A	80373456	3	1	87	1	0	0	0	0	1	0	0	0	1853	681	24	3	1046	3	C17orf101	17	80373456	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	480621	80373456	821754	1661	24785											
C17orf62	79415	genome.wustl.edu	37	chr17	80401904	80401904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcttgcagggtcaccGgcctcactgtcgctgctctg	3	11	12	15	2	4	0	2	0	2	0	5	0	4	0	2	3	2	4	2	3	0	1	rs368098528		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr17:80401904G>A	ENST00000437807.2	-	8	857	c.540C>T	c.(538-540)gcC>gcT	p.A180A	C17orf62_ENST00000578919.1_Silent_p.A180A|C17orf62_ENST00000577732.1_Silent_p.A180A|C17orf62_ENST00000583359.1_5'Flank|C17orf62_ENST00000306645.5_Silent_p.A180A|C17orf62_ENST00000585080.1_Silent_p.A180A|C17orf62_ENST00000434650.2_Silent_p.A166A|C17orf62_ENST00000577436.1_Silent_p.A166A|C17orf62_ENST00000583617.1_Intron|C17orf62_ENST00000342572.8_Silent_p.A56A|C17orf62_ENST00000585064.1_Silent_p.A180A|C17orf62_ENST00000336995.7_Missense_Mutation_p.P32L	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	180						integral component of membrane (GO:0016021)				breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CAGGGTCACCGGCCTCACTGT	0.642																																																	0								G	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	108	103	105		540,540,498,540,540,540,540	-4.8	0	17		105	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	C17orf62	NM_001033046.3,NM_001100407.2,NM_001100408.2,NM_001193653.1,NM_001193654.1,NM_001193655.1,NM_001193657.1	,,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,	180/188,180/188,166/174,180/188,180/188,180/188,180/188	80401904	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK074950	CCDS32776.1, CCDS45817.1	17q25.3	2014-06-09			ENSG00000178927	ENSG00000178927			28672	protein-coding gene	gene with protein product							Standard	NM_001100407		Approved	MGC4368, FLJ90469	uc021ufr.1	Q9BQA9		ENST00000437807.2:c.540C>T	17.37:g.80401904G>A			E1B6X3|Q96NR1	Missense_Mutation	SNP	NULL	p.P32L	ENST00000437807.2	37	c.95	CCDS32776.1	17	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267920	0.40095	2.27E-4	0.0	ENSG00000178927	ENST00000342572;ENST00000536759;ENST00000336995	.	.	.	4.98	-4.76	0.03229	.	.	.	.	.	T	0.14657	0.0354	.	.	.	0.19575	N	0.999967	P	0.42161	0.772	B	0.31290	0.127	T	0.06752	-1.0809	7	0.54805	T	0.06	.	4.2927	0.10886	0.5274:0.0996:0.2722:0.1009	.	70	Q8NEZ9	.	L	70;37;32	.	ENSP00000337560:P32L	P	-	2	0	C17orf62	77995193	0.000000	0.05858	0.017000	0.16124	0.202000	0.24057	-1.777000	0.01780	-1.411000	0.02032	0.561000	0.74099	CCG	C17orf62	-	NULL	ENSG00000178927		0.642	C17orf62-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C17orf62	HGNC	protein_coding	OTTHUMT00000443260.1	-	0	88	0	G	NM_001033046		80401904	-1	tier1	-	no_errors	ENST00000336995	ensembl	human	known	74_37	missense	14.95	91	16	SNP	0.003	A	A	80401904	G	A	80401904	2	1	87	1	0	0	0	0	0	0	0	1	1876	1103	39	1		1	C17orf62	17	80401904	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	28448	80401904	793306	1662	24786											
YES1	7525	genome.wustl.edu	37	chr18	743079	743079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttttgattgctactttcGtggttccattccatgttcct	4	20	8	9	1	0	1	0	1	0	0	4	1	3	1	3	1	2	4	3	1	1	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:743079G>A	ENST00000584307.1	-	8	1069	c.899C>T	c.(898-900)aCg>aTg	p.T300M	YES1_ENST00000314574.4_Missense_Mutation_p.T300M|YES1_ENST00000577961.1_Missense_Mutation_p.T305M			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	300	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGCTACTTTCGTGGTTCCATT	0.313																																																	0													107	102	103					18																	743079		2203	4299	6502	SO:0001583	missense	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"SH2 domain containing"	12841	protein-coding gene	gene with protein product		164880	"v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.899C>T	18.37:g.743079G>A	ENSP00000462468:p.Thr300Met		A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.T300M	ENST00000584307.1	37	c.899	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382247	0.82792	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.82893	-1.66	5.78	5.78	0.91487	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.63428	1.95	0.80722	D	1	D	0.71674	0.998	P	0.60415	0.874	D	0.89237	0.3581	10	0.62326	D	0.03	.	20.0215	0.97504	0.0:0.0:1.0:0.0	.	300	P07947	YES_HUMAN	M	300	ENSP00000324740:T300M	ENSP00000324740:T300M	T	-	2	0	YES1	733079	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.639000	0.98448	2.735000	0.93741	0.650000	0.86243	ACG	YES1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000176105		0.313	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0	67	0	G	NM_005433		743079	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	A	A	743079	G	A	743079	3	1	87	1	0	0	0	0	1	0	0	0	17523	1145	40	1	752	1	YES1	18	743079	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09		743079	77334169	1663	24787											
EPB41L3	23136	genome.wustl.edu	37	chr18	5406823	5406823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatcctcctgcctggCggccagtcgcacgggggagg	4	5	19	13	3	0	0	0	0	0	0	3	1	2	1	4	7	1	2	4	7	0	0	rs558098862		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:5406823C>T	ENST00000341928.2	-	16	2642	c.2302G>A	c.(2302-2304)Gcc>Acc	p.A768T	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	768	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A768S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCTGCCTGGCGGCCAGTCGC	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											120	100	107					18																	5406823		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2302G>A	18.37:g.5406823C>T	ENSP00000343158:p.Ala768Thr		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A768T	ENST00000341928.2	37	c.2302	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	11.32	1.605429	0.28623	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;D;T;T;T;D	0.82433	-1.42;-1.58;-0.06;-0.07;-1.42;-1.61	6.02	4.98	0.66077	.	0.283151	0.40818	N	0.001004	D	0.86802	0.6020	L	0.60455	1.87	0.34986	D	0.754539	P;D;D;P;P;P;P;D	0.89917	0.921;1.0;1.0;0.9;0.826;0.524;0.731;0.971	B;D;D;B;B;B;B;B	0.87578	0.361;0.993;0.998;0.349;0.238;0.155;0.139;0.298	D	0.83537	0.0094	10	0.09084	T	0.74	.	12.5199	0.56054	0.0:0.8598:0.0:0.1402	.	599;40;40;160;478;587;768;40	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	768;478;599;478;40;40;768;587	ENSP00000343158:A768T;ENSP00000441174:A599T;ENSP00000392195:A40T;ENSP00000442233:A40T;ENSP00000341138:A768T;ENSP00000382981:A587T	ENSP00000343158:A768T	A	-	1	0	EPB41L3	5396823	0.513000	0.26194	0.973000	0.42090	0.716000	0.41182	0.855000	0.27805	2.865000	0.98341	0.655000	0.94253	GCC	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.532	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	89	0	C	NM_012307		5406823	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.889	T	T	5406823	C	T	5406823	3	4	87	1	0	0	0	0	1	0	0	0	5170	768	27	1	989	1	EPB41L3	18	5406823	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4663744	5406823	72670425	1664	24788											
EPB41L3	23136	genome.wustl.edu	37	chr18	5406836	5406836	+	Frame_Shift_Del	DEL	G	G	-																															tgcctggcggccagtcgcacGggggaggtggaaagcctctt																								rs569408156	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:5406836delG	ENST00000341928.2	-	16	2629	c.2289delC	c.(2287-2289)cccfs	p.P763fs	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Frame_Shift_Del_p.P35fs|EPB41L3_ENST00000427684.2_Frame_Shift_Del_p.P35fs|EPB41L3_ENST00000544123.1_Frame_Shift_Del_p.P594fs|EPB41L3_ENST00000540638.2_Frame_Shift_Del_p.P582fs|EPB41L3_ENST00000400111.3_Frame_Shift_Del_p.P582fs|EPB41L3_ENST00000342933.3_Frame_Shift_Del_p.P763fs	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	763	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCAGTCGCACGGGGGAGGTGG	0.507																																																	0													150	123	132					18																	5406836		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2289delC	18.37:g.5406836delG	ENSP00000343158:p.Pro763fs		B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Del	DEL	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.V764fs	ENST00000341928.2	37	c.2289	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein,pfam_SAB_dom	ENSG00000082397		0.507	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1		0	96	0	G	NM_012307		5406836	-1	tier1		no_errors	ENST00000341928	ensembl	human	known	74_37	frame_shift_del	15.28	61	11	DEL	0.000	-	-	5406836	G	-	5406836	7	5	87	1	0	1	0	1	0	0	0	0	5170	1103	39	0	1002	0	EPB41L3	18	5406836	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	13	5406836	72670412	1665	24789											
L3MBTL4	91133	genome.wustl.edu	37	chr18	6093420	6093420	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaggctttttgattttGaatgtgaagagtctgattcc	10	16	10	5	0	1	6	0	4	1	2	2	6	2	6	1	1	1	1	1	1	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:6093420G>T	ENST00000284898.6	-	15	1507	c.1307C>A	c.(1306-1308)tCa>tAa	p.S436*	L3MBTL4_ENST00000535782.1_Nonsense_Mutation_p.S249*|L3MBTL4_ENST00000400104.3_Nonsense_Mutation_p.S436*|L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.S436*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.S436*	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	436					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTTGATTTTGAATGTGAAGA	0.398																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													143	141	142					18																	6093420		2203	4299	6502	SO:0001587	stop_gained	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"Sterile alpha motif (SAM) domain containing"	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1307C>A	18.37:g.6093420G>T	ENSP00000284898:p.Ser436*		A8MTL8|Q8IXS3	Nonsense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.S436*	ENST00000284898.6	37	c.1307	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	G	37	6.135087	0.97315	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	.	.	.	5.39	2.57	0.30868	.	0.546700	0.16077	N	0.230696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6331	0.28251	0.2797:0.0:0.7203:0.0	.	.	.	.	X	436;436;436;249;436	.	ENSP00000284898:S436X	S	-	2	0	L3MBTL4	6083420	0.709000	0.27886	0.246000	0.24233	0.638000	0.38207	0.712000	0.25779	0.320000	0.23234	-0.123000	0.14984	TCA	L3MBTL4	-	NULL	ENSG00000154655		0.398	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0	89	0	G	NM_173464		6093420	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	0.422	T	T	6093420	G	T	6093420	4	4	87	1	0	0	0	0	0	1	0	0	8622	1294	45	3	588	3	L3MBTL4	18	6093420	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	686584	6093420	71983828	1666	24790											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6873435	6873435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcagaaaaccagatttGgcttaactgaagcaggagat	15	10	10	6	0	1	4	1	1	0	3	1	5	1	4	1	2	3	3	1	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:6873435G>T	ENST00000383472.4	+	8	1086	c.982G>T	c.(982-984)Ggc>Tgc	p.G328C	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.G151C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.G276C|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.G164C|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.G169C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.G169C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.G328C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.G169C			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	328					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AACCAGATTTGGCTTAACTGA	0.363																																																	0													117	117	117					18																	6873435		2203	4300	6503	SO:0001583	missense	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.982G>T	18.37:g.6873435G>T	ENSP00000372964:p.Gly328Cys		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G328C	ENST00000383472.4	37	c.982		18	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148372	0.78001	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.18174	2.5;2.47;2.27;2.41;2.27;2.23	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	M	0.78456	2.415	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.41627	-0.9498	10	0.54805	T	0.06	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	328;160;169;276	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	C	328;276;169;164;169;169;160;151	ENSP00000382963:G328C;ENSP00000262227:G276C;ENSP00000392660:G169C;ENSP00000437262:G164C;ENSP00000313506:G169C;ENSP00000406907:G169C	ENSP00000262227:G276C	G	+	1	0	ARHGAP28	6863435	1.000000	0.71417	0.999000	0.59377	0.890000	0.51754	7.103000	0.77014	2.614000	0.88457	0.650000	0.86243	GGC	ARHGAP28	-	NULL	ENSG00000088756		0.363	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	55	0	G	XM_371108		6873435	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	T	T	6873435	G	T	6873435	3	4	87	1	0	0	0	0	1	0	0	0	877	1348	47	3	527	3	ARHGAP28	18	6873435	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	780015	6873435	71203813	1667	24791											
LAMA1	284217	genome.wustl.edu	37	chr18	6995375	6995375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttttgcaggttgtccGtttcttctgcaacaccttca	5	17	6	13	1	4	0	1	0	3	0	5	0	5	0	3	1	3	4	3	1	1	7	rs201454996		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:6995375G>A	ENST00000389658.3	-	34	4970	c.4877C>T	c.(4876-4878)aCg>aTg	p.T1626M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1626	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAGGTTGTCCGTTTCTTCTGC	0.428													G|||	1	0.000199681	0	0	5008	,	,		17091	0		0	False		,,,				2504	0.001																0								G	MET/THR	0,4406		0,0,2203	236	216	223		4877	2.3	0	18		223	2,8594	2.2+/-6.3	0,2,4296	yes	missense	LAMA1	NM_005559.3	81	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	1626/3076	6995375	2,13000	2203	4298	6501	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4877C>T	18.37:g.6995375G>A	ENSP00000374309:p.Thr1626Met			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.T1626M	ENST00000389658.3	37	c.4877	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.705677	0.00719	0.0	2.33E-4	ENSG00000101680	ENST00000389658	T	0.11712	2.75	5.07	2.3	0.28687	Laminin I (1);	0.658250	0.14959	N	0.288492	T	0.08802	0.0218	L	0.50333	1.59	0.09310	N	1	B	0.31655	0.334	B	0.28385	0.089	T	0.35624	-0.9781	10	0.11794	T	0.64	.	7.993	0.30252	0.2673:0.0:0.7327:0.0	.	1626	P25391	LAMA1_HUMAN	M	1626	ENSP00000374309:T1626M	ENSP00000374309:T1626M	T	-	2	0	LAMA1	6985375	0.006000	0.16342	0.002000	0.10522	0.006000	0.05464	0.409000	0.21082	0.382000	0.24878	-0.133000	0.14855	ACG	LAMA1	-	pfam_Laminin_I	ENSG00000101680		0.428	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0	80	0	G	NM_005559		6995375	-1	tier1	rs201454996	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	28.12	67	27	SNP	0.007	A	A	6995375	G	A	6995375	3	1	87	1	0	0	0	0	1	0	0	0	8633	1145	40	1	4470	1	LAMA1	18	6995375	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	121940	6995375	71081873	1668	24792											
LAMA1	284217	genome.wustl.edu	37	chr18	7024414	7024414	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgagtagcccggggcacaCcagtcacagaccacttcatc	10	6	9	16	1	2	2	2	1	0	1	3	2	2	2	4	2	1	2	4	2	1	2	rs376146127		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:7024414C>T	ENST00000389658.3	-	18	2547	c.2454G>A	c.(2452-2454)tgG>tgA	p.W818*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	818	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCGGGGCACACCAGTCACAGA	0.423																																																	0													58	52	54					18																	7024414		2203	4300	6503	SO:0001587	stop_gained	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2454G>A	18.37:g.7024414C>T	ENSP00000374309:p.Trp818*			Nonsense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.W818*	ENST00000389658.3	37	c.2454	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	38	6.639875	0.97726	.	.	ENSG00000101680	ENST00000389658	.	.	.	6.01	5.13	0.70059	.	0.246503	0.34700	N	0.003759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	8.7757	0.34760	0.0:0.7502:0.1508:0.099	.	.	.	.	X	818	.	ENSP00000374309:W818X	W	-	3	0	LAMA1	7014414	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	1.668000	0.37481	1.539000	0.49286	0.643000	0.83706	TGG	LAMA1	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom	ENSG00000101680		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1		0	71	0	C	NM_005559		7024414	-1			no_errors	ENST00000389658	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	1.000	T	T	7024414	C	T	7024414	4	4	87	1	0	0	0	0	0	1	0	0	8633	508	18	3	6957	3	LAMA1	18	7024414	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	29039	7024414	71052834	1669	24793											
PTPRM	5797	genome.wustl.edu	37	chr18	7955190	7955190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggatacagctcaacGccaactccatcaatggggat	12	8	9	12	1	2	0	2	0	0	0	3	2	3	2	3	3	4	1	3	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:7955190G>A	ENST00000332175.8	+	7	1947	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A242T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A91T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A304T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A304T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	304	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACAGCTCAACGCCAACTCCAT	0.577																																																	0													60	57	58					18																	7955190		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.910G>A	18.37:g.7955190G>A	ENSP00000331418:p.Ala304Thr		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A304T	ENST00000332175.8	37	c.910	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219586	0.58560	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051382	0.85682	D	0.000000	T	0.35828	0.0945	N	0.10733	0.035	0.54753	D	0.999989	B;B;B	0.23937	0.094;0.057;0.057	B;B;B	0.25614	0.062;0.022;0.022	T	0.28170	-1.0052	10	0.10377	T	0.69	.	13.7	0.62602	0.07:0.0:0.93:0.0	.	91;304;304	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	304;304;242;91	ENSP00000331418:A304T;ENSP00000382933:A304T;ENSP00000382927:A242T;ENSP00000387608:A91T	ENSP00000331418:A304T	A	+	1	0	PTPRM	7945190	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	8.061000	0.89467	2.865000	0.98341	0.655000	0.94253	GCC	PTPRM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000173482		0.577	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	32	0	G			7955190	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	A	A	7955190	G	A	7955190	3	1	87	1	0	0	0	0	1	0	0	0	12851	1087	38	1	936	1	PTPRM	18	7955190	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	930776	7955190	70122058	1670	24794											
KIAA0802	23255	genome.wustl.edu	37	chr18	8818982	8818982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaagagaacagtcccCggagaggtggcagtttcctc	11	7	13	10	1	0	3	0	0	0	3	3	5	2	3	3	3	2	3	3	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:8818982C>T	ENST00000306329.11	+	11	3838	c.3838C>T	c.(3838-3840)Cgg>Tgg	p.R1280W	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000359865.3_Missense_Mutation_p.R961W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R920W|SOGA2_ENST00000517570.1_Missense_Mutation_p.R920W|SOGA2_ENST00000306285.7_Intron														p.R961R(1)									GAACAGTCCCCGGAGAGGTGG	0.498																																																	1	Substitution - coding silent(1)	lung(1)																																								SO:0001583	missense	0																														ENST00000306329.11:c.3838C>T	18.37:g.8818982C>T	ENSP00000305027:p.Arg1280Trp			Missense_Mutation	SNP	pfam_SOGA	p.R961W	ENST00000306329.11	37	c.2881		18	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842989	0.71488	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.52057	0.68;0.68;0.68	5.96	5.08	0.68730	.	0.149838	0.31721	N	0.007172	T	0.54303	0.1850	L	0.55834	1.745	0.32014	N	0.601649	D	0.63046	0.992	P	0.55965	0.788	T	0.63972	-0.6516	10	0.62326	D	0.03	-22.9749	9.4836	0.38915	0.2422:0.6911:0.0:0.0667	.	961	Q9Y4B5-3	.	W	982;920;961;920	ENSP00000429556:R920W;ENSP00000352927:R961W;ENSP00000382924:R920W	ENSP00000305027:R982W	R	+	1	2	CCDC165	8808982	0.031000	0.19500	0.998000	0.56505	0.938000	0.57974	1.226000	0.32563	2.813000	0.96785	0.655000	0.94253	CGG	SOGA2	-	NULL	ENSG00000168502		0.498	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0	37	0	C			8818982	1	tier1	rs149462341	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.453	T	T	8818982	C	T	8818982	3	4	87	1	0	0	0	0	1	0	0	0	8221	643	23	1	2923	1	KIAA0802	18	8818982	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	863792	8818982	69258266	1671	24795											
KIAA0802	23255	genome.wustl.edu	37	chr18	8825003	8825003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgtcaccatgaccacGgacaccatgaccagcccaga	14	4	8	15	1	1	3	1	2	0	1	1	4	1	4	5	1	1	0	5	1	1	0	rs114022207		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:8825003G>A	ENST00000306329.11	+	13	4452	c.4452G>A	c.(4450-4452)acG>acA	p.T1484T	SOGA2_ENST00000518815.1_Silent_p.T490T|SOGA2_ENST00000359865.3_Silent_p.T1165T|SOGA2_ENST00000400050.3_Silent_p.T1124T|SOGA2_ENST00000517570.1_Silent_p.T1124T|SOGA2_ENST00000306285.7_Silent_p.T490T																							CCATGACCACGGACACCATGA	0.662													G|||	1	0.000199681	0	0	5008	,	,		17387	0		0.001	False		,,,				2504	0																0													73	50	57					18																	8825003		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000306329.11:c.4452G>A	18.37:g.8825003G>A				Silent	SNP	pfam_SOGA	p.T1165	ENST00000306329.11	37	c.3495		18																																																																																			SOGA2	-	NULL	ENSG00000168502		0.662	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0	50	0	G			8825003	1	tier1	rs114022207	no_errors	ENST00000359865	ensembl	human	known	74_37	silent	24.56	43	14	SNP	0.616	A	A	8825003	G	A	8825003	2	1	87	1	0	0	0	0	0	0	0	1	8221	1103	39	1		1	KIAA0802	18	8825003	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6021	8825003	69252245	1672	24796											
PPP4R1	9989	genome.wustl.edu	37	chr18	9547802	9547802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctagtaggttgaggaCgctgtgctcatggcatcttc	6	13	12	10	1	3	1	1	1	2	0	4	2	3	2	1	3	1	5	1	3	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:9547802C>T	ENST00000400556.3	-	20	2911	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	PPP4R1_ENST00000400555.3_Silent_p.A929A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	946					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						AGGTTGAGGACGCTGTGCTCA	0.522																																					Melanoma(188;1232 2082 5061 11948 35994)												0													152	158	156					18																	9547802		2075	4205	6280	SO:0001819	synonymous_variant	0			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2838G>A	18.37:g.9547802C>T			Q99774|Q9UNQ7	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A946	ENST00000400556.3	37	c.2838	CCDS42412.1	18																																																																																			PPP4R1	-	NULL	ENSG00000154845		0.522	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	-	0	18	0	C	NM_005134		9547802	-1	tier1	-	no_errors	ENST00000400556	ensembl	human	known	74_37	silent	26.09	17	6	SNP	0.272	T	T	9547802	C	T	9547802	2	4	87	1	0	0	0	0	0	0	0	1	12445	523	19	1		1	PPP4R1	18	9547802	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	722799	9547802	68529446	1673	24797											
PPP4R1	9989	genome.wustl.edu	37	chr18	9549281	9549281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaaggttagcagatgcGgcatgagatgcacagcaaac	13	8	12	8	1	0	2	0	1	0	2	0	3	0	2	0	2	6	6	0	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:9549281G>A	ENST00000400556.3	-	19	2676	c.2603C>T	c.(2602-2604)cCg>cTg	p.P868L	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P851L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	868					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TAGCAGATGCGGCATGAGATG	0.478																																					Melanoma(188;1232 2082 5061 11948 35994)												0													153	148	150					18																	9549281		2004	4182	6186	SO:0001583	missense	0			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2603C>T	18.37:g.9549281G>A	ENSP00000383402:p.Pro868Leu		Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P868L	ENST00000400556.3	37	c.2603	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024830	0.93518	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.38077	1.16;1.16	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.123332	0.56097	D	0.000027	T	0.67239	0.2872	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.75484	0.911;0.986;0.966	T	0.70321	-0.4904	9	.	.	.	-20.0134	19.7759	0.96393	0.0:0.0:1.0:0.0	.	851;868;851	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	L	868;851	ENSP00000383402:P868L;ENSP00000383401:P851L	.	P	-	2	0	PPP4R1	9539281	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.386000	0.97228	2.738000	0.93877	0.655000	0.94253	CCG	PPP4R1	-	superfamily_ARM-type_fold	ENSG00000154845		0.478	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	-	0	55	0	G	NM_005134		9549281	-1	tier1	-	no_errors	ENST00000400556	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	9549281	G	A	9549281	3	1	87	1	0	0	0	0	1	0	0	0	12445	1116	39	1	257	1	PPP4R1	18	9549281	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1479	9549281	68527967	1674	24798											
AFG3L2	10939	genome.wustl.edu	37	chr18	12329672	12329672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatccaagctgccagtGccttccacaaattcttcata	10	12	4	15	0	3	0	2	0	1	0	6	0	6	0	5	0	3	1	5	0	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:12329672G>A	ENST00000269143.3	-	17	2517	c.2286C>T	c.(2284-2286)ggC>ggT	p.G762G	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_3'UTR	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	762					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCTGCCAGTGCCTTCCACAA	0.458																																																	0													96	98	98					18																	12329672		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.2286C>T	18.37:g.12329672G>A			Q6P1L0	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.G762	ENST00000269143.3	37	c.2286	CCDS11859.1	18																																																																																			AFG3L2	-	NULL	ENSG00000141385		0.458	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0	58	0	G	NM_006796		12329672	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	silent	8.47	54	5	SNP	1.000	A	A	12329672	G	A	12329672	2	1	87	1	0	0	0	0	0	0	0	1	360	1306	46	3		3	AFG3L2	18	12329672	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2780391	12329672	65747576	1675	24799											
CEP76	79959	genome.wustl.edu	37	chr18	12699055	12699055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatggaacaggtttagaaCgaaaacgttggtttcgataa	15	10	10	6	3	0	1	0	0	0	1	1	4	0	2	0	3	3	3	0	3	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:12699055C>T	ENST00000262127.2	-	4	668	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CEP76_ENST00000586887.1_5'UTR|CEP76_ENST00000423709.2_Intron|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	148					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGTTTAGAACGAAAACGTTG	0.378																																																	0													89	82	84					18																	12699055		2203	4300	6503	SO:0001583	missense	0			BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"chromosome 18 open reading frame 9"	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.443G>A	18.37:g.12699055C>T	ENSP00000262127:p.Arg148His		B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	superfamily_C2_dom	p.R148H	ENST00000262127.2	37	c.443	CCDS11861.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.244518	0.95272	.	.	ENSG00000101624	ENST00000262127	T	0.80566	-1.39	5.83	5.83	0.93111	.	0.045898	0.85682	D	0.000000	D	0.86033	0.5836	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	P	0.51415	0.669	D	0.86609	0.1871	10	0.59425	D	0.04	-1.9037	20.1338	0.98010	0.0:1.0:0.0:0.0	.	148	Q8TAP6	CEP76_HUMAN	H	148	ENSP00000262127:R148H	ENSP00000262127:R148H	R	-	2	0	CEP76	12689055	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.070000	0.71220	2.770000	0.95276	0.655000	0.94253	CGT	CEP76	-	superfamily_C2_dom	ENSG00000101624		0.378	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP76	HGNC	protein_coding	OTTHUMT00000254611.1	-	0	73	0	C	NM_024899		12699055	-1	tier1	-	no_errors	ENST00000262127	ensembl	human	known	74_37	missense	12.50	62	9	SNP	1.000	T	T	12699055	C	T	12699055	3	4	87	1	0	0	0	0	1	0	0	0	3268	536	19	1	1572	1	CEP76	18	12699055	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	369383	12699055	65378193	1676	24800											
ROCK1	6093	genome.wustl.edu	37	chr18	18622641	18622641	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatataatcaggtgttccAaccgctgtatcacatcgtac	13	11	7	10	2	2	0	2	0	0	0	4	1	3	0	2	1	2	4	2	1	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:18622641A>G	ENST00000399799.2	-	7	1645	c.705T>C	c.(703-705)gtT>gtC	p.V235V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	235	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAGGTGTTCCAACCGCTGTAT	0.373																																																	0													105	96	99					18																	18622641		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"Pleckstrin homology (PH) domain containing"	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.705T>C	18.37:g.18622641A>G			B0YJ91|Q2KHM4|Q59GZ4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.V235	ENST00000399799.2	37	c.705	CCDS11870.2	18																																																																																			ROCK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Prot_kinase_dom	ENSG00000067900		0.373	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	-	0	84	0	A	NM_005406		18622641	-1	tier1	-	no_errors	ENST00000399799	ensembl	human	known	74_37	silent	18.06	59	13	SNP	1.000	G	G	18622641	A	G	18622641	2	3	87	1	0	0	0	0	0	0	0	1	13562	117	5	4		4	ROCK1	18	18622641	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	5923586	18622641	59454607	1677	24801											
RBBP8	5932	genome.wustl.edu	37	chr18	20606158	20606158	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtccaaaaagacgtcagccTtacaacgcaatattttctcc	13	10	5	13	3	2	1	1	0	1	1	4	1	3	1	3	0	3	1	3	0	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:20606158T>C	ENST00000399722.2	+	19	3000	c.2649T>C	c.(2647-2649)ccT>ccC	p.P883P	Y_RNA_ENST00000411091.1_RNA|RBBP8_ENST00000327155.5_Silent_p.P883P|RBBP8_ENST00000399725.2_Missense_Mutation_p.L851P|RBBP8_ENST00000360790.5_Silent_p.P888P|RBBP8_ENST00000581687.1_Silent_p.P61P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	883					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GACGTCAGCCTTACAACGCAA	0.358								Homologous recombination																																									0													121	107	112					18																	20606158		2203	4300	6503	SO:0001819	synonymous_variant	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"CTBP-interacting protein"	604124	"retinoblastoma-binding protein 8", "Seckel syndrome 2"	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2649T>C	18.37:g.20606158T>C			A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N	p.L851P	ENST00000399722.2	37	c.2552	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	T	9.416	1.081702	0.20309	.	.	ENSG00000101773	ENST00000399725;ENST00000399721	T	0.31510	1.49	5.75	3.31	0.37934	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.80722	D	1	B	0.29508	0.246	B	0.26094	0.066	T	0.05649	-1.0872	7	.	.	.	-5.1471	7.8719	0.29571	0.0:0.0713:0.1384:0.7903	.	851	A6NKN2	.	P	851	ENSP00000382630:L851P	.	L	+	2	0	RBBP8	18860156	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	1.505000	0.35736	0.426000	0.26116	0.533000	0.62120	CTT	RBBP8	-	NULL	ENSG00000101773		0.358	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	-	0	50	0	T	NM_203291		20606158	1	tier1	-	no_errors	ENST00000399725	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	C	C	20606158	T	C	20606158	2	2	87	1	0	0	0	0	0	0	0	1	13150	1609	56	4		4	RBBP8	18	20606158	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1983517	20606158	57471090	1678	24802											
ANKRD29	147463	genome.wustl.edu	37	chr18	21218906	21218906	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaagaatagggcagttgtAcctgactgggagagagggag	13	6	17	5	0	0	3	0	1	0	2	0	6	0	5	1	3	1	4	1	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:21218906A>G	ENST00000592179.1	-	4	391	c.237T>C	c.(235-237)ggT>ggC	p.G79G	ANKRD29_ENST00000322980.9_Silent_p.G79G|ANKRD29_ENST00000284207.7_Silent_p.G79G	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	79										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGGCAGTTGTACCTGACTGGG	0.403																																																	0													101	97	98					18																	21218906		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"Ankyrin repeat domain containing"	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.237T>C	18.37:g.21218906A>G			B2R972|Q6ZWE8|Q96LU9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G79	ENST00000592179.1	37	c.237	CCDS11879.1	18																																																																																			ANKRD29	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000154065		0.403	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD29	HGNC	protein_coding	OTTHUMT00000254825.1	-	0	61	0	A	NM_173505		21218906	-1	tier1	-	no_errors	ENST00000592179	ensembl	human	known	74_37	silent	12.68	62	9	SNP	0.999	G	G	21218906	A	G	21218906	2	3	87	1	0	0	0	0	0	0	0	1	657	378	14	4		4	ANKRD29	18	21218906	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	612748	21218906	56858342	1679	24803											
DSC3	1825	genome.wustl.edu	37	chr18	28605749	28605749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaacatcatattcttcacGatccacaggccgagtgcaaa	16	8	6	11	2	3	0	2	0	1	0	4	2	4	0	2	1	2	1	2	1	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:28605749G>A	ENST00000360428.4	-	5	687	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	DSC3_ENST00000434452.1_Missense_Mutation_p.R203C	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	203	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R203C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATTCTTCACGATCCACAGGC	0.338																																																	2	Substitution - Missense(2)	large_intestine(1)|skin(1)											74	75	74					18																	28605749		2203	4299	6502	SO:0001583	missense	0			X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"Cadherins / Major cadherins"	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.607C>T	18.37:g.28605749G>A	ENSP00000353608:p.Arg203Cys		A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.R203C	ENST00000360428.4	37	c.607	CCDS32810.1	18	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674758	0.88445	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.59772	0.24;0.24	5.2	5.2	0.72013	Cadherin (5);Cadherin-like (1);	0.000000	0.33712	N	0.004626	D	0.84982	0.5593	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89852	0.4010	10	0.87932	D	0	.	18.0367	0.89305	0.0:0.0:1.0:0.0	.	203;203	Q14574;Q14574-2	DSC3_HUMAN;.	C	203	ENSP00000353608:R203C;ENSP00000392068:R203C	ENSP00000353608:R203C	R	-	1	0	DSC3	26859747	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.479000	0.66813	2.854000	0.98071	0.655000	0.94253	CGT	DSC3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000134762		0.338	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	DSC3	HGNC	protein_coding	OTTHUMT00000447384.1	-	0	44	0	G	NM_001941, NM_024423		28605749	-1	tier1	-	no_errors	ENST00000360428	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	A	A	28605749	G	A	28605749	3	1	87	1	0	0	0	0	1	0	0	0	4781	1058	37	1	2162	1	DSC3	18	28605749	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7386843	28605749	49471499	1680	24804											
FAM59A	64762	genome.wustl.edu	37	chr18	29867973	29867973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattcatacaaatgaggcacGgcattttgccttttcccagc	10	12	8	11	1	1	1	1	1	0	0	2	2	2	1	2	2	3	2	2	2	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:29867973G>A	ENST00000269209.6	-	4	590	c.587C>T	c.(586-588)cCg>cTg	p.P196L	RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Missense_Mutation_p.P196L			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	196	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AATGAGGCACGGCATTTTGCC	0.453																																																	0													112	92	99					18																	29867973		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"Grb2-associated and regulator of Erk/MAPK"		"chromosome 18 open reading frame 11", "family with sequence similarity 59, member A"	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.587C>T	18.37:g.29867973G>A	ENSP00000269209:p.Pro196Leu		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.P196L	ENST00000269209.6	37	c.587	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513750	0.85389	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.19938	2.11;2.11	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51888	-0.8648	10	0.87932	D	0	-16.0239	20.1095	0.97908	0.0:0.0:1.0:0.0	.	196;196	Q9H706;Q9H706-3	FA59A_HUMAN;.	L	196	ENSP00000382165:P196L;ENSP00000269209:P196L	ENSP00000269209:P196L	P	-	2	0	FAM59A	28121971	1.000000	0.71417	0.970000	0.41538	0.970000	0.65996	9.357000	0.97099	2.831000	0.97527	0.655000	0.94253	CCG	GAREM	-	NULL	ENSG00000141441		0.453	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GAREM	HGNC	protein_coding	OTTHUMT00000255365.1	-	0	55	0	G	NM_022751		29867973	-1	tier1	-	no_errors	ENST00000269209	ensembl	human	known	74_37	missense	19.23	42	10	SNP	1.000	A	A	29867973	G	A	29867973	3	1	87	1	0	0	0	0	1	0	0	0	5614	1116	39	1	2052	1	FAM59A	18	29867973	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1262224	29867973	48209275	1681	24805											
SETBP1	26040	genome.wustl.edu	37	chr18	42532404	42532404	+	Frame_Shift_Del	DEL	T	T	-																															gacaccatgacaaaggtgccTtttttacaagggttcagcta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:42532404delT	ENST00000282030.5	+	4	3395	c.3099delT	c.(3097-3099)cctfs	p.P1033fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1033						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAAAGGTGCCTTTTTTACAAG	0.443									Schinzel-Giedion syndrome																																								0													83	71	75					18																	42532404		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3099delT	18.37:g.42532404delT	ENSP00000282030:p.Pro1033fs		A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Del	DEL	smart_AT_hook_DNA-bd_motif	p.L1035fs	ENST00000282030.5	37	c.3099	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.443	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4		0	69	0	T	NM_001130110		42532404	1	tier1		no_errors	ENST00000282030	ensembl	human	known	74_37	frame_shift_del	23.21	43	13	DEL	1.000	-	-	42532404	T	-	42532404	7	5	87	1	0	1	0	1	0	0	0	0	14174	1596	56	0	3302	0	SETBP1	18	42532404	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	12664431	42532404	35544844	1682	24806											
C18orf25	147339	genome.wustl.edu	37	chr18	43843065	43843065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggatgaggatagcaggcGtaaatacctactgtaataca	14	10	10	7	1	0	1	0	1	0	0	0	3	0	3	1	3	4	3	1	3	7	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:43843065G>A	ENST00000282059.6	+	5	1570	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	C18orf25_ENST00000321319.6_Missense_Mutation_p.R338H	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	399										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						GATAGCAGGCGTAAATACCTA	0.478																																																	0													58	59	59					18																	43843065		2023	4188	6211	SO:0001583	missense	0			AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"ARKadia-like 1"					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.1196G>A	18.37:g.43843065G>A	ENSP00000282059:p.Arg399His		A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Missense_Mutation	SNP	NULL	p.R399H	ENST00000282059.6	37	c.1196	CCDS42430.1	18	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719938	0.30503	.	.	ENSG00000152242	ENST00000282059;ENST00000321319	.	.	.	5.31	5.31	0.75309	.	0.056270	0.64402	D	0.000001	T	0.55465	0.1922	L	0.38531	1.155	0.53005	D	0.999969	B;B	0.28512	0.059;0.214	B;B	0.27715	0.008;0.082	T	0.52313	-0.8592	9	0.36615	T	0.2	-6.4947	18.9981	0.92821	0.0:0.0:1.0:0.0	.	338;399	Q96B23-2;Q96B23	.;CR025_HUMAN	H	399;338	.	ENSP00000282059:R399H	R	+	2	0	C18orf25	42097063	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.991000	0.63883	2.476000	0.83614	0.563000	0.77884	CGT	C18orf25	-	NULL	ENSG00000152242		0.478	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf25	HGNC	protein_coding	OTTHUMT00000445242.1		0	49	0	G	NM_145055		43843065	1			no_errors	ENST00000282059	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	43843065	G	A	43843065	3	1	87	1	0	0	0	0	1	0	0	0	1906	1145	40	1	1210	1	C18orf25	18	43843065	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1310661	43843065	34234183	1683	24807											
DYM	54808	genome.wustl.edu	37	chr18	46690133	46690133	+	Frame_Shift_Del	DEL	T	T	-																															tgttccagaactttgttgtgTtttttagacagcaaagaaaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:46690133delT	ENST00000269445.6	-	14	1942	c.1485delA	c.(1483-1485)aaafs	p.K495fs	DYM_ENST00000442713.2_Frame_Shift_Del_p.K305fs	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	495					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CTTTGTTGTGTTTTTTAGACA	0.333																																																	0													83	72	76					18																	46690133		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1485delA	18.37:g.46690133delT	ENSP00000269445:p.Lys495fs		A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Frame_Shift_Del	DEL	pfam_Dymeclin,superfamily_ARM-type_fold	p.K495fs	ENST00000269445.6	37	c.1485	CCDS11937.1	18																																																																																			DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold	ENSG00000141627		0.333	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3		0	48	0	T	NM_017653		46690133	-1	tier1		no_errors	ENST00000269445	ensembl	human	known	74_37	frame_shift_del	10.64	42	5	DEL	0.906	-	-	46690133	T	-	46690133	7	5	87	1	0	1	0	1	0	0	0	0	4854	1722	60	0	540	0	DYM	18	46690133	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2847068	46690133	31387115	1684	24808											
ACAA2	10449	genome.wustl.edu	37	chr18	47329181	47329182	+	Frame_Shift_Ins	INS	-	-	A																															gtctttcagaaggcctccgtINSaagctccaaagggcgttcgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:47329181_47329182insA	ENST00000285093.10	-	2	533_534	c.58_59insT	c.(58-60)tacfs	p.Y20fs	ACAA2_ENST00000587994.1_Frame_Shift_Ins_p.Y17fs|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	20					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(7)|ovary(1)	10						AAGGCCTCCGTAAGCTCCAAAG	0.455																																																	0																																										SO:0001589	frameshift_variant	0			D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"mitochondrial 3-oxoacyl-Coenzyme A thiolase"	604770	"acetyl-Coenzyme A acyltransferase 2"			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.59dupT	18.37:g.47329183_47329183dupA	ENSP00000285093:p.Tyr20fs		Q9BUT6	Frame_Shift_Ins	INS	pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	p.Y20fs	ENST00000285093.10	37	c.59_58	CCDS11939.1	18																																																																																			ACAA2	-	pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase	ENSG00000167315		0.455	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACAA2	HGNC	protein_coding	OTTHUMT00000255921.2		0	51	0	-	NM_006111		47329182	-1	tier1		no_errors	ENST00000285093	ensembl	human	known	74_37	frame_shift_ins	30.00	21	9	INS	0.687:0.766	A	A	47329182	-	A	47329181	7	5	87	1	0	1	1	0	0	0	0	0	105	1638	57	0	1170	0	ACAA2	18	47329181	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	639048	47329181	30748067	1685	24809											
MYO5B	4645	genome.wustl.edu	37	chr18	47500881	47500881	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggacatggtcttgacgtaGgtctccgaggtggtgaccag	8	9	16	8	2	2	2	0	2	2	0	3	4	2	3	2	5	0	1	2	5	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:47500881G>T	ENST00000285039.7	-	10	1460	c.1161C>A	c.(1159-1161)acC>acA	p.T387T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	387	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCTTGACGTAGGTCTCCGAGG	0.562																																																	0													170	175	173					18																	47500881		2178	4274	6452	SO:0001819	synonymous_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1161C>A	18.37:g.47500881G>T			B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T387	ENST00000285039.7	37	c.1161	CCDS42436.1	18																																																																																			MYO5B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000167306		0.562	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2		0	34	0	G			47500881	-1			no_errors	ENST00000285039	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	T	T	47500881	G	T	47500881	2	4	87	1	0	0	0	0	0	0	0	1	10117	987	35	3		3	MYO5B	18	47500881	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	171700	47500881	30576367	1686	24810											
ME2	4200	genome.wustl.edu	37	chr18	48450472	48450472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatctcaaaatttagggacGgaaagcaaaaatagatagtt	18	11	8	4	1	1	1	1	0	1	1	2	3	1	3	0	2	1	2	0	2	9	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:48450472G>A	ENST00000321341.5	+	11	1333	c.1061G>A	c.(1060-1062)cGg>cAg	p.R354Q	ME2_ENST00000382927.3_Missense_Mutation_p.R354Q	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	354					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ATTTAGGGACGGAAAGCAAAA	0.318																																																	0													90	90	90					18																	48450472		2203	4300	6503	SO:0001583	missense	0			M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1061G>A	18.37:g.48450472G>A	ENSP00000321070:p.Arg354Gln		B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase	p.R354Q	ENST00000321341.5	37	c.1061	CCDS11948.1	18	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628323	0.67015	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.34472	1.36;1.36	5.56	5.56	0.83823	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.100219	0.64402	D	0.000003	T	0.63710	0.2534	M	0.83483	2.645	0.50171	D	0.999852	D;D	0.89917	0.999;1.0	D;D	0.69824	0.946;0.966	T	0.67511	-0.5652	10	0.72032	D	0.01	-11.8655	16.8161	0.85734	0.0:0.0:1.0:0.0	.	354;354	Q9BWL6;P23368	.;MAOM_HUMAN	Q	354	ENSP00000321070:R354Q;ENSP00000372384:R354Q	ENSP00000321070:R354Q	R	+	2	0	ME2	46704470	1.000000	0.71417	0.599000	0.28851	0.164000	0.22412	6.857000	0.75455	2.781000	0.95711	0.650000	0.86243	CGG	ME2	-	pfam_Malic_NAD-bd,smart_Malic_NAD-bd	ENSG00000082212		0.318	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ME2	HGNC	protein_coding	OTTHUMT00000255991.1	-	0	39	0	G	NM_002396		48450472	1	tier1	-	no_errors	ENST00000321341	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.689	A	A	48450472	G	A	48450472	3	1	87	1	0	0	0	0	1	0	0	0	9456	1116	39	1	1099	1	ME2	18	48450472	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	949591	48450472	29626776	1687	24811											
MBD2	8932	genome.wustl.edu	37	chr18	51750459	51750459	+	Frame_Shift_Del	DEL	G	G	-																															acttcctccttcttccatccGggggggagggccgggcaatc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:51750459delG	ENST00000256429.3	-	1	699	c.471delC	c.(469-471)cccfs	p.P157fs	MBD2_ENST00000398398.2_Frame_Shift_Del_p.P157fs|MBD2_ENST00000583046.1_Frame_Shift_Del_p.P157fs|SNORA37_ENST00000384504.1_RNA	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	157	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		TCTTCCATCCGGGGGGGAGGG	0.687																																																	0													22	22	22					18																	51750459		2201	4298	6499	SO:0001589	frameshift_variant	0			AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.471delC	18.37:g.51750459delG	ENSP00000256429:p.Pro157fs		O95242|Q9UIS8	Frame_Shift_Del	DEL	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.G158fs	ENST00000256429.3	37	c.471	CCDS11953.1	18																																																																																			MBD2	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000134046		0.687	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD2	HGNC	protein_coding	OTTHUMT00000256003.2		0	63	0	G	NM_003927		51750459	-1	tier1		no_errors	ENST00000256429	ensembl	human	known	74_37	frame_shift_del	14.81	46	8	DEL	1.000	-	-	51750459	G	-	51750459	7	5	87	1	0	1	0	1	0	0	0	0	9381	1103	39	0	999	0	MBD2	18	51750459	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	3299987	51750459	26326789	1688	24812											
LMAN1	3998	genome.wustl.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-																															tttctttatctggtgtgggcTtttttttggagttttggaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294																																																	0													75	83	80					18																	57013285		2202	4298	6500	SO:0001630	splice_region_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.823-2A>-	18.37:g.57013285delT			Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	DEL	-	e8-2	ENST00000251047.5	37	c.823-2	CCDS11974.1	18																																																																																			LMAN1	-	-	ENSG00000074695		0.294	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0	54	0	T	NM_005570	Intron	57013285	-1	tier1		no_errors	ENST00000251047	ensembl	human	known	74_37	splice_site_del	26.67	33	12	DEL	1.000	-	-	57013285	T	-	57013285	8	5	87	1	0	1	0	1	0	0	1	0	8866	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	5262826	57013285	21063963	1689	24813											
LMAN1	3998	genome.wustl.edu	37	chr18	57026329	57026329	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcggccccttgaagctgtAtttgtactcgaaacggcgat	8	11	12	10	4	0	1	0	1	0	0	1	3	0	1	2	2	4	3	2	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:57026329A>T	ENST00000251047.5	-	1	865	c.148T>A	c.(148-150)Tac>Aac	p.Y50N	RP11-27G24.1_ENST00000591331.1_lincRNA	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	50	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TTGAAGCTGTATTTGTACTCG	0.687																																																	0													66	71	70					18																	57026329		2203	4300	6503	SO:0001583	missense	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"endoplasmic reticulum-golgi intermediate compartment protein 53"	601567	"coagulation factor V-factor VIII combined deficiency"	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.148T>A	18.37:g.57026329A>T	ENSP00000251047:p.Tyr50Asn		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom	p.Y50N	ENST00000251047.5	37	c.148	CCDS11974.1	18	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279471	0.80692	.	.	ENSG00000074695	ENST00000251047	T	0.64085	-0.08	3.83	3.83	0.44106	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.080740	0.52532	D	0.000078	T	0.74749	0.3757	M	0.80422	2.495	0.80722	D	1	D;P	0.52996	0.957;0.697	P;P	0.57244	0.816;0.465	T	0.78804	-0.2060	10	0.59425	D	0.04	-5.4808	12.7359	0.57222	1.0:0.0:0.0:0.0	.	50;50	B4DVV0;P49257	.;LMAN1_HUMAN	N	50	ENSP00000251047:Y50N	ENSP00000251047:Y50N	Y	-	1	0	LMAN1	55177309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.173000	0.89680	1.732000	0.51606	0.459000	0.35465	TAC	LMAN1	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	ENSG00000074695		0.687	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2	-	0	128	0	A	NM_005570		57026329	-1	tier1	-	no_errors	ENST00000251047	ensembl	human	known	74_37	missense	7.53	86	7	SNP	1.000	T	T	57026329	A	T	57026329	3	4	87	1	0	0	0	0	1	0	0	0	8866	449	16	5	1436	5	LMAN1	18	57026329	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	13044	57026329	21050919	1690	24814											
BCL2	596	genome.wustl.edu	37	chr18	60985684	60985684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggggcagccggggtctgCagcggcgaggtcctggcgac	4	4	20	13	5	1	0	0	0	1	0	2	2	2	0	3	7	3	2	3	7	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:60985684C>T	ENST00000398117.1	-	1	1677	c.216G>A	c.(214-216)ctG>ctA	p.L72L	BCL2_ENST00000589955.1_Silent_p.L72L|BCL2_ENST00000444484.1_Silent_p.L72L|BCL2_ENST00000333681.4_Silent_p.L72L	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	72					actin filament organization (GO:0007015)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|axonogenesis (GO:0007409)|B cell homeostasis (GO:0001782)|B cell lineage commitment (GO:0002326)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|behavioral fear response (GO:0001662)|branching involved in ureteric bud morphogenesis (GO:0001658)|CD8-positive, alpha-beta T cell lineage commitment (GO:0043375)|cell aging (GO:0007569)|cell growth (GO:0016049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to organic substance (GO:0071310)|cochlear nucleus development (GO:0021747)|defense response to virus (GO:0051607)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|ear development (GO:0043583)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|female pregnancy (GO:0007565)|focal adhesion assembly (GO:0048041)|gland morphogenesis (GO:0022612)|glomerulus development (GO:0032835)|hair follicle morphogenesis (GO:0031069)|homeostasis of number of cells within a tissue (GO:0048873)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|melanin metabolic process (GO:0006582)|melanocyte differentiation (GO:0030318)|mesenchymal cell development (GO:0014031)|metanephros development (GO:0001656)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of autophagy (GO:0010507)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cellular pH reduction (GO:0032848)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of retinal cell programmed cell death (GO:0046671)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|oocyte development (GO:0048599)|organ growth (GO:0035265)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pigment granule organization (GO:0048753)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell growth (GO:0030307)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron maturation (GO:0014042)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smooth muscle cell migration (GO:0014911)|post-embryonic development (GO:0009791)|protein dephosphorylation (GO:0006470)|protein polyubiquitination (GO:0000209)|reactive oxygen species metabolic process (GO:0072593)|regulation of calcium ion transport (GO:0051924)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glycoprotein biosynthetic process (GO:0010559)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|regulation of protein stability (GO:0031647)|regulation of transmembrane transporter activity (GO:0022898)|regulation of viral genome replication (GO:0045069)|release of cytochrome c from mitochondria (GO:0001836)|renal system process (GO:0003014)|response to acid chemical (GO:0001101)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to iron ion (GO:0010039)|response to ischemia (GO:0002931)|response to nicotine (GO:0035094)|response to radiation (GO:0009314)|response to toxic substance (GO:0009636)|response to UV-B (GO:0010224)|single organismal cell-cell adhesion (GO:0016337)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|channel inhibitor activity (GO:0016248)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin protein ligase binding (GO:0031625)	p.L72L(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Ibuprofen(DB01050)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ccggggTCTGCAGCGGCGAGG	0.791			T	IGH@	"NHL, CLL"																																			Dom	yes		18	18q21.3	596	B-cell CLL/lymphoma 2		L	2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)											5	8	7					18																	60985684		1603	3485	5088	SO:0001819	synonymous_variant	0			M14745	CCDS11981.1, CCDS45882.1	18q21.3	2014-03-07			ENSG00000171791	ENSG00000171791		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	990	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 50"	151430					Standard	XM_006722523		Approved	Bcl-2, PPP1R50	uc002lit.1	P10415	OTTHUMG00000132791	ENST00000398117.1:c.216G>A	18.37:g.60985684C>T			C9JHD5|P10416|Q13842|Q16197	Silent	SNP	pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX	p.L72	ENST00000398117.1	37	c.216	CCDS11981.1	18																																																																																			BCL2	-	tigrfam_Bcl2/BclX	ENSG00000171791		0.791	BCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2	HGNC	protein_coding	OTTHUMT00000256199.1	-	0	25	0	C	NM_000633, NM_000657		60985684	-1	tier1	-	no_errors	ENST00000333681	ensembl	human	known	74_37	silent	43.75	9	7	SNP	0.017	T	T	60985684	C	T	60985684	2	4	87	1	0	0	0	0	0	0	0	1	1366	697	25	3		3	BCL2	18	60985684	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3959355	60985684	17091564	1691	24815											
RTTN	25914	genome.wustl.edu	37	chr18	67759942	67759942	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgggccatcatctcatgGgataagtgaagcaagcaaag	13	7	12	9	0	2	1	2	1	1	0	3	2	2	2	2	2	2	2	2	2	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:67759942G>T	ENST00000255674.6	-	29	4288	c.4002C>A	c.(4000-4002)tcC>tcA	p.S1334S	RTTN_ENST00000437017.1_Silent_p.S1334S|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1334					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCATCTCATGGGATAAGTGAA	0.443																																																	0													104	105	104					18																	67759942		2009	4161	6170	SO:0001819	synonymous_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4002C>A	18.37:g.67759942G>T			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.S1334	ENST00000255674.6	37	c.4002	CCDS42443.1	18																																																																																			RTTN	-	NULL	ENSG00000176225		0.443	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	-	0	51	0	G	NM_173630		67759942	-1	tier1	-	no_errors	ENST00000255674	ensembl	human	known	74_37	silent	15.38	44	8	SNP	0.885	T	T	67759942	G	T	67759942	2	4	87	1	0	0	0	0	0	0	0	1	13782	1219	43	3		3	RTTN	18	67759942	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6774258	67759942	10317306	1692	24816											
RTTN	25914	genome.wustl.edu	37	chr18	67863751	67863751	+	Frame_Shift_Del	DEL	A	A	-																															aaataccgtgtttattggagAaaaaacctggatctcggtga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:67863751delA	ENST00000255674.6	-	7	1113	c.827delT	c.(826-828)ttcfs	p.F276fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.F276fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F276fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	276					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTTATTGGAGAAAAAACCTGG	0.403																																																	0													78	76	77					18																	67863751		1869	4099	5968	SO:0001589	frameshift_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.827delT	18.37:g.67863751delA	ENSP00000255674:p.Phe276fs		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.F276fs	ENST00000255674.6	37	c.827	CCDS42443.1	18																																																																																			RTTN	-	superfamily_ARM-type_fold	ENSG00000176225		0.403	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1		0	89	0	A	NM_173630		67863751	-1	tier1		no_errors	ENST00000255674	ensembl	human	known	74_37	frame_shift_del	11.11	64	8	DEL	1.000	-	-	67863751	A	-	67863751	7	5	87	1	0	1	0	1	0	0	0	0	13782	246	9	0	6025	0	RTTN	18	67863751	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	103809	67863751	10213497	1693	24817											
ZNF407	55628	genome.wustl.edu	37	chr18	72589289	72589289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcattcctcacagcctccGcaatgaaagaccactacagg	13	7	6	15	1	2	2	2	1	0	1	4	2	4	2	4	1	2	1	4	1	3	2	rs369381731		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:72589289G>A	ENST00000299687.5	+	4	5014	c.5014G>A	c.(5014-5016)Gca>Aca	p.A1672T	ZNF407_ENST00000577538.1_Missense_Mutation_p.A1672T|ZNF407_ENST00000584235.1_3'UTR	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1672					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A1672S(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CACAGCCTCCGCAATGAAAGA	0.567																																																	1	Substitution - Missense(1)	prostate(1)						G	THR/ALA,THR/ALA	1,3927		0,1,1963	98	99	99		5014,5014	5.9	1	18		99	0,8308		0,0,4154	no	missense,missense	ZNF407	NM_001146189.1,NM_017757.2	58,58	0,1,6117	AA,AG,GG		0.0,0.0255,0.0082	probably-damaging,probably-damaging	1672/1816,1672/2249	72589289	1,12235	1964	4154	6118	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5014G>A	18.37:g.72589289G>A	ENSP00000299687:p.Ala1672Thr		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.A1672T	ENST00000299687.5	37	c.5014	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	27.1	4.795930	0.90453	2.55E-4	0.0	ENSG00000215421	ENST00000299687	T	0.15139	2.45	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000015	T	0.29976	0.0750	N	0.25825	0.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01570	-1.1322	10	0.22109	T	0.4	.	18.5139	0.90928	0.0:0.0:1.0:0.0	.	1672;1672	Q9C0G0-2;Q9C0G0	.;ZN407_HUMAN	T	1672	ENSP00000299687:A1672T	ENSP00000299687:A1672T	A	+	1	0	ZNF407	70718277	1.000000	0.71417	0.960000	0.40013	0.909000	0.53808	9.447000	0.97595	2.818000	0.97014	0.591000	0.81541	GCA	ZNF407	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000215421		0.567	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0	34	0	G	NM_017757		72589289	1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	missense	42.50	23	17	SNP	1.000	A	A	72589289	G	A	72589289	3	1	87	1	0	0	0	0	1	0	0	0	17935	1087	38	1	5138	1	ZNF407	18	72589289	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4725538	72589289	5487959	1694	24818											
ZNF407	55628	genome.wustl.edu	37	chr18	72632566	72632566	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtgtgactacgggacCaacgtcccggtggagttccg	8	7	13	13	4	0	1	0	1	0	0	2	3	2	3	4	3	2	1	4	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:72632566C>A	ENST00000299687.5	+	7	5346	c.5346C>A	c.(5344-5346)acC>acA	p.T1782T	ZNF407_ENST00000577538.1_Silent_p.T1782T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1782					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ACTACGGGACCAACGTCCCGG	0.493																																																	0													81	81	81					18																	72632566		1983	4172	6155	SO:0001819	synonymous_variant	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"Zinc fingers, C2H2-type"	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5346C>A	18.37:g.72632566C>A			B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.T1782	ENST00000299687.5	37	c.5346	CCDS45885.1	18																																																																																			ZNF407	-	smart_Znf_C2H2-like	ENSG00000215421		0.493	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	-	0	44	0	C	NM_017757		72632566	1	tier1	-	no_errors	ENST00000299687	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	A	A	72632566	C	A	72632566	2	1	87	1	0	0	0	0	0	0	0	1	17935	581	21	3		3	ZNF407	18	72632566	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	43277	72632566	5444682	1695	24819											
ZNF236	7776	genome.wustl.edu	37	chr18	74583780	74583780	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacattaggatacacacAggtatgaaaacactgacttc	16	8	7	10	1	0	2	0	2	0	0	1	4	0	3	0	2	2	1	0	2	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr18:74583780A>C	ENST00000253159.8	+	5	858	c.660A>C	c.(658-660)acA>acC	p.T220T	ZNF236_ENST00000583095.1_Intron|ZNF236_ENST00000320610.9_Splice_Site_p.T222T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	220					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATACACACAGGTATGAAAA	0.478																																																	0													112	102	105					18																	74583780		2041	4193	6234	SO:0001630	splice_region_variant	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.661+1A>C	18.37:g.74583780A>C			B2RTX9|Q9UL37	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T220	ENST00000253159.8	37	c.660	CCDS42447.1	18																																																																																			ZNF236	-	pfscan_Znf_C2H2	ENSG00000130856		0.478	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1		0	38	0	A		Silent	74583780	1			no_errors	ENST00000253159	ensembl	human	known	74_37	silent	13.51	32	5	SNP	1.000	C	C	74583780	A	C	74583780	5	2	87	1	0	0	0	0	0	0	1	0	17837	202	7	4	678	4	ZNF236	18	74583780	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1951214	74583780	3493468	1696	24820											
MIER2	54531	genome.wustl.edu	37	chr19	308584	308584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagcctcacctgtgcgCatcccagtcagggtgtcttg	6	9	10	16	1	3	0	2	0	1	0	4	0	4	0	5	1	2	1	5	1	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:308584C>T	ENST00000264819.4	-	12	1201	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTGTGCGCATCCCAGTCA	0.721																																																	0													21	30	27					19																	308584		2195	4293	6488	SO:0001583	missense	0			AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"KIAA1193"	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1191G>A	19.37:g.308584C>T	ENSP00000264819:p.Met397Ile		Q9ULM7	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.M397I	ENST00000264819.4	37	c.1191	CCDS32855.1	19	.	.	.	.	.	.	.	.	.	.	C	7.555	0.663595	0.14710	.	.	ENSG00000105556	ENST00000264819	T	0.13307	2.6	2.59	-0.891	0.10573	.	4.846750	0.00496	N	0.000141	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.29518	-1.0009	10	0.35671	T	0.21	.	5.2221	0.15373	0.0:0.5516:0.0:0.4484	.	397	Q8N344	MIER2_HUMAN	I	397	ENSP00000264819:M397I	ENSP00000264819:M397I	M	-	3	0	MIER2	259584	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.342000	0.07801	-0.107000	0.12088	0.462000	0.41574	ATG	MIER2	-	NULL	ENSG00000105556		0.721	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER2	HGNC	protein_coding	OTTHUMT00000451784.1	-	0	98	0	C	XM_041843		308584	-1	tier1	-	no_errors	ENST00000264819	ensembl	human	known	74_37	missense	13.98	80	13	SNP	0.001	T	T	308584	C	T	308584	3	4	87	1	0	0	0	0	1	0	0	0	9619	710	25	3	458	3	MIER2	19	308584	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09		308584	58820399	1697	24821											
BSG	682	genome.wustl.edu	37	chr19	581348	581348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgagagcaggttcttcGtgagttcctcgcagggccgg	5	9	15	12	4	1	2	0	1	1	1	5	3	3	2	3	3	1	5	3	3	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:581348G>A	ENST00000333511.3	+	6	896	c.826G>A	c.(826-828)Gtg>Atg	p.V276M	BSG_ENST00000353555.4_Missense_Mutation_p.V160M|BSG_ENST00000346916.4_Missense_Mutation_p.V96M|BSG_ENST00000545507.2_Missense_Mutation_p.V67M	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	276	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGTTCTTCGTGAGTTCCTC	0.637																																																	0													61	64	63					19																	581348		2203	4300	6503	SO:0001583	missense	0			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1116	protein-coding gene	gene with protein product	"Ok blood group"	109480	"basigin"	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.826G>A	19.37:g.581348G>A	ENSP00000333769:p.Val276Met		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V276M	ENST00000333511.3	37	c.826	CCDS12033.1	19	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256818	0.59321	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.70164	-0.46;-0.46;-0.46	3.6	0.181	0.15073	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.136425	0.45867	D	0.000338	T	0.73353	0.3576	M	0.66506	2.035	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.76575	0.98;0.96;0.988;0.96;0.744	T	0.60727	-0.7206	10	0.51188	T	0.08	-27.1726	5.6781	0.17759	0.5575:0.0:0.4425:0.0	.	160;276;160;276;96	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	M	96;67;276;160	ENSP00000344707:V96M;ENSP00000333769:V276M;ENSP00000343809:V160M	ENSP00000333769:V276M	V	+	1	0	BSG	532348	0.904000	0.30761	0.002000	0.10522	0.042000	0.13812	3.031000	0.49728	0.311000	0.23014	0.462000	0.41574	GTG	BSG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000172270		0.637	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	-	0	77	0	G	NM_001728		581348	1	tier1	-	no_errors	ENST00000333511	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.042	A	A	581348	G	A	581348	3	1	87	1	0	0	0	0	1	0	0	0	1533	1145	40	1	884	1	BSG	19	581348	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	272764	581348	58547635	1698	24822											
POLRMT	5442	genome.wustl.edu	37	chr19	621241	621241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcagggcccgcgccacGtcgctgcccaggtggttgaa	6	6	14	15	4	0	1	0	1	0	0	2	1	1	1	4	3	2	3	4	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:621241G>A	ENST00000588649.2	-	10	2541	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	819	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCGCCACGTCGCTGCCCA	0.697																																																	0													10	14	13					19																	621241		2167	4243	6410	SO:0001819	synonymous_variant	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2457C>T	19.37:g.621241G>A			O60370	Silent	SNP	pfam_DNA-dir_Rpol_phage-type	p.D819	ENST00000588649.2	37	c.2457	CCDS12036.1	19																																																																																			POLRMT	-	NULL	ENSG00000099821		0.697	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	-	0	68	0	G	NM_005035		621241	-1	tier1	-	no_errors	ENST00000588649	ensembl	human	known	74_37	silent	9.52	57	6	SNP	1.000	A	A	621241	G	A	621241	2	1	87	1	0	0	0	0	0	0	0	1	12277	1136	40	1		1	POLRMT	19	621241	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	39893	621241	58507742	1699	24823											
HMHA1	23526	genome.wustl.edu	37	chr19	1073742	1073742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcctcctggggactcgagCcaggtgagtggggtgggcca	5	7	19	10	1	0	1	0	1	0	0	2	3	1	2	4	6	2	0	4	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:1073742C>T	ENST00000313093.2	+	5	951	c.720C>T	c.(718-720)agC>agT	p.S240S	HMHA1_ENST00000586866.1_Silent_p.S244S|HMHA1_ENST00000536472.1_Silent_p.S80S|HMHA1_ENST00000590214.1_Silent_p.S267S|HMHA1_ENST00000543365.1_Silent_p.S123S|HMHA1_ENST00000539243.2_Silent_p.S256S	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	240					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACTCGAGCCAGGTGAGTG	0.652																																																	0													30	30	30					19																	1073742		2197	4298	6495	SO:0001819	synonymous_variant	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"Rho GTPase activating proteins"	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.720C>T	19.37:g.1073742C>T			B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S240	ENST00000313093.2	37	c.720	CCDS32863.1	19																																																																																			HMHA1	-	NULL	ENSG00000180448		0.652	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	-	0	87	0	C			1073742	1	tier1	-	no_errors	ENST00000313093	ensembl	human	known	74_37	silent	29.89	61	26	SNP	1.000	T	T	1073742	C	T	1073742	2	4	87	1	0	0	0	0	0	0	0	1	7267	738	26	3		3	HMHA1	19	1073742	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	452501	1073742	58055241	1700	24824											
STK11	6794	genome.wustl.edu	37	chr19	1221309	1221310	+	Frame_Shift_Del	DEL	TG	TG	-																															gctacgccatcccgggcgacTgtggccccccgctctctgac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:1221309_1221310delTG	ENST00000326873.7	+	6	2005_2006	c.832_833delTG	c.(832-834)tgtfs	p.C278fs		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(2)|p.Y246fs*3(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGGCGACTGTGGCCCCCCG	0.604		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"E, M, O"	23	Whole gene deletion(20)|Unknown(2)|Deletion - Frameshift(1)	cervix(14)|lung(5)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"polarization-related protein LKB1"	602216	"serine/threonine kinase 11 (Peutz-Jeghers syndrome)"			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.832_833delTG	19.37:g.1221311_1221312delTG	ENSP00000324856:p.Cys278fs		B2RBX7|E7EW76	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C278fs	ENST00000326873.7	37	c.832_833	CCDS45896.1	19																																																																																			STK11	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000118046		0.604	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3		0	74	0	TG	NM_000455		1221310	1			no_errors	ENST00000326873	ensembl	human	known	74_37	frame_shift_del	8.70	63	6	DEL	1.000:1.000	0	-	1221310	TG	-	1221309	7	5	87	1	0	1	0	1	0	0	0	0	15334	1580	55	0	854	0	STK11	19	1221309	Frame_Shift_Del	DEL	TG	TCGA-L5-A8NM-01A-11D-A37C-09	147567	1221309	57907674	1701	24825											
ATP8B3	148229	genome.wustl.edu	37	chr19	1795906	1795906	+	Frame_Shift_Del	DEL	C	C	-																															ctctgtggcaaattccattgCccccctcctgtgcaagcgtt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:1795906delC	ENST00000310127.6	-	18	2261	c.2023delG	c.(2023-2025)gcafs	p.A675fs	ATP8B3_ENST00000525591.1_Frame_Shift_Del_p.A628fs|ATP8B3_ENST00000539485.1_Frame_Shift_Del_p.A675fs	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	675					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATTCCATTGCCCCCCTCCTG	0.582											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													79	85	83					19																	1795906		2019	4172	6191	SO:0001589	frameshift_variant	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2023delG	19.37:g.1795906delC	ENSP00000311336:p.Ala675fs	598	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A675fs	ENST00000310127.6	37	c.2023	CCDS45901.1	19																																																																																			ATP8B3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.582	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1		0	29	0	C	NM_138813		1795906	-1	tier1		no_errors	ENST00000539485	ensembl	human	known	74_37	frame_shift_del	15.62	27	5	DEL	0.000	-	-	1795906	C	-	1795906	7	5	87	1	0	1	0	1	0	0	0	0	1197	739	26	0	1957	0	ATP8B3	19	1795906	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	574597	1795906	57333077	1702	24826											
TMPRSS9	360200	genome.wustl.edu	37	chr19	2405411	2405411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggatggccggcaggaTcgtgggcggcatggaagcat	8	6	19	8	3	0	0	0	0	0	0	1	4	0	4	1	8	1	3	1	8	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:2405411T>C	ENST00000332578.3	+	6	608	c.608T>C	c.(607-609)aTc>aCc	p.I203T		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	203	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.	Cleavage. {ECO:0000255}.			plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGCAGGATCGTGGGCGGC	0.637																																																	0													79	77	78					19																	2405411		2203	4300	6503	SO:0001583	missense	0			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"Serine peptidases / Transmembrane"	30079	protein-coding gene	gene with protein product	"polyserase 1"	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.608T>C	19.37:g.2405411T>C	ENSP00000330264:p.Ile203Thr		Q6ZND6|Q7Z411	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.I203T	ENST00000332578.3	37	c.608	CCDS12088.1	19	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780203	0.49891	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.67523	-0.27	4.43	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48767	D	0.000166	D	0.86083	0.5848	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.89824	0.3991	10	0.87932	D	0	.	12.7846	0.57498	0.0:0.0:0.0:1.0	.	203;237	Q7Z410;E7EMP4	TMPS9_HUMAN;.	T	237;203	ENSP00000330264:I203T	ENSP00000330264:I203T	I	+	2	0	TMPRSS9	2356411	1.000000	0.71417	0.995000	0.50966	0.015000	0.08874	7.719000	0.84751	1.776000	0.52262	0.397000	0.26171	ATC	TMPRSS9	-	pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178297		0.637	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS9	HGNC	protein_coding	OTTHUMT00000451330.3	-	0	66	0	T	NM_182973		2405411	1	tier1	-	no_errors	ENST00000332578	ensembl	human	known	74_37	missense	22.45	38	11	SNP	0.999	C	C	2405411	T	C	2405411	3	2	87	1	0	0	0	0	1	0	0	0	16300	1435	50	4	630	4	TMPRSS9	19	2405411	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	609505	2405411	56723572	1703	24827											
SLC39A3	29985	genome.wustl.edu	37	chr19	2737237	2737237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatgcacaggattttggCcactagcaatttcaccatgg	11	10	8	12	0	1	0	1	0	0	0	1	1	1	1	3	3	2	2	3	3	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:2737237C>T	ENST00000269740.4	-	2	348	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SLC39A3_ENST00000455372.2_Missense_Mutation_p.A7T|SLC39A3_ENST00000590875.1_5'Flank|AC006538.4_ENST00000586572.1_Missense_Mutation_p.A7T|SLC39A3_ENST00000545664.1_Missense_Mutation_p.A7T	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	7					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGATTTTGGCCACTAGCAAT	0.577																																																	0													82	78	79					19																	2737237		2203	4300	6503	SO:0001583	missense	0			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"Solute carriers"	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.19G>A	19.37:g.2737237C>T	ENSP00000269740:p.Ala7Thr		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	pfam_ZIP	p.A7T	ENST00000269740.4	37	c.19	CCDS12093.1	19	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199701	0.79015	.	.	ENSG00000141873	ENST00000545664;ENST00000269740;ENST00000455372	T;T;T	0.50277	0.75;0.75;0.75	5.12	4.09	0.47781	.	0.059130	0.64402	D	0.000003	T	0.49389	0.1554	M	0.73962	2.25	0.45318	D	0.998316	D;P;P	0.55800	0.973;0.925;0.645	B;B;P	0.44477	0.44;0.439;0.451	T	0.54159	-0.8335	10	0.40728	T	0.16	-0.1492	11.7684	0.51943	0.0:0.913:0.0:0.087	.	7;7;7	F5H385;Q9BRY0-2;Q9BRY0	.;.;S39A3_HUMAN	T	7	ENSP00000445345:A7T;ENSP00000269740:A7T;ENSP00000393715:A7T	ENSP00000269740:A7T	A	-	1	0	SLC39A3	2688237	1.000000	0.71417	0.940000	0.37924	0.836000	0.47400	3.221000	0.51215	2.374000	0.81015	0.561000	0.74099	GCC	SLC39A3	-	pfam_ZIP	ENSG00000141873		0.577	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A3	HGNC	protein_coding	OTTHUMT00000451354.2	-	0	59	0	C			2737237	-1	tier1	-	no_errors	ENST00000269740	ensembl	human	known	74_37	missense	14.86	63	11	SNP	1.000	T	T	2737237	C	T	2737237	3	4	87	1	0	0	0	0	1	0	0	0	14664	739	26	3	1041	3	SLC39A3	19	2737237	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	331826	2737237	56391746	1704	24828											
ZNF554	115196	genome.wustl.edu	37	chr19	2834366	2834366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaactcatactggagagaAgccctacgggtgcggtgagt	11	7	15	8	2	1	3	1	1	0	2	1	6	1	4	1	3	5	0	1	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:2834366A>G	ENST00000317243.5	+	5	1331	c.1133A>G	c.(1132-1134)aAg>aGg	p.K378R		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGAGAGAAGCCCTACGGG	0.552																																																	0													43	48	46					19																	2834366		2179	4288	6467	SO:0001583	missense	0			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1133A>G	19.37:g.2834366A>G	ENSP00000321132:p.Lys378Arg		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K378R	ENST00000317243.5	37	c.1133	CCDS42462.1	19	.	.	.	.	.	.	.	.	.	.	A	15.25	2.777665	0.49786	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.76	1.73	0.24493	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16599	0.0399	L	0.28274	0.84	0.80722	D	1	B	0.21147	0.052	B	0.27170	0.077	T	0.06409	-1.0828	9	0.41790	T	0.15	.	5.9256	0.19110	0.8628:0.0:0.1372:0.0	.	378	Q86TJ5	ZN554_HUMAN	R	378	ENSP00000321132:K378R	ENSP00000321132:K378R	K	+	2	0	ZNF554	2785366	0.035000	0.19736	0.948000	0.38648	0.733000	0.41908	0.191000	0.17076	0.312000	0.23038	-0.350000	0.07774	AAG	ZNF554	-	pfscan_Znf_C2H2	ENSG00000172006		0.552	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF554	HGNC	protein_coding	OTTHUMT00000451598.3	-	0	53	0	A	NM_152303		2834366	1	tier1	-	no_errors	ENST00000317243	ensembl	human	known	74_37	missense	27.50	29	11	SNP	1.000	G	G	2834366	A	G	2834366	3	3	87	1	0	0	0	0	1	0	0	0	18033	72	3	4	1151	4	ZNF554	19	2834366	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	97129	2834366	56294617	1705	24829											
TLE2	7089	genome.wustl.edu	37	chr19	3019732	3019732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcccccacggtgacctGcttggcgcgttctacggcct	4	9	11	17	4	1	1	0	1	1	0	2	1	2	1	4	3	3	3	4	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:3019732G>T	ENST00000262953.6	-	6	596	c.334C>A	c.(334-336)Cag>Aag	p.Q112K	TLE2_ENST00000590536.1_Missense_Mutation_p.Q112K|TLE2_ENST00000455444.2_Missense_Mutation_p.Q57K|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000591529.1_Missense_Mutation_p.Q125K|TLE2_ENST00000443826.3_Missense_Mutation_p.Q57K|TLE2_ENST00000426948.2_Missense_Mutation_p.Q125K|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000586422.1_Missense_Mutation_p.Q57K	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	112	Gln-rich.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGTGACCTGCTTGGCGCGT	0.662																																																	0													30	40	37					19																	3019732		2092	4216	6308	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.334C>A	19.37:g.3019732G>T	ENSP00000262953:p.Gln112Lys		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q112K	ENST00000262953.6	37	c.334	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111355	0.56398	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948	T;T;T;T	0.62788	0.19;-0.0;-0.0;0.39	4.24	4.24	0.50183	Groucho/TLE, N-terminal Q-rich domain (1);	0.278559	0.36034	N	0.002833	T	0.80444	0.4624	M	0.91038	3.17	0.45183	D	0.998197	B;B;P;D	0.58620	0.284;0.36;0.568;0.983	B;B;B;P	0.62382	0.152;0.209;0.396;0.901	D	0.84984	0.0890	10	0.87932	D	0	-18.5239	12.5066	0.55986	0.0:0.0:1.0:0.0	.	57;125;57;112	E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;TLE2_HUMAN	K	112;57;105;57;125	ENSP00000262953:Q112K;ENSP00000413107:Q57K;ENSP00000392427:Q57K;ENSP00000392869:Q125K	ENSP00000262953:Q112K	Q	-	1	0	TLE2	2970732	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	8.712000	0.91403	2.084000	0.62774	0.462000	0.41574	CAG	TLE2	-	pfam_Groucho/TLE_N	ENSG00000065717		0.662	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	-	0	166	0	G	NM_003260		3019732	-1	tier1	-	no_errors	ENST00000262953	ensembl	human	known	74_37	missense	6.85	136	10	SNP	1.000	T	T	3019732	G	T	3019732	3	4	87	1	0	0	0	0	1	0	0	0	15986	1328	46	3	1960	3	TLE2	19	3019732	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	185366	3019732	56109251	1706	24830											
GNA15	2769	genome.wustl.edu	37	chr19	3162988	3162988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggactcggtgctcgccCgctacctggacgagatcaac	7	7	13	14	5	1	1	1	0	0	1	3	4	1	3	2	3	4	2	2	3	2	1	rs144051973		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:3162988C>T	ENST00000262958.3	+	7	1354	c.1096C>T	c.(1096-1098)Cgc>Tgc	p.R366C		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	366					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R366C(2)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGTGCTCGCCCGCTACCTGGA	0.672											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	skin(2)											85	72	77					19																	3162988		2203	4300	6503	SO:0001583	missense	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.1096C>T	19.37:g.3162988C>T	ENSP00000262958:p.Arg366Cys	609	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.R366C	ENST00000262958.3	37	c.1096	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	c	18.50	3.637038	0.67130	.	.	ENSG00000060558	ENST00000262958	D	0.82984	-1.67	3.9	3.9	0.45041	.	0.111669	0.37669	N	0.001982	T	0.75102	0.3804	L	0.42744	1.35	0.46725	D	0.999173	B	0.16802	0.019	B	0.15484	0.013	T	0.73379	-0.4001	10	0.56958	D	0.05	.	8.7792	0.34781	0.2253:0.7747:0.0:0.0	.	366	P30679	GNA15_HUMAN	C	366	ENSP00000262958:R366C	ENSP00000262958:R366C	R	+	1	0	GNA15	3113988	0.004000	0.15560	1.000000	0.80357	0.972000	0.66771	-0.031000	0.12287	2.001000	0.58596	0.491000	0.48974	CGC	GNA15	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000060558		0.672	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2		0	18	0	C	NM_002068		3162988	1			no_errors	ENST00000262958	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	3162988	C	T	3162988	3	4	87	1	0	0	0	0	1	0	0	0	6529	652	23	1	1122	1	GNA15	19	3162988	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	143256	3162988	55965995	1707	24831											
C19orf28	126321	genome.wustl.edu	37	chr19	3544900	3544900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaccatcgcccagtGgtaaaagctcacgcaggccc	11	4	9	17	2	1	0	1	0	0	0	2	0	1	0	4	2	2	3	4	2	2	1	rs368039343		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:3544900G>T	ENST00000355415.2	-	9	1496	c.1327C>A	c.(1327-1329)Cac>Aac	p.H443N	MFSD12_ENST00000389395.3_Missense_Mutation_p.H443N|MFSD12_ENST00000398558.4_Missense_Mutation_p.H443N|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	443					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						ATCGCCCAGTGGTAAAAGCTC	0.692											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	25	22					19																	3544900		2146	4243	6389	SO:0001583	missense	0			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 28"	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.1327C>A	19.37:g.3544900G>T	ENSP00000347583:p.His443Asn	612	A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.H443N	ENST00000355415.2	37	c.1327	CCDS42465.1	19	.	.	.	.	.	.	.	.	.	.	g	17.09	3.299825	0.60195	.	.	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.80033	-1.33;-1.33;-1.33	4.59	4.59	0.56863	Major facilitator superfamily domain, general substrate transporter (1);	0.050379	0.85682	D	0.000000	T	0.77336	0.4115	M	0.67953	2.075	0.49299	D	0.999777	B;P;P	0.40000	0.339;0.496;0.698	B;B;B	0.35971	0.048;0.215;0.155	T	0.76857	-0.2804	10	0.23891	T	0.37	-14.5103	16.4147	0.83730	0.0:0.0:1.0:0.0	.	443;434;443	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	N	443	ENSP00000374046:H443N;ENSP00000381566:H443N;ENSP00000347583:H443N	ENSP00000347583:H443N	H	-	1	0	C19orf28	3495900	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	6.712000	0.74681	2.106000	0.64143	0.486000	0.48141	CAC	MFSD12	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000161091		0.692	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	-	0	44	0	G	NM_174983		3544900	-1	tier1	-	no_errors	ENST00000398558	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	T	T	3544900	G	T	3544900	3	4	87	1	0	0	0	0	1	0	0	0	1924	1348	47	3	330	3	C19orf28	19	3544900	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	381912	3544900	55584083	1708	24832											
MPND	84954	genome.wustl.edu	37	chr19	4357332	4357332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggcgctgccatctcTgcaggacatcgacgcacaga	9	5	11	16	4	1	1	0	0	1	1	3	3	1	2	2	2	3	3	2	2	0	0	rs375908042		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4357332T>C	ENST00000262966.8	+	9	1146	c.1079T>C	c.(1078-1080)cTg>cCg	p.L360P	MPND_ENST00000599840.1_Missense_Mutation_p.L360P|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.L310P	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	360	MPN.						peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCATCTCTGCAGGACATC	0.667																																																	0								T	PRO/LEU,PRO/LEU	0,4062		0,0,2031	23	25	24		929,1079	3.7	1	19		24	1,8395		0,1,4197	no	missense,missense	MPND	NM_001159846.1,NM_032868.4	98,98	0,1,6228	CC,CT,TT		0.0119,0.0,0.0080	probably-damaging,probably-damaging	310/452,360/472	4357332	1,12457	2031	4198	6229	SO:0001583	missense	0				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.1079T>C	19.37:g.4357332T>C	ENSP00000262966:p.Leu360Pro		Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	pfam_JAB_MPN_dom	p.L360P	ENST00000262966.8	37	c.1079	CCDS42470.1	19	.	.	.	.	.	.	.	.	.	.	t	14.45	2.540334	0.45176	0.0	1.19E-4	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.53423	0.62;0.62	3.67	3.67	0.42095	.	0.000000	0.64402	U	0.000004	T	0.61400	0.2344	L	0.58354	1.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.996	T	0.62515	-0.6838	10	0.52906	T	0.07	-16.3475	10.5622	0.45152	0.0:0.0:0.0:1.0	.	310;360;360	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	P	360;310	ENSP00000262966:L360P;ENSP00000353015:L310P	ENSP00000262966:L360P	L	+	2	0	MPND	4308332	1.000000	0.71417	0.951000	0.38953	0.201000	0.24016	6.888000	0.75622	1.664000	0.50801	0.379000	0.24179	CTG	MPND	-	pfam_JAB_MPN_dom	ENSG00000008382		0.667	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MPND	HGNC	protein_coding	OTTHUMT00000458292.1		0	58	0	T	NM_032868		4357332	1			no_errors	ENST00000262966	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	C	C	4357332	T	C	4357332	3	2	87	1	0	0	0	0	1	0	0	0	9769	1580	55	4	1113	4	MPND	19	4357332	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	812432	4357332	54771651	1709	24833											
SH3GL1	6455	genome.wustl.edu	37	chr19	4361753	4361753	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccgtcgttctcgggctcGaagtcgtacagcgccttgca	5	10	11	15	6	1	0	0	0	1	0	6	1	2	0	3	1	3	4	3	1	2	3	rs576935472		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4361753G>A	ENST00000269886.3	-	10	1129	c.951C>T	c.(949-951)ttC>ttT	p.F317F	SH3GL1_ENST00000417295.2_Silent_p.F269F|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Silent_p.F253F	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	317	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCTCGGGCTCGAAGTCGTACA	0.687			T	MLL	AL								G|||	1	0.000199681	8e-04	0	5008	,	,		12436	0		0	False		,,,				2504	0				NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													74	59	64					19																	4361753		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"extra 11-19 leukemia fusion", "fusion partner of MLL", "SH3-containing Grb-2-like 1 protein", "SH3-containing protein EEN", "SH3 domain GRB2-like 1"	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.951C>T	19.37:g.4361753G>A			B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.F317	ENST00000269886.3	37	c.951	CCDS32874.1	19																																																																																			SH3GL1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	ENSG00000141985		0.687	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL1	HGNC	protein_coding	OTTHUMT00000458302.1		0	67	0	G	NM_003025		4361753	-1			no_errors	ENST00000269886	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.995	A	A	4361753	G	A	4361753	2	1	87	1	0	0	0	0	0	0	0	1	14295	1049	37	1		1	SH3GL1	19	4361753	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4421	4361753	54767230	1710	24834											
CHAF1A	10036	genome.wustl.edu	37	chr19	4422628	4422629	+	Frame_Shift_Del	DEL	AG	AG	-																															gaagaaaaggagaagctgaaAgaggaggccaagcgggccaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4422628_4422629delAG	ENST00000301280.5	+	5	1184_1185	c.1083_1084delAG	c.(1081-1086)aaagagfs	p.E363fs		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	363	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGCTGAAAGAGGAGGCCAA	0.545								Chromatin Structure																																									0																																										SO:0001589	frameshift_variant	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1083_1084delAG	19.37:g.4422630_4422631delAG	ENSP00000301280:p.Glu363fs		Q6NXG5|Q7Z7K3|Q9UJY8	Frame_Shift_Del	DEL	pfam_CAF1A	p.E362fs	ENST00000301280.5	37	c.1083_1084	CCDS32875.1	19																																																																																			CHAF1A	-	NULL	ENSG00000167670		0.545	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2		0	40	0	AG	NM_005483		4422629	1	tier1		no_errors	ENST00000301280	ensembl	human	known	74_37	frame_shift_del	18.60	35	8	DEL	0.362:0.964	-	-	4422629	AG	-	4422628	7	5	87	1	0	1	0	1	0	0	0	0	3318	69	3	0	1101	0	CHAF1A	19	4422628	Frame_Shift_Del	DEL	AG	TCGA-L5-A8NM-01A-11D-A37C-09	60875	4422628	54706355	1711	24835											
CHAF1A	10036	genome.wustl.edu	37	chr19	4433174	4433174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgctcagcaaccacaccGgcagcccgcggagcccctcc	8	3	10	20	3	1	0	1	0	0	0	2	2	2	1	6	2	5	3	6	2	1	0	rs529604161	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4433174G>A	ENST00000301280.5	+	13	2412	c.2311G>A	c.(2311-2313)Ggc>Agc	p.G771S	CTB-50L17.5_ENST00000590159.1_RNA|CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	771	Binds to p60.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACCACACCGGCAGCCCGCG	0.672								Chromatin Structure																																									0													41	46	44					19																	4433174		2203	4299	6502	SO:0001583	missense	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"chromatin assembly factor I (150 kDa)"	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.2311G>A	19.37:g.4433174G>A	ENSP00000301280:p.Gly771Ser		Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A	p.G771S	ENST00000301280.5	37	c.2311	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	3.481	-0.105802	0.06924	.	.	ENSG00000167670	ENST00000301280	T	0.25749	1.78	4.96	-0.453	0.12201	.	.	.	.	.	T	0.07773	0.0195	N	0.01705	-0.755	0.09310	N	1	B	0.15719	0.014	B	0.04013	0.001	T	0.38929	-0.9638	8	.	.	.	-8.1537	5.4611	0.16617	0.3133:0.4152:0.2715:0.0	.	771	Q13111	CAF1A_HUMAN	S	771	ENSP00000301280:G771S	.	G	+	1	0	CHAF1A	4384174	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.432000	0.06956	-0.269000	0.09298	-0.345000	0.07892	GGC	CHAF1A	-	NULL	ENSG00000167670		0.672	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	-	0	147	0	G	NM_005483		4433174	1	tier1	-	no_errors	ENST00000301280	ensembl	human	known	74_37	missense	10.53	136	16	SNP	0.000	A	A	4433174	G	A	4433174	3	1	87	1	0	0	0	0	1	0	0	0	3318	1116	39	1	2361	1	CHAF1A	19	4433174	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10546	4433174	54695809	1712	24836											
PLIN4	729359	genome.wustl.edu	37	chr19	4516633	4516633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacatcctctcacctttTccgaaggttgcagctccttc	6	13	6	16	1	1	0	1	0	1	0	6	1	4	0	4	1	3	4	4	1	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4516633T>C	ENST00000301286.3	-	2	208	c.209A>G	c.(208-210)gAa>gGa	p.E70G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	70						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTCACCTTTTCCGAAGGTTG	0.642																																																	0													47	52	50					19																	4516633		2004	4160	6164	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"Perilipins"	29393	protein-coding gene	gene with protein product		613247	"KIAA1881"	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.209A>G	19.37:g.4516633T>C	ENSP00000301286:p.Glu70Gly		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.E70G	ENST00000301286.3	37	c.209	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	T	5.240	0.229711	0.09916	.	.	ENSG00000167676	ENST00000301286	T	0.11063	2.81	2.66	0.54	0.17163	.	.	.	.	.	T	0.03520	0.0101	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42565	-0.9444	9	0.33940	T	0.23	.	4.6452	0.12568	0.0:0.303:0.0:0.697	.	70	Q96Q06	PLIN4_HUMAN	G	70	ENSP00000301286:E70G	ENSP00000301286:E70G	E	-	2	0	PLIN4	4467633	0.719000	0.27986	0.017000	0.16124	0.054000	0.15201	0.548000	0.23314	0.051000	0.15978	-0.607000	0.04081	GAA	PLIN4	-	pfam_Perilipin	ENSG00000167676		0.642	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0	84	0	T	XM_170901		4516633	-1	tier1	-	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	26.56	47	17	SNP	0.020	C	C	4516633	T	C	4516633	3	2	87	1	0	0	0	0	1	0	0	0	12131	1783	62	4	3884	4	PLIN4	19	4516633	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	83459	4516633	54612350	1713	24837											
FEM1A	55527	genome.wustl.edu	37	chr19	4792689	4792689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggctccgtgctgcagcTcctccccagaggaaccactg	7	6	13	15	1	0	1	0	0	0	1	3	2	3	2	5	3	4	4	5	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:4792689T>C	ENST00000269856.3	+	1	962	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	275					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGCAGCTCCTCCCCAGA	0.652																																																	0													37	40	39					19																	4792689		2203	4300	6503	SO:0001583	missense	0			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"Ankyrin repeat domain containing"	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.823T>C	19.37:g.4792689T>C	ENSP00000269856:p.Ser275Pro		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S275P	ENST00000269856.3	37	c.823	CCDS12135.1	19	.	.	.	.	.	.	.	.	.	.	T	4.804	0.149441	0.09185	.	.	ENSG00000141965	ENST00000269856	T	0.68331	-0.32	4.19	-3.45	0.04781	.	9.218410	0.02007	N	0.046716	T	0.41282	0.1152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.66056	D	0.02	.	0.3995	0.00423	0.226:0.2617:0.2496:0.2627	.	275	Q9BSK4	FEM1A_HUMAN	P	275	ENSP00000269856:S275P	ENSP00000269856:S275P	S	+	1	0	FEM1A	4743689	0.000000	0.05858	0.000000	0.03702	0.343000	0.28985	-0.007000	0.12810	-0.217000	0.10033	0.402000	0.26972	TCC	FEM1A	-	NULL	ENSG00000141965		0.652	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1	-	0	40	0	T			4792689	1	tier1	-	no_errors	ENST00000269856	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.000	C	C	4792689	T	C	4792689	3	2	87	1	0	0	0	0	1	0	0	0	5831	1551	54	4	825	4	FEM1A	19	4792689	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	276056	4792689	54336294	1714	24838											
SAFB	6294	genome.wustl.edu	37	chr19	5661791	5661791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaggagcggcggcccGcggtgcggcggccctacgac	6	3	18	14	7	0	1	0	1	0	0	0	3	0	2	2	6	4	1	2	6	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:5661791G>A	ENST00000292123.5	+	15	2232	c.2125G>A	c.(2125-2127)Gcg>Acg	p.A709T	SAFB_ENST00000538656.1_Missense_Mutation_p.A551T|SAFB_ENST00000433404.1_Missense_Mutation_p.A539T|SAFB_ENST00000592224.1_Missense_Mutation_p.A708T|SAFB_ENST00000588852.1_Missense_Mutation_p.A709T|SAFB_ENST00000454510.1_Missense_Mutation_p.A640T	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	709	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCGGCGGCCCGCGGTGCGGCG	0.662																																					Colon(88;338 1345 6184 8214 20897)												0													5	6	5					19																	5661791		2040	4052	6092	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2125G>A	19.37:g.5661791G>A	ENSP00000292123:p.Ala709Thr		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.A709T	ENST00000292123.5	37	c.2125	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132829	0.56828	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.11385	2.81;2.96;2.8;2.78	4.99	4.99	0.66335	.	0.116874	0.38005	N	0.001843	T	0.14960	0.0361	L	0.55834	1.745	0.28634	N	0.907507	P;P;P;P;P;P;P	0.41748	0.649;0.649;0.761;0.649;0.649;0.649;0.649	B;B;B;B;B;B;B	0.38842	0.224;0.224;0.283;0.147;0.147;0.147;0.147	T	0.03761	-1.1006	10	0.66056	D	0.02	-12.2914	18.6251	0.91334	0.0:0.0:1.0:0.0	.	508;551;640;708;709;709;708	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	T	640;604;539;709;551	ENSP00000415895:A640T;ENSP00000404545:A539T;ENSP00000292123:A709T;ENSP00000438880:A551T	ENSP00000292123:A709T	A	+	1	0	SAFB	5612791	0.012000	0.17670	0.075000	0.20258	0.794000	0.44872	1.198000	0.32223	2.490000	0.84030	0.455000	0.32223	GCG	SAFB	-	NULL	ENSG00000160633		0.662	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0	76	0	G			5661791	1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	missense	10.77	58	7	SNP	0.557	A	A	5661791	G	A	5661791	3	1	87	1	0	0	0	0	1	0	0	0	13851	1087	38	1	2183	1	SAFB	19	5661791	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	869102	5661791	53467192	1715	24839											
C19orf70	125988	genome.wustl.edu	37	chr19	5679654	5679654	+	Frame_Shift_Del	DEL	G	G	-																															tggctgaactggtacatggcGggggggaccacctccccagc																								rs201308097		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:5679654delG	ENST00000309324.4	-	2	559	c.150delC	c.(148-150)cccfs	p.P50fs	C19orf70_ENST00000587950.1_Frame_Shift_Del_p.P72fs|HSD11B1L_ENST00000301382.4_5'Flank|C19orf70_ENST00000587589.1_Frame_Shift_Del_p.P50fs|HSD11B1L_ENST00000423665.2_5'Flank|HSD11B1L_ENST00000339423.2_5'Flank|HSD11B1L_ENST00000342970.2_5'Flank|HSD11B1L_ENST00000422535.2_5'Flank|HSD11B1L_ENST00000581521.1_5'Flank|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000590389.1_Frame_Shift_Del_p.P72fs|HSD11B1L_ENST00000581893.1_5'Flank|HSD11B1L_ENST00000411793.2_5'Flank|C19orf70_ENST00000585605.1_5'UTR|HSD11B1L_ENST00000577917.1_5'Flank|RPL36_ENST00000577222.1_5'Flank|HSD11B1L_ENST00000581773.1_5'Flank|HSD11B1L_ENST00000583928.1_5'Flank	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	50						mitochondrion (GO:0005739)				endometrium(1)|lung(1)	2						GGTACATGGCGGGGGGGACCA	0.662																																																	0													49	46	47					19																	5679654		2203	4299	6502	SO:0001589	frameshift_variant	0			BC009557	CCDS12143.1	19p13.3	2012-10-26			ENSG00000174917	ENSG00000174917			33702	protein-coding gene	gene with protein product						14702039, 17353931	Standard	NM_205767		Approved	QIL1, P117	uc002mch.1	Q5XKP0		ENST00000309324.4:c.150delC	19.37:g.5679654delG	ENSP00000309561:p.Pro50fs		Q86YE5	Frame_Shift_Del	DEL	NULL	p.A51fs	ENST00000309324.4	37	c.150	CCDS12143.1	19																																																																																			C19orf70	-	NULL	ENSG00000174917		0.662	C19orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf70	HGNC	protein_coding	OTTHUMT00000451656.1		0	42	0	G	NM_205767		5679654	-1	tier1		no_errors	ENST00000309324	ensembl	human	known	74_37	frame_shift_del	22.45	38	11	DEL	0.000	-	-	5679654	G	-	5679654	7	5	87	1	0	1	0	1	0	0	0	0	1954	1103	39	0	218	0	C19orf70	19	5679654	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	17863	5679654	53449329	1716	24840											
RFX2	5990	genome.wustl.edu	37	chr19	6013117	6013117	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtacttcgagttgcccCtggaaaccaaacatcccagg	12	8	9	12	1	0	0	0	0	0	0	2	2	1	1	4	3	4	2	4	3	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6013117C>A	ENST00000303657.5	-	8	929		c.e8-1		CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Splice_Site|RFX2_ENST00000592546.1_Splice_Site	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGAGTTGCCCCTGGAAACCAA	0.493																																					Colon(38;171 817 19800 47433 48051)												0													107	100	102					19																	6013117		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.780-1G>T	19.37:g.6013117C>A			A8K581|B3KNC4|Q6IQ44|Q8SNA2	Splice_Site	SNP	-	e7-1	ENST00000303657.5	37	c.780-1	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557524	0.86231	.	.	ENSG00000087903	ENST00000303657;ENST00000359161	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7199	0.85407	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFX2	5964117	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.616000	0.83018	2.356000	0.79943	0.557000	0.71058	.	RFX2	-	-	ENSG00000087903		0.493	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	-	0	39	0	C	NM_000635	Intron	6013117	-1	tier1	-	no_errors	ENST00000303657	ensembl	human	known	74_37	splice_site	9.52	38	4	SNP	1.000	A	A	6013117	C	A	6013117	5	1	87	1	0	0	0	0	0	0	1	0	13308	695	24	3	1436	3	RFX2	19	6013117	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	333463	6013117	53115866	1717	24841											
RFX2	5990	genome.wustl.edu	37	chr19	6026217	6026218	+	Frame_Shift_Ins	INS	-	-	T																															gtgtgatgtgattccttcgcINSttttttggaggttttcaatc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6026217_6026218insT	ENST00000303657.5	-	6	702_703	c.553_554insA	c.(553-555)agcfs	p.S185fs	RFX2_ENST00000359161.3_Frame_Shift_Ins_p.S185fs|RFX2_ENST00000592546.1_Intron	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GATTCCTTCGCTTTTTTGGAGG	0.401																																					Colon(38;171 817 19800 47433 48051)												0																																										SO:0001589	frameshift_variant	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"trans-acting regulatory factor 2", "DNA binding protein RFX2", "HLA class II regulatory factor RFX2"	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.554dupA	19.37:g.6026223_6026223dupT	ENSP00000306335:p.Ser185fs		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Frame_Shift_Ins	INS	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.S185fs	ENST00000303657.5	37	c.554_553	CCDS12157.1	19																																																																																			RFX2	-	NULL	ENSG00000087903		0.401	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1		0	116	0	-	NM_000635		6026218	-1	tier1		no_errors	ENST00000303657	ensembl	human	known	74_37	frame_shift_ins	13.92	68	11	INS	0.999:1.000	T	T	6026218	-	T	6026217	7	5	87	1	0	1	1	0	0	0	0	0	13308	797	28	0	1669	0	RFX2	19	6026217	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	13100	6026217	53102766	1718	24842											
ACSBG2	81616	genome.wustl.edu	37	chr19	6147615	6147615	+	Frame_Shift_Del	DEL	A	A	-																															ccctcgcatccaagaatggcAaaaagtgggaaattctgaat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6147615delA	ENST00000586696.1	+	3	502	c.226delA	c.(226-228)aaafs	p.K77fs	ACSBG2_ENST00000588304.1_Frame_Shift_Del_p.K27fs|ACSBG2_ENST00000591403.1_Frame_Shift_Del_p.K77fs|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Frame_Shift_Del_p.K77fs			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	77					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAGAATGGCAAAAAGTGGGA	0.448																																																	0													159	163	161					19																	6147615		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"Acyl-CoA synthetase family"	24174	protein-coding gene	gene with protein product	"bubblegum related protein"	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.226delA	19.37:g.6147615delA	ENSP00000465589:p.Lys77fs		B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig	p.K77fs	ENST00000586696.1	37	c.226	CCDS12159.1	19																																																																																			ACSBG2	-	NULL	ENSG00000130377		0.448	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG2	HGNC	protein_coding	OTTHUMT00000452898.1		0	74	0	A	NM_030924		6147615	1	tier1		no_errors	ENST00000252669	ensembl	human	known	74_37	frame_shift_del	12.33	64	9	DEL	0.000	-	-	6147615	A	-	6147615	7	5	87	1	0	1	0	1	0	0	0	0	174	131	5	0	232	0	ACSBG2	19	6147615	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	121398	6147615	52981368	1719	24843											
TNFSF9	8744	genome.wustl.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-																															ccttgggccctggtcgcgggGctgctgctgctgctgctgct																								rs564151103	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																																	0																																										SO:0001651	inframe_deletion	0			U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"Tumor necrosis factor (ligand) superfamily"	11939	protein-coding gene	gene with protein product	"receptor 4-1BB ligand", "homolog of mouse 4-1BB-L"	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del		Q2M3S2	In_Frame_Del	DEL	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.L38in_frame_del	ENST00000245817.3	37	c.102_104	CCDS12169.1	19																																																																																			TNFSF9	-	NULL	ENSG00000125657		0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF9	HGNC	protein_coding	OTTHUMT00000457856.1		0	20	0	GCT	NM_003811		6531151	1			no_errors	ENST00000245817	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.039:0.043:0.048	0	-	6531151	GCT	-	6531149	7	5	87	1	0	1	0	1	0	0	0	0	16359	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-L5-A8NM-01A-11D-A37C-09	383534	6531149	52597834	1720	24844											
C3	718	genome.wustl.edu	37	chr19	6718124	6718124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaatgttgaccatgaccGtccggcccacgggtagcagc	8	7	11	15	3	1	2	1	2	0	0	2	2	2	2	5	2	2	3	5	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:6718124G>A	ENST00000245907.6	-	4	577	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	162					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GACCATGACCGTCCGGCCCAC	0.612																																																	0													102	98	99					19																	6718124		2203	4300	6503	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.485C>T	19.37:g.6718124G>A	ENSP00000245907:p.Thr162Met		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.T162M	ENST00000245907.6	37	c.485	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290769	0.40494	.	.	ENSG00000125730	ENST00000245907	T	0.74002	-0.8	4.56	3.5	0.40072	Alpha-2-macroglobulin, N-terminal (1);	0.508491	0.21667	N	0.070923	D	0.83257	0.5215	M	0.74389	2.26	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.74077	-0.3781	10	0.27785	T	0.31	.	12.7512	0.57310	0.0:0.167:0.833:0.0	.	162	P01024	CO3_HUMAN	M	162	ENSP00000245907:T162M	ENSP00000245907:T162M	T	-	2	0	C3	6669124	0.018000	0.18449	0.587000	0.28692	0.477000	0.33069	0.975000	0.29449	1.054000	0.40438	0.298000	0.19748	ACG	C3	-	pfam_A2M_N	ENSG00000125730		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0	39	0	G	NM_000064		6718124	-1			no_errors	ENST00000245907	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.222	A	A	6718124	G	A	6718124	3	1	87	1	0	0	0	0	1	0	0	0	2211	1145	40	1	4658	1	C3	19	6718124	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	186975	6718124	52410859	1721	24845											
MCOLN1	57192	genome.wustl.edu	37	chr19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcgtgatccgctacctgacCttcttccacaactacaatgt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7594070_7594072delCTT	ENST00000264079.6	+	10	1343_1345	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes). {ECO:0000269|PubMed:11030752, ECO:0000269|PubMed:11317355, ECO:0000269|PubMed:12182165}.		calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581																																																	0																																										SO:0001651	inframe_deletion	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"Voltage-gated ion channels / Transient receptor potential cation channels"	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1218_1220delCTT	19.37:g.7594073_7594075delCTT	ENSP00000264079:p.Phe408del		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	In_Frame_Del	DEL	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.F408in_frame_del	ENST00000264079.6	37	c.1218_1220	CCDS12180.1	19																																																																																			MCOLN1	-	pfam_PKD1_2_channel	ENSG00000090674		0.581	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2		0	47	0	CTT	NM_020533		7594072	1	tier1		no_errors	ENST00000264079	ensembl	human	known	74_37	in_frame_del	30.77	18	8	DEL	0.997:1.000:1.000	-	-	7594072	CTT	-	7594070	7	5	87	1	0	1	0	1	0	0	0	0	9433	668	24	0	1256	0	MCOLN1	19	7594070	In_Frame_Del	DEL	CTT	TCGA-L5-A8NM-01A-11D-A37C-09	875946	7594070	51534913	1722	24846											
EVI5L	115704	genome.wustl.edu	37	chr19	7911536	7911536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagccccgatgagctggaGctgctggccaagctcgaaga	9	6	13	13	2	1	2	1	1	0	1	2	5	1	3	3	2	5	4	3	2	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7911536G>T	ENST00000270530.4	+	2	304	c.108G>T	c.(106-108)gaG>gaT	p.E36D	EVI5L_ENST00000538904.2_Missense_Mutation_p.E36D	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	36					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						ATGAGCTGGAGCTGCTGGCCA	0.662																																																	0													24	27	26					19																	7911536		2201	4299	6500	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.108G>T	19.37:g.7911536G>T	ENSP00000270530:p.Glu36Asp		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E36D	ENST00000270530.4	37	c.108	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010436	0.54361	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.05786	3.39;3.39	4.78	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	M	0.62016	1.91	0.51767	D	0.999931	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.967	T	0.00657	-1.1623	10	0.37606	T	0.19	-34.1377	9.8578	0.41096	0.1032:0.0:0.8968:0.0	.	36;36	B9A6I9;Q96CN4	.;EVI5L_HUMAN	D	36	ENSP00000270530:E36D;ENSP00000445905:E36D	ENSP00000270530:E36D	E	+	3	2	EVI5L	7817536	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.785000	0.38684	0.980000	0.38523	0.561000	0.74099	GAG	EVI5L	-	NULL	ENSG00000142459		0.662	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1		0	72	0	G	NM_145245		7911536	1			no_errors	ENST00000538904	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	7911536	G	T	7911536	3	4	87	1	0	0	0	0	1	0	0	0	5306	962	34	3	110	3	EVI5L	19	7911536	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	317466	7911536	51217447	1723	24847											
EVI5L	115704	genome.wustl.edu	37	chr19	7920932	7920932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaccggctcctgaaacAgcggattgaaaccctagaga	14	5	12	10	2	0	4	0	2	0	2	1	7	1	5	3	3	4	1	3	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7920932A>G	ENST00000270530.4	+	11	1374	c.1178A>G	c.(1177-1179)cAg>cGg	p.Q393R	EVI5L_ENST00000538904.2_Missense_Mutation_p.Q393R	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	393					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CTCCTGAAACAGCGGATTGAA	0.622																																																	0													70	58	62					19																	7920932		2203	4300	6503	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1178A>G	19.37:g.7920932A>G	ENSP00000270530:p.Gln393Arg		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q393R	ENST00000270530.4	37	c.1178	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294943	0.81025	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	D;T	0.97232	-4.3;3.31	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.97820	0.9284	M	0.76838	2.35	0.49687	D	0.99981	D;D	0.71674	0.998;0.991	D;P	0.64506	0.926;0.76	D	0.98173	1.0453	10	0.87932	D	0	-34.726	11.1874	0.48664	1.0:0.0:0.0:0.0	.	393;393	B9A6I9;Q96CN4	.;EVI5L_HUMAN	R	393	ENSP00000270530:Q393R;ENSP00000445905:Q393R	ENSP00000270530:Q393R	Q	+	2	0	EVI5L	7826932	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.109000	0.94291	1.755000	0.51935	0.459000	0.35465	CAG	EVI5L	-	NULL	ENSG00000142459		0.622	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	-	0	124	0	A	NM_145245		7920932	1	tier1	-	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	20.79	80	21	SNP	1.000	G	G	7920932	A	G	7920932	3	3	87	1	0	0	0	0	1	0	0	0	5306	188	7	4	1216	4	EVI5L	19	7920932	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	9396	7920932	51208051	1724	24848											
LRRC8E	80131	genome.wustl.edu	37	chr19	7964449	7964449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtactccttccgttccgtgCgggaggagactggcatgggg	6	9	16	10	3	0	1	0	0	0	1	3	3	3	2	3	5	2	3	3	5	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:7964449C>T	ENST00000306708.6	+	3	1143	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	RN7SL115P_ENST00000392196.5_RNA|AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	348					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCGTTCCGTGCGGGAGGAGAC	0.547																																																	0													84	68	73					19																	7964449		2203	4300	6503	SO:0001583	missense	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.1042C>T	19.37:g.7964449C>T	ENSP00000306524:p.Arg348Trp		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R348W	ENST00000306708.6	37	c.1042	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022324	0.54683	.	.	ENSG00000171017	ENST00000306708	T	0.30981	1.51	4.89	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.73598	2.24	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	T	0.55854	-0.8075	10	0.87932	D	0	.	10.2432	0.43326	0.4853:0.5147:0.0:0.0	.	348	Q6NSJ5	LRC8E_HUMAN	W	348	ENSP00000306524:R348W	ENSP00000306524:R348W	R	+	1	2	LRRC8E	7870449	0.996000	0.38824	0.977000	0.42913	0.993000	0.82548	2.937000	0.48979	1.279000	0.44446	0.555000	0.69702	CGG	LRRC8E	-	NULL	ENSG00000171017		0.547	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	-	0	28	0	C	NM_025061		7964449	1	tier1	-	no_errors	ENST00000306708	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.978	T	T	7964449	C	T	7964449	3	4	87	1	0	0	0	0	1	0	0	0	9060	759	27	1	1048	1	LRRC8E	19	7964449	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	43517	7964449	51164534	1725	24849											
FBN3	84467	genome.wustl.edu	37	chr19	8145954	8145954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaggcgcccacagtgttGacacagaggaactgacagtt	12	7	13	9	1	0	4	0	3	0	1	0	5	0	5	1	2	1	2	1	2	2	2	rs368025913		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:8145954G>A	ENST00000600128.1	-	59	7800	c.7386C>T	c.(7384-7386)gtC>gtT	p.V2462V	FBN3_ENST00000270509.2_Silent_p.V2462V|FBN3_ENST00000601739.1_Silent_p.V2462V			Q75N90	FBN3_HUMAN	fibrillin 3	2462	EGF-like 40; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACAGTGTTGACACAGAGGA	0.652																																																	0								G		0,4406		0,0,2203	86	75	79		7386	4.1	1	19		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FBN3	NM_032447.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2462/2810	8145954	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7386C>T	19.37:g.8145954G>A			Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.V2462	ENST00000600128.1	37	c.7386	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	96	0	G	NM_032447		8145954	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	silent	10.00	80	9	SNP	1.000	A	A	8145954	G	A	8145954	2	1	87	1	0	0	0	0	0	0	0	1	5726	1277	45	3		3	FBN3	19	8145954	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	181505	8145954	50983029	1726	24850											
NDUFA7	4701	genome.wustl.edu	37	chr19	8386227	8386227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgctggatgagacGggtggcggacgccatcttcc	6	6	15	14	5	1	1	0	1	1	1	2	4	2	3	4	4	1	2	4	4	0	1	rs553849517		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:8386227G>A	ENST00000301457.2	-	1	53	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	RPS28_ENST00000600659.2_5'Flank|NDUFA7_ENST00000598884.1_Missense_Mutation_p.R6C	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	6					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						TGGATGAGACGGGTGGCGGAC	0.716													G|||	1	0.000199681	0	0	5008	,	,		11554	0		0.001	False		,,,				2504	0																0													6	10	9					19																	8386227		1893	4051	5944	SO:0001583	missense	0			AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"Mitochondrial respiratory chain complex / Complex I"	7691	protein-coding gene	gene with protein product	"complex I B14.5a subunit"	602139	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.16C>T	19.37:g.8386227G>A	ENSP00000301457:p.Arg6Cys			Missense_Mutation	SNP	pfam_NADH-UbQ_OxRdtase_B14.5a_su	p.R6C	ENST00000301457.2	37	c.16	CCDS42492.1	19	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785850	0.70337	.	.	ENSG00000167774	ENST00000301457	T	0.47528	0.84	5.54	0.293	0.15742	.	0.140274	0.48286	D	0.000194	T	0.50582	0.1624	L	0.40543	1.245	0.09310	N	0.999998	D	0.76494	0.999	P	0.60609	0.877	T	0.44483	-0.9325	10	0.66056	D	0.02	-11.93	10.0863	0.42421	0.0:0.1155:0.4214:0.4631	.	6	O95182	NDUA7_HUMAN	C	6	ENSP00000301457:R6C	ENSP00000301457:R6C	R	-	1	0	NDUFA7	8292227	0.059000	0.20769	0.001000	0.08648	0.640000	0.38277	0.676000	0.25247	0.334000	0.23590	0.655000	0.94253	CGT	NDUFA7	-	pfam_NADH-UbQ_OxRdtase_B14.5a_su	ENSG00000267855		0.716	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA7	HGNC	protein_coding	OTTHUMT00000461373.1	-	0	37	0	G	NM_005001		8386227	-1	tier1	-	no_errors	ENST00000301457	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.008	A	A	8386227	G	A	8386227	3	1	87	1	0	0	0	0	1	0	0	0	10309	1116	39	1	341	1	NDUFA7	19	8386227	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	240273	8386227	50742756	1727	24851											
ANGPTL4	51129	genome.wustl.edu	37	chr19	8431167	8431167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctgcccgagatggcccagCcagttgacccggctcacaat	8	6	12	15	2	1	2	1	1	0	1	1	3	1	2	4	3	2	3	4	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:8431167C>T	ENST00000301455.2	+	3	682	c.511C>T	c.(511-513)Cca>Tca	p.P171S	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.P4S|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.P171S	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	171					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GATGGCCCAGCCAGTTGACCC	0.637																																																	0													71	76	74					19																	8431167		2203	4300	6503	SO:0001583	missense	0			AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"Fibrinogen C domain containing"	16039	protein-coding gene	gene with protein product	"fasting-induced adipose factor", "hepatic angiopoietin-related protein", "PPARG angiopoietin related protein", "hepatic fibrinogen/angiopoietin-related protein", "peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein", "angiopoietin-related protein 4"	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.511C>T	19.37:g.8431167C>T	ENSP00000301455:p.Pro171Ser		A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.P171S	ENST00000301455.2	37	c.511	CCDS12200.1	19	.	.	.	.	.	.	.	.	.	.	C	3.150	-0.174462	0.06421	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	T;T;T	0.55413	0.69;0.52;0.72	4.19	1.97	0.26223	.	1.450140	0.04789	U	0.431281	T	0.31827	0.0809	N	0.19112	0.55	0.09310	N	1	B;B	0.32160	0.003;0.358	B;B	0.26517	0.006;0.07	T	0.15321	-1.0441	10	0.08381	T	0.77	.	5.6421	0.17569	0.0:0.6892:0.2009:0.1099	.	171;171	A8MY84;Q9BY76	.;ANGL4_HUMAN	S	171;171;4	ENSP00000301455:P171S;ENSP00000377534:P171S;ENSP00000439833:P4S	ENSP00000301455:P171S	P	+	1	0	ANGPTL4	8337167	0.000000	0.05858	0.001000	0.08648	0.083000	0.17756	0.093000	0.15086	0.489000	0.27749	0.655000	0.94253	CCA	ANGPTL4	-	NULL	ENSG00000167772		0.637	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL4	HGNC	protein_coding	OTTHUMT00000460322.1	-	0	35	0	C	NM_139314		8431167	1	tier1	-	no_errors	ENST00000301455	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.001	T	T	8431167	C	T	8431167	3	4	87	1	0	0	0	0	1	0	0	0	616	739	26	3	521	3	ANGPTL4	19	8431167	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	44940	8431167	50697816	1728	24852											
OR7D2	162998	genome.wustl.edu	37	chr19	9297112	9297112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggatcattttctcttatTcacgaattgcttcatccata	9	18	5	9	1	4	0	3	0	1	0	6	2	5	1	1	1	1	1	1	1	3	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:9297112T>G	ENST00000344248.2	+	1	834	c.655T>G	c.(655-657)Tca>Gca	p.S219A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	219					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTCTCTTATTCACGAATTGC	0.463																																																	0													110	99	103					19																	9297112		2203	4300	6503	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"GPCR / Class A : Olfactory receptors"	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.655T>G	19.37:g.9297112T>G	ENSP00000345563:p.Ser219Ala		Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S219A	ENST00000344248.2	37	c.655	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	T	7.686	0.690138	0.15039	.	.	ENSG00000188000	ENST00000344248	T	0.00048	8.82	2.21	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.589336	0.12276	U	0.483389	T	0.00109	0.0003	N	0.20445	0.575	0.09310	N	1	B	0.15473	0.013	B	0.22880	0.042	T	0.20571	-1.0271	10	0.51188	T	0.08	.	3.1083	0.06350	0.4224:0.0:0.2147:0.3629	.	219	Q96RA2	OR7D2_HUMAN	A	219	ENSP00000345563:S219A	ENSP00000345563:S219A	S	+	1	0	OR7D2	9158112	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.607000	0.02070	0.257000	0.21650	0.418000	0.28097	TCA	OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188000		0.463	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	-	0	52	0	T			9297112	1	tier1	-	no_errors	ENST00000344248	ensembl	human	known	74_37	missense	25.00	39	13	SNP	0.001	G	G	9297112	T	G	9297112	3	3	87	1	0	0	0	0	1	0	0	0	11258	1783	62	4	657	4	OR7D2	19	9297112	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	865945	9297112	49831871	1729	24853											
PPAN	56342	genome.wustl.edu	37	chr19	10217080	10217080	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagcagcatgggacagTcagggagggtaaggcccggc	11	3	17	10	1	1	0	1	0	0	0	1	3	1	2	1	5	2	3	1	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10217080T>A	ENST00000253107.7	+	1	116	c.10T>A	c.(10-12)Tca>Aca	p.S4T	PPAN_ENST00000393793.1_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.S4T|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.S4T|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.S4T	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	4					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CATGGGACAGTCAGGGAGGGT	0.721																																																	0													35	35	35					19																	10217080		1999	3934	5933	SO:0001583	missense	0			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"peter pan (Drosophila) homolog"			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.10T>A	19.37:g.10217080T>A	ENSP00000253107:p.Ser4Thr		C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM	p.S4T	ENST00000253107.7	37	c.10	CCDS12225.1	19	.	.	.	.	.	.	.	.	.	.	T	13.93	2.383292	0.42207	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696	T;T;T;T	0.61742	1.49;0.08;1.54;0.08	4.94	2.75	0.32379	.	.	.	.	.	T	0.30572	0.0769	N	0.19112	0.55	0.09310	N	1	B;B;B	0.33694	0.118;0.421;0.118	B;B;B	0.24541	0.026;0.054;0.026	T	0.11867	-1.0570	9	0.13853	T	0.58	-4.8615	2.5006	0.04632	0.0:0.2957:0.2702:0.434	.	4;4;4	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	T	4	ENSP00000411918:S4T;ENSP00000377385:S4T;ENSP00000253107:S4T;ENSP00000450710:S4T	ENSP00000253107:S4T	S	+	1	0	PPAN;PPAN-P2RY11	10078080	0.901000	0.30685	0.102000	0.21198	0.088000	0.18126	0.930000	0.28858	0.329000	0.23460	0.459000	0.35465	TCA	PPAN-P2RY11	-	NULL	ENSG00000243207		0.721	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316658.1	-	0	22	0	T	NM_020230		10217080	1	tier1	-	no_errors	ENST00000393796	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.147	A	A	10217080	T	A	10217080	3	1	87	1	0	0	0	0	1	0	0	0	12327	1667	58	5	12	5	PPAN	19	10217080	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	919968	10217080	48911903	1730	24854											
DNMT1	1786	genome.wustl.edu	37	chr19	10254537	10254537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttgatccggccaattcgGtagggctcaggggcatccag	7	10	13	11	2	2	1	1	1	1	0	5	1	4	1	3	5	0	3	3	5	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10254537G>A	ENST00000340748.4	-	28	3208	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y	DNMT1_ENST00000540357.1_Silent_p.Y991Y|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Silent_p.Y1007Y			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	991	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GGCCAATTCGGTAGGGCTCAG	0.547																																																	0													254	238	243					19																	10254537		2203	4300	6503	SO:0001819	synonymous_variant	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2973C>T	19.37:g.10254537G>A			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.Y1007	ENST00000340748.4	37	c.3021	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000130816		0.547	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1		0	45	0	G	NM_001379		10254537	-1			no_errors	ENST00000359526	ensembl	human	known	74_37	silent	11.54	46	6	SNP	1.000	A	A	10254537	G	A	10254537	2	1	87	1	0	0	0	0	0	0	0	1	4689	1256	44	3		3	DNMT1	19	10254537	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	37457	10254537	48874446	1731	24855											
S1PR2	9294	genome.wustl.edu	37	chr19	10334909	10334909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctagcgtctgcggggCggccatgtcagcgtggcttg	4	8	18	11	4	2	0	1	0	1	0	2	0	2	0	1	5	3	2	1	5	1	2	rs143046723	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10334909C>T	ENST00000590320.1	-	2	783	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	225					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTGCGGGGCGGCCATGTCA	0.612																																					Pancreas(194;229 3020 15179 45747)												0								C	THR/ALA	0,4406		0,0,2203	71	60	64		673	4.8	0	19	dbSNP_134	64	5,8595	4.3+/-15.6	0,5,4295	yes	missense	S1PR2	NM_004230.3	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	225/354	10334909	5,13001	2203	4300	6503	SO:0001583	missense	0			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.673G>A	19.37:g.10334909C>T	ENSP00000466933:p.Ala225Thr		Q86UN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt	p.A225T	ENST00000590320.1	37	c.673	CCDS12229.1	19	.	.	.	.	.	.	.	.	.	.	C	9.940	1.217311	0.22373	0.0	5.81E-4	ENSG00000175898	ENST00000317726	.	.	.	5.81	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.550755	0.17097	U	0.187156	T	0.29716	0.0742	N	0.17474	0.49	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.19647	-1.0299	9	0.45353	T	0.12	.	13.864	0.63576	0.0:0.9254:0.0:0.0746	.	225	O95136	S1PR2_HUMAN	T	225	.	ENSP00000322049:A225T	A	-	1	0	S1PR2	10195909	0.000000	0.05858	0.021000	0.16686	0.000000	0.00434	1.133000	0.31430	1.474000	0.48178	-0.144000	0.13903	GCC	S1PR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt	ENSG00000267534		0.612	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR2	HGNC	protein_coding	OTTHUMT00000451194.1		0	29	0	C	NM_004230		10334909	-1			no_errors	ENST00000590320	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.174	T	T	10334909	C	T	10334909	3	4	87	1	0	0	0	0	1	0	0	0	13839	768	27	1	392	1	S1PR2	19	10334909	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	80372	10334909	48794074	1732	24856											
S1PR2	9294	genome.wustl.edu	37	chr19	10335511	10335511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcctgcgtttccagcGtctccttggtataattatag	6	16	8	11	3	2	0	0	0	2	0	6	0	3	0	3	1	2	2	3	1	4	6	rs189645503		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10335511G>A	ENST00000590320.1	-	2	181	c.71C>T	c.(70-72)aCg>aTg	p.T24M	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	24					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGTTTCCAGCGTCTCCTTGGT	0.577													G|||	1	0.000199681	0	0	5008	,	,		19662	0.001		0	False		,,,				2504	0				Pancreas(194;229 3020 15179 45747)												0								G	MET/THR	0,4406		0,0,2203	143	137	139		71	1.8	0.9	19		139	2,8598	2.2+/-6.3	0,2,4298	yes	missense	S1PR2	NM_004230.3	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	24/354	10335511	2,13004	2203	4300	6503	SO:0001583	missense	0			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3169	protein-coding gene	gene with protein product		605111	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.71C>T	19.37:g.10335511G>A	ENSP00000466933:p.Thr24Met		Q86UN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt	p.T24M	ENST00000590320.1	37	c.71	CCDS12229.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	8.235	0.805435	0.16467	0.0	2.33E-4	ENSG00000175898	ENST00000317726	.	.	.	5.09	1.8	0.24995	.	0.303471	0.31071	N	0.008307	T	0.32102	0.0818	L	0.44542	1.39	0.31460	N	0.669738	B	0.11235	0.004	B	0.06405	0.002	T	0.16217	-1.0410	9	0.34782	T	0.22	.	3.3445	0.07131	0.0841:0.1413:0.3482:0.4264	.	24	O95136	S1PR2_HUMAN	M	24	.	ENSP00000322049:T24M	T	-	2	0	S1PR2	10196511	0.000000	0.05858	0.863000	0.33907	0.591000	0.36615	0.046000	0.14035	0.548000	0.28955	0.586000	0.80456	ACG	S1PR2	-	prints_EDG5_rcpt	ENSG00000267534		0.577	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR2	HGNC	protein_coding	OTTHUMT00000451194.1		0	61	0	G	NM_004230		10335511	-1			no_errors	ENST00000590320	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.757	A	A	10335511	G	A	10335511	3	1	87	1	0	0	0	0	1	0	0	0	13839	1145	40	1	994	1	S1PR2	19	10335511	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	602	10335511	48793472	1733	24857											
MRPL4	51073	genome.wustl.edu	37	chr19	10370444	10370445	+	Frame_Shift_Ins	INS	-	-	C																															gcgacttcccccgacccctaINSccccacgctacccagggccc																								rs2304236	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10370444_10370445insC	ENST00000253099.6	+	9	1178_1179	c.891_892insC	c.(892-894)cccfs	p.P298fs	CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000307422.5_Frame_Shift_Ins_p.P298fs|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_3'UTR	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	298					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		CCCGACCCCTACCCCACGCTAC	0.658																																																	0																																										SO:0001589	frameshift_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"Mitochondrial ribosomal proteins / large subunits"	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.895dupC	19.37:g.10370448_10370448dupC	ENSP00000253099:p.Pro298fs		A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Frame_Shift_Ins	INS	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.H298fs	ENST00000253099.6	37	c.891_892	CCDS12230.1	19																																																																																			MRPL4	-	NULL	ENSG00000105364		0.658	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1		0	111	0	0			10370445	1			no_errors	ENST00000253099	ensembl	human	known	74_37	frame_shift_ins	7.69	96	8	INS	0.000:0.001	C	C	10370445	-	C	10370444	7	5	87	1	0	1	1	0	0	0	0	0	9841	378	14	0	978	0	MRPL4	19	10370444	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	34933	10370444	48758539	1734	24858											
PDE4A	5141	genome.wustl.edu	37	chr19	10578271	10578271	+	Frame_Shift_Del	DEL	G	G	-																															cactcccagctcctggtggcGgggggtcaggtggagaccct																								rs200139989		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10578271delG	ENST00000352831.6	+	15	2745	c.2635delG	c.(2635-2637)gggfs	p.G880fs	PDE4A_ENST00000592685.1_Frame_Shift_Del_p.G858fs|PDE4A_ENST00000440014.2_Frame_Shift_Del_p.G819fs|PDE4A_ENST00000380702.2_Frame_Shift_Del_p.G858fs|PDE4A_ENST00000293683.5_Frame_Shift_Del_p.G854fs|PDE4A_ENST00000344979.3_Frame_Shift_Del_p.G641fs	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	880					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TCCTGGTGGCGGGGGGTCAGG	0.667																																																	0													37	39	39					19																	10578271		2090	4120	6210	SO:0001589	frameshift_variant	0				CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"Phosphodiesterases"	8780	protein-coding gene	gene with protein product	"phosphodiesterase E2 dunce homolog (Drosophila)"	600126	"phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.2635delG	19.37:g.10578271delG	ENSP00000270474:p.Gly880fs		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Frame_Shift_Del	DEL	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.S881fs	ENST00000352831.6	37	c.2635	CCDS45961.1	19																																																																																			PDE4A	-	NULL	ENSG00000065989		0.667	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	HGNC	protein_coding	OTTHUMT00000451244.1		0	43	0	G			10578271	1	tier1		no_errors	ENST00000352831	ensembl	human	known	74_37	frame_shift_del	12.77	41	6	DEL	0.000	-	-	10578271	G	-	10578271	7	5	87	1	0	1	0	1	0	0	0	0	11678	1116	39	0	3150	0	PDE4A	19	10578271	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	207827	10578271	48550712	1735	24859											
KEAP1	9817	genome.wustl.edu	37	chr19	10610255	10610255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgttcatgacgtggaggAcacacttctcgcccatggag	9	8	11	13	3	2	1	1	1	1	0	3	4	2	4	2	3	0	1	2	3	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10610255A>G	ENST00000171111.5	-	2	1002	c.455T>C	c.(454-456)gTc>gCc	p.V152A	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.V152A	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	152					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GACGTGGAGGACACACTTCTC	0.582																																																	0													182	143	156					19																	10610255		2203	4300	6503	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.455T>C	19.37:g.10610255A>G	ENSP00000171111:p.Val152Ala		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V152A	ENST00000171111.5	37	c.455	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	A	16.33	3.091863	0.55968	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.69175	-0.38;-0.38	4.81	3.8	0.43715	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.128186	0.52532	D	0.000074	T	0.75759	0.3893	L	0.60067	1.865	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.74919	-0.3500	10	0.66056	D	0.02	.	8.5797	0.33621	0.9066:0.0:0.0934:0.0	.	152	Q14145	KEAP1_HUMAN	A	152	ENSP00000171111:V152A;ENSP00000377245:V152A	ENSP00000171111:V152A	V	-	2	0	KEAP1	10471255	1.000000	0.71417	0.989000	0.46669	0.401000	0.30781	9.093000	0.94163	0.703000	0.31848	-0.379000	0.06801	GTC	KEAP1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1		0	16	0	A	NM_012289		10610255	-1			no_errors	ENST00000171111	ensembl	human	known	74_37	missense	16.67	14	3	SNP	1.000	G	G	10610255	A	G	10610255	3	3	87	1	0	0	0	0	1	0	0	0	8168	275	10	4	1439	4	KEAP1	19	10610255	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	31984	10610255	48518728	1736	24860											
S1PR5	53637	genome.wustl.edu	37	chr19	10625120	10625120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcacgtaggccttggCgtagagcggcaagacagtgg	11	5	17	8	3	0	3	0	0	0	3	0	4	0	3	1	4	2	4	1	4	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10625120C>T	ENST00000439028.3	-	2	693	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A190T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	190					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	TAGGCCTTGGCGTAGAGCGGC	0.672																																																	0													28	24	26					19																	10625120		2200	4299	6499	SO:0001583	missense	0			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	14299	protein-coding gene	gene with protein product		605146	"endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.568G>A	19.37:g.10625120C>T	ENSP00000416915:p.Ala190Thr		Q6NW11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.A190T	ENST00000439028.3	37	c.568	CCDS12240.1	19	.	.	.	.	.	.	.	.	.	.	c	13.92	2.380416	0.42207	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.37058	1.22;1.22	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.147053	0.44285	U	0.000471	T	0.22126	0.0533	N	0.12471	0.22	0.34755	D	0.732162	D	0.55385	0.971	P	0.48795	0.59	T	0.09618	-1.0666	10	0.06891	T	0.86	.	9.5805	0.39484	0.3319:0.6681:0.0:0.0	.	190	Q9H228	S1PR5_HUMAN	T	190	ENSP00000416915:A190T;ENSP00000328472:A190T	ENSP00000328472:A190T	A	-	1	0	S1PR5	10486120	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.343000	0.44001	2.223000	0.72356	0.486000	0.48141	GCC	S1PR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180739		0.672	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	-	0	60	0	C	NM_030760		10625120	-1	tier1	-	no_errors	ENST00000333430	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T	T	10625120	C	T	10625120	3	4	87	1	0	0	0	0	1	0	0	0	13842	768	27	1	632	1	S1PR5	19	10625120	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	14865	10625120	48503863	1737	24861											
ILF3	3609	genome.wustl.edu	37	chr19	10789292	10789292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccatccatgaatagaaaCgctatcagtcaacgaccccc	14	8	5	14	2	2	2	2	1	0	1	4	3	4	2	4	0	2	1	4	0	5	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:10789292C>T	ENST00000590261.1	+	5	563	c.563C>T	c.(562-564)aCg>aTg	p.T188M	ILF3_ENST00000589998.1_Missense_Mutation_p.T188M|ILF3_ENST00000588657.1_Missense_Mutation_p.T188M|ILF3_ENST00000407004.3_Missense_Mutation_p.T188M|ILF3_ENST00000592763.1_Missense_Mutation_p.T188M|ILF3_ENST00000318511.3_Missense_Mutation_p.T188M|ILF3_ENST00000250241.8_Missense_Mutation_p.T188M|ILF3_ENST00000420083.1_Missense_Mutation_p.T188M|ILF3_ENST00000449870.1_Missense_Mutation_p.T188M			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	188	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGAATAGAAACGCTATCAGTC	0.527																																																	0													92	81	85					19																	10789292		2203	4300	6503	SO:0001583	missense	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.563C>T	19.37:g.10789292C>T	ENSP00000468156:p.Thr188Met		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.T188M	ENST00000590261.1	37	c.563	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988596	0.74589	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.95	3.84	0.44239	DZF (2);	0.323122	0.31461	N	0.007614	T	0.63474	0.2514	M	0.61703	1.905	0.58432	D	0.999993	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.77004	0.911;0.982;0.989;0.931;0.938;0.966	T	0.64871	-0.6305	10	0.66056	D	0.02	.	11.7737	0.51972	0.0:0.8559:0.0:0.1441	.	188;188;188;188;188;188	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	M	188	ENSP00000404121:T188M;ENSP00000315205:T188M;ENSP00000405436:T188M;ENSP00000384660:T188M;ENSP00000250241:T188M	ENSP00000250241:T188M	T	+	2	0	ILF3	10650292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.602000	0.46257	0.859000	0.35456	-0.140000	0.14226	ACG	ILF3	-	pfam_DZF,smart_DZF	ENSG00000129351		0.527	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	-	0	41	0	C			10789292	1	tier1	-	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	T	T	10789292	C	T	10789292	3	4	87	1	0	0	0	0	1	0	0	0	7739	536	19	1	581	1	ILF3	19	10789292	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	164172	10789292	48339691	1738	24862											
DOCK6	57572	genome.wustl.edu	37	chr19	11319375	11319375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctcaccatggtgaagtagCcggctgcctgttccagcaac	8	8	11	14	1	1	1	1	1	0	0	2	1	2	1	5	2	4	4	5	2	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:11319375C>T	ENST00000294618.7	-	39	5086	c.5075G>A	c.(5074-5076)gGc>gAc	p.G1692D	DOCK6_ENST00000319867.7_Missense_Mutation_p.G1031D|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1692	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGTGAAGTAGCCGGCTGCCTG	0.647																																																	0													35	40	38					19																	11319375		2002	4153	6155	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5075G>A	19.37:g.11319375C>T	ENSP00000294618:p.Gly1692Asp		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.G1692D	ENST00000294618.7	37	c.5075	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	c	9.419	1.082626	0.20309	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.20069	2.84;2.1	4.81	-0.247	0.13019	.	0.312116	0.33235	N	0.005135	T	0.06280	0.0162	N	0.01493	-0.835	0.29688	N	0.841196	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.10450	0.005;0.001;0.005	T	0.37103	-0.9720	10	0.14656	T	0.56	-5.2199	10.3126	0.43718	0.0743:0.3846:0.541:0.0	.	1031;1692;1031	C9IZV6;Q96HP0;B4DIL4	.;DOCK6_HUMAN;.	D	1692;1031	ENSP00000294618:G1692D;ENSP00000321556:G1031D	ENSP00000294618:G1692D	G	-	2	0	DOCK6	11180375	1.000000	0.71417	0.153000	0.22517	0.802000	0.45316	3.062000	0.49971	-0.079000	0.12707	-0.152000	0.13540	GGC	DOCK6	-	NULL	ENSG00000130158		0.647	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	-	0	20	0	C	NM_020812		11319375	-1	tier1	-	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.954	T	T	11319375	C	T	11319375	3	4	87	1	0	0	0	0	1	0	0	0	4705	739	26	3	1108	3	DOCK6	19	11319375	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	530083	11319375	47809608	1739	24863											
DOCK6	57572	genome.wustl.edu	37	chr19	11332655	11332655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggccacatagcaggCtgtgcacagcactgatggcc	9	8	12	12	0	1	1	1	1	0	0	1	1	1	1	2	3	3	4	2	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:11332655C>A	ENST00000294618.7	-	28	3433	c.3422G>T	c.(3421-3423)aGc>aTc	p.S1141I	DOCK6_ENST00000319867.7_Missense_Mutation_p.S480I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1141					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACATAGCAGGCTGTGCACAGC	0.597																																																	0													60	66	64					19																	11332655		2132	4237	6369	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3422G>T	19.37:g.11332655C>A	ENSP00000294618:p.Ser1141Ile		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.S1141I	ENST00000294618.7	37	c.3422	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636691	0.47049	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.24538	1.85;1.85	4.65	-0.0943	0.13645	.	0.372648	0.28821	N	0.014023	T	0.26085	0.0636	L	0.50333	1.59	0.42971	D	0.994438	B;B	0.29590	0.25;0.236	B;B	0.41988	0.372;0.206	T	0.10706	-1.0618	10	0.87932	D	0	-15.2202	4.6833	0.12745	0.0:0.4185:0.1543:0.4271	.	480;1141	C9IZV6;Q96HP0	.;DOCK6_HUMAN	I	1141;480	ENSP00000294618:S1141I;ENSP00000321556:S480I	ENSP00000294618:S1141I	S	-	2	0	DOCK6	11193655	0.999000	0.42202	0.996000	0.52242	0.611000	0.37282	0.873000	0.28052	-0.051000	0.13334	-0.339000	0.08088	AGC	DOCK6	-	NULL	ENSG00000130158		0.597	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1		0	24	0	C	NM_020812		11332655	-1			no_errors	ENST00000294618	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.998	A	A	11332655	C	A	11332655	3	1	87	1	0	0	0	0	1	0	0	0	4705	797	28	3	2805	3	DOCK6	19	11332655	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	13280	11332655	47796328	1740	24864											
ELAVL3	1995	genome.wustl.edu	37	chr19	11565666	11565666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccatcgatggcgatcggcGagaacctggcgatgagcgac	10	6	14	11	6	0	2	0	1	0	1	2	7	0	2	2	3	3	0	2	3	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:11565666G>A	ENST00000359227.3	-	7	1203	c.779C>T	c.(778-780)tCg>tTg	p.S260L	ELAVL3_ENST00000438662.2_Missense_Mutation_p.S253L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	260					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GGCGATCGGCGAGAACCTGGC	0.677																																																	0													107	120	116					19																	11565666		2201	4291	6492	SO:0001583	missense	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"RNA binding motif (RRM) containing"	3314	protein-coding gene	gene with protein product	"Hu antigen C", "paraneoplastic limbic encephalitis antigen 21", "paraneoplastic cerebellar degeneration-associated antigen", "ELAV-like protein 3"	603458	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.779C>T	19.37:g.11565666G>A	ENSP00000352162:p.Ser260Leu		Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.S260L	ENST00000359227.3	37	c.779	CCDS32912.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.263786	0.95399	.	.	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.09630	2.98;2.96	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.27205	0.0667	M	0.87456	2.885	0.80722	D	1	D;P	0.58620	0.983;0.934	P;P	0.48488	0.579;0.477	T	0.30475	-0.9977	10	0.66056	D	0.02	.	16.6509	0.85189	0.0:0.0:1.0:0.0	.	260;253	Q14576;Q14576-2	ELAV3_HUMAN;.	L	260;253	ENSP00000352162:S260L;ENSP00000390878:S253L	ENSP00000352162:S260L	S	-	2	0	ELAVL3	11426666	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.319000	0.96338	2.231000	0.72958	0.505000	0.49811	TCG	ELAVL3	-	tigrfam_ELAD_HUD_SF	ENSG00000196361		0.677	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	-	0	48	0	G	NM_001420		11565666	-1	tier1	-	no_errors	ENST00000359227	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	A	A	11565666	G	A	11565666	3	1	87	1	0	0	0	0	1	0	0	0	5067	1059	37	1	328	1	ELAVL3	19	11565666	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	233011	11565666	47563317	1741	24865											
NFIX	4784	genome.wustl.edu	37	chr19	13186359	13186359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccccagcaccaccaagCgccccaagtccatcgatgac	10	6	6	19	2	1	1	0	1	1	0	4	2	3	1	7	0	2	1	7	0	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13186359C>T	ENST00000592199.1	+	6	829	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	NFIX_ENST00000588228.1_Missense_Mutation_p.R230C|NFIX_ENST00000358552.3_Missense_Mutation_p.R276C|NFIX_ENST00000587760.1_Missense_Mutation_p.R269C|NFIX_ENST00000587260.1_Missense_Mutation_p.R276C|NFIX_ENST00000585575.1_Missense_Mutation_p.R269C|NFIX_ENST00000397661.2_Missense_Mutation_p.R277C|NFIX_ENST00000360105.4_Missense_Mutation_p.R280C			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	277					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCACCAAGCGCCCCAAGTC	0.582																																																	0													52	58	56					19																	13186359		2071	4212	6283	SO:0001583	missense	0			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.829C>T	19.37:g.13186359C>T	ENSP00000467512:p.Arg277Cys		B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.R269C	ENST00000592199.1	37	c.805		19	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642230	0.67244	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000358552	T;T	0.60672	0.17;0.17	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.66939	2.045	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.995;0.999;0.996	T	0.75144	-0.3421	10	0.87932	D	0	.	12.2351	0.54512	0.1709:0.8291:0.0:0.0	.	285;276;280;277;277	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	C	277;277;280;276	ENSP00000380781:R277C;ENSP00000351354:R276C	ENSP00000264825:R280C	R	+	1	0	NFIX	13047359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.378000	0.44309	2.440000	0.82611	0.561000	0.74099	CGC	NFIX	-	pfam_CTF/NFI	ENSG00000008441		0.582	NFIX-013	NOVEL	basic	protein_coding	NFIX	HGNC	protein_coding	OTTHUMT00000452763.1		0	72	0	C	NM_002501		13186359	1			no_errors	ENST00000585575	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	13186359	C	T	13186359	3	4	87	1	0	0	0	0	1	0	0	0	10413	768	27	1	851	1	NFIX	19	13186359	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1620693	13186359	45942624	1742	24866											
LYL1	4066	genome.wustl.edu	37	chr19	13211729	13211729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagagttgcagcagcGggggccgcagagtgcccagc	7	4	20	10	2	0	2	0	0	0	2	0	3	0	2	2	4	5	4	2	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13211729G>A	ENST00000264824.4	-	2	617	c.257C>T	c.(256-258)cCg>cTg	p.P86L		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	86					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			TTGCAGCAGCGGGGGCCGCAG	0.682			T	TRB@	T-ALL																																			Dom	yes		19	19p13.2-p13.1	4066	lymphoblastic leukemia derived sequence 1		L	0													11	14	13					19																	13211729		2128	4161	6289	SO:0001583	missense	0				CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"Basic helix-loop-helix proteins"	6734	protein-coding gene	gene with protein product		151440	"lymphoblastic leukemia derived sequence 1"			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.257C>T	19.37:g.13211729G>A	ENSP00000264824:p.Pro86Leu		O76102	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P86L	ENST00000264824.4	37	c.257	CCDS12292.1	19	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643200	0.29246	.	.	ENSG00000104903	ENST00000264824	D	0.97620	-4.46	4.67	3.63	0.41609	.	0.512108	0.17108	N	0.186704	D	0.92776	0.7703	L	0.29908	0.895	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	D	0.85884	0.1424	10	0.46703	T	0.11	-6.2484	8.3289	0.32173	0.1771:0.0:0.8229:0.0	.	86	P12980	LYL1_HUMAN	L	86	ENSP00000264824:P86L	ENSP00000264824:P86L	P	-	2	0	LYL1	13072729	0.998000	0.40836	0.228000	0.23943	0.460000	0.32559	3.035000	0.49759	2.139000	0.66308	0.555000	0.69702	CCG	LYL1	-	NULL	ENSG00000104903		0.682	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYL1	HGNC	protein_coding	OTTHUMT00000452827.1	-	0	57	0	G	NM_005583		13211729	-1	tier1	-	no_errors	ENST00000264824	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.171	A	A	13211729	G	A	13211729	3	1	87	1	0	0	0	0	1	0	0	0	9142	1116	39	1	597	1	LYL1	19	13211729	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	25370	13211729	45917254	1743	24867											
NACC1	112939	genome.wustl.edu	37	chr19	13246434	13246434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctgcatgcggaggaggCcccatcgtcggagccccaga	7	4	16	14	3	0	1	0	0	0	1	2	4	0	4	5	5	3	1	5	5	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13246434C>T	ENST00000292431.4	+	2	539	c.413C>T	c.(412-414)gCc>gTc	p.A138V		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	138					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCGGAGGAGGCCCCATCGTCG	0.677																																																	0													14	13	13					19																	13246434		2199	4296	6495	SO:0001583	missense	0			AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"BEN domain containing", "BTB/POZ domain containing"	20967	protein-coding gene	gene with protein product	"nucleus accumbens associated 1", "BEN domain containing 8"	610672	"BTB (POZ) domain containing 14B"	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.413C>T	19.37:g.13246434C>T	ENSP00000292431:p.Ala138Val			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A138V	ENST00000292431.4	37	c.413	CCDS12294.1	19	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317361	0.40996	.	.	ENSG00000160877	ENST00000292431	T	0.55760	0.5	4.95	4.95	0.65309	.	0.345506	0.30028	N	0.010600	T	0.47060	0.1425	L	0.42245	1.32	0.43480	D	0.995702	B	0.20671	0.047	B	0.19148	0.024	T	0.42699	-0.9436	10	0.46703	T	0.11	.	15.7612	0.78082	0.0:1.0:0.0:0.0	.	138	Q96RE7	NACC1_HUMAN	V	138	ENSP00000292431:A138V	ENSP00000292431:A138V	A	+	2	0	NACC1	13107434	0.905000	0.30787	0.998000	0.56505	0.271000	0.26615	1.382000	0.34374	2.302000	0.77476	0.456000	0.33151	GCC	NACC1	-	NULL	ENSG00000160877		0.677	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	HGNC	protein_coding	OTTHUMT00000452879.1	-	0	63	0	C	NM_052876		13246434	1	tier1	-	no_errors	ENST00000292431	ensembl	human	known	74_37	missense	16.67	35	7	SNP	1.000	T	T	13246434	C	T	13246434	3	4	87	1	0	0	0	0	1	0	0	0	10173	739	26	3	415	3	NACC1	19	13246434	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	34705	13246434	45882549	1744	24868											
MRI1	84245	genome.wustl.edu	37	chr19	13879210	13879210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgagcattgggaagagcatAccaggcagagggaactgcca	13	4	15	9	1	0	2	0	0	0	2	0	5	0	4	2	3	5	3	2	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:13879210A>G	ENST00000319545.8	+	3	466	c.409A>G	c.(409-411)Acc>Gcc	p.T137A	MRI1_ENST00000040663.6_Intron	NM_032285.2	NP_115661.1			methylthioribose-1-phosphate isomerase 1											breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						ggaagagcataccaggcagag	0.562																																																	0													42	38	40					19																	13879210		2110	4091	6201	SO:0001583	missense	0				CCDS12297.1, CCDS32923.1	19p13.13	2013-05-29	2013-05-29			ENSG00000037757	5.3.1.23		28469	protein-coding gene	gene with protein product	"mediator of RhoA-dependent invasion", "S-methyl-5-thioribose-1-phosphate isomerase 1"	615105	"methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)"			15215245, 19620624, 23124037	Standard	XR_244089		Approved	MGC3207, Ypr118w, mtnA, MRDI	uc002mxe.3	Q9BV20		ENST00000319545.8:c.409A>G	19.37:g.13879210A>G	ENSP00000314871:p.Thr137Ala			Missense_Mutation	SNP	pfam_IF-2B-related,tigrfam_Initiation_fac_2B_a/b/d	p.T137A	ENST00000319545.8	37	c.409	CCDS12297.1	19	.	.	.	.	.	.	.	.	.	.	A	0.011	-1.694638	0.00731	.	.	ENSG00000037757	ENST00000319545	T	0.28454	1.61	0.952	0.952	0.19584	.	.	.	.	.	T	0.39253	0.1071	.	.	.	0.09310	N	0.999997	P	0.49696	0.927	P	0.56563	0.801	T	0.17992	-1.0351	8	0.66056	D	0.02	.	4.1303	0.10146	1.0:0.0:0.0:0.0	.	137	Q9BV20-2	.	A	137	ENSP00000314871:T137A	ENSP00000314871:T137A	T	+	1	0	MRI1	13740210	0.000000	0.05858	0.006000	0.13384	0.038000	0.13279	-1.419000	0.02460	0.662000	0.31006	0.358000	0.22013	ACC	MRI1	-	NULL	ENSG00000037757		0.562	MRI1-001	KNOWN	basic|CCDS	protein_coding	MRI1	HGNC	protein_coding	OTTHUMT00000453422.1	-	0	60	0	A	NM_032285		13879210	1	tier1	-	no_errors	ENST00000319545	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.006	G	G	13879210	A	G	13879210	3	3	87	1	0	0	0	0	1	0	0	0	9808	391	14	4	599	4	MRI1	19	13879210	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	632776	13879210	45249773	1745	24869											
DCAF15	90379	genome.wustl.edu	37	chr19	14070191	14070191	+	Frame_Shift_Del	DEL	C	C	-																															gagacggcaccccgggacagCccccctgcctcggaggcacc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14070191delC	ENST00000254337.6	+	7	1140	c.1119delC	c.(1117-1119)agcfs	p.S373fs		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	373					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CCCGGGACAGCCCCCCTGCCT	0.682																																																	0													18	25	22					19																	14070191		2182	4274	6456	SO:0001589	frameshift_variant	0			BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"DDB1 and CUL4 associated factors"	25095	protein-coding gene	gene with protein product			"chromosome 19 open reading frame 72"	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1119delC	19.37:g.14070191delC	ENSP00000254337:p.Ser373fs		B3KS86|Q96DW0|Q9BU31	Frame_Shift_Del	DEL	NULL	p.P375fs	ENST00000254337.6	37	c.1119	CCDS32926.1	19																																																																																			DCAF15	-	NULL	ENSG00000132017		0.682	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF15	HGNC	protein_coding	OTTHUMT00000458099.1		0	50	0	C	NM_138353		14070191	1	tier1		no_errors	ENST00000254337	ensembl	human	known	74_37	frame_shift_del	10.87	41	5	DEL	0.970	-	-	14070191	C	-	14070191	7	5	87	1	0	1	0	1	0	0	0	0	4276	738	26	0	1145	0	DCAF15	19	14070191	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	190981	14070191	45058792	1746	24870											
RFX1	5989	genome.wustl.edu	37	chr19	14104410	14104410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggttggctgcgagggtgcGggtacagccgggagctccgt	4	7	19	11	5	0	0	0	0	0	0	1	2	1	1	3	5	5	4	3	5	1	2	rs376204922		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14104410G>A	ENST00000254325.4	-	2	480	c.246C>T	c.(244-246)ccC>ccT	p.P82P		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	82					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCGAGGGTGCGGGTACAGCCG	0.662																																																	0								G		0,4406		0,0,2203	44	36	38		246	-2.9	0.8	19		38	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RFX1	NM_002918.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		82/980	14104410	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"trans-acting regulatory factor 1", "enhancer factor C", "MHC class II regulatory factor RFX"	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.246C>T	19.37:g.14104410G>A				Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P82	ENST00000254325.4	37	c.246	CCDS12301.1	19																																																																																			RFX1	-	NULL	ENSG00000132005		0.662	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	-	0	100	0	G	NM_002918		14104410	-1	tier1	-	no_errors	ENST00000254325	ensembl	human	known	74_37	silent	24.49	73	24	SNP	0.363	A	A	14104410	G	A	14104410	2	1	87	1	0	0	0	0	0	0	0	1	13307	1103	39	1		1	RFX1	19	14104410	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	34219	14104410	45024573	1747	24871											
SAMD1	5566	genome.wustl.edu	37	chr19	14199586	14199586	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcagatggcttctctttgCgcccgggactgcatcaaaac	9	10	10	12	2	3	1	2	0	1	1	4	3	3	2	1	2	3	2	1	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14199586C>T	ENST00000308677.4	-	0	2677				SAMD1_ENST00000541938.1_5'Flank|C19orf67_ENST00000547589.1_5'Flank|SAMD1_ENST00000533683.2_Missense_Mutation_p.R346H|PRKACA_ENST00000350356.3_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CTTCTCTTTGCGCCCGGGACT	0.542																																																	0													44	48	47					19																	14199586		2076	4200	6276	SO:0001628	intergenic_variant	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14199586C>T			Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R346H	ENST00000308677.4	37	c.1037	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158606	0.78226	.	.	ENSG00000141858	ENST00000533683;ENST00000269724	T	0.44881	0.91	5.02	5.02	0.67125	.	0.217487	0.34802	N	0.003675	T	0.35068	0.0919	N	0.03608	-0.345	0.34904	D	0.74681	D	0.71674	0.998	P	0.57324	0.818	T	0.54925	-0.8220	10	0.49607	T	0.09	-16.6705	13.828	0.63361	0.0:1.0:0.0:0.0	.	346	E9PIW9	.	H	346;46	ENSP00000431971:R346H	ENSP00000269724:R46H	R	-	2	0	SAMD1	14060586	0.973000	0.33851	1.000000	0.80357	0.905000	0.53344	1.888000	0.39708	2.327000	0.79052	0.563000	0.77884	CGC	SAMD1	-	superfamily_SAM/pointed	ENSG00000141858		0.542	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD1	HGNC	protein_coding	OTTHUMT00000459004.1	-	0	68	0	C	NM_002730		14199586	-1	tier1	-	no_errors	ENST00000533683	ensembl	human	novel	74_37	missense	6.67	56	4	SNP	1.000	T	T	14199586	C	T	14199586	1	4	87	0	1	0	0	0	0	0	0	0	13859	768	27	1		1	SAMD1	19	14199586	IGR	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	95176	14199586	44929397	1748	24872											
LPHN1	22859	genome.wustl.edu	37	chr19	14288527	14288527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagctcccggcgcatcaGcccgaacgggagcccggccc	6	2	13	20	6	1	0	1	0	0	0	2	2	2	1	5	3	4	2	5	3	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14288527G>A	ENST00000340736.6	-	3	397	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	LPHN1_ENST00000361434.3_Silent_p.L34L	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	34					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGCGCATCAGCCCGAACGGG	0.682																																																	0													43	39	40					19																	14288527		2203	4299	6502	SO:0001819	synonymous_variant	0			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"-", "GPCR / Class B : Orphans"	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.100C>T	19.37:g.14288527G>A			Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.L34	ENST00000340736.6	37	c.100	CCDS32928.1	19																																																																																			LPHN1	-	NULL	ENSG00000072071		0.682	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	-	0	19	0	G	NM_014921		14288527	-1	tier1	-	no_errors	ENST00000340736	ensembl	human	known	74_37	silent	19.05	17	4	SNP	1.000	A	A	14288527	G	A	14288527	2	1	87	1	0	0	0	0	0	0	0	1	8950	962	34	3		3	LPHN1	19	14288527	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	88941	14288527	44840456	1749	24873											
GIPC1	10755	genome.wustl.edu	37	chr19	14591506	14591506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgccccttcacgtgggCgaagatgaagtcctccagcc	7	7	12	15	3	1	2	1	1	0	1	3	3	3	2	5	1	2	1	5	1	2	1	rs370004452		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14591506C>T	ENST00000393033.4	-	5	642	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	GIPC1_ENST00000586027.1_Missense_Mutation_p.A125T|GIPC1_ENST00000393029.3_Missense_Mutation_p.A28T|GIPC1_ENST00000345425.2_Missense_Mutation_p.A125T|GIPC1_ENST00000393028.1_Missense_Mutation_p.A28T|GIPC1_ENST00000591349.1_Missense_Mutation_p.A28T	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	125					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTCACGTGGGCGAAGATGAAG	0.607											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)												0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	140	117	125		373,82,373,82,373,82	4.4	1	19		125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	GIPC1	NM_005716.2,NM_202467.1,NM_202468.1,NM_202469.1,NM_202470.1,NM_202494.1	58,58,58,58,58,58	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	125/334,28/237,125/334,28/237,125/334,28/237	14591506	2,13004	2203	4300	6503	SO:0001583	missense	0			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.373G>A	19.37:g.14591506C>T	ENSP00000376753:p.Ala125Thr	696	A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.A125T	ENST00000393033.4	37	c.373	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.237090	0.95240	2.27E-4	1.16E-4	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.36	4.36	0.52297	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.59197	0.2176	M	0.89095	3.005	0.80722	D	1	D	0.62365	0.991	P	0.50049	0.629	T	0.71244	-0.4650	10	0.72032	D	0.01	-5.534	14.7278	0.69357	0.0:1.0:0.0:0.0	.	125	O14908	GIPC1_HUMAN	T	125;125;28;28;125	ENSP00000376753:A125T;ENSP00000340698:A125T;ENSP00000376749:A28T;ENSP00000376748:A28T	ENSP00000340698:A125T	A	-	1	0	GIPC1	14452506	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	7.195000	0.77798	2.161000	0.67846	0.561000	0.74099	GCC	GIPC1	-	superfamily_PDZ,pirsf_UCP038083_PDZ	ENSG00000123159		0.607	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	-	0	53	0	C			14591506	-1	tier1	-	no_errors	ENST00000345425	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	T	T	14591506	C	T	14591506	3	4	87	1	0	0	0	0	1	0	0	0	6418	768	27	1	648	1	GIPC1	19	14591506	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	302979	14591506	44537477	1750	24874											
GIPC1	10755	genome.wustl.edu	37	chr19	14593518	14593518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctcggcagttggcaggcGgaaggcctcggcgatcttgc	6	8	15	12	4	1	0	0	0	1	0	3	2	1	1	2	6	2	3	2	6	2	3	rs146515353	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14593518G>A	ENST00000393033.4	-	4	540	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	GIPC1_ENST00000586027.1_Missense_Mutation_p.R91C|GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000345425.2_Missense_Mutation_p.R91C|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000591349.1_Intron	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	91					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GTTGGCAGGCGGAAGGCCTCG	0.647																																					Pancreas(33;78 923 2910 41023 52850)												0								G	CYS/ARG,,CYS/ARG,,CYS/ARG,	1,4405	2.1+/-5.4	0,1,2202	45	36	39		271,,271,,271,	4.7	1	19	dbSNP_134	39	3,8597	3.0+/-9.4	0,3,4297	yes	missense,intron,missense,intron,missense,intron	GIPC1	NM_005716.2,NM_202467.1,NM_202468.1,NM_202469.1,NM_202470.1,NM_202494.1	180,,180,,180,	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign,,benign,,benign,	91/334,,91/334,,91/334,	14593518	4,13002	2203	4300	6503	SO:0001583	missense	0			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"chromosome 19 open reading frame 3", "regulator of G-protein signalling 19 interacting protein 1"	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.271C>T	19.37:g.14593518G>A	ENSP00000376753:p.Arg91Cys		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.R91C	ENST00000393033.4	37	c.271	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	G	13.94	2.385552	0.42308	2.27E-4	3.49E-4	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000351277	D;D	0.81579	-1.51;-1.51	4.65	4.65	0.58169	.	0.339438	0.28996	N	0.013461	T	0.70911	0.3278	L	0.44542	1.39	0.80722	D	1	B	0.31290	0.318	B	0.20577	0.03	T	0.73084	-0.4094	10	0.66056	D	0.02	-17.2107	10.6018	0.45371	0.0:0.0:0.8074:0.1926	.	91	O14908	GIPC1_HUMAN	C	91	ENSP00000376753:R91C;ENSP00000340698:R91C	ENSP00000340698:R91C	R	-	1	0	GIPC1	14454518	0.794000	0.28838	1.000000	0.80357	0.996000	0.88848	1.131000	0.31406	2.300000	0.77407	0.561000	0.74099	CGC	GIPC1	-	pirsf_UCP038083_PDZ	ENSG00000123159		0.647	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2		0	27	0	G			14593518	-1			no_errors	ENST00000345425	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	A	A	14593518	G	A	14593518	3	1	87	1	0	0	0	0	1	0	0	0	6418	1116	39	1	754	1	GIPC1	19	14593518	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2012	14593518	44535465	1751	24875											
OR7A17	26333	genome.wustl.edu	37	chr19	14991541	14991541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggatccccacaaggggAccaccagccagcagccctgc	12	2	10	17	0	0	0	0	0	0	0	1	2	1	2	6	3	4	1	6	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:14991541A>G	ENST00000327462.2	-	1	723	c.627T>C	c.(625-627)ggT>ggC	p.G209G		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CCACAAGGGGACCACCAGCCA	0.473																																																	0													73	73	73					19																	14991541		2203	4300	6503	SO:0001819	synonymous_variant	0			X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"GPCR / Class A : Olfactory receptors"	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.627T>C	19.37:g.14991541A>G			Q6IFQ6|Q96R98	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G209	ENST00000327462.2	37	c.627	CCDS12319.1	19																																																																																			OR7A17	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185385		0.473	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A17	HGNC	protein_coding	OTTHUMT00000466523.1	-	0	66	0	A	NM_030901		14991541	-1	tier1	-	no_errors	ENST00000327462	ensembl	human	known	74_37	silent	33.33	32	16	SNP	0.000	G	G	14991541	A	G	14991541	2	3	87	1	0	0	0	0	0	0	0	1	11254	262	10	4		4	OR7A17	19	14991541	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	398023	14991541	44137442	1752	24876											
SLC1A6	6511	genome.wustl.edu	37	chr19	15067364	15067364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggttccggtgagtgaCgaggaagtagatgaggggaa	12	6	20	3	2	0	4	0	3	0	1	1	8	1	6	1	6	0	2	1	6	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15067364C>T	ENST00000221742.3	-	6	1100	c.1093G>A	c.(1093-1095)Gtc>Atc	p.V365I	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000430939.2_Missense_Mutation_p.V301I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	365					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CGGTGAGTGACGAGGAAGTAG	0.617																																																	0													172	134	147					19																	15067364		2203	4300	6503	SO:0001583	missense	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1093G>A	19.37:g.15067364C>T	ENSP00000221742:p.Val365Ile		Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V365I	ENST00000221742.3	37	c.1093	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	c	2.021	-0.424764	0.04734	.	.	ENSG00000105143	ENST00000430939;ENST00000221742	T;T	0.58652	0.32;0.32	3.96	-1.06	0.10002	.	0.403999	0.26658	N	0.023178	T	0.29817	0.0745	N	0.05330	-0.07	0.80722	D	1	B;B	0.27853	0.191;0.007	B;B	0.31614	0.133;0.004	T	0.20140	-1.0284	10	0.06236	T	0.91	-11.0254	11.0045	0.47626	0.0:0.7689:0.0:0.2311	.	301;365	E7EV13;P48664	.;EAA4_HUMAN	I	301;365	ENSP00000409386:V301I;ENSP00000221742:V365I	ENSP00000221742:V365I	V	-	1	0	SLC1A6	14928364	0.003000	0.15002	0.925000	0.36789	0.931000	0.56810	0.028000	0.13644	-0.385000	0.07833	-1.397000	0.01146	GTC	SLC1A6	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	ENSG00000105143		0.617	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	-	0	70	0	C	NM_005071		15067364	-1	tier1	-	no_errors	ENST00000221742	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.984	T	T	15067364	C	T	15067364	3	4	87	1	0	0	0	0	1	0	0	0	14481	536	19	1	617	1	SLC1A6	19	15067364	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	75823	15067364	44061619	1753	24877											
SYDE1	85360	genome.wustl.edu	37	chr19	15218306	15218306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggagaaacttccccGgaaaaagtcggacgccaagg	12	3	15	11	4	0	1	0	0	0	1	2	4	1	3	4	5	1	0	4	5	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15218306G>A	ENST00000342784.2	+	1	93	c.62G>A	c.(61-63)cGg>cAg	p.R21Q	SYDE1_ENST00000600440.1_Missense_Mutation_p.R21Q|SYDE1_ENST00000600252.1_5'Flank	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	21					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AAACTTCCCCGGAAAAAGTCG	0.741																																																	0													5	6	5					19																	15218306		1975	3867	5842	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.62G>A	19.37:g.15218306G>A	ENSP00000341489:p.Arg21Gln		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R21Q	ENST00000342784.2	37	c.62	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.235517	0.95240	.	.	ENSG00000105137	ENST00000342784	T	0.12672	2.66	3.73	3.73	0.42828	.	0.315387	0.21020	U	0.081538	T	0.26774	0.0655	L	0.44542	1.39	0.31982	N	0.605727	D;D	0.71674	0.998;0.997	D;D	0.72982	0.979;0.953	T	0.14952	-1.0454	10	0.66056	D	0.02	.	11.0088	0.47651	0.0:0.0:1.0:0.0	.	21;21	Q6ZW31-2;Q6ZW31	.;SYDE1_HUMAN	Q	21	ENSP00000341489:R21Q	ENSP00000341489:R21Q	R	+	2	0	SYDE1	15079306	1.000000	0.71417	0.980000	0.43619	0.986000	0.74619	4.483000	0.60264	1.635000	0.50512	0.393000	0.25936	CGG	SYDE1	-	NULL	ENSG00000105137		0.741	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	-	0	18	0	G	NM_033025		15218306	1	tier1	-	no_errors	ENST00000342784	ensembl	human	known	74_37	missense	33.33	10	5	SNP	1.000	A	A	15218306	G	A	15218306	3	1	87	1	0	0	0	0	1	0	0	0	15482	1116	39	1	64	1	SYDE1	19	15218306	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	150942	15218306	43910677	1754	24878											
SYDE1	85360	genome.wustl.edu	37	chr19	15224472	15224472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaccccgaagtggtgactCggccccgcggtcgaggaggc	7	4	16	14	5	0	2	0	1	0	1	2	5	0	3	4	5	0	0	4	5	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15224472C>T	ENST00000342784.2	+	8	1937	c.1906C>T	c.(1906-1908)Cgg>Tgg	p.R636W	SYDE1_ENST00000600440.1_Missense_Mutation_p.R569W|SYDE1_ENST00000600252.1_Missense_Mutation_p.R293W	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	636					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGTGGTGACTCGGCCCCGCGG	0.687																																																	0													50	62	58					19																	15224472		2203	4298	6501	SO:0001583	missense	0			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1906C>T	19.37:g.15224472C>T	ENSP00000341489:p.Arg636Trp		Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R636W	ENST00000342784.2	37	c.1906	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943034	0.53079	.	.	ENSG00000105137	ENST00000342784	T	0.52983	0.64	5.52	1.94	0.25998	.	0.275476	0.30593	N	0.009294	T	0.62877	0.2464	M	0.75777	2.31	0.29480	N	0.856381	D;D;D	0.76494	0.999;0.999;0.999	D;P;D	0.65010	0.931;0.804;0.931	T	0.61946	-0.6958	10	0.72032	D	0.01	.	11.1254	0.48315	0.435:0.565:0.0:0.0	.	569;569;636	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	W	636	ENSP00000341489:R636W	ENSP00000341489:R636W	R	+	1	2	SYDE1	15085472	0.125000	0.22332	0.993000	0.49108	0.173000	0.22820	1.064000	0.30579	0.660000	0.30964	0.491000	0.48974	CGG	SYDE1	-	NULL	ENSG00000105137		0.687	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	-	0	51	0	C	NM_033025		15224472	1	tier1	-	no_errors	ENST00000342784	ensembl	human	known	74_37	missense	21.05	29	8	SNP	0.946	T	T	15224472	C	T	15224472	3	4	87	1	0	0	0	0	1	0	0	0	15482	875	31	1	1936	1	SYDE1	19	15224472	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	6166	15224472	43904511	1755	24879											
PGLYRP2	114770	genome.wustl.edu	37	chr19	15587229	15587229	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacagctctgggcttagtggGcagggatccaactctgtagc	9	9	13	10	0	2	0	0	0	2	0	3	1	3	1	1	3	4	4	1	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15587229G>A	ENST00000340880.4	-	2	732	c.252C>T	c.(250-252)tgC>tgT	p.C84C	PGLYRP2_ENST00000292609.4_Silent_p.C84C	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	84					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGCTTAGTGGGCAGGGATCCA	0.592																																																	0													127	88	101					19																	15587229		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"peptidoglycan recognition protein L precursor", "peptidoglycan recognition protein-like", "N-acetylmuramoyl-L-alanine amidase"	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.252C>T	19.37:g.15587229G>A			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.C84	ENST00000340880.4	37	c.252	CCDS12330.2	19																																																																																			PGLYRP2	-	NULL	ENSG00000161031		0.592	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	-	0	63	0	G	NM_052890		15587229	-1	tier1	-	no_errors	ENST00000292609	ensembl	human	known	74_37	silent	16.28	36	7	SNP	0.000	A	A	15587229	G	A	15587229	2	1	87	1	0	0	0	0	0	0	0	1	11833	1195	42	3		3	PGLYRP2	19	15587229	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	362757	15587229	43541754	1756	24880											
OR10H2	26538	genome.wustl.edu	37	chr19	15838913	15838913	+	Frame_Shift_Del	DEL	C	C	-																															ctcgtcggcttctctgccttCccccacctccaactgatgct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15838913delC	ENST00000305899.3	+	1	80	c.60delC	c.(58-60)ttcfs	p.F20fs		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCTCTGCCTTCCCCCACCTCC	0.577																																																	0													280	242	255					19																	15838913		2203	4300	6503	SO:0001589	frameshift_variant	0			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"GPCR / Class A : Olfactory receptors"	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.60delC	19.37:g.15838913delC	ENSP00000306095:p.Phe20fs		Q6IFQ1|Q96R58	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H22fs	ENST00000305899.3	37	c.60	CCDS12333.1	19																																																																																			OR10H2	-	NULL	ENSG00000171942		0.577	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1		0	106	0	C			15838913	1	tier1		no_errors	ENST00000305899	ensembl	human	known	74_37	frame_shift_del	11.63	76	10	DEL	0.982	-	-	15838913	C	-	15838913	7	5	87	1	0	1	0	1	0	0	0	0	10945	854	30	0	62	0	OR10H2	19	15838913	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	251684	15838913	43290070	1757	24881											
OR10H3	26532	genome.wustl.edu	37	chr19	15852911	15852911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttctgctgagggccggCacaagactttctccacttgt	6	13	9	13	1	2	2	0	1	2	1	4	2	3	2	3	2	1	2	3	2	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15852911C>T	ENST00000305892.1	+	1	709	c.709C>T	c.(709-711)Cac>Tac	p.H237Y		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGAGGGCCGGCACAAGACTTT	0.502																																																	0													217	192	200					19																	15852911		2203	4300	6503	SO:0001583	missense	0				CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"GPCR / Class A : Olfactory receptors"	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.709C>T	19.37:g.15852911C>T	ENSP00000307130:p.His237Tyr		Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H237Y	ENST00000305892.1	37	c.709	CCDS12334.1	19	.	.	.	.	.	.	.	.	.	.	.	1.633	-0.518592	0.04171	.	.	ENSG00000171936	ENST00000305892	T	0.00207	8.55	2.37	1.31	0.21738	GPCR, rhodopsin-like superfamily (1);	0.175905	0.27113	U	0.020878	T	0.00178	0.0005	N	0.26130	0.795	0.09310	N	0.999999	D	0.63880	0.993	P	0.59825	0.864	T	0.55023	-0.8205	10	0.21014	T	0.42	.	3.7319	0.08496	0.0:0.6445:0.0:0.3555	.	237	O60404	O10H3_HUMAN	Y	237	ENSP00000307130:H237Y	ENSP00000307130:H237Y	H	+	1	0	OR10H3	15713911	0.000000	0.05858	0.577000	0.28562	0.071000	0.16799	0.085000	0.14912	1.330000	0.45394	0.205000	0.17691	CAC	OR10H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171936		0.502	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H3	HGNC	protein_coding	OTTHUMT00000460918.1	-	0	74	0	C			15852911	1	tier1	-	no_errors	ENST00000305892	ensembl	human	known	74_37	missense	13.85	56	9	SNP	0.223	T	T	15852911	C	T	15852911	3	4	87	1	0	0	0	0	1	0	0	0	10946	710	25	3	711	3	OR10H3	19	15852911	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	13998	15852911	43276072	1758	24882											
OR10H5	284433	genome.wustl.edu	37	chr19	15904918	15904918	+	Frame_Shift_Del	DEL	C	C	-																															ctcgttggcttctctgccttCccccacctccagctgatgct																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:15904918delC	ENST00000308940.8	+	1	158	c.60delC	c.(58-60)ttcfs	p.F20fs		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCTCTGCCTTCCCCCACCTCC	0.582																																																	0													248	207	221					19																	15904918		2203	4300	6503	SO:0001589	frameshift_variant	0			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"GPCR / Class A : Olfactory receptors"	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.60delC	19.37:g.15904918delC	ENSP00000310704:p.Phe20fs		Q6IFJ0|Q96R60	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H22fs	ENST00000308940.8	37	c.60	CCDS32940.1	19																																																																																			OR10H5	-	NULL	ENSG00000172519		0.582	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1		0	94	0	C			15904918	1	tier1		no_errors	ENST00000308940	ensembl	human	known	74_37	frame_shift_del	12.05	73	10	DEL	0.994	-	-	15904918	C	-	15904918	7	5	87	1	0	1	0	1	0	0	0	0	10948	854	30	0	62	0	OR10H5	19	15904918	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	52007	15904918	43224065	1759	24883											
NWD1	284434	genome.wustl.edu	37	chr19	16910773	16910773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgagcctgctggcccGcggcggggctttggtggcat	2	8	17	14	4	0	1	0	1	0	0	0	1	0	1	4	6	2	3	4	6	0	1	rs150409927		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:16910773G>A	ENST00000552788.1	+	15	3536	c.3536G>A	c.(3535-3537)cGc>cAc	p.R1179H	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000339803.6_Missense_Mutation_p.R1044H|NWD1_ENST00000524140.2_Missense_Mutation_p.R1179H|NWD1_ENST00000549814.1_Intron|NWD1_ENST00000523826.1_Missense_Mutation_p.R973H|NWD1_ENST00000379808.3_Missense_Mutation_p.R1179H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1179							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGCTGGCCCGCGGCGGGGCT	0.622																																																	0								G	HIS/ARG	0,4406		0,0,2203	43	45	44		3536	-3.1	0	19	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	1179/1433	16910773	1,13005	2203	4300	6503	SO:0001583	missense	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3536G>A	19.37:g.16910773G>A	ENSP00000447224:p.Arg1179His		C9J021|Q68CT3	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1179H	ENST00000552788.1	37	c.3536		19	.	.	.	.	.	.	.	.	.	.	G	0.542	-0.853183	0.02630	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T	0.65364	-0.15;-0.15;2.24;1.56;2.24	4.63	-3.14	0.05250	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.406430	0.04435	N	0.369929	T	0.40473	0.1118	L	0.43152	1.355	0.09310	N	1	P;B;B	0.39940	0.696;0.001;0.001	B;B;B	0.29942	0.109;0.001;0.0	T	0.25950	-1.0117	10	0.15066	T	0.55	-10.3331	1.0577	0.01593	0.3308:0.2627:0.2725:0.134	.	1179;1179;1044	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	1044;1179;1179;973;1179;1044	ENSP00000428579:R1179H;ENSP00000369136:R1179H;ENSP00000428955:R973H;ENSP00000447224:R1179H;ENSP00000340159:R1044H	ENSP00000340159:R1044H	R	+	2	0	NWD1	16771773	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.044000	0.12023	-0.629000	0.05575	-0.818000	0.03119	CGC	NWD1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000188039		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0	37	0	G	NM_001007525		16910773	1	tier1	rs150409927	no_errors	ENST00000379808	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	A	A	16910773	G	A	16910773	3	1	87	1	0	0	0	0	1	0	0	0	10820	1087	38	1	3181	1	NWD1	19	16910773	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1005855	16910773	42218210	1760	24884											
CPAMD8	27151	genome.wustl.edu	37	chr19	17062998	17062998	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacactgagtgtcccctcAccagatgggtcactgcggag	8	9	11	13	1	3	2	3	1	0	1	4	3	4	3	3	2	1	0	3	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:17062998A>G	ENST00000443236.1	-	20	2461	c.2430T>C	c.(2428-2430)ggT>ggC	p.G810G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	763						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTCCCCTCACCAGATGGGT	0.657																																																	0													10	11	11					19																	17062998		1872	3808	5680	SO:0001819	synonymous_variant	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2430T>C	19.37:g.17062998A>G			Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.G810	ENST00000443236.1	37	c.2430	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	a	7.909	0.736121	0.15574	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.27	-3.32	0.04973	.	.	.	.	.	T	0.36717	0.0977	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38585	-0.9654	4	.	.	.	.	0.69	0.00890	0.2761:0.3189:0.1409:0.2641	.	.	.	.	A	821	.	.	V	-	2	0	CPAMD8	16923998	0.689000	0.27690	0.115000	0.21578	0.847000	0.48162	-0.472000	0.06623	-0.119000	0.11830	0.398000	0.26397	GTG	CPAMD8	-	pfam_Macroglobln_a2	ENSG00000160111		0.657	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0	41	0	A	NM_015692		17062998	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	silent	46.43	15	13	SNP	0.846	G	G	17062998	A	G	17062998	2	3	87	1	0	0	0	0	0	0	0	1	3802	146	6	4		4	CPAMD8	19	17062998	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	152225	17062998	42065985	1761	24885											
MYO9B	4650	genome.wustl.edu	37	chr19	17312772	17312772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagacgcccattgagaGcttgtttatcgaagccaccg	11	8	10	12	3	0	3	0	1	0	3	1	5	0	3	4	0	2	2	4	0	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:17312772G>A	ENST00000594824.1	+	27	4748	c.4601G>A	c.(4600-4602)aGc>aAc	p.S1534N	MYO9B_ENST00000397274.2_Missense_Mutation_p.S1534N|MYO9B_ENST00000595618.1_Missense_Mutation_p.S1534N			Q13459	MYO9B_HUMAN	myosin IXB	1534	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCCATTGAGAGCTTGTTTATC	0.577																																																	0													70	72	71					19																	17312772		1969	4163	6132	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4601G>A	19.37:g.17312772G>A	ENSP00000471367:p.Ser1534Asn		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.S1534N	ENST00000594824.1	37	c.4601		19	.	.	.	.	.	.	.	.	.	.	G	9.082	0.999657	0.19121	.	.	ENSG00000099331	ENST00000397274	D	0.84442	-1.85	4.82	3.7	0.42460	.	0.195564	0.35838	N	0.002945	T	0.81288	0.4791	L	0.40543	1.245	0.27470	N	0.952891	P;D;P;P	0.53619	0.936;0.961;0.936;0.934	B;P;B;P	0.52909	0.412;0.713;0.412;0.521	T	0.70644	-0.4815	10	0.17369	T	0.5	.	6.7886	0.23687	0.0898:0.0:0.7334:0.1768	.	1534;1534;1534;1540	Q13459;Q13459-2;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.;.	N	1534	ENSP00000380444:S1534N	ENSP00000380444:S1534N	S	+	2	0	MYO9B	17173772	0.995000	0.38212	0.979000	0.43373	0.213000	0.24496	1.788000	0.38714	2.226000	0.72624	0.491000	0.48974	AGC	MYO9B	-	NULL	ENSG00000099331		0.577	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0	24	0	G			17312772	1			no_errors	ENST00000594824	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.983	A	A	17312772	G	A	17312772	3	1	87	1	0	0	0	0	1	0	0	0	10123	971	34	3	4703	3	MYO9B	19	17312772	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	249774	17312772	41816211	1762	24886											
ANO8	57719	genome.wustl.edu	37	chr19	17443959	17443961	+	In_Frame_Del	DEL	TCC	TCC	-																															ccacattctcatagataaagTcctcctcgcaggagaagccg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:17443959_17443961delTCC	ENST00000159087.4	-	4	596_598	c.438_440delGGA	c.(436-441)gaggac>gac	p.E146del	GTPBP3_ENST00000361619.5_5'Flank	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	146					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ATAGATAAAGTCCTCCTCGCAGG	0.626																																																	0																																										SO:0001651	inframe_deletion	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	29329	protein-coding gene	gene with protein product		610216	"KIAA1623", "transmembrane protein 16H"	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.438_440delGGA	19.37:g.17443962_17443964delTCC	ENSP00000159087:p.Glu146del		A6NIJ0	In_Frame_Del	DEL	pfam_Anoctamin	p.E146in_frame_del	ENST00000159087.4	37	c.440_438	CCDS32949.1	19																																																																																			ANO8	-	NULL	ENSG00000074855		0.626	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1		0	43	0	TCC	XM_050644		17443961	-1	tier1		no_errors	ENST00000159087	ensembl	human	known	74_37	in_frame_del	20.45	35	9	DEL	1.000:1.000:1.000	-	-	17443961	TCC	-	17443959	7	5	87	1	0	1	0	1	0	0	0	0	703	1667	58	0	3318	0	ANO8	19	17443959	In_Frame_Del	DEL	TCC	TCGA-L5-A8NM-01A-11D-A37C-09	131187	17443959	41685024	1763	24887											
PIK3R2	5296	genome.wustl.edu	37	chr19	18271903	18271903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatcagtgggacacggcagCcctggctgacggcattaaga	10	6	15	10	2	1	2	1	1	0	1	1	4	1	4	1	5	1	3	1	5	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:18271903C>T	ENST00000593731.1	+	5	1066	c.506C>T	c.(505-507)gCc>gTc	p.A169V	PIK3R2_ENST00000222254.8_Missense_Mutation_p.A169V			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	169	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GACACGGCAGCCCTGGCTGAC	0.711																																																	0													19	21	20					19																	18271903		2197	4299	6496	SO:0001583	missense	0				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"SH2 domain containing"	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.506C>T	19.37:g.18271903C>T	ENSP00000471914:p.Ala169Val		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.A169V	ENST00000593731.1	37	c.506	CCDS12371.1	19	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327073	0.10900	.	.	ENSG00000105647	ENST00000222254	T	0.18338	2.22	4.82	4.82	0.62117	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.394188	0.27618	N	0.018572	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.22068	-1.0227	10	0.20519	T	0.43	-14.8689	15.4417	0.75187	0.0:1.0:0.0:0.0	.	169	O00459	P85B_HUMAN	V	169	ENSP00000222254:A169V	ENSP00000222254:A169V	A	+	2	0	PIK3R2	18132903	0.007000	0.16637	0.005000	0.12908	0.004000	0.04260	1.744000	0.38268	2.398000	0.81561	0.555000	0.69702	GCC	PIK3R2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000105647		0.711	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	-	0	53	0	C	NM_005027		18271903	1	tier1	-	no_errors	ENST00000222254	ensembl	human	known	74_37	missense	21.82	43	12	SNP	0.018	T	T	18271903	C	T	18271903	3	4	87	1	0	0	0	0	1	0	0	0	11958	739	26	3	520	3	PIK3R2	19	18271903	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	827944	18271903	40857080	1764	24888											
MPV17L2	84769	genome.wustl.edu	37	chr19	18305819	18305819	+	Frame_Shift_Del	DEL	C	C	-																															tcgtgaacttcctcttcgtgCccccccaatttcgagtcacc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:18305819delC	ENST00000599612.2	+	4	587	c.487delC	c.(487-489)cccfs	p.P164fs		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	164						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						CCTCTTCGTGCCCCCCCAATT	0.652																																																	0													114	114	114					19																	18305819		2081	4206	6287	SO:0001589	frameshift_variant	0			AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.487delC	19.37:g.18305819delC	ENSP00000469836:p.Pro164fs		Q96P34|Q96QA0|Q9BSG4	Frame_Shift_Del	DEL	pfam_Mpv17_PMP22	p.Q165fs	ENST00000599612.2	37	c.487	CCDS42522.1	19																																																																																			MPV17L2	-	pfam_Mpv17_PMP22	ENSG00000254858		0.652	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17L2	HGNC	protein_coding	OTTHUMT00000466294.2		0	90	0	C	NM_032683		18305819	1			no_errors	ENST00000599612	ensembl	human	known	74_37	frame_shift_del	9.52	76	8	DEL	1.000	0	-	18305819	C	-	18305819	7	5	87	1	0	1	0	1	0	0	0	0	9785	739	26	0	501	0	MPV17L2	19	18305819	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	33916	18305819	40823164	1765	24889											
KIAA0892	23383	genome.wustl.edu	37	chr19	19456168	19456168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaagcccagttcaccaCggccctgcgggtaaggtgcc	7	5	14	15	4	1	0	1	0	0	0	1	1	1	1	4	4	3	2	4	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:19456168C>T	ENST00000392313.6	+	12	1390	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	MAU2_ENST00000262815.8_Missense_Mutation_p.T404M	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	404					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CAGTTCACCACGGCCCTGCGG	0.647																																																	0													112	97	102					19																	19456168		2203	4300	6503	SO:0001583	missense	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1211C>T	19.37:g.19456168C>T	ENSP00000376127:p.Thr404Met		Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	pfam_Cohesin_loading_factor,smart_TPR_repeat	p.T404M	ENST00000392313.6	37	c.1211	CCDS32969.2	19	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532665	0.85812	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.63417	-0.04;-0.04	5.25	5.25	0.73442	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	N	0.22421	0.69	0.80722	D	1	D;P	0.89917	1.0;0.916	D;P	0.70227	0.968;0.671	T	0.70139	-0.4954	10	0.48119	T	0.1	.	17.3976	0.87450	0.0:1.0:0.0:0.0	.	10;404	Q9Y6X3-2;Q9Y6X3	.;SCC4_HUMAN	M	404	ENSP00000376127:T404M;ENSP00000262815:T404M	ENSP00000262815:T404M	T	+	2	0	MAU2	19317168	1.000000	0.71417	0.989000	0.46669	0.773000	0.43773	7.512000	0.81728	2.462000	0.83206	0.561000	0.74099	ACG	MAU2	-	pfam_Cohesin_loading_factor,smart_TPR_repeat	ENSG00000129933		0.647	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAU2	HGNC	protein_coding	OTTHUMT00000316748.6	-	0	93	0	C	NM_015329		19456168	1	tier1	-	no_errors	ENST00000262815	ensembl	human	known	74_37	missense	24.69	61	20	SNP	1.000	T	T	19456168	C	T	19456168	3	4	87	1	0	0	0	0	1	0	0	0	8223	536	19	1	1257	1	KIAA0892	19	19456168	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1150349	19456168	39672815	1766	24890											
ZNF85	7639	genome.wustl.edu	37	chr19	21131730	21131730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaatggacttaaccaatGtctcacagctacccagagca	13	10	7	11	0	1	1	1	0	1	1	2	2	1	2	2	1	4	3	2	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:21131730G>A	ENST00000328178.8	+	4	523	c.410G>A	c.(409-411)tGt>tAt	p.C137Y	ZNF85_ENST00000345030.6_Missense_Mutation_p.C104Y|ZNF85_ENST00000601023.1_Missense_Mutation_p.C78Y	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	137					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTAACCAATGTCTCACAGCT	0.323																																																	0													66	69	68					19																	21131730		2203	4300	6503	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"Zinc fingers, C2H2-type", "-"	13160	protein-coding gene	gene with protein product		603899	"zinc finger protein 85 (HPF4, HTF1)"			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.410G>A	19.37:g.21131730G>A	ENSP00000329793:p.Cys137Tyr		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C137Y	ENST00000328178.8	37	c.410	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	3.111	-0.182679	0.06340	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05649	3.53;3.41	1.23	-1.89	0.07689	.	.	.	.	.	T	0.13841	0.0335	M	0.79805	2.47	0.09310	N	1	D;D;D	0.89917	1.0;0.98;0.993	D;D;P	0.79108	0.992;0.962;0.885	T	0.38243	-0.9670	9	0.06494	T	0.89	.	0.2479	0.00201	0.217:0.2533:0.2746:0.2551	.	104;78;137	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	Y	137;104;12	ENSP00000329793:C137Y;ENSP00000342340:C104Y	ENSP00000329793:C137Y	C	+	2	0	ZNF85	20923570	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-0.062000	0.11674	-0.274000	0.09232	0.455000	0.32223	TGT	ZNF85	-	NULL	ENSG00000105750		0.323	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	-	0	55	0	G	NM_003429		21131730	1	tier1	-	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	18.75	39	9	SNP	0.000	A	A	21131730	G	A	21131730	3	1	87	1	0	0	0	0	1	0	0	0	18241	1377	48	3	424	3	ZNF85	19	21131730	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1675562	21131730	37997253	1767	24891											
ZNF714	148206	genome.wustl.edu	37	chr19	21300892	21300892	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaaacataacataattcaTactggagagaaatcttacaa	20	10	4	7	0	2	1	1	0	1	1	2	3	2	2	0	1	4	0	0	1	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:21300892T>C	ENST00000596143.1	+	5	1747	c.1422T>C	c.(1420-1422)caT>caC	p.H474H	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACATAATTCATACTGGAGAGA	0.383																																																	0																																										SO:0001819	synonymous_variant	0			AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"Zinc fingers, C2H2-type"	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.1422T>C	19.37:g.21300892T>C			Q49AI1|Q86W65|Q8ND40	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H474	ENST00000596143.1	37	c.1422	CCDS54239.1	19																																																																																			ZNF714	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160352		0.383	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF714	HGNC	protein_coding	OTTHUMT00000463930.1	-	0	48	0	T	NM_182515		21300892	1	tier1	-	no_errors	ENST00000596143	ensembl	human	known	74_37	silent	43.59	22	17	SNP	1.000	C	C	21300892	T	C	21300892	2	2	87	1	0	0	0	0	0	0	0	1	18166	1403	49	4		4	ZNF714	19	21300892	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	169162	21300892	37828091	1768	24892											
ZNF208	7757	genome.wustl.edu	37	chr19	22156673	22156673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccagtatgaattttcTtatgataactaagggttgag	11	16	8	6	0	2	3	0	3	2	0	4	3	3	3	1	1	1	2	1	1	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:22156673T>C	ENST00000397126.4	-	4	1311	c.1163A>G	c.(1162-1164)aAg>aGg	p.K388R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATGAATTTTCTTATGATAACT	0.373																																																	0													33	37	36					19																	22156673		1991	4190	6181	SO:0001583	missense	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"Zinc fingers, C2H2-type", "-"	12999	protein-coding gene	gene with protein product	"zinc finger protein 95"	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1163A>G	19.37:g.22156673T>C	ENSP00000380315:p.Lys388Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K388R	ENST00000397126.4	37	c.1163	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913208	0.33815	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17854	2.25	2.65	2.65	0.31530	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16981	0.0408	.	.	.	0.09310	N	1	P	0.35600	0.511	B	0.42882	0.401	T	0.19712	-1.0297	8	0.44086	T	0.13	.	5.3131	0.15841	0.0:0.1472:0.0:0.8528	.	388	O43345	ZN208_HUMAN	R	388	ENSP00000380315:K388R	ENSP00000380315:K388R	K	-	2	0	ZNF208	21948513	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.643000	0.05421	0.856000	0.35383	0.254000	0.18369	AAG	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0	63	0	T	NM_007153		22156673	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	missense	18.52	44	10	SNP	0.006	C	C	22156673	T	C	22156673	3	2	87	1	0	0	0	0	1	0	0	0	17814	1609	56	4	2683	4	ZNF208	19	22156673	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	855781	22156673	36972310	1769	24893											
ZNF492	57615	genome.wustl.edu	37	chr19	22846645	22846646	+	Frame_Shift_Ins	INS	-	-	A																															acctttggccaaagcagggcINSaaaaaaaattatttccaaaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:22846645_22846646insA	ENST00000456783.2	+	4	418_419	c.174_175insA	c.(175-177)aaafs	p.K59fs	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	59					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CAAAGCAGGGCAAAAAAAATTA	0.302																																																	0																																										SO:0001589	frameshift_variant	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"Zinc fingers, C2H2-type"	23707	protein-coding gene	gene with protein product			"zinc finger protein 115 (Y20)"	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.182dupA	19.37:g.22846653_22846653dupA	ENSP00000413660:p.Lys59fs		Q08EI7|Q08EI8	Frame_Shift_Ins	INS	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N60fs	ENST00000456783.2	37	c.174_175	CCDS46032.1	19																																																																																			ZNF492	-	NULL	ENSG00000229676		0.302	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1		0	66	0	-	NM_020855		22846646	1	tier1		no_errors	ENST00000456783	ensembl	human	known	74_37	frame_shift_ins	9.09	40	4	INS	0.000:0.001	A	A	22846646	-	A	22846645	7	5	87	1	0	1	1	0	0	0	0	0	17991	697	25	0	184	0	ZNF492	19	22846645	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	689972	22846645	36282338	1770	24894											
ZNF536	9745	genome.wustl.edu	37	chr19	30934476	30934477	+	Frame_Shift_Ins	INS	-	-	A																															tctcttttcagggatggaagINSaagcgagcctgtgccttgga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:30934476_30934477insA	ENST00000355537.3	+	2	154_155	c.7_8insA	c.(7-9)gaafs	p.E3fs		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	3					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGATGGAAGAAGCGAGCCTG	0.589																																																	0																																										SO:0001589	frameshift_variant	0				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"Zinc fingers, C2H2-type"	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.9dupA	19.37:g.30934478_30934478dupA	ENSP00000347730:p.Glu3fs		A2RU18	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A4fs	ENST00000355537.3	37	c.7_8	CCDS32984.1	19																																																																																			ZNF536	-	NULL	ENSG00000198597		0.589	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF536	HGNC	protein_coding	OTTHUMT00000459667.2		0	58	0	-	NM_014717		30934477	1	tier1		no_errors	ENST00000355537	ensembl	human	known	74_37	frame_shift_ins	28.57	25	10	INS	1.000:1.000	A	A	30934477	-	A	30934476	7	5	87	1	0	1	1	0	0	0	0	0	18022	943	33	0	9	0	ZNF536	19	30934476	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	8087831	30934476	28194507	1771	24895											
ZNF507	22847	genome.wustl.edu	37	chr19	32844630	32844630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcttcagcagctgctgcGcctggtggggtcgatgcagt	5	11	15	10	2	2	0	1	0	1	0	3	2	2	0	1	3	5	4	1	3	0	2	rs369944187		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:32844630G>A	ENST00000311921.4	+	2	1086	c.894G>A	c.(892-894)gcG>gcA	p.A298A	ZNF507_ENST00000544431.1_Silent_p.A298A|ZNF507_ENST00000355898.5_Silent_p.A298A	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CAGCTGCTGCGCCTGGTGGGG	0.502																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	102	104	103		894,894	-1.5	0	19		103	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF507	NM_001136156.1,NM_014910.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	298/954,298/954	32844630	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"Zinc fingers, C2H2-type"	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.894G>A	19.37:g.32844630G>A			A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A298	ENST00000311921.4	37	c.894	CCDS32985.1	19																																																																																			ZNF507	-	NULL	ENSG00000168813		0.502	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	-	0	43	0	G	NM_014910		32844630	1	tier1	-	no_errors	ENST00000311921	ensembl	human	known	74_37	silent	15.62	26	5	SNP	0.000	A	A	32844630	G	A	32844630	2	1	87	1	0	0	0	0	0	0	0	1	18001	1074	38	1		1	ZNF507	19	32844630	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1910154	32844630	26284353	1772	24896											
WDR88	126248	genome.wustl.edu	37	chr19	33623177	33623177	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtcccggcaagctgtcCtgggggaccatggcgagggc	6	8	16	11	2	0	0	0	0	0	0	2	2	2	1	3	5	1	2	3	5	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:33623177C>A	ENST00000355868.3	+	1	178	c.102C>A	c.(100-102)tcC>tcA	p.S34S	WDR88_ENST00000361680.2_Silent_p.S34S|WDR88_ENST00000592765.1_Silent_p.S34S	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	34										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GCAAGCTGTCCTGGGGGACCA	0.692																																																	0													60	58	59					19																	33623177		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"WD repeat domain containing"	26999	protein-coding gene	gene with protein product			"PQQ repeat and WD repeat domain containing"	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.102C>A	19.37:g.33623177C>A			Q8NEF8	Silent	SNP	pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S34	ENST00000355868.3	37	c.102	CCDS12429.1	19																																																																																			WDR88	-	NULL	ENSG00000166359		0.692	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR88	HGNC	protein_coding	OTTHUMT00000450840.1	-	0	138	0	C	NM_173479		33623177	1	tier1	-	no_errors	ENST00000355868	ensembl	human	known	74_37	silent	12.07	102	14	SNP	0.001	A	A	33623177	C	A	33623177	2	1	87	1	0	0	0	0	0	0	0	1	17384	668	24	3		3	WDR88	19	33623177	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	778547	33623177	25505806	1773	24897											
PEPD	5184	genome.wustl.edu	37	chr19	33878909	33878909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagatgcccggctccaCggtgagcaccatgcctggct	8	7	13	13	2	0	2	0	1	0	1	1	3	1	2	4	3	3	4	4	3	2	1	rs544921062		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:33878909C>T	ENST00000244137.7	-	14	1264	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M	PEPD_ENST00000397032.4_Missense_Mutation_p.V370M|PEPD_ENST00000436370.3_Missense_Mutation_p.V347M|PEPD_ENST00000591968.1_5'UTR	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	411					cellular amino acid metabolic process (GO:0006520)|collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)	aminopeptidase activity (GO:0004177)|dipeptidase activity (GO:0016805)|manganese ion binding (GO:0030145)|metallocarboxypeptidase activity (GO:0004181)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCCGGCTCCACGGTGAGCACC	0.692													C|||	1	0.000199681	8e-04	0	5008	,	,		16604	0		0	False		,,,				2504	0																0													10	15	13					19																	33878909		1998	4133	6131	SO:0001583	missense	0			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	3.4.13.9		8840	protein-coding gene	gene with protein product	"prolidase"	613230				2925654, 1972707	Standard	NM_000285		Approved		uc002nur.4	P12955		ENST00000244137.7:c.1231G>A	19.37:g.33878909C>T	ENSP00000244137:p.Val411Met		A8K3Z1|A8K416|A8K696|A8MX47|B4DDB7|B4DGJ1|E9PCE8|Q8TBN9|Q9BT75	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain	p.V411M	ENST00000244137.7	37	c.1231	CCDS42544.1	19	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841506	0.71488	.	.	ENSG00000124299	ENST00000244137;ENST00000397032;ENST00000436370	T;T;T	0.80033	-1.33;-1.33;-1.33	5.46	5.46	0.80206	Peptidase M24, structural domain (3);	0.113840	0.64402	D	0.000011	D	0.90659	0.7070	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.985;0.984;0.978;0.978	D	0.91652	0.5335	10	0.87932	D	0	-39.6278	7.9998	0.30291	0.0:0.8261:0.0:0.1739	.	347;370;411;411	E9PCE8;A8MX47;P12955;A8K3Z1	.;.;PEPD_HUMAN;.	M	411;370;347	ENSP00000244137:V411M;ENSP00000380226:V370M;ENSP00000391890:V347M	ENSP00000244137:V411M	V	-	1	0	PEPD	38570749	0.968000	0.33430	0.954000	0.39281	0.727000	0.41649	2.215000	0.42862	2.561000	0.86390	0.491000	0.48974	GTG	PEPD	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000124299		0.692	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEPD	HGNC	protein_coding	OTTHUMT00000451432.3	-	0	25	0	C	NM_000285		33878909	-1	tier1	-	no_errors	ENST00000244137	ensembl	human	known	74_37	missense	29.63	19	8	SNP	0.972	T	T	33878909	C	T	33878909	3	4	87	1	0	0	0	0	1	0	0	0	11767	536	19	1	258	1	PEPD	19	33878909	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	255732	33878909	25250074	1774	24898											
CHST8	64377	genome.wustl.edu	37	chr19	34263896	34263896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggccctgcaaaggcaGcgcacctacgacttctacta	9	8	8	16	3	2	0	0	0	2	0	3	1	2	0	2	2	4	3	2	2	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:34263896G>A	ENST00000262622.4	+	4	1961	c.1203G>A	c.(1201-1203)caG>caA	p.Q401Q	CHST8_ENST00000438847.3_Silent_p.Q401Q|CHST8_ENST00000434302.1_Silent_p.Q401Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	401					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TGCAAAGGCAGCGCACCTACG	0.622																																																	0													50	55	53					19																	34263896		2203	4299	6502	SO:0001819	synonymous_variant	0			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"Sulfotransferases, membrane-bound"	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.1203G>A	19.37:g.34263896G>A			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.Q401	ENST00000262622.4	37	c.1203	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase	ENSG00000124302		0.622	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1		0	25	0	G	NM_022467		34263896	1			no_errors	ENST00000262622	ensembl	human	known	74_37	silent	11.54	23	3	SNP	1.000	A	A	34263896	G	A	34263896	2	1	87	1	0	0	0	0	0	0	0	1	3417	962	34	3		3	CHST8	19	34263896	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	384987	34263896	24865087	1775	24899											
LSR	51599	genome.wustl.edu	37	chr19	35757844	35757845	+	Frame_Shift_Ins	INS	-	-	C																															ttcgacccttctcgacctggINScccccccagtggccgtgtgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:35757844_35757845insC	ENST00000361790.3	+	8	1421_1422	c.1262_1263insC	c.(1261-1266)ggccccfs	p.GP421fs	LSR_ENST00000427250.1_Frame_Shift_Ins_p.GP265fs|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000354900.3_Frame_Shift_Ins_p.GP402fs|LSR_ENST00000360798.3_Frame_Shift_Ins_p.GP353fs|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000347609.4_Frame_Shift_Ins_p.GP363fs|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000602122.1_Frame_Shift_Ins_p.GP401fs	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	421					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCTCGACCTGGCCCCCCCAGTG	0.624																																																	0									,,	3,4259		0,3,2128					,,	3.3	0			31	10,8240		0,10,4115	no	frameshift,frameshift,frameshift	LSR	NM_205835.2,NM_205834.2,NM_015925.5	,,	0,13,6243	A1A1,A1R,RR		0.1212,0.0704,0.1039	,,	,,		13,12499				SO:0001589	frameshift_variant	0			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29572	protein-coding gene	gene with protein product	"lipolysis-stimulated remnant", "immunoglobulin-like domain containing receptor 3"					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1269dupC	19.37:g.35757851_35757851dupC	ENSP00000354575:p.Gly421fs		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Frame_Shift_Ins	INS	pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.S424fs	ENST00000361790.3	37	c.1262_1263	CCDS12450.1	19																																																																																			LSR	-	NULL	ENSG00000105699		0.624	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	HGNC	protein_coding	OTTHUMT00000465513.2		0	46	0	-	NM_015925		35757845	1	tier1		no_errors	ENST00000361790	ensembl	human	known	74_37	frame_shift_ins	15.62	27	5	INS	0.645:0.001	C	C	35757845	-	C	35757844	7	5	87	1	0	1	1	0	0	0	0	0	9099	1203	42	0	1292	0	LSR	19	35757844	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1493948	35757844	23371139	1776	24900											
CD22	933	genome.wustl.edu	37	chr19	35823799	35823799	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagtccaagactgagaaatgGatggaacgaatacacctcaa	17	6	10	8	1	1	2	1	1	0	2	2	7	2	4	2	2	2	0	2	2	6	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:35823799G>A	ENST00000085219.5	+	3	450	c.384G>A	c.(382-384)tgG>tgA	p.W128*	CD22_ENST00000595419.1_3'UTR|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000270311.6_Nonsense_Mutation_p.W8*|CD22_ENST00000594250.1_Nonsense_Mutation_p.W128*|CD22_ENST00000536635.2_Nonsense_Mutation_p.W128*|CD22_ENST00000544992.2_Nonsense_Mutation_p.W128*|CD22_ENST00000341773.6_Nonsense_Mutation_p.W128*|CD22_ENST00000419549.2_De_novo_Start_OutOfFrame	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	128	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTGAGAAATGGATGGAACGAA	0.552																																					Ovarian(42;1009 1133 23674 26041)												0													88	78	81					19																	35823799		2203	4300	6503	SO:0001587	stop_gained	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.384G>A	19.37:g.35823799G>A	ENSP00000085219:p.Trp128*		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Nonsense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W128*	ENST00000085219.5	37	c.384	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049863	0.75846	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311	.	.	.	5.26	5.26	0.73747	.	0.000000	0.47852	D	0.000216	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	14.3709	0.66838	0.0:0.0:1.0:0.0	.	.	.	.	X	128;128;128;128;8	.	ENSP00000085219:W128X	W	+	3	0	CD22	40515639	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	4.489000	0.60309	2.459000	0.83118	0.563000	0.77884	TGG	CD22	-	smart_Ig_sub	ENSG00000012124		0.552	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	-	0	34	0	G	NM_001771		35823799	1	tier1	-	no_errors	ENST00000085219	ensembl	human	known	74_37	nonsense	25.00	27	9	SNP	1.000	A	A	35823799	G	A	35823799	4	1	87	1	0	0	0	0	0	1	0	0	2992	1183	41	3	390	3	CD22	19	35823799	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	65955	35823799	23305184	1777	24901											
CD22	933	genome.wustl.edu	37	chr19	35832639	35832639	+	Frame_Shift_Del	DEL	G	G	-																															ctgcgtgtgtccatgagcccGggggaccaagtgatggaggg																								rs138249765		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:35832639delG	ENST00000085219.5	+	9	1872	c.1806delG	c.(1804-1806)ccgfs	p.P602fs	CD22_ENST00000270311.6_Frame_Shift_Del_p.P482fs|CD22_ENST00000594250.1_Frame_Shift_Del_p.P425fs|CD22_ENST00000536635.2_Frame_Shift_Del_p.P514fs|CD22_ENST00000544992.2_Frame_Shift_Del_p.P602fs|CD22_ENST00000341773.6_Frame_Shift_Del_p.P425fs|CD22_ENST00000419549.2_Frame_Shift_Del_p.P430fs	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	602	Ig-like C2-type 6.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCATGAGCCCGGGGGACCAAG	0.622																																					Ovarian(42;1009 1133 23674 26041)												0													98	79	86					19																	35832639		2203	4300	6503	SO:0001589	frameshift_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1806delG	19.37:g.35832639delG	ENSP00000085219:p.Pro602fs		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Frame_Shift_Del	DEL	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D604fs	ENST00000085219.5	37	c.1806	CCDS12457.1	19																																																																																			CD22	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000012124		0.622	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1		0	42	0	G	NM_001771		35832639	1	tier1		no_errors	ENST00000085219	ensembl	human	known	74_37	frame_shift_del	60.47	17	26	DEL	0.000	-	-	35832639	G	-	35832639	7	5	87	1	0	1	0	1	0	0	0	0	2992	1103	39	0	1836	0	CD22	19	35832639	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	8840	35832639	23296344	1778	24902											
ATP4A	495	genome.wustl.edu	37	chr19	36046453	36046454	+	Frame_Shift_Ins	INS	-	-	T																															gttccgatgggtccatgtccINSttcagctgcatgccattgat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36046453_36046454insT	ENST00000262623.3	-	14	2073_2074	c.2045_2046insA	c.(2044-2046)aagfs	p.K682fs		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	682					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGTCCATGTCCTTCAGCTGCAT	0.639																																																	0																																										SO:0001589	frameshift_variant	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2046dupA	19.37:g.36046455_36046455dupT	ENSP00000262623:p.Lys682fs		O00738	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.D683fs	ENST00000262623.3	37	c.2046_2045	CCDS12467.1	19																																																																																			ATP4A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.639	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2		0	60	0	-	NM_000704		36046454	-1	tier1		no_errors	ENST00000262623	ensembl	human	known	74_37	frame_shift_ins	20.83	38	10	INS	1.000:1.000	T	T	36046454	-	T	36046453	7	5	87	1	0	1	1	0	0	0	0	0	1146	680	24	0	1097	0	ATP4A	19	36046453	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	213814	36046453	23082530	1779	24903											
ATP4A	495	genome.wustl.edu	37	chr19	36047856	36047856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagcacagcatcagggaCggtggcccggggtgggtcaa	8	6	17	10	2	2	1	2	1	0	0	2	2	2	2	1	6	2	2	1	6	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36047856C>T	ENST00000262623.3	-	12	1856	c.1828G>A	c.(1828-1830)Gtc>Atc	p.V610I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	610					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GCATCAGGGACGGTGGCCCGG	0.597																																																	0													61	58	59					19																	36047856		2203	4300	6503	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1828G>A	19.37:g.36047856C>T	ENSP00000262623:p.Val610Ile		O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.V610I	ENST00000262623.3	37	c.1828	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.086996	0.94100	.	.	ENSG00000105675	ENST00000262623	D	0.96168	-3.93	4.93	4.93	0.64822	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.56097	D	0.000027	D	0.97663	0.9234	M	0.84156	2.68	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98264	1.0500	10	0.87932	D	0	.	15.671	0.77274	0.0:1.0:0.0:0.0	.	610	P20648	ATP4A_HUMAN	I	610	ENSP00000262623:V610I	ENSP00000262623:V610I	V	-	1	0	ATP4A	40739696	1.000000	0.71417	0.811000	0.32455	0.992000	0.81027	7.625000	0.83145	2.562000	0.86427	0.591000	0.81541	GTC	ATP4A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.597	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	-	0	80	0	C	NM_000704		36047856	-1	tier1	-	no_errors	ENST00000262623	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.998	T	T	36047856	C	T	36047856	3	4	87	1	0	0	0	0	1	0	0	0	1146	536	19	1	1323	1	ATP4A	19	36047856	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1403	36047856	23081127	1780	24904											
MLL4	9757	genome.wustl.edu	37	chr19	36212475	36212475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctactgcagcccctgcaGgccttgcaaacccagctcct	8	7	8	18	0	0	0	0	0	0	0	1	0	1	0	5	1	8	5	5	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36212475G>T	ENST00000222270.7	+	3	2226	c.2226G>T	c.(2224-2226)caG>caT	p.Q742H	KMT2B_ENST00000420124.1_Missense_Mutation_p.Q742H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	742	Pro-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AGCCCCTGCAGGCCTTGCAAA	0.652																																																	0																																										SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2226G>T	19.37:g.36212475G>T	ENSP00000222270:p.Gln742His		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q742H	ENST00000222270.7	37	c.2226	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	8.873	0.949861	0.18431	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84070	-1.8;-1.8	4.29	-1.77	0.07982	.	0.257041	0.20593	N	0.089312	T	0.64994	0.2649	N	0.14661	0.345	0.26732	N	0.970572	P	0.38922	0.651	B	0.37833	0.259	T	0.60566	-0.7238	10	0.46703	T	0.11	.	8.3435	0.32258	0.4851:0.0:0.5149:0.0	.	742	Q9UMN6	MLL4_HUMAN	H	742	ENSP00000222270:Q742H;ENSP00000398837:Q742H	ENSP00000222270:Q742H	Q	+	3	2	AD000671.1	40904315	0.997000	0.39634	0.675000	0.29917	0.543000	0.35085	1.342000	0.33919	-0.175000	0.10725	-0.402000	0.06365	CAG	KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.652	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	149	0	G	NM_014727		36212475	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	17.86	69	15	SNP	0.921	T	T	36212475	G	T	36212475	3	4	87	1	0	0	0	0	1	0	0	0	9661	991	35	3	2236	3	MLL4	19	36212475	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	164619	36212475	22916508	1781	24905											
MLL4	9757	genome.wustl.edu	37	chr19	36227710	36227710	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgggttcagcgttGaggcagagagcttggagggt	8	9	20	4	1	1	3	1	2	0	1	1	6	1	5	0	5	2	4	0	5	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36227710G>T	ENST00000222270.7	+	31	7279	c.7279G>T	c.(7279-7281)Gag>Tag	p.E2427*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.E2427*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2427	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTTCAGCGTTGAGGCAGAGAG	0.582																																																	0													81	88	85					19																	36227710		2149	4263	6412	SO:0001587	stop_gained	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7279G>T	19.37:g.36227710G>T	ENSP00000222270:p.Glu2427*		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E2427*	ENST00000222270.7	37	c.7279	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	47	13.863299	0.99767	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	5.7	5.7	0.88788	.	0.000000	0.43260	D	0.000581	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	13.4033	0.60896	0.0:0.2655:0.7345:0.0	.	.	.	.	X	2427	.	ENSP00000222270:E2427X	E	+	1	0	AD000671.1	40919550	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.383000	0.44354	2.675000	0.91044	0.655000	0.94253	GAG	KMT2B	-	pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C	ENSG00000272333		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	45	0	G	NM_014727		36227710	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	nonsense	61.54	10	16	SNP	0.999	T	T	36227710	G	T	36227710	4	4	87	1	0	0	0	0	0	1	0	0	9661	1291	45	3	7401	3	MLL4	19	36227710	Nonsense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	15235	36227710	22901273	1782	24906											
MLL4	9757	genome.wustl.edu	37	chr19	36227817	36227817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtctccccaggggcGtggagaactctgatcgagaa	8	9	13	11	2	3	3	0	1	3	2	5	5	3	3	2	3	2	1	2	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36227817G>A	ENST00000222270.7	+	32	7302	c.7302G>A	c.(7300-7302)gcG>gcA	p.A2434A	KMT2B_ENST00000420124.1_Silent_p.A2434A|IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2434	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCCAGGGGCGTGGAGAACTC	0.602																																																	0													45	51	49					19																	36227817		2135	4253	6388	SO:0001819	synonymous_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"Chromatin-modifying enzymes / K-methyltransferases"	15840	protein-coding gene	gene with protein product	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7302G>A	19.37:g.36227817G>A			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.A2434	ENST00000222270.7	37	c.7302	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax,pfam_FYrich_C,smart_FYrich_C	ENSG00000272333		0.602	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0	48	0	G	NM_014727		36227817	1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.263	A	A	36227817	G	A	36227817	2	1	87	1	0	0	0	0	0	0	0	1	9661	1132	40	1		1	MLL4	19	36227817	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	107	36227817	22901166	1783	24907											
ARHGAP33	115703	genome.wustl.edu	37	chr19	36278975	36278975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcctgagcccctctacGtcaacctagctctagggccc	7	7	8	19	2	3	1	1	1	2	0	3	1	3	1	6	1	4	1	6	1	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36278975G>A	ENST00000007510.4	+	21	3652	c.3508G>A	c.(3508-3510)Gtc>Atc	p.V1170I	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.V1009I|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.V1006I|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1170					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCCCTCTACGTCAACCTAGC	0.682																																																	0													33	35	34					19																	36278975		2200	4296	6496	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"Rho GTPase activating proteins"	23085	protein-coding gene	gene with protein product		614902	"sorting nexin 26"	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3508G>A	19.37:g.36278975G>A	ENSP00000007510:p.Val1170Ile		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V1170I	ENST00000007510.4	37	c.3508		19	.	.	.	.	.	.	.	.	.	.	g	15.91	2.971889	0.53614	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.19250	2.76;2.16;2.5	4.78	3.65	0.41850	.	0.000000	0.41396	D	0.000894	T	0.16041	0.0386	N	0.19112	0.55	0.27682	N	0.946408	P;P	0.51653	0.947;0.947	P;B	0.44811	0.461;0.362	T	0.06862	-1.0803	10	0.39692	T	0.17	.	13.6405	0.62249	0.0:0.1567:0.8432:0.0	.	1006;1009	O14559-10;O14559-11	.;.	I	1170;1009;1006	ENSP00000007510:V1170I;ENSP00000320038:V1009I;ENSP00000368227:V1006I	ENSP00000007510:V1170I	V	+	1	0	ARHGAP33	40970815	1.000000	0.71417	1.000000	0.80357	0.497000	0.33675	3.929000	0.56514	2.382000	0.81193	0.401000	0.26515	GTC	ARHGAP33	-	NULL	ENSG00000004777		0.682	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		-	0	21	0	G	NM_052948		36278975	1	tier1	-	no_errors	ENST00000007510	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	A	A	36278975	G	A	36278975	3	1	87	1	0	0	0	0	1	0	0	0	882	1145	40	1	3590	1	ARHGAP33	19	36278975	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	51158	36278975	22850008	1784	24908											
LRFN3	79414	genome.wustl.edu	37	chr19	36431206	36431206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgaggaggagtttgtctgCgagccgcccgtggtgactca	6	8	17	10	4	2	1	1	1	1	0	2	5	2	3	2	4	2	1	2	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36431206C>T	ENST00000588831.1	+	3	1933	c.879C>T	c.(877-879)tgC>tgT	p.C293C	LRFN3_ENST00000246529.3_Silent_p.C293C			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	293	LRRCT.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTTTGTCTGCGAGCCGCCCG	0.741																																																	0													8	10	10					19																	36431206		2031	4017	6048	SO:0001819	synonymous_variant	0			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.879C>T	19.37:g.36431206C>T			Q6UY10	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C293	ENST00000588831.1	37	c.879	CCDS12483.1	19																																																																																			LRFN3	-	smart_Cys-rich_flank_reg_C	ENSG00000126243		0.741	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	HGNC	protein_coding	OTTHUMT00000457403.2	-	0	9	0	C	NM_024509		36431206	1	tier1	-	no_errors	ENST00000246529	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.982	T	T	36431206	C	T	36431206	2	4	87	1	0	0	0	0	0	0	0	1	8974	776	27	1		1	LRFN3	19	36431206	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	152231	36431206	22697777	1785	24909											
CAPNS1	826	genome.wustl.edu	37	chr19	36633868	36633868	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataaggttgtgacacgaCgtaagtgaccggggttaagg	12	9	14	6	3	1	2	1	2	0	0	1	3	1	2	1	4	0	3	1	4	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36633868C>T	ENST00000246533.3	+	5	989	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	CAPNS1_ENST00000588815.1_Splice_Site_p.H131Y|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Splice_Site_p.H131Y|CAPNS1_ENST00000590874.1_Splice_Site_p.H101Y|CAPNS1_ENST00000588780.1_Splice_Site_p.H131Y|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	131					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGACACGACGTAAGTGACC	0.537																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												0													135	114	121					19																	36633868		2203	4300	6503	SO:0001630	splice_region_variant	0			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.391+1C>T	19.37:g.36633868C>T			A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.H131Y	ENST00000246533.3	37	c.391	CCDS12489.1	19	.	.	.	.	.	.	.	.	.	.	c	16.79	3.220311	0.58560	.	.	ENSG00000126247	ENST00000246533	T	0.39406	1.08	4.85	4.85	0.62838	EF-hand-like domain (1);	0.052655	0.85682	D	0.000000	T	0.45538	0.1347	M	0.89287	3.02	0.80722	D	1	P	0.45011	0.848	B	0.29663	0.105	T	0.63314	-0.6665	10	0.59425	D	0.04	.	15.8481	0.78907	0.0:1.0:0.0:0.0	.	131	P04632	CPNS1_HUMAN	Y	131	ENSP00000246533:H131Y	ENSP00000246533:H131Y	H	+	1	0	CAPNS1	41325708	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.207000	0.65197	2.665000	0.90641	0.655000	0.94253	CAC	CAPNS1	-	NULL	ENSG00000126247		0.537	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2	-	0	46	0	C		Missense_Mutation	36633868	1	tier1	-	no_errors	ENST00000588780	ensembl	human	known	74_37	missense	31.82	15	7	SNP	1.000	T	T	36633868	C	T	36633868	5	4	87	1	0	0	0	0	0	0	1	0	2640	550	19	1	405	1	CAPNS1	19	36633868	Splice_Site	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	202662	36633868	22495115	1786	24910											
COX7A1	1346	genome.wustl.edu	37	chr19	36642594	36642594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagcttctgtttctcgcGcactcggttctgaaagcggt	7	12	12	10	4	3	2	0	1	3	1	5	3	3	2	0	2	2	4	0	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:36642594G>A	ENST00000292907.3	-	2	540	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	27					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTTTCTCGCGCACTCGGTTC	0.716																																																	0													15	18	17					19																	36642594		2195	4294	6489	SO:0001583	missense	0			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.79C>T	19.37:g.36642594G>A	ENSP00000292907:p.Arg27Cys			Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	p.R27C	ENST00000292907.3	37	c.79	CCDS12490.1	19	.	.	.	.	.	.	.	.	.	.	g	9.855	1.194635	0.22037	.	.	ENSG00000161281	ENST00000292907	T	0.45276	0.9	5.3	-2.08	0.07254	.	0.460721	0.22532	N	0.058833	T	0.37046	0.0989	.	.	.	0.09310	N	1	P	0.39116	0.66	B	0.39068	0.289	T	0.50233	-0.8852	9	0.87932	D	0	-2.6632	16.9737	0.86308	0.0:0.3633:0.6367:0.0	.	27	P24310	CX7A1_HUMAN	C	27	ENSP00000292907:R27C	ENSP00000292907:R27C	R	-	1	0	COX7A1	41334434	0.027000	0.19231	0.121000	0.21740	0.015000	0.08874	0.187000	0.16998	-0.026000	0.13895	-0.194000	0.12790	CGC	COX7A1	-	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a	ENSG00000161281		0.716	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A1	HGNC	protein_coding	OTTHUMT00000109545.2	-	0	79	0	G	NM_001864		36642594	-1	tier1	-	no_errors	ENST00000292907	ensembl	human	known	74_37	missense	22.67	58	17	SNP	0.027	A	A	36642594	G	A	36642594	3	1	87	1	0	0	0	0	1	0	0	0	3786	1087	38	1	172	1	COX7A1	19	36642594	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	8726	36642594	22486389	1787	24911											
ZNF607	84775	genome.wustl.edu	37	chr19	38189877	38189877	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttcttaccactatgaatAccctgatgtcgagtaagtcg	10	13	9	9	2	1	2	0	2	1	0	3	3	1	2	2	1	2	2	2	1	5	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:38189877A>G	ENST00000355202.4	-	5	1750	c.1155T>C	c.(1153-1155)ggT>ggC	p.G385G	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.G384G	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	385					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CACTATGAATACCCTGATGTC	0.388																																																	0													79	77	78					19																	38189877		2203	4300	6503	SO:0001819	synonymous_variant	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1155T>C	19.37:g.38189877A>G			F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G385	ENST00000355202.4	37	c.1155	CCDS33006.1	19																																																																																			ZNF607	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.388	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0	58	0	A	NM_032689		38189877	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	silent	15.09	45	8	SNP	0.968	G	G	38189877	A	G	38189877	2	3	87	1	0	0	0	0	0	0	0	1	18081	378	14	4		4	ZNF607	19	38189877	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1547283	38189877	20939106	1788	24912											
SIPA1L3	23094	genome.wustl.edu	37	chr19	38573645	38573645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgttggaagttcccaaGgagcagcagcggacgcagag	10	6	16	9	3	0	1	0	0	0	1	2	4	1	4	1	4	3	5	1	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:38573645G>T	ENST00000222345.6	+	3	1949	c.1440G>T	c.(1438-1440)aaG>aaT	p.K480N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	480					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGTTCCCAAGGAGCAGCAGC	0.667																																																	0													29	34	32					19																	38573645		2203	4300	6503	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1440G>T	19.37:g.38573645G>T	ENSP00000222345:p.Lys480Asn		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.K480N	ENST00000222345.6	37	c.1440	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552962	0.45487	.	.	ENSG00000105738	ENST00000222345	T	0.76968	-1.06	5.15	4.12	0.48240	.	0.521465	0.20367	N	0.093721	T	0.71702	0.3371	L	0.50333	1.59	0.41648	D	0.989115	B	0.27910	0.193	B	0.24269	0.052	T	0.70733	-0.4791	10	0.54805	T	0.06	-36.3841	12.6268	0.56634	0.082:0.0:0.918:0.0	.	480	O60292	SI1L3_HUMAN	N	480	ENSP00000222345:K480N	ENSP00000222345:K480N	K	+	3	2	SIPA1L3	43265485	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	2.466000	0.45084	1.186000	0.42985	0.563000	0.77884	AAG	SIPA1L3	-	NULL	ENSG00000105738		0.667	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	-	0	71	0	G	XM_032278		38573645	1	tier1	-	no_errors	ENST00000222345	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	T	T	38573645	G	T	38573645	3	4	87	1	0	0	0	0	1	0	0	0	14376	991	35	3	1442	3	SIPA1L3	19	38573645	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	383768	38573645	20555338	1789	24913											
RYR1	6261	genome.wustl.edu	37	chr19	39038962	39038962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgatcctcaagttcttcGacatgttcctgaaactcaag	12	12	7	10	1	3	3	2	2	1	1	6	4	5	3	2	0	1	2	2	0	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39038962G>A	ENST00000359596.3	+	89	12184	c.12184G>A	c.(12184-12186)Gac>Aac	p.D4062N	RYR1_ENST00000355481.4_Missense_Mutation_p.D4057N|RYR1_ENST00000360985.3_Missense_Mutation_p.D4057N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4062					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.D4062Y(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAAGTTCTTCGACATGTTCCT	0.542																																																	1	Substitution - Missense(1)	pancreas(1)											182	136	152					19																	39038962		2203	4300	6503	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12184G>A	19.37:g.39038962G>A	ENSP00000352608:p.Asp4062Asn		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.D4062N	ENST00000359596.3	37	c.12184	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267332	0.59540	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.68025	-0.3;-0.3;-0.3	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000001	T	0.81777	0.4894	M	0.76838	2.35	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.99	D	0.83427	0.0036	10	0.51188	T	0.08	.	17.0495	0.86514	0.0:0.0:1.0:0.0	.	4057;4057;4062	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	N	4062;4057;4057	ENSP00000352608:D4062N;ENSP00000347667:D4057N;ENSP00000354254:D4057N	ENSP00000347667:D4057N	D	+	1	0	RYR1	43730802	1.000000	0.71417	0.989000	0.46669	0.975000	0.68041	9.520000	0.98027	2.441000	0.82636	0.561000	0.74099	GAC	RYR1	-	NULL	ENSG00000196218		0.542	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	73	0	G			39038962	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	missense	23.33	46	14	SNP	1.000	A	A	39038962	G	A	39038962	3	1	87	1	0	0	0	0	1	0	0	0	13813	1058	37	1	12538	1	RYR1	19	39038962	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	465317	39038962	20090021	1790	24914											
EIF3K	27335	genome.wustl.edu	37	chr19	39127545	39127545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgtgtccagcatcatGgcctcctcccagtaacttca	9	10	8	14	0	2	0	2	0	0	0	5	0	5	0	4	2	2	2	4	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39127545G>T	ENST00000593149.1	+	8	712	c.381G>T	c.(379-381)atG>atT	p.M127I	EIF3K_ENST00000588934.1_Missense_Mutation_p.W124L|EIF3K_ENST00000592558.1_Missense_Mutation_p.M188I|EIF3K_ENST00000248342.4_Missense_Mutation_p.M214I					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGCATCATGGCCTCCTCCC	0.557																																																	0													208	176	187					19																	39127545		2203	4300	6503	SO:0001583	missense	0			AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"eukaryotic translation initiation factor 3, subunit 12"	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000593149.1:c.381G>T	19.37:g.39127545G>T	ENSP00000465460:p.Met127Ile			Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25,superfamily_ARM-type_fold	p.M214I	ENST00000593149.1	37	c.642		19	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229151	0.58777	.	.	ENSG00000178982	ENST00000248342	.	.	.	4.46	4.46	0.54185	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.053328	0.64402	D	0.000001	T	0.65322	0.2680	M	0.62723	1.935	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.67015	-0.5777	9	0.87932	D	0	-21.5263	16.0461	0.80722	0.0:0.0:1.0:0.0	.	214	Q9UBQ5	EIF3K_HUMAN	I	214	.	ENSP00000248342:M214I	M	+	3	0	EIF3K	43819385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.000000	0.70678	2.325000	0.78763	0.555000	0.69702	ATG	EIF3K	-	NULL	ENSG00000178982		0.557	EIF3K-004	PUTATIVE	basic|exp_conf	protein_coding	EIF3K	HGNC	protein_coding	OTTHUMT00000453405.1	-	0	114	0	G	NM_013234		39127545	1	tier1	-	no_errors	ENST00000248342	ensembl	human	known	74_37	missense	22.68	75	22	SNP	1.000	T	T	39127545	G	T	39127545	3	4	87	1	0	0	0	0	1	0	0	0	5037	1348	47	3	672	3	EIF3K	19	39127545	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	88583	39127545	20001438	1791	24915											
ACTN4	81	genome.wustl.edu	37	chr19	39208640	39208640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgctgaatgagatccGcaggctggagcggctcgacc	7	7	16	11	3	0	2	0	2	0	1	2	5	1	3	2	4	2	5	2	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39208640G>A	ENST00000252699.2	+	11	1293	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.R187H	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	406					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AATGAGATCCGCAGGCTGGAG	0.647																																					Colon(168;199 1940 10254 46213 46384)												0													47	33	38					19																	39208640		2203	4299	6502	SO:0001583	missense	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1217G>A	19.37:g.39208640G>A	ENSP00000252699:p.Arg406His		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R406H	ENST00000252699.2	37	c.1217	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008747	0.93346	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000390009	T;T	0.70399	-0.48;-0.48	3.84	3.84	0.44239	.	0.000000	0.64402	D	0.000001	T	0.81206	0.4774	M	0.84219	2.685	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.56648	0.803;0.793	D	0.84257	0.0481	10	0.51188	T	0.08	.	15.055	0.71908	0.0:0.0:1.0:0.0	.	406;406	E7EV83;O43707	.;ACTN4_HUMAN	H	406;406;187	ENSP00000252699:R406H;ENSP00000439497:R187H	ENSP00000252699:R406H	R	+	2	0	ACTN4	43900480	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.618000	0.98365	2.155000	0.67459	0.655000	0.94253	CGC	ACTN4	-	NULL	ENSG00000130402		0.647	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	-	0	55	0	G			39208640	1	tier1	-	no_errors	ENST00000252699	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	A	A	39208640	G	A	39208640	3	1	87	1	0	0	0	0	1	0	0	0	207	1087	38	1	1259	1	ACTN4	19	39208640	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	81095	39208640	19920343	1792	24916											
PAK4	10298	genome.wustl.edu	37	chr19	39663724	39663724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaggagccggccaccaCggccagagggggcccaggga	9	0	18	14	2	0	2	0	0	0	2	0	4	0	4	6	6	1	0	6	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:39663724C>T	ENST00000593690.1	+	5	798	c.371C>T	c.(370-372)aCg>aTg	p.T124M	PAK4_ENST00000321944.4_Missense_Mutation_p.T124M|PAK4_ENST00000599386.1_Intron|PAK4_ENST00000435673.2_Missense_Mutation_p.T124M|PAK4_ENST00000358301.3_Missense_Mutation_p.T124M|PAK4_ENST00000599470.1_Intron|PAK4_ENST00000360442.3_Missense_Mutation_p.T124M	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	124	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCGGCCACCACGGCCAGAGGG	0.731																																																	0													4	6	5					19																	39663724		1871	3672	5543	SO:0001583	missense	0			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.371C>T	19.37:g.39663724C>T	ENSP00000469413:p.Thr124Met		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.T124M	ENST00000593690.1	37	c.371	CCDS12528.1	19	.	.	.	.	.	.	.	.	.	.	C	4.943	0.175163	0.09391	.	.	ENSG00000130669	ENST00000358301;ENST00000435673;ENST00000360442	T;T;T	0.71341	-0.56;-0.56;-0.56	3.76	-7.52	0.01341	.	1.578750	0.03441	N	0.209345	T	0.51584	0.1683	L	0.36672	1.1	0.09310	N	1	B;B	0.17268	0.021;0.0	B;B	0.06405	0.002;0.0	T	0.29336	-1.0015	10	0.45353	T	0.12	.	0.8339	0.01136	0.2219:0.3124:0.123:0.3427	.	124;124	O96013-4;O96013	.;PAK4_HUMAN	M	124	ENSP00000351049:T124M;ENSP00000392753:T124M;ENSP00000353625:T124M	ENSP00000351049:T124M	T	+	2	0	PAK4	44355564	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	-4.783000	0.00186	-1.040000	0.03271	-0.273000	0.10243	ACG	PAK4	-	NULL	ENSG00000130669		0.731	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1		0	31	0	C			39663724	1			no_errors	ENST00000358301	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T	T	39663724	C	T	39663724	3	4	87	1	0	0	0	0	1	0	0	0	11442	536	19	1	377	1	PAK4	19	39663724	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	455084	39663724	19465259	1793	24917											
DYRK1B	9149	genome.wustl.edu	37	chr19	40317456	40317456	+	Frame_Shift_Del	DEL	G	G	-																															gccgtgctgcagagcccccaGggggctgatgcgggcggcgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:40317456delG	ENST00000593685.1	-	9	1735	c.1267delC	c.(1267-1269)ctgfs	p.L423fs	DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.L383fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.L423fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.L395fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.L395fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	423	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGAGCCCCCAGGGGGCTGATG	0.751																																																	0													4	6	5					19																	40317456		1977	3877	5854	SO:0001589	frameshift_variant	0			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"minibrain-related kinase"	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.1267delC	19.37:g.40317456delG	ENSP00000469863:p.Leu423fs		O75258|O75788|O75789	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L423fs	ENST00000593685.1	37	c.1267	CCDS12543.1	19																																																																																			DYRK1B	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000105204		0.751	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DYRK1B	HGNC	protein_coding	OTTHUMT00000462874.2		0	50	0	G	NM_004714		40317456	-1	tier1		no_errors	ENST00000323039	ensembl	human	known	74_37	frame_shift_del	15.15	28	5	DEL	0.864	-	-	40317456	G	-	40317456	7	5	87	1	0	1	0	1	0	0	0	0	4869	991	35	0	634	0	DYRK1B	19	40317456	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	653732	40317456	18811527	1794	24918											
FCGBP	8857	genome.wustl.edu	37	chr19	40433822	40433822	+	Frame_Shift_Del	DEL	G	G	-																															acattcctggctgaggtgccGgggggtgtgagcacaaaata																								rs375117067		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:40433822delG	ENST00000221347.6	-	2	454	c.447delC	c.(445-447)cccfs	p.P149fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	149	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGAGGTGCCGGGGGGTGTGA	0.607																																																	0													50	49	49					19																	40433822		2203	4300	6503	SO:0001589	frameshift_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.447delC	19.37:g.40433822delG	ENSP00000221347:p.Pro149fs		O95784	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.G150fs	ENST00000221347.6	37	c.447	CCDS12546.1	19																																																																																			FCGBP	-	NULL	ENSG00000090920		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0	33	0	G	NM_003890		40433822	-1	tier1		no_errors	ENST00000221347	ensembl	human	known	74_37	frame_shift_del	19.35	25	6	DEL	0.000	-	-	40433822	G	-	40433822	7	5	87	1	0	1	0	1	0	0	0	0	5800	1103	39	0	15910	0	FCGBP	19	40433822	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	116366	40433822	18695161	1795	24919											
CNTD2	79935	genome.wustl.edu	37	chr19	40729296	40729297	+	Splice_Site	INS	-	-	G																															gtattcacaagggctcacctINSgggggctgctccctgccagc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:40729296_40729297insG	ENST00000430325.2	-	4	718_719	c.670_671insC	c.(670-672)cag>cCag	p.Q224fs	CNTD2_ENST00000513948.1_Splice_Site_p.Q118fs	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	224					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						AGGGCTCACCTGGGGGCTGCTC	0.718																																																	0																																										SO:0001630	splice_region_variant	0			AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"cyclin P"					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.672+1->C	19.37:g.40729301_40729301dupG			B4DX65	Frame_Shift_Ins	INS	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.Q224fs	ENST00000430325.2	37	c.671_670	CCDS12551.2	19																																																																																			CNTD2	-	superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000105219		0.718	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD2	HGNC	protein_coding	OTTHUMT00000360785.1		0	24	0	-	NM_024877	Frame_Shift_Ins	40729297	-1	tier1		no_errors	ENST00000430325	ensembl	human	known	74_37	frame_shift_ins	17.24	24	5	INS	0.849:0.810	G	G	40729297	-	G	40729296	8	5	87	1	0	1	1	0	0	0	1	0	3643	1594	55	0	260	0	CNTD2	19	40729296	Splice_Site	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	295474	40729296	18399687	1796	24920											
NUMBL	9253	genome.wustl.edu	37	chr19	41173520	41173520	+	Frame_Shift_Del	DEL	G	G	-																															ggcgctggctcagggggccaGggggccccattggggcgagg																								rs374888940		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41173520delG	ENST00000252891.4	-	10	1850	c.1683delC	c.(1681-1683)cccfs	p.P561fs	NUMBL_ENST00000540131.1_Frame_Shift_Del_p.P520fs|NUMBL_ENST00000598779.1_Frame_Shift_Del_p.P520fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	561					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGGGGCCAGGGGGCCCCAT	0.682																																																	0													4	5	5					19																	41173520		2073	4062	6135	SO:0001589	frameshift_variant	0			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1683delC	19.37:g.41173520delG	ENSP00000252891:p.Pro561fs		Q7Z4J9	Frame_Shift_Del	DEL	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.W562fs	ENST00000252891.4	37	c.1683	CCDS12561.1	19																																																																																			NUMBL	-	pirsf_Numb/numb-like	ENSG00000105245		0.682	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2		0	15	0	G	NM_004756		41173520	-1	tier1		no_errors	ENST00000252891	ensembl	human	known	74_37	frame_shift_del	23.08	10	3	DEL	0.596	-	-	41173520	G	-	41173520	7	5	87	1	0	1	0	1	0	0	0	0	10791	987	35	0	150	0	NUMBL	19	41173520	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	444224	41173520	17955463	1797	24921											
EGLN2	112398	genome.wustl.edu	37	chr19	41306746	41306746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggtggtgagctgcggcCgctgcagagtgaaggcgctg	6	7	20	8	3	0	3	0	2	0	1	0	4	0	4	1	5	3	4	1	5	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41306746C>T	ENST00000593726.1	+	1	1297	c.269C>T	c.(268-270)cCg>cTg	p.P90L	EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000303961.4_Missense_Mutation_p.P90L|EGLN2_ENST00000406058.2_Missense_Mutation_p.P90L			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	90	Bipartite nuclear localization signal.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GAGCTGCGGCCGCTGCAGAGT	0.692																																																	0													18	20	19					19																	41306746		2202	4297	6499	SO:0001583	missense	0			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.269C>T	19.37:g.41306746C>T	ENSP00000469686:p.Pro90Leu		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.P90L	ENST00000593726.1	37	c.269	CCDS12567.1	19	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695379	0.48202	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.23950	1.88;1.88	4.56	4.56	0.56223	.	0.200785	0.32719	N	0.005723	T	0.14399	0.0348	N	0.19112	0.55	0.46586	D	0.999117	B	0.15930	0.015	B	0.10450	0.005	T	0.08994	-1.0695	10	0.11485	T	0.65	-9.0427	10.2261	0.43227	0.0:0.9058:0.0:0.0942	.	90	Q96KS0	EGLN2_HUMAN	L	90	ENSP00000307080:P90L;ENSP00000385253:P90L	ENSP00000307080:P90L	P	+	2	0	EGLN2	45998586	0.003000	0.15002	0.959000	0.39883	0.978000	0.69477	0.580000	0.23803	2.250000	0.74265	0.491000	0.48974	CCG	EGLN2	-	NULL	ENSG00000269858		0.692	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EGLN2	HGNC	protein_coding	OTTHUMT00000463218.1		0	45	0	C			41306746	1			no_errors	ENST00000303961	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.992	T	T	41306746	C	T	41306746	3	4	87	1	0	0	0	0	1	0	0	0	4983	652	23	1	271	1	EGLN2	19	41306746	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	133226	41306746	17822237	1798	24922											
CYP2F1	1572	genome.wustl.edu	37	chr19	41633836	41633836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgggagagtcgctggCgcgcatggagctctttctgt	4	11	16	10	3	2	1	0	0	2	1	3	3	2	2	1	3	2	3	1	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41633836C>T	ENST00000331105.2	+	10	1397	c.1325C>T	c.(1324-1326)gCg>gTg	p.A442V		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	442					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GAGTCGCTGGCGCGCATGGAG	0.642																																																	0													14	16	15					19																	41633836		2199	4288	6487	SO:0001583	missense	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1325C>T	19.37:g.41633836C>T	ENSP00000333534:p.Ala442Val		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A442V	ENST00000331105.2	37	c.1325	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	c	13.49	2.253941	0.39896	.	.	ENSG00000197446	ENST00000331105	D	0.87650	-2.28	3.1	2.03	0.26663	.	0.000000	0.85682	U	0.000000	D	0.87716	0.6247	H	0.95294	3.65	0.49389	D	0.999783	P	0.38992	0.653	B	0.26416	0.069	D	0.86729	0.1947	10	0.87932	D	0	.	9.9664	0.41727	0.0:0.7911:0.2089:0.0	.	442	P24903	CP2F1_HUMAN	V	442	ENSP00000333534:A442V	ENSP00000333534:A442V	A	+	2	0	CYP2F1	46325676	0.849000	0.29639	0.909000	0.35828	0.335000	0.28730	2.222000	0.42926	0.513000	0.28278	0.089000	0.15464	GCG	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	ENSG00000197446		0.642	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	-	0	80	0	C			41633836	1	tier1	-	no_errors	ENST00000331105	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	T	T	41633836	C	T	41633836	3	4	87	1	0	0	0	0	1	0	0	0	4180	768	27	1	1359	1	CYP2F1	19	41633836	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	327090	41633836	17495147	1799	24923											
B9D2	80776	genome.wustl.edu	37	chr19	41860681	41860681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggtgccaccagcagctGtgtgcaggcgatagcggtcg	7	6	16	12	4	0	0	0	0	0	0	1	1	0	0	2	3	5	4	2	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:41860681G>A	ENST00000243578.3	-	4	671	c.452C>T	c.(451-453)aCa>aTa	p.T151I	CTC-435M10.3_ENST00000604424.1_Intron|TGFB1_ENST00000221930.5_5'Flank|TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	151					cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						ACCAGCAGCTGTGTGCAGGCG	0.647																																																	0													89	72	78					19																	41860681		2203	4300	6503	SO:0001583	missense	0			BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9		ENST00000243578.3:c.452C>T	19.37:g.41860681G>A	ENSP00000243578:p.Thr151Ile			Missense_Mutation	SNP	pfam_B9_dom	p.T151I	ENST00000243578.3	37	c.452	CCDS12579.1	19	.	.	.	.	.	.	.	.	.	.	g	25.7	4.669919	0.88348	.	.	ENSG00000123810	ENST00000243578	T	0.73681	-0.77	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.88085	0.6342	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90950	0.4804	10	0.87932	D	0	-11.0303	15.0943	0.72220	0.0:0.0:1.0:0.0	.	151	Q9BPU9	B9D2_HUMAN	I	151	ENSP00000243578:T151I	ENSP00000243578:T151I	T	-	2	0	B9D2	46552521	1.000000	0.71417	0.910000	0.35882	0.941000	0.58515	8.460000	0.90369	2.077000	0.62373	0.450000	0.29827	ACA	B9D2	-	pfam_B9_dom	ENSG00000123810		0.647	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D2	HGNC	protein_coding	OTTHUMT00000463489.1	-	0	79	0	G	NM_030578		41860681	-1	tier1	-	no_errors	ENST00000243578	ensembl	human	known	74_37	missense	20.00	64	16	SNP	0.998	A	A	41860681	G	A	41860681	3	1	87	1	0	0	0	0	1	0	0	0	1279	1377	48	3	79	3	B9D2	19	41860681	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	226845	41860681	17268302	1800	24924											
GRIK5	2901	genome.wustl.edu	37	chr19	42509894	42509894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcggcatgccaatgccGtagcccttggtgtcgaggag	7	7	14	13	3	0	0	0	0	0	0	1	2	0	1	4	3	4	2	4	3	2	2	rs139193138		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42509894G>A	ENST00000262895.3	-	16	2243	c.2244C>T	c.(2242-2244)taC>taT	p.Y748Y	GRIK5_ENST00000301218.4_Silent_p.Y748Y|GRIK5_ENST00000593562.1_Silent_p.Y748Y	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	748					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				TGCCAATGCCGTAGCCCTTGG	0.647																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	88	60	69		2244	-0.8	1	19	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRIK5	NM_002088.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		748/981	42509894	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2244C>T	19.37:g.42509894G>A			Q8WWG8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Y748	ENST00000262895.3	37	c.2244	CCDS12595.1	19	.	.	.	.	.	.	.	.	.	.	G	8.405	0.842801	0.16963	2.27E-4	2.33E-4	ENSG00000105737	ENST00000454993	.	.	.	5.23	-0.843	0.10744	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51419	-0.8708	4	.	.	.	.	10.2809	0.43539	0.3967:0.0:0.6033:0.0	.	.	.	.	W	125	.	.	R	-	1	2	GRIK5	47201734	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.494000	0.35616	-0.077000	0.12752	-0.253000	0.11424	CGG	GRIK5	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105737		0.647	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK5	HGNC	protein_coding	OTTHUMT00000463453.1		0	49	0	G			42509894	-1			no_errors	ENST00000301218	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	A	A	42509894	G	A	42509894	2	1	87	1	0	0	0	0	0	0	0	1	6804	1140	40	1		1	GRIK5	19	42509894	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	649213	42509894	16619089	1801	24925											
ERF	2077	genome.wustl.edu	37	chr19	42753368	42753368	+	Frame_Shift_Del	DEL	C	C	-																															tgaaggagaagtgggagcctCcccctgagccgctgggcccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42753368delC	ENST00000222329.4	-	4	1053	c.896delG	c.(895-897)ggafs	p.G300fs	ERF_ENST00000595941.1_5'Flank|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Del_p.G225fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	300					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGGGAGCCTCCCCCTGAGCC	0.677																																																	0													36	40	39					19																	42753368		2201	4297	6498	SO:0001589	frameshift_variant	0			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"Ets2 repressor factor"	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.896delG	19.37:g.42753368delC	ENSP00000222329:p.Gly300fs		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.G299fs	ENST00000222329.4	37	c.896	CCDS12600.1	19																																																																																			ERF	-	NULL	ENSG00000105722		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1		0	44	0	C	NM_006494		42753368	-1	tier1		no_errors	ENST00000222329	ensembl	human	known	74_37	frame_shift_del	23.21	43	13	DEL	0.941	-	-	42753368	C	-	42753368	7	5	87	1	0	1	0	1	0	0	0	0	5237	855	30	0	754	0	ERF	19	42753368	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	243474	42753368	16375615	1802	24926											
CIC	23152	genome.wustl.edu	37	chr19	42797376	42797376	+	Frame_Shift_Del	DEL	C	C	-																															actcccacggcccggagcagCcccccactgcccccacctgc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42797376delC	ENST00000575354.2	+	15	3778	c.3738delC	c.(3736-3738)agcfs	p.S1246fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.S1244fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.S2153fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1246	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P1248fs*54(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCGGAGCAGCCCCCCACTGC	0.706			"Mis, F, S"		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	1	Deletion - Frameshift(1)	ovary(1)											9	10	10					19																	42797376		2154	4254	6408	SO:0001589	frameshift_variant	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3738delC	19.37:g.42797376delC	ENSP00000458663:p.Ser1246fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P1248fs	ENST00000575354.2	37	c.3738	CCDS12601.1	19																																																																																			CIC	-	NULL	ENSG00000079432		0.706	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2		0	30	0	C			42797376	1	tier1		no_errors	ENST00000575354	ensembl	human	known	74_37	frame_shift_del	27.27	24	9	DEL	0.989	-	-	42797376	C	-	42797376	7	5	87	1	0	1	0	1	0	0	0	0	3431	738	26	0	3796	0	CIC	19	42797376	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	44008	42797376	16331607	1803	24927											
MEGF8	1954	genome.wustl.edu	37	chr19	42840447	42840447	+	Frame_Shift_Del	DEL	C	C	-																															ccactccatggtgttccatgCcccctcccgtgccctgctgg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42840447delC	ENST00000251268.6	+	6	1193	c.1193delC	c.(1192-1194)gccfs	p.A398fs	MEGF8_ENST00000334370.4_Frame_Shift_Del_p.A398fs	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	398					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTTCCATGCCCCCTCCCGT	0.667																																																	0													24	28	26					19																	42840447		2060	4168	6228	SO:0001589	frameshift_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1193delC	19.37:g.42840447delC	ENSP00000251268:p.Ala398fs		A8KAY0|O75097	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.S400fs	ENST00000251268.6	37	c.1193		19																																																																																			MEGF8	-	NULL	ENSG00000105429		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	67	0	C	NM_001410		42840447	1	tier1		no_errors	ENST00000251268	ensembl	human	known	74_37	frame_shift_del	15.00	51	9	DEL	0.982	-	-	42840447	C	-	42840447	7	5	87	1	0	1	0	1	0	0	0	0	9501	739	26	0	1215	0	MEGF8	19	42840447	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	43071	42840447	16288536	1804	24928											
LIPE	3991	genome.wustl.edu	37	chr19	42911556	42911556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggtgcctgctgggggCgcggccacagctccaggctc	4	5	18	14	3	0	0	0	0	0	0	2	0	1	0	3	6	4	3	3	6	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:42911556C>T	ENST00000244289.4	-	6	2183	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	636					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGCTGGGGGCGCGGCCACAG	0.657																																																	0													22	25	24					19																	42911556		2202	4298	6500	SO:0001583	missense	0			L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.1907G>A	19.37:g.42911556C>T	ENSP00000244289:p.Arg636His		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase	p.R636H	ENST00000244289.4	37	c.1907	CCDS12607.1	19	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751714	0.69533	.	.	ENSG00000079435	ENST00000244289	T	0.09630	2.96	3.22	3.22	0.36961	.	0.428777	0.22475	N	0.059575	T	0.18964	0.0455	L	0.32530	0.975	0.34600	D	0.716435	D	0.89917	1.0	D	0.78314	0.991	T	0.11012	-1.0605	10	0.72032	D	0.01	-5.3759	8.7195	0.34432	0.0:0.8846:0.0:0.1154	.	636	Q05469	LIPS_HUMAN	H	636	ENSP00000244289:R636H	ENSP00000244289:R636H	R	-	2	0	LIPE	47603396	0.015000	0.18098	0.901000	0.35422	0.936000	0.57629	1.692000	0.37731	2.126000	0.65437	0.561000	0.74099	CGC	LIPE	-	pfam_Steryl_acetyl_hydrolase	ENSG00000079435		0.657	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPE	HGNC	protein_coding	OTTHUMT00000463861.1		0	53	0	C	NM_005357		42911556	-1			no_errors	ENST00000244289	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.938	T	T	42911556	C	T	42911556	3	4	87	1	0	0	0	0	1	0	0	0	8851	768	27	1	1343	1	LIPE	19	42911556	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	71109	42911556	16217427	1805	24929											
ZNF223	7766	genome.wustl.edu	37	chr19	44571252	44571253	+	Frame_Shift_Ins	INS	-	-	A																															cataagagactccattgccgINSaaaaaaaccattcaaatgtg																								rs183080513|rs562593501		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:44571252_44571253insA	ENST00000434772.3	+	5	1526_1527	c.1271_1272insA	c.(1270-1275)cgaaaafs	p.RK424fs	ZNF223_ENST00000591793.1_Frame_Shift_Ins_p.RK534fs	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	424					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTCCATTGCCGAAAAAAACCAT	0.411																																																	0										2,4254		0,2,2126						1.4	0			105	8,8240		0,8,4116	no	frameshift	ZNF223	NM_013361.4		0,10,6242	A1A1,A1R,RR		0.097,0.047,0.08				10,12494				SO:0001589	frameshift_variant	0			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"Zinc fingers, C2H2-type", "-"	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.1278dupA	19.37:g.44571259_44571259dupA	ENSP00000401947:p.Arg424fs		Q15736|Q8TBJ3|Q9HCA9	Frame_Shift_Ins	INS	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P537fs	ENST00000434772.3	37	c.1601_1602	CCDS12635.1	19																																																																																			ZNF223	-	pfscan_Znf_C2H2	ENSG00000267022		0.411	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Uniprot_gn	protein_coding	OTTHUMT00000460469.2		0	38	0	-			44571253	1	tier1		no_errors	ENST00000591793	ensembl	human	known	74_37	frame_shift_ins	21.21	26	7	INS	0.000:0.000	A	A	44571253	-	A	44571252	7	5	87	1	0	1	1	0	0	0	0	0	17825	1058	37	0	1285	0	ZNF223	19	44571252	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	1659696	44571252	14557731	1806	24930											
RELB	5971	genome.wustl.edu	37	chr19	45537526	45537526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacggcgtggacaagaagcGgaaacgggggatgcccgacg	11	3	17	10	6	0	1	0	0	0	1	0	5	0	4	1	5	4	0	1	5	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:45537526G>A	ENST00000221452.8	+	10	1382	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	RELB_ENST00000505236.1_Missense_Mutation_p.R408Q|RELB_ENST00000540120.1_Missense_Mutation_p.R411Q	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	411	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.			R -> A (in Ref. 1; AAA36127). {ECO:0000305}.	antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R411Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GACAAGAAGCGGAAACGGGGG	0.498																																																	1	Substitution - Missense(1)	ovary(1)											54	57	56					19																	45537526		1951	4146	6097	SO:0001583	missense	0			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1232G>A	19.37:g.45537526G>A	ENSP00000221452:p.Arg411Gln		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R411Q	ENST00000221452.8	37	c.1232	CCDS46110.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557926	0.86231	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.38560	1.13;1.13;1.13	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000008	T	0.66557	0.2801	M	0.87758	2.905	0.48236	D	0.999615	D	0.89917	1.0	D	0.67900	0.954	T	0.72887	-0.4156	10	0.87932	D	0	-8.3957	13.2639	0.60122	0.0:0.0:1.0:0.0	.	408	D6R992	.	Q	411;411;408	ENSP00000221452:R411Q;ENSP00000445542:R411Q;ENSP00000423287:R408Q	ENSP00000221452:R411Q	R	+	2	0	RELB	50229366	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.501000	0.84356	0.563000	0.77884	CGG	RELB	-	superfamily_Ig_E-set	ENSG00000104856		0.498	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELB	HGNC	protein_coding	OTTHUMT00000367361.2	-	0	125	0	G			45537526	1	tier1	-	no_errors	ENST00000221452	ensembl	human	known	74_37	missense	25.35	105	36	SNP	1.000	A	A	45537526	G	A	45537526	3	1	87	1	0	0	0	0	1	0	0	0	13262	1116	39	1	1262	1	RELB	19	45537526	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	966274	45537526	13591457	1807	24931											
PPP1R13L	10848	genome.wustl.edu	37	chr19	45899677	45899677	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctttcggaggccgccGgcgcagcgtcaggtcgtctg	4	7	16	14	6	2	0	1	0	1	0	4	1	2	1	3	5	1	2	3	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:45899677G>T	ENST00000418234.2	-	5	808	c.730C>A	c.(730-732)Cgg>Agg	p.R244R	PPP1R13L_ENST00000360957.5_Silent_p.R244R	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	244	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGAGGCCGCCGGCGCAGCGTC	0.652																																					Pancreas(61;1447 1663 31419 50578)												0													48	53	51					19																	45899677		2203	4300	6503	SO:0001819	synonymous_variant	0			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"Ankyrin repeat domain containing"	18838	protein-coding gene	gene with protein product		607463	"protein phosphatase 1, regulatory (inhibitor) subunit 13 like"			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.730C>A	19.37:g.45899677G>T			Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Silent	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.R244	ENST00000418234.2	37	c.730	CCDS33050.1	19																																																																																			PPP1R13L	-	NULL	ENSG00000104881		0.652	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPP1R13L	HGNC	protein_coding	OTTHUMT00000457586.1	-	0	82	0	G	NM_006663		45899677	-1	tier1	-	no_errors	ENST00000360957	ensembl	human	known	74_37	silent	16.67	59	12	SNP	1.000	T	T	45899677	G	T	45899677	2	4	87	1	0	0	0	0	0	0	0	1	12400	1115	39	2		2	PPP1R13L	19	45899677	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	362151	45899677	13229306	1808	24932											
VASP	7408	genome.wustl.edu	37	chr19	46025800	46025800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggccccaggcctggcCgcagctattgctggagccaa	6	6	15	14	1	0	0	0	0	0	0	0	1	0	1	5	5	3	4	5	5	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46025800C>T	ENST00000245932.6	+	6	1037	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	227	EVH2 block A.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CAGGCCTGGCCGCAGCTATTG	0.697																																																	0													3	4	3					19																	46025800		1715	3772	5487	SO:0001819	synonymous_variant	0				CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552		ENST00000245932.6:c.681C>T	19.37:g.46025800C>T			B2RBT9|Q6PIZ1|Q93035	Missense_Mutation	SNP	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.R78C	ENST00000245932.6	37	c.232	CCDS33051.1	19																																																																																			VASP	-	smart_WH1/EVH1,pfscan_WH1/EVH1	ENSG00000125753		0.697	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASP	HGNC	protein_coding	OTTHUMT00000459589.1	-	0	45	0	C			46025800	1	tier1	-	no_errors	ENST00000586014	ensembl	human	known	74_37	missense	46.88	16	15	SNP	0.005	T	T	46025800	C	T	46025800	2	4	87	1	0	0	0	0	0	0	0	1	17177	639	23	1		1	VASP	19	46025800	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	126123	46025800	13103183	1809	24933											
EML2	24139	genome.wustl.edu	37	chr19	46129994	46129994	+	Frame_Shift_Del	DEL	C	C	-																															cttgccgcttgctcaagctgCccccctccaaggtccagaag																								rs149378245		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46129994delC	ENST00000245925.3	-	8	760	c.710delG	c.(709-711)ggcfs	p.G237fs	EML2_ENST00000536630.1_Frame_Shift_Del_p.G384fs|EML2_ENST00000587152.1_Frame_Shift_Del_p.G438fs|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000589876.1_Frame_Shift_Del_p.G237fs	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	237	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCTCAAGCTGCCCCCCTCCAA	0.597																																																	0													84	83	83					19																	46129994		2203	4300	6503	SO:0001589	frameshift_variant	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"WD repeat domain containing"	18035	protein-coding gene	gene with protein product	"echinoderm MT-associated protein (EMAP)-like protein 70", "microtubule-associated protein like echinoderm EMAP"					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.710delG	19.37:g.46129994delC	ENSP00000245925:p.Gly237fs		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Frame_Shift_Del	DEL	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G438fs	ENST00000245925.3	37	c.1313	CCDS12670.1	19																																																																																			EML2	-	superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000125746		0.597	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1		0	95	0	C	NM_012155		46129994	-1	tier1		no_errors	ENST00000587152	ensembl	human	known	74_37	frame_shift_del	13.64	76	12	DEL	0.991	-	-	46129994	C	-	46129994	7	5	87	1	0	1	0	1	0	0	0	0	5113	739	26	0	1287	0	EML2	19	46129994	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	104194	46129994	12998989	1810	24934											
SYMPK	8189	genome.wustl.edu	37	chr19	46357678	46357678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtcatgccatcgatgcCcggcccctcctcttgagtga	5	10	12	14	2	2	2	1	2	1	0	4	3	3	2	5	3	2	0	5	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46357678C>A	ENST00000245934.7	-	2	320	c.76G>T	c.(76-78)Ggc>Tgc	p.G26C		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	26	Interaction with HSF1.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCATCGATGCCCGGCCCCTCC	0.617																																																	0													63	66	65					19																	46357678		2148	4238	6386	SO:0001583	missense	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.76G>T	19.37:g.46357678C>A	ENSP00000245934:p.Gly26Cys		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.G26C	ENST00000245934.7	37	c.76	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121200	0.37436	.	.	ENSG00000125755	ENST00000245934;ENST00000340643	T	0.35973	1.28	5.04	2.75	0.32379	Armadillo-type fold (1);	0.742041	0.13083	N	0.415165	T	0.23451	0.0567	N	0.22421	0.69	0.25144	N	0.990474	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.13548	-1.0505	10	0.41790	T	0.15	.	8.4178	0.32681	0.1522:0.7636:0.0:0.0842	.	41;26	Q4LE61;Q92797	.;SYMPK_HUMAN	C	26;30	ENSP00000245934:G26C	ENSP00000245934:G26C	G	-	1	0	SYMPK	51049518	0.950000	0.32346	0.996000	0.52242	0.906000	0.53458	2.646000	0.46630	1.342000	0.45619	0.644000	0.83932	GGC	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1		0	29	0	C	NM_004819		46357678	-1			no_errors	ENST00000245934	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.989	A	A	46357678	C	A	46357678	3	1	87	1	0	0	0	0	1	0	0	0	15486	623	22	3	3852	3	SYMPK	19	46357678	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	227684	46357678	12771305	1811	24935											
MYPOP	339344	genome.wustl.edu	37	chr19	46404933	46404933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagctgcgggtagtgggcGcgcacctcgcggatcaggat	7	7	17	10	5	1	1	1	0	0	1	2	3	1	3	1	4	2	3	1	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46404933G>A	ENST00000322217.5	-	2	185	c.99C>T	c.(97-99)cgC>cgT	p.R33R		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	33	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						GGTAGTGGGCGCGCACCTCGC	0.687																																																	0													11	12	12					19																	46404933		2195	4284	6479	SO:0001819	synonymous_variant	0			BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"p42 Myb-related transcription factor, partner of profilin"					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.99C>T	19.37:g.46404933G>A				Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R33	ENST00000322217.5	37	c.99	CCDS33055.1	19																																																																																			MYPOP	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000176182		0.687	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYPOP	HGNC	protein_coding	OTTHUMT00000461684.1	-	0	107	0	G	NM_001012643		46404933	-1	tier1	-	no_errors	ENST00000322217	ensembl	human	known	74_37	silent	37.04	51	30	SNP	1.000	A	A	46404933	G	A	46404933	2	1	87	1	0	0	0	0	0	0	0	1	10137	1074	38	1		1	MYPOP	19	46404933	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	47255	46404933	12724050	1812	24936											
PNMAL1	55228	genome.wustl.edu	37	chr19	46973894	46973894	+	Frame_Shift_Del	DEL	G	G	-																															tgctggttctgggacagggtGgggtggttgagctggagcag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:46973894delG	ENST00000313683.10	-	2	704	c.399delC	c.(397-399)cccfs	p.P133fs	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Frame_Shift_Del_p.P133fs	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	133										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gggacagggtggggtggttga	0.582																																																	0													44	49	47					19																	46973894		2203	4300	6503	SO:0001589	frameshift_variant	0			BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"Paraneoplastic Ma antigens"	25578	protein-coding gene	gene with protein product			"PNMA-like 1"			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.399delC	19.37:g.46973894delG	ENSP00000318131:p.Pro133fs		A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Frame_Shift_Del	DEL	NULL	p.T134fs	ENST00000313683.10	37	c.399	CCDS33059.1	19																																																																																			PNMAL1	-	NULL	ENSG00000182013		0.582	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNMAL1	HGNC	protein_coding	OTTHUMT00000403929.1		0	39	0	G	NM_018215		46973894	-1	tier1		no_errors	ENST00000313683	ensembl	human	known	74_37	frame_shift_del	18.60	35	8	DEL	0.000	-	-	46973894	G	-	46973894	7	5	87	1	0	1	0	1	0	0	0	0	12196	1335	47	0	950	0	PNMAL1	19	46973894	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	568961	46973894	12155089	1813	24937											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47424426	47424426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcggactgcacaagaagCggattgaactgtctgttctt	11	11	10	9	2	2	2	0	1	2	1	3	4	2	4	0	2	3	2	0	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:47424426C>T	ENST00000404338.3	+	1	2494	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	832					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCACAAGAAGCGGATTGAACT	0.423																																																	0													171	160	164					19																	47424426		1914	4122	6036	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2494C>T	19.37:g.47424426C>T	ENSP00000385720:p.Arg832Trp		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R832W	ENST00000404338.3	37	c.2494	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501574	0.64298	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.48836	0.8	5.49	5.49	0.81192	.	0.207880	0.50627	D	0.000116	T	0.67183	0.2866	M	0.62723	1.935	0.54753	D	0.999983	D	0.89917	1.0	D	0.71870	0.975	T	0.68796	-0.5314	10	0.87932	D	0	-22.015	18.5057	0.90896	0.0:1.0:0.0:0.0	.	832	Q9NRY4-2	.	W	832	ENSP00000385720:R832W	ENSP00000324820:R832W	R	+	1	2	ARHGAP35	52116266	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.930000	0.56522	2.743000	0.94032	0.655000	0.94253	CGG	ARHGAP35	-	NULL	ENSG00000160007		0.423	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	-	0	89	0	C	NM_004491		47424426	1	tier1	-	no_errors	ENST00000404338	ensembl	human	known	74_37	missense	30.14	51	22	SNP	1.000	T	T	47424426	C	T	47424426	3	4	87	1	0	0	0	0	1	0	0	0	6822	759	27	1	2496	1	ARHGAP35	19	47424426	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	450532	47424426	11704557	1814	24938											
SAE1	10055	genome.wustl.edu	37	chr19	47634198	47634200	+	In_Frame_Del	DEL	AGG	AGG	-																															agccggcgccatggtggagaAggaggaggctggcggcggca																								rs371247946		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:47634198_47634200delAGG	ENST00000270225.7	+	1	79_81	c.11_13delAGG	c.(10-15)aaggag>aag	p.E6del	SAE1_ENST00000540850.1_Intron|SAE1_ENST00000413379.3_In_Frame_Del_p.E6del|SAE1_ENST00000598840.1_In_Frame_Del_p.E6del|SAE1_ENST00000392776.3_In_Frame_Del_p.E6del	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	6					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		ATGGTGGAGAAGGAGGAGGCTGG	0.729																																																	0																																										SO:0001651	inframe_deletion	0			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"Ubiquitin-like modifier activating enzymes"	30660	protein-coding gene	gene with protein product	"activator Of sumo 1"	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.11_13delAGG	19.37:g.47634204_47634206delAGG	ENSP00000270225:p.Glu6del		B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	In_Frame_Del	DEL	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.E6in_frame_del	ENST00000270225.7	37	c.11_13	CCDS12696.1	19																																																																																			SAE1	-	NULL	ENSG00000142230		0.729	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1		0	142	0	AGG	NM_005500		47634200	1	tier1		no_errors	ENST00000270225	ensembl	human	known	74_37	in_frame_del	21.52	124	34	DEL	1.000:1.000:1.000	-	-	47634200	AGG	-	47634198	7	5	87	1	0	1	0	1	0	0	0	0	13850	72	3	0	13	0	SAE1	19	47634198	In_Frame_Del	DEL	AGG	TCGA-L5-A8NM-01A-11D-A37C-09	209772	47634198	11494785	1815	24939											
GLTSCR1	29998	genome.wustl.edu	37	chr19	48184449	48184449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcctggcgtctagcccGgagaagatcgtcctggggca	6	7	15	13	3	1	2	0	0	1	2	3	3	2	2	4	5	1	1	4	5	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:48184449G>A	ENST00000396720.3	+	6	2216	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	674										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGTCTAGCCCGGAGAAGATCG	0.746																																																	0													2	2	2					19																	48184449		1072	2401	3473	SO:0001819	synonymous_variant	0			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2022G>A	19.37:g.48184449G>A			A8MW01	Silent	SNP	NULL	p.P674	ENST00000396720.3	37	c.2022	CCDS46134.1	19																																																																																			GLTSCR1	-	NULL	ENSG00000063169		0.746	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	-	0	38	0	G	NM_015711		48184449	1	tier1	-	no_errors	ENST00000396720	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.006	A	A	48184449	G	A	48184449	2	1	87	1	0	0	0	0	0	0	0	1	6500	1103	39	1		1	GLTSCR1	19	48184449	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	550251	48184449	10944534	1816	24940											
EHD2	30846	genome.wustl.edu	37	chr19	48219925	48219925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcagcccgaggccatccGcacggtgacctcggccctca	7	4	11	19	4	1	1	1	1	0	0	3	2	2	1	6	3	2	2	6	3	0	0	rs371409023		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:48219925G>A	ENST00000263277.3	+	2	307	c.56G>A	c.(55-57)cGc>cAc	p.R19H	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	19					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GAGGCCATCCGCACGGTGACC	0.687																																																	0								G	HIS/ARG	2,4398		0,2,2198	18	16	17		56	2.8	1	19		17	0,8588		0,0,4294	no	missense	EHD2	NM_014601.3	29	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	benign	19/544	48219925	2,12986	2200	4294	6494	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.56G>A	19.37:g.48219925G>A	ENSP00000263277:p.Arg19His		B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.R19H	ENST00000263277.3	37	c.56	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777513	0.49786	4.55E-4	0.0	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364	T	0.18174	2.23	3.88	2.84	0.33178	.	0.127666	0.50627	D	0.000110	T	0.08044	0.0201	N	0.11201	0.11	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16100	-1.0414	10	0.44086	T	0.13	-16.1741	6.1097	0.20094	0.2345:0.0:0.7655:0.0	.	19	Q9NZN4	EHD2_HUMAN	H	19	ENSP00000263277:R19H	ENSP00000263277:R19H	R	+	2	0	EHD2	52911737	0.968000	0.33430	1.000000	0.80357	0.981000	0.71138	1.163000	0.31798	0.991000	0.38814	0.511000	0.50034	CGC	EHD2	-	NULL	ENSG00000024422		0.687	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	-	0	60	0	G			48219925	1	tier1	-	no_errors	ENST00000263277	ensembl	human	known	74_37	missense	9.64	75	8	SNP	1.000	A	A	48219925	G	A	48219925	3	1	87	1	0	0	0	0	1	0	0	0	4992	1087	38	1	58	1	EHD2	19	48219925	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	35476	48219925	10909058	1817	24941											
LMTK3	114783	genome.wustl.edu	37	chr19	49003054	49003054	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggaccgtctcggggtggGggtggcggcggtgggggccg	3	5	25	8	5	1	0	0	0	1	0	2	1	1	1	2	10	0	0	2	10	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49003054G>T	ENST00000600059.1	-	11	1499	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	LMTK3_ENST00000270238.3_Silent_p.P453P			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	424	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCGGGGTGGGGGTGGCGGCG	0.721																																																	0													2	3	2					19																	49003054		1223	2848	4071	SO:0001819	synonymous_variant	0			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 101"						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.1272C>A	19.37:g.49003054G>T			Q4G0U1	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P453	ENST00000600059.1	37	c.1359		19																																																																																			LMTK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom	ENSG00000142235		0.721	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	-	0	50	0	G	NM_052895		49003054	-1	tier1	-	no_errors	ENST00000270238	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.889	T	T	49003054	G	T	49003054	2	4	87	1	0	0	0	0	0	0	0	1	8890	1219	43	3		3	LMTK3	19	49003054	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	783129	49003054	10125929	1818	24942											
SPHK2	56848	genome.wustl.edu	37	chr19	49129476	49129476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctacacctaccctcgggGccggcgcggggcccggcgca	5	4	14	18	6	1	0	0	0	1	0	2	0	1	0	4	6	2	1	4	6	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49129476G>C	ENST00000245222.4	+	3	734	c.368G>C	c.(367-369)gGc>gCc	p.G123A	SPHK2_ENST00000443164.1_Missense_Mutation_p.G185A|SPHK2_ENST00000601712.1_Missense_Mutation_p.G87A|SPHK2_ENST00000599033.1_3'UTR|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000600537.1_Missense_Mutation_p.G64A|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000598088.1_Missense_Mutation_p.G123A|SPHK2_ENST00000599029.1_Missense_Mutation_p.G87A|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000340932.3_Missense_Mutation_p.G87A|SPHK2_ENST00000599748.1_Missense_Mutation_p.G87A	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	123	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TACCCTcggggccggcgcggg	0.716																																																	0													10	12	11					19																	49129476		2136	4200	6336	SO:0001583	missense	0			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.368G>C	19.37:g.49129476G>C	ENSP00000245222:p.Gly123Ala		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.G185A	ENST00000245222.4	37	c.554	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	G	1.759	-0.487225	0.04352	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.25414	2.15;1.85;1.8	3.77	3.77	0.43336	.	0.143972	0.47455	D	0.000227	T	0.19685	0.0473	L	0.48642	1.525	0.33568	D	0.598193	B;B;B;B	0.28233	0.002;0.012;0.204;0.003	B;B;B;B	0.20955	0.002;0.006;0.032;0.007	T	0.16453	-1.0402	10	0.10111	T	0.7	-54.4138	13.4977	0.61436	0.0:0.0:1.0:0.0	.	64;185;87;123	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	A	123;96;87;185	ENSP00000245222:G123A;ENSP00000341091:G87A;ENSP00000413369:G185A	ENSP00000245222:G123A	G	+	2	0	SPHK2	53821288	1.000000	0.71417	0.991000	0.47740	0.401000	0.30781	1.232000	0.32636	2.113000	0.64589	0.563000	0.77884	GGC	SPHK2	-	NULL	ENSG00000063176		0.716	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	HGNC	protein_coding	OTTHUMT00000466153.1	-	0	17	0	G			49129476	1	tier1	-	no_errors	ENST00000443164	ensembl	human	known	74_37	missense	54.55	5	6	SNP	0.986	C	C	49129476	G	C	49129476	3	2	87	1	0	0	0	0	1	0	0	0	15094	1203	42	5	374	5	SPHK2	19	49129476	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	126422	49129476	9999507	1819	24943											
PLEKHA4	57664	genome.wustl.edu	37	chr19	49344468	49344468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccagggtgagaagccGgggggaggtcgggcgaggga	7	4	21	9	3	0	1	0	1	0	1	2	5	1	3	3	7	1	0	3	7	1	1	rs370885533		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49344468G>A	ENST00000263265.6	-	17	2398	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	615						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GTGAGAAGCCGGGGGGAGGTC	0.711																																																	0									TRP/ARG,	1,4405	2.1+/-5.4	0,1,2202	26	27	26		1843,	-2.1	0	19		26	0,8598		0,0,4299	no	missense,intron	PLEKHA4	NM_020904.2,NM_001161354.1	101,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,	615/780,	49344468	1,13003	2203	4299	6502	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1843C>T	19.37:g.49344468G>A	ENSP00000263265:p.Arg615Trp		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R615W	ENST00000263265.6	37	c.1843	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	g	12.35	1.910497	0.33721	2.27E-4	0.0	ENSG00000105559	ENST00000263265	T	0.27104	1.69	4.27	-2.08	0.07254	.	0.191195	0.25230	N	0.032169	T	0.13200	0.0320	L	0.27053	0.805	0.09310	N	1	P	0.51537	0.946	B	0.40565	0.333	T	0.25047	-1.0143	10	0.66056	D	0.02	.	6.1324	0.20213	0.0:0.2866:0.2626:0.4508	.	615	Q9H4M7	PKHA4_HUMAN	W	615	ENSP00000263265:R615W	ENSP00000263265:R615W	R	-	1	2	PLEKHA4	54036280	0.000000	0.05858	0.000000	0.03702	0.630000	0.37929	-0.007000	0.12810	-0.022000	0.13986	0.436000	0.28706	CGG	PLEKHA4	-	NULL	ENSG00000105559		0.711	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	-	0	143	0	G			49344468	-1	tier1	-	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	24.43	99	32	SNP	0.000	A	A	49344468	G	A	49344468	3	1	87	1	0	0	0	0	1	0	0	0	12097	1115	39	1	512	1	PLEKHA4	19	49344468	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	214992	49344468	9784515	1820	24944											
PLEKHA4	57664	genome.wustl.edu	37	chr19	49344558	49344558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcactcatccggggccgggCcaccggggcctagggaggcg	5	3	19	14	4	1	0	1	0	0	0	2	1	2	1	5	8	0	1	5	8	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49344558C>T	ENST00000263265.6	-	17	2308	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	585						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CGGGGCCGGGCCACCGGGGCC	0.647																																																	0													20	23	22					19																	49344558		2202	4297	6499	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1753G>A	19.37:g.49344558C>T	ENSP00000263265:p.Ala585Thr		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A585T	ENST00000263265.6	37	c.1753	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	c	8.606	0.888019	0.17540	.	.	ENSG00000105559	ENST00000263265	T	0.25250	1.81	4.57	1.51	0.23008	.	0.929398	0.08843	N	0.885619	T	0.16171	0.0389	L	0.29908	0.895	0.18873	N	0.999982	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	10	0.10636	T	0.68	.	8.0299	0.30459	0.1569:0.6462:0.1968:0.0	.	585	Q9H4M7	PKHA4_HUMAN	T	585	ENSP00000263265:A585T	ENSP00000263265:A585T	A	-	1	0	PLEKHA4	54036370	0.045000	0.20229	0.521000	0.27850	0.305000	0.27757	0.054000	0.14205	1.037000	0.40024	0.436000	0.28706	GCC	PLEKHA4	-	NULL	ENSG00000105559		0.647	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	-	0	85	0	C			49344558	-1	tier1	-	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	20.00	60	15	SNP	0.160	T	T	49344558	C	T	49344558	3	4	87	1	0	0	0	0	1	0	0	0	12097	739	26	3	602	3	PLEKHA4	19	49344558	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	90	49344558	9784425	1821	24945											
BAX	581	genome.wustl.edu	37	chr19	49459465	49459465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcaggatgattgccGccgtggacacagactccccc	7	8	10	16	2	1	2	0	1	1	1	3	4	2	4	5	2	2	1	5	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49459465G>A	ENST00000345358.7	+	4	296	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	BAX_ENST00000293288.8_Missense_Mutation_p.A82T|BAX_ENST00000354470.3_Missense_Mutation_p.A33T|BAX_ENST00000539787.1_Missense_Mutation_p.A82T|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000415969.2_Missense_Mutation_p.A82T	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GATGATTGCCGCCGTGGACAC	0.567																																																	0													71	77	75					19																	49459465		2203	4300	6503	SO:0001583	missense	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.244G>A	19.37:g.49459465G>A	ENSP00000263262:p.Ala82Thr		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.A82T	ENST00000345358.7	37	c.244	CCDS12742.1	19	.	.	.	.	.	.	.	.	.	.	G	0.327	-0.958502	0.02267	.	.	ENSG00000087088	ENST00000539787;ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	4.05	4.05	0.47172	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.354374	0.29015	N	0.013411	T	0.04770	0.0129	N	0.19112	0.55	0.28733	N	0.902377	B;P;B;P	0.42785	0.098;0.609;0.309;0.79	B;B;B;B	0.26310	0.033;0.021;0.014;0.068	T	0.31779	-0.9931	10	0.12766	T	0.61	-2.9585	12.029	0.53388	0.0:0.0:1.0:0.0	.	33;82;82;82	Q07812-4;Q07812;Q07812-8;Q07812-2	.;BAX_HUMAN;.;.	T	82;82;82;33;82	ENSP00000441413:A82T;ENSP00000263262:A82T;ENSP00000389971:A82T;ENSP00000346461:A33T;ENSP00000293288:A82T	ENSP00000293288:A82T	A	+	1	0	BAX	54151277	0.002000	0.14202	0.008000	0.14137	0.051000	0.14879	0.943000	0.29030	2.549000	0.85964	0.563000	0.77884	GCC	BAX	-	pfam_Blc2_fam,pfscan_Bcl2-like	ENSG00000087088		0.567	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1	-	0	63	0	G	NM_138763		49459465	1	tier1	-	no_errors	ENST00000293288	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.006	A	A	49459465	G	A	49459465	3	1	87	1	0	0	0	0	1	0	0	0	1329	1087	38	1	258	1	BAX	19	49459465	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	114907	49459465	9669518	1822	24946											
HRC	3270	genome.wustl.edu	37	chr19	49657665	49657665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcttcatcctcttcaatcCcgtggccttggtgcctgtga	5	14	8	14	1	4	1	2	1	2	0	6	1	6	1	4	2	1	0	4	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49657665C>A	ENST00000252825.4	-	1	1016	c.830G>T	c.(829-831)gGg>gTg	p.G277V	HRC_ENST00000595625.1_Missense_Mutation_p.G277V	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	277	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTTCAATCCCGTGGCCTTG	0.468																																					Melanoma(37;75 1097 24567 25669 30645)												0													202	153	169					19																	49657665		2203	4300	6503	SO:0001583	missense	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.830G>T	19.37:g.49657665C>A	ENSP00000252825:p.Gly277Val		Q504Y6	Missense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.G277V	ENST00000252825.4	37	c.830	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768495	0.31320	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.30182	1.54	3.33	-0.192	0.13248	.	.	.	.	.	T	0.41971	0.1182	L	0.52905	1.665	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.22906	-1.0203	9	0.39692	T	0.17	-1.019	5.8088	0.18454	0.0:0.6129:0.0:0.3871	.	277	P23327	SRCH_HUMAN	V	277;247	ENSP00000252825:G277V	ENSP00000252825:G277V	G	-	2	0	HRC	54349477	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.363000	0.02592	-0.183000	0.10585	-0.379000	0.06801	GGG	HRC	-	pfam_Hist_rich_Ca-bd	ENSG00000130528		0.468	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1	-	0	59	0	C	NM_002152		49657665	-1	tier1	-	no_errors	ENST00000252825	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.000	A	A	49657665	C	A	49657665	3	1	87	1	0	0	0	0	1	0	0	0	7379	623	22	3	1293	3	HRC	19	49657665	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	198200	49657665	9471318	1823	24947											
ALDH16A1	126133	genome.wustl.edu	37	chr19	49964929	49964929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccggcgcccctcctcctgGcccagctggcgggggagctg	2	5	15	19	3	0	0	0	0	0	0	2	1	2	1	7	5	2	2	7	5	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:49964929G>A	ENST00000293350.4	+	6	794	c.631G>A	c.(631-633)Gcc>Acc	p.A211T	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.A46T|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.A48T|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.A211T	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	211						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCTCCTCCTGGCCCAGCTGGC	0.731																																																	0													8	10	9					19																	49964929		2173	4245	6418	SO:0001583	missense	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.631G>A	19.37:g.49964929G>A	ENSP00000293350:p.Ala211Thr		B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.A211T	ENST00000293350.4	37	c.631	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717392	0.68844	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	4.61	4.61	0.57282	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.102451	0.64402	D	0.000003	D	0.89901	0.6849	M	0.84948	2.725	0.43657	D	0.99607	D;P;D	0.89917	1.0;0.892;1.0	D;P;D	0.91635	0.999;0.724;0.999	D	0.91227	0.5011	10	0.87932	D	0	-17.891	13.7123	0.62675	0.0:0.0:1.0:0.0	.	48;211;211	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	T	211;211;48;46	ENSP00000293350:A211T;ENSP00000410142:A211T;ENSP00000445088:A48T;ENSP00000398675:A46T	ENSP00000293350:A211T	A	+	1	0	ALDH16A1	54656741	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	1.744000	0.38268	2.521000	0.84997	0.585000	0.79938	GCC	ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	ENSG00000161618		0.731	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	-	0	68	0	G	NM_153329		49964929	1	tier1	-	no_errors	ENST00000293350	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	A	A	49964929	G	A	49964929	3	1	87	1	0	0	0	0	1	0	0	0	488	1203	42	3	653	3	ALDH16A1	19	49964929	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	307264	49964929	9164054	1824	24948											
NOSIP	51070	genome.wustl.edu	37	chr19	50059641	50059641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtccaccatgtccttcCgaatcagcttctccacgcat	8	10	7	16	2	2	0	1	0	1	0	6	1	5	0	5	1	1	2	5	1	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50059641C>T	ENST00000596358.1	-	8	825	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	NOSIP_ENST00000339093.3_Missense_Mutation_p.R259Q|NOSIP_ENST00000391853.3_Missense_Mutation_p.R256Q	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	256					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CATGTCCTTCCGAATCAGCTT	0.622																																																	0													110	84	93					19																	50059641		2203	4300	6503	SO:0001583	missense	0			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.767G>A	19.37:g.50059641C>T	ENSP00000470034:p.Arg256Gln		Q96FD2	Missense_Mutation	SNP	pirsf_Nitric_oxide_synth-interacting	p.R256Q	ENST00000596358.1	37	c.767	CCDS12772.1	19	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072302	0.76415	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.76578	-1.03	5.15	4.12	0.48240	Zinc finger, RING/FYVE/PHD-type (1);	0.147912	0.44097	D	0.000481	T	0.70745	0.3259	M	0.70595	2.14	0.38554	D	0.949537	P	0.48503	0.911	B	0.36922	0.236	T	0.74166	-0.3753	10	0.59425	D	0.04	-18.9981	7.158	0.25649	0.0:0.737:0.0:0.263	.	256	Q9Y314	NOSIP_HUMAN	Q	256	ENSP00000375726:R256Q	ENSP00000343497:R256Q	R	-	2	0	NOSIP	54751453	0.687000	0.27671	1.000000	0.80357	0.972000	0.66771	0.783000	0.26802	1.182000	0.42928	0.462000	0.41574	CGG	NOSIP	-	pirsf_Nitric_oxide_synth-interacting	ENSG00000142546		0.622	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOSIP	HGNC	protein_coding	OTTHUMT00000465423.1	-	0	51	0	C			50059641	-1	tier1	-	no_errors	ENST00000391853	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	T	T	50059641	C	T	50059641	3	4	87	1	0	0	0	0	1	0	0	0	10584	652	23	1	146	1	NOSIP	19	50059641	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	94712	50059641	9069342	1825	24949											
PRR12	57479	genome.wustl.edu	37	chr19	50097858	50097858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccagttccgcagtcCttcctggcaaacaggtaagc	8	9	8	16	1	1	0	0	0	1	0	5	0	4	0	5	2	2	4	5	2	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50097858C>A	ENST00000418929.2	+	3	359	c.347C>A	c.(346-348)cCt>cAt	p.P116H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCCGCAGTCCTTCCTGGCAA	0.677																																																	0													32	38	36					19																	50097858		1920	4116	6036	SO:0001583	missense	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.347C>A	19.37:g.50097858C>A	ENSP00000394510:p.Pro116His		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.P116H	ENST00000418929.2	37	c.347	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636810	0.29068	.	.	ENSG00000126464	ENST00000418929	T	0.27256	1.68	4.65	2.49	0.30216	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.33142	D	0.544556	B	0.33940	0.433	B	0.38264	0.269	T	0.35549	-0.9784	8	0.87932	D	0	.	8.4258	0.32729	0.1538:0.763:0.0:0.0832	.	116	Q9ULL5-3	.	H	116	ENSP00000394510:P116H	ENSP00000394510:P116H	P	+	2	0	PRR12	54789670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.984000	0.76186	0.572000	0.29383	0.563000	0.77884	CCT	PRR12	-	NULL	ENSG00000126464		0.677	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	-	0	62	0	C	NM_020719		50097858	1	tier1	-	no_errors	ENST00000418929	ensembl	human	novel	74_37	missense	10.64	42	5	SNP	0.999	A	A	50097858	C	A	50097858	3	1	87	1	0	0	0	0	1	0	0	0	12626	681	24	3	357	3	PRR12	19	50097858	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	38217	50097858	9031125	1826	24950											
PTOV1	53635	genome.wustl.edu	37	chr19	50363527	50363527	+	Frame_Shift_Del	DEL	G	G	-																															tctgatttctcgccgtagatGggggggtagtggttaccccg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50363527delG	ENST00000601675.1	+	12	1346	c.1242delG	c.(1240-1242)atgfs	p.M414fs	AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000391842.1_Frame_Shift_Del_p.M414fs|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000599732.1_Frame_Shift_Del_p.M414fs|PTOV1_ENST00000600603.1_Frame_Shift_Del_p.W359fs|PTOV1_ENST00000601638.1_Frame_Shift_Del_p.M382fs|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000221557.9_Frame_Shift_Del_p.W359fs|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000598325.1_3'UTR			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	414	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCCGTAGATGGGGGGGTAGT	0.657																																																	1	Deletion - Frameshift(1)	large_intestine(1)											24	26	25					19																	50363527		2203	4300	6503	SO:0001589	frameshift_variant	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1242delG	19.37:g.50363527delG	ENSP00000472816:p.Met414fs		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Frame_Shift_Del	DEL	pfam_Mediator_Med25	p.*417fs	ENST00000601675.1	37	c.1242	CCDS12782.1	19																																																																																			PTOV1	-	NULL	ENSG00000104960		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1		0	78	0	G	NM_017432		50363527	1	tier1		no_errors	ENST00000391842	ensembl	human	known	74_37	frame_shift_del	39.73	44	29	DEL	1.000	-	-	50363527	G	-	50363527	7	5	87	1	0	1	0	1	0	0	0	0	12812	1348	47	0	1288	0	PTOV1	19	50363527	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	265669	50363527	8765456	1827	24951											
NUP62	23636	genome.wustl.edu	37	chr19	50411539	50411539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctcctgctccttgcgcCggccctcgcacaccttggtc	2	10	10	19	4	0	0	0	0	0	0	4	0	2	0	5	2	3	3	5	2	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50411539C>A	ENST00000596217.1	-	2	3413	c.1526G>T	c.(1525-1527)cGg>cTg	p.R509L	NUP62_ENST00000413454.1_Missense_Mutation_p.R509L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.R509L|NUP62_ENST00000597029.1_Missense_Mutation_p.R509L|NUP62_ENST00000422090.2_Missense_Mutation_p.R509L|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597723.1_Missense_Mutation_p.R433L|IL4I1_ENST00000595948.1_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	509					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTCCTTGCGCCGGCCCTCGCA	0.632																																																	0													61	55	57					19																	50411539		2203	4300	6503	SO:0001583	missense	0			X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"nuclear pore glycoprotein p62"	605815	"nucleoporin 62kD"			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1526G>T	19.37:g.50411539C>A	ENSP00000471191:p.Arg509Leu		B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Missense_Mutation	SNP	pfam_Nucleoporin_NSP1_C	p.R509L	ENST00000596217.1	37	c.1526	CCDS12788.1	19	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331570	0.60853	.	.	ENSG00000213024	ENST00000352066;ENST00000422090;ENST00000413454	T;T;T	0.37411	1.2;1.2;1.2	5.26	4.23	0.50019	Nucleoporin, NSP1-like, C-terminal (1);	0.090183	0.44902	U	0.000416	T	0.30293	0.0760	L	0.46947	1.48	0.54753	D	0.999981	P	0.40000	0.698	B	0.37198	0.243	T	0.05533	-1.0879	9	.	.	.	-8.2377	11.9739	0.53081	0.0:0.9146:0.0:0.0854	.	509	P37198	NUP62_HUMAN	L	509	ENSP00000305503:R509L;ENSP00000407331:R509L;ENSP00000387991:R509L	.	R	-	2	0	NUP62	55103351	0.988000	0.35896	0.287000	0.24848	0.975000	0.68041	2.626000	0.46460	1.374000	0.46228	0.655000	0.94253	CGG	NUP62	-	NULL	ENSG00000213024		0.632	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUP62	HGNC	protein_coding	OTTHUMT00000464991.1	-	0	26	0	C	NM_153719		50411539	-1	tier1	-	no_errors	ENST00000352066	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.958	A	A	50411539	C	A	50411539	3	1	87	1	0	0	0	0	1	0	0	0	10807	652	23	2	46	2	NUP62	19	50411539	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	48012	50411539	8717444	1828	24952											
MYH14	79784	genome.wustl.edu	37	chr19	50784954	50784954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaggccctgacccagcGcctggcagaaaagacagaga	12	2	14	13	2	0	4	0	1	0	3	0	6	0	4	4	3	1	1	4	3	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50784954G>A	ENST00000596571.1	+	30	4271	c.4271G>A	c.(4270-4272)cGc>cAc	p.R1424H	MYH14_ENST00000440075.2_Missense_Mutation_p.R1465H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1465H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1432H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1457H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1432H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1465H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1424					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGACCCAGCGCCTGGCAGAA	0.746																																																	0													10	16	14					19																	50784954		1954	4066	6020	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4271G>A	19.37:g.50784954G>A	ENSP00000472819:p.Arg1424His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1465H	ENST00000596571.1	37	c.4394	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286594	0.80803	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	3.75	3.75	0.43078	Myosin tail (1);	.	.	.	.	T	0.79173	0.4401	L	0.33339	1.005	0.34889	D	0.745369	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.66847	0.912;0.947;0.94	T	0.78319	-0.2250	9	0.17832	T	0.49	.	13.5192	0.61557	0.0:0.0:1.0:0.0	.	1465;1424;1432	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1424;1465;1457;1432;1465	ENSP00000406273:R1465H;ENSP00000366169:R1457H;ENSP00000407879:R1432H;ENSP00000262269:R1465H	ENSP00000262269:R1465H	R	+	2	0	MYH14	55476766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.992000	0.63889	2.126000	0.65437	0.555000	0.69702	CGC	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.746	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2		0	24	0	G	NM_024729		50784954	1			no_errors	ENST00000262269	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A	A	50784954	G	A	50784954	3	1	87	1	0	0	0	0	1	0	0	0	10071	1087	38	1	4520	1	MYH14	19	50784954	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	373415	50784954	8344029	1829	24953											
C19orf63	284361	genome.wustl.edu	37	chr19	50985132	50985132	+	Intron	DEL	G	G	-																															ccccagtggcacatcatcctGgggggggccgtgttgctcac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:50985132delG	ENST00000334976.6	+	7	724				EMC10_ENST00000376918.3_Frame_Shift_Del_p.L231fs|CTD-2545M3.2_ENST00000598194.1_RNA|EMC10_ENST00000598585.1_Intron	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.A234fs*56(1)									ACATCATCCTGGGGGGGGCCG	0.736																																																	1	Insertion - Frameshift(1)	large_intestine(1)							,	77,52,3703		3,0,71,2,48,1792					,	3.7	1			8	210,155,7453		5,1,199,6,142,3556	no	intron,codingComplex	C19orf63	NM_206538.2,NM_175063.4	,	8,1,270,8,190,5348	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6687,3.3664,4.2403	,	,		287,207,11156				SO:0001627	intron_variant	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-274G>-	19.37:g.50985132delG			Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Frame_Shift_Del	DEL	NULL	p.A234fs	ENST00000334976.6	37	c.693	CCDS12796.1	19																																																																																			EMC10	-	NULL	ENSG00000161671		0.736	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2		0	82	0	G	NM_175063		50985132	1	tier1		no_errors	ENST00000376918	ensembl	human	known	74_37	frame_shift_del	20.00	80	20	DEL	1.000	-	-	50985132	G	-	50985132	6	5	87	0	1	1	0	1	0	0	0	0	1952	1335	47	0		0	C19orf63	19	50985132	Intron	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	200178	50985132	8143851	1830	24954											
ASPDH	554235	genome.wustl.edu	37	chr19	51015803	51015803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtccctcaagccggaagCcatcggggtgtgtggccatg	6	7	17	11	2	1	0	1	0	0	0	3	1	2	1	4	6	2	0	4	6	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51015803C>T	ENST00000389208.4	-	5	528	c.467G>A	c.(466-468)gGc>gAc	p.G156D	JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.G51D|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	156					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						AAGCCGGAAGCCATCGGGGTG	0.672																																																	0													16	22	20					19																	51015803		2201	4298	6499	SO:0001583	missense	0				CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.467G>A	19.37:g.51015803C>T	ENSP00000373860:p.Gly156Asp		Q6NZ37	Missense_Mutation	SNP	pfam_Asp_DH,pfam_Asp/hSer_DH_NAD-bd	p.G156D	ENST00000389208.4	37	c.467	CCDS46153.1	19	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469847	0.84533	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.45276	0.95;0.9	3.9	3.9	0.45041	.	0.077999	0.52532	D	0.000072	T	0.50565	0.1623	L	0.36672	1.1	0.43714	D	0.996186	D;D	0.76494	0.999;0.981	D;P	0.68765	0.96;0.813	T	0.50931	-0.8769	10	0.52906	T	0.07	-18.7047	11.763	0.51914	0.0:1.0:0.0:0.0	.	156;51	A6ND91;A6ND91-2	ASPD_HUMAN;.	D	51;156	ENSP00000366114:G51D;ENSP00000373860:G156D	ENSP00000366114:G51D	G	-	2	0	ASPDH	55707615	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	2.638000	0.46562	1.908000	0.55244	0.561000	0.74099	GGC	ASPDH	-	NULL	ENSG00000204653		0.672	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPDH	HGNC	protein_coding	OTTHUMT00000464861.1	-	0	76	0	C	NM_001024656		51015803	-1	tier1	-	no_errors	ENST00000389208	ensembl	human	known	74_37	missense	8.33	66	6	SNP	0.999	T	T	51015803	C	T	51015803	3	4	87	1	0	0	0	0	1	0	0	0	1052	739	26	3	396	3	ASPDH	19	51015803	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	30671	51015803	8113180	1831	24955											
KLK4	9622	genome.wustl.edu	37	chr19	51410328	51410328	+	Frame_Shift_Del	DEL	C	C	-																															tacccgttgcagatcaggggCcccccagagtcaccctgttg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51410328delC	ENST00000324041.1	-	5	626	c.627delG	c.(625-627)gggfs	p.G209fs	KLK4_ENST00000431178.2_3'UTR|KLK4_ENST00000597441.1_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		AGATCAGGGGCCCCCCAGAGT	0.527																																																	0													39	40	40					19																	51410328		2203	4300	6503	SO:0001589	frameshift_variant	0			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"Kallikreins", "Serine peptidases / Serine peptidases"	6365	protein-coding gene	gene with protein product		603767	"kallikrein 4 (prostase, enamel matrix, prostate)"	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.627delG	19.37:g.51410328delC	ENSP00000326159:p.Gly209fs		Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Frame_Shift_Del	DEL	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L211fs	ENST00000324041.1	37	c.627	CCDS12809.1	19																																																																																			KLK4	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000167749		0.527	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1		0	64	0	C	NM_004917		51410328	-1			no_errors	ENST00000324041	ensembl	human	known	74_37	frame_shift_del	12.96	47	7	DEL	0.723	0	-	51410328	C	-	51410328	7	5	87	1	0	1	0	1	0	0	0	0	8433	726	26	0	141	0	KLK4	19	51410328	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	394525	51410328	7718655	1832	24956											
LIM2	3982	genome.wustl.edu	37	chr19	51883833	51883833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccagtccccaaagcggCggcccaggaagctgacggtg	9	3	15	14	4	0	1	0	1	0	0	1	2	1	2	4	4	3	1	4	4	2	0	rs371415135		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51883833C>T	ENST00000596399.1	-	4	433	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LIM2_ENST00000221973.3_Missense_Mutation_p.R171H	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	129					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAAAGCGGCGGCCCAGGAA	0.627																																																	0													104	105	105					19																	51883833		2203	4300	6503	SO:0001583	missense	0				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.386G>A	19.37:g.51883833C>T	ENSP00000472090:p.Arg129His		Q6B083|Q9BXD0|Q9HAR5	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.R171H	ENST00000596399.1	37	c.512	CCDS59415.1	19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148262	0.78001	.	.	ENSG00000105370	ENST00000221973	D	0.89196	-2.48	4.73	3.7	0.42460	.	0.069759	0.56097	D	0.000021	D	0.89136	0.6629	L	0.40543	1.245	0.39623	D	0.970065	D;D	0.89917	0.996;1.0	P;D	0.65773	0.888;0.938	D	0.88558	0.3121	10	0.59425	D	0.04	-30.4197	6.3299	0.21264	0.0:0.7947:0.0:0.2053	.	129;171	P55344;P55344-2	LMIP_HUMAN;.	H	171	ENSP00000221973:R171H	ENSP00000221973:R171H	R	-	2	0	LIM2	56575645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.997000	0.57016	2.178000	0.69098	0.655000	0.94253	CGC	LIM2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000105370		0.627	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	HGNC	protein_coding	OTTHUMT00000464247.1		0	42	0	C	NM_030657		51883833	-1			no_errors	ENST00000221973	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	51883833	C	T	51883833	3	4	87	1	0	0	0	0	1	0	0	0	8824	768	27	1	143	1	LIM2	19	51883833	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	473505	51883833	7245150	1833	24957											
LIM2	3982	genome.wustl.edu	37	chr19	51885678	51885678	+	Frame_Shift_Del	DEL	A	A	-																															gtgggcttactcacttgaggAaaaaaacatgatgccagcag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:51885678delA	ENST00000596399.1	-	3	366	c.319delT	c.(319-321)tccfs	p.S108fs	LIM2_ENST00000221973.3_Frame_Shift_Del_p.S150fs	NM_001161748.1	NP_001155220.1	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	108					cell-cell junction assembly (GO:0007043)|lens development in camera-type eye (GO:0002088)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		TCACTTGAGGAAAAAAACATG	0.562																																																	0													126	109	115					19																	51885678		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12831.1, CCDS59415.1	19q13.4	2008-07-17	2002-08-29			ENSG00000105370			6610	protein-coding gene	gene with protein product		154045	"lens intrinsic membrane protein 2 (19kD)"			1606837	Standard	NM_030657		Approved	MP19, MP17	uc002pwl.2	P55344		ENST00000596399.1:c.319delT	19.37:g.51885678delA	ENSP00000472090:p.Ser108fs		Q6B083|Q9BXD0|Q9HAR5	Frame_Shift_Del	DEL	pfam_PMP22/EMP/MP20/Claudin,prints_LMIP,prints_PMP22_EMP_MP20	p.S149fs	ENST00000596399.1	37	c.445	CCDS59415.1	19																																																																																			LIM2	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000105370		0.562	LIM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIM2	HGNC	protein_coding	OTTHUMT00000464247.1		0	31	0	A	NM_030657		51885678	-1	tier1		no_errors	ENST00000221973	ensembl	human	known	74_37	frame_shift_del	25.58	32	11	DEL	0.901	-	-	51885678	A	-	51885678	7	5	87	1	0	1	0	1	0	0	0	0	8824	246	9	0	214	0	LIM2	19	51885678	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	1845	51885678	7243305	1834	24958											
FPR3	2359	genome.wustl.edu	37	chr19	52327515	52327515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacaataagtactacgaatGgggacacatactgtattttc	14	12	7	8	1	0	0	0	0	0	0	1	2	0	1	0	2	4	2	0	2	8	8			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:52327515G>T	ENST00000339223.4	+	2	693	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	FPR3_ENST00000595991.1_Missense_Mutation_p.G172W	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	172					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACTACGAATGGGGACACATA	0.448																																																	0													178	162	168					19																	52327515		2203	4300	6503	SO:0001583	missense	0				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"GPCR / Class A : Formyl peptide receptors"	3828	protein-coding gene	gene with protein product		136539	"formyl peptide receptor-like 2"	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.514G>T	19.37:g.52327515G>T	ENSP00000341821:p.Gly172Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.G172W	ENST00000339223.4	37	c.514	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	11.43	1.637033	0.29157	.	.	ENSG00000187474	ENST00000339223	T	0.38240	1.15	2.34	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.167732	0.41823	D	0.000816	T	0.64271	0.2583	H	0.95780	3.72	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55270	-0.8167	10	0.87932	D	0	.	5.0237	0.14374	0.1766:0.0:0.8234:0.0	.	172	P25089	FPR3_HUMAN	W	172	ENSP00000341821:G172W	ENSP00000341821:G172W	G	+	1	0	FPR3	57019327	0.000000	0.05858	0.024000	0.17045	0.062000	0.15995	-0.012000	0.12699	1.323000	0.45263	0.467000	0.42956	GGG	FPR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000187474		0.448	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	HGNC	protein_coding	OTTHUMT00000466914.1	-	0	60	0	G	NM_002030		52327515	1	tier1	-	no_errors	ENST00000339223	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.000	T	T	52327515	G	T	52327515	3	4	87	1	0	0	0	0	1	0	0	0	6064	1348	47	3	516	3	FPR3	19	52327515	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	441837	52327515	6801468	1835	24959											
ZNF615	284370	genome.wustl.edu	37	chr19	52505112	52505112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctgttgtgcaagtttcTtctcctcgttccaatttgga	5	19	7	10	1	4	0	0	0	4	0	7	1	5	1	2	1	1	4	2	1	2	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:52505112T>G	ENST00000602063.1	-	5	541	c.192A>C	c.(190-192)gaA>gaC	p.E64D	ZNF615_ENST00000598071.1_Missense_Mutation_p.E64D|ZNF615_ENST00000597747.1_Missense_Mutation_p.E64D|ZNF615_ENST00000594083.1_Missense_Mutation_p.E64D|ZNF615_ENST00000391795.3_Missense_Mutation_p.E69D|ZNF615_ENST00000376716.5_Missense_Mutation_p.E64D|ZNF615_ENST00000595114.1_5'Flank			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCAAGTTTCTTCTCCTCGTT	0.478																																																	0													183	140	155					19																	52505112		2203	4300	6503	SO:0001583	missense	0			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.192A>C	19.37:g.52505112T>G	ENSP00000473089:p.Glu64Asp		B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E64D	ENST00000602063.1	37	c.192	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	T	10.72	1.428399	0.25726	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.01005	5.45;5.45	2.84	1.76	0.24704	Krueppel-associated box (3);	.	.	.	.	T	0.01254	0.0041	L	0.54965	1.715	0.09310	N	1	P;P;P;P	0.37330	0.455;0.59;0.59;0.455	B;B;B;B	0.37144	0.123;0.242;0.242;0.123	T	0.47535	-0.9110	9	0.51188	T	0.08	.	5.0258	0.14383	0.2662:0.0:0.0:0.7338	.	69;60;64;64	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	D	64;63;69;63	ENSP00000365906:E64D;ENSP00000375672:E69D	ENSP00000347019:E63D	E	-	3	2	ZNF615	57196924	0.031000	0.19500	0.007000	0.13788	0.078000	0.17371	1.002000	0.29796	0.454000	0.26884	0.533000	0.62120	GAA	ZNF615	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197619		0.478	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	-	0	82	0	T	NM_198480		52505112	-1	tier1	-	no_errors	ENST00000594083	ensembl	human	known	74_37	missense	12.66	69	10	SNP	0.022	G	G	52505112	T	G	52505112	3	3	87	1	0	0	0	0	1	0	0	0	18088	1606	56	4	2011	4	ZNF615	19	52505112	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	177597	52505112	6623871	1836	24960											
ZNF320	162967	genome.wustl.edu	37	chr19	53391430	53391430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcacgtctctgtatagaGtcctctgagcagggtccagg	8	10	12	11	1	3	2	1	1	2	1	6	2	5	2	2	2	1	3	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:53391430G>A	ENST00000595635.1	-	7	593	c.92C>T	c.(91-93)aCt>aTt	p.T31I	ZNF320_ENST00000391781.2_Missense_Mutation_p.T31I|ZNF320_ENST00000597909.1_Missense_Mutation_p.T31I|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTGTATAGAGTCCTCTGAGC	0.493																																																	0													38	38	38					19																	53391430		1460	2583	4043	SO:0001583	missense	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.92C>T	19.37:g.53391430G>A	ENSP00000473091:p.Thr31Ile		Q8NDR6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T31I	ENST00000595635.1	37	c.92	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	8.294	0.818454	0.16607	.	.	ENSG00000182986	ENST00000391781	T	0.01933	4.55	1.98	-1.06	0.10002	Krueppel-associated box (4);	.	.	.	.	T	0.02380	0.0073	L	0.45137	1.4	0.09310	N	1	P	0.52842	0.956	B	0.42555	0.391	T	0.49341	-0.8950	9	0.37606	T	0.19	.	6.6113	0.22753	0.0:0.0:0.3575:0.6424	.	31	A2RRD8	ZN320_HUMAN	I	31	ENSP00000375660:T31I	ENSP00000375660:T31I	T	-	2	0	ZNF320	58083242	0.000000	0.05858	0.013000	0.15412	0.494000	0.33585	0.496000	0.22499	0.137000	0.18759	0.194000	0.17425	ACT	ZNF320	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000182986		0.493	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	-	0	88	0	G	NM_207333		53391430	-1	tier1	-	no_errors	ENST00000391781	ensembl	human	known	74_37	missense	20.25	63	16	SNP	0.005	A	A	53391430	G	A	53391430	3	1	87	1	0	0	0	0	1	0	0	0	17887	1029	36	3	1445	3	ZNF320	19	53391430	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	886318	53391430	5737553	1837	24961											
ZNF813	126017	genome.wustl.edu	37	chr19	53994005	53994005	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatcaacgatgcttcctcAatttcaacatcccaaagaat	14	12	3	12	1	4	1	3	0	1	1	6	2	6	1	2	0	3	1	2	0	6	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:53994005A>G	ENST00000396403.4	+	4	647	c.519A>G	c.(517-519)tcA>tcG	p.S173S	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGCTTCCTCAATTTCAACAT	0.393																																																	0													109	119	116					19																	53994005		2197	4294	6491	SO:0001819	synonymous_variant	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"Zinc fingers, C2H2-type", "-"	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.519A>G	19.37:g.53994005A>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S173	ENST00000396403.4	37	c.519	CCDS46172.1	19																																																																																			ZNF813	-	NULL	ENSG00000198346		0.393	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF813	HGNC	protein_coding	OTTHUMT00000350638.1	-	0	110	0	A	NM_001004301		53994005	1	tier1	-	no_errors	ENST00000396403	ensembl	human	known	74_37	silent	16.33	82	16	SNP	0.009	G	G	53994005	A	G	53994005	2	3	87	1	0	0	0	0	0	0	0	1	18223	117	5	4		4	ZNF813	19	53994005	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	602575	53994005	5134978	1838	24962											
CACNG6	59285	genome.wustl.edu	37	chr19	54496175	54496175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaggagaaccggcggcGgggggccgcgggccggcggc	6	0	23	12	7	0	2	0	0	0	2	0	3	0	2	3	9	1	1	3	9	2	0	rs538013052	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54496175G>A	ENST00000252729.2	+	1	634	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	CACNG6_ENST00000352529.1_Missense_Mutation_p.R15Q|CACNG6_ENST00000346968.2_Missense_Mutation_p.R15Q	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	15					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AAccggcggcggggggccgcg	0.736																																																	0													9	12	11					19																	54496175		1234	2522	3756	SO:0001583	missense	0			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.44G>A	19.37:g.54496175G>A	ENSP00000252729:p.Arg15Gln			Missense_Mutation	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.R15Q	ENST00000252729.2	37	c.44	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	.	20.3	3.963814	0.74131	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.31510	1.51;1.49;1.51	2.97	2.97	0.34412	.	0.571192	0.15452	U	0.261622	T	0.37571	0.1008	N	0.24115	0.695	0.30702	N	0.750143	B;D;D	0.71674	0.414;0.998;0.997	B;D;D	0.75484	0.072;0.986;0.968	T	0.24977	-1.0145	10	0.56958	D	0.05	-15.2774	9.5302	0.39189	0.0:0.0:1.0:0.0	.	15;15;15	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	Q	15	ENSP00000252729:R15Q;ENSP00000319135:R15Q;ENSP00000319097:R15Q	ENSP00000252729:R15Q	R	+	2	0	CACNG6	59187987	0.641000	0.27251	0.928000	0.36995	0.959000	0.62525	1.098000	0.31000	1.671000	0.50874	0.471000	0.43371	CGG	CACNG6	-	prints_VDCC_g6su	ENSG00000130433		0.736	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1		0	9	0	G			54496175	1			no_errors	ENST00000252729	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.972	A	A	54496175	G	A	54496175	3	1	87	1	0	0	0	0	1	0	0	0	2568	1116	39	1	46	1	CACNG6	19	54496175	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	502170	54496175	4632808	1839	24963											
CACNG6	59285	genome.wustl.edu	37	chr19	54502908	54502908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgaatctggcagctgcgGtgatagcagtgctgggcctg	7	9	17	8	1	1	2	0	2	1	0	1	2	1	2	1	4	4	4	1	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54502908G>A	ENST00000252729.2	+	3	1017	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	143					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GGCAGCTGCGGTGATAGCAGT	0.557																																																	0													246	236	240					19																	54502908		2203	4300	6503	SO:0001583	missense	0			AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"Calcium channel subunits"	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.427G>A	19.37:g.54502908G>A	ENSP00000252729:p.Val143Met			Missense_Mutation	SNP	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.V143M	ENST00000252729.2	37	c.427	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	.	14.61	2.587401	0.46110	.	.	ENSG00000130433	ENST00000252729	T	0.70749	-0.51	4.92	3.86	0.44501	.	0.200186	0.41823	D	0.000815	T	0.50514	0.1620	N	0.11560	0.145	0.41376	D	0.987523	B	0.22541	0.071	B	0.28638	0.092	T	0.50145	-0.8862	10	0.37606	T	0.19	-22.6611	9.819	0.40871	0.1008:0.0:0.8992:0.0	.	143	Q9BXT2	CCG6_HUMAN	M	143	ENSP00000252729:V143M	ENSP00000252729:V143M	V	+	1	0	CACNG6	59194720	0.996000	0.38824	0.695000	0.30226	0.815000	0.46073	3.239000	0.51360	2.446000	0.82766	0.561000	0.74099	GTG	CACNG6	-	prints_Claudin	ENSG00000130433		0.557	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	HGNC	protein_coding	OTTHUMT00000139359.1	-	0	47	0	G			54502908	1	tier1	-	no_errors	ENST00000252729	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.454	A	A	54502908	G	A	54502908	3	1	87	1	0	0	0	0	1	0	0	0	2568	1261	44	3	437	3	CACNG6	19	54502908	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6733	54502908	4626075	1840	24964											
TMC4	147798	genome.wustl.edu	37	chr19	54668189	54668189	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctccacggtgcacccCgtagcccagtagacgccata	9	6	10	16	3	0	1	0	0	0	1	1	1	1	1	5	1	4	5	5	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54668189C>T	ENST00000376591.4	-	7	1241	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	TMC4_ENST00000416963.1_5'Flank|TMC4_ENST00000301187.4_Silent_p.T364T|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	370					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGGTGCACCCCGTAGCCCAGT	0.642																																																	0													86	89	88					19																	54668189		2203	4300	6503	SO:0001819	synonymous_variant	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1110G>A	19.37:g.54668189C>T			Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.T364	ENST00000376591.4	37	c.1092	CCDS46174.1	19																																																																																			TMC4	-	NULL	ENSG00000167608		0.642	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0	94	0	C			54668189	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	silent	32.56	58	28	SNP	0.000	T	T	54668189	C	T	54668189	2	4	87	1	0	0	0	0	0	0	0	1	16034	639	23	1		1	TMC4	19	54668189	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	165281	54668189	4460794	1841	24965											
LILRB2	10288	genome.wustl.edu	37	chr19	54778658	54778658	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgggcgtaggtcacaTcctggggggcttcagatgca	7	8	16	10	1	2	1	2	0	0	1	3	1	3	1	1	5	2	5	1	5	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:54778658T>A	ENST00000391749.4	-	14	1947	c.1676A>T	c.(1675-1677)gAt>gTt	p.D559V	LILRB2_ENST00000434421.1_Missense_Mutation_p.D443V|LILRB2_ENST00000314446.5_Missense_Mutation_p.D558V|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391748.1_Missense_Mutation_p.D558V	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	559					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCACATCCTGGGGGGC	0.637																																																	0													79	77	78					19																	54778658		2203	4300	6503	SO:0001583	missense	0			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1676A>T	19.37:g.54778658T>A	ENSP00000375629:p.Asp559Val		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D559V	ENST00000391749.4	37	c.1676	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475174	0.43942	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000434421	T;T;T;T	0.00524	6.88;6.88;6.91;6.82	1.31	1.31	0.21738	.	.	.	.	.	T	0.01124	0.0037	M	0.78049	2.395	0.35670	D	0.813207	D;D	0.69078	0.997;0.994	P;P	0.61800	0.894;0.856	T	0.61237	-0.7103	9	0.87932	D	0	.	4.8943	0.13742	0.0:0.0:0.0:1.0	.	575;559	E7EVY1;Q8N423	.;LIRB2_HUMAN	V	558;558;559;443	ENSP00000375628:D558V;ENSP00000319960:D558V;ENSP00000375629:D559V;ENSP00000410117:D443V	ENSP00000319960:D558V	D	-	2	0	LILRB2	59470470	0.008000	0.16893	0.687000	0.30102	0.189000	0.23516	0.445000	0.21677	0.885000	0.36088	0.246000	0.17985	GAT	LILRB2	-	NULL	ENSG00000131042		0.637	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	HGNC	protein_coding	OTTHUMT00000139510.1	-	0	155	0	T			54778658	-1	tier1	-	no_errors	ENST00000391749	ensembl	human	known	74_37	missense	8.18	101	9	SNP	0.762	A	A	54778658	T	A	54778658	3	1	87	1	0	0	0	0	1	0	0	0	8820	1435	50	5	124	5	LILRB2	19	54778658	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	110469	54778658	4350325	1842	24966											
LILRB4	11006	genome.wustl.edu	37	chr19	55179121	55179121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagacccccaggcagtgacGtatgccaaggtgaaacactc	13	5	11	12	1	0	3	0	2	0	1	1	4	0	3	3	2	2	2	3	2	4	1	rs61738941	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55179121G>A	ENST00000391736.1	+	13	1392	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	LILRB4_ENST00000270452.2_Silent_p.T359T|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000391733.3_Silent_p.T360T|LILRB4_ENST00000430952.2_Silent_p.T358T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	359					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGGCAGTGACGTATGCCAAGG	0.567																																																	0													110	115	113					19																	55179121		2199	4300	6499	SO:0001819	synonymous_variant	0			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1077G>A	19.37:g.55179121G>A			A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Silent	SNP	pfam_Immunoglobulin,pfscan_Ig-like_dom	p.T359	ENST00000391736.1	37	c.1077	CCDS12902.1	19																																																																																			LILRB4	-	NULL	ENSG00000186818		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB4	HGNC	protein_coding	OTTHUMT00000141127.3	-	0	103	0	G			55179121	1	tier1	rs61738941	no_errors	ENST00000270452	ensembl	human	known	74_37	silent	35.00	78	42	SNP	0.000	A	A	55179121	G	A	55179121	2	1	87	1	0	0	0	0	0	0	0	1	8822	1132	40	1		1	LILRB4	19	55179121	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	400463	55179121	3949862	1843	24967											
NLRP7	199713	genome.wustl.edu	37	chr19	55447775	55447775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacagaagtcccggtacgcGgtgtcaggggtgacgttttt	8	10	15	8	4	1	3	1	1	0	2	2	3	2	3	1	4	1	2	1	4	2	3	rs372489727		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55447775G>A	ENST00000590030.1	-	5	2194	c.2154C>T	c.(2152-2154)acC>acT	p.T718T	NLRP7_ENST00000592784.1_Silent_p.T718T|NLRP7_ENST00000328092.5_Silent_p.T690T|NLRP7_ENST00000340844.2_Silent_p.T718T|NLRP7_ENST00000446217.1_Silent_p.T746T|NLRP7_ENST00000588756.1_Silent_p.T718T|NLRP7_ENST00000448121.2_Silent_p.T690T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	718							ATP binding (GO:0005524)	p.T690T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCGGTACGCGGTGTCAGGGG	0.498																																																	1	Substitution - coding silent(1)	skin(1)						G	,,	1,4405	2.1+/-5.4	0,1,2202	87	77	80		2154,2070,2154	-4.4	0	19		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,	718/1038,690/1010,718/981	55447775	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2154C>T	19.37:g.55447775G>A			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T746	ENST00000590030.1	37	c.2238	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	-	0	12	0	G	NM_139176		55447775	-1	tier1	-	no_errors	ENST00000446217	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.000	A	A	55447775	G	A	55447775	2	1	87	1	0	0	0	0	0	0	0	1	10521	1103	39	1		1	NLRP7	19	55447775	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	268654	55447775	3681208	1844	24968											
NLRP2	55655	genome.wustl.edu	37	chr19	55494830	55494830	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaggaattgctgcgatgCgacataagttgtaagggtgg	13	9	14	5	2	0	0	0	0	0	0	0	3	0	1	0	3	4	3	0	3	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55494830C>T	ENST00000543010.1	+	6	1907	c.1764C>T	c.(1762-1764)tgC>tgT	p.C588C	NLRP2_ENST00000427260.2_Silent_p.C565C|NLRP2_ENST00000538819.1_Silent_p.C564C|NLRP2_ENST00000391721.4_Silent_p.C564C|NLRP2_ENST00000537859.1_Silent_p.C566C|NLRP2_ENST00000339757.7_Silent_p.C566C|NLRP2_ENST00000263437.6_Silent_p.C585C|NLRP2_ENST00000448584.2_Silent_p.C588C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	588					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGCTGCGATGCGACATAAGTT	0.547																																																	0													104	90	95					19																	55494830		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"Nucleotide-binding domain and leucine rich repeat containing"	22948	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"	609364	"NACHT, leucine rich repeat and PYD containing 2"	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1764C>T	19.37:g.55494830C>T			B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C588	ENST00000543010.1	37	c.1764	CCDS12913.1	19																																																																																			NLRP2	-	NULL	ENSG00000022556		0.547	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	-	0	54	0	C	NM_017852		55494830	1	tier1	-	no_errors	ENST00000448584	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.001	T	T	55494830	C	T	55494830	2	4	87	1	0	0	0	0	0	0	0	1	10516	776	27	1		1	NLRP2	19	55494830	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	47055	55494830	3634153	1845	24969											
PTPRH	5794	genome.wustl.edu	37	chr19	55697597	55697597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gactcagatctctcacccggCcggcctccatgcagttggtc	6	9	10	16	2	3	1	2	0	1	1	6	2	4	1	4	3	1	2	4	3	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:55697597C>T	ENST00000376350.3	-	16	2796	c.2774G>A	c.(2773-2775)gGc>gAc	p.G925D	PTPRH_ENST00000263434.5_Missense_Mutation_p.G747D	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	925	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCTCACCCGGCCGGCCTCCAT	0.627																																																	0													42	42	42					19																	55697597		2203	4300	6503	SO:0001583	missense	0				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2774G>A	19.37:g.55697597C>T	ENSP00000365528:p.Gly925Asp		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G925D	ENST00000376350.3	37	c.2774	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102949	0.56183	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.14516	2.5;2.5	4.97	3.93	0.45458	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.36200	N	0.002723	T	0.38241	0.1033	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	T	0.39143	-0.9628	10	0.87932	D	0	.	14.7441	0.69477	0.0:0.8541:0.1459:0.0	.	747;925	C9JCH2;Q9HD43	.;PTPRH_HUMAN	D	925;747	ENSP00000365528:G925D;ENSP00000263434:G747D	ENSP00000263434:G747D	G	-	2	0	PTPRH	60389409	0.874000	0.30092	0.111000	0.21465	0.166000	0.22503	3.550000	0.53691	1.256000	0.44068	0.650000	0.86243	GGC	PTPRH	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000080031		0.627	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	-	0	64	0	C			55697597	-1	tier1	-	no_errors	ENST00000376350	ensembl	human	known	74_37	missense	20.34	47	12	SNP	0.976	T	T	55697597	C	T	55697597	3	4	87	1	0	0	0	0	1	0	0	0	12848	739	26	3	593	3	PTPRH	19	55697597	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	202767	55697597	3431386	1846	24970											
CCDC106	29903	genome.wustl.edu	37	chr19	56163825	56163825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgacggggtcctctgccggTacaagaagatcctgggcacc	8	6	13	14	3	1	2	0	0	1	2	3	3	3	2	5	4	2	2	5	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:56163825T>C	ENST00000586790.1	+	5	1460	c.556T>C	c.(556-558)Tac>Cac	p.Y186H	U2AF2_ENST00000450554.2_5'Flank|CCDC106_ENST00000588740.1_Missense_Mutation_p.Y186H|U2AF2_ENST00000308924.4_5'Flank|CCDC106_ENST00000591241.1_Missense_Mutation_p.Y151H|CCDC106_ENST00000308964.3_Missense_Mutation_p.Y186H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Y186H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	186						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCTCTGCCGGTACAAGAAGAT	0.657																																																	0													40	41	41					19																	56163825		2203	4300	6503	SO:0001583	missense	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.556T>C	19.37:g.56163825T>C	ENSP00000465757:p.Tyr186His		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.Y186H	ENST00000586790.1	37	c.556	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339928	0.81911	.	.	ENSG00000173581	ENST00000308964	.	.	.	4.16	3.12	0.35913	.	0.000000	0.64402	D	0.000001	T	0.68026	0.2956	L	0.54323	1.7	0.58432	D	0.999996	D	0.76494	0.999	D	0.85130	0.997	T	0.67444	-0.5669	9	0.87932	D	0	5.8895	9.1553	0.36990	0.1636:0.0:0.0:0.8364	.	186	Q9BWC9	CC106_HUMAN	H	186	.	ENSP00000309681:Y186H	Y	+	1	0	CCDC106	60855637	1.000000	0.71417	0.982000	0.44146	0.980000	0.70556	7.344000	0.79328	0.547000	0.28938	0.454000	0.30748	TAC	CCDC106	-	NULL	ENSG00000173581		0.657	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	-	0	81	0	T	NM_013301		56163825	1	tier1	-	no_errors	ENST00000308964	ensembl	human	known	74_37	missense	10.96	65	8	SNP	1.000	C	C	56163825	T	C	56163825	3	2	87	1	0	0	0	0	1	0	0	0	2748	1638	57	4	574	4	CCDC106	19	56163825	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	466228	56163825	2965158	1847	24971											
NLRP9	338321	genome.wustl.edu	37	chr19	56244406	56244406	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaggattctggaagcatcTttttttgcaacaaactgctc	11	13	9	8	0	2	1	0	0	2	1	3	4	2	3	0	2	5	3	0	2	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:56244406T>A	ENST00000332836.2	-	2	818	c.791A>T	c.(790-792)aAg>aTg	p.K264M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	264	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGAAGCATCTTTTTTTGCAA	0.413																																																	0													59	59	59					19																	56244406		2203	4300	6503	SO:0001583	missense	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"Nucleotide-binding domain and leucine rich repeat containing"	22941	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"	609663	"NACHT, leucine rich repeat and PYD containing 9"	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.791A>T	19.37:g.56244406T>A	ENSP00000331857:p.Lys264Met		B2RN12|Q86W27	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K264M	ENST00000332836.2	37	c.791	CCDS12934.1	19	.	.	.	.	.	.	.	.	.	.	T	12.06	1.824633	0.32237	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.80480	-1.38	2.46	0.123	0.14709	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.88396	0.6425	M	0.84511	2.7	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.77629	-0.2516	9	0.49607	T	0.09	.	9.1312	0.36846	0.0:0.0:0.6753:0.3246	.	264	Q7RTR0	NALP9_HUMAN	M	264	ENSP00000331857:K264M	ENSP00000331857:K264M	K	-	2	0	NLRP9	60936218	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.885000	0.04161	-0.012000	0.14223	0.524000	0.50904	AAG	NLRP9	-	pfscan_NACHT_NTPase	ENSG00000185792		0.413	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1		0	38	0	T	NM_176820		56244406	-1			no_errors	ENST00000332836	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.000	A	A	56244406	T	A	56244406	3	1	87	1	0	0	0	0	1	0	0	0	10523	1609	56	5	2216	5	NLRP9	19	56244406	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	80581	56244406	2884577	1848	24972											
NLRP5	126206	genome.wustl.edu	37	chr19	56538313	56538313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggactacaagagtcaCgtgatgaccaaattcgctga	14	8	10	9	2	1	4	1	3	0	1	2	5	1	5	1	1	1	1	1	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:56538313C>T	ENST00000390649.3	+	7	714	c.714C>T	c.(712-714)caC>caT	p.H238H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	238					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAAGAGTCACGTGATGACCA	0.498																																																	0													58	58	58					19																	56538313		1794	3469	5263	SO:0001819	synonymous_variant	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.714C>T	19.37:g.56538313C>T			A8MTY4|Q86W29	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.H238	ENST00000390649.3	37	c.714	CCDS12938.1	19																																																																																			NLRP5	-	superfamily_P-loop_NTPase	ENSG00000171487		0.498	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	-	0	42	0	C	NM_153447		56538313	1	tier1	-	no_errors	ENST00000390649	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.008	T	T	56538313	C	T	56538313	2	4	87	1	0	0	0	0	0	0	0	1	10519	535	19	1		1	NLRP5	19	56538313	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	293907	56538313	2590670	1849	24973											
ZNF471	57573	genome.wustl.edu	37	chr19	57035710	57035710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattgggaatctatatatGtgacacaggaattacctctg	13	12	9	7	0	2	2	0	1	2	1	2	4	2	4	1	2	1	0	1	2	6	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:57035710G>A	ENST00000308031.5	+	5	407	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ATCTATATATGTGACACAGGA	0.343																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													71	69	70					19																	57035710		2203	4300	6503	SO:0001583	missense	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.274G>A	19.37:g.57035710G>A	ENSP00000309161:p.Val92Met		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V92M	ENST00000308031.5	37	c.274	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	G	6.985	0.551887	0.13374	.	.	ENSG00000196263	ENST00000308031	T	0.05139	3.49	3.19	1.07	0.20283	.	.	.	.	.	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	0.999991	B	0.11235	0.004	B	0.04013	0.001	T	0.43163	-0.9408	9	0.51188	T	0.08	.	2.3319	0.04238	0.2804:0.0:0.4753:0.2443	.	92	Q9BX82	ZN471_HUMAN	M	92	ENSP00000309161:V92M	ENSP00000309161:V92M	V	+	1	0	ZNF471	61727522	0.423000	0.25482	0.099000	0.21106	0.862000	0.49288	1.974000	0.40559	0.357000	0.24183	0.563000	0.77884	GTG	ZNF471	-	NULL	ENSG00000196263		0.343	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	-	0	100	0	G	NM_020813		57035710	1	tier1	-	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.074	A	A	57035710	G	A	57035710	3	1	87	1	0	0	0	0	1	0	0	0	17978	1377	48	3	288	3	ZNF471	19	57035710	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	497397	57035710	2093273	1850	24974											
ZNF470	388566	genome.wustl.edu	37	chr19	57089372	57089372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagaatgcacacctcgcGcaacatcagaaaatacacac	17	4	6	14	2	1	2	1	0	0	2	2	2	1	2	2	0	4	2	2	0	5	1	rs139141662	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:57089372G>A	ENST00000330619.8	+	6	2261	c.1575G>A	c.(1573-1575)gcG>gcA	p.A525A	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.A525A	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACACCTCGCGCAACATCAGA	0.453													G|||	4	0.000798722	0.003	0	5008	,	,		21847	0		0	False		,,,				2504	0																0								G		10,4396	16.8+/-37.8	0,10,2193	69	68	68		1575	-8.7	0.2	19	dbSNP_134	68	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	ZNF470	NM_001001668.3		0,13,6490	AA,AG,GG		0.0349,0.227,0.1		525/718	57089372	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1575G>A	19.37:g.57089372G>A			A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A525	ENST00000330619.8	37	c.1575	CCDS33122.1	19																																																																																			ZNF470	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197016		0.453	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	-	0	48	0	G	NM_001001668		57089372	1	tier1	rs139141662	no_errors	ENST00000330619	ensembl	human	known	74_37	silent	21.82	43	12	SNP	0.000	A	A	57089372	G	A	57089372	2	1	87	1	0	0	0	0	0	0	0	1	17977	1074	38	1		1	ZNF470	19	57089372	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	53662	57089372	2039611	1851	24975											
PEG3	5178	genome.wustl.edu	37	chr19	57328136	57328136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgtagaatttgtctttGccatatattttctgaagctc	9	17	6	9	1	2	2	0	1	2	1	4	2	2	2	1	0	2	2	1	0	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:57328136G>A	ENST00000326441.9	-	10	2037	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	PEG3_ENST00000423103.2_Silent_p.G558G|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Silent_p.G434G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.G432G|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	558					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTTGTCTTTGCCATATATTT	0.428																																																	0													134	125	128					19																	57328136		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1674C>T	19.37:g.57328136G>A			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G558	ENST00000326441.9	37	c.1674	CCDS12948.1	19																																																																																			PEG3	-	NULL	ENSG00000198300		0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	57	0	G			57328136	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	16.39	51	10	SNP	0.039	A	A	57328136	G	A	57328136	2	1	87	1	0	0	0	0	0	0	0	1	11759	1306	46	3		3	PEG3	19	57328136	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	238764	57328136	1800847	1852	24976											
ZNF773	374928	genome.wustl.edu	37	chr19	58018683	58018683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccttgttaaacatcagaGggttcacactggagcaaagc	13	8	10	10	0	2	1	2	0	0	1	2	2	2	2	1	2	4	3	1	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58018683G>T	ENST00000282292.4	+	4	1360	c.1220G>T	c.(1219-1221)aGg>aTg	p.R407M	ZNF773_ENST00000598770.1_Missense_Mutation_p.R406M|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAACATCAGAGGGTTCACACT	0.423																																																	0													92	96	94					19																	58018683		2203	4300	6503	SO:0001583	missense	0			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"Zinc fingers, C2H2-type", "-"	30487	protein-coding gene	gene with protein product			"zinc finger protein 419B"	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1220G>T	19.37:g.58018683G>T	ENSP00000282292:p.Arg407Met		Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R407M	ENST00000282292.4	37	c.1220	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975410	0.34848	.	.	ENSG00000152439	ENST00000282292	T	0.25579	1.79	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47021	0.1423	M	0.76727	2.345	0.27880	N	0.939714	D;D	0.76494	0.999;0.999	D;D	0.79784	0.948;0.993	T	0.29027	-1.0025	9	0.72032	D	0.01	.	9.5666	0.39402	0.0:0.0:1.0:0.0	.	406;407	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	M	407	ENSP00000282292:R407M	ENSP00000282292:R407M	R	+	2	0	ZNF773	62710495	0.001000	0.12720	0.266000	0.24541	0.819000	0.46315	0.984000	0.29565	0.837000	0.34925	0.305000	0.20034	AGG	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152439		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	-	0	109	0	G	NM_198542		58018683	1	tier1	-	no_errors	ENST00000282292	ensembl	human	known	74_37	missense	8.82	93	9	SNP	0.989	T	T	58018683	G	T	58018683	3	4	87	1	0	0	0	0	1	0	0	0	18194	1000	35	3	1234	3	ZNF773	19	58018683	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	690547	58018683	1110300	1853	24977											
ZNF416	55659	genome.wustl.edu	37	chr19	58083744	58083744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaattttctggtgttcaaCgagggtatagctttgtctaa	9	16	11	5	1	3	1	1	1	2	0	3	2	3	1	0	2	2	3	0	2	5	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58083744C>T	ENST00000196489.3	-	4	1750	c.1528G>A	c.(1528-1530)Gtt>Att	p.V510I		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	510					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TGGTGTTCAACGAGGGTATAG	0.428																																																	0													94	94	94					19																	58083744		2203	4300	6503	SO:0001583	missense	0			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"Zinc fingers, C2H2-type", "-"	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.1528G>A	19.37:g.58083744C>T	ENSP00000196489:p.Val510Ile		Q9NWW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V510I	ENST00000196489.3	37	c.1528	CCDS12954.1	19	.	.	.	.	.	.	.	.	.	.	C	3.646	-0.072618	0.07228	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.07688	3.17	3.58	-0.0601	0.13790	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03136	0.0092	N	0.05124	-0.11	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.45425	-0.9262	9	0.02654	T	1	.	8.41	0.32638	0.0:0.5317:0.0:0.4683	.	510	Q9BWM5	ZN416_HUMAN	I	510;413;408	ENSP00000196489:V510I	ENSP00000196489:V510I	V	-	1	0	ZNF416	62775556	0.000000	0.05858	0.000000	0.03702	0.789000	0.44602	0.073000	0.14640	-0.174000	0.10743	-0.140000	0.14226	GTT	ZNF416	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083817		0.428	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF416	HGNC	protein_coding	OTTHUMT00000466787.1	-	0	86	0	C	NM_017879		58083744	-1	tier1	rs147696919	no_errors	ENST00000196489	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.000	T	T	58083744	C	T	58083744	3	4	87	1	0	0	0	0	1	0	0	0	17941	536	19	1	260	1	ZNF416	19	58083744	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	65061	58083744	1045239	1854	24978											
ZNF530	348327	genome.wustl.edu	37	chr19	58117515	58117515	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgagagttcccactggaCgaaagcctctcaaatacact	13	9	7	12	1	1	1	1	1	1	1	3	4	2	2	2	1	2	1	2	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58117515C>T	ENST00000332854.6	+	3	842	c.622C>T	c.(622-624)Cga>Tga	p.R208*	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCCACTGGACGAAAGCCTCT	0.468																																																	0													85	87	86					19																	58117515		2203	4300	6503	SO:0001587	stop_gained	0			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"Zinc fingers, C2H2-type", "-"	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.622C>T	19.37:g.58117515C>T	ENSP00000332861:p.Arg208*		O43340|Q9P220	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R208*	ENST00000332854.6	37	c.622	CCDS12955.1	19	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701634	0.48307	.	.	ENSG00000183647	ENST00000332854	.	.	.	0.801	-1.6	0.08426	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	3.3825	0.07260	0.315:0.4589:0.2261:0.0	.	.	.	.	X	208	.	ENSP00000332861:R208X	R	+	1	2	ZNF530	62809327	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.423000	0.07034	-1.102000	0.03023	-0.578000	0.04140	CGA	ZNF530	-	NULL	ENSG00000183647		0.468	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	-	0	30	0	C	NM_020880		58117515	1	tier1	-	no_errors	ENST00000332854	ensembl	human	known	74_37	nonsense	17.02	39	8	SNP	0.000	T	T	58117515	C	T	58117515	4	4	87	1	0	0	0	0	0	1	0	0	18019	528	19	1	632	1	ZNF530	19	58117515	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	33771	58117515	1011468	1855	24979											
ZNF586	54807	genome.wustl.edu	37	chr19	58291095	58291095	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgcattgattgtggaaaAtcatttcgccacagttcttc	11	14	8	8	1	2	1	1	1	1	0	4	3	2	2	1	1	1	2	1	1	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58291095A>G	ENST00000396154.2	+	3	1313	c.1140A>G	c.(1138-1140)aaA>aaG	p.K380K	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000391702.3_Silent_p.K337K|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGTGGAAAATCATTTCGCC	0.433																																																	0													89	91	90					19																	58291095		2197	4294	6491	SO:0001819	synonymous_variant	0			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"Zinc fingers, C2H2-type", "-"	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.1140A>G	19.37:g.58291095A>G			A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K380	ENST00000396154.2	37	c.1140	CCDS42640.1	19																																																																																			ZNF586	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083828		0.433	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	-	0	43	0	A	NM_017652		58291095	1	tier1	-	no_errors	ENST00000396154	ensembl	human	known	74_37	silent	15.38	44	8	SNP	0.881	G	G	58291095	A	G	58291095	2	3	87	1	0	0	0	0	0	0	0	1	18067	98	4	4		4	ZNF586	19	58291095	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	173580	58291095	837888	1856	24980											
ZNF497	162968	genome.wustl.edu	37	chr19	58867645	58867645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttaagagctccgacttgcGcacgaaggccttgctgcagt	8	9	12	12	3	0	1	0	0	0	1	1	3	1	1	2	1	4	5	2	1	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr19:58867645G>A	ENST00000311044.3	-	3	1545	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R453C|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000593374.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682																																																	0													12	14	14					19																	58867645		2197	4297	6494	SO:0001583	missense	0			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1357C>T	19.37:g.58867645G>A	ENSP00000311183:p.Arg453Cys		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R453C	ENST00000311044.3	37	c.1357	CCDS12977.1	19	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778249	0.49786	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.30182	1.54;1.54	1.14	-2.29	0.06805	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35740	0.0942	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.21861	-1.0233	9	0.54805	T	0.06	.	1.8909	0.03247	0.1423:0.1924:0.4699:0.1954	.	453	Q6ZNH5	ZN497_HUMAN	C	453	ENSP00000311183:R453C;ENSP00000402815:R453C	ENSP00000311183:R453C	R	-	1	0	ZNF497	63559457	0.000000	0.05858	0.005000	0.12908	0.374000	0.29953	-1.391000	0.02525	-1.225000	0.02578	0.195000	0.17529	CGC	ZNF497	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174586		0.682	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF497	HGNC	protein_coding	OTTHUMT00000466942.2	-	0	18	0	G	NM_198458		58867645	-1	tier1	-	no_errors	ENST00000311044	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.047	A	A	58867645	G	A	58867645	3	1	87	1	0	0	0	0	1	0	0	0	17994	1087	38	1	143	1	ZNF497	19	58867645	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	576550	58867645	261338	1857	24981											
PSMF1	9491	genome.wustl.edu	37	chr20	1145699	1145699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaccatctccccccgcCgggctacgatgacatgtacc	8	6	8	19	3	1	2	0	1	1	1	2	3	1	2	7	1	2	2	7	1	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:1145699C>T	ENST00000335877.6	+	7	967	c.791C>T	c.(790-792)cCg>cTg	p.P264L	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000333082.3_Missense_Mutation_p.P264L|PSMF1_ENST00000246015.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	264	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CTCCCCCCGCCGGGCTACGAT	0.572																																																	0													163	142	149					20																	1145699		2203	4300	6503	SO:0001583	missense	0			D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"Proteasome (prosome, macropain) subunits"	9571	protein-coding gene	gene with protein product	"proteasome inhibitor hP131 subunit"					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.791C>T	20.37:g.1145699C>T	ENSP00000338039:p.Pro264Leu		A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	pfam_FP_dom,pfam_PI31_Prot_Reg	p.P264L	ENST00000335877.6	37	c.791	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688057	0.68271	.	.	ENSG00000125818	ENST00000333082;ENST00000454500;ENST00000335877	T;T	0.62639	0.01;0.01	5.41	5.41	0.78517	.	0.122334	0.56097	D	0.000021	T	0.79094	0.4388	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80734	-0.1250	10	0.87932	D	0	-13.9781	16.2153	0.82211	0.0:1.0:0.0:0.0	.	176;264	B4DUJ0;Q92530	.;PSMF1_HUMAN	L	264;158;264	ENSP00000327704:P264L;ENSP00000338039:P264L	ENSP00000327704:P264L	P	+	2	0	PSMF1	1093699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.823000	0.69272	2.815000	0.96918	0.561000	0.74099	CCG	PSMF1	-	NULL	ENSG00000125818		0.572	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	HGNC	protein_coding	OTTHUMT00000077504.2	-	0	65	0	C	NM_178578		1145699	1	tier1	-	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	1145699	C	T	1145699	3	4	87	1	0	0	0	0	1	0	0	0	12752	652	23	1	817	1	PSMF1	20	1145699	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09		1145699	61879821	1858	24982											
SNPH	9751	genome.wustl.edu	37	chr20	1277890	1277890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagtgacagcagtcccaCgccaaggtaattggcccctc	9	6	12	14	1	0	1	0	1	0	0	2	1	1	1	4	3	1	3	4	3	2	2	rs146181445	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:1277890C>A	ENST00000381873.3	+	4	388	c.152C>A	c.(151-153)aCg>aAg	p.T51K	SNPH_ENST00000381867.1_Missense_Mutation_p.T95K	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	51					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGCAGTCCCACGCCAAGGTAA	0.627																																																	0													48	35	40					20																	1277890		2203	4300	6503	SO:0001583	missense	0				CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.152C>A	20.37:g.1277890C>A	ENSP00000371297:p.Thr51Lys		Q8IYI3	Missense_Mutation	SNP	NULL	p.T95K	ENST00000381873.3	37	c.284	CCDS13012.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740967	0.89573	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	5.03	5.03	0.67393	.	0.214952	0.37437	N	0.002097	T	0.68311	0.2987	L	0.34521	1.04	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70857	-0.4758	9	0.62326	D	0.03	-15.5529	18.5593	0.91095	0.0:1.0:0.0:0.0	.	95;51	O15079-2;O15079	.;SNPH_HUMAN	K	51;95	.	ENSP00000371291:T95K	T	+	2	0	SNPH	1225890	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	5.077000	0.64419	2.608000	0.88229	0.655000	0.94253	ACG	SNPH	-	NULL	ENSG00000101298		0.627	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNPH	HGNC	protein_coding	OTTHUMT00000145240.2		0	37	0	C	NM_014723		1277890	1			no_errors	ENST00000381867	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	1277890	C	A	1277890	3	1	87	1	0	0	0	0	1	0	0	0	14895	536	19	2	158	2	SNPH	20	1277890	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	132191	1277890	61747630	1859	24983											
TGM3	7053	genome.wustl.edu	37	chr20	2312875	2312875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgacagtgaacatgacaGcctggaccatcatctacaac	14	7	8	12	0	2	3	1	3	1	0	2	4	2	4	2	1	4	0	2	1	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:2312875G>A	ENST00000381458.5	+	10	1624	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	521					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GAACATGACAGCCTGGACCAT	0.532																																																	0													121	95	104					20																	2312875		2203	4300	6503	SO:0001583	missense	0			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"Transglutaminases"	11779	protein-coding gene	gene with protein product	"E polypeptide, protein-glutamine-gamma-glutamyltransferase"	600238	"transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1561G>A	20.37:g.2312875G>A	ENSP00000370867:p.Ala521Thr		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A521T	ENST00000381458.5	37	c.1561	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437423	0.83885	.	.	ENSG00000125780	ENST00000381458	T	0.70045	-0.45	5.3	5.3	0.74995	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.110120	0.64402	D	0.000007	T	0.79299	0.4422	M	0.69823	2.125	0.43846	D	0.996437	D	0.89917	1.0	D	0.91635	0.999	T	0.80405	-0.1396	10	0.72032	D	0.01	5.1073	11.3794	0.49748	0.0:0.0:0.8196:0.1804	.	521	Q08188	TGM3_HUMAN	T	521	ENSP00000370867:A521T	ENSP00000370867:A521T	A	+	1	0	TGM3	2260875	0.989000	0.36119	0.997000	0.53966	0.984000	0.73092	4.058000	0.57463	2.757000	0.94681	0.655000	0.94253	GCC	TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C	ENSG00000125780		0.532	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	-	0	34	0	G	NM_003245		2312875	1	tier1	-	no_errors	ENST00000381458	ensembl	human	known	74_37	missense	19.44	29	7	SNP	0.993	A	A	2312875	G	A	2312875	3	1	87	1	0	0	0	0	1	0	0	0	15878	971	34	3	1599	3	TGM3	20	2312875	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1034985	2312875	60712645	1860	24984											
TMC2	117532	genome.wustl.edu	37	chr20	2621828	2621828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccatggacaagaaggCgcagggccctgggacctcca	10	3	14	14	1	0	1	0	0	0	1	1	3	1	3	5	5	0	1	5	5	2	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:2621828C>T	ENST00000358864.1	+	20	2567	c.2552C>T	c.(2551-2553)gCg>gTg	p.A851V		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	851					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACAAGAAGGCGCAGGGCCCT	0.567																																																	0													84	89	87					20																	2621828		2203	4300	6503	SO:0001583	missense	0			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"transmembrane, cochlear expressed, 2"	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2552C>T	20.37:g.2621828C>T	ENSP00000351732:p.Ala851Val		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	pfam_TMC	p.A851V	ENST00000358864.1	37	c.2552	CCDS13029.2	20	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034174	0.35893	.	.	ENSG00000149488	ENST00000358864	T	0.64260	-0.09	4.89	1.91	0.25777	.	0.302280	0.30611	N	0.009260	T	0.48943	0.1528	L	0.51422	1.61	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.31138	-0.9954	10	0.29301	T	0.29	-1.3209	6.1865	0.20500	0.0:0.6941:0.0:0.3059	.	851	Q8TDI7	TMC2_HUMAN	V	851	ENSP00000351732:A851V	ENSP00000351732:A851V	A	+	2	0	TMC2	2569828	0.032000	0.19561	0.094000	0.20943	0.082000	0.17680	-0.033000	0.12246	0.736000	0.32559	0.591000	0.81541	GCG	TMC2	-	NULL	ENSG00000149488		0.567	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	-	0	67	0	C			2621828	1	tier1	-	no_errors	ENST00000358864	ensembl	human	known	74_37	missense	11.76	60	8	SNP	0.030	T	T	2621828	C	T	2621828	3	4	87	1	0	0	0	0	1	0	0	0	16032	768	27	1	2630	1	TMC2	20	2621828	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	308953	2621828	60403692	1861	24985											
NOP56	10528	genome.wustl.edu	37	chr20	2637737	2637737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaccaggcagaggaagCggctgctgagattactagga	11	8	14	8	1	0	3	0	2	0	2	0	6	0	5	1	4	3	3	1	4	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:2637737C>T	ENST00000329276.5	+	11	1808	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|SNORA51_ENST00000606420.1_RNA|NOP56_ENST00000492135.1_3'UTR|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	431					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GCAGAGGAAGCGGCTGCTGAG	0.478																																																	0													64	66	65					20																	2637737		2203	4300	6503	SO:0001583	missense	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1292C>T	20.37:g.2637737C>T	ENSP00000370589:p.Ala431Val		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.A431V	ENST00000329276.5	37	c.1292	CCDS13030.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.35|14.35	2.509585|2.509585	0.44660|0.44660	.|.	.|.	ENSG00000101361|ENSG00000101361	ENST00000329276;ENST00000381169|ENST00000415272	T|.	0.40476|.	1.03|.	5.71|5.71	3.4|3.4	0.38934|0.38934	.|.	0.166560|.	0.52532|.	N|.	0.000061|.	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.03050|0.03050	-0.425|-0.425	0.43168|0.43168	D|D	0.994969|0.994969	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.06405|.	0.0;0.002|.	T|T	0.05903|0.05903	-1.0857|-1.0857	10|5	0.25106|.	T|.	0.35|.	-14.3029|-14.3029	6.5558|6.5558	0.22460|0.22460	0.0:0.7605:0.0:0.2395|0.0:0.7605:0.0:0.2395	.|.	178;431|.	E9PDI8;O00567|.	.;NOP56_HUMAN|.	V|W	431;178|172	ENSP00000370589:A431V|.	ENSP00000370589:A431V|.	A|R	+|+	2|1	0|2	NOP56|NOP56	2585737|2585737	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.993000|0.993000	0.82548|0.82548	3.623000|3.623000	0.54224|0.54224	1.549000|1.549000	0.49425|0.49425	0.650000|0.650000	0.86243|0.86243	GCG|CGG	NOP56	-	NULL	ENSG00000101361		0.478	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	-	0	40	0	C	NM_006392		2637737	1	tier1	-	no_errors	ENST00000329276	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.906	T	T	2637737	C	T	2637737	3	4	87	1	0	0	0	0	1	0	0	0	10578	768	27	1	1334	1	NOP56	20	2637737	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	15909	2637737	60387783	1862	24986											
PTPRA	5786	genome.wustl.edu	37	chr20	3001962	3001962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctttccagtgcaagtGcgcccagtactggccagacc	7	12	9	13	1	1	1	0	0	1	1	2	1	2	1	4	1	3	2	4	1	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3001962G>A	ENST00000216877.6	+	13	1422	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y	PTPRA_ENST00000318266.5_Missense_Mutation_p.C341Y|PTPRA_ENST00000358719.4_Missense_Mutation_p.C206Y|PTPRA_ENST00000380393.3_Missense_Mutation_p.C350Y|PTPRA_ENST00000425918.2_Missense_Mutation_p.C361Y|PTPRA_ENST00000399903.2_Missense_Mutation_p.C350Y|PTPRA_ENST00000356147.3_Missense_Mutation_p.C341Y	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	350	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGTGCAAGTGCGCCCAGTAC	0.532																																																	0													187	157	168					20																	3001962		2203	4300	6503	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1022G>A	20.37:g.3001962G>A	ENSP00000216877:p.Cys341Tyr		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.C361Y	ENST00000216877.6	37	c.1082	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359192	0.82353	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36	4.68	4.68	0.58851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.079938	0.64402	U	0.000002	T	0.58250	0.2109	H	0.96604	3.85	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.945;0.994	T	0.74717	-0.3571	10	0.87932	D	0	.	18.1483	0.89665	0.0:0.0:1.0:0.0	.	361;350;341	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Y	350;341;350;206;361;341;341	ENSP00000369756:C350Y;ENSP00000216877:C341Y;ENSP00000382787:C350Y;ENSP00000351559:C206Y;ENSP00000393553:C361Y;ENSP00000314568:C341Y;ENSP00000348468:C341Y	ENSP00000216877:C341Y	C	+	2	0	PTPRA	2949962	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.657000	0.98554	2.584000	0.87258	0.563000	0.77884	TGC	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.532	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3	-	0	82	0	G			3001962	1	tier1	-	no_errors	ENST00000425918	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	A	A	3001962	G	A	3001962	3	1	87	1	0	0	0	0	1	0	0	0	12840	1319	46	3	1091	3	PTPRA	20	3001962	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	364225	3001962	60023558	1863	24987											
ATRN	8455	genome.wustl.edu	37	chr20	3526487	3526487	+	Frame_Shift_Del	DEL	T	T	-																															tcaggttatgccttgctgcaTttttttagtgatgctgctta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3526487delT	ENST00000262919.5	+	4	755	c.687delT	c.(685-687)catfs	p.H229fs	ATRN_ENST00000446916.2_Frame_Shift_Del_p.H229fs	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	229	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGCTGCATTTTTTTAGTG	0.378																																																	0													202	181	188					20																	3526487		2203	4300	6503	SO:0001589	frameshift_variant	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.687delT	20.37:g.3526487delT	ENSP00000262919:p.His229fs		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.F231fs	ENST00000262919.5	37	c.687	CCDS13053.1	20																																																																																			ATRN	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000088812		0.378	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2		0	72	0	T	NM_139321		3526487	1	tier1		no_errors	ENST00000262919	ensembl	human	known	74_37	frame_shift_del	10.81	66	8	DEL	1.000	-	-	3526487	T	-	3526487	7	5	87	1	0	1	0	1	0	0	0	0	1207	1490	52	0	701	0	ATRN	20	3526487	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	524525	3526487	59499033	1864	24988											
ATRN	8455	genome.wustl.edu	37	chr20	3557636	3557636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggaatcaggagtgcattgCcctgcccggtaggccttgca	7	8	13	13	2	1	0	1	0	0	0	1	2	1	2	4	4	4	3	4	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3557636C>T	ENST00000262919.5	+	14	2413	c.2345C>T	c.(2344-2346)gCc>gTc	p.A782V	ATRN_ENST00000446916.2_Missense_Mutation_p.A782V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	782	PSI 2.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAGTGCATTGCCCTGCCCGGT	0.562																																																	0													91	86	88					20																	3557636		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2345C>T	20.37:g.3557636C>T	ENSP00000262919:p.Ala782Val		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.A782V	ENST00000262919.5	37	c.2345	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571124	0.86542	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.06687	3.27;3.34	5.81	5.81	0.92471	.	0.251888	0.40728	N	0.001022	T	0.11537	0.0281	L	0.39898	1.24	0.43377	D	0.995477	P;P	0.41748	0.761;0.617	B;B	0.43867	0.434;0.173	T	0.01951	-1.1241	10	0.44086	T	0.13	-14.7565	15.197	0.73100	0.0:0.8595:0.1405:0.0	.	782;782	O75882;O75882-2	ATRN_HUMAN;.	V	782;782;708	ENSP00000262919:A782V;ENSP00000416587:A782V	ENSP00000262919:A782V	A	+	2	0	ATRN	3505636	0.998000	0.40836	1.000000	0.80357	0.943000	0.58893	4.788000	0.62439	2.758000	0.94735	0.561000	0.74099	GCC	ATRN	-	smart_Plexin-like_fold	ENSG00000088812		0.562	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	-	0	48	0	C	NM_139321		3557636	1	tier1	-	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	T	T	3557636	C	T	3557636	3	4	87	1	0	0	0	0	1	0	0	0	1207	739	26	3	2399	3	ATRN	20	3557636	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	31149	3557636	59467884	1865	24989											
HSPA12B	116835	genome.wustl.edu	37	chr20	3731495	3731496	+	Frame_Shift_Ins	INS	-	-	T																															caggggatgctccgaatgtcINSttgtgaagccatgaacgagc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:3731495_3731496insT	ENST00000254963.2	+	12	1491_1492	c.1346_1347insT	c.(1345-1350)tcttgtfs	p.C450fs	HSPA12B_ENST00000542646.1_Frame_Shift_Ins_p.C284fs	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	450							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CTCCGAATGTCTTGTGAAGCCA	0.579																																																	0																																										SO:0001589	frameshift_variant	0			AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"Heat shock proteins / HSP70"	16193	protein-coding gene	gene with protein product		610702	"chromosome 20 open reading frame 60"	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1348dupT	20.37:g.3731497_3731497dupT	ENSP00000254963:p.Cys450fs		D3DVX7|Q2TAK3|Q9BR52	Frame_Shift_Ins	INS	NULL	p.C450fs	ENST00000254963.2	37	c.1346_1347	CCDS13061.1	20																																																																																			HSPA12B	-	NULL	ENSG00000132622		0.579	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12B	HGNC	protein_coding	OTTHUMT00000077756.2		0	17	0	-	NM_052970		3731496	1	tier1		no_errors	ENST00000254963	ensembl	human	known	74_37	frame_shift_ins	41.67	14	10	INS	0.999:0.346	T	T	3731496	-	T	3731495	7	5	87	1	0	1	1	0	0	0	0	0	7432	913	32	0	1388	0	HSPA12B	20	3731495	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	173859	3731495	59294025	1866	24990											
PCSK2	5126	genome.wustl.edu	37	chr20	17434447	17434447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacggcggcagctatgacGactgcaactgcgacggctac	9	5	15	12	5	0	1	0	1	0	0	0	4	0	2	0	4	5	4	0	4	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:17434447G>T	ENST00000262545.2	+	9	1261	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	PCSK2_ENST00000377899.1_Missense_Mutation_p.D297Y|PCSK2_ENST00000536609.1_Missense_Mutation_p.D281Y	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	316	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""Insulin(DB00071)|Insulin Regular(DB00030)"	CAGCTATGACGACTGCAACTG	0.652																																																	0													109	82	91					20																	17434447		2203	4300	6503	SO:0001583	missense	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"neuroendocrine convertase 2", "KEX2-like endoprotease 2"	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.946G>T	20.37:g.17434447G>T	ENSP00000262545:p.Asp316Tyr		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D316Y	ENST00000262545.2	37	c.946	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158646	0.78226	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88201	-2.35;-2.35;-2.35	5.69	4.75	0.60458	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.93429	0.7904	M	0.75447	2.3	0.80722	D	1	D;B	0.89917	1.0;0.378	D;P	0.97110	1.0;0.498	D	0.92711	0.6183	10	0.38643	T	0.18	-45.2998	13.3285	0.60473	0.0763:0.0:0.9237:0.0	.	281;316	B4DFQ3;P16519	.;NEC2_HUMAN	Y	297;316;281	ENSP00000367131:D297Y;ENSP00000262545:D316Y;ENSP00000437458:D281Y	ENSP00000262545:D316Y	D	+	1	0	PCSK2	17382447	1.000000	0.71417	0.923000	0.36655	0.611000	0.37282	7.998000	0.88491	1.420000	0.47138	0.655000	0.94253	GAC	PCSK2	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000125851		0.652	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	-	0	112	0	G	NM_002594		17434447	1	tier1	-	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	9.88	73	8	SNP	1.000	T	T	17434447	G	T	17434447	3	4	87	1	0	0	0	0	1	0	0	0	11640	1058	37	2	980	2	PCSK2	20	17434447	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	13702952	17434447	45591073	1867	24991											
RRBP1	6238	genome.wustl.edu	37	chr20	17641107	17641107	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaacaaccatgaatcCtccaaagaccacaaccccca	17	3	5	16	0	0	3	0	1	0	2	2	3	2	3	6	1	3	1	6	1	5	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:17641107C>A	ENST00000377813.1	-	3	349	c.46G>T	c.(46-48)Gga>Tga	p.G16*	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.G16*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.G16*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.G16*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	16					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACCATGAATCCTCCAAAGACC	0.453																																																	0													88	83	85					20																	17641107		2203	4300	6503	SO:0001587	stop_gained	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.46G>T	20.37:g.17641107C>A	ENSP00000367044:p.Gly16*		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.G16*	ENST00000377813.1	37	c.46		20	.	.	.	.	.	.	.	.	.	.	C	36	5.601396	0.96614	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	.	.	.	4.54	4.54	0.55810	.	0.000000	0.31577	N	0.007401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.671	16.6221	0.84933	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000246043:G16X	G	-	1	0	RRBP1	17589107	1.000000	0.71417	0.996000	0.52242	0.823000	0.46562	7.736000	0.84948	2.247000	0.74100	0.655000	0.94253	GGA	RRBP1	-	NULL	ENSG00000125844		0.453	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1		0	60	0	C	NM_001042576		17641107	-1			no_errors	ENST00000246043	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	A	A	17641107	C	A	17641107	4	1	87	1	0	0	0	0	0	1	0	0	13723	690	24	3	2983	3	RRBP1	20	17641107	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	206660	17641107	45384413	1868	24992											
BANF2	140836	genome.wustl.edu	37	chr20	17705764	17705764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcatcagccatgagctcGcgatcaatttggtcaccaaa	12	9	9	11	2	3	1	3	1	0	0	4	2	3	1	2	2	2	2	2	2	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:17705764G>A	ENST00000246090.5	+	3	356	c.94G>A	c.(94-96)Gcg>Acg	p.A32T	BANF2_ENST00000377805.3_Missense_Mutation_p.A32T|BANF2_ENST00000545418.2_Missense_Mutation_p.A39T	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	32						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CCATGAGCTCGCGATCAATTT	0.493																																																	0													155	141	146					20																	17705764		2203	4300	6503	SO:0001583	missense	0			BC054871	CCDS13129.1, CCDS54449.1	20p12.1	2007-12-17	2007-12-17	2007-12-17	ENSG00000125888	ENSG00000125888			16172	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 179"	C20orf179			Standard	NM_178477		Approved	dJ803K15.1, BAF-L, BAFL, BAF2	uc010zrs.1	Q9H503	OTTHUMG00000031949	ENST00000246090.5:c.94G>A	20.37:g.17705764G>A	ENSP00000246090:p.Ala32Thr		D3DW25|F5H3F6|Q7Z4M6	Missense_Mutation	SNP	pfam_BAF_prot,superfamily_BAF_prot	p.A39T	ENST00000246090.5	37	c.115	CCDS13129.1	20	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782758	0.70222	.	.	ENSG00000125888	ENST00000545418;ENST00000427254;ENST00000377805;ENST00000246090	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.05	5.05	0.67936	.	0.098719	0.41396	D	0.000881	T	0.70736	0.3258	.	.	.	0.33551	D	0.59612	D;D	0.89917	1.0;0.999	D;D	0.68353	0.928;0.957	T	0.80056	-0.1542	9	0.87932	D	0	-12.7038	14.6201	0.68579	0.0:0.0:1.0:0.0	.	39;32	F5H3F6;Q9H503	.;BAFL_HUMAN	T	39;32;32;32	ENSP00000439128:A39T;ENSP00000398738:A32T;ENSP00000367036:A32T;ENSP00000246090:A32T	ENSP00000246090:A32T	A	+	1	0	BANF2	17653764	1.000000	0.71417	0.884000	0.34674	0.427000	0.31564	4.399000	0.59703	2.704000	0.92352	0.655000	0.94253	GCG	BANF2	-	pfam_BAF_prot,superfamily_BAF_prot	ENSG00000125888		0.493	BANF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BANF2	HGNC	protein_coding	OTTHUMT00000102261.2	-	0	37	0	G	NM_178477		17705764	1	tier1	-	no_errors	ENST00000545418	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.903	A	A	17705764	G	A	17705764	3	1	87	1	0	0	0	0	1	0	0	0	1309	1087	38	1	121	1	BANF2	20	17705764	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	64657	17705764	45319756	1869	24993											
RALGAPA2	57186	genome.wustl.edu	37	chr20	20565580	20565580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccaattcagcagggctgCtgcttcttcgaactaagatc	11	11	8	11	1	2	1	1	0	1	1	5	2	3	1	1	1	4	4	1	1	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:20565580C>T	ENST00000202677.7	-	19	2466	c.2459G>A	c.(2458-2460)aGc>aAc	p.S820N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	820					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AGCAGGGCTGCTGCTTCTTCG	0.373																																																	0													131	125	127					20																	20565580		1827	4078	5905	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2459G>A	20.37:g.20565580C>T	ENSP00000202677:p.Ser820Asn		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.S820N	ENST00000202677.7	37	c.2459	CCDS46584.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.530894|2.530894	0.45073|0.45073	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|T	.|0.70516	.|-0.49	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.241501	.|0.46758	.|D	.|0.000272	T|T	0.61211|0.61211	0.2329|0.2329	L|L	0.38838|0.38838	1.175|1.175	0.32223|0.32223	N|N	0.574938|0.574938	.|B;B	.|0.19200	.|0.016;0.034	.|B;B	.|0.15870	.|0.014;0.012	T|T	0.65919|0.65919	-0.6051|-0.6051	5|10	.|0.54805	.|T	.|0.06	.|.	12.6709|12.6709	0.56866|0.56866	0.0:0.9198:0.0:0.0802|0.0:0.9198:0.0:0.0802	.|.	.|658;820	.|A8MSM5;Q2PPJ7	.|.;RGPA2_HUMAN	T|N	637|820	.|ENSP00000202677:S820N	.|ENSP00000202677:S820N	A|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20513580|20513580	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.318000|3.318000	0.51975|0.51975	2.747000|2.747000	0.94245|0.94245	0.591000|0.591000	0.81541|0.81541	GCA|AGC	RALGAPA2	-	NULL	ENSG00000188559		0.373	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	-	0	32	0	C	NM_020343		20565580	-1	tier1	-	no_errors	ENST00000202677	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	20565580	C	T	20565580	3	4	87	1	0	0	0	0	1	0	0	0	13059	797	28	3	3246	3	RALGAPA2	20	20565580	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2859816	20565580	42459940	1870	24994											
PAX1	5075	genome.wustl.edu	37	chr20	21687474	21687474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaacaagatcggcagcctgGcgcagcccggaccgtacgag	10	3	14	14	5	0	1	0	0	0	1	1	3	0	2	3	3	4	4	3	3	3	1	rs147166433	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:21687474G>A	ENST00000398485.2	+	2	739	c.685G>A	c.(685-687)Gcg>Acg	p.A229T	PAX1_ENST00000444366.2_Missense_Mutation_p.A205T|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	229					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCAGCCTGGCGCAGCCCGG	0.647																																																	0													40	46	44					20																	21687474		2203	4298	6501	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.685G>A	20.37:g.21687474G>A	ENSP00000381499:p.Ala229Thr		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.A229T	ENST00000398485.2	37	c.685	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776998	0.49786	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98313	-4.35;-4.86	5.19	4.18	0.49190	.	0.109657	0.64402	D	0.000005	D	0.91703	0.7377	N	0.04880	-0.145	0.35971	D	0.835339	B;B;P	0.35077	0.036;0.002;0.483	B;B;B	0.30943	0.01;0.002;0.122	D	0.91449	0.5180	10	0.30854	T	0.27	.	6.81	0.23799	0.0:0.199:0.4782:0.3229	.	205;135;229	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	T	229;205	ENSP00000381499:A229T;ENSP00000410355:A205T	ENSP00000381499:A229T	A	+	1	0	PAX1	21635474	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.536000	0.60636	2.423000	0.82170	0.462000	0.41574	GCG	PAX1	-	NULL	ENSG00000125813		0.647	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	93	0	G			21687474	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	15.66	70	13	SNP	1.000	A	A	21687474	G	A	21687474	3	1	87	1	0	0	0	0	1	0	0	0	11517	1203	42	3	691	3	PAX1	20	21687474	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1121894	21687474	41338046	1871	24995											
CD93	22918	genome.wustl.edu	37	chr20	23064944	23064944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagctcgctctggaacccagGagtaactgtctgccgcattc	8	9	10	14	2	2	0	0	0	2	0	4	2	2	2	2	2	4	4	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:23064944G>A	ENST00000246006.4	-	1	2033	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	629					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGAACCCAGGAGTAACTGTC	0.627																																																	0													129	130	130					20																	23064944		2203	4300	6503	SO:0001583	missense	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"CD molecules"	15855	protein-coding gene	gene with protein product		120577	"matrix-remodelling associated 4", "complement component 1, q subcomponent, receptor 1", "CD93 antigen"	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1886C>T	20.37:g.23064944G>A	ENSP00000246006:p.Ser629Phe		O00274	Missense_Mutation	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.S629F	ENST00000246006.4	37	c.1886	CCDS13149.1	20	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028025	0.54790	.	.	ENSG00000125810	ENST00000246006	D	0.82526	-1.62	6.03	6.03	0.97812	.	0.213650	0.33419	N	0.004922	D	0.85474	0.5705	L	0.53249	1.67	0.35696	D	0.815223	D	0.54397	0.966	P	0.52710	0.707	D	0.89301	0.3626	10	0.72032	D	0.01	-35.8053	14.3758	0.66874	0.0:0.2426:0.7574:0.0	.	629	Q9NPY3	C1QR1_HUMAN	F	629	ENSP00000246006:S629F	ENSP00000246006:S629F	S	-	2	0	CD93	23012944	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	2.845000	0.48254	2.880000	0.98712	0.650000	0.86243	TCC	CD93	-	NULL	ENSG00000125810		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0	41	0	G	NM_012072		23064944	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	missense	32.00	34	16	SNP	1.000	A	A	23064944	G	A	23064944	3	1	87	1	0	0	0	0	1	0	0	0	3054	1174	41	3	80	3	CD93	20	23064944	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1377470	23064944	39960576	1872	24996											
ACSS1	84532	genome.wustl.edu	37	chr20	25038639	25038639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccgaggccgccctgcgcgGcgcgctcaccccgcacggcg	3	3	14	21	9	1	0	1	0	0	0	2	1	2	0	5	3	1	2	5	3	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:25038639G>A	ENST00000323482.4	-	1	179	c.100C>T	c.(100-102)Ccg>Tcg	p.P34S	ACSS1_ENST00000376726.3_Missense_Mutation_p.P34S|ACSS1_ENST00000432802.2_Missense_Mutation_p.P34S	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	34					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCCTGCGCGGCGCGCTCACC	0.786																																																	0													2	2	2					20																	25038639		1567	3178	4745	SO:0001583	missense	0				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"Acyl-CoA synthetase family"	16091	protein-coding gene	gene with protein product		614355	"acetyl-Coenzyme A synthetase 2 (AMP forming)-like"	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.100C>T	20.37:g.25038639G>A	ENSP00000316924:p.Pro34Ser		B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	p.P34S	ENST00000323482.4	37	c.100	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265730	0.40095	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000432802;ENST00000376726	T;T;T	0.21031	2.03;2.03;2.03	3.09	-0.809	0.10864	.	9.114850	0.00166	N	0.000010	T	0.09992	0.0245	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.17684	-1.0361	10	0.19590	T	0.45	-1.8308	3.0261	0.06091	0.156:0.0:0.3833:0.4607	.	34;34;34	E9PC79;Q9NUB1-2;Q9NUB1	.;.;ACS2L_HUMAN	S	34	ENSP00000316924:P34S;ENSP00000388793:P34S;ENSP00000365916:P34S	ENSP00000316924:P34S	P	-	1	0	ACSS1	24986639	0.001000	0.12720	0.000000	0.03702	0.359000	0.29487	0.718000	0.25866	0.102000	0.17638	0.313000	0.20887	CCG	ACSS1	-	NULL	ENSG00000154930		0.786	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	-	0	23	0	G	NM_032501		25038639	-1	tier1	-	no_errors	ENST00000323482	ensembl	human	known	74_37	missense	37.50	5	3	SNP	0.000	A	A	25038639	G	A	25038639	3	1	87	1	0	0	0	0	1	0	0	0	188	1203	42	3	2025	3	ACSS1	20	25038639	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1973695	25038639	37986881	1873	24997											
REM1	28954	genome.wustl.edu	37	chr20	30072036	30072036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgcagcacaatgtggccGagctcttcgagggcgtggtg	6	8	16	11	4	1	0	0	0	1	0	2	2	1	0	1	3	3	4	1	3	1	1	rs61759895		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:30072036G>A	ENST00000201979.2	+	5	993	c.700G>A	c.(700-702)Gag>Aag	p.E234K	LINC00028_ENST00000435497.1_lincRNA	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	234					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAATGTGGCCGAGCTCTTCGA	0.701																																																	0													15	16	16					20																	30072036		2194	4283	6477	SO:0001583	missense	0			AF152863	CCDS13181.1	20q11.21	2014-05-09	2004-04-14	2004-04-16	ENSG00000088320	ENSG00000088320			15922	protein-coding gene	gene with protein product	"GTPase GES"	610388	"RAS (RAD and GEM)-like GTP-binding"	REM		10831614, 14623965	Standard	NM_014012		Approved	GES	uc002wwa.3	O75628	OTTHUMG00000032168	ENST00000201979.2:c.700G>A	20.37:g.30072036G>A	ENSP00000201979:p.Glu234Lys		E1P5L1|Q5TZR7|Q5TZR8|Q9NP57	Missense_Mutation	SNP	pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E234K	ENST00000201979.2	37	c.700	CCDS13181.1	20	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010230	0.93346	.	.	ENSG00000088320	ENST00000201979	D	0.82081	-1.57	5.02	5.02	0.67125	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87341	0.6153	M	0.65975	2.015	0.80722	D	1	P	0.52842	0.956	P	0.52856	0.711	D	0.88842	0.3313	10	0.72032	D	0.01	.	17.5014	0.87733	0.0:0.0:1.0:0.0	.	234	O75628	REM1_HUMAN	K	234	ENSP00000201979:E234K	ENSP00000201979:E234K	E	+	1	0	REM1	29535697	1.000000	0.71417	0.955000	0.39395	0.561000	0.35649	9.112000	0.94314	2.585000	0.87301	0.561000	0.74099	GAG	REM1	-	pirsf_Small_GTPase_GEM/REM/Rad,pfam_Small_GTPase,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000088320		0.701	REM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM1	HGNC	protein_coding	OTTHUMT00000078508.2	-	0	11	0	G	NM_014012		30072036	1	tier1	-	no_errors	ENST00000201979	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	A	A	30072036	G	A	30072036	3	1	87	1	0	0	0	0	1	0	0	0	13267	1059	37	1	714	1	REM1	20	30072036	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5033397	30072036	32953484	1874	24998											
TM9SF4	9777	genome.wustl.edu	37	chr20	30730863	30730863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccaggagcacacgtacCgtgtcgtccgcttcgaggtg	8	7	14	12	5	0	0	0	0	0	0	3	3	1	2	3	3	2	3	3	3	1	2	rs199761347		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:30730863C>T	ENST00000398022.2	+	6	842	c.607C>T	c.(607-609)Cgt>Tgt	p.R203C	TM9SF4_ENST00000217315.5_Missense_Mutation_p.R186C	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	203						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCACACGTACCGTGTCGTCCG	0.577																																																	0													188	128	148					20																	30730863		2203	4300	6503	SO:0001583	missense	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.607C>T	20.37:g.30730863C>T	ENSP00000381104:p.Arg203Cys		B0QYT7|Q9NUA3	Missense_Mutation	SNP	pfam_EMP70	p.R203C	ENST00000398022.2	37	c.607	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978679	0.74360	.	.	ENSG00000101337	ENST00000398022;ENST00000421148;ENST00000217315	T;T	0.54479	0.57;0.57	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.80237	0.4586	H	0.96269	3.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.977;0.999	D	0.85519	0.1202	10	0.87932	D	0	-8.9696	12.9829	0.58575	0.172:0.828:0.0:0.0	.	129;110;203	F5H3B5;B4DH88;Q92544	.;.;TM9S4_HUMAN	C	203;129;186	ENSP00000381104:R203C;ENSP00000217315:R186C	ENSP00000217315:R186C	R	+	1	0	TM9SF4	30194524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.183000	0.50918	2.684000	0.91462	0.555000	0.69702	CGT	TM9SF4	-	pfam_EMP70	ENSG00000101337		0.577	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	HGNC	protein_coding	OTTHUMT00000323568.1	-	0	52	0	C	NM_014742		30730863	1	tier1	rs199761347	no_errors	ENST00000398022	ensembl	human	known	74_37	missense	18.00	40	9	SNP	1.000	T	T	30730863	C	T	30730863	3	4	87	1	0	0	0	0	1	0	0	0	16027	652	23	1	629	1	TM9SF4	20	30730863	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	658827	30730863	32294657	1875	24999											
PLAGL2	5326	genome.wustl.edu	37	chr20	30784466	30784466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccaggtgggttacacGggggcaggttgagtggaaga	8	7	19	7	1	0	2	0	1	0	1	0	3	0	3	2	7	1	3	2	7	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:30784466G>A	ENST00000246229.4	-	3	1544	c.1280C>T	c.(1279-1281)cCg>cTg	p.P427L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	427					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGGGTTACACGGGGGCAGGTT	0.612																																					Colon(163;15 1893 11280 16306 47518)												0													25	27	26					20																	30784466		2203	4300	6503	SO:0001583	missense	0				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1280C>T	20.37:g.30784466G>A	ENSP00000246229:p.Pro427Leu		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P427L	ENST00000246229.4	37	c.1280	CCDS13197.1	20	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675205	0.47781	.	.	ENSG00000126003	ENST00000246229	T	0.15487	2.42	4.99	4.99	0.66335	.	0.058425	0.64402	D	0.000001	T	0.20373	0.0490	L	0.58810	1.83	0.80722	D	1	D	0.54601	0.967	B	0.38562	0.276	T	0.08249	-1.0731	10	0.87932	D	0	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	427	Q9UPG8	PLAL2_HUMAN	L	427	ENSP00000246229:P427L	ENSP00000246229:P427L	P	-	2	0	PLAGL2	30248127	1.000000	0.71417	0.955000	0.39395	0.895000	0.52256	9.646000	0.98474	2.590000	0.87494	0.650000	0.86243	CCG	PLAGL2	-	NULL	ENSG00000126003		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL2	HGNC	protein_coding	OTTHUMT00000078615.2	-	0	72	0	G	NM_002657		30784466	-1	tier1	-	no_errors	ENST00000246229	ensembl	human	known	74_37	missense	12.12	58	8	SNP	1.000	A	A	30784466	G	A	30784466	3	1	87	1	0	0	0	0	1	0	0	0	12059	1116	39	1	214	1	PLAGL2	20	30784466	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	53603	30784466	32241054	1876	25000											
MAPRE1	22919	genome.wustl.edu	37	chr20	31424518	31424518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggttcaagaagtttttcGatgcaaactatgatggaaaa	15	12	10	4	1	1	2	1	1	0	1	2	4	1	3	0	2	2	3	0	2	6	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:31424518G>A	ENST00000375571.5	+	4	485	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	116	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of microtubule plus-end binding (GO:1903033)|protein localization to microtubule (GO:0035372)	cell projection membrane (GO:0031253)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule plus-end (GO:0035371)	microtubule plus-end binding (GO:0051010)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAGTTTTTCGATGCAAACTA	0.408																																																	0													81	79	80					20																	31424518		2203	4300	6503	SO:0001583	missense	0			U24166	CCDS13208.1	20q11.1-q11.3	2013-01-17			ENSG00000101367	ENSG00000101367			6890	protein-coding gene	gene with protein product	"adenomatous polyposis coli-binding protein EB1"	603108				7606712, 9724749, 11470413	Standard	NM_012325		Approved	EB1	uc002wyh.3	Q15691	OTTHUMG00000032228	ENST00000375571.5:c.346G>A	20.37:g.31424518G>A	ENSP00000364721:p.Asp116Asn		B2R6I7|E1P5M8|Q3KQS8	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain	p.D116N	ENST00000375571.5	37	c.346	CCDS13208.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.083425	0.94050	.	.	ENSG00000101367	ENST00000375571	T	0.48201	0.82	4.45	4.45	0.53987	Calponin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.89030	3	0.80722	D	1	D	0.56968	0.978	B	0.44108	0.441	T	0.71826	-0.4475	10	0.56958	D	0.05	-21.5638	16.6237	0.84936	0.0:0.0:1.0:0.0	.	116	Q15691	MARE1_HUMAN	N	116	ENSP00000364721:D116N	ENSP00000364721:D116N	D	+	1	0	MAPRE1	30888179	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.531000	0.98054	2.465000	0.83290	0.655000	0.94253	GAT	MAPRE1	-	superfamily_CH-domain,pfscan_CH-domain	ENSG00000101367		0.408	MAPRE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE1	HGNC	protein_coding	OTTHUMT00000078647.2	-	0	58	0	G	NM_012325		31424518	1	tier1	-	no_errors	ENST00000375571	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	A	A	31424518	G	A	31424518	3	1	87	1	0	0	0	0	1	0	0	0	9332	1058	37	1	356	1	MAPRE1	20	31424518	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	640052	31424518	31601002	1877	25001											
MYH7B	26133	genome.wustl.edu	37	chr20	33587382	33587382	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccactgcagaggagatcAgcgacctcacagaccaggtg	11	6	12	12	1	2	3	2	0	0	3	3	5	3	3	3	2	2	1	3	2	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:33587382A>G	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.S1559G			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGAGGAGATCAGCGACCTCAC	0.602																																																	0													48	55	52					20																	33587382		2134	4253	6387	SO:0001628	intergenic_variant	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33587382A>G			E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1559G	ENST00000252015.2	37	c.4675	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	A	10.69	1.422261	0.25639	.	.	ENSG00000078814	ENST00000262873	D	0.83163	-1.69	4.22	4.22	0.49857	Myosin tail (1);	0.000000	0.40640	N	0.001044	T	0.80341	0.4605	M	0.79614	2.46	0.26058	N	0.981399	B	0.30146	0.27	B	0.28916	0.096	T	0.75451	-0.3313	10	0.66056	D	0.02	.	6.5161	0.22248	0.8098:0.0:0.1902:0.0	.	1517	A7E2Y1	MYH7B_HUMAN	G	1559	ENSP00000262873:S1559G	ENSP00000262873:S1559G	S	+	1	0	MYH7B	33051043	0.139000	0.22563	1.000000	0.80357	0.630000	0.37929	0.253000	0.18296	1.907000	0.55213	0.454000	0.30748	AGC	MYH7B	-	pfam_Myosin_tail,superfamily_t-SNARE	ENSG00000078814		0.602	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078832.2	-	0	55	0	A	NM_015638		33587382	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	missense	7.14	52	4	SNP	0.998	G	G	33587382	A	G	33587382	1	3	87	0	1	0	0	0	0	0	0	0	10078	188	7	4		4	MYH7B	20	33587382	IGR	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2162864	33587382	29438138	1878	25002											
CPNE1	8904	genome.wustl.edu	37	chr20	34218840	34218840	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagtcatagtcctgaacCacgctgcccacactccacag	11	6	7	17	2	1	1	1	1	0	0	3	2	3	1	4	0	2	1	4	0	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:34218840C>A	ENST00000317619.3	-	13	1372	c.978G>T	c.(976-978)gtG>gtT	p.V326V	CPNE1_ENST00000397443.1_Silent_p.V326V|CPNE1_ENST00000397445.1_Silent_p.V326V|CPNE1_ENST00000352393.4_Silent_p.V326V|CPNE1_ENST00000397446.1_Silent_p.V326V|CPNE1_ENST00000317677.5_Silent_p.V331V|CPNE1_ENST00000397442.1_Silent_p.V326V			Q99829	CPNE1_HUMAN	copine I	326	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AGTCCTGAACCACGCTGCCCA	0.567																																																	0													159	129	139					20																	34218840		2203	4300	6503	SO:0001819	synonymous_variant	0			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.978G>T	20.37:g.34218840C>A			E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.V331	ENST00000317619.3	37	c.993	CCDS13260.1	20																																																																																			CPNE1	-	pfam_Copine,smart_VWF_A	ENSG00000214078		0.567	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	-	0	37	0	C	NM_152930		34218840	-1	tier1	-	no_errors	ENST00000317677	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.997	A	A	34218840	C	A	34218840	2	1	87	1	0	0	0	0	0	0	0	1	3818	581	21	3		3	CPNE1	20	34218840	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	631458	34218840	28806680	1879	25003											
RBM12	10137	genome.wustl.edu	37	chr20	34242923	34242923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcattcctgagctaggtgGtggtcctgatctactggcat	7	13	11	10	0	2	2	1	2	1	0	4	2	4	2	2	4	2	2	2	4	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:34242923G>T	ENST00000374114.3	-	3	585	c.322C>A	c.(322-324)Cca>Aca	p.P108T	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Missense_Mutation_p.P108T|RBM12_ENST00000374104.3_Missense_Mutation_p.P108T|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	108						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAGCTAGGTGGTGGTCCTGAT	0.438											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													189	180	183					20																	34242923		2203	4300	6503	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"RNA binding motif (RRM) containing"	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.322C>A	20.37:g.34242923G>T	ENSP00000363228:p.Pro108Thr	846	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P108T	ENST00000374114.3	37	c.322	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	G	5.099	0.203900	0.09704	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000424458;ENST00000431148;ENST00000435161	T;T;T;T;T;T	0.25085	2.49;2.49;2.49;1.82;2.12;2.15	5.34	3.34	0.38264	.	0.218768	0.39687	N	0.001282	T	0.12944	0.0314	N	0.11560	0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08617	-1.0713	10	0.27082	T	0.32	0.29	10.2129	0.43152	0.0:0.133:0.5914:0.2757	.	108	Q9NTZ6	RBM12_HUMAN	T	108	ENSP00000363228:P108T;ENSP00000352668:P108T;ENSP00000363217:P108T;ENSP00000411036:P108T;ENSP00000392642:P108T;ENSP00000411692:P108T	ENSP00000352668:P108T	P	-	1	0	RBM12	33706337	0.996000	0.38824	0.666000	0.29783	0.989000	0.77384	2.410000	0.44592	0.772000	0.33382	0.650000	0.86243	CCA	RBM12	-	NULL	ENSG00000244462		0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	-	0	67	0	G	NM_006047		34242923	-1	tier1	-	no_errors	ENST00000359646	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.494	T	T	34242923	G	T	34242923	3	4	87	1	0	0	0	0	1	0	0	0	13158	1261	44	3	2480	3	RBM12	20	34242923	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	24083	34242923	28782597	1880	25004											
C20orf152	140894	genome.wustl.edu	37	chr20	34599098	34599098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaaatgtgccatgatcaaTatcaagcctggtgagctccc	12	10	8	11	0	3	2	3	2	0	0	4	2	4	2	3	1	3	1	3	1	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:34599098T>C	ENST00000373973.3	+	10	1361	c.1188T>C	c.(1186-1188)aaT>aaC	p.N396N	CNBD2_ENST00000538900.1_Silent_p.N396N|CNBD2_ENST00000349339.1_Silent_p.N396N			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	396																	CCATGATCAATATCAAGCCTG	0.537																																																	0													85	76	79					20																	34599098		2203	4300	6503	SO:0001819	synonymous_variant	0			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 152", "cyclic nucleotide (cNMP) binding domain containing 1"	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1188T>C	20.37:g.34599098T>C			Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.N396	ENST00000373973.3	37	c.1188		20																																																																																			CNBD2	-	superfamily_cNMP-bd-like	ENSG00000149646		0.537	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CNBD2	HGNC	protein_coding	OTTHUMT00000078960.2		0	54	0	T	NM_080834		34599098	1			no_errors	ENST00000373973	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.000	C	C	34599098	T	C	34599098	2	2	87	1	0	0	0	0	0	0	0	1	2099	1403	49	4		4	C20orf152	20	34599098	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	356175	34599098	28426422	1881	25005											
MYL9	10398	genome.wustl.edu	37	chr20	35176560	35176560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaccccgaggatgtgattCgcaacgcctttgcctgcttc	6	10	11	14	4	0	1	0	1	0	0	2	4	0	3	4	2	3	2	4	2	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35176560C>T	ENST00000279022.2	+	3	414	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	RP5-977B1.7_ENST00000439595.1_RNA|MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	104	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGATGTGATTCGCAACGCCTT	0.617																																																	0													110	76	88					20																	35176560		2203	4300	6503	SO:0001583	missense	0			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"Myosins / Light chain", "EF-hand domain containing"	15754	protein-coding gene	gene with protein product	"myosin regulatory light chain 2, smooth muscle isoform", "myosin regulatory light chain 1"	609905	"myosin, light polypeptide 9, regulatory"			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.310C>T	20.37:g.35176560C>T	ENSP00000279022:p.Arg104Cys		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R104C	ENST00000279022.2	37	c.310	CCDS13276.1	20	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399320	0.83120	.	.	ENSG00000101335	ENST00000279022	T	0.73575	-0.76	4.86	4.86	0.63082	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88440	0.6437	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.67231	0.95	D	0.90636	0.4571	10	0.62326	D	0.03	.	12.1073	0.53820	0.1716:0.8283:0.0:0.0	.	104	P24844	MYL9_HUMAN	C	104	ENSP00000279022:R104C	ENSP00000279022:R104C	R	+	1	0	MYL9	34609974	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	2.462000	0.45049	2.407000	0.81776	0.655000	0.94253	CGC	MYL9	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000101335		0.617	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL9	HGNC	protein_coding	OTTHUMT00000079015.2	-	0	67	0	C	NM_006097		35176560	1	tier1	-	no_errors	ENST00000279022	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	T	T	35176560	C	T	35176560	3	4	87	1	0	0	0	0	1	0	0	0	10092	884	31	1	316	1	MYL9	20	35176560	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	577462	35176560	27848960	1882	25006											
DSN1	79980	genome.wustl.edu	37	chr20	35399448	35399448	+	Frame_Shift_Del	DEL	T	T	-																															ctgagatcacaatttcccccTtttttagggctagagccaag																								rs35111724		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35399448delT	ENST00000426836.1	-	3	555	c.183delA	c.(181-183)aaafs	p.K61fs	DSN1_ENST00000448110.2_Frame_Shift_Del_p.K45fs|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_Frame_Shift_Del_p.K61fs|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_Frame_Shift_Del_p.K61fs|DSN1_ENST00000373734.4_Intron	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	61					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AATTTCCCCCTTTTTTAGGGC	0.463																																																	0													142	142	142					20																	35399448		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"kinetochore null 3 homolog (C. elegans)"	609175	"chromosome 20 open reading frame 172", "DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.183delA	20.37:g.35399448delT	ENSP00000389810:p.Lys61fs		B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Frame_Shift_Del	DEL	pfam_Dsn1/Mis13	p.G63fs	ENST00000426836.1	37	c.183	CCDS13286.1	20																																																																																			DSN1	-	NULL	ENSG00000149636		0.463	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSN1	HGNC	protein_coding	OTTHUMT00000079043.2		0	61	0	T	NM_024918		35399448	-1	tier1		no_errors	ENST00000373745	ensembl	human	known	74_37	frame_shift_del	24.53	40	13	DEL	0.000	-	-	35399448	T	-	35399448	7	5	87	1	0	1	0	1	0	0	0	0	4794	1606	56	0	923	0	DSN1	20	35399448	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	222888	35399448	27626072	1883	25007											
C20orf117	140710	genome.wustl.edu	37	chr20	35414897	35414897	+	Frame_Shift_Del	DEL	G	G	-																															tggctgctctgtcactcgctGggggggagtgccctctcctc																								rs374486778		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35414897delG	ENST00000357779.3	-	15	4589	c.4263delC	c.(4261-4263)cccfs	p.P1421fs	SOGA1_ENST00000279034.6_Intron|SOGA1_ENST00000237536.4_Frame_Shift_Del_p.P1659fs|SOGA1_ENST00000456801.2_Frame_Shift_Del_p.P1262fs			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	1421					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCACTCGCTGGGGGGGAGTG	0.667																																																	0													26	31	30					20																	35414897		692	1591	2283	SO:0001589	frameshift_variant	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"suppressor of glucose by autophagy", "suppressor of glucose from autophagy"		"chromosome 20 open reading frame 117", "KIAA0889"	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.4263delC	20.37:g.35414897delG	ENSP00000350424:p.Pro1421fs		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Frame_Shift_Del	DEL	pfam_SOGA	p.S1660fs	ENST00000357779.3	37	c.4977		20																																																																																			SOGA1	-	NULL	ENSG00000149639		0.667	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding			0	63	0	G	NM_199181		35414897	-1	tier1		no_errors	ENST00000237536	ensembl	human	known	74_37	frame_shift_del	17.78	37	8	DEL	0.644	-	-	35414897	G	-	35414897	7	5	87	1	0	1	0	1	0	0	0	0	2090	1335	47	0	74	0	C20orf117	20	35414897	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	15449	35414897	27610623	1884	25008											
RBL1	5933	genome.wustl.edu	37	chr20	35689630	35689630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcttctttttctcgtaaatAtctccgtccggtcagtgggg	5	16	10	10	3	4	0	1	0	3	0	7	0	5	0	2	3	1	2	2	3	3	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:35689630A>G	ENST00000373664.3	-	9	1192	c.1126T>C	c.(1126-1128)Tat>Cat	p.Y376H	RBL1_ENST00000344359.3_Missense_Mutation_p.Y376H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	376					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCTCGTAAATATCTCCGTCCG	0.423																																																	0													116	110	112					20																	35689630		2203	4300	6503	SO:0001583	missense	0			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1126T>C	20.37:g.35689630A>G	ENSP00000362768:p.Tyr376His		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like	p.Y376H	ENST00000373664.3	37	c.1126	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971042	0.74246	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.94046	-3.09;-3.34	4.68	3.57	0.40892	.	0.121926	0.64402	D	0.000020	D	0.95736	0.8613	M	0.81497	2.545	0.54753	D	0.999985	D;D	0.89917	1.0;0.989	D;P	0.91635	0.999;0.844	D	0.93662	0.6982	10	0.22706	T	0.39	-14.6989	10.7007	0.45926	0.857:0.0:0.0:0.1429	.	376;376	P28749-2;P28749	.;RBL1_HUMAN	H	376	ENSP00000362768:Y376H;ENSP00000343646:Y376H	ENSP00000343646:Y376H	Y	-	1	0	RBL1	35123044	1.000000	0.71417	0.516000	0.27786	0.972000	0.66771	8.587000	0.90810	0.790000	0.33803	0.533000	0.62120	TAT	RBL1	-	NULL	ENSG00000080839		0.423	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	-	0	49	0	A	NM_002895		35689630	-1	tier1	-	no_errors	ENST00000373664	ensembl	human	known	74_37	missense	15.25	50	9	SNP	0.988	G	G	35689630	A	G	35689630	3	3	87	1	0	0	0	0	1	0	0	0	13154	449	16	4	2145	4	RBL1	20	35689630	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	274733	35689630	27335890	1885	25009											
KIAA0406	9675	genome.wustl.edu	37	chr20	36627613	36627613	+	Frame_Shift_Del	DEL	G	G	-																															gaaggctctaagcactgccaGgggggcgtcccgtgtgagtc																								rs149568606		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:36627613delG	ENST00000373448.2	-	6	3008	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_ENST00000449821.1_Frame_Shift_Del_p.L924fs|TTI1_ENST00000373447.3_Frame_Shift_Del_p.L924fs	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	924					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L924fs*37(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCACTGCCAGGGGGGCGTCC	0.577																																																	1	Deletion - Frameshift(1)	large_intestine(1)											76	73	74					20																	36627613		2203	4300	6503	SO:0001589	frameshift_variant	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"	614425	"KIAA0406", "Tel2 interacting protein 1 homolog (S. pombe)"	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2770delC	20.37:g.36627613delG	ENSP00000362547:p.Leu924fs		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pirsf_UCP005250	p.L924fs	ENST00000373448.2	37	c.2770	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.577	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2		0	52	0	G	NM_014657		36627613	-1	tier1		no_errors	ENST00000373447	ensembl	human	known	74_37	frame_shift_del	15.09	45	8	DEL	1.000	-	-	36627613	G	-	36627613	7	5	87	1	0	1	0	1	0	0	0	0	8200	991	35	0	515	0	KIAA0406	20	36627613	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	937983	36627613	26397907	1886	25010											
RALGAPB	57148	genome.wustl.edu	37	chr20	37146233	37146233	+	Frame_Shift_Del	DEL	C	C	-																															aagtgctgctgtcagtaccaCccccccacataaccggaggc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:37146233delC	ENST00000262879.6	+	8	1420	c.1136delC	c.(1135-1137)accfs	p.T379fs	MIR548O2_ENST00000583129.1_RNA|RALGAPB_ENST00000397040.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Del_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Del_p.T157fs|RALGAPB_ENST00000397042.3_Frame_Shift_Del_p.T379fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	379					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.H382fs*2(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGTACCACCCCCCCACAT	0.448																																																	1	Insertion - Frameshift(1)	lung(1)											134	123	126					20																	37146233		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1136delC	20.37:g.37146233delC	ENSP00000262879:p.Thr379fs		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.P381fs	ENST00000262879.6	37	c.1136	CCDS13305.1	20																																																																																			RALGAPB	-	NULL	ENSG00000170471		0.448	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1		0	104	0	C	NM_020336		37146233	1	tier1		no_errors	ENST00000262879	ensembl	human	known	74_37	frame_shift_del	25.97	57	20	DEL	1.000	-	-	37146233	C	-	37146233	7	5	87	1	0	1	0	1	0	0	0	0	13060	507	18	0	1162	0	RALGAPB	20	37146233	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	518620	37146233	25879287	1887	25011											
DHX35	60625	genome.wustl.edu	37	chr20	37647465	37647465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctggacaaagactgtcGcctaactgaaccgcttggca	11	8	11	11	2	1	2	0	1	1	1	2	3	1	3	2	3	2	2	2	3	3	2	rs552753338		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:37647465G>A	ENST00000252011.3	+	15	1454	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	DHX35_ENST00000373323.4_Missense_Mutation_p.R443H|DHX35_ENST00000373325.2_Missense_Mutation_p.R474H	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	474					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAAGACTGTCGCCTAACTGAA	0.443													G|||	1	0.000199681	0	0.0014	5008	,	,		14206	0		0	False		,,,				2504	0																0													179	170	173					20																	37647465		2203	4300	6503	SO:0001583	missense	0			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"DEAH-boxes"	15861	protein-coding gene	gene with protein product			"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1421G>A	20.37:g.37647465G>A	ENSP00000252011:p.Arg474His		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R474H	ENST00000252011.3	37	c.1421	CCDS13310.1	20	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572402	0.45798	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323	T;T;T	0.32023	1.47;1.47;1.47	5.94	0.0614	0.14340	Helicase-associated domain (2);	0.240231	0.50627	N	0.000102	T	0.22936	0.0554	L	0.50847	1.595	0.58432	D	0.999998	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.14227	-1.0480	10	0.12766	T	0.61	.	11.3213	0.49424	0.3829:0.0:0.6171:0.0	.	443;474	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	H	474;474;443	ENSP00000362422:R474H;ENSP00000252011:R474H;ENSP00000362420:R443H	ENSP00000252011:R474H	R	+	2	0	DHX35	37080879	0.996000	0.38824	0.967000	0.41034	0.959000	0.62525	2.368000	0.44222	0.128000	0.18479	-0.251000	0.11542	CGC	DHX35	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000101452		0.443	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	-	0	55	0	G	NM_021931		37647465	1	tier1	-	no_errors	ENST00000252011	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.895	A	A	37647465	G	A	37647465	3	1	87	1	0	0	0	0	1	0	0	0	4522	1087	38	1	1479	1	DHX35	20	37647465	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	501232	37647465	25378055	1888	25012											
LPIN3	64900	genome.wustl.edu	37	chr20	39981291	39981291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccaggacctcaccaaaaAccccggacttttggatgacc	12	8	7	14	1	1	1	1	1	0	0	1	4	1	4	6	3	2	0	6	3	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:39981291A>C	ENST00000373257.3	+	10	1500	c.1409A>C	c.(1408-1410)aAc>aCc	p.N470T		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	470					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCACCAAAAACCCCGGACTT	0.547																																																	0													164	180	175					20																	39981291		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1409A>C	20.37:g.39981291A>C	ENSP00000362354:p.Asn470Thr		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.N470T	ENST00000373257.3	37	c.1409	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234405	0.58886	.	.	ENSG00000132793	ENST00000373257;ENST00000373259	D	0.84223	-1.82	4.89	4.89	0.63831	.	0.112350	0.56097	D	0.000023	D	0.92731	0.7689	M	0.88775	2.98	0.58432	D	0.999992	D;P	0.67145	0.996;0.561	D;B	0.70016	0.967;0.157	D	0.93724	0.7035	9	.	.	.	-22.1703	13.3518	0.60605	1.0:0.0:0.0:0.0	.	471;470	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	T	470;134	ENSP00000362354:N470T	.	N	+	2	0	LPIN3	39414705	1.000000	0.71417	0.888000	0.34837	0.227000	0.25037	9.315000	0.96313	1.839000	0.53478	0.402000	0.26972	AAC	LPIN3	-	NULL	ENSG00000132793		0.547	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	73	0	A	NM_022896		39981291	1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	22.58	48	14	SNP	1.000	C	C	39981291	A	C	39981291	3	2	87	1	0	0	0	0	1	0	0	0	8955	43	2	4	1443	4	LPIN3	20	39981291	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2333826	39981291	23044229	1889	25013											
LPIN3	64900	genome.wustl.edu	37	chr20	39986087	39986087	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctatcacaaaatccaacTgtgagtgcctgggctggggc	9	10	11	11	0	2	1	1	1	1	0	4	1	3	1	2	3	2	1	2	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:39986087T>C	ENST00000373257.3	+	16	2130	c.2039T>C	c.(2038-2040)cTa>cCa	p.L680P		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	680	C-LIP.				fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AAAATCCAACTGTGAGTGCCT	0.607																																																	0													57	51	53					20																	39986087		2203	4300	6503	SO:0001630	splice_region_variant	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"lipin 3-like"	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2039+1T>C	20.37:g.39986087T>C			B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.L680P	ENST00000373257.3	37	c.2039	CCDS33469.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.68|17.68	3.449174|3.449174	0.63178|0.63178	.|.	.|.	ENSG00000132793|ENSG00000132793	ENST00000373257;ENST00000373259|ENST00000445975	T|.	0.76186|.	-1.0|.	5.2|5.2	5.2|5.2	0.72013|0.72013	HAD-like domain (2);LNS2, Lipin/Ned1/Smp2 (2);|.	0.087066|.	0.48767|.	D|.	0.000177|.	T|.	0.54549|.	0.1865|.	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.91635|.	0.976;0.999|.	T|.	0.52533|.	-0.8563|.	9|.	.|.	.|.	.|.	-6.7575|-6.7575	9.5737|9.5737	0.39445|0.39445	0.0:0.0789:0.0:0.9211|0.0:0.0789:0.0:0.9211	.|.	681;680|.	Q9BQK8-2;Q9BQK8|.	.;LPIN3_HUMAN|.	P|Q	680;313|170	ENSP00000362354:L680P|.	.|.	L|X	+|+	2|1	0|0	LPIN3|LPIN3	39419501|39419501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	2.995000|2.995000	0.49441|0.49441	1.959000|1.959000	0.56917|0.56917	0.460000|0.460000	0.39030|0.39030	CTA|TAA	LPIN3	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2	ENSG00000132793		0.607	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0	36	0	T	NM_022896	Missense_Mutation	39986087	1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	C	C	39986087	T	C	39986087	5	2	87	1	0	0	0	0	0	0	1	0	8955	1594	55	4	2097	4	LPIN3	20	39986087	Splice_Site	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	4796	39986087	23039433	1890	25014											
CHD6	84181	genome.wustl.edu	37	chr20	40052243	40052243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaaacgggaaatgatgcGgaactgtgtccagtcaaagg	13	7	13	8	2	1	1	1	1	0	0	3	3	3	3	2	3	3	0	2	3	4	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:40052243G>A	ENST00000373233.3	-	30	4621	c.4444C>T	c.(4444-4446)Cgc>Tgc	p.R1482C		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1482	Myb-like.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAAATGATGCGGAACTGTGTC	0.443																																																	0													163	170	168					20																	40052243		2203	4300	6503	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4444C>T	20.37:g.40052243G>A	ENSP00000362330:p.Arg1482Cys		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1482C	ENST00000373233.3	37	c.4444	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928613	0.92389	.	.	ENSG00000124177	ENST00000373233	D	0.94793	-3.52	6.07	6.07	0.98685	SANT domain, DNA binding (1);	0.000000	0.64402	D	0.000007	D	0.97876	0.9302	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97909	1.0307	10	0.87932	D	0	-12.954	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1482	Q8TD26	CHD6_HUMAN	C	1482	ENSP00000362330:R1482C	ENSP00000362330:R1482C	R	-	1	0	CHD6	39485657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.405000	0.73272	2.884000	0.98904	0.655000	0.94253	CGC	CHD6	-	NULL	ENSG00000124177		0.443	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	-	0	44	0	G			40052243	-1	tier1	-	no_errors	ENST00000373233	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A	A	40052243	G	A	40052243	3	1	87	1	0	0	0	0	1	0	0	0	3336	1116	39	1	3735	1	CHD6	20	40052243	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	66156	40052243	22973277	1891	25015											
GDAP1L1	78997	genome.wustl.edu	37	chr20	42907925	42907926	+	Frame_Shift_Ins	INS	-	-	A																															ttgcctactggtacctcaagINSaaaaaatacatctagggcca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:42907925_42907926insA	ENST00000342560.5	+	6	1177_1178	c.1089_1090insA	c.(1090-1092)aaafs	p.K364fs	GDAP1L1_ENST00000537864.1_Frame_Shift_Ins_p.K172fs	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	364										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTACCTCAAGAAAAAATACAT	0.559																																																	0																																										SO:0001589	frameshift_variant	0				CCDS13328.1, CCDS74725.1, CCDS74726.1, CCDS74727.1	20q12	2012-02-09	2012-02-09		ENSG00000124194	ENSG00000124194			4213	protein-coding gene	gene with protein product							Standard	NM_024034		Approved		uc010zwl.3	Q96MZ0	OTTHUMG00000032530	ENST00000342560.5:c.1095dupA	20.37:g.42907931_42907931dupA	ENSP00000341782:p.Lys364fs		B7Z621|Q5TE60|Q68CW7|Q9BQJ7|Q9BQV4|Q9BWJ4|Q9H3Y2|Q9H4G5	Frame_Shift_Ins	INS	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.Y365fs	ENST00000342560.5	37	c.1089_1090	CCDS13328.1	20																																																																																			GDAP1L1	-	NULL	ENSG00000124194		0.559	GDAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP1L1	HGNC	protein_coding	OTTHUMT00000079356.1		0	34	0	-	NM_024034		42907926	1	tier1		no_errors	ENST00000342560	ensembl	human	known	74_37	frame_shift_ins	29.03	22	9	INS	1.000:1.000	A	A	42907926	-	A	42907925	7	5	87	1	0	1	1	0	0	0	0	0	6333	933	33	0	1111	0	GDAP1L1	20	42907925	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2855682	42907925	20117595	1892	25016											
KCNS1	3787	genome.wustl.edu	37	chr20	43723597	43723597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaggtttctcgggatgTctccagagatgcctccgaca	8	10	12	11	2	2	2	0	1	2	2	5	6	3	3	3	2	1	1	3	2	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:43723597T>C	ENST00000306117.1	-	5	1891	c.1495A>G	c.(1495-1497)Aca>Gca	p.T499A	KCNS1_ENST00000537075.1_Missense_Mutation_p.T499A	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	499					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TCTCGGGATGTCTCCAGAGAT	0.577																																																	0													106	112	110					20																	43723597		2203	4300	6503	SO:0001583	missense	0			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.1495A>G	20.37:g.43723597T>C	ENSP00000307694:p.Thr499Ala		A2RUL9|B7ZM31|O43652|Q6DJU6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6	p.T499A	ENST00000306117.1	37	c.1495	CCDS13342.1	20	.	.	.	.	.	.	.	.	.	.	T	9.763	1.170614	0.21621	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	D;D	0.96300	-3.97;-3.97	5.67	4.56	0.56223	.	0.178416	0.40385	N	0.001120	D	0.87881	0.6289	N	0.12182	0.205	0.31314	N	0.686861	B	0.02656	0.0	B	0.04013	0.001	T	0.79162	-0.1917	10	0.12103	T	0.63	.	4.0789	0.09917	0.0:0.195:0.0:0.805	.	499	Q96KK3	KCNS1_HUMAN	A	499	ENSP00000307694:T499A;ENSP00000445595:T499A	ENSP00000307694:T499A	T	-	1	0	KCNS1	43157011	0.735000	0.28153	0.970000	0.41538	0.603000	0.37013	0.469000	0.22067	2.163000	0.67991	0.459000	0.35465	ACA	KCNS1	-	NULL	ENSG00000124134		0.577	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS1	HGNC	protein_coding	OTTHUMT00000080507.3	-	0	42	0	T	NM_002251		43723597	-1	tier1	-	no_errors	ENST00000306117	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.948	C	C	43723597	T	C	43723597	3	2	87	1	0	0	0	0	1	0	0	0	8115	1667	58	4	89	4	KCNS1	20	43723597	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	815672	43723597	19301923	1893	25017											
MATN4	8785	genome.wustl.edu	37	chr20	43926824	43926824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccttcctccttggcgCgcgctgcccacaccgagatg	5	7	10	19	4	0	1	0	0	0	1	2	2	2	1	6	1	1	1	6	1	0	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:43926824C>T	ENST00000372754.1	-	7	1543	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	MATN4_ENST00000342716.4_Missense_Mutation_p.R471H|MATN4_ENST00000353917.5_Missense_Mutation_p.R389H|MATN4_ENST00000372751.4_Missense_Mutation_p.R322H|MATN4_ENST00000537548.1_Missense_Mutation_p.R471H|MATN4_ENST00000372756.1_Missense_Mutation_p.R471H|MATN4_ENST00000360607.6_Missense_Mutation_p.R430H			O95460	MATN4_HUMAN	matrilin 4	512	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTCCTTGGCGCGCGCTGCCCA	0.677																																																	0													48	42	44					20																	43926824		2203	4300	6503	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1535G>A	20.37:g.43926824C>T	ENSP00000361840:p.Arg512His		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.R512H	ENST00000372754.1	37	c.1535		20	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083405	0.76642	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	5.46	5.46	0.80206	.	0.000000	0.44483	D	0.000458	D	0.89660	0.6779	M	0.75615	2.305	0.43750	D	0.996258	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.73380	0.98;0.896;0.977	D	0.90237	0.4283	10	0.72032	D	0.01	.	11.7666	0.51935	0.0:0.9199:0.0:0.0801	.	389;430;471	A6NNA4;O95460-4;O95460-2	.;.;.	H	322;512;471;389;430;471;471;512;322	ENSP00000361839:R322H;ENSP00000361840:R512H;ENSP00000361842:R471H;ENSP00000243983:R389H;ENSP00000353819:R430H;ENSP00000343164:R471H;ENSP00000440328:R471H;ENSP00000361837:R322H	ENSP00000255132:R512H	R	-	2	0	MATN4	43360238	0.998000	0.40836	0.925000	0.36789	0.848000	0.48234	3.289000	0.51747	2.559000	0.86315	0.644000	0.83932	CGC	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.677	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	-	0	19	0	C			43926824	-1	tier1	-	no_errors	ENST00000372754	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.996	T	T	43926824	C	T	43926824	3	4	87	1	0	0	0	0	1	0	0	0	9374	768	27	1	349	1	MATN4	20	43926824	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	203227	43926824	19098696	1894	25018											
RBPJL	11317	genome.wustl.edu	37	chr20	43940969	43940969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagctgggtaccttcCacagccgccttatcaaggtc	7	8	12	14	2	1	0	1	0	0	0	3	1	2	1	5	3	3	2	5	3	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:43940969C>A	ENST00000343694.3	+	6	625	c.553C>A	c.(553-555)Cac>Aac	p.H185N	RBPJL_ENST00000372741.3_Missense_Mutation_p.H185N|RBPJL_ENST00000372743.1_Missense_Mutation_p.H185N	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	185					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GGGTACCTTCCACAGCCGCCT	0.642																																																	0													31	33	32					20																	43940969		2203	4299	6502	SO:0001583	missense	0			AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"recombining binding protein suppressor of hairless (Drosophila)-like"	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.553C>A	20.37:g.43940969C>A	ENSP00000341243:p.His185Asn		O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set	p.H185N	ENST00000343694.3	37	c.553	CCDS13349.1	20	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704629	0.30232	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.81996	-1.56;-1.56;-1.56	3.9	3.9	0.45041	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.158491	0.43579	D	0.000556	T	0.63988	0.2558	N	0.11341	0.13	0.39632	D	0.970194	B;B	0.25007	0.116;0.061	B;B	0.24974	0.057;0.031	T	0.59778	-0.7390	10	0.12766	T	0.61	-34.545	9.2567	0.37588	0.0:0.8994:0.0:0.1006	.	185;185	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	N	185	ENSP00000361828:H185N;ENSP00000361826:H185N;ENSP00000341243:H185N	ENSP00000341243:H185N	H	+	1	0	RBPJL	43374383	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.326000	0.43849	2.144000	0.66660	0.448000	0.29417	CAC	RBPJL	-	pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000124232		0.642	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBPJL	HGNC	protein_coding	OTTHUMT00000080391.1	-	0	95	0	C	NM_014276		43940969	1	tier1	-	no_errors	ENST00000343694	ensembl	human	known	74_37	missense	16.42	56	11	SNP	1.000	A	A	43940969	C	A	43940969	3	1	87	1	0	0	0	0	1	0	0	0	13207	594	21	3	575	3	RBPJL	20	43940969	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	14145	43940969	19084551	1895	25019											
PIGT	51604	genome.wustl.edu	37	chr20	44050026	44050026	+	Frame_Shift_Del	DEL	C	C	-																															gatatttctttacacagaggCccccccagtgcccttcctgc																								rs530768714		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:44050026delC	ENST00000279036.6	+	9	1117	c.1037delC	c.(1036-1038)gccfs	p.A346fs	PIGT_ENST00000372689.5_Intron|PIGT_ENST00000543458.2_Frame_Shift_Del_p.A290fs|PIGT_ENST00000341555.5_Frame_Shift_Del_p.A152fs|PIGT_ENST00000545755.1_Frame_Shift_Del_p.A84fs|PIGT_ENST00000535404.1_Frame_Shift_Del_p.A191fs|PIGT_ENST00000279035.9_Frame_Shift_Del_p.A244fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TACACAGAGGCCCCCCCAGTG	0.577																																																	0													30	31	31					20																	44050026		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"Phosphatidylinositol glycan anchor biosynthesis"	14938	protein-coding gene	gene with protein product	"GPI transamidase subunit"	610272	"phosphatidylinositol glycan, class T"			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1037delC	20.37:g.44050026delC	ENSP00000279036:p.Ala346fs		B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Del	DEL	pfam_PIG-T	p.P348fs	ENST00000279036.6	37	c.1037	CCDS13353.1	20																																																																																			PIGT	-	pfam_PIG-T	ENSG00000124155		0.577	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGT	HGNC	protein_coding	OTTHUMT00000079434.2		0	55	0	C	NM_015937		44050026	1	tier1		no_errors	ENST00000279036	ensembl	human	known	74_37	frame_shift_del	14.71	29	5	DEL	0.666	-	-	44050026	C	-	44050026	7	5	87	1	0	1	0	1	0	0	0	0	11938	739	26	0	1071	0	PIGT	20	44050026	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	109057	44050026	18975494	1896	25020											
ZNF335	63925	genome.wustl.edu	37	chr20	44588005	44588005	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgtgtcggcaccgtacGtgcaggcgcaggttcttctt	4	12	13	12	5	2	0	0	0	2	0	3	0	2	0	1	3	3	5	1	3	1	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:44588005G>A	ENST00000322927.2	-	15	2188	c.2088C>T	c.(2086-2088)caC>caT	p.H696H	ZNF335_ENST00000426788.1_Silent_p.H541H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	696					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGCACCGTACGTGCAGGCGCA	0.632																																																	0													55	44	48					20																	44588005		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2088C>T	20.37:g.44588005G>A			B4DLG7|Q548D0|Q9H684	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H696	ENST00000322927.2	37	c.2088	CCDS13389.1	20																																																																																			ZNF335	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198026		0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0	54	0	G	NM_022095		44588005	-1	tier1	-	no_errors	ENST00000322927	ensembl	human	known	74_37	silent	33.33	28	14	SNP	0.990	A	A	44588005	G	A	44588005	2	1	87	1	0	0	0	0	0	0	0	1	17900	1136	40	1		1	ZNF335	20	44588005	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	537979	44588005	18437515	1897	25021											
MMP9	4318	genome.wustl.edu	37	chr20	44640819	44640819	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactcggcgggggagctgtgCgtcttccccttcactttcct	4	12	11	14	3	2	0	1	0	1	0	5	1	4	1	3	3	3	1	3	3	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:44640819C>T	ENST00000372330.3	+	7	1060	c.1041C>T	c.(1039-1041)tgC>tgT	p.C347C	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	347	Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GGGAGCTGTGCGTCTTCCCCT	0.607																																																	0													63	71	69					20																	44640819		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)", "matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1041C>T	20.37:g.44640819C>T			B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.C347	ENST00000372330.3	37	c.1041	CCDS13390.1	20																																																																																			MMP9	-	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000100985		0.607	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	-	0	41	0	C			44640819	1	tier1	-	no_errors	ENST00000372330	ensembl	human	known	74_37	silent	27.03	26	10	SNP	0.998	T	T	44640819	C	T	44640819	2	4	87	1	0	0	0	0	0	0	0	1	9707	776	27	1		1	MMP9	20	44640819	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	52814	44640819	18384701	1898	25022											
EYA2	2139	genome.wustl.edu	37	chr20	45771768	45771768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccttgcagatacacatcTgttcttcaatgacctggagg	11	11	8	11	0	3	2	1	1	2	1	3	3	3	3	2	2	3	2	2	2	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:45771768T>C	ENST00000327619.5	+	10	1333	c.959T>C	c.(958-960)cTg>cCg	p.L320P	EYA2_ENST00000357410.3_Missense_Mutation_p.L320P|EYA2_ENST00000317304.6_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	320					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GATACACATCTGTTCTTCAAT	0.448																																					Pancreas(120;56 1725 18501 25218 43520)												0													223	171	189					20																	45771768		2203	4300	6503	SO:0001583	missense	0				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"Protein tyrosine phosphatases / Asp-based PTPs"	3520	protein-coding gene	gene with protein product		601654	"eyes absent (Drosophila) homolog 2", "eyes absent homolog 2 (Drosophila)"			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.959T>C	20.37:g.45771768T>C	ENSP00000333640:p.Leu320Pro		Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.L320P	ENST00000327619.5	37	c.959	CCDS13403.1	20	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622420	0.87460	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000458636	D;D;D	0.82526	-1.62;-1.62;-1.62	6.17	6.17	0.99709	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92120	0.7502	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93055	0.6469	10	0.87932	D	0	-13.5392	16.8222	0.85835	0.0:0.0:0.0:1.0	.	320;320;320	O00167-3;A8KAG7;O00167	.;.;EYA2_HUMAN	P	320;320;191	ENSP00000333640:L320P;ENSP00000349986:L320P;ENSP00000395427:L191P	ENSP00000333640:L320P	L	+	2	0	EYA2	45205175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.344000	0.79328	2.371000	0.80710	0.533000	0.62120	CTG	EYA2	-	pfam_HAD-like_dom,tigrfam_EYA	ENSG00000064655		0.448	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2		0	33	0	T	NM_005244		45771768	1			no_errors	ENST00000327619	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	C	C	45771768	T	C	45771768	3	2	87	1	0	0	0	0	1	0	0	0	5345	1580	55	4	993	4	EYA2	20	45771768	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1130949	45771768	17253752	1899	25023											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47602031	47602031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccaacttgacttctgtgaAaaagaatttgtctcagccct	12	12	7	10	0	2	3	1	2	2	1	3	4	2	3	2	0	2	0	2	0	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:47602031A>T	ENST00000371917.4	+	16	2157	c.2157A>T	c.(2155-2157)gaA>gaT	p.E719D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	719	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACTTCTGTGAAAAAGAATTTG	0.468																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													128	112	117					20																	47602031		2203	4300	6503	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2157A>T	20.37:g.47602031A>T	ENSP00000360985:p.Glu719Asp		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.E719D	ENST00000371917.4	37	c.2157	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153811	0.38021	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.74842	-0.88	6.03	-4.23	0.03789	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.099808	0.64402	D	0.000002	T	0.39600	0.1084	N	0.02120	-0.675	0.33643	D	0.607539	B	0.02656	0.0	B	0.01281	0.0	T	0.42068	-0.9473	10	0.08599	T	0.76	.	13.053	0.58964	0.3467:0.0977:0.5556:0.0	.	719	Q9Y6D5	BIG2_HUMAN	D	719	ENSP00000360985:E719D	ENSP00000360985:E719D	E	+	3	2	ARFGEF2	47035438	0.723000	0.28027	0.977000	0.42913	0.993000	0.82548	-0.046000	0.11983	-0.573000	0.05998	0.533000	0.62120	GAA	ARFGEF2	-	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000124198		0.468	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	-	0	73	0	A	NM_006420		47602031	1	tier1	-	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.780	T	T	47602031	A	T	47602031	3	4	87	1	0	0	0	0	1	0	0	0	853	11	1	5	2219	5	ARFGEF2	20	47602031	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	1830263	47602031	15423489	1900	25024											
NFATC2	4773	genome.wustl.edu	37	chr20	50139933	50139933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggtcctggggtgccaCgtgagatgagggctgcggcg	4	7	20	10	4	0	2	0	2	0	1	1	3	1	2	3	5	2	1	3	5	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:50139933C>T	ENST00000396009.3	-	2	1066	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	NFATC2_ENST00000414705.1_Missense_Mutation_p.V263M|NFATC2_ENST00000610033.1_Missense_Mutation_p.V64M|NFATC2_ENST00000609943.1_Missense_Mutation_p.V263M|NFATC2_ENST00000371564.3_Missense_Mutation_p.V283M|NFATC2_ENST00000609507.1_Missense_Mutation_p.V64M	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	283	3 X approximate SP repeats.				B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGGGTGCCACGTGAGATGAG	0.711																																																	0													9	11	10					20																	50139933		2166	4229	6395	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.847G>A	20.37:g.50139933C>T	ENSP00000379330:p.Val283Met		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.V283M	ENST00000396009.3	37	c.847	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	C	5.518	0.280487	0.10458	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.80033	-1.33;-1.33;-1.33	3.24	-0.451	0.12214	.	0.725664	0.12999	N	0.421799	T	0.69043	0.3067	L	0.58810	1.83	0.09310	N	1	P;D;D;D	0.56035	0.943;0.974;0.974;0.974	B;B;B;B	0.37508	0.252;0.252;0.186;0.186	T	0.62253	-0.6893	10	0.54805	T	0.06	-2.2297	4.9352	0.13937	0.0:0.4369:0.3187:0.2444	.	263;263;283;283	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	M	283;283;64;263	ENSP00000360619:V283M;ENSP00000379330:V283M;ENSP00000396471:V263M	ENSP00000360619:V283M	V	-	1	0	NFATC2	49573340	0.000000	0.05858	0.823000	0.32752	0.522000	0.34438	-1.273000	0.02823	0.330000	0.23485	-0.666000	0.03841	GTG	NFATC2	-	NULL	ENSG00000101096		0.711	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0	36	0	C	NM_012340		50139933	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	15.38	44	8	SNP	0.066	T	T	50139933	C	T	50139933	3	4	87	1	0	0	0	0	1	0	0	0	10401	536	19	1	2014	1	NFATC2	20	50139933	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2537902	50139933	12885587	1901	25025											
ATP9A	10079	genome.wustl.edu	37	chr20	50287773	50287773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagctgtacacgatcttgCccatgtccaggttcacacgc	8	9	8	16	2	2	0	1	0	1	0	3	1	3	0	3	1	3	3	3	1	1	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:50287773C>T	ENST00000338821.5	-	12	1325	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	ATP9A_ENST00000311637.5_Missense_Mutation_p.G218D|ATP9A_ENST00000402822.1_Missense_Mutation_p.G233D	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	354					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CACGATCTTGCCCATGTCCAG	0.507																																																	0													88	75	79					20																	50287773		2203	4300	6503	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1061G>A	20.37:g.50287773C>T	ENSP00000342481:p.Gly354Asp		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G354D	ENST00000338821.5	37	c.1061	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806684	0.90623	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.90563	-2.48;-2.69;-2.48	5.33	5.33	0.75918	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	M	0.83223	2.63	0.80722	D	1	P;D	0.67145	0.666;0.996	B;D	0.70716	0.323;0.97	D	0.96057	0.9036	10	0.87932	D	0	-26.3671	18.985	0.92766	0.0:1.0:0.0:0.0	.	233;354	O75110-2;O75110	.;ATP9A_HUMAN	D	218;354;233	ENSP00000309086:G218D;ENSP00000342481:G354D;ENSP00000385875:G233D	ENSP00000309086:G218D	G	-	2	0	ATP9A	49721180	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.436000	0.80404	2.478000	0.83669	0.313000	0.20887	GGC	ATP9A	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000054793		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0	51	0	C	NM_006045		50287773	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	T	T	50287773	C	T	50287773	3	4	87	1	0	0	0	0	1	0	0	0	1199	739	26	3	2150	3	ATP9A	20	50287773	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	147840	50287773	12737747	1902	25026											
CTCFL	140690	genome.wustl.edu	37	chr20	56090790	56090790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgcgttctcatgtggCgtttcagcttgtaggtatct	5	16	12	8	2	3	1	2	1	2	0	4	1	3	1	0	2	2	5	0	2	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:56090790C>T	ENST00000608263.1	-	5	1821	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H	CTCFL_ENST00000371196.2_Missense_Mutation_p.R387H|CTCFL_ENST00000608440.1_Missense_Mutation_p.R387H|CTCFL_ENST00000502686.2_Missense_Mutation_p.R125H|CTCFL_ENST00000429804.3_Missense_Mutation_p.R387H|CTCFL_ENST00000422869.2_Missense_Mutation_p.R387H|CTCFL_ENST00000539382.1_Missense_Mutation_p.R182H|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.R387H|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000423479.3_Missense_Mutation_p.R387H|CTCFL_ENST00000608425.1_Missense_Mutation_p.R387H|CTCFL_ENST00000609232.1_Missense_Mutation_p.R387H|CTCFL_ENST00000433949.3_Missense_Mutation_p.R182H|CTCFL_ENST00000608903.1_Missense_Mutation_p.R125H	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	387					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCATGTGGCGTTTCAGCTT	0.483																																																	0													169	159	163					20																	56090790		2203	4300	6503	SO:0001583	missense	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"Zinc fingers, C2H2-type"	16234	protein-coding gene	gene with protein product	"cancer/testis antigen 27"	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1160G>A	20.37:g.56090790C>T	ENSP00000476783:p.Arg387His		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R387H	ENST00000608263.1	37	c.1160	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945802	0.92593	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.30981	1.71;1.71;1.71;1.51;1.71;1.71;1.51;1.71;1.71;1.71	5.24	5.24	0.73138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41097	D	0.000942	T	0.59824	0.2222	M	0.80746	2.51	0.50632	D	0.99988	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0	T	0.63994	-0.6511	10	0.66056	D	0.02	-47.4502	17.9608	0.89084	0.0:1.0:0.0:0.0	.	387;387;387;387;387	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	H	387;387;387;387;387;125;387;387;182;387	ENSP00000415579:R387H;ENSP00000243914:R387H;ENSP00000360239:R387H;ENSP00000415329:R387H;ENSP00000392034:R387H;ENSP00000437999:R125H;ENSP00000413713:R387H;ENSP00000403369:R387H;ENSP00000439998:R182H;ENSP00000399061:R387H	ENSP00000243914:R387H	R	-	2	0	CTCFL	55524196	1.000000	0.71417	0.863000	0.33907	0.675000	0.39556	7.493000	0.81493	2.608000	0.88229	0.650000	0.86243	CGC	CTCFL	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000124092		0.483	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	-	0	49	0	C	NM_080618		56090790	-1	tier1	-	no_errors	ENST00000423479	ensembl	human	known	74_37	missense	28.07	41	16	SNP	0.997	T	T	56090790	C	T	56090790	3	4	87	1	0	0	0	0	1	0	0	0	4010	768	27	1	855	1	CTCFL	20	56090790	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	5803017	56090790	6934730	1903	25027											
LAMA5	3911	genome.wustl.edu	37	chr20	60892021	60892021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatgcggctgtaggCgttggaggcctcgatggccc	5	8	17	11	3	0	0	0	0	0	0	1	3	0	2	2	6	2	4	2	6	1	2	rs376340588		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:60892021C>T	ENST00000252999.3	-	56	7636	c.7570G>A	c.(7570-7572)Gcc>Acc	p.A2524T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2524	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGCTGTAGGCGTTGGAGGCC	0.677																																																	0									THR/ALA	1,4373		0,1,2186	44	41	42		7570	4.3	0.9	20		42	0,8560		0,0,4280	no	missense	LAMA5	NM_005560.3	58	0,1,6466	TT,TC,CC		0.0,0.0229,0.0077	possibly-damaging	2524/3696	60892021	1,12933	2187	4280	6467	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.7570G>A	20.37:g.60892021C>T	ENSP00000252999:p.Ala2524Thr		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A2524T	ENST00000252999.3	37	c.7570	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	N	21.1	4.096124	0.76870	2.29E-4	0.0	ENSG00000130702	ENST00000252999	T	0.24538	1.85	4.26	4.26	0.50523	.	0.454377	0.22390	U	0.060687	T	0.49779	0.1577	M	0.76838	2.35	0.80722	D	1	D	0.76494	0.999	P	0.61722	0.893	T	0.58463	-0.7632	10	0.72032	D	0.01	.	16.3263	0.82983	0.0:1.0:0.0:0.0	.	2524	O15230	LAMA5_HUMAN	T	2524	ENSP00000252999:A2524T	ENSP00000252999:A2524T	A	-	1	0	LAMA5	60325416	1.000000	0.71417	0.931000	0.37212	0.110000	0.19582	6.338000	0.72963	1.929000	0.55896	0.282000	0.19409	GCC	LAMA5	-	NULL	ENSG00000130702		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	92	0	C	NM_005560		60892021	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	16.25	67	13	SNP	1.000	T	T	60892021	C	T	60892021	3	4	87	1	0	0	0	0	1	0	0	0	8637	768	27	1	3617	1	LAMA5	20	60892021	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4801231	60892021	2133499	1904	25028											
LAMA5	3911	genome.wustl.edu	37	chr20	60911396	60911396	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactccagggcacactcacGggtacagccctcggggttgc	8	7	12	14	2	1	0	1	0	0	0	3	0	2	0	2	4	4	3	2	4	2	3	rs201613863		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:60911396G>A	ENST00000252999.3	-	18	2389	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	775	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCACACTCACGGGTACAGCCC	0.632																																																	0													44	49	47					20																	60911396		2203	4299	6502	SO:0001630	splice_region_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2323+1C>T	20.37:g.60911396G>A			Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R775C	ENST00000252999.3	37	c.2323	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482795	0.63962	.	.	ENSG00000130702	ENST00000252999	T	0.64260	-0.09	4.76	3.74	0.42951	EGF-like, laminin (2);	0.423929	0.27210	N	0.020405	T	0.65780	0.2724	M	0.80332	2.49	0.80722	D	1	D	0.69078	0.997	P	0.47299	0.543	T	0.70174	-0.4944	9	.	.	.	.	9.7948	0.40728	0.0:0.0:0.5372:0.4628	.	775	O15230	LAMA5_HUMAN	C	775	ENSP00000252999:R775C	.	R	-	1	0	LAMA5	60344791	0.819000	0.29175	1.000000	0.80357	0.487000	0.33371	1.184000	0.32053	2.187000	0.69744	0.462000	0.41574	CGC	LAMA5	-	smart_EG-like_dom	ENSG00000130702		0.632	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	72	0	G	NM_005560	Missense_Mutation	60911396	-1	tier1	rs201613863	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	33.80	47	24	SNP	0.999	A	A	60911396	G	A	60911396	5	1	87	1	0	0	0	0	0	0	1	0	8637	1130	39	1	9016	1	LAMA5	20	60911396	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	19375	60911396	2114124	1905	25029											
COL9A3	1299	genome.wustl.edu	37	chr20	61468612	61468612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctgggagaccccgggcCcagaggtgagtgtttgaccc	7	6	17	11	1	0	4	0	2	0	2	0	6	0	5	4	4	1	2	4	4	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:61468612C>A	ENST00000343916.3	+	30	1784	c.1781C>A	c.(1780-1782)cCc>cAc	p.P594H	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	594	Triple-helical region 2 (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GACCCCGGGCCCAGAGGTGAG	0.657																																																	0													16	22	20					20																	61468612		2197	4290	6487	SO:0001583	missense	0			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2219	protein-coding gene	gene with protein product	"collagen type IX proteoglycan"	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1781C>A	20.37:g.61468612C>A	ENSP00000341640:p.Pro594His		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	pfam_Collagen	p.P594H	ENST00000343916.3	37	c.1781	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637846	0.87760	.	.	ENSG00000092758	ENST00000343916	D	0.96967	-4.19	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.98055	0.9359	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98364	1.0550	10	0.15066	T	0.55	.	17.843	0.88720	0.0:1.0:0.0:0.0	.	97;594	Q9BT15;Q14050	.;CO9A3_HUMAN	H	594	ENSP00000341640:P594H	ENSP00000341640:P594H	P	+	2	0	COL9A3	60939057	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.632000	0.67819	2.211000	0.71520	0.561000	0.74099	CCC	COL9A3	-	pfam_Collagen	ENSG00000092758		0.657	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	-	0	155	0	C	NM_001853		61468612	1	tier1	-	no_errors	ENST00000343916	ensembl	human	known	74_37	missense	29.79	99	42	SNP	1.000	A	A	61468612	C	A	61468612	3	1	87	1	0	0	0	0	1	0	0	0	3716	623	22	3	1899	3	COL9A3	20	61468612	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	557216	61468612	1556908	1906	25030											
PRIC285	85441	genome.wustl.edu	37	chr20	62194213	62194213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaggcggcctccaggcGgaaggcgccctgcagctgcc	7	3	17	14	3	0	0	0	0	0	0	1	3	1	2	4	6	3	2	4	6	2	0	rs200554251	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:62194213G>A	ENST00000467148.1	-	8	6031	c.5962C>T	c.(5962-5964)Cgc>Tgc	p.R1988C	HELZ2_ENST00000427522.2_Missense_Mutation_p.R1419C	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1988					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCTCCAGGCGGAAGGCGCCC	0.677																																																	0													12	14	13					20																	62194213		2162	4243	6405	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5962C>T	20.37:g.62194213G>A	ENSP00000417401:p.Arg1988Cys		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1988C	ENST00000467148.1	37	c.5962	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	6.077	0.382462	0.11524	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.79352	-1.26;-1.16	4.58	-8.2	0.01045	.	2.110390	0.01242	N	0.008638	T	0.43033	0.1229	N	0.00677	-1.265	0.24112	N	0.995831	B;B	0.14438	0.01;0.0	B;B	0.08055	0.003;0.001	T	0.48937	-0.8990	10	0.37606	T	0.19	-9.288	5.8637	0.18762	0.2785:0.0:0.4331:0.2884	.	1988;1419	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	C	1419;1988	ENSP00000393257:R1419C;ENSP00000417401:R1988C	ENSP00000393257:R1419C	R	-	1	0	RP4-697K14.7	61664657	0.000000	0.05858	0.033000	0.17914	0.020000	0.10135	-1.021000	0.03615	-1.791000	0.01261	-0.424000	0.05967	CGC	HELZ2	-	NULL	ENSG00000130589		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	34	0	G	NM_001037335		62194213	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.003	A	A	62194213	G	A	62194213	3	1	87	1	0	0	0	0	1	0	0	0	12527	1116	39	1	2035	1	PRIC285	20	62194213	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	725601	62194213	831307	1907	25031											
MYT1	4661	genome.wustl.edu	37	chr20	62871697	62871697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatatgcgaacagaatttcGatgcctatgtgagcaccctc	12	10	8	11	2	0	2	0	1	0	1	2	4	0	2	2	0	4	1	2	0	5	3	rs372584255		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr20:62871697G>A	ENST00000328439.1	+	23	3626	c.3262G>A	c.(3262-3264)Gat>Aat	p.D1088N	MYT1_ENST00000536311.1_Missense_Mutation_p.D1115N	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACAGAATTTCGATGCCTATGT	0.567																																					GBM(59;481 1041 20555 21139 33705)												0								G	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	148	122	131		3262	5.4	0.9	20		131	0,8600		0,0,4300	no	missense	MYT1	NM_004535.2	23	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1088/1122	62871697	1,13005	2203	4300	6503	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"Zinc fingers, C2HC-type containing"	7622	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 2"	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.3262G>A	20.37:g.62871697G>A	ENSP00000327465:p.Asp1088Asn		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D1115N	ENST00000328439.1	37	c.3343	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175750	0.78564	2.27E-4	0.0	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.59364	0.27;0.29	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.70275	2.135	0.80722	D	1	D;D	0.60160	0.987;0.985	P;P	0.53450	0.726;0.595	T	0.74535	-0.3633	10	0.87932	D	0	-29.1787	19.5679	0.95403	0.0:0.0:1.0:0.0	.	1115;1088	F5H7M8;Q01538	.;MYT1_HUMAN	N	1088;1115	ENSP00000327465:D1088N;ENSP00000442412:D1115N	ENSP00000327465:D1088N	D	+	1	0	MYT1	62342141	1.000000	0.71417	0.938000	0.37757	0.913000	0.54294	9.725000	0.98778	2.702000	0.92279	0.655000	0.94253	GAT	MYT1	-	NULL	ENSG00000196132		0.567	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1		0	39	0	G	NM_004535		62871697	1			no_errors	ENST00000536311	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	A	A	62871697	G	A	62871697	3	1	87	1	0	0	0	0	1	0	0	0	10144	1058	37	1	3344	1	MYT1	20	62871697	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	677484	62871697	153823	1908	25032											
APP	351	genome.wustl.edu	37	chr21	27264106	27264106	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtgatgacgatcactgtCgctatgacaacaccgcccac	12	7	9	13	3	1	3	1	3	0	0	2	4	1	3	2	1	1	1	2	1	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:27264106C>T	ENST00000346798.3	-	17	2172	c.2139G>A	c.(2137-2139)gcG>gcA	p.A713A	APP_ENST00000440126.3_Silent_p.A689A|APP_ENST00000439274.2_Silent_p.A657A|APP_ENST00000348990.5_Silent_p.A638A|APP_ENST00000358918.3_Silent_p.A695A|APP_ENST00000448388.2_Silent_p.A603A|APP_ENST00000354192.3_Silent_p.A582A|APP_ENST00000359726.3_Silent_p.A657A|APP_ENST00000357903.3_Silent_p.A694A	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	713		Cleavage; by gamma-secretase; site 2.	A -> T (in AD1). {ECO:0000269|PubMed:1303275, ECO:0000269|PubMed:15365148}.|A -> V (in one chronic schizophrenia patient; unknown pathological significance; dbSNP:rs1800557). {ECO:0000269|PubMed:1307241}.		adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CGATCACTGTCGCTATGACAA	0.423																																																	0													161	126	138					21																	27264106		2203	4300	6503	SO:0001819	synonymous_variant	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.2139G>A	21.37:g.27264106C>T			B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Silent	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.A713	ENST00000346798.3	37	c.2139	CCDS13576.1	21																																																																																			APP	-	pfam_Amyloid_glyco_Abeta,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta	ENSG00000142192		0.423	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0	62	0	C	NM_000484		27264106	-1	tier1	-	no_errors	ENST00000346798	ensembl	human	known	74_37	silent	30.65	43	19	SNP	0.996	T	T	27264106	C	T	27264106	2	4	87	1	0	0	0	0	0	0	0	1	815	871	31	1		1	APP	21	27264106	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09		27264106	20865789	1909	25033											
APP	351	genome.wustl.edu	37	chr21	27269931	27269931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtcatgtcggaattctGcatccatcttcacttcagag	9	13	8	11	1	5	2	3	1	2	1	7	3	6	3	1	1	1	1	1	1	1	3	rs193922916		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:27269931G>A	ENST00000346798.3	-	16	2051	c.2018C>T	c.(2017-2019)gCa>gTa	p.A673V	APP_ENST00000440126.3_Missense_Mutation_p.A649V|APP_ENST00000439274.2_Missense_Mutation_p.A617V|APP_ENST00000348990.5_Missense_Mutation_p.A598V|APP_ENST00000358918.3_Missense_Mutation_p.A655V|APP_ENST00000448388.2_Missense_Mutation_p.A563V|APP_ENST00000354192.3_Missense_Mutation_p.A542V|APP_ENST00000359726.3_Missense_Mutation_p.A617V|APP_ENST00000357903.3_Missense_Mutation_p.A654V	NM_000484.3	NP_000475.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	673		Cleavage; by caspase-6; when associated with variant 670-N-L-671.			adult locomotory behavior (GO:0008344)|axon cargo transport (GO:0008088)|axon midline choice point recognition (GO:0016199)|axonogenesis (GO:0007409)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|collateral sprouting in absence of injury (GO:0048669)|dendrite development (GO:0016358)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|ionotropic glutamate receptor signaling pathway (GO:0035235)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|mRNA polyadenylation (GO:0006378)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron differentiation (GO:0045665)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of multicellular organism growth (GO:0040014)|regulation of protein binding (GO:0043393)|regulation of synapse structure and activity (GO:0050803)|regulation of translation (GO:0006417)|response to oxidative stress (GO:0006979)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|suckling behavior (GO:0001967)|synaptic growth at neuromuscular junction (GO:0051124)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|ciliary rootlet (GO:0035253)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endosome (GO:0005768)|ER to Golgi transport vesicle (GO:0030134)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|receptor complex (GO:0043235)|spindle midzone (GO:0051233)|synapse (GO:0045202)	acetylcholine receptor binding (GO:0033130)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|peptidase activator activity (GO:0016504)|PTB domain binding (GO:0051425)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TCGGAATTCTGCATCCATCTT	0.363																																																	0													194	184	187					21																	27269931		2203	4300	6503	SO:0001583	missense	0			M15533	CCDS13576.1, CCDS13577.1, CCDS33523.1, CCDS46638.1, CCDS46639.1, CCDS56211.1, CCDS56212.1, CCDS56213.1	21q21.2	2014-01-30	2008-07-31		ENSG00000142192	ENSG00000142192		"Endogenous ligands"	620	protein-coding gene	gene with protein product	"peptidase nexin-II"	104760	"Alzheimer disease"	AD1		1679289	Standard	NM_001136130		Approved		uc002ylz.3	P05067	OTTHUMG00000078438	ENST00000346798.3:c.2018C>T	21.37:g.27269931G>A	ENSP00000284981:p.Ala673Val		B2R5V1|B4DII8|D3DSD1|D3DSD2|D3DSD3|P09000|P78438|Q13764|Q13778|Q13793|Q16011|Q16014|Q16019|Q16020|Q6GSC0|Q8WZ99|Q9BT38|Q9UC33|Q9UCA9|Q9UCB6|Q9UCC8|Q9UCD1|Q9UQ58	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.A673V	ENST00000346798.3	37	c.2018	CCDS13576.1	21	.	.	.	.	.	.	.	.	.	.	G	17.09	3.300452	0.60195	.	.	ENSG00000142192	ENST00000346798;ENST00000354192;ENST00000348990;ENST00000357903;ENST00000358918;ENST00000359726;ENST00000448388;ENST00000440126;ENST00000439274;ENST00000456209	D;D;D;D;D;D;D;D;D;D	0.96136	-1.97;-3.92;-3.92;-1.98;-1.8;-3.92;-3.92;-1.98;-1.97;-2.97	5.5	5.5	0.81552	Amyloidogenic glycoprotein, amyloid-beta peptide (1);	0.159480	0.56097	D	0.000025	D	0.91815	0.7410	L	0.29908	0.895	0.47009	D	0.999281	P;P;P;P;P;P;P	0.42357	0.777;0.485;0.608;0.749;0.728;0.59;0.656	B;B;B;B;B;B;B	0.42555	0.297;0.256;0.055;0.341;0.117;0.117;0.391	D	0.89448	0.3728	10	0.05833	T	0.94	-19.7995	19.1816	0.93625	0.0:0.0:1.0:0.0	.	563;617;649;542;598;654;673	E9PEV0;E9PG40;B4DII8;P05067-10;P05067-4;P05067-8;P05067	.;.;.;.;.;.;A4_HUMAN	V	673;542;598;654;655;617;563;649;617;242	ENSP00000284981:A673V;ENSP00000346129:A542V;ENSP00000345463:A598V;ENSP00000350578:A654V;ENSP00000351796:A655V;ENSP00000352760:A617V;ENSP00000388538:A563V;ENSP00000387483:A649V;ENSP00000398879:A617V;ENSP00000397795:A242V	ENSP00000284981:A673V	A	-	2	0	APP	26191802	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	6.456000	0.73501	2.864000	0.98301	0.551000	0.68910	GCA	APP	-	NULL	ENSG00000142192		0.363	APP-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APP	HGNC	protein_coding	OTTHUMT00000171340.1	-	0	72	0	G	NM_000484		27269931	-1	tier1	rs193922916	no_errors	ENST00000346798	ensembl	human	known	74_37	missense	10.00	54	6	SNP	0.997	A	A	27269931	G	A	27269931	3	1	87	1	0	0	0	0	1	0	0	0	815	1319	46	3	306	3	APP	21	27269931	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	5825	27269931	20859964	1910	25034											
RNF160	26046	genome.wustl.edu	37	chr21	30338185	30338185	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaaaaaatccctaagatAccttttcaataatcttaaga	20	11	3	7	0	2	2	1	0	1	2	3	3	3	2	2	0	1	0	2	0	9	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:30338185A>G	ENST00000361371.5	-	11	2243		c.e11+1		LTN1_ENST00000389194.2_Splice_Site|LTN1_ENST00000389195.2_Splice_Site			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1						protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCCCTAAGATACCTTTTCAAT	0.284																																																	0													16	17	16					21																	30338185		2163	4258	6421	SO:0001630	splice_region_variant	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.2163+1T>C	21.37:g.30338185A>G			A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Splice_Site	SNP	-	e11+2	ENST00000361371.5	37	c.2301+2		21	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464019	0.63513	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000389195	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8321	0.63386	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LTN1	29260056	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	7.148000	0.77389	1.994000	0.58287	0.374000	0.22700	.	LTN1	-	-	ENSG00000198862		0.284	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	-	0	206	0	A	NM_015565	Intron	30338185	-1	tier1	-	no_errors	ENST00000389194	ensembl	human	known	74_37	splice_site	7.77	190	16	SNP	1.000	G	G	30338185	A	G	30338185	5	3	87	1	0	0	0	0	0	0	1	0	13500	405	14	4	3215	4	RNF160	21	30338185	Splice_Site	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	3068254	30338185	17791710	1911	25035											
RNF160	26046	genome.wustl.edu	37	chr21	30357050	30357050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaatgctatggcttcaGgttgcttgcttggaggaaaa	12	12	11	6	0	1	0	1	0	0	0	1	2	1	2	0	4	4	5	0	4	6	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:30357050G>T	ENST00000361371.5	-	4	618	c.539C>A	c.(538-540)cCt>cAt	p.P180H	LTN1_ENST00000389194.2_Missense_Mutation_p.P226H|LTN1_ENST00000389195.2_Missense_Mutation_p.P226H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	180					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATGGCTTCAGGTTGCTTGCT	0.363																																																	0													95	90	92					21																	30357050		2203	4300	6503	SO:0001583	missense	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"RING-type (C3HC4) zinc fingers"	13082	protein-coding gene	gene with protein product	"listerin"	613083	"chromosome 21 open reading frame 98", "zinc finger protein 294", "ring finger protein 160"	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.539C>A	21.37:g.30357050G>T	ENSP00000354977:p.Pro180His		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.P226H	ENST00000361371.5	37	c.677		21	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657998	0.88154	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.68903	2.24;2.24;-0.36	5.14	5.14	0.70334	Armadillo-like helical (1);Armadillo-type fold (1);	0.131866	0.51477	D	0.000082	T	0.71626	0.3362	L	0.28274	0.84	0.58432	D	0.999999	D	0.76494	0.999	D	0.63488	0.915	T	0.72054	-0.4406	10	0.44086	T	0.13	.	18.8049	0.92032	0.0:0.0:1.0:0.0	.	180	O94822	LTN1_HUMAN	H	226;180;182;226	ENSP00000373846:P226H;ENSP00000354977:P180H;ENSP00000373847:P226H	ENSP00000354977:P180H	P	-	2	0	LTN1	29278921	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.263000	0.95617	2.690000	0.91761	0.460000	0.39030	CCT	LTN1	-	superfamily_ARM-type_fold	ENSG00000198862		0.363	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1		0	32	0	G	NM_015565		30357050	-1			no_errors	ENST00000389194	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.997	T	T	30357050	G	T	30357050	3	4	87	1	0	0	0	0	1	0	0	0	13500	1000	35	3	4869	3	RNF160	21	30357050	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	18865	30357050	17772845	1912	25036											
SOD1	6647	genome.wustl.edu	37	chr21	33040846	33040846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtacaaagacaggaaaCgctggaagtcgtttggcttg	14	8	13	6	2	0	1	0	0	0	1	1	4	0	3	0	3	2	4	0	3	5	3	rs1804449		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:33040846C>T	ENST00000270142.6	+	5	568	c.420C>T	c.(418-420)aaC>aaT	p.N140N	SOD1_ENST00000470944.1_3'UTR|AP000254.8_ENST00000609934.1_RNA|SOD1_ENST00000389995.4_Silent_p.N121N	NM_000454.4	NP_000445.1	P00441	SODC_HUMAN	superoxide dismutase 1, soluble	140			N -> K (in ALS1).		activation of MAPK activity (GO:0000187)|anterograde axon cargo transport (GO:0008089)|auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryo implantation (GO:0007566)|glutathione metabolic process (GO:0006749)|heart contraction (GO:0060047)|hydrogen peroxide biosynthetic process (GO:0050665)|locomotory behavior (GO:0007626)|muscle cell cellular homeostasis (GO:0046716)|myeloid cell homeostasis (GO:0002262)|negative regulation of cholesterol biosynthetic process (GO:0045541)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament cytoskeleton organization (GO:0060052)|ovarian follicle development (GO:0001541)|peripheral nervous system myelin maintenance (GO:0032287)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cytokine production (GO:0001819)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of superoxide anion generation (GO:0032930)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of multicellular organism growth (GO:0040014)|regulation of organ growth (GO:0046620)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of T cell differentiation in thymus (GO:0033081)|relaxation of vascular smooth muscle (GO:0060087)|removal of superoxide radicals (GO:0019430)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to hydrogen peroxide (GO:0042542)|response to nutrient levels (GO:0031667)|response to organic substance (GO:0010033)|response to superoxide (GO:0000303)|retina homeostasis (GO:0001895)|retrograde axon cargo transport (GO:0008090)|sensory perception of sound (GO:0007605)|spermatogenesis (GO:0007283)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|thymus development (GO:0048538)|transmission of nerve impulse (GO:0019226)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|peroxisome (GO:0005777)|protein complex (GO:0043234)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein phosphatase 2B binding (GO:0030346)|Rac GTPase binding (GO:0048365)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(1)	4					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AGACAGGAAACGCTGGAAGTC	0.423													C|||	1	0.000199681	0	0	5008	,	,		16469	0		0	False		,,,				2504	0.001																0			GRCh37	CM951186	SOD1	M	rs1804449						136	137	137					21																	33040846		2203	4300	6503	SO:0001819	synonymous_variant	0			AY049787, X02317	CCDS33536.1	21q22.11	2014-09-17	2008-07-31		ENSG00000142168	ENSG00000142168	1.15.1.1		11179	protein-coding gene	gene with protein product		147450	"amyotrophic lateral sclerosis 1 (adult)"	ALS, ALS1		8446170	Standard	NM_000454		Approved	IPOA	uc002ypa.3	P00441	OTTHUMG00000084878	ENST00000270142.6:c.420C>T	21.37:g.33040846C>T			A6NHJ0|D3DSE4|Q16669|Q16711|Q16838|Q16839|Q16840|Q6NR85	Silent	SNP	pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom	p.N140	ENST00000270142.6	37	c.420	CCDS33536.1	21																																																																																			SOD1	-	pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom,prints_SOD_Cu_Zn_dom	ENSG00000142168		0.423	SOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOD1	HGNC	protein_coding	OTTHUMT00000192585.2	-	0	35	0	C	NM_000454		33040846	1	tier1	rs1804449	no_errors	ENST00000270142	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.997	T	T	33040846	C	T	33040846	2	4	87	1	0	0	0	0	0	0	0	1	14965	535	19	1		1	SOD1	21	33040846	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2683796	33040846	15089049	1913	25037											
DOPEY2	9980	genome.wustl.edu	37	chr21	37618129	37618129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccaacctcctcgctcGccaccaggaggccctcattg	7	8	7	19	2	2	0	1	0	1	0	6	1	3	1	6	2	1	1	6	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:37618129G>A	ENST00000399151.3	+	19	3936	c.3851G>A	c.(3850-3852)cGc>cAc	p.R1284H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1284					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCTCGCTCGCCACCAGGAG	0.587																																																	0													64	66	65					21																	37618129		2203	4300	6503	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.3851G>A	21.37:g.37618129G>A	ENSP00000382104:p.Arg1284His		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.R1284H	ENST00000399151.3	37	c.3851	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592301	0.86953	.	.	ENSG00000142197	ENST00000399151	T	0.51325	0.71	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.72795	0.3505	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79072	-0.1953	10	0.87932	D	0	-15.3905	17.8467	0.88732	0.0:0.0:1.0:0.0	.	1284;1284	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	1284	ENSP00000382104:R1284H	ENSP00000382104:R1284H	R	+	2	0	DOPEY2	36539999	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	9.222000	0.95196	2.295000	0.77249	0.655000	0.94253	CGC	DOPEY2	-	NULL	ENSG00000142197		0.587	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	-	0	41	0	G	NM_005128		37618129	1	tier1	-	no_errors	ENST00000399151	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	A	A	37618129	G	A	37618129	3	1	87	1	0	0	0	0	1	0	0	0	4722	1087	38	1	3921	1	DOPEY2	21	37618129	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4577283	37618129	10511766	1914	25038											
DOPEY2	9980	genome.wustl.edu	37	chr21	37661367	37661367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaacaaagtaaacagaacGaaagtttcagtcccggatgc	17	6	8	10	2	1	1	1	0	0	1	2	3	2	2	2	1	4	2	2	1	6	2	rs148971960		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:37661367G>A	ENST00000399151.3	+	35	6463	c.6378G>A	c.(6376-6378)acG>acA	p.T2126T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2126					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAAACAGAACGAAAGTTTCAG	0.418																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	99	99	99		6378	-11	0	21	dbSNP_134	99	0,8600		0,0,4300	no	coding-synonymous	DOPEY2	NM_005128.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2126/2299	37661367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6378G>A	21.37:g.37661367G>A			D3DSG5|Q6PJQ7|Q9UEZ3	Silent	SNP	pfam_Dopey_N	p.T2126	ENST00000399151.3	37	c.6378	CCDS13643.1	21																																																																																			DOPEY2	-	NULL	ENSG00000142197		0.418	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	-	0	42	0	G	NM_005128		37661367	1	tier1	rs148971960	no_errors	ENST00000399151	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.000	A	A	37661367	G	A	37661367	2	1	87	1	0	0	0	0	0	0	0	1	4722	1045	37	1		1	DOPEY2	21	37661367	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	43238	37661367	10468528	1915	25039											
PIGP	51227	genome.wustl.edu	37	chr21	38439662	38439662	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaataaggaggtagacaggTaatgcaactgcccaatatct	15	8	10	8	0	1	1	0	0	1	1	1	2	1	2	1	3	3	4	1	3	7	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:38439662T>C	ENST00000464265.1	-	3	469	c.246A>G	c.(244-246)ttA>ttG	p.L82L	PIGP_ENST00000399102.1_Silent_p.L58L|PIGP_ENST00000360525.4_Silent_p.L58L|PIGP_ENST00000399103.1_Silent_p.L58L|PIGP_ENST00000329667.3_5'UTR|PIGP_ENST00000399098.1_Silent_p.L32L	NM_153681.2	NP_710148.1	P57054	PIGP_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class P	82					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			kidney(1)|urinary_tract(1)	2		Myeloproliferative disorder(46;0.0412)				GGTAGACAGGTAATGCAACTG	0.388																																																	0													208	198	201					21																	38439662		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037162	CCDS13649.1, CCDS13650.1	21q22.2	2013-02-26	2006-06-28	2005-11-10	ENSG00000185808	ENSG00000185808	2.4.1.198	"Phosphatidylinositol glycan anchor biosynthesis"	3046	protein-coding gene	gene with protein product	"phosphatidylinositol-n-acetylglucosaminyltranferase subunit"	605938	"Down syndrome critical region gene 5", "phosphatidylinositol glycan, class P"	DSCR5		10814524, 15221505	Standard	NR_028352		Approved	DCRC, DSRC	uc002yvw.1	P57054	OTTHUMG00000086653	ENST00000464265.1:c.246A>G	21.37:g.38439662T>C			B2RB18|B2RE99|B5BU92|D3DSG7|J3KR75|Q53Y28|Q96KI1|Q9NZA6	Silent	SNP	pfam_PIG-P,pirsf_PIG-P_GPI19	p.L82	ENST00000464265.1	37	c.246	CCDS13649.1	21																																																																																			PIGP	-	pfam_PIG-P,pirsf_PIG-P_GPI19	ENSG00000185808		0.388	PIGP-004	KNOWN	basic|CCDS	protein_coding	PIGP	HGNC	protein_coding	OTTHUMT00000194769.2	-	0	66	0	T	NM_153681		38439662	-1	tier1	-	no_errors	ENST00000464265	ensembl	human	known	74_37	silent	12.70	55	8	SNP	0.996	C	C	38439662	T	C	38439662	2	2	87	1	0	0	0	0	0	0	0	1	11934	1635	57	4		4	PIGP	21	38439662	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	778295	38439662	9690233	1916	25040											
BRWD1	54014	genome.wustl.edu	37	chr21	40619643	40619643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacatgtcttacagagcttGaagactcatttccagaagat	13	12	7	9	0	3	5	2	1	1	4	4	5	4	5	1	0	2	1	1	0	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:40619643G>A	ENST00000333229.2	-	21	2792	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	BRWD1_ENST00000342449.3_Missense_Mutation_p.S822L|BRWD1_ENST00000380800.3_Missense_Mutation_p.S822L	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	822	Poly-Ser.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TACAGAGCTTGAAGACTCATT	0.333																																					Melanoma(170;988 1986 4794 16843 39731)												0													87	82	84					21																	40619643		2203	4300	6503	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"WD repeat domain containing"	12760	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 107", "WD repeat domain 9"	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.2465C>T	21.37:g.40619643G>A	ENSP00000330753:p.Ser822Leu		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S822L	ENST00000333229.2	37	c.2465	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667053	0.47677	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.55930	0.49;0.51;0.59	5.44	4.32	0.51571	.	0.630652	0.14230	N	0.332827	T	0.41719	0.1171	L	0.45051	1.395	0.80722	D	1	B;B	0.13145	0.007;0.001	B;B	0.13407	0.009;0.002	T	0.43278	-0.9401	10	0.48119	T	0.1	-6.4689	5.8809	0.18854	0.1883:0.0:0.8117:0.0	.	822;822	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	L	822	ENSP00000330753:S822L;ENSP00000344333:S822L;ENSP00000370178:S822L	ENSP00000330753:S822L	S	-	2	0	BRWD1	39541513	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.533000	0.53561	2.711000	0.92665	0.591000	0.81541	TCA	BRWD1	-	NULL	ENSG00000185658		0.333	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	-	0	55	0	G	NM_033656		40619643	-1	tier1	-	no_errors	ENST00000333229	ensembl	human	known	74_37	missense	25.00	57	19	SNP	1.000	A	A	40619643	G	A	40619643	3	1	87	1	0	0	0	0	1	0	0	0	1529	1294	45	3	4824	3	BRWD1	21	40619643	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2179981	40619643	7510252	1917	25041											
WRB	7485	genome.wustl.edu	37	chr21	40762674	40762674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagtcacagatgagagcGgagatccaggacatgaagca	15	4	14	8	1	1	4	1	2	0	3	2	8	2	6	1	3	2	1	1	3	1	0	rs142448585		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:40762674G>A	ENST00000333781.5	+	2	294	c.153G>A	c.(151-153)gcG>gcA	p.A51A	WRB_ENST00000380708.1_Silent_p.A17A|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000541890.1_Silent_p.A51A|WRB_ENST00000398753.1_Silent_p.A17A	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein	51	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.A51A(1)		endometrium(3)	3		Prostate(19;1.2e-06)				AGATGAGAGCGGAGATCCAGG	0.552																																																	1	Substitution - coding silent(1)	endometrium(1)						G	,	1,4405	2.1+/-5.4	0,1,2202	149	106	121		51,153	-10.4	0	21	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WRB	NM_001146218.1,NM_004627.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	17/141,51/175	40762674	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13664.1, CCDS54485.1	21q22.3	2007-10-04			ENSG00000182093	ENSG00000182093			12790	protein-coding gene	gene with protein product		602915				9544840	Standard	NM_004627		Approved	CHD5	uc002yxs.3	O00258	OTTHUMG00000066250	ENST00000333781.5:c.153G>A	21.37:g.40762674G>A			A8KAP8|A8MQ44|D3DSH9|O60740	Silent	SNP	NULL	p.A51	ENST00000333781.5	37	c.153	CCDS13664.1	21																																																																																			WRB	-	NULL	ENSG00000182093		0.552	WRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRB	HGNC	protein_coding	OTTHUMT00000141745.3	-	0	61	0	G			40762674	1	tier1	rs142448585	no_errors	ENST00000333781	ensembl	human	known	74_37	silent	31.91	32	15	SNP	0.001	A	A	40762674	G	A	40762674	2	1	87	1	0	0	0	0	0	0	0	1	17450	1103	39	1		1	WRB	21	40762674	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	143031	40762674	7367221	1918	25042											
SH3BGR	6450	genome.wustl.edu	37	chr21	40871812	40871812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagagggcagtgaagatgtgGgcaacctccctgaagcccag	12	5	14	10	0	0	4	0	2	0	2	1	4	1	4	3	2	2	2	3	2	4	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:40871812G>T	ENST00000333634.4	+	4	643	c.565G>T	c.(565-567)Ggc>Tgc	p.G189C	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Missense_Mutation_p.G78C|SH3BGR_ENST00000380634.1_Missense_Mutation_p.G78C|SH3BGR_ENST00000380631.1_Missense_Mutation_p.G78C	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	189	Glu-rich (acidic).				positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TGAAGATGTGGGCAACCTCCC	0.468																																																	0													125	115	118					21																	40871812		2203	4300	6503	SO:0001583	missense	0				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"21-glutamic acid-rich protein"	602230	"SH3 domain binding glutamic acid-rich protein"			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.565G>T	21.37:g.40871812G>T	ENSP00000332513:p.Gly189Cys		A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.G189C	ENST00000333634.4	37	c.565	CCDS13666.1	21	.	.	.	.	.	.	.	.	.	.	.	1.036	-0.680447	0.03353	.	.	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000440288;ENST00000380631;ENST00000333634;ENST00000423596;ENST00000447939	T;T;T;T;T;T;T	0.77620	0.87;0.87;0.83;0.87;1.83;-0.55;-1.11	4.96	3.14	0.36123	.	0.553031	0.20565	N	0.089825	T	0.75961	0.3921	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.63957	0.92	T	0.65335	-0.6193	10	0.72032	D	0.01	.	7.89	0.29672	0.195:0.0:0.805:0.0	.	189	P55822	SH3BG_HUMAN	C	78;78;78;78;189;31;22	ENSP00000370011:G78C;ENSP00000370008:G78C;ENSP00000401572:G78C;ENSP00000370005:G78C;ENSP00000332513:G189C;ENSP00000413981:G31C;ENSP00000403115:G22C	ENSP00000332513:G189C	G	+	1	0	SH3BGR	39793682	0.036000	0.19791	0.023000	0.16930	0.037000	0.13140	1.661000	0.37408	0.767000	0.33267	0.549000	0.68633	GGC	SH3BGR	-	NULL	ENSG00000185437		0.468	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGR	HGNC	protein_coding	OTTHUMT00000157377.6	-	0	90	0	G	NM_007341		40871812	1	tier1	-	no_errors	ENST00000333634	ensembl	human	known	74_37	missense	14.29	65	11	SNP	0.051	T	T	40871812	G	T	40871812	3	4	87	1	0	0	0	0	1	0	0	0	14285	1232	43	3	579	3	SH3BGR	21	40871812	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	109138	40871812	7258083	1919	25043											
MX2	4600	genome.wustl.edu	37	chr21	42749721	42749721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccttctccaggggccCgagaacaacctgtacagcca	9	8	9	15	1	2	1	0	0	2	1	3	2	2	1	5	2	5	1	5	2	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:42749721C>T	ENST00000330714.3	+	3	439	c.255C>T	c.(253-255)ccC>ccT	p.P85P	MX2_ENST00000543692.1_Silent_p.P85P	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	85					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCAGGGGCCCGAGAACAACC	0.597																																																	0													68	64	65					21																	42749721		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"interferon-regulated resistance GTP-binding protein MXB", "second interferon-induced protein p78"	147890	"myxovirus (influenza) resistance 2, homolog of murine", "myxovirus (influenza virus) resistance 2 (mouse)"			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.255C>T	21.37:g.42749721C>T			B7Z5D3|D3DSI7	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF	p.P85	ENST00000330714.3	37	c.255	CCDS13672.1	21																																																																																			MX2	-	NULL	ENSG00000183486		0.597	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MX2	HGNC	protein_coding	OTTHUMT00000195147.1	-	0	57	0	C	NM_002463		42749721	1	tier1	-	no_errors	ENST00000330714	ensembl	human	known	74_37	silent	20.00	28	7	SNP	0.000	T	T	42749721	C	T	42749721	2	4	87	1	0	0	0	0	0	0	0	1	10036	639	23	1		1	MX2	21	42749721	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1877909	42749721	5380174	1920	25044											
PDE9A	5152	genome.wustl.edu	37	chr21	44190872	44190872	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatcccgagatcgctaCgaggagctgaagcggataga	12	6	15	8	4	0	3	0	1	0	2	2	8	1	6	1	3	3	2	1	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44190872C>T	ENST00000291539.6	+	18	1710	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y	PDE9A_ENST00000398225.3_Silent_p.Y509Y|PDE9A_ENST00000398232.3_Silent_p.Y483Y|PDE9A_ENST00000398227.3_Silent_p.Y390Y|PDE9A_ENST00000328862.6_Silent_p.Y524Y|PDE9A_ENST00000539837.1_Silent_p.Y422Y|PDE9A_ENST00000398224.3_Silent_p.Y423Y|PDE9A_ENST00000398229.3_Silent_p.Y416Y|PDE9A_ENST00000398236.3_Silent_p.Y464Y|PDE9A_ENST00000335440.6_Silent_p.Y448Y|PDE9A_ENST00000335512.4_Silent_p.Y490Y|PDE9A_ENST00000380328.2_Silent_p.Y497Y|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398234.3_Silent_p.Y449Y|PDE9A_ENST00000349112.3_Silent_p.Y422Y	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	550	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAGATCGCTACGAGGAGCTGA	0.552																																																	0													143	114	124					21																	44190872		2203	4300	6503	SO:0001819	synonymous_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"Phosphodiesterases"	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1650C>T	21.37:g.44190872C>T			B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.Y550	ENST00000291539.6	37	c.1650	CCDS13690.1	21																																																																																			PDE9A	-	NULL	ENSG00000160191		0.552	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	-	0	24	0	C			44190872	1	tier1	-	no_errors	ENST00000291539	ensembl	human	known	74_37	silent	38.10	13	8	SNP	1.000	T	T	44190872	C	T	44190872	2	4	87	1	0	0	0	0	0	0	0	1	11694	547	19	1		1	PDE9A	21	44190872	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1441151	44190872	3939023	1921	25045											
WDR4	10785	genome.wustl.edu	37	chr21	44275838	44275838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagactggccaggtgaCagcagtgcagctggcggccg	7	5	16	13	2	0	2	0	1	0	1	0	2	0	2	3	4	4	4	3	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44275838C>T	ENST00000398208.2	-	7	739	c.680G>A	c.(679-681)tGt>tAt	p.C227Y	WDR4_ENST00000330317.2_Missense_Mutation_p.C227Y|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGCCAGGTGACAGCAGTGCAG	0.627																																																	0													13	14	14					21																	44275838		2166	4232	6398	SO:0001583	missense	0			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"WD repeat domain containing"	12756	protein-coding gene	gene with protein product	"TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.680G>A	21.37:g.44275838C>T	ENSP00000381266:p.Cys227Tyr			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C227Y	ENST00000398208.2	37	c.680	CCDS13691.1	21	.	.	.	.	.	.	.	.	.	.	C	5.436	0.265569	0.10294	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.27557	1.66;1.66	4.04	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.064498	0.64402	D	0.000002	T	0.26484	0.0647	M	0.64997	1.995	0.42695	D	0.993598	B;B	0.23806	0.091;0.03	B;B	0.19666	0.026;0.011	T	0.06197	-1.0840	10	0.17369	T	0.5	-17.0671	8.1113	0.30916	0.0:0.8857:0.0:0.1143	.	227;227	P57081-2;P57081	.;WDR4_HUMAN	Y	227	ENSP00000328671:C227Y;ENSP00000381266:C227Y	ENSP00000328671:C227Y	C	-	2	0	WDR4	43148907	1.000000	0.71417	0.991000	0.47740	0.592000	0.36648	1.561000	0.36342	1.969000	0.57287	0.411000	0.27672	TGT	WDR4	-	superfamily_WD40_repeat_dom	ENSG00000160193		0.627	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	-	0	108	0	C			44275838	-1	tier1	-	no_errors	ENST00000330317	ensembl	human	known	74_37	missense	12.50	70	10	SNP	1.000	T	T	44275838	C	T	44275838	3	4	87	1	0	0	0	0	1	0	0	0	17342	478	17	3	578	3	WDR4	21	44275838	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	84966	44275838	3854057	1922	25046											
PKNOX1	5316	genome.wustl.edu	37	chr21	44433177	44433177	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattttctctgctctaGatggtaaaagcaatccaggt	10	15	7	9	0	4	1	1	0	3	1	6	1	5	1	1	2	2	3	1	2	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44433177G>T	ENST00000291547.5	+	5	562		c.e5-1		PKNOX1_ENST00000432907.2_Splice_Site	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1						angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCTGCTCTAGATGGTAAAAG	0.383																																																	0													120	119	120					21																	44433177		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.352-1G>T	21.37:g.44433177G>T			O00528|Q8IWT7	Splice_Site	SNP	-	e4-1	ENST00000291547.5	37	c.352-1	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015699	0.75161	.	.	ENSG00000160199	ENST00000291547	.	.	.	5.58	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5235	0.67870	0.0705:0.0:0.9295:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKNOX1	43306246	1.000000	0.71417	0.999000	0.59377	0.913000	0.54294	9.347000	0.97059	1.375000	0.46248	0.561000	0.74099	.	PKNOX1	-	-	ENSG00000160199		0.383	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3		0	61	0	G		Intron	44433177	1			no_errors	ENST00000291547	ensembl	human	known	74_37	splice_site	6.06	62	4	SNP	1.000	T	T	44433177	G	T	44433177	5	4	87	1	0	0	0	0	0	0	1	0	12021	956	33	3	365	3	PKNOX1	21	44433177	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	157339	44433177	3696718	1923	25047											
SIK1	150094	genome.wustl.edu	37	chr21	44837638	44837638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggtcttcctcagctgctgCcgaaaggccttcagccctgc	5	10	11	15	1	3	0	2	0	1	0	4	1	4	0	4	2	5	2	4	2	1	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:44837638C>T	ENST00000270162.6	-	13	1893	c.1761G>A	c.(1759-1761)cgG>cgA	p.R587R		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	587	RK-rich region. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|cell cycle (GO:0007049)|entrainment of circadian clock by photoperiod (GO:0043153)|intracellular signal transduction (GO:0035556)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of triglyceride biosynthetic process (GO:0010868)|positive regulation of anoikis (GO:2000210)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell differentiation (GO:0045595)|regulation of mitotic cell cycle (GO:0007346)|regulation of myotube differentiation (GO:0010830)|regulation of sodium ion transport (GO:0002028)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|cAMP response element binding protein binding (GO:0008140)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21					Dabrafenib(DB08912)	TCAGCTGCTGCCGAAAGGCCT	0.632																																																	0													29	21	24					21																	44837638		2192	4290	6482	SO:0001819	synonymous_variant	0			BC038504	CCDS33575.1	21q22.3	2008-12-23	2008-12-23	2008-12-23	ENSG00000142178	ENSG00000142178			11142	protein-coding gene	gene with protein product	"myocardial SNF1-like kinase"	605705	"SNF1-like kinase"	SNF1LK		7893599	Standard	NM_173354		Approved	msk	uc002zdf.2	P57059	OTTHUMG00000086874	ENST00000270162.6:c.1761G>A	21.37:g.44837638C>T			A6NC84|Q5R2V5|Q6ZNL8|Q86YJ2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R587	ENST00000270162.6	37	c.1761	CCDS33575.1	21																																																																																			SIK1	-	pirsf_Ser/Thr_kinase_SIK1/2	ENSG00000142178		0.632	SIK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK1	HGNC	protein_coding	OTTHUMT00000195654.1	-	0	59	0	C	NM_173354		44837638	-1	tier1	-	no_errors	ENST00000270162	ensembl	human	known	74_37	silent	8.11	68	6	SNP	0.975	T	T	44837638	C	T	44837638	2	4	87	1	0	0	0	0	0	0	0	1	14362	726	26	3		3	SIK1	21	44837638	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	404461	44837638	3292257	1924	25048											
TRAPPC10	7109	genome.wustl.edu	37	chr21	45502962	45502962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccaaaacagtttgcccGcgctggagttgtatgaaatg	11	11	10	9	2	0	1	0	1	0	0	1	2	1	2	2	1	2	4	2	1	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:45502962G>A	ENST00000291574.4	+	14	2192	c.2017G>A	c.(2017-2019)Gcg>Acg	p.A673T		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	673					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGTTTGCCCGCGCTGGAGTT	0.498																																																	0													101	102	102					21																	45502962		2203	4300	6503	SO:0001583	missense	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"Trafficking protein particle complex"	11868	protein-coding gene	gene with protein product	"trafficking protein particle complex subunit 130", "TRAPP 130 kDa subunit"	602103	"transmembrane protein 1"	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2017G>A	21.37:g.45502962G>A	ENSP00000291574:p.Ala673Thr		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.A673T	ENST00000291574.4	37	c.2017	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	1.751	-0.489235	0.04352	.	.	ENSG00000160218	ENST00000291574	T	0.23754	1.89	5.49	4.61	0.57282	.	0.218060	0.49305	N	0.000160	T	0.13841	0.0335	N	0.19112	0.55	0.09310	N	0.999995	B	0.23591	0.088	B	0.16722	0.016	T	0.25398	-1.0133	10	0.14656	T	0.56	.	8.3116	0.32075	0.2387:0.0:0.7613:0.0	.	673	P48553	TPC10_HUMAN	T	673	ENSP00000291574:A673T	ENSP00000291574:A673T	A	+	1	0	TRAPPC10	44327390	0.898000	0.30612	0.033000	0.17914	0.004000	0.04260	2.372000	0.44257	1.313000	0.45069	0.591000	0.81541	GCG	TRAPPC10	-	NULL	ENSG00000160218		0.498	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	-	0	34	0	G	NM_003274		45502962	1	tier1	-	no_errors	ENST00000291574	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.067	A	A	45502962	G	A	45502962	3	1	87	1	0	0	0	0	1	0	0	0	16505	1087	38	1	2071	1	TRAPPC10	21	45502962	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	665324	45502962	2626933	1925	25049											
KRTAP10-12	386685	genome.wustl.edu	37	chr21	46117509	46117509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggccttcttcttcatgCtgccagcagtctagctgcca	5	13	10	13	0	4	0	1	0	3	0	4	0	4	0	3	1	5	3	3	1	1	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:46117509C>T	ENST00000400365.3	+	1	423	c.393C>T	c.(391-393)tgC>tgT	p.C131C	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	131	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTTCTTCATGCTGCCAGCAGT	0.627																																																	0													139	141	140					21																	46117509		2203	4300	6503	SO:0001819	synonymous_variant	0			AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"Keratin associated proteins"	20533	protein-coding gene	gene with protein product			"keratin associated protein 18-12"	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.393C>T	21.37:g.46117509C>T			B2RPA3	Silent	SNP	NULL	p.C131	ENST00000400365.3	37	c.393	CCDS42967.1	21																																																																																			KRTAP10-12	-	NULL	ENSG00000189169		0.627	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-12	HGNC	protein_coding	OTTHUMT00000128032.1	-	0	169	0	C	NM_198699		46117509	1	tier1	-	no_errors	ENST00000400365	ensembl	human	known	74_37	silent	17.97	105	23	SNP	0.989	T	T	46117509	C	T	46117509	2	4	87	1	0	0	0	0	0	0	0	1	8535	805	28	3		3	KRTAP10-12	21	46117509	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	614547	46117509	2012386	1926	25050											
COL18A1	80781	genome.wustl.edu	37	chr21	46930024	46930024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtcaggcggcatgcgggGcatccgcggggccgacttcc	4	6	16	15	5	1	0	1	0	0	0	3	1	3	0	4	6	1	2	4	6	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:46930024G>A	ENST00000359759.4	+	39	4808	c.4787G>A	c.(4786-4788)gGc>gAc	p.G1596D	SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000468508.1_5'Flank|COL18A1_ENST00000355480.5_Missense_Mutation_p.G1361D|COL18A1_ENST00000400337.2_Missense_Mutation_p.G1181D			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1596	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCATGCGGGGCATCCGCGGG	0.731																																																	0													5	8	7					21																	46930024		1829	3984	5813	SO:0001583	missense	0				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"Collagens"	2195	protein-coding gene	gene with protein product	"endostatin"	120328	"Knobloch syndrome, type 1"	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4787G>A	21.37:g.46930024G>A	ENSP00000352798:p.Gly1596Asp		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.G1596D	ENST00000359759.4	37	c.4787		21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.25|19.25	3.790833|3.790833	0.70452|0.70452	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000423214|ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	.|T;T;T;T	.|0.57595	.|0.39;0.39;0.39;0.39	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Collagenase NC10/endostatin (1);C-type lectin fold (1);C-type lectin-like (1);	.|0.122041	.|0.56097	.|D	.|0.000035	T|T	0.73760|0.73760	0.3628|0.3628	M|M	0.87617|0.87617	2.895|2.895	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	T|T	0.77892|0.77892	-0.2418|-0.2418	5|10	.|0.59425	.|D	.|0.04	.|.	11.7744|11.7744	0.51977|0.51977	0.0:0.1782:0.8217:0.0|0.0:0.1782:0.8217:0.0	.|.	.|1596;1178;1361;1181	.|P39060;D3DSM4;P39060-1;P39060-2	.|COIA1_HUMAN;.;.;.	T|D	166|1181;1181;1361;1596;1596;529	.|ENSP00000383191:G1181D;ENSP00000347665:G1361D;ENSP00000352798:G1596D;ENSP00000339118:G529D	.|ENSP00000339118:G529D	A|G	+|+	1|2	0|0	COL18A1|COL18A1	45754452|45754452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.642000|0.642000	0.38348|0.38348	7.267000|7.267000	0.78462|0.78462	2.128000|2.128000	0.65567|0.65567	0.655000|0.655000	0.94253|0.94253	GCA|GGC	COL18A1	-	pfam_Collagenase_NC10/endostatin,superfamily_C-type_lectin_fold	ENSG00000182871		0.731	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1		0	17	0	G			46930024	1			no_errors	ENST00000359759	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	A	A	46930024	G	A	46930024	3	1	87	1	0	0	0	0	1	0	0	0	3682	1203	42	3	5050	3	COL18A1	21	46930024	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	812515	46930024	1199871	1927	25051											
SLC19A1	6573	genome.wustl.edu	37	chr21	46952005	46952005	+	Frame_Shift_Del	DEL	C	C	-																															gtagtcggtgagcaggaacaCgggcaccagcacggccaggt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:46952005delC	ENST00000311124.4	-	3	399	c.247delG	c.(247-249)gtgfs	p.V83fs	SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.V83fs|SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.V83fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.V43fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	83					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	AGCAGGAACACGGGCACCAGC	0.667																																																	0													70	60	64					21																	46952005		2203	4300	6503	SO:0001589	frameshift_variant	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"Solute carriers"	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.247delG	21.37:g.46952005delC	ENSP00000308895:p.Val83fs		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Frame_Shift_Del	DEL	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.V83fs	ENST00000311124.4	37	c.247	CCDS13725.1	21																																																																																			SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.667	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1		0	35	0	C			46952005	-1	tier1		no_errors	ENST00000311124	ensembl	human	known	74_37	frame_shift_del	19.44	29	7	DEL	0.014	-	-	46952005	C	-	46952005	7	5	87	1	0	1	0	1	0	0	0	0	14473	536	19	0	1544	0	SLC19A1	21	46952005	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	21981	46952005	1177890	1928	25052											
COL6A1	1291	genome.wustl.edu	37	chr21	47418819	47418819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcactgcagggcacgaaGggctaccccggcctcaaggg	8	4	14	15	3	2	0	2	0	0	0	2	1	2	0	4	4	2	3	4	4	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:47418819G>T	ENST00000361866.3	+	25	1734	c.1620G>T	c.(1618-1620)aaG>aaT	p.K540N		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	540	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGGGCACGAAGGGCTACCCCG	0.527																																																	0													16	15	15					21																	47418819		2110	4206	6316	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1620G>T	21.37:g.47418819G>T	ENSP00000355180:p.Lys540Asn		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.K540N	ENST00000361866.3	37	c.1620	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648769	0.47258	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93604	-3.25	4.36	1.54	0.23209	.	0.549745	0.18346	N	0.144033	D	0.88455	0.6441	L	0.41573	1.285	0.51233	D	0.999918	P	0.41748	0.761	B	0.42798	0.398	T	0.80750	-0.1243	10	0.23891	T	0.37	-13.8366	7.2482	0.26133	0.719:0.0:0.281:0.0	.	540	P12109	CO6A1_HUMAN	N	540	ENSP00000355180:K540N	ENSP00000355180:K540N	K	+	3	2	COL6A1	46243247	0.221000	0.23642	0.973000	0.42090	0.599000	0.36880	0.487000	0.22356	0.140000	0.18849	-0.657000	0.03884	AAG	COL6A1	-	pfam_Collagen	ENSG00000142156		0.527	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	119	0	G	NM_001848		47418819	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	18.71	113	26	SNP	0.940	T	T	47418819	G	T	47418819	3	4	87	1	0	0	0	0	1	0	0	0	3706	991	35	3	1718	3	COL6A1	21	47418819	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	466814	47418819	711076	1929	25053											
COL6A1	1291	genome.wustl.edu	37	chr21	47423639	47423639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcgaggcctcgtccggCgctgccaagaagaggctgct	7	6	14	14	5	0	2	0	0	0	2	2	3	1	2	4	3	3	3	4	3	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:47423639C>T	ENST00000361866.3	+	35	2913	c.2799C>T	c.(2797-2799)ggC>ggT	p.G933G	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	933	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CCTCGTCCGGCGCTGCCAAGA	0.652																																																	0													27	23	24					21																	47423639		2202	4297	6499	SO:0001819	synonymous_variant	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2799C>T	21.37:g.47423639C>T			O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G933	ENST00000361866.3	37	c.2799	CCDS13727.1	21																																																																																			COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	44	0	C	NM_001848		47423639	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	silent	34.00	33	17	SNP	0.000	T	T	47423639	C	T	47423639	2	4	87	1	0	0	0	0	0	0	0	1	3706	755	27	1		1	COL6A1	21	47423639	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4820	47423639	706256	1930	25054											
FTCD	10841	genome.wustl.edu	37	chr21	47571590	47571591	+	Frame_Shift_Ins	INS	-	-	C																															cctcgcccccgtggccgtggINSccccccaactggggacaaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr21:47571590_47571591insC	ENST00000291670.5	-	5	560_561	c.517_518insG	c.(517-519)gccfs	p.A173fs	FTCD_ENST00000355384.2_Frame_Shift_Ins_p.A173fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Frame_Shift_Ins_p.A173fs|FTCD_ENST00000397748.1_Frame_Shift_Ins_p.A173fs|FTCD_ENST00000397746.3_Frame_Shift_Ins_p.A173fs|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397743.1_Frame_Shift_Ins_p.A173fs	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	173	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CGTGGCCGTGGCCCCCCAACTG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.518dupG	21.37:g.47571596_47571596dupC	ENSP00000291670:p.Ala173fs		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Frame_Shift_Ins	INS	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.A173fs	ENST00000291670.5	37	c.518_517	CCDS13731.1	21																																																																																			FTCD	-	pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat	ENSG00000160282		0.639	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1		0	90	0	-	NM_006657		47571591	-1	tier1		no_errors	ENST00000359679	ensembl	human	known	74_37	frame_shift_ins	27.91	62	24	INS	1.000:1.000	C	C	47571591	-	C	47571590	7	5	87	1	0	1	1	0	0	0	0	0	6105	1203	42	0	1147	0	FTCD	21	47571590	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	147951	47571590	558305	1931	25055											
GAB4	128954	genome.wustl.edu	37	chr22	17488851	17488852	+	Frame_Shift_Ins	INS	-	-	G																															aagagcctcagcttcttctcINSggggggcgacttcctcagcc																								rs368592506	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:17488851_17488852insG	ENST00000400588.1	-	1	260_261	c.153_154insC	c.(151-156)cccgagfs	p.E52fs	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	52	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGCTTCTTCTCGGGGGGCGACT	0.688																																																	0																																										SO:0001589	frameshift_variant	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"Pleckstrin homology (PH) domain containing"	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.154dupC	22.37:g.17488857_17488857dupG	ENSP00000383431:p.Glu52fs			Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E51fs	ENST00000400588.1	37	c.154_153	CCDS42976.1	22																																																																																			GAB4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000215568		0.688	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1		0	48	0	-	XM_372882		17488852	-1	tier1		no_errors	ENST00000400588	ensembl	human	known	74_37	frame_shift_ins	15.91	37	7	INS	0.063:0.067	G	G	17488852	-	G	17488851	7	5	87	1	0	1	1	0	0	0	0	0	6175	893	31	0	1610	0	GAB4	22	17488851	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09		17488851	33815715	1932	25056											
CECR1	51816	genome.wustl.edu	37	chr22	17662461	17662461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcactctccaacagggtaCtgtacctgcaggaagaggag	11	8	11	11	0	2	1	1	0	2	1	4	3	2	3	2	3	4	3	2	3	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:17662461C>T	ENST00000399839.1	-	10	1718	c.1448G>A	c.(1447-1449)aGt>aAt	p.S483N	CECR1_ENST00000262607.3_Missense_Mutation_p.S483N|CECR1_ENST00000399837.2_Missense_Mutation_p.S483N|CECR1_ENST00000449907.2_Missense_Mutation_p.S441N|CECR1_ENST00000330232.4_Missense_Mutation_p.S242N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	483					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAACAGGGTACTGTACCTGCA	0.527																																																	0													144	144	144					22																	17662461		2203	4300	6503	SO:0001583	missense	0			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1448G>A	22.37:g.17662461C>T	ENSP00000382733:p.Ser483Asn		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.S483N	ENST00000399839.1	37	c.1448	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	C	14.64	2.596033	0.46318	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73	3.53	3.53	0.40419	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.99020	0.9665	H	0.95151	3.63	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99364	1.0918	10	0.87932	D	0	.	14.065	0.64824	0.0:1.0:0.0:0.0	.	483;242	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	N	483;242;483;441;483	ENSP00000382733:S483N;ENSP00000332871:S242N;ENSP00000262607:S483N;ENSP00000406443:S441N;ENSP00000382731:S483N	ENSP00000262607:S483N	S	-	2	0	CECR1	16042461	0.998000	0.40836	0.138000	0.22173	0.012000	0.07955	5.099000	0.64554	1.503000	0.48686	0.591000	0.81541	AGT	CECR1	-	pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like	ENSG00000093072		0.527	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	-	0	38	0	C			17662461	-1	tier1	-	no_errors	ENST00000262607	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.995	T	T	17662461	C	T	17662461	3	4	87	1	0	0	0	0	1	0	0	0	3212	565	20	3	91	3	CECR1	22	17662461	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	173610	17662461	33642105	1933	25057											
TUBA8	51807	genome.wustl.edu	37	chr22	18613631	18613631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcatcaactaccagcccCcgaccgtggtccccggggga	7	5	13	16	3	1	0	1	0	0	0	2	2	2	1	6	4	3	1	6	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:18613631C>A	ENST00000330423.3	+	5	1151	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T	TUBA8_ENST00000316027.6_Missense_Mutation_p.P294T	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	360					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTACCAGCCCCCGACCGTGGT	0.627																																																	0													39	42	41					22																	18613631		2203	4300	6503	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"Tubulins"	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.1078C>A	22.37:g.18613631C>A	ENSP00000333326:p.Pro360Thr		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.P360T	ENST00000330423.3	37	c.1078	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	18.03	3.533545	0.64972	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.89617	-2.54;-2.54;-2.54	5.29	5.29	0.74685	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96880	0.8981	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	0.999;0.993;1.0	D;D;D	0.97110	0.997;0.977;1.0	D	0.98268	1.0502	10	0.87932	D	0	.	18.2967	0.90148	0.0:1.0:0.0:0.0	.	294;384;360	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	T	294;360;384	ENSP00000318575:P294T;ENSP00000333326:P360T;ENSP00000412646:P384T	ENSP00000318575:P294T	P	+	1	0	TUBA8	16993631	1.000000	0.71417	0.671000	0.29857	0.887000	0.51463	7.792000	0.85828	2.625000	0.88918	0.655000	0.94253	CCG	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000183785		0.627	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	-	0	55	0	C	NM_018943		18613631	1	tier1	-	no_errors	ENST00000330423	ensembl	human	known	74_37	missense	19.05	51	12	SNP	1.000	A	A	18613631	C	A	18613631	3	1	87	1	0	0	0	0	1	0	0	0	16799	623	22	3	1096	3	TUBA8	22	18613631	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	951170	18613631	32690935	1934	25058											
DGCR8	54487	genome.wustl.edu	37	chr22	20074724	20074724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgctctgctggaagaaGgcctttgtgcccccaaaaag	10	9	12	10	0	1	1	0	0	1	1	1	3	1	3	3	3	3	2	3	3	4	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:20074724G>T	ENST00000351989.3	+	3	1189	c.760G>T	c.(760-762)Ggc>Tgc	p.G254C	MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.G254C|DGCR8_ENST00000407755.1_Missense_Mutation_p.G254C|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	254	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCTGGAAGAAGGCCTTTGTGC	0.542																																																	0													162	145	151					22																	20074724		2203	4300	6503	SO:0001583	missense	0			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"chromosome 22 open reading frame 12", "DiGeorge syndrome critical region gene 8"	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.760G>T	22.37:g.20074724G>T	ENSP00000263209:p.Gly254Cys		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom	p.G254C	ENST00000351989.3	37	c.760	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528539	0.85706	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.40476	1.11;1.03;1.03	6.04	5.01	0.66863	.	0.156649	0.64402	D	0.000017	T	0.58075	0.2097	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.68483	0.958;0.879	T	0.56926	-0.7898	10	0.51188	T	0.08	-16.3581	10.2037	0.43101	0.0694:0.0:0.797:0.1336	.	254;254	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	C	254	ENSP00000263209:G254C;ENSP00000372488:G254C;ENSP00000384726:G254C	ENSP00000263209:G254C	G	+	1	0	DGCR8	18454724	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.469000	0.80959	2.873000	0.98535	0.561000	0.74099	GGC	DGCR8	-	NULL	ENSG00000128191		0.542	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	-	0	35	0	G			20074724	1	tier1	-	no_errors	ENST00000351989	ensembl	human	known	74_37	missense	13.89	30	5	SNP	1.000	T	T	20074724	G	T	20074724	3	4	87	1	0	0	0	0	1	0	0	0	4478	1000	35	3	766	3	DGCR8	22	20074724	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1461093	20074724	31229842	1935	25059											
ZDHHC8	29801	genome.wustl.edu	37	chr22	20132832	20132833	+	Frame_Shift_Ins	INS	-	-	C																															cggctgggacctgccaccggINSccccccagggccctctgcca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:20132832_20132833insC	ENST00000334554.7	+	11	2348_2349	c.2207_2208insC	c.(2206-2211)ggccccfs	p.GP736fs	ZDHHC8_ENST00000405930.3_Intron|ZDHHC8_ENST00000320602.7_Frame_Shift_Ins_p.GP644fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	736					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTGCCACCGGCCCCCCAGGGC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"Zinc fingers, DHHC-type"	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.2213dupC	22.37:g.20132838_20132838dupC	ENSP00000334490:p.Gly736fs		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Frame_Shift_Ins	INS	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.G739fs	ENST00000334554.7	37	c.2207_2208	CCDS13776.1	22																																																																																			ZDHHC8	-	NULL	ENSG00000099904		0.639	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC8	HGNC	protein_coding	OTTHUMT00000318564.1		0	33	0	-	NM_013373		20132833	1	tier1		no_errors	ENST00000334554	ensembl	human	known	74_37	frame_shift_ins	28.21	28	11	INS	1.000:1.000	C	C	20132833	-	C	20132832	7	5	87	1	0	1	1	0	0	0	0	0	17669	1203	42	0	2249	0	ZDHHC8	22	20132832	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	58108	20132832	31171734	1936	25060											
PI4KA	5297	genome.wustl.edu	37	chr22	21161675	21161675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagtacagagtgtcacgCagcatcttgaacatggtcag	12	10	11	8	1	3	2	2	1	1	1	3	2	3	2	0	1	3	4	0	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:21161675C>T	ENST00000572273.1	-	10	1199	c.969G>A	c.(967-969)ctG>ctA	p.L323L	PI4KA_ENST00000255882.6_Silent_p.L381L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	323					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GAGTGTCACGCAGCATCTTGA	0.522																																					GBM(136;1332 1831 3115 23601 50806)												0													194	133	154					22																	21161675		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.969G>A	22.37:g.21161675C>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L381	ENST00000572273.1	37	c.1143		22																																																																																			PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.522	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	47	0	C	NM_058004		21161675	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	23.33	23	7	SNP	0.987	T	T	21161675	C	T	21161675	2	4	87	1	0	0	0	0	0	0	0	1	11912	697	25	3		3	PI4KA	22	21161675	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1028843	21161675	30142891	1937	25061											
LZTR1	8216	genome.wustl.edu	37	chr22	21348525	21348525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggtgctcatgcagttcCtctacaccgacaagatcaaa	12	9	8	12	2	3	1	2	0	1	1	5	3	4	1	2	1	3	3	2	1	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:21348525C>A	ENST00000215739.8	+	14	1941	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.L509I	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	528	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATGCAGTTCCTCTACACCGA	0.697																																																	0													17	18	18					22																	21348525		2197	4296	6493	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1582C>A	22.37:g.21348525C>A	ENSP00000215739:p.Leu528Ile		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L528I	ENST00000215739.8	37	c.1582	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239900	0.22711	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.70516	-0.49;-0.49	4.63	4.63	0.57726	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	N	0.16233	0.39	0.80722	D	1	P;B;B;P	0.46784	0.733;0.178;0.4;0.884	B;B;B;B	0.43658	0.426;0.062;0.228;0.41	T	0.56757	-0.7926	10	0.02654	T	1	-39.929	15.0237	0.71650	0.0:1.0:0.0:0.0	.	509;487;528;487	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	I	487;528;509	ENSP00000215739:L528I;ENSP00000374006:L509I	ENSP00000215739:L528I	L	+	1	0	LZTR1	19678525	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	4.809000	0.62591	2.391000	0.81399	0.462000	0.41574	CTC	LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.697	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	82	0	C	NM_006767		21348525	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	A	A	21348525	C	A	21348525	3	1	87	1	0	0	0	0	1	0	0	0	9173	681	24	3	1636	3	LZTR1	22	21348525	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	186850	21348525	29956041	1938	25062											
THAP7	80764	genome.wustl.edu	37	chr22	21355663	21355663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgctggcagttggccaGccacaagcctcgcctcgggt	6	6	13	16	3	0	0	0	0	0	0	2	0	0	0	5	3	3	3	5	3	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:21355663G>A	ENST00000215742.4	-	2	292	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7_ENST00000399133.2_Silent_p.L40L|THAP7-AS1_ENST00000436079.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	40					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGTTGGCCAGCCACAAGCCT	0.627																																																	0													58	66	63					22																	21355663		2200	4291	6491	SO:0001819	synonymous_variant	0			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"THAP (C2CH-type zinc finger) domain containing"	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.118C>T	22.37:g.21355663G>A			B2RD97|D3DX40	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L40	ENST00000215742.4	37	c.118	CCDS13787.1	22																																																																																			THAP7	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	ENSG00000184436		0.627	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7	HGNC	protein_coding	OTTHUMT00000320405.1	-	0	89	0	G	NM_030573		21355663	-1	tier1	-	no_errors	ENST00000215742	ensembl	human	known	74_37	silent	30.77	53	24	SNP	1.000	A	A	21355663	G	A	21355663	2	1	87	1	0	0	0	0	0	0	0	1	15896	962	34	3		3	THAP7	22	21355663	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7138	21355663	29948903	1939	25063											
TOP3B	8940	genome.wustl.edu	37	chr22	22318305	22318305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcggtacctaattcggcCtctgtggcagacttcatggg	8	10	13	10	2	2	2	1	0	1	2	3	2	2	2	2	4	2	2	2	4	2	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:22318305C>A	ENST00000398793.2	-	11	1628	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	TOP3B_ENST00000357179.5_Missense_Mutation_p.E398D|TOP3B_ENST00000413067.2_Missense_Mutation_p.E127D	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	398					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTAATTCGGCCTCTGTGGCAG	0.612																																																	0													83	76	78					22																	22318305		2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1194G>T	22.37:g.22318305C>A	ENSP00000381773:p.Glu398Asp		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.E398D	ENST00000398793.2	37	c.1194	CCDS13797.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.14|15.14	2.746306|2.746306	0.49257|0.49257	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067|ENST00000457270	T;T;T|.	0.23950|.	1.88;1.88;1.88|.	4.48|4.48	1.21|1.21	0.21127|0.21127	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);|.	0.103338|.	0.64402|.	D|.	0.000003|.	T|T	0.51075|0.51075	0.1653|0.1653	L|L	0.41824|0.41824	1.3|1.3	0.49798|0.49798	D|D	0.999829|0.999829	B;B|.	0.25105|.	0.118;0.036|.	B;B|.	0.30646|.	0.118;0.042|.	T|T	0.34477|0.34477	-0.9827|-0.9827	10|5	0.39692|.	T|.	0.17|.	.|.	8.0672|8.0672	0.30667|0.30667	0.0:0.5896:0.0:0.4104|0.0:0.5896:0.0:0.4104	.|.	398;398|.	O95985;O95985-2|.	TOP3B_HUMAN;.|.	D|M	398;398;127|193	ENSP00000349705:E398D;ENSP00000381773:E398D;ENSP00000393118:E127D|.	ENSP00000349705:E398D|.	E|R	-|-	3|2	2|0	TOP3B|TOP3B	20648305|20648305	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.869000|0.869000	0.49853|0.49853	1.233000|1.233000	0.32648|0.32648	0.246000|0.246000	0.21394|0.21394	-0.137000|-0.137000	0.14449|0.14449	GAG|AGG	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd	ENSG00000100038		0.612	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0	23	0	C	NM_003935		22318305	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.997	A	A	22318305	C	A	22318305	3	1	87	1	0	0	0	0	1	0	0	0	16416	680	24	3	1426	3	TOP3B	22	22318305	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	962642	22318305	28986261	1940	25064											
ZNF280B	140883	genome.wustl.edu	37	chr22	22842653	22842653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcgatgtgacactgtagCtggaagggagtgggaaactg	10	11	15	5	1	0	1	0	1	0	0	1	5	0	4	0	3	2	2	0	3	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:22842653C>T	ENST00000406426.1	-	4	1813	c.1071G>A	c.(1069-1071)caG>caA	p.Q357Q	ZNF280B_ENST00000360412.2_Silent_p.Q357Q			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GACACTGTAGCTGGAAGGGAG	0.493																																																	0													144	132	136					22																	22842653		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"zinc finger protein 279", "suppressor of hairy wing homolog 2 (Drosophila)"	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.1071G>A	22.37:g.22842653C>T				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q357	ENST00000406426.1	37	c.1071	CCDS13799.1	22																																																																																			ZNF280B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198477		0.493	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	HGNC	protein_coding	OTTHUMT00000321170.2	-	0	81	0	C	NM_080764		22842653	-1	tier1	-	no_errors	ENST00000360412	ensembl	human	known	74_37	silent	13.75	69	11	SNP	0.999	T	T	22842653	C	T	22842653	2	4	87	1	0	0	0	0	0	0	0	1	17863	796	28	3		3	ZNF280B	22	22842653	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	524348	22842653	28461913	1941	25065											
C22orf15	150248	genome.wustl.edu	37	chr22	24106534	24106534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcccgggcccagaccatggGcaactccctactgaaggagc	9	6	11	15	1	0	2	0	1	0	1	2	3	2	3	4	3	3	1	4	3	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:24106534G>A	ENST00000402217.3	+	3	453	c.200G>A	c.(199-201)gGc>gAc	p.G67D	C22orf15_ENST00000382821.3_Missense_Mutation_p.G67D|C22orf15_ENST00000305199.5_Missense_Mutation_p.G67D	NM_182520.2	NP_872326.2	Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	67										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				CAGACCATGGGCAACTCCCTA	0.572																																																	0													66	74	72					22																	24106534		692	1591	2283	SO:0001583	missense	0			AB050773	CCDS13814.2	22q11.23	2012-11-13			ENSG00000169314	ENSG00000169314			15558	protein-coding gene	gene with protein product							Standard	NM_182520		Approved	FLJ36561, N27C7-3	uc011aja.2	Q8WYQ4	OTTHUMG00000150740	ENST00000402217.3:c.200G>A	22.37:g.24106534G>A	ENSP00000384965:p.Gly67Asp		Q6ICJ7	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.G67D	ENST00000402217.3	37	c.200	CCDS13814.2	22	.	.	.	.	.	.	.	.	.	.	G	9.742	1.165153	0.21538	.	.	ENSG00000169314	ENST00000336186;ENST00000402217;ENST00000305199;ENST00000382821	T	0.40476	1.03	3.53	-3.6	0.04570	.	0.932856	0.08765	N	0.897163	T	0.45538	0.1347	L	0.40543	1.245	0.09310	N	1	B;D;B	0.76494	0.297;0.999;0.301	B;D;B	0.66979	0.081;0.948;0.081	T	0.41698	-0.9494	10	0.72032	D	0.01	-4.4958	3.9702	0.09449	0.1024:0.4651:0.2841:0.1484	.	67;67;67	Q8WYQ4;C9JMV7;Q8WYQ4-2	CV015_HUMAN;.;.	D	67	ENSP00000384965:G67D	ENSP00000305096:G67D	G	+	2	0	C22orf15	22436534	0.775000	0.28604	0.000000	0.03702	0.002000	0.02628	0.186000	0.16978	-0.711000	0.04995	-1.105000	0.02106	GGC	C22orf15	-	NULL	ENSG00000169314		0.572	C22orf15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf15	HGNC	protein_coding	OTTHUMT00000319887.2		0	22	0	G	NM_182520		24106534	1			no_errors	ENST00000402217	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.003	A	A	24106534	G	A	24106534	3	1	87	1	0	0	0	0	1	0	0	0	2143	1203	42	3	210	3	C22orf15	22	24106534	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1263881	24106534	27198032	1942	25066											
CABIN1	23523	genome.wustl.edu	37	chr22	24447362	24447362	+	Frame_Shift_Del	DEL	A	A	-																															gatgaggccttggggctgcgAaaaaagaggcaagcgctgat																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:24447362delA	ENST00000398319.2	+	8	1117	c.732delA	c.(730-732)cgafs	p.R244fs	CABIN1_ENST00000405822.2_Intron|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.R244fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	244					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGGGGCTGCGAAAAAAGAGGC	0.522																																																	0													114	101	105					22																	24447362		2203	4300	6503	SO:0001589	frameshift_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.732delA	22.37:g.24447362delA	ENSP00000381364:p.Arg244fs		G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K246fs	ENST00000398319.2	37	c.732	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.522	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2		0	76	0	A	NM_012295		24447362	1	tier1		no_errors	ENST00000263119	ensembl	human	known	74_37	frame_shift_del	16.67	60	12	DEL	0.949	-	-	24447362	A	-	24447362	7	5	87	1	0	1	0	1	0	0	0	0	2535	233	9	0	758	0	CABIN1	22	24447362	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	340828	24447362	26857204	1943	25067											
ASPHD2	57168	genome.wustl.edu	37	chr22	26830127	26830127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccctatttctcccgggaCgcacagaaacatgatgtgga	11	8	10	12	3	1	2	0	1	1	1	2	4	1	4	2	2	1	1	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:26830127C>T	ENST00000215906.5	+	2	984	c.546C>T	c.(544-546)gaC>gaT	p.D182D		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	182					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TCTCCCGGGACGCACAGAAAC	0.592																																																	0													42	43	43					22																	26830127		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.546C>T	22.37:g.26830127C>T			B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.D182	ENST00000215906.5	37	c.546	CCDS13834.2	22																																																																																			ASPHD2	-	NULL	ENSG00000128203		0.592	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	-	0	51	0	C	NM_020437		26830127	1	tier1	-	no_errors	ENST00000215906	ensembl	human	known	74_37	silent	16.98	44	9	SNP	0.234	T	T	26830127	C	T	26830127	2	4	87	1	0	0	0	0	0	0	0	1	1056	535	19	1		1	ASPHD2	22	26830127	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2382765	26830127	24474439	1944	25068											
KREMEN1	83999	genome.wustl.edu	37	chr22	29490351	29490351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagactttccagcatccatAcaacactctgaaatacccca	14	8	4	15	1	1	2	0	1	1	1	3	3	3	2	4	0	4	1	4	0	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:29490351A>G	ENST00000407188.1	+	2	197	c.197A>G	c.(196-198)tAc>tGc	p.Y66C	KREMEN1_ENST00000327813.5_Missense_Mutation_p.Y68C|KREMEN1_ENST00000400335.4_Missense_Mutation_p.Y68C|KREMEN1_ENST00000400338.2_Missense_Mutation_p.Y68C			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	66	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CAGCATCCATACAACACTCTG	0.483																																																	0													83	80	81					22																	29490351		1891	4102	5993	SO:0001583	missense	0			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"kringle containing transmembrane protein"	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.197A>G	22.37:g.29490351A>G	ENSP00000385431:p.Tyr66Cys		B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,superfamily_Scorpion_toxin-like,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd	p.Y68C	ENST00000407188.1	37	c.203	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884568	0.72410	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	4.99	4.99	0.66335	.	0.000000	0.56097	D	0.000030	D	0.86276	0.5894	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89986	0.4104	10	0.87932	D	0	.	12.9508	0.58399	1.0:0.0:0.0:0.0	.	68;68	Q96MU8-2;Q96MU8-3	.;.	C	68;68;68;66	ENSP00000383189:Y68C;ENSP00000383192:Y68C;ENSP00000331242:Y68C;ENSP00000385431:Y66C	ENSP00000331242:Y68C	Y	+	2	0	KREMEN1	27820351	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.986000	0.76200	2.017000	0.59298	0.528000	0.53228	TAC	KREMEN1	-	pirsf_Kremen,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000183762		0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	-	0	63	0	A			29490351	1	tier1	-	no_errors	ENST00000327813	ensembl	human	known	74_37	missense	15.38	55	10	SNP	1.000	G	G	29490351	A	G	29490351	3	3	87	1	0	0	0	0	1	0	0	0	8469	391	14	4	209	4	KREMEN1	22	29490351	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	2660224	29490351	21814215	1945	25069											
AP1B1	162	genome.wustl.edu	37	chr22	29737580	29737580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtagacggaagccagcGtgccgatgtagcagataagc	12	7	14	8	3	0	2	0	0	0	2	0	4	0	3	2	2	5	3	2	2	5	4	rs368232828		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:29737580G>A	ENST00000405198.1	-	12	1737	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	AP1B1_ENST00000415447.1_Missense_Mutation_p.T569M|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000402502.1_Missense_Mutation_p.T569M|AP1B1_ENST00000432560.2_Missense_Mutation_p.T569M|AP1B1_ENST00000317368.7_Missense_Mutation_p.T569M|AP1B1_ENST00000357586.2_Missense_Mutation_p.T569M|AP1B1_ENST00000356015.2_Missense_Mutation_p.T569M			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	569					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGAAGCCAGCGTGCCGATGTA	0.607																																																	0								G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	129	100	110		1706,1706,1706	5.7	1	22		110	0,8600		0,0,4300	no	missense,missense,missense	AP1B1	NM_001127.3,NM_001166019.1,NM_145730.2	81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	569/950,569/920,569/940	29737580	1,13005	2203	4300	6503	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1706C>T	22.37:g.29737580G>A	ENSP00000384194:p.Thr569Met		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.T569M	ENST00000405198.1	37	c.1706	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710244	0.89018	2.27E-4	0.0	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47;2.47;2.47;2.47	5.66	5.66	0.87406	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.73217	2.22	0.80722	D	1	D;P;P;D;D	0.89917	0.996;0.932;0.932;1.0;0.999	P;P;P;D;D	0.73708	0.7;0.574;0.574;0.958;0.981	T	0.13845	-1.0494	10	0.48119	T	0.1	-19.8342	19.3511	0.94387	0.0:0.0:1.0:0.0	.	122;569;569;569;569	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	M	569	ENSP00000350199:T569M;ENSP00000348297:T569M;ENSP00000400065:T569M;ENSP00000384194:T569M;ENSP00000319361:T569M;ENSP00000386071:T569M;ENSP00000387612:T569M;ENSP00000400022:T569M	ENSP00000319361:T569M	T	-	2	0	AP1B1	28067580	1.000000	0.71417	0.960000	0.40013	0.742000	0.42306	9.869000	0.99810	2.665000	0.90641	0.655000	0.94253	ACG	AP1B1	-	superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4	ENSG00000100280		0.607	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	-	0	52	0	G	NM_001127		29737580	-1	tier1	-	no_errors	ENST00000357586	ensembl	human	known	74_37	missense	38.10	39	24	SNP	1.000	A	A	29737580	G	A	29737580	3	1	87	1	0	0	0	0	1	0	0	0	731	1145	40	1	1187	1	AP1B1	22	29737580	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	247229	29737580	21566986	1946	25070											
ASCC2	84164	genome.wustl.edu	37	chr22	30221678	30221678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggctacgaaggtggcgCgttccaggtactcctccact	7	10	11	13	3	0	0	0	0	0	0	3	1	3	0	3	4	2	3	3	4	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:30221678C>T	ENST00000397771.2	-	4	350	c.173G>A	c.(172-174)cGc>cAc	p.R58H	ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Missense_Mutation_p.R58H			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GAAGGTGGCGCGTTCCAGGTA	0.512																																																	0													133	118	123					22																	30221678		2203	4300	6503	SO:0001583	missense	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"ASC 1 complex subunit P100"	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.173G>A	22.37:g.30221678C>T	ENSP00000380877:p.Arg58His		B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.R58H	ENST00000397771.2	37	c.173	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751896	0.49362	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000431535;ENST00000412689	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.98	5.98	0.97165	.	0.109078	0.64402	D	0.000006	T	0.22742	0.0549	N	0.12471	0.22	0.80722	D	1	B	0.32188	0.359	B	0.26202	0.067	T	0.06899	-1.0801	10	0.17832	T	0.49	-6.81	19.4315	0.94772	0.0:1.0:0.0:0.0	.	58	Q9H1I8	ASCC2_HUMAN	H	58	ENSP00000305502:R58H;ENSP00000380877:R58H;ENSP00000412382:R58H;ENSP00000417032:R58H	ENSP00000305502:R58H	R	-	2	0	ASCC2	28551678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.233000	0.58651	2.838000	0.97847	0.655000	0.94253	CGC	ASCC2	-	NULL	ENSG00000100325		0.512	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	-	0	73	0	C	NM_032204		30221678	-1	tier1	-	no_errors	ENST00000307790	ensembl	human	known	74_37	missense	10.00	62	7	SNP	1.000	T	T	30221678	C	T	30221678	3	4	87	1	0	0	0	0	1	0	0	0	1033	768	27	1	2172	1	ASCC2	22	30221678	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	484098	30221678	21082888	1947	25071											
RNF215	200312	genome.wustl.edu	37	chr22	30775768	30775768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtccacacagtctcggTgaaactcgtgcttacagggc	9	8	13	11	2	1	1	0	1	1	0	4	1	2	1	1	4	3	1	1	4	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:30775768T>C	ENST00000382363.3	-	8	1117	c.1043A>G	c.(1042-1044)cAc>cGc	p.H348R	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	348						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						ACAGTCTCGGTGAAACTCGTG	0.647																																																	0													48	43	45					22																	30775768		2197	4293	6490	SO:0001583	missense	0				CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"RING-type (C3HC4) zinc fingers"	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.1043A>G	22.37:g.30775768T>C	ENSP00000371800:p.His348Arg		A6NEL1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H348R	ENST00000382363.3	37	c.1043	CCDS33633.1	22	.	.	.	.	.	.	.	.	.	.	T	17.01	3.278708	0.59758	.	.	ENSG00000099999	ENST00000382363	T	0.78003	-1.14	4.71	4.71	0.59529	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92237	0.7538	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94482	0.7694	10	0.87932	D	0	-25.3716	12.5853	0.56414	0.0:0.0:0.0:1.0	.	348	Q9Y6U7	RN215_HUMAN	R	348	ENSP00000371800:H348R	ENSP00000371800:H348R	H	-	2	0	RNF215	29105768	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.395000	0.66291	1.970000	0.57323	0.459000	0.35465	CAC	RNF215	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000099999		0.647	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF215	HGNC	protein_coding	OTTHUMT00000320960.1	-	0	30	0	T	NM_001017981		30775768	-1	tier1	-	no_errors	ENST00000382363	ensembl	human	known	74_37	missense	17.14	29	6	SNP	1.000	C	C	30775768	T	C	30775768	3	2	87	1	0	0	0	0	1	0	0	0	13524	1696	59	4	98	4	RNF215	22	30775768	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	554090	30775768	20528798	1948	25072											
PES1	23481	genome.wustl.edu	37	chr22	30977620	30977620	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaccctgtagtccacGtctgtcgggtgctggggaac	6	9	14	12	2	1	1	0	1	1	0	3	2	2	2	3	3	2	2	3	3	2	1	rs565165480		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:30977620G>A	ENST00000405677.1	-	9	1168	c.225C>T	c.(223-225)gaC>gaT	p.D75D	PES1_ENST00000335214.6_Silent_p.D214D|PES1_ENST00000354694.7_Silent_p.D214D|PES1_ENST00000402281.1_Silent_p.D75D|PES1_ENST00000402284.3_Silent_p.D197D	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGTAGTCCACGTCTGTCGGGT	0.577													G|||	1	0.000199681	0	0	5008	,	,		15509	0		0	False		,,,				2504	0.001																0													96	69	78					22																	30977620		2203	4300	6503	SO:0001819	synonymous_variant	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.225C>T	22.37:g.30977620G>A				Silent	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.D214	ENST00000405677.1	37	c.642		22																																																																																			PES1	-	pfam_Pescadillo	ENSG00000100029		0.577	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	-	0	18	0	G	NM_014303		30977620	-1	tier1	-	no_errors	ENST00000354694	ensembl	human	known	74_37	silent	27.78	13	5	SNP	0.980	A	A	30977620	G	A	30977620	2	1	87	1	0	0	0	0	0	0	0	1	11772	1136	40	1		1	PES1	22	30977620	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	201852	30977620	20326946	1949	25073											
TCN2	6948	genome.wustl.edu	37	chr22	31006966	31006966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccagcatctatgtgggccTacgcctctccagtctgcagg	6	9	10	16	1	3	0	0	0	3	0	4	0	3	0	5	2	3	2	5	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:31006966T>C	ENST00000215838.3	+	2	667	c.173T>C	c.(172-174)cTa>cCa	p.L58P	TCN2_ENST00000407817.3_Missense_Mutation_p.L58P|TCN2_ENST00000405742.3_Missense_Mutation_p.L58P			P20062	TCO2_HUMAN	transcobalamin II	58					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATGTGGGCCTACGCCTCTCC	0.572																																																	0													200	184	189					22																	31006966		2203	4300	6503	SO:0001583	missense	0				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.173T>C	22.37:g.31006966T>C	ENSP00000215838:p.Leu58Pro		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.L58P	ENST00000215838.3	37	c.173	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500640	0.85176	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	T;T;T;T	0.60040	0.73;0.73;0.73;0.22	6.16	6.16	0.99307	.	0.063352	0.64402	D	0.000005	T	0.77164	0.4090	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.80221	-0.1472	10	0.87932	D	0	-14.0481	14.3293	0.66545	0.0:0.0:0.0:1.0	.	58;58;58	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	P	58	ENSP00000215838:L58P;ENSP00000411529:L58P;ENSP00000385914:L58P;ENSP00000384914:L58P	ENSP00000215838:L58P	L	+	2	0	TCN2	29336966	0.974000	0.33945	1.000000	0.80357	0.947000	0.59692	4.597000	0.61062	2.367000	0.80283	0.528000	0.53228	CTA	TCN2	-	pfam_Cbl-bd_transpt_euk	ENSG00000185339		0.572	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	-	0	91	0	T	NM_000355		31006966	1	tier1	-	no_errors	ENST00000215838	ensembl	human	known	74_37	missense	28.57	65	26	SNP	1.000	C	C	31006966	T	C	31006966	3	2	87	1	0	0	0	0	1	0	0	0	15754	1522	53	4	179	4	TCN2	22	31006966	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	29346	31006966	20297600	1950	25074											
PATZ1	23598	genome.wustl.edu	37	chr22	31737641	31737641	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggaagaggttccaggggcGgcaggccgctgctgctccca	7	6	16	12	2	0	1	0	0	0	1	2	2	2	2	3	6	2	5	3	6	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:31737641G>A	ENST00000266269.5	-	2	1965				PATZ1_ENST00000215919.3_Missense_Mutation_p.P455L|PATZ1_ENST00000405309.3_Intron|PATZ1_ENST00000351933.4_Intron	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1						male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TTCCAGGGGCGGCAGGCCGCT	0.642																																																	0													46	51	49					22																	31737641		2203	4300	6503	SO:0001627	intron_variant	0			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13071	protein-coding gene	gene with protein product		605165	"zinc finger protein 278"	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1335+1241C>T	22.37:g.31737641G>A			Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P455L	ENST00000266269.5	37	c.1364	CCDS13894.1	22	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150429	0.78001	.	.	ENSG00000100105	ENST00000215919	T	0.09723	2.95	5.19	5.19	0.71726	.	.	.	.	.	T	0.21674	0.0522	L	0.29908	0.895	0.36804	D	0.885495	D	0.76494	0.999	D	0.79108	0.992	T	0.02698	-1.1122	9	0.66056	D	0.02	.	14.0828	0.64937	0.0:0.0:1.0:0.0	.	455	Q9HBE1-4	.	L	455	ENSP00000215919:P455L	ENSP00000215919:P455L	P	-	2	0	PATZ1	30067641	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	2.876000	0.48498	2.705000	0.92388	0.655000	0.94253	CCG	PATZ1	-	NULL	ENSG00000100105		0.642	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1		0	33	0	G	NM_032052		31737641	-1			no_errors	ENST00000215919	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	31737641	G	A	31737641	1	1	87	0	1	0	0	0	0	0	0	0	11515	1116	39	1		1	PATZ1	22	31737641	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	730675	31737641	19566925	1951	25075											
C22orf30	253143	genome.wustl.edu	37	chr22	32099549	32099549	+	Frame_Shift_Del	DEL	G	G	-																															cacttacctctttctgttctGgggggctgctctgtgggcag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32099549delG	ENST00000327423.6	-	6	6176	c.5987delC	c.(5986-5988)ccafs	p.P1996fs	PRR14L_ENST00000434485.1_Frame_Shift_Del_p.P1996fs|PRR14L_ENST00000397493.2_Frame_Shift_Del_p.P1996fs	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	1996										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TTTCTGTTCTGGGGGGCTGCT	0.532																																																	0													106	104	105					22																	32099549		2203	4300	6503	SO:0001589	frameshift_variant	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.5987delC	22.37:g.32099549delG	ENSP00000331845:p.Pro1996fs		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Frame_Shift_Del	DEL	NULL	p.P1996fs	ENST00000327423.6	37	c.5987	CCDS13900.2	22																																																																																			PRR14L	-	NULL	ENSG00000183530		0.532	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2		0	47	0	G	NM_173566		32099549	-1	tier1		no_errors	ENST00000397493	ensembl	human	known	74_37	frame_shift_del	18.00	41	9	DEL	0.508	-	-	32099549	G	-	32099549	7	5	87	1	0	1	0	1	0	0	0	0	2149	1348	47	0	484	0	C22orf30	22	32099549	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	361908	32099549	19205017	1952	25076											
C22orf30	253143	genome.wustl.edu	37	chr22	32111916	32111916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaccagttcattggtacAagaaagttcattcatctcac	14	12	5	10	0	4	1	4	0	1	1	5	1	4	1	1	1	3	3	1	1	5	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32111916A>G	ENST00000327423.6	-	4	2098	c.1909T>C	c.(1909-1911)Tgt>Cgt	p.C637R	PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Missense_Mutation_p.C637R|PRR14L_ENST00000397493.2_Missense_Mutation_p.C637R	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	637										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						TCATTGGTACAAGAAAGTTCA	0.358																																																	0													164	134	143					22																	32111916		692	1591	2283	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.1909T>C	22.37:g.32111916A>G	ENSP00000331845:p.Cys637Arg		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.C637R	ENST00000327423.6	37	c.1909	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	A	4.223	0.040222	0.08148	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.06068	3.35;3.36;3.35	5.4	2.06	0.26882	.	0.798245	0.11068	N	0.603263	T	0.10852	0.0265	L	0.50333	1.59	0.09310	N	0.999997	D;P;D	0.55172	0.97;0.919;0.97	P;P;P	0.52856	0.584;0.584;0.711	T	0.24297	-1.0164	9	.	.	.	3.8596	4.813	0.13353	0.67:0.1592:0.1709:0.0	.	637;637;637	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	R	637	ENSP00000380630:C637R;ENSP00000331845:C637R;ENSP00000388314:C637R	.	C	-	1	0	PRR14L	30441916	0.000000	0.05858	0.003000	0.11579	0.803000	0.45373	0.628000	0.24522	0.105000	0.17753	0.533000	0.62120	TGT	PRR14L	-	NULL	ENSG00000183530		0.358	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	-	0	62	0	A	NM_173566		32111916	-1	tier1	-	no_errors	ENST00000397493	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.015	G	G	32111916	A	G	32111916	3	3	87	1	0	0	0	0	1	0	0	0	2149	130	5	4	4570	4	C22orf30	22	32111916	Missense_Mutation	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	12367	32111916	19192650	1953	25077											
DEPDC5	9681	genome.wustl.edu	37	chr22	32270369	32270369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggatccagacacaggCgatggccattgacatcatgc	11	6	14	10	1	1	2	1	1	0	1	2	5	2	4	2	5	1	0	2	5	0	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32270369C>T	ENST00000382112.3	+	35	3717	c.3647C>T	c.(3646-3648)gCg>gTg	p.A1216V	DEPDC5_ENST00000400249.2_Missense_Mutation_p.A1194V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.A1194V|DEPDC5_ENST00000266091.3_Missense_Mutation_p.A1203V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.A1225V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.A1125V|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000539165.1_Missense_Mutation_p.A42V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.A1147V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.A1225V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1225	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGACACAGGCGATGGCCATT	0.567																																																	0													46	49	48					22																	32270369		2052	4188	6240	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.3647C>T	22.37:g.32270369C>T	ENSP00000371546:p.Ala1216Val		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.A1203V	ENST00000382112.3	37	c.3608	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108564	0.37242	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	T;T;T;T;T;T;T;T;T	0.31247	1.92;1.92;1.92;1.92;1.5;1.92;1.92;1.92;1.92	4.92	2.84	0.33178	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.232106	0.39985	N	0.001211	T	0.12603	0.0306	N	0.03115	-0.41	0.30770	N	0.743124	B;B;B;B;B;B	0.24043	0.003;0.096;0.005;0.03;0.046;0.066	B;B;B;B;B;B	0.16722	0.004;0.016;0.003;0.004;0.011;0.008	T	0.09122	-1.0689	10	0.38643	T	0.18	.	8.7151	0.34405	0.0:0.787:0.0:0.213	.	1225;1125;611;1203;1216;1194	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	V	1125;1203;1194;1125;1225;1147;1216;1225;1194;42	ENSP00000440210:A1125V;ENSP00000266091:A1203V;ENSP00000383108:A1194V;ENSP00000383105:A1225V;ENSP00000371539:A1147V;ENSP00000371546:A1216V;ENSP00000371545:A1225V;ENSP00000383107:A1194V;ENSP00000446286:A42V	ENSP00000266091:A1203V	A	+	2	0	DEPDC5	30600369	0.602000	0.26916	0.203000	0.23512	0.964000	0.63967	0.970000	0.29383	0.675000	0.31264	0.561000	0.74099	GCG	DEPDC5	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000100150		0.567	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1		0	24	0	C	NM_014662		32270369	1			no_errors	ENST00000266091	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.751	T	T	32270369	C	T	32270369	3	4	87	1	0	0	0	0	1	0	0	0	4456	768	27	1	3803	1	DEPDC5	22	32270369	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	158453	32270369	19034197	1954	25078											
FBXO7	25793	genome.wustl.edu	37	chr22	32881117	32881117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcggggtgtataagctGcagtacatgcatcctctctg	8	12	12	9	1	1	1	0	1	1	0	3	1	2	1	1	2	5	5	1	2	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:32881117G>A	ENST00000266087.7	+	4	1035	c.708G>A	c.(706-708)ctG>ctA	p.L236L	FBXO7_ENST00000397426.1_Silent_p.L122L|FBXO7_ENST00000382058.3_Silent_p.L157L	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	236	Important for dimerization and interaction with PSMF1.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTATAAGCTGCAGTACATGC	0.488																																																	0													152	129	136					22																	32881117		2203	4300	6503	SO:0001819	synonymous_variant	0			AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"F-boxes /  "other"", "Parkinson disease"	13586	protein-coding gene	gene with protein product		605648	"F-box only protein 7"			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.708G>A	22.37:g.32881117G>A			B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Silent	SNP	pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.L236	ENST00000266087.7	37	c.708	CCDS13907.1	22																																																																																			FBXO7	-	pfam_FP_dom	ENSG00000100225		0.488	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO7	HGNC	protein_coding	OTTHUMT00000129001.1	-	0	53	0	G			32881117	1	tier1	-	no_errors	ENST00000266087	ensembl	human	known	74_37	silent	14.29	48	8	SNP	1.000	A	A	32881117	G	A	32881117	2	1	87	1	0	0	0	0	0	0	0	1	5782	1306	46	3		3	FBXO7	22	32881117	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	610748	32881117	18423449	1955	25079											
FOXRED2	80020	genome.wustl.edu	37	chr22	36897401	36897401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttggattcgtagctagctCgaatcagcgggtacttcttg	7	14	11	9	3	2	0	1	0	1	0	4	2	2	1	0	2	4	4	0	2	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:36897401C>T	ENST00000397224.4	-	5	1196	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	FOXRED2_ENST00000397223.4_Missense_Mutation_p.R368Q|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R368Q|FOXRED2_ENST00000366463.3_5'Flank	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	368					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTAGCTAGCTCGAATCAGCGG	0.527																																																	0													79	77	78					22																	36897401		2203	4300	6503	SO:0001583	missense	0			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1103G>A	22.37:g.36897401C>T	ENSP00000380401:p.Arg368Gln		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.R368Q	ENST00000397224.4	37	c.1103	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454642	0.26161	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.13778	2.56;2.56;2.56	5.56	-0.111	0.13576	.	0.316239	0.36409	N	0.002620	T	0.08268	0.0206	L	0.40543	1.245	0.20074	N	0.999934	P	0.36660	0.564	B	0.21917	0.037	T	0.23511	-1.0186	10	0.34782	T	0.22	-1.6475	10.5753	0.45223	0.0:0.1577:0.0:0.8423	.	368	Q8IWF2	FXRD2_HUMAN	Q	368	ENSP00000380401:R368Q;ENSP00000216187:R368Q;ENSP00000380400:R368Q	ENSP00000216187:R368Q	R	-	2	0	FOXRED2	35227347	0.992000	0.36948	0.235000	0.24058	0.034000	0.12701	0.366000	0.20365	-0.219000	0.10003	0.655000	0.94253	CGA	FOXRED2	-	NULL	ENSG00000100350		0.527	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	-	0	69	0	C	NM_024955		36897401	-1	tier1	-	no_errors	ENST00000216187	ensembl	human	known	74_37	missense	16.28	34	7	SNP	0.957	T	T	36897401	C	T	36897401	3	4	87	1	0	0	0	0	1	0	0	0	6058	884	31	1	971	1	FOXRED2	22	36897401	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4016284	36897401	14407165	1956	25080											
SSTR3	6753	genome.wustl.edu	37	chr22	37602691	37602691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgggcggccgctcctgCccgctggtgccaggctgcgt	1	8	16	16	4	0	0	0	0	0	0	1	0	1	0	4	4	4	4	4	4	0	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:37602691C>T	ENST00000328544.3	-	2	1685	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	SSTR3_ENST00000402501.1_Silent_p.G384G	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	384					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	GCCGCTCCTGCCCGCTGGTGC	0.662																																																	0													46	44	45					22																	37602691		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"GPCR / Class A : Somatostatin receptors"	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1152G>A	22.37:g.37602691C>T			A8K550|Q53ZR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt	p.G384	ENST00000328544.3	37	c.1152	CCDS13944.1	22																																																																																			SSTR3	-	NULL	ENSG00000183473		0.662	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR3	HGNC	protein_coding	OTTHUMT00000318802.1	-	0	93	0	C			37602691	-1	tier1	-	no_errors	ENST00000328544	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.013	T	T	37602691	C	T	37602691	2	4	87	1	0	0	0	0	0	0	0	1	15246	726	26	3		3	SSTR3	22	37602691	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	705290	37602691	13701875	1957	25081											
GGA1	26088	genome.wustl.edu	37	chr22	38019411	38019411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgtgaaactgctcacGgagatggtgatgagccacag	14	7	12	8	1	1	4	1	3	0	1	1	5	1	4	1	2	4	1	1	2	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:38019411G>A	ENST00000343632.4	+	8	1073	c.687G>A	c.(685-687)acG>acA	p.T229T	GGA1_ENST00000381756.5_Silent_p.T246T|GGA1_ENST00000325180.8_Silent_p.T229T|GGA1_ENST00000406772.1_Silent_p.T156T|GGA1_ENST00000337437.4_Silent_p.T196T	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	229	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AACTGCTCACGGAGATGGTGA	0.607											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													173	145	155					22																	38019411		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.687G>A	22.37:g.38019411G>A		875	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Silent	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.T229	ENST00000343632.4	37	c.687	CCDS13951.1	22																																																																																			GGA1	-	pfam_GAT,pfscan_GAT	ENSG00000100083		0.607	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	-	0	38	0	G	NM_013365		38019411	1	tier1	-	no_errors	ENST00000343632	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.001	A	A	38019411	G	A	38019411	2	1	87	1	0	0	0	0	0	0	0	1	6378	1103	39	1		1	GGA1	22	38019411	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	416720	38019411	13285155	1958	25082											
TRIOBP	11078	genome.wustl.edu	37	chr22	38122337	38122337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggggctcagcgcctccCggggagaccaggcacaactt	7	5	13	16	3	1	1	1	0	0	1	3	2	3	1	4	5	2	2	4	5	1	1	rs377749969		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:38122337C>T	ENST00000406386.3	+	7	4029	c.3774C>T	c.(3772-3774)ccC>ccT	p.P1258P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1258					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAGCGCCTCCCGGGGAGACCA	0.721																																																	0								T		3,3803		0,3,1900	17	22	20		3774	-8.8	0.1	22		20	0,8150		0,0,4075	no	coding-synonymous	TRIOBP	NM_001039141.2		0,3,5975	TT,TC,CC		0.0,0.0788,0.0251		1258/2366	38122337	3,11953	1903	4075	5978	SO:0001819	synonymous_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3774C>T	22.37:g.38122337C>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P1258	ENST00000406386.3	37	c.3774	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.721	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0	86	0	C			38122337	1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	silent	16.67	65	13	SNP	0.068	T	T	38122337	C	T	38122337	2	4	87	1	0	0	0	0	0	0	0	1	16601	639	23	1		1	TRIOBP	22	38122337	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	102926	38122337	13182229	1959	25083											
TRIOBP	11078	genome.wustl.edu	37	chr22	38129304	38129304	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgcatttgctcataGgaagtccgaggcagcggggg	8	8	17	8	2	1	0	1	0	0	0	2	2	2	1	1	5	3	4	1	5	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:38129304G>T	ENST00000406386.3	+	8	4202		c.e8-1			NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTTGCTCATAGGAAGTCCGAG	0.647																																																	0													8	13	11					22																	38129304		1844	3871	5715	SO:0001630	splice_region_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3948-1G>T	22.37:g.38129304G>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Splice_Site	SNP	-	e6-1	ENST00000406386.3	37	c.3948-1	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232876	0.79688	.	.	ENSG00000100106	ENST00000406386	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9291	0.86184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIOBP	36459250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.662000	0.68032	2.779000	0.95612	0.655000	0.94253	.	TRIOBP	-	-	ENSG00000100106		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0	83	0	G		Intron	38129304	1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	splice_site	17.50	66	14	SNP	1.000	T	T	38129304	G	T	38129304	5	4	87	1	0	0	0	0	0	0	1	0	16601	1014	35	3	3969	3	TRIOBP	22	38129304	Splice_Site	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6967	38129304	13175262	1960	25084											
CBX6	23466	genome.wustl.edu	37	chr22	39262968	39262968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccgcggcttcaccttgCggttgatgatgcgcaccgtc	4	10	12	15	5	1	2	1	2	0	0	3	2	2	2	3	2	2	4	3	2	0	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:39262968C>T	ENST00000407418.3	-	5	608	c.485G>A	c.(484-486)cGc>cAc	p.R162H	CBX6_ENST00000216083.6_Missense_Mutation_p.R144H			O95503	CBX6_HUMAN	chromobox homolog 6	162					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTTCACCTTGCGGTTGATGAT	0.731																																																	0													11	12	12					22																	39262968		2167	4238	6405	SO:0001583	missense	0				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.485G>A	22.37:g.39262968C>T	ENSP00000384490:p.Arg162His		A8KAH0|Q96EM5	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.R162H	ENST00000407418.3	37	c.485	CCDS13980.1	22	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042209	0.55003	.	.	ENSG00000183741	ENST00000407418;ENST00000216083	.	.	.	4.34	3.33	0.38152	.	0.431976	0.19405	N	0.115070	T	0.37156	0.0993	L	0.34521	1.04	0.49389	D	0.999789	P	0.51537	0.946	B	0.36418	0.224	T	0.30090	-0.9990	9	0.51188	T	0.08	.	12.181	0.54211	0.0:0.9167:0.0:0.0833	.	162	O95503	CBX6_HUMAN	H	162;144	.	ENSP00000216083:R144H	R	-	2	0	CBX6	37592914	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	6.755000	0.74914	1.050000	0.40346	0.407000	0.27541	CGC	CBX6	-	NULL	ENSG00000183741		0.731	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1	-	0	69	0	C	NM_014292		39262968	-1	tier1	-	no_errors	ENST00000407418	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	T	T	39262968	C	T	39262968	3	4	87	1	0	0	0	0	1	0	0	0	2729	768	27	1	757	1	CBX6	22	39262968	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1133664	39262968	12041598	1961	25085											
PDGFB	5155	genome.wustl.edu	37	chr22	39626130	39626130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcttcgggtcacaggcCgtgcagctgccactgtctca	5	8	13	15	3	2	0	2	0	1	0	4	0	2	0	3	3	3	3	3	3	0	1	rs146204796	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:39626130C>T	ENST00000331163.6	-	5	1347	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	PDGFB_ENST00000381551.4_Missense_Mutation_p.R172Q	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	187					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					GGTCACAGGCCGTGCAGCTGC	0.617			T	COL1A1	DFSP								C|||	2	0.000399361	0.0015	0	5008	,	,		14595	0		0	False		,,,				2504	0							Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0								C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	59	59	59		560,515	3.6	0.1	22	dbSNP_134	59	0,8600		0,0,4300	no	missense,missense	PDGFB	NM_002608.2,NM_033016.2	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	187/242,172/227	39626130	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"oncogene SIS", "becaplermin"	190040	"platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.560G>A	22.37:g.39626130C>T	ENSP00000330382:p.Arg187Gln		G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP	pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.R187Q	ENST00000331163.6	37	c.560	CCDS13987.1	22	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.17	3.565045	0.65651	4.54E-4	0.0	ENSG00000100311	ENST00000331163;ENST00000381551	T;T	0.44083	0.93;0.94	4.65	3.61	0.41365	.	3.738860	0.02873	U	0.131873	T	0.24470	0.0593	N	0.19112	0.55	0.09310	N	0.999994	P;P	0.39352	0.513;0.669	B;B	0.25291	0.033;0.059	T	0.15694	-1.0428	10	0.27785	T	0.31	-19.4671	6.2833	0.21019	0.0:0.6893:0.2081:0.1026	.	187;172	P01127;G3XAG8	PDGFB_HUMAN;.	Q	187;172	ENSP00000330382:R187Q;ENSP00000370963:R172Q	ENSP00000330382:R187Q	R	-	2	0	PDGFB	37956076	0.004000	0.15560	0.133000	0.22050	0.721000	0.41392	0.282000	0.18829	2.308000	0.77769	0.561000	0.74099	CGG	PDGFB	-	NULL	ENSG00000100311		0.617	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFB	HGNC	protein_coding	OTTHUMT00000321043.1		0	80	0	C	NM_002608		39626130	-1			no_errors	ENST00000331163	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.101	T	T	39626130	C	T	39626130	3	4	87	1	0	0	0	0	1	0	0	0	11697	652	23	1	173	1	PDGFB	22	39626130	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	363162	39626130	11678436	1962	25086											
CACNA1I	8911	genome.wustl.edu	37	chr22	40060801	40060801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacgcagcagctggaacGtgctggatggctttcttgtc	7	11	12	11	2	1	0	0	0	1	0	2	2	1	2	1	3	5	5	1	3	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:40060801G>A	ENST00000402142.3	+	21	3724	c.3724G>A	c.(3724-3726)Gtg>Atg	p.V1242M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.V1207M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1207M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V1207M|CACNA1I_ENST00000336649.4_Missense_Mutation_p.V1248M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V1242M	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1242					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTGGAACGTGCTGGATGG	0.667																																																	0													58	64	62					22																	40060801		2111	4230	6341	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3724G>A	22.37:g.40060801G>A	ENSP00000385019:p.Val1242Met		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.V1248M	ENST00000402142.3	37	c.3742	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877048	0.72180	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	4.3	3.19	0.36642	Ion transport (1);	0.275238	0.32918	N	0.005500	D	0.98676	0.9556	M	0.82923	2.615	0.34677	D	0.724326	D;D;D;D	0.71674	0.961;0.993;0.993;0.998	P;P;P;D	0.70935	0.511;0.759;0.759;0.971	D	0.99886	1.1122	10	0.72032	D	0.01	.	5.3063	0.15805	0.4001:0.0:0.5999:0.0	.	1207;1242;1207;1242	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	M	1242;1207;1242;1207;1248;1207	ENSP00000385019:V1242M;ENSP00000384093:V1207M;ENSP00000383887:V1242M;ENSP00000385680:V1207M;ENSP00000337829:V1248M;ENSP00000383028:V1207M	ENSP00000337829:V1248M	V	+	1	0	CACNA1I	38390747	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.035000	0.49759	1.950000	0.56595	0.462000	0.41574	GTG	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.667	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0	45	0	G	NM_001003406		40060801	1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	23.21	43	13	SNP	1.000	A	A	40060801	G	A	40060801	3	1	87	1	0	0	0	0	1	0	0	0	2553	1145	40	1	3806	1	CACNA1I	22	40060801	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	434671	40060801	11243765	1963	25087											
FAM83F	113828	genome.wustl.edu	37	chr22	40417669	40417670	+	Frame_Shift_Ins	INS	-	-	C																															ttacggtggagcaggtgctgINSccccccgtggagcccatccc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:40417669_40417670insC	ENST00000333407.6	+	4	1249_1250	c.1155_1156insC	c.(1156-1158)cccfs	p.P386fs	FAM83F_ENST00000473717.1_Frame_Shift_Ins_p.P218fs	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	386										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGCAGGTGCTGCCCCCCGTGGA	0.663																																																	0																																										SO:0001589	frameshift_variant	0				CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1161dupC	22.37:g.40417675_40417675dupC	ENSP00000330432:p.Pro386fs		Q96FD6	Frame_Shift_Ins	INS	pfam_DUF1669	p.V387fs	ENST00000333407.6	37	c.1155_1156	CCDS14000.2	22																																																																																			FAM83F	-	NULL	ENSG00000133477		0.663	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83F	HGNC	protein_coding	OTTHUMT00000319624.3		0	84	0	-	NM_138435		40417670	1	tier1		no_errors	ENST00000333407	ensembl	human	known	74_37	frame_shift_ins	27.85	57	22	INS	0.968:1.000	C	C	40417670	-	C	40417669	7	5	87	1	0	1	1	0	0	0	0	0	5660	1306	46	0	1169	0	FAM83F	22	40417669	Frame_Shift_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	356868	40417669	10886897	1964	25088											
TNRC6B	23112	genome.wustl.edu	37	chr22	40657941	40657941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaatgccaaaagggtggCagtgccgaacggacaaccgc	14	3	12	12	3	0	0	0	0	0	0	0	2	0	1	3	3	5	1	3	3	6	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:40657941C>T	ENST00000454349.2	+	4	432	c.221C>T	c.(220-222)gCa>gTa	p.A74V	TNRC6B_ENST00000335727.9_Missense_Mutation_p.A74V|TNRC6B_ENST00000402203.1_Missense_Mutation_p.A110V|TNRC6B_ENST00000301923.9_Missense_Mutation_p.A110V	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	74	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						AAAAGGGTGGCAGTGCCGAAC	0.587																																																	0													22	27	25					22																	40657941		1967	4143	6110	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.221C>T	22.37:g.40657941C>T	ENSP00000401946:p.Ala74Val		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.A74V	ENST00000454349.2	37	c.221	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.615057	0.96649	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.46889	0.1416	L	0.42245	1.32	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.77557	0.956;0.99;0.99	T	0.22836	-1.0205	10	0.56958	D	0.05	-6.1862	20.3213	0.98679	0.0:1.0:0.0:0.0	.	74;74;110	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	V	110;110;74;74;74	ENSP00000306759:A110V;ENSP00000384795:A110V;ENSP00000401946:A74V;ENSP00000338371:A74V	ENSP00000306759:A110V	A	+	2	0	TNRC6B	38987887	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.260000	0.78391	2.810000	0.96702	0.650000	0.86243	GCA	TNRC6B	-	NULL	ENSG00000100354		0.587	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		-	0	143	0	C			40657941	1	tier1	-	no_errors	ENST00000454349	ensembl	human	known	74_37	missense	11.11	144	18	SNP	1.000	T	T	40657941	C	T	40657941	3	4	87	1	0	0	0	0	1	0	0	0	16388	710	25	3	356	3	TNRC6B	22	40657941	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	240272	40657941	10646625	1965	25089											
EP300	2033	genome.wustl.edu	37	chr22	41513396	41513396	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgggagttggtggcccAggtcaagtcatggccagcca	10	8	14	9	0	2	0	2	0	0	0	2	1	2	1	3	5	1	1	3	5	3	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:41513396A>G	ENST00000263253.7	+	2	1519	c.300A>G	c.(298-300)ccA>ccG	p.P100P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	100	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTGGTGGCCCAGGTCAAGTCA	0.493			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													97	94	95					22																	41513396		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.300A>G	22.37:g.41513396A>G			B1AKC2	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.P100	ENST00000263253.7	37	c.300	CCDS14010.1	22																																																																																			EP300	-	NULL	ENSG00000100393		0.493	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	61	0	A	NM_001429		41513396	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	silent	20.45	35	9	SNP	0.995	G	G	41513396	A	G	41513396	2	3	87	1	0	0	0	0	0	0	0	1	5164	175	7	4		4	EP300	22	41513396	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	855455	41513396	9791170	1966	25090											
FAM109B	150368	genome.wustl.edu	37	chr22	42473377	42473377	+	Frame_Shift_Del	DEL	G	G	-																															catgggcttcctgcgcacctGggggggcccagggaccccac																								rs200775641	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:42473377delG	ENST00000321753.3	+	3	267	c.80delG	c.(79-81)tggfs	p.W27fs	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	27	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CTGCGCACCTGGGGGGGCCCA	0.632													GGGGGGG|GGGGGGG|GGGGGG|deletion	11	0.00219649	0.0076	0.0014	5008	,	,		17863	0		0	False		,,,				2504	0																0										145,4119		51,43,2038	51	57	55			4.5	1	22		55	17,8235		1,15,4110	no	frameshift	FAM109B	NM_001002034.2		52,58,6148	A1A1,A1R,RR		0.206,3.4006,1.2943			42473377	162,12354	2203	4299	6502	SO:0001589	frameshift_variant	0			BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"Pleckstrin homology (PH) domain containing"	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.80delG	22.37:g.42473377delG	ENSP00000312753:p.Trp27fs		Q3SXQ3|Q8N6L9	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G29fs	ENST00000321753.3	37	c.80	CCDS33655.1	22																																																																																			FAM109B	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000177096		0.632	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM109B	HGNC	protein_coding	OTTHUMT00000322084.1		0	73	0	G	NM_001002034		42473377	1	tier1		no_errors	ENST00000321753	ensembl	human	known	74_37	frame_shift_del	17.24	48	10	DEL	1.000	-	-	42473377	G	-	42473377	7	5	87	1	0	1	0	1	0	0	0	0	5414	1357	47	0	82	0	FAM109B	22	42473377	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	959981	42473377	8831189	1967	25091											
CYP2D6	1565	genome.wustl.edu	37	chr22	42524306	42524306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggaagcgtaggaccttgCcagccagcgctgggatatgc	8	9	14	10	2	0	0	0	0	0	0	0	3	0	3	3	3	5	2	3	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:42524306C>T	ENST00000360608.5	-	5	827	c.713G>A	c.(712-714)gGc>gAc	p.G238D	CYP2D6_ENST00000389970.3_Missense_Mutation_p.G238D|CYP2D6_ENST00000359033.4_Missense_Mutation_p.G187D|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000417327.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	238					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TAGGACCTTGCCAGCCAGCGC	0.607																																																	0													61	54	57					22																	42524306		2199	4300	6499	SO:0001583	missense	0			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"Cytochrome P450s"	2625	protein-coding gene	gene with protein product		124030	"cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6", "cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2", "cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2", "cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2", "cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.713G>A	22.37:g.42524306C>T	ENSP00000353820:p.Gly238Asp		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.G238D	ENST00000360608.5	37	c.713	CCDS46721.1	22	.	.	.	.	.	.	.	.	.	.	C	3.206	-0.162707	0.06502	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.79247	-1.25;-1.25;-0.37	4.55	-9.09	0.00717	.	1.896570	0.02214	N	0.063399	T	0.45895	0.1365	N	0.04018	-0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.52079	-0.8623	10	0.05721	T	0.95	.	4.9434	0.13976	0.0903:0.2197:0.1105:0.5796	.	187;238	Q6NXU8;Q6NWU0	.;.	D	238;238;184;187;187	ENSP00000353820:G238D;ENSP00000374620:G238D;ENSP00000351927:G187D	ENSP00000351927:G187D	G	-	2	0	CYP2D6	40854250	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.478000	0.02329	-1.290000	0.02372	-0.350000	0.07774	GGC	CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000100197		0.607	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1		0	53	0	C			42524306	-1			no_errors	ENST00000360608	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	42524306	C	T	42524306	3	4	87	1	0	0	0	0	1	0	0	0	4178	739	26	3	800	3	CYP2D6	22	42524306	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	50929	42524306	8780260	1968	25092											
TCF20	6942	genome.wustl.edu	37	chr22	42564716	42564716	+	Frame_Shift_Del	DEL	G	G	-																															ttcgcggtcttgttctgcaaGggggggagagggcacggaag																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:42564716delG	ENST00000359486.3	-	4	5962	c.5826delC	c.(5824-5826)cccfs	p.P1942fs	TCF20_ENST00000404876.1_Intron|TCF20_ENST00000335626.4_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1942					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TGTTCTGCAAGGGGGGGAGAG	0.617											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36	35	35					22																	42564716		2203	4300	6503	SO:0001589	frameshift_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"stromelysin-1 platelet-derived growth factor-responsive element binding protein"	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5826delC	22.37:g.42564716delG	ENSP00000352463:p.Pro1942fs	909	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Del	DEL	smart_Znf_PHD	p.L1943fs	ENST00000359486.3	37	c.5826	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.617	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1		0	51	0	G	NM_181492		42564716	-1	tier1		no_errors	ENST00000359486	ensembl	human	known	74_37	frame_shift_del	16.07	47	9	DEL	1.000	-	-	42564716	G	-	42564716	7	5	87	1	0	1	0	1	0	0	0	0	15737	987	35	0	82	0	TCF20	22	42564716	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	40410	42564716	8739850	1969	25093											
MPPED1	758	genome.wustl.edu	37	chr22	43870648	43870648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgagtacaagatcgtgatcGcaggcaaccacgagctgacc	13	5	11	12	4	0	3	0	2	0	1	2	5	0	3	2	1	3	4	2	1	3	1	rs530556930		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:43870648G>A	ENST00000417669.2	+	4	883	c.439G>A	c.(439-441)Gca>Aca	p.A147T	MPPED1_ENST00000542779.1_Missense_Mutation_p.A147T|MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000443721.1_Missense_Mutation_p.A147T|MPPED1_ENST00000538182.1_Missense_Mutation_p.A180T|MPPED1_ENST00000414469.2_Missense_Mutation_p.A41T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	147							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GATCGTGATCGCAGGCAACCA	0.567																																																	0													128	130	130					22																	43870648		2114	4245	6359	SO:0001583	missense	0			U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"chromosome 22 open reading frame 1"	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.439G>A	22.37:g.43870648G>A	ENSP00000388137:p.Ala147Thr		A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	pfam_PEstase_dom	p.A180T	ENST00000417669.2	37	c.538	CCDS46723.1	22	.	.	.	.	.	.	.	.	.	.	G	34	5.399282	0.96030	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000542779;ENST00000538182	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	5.08	5.08	0.68730	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.92763	0.7699	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93528	0.6867	10	0.66056	D	0.02	-38.2618	18.5263	0.90974	0.0:0.0:1.0:0.0	.	180;147	B7Z2S9;O15442	.;MPPD1_HUMAN	T	147;147;125;41;147;180	ENSP00000388137:A147T;ENSP00000400686:A147T;ENSP00000388245:A41T;ENSP00000444532:A147T;ENSP00000438335:A180T	ENSP00000388245:A41T	A	+	1	0	MPPED1	42200592	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.457000	0.97630	2.365000	0.80145	0.551000	0.68910	GCA	MPPED1	-	pfam_PEstase_dom	ENSG00000186732		0.567	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED1	HGNC	protein_coding	OTTHUMT00000318938.2	-	0	39	0	G	NM_001044370		43870648	1	tier1	-	no_errors	ENST00000538182	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	A	A	43870648	G	A	43870648	3	1	87	1	0	0	0	0	1	0	0	0	9779	1087	38	1	449	1	MPPED1	22	43870648	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1305932	43870648	7433918	1970	25094											
KIAA1644	85352	genome.wustl.edu	37	chr22	44692715	44692715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagccaaagtggtagcGgcctttgtggtctgtgtatg	7	12	16	6	1	1	0	0	0	1	0	1	1	1	1	2	4	2	2	2	4	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:44692715G>A	ENST00000381176.4	-	3	250	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	40						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AAGTGGTAGCGGCCTTTGTGG	0.547																																																	0													133	150	144					22																	44692715		2084	4223	6307	SO:0001583	missense	0			AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.118C>T	22.37:g.44692715G>A	ENSP00000370568:p.Arg40Cys		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Missense_Mutation	SNP	NULL	p.R40C	ENST00000381176.4	37	c.118	CCDS43025.1	22	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335742	0.81801	.	.	ENSG00000138944	ENST00000381176	.	.	.	5.27	5.27	0.74061	.	0.111895	0.64402	D	0.000007	T	0.62417	0.2426	L	0.29908	0.895	0.43782	D	0.996317	D	0.71674	0.998	P	0.56916	0.809	T	0.69514	-0.5125	8	0.87932	D	0	-37.5203	17.8688	0.88804	0.0:0.0:1.0:0.0	.	40	Q3SXP7	K1644_HUMAN	C	40	.	ENSP00000370568:R40C	R	-	1	0	KIAA1644	43024048	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.305000	0.78891	2.443000	0.82685	0.561000	0.74099	CGC	KIAA1644	-	NULL	ENSG00000138944		0.547	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1644	HGNC	protein_coding	OTTHUMT00000075879.2	-	0	45	0	G	NM_001099294		44692715	-1	tier1	-	no_errors	ENST00000381176	ensembl	human	putative	74_37	missense	17.02	39	8	SNP	1.000	A	A	44692715	G	A	44692715	3	1	87	1	0	0	0	0	1	0	0	0	8277	1116	39	1	493	1	KIAA1644	22	44692715	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	822067	44692715	6611851	1971	25095											
PKDREJ	10343	genome.wustl.edu	37	chr22	46658462	46658462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtactgggcgatggcgCgcgcggccgggcagtccagc	5	4	18	14	6	0	0	0	0	0	0	1	1	1	0	3	4	2	2	3	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:46658462C>T	ENST00000253255.5	-	1	757	c.758G>A	c.(757-759)cGc>cAc	p.R253H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	253	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGCGATGGCGCGCGCGGCCGG	0.697																																																	0													24	30	28					22																	46658462		2198	4294	6492	SO:0001583	missense	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like", "polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like", "polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.758G>A	22.37:g.46658462C>T	ENSP00000253255:p.Arg253His		B1AJY3|O95850	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2	p.R253H	ENST00000253255.5	37	c.758	CCDS14073.1	22	.	.	.	.	.	.	.	.	.	.	C	1.203	-0.631947	0.03584	.	.	ENSG00000130943	ENST00000253255	T	0.67698	-0.28	4.08	-8.17	0.01057	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	4.304220	0.00508	N	0.000173	T	0.41190	0.1148	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35325	-0.9793	10	0.13470	T	0.59	4.6661	3.5783	0.07942	0.5499:0.1961:0.0822:0.1717	.	253	Q9NTG1	PKDRE_HUMAN	H	253	ENSP00000253255:R253H	ENSP00000253255:R253H	R	-	2	0	PKDREJ	45037126	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.759000	0.01808	-4.986000	0.00025	-2.138000	0.00339	CGC	PKDREJ	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000130943		0.697	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	-	0	38	0	C	NM_006071		46658462	-1	tier1	-	no_errors	ENST00000253255	ensembl	human	known	74_37	missense	21.62	29	8	SNP	0.000	T	T	46658462	C	T	46658462	3	4	87	1	0	0	0	0	1	0	0	0	12009	768	27	1	6007	1	PKDREJ	22	46658462	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1965747	46658462	4646104	1972	25096											
GTSE1	51512	genome.wustl.edu	37	chr22	46711989	46711989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcctctgtcaaacatcaGcaagtcaggcagaatgggac	12	6	11	12	1	4	1	3	0	1	1	4	2	4	2	2	3	2	2	2	3	3	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:46711989G>T	ENST00000454366.1	+	7	1324	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	352					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCAAACATCAGCAAGTCAGGC	0.507																																					GBM(153;542 1915 12487 29016 50495)												0													41	47	45					22																	46711989		2202	4299	6501	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1112G>T	22.37:g.46711989G>T	ENSP00000415430:p.Ser371Ile		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.S371I	ENST00000454366.1	37	c.1112	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601329	0.46423	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.08634	3.07	4.53	2.35	0.29111	.	0.501906	0.23234	N	0.050424	T	0.07143	0.0181	L	0.42245	1.32	0.20563	N	0.999883	B	0.32031	0.352	B	0.25291	0.059	T	0.25187	-1.0139	10	0.87932	D	0	-3.0106	8.3264	0.32160	0.0846:0.0:0.7602:0.1552	.	352	Q9NYZ3	GTSE1_HUMAN	I	371;331	ENSP00000415430:S371I	ENSP00000354634:S331I	S	+	2	0	GTSE1	45090653	0.008000	0.16893	0.009000	0.14445	0.029000	0.11900	0.971000	0.29396	0.571000	0.29365	0.650000	0.86243	AGC	GTSE1	-	NULL	ENSG00000075218		0.507	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	-	0	58	0	G	NM_016426		46711989	1	tier1	-	no_errors	ENST00000454366	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.117	T	T	46711989	G	T	46711989	3	4	87	1	0	0	0	0	1	0	0	0	6912	971	34	3	1134	3	GTSE1	22	46711989	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	53527	46711989	4592577	1973	25097											
ACR	49	genome.wustl.edu	37	chr22	51183225	51183225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctatctgaactggatcGcctccaagattggttctaac	9	11	9	12	1	2	2	0	1	2	1	4	3	3	3	3	3	2	1	3	3	4	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:51183225G>A	ENST00000216139.5	+	5	896	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	286	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGATCGCCTCCAAGAT	0.622																																																	0													18	18	18					22																	51183225		2195	4271	6466	SO:0001583	missense	0			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.856G>A	22.37:g.51183225G>A	ENSP00000216139:p.Ala286Thr		Q6ICK2	Missense_Mutation	SNP	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.A286T	ENST00000216139.5	37	c.856	CCDS14101.1	22	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659600	0.47467	.	.	ENSG00000100312	ENST00000216139	T	0.59083	0.29	3.88	2.78	0.32641	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.183072	0.26711	N	0.022891	T	0.46870	0.1415	N	0.05592	-0.015	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.40021	-0.9585	10	0.13108	T	0.6	-4.4611	5.62	0.17451	0.1577:0.0:0.8423:0.0	.	286	P10323	ACRO_HUMAN	T	286	ENSP00000216139:A286T	ENSP00000216139:A286T	A	+	1	0	ACR	49530091	0.133000	0.22466	1.000000	0.80357	0.412000	0.31113	1.275000	0.33144	1.997000	0.58415	0.305000	0.20034	GCC	ACR	-	pirsf_Pept_S1A_acrosin,superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1	ENSG00000100312		0.622	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2	-	0	84	0	G	NM_001097		51183225	1	tier1	-	no_errors	ENST00000216139	ensembl	human	known	74_37	missense	13.24	59	9	SNP	0.996	A	A	51183225	G	A	51183225	3	1	87	1	0	0	0	0	1	0	0	0	169	1087	38	1	874	1	ACR	22	51183225	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4471236	51183225	121341	1974	25098											
ACR	49	genome.wustl.edu	37	chr22	51183254	51183255	+	Frame_Shift_Del	DEL	TA	TA	-																															attggttctaacgctttgcgTatgattcaatcggccacccc																								rs5771002	byFrequency	TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chr22:51183254_51183255delTA	ENST00000216139.5	+	5	925_926	c.885_886delTA	c.(883-888)cgtatgfs	p.M296fs	AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	296				M -> V (in Ref. 6; CAG30252). {ECO:0000305}.	acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCTTTGCGTATGATTCAATC	0.604																																																	0																																										SO:0001589	frameshift_variant	0			CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"preproacrosin", "acrosin light and heavy chain prepropeptide"	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.885_886delTA	22.37:g.51183254_51183255delTA	ENSP00000216139:p.Met296fs		Q6ICK2	Frame_Shift_Del	DEL	pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.M296fs	ENST00000216139.5	37	c.885_886	CCDS14101.1	22																																																																																			ACR	-	pirsf_Pept_S1A_acrosin	ENSG00000100312		0.604	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ACR	HGNC	protein_coding	OTTHUMT00000316605.2		0	76	0	TA	NM_001097		51183255	1	tier1		no_errors	ENST00000216139	ensembl	human	known	74_37	frame_shift_del	18.92	60	14	DEL	0.000:0.001	-	-	51183255	TA	-	51183254	7	5	87	1	0	1	0	1	0	0	0	0	169	1625	57	0	903	0	ACR	22	51183254	Frame_Shift_Del	DEL	TA	TCGA-L5-A8NM-01A-11D-A37C-09	29	51183254	121312	1975	25099											
CSF2RA	1438	genome.wustl.edu	37	chrX	1424391	1424391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacagatcaaagacaaaCtgaatgataaccatgaggtg	17	8	8	8	0	1	5	1	3	0	2	2	5	2	5	2	1	2	0	2	1	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:1424391C>T	ENST00000381524.3	+	12	1282	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	CSF2RA_ENST00000432318.2_Silent_p.L366L|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000381509.3_Silent_p.L366L|CSF2RA_ENST00000361536.3_Silent_p.N333N|CSF2RA_ENST00000355805.2_Silent_p.N233N|CSF2RA_ENST00000381529.3_Silent_p.L366L|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Silent_p.N333N|CSF2RA_ENST00000501036.2_Silent_p.L233L|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Silent_p.L400L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	366					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAAGACAAACTGAATGATAA	0.562																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0													188	167	174					X																	1424391		2203	4296	6499	SO:0001819	synonymous_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.1096C>T	X.37:g.1424391C>T			A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.L400	ENST00000381524.3	37	c.1198	CCDS35191.1	X																																																																																			CSF2RA	-	NULL	ENSG00000198223		0.562	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	-	0	175	0	C			1424391	1	tier1	-	no_errors	ENST00000417535	ensembl	human	known	74_37	silent	16.98	88	18	SNP	0.003	T	T	1424391	C	T	1424391	2	4	87	1	0	0	0	0	0	0	0	1	3943	564	20	3		3	CSF2RA	23	1424391	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09		1424391	153846169	1976	25100											
P2RY8	286530	genome.wustl.edu	37	chrX	1584894	1584894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacggcccacatggccacGctggggagcatcgtccactt	9	6	11	15	3	0	0	0	0	0	0	2	1	1	1	3	4	2	2	3	4	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:1584894G>A	ENST00000381297.4	-	2	768	c.558C>T	c.(556-558)agC>agT	p.S186S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACATGGCCACGCTGGGGAGCA	0.627			T	CRLF2	"B-ALL, Downs associated ALL"																																			Dom	yes		"X,Y"	Xp22.3; Yp11.3	286530	"purinergic receptor P2Y, G-protein coupled, 8"		L	0													129	76	94					X																	1584894		2203	4295	6498	SO:0001819	synonymous_variant	0			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"Pseudoautosomal regions / PAR1", "Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.558C>T	X.37:g.1584894G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.S186	ENST00000381297.4	37	c.558	CCDS14115.1	X																																																																																			P2RY8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182162		0.627	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY8	HGNC	protein_coding	OTTHUMT00000055602.1	-	0	56	0	G	NM_178129		1584894	-1	tier1	-	no_errors	ENST00000381297	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.174	A	A	1584894	G	A	1584894	2	1	87	1	0	0	0	0	0	0	0	1	11394	1078	38	1		1	P2RY8	23	1584894	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	160503	1584894	153685666	1977	25101											
ASMT	438	genome.wustl.edu	37	chrX	1761874	1761874	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtttaagaaaacaggAgccatttatgatgccatttt	13	14	7	7	0	0	2	0	1	0	1	1	3	1	3	3	1	3	1	3	1	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:1761874A>G	ENST00000381229.4	+	8	1041	c.1005A>G	c.(1003-1005)ggA>ggG	p.G335G	ASMT_ENST00000381233.3_Silent_p.G288G|ASMT_ENST00000381241.3_Silent_p.G363G			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	335					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AGAAAACAGGAGCCATTTATG	0.458																																																	0													175	164	168					X																	1761874		2203	4296	6499	SO:0001819	synonymous_variant	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.1005A>G	X.37:g.1761874A>G			B2RC33|Q16598|Q5JQ72|Q5JQ73	Silent	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.G363	ENST00000381229.4	37	c.1089		X																																																																																			ASMT	-	pirsf_COMT	ENSG00000196433		0.458	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0	150	0	A	NM_004043		1761874	1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	silent	7.41	100	8	SNP	0.762	G	G	1761874	A	G	1761874	2	3	87	1	0	0	0	0	0	0	0	1	1046	291	11	4		4	ASMT	23	1761874	Silent	SNP	A	TCGA-L5-A8NM-01A-11D-A37C-09	176980	1761874	153508686	1978	25102											
XG	7499	genome.wustl.edu	37	chrX	2670327	2670327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcaaaccatggagagctgGtggggacttccctgtcttgc	9	9	13	10	0	1	1	0	0	1	1	2	3	2	2	2	4	4	2	2	4	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:2670327G>C	ENST00000381174.5	+	1	237	c.12G>C	c.(10-12)tgG>tgC	p.W4C	XG_ENST00000426774.1_Missense_Mutation_p.W4C|XG_ENST00000419513.2_Missense_Mutation_p.W4C			P55808	XG_HUMAN	Xg blood group	4						integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGGAGAGCTGGTGGGGACTTC	0.537																																																	0													102	106	105					X																	2670327		2203	4293	6496	SO:0001583	missense	0			AF380356	CCDS14120.1, CCDS48073.1	Xp22.32	2014-07-19	2006-01-12		ENSG00000124343	ENSG00000124343		"Blood group antigens", "Pseudoautosomal regions / PAR1"	12806	protein-coding gene	gene with protein product		300879	"Xg blood group (pseudoautosomal boundary-divided on the X chromosome)"	PBDX		8054981	Standard	NM_175569		Approved		uc004cqp.3	P55808	OTTHUMG00000021075	ENST00000381174.5:c.12G>C	X.37:g.2670327G>C	ENSP00000370566:p.Trp4Cys		E9PCH1|Q496N8|Q496N9|Q496P0|Q71BZ5	Missense_Mutation	SNP	pfam_CD99L2	p.W4C	ENST00000381174.5	37	c.12	CCDS14120.1	X	.	.	.	.	.	.	.	.	.	.	G	8.288	0.817161	0.16607	.	.	ENSG00000124343	ENST00000381174;ENST00000419513;ENST00000426774;ENST00000509484	T;T;T;T	0.63096	-0.01;-0.02;0.03;0.15	1.29	0.325	0.15903	.	1.454510	0.05606	U	0.577297	T	0.43077	0.1231	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.36383	-0.9750	10	0.87932	D	0	.	4.2306	0.10601	0.0:0.0:0.6041:0.3959	.	4;4	P55808;P55808-3	XG_HUMAN;.	C	4	ENSP00000370566:W4C;ENSP00000411004:W4C;ENSP00000398503:W4C;ENSP00000430005:W4C	ENSP00000370566:W4C	W	+	3	0	XG	2680327	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.544000	0.06077	0.045000	0.15804	0.284000	0.19432	TGG	XG	-	NULL	ENSG00000124343		0.537	XG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	XG	HGNC	protein_coding	OTTHUMT00000055633.2	-	0	247	0	G	NM_175569		2670327	1	tier1	-	no_errors	ENST00000419513	ensembl	human	known	74_37	missense	45.68	87	74	SNP	0.000	C	C	2670327	G	C	2670327	3	2	87	1	0	0	0	0	1	0	0	0	17476	1270	44	5	14	5	XG	23	2670327	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	908453	2670327	152600233	1979	25103											
AMELX	265	genome.wustl.edu	37	chrX	11316886	11316886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccaaacctccctccGcccgcccagcagccctacca	9	3	5	24	2	0	0	0	0	0	0	2	0	2	0	9	0	5	1	9	0	2	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:11316886G>A	ENST00000380714.3	+	5	431	c.363G>A	c.(361-363)ccG>ccA	p.P121P	AMELX_ENST00000348912.4_Silent_p.P105P|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000380712.3_Silent_p.P135P|ARHGAP6_ENST00000413512.3_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	121					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ACCTCCCTCCGCCCGCCCAGC	0.662																																																	0													90	78	82					X																	11316886		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"amelogenesis imperfecta 1"	300391	"amelogenin (X chromosome, amelogenesis imperfecta 1)"	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.363G>A	X.37:g.11316886G>A			Q96NW6|Q9UCA7	Silent	SNP	pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin	p.P135	ENST00000380714.3	37	c.405	CCDS14144.1	X																																																																																			AMELX	-	pfam_Amelogenin,smart_Amelogenin	ENSG00000125363		0.662	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMELX	HGNC	protein_coding	OTTHUMT00000055746.1	-	0	208	0	G	NM_001142		11316886	1	tier1	-	no_errors	ENST00000380712	ensembl	human	known	74_37	silent	20.39	80	21	SNP	0.521	A	A	11316886	G	A	11316886	2	1	87	1	0	0	0	0	0	0	0	1	569	1074	38	1		1	AMELX	23	11316886	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	8646559	11316886	143953674	1980	25104											
MSL3	10943	genome.wustl.edu	37	chrX	11783863	11783863	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagtaggttcattctcGggtgccccaggccggggaga	10	7	15	9	2	2	2	1	0	1	2	3	3	2	2	3	5	1	2	3	5	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:11783863G>A	ENST00000312196.4	+	9	1276				MSL3_ENST00000361672.2_Intron|MSL3_ENST00000380693.3_Intron|MSL3_ENST00000467141.1_Intron|MSL3_ENST00000398527.2_Intron|MSL3_ENST00000337339.2_Missense_Mutation_p.G396R	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GTTCATTCTCGGGTGCCCCAG	0.582																																																	0													113	93	100					X																	11783863		2203	4300	6503	SO:0001627	intron_variant	0			AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"male-specific lethal-3 (Drosophila)-like 1", "male-specific lethal 3-like 1 (Drosophila)"	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.1171+15G>A	X.37:g.11783863G>A			A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow	p.G396R	ENST00000312196.4	37	c.1186	CCDS14147.1	X	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986055	0.35036	.	.	ENSG00000005302	ENST00000337339	T	0.07114	3.22	3.02	-3.76	0.04359	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43861	-0.9365	8	.	.	.	.	1.0512	0.01580	0.3489:0.3131:0.1933:0.1447	.	396	A6NHW8	.	R	396	ENSP00000338078:G396R	.	G	+	1	0	MSL3	11693784	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.507000	0.06352	-1.305000	0.02327	-0.192000	0.12808	GGG	MSL3	-	NULL	ENSG00000005302		0.582	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL3	HGNC	protein_coding	OTTHUMT00000055757.1	-	0	45	0	G	NM_006800		11783863	1	tier1	-	no_errors	ENST00000337339	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.000	A	A	11783863	G	A	11783863	1	1	87	0	1	0	0	0	0	0	0	0	9917	1116	39	1		1	MSL3	23	11783863	Intron	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	466977	11783863	143486697	1981	25105											
SH3KBP1	30011	genome.wustl.edu	37	chrX	19560215	19560215	+	Frame_Shift_Del	DEL	G	G	-																															tgttcccaaagaggatgacaGgggggagggcgccgctgagg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:19560215delG	ENST00000397821.3	-	16	2010	c.1720delC	c.(1720-1722)ctgfs	p.L574fs	SH3KBP1_ENST00000379698.4_Frame_Shift_Del_p.L537fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Del_p.L336fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Del_p.L313fs	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	574					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAGGATGACAGGGGGGAGGGC	0.647																																																	0													51	50	50					X																	19560215		2203	4300	6503	SO:0001589	frameshift_variant	0			AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1720delC	X.37:g.19560215delG	ENSP00000380921:p.Leu574fs		B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Frame_Shift_Del	DEL	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.L574fs	ENST00000397821.3	37	c.1720	CCDS14193.1	X																																																																																			SH3KBP1	-	NULL	ENSG00000147010		0.647	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3KBP1	HGNC	protein_coding	OTTHUMT00000055992.1		0	84	0	G	NM_031892		19560215	-1	tier1		no_errors	ENST00000397821	ensembl	human	known	74_37	frame_shift_del	11.29	55	7	DEL	0.002	-	-	19560215	G	-	19560215	7	5	87	1	0	1	0	1	0	0	0	0	14300	991	35	0	289	0	SH3KBP1	23	19560215	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	7776352	19560215	135710345	1982	25106											
KLHL34	257240	genome.wustl.edu	37	chrX	21674919	21674920	+	In_Frame_Ins	INS	-	-	CTC																															acgttctgggtgagctcccaINSctcctcctcctcctcctctt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:21674919_21674920insCTC	ENST00000379499.2	-	1	1528_1529	c.987_988insGAG	c.(985-990)gagtgg>gagGAGtgg	p.329_330insE		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGAGCTCCCActcctcctcct	0.653																																																	0																																										SO:0001652	inframe_insertion	0			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"Kelch-like", "BTB/POZ domain containing"	26634	protein-coding gene	gene with protein product			"kelch-like 34 (Drosophila)"				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.985_987dupGAG	X.37:g.21674926_21674928dupCTC	ENSP00000368813:p.Glu330_Glu331dup			In_Frame_Ins	INS	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.329in_frame_insE	ENST00000379499.2	37	c.988_987	CCDS14199.1	X																																																																																			KLHL34	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000185915		0.653	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1		0	17	0	-	NM_153270		21674920	-1	tier1		no_errors	ENST00000379499	ensembl	human	known	74_37	in_frame_ins	33.33	10	5	INS	0.997:0.870	CTC	CTC	21674920	-	CTC	21674919	7	5	87	1	0	1	1	0	0	0	0	0	8414	159	6	0	950	0	KLHL34	23	21674919	In_Frame_Ins	INS	-	TCGA-L5-A8NM-01A-11D-A37C-09	2114704	21674919	133595641	1983	25107											
POLA1	5422	genome.wustl.edu	37	chrX	24735597	24735597	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggattctgggaaagggacCgtgtcctacttgtaagagca	10	9	14	8	2	1	1	0	0	1	1	2	4	2	4	2	3	2	2	2	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:24735597C>A	ENST00000379059.3	+	9	894	c.879C>A	c.(877-879)acC>acA	p.T293T	POLA1_ENST00000379068.3_Silent_p.T299T	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	293					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	GGAAAGGGACCGTGTCCTACT	0.448																																																	0													96	95	95					X																	24735597		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"DNA polymerases"	9173	protein-coding gene	gene with protein product		312040	"polymerase (DNA directed), alpha", "polymerase (DNA directed), alpha 1", "N syndrome (mental retardation, malformations, chromosome breakage)"	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.879C>A	X.37:g.24735597C>A			Q86UQ7	Silent	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.T299	ENST00000379059.3	37	c.897	CCDS14214.1	X																																																																																			POLA1	-	tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.448	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	-	0	38	0	C	NM_016937		24735597	1	tier1	-	no_errors	ENST00000379068	ensembl	human	known	74_37	silent	28.00	17	7	SNP	0.000	A	A	24735597	C	A	24735597	2	1	87	1	0	0	0	0	0	0	0	1	12226	639	23	2		2	POLA1	23	24735597	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3060678	24735597	130534963	1984	25108											
DMD	1756	genome.wustl.edu	37	chrX	32466646	32466646	+	Frame_Shift_Del	DEL	T	T	-																															tggttagagtttcaagttccTtttttaaggcctcttgtgct																								rs150333718		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:32466646delT	ENST00000357033.4	-	27	3919	c.3713delA	c.(3712-3714)aagfs	p.K1238fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.K1234fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1238					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCAAGTTCCTTTTTTAAGGC	0.438																																																	0													201	158	173					X																	32466646		2202	4299	6501	SO:0001589	frameshift_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3713delA	X.37:g.32466646delT	ENSP00000354923:p.Lys1238fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.K1238fs	ENST00000357033.4	37	c.3713	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.438	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0	72	0	T	NM_004006		32466646	-1	tier1		no_errors	ENST00000357033	ensembl	human	known	74_37	frame_shift_del	14.29	54	9	DEL	1.000	-	-	32466646	T	-	32466646	7	5	87	1	0	1	0	1	0	0	0	0	4594	1609	56	0	7799	0	DMD	23	32466646	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	7731049	32466646	122803914	1985	25109											
DMD	1756	genome.wustl.edu	37	chrX	32717262	32717262	+	Frame_Shift_Del	DEL	A	A	-																															tgcatttgatgatgtaactgAaaatgttcttctttagtcac																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:32717262delA	ENST00000357033.4	-	8	1004	c.798delT	c.(796-798)tttfs	p.F266fs	DMD_ENST00000288447.4_Frame_Shift_Del_p.F258fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.F262fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	266					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GATGTAACTGAAAATGTTCTT	0.373																																																	0													188	150	163					X																	32717262		2202	4300	6502	SO:0001589	frameshift_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.798delT	X.37:g.32717262delA	ENSP00000354923:p.Phe266fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.Q267fs	ENST00000357033.4	37	c.798	CCDS14233.1	X																																																																																			DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0	94	0	A	NM_004006		32717262	-1	tier1		no_errors	ENST00000357033	ensembl	human	known	74_37	frame_shift_del	31.88	47	22	DEL	0.087	-	-	32717262	A	-	32717262	7	5	87	1	0	1	0	1	0	0	0	0	4594	243	9	0	10790	0	DMD	23	32717262	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	250616	32717262	122553298	1986	25110											
DDX3X	1654	genome.wustl.edu	37	chrX	41202035	41202035	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggattaattttgagaaataCgatgacattccagttgaggc	13	12	11	5	1	0	3	0	3	0	1	1	6	1	4	1	2	1	1	1	2	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:41202035C>T	ENST00000399959.2	+	6	1344	c.489C>T	c.(487-489)taC>taT	p.Y163Y	DDX3X_ENST00000542215.1_Silent_p.Y207Y|DDX3X_ENST00000457138.2_Silent_p.Y147Y|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	163	Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTGAGAAATACGATGACATTC	0.368										HNSCC(61;0.18)																																							0													118	102	107					X																	41202035		1974	4169	6143	SO:0001819	synonymous_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.489C>T	X.37:g.41202035C>T			A8K538|B4E3E8|O15536	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y163	ENST00000399959.2	37	c.489	CCDS43931.1	X																																																																																			DDX3X	-	NULL	ENSG00000215301		0.368	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	-	0	74	0	C	NM_024005		41202035	1	tier1	-	no_errors	ENST00000399959	ensembl	human	known	74_37	silent	26.92	38	14	SNP	0.993	T	T	41202035	C	T	41202035	2	4	87	1	0	0	0	0	0	0	0	1	4367	547	19	1		1	DDX3X	23	41202035	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	8484773	41202035	114068525	1987	25111											
FUNDC1	139341	genome.wustl.edu	37	chrX	44401202	44401202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcaccagccagtaacGccacccattacaatctgggt	10	10	7	14	1	2	0	1	0	2	0	3	0	2	0	4	1	3	2	4	1	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:44401202G>A	ENST00000378045.4	-	2	342	c.174C>T	c.(172-174)ggC>ggT	p.G58G	FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1	58					mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGCCAGTAACGCCACCCATTA	0.473																																																	0													67	57	60					X																	44401202		2203	4300	6503	SO:0001819	synonymous_variant	0			BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.174C>T	X.37:g.44401202G>A				Silent	SNP	pfam_FUN14	p.G58	ENST00000378045.4	37	c.174	CCDS14263.1	X																																																																																			FUNDC1	-	pfam_FUN14	ENSG00000069509		0.473	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC1	HGNC	protein_coding	OTTHUMT00000056320.1	-	0	65	0	G	NM_173794		44401202	-1	tier1	-	no_errors	ENST00000378045	ensembl	human	known	74_37	silent	16.67	30	6	SNP	0.589	A	A	44401202	G	A	44401202	2	1	87	1	0	0	0	0	0	0	0	1	6121	1074	38	1		1	FUNDC1	23	44401202	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3199167	44401202	110869358	1988	25112											
ERAS	3266	genome.wustl.edu	37	chrX	48687785	48687785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactggaaggagttgaccctGgacagtggggactgcattct	9	10	14	8	0	1	1	0	1	1	0	1	5	1	5	1	5	2	2	1	5	2	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:48687785G>A	ENST00000338270.1	+	1	503	c.252G>A	c.(250-252)ctG>ctA	p.L84L	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	84					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						AGTTGACCCTGGACAGTGGGG	0.607																																																	0													85	67	73					X																	48687785		2203	4300	6503	SO:0001819	synonymous_variant	0			X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.252G>A	X.37:g.48687785G>A				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L84	ENST00000338270.1	37	c.252	CCDS35246.1	X																																																																																			ERAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000187682		0.607	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAS	HGNC	protein_coding	OTTHUMT00000132402.1	-	0	54	0	G	NM_181532		48687785	1	tier1	-	no_errors	ENST00000338270	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.003	A	A	48687785	G	A	48687785	2	1	87	1	0	0	0	0	0	0	0	1	5221	1335	47	3		3	ERAS	23	48687785	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4286583	48687785	106582775	1989	25113											
CCNB3	85417	genome.wustl.edu	37	chrX	50052616	50052616	+	Frame_Shift_Del	DEL	C	C	-																															agtgtaccattgaggaggcaCcccccaccaagaagccttta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:50052616delC	ENST00000376042.1	+	6	1745	c.1447delC	c.(1447-1449)cccfs	p.P484fs	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Frame_Shift_Del_p.P484fs			Q8WWL7	CCNB3_HUMAN	cyclin B3	484					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGAGGAGGCACCCCCCACCAA	0.463																																																	0													41	40	40					X																	50052616		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1447delC	X.37:g.50052616delC	ENSP00000365210:p.Pro484fs		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Frame_Shift_Del	DEL	pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	p.T485fs	ENST00000376042.1	37	c.1447	CCDS14331.1	X																																																																																			CCNB3	-	NULL	ENSG00000147082		0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1		0	49	0	C			50052616	1	tier1		no_errors	ENST00000276014	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.000	-	-	50052616	C	-	50052616	7	5	87	1	0	1	0	1	0	0	0	0	2921	507	18	0	1461	0	CCNB3	23	50052616	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	1364831	50052616	105217944	1990	25114											
HUWE1	10075	genome.wustl.edu	37	chrX	53570860	53570860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacgtaccatttgtataatgGcatcagcctcagcctccagc	10	10	7	14	1	2	0	2	0	0	0	3	0	3	0	4	1	4	3	4	1	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:53570860G>A	ENST00000342160.3	-	72	11778	c.11321C>T	c.(11320-11322)gCc>gTc	p.A3774V	HUWE1_ENST00000262854.6_Missense_Mutation_p.A3774V|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3774					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGTATAATGGCATCAGCCTC	0.537																																																	0													75	46	56					X																	53570860		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11321C>T	X.37:g.53570860G>A	ENSP00000340648:p.Ala3774Val		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A3774V	ENST00000342160.3	37	c.11321	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	g	14.71	2.617594	0.46736	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.39592	1.07;1.07	5.08	5.08	0.68730	.	0.207171	0.40222	N	0.001159	T	0.52306	0.1726	L	0.34521	1.04	0.80722	D	1	P;D;D	0.67145	0.808;0.993;0.996	B;D;D	0.70935	0.373;0.935;0.971	T	0.46748	-0.9169	10	0.30078	T	0.28	.	16.3992	0.83633	0.0:0.0:1.0:0.0	.	611;3774;3758	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	V	3774	ENSP00000340648:A3774V;ENSP00000262854:A3774V	ENSP00000262854:A3774V	A	-	2	0	HUWE1	53587585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.753000	0.91637	2.126000	0.65437	0.534000	0.68092	GCC	HUWE1	-	NULL	ENSG00000086758		0.537	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	27	0	G	XM_497119		53570860	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	A	A	53570860	G	A	53570860	3	1	87	1	0	0	0	0	1	0	0	0	7488	1203	42	3	1851	3	HUWE1	23	53570860	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3518244	53570860	101699700	1991	25115											
HUWE1	10075	genome.wustl.edu	37	chrX	53600796	53600796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataggacctcaccaactctgCcagaagacgaaggatagtgg	14	6	11	10	1	2	2	1	0	1	2	2	5	2	4	3	3	2	0	3	3	5	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:53600796C>T	ENST00000342160.3	-	46	6683	c.6226G>A	c.(6226-6228)Gca>Aca	p.A2076T	HUWE1_ENST00000262854.6_Missense_Mutation_p.A2076T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2076					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCAACTCTGCCAGAAGACGA	0.483																																																	0													223	166	185					X																	53600796		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6226G>A	X.37:g.53600796C>T	ENSP00000340648:p.Ala2076Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A2076T	ENST00000342160.3	37	c.6226	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.447189|4.447189	0.84101|0.84101	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.56275|.	0.47;0.47|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.55097|0.55097	0.1899|0.1899	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.993;0.996|.	D;D|.	0.79784|.	0.971;0.993|.	T|T	0.50372|0.50372	-0.8836|-0.8836	10|5	0.15499|.	T|.	0.54|.	.|.	17.8223|17.8223	0.88654|0.88654	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2076;2076|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	T|D	2076|1109	ENSP00000340648:A2076T;ENSP00000262854:A2076T|.	ENSP00000262854:A2076T|.	A|G	-|-	1|2	0|0	HUWE1|HUWE1	53617521|53617521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.428000|7.428000	0.80296|0.80296	2.482000|2.482000	0.83794|0.83794	0.544000|0.544000	0.68410|0.68410	GCA|GGC	HUWE1	-	NULL	ENSG00000086758		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1		0	88	0	C	XM_497119		53600796	-1			no_errors	ENST00000262854	ensembl	human	known	74_37	missense	6.49	71	5	SNP	1.000	T	T	53600796	C	T	53600796	3	4	87	1	0	0	0	0	1	0	0	0	7488	739	26	3	7050	3	HUWE1	23	53600796	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	29936	53600796	101669764	1992	25116											
SPIN2B	474343	genome.wustl.edu	37	chrX	57146545	57146545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctagaagctggtacatgTacaagacaggatctttctca	13	11	8	9	0	3	2	1	0	3	2	4	3	3	3	0	2	3	3	0	2	5	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:57146545T>C	ENST00000333933.3	-	2	828	c.518A>G	c.(517-519)tAc>tGc	p.Y173C	SPIN2B_ENST00000275988.5_Missense_Mutation_p.Y173C|SPIN2B_ENST00000374912.5_Missense_Mutation_p.Y173C|SPIN2B_ENST00000460948.1_Intron|RP3-323P24.3_ENST00000439622.1_RNA|SPIN2B_ENST00000374910.3_Intron	NM_001006681.1	NP_001006682.1	Q9BPZ2	SPI2B_HUMAN	spindlin family, member 2B	173					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gamete generation (GO:0007276)|regulation of cell cycle (GO:0051726)	nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|skin(1)	5						CTGGTACATGTACAAGACAGG	0.463																																																	0													26	24	24					X																	57146545		2196	4267	6463	SO:0001583	missense	0			AF356353	CCDS35311.1, CCDS65274.1	Xp11.1	2014-02-12	2006-12-05		ENSG00000186787	ENSG00000186787			33147	protein-coding gene	gene with protein product		300517				12145692	Standard	XM_005262010		Approved	SPIN-2	uc004dva.3	Q9BPZ2	OTTHUMG00000021680	ENST00000333933.3:c.518A>G	X.37:g.57146545T>C	ENSP00000335008:p.Tyr173Cys		Q7Z2M0	Missense_Mutation	SNP	pfam_Spin_Ssty	p.Y173C	ENST00000333933.3	37	c.518	CCDS35311.1	X	.	.	.	.	.	.	.	.	.	.	t	14.00	2.404383	0.42613	.	.	ENSG00000186787	ENST00000275988;ENST00000374912;ENST00000333933;ENST00000434397	T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84	2.37	2.37	0.29283	.	0.000000	0.64402	D	0.000001	T	0.81475	0.4830	M	0.67397	2.05	0.47621	D	0.999477	D	0.89917	1.0	D	0.79108	0.992	T	0.81391	-0.0954	10	0.87932	D	0	-21.5255	7.9777	0.30164	0.0:0.0:0.0:1.0	.	173	Q9BPZ2	SPI2B_HUMAN	C	173	ENSP00000275988:Y173C;ENSP00000364047:Y173C;ENSP00000335008:Y173C;ENSP00000404314:Y173C	ENSP00000275988:Y173C	Y	-	2	0	SPIN2B	57163270	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	6.542000	0.73869	1.215000	0.43411	0.143000	0.16000	TAC	SPIN2B	-	pfam_Spin_Ssty	ENSG00000186787		0.463	SPIN2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIN2B	HGNC	protein_coding	OTTHUMT00000056912.1	-	0	43	0	T	NM_001006681		57146545	-1	tier1	-	no_errors	ENST00000275988	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	C	C	57146545	T	C	57146545	3	2	87	1	0	0	0	0	1	0	0	0	15101	1638	57	4	262	4	SPIN2B	23	57146545	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	3545749	57146545	98124015	1993	25117											
NLGN3	54413	genome.wustl.edu	37	chrX	70367609	70367609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccggaacatgtggctgCggcttggcccgccctcgctg	3	8	14	16	4	0	0	0	0	0	0	1	1	0	1	3	4	3	3	3	4	1	1	rs376877146		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:70367609C>T	ENST00000358741.3	+	2	313	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	NLGN3_ENST00000536169.1_Missense_Mutation_p.R4W|NLGN3_ENST00000374051.3_Missense_Mutation_p.R4W	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	4					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CATGTGGCTGCGGCTTGGCCC	0.647													C|||	8	0.00211921	0	0	3775	,	,		12564	0		0	False		,,,				2504	0.0082				Esophageal Squamous(103;760 1488 16849 22250 40351)												0								C	TRP/ARG,TRP/ARG,TRP/ARG	0,3771		0,0,1612,547	14	13	14		10,10,10	1.6	1	X		14	1,6582		0,1,2395,1791	no	missense,missense,missense	NLGN3	NM_001166660.1,NM_018977.3,NM_181303.1	101,101,101	0,1,4007,2338	TT,TC,CC,C		0.0152,0.0,0.0097	possibly-damaging,possibly-damaging,possibly-damaging	4/809,4/829,4/849	70367609	1,10353	2159	4187	6346	SO:0001583	missense	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.10C>T	X.37:g.70367609C>T	ENSP00000351591:p.Arg4Trp		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R4W	ENST00000358741.3	37	c.10	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927184	0.18056	0.0	1.52E-4	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.70045	-0.22;-0.21;-0.45;-0.25	4.35	1.62	0.23740	.	1.553620	0.03657	N	0.242027	T	0.46229	0.1382	N	0.08118	0	0.20074	N	0.999932	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.01281	0.0;0.0;0.0	T	0.36578	-0.9742	10	0.59425	D	0.04	.	3.5899	0.07985	0.1858:0.4136:0.0:0.4006	.	4;4;4	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	W	4	ENSP00000445298:R4W;ENSP00000363163:R4W;ENSP00000379196:R4W;ENSP00000351591:R4W	ENSP00000351591:R4W	R	+	1	2	NLGN3	70284334	0.989000	0.36119	0.981000	0.43875	0.974000	0.67602	0.443000	0.21644	0.032000	0.15435	-0.297000	0.09499	CGG	NLGN3	-	NULL	ENSG00000196338		0.647	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	-	0	56	0	C	NM_018977		70367609	1	tier1	-	no_errors	ENST00000358741	ensembl	human	known	74_37	missense	41.86	25	18	SNP	0.816	T	T	70367609	C	T	70367609	3	4	87	1	0	0	0	0	1	0	0	0	10502	759	27	1	12	1	NLGN3	23	70367609	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	13221064	70367609	84902951	1994	25118											
ZMYM3	9203	genome.wustl.edu	37	chrX	70470303	70470303	+	Frame_Shift_Del	DEL	T	T	-																															tcttgcagaaggtacaggtcTttttgcccgagggcttcttg																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:70470303delT	ENST00000353904.2	-	5	1239	c.1052delA	c.(1051-1053)aagfs	p.K351fs	ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.K351fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.K353fs|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.K353fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.K353fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.K351fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.K351fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	351					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGTACAGGTCTTTTTGCCCGA	0.562																																																	0													36	30	32					X																	70470303		2203	4300	6503	SO:0001589	frameshift_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1052delA	X.37:g.70470303delT	ENSP00000343909:p.Lys351fs		D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.K353fs	ENST00000353904.2	37	c.1058	CCDS14409.1	X																																																																																			ZMYM3	-	pfam_Znf_MYM	ENSG00000147130		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1		0	94	0	T	NM_201599		70470303	-1	tier1		no_errors	ENST00000373988	ensembl	human	known	74_37	frame_shift_del	43.86	32	25	DEL	1.000	-	-	70470303	T	-	70470303	7	5	87	1	0	1	0	1	0	0	0	0	17749	1609	56	0	3162	0	ZMYM3	23	70470303	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	102694	70470303	84800257	1995	25119											
CHIC1	53344	genome.wustl.edu	37	chrX	72783226	72783226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtcgccgtcgtcgtcgTcgtcggtatctgggcccgac	2	10	14	15	10	1	0	0	0	1	0	8	1	1	0	2	2	0	1	2	2	1	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:72783226T>C	ENST00000373502.5	+	1	183	c.106T>C	c.(106-108)Tcg>Ccg	p.S36P	MAP2K4P1_ENST00000602584.1_RNA|CHIC1_ENST00000373504.6_Missense_Mutation_p.S36P	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	36	Ser-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					gtcgtcgtcgtcgtcgGTATC	0.607																																																	0													21	12	15					X																	72783226		2117	4121	6238	SO:0001583	missense	0			Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.106T>C	X.37:g.72783226T>C	ENSP00000362601:p.Ser36Pro		A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	Missense_Mutation	SNP	pfam_Golgin_A_7/ERF4	p.S36P	ENST00000373502.5	37	c.106	CCDS35335.2	X	.	.	.	.	.	.	.	.	.	.	T	14.28	2.487795	0.44249	.	.	ENSG00000204116	ENST00000373502;ENST00000373504	.	.	.	3.87	2.59	0.31030	.	0.000000	0.33980	N	0.004379	T	0.13628	0.0330	N	0.08118	0	0.25018	N	0.991353	P;P;P	0.48294	0.851;0.908;0.851	B;B;B	0.42112	0.208;0.376;0.13	T	0.06303	-1.0834	9	0.37606	T	0.19	-11.6976	5.2808	0.15674	0.259:0.0:0.0:0.741	.	36;36;36	B7Z3I1;Q5VXU3-2;Q5VXU3	.;.;CHIC1_HUMAN	P	36	.	ENSP00000362601:S36P	S	+	1	0	CHIC1	72699951	1.000000	0.71417	0.979000	0.43373	0.860000	0.49131	0.864000	0.27926	1.562000	0.49601	0.345000	0.21793	TCG	CHIC1	-	NULL	ENSG00000204116		0.607	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC1	HGNC	protein_coding	OTTHUMT00000057233.3	-	0	46	0	T			72783226	1	tier1	-	no_errors	ENST00000373502	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.993	C	C	72783226	T	C	72783226	3	2	87	1	0	0	0	0	1	0	0	0	3350	1667	58	4	108	4	CHIC1	23	72783226	Missense_Mutation	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	2312923	72783226	82487334	1996	25120											
MAGEE1	57692	genome.wustl.edu	37	chrX	75650001	75650001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcacacacctacattCtgttaaacaaactgggacct	13	9	7	12	0	1	1	0	1	1	0	1	2	1	2	2	2	3	2	2	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:75650001C>A	ENST00000361470.2	+	1	1956	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	560	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTACATTCTGTTAAACAA	0.483																																																	0													34	30	32					X																	75650001		2203	4300	6503	SO:0001583	missense	0			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1678C>A	X.37:g.75650001C>A	ENSP00000354912:p.Leu560Met		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.L560M	ENST00000361470.2	37	c.1678	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	C	4.212	0.038202	0.08148	.	.	ENSG00000198934	ENST00000361470	T	0.16196	2.36	2.34	1.46	0.22682	.	.	.	.	.	T	0.37489	0.1005	M	0.81802	2.56	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11131	-1.0600	9	0.87932	D	0	.	4.3531	0.11165	0.0:0.7943:0.0:0.2057	.	560	Q9HCI5	MAGE1_HUMAN	M	560	ENSP00000354912:L560M	ENSP00000354912:L560M	L	+	1	2	MAGEE1	75566405	0.999000	0.42202	0.023000	0.16930	0.003000	0.03518	0.913000	0.28611	0.403000	0.25479	0.594000	0.82650	CTG	MAGEE1	-	pfam_MAGE,pfscan_MAGE	ENSG00000198934		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	-	0	41	0	C	NM_020932		75650001	1	tier1	-	no_errors	ENST00000361470	ensembl	human	known	74_37	missense	40.00	18	12	SNP	0.019	A	A	75650001	C	A	75650001	3	1	87	1	0	0	0	0	1	0	0	0	9223	912	32	3	1680	3	MAGEE1	23	75650001	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	2866775	75650001	79620559	1997	25121											
HDX	139324	genome.wustl.edu	37	chrX	83616578	83616578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtcccaatacttcttaaGggtggctaagtctcggtcac	9	13	9	10	1	3	0	1	0	2	0	5	0	4	0	1	3	1	1	1	3	4	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:83616578G>T	ENST00000297977.5	-	5	1459	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I	HDX_ENST00000373177.2_Missense_Mutation_p.L450I|HDX_ENST00000506585.2_Missense_Mutation_p.L392I	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	450						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACTTCTTAAGGGTGGCTAAG	0.378																																					Pancreas(53;231 1169 36156 43751 51139)												0													64	50	55					X																	83616578		2203	4300	6503	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1348C>A	X.37:g.83616578G>T	ENSP00000297977:p.Leu450Ile		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L450I	ENST00000297977.5	37	c.1348	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914710	0.92178	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	D;D;D	0.99567	-6.18;-6.18;-6.18	5.35	5.35	0.76521	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98953	1.0795	10	0.87932	D	0	-17.2547	18.1973	0.89826	0.0:0.0:1.0:0.0	.	450	Q7Z353	HDX_HUMAN	I	450;392;450	ENSP00000297977:L450I;ENSP00000362272:L392I;ENSP00000423670:L450I	ENSP00000297977:L450I	L	-	1	0	HDX	83503234	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.801000	0.85960	2.235000	0.73313	0.544000	0.68410	CTT	HDX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165259		0.378	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0	78	0	G	NM_144657		83616578	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	T	T	83616578	G	T	83616578	3	4	87	1	0	0	0	0	1	0	0	0	7053	1000	35	3	748	3	HDX	23	83616578	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	7966577	83616578	71653982	1998	25122											
SATL1	340562	genome.wustl.edu	37	chrX	84363925	84363925	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggctggtttatgcctGcttggttcgagtctgataaa	6	16	12	7	1	1	1	0	1	1	0	2	2	1	1	1	3	3	5	1	3	3	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:84363925G>T	ENST00000395409.3	-	0	49				SATL1_ENST00000509231.1_Missense_Mutation_p.A17E|SATL1_ENST00000332921.5_5'UTR			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTATGCCTGCTTGGTTCGA	0.458											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													360	226	267					X																	84363925		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.-512C>A	X.37:g.84363925G>T		1228	A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.A17E	ENST00000395409.3	37	c.50		X	.	.	.	.	.	.	.	.	.	.	G	1.400	-0.578468	0.03854	.	.	ENSG00000184788	ENST00000509231	T	0.41065	1.01	3.37	-1.36	0.09085	.	.	.	.	.	T	0.15782	0.0380	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21042	-1.0257	8	.	.	.	.	0.2059	0.00150	0.2449:0.1645:0.2554:0.3352	.	17	E9PB72	.	E	17	ENSP00000425421:A17E	.	A	-	2	0	SATL1	84250581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.218000	0.09240	-0.196000	0.10366	-0.494000	0.04653	GCA	SATL1	-	NULL	ENSG00000184788		0.458	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		-	0	87	0	G	XM_291339		84363925	-1	tier1	-	no_errors	ENST00000509231	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.000	T	T	84363925	G	T	84363925	1	4	87	0	1	0	0	0	0	0	0	0	13900	1319	46	3		3	SATL1	23	84363925	5'UTR	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	747347	84363925	70906635	1999	25123											
CHM	1121	genome.wustl.edu	37	chrX	85211363	85211363	+	Frame_Shift_Del	DEL	A	A	-																															ttgagtctttaaatattcatAaaatgtgatctcttcatatc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:85211363delA	ENST00000357749.2	-	8	990	c.961delT	c.(961-963)tatfs	p.Y321fs	CHM_ENST00000537751.1_Frame_Shift_Del_p.Y173fs|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	321					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAATATTCATAAAATGTGATC	0.333																																																	0													49	43	45					X																	85211363		2203	4300	6503	SO:0001589	frameshift_variant	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.961delT	X.37:g.85211363delA	ENSP00000350386:p.Tyr321fs		A1L4D2|O43732	Frame_Shift_Del	DEL	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.Y321fs	ENST00000357749.2	37	c.961	CCDS14454.1	X																																																																																			CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk	ENSG00000188419		0.333	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3		0	40	0	A	NM_000390		85211363	-1	tier1		no_errors	ENST00000357749	ensembl	human	known	74_37	frame_shift_del	26.47	25	9	DEL	0.999	-	-	85211363	A	-	85211363	7	5	87	1	0	1	0	1	0	0	0	0	3357	362	13	0	1032	0	CHM	23	85211363	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	847438	85211363	70059197	2000	25124											
KLHL4	56062	genome.wustl.edu	37	chrX	86772933	86772933	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagagtttgatgtgaaaCagatcctaaggctacgctgg	14	9	12	6	1	0	5	0	2	0	3	1	5	1	5	1	2	2	3	1	2	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:86772933C>T	ENST00000373119.4	+	1	182	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Q13*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	13						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGATGTGAAACAGATCCTAAG	0.463																																																	0													118	108	112					X																	86772933		2203	4300	6503	SO:0001587	stop_gained	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.37C>T	X.37:g.86772933C>T	ENSP00000362211:p.Gln13*		B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q13*	ENST00000373119.4	37	c.37	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.900027	0.97920	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.3817	0.83467	0.0:1.0:0.0:0.0	.	.	.	.	X	13	.	ENSP00000362206:Q13X	Q	+	1	0	KLHL4	86659589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.842000	0.75379	2.327000	0.79052	0.513000	0.50165	CAG	KLHL4	-	NULL	ENSG00000102271		0.463	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	-	0	62	0	C			86772933	1	tier1	-	no_errors	ENST00000373114	ensembl	human	known	74_37	nonsense	27.27	24	9	SNP	1.000	T	T	86772933	C	T	86772933	4	4	87	1	0	0	0	0	0	1	0	0	8418	479	17	3	39	3	KLHL4	23	86772933	Nonsense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1561570	86772933	68497627	2001	25125											
NAP1L3	4675	genome.wustl.edu	37	chrX	92927880	92927880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaccgcctatcatacagagGcttgttgagttcagcatatt	12	12	8	9	1	2	2	2	1	0	1	2	2	2	2	2	1	3	4	2	1	4	7			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:92927880G>T	ENST00000373079.3	-	1	687	c.424C>A	c.(424-426)Cct>Act	p.P142T	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.P135T|FAM133A_ENST00000322139.4_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	142					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCATACAGAGGCTTGTTGAGT	0.393																																																	0													50	43	46					X																	92927880		2203	4300	6503	SO:0001583	missense	0				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.424C>A	X.37:g.92927880G>T	ENSP00000362171:p.Pro142Thr		B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.P142T	ENST00000373079.3	37	c.424	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612420	0.46631	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.56444	0.46	3.89	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.83852	2.665	0.33217	D	0.554142	D	0.76494	0.999	D	0.72982	0.979	T	0.78301	-0.2257	10	0.87932	D	0	-11.6388	9.0026	0.36092	0.1141:0.0:0.8859:0.0	.	142	Q99457	NP1L3_HUMAN	T	142;135	ENSP00000362171:P142T	ENSP00000362171:P142T	P	-	1	0	NAP1L3	92814536	1.000000	0.71417	0.924000	0.36721	0.742000	0.42306	4.043000	0.57354	1.026000	0.39733	0.529000	0.55759	CCT	NAP1L3	-	pfam_NAP_family	ENSG00000186310		0.393	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	-	0	61	0	G	NM_004538		92927880	-1	tier1	-	no_errors	ENST00000373079	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	92927880	G	T	92927880	3	4	87	1	0	0	0	0	1	0	0	0	10196	1203	42	3	1100	3	NAP1L3	23	92927880	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	6154947	92927880	62342680	2002	25126											
DIAPH2	1730	genome.wustl.edu	37	chrX	96173528	96173528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagataaacttttaggggCtataacaacagcagcagaaa	17	9	8	7	0	1	2	0	0	1	2	1	2	1	2	0	2	5	3	0	2	8	6			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:96173528C>A	ENST00000324765.8	+	9	1237	c.890C>A	c.(889-891)gCt>gAt	p.A297D	DIAPH2_ENST00000373054.4_Missense_Mutation_p.A293D|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A297D|DIAPH2_ENST00000373049.4_Missense_Mutation_p.A297D|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A297D			O60879	DIAP2_HUMAN	diaphanous-related formin 2	297	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CTTTTAGGGGCTATAACAACA	0.373																																																	0													87	78	81					X																	96173528		2203	4299	6502	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.890C>A	X.37:g.96173528C>A	ENSP00000321348:p.Ala297Asp		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.A297D	ENST00000324765.8	37	c.890	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	c	17.85	3.490472	0.64074	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.87	4.99	0.66335	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.065361	0.64402	D	0.000013	D	0.93360	0.7883	M	0.88775	2.98	0.50039	D	0.999846	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.986;0.999	D	0.94248	0.7491	10	0.72032	D	0.01	.	15.4756	0.75478	0.0:0.8612:0.1388:0.0	.	297;297;304	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	D	297;293;297;297;297;304	ENSP00000362152:A297D;ENSP00000362145:A293D;ENSP00000348082:A297D;ENSP00000362140:A297D;ENSP00000321348:A297D	ENSP00000321348:A297D	A	+	2	0	DIAPH2	96060184	1.000000	0.71417	0.984000	0.44739	0.953000	0.61014	5.211000	0.65219	1.214000	0.43395	0.534000	0.68092	GCT	DIAPH2	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000147202		0.373	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	-	0	76	0	C	NM_006729, NM_007309		96173528	1	tier1	-	no_errors	ENST00000324765	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	A	A	96173528	C	A	96173528	3	1	87	1	0	0	0	0	1	0	0	0	4533	797	28	3	924	3	DIAPH2	23	96173528	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3245648	96173528	59097032	2003	25127											
CENPI	2491	genome.wustl.edu	37	chrX	100364892	100364892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaataggtacttttttatCgttggctggttgcaatgttt	7	20	9	5	1	1	0	1	0	0	0	2	0	1	0	0	3	2	6	0	3	5	9	rs367921628		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:100364892C>T	ENST00000372927.1	+	5	773	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	CENPI_ENST00000423383.1_Missense_Mutation_p.R166C|CENPI_ENST00000372926.1_Missense_Mutation_p.R166C|CENPI_ENST00000218507.5_Missense_Mutation_p.R166C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	166					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						ACTTTTTTATCGTTGGCTGGT	0.408																																																	0								C	CYS/ARG	0,3833		0,0,0,1631,571	157	127	137		496	5.1	1	X		137	1,6727		0,0,1,2428,1871	no	missense	CENPI	NM_006733.2	180	0,0,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	probably-damaging	166/757	100364892	1,10560	2202	4300	6502	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"FSH primary response (LRPR1, rat) homolog 1", "FSH primary response (LRPR1 homolog, rat) 1"	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.496C>T	X.37:g.100364892C>T	ENSP00000362018:p.Arg166Cys		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_CENP-I	p.R166C	ENST00000372927.1	37	c.496	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217701	0.58560	0.0	1.49E-4	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.08	5.08	0.68730	.	0.054076	0.64402	D	0.000001	T	0.77212	0.4097	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.79897	-0.1609	9	0.87932	D	0	-12.2593	10.6224	0.45487	0.2555:0.7445:0.0:0.0	.	166;166	B4DZL4;Q92674	.;CENPI_HUMAN	C	166	.	ENSP00000218507:R166C	R	+	1	0	CENPI	100251548	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.108000	0.50337	2.252000	0.74401	0.600000	0.82982	CGT	CENPI	-	pfam_CENP-I	ENSG00000102384		0.408	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	-	0	83	0	C	NM_006733		100364892	1	tier1	-	no_errors	ENST00000372927	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T	T	100364892	C	T	100364892	3	4	87	1	0	0	0	0	1	0	0	0	3240	884	31	1	510	1	CENPI	23	100364892	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	4191364	100364892	54905668	2004	25128											
TCEAL2	140597	genome.wustl.edu	37	chrX	101381878	101381878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaagaacagccaccgCacgagggaaagccagaagta	18	2	11	10	2	0	3	0	1	0	2	0	5	0	4	3	1	3	2	3	1	6	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:101381878C>A	ENST00000372780.1	+	3	295	c.76C>A	c.(76-78)Cac>Aac	p.H26N	TCEAL2_ENST00000329035.2_Missense_Mutation_p.H26N	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	26					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACAGCCACCGCACGAGGGAAA	0.428																																																	0													111	102	105					X																	101381878		2203	4300	6503	SO:0001583	missense	0			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.76C>A	X.37:g.101381878C>A	ENSP00000361866:p.His26Asn		B2R5C7	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.H26N	ENST00000372780.1	37	c.76	CCDS14496.1	X	.	.	.	.	.	.	.	.	.	.	G	4.641	0.119232	0.08881	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.19806	2.12;2.12	2.57	-2.05	0.07321	.	0.816025	0.10606	N	0.655056	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	10	0.21014	T	0.42	.	1.7075	0.02885	0.1481:0.4109:0.2557:0.1853	.	26	Q9H3H9	TCAL2_HUMAN	N	26	ENSP00000361866:H26N;ENSP00000332359:H26N	ENSP00000332359:H26N	H	+	1	0	TCEAL2	101268534	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.227000	0.09126	-0.684000	0.05183	-1.329000	0.01275	CAC	TCEAL2	-	NULL	ENSG00000184905		0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL2	HGNC	protein_coding	OTTHUMT00000057605.1	-	0	61	0	C	NM_080390		101381878	1	tier1	-	no_errors	ENST00000329035	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.000	A	A	101381878	C	A	101381878	3	1	87	1	0	0	0	0	1	0	0	0	15718	710	25	3	78	3	TCEAL2	23	101381878	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1016986	101381878	53888682	2005	25129											
CLDN2	9075	genome.wustl.edu	37	chrX	106171568	106171568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaacaagttcttatgtcgGtgccagcattgtgacagcag	12	10	11	8	1	1	1	0	1	1	0	2	2	1	1	1	1	4	3	1	1	4	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:106171568G>A	ENST00000541806.1	+	2	629	c.110G>A	c.(109-111)gGt>gAt	p.G37D	CLDN2_ENST00000540876.1_Missense_Mutation_p.G37D|CLDN2_ENST00000336803.1_Missense_Mutation_p.G37D	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	37					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTTATGTCGGTGCCAGCATT	0.547																																																	0													101	85	90					X																	106171568		2203	4300	6503	SO:0001583	missense	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.110G>A	X.37:g.106171568G>A	ENSP00000441283:p.Gly37Asp		B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.G37D	ENST00000541806.1	37	c.110	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770569	0.69992	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.90069	-2.61;-2.61;-2.61	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.93044	0.7786	M	0.62209	1.925	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.92715	0.6186	10	0.45353	T	0.12	.	15.8745	0.79151	0.0:0.0:1.0:0.0	.	37	P57739	CLD2_HUMAN	D	37	ENSP00000441283:G37D;ENSP00000443230:G37D;ENSP00000336571:G37D	ENSP00000336571:G37D	G	+	2	0	CLDN2	106058224	1.000000	0.71417	0.982000	0.44146	0.760000	0.43138	7.945000	0.87732	2.348000	0.79779	0.600000	0.82982	GGT	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14	ENSG00000165376		0.547	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1		0	40	0	G			106171568	1			no_errors	ENST00000336803	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	106171568	G	A	106171568	3	1	87	1	0	0	0	0	1	0	0	0	3488	1261	44	3	112	3	CLDN2	23	106171568	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	4789690	106171568	49098992	2006	25130											
COL4A5	1287	genome.wustl.edu	37	chrX	107898611	107898611	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggtatcaaaggttcTgtgggagatcctggtttgcc	8	12	12	9	0	2	1	1	0	1	1	3	2	3	1	3	4	2	3	3	4	3	3			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:107898611T>C	ENST00000361603.2	+	37	3541	c.3297T>C	c.(3295-3297)tcT>tcC	p.S1099S	COL4A5_ENST00000328300.6_Silent_p.S1099S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1099	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCAAAGGTTCTGTGGGAGATC	0.473									Alport syndrome with Diffuse Leiomyomatosis																																								0													79	76	77					X																	107898611		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3297T>C	X.37:g.107898611T>C			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.S1099	ENST00000361603.2	37	c.3297	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.473	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0	56	0	T			107898611	1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	silent	11.63	38	5	SNP	0.009	C	C	107898611	T	C	107898611	2	2	87	1	0	0	0	0	0	0	0	1	3701	1567	55	4		4	COL4A5	23	107898611	Silent	SNP	T	TCGA-L5-A8NM-01A-11D-A37C-09	1727043	107898611	47371949	2007	25131											
IRS4	8471	genome.wustl.edu	37	chrX	107977803	107977803	+	Frame_Shift_Del	DEL	C	C	-																															tcccacttcctgagcctttgCcccccccagagttcttgcca																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:107977803delC	ENST00000372129.2	-	1	1848	c.1772delG	c.(1771-1773)ggcfs	p.G591fs	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAGCCTTTGCCCCCCCCAGA	0.542																																																	0													178	181	180					X																	107977803		2203	4300	6503	SO:0001589	frameshift_variant	0			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.1772delG	X.37:g.107977803delC	ENSP00000361202:p.Gly591fs			Frame_Shift_Del	DEL	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G591fs	ENST00000372129.2	37	c.1772	CCDS14544.1	X																																																																																			IRS4	-	NULL	ENSG00000133124		0.542	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1		0	49	0	C	NM_003604		107977803	-1	tier1		no_errors	ENST00000372129	ensembl	human	known	74_37	frame_shift_del	12.00	22	3	DEL	0.016	-	-	107977803	C	-	107977803	7	5	87	1	0	1	0	1	0	0	0	0	7869	739	26	0	2005	0	IRS4	23	107977803	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	79192	107977803	47292757	2008	25132											
SLC6A14	11254	genome.wustl.edu	37	chrX	115569030	115569030	+	Frame_Shift_Del	DEL	A	A	-																															aggaccgtggtaactggtccAaaaaatcggattatcttcta																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:115569030delA	ENST00000371900.4	+	2	209	c.121delA	c.(121-123)aaafs	p.K42fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	42					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAACTGGTCCAAAAAATCGGA	0.408																																																	0													150	147	148					X																	115569030		2203	4300	6503	SO:0001589	frameshift_variant	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"Solute carriers"	11047	protein-coding gene	gene with protein product		300444	"solute carrier family 6 (neurotransmitter transporter), member 14"			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.121delA	X.37:g.115569030delA	ENSP00000360967:p.Lys42fs		Q5H942	Frame_Shift_Del	DEL	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.K42fs	ENST00000371900.4	37	c.121	CCDS14570.1	X																																																																																			SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000087916		0.408	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1		0	117	0	A			115569030	1	tier1		no_errors	ENST00000371900	ensembl	human	known	74_37	frame_shift_del	24.32	56	18	DEL	1.000	-	-	115569030	A	-	115569030	7	5	87	1	0	1	0	1	0	0	0	0	14722	131	5	0	127	0	SLC6A14	23	115569030	Frame_Shift_Del	DEL	A	TCGA-L5-A8NM-01A-11D-A37C-09	7591227	115569030	39701530	2009	25133											
ANKRD58	347454	genome.wustl.edu	37	chrX	118893451	118893451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcgagcgcagtgggcgCgacggctgtggagacaagca	8	3	19	11	6	0	1	0	0	0	1	0	4	0	1	1	4	2	3	1	4	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:118893451C>T	ENST00000343905.3	+	1	876	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_001105576.2	NP_001099046.1	A6NJG2	SWAHD_HUMAN	sosondowah ankyrin repeat domain family member D	274																	GCAGTGGGCGCGACGGCTGTG	0.662																																																	0													10	14	13					X																	118893451		2094	4101	6195	SO:0001583	missense	0				CCDS43984.1	Xq24	2013-01-10	2012-01-12	2012-01-12	ENSG00000187808	ENSG00000187808		"Ankyrin repeat domain containing"	32960	protein-coding gene	gene with protein product			"ankyrin repeat domain 58"	ANKRD58		22234889	Standard	NM_001105576		Approved		uc010nql.3	A6NJG2	OTTHUMG00000159606	ENST00000343905.3:c.821C>T	X.37:g.118893451C>T	ENSP00000340975:p.Ala274Val			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A274V	ENST00000343905.3	37	c.821	CCDS43984.1	X	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433085	0.25813	.	.	ENSG00000187808	ENST00000343905	T	0.13089	2.62	3.82	-1.17	0.09648	.	.	.	.	.	T	0.07052	0.0179	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.40175	-0.9577	9	0.25751	T	0.34	-1.3674	4.6788	0.12725	0.0:0.4635:0.1581:0.3784	.	274	A6NJG2	ANR58_HUMAN	V	274	ENSP00000340975:A274V	ENSP00000340975:A274V	A	+	2	0	ANKRD58	118777479	0.000000	0.05858	0.000000	0.03702	0.643000	0.38383	-0.186000	0.09670	-0.275000	0.09219	0.436000	0.28706	GCG	SOWAHD	-	NULL	ENSG00000187808		0.662	SOWAHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHD	HGNC	protein_coding	OTTHUMT00000356469.1	-	0	33	0	C	NM_001105576		118893451	1	tier1	-	no_errors	ENST00000343905	ensembl	human	known	74_37	missense	35.71	9	5	SNP	0.000	T	T	118893451	C	T	118893451	3	4	87	1	0	0	0	0	1	0	0	0	684	768	27	1	823	1	ANKRD58	23	118893451	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	3324421	118893451	36377109	2010	25134											
GLUD2	2747	genome.wustl.edu	37	chrX	120182541	120182541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttggtgagtctgatGggagtatatggaatccagat	9	14	14	4	0	1	3	0	2	1	1	2	5	2	5	1	3	1	3	1	3	3	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:120182541G>A	ENST00000328078.1	+	1	1080	c.1003G>A	c.(1003-1005)Ggg>Agg	p.G335R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	335					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						TGAGTCTGATGGGAGTATATG	0.423																																																	0													222	205	211					X																	120182541		2203	4297	6500	SO:0001583	missense	0			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1003G>A	X.37:g.120182541G>A	ENSP00000327589:p.Gly335Arg		B2R8G0|Q9UDQ4	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.G335R	ENST00000328078.1	37	c.1003	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	G	13.87	2.364993	0.41902	.	.	ENSG00000182890	ENST00000328078	D	0.98978	-5.29	1.61	1.61	0.23674	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.146150	0.64402	N	0.000007	D	0.99453	0.9806	H	0.98629	4.285	0.58432	D	0.999998	D	0.76494	0.999	D	0.75484	0.986	D	0.98200	1.0467	10	0.62326	D	0.03	-29.6175	8.7757	0.34760	0.0:0.0:1.0:0.0	.	335	P49448	DHE4_HUMAN	R	335	ENSP00000327589:G335R	ENSP00000327589:G335R	G	+	1	0	GLUD2	120010222	1.000000	0.71417	0.099000	0.21106	0.532000	0.34746	6.221000	0.72243	1.126000	0.42016	0.472000	0.43445	GGG	GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C	ENSG00000182890		0.423	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	-	0	64	0	G	NM_012084		120182541	1	tier1	-	no_errors	ENST00000328078	ensembl	human	known	74_37	missense	27.27	32	12	SNP	1.000	A	A	120182541	G	A	120182541	3	1	87	1	0	0	0	0	1	0	0	0	6503	1348	47	3	1005	3	GLUD2	23	120182541	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1289090	120182541	35088019	2011	25135											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130217937	130217937	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggagttcactcgccgtggGcgtcgagtgagttaaaccct	7	9	14	11	5	1	1	1	1	0	0	3	3	1	2	2	2	1	2	2	2	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:130217937G>A	ENST00000276211.5	+	4	894	c.549G>A	c.(547-549)ggG>ggA	p.G183G	ARHGAP36_ENST00000370921.1_Silent_p.G47G|ARHGAP36_ENST00000370922.1_Silent_p.G171G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	183	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTCGCCGTGGGCGTCGAGTGA	0.627																																																	0													21	22	22					X																	130217937		2202	4296	6498	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.549G>A	X.37:g.130217937G>A			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.G183	ENST00000276211.5	37	c.549	CCDS14628.1	X																																																																																			ARHGAP36	-	NULL	ENSG00000147256		0.627	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0	61	0	G	NM_144967		130217937	1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	23.91	35	11	SNP	0.498	A	A	130217937	G	A	130217937	2	1	87	1	0	0	0	0	0	0	0	1	883	1190	42	3		3	ARHGAP36	23	130217937	Silent	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10035396	130217937	25052623	2012	25136											
OR13H1	347468	genome.wustl.edu	37	chrX	130678939	130678939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaaaaaagatgttaaaCgggcaataaggaaagttatg	20	8	11	2	1	0	2	0	1	0	2	0	4	0	3	0	2	1	3	0	2	9	3	rs571641755		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:130678939C>T	ENST00000338616.3	+	1	990	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGATGTTAAACGGGCAATAAG	0.398																																																	0													80	76	77					X																	130678939		2201	4292	6493	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.892C>T	X.37:g.130678939C>T	ENSP00000340748:p.Arg298Trp		B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R298W	ENST00000338616.3	37	c.892	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431281	0.25813	.	.	ENSG00000171054	ENST00000338616	T	0.40476	1.03	4.87	2.14	0.27477	.	0.369652	0.19507	U	0.112602	T	0.32164	0.0820	L	0.51914	1.62	0.09310	N	1	P	0.47841	0.901	B	0.40329	0.326	T	0.26916	-1.0089	10	0.87932	D	0	.	4.482	0.11771	0.0885:0.149:0.6058:0.1566	.	298	Q8NG92	O13H1_HUMAN	W	298	ENSP00000340748:R298W	ENSP00000340748:R298W	R	+	1	2	OR13H1	130506620	0.013000	0.17824	0.110000	0.21437	0.625000	0.37756	1.008000	0.29872	0.130000	0.18549	-0.186000	0.12905	CGG	OR13H1	-	NULL	ENSG00000171054		0.398	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	HGNC	protein_coding	OTTHUMT00000058297.1	-	0	25	0	C			130678939	1	tier1	-	no_errors	ENST00000338616	ensembl	human	known	74_37	missense	28.57	15	6	SNP	0.197	T	T	130678939	C	T	130678939	3	4	87	1	0	0	0	0	1	0	0	0	10982	527	19	1	894	1	OR13H1	23	130678939	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	461002	130678939	24591621	2013	25137											
HS6ST2	90161	genome.wustl.edu	37	chrX	131762903	131762903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagagcatgcgcacctggCggttgttggctagattgtag	7	10	16	8	3	0	2	0	0	0	2	0	3	0	2	1	4	2	6	1	4	2	5			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:131762903C>T	ENST00000370836.2	-	4	1581	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	HS6ST2_ENST00000406696.3_Missense_Mutation_p.R115H|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R283H|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R429H	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	389					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GCGCACCTGGCGGTTGTTGGC	0.552																																																	0													77	76	76					X																	131762903		2050	4197	6247	SO:0001583	missense	0			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"Sulfotransferases, membrane-bound"	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1166G>A	X.37:g.131762903C>T	ENSP00000359873:p.Arg389His		B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.R429H	ENST00000370836.2	37	c.1286	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335758	0.81801	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833;ENST00000319809	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	6.02	6.02	0.97574	.	0.048238	0.85682	D	0.000000	D	0.90317	0.6971	M	0.89414	3.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.989	D	0.91418	0.5156	10	0.66056	D	0.02	-5.6142	18.3084	0.90190	0.0:1.0:0.0:0.0	.	389;429;115	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	H	243;389;429;115;283;270	ENSP00000359874:R243H;ENSP00000359873:R389H;ENSP00000429473:R429H;ENSP00000384013:R115H;ENSP00000359870:R283H	ENSP00000324617:R270H	R	-	2	0	HS6ST2	131590584	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.549000	0.85964	0.600000	0.82982	CGC	HS6ST2	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000171004		0.552	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	-	0	78	0	C	NM_147174		131762903	-1	tier1	-	no_errors	ENST00000521489	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T	T	131762903	C	T	131762903	3	4	87	1	0	0	0	0	1	0	0	0	7398	768	27	1	655	1	HS6ST2	23	131762903	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	1083964	131762903	23507657	2014	25138											
GPC4	2239	genome.wustl.edu	37	chrX	132439923	132439923	+	Frame_Shift_Del	DEL	G	G	-																															cgtccagctgggaggggcttGgggggtccacatccctggaa																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:132439923delG	ENST00000370828.3	-	6	1556	c.1032delC	c.(1030-1032)cccfs	p.P344fs	GPC4_ENST00000535467.1_Frame_Shift_Del_p.P274fs	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	344					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.K345fs*49(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GGAGGGGCTTGGGGGGTCCAC	0.587																																																	1	Deletion - Frameshift(1)	large_intestine(1)											145	150	148					X																	132439923		2203	4300	6503	SO:0001589	frameshift_variant	0			AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"Proteoglycans / Cell Surface : Glypicans"	4452	protein-coding gene	gene with protein product	"glypican proteoglycan 4"	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1032delC	X.37:g.132439923delG	ENSP00000359864:p.Pro344fs		B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Frame_Shift_Del	DEL	pfam_Glypican	p.K345fs	ENST00000370828.3	37	c.1032	CCDS14637.1	X																																																																																			GPC4	-	pfam_Glypican	ENSG00000076716		0.587	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC4	HGNC	protein_coding	OTTHUMT00000058338.1		0	72	0	G	NM_001448		132439923	-1	tier1		no_errors	ENST00000370828	ensembl	human	known	74_37	frame_shift_del	15.79	48	9	DEL	0.073	-	-	132439923	G	-	132439923	7	5	87	1	0	1	0	1	0	0	0	0	6626	1335	47	0	654	0	GPC4	23	132439923	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	677020	132439923	22830637	2015	25139											
DDX26B	203522	genome.wustl.edu	37	chrX	134680317	134680317	+	Frame_Shift_Del	DEL	T	T	-																															tattttaggggagaaatccaTtttttttagaaccatctatt																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:134680317delT	ENST00000370752.4	+	4	686	c.352delT	c.(352-354)tttfs	p.F119fs	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	119	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAATCCATTTTTTTTAGA	0.274																																																	0													39	38	39					X																	134680317		2198	4288	6486	SO:0001589	frameshift_variant	0			AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"DEAD-boxes"	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.352delT	X.37:g.134680317delT	ENSP00000359788:p.Phe119fs		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Frame_Shift_Del	DEL	pfscan_VWF_A	p.L120fs	ENST00000370752.4	37	c.352	CCDS35401.1	X																																																																																			DDX26B	-	pfscan_VWF_A	ENSG00000165359		0.274	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX26B	HGNC	protein_coding	OTTHUMT00000058420.1		0	153	0	T	NM_182540		134680317	1	tier1		no_errors	ENST00000370752	ensembl	human	known	74_37	frame_shift_del	14.29	114	19	DEL	1.000	-	-	134680317	T	-	134680317	7	5	87	1	0	1	0	1	0	0	0	0	4362	1493	52	0	366	0	DDX26B	23	134680317	Frame_Shift_Del	DEL	T	TCGA-L5-A8NM-01A-11D-A37C-09	2240394	134680317	20590243	2016	25140											
SLITRK2	84631	genome.wustl.edu	37	chrX	144904398	144904398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcagtgccatcgaggctgGggcattcagcaaacttaaca	12	8	10	11	1	2	0	2	0	0	0	3	1	2	0	1	3	4	3	1	3	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:144904398G>T	ENST00000370490.1	+	1	4710	c.455G>T	c.(454-456)gGg>gTg	p.G152V	SLITRK2_ENST00000447897.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.G152V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G152V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	152					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATCGAGGCTGGGGCATTCAGC	0.507																																																	0													137	95	109					X																	144904398		2203	4300	6503	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.455G>T	X.37:g.144904398G>T	ENSP00000359521:p.Gly152Val		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G152V	ENST00000370490.1	37	c.455	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000932	0.74818	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.19	5.19	0.71726	.	0.000000	0.85682	U	0.000000	T	0.78091	0.4229	M	0.92784	3.345	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.84009	0.0347	10	0.72032	D	0.01	-7.7566	15.0584	0.71933	0.0:0.0:1.0:0.0	.	152	Q9H156	SLIK2_HUMAN	V	152	ENSP00000334374:G152V;ENSP00000411681:G152V;ENSP00000359521:G152V;ENSP00000397015:G152V;ENSP00000407347:G152V;ENSP00000412010:G152V	ENSP00000334374:G152V	G	+	2	0	SLITRK2	144712090	1.000000	0.71417	0.953000	0.39169	0.915000	0.54546	5.684000	0.68197	2.141000	0.66446	0.600000	0.82982	GGG	SLITRK2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185985		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0	36	0	G	NM_032539		144904398	1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.998	T	T	144904398	G	T	144904398	3	4	87	1	0	0	0	0	1	0	0	0	14788	1232	43	3	457	3	SLITRK2	23	144904398	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	10224081	144904398	10366162	2017	25141											
AFF2	2334	genome.wustl.edu	37	chrX	148069012	148069012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacatggctgccagccacGtcaacatcactagcaatgtg	12	7	8	14	1	2	0	2	0	0	0	2	0	2	0	3	1	4	2	3	1	3	1			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:148069012G>A	ENST00000370460.2	+	20	4218	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	AFF2_ENST00000342251.3_Missense_Mutation_p.V1214I|AFF2_ENST00000370457.5_Missense_Mutation_p.V1212I|AFF2_ENST00000286437.5_Missense_Mutation_p.V888I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1247					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGCCACGTCAACATCAC	0.498																																																	0													206	160	175					X																	148069012		2203	4300	6503	SO:0001583	missense	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3739G>A	X.37:g.148069012G>A	ENSP00000359489:p.Val1247Ile		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.V1247I	ENST00000370460.2	37	c.3739	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876190	0.91664	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	D	0.87881	0.6289	M	0.85859	2.78	0.54753	D	0.99998	P;D;D;D;D;D	0.76494	0.776;0.991;0.99;0.999;0.999;0.999	P;D;D;D;D;D	0.74348	0.613;0.983;0.937;0.924;0.924;0.954	D	0.88319	0.2961	10	0.49607	T	0.09	.	18.9513	0.92642	0.0:0.0:1.0:0.0	.	888;1212;1212;1208;1237;1247	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	I	1247;1212;1214;888	ENSP00000359489:V1247I;ENSP00000359486:V1212I;ENSP00000345459:V1214I;ENSP00000286437:V888I	ENSP00000286437:V888I	V	+	1	0	AFF2	147876718	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	6.533000	0.73829	2.423000	0.82170	0.600000	0.82982	GTC	AFF2	-	pfam_TF_AF4/FMR2	ENSG00000155966		0.498	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	-	0	47	0	G	NM_002025		148069012	1	tier1	-	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	A	A	148069012	G	A	148069012	3	1	87	1	0	0	0	0	1	0	0	0	357	1145	40	1	3872	1	AFF2	23	148069012	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	3164614	148069012	7201548	2018	25142											
HMGB3	3149	genome.wustl.edu	37	chrX	150155677	150155677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcatctctattggagacGtggcaaaaaagctgggtgag	11	8	14	8	2	1	2	0	1	1	1	2	3	1	2	1	4	1	3	1	4	4	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:150155677G>A	ENST00000325307.7	+	4	463	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	HMGB3_ENST00000448905.2_Missense_Mutation_p.V123M	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	123					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TATTGGAGACGTGGCAAAAAA	0.433																																																	0													42	42	42					X																	150155677		2202	4295	6497	SO:0001583	missense	0			AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"High-mobility group / Canonical"	5004	protein-coding gene	gene with protein product	"non-histone chromosomal protein"	300193	"high-mobility group (nonhistone chromosomal) protein 4", "high-mobility group box 3"	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.367G>A	X.37:g.150155677G>A	ENSP00000359393:p.Val123Met		O95556|Q6NS40	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.V123M	ENST00000325307.7	37	c.367	CCDS35428.1	X	.	.	.	.	.	.	.	.	.	.	g	18.57	3.652076	0.67472	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	4.95	4.95	0.65309	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000002	D	0.98488	0.9496	M	0.88906	2.99	0.45995	D	0.9988	D	0.62365	0.991	P	0.50314	0.637	D	0.99338	1.0911	10	0.72032	D	0.01	.	16.2551	0.82510	0.0:0.0:1.0:0.0	.	123	O15347	HMGB3_HUMAN	M	123	ENSP00000410354:V123M;ENSP00000359393:V123M;ENSP00000405601:V123M;ENSP00000442758:V123M;ENSP00000417027:V123M	ENSP00000359393:V123M	V	+	1	0	HMGB3	149906335	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	4.654000	0.61469	2.033000	0.60031	0.529000	0.55759	GTG	HMGB3	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000029993		0.433	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HMGB3	HGNC	protein_coding	OTTHUMT00000060867.1	-	0	84	0	G	NM_005342		150155677	1	tier1	-	no_errors	ENST00000325307	ensembl	human	known	74_37	missense	55.26	17	21	SNP	0.998	A	A	150155677	G	A	150155677	3	1	87	1	0	0	0	0	1	0	0	0	7254	1145	40	1	377	1	HMGB3	23	150155677	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	2086665	150155677	5114883	2019	25143											
MAGEA5	4104	genome.wustl.edu	37	chrX	151283730	151283730	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtcaggggaggtgcttgGcccctcctcttcttggttgc	2	13	15	11	0	3	0	1	0	2	0	4	1	4	1	3	6	2	2	3	6	0	4			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:151283730G>A	ENST00000509345.2	-	0	606																											GAGGTGCTTGGCCCCTCCTCT	0.527																																																	0													92	85	88					X																	151283730		2203	4300	6503			0																															X.37:g.151283730G>A				RNA	SNP	-	NULL	ENST00000509345.2	37	NULL		X																																																																																			RP11-1007I13.4	-	-	ENSG00000266560		0.527	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000266560	Clone_based_vega_gene	processed_transcript	OTTHUMT00000445981.1	-	0	77	0	G			151283730	-1	tier1	-	no_errors	ENST00000509345	ensembl	human	known	74_37	rna	17.31	43	9	SNP	0.000	A	A	151283730	G	A	151283730	1	1	87	0	1	0	0	0	0	0	0	0	9205	1203	42	3		3	MAGEA5	23	151283730	RNA	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	1128053	151283730	3986830	2020	25144											
DUSP9	1852	genome.wustl.edu	37	chrX	152915674	152915674	+	Frame_Shift_Del	DEL	G	G	-																															actcgcaggagcagggcagtGgggggcaggcatctgcggcc																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:152915674delG	ENST00000342782.3	+	4	1334	c.1069delG	c.(1069-1071)gggfs	p.G358fs	DUSP9_ENST00000370167.4_Frame_Shift_Del_p.G358fs			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	358	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCAGTGGGGGGCAGGC	0.662																																																	0													83	74	77					X																	152915674		2203	4300	6503	SO:0001589	frameshift_variant	0			Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3076	protein-coding gene	gene with protein product	"map kinase phosphatase 4"	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1069delG	X.37:g.152915674delG	ENSP00000345853:p.Gly358fs		D3DWU5	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.Q359fs	ENST00000342782.3	37	c.1069	CCDS14724.1	X																																																																																			DUSP9	-	pirsf_MKP	ENSG00000130829		0.662	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUSP9	HGNC	protein_coding	OTTHUMT00000061022.3		0	60	0	G	NM_001395		152915674	1	tier1		no_errors	ENST00000342782	ensembl	human	known	74_37	frame_shift_del	19.35	50	12	DEL	0.150	-	-	152915674	G	-	152915674	7	5	87	1	0	1	0	1	0	0	0	0	4846	1348	47	0	1079	0	DUSP9	23	152915674	Frame_Shift_Del	DEL	G	TCGA-L5-A8NM-01A-11D-A37C-09	1631944	152915674	2354886	2021	25145											
ABCD1	215	genome.wustl.edu	37	chrX	153009046	153009046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggaggagaagcagcggCtggagcagcagctggcgggc	9	3	20	9	3	0	2	0	1	0	1	0	5	0	4	0	6	5	5	0	6	1	0			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153009046C>T	ENST00000218104.3	+	10	2494	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	699	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCAGCGGCTGGAGCAGCA	0.662																																																	0													8	9	9					X																	153009046		2173	4263	6436	SO:0001819	synonymous_variant	0			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"ATP binding cassette transporters / subfamily D"	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.2095C>T	X.37:g.153009046C>T			Q6GTZ2	Silent	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.L699	ENST00000218104.3	37	c.2095	CCDS14728.1	X																																																																																			ABCD1	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000101986		0.662	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	-	0	94	0	C	NM_000033		153009046	1	tier1	-	no_errors	ENST00000218104	ensembl	human	known	74_37	silent	8.47	54	5	SNP	1.000	T	T	153009046	C	T	153009046	2	4	87	1	0	0	0	0	0	0	0	1	60	796	28	3		3	ABCD1	23	153009046	Silent	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	93372	153009046	2261514	2022	25146											
PLXNB3	5365	genome.wustl.edu	37	chrX	153043747	153043747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaactgctctacgcccGggagatcccacgctacaagc	12	5	9	15	3	1	1	0	0	1	1	2	3	2	1	2	1	6	2	2	1	5	2	rs369580403		TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153043747G>A	ENST00000361971.5	+	33	5555	c.5441G>A	c.(5440-5442)cGg>cAg	p.R1814Q	SRPK3_ENST00000393786.3_5'Flank|PLXNB3_ENST00000485980.1_3'UTR|SRPK3_ENST00000489426.1_5'UTR|SRPK3_ENST00000370108.3_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1837Q|SRPK3_ENST00000370101.3_5'Flank|SRPK3_ENST00000370104.1_5'Flank|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R1467Q|SRPK3_ENST00000370100.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1814					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTACGCCCGGGAGATCCCA	0.642																																																	0								G	GLN/ARG,GLN/ARG	0,3834		0,0,1632,570	58	56	56		5510,5441	3.3	1	X		56	1,6727		0,1,2427,1872	no	missense,missense	PLXNB3	NM_001163257.1,NM_005393.2	43,43	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	1837/1933,1814/1910	153043747	1,10561	2202	4300	6502	SO:0001583	missense	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.5441G>A	X.37:g.153043747G>A	ENSP00000355378:p.Arg1814Gln		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1837Q	ENST00000361971.5	37	c.5510	CCDS14729.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.925501|4.925501	0.92319|0.92319	0.0|0.0	1.49E-4|1.49E-4	ENSG00000198753|ENSG00000198753	ENST00000448847|ENST00000538966;ENST00000361971;ENST00000538776	.|T;T;T	.|0.12774	.|2.65;2.65;2.65	5.22|5.22	3.34|3.34	0.38264|0.38264	.|Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	.|0.051037	.|0.85682	.|N	.|0.000000	T|T	0.38480|0.38480	0.1042|0.1042	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.993;1.0	T|T	0.17258|0.17258	-1.0375|-1.0375	5|10	.|0.87932	.|D	.|0	.|.	10.0051|10.0051	0.41953|0.41953	0.1838:0.0:0.8162:0.0|0.1838:0.0:0.8162:0.0	.|.	.|1467;1837;1814	.|B7Z3H9;F5H773;Q9ULL4	.|.;.;PLXB3_HUMAN	R|Q	173|1837;1814;1467	.|ENSP00000442736:R1837Q;ENSP00000355378:R1814Q;ENSP00000445569:R1467Q	.|ENSP00000355378:R1814Q	G|R	+|+	1|2	0|0	PLXNB3|PLXNB3	152696941|152696941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.829000|0.829000	0.46940|0.46940	7.745000|7.745000	0.85046|0.85046	0.449000|0.449000	0.26747|0.26747	-0.395000|-0.395000	0.06472|0.06472	GGG|CGG	PLXNB3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000198753		0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-	0	80	0	G			153043747	1	tier1	-	no_errors	ENST00000538966	ensembl	human	known	74_37	missense	13.56	51	8	SNP	1.000	A	A	153043747	G	A	153043747	3	1	87	1	0	0	0	0	1	0	0	0	12164	1116	39	1	5685	1	PLXNB3	23	153043747	Missense_Mutation	SNP	G	TCGA-L5-A8NM-01A-11D-A37C-09	34701	153043747	2226813	2023	25147											
HCFC1	3054	genome.wustl.edu	37	chrX	153220903	153220903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttctgtagtcggggaggCcagaatggacacagggaggt	9	8	17	7	1	1	1	0	0	1	1	2	4	1	4	1	6	0	2	1	6	2	2			TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153220903C>T	ENST00000310441.7	-	17	3913	c.2947G>A	c.(2947-2949)Gcc>Acc	p.A983T	HCFC1_ENST00000354233.3_Missense_Mutation_p.A914T|HCFC1_ENST00000369984.4_Missense_Mutation_p.A983T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	983					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCGGGGAGGCCAGAATGGAC	0.637																																																	0													48	49	48					X																	153220903		2191	4258	6449	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2947G>A	X.37:g.153220903C>T	ENSP00000309555:p.Ala983Thr		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.A983T	ENST00000310441.7	37	c.2947	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710169	0.68730	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04275	3.67;3.66;3.74	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.16769	0.0403	L	0.50333	1.59	0.53688	D	0.999977	D	0.63880	0.993	D	0.70935	0.971	T	0.00327	-1.1814	10	0.54805	T	0.06	.	16.546	0.84445	0.0:1.0:0.0:0.0	.	983	P51610	HCFC1_HUMAN	T	983;983;914	ENSP00000309555:A983T;ENSP00000359001:A983T;ENSP00000346174:A914T	ENSP00000309555:A983T	A	-	1	0	HCFC1	152874097	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	7.006000	0.76329	2.163000	0.67991	0.529000	0.55759	GCC	HCFC1	-	NULL	ENSG00000172534		0.637	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4		0	44	0	C	NM_005334		153220903	-1			no_errors	ENST00000310441	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T	T	153220903	C	T	153220903	3	4	87	1	0	0	0	0	1	0	0	0	7018	739	26	3	3200	3	HCFC1	23	153220903	Missense_Mutation	SNP	C	TCGA-L5-A8NM-01A-11D-A37C-09	177156	153220903	2049657	2024	25148											
FLNA	2316	genome.wustl.edu	37	chrX	153581543	153581543	+	Frame_Shift_Del	DEL	C	C	-																															cttcacatgcaccaggtgctCccccgtctccttgggcacga																										TCGA-L5-A8NM-01A-11D-A37C-09	TCGA-L5-A8NM-11A-12D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	04c9b5fa-4d01-4dd3-ae7f-b522a777bab5	947478b1-8569-4340-8891-abc84e887f22	g.chrX:153581543delC	ENST00000369850.3	-	38	6288	c.6052delG	c.(6052-6054)gagfs	p.E2018fs	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Frame_Shift_Del_p.E1978fs|FLNA_ENST00000422373.1_Frame_Shift_Del_p.E2010fs|FLNA_ENST00000369856.3_Frame_Shift_Del_p.E151fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.E2010fs	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2018					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGGTGCTCCCCCGTCTCC	0.612																																																	0													70	75	73					X																	153581543		2119	4178	6297	SO:0001589	frameshift_variant	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6052delG	X.37:g.153581543delC	ENSP00000358866:p.Glu2018fs		E9KL45|Q5HY53|Q5HY55|Q8NF52	Frame_Shift_Del	DEL	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E2018fs	ENST00000369850.3	37	c.6052	CCDS48194.1	X																																																																																			FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.612	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3		0	76	0	C			153581543	-1	tier1		no_errors	ENST00000369850	ensembl	human	known	74_37	frame_shift_del	13.95	37	6	DEL	1.000	-	-	153581543	C	-	153581543	7	5	87	1	0	1	0	1	0	0	0	0	5955	864	30	0	1935	0	FLNA	23	153581543	Frame_Shift_Del	DEL	C	TCGA-L5-A8NM-01A-11D-A37C-09	360640	153581543	1689017	2025	25149											
RSC1A1	6248	genome.wustl.edu	37	chr1	15988150	15988150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agctcttggagctttgcatcGagttggtgggaatgcagacc	8	11	14	8	1	1	1	0	0	1	1	2	4	1	3	1	3	4	5	1	3	1	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:15988150G>C	ENST00000345034.1	+	1	1787	c.1787G>C	c.(1786-1788)cGa>cCa	p.R596P	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	596	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTGCATCGAGTTGGTGGG	0.478																																																	0													158	149	152					1																	15988150		2203	4300	6503	SO:0001583	missense	0			BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.1787G>C	1.37:g.15988150G>C	ENSP00000341963:p.Arg596Pro		B2RBP5	Missense_Mutation	SNP	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.R596P	ENST00000345034.1	37	c.1787	CCDS161.1	1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648714	0.29336	.	.	ENSG00000215695	ENST00000345034	T	0.55413	0.52	5.96	0.702	0.18110	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);	0.401734	0.18644	N	0.135181	T	0.46210	0.1381	N	0.08118	0	0.32934	D	0.517467	D	0.71674	0.998	D	0.65987	0.94	T	0.57556	-0.7791	10	0.72032	D	0.01	4.9485	8.6932	0.34280	0.5755:0.0:0.4245:0.0	.	596	Q92681	RSCA1_HUMAN	P	596	ENSP00000341963:R596P	ENSP00000341963:R596P	R	+	2	0	RSC1A1	15860737	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.888000	0.28268	0.081000	0.16988	-0.150000	0.13652	CGA	RSC1A1	-	superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	ENSG00000215695		0.478	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSC1A1	HGNC	protein_coding	OTTHUMT00000145500.1	-	0	65	0	G	NM_006511		15988150	1	tier1	-	no_errors	ENST00000345034	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C	C	15988150	G	C	15988150	3	2	88	1	0	0	0	0	1	0	0	0	13743	1058	37	5	1789	5	RSC1A1	1	15988150	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		15988150	233262471	1	25150											
ARHGEF10L	55160	genome.wustl.edu	37	chr1	18021674	18021674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagaagcacttgtgtgtcaCcagcctcctgatctgccagg	8	9	10	14	0	2	2	1	1	1	1	3	2	3	2	5	1	3	1	5	1	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:18021674C>T	ENST00000361221.3	+	28	3365	c.3206C>T	c.(3205-3207)aCc>aTc	p.T1069I	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.T1030I|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.T842I|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.T772I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.T1030I	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1069						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGTGTGTCACCAGCCTCCTG	0.632																																																	0													94	90	91					1																	18021674		2203	4300	6503	SO:0001583	missense	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3206C>T	1.37:g.18021674C>T	ENSP00000355060:p.Thr1069Ile		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.T1069I	ENST00000361221.3	37	c.3206	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943819	0.73672	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.87	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.129178	0.50627	D	0.000102	T	0.63141	0.2486	M	0.87682	2.9	0.49051	D	0.999742	P;P;P;D;D;P;P	0.58620	0.955;0.893;0.946;0.971;0.983;0.842;0.846	P;B;P;P;P;P;B	0.61328	0.774;0.409;0.668;0.846;0.887;0.603;0.398	T	0.71126	-0.4683	10	0.87932	D	0	-36.9391	16.7403	0.85457	0.0:1.0:0.0:0.0	.	842;842;772;830;1025;1030;1069	Q5VXI4;B4DTL3;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	I	1069;1030;1030;842;842;772	ENSP00000355060:T1069I;ENSP00000399401:T1030I;ENSP00000364564:T1030I;ENSP00000364557:T842I;ENSP00000167825:T772I	ENSP00000167825:T772I	T	+	2	0	ARHGEF10L	17894261	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.366000	0.59492	2.505000	0.84491	0.563000	0.77884	ACC	ARHGEF10L	-	superfamily_WD40_repeat_dom	ENSG00000074964		0.632	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1		0	77	0	C	NM_018125		18021674	1			no_errors	ENST00000361221	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	18021674	C	T	18021674	3	4	88	1	0	0	0	0	1	0	0	0	895	507	18	3	3312	3	ARHGEF10L	1	18021674	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	2033524	18021674	231228947	2	25151											
CELA3A	10136	genome.wustl.edu	37	chr1	22333419	22333419	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcgcccagctgggagaTgccgtccagctcgcctcact	6	6	12	17	4	1	1	1	0	0	1	3	2	2	1	4	1	4	3	4	1	0	0	rs138658162	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:22333419T>C	ENST00000290122.3	+	5	430	c.411T>C	c.(409-411)gaT>gaC	p.D137D		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	137	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCTGGGAGATGCCGTCCAGC	0.637													C|||	16	0.00319489	0.0098	0.0029	5008	,	,		17200	0		0.001	False		,,,				2504	0																0													115	101	106					1																	22333419		2198	4300	6498	SO:0001819	synonymous_variant	0			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"protease E"		"elastase 3A, pancreatic (protease E)", "elastase 3A, pancreatic"	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.411T>C	1.37:g.22333419T>C			B1AQ53|Q9BRW4	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D137	ENST00000290122.3	37	c.411	CCDS220.1	1																																																																																			CELA3A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000142789		0.637	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	-	0	89	0	T	NM_005747		22333419	1	tier1	rs138658162	no_errors	ENST00000290122	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.000	C	C	22333419	T	C	22333419	2	2	88	1	0	0	0	0	0	0	0	1	3220	1461	51	4		4	CELA3A	1	22333419	Silent	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	4311745	22333419	226917202	3	25152											
IPP	3652	genome.wustl.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-																															aaagcatagatagccccataAcacacacacactcctaagcc																								rs144663569		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"Kelch-like", "BTB/POZ domain containing"	6108	protein-coding gene	gene with protein product	"kelch-like family member 27"	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs		A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.C388fs	ENST00000396478.3	37	c.1164_1163	CCDS30702.1	1																																																																																			IPP	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197429		0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	IPP	HGNC	protein_coding	OTTHUMT00000021974.3		0	27	0	AC	NM_005897		46184898	-1	tier1		no_errors	ENST00000396478	ensembl	human	known	74_37	frame_shift_del	12.50	28	4	DEL	1.000:1.000	-	-	46184898	AC	-	46184897	7	5	88	1	0	1	0	1	0	0	0	0	7827	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-L5-A8NN-01A-11D-A37C-09	23851478	46184897	203065724	4	25153											
SEMA6C	10500	genome.wustl.edu	37	chr1	151109436	151109436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagaaagtagagtcccCagggacagagcagttgagcc	16	5	12	8	0	0	4	0	1	0	3	1	5	1	5	3	1	2	3	3	1	5	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:151109436C>T	ENST00000341697.3	-	11	2562	c.871G>A	c.(871-873)Ggg>Agg	p.G291R				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	291	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTAGAGTCCCCAGGGACAGAG	0.567																																																	0													105	112	110					1																	151109436		2203	4300	6503	SO:0001583	missense	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.871G>A	1.37:g.151109436C>T	ENSP00000344148:p.Gly291Arg		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.G291R	ENST00000341697.3	37	c.871	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	30	5.051522	0.93793	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	H	0.95884	3.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.75836	-0.3177	10	0.87932	D	0	.	15.1613	0.72788	0.0:1.0:0.0:0.0	.	291;251;291;291	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	R	291;251;291;291;291	ENSP00000357910:G291R;ENSP00000357908:G251R;ENSP00000357909:G291R;ENSP00000344148:G291R	ENSP00000344148:G291R	G	-	1	0	SEMA6C	149376060	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.609000	0.82925	2.434000	0.82447	0.561000	0.74099	GGG	SEMA6C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000143434		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1		0	65	0	C	NM_030913		151109436	-1			no_errors	ENST00000368913	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	151109436	C	T	151109436	3	4	88	1	0	0	0	0	1	0	0	0	14086	594	21	3	2057	3	SEMA6C	1	151109436	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	104924539	151109436	98141185	5	25154											
HRNR	388697	genome.wustl.edu	37	chr1	152186614	152186614	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctccatgttggccacagctCgatgactgtcctgatgtaga	8	11	11	11	1	0	3	0	2	0	1	3	4	2	3	3	1	1	4	3	1	1	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:152186614C>G	ENST00000368801.2	-	3	7566	c.7491G>C	c.(7489-7491)tcG>tcC	p.S2497S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2497					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.557																																																	0													1	1	1					1																	152186614		84	271	355	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7491G>C	1.37:g.152186614C>G			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S2497	ENST00000368801.2	37	c.7491	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	18	0	C	XM_373868		152186614	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.000	G	G	152186614	C	G	152186614	2	3	88	1	0	0	0	0	0	0	0	1	7386	871	31	5		5	HRNR	1	152186614	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1077178	152186614	97064007	6	25155											
NES	10763	genome.wustl.edu	37	chr1	156640094	156640094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccaggggagtggagtctgGaagggtctccccgagctcat	7	7	16	11	1	3	0	1	0	2	0	4	4	3	3	3	5	1	1	3	5	1	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:156640094G>T	ENST00000368223.3	-	4	4018	c.3886C>A	c.(3886-3888)Cca>Aca	p.P1296T		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1296	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGAGTCTGGAAGGGTCTCC	0.657																																																	0													72	85	80					1																	156640094		2203	4300	6503	SO:0001583	missense	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3886C>A	1.37:g.156640094G>T	ENSP00000357206:p.Pro1296Thr		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	pfam_IF	p.P1296T	ENST00000368223.3	37	c.3886	CCDS1151.1	1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651035	0.29336	.	.	ENSG00000132688	ENST00000368223	D	0.95724	-3.79	4.79	3.87	0.44632	.	0.000000	0.31949	N	0.006817	D	0.94135	0.8119	M	0.65498	2.005	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	D	0.88742	0.3244	10	0.87932	D	0	.	7.1699	0.25712	0.0968:0.1715:0.7318:0.0	.	1296	P48681	NEST_HUMAN	T	1296	ENSP00000357206:P1296T	ENSP00000357206:P1296T	P	-	1	0	NES	154906718	0.970000	0.33590	0.068000	0.19968	0.287000	0.27160	4.871000	0.63042	2.207000	0.71202	0.557000	0.71058	CCA	NES	-	NULL	ENSG00000132688		0.657	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	-	0	52	0	G	NM_006617		156640094	-1	tier1	-	no_errors	ENST00000368223	ensembl	human	known	74_37	missense	71.05	22	54	SNP	0.010	T	T	156640094	G	T	156640094	3	4	88	1	0	0	0	0	1	0	0	0	10376	1174	41	3	983	3	NES	1	156640094	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	4453480	156640094	92610527	7	25156											
NTRK1	4914	genome.wustl.edu	37	chr1	156849819	156849819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaccatgctgcccattcGctggatgccgcccgagagca	7	6	11	17	4	0	1	0	0	0	1	1	3	0	2	5	1	4	4	5	1	0	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:156849819G>A	ENST00000524377.1	+	16	2116	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	NTRK1_ENST00000392302.2_Missense_Mutation_p.R656H|NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000358660.3_Missense_Mutation_p.R689H|NTRK1_ENST00000368196.3_Missense_Mutation_p.R686H	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTGCCCATTCGCTGGATGCCG	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)																														Dom	yes		1	1q21-q22	4914	"neurotrophic tyrosine kinase, receptor, type 1"		E	0													57	56	57					1																	156849819		2203	4300	6503	SO:0001583	missense	0			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8031	protein-coding gene	gene with protein product	"high affinity nerve growth factor receptor"	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2075G>A	1.37:g.156849819G>A	ENSP00000431418:p.Arg692His		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt	p.R692H	ENST00000524377.1	37	c.2075	CCDS1161.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.228754	0.95173	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.23	4.23	0.50019	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000028	D	0.89753	0.6806	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.968;0.995	D	0.91180	0.4975	10	0.87932	D	0	.	15.7052	0.77573	0.0:0.0:1.0:0.0	.	689;686;692;656	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	H	656;686;692;689	ENSP00000376120:R656H;ENSP00000357179:R686H;ENSP00000431418:R692H;ENSP00000351486:R689H	ENSP00000351486:R689H	R	+	2	0	NTRK1	155116443	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.239000	0.95389	2.362000	0.80069	0.561000	0.74099	CGC	NTRK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000198400		0.647	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTRK1	HGNC	protein_coding	OTTHUMT00000392279.1	-	0	60	0	G	NM_002529		156849819	1	tier1	-	no_errors	ENST00000524377	ensembl	human	known	74_37	missense	71.15	15	37	SNP	1.000	A	A	156849819	G	A	156849819	3	1	88	1	0	0	0	0	1	0	0	0	10745	1087	38	1	2267	1	NTRK1	1	156849819	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	209725	156849819	92400802	8	25157											
SPTA1	6708	genome.wustl.edu	37	chr1	158621225	158621225	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatcagctaccttgttgaTatcccttagccgaggctcat	9	13	7	12	1	3	1	3	1	0	0	4	2	4	1	3	1	3	3	3	1	3	5	rs536551499		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:158621225T>A	ENST00000368147.4	-	24	3589	c.3409A>T	c.(3409-3411)Atc>Ttc	p.I1137F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1137					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTGTTGATATCCCTTAGC	0.433																																																	0													222	218	219					1																	158621225		1871	4101	5972	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3409A>T	1.37:g.158621225T>A	ENSP00000357129:p.Ile1137Phe		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.I1137F	ENST00000368147.4	37	c.3409	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631042	0.87660	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56611	0.45;0.45	4.66	4.66	0.58398	.	.	.	.	.	T	0.61565	0.2357	M	0.69823	2.125	0.53005	D	0.999963	D	0.63046	0.992	D	0.65684	0.937	T	0.65602	-0.6128	9	0.54805	T	0.06	.	13.3826	0.60778	0.0:0.0:0.0:1.0	.	1137	P02549	SPTA1_HUMAN	F	1137	ENSP00000357130:I1137F;ENSP00000357129:I1137F	ENSP00000357129:I1137F	I	-	1	0	SPTA1	156887849	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.331000	0.65905	2.081000	0.62600	0.533000	0.62120	ATC	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0	58	0	T	NM_003126		158621225	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	60.81	29	45	SNP	1.000	A	A	158621225	T	A	158621225	3	1	88	1	0	0	0	0	1	0	0	0	15163	1406	49	5	3966	5	SPTA1	1	158621225	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	1771406	158621225	90629396	9	25158											
C1orf129	80133	genome.wustl.edu	37	chr1	170934323	170934323	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgagtaaagatagctCatatctgcaagagagaataa	17	9	11	4	0	2	4	1	1	1	3	2	6	2	5	0	1	2	3	0	1	7	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:170934323C>A	ENST00000367758.3	+	7	506	c.407C>A	c.(406-408)tCa>tAa	p.S136*	MROH9_ENST00000367759.4_Nonsense_Mutation_p.S136*	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	136								p.S136*(2)									AAAGATAGCTCATATCTGCAA	0.358																																																	2	Substitution - Nonsense(2)	lung(2)											147	138	141					1																	170934323		1872	4109	5981	SO:0001587	stop_gained	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"maestro heat-like repeat containing"	26287	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 129"	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.407C>A	1.37:g.170934323C>A	ENSP00000356732:p.Ser136*		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S136*	ENST00000367758.3	37	c.407	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917461	0.73098	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.54	-7.36	0.01417	.	1.437920	0.04637	N	0.404705	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0792	4.5129	0.11921	0.1067:0.1966:0.1143:0.5824	.	.	.	.	X	136	.	ENSP00000356732:S136X	S	+	2	0	C1orf129	169200947	0.000000	0.05858	0.000000	0.03702	0.152000	0.21847	-1.691000	0.01920	-1.014000	0.03379	0.455000	0.32223	TCA	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.358	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1		0	41	0	C	NM_025063		170934323	1			no_errors	ENST00000367759	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.000	A	A	170934323	C	A	170934323	4	1	88	1	0	0	0	0	0	1	0	0	2003	838	29	3	429	3	C1orf129	1	170934323	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	12313098	170934323	78316298	10	25159											
RGS2	5997	genome.wustl.edu	37	chr1	192779527	192779527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgaggaagcacagctgtgGtcagaagcatttgacgagct	11	8	13	9	1	1	3	1	2	0	1	1	5	1	4	1	2	4	4	1	2	2	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:192779527G>T	ENST00000235382.5	+	3	271	c.240G>T	c.(238-240)tgG>tgT	p.W80C	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	80	Necessary to inhibit protein synthesis.				brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						CACAGCTGTGGTCAGAAGCAT	0.483																																					Pancreas(71;51 2183 4981)												0													119	115	116					1																	192779527		2203	4300	6503	SO:0001583	missense	0			L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"Regulators of G-protein signaling", "Endogenous ligands"	9998	protein-coding gene	gene with protein product		600861	"regulator of G-protein signalling 2, 24kD", "regulator of G-protein signalling 2, 24kDa", "regulator of G-protein signaling 2, 24kDa"	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.240G>T	1.37:g.192779527G>T	ENSP00000235382:p.Trp80Cys		Q6I9U5	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.W80C	ENST00000235382.5	37	c.240	CCDS1377.1	1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842871	0.91197	.	.	ENSG00000116741	ENST00000235382	T	0.67698	-0.28	5.81	5.81	0.92471	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76844	-0.2809	10	0.87932	D	0	.	18.6401	0.91392	0.0:0.0:1.0:0.0	.	80	P41220	RGS2_HUMAN	C	80	ENSP00000235382:W80C	ENSP00000235382:W80C	W	+	3	0	RGS2	191046150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.827000	0.99397	2.756000	0.94617	0.655000	0.94253	TGG	RGS2	-	superfamily_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000116741		0.483	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS2	HGNC	protein_coding	OTTHUMT00000086396.1	-	0	36	0	G	NM_002923		192779527	1	tier1	-	no_errors	ENST00000235382	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	192779527	G	T	192779527	3	4	88	1	0	0	0	0	1	0	0	0	13347	1270	44	3	250	3	RGS2	1	192779527	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	21845204	192779527	56471094	11	25160											
IGFN1	91156	genome.wustl.edu	37	chr1	201174426	201174426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcacgtttctcagacatggGcccctattcgctgggcaccg	6	9	12	14	3	1	1	1	0	1	1	3	1	1	1	3	3	0	4	3	3	1	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:201174426G>T	ENST00000335211.4	+	11	1263	c.1133G>T	c.(1132-1134)gGc>gTc	p.G378V	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Missense_Mutation_p.G378V	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	378	Ig-like 2.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAGACATGGGCCCCTATTCG	0.592																																																	0													27	26	26					1																	201174426		692	1591	2283	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1133G>T	1.37:g.201174426G>T	ENSP00000334714:p.Gly378Val		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G378V	ENST00000335211.4	37	c.1133	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.778737	0.70107	.	.	ENSG00000163395	ENST00000335211;ENST00000451870	D;D	0.84370	-1.84;-1.84	4.77	4.77	0.60923	.	.	.	.	.	D	0.93145	0.7817	M	0.90977	3.165	0.80722	D	1	.	.	.	.	.	.	D	0.94611	0.7804	7	0.87932	D	0	.	15.0637	0.71977	0.0:0.0:1.0:0.0	.	.	.	.	V	378	ENSP00000334714:G378V;ENSP00000398386:G378V	ENSP00000334714:G378V	G	+	2	0	IGFN1	199441049	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.727000	0.84838	2.343000	0.79666	0.655000	0.94253	GGC	IGFN1	-	smart_Ig_sub	ENSG00000163395		0.592	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding			0	59	0	G	NM_178275		201174426	1			no_errors	ENST00000335211	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	201174426	G	T	201174426	3	4	88	1	0	0	0	0	1	0	0	0	7617	1203	42	3	1171	3	IGFN1	1	201174426	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	8394899	201174426	48076195	12	25161											
GPR137B	7107	genome.wustl.edu	37	chr1	236306259	236306259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattcgctcagccccttcGtcttctggctgctctactgc	4	13	7	17	2	4	0	1	0	3	0	6	0	4	0	3	1	4	3	3	1	2	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:236306259G>A	ENST00000366592.3	+	1	428	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	GPR137B_ENST00000366591.4_Missense_Mutation_p.V113I	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	113						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAGCCCCTTCGTCTTCTGGCT	0.557																																																	0													139	133	135					1																	236306259		2203	4300	6503	SO:0001583	missense	0			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"transmembrane 7 superfamily member 1 (upregulated in kidney)"	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.337G>A	1.37:g.236306259G>A	ENSP00000355551:p.Val113Ile		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NULL	p.V113I	ENST00000366592.3	37	c.337	CCDS1609.1	1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.643190	0.29246	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;D	0.91295	1.98;-2.82	4.89	2.93	0.34026	.	0.636933	0.16938	N	0.193396	T	0.76659	0.4018	N	0.08118	0	0.31491	N	0.665955	B	0.06786	0.001	B	0.04013	0.001	T	0.66492	-0.5910	10	0.17832	T	0.49	-12.9181	6.2427	0.20800	0.1554:0.3052:0.5394:0.0	.	113	O60478	G137B_HUMAN	I	113;113;112	ENSP00000355551:V113I;ENSP00000355550:V113I	ENSP00000355550:V113I	V	+	1	0	GPR137B	234372882	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	0.899000	0.28417	0.428000	0.26173	0.549000	0.68633	GTC	GPR137B	-	NULL	ENSG00000077585		0.557	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	HGNC	protein_coding	OTTHUMT00000092761.1	-	0	23	0	G	NM_003272		236306259	1	tier1	-	no_errors	ENST00000366592	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	A	A	236306259	G	A	236306259	3	1	88	1	0	0	0	0	1	0	0	0	6672	1145	40	1	339	1	GPR137B	1	236306259	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	35131833	236306259	12944362	13	25162											
OR2T2	401992	genome.wustl.edu	37	chr1	248616764	248616764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctgtctcctacacgcacatCctcctgactgtccacaggat	8	11	6	16	1	2	1	0	1	2	0	6	2	5	2	4	1	1	1	4	1	1	1	rs376553658		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																																	0													182	125	144					1																	248616764		2186	4264	6450	SO:0001819	synonymous_variant	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T			B2RNM1|B9EH01	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I222	ENST00000342927.3	37	c.666	CCDS31116.1	1																																																																																			OR2T2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	-	0	23	0	C	NM_001004136		248616764	1	tier1	-	no_errors	ENST00000342927	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.001	T	T	248616764	C	T	248616764	2	4	88	1	0	0	0	0	0	0	0	1	11059	845	30	3		3	OR2T2	1	248616764	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	12310505	248616764	633857	14	25163											
OR2T3	343173	genome.wustl.edu	37	chr1	248637563	248637563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcaacaaagatgtcaccagGgctctgaggagcatgatgca	13	6	12	10	1	2	3	1	2	1	1	2	4	2	4	1	2	3	4	1	2	2	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr1:248637563G>T	ENST00000359594.2	+	1	937	c.912G>T	c.(910-912)agG>agT	p.R304S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGTCACCAGGGCTCTGAGGA	0.473																																																	0													150	161	157					1																	248637563		2202	4295	6497	SO:0001583	missense	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.912G>T	1.37:g.248637563G>T	ENSP00000352604:p.Arg304Ser		B2RNJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R304S	ENST00000359594.2	37	c.912	CCDS31117.1	1	.	.	.	.	.	.	.	.	.	.	g	8.809	0.934716	0.18206	.	.	ENSG00000196539	ENST00000359594	T	0.38401	1.14	2.37	-2.08	0.07254	.	.	.	.	.	T	0.16300	0.0392	N	0.11064	0.09	0.09310	N	1	B	0.25563	0.129	B	0.23275	0.045	T	0.20075	-1.0286	9	0.72032	D	0.01	.	3.9228	0.09251	0.1451:0.0:0.2971:0.5578	.	304	Q8NH03	OR2T3_HUMAN	S	304	ENSP00000352604:R304S	ENSP00000352604:R304S	R	+	3	2	OR2T3	246704186	0.000000	0.05858	0.001000	0.08648	0.069000	0.16628	-3.121000	0.00595	-0.308000	0.08792	0.186000	0.17326	AGG	OR2T3	-	pfam_7TM_GPCR_olfarory/Srsx	ENSG00000196539		0.473	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1	-	0	255	0	G	NM_001005495		248637563	1	tier1	-	no_errors	ENST00000359594	ensembl	human	known	74_37	missense	35.55	164	91	SNP	0.003	T	T	248637563	G	T	248637563	3	4	88	1	0	0	0	0	1	0	0	0	11062	1223	43	3	914	3	OR2T3	1	248637563	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	20799	248637563	613058	15	25164											
DNAH6	1768	genome.wustl.edu	37	chr2	84800703	84800703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaagctcttaaacttcAggaacctggtaacttgtcca	12	13	6	10	0	2	0	1	0	1	0	3	1	3	1	2	2	5	2	2	2	6	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:84800703A>T	ENST00000237449.6	+	11	1924	c.1916A>T	c.(1915-1917)cAg>cTg	p.Q639L	DNAH6_ENST00000389394.3_Missense_Mutation_p.Q639L|DNAH6_ENST00000398278.2_Missense_Mutation_p.Q639L			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	639	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q639L(1)|p.Q218L(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAAACTTCAGGAACCTGGT	0.378																																																	2	Substitution - Missense(2)	lung(2)											92	103	100					2																	84800703		2202	4300	6502	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1916A>T	2.37:g.84800703A>T	ENSP00000237449:p.Gln639Leu		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q639L	ENST00000237449.6	37	c.1916	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	A	11.69	1.712719	0.30413	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	4.95	3.77	0.43336	.	0.664630	0.13032	N	0.419214	T	0.13884	0.0336	N	0.08118	0	0.23602	N	0.99731	B;B	0.14438	0.01;0.006	B;B	0.20184	0.028;0.005	T	0.29366	-1.0014	10	0.28530	T	0.3	.	10.0599	0.42268	0.8489:0.0:0.0:0.1511	.	639;218	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	L	639	ENSP00000374045:Q639L;ENSP00000381326:Q639L;ENSP00000237449:Q639L	ENSP00000237449:Q639L	Q	+	2	0	DNAH6	84654214	0.978000	0.34361	0.991000	0.47740	0.983000	0.72400	4.621000	0.61233	0.697000	0.31718	0.402000	0.26972	CAG	DNAH6	-	NULL	ENSG00000115423		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2		0	33	0	A	NM_001370		84800703	1			no_errors	ENST00000237449	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.946	T	T	84800703	A	T	84800703	3	4	88	1	0	0	0	0	1	0	0	0	4619	188	7	5	1958	5	DNAH6	2	84800703	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09		84800703	158398670	16	25165											
CNGA3	1261	genome.wustl.edu	37	chr2	99013128	99013128	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagctggtgctgaagctgCgacccactgtgttcagccct	6	10	13	12	1	1	1	1	1	0	0	1	3	1	2	2	2	5	4	2	2	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:99013128C>T	ENST00000272602.2	+	7	1534	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	CNGA3_ENST00000393504.1_Nonsense_Mutation_p.R499*|CNGA3_ENST00000436404.2_Nonsense_Mutation_p.R481*|CNGA3_ENST00000409937.1_Nonsense_Mutation_p.R503*			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	499					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTGAAGCTGCGACCCACTGT	0.567																																																	0													70	64	66					2																	99013128		2203	4300	6503	SO:0001587	stop_gained	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1495C>T	2.37:g.99013128C>T	ENSP00000272602:p.Arg499*		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Nonsense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R499*	ENST00000272602.2	37	c.1495	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.311231	0.95655	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	.	.	.	4.92	2.92	0.33932	.	0.122332	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.2148	0.54400	0.3953:0.6047:0.0:0.0	.	.	.	.	X	499;481;499;503	.	ENSP00000272602:R499X	R	+	1	2	CNGA3	98379560	0.002000	0.14202	0.998000	0.56505	0.979000	0.70002	0.468000	0.22051	1.283000	0.44513	0.558000	0.71614	CGA	CNGA3	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000144191		0.567	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	-	0	20	0	C	NM_001298		99013128	1	tier1	-	no_errors	ENST00000272602	ensembl	human	known	74_37	nonsense	15.38	22	4	SNP	0.999	T	T	99013128	C	T	99013128	4	4	88	1	0	0	0	0	0	1	0	0	3605	760	27	1	1521	1	CNGA3	2	99013128	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	14212425	99013128	144186245	17	25166											
IL1F8	27177	genome.wustl.edu	37	chr2	113785502	113785502	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccacagaatctaagtagAagttagtgttattagttatg	14	15	8	4	0	1	2	0	0	1	2	2	2	2	2	1	0	0	4	1	0	8	7			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:113785502A>G	ENST00000259213.4	-	4	369				IL36B_ENST00000327407.2_Missense_Mutation_p.F151S	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta						immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						ATCTAAGTAGAAGTTAGTGTT	0.468																																																	0													68	64	66					2																	113785502		2203	4300	6503	SO:0001627	intron_variant	0			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.261+1013T>C	2.37:g.113785502A>G			Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_alpha/beta,prints_IL-1_beta	p.F151S	ENST00000259213.4	37	c.452	CCDS2109.1	2	.	.	.	.	.	.	.	.	.	.	a	16.17	3.047079	0.55110	.	.	ENSG00000136696	ENST00000327407	T	0.37058	1.22	4.85	3.67	0.42095	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.43343	-0.9397	8	0.87932	D	0	.	7.7808	0.29064	0.8141:0.0:0.0:0.1859	.	151	Q9NZH7-2	.	S	151	ENSP00000328420:F151S	ENSP00000328420:F151S	F	-	2	0	IL36B	113501973	0.233000	0.23772	0.009000	0.14445	0.181000	0.23173	2.445000	0.44899	0.683000	0.31428	0.454000	0.30748	TTC	IL36B	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1	ENSG00000136696		0.468	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	HGNC	protein_coding	OTTHUMT00000254110.1	-	0	69	0	A	NM_014438		113785502	-1	tier1	-	no_errors	ENST00000327407	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.012	G	G	113785502	A	G	113785502	1	3	88	0	1	0	0	0	0	0	0	0	7683	246	9	4		4	IL1F8	2	113785502	Intron	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	14772374	113785502	129413871	18	25167											
LRP1B	53353	genome.wustl.edu	37	chr2	141819736	141819736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactaggtctagtgccagtgCagctggctgctctgtctttg	5	13	13	10	0	3	0	0	0	3	0	3	1	3	0	1	2	4	4	1	2	2	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:141819736C>A	ENST00000389484.3	-	8	2091	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	374					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTGCCAGTGCAGCTGGCTGC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													180	158	166					2																	141819736		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1120G>T	2.37:g.141819736C>A	ENSP00000374135:p.Ala374Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A374S	ENST00000389484.3	37	c.1120	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733264	0.89482	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90900	-2.75	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	L	0.41492	1.28	0.58432	D	0.999998	D	0.58268	0.982	P	0.48815	0.591	D	0.90078	0.4168	10	0.49607	T	0.09	.	20.0401	0.97581	0.0:1.0:0.0:0.0	.	374	Q9NZR2	LRP1B_HUMAN	S	374;312	ENSP00000374135:A374S	ENSP00000374135:A374S	A	-	1	0	LRP1B	141536206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	2.805000	0.96524	0.655000	0.94253	GCA	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	61	0	C	NM_018557		141819736	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	14.04	49	8	SNP	1.000	A	A	141819736	C	A	141819736	3	1	88	1	0	0	0	0	1	0	0	0	8990	710	25	3	13015	3	LRP1B	2	141819736	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	28034234	141819736	101379637	19	25168											
NEB	4703	genome.wustl.edu	37	chr2	152534587	152534587	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcttttttatactcccGatctgattgtatcttggcca	8	18	6	9	1	3	1	0	1	3	0	4	2	4	1	2	1	1	1	2	1	4	8			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:152534587G>T	ENST00000172853.10	-	33	3517	c.3370C>A	c.(3370-3372)Cgg>Agg	p.R1124R	NEB_ENST00000604864.1_Silent_p.R1124R|NEB_ENST00000603639.1_Silent_p.R1124R|NEB_ENST00000409198.1_Silent_p.R1124R|NEB_ENST00000397345.3_Silent_p.R1124R|NEB_ENST00000427231.2_Silent_p.R1124R			P20929	NEBU_HUMAN	nebulin	1124					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTATACTCCCGATCTGATTGT	0.423																																																	0													97	92	94					2																	152534587		1869	4104	5973	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3370C>A	2.37:g.152534587G>T			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R1124	ENST00000172853.10	37	c.3370		2																																																																																			NEB	-	pfam_Nebulin_35r-motif,superfamily_Adhesion_dom,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	40	0	G	NM_004543		152534587	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.734	T	T	152534587	G	T	152534587	2	4	88	1	0	0	0	0	0	0	0	1	10341	1057	37	2		2	NEB	2	152534587	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	10714851	152534587	90664786	20	25169											
FAP	2191	genome.wustl.edu	37	chr2	163027548	163027548	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgggtgtataagtggtTcgtggacaggccggataagc	9	10	16	6	2	0	0	0	0	0	0	1	2	0	2	1	5	1	2	1	5	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:163027548T>A	ENST00000188790.4	-	26	2431	c.2224A>T	c.(2224-2226)Aac>Tac	p.N742Y	AC007750.5_ENST00000418968.3_RNA|FAP_ENST00000443424.1_Missense_Mutation_p.N717Y|AC007750.5_ENST00000609668.1_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATAAGTGGTTCGTGGACAGG	0.428																																																	0													150	149	150					2																	163027548		2203	4300	6503	SO:0001583	missense	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"seprase"	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2224A>T	2.37:g.163027548T>A	ENSP00000188790:p.Asn742Tyr			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.N742Y	ENST00000188790.4	37	c.2224	CCDS33311.1	2	.	.	.	.	.	.	.	.	.	.	T	13.00	2.105328	0.37145	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29917	1.55;1.55	5.6	4.37	0.52481	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.511322	0.22145	N	0.063998	T	0.15219	0.0367	N	0.05199	-0.095	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.001	B;B;B	0.10450	0.0;0.005;0.005	T	0.14924	-1.0455	10	0.25106	T	0.35	-18.5458	11.5602	0.50772	0.1337:0.0:0.0:0.8663	.	717;221;742	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	Y	742;717	ENSP00000188790:N742Y;ENSP00000411391:N717Y	ENSP00000188790:N742Y	N	-	1	0	FAP	162735794	0.013000	0.17824	0.997000	0.53966	0.688000	0.40055	1.371000	0.34250	2.141000	0.66446	0.533000	0.62120	AAC	FAP	-	pfam_Peptidase_S9	ENSG00000078098		0.428	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	-	0	43	0	T			163027548	-1	tier1	-	no_errors	ENST00000188790	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.037	A	A	163027548	T	A	163027548	3	1	88	1	0	0	0	0	1	0	0	0	5695	1783	62	5	62	5	FAP	2	163027548	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	10492961	163027548	80171825	21	25170											
SCN3A	6328	genome.wustl.edu	37	chr2	165946875	165946875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcctccctttaattgcctCtttgttatagttacttgata	9	19	4	9	0	1	1	0	1	1	0	3	1	3	1	3	0	2	2	3	0	6	9			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:165946875C>G	ENST00000360093.3	-	28	6279	c.5788G>C	c.(5788-5790)Gag>Cag	p.E1930Q	SCN3A_ENST00000540861.1_Missense_Mutation_p.E413Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1930Q|SCN3A_ENST00000465043.1_5'Flank|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1881Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1930					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTAATTGCCTCTTTGTTATAG	0.353																																																	0													79	79	79					2																	165946875		2203	4300	6503	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5788G>C	2.37:g.165946875C>G	ENSP00000353206:p.Glu1930Gln		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E1930Q	ENST00000360093.3	37	c.5788		2	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.756003	0.00663	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.96774	-3.87;-3.87;-3.82;-4.12	6.03	6.03	0.97812	.	0.220503	0.31542	N	0.007462	D	0.89315	0.6680	N	0.04090	-0.28	0.34546	D	0.710808	B;B;B	0.15930	0.001;0.001;0.015	B;B;B	0.13407	0.002;0.002;0.009	D	0.86902	0.2055	10	0.16896	T	0.51	.	14.129	0.65240	0.0:0.9235:0.0:0.0765	.	1881;1881;1930	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	Q	1930;1930;1881;413	ENSP00000353206:E1930Q;ENSP00000283254:E1930Q;ENSP00000386726:E1881Q;ENSP00000439920:E413Q	ENSP00000283254:E1930Q	E	-	1	0	SCN3A	165655121	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	1.579000	0.36536	2.861000	0.98227	0.655000	0.94253	GAG	SCN3A	-	NULL	ENSG00000153253		0.353	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding			0	30	0	C	NM_006922		165946875	-1			no_errors	ENST00000283254	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.801	G	G	165946875	C	G	165946875	3	3	88	1	0	0	0	0	1	0	0	0	13963	922	32	5	218	5	SCN3A	2	165946875	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	2919327	165946875	77252498	22	25171											
SCN9A	6335	genome.wustl.edu	37	chr2	167142872	167142872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggggtagacaacctcttttCatgtgctcgcctatgccctt	6	13	10	12	1	2	1	1	0	1	1	3	1	2	1	3	2	3	2	3	2	3	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:167142872C>T	ENST00000409435.1	-	10	1575	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	SCN9A_ENST00000375387.4_Missense_Mutation_p.E527K|SCN9A_ENST00000303354.6_Missense_Mutation_p.E527K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E526K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	526					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACCTCTTTTCATGTGCTCGC	0.438																																																	0													256	239	245					2																	167142872		1917	4138	6055	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1576G>A	2.37:g.167142872C>T	ENSP00000386330:p.Glu526Lys		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E527K	ENST00000409435.1	37	c.1579	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	12.11	1.838415	0.32513	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	5.76	4.87	0.63330	Domain of unknown function DUF3451 (1);	1.144910	0.06508	N	0.737478	D	0.92208	0.7529	M	0.78223	2.4	0.38110	D	0.937523	B;B;B	0.28783	0.011;0.003;0.222	B;B;B	0.38327	0.034;0.072;0.271	D	0.84901	0.0842	10	0.42905	T	0.14	.	10.0093	0.41977	0.1351:0.7947:0.0:0.0701	.	526;526;527	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	K	526;527;527;526;391;391	ENSP00000386306:E526K;ENSP00000364536:E527K;ENSP00000304748:E527K;ENSP00000386330:E526K;ENSP00000413212:E391K;ENSP00000393141:E391K	ENSP00000304748:E527K	E	-	1	0	SCN9A	166851118	0.998000	0.40836	0.410000	0.26471	0.035000	0.12851	5.555000	0.67301	2.725000	0.93324	0.585000	0.79938	GAA	SCN9A	-	pfam_DUF3451	ENSG00000169432		0.438	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	69	0	C	NM_002977		167142872	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	13.16	66	10	SNP	0.589	T	T	167142872	C	T	167142872	3	4	88	1	0	0	0	0	1	0	0	0	13970	835	29	3	4425	3	SCN9A	2	167142872	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1195997	167142872	76056501	23	25172											
XIRP2	129446	genome.wustl.edu	37	chr2	168099625	168099625	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattctgaagggagaggtgCagtccattagatggatcttt	12	12	12	5	0	2	3	0	1	2	2	3	5	3	4	1	3	1	1	1	3	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:168099625C>T	ENST00000409195.1	+	9	1812	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.Q575*|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.Q353*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	400					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q575K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGGAGAGGTGCAGTCCATTAG	0.403																																																	1	Substitution - Missense(1)	lung(1)											65	64	64					2																	168099625		1902	4106	6008	SO:0001587	stop_gained	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1723C>T	2.37:g.168099625C>T	ENSP00000386840:p.Gln575*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.Q575*	ENST00000409195.1	37	c.1723	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.133161	0.98670	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.54	5.54	0.83059	.	0.128586	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.729	19.0979	0.93260	0.0:1.0:0.0:0.0	.	.	.	.	X	575;575;353	.	ENSP00000295237:Q575X	Q	+	1	0	XIRP2	167807871	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	7.818000	0.86416	2.615000	0.88500	0.655000	0.94253	CAG	XIRP2	-	pfam_Actin-binding_Xin_repeat	ENSG00000163092		0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0	23	0	C	NM_152381		168099625	1			no_errors	ENST00000295237	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	T	T	168099625	C	T	168099625	4	4	88	1	0	0	0	0	0	1	0	0	17479	711	25	3	1753	3	XIRP2	2	168099625	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	956753	168099625	75099748	24	25173											
TTN	7273	genome.wustl.edu	37	chr2	179665314	179665314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacttcaccacaggtgtagGgattccagtcactctcactt	10	11	8	12	0	3	0	3	0	1	0	5	2	4	1	2	2	1	1	2	2	2	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:179665314G>C	ENST00000591111.1	-	4	615	c.391C>G	c.(391-393)Cct>Gct	p.P131A	TTN_ENST00000460472.2_Missense_Mutation_p.P131A|TTN_ENST00000589042.1_Missense_Mutation_p.P131A|TTN_ENST00000360870.5_Missense_Mutation_p.P131A|TTN_ENST00000342992.6_Missense_Mutation_p.P131A|TTN_ENST00000359218.5_Missense_Mutation_p.P131A|TTN_ENST00000342175.6_Missense_Mutation_p.P131A			Q8WZ42	TITIN_HUMAN	titin	32749	Ig-like 2.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGGTGTAGGGATTCCAGTC	0.517																																																	0													155	129	138					2																	179665314		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.391C>G	2.37:g.179665314G>C	ENSP00000465570:p.Pro131Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P131A	ENST00000591111.1	37	c.391		2	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212317	0.58452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.95	5.95	0.96441	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91981	0.7460	H	0.97707	4.06	0.49483	D	0.999797	D;D;D;D;D	0.89917	0.999;0.997;0.997;0.997;1.0	D;D;D;D;D	0.83275	0.992;0.992;0.992;0.992;0.996	D	0.93908	0.7194	9	0.87932	D	0	.	20.3789	0.98926	0.0:0.0:1.0:0.0	.	131;131;131;131;131	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	A	131	ENSP00000343764:P131A;ENSP00000434586:P131A;ENSP00000340554:P131A;ENSP00000352154:P131A;ENSP00000354117:P131A	ENSP00000340554:P131A	P	-	1	0	TTN	179373559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.826000	0.97356	0.563000	0.77884	CCT	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.517	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	23	0	G	NM_133378		179665314	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	C	C	179665314	G	C	179665314	3	2	88	1	0	0	0	0	1	0	0	0	16784	1232	43	5	111033	5	TTN	2	179665314	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	11565689	179665314	63534059	25	25174											
MARCH4	57574	genome.wustl.edu	37	chr2	217124265	217124265	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggatgaggaggtccGggggttggtcctgcctcctg	3	10	19	9	1	0	1	0	1	0	0	3	3	3	3	4	7	1	1	4	7	0	1	rs530847926	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:217124265G>T	ENST00000273067.4	-	4	2769	c.1003C>A	c.(1003-1005)Cgg>Agg	p.R335R	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	335						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAGGAGGTCCGGGGGTTGGTC	0.617																																																	0													80	72	75					2																	217124265		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	29269	protein-coding gene	gene with protein product		608208	"membrane-associated ring finger (C3HC4) 4"			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1003C>A	2.37:g.217124265G>T			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R335	ENST00000273067.4	37	c.1003	CCDS33376.1	2																																																																																			MARCH4	-	NULL	ENSG00000144583		0.617	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0	65	0	G	NM_020814		217124265	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	40.85	42	29	SNP	1.000	T	T	217124265	G	T	217124265	2	4	88	1	0	0	0	0	0	0	0	1	9341	1115	39	2		2	MARCH4	2	217124265	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	37458951	217124265	26075108	26	25175											
PID1	55022	genome.wustl.edu	37	chr2	229890700	229890700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggccggatttccaggaggGcattggccggaaagacatcc	10	7	14	10	2	0	1	0	0	0	1	2	4	2	4	4	6	0	1	4	6	1	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr2:229890700G>A	ENST00000354069.6	-	3	431	c.401C>T	c.(400-402)gCc>gTc	p.A134V	PID1_ENST00000392054.3_Missense_Mutation_p.A132V|PID1_ENST00000409462.1_Missense_Mutation_p.A52V|PID1_ENST00000392055.3_Missense_Mutation_p.A101V|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	134	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TTCCAGGAGGGCATTGGCCGG	0.562																																																	0													95	91	93					2																	229890700		2203	4300	6503	SO:0001583	missense	0			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.401C>T	2.37:g.229890700G>A	ENSP00000283937:p.Ala134Val		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.A134V	ENST00000354069.6	37	c.401		2	.	.	.	.	.	.	.	.	.	.	G	8.159	0.789060	0.16258	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.3	4.43	0.53597	Pleckstrin homology-type (1);	0.157221	0.56097	N	0.000028	T	0.34861	0.0912	N	0.25647	0.755	0.54753	D	0.999983	P;P;B;B	0.40578	0.722;0.476;0.006;0.026	B;B;B;B	0.32211	0.142;0.086;0.009;0.025	T	0.12785	-1.0534	8	.	.	.	-19.0792	13.3491	0.60591	0.0766:0.0:0.9234:0.0	.	52;101;132;134	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	V	132;52;101;134;134	.	.	A	-	2	0	PID1	229598944	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.375000	0.79646	1.373000	0.46208	0.655000	0.94253	GCC	PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.562	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0	63	0	G	NM_017933		229890700	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	229890700	G	A	229890700	3	1	88	1	0	0	0	0	1	0	0	0	11921	1203	42	3	355	3	PID1	2	229890700	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	12766435	229890700	13308673	27	25176											
PLXNA1	5361	genome.wustl.edu	37	chr3	126749110	126749110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgcagaagtttgtggacGacctgtttgagaccatcttc	9	12	10	10	1	1	2	0	1	1	2	2	5	1	3	2	1	1	3	2	1	1	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:126749110G>A	ENST00000393409.2	+	28	5086	c.5086G>A	c.(5086-5088)Gac>Aac	p.D1696N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D1673N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1696					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTTTGTGGACGACCTGTTTGA	0.627																																																	0													106	99	102					3																	126749110		2203	4300	6503	SO:0001583	missense	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"Plexins"	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.5086G>A	3.37:g.126749110G>A	ENSP00000377061:p.Asp1696Asn			Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D1696N	ENST00000393409.2	37	c.5086	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219630	0.79464	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.15834	2.39;2.39	3.39	3.39	0.38822	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.071405	0.52532	D	0.000063	T	0.34106	0.0886	L	0.54908	1.71	0.80722	D	1	P;D	0.76494	0.57;0.999	B;D	0.64776	0.258;0.929	T	0.16837	-1.0389	10	0.54805	T	0.06	.	15.2982	0.73925	0.0:0.0:1.0:0.0	.	310;1696	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	N	1696;1673	ENSP00000377061:D1696N;ENSP00000251772:D1673N	ENSP00000251772:D1673N	D	+	1	0	PLXNA1	128231800	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	9.411000	0.97342	1.885000	0.54596	0.313000	0.20887	GAC	PLXNA1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000114554		0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	-	0	40	0	G	NM_032242		126749110	1	tier1	-	no_errors	ENST00000393409	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A	A	126749110	G	A	126749110	3	1	88	1	0	0	0	0	1	0	0	0	12158	1058	37	1	5196	1	PLXNA1	3	126749110	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		126749110	71273320	28	25177											
KBTBD12	166348	genome.wustl.edu	37	chr3	127642564	127642564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgagcttttgaagcaagtCagattggaacttgtaaatcc	12	13	10	6	0	1	3	1	2	0	1	2	4	2	4	1	1	3	4	1	1	5	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:127642564C>T	ENST00000405109.1	+	2	1127	c.660C>T	c.(658-660)gtC>gtT	p.V220V	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Silent_p.V220V|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	220	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TGAAGCAAGTCAGATTGGAAC	0.373																																																	0													81	74	76					3																	127642564		1898	4109	6007	SO:0001819	synonymous_variant	0				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"BTB/POZ domain containing"	25731	protein-coding gene	gene with protein product			"kelch domain containing 6"	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.660C>T	3.37:g.127642564C>T			B5MCC6|Q6ZRK1	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V220	ENST00000405109.1	37	c.660	CCDS33848.2	3																																																																																			KBTBD12	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000187715		0.373	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	-	0	39	0	C	NM_207335		127642564	1	tier1	-	no_errors	ENST00000405109	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.915	T	T	127642564	C	T	127642564	2	4	88	1	0	0	0	0	0	0	0	1	8018	813	29	3		3	KBTBD12	3	127642564	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	893454	127642564	70379866	29	25178											
NEK11	79858	genome.wustl.edu	37	chr3	130992369	130992369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagacatgtccccaggaccaCcaattttcaacagtgtgatg	13	9	8	11	0	1	2	1	1	0	1	2	3	2	3	4	1	1	0	4	1	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:130992369C>G	ENST00000510769.1	+	13	1607	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A	NEK11_ENST00000429253.2_Missense_Mutation_p.P557A|NEK11_ENST00000508196.1_Missense_Mutation_p.P557A|NEK11_ENST00000412440.2_Missense_Mutation_p.P373A|NEK11_ENST00000383366.4_Missense_Mutation_p.P557A|NEK11_ENST00000510688.1_Intron					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CCCAGGACCACCAATTTTCAA	0.473																																																	0													160	120	134					3																	130992369		2203	4300	6503	SO:0001583	missense	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1354C>G	3.37:g.130992369C>G	ENSP00000421549:p.Pro452Ala			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P557A	ENST00000510769.1	37	c.1669		3	.	.	.	.	.	.	.	.	.	.	C	0	-2.628812	0.00115	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T	0.70164	-0.41;-0.2;-0.2;-0.46;-0.2	5.73	-2.88	0.05682	.	1.220510	0.06173	N	0.678139	T	0.38295	0.1035	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21143	-1.0254	10	0.08837	T	0.75	.	5.7662	0.18227	0.5133:0.2335:0.2532:0.0	.	452;373;557	E9PHI8;B4DDN2;Q8NG66	.;.;NEK11_HUMAN	A	452;557;557;373;557	ENSP00000421549:P452A;ENSP00000397180:P557A;ENSP00000372857:P557A;ENSP00000411888:P373A;ENSP00000421851:P557A	ENSP00000372857:P557A	P	+	1	0	NEK11	132475059	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.748000	0.26305	-0.756000	0.04703	-1.267000	0.01435	CCA	NEK11	-	NULL	ENSG00000114670		0.473	NEK11-005	NOVEL	basic|exp_conf	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356757.1	-	0	89	0	C	NM_024800		130992369	1	tier1	-	no_errors	ENST00000383366	ensembl	human	known	74_37	missense	30.65	43	19	SNP	0.001	G	G	130992369	C	G	130992369	3	3	88	1	0	0	0	0	1	0	0	0	10362	507	18	5	1745	5	NEK11	3	130992369	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	3349805	130992369	67030061	30	25179											
TFDP2	7029	genome.wustl.edu	37	chr3	141678557	141678557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttggcaccagggatttcGcaagtttcagatcctccaga	9	11	9	12	1	1	2	1	0	0	2	4	3	3	3	4	2	0	3	4	2	1	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:141678557G>A	ENST00000489671.1	-	11	1440	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TFDP2_ENST00000467072.1_Missense_Mutation_p.A277V|TFDP2_ENST00000310282.6_Missense_Mutation_p.A277V|TFDP2_ENST00000317104.7_Missense_Mutation_p.A261V|TFDP2_ENST00000486111.1_Missense_Mutation_p.A277V|TFDP2_ENST00000499676.2_Missense_Mutation_p.A277V|TFDP2_ENST00000397991.4_Missense_Mutation_p.A309V|TFDP2_ENST00000479040.1_Missense_Mutation_p.A276V|TFDP2_ENST00000495310.1_Missense_Mutation_p.A240V|TFDP2_ENST00000477292.1_Missense_Mutation_p.A201V			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	337					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.A337V(1)		kidney(1)|upper_aerodigestive_tract(2)	3						CAGGGATTTCGCAAGTTTCAG	0.423																																																	1	Substitution - Missense(1)	lung(1)											149	156	153					3																	141678557		2002	4176	6178	SO:0001583	missense	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.1010C>T	3.37:g.141678557G>A	ENSP00000420616:p.Ala337Val		B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP	p.A337V	ENST00000489671.1	37	c.1010	CCDS54650.1	3	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989771	0.93106	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991	T;T;T;T;T;T;T;T;T;T	0.52526	1.64;1.56;1.64;0.7;0.66;1.64;1.67;1.64;1.64;1.6	5.16	5.16	0.70880	Transcription factor DP, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.67692	0.2920	M	0.68728	2.09	0.80722	D	1	D;D;D	0.89917	0.991;1.0;1.0	B;D;D	0.87578	0.44;0.998;0.991	T	0.64364	-0.6425	10	0.35671	T	0.21	-5.5606	18.8432	0.92192	0.0:0.0:1.0:0.0	.	240;337;277	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	V	277;337;277;201;240;277;261;277;276;309	ENSP00000439782:A277V;ENSP00000420616:A337V;ENSP00000420599:A277V;ENSP00000418971:A201V;ENSP00000419036:A240V;ENSP00000418590:A277V;ENSP00000315668:A261V;ENSP00000309622:A277V;ENSP00000417585:A276V;ENSP00000381078:A309V	ENSP00000309622:A277V	A	-	2	0	TFDP2	143161247	1.000000	0.71417	0.139000	0.22197	0.952000	0.60782	9.062000	0.93920	2.687000	0.91594	0.462000	0.41574	GCG	TFDP2	-	pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP	ENSG00000114126		0.423	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4		0	60	0	G	NM_006286		141678557	-1			no_errors	ENST00000489671	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	141678557	G	A	141678557	3	1	88	1	0	0	0	0	1	0	0	0	15845	1087	38	1	342	1	TFDP2	3	141678557	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	10686188	141678557	56343873	31	25180											
CPA3	1359	genome.wustl.edu	37	chr3	148583320	148583320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagacatcataaaggacttGgccaaaaccaatgaggtaag	17	6	10	8	0	1	2	1	1	0	1	1	3	1	3	2	3	1	2	2	3	6	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:148583320G>T	ENST00000296046.3	+	2	181	c.129G>T	c.(127-129)ttG>ttT	p.L43F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	43					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L43F(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAAAGGACTTGGCCAAAACCA	0.393																																																	1	Substitution - Missense(1)	lung(1)											120	129	126					3																	148583320		2203	4300	6503	SO:0001583	missense	0				CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"mast cell carboxypeptidase A", "tissue carboxypeptidase A"	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.129G>T	3.37:g.148583320G>T	ENSP00000296046:p.Leu43Phe		Q96E94	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.L43F	ENST00000296046.3	37	c.129	CCDS3138.1	3	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868162	0.51588	.	.	ENSG00000163751	ENST00000296046	T	0.27256	1.68	6.17	2.31	0.28768	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.078660	0.52532	N	0.000064	T	0.46288	0.1385	M	0.76328	2.33	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.38542	-0.9656	10	0.87932	D	0	.	8.5178	0.33257	0.3874:0.0:0.6126:0.0	.	43	P15088	CBPA3_HUMAN	F	43	ENSP00000296046:L43F	ENSP00000296046:L43F	L	+	3	2	CPA3	150066010	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	0.660000	0.25009	0.436000	0.26393	-0.345000	0.07892	TTG	CPA3	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000163751		0.393	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA3	HGNC	protein_coding	OTTHUMT00000355974.1		0	34	0	G	NM_001870		148583320	1			no_errors	ENST00000296046	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.983	T	T	148583320	G	T	148583320	3	4	88	1	0	0	0	0	1	0	0	0	3798	1339	47	3	135	3	CPA3	3	148583320	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	6904763	148583320	49439110	32	25181											
SI	6476	genome.wustl.edu	37	chr3	164764732	164764732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accaatgcgcagcatgtcttCcagatccagcaaatgttgag	12	9	9	11	1	1	2	0	1	1	1	3	2	3	2	3	0	3	4	3	0	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:164764732C>A	ENST00000264382.3	-	16	1846	c.1784G>T	c.(1783-1785)gGa>gTa	p.G595V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	595	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGCATGTCTTCCAGATCCAGC	0.368										HNSCC(35;0.089)																																							0													87	83	84					3																	164764732		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1784G>T	3.37:g.164764732C>A	ENSP00000264382:p.Gly595Val		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.G595V	ENST00000264382.3	37	c.1784	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412322	0.83340	.	.	ENSG00000090402	ENST00000264382	D	0.92099	-2.97	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99667	1.0995	10	0.87932	D	0	.	18.0712	0.89407	0.0:1.0:0.0:0.0	.	595	P14410	SUIS_HUMAN	V	595	ENSP00000264382:G595V	ENSP00000264382:G595V	G	-	2	0	SI	166247426	1.000000	0.71417	0.142000	0.22268	0.983000	0.72400	7.356000	0.79445	2.519000	0.84933	0.467000	0.42956	GGA	SI	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000090402		0.368	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1		0	39	0	C	NM_001041		164764732	-1			no_errors	ENST00000264382	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.998	A	A	164764732	C	A	164764732	3	1	88	1	0	0	0	0	1	0	0	0	14342	855	30	3	3831	3	SI	3	164764732	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	16181412	164764732	33257698	33	25182											
EPHB3	2049	genome.wustl.edu	37	chr3	184299079	184299079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaccgcacggtcccagattAcacaaccttcacgacagttg	11	7	9	14	3	1	1	1	0	0	1	2	3	2	2	3	2	2	2	3	2	2	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:184299079A>G	ENST00000330394.2	+	15	3223	c.2771A>G	c.(2770-2772)tAc>tGc	p.Y924C	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	924					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GTCCCAGATTACACAACCTTC	0.557																																																	0													121	110	114					3																	184299079		2203	4300	6503	SO:0001583	missense	0			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3394	protein-coding gene	gene with protein product		601839	"EphB3"	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.2771A>G	3.37:g.184299079A>G	ENSP00000332118:p.Tyr924Cys		Q7Z740	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.Y924C	ENST00000330394.2	37	c.2771	CCDS3268.1	3	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614258	0.46631	.	.	ENSG00000182580	ENST00000330394	T	0.50548	0.74	4.23	4.23	0.50019	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.61949	0.2388	M	0.64567	1.98	0.80722	D	1	D	0.69078	0.997	D	0.63113	0.911	T	0.66208	-0.5981	10	0.66056	D	0.02	.	13.218	0.59871	1.0:0.0:0.0:0.0	.	924	P54753	EPHB3_HUMAN	C	924	ENSP00000332118:Y924C	ENSP00000332118:Y924C	Y	+	2	0	EPHB3	185781773	1.000000	0.71417	0.895000	0.35142	0.924000	0.55760	3.476000	0.53143	1.872000	0.54250	0.448000	0.29417	TAC	EPHB3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	ENSG00000182580		0.557	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1		0	31	0	A	NM_004443		184299079	1			no_errors	ENST00000330394	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	G	G	184299079	A	G	184299079	3	3	88	1	0	0	0	0	1	0	0	0	5192	391	14	4	2829	4	EPHB3	3	184299079	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	19534347	184299079	13723351	34	25183											
ACAP2	23527	genome.wustl.edu	37	chr3	195022818	195022818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacactggacccgctgaagcGcactttctcctttcaataat	10	12	6	13	2	2	1	1	1	1	0	3	2	2	2	2	1	2	2	2	1	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:195022818G>T	ENST00000326793.6	-	14	1432	c.1202C>A	c.(1201-1203)gCg>gAg	p.A401E		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	401	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCGCTGAAGCGCACTTTCTCC	0.483																																																	0													167	180	176					3																	195022818		2203	4300	6503	SO:0001583	missense	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1202C>A	3.37:g.195022818G>T	ENSP00000324287:p.Ala401Glu		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.A401E	ENST00000326793.6	37	c.1202	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.279204	0.95489	.	.	ENSG00000114331	ENST00000326793	T	0.42131	0.98	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	M	0.69248	2.105	0.80722	D	1	D	0.56746	0.977	P	0.58331	0.837	T	0.59979	-0.7352	10	0.54805	T	0.06	.	19.174	0.93594	0.0:0.0:1.0:0.0	.	401	Q15057	ACAP2_HUMAN	E	401	ENSP00000324287:A401E	ENSP00000324287:A401E	A	-	2	0	ACAP2	196504107	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	5.825000	0.69286	2.777000	0.95525	0.591000	0.81541	GCG	ACAP2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000114331		0.483	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2		0	37	0	G	NM_012287		195022818	-1			no_errors	ENST00000326793	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	195022818	G	T	195022818	3	4	88	1	0	0	0	0	1	0	0	0	119	1087	38	2	1174	2	ACAP2	3	195022818	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	10723739	195022818	2999612	35	25184											
DLG1	1739	genome.wustl.edu	37	chr3	196863547	196863547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaatgctaaacccaaGacctgtttggaaaacagttc	14	9	7	11	0	0	1	0	0	0	1	2	2	1	2	3	1	4	4	3	1	6	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr3:196863547G>T	ENST00000419354.1	-	11	1271	c.985C>A	c.(985-987)Ctt>Att	p.L329I	DLG1_ENST00000422288.1_Missense_Mutation_p.L278I|DLG1_ENST00000448528.2_Missense_Mutation_p.L329I|DLG1_ENST00000357674.4_Missense_Mutation_p.L296I|DLG1_ENST00000346964.2_Missense_Mutation_p.L329I|DLG1_ENST00000452595.1_Missense_Mutation_p.L213I|DLG1_ENST00000314062.3_Missense_Mutation_p.L278I|DLG1_ENST00000450955.1_Missense_Mutation_p.L296I|DLG1_ENST00000443183.1_Missense_Mutation_p.L213I|DLG1_ENST00000392382.2_Missense_Mutation_p.L296I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	329	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTAAACCCAAGACCTGTTTGG	0.378																																																	0													115	106	109					3																	196863547		2203	4300	6503	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"discs large homolog 1", "presynaptic protein SAP97", "synapse-associated protein 97"	601014	"discs, large (Drosophila) homolog 1"			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.985C>A	3.37:g.196863547G>T	ENSP00000407531:p.Leu329Ile		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.L329I	ENST00000419354.1	37	c.985	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430756	0.83776	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955;ENST00000447466	T;T;T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.41	5.41	0.78517	PDZ/DHR/GLGF (4);	0.074293	0.56097	D	0.000028	T	0.59595	0.2205	M	0.88105	2.93	0.80722	D	1	P;D;P;P;B;D;B	0.71674	0.848;0.997;0.728;0.728;0.321;0.998;0.321	P;D;P;P;P;D;P	0.83275	0.88;0.994;0.849;0.849;0.663;0.996;0.663	T	0.64993	-0.6276	10	0.54805	T	0.06	.	18.5365	0.91013	0.0:0.0:1.0:0.0	.	296;213;213;213;296;329;329	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	I	329;329;296;329;278;329;213;278;329;213;296;296;138	ENSP00000345731:L329I;ENSP00000350303:L296I;ENSP00000321087:L278I;ENSP00000407531:L329I;ENSP00000398939:L213I;ENSP00000413238:L278I;ENSP00000391732:L329I;ENSP00000396658:L213I;ENSP00000376187:L296I;ENSP00000411278:L296I;ENSP00000398702:L138I	ENSP00000321087:L278I	L	-	1	0	DLG1	198347944	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.299000	0.78831	2.695000	0.91970	0.655000	0.94253	CTT	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.378	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	-	0	39	0	G	NM_004087		196863547	-1	tier1	-	no_errors	ENST00000346964	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	196863547	G	T	196863547	3	4	88	1	0	0	0	0	1	0	0	0	4568	942	33	3	1897	3	DLG1	3	196863547	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	1840729	196863547	1158883	36	25185											
CC2D2A	57545	genome.wustl.edu	37	chr4	15565108	15565108	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctggtgaacattgtgCgagcttacgacattccagtg	9	11	12	9	2	0	1	0	1	0	0	1	3	1	1	1	1	6	3	1	1	2	3	rs386833750		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:15565108C>T	ENST00000503292.1	+	25	3325	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*	RP11-799M12.2_ENST00000609724.1_RNA|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R1000*|CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.R1049*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R1049*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1049					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GAACATTGTGCGAGCTTACGA	0.547																																																	0													71	77	75					4																	15565108		2065	4202	6267	SO:0001587	stop_gained	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3145C>T	4.37:g.15565108C>T	ENSP00000421809:p.Arg1049*		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	superfamily_C2_dom,smart_C2_dom	p.R1049*	ENST00000503292.1	37	c.3145	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841960	0.71488	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.41	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0664	0.59036	0.4022:0.5978:0.0:0.0	.	.	.	.	X	1049;1049;1000;1000;1049;1000	.	ENSP00000374303:R1000X	R	+	1	2	CC2D2A	15174206	0.997000	0.39634	0.997000	0.53966	0.046000	0.14306	2.490000	0.45294	1.376000	0.46267	0.561000	0.74099	CGA	CC2D2A	-	superfamily_C2_dom,smart_C2_dom	ENSG00000048342		0.547	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2		0	37	0	C	NM_001080522		15565108	1			no_errors	ENST00000413206	ensembl	human	known	74_37	nonsense	5.56	34	2	SNP	0.994	T	T	15565108	C	T	15565108	4	4	88	1	0	0	0	0	0	1	0	0	2735	760	27	1	3438	1	CC2D2A	4	15565108	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		15565108	175589168	37	25186											
ARAP2	116984	genome.wustl.edu	37	chr4	36212335	36212335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatcttccaccttgtcctcGcttattttctcctttctgtt	4	21	3	13	1	3	0	0	0	3	0	7	0	5	0	4	0	0	2	4	0	2	8	rs538850005		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:36212335G>A	ENST00000303965.4	-	6	1653	c.1164C>T	c.(1162-1164)agC>agT	p.S388S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	388					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCTTGTCCTCGCTTATTTTCT	0.338													G|||	1	0.000199681	0	0	5008	,	,		18462	0.001		0	False		,,,				2504	0																0													118	125	123					4																	36212335		2202	4300	6502	SO:0001819	synonymous_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1164C>T	4.37:g.36212335G>A			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S388	ENST00000303965.4	37	c.1164	CCDS3441.1	4																																																																																			ARAP2	-	NULL	ENSG00000047365		0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0	23	0	G	NM_015230		36212335	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.810	A	A	36212335	G	A	36212335	2	1	88	1	0	0	0	0	0	0	0	1	839	1078	38	1		1	ARAP2	4	36212335	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	20647227	36212335	154941941	38	25187											
FRYL	285527	genome.wustl.edu	37	chr4	48567600	48567600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatatttctatcactgtatCtgtccaagggcgtaaacatg	11	13	8	9	1	3	0	1	0	2	0	4	0	4	0	1	1	1	3	1	1	6	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:48567600C>T	ENST00000503238.1	-	26	3277	c.3278G>A	c.(3277-3279)aGa>aAa	p.R1093K	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.R1093K|FRYL_ENST00000507711.1_Missense_Mutation_p.R1093K|FRYL_ENST00000537810.1_Missense_Mutation_p.R1093K			O94915	FRYL_HUMAN	FRY-like	1093					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATCACTGTATCTGTCCAAGGG	0.368																																																	0													101	93	96					4																	48567600		1865	4104	5969	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3278G>A	4.37:g.48567600C>T	ENSP00000426064:p.Arg1093Lys		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1093K	ENST00000503238.1	37	c.3278	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.379259	0.95945	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.49432	1.78;1.78;1.78;0.78	5.9	5.9	0.94986	Armadillo-type fold (1);	0.000000	0.64402	U	0.000001	T	0.52075	0.1712	N	0.12569	0.235	0.80722	D	1	D;D	0.69078	0.959;0.997	P;D	0.65684	0.579;0.937	T	0.53215	-0.8470	10	0.35671	T	0.21	.	20.2704	0.98474	0.0:1.0:0.0:0.0	.	1093;1093	F2Z2S2;O94915	.;FRYL_HUMAN	K	1093	ENSP00000426064:R1093K;ENSP00000351113:R1093K;ENSP00000441114:R1093K;ENSP00000421584:R1093K	ENSP00000351113:R1093K	R	-	2	0	FRYL	48262357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.793000	0.96121	0.591000	0.81541	AGA	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	34	0	C			48567600	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	48567600	C	T	48567600	3	4	88	1	0	0	0	0	1	0	0	0	6088	913	32	3	5907	3	FRYL	4	48567600	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	12355265	48567600	142586676	39	25188											
CWH43	80157	genome.wustl.edu	37	chr4	48996764	48996764	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacccactgggtttttGgagaagtctctcttgtttcc	5	16	8	12	0	3	1	1	0	2	1	6	2	5	1	3	2	0	2	3	2	1	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:48996764G>T	ENST00000226432.4	+	5	823	c.640G>T	c.(640-642)Gga>Tga	p.G214*	CWH43_ENST00000513409.1_Nonsense_Mutation_p.G187*	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	214					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGGGTTTTTGGAGAAGTCTC	0.547																																																	0													115	109	111					4																	48996764		2203	4300	6503	SO:0001587	stop_gained	0				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.640G>T	4.37:g.48996764G>T	ENSP00000226432:p.Gly214*		B2RPD7	Nonsense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.G214*	ENST00000226432.4	37	c.640	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	G	38	6.873127	0.97901	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	.	.	.	4.8	4.8	0.61643	.	0.261790	0.26553	N	0.023736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5787	0.84708	0.0:0.0:1.0:0.0	.	.	.	.	X	214;187	.	.	G	+	1	0	CWH43	48691521	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.776000	0.68924	2.634000	0.89283	0.655000	0.94253	GGA	CWH43	-	NULL	ENSG00000109182		0.547	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	-	0	79	0	G	NM_025087		48996764	1	tier1	-	no_errors	ENST00000226432	ensembl	human	known	74_37	nonsense	5.43	87	5	SNP	1.000	T	T	48996764	G	T	48996764	4	4	88	1	0	0	0	0	0	1	0	0	4082	1349	47	3	658	3	CWH43	4	48996764	Nonsense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	429164	48996764	142157512	40	25189											
RASSF6	166824	genome.wustl.edu	37	chr4	74459299	74459299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccttcaacaattagtttGccatcttcagtctaaggaag	12	14	6	9	0	4	0	2	0	2	0	5	1	5	1	2	1	2	1	2	1	5	6	rs141793183		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:74459299G>A	ENST00000342081.3	-	4	382	c.252C>T	c.(250-252)ggC>ggT	p.G84G	RASSF6_ENST00000307439.5_Silent_p.G52G|RASSF6_ENST00000335049.5_Silent_p.G40G|RASSF6_ENST00000395777.2_Silent_p.G52G	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	84					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CAATTAGTTTGCCATCTTCAG	0.333																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	100	101	101		156,252	-2.1	0	4	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RASSF6	NM_177532.3,NM_201431.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	52/338,84/370	74459299	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.252C>T	4.37:g.74459299G>A			Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom	p.G84	ENST00000342081.3	37	c.252	CCDS3558.1	4																																																																																			RASSF6	-	NULL	ENSG00000169435		0.333	RASSF6-002	KNOWN	basic|CCDS	protein_coding	RASSF6	HGNC	protein_coding	OTTHUMT00000252279.1	-	0	81	0	G	NM_177532		74459299	-1	tier1	rs141793183	no_errors	ENST00000342081	ensembl	human	known	74_37	silent	10.13	71	8	SNP	0.013	A	A	74459299	G	A	74459299	2	1	88	1	0	0	0	0	0	0	0	1	13135	1306	46	3		3	RASSF6	4	74459299	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	25462535	74459299	116694977	41	25190											
PLAC8	51316	genome.wustl.edu	37	chr4	84026109	84026109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcttgttccacacagacaGcattcattcatatcagctgc	11	11	6	13	1	3	1	3	0	0	1	4	1	4	1	1	0	3	4	1	0	1	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:84026109G>C	ENST00000509973.1	-	2	135	c.12C>G	c.(10-12)tgC>tgG	p.C4W	PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000311507.4_Missense_Mutation_p.C61W|PLAC8_ENST00000505406.1_Missense_Mutation_p.C61W|PLAC8_ENST00000411416.2_Missense_Mutation_p.C61W|PLAC8_ENST00000426923.2_Missense_Mutation_p.C61W			Q9UHV8	PP13_HUMAN	placenta-specific 8	0					apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)			large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				CACACAGACAGCATTCATTCA	0.483																																																	0													114	100	105					4																	84026109		2203	4300	6503	SO:0001583	missense	0			AF208846	CCDS3601.1	4q21.22	2006-05-20			ENSG00000145287	ENSG00000145287			19254	protein-coding gene	gene with protein product		607515				12758124, 12384430	Standard	NM_016619		Approved	onzin, C15	uc003hoe.3	Q9NZF1	OTTHUMG00000130294	ENST00000509973.1:c.12C>G	4.37:g.84026109G>C	ENSP00000423459:p.Cys4Trp		C5HZ15	Missense_Mutation	SNP	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	p.C61W	ENST00000509973.1	37	c.183		4	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192227	0.38707	.	.	ENSG00000145287	ENST00000311507;ENST00000411416;ENST00000509973;ENST00000505406;ENST00000426923	.	.	.	5.59	3.85	0.44370	.	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87086	0.2169	9	0.62326	D	0.03	-27.9189	9.2581	0.37595	0.1725:0.0:0.8275:0.0	.	61	Q9NZF1	PLAC8_HUMAN	W	61;61;4;61;61	.	ENSP00000309509:C61W	C	-	3	2	PLAC8	84245133	1.000000	0.71417	1.000000	0.80357	0.248000	0.25809	3.484000	0.53201	0.818000	0.34468	0.561000	0.74099	TGC	PLAC8	-	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	ENSG00000145287		0.483	PLAC8-003	PUTATIVE	basic|exp_conf	protein_coding	PLAC8	HGNC	protein_coding	OTTHUMT00000363078.1		0	48	0	G	NM_016619		84026109	-1			no_errors	ENST00000311507	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	C	C	84026109	G	C	84026109	3	2	88	1	0	0	0	0	1	0	0	0	12054	963	34	5	172	5	PLAC8	4	84026109	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	9566810	84026109	107128167	42	25191											
PDLIM5	10611	genome.wustl.edu	37	chr4	95578595	95578595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaagtcatcagtgcgttGaaacaaacttggcatgtttc	12	11	10	8	1	2	1	2	1	0	0	3	2	2	2	0	2	3	3	0	2	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:95578595G>A	ENST00000317968.4	+	11	1618	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	PDLIM5_ENST00000437932.1_Silent_p.L385L|PDLIM5_ENST00000514743.1_Silent_p.L523L|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Silent_p.L372L	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	494	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TCAGTGCGTTGAAACAAACTT	0.368																																																	0													168	148	155					4																	95578595		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1482G>A	4.37:g.95578595G>A			A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Silent	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.L494	ENST00000317968.4	37	c.1482	CCDS3641.1	4																																																																																			PDLIM5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000163110		0.368	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	-	0	64	0	G			95578595	1	tier1	-	no_errors	ENST00000317968	ensembl	human	known	74_37	silent	38.00	31	19	SNP	1.000	A	A	95578595	G	A	95578595	2	1	88	1	0	0	0	0	0	0	0	1	11722	1281	45	3		3	PDLIM5	4	95578595	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	11552486	95578595	95575681	43	25192											
CASP6	839	genome.wustl.edu	37	chr4	110610548	110610548	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcaaaacagggaacctGcttctttccaattgcacttg	11	11	9	10	0	1	1	0	1	1	0	2	2	2	2	2	2	4	3	2	2	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:110610548G>A	ENST00000265164.2	-	7	897	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	CASP6_ENST00000510324.1_5'UTR|AC004067.5_ENST00000608733.1_RNA|CASP6_ENST00000352981.3_Nonsense_Mutation_p.Q185*	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	274					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CAGGGAACCTGCTTCTTTCCA	0.398																																																	0													77	83	81					4																	110610548		2203	4300	6503	SO:0001587	stop_gained	0			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.820C>T	4.37:g.110610548G>A	ENSP00000265164:p.Gln274*		Q9BQE7	Nonsense_Mutation	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.Q274*	ENST00000265164.2	37	c.820	CCDS3684.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.128596	0.97310	.	.	ENSG00000138794	ENST00000352981;ENST00000265164	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	185;274	.	ENSP00000265164:Q274X	Q	-	1	0	CASP6	110829997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.307000	0.96226	2.941000	0.99782	0.655000	0.94253	CAG	CASP6	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10	ENSG00000138794		0.398	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	-	0	59	0	G	NM_001226		110610548	-1	tier1	-	no_errors	ENST00000265164	ensembl	human	known	74_37	nonsense	28.57	40	16	SNP	1.000	A	A	110610548	G	A	110610548	4	1	88	1	0	0	0	0	0	1	0	0	2682	1328	46	3	65	3	CASP6	4	110610548	Nonsense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	15031953	110610548	80543728	44	25193											
PRSS12	8492	genome.wustl.edu	37	chr4	119229726	119229726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccatccatcagtctgacaGgaaaacctaagtcatgattc	13	10	6	12	0	3	2	2	2	1	0	6	3	5	3	3	1	1	0	3	1	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:119229726G>T	ENST00000296498.3	-	8	1778	c.1496C>A	c.(1495-1497)cCt>cAt	p.P499H		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	499					exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGTCTGACAGGAAAACCTAA	0.383																																																	0													177	151	160					4																	119229726		2203	4300	6503	SO:0001583	missense	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"Serine peptidases / Serine peptidases"	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1496C>A	4.37:g.119229726G>T	ENSP00000296498:p.Pro499His		Q9UP16	Missense_Mutation	SNP	pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A	p.P499H	ENST00000296498.3	37	c.1496	CCDS3709.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316300	0.81469	.	.	ENSG00000164099	ENST00000296498	T	0.29142	1.58	5.66	5.66	0.87406	Speract/scavenger receptor-related (1);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	M	0.72576	2.205	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	T	0.58967	-0.7542	10	0.66056	D	0.02	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	499	P56730	NETR_HUMAN	H	499	ENSP00000296498:P499H	ENSP00000296498:P499H	P	-	2	0	PRSS12	119449174	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	6.257000	0.72480	2.665000	0.90641	0.650000	0.86243	CCT	PRSS12	-	superfamily_Srcr_rcpt-rel	ENSG00000164099		0.383	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS12	HGNC	protein_coding	OTTHUMT00000256516.2	-	0	71	0	G			119229726	-1	tier1	-	no_errors	ENST00000296498	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	119229726	G	T	119229726	3	4	88	1	0	0	0	0	1	0	0	0	12657	1000	35	3	1155	3	PRSS12	4	119229726	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	8619178	119229726	71924550	45	25194											
ANXA5	308	genome.wustl.edu	37	chr4	122607522	122607522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagtcacagtgcctctGagaacctaattcacgaaaca	15	8	7	11	1	4	1	3	1	1	1	4	3	4	1	2	0	3	0	2	0	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:122607522G>T	ENST00000296511.5	-	3	300	c.15C>A	c.(13-15)ctC>ctA	p.L5L	ANXA5_ENST00000515017.1_Silent_p.L5L|ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	5					blood coagulation (GO:0007596)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of coagulation (GO:0050819)|response to organic substance (GO:0010033)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipase inhibitor activity (GO:0004859)|phospholipid binding (GO:0005543)			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						CAGTGCCTCTGAGAACCTAAT	0.403																																					Pancreas(191;1279 2147 16046 17806 52646)|GBM(88;628 1285 16585 32846 50188)												0													89	86	87					4																	122607522		2203	4300	6503	SO:0001819	synonymous_variant	0			U05770	CCDS3720.1	4q27	2008-02-05			ENSG00000164111	ENSG00000164111		"Annexins"	543	protein-coding gene	gene with protein product		131230		ENX2, ANX5		2960376	Standard	NM_001154		Approved		uc003idv.4	P08758	OTTHUMG00000133034	ENST00000296511.5:c.15C>A	4.37:g.122607522G>T			D3DNW7|Q6FHB3|Q6FI16|Q8WV69|Q9UDH9	Silent	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV	p.L5	ENST00000296511.5	37	c.15	CCDS3720.1	4																																																																																			ANXA5	-	NULL	ENSG00000164111		0.403	ANXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA5	HGNC	protein_coding	OTTHUMT00000256636.2	-	0	42	0	G	NM_001154		122607522	-1	tier1	-	no_errors	ENST00000296511	ensembl	human	known	74_37	silent	12.00	22	3	SNP	0.199	T	T	122607522	G	T	122607522	2	4	88	1	0	0	0	0	0	0	0	1	721	1277	45	3		3	ANXA5	4	122607522	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	3377796	122607522	68546754	46	25195											
TRPC3	7222	genome.wustl.edu	37	chr4	122853924	122853924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttcttgagcagcagctcGgtcacctccaggtgctcgtt	5	12	10	14	2	2	1	1	1	1	0	6	1	4	1	3	2	4	5	3	2	0	3	rs200026421		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:122853924G>A	ENST00000379645.3	-	2	562	c.489C>T	c.(487-489)acC>acT	p.T163T	TRPC3_ENST00000264811.5_Silent_p.T90T|TRPC3_ENST00000513531.1_Silent_p.T90T	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	78					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCAGCAGCTCGGTCACCTCCA	0.622																																																	0													60	53	55					4																	122853924		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"Voltage-gated ion channels / Transient receptor potential cation channels"	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.489C>T	4.37:g.122853924G>A			A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.T163	ENST00000379645.3	37	c.489	CCDS47130.1	4																																																																																			TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000138741		0.622	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0	41	0	G	NM_003305		122853924	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	silent	51.85	13	14	SNP	0.000	A	A	122853924	G	A	122853924	2	1	88	1	0	0	0	0	0	0	0	1	16627	1103	39	1		1	TRPC3	4	122853924	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	246402	122853924	68300352	47	25196											
FAT4	79633	genome.wustl.edu	37	chr4	126238185	126238185	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctggtgtccaagggcGgactggaccgtgaggtcact	7	9	15	10	2	2	1	1	1	1	0	3	3	3	3	2	5	1	1	2	5	1	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:126238185G>T	ENST00000394329.3	+	1	632	c.619G>T	c.(619-621)Gga>Tga	p.G207*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	207	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCCAAGGGCGGACTGGACCG	0.632											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													43	50	48					4																	126238185		2100	4223	6323	SO:0001587	stop_gained	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.619G>T	4.37:g.126238185G>T	ENSP00000377862:p.Gly207*	1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G207*	ENST00000394329.3	37	c.619	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	34	5.315425	0.95655	.	.	ENSG00000196159	ENST00000394329	.	.	.	5.31	4.47	0.54385	.	0.000000	0.34986	U	0.003538	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	9.4906	0.38958	0.0752:0.1429:0.7819:0.0	.	.	.	.	X	207	.	ENSP00000377862:G207X	G	+	1	0	FAT4	126457635	1.000000	0.71417	0.999000	0.59377	0.554000	0.35429	5.362000	0.66098	1.224000	0.43551	0.655000	0.94253	GGA	FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.632	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0	42	0	G	NM_024582		126238185	1			no_errors	ENST00000394329	ensembl	human	known	74_37	nonsense	11.54	23	3	SNP	1.000	T	T	126238185	G	T	126238185	4	4	88	1	0	0	0	0	0	1	0	0	5714	1117	39	2	621	2	FAT4	4	126238185	Nonsense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	3384261	126238185	64916091	48	25197											
PCDH18	54510	genome.wustl.edu	37	chr4	138451019	138451019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgggtggtgctggtaagTtgattcggccaccctgcagt	5	14	14	8	1	0	1	0	1	0	0	1	1	0	1	2	4	2	4	2	4	1	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:138451019T>A	ENST00000344876.4	-	1	2610	c.2224A>T	c.(2224-2226)Act>Tct	p.T742S	PCDH18_ENST00000507846.1_Missense_Mutation_p.T522S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.T742S|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	742					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCTGGTAAGTTGATTCGGCC	0.473																																																	0													201	168	179					4																	138451019		2203	4300	6503	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"Cadherins / Protocadherins : Non-clustered"	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2224A>T	4.37:g.138451019T>A	ENSP00000355082:p.Thr742Ser		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T742S	ENST00000344876.4	37	c.2224	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	T	6.038	0.375447	0.11409	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.50001	0.84;0.86;0.76	5.53	5.53	0.82687	.	0.000000	0.44688	D	0.000440	T	0.32556	0.0833	N	0.20881	0.62	0.80722	D	1	B;B;B	0.25955	0.087;0.138;0.087	B;B;B	0.28139	0.033;0.086;0.033	T	0.13791	-1.0496	10	0.02654	T	1	.	15.8331	0.78773	0.0:0.0:0.0:1.0	.	522;742;742	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	S	742;742;522	ENSP00000355082:T742S;ENSP00000390688:T742S;ENSP00000425903:T522S	ENSP00000355082:T742S	T	-	1	0	PCDH18	138670469	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.473000	0.81007	2.315000	0.78130	0.533000	0.62120	ACT	PCDH18	-	NULL	ENSG00000189184		0.473	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	-	0	45	0	T	NM_019035		138451019	-1	tier1	-	no_errors	ENST00000344876	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.994	A	A	138451019	T	A	138451019	3	1	88	1	0	0	0	0	1	0	0	0	11552	1725	60	5	1199	5	PCDH18	4	138451019	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	12212834	138451019	52703257	49	25198											
FBXW7	55294	genome.wustl.edu	37	chr4	153252003	153252003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttttcttctcttgatgtGcaatggttcatcaatcccta	8	18	5	10	0	4	1	2	1	2	0	6	1	5	1	1	1	2	2	1	1	4	7			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:153252003G>A	ENST00000281708.4	-	7	2232	c.1003C>T	c.(1003-1005)Cac>Tac	p.H335Y	FBXW7_ENST00000263981.5_Missense_Mutation_p.H255Y|FBXW7_ENST00000296555.5_Missense_Mutation_p.H217Y|FBXW7_ENST00000393956.3_Missense_Mutation_p.H159Y|FBXW7_ENST00000603841.1_Missense_Mutation_p.H335Y|FBXW7_ENST00000603548.1_Missense_Mutation_p.H335Y	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	335					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCTTGATGTGCAATGGTTCA	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"																																			Rec	yes		4	4q31.3	55294	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"		"E, L"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											228	201	210					4																	153252003		2202	4300	6502	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"F-boxes / WD-40 domains", "WD repeat domain containing"	16712	protein-coding gene	gene with protein product	"archipelago homolog (Drosophila)"	606278	"F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)", "F-box and WD repeat domain containing 7"			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1003C>T	4.37:g.153252003G>A	ENSP00000281708:p.His335Tyr		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H335Y	ENST00000281708.4	37	c.1003	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	5.435	0.265317	0.10294	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	6.16	6.16	0.99307	F-box domain, Skp2-like (1);	0.133483	0.64402	D	0.000002	T	0.34221	0.0890	N	0.11560	0.145	0.58432	D	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.34601	-0.9822	10	0.02654	T	1	-18.6152	20.8598	0.99761	0.0:0.0:1.0:0.0	.	159;335;217;255	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Y	335;217;255;159	ENSP00000281708:H335Y;ENSP00000296555:H217Y;ENSP00000263981:H255Y;ENSP00000377528:H159Y	ENSP00000263981:H255Y	H	-	1	0	FBXW7	153471453	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.681000	0.68175	2.937000	0.99478	0.650000	0.86243	CAC	FBXW7	-	superfamily_F-box_dom	ENSG00000109670		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0	56	0	G			153252003	-1	tier1	-	no_errors	ENST00000281708	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	153252003	G	A	153252003	3	1	88	1	0	0	0	0	1	0	0	0	5791	1319	46	3	1144	3	FBXW7	4	153252003	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	14800984	153252003	37902273	50	25199											
DCHS2	54798	genome.wustl.edu	37	chr4	155219058	155219058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtggctgaaggaaatCtttacatcttctccttccat	9	14	9	9	0	3	1	0	1	3	0	5	2	4	2	2	4	1	1	2	4	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:155219058C>A	ENST00000357232.4	-	18	5042	c.5043G>T	c.(5041-5043)aaG>aaT	p.K1681N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1681	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAAGGAAATCTTTACATCTT	0.453																																																	0													80	80	80					4																	155219058		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5043G>T	4.37:g.155219058C>A	ENSP00000349768:p.Lys1681Asn		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K1681N	ENST00000357232.4	37	c.5043	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650401	0.29336	.	.	ENSG00000197410	ENST00000357232	T	0.55052	0.54	5.82	2.66	0.31614	Cadherin (1);	0.847069	0.10789	N	0.634007	T	0.34658	0.0905	N	0.20881	0.62	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.23048	-1.0199	10	0.15952	T	0.53	.	7.864	0.29526	0.0:0.6649:0.1246:0.2106	.	1681	Q6V1P9	PCD23_HUMAN	N	1681	ENSP00000349768:K1681N	ENSP00000349768:K1681N	K	-	3	2	DCHS2	155438508	0.019000	0.18553	0.001000	0.08648	0.989000	0.77384	1.294000	0.33365	0.767000	0.33267	0.650000	0.86243	AAG	DCHS2	-	smart_Cadherin	ENSG00000197410		0.453	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	44	0	C	NM_001142552		155219058	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.000	A	A	155219058	C	A	155219058	3	1	88	1	0	0	0	0	1	0	0	0	4297	912	32	3	3739	3	DCHS2	4	155219058	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1967055	155219058	35935218	51	25200											
TDO2	6999	genome.wustl.edu	37	chr4	156831349	156831349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaggaaaagacacttCtggaattagtggaggtatgg	13	9	14	5	0	1	2	0	1	1	1	1	5	1	5	0	5	1	2	0	5	5	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:156831349C>A	ENST00000536354.2	+	6	668	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_005651.3	NP_005642.1			tryptophan 2,3-dioxygenase											breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)		AAAGACACTTCTGGAATTAGT	0.308																																					Colon(57;928 1036 2595 6946 26094)												0													55	59	57					4																	156831349		2202	4299	6501	SO:0001583	missense	0				CCDS34086.1	4q31-q32	2008-02-05				ENSG00000151790	1.13.11.11		11708	protein-coding gene	gene with protein product		191070					Standard	NM_005651		Approved	TDO, TPH2	uc003ipf.2	P48775		ENST00000536354.2:c.604C>A	4.37:g.156831349C>A	ENSP00000444788:p.Leu202Met			Missense_Mutation	SNP	pfam_Trp_2_3_dOase	p.L202M	ENST00000536354.2	37	c.604	CCDS34086.1	4	.	.	.	.	.	.	.	.	.	.	C	14.42	2.528840	0.44969	.	.	ENSG00000151790	ENST00000536354	.	.	.	4.92	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.85710	2.77	0.80722	D	1	P	0.44006	0.824	P	0.51866	0.682	T	0.76537	-0.2923	9	0.46703	T	0.11	-14.8693	12.6982	0.57016	0.0:0.9177:0.0:0.0823	.	202	P48775	T23O_HUMAN	M	202	.	ENSP00000281525:L202M	L	+	1	2	TDO2	157050799	0.984000	0.35163	0.799000	0.32177	0.126000	0.20510	2.684000	0.46951	1.175000	0.42826	0.644000	0.83932	CTG	TDO2	-	pfam_Trp_2_3_dOase	ENSG00000151790		0.308	TDO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDO2	HGNC	protein_coding	OTTHUMT00000366209.3		0	24	0	C	NM_005651		156831349	1			no_errors	ENST00000536354	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	A	A	156831349	C	A	156831349	3	1	88	1	0	0	0	0	1	0	0	0	15774	912	32	3	626	3	TDO2	4	156831349	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1612291	156831349	34322927	52	25201											
STOX2	56977	genome.wustl.edu	37	chr4	184930364	184930364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgctgaacacgctggtaCgggagaggaagatctaccca	13	5	12	11	3	1	3	0	1	1	2	1	5	1	4	1	3	3	3	1	3	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:184930364C>T	ENST00000308497.4	+	3	1808	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	STOX2_ENST00000438269.1_Missense_Mutation_p.R125W	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	125					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CACGCTGGTACGGGAGAGGAA	0.433																																																	0													55	52	53					4																	184930364		1938	4164	6102	SO:0001583	missense	0			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.373C>T	4.37:g.184930364C>T	ENSP00000311257:p.Arg125Trp		A6H8U4|Q9NPS8	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.R125W	ENST00000308497.4	37	c.373	CCDS47167.1	4	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597543	0.87055	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	T;T;T	0.78481	-1.18;-1.18;-1.18	5.55	4.69	0.59074	Storkhead-box protein, winged-helix domain (1);	0.000000	0.85682	D	0.000000	D	0.84383	0.5460	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86319	0.1691	10	0.87932	D	0	-18.0413	15.7836	0.78286	0.1371:0.8629:0.0:0.0	.	125	Q9P2F5	STOX2_HUMAN	W	125;125;63	ENSP00000311257:R125W;ENSP00000390127:R125W;ENSP00000425388:R63W	ENSP00000311257:R125W	R	+	1	2	STOX2	185167358	0.998000	0.40836	0.950000	0.38849	0.988000	0.76386	3.680000	0.54641	1.534000	0.49203	0.655000	0.94253	CGG	STOX2	-	pfam_Storkhead-box_winged-helix	ENSG00000173320		0.433	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	0	38	0	C	NM_020225		184930364	1	tier1	-	no_errors	ENST00000308497	ensembl	human	known	74_37	missense	37.84	23	14	SNP	0.996	T	T	184930364	C	T	184930364	3	4	88	1	0	0	0	0	1	0	0	0	15367	527	19	1	383	1	STOX2	4	184930364	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	28099015	184930364	6223912	53	25202											
SORBS2	8470	genome.wustl.edu	37	chr4	186598448	186598448	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgggttagtttcaaGgtagaaatcctccgagtttg	9	15	12	5	1	1	1	1	0	0	1	3	2	3	1	2	3	0	5	2	3	5	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr4:186598448G>T	ENST00000284776.7	-	4	465				SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|RP11-626E13.1_ENST00000447277.1_RNA|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000437304.2_Silent_p.T65T|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TTAGTTTCAAGGTAGAAATCC	0.483																																					Esophageal Squamous(153;41 2433 9491 36028)												0													252	214	226					4																	186598448		692	1591	2283	SO:0001627	intron_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.44+1128C>A	4.37:g.186598448G>T			A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.T65	ENST00000284776.7	37	c.195	CCDS3845.1	4																																																																																			SORBS2	-	NULL	ENSG00000154556		0.483	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3		0	23	0	G	NM_003603		186598448	-1			no_errors	ENST00000437304	ensembl	human	putative	74_37	silent	7.69	24	2	SNP	0.996	T	T	186598448	G	T	186598448	1	4	88	0	1	0	0	0	0	0	0	0	14973	987	35	3		3	SORBS2	4	186598448	Intron	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	1668084	186598448	4555828	54	25203											
SDHA	6389	genome.wustl.edu	37	chr5	235447	235447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcattcccaccaactacaAggggcaggtgatggtgctgg	9	7	14	11	1	0	1	0	1	0	0	1	1	1	1	2	6	3	3	2	6	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:235447A>G	ENST00000264932.6	+	9	1368	c.1253A>G	c.(1252-1254)aAg>aGg	p.K418R	SDHA_ENST00000504309.1_Missense_Mutation_p.K418R|SDHA_ENST00000510361.1_Missense_Mutation_p.K370R	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	418					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACCAACTACAAGGGGCAGGTG	0.582									Familial Paragangliomas																																								0													52	46	48					5																	235447		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1253A>G	5.37:g.235447A>G	ENSP00000264932:p.Lys418Arg		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.K418R	ENST00000264932.6	37	c.1253	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	a	13.16	2.153964	0.38021	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.70516	-0.49;-0.49;-0.49	5.12	3.69	0.42338	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.52208	0.1720	N	0.21194	0.64	0.51767	D	0.999935	B;B;B;B;B	0.14012	0.005;0.004;0.009;0.001;0.001	B;B;B;B;B	0.19666	0.026;0.011;0.016;0.004;0.004	T	0.37407	-0.9707	10	0.20519	T	0.43	.	7.898	0.29719	0.8768:0.0:0.1232:0.0	.	370;418;418;418;424	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	R	418;273;418;370	ENSP00000264932:K418R;ENSP00000426514:K418R;ENSP00000427703:K370R	ENSP00000264932:K418R	K	+	2	0	SDHA	288447	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.331000	0.65905	0.905000	0.36596	0.455000	0.32223	AAG	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.582	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	-	0	104	0	A	NM_004168		235447	1	tier1	-	no_errors	ENST00000264932	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G	G	235447	A	G	235447	3	3	88	1	0	0	0	0	1	0	0	0	14008	72	3	4	1287	4	SDHA	5	235447	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09		235447	180679813	55	25204											
CLPTM1L	81037	genome.wustl.edu	37	chr5	1330411	1330411	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacctcaatggcggctccaAcacccgccgggaccagcacc	9	4	9	19	3	2	0	2	0	0	0	3	1	3	1	6	3	2	2	6	3	2	0	rs557678777	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:1330411A>T	ENST00000320895.5	-	9	1321	c.1064T>A	c.(1063-1065)gTt>gAt	p.V355D	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	355					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGCGGCTCCAACACCCGCCGG	0.622																																																	0													71	64	67					5																	1330411		2200	4295	6495	SO:0001583	missense	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"cisplatin resistance related protein"	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1064T>A	5.37:g.1330411A>T	ENSP00000313854:p.Val355Asp		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.V355D	ENST00000320895.5	37	c.1064	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983219	0.74474	.	.	ENSG00000049656	ENST00000320895	T	0.52057	0.68	4.84	4.84	0.62591	.	0.450872	0.24783	N	0.035635	T	0.60612	0.2282	M	0.65677	2.01	0.80722	D	1	P	0.41643	0.758	P	0.52758	0.708	T	0.64820	-0.6317	10	0.87932	D	0	-5.8683	13.4121	0.60948	1.0:0.0:0.0:0.0	.	355	Q96KA5	CLP1L_HUMAN	D	355	ENSP00000313854:V355D	ENSP00000313854:V355D	V	-	2	0	CLPTM1L	1383411	0.850000	0.29656	0.002000	0.10522	0.001000	0.01503	6.850000	0.75420	1.796000	0.52611	0.533000	0.62120	GTT	CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.622	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	-	0	76	0	A	NM_030782		1330411	-1	tier1	-	no_errors	ENST00000320895	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.249	T	T	1330411	A	T	1330411	3	4	88	1	0	0	0	0	1	0	0	0	3562	43	2	5	588	5	CLPTM1L	5	1330411	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	1094964	1330411	179584849	56	25205											
MARCH6	10299	genome.wustl.edu	37	chr5	10411602	10411602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatactccagcagggagggCctgttggctttcagccttac	7	10	11	13	0	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:10411602C>T	ENST00000274140.5	+	19	1981	c.1849C>T	c.(1849-1851)Cct>Tct	p.P617S	MARCH6_ENST00000510792.1_Missense_Mutation_p.P315S|MARCH6_ENST00000503788.1_Missense_Mutation_p.P512S|MARCH6_ENST00000449913.2_Missense_Mutation_p.P569S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	617					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GCAGGGAGGGCCTGTTGGCTT	0.448																																																	0													73	70	71					5																	10411602		2203	4300	6503	SO:0001583	missense	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1849C>T	5.37:g.10411602C>T	ENSP00000274140:p.Pro617Ser		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.P617S	ENST00000274140.5	37	c.1849	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021596	0.75275	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	M	0.74258	2.255	0.80722	D	1	P;D;D;D	0.67145	0.735;0.995;0.996;0.973	B;P;P;P	0.62298	0.284;0.844;0.9;0.593	T	0.59456	-0.7451	10	0.45353	T	0.12	-19.514	19.2764	0.94032	0.0:1.0:0.0:0.0	.	512;569;197;617	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	S	569;512;617;315	ENSP00000414643:P569S;ENSP00000425930:P512S;ENSP00000274140:P617S;ENSP00000424512:P315S	ENSP00000274140:P617S	P	+	1	0	MARCH6	10464602	1.000000	0.71417	0.650000	0.29550	0.984000	0.73092	7.434000	0.80377	2.628000	0.89032	0.563000	0.77884	CCT	MARCH6	-	NULL	ENSG00000145495		0.448	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2		0	55	0	C	NM_005885		10411602	1			no_errors	ENST00000274140	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	10411602	C	T	10411602	3	4	88	1	0	0	0	0	1	0	0	0	9343	739	26	3	1923	3	MARCH6	5	10411602	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	9081191	10411602	170503658	57	25206											
DNAH5	1767	genome.wustl.edu	37	chr5	13885264	13885264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttttcctcgtgactgtCgtcaaaagcagggcattggc	7	14	10	10	2	2	1	1	1	1	0	5	1	3	1	1	2	1	2	1	2	2	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:13885264C>T	ENST00000265104.4	-	19	2921	c.2817G>A	c.(2815-2817)acG>acA	p.T939T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	939	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTGACTGTCGTCAAAAGCA	0.418									Kartagener syndrome																																								0													95	95	95					5																	13885264		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2817G>A	5.37:g.13885264C>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T939	ENST00000265104.4	37	c.2817	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	39	0	C	NM_001369		13885264	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	silent	45.16	17	14	SNP	0.000	T	T	13885264	C	T	13885264	2	4	88	1	0	0	0	0	0	0	0	1	4618	871	31	1		1	DNAH5	5	13885264	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	3473662	13885264	167029996	58	25207											
DNAH5	1767	genome.wustl.edu	37	chr5	13922278	13922278	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagccttccagggagctcaAgaactcctggcgaatgttag	12	8	11	10	1	1	1	1	0	0	1	3	3	3	2	3	2	3	2	3	2	5	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:13922278A>T	ENST00000265104.4	-	5	702	c.598T>A	c.(598-600)Ttg>Atg	p.L200M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	200	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGGAGCTCAAGAACTCCTGG	0.542									Kartagener syndrome																																								0													90	80	83					5																	13922278		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.598T>A	5.37:g.13922278A>T	ENSP00000265104:p.Leu200Met		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L200M	ENST00000265104.4	37	c.598	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	.	12.63	1.994827	0.35226	.	.	ENSG00000039139	ENST00000265104	T	0.26660	1.72	5.55	-0.153	0.13403	.	0.073232	0.53938	D	0.000058	T	0.27027	0.0662	M	0.71206	2.165	0.44816	D	0.997823	B	0.28933	0.228	B	0.31614	0.133	T	0.07558	-1.0766	10	0.59425	D	0.04	.	10.0241	0.42061	0.3625:0.0:0.6375:0.0	.	200	Q8TE73	DYH5_HUMAN	M	200	ENSP00000265104:L200M	ENSP00000265104:L200M	L	-	1	2	DNAH5	13975278	1.000000	0.71417	0.991000	0.47740	0.738000	0.42128	1.225000	0.32551	-0.321000	0.08627	-1.144000	0.01866	TTG	DNAH5	-	NULL	ENSG00000039139		0.542	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	50	0	A	NM_001369		13922278	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.991	T	T	13922278	A	T	13922278	3	4	88	1	0	0	0	0	1	0	0	0	4618	69	3	5	13576	5	DNAH5	5	13922278	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	37014	13922278	166992982	59	25208											
F2RL2	2151	genome.wustl.edu	37	chr5	75913661	75913661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccatctatgatcgtatgCattaagtgtccggatgatgg	11	12	10	8	2	1	2	0	2	1	0	3	3	2	3	2	2	2	2	2	2	4	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:75913661C>A	ENST00000296641.4	-	2	1074	c.871G>T	c.(871-873)Gca>Tca	p.A291S	IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.A269S	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	291					blood coagulation (GO:0007596)|metabolic process (GO:0008152)|platelet activation (GO:0030168)|response to wounding (GO:0009611)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|thrombin receptor activity (GO:0015057)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TGATCGTATGCATTAAGTGTC	0.378																																																	0													94	83	87					5																	75913661		2203	4300	6503	SO:0001583	missense	0			U92971	CCDS4031.1, CCDS58959.1	5q13	2012-08-08			ENSG00000164220	ENSG00000164220		"GPCR / Class A : Protease activated receptors"	3539	protein-coding gene	gene with protein product	"proteinase-activated receptor-3"	601919				9087410, 9722561	Standard	NM_004101		Approved	PAR3	uc003kem.4	O00254	OTTHUMG00000102119	ENST00000296641.4:c.871G>T	5.37:g.75913661C>A	ENSP00000296641:p.Ala291Ser		B2R754|B4DQ13|Q52M68|Q7Z3W3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.A291S	ENST00000296641.4	37	c.871	CCDS4031.1	5	.	.	.	.	.	.	.	.	.	.	C	0.551	-0.849408	0.02651	.	.	ENSG00000164220	ENST00000296641;ENST00000504899	T;T	0.36340	1.26;1.26	5.3	-2.55	0.06288	GPCR, rhodopsin-like superfamily (1);	0.805653	0.11562	N	0.551675	T	0.14313	0.0346	N	0.11364	0.135	0.09310	N	1	B	0.21071	0.051	B	0.19946	0.027	T	0.32268	-0.9913	10	0.10377	T	0.69	-0.1072	5.6326	0.17518	0.2134:0.3039:0.0:0.4827	.	291	O00254	PAR3_HUMAN	S	291;269	ENSP00000296641:A291S;ENSP00000426703:A269S	ENSP00000296641:A291S	A	-	1	0	F2RL2	75949417	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.940000	0.03929	-1.025000	0.03334	-0.222000	0.12452	GCA	F2RL2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000164220		0.378	F2RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL2	HGNC	protein_coding	OTTHUMT00000219958.3		0	38	0	C			75913661	-1			no_errors	ENST00000296641	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.000	A	A	75913661	C	A	75913661	3	1	88	1	0	0	0	0	1	0	0	0	5361	710	25	3	257	3	F2RL2	5	75913661	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	61991383	75913661	105001599	60	25209											
APC	324	genome.wustl.edu	37	chr5	112174268	112174268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctgaagatgatgaaagtAagttttgcagttatggtcaa	14	14	10	3	0	2	4	1	3	1	1	2	4	2	4	0	1	1	4	0	1	5	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:112174268A>C	ENST00000457016.1	+	16	3357	c.2977A>C	c.(2977-2979)Aag>Cag	p.K993Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.K993Q|APC_ENST00000257430.4_Missense_Mutation_p.K993Q			P25054	APC_HUMAN	adenomatous polyposis coli	993	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K993fs*11(1)|p.K993fs*1(1)|p.?(1)|p.K993*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATGAAAGTAAGTTTTGCAG	0.348		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	4	Substitution - Nonsense(1)|Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	large_intestine(3)|skin(1)	GRCh37	CM056294	APC	M							86	81	83					5																	112174268		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2977A>C	5.37:g.112174268A>C	ENSP00000413133:p.Lys993Gln		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K993Q	ENST00000457016.1	37	c.2977	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	A	17.00	3.276317	0.59649	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94457	-2.71;-3.43;-2.71;-2.71;-2.89	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.93436	0.7906	L	0.47716	1.5	0.48395	D	0.999644	D;P	0.54207	0.965;0.956	P;P	0.49799	0.622;0.543	D	0.93154	0.6552	10	0.51188	T	0.08	-24.7215	11.958	0.52993	0.9305:0.0:0.0695:0.0	.	995;993	Q4LE70;P25054	.;APC_HUMAN	Q	993;975;993;993;993	ENSP00000413133:K993Q;ENSP00000423224:K975Q;ENSP00000257430:K993Q;ENSP00000427089:K993Q;ENSP00000423828:K993Q	ENSP00000257430:K993Q	K	+	1	0	APC	112202167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.948000	0.75965	2.201000	0.70794	0.533000	0.62120	AAG	APC	-	NULL	ENSG00000134982		0.348	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0	49	0	A	NM_000038		112174268	1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	C	C	112174268	A	C	112174268	3	2	88	1	0	0	0	0	1	0	0	0	763	363	13	4	3035	4	APC	5	112174268	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	36260607	112174268	68740992	61	25210											
H2AFY	9555	genome.wustl.edu	37	chr5	134679025	134679025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaagcagtttttcactGtcttttccagaagttcttca	8	15	8	10	0	4	1	2	0	2	1	5	1	5	1	2	1	1	3	2	1	2	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:134679025G>A	ENST00000511689.1	-	8	1471	c.878C>T	c.(877-879)aCa>aTa	p.T293I	H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000304332.4_Missense_Mutation_p.T292I|H2AFY_ENST00000423969.2_Missense_Mutation_p.T121I|H2AFY_ENST00000510038.1_Missense_Mutation_p.T293I|H2AFY_ENST00000312469.4_Missense_Mutation_p.T290I|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.V103I	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	293	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTTTCACTGTCTTTTCCAG	0.507																																																	0													161	153	156					5																	134679025		2203	4300	6503	SO:0001583	missense	0			AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"Histones / Replication-independent"	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.878C>T	5.37:g.134679025G>A	ENSP00000423563:p.Thr293Ile		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom	p.T293I	ENST00000511689.1	37	c.878	CCDS4185.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.039890|5.039890	0.93630|0.93630	.|.	.|.	ENSG00000113648|ENSG00000224186	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038|ENST00000432382	T;T;T;T;T|.	0.21932|.	1.98;1.98;1.98;1.98;1.98|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Appr-1-p processing (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73032|0.73032	0.3535|0.3535	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.71674|.	0.868;0.976;0.998;0.981|.	D;P;D;P|.	0.83275|.	0.921;0.528;0.996;0.659|.	T|T	0.74016|0.74016	-0.3800|-0.3800	10|6	0.72032|0.87932	D|D	0.01|0	.|.	19.942|19.942	0.97168|0.97168	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	121;292;290;293|.	B4DJC3;O75367-3;O75367-2;O75367|.	.;.;.;H2AY_HUMAN|.	I|I	293;292;290;121;293|103	ENSP00000423563:T293I;ENSP00000302572:T292I;ENSP00000310169:T290I;ENSP00000415121:T121I;ENSP00000424971:T293I|.	ENSP00000302572:T292I|ENSP00000402151:V103I	T|V	-|+	2|1	0|0	H2AFY|CTC-203F4.1	134706924|134706924	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.993000|0.993000	0.82548|0.82548	9.790000|9.790000	0.99075|0.99075	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	ACA|GTC	H2AFY	-	pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom	ENSG00000113648		0.507	H2AFY-001	KNOWN	basic|CCDS	protein_coding	H2AFY	HGNC	protein_coding	OTTHUMT00000251196.3	-	0	77	0	G	NM_004893		134679025	-1	tier1	-	no_errors	ENST00000511689	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	134679025	G	A	134679025	3	1	88	1	0	0	0	0	1	0	0	0	6956	1377	48	3	248	3	H2AFY	5	134679025	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	22504757	134679025	46236235	62	25211											
MGC29506	51237	genome.wustl.edu	37	chr5	138725510	138725512	+	In_Frame_Del	DEL	CAG	CAG	-																															cctgggatggcccaggctccCagcagcagcagcagcagtgg																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:138725510_138725512delCAG	ENST00000302125.8	-	1	91_93	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	MZB1_ENST00000412103.2_5'UTR|MZB1_ENST00000457570.2_In_Frame_Del_p.L12del	NM_016459.3	NP_057543.2	Q8WU39	MZB1_HUMAN	marginal zone B and B1 cell-specific protein	12					apoptotic process (GO:0006915)|integrin activation (GO:0033622)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin biosynthetic process (GO:0002642)|regulation of B cell proliferation (GO:0030888)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)											CCCAGGCTCCcagcagcagcagc	0.626																																																	0										3,22,3657		0,0,3,3,16,1819						1.3	0.7			37	1,48,7121		0,0,1,6,36,3542	no	codingComplex	MZB1	NM_016459.3		0,0,4,9,52,5361	A1A1,A1A2,A1R,A2A2,A2R,RR		0.6834,0.679,0.6819				4,70,10778				SO:0001651	inframe_deletion	0			AF151024	CCDS47273.1	5q31.2	2012-09-27	2012-09-19		ENSG00000170476	ENSG00000170476			30125	protein-coding gene	gene with protein product	"plasma cell-induced ER protein 1", "proapoptotic caspase adaptor protein", "mesenteric oestrogen-dependent adipose gene- 7"	609447				22573353, 12573802, 11350957, 21093319, 21688198	Standard	NM_016459		Approved	PACAP, MGC29506, HSPC190, pERp1, MEDA-7	uc003lei.3	Q8WU39	OTTHUMG00000163390	ENST00000302125.8:c.34_36delCTG	5.37:g.138725519_138725521delCAG	ENSP00000303920:p.Leu12del		D2IYS0|Q7Z6N2|Q96RL5|Q9P0T3	In_Frame_Del	DEL	NULL	p.L12in_frame_del	ENST00000302125.8	37	c.36_34	CCDS47273.1	5																																																																																			MZB1	-	NULL	ENSG00000170476		0.626	MZB1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MZB1	HGNC	protein_coding	OTTHUMT00000373055.1		0	39	0	CAG	NM_016459		138725512	-1	tier1		no_errors	ENST00000503481	ensembl	human	known	74_37	in_frame_del	8.82	31	3	DEL	0.366:0.352:0.265	-	-	138725512	CAG	-	138725510	7	5	88	1	0	1	0	1	0	0	0	0	9589	581	21	0	549	0	MGC29506	5	138725510	In_Frame_Del	DEL	CAG	TCGA-L5-A8NN-01A-11D-A37C-09	4046485	138725510	42189750	63	25212											
HARS	3035	genome.wustl.edu	37	chr5	140070819	140070819	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcggcgctggccttcTgctgcttgaggcctcgcacg	3	9	13	16	4	1	1	0	1	1	0	3	1	1	1	3	3	3	5	3	3	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:140070819T>G	ENST00000504156.1	-	1	790	c.71A>C	c.(70-72)cAg>cCg	p.Q24P	HARS2_ENST00000435019.2_5'Flank|HARS2_ENST00000437649.2_5'Flank|HARS_ENST00000438307.2_Missense_Mutation_p.Q24P|HARS_ENST00000307633.3_Missense_Mutation_p.Q24P|HARS2_ENST00000508522.1_5'Flank|HARS_ENST00000431330.2_Missense_Mutation_p.Q24P|HARS2_ENST00000230771.3_5'Flank|HARS2_ENST00000448069.2_5'Flank|HARS_ENST00000457527.2_Missense_Mutation_p.Q24P|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000415192.2_Missense_Mutation_p.Q24P|HARS2_ENST00000432671.2_5'Flank	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	24	WHEP-TRS.				gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GCTGGCCTTCTGCTGCTTGAG	0.637																																																	0													41	34	36					5																	140070819		2203	4300	6503	SO:0001583	missense	0			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"Aminoacyl tRNA synthetases / Class II"	4816	protein-coding gene	gene with protein product	"histidine tRNA ligase 1, cytoplasmic"	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.71A>C	5.37:g.140070819T>G	ENSP00000425634:p.Gln24Pro		B4DHQ1|B4DY73|D6REN6|J3KNE5	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase	p.Q24P	ENST00000504156.1	37	c.71	CCDS4237.1	5	.	.	.	.	.	.	.	.	.	.	t	18.45	3.626811	0.66901	.	.	ENSG00000170445	ENST00000504156;ENST00000457527;ENST00000431330;ENST00000307633;ENST00000438307;ENST00000415192;ENST00000507746	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.55	5.55	0.83447	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.602793	0.18266	N	0.146474	T	0.43831	0.1265	L	0.53249	1.67	0.80722	D	1	D;P;P;B;B;B;B;B	0.59357	0.985;0.586;0.586;0.0;0.001;0.0;0.0;0.0	P;B;B;B;B;B;B;B	0.57468	0.821;0.303;0.303;0.001;0.003;0.003;0.001;0.001	T	0.10941	-1.0608	10	0.17832	T	0.49	-2.2198	14.8147	0.70024	0.0:0.0:0.0:1.0	.	24;24;24;24;24;24;24;24	B4DEA2;B4E1C5;B4DDD8;B4DHQ1;B4DY73;Q52NV4;D6REN6;P12081	.;.;.;.;.;.;.;SYHC_HUMAN	P	24	ENSP00000425634:Q24P;ENSP00000387893:Q24P;ENSP00000393244:Q24P;ENSP00000304668:Q24P;ENSP00000411511:Q24P;ENSP00000411085:Q24P;ENSP00000425889:Q24P	ENSP00000304668:Q24P	Q	-	2	0	HARS	140051003	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.572000	0.53849	2.333000	0.79357	0.533000	0.62120	CAG	HARS	-	pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS	ENSG00000170445		0.637	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	-	0	47	0	T	NM_002109		140070819	-1	tier1	-	no_errors	ENST00000504156	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	G	G	140070819	T	G	140070819	3	3	88	1	0	0	0	0	1	0	0	0	6986	1580	55	4	1510	4	HARS	5	140070819	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	1345309	140070819	40844441	64	25213											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482041	140482041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccagaacgcctggctgtCgtaccagctgctcaaggcca	8	6	13	14	2	1	1	1	0	0	1	2	1	1	1	4	3	4	4	4	3	3	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:140482041C>T	ENST00000231130.2	+	1	1808	c.1808C>T	c.(1807-1809)tCg>tTg	p.S603L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	603	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTGGCTGTCGTACCAGCTG	0.731																																																	0													11	12	12					5																	140482041		1519	3216	4735	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1808C>T	5.37:g.140482041C>T	ENSP00000231130:p.Ser603Leu		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S603L	ENST00000231130.2	37	c.1808	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227534	0.79576	.	.	ENSG00000113205	ENST00000231130	T	0.54071	0.59	4.23	4.23	0.50019	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72946	0.3524	M	0.77406	2.37	0.42041	D	0.991071	D	0.89917	1.0	D	0.77557	0.99	T	0.78942	-0.2005	9	0.87932	D	0	.	16.6363	0.85060	0.0:1.0:0.0:0.0	.	603	Q9Y5E6	PCDB3_HUMAN	L	603	ENSP00000231130:S603L	ENSP00000231130:S603L	S	+	2	0	PCDHB3	140462225	0.987000	0.35691	0.974000	0.42286	0.978000	0.69477	3.469000	0.53093	2.065000	0.61736	0.556000	0.70494	TCG	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113205		0.731	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	192	0	C	NM_018937		140482041	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	56.59	88	116	SNP	1.000	T	T	140482041	C	T	140482041	3	4	88	1	0	0	0	0	1	0	0	0	11582	893	31	1	1810	1	PCDHB3	5	140482041	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	411222	140482041	40433219	65	25214											
PCDHB8	56128	genome.wustl.edu	37	chr5	140558872	140558872	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcagagccgagtacaaCgtcactatcaccgtcactga	14	6	9	12	3	3	2	3	1	0	1	3	4	3	2	2	0	4	2	2	0	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:140558872C>T	ENST00000239444.2	+	1	1502	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAGTACAACGTCACTATCA	0.512																																																	0													166	200	188					5																	140558872		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1257C>T	5.37:g.140558872C>T			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N419	ENST00000239444.2	37	c.1257	CCDS4250.1	5																																																																																			PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120322		0.512	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	366	0	C	NM_019120		140558872	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	silent	20.23	271	69	SNP	0.060	T	T	140558872	C	T	140558872	2	4	88	1	0	0	0	0	0	0	0	1	11587	535	19	1		1	PCDHB8	5	140558872	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	76831	140558872	40356388	66	25215											
CSF1R	1436	genome.wustl.edu	37	chr5	149449556	149449556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcaccgtcaccttgtGgaagggctcctggctcagga	6	9	13	13	1	3	0	2	0	1	0	4	2	4	2	3	4	1	4	3	4	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:149449556G>T	ENST00000286301.3	-	10	1681	c.1390C>A	c.(1390-1392)Cac>Aac	p.H464N	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	464	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GTCACCTTGTGGAAGGGCTCC	0.592																																																	0													105	102	103					5																	149449556		2203	4300	6503	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1390C>A	5.37:g.149449556G>T	ENSP00000286301:p.His464Asn		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H464N	ENST00000286301.3	37	c.1390	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	0.397	-0.920565	0.02396	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.41065	1.01	5.78	2.68	0.31781	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.430095	0.22150	N	0.063922	T	0.33760	0.0874	L	0.56769	1.78	0.80722	D	1	P;B	0.38335	0.627;0.381	B;B	0.36030	0.216;0.14	T	0.08046	-1.0741	10	0.18276	T	0.48	.	9.2661	0.37641	0.0:0.2903:0.5602:0.1495	.	316;464	B4E2Y8;P07333	.;CSF1R_HUMAN	N	464;316	ENSP00000286301:H464N	ENSP00000286301:H464N	H	-	1	0	CSF1R	149429749	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	0.473000	0.22132	1.429000	0.47314	0.555000	0.69702	CAC	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182578		0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0	50	0	G	NM_005211		149449556	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.997	T	T	149449556	G	T	149449556	3	4	88	1	0	0	0	0	1	0	0	0	3941	1348	47	3	1580	3	CSF1R	5	149449556	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	8890684	149449556	31465704	67	25216											
RPS14	6208	genome.wustl.edu	37	chr5	149827257	149827257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaggtccgaggctgatgaCctgttcttccttcttttcct	4	16	9	12	1	2	3	0	3	2	0	5	4	5	3	4	2	0	2	4	2	0	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr5:149827257C>T	ENST00000401695.3	-	2	86	c.40G>A	c.(40-42)Gtc>Atc	p.V14I	RPS14_ENST00000312037.5_Missense_Mutation_p.V14I|RPS14_ENST00000407193.1_Missense_Mutation_p.V14I			P62263	RS14_HUMAN	ribosomal protein S14	14					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|maturation of SSU-rRNA (GO:0030490)|mRNA metabolic process (GO:0016071)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)|translation regulator activity (GO:0045182)			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCTGATGACCTGTTCTTCC	0.443																																																	0													136	119	125					5																	149827257		2203	4300	6503	SO:0001583	missense	0				CCDS4307.1	5q31-q33	2012-10-02			ENSG00000164587	ENSG00000164587		"S ribosomal proteins"	10387	protein-coding gene	gene with protein product	"emetine resistance", "40S ribosomal protein S14"	130620				3785212, 1549121	Standard	XM_006714790		Approved	EMTB, S14	uc003lsj.3	P62263	OTTHUMG00000130080	ENST00000401695.3:c.40G>A	5.37:g.149827257C>T	ENSP00000385958:p.Val14Ile		B2R5G5|D3DQG5|P06366|Q5BJI0	Missense_Mutation	SNP	pfam_Ribosomal_S11,pirsf_Ribosomal_S11	p.V14I	ENST00000401695.3	37	c.40	CCDS4307.1	5	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804687	0.70682	.	.	ENSG00000164587	ENST00000401695;ENST00000407193;ENST00000521466;ENST00000312037	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	M	0.76170	2.325	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67465	-0.5664	9	0.49607	T	0.09	.	18.7862	0.91955	0.0:1.0:0.0:0.0	.	14	P62263	RS14_HUMAN	I	14	.	ENSP00000311028:V14I	V	-	1	0	RPS14	149807450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.498000	0.84270	0.557000	0.71058	GTC	RPS14	-	pirsf_Ribosomal_S11	ENSG00000164587		0.443	RPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS14	HGNC	protein_coding	OTTHUMT00000252373.1	-	0	59	0	C	NM_001025071		149827257	-1	tier1	-	no_errors	ENST00000312037	ensembl	human	known	74_37	missense	57.14	15	20	SNP	1.000	T	T	149827257	C	T	149827257	3	4	88	1	0	0	0	0	1	0	0	0	13669	507	18	3	431	3	RPS14	5	149827257	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	377701	149827257	31088003	68	25217											
TXNDC5	81567	genome.wustl.edu	37	chr6	7889014	7889014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtcgctccagtctctgtgCgctgcagctgcgactccacg	4	9	11	17	5	1	0	0	0	1	0	5	1	3	0	3	0	4	4	3	0	0	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:7889014C>T	ENST00000379757.4	-	7	924	c.887G>A	c.(886-888)cGc>cAc	p.R296H	TXNDC5_ENST00000539054.1_Missense_Mutation_p.R224H|TXNDC5_ENST00000473453.1_Missense_Mutation_p.R188H|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	296					apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					AGTCTCTGTGCGCTGCAGCTG	0.642																																					Ovarian(119;1430 1625 3928 26125 34589)												0													145	139	141					6																	7889014		2203	4300	6503	SO:0001583	missense	0			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"Protein disulfide isomerases"	21073	protein-coding gene	gene with protein product	"protein disulfide isomerase family A, member 15"		"thioredoxin domain containing 5"				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.887G>A	6.37:g.7889014C>T	ENSP00000369081:p.Arg296His		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.R296H	ENST00000379757.4	37	c.887	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	C	9.598	1.127855	0.20959	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.03663	3.86;3.85;3.87	4.98	3.07	0.35406	Thioredoxin-like fold (1);	0.627416	0.17833	N	0.160478	T	0.00875	0.0029	N	0.14661	0.345	0.09310	N	0.999997	B;D	0.54772	0.008;0.968	B;B	0.41036	0.001;0.346	T	0.53464	-0.8435	10	0.45353	T	0.12	.	4.7573	0.13090	0.0:0.5698:0.1883:0.2418	.	224;296	Q86UY0;Q8NBS9	.;TXND5_HUMAN	H	224;296;188	ENSP00000442453:R224H;ENSP00000369081:R296H;ENSP00000420784:R188H	ENSP00000442453:R224H	R	-	2	0	TXNDC5	7834013	0.003000	0.15002	0.778000	0.31720	0.089000	0.18198	1.091000	0.30915	2.470000	0.83445	0.561000	0.74099	CGC	TXNDC5	-	superfamily_Thioredoxin-like_fold	ENSG00000239264		0.642	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	-	0	71	0	C	NM_030810		7889014	-1	tier1	-	no_errors	ENST00000379757	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.359	T	T	7889014	C	T	7889014	3	4	88	1	0	0	0	0	1	0	0	0	16848	768	27	1	427	1	TXNDC5	6	7889014	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		7889014	163226053	69	25218											
HIVEP1	3096	genome.wustl.edu	37	chr6	12130057	12130057	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagatgcctctgaaattaaCagtgagcaagataaagaaaa	21	7	8	5	0	1	5	0	2	1	3	1	5	1	5	1	0	3	1	1	0	8	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:12130057C>T	ENST00000379388.2	+	5	6473	c.6141C>T	c.(6139-6141)aaC>aaT	p.N2047N	HIVEP1_ENST00000541134.1_Intron	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2047					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAAATTAACAGTGAGCAAG	0.294																																																	0													61	57	58					6																	12130057		1808	4072	5880	SO:0001819	synonymous_variant	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6141C>T	6.37:g.12130057C>T			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N2047	ENST00000379388.2	37	c.6141	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.294	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	38	0	C	NM_002114		12130057	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T	T	12130057	C	T	12130057	2	4	88	1	0	0	0	0	0	0	0	1	7213	477	17	3		3	HIVEP1	6	12130057	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	4241043	12130057	158985010	70	25219											
MICA	100507436	genome.wustl.edu	37	chr6	31378347	31378347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttcgttataacctcaCggtgctgtcctgggatggat	7	13	11	10	2	2	0	1	0	1	0	4	2	3	2	2	3	2	2	2	3	2	3	rs17206504	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:31378347C>T	ENST00000449934.2	+	2	152	c.98C>T	c.(97-99)aCg>aTg	p.T33M	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TATAACCTCACGGTGCTGTCC	0.502																																																	0													6	7	7					6																	31378347		688	1574	2262	SO:0001583	missense	0			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"Immunoglobulin superfamily / C1-set domain containing"	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.98C>T	6.37:g.31378347C>T	ENSP00000413079:p.Thr33Met			Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.T33M	ENST00000449934.2	37	c.98	CCDS56412.1	6	.	.	.	.	.	.	.	.	.	.	N	8.971	0.973057	0.18736	.	.	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.01165	5.24;5.24	2.89	0.925	0.19424	.	0.448615	0.16322	N	0.219527	T	0.00524	0.0017	M	0.69185	2.1	0.09310	N	1	P	0.37141	0.584	B	0.31946	0.138	T	0.48305	-0.9047	10	0.48119	T	0.1	.	5.8614	0.18749	0.0:0.6933:0.0:0.3067	rs17206504	33	Q96QC4	.	M	33;33;33;20	ENSP00000413079:T33M;ENSP00000402410:T20M	ENSP00000365394:T33M	T	+	2	0	MICA	31486326	0.000000	0.05858	0.002000	0.10522	0.097000	0.18754	-0.711000	0.05019	0.361000	0.24292	0.306000	0.20318	ACG	MICA	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204520		0.502	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7		0	57	0	C	NM_001177519		31378347	1			no_errors	ENST00000449934	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	31378347	C	T	31378347	3	4	88	1	0	0	0	0	1	0	0	0	9606	536	19	1	104	1	MICA	6	31378347	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	19248290	31378347	139736720	71	25220											
MDGA1	266727	genome.wustl.edu	37	chr6	37622643	37622643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgttacgcacagacacCtggcaggtgtagctggcata	11	7	11	12	2	0	1	0	0	0	1	0	1	0	1	1	3	2	6	1	3	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:37622643C>T	ENST00000434837.3	-	5	1823	c.645G>A	c.(643-645)caG>caA	p.Q215Q	MDGA1_ENST00000297153.7_Silent_p.Q215Q|MDGA1_ENST00000505425.1_Silent_p.Q215Q	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	215	Ig-like 2.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCACAGACACCTGGCAGGTGT	0.612																																																	0													144	155	152					6																	37622643		2160	4254	6414	SO:0001819	synonymous_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.645G>A	6.37:g.37622643C>T			A6NHG0|Q8NBE3	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.Q215	ENST00000434837.3	37	c.645	CCDS47417.1	6																																																																																			MDGA1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.612	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	61	0	C			37622643	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	silent	35.85	34	19	SNP	1.000	T	T	37622643	C	T	37622643	2	4	88	1	0	0	0	0	0	0	0	1	9444	680	24	3		3	MDGA1	6	37622643	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	6244296	37622643	133492424	72	25221											
DAAM2	23500	genome.wustl.edu	37	chr6	39847239	39847239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactgaagtccttcaactggGtgaagctgaatgaggtgagc	11	9	13	8	0	1	5	1	5	0	0	2	5	2	5	1	2	3	1	1	2	4	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:39847239G>T	ENST00000398904.2	+	14	2013	c.1831G>T	c.(1831-1833)Gtg>Ttg	p.V611L	DAAM2_ENST00000274867.4_Missense_Mutation_p.V611L|RP11-61I13.3_ENST00000607675.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.V611L			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	611	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTCAACTGGGTGAAGCTGAA	0.607																																																	0													76	77	77					6																	39847239		1952	4109	6061	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1831G>T	6.37:g.39847239G>T	ENSP00000381876:p.Val611Leu		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.V611L	ENST00000398904.2	37	c.1831	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963184	0.18583	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.17370	2.28;2.28;2.28	5.15	4.28	0.50868	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.239181	0.34853	N	0.003634	T	0.10809	0.0264	L	0.58810	1.83	0.80722	D	1	P;P	0.41131	0.739;0.605	B;B	0.43360	0.293;0.417	T	0.06752	-1.0809	10	0.21014	T	0.42	.	13.2879	0.60253	0.0:0.0:0.7126:0.2873	.	611;611	G5EA45;Q86T65	.;DAAM2_HUMAN	L	611	ENSP00000274867:V611L;ENSP00000381876:V611L;ENSP00000437808:V611L	ENSP00000274867:V611L	V	+	1	0	DAAM2	39955217	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	2.269000	0.43346	1.142000	0.42291	-0.175000	0.13238	GTG	DAAM2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000146122		0.607	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1		0	67	0	G			39847239	1			no_errors	ENST00000274867	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.999	T	T	39847239	G	T	39847239	3	4	88	1	0	0	0	0	1	0	0	0	4225	1261	44	3	1881	3	DAAM2	6	39847239	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	2224596	39847239	131267828	73	25222											
CUL9	23113	genome.wustl.edu	37	chr6	43188266	43188266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgcacctgccccattGccgactgccccgcccagccc	6	7	8	20	2	0	1	0	1	0	0	0	2	0	1	8	0	5	1	8	0	1	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:43188266G>T	ENST00000252050.4	+	32	6436	c.6352G>T	c.(6352-6354)Gcc>Tcc	p.A2118S	CUL9_ENST00000372647.2_Missense_Mutation_p.A2090S|CUL9_ENST00000354495.3_Missense_Mutation_p.A2008S|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2118					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGCCCCATTGCCGACTGCCC	0.582																																																	0													152	147	149					6																	43188266		2203	4300	6503	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6352G>T	6.37:g.43188266G>T	ENSP00000252050:p.Ala2118Ser		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.A2118S	ENST00000252050.4	37	c.6352	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434950	0.43224	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.72505	-0.66;-0.66;-0.55	5.44	4.58	0.56647	Zinc finger, RING-type (1);	0.188173	0.46758	D	0.000274	T	0.35393	0.0930	L	0.41236	1.265	0.34401	D	0.695287	B;B;B	0.29136	0.234;0.08;0.08	B;B;B	0.25506	0.061;0.015;0.015	T	0.15009	-1.0452	10	0.16420	T	0.52	-10.9349	5.4569	0.16596	0.1642:0.0:0.6316:0.2042	.	2008;2090;2118	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	S	2118;2008;2090	ENSP00000252050:A2118S;ENSP00000346490:A2008S;ENSP00000361730:A2090S	ENSP00000252050:A2118S	A	+	1	0	CUL9	43296244	0.767000	0.28508	0.995000	0.50966	0.992000	0.81027	0.928000	0.28831	1.309000	0.44985	0.555000	0.69702	GCC	CUL9	-	NULL	ENSG00000112659		0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	-	0	53	0	G	NM_015089		43188266	1	tier1	-	no_errors	ENST00000252050	ensembl	human	known	74_37	missense	6.15	60	4	SNP	0.972	T	T	43188266	G	T	43188266	3	4	88	1	0	0	0	0	1	0	0	0	4070	1319	46	3	6474	3	CUL9	6	43188266	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	3341027	43188266	127926801	74	25223											
CAPN11	11131	genome.wustl.edu	37	chr6	44145038	44145038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagggggatgacccagagGatgacgcagagggcaatgtt	11	6	17	7	1	0	5	0	3	0	2	0	7	0	7	1	4	0	3	1	4	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:44145038G>T	ENST00000398776.1	+	12	1335	c.1297G>T	c.(1297-1299)Gat>Tat	p.D433Y	CAPN11_ENST00000542245.1_Missense_Mutation_p.D433Y	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	433	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGACCCAGAGGATGACGCAGA	0.602																																																	0													34	38	37					6																	44145038		2132	4252	6384	SO:0001583	missense	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"EF-hand domain containing"	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1297G>T	6.37:g.44145038G>T	ENSP00000381758:p.Asp433Tyr		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D433Y	ENST00000398776.1	37	c.1297	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312930	0.40895	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88046	-2.33;-2.33	1.84	0.955	0.19602	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.877750	0.09764	N	0.758868	T	0.76062	0.3935	L	0.36672	1.1	0.29919	N	0.822885	P;P	0.45634	0.863;0.863	P;P	0.49387	0.609;0.548	T	0.65973	-0.6038	10	0.87932	D	0	.	6.3103	0.21161	0.1734:0.0:0.8266:0.0	.	87;433	B4DT90;Q9UMQ6	.;CAN11_HUMAN	Y	433	ENSP00000381758:D433Y;ENSP00000441078:D433Y	ENSP00000381758:D433Y	D	+	1	0	CAPN11	44253016	0.018000	0.18449	0.140000	0.22221	0.036000	0.12997	-0.006000	0.12833	0.343000	0.23821	0.561000	0.74099	GAT	CAPN11	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000137225		0.602	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	-	0	26	0	G			44145038	1	tier1	-	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.902	T	T	44145038	G	T	44145038	3	4	88	1	0	0	0	0	1	0	0	0	2631	1174	41	3	1343	3	CAPN11	6	44145038	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	956772	44145038	126970029	75	25224											
MYB	4602	genome.wustl.edu	37	chr6	135518458	135518458	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctacccttctctccctcGcaggtagaacacaatttctg	9	11	6	15	1	2	1	0	0	2	1	5	1	3	1	3	1	3	2	3	1	4	4	rs55983257		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:135518458G>A	ENST00000367814.4	+	9	1389				MYB_ENST00000534121.1_Silent_p.S505S|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Silent_p.S518S|MYB_ENST00000316528.8_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000341911.5_Silent_p.S521S|MYB_ENST00000533624.1_Intron|MYB_ENST00000534044.1_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTCCCTCGCAGGTAGAAC	0.453			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0								G	,,,,,,,	0,3136		0,0,1568	63	61	62		,1563,1554,,1515,,,	1.7	1	6	dbSNP_129	62	1,7163		0,1,3581	no	intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,intron,intron	MYB	NM_001130172.1,NM_001130173.1,NM_001161656.1,NM_001161657.1,NM_001161658.1,NM_001161659.1,NM_001161660.1,NM_005375.2	,,,,,,,	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	,,,,,,,	,521/762,518/759,,505/746,,,	135518458	1,10299	1568	3582	5150	SO:0001627	intron_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1203+1318G>A	6.37:g.135518458G>A			E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Silent	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S521	ENST00000367814.4	37	c.1563	CCDS5174.1	6																																																																																			MYB	-	pfam_C-myb_C	ENSG00000118513		0.453	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4		0	34	0	G			135518458	1			no_errors	ENST00000341911	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	A	A	135518458	G	A	135518458	1	1	88	0	1	0	0	0	0	0	0	0	10045	1074	38	1		1	MYB	6	135518458	Intron	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	91373420	135518458	35596609	76	25225											
PLAGL1	5325	genome.wustl.edu	37	chr6	144263369	144263369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggtgaggtgatccttgCgcccaaatctctgggcacag	7	8	14	12	2	1	2	0	2	1	0	3	2	2	2	3	3	1	1	3	3	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:144263369C>T	ENST00000360537.2	-	5	2497	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PLAGL1_ENST00000437412.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000444202.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000354765.2_Missense_Mutation_p.R195H|PLAGL1_ENST00000367571.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000392307.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000429150.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000367572.1_Missense_Mutation_p.R143H|PLAGL1_ENST00000416623.1_Missense_Mutation_p.R195H|PLAGL1_ENST00000392309.1_Missense_Mutation_p.R195H			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	195					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R195H(1)		endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GTGATCCTTGCGCCCAAATCT	0.562											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	large_intestine(1)											95	85	89					6																	144263369		2203	4300	6503	SO:0001583	missense	0			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"Zinc fingers, C2H2-type"	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.584G>A	6.37:g.144263369C>T	ENSP00000353734:p.Arg195His	1685	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R195H	ENST00000360537.2	37	c.584	CCDS5202.1	6	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890367	0.91889	.	.	ENSG00000118495	ENST00000360537;ENST00000354765;ENST00000444202;ENST00000429150;ENST00000392309;ENST00000416623;ENST00000437412;ENST00000392307;ENST00000367572;ENST00000367571;ENST00000417959	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000006	T	0.62307	0.2417	L	0.38733	1.17	0.53688	D	0.999979	D	0.67145	0.996	D	0.65573	0.936	T	0.65372	-0.6184	10	0.87932	D	0	-50.0108	18.9562	0.92659	0.0:1.0:0.0:0.0	.	195	Q9UM63	PLAL1_HUMAN	H	195;195;195;195;195;195;143;143;143;195;143	ENSP00000353734:R195H;ENSP00000346810:R195H;ENSP00000400929:R195H;ENSP00000398409:R195H;ENSP00000376125:R195H;ENSP00000400060:R195H;ENSP00000392418:R143H;ENSP00000376124:R143H;ENSP00000356544:R143H;ENSP00000356543:R195H;ENSP00000395960:R143H	ENSP00000346810:R195H	R	-	2	0	PLAGL1	144305062	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.768000	0.85345	2.710000	0.92621	0.655000	0.94253	CGC	PLAGL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000118495		0.562	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL1	HGNC	protein_coding	OTTHUMT00000042541.1		0	44	0	C			144263369	-1			no_errors	ENST00000354765	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	144263369	C	T	144263369	3	4	88	1	0	0	0	0	1	0	0	0	12058	768	27	1	811	1	PLAGL1	6	144263369	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	8744911	144263369	26851698	77	25226											
MTHFD1L	25902	genome.wustl.edu	37	chr6	151336054	151336054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggctgctgtaacctccaGaagcaaattcagatcactca	13	8	8	12	1	3	2	3	0	0	2	4	3	4	2	2	1	3	4	2	1	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:151336054G>T	ENST00000367321.3	+	23	2620	c.2346G>T	c.(2344-2346)caG>caT	p.Q782H		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	782	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTAACCTCCAGAAGCAAATTC	0.478											OREG0017732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													136	114	121					6																	151336054		2203	4300	6503	SO:0001583	missense	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"10-formyl-THF synthetase", "mitochondrial C1-tetrahydrofolate synthase", "monofunctional C1-tetrahydrofolate synthase, mitochondrial"	611427	"formyltetrahydrofolate synthetase domain containing 1"	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2346G>T	6.37:g.151336054G>T	ENSP00000356290:p.Gln782His	1739	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.Q782H	ENST00000367321.3	37	c.2346	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572516	0.65765	.	.	ENSG00000120254	ENST00000367321;ENST00000420192	T;T	0.22945	1.93;1.93	6.16	5.29	0.74685	.	0.153233	0.64402	D	0.000014	T	0.33177	0.0854	M	0.76328	2.33	0.80722	D	1	P;B;P	0.48911	0.915;0.158;0.917	P;B;P	0.51742	0.663;0.409;0.678	T	0.15122	-1.0448	10	0.48119	T	0.1	.	18.7262	0.91714	0.0612:0.0:0.9388:0.0	.	783;537;782	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	H	782;13	ENSP00000356290:Q782H;ENSP00000395158:Q13H	ENSP00000356290:Q782H	Q	+	3	2	MTHFD1L	151377747	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.159000	0.50731	0.950000	0.37743	-0.813000	0.03139	CAG	MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1		0	57	0	G	NM_015440		151336054	1			no_errors	ENST00000367321	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	151336054	G	T	151336054	3	4	88	1	0	0	0	0	1	0	0	0	9966	933	33	3	2436	3	MTHFD1L	6	151336054	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	7072685	151336054	19779013	78	25227											
SLC22A1	6580	genome.wustl.edu	37	chr6	160543205	160543205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgccaggcctggggcccGcgggcgaggccttccttggc	3	6	17	15	3	0	0	0	0	0	0	1	1	1	0	5	6	1	0	5	6	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr6:160543205G>A	ENST00000366963.4	+	1	385	c.238G>A	c.(238-240)Gcg>Acg	p.A80T	SLC22A1_ENST00000324965.4_Missense_Mutation_p.A80T|SLC22A1_ENST00000457470.2_Missense_Mutation_p.A80T	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	80					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CCTGGGGCCCGCGGGCGAGGC	0.662																																																	0													40	48	45					6																	160543205		2203	4300	6503	SO:0001583	missense	0			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.238G>A	6.37:g.160543205G>A	ENSP00000355930:p.Ala80Thr		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A80T	ENST00000366963.4	37	c.238	CCDS5274.1	6	.	.	.	.	.	.	.	.	.	.	G	0.479	-0.880826	0.02530	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.74315	-0.66;-0.83;-0.82	5.5	-1.39	0.08997	.	1.141820	0.06304	N	0.701367	T	0.26955	0.0660	N	0.19112	0.55	0.09310	N	1	B;B	0.14012	0.009;0.006	B;B	0.13407	0.009;0.009	T	0.03728	-1.1009	10	0.13470	T	0.59	.	1.5551	0.02583	0.2171:0.2572:0.3491:0.1767	.	80;80	O15245-2;O15245	.;S22A1_HUMAN	T	80	ENSP00000355930:A80T;ENSP00000318103:A80T;ENSP00000409557:A80T	ENSP00000318103:A80T	A	+	1	0	SLC22A1	160463195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.088000	0.11198	-0.534000	0.06315	-1.367000	0.01198	GCG	SLC22A1	-	tigrfam_Orgcat_transp	ENSG00000175003		0.662	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	-	0	60	0	G			160543205	1	tier1	-	no_errors	ENST00000366963	ensembl	human	known	74_37	missense	50.00	24	24	SNP	0.000	A	A	160543205	G	A	160543205	3	1	88	1	0	0	0	0	1	0	0	0	14485	1087	38	1	240	1	SLC22A1	6	160543205	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	9207151	160543205	10571862	79	25228											
ELMO1	9844	genome.wustl.edu	37	chr7	37256263	37256263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactcactgttaaaatgatgGaacgcagttgcttctgagcc	11	12	9	9	1	2	2	1	2	1	0	2	3	2	3	1	1	4	4	1	1	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:37256263G>A	ENST00000310758.4	-	11	1465	c.818C>T	c.(817-819)tCc>tTc	p.S273F	ELMO1_ENST00000448602.1_Missense_Mutation_p.S273F|ELMO1_ENST00000442504.1_Missense_Mutation_p.S273F	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	273					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TAAAATGATGGAACGCAGTTG	0.463																																																	0													167	152	157					7																	37256263		2203	4300	6503	SO:0001583	missense	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"Engulfment and cell motility proteins"	16286	protein-coding gene	gene with protein product		606420	"engulfment and cell motility 1 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.818C>T	7.37:g.37256263G>A	ENSP00000312185:p.Ser273Phe		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.S273F	ENST00000310758.4	37	c.818	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.641733|2.641733	0.47153|0.47153	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000433246|ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000424212	.|T;T;T;T	.|0.32988	.|2.43;2.43;2.43;1.43	4.59|4.59	2.69|2.69	0.31865|0.31865	.|.	.|0.063998	.|0.64402	.|D	.|0.000004	T|T	0.34135|0.34135	0.0887|0.0887	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|B	.|0.33171	.|0.4	.|B	.|0.43680	.|0.427	T|T	0.21552|0.21552	-1.0242|-1.0242	5|10	.|0.56958	.|D	.|0.05	.|.	4.2069|4.2069	0.10493|0.10493	0.0885:0.1536:0.5879:0.17|0.0885:0.1536:0.5879:0.17	.|.	.|273	.|Q92556	.|ELMO1_HUMAN	S|F	53|273;177;273;273;14	.|ENSP00000312185:S273F;ENSP00000406952:S273F;ENSP00000394458:S273F;ENSP00000395933:S14F	.|ENSP00000312185:S273F	P|S	-|-	1|2	0|0	ELMO1|ELMO1	37222788|37222788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.486000|2.486000	0.45259|0.45259	1.171000|1.171000	0.42768|0.42768	0.655000|0.655000	0.94253|0.94253	CCA|TCC	ELMO1	-	pfam_DUF3361	ENSG00000155849		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	-	0	42	0	G	NM_130442		37256263	-1	tier1	-	no_errors	ENST00000310758	ensembl	human	known	74_37	missense	72.73	9	24	SNP	1.000	A	A	37256263	G	A	37256263	3	1	88	1	0	0	0	0	1	0	0	0	5081	1174	41	3	1413	3	ELMO1	7	37256263	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		37256263	121882400	80	25229											
SAMD9L	219285	genome.wustl.edu	37	chr7	92764139	92764139	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgccttcattccatactcTtcttcagcctcttttctaga	7	18	3	13	0	6	1	2	0	4	1	7	1	7	1	3	0	3	0	3	0	2	9			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:92764139T>C	ENST00000318238.4	-	5	2362	c.1146A>G	c.(1144-1146)gaA>gaG	p.E382E	SAMD9L_ENST00000437805.1_Silent_p.E382E|SAMD9L_ENST00000411955.1_Silent_p.E382E	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	382					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCCATACTCTTCTTCAGCCT	0.398																																																	0													173	183	179					7																	92764139		2203	4299	6502	SO:0001819	synonymous_variant	0			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"Sterile alpha motif (SAM) domain containing"	1349	protein-coding gene	gene with protein product		611170	"chromosome 7 open reading frame 6"	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1146A>G	7.37:g.92764139T>C			A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM	p.E382	ENST00000318238.4	37	c.1146	CCDS34681.1	7																																																																																			SAMD9L	-	NULL	ENSG00000177409		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9L	HGNC	protein_coding	OTTHUMT00000341730.1	-	0	24	0	T	NM_152703		92764139	-1	tier1	-	no_errors	ENST00000318238	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.574	C	C	92764139	T	C	92764139	2	2	88	1	0	0	0	0	0	0	0	1	13872	1606	56	4		4	SAMD9L	7	92764139	Silent	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	55507876	92764139	66374524	81	25230											
MUC17	140453	genome.wustl.edu	37	chr7	100676491	100676491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaactcctgctgactccaaCacttttgtgaccacttctag	10	12	5	14	0	1	2	0	2	1	0	3	2	3	2	3	0	3	1	3	0	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:100676491C>G	ENST00000306151.4	+	3	1858	c.1794C>G	c.(1792-1794)aaC>aaG	p.N598K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	598	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGACTCCAACACTTTTGTGA	0.468																																																	0													233	236	235					7																	100676491		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1794C>G	7.37:g.100676491C>G	ENSP00000302716:p.Asn598Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.N598K	ENST00000306151.4	37	c.1794	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	1.354	-0.590613	0.03799	.	.	ENSG00000169876	ENST00000306151	T	0.02395	4.31	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01156	0.0038	N	0.03608	-0.345	0.09310	N	1	B	0.18166	0.026	B	0.06405	0.002	T	0.47394	-0.9121	9	0.21014	T	0.42	.	3.4345	0.07441	0.0:0.2876:0.2172:0.4952	.	598	Q685J3	MUC17_HUMAN	K	598	ENSP00000302716:N598K	ENSP00000302716:N598K	N	+	3	2	MUC17	100463211	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.924000	0.03996	-0.860000	0.04099	-0.531000	0.04308	AAC	MUC17	-	NULL	ENSG00000169876		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	119	0	C	NM_001040105		100676491	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	27.62	76	29	SNP	0.007	G	G	100676491	C	G	100676491	3	3	88	1	0	0	0	0	1	0	0	0	10012	477	17	5	1804	5	MUC17	7	100676491	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	7912352	100676491	58462172	82	25231											
NAPEPLD	222236	genome.wustl.edu	37	chr7	102760610	102760610	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagccagcttccctcactcCagcttcttcagggttagtga	8	12	8	13	0	3	1	2	1	1	0	5	1	5	1	3	1	3	3	3	1	2	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:102760610C>A	ENST00000417955.1	-	3	509	c.355G>T	c.(355-357)Gga>Tga	p.G119*	NAPEPLD_ENST00000341533.4_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000465647.1_Nonsense_Mutation_p.G119*|NAPEPLD_ENST00000455523.2_Nonsense_Mutation_p.G192*|NAPEPLD_ENST00000427257.1_Nonsense_Mutation_p.G119*			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	119					phospholipid catabolic process (GO:0009395)	extracellular vesicular exosome (GO:0070062)|photoreceptor outer segment membrane (GO:0042622)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCCTCACTCCAGCTTCTTCA	0.433																																																	0													118	110	113					7																	102760610		2203	4300	6503	SO:0001587	stop_gained	0			BC037350, AY357337	CCDS5729.1	7q22.1	2014-03-14			ENSG00000161048	ENSG00000161048	3.1.4.54		21683	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 18, N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D"	612334				14634025, 15820312, 18067139	Standard	NM_198990		Approved	FMP30, C7orf18, NAPE-PLD	uc003vbd.2	Q6IQ20	OTTHUMG00000157204	ENST00000417955.1:c.355G>T	7.37:g.102760610C>A	ENSP00000407112:p.Gly119*		Q5CZ87|Q769K1	Nonsense_Mutation	SNP	NULL	p.G192*	ENST00000417955.1	37	c.574	CCDS5729.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.527567	0.98339	.	.	ENSG00000161048	ENST00000341533;ENST00000417955;ENST00000465647;ENST00000427257;ENST00000455523;ENST00000418294	.	.	.	6.02	4.19	0.49359	.	0.191735	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-43.6001	11.8364	0.52327	0.0:0.8109:0.1234:0.0658	.	.	.	.	X	119;119;119;119;192;119	.	ENSP00000340093:G119X	G	-	1	0	NAPEPLD	102547846	0.998000	0.40836	0.474000	0.27266	0.962000	0.63368	4.892000	0.63193	0.846000	0.35142	-0.136000	0.14681	GGA	NAPEPLD	-	NULL	ENSG00000161048		0.433	NAPEPLD-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NAPEPLD	HGNC	protein_coding	OTTHUMT00000347904.1		0	38	0	C	NM_198990		102760610	-1			no_errors	ENST00000455523	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.987	A	A	102760610	C	A	102760610	4	1	88	1	0	0	0	0	0	1	0	0	10201	603	21	3	838	3	NAPEPLD	7	102760610	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	2084119	102760610	56378053	83	25232											
MLL5	55904	genome.wustl.edu	37	chr7	104753227	104753228	+	Missense_Mutation	DNP	AC	AC	GA																															tcattctcaaactgctggacAccacttacccccacccccac																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A|C	A|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:104753227_104753228AC>GA	ENST00000311117.3	+	27	5569_5570	c.5024_5025AC>GA	c.(5023-5025)cAC>cGA	p.H1675R	KMT2E_ENST00000257745.4_Missense_Mutation_p.H1675R|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.H1633R	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1675	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ACTGCTGGACACCACTTACCCC	0.569																																																	0																																										SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	Exception_encountered	7.37:g.104753227_104753228delinsGA	ENSP00000312379:p.His1675Arg		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.H1675R|p.H1675Q	ENST00000311117.3	37	c.5024|c.5025	CCDS34723.1	7																																																																																			KMT2E	-	NULL	ENSG00000005483		0.569	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	76|77	0	A|C			104753227|104753228	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	25.61	61	21	SNP	0.994|0.989	G|A	GA	104753228	AC	GA	104753227	3	3	88	1	0	0	0	0	1	0	0	0	9662	159	6	4	5122	4	MLL5	7	104753227	Missense_Mutation	DNP	AC	TCGA-L5-A8NN-01A-11D-A37C-09	1992617	104753227	54385436	84	25233											
PIK3CG	5294	genome.wustl.edu	37	chr7	106509583	106509583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggacaattactgccaccCgatagccctgcctaagcatc	10	9	7	15	1	1	0	0	0	1	0	2	2	1	1	4	1	5	1	4	1	4	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:106509583C>T	ENST00000359195.3	+	2	1887	c.1577C>T	c.(1576-1578)cCg>cTg	p.P526L	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P526L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P526L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	526					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TACTGCCACCCGATAGCCCTG	0.532																																																	0													137	127	131					7																	106509583		2203	4300	6503	SO:0001583	missense	0				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"phosphoinositide-3-kinase, catalytic, gamma polypeptide"				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1577C>T	7.37:g.106509583C>T	ENSP00000352121:p.Pro526Leu		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P526L	ENST00000359195.3	37	c.1577	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372598	0.82573	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.65732	-0.17;-0.17;-0.17	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72471	0.3464	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.72030	-0.4413	10	0.59425	D	0.04	-19.9509	20.5407	0.99260	0.0:1.0:0.0:0.0	.	526	P48736	PK3CG_HUMAN	L	526	ENSP00000392258:P526L;ENSP00000419260:P526L;ENSP00000352121:P526L	ENSP00000352121:P526L	P	+	2	0	PIK3CG	106296819	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	7.770000	0.85390	2.865000	0.98341	0.655000	0.94253	CCG	PIK3CG	-	superfamily_ARM-type_fold	ENSG00000105851		0.532	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	-	0	37	0	C			106509583	1	tier1	-	no_errors	ENST00000359195	ensembl	human	known	74_37	missense	21.43	33	9	SNP	1.000	T	T	106509583	C	T	106509583	3	4	88	1	0	0	0	0	1	0	0	0	11955	652	23	1	1579	1	PIK3CG	7	106509583	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1756356	106509583	52629080	85	25234											
LRRN3	54674	genome.wustl.edu	37	chr7	110763330	110763330	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcctacataatcttcttCgacttcatctcaattcaaat	11	16	3	11	1	5	0	3	0	3	0	7	1	5	0	1	1	1	0	1	1	4	7			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:110763330C>T	ENST00000422987.3	+	2	1333	c.502C>T	c.(502-504)Cga>Tga	p.R168*	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Nonsense_Mutation_p.R168*|LRRN3_ENST00000308478.5_Nonsense_Mutation_p.R168*	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	168					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R168*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAATCTTCTTCGACTTCATCT	0.363																																																	1	Substitution - Nonsense(1)	NS(1)											74	78	77					7																	110763330		2203	4300	6503	SO:0001587	stop_gained	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.502C>T	7.37:g.110763330C>T	ENSP00000412417:p.Arg168*		O43377|Q6I9V8|Q8IYQ6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R168*	ENST00000422987.3	37	c.502	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	C	41	8.855641	0.98978	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	.	.	.	5.94	5.05	0.67936	.	0.000000	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.379	0.60757	0.4283:0.5717:0.0:0.0	.	.	.	.	X	168	.	ENSP00000312001:R168X	R	+	1	2	LRRN3	110550566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.330000	0.52068	1.491000	0.48482	0.650000	0.86243	CGA	LRRN3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000173114		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2		0	29	0	C	NM_018334		110763330	1			no_errors	ENST00000308478	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T	T	110763330	C	T	110763330	4	4	88	1	0	0	0	0	0	1	0	0	9071	876	31	1	504	1	LRRN3	7	110763330	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	4253747	110763330	48375333	86	25235											
LMOD2	442721	genome.wustl.edu	37	chr7	123302462	123302462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacatcaccaacgtaaaCgtcgagtccaacttcataac	15	7	6	13	3	2	0	2	0	0	0	4	2	3	0	2	0	5	2	2	0	5	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:123302462C>T	ENST00000458573.2	+	2	979	c.822C>T	c.(820-822)aaC>aaT	p.N274N	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	274						cytoskeleton (GO:0005856)											CCAACGTAAACGTCGAGTCCA	0.542																																																	0													87	86	86					7																	123302462		2165	4246	6411	SO:0001819	synonymous_variant	0			AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.822C>T	7.37:g.123302462C>T			A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	pfam_Tropomodulin,pfscan_WH2_dom	p.N274	ENST00000458573.2	37	c.822	CCDS47693.1	7																																																																																			LMOD2	-	NULL	ENSG00000170807		0.542	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD2	HGNC	protein_coding	OTTHUMT00000348525.1	-	0	58	0	C			123302462	1	tier1	-	no_errors	ENST00000458573	ensembl	human	known	74_37	silent	35.29	33	18	SNP	0.966	T	T	123302462	C	T	123302462	2	4	88	1	0	0	0	0	0	0	0	1	8887	535	19	1		1	LMOD2	7	123302462	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	12539132	123302462	35836201	87	25236											
AGAP3	116988	genome.wustl.edu	37	chr7	150819833	150819833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgtgccactgtttccaacTtttcatcaacaaaaaggcct	12	13	5	11	0	2	0	2	0	0	0	3	0	3	0	3	1	3	1	3	1	5	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:150819833T>C	ENST00000335367.3	+	9	1783	c.1690T>C	c.(1690-1692)Ttt>Ctt	p.F564L	AGAP3_ENST00000479901.1_Missense_Mutation_p.F331L|AGAP3_ENST00000463381.1_Intron|AGAP3_ENST00000397238.2_Intron|AGAP3_ENST00000473312.1_Missense_Mutation_p.F384L			Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTTTCCAACTTTTCATCAAC	0.502																																																	0													98	100	99					7																	150819833		1890	4129	6019	SO:0001583	missense	0			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16923	protein-coding gene	gene with protein product			"centaurin, gamma 3"	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000335367.3:c.1690T>C	7.37:g.150819833T>C	ENSP00000335589:p.Phe564Leu		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.F384L	ENST00000335367.3	37	c.1150		7	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930223	0.34096	.	.	ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000335367;ENST00000468796	D;T;D;T	0.85861	-1.86;1.61;-2.04;1.64	4.03	2.86	0.33363	.	.	.	.	.	T	0.67382	0.2887	N	0.08118	0	0.23975	N	0.996298	B;B;B	0.15141	0.001;0.012;0.001	B;B;B	0.15052	0.001;0.012;0.001	T	0.53704	-0.8401	9	0.20519	T	0.43	.	6.6667	0.23044	0.0:0.1133:0.0:0.8867	.	331;564;384	C9J975;E7ESL9;E9PAL8	.;.;.	L	384;331;564;165	ENSP00000418921:F384L;ENSP00000418125:F331L;ENSP00000335589:F564L;ENSP00000418159:F165L	ENSP00000335589:F564L	F	+	1	0	AGAP3	150450766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.225000	0.51246	1.595000	0.50050	0.379000	0.24179	TTT	AGAP3	-	NULL	ENSG00000133612		0.502	AGAP3-005	NOVEL	basic	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351912.1	-	0	96	0	T	NM_031946		150819833	1	tier1	-	no_errors	ENST00000473312	ensembl	human	known	74_37	missense	35.29	55	30	SNP	1.000	C	C	150819833	T	C	150819833	3	2	88	1	0	0	0	0	1	0	0	0	369	1609	56	4	1184	4	AGAP3	7	150819833	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	27517371	150819833	8318830	88	25237											
DPP6	1804	genome.wustl.edu	37	chr7	154595588	154595588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagcccaacagcagcaaCgacaacatccagtccatcac	14	6	5	16	1	2	0	2	0	0	0	4	1	4	0	3	0	6	2	3	0	3	1	rs202156140		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:154595588C>T	ENST00000377770.3	+	14	1563	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	DPP6_ENST00000332007.3_Silent_p.N412N|DPP6_ENST00000404039.1_Silent_p.N410N|DPP6_ENST00000427557.1_Silent_p.N367N			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	474					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACAGCAGCAACGACAACATCC	0.567																																					NSCLC(125;1384 1783 2490 7422 34254)												0								C	,,	3,4179		0,3,2088	72	76	75		876,795,795	-5	0.9	7		75	0,8438		0,0,4219	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	0,3,6307	TT,TC,CC		0.0,0.0717,0.0238	,,	292/684,265/657,265/657	154595588	3,12617	2091	4219	6310	SO:0001819	synonymous_variant	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1422C>T	7.37:g.154595588C>T				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.N474	ENST00000377770.3	37	c.1422		7																																																																																			DPP6	-	pfam_Peptidase_S9B	ENSG00000130226		0.567	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1		0	45	0	C	NM_130797		154595588	1			no_errors	ENST00000377770	ensembl	human	known	74_37	silent	9.52	37	4	SNP	0.697	T	T	154595588	C	T	154595588	2	4	88	1	0	0	0	0	0	0	0	1	4744	535	19	1		1	DPP6	7	154595588	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	3775755	154595588	4543075	89	25238											
PTPRN2	5799	genome.wustl.edu	37	chr7	157387999	157387999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgcggggttcctcgggtcGtgatccatctgcagagacaa	8	9	13	11	4	1	2	0	1	1	1	5	3	3	2	2	3	2	2	2	3	2	2	rs140246794	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr7:157387999G>A	ENST00000389418.4	-	17	2436	c.2427C>T	c.(2425-2427)caC>caT	p.H809H	PTPRN2_ENST00000409483.1_Silent_p.H771H|PTPRN2_ENST00000389413.3_Silent_p.H780H|PTPRN2_ENST00000389416.4_Silent_p.H792H|PTPRN2_ENST00000404321.2_Silent_p.H832H	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	809	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCCTCGGGTCGTGATCCATCT	0.542																																																	0									,,	0,4406		0,0,2203	55	60	59		2427,2376,2340	-8.5	0.8	7	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PTPRN2	NM_002847.3,NM_130842.2,NM_130843.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	809/1016,792/999,780/987	157387999	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2427C>T	7.37:g.157387999G>A			E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.H832	ENST00000389418.4	37	c.2496	CCDS5947.1	7																																																																																			PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000155093		0.542	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	-	0	43	0	G			157387999	-1	tier1	rs140246794	no_errors	ENST00000404321	ensembl	human	known	74_37	silent	34.48	38	20	SNP	0.900	A	A	157387999	G	A	157387999	2	1	88	1	0	0	0	0	0	0	0	1	12853	1136	40	1		1	PTPRN2	7	157387999	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	2792411	157387999	1750664	90	25239											
FNTA	2339	genome.wustl.edu	37	chr8	42919271	42919271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttatgattacttccgagCtgtcctgcagcgtgatgaaa	9	14	10	8	2	0	3	0	3	0	0	2	4	2	3	2	0	4	3	2	0	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:42919271C>T	ENST00000302279.3	+	3	508	c.314C>T	c.(313-315)gCt>gTt	p.A105V	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Missense_Mutation_p.A62V|FNTA_ENST00000342116.4_Intron	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	105					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TACTTCCGAGCTGTCCTGCAG	0.373																																																	0													191	180	184					8																	42919271		2203	4300	6503	SO:0001583	missense	0			L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"Prenyltransferase alpha subunit repeat containing"	3782	protein-coding gene	gene with protein product	"protein prenyltransferase alpha subunit repeat containing 2"	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.314C>T	8.37:g.42919271C>T	ENSP00000303423:p.Ala105Val		A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a	p.A105V	ENST00000302279.3	37	c.314	CCDS6140.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.254867	0.95336	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000531266;ENST00000533336	.	.	.	5.05	5.05	0.67936	Protein prenyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.80127	0.4566	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.94	T	0.83273	-0.0042	9	0.87932	D	0	-14.1958	15.8992	0.79359	0.0:1.0:0.0:0.0	.	14;105	A8MVX8;P49354	.;FNTA_HUMAN	V	62;105;87;43	.	ENSP00000303423:A105V	A	+	2	0	FNTA;RP11-598P20.5	43038428	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.565000	0.82337	2.335000	0.79485	0.555000	0.69702	GCT	FNTA	-	NULL	ENSG00000168522		0.373	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNTA	HGNC	protein_coding	OTTHUMT00000383178.1	-	0	60	0	C	NM_002027		42919271	1	tier1	-	no_errors	ENST00000302279	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	42919271	C	T	42919271	3	4	88	1	0	0	0	0	1	0	0	0	5999	797	28	3	324	3	FNTA	8	42919271	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		42919271	103444751	91	25240											
PREX2	80243	genome.wustl.edu	37	chr8	69021848	69021848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggagatgtgtgtttgtCaaatagatgagtaagtgttt	11	15	14	1	0	1	3	1	1	0	2	1	4	1	3	0	2	0	3	0	2	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:69021848C>G	ENST00000288368.4	+	25	3413	c.3136C>G	c.(3136-3138)Caa>Gaa	p.Q1046E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1046					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTGTGTTTGTCAAATAGATGA	0.348																																																	0													110	108	109					8																	69021848		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"Rho guanine nucleotide exchange factors"	22950	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 129"	612139	"DEP domain containing 2"	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3136C>G	8.37:g.69021848C>G	ENSP00000288368:p.Gln1046Glu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.Q1046E	ENST00000288368.4	37	c.3136	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019227	0.75275	.	.	ENSG00000046889	ENST00000288368	T	0.64438	-0.1	5.72	5.72	0.89469	.	.	.	.	.	T	0.64907	0.2641	L	0.52573	1.65	0.58432	D	0.999999	P	0.40376	0.715	B	0.42959	0.403	T	0.66948	-0.5794	9	0.62326	D	0.03	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	1046	Q70Z35	PREX2_HUMAN	E	1046	ENSP00000288368:Q1046E	ENSP00000288368:Q1046E	Q	+	1	0	PREX2	69184402	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.294000	0.78760	2.704000	0.92352	0.655000	0.94253	CAA	PREX2	-	NULL	ENSG00000046889		0.348	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0	30	0	C	NM_025170		69021848	1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	G	G	69021848	C	G	69021848	3	3	88	1	0	0	0	0	1	0	0	0	12519	827	29	5	3463	5	PREX2	8	69021848	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	26102577	69021848	77342174	92	25241											
RDH10	157506	genome.wustl.edu	37	chr8	74231402	74231402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacagttgcaagttccttGggattgttcagtactgccgg	7	13	13	8	1	1	1	1	1	0	0	2	2	2	2	2	2	3	5	2	2	2	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:74231402G>T	ENST00000240285.5	+	3	1275	c.597G>T	c.(595-597)ttG>ttT	p.L199F	RP11-434I12.2_ENST00000514599.1_RNA|RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.L34F	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	199					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CAAGTTCCTTGGGATTGTTCA	0.398																																																	0													246	222	230					8																	74231402		2203	4300	6503	SO:0001583	missense	0			AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	19975	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 16C, member 4"	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.597G>T	8.37:g.74231402G>T	ENSP00000240285:p.Leu199Phe			Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L199F	ENST00000240285.5	37	c.597	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458505	0.63401	.	.	ENSG00000121039	ENST00000240285;ENST00000521928;ENST00000519380	D;D;D	0.87650	-2.28;-2.28;-2.28	5.42	3.49	0.39957	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	N	0.20845	0.615	0.58432	D	0.999993	D	0.89917	1.0	D	0.79784	0.993	D	0.85591	0.1246	10	0.52906	T	0.07	.	8.5713	0.33572	0.157:0.1333:0.7097:0.0	.	199	Q8IZV5	RDH10_HUMAN	F	199;34;34	ENSP00000240285:L199F;ENSP00000429727:L34F;ENSP00000428132:L34F	ENSP00000240285:L199F	L	+	3	2	RDH10	74393956	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.937000	0.48979	1.523000	0.49018	0.650000	0.86243	TTG	RDH10	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH	ENSG00000121039		0.398	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	HGNC	protein_coding	OTTHUMT00000378982.1	-	0	90	0	G			74231402	1	tier1	-	no_errors	ENST00000240285	ensembl	human	known	74_37	missense	39.33	54	35	SNP	1.000	T	T	74231402	G	T	74231402	3	4	88	1	0	0	0	0	1	0	0	0	13234	1339	47	3	607	3	RDH10	8	74231402	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	5209554	74231402	72132620	93	25242											
EBAG9	9166	genome.wustl.edu	37	chr8	110569206	110569206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaattttggcatcccaGatgggagcacaggtttctct	9	13	10	9	0	1	2	0	1	1	1	3	3	2	3	1	3	1	3	1	3	1	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:110569206G>T	ENST00000337573.5	+	5	664	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	EBAG9_ENST00000395785.2_Missense_Mutation_p.D122Y|EBAG9_ENST00000531677.1_Missense_Mutation_p.D122Y|EBAG9_ENST00000529502.1_3'UTR	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	122					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.D122H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TGGCATCCCAGATGGGAGCAC	0.338																																																	1	Substitution - Missense(1)	cervix(1)											102	94	97					8																	110569206		2203	4299	6502	SO:0001583	missense	0			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.364G>T	8.37:g.110569206G>T	ENSP00000337675:p.Asp122Tyr		A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	pirsf_Cancer-assoc_antigen_RCAS1	p.D122Y	ENST00000337573.5	37	c.364	CCDS6313.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801463	0.90538	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.75	5.75	0.90469	.	0.040396	0.85682	D	0.000000	T	0.61236	0.2331	L	0.36672	1.1	0.80722	D	1	P	0.51537	0.946	P	0.50825	0.651	T	0.63116	-0.6709	9	0.72032	D	0.01	-2.6109	19.2924	0.94105	0.0:0.0:1.0:0.0	.	122	O00559	RCAS1_HUMAN	Y	122;25;122;122;122	.	ENSP00000337675:D122Y	D	+	1	0	EBAG9	110638382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.110000	0.94302	2.878000	0.98634	0.650000	0.86243	GAT	EBAG9	-	pirsf_Cancer-assoc_antigen_RCAS1	ENSG00000147654		0.338	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	HGNC	protein_coding	OTTHUMT00000383536.1	-	0	67	0	G	NM_004215		110569206	1	tier1	-	no_errors	ENST00000337573	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	110569206	G	T	110569206	3	4	88	1	0	0	0	0	1	0	0	0	4893	942	33	3	378	3	EBAG9	8	110569206	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	36337804	110569206	35794816	94	25243											
COL14A1	7373	genome.wustl.edu	37	chr8	121256240	121256240	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcgtctccgctcctggAaaaacctgtaagtgaagctt	10	10	10	11	2	2	1	1	1	1	0	4	2	3	2	3	1	3	3	3	1	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:121256240A>G	ENST00000297848.3	+	20	2742	c.2472A>G	c.(2470-2472)ggA>ggG	p.G824G	COL14A1_ENST00000309791.4_Silent_p.G824G|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.G729G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCGCTCCTGGAAAAACCTGTA	0.473																																																	0													98	103	101					8																	121256240		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2472A>G	8.37:g.121256240A>G				Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G824	ENST00000297848.3	37	c.2472	CCDS34938.1	8																																																																																			COL14A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	33	0	A	NM_021110		121256240	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	25.00	18	6	SNP	0.986	G	G	121256240	A	G	121256240	2	3	88	1	0	0	0	0	0	0	0	1	3678	233	9	4		4	COL14A1	8	121256240	Silent	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	10687034	121256240	25107782	95	25244											
FAM91A1	157769	genome.wustl.edu	37	chr8	124797873	124797873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatattcctttcagaatgCtgtttcaatgtattgccgat	9	19	6	7	1	2	1	2	0	0	1	3	2	3	1	2	0	2	3	2	0	5	8			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:124797873C>T	ENST00000334705.7	+	11	1100	c.854C>T	c.(853-855)gCt>gTt	p.A285V	FAM91A1_ENST00000521166.1_Missense_Mutation_p.A285V	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	285										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TTTCAGAATGCTGTTTCAATG	0.313																																																	0													80	73	75					8																	124797873		1820	4072	5892	SO:0001583	missense	0			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.854C>T	8.37:g.124797873C>T	ENSP00000335082:p.Ala285Val		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	NULL	p.A285V	ENST00000334705.7	37	c.854	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	C	35	5.426830	0.96131	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.66460	-0.21;0.32	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85786	0.1364	10	0.87932	D	0	.	19.765	0.96335	0.0:1.0:0.0:0.0	.	285;285	E7ER68;Q658Y4	.;F91A1_HUMAN	V	285	ENSP00000429491:A285V;ENSP00000335082:A285V	ENSP00000335082:A285V	A	+	2	0	FAM91A1	124867054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.733000	0.84916	2.748000	0.94277	0.552000	0.68991	GCT	FAM91A1	-	NULL	ENSG00000176853		0.313	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	-	0	49	0	C	NM_144963		124797873	1	tier1	-	no_errors	ENST00000334705	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	124797873	C	T	124797873	3	4	88	1	0	0	0	0	1	0	0	0	5673	797	28	3	896	3	FAM91A1	8	124797873	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	3541633	124797873	21566149	96	25245											
SCRIB	23513	genome.wustl.edu	37	chr8	144896032	144896033	+	Missense_Mutation	DNP	GC	GC	AA																															tccgcgatctccagagccttGcagaacttgatgctctccgg																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr8:144896032_144896033GC>AA	ENST00000320476.3	-	3	317_318	c.311_312GC>TT	c.(310-312)tGC>tTT	p.C104F	SCRIB_ENST00000377533.3_Missense_Mutation_p.C23F|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.C104F	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	104	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGAGCCTTGCAGAACTTGAT	0.634																																					Pancreas(51;966 1133 10533 14576 29674)												0																																										SO:0001583	missense	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.311_312delinsAA	8.37:g.144896032_144896033delinsAA	ENSP00000322938:p.Cys104Phe		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent|Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.C104|p.C104F	ENST00000320476.3	37	c.312|c.311	CCDS6411.1	8																																																																																			SCRIB	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000180900		0.634	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	-	0	91|93	0	G|C	NM_015356		144896032|144896033	-1	tier1	-	no_errors	ENST00000320476	ensembl	human	known	74_37	silent|missense	25.30	62	21	SNP	1.000	A	AA	144896033	GC	AA	144896032	3	1	88	1	0	0	0	0	1	0	0	0	13982	1311	46	3	4795	3	SCRIB	8	144896032	Missense_Mutation	DNP	GC	TCGA-L5-A8NN-01A-11D-A37C-09	20098159	144896032	1467990	97	25246											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974724	21974724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtgcgttgggcagcgcccCcgcctccagcagcgcccgca	4	4	14	19	6	0	0	0	0	0	0	1	0	1	0	5	2	4	4	5	2	0	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:21974724C>T	ENST00000304494.5	-	1	373	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G35R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G35R|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G35R|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	35			G -> A (in CMM2; also found in a biliary tract tumor and a patient with uveal melanoma; partial loss of CDK4 binding). {ECO:0000269|PubMed:8595405}.|G -> E (in CMM2). {ECO:0000269|PubMed:8595405}.|G -> V (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.L32_L37del(5)|p.G35R(2)|p.G35fs*13(1)|p.0(1)|p.V28_V51del(1)|p.E33fs*8(1)|p.A36fs*8(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCAGCGCCCCCGCCTCCAGC	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1350	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(6)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(147)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(54)|pleura(52)|upper_aerodigestive_tract(49)|ovary(35)|kidney(31)|pancreas(30)|breast(30)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											31	41	37					9																	21974724		2163	4242	6405	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.103G>A	9.37:g.21974724C>T	ENSP00000307101:p.Gly35Arg		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.G35R	ENST00000304494.5	37	c.103	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	37	6.516131	0.97629	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.81659	-1.52;-1.52	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.92557	0.7636	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94347	0.7576	9	0.87932	D	0	.	17.3226	0.87240	0.0:1.0:0.0:0.0	.	35;35	P42771;G3XAG3	CD2A1_HUMAN;.	R	35	ENSP00000307101:G35R;ENSP00000394932:G35R	ENSP00000307101:G35R	G	-	1	0	CDKN2A	21964724	0.850000	0.29656	0.821000	0.32701	0.929000	0.56500	2.935000	0.48963	2.681000	0.91329	0.655000	0.94253	GGG	CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000147889		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	46	0	C	NM_000077		21974724	-1			no_errors	ENST00000446177	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.998	T	T	21974724	C	T	21974724	3	4	88	1	0	0	0	0	1	0	0	0	3168	623	22	3	580	3	CDKN2A	9	21974724	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		21974724	119238707	98	25247											
OR2S2	56656	genome.wustl.edu	37	chr9	35957427	35957427	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcctcaggatggtggtGatgatgaagacataggagaa	13	8	16	4	0	1	5	1	3	0	2	2	8	2	7	1	5	0	0	1	5	3	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:35957427G>T	ENST00000341959.2	-	1	724	c.669C>A	c.(667-669)atC>atA	p.I223I		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	223					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GGATGGTGGTGATGATGAAGA	0.512																																					Pancreas(172;293 2036 17878 24427 30946)												0													94	100	98					9																	35957427		2203	4300	6503	SO:0001819	synonymous_variant	0			AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"GPCR / Class A : Olfactory receptors"	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.669C>A	9.37:g.35957427G>T			Q2M3L0|Q6IF19|Q96R42	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I223	ENST00000341959.2	37	c.669	CCDS6596.2	9																																																																																			OR2S2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000122718		0.512	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2S2	HGNC	protein_coding	OTTHUMT00000052400.2		0	26	0	G	NM_019897		35957427	-1			no_errors	ENST00000341959	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.000	T	T	35957427	G	T	35957427	2	4	88	1	0	0	0	0	0	0	0	1	11054	1280	45	3		3	OR2S2	9	35957427	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	13982703	35957427	105256004	99	25248											
C9orf156	51531	genome.wustl.edu	37	chr9	100684711	100684711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttacctgtctccagaGccggcttaacgcagccgcac	9	7	11	14	3	1	1	0	0	1	1	2	2	1	2	4	2	4	4	4	2	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:100684711G>A	ENST00000375119.3	-	1	141	c.65C>T	c.(64-66)gCt>gTt	p.A22V	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	22					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TGTCTCCAGAGCCGGCTTAAC	0.642											OREG0019350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													31	28	29					9																	100684711		2199	4291	6490	SO:0001583	missense	0			AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"Nef (lentivirus myristoylated factor) associated protein 1"						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.65C>T	9.37:g.100684711G>A	ENSP00000364260:p.Ala22Val	1353	Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066	p.A22V	ENST00000375119.3	37	c.65	CCDS6730.1	9	.	.	.	.	.	.	.	.	.	.	g	11.46	1.644737	0.29246	.	.	ENSG00000136932	ENST00000375119;ENST00000375117;ENST00000455506	T;T;T	0.54071	1.6;0.64;0.59	4.32	3.42	0.39159	.	0.351261	0.26072	N	0.026516	T	0.36331	0.0963	L	0.27053	0.805	0.47584	D	0.999469	B	0.27853	0.191	B	0.23275	0.045	T	0.20840	-1.0263	10	0.44086	T	0.13	-2.4514	9.859	0.41103	0.0:0.0:0.7954:0.2046	.	22	Q9BU70	NAP1_HUMAN	V	22;21;20	ENSP00000364260:A22V;ENSP00000364258:A21V;ENSP00000408473:A20V	ENSP00000364258:A21V	A	-	2	0	C9orf156	99724532	0.926000	0.31397	0.391000	0.26233	0.194000	0.23727	1.844000	0.39269	1.181000	0.42912	-0.196000	0.12772	GCT	C9orf156	-	NULL	ENSG00000136932		0.642	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf156	HGNC	protein_coding	OTTHUMT00000055401.1	-	0	153	0	G	NM_016481		100684711	-1	tier1	-	no_errors	ENST00000375119	ensembl	human	known	74_37	missense	63.57	46	82	SNP	0.579	A	A	100684711	G	A	100684711	3	1	88	1	0	0	0	0	1	0	0	0	2472	971	34	3	1280	3	C9orf156	9	100684711	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	64727284	100684711	40528720	100	25249											
PALM2	114299	genome.wustl.edu	37	chr9	112694236	112694236	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attacatttcctcccagcttCccgacctgccaatcctctgt	7	13	4	17	1	1	0	0	0	1	0	5	1	5	0	6	0	3	1	6	0	2	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:112694236C>T	ENST00000374531.2	+	6	474				PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P142S|PALM2_ENST00000448454.2_Missense_Mutation_p.P144S|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P142S|PALM2_ENST00000314527.4_Missense_Mutation_p.P142S|AKAP2_ENST00000555236.1_Missense_Mutation_p.P142S|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000510514.5_Missense_Mutation_p.P142S	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CTCCCAGCTTCCCGACCTGCC	0.547																																																	0													149	145	147					9																	112694236		2203	4300	6503	SO:0001627	intron_variant	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6874C>T	9.37:g.112694236C>T			A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.P142S	ENST00000374531.2	37	c.424	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534417	0.64972	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T	0.35421	2.35;2.35;1.31;1.93;2.35;1.94;1.93;1.94	6.17	5.27	0.74061	.	0.113193	0.35179	N	0.003382	T	0.33089	0.0851	L	0.36672	1.1	0.34909	D	0.747334	B;B;B	0.24426	0.103;0.103;0.001	B;B;B	0.26202	0.067;0.067;0.008	T	0.44314	-0.9336	10	0.87932	D	0	-13.1088	15.1224	0.72453	0.0:0.932:0.0:0.068	.	142;142;144	Q9Y2D5-6;Q9Y2D5-4;D3YTA4	.;.;.	S	144;142;128;142;142;142;142;142	ENSP00000400206:P144S;ENSP00000323805:P142S;ENSP00000419747:P128S;ENSP00000363654:P142S;ENSP00000397839:P142S;ENSP00000305861:P142S;ENSP00000451476:P142S;ENSP00000421522:P142S	ENSP00000305861:P142S	P	+	1	0	PALM2-AKAP2;PALM2;AKAP2	111734057	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.574000	0.53863	1.596000	0.50062	0.655000	0.94253	CCC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.547	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000053604.1	-	0	38	0	C	NM_001037293		112694236	1	tier1	-	no_errors	ENST00000374530	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	T	T	112694236	C	T	112694236	1	4	88	0	1	0	0	0	0	0	0	0	11448	855	30	3		3	PALM2	9	112694236	Intron	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	12009525	112694236	28519195	101	25250											
DBC1	1620	genome.wustl.edu	37	chr9	122075482	122075482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaaggataggtagctcctgGagtggtggaaaggccccctg	10	7	15	9	0	0	0	0	0	0	0	1	3	1	3	3	6	1	2	3	6	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:122075482G>T	ENST00000265922.3	-	2	613	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	BRINP1_ENST00000373964.2_Missense_Mutation_p.S51Y	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	51					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.S51Y(1)									GTAGCTCCTGGAGTGGTGGAA	0.483																																																	1	Substitution - Missense(1)	lung(1)											99	96	97					9																	122075482		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.152C>A	9.37:g.122075482G>T	ENSP00000265922:p.Ser51Tyr		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.S51Y	ENST00000265922.3	37	c.152	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299644	0.60195	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.86865	-2.18;-2.18	5.26	5.26	0.73747	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.92159	0.7514	L	0.55990	1.75	0.80722	D	1	D;D	0.67145	0.994;0.996	D;D	0.77557	0.983;0.99	D	0.92846	0.6293	10	0.87932	D	0	-20.1299	18.859	0.92265	0.0:0.0:1.0:0.0	.	51;51	O60477-2;O60477	.;DBC1_HUMAN	Y	51	ENSP00000265922:S51Y;ENSP00000363075:S51Y	ENSP00000265922:S51Y	S	-	2	0	DBC1	121115303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.473000	0.83533	0.561000	0.74099	TCC	BRINP1	-	pfam_MACPF	ENSG00000078725		0.483	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2		0	47	0	G	NM_014618		122075482	-1			no_errors	ENST00000265922	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	122075482	G	T	122075482	3	4	88	1	0	0	0	0	1	0	0	0	4256	1174	41	3	2161	3	DBC1	9	122075482	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	9381246	122075482	19137949	102	25251											
OR1Q1	158131	genome.wustl.edu	37	chr9	125377488	125377488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaccttcatgccatgCtgcatacctttctcataggc	7	13	5	16	0	3	0	2	0	2	0	5	0	3	0	4	1	4	2	4	1	2	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:125377488C>A	ENST00000297913.2	+	1	541	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	158					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						TCATGCCATGCTGCATACCTT	0.493																																																	0													196	167	176					9																	125377488		2203	4300	6503	SO:0001583	missense	0				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"GPCR / Class A : Olfactory receptors"	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.472C>A	9.37:g.125377488C>A	ENSP00000297913:p.Leu158Met		Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L158M	ENST00000297913.2	37	c.472	CCDS35125.1	9	.	.	.	.	.	.	.	.	.	.	C	9.132	1.011737	0.19277	.	.	ENSG00000165202	ENST00000297913	T	0.39997	1.05	5.58	0.158	0.14942	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001523	T	0.49898	0.1584	L	0.57130	1.785	0.09310	N	1	D	0.71674	0.998	D	0.74348	0.983	T	0.34104	-0.9842	10	0.66056	D	0.02	-0.2113	3.2411	0.06780	0.2925:0.366:0.0:0.3415	.	158	Q15612	OR1Q1_HUMAN	M	158	ENSP00000297913:L158M	ENSP00000297913:L158M	L	+	1	2	OR1Q1	124417309	0.000000	0.05858	0.250000	0.24296	0.082000	0.17680	-1.012000	0.03649	0.122000	0.18314	0.655000	0.94253	CTG	OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165202		0.493	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1		0	29	0	C			125377488	1			no_errors	ENST00000297913	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.001	A	A	125377488	C	A	125377488	3	1	88	1	0	0	0	0	1	0	0	0	11010	796	28	3	474	3	OR1Q1	9	125377488	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	3302006	125377488	15835943	103	25252											
SEC16A	9919	genome.wustl.edu	37	chr9	139369857	139369857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaggggccagaaggacGttgcctccaaaatctggcag	10	6	14	11	1	1	1	0	0	1	1	2	2	2	2	3	4	2	4	3	4	3	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr9:139369857G>A	ENST00000371706.3	-	1	1710	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	SEC16A_ENST00000290037.6_Silent_p.N559N|SEC16A_ENST00000313050.7_Silent_p.N737N|SEC16A_ENST00000431893.2_Silent_p.N559N			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	559					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCAGAAGGACGTTGCCTCCAA	0.612																																																	0													33	39	37					9																	139369857		2018	4158	6176	SO:0001819	synonymous_variant	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"KIAA0310"	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.1677C>T	9.37:g.139369857G>A			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.N737	ENST00000371706.3	37	c.2211		9																																																																																			SEC16A	-	NULL	ENSG00000148396		0.612	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1		0	24	0	G	XM_088459		139369857	-1			no_errors	ENST00000313050	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.994	A	A	139369857	G	A	139369857	2	1	88	1	0	0	0	0	0	0	0	1	14031	1136	40	1		1	SEC16A	9	139369857	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	13992369	139369857	1843574	104	25253											
USP6NL	9712	genome.wustl.edu	37	chr10	11504478	11504478	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatggaaagcccgtcccGattcctgtagtggtaggctg	7	11	14	9	2	0	0	0	0	0	0	2	3	2	2	3	4	1	3	3	4	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:11504478G>T	ENST00000609104.1	-	15	2843	c.2449C>A	c.(2449-2451)Cgg>Agg	p.R817R	USP6NL_ENST00000277575.5_Silent_p.R834R|USP6NL_ENST00000379237.2_Silent_p.R840R	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	817					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R834W(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCCCGTCCCGATTCCTGTAG	0.507																																																	1	Substitution - Missense(1)	prostate(1)											57	62	61					10																	11504478		2013	4166	6179	SO:0001819	synonymous_variant	0			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"related to the N terminus of tre"	605405	"USP6NL intronic transcript 1 (non-protein coding)"	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2449C>A	10.37:g.11504478G>T			A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R840	ENST00000609104.1	37	c.2518	CCDS53492.1	10																																																																																			USP6NL	-	NULL	ENSG00000148429		0.507	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3		0	55	0	G	NM_014688		11504478	-1			no_errors	ENST00000379237	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.409	T	T	11504478	G	T	11504478	2	4	88	1	0	0	0	0	0	0	0	1	17136	1057	37	2		2	USP6NL	10	11504478	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		11504478	124030269	105	25254											
SLC39A12	221074	genome.wustl.edu	37	chr10	18267003	18267003	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagtttcctgggatcaGgtattgccattgtttctctt	5	17	10	9	0	2	0	1	0	1	0	5	1	4	1	3	3	1	3	3	3	1	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:18267003G>T	ENST00000377369.2	+	5	1197	c.924G>T	c.(922-924)caG>caT	p.Q308H	SLC39A12_ENST00000539911.1_Splice_Site_p.Q174H|SLC39A12_ENST00000377374.4_Splice_Site_p.Q308H|SLC39A12_ENST00000377371.3_Splice_Site_p.Q308H	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	308					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCTGGGATCAGGTATTGCCAT	0.368																																																	0													66	66	66					10																	18267003		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.924+1G>T	10.37:g.18267003G>T			B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.Q308H	ENST00000377369.2	37	c.924	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072006	0.36566	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.63580	0.1;-0.05;0.11;0.0	4.72	4.72	0.59763	.	1.458410	0.04119	N	0.315961	T	0.80954	0.4723	M	0.74881	2.28	0.45718	D	0.998627	D;P;B	0.76494	0.999;0.696;0.204	D;B;B	0.71414	0.973;0.338;0.076	T	0.66964	-0.5790	10	0.38643	T	0.18	-4.3525	14.8805	0.70528	0.0:0.0:1.0:0.0	.	308;308;308	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	H	308;308;308;174;228	ENSP00000366586:Q308H;ENSP00000366591:Q308H;ENSP00000366588:Q308H;ENSP00000440445:Q174H	ENSP00000366586:Q308H	Q	+	3	2	SLC39A12	18307009	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	4.711000	0.61881	2.618000	0.88619	0.650000	0.86243	CAG	SLC39A12	-	NULL	ENSG00000148482		0.368	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	58	0	G	NM_152725	Missense_Mutation	18267003	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	18267003	G	T	18267003	5	4	88	1	0	0	0	0	0	0	1	0	14660	1014	35	3	938	3	SLC39A12	10	18267003	Splice_Site	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	6762525	18267003	117267744	106	25255											
JMJD1C	221037	genome.wustl.edu	37	chr10	64968032	64968032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaatgaagtcagagtttgagGattagctgctgccgctgcaa	12	10	12	7	1	1	3	1	2	0	1	1	4	1	4	1	1	4	5	1	1	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:64968032G>C	ENST00000399262.2	-	10	3615	c.3397C>G	c.(3397-3399)Cct>Gct	p.P1133A	JMJD1C_ENST00000542921.1_Missense_Mutation_p.P951A|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P914A|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P914A	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1133					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGAGTTTGAGGATTAGCTGCT	0.403																																																	0													170	163	165					10																	64968032		1937	4130	6067	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3397C>G	10.37:g.64968032G>C	ENSP00000382204:p.Pro1133Ala		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P1133A	ENST00000399262.2	37	c.3397	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	11.28	1.593548	0.28357	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.54479	0.92;0.57;2.48;0.92	5.59	4.69	0.59074	.	0.224175	0.39687	N	0.001281	T	0.42653	0.1212	L	0.51422	1.61	0.42707	D	0.993633	B;B;B	0.28378	0.129;0.209;0.129	B;B;B	0.25140	0.033;0.058;0.03	T	0.29458	-1.0011	10	0.23302	T	0.38	-8.9907	8.9069	0.35530	0.2227:0.0:0.7773:0.0	.	674;1133;951	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	A	1133;914;914;951	ENSP00000382204:P1133A;ENSP00000384990:P914A;ENSP00000382195:P914A;ENSP00000444682:P951A	ENSP00000382195:P914A	P	-	1	0	JMJD1C	64638038	0.998000	0.40836	0.999000	0.59377	0.953000	0.61014	1.988000	0.40697	1.360000	0.45960	0.563000	0.77884	CCT	JMJD1C	-	NULL	ENSG00000171988		0.403	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	-	0	26	0	G	NM_004241		64968032	-1	tier1	-	no_errors	ENST00000399262	ensembl	human	known	74_37	missense	64.71	12	22	SNP	1.000	C	C	64968032	G	C	64968032	3	2	88	1	0	0	0	0	1	0	0	0	7977	1174	41	5	4293	5	JMJD1C	10	64968032	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	46701029	64968032	70566715	107	25256											
MYST4	23522	genome.wustl.edu	37	chr10	76602862	76602862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctgggcgcttttcatcaGttaaaccaggcacttttcct	8	13	7	13	1	2	0	2	0	0	0	3	0	3	0	3	2	1	3	3	2	2	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:76602862G>T	ENST00000287239.4	+	3	736	c.247G>T	c.(247-249)Gtt>Ttt	p.V83F	KAT6B_ENST00000372725.1_Missense_Mutation_p.V83F|KAT6B_ENST00000372714.1_Missense_Mutation_p.V83F|KAT6B_ENST00000372724.1_Missense_Mutation_p.V83F|KAT6B_ENST00000372711.1_Missense_Mutation_p.V83F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	83					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTTTTCATCAGTTAAACCAGG	0.463																																																	0													102	105	104					10																	76602862		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.247G>T	10.37:g.76602862G>T	ENSP00000287239:p.Val83Phe		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V83F	ENST00000287239.4	37	c.247	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	G	9.905	1.207920	0.22205	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77489	-1.08;-1.08;-1.1;-1.08;-1.1	6.17	5.26	0.73747	.	0.179356	0.26627	N	0.023321	T	0.61776	0.2374	N	0.12182	0.205	0.28302	N	0.923052	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.14578	0.011;0.011;0.005	T	0.45862	-0.9232	10	0.19590	T	0.45	-9.2014	15.8758	0.79159	0.0652:0.0:0.9348:0.0	.	83;83;83	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	F	83	ENSP00000361810:V83F;ENSP00000361809:V83F;ENSP00000287239:V83F;ENSP00000361799:V83F;ENSP00000361796:V83F	ENSP00000287239:V83F	V	+	1	0	KAT6B	76272868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.666000	0.46799	2.941000	0.99782	0.655000	0.94253	GTT	KAT6B	-	NULL	ENSG00000156650		0.463	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	-	0	64	0	G	NM_012330		76602862	1	tier1	-	no_errors	ENST00000287239	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T	T	76602862	G	T	76602862	3	4	88	1	0	0	0	0	1	0	0	0	10143	1029	36	3	249	3	MYST4	10	76602862	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	11634830	76602862	58931885	108	25257											
LIPF	8513	genome.wustl.edu	37	chr10	90438384	90438384	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttatctgggcaatggatgcCcctcaagaagtttacaatga	12	12	9	8	0	2	2	1	1	1	1	2	3	2	3	2	2	2	2	2	2	6	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:90438384C>G	ENST00000238983.4	+	10	1189	c.1143C>G	c.(1141-1143)gcC>gcG	p.A381A	LIPF_ENST00000355843.2_Silent_p.A358A|LIPF_ENST00000608620.1_Silent_p.A348A|LIPF_ENST00000394375.3_Silent_p.A391A	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	381					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CAATGGATGCCCCTCAAGAAG	0.348																																																	0													73	76	75					10																	90438384		2203	4300	6503	SO:0001819	synonymous_variant	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1143C>G	10.37:g.90438384C>G			B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Silent	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.A391	ENST00000238983.4	37	c.1173	CCDS7389.1	10																																																																																			LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.348	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1		0	86	0	C			90438384	1			no_errors	ENST00000394375	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.537	G	G	90438384	C	G	90438384	2	3	88	1	0	0	0	0	0	0	0	1	8852	610	22	5		5	LIPF	10	90438384	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	13835522	90438384	45096363	109	25258											
BTAF1	9044	genome.wustl.edu	37	chr10	93778666	93778666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacatgatattcaacatGcccctaagctctcagctttg	10	13	5	13	0	3	1	2	1	2	0	4	1	3	1	2	0	5	2	2	0	4	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:93778666G>A	ENST00000265990.6	+	34	5145	c.4837G>A	c.(4837-4839)Gcc>Acc	p.A1613T	BTAF1_ENST00000544642.1_Missense_Mutation_p.A441T	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1613					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATTCAACATGCCCCTAAGCT	0.373																																																	0													147	138	141					10																	93778666		2203	4300	6503	SO:0001583	missense	0			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"Mot1 homolog (S. cerevisiae)"	605191	"BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.4837G>A	10.37:g.93778666G>A	ENSP00000265990:p.Ala1613Thr		B4E0W6|O43578	Missense_Mutation	SNP	pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A1613T	ENST00000265990.6	37	c.4837	CCDS7419.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.719235	0.96839	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75367	-0.93;-0.93	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.90309	3.105	0.80722	D	1	D	0.67145	0.996	P	0.57620	0.824	D	0.89704	0.3907	10	0.87932	D	0	-9.1631	19.7838	0.96428	0.0:0.0:1.0:0.0	.	1613	O14981	BTAF1_HUMAN	T	1613;441;463	ENSP00000265990:A1613T;ENSP00000439924:A441T	ENSP00000265990:A1613T	A	+	1	0	BTAF1	93768646	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.827000	0.99397	2.666000	0.90696	0.557000	0.71058	GCC	BTAF1	-	superfamily_P-loop_NTPase	ENSG00000095564		0.373	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTAF1	HGNC	protein_coding	OTTHUMT00000049380.4	-	0	52	0	G	NM_003972		93778666	1	tier1	-	no_errors	ENST00000265990	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	93778666	G	A	93778666	3	1	88	1	0	0	0	0	1	0	0	0	1540	1319	46	3	4971	3	BTAF1	10	93778666	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	3340282	93778666	41756081	110	25259											
SLC18A2	6571	genome.wustl.edu	37	chr10	119017399	119017399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgttcccgaaagtggcaGctgggtaaggactggggtgg	8	9	18	6	1	0	0	0	0	0	0	1	2	1	1	1	6	1	4	1	6	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:119017399G>T	ENST00000298472.5	+	10	1130	c.987G>T	c.(985-987)caG>caT	p.Q329H	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	329					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAAGTGGCAGCTGGGTAAGG	0.577																																																	0													65	58	60					10																	119017399		2203	4300	6503	SO:0001583	missense	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.987G>T	10.37:g.119017399G>T	ENSP00000298472:p.Gln329His		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q329H	ENST00000298472.5	37	c.987	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741493	0.49151	.	.	ENSG00000165646	ENST00000298472	T	0.59224	0.28	5.94	4.1	0.47936	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.116604	0.64402	D	0.000013	T	0.66147	0.2760	M	0.89534	3.04	0.49582	D	0.999805	B	0.23249	0.082	B	0.36608	0.229	T	0.62793	-0.6779	10	0.19590	T	0.45	-15.2239	10.4493	0.44513	0.2396:0.0:0.7604:0.0	.	329	Q05940	VMAT2_HUMAN	H	329	ENSP00000298472:Q329H	ENSP00000298472:Q329H	Q	+	3	2	SLC18A2	119007389	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	1.326000	0.33735	1.541000	0.49316	0.644000	0.83932	CAG	SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000165646		0.577	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	-	0	62	0	G	NM_003054		119017399	1	tier1	-	no_errors	ENST00000298472	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	119017399	G	T	119017399	3	4	88	1	0	0	0	0	1	0	0	0	14471	962	34	3	1021	3	SLC18A2	10	119017399	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	25238733	119017399	16517348	111	25260											
CHST15	51363	genome.wustl.edu	37	chr10	125771863	125771863	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctaggttcagaaacTggaagaccttgtgcatggtg	11	11	11	8	0	2	2	2	0	0	2	2	3	2	3	2	3	3	2	2	3	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:125771863T>A	ENST00000346248.5	-	7	2123	c.1481A>T	c.(1480-1482)cAg>cTg	p.Q494L	CHST15_ENST00000435907.1_Missense_Mutation_p.Q494L	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	494					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTTCAGAAACTGGAAGACCTT	0.507																																																	0													148	107	121					10																	125771863		2203	4300	6503	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"Sulfotransferases, membrane-bound"	18137	protein-coding gene	gene with protein product	"B cell RAG associated protein", "N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1481A>T	10.37:g.125771863T>A	ENSP00000333947:p.Gln494Leu		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Q494L	ENST00000346248.5	37	c.1481	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480566	0.44044	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	D;D	0.82711	-1.64;-1.64	5.25	2.9	0.33743	Sulfotransferase domain (1);	0.423696	0.26503	N	0.024009	T	0.73575	0.3604	L	0.38175	1.15	0.80722	D	1	B	0.19706	0.038	B	0.23852	0.049	T	0.65311	-0.6199	10	0.54805	T	0.06	-13.1988	7.3193	0.26517	0.0:0.2591:0.0:0.7409	.	494	Q7LFX5	CHSTF_HUMAN	L	494	ENSP00000333947:Q494L;ENSP00000402394:Q494L	ENSP00000333947:Q494L	Q	-	2	0	CHST15	125761853	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	2.804000	0.47931	0.315000	0.23110	0.533000	0.62120	CAG	CHST15	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000182022		0.507	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1		0	51	0	T	NM_015892		125771863	-1			no_errors	ENST00000346248	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.999	A	A	125771863	T	A	125771863	3	1	88	1	0	0	0	0	1	0	0	0	3410	1580	55	5	212	5	CHST15	10	125771863	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	6754464	125771863	9762884	112	25261											
ECHS1	1892	genome.wustl.edu	37	chr10	135183459	135183459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgacctgggtgaggtgGtcccagtgcttcaagaactt	7	13	12	9	0	2	3	1	2	1	1	3	3	3	3	2	3	2	1	2	3	2	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr10:135183459G>T	ENST00000368547.3	-	3	718	c.363C>A	c.(361-363)gaC>gaA	p.D121E	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	121				D -> G (in Ref. 1; BAA03001). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GGGTGAGGTGGTCCCAGTGCT	0.527																																					GBM(132;1720 1771 5373 10277 21402)												0													189	155	166					10																	135183459		2203	4300	6503	SO:0001583	missense	0				CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.363C>A	10.37:g.135183459G>T	ENSP00000357535:p.Asp121Glu		O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	pfam_Crotonase_core_superfam	p.D121E	ENST00000368547.3	37	c.363	CCDS7681.1	10	.	.	.	.	.	.	.	.	.	.	G	4.227	0.040970	0.08196	.	.	ENSG00000127884	ENST00000368547	T	0.66460	-0.21	5.9	3.04	0.35103	Crotonase, core (1);	0.088382	0.85682	D	0.000000	T	0.40145	0.1105	N	0.11284	0.12	0.38879	D	0.956867	B	0.02656	0.0	B	0.04013	0.001	T	0.19516	-1.0303	10	0.08179	T	0.78	.	8.9302	0.35666	0.2409:0.0:0.7591:0.0	.	121	P30084	ECHM_HUMAN	E	121	ENSP00000357535:D121E	ENSP00000357535:D121E	D	-	3	2	ECHS1	135033449	0.999000	0.42202	0.807000	0.32361	0.076000	0.17211	2.213000	0.42844	0.837000	0.34925	0.555000	0.69702	GAC	ECHS1	-	pfam_Crotonase_core_superfam	ENSG00000127884		0.527	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHS1	HGNC	protein_coding	OTTHUMT00000051156.1	-	0	58	0	G			135183459	-1	tier1	-	no_errors	ENST00000368547	ensembl	human	known	74_37	missense	10.00	45	5	SNP	0.971	T	T	135183459	G	T	135183459	3	4	88	1	0	0	0	0	1	0	0	0	4910	1252	44	3	533	3	ECHS1	10	135183459	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	9411596	135183459	351288	113	25262											
RIC8A	60626	genome.wustl.edu	37	chr11	209475	209475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccgtgtcatctggctGcagagtgtccgaatcctgtc	6	11	10	14	2	2	1	1	0	1	1	6	2	5	1	4	1	1	2	4	1	1	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:209475G>A	ENST00000526104.1	+	3	1545	c.201G>A	c.(199-201)ctG>ctA	p.L67L	RIC8A_ENST00000527696.1_Silent_p.L61L|BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.L67L|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000529614.2_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TCATCTGGCTGCAGAGTGTCC	0.642																																																	0													81	77	79					11																	209475		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.201G>A	11.37:g.209475G>A			Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.L67	ENST00000526104.1	37	c.201		11																																																																																			RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold	ENSG00000177963		0.642	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1		0	84	0	G	NM_021932		209475	1			no_errors	ENST00000325207	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	A	A	209475	G	A	209475	2	1	88	1	0	0	0	0	0	0	0	1	13400	1306	46	3		3	RIC8A	11	209475	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		209475	134797041	114	25263											
MUC5B	727897	genome.wustl.edu	37	chr11	1247459	1247459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgacgtcctcgcccacccGgcgcgtgagctttgttccac	4	8	10	19	6	0	1	0	1	0	0	3	2	2	1	5	1	1	2	5	1	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:1247459G>A	ENST00000529681.1	+	3	210	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	MUC5B_ENST00000447027.1_Missense_Mutation_p.R51Q	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	51			R -> W (in dbSNP:rs2075853).		cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGCCCACCCGGCGCGTGAGC	0.672																																																	0													21	27	25					11																	1247459		1952	4063	6015	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.152G>A	11.37:g.1247459G>A	ENSP00000436812:p.Arg51Gln		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.R51Q	ENST00000529681.1	37	c.152	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327926	0.24080	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18960	2.18;2.36	3.24	0.275	0.15659	.	.	.	.	.	T	0.14270	0.0345	L	0.52573	1.65	0.09310	N	1	B;P;P	0.35011	0.01;0.48;0.48	B;B;B	0.18561	0.002;0.013;0.022	T	0.17501	-1.0367	9	0.87932	D	0	.	5.11	0.14804	0.4158:0.0:0.5842:0.0	.	51;677;51	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	Q	51;51;51;54	ENSP00000436812:R51Q;ENSP00000415793:R51Q	ENSP00000343037:R51Q	R	+	2	0	MUC5B	1204035	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.073000	0.03430	0.220000	0.20860	0.561000	0.74099	CGG	MUC5B	-	NULL	ENSG00000117983		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	202	0	G	XM_001126093		1247459	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	33.89	119	61	SNP	0.001	A	A	1247459	G	A	1247459	3	1	88	1	0	0	0	0	1	0	0	0	10017	1116	39	1	162	1	MUC5B	11	1247459	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	1037984	1247459	133759057	115	25264											
UBQLN3	50613	genome.wustl.edu	37	chr11	5530201	5530201	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggatcagctgctgcatAtgggggttgtcaagaaccag	9	10	14	8	0	2	1	2	0	0	1	2	2	2	2	1	3	5	5	1	3	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:5530201A>T	ENST00000311659.4	-	2	735	c.588T>A	c.(586-588)caT>caA	p.H196Q	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	196										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGCTGCATATGGGGGTTGT	0.517																																					Ovarian(72;684 1260 12332 41642 52180)												0													103	105	104					11																	5530201		2201	4297	6498	SO:0001583	missense	0			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"Ubiquilin family"	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.588T>A	11.37:g.5530201A>T	ENSP00000347997:p.His196Gln		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.H196Q	ENST00000311659.4	37	c.588	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	A	4.791	0.146987	0.09134	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.38077	1.89;1.16	5.77	-5.31	0.02730	Heat shock chaperonin-binding (1);	0.137353	0.33180	N	0.005196	T	0.12518	0.0304	N	0.13352	0.335	0.30596	N	0.760996	B	0.09022	0.002	B	0.08055	0.003	T	0.42015	-0.9476	10	0.02654	T	1	-35.2827	7.8666	0.29541	0.1607:0.1176:0.6063:0.1154	.	196	Q9H347	UBQL3_HUMAN	Q	196	ENSP00000347997:H196Q;ENSP00000412561:H196Q	ENSP00000347997:H196Q	H	-	3	2	UBQLN3	5486777	0.978000	0.34361	0.845000	0.33349	0.981000	0.71138	0.278000	0.18753	-0.783000	0.04534	0.477000	0.44152	CAT	UBQLN3	-	superfamily_ARM-type_fold,smart_STI1_HS-bd	ENSG00000175520		0.517	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0	75	0	A	NM_017481		5530201	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	40.28	43	29	SNP	0.956	T	T	5530201	A	T	5530201	3	4	88	1	0	0	0	0	1	0	0	0	16947	446	16	5	1383	5	UBQLN3	11	5530201	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	4282742	5530201	129476315	116	25265											
OR56A3	390083	genome.wustl.edu	37	chr11	5969255	5969255	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctacaccttcattctgCgagctgtgctgagactcaag	8	12	8	13	1	4	1	2	1	2	1	5	3	4	1	2	0	4	2	2	0	2	3	rs188845678		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:5969255C>T	ENST00000329564.6	+	1	686	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCATTCTGCGAGCTGTGCT	0.517													C|||	1	0.000199681	0	0	5008	,	,		22092	0.001		0	False		,,,				2504	0																1	Substitution - Nonsense(1)	lung(1)											192	189	190					11																	5969255		2183	4282	6465	SO:0001587	stop_gained	0				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.679C>T	11.37:g.5969255C>T	ENSP00000331572:p.Arg227*		A6NN77|Q6IFF7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R227*	ENST00000329564.6	37	c.679	CCDS41614.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.135	0.023296	0.08006	.	.	ENSG00000184478	ENST00000329564	.	.	.	5.13	-8.28	0.01013	.	0.149992	0.30762	N	0.008933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0633	22.6536	0.99974	0.7951:0.2048:0.0:0.0	.	.	.	.	X	227	.	ENSP00000331572:R227X	R	+	1	2	OR56A3	5925831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.223000	0.00023	-1.903000	0.01093	-2.727000	0.00130	CGA	OR56A3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184478		0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	HGNC	protein_coding	OTTHUMT00000383753.1		0	45	0	C	NM_001003443		5969255	1			no_errors	ENST00000329564	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.000	T	T	5969255	C	T	5969255	4	4	88	1	0	0	0	0	0	1	0	0	11173	760	27	1	681	1	OR56A3	11	5969255	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	439054	5969255	129037261	117	25266											
NAV2	89797	genome.wustl.edu	37	chr11	20099124	20099124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggcagcctttgaacaGagtcttggtaacatgacaat	11	12	10	8	0	1	3	0	2	1	1	1	3	1	3	1	2	3	2	1	2	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:20099124G>T	ENST00000396087.3	+	25	5277	c.5178G>T	c.(5176-5178)caG>caT	p.Q1726H	NAV2_ENST00000311043.8_Missense_Mutation_p.Q734H|NAV2_ENST00000396085.1_Missense_Mutation_p.Q1670H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q1670H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q1606H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q1655H|NAV2_ENST00000533917.1_Missense_Mutation_p.Q734H|NAV2_ENST00000540292.1_Missense_Mutation_p.Q1657H	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1726					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTTTGAACAGAGTCTTGGTA	0.473																																																	0													92	83	86					11																	20099124		2203	4300	6503	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5178G>T	11.37:g.20099124G>T	ENSP00000379396:p.Gln1726His		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q1726H	ENST00000396087.3	37	c.5178	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	G	27.5	4.833109	0.91036	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;D;D;D;D;D;T;T;T	0.94280	-1.19;-3.39;-3.39;-3.39;-3.39;-3.39;-1.19;-1.19;-1.19	5.74	4.82	0.62117	.	0.000000	0.64402	D	0.000007	D	0.95875	0.8657	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.999;0.999;0.998;0.998;0.999	D;D;D;D;D;D	0.85130	0.947;0.997;0.997;0.996;0.976;0.997	D	0.94961	0.8108	9	.	.	.	.	15.6957	0.77494	0.0687:0.0:0.9313:0.0	.	1670;1726;734;719;1670;1606	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	H	1606;1670;1670;1726;1655;1657;734;719;734;719	ENSP00000353871:Q1606H;ENSP00000379394:Q1670H;ENSP00000309577:Q1670H;ENSP00000379396:Q1726H;ENSP00000435395:Q1655H;ENSP00000443489:Q1657H;ENSP00000437316:Q734H;ENSP00000437136:Q719H;ENSP00000312169:Q734H	.	Q	+	3	2	NAV2	20055700	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.874000	0.87199	2.873000	0.98535	0.563000	0.77884	CAG	NAV2	-	NULL	ENSG00000166833		0.473	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	74	0	G	NM_145117		20099124	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	6.25	59	4	SNP	1.000	T	T	20099124	G	T	20099124	3	4	88	1	0	0	0	0	1	0	0	0	10222	933	33	3	5209	3	NAV2	11	20099124	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	14129869	20099124	114907392	118	25267											
ANO5	203859	genome.wustl.edu	37	chr11	22279255	22279255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacatgcctctatacacGcgtattccatggtactttct	8	15	5	13	2	2	0	0	0	2	0	3	0	3	0	3	1	4	2	3	1	5	7			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:22279255G>A	ENST00000324559.8	+	14	1679	c.1362G>A	c.(1360-1362)acG>acA	p.T454T		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	454					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCTATACACGCGTATTCCAT	0.373																																																	0													163	153	156					11																	22279255		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	27337	protein-coding gene	gene with protein product		608662	"transmembrane protein 16E", "limb girdle muscular dystrophy 2L (autosomal recessive)"	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1362G>A	11.37:g.22279255G>A				Silent	SNP	pfam_Anoctamin	p.T454	ENST00000324559.8	37	c.1362	CCDS31444.1	11																																																																																			ANO5	-	pfam_Anoctamin	ENSG00000171714		0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	HGNC	protein_coding	OTTHUMT00000387615.1	-	0	69	0	G	NM_213599		22279255	1	tier1	-	no_errors	ENST00000324559	ensembl	human	known	74_37	silent	26.60	69	25	SNP	0.038	A	A	22279255	G	A	22279255	2	1	88	1	0	0	0	0	0	0	0	1	700	1074	38	1		1	ANO5	11	22279255	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	2180131	22279255	112727261	119	25268											
MYBPC3	4607	genome.wustl.edu	37	chr11	47353666	47353666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgtgcctcgccctgtaaGttggtggccctgcagacata	7	9	11	14	2	0	1	0	0	0	1	1	1	0	1	4	2	2	3	4	2	2	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:47353666G>A	ENST00000545968.1	-	33	3825	c.3771C>T	c.(3769-3771)aaC>aaT	p.N1257N	MYBPC3_ENST00000256993.4_Silent_p.N1256N|MYBPC3_ENST00000399249.2_Silent_p.N1257N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1257	Ig-like C2-type 7.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CGCCCTGTAAGTTGGTGGCCC	0.647																																																	0													40	44	43					11																	47353666		2000	4155	6155	SO:0001819	synonymous_variant	0			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7551	protein-coding gene	gene with protein product		600958	"myosin-binding protein C, cardiac"	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3771C>T	11.37:g.47353666G>A			A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N1257	ENST00000545968.1	37	c.3771	CCDS53621.1	11																																																																																			MYBPC3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134571		0.647	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	-	0	22	0	G			47353666	-1	tier1	-	no_errors	ENST00000399249	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.711	A	A	47353666	G	A	47353666	2	1	88	1	0	0	0	0	0	0	0	1	10051	1020	36	3		3	MYBPC3	11	47353666	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	25074411	47353666	87652850	120	25269											
PTPRJ	5795	genome.wustl.edu	37	chr11	48152120	48152120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcatatcacacaggaGggagctggcaattctcgggt	11	8	13	9	1	2	1	1	0	1	1	3	3	2	3	0	4	2	3	0	4	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:48152120G>T	ENST00000418331.2	+	8	1819	c.1467G>T	c.(1465-1467)gaG>gaT	p.E489D	PTPRJ_ENST00000440289.2_Missense_Mutation_p.E489D	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	489	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCACACAGGAGGGAGCTGGCA	0.463																																																	0													99	90	93					11																	48152120		2201	4298	6499	SO:0001583	missense	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1467G>T	11.37:g.48152120G>T	ENSP00000400010:p.Glu489Asp		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E489D	ENST00000418331.2	37	c.1467	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	9.887	1.203300	0.22121	.	.	ENSG00000149177	ENST00000418331;ENST00000440289	T;T	0.53640	0.61;0.61	5.61	-11.2	0.00127	Fibronectin, type III (3);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17704	0.0425	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.15206	-1.0445	9	0.07990	T	0.79	.	1.0878	0.01656	0.3426:0.2282:0.2867:0.1425	.	489;489	Q12913;Q6P4H4	PTPRJ_HUMAN;.	D	489	ENSP00000400010:E489D;ENSP00000409733:E489D	ENSP00000400010:E489D	E	+	3	2	PTPRJ	48108696	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.581000	0.00906	-1.374000	0.02131	-0.294000	0.09567	GAG	PTPRJ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149177		0.463	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1		0	44	0	G			48152120	1			no_errors	ENST00000418331	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T	T	48152120	G	T	48152120	3	4	88	1	0	0	0	0	1	0	0	0	12849	991	35	3	1497	3	PTPRJ	11	48152120	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	798454	48152120	86854396	121	25270											
OR4A16	81327	genome.wustl.edu	37	chr11	55110804	55110804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggtgggaaacctcctcaTttgggtgactactattggca	10	12	11	8	0	1	1	1	1	0	0	2	2	2	2	2	4	2	1	2	4	4	4	rs202202418	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:55110804T>C	ENST00000314721.2	+	1	178	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AACCTCCTCATTTGGGTGACT	0.433													.|||	49	0.00978435	0.0151	0.0101	5008	,	,		21155	0		0.0149	False		,,,				2504	0.0072																0													122	115	118					11																	55110804		2201	4296	6497	SO:0001583	missense	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.128T>C	11.37:g.55110804T>C	ENSP00000325128:p.Ile43Thr		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I43T	ENST00000314721.2	37	c.128	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	t	0.551	-0.849540	0.02651	.	.	ENSG00000181961	ENST00000314721	T	0.00531	6.76	2.41	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00637	0.0021	M	0.75615	2.305	0.09310	N	1	P	0.35714	0.517	B	0.37833	0.259	T	0.40979	-0.9534	9	0.59425	D	0.04	.	5.5955	0.17325	0.0:0.1526:0.0:0.8474	.	43	Q8NH70	O4A16_HUMAN	T	43	ENSP00000325128:I43T	ENSP00000325128:I43T	I	+	2	0	OR4A16	54867380	0.089000	0.21612	0.272000	0.24630	0.028000	0.11728	2.908000	0.48750	0.180000	0.19960	0.155000	0.16302	ATT	OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181961		0.433	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1		0	56	0	T	NM_001005274		55110804	1			no_errors	ENST00000314721	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.248	C	C	55110804	T	C	55110804	3	2	88	1	0	0	0	0	1	0	0	0	11080	1493	52	4	130	4	OR4A16	11	55110804	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	6958684	55110804	79895712	122	25271											
OR4P4	81300	genome.wustl.edu	37	chr11	55406658	55406658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccttttttataccatCattgctcccatgttcaaccc	7	17	3	14	0	2	0	2	0	0	0	3	0	3	0	4	0	4	2	4	0	3	7			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:55406658C>A	ENST00000314612.2	+	1	825	c.825C>A	c.(823-825)atC>atA	p.I275I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	275						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTTATACCATCATTGCTCCCA	0.398																																																	0													162	139	147					11																	55406658		2178	4024	6202	SO:0001819	synonymous_variant	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"GPCR / Class A : Olfactory receptors"	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.825C>A	11.37:g.55406658C>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I275	ENST00000314612.2	37	c.825	CCDS31504.1	11																																																																																			OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181927		0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1	-	0	37	0	C	NM_001004124		55406658	1	tier1	-	no_errors	ENST00000314612	ensembl	human	known	74_37	silent	25.58	32	11	SNP	0.009	A	A	55406658	C	A	55406658	2	1	88	1	0	0	0	0	0	0	0	1	11119	816	29	3		3	OR4P4	11	55406658	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	295854	55406658	79599858	123	25272											
CTNND1	1500	genome.wustl.edu	37	chr11	57575738	57575738	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctcagctggagctatcCagaacttgtgtgctgggcgc	8	9	13	11	1	1	1	1	0	0	1	2	2	2	2	2	2	5	3	2	2	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:57575738C>T	ENST00000399050.4	+	13	2601	c.2065C>T	c.(2065-2067)Cag>Tag	p.Q689*	CTNND1_ENST00000531014.1_Nonsense_Mutation_p.Q360*|CTNND1_ENST00000399039.4_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000532844.1_Nonsense_Mutation_p.Q635*|CTNND1_ENST00000524630.1_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000529919.1_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000528621.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000533667.1_Nonsense_Mutation_p.Q360*|CTNND1_ENST00000415361.2_Nonsense_Mutation_p.Q588*|CTNND1_ENST00000525902.1_Nonsense_Mutation_p.Q366*|CTNND1_ENST00000529526.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000534579.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000358694.6_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000530748.1_Nonsense_Mutation_p.Q635*|CTNND1_ENST00000530094.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000361796.4_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000428599.2_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000526357.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000426142.2_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000532245.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000532463.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000526772.1_Nonsense_Mutation_p.Q360*|CTNND1_ENST00000526938.1_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000532649.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000529986.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000360682.6_Nonsense_Mutation_p.Q689*|CTNND1_ENST00000361332.4_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000529873.1_Nonsense_Mutation_p.Q629*|CTNND1_ENST00000532787.1_Nonsense_Mutation_p.Q582*|CTNND1_ENST00000528232.1_Nonsense_Mutation_p.Q588*|CTNND1_ENST00000361391.6_Nonsense_Mutation_p.Q683*|CTNND1_ENST00000527467.1_Nonsense_Mutation_p.Q366*	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	689					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGGAGCTATCCAGAACTTGTG	0.453																																																	0													81	73	76					11																	57575738		1890	4110	6000	SO:0001587	stop_gained	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2065C>T	11.37:g.57575738C>T	ENSP00000382004:p.Gln689*		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q689*	ENST00000399050.4	37	c.2065	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	43	10.307563	0.99380	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1814	18.5534	0.91073	0.0:1.0:0.0:0.0	.	.	.	.	X	683;689;689;689;683;629;582;689;683;683;582;582;683;582;360;629;629;635;683;366;588;360;360;629;366;635;629;582;588;582;629;689	.	ENSP00000351527:Q683X	Q	+	1	0	CTNND1	57332314	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.445000	0.80570	2.566000	0.86566	0.460000	0.39030	CAG	CTNND1	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000198561		0.453	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0	57	0	C	NM_001331		57575738	1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	nonsense	28.33	43	17	SNP	1.000	T	T	57575738	C	T	57575738	4	4	88	1	0	0	0	0	0	1	0	0	4028	595	21	3	2107	3	CTNND1	11	57575738	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	2169080	57575738	77430778	124	25273											
CDCA5	113130	genome.wustl.edu	37	chr11	64847073	64847073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagccggctgtaggaacGcctgactttcttagacattt	8	12	9	12	2	1	2	0	1	1	1	2	3	2	3	3	2	2	2	3	2	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:64847073G>A	ENST00000275517.3	-	5	602	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	CDCA5_ENST00000404147.3_Missense_Mutation_p.R144C	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	144					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTGTAGGAACGCCTGACTTTC	0.632																																																	0													29	31	30					11																	64847073		2200	4297	6497	SO:0001583	missense	0			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"sororin"	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.430C>T	11.37:g.64847073G>A	ENSP00000275517:p.Arg144Cys		A8K625	Missense_Mutation	SNP	pfam_Sororin	p.R144C	ENST00000275517.3	37	c.430	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131791	0.77662	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.50277	0.75;0.75	5.55	3.67	0.42095	.	0.107102	0.64402	D	0.000004	T	0.64918	0.2642	M	0.73598	2.24	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.65446	-0.6166	10	0.87932	D	0	.	8.931	0.35670	0.0788:0.0:0.7732:0.148	.	144	Q96FF9	CDCA5_HUMAN	C	144	ENSP00000275517:R144C;ENSP00000385711:R144C	ENSP00000275517:R144C	R	-	1	0	CDCA5	64603649	0.998000	0.40836	0.913000	0.36048	0.945000	0.59286	3.718000	0.54919	0.687000	0.31509	0.650000	0.86243	CGT	CDCA5	-	pfam_Sororin	ENSG00000146670		0.632	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	-	0	41	0	G	NM_080668		64847073	-1	tier1	-	no_errors	ENST00000275517	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.993	A	A	64847073	G	A	64847073	3	1	88	1	0	0	0	0	1	0	0	0	3096	1087	38	1	336	1	CDCA5	11	64847073	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	7271335	64847073	70159443	125	25274											
INTS4	92105	genome.wustl.edu	37	chr11	77702183	77702183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttccaagagaatcctgaCtactccctctacgctttccg	9	12	6	14	2	1	2	0	1	1	1	5	3	5	2	4	0	2	2	4	0	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:77702183C>T	ENST00000534064.1	-	2	251	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	INTS4_ENST00000529807.1_Missense_Mutation_p.V73I|INTS4_ENST00000527522.1_Missense_Mutation_p.V73I	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	73					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGAATCCTGACTACTCCCTCT	0.443																																																	0													123	116	118					11																	77702183		2200	4292	6492	SO:0001583	missense	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.217G>A	11.37:g.77702183C>T	ENSP00000434466:p.Val73Ile		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.V73I	ENST00000534064.1	37	c.217	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216130	0.79352	.	.	ENSG00000149262	ENST00000534064;ENST00000529807;ENST00000527522	T;T	0.64438	-0.1;1.45	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.203205	0.41500	D	0.000877	T	0.54078	0.1836	L	0.28458	0.855	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.46911	-0.9157	10	0.45353	T	0.12	-10.5504	19.3872	0.94563	0.0:1.0:0.0:0.0	.	73	Q96HW7	INT4_HUMAN	I	73	ENSP00000434466:V73I;ENSP00000433644:V73I	ENSP00000407787:V73I	V	-	1	0	INTS4	77379831	0.997000	0.39634	0.999000	0.59377	0.999000	0.98932	3.334000	0.52097	2.815000	0.96918	0.643000	0.83706	GTC	INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.443	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	-	0	76	0	C	NM_033547		77702183	-1	tier1	-	no_errors	ENST00000534064	ensembl	human	known	74_37	missense	39.77	53	35	SNP	0.998	T	T	77702183	C	T	77702183	3	4	88	1	0	0	0	0	1	0	0	0	7807	565	20	3	2762	3	INTS4	11	77702183	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	12855110	77702183	57304333	126	25275											
BIRC2	329	genome.wustl.edu	37	chr11	102233653	102233653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcttgatacgaatgaaagGccaagagtttgttgatgaga	13	12	12	4	1	1	5	0	4	1	2	1	7	1	5	1	1	1	3	1	1	4	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:102233653G>A	ENST00000227758.2	+	4	2421	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	BIRC2_ENST00000532672.1_Missense_Mutation_p.G320D|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.G292D	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	341					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		CGAATGAAAGGCCAAGAGTTT	0.274																																																	0													89	93	92					11																	102233653		2202	4299	6501	SO:0001583	missense	0			L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	590	protein-coding gene	gene with protein product	"NFR2-TRAF signalling complex protein", "apoptosis inhibitor 1"	601712	"baculoviral IAP repeat-containing 2"	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1022G>A	11.37:g.102233653G>A	ENSP00000227758:p.Gly341Asp		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.G341D	ENST00000227758.2	37	c.1022	CCDS8316.1	11	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624519	0.46840	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672	T;T;T;T	0.26373	3.67;1.74;3.67;3.67	5.31	4.36	0.52297	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65492	-0.6155	10	0.87932	D	0	-22.9788	14.2722	0.66157	0.0:0.0:0.8507:0.1493	.	341	Q13490	BIRC2_HUMAN	D	292;3;341;341;320	ENSP00000431723:G292D;ENSP00000433851:G3D;ENSP00000227758:G341D;ENSP00000434979:G320D	ENSP00000227758:G341D	G	+	2	0	BIRC2	101738863	1.000000	0.71417	0.951000	0.38953	0.013000	0.08279	5.579000	0.67457	2.491000	0.84063	0.561000	0.74099	GGC	BIRC2	-	NULL	ENSG00000110330		0.274	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIRC2	HGNC	protein_coding	OTTHUMT00000394170.1	-	0	31	0	G	NM_001166		102233653	1	tier1	-	no_errors	ENST00000227758	ensembl	human	known	74_37	missense	31.43	24	11	SNP	0.982	A	A	102233653	G	A	102233653	3	1	88	1	0	0	0	0	1	0	0	0	1437	1203	42	3	1032	3	BIRC2	11	102233653	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	24531470	102233653	32772863	127	25276											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103027166	103027166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatcagagaagctttacGtgaacttgatctttggggag	12	12	11	6	1	2	3	1	2	1	1	2	5	2	4	0	2	4	1	0	2	5	5	rs200635842		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:103027166G>A	ENST00000375735.2	+	26	3938	c.3794G>A	c.(3793-3795)cGt>cAt	p.R1265H	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R1265H|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1265	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAGCTTTACGTGAACTTGAT	0.333																																																	0													60	61	60					11																	103027166		1846	4094	5940	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3794G>A	11.37:g.103027166G>A	ENSP00000364887:p.Arg1265His		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1265H	ENST00000375735.2	37	c.3794	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871071	0.51695	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.61980	0.06;0.06	5.27	5.27	0.74061	Dynein heavy chain, domain-2 (1);	0.395446	0.21027	N	0.081405	T	0.55242	0.1908	L	0.37697	1.125	0.58432	D	0.999998	B;B	0.24426	0.078;0.103	B;B	0.18871	0.023;0.021	T	0.50775	-0.8788	10	0.38643	T	0.18	.	18.8855	0.92376	0.0:0.0:1.0:0.0	.	1265;1265	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	H	1265	ENSP00000364887:R1265H;ENSP00000381167:R1265H	ENSP00000364887:R1265H	R	+	2	0	DYNC2H1	102532376	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.188000	0.94921	2.472000	0.83506	0.563000	0.77884	CGT	DYNC2H1	-	pfam_Dynein_heavy_dom-2	ENSG00000187240		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	54	0	G	XM_370652		103027166	1	tier1	rs200635842	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	A	A	103027166	G	A	103027166	3	1	88	1	0	0	0	0	1	0	0	0	4860	1145	40	1	3896	1	DYNC2H1	11	103027166	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	793513	103027166	31979350	128	25277											
ARHGAP20	57569	genome.wustl.edu	37	chr11	110501395	110501395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcattgaataggaaaagatgCcgctcctgcctctggaggcc	10	9	11	11	1	2	2	1	1	1	1	3	4	3	4	4	3	2	1	4	3	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:110501395C>T	ENST00000260283.4	-	4	593	c.309G>A	c.(307-309)cgG>cgA	p.R103R	ARHGAP20_ENST00000528829.1_Silent_p.R67R|ARHGAP20_ENST00000357139.3_Silent_p.R77R|ARHGAP20_ENST00000533353.1_Silent_p.R77R|ARHGAP20_ENST00000527598.1_Silent_p.R67R|ARHGAP20_ENST00000524756.1_Silent_p.R80R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	103	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.R103R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGAAAAGATGCCGCTCCTGCC	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											84	88	87					11																	110501395		2201	4298	6499	SO:0001819	synonymous_variant	0			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"Rho GTPase activating proteins"	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.309G>A	11.37:g.110501395C>T			A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom	p.R103	ENST00000260283.4	37	c.309	CCDS31673.1	11																																																																																			ARHGAP20	-	smart_Pleckstrin_homology	ENSG00000137727		0.398	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP20	HGNC	protein_coding	OTTHUMT00000390628.1		0	46	0	C	NM_020809		110501395	-1			no_errors	ENST00000260283	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.635	T	T	110501395	C	T	110501395	2	4	88	1	0	0	0	0	0	0	0	1	870	726	26	3		3	ARHGAP20	11	110501395	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	7474229	110501395	24505121	129	25278											
HYOU1	10525	genome.wustl.edu	37	chr11	118918724	118918724	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgttcgggccacttcttGcgctcctctacccgaaaaaa	9	9	8	15	4	2	0	0	0	2	0	4	1	3	0	4	1	3	2	4	1	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:118918724G>C	ENST00000404233.3	-	21	2569	c.2445C>G	c.(2443-2445)cgC>cgG	p.R815R	RP11-110I1.6_ENST00000531886.1_RNA|HYOU1_ENST00000525859.1_Silent_p.R753R|HYOU1_ENST00000529972.1_Silent_p.R753R	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	815					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCCACTTCTTGCGCTCCTCTA	0.557																																																	0													86	81	82					11																	118918724		2200	4295	6495	SO:0001819	synonymous_variant	0			U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"Heat shock proteins / HSP70"	16931	protein-coding gene	gene with protein product	"glucose-regulated protein 170"	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2445C>G	11.37:g.118918724G>C			A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R815	ENST00000404233.3	37	c.2445	CCDS8408.1	11																																																																																			HYOU1	-	NULL	ENSG00000149428		0.557	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HYOU1	HGNC	protein_coding	OTTHUMT00000389353.1	-	0	78	0	G	NM_006389		118918724	-1	tier1	-	no_errors	ENST00000404233	ensembl	human	known	74_37	silent	13.64	57	9	SNP	1.000	C	C	118918724	G	C	118918724	2	2	88	1	0	0	0	0	0	0	0	1	7497	1306	46	5		5	HYOU1	11	118918724	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	8417329	118918724	16087792	130	25279											
NCAPD3	23310	genome.wustl.edu	37	chr11	134074826	134074826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcagtaagatacggaCgactgggaatatactctcct	11	10	11	9	2	1	1	0	0	1	1	2	4	1	3	1	2	4	3	1	2	5	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr11:134074826C>T	ENST00000534548.2	-	9	1121	c.1057G>A	c.(1057-1059)Gtc>Atc	p.V353I		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	353					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAGATACGGACGACTGGGAAT	0.398																																																	0													144	143	143					11																	134074826		2201	4297	6498	SO:0001583	missense	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1057G>A	11.37:g.134074826C>T	ENSP00000433681:p.Val353Ile		A6NFS2|Q4KMQ9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.V353I	ENST00000534548.2	37	c.1057	CCDS31723.1	11	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958507	0.18507	.	.	ENSG00000151503	ENST00000534548	T	0.04654	3.58	5.54	4.63	0.57726	Armadillo-type fold (1);	0.062175	0.64402	D	0.000003	T	0.02929	0.0087	N	0.08118	0	0.80722	D	1	B	0.19445	0.036	B	0.06405	0.002	T	0.52305	-0.8593	10	0.33940	T	0.23	-14.2826	10.7852	0.46401	0.0712:0.134:0.7948:0.0	.	353	P42695	CNDD3_HUMAN	I	353	ENSP00000433681:V353I	ENSP00000431612:V353I	V	-	1	0	NCAPD3	133580036	1.000000	0.71417	0.851000	0.33527	0.145000	0.21501	3.481000	0.53179	1.347000	0.45714	-0.234000	0.12200	GTC	NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.398	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2	-	0	28	0	C	NM_015261		134074826	-1	tier1	-	no_errors	ENST00000534548	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.965	T	T	134074826	C	T	134074826	3	4	88	1	0	0	0	0	1	0	0	0	10245	536	19	1	3547	1	NCAPD3	11	134074826	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	15156102	134074826	931690	131	25280											
KDM5A	5927	genome.wustl.edu	37	chr12	404831	404831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtccagagatacttccaGgagatctccaaccatcataa	13	9	6	13	1	2	2	1	0	1	2	6	4	4	2	4	1	2	0	4	1	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:404831G>T	ENST00000399788.2	-	26	4725	c.4363C>A	c.(4363-4365)Ctg>Atg	p.L1455M	KDM5A_ENST00000540838.1_5'Flank|KDM5A_ENST00000382815.4_Missense_Mutation_p.L1455M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1455					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GATACTTCCAGGAGATCTCCA	0.507			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"lysine (K)-specific demethylase 5A, JARID1A"		L	0													190	181	184					12																	404831		1901	4132	6033	SO:0001583	missense	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	9886	protein-coding gene	gene with protein product		180202	"retinoblastoma-binding protein 2", "Jumonji, AT rich interactive domain 1A (RBBP2-like)", "jumonji, AT rich interactive domain 1A"	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.4363C>A	12.37:g.404831G>T	ENSP00000382688:p.Leu1455Met		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L1455M	ENST00000399788.2	37	c.4363	CCDS41736.1	12	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392637	0.62066	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.94576	-3.42;-3.46	5.42	1.59	0.23543	.	0.143329	0.48286	D	0.000187	D	0.96207	0.8763	M	0.75085	2.285	0.37001	D	0.895285	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	D	0.95688	0.8738	10	0.72032	D	0.01	-10.1317	10.1337	0.42693	0.27:0.0:0.73:0.0	.	1455;1455	P29375;P29375-2	KDM5A_HUMAN;.	M	1455	ENSP00000382688:L1455M;ENSP00000372265:L1455M	ENSP00000372265:L1455M	L	-	1	2	KDM5A	275092	1.000000	0.71417	0.851000	0.33527	0.825000	0.46686	3.200000	0.51051	0.090000	0.17273	-0.258000	0.10820	CTG	KDM5A	-	NULL	ENSG00000073614		0.507	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1	-	0	71	0	G	NM_005056		404831	-1	tier1	-	no_errors	ENST00000399788	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	404831	G	T	404831	3	4	88	1	0	0	0	0	1	0	0	0	8160	991	35	3	721	3	KDM5A	12	404831	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		404831	133447064	132	25281											
VWF	7450	genome.wustl.edu	37	chr12	6080796	6080796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactgggagtccccccgcGgtgagccagtcaccacctca	9	5	11	16	2	2	2	2	1	0	1	3	3	3	3	6	2	1	0	6	2	1	0	rs181094101		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:6080796G>A	ENST00000261405.5	-	44	7771	c.7517C>T	c.(7516-7518)cCg>cTg	p.P2506L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2506					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTCCCCCCGCGGTGAGCCAGT	0.612													G|||	1	0.000199681	8e-04	0	5008	,	,		17559	0		0	False		,,,				2504	0																0													82	78	79					12																	6080796		2203	4300	6503	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7517C>T	12.37:g.6080796G>A	ENSP00000261405:p.Pro2506Leu		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P2506L	ENST00000261405.5	37	c.7517	CCDS8539.1	12	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.354	-0.943321	0.02322	.	.	ENSG00000110799	ENST00000261405	T	0.34859	1.34	4.79	-2.02	0.07388	.	0.866135	0.09662	N	0.772377	T	0.22085	0.0532	L	0.52364	1.645	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33929	-0.9849	10	0.08179	T	0.78	.	1.9377	0.03340	0.2339:0.2428:0.3994:0.1239	.	2506	P04275	VWF_HUMAN	L	2506	ENSP00000261405:P2506L	ENSP00000261405:P2506L	P	-	2	0	VWF	5951057	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.627000	0.05521	-0.041000	0.13558	-0.264000	0.10439	CCG	VWF	-	pirsf_VWF	ENSG00000110799		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1		0	38	0	G	NM_000552		6080796	-1			no_errors	ENST00000261405	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.000	A	A	6080796	G	A	6080796	3	1	88	1	0	0	0	0	1	0	0	0	17295	1116	39	1	960	1	VWF	12	6080796	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	5675965	6080796	127771099	133	25282											
PZP	5858	genome.wustl.edu	37	chr12	9305470	9305470	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggctttgtgtccatcgcaAgtttggggcacagtctgcac	6	12	13	10	1	1	0	0	0	1	0	3	0	2	0	1	3	1	5	1	3	1	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:9305470A>C	ENST00000261336.2	-	31	4099	c.4071T>G	c.(4069-4071)acT>acG	p.T1357T	PZP_ENST00000381997.2_Silent_p.T1143T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1357					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCCATCGCAAGTTTGGGGCA	0.438																																					Melanoma(125;1402 1695 4685 34487 38571)												0													141	129	133					12																	9305470		2203	4300	6503	SO:0001819	synonymous_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4071T>G	12.37:g.9305470A>C			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.T1357	ENST00000261336.2	37	c.4071	CCDS8600.1	12																																																																																			PZP	-	superfamily_A-macroglobulin_rcpt-bd	ENSG00000126838		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	-	0	64	0	A	NM_002864		9305470	-1	tier1	-	no_errors	ENST00000261336	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.876	C	C	9305470	A	C	9305470	2	2	88	1	0	0	0	0	0	0	0	1	12914	59	3	4		4	PZP	12	9305470	Silent	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	3224674	9305470	124546425	134	25283											
TAS2R7	50837	genome.wustl.edu	37	chr12	10954756	10954756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataaacacagagagaacCacgcaccccagtagaatcca	18	4	6	13	1	0	3	0	0	0	3	1	4	1	3	4	0	2	2	4	0	6	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:10954756C>T	ENST00000240687.2	-	1	470	c.414G>A	c.(412-414)gtG>gtA	p.V138V		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	138					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CAGAGAGAACCACGCACCCCA	0.408																																																	0													84	78	80					12																	10954756		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.414G>A	12.37:g.10954756C>T			Q645Y1	Silent	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.V138	ENST00000240687.2	37	c.414	CCDS8631.1	12																																																																																			TAS2R7	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121377		0.408	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	-	0	50	0	C			10954756	-1	tier1	-	no_errors	ENST00000240687	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.002	T	T	10954756	C	T	10954756	2	4	88	1	0	0	0	0	0	0	0	1	15633	581	21	3		3	TAS2R7	12	10954756	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1649286	10954756	122897139	135	25284											
ARID2	196528	genome.wustl.edu	37	chr12	46211623	46211623	+	Frame_Shift_Del	DEL	C	C	-																															tcatgcaacttgaaaaagatCctaaaatcatcactttacta																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:46211623delC	ENST00000334344.6	+	5	761	c.589delC	c.(589-591)cctfs	p.P197fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.P48fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	197					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGAAAAAGATCCTAAAATCAT	0.348			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													77	69	72					12																	46211623		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.589delC	12.37:g.46211623delC	ENSP00000335044:p.Pro197fs		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P197fs	ENST00000334344.6	37	c.589	CCDS31783.1	12																																																																																			ARID2	-	NULL	ENSG00000189079		0.348	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2		0	27	0	C	XM_350875		46211623	1	tier1		no_errors	ENST00000334344	ensembl	human	known	74_37	frame_shift_del	79.17	5	19	DEL	1.000	-	-	46211623	C	-	46211623	7	5	88	1	0	1	0	1	0	0	0	0	915	855	30	0	607	0	ARID2	12	46211623	Frame_Shift_Del	DEL	C	TCGA-L5-A8NN-01A-11D-A37C-09	35256867	46211623	87640272	136	25285											
METTL7B	196410	genome.wustl.edu	37	chr12	56075629	56075629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctgctggcagcccCtgtgcaaaagctacttcccc	6	9	11	15	0	0	0	0	0	0	0	1	0	1	0	4	2	6	6	4	2	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:56075629C>A	ENST00000394252.3	+	1	300	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	31							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						CTGGCAGCCCCTGTGCAAAAG	0.597																																																	0													24	26	25					12																	56075629		692	1591	2283	SO:0001583	missense	0				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"associated with lipid droplets 1"					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.91C>A	12.37:g.56075629C>A	ENSP00000377796:p.Leu31Met		A8K247|Q8WUI1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.L31M	ENST00000394252.3	37	c.91	CCDS8887.2	12	.	.	.	.	.	.	.	.	.	.	C	8.262	0.811468	0.16537	.	.	ENSG00000170439	ENST00000394252	T	0.23552	1.9	4.85	-0.939	0.10408	.	0.551245	0.17241	U	0.181536	T	0.19765	0.0475	L	0.56769	1.78	0.09310	N	1	B	0.25441	0.126	B	0.26770	0.073	T	0.16988	-1.0384	10	0.44086	T	0.13	.	3.6035	0.08034	0.4179:0.3013:0.0:0.2808	.	31	Q6UX53	MET7B_HUMAN	M	31	ENSP00000377796:L31M	ENSP00000377796:L31M	L	+	1	2	METTL7B	54361896	0.000000	0.05858	0.287000	0.24848	0.030000	0.12068	-1.160000	0.03147	-0.060000	0.13132	-0.345000	0.07892	CTG	METTL7B	-	NULL	ENSG00000170439		0.597	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7B	HGNC	protein_coding	OTTHUMT00000327271.1		0	22	0	C	NM_152637		56075629	1			no_errors	ENST00000394252	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.002	A	A	56075629	C	A	56075629	3	1	88	1	0	0	0	0	1	0	0	0	9544	680	24	3	93	3	METTL7B	12	56075629	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	9864006	56075629	77776266	137	25286											
RBMS2	5939	genome.wustl.edu	37	chr12	56974967	56974967	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccctcttatgctccttaGgatggagtccacagagaagt	11	10	9	11	0	1	1	0	0	1	1	3	4	3	3	4	2	2	1	4	2	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:56974967G>T	ENST00000262031.5	+	6	637		c.e6-1		RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000552247.2_Splice_Site|RBMS2_ENST00000542360.1_Splice_Site	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ATGCTCCTTAGGATGGAGTCC	0.493																																																	0													146	144	145					12																	56974967		2203	4300	6503	SO:0001630	splice_region_variant	0			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"RNA binding motif (RRM) containing"	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.543-1G>T	12.37:g.56974967G>T				Splice_Site	SNP	-	e6-1	ENST00000262031.5	37	c.543-1	CCDS8923.1	12	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884451	0.72410	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	.	.	.	5.08	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6481	0.56746	0.0815:0.0:0.9185:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBMS2	55261234	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.214000	0.95140	1.289000	0.44618	0.563000	0.77884	.	RBMS2	-	-	ENSG00000076067		0.493	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS2	HGNC	protein_coding	OTTHUMT00000409366.2	-	0	46	0	G	NM_002898	Intron	56974967	1	tier1	-	no_errors	ENST00000262031	ensembl	human	known	74_37	splice_site	6.56	57	4	SNP	1.000	T	T	56974967	G	T	56974967	5	4	88	1	0	0	0	0	0	0	1	0	13194	1014	35	3	564	3	RBMS2	12	56974967	Splice_Site	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	899338	56974967	76876928	138	25287											
SRGAP1	57522	genome.wustl.edu	37	chr12	64474129	64474129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagccaaacatgacttgCtgcagaggaccctgggagaa	13	7	11	10	0	1	3	1	1	0	2	1	5	1	4	2	2	4	2	2	2	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:64474129C>T	ENST00000355086.3	+	10	1911	c.1387C>T	c.(1387-1389)Ctg>Ttg	p.L463L	SRGAP1_ENST00000357825.3_Silent_p.L463L|SRGAP1_ENST00000543397.1_Silent_p.L423L|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	463	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACATGACTTGCTGCAGAGGAC	0.358																																																	0													67	62	64					12																	64474129		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"Rho GTPase activating proteins"	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1387C>T	12.37:g.64474129C>T			Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L463	ENST00000355086.3	37	c.1387	CCDS8967.1	12																																																																																			SRGAP1	-	NULL	ENSG00000196935		0.358	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	-	0	48	0	C			64474129	1	tier1	-	no_errors	ENST00000355086	ensembl	human	known	74_37	silent	5.88	64	4	SNP	1.000	T	T	64474129	C	T	64474129	2	4	88	1	0	0	0	0	0	0	0	1	15192	796	28	3		3	SRGAP1	12	64474129	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	7499162	64474129	69377766	139	25288											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85466844	85466844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttacaaaaaattcagattGtaatttccttatctcccact	14	15	2	10	0	2	1	1	0	1	1	4	1	3	1	2	0	1	1	2	0	6	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:85466844G>T	ENST00000393217.2	+	11	2916	c.2855G>T	c.(2854-2856)tGt>tTt	p.C952F		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	952										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATTCAGATTGTAATTTCCTT	0.383																																																	0													99	94	96					12																	85466844		2203	4300	6503	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2855G>T	12.37:g.85466844G>T	ENSP00000376910:p.Cys952Phe		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.C952F	ENST00000393217.2	37	c.2855	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.688960	0.00738	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.53857	0.6	3.49	-3.46	0.04767	.	1.696490	0.04471	U	0.376074	T	0.41903	0.1179	L	0.52573	1.65	0.09310	N	1	B;B	0.23128	0.047;0.08	B;B	0.12156	0.007;0.007	T	0.29518	-1.0009	10	0.44086	T	0.13	.	4.442	0.11579	0.5957:0.0:0.2316:0.1728	.	952;927	Q96JM4;C9JI57	LRIQ1_HUMAN;.	F	952;927;952	ENSP00000376910:C952F	ENSP00000256007:C952F	C	+	2	0	LRRIQ1	83990975	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.484000	0.06763	-0.982000	0.02568	TGT	LRRIQ1	-	NULL	ENSG00000133640		0.383	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	67	0	G	NM_032165		85466844	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	49.38	41	40	SNP	0.000	T	T	85466844	G	T	85466844	3	4	88	1	0	0	0	0	1	0	0	0	9064	1377	48	3	2893	3	LRRIQ1	12	85466844	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	20992715	85466844	48385051	140	25289											
PRKAB1	5564	genome.wustl.edu	37	chr12	120110200	120110200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacggtgtttcgatggaCggggggcggaaaggaagttt	9	8	18	6	4	0	0	0	0	0	0	1	4	0	3	1	7	1	2	1	7	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:120110200C>T	ENST00000229328.5	+	2	746	c.254C>T	c.(253-255)aCg>aTg	p.T85M	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Missense_Mutation_p.T85M	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	85	Glycogen-binding domain. {ECO:0000250}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	TTTCGATGGACGGGGGGCGGA	0.517																																																	0													111	124	120					12																	120110200		2203	4300	6503	SO:0001583	missense	0			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"AMPK beta 1"	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.254C>T	12.37:g.120110200C>T	ENSP00000229328:p.Thr85Met		Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.T85M	ENST00000229328.5	37	c.254	CCDS9191.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.810550	0.90707	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596	.	.	.	5.29	5.29	0.74685	.	0.132141	0.64402	D	0.000001	T	0.62073	0.2398	L	0.58101	1.795	0.80722	D	1	D	0.54397	0.966	P	0.46339	0.513	T	0.66069	-0.6015	9	0.56958	D	0.05	-34.1632	19.137	0.93431	0.0:1.0:0.0:0.0	.	85	Q9Y478	AAKB1_HUMAN	M	85;85;48	.	ENSP00000229328:T85M	T	+	2	0	PRKAB1	118594583	1.000000	0.71417	0.991000	0.47740	0.848000	0.48234	5.582000	0.67477	2.759000	0.94783	0.555000	0.69702	ACG	PRKAB1	-	superfamily_Ig_E-set	ENSG00000111725		0.517	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB1	HGNC	protein_coding	OTTHUMT00000401731.2	-	0	50	0	C	NM_006253		120110200	1	tier1	-	no_errors	ENST00000229328	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	T	T	120110200	C	T	120110200	3	4	88	1	0	0	0	0	1	0	0	0	12537	536	19	1	260	1	PRKAB1	12	120110200	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	34643356	120110200	13741695	141	25290											
WDR66	144406	genome.wustl.edu	37	chr12	122359236	122359236	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcagcagaagctcccCgagaagcaacaggagaaaat	17	3	11	10	1	0	4	0	0	0	4	1	6	1	4	2	1	5	4	2	1	5	0	rs199761378		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:122359236C>T	ENST00000288912.4	+	2	879	c.25C>T	c.(25-27)Cga>Tga	p.R9*	RP11-87C12.2_ENST00000546333.1_3'UTR|WDR66_ENST00000397454.2_Nonsense_Mutation_p.R9*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	9	Glu-rich.						calcium ion binding (GO:0005509)	p.R9*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAAGCTCCCCGAGAAGCAAC	0.418													C|||	1	0.000199681	0	0	5008	,	,		17653	0.001		0	False		,,,				2504	0				Esophageal Squamous(85;849 1794 49757 52143)												1	Substitution - Nonsense(1)	soft_tissue(1)						C	stop/ARG,stop/ARG	1,3723		0,1,1861	70	72	71		25,25	-5.9	0	12		71	1,8211		0,1,4105	yes	stop-gained,stop-gained	WDR66	NM_001178003.1,NM_144668.5	,	0,2,5966	TT,TC,CC		0.0122,0.0269,0.0168	,	9/942,9/1150	122359236	2,11934	1862	4106	5968	SO:0001587	stop_gained	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.25C>T	12.37:g.122359236C>T	ENSP00000288912:p.Arg9*		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R9*	ENST00000288912.4	37	c.25	CCDS41853.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.31	1.900368	0.33535	2.69E-4	1.22E-4	ENSG00000158023	ENST00000288912;ENST00000397454	.	.	.	3.89	-5.95	0.02241	.	3.503140	0.01491	N	0.017075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	5.9319	0.19144	0.1436:0.3625:0.4151:0.0788	.	.	.	.	X	9	.	ENSP00000288912:R9X	R	+	1	2	WDR66	120843619	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.665000	0.05286	-1.722000	0.01377	-2.836000	0.00105	CGA	WDR66	-	NULL	ENSG00000158023		0.418	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1		0	26	0	C	NM_144668		122359236	1			no_errors	ENST00000288912	ensembl	human	known	74_37	nonsense	9.38	29	3	SNP	0.000	T	T	122359236	C	T	122359236	4	4	88	1	0	0	0	0	0	1	0	0	17366	644	23	1	27	1	WDR66	12	122359236	Nonsense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	2249036	122359236	11492659	142	25291											
ZCCHC8	55596	genome.wustl.edu	37	chr12	122985317	122985317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgagtgtgaacgggcttcGgaatcgactcctctgggtgg	7	9	16	9	4	1	1	0	1	1	0	4	4	2	2	1	4	2	1	1	4	2	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr12:122985317G>A	ENST00000336229.4	-	1	201	c.71C>T	c.(70-72)cCg>cTg	p.P24L	ZCCHC8_ENST00000543897.1_5'Flank|ZCCHC8_ENST00000536306.1_5'Flank	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	24					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AACGGGCTTCGGAATCGACTC	0.597																																																	0													27	32	31					12																	122985317		1908	4094	6002	SO:0001583	missense	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.71C>T	12.37:g.122985317G>A	ENSP00000337313:p.Pro24Leu		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.P24L	ENST00000336229.4	37	c.71		12	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432873	0.43224	.	.	ENSG00000033030	ENST00000336229	T	0.47869	0.83	5.46	2.47	0.30058	.	0.111381	0.64402	N	0.000009	T	0.43322	0.1242	M	0.63428	1.95	0.23113	N	0.998275	B	0.18968	0.032	B	0.10450	0.005	T	0.37291	-0.9712	10	0.44086	T	0.13	-4.6387	11.3303	0.49473	0.1242:0.1761:0.6997:0.0	.	24	Q6NZY4	ZCHC8_HUMAN	L	24	ENSP00000337313:P24L	ENSP00000337313:P24L	P	-	2	0	ZCCHC8	121551270	0.997000	0.39634	0.824000	0.32777	0.410000	0.31052	3.347000	0.52200	0.375000	0.24679	-1.814000	0.00607	CCG	ZCCHC8	-	NULL	ENSG00000033030		0.597	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding		-	0	37	0	G	NM_017612		122985317	-1	tier1	-	no_errors	ENST00000336229	ensembl	human	known	74_37	missense	20.90	53	14	SNP	0.272	A	A	122985317	G	A	122985317	3	1	88	1	0	0	0	0	1	0	0	0	17642	1116	39	1	2108	1	ZCCHC8	12	122985317	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	626081	122985317	10866578	143	25292											
XPO4	64328	genome.wustl.edu	37	chr13	21396395	21396395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcactgcagagaatcttgtgCcatatctgaatcttctctga	10	13	8	10	0	4	3	0	2	4	1	5	4	4	3	1	0	2	2	1	0	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:21396395C>T	ENST00000255305.6	-	8	945	c.874G>A	c.(874-876)Gca>Aca	p.A292T	XPO4_ENST00000400602.2_Missense_Mutation_p.A292T			Q9C0E2	XPO4_HUMAN	exportin 4	292					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GAATCTTGTGCCATATCTGAA	0.393																																																	0													136	133	134					13																	21396395		1879	4100	5979	SO:0001583	missense	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"Exportins"	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.874G>A	13.37:g.21396395C>T	ENSP00000255305:p.Ala292Thr		Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A292T	ENST00000255305.6	37	c.874	CCDS41872.1	13	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747163	0.89663	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.67345	-0.26;-0.26	5.57	5.57	0.84162	Armadillo-type fold (1);	0.046713	0.85682	D	0.000000	T	0.63331	0.2502	L	0.44542	1.39	0.80722	D	1	P	0.37663	0.604	B	0.38803	0.282	T	0.59402	-0.7461	10	0.27785	T	0.31	-12.4124	19.9066	0.97010	0.0:1.0:0.0:0.0	.	292	Q9C0E2	XPO4_HUMAN	T	292;162;292	ENSP00000383444:A292T;ENSP00000255305:A292T	ENSP00000255305:A292T	A	-	1	0	XPO4	20294395	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.445000	0.80570	2.779000	0.95612	0.655000	0.94253	GCA	XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.393	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1		0	24	0	C	NM_022459		21396395	-1			no_errors	ENST00000255305	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	21396395	C	T	21396395	3	4	88	1	0	0	0	0	1	0	0	0	17495	739	26	3	2645	3	XPO4	13	21396395	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		21396395	93773483	144	25293											
ALOX5AP	241	genome.wustl.edu	37	chr13	31338241	31338241	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctctacttctcattcccTaactctctgctgaatatggg	7	14	5	15	0	3	1	1	1	3	0	6	1	4	1	3	1	3	1	3	1	4	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:31338241T>A	ENST00000380490.3	+	5	582	c.484T>A	c.(484-486)Taa>Aaa	p.*162K		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	0					arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TCTCATTCCCTAACTCTCTGC	0.403																																																	0													179	156	164					13																	31338241		2203	4300	6503	SO:0001578	stop_lost	0			AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"five-lipoxygenase activating protein", "MK-886-binding protein"	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.484T>A	13.37:g.31338241T>A	ENSP00000369858:p.*162Lysext*12		Q5VV04	Nonstop_Mutation	SNP	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP	p.*162K	ENST00000380490.3	37	c.484	CCDS9337.1	13	.	.	.	.	.	.	.	.	.	.	T	12.28	1.889293	0.33348	.	.	ENSG00000132965	ENST00000380490	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9521	0.71083	0.0:0.0:0.0:1.0	.	.	.	.	K	162	.	.	X	+	1	0	ALOX5AP	30236241	0.977000	0.34250	0.830000	0.32933	0.285000	0.27093	7.442000	0.80503	1.939000	0.56221	0.533000	0.62120	TAA	ALOX5AP	-	NULL	ENSG00000132965		0.403	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5AP	HGNC	protein_coding	OTTHUMT00000044372.1	-	0	87	0	T	NM_001629		31338241	1	tier1	-	no_errors	ENST00000380490	ensembl	human	known	74_37	nonstop	66.67	20	40	SNP	0.989	A	A	31338241	T	A	31338241	4	1	88	1	0	0	0	0	0	0	0	0	541	1535	53	5	502	5	ALOX5AP	13	31338241	Nonstop_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	9941846	31338241	83831637	145	25294											
RB1	5925	genome.wustl.edu	37	chr13	49039405	49039406	+	Frame_Shift_Ins	INS	-	-	A																															aagtttcctagttcacccttINSacggattcctggagggaaca																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:49039405_49039406insA	ENST00000267163.4	+	23	2528_2529	c.2390_2391insA	c.(2389-2394)ttacggfs	p.R798fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	798	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R798fs*17(1)|p.L797fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGTTCACCCTTACGGATTCCTG	0.401		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"L, E, M, O"	28	Whole gene deletion(15)|Unknown(11)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|eye(2)|adrenal_gland(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|ovary(1)|liver(1)	GRCh37	CI012716|CM023820	RB1	I|M																																				SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"Endogenous ligands"	9884	protein-coding gene	gene with protein product	"prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130"	614041	"osteosarcoma"	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2391dupA	13.37:g.49039406_49039406dupA	ENSP00000267163:p.Arg798fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.R798fs	ENST00000267163.4	37	c.2390_2391	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_C	ENSG00000139687		0.401	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0	60	0	-			49039406	1	tier1		no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_ins	59.32	24	35	INS	1.000:0.992	A	A	49039406	-	A	49039405	7	5	88	1	0	1	1	0	0	0	0	0	13143	1764	61	0	2480	0	RB1	13	49039405	Frame_Shift_Ins	INS	-	TCGA-L5-A8NN-01A-11D-A37C-09	17701164	49039405	66130473	146	25295											
SLITRK5	26050	genome.wustl.edu	37	chr13	88327779	88327779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccatcgattattatgggGaaatctgtgacaatgcatgt	14	12	9	6	1	1	1	0	1	1	0	2	3	1	2	1	2	2	1	1	2	5	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:88327779G>A	ENST00000325089.6	+	2	355	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	46					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTATTATGGGGAAATCTGTGA	0.463																																																	0													170	144	153					13																	88327779		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"leucine rich repeat containing 11"	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.136G>A	13.37:g.88327779G>A	ENSP00000366283:p.Glu46Lys		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E46K	ENST00000325089.6	37	c.136	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623099	0.66901	.	.	ENSG00000165300	ENST00000325089	T	0.60040	0.22	5.94	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.59266	0.2181	N	0.16743	0.435	0.80722	D	1	D	0.71674	0.998	D	0.68765	0.96	T	0.58929	-0.7549	9	.	.	.	-8.6791	14.0621	0.64806	0.0:0.0:0.848:0.152	.	46	O94991	SLIK5_HUMAN	K	46	ENSP00000366283:E46K	.	E	+	1	0	SLITRK5	87125780	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.876000	0.87215	1.483000	0.48342	0.561000	0.74099	GAA	SLITRK5	-	NULL	ENSG00000165300		0.463	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0	38	0	G			88327779	1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A	A	88327779	G	A	88327779	3	1	88	1	0	0	0	0	1	0	0	0	14791	1175	41	3	138	3	SLITRK5	13	88327779	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	39288374	88327779	26842099	147	25296											
BIVM	54841	genome.wustl.edu	37	chr13	103473443	103473443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatctcttcattaatttCttgttggaatttcttataca	9	20	5	7	0	4	0	1	0	3	0	5	1	4	1	0	2	1	2	0	2	4	8			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:103473443C>A	ENST00000257336.1	+	5	1341	c.662C>A	c.(661-663)tCt>tAt	p.S221Y	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.F192L|BIVM_ENST00000448849.2_De_novo_Start_OutOfFrame|RNY5P8_ENST00000410369.1_RNA|BIVM_ENST00000419638.1_Missense_Mutation_p.S221Y	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	221						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCATTAATTTCTTGTTGGAAT	0.363																																																	0													180	185	183					13																	103473443		2203	4300	6503	SO:0001583	missense	0			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.662C>A	13.37:g.103473443C>A	ENSP00000257336:p.Ser221Tyr		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	NULL	p.S221Y	ENST00000257336.1	37	c.662	CCDS9505.1	13	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729124	0.89390	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	M	0.71036	2.16	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.81422	-0.0940	9	0.87932	D	0	.	18.7922	0.91978	0.0:1.0:0.0:0.0	.	192;221	Q59FZ7;Q86UB2	.;BIVM_HUMAN	Y	221;221;192	.	ENSP00000257336:S221Y	S	+	2	0	ERCC5;BIVM	102271444	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.165000	0.77544	2.539000	0.85634	0.561000	0.74099	TCT	BIVM	-	NULL	ENSG00000134897		0.363	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BIVM	HGNC	protein_coding	OTTHUMT00000045704.2	-	0	62	0	C			103473443	1	tier1	-	no_errors	ENST00000257336	ensembl	human	known	74_37	missense	62.00	19	31	SNP	1.000	A	A	103473443	C	A	103473443	3	1	88	1	0	0	0	0	1	0	0	0	1443	913	32	3	672	3	BIVM	13	103473443	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	15145664	103473443	11696435	148	25297											
GRK1	6011	genome.wustl.edu	37	chr13	114321951	114321951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcggcagagaagcacctgCcggccctggagctctggaaa	11	5	13	12	2	1	1	0	0	1	1	2	4	1	3	3	4	3	3	3	4	3	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr13:114321951C>T	ENST00000335678.6	+	1	482	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	84	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.P84S(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAAGCACCTGCCGGCCCTGGA	0.592																																																	1	Substitution - Missense(1)	skin(1)											44	48	47					13																	114321951		2029	4191	6220	SO:0001583	missense	0					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"rhodopsin kinase"	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.250C>T	13.37:g.114321951C>T	ENSP00000334876:p.Pro84Ser		Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P84S	ENST00000335678.6	37	c.250		13	.	.	.	.	.	.	.	.	.	.	C	4.562	0.104449	0.08731	.	.	ENSG00000185974	ENST00000335678	T	0.02197	4.4	5.1	5.1	0.69264	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.168787	0.52532	D	0.000061	T	0.06188	0.0160	.	.	.	0.45979	D	0.998793	D	0.69078	0.997	P	0.60886	0.88	T	0.56092	-0.8036	9	0.10111	T	0.7	-39.2791	16.0324	0.80588	0.0:1.0:0.0:0.0	.	84	Q15835	RK_HUMAN	S	84	ENSP00000334876:P84S	ENSP00000334876:P84S	P	+	1	0	GRK1	113369952	0.978000	0.34361	0.271000	0.24616	0.061000	0.15899	3.765000	0.55272	2.357000	0.79964	0.561000	0.74099	CCG	GRK1	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000185974		0.592	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1		0	48	0	C	NM_002929		114321951	1			no_errors	ENST00000335678	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.959	T	T	114321951	C	T	114321951	3	4	88	1	0	0	0	0	1	0	0	0	6817	739	26	3	252	3	GRK1	13	114321951	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	10848508	114321951	847927	149	25298											
SLC7A7	9056	genome.wustl.edu	37	chr14	23248143	23248143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattctcaaaatgagtagagGctcctggaacccaagaacat	16	8	8	9	0	1	3	1	1	1	2	3	4	2	4	2	2	2	2	2	2	7	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:23248143G>T	ENST00000397532.3	-	4	1154	c.629C>A	c.(628-630)gCc>gAc	p.A210D	SLC7A7_ENST00000554517.1_5'UTR|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A210D|SLC7A7_ENST00000397529.2_Missense_Mutation_p.A210D|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000555702.1_Missense_Mutation_p.A210D|SLC7A7_ENST00000397528.4_Missense_Mutation_p.A210D			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	210					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ATGAGTAGAGGCTCCTGGAAC	0.463																																																	0													72	69	70					14																	23248143		2203	4300	6503	SO:0001583	missense	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.629C>A	14.37:g.23248143G>T	ENSP00000380666:p.Ala210Asp		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.A210D	ENST00000397532.3	37	c.629	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391651	0.25118	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528	D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61	4.76	2.65	0.31530	Amino acid permease domain (1);	1.110600	0.06790	N	0.786788	T	0.79673	0.4486	N	0.12961	0.28	0.80722	D	1	B	0.19935	0.04	B	0.25759	0.063	T	0.67166	-0.5739	10	0.26408	T	0.33	.	6.406	0.21664	0.0:0.1357:0.4406:0.4237	.	210	Q9UM01	YLAT1_HUMAN	D	210;210;210;183;210;210	ENSP00000285850:A210D;ENSP00000451881:A210D;ENSP00000380666:A210D;ENSP00000380663:A210D;ENSP00000380662:A210D	ENSP00000285850:A210D	A	-	2	0	SLC7A7	22317983	1.000000	0.71417	0.903000	0.35520	0.882000	0.50991	1.735000	0.38176	0.951000	0.37770	0.561000	0.74099	GCC	SLC7A7	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000155465		0.463	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	-	0	46	0	G			23248143	-1	tier1	-	no_errors	ENST00000285850	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.902	T	T	23248143	G	T	23248143	3	4	88	1	0	0	0	0	1	0	0	0	14748	1203	42	3	934	3	SLC7A7	14	23248143	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		23248143	84101397	150	25299											
CMTM5	116173	genome.wustl.edu	37	chr14	23848315	23848315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacctcccgggacggaGctgccattgctgcttttgtg	4	12	13	12	2	0	1	0	1	0	0	1	3	1	3	3	2	4	3	3	2	0	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:23848315G>T	ENST00000339180.4	+	4	772	c.556G>T	c.(556-558)Gct>Tct	p.A186S	CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000359320.3_Missense_Mutation_p.A119S|CMTM5_ENST00000397227.3_Missense_Mutation_p.A68S|CMTM5_ENST00000555731.1_Missense_Mutation_p.A81S|CMTM5_ENST00000382809.2_Intron			Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	186	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A119P(1)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCGGGACGGAGCTGCCATTGC	0.582																																																	1	Substitution - Missense(1)	prostate(1)											89	75	80					14																	23848315		2203	4300	6503	SO:0001583	missense	0			BC013109	CCDS9598.1, CCDS32050.1, CCDS73617.1, CCDS73618.1, CCDS73619.1	14q11.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000166091	ENSG00000166091			19176	protein-coding gene	gene with protein product		607888	"chemokine-like factor super family 5", "chemokine-like factor superfamily 5"	CKLFSF5			Standard	NM_138460		Approved	FLJ37521	uc001wjs.3	Q96DZ9	OTTHUMG00000028751	ENST00000339180.4:c.556G>T	14.37:g.23848315G>T	ENSP00000344819:p.Ala186Ser		E9PH91|Q5PY48	Missense_Mutation	SNP	NULL	p.A186S	ENST00000339180.4	37	c.556		14	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085475	0.76642	.	.	ENSG00000166091	ENST00000359320;ENST00000339180;ENST00000397227;ENST00000555731	T;T;T	0.50001	1.82;0.78;0.76	5.45	4.51	0.55191	Marvel (1);	0.334167	0.26248	N	0.025480	T	0.51907	0.1702	.	.	.	0.80722	D	1	P;P;P;P	0.49559	0.607;0.846;0.607;0.925	B;B;B;P	0.49597	0.187;0.38;0.187;0.616	T	0.54596	-0.8270	9	0.62326	D	0.03	-0.221	11.6211	0.51119	0.0:0.1315:0.7335:0.1349	.	81;186;68;119	C9JAI6;Q96DZ9;Q96DZ9-5;Q96DZ9-2	.;CKLF5_HUMAN;.;.	S	119;186;68;81	ENSP00000352270:A119S;ENSP00000344819:A186S;ENSP00000451514:A81S	ENSP00000344819:A186S	A	+	1	0	CMTM5	22918155	0.998000	0.40836	1.000000	0.80357	0.985000	0.73830	0.667000	0.25112	2.714000	0.92807	0.561000	0.74099	GCT	CMTM5	-	NULL	ENSG00000166091		0.582	CMTM5-003	KNOWN	basic	protein_coding	CMTM5	HGNC	protein_coding	OTTHUMT00000133708.2	-	0	60	0	G			23848315	1	tier1	-	no_errors	ENST00000339180	ensembl	human	known	74_37	missense	25.61	60	21	SNP	1.000	T	T	23848315	G	T	23848315	3	4	88	1	0	0	0	0	1	0	0	0	3593	971	34	3	365	3	CMTM5	14	23848315	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	600172	23848315	83501225	151	25300											
MYH6	4624	genome.wustl.edu	37	chr14	23863421	23863421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggccatctccttctcCgtctctgcgctcttcagcag	4	13	9	15	2	5	0	1	0	4	0	8	0	5	0	3	2	2	2	3	2	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:23863421C>T	ENST00000356287.3	-	20	2570	c.2541G>A	c.(2539-2541)acG>acA	p.T847T	MYH6_ENST00000405093.3_Silent_p.T847T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	847					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTCCTTCTCCGTCTCTGCGC	0.557																																																	0													124	112	116					14																	23863421		2203	4300	6503	SO:0001819	synonymous_variant	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2541G>A	14.37:g.23863421C>T			A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T847	ENST00000356287.3	37	c.2541	CCDS9600.1	14																																																																																			MYH6	-	NULL	ENSG00000197616		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	48	0	C			23863421	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	silent	40.68	35	24	SNP	0.002	T	T	23863421	C	T	23863421	2	4	88	1	0	0	0	0	0	0	0	1	10076	639	23	1		1	MYH6	14	23863421	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	15106	23863421	83486119	152	25301											
FBXO34	55030	genome.wustl.edu	37	chr14	55818138	55818138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acactcaggtgaatcctgtgGggtctgtatctgtggattgt	7	14	13	7	0	3	1	1	1	2	0	4	2	4	2	1	4	0	1	1	4	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:55818138G>A	ENST00000313833.4	+	2	1275	c.1030G>A	c.(1030-1032)Ggg>Agg	p.G344R	FBXO34_ENST00000440021.1_Missense_Mutation_p.G344R	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	344										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GAATCCTGTGGGGTCTGTATC	0.532																																																	0													114	109	111					14																	55818138		2203	4300	6503	SO:0001583	missense	0			AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"F-boxes /  "other""	20201	protein-coding gene	gene with protein product		609104	"F-box only protein 34"				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1030G>A	14.37:g.55818138G>A	ENSP00000313159:p.Gly344Arg		Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	superfamily_F-box_dom,pfscan_F-box_dom	p.G344R	ENST00000313833.4	37	c.1030	CCDS32086.1	14	.	.	.	.	.	.	.	.	.	.	G	0.697	-0.792316	0.02884	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.19394	2.15;2.15	5.34	4.46	0.54185	.	0.196970	0.30949	N	0.008548	T	0.17408	0.0418	L	0.44542	1.39	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.13442	-1.0509	10	0.35671	T	0.21	-27.6628	8.9015	0.35497	0.0856:0.4058:0.5086:0.0	.	344	Q9NWN3	FBX34_HUMAN	R	344	ENSP00000313159:G344R;ENSP00000394117:G344R	ENSP00000313159:G344R	G	+	1	0	FBXO34	54887891	0.004000	0.15560	0.025000	0.17156	0.008000	0.06430	1.508000	0.35769	1.481000	0.48307	0.650000	0.86243	GGG	FBXO34	-	NULL	ENSG00000178974		0.532	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO34	HGNC	protein_coding	OTTHUMT00000411322.1	-	0	31	0	G			55818138	1	tier1	-	no_errors	ENST00000313833	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.003	A	A	55818138	G	A	55818138	3	1	88	1	0	0	0	0	1	0	0	0	5766	1232	43	3	1032	3	FBXO34	14	55818138	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	31954717	55818138	51531402	153	25302											
ADAM21	8747	genome.wustl.edu	37	chr14	70926242	70926242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtattgacagtggcccaGcatctgcaaagagaggagtt	12	8	13	8	0	1	2	0	1	1	1	1	4	1	3	1	2	2	5	1	2	2	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:70926242G>T	ENST00000603540.1	+	2	2284	c.2026G>T	c.(2026-2028)Gca>Tca	p.A676S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.A676S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	676					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGTGGCCCAGCATCTGCAAA	0.493																																																	0													70	57	61					14																	70926242		2203	4300	6503	SO:0001583	missense	0			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"ADAM metallopeptidase domain containing"	200	protein-coding gene	gene with protein product		603713	"a disintegrin and metalloproteinase domain 21"			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.2026G>T	14.37:g.70926242G>T	ENSP00000474385:p.Ala676Ser		O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.A676S	ENST00000603540.1	37	c.2026	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	9.036	0.988409	0.18966	.	.	ENSG00000139985	ENST00000267499	T	0.01185	5.21	4.62	1.64	0.23874	.	0.621864	0.13113	U	0.412813	T	0.01627	0.0052	L	0.50993	1.605	0.24662	N	0.993464	B	0.28933	0.228	B	0.31614	0.133	T	0.42085	-0.9472	10	0.59425	D	0.04	.	7.3366	0.26613	0.1612:0.4297:0.4091:0.0	.	676	Q9UKJ8	ADA21_HUMAN	S	676	ENSP00000267499:A676S	ENSP00000267499:A676S	A	+	1	0	ADAM21	69995995	0.029000	0.19370	0.985000	0.45067	0.759000	0.43091	-0.039000	0.12124	0.226000	0.20979	0.655000	0.94253	GCA	ADAM21	-	NULL	ENSG00000139985		0.493	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	HGNC	protein_coding	OTTHUMT00000413008.3		0	67	0	G			70926242	1			no_errors	ENST00000267499	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.922	T	T	70926242	G	T	70926242	3	4	88	1	0	0	0	0	1	0	0	0	243	971	34	3	2028	3	ADAM21	14	70926242	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	15108104	70926242	36423298	154	25303											
ATXN3	4287	genome.wustl.edu	37	chr14	92563080	92563080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccattctcatcctctcctCctcatccagctgatgtgcaa	7	13	5	16	0	3	1	2	1	2	0	8	1	6	1	5	0	3	2	5	0	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:92563080C>G	ENST00000532032.1	-	2	136	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	ATXN3_ENST00000503767.1_Missense_Mutation_p.E43Q|ATXN3_ENST00000545170.1_Missense_Mutation_p.E43Q|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Missense_Mutation_p.E43Q|ATXN3_ENST00000429774.2_Missense_Mutation_p.E43Q			P54252	ATX3_HUMAN	ataxin 3	43	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATCCTCTCCTCCTCATCCAGC	0.393																																					Esophageal Squamous(190;752 2094 29897 44875 49530)												0													189	151	164					14																	92563080		2203	4300	6503	SO:0001583	missense	0			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"Ataxins"	7106	protein-coding gene	gene with protein product		607047	"Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.127G>C	14.37:g.92563080C>G	ENSP00000437157:p.Glu43Gln		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.E43Q	ENST00000532032.1	37	c.127		14	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890953	0.52014	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000532032;ENST00000554592;ENST00000553491;ENST00000506466	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.67	5.67	0.87782	.	0.045213	0.85682	D	0.000000	T	0.43277	0.1240	L	0.39898	1.24	0.47698	D	0.999497	B;B;B	0.29671	0.254;0.202;0.232	B;B;B	0.39660	0.183;0.306;0.215	T	0.28170	-1.0052	10	0.38643	T	0.18	.	15.3347	0.74241	0.0:0.8608:0.1392:0.0	.	43;43;43	P54252;E9PB63;P54252-2	ATX3_HUMAN;.;.	Q	43;43;43;43;43;43;43;43;42;43;43;43;43;43;43	ENSP00000445618:E43Q;ENSP00000389376:E43Q;ENSP00000376965:E43Q;ENSP00000426697:E43Q;ENSP00000437157:E43Q;ENSP00000451385:E43Q;ENSP00000451996:E43Q;ENSP00000435571:E43Q	ENSP00000352324:E43Q	E	-	1	0	ATXN3	91632833	1.000000	0.71417	0.990000	0.47175	0.437000	0.31866	5.798000	0.69095	2.700000	0.92200	0.549000	0.68633	GAG	ATXN3	-	pfam_Josephin,pfscan_Josephin	ENSG00000066427		0.393	ATXN3-015	KNOWN	basic	protein_coding	ATXN3	HGNC	protein_coding	OTTHUMT00000388065.1	-	0	48	0	C	NM_004993		92563080	-1	tier1	-	no_errors	ENST00000545170	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	G	G	92563080	C	G	92563080	3	3	88	1	0	0	0	0	1	0	0	0	1214	864	30	5	998	5	ATXN3	14	92563080	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	21636838	92563080	14786460	155	25304											
CHGA	1113	genome.wustl.edu	37	chr14	93398760	93398760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgggaagcctggggCtgaggaggctcaggaccccg	7	5	19	10	1	1	1	1	1	0	0	1	5	1	5	3	7	2	3	3	7	1	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:93398760C>T	ENST00000216492.5	+	7	1134	c.854C>T	c.(853-855)gCt>gTt	p.A285V	CHGA_ENST00000334654.4_Missense_Mutation_p.A134V	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	285					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAGCCTGGGGCTGAGGAGGCT	0.642																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													31	21	25					14																	93398760		2196	4292	6488	SO:0001583	missense	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.854C>T	14.37:g.93398760C>T	ENSP00000216492:p.Ala285Val		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.A285V	ENST00000216492.5	37	c.854	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	6.886	0.532964	0.13188	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01647	4.71;4.71	4.93	2.92	0.33932	.	0.795759	0.11616	N	0.546203	T	0.01905	0.0060	L	0.40543	1.245	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.17722	0.003;0.019	T	0.44772	-0.9306	10	0.34782	T	0.22	-1.0299	4.937	0.13946	0.26:0.629:0.0:0.111	.	134;285	G5E968;P10645	.;CMGA_HUMAN	V	285;134	ENSP00000216492:A285V;ENSP00000334023:A134V	ENSP00000216492:A285V	A	+	2	0	CHGA	92468513	0.082000	0.21442	0.279000	0.24732	0.252000	0.25951	0.390000	0.20768	1.070000	0.40811	-0.263000	0.10527	GCT	CHGA	-	pfam_Granin	ENSG00000100604		0.642	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	-	0	123	0	C	NM_001275		93398760	1	tier1	-	no_errors	ENST00000216492	ensembl	human	known	74_37	missense	14.13	79	13	SNP	0.028	T	T	93398760	C	T	93398760	3	4	88	1	0	0	0	0	1	0	0	0	3345	797	28	3	880	3	CHGA	14	93398760	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	835680	93398760	13950780	156	25305											
JAG2	3714	genome.wustl.edu	37	chr14	105617246	105617246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcgacagtcgttgaCgtctgggggcagaggagcag	7	6	17	11	4	1	2	0	1	1	1	2	4	1	3	1	3	2	3	1	3	0	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr14:105617246C>T	ENST00000331782.3	-	11	1787	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.V424I	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	462	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGTCGTTGACGTCTGGGGGC	0.701																																																	0													14	16	16					14																	105617246		2193	4285	6478	SO:0001583	missense	0			AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.1384G>A	14.37:g.105617246C>T	ENSP00000328169:p.Val462Ile		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.V462I	ENST00000331782.3	37	c.1384	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	C	0.265	-0.996849	0.02145	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.87103	-2.21;-2.21	3.33	-3.78	0.04333	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.392785	0.25238	N	0.032101	T	0.54679	0.1873	N	0.00811	-1.165	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.59643	-0.7416	10	0.02654	T	1	.	9.4422	0.38675	0.0:0.2236:0.0:0.7764	.	424;462	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	I	462;424	ENSP00000328169:V462I;ENSP00000328566:V424I	ENSP00000328169:V462I	V	-	1	0	JAG2	104688291	0.000000	0.05858	0.067000	0.19924	0.763000	0.43281	-1.052000	0.03503	-0.807000	0.04393	0.297000	0.19635	GTC	JAG2	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000184916		0.701	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	HGNC	protein_coding	OTTHUMT00000276506.2	-	0	40	0	C			105617246	-1	tier1	-	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	58.14	18	25	SNP	0.132	T	T	105617246	C	T	105617246	3	4	88	1	0	0	0	0	1	0	0	0	7962	536	19	1	2396	1	JAG2	14	105617246	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	12218486	105617246	1732294	157	25306											
PLCB2	5330	genome.wustl.edu	37	chr15	40594185	40594185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggggaggtggcaggcactGagagcagcttccacccgctt	7	8	15	11	1	0	1	0	1	0	1	1	3	1	2	2	5	2	5	2	5	0	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:40594185G>A	ENST00000260402.3	-	7	804	c.555C>T	c.(553-555)ctC>ctT	p.L185L	PLCB2_ENST00000543785.2_Silent_p.L185L|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000456256.2_Silent_p.L185L|PLCB2_ENST00000557821.1_Silent_p.L185L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	185					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCACTGAGAGCAGCTT	0.567																																																	0													46	50	49					15																	40594185		2018	4186	6204	SO:0001819	synonymous_variant	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.555C>T	15.37:g.40594185G>A			A8K6J2|B9EGH5	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L185	ENST00000260402.3	37	c.555	CCDS42020.1	15																																																																																			PLCB2	-	pirsf_PLC-beta	ENSG00000137841		0.567	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	-	0	59	0	G			40594185	-1	tier1	-	no_errors	ENST00000260402	ensembl	human	known	74_37	silent	29.73	26	11	SNP	0.988	A	A	40594185	G	A	40594185	2	1	88	1	0	0	0	0	0	0	0	1	12067	1277	45	3		3	PLCB2	15	40594185	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		40594185	61937207	158	25307											
CDAN1	146059	genome.wustl.edu	37	chr15	43016780	43016780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggctcggctagaaacAgattagacagtgttgctaat	11	10	14	6	1	0	3	0	0	0	3	1	3	0	3	0	4	2	4	0	4	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:43016780A>G	ENST00000356231.3	-	28	3616	c.3593T>C	c.(3592-3594)cTg>cCg	p.L1198P		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	1198					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGCTAGAAACAGATTAGACAG	0.502																																																	0													36	33	34					15																	43016780		2153	4187	6340	SO:0001583	missense	0			AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"congenital dyserythropoietic anemia, type I"			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.3593T>C	15.37:g.43016780A>G	ENSP00000348564:p.Leu1198Pro		Q6NYD0|Q7Z7L5|Q969N3	Missense_Mutation	SNP	NULL	p.L1198P	ENST00000356231.3	37	c.3593	CCDS32209.1	15	.	.	.	.	.	.	.	.	.	.	A	13.40	2.225573	0.39300	.	.	ENSG00000140326	ENST00000356231;ENST00000267892	D	0.88664	-2.41	6.07	4.94	0.65067	.	0.297356	0.28290	N	0.015889	D	0.91791	0.7403	L	0.51422	1.61	0.48975	D	0.999737	D;D	0.89917	0.999;1.0	D;D	0.91635	0.974;0.999	D	0.91458	0.5187	10	0.72032	D	0.01	-4.0784	10.1101	0.42557	0.9234:0.0:0.0766:0.0	.	1198;1196	Q8IWY9;C9K0H8	CDAN1_HUMAN;.	P	1198;1196	ENSP00000348564:L1198P	ENSP00000267892:L1196P	L	-	2	0	CDAN1	40804072	0.933000	0.31639	0.456000	0.27044	0.025000	0.11179	3.567000	0.53813	1.108000	0.41662	0.533000	0.62120	CTG	CDAN1	-	NULL	ENSG00000140326		0.502	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDAN1	HGNC	protein_coding	OTTHUMT00000431103.1		0	67	0	A	XM_085300		43016780	-1			no_errors	ENST00000356231	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.668	G	G	43016780	A	G	43016780	3	3	88	1	0	0	0	0	1	0	0	0	3061	188	7	4	94	4	CDAN1	15	43016780	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	2422595	43016780	59514612	159	25308											
ELL3	80237	genome.wustl.edu	37	chr15	44066533	44066533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttgctgttctgcactGtggatggccctgtattgcct	4	15	12	10	0	1	0	0	0	1	0	1	1	1	1	2	2	3	6	2	2	1	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:44066533G>A	ENST00000319359.3	-	9	1526	c.885C>T	c.(883-885)caC>caT	p.H295H	ELL3_ENST00000497465.1_5'UTR|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	295					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GTTCTGCACTGTGGATGGCCC	0.493																																																	0													139	111	121					15																	44066533		2198	4298	6496	SO:0001819	synonymous_variant	0			AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.885C>T	15.37:g.44066533G>A			B3KQ66|B3KX08|Q6I9Z7|Q9H634	Silent	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.H295	ENST00000319359.3	37	c.885	CCDS10102.1	15																																																																																			ELL3	-	pfam_Occludin_RNApol2_elong_fac_ELL	ENSG00000128886		0.493	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL3	HGNC	protein_coding	OTTHUMT00000133236.2	-	0	47	0	G	NM_025165		44066533	-1	tier1	-	no_errors	ENST00000319359	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.952	A	A	44066533	G	A	44066533	2	1	88	1	0	0	0	0	0	0	0	1	5080	1368	48	3		3	ELL3	15	44066533	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	1049753	44066533	58464859	160	25309											
MFAP1	4236	genome.wustl.edu	37	chr15	44107236	44107236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtcactctctcctacCacttcaggttccactatttt	7	16	4	14	0	4	1	2	1	2	0	7	1	6	1	3	1	1	1	3	1	2	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:44107236C>T	ENST00000267812.3	-	3	568	c.336G>A	c.(334-336)gtG>gtA	p.V112V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	112					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCTCCTACCACTTCAGGTT	0.418																																																	0													215	192	199					15																	44107236		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.336G>A	15.37:g.44107236C>T			Q86TG6	Silent	SNP	pfam_MFAP1_C	p.V112	ENST00000267812.3	37	c.336	CCDS10105.1	15																																																																																			MFAP1	-	NULL	ENSG00000140259		0.418	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	-	0	48	0	C	NM_005926		44107236	-1	tier1	-	no_errors	ENST00000267812	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.793	T	T	44107236	C	T	44107236	2	4	88	1	0	0	0	0	0	0	0	1	9551	581	21	3		3	MFAP1	15	44107236	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	40703	44107236	58424156	161	25310											
ITGA11	22801	genome.wustl.edu	37	chr15	68649617	68649617	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcatgcaccacatcttcGccatactgcacaactccaac	13	8	3	17	1	2	0	1	0	1	0	4	0	3	0	3	0	6	2	3	0	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:68649617G>T	ENST00000315757.7	-	7	707	c.621C>A	c.(619-621)ggC>ggA	p.G207G	ITGA11_ENST00000423218.2_Silent_p.G207G|ITGA11_ENST00000562826.1_5'UTR	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	207	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CCACATCTTCGCCATACTGCA	0.507																																																	0													88	90	89					15																	68649617		2070	4205	6275	SO:0001819	synonymous_variant	0			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"Integrins"	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.621C>A	15.37:g.68649617G>T			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.G207	ENST00000315757.7	37	c.621	CCDS45291.1	15																																																																																			ITGA11	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000137809		0.507	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding			0	92	0	G	NM_012211		68649617	-1			no_errors	ENST00000315757	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.916	T	T	68649617	G	T	68649617	2	4	88	1	0	0	0	0	0	0	0	1	7901	1074	38	2		2	ITGA11	15	68649617	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	24542381	68649617	33881775	162	25311											
SNX33	257364	genome.wustl.edu	37	chr15	75942735	75942736	+	Frame_Shift_Ins	INS	-	-	C																															agtcattccttccagatggaINScccccccttttgctctgagg																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:75942735_75942736insC	ENST00000308527.5	+	1	2489_2490	c.1292_1293insC	c.(1291-1296)gaccccfs	p.DP431fs	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	431	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TTCCAGATGGACCCCCCCTTTT	0.569																																																	0																																										SO:0001589	frameshift_variant	0			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"SH3 and PX domain containing 3"	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.1299dupC	15.37:g.75942742_75942742dupC	ENSP00000311427:p.Asp431fs		B1NM17	Frame_Shift_Ins	INS	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.F434fs	ENST00000308527.5	37	c.1292_1293	CCDS10283.1	15																																																																																			SNX33	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000173548		0.569	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX33	HGNC	protein_coding	OTTHUMT00000286471.1		0	41	0	-	NM_153271		75942736	1	tier1		no_errors	ENST00000308527	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	1.000:1.000	C	C	75942736	-	C	75942735	7	5	88	1	0	1	1	0	0	0	0	0	14948	275	10	0	1294	0	SNX33	15	75942735	Frame_Shift_Ins	INS	-	TCGA-L5-A8NN-01A-11D-A37C-09	7293118	75942735	26588657	163	25312											
IREB2	3658	genome.wustl.edu	37	chr15	78732161	78732161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctttgagtaccttattgAaacattaaatgacagttcac	13	13	6	9	1	1	3	1	3	0	0	1	3	1	3	2	0	2	2	2	0	5	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr15:78732161A>G	ENST00000258886.8	+	2	193	c.44A>G	c.(43-45)gAa>gGa	p.E15G	IREB2_ENST00000560440.1_Missense_Mutation_p.E15G	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	15					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TACCTTATTGAAACATTAAAT	0.313																																					NSCLC(200;764 2208 35157 49871 50830)												0													116	100	106					15																	78732161		2195	4293	6488	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.44A>G	15.37:g.78732161A>G	ENSP00000258886:p.Glu15Gly		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.E15G	ENST00000258886.8	37	c.44	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274127	0.59649	.	.	ENSG00000136381	ENST00000258886	T	0.19105	2.17	4.92	4.92	0.64577	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.104145	0.64402	D	0.000004	T	0.29945	0.0749	L	0.54323	1.7	0.50171	D	0.999855	D;P	0.69078	0.997;0.721	P;B	0.52109	0.69;0.325	T	0.02868	-1.1100	10	0.52906	T	0.07	.	10.9826	0.47504	1.0:0.0:0.0:0.0	.	15;15	P48200;Q8WVK6	IREB2_HUMAN;.	G	15	ENSP00000258886:E15G	ENSP00000258886:E15G	E	+	2	0	IREB2	76519216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.474000	0.60203	1.845000	0.53610	0.383000	0.25322	GAA	IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba	ENSG00000136381		0.313	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0	59	0	A	NM_004136		78732161	1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	missense	42.55	27	20	SNP	1.000	G	G	78732161	A	G	78732161	3	3	88	1	0	0	0	0	1	0	0	0	7853	246	9	4	50	4	IREB2	15	78732161	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	2789426	78732161	23799231	164	25313											
PTX4	390667	genome.wustl.edu	37	chr16	1537710	1537710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctttcccgggcccgctGctggctcctctcgcccaggg	1	10	11	19	3	1	0	0	0	1	0	5	0	4	0	5	3	1	3	5	3	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:1537710G>T	ENST00000447419.2	-	2	428	c.403C>A	c.(403-405)Cag>Aag	p.Q135K	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.Q130K			Q96A99	PTX4_HUMAN	pentraxin 4, long	135						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CGGGCCCGCTGCTGGCTCCTC	0.706																																																	0													24	30	28					16																	1537710		2194	4286	6480	SO:0001583	missense	0				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"chromosome 16 open reading frame 38"	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.403C>A	16.37:g.1537710G>T	ENSP00000445277:p.Gln135Lys			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.Q135K	ENST00000447419.2	37	c.403		16	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432342	0.43224	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05649	3.56;3.41	5.12	4.17	0.49024	.	4.233140	0.00567	N	0.000293	T	0.13457	0.0326	L	0.50333	1.59	0.09310	N	1	P	0.51537	0.946	P	0.48840	0.592	T	0.34030	-0.9845	10	0.17369	T	0.5	.	11.4347	0.50062	0.0881:0.0:0.9119:0.0	.	130	Q96A99-2	.	K	135;130	ENSP00000445277:Q135K;ENSP00000293922:Q130K	ENSP00000293922:Q130K	Q	-	1	0	PTX4	1477711	0.298000	0.24417	0.003000	0.11579	0.004000	0.04260	3.556000	0.53734	1.173000	0.42796	0.655000	0.94253	CAG	PTX4	-	NULL	ENSG00000251692		0.706	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	-	0	78	0	G	NM_001013658		1537710	-1	tier1	-	no_errors	ENST00000447419	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.022	T	T	1537710	G	T	1537710	3	4	88	1	0	0	0	0	1	0	0	0	12868	1328	46	3	1040	3	PTX4	16	1537710	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		1537710	88817043	165	25314											
IFT140	9742	genome.wustl.edu	37	chr16	1634250	1634250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactccactgatgtgcatgtCggtgcgcaggctgtgtgcga	6	10	14	11	3	0	1	0	1	0	0	2	2	1	1	1	2	3	3	1	2	0	0	rs538562131		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:1634250C>T	ENST00000426508.2	-	11	1690	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	443					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ATGTGCATGTCGGTGCGCAGG	0.617																																																	0													46	38	41					16																	1634250		2199	4300	6499	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"Intraflagellar transport homologs", "WD repeat domain containing"	29077	protein-coding gene	gene with protein product		614620	"WD and tetratricopeptide repeats 2", "intraflagellar transport 140 homolog (Chlamydomonas)"	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1327G>A	16.37:g.1634250C>T	ENSP00000406012:p.Asp443Asn		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D443N	ENST00000426508.2	37	c.1327	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843969	0.32606	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.61158	0.13	5.51	4.56	0.56223	.	0.099620	0.64402	N	0.000002	T	0.72787	0.3504	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.61800	0.747;0.894	T	0.76780	-0.2833	10	0.62326	D	0.03	.	13.5045	0.61477	0.0:0.9248:0.0:0.0752	.	443;168	Q96RY7;B4DR58	IF140_HUMAN;.	N	443	ENSP00000406012:D443N	ENSP00000380562:D443N	D	-	1	0	IFT140	1574251	1.000000	0.71417	0.856000	0.33681	0.013000	0.08279	4.559000	0.60796	1.462000	0.47948	0.655000	0.94253	GAC	IFT140	-	NULL	ENSG00000187535		0.617	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	-	0	29	0	C	NM_014714		1634250	-1	tier1	-	no_errors	ENST00000426508	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.999	T	T	1634250	C	T	1634250	3	4	88	1	0	0	0	0	1	0	0	0	7583	884	31	1	3145	1	IFT140	16	1634250	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	96540	1634250	88720503	166	25315											
TSC2	7249	genome.wustl.edu	37	chr16	2103376	2103376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactctggaaggcggtcgcgGatctgttgcagccggagcgg	6	7	17	11	5	2	0	0	0	2	0	3	3	2	3	1	6	3	2	1	6	1	1	rs137854271		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:2103376G>T	ENST00000219476.3	+	4	889	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	TSC2_ENST00000350773.4_Missense_Mutation_p.D87Y|TSC2_ENST00000568454.1_Missense_Mutation_p.D98Y|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000401874.2_Missense_Mutation_p.D87Y|TSC2_ENST00000353929.4_Missense_Mutation_p.D87Y|TSC2_ENST00000382538.6_Missense_Mutation_p.D38Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	87	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGCGGTCGCGGATCTGTTGCA	0.687			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													18	18	18					16																	2103376		2189	4291	6480	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.259G>T	16.37:g.2103376G>T	ENSP00000219476:p.Asp87Tyr		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.D87Y	ENST00000219476.3	37	c.259	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	18.10	3.547382	0.65311	.	.	ENSG00000103197	ENST00000219476;ENST00000432909;ENST00000401874;ENST00000353929;ENST00000382538;ENST00000350773;ENST00000445113	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	4.79	4.79	0.61399	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92120	0.7502	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.96;1.0;1.0;0.999	D	0.91677	0.5355	10	0.38643	T	0.18	-27.4733	17.8319	0.88685	0.0:0.0:1.0:0.0	.	38;87;87;87;87	B4DIL8;B7Z2B8;P49815-4;P49815-5;P49815	.;.;.;.;TSC2_HUMAN	Y	87;38;87;87;38;87;98	ENSP00000219476:D87Y;ENSP00000384468:D87Y;ENSP00000248099:D87Y;ENSP00000371978:D38Y;ENSP00000344383:D87Y	ENSP00000219476:D87Y	D	+	1	0	TSC2	2043377	1.000000	0.71417	0.824000	0.32777	0.062000	0.15995	9.530000	0.98051	2.220000	0.72140	0.462000	0.41574	GAT	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold	ENSG00000103197		0.687	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	94	0	G	NM_000548		2103376	1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	40.00	24	16	SNP	1.000	T	T	2103376	G	T	2103376	3	4	88	1	0	0	0	0	1	0	0	0	16654	1174	41	3	269	3	TSC2	16	2103376	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	469126	2103376	88251377	167	25316											
CP110	9738	genome.wustl.edu	37	chr16	19556498	19556498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctattctacatcatgatcGagaagttcgcaaagagaaaa	16	10	8	7	2	3	3	1	1	2	2	5	5	3	3	0	0	1	2	0	0	6	4	rs142274455		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:19556498G>A	ENST00000381396.5	+	10	2916	c.2669G>A	c.(2668-2670)cGa>cAa	p.R890Q	CCP110_ENST00000396208.2_Missense_Mutation_p.R890Q|CCP110_ENST00000396212.2_Missense_Mutation_p.R890Q	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	890					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CATCATGATCGAGAAGTTCGC	0.373																																																	0								G	GLN/ARG,GLN/ARG	0,4392		0,0,2196	108	98	102		2669,2669	5.5	1	16	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	CCP110	NM_001199022.1,NM_014711.4	43,43	0,2,6494	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging	890/1013,890/992	19556498	2,12990	2196	4300	6496	SO:0001583	missense	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2669G>A	16.37:g.19556498G>A	ENSP00000370803:p.Arg890Gln		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.R890Q	ENST00000381396.5	37	c.2669	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.321074	0.95682	0.0	2.33E-4	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.67345	-0.25;-0.26;-0.25	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83644	0.5299	M	0.81942	2.565	0.52501	D	0.999956	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85431	0.1149	10	0.87932	D	0	-11.2185	19.4895	0.95044	0.0:0.0:1.0:0.0	.	890;890	O43303;O43303-2	CP110_HUMAN;.	Q	890	ENSP00000379515:R890Q;ENSP00000370803:R890Q;ENSP00000379511:R890Q	ENSP00000370803:R890Q	R	+	2	0	CCP110	19463999	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	7.619000	0.83057	2.596000	0.87737	0.655000	0.94253	CGA	CCP110	-	NULL	ENSG00000103540		0.373	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2		0	38	0	G	NM_014711		19556498	1			no_errors	ENST00000381396	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	19556498	G	A	19556498	3	1	88	1	0	0	0	0	1	0	0	0	3795	1058	37	1	2703	1	CP110	16	19556498	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	17453122	19556498	70798255	168	25317											
SLC5A2	6524	genome.wustl.edu	37	chr16	31500047	31500047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatggacatctacacgCgcctgcggccacgcgccggc	7	5	11	18	6	2	0	1	0	1	0	2	1	2	1	4	3	2	0	4	3	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:31500047C>T	ENST00000330498.3	+	10	1253	c.1234C>T	c.(1234-1236)Cgc>Tgc	p.R412C	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	412					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	CATCTACACGCGCCTGCGGCC	0.706																																																	0													21	19	19					16																	31500047		2193	4298	6491	SO:0001583	missense	0				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"Solute carriers"	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1234C>T	16.37:g.31500047C>T	ENSP00000327943:p.Arg412Cys		A2RRD2	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R412C	ENST00000330498.3	37	c.1234	CCDS10714.1	16	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717072	0.48622	.	.	ENSG00000140675	ENST00000330498	D	0.88509	-2.39	4.7	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	M	0.85777	2.775	0.80722	D	1	B	0.19935	0.04	B	0.19148	0.024	D	0.87335	0.2327	10	0.62326	D	0.03	.	9.4615	0.38787	0.314:0.686:0.0:0.0	.	412	P31639	SC5A2_HUMAN	C	412	ENSP00000327943:R412C	ENSP00000327943:R412C	R	+	1	0	SLC5A2	31407548	0.001000	0.12720	0.968000	0.41197	0.824000	0.46624	0.095000	0.15127	2.453000	0.82957	0.561000	0.74099	CGC	SLC5A2	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000140675		0.706	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	-	0	38	0	C			31500047	1	tier1	-	no_errors	ENST00000330498	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.810	T	T	31500047	C	T	31500047	3	4	88	1	0	0	0	0	1	0	0	0	14710	768	27	1	1272	1	SLC5A2	16	31500047	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	11943549	31500047	58854706	169	25318											
AHSP	51327	genome.wustl.edu	37	chr16	31539471	31539471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccaggcagatggctcttcTtaaggccaataaggatctca	12	9	9	11	0	3	1	1	0	3	1	4	2	3	2	2	4	0	2	2	4	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:31539471T>A	ENST00000302312.4	+	2	114	c.11T>A	c.(10-12)cTt>cAt	p.L4H	AHSP_ENST00000569954.1_Intron	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	4					hemoglobin metabolic process (GO:0020027)|hemopoiesis (GO:0030097)|protein folding (GO:0006457)|protein stabilization (GO:0050821)	hemoglobin complex (GO:0005833)	hemoglobin binding (GO:0030492)|unfolded protein binding (GO:0051082)			lung(2)	2						ATGGCTCTTCTTAAGGCCAAT	0.473																																																	0													114	111	112					16																	31539471		2197	4300	6497	SO:0001583	missense	0			AF208865	CCDS10716.1	16p11.1	2009-10-07	2009-10-07	2009-10-07	ENSG00000169877	ENSG00000169877			18075	protein-coding gene	gene with protein product	"alpha hemoglobin stabilising protein"	605821	"erythroid associated factor"	ERAF		11231637, 12066189	Standard	XM_005255352		Approved	EDRF	uc002ecj.3	Q9NZD4	OTTHUMG00000132461	ENST00000302312.4:c.11T>A	16.37:g.31539471T>A	ENSP00000307199:p.Leu4His		Q8TD01	Missense_Mutation	SNP	pfam_A_Hb_stabilising_prot,superfamily_A_Hb_stabilising_prot	p.L4H	ENST00000302312.4	37	c.11	CCDS10716.1	16	.	.	.	.	.	.	.	.	.	.	T	15.21	2.766564	0.49574	.	.	ENSG00000169877	ENST00000302312	T	0.70399	-0.48	5.47	5.47	0.80525	.	0.395325	0.21608	N	0.071837	T	0.71143	0.3305	L	0.27053	0.805	0.30345	N	0.78533	D	0.61697	0.99	P	0.58454	0.839	T	0.72207	-0.4360	10	0.87932	D	0	.	11.9337	0.52862	0.0:0.0:0.0:1.0	.	4	Q9NZD4	AHSP_HUMAN	H	4	ENSP00000307199:L4H	ENSP00000307199:L4H	L	+	2	0	AHSP	31446972	1.000000	0.71417	0.778000	0.31720	0.079000	0.17450	3.358000	0.52284	2.074000	0.62210	0.455000	0.32223	CTT	AHSP	-	superfamily_A_Hb_stabilising_prot	ENSG00000169877		0.473	AHSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSP	HGNC	protein_coding	OTTHUMT00000255624.1	-	0	43	0	T	NM_016633		31539471	1	tier1	-	no_errors	ENST00000302312	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.960	A	A	31539471	T	A	31539471	3	1	88	1	0	0	0	0	1	0	0	0	421	1609	56	5	13	5	AHSP	16	31539471	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	39424	31539471	58815282	170	25319											
LRRC36	55282	genome.wustl.edu	37	chr16	67380182	67380182	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagtatttatgttcactCcaagacctgaatttatatta	13	16	4	8	0	1	2	1	1	0	1	3	2	3	2	3	0	0	2	3	0	7	8			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:67380182C>A	ENST00000329956.6	+	3	241	c.222C>A	c.(220-222)ctC>ctA	p.L74L	LRRC36_ENST00000563303.1_3'UTR|LRRC36_ENST00000563189.1_5'Flank|LRRC36_ENST00000290940.7_5'Flank|LRRC36_ENST00000541146.1_5'Flank|LRRC36_ENST00000435835.3_5'Flank	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	74										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TATGTTCACTCCAAGACCTGA	0.358																																																	0													129	127	128					16																	67380182		2198	4300	6498	SO:0001819	synonymous_variant	0			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.222C>A	16.37:g.67380182C>A			A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	NULL	p.P32T	ENST00000329956.6	37	c.94	CCDS32467.1	16																																																																																			LRRC36	-	NULL	ENSG00000159708		0.358	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	-	0	81	0	C	NM_018296		67380182	1	tier1	-	no_errors	ENST00000570075	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	67380182	C	A	67380182	2	1	88	1	0	0	0	0	0	0	0	1	9025	842	30	3		3	LRRC36	16	67380182	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	35840711	67380182	22974571	171	25320											
SLC12A4	6560	genome.wustl.edu	37	chr16	67981292	67981292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagcgcgtagcgggcagCgctcagggacaggcctcgga	9	3	16	13	5	1	0	1	0	0	0	2	2	1	2	1	4	4	3	1	4	2	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr16:67981292C>T	ENST00000316341.3	-	16	2154	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T	SLC12A4_ENST00000422611.2_Missense_Mutation_p.A674T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A624T|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A641T|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A672T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A666T|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A672T	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	672					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAGCGGGCAGCGCTCAGGGAC	0.672																																																	0													42	52	49					16																	67981292		2195	4299	6494	SO:0001583	missense	0				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"Solute carriers"	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2014G>A	16.37:g.67981292C>T	ENSP00000318557:p.Ala672Thr		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.A674T	ENST00000316341.3	37	c.2020	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198863	0.79015	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	5.76	5.76	0.90799	Amino acid permease domain (1);	0.048935	0.85682	D	0.000000	D	0.96852	0.8972	N	0.25485	0.75	0.80722	D	1	P;P;D;B;B;P	0.58620	0.479;0.644;0.983;0.448;0.255;0.807	B;B;P;B;B;B	0.51999	0.175;0.217;0.687;0.137;0.112;0.411	D	0.95287	0.8391	10	0.13108	T	0.6	.	19.9738	0.97296	0.0:1.0:0.0:0.0	.	674;672;641;666;672;672	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	T	674;641;666;672;672	ENSP00000395983:A674T;ENSP00000438334:A641T;ENSP00000445962:A666T;ENSP00000343374:A672T;ENSP00000318557:A672T	ENSP00000318557:A672T	A	-	1	0	SLC12A4	66538793	1.000000	0.71417	0.493000	0.27502	0.339000	0.28857	7.768000	0.85345	2.732000	0.93576	0.655000	0.94253	GCT	SLC12A4	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.672	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	-	0	13	0	C	NM_005072		67981292	-1	tier1	-	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	T	T	67981292	C	T	67981292	3	4	88	1	0	0	0	0	1	0	0	0	14430	768	27	1	1279	1	SLC12A4	16	67981292	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	601110	67981292	22373461	172	25321											
MYH8	4626	genome.wustl.edu	37	chr17	10304048	10304048	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctccgctttggctcGggacgccctctctgcctcga	2	12	10	17	4	2	0	0	0	2	0	6	2	2	1	3	2	2	3	3	2	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:10304048G>T	ENST00000403437.2	-	27	3488	c.3394C>A	c.(3394-3396)Cga>Aga	p.R1132R	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1132					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTTGGCTCGGGACGCCCTC	0.557									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																								0													48	54	52					17																	10304048		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"Myosins / Myosin superfamily : Class II"	7578	protein-coding gene	gene with protein product		160741	"myosin, heavy polypeptide 8, skeletal muscle, perinatal"			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3394C>A	17.37:g.10304048G>T			Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1132	ENST00000403437.2	37	c.3394	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_tail	ENSG00000133020		0.557	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	-	0	63	0	G	NM_002472		10304048	-1	tier1	-	no_errors	ENST00000403437	ensembl	human	known	74_37	silent	58.62	24	34	SNP	1.000	T	T	10304048	G	T	10304048	2	4	88	1	0	0	0	0	0	0	0	1	10079	1124	39	2		2	MYH8	17	10304048	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		10304048	70891162	173	25322											
DNAH9	1770	genome.wustl.edu	37	chr17	11642318	11642318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacccaggctatgctggccGcacagagctgccagagaatc	11	5	12	13	1	0	2	0	0	0	2	1	4	0	2	3	2	4	4	3	2	3	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:11642318G>A	ENST00000262442.4	+	29	6004	c.5936G>A	c.(5935-5937)cGc>cAc	p.R1979H	AC005701.1_ENST00000584990.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.R1979H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1979	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGCTGGCCGCACAGAGCTG	0.478																																																	0													74	70	71					17																	11642318		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5936G>A	17.37:g.11642318G>A	ENSP00000262442:p.Arg1979His		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1979H	ENST00000262442.4	37	c.5936	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.137893	0.94517	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.15017	2.46;2.46	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.60495	0.2273	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73557	-0.3945	10	0.87932	D	0	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	1979	Q9NYC9	DYH9_HUMAN	H	1979;1979;561	ENSP00000262442:R1979H;ENSP00000414874:R1979H	ENSP00000262442:R1979H	R	+	2	0	DNAH9	11583043	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	9.670000	0.98625	2.807000	0.96579	0.591000	0.81541	CGC	DNAH9	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.478	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0	68	0	G	NM_001372		11642318	1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	11642318	G	A	11642318	3	1	88	1	0	0	0	0	1	0	0	0	4622	1087	38	1	6050	1	DNAH9	17	11642318	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	1338270	11642318	69552892	174	25323											
KCNJ12	3768	genome.wustl.edu	37	chr17	21318691	21318691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaacccctacagcatcGtgtcatcggaggaggacggg	9	5	15	12	3	1	0	1	0	0	0	3	3	1	3	3	5	3	1	3	5	2	1	rs556074330	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:21318691G>A	ENST00000583088.1	+	3	932	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V13M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	13					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CTACAGCATCGTGTCATCGGA	0.706										Prostate(3;0.18)																																							0													55	51	52					17																	21318691		2202	4299	6501	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6258	protein-coding gene	gene with protein product		602323	"potassium inwardly-rectifying channel, subfamily J, inhibitor 1"	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.37G>A	17.37:g.21318691G>A	ENSP00000463778:p.Val13Met		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.V13M	ENST00000583088.1	37	c.37	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471284	0.84533	.	.	ENSG00000184185	ENST00000331718	T	0.47177	0.85	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	T	0.69982	-0.4997	10	0.87932	D	0	.	18.6211	0.91321	0.0:0.0:1.0:0.0	.	13	Q14500	IRK12_HUMAN	M	13	ENSP00000328150:V13M	ENSP00000328150:V13M	V	+	1	0	KCNJ12	21259284	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.690000	0.98676	2.506000	0.84524	0.591000	0.81541	GTG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir_N	ENSG00000184185		0.706	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0	94	0	G	NM_021012		21318691	1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	missense	6.32	89	6	SNP	1.000	A	A	21318691	G	A	21318691	3	1	88	1	0	0	0	0	1	0	0	0	8073	1145	40	1	39	1	KCNJ12	17	21318691	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	9676373	21318691	59876519	175	25324											
KRT34	3885	genome.wustl.edu	37	chr17	39535268	39535268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacactccagccgggcaCgcacgtccagcagcacctgg	8	5	10	18	3	1	0	1	0	1	0	4	0	3	0	4	2	3	4	4	2	0	0	rs374681338		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:39535268C>T	ENST00000394001.1	-	6	1193	c.1163G>A	c.(1162-1164)cGt>cAt	p.R388H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	388	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CAGCCGGGCACGCACGTCCAG	0.577																																																	0								C	HIS/ARG	1,4405		0,1,2202	176	148	157		1163	3	0.2	17		157	0,8600		0,0,4300	no	missense	KRT34	NM_021013.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	388/437	39535268	1,13005	2203	4300	6503	SO:0001583	missense	0			Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"-", "Intermediate filaments type I, keratins (acidic)"	6452	protein-coding gene	gene with protein product	"hard keratin type I 4"	602763	"keratin, hair, acidic, 4"	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1163G>A	17.37:g.39535268C>T	ENSP00000377570:p.Arg388His		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R388H	ENST00000394001.1	37	c.1163	CCDS11390.1	17	.	.	.	.	.	.	.	.	.	.	N	15.69	2.907387	0.52333	2.27E-4	0.0	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.05	2.97	0.34412	Filament (1);	0.253257	0.28577	N	0.014846	T	0.59280	0.2182	M	0.72118	2.19	0.31107	N	0.710364	D	0.69078	0.997	D	0.65323	0.934	T	0.62426	-0.6857	9	0.87932	D	0	.	5.5094	0.16872	0.0:0.6037:0.0:0.3963	.	388	O76011	KRT34_HUMAN	H	346;388	.	ENSP00000251648:R388H	R	-	2	0	KRT34	36788794	0.634000	0.27190	0.229000	0.23960	0.155000	0.21991	1.711000	0.37930	1.195000	0.43115	0.650000	0.86243	CGT	KRT34	-	pfam_IF	ENSG00000131737		0.577	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT34	HGNC	protein_coding	OTTHUMT00000257304.3	-	0	104	0	C	NM_021013		39535268	-1	tier1	-	no_errors	ENST00000394001	ensembl	human	known	74_37	missense	47.22	57	51	SNP	0.979	T	T	39535268	C	T	39535268	3	4	88	1	0	0	0	0	1	0	0	0	8498	536	19	1	155	1	KRT34	17	39535268	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	18216577	39535268	41659942	176	25325											
DHX58	79132	genome.wustl.edu	37	chr17	40257821	40257821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcccggatgtccacaGtctgcaggccctgctgctgc	4	8	14	15	1	1	0	0	0	1	0	2	1	2	1	3	3	4	4	3	3	0	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:40257821G>T	ENST00000251642.3	-	9	1406	c.1184C>A	c.(1183-1185)aCt>aAt	p.T395N		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	395	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATGTCCACAGTCTGCAGGCC	0.632																																																	0													63	62	63					17																	40257821		2203	4300	6503	SO:0001583	missense	0			BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"RNA helicase LGP2"	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1184C>A	17.37:g.40257821G>T	ENSP00000251642:p.Thr395Asn		Q9HAM6	Missense_Mutation	SNP	pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T395N	ENST00000251642.3	37	c.1184	CCDS11416.1	17	.	.	.	.	.	.	.	.	.	.	G	3.846	-0.032829	0.07543	.	.	ENSG00000108771	ENST00000251642;ENST00000423748	T	0.42900	0.96	5.17	-0.743	0.11105	Helicase, C-terminal (2);	0.773311	0.11333	N	0.574823	T	0.17746	0.0426	N	0.12746	0.255	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.006	T	0.22277	-1.0221	10	0.16896	T	0.51	.	2.041	0.03550	0.2172:0.1081:0.4641:0.2105	.	388;395	B7Z455;Q96C10	.;DHX58_HUMAN	N	395;358	ENSP00000251642:T395N	ENSP00000251642:T395N	T	-	2	0	DHX58	37511347	0.000000	0.05858	0.144000	0.22314	0.101000	0.19017	-1.058000	0.03482	0.210000	0.20664	0.455000	0.32223	ACT	DHX58	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000108771		0.632	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX58	HGNC	protein_coding	OTTHUMT00000257396.1		0	20	0	G	NM_024119		40257821	-1			no_errors	ENST00000251642	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.002	T	T	40257821	G	T	40257821	3	4	88	1	0	0	0	0	1	0	0	0	4528	1029	36	3	876	3	DHX58	17	40257821	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	722553	40257821	40937389	177	25326											
ETV4	2118	genome.wustl.edu	37	chr17	41622356	41622356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcaccttcagcgagccaCgtctcctggaagtgacttag	9	10	9	13	2	3	1	2	1	1	0	4	3	3	2	3	1	3	0	3	1	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:41622356C>T	ENST00000319349.5	-	4	487	c.189G>A	c.(187-189)acG>acA	p.T63T	ETV4_ENST00000538265.1_Silent_p.T24T|RP11-392O1.4_ENST00000588996.1_RNA|ETV4_ENST00000545954.1_Silent_p.T24T|ETV4_ENST00000545089.1_Silent_p.T63T|ETV4_ENST00000393664.2_Silent_p.T63T|ETV4_ENST00000591713.1_Silent_p.T63T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	63	Asp/Glu-rich (acidic).				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CAGCGAGCCACGTCTCCTGGA	0.537			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"																																Esophageal Squamous(116;1540 1611 12927 31103 34118)			Dom	yes		17	17q21	2118	"ets variant gene 4 (E1A enhancer binding protein, E1AF)"		"M, E"	0													82	75	78					17																	41622356		2203	4300	6503	SO:0001819	synonymous_variant	0			U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"E1A enhancer binding protein"	600711	"ets variant gene 4 (E1A enhancer-binding protein, E1AF)"			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.189G>A	17.37:g.41622356C>T			A8K314|B7Z5J3|B7Z9J6|Q96AW9	Silent	SNP	pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom	p.T63	ENST00000319349.5	37	c.189	CCDS11465.1	17																																																																																			ETV4	-	pfam_ETS_PEA3_N	ENSG00000175832		0.537	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV4	HGNC	protein_coding	OTTHUMT00000453489.1	-	0	43	0	C	NM_001986		41622356	-1	tier1	-	no_errors	ENST00000319349	ensembl	human	known	74_37	silent	8.82	62	6	SNP	1.000	T	T	41622356	C	T	41622356	2	4	88	1	0	0	0	0	0	0	0	1	5297	523	19	1		1	ETV4	17	41622356	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1364535	41622356	39572854	178	25327											
FZD2	2535	genome.wustl.edu	37	chr17	42636197	42636197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccgcctgggccgtgccgGccgtcaagaccatcaccatc	6	6	12	17	4	2	1	2	0	0	1	3	1	2	1	7	3	1	0	7	3	1	0	rs530531830		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:42636197G>T	ENST00000315323.3	+	1	1273	c.1141G>T	c.(1141-1143)Gcc>Tcc	p.A381S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	381					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGCCGTGCCGGCCGTCAAGAC	0.677																																																	0													67	67	67					17																	42636197		2203	4299	6502	SO:0001583	missense	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"GPCR / Class F : Frizzled receptors"	4040	protein-coding gene	gene with protein product		600667	"frizzled (Drosophila) homolog 2", "frizzled homolog 2 (Drosophila)", "frizzled 2, seven transmembrane spanning receptor", "frizzled family receptor 2"			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1141G>T	17.37:g.42636197G>T	ENSP00000323901:p.Ala381Ser		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.A381S	ENST00000315323.3	37	c.1141	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	19.22	3.786552	0.70337	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.82081	-1.57	5.0	5.0	0.66597	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.89989	0.6875	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.88611	0.3156	10	0.31617	T	0.26	.	17.9002	0.88901	0.0:0.0:1.0:0.0	.	381	Q14332	FZD2_HUMAN	S	457;381	ENSP00000323901:A381S	ENSP00000323901:A381S	A	+	1	0	FZD2	39991723	1.000000	0.71417	0.968000	0.41197	0.969000	0.65631	9.860000	0.99555	2.291000	0.77112	0.561000	0.74099	GCC	FZD2	-	pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled	ENSG00000180340		0.677	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	-	0	34	0	G	NM_001466		42636197	1	tier1	-	no_errors	ENST00000315323	ensembl	human	known	74_37	missense	41.03	23	16	SNP	1.000	T	T	42636197	G	T	42636197	3	4	88	1	0	0	0	0	1	0	0	0	6154	1203	42	3	1143	3	FZD2	17	42636197	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	1013841	42636197	38559013	179	25328											
DLX3	1747	genome.wustl.edu	37	chr17	48069206	48069206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttgaacttggaacggCggttctggaaccagattttc	8	14	11	8	2	2	2	0	1	2	1	3	4	2	4	1	4	3	2	1	4	3	6	rs141606294		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:48069206C>T	ENST00000434704.2	-	3	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	DLX3_ENST00000512495.2_Missense_Mutation_p.R60H	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	180					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R180H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTTGGAACGGCGGTTCTGGAA	0.512																																																	1	Substitution - Missense(1)	large_intestine(1)											84	82	83					17																	48069206		2203	4300	6503	SO:0001583	missense	0				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.539G>A	17.37:g.48069206C>T	ENSP00000389870:p.Arg180His		B3KQL6	Missense_Mutation	SNP	pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.R180H	ENST00000434704.2	37	c.539	CCDS11556.1	17	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766140	0.69878	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.97553	-4.43;-4.42	4.38	4.38	0.52667	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98435	1.0584	10	0.56958	D	0.05	-21.9907	8.129	0.31016	0.0:0.8932:0.0:0.1068	.	180	O60479	DLX3_HUMAN	H	180;60	ENSP00000389870:R180H;ENSP00000449976:R60H	ENSP00000389870:R180H	R	-	2	0	DLX3	45424205	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.949000	0.56668	2.280000	0.76307	0.561000	0.74099	CGC	DLX3	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	ENSG00000064195		0.512	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	HGNC	protein_coding	OTTHUMT00000366307.1	-	0	29	0	C			48069206	-1	tier1	-	no_errors	ENST00000434704	ensembl	human	known	74_37	missense	34.04	31	16	SNP	1.000	T	T	48069206	C	T	48069206	3	4	88	1	0	0	0	0	1	0	0	0	4586	768	27	1	328	1	DLX3	17	48069206	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	5433009	48069206	33126004	180	25329											
C17orf71	55181	genome.wustl.edu	37	chr17	57288948	57288948	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcccacagtgcctaccaGtcaaatttgcctcataatta	12	11	6	12	0	2	0	2	0	0	0	2	0	2	0	4	1	3	0	4	1	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:57288948G>C	ENST00000543872.2	+	2	1800	c.1536G>C	c.(1534-1536)caG>caC	p.Q512H	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.Q512H|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.Q512H			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	512					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTGCCTACCAGTCAAATTTGC	0.418																																																	0													83	76	78					17																	57288948		2203	4300	6503	SO:0001583	missense	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1536G>C	17.37:g.57288948G>C	ENSP00000438748:p.Gln512His		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.Q512H	ENST00000543872.2	37	c.1536	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885001	0.72410	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.49139	0.79;0.79	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65575	0.2704	L	0.52759	1.655	0.80722	D	1	D	0.67145	0.996	D	0.79108	0.992	T	0.66256	-0.5969	10	0.87932	D	0	-11.5279	18.9389	0.92597	0.0:0.0:1.0:0.0	.	512	Q8ND04	SMG8_HUMAN	H	512	ENSP00000300917:Q512H;ENSP00000438748:Q512H	ENSP00000300917:Q512H	Q	+	3	2	SMG8	54643730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.757000	0.68766	2.705000	0.92388	0.655000	0.94253	CAG	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.418	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0	38	0	G	NM_018149		57288948	1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	missense	12.96	47	7	SNP	1.000	C	C	57288948	G	C	57288948	3	2	88	1	0	0	0	0	1	0	0	0	1884	1020	36	5	1538	5	C17orf71	17	57288948	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	9219742	57288948	23906262	181	25330											
METRNL	284207	genome.wustl.edu	37	chr17	81052284	81052284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtacagggatgcccaggaGagggggctgaacccttgtga	10	7	16	8	0	0	3	0	2	0	1	0	5	0	4	2	4	3	2	2	4	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr17:81052284G>A	ENST00000320095.7	+	4	1025	c.900G>A	c.(898-900)gaG>gaA	p.E300E	METRNL_ENST00000571814.1_Silent_p.E218E|METRNL_ENST00000570778.1_Silent_p.E218E	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	300					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ATGCCCAGGAGAGGGGGCTGA	0.652																																																	0													26	27	27					17																	81052284		2193	4289	6482	SO:0001819	synonymous_variant	0			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.900G>A	17.37:g.81052284G>A			B3KSJ5|Q86VM0	Silent	SNP	NULL	p.E300	ENST00000320095.7	37	c.900	CCDS32779.1	17																																																																																			METRNL	-	NULL	ENSG00000176845		0.652	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METRNL	HGNC	protein_coding	OTTHUMT00000438902.1	-	0	133	0	G	NM_001004431		81052284	1	tier1	-	no_errors	ENST00000320095	ensembl	human	known	74_37	silent	36.60	97	56	SNP	0.011	A	A	81052284	G	A	81052284	2	1	88	1	0	0	0	0	0	0	0	1	9527	933	33	3		3	METRNL	17	81052284	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	23763336	81052284	142926	182	25331											
TGIF1	7050	genome.wustl.edu	37	chr18	3452189	3452189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtcctccctggcgacccCctctgcgctcctggggtcct	1	10	12	18	2	1	0	0	0	1	0	5	1	5	0	6	4	1	1	6	4	0	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr18:3452189C>T	ENST00000330513.5	+	1	515	c.212C>T	c.(211-213)cCc>cTc	p.P71L	TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000577543.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	71					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				CTGGCGACCCCCTCTGCGCTC	0.736																																																	0													27	29	28					18																	3452189		2202	4299	6501	SO:0001583	missense	0			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"Homeoboxes / TALE class"	11776	protein-coding gene	gene with protein product		602630	"TGFB-induced factor (TALE family homeobox)"	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.212C>T	18.37:g.3452189C>T	ENSP00000327959:p.Pro71Leu		A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P71L	ENST00000330513.5	37	c.212	CCDS11834.1	18	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471009	0.43942	.	.	ENSG00000177426	ENST00000330513	T	0.52754	0.65	1.27	0.384	0.16244	.	16.274500	0.01025	U	0.004041	T	0.33789	0.0875	N	0.22421	0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.21280	-1.0250	10	0.51188	T	0.08	.	3.5812	0.07954	0.0:0.7403:0.0:0.2597	.	71	Q15583	TGIF1_HUMAN	L	71	ENSP00000327959:P71L	ENSP00000327959:P71L	P	+	2	0	TGIF1	3442189	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.550000	0.23345	0.136000	0.18733	0.561000	0.74099	CCC	TGIF1	-	NULL	ENSG00000177426		0.736	TGIF1-003	KNOWN	basic|CCDS	protein_coding	TGIF1	HGNC	protein_coding	OTTHUMT00000254368.4	-	0	63	0	C	NM_170695		3452189	1	tier1	-	no_errors	ENST00000330513	ensembl	human	known	74_37	missense	47.62	44	40	SNP	0.000	T	T	3452189	C	T	3452189	3	4	88	1	0	0	0	0	1	0	0	0	15872	623	22	3	296	3	TGIF1	18	3452189	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		3452189	74625059	183	25332											
ASXL3	80816	genome.wustl.edu	37	chr18	31326085	31326085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttttgaggaaggtttaagCagcagctgtgaactgggcat	10	12	13	6	0	1	2	0	2	1	0	1	3	1	3	0	3	4	5	0	3	3	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr18:31326085C>T	ENST00000269197.5	+	12	6273	c.6273C>T	c.(6271-6273)agC>agT	p.S2091S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	2091					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGGTTTAAGCAGCAGCTGTG	0.413																																																	0													99	99	99					18																	31326085		1862	4104	5966	SO:0001819	synonymous_variant	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.6273C>T	18.37:g.31326085C>T			Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	superfamily_Znf_FYVE_PHD	p.S2091	ENST00000269197.5	37	c.6273	CCDS45847.1	18																																																																																			ASXL3	-	NULL	ENSG00000141431		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2		0	29	0	C			31326085	1			no_errors	ENST00000269197	ensembl	human	known	74_37	silent	9.68	28	3	SNP	1.000	T	T	31326085	C	T	31326085	2	4	88	1	0	0	0	0	0	0	0	1	1069	709	25	3		3	ASXL3	18	31326085	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	27873896	31326085	46751163	184	25333											
MUC16	94025	genome.wustl.edu	37	chr19	9070725	9070725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggataccctgtgatgtaGccccaggagtagttgtttga	10	11	13	7	0	0	2	0	2	0	0	0	5	0	4	3	2	2	4	3	2	4	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:9070725G>T	ENST00000397910.4	-	3	16924	c.16721C>A	c.(16720-16722)gCt>gAt	p.A5574D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5576	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGATGTAGCCCCAGGAGT	0.517																																																	0													236	219	225					19																	9070725		2030	4179	6209	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16721C>A	19.37:g.9070725G>T	ENSP00000381008:p.Ala5574Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A5574D	ENST00000397910.4	37	c.16721	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.314	0.057569	0.08339	.	.	ENSG00000181143	ENST00000397910	T	0.02812	4.15	1.67	0.527	0.17084	.	.	.	.	.	T	0.02230	0.0069	N	0.24115	0.695	.	.	.	B	0.20459	0.045	B	0.10450	0.005	T	0.32268	-0.9913	8	0.87932	D	0	.	5.1167	0.14838	0.0:0.0:0.6544:0.3456	.	5574	B5ME49	.	D	5574	ENSP00000381008:A5574D	ENSP00000381008:A5574D	A	-	2	0	MUC16	8931725	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.161000	0.10026	0.242000	0.21303	0.299000	0.19835	GCT	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	65	0	G	NM_024690		9070725	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.001	T	T	9070725	G	T	9070725	3	4	88	1	0	0	0	0	1	0	0	0	10011	971	34	3	27130	3	MUC16	19	9070725	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		9070725	50058258	185	25334											
ILF3	3609	genome.wustl.edu	37	chr19	10790493	10790493	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctcttccctttcagcCtctcgagctcctgtgtgaga	4	14	8	15	1	3	1	1	1	2	1	7	3	6	1	4	0	2	1	4	0	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:10790493C>T	ENST00000590261.1	+	7	749	c.749C>T	c.(748-750)cCt>cTt	p.P250L	ILF3_ENST00000592763.1_Splice_Site_p.P250L|ILF3_ENST00000589998.1_Splice_Site_p.P250L|ILF3_ENST00000407004.3_Splice_Site_p.P250L|ILF3_ENST00000588657.1_Splice_Site_p.P250L|ILF3_ENST00000318511.3_Splice_Site_p.P250L|ILF3_ENST00000420083.1_Splice_Site_p.P250L|ILF3_ENST00000449870.1_Splice_Site_p.P250L|ILF3_ENST00000250241.8_Splice_Site_p.P250L			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	250	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCCTTTCAGCCTCTCGAGCTC	0.647																																																	0													74	74	74					19																	10790493		2203	4300	6503	SO:0001630	splice_region_variant	0			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"M-phase phosphoprotein 4"	603182	"interleukin enhancer binding factor 3, 90kD"			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.748-1C>T	19.37:g.10790493C>T			A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.P250L	ENST00000590261.1	37	c.749	CCDS12246.1	19	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971322	0.74246	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.73	4.73	0.59995	DZF (2);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.998;1.0;0.984;0.975;1.0	P;D;D;D;P;D	0.91635	0.891;0.961;0.999;0.933;0.736;0.999	T	0.64859	-0.6308	10	0.87932	D	0	.	17.0149	0.86415	0.0:1.0:0.0:0.0	.	250;250;250;250;250;250	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	L	250	ENSP00000404121:P250L;ENSP00000315205:P250L;ENSP00000405436:P250L;ENSP00000384660:P250L;ENSP00000250241:P250L	ENSP00000250241:P250L	P	+	2	0	ILF3	10651493	1.000000	0.71417	0.977000	0.42913	0.740000	0.42216	7.578000	0.82498	2.613000	0.88420	0.650000	0.86243	CCT	ILF3	-	pfam_DZF,smart_DZF	ENSG00000129351		0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF3	HGNC	protein_coding	OTTHUMT00000452074.1	-	0	47	0	C		Missense_Mutation	10790493	1	tier1	-	no_errors	ENST00000449870	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	10790493	C	T	10790493	5	4	88	1	0	0	0	0	0	0	1	0	7739	695	24	3	775	3	ILF3	19	10790493	Splice_Site	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1719768	10790493	48338490	186	25335											
NPHS1	4868	genome.wustl.edu	37	chr19	36332627	36332627	+	Frame_Shift_Del	DEL	A	A	-																															ccctccatactgatgctgacAagttgaatgttggtttggtc																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:36332627delA	ENST00000378910.5	-	20	2804	c.2805delT	c.(2803-2805)cttfs	p.L935fs	NPHS1_ENST00000353632.6_Frame_Shift_Del_p.L935fs	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	935	Ig-like C2-type 8.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGATGCTGACAAGTTGAATGT	0.587																																																	0													157	119	132					19																	36332627		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2805delT	19.37:g.36332627delA	ENSP00000368190:p.Leu935fs		A6NDH2|C3RX61	Frame_Shift_Del	DEL	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V936fs	ENST00000378910.5	37	c.2805	CCDS32996.1	19																																																																																			NPHS1	-	superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000161270		0.587	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1		0	45	0	A			36332627	-1	tier1		no_errors	ENST00000378910	ensembl	human	known	74_37	frame_shift_del	12.50	70	10	DEL	1.000	-	-	36332627	A	-	36332627	7	5	88	1	0	1	0	1	0	0	0	0	10621	117	5	0	960	0	NPHS1	19	36332627	Frame_Shift_Del	DEL	A	TCGA-L5-A8NN-01A-11D-A37C-09	25542134	36332627	22796356	187	25336											
CYP2S1	29785	genome.wustl.edu	37	chr19	41704729	41704729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaggtgcagcagcaccaggGgaacctggatgcttcgggcc	8	5	16	12	1	0	0	0	0	0	0	1	2	0	2	3	5	5	5	3	5	1	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:41704729G>A	ENST00000310054.4	+	5	986	c.770G>A	c.(769-771)gGg>gAg	p.G257E	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	257					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAGCACCAGGGGAACCTGGAT	0.652																																																	0													61	59	60					19																	41704729		2203	4300	6503	SO:0001583	missense	0			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"Cytochrome P450s"	15654	protein-coding gene	gene with protein product		611529	"cytochrome P450, subfamily IIS, polypeptide 1"			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.770G>A	19.37:g.41704729G>A	ENSP00000308032:p.Gly257Glu		Q9BZ66	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.G257E	ENST00000310054.4	37	c.770	CCDS12573.1	19	.	.	.	.	.	.	.	.	.	.	g	2.741	-0.262119	0.05791	.	.	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.64260	-0.09	5.28	-4.99	0.03010	.	0.431409	0.22355	N	0.061146	T	0.19725	0.0474	N	0.01297	-0.9	0.19300	N	0.999974	B	0.02656	0.0	B	0.08055	0.003	T	0.43734	-0.9373	10	0.02654	T	1	.	6.8478	0.23998	0.583:0.2544:0.1626:0.0	.	257	Q96SQ9	CP2S1_HUMAN	E	257	ENSP00000308032:G257E	ENSP00000301173:G257E	G	+	2	0	CYP2S1	46396569	0.000000	0.05858	0.002000	0.10522	0.311000	0.27955	-0.959000	0.03853	-0.378000	0.07918	-0.477000	0.04895	GGG	CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000167600		0.652	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	-	0	50	0	G			41704729	1	tier1	-	no_errors	ENST00000310054	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.025	A	A	41704729	G	A	41704729	3	1	88	1	0	0	0	0	1	0	0	0	4183	1232	43	3	788	3	CYP2S1	19	41704729	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	5372102	41704729	17424254	188	25337											
ZNF285	26974	genome.wustl.edu	37	chr19	44890839	44890839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacattaagatctgaattcCggctgaagcctttaccacac	13	10	7	11	1	1	3	0	2	1	1	2	4	2	3	3	1	3	1	3	1	5	4	rs372788610		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:44890839C>T	ENST00000330997.4	-	4	1632	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.R523Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.R530Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ATCTGAATTCCGGCTGAAGCC	0.413																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	93	95	94		1568	0.1	0.1	19		94	0,8600		0,0,4300	no	missense	ZNF285	NM_152354.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		523/591	44890839	1,13005	2203	4300	6503	SO:0001583	missense	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"Zinc fingers, C2H2-type", "-"	13079	protein-coding gene	gene with protein product			"zinc finger protein 285A"	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1568G>A	19.37:g.44890839C>T	ENSP00000333595:p.Arg523Gln		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R523Q	ENST00000330997.4	37	c.1568	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222400	0.06061	2.27E-4	0.0	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.07444	3.19	3.6	0.128	0.14733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	N	0.01250	-0.93	0.09310	N	1	B;B	0.18968	0.032;0.032	B;B	0.04013	0.001;0.001	T	0.45220	-0.9276	9	0.02654	T	1	.	7.171	0.25719	0.0:0.4674:0.0:0.5326	.	547;523	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	546;523	ENSP00000333595:R523Q	ENSP00000333595:R523Q	R	-	2	0	ZNF285	49582679	0.000000	0.05858	0.084000	0.20598	0.982000	0.71751	-2.096000	0.01349	-0.101000	0.12219	0.454000	0.30748	CGG	ZNF285	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0	63	0	C	NM_152354		44890839	-1	tier1	-	no_errors	ENST00000330997	ensembl	human	known	74_37	missense	46.60	55	48	SNP	0.000	T	T	44890839	C	T	44890839	3	4	88	1	0	0	0	0	1	0	0	0	17870	652	23	1	208	1	ZNF285	19	44890839	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	3186110	44890839	14238144	189	25338											
CA11	770	genome.wustl.edu	37	chr19	49142863	49142863	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggcgactgaggaatgggtTagaggtactggcaacctgtg	10	8	17	6	1	0	2	0	1	0	1	0	5	0	3	1	5	2	3	1	5	4	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:49142863T>G	ENST00000084798.4	-	6	1262	c.583A>C	c.(583-585)Aac>Cac	p.N195H	SEC1P_ENST00000430145.2_RNA|DBP_ENST00000601104.1_5'Flank|DBP_ENST00000222122.5_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	195						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AGGAATGGGTTAGAGGTACTG	0.607																																																	0													172	144	153					19																	49142863		2203	4300	6503	SO:0001583	missense	0			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"Carbonic anhydrases"	1370	protein-coding gene	gene with protein product	"CA-RP XI", "carbonic anhydrase-related protein XI", "carbonic anhydrase-related protein 2"	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.583A>C	19.37:g.49142863T>G	ENSP00000084798:p.Asn195His		O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.N195H	ENST00000084798.4	37	c.583	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870715	0.51695	.	.	ENSG00000063180	ENST00000084798	T	0.68181	-0.31	3.62	3.62	0.41486	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.70753	0.3260	L	0.37630	1.12	0.51012	D	0.999901	D	0.76494	0.999	D	0.76071	0.987	T	0.72577	-0.4251	10	0.87932	D	0	.	8.8201	0.35020	0.0:0.0:0.0:1.0	.	195	O75493	CAH11_HUMAN	H	195	ENSP00000084798:N195H	ENSP00000084798:N195H	N	-	1	0	CA11	53834675	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	5.983000	0.70540	1.668000	0.50843	0.374000	0.22700	AAC	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.607	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	-	0	54	0	T	NM_001217		49142863	-1	tier1	-	no_errors	ENST00000084798	ensembl	human	known	74_37	missense	9.09	50	5	SNP	0.999	G	G	49142863	T	G	49142863	3	3	88	1	0	0	0	0	1	0	0	0	2519	1754	61	4	419	4	CA11	19	49142863	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	4252024	49142863	9986120	190	25339											
TMC4	147798	genome.wustl.edu	37	chr19	54666449	54666449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgactgccaagacagtcaGcagatcaaagagcagaagtt	15	5	11	10	2	2	4	2	0	0	4	2	5	2	4	1	0	3	3	1	0	3	1			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:54666449G>T	ENST00000376591.4	-	10	1608	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.L75M|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Missense_Mutation_p.L487M	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	493					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGACAGTCAGCAGATCAAAG	0.567																																																	0													49	52	51					19																	54666449		2203	4300	6503	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1477C>A	19.37:g.54666449G>T	ENSP00000365776:p.Leu493Met		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.L487M	ENST00000376591.4	37	c.1459	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686390	0.47991	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.68025	-0.3;-0.3;-0.3	4.71	1.38	0.22167	.	0.071260	0.64402	D	0.000019	T	0.75997	0.3926	M	0.66560	2.04	0.47374	D	0.999404	D;D;D	0.89917	1.0;0.982;0.983	D;D;P	0.97110	1.0;0.922;0.885	T	0.73244	-0.4044	10	0.49607	T	0.09	-9.6793	9.332	0.38027	0.2482:0.0:0.7518:0.0	.	493;487;75	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	M	487;75;493	ENSP00000301187:L487M;ENSP00000405023:L75M;ENSP00000365776:L493M	ENSP00000301187:L487M	L	-	1	2	TMC4	59358261	1.000000	0.71417	0.979000	0.43373	0.487000	0.33371	2.051000	0.41307	0.278000	0.22164	-0.229000	0.12294	CTG	TMC4	-	pfam_TMC	ENSG00000167608		0.567	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	-	0	65	0	G			54666449	-1	tier1	-	no_errors	ENST00000301187	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T	T	54666449	G	T	54666449	3	4	88	1	0	0	0	0	1	0	0	0	16034	962	34	3	685	3	TMC4	19	54666449	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	5523586	54666449	4462534	191	25340											
LENG8	114823	genome.wustl.edu	37	chr19	54969281	54969281	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgcctctgccttccaGggtgaccatgaagagtttaa	8	11	11	11	1	1	3	0	2	1	1	3	3	2	3	4	2	2	1	4	2	2	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:54969281G>T	ENST00000326764.5	+	14	2381		c.e14-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8											breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CTGCCTTCCAGGGTGACCATG	0.617																																																	0													98	95	96					19																	54969281		2203	4300	6503	SO:0001630	splice_region_variant	0			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1903-1G>T	19.37:g.54969281G>T			B0VJY9|Q8IZ27|Q8NCX6	Splice_Site	SNP	-	e13-1	ENST00000326764.5	37	c.1903-1	CCDS12894.1	19	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501265	0.64298	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LENG8	59661093	1.000000	0.71417	0.998000	0.56505	0.704000	0.40688	8.634000	0.91002	2.582000	0.87167	0.561000	0.74099	.	LENG8	-	-	ENSG00000167615		0.617	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2		0	22	0	G	NM_052925	Intron	54969281	1			no_errors	ENST00000326764	ensembl	human	known	74_37	splice_site	8.00	23	2	SNP	1.000	T	T	54969281	G	T	54969281	5	4	88	1	0	0	0	0	0	0	1	0	8752	1014	35	3	1952	3	LENG8	19	54969281	Splice_Site	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	302832	54969281	4159702	192	25341											
KIR2DL3	3804	genome.wustl.edu	37	chr19	55258792	55258792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctcgtgttctaggaaacCcttcaaatagttggccttca	9	14	8	10	1	4	0	2	0	2	0	5	1	4	1	2	2	1	2	2	2	4	6	rs72487164		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr19:55258792C>T	ENST00000342376.3	+	5	701	c.670C>T	c.(670-672)Cct>Tct	p.P224S	CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	224					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCTAGGAAACCCTTCAAATAG	0.483																																																	0													111	93	100					19																	55258792		1481	2640	4121	SO:0001583	missense	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.670C>T	19.37:g.55258792C>T	ENSP00000342215:p.Pro224Ser		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.P224S	ENST00000342376.3	37	c.670	CCDS33107.1	19	.	.	.	.	.	.	.	.	.	.	c	0.288	-0.982046	0.02197	.	.	ENSG00000243772	ENST00000342376	T	0.00493	7.0	0.736	-0.419	0.12340	.	.	.	.	.	T	0.00328	0.0010	N	0.21373	0.66	0.09310	N	0.999999	B;B;B;B;B	0.13594	0.004;0.008;0.005;0.001;0.001	B;B;B;B;B	0.08055	0.001;0.002;0.003;0.001;0.001	T	0.46665	-0.9175	9	0.51188	T	0.08	.	4.9768	0.14144	0.0:0.393:0.0:0.607	.	224;224;126;224;224	E3NZD7;P43627;P43628-2;P43628;E3NZD8	.;KI2L2_HUMAN;.;KI2L3_HUMAN;.	S	224	ENSP00000342215:P224S	ENSP00000342215:P224S	P	+	1	0	KIR2DL3	59950604	0.009000	0.17119	0.039000	0.18376	0.003000	0.03518	-0.235000	0.09016	-2.059000	0.00894	-2.819000	0.00109	CCT	KIR2DL3	-	NULL	ENSG00000243772		0.483	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	-	0	197	0	C			55258792	1	tier1	rs72487164	no_errors	ENST00000342376	ensembl	human	known	74_37	missense	43.20	95	73	SNP	0.070	T	T	55258792	C	T	55258792	3	4	88	1	0	0	0	0	1	0	0	0	8344	623	22	3	688	3	KIR2DL3	19	55258792	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	289511	55258792	3870191	193	25342											
KIF3B	9371	genome.wustl.edu	37	chr20	30898258	30898258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttatcactattgagtgcagCgaggtgggcctcgatggtga	8	11	15	7	2	1	2	1	2	0	0	2	4	1	2	1	3	2	2	1	3	2	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:30898258C>T	ENST00000375712.3	+	2	845	c.678C>T	c.(676-678)agC>agT	p.S226S	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	226	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGAGTGCAGCGAGGTGGGCC	0.522																																																	0													56	50	52					20																	30898258		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.678C>T	20.37:g.30898258C>T			B2RMP4|B4DSR5|E1P5M5	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S226	ENST00000375712.3	37	c.678	CCDS13200.1	20																																																																																			KIF3B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000101350		0.522	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	-	0	24	0	C	NM_004798		30898258	1	tier1	-	no_errors	ENST00000375712	ensembl	human	known	74_37	silent	32.08	36	17	SNP	0.988	T	T	30898258	C	T	30898258	2	4	88	1	0	0	0	0	0	0	0	1	8328	767	27	1		1	KIF3B	20	30898258	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		30898258	32127262	194	25343											
HNF4A	3172	genome.wustl.edu	37	chr20	43043180	43043180	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgggatcaacggcgacAttcgggcgaagaagattgcc	10	7	13	11	5	2	2	1	0	1	2	4	5	2	3	2	3	2	0	2	3	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:43043180A>C	ENST00000316099.4	+	5	615	c.526A>C	c.(526-528)Att>Ctt	p.I176L	HNF4A_ENST00000415691.2_Missense_Mutation_p.I176L|HNF4A_ENST00000457232.1_Missense_Mutation_p.I154L|HNF4A_ENST00000609795.1_Missense_Mutation_p.I154L|HNF4A_ENST00000316673.4_Missense_Mutation_p.I154L|HNF4A_ENST00000443598.2_Missense_Mutation_p.I176L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	176					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAACGGCGACATTCGGGCGAA	0.572																																					Colon(79;2 1269 8820 14841 52347)												0													100	84	89					20																	43043180		2203	4300	6503	SO:0001583	missense	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.526A>C	20.37:g.43043180A>C	ENSP00000312987:p.Ile176Leu		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.I176L	ENST00000316099.4	37	c.526	CCDS13330.1	20	.	.	.	.	.	.	.	.	.	.	A	5.028	0.190877	0.09547	.	.	ENSG00000101076	ENST00000316673;ENST00000457232;ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34	5.64	5.64	0.86602	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.118121	0.53938	U	0.000041	D	0.85358	0.5678	N	0.10874	0.06	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.10450	0.005;0.003;0.002;0.003;0.003;0.002;0.003	T	0.81075	-0.1097	10	0.11182	T	0.66	.	15.8542	0.78965	1.0:0.0:0.0:0.0	.	169;176;176;176;154;154;154	Q5QPB7;P41235;F1D8S2;P41235-3;F1D8T0;P41235-6;P41235-7	.;HNF4A_HUMAN;.;.;.;.;.	L	154;154;176;176;206;176	ENSP00000315180:I154L;ENSP00000396216:I154L;ENSP00000312987:I176L;ENSP00000410911:I176L;ENSP00000412111:I176L	ENSP00000312987:I176L	I	+	1	0	HNF4A	42476594	1.000000	0.71417	0.981000	0.43875	0.265000	0.26407	5.123000	0.64703	2.144000	0.66660	0.460000	0.39030	ATT	HNF4A	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000101076		0.572	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3		0	21	0	A			43043180	1			no_errors	ENST00000316099	ensembl	human	known	74_37	missense	8.96	61	6	SNP	1.000	C	C	43043180	A	C	43043180	3	2	88	1	0	0	0	0	1	0	0	0	7280	217	8	4	597	4	HNF4A	20	43043180	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	12144922	43043180	19982340	195	25344											
SEMG2	6407	genome.wustl.edu	37	chr20	43851148	43851148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatcatacccgtcttcacGtacagaagaaagacaacttc	16	9	5	11	2	3	3	2	0	1	3	4	3	3	3	1	0	3	1	1	0	7	5	rs145586123	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:43851148G>A	ENST00000372769.3	+	2	965	c.875G>A	c.(874-876)cGt>cAt	p.R292H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCGTCTTCACGTACAGAAGAA	0.398																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)						G	HIS/ARG	0,4406	2.1+/-5.4	0,0,2203	94	88	90		875	-0.9	0	20	dbSNP_134	90	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SEMG2	NM_003008.2	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	292/583	43851148	4,13002	2203	4300	6503	SO:0001583	missense	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"Semenogelin 2"	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.875G>A	20.37:g.43851148G>A	ENSP00000361855:p.Arg292His		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	pfam_Semenogelin	p.R292H	ENST00000372769.3	37	c.875	CCDS13346.1	20	.	.	.	.	.	.	.	.	.	.	G	5.553	0.286965	0.10513	0.0	4.65E-4	ENSG00000124157	ENST00000372769	T	0.06449	3.3	1.28	-0.886	0.10590	.	.	.	.	.	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.005;0.01;0.01	B;B;B	0.12156	0.007;0.007;0.007	T	0.42224	-0.9464	9	0.48119	T	0.1	.	4.015	0.09639	0.4624:0.0:0.5376:0.0	.	292;292;292	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	H	292	ENSP00000361855:R292H	ENSP00000361855:R292H	R	+	2	0	SEMG2	43284562	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.964000	0.03833	-0.275000	0.09219	-0.194000	0.12790	CGT	SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.398	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1	-	0	17	0	G	NM_003008		43851148	1	tier1	rs145586123	no_errors	ENST00000372769	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.000	A	A	43851148	G	A	43851148	3	1	88	1	0	0	0	0	1	0	0	0	14090	1145	40	1	881	1	SEMG2	20	43851148	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	807968	43851148	19174372	196	25345											
WFDC9	259240	genome.wustl.edu	37	chr20	44237432	44237432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacccagcactgctcagtttCtcttatcatatctagaactg	10	14	5	12	0	4	1	2	0	2	1	5	1	4	1	1	0	4	3	1	0	5	5			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:44237432C>T	ENST00000326000.1	-	4	326	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	37						extracellular region (GO:0005576)				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TGCTCAGTTTCTCTTATCATA	0.403																																																	0													117	103	108					20																	44237432		2203	4300	6503	SO:0001583	missense	0			AL031671	CCDS13362.1	20q13.12	2013-01-21			ENSG00000180205	ENSG00000180205		"WAP four-disulfide core domain containing"	20380	protein-coding gene	gene with protein product						12206714	Standard	NM_147198		Approved	WAP9, dJ688G8.2	uc002xoy.3	Q8NEX5	OTTHUMG00000046332	ENST00000326000.1:c.109G>A	20.37:g.44237432C>T	ENSP00000320532:p.Glu37Lys		Q3MIX6|Q5TGZ8	Missense_Mutation	SNP	NULL	p.E37K	ENST00000326000.1	37	c.109	CCDS13362.1	20	.	.	.	.	.	.	.	.	.	.	C	7.654	0.683569	0.14907	.	.	ENSG00000180205	ENST00000326000	T	0.34859	1.34	3.73	2.79	0.32731	.	0.766950	0.11079	N	0.602008	T	0.31199	0.0789	.	.	.	0.09310	N	1	B	0.30634	0.288	B	0.37943	0.261	T	0.29243	-1.0018	9	0.30078	T	0.28	-6.1154	9.7637	0.40548	0.0:0.7926:0.2074:0.0	.	37	Q8NEX5	WFDC9_HUMAN	K	37	ENSP00000320532:E37K	ENSP00000320532:E37K	E	-	1	0	WFDC9	43670846	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.150000	0.16263	1.158000	0.42547	-0.150000	0.13652	GAA	WFDC9	-	NULL	ENSG00000180205		0.403	WFDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC9	HGNC	protein_coding	OTTHUMT00000106945.1	-	0	46	0	C			44237432	-1	tier1	-	no_errors	ENST00000326000	ensembl	human	known	74_37	missense	23.08	70	21	SNP	0.002	T	T	44237432	C	T	44237432	3	4	88	1	0	0	0	0	1	0	0	0	17406	922	32	3	168	3	WFDC9	20	44237432	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	386284	44237432	18788088	197	25346											
UCKL1	54963	genome.wustl.edu	37	chr20	62572380	62572380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagaagatgaactcgtcgcGactggtctccttgtccctgt	7	12	11	11	3	1	3	0	1	1	2	5	4	2	3	2	1	1	1	2	1	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr20:62572380G>A	ENST00000354216.6	-	10	1081	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	MIR1914_ENST00000607800.1_RNA|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369908.5_Missense_Mutation_p.R332C|UCKL1_ENST00000358711.3_Missense_Mutation_p.S363L|UCKL1_ENST00000369892.3_Missense_Mutation_p.R347C	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	347					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AACTCGTCGCGACTGGTCTCC	0.647																																																	0													49	43	45					20																	62572380		2188	4294	6482	SO:0001583	missense	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1039C>T	20.37:g.62572380G>A	ENSP00000346155:p.Arg347Cys		B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Missense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.R347C	ENST00000354216.6	37	c.1039	CCDS13547.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.696943|4.696943	0.88830|0.88830	.|.	.|.	ENSG00000198276|ENSG00000198276	ENST00000354216;ENST00000369892;ENST00000369908;ENST00000430743|ENST00000358711	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78419|0.78419	0.4280|0.4280	M|M	0.91920|0.91920	3.255|3.255	0.30760|0.30760	N|N	0.744153|0.744153	D;D|.	0.89917|.	1.0;0.988|.	D;B|.	0.81914|.	0.995;0.397|.	T|T	0.81623|0.81623	-0.0849|-0.0849	9|6	0.59425|0.87932	D|D	0.04|0	-32.4509|-32.4509	14.6864|14.6864	0.69052|0.69052	0.0:0.0:0.8457:0.1543|0.0:0.0:0.8457:0.1543	.|.	332;347|.	B7Z8N2;Q9NWZ5|.	.;UCKL1_HUMAN|.	C|L	347;347;332;12|363	.|.	ENSP00000346155:R347C|ENSP00000351546:S363L	R|S	-|-	1|2	0|0	UCKL1|UCKL1	62042824|62042824	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.831000|0.831000	0.47069|0.47069	4.407000|4.407000	0.59754|0.59754	2.456000|2.456000	0.83038|0.83038	0.555000|0.555000	0.69702|0.69702	CGC|TCG	UCKL1	-	NULL	ENSG00000198276		0.647	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	-	0	56	0	G	NM_017859		62572380	-1	tier1	-	no_errors	ENST00000354216	ensembl	human	known	74_37	missense	33.80	46	24	SNP	1.000	A	A	62572380	G	A	62572380	3	1	88	1	0	0	0	0	1	0	0	0	16974	1058	37	1	631	1	UCKL1	20	62572380	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	18334948	62572380	453140	198	25347											
NCAM2	4685	genome.wustl.edu	37	chr21	22707830	22707830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttcttctttaggaatgGcaagctcattgaagaaaatg	12	16	8	5	0	3	2	1	1	2	1	3	3	3	3	0	2	1	2	0	2	6	7	rs536033294		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:22707830G>A	ENST00000400546.1	+	7	992	c.743G>A	c.(742-744)gGc>gAc	p.G248D	NCAM2_ENST00000535285.1_Missense_Mutation_p.G273D|NCAM2_ENST00000284894.7_Missense_Mutation_p.G106D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	248	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTTAGGAATGGCAAGCTCATT	0.343													G|||	1	0.000199681	8e-04	0	5008	,	,		15802	0		0	False		,,,				2504	0																0													73	65	68					21																	22707830		1844	4095	5939	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.743G>A	21.37:g.22707830G>A	ENSP00000383392:p.Gly248Asp		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.G248D	ENST00000400546.1	37	c.743	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305741	0.81247	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.50277	0.75;0.75;0.75	5.32	5.32	0.75619	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65698	0.2716	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.67741	-0.5592	10	0.72032	D	0.01	-14.4322	17.5596	0.87902	0.0:0.0:1.0:0.0	.	273;106;248	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	D	248;106;273	ENSP00000383392:G248D;ENSP00000284894:G106D;ENSP00000441887:G273D	ENSP00000284894:G106D	G	+	2	0	NCAM2	21629701	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.415000	0.66411	2.487000	0.83934	0.460000	0.39030	GGC	NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000154654		0.343	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	51	0	G	NM_004540		22707830	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	A	A	22707830	G	A	22707830	3	1	88	1	0	0	0	0	1	0	0	0	10242	1203	42	3	769	3	NCAM2	21	22707830	Missense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09		22707830	25422065	199	25348											
BACH1	571	genome.wustl.edu	37	chr21	30714989	30714989	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcagtgctgcctccCtgtgccagaggaaacagtga	9	7	11	14	0	0	2	0	1	0	1	2	3	2	3	5	1	5	2	5	1	1	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:30714989C>T	ENST00000399921.1	+	5	2289	c.2046C>T	c.(2044-2046)ccC>ccT	p.P682P	BACH1_ENST00000286800.3_Silent_p.P682P	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCTGCCTCCCTGTGCCAGAG	0.527																																																	0													56	60	59					21																	30714989		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.2046C>T	21.37:g.30714989C>T			Q3MJE2|Q8NCI5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.P682	ENST00000399921.1	37	c.2046	CCDS13585.1	21																																																																																			BACH1	-	NULL	ENSG00000156273		0.527	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1	-	0	28	0	C	NM_206866		30714989	1	tier1	-	no_errors	ENST00000286800	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.008	T	T	30714989	C	T	30714989	2	4	88	1	0	0	0	0	0	0	0	1	1284	668	24	3		3	BACH1	21	30714989	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	8007159	30714989	17414906	200	25349											
TIAM1	7074	genome.wustl.edu	37	chr21	32492818	32492818	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgagctgtgccatgcgGgacgcgtgactatccagggt	6	11	14	10	3	1	2	0	2	1	0	2	3	2	3	2	2	3	1	2	2	1	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:32492818G>T	ENST00000286827.3	-	29	5115	c.4644C>A	c.(4642-4644)tcC>tcA	p.S1548S	TIAM1_ENST00000541036.1_Silent_p.S1488S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1548					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGCCATGCGGGACGCGTGAC	0.592																																																	0													83	74	77					21																	32492818		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4644C>A	21.37:g.32492818G>T			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S1548	ENST00000286827.3	37	c.4644	CCDS13609.1	21																																																																																			TIAM1	-	NULL	ENSG00000156299		0.592	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1		0	48	0	G	NM_003253		32492818	-1			no_errors	ENST00000286827	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.999	T	T	32492818	G	T	32492818	2	4	88	1	0	0	0	0	0	0	0	1	15937	1219	43	3		3	TIAM1	21	32492818	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	1777829	32492818	15637077	201	25350											
SYNJ1	8867	genome.wustl.edu	37	chr21	34015720	34015720	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaagagtcttgttacCttccatctctctcctagcta	9	15	5	12	0	3	1	0	0	3	1	6	1	4	1	3	0	3	3	3	0	5	6			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:34015720C>T	ENST00000322229.7	-	26	3477	c.3478G>A	c.(3478-3480)Gca>Aca	p.A1160T	SYNJ1_ENST00000382499.2_Splice_Site_p.A1199T|SYNJ1_ENST00000433931.2_Splice_Site_p.A1199T|SYNJ1_ENST00000357345.3_Intron|SYNJ1_ENST00000382491.3_Intron			O43426	SYNJ1_HUMAN	synaptojanin 1	1160	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCTTGTTACCTTCCATCTCT	0.473																																																	0													108	111	110					21																	34015720		2203	4300	6503	SO:0001630	splice_region_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3478+1G>A	21.37:g.34015720C>T			O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.A1199T	ENST00000322229.7	37	c.3595	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996639	0.74818	.	.	ENSG00000159082	ENST00000382499;ENST00000433931;ENST00000322229	D;D;D	0.93763	-3.28;-2.48;-2.5	5.62	5.62	0.85841	.	0.428114	0.24879	N	0.034876	D	0.90707	0.7084	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	D	0.85930	0.1451	9	.	.	.	.	19.6657	0.95891	0.0:1.0:0.0:0.0	.	1199;1160	C9JFZ1;O43426-2	.;.	T	1199;1199;1160	ENSP00000371939:A1199T;ENSP00000409667:A1199T;ENSP00000322234:A1160T	.	A	-	1	0	SYNJ1	32937591	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.924000	0.70054	2.637000	0.89404	0.650000	0.86243	GCA	SYNJ1	-	NULL	ENSG00000159082		0.473	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0	64	0	C		Missense_Mutation	34015720	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	41.57	52	37	SNP	1.000	T	T	34015720	C	T	34015720	5	4	88	1	0	0	0	0	0	0	1	0	15499	695	24	3	1292	3	SYNJ1	21	34015720	Splice_Site	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	1522902	34015720	14114175	202	25351											
SYNJ1	8867	genome.wustl.edu	37	chr21	34045678	34045678	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggatgccagctaacttGggtgcatcaagaagccagtc	10	9	11	11	0	1	1	1	0	0	1	3	2	2	2	3	2	5	2	3	2	3	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:34045678G>T	ENST00000322229.7	-	13	1697	c.1698C>A	c.(1696-1698)ccC>ccA	p.P566P	SYNJ1_ENST00000382499.2_Silent_p.P605P|SYNJ1_ENST00000433931.2_Silent_p.P605P|SYNJ1_ENST00000357345.3_Silent_p.P566P|SYNJ1_ENST00000382491.3_Silent_p.P561P			O43426	SYNJ1_HUMAN	synaptojanin 1	566	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAGCTAACTTGGGTGCATCAA	0.393																																																	0													105	101	102					21																	34045678		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1698C>A	21.37:g.34045678G>T			O43425|O94984|Q4KMR1	Silent	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P605	ENST00000322229.7	37	c.1815	CCDS54484.1	21																																																																																			SYNJ1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000159082		0.393	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0	48	0	G			34045678	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	silent	5.88	80	5	SNP	0.998	T	T	34045678	G	T	34045678	2	4	88	1	0	0	0	0	0	0	0	1	15499	1335	47	3		3	SYNJ1	21	34045678	Silent	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	29958	34045678	14084217	203	25352											
SETD4	54093	genome.wustl.edu	37	chr21	37408484	37408484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatctttagctcttccgtCcacaaggattccaccaaagt	12	11	6	12	1	2	1	0	0	2	1	5	2	5	2	4	1	1	1	4	1	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:37408484C>A	ENST00000399215.1	-	10	2626	c.1254G>T	c.(1252-1254)tgG>tgT	p.W418C	SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.W418C|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Missense_Mutation_p.W394C			Q9NVD3	SETD4_HUMAN	SET domain containing 4	418				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCTCTTCCGTCCACAAGGATT	0.418																																																	0													140	140	140					21																	37408484		2203	4300	6503	SO:0001583	missense	0			AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 27", "chromosome 21 open reading frame 18"	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1254G>T	21.37:g.37408484C>A	ENSP00000382163:p.Trp418Cys		B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd	p.W418C	ENST00000399215.1	37	c.1254	CCDS13640.1	21	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538151	0.27475	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.16897	2.31;2.31;2.31	5.57	3.75	0.43078	Rubisco LS methyltransferase, substrate-binding domain (1);	0.261603	0.34628	N	0.003819	T	0.20941	0.0504	L	0.47716	1.5	0.80722	D	1	D;D	0.61697	0.988;0.99	P;P	0.56788	0.707;0.806	T	0.11518	-1.0584	10	0.38643	T	0.18	0.5295	1.482	0.02439	0.145:0.4607:0.1594:0.2349	.	394;418	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	C	418;394;418	ENSP00000382163:W418C;ENSP00000382161:W394C;ENSP00000329189:W418C	ENSP00000329189:W418C	W	-	3	0	SETD4	36330354	0.002000	0.14202	0.697000	0.30258	0.047000	0.14425	0.456000	0.21859	1.347000	0.45714	0.563000	0.77884	TGG	SETD4	-	pfam_Rubisco_LSMT_subst-bd,pirsf_Lys_MTase_YDR198C_prd	ENSG00000185917		0.418	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD4	HGNC	protein_coding	OTTHUMT00000194456.1	-	0	71	0	C	NM_017438		37408484	-1	tier1	-	no_errors	ENST00000332131	ensembl	human	known	74_37	missense	51.61	30	32	SNP	0.343	A	A	37408484	C	A	37408484	3	1	88	1	0	0	0	0	1	0	0	0	14178	856	30	3	72	3	SETD4	21	37408484	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	3362806	37408484	10721411	204	25353											
PRDM15	63977	genome.wustl.edu	37	chr21	43256297	43256297	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaattttgcacactcttcGcacttaaacagcttgtcacc	12	12	4	13	1	2	0	1	0	1	0	3	0	2	0	1	0	4	3	1	0	4	5	rs377336502		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:43256297G>T	ENST00000269844.3	-	17	2411	c.2301C>A	c.(2299-2301)tgC>tgA	p.C767*	PRDM15_ENST00000538201.1_Nonsense_Mutation_p.C401*|PRDM15_ENST00000398548.1_Nonsense_Mutation_p.C438*|PRDM15_ENST00000422911.1_Nonsense_Mutation_p.C438*|PRDM15_ENST00000447207.2_Nonsense_Mutation_p.C401*	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	767					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACACTCTTCGCACTTAAACA	0.512																																																	0													215	168	184					21																	43256297		2203	4300	6503	SO:0001587	stop_gained	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"Zinc fingers, C2H2-type"	13999	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 83"	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2301C>A	21.37:g.43256297G>T	ENSP00000269844:p.Cys767*		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.C767*	ENST00000269844.3	37	c.2301	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	g	40	8.487641	0.98832	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	.	.	.	4.76	-4.31	0.03698	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9271	12.266	0.54679	0.4605:0.0:0.5395:0.0	.	.	.	.	X	438;438;401;401;767;401	.	ENSP00000269844:C767X	C	-	3	2	PRDM15	42129366	0.997000	0.39634	0.926000	0.36857	0.921000	0.55340	0.689000	0.25437	-1.248000	0.02503	-0.141000	0.14075	TGC	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000141956		0.512	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		-	0	39	0	G	NM_022115		43256297	-1	tier1	-	no_errors	ENST00000269844	ensembl	human	known	74_37	nonsense	20.93	34	9	SNP	0.896	T	T	43256297	G	T	43256297	4	4	88	1	0	0	0	0	0	1	0	0	12498	1079	38	2	2282	2	PRDM15	21	43256297	Nonsense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	5847813	43256297	4873598	205	25354											
COL6A1	1291	genome.wustl.edu	37	chr21	47421897	47421897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccagggcagtcgtacgCgggtgtggtgcagtacagcc	7	6	17	11	4	0	0	0	0	0	0	1	1	0	0	2	3	5	4	2	3	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr21:47421897C>T	ENST00000361866.3	+	31	2093	c.1979C>T	c.(1978-1980)gCg>gTg	p.A660V	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	660	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTCGTACGCGGGTGTGGTG	0.652																																																	0													40	38	39					21																	47421897		2203	4300	6503	SO:0001583	missense	0			M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"Collagens"	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.1979C>T	21.37:g.47421897C>T	ENSP00000355180:p.Ala660Val		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A660V	ENST00000361866.3	37	c.1979	CCDS13727.1	21	.	.	.	.	.	.	.	.	.	.	C	1.622	-0.521311	0.04171	.	.	ENSG00000142156	ENST00000361866	T	0.77358	-1.09	4.64	1.81	0.25067	von Willebrand factor, type A (3);	0.292311	0.27358	N	0.019740	T	0.25754	0.0627	N	0.00028	-2.635	0.09310	N	1	B	0.19073	0.033	B	0.12156	0.007	T	0.52290	-0.8595	10	0.02654	T	1	-13.0039	5.8377	0.18617	0.0:0.4341:0.0:0.5659	.	660	P12109	CO6A1_HUMAN	V	660	ENSP00000355180:A660V	ENSP00000355180:A660V	A	+	2	0	COL6A1	46246325	0.982000	0.34865	0.003000	0.11579	0.004000	0.04260	2.317000	0.43770	0.405000	0.25532	0.462000	0.41574	GCG	COL6A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142156		0.652	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A1	HGNC	protein_coding	OTTHUMT00000206877.1	-	0	17	0	C	NM_001848		47421897	1	tier1	-	no_errors	ENST00000361866	ensembl	human	known	74_37	missense	68.75	5	11	SNP	0.105	T	T	47421897	C	T	47421897	3	4	88	1	0	0	0	0	1	0	0	0	3706	768	27	1	2101	1	COL6A1	21	47421897	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	4165600	47421897	707998	206	25355											
CABIN1	23523	genome.wustl.edu	37	chr22	24479285	24479285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgcttctactgcctgtaCagcttccccagcaagaagag	10	9	9	13	0	1	2	0	0	1	2	2	2	2	2	3	0	6	4	3	0	4	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:24479285C>T	ENST00000398319.2	+	20	3238	c.2853C>T	c.(2851-2853)taC>taT	p.Y951Y	CABIN1_ENST00000405822.2_Silent_p.Y901Y|CABIN1_ENST00000263119.5_Silent_p.Y951Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	951					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTGCCTGTACAGCTTCCCCA	0.572																																																	0													90	75	80					22																	24479285		2203	4300	6503	SO:0001819	synonymous_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2853C>T	22.37:g.24479285C>T			G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y951	ENST00000398319.2	37	c.2853	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.572	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0	25	0	C	NM_012295		24479285	1	tier1	-	no_errors	ENST00000263119	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.999	T	T	24479285	C	T	24479285	2	4	88	1	0	0	0	0	0	0	0	1	2535	489	17	3		3	CABIN1	22	24479285	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		24479285	26825281	207	25356											
TNRC6B	23112	genome.wustl.edu	37	chr22	40661352	40661353	+	Frame_Shift_Ins	INS	-	-	A																															attcataacactgatggaccINSaaaaaatggaaacactaact																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:40661352_40661353insA	ENST00000454349.2	+	5	1329_1330	c.1118_1119insA	c.(1117-1122)ccaaaafs	p.PK373fs	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Frame_Shift_Ins_p.PK373fs|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	373	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						ACTGATGGACCAAAAAATGGAA	0.455																																																	0																																										SO:0001589	frameshift_variant	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"Trinucleotide (CAG) repeat containing"	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1124dupA	22.37:g.40661358_40661358dupA	ENSP00000401946:p.Pro373fs		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Frame_Shift_Ins	INS	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.N375fs	ENST00000454349.2	37	c.1118_1119	CCDS54533.1	22																																																																																			TNRC6B	-	NULL	ENSG00000100354		0.455	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding			0	38	0	-			40661353	1	tier1		no_errors	ENST00000454349	ensembl	human	known	74_37	frame_shift_ins	7.69	24	2	INS	1.000:1.000	A	A	40661353	-	A	40661352	7	5	88	1	0	1	1	0	0	0	0	0	16388	594	21	0	1257	0	TNRC6B	22	40661352	Frame_Shift_Ins	INS	-	TCGA-L5-A8NN-01A-11D-A37C-09	16182067	40661352	10643214	208	25357											
PNPLA5	150379	genome.wustl.edu	37	chr22	44285693	44285694	+	Frame_Shift_Ins	INS	-	-	T																															ctcacctcccctctgaactcINSgggggggatcagcccgcagt																								rs140099101	byFrequency	TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:44285693_44285694insT	ENST00000597664.1	-	3	606_607	c.477_478insA	c.(475-480)cccgagfs	p.E160fs	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000216177.4_Frame_Shift_Ins_p.E160fs|PNPLA5_ENST00000381198.2_Intron			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	160	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)	p.E160fs*47(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTCTGAACTCGGGGGGGATCA	0.574																																																	1	Insertion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"Patatin-like phospholipase domain containing"	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.477_478insA	22.37:g.44285693_44285694insT	ENSP00000471069:p.Glu160fs		B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Ins	INS	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.E159fs	ENST00000597664.1	37	c.478_477		22																																																																																			PNPLA5	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000100341		0.574	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	PNPLA5	HGNC	protein_coding	OTTHUMT00000075667.4		0	33	0	-	NM_138814		44285694	-1	tier1		no_errors	ENST00000216177	ensembl	human	known	74_37	frame_shift_ins	11.76	15	2	INS	0.000:0.000	T	T	44285694	-	T	44285693	7	5	88	1	0	1	1	0	0	0	0	0	12207	893	31	0	839	0	PNPLA5	22	44285693	Frame_Shift_Ins	INS	-	TCGA-L5-A8NN-01A-11D-A37C-09	3624341	44285693	7018873	209	25358											
ZBED4	9889	genome.wustl.edu	37	chr22	50279480	50279480	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaccttaaggaagctGagagtggtgtgatccacttc	9	11	11	10	0	0	2	0	2	0	1	3	4	2	3	3	2	1	1	3	2	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chr22:50279480G>T	ENST00000216268.5	+	2	2647	c.2170G>T	c.(2170-2172)Gag>Tag	p.E724*		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	724						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAAGGAAGCTGAGAGTGGTGT	0.522																																																	0													74	75	75					22																	50279480		2203	4300	6503	SO:0001587	stop_gained	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2170G>T	22.37:g.50279480G>T	ENSP00000216268:p.Glu724*		B2RZH1|Q1ECU0|Q9UGG8	Nonsense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.E724*	ENST00000216268.5	37	c.2170	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	43	9.980185	0.99309	.	.	ENSG00000100426	ENST00000216268	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-36.6208	19.239	0.93875	0.0:0.0:1.0:0.0	.	.	.	.	X	724	.	ENSP00000216268:E724X	E	+	1	0	ZBED4	48665484	1.000000	0.71417	0.944000	0.38274	0.852000	0.48524	9.312000	0.96287	2.533000	0.85409	0.561000	0.74099	GAG	ZBED4	-	superfamily_RNaseH-like_dom	ENSG00000100426		0.522	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0	31	0	G	NM_014838		50279480	1			no_errors	ENST00000216268	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	1.000	T	T	50279480	G	T	50279480	4	4	88	1	0	0	0	0	0	1	0	0	17568	1291	45	3	2172	3	ZBED4	22	50279480	Nonsense_Mutation	SNP	G	TCGA-L5-A8NN-01A-11D-A37C-09	5993787	50279480	1025086	210	25359											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29973625	29973625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcggccatttccatggcCgcggccacctccacagctct	5	9	9	18	3	2	0	0	0	2	0	5	0	4	0	6	3	1	1	6	3	0	1	rs368495685		TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:29973625C>T	ENST00000378993.1	+	11	2452	c.1779C>T	c.(1777-1779)gcC>gcT	p.A593A	IL1RAPL1_ENST00000302196.4_Silent_p.A593A	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	593	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTCCATGGCCGCGGCCACCT	0.512																																																	0								T		1,3832		0,1,1630,571	54	36	42		1779	-5.5	0.6	X		42	0,6728		0,0,2428,1872	no	coding-synonymous	IL1RAPL1	NM_014271.3		0,1,4058,2443	TT,TC,CC,C		0.0,0.0261,0.0095		593/697	29973625	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1779C>T	X.37:g.29973625C>T			A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.A593	ENST00000378993.1	37	c.1779	CCDS14218.1	X																																																																																			IL1RAPL1	-	NULL	ENSG00000169306		0.512	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	-	0	40	0	C	NM_014271		29973625	1	tier1	-	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	71.21	19	47	SNP	0.183	T	T	29973625	C	T	29973625	2	4	88	1	0	0	0	0	0	0	0	1	7688	639	23	1		1	IL1RAPL1	23	29973625	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09		29973625	125296935	211	25360											
PHF16	9767	genome.wustl.edu	37	chrX	46887436	46887436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgtgatctgtgatgtgtgCcggtctccagacagtgaaga	9	11	14	7	1	2	5	0	3	2	2	3	6	2	5	2	1	1	0	2	1	1	0			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:46887436C>T	ENST00000218343.4	+	6	916	c.618C>T	c.(616-618)tgC>tgT	p.C206C	PHF16_ENST00000397189.1_Silent_p.C206C	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GTGATGTGTGCCGGTCTCCAG	0.463																																																	0													358	229	273					X																	46887436		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000218343.4:c.618C>T	X.37:g.46887436C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.C206	ENST00000218343.4	37	c.618	CCDS14271.1	X																																																																																			PHF16	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000102221		0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1		0	55	0	C			46887436	1			no_errors	ENST00000218343	ensembl	human	known	74_37	silent	6.12	46	3	SNP	1.000	T	T	46887436	C	T	46887436	2	4	88	1	0	0	0	0	0	0	0	1	11866	747	26	3		3	PHF16	23	46887436	Silent	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	16913811	46887436	108383124	212	25361											
PHF8	23133	genome.wustl.edu	37	chrX	54069146	54069146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccggcagaggcaatacaCcggcaccgaggccatcttcg	10	4	12	15	4	1	1	0	0	1	1	2	2	1	1	4	4	2	3	4	4	2	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:54069146C>T	ENST00000357988.5	-	2	482	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	PHF8_ENST00000322659.8_Missense_Mutation_p.V6M|PHF8_ENST00000338946.6_Missense_Mutation_p.V6M|PHF8_ENST00000338154.6_Missense_Mutation_p.V6M|PHF8_ENST00000462182.1_5'UTR	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	42					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						AGGCAATACACCGGCACCGAG	0.647											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86	55	66					X																	54069146		2202	4300	6502	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.124G>A	X.37:g.54069146C>T	ENSP00000350676:p.Val42Met	997	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.V42M	ENST00000357988.5	37	c.124	CCDS55420.1	X	.	.	.	.	.	.	.	.	.	.	C	25.8	4.670970	0.88348	.	.	ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659;ENST00000425862;ENST00000437224;ENST00000415025;ENST00000453905;ENST00000445025;ENST00000433120	T;T;T;T;T;T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58	5.14	5.14	0.70334	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.059637	0.64402	D	0.000003	T	0.16171	0.0389	N	0.08118	0	0.44798	D	0.997802	P;D	0.67145	0.638;0.996	B;P	0.56960	0.159;0.81	T	0.20306	-1.0279	10	0.72032	D	0.01	-7.6339	16.6169	0.84918	0.0:1.0:0.0:0.0	.	6;42	B7Z911;Q9UPP1	.;PHF8_HUMAN	M	42;6;6;36;6;6;6;6;42;6;6	ENSP00000350676:V42M;ENSP00000338868:V6M;ENSP00000340051:V6M;ENSP00000319473:V6M;ENSP00000408113:V6M;ENSP00000398995:V6M;ENSP00000404117:V6M;ENSP00000405897:V42M;ENSP00000416546:V6M;ENSP00000410100:V6M	ENSP00000319473:V6M	V	-	1	0	PHF8	54085871	1.000000	0.71417	0.904000	0.35570	0.841000	0.47740	5.578000	0.67450	2.269000	0.75478	0.600000	0.82982	GTG	PHF8	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger	ENSG00000172943		0.647	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	-	0	37	0	C	NM_015107		54069146	-1	tier1	-	no_errors	ENST00000357988	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.997	T	T	54069146	C	T	54069146	3	4	88	1	0	0	0	0	1	0	0	0	11879	507	18	3	3312	3	PHF8	23	54069146	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	7181710	54069146	101201414	213	25362											
ZMYM3	9203	genome.wustl.edu	37	chrX	70472901	70472901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatccaggactccagggtCtttttccaggccagcagggg	7	9	12	13	0	1	0	0	0	1	0	5	1	5	1	5	5	1	1	5	5	0	2			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:70472901C>T	ENST00000353904.2	-	2	392	c.205G>A	c.(205-207)Gac>Aac	p.D69N	ZMYM3_ENST00000373998.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D69N|ZMYM3_ENST00000373978.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D69N|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D69N|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D69N	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	69					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D69fs*9(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACTCCAGGGTCTTTTTCCAGG	0.652																																																	1	Deletion - Frameshift(1)	prostate(1)											14	16	15					X																	70472901		2197	4291	6488	SO:0001583	missense	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"Zinc fingers, MYM type"	13054	protein-coding gene	gene with protein product		300061	"zinc finger protein 261"	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.205G>A	X.37:g.70472901C>T	ENSP00000343909:p.Asp69Asn		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.D69N	ENST00000353904.2	37	c.205	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	c	17.39	3.377407	0.61735	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.28	5.28	0.74379	.	0.413451	0.21551	N	0.072737	T	0.38427	0.1040	N	0.14661	0.345	0.25035	N	0.991248	D;P;B	0.63880	0.993;0.557;0.421	D;B;B	0.70935	0.971;0.169;0.081	T	0.20773	-1.0265	10	0.30078	T	0.28	-7.3827	10.1031	0.42517	0.0:0.8965:0.0:0.1035	.	69;69;69	Q96E26;Q14202-2;Q14202	.;.;ZMYM3_HUMAN	N	69	ENSP00000322845:D69N;ENSP00000363110:D69N;ENSP00000343909:D69N;ENSP00000363096:D69N;ENSP00000363100:D69N;ENSP00000363094:D69N;ENSP00000363093:D69N;ENSP00000363090:D69N	ENSP00000322845:D69N	D	-	1	0	ZMYM3	70389626	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.341000	0.52151	2.204000	0.70986	0.287000	0.19450	GAC	ZMYM3	-	NULL	ENSG00000147130		0.652	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	-	0	53	0	C	NM_201599		70472901	-1	tier1	-	no_errors	ENST00000373988	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	T	T	70472901	C	T	70472901	3	4	88	1	0	0	0	0	1	0	0	0	17749	913	32	3	4021	3	ZMYM3	23	70472901	Missense_Mutation	SNP	C	TCGA-L5-A8NN-01A-11D-A37C-09	16403755	70472901	84797659	214	25363											
FAM199X	139231	genome.wustl.edu	37	chrX	103420452	103420452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttatttcctgaggggAgtgtctgcagtgatgtctct	6	17	12	6	0	2	3	0	3	2	0	4	4	3	4	1	2	1	1	1	2	1	4			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:103420452A>G	ENST00000493442.1	+	2	512	c.346A>G	c.(346-348)Agt>Ggt	p.S116G		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	116										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCCTGAGGGGAGTGTCTGCAG	0.403																																																	0													166	131	143					X																	103420452		2203	4300	6503	SO:0001583	missense	0			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"chromosome X open reading frame 39"	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.346A>G	X.37:g.103420452A>G	ENSP00000417581:p.Ser116Gly		Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.S116G	ENST00000493442.1	37	c.346	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256388	0.80246	.	.	ENSG00000123575	ENST00000493442	T	0.46063	0.88	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.57536	1.79	0.80722	D	1	P	0.52577	0.954	D	0.63597	0.916	T	0.55842	-0.8077	9	.	.	.	-1.6998	12.8183	0.57677	1.0:0.0:0.0:0.0	.	116	Q6PEV8	F199X_HUMAN	G	116	ENSP00000417581:S116G	.	S	+	1	0	FAM199X	103307108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	1.685000	0.51034	0.486000	0.48141	AGT	FAM199X	-	NULL	ENSG00000123575		0.403	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1		0	37	0	A	NM_207318		103420452	1			no_errors	ENST00000493442	ensembl	human	known	74_37	missense	5.06	74	4	SNP	1.000	G	G	103420452	A	G	103420452	3	3	88	1	0	0	0	0	1	0	0	0	5549	304	11	4	352	4	FAM199X	23	103420452	Missense_Mutation	SNP	A	TCGA-L5-A8NN-01A-11D-A37C-09	32947551	103420452	51850108	215	25364											
SLC25A5	292	genome.wustl.edu	37	chrX	118603756	118603756	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccaatgtcatcagatacTtccccacccaggctcttaac	10	10	6	15	0	3	1	2	0	1	1	4	1	4	1	4	2	2	1	4	2	3	3			TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:118603756T>A	ENST00000317881.8	+	2	360	c.244T>A	c.(244-246)Ttc>Atc	p.F82I	SLC25A5-AS1_ENST00000446986.1_RNA|SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	82					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CATCAGATACTTCCCCACCCA	0.493																																																	0													122	118	120					X																	118603756		2203	4300	6503	SO:0001583	missense	0			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"Solute carriers"	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.244T>A	X.37:g.118603756T>A	ENSP00000360671:p.Phe82Ile		B2RCV1|O43350	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.F82I	ENST00000317881.8	37	c.244	CCDS14578.1	X	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146439	0.77888	.	.	ENSG00000005022	ENST00000317881	T	0.78003	-1.14	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.83483	2.645	0.80722	D	1	P	0.47302	0.893	P	0.46718	0.525	D	0.84987	0.0892	10	0.87932	D	0	.	12.1849	0.54231	0.0:0.0:0.0:1.0	.	82	P05141	ADT2_HUMAN	I	82	ENSP00000360671:F82I	ENSP00000360671:F82I	F	+	1	0	SLC25A5	118487784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.562000	0.82300	1.622000	0.50330	0.430000	0.28490	TTC	SLC25A5	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000005022		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	HGNC	protein_coding	OTTHUMT00000058952.2		0	22	0	T	NM_001152		118603756	1			no_errors	ENST00000317881	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	118603756	T	A	118603756	3	1	88	1	0	0	0	0	1	0	0	0	14557	1609	56	5	250	5	SLC25A5	23	118603756	Missense_Mutation	SNP	T	TCGA-L5-A8NN-01A-11D-A37C-09	15183304	118603756	36666804	216	25365											
STAG2	10735	genome.wustl.edu	37	chrX	123164976	123164977	+	Splice_Site	INS	-	-	T																															gggcaagagtgctatgcaggINStaagatttatgttgttcttc																										TCGA-L5-A8NN-01A-11D-A37C-09	TCGA-L5-A8NN-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7a1853e1-b739-4c77-9b03-ce2e590953e8	f47b1dab-3bc6-4050-917e-5e94d4bb2c7e	g.chrX:123164976_123164977insT	ENST00000371160.1	+	5	578		c.e5+1		STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000354548.5_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCTATGCAGGTAAGATTTATG	0.342																																																	0																																										SO:0001630	splice_region_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.288+1->T	X.37:g.123164977_123164977dupT			B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	INS	-	e3+1	ENST00000371160.1	37	c.288+1_288+1	CCDS14607.1	X																																																																																			STAG2	-	-	ENSG00000101972		0.342	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2		0	41	0	-	NM_006603	Intron	123164977	1	tier1		no_errors	ENST00000218089	ensembl	human	known	74_37	splice_site_ins	79.66	12	47	INS	1.000:1.000	T	T	123164977	-	T	123164976	8	5	88	1	0	1	1	0	0	0	1	0	15290	1275	44	0	299	0	STAG2	23	123164976	Splice_Site	INS	-	TCGA-L5-A8NN-01A-11D-A37C-09	4561220	123164976	32105584	217	25366											
CCDC27	148870	genome.wustl.edu	37	chr1	3677928	3677928	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagagggaggccctGaagatgcagctgaaatgcct	12	5	16	8	0	0	4	0	2	0	2	0	7	0	6	2	4	3	2	2	4	2	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:3677928G>T	ENST00000294600.2	+	5	879	c.795G>T	c.(793-795)ctG>ctT	p.L265L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	265										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GGGAGGCCCTGAAGATGCAGC	0.582																																																	0													79	75	77					1																	3677928		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.795G>T	1.37:g.3677928G>T			Q5TBV3|Q96M50	Silent	SNP	superfamily_Prefoldin	p.L265	ENST00000294600.2	37	c.795	CCDS50.1	1																																																																																			CCDC27	-	NULL	ENSG00000162592		0.582	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1		0	72	0	G	NM_152492		3677928	1			no_errors	ENST00000294600	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.006	T	T	3677928	G	T	3677928	2	4	89	1	0	0	0	0	0	0	0	1	2808	1277	45	3		3	CCDC27	1	3677928	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		3677928	245572693	1	25367											
H6PD	9563	genome.wustl.edu	37	chr1	9324422	9324422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggttgacgagcgctgcGtcccactctcagacccggag	6	7	14	14	4	1	2	1	1	1	1	3	4	2	3	2	3	2	3	2	3	0	1	rs371828494		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:9324422G>T	ENST00000377403.2	+	5	2172	c.1870G>T	c.(1870-1872)Gtc>Ttc	p.V624F	H6PD_ENST00000602477.1_Missense_Mutation_p.V635F	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	624	6-phosphogluconolactonase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CGAGCGCTGCGTCCCACTCTC	0.677																																																	0													22	23	23					1																	9324422		2201	4296	6497	SO:0001583	missense	0			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"glucose dehyrogenase"	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.1870G>T	1.37:g.9324422G>T	ENSP00000366620:p.Val624Phe		Q4TT33|Q66I35|Q68DT3	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.V624F	ENST00000377403.2	37	c.1870	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138220	0.77775	.	.	ENSG00000049239	ENST00000377403	T	0.63580	-0.05	5.16	5.16	0.70880	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	H	0.98754	4.32	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93061	0.6474	10	0.87932	D	0	-51.2425	17.6561	0.88178	0.0:0.0:1.0:0.0	.	624	O95479	G6PE_HUMAN	F	624	ENSP00000366620:V624F	ENSP00000366620:V624F	V	+	1	0	H6PD	9247009	1.000000	0.71417	0.998000	0.56505	0.764000	0.43329	7.440000	0.80464	2.420000	0.82092	0.561000	0.74099	GTC	H6PD	-	tigrfam_6-phosphogluconolactonase_DevB	ENSG00000049239		0.677	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2		0	23	0	G	NM_004285		9324422	1			no_errors	ENST00000377403	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	9324422	G	T	9324422	3	4	89	1	0	0	0	0	1	0	0	0	6963	1145	40	2	1884	2	H6PD	1	9324422	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5646494	9324422	239926199	2	25368											
PADI1	29943	genome.wustl.edu	37	chr1	17557135	17557135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtctttgactcccccagGaacaggggcctgaaagattt	9	10	12	10	0	1	3	0	2	1	1	2	4	2	4	3	4	1	0	3	4	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:17557135G>T	ENST00000375471.4	+	10	1214	c.1122G>T	c.(1120-1122)agG>agT	p.R374S	PADI1_ENST00000537499.1_5'Flank|PADI1_ENST00000536552.1_5'Flank|PADI1_ENST00000413717.2_5'Flank	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	374					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACTCCCCCAGGAACAGGGGCC	0.562																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													43	43	43					1																	17557135		2203	4300	6503	SO:0001583	missense	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"Peptidyl arginine deiminases"	18367	protein-coding gene	gene with protein product	"peptidylarginine deiminase type I", "protein-arginine deiminase type-1", "hPAD-colony 10"	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1122G>T	1.37:g.17557135G>T	ENSP00000364620:p.Arg374Ser		A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.R374S	ENST00000375471.4	37	c.1122	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548779	0.65311	.	.	ENSG00000142623	ENST00000375471	T	0.33865	1.39	5.63	-2.56	0.06268	Protein-arginine deiminase, C-terminal (1);	0.000000	0.64402	D	0.000006	T	0.50905	0.1643	M	0.84156	2.68	0.80722	D	1	D	0.60575	0.988	P	0.61940	0.896	T	0.50996	-0.8761	10	0.87932	D	0	-8.7611	7.0215	0.24916	0.5194:0.0:0.3712:0.1094	.	374	Q9ULC6	PADI1_HUMAN	S	374	ENSP00000364620:R374S	ENSP00000364620:R374S	R	+	3	2	PADI1	17429722	0.000000	0.05858	0.715000	0.30552	0.936000	0.57629	-0.520000	0.06252	-0.779000	0.04560	-0.302000	0.09304	AGG	PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142623		0.562	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	-	0	94	0	G	NM_013358		17557135	1	tier1	-	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.593	T	T	17557135	G	T	17557135	3	4	89	1	0	0	0	0	1	0	0	0	11416	1165	41	3	1160	3	PADI1	1	17557135	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	8232713	17557135	231693486	3	25369											
KIF17	57576	genome.wustl.edu	37	chr1	21014222	21014222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actggagcccagagaaatctCagatttggagggttccacct	11	9	11	10	0	1	2	1	0	1	2	3	5	2	4	3	3	1	1	3	3	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:21014222C>G	ENST00000247986.2	-	8	1907	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	KIF17_ENST00000400463.3_Missense_Mutation_p.E533Q|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.E433Q			Q9P2E2	KIF17_HUMAN	kinesin family member 17	533					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGAGAAATCTCAGATTTGGAG	0.572																																																	0													64	64	64					1																	21014222		2203	4300	6503	SO:0001583	missense	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.1597G>C	1.37:g.21014222C>G	ENSP00000247986:p.Glu533Gln		A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E533Q	ENST00000247986.2	37	c.1597	CCDS213.1	1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295264	0.40594	.	.	ENSG00000117245	ENST00000375044;ENST00000400463;ENST00000247986	T;T;T	0.71934	-0.61;-0.49;-0.49	5.18	5.18	0.71444	.	0.000000	0.32719	U	0.005729	T	0.72811	0.3507	L	0.55481	1.735	0.09310	N	1	P;B	0.35894	0.526;0.337	P;B	0.44732	0.459;0.063	T	0.69247	-0.5195	10	0.62326	D	0.03	.	14.0694	0.64851	0.0:1.0:0.0:0.0	.	533;533	Q9P2E2-3;Q9P2E2	.;KIF17_HUMAN	Q	433;533;533	ENSP00000364184:E433Q;ENSP00000383311:E533Q;ENSP00000247986:E533Q	ENSP00000247986:E533Q	E	-	1	0	KIF17	20886809	0.289000	0.24334	0.025000	0.17156	0.063000	0.16089	3.201000	0.51059	2.688000	0.91661	0.591000	0.81541	GAG	KIF17	-	NULL	ENSG00000117245		0.572	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	-	0	53	0	C	NM_020816		21014222	-1	tier1	-	no_errors	ENST00000247986	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.041	G	G	21014222	C	G	21014222	3	3	89	1	0	0	0	0	1	0	0	0	8306	835	29	5	1524	5	KIF17	1	21014222	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3457087	21014222	228236399	4	25370											
ZNF436	80818	genome.wustl.edu	37	chr1	23688650	23688650	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcccctgtgtgggttctctGatgtttaattagatctgacc	6	16	9	10	0	2	3	0	2	2	1	4	3	3	3	3	1	0	2	3	1	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:23688650G>A	ENST00000314011.4	-	4	1361	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*	ZNF436_ENST00000374608.3_Nonsense_Mutation_p.Q409*	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGGGTTCTCTGATGTTTAATT	0.473																																																	0													104	110	108					1																	23688650		2203	4300	6503	SO:0001587	stop_gained	0			AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"Zinc fingers, C2H2-type", "-"	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.1225C>T	1.37:g.23688650G>A	ENSP00000313582:p.Gln409*		Q658I9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q409*	ENST00000314011.4	37	c.1225	CCDS233.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.341960	0.95783	.	.	ENSG00000125945	ENST00000314011;ENST00000374608	.	.	.	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-37.2412	18.3732	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	409	.	ENSP00000313582:Q409X	Q	-	1	0	ZNF436	23561237	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.873000	0.48475	2.941000	0.99782	0.655000	0.94253	CAG	ZNF436	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000125945		0.473	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF436	HGNC	protein_coding	OTTHUMT00000008908.1	-	0	70	0	G	NM_030634		23688650	-1	tier1	-	no_errors	ENST00000314011	ensembl	human	known	74_37	nonsense	10.59	76	9	SNP	1.000	A	A	23688650	G	A	23688650	4	1	89	1	0	0	0	0	0	1	0	0	17957	1299	45	3	191	3	ZNF436	1	23688650	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2674428	23688650	225561971	5	25371											
SNRNP40	9410	genome.wustl.edu	37	chr1	31754335	31754335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgctttcttccggatGtcccaaagctgaagcaaagg	10	10	11	10	1	1	1	0	1	1	0	3	2	3	2	2	3	3	4	2	3	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:31754335G>T	ENST00000263694.4	-	5	558	c.540C>A	c.(538-540)gaC>gaA	p.D180E	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.D180E	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	180					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TCTTCCGGATGTCCCAAAGCT	0.428																																																	0													133	103	113					1																	31754335		2203	4300	6503	SO:0001583	missense	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.540C>A	1.37:g.31754335G>T	ENSP00000263694:p.Asp180Glu		B4DQJ1|O75938|O95320	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D180E	ENST00000263694.4	37	c.540	CCDS340.1	1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768377	0.69878	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.68331	-0.32;-0.32	5.07	0.269	0.15631	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75547	0.3864	M	0.64676	1.99	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74097	-0.3775	10	0.56958	D	0.05	.	10.8336	0.46675	0.4213:0.0:0.5787:0.0	.	180;180	B4DQJ1;Q96DI7	.;SNR40_HUMAN	E	180	ENSP00000263694:D180E;ENSP00000406841:D180E	ENSP00000263694:D180E	D	-	3	2	SNRNP40	31526922	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.381000	0.34362	0.134000	0.18681	0.491000	0.48974	GAC	SNRNP40	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000060688		0.428	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1	-	0	68	0	G	NM_004814		31754335	-1	tier1	-	no_errors	ENST00000446633	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.999	T	T	31754335	G	T	31754335	3	4	89	1	0	0	0	0	1	0	0	0	14901	1368	48	3	557	3	SNRNP40	1	31754335	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	8065685	31754335	217496286	6	25372											
KIAA1522	57648	genome.wustl.edu	37	chr1	33237497	33237497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccccagcactggggccatCggccccccagaaaccactgc	9	3	9	20	1	0	1	0	0	0	1	1	1	0	1	7	3	3	1	7	3	1	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:33237497C>T	ENST00000373480.1	+	6	2643	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S858L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000401073.2_Missense_Mutation_p.S906L	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	847	Pro-rich.							p.S906L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGGGGCCATCGGCCCCCCAG	0.721																																																	2	Substitution - Missense(2)	lung(2)											7	9	9					1																	33237497		1845	4051	5896	SO:0001583	missense	0			AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2540C>T	1.37:g.33237497C>T	ENSP00000362579:p.Ser847Leu		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Missense_Mutation	SNP	NULL	p.S906L	ENST00000373480.1	37	c.2717	CCDS55588.1	1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676254	0.14841	.	.	ENSG00000162522	ENST00000401073;ENST00000373481;ENST00000373480	T;T;T	0.13420	2.59;2.59;2.6	4.98	0.67	0.17923	.	1.220330	0.06128	N	0.670027	T	0.10551	0.0258	N	0.21448	0.665	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.38887	-0.9640	10	0.40728	T	0.16	0.2419	9.2652	0.37636	0.0:0.6927:0.108:0.1993	.	858;847;906	Q9P206-3;Q9P206;Q9P206-2	.;K1522_HUMAN;.	L	906;858;847	ENSP00000383851:S906L;ENSP00000362580:S858L;ENSP00000362579:S847L	ENSP00000362579:S847L	S	+	2	0	KIAA1522	33010084	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.138000	0.16016	0.001000	0.14605	-0.813000	0.03139	TCG	KIAA1522	-	NULL	ENSG00000162522		0.721	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1522	HGNC	protein_coding	OTTHUMT00000022130.1	-	0	22	0	C			33237497	1	tier1	-	no_errors	ENST00000401073	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.000	T	T	33237497	C	T	33237497	3	4	89	1	0	0	0	0	1	0	0	0	8265	893	31	1	2739	1	KIAA1522	1	33237497	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1483162	33237497	216013124	7	25373											
ZMYM6	9204	genome.wustl.edu	37	chr1	35480750	35480750	+	Missense_Mutation	SNP	G	G	C																															agttgtgatcacatccttagGatttaaaatgtctctaaaaa																										TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:35480750G>C	ENST00000357182.4	-	5	669	c.442C>G	c.(442-444)Cct>Gct	p.P148A	ZMYM6_ENST00000373340.2_Missense_Mutation_p.P148A|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P148A|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	148					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				ACATCCTTAGGATTTAAAATG	0.333																																																	0													40	39	39					1																	35480750		2203	4300	6503	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.442C>G	1.37:g.35480750G>C	ENSP00000349708:p.Pro148Ala		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.P148A	ENST00000357182.4	37	c.442	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047309	0.55110	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531	T;T;T	0.33438	1.9;3.03;1.41	4.27	3.33	0.38152	TRASH (1);Zinc finger, MYM-type (1);	0.199708	0.43579	D	0.000549	T	0.47783	0.1464	M	0.63428	1.95	0.39504	D	0.968243	D;D	0.63046	0.989;0.992	D;P	0.67103	0.949;0.886	T	0.44892	-0.9298	10	0.20046	T	0.44	-4.2054	14.3011	0.66352	0.0:0.1498:0.8502:0.0	.	148;148	O95789;O95789-1	ZMYM6_HUMAN;.	A	148	ENSP00000362437:P148A;ENSP00000349708:P148A;ENSP00000391337:P148A	ENSP00000349708:P148A	P	-	1	0	ZMYM6	35253337	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.734000	0.55037	1.109000	0.41680	0.467000	0.42956	CCT	ZMYM6	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000163867		0.333	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0	48	0	G	NM_007167		35480750	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	C	C	35480750	G	C	35480750	3	2	89	1	0	0	0	0	1	0	0	0	17752	1174	41	5	3583	5	ZMYM6	1	35480750	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2243253	35480750	213769871	8	25374	97	2									
ZMYM6	9204	genome.wustl.edu	37	chr1	35480759	35480759	+	Missense_Mutation	SNP	T	T	C																															cacatccttaggatttaaaaTgtctctaaaaataaataaca																										TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:35480759T>C	ENST00000357182.4	-	5	660	c.433A>G	c.(433-435)Att>Gtt	p.I145V	ZMYM6_ENST00000373340.2_Missense_Mutation_p.I145V|ZMYM6_ENST00000487874.1_Missense_Mutation_p.I145V|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	145					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGATTTAAAATGTCTCTAAAA	0.348																																																	0													33	33	33					1																	35480759		2203	4298	6501	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"Zinc fingers, MYM type", "Zinc fingers, BED-type"	13050	protein-coding gene	gene with protein product	"zinc finger, BED-type containing 7"	613567	"zinc finger protein 258", "zinc finger, MYM-type containing 6"	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.433A>G	1.37:g.35480759T>C	ENSP00000349708:p.Ile145Val		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.I145V	ENST00000357182.4	37	c.433	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.890209	0.72524	.	.	ENSG00000163867	ENST00000373340;ENST00000357182;ENST00000415531	T;T;T	0.39406	1.34;2.37;1.08	4.27	4.27	0.50696	TRASH (1);Zinc finger, MYM-type (1);	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.79475	2.455	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.87578	0.994;0.998	T	0.68700	-0.5339	10	0.56958	D	0.05	-16.6544	13.8421	0.63446	0.0:0.0:0.0:1.0	.	145;145	O95789;O95789-1	ZMYM6_HUMAN;.	V	145	ENSP00000362437:I145V;ENSP00000349708:I145V;ENSP00000391337:I145V	ENSP00000349708:I145V	I	-	1	0	ZMYM6	35253346	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.751000	0.62169	1.927000	0.55829	0.383000	0.25322	ATT	ZMYM6	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000163867		0.348	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	-	0	46	0	T	NM_007167		35480759	-1	tier1	-	no_errors	ENST00000357182	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	C	C	35480759	T	C	35480759	3	2	89	1	0	0	0	0	1	0	0	0	17752	1464	51	4	3592	4	ZMYM6	1	35480759	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	9	35480759	213769862	9	25375	97	2									
CSF3R	1441	genome.wustl.edu	37	chr1	36931763	36931763	+	3'UTR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggctggatggagcatgatCtggtccttaaagtatgcaga	10	10	15	6	0	1	2	0	1	1	1	2	4	2	4	1	5	2	4	1	5	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:36931763C>G	ENST00000373106.1	-	0	3253				MRPS15_ENST00000373116.5_5'Flank|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Missense_Mutation_p.Q762H|CSF3R_ENST00000338937.5_3'UTR|CSF3R_ENST00000418048.2_3'UTR|CSF3R_ENST00000361632.4_3'UTR|CSF3R_ENST00000373103.1_3'UTR|CSF3R_ENST00000373104.1_Missense_Mutation_p.Q762H	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)						cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGAGCATGATCTGGTCCTTAA	0.493																																																	0													95	97	96					1																	36931763		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.*195G>C	1.37:g.36931763C>G				Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q762H	ENST00000373106.1	37	c.2286	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298676	0.23650	.	.	ENSG00000119535	ENST00000373104;ENST00000331941	T;T	0.51817	0.69;0.69	3.53	-2.05	0.07321	.	.	.	.	.	T	0.31796	0.0808	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.27157	-1.0082	8	0.62326	D	0.03	.	5.7247	0.18006	0.0:0.3063:0.4871:0.2066	.	762	Q99062-4	.	H	762	ENSP00000362196:Q762H;ENSP00000332180:Q762H	ENSP00000332180:Q762H	Q	-	3	2	CSF3R	36704350	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.277000	0.08502	-0.392000	0.07751	-0.145000	0.13849	CAG	CSF3R	-	NULL	ENSG00000119535		0.493	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0	76	0	C	NM_156039		36931763	-1	tier1	-	no_errors	ENST00000331941	ensembl	human	known	74_37	missense	12.50	63	9	SNP	0.000	G	G	36931763	C	G	36931763	1	3	89	0	1	0	0	0	0	0	0	0	3946	912	32	5		5	CSF3R	1	36931763	3'UTR	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1451004	36931763	212318858	10	25376											
GRIK3	2899	genome.wustl.edu	37	chr1	37270660	37270660	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagcacagagaggaccagCccggcggccaggacaatgaa	14	1	13	13	2	0	2	0	1	0	1	0	5	0	4	4	4	2	1	4	4	2	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:37270660C>A	ENST00000373091.3	-	15	2509	c.2493G>T	c.(2491-2493)ggG>ggT	p.G831G	GRIK3_ENST00000373093.4_Silent_p.G831G	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	831					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AGAGGACCAGCCCGGCGGCCA	0.607																																																	0													58	66	63					1																	37270660		2203	4300	6503	SO:0001819	synonymous_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2493G>T	1.37:g.37270660C>A			A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G831	ENST00000373091.3	37	c.2493	CCDS416.1	1																																																																																			GRIK3	-	pfam_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000163873		0.607	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1		0	55	0	C	NM_000831		37270660	-1			no_errors	ENST00000373091	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.995	A	A	37270660	C	A	37270660	2	1	89	1	0	0	0	0	0	0	0	1	6802	726	26	3		3	GRIK3	1	37270660	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	338897	37270660	211979961	11	25377											
MACF1	23499	genome.wustl.edu	37	chr1	39901420	39901420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggctctggatgaagccgtgtCccagtccacacaggtatgtg	8	9	13	11	1	1	1	0	1	1	0	3	2	3	2	3	3	1	2	3	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:39901420C>G	ENST00000372915.3	+	68	17750	c.17663C>G	c.(17662-17664)tCc>tGc	p.S5888C	MACF1_ENST00000545844.1_Missense_Mutation_p.S3930C|MACF1_ENST00000564288.1_Missense_Mutation_p.S5992C|MACF1_ENST00000539005.1_Missense_Mutation_p.S3800C|MACF1_ENST00000289893.4_Missense_Mutation_p.S4432C|MACF1_ENST00000567887.1_Missense_Mutation_p.S6029C|MACF1_ENST00000361689.2_Missense_Mutation_p.S3930C|MACF1_ENST00000317713.7_Missense_Mutation_p.S3930C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5888					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGCCGTGTCCCAGTCCACA	0.483																																																	0													82	82	82					1																	39901420		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17663C>G	1.37:g.39901420C>G	ENSP00000362006:p.Ser5888Cys		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.S3930C	ENST00000372915.3	37	c.11789		1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751717	0.89753	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.65549	-0.12;-0.04;-0.12;-0.16;0.07;1.04	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000015	T	0.80093	0.4560	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.993	T	0.80908	-0.1172	10	0.87932	D	0	.	19.9941	0.97377	0.0:1.0:0.0:0.0	.	5888;3930;3874	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	C	3930;5888;3930;3930;3800;4432	ENSP00000439537:S3930C;ENSP00000362006:S5888C;ENSP00000354573:S3930C;ENSP00000313438:S3930C;ENSP00000444364:S3800C;ENSP00000289893:S4432C	ENSP00000289893:S4432C	S	+	2	0	MACF1	39674007	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.776000	0.85560	2.729000	0.93468	0.557000	0.71058	TCC	MACF1	-	NULL	ENSG00000127603		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	-	0	48	0	C	NM_033044		39901420	1	tier1	-	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	G	G	39901420	C	G	39901420	3	3	89	1	0	0	0	0	1	0	0	0	9180	855	30	5	18198	5	MACF1	1	39901420	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2630760	39901420	209349201	12	25378											
ZMYND12	84217	genome.wustl.edu	37	chr1	42902173	42902173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggaagtagcctcctgaagtCctaatgtcctctgttccaaa	10	12	8	11	0	1	1	0	1	1	0	5	2	5	2	5	1	1	2	5	1	5	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:42902173C>G	ENST00000372565.3	-	5	905	c.636G>C	c.(634-636)agG>agC	p.R212S	ZMYND12_ENST00000433602.2_Missense_Mutation_p.R102S|ZMYND12_ENST00000475426.1_5'Flank	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	212						intracellular (GO:0005622)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCTGAAGTCCTAATGTCCT	0.423																																																	0													114	109	110					1																	42902173		2203	4300	6503	SO:0001583	missense	0			AK057384	CCDS467.1	1p34.1	2008-02-05			ENSG00000066185	ENSG00000066185		"Zinc fingers, MYND-type"	21192	protein-coding gene	gene with protein product						11230166	Standard	NM_032257		Approved	DKFZp434N2435	uc001chj.3	Q9H0C1	OTTHUMG00000007333	ENST00000372565.3:c.636G>C	1.37:g.42902173C>G	ENSP00000361646:p.Arg212Ser		Q5VUS6|Q8TC87|Q96M51	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.R212S	ENST00000372565.3	37	c.636	CCDS467.1	1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517454	0.44763	.	.	ENSG00000066185	ENST00000372565;ENST00000433602	T;T	0.62498	0.02;0.02	5.88	1.49	0.22878	Tetratricopeptide-like helical (1);	0.338379	0.37095	N	0.002259	T	0.44414	0.1292	L	0.54323	1.7	0.30460	N	0.774415	P;P	0.36144	0.539;0.473	B;B	0.35688	0.208;0.056	T	0.37686	-0.9695	10	0.06757	T	0.87	-8.061	3.0568	0.06187	0.2969:0.4205:0.0:0.2826	.	102;212	E9PFV0;Q9H0C1	.;ZMY12_HUMAN	S	212;102	ENSP00000361646:R212S;ENSP00000398340:R102S	ENSP00000361646:R212S	R	-	3	2	ZMYND12	42674760	0.997000	0.39634	1.000000	0.80357	0.857000	0.48899	0.261000	0.18442	0.834000	0.34852	0.655000	0.94253	AGG	ZMYND12	-	NULL	ENSG00000066185		0.423	ZMYND12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND12	HGNC	protein_coding	OTTHUMT00000019170.1	-	0	93	0	C	NM_032257		42902173	-1	tier1	-	no_errors	ENST00000372565	ensembl	human	known	74_37	missense	7.22	90	7	SNP	1.000	G	G	42902173	C	G	42902173	3	3	89	1	0	0	0	0	1	0	0	0	17755	854	30	5	477	5	ZMYND12	1	42902173	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3000753	42902173	206348448	13	25379											
TIE1	7075	genome.wustl.edu	37	chr1	43783580	43783580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatatcgctattgaatatgCcccctacgggaacctgctag	10	11	9	11	2	0	1	0	1	0	0	1	2	0	2	3	1	4	3	3	1	8	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:43783580C>T	ENST00000372476.3	+	17	2838	c.2759C>T	c.(2758-2760)gCc>gTc	p.A920V	TIE1_ENST00000433781.2_Missense_Mutation_p.A565V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	920	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A920V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTGAATATGCCCCCTACGGG	0.527																																																	2	Substitution - Missense(2)	urinary_tract(2)											280	295	290					1																	43783580		2203	4300	6503	SO:0001583	missense	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2759C>T	1.37:g.43783580C>T	ENSP00000361554:p.Ala920Val		B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A920V	ENST00000372476.3	37	c.2759	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.505865	0.96371	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.68331	-0.32;-0.32	6.06	6.06	0.98353	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001215	T	0.72350	0.3449	N	0.13198	0.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.76130	-0.3072	10	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	875;565;920	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	920;323;203;565	ENSP00000361554:A920V;ENSP00000411728:A565V	ENSP00000361553:A323V	A	+	2	0	TIE1	43556167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.757000	0.85209	2.882000	0.98803	0.655000	0.94253	GCC	TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000066056		0.527	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	-	0	68	0	C	NM_005424		43783580	1	tier1	-	no_errors	ENST00000372476	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	43783580	C	T	43783580	3	4	89	1	0	0	0	0	1	0	0	0	15940	739	26	3	2825	3	TIE1	1	43783580	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	881407	43783580	205467041	14	25380											
KDM4A	9682	genome.wustl.edu	37	chr1	44137335	44137335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggctccaaaaagaaatCatcttctagcctgggctctg	11	10	8	12	0	5	1	2	0	3	1	6	1	6	1	2	2	1	2	2	2	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:44137335C>T	ENST00000372396.3	+	11	1657	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	508					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAAAAGAAATCATCTTCTAGC	0.522																																																	0													98	99	99					1																	44137335		2203	4300	6503	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	22978	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 3A", "tudor domain containing 14A"	609764	"jumonji domain containing 2", "jumonji domain containing 2A"	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1523C>T	1.37:g.44137335C>T	ENSP00000361473:p.Ser508Leu		Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S508L	ENST00000372396.3	37	c.1523	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	C	4.165	0.029110	0.08054	.	.	ENSG00000066135	ENST00000372396	T	0.15834	2.39	5.48	0.149	0.14863	.	1.719510	0.02818	N	0.125255	T	0.14227	0.0344	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.27082	T	0.32	1.6286	5.7939	0.18375	0.0:0.5877:0.1276:0.2848	.	508	O75164	KDM4A_HUMAN	L	508	ENSP00000361473:S508L	ENSP00000361473:S508L	S	+	2	0	KDM4A	43909922	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	1.509000	0.35780	0.109000	0.17891	-0.143000	0.13931	TCA	KDM4A	-	NULL	ENSG00000066135		0.522	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	-	0	81	0	C	NM_014663		44137335	1	tier1	-	no_errors	ENST00000372396	ensembl	human	known	74_37	missense	13.11	53	8	SNP	0.000	T	T	44137335	C	T	44137335	3	4	89	1	0	0	0	0	1	0	0	0	8155	838	29	3	1561	3	KDM4A	1	44137335	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	353755	44137335	205113286	15	25381											
RNF220	55182	genome.wustl.edu	37	chr1	45110739	45110739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggagagagaggcacttcgGggcgcagtcctaaagcaagt	13	5	15	8	2	0	2	0	0	0	2	2	4	1	2	1	4	1	3	1	4	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:45110739G>A	ENST00000355387.2	+	10	1746	c.1296G>A	c.(1294-1296)cgG>cgA	p.R432R	TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000372247.2_Silent_p.R432R|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Silent_p.R219R|RNF220_ENST00000361799.2_Silent_p.R432R|RNF220_ENST00000480686.1_3'UTR			Q5VTB9	RN220_HUMAN	ring finger protein 220	432					protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						AGGCACTTCGGGGCGCAGTCC	0.597																																																	0													72	75	74					1																	45110739		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"RING-type (C3HC4) zinc fingers"	25552	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 164"	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1296G>A	1.37:g.45110739G>A			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	Silent	SNP	superfamily_Peptidase_M20_dimer,pfscan_Znf_RING	p.R432	ENST00000355387.2	37	c.1296	CCDS510.1	1																																																																																			RNF220	-	superfamily_Peptidase_M20_dimer	ENSG00000187147		0.597	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	-	0	52	0	G	NM_018150		45110739	1	tier1	-	no_errors	ENST00000355387	ensembl	human	known	74_37	silent	6.85	68	5	SNP	1.000	A	A	45110739	G	A	45110739	2	1	89	1	0	0	0	0	0	0	0	1	13528	1219	43	3		3	RNF220	1	45110739	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	973404	45110739	204139882	16	25382											
MCOLN3	55283	genome.wustl.edu	37	chr1	85506834	85506834	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgaaagctaccaccatCtggttacttagcccaaataa	13	11	5	12	0	1	1	0	1	1	0	2	1	2	1	4	1	4	2	4	1	6	5	rs374738596		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:85506834C>T	ENST00000370589.2	-	3	307	c.255G>A	c.(253-255)caG>caA	p.Q85Q	MCOLN3_ENST00000341115.4_Intron|MCOLN3_ENST00000370587.1_Silent_p.Q85Q|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	85					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTACCACCATCTGGTTACTTA	0.408																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	107	96	100		255	4.8	1	1		100	0,8600		0,0,4300	no	coding-synonymous	MCOLN3	NM_018298.9		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		85/554	85506834	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"Voltage-gated ion channels / Transient receptor potential cation channels"	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.255G>A	1.37:g.85506834C>T			Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	pfam_PKD1_2_channel	p.Q85	ENST00000370589.2	37	c.255	CCDS701.1	1																																																																																			MCOLN3	-	NULL	ENSG00000055732		0.408	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	-	0	37	0	C	NM_018298		85506834	-1	tier1	-	no_errors	ENST00000370589	ensembl	human	known	74_37	silent	17.02	39	8	SNP	1.000	T	T	85506834	C	T	85506834	2	4	89	1	0	0	0	0	0	0	0	1	9435	912	32	3		3	MCOLN3	1	85506834	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	40396095	85506834	163743787	17	25383											
ODF2L	57489	genome.wustl.edu	37	chr1	86820363	86820363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttattttctgcgtccatCtgttctaattttctttttac	5	24	3	9	1	5	0	0	0	5	0	6	0	6	0	1	0	2	1	1	0	3	11			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:86820363C>T	ENST00000359242.3	-	16	1898	c.1617G>A	c.(1615-1617)caG>caA	p.Q539Q	ODF2L_ENST00000317336.7_Silent_p.Q539Q|ODF2L_ENST00000294678.2_Silent_p.Q523Q|ODF2L_ENST00000370566.3_Silent_p.Q457Q|ODF2L_ENST00000394731.1_Silent_p.Q379Q|ODF2L_ENST00000370567.1_Silent_p.Q510Q|ODF2L_ENST00000524695.1_5'Flank	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	539						centrosome (GO:0005813)				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CTGCGTCCATCTGTTCTAATT	0.308																																																	0													96	95	95					1																	86820363		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS30763.1, CCDS41354.1, CCDS30763.2, CCDS41354.2, CCDS53339.1	1p22.3	2008-02-05			ENSG00000122417	ENSG00000122417			29225	protein-coding gene	gene with protein product						10574462	Standard	NM_020729		Approved	KIAA1229	uc001dll.2	Q9ULJ1	OTTHUMG00000010080	ENST00000359242.3:c.1617G>A	1.37:g.86820363C>T			A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31	Silent	SNP	NULL	p.Q539	ENST00000359242.3	37	c.1617	CCDS41354.2	1	.	.	.	.	.	.	.	.	.	.	C	7.104	0.574599	0.13623	.	.	ENSG00000122417	ENST00000459999	.	.	.	6.17	4.31	0.51392	.	.	.	.	.	T	0.45196	0.1330	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43925	-0.9361	4	.	.	.	-10.4934	8.3674	0.32395	0.1275:0.7373:0.0:0.1352	.	.	.	.	K	306	.	.	R	-	2	0	ODF2L	86592951	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	0.656000	0.24948	0.933000	0.37291	0.655000	0.94253	AGA	ODF2L	-	NULL	ENSG00000122417		0.308	ODF2L-001	KNOWN	basic|CCDS	protein_coding	ODF2L	HGNC	protein_coding	OTTHUMT00000027873.2	-	0	45	0	C			86820363	-1	tier1	-	no_errors	ENST00000317336	ensembl	human	known	74_37	silent	17.28	67	14	SNP	1.000	T	T	86820363	C	T	86820363	2	4	89	1	0	0	0	0	0	0	0	1	10867	912	32	3		3	ODF2L	1	86820363	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1313529	86820363	162430258	18	25384											
KCNC4	3749	genome.wustl.edu	37	chr1	110765753	110765753	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacagagcccatcctgacCtacatcgagggcgtatgtgt	10	8	12	11	2	0	3	0	1	0	2	2	5	1	3	3	1	2	1	3	1	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:110765753C>G	ENST00000369787.3	+	2	873	c.846C>G	c.(844-846)acC>acG	p.T282T	KCNC4_ENST00000438661.2_Silent_p.T282T|KCNC4_ENST00000413138.3_Silent_p.T282T|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	282					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCATCCTGACCTACATCGAGG	0.577																																																	0													333	247	276					1																	110765753		2203	4300	6503	SO:0001819	synonymous_variant	0			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6236	protein-coding gene	gene with protein product		176265	"chromosome 1 open reading frame 30"	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.846C>G	1.37:g.110765753C>G			Q3MIM4|Q5TBI6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.T282	ENST00000369787.3	37	c.846	CCDS821.1	1																																																																																			KCNC4	-	NULL	ENSG00000116396		0.577	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	HGNC	protein_coding	OTTHUMT00000052146.2	-	0	33	0	C	NM_001039574		110765753	1	tier1	-	no_errors	ENST00000369787	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	G	G	110765753	C	G	110765753	2	3	89	1	0	0	0	0	0	0	0	1	8044	668	24	5		5	KCNC4	1	110765753	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	23945390	110765753	138484868	19	25385											
LCE1F	353137	genome.wustl.edu	37	chr1	152749016	152749016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtggctccagctctGggggctgctgcagctctggg	2	10	17	12	0	2	0	0	0	2	0	3	0	3	0	1	4	5	8	1	4	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:152749016G>A	ENST00000334371.2	+	1	169	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	57					keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCAGCTCTGGGGGCTGCTG	0.682																																																	0													33	37	36					1																	152749016		2202	4300	6502	SO:0001583	missense	0				CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"Late cornified envelopes"	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.169G>A	1.37:g.152749016G>A	ENSP00000334187:p.Gly57Arg			Missense_Mutation	SNP	NULL	p.G57R	ENST00000334371.2	37	c.169	CCDS1023.1	1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920001	0.33908	.	.	ENSG00000240386	ENST00000334371	T	0.06218	3.33	4.1	4.1	0.47936	.	.	.	.	.	T	0.15955	0.0384	M	0.81112	2.525	0.30334	N	0.786325	D	0.89917	1.0	D	0.91635	0.999	T	0.00679	-1.1613	9	0.87932	D	0	.	12.0222	0.53350	0.0:0.0:1.0:0.0	.	57	Q5T754	LCE1F_HUMAN	R	57	ENSP00000334187:G57R	ENSP00000334187:G57R	G	+	1	0	LCE1F	151015640	0.945000	0.32115	0.939000	0.37840	0.983000	0.72400	1.635000	0.37134	2.272000	0.75746	0.557000	0.71058	GGG	LCE1F	-	NULL	ENSG00000240386		0.682	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1F	HGNC	protein_coding	OTTHUMT00000034523.2	-	0	130	0	G	NM_178354		152749016	1	tier1	-	no_errors	ENST00000334371	ensembl	human	known	74_37	missense	14.71	145	25	SNP	0.980	A	A	152749016	G	A	152749016	3	1	89	1	0	0	0	0	1	0	0	0	8692	1348	47	3	171	3	LCE1F	1	152749016	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	41983263	152749016	96501605	20	25386											
NUP210L	91181	genome.wustl.edu	37	chr1	153994695	153994695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatgctctacagcaacagGaatataatctgccatgcctg	12	9	9	11	0	2	0	0	0	2	0	2	1	2	1	2	2	6	3	2	2	5	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:153994695G>T	ENST00000368559.3	-	32	4494	c.4423C>A	c.(4423-4425)Cct>Act	p.P1475T	NUP210L_ENST00000271854.3_Missense_Mutation_p.P1475T|NUP210L_ENST00000368553.1_Missense_Mutation_p.P408T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1475					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACAGCAACAGGAATATAATCT	0.488																																																	0													128	126	127					1																	153994695		2022	4188	6210	SO:0001583	missense	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4423C>A	1.37:g.153994695G>T	ENSP00000357547:p.Pro1475Thr		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.P1475T	ENST00000368559.3	37	c.4423	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110449	0.77210	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.23950	3.47;1.88;3.21	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000003	T	0.37945	0.1022	M	0.69358	2.11	0.42936	D	0.994338	D;D	0.89917	1.0;1.0	D;D	0.85130	0.986;0.997	T	0.05989	-1.0852	10	0.11182	T	0.66	-19.2793	18.4451	0.90681	0.0:0.0:1.0:0.0	.	1475;1475	E7EP56;Q5VU65	.;P210L_HUMAN	T	1475;408;1475	ENSP00000357547:P1475T;ENSP00000357541:P408T;ENSP00000271854:P1475T	ENSP00000271854:P1475T	P	-	1	0	NUP210L	152261319	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	4.343000	0.59348	2.894000	0.99253	0.591000	0.81541	CCT	NUP210L	-	NULL	ENSG00000143552		0.488	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	-	0	92	0	G	NM_207308		153994695	-1	tier1	-	no_errors	ENST00000368559	ensembl	human	known	74_37	missense	8.99	81	8	SNP	1.000	T	T	153994695	G	T	153994695	3	4	89	1	0	0	0	0	1	0	0	0	10800	1174	41	3	1279	3	NUP210L	1	153994695	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1245679	153994695	95255926	21	25387											
EFNA4	1945	genome.wustl.edu	37	chr1	155039318	155039318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccccgagacgtttgctttgTacatggtggactggccaggc	6	10	14	11	2	0	1	0	0	0	1	0	3	0	2	3	4	2	3	3	4	1	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:155039318T>C	ENST00000368409.3	+	2	319	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	EFNA3_ENST00000505139.1_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Missense_Mutation_p.Y76H|EFNA4_ENST00000359751.4_Missense_Mutation_p.Y76H	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	76	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTTTGCTTTGTACATGGTGGA	0.627																																																	0													42	47	45					1																	155039318		2203	4300	6503	SO:0001583	missense	0			AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"Ephrins"	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.226T>C	1.37:g.155039318T>C	ENSP00000357394:p.Tyr76His		C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.Y76H	ENST00000368409.3	37	c.226	CCDS1089.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407710	0.83340	.	.	ENSG00000243364	ENST00000368409;ENST00000359751;ENST00000427683	T;T;T	0.63580	-0.05;-0.05;-0.05	5.31	5.31	0.75309	Cupredoxin (2);	0.065668	0.64402	D	0.000007	T	0.76659	0.4018	M	0.87269	2.87	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.992	D;D;P	0.77004	0.989;0.93;0.905	T	0.81560	-0.0877	10	0.66056	D	0.02	-30.5454	13.2056	0.59793	0.0:0.0:0.0:1.0	.	76;76;76	P52798-2;P52798;G3XAK2	.;EFNA4_HUMAN;.	H	76	ENSP00000357394:Y76H;ENSP00000352789:Y76H;ENSP00000414378:Y76H	ENSP00000352789:Y76H	Y	+	1	0	EFNA4	153305942	0.996000	0.38824	0.895000	0.35142	0.871000	0.50021	4.851000	0.62896	2.014000	0.59158	0.459000	0.35465	TAC	EFNA4	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	ENSG00000243364		0.627	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EFNA4	HGNC	protein_coding	OTTHUMT00000085421.2		0	112	0	T	NM_005227		155039318	1			no_errors	ENST00000427683	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.995	C	C	155039318	T	C	155039318	3	2	89	1	0	0	0	0	1	0	0	0	4967	1638	57	4	232	4	EFNA4	1	155039318	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	1044623	155039318	94211303	22	25388											
BCAN	63827	genome.wustl.edu	37	chr1	156621307	156621307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctccaacccagcctctGatggactagaggctatcgtc	9	8	9	15	1	1	2	0	1	1	1	4	3	2	3	4	2	3	1	4	2	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:156621307G>C	ENST00000329117.5	+	7	1459	c.1123G>C	c.(1123-1125)Gat>Cat	p.D375H	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.D375H	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	375					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					cccagcctcTGATGGACTAGA	0.577																																																	0													47	46	46					1																	156621307		2203	4300	6503	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1123G>C	1.37:g.156621307G>C	ENSP00000331210:p.Asp375His		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom	p.D375H	ENST00000329117.5	37	c.1123	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342532	0.61073	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.17213	2.29;2.98	5.17	3.3	0.37823	.	0.179610	0.34268	N	0.004117	T	0.15219	0.0367	L	0.29908	0.895	0.44531	D	0.997489	P;D	0.71674	0.826;0.998	B;D	0.66716	0.341;0.946	T	0.01914	-1.1248	10	0.62326	D	0.03	-14.8327	10.3246	0.43785	0.1601:0.0:0.8399:0.0	.	375;375	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	H	314;375;375	ENSP00000331210:D375H;ENSP00000354925:D375H	ENSP00000255029:D314H	D	+	1	0	BCAN	154887931	1.000000	0.71417	0.977000	0.42913	0.892000	0.51952	3.720000	0.54933	0.766000	0.33244	-0.136000	0.14681	GAT	BCAN	-	NULL	ENSG00000132692		0.577	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	-	0	81	0	G	NM_021948		156621307	1	tier1	-	no_errors	ENST00000329117	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.987	C	C	156621307	G	C	156621307	3	2	89	1	0	0	0	0	1	0	0	0	1346	1290	45	5	1145	5	BCAN	1	156621307	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1581989	156621307	92629314	23	25389											
BCAN	63827	genome.wustl.edu	37	chr1	156621337	156621337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctatcgtcacagtgacaGagaccctggaggaactgcag	12	6	13	10	1	1	2	1	1	0	1	2	5	1	4	1	3	2	2	1	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:156621337G>A	ENST00000329117.5	+	7	1489	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E385K	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	385	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGTGACAGAGACCCTGGA	0.607																																																	0													65	61	62					1																	156621337		2203	4300	6503	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1153G>A	1.37:g.156621337G>A	ENSP00000331210:p.Glu385Lys		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom	p.E385K	ENST00000329117.5	37	c.1153	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.933930	0.92458	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.15372	2.43;3.14	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000009	T	0.25195	0.0612	L	0.36672	1.1	0.46279	D	0.998966	D;D	0.76494	0.999;0.986	D;P	0.80764	0.994;0.886	T	0.01428	-1.1357	10	0.72032	D	0.01	-18.8758	17.4015	0.87461	0.0:0.0:1.0:0.0	.	385;385	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	K	324;385;385	ENSP00000331210:E385K;ENSP00000354925:E385K	ENSP00000255029:E324K	E	+	1	0	BCAN	154887961	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.890000	0.69774	2.692000	0.91855	0.655000	0.94253	GAG	BCAN	-	NULL	ENSG00000132692		0.607	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	-	0	88	0	G	NM_021948		156621337	1	tier1	-	no_errors	ENST00000329117	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	A	A	156621337	G	A	156621337	3	1	89	1	0	0	0	0	1	0	0	0	1346	943	33	3	1175	3	BCAN	1	156621337	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	30	156621337	92629284	24	25390											
ARHGEF11	9826	genome.wustl.edu	37	chr1	156911690	156911690	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctgggctggctcccGgggacctgggggtggaggat	3	7	20	11	1	0	0	0	0	0	0	1	3	1	3	3	8	1	3	3	8	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:156911690G>T	ENST00000361409.2	-	33	4040	c.3298C>A	c.(3298-3300)Cgg>Agg	p.R1100R	ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Silent_p.R516R|ARHGEF11_ENST00000368194.3_Silent_p.R1140R	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1100					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCTCCCGGGGACCTGGG	0.642																																																	0													41	52	48					1																	156911690		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.3298C>A	1.37:g.156911690G>T			D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain	p.R1140	ENST00000361409.2	37	c.3418	CCDS1162.1	1																																																																																			ARHGEF11	-	NULL	ENSG00000132694		0.642	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	-	0	54	0	G	NM_198236		156911690	-1	tier1	-	no_errors	ENST00000368194	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.983	T	T	156911690	G	T	156911690	2	4	89	1	0	0	0	0	0	0	0	1	896	1115	39	2		2	ARHGEF11	1	156911690	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	290353	156911690	92338931	25	25391											
CADM3	57863	genome.wustl.edu	37	chr1	159163319	159163319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaagcctgcagcccggctCacctggagaaagggtgacca	11	4	13	13	1	1	2	1	1	0	1	1	3	1	2	4	3	4	3	4	3	2	0	rs554827373		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:159163319C>T	ENST00000368125.4	+	4	646	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CADM3_ENST00000368124.4_Silent_p.L197L|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	163	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CAGCCCGGCTCACCTGGAGAA	0.522													C|||	1	0.000199681	0	0	5008	,	,		20618	0.001		0	False		,,,				2504	0																0													77	74	75					1																	159163319		2203	4300	6503	SO:0001819	synonymous_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.489C>T	1.37:g.159163319C>T			Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom	p.L197	ENST00000368125.4	37	c.591	CCDS44251.1	1																																																																																			CADM3	-	pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000162706		0.522	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	-	0	60	0	C	NM_021189		159163319	1	tier1	-	no_errors	ENST00000368124	ensembl	human	known	74_37	silent	13.89	31	5	SNP	1.000	T	T	159163319	C	T	159163319	2	4	89	1	0	0	0	0	0	0	0	1	2575	813	29	3		3	CADM3	1	159163319	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2251629	159163319	90087302	26	25392											
ATP1A2	477	genome.wustl.edu	37	chr1	160098826	160098826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgtctcgaattgctggtCtctgcaaccgcgccgtcttc	4	12	9	16	4	3	0	0	0	3	0	6	1	3	0	3	1	3	2	3	1	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:160098826C>T	ENST00000361216.3	+	10	1362	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	ATP1A2_ENST00000392233.3_Missense_Mutation_p.L425F	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	425					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AATTGCTGGTCTCTGCAACCG	0.572																																																	0													46	38	41					1																	160098826		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1273C>T	1.37:g.160098826C>T	ENSP00000354490:p.Leu425Phe		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.L425F	ENST00000361216.3	37	c.1273	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274176	0.80580	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.83335	-1.71;-1.71	4.13	4.13	0.48395	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.068496	0.64402	D	0.000010	D	0.90974	0.7162	M	0.88450	2.955	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.77004	0.989;0.981;0.989	D	0.92663	0.6143	10	0.87932	D	0	.	15.6667	0.77236	0.0:1.0:0.0:0.0	.	425;325;425	B1AKY9;F5GXJ7;P50993	.;.;AT1A2_HUMAN	F	425;425;128	ENSP00000354490:L425F;ENSP00000376066:L425F	ENSP00000354490:L425F	L	+	1	0	ATP1A2	158365450	0.998000	0.40836	0.999000	0.59377	0.963000	0.63663	3.835000	0.55805	2.306000	0.77630	0.561000	0.74099	CTC	ATP1A2	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2		0	96	0	C	NM_000702		160098826	1			no_errors	ENST00000361216	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	160098826	C	T	160098826	3	4	89	1	0	0	0	0	1	0	0	0	1130	913	32	3	1311	3	ATP1A2	1	160098826	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	935507	160098826	89151795	27	25393											
FMO1	2326	genome.wustl.edu	37	chr1	171227264	171227264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgggagctggggtcaGcggcctggcctccatcaagt	6	9	15	11	1	2	0	2	0	0	0	3	1	3	1	3	5	2	1	3	5	1	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:171227264G>T	ENST00000354841.4	+	1	169	c.38G>T	c.(37-39)aGc>aTc	p.S13I	FMO1_ENST00000402921.2_Missense_Mutation_p.S13I|FMO1_ENST00000367750.3_Missense_Mutation_p.S13I|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	13					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GCTGGGGTCAGCGGCCTGGCC	0.567																																																	0													76	74	75					1																	171227264		2203	4300	6503	SO:0001583	missense	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.38G>T	1.37:g.171227264G>T	ENSP00000346901:p.Ser13Ile		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.S13I	ENST00000354841.4	37	c.38	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281957	0.59867	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.56	3.64	0.41730	.	0.343476	0.35262	N	0.003336	T	0.81235	0.4780	H	0.97732	4.065	0.09310	N	1	P;D;D	0.89917	0.89;1.0;0.988	P;D;P	0.73380	0.771;0.98;0.879	T	0.79339	-0.1844	10	0.87932	D	0	-0.0789	15.0468	0.71833	0.0:0.2701:0.7299:0.0	.	13;13;13	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	I	13	ENSP00000356724:S13I;ENSP00000406982:S13I;ENSP00000385543:S13I;ENSP00000346901:S13I	ENSP00000346901:S13I	S	+	2	0	FMO1	169493888	0.982000	0.34865	0.636000	0.29352	0.719000	0.41307	3.756000	0.55205	0.663000	0.31027	0.655000	0.94253	AGC	FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000010932		0.567	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	-	0	80	0	G	NM_002021		171227264	1	tier1	-	no_errors	ENST00000354841	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.138	T	T	171227264	G	T	171227264	3	4	89	1	0	0	0	0	1	0	0	0	5976	971	34	3	40	3	FMO1	1	171227264	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	11128438	171227264	78023357	28	25394											
SMG7	9887	genome.wustl.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A																															aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt																										TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																																	1	Unknown(1)	skin(1)																																								SO:0001589	frameshift_variant	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	pfam_EST1	p.M803fs	ENST00000347615.2	37	c.2398_2399	CCDS1355.1	1																																																																																			SMG7	-	NULL	ENSG00000116698		0.45	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1		0	67	0	-	NM_014837		183515267	1	tier1		no_errors	ENST00000507469	ensembl	human	known	74_37	frame_shift_ins	10.64	42	5	INS	1.000:1.000	A	A	183515267	-	A	183515266	7	5	89	1	0	1	1	0	0	0	0	0	14843	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-L5-A8NQ-01A-11D-A36J-09	12288002	183515266	65735355	29	25395											
CFH	3075	genome.wustl.edu	37	chr1	196715031	196715031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcagtatatgctccagcttCatcagttgagtaccaatgcc	10	12	8	11	0	3	1	3	1	0	0	4	1	4	1	3	0	4	5	3	0	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:196715031C>T	ENST00000367429.4	+	21	3635	c.3395C>T	c.(3394-3396)tCa>tTa	p.S1132L		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1132	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCTCCAGCTTCATCAGTTGAG	0.413																																																	0													103	99	100					1																	196715031		2202	4281	6483	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3395C>T	1.37:g.196715031C>T	ENSP00000356399:p.Ser1132Leu		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S1132L	ENST00000367429.4	37	c.3395	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	16.24	3.066975	0.55539	.	.	ENSG00000000971	ENST00000367429	T	0.68025	-0.3	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.83727	0.5317	M	0.91717	3.235	0.26882	N	0.967529	D	0.76494	0.999	D	0.70016	0.967	T	0.76934	-0.2775	9	0.54805	T	0.06	.	11.3403	0.49529	0.1811:0.8189:0.0:0.0	.	1132	P08603	CFAH_HUMAN	L	1132	ENSP00000356399:S1132L	ENSP00000356399:S1132L	S	+	2	0	CFH	194981654	0.003000	0.15002	0.047000	0.18901	0.005000	0.04900	1.753000	0.38359	2.502000	0.84385	0.549000	0.68633	TCA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.413	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2		0	124	0	C	NM_000186		196715031	1			no_errors	ENST00000367429	ensembl	human	known	74_37	missense	6.80	96	7	SNP	0.024	T	T	196715031	C	T	196715031	3	4	89	1	0	0	0	0	1	0	0	0	3290	838	29	3	3495	3	CFH	1	196715031	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	13199765	196715031	52535590	30	25396											
TRAF5	7188	genome.wustl.edu	37	chr1	211533401	211533401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttattgcaaaaaggatgtgGtagtcatcaatctacaggtg	13	13	10	5	0	3	0	2	0	1	0	3	1	3	1	0	3	2	2	0	3	6	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:211533401G>T	ENST00000261464.5	+	5	580	c.526G>T	c.(526-528)Gta>Tta	p.V176L	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000336184.2_Missense_Mutation_p.V176L|TRAF5_ENST00000367004.3_Missense_Mutation_p.V176L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	176					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		AAAGGATGTGGTAGTCATCAA	0.433																																																	0													115	106	109					1																	211533401		2203	4300	6503	SO:0001583	missense	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"RING-type (C3HC4) zinc fingers"	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.526G>T	1.37:g.211533401G>T	ENSP00000261464:p.Val176Leu		B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V176L	ENST00000261464.5	37	c.526	CCDS1497.1	1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844371	0.32606	.	.	ENSG00000082512	ENST00000336184;ENST00000261464;ENST00000367004	T;T;T	0.20598	2.06;2.06;2.06	5.09	4.17	0.49024	Zinc finger, TRAF-type (1);TRAF-like (1);	0.522698	0.19843	N	0.104819	T	0.18467	0.0443	L	0.42632	1.34	0.28446	N	0.916585	B;P	0.36354	0.202;0.549	B;B	0.40134	0.197;0.32	T	0.07849	-1.0751	10	0.08599	T	0.76	-25.298	10.9177	0.47146	0.1528:0.0:0.8472:0.0	.	187;176	B4E0A2;O00463	.;TRAF5_HUMAN	L	176	ENSP00000336825:V176L;ENSP00000261464:V176L;ENSP00000355971:V176L	ENSP00000261464:V176L	V	+	1	0	TRAF5	209600024	0.999000	0.42202	0.602000	0.28890	0.992000	0.81027	2.501000	0.45389	1.133000	0.42147	0.591000	0.81541	GTA	TRAF5	-	superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF	ENSG00000082512		0.433	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	-	0	56	0	G	NM_004619		211533401	1	tier1	-	no_errors	ENST00000261464	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.222	T	T	211533401	G	T	211533401	3	4	89	1	0	0	0	0	1	0	0	0	16492	1261	44	3	540	3	TRAF5	1	211533401	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	14818370	211533401	37717220	31	25397											
OBSCN	84033	genome.wustl.edu	37	chr1	228529252	228529252	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaggcacggacagccattAtcaagagctcgtgggtgaag	11	7	14	9	2	1	2	1	1	0	1	2	3	1	3	1	3	3	3	1	3	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:228529252A>T	ENST00000422127.1	+	74	18015	c.17971A>T	c.(17971-17973)Atc>Ttc	p.I5991F	OBSCN_ENST00000366707.4_Missense_Mutation_p.I3625F|OBSCN_ENST00000570156.2_Missense_Mutation_p.I6948F|OBSCN_ENST00000366709.4_Missense_Mutation_p.I3110F|OBSCN_ENST00000284548.11_Missense_Mutation_p.I5991F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5991	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGCCATTATCAAGAGCTC	0.652																																																	0													46	58	54					1																	228529252		2177	4270	6447	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17971A>T	1.37:g.228529252A>T	ENSP00000409493:p.Ile5991Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.I5991F	ENST00000422127.1	37	c.17971	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.20|18.20	3.572130|3.572130	0.65765|0.65765	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709|ENST00000441106	T;T;T;T|.	0.11930|.	2.73;2.73;2.73;2.73|.	5.48|5.48	4.36|4.36	0.52297|0.52297	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.138751|.	0.47093|.	D|.	0.000258|.	T|T	0.65407|0.65407	0.2688|0.2688	M|M	0.69358|0.69358	2.11|2.11	0.42535|0.42535	D|D	0.993055|0.993055	D;D|.	0.54397|.	0.966;0.958|.	P;P|.	0.53809|.	0.603;0.735|.	T|T	0.66006|0.66006	-0.6030|-0.6030	10|5	0.45353|.	T|.	0.12|.	.|.	10.7718|10.7718	0.46327|0.46327	0.9257:0.0:0.0743:0.0|0.9257:0.0:0.0743:0.0	.|.	5991;5991|.	Q5VST9;Q5VST9-3|.	OBSCN_HUMAN;.|.	F|F	5991;5991;3625;3110|607	ENSP00000284548:I5991F;ENSP00000409493:I5991F;ENSP00000355668:I3625F;ENSP00000355670:I3110F|.	ENSP00000284548:I5991F|.	I|Y	+|+	1|2	0|0	OBSCN|OBSCN	226595875|226595875	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.071000|0.071000	0.16799|0.16799	3.615000|3.615000	0.54167|0.54167	2.086000|2.086000	0.62901|0.62901	0.460000|0.460000	0.39030|0.39030	ATC|TAT	OBSCN	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000154358		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	124	0	A	NM_052843		228529252	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	11.59	122	16	SNP	1.000	T	T	228529252	A	T	228529252	3	4	89	1	0	0	0	0	1	0	0	0	10851	449	16	5	18261	5	OBSCN	1	228529252	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	16995851	228529252	20721369	32	25398											
KCNK1	3775	genome.wustl.edu	37	chr1	233749986	233749986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccgctcggcctggtgcttCggcttcctggtgctgggcta	2	11	14	14	3	0	0	0	0	0	0	3	0	1	0	3	5	2	5	3	5	1	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:233749986C>T	ENST00000366621.3	+	1	237	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	23					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	CCTGGTGCTTCGGCTTCCTGG	0.687																																																	0													33	33	33					1																	233749986		2203	4300	6503	SO:0001819	synonymous_variant	0			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.69C>T	1.37:g.233749986C>T			Q13307|Q5T5E8	Silent	SNP	pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.F23	ENST00000366621.3	37	c.69	CCDS1599.1	1																																																																																			KCNK1	-	pirsf_2pore_dom_K_chnl_TASK	ENSG00000135750		0.687	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1		0	26	0	C	NM_002245		233749986	1			no_errors	ENST00000366621	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.998	T	T	233749986	C	T	233749986	2	4	89	1	0	0	0	0	0	0	0	1	8085	883	31	1		1	KCNK1	1	233749986	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5220734	233749986	15500635	33	25399											
RYR2	6262	genome.wustl.edu	37	chr1	237893570	237893570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttcaggcatcgggctGtcaatctctttcttcaggga	7	14	9	11	1	5	0	3	0	2	0	7	1	5	1	1	3	1	2	1	3	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:237893570G>T	ENST00000366574.2	+	77	11166	c.10849G>T	c.(10849-10851)Gtc>Ttc	p.V3617F	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.V3601F|RYR2_ENST00000360064.6_Missense_Mutation_p.V3615F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3617					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V3615L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATCGGGCTGTCAATCTCTT	0.333																																																	1	Substitution - Missense(1)	lung(1)											77	72	74					1																	237893570		1827	4078	5905	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10849G>T	1.37:g.237893570G>T	ENSP00000355533:p.Val3617Phe		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.V3615F	ENST00000366574.2	37	c.10843	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217469	0.79352	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96913	-4.17;-4.14;-4.17	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000028	D	0.94827	0.8329	L	0.29908	0.895	0.80722	D	1	P;D	0.58268	0.911;0.982	P;P	0.50970	0.467;0.655	D	0.95050	0.8186	10	0.72032	D	0.01	-20.9798	14.6196	0.68574	0.0:0.0:0.8542:0.1458	.	572;3617	B4DGV4;Q92736	.;RYR2_HUMAN	F	3617;3615;3601;572	ENSP00000355533:V3617F;ENSP00000353174:V3615F;ENSP00000443798:V3601F	ENSP00000353174:V3615F	V	+	1	0	RYR2	235960193	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.913000	0.39956	2.757000	0.94681	0.585000	0.79938	GTC	RYR2	-	NULL	ENSG00000198626		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	91	0	G	NM_001035		237893570	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	237893570	G	T	237893570	3	4	89	1	0	0	0	0	1	0	0	0	13814	1377	48	3	11155	3	RYR2	1	237893570	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4143584	237893570	11357051	34	25400											
FMN2	56776	genome.wustl.edu	37	chr1	240458161	240458161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtggttgacctggagaCccttcaagctctctatgaga	8	13	10	10	0	3	3	1	2	2	2	4	5	3	3	2	2	1	2	2	2	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:240458161C>A	ENST00000319653.9	+	8	4423	c.4193C>A	c.(4192-4194)aCc>aAc	p.T1398N	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1398	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GACCTGGAGACCCTTCAAGCT	0.363																																																	0													143	143	143					1																	240458161		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4193C>A	1.37:g.240458161C>A	ENSP00000318884:p.Thr1398Asn		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.T1398N	ENST00000319653.9	37	c.4193	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269814	0.80469	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000537355	T;T	0.18960	2.18;2.18	5.27	5.27	0.74061	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000006	T	0.41558	0.1164	L	0.46614	1.455	0.80722	D	1	B;D;P	0.89917	0.073;1.0;0.87	B;D;P	0.91635	0.075;0.999;0.8	T	0.12811	-1.0533	10	0.59425	D	0.04	.	17.4248	0.87524	0.0:1.0:0.0:0.0	.	44;27;1398	F5H2C1;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	N	1398;44;25	ENSP00000318884:T1398N;ENSP00000388922:T44N	ENSP00000318884:T1398N	T	+	2	0	FMN2	238524784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.372000	0.73123	2.640000	0.89533	0.650000	0.86243	ACC	FMN2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000155816		0.363	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	95	0	C	XM_371352		240458161	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	8.16	90	8	SNP	1.000	A	A	240458161	C	A	240458161	3	1	89	1	0	0	0	0	1	0	0	0	5972	507	18	3	4223	3	FMN2	1	240458161	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2564591	240458161	8792460	35	25401											
PLD5	200150	genome.wustl.edu	37	chr1	242263986	242263986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaatataagctgctccAtctgtcaccatgtacttgtt	10	14	5	12	0	2	0	1	0	1	0	3	0	3	0	3	0	4	4	3	0	5	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr1:242263986A>T	ENST00000536534.2	-	9	1579	c.1338T>A	c.(1336-1338)gaT>gaA	p.D446E	PLD5_ENST00000427495.1_Missense_Mutation_p.D384E|PLD5_ENST00000442594.2_Missense_Mutation_p.D354E			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	446	PLD phosphodiesterase 2.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AAGCTGCTCCATCTGTCACCA	0.478																																																	0													236	194	208					1																	242263986		2203	4300	6503	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1338T>A	1.37:g.242263986A>T	ENSP00000440896:p.Asp446Glu		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.D446E	ENST00000536534.2	37	c.1338	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300953	0.60195	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	D;D;D	0.83163	-1.69;-1.69;-1.69	5.64	-4.43	0.03568	Phospholipase D/Transphosphatidylase (1);	0.047339	0.85682	D	0.000000	T	0.81626	0.4862	L	0.33189	0.99	0.43084	D	0.994746	D;D;P	0.76494	0.999;0.999;0.946	D;D;P	0.71870	0.975;0.912;0.706	T	0.78388	-0.2223	10	0.25751	T	0.34	-13.6585	12.8503	0.57855	0.4893:0.0:0.5107:0.0	.	354;446;384	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	E	384;354;446	ENSP00000401285:D384E;ENSP00000414188:D354E;ENSP00000440896:D446E	ENSP00000401285:D384E	D	-	3	2	PLD5	240330609	0.899000	0.30636	0.945000	0.38365	0.997000	0.91878	0.091000	0.15046	-0.855000	0.04125	0.528000	0.53228	GAT	PLD5	-	smart_PLipase_D/transphosphatidylase	ENSG00000180287		0.478	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	-	0	115	0	A	NM_152666		242263986	-1	tier1	-	no_errors	ENST00000536534	ensembl	human	known	74_37	missense	7.83	106	9	SNP	0.965	T	T	242263986	A	T	242263986	3	4	89	1	0	0	0	0	1	0	0	0	12088	214	8	5	280	5	PLD5	1	242263986	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	1805825	242263986	6986635	36	25402											
TPO	7173	genome.wustl.edu	37	chr2	1480921	1480921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctaccgctcttcggccGcctgcggcaccggggaccaa	5	7	11	18	5	2	0	0	0	2	0	3	1	2	1	6	4	2	2	6	4	2	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:1480921G>T	ENST00000345913.4	+	8	974	c.883G>T	c.(883-885)Gcc>Tcc	p.A295S	TPO_ENST00000346956.3_Missense_Mutation_p.A295S|TPO_ENST00000329066.4_Missense_Mutation_p.A295S|TPO_ENST00000382201.3_Missense_Mutation_p.A295S|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.A295S|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	295					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCTTCGGCCGCCTGCGGCAC	0.706																																																	0													12	14	13					2																	1480921		2192	4275	6467	SO:0001583	missense	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.883G>T	2.37:g.1480921G>T	ENSP00000318820:p.Ala295Ser		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.A295S	ENST00000345913.4	37	c.883	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185320	0.38609	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	4.99	4.11	0.48088	.	0.223965	0.45606	D	0.000357	T	0.76807	0.4039	M	0.65677	2.01	0.80722	D	1	D;D;D	0.59357	0.985;0.961;0.968	P;P;P	0.61477	0.882;0.822;0.889	T	0.76814	-0.2820	10	0.42905	T	0.14	-20.3944	13.6977	0.62589	0.0756:0.0:0.9244:0.0	.	295;295;295	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	S	295;295;295;295;295;224	ENSP00000337263:A295S;ENSP00000318820:A295S;ENSP00000263886:A295S;ENSP00000329869:A295S;ENSP00000371636:A295S;ENSP00000405788:A224S	ENSP00000329869:A295S	A	+	1	0	TPO	1459928	0.326000	0.24669	0.607000	0.28956	0.013000	0.08279	3.117000	0.50407	1.089000	0.41292	0.460000	0.39030	GCC	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.706	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2		0	85	0	G	NM_000547		1480921	1			no_errors	ENST00000329066	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.969	T	T	1480921	G	T	1480921	3	4	89	1	0	0	0	0	1	0	0	0	16458	1087	38	2	909	2	TPO	2	1480921	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		1480921	241718452	37	25403											
KIDINS220	57498	genome.wustl.edu	37	chr2	8890375	8890375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgggggctggctgtacCctgatggcgccctaggagga	6	7	18	10	2	0	1	0	1	0	0	0	4	0	4	2	7	1	3	2	7	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:8890375C>T	ENST00000256707.3	-	24	3462	c.3281G>A	c.(3280-3282)gGg>gAg	p.G1094E	KIDINS220_ENST00000473731.1_Missense_Mutation_p.G1094E|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G1094E|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G1052E	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1094					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGGCTGTACCCTGATGGCGC	0.592																																																	0													69	73	72					2																	8890375		1997	4165	6162	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3281G>A	2.37:g.8890375C>T	ENSP00000256707:p.Gly1094Glu		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1094E	ENST00000256707.3	37	c.3281	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	5.846	0.340354	0.11069	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.66280	1.01;-0.2;-0.16;-0.03;-0.16;-0.06	5.46	0.133	0.14766	.	0.784475	0.11961	N	0.512775	T	0.41119	0.1145	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.31485	0.181;0.004;0.325;0.12;0.04	B;B;B;B;B	0.37650	0.092;0.004;0.13;0.255;0.13	T	0.31641	-0.9936	10	0.02654	T	1	.	10.064	0.42292	0.237:0.4056:0.3573:0.0	.	1095;1095;778;1052;1094	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	E	841;778;1094;1094;1052;1094;1095;103	ENSP00000420364:G841E;ENSP00000256707:G1094E;ENSP00000411849:G1094E;ENSP00000414923:G1052E;ENSP00000418974:G1094E;ENSP00000419964:G1095E	ENSP00000256707:G1094E	G	-	2	0	KIDINS220	8807826	0.004000	0.15560	0.055000	0.19348	0.092000	0.18411	1.365000	0.34182	0.073000	0.16731	-2.558000	0.00175	GGG	KIDINS220	-	NULL	ENSG00000134313		0.592	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0	65	0	C	NM_020738		8890375	-1			no_errors	ENST00000256707	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.004	T	T	8890375	C	T	8890375	3	4	89	1	0	0	0	0	1	0	0	0	8298	623	22	3	2062	3	KIDINS220	2	8890375	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	7409454	8890375	234308998	38	25404											
YWHAQ	10971	genome.wustl.edu	37	chr2	9770479	9770479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgctcctcgttggacagctCggcgccctgctcggtcactg	3	9	13	16	5	1	0	1	0	0	0	5	1	2	1	2	3	2	4	2	3	0	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:9770479C>T	ENST00000381844.4	-	1	266	c.103G>A	c.(103-105)Gag>Aag	p.E35K	YWHAQ_ENST00000238081.3_Missense_Mutation_p.E35K			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	35					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		TTGGACAGCTCGGCGCCCTGC	0.642																																																	0													43	42	42					2																	9770479		2203	4300	6503	SO:0001583	missense	0			AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"protein tau"	609009	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.103G>A	2.37:g.9770479C>T	ENSP00000371267:p.Glu35Lys		D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E35K	ENST00000381844.4	37	c.103	CCDS1666.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980998	0.74474	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000446619	T;T;T	0.46819	0.86;0.86;0.86	5.2	4.33	0.51752	14-3-3 domain (4);	0.076618	0.50627	N	0.000119	T	0.45597	0.1350	L	0.58925	1.835	0.50813	D	0.999895	B	0.24426	0.103	B	0.20955	0.032	T	0.46775	-0.9167	10	0.87932	D	0	.	13.6769	0.62460	0.0:0.9252:0.0:0.0748	.	35	P27348	1433T_HUMAN	K	35	ENSP00000238081:E35K;ENSP00000371267:E35K;ENSP00000398990:E35K	ENSP00000238081:E35K	E	-	1	0	YWHAQ	9687930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.644000	0.83416	1.185000	0.42971	0.491000	0.48974	GAG	YWHAQ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000134308		0.642	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YWHAQ	HGNC	protein_coding	OTTHUMT00000039014.4	-	0	40	0	C	NM_006826		9770479	-1	tier1	-	no_errors	ENST00000238081	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	T	T	9770479	C	T	9770479	3	4	89	1	0	0	0	0	1	0	0	0	17554	893	31	1	654	1	YWHAQ	2	9770479	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	880104	9770479	233428894	39	25405											
C2orf71	388939	genome.wustl.edu	37	chr2	29297065	29297065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgctttgggctttttcaaGaactgaatgccactctttgc	8	16	8	9	0	2	2	1	1	1	1	2	2	2	2	1	1	4	2	1	1	3	5	rs267599334		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:29297065G>A	ENST00000331664.5	-	1	62	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	21					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCTTTTTCAAGAACTGAATGC	0.488																																																	0													93	87	89					2																	29297065		1983	4172	6155	SO:0001819	synonymous_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.63C>T	2.37:g.29297065G>A				Silent	SNP	NULL	p.F21	ENST00000331664.5	37	c.63	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.488	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	-	0	87	0	G	NM_001029883		29297065	-1	tier1	-	no_errors	ENST00000331664	ensembl	human	known	74_37	silent	8.75	73	7	SNP	0.990	A	A	29297065	G	A	29297065	2	1	89	1	0	0	0	0	0	0	0	1	2198	933	33	3		3	C2orf71	2	29297065	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	19526586	29297065	213902308	40	25406											
NLRC4	58484	genome.wustl.edu	37	chr2	32475208	32475208	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttgaaagaaagcttcAaattcttggctcagggctga	12	12	9	8	0	3	3	2	2	1	1	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:32475208A>T	ENST00000404025.2	-	5	2213	c.1725T>A	c.(1723-1725)ttT>ttA	p.F575L	NLRC4_ENST00000402280.1_Missense_Mutation_p.F575L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.F575L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	575					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGAAAGCTTCAAATTCTTGGC	0.383																																																	0													99	96	97					2																	32475208		2203	4300	6503	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1725T>A	2.37:g.32475208A>T	ENSP00000385090:p.Phe575Leu		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.F575L	ENST00000404025.2	37	c.1725	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	A	6.521	0.464347	0.12402	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.48836	0.8;0.8;0.8	3.0	0.645	0.17782	.	0.000000	0.49916	D	0.000129	T	0.29914	0.0748	L	0.29908	0.895	0.32240	N	0.572908	P	0.51057	0.941	B	0.42916	0.402	T	0.39354	-0.9618	9	0.23302	T	0.38	.	6.7097	0.23270	0.7777:0.0:0.2223:0.0	.	575	Q9NPP4	NLRC4_HUMAN	L	575	ENSP00000354159:F575L;ENSP00000385428:F575L;ENSP00000385090:F575L	ENSP00000354159:F575L	F	-	3	2	NLRC4	32328712	1.000000	0.71417	0.839000	0.33178	0.002000	0.02628	1.690000	0.37711	0.140000	0.18849	-0.451000	0.05528	TTT	NLRC4	-	NULL	ENSG00000091106		0.383	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	-	0	69	0	A	NM_021209		32475208	-1	tier1	-	no_errors	ENST00000360906	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.996	T	T	32475208	A	T	32475208	3	4	89	1	0	0	0	0	1	0	0	0	10508	127	5	5	1373	5	NLRC4	2	32475208	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	3178143	32475208	210724165	41	25407											
SLC3A1	6519	genome.wustl.edu	37	chr2	44547672	44547672	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggactcatctttgaacacaAcacgaagaatctccttcatc	13	10	6	12	1	4	2	2	1	2	1	6	4	4	3	1	1	2	0	1	1	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:44547672A>T	ENST00000260649.6	+	10	2028	c.1952A>T	c.(1951-1953)aAc>aTc	p.N651I	SLC3A1_ENST00000409380.1_Missense_Mutation_p.N373I|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.N282I|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409936.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	651					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTGAACACAACACGAAGAAT	0.418																																																	0													104	89	94					2																	44547672		2203	4300	6503	SO:0001583	missense	0				CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"Solute carriers"	11025	protein-coding gene	gene with protein product		104614	"solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1952A>T	2.37:g.44547672A>T	ENSP00000260649:p.Asn651Ile		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	p.N651I	ENST00000260649.6	37	c.1952	CCDS1819.1	2	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663108	0.67700	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.99105	-5.43;-4.86;-4.52	5.99	0.419	0.16438	.	0.636516	0.17209	N	0.182836	D	0.95802	0.8634	L	0.33485	1.01	0.09310	N	1	P	0.39903	0.694	B	0.36134	0.218	D	0.92236	0.5796	10	0.46703	T	0.11	-2.2702	6.9945	0.24774	0.5478:0.1428:0.3094:0.0	.	651	Q07837	SLC31_HUMAN	I	651;587;373;282	ENSP00000260649:N651I;ENSP00000386709:N373I;ENSP00000386677:N282I	ENSP00000260649:N651I	N	+	2	0	SLC3A1	44401176	0.020000	0.18652	0.054000	0.19295	0.868000	0.49771	0.316000	0.19469	0.131000	0.18576	0.533000	0.62120	AAC	SLC3A1	-	NULL	ENSG00000138079		0.418	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC3A1	HGNC	protein_coding	OTTHUMT00000250676.1	-	0	63	0	A	NM_000341		44547672	1	tier1	-	no_errors	ENST00000260649	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.012	T	T	44547672	A	T	44547672	3	4	89	1	0	0	0	0	1	0	0	0	14671	43	2	5	1990	5	SLC3A1	2	44547672	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	12072464	44547672	198651701	42	25408											
VPS54	51542	genome.wustl.edu	37	chr2	64211108	64211108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttccttgaggcactGgtgaagaactgtggcttgaa	8	12	13	8	0	0	4	0	3	0	1	1	4	1	4	1	3	3	4	1	3	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:64211108G>A	ENST00000272322.4	-	2	180	c.26C>T	c.(25-27)cCa>cTa	p.P9L	VPS54_ENST00000409558.4_Missense_Mutation_p.P9L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	9					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTGAGGCACTGGTGAAGAACT	0.408																																																	0													129	128	128					2																	64211108		2203	4300	6503	SO:0001583	missense	0			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 164"	614633	"vacuolar protein sorting 54 (yeast)"			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.26C>T	2.37:g.64211108G>A	ENSP00000272322:p.Pro9Leu		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.P9L	ENST00000272322.4	37	c.26	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053652	0.55218	.	.	ENSG00000143952	ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T	0.32515	1.45;1.46	5.76	5.76	0.90799	.	0.097256	0.64402	D	0.000001	T	0.20981	0.0505	N	0.16478	0.41	0.80722	D	1	B;B	0.13594	0.005;0.008	B;B	0.13407	0.004;0.009	T	0.03202	-1.1061	10	0.44086	T	0.13	.	13.1933	0.59723	0.0725:0.0:0.9275:0.0	.	9;9	Q9P1Q0;Q9P1Q0-4	VPS54_HUMAN;.	L	9	ENSP00000272322:P9L;ENSP00000386980:P9L	ENSP00000272322:P9L	P	-	2	0	VPS54	64064612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.298000	0.72763	2.722000	0.93159	0.650000	0.86243	CCA	VPS54	-	NULL	ENSG00000143952		0.408	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	-	0	35	0	G	NM_016516		64211108	-1	tier1	-	no_errors	ENST00000272322	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	A	A	64211108	G	A	64211108	3	1	89	1	0	0	0	0	1	0	0	0	17265	1348	47	3	2995	3	VPS54	2	64211108	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	19663436	64211108	178988265	43	25409											
ADD2	119	genome.wustl.edu	37	chr2	70900406	70900406	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtggagggcaacgctGaagaactcgcacacggccgg	11	4	15	11	4	0	3	0	1	0	2	1	4	0	4	1	4	2	3	1	4	3	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:70900406G>T	ENST00000264436.4	-	15	2186				ADD2_ENST00000407644.2_Intron|ADD2_ENST00000355733.3_Missense_Mutation_p.F598L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGCAACGCTGAAGAACTCGC	0.542																																																	0													86	80	82					2																	70900406		2203	4300	6503	SO:0001627	intron_variant	0			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1742-268C>A	2.37:g.70900406G>T			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.F598L	ENST00000264436.4	37	c.1794	CCDS1906.1	2	.	.	.	.	.	.	.	.	.	.	G	3.318	-0.139358	0.06669	.	.	ENSG00000075340	ENST00000355733	T	0.06371	3.31	3.21	-2.22	0.06952	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44937	-0.9295	8	0.26408	T	0.33	.	3.5986	0.08016	0.4438:0.0:0.381:0.1752	.	598	P35612-3	.	L	598	ENSP00000347972:F598L	ENSP00000347972:F598L	F	-	3	2	ADD2	70753914	0.007000	0.16637	0.000000	0.03702	0.011000	0.07611	0.156000	0.16382	-0.563000	0.06078	0.460000	0.39030	TTC	ADD2	-	NULL	ENSG00000075340		0.542	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD2	HGNC	protein_coding	OTTHUMT00000251918.4	-	0	61	0	G	NM_001617		70900406	-1	tier1	-	no_errors	ENST00000355733	ensembl	human	putative	74_37	missense	16.07	47	9	SNP	0.000	T	T	70900406	G	T	70900406	1	4	89	0	1	0	0	0	0	0	0	0	305	1281	45	3		3	ADD2	2	70900406	Intron	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	6689298	70900406	172298967	44	25410											
LOXL3	84695	genome.wustl.edu	37	chr2	74779641	74779641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccagccggaaccgaagccCctggctcccggccttcttct	6	7	10	18	3	2	0	0	0	2	0	3	2	3	1	7	3	4	1	7	3	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:74779641C>T	ENST00000264094.3	-	2	192	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	DOK1_ENST00000340004.6_5'Flank|LOXL3_ENST00000484369.1_5'UTR|DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000409249.1_Missense_Mutation_p.G41R|LOXL3_ENST00000409986.1_Missense_Mutation_p.G41R|LOXL3_ENST00000393937.2_Missense_Mutation_p.G41R|LOXL3_ENST00000409549.1_Missense_Mutation_p.G41R|DOK1_ENST00000409429.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	41					epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AACCGAAGCCCCTGGCTCCCG	0.662																																																	0													19	21	20					2																	74779641		2185	4282	6467	SO:0001583	missense	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.121G>A	2.37:g.74779641C>T	ENSP00000264094:p.Gly41Arg		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.G41R	ENST00000264094.3	37	c.121	CCDS1953.1	2	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403039	0.42613	.	.	ENSG00000115318	ENST00000264094;ENST00000409249;ENST00000393937;ENST00000409549;ENST00000409986;ENST00000413469	T;T;T;T;T;T	0.01295	5.17;5.04;5.13;5.21;5.12;5.04	3.94	3.94	0.45596	Speract/scavenger receptor-related (1);	0.600804	0.17454	N	0.173668	T	0.02230	0.0069	N	0.19112	0.55	0.80722	D	1	D;B;B;B	0.67145	0.996;0.0;0.086;0.077	P;B;B;B	0.56612	0.802;0.001;0.076;0.064	T	0.74054	-0.3788	10	0.17369	T	0.5	.	11.788	0.52053	0.0:1.0:0.0:0.0	.	41;41;41;41	B9A025;E7END4;Q6IPL7;P58215	.;.;.;LOXL3_HUMAN	R	41	ENSP00000264094:G41R;ENSP00000387103:G41R;ENSP00000377512:G41R;ENSP00000386696:G41R;ENSP00000386545:G41R;ENSP00000398260:G41R	ENSP00000264094:G41R	G	-	1	0	LOXL3	74633149	0.998000	0.40836	1.000000	0.80357	0.952000	0.60782	3.496000	0.53288	2.501000	0.84356	0.555000	0.69702	GGG	LOXL3	-	superfamily_Srcr_rcpt-rel	ENSG00000115318		0.662	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	-	0	64	0	C	NM_032603		74779641	-1	tier1	-	no_errors	ENST00000264094	ensembl	human	known	74_37	missense	20.29	55	14	SNP	1.000	T	T	74779641	C	T	74779641	3	4	89	1	0	0	0	0	1	0	0	0	8936	623	22	3	2192	3	LOXL3	2	74779641	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3879235	74779641	168419732	45	25411											
DNAH6	1768	genome.wustl.edu	37	chr2	84934741	84934741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgggaagaaagcatacaGaagtttgaggaagaaatatc	18	7	12	4	1	0	4	0	1	0	3	1	7	0	6	0	2	2	2	0	2	7	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:84934741G>T	ENST00000237449.6	+	53	8957	c.8949G>T	c.(8947-8949)caG>caT	p.Q2983H	DNAH6_ENST00000389394.3_Missense_Mutation_p.Q2983H			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	2983					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAAGCATACAGAAGTTTGAGG	0.478																																																	0													188	173	177					2																	84934741		692	1591	2283	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"Axonemal dyneins"	2951	protein-coding gene	gene with protein product		603336	"dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1"	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.8949G>T	2.37:g.84934741G>T	ENSP00000237449:p.Gln2983His		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Q2983H	ENST00000237449.6	37	c.8949	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236901	0.39498	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.75260	-0.92;-0.92	5.58	1.64	0.23874	Dynein heavy chain, coiled coil stalk (1);	1.780160	0.03041	N	0.153302	T	0.62171	0.2406	N	0.21545	0.675	0.43688	D	0.996138	B	0.19935	0.04	B	0.25759	0.063	T	0.51317	-0.8721	10	0.39692	T	0.17	.	4.1255	0.10125	0.0727:0.2571:0.4055:0.2646	.	2983	Q9C0G6	DYH6_HUMAN	H	2983	ENSP00000374045:Q2983H;ENSP00000237449:Q2983H	ENSP00000237449:Q2983H	Q	+	3	2	DNAH6	84788252	0.962000	0.33011	0.463000	0.27130	0.636000	0.38137	0.625000	0.24477	0.270000	0.21984	-0.189000	0.12847	CAG	DNAH6	-	superfamily_P-loop_NTPase	ENSG00000115423		0.478	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	-	0	97	0	G	NM_001370		84934741	1	tier1	-	no_errors	ENST00000237449	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.388	T	T	84934741	G	T	84934741	3	4	89	1	0	0	0	0	1	0	0	0	4619	933	33	3	9159	3	DNAH6	2	84934741	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	10155100	84934741	158264632	46	25412											
USP39	10713	genome.wustl.edu	37	chr2	85843346	85843346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccggtctaagcgggagtctCgcggttccactcgcgggaag	6	7	16	12	6	2	0	0	0	2	0	5	2	3	2	2	4	1	1	2	4	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:85843346C>G	ENST00000323701.6	+	1	38	c.28C>G	c.(28-30)Cgc>Ggc	p.R10G	USP39_ENST00000409470.1_Missense_Mutation_p.R10G|USP39_ENST00000459775.1_Intron|USP39_ENST00000409766.3_Missense_Mutation_p.R10G|USP39_ENST00000450066.2_Intron|USP39_ENST00000409025.1_Missense_Mutation_p.R10G	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	10	Arg-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCGGGAGTCTCGCGGTTCCAC	0.701																																																	0													7	8	8					2																	85843346		2167	4247	6414	SO:0001583	missense	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.28C>G	2.37:g.85843346C>G	ENSP00000312981:p.Arg10Gly		A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R10G	ENST00000323701.6	37	c.28	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927005	0.73327	.	.	ENSG00000168883	ENST00000409268;ENST00000409025;ENST00000409470;ENST00000323701;ENST00000409766	T;T;T;T	0.20200	2.11;2.4;2.4;2.09	5.27	5.27	0.74061	.	0.135356	0.34314	N	0.004070	T	0.13200	0.0320	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.30281	0.275;0.013;0.013;0.004	B;B;B;B	0.24974	0.057;0.011;0.011;0.011	T	0.07809	-1.0753	10	0.44086	T	0.13	-10.3015	14.2543	0.66040	0.0:1.0:0.0:0.0	.	10;10;10;10	G5E9H0;B3KM40;B9A018;Q53GS9	.;.;.;SNUT2_HUMAN	G	10	ENSP00000386572:R10G;ENSP00000386864:R10G;ENSP00000312981:R10G;ENSP00000386803:R10G	ENSP00000312981:R10G	R	+	1	0	USP39	85696857	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.601000	0.54059	2.746000	0.94184	0.561000	0.74099	CGC	USP39	-	NULL	ENSG00000168883		0.701	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	-	0	34	0	C	NM_006590		85843346	1	tier1	-	no_errors	ENST00000409470	ensembl	human	known	74_37	missense	10.91	49	6	SNP	0.999	G	G	85843346	C	G	85843346	3	3	89	1	0	0	0	0	1	0	0	0	17119	884	31	5	30	5	USP39	2	85843346	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	908605	85843346	157356027	47	25413											
UNC50	25972	genome.wustl.edu	37	chr2	99226460	99226460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggaccagtgggccagaGatgaccctgctttcttggtc	8	9	13	11	1	1	2	0	1	1	1	2	5	1	3	3	3	1	1	3	3	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:99226460G>T	ENST00000357765.2	+	2	390	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	COA5_ENST00000328709.3_5'Flank|UNC50_ENST00000409347.1_Missense_Mutation_p.D97Y|UNC50_ENST00000409975.1_Missense_Mutation_p.D97Y|COA5_ENST00000483527.1_5'Flank|COA5_ENST00000409997.1_5'Flank	NM_014044.5	NP_054763.2	Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	80					cell surface receptor signaling pathway (GO:0007166)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)	RNA binding (GO:0003723)			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						GTGGGCCAGAGATGACCCTGC	0.428																																																	0													49	53	51					2																	99226460		2203	4300	6503	SO:0001583	missense	0				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446			16046	protein-coding gene	gene with protein product						10980252	Standard	NM_014044		Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000357765.2:c.238G>T	2.37:g.99226460G>T	ENSP00000350409:p.Asp80Tyr		D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	Missense_Mutation	SNP	pfam_UNC-50	p.D97Y	ENST00000357765.2	37	c.289	CCDS2035.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739324	0.89573	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86393	0.5922	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89639	0.3861	9	0.87932	D	0	-6.7177	18.0646	0.89387	0.0:0.0:1.0:0.0	.	80	Q53HI1	UNC50_HUMAN	Y	80;97;97	.	ENSP00000350409:D80Y	D	+	1	0	UNC50	98592892	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.284000	0.95882	2.505000	0.84491	0.591000	0.81541	GAT	UNC50	-	pfam_UNC-50	ENSG00000115446		0.428	UNC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC50	HGNC	protein_coding	OTTHUMT00000252987.1	-	0	47	0	G	NM_014044		99226460	1	tier1	-	no_errors	ENST00000409347	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	99226460	G	T	99226460	3	4	89	1	0	0	0	0	1	0	0	0	17039	942	33	3	240	3	UNC50	2	99226460	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	13383114	99226460	143972913	48	25414											
IL1F8	27177	genome.wustl.edu	37	chr2	113788674	113788674	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctattaaagaatttccactCaggacccacaccatctgtcg	12	10	6	13	1	2	1	1	0	1	1	4	2	3	2	3	1	0	1	3	1	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:113788674C>G	ENST00000259213.4	-	3	179	c.72G>C	c.(70-72)ctG>ctC	p.L24L	IL36B_ENST00000327407.2_Silent_p.L24L	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	24					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						AATTTCCACTCAGGACCCACA	0.473																																																	0													119	107	111					2																	113788674		2203	4300	6503	SO:0001819	synonymous_variant	0			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"Interleukins and interleukin receptors"	15564	protein-coding gene	gene with protein product		605508	"interleukin 1 family, member 8 (eta)"	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.72G>C	2.37:g.113788674C>G			Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Silent	SNP	superfamily_Cytokine_IL1-like	p.L24	ENST00000259213.4	37	c.72	CCDS2109.1	2																																																																																			IL36B	-	superfamily_Cytokine_IL1-like	ENSG00000136696		0.473	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL36B	HGNC	protein_coding	OTTHUMT00000254110.1	-	0	115	0	C	NM_014438		113788674	-1	tier1	-	no_errors	ENST00000259213	ensembl	human	known	74_37	silent	7.69	84	7	SNP	0.009	G	G	113788674	C	G	113788674	2	3	89	1	0	0	0	0	0	0	0	1	7683	813	29	5		5	IL1F8	2	113788674	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	14562214	113788674	129410699	49	25415											
CCDC93	54520	genome.wustl.edu	37	chr2	118732778	118732778	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacacctcttcagctgctcGaagctcatcttcctcgtggg	7	11	8	15	2	4	0	2	0	2	0	7	1	5	0	2	1	3	3	2	1	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:118732778G>A	ENST00000376300.2	-	9	873	c.736C>T	c.(736-738)Cga>Tga	p.R246*	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Nonsense_Mutation_p.R245*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	246										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCAGCTGCTCGAAGCTCATCT	0.502																																																	0													270	250	257					2																	118732778		2203	4300	6503	SO:0001587	stop_gained	0			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.736C>T	2.37:g.118732778G>A	ENSP00000365477:p.Arg246*		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Nonsense_Mutation	SNP	pfam_DUF2037	p.R246*	ENST00000376300.2	37	c.736	CCDS2121.2	2	.	.	.	.	.	.	.	.	.	.	G	38	6.997324	0.97990	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	.	.	.	4.99	4.99	0.66335	.	0.399829	0.27951	N	0.017199	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-6.0E-4	16.9832	0.86334	0.0:0.0:1.0:0.0	.	.	.	.	X	246;245	.	ENSP00000324135:R245X	R	-	1	2	CCDC93	118449248	1.000000	0.71417	0.821000	0.32701	0.918000	0.54935	6.091000	0.71406	2.752000	0.94435	0.557000	0.71058	CGA	CCDC93	-	NULL	ENSG00000125633		0.502	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC93	HGNC	protein_coding	OTTHUMT00000129615.1	-	0	46	0	G	NM_019044		118732778	-1	tier1	-	no_errors	ENST00000376300	ensembl	human	known	74_37	nonsense	10.87	41	5	SNP	0.977	A	A	118732778	G	A	118732778	4	1	89	1	0	0	0	0	0	1	0	0	2879	1066	37	1	1223	1	CCDC93	2	118732778	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4944104	118732778	124466595	50	25416											
SAP130	79595	genome.wustl.edu	37	chr2	128757988	128757988	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaggacgctgaatactgaTtgctgcagatggaggatgct	10	9	15	7	1	0	3	0	2	0	1	0	6	0	6	0	4	4	5	0	4	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:128757988T>A	ENST00000259235.3	-	8	1117	c.988A>T	c.(988-990)Atc>Ttc	p.I330F	SAP130_ENST00000357702.5_Missense_Mutation_p.I330F|SAP130_ENST00000259234.6_Missense_Mutation_p.I304F	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	330					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGAATACTGATTGCTGCAGAT	0.463																																																	0													209	183	192					2																	128757988		2203	4300	6503	SO:0001583	missense	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.988A>T	2.37:g.128757988T>A	ENSP00000259235:p.Ile330Phe		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.I330F	ENST00000259235.3	37	c.988	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	T	17.35	3.367184	0.61513	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.38	4.23	0.50019	.	0.103999	0.64402	D	0.000004	T	0.54127	0.1839	N	0.24115	0.695	0.52501	D	0.999954	D;P;P	0.67145	0.996;0.879;0.879	P;P;P	0.62184	0.899;0.572;0.448	T	0.56751	-0.7927	9	0.62326	D	0.03	-13.6753	11.154	0.48476	0.0:0.0722:0.0:0.9278	.	330;303;330	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	F	330;330;304	.	ENSP00000259234:I304F	I	-	1	0	SAP130	128474458	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	3.471000	0.53107	0.991000	0.38814	0.528000	0.53228	ATC	SAP130	-	NULL	ENSG00000136715		0.463	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	-	0	80	0	T	NM_024545		128757988	-1	tier1	-	no_errors	ENST00000357702	ensembl	human	known	74_37	missense	10.42	86	10	SNP	0.992	A	A	128757988	T	A	128757988	3	1	89	1	0	0	0	0	1	0	0	0	13876	1493	52	5	2319	5	SAP130	2	128757988	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	10025210	128757988	114441385	51	25417											
ARL5A	26225	genome.wustl.edu	37	chr2	152668909	152668909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagagttcttctctagttaCagaaatcctctctctgtctg	9	16	6	10	0	5	2	0	0	5	2	8	2	6	2	1	0	1	2	1	0	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:152668909C>T	ENST00000295087.8	-	4	612	c.301G>A	c.(301-303)Gta>Ata	p.V101I	ARL5A_ENST00000428992.2_Missense_Mutation_p.V64I	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	101					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TCTCTAGTTACAGAAATCCTC	0.303																																																	0													82	77	79					2																	152668909		2202	4296	6498	SO:0001583	missense	0			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	696	protein-coding gene	gene with protein product		608960	"ADP-ribosylation factor-like 5"	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.301G>A	2.37:g.152668909C>T	ENSP00000295087:p.Val101Ile		Q580I5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V101I	ENST00000295087.8	37	c.301	CCDS2195.1	2	.	.	.	.	.	.	.	.	.	.	C	12.02	1.813661	0.32053	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	D;D	0.82344	-1.6;-1.6	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	N	0.05230	-0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66272	-0.5965	10	0.52906	T	0.07	-16.2384	18.3189	0.90231	0.0:1.0:0.0:0.0	.	101	Q9Y689	ARL5A_HUMAN	I	101;64;64	ENSP00000295087:V101I;ENSP00000415950:V64I	ENSP00000295087:V101I	V	-	1	0	ARL5A	152377155	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.862000	0.62976	2.327000	0.79052	0.460000	0.39030	GTA	ARL5A	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom	ENSG00000162980		0.303	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5A	HGNC	protein_coding	OTTHUMT00000254837.1		0	114	0	C			152668909	-1			no_errors	ENST00000295087	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	152668909	C	T	152668909	3	4	89	1	0	0	0	0	1	0	0	0	940	478	17	3	250	3	ARL5A	2	152668909	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	23910921	152668909	90530464	52	25418											
TANK	10010	genome.wustl.edu	37	chr2	162061209	162061209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaattatggctgtgttcctCtgcttgaagacagtgaaaca	12	12	9	8	0	1	3	0	2	1	1	2	3	2	3	1	1	2	3	1	1	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:162061209C>T	ENST00000392749.2	+	4	471	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	TANK_ENST00000457476.1_Silent_p.L78L|TANK_ENST00000402568.1_Silent_p.L137L|TANK_ENST00000406287.1_Silent_p.L136L|TANK_ENST00000259075.2_Silent_p.L78L|TANK_ENST00000403609.1_Silent_p.L78L|TANK_ENST00000405852.1_Silent_p.L78L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	78					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTGTGTTCCTCTGCTTGAAGA	0.353																																																	0													71	75	74					2																	162061209		2203	4300	6503	SO:0001819	synonymous_variant	0			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.232C>T	2.37:g.162061209C>T			D3DPB5|Q7Z4J6|Q92885	Silent	SNP	NULL	p.L78	ENST00000392749.2	37	c.232	CCDS2215.1	2																																																																																			TANK	-	NULL	ENSG00000136560		0.353	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	-	0	73	0	C	NM_133484		162061209	1	tier1	-	no_errors	ENST00000259075	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.131	T	T	162061209	C	T	162061209	2	4	89	1	0	0	0	0	0	0	0	1	15593	912	32	3		3	TANK	2	162061209	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	9392300	162061209	81138164	53	25419											
TTN	7273	genome.wustl.edu	37	chr2	179415774	179415774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcatttcttgcaattattCtgaactcatagcgatcccca	11	13	5	12	1	3	1	1	1	2	0	4	2	4	1	2	0	4	2	2	0	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:179415774C>G	ENST00000591111.1	-	286	86785	c.86561G>C	c.(86560-86562)aGa>aCa	p.R28854T	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R21430T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27927T|TTN_ENST00000342175.6_Missense_Mutation_p.R21622T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21555T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30495T|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28854	Fibronectin type-III 110. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAATTATTCTGAACTCATA	0.428																																																	0													80	76	77					2																	179415774		1889	4114	6003	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86561G>C	2.37:g.179415774C>G	ENSP00000465570:p.Arg28854Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R27927T	ENST00000591111.1	37	c.83780		2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713786	0.89112	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.9	5.9	0.94986	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81079	0.4748	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.83056	-0.0150	9	0.87932	D	0	.	20.2787	0.98501	0.0:1.0:0.0:0.0	.	21430;21555;21622;28854	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	27927;21430;21622;21555;21427	ENSP00000343764:R27927T;ENSP00000434586:R21430T;ENSP00000340554:R21622T;ENSP00000352154:R21555T	ENSP00000340554:R21622T	R	-	2	0	TTN	179124020	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	AGA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	72	0	C	NM_133378		179415774	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	10.77	58	7	SNP	1.000	G	G	179415774	C	G	179415774	3	3	89	1	0	0	0	0	1	0	0	0	16784	913	32	5	16603	5	TTN	2	179415774	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	17354565	179415774	63783599	54	25420											
TTN	7273	genome.wustl.edu	37	chr2	179547519	179547519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttggttcatactcctcaAattctttataatcatattct	10	19	3	9	0	5	0	3	0	2	0	6	0	6	0	1	1	1	2	1	1	5	9			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:179547519A>T	ENST00000591111.1	-	133	32272	c.32048T>A	c.(32047-32049)tTt>tAt	p.F10683Y	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F9756Y|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F11000Y|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTCCTCAAATTCTTTATA	0.368																																																	0													254	232	239					2																	179547519		1840	4082	5922	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32048T>A	2.37:g.179547519A>T	ENSP00000465570:p.Phe10683Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.F9756Y	ENST00000591111.1	37	c.29267		2	.	.	.	.	.	.	.	.	.	.	A	1.784	-0.481174	0.04383	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.68903	-0.36;-0.1	4.52	-9.04	0.00734	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.43100	0.1232	N	0.14661	0.345	0.24826	N	0.99256	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43458	-0.9390	9	0.87932	D	0	.	9.9834	0.41828	0.1412:0.0:0.1361:0.7227	.	10683;10419	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	Y	9756;614	ENSP00000343764:F9756Y;ENSP00000401501:F614Y	ENSP00000343764:F9756Y	F	-	2	0	TTN	179255764	0.121000	0.22262	0.482000	0.27366	0.778000	0.44026	-0.881000	0.04179	-1.752000	0.01325	-0.516000	0.04426	TTT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	64	0	A	NM_133378		179547519	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	17.02	78	16	SNP	0.293	T	T	179547519	A	T	179547519	3	4	89	1	0	0	0	0	1	0	0	0	16784	14	1	5	71442	5	TTN	2	179547519	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	131745	179547519	63651854	55	25421											
STAT4	6775	genome.wustl.edu	37	chr2	191896228	191896228	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataacctttgtcacccctttCtgttggtcttgaaactggaa	9	15	7	10	0	3	1	1	1	2	0	3	2	3	2	3	2	2	1	3	2	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:191896228C>G	ENST00000392320.2	-	22	2373	c.2059G>C	c.(2059-2061)Gaa>Caa	p.E687Q	STAT4_ENST00000358470.4_Missense_Mutation_p.E687Q|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	687					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCACCCCTTTCTGTTGGTCTT	0.318																																																	0													88	84	85					2																	191896228		2203	4300	6503	SO:0001583	missense	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2059G>C	2.37:g.191896228C>G	ENSP00000376134:p.Glu687Gln		Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.E687Q	ENST00000392320.2	37	c.2059	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	C	14.29	2.489883	0.44249	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.96587	-4.06;-4.06	5.13	5.13	0.70059	SH2 motif (1);	0.998944	0.08100	N	0.997999	D	0.94062	0.8097	L	0.43923	1.385	0.80722	D	1	P;P	0.38395	0.487;0.629	B;B	0.29440	0.102;0.102	D	0.88751	0.3250	10	0.36615	T	0.2	-41.9419	19.1356	0.93426	0.0:1.0:0.0:0.0	.	596;687	Q53S87;Q14765	.;STAT4_HUMAN	Q	687	ENSP00000351255:E687Q;ENSP00000376134:E687Q	ENSP00000351255:E687Q	E	-	1	0	STAT4	191604473	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	3.487000	0.53222	2.826000	0.97356	0.655000	0.94253	GAA	STAT4	-	NULL	ENSG00000138378		0.318	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	-	0	150	0	C	NM_003151		191896228	-1	tier1	-	no_errors	ENST00000358470	ensembl	human	known	74_37	missense	13.39	97	15	SNP	1.000	G	G	191896228	C	G	191896228	3	3	89	1	0	0	0	0	1	0	0	0	15314	922	32	5	199	5	STAT4	2	191896228	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	12348709	191896228	51303145	56	25422											
KCTD18	130535	genome.wustl.edu	37	chr2	201363707	201363707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcatatacaccaataattCtactctcacagcttgcacca	13	11	4	13	0	2	0	1	0	2	0	3	0	2	0	2	1	4	3	2	1	5	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:201363707C>G	ENST00000359878.3	-	4	983	c.473G>C	c.(472-474)aGa>aCa	p.R158T	KCTD18_ENST00000409157.1_Missense_Mutation_p.R158T|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	158					protein homooligomerization (GO:0051260)					endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCAATAATTCTACTCTCACA	0.398																																																	0													112	109	110					2																	201363707		2203	4300	6503	SO:0001583	missense	0			AK055884	CCDS2330.1	2q33.1	2013-06-20	2013-06-20		ENSG00000155729	ENSG00000155729			26446	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 18"				Standard	NM_152387		Approved	FLJ31322, 6530404F10Rik, FLJ37818	uc002uvs.3	Q6PI47	OTTHUMG00000132781	ENST00000359878.3:c.473G>C	2.37:g.201363707C>G	ENSP00000352941:p.Arg158Thr		Q53T21|Q6NW26|Q6PCD8|Q8N9B7|Q96N73	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.R158T	ENST00000359878.3	37	c.473	CCDS2330.1	2	.	.	.	.	.	.	.	.	.	.	C	15.16	2.751921	0.49362	.	.	ENSG00000155729	ENST00000359878;ENST00000409157	D;D	0.97404	-4.37;-4.37	5.42	4.55	0.56014	.	0.163819	0.43919	D	0.000505	D	0.94729	0.8299	L	0.27053	0.805	0.30113	N	0.806406	P;D	0.63880	0.59;0.993	B;P	0.53954	0.16;0.738	D	0.91444	0.5176	10	0.44086	T	0.13	-24.6542	6.2607	0.20899	0.0:0.7033:0.0:0.2967	.	158;158	Q6PI47-2;Q6PI47	.;KCD18_HUMAN	T	158	ENSP00000352941:R158T;ENSP00000386751:R158T	ENSP00000352941:R158T	R	-	2	0	KCTD18	201071952	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.290000	0.33319	1.524000	0.49035	0.563000	0.77884	AGA	KCTD18	-	NULL	ENSG00000155729		0.398	KCTD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD18	HGNC	protein_coding	OTTHUMT00000256188.1	-	0	80	0	C	NM_152387		201363707	-1	tier1	-	no_errors	ENST00000359878	ensembl	human	known	74_37	missense	10.19	97	11	SNP	1.000	G	G	201363707	C	G	201363707	3	3	89	1	0	0	0	0	1	0	0	0	8132	913	32	5	823	5	KCTD18	2	201363707	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	9467479	201363707	41835666	57	25423											
ALS2	57679	genome.wustl.edu	37	chr2	202622353	202622353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttcttcagtgacaaggCaccagcttcataagtagcag	13	10	8	10	0	3	1	2	1	1	0	3	1	3	1	1	1	3	4	1	1	4	5	rs376793598		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:202622353C>A	ENST00000264276.6	-	5	1615	c.1243G>T	c.(1243-1245)Gcc>Tcc	p.A415S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	415					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGTGACAAGGCACCAGCTTCA	0.512																																																	0													80	79	79					2																	202622353		1974	4171	6145	SO:0001583	missense	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"Rho guanine nucleotide exchange factors"	443	protein-coding gene	gene with protein product	"alsin"	606352	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1243G>T	2.37:g.202622353C>A	ENSP00000264276:p.Ala415Ser		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens	p.A415S	ENST00000264276.6	37	c.1243	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415397	0.83449	.	.	ENSG00000003393	ENST00000264276	T	0.59638	0.25	5.45	4.57	0.56435	.	0.142312	0.48767	D	0.000163	T	0.62429	0.2427	N	0.24115	0.695	0.80722	D	1	D;P;P	0.89917	1.0;0.825;0.533	D;B;B	0.83275	0.996;0.397;0.076	T	0.61013	-0.7148	10	0.30078	T	0.28	.	14.7993	0.69900	0.0:0.9301:0.0:0.0699	.	415;415;415	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	S	415	ENSP00000264276:A415S	ENSP00000264276:A415S	A	-	1	0	ALS2	202330598	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.414000	0.66405	1.432000	0.47375	0.563000	0.77884	GCC	ALS2	-	NULL	ENSG00000003393		0.512	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3		0	34	0	C	NM_020919		202622353	-1			no_errors	ENST00000264276	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	202622353	C	A	202622353	3	1	89	1	0	0	0	0	1	0	0	0	550	710	25	3	3850	3	ALS2	2	202622353	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1258646	202622353	40577020	58	25424											
PTH2R	5746	genome.wustl.edu	37	chr2	209307162	209307162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttccttggctgtggCtattctcatcattggttact	4	20	9	8	0	2	0	2	0	1	0	4	0	3	0	1	4	1	4	1	4	2	8			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:209307162C>A	ENST00000272847.2	+	5	698	c.485C>A	c.(484-486)gCt>gAt	p.A162D	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	162					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TTGGCTGTGGCTATTCTCATC	0.448																																																	0													370	310	330					2																	209307162		2203	4300	6503	SO:0001583	missense	0			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"GPCR / Class B : Parathyroid hormone receptors"	9609	protein-coding gene	gene with protein product		601469	"parathyroid hormone receptor 2"	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.485C>A	2.37:g.209307162C>A	ENSP00000272847:p.Ala162Asp		Q8N429	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.A162D	ENST00000272847.2	37	c.485	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561842	0.65538	.	.	ENSG00000144407	ENST00000272847	T	0.38560	1.13	5.13	4.22	0.49857	GPCR, family 2-like (1);	0.000000	0.45606	U	0.000346	T	0.73410	0.3583	H	0.95611	3.695	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.81446	-0.0929	10	0.87932	D	0	.	13.2318	0.59947	0.0:0.8388:0.1612:0.0	.	51;162	B4DFN8;P49190	.;PTH2R_HUMAN	D	162	ENSP00000272847:A162D	ENSP00000272847:A162D	A	+	2	0	PTH2R	209015407	1.000000	0.71417	0.999000	0.59377	0.468000	0.32798	5.369000	0.66138	1.112000	0.41740	0.655000	0.94253	GCT	PTH2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000144407		0.448	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2	-	0	62	0	C	NM_005048		209307162	1	tier1	-	no_errors	ENST00000272847	ensembl	human	known	74_37	missense	8.00	92	8	SNP	1.000	A	A	209307162	C	A	209307162	3	1	89	1	0	0	0	0	1	0	0	0	12803	797	28	3	503	3	PTH2R	2	209307162	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	6684809	209307162	33892211	59	25425											
MAP2	4133	genome.wustl.edu	37	chr2	210543349	210543349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaggctgtagcagtcCtgaaaggtgaacaagagaaa	14	7	13	7	0	0	4	0	3	0	1	1	5	1	4	1	2	3	4	1	2	5	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:210543349C>A	ENST00000360351.4	+	5	822	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	MAP2_ENST00000199940.6_Missense_Mutation_p.L106M|MAP2_ENST00000447185.1_Missense_Mutation_p.L106M|MAP2_ENST00000361559.4_Missense_Mutation_p.L106M|MAP2_ENST00000392194.1_Missense_Mutation_p.L106M	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	106					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGTAGCAGTCCTGAAAGGTGA	0.418																																					Pancreas(27;423 979 28787 29963)												0													115	109	111					2																	210543349		2203	4300	6503	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.316C>A	2.37:g.210543349C>A	ENSP00000353508:p.Leu106Met		Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.L106M	ENST00000360351.4	37	c.316	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.979785	0.74360	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T;T	0.62105	1.99;0.05;1.99;1.99;1.99;1.99;1.99;1.99	5.04	3.09	0.35607	.	0.000000	0.42172	D	0.000757	T	0.66386	0.2784	N	0.24115	0.695	0.40436	D	0.979996	D;P;D;P;D;D	0.89917	1.0;0.835;0.998;0.535;1.0;0.998	D;P;D;B;D;P	0.91635	0.999;0.718;0.99;0.309;0.999;0.896	T	0.69285	-0.5185	10	0.46703	T	0.11	-1.5695	14.6636	0.68891	0.0:0.7235:0.2764:0.0	.	106;106;107;106;106;106	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	M	106;106;106;106;106;106;106;32	ENSP00000199940:L106M;ENSP00000376031:L106M;ENSP00000353508:L106M;ENSP00000355290:L106M;ENSP00000409969:L106M;ENSP00000376032:L106M;ENSP00000392164:L106M;ENSP00000388824:L32M	ENSP00000199940:L106M	L	+	1	2	MAP2	210251594	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	3.029000	0.49712	1.070000	0.40811	0.643000	0.83706	CTG	MAP2	-	NULL	ENSG00000078018		0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	-	0	42	0	C	NM_001039538		210543349	1	tier1	-	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	11.11	48	6	SNP	1.000	A	A	210543349	C	A	210543349	3	1	89	1	0	0	0	0	1	0	0	0	9273	680	24	3	322	3	MAP2	2	210543349	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1236187	210543349	32656024	60	25426											
LANCL1	10314	genome.wustl.edu	37	chr2	211300158	211300158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgttctgcatccatgttctCcatactctaagcaccattca	9	14	5	13	0	4	0	1	0	3	0	6	0	5	0	3	0	3	4	3	0	2	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:211300158C>G	ENST00000443314.1	-	8	1418	c.1076G>C	c.(1075-1077)gGa>gCa	p.G359A	LANCL1_ENST00000233714.4_Missense_Mutation_p.G359A|LANCL1_ENST00000450366.2_Missense_Mutation_p.G359A|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000431941.2_Missense_Mutation_p.G359A|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000441020.3_Missense_Mutation_p.G359A			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	359					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCCATGTTCTCCATACTCTAA	0.373																																																	0													135	131	132					2																	211300158		2203	4300	6503	SO:0001583	missense	0			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"LanC (bacterial lantibiotic synthetase component C)-like 1"	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.1076G>C	2.37:g.211300158C>G	ENSP00000388713:p.Gly359Ala			Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.G359A	ENST00000443314.1	37	c.1076	CCDS2392.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.348538|5.348538	0.95807|0.95807	.|.	.|.	ENSG00000115365|ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941|ENST00000412863	T;T;T;T;T|.	0.39787|.	1.06;1.06;1.06;1.06;1.06|.	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73102|0.73102	0.3544|0.3544	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.66536|0.66536	-0.5899|-0.5899	10|5	0.33141|.	T|.	0.24|.	.|.	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	359|.	O43813|.	LANC1_HUMAN|.	A|C	359|117	ENSP00000388713:G359A;ENSP00000393323:G359A;ENSP00000393597:G359A;ENSP00000233714:G359A;ENSP00000397646:G359A|.	ENSP00000233714:G359A|.	G|W	-|-	2|3	0|0	LANCL1|LANCL1	211008403|211008403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.487000|7.487000	0.81328|0.81328	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|TGG	LANCL1	-	pfam_LANC-like	ENSG00000115365		0.373	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LANCL1	HGNC	protein_coding	OTTHUMT00000336817.1	-	0	126	0	C	NM_006055		211300158	-1	tier1	-	no_errors	ENST00000233714	ensembl	human	known	74_37	missense	8.82	93	9	SNP	1.000	G	G	211300158	C	G	211300158	3	3	89	1	0	0	0	0	1	0	0	0	8648	855	30	5	131	5	LANCL1	2	211300158	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	756809	211300158	31899215	61	25427											
COL4A4	1286	genome.wustl.edu	37	chr2	227872752	227872752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatcaggaatgaatacccGatccagaggctcctccaggt	12	7	9	13	1	1	2	1	1	0	1	4	4	4	3	5	3	1	1	5	3	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:227872752G>A	ENST00000396625.3	-	47	4998	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I	COL4A4_ENST00000329662.7_Silent_p.I1594I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1597	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATGAATACCCGATCCAGAGGC	0.612																																																	0													30	33	32					2																	227872752		1923	4131	6054	SO:0001819	synonymous_variant	0				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"Collagens"	2206	protein-coding gene	gene with protein product	"collagen of basement membrane, alpha-4 chain"	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4791C>T	2.37:g.227872752G>A			A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.I1597	ENST00000396625.3	37	c.4791	CCDS42828.1	2																																																																																			COL4A4	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000081052		0.612	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	HGNC	protein_coding	OTTHUMT00000313770.1	-	0	131	0	G	NM_000092		227872752	-1	tier1	-	no_errors	ENST00000396625	ensembl	human	known	74_37	silent	8.24	78	7	SNP	0.010	A	A	227872752	G	A	227872752	2	1	89	1	0	0	0	0	0	0	0	1	3700	1048	37	1		1	COL4A4	2	227872752	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	16572594	227872752	15326621	62	25428											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883348	228883348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtctccctccttctgatgGtctccttagaaaggacagca	8	12	8	13	0	3	2	0	1	3	1	6	3	4	3	3	2	1	1	3	2	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:228883348G>A	ENST00000392056.3	-	7	2268	c.2222C>T	c.(2221-2223)aCc>aTc	p.T741I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T741I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	741						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.T741N(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTTCTGATGGTCTCCTTAGA	0.473																																																	2	Substitution - Missense(2)	lung(2)											148	140	143					2																	228883348		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2222C>T	2.37:g.228883348G>A	ENSP00000375909:p.Thr741Ile		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.T741I	ENST00000392056.3	37	c.2222	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	4.946	0.175827	0.09443	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12147	2.71;2.71	5.53	1.39	0.22231	.	0.632105	0.15867	N	0.240709	T	0.10937	0.0267	L	0.54323	1.7	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.09377	0.002;0.004	T	0.26985	-1.0087	10	0.35671	T	0.21	.	2.7333	0.05233	0.2254:0.1251:0.5213:0.1282	.	741;741	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	I	741	ENSP00000375909:T741I;ENSP00000339886:T741I	ENSP00000339886:T741I	T	-	2	0	SPHKAP	228591592	0.002000	0.14202	0.065000	0.19835	0.553000	0.35397	0.960000	0.29253	0.356000	0.24157	0.655000	0.94253	ACC	SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0	38	0	G	NM_030623		228883348	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	A	A	228883348	G	A	228883348	3	1	89	1	0	0	0	0	1	0	0	0	15095	1261	44	3	2904	3	SPHKAP	2	228883348	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1010596	228883348	14316025	63	25429											
PID1	55022	genome.wustl.edu	37	chr2	229890767	229890767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagctcaatgactggcttttCtgtgcagcctgacaaaaact	11	11	9	10	0	2	2	1	2	1	0	2	3	2	2	1	1	4	3	1	1	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:229890767C>T	ENST00000354069.6	-	3	364	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.E30K|PID1_ENST00000392055.3_Missense_Mutation_p.E79K|PID1_ENST00000392054.3_Missense_Mutation_p.E110K			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	112	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		ACTGGCTTTTCTGTGCAGCCT	0.532																																																	0													76	73	74					2																	229890767		2203	4300	6503	SO:0001583	missense	0			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.334G>A	2.37:g.229890767C>T	ENSP00000283937:p.Glu112Lys		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.E112K	ENST00000354069.6	37	c.334		2	.	.	.	.	.	.	.	.	.	.	C	36	5.772611	0.96922	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.3	5.3	0.74995	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.76494	0.988;0.988;0.998;0.999	P;P;D;D	0.81914	0.908;0.908;0.994;0.995	T	0.71676	-0.4521	8	.	.	.	-28.3374	18.3095	0.90194	0.0:1.0:0.0:0.0	.	30;79;110;112	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	K	110;30;79;112;112	.	.	E	-	1	0	PID1	229599011	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.276000	0.78559	2.645000	0.89757	0.655000	0.94253	GAA	PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.532	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0	54	0	C	NM_017933		229890767	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	T	T	229890767	C	T	229890767	3	4	89	1	0	0	0	0	1	0	0	0	11921	922	32	3	422	3	PID1	2	229890767	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1007419	229890767	13308606	64	25430											
NGEF	25791	genome.wustl.edu	37	chr2	233785105	233785105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggggttactgagcaggcaGatctggggcagagtcttcct	7	10	16	8	0	2	3	0	1	2	2	3	3	3	3	1	5	2	4	1	5	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:233785105G>A	ENST00000264051.3	-	5	995	c.717C>T	c.(715-717)atC>atT	p.I239I	NGEF_ENST00000409079.1_Silent_p.I147I|NGEF_ENST00000373552.4_Silent_p.I147I	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	239	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGAGCAGGCAGATCTGGGGCA	0.617																																																	0													65	69	67					2																	233785105		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"Rho guanine nucleotide exchange factors"	7807	protein-coding gene	gene with protein product	"ephexin"	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.717C>T	2.37:g.233785105G>A			B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.I239	ENST00000264051.3	37	c.717	CCDS2500.1	2																																																																																			NGEF	-	NULL	ENSG00000066248		0.617	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	-	0	42	0	G	XM_044799		233785105	-1	tier1	-	no_errors	ENST00000264051	ensembl	human	known	74_37	silent	11.11	56	7	SNP	1.000	A	A	233785105	G	A	233785105	2	1	89	1	0	0	0	0	0	0	0	1	10433	932	33	3		3	NGEF	2	233785105	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3894338	233785105	9414268	65	25431											
DGKD	8527	genome.wustl.edu	37	chr2	234355361	234355361	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaccttgtgtgtgcaggtgGagcgtcatggcatacgaggc	7	10	16	8	2	1	1	1	1	0	0	1	3	1	2	1	4	3	2	1	4	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:234355361G>A	ENST00000264057.2	+	12	1350	c.1338G>A	c.(1336-1338)tgG>tgA	p.W446*	DGKD_ENST00000409813.3_Nonsense_Mutation_p.W402*	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	446	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGTGCAGGTGGAGCGTCATGG	0.617																																																	0													92	74	80					2																	234355361		2203	4300	6503	SO:0001587	stop_gained	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.1338G>A	2.37:g.234355361G>A	ENSP00000264057:p.Trp446*		Q14158|Q6PK55|Q8NG53	Nonsense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.W446*	ENST00000264057.2	37	c.1338	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.655721	0.96724	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9815	0.92757	0.0:0.0:1.0:0.0	.	.	.	.	X	446;402	.	ENSP00000264057:W446X	W	+	3	0	DGKD	234020100	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.203000	0.95033	2.806000	0.96561	0.655000	0.94253	TGG	DGKD	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000077044		0.617	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	-	0	26	0	G	NM_003648		234355361	1	tier1	-	no_errors	ENST00000264057	ensembl	human	known	74_37	nonsense	22.50	31	9	SNP	1.000	A	A	234355361	G	A	234355361	4	1	89	1	0	0	0	0	0	1	0	0	4481	1183	41	3	1408	3	DGKD	2	234355361	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	570256	234355361	8844012	66	25432											
ARL4C	10123	genome.wustl.edu	37	chr2	235405081	235405081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgttgctcagcttgatcttCtcggtgttgaagccgatggt	5	14	12	10	3	3	2	1	2	2	0	4	3	3	2	2	2	3	4	2	2	1	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:235405081C>T	ENST00000390645.2	-	1	616	c.150G>A	c.(148-150)gaG>gaA	p.E50E	ARL4C_ENST00000339728.3_Silent_p.E50E	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	50					endocytic recycling (GO:0032456)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		GCTTGATCTTCTCGGTGTTGA	0.617																																					Esophageal Squamous(157;1837 2534 13028 22831)												0													78	89	85					2																	235405081		2082	4221	6303	SO:0001819	synonymous_variant	0			AB016811	CCDS2512.1, CCDS63169.1	2q37.2	2014-05-09	2005-11-03	2005-11-03	ENSG00000188042	ENSG00000188042		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	698	protein-coding gene	gene with protein product		604787	"ADP-ribosylation factor-like 7"	ARL7			Standard	NM_005737		Approved	LAK	uc002vvn.3	P56559	OTTHUMG00000133291	ENST00000390645.2:c.150G>A	2.37:g.235405081C>T			Q4A519|Q53R10|Q9BVN1|Q9UQ34	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E50	ENST00000390645.2	37	c.150	CCDS2512.1	2																																																																																			ARL4C	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom	ENSG00000188042		0.617	ARL4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL4C	HGNC	protein_coding	OTTHUMT00000257073.1	-	0	76	0	C			235405081	-1	tier1	-	no_errors	ENST00000339728	ensembl	human	known	74_37	silent	14.55	46	8	SNP	1.000	T	T	235405081	C	T	235405081	2	4	89	1	0	0	0	0	0	0	0	1	938	912	32	3		3	ARL4C	2	235405081	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1049720	235405081	7794292	67	25433											
ASB1	51665	genome.wustl.edu	37	chr2	239353340	239353340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaaagtggaccctgaGgccttgcaggtctttaaaga	14	8	12	7	0	1	4	0	1	1	3	1	5	1	5	2	3	1	1	2	3	5	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr2:239353340G>T	ENST00000264607.4	+	4	1099	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ASB1_ENST00000409297.1_Missense_Mutation_p.E183D	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	284					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TGGACCCTGAGGCCTTGCAGG	0.488																																																	0													61	70	67					2																	239353340		2203	4300	6503	SO:0001583	missense	0			AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"Ankyrin repeat domain containing"	16011	protein-coding gene	gene with protein product		605758	"ankyrin repeat and SOCS box-containing 1"				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.852G>T	2.37:g.239353340G>T	ENSP00000264607:p.Glu284Asp		A6NL50|Q4ZG29|Q9ULS4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.E284D	ENST00000264607.4	37	c.852	CCDS33416.1	2	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586274	0.66105	.	.	ENSG00000065802	ENST00000264607;ENST00000409297	T;T	0.60424	0.19;1.78	5.77	2.61	0.31194	Ankyrin repeat-containing domain (1);	0.222920	0.46442	N	0.000293	T	0.47655	0.1457	M	0.72118	2.19	0.45979	D	0.998793	B	0.06786	0.001	B	0.04013	0.001	T	0.41251	-0.9519	9	.	.	.	.	2.1098	0.03700	0.2264:0.1471:0.4762:0.1503	.	284	Q9Y576	ASB1_HUMAN	D	284;183	ENSP00000264607:E284D;ENSP00000387025:E183D	.	E	+	3	2	ASB1	239018079	1.000000	0.71417	0.954000	0.39281	0.972000	0.66771	1.599000	0.36751	0.784000	0.33661	-0.304000	0.09214	GAG	ASB1	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000065802		0.488	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB1	HGNC	protein_coding	OTTHUMT00000328294.1	-	0	109	0	G	NM_001040445		239353340	1	tier1	-	no_errors	ENST00000264607	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.999	T	T	239353340	G	T	239353340	3	4	89	1	0	0	0	0	1	0	0	0	1014	991	35	3	866	3	ASB1	2	239353340	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3948259	239353340	3846033	68	25434											
CMTM8	152189	genome.wustl.edu	37	chr3	32398870	32398870	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaccactttacaggttctGgggctgctggtatggacgct	6	13	12	10	1	2	0	0	0	2	0	2	1	2	1	1	5	3	5	1	5	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:32398870G>T	ENST00000307526.3	+	2	447	c.153G>T	c.(151-153)ctG>ctT	p.L51L	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	51	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TACAGGTTCTGGGGCTGCTGG	0.463																																																	0													142	135	138					3																	32398870		2203	4300	6503	SO:0001819	synonymous_variant	0			AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"chemokine-like factor super family 8", "chemokine-like factor superfamily 8"	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.153G>T	3.37:g.32398870G>T			A5D6I7|Q8IW01	Silent	SNP	pfam_Marvel,prints_MAL	p.L51	ENST00000307526.3	37	c.153	CCDS2652.1	3																																																																																			CMTM8	-	pfam_Marvel,prints_MAL	ENSG00000170293		0.463	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTM8	HGNC	protein_coding	OTTHUMT00000253253.1	-	0	55	0	G	NM_178868		32398870	1	tier1	-	no_errors	ENST00000307526	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.957	T	T	32398870	G	T	32398870	2	4	89	1	0	0	0	0	0	0	0	1	3596	1335	47	3		3	CMTM8	3	32398870	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		32398870	165623560	69	25435											
CAMKV	79012	genome.wustl.edu	37	chr3	49897669	49897669	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accatccttgatgttcttatCagaagcagcattgccagaaa	13	11	7	10	0	2	3	1	1	1	2	3	3	3	3	3	0	3	3	3	0	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:49897669C>G	ENST00000477224.1	-	10	1355	c.877G>C	c.(877-879)Gat>Cat	p.D293H	CAMKV_ENST00000498324.1_5'Flank|CAMKV_ENST00000467248.1_Missense_Mutation_p.D218H|CAMKV_ENST00000463537.1_Missense_Mutation_p.D293H|CAMKV_ENST00000488336.1_Missense_Mutation_p.D293H|CAMKV_ENST00000296471.7_Missense_Mutation_p.D265H|CAMKV_ENST00000466940.1_Missense_Mutation_p.D250H			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	293						cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATGTTCTTATCAGAAGCAGCA	0.488																																																	0													120	116	118					3																	49897669		2203	4300	6503	SO:0001583	missense	0			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.877G>C	3.37:g.49897669C>G	ENSP00000419195:p.Asp293His		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D293H	ENST00000477224.1	37	c.877	CCDS33762.1	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325264	0.81580	.	.	ENSG00000164076	ENST00000296471;ENST00000488336;ENST00000463537;ENST00000477224;ENST00000467248;ENST00000466940	T;T;T;T;T;T	0.67865	0.26;-0.29;1.07;-0.28;0.76;1.51	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.43919	D	0.000501	T	0.77916	0.4202	L	0.51914	1.62	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.539;1.0;0.999;0.999;1.0;1.0;0.999	B;D;D;D;D;D;D	0.78314	0.209;0.984;0.962;0.962;0.983;0.991;0.962	T	0.70630	-0.4819	10	0.22109	T	0.4	.	19.3923	0.94587	0.0:1.0:0.0:0.0	.	250;256;293;218;265;293;293	E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.;.;.;.;.;.;CAMKV_HUMAN	H	265;293;293;293;218;250	ENSP00000296471:D265H;ENSP00000418809:D293H;ENSP00000417614:D293H;ENSP00000419195:D293H;ENSP00000420053:D218H;ENSP00000420724:D250H	ENSP00000296471:D265H	D	-	1	0	CAMKV	49872673	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.825000	0.69286	2.882000	0.98803	0.655000	0.94253	GAT	CAMKV	-	superfamily_Kinase-like_dom	ENSG00000164076		0.488	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	HGNC	protein_coding	OTTHUMT00000350584.4	-	0	76	0	C	NM_024046		49897669	-1	tier1	-	no_errors	ENST00000477224	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	G	G	49897669	C	G	49897669	3	3	89	1	0	0	0	0	1	0	0	0	2615	826	29	5	636	5	CAMKV	3	49897669	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	17498799	49897669	148124761	70	25436											
DNAH1	25981	genome.wustl.edu	37	chr3	52386669	52386669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgaaggactgccagcaGctggccatgctctacaacaa	12	6	10	13	0	1	1	0	1	1	0	1	2	1	2	2	2	7	4	2	2	4	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:52386669G>T	ENST00000420323.2	+	18	3234	c.2973G>T	c.(2971-2973)caG>caT	p.Q991H		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	991	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGCCAGCAGCTGGCCATGC	0.597																																																	0													45	50	49					3																	52386669		2153	4260	6413	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"Axonemal dyneins"	2940	protein-coding gene	gene with protein product		603332	"dynein, axonemal, heavy polypeptide 1"			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2973G>T	3.37:g.52386669G>T	ENSP00000401514:p.Gln991His		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.Q991H	ENST00000420323.2	37	c.2973	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523992	0.44866	.	.	ENSG00000114841	ENST00000420323	T	0.24538	1.85	5.57	4.69	0.59074	.	0.264926	0.27076	N	0.021054	T	0.24122	0.0584	L	0.54323	1.7	0.37471	D	0.915599	B;B	0.14805	0.002;0.011	B;B	0.17979	0.005;0.02	T	0.13548	-1.0505	10	0.66056	D	0.02	.	7.3974	0.26944	0.1471:0.0:0.7077:0.1452	.	991;991	C9JXH6;Q9P2D7-3	.;.	H	991	ENSP00000401514:Q991H	ENSP00000401514:Q991H	Q	+	3	2	DNAH1	52361709	0.781000	0.28676	1.000000	0.80357	0.893000	0.52053	0.273000	0.18662	1.353000	0.45828	0.561000	0.74099	CAG	DNAH1	-	superfamily_P-loop_NTPase	ENSG00000114841		0.597	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0	42	0	G	NM_015512		52386669	1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T	T	52386669	G	T	52386669	3	4	89	1	0	0	0	0	1	0	0	0	4611	962	34	3	3039	3	DNAH1	3	52386669	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2489000	52386669	145635761	71	25437											
PRKCD	5580	genome.wustl.edu	37	chr3	53212438	53212438	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccactgcaggccccacCatggcgccgttcctgcgcat	6	6	10	19	3	0	0	0	0	0	0	1	0	1	0	7	2	3	3	7	2	0	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:53212438C>T	ENST00000394729.2	+	0	328				PRKCD_ENST00000477794.2_3'UTR|PRKCD_ENST00000330452.3_5'UTR	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta						activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	CAGGCCCCACCATGGCGCCGT	0.687																																																	0													32	32	32					3																	53212438		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.-1C>T	3.37:g.53212438C>T			B0KZ81|B2R834|Q15144|Q86XJ6	RNA	SNP	-	NULL	ENST00000394729.2	37	NULL	CCDS2870.1	3																																																																																			PRKCD	-	-	ENSG00000163932		0.687	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	-	0	58	0	C			53212438	1	tier1	-	no_errors	ENST00000477794	ensembl	human	known	74_37	rna	14.61	76	13	SNP	0.963	T	T	53212438	C	T	53212438	1	4	89	0	1	0	0	0	0	0	0	0	12551	609	21	3		3	PRKCD	3	53212438	5'UTR	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	825769	53212438	144809992	72	25438											
SLC9A10	285335	genome.wustl.edu	37	chr3	111999598	111999598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatatcacagggacaggaaTtggaaagtcttccaagtgcc	14	9	10	8	0	2	0	1	0	1	0	3	3	3	3	2	3	1	0	2	3	5	4	rs528974870		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:111999598T>A	ENST00000305815.5	-	3	373	c.121A>T	c.(121-123)Att>Ttt	p.I41F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.I41F|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	41					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GGGACAGGAATTGGAAAGTCT	0.323																																																	0													63	66	65					3																	111999598		2203	4300	6503	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.121A>T	3.37:g.111999598T>A	ENSP00000306627:p.Ile41Phe		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.I41F	ENST00000305815.5	37	c.121	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890755	0.52014	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.19250	2.16;2.16	5.65	1.46	0.22682	Cation/H+ exchanger (1);	0.243962	0.29355	N	0.012392	T	0.14141	0.0342	L	0.38531	1.155	0.33151	D	0.545645	B;P	0.42078	0.43;0.77	B;B	0.41764	0.095;0.366	T	0.19160	-1.0314	10	0.27785	T	0.31	.	4.4988	0.11855	0.1565:0.1767:0.0:0.6667	.	41;41	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	41	ENSP00000306627:I41F;ENSP00000420688:I41F	ENSP00000306627:I41F	I	-	1	0	SLC9A10	113482288	0.291000	0.24352	1.000000	0.80357	0.985000	0.73830	-0.129000	0.10515	0.425000	0.26087	0.397000	0.26171	ATT	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1		0	66	0	T	NM_183061		111999598	-1			no_errors	ENST00000305815	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.924	A	A	111999598	T	A	111999598	3	1	89	1	0	0	0	0	1	0	0	0	14755	1493	52	5	3520	5	SLC9A10	3	111999598	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	58787160	111999598	86022832	73	25439											
PARP14	54625	genome.wustl.edu	37	chr3	122420099	122420099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtacctattaaggagaGctgtgcaactcagtctctgt	9	13	11	8	0	2	1	1	0	1	1	3	2	2	1	1	1	4	3	1	1	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:122420099G>T	ENST00000474629.2	+	6	2964	c.2698G>T	c.(2698-2700)Gct>Tct	p.A900S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	900	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATTAAGGAGAGCTGTGCAACT	0.542																																																	0													52	49	50					3																	122420099		1957	4140	6097	SO:0001583	missense	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2698G>T	3.37:g.122420099G>T	ENSP00000418194:p.Ala900Ser		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.A900S	ENST00000474629.2	37	c.2698	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494711	0.44352	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.26957	1.7	5.46	3.68	0.42216	Appr-1-p processing (3);	0.751892	0.12395	N	0.472618	T	0.33323	0.0859	L	0.56396	1.775	0.09310	N	1	B;B	0.31640	0.047;0.333	B;B	0.40825	0.048;0.341	T	0.26677	-1.0096	10	0.45353	T	0.12	.	11.1196	0.48281	0.1504:0.0:0.8496:0.0	.	900;900	Q460N5-4;Q460N5	.;PAR14_HUMAN	S	900;819	ENSP00000418194:A900S	ENSP00000381228:A819S	A	+	1	0	PARP14	123902789	0.181000	0.23161	0.001000	0.08648	0.009000	0.06853	2.708000	0.47152	0.874000	0.35823	-0.183000	0.12914	GCT	PARP14	-	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	ENSG00000173193		0.542	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	-	0	75	0	G	NM_017554		122420099	1	tier1	-	no_errors	ENST00000474629	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.045	T	T	122420099	G	T	122420099	3	4	89	1	0	0	0	0	1	0	0	0	11497	971	34	3	2720	3	PARP14	3	122420099	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	10420501	122420099	75602331	74	25440											
SLC41A3	54946	genome.wustl.edu	37	chr3	125745256	125745256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggcgacatccacttcctCtcgagacaccacgcccaaca	10	7	6	18	3	1	1	0	0	1	1	4	3	3	1	4	1	1	0	4	1	1	2	rs373931665		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:125745256C>G	ENST00000315891.6	-	5	758	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	SLC41A3_ENST00000383598.2_Missense_Mutation_p.E148Q|SLC41A3_ENST00000514023.1_5'UTR|SLC41A3_ENST00000346785.5_Missense_Mutation_p.E138Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.E57Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.E174Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCCACTTCCTCTCGAGACACC	0.612																																																	0													92	67	76					3																	125745256		2194	4291	6485	SO:0001583	missense	0				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"Solute carriers"	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.520G>C	3.37:g.125745256C>G	ENSP00000326070:p.Glu174Gln		A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase	p.E174Q	ENST00000315891.6	37	c.520	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	C	6.145	0.394987	0.11638	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835;ENST00000514677;ENST00000513723;ENST00000512470;ENST00000510651	T;T;T;T;T;T;T;T	0.32515	1.45;1.48;1.46;1.45;1.5;1.5;1.46;1.52	4.58	0.423	0.16463	MgtE magnesium transporter, integral membrane (1);	0.342406	0.32548	N	0.005953	T	0.10508	0.0257	N	0.02802	-0.49	0.09310	N	1	B;B;B;B;B;B	0.27853	0.011;0.028;0.034;0.191;0.116;0.005	B;B;B;B;B;B	0.30316	0.016;0.067;0.068;0.069;0.114;0.017	T	0.31943	-0.9925	10	0.18710	T	0.47	-9.1856	6.334	0.21287	0.0:0.5092:0.3044:0.1865	.	57;174;174;138;174;148	B7Z4Y2;A8MQ22;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;.;S41A3_HUMAN;.	Q	174;138;148;165;174;57;189;226;174;165	ENSP00000353533:E174Q;ENSP00000264471:E138Q;ENSP00000373092:E148Q;ENSP00000326070:E174Q;ENSP00000422828:E189Q;ENSP00000425373:E226Q;ENSP00000421008:E174Q;ENSP00000423524:E165Q	ENSP00000326070:E174Q	E	-	1	0	SLC41A3	127227946	0.698000	0.27777	0.105000	0.21289	0.003000	0.03518	2.488000	0.45276	0.174000	0.19809	0.491000	0.48974	GAG	SLC41A3	-	pfam_SLC41_membr_dom	ENSG00000114544		0.612	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	-	0	82	0	C	NM_017836		125745256	-1	tier1	-	no_errors	ENST00000315891	ensembl	human	known	74_37	missense	7.14	78	6	SNP	0.008	G	G	125745256	C	G	125745256	3	3	89	1	0	0	0	0	1	0	0	0	14676	922	32	5	1133	5	SLC41A3	3	125745256	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3325157	125745256	72277174	75	25441											
AMOTL2	51421	genome.wustl.edu	37	chr3	134089688	134089688	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctcagcaggggggcccctCagtggggggccctgctggtt	3	7	17	14	0	2	0	2	0	0	0	2	0	2	0	4	7	2	3	4	7	0	1	rs200498719		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:134089688C>T	ENST00000422605.2	-	2	754	c.588G>A	c.(586-588)ctG>ctA	p.L196L	AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000514516.1_Silent_p.L254L|AMOTL2_ENST00000513145.1_Silent_p.L196L|AMOTL2_ENST00000249883.5_Silent_p.L196L			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	196					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGGGCCCCTCAGTGGGGGGC	0.662													C|||	1	0.000199681	8e-04	0	5008	,	,		14541	0		0	False		,,,				2504	0																0													26	34	32					3																	134089688		2192	4290	6482	SO:0001819	synonymous_variant	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"Leman coiled-coil protein", "angiomotin-like protein 2"	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.588G>A	3.37:g.134089688C>T			A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.L196	ENST00000422605.2	37	c.588		3																																																																																			AMOTL2	-	NULL	ENSG00000114019		0.662	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1		0	34	0	C	NM_016201		134089688	-1			no_errors	ENST00000249883	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.000	T	T	134089688	C	T	134089688	2	4	89	1	0	0	0	0	0	0	0	1	584	813	29	3		3	AMOTL2	3	134089688	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	8344432	134089688	63932742	76	25442											
PIK3CB	5291	genome.wustl.edu	37	chr3	138478028	138478028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatacctgcttaatataaGaaatggtagcttcccgaggt	14	11	8	8	1	0	1	0	0	0	1	1	2	1	1	2	2	4	3	2	2	7	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:138478028G>A	ENST00000477593.1	-	2	231	c.158C>T	c.(157-159)tCt>tTt	p.S53F	PIK3CB_ENST00000289153.2_Missense_Mutation_p.S53F			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	53	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTTAATATAAGAAATGGTAGC	0.373																																																	0													55	54	54					3																	138478028		2203	4300	6503	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.158C>T	3.37:g.138478028G>A	ENSP00000418143:p.Ser53Phe		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S53F	ENST00000477593.1	37	c.158	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229089	0.79688	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451;ENST00000465581	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.84	5.84	0.93424	Phosphatidylinositol 3-kinase, p85-binding (2);	0.186118	0.49916	D	0.000135	T	0.75737	0.3890	N	0.25890	0.77	0.80722	D	1	P	0.45531	0.86	P	0.54590	0.756	T	0.77846	-0.2436	10	0.72032	D	0.01	-13.8881	16.4042	0.83652	0.0:0.1313:0.8687:0.0	.	53	P42338	PK3CB_HUMAN	F	53	ENSP00000418143:S53F;ENSP00000289153:S53F;ENSP00000419857:S53F;ENSP00000420399:S53F	ENSP00000289153:S53F	S	-	2	0	PIK3CB	139960718	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.920000	0.56446	2.760000	0.94817	0.655000	0.94253	TCT	PIK3CB	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom	ENSG00000051382		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	-	0	90	0	G			138478028	-1	tier1	-	no_errors	ENST00000289153	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A	A	138478028	G	A	138478028	3	1	89	1	0	0	0	0	1	0	0	0	11953	942	33	3	3140	3	PIK3CB	3	138478028	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4388340	138478028	59544402	77	25443											
MRPS22	56945	genome.wustl.edu	37	chr3	139062880	139062880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgataatcatggcgcccctCggaacaactgtattgctgtg	9	11	10	11	2	1	1	1	1	0	0	2	2	1	2	2	2	3	2	2	2	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:139062880C>T	ENST00000495075.1	+	3	444	c.12C>T	c.(10-12)ctC>ctT	p.L4L	MRPS22_ENST00000478464.1_5'Flank|MRPS22_ENST00000310776.4_Silent_p.L4L|MRPS22_ENST00000465056.1_Silent_p.L4L			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	4						mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TGGCGCCCCTCGGAACAACTG	0.587																																																	0													51	51	51					3																	139062880		2203	4300	6503	SO:0001819	synonymous_variant	0			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"Mitochondrial ribosomal proteins / small subunits"	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.12C>T	3.37:g.139062880C>T			Q9H3I1	Silent	SNP	pfam_Ribosomal_S22_mit	p.L4	ENST00000495075.1	37	c.12	CCDS3107.1	3																																																																																			MRPS22	-	NULL	ENSG00000175110		0.587	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS22	HGNC	protein_coding	OTTHUMT00000358120.1	-	0	177	0	C	NM_020191		139062880	1	tier1	-	no_errors	ENST00000310776	ensembl	human	known	74_37	silent	12.98	114	17	SNP	0.000	T	T	139062880	C	T	139062880	2	4	89	1	0	0	0	0	0	0	0	1	9871	871	31	1		1	MRPS22	3	139062880	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	584852	139062880	58959550	78	25444											
ATR	545	genome.wustl.edu	37	chr3	142218487	142218487	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgctgccaaatagttttCcaccaaatcccactgtgaca	12	10	5	14	0	0	1	0	1	0	0	2	1	2	1	5	0	2	2	5	0	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:142218487C>A	ENST00000350721.4	-	31	5483	c.5362G>T	c.(5362-5364)Gaa>Taa	p.E1788*	ATR_ENST00000383101.3_Nonsense_Mutation_p.E1724*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1788	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAATAGTTTTCCACCAAATCC	0.433								Other conserved DNA damage response genes																																									0													137	133	135					3																	142218487		2203	4300	6503	SO:0001587	stop_gained	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.5362G>T	3.37:g.142218487C>A	ENSP00000343741:p.Glu1788*		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.E1788*	ENST00000350721.4	37	c.5362	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	46	12.924927	0.99706	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	4.95	4.95	0.65309	.	0.799496	0.11000	N	0.610606	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-16.3741	18.1893	0.89802	0.0:1.0:0.0:0.0	.	.	.	.	X	1788;1724	.	ENSP00000343741:E1788X	E	-	1	0	ATR	143701177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.150000	0.58098	2.299000	0.77371	0.655000	0.94253	GAA	ATR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000175054		0.433	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2		0	97	0	C	NM_001184		142218487	-1			no_errors	ENST00000350721	ensembl	human	known	74_37	nonsense	6.41	73	5	SNP	1.000	A	A	142218487	C	A	142218487	4	1	89	1	0	0	0	0	0	1	0	0	1205	864	30	3	2640	3	ATR	3	142218487	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3155607	142218487	55803943	79	25445											
HLTF	6596	genome.wustl.edu	37	chr3	148759441	148759441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacttctttctcagttcttCaggtgtatcatttcctagag	8	18	6	9	0	5	1	3	0	3	1	7	1	6	1	1	1	1	2	1	1	3	8			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:148759441C>G	ENST00000310053.5	-	20	2405	c.2212G>C	c.(2212-2214)Gaa>Caa	p.E738Q	HLTF_ENST00000465259.1_Missense_Mutation_p.E737Q|HLTF_ENST00000392912.2_Missense_Mutation_p.E738Q|HLTF_ENST00000494055.1_Missense_Mutation_p.E738Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	738					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTCAGTTCTTCAGGTGTATCA	0.348																																																	0													109	104	106					3																	148759441		2203	4300	6503	SO:0001583	missense	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"RING-type (C3HC4) zinc fingers"	11099	protein-coding gene	gene with protein product		603257	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2212G>C	3.37:g.148759441C>G	ENSP00000308944:p.Glu738Gln		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E738Q	ENST00000310053.5	37	c.2212	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255438	0.39896	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04	6.03	6.03	0.97812	.	.	.	.	.	T	0.73289	0.3568	L	0.29908	0.895	0.35264	D	0.77984	D;D;B	0.56746	0.977;0.977;0.346	P;P;B	0.47603	0.551;0.551;0.056	T	0.72144	-0.4379	9	0.13853	T	0.58	-31.3019	20.1857	0.98214	0.0:1.0:0.0:0.0	.	738;738;738	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	Q	737;738;738;738;206	ENSP00000420745:E737Q;ENSP00000308944:E738Q;ENSP00000376644:E738Q;ENSP00000420429:E738Q;ENSP00000420106:E206Q	ENSP00000308944:E738Q	E	-	1	0	HLTF	150242131	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.354000	0.52254	2.868000	0.98415	0.557000	0.71058	GAA	HLTF	-	superfamily_P-loop_NTPase	ENSG00000071794		0.348	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	-	0	70	0	C			148759441	-1	tier1	-	no_errors	ENST00000310053	ensembl	human	known	74_37	missense	18.57	57	13	SNP	1.000	G	G	148759441	C	G	148759441	3	3	89	1	0	0	0	0	1	0	0	0	7242	835	29	5	841	5	HLTF	3	148759441	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	6540954	148759441	49262989	80	25446											
DNAJB11	51726	genome.wustl.edu	37	chr3	186299223	186299223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagtgcaattgtcggcaaGagatgcggaccacccagctg	11	6	14	10	2	0	1	0	0	0	1	1	4	0	3	2	3	3	3	2	3	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr3:186299223G>C	ENST00000439351.1	+	6	1449	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	DNAJB11_ENST00000265028.3_Missense_Mutation_p.E174Q			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	174					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E174Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTGTCGGCAAGAGATGCGGAC	0.517																																																	1	Substitution - Missense(1)	urinary_tract(1)											96	93	94					3																	186299223		2203	4300	6503	SO:0001583	missense	0			AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"Heat shock proteins / DNAJ (HSP40)"	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.520G>C	3.37:g.186299223G>C	ENSP00000414398:p.Glu174Gln		Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E174Q	ENST00000439351.1	37	c.520	CCDS3277.1	3	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919309	0.92249	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.66995	-0.24;-0.24	5.85	4.98	0.66077	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.35249	1.045	0.80722	D	1	D	0.61080	0.989	P	0.52031	0.688	T	0.59322	-0.7476	10	0.21540	T	0.41	-27.0749	12.8604	0.57910	0.0787:0.0:0.9213:0.0	.	174	Q9UBS4	DJB11_HUMAN	Q	174	ENSP00000414398:E174Q;ENSP00000265028:E174Q	ENSP00000265028:E174Q	E	+	1	0	DNAJB11	187781917	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	9.869000	0.99810	1.469000	0.48083	0.655000	0.94253	GAG	DNAJB11	-	superfamily_HSP40/DnaJ_pept-bd	ENSG00000090520		0.517	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB11	HGNC	protein_coding	OTTHUMT00000344779.1		0	59	0	G			186299223	1			no_errors	ENST00000265028	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	C	C	186299223	G	C	186299223	3	2	89	1	0	0	0	0	1	0	0	0	4630	943	33	5	538	5	DNAJB11	3	186299223	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	37539782	186299223	11723207	81	25447											
TMEM128	85013	genome.wustl.edu	37	chr4	4248035	4248035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggatattaagtcttggaaGaggtttctcctttttctcaa	10	17	8	6	0	3	1	1	0	3	1	5	3	3	3	1	3	0	1	1	3	4	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr4:4248035G>C	ENST00000382753.4	-	2	142	c.133C>G	c.(133-135)Ctt>Gtt	p.L45V	TMEM128_ENST00000254742.2_Missense_Mutation_p.L21V|TMEM128_ENST00000540397.1_Missense_Mutation_p.L45V|TMEM128_ENST00000538516.1_Missense_Mutation_p.L45V			Q5BJH2	TM128_HUMAN	transmembrane protein 128	45						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AGTCTTGGAAGAGGTTTCTCC	0.353																																																	0													124	133	130					4																	4248035		2203	4300	6503	SO:0001583	missense	0			BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.133C>G	4.37:g.4248035G>C	ENSP00000372201:p.Leu45Val		B4DHS7|D3DVS3|Q5H9U6|Q96I94	Missense_Mutation	SNP	NULL	p.L45V	ENST00000382753.4	37	c.133		4	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958007	0.53400	.	.	ENSG00000132406	ENST00000254742;ENST00000382753;ENST00000538516;ENST00000540397	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.83	4.96	0.65561	.	0.213395	0.40144	N	0.001178	D	0.87091	0.6091	M	0.71581	2.175	0.48696	D	0.999694	D;D;D;P	0.67145	0.996;0.996;0.98;0.944	P;P;P;B	0.54924	0.764;0.764;0.554;0.415	D	0.85925	0.1448	10	0.36615	T	0.2	-33.1173	15.2345	0.73419	0.0:0.0:0.8589:0.1411	.	45;45;45;21	B7Z3K1;Q5BJH2;D3DVS1;Q5BJH2-2	.;TM128_HUMAN;.;.	V	21;45;45;45	ENSP00000254742:L21V;ENSP00000372201:L45V;ENSP00000442300:L45V;ENSP00000439174:L45V	ENSP00000254742:L21V	L	-	1	0	TMEM128	4298936	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.868000	0.63021	2.769000	0.95229	0.655000	0.94253	CTT	TMEM128	-	NULL	ENSG00000132406		0.353	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	TMEM128	HGNC	protein_coding	OTTHUMT00000246798.2		0	61	0	G	NM_032927		4248035	-1			no_errors	ENST00000382753	ensembl	human	known	74_37	missense	9.26	47	5	SNP	1.000	C	C	4248035	G	C	4248035	3	2	89	1	0	0	0	0	1	0	0	0	16088	942	33	5	376	5	TMEM128	4	4248035	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		4248035	186906241	82	25448											
LAP3	51056	genome.wustl.edu	37	chr4	17586670	17586670	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgccaattgatggagacGccagccaatgagatgacgcc	12	5	12	12	3	0	4	0	3	0	2	0	6	0	4	4	1	1	1	4	1	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr4:17586670G>T	ENST00000226299.4	+	6	889	c.615G>T	c.(613-615)acG>acT	p.T205T	LAP3_ENST00000606142.1_Silent_p.T174T|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	205					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGATGGAGACGCCAGCCAATG	0.468																																																	0													91	89	90					4																	17586670		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"peptidase S"	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.615G>T	4.37:g.17586670G>T			B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Leucine_aapep/pepB	p.T205	ENST00000226299.4	37	c.615	CCDS3422.1	4																																																																																			LAP3	-	pfam_Peptidase_M17_C	ENSG00000002549		0.468	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAP3	HGNC	protein_coding	OTTHUMT00000250365.1		0	62	0	G			17586670	1			no_errors	ENST00000226299	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.107	T	T	17586670	G	T	17586670	2	4	89	1	0	0	0	0	0	0	0	1	8651	1074	38	2		2	LAP3	4	17586670	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	13338635	17586670	173567606	83	25449											
KLB	152831	genome.wustl.edu	37	chr4	39450011	39450011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatttggattcttcacatCtgattttaaagctaaatcct	12	16	5	8	0	3	2	1	1	2	1	4	3	4	3	1	1	1	1	1	1	4	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr4:39450011C>G	ENST00000257408.4	+	5	2937	c.2840C>G	c.(2839-2841)tCt>tGt	p.S947C		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	947	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TTCTTCACATCTGATTTTAAA	0.373																																																	0													44	46	45					4																	39450011		2203	4300	6503	SO:0001583	missense	0			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2840C>G	4.37:g.39450011C>G	ENSP00000257408:p.Ser947Cys		Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.S947C	ENST00000257408.4	37	c.2840	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951393	0.53186	.	.	ENSG00000134962	ENST00000257408	T	0.32023	1.47	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.287529	0.40385	N	0.001106	T	0.53126	0.1777	L	0.57536	1.79	0.09310	N	1	D;D	0.71674	0.996;0.998	P;D	0.65773	0.898;0.938	T	0.44997	-0.9291	10	0.51188	T	0.08	-2.4774	20.0143	0.97474	0.0:1.0:0.0:0.0	.	938;947	B7ZL50;Q86Z14	.;KLOTB_HUMAN	C	947	ENSP00000257408:S947C	ENSP00000257408:S947C	S	+	2	0	KLB	39126406	0.838000	0.29461	0.266000	0.24541	0.969000	0.65631	3.445000	0.52921	2.740000	0.93945	0.313000	0.20887	TCT	KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000134962		0.373	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	-	0	100	0	C	NM_175737		39450011	1	tier1	-	no_errors	ENST00000257408	ensembl	human	known	74_37	missense	11.84	66	9	SNP	0.042	G	G	39450011	C	G	39450011	3	3	89	1	0	0	0	0	1	0	0	0	8359	913	32	5	2858	5	KLB	4	39450011	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	21863341	39450011	151704265	84	25450											
PTPN13	5783	genome.wustl.edu	37	chr4	87556416	87556416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcccaggtaatatgcacGtgtcactagctgaggccctg	8	11	11	11	1	1	1	1	1	0	0	2	1	2	1	2	2	2	4	2	2	3	4	rs201697573		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr4:87556416G>T	ENST00000411767.2	+	2	70	c.7G>T	c.(7-9)Gtg>Ttg	p.V3L	PTPN13_ENST00000511467.1_Missense_Mutation_p.V3L|PTPN13_ENST00000316707.6_Missense_Mutation_p.V3L|PTPN13_ENST00000427191.2_Missense_Mutation_p.V3L|PTPN13_ENST00000436978.1_Missense_Mutation_p.V3L|PTPN13_ENST00000502971.1_Missense_Mutation_p.V3L			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	3	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TAATATGCACGTGTCACTAGC	0.428																																																	0													58	58	58					4																	87556416		1933	4136	6069	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.7G>T	4.37:g.87556416G>T	ENSP00000407249:p.Val3Leu		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V3L	ENST00000411767.2	37	c.7	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769469	0.90020	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000502971;ENST00000316707;ENST00000411767;ENST00000507902;ENST00000511467	T;T;T;T;T;T;T	0.32753	2.15;2.15;1.44;2.15;2.15;2.15;2.15	5.65	4.81	0.61882	KIND (2);	0.000000	0.46145	D	0.000316	T	0.58921	0.2156	M	0.82323	2.585	0.53005	D	0.999963	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.91635	0.983;0.999;0.998;0.999	T	0.66073	-0.6014	10	0.87932	D	0	.	14.4557	0.67416	0.0716:0.0:0.9284:0.0	.	3;3;3;3	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	L	3	ENSP00000408368:V3L;ENSP00000394794:V3L;ENSP00000423531:V3L;ENSP00000322675:V3L;ENSP00000407249:V3L;ENSP00000422835:V3L;ENSP00000426626:V3L	ENSP00000322675:V3L	V	+	1	0	PTPN13	87775440	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.039000	0.93777	1.379000	0.46325	0.650000	0.86243	GTG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,smart_KIND	ENSG00000163629		0.428	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	77	0	G			87556416	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	87556416	G	T	87556416	3	4	89	1	0	0	0	0	1	0	0	0	12825	1145	40	2	9	2	PTPN13	4	87556416	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	48106405	87556416	103597860	85	25451											
KIAA1109	84162	genome.wustl.edu	37	chr4	123128701	123128701	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttttcttttgtagtgtatCtggcagcctgtggagaaaca	8	17	10	6	0	2	1	0	0	2	1	2	2	2	1	1	2	2	3	1	2	3	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr4:123128701C>G	ENST00000264501.4	+	17	2033	c.1660C>G	c.(1660-1662)Ctg>Gtg	p.L554V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L554V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L554V|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	554					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						tGTAGTGTATCTGGCAGCCTG	0.284																																																	0													129	112	117					4																	123128701		1810	4069	5879	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1660C>G	4.37:g.123128701C>G	ENSP00000264501:p.Leu554Val		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.L554V	ENST00000264501.4	37	c.1660	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.135|7.135	0.580663|0.580663	0.13686|0.13686	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	T;T;T|.	0.30981|.	2.11;2.11;1.51|.	5.54|5.54	3.83|3.83	0.44106|0.44106	.|.	857.788000|.	0.00166|.	N|.	0.000000|.	T|T	0.53174|0.53174	0.1780|0.1780	L|L	0.43152|0.43152	1.355|1.355	0.45541|0.45541	D|D	0.998493|0.998493	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.44159|0.44159	-0.9346|-0.9346	10|5	0.35671|.	T|.	0.21|.	.|.	7.4962|7.4962	0.27490|0.27490	0.0:0.6728:0.1211:0.2061|0.0:0.6728:0.1211:0.2061	.|.	554|.	Q2LD37|.	K1109_HUMAN|.	V|C	554|386	ENSP00000264501:L554V;ENSP00000373390:L554V;ENSP00000389925:L554V|.	ENSP00000264501:L554V|.	L|S	+|+	1|2	2|0	KIAA1109|KIAA1109	123348151|123348151	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.258000|0.258000	0.26162|0.26162	2.101000|2.101000	0.41787|0.41787	0.705000|0.705000	0.31890|0.31890	-0.251000|-0.251000	0.11542|0.11542	CTG|TCT	KIAA1109	-	NULL	ENSG00000138688		0.284	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	71	0	C	NM_020797		123128701	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	G	G	123128701	C	G	123128701	3	3	89	1	0	0	0	0	1	0	0	0	8235	912	32	5	1718	5	KIAA1109	4	123128701	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	35572285	123128701	68025575	86	25452											
KIAA1109	84162	genome.wustl.edu	37	chr4	123176314	123176314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtacattttcccctaagaaGtaaatacaacaggcttacaa	16	11	5	9	0	0	1	0	0	0	1	1	1	1	1	2	1	4	3	2	1	9	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr4:123176314G>T	ENST00000264501.4	+	40	6627	c.6254G>T	c.(6253-6255)aGt>aTt	p.S2085I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2085I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2085I			Q2LD37	K1109_HUMAN	KIAA1109	2085					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCCCTAAGAAGTAAATACAAC	0.328																																																	0													91	86	87					4																	123176314		1820	4075	5895	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6254G>T	4.37:g.123176314G>T	ENSP00000264501:p.Ser2085Ile		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S2085I	ENST00000264501.4	37	c.6254	CCDS43267.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.0|27.0|27.0	4.794573|4.794573|4.794573	0.90453|0.90453|0.90453	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	.|T;T;T|.	.|0.33438|.	.|2.17;2.17;1.41|.	5.75|5.75|5.75	5.75|5.75|5.75	0.90469|0.90469|0.90469	.|.|.	.|0.000000|.	.|0.64402|.	.|U|.	.|0.000011|.	T|T|T	0.74650|0.74650|0.74650	0.3744|0.3744|0.3744	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	.|D;D;D|.	.|0.69078|.	.|0.997;0.997;0.995|.	.|D;D;D|.	.|0.80764|.	.|0.994;0.994;0.986|.	T|T|T	0.71206|0.71206|0.71206	-0.4661|-0.4661|-0.4661	5|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	19.9227|19.9227|19.9227	0.97093|0.97093|0.97093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|2085;2084;2085|.	.|Q2LD37-6;Q2LD37-2;Q2LD37|.	.|.;.;K1109_HUMAN|.	N|I|L	42|2085|658	.|ENSP00000264501:S2085I;ENSP00000373390:S2085I;ENSP00000389925:S2085I|.	.|ENSP00000264501:S2085I|.	K|S|V	+|+|+	3|2|1	2|0|0	KIAA1109|KIAA1109|KIAA1109	123395764|123395764|123395764	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	7.821000|7.821000|7.821000	0.86641|0.86641|0.86641	2.703000|2.703000|2.703000	0.92315|0.92315|0.92315	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	AAG|AGT|GTA	KIAA1109	-	NULL	ENSG00000138688		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	59	0	G	NM_020797		123176314	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	123176314	G	T	123176314	3	4	89	1	0	0	0	0	1	0	0	0	8235	1029	36	3	6404	3	KIAA1109	4	123176314	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	47613	123176314	67977962	87	25453											
TRIO	7204	genome.wustl.edu	37	chr5	14391097	14391097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatgcagggtcctattttGacgtaagtaatagattccta	13	13	8	7	1	0	2	0	1	0	1	2	2	2	2	2	1	2	3	2	1	6	8			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:14391097G>A	ENST00000344204.4	+	27	4240	c.4216G>A	c.(4216-4218)Gac>Aac	p.D1406N	TRIO_ENST00000537187.1_Missense_Mutation_p.D1406N|TRIO_ENST00000509967.2_Missense_Mutation_p.D1357N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1406	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCCTATTTTGACGTAAGTAA	0.348																																																	0													80	79	79					5																	14391097		2202	4300	6502	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4216G>A	5.37:g.14391097G>A	ENSP00000339299:p.Asp1406Asn		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.D1406N	ENST00000344204.4	37	c.4216	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362799	0.82353	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.62498	0.02;0.02;0.02	5.29	5.29	0.74685	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	N	0.21583	0.68	0.80722	D	1	P;P;D	0.61080	0.844;0.918;0.989	P;B;D	0.75020	0.62;0.412;0.985	T	0.70619	-0.4822	10	0.46703	T	0.11	.	19.3048	0.94157	0.0:0.0:1.0:0.0	.	1357;1406;1406	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	N	1406;1406;1357;1093	ENSP00000339299:D1406N;ENSP00000446348:D1406N;ENSP00000445592:D1357N	ENSP00000339299:D1406N	D	+	1	0	TRIO	14444097	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.813000	0.99286	2.622000	0.88805	0.650000	0.86243	GAC	TRIO	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000038382		0.348	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0	62	0	G	NM_007118		14391097	1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	missense	10.14	62	7	SNP	1.000	A	A	14391097	G	A	14391097	3	1	89	1	0	0	0	0	1	0	0	0	16600	1290	45	3	4322	3	TRIO	5	14391097	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		14391097	166524163	88	25454											
FYB	2533	genome.wustl.edu	37	chr5	39202037	39202037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggcaatggcttctgtttCggggtggctgaattcttgtc	5	14	15	7	1	2	1	0	1	2	0	4	2	2	2	0	6	0	4	0	6	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:39202037C>T	ENST00000351578.6	-	2	1216	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	FYB_ENST00000505428.1_Silent_p.P342P|FYB_ENST00000540520.1_Silent_p.P352P|FYB_ENST00000512982.1_Silent_p.P342P|FYB_ENST00000515010.1_Silent_p.P342P	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	342					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTCTGTTTCGGGGTGGCTG	0.527																																																	0													141	143	142					5																	39202037		1925	4119	6044	SO:0001819	synonymous_variant	0			U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"FYN-binding protein (FYB-120/130)"			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1026G>A	5.37:g.39202037C>T			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.P352	ENST00000351578.6	37	c.1056	CCDS47200.1	5																																																																																			FYB	-	NULL	ENSG00000082074		0.527	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FYB	HGNC	protein_coding	OTTHUMT00000367098.1	-	0	201	0	C	NM_001465		39202037	-1	tier1	-	no_errors	ENST00000540520	ensembl	human	known	74_37	silent	5.02	264	14	SNP	0.017	T	T	39202037	C	T	39202037	2	4	89	1	0	0	0	0	0	0	0	1	6148	871	31	1		1	FYB	5	39202037	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	24810940	39202037	141713223	89	25455											
DAB2	1601	genome.wustl.edu	37	chr5	39390613	39390613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacgtaaccaaatgccCggttgtctgtcacatcacgg	11	8	8	14	3	3	0	2	0	1	0	3	0	3	0	2	2	2	2	2	2	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:39390613C>T	ENST00000320816.6	-	5	862	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	DAB2_ENST00000545653.1_Missense_Mutation_p.R132Q|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000509337.1_Missense_Mutation_p.R132Q|DAB2_ENST00000339788.6_Missense_Mutation_p.R132Q	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	132	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)	p.R132Q(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACCAAATGCCCGGTTGTCTGT	0.408																																																	1	Substitution - Missense(1)	prostate(1)											90	92	91					5																	39390613		2203	4300	6503	SO:0001583	missense	0			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.395G>A	5.37:g.39390613C>T	ENSP00000313391:p.Arg132Gln		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.R132Q	ENST00000320816.6	37	c.395	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.921685	0.97105	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.73	5.73	0.89815	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.968;0.995	T	0.78952	-0.2001	10	0.87932	D	0	-12.1185	20.2786	0.98501	0.0:1.0:0.0:0.0	.	132;132	P98082;P98082-3	DAB2_HUMAN;.	Q	132	ENSP00000313391:R132Q;ENSP00000345508:R132Q;ENSP00000439919:R132Q;ENSP00000426245:R132Q	ENSP00000313391:R132Q	R	-	2	0	DAB2	39426370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.358000	0.79466	2.868000	0.98415	0.557000	0.71058	CGG	DAB2	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000153071		0.408	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	-	0	74	0	C	NM_001343		39390613	-1	tier1	-	no_errors	ENST00000320816	ensembl	human	known	74_37	missense	9.09	59	6	SNP	1.000	T	T	39390613	C	T	39390613	3	4	89	1	0	0	0	0	1	0	0	0	4227	652	23	1	1957	1	DAB2	5	39390613	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	188576	39390613	141524647	90	25456											
PRKAA1	5562	genome.wustl.edu	37	chr5	40771927	40771927	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caataatccacaccagaaagGatctgttggaacagacgccg	15	6	9	11	2	1	2	0	0	1	2	2	4	2	4	3	2	1	1	3	2	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:40771927G>A	ENST00000397128.2	-	4	410	c.402C>T	c.(400-402)atC>atT	p.I134I	PRKAA1_ENST00000296800.4_Silent_p.I125I|PRKAA1_ENST00000354209.3_Silent_p.I149I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	CACCAGAAAGGATCTGTTGGA	0.393																																																	0													113	106	108					5																	40771927		1881	4136	6017	SO:0001819	synonymous_variant	0				CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"AMPK, alpha, 1"	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.402C>T	5.37:g.40771927G>A			A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I149	ENST00000397128.2	37	c.447	CCDS3932.2	5																																																																																			PRKAA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000132356		0.393	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA1	HGNC	protein_coding	OTTHUMT00000253833.2	-	0	85	0	G	NM_006251		40771927	-1	tier1	-	no_errors	ENST00000354209	ensembl	human	known	74_37	silent	7.29	89	7	SNP	1.000	A	A	40771927	G	A	40771927	2	1	89	1	0	0	0	0	0	0	0	1	12535	1164	41	3		3	PRKAA1	5	40771927	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1381314	40771927	140143333	91	25457											
SPATA9	83890	genome.wustl.edu	37	chr5	95018270	95018270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttaggatggtgggaaattCatctttaaactcatctacaa	13	14	7	7	0	5	0	2	0	3	0	5	2	5	2	0	3	2	0	0	3	6	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:95018270C>G	ENST00000274432.8	-	2	253	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.E38Q	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	38					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		GTGGGAAATTCATCTTTAAAC	0.313																																																	0													100	103	102					5																	95018270		2203	4300	6503	SO:0001583	missense	0			AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.112G>C	5.37:g.95018270C>G	ENSP00000274432:p.Glu38Gln		A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	NULL	p.E38Q	ENST00000274432.8	37	c.112	CCDS4076.1	5	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311529	0.40895	.	.	ENSG00000145757	ENST00000274432;ENST00000395899	T	0.53206	0.63	4.7	4.7	0.59300	.	0.510136	0.16769	N	0.200297	T	0.39517	0.1081	N	0.19112	0.55	0.26906	N	0.967013	B	0.29301	0.241	B	0.37422	0.249	T	0.44651	-0.9314	10	0.66056	D	0.02	-5.9019	13.0112	0.58731	0.0:1.0:0.0:0.0	.	38	Q9BWV2	SPAT9_HUMAN	Q	38	ENSP00000274432:E38Q	ENSP00000274432:E38Q	E	-	1	0	SPATA9	95044026	1.000000	0.71417	0.974000	0.42286	0.740000	0.42216	3.775000	0.55349	2.429000	0.82318	0.563000	0.77884	GAA	SPATA9	-	NULL	ENSG00000145757		0.313	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA9	HGNC	protein_coding	OTTHUMT00000304036.1	-	0	90	0	C	NM_031952		95018270	-1	tier1	-	no_errors	ENST00000274432	ensembl	human	known	74_37	missense	8.33	77	7	SNP	0.994	G	G	95018270	C	G	95018270	3	3	89	1	0	0	0	0	1	0	0	0	15063	835	29	5	668	5	SPATA9	5	95018270	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	54246343	95018270	85896990	92	25458											
PHAX	51808	genome.wustl.edu	37	chr5	125939526	125939526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaacatatggggtgctGtgctgcaggaacagaatcaa	14	9	11	7	0	1	1	1	0	0	1	1	2	1	2	0	3	6	3	0	3	6	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:125939526G>T	ENST00000297540.4	+	2	1056	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	121	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						ATGGGGTGCTGTGCTGCAGGA	0.473																																																	0													75	71	72					5																	125939526		2203	4300	6503	SO:0001583	missense	0			AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.361G>T	5.37:g.125939526G>T	ENSP00000297540:p.Val121Leu		Q9H8W1	Missense_Mutation	SNP	pfam_PHAX_RNA-binding_domain	p.V121L	ENST00000297540.4	37	c.361	CCDS4138.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.318035	0.95682	.	.	ENSG00000164902	ENST00000297540;ENST00000456348	T	0.24151	1.87	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.53718	-0.8399	10	0.72032	D	0.01	-28.3459	19.9279	0.97110	0.0:0.0:1.0:0.0	.	121	Q9H814	PHAX_HUMAN	L	121	ENSP00000297540:V121L	ENSP00000297540:V121L	V	+	1	0	PHAX	125967425	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.748000	0.98867	2.715000	0.92844	0.655000	0.94253	GTG	PHAX	-	NULL	ENSG00000164902		0.473	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHAX	HGNC	protein_coding	OTTHUMT00000250924.1	-	0	60	0	G	NM_032177		125939526	1	tier1	-	no_errors	ENST00000297540	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	125939526	G	T	125939526	3	4	89	1	0	0	0	0	1	0	0	0	11852	1377	48	3	367	3	PHAX	5	125939526	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	30921256	125939526	54975734	93	25459											
PCDHGB6	56100	genome.wustl.edu	37	chr5	140787790	140787790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagggagctgcgcgcaGaggcgccgggccggcccgcg	5	2	21	13	7	0	1	0	0	0	1	0	3	0	3	3	5	2	2	3	5	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:140787790G>T	ENST00000520790.1	+	1	21	c.21G>T	c.(19-21)caG>caT	p.Q7H	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	7					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCGCGCAGAggcgccggg	0.632											OREG0016861	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11	14	13					5																	140787790		1782	3962	5744	SO:0001583	missense	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"Cadherins / Protocadherins : Clustered"	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.21G>T	5.37:g.140787790G>T	ENSP00000428603:p.Gln7His	1659	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q7H	ENST00000520790.1	37	c.21	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	g	8.638	0.895327	0.17613	.	.	ENSG00000253305	ENST00000520790	T	0.50277	0.75	5.38	0.715	0.18186	.	.	.	.	.	T	0.26340	0.0643	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.20767	0.014;0.031	T	0.22591	-1.0212	9	0.37606	T	0.19	.	8.8363	0.35115	0.1208:0.3703:0.5089:0.0	.	7;7	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	7	ENSP00000428603:Q7H	ENSP00000428603:Q7H	Q	+	3	2	PCDHGB6	140767974	0.000000	0.05858	0.672000	0.29872	0.582000	0.36321	0.530000	0.23036	0.186000	0.20125	0.467000	0.42956	CAG	PCDHGB6	-	NULL	ENSG00000253305		0.632	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	-	0	103	0	G	NM_018926		140787790	1	tier1	-	no_errors	ENST00000520790	ensembl	human	known	74_37	missense	10.75	83	10	SNP	0.000	T	T	140787790	G	T	140787790	3	4	89	1	0	0	0	0	1	0	0	0	11606	933	33	3	23	3	PCDHGB6	5	140787790	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	14848264	140787790	40127470	94	25460											
KCTD16	57528	genome.wustl.edu	37	chr5	143586748	143586748	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccccccttcctccctgctCcctgccgaccgcaagtgggg	3	8	10	20	2	0	0	0	0	0	0	3	1	3	0	8	2	3	2	8	2	1	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:143586748C>G	ENST00000507359.3	+	2	1562	c.471C>G	c.(469-471)ctC>ctG	p.L157L	KCTD16_ENST00000512467.1_Silent_p.L157L	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	157					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCTCCCTGCTCCCTGCCGACC	0.552																																																	0													72	77	75					5																	143586748		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"potassium channel tetramerisation domain containing 16"			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.471C>G	5.37:g.143586748C>G			Q9P2M9	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.L157	ENST00000507359.3	37	c.471	CCDS34260.1	5																																																																																			KCTD16	-	NULL	ENSG00000183775		0.552	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD16	HGNC	protein_coding	OTTHUMT00000371898.3	-	0	114	0	C	XM_098368		143586748	1	tier1	-	no_errors	ENST00000507359	ensembl	human	known	74_37	silent	7.87	82	7	SNP	0.976	G	G	143586748	C	G	143586748	2	3	89	1	0	0	0	0	0	0	0	1	8130	842	30	5		5	KCTD16	5	143586748	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2798958	143586748	37328512	95	25461											
ABLIM3	22885	genome.wustl.edu	37	chr5	148622066	148622066	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggcagctggagacagtaAcatctaccggaaacccccga	12	6	10	13	2	2	1	0	0	2	1	2	4	2	2	3	3	4	3	3	3	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:148622066A>C	ENST00000506113.1	+	14	1798	c.1316A>C	c.(1315-1317)aAc>aCc	p.N439T	ABLIM3_ENST00000508983.1_Missense_Mutation_p.N406T|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000517451.1_5'Flank|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.N344T|ABLIM3_ENST00000356541.3_Intron|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.N439T			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	439					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGACAGTAACATCTACCGG	0.532																																																	0													113	102	106					5																	148622066		2203	4300	6503	SO:0001583	missense	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1316A>C	5.37:g.148622066A>C	ENSP00000425394:p.Asn439Thr		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.N439T	ENST00000506113.1	37	c.1316	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	A	23.1	4.372788	0.82573	.	.	ENSG00000173210	ENST00000326685;ENST00000309868;ENST00000506113;ENST00000508983	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.41	4.25	0.50352	.	0.045117	0.85682	D	0.000000	T	0.48390	0.1497	M	0.66439	2.03	0.80722	D	1	B;P	0.37122	0.313;0.583	B;B	0.33750	0.124;0.169	T	0.56486	-0.7971	10	0.62326	D	0.03	.	10.9537	0.47345	0.9266:0.0:0.0734:0.0	.	344;439	O94929-3;O94929	.;ABLM3_HUMAN	T	344;439;439;406	ENSP00000315841:N344T;ENSP00000310309:N439T;ENSP00000425394:N439T;ENSP00000420855:N406T	ENSP00000310309:N439T	N	+	2	0	ABLIM3	148602259	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.073000	0.76784	2.171000	0.68590	0.482000	0.46254	AAC	ABLIM3	-	NULL	ENSG00000173210		0.532	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1		0	69	0	A	NM_014945		148622066	1			no_errors	ENST00000309868	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	C	C	148622066	A	C	148622066	3	2	89	1	0	0	0	0	1	0	0	0	96	43	2	4	1370	4	ABLIM3	5	148622066	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	5035318	148622066	32293194	96	25462											
PPARGC1B	133522	genome.wustl.edu	37	chr5	149206271	149206271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccctcctggcagagctCaccaagaccctggatgacat	10	6	11	14	0	1	3	1	1	0	2	2	5	2	4	4	3	1	2	4	3	1	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:149206271C>T	ENST00000309241.5	+	3	320	c.288C>T	c.(286-288)ctC>ctT	p.L96L	PPARGC1B_ENST00000360453.4_Silent_p.L96L|PPARGC1B_ENST00000403750.1_Silent_p.L71L|PPARGC1B_ENST00000394320.3_Silent_p.L96L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	96					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGCAGAGCTCACCAAGACCC	0.582																																																	0													124	105	111					5																	149206271		2203	4300	6503	SO:0001819	synonymous_variant	0			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"RNA binding motif (RRM) containing"	30022	protein-coding gene	gene with protein product		608886	"peroxisome proliferative activated receptor, gamma, coactivator 1, beta"			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.288C>T	5.37:g.149206271C>T			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L96	ENST00000309241.5	37	c.288	CCDS4298.1	5																																																																																			PPARGC1B	-	NULL	ENSG00000155846		0.582	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	-	0	118	0	C	NM_133263		149206271	1	tier1	-	no_errors	ENST00000309241	ensembl	human	known	74_37	silent	6.33	74	5	SNP	1.000	T	T	149206271	C	T	149206271	2	4	89	1	0	0	0	0	0	0	0	1	12340	813	29	3		3	PPARGC1B	5	149206271	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	584205	149206271	31708989	97	25463											
GALNT10	55568	genome.wustl.edu	37	chr5	153677529	153677529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggaagaccttacccCatgaccgatgctgagagagt	14	6	11	10	1	0	4	0	2	0	2	0	8	0	5	4	1	3	1	4	1	4	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:153677529C>T	ENST00000297107.6	+	3	428	c.291C>T	c.(289-291)ccC>ccT	p.P97P	GALNT10_ENST00000425427.2_Silent_p.P97P|GALNT10_ENST00000377661.2_Silent_p.P97P	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	97					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GACCTTACCCCATGACCGATG	0.433																																																	0													183	163	170					5																	153677529		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"Glycosyltransferase family 2 domain containing"	19873	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 10"	608043	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.291C>T	5.37:g.153677529C>T			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.P97	ENST00000297107.6	37	c.291	CCDS4325.1	5																																																																																			GALNT10	-	NULL	ENSG00000164574		0.433	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	-	0	65	0	C	NM_198321		153677529	1	tier1	-	no_errors	ENST00000297107	ensembl	human	known	74_37	silent	15.07	62	11	SNP	0.996	T	T	153677529	C	T	153677529	2	4	89	1	0	0	0	0	0	0	0	1	6233	581	21	3		3	GALNT10	5	153677529	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	4471258	153677529	27237731	98	25464											
RNF145	153830	genome.wustl.edu	37	chr5	158603819	158603819	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatgtgagctgaaaacaGccaaatctgctttgttttca	13	12	8	8	0	2	2	1	2	1	0	2	2	2	2	1	0	5	4	1	0	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:158603819G>T	ENST00000424310.2	-	5	801	c.442C>A	c.(442-444)Ctg>Atg	p.L148M	RNF145_ENST00000519865.1_Missense_Mutation_p.L148M|RNF145_ENST00000274542.2_Missense_Mutation_p.L176M|RNF145_ENST00000521606.2_Missense_Mutation_p.L165M|RNF145_ENST00000518802.1_Missense_Mutation_p.L178M|RNF145_ENST00000520638.1_Missense_Mutation_p.L162M	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	148						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTGAAAACAGCCAAATCTGC	0.368																																																	0													42	39	40					5																	158603819		2202	4299	6501	SO:0001583	missense	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.442C>A	5.37:g.158603819G>T	ENSP00000409064:p.Leu148Met		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.L178M	ENST00000424310.2	37	c.532	CCDS56390.1	5	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651559	0.88056	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.79352	-1.26;-1.24;-1.24;-1.25;-1.25;-1.26;-1.25	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.84946	0.5585	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.77004	0.989;0.989;0.989;0.989;0.979;0.98	D	0.84890	0.0836	10	0.54805	T	0.06	-16.3093	19.6763	0.95934	0.0:0.0:1.0:0.0	.	164;165;162;178;148;176	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	M	176;148;148;164;165;178;148;162	ENSP00000274542:L176M;ENSP00000430397:L148M;ENSP00000409064:L148M;ENSP00000430753:L164M;ENSP00000445115:L165M;ENSP00000430955:L178M;ENSP00000429071:L162M	ENSP00000274542:L176M	L	-	1	2	RNF145	158536397	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.869000	0.99810	2.725000	0.93324	0.460000	0.39030	CTG	RNF145	-	NULL	ENSG00000145860		0.368	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1	-	0	157	0	G	NM_144726		158603819	-1	tier1	-	no_errors	ENST00000518802	ensembl	human	known	74_37	missense	18.75	64	15	SNP	1.000	T	T	158603819	G	T	158603819	3	4	89	1	0	0	0	0	1	0	0	0	13492	962	34	3	1577	3	RNF145	5	158603819	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4926290	158603819	22311441	99	25465											
C1QTNF2	114898	genome.wustl.edu	37	chr5	159776454	159776454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgtaggtgaagtagtagatCccaggcacgccgcagacgaa	12	6	13	10	4	0	3	0	1	0	2	2	4	1	3	2	2	0	5	2	2	5	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:159776454C>T	ENST00000393975.3	-	3	717	c.714G>A	c.(712-714)ggG>ggA	p.G238G		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	193	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTAGTAGATCCCAGGCACGC	0.582																																																	0													88	92	91					5																	159776454		2203	4300	6503	SO:0001819	synonymous_variant	0			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.714G>A	5.37:g.159776454C>T				Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G238	ENST00000393975.3	37	c.714	CCDS4351.2	5																																																																																			C1QTNF2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000145861		0.582	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	-	0	43	0	C			159776454	-1	tier1	-	no_errors	ENST00000393975	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.089	T	T	159776454	C	T	159776454	2	4	89	1	0	0	0	0	0	0	0	1	1970	842	30	3		3	C1QTNF2	5	159776454	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1172635	159776454	21138806	100	25466											
CPEB4	80315	genome.wustl.edu	37	chr5	173372061	173372061	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgggttcacctcactgCttcagtcaccagaatgggga	8	9	12	12	0	4	1	4	0	0	1	4	2	4	2	3	4	1	2	3	4	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:173372061C>A	ENST00000265085.5	+	5	2828	c.1374C>A	c.(1372-1374)tgC>tgA	p.C458*	CPEB4_ENST00000519835.1_Nonsense_Mutation_p.C433*|CPEB4_ENST00000517880.1_Nonsense_Mutation_p.C51*|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.C441*|CPEB4_ENST00000522336.1_Nonsense_Mutation_p.C68*|CPEB4_ENST00000520867.1_Nonsense_Mutation_p.C433*	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	458					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACCTCACTGCTTCAGTCACC	0.473																																																	0													179	161	167					5																	173372061		2203	4300	6503	SO:0001587	stop_gained	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"RNA binding motif (RRM) containing"	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1374C>A	5.37:g.173372061C>A	ENSP00000265085:p.Cys458*		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.C458*	ENST00000265085.5	37	c.1374	CCDS4390.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.089574|4.089574	0.76756|0.76756	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000519152|ENST00000265085;ENST00000520867;ENST00000334035;ENST00000519835;ENST00000522336;ENST00000517880	.|.	.|.	.|.	5.37|5.37	4.5|4.5	0.54988|0.54988	.|.	.|0.043271	.|0.85682	.|D	.|0.000000	T|.	0.33731|.	0.0873|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33979|.	-0.9847|.	3|.	.|0.02654	.|T	.|1	-13.2469|-13.2469	13.5199|13.5199	0.61561|0.61561	0.0:0.8635:0.0:0.1365|0.0:0.8635:0.0:0.1365	.|.	.|.	.|.	.|.	D|X	136|458;433;441;433;68;51	.|.	.|ENSP00000265085:C458X	A|C	+|+	2|3	0|2	CPEB4|CPEB4	173304667|173304667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	2.183000|2.183000	0.42565|0.42565	0.781000|0.781000	0.33589|0.33589	-0.797000|-0.797000	0.03246|0.03246	GCT|TGC	CPEB4	-	NULL	ENSG00000113742		0.473	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	-	0	124	0	C	NM_030627		173372061	1	tier1	-	no_errors	ENST00000265085	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	A	A	173372061	C	A	173372061	4	1	89	1	0	0	0	0	0	1	0	0	3810	805	28	3	1392	3	CPEB4	5	173372061	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	13595607	173372061	7543199	101	25467											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178566959	178566959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacgtgagcaggagccaaaCggactccaagcgccccagct	11	4	12	14	3	0	1	0	1	0	0	1	3	1	3	4	2	6	3	4	2	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr5:178566959C>T	ENST00000251582.7	-	11	1808	c.1707G>A	c.(1705-1707)ccG>ccA	p.P569P		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	569	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGAGCCAAACGGACTCCAAG	0.592																																																	0													141	146	144					5																	178566959		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1707G>A	5.37:g.178566959C>T				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.P569	ENST00000251582.7	37	c.1707	CCDS4444.1	5																																																																																			ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000087116		0.592	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	77	0	C	NM_014244		178566959	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.011	T	T	178566959	C	T	178566959	2	4	89	1	0	0	0	0	0	0	0	1	265	523	19	1		1	ADAMTS2	5	178566959	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5194898	178566959	2348301	102	25468											
FOXF2	2295	genome.wustl.edu	37	chr6	1390656	1390656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcgctcaacgagtgcttCatcaagctgcctaagggcct	8	10	9	14	2	4	0	3	0	1	0	5	1	4	0	2	1	4	3	2	1	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:1390656C>T	ENST00000259806.1	+	1	588	c.474C>T	c.(472-474)ttC>ttT	p.F158F		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	158					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		ACGAGTGCTTCATCAAGCTGC	0.647																																																	0													48	55	53					6																	1390656		2203	4300	6503	SO:0001819	synonymous_variant	0			U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"Forkhead boxes"	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.474C>T	6.37:g.1390656C>T			Q5TGJ1|Q9UQ85	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.F158	ENST00000259806.1	37	c.474	CCDS4472.1	6																																																																																			FOXF2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000137273		0.647	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXF2	HGNC	protein_coding	OTTHUMT00000043558.1	-	0	71	0	C			1390656	1	tier1	-	no_errors	ENST00000259806	ensembl	human	known	74_37	silent	14.63	70	12	SNP	1.000	T	T	1390656	C	T	1390656	2	4	89	1	0	0	0	0	0	0	0	1	6030	825	29	3		3	FOXF2	6	1390656	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		1390656	169724411	103	25469											
GCM2	9247	genome.wustl.edu	37	chr6	10877413	10877413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcgcagatggccggcctCagctgcaggcgggaaccgtc	6	7	15	13	4	1	1	1	0	0	1	3	2	1	2	3	4	3	3	3	4	1	1	rs387907432		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:10877413C>T	ENST00000379491.4	-	2	450	c.303G>A	c.(301-303)ctG>ctA	p.L101L	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	101					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGCCGGCCTCAGCTGCAGGC	0.587																																																	0													75	72	73					6																	10877413		2202	4300	6502	SO:0001819	synonymous_variant	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.303G>A	6.37:g.10877413C>T			D3GDV6|Q5THN5	Silent	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.L101	ENST00000379491.4	37	c.303	CCDS4517.1	6																																																																																			GCM2	-	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	ENSG00000124827		0.587	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	-	0	38	0	C			10877413	-1	tier1	-	no_errors	ENST00000379491	ensembl	human	known	74_37	silent	11.54	46	6	SNP	0.997	T	T	10877413	C	T	10877413	2	4	89	1	0	0	0	0	0	0	0	1	6323	813	29	3		3	GCM2	6	10877413	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	9486757	10877413	160237654	104	25470											
SYCP2L	221711	genome.wustl.edu	37	chr6	10924739	10924739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcttagaaacggagaaGataaagatatttatcattta	16	15	6	4	1	2	4	1	0	1	4	3	5	2	4	0	1	1	0	0	1	8	8			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:10924739G>T	ENST00000283141.6	+	15	1379	c.1083G>T	c.(1081-1083)aaG>aaT	p.K361N	SYCP2L_ENST00000543878.1_Missense_Mutation_p.K202N|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	361						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAACGGAGAAGATAAAGATAT	0.284																																																	0													61	56	58					6																	10924739		1801	4063	5864	SO:0001583	missense	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 177"	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1083G>T	6.37:g.10924739G>T	ENSP00000283141:p.Lys361Asn		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	NULL	p.K361N	ENST00000283141.6	37	c.1083	CCDS43423.1	6	.	.	.	.	.	.	.	.	.	.	G	4.418	0.077236	0.08485	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.46451	0.87;2.18	5.24	1.3	0.21679	.	1.146100	0.06229	N	0.688283	T	0.04679	0.0127	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.14023	0.003;0.01	T	0.29579	-1.0007	10	0.07813	T	0.8	0.0309	2.0335	0.03534	0.2179:0.1476:0.4836:0.1509	.	202;361	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	N	202;361	ENSP00000440676:K202N;ENSP00000283141:K361N	ENSP00000283141:K361N	K	+	3	2	SYCP2L	11032725	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.014000	0.12656	0.274000	0.22072	0.655000	0.94253	AAG	SYCP2L	-	NULL	ENSG00000153157		0.284	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	-	0	48	0	G	NM_194299		10924739	1	tier1	-	no_errors	ENST00000283141	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T	T	10924739	G	T	10924739	3	4	89	1	0	0	0	0	1	0	0	0	15480	933	33	3	1141	3	SYCP2L	6	10924739	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	47326	10924739	160190328	105	25471											
SLC17A2	10246	genome.wustl.edu	37	chr6	25916027	25916027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcctggacaaaaggaaatCtgccagctgacctcctaaaa	15	8	7	11	0	1	1	0	1	1	0	3	3	3	3	4	2	2	1	4	2	5	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:25916027C>T	ENST00000265425.3	-	8	1020	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	SLC17A2_ENST00000377850.3_Missense_Mutation_p.D334N|SLC17A2_ENST00000360488.3_Missense_Mutation_p.D334N			O00624	NPT3_HUMAN	solute carrier family 17, member 2	334					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAAAGGAAATCTGCCAGCTGA	0.443																																																	0													68	66	67					6																	25916027		2203	4300	6503	SO:0001583	missense	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"Solute carriers"	10930	protein-coding gene	gene with protein product		611049	"solute carrier family 17 (sodium phosphate), member 2"			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.1000G>A	6.37:g.25916027C>T	ENSP00000265425:p.Asp334Asn		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D334N	ENST00000265425.3	37	c.1000		6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723421	0.89298	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.69435	-0.4;-0.4;-0.4	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000031	D	0.86184	0.5872	H	0.97491	4.015	0.42936	D	0.994335	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.98;0.999	D	0.89921	0.4059	10	0.87932	D	0	.	13.9025	0.63815	0.0:1.0:0.0:0.0	.	334;334;334	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	N	334	ENSP00000353677:D334N;ENSP00000367081:D334N;ENSP00000265425:D334N	ENSP00000265425:D334N	D	-	1	0	SLC17A2	26024006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.801000	0.62532	2.730000	0.93505	0.650000	0.86243	GAT	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.443	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	-	0	87	0	C			25916027	-1	tier1	-	no_errors	ENST00000377850	ensembl	human	known	74_37	missense	13.21	46	7	SNP	1.000	T	T	25916027	C	T	25916027	3	4	89	1	0	0	0	0	1	0	0	0	14462	913	32	3	322	3	SLC17A2	6	25916027	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	14991288	25916027	145199040	106	25472											
ZNF184	7738	genome.wustl.edu	37	chr6	27420279	27420279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctcccgtatgaattttCtgatgttccataaagtggcc	8	17	7	9	1	2	2	0	2	2	0	4	2	3	2	3	1	0	2	3	1	4	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:27420279C>G	ENST00000211936.6	-	6	1343	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q353H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TATGAATTTTCTGATGTTCCA	0.393																																																	0													52	51	51					6																	27420279		2203	4300	6503	SO:0001583	missense	0			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"Zinc fingers, C2H2-type", "-"	12975	protein-coding gene	gene with protein product		602277	"zinc finger protein 184 (Kruppel-like)"				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1059G>C	6.37:g.27420279C>G	ENSP00000211936:p.Gln353His		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q353H	ENST00000211936.6	37	c.1059	CCDS4624.1	6	.	.	.	.	.	.	.	.	.	.	C	15.25	2.778597	0.49786	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087;ENST00000538681	T;T	0.18502	2.21;2.21	5.12	5.12	0.69794	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000397	T	0.15739	0.0379	M	0.64997	1.995	0.40487	D	0.980501	P	0.41008	0.735	B	0.43301	0.415	T	0.00934	-1.1509	10	0.48119	T	0.1	.	16.1059	0.81220	0.0:1.0:0.0:0.0	.	353	Q99676	ZN184_HUMAN	H	353;353;353;41	ENSP00000211936:Q353H;ENSP00000366636:Q353H	ENSP00000211936:Q353H	Q	-	3	2	ZNF184	27528258	0.183000	0.23186	1.000000	0.80357	0.997000	0.91878	0.804000	0.27098	2.660000	0.90430	0.557000	0.71058	CAG	ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000096654		0.393	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	-	0	87	0	C	NM_007149		27420279	-1	tier1	-	no_errors	ENST00000211936	ensembl	human	known	74_37	missense	14.29	102	17	SNP	1.000	G	G	27420279	C	G	27420279	3	3	89	1	0	0	0	0	1	0	0	0	17799	912	32	5	1200	5	ZNF184	6	27420279	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1504252	27420279	143694788	107	25473											
NEU1	4758	genome.wustl.edu	37	chr6	31828301	31828301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacttccgtagcgccaggagGcaccatgatcatcgctgagg	9	7	12	13	3	1	2	1	2	0	0	3	3	2	3	3	3	1	3	3	3	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:31828301G>A	ENST00000375631.4	-	4	842	c.713C>T	c.(712-714)gCc>gTc	p.A238V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	238					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GCGCCAGGAGGCACCATGATC	0.597																																																	0													138	123	128					6																	31828301		2203	4300	6503	SO:0001583	missense	0			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.713C>T	6.37:g.31828301G>A	ENSP00000364782:p.Ala238Val			Missense_Mutation	SNP	superfamily_Sialidases	p.A238V	ENST00000375631.4	37	c.713	CCDS4723.1	6	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.204974	0.06180	.	.	ENSG00000204386	ENST00000375631	D	0.84146	-1.81	5.32	3.51	0.40186	Neuraminidase (2);	0.795833	0.11898	N	0.518967	T	0.47857	0.1468	N	0.11651	0.15	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.36286	-0.9754	10	0.27785	T	0.31	-18.2575	4.0511	0.09796	0.0855:0.1605:0.588:0.166	.	238;238	E9PIF4;Q99519	.;NEUR1_HUMAN	V	238	ENSP00000364782:A238V	ENSP00000364782:A238V	A	-	2	0	NEU1	31936280	0.001000	0.12720	0.325000	0.25375	0.184000	0.23303	0.403000	0.20982	0.796000	0.33947	0.655000	0.94253	GCC	NEU1	-	superfamily_Sialidases	ENSG00000204386		0.597	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU1	HGNC	protein_coding	OTTHUMT00000076616.2	-	0	50	0	G			31828301	-1	tier1	-	no_errors	ENST00000375631	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.001	A	A	31828301	G	A	31828301	3	1	89	1	0	0	0	0	1	0	0	0	10380	1203	42	3	546	3	NEU1	6	31828301	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4408022	31828301	139286766	108	25474											
RDBP	7936	genome.wustl.edu	37	chr6	31922195	31922195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattccctttcctaggggctCgccgttcagggaatgaatcc	7	12	10	12	2	1	1	1	1	0	0	5	2	4	2	4	3	0	2	4	3	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:31922195C>T	ENST00000375429.3	-	8	993	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	NELFE_ENST00000444811.2_Missense_Mutation_p.R226Q|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375425.5_Missense_Mutation_p.R263Q	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	256					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CCTAGGGGCTCGCCGTTCAGG	0.483																																																	0													94	86	89					6																	31922195		2203	4300	6503	SO:0001583	missense	0			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"RNA binding motif (RRM) containing"	13974	protein-coding gene	gene with protein product		154040	"RD RNA-binding protein", "RD RNA binding protein"	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.767G>A	6.37:g.31922195C>T	ENSP00000364578:p.Arg256Gln		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R256Q	ENST00000375429.3	37	c.767	CCDS4730.1	6	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812152	0.90707	.	.	ENSG00000204356	ENST00000375429;ENST00000375425;ENST00000444811;ENST00000441998;ENST00000454913;ENST00000436289	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.42	5.42	0.78866	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	L	0.34521	1.04	0.58432	D	0.99999	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.47827	0.558;0.558;0.558	T	0.04090	-1.0978	10	0.45353	T	0.12	-14.3846	18.002	0.89200	0.0:1.0:0.0:0.0	.	226;251;256	B4DUN1;E9PCL7;P18615	.;.;NELFE_HUMAN	Q	256;263;226;251;256;251	ENSP00000364578:R256Q;ENSP00000364574:R263Q;ENSP00000388400:R226Q;ENSP00000397914:R251Q;ENSP00000409389:R256Q	ENSP00000364574:R263Q	R	-	2	0	RDBP	32030174	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.421000	0.66447	2.549000	0.85964	0.655000	0.94253	CGA	NELFE	-	NULL	ENSG00000204356		0.483	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELFE	HGNC	protein_coding	OTTHUMT00000076047.4	-	0	55	0	C			31922195	-1	tier1	-	no_errors	ENST00000375429	ensembl	human	known	74_37	missense	20.75	42	11	SNP	1.000	T	T	31922195	C	T	31922195	3	4	89	1	0	0	0	0	1	0	0	0	13233	884	31	1	391	1	RDBP	6	31922195	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	93894	31922195	139192872	109	25475											
RGL2	5863	genome.wustl.edu	37	chr6	33263890	33263890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagggggatcgccggggAgggccaggggcttaggaagg	8	3	22	8	2	0	0	0	0	0	0	1	3	0	3	2	9	1	2	2	9	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:33263890A>G	ENST00000497454.1	-	6	1178	c.683T>C	c.(682-684)cTc>cCc	p.L228P	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.L146P|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	228					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ATCGCCGGGGAGGGCCAGGGG	0.682																																																	0													60	73	69					6																	33263890		2203	4300	6503	SO:0001583	missense	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.683T>C	6.37:g.33263890A>G	ENSP00000420211:p.Leu228Pro		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L228P	ENST00000497454.1	37	c.683	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	A	8.616	0.890252	0.17613	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.32023	1.47;1.47	5.4	3.25	0.37280	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.769405	0.12143	N	0.495705	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.33954	-0.9848	10	0.23891	T	0.37	.	3.4077	0.07347	0.5613:0.22:0.2188:0.0	.	146;228	B4DG72;O15211	.;RGL2_HUMAN	P	228;92;146	ENSP00000420211:L228P;ENSP00000403070:L146P	ENSP00000400083:L92P	L	-	2	0	RGL2	33371868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.154000	0.31688	0.339000	0.23719	0.523000	0.50628	CTC	RGL2	-	superfamily_Ras_GEF_dom	ENSG00000237441		0.682	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2		0	71	0	A			33263890	-1			no_errors	ENST00000497454	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	G	G	33263890	A	G	33263890	3	3	89	1	0	0	0	0	1	0	0	0	13322	304	11	4	1702	4	RGL2	6	33263890	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	1341695	33263890	137851177	110	25476											
BRPF3	27154	genome.wustl.edu	37	chr6	36168850	36168850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcgtcccatacatccctGagggccagtggctatgccgc	7	8	12	14	2	0	1	0	1	0	0	2	1	2	1	4	3	2	1	4	3	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:36168850G>A	ENST00000357641.6	+	2	1004	c.751G>A	c.(751-753)Gag>Aag	p.E251K	BRPF3_ENST00000543502.1_Missense_Mutation_p.E251K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E251K|BRPF3_ENST00000534694.1_Missense_Mutation_p.E251K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E251K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E251K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	251					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATACATCCCTGAGGGCCAGTG	0.547																																																	0													90	81	84					6																	36168850		2203	4300	6503	SO:0001583	missense	0			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.751G>A	6.37:g.36168850G>A	ENSP00000350267:p.Glu251Lys		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.E251K	ENST00000357641.6	37	c.751	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981629	0.93044	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.79	5.79	0.91817	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92479	0.7612	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.92466	0.5981	10	0.87932	D	0	.	20.0368	0.97565	0.0:0.0:1.0:0.0	.	251;251;251	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	K	251	ENSP00000350267:E251K;ENSP00000345419:E251K;ENSP00000434501:E251K;ENSP00000445352:E251K;ENSP00000387368:E251K;ENSP00000436504:E251K	ENSP00000345419:E251K	E	+	1	0	BRPF3	36276828	1.000000	0.71417	0.988000	0.46212	0.994000	0.84299	9.414000	0.97362	2.735000	0.93741	0.563000	0.77884	GAG	BRPF3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000096070		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	-	0	43	0	G	NM_015695		36168850	1	tier1	-	no_errors	ENST00000357641	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	36168850	G	A	36168850	3	1	89	1	0	0	0	0	1	0	0	0	1525	1291	45	3	753	3	BRPF3	6	36168850	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2904960	36168850	134946217	111	25477											
FGD2	221472	genome.wustl.edu	37	chr6	36988338	36988338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgggagctgatggatgctGagtttccccactccttcctg	5	12	12	12	1	0	2	0	2	0	0	3	4	3	4	4	2	3	3	4	2	0	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:36988338G>A	ENST00000274963.8	+	10	1315	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	382	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GATGGATGCTGAGTTTCCCCA	0.652																																																	0													37	34	35					6																	36988338		2203	4300	6503	SO:0001583	missense	0			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	3664	protein-coding gene	gene with protein product		605091	"FGD1 family, member 2"			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1144G>A	6.37:g.36988338G>A	ENSP00000274963:p.Glu382Lys		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E382K	ENST00000274963.8	37	c.1144	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376358	0.82682	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.76186	-1.0	5.46	5.46	0.80206	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.42964	D	0.000638	T	0.75845	0.3905	L	0.41492	1.28	0.58432	D	0.999995	D	0.61697	0.99	P	0.61722	0.893	T	0.75314	-0.3361	10	0.44086	T	0.13	-20.2329	18.8995	0.92437	0.0:0.0:1.0:0.0	.	382	Q7Z6J4	FGD2_HUMAN	K	382;10	ENSP00000274963:E382K	ENSP00000274963:E382K	E	+	1	0	FGD2	37096316	1.000000	0.71417	0.953000	0.39169	0.157000	0.22087	4.446000	0.60014	2.569000	0.86673	0.585000	0.79938	GAG	FGD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000146192		0.652	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	-	0	113	0	G	NM_173558		36988338	1	tier1	-	no_errors	ENST00000274963	ensembl	human	known	74_37	missense	7.00	93	7	SNP	1.000	A	A	36988338	G	A	36988338	3	1	89	1	0	0	0	0	1	0	0	0	5855	1291	45	3	1182	3	FGD2	6	36988338	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	819488	36988338	134126729	112	25478											
TRERF1	55809	genome.wustl.edu	37	chr6	42224820	42224820	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggatttctgcttggaatCtcaagccaatgttgatgcgt	9	13	11	8	1	2	1	1	1	2	0	3	3	2	3	1	2	3	2	1	2	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:42224820C>G	ENST00000372922.4	-	11	2919	c.2357G>C	c.(2356-2358)aGa>aCa	p.R786T	TRERF1_ENST00000340840.2_Missense_Mutation_p.R703T|TRERF1_ENST00000354325.2_Missense_Mutation_p.R703T|TRERF1_ENST00000372917.4_Missense_Mutation_p.R703T|TRERF1_ENST00000541110.1_Missense_Mutation_p.R806T	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	786	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTTGGAATCTCAAGCCAAT	0.468																																																	0													145	139	141					6																	42224820		2203	4300	6503	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2357G>C	6.37:g.42224820C>G	ENSP00000362013:p.Arg786Thr		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R806T	ENST00000372922.4	37	c.2417	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996578	0.74818	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.74	5.74	0.90152	ELM2 domain (2);	0.000000	0.64402	D	0.000004	T	0.52092	0.1713	M	0.73962	2.25	0.42626	D	0.99336	D;D;D;D;B	0.89917	1.0;0.999;0.999;0.999;0.198	D;D;D;D;B	0.83275	0.996;0.996;0.996;0.994;0.132	T	0.44159	-0.9346	10	0.45353	T	0.12	-15.1337	20.2982	0.98569	0.0:1.0:0.0:0.0	.	703;806;786;542;542	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	T	806;703;786;703;703	ENSP00000439689:R806T;ENSP00000362008:R703T;ENSP00000362013:R786T;ENSP00000339438:R703T;ENSP00000346285:R703T	ENSP00000339438:R703T	R	-	2	0	TRERF1	42332798	0.946000	0.32159	1.000000	0.80357	0.998000	0.95712	2.797000	0.47877	2.873000	0.98535	0.563000	0.77884	AGA	TRERF1	-	pfam_ELM2_dom,pfscan_ELM2_dom	ENSG00000124496		0.468	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0	56	0	C	NM_033502		42224820	-1	tier1	-	no_errors	ENST00000541110	ensembl	human	known	74_37	missense	14.81	46	8	SNP	1.000	G	G	42224820	C	G	42224820	3	3	89	1	0	0	0	0	1	0	0	0	16523	913	32	5	1277	5	TRERF1	6	42224820	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5236482	42224820	128890247	113	25479											
XPO5	57510	genome.wustl.edu	37	chr6	43528002	43528002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggatttcatgcctgaaGagggctccccaagtcatctg	10	9	11	11	0	3	2	2	1	1	1	4	4	4	3	3	2	1	1	3	2	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:43528002G>A	ENST00000265351.7	-	11	1344	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	XPO5_ENST00000424378.2_5'Flank|RP3-337H4.10_ENST00000607635.1_RNA	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	378					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CATGCCTGAAGAGGGCTCCCC	0.378																																																	0													54	50	51					6																	43528002		1839	4072	5911	SO:0001819	synonymous_variant	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"Exportins"	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1134C>T	6.37:g.43528002G>A			Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L378	ENST00000265351.7	37	c.1134	CCDS47430.1	6																																																																																			XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.378	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	-	0	108	0	G	NM_020750		43528002	-1	tier1	-	no_errors	ENST00000265351	ensembl	human	known	74_37	silent	22.08	60	17	SNP	0.863	A	A	43528002	G	A	43528002	2	1	89	1	0	0	0	0	0	0	0	1	17496	929	33	3		3	XPO5	6	43528002	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1303182	43528002	127587065	114	25480											
RUNX2	860	genome.wustl.edu	37	chr6	45514825	45514825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatctctactatggcacttCgtcaggatcctatcagtttc	9	15	6	11	1	3	0	2	0	1	0	7	1	4	1	1	2	1	2	1	2	4	6	rs369481795		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:45514825C>T	ENST00000371438.1	+	8	1707	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	RUNX2_ENST00000359524.5_Missense_Mutation_p.S436L|RUNX2_ENST00000465038.2_Missense_Mutation_p.S450L|RUNX2_ENST00000541979.1_Missense_Mutation_p.S496L|RUNX2_ENST00000371436.6_Missense_Mutation_p.S428L|RUNX2_ENST00000371432.3_Missense_Mutation_p.S414L|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Missense_Mutation_p.S518L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	450	Interaction with KAT6B.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TATGGCACTTCGTCAGGATCC	0.577																																																	0								C	LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	102	90	94		1283,1349,1307	5.8	1	6		94	0,8600		0,0,4300	no	missense,missense,missense	RUNX2	NM_001015051.3,NM_001024630.3,NM_004348.3	145,145,145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	428/500,450/522,436/508	45514825	1,13005	2203	4300	6503	SO:0001583	missense	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1349C>T	6.37:g.45514825C>T	ENSP00000360493:p.Ser450Leu		O14614|O14615|O95181	Missense_Mutation	SNP	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.S518L	ENST00000371438.1	37	c.1553	CCDS43467.2	6	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269376	0.80469	2.27E-4	0.0	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.77	5.77	0.91146	Runx inhibition (1);	0.000000	0.85682	D	0.000000	T	0.52025	0.1709	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.96;0.992;0.983	T	0.51872	-0.8650	10	0.87932	D	0	-5.1805	20.3627	0.98863	0.0:1.0:0.0:0.0	.	496;450;436	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	L	450;518;496;450;428;436;414	ENSP00000420707:S450L;ENSP00000319087:S518L;ENSP00000446290:S496L;ENSP00000360493:S450L;ENSP00000360491:S428L;ENSP00000352514:S436L;ENSP00000360486:S414L	ENSP00000319087:S518L	S	+	2	0	RUNX2	45622803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.885000	0.99019	0.655000	0.94253	TCG	RUNX2	-	pfam_RunxI_C_dom,prints_AML1_Runt	ENSG00000124813		0.577	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2		0	39	0	C	NM_004348		45514825	1			no_errors	ENST00000352853	ensembl	human	known	74_37	missense	9.68	27	3	SNP	1.000	T	T	45514825	C	T	45514825	3	4	89	1	0	0	0	0	1	0	0	0	13793	893	31	1	1395	1	RUNX2	6	45514825	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1986823	45514825	125600242	115	25481											
TDRD6	221400	genome.wustl.edu	37	chr6	46656919	46656919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtggactatggaaggaagGagttagtgagttgcagcagc	12	9	16	4	0	0	1	0	1	0	0	0	5	0	5	0	4	3	4	0	4	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:46656919G>A	ENST00000316081.6	+	1	1054	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	TDRD6_ENST00000544460.1_Missense_Mutation_p.E352K|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	352	Tudor 2. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGAAGGAAGGAGTTAGTGAG	0.537																																																	0													121	111	114					6																	46656919		2203	4300	6503	SO:0001583	missense	0			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"Tudor domain containing"	21339	protein-coding gene	gene with protein product	"cancer/testis antigen 41.2", "spermatogenesis associated 36"	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1054G>A	6.37:g.46656919G>A	ENSP00000346065:p.Glu352Lys		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E352K	ENST00000316081.6	37	c.1054	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803556	0.70682	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.13420	2.59;2.59	5.45	5.45	0.79879	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.340416	0.33813	N	0.004525	T	0.25082	0.0609	M	0.62088	1.915	0.38878	D	0.956847	D;D	0.76494	0.999;0.999	D;D	0.77004	0.974;0.989	T	0.01053	-1.1467	10	0.19590	T	0.45	-16.1434	19.0814	0.93185	0.0:0.0:1.0:0.0	.	352;352	F5H5M3;O60522	.;TDRD6_HUMAN	K	352	ENSP00000443299:E352K;ENSP00000346065:E352K	ENSP00000346065:E352K	E	+	1	0	TDRD6	46764878	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.067000	0.64357	2.836000	0.97738	0.655000	0.94253	GAG	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000180113		0.537	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	-	0	70	0	G	XM_166443		46656919	1	tier1	-	no_errors	ENST00000316081	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	A	A	46656919	G	A	46656919	3	1	89	1	0	0	0	0	1	0	0	0	15781	1175	41	3	1056	3	TDRD6	6	46656919	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1142094	46656919	124458148	116	25482											
ZNF292	23036	genome.wustl.edu	37	chr6	87969973	87969973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaattgaaagtatgactgCttcagtggatgttgggaagt	13	12	13	3	0	1	3	1	2	0	1	1	5	1	5	0	2	1	3	0	2	4	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:87969973C>T	ENST00000369577.3	+	8	6669	c.6626C>T	c.(6625-6627)gCt>gTt	p.A2209V	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2204V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2209						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGTATGACTGCTTCAGTGGAT	0.383																																																	0													169	169	169					6																	87969973		1874	4098	5972	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6626C>T	6.37:g.87969973C>T	ENSP00000358590:p.Ala2209Val		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A2209V	ENST00000369577.3	37	c.6626	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710182	0.48517	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.48522	3.18;3.19;0.81	5.42	4.5	0.54988	.	0.424075	0.28176	N	0.016310	T	0.17916	0.0430	N	0.14661	0.345	0.29241	N	0.872653	B	0.17038	0.02	B	0.16722	0.016	T	0.11916	-1.0568	10	0.51188	T	0.08	.	14.929	0.70900	0.1437:0.8562:0.0:0.0	.	2209	O60281	ZN292_HUMAN	V	2209;2204;127	ENSP00000358590:A2209V;ENSP00000342847:A2204V;ENSP00000428857:A127V	ENSP00000342847:A2204V	A	+	2	0	ZNF292	88026692	0.772000	0.28567	1.000000	0.80357	0.993000	0.82548	3.665000	0.54532	2.541000	0.85698	0.591000	0.81541	GCT	ZNF292	-	NULL	ENSG00000188994		0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	59	0	C	NM_015021		87969973	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.808	T	T	87969973	C	T	87969973	3	4	89	1	0	0	0	0	1	0	0	0	17874	797	28	3	6656	3	ZNF292	6	87969973	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	41313054	87969973	83145094	117	25483											
SIM1	6492	genome.wustl.edu	37	chr6	100841766	100841766	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgaaatcccgaataCtgaaaccgagtaggggagaa	14	8	12	7	2	1	3	0	2	1	1	2	6	2	3	2	2	2	1	2	2	6	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:100841766C>G	ENST00000369208.3	-	11	1950		c.e11-1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ATCCCGAATACTGAAACCGAG	0.468																																																	0													27	28	28					6																	100841766		2184	4252	6436	SO:0001630	splice_region_variant	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"Basic helix-loop-helix proteins"	10882	protein-coding gene	gene with protein product		603128	"single-minded (Drosophila) homolog 1", "single-minded homolog 1 (Drosophila)"			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1168-1G>C	6.37:g.100841766C>G			Q5TDP7	Splice_Site	SNP	-	e10-1	ENST00000369208.3	37	c.1168-1	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107538	0.77096	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.607	0.95585	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIM1	100948487	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.827000	0.55745	2.629000	0.89072	0.655000	0.94253	.	SIM1	-	-	ENSG00000112246		0.468	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	-	0	29	0	C	NM_005068	Intron	100841766	-1	tier1	-	no_errors	ENST00000262901	ensembl	human	known	74_37	splice_site	44.00	13	11	SNP	1.000	G	G	100841766	C	G	100841766	5	3	89	1	0	0	0	0	0	0	1	0	14368	579	20	5	1141	5	SIM1	6	100841766	Splice_Site	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	12871793	100841766	70273301	118	25484											
REV3L	5980	genome.wustl.edu	37	chr6	111695431	111695431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatctttgaggacataccaGaagatatctgtgtattctgt	11	15	8	7	0	3	3	0	1	3	2	3	4	3	4	1	1	1	1	1	1	5	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:111695431G>A	ENST00000358835.3	-	14	4581	c.4127C>T	c.(4126-4128)tCt>tTt	p.S1376F	REV3L_ENST00000368805.1_Missense_Mutation_p.S1376F|REV3L_ENST00000368802.3_Missense_Mutation_p.S1376F|REV3L_ENST00000435970.1_Missense_Mutation_p.S1298F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1376					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGACATACCAGAAGATATCTG	0.308								DNA polymerases (catalytic subunits)																																									0													63	67	66					6																	111695431		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4127C>T	6.37:g.111695431G>A	ENSP00000351697:p.Ser1376Phe		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S1376F	ENST00000358835.3	37	c.4127	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	3.085	-0.188200	0.06299	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01548	4.87;4.87;4.87;4.78	5.99	2.93	0.34026	Ribonuclease H-like (1);	0.344998	0.22676	N	0.057019	T	0.00552	0.0018	L	0.40543	1.245	0.19300	N	0.99998	B	0.34181	0.44	B	0.31191	0.125	T	0.50030	-0.8875	10	0.35671	T	0.21	.	3.3072	0.07003	0.3722:0.0:0.3957:0.2321	.	1376	O60673	DPOLZ_HUMAN	F	1376;1376;1376;1298	ENSP00000357792:S1376F;ENSP00000357795:S1376F;ENSP00000351697:S1376F;ENSP00000402003:S1298F	ENSP00000351697:S1376F	S	-	2	0	REV3L	111802124	0.995000	0.38212	0.569000	0.28460	0.540000	0.34992	2.686000	0.46968	0.881000	0.35993	-0.137000	0.14449	TCT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.308	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	42	0	G	NM_002912		111695431	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.205	A	A	111695431	G	A	111695431	3	1	89	1	0	0	0	0	1	0	0	0	13285	942	33	3	5345	3	REV3L	6	111695431	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	10853665	111695431	59419636	119	25485											
REV3L	5980	genome.wustl.edu	37	chr6	111696179	111696179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgtgggagaccagcagcGaggtggagaagaatttatgg	12	8	16	5	1	1	3	0	0	1	3	1	6	1	3	1	4	2	1	1	4	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:111696179G>A	ENST00000358835.3	-	14	3833	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	REV3L_ENST00000368805.1_Missense_Mutation_p.R1127C|REV3L_ENST00000368802.3_Missense_Mutation_p.R1127C|REV3L_ENST00000435970.1_Missense_Mutation_p.R1049C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1127					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GACCAGCAGCGAGGTGGAGAA	0.413								DNA polymerases (catalytic subunits)																																									0													109	114	113					6																	111696179		2200	4297	6497	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.3379C>T	6.37:g.111696179G>A	ENSP00000351697:p.Arg1127Cys		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R1127C	ENST00000358835.3	37	c.3379	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085042	0.55861	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.07800	3.25;3.25;3.25;3.16	5.64	5.64	0.86602	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	L	0.59436	1.845	0.58432	D	0.99999	D	0.89917	1.0	D	0.85130	0.997	T	0.00542	-1.1680	10	0.87932	D	0	.	19.6921	0.96007	0.0:0.0:1.0:0.0	.	1127	O60673	DPOLZ_HUMAN	C	1127;1127;1127;1049	ENSP00000357792:R1127C;ENSP00000357795:R1127C;ENSP00000351697:R1127C;ENSP00000402003:R1049C	ENSP00000351697:R1127C	R	-	1	0	REV3L	111802872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.329000	0.79170	2.655000	0.90218	0.585000	0.79938	CGC	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.413	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	65	0	G	NM_002912		111696179	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	A	A	111696179	G	A	111696179	3	1	89	1	0	0	0	0	1	0	0	0	13285	1058	37	1	6093	1	REV3L	6	111696179	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	748	111696179	59418888	120	25486											
RFX6	222546	genome.wustl.edu	37	chr6	117249991	117249991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggtgaatcagcacgtttCtgtcatcagcagcattcgtt	10	13	9	9	2	4	1	3	1	1	0	5	1	4	1	0	1	3	5	0	1	2	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:117249991C>T	ENST00000332958.2	+	18	2484	c.2468C>T	c.(2467-2469)tCt>tTt	p.S823F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	823					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.S823F(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGCACGTTTCTGTCATCAGC	0.438																																																	1	Substitution - Missense(1)	skin(1)											171	148	156					6																	117249991		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2468C>T	6.37:g.117249991C>T	ENSP00000332208:p.Ser823Phe		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S823F	ENST00000332958.2	37	c.2468	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646648	0.87958	.	.	ENSG00000185002	ENST00000332958	T	0.62639	0.01	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.70483	-0.4859	10	0.87932	D	0	-19.841	20.0442	0.97604	0.0:1.0:0.0:0.0	.	823	Q8HWS3	RFX6_HUMAN	F	823	ENSP00000332208:S823F	ENSP00000332208:S823F	S	+	2	0	RFX6	117356684	1.000000	0.71417	0.856000	0.33681	0.847000	0.48162	7.398000	0.79919	2.814000	0.96858	0.655000	0.94253	TCT	RFX6	-	NULL	ENSG00000185002		0.438	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0	121	0	C	NM_173560		117249991	1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	T	T	117249991	C	T	117249991	3	4	89	1	0	0	0	0	1	0	0	0	13312	913	32	3	2538	3	RFX6	6	117249991	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5553812	117249991	53865076	121	25487											
SYNE1	23345	genome.wustl.edu	37	chr6	152784608	152784608	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattgccagcatcgttcatGgcagtatgctgctgaatcca	11	11	9	10	1	1	1	1	1	0	0	3	1	2	1	2	1	4	6	2	1	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:152784608G>T	ENST00000367255.5	-	19	2578	c.1977C>A	c.(1975-1977)gcC>gcA	p.A659A	SYNE1_ENST00000466159.2_Silent_p.A659A|SYNE1_ENST00000367248.3_Silent_p.A649A|SYNE1_ENST00000423061.1_Silent_p.A666A|SYNE1_ENST00000448038.1_Silent_p.A666A|SYNE1_ENST00000495090.2_Silent_p.A226A|SYNE1_ENST00000367253.4_Silent_p.A659A|SYNE1_ENST00000413186.2_Silent_p.A659A|SYNE1_ENST00000341594.5_Silent_p.A666A|SYNE1_ENST00000265368.4_Silent_p.A659A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	659					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATCGTTCATGGCAGTATGCT	0.388										HNSCC(10;0.0054)																																							0													77	71	73					6																	152784608		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1977C>A	6.37:g.152784608G>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A659	ENST00000367255.5	37	c.1977	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	90	0	G	NM_182961		152784608	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.970	T	T	152784608	G	T	152784608	2	4	89	1	0	0	0	0	0	0	0	1	15492	1335	47	3		3	SYNE1	6	152784608	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	35534617	152784608	18330459	122	25488											
SYNE1	23345	genome.wustl.edu	37	chr6	152831447	152831447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctaactatgctgtccacGgaggatgcgctgctggacaa	10	8	13	10	2	0	0	0	0	0	0	1	4	1	3	1	3	5	4	1	3	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:152831447G>A	ENST00000367255.5	-	8	1063	c.462C>T	c.(460-462)tcC>tcT	p.S154S	SYNE1_ENST00000466159.2_Silent_p.S154S|SYNE1_ENST00000367248.3_Silent_p.S161S|SYNE1_ENST00000423061.1_Silent_p.S161S|SYNE1_ENST00000448038.1_Silent_p.S161S|SYNE1_ENST00000367253.4_Silent_p.S154S|SYNE1_ENST00000413186.2_Silent_p.S154S|SYNE1_ENST00000341594.5_Silent_p.S154S|SYNE1_ENST00000265368.4_Silent_p.S154S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	154	Actin-binding.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTGTCCACGGAGGATGCGC	0.478										HNSCC(10;0.0054)																																							0													130	114	119					6																	152831447		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.462C>T	6.37:g.152831447G>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S154	ENST00000367255.5	37	c.462	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_CH-domain	ENSG00000131018		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	58	0	G	NM_182961		152831447	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	silent	21.05	60	16	SNP	0.007	A	A	152831447	G	A	152831447	2	1	89	1	0	0	0	0	0	0	0	1	15492	1103	39	1		1	SYNE1	6	152831447	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	46839	152831447	18283620	123	25489											
C6orf118	168090	genome.wustl.edu	37	chr6	165703509	165703509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttcttttcaaccttctCagtaagagtaagtcggtttt	8	17	6	10	1	4	1	2	0	3	1	6	1	4	1	2	1	1	3	2	1	3	8			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:165703509C>T	ENST00000230301.8	-	7	1188	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	C6orf118_ENST00000494696.2_5'UTR|C6orf118_ENST00000543069.1_3'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	390										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCAACCTTCTCAGTAAGAGTA	0.303																																																	0													74	73	74					6																	165703509		2203	4296	6499	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1168G>A	6.37:g.165703509C>T	ENSP00000230301:p.Glu390Lys		Q8TC11	Missense_Mutation	SNP	superfamily_Ribonuclease/ribotoxin	p.E390K	ENST00000230301.8	37	c.1168	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587128	0.46110	.	.	ENSG00000112539	ENST00000230301	T	0.18502	2.21	5.44	2.51	0.30379	.	0.281201	0.29396	N	0.012265	T	0.15869	0.0382	L	0.58810	1.83	0.27591	N	0.949286	D	0.53312	0.959	P	0.54026	0.74	T	0.03684	-1.1013	10	0.72032	D	0.01	-29.8658	13.3416	0.60549	0.0:0.5329:0.4671:0.0	.	390	Q5T5N4	CF118_HUMAN	K	390	ENSP00000230301:E390K	ENSP00000230301:E390K	E	-	1	0	C6orf118	165623499	0.881000	0.30235	0.004000	0.12327	0.209000	0.24338	1.534000	0.36051	0.289000	0.22422	-0.181000	0.13052	GAG	C6orf118	-	NULL	ENSG00000112539		0.303	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	HGNC	protein_coding	OTTHUMT00000043026.1	-	0	45	0	C	NM_144980		165703509	-1	tier1	-	no_errors	ENST00000230301	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.010	T	T	165703509	C	T	165703509	3	4	89	1	0	0	0	0	1	0	0	0	2330	835	29	3	253	3	C6orf118	6	165703509	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	12872062	165703509	5411558	124	25490											
PDE10A	10846	genome.wustl.edu	37	chr6	165752833	165752833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggctgtattcccaatttCttcatttcatcaccctaaga	11	15	4	11	0	4	1	3	0	1	1	5	1	5	1	2	1	0	2	2	1	4	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:165752833C>A	ENST00000366882.1	-	21	2236	c.2082G>T	c.(2080-2082)aaG>aaT	p.K694N	PDE10A_ENST00000539869.2_Missense_Mutation_p.K704N|PDE10A_ENST00000354448.4_Missense_Mutation_p.K694N			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	694					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TTCCCAATTTCTTCATTTCAT	0.333																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													119	121	120					6																	165752833		2203	4300	6503	SO:0001583	missense	0			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"Phosphodiesterases"	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2082G>T	6.37:g.165752833C>A	ENSP00000355847:p.Lys694Asn		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.K704N	ENST00000366882.1	37	c.2112		6	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807744	0.70797	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.78924	-1.22;-1.22	5.78	5.78	0.91487	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	M	0.89095	3.005	0.58432	D	0.999994	D;P	0.89917	1.0;0.866	D;P	0.83275	0.996;0.544	D	0.88909	0.3358	10	0.87932	D	0	.	11.3738	0.49715	0.0:0.8608:0.0:0.1392	.	704;694	Q9ULW9;Q9Y233	.;PDE10_HUMAN	N	694;722;704;694;693	ENSP00000355847:K694N;ENSP00000346435:K694N	ENSP00000341187:K704N	K	-	3	2	PDE10A	165672823	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	1.425000	0.34859	2.749000	0.94314	0.655000	0.94253	AAG	PDE10A	-	pfam_PDEase_catalytic_dom	ENSG00000112541		0.333	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	-	0	112	0	C			165752833	-1	tier1	-	no_errors	ENST00000539869	ensembl	human	known	74_37	missense	14.14	85	14	SNP	1.000	A	A	165752833	C	A	165752833	3	1	89	1	0	0	0	0	1	0	0	0	11669	912	32	3	269	3	PDE10A	6	165752833	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	49324	165752833	5362234	125	25491											
T	6862	genome.wustl.edu	37	chr6	166578287	166578287	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatagttagaattctctcaCctttcctttgcatcaaggaa	11	16	5	9	0	3	1	2	0	1	1	5	2	4	2	2	1	1	2	2	1	6	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr6:166578287C>T	ENST00000296946.2	-	5	1137		c.e5+1		T_ENST00000366871.3_Splice_Site	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)						anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AATTCTCTCACCTTTCCTTTG	0.318									Chordoma, Familial Clustering of																																								0													52	56	55					6																	166578287		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"T-boxes"	11515	protein-coding gene	gene with protein product		601397	"T brachyury (mouse) homolog"			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.668+1G>A	6.37:g.166578287C>T			E7ERD6|Q4KMP4	Splice_Site	SNP	-	e4+1	ENST00000296946.2	37	c.668+1	CCDS5290.1	6	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359799	0.82353	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5482	0.87869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	T	166498277	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.180000	0.65048	2.380000	0.81148	0.650000	0.86243	.	T	-	-	ENSG00000164458		0.318	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	-	0	82	0	C	NM_003181	Intron	166578287	-1	tier1	-	no_errors	ENST00000296946	ensembl	human	known	74_37	splice_site	6.80	96	7	SNP	1.000	T	T	166578287	C	T	166578287	5	4	89	1	0	0	0	0	0	0	1	0	15535	521	18	3	658	3	T	6	166578287	Splice_Site	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	825454	166578287	4536780	126	25492											
DNAH11	8701	genome.wustl.edu	37	chr7	21603811	21603811	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctttgctttcagctcttctCgaagcccaagatgtggaact	8	14	8	11	1	4	1	1	0	3	1	5	3	4	2	1	1	4	2	1	1	3	3	rs376448045		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:21603811C>G	ENST00000409508.3	+	6	1021	c.990C>G	c.(988-990)ctC>ctG	p.L330L	DNAH11_ENST00000328843.6_Silent_p.L330L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	330	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L330L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGCTCTTCTCGAAGCCCAAG	0.418									Kartagener syndrome																																								1	Substitution - coding silent(1)	endometrium(1)											92	86	88					7																	21603811		1854	4084	5938	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.990C>G	7.37:g.21603811C>G			Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L330	ENST00000409508.3	37	c.990		7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom-1	ENSG00000105877		0.418	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	46	0	C	NM_003777		21603811	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	11.36	39	5	SNP	0.004	G	G	21603811	C	G	21603811	2	3	89	1	0	0	0	0	0	0	0	1	4613	871	31	5		5	DNAH11	7	21603811	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		21603811	137534852	127	25493											
GLI3	2737	genome.wustl.edu	37	chr7	42085103	42085103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccatctgatgatagtattCtgctgggctgactcctgcat	7	13	11	10	0	2	3	0	3	2	0	3	3	3	3	2	2	2	4	2	2	2	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:42085103C>T	ENST00000395925.3	-	6	790	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	236					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGATAGTATTCTGCTGGGCTG	0.547									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0			GRCh37	CM990700	GLI3	M							60	64	62					7																	42085103		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.706G>A	7.37:g.42085103C>T	ENSP00000379258:p.Glu236Lys		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E236K	ENST00000395925.3	37	c.706	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530724	0.85706	.	.	ENSG00000106571	ENST00000395925	T	0.53423	0.62	5.49	5.49	0.81192	.	0.091026	0.85682	D	0.000000	T	0.57184	0.2036	M	0.66939	2.045	0.80722	D	1	P	0.45672	0.864	P	0.46543	0.52	T	0.60712	-0.7209	10	0.56958	D	0.05	.	19.3764	0.94512	0.0:1.0:0.0:0.0	.	236	P10071	GLI3_HUMAN	K	236	ENSP00000379258:E236K	ENSP00000379258:E236K	E	-	1	0	GLI3	42051628	1.000000	0.71417	0.926000	0.36857	0.881000	0.50899	7.478000	0.81082	2.582000	0.87167	0.591000	0.81541	GAA	GLI3	-	NULL	ENSG00000106571		0.547	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	74	0	C	NM_000168		42085103	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	15.15	84	15	SNP	1.000	T	T	42085103	C	T	42085103	3	4	89	1	0	0	0	0	1	0	0	0	6465	922	32	3	4076	3	GLI3	7	42085103	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	20481292	42085103	117053560	128	25494											
TNS3	64759	genome.wustl.edu	37	chr7	47408374	47408374	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcactctgggctgggcctgGacgaggccaggattgtctgc	5	8	17	11	1	2	0	0	0	2	0	2	3	2	2	2	6	1	2	2	6	0	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:47408374G>C	ENST00000398879.1	-	17	2235	c.1869C>G	c.(1867-1869)gtC>gtG	p.V623V	TNS3_ENST00000311160.9_Silent_p.V623V|TNS3_ENST00000355730.3_Silent_p.V383V			Q68CZ2	TENS3_HUMAN	tensin 3	623					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTGGGCCTGGACGAGGCCAG	0.662																																																	0													39	45	43					7																	47408374		2046	4203	6249	SO:0001819	synonymous_variant	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"SH2 domain containing"	21616	protein-coding gene	gene with protein product	"tumor endothelial marker 6"	606825	"tensin-like SH2 domain-containing 1"	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1869C>G	7.37:g.47408374G>C			B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.V623	ENST00000398879.1	37	c.1869	CCDS5506.2	7																																																																																			TNS3	-	NULL	ENSG00000136205		0.662	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	-	0	44	0	G	NM_022748		47408374	-1	tier1	-	no_errors	ENST00000311160	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.000	C	C	47408374	G	C	47408374	2	2	89	1	0	0	0	0	0	0	0	1	16391	1161	41	5		5	TNS3	7	47408374	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5323271	47408374	111730289	129	25495											
MRPS17	51373	genome.wustl.edu	37	chr7	56022736	56022736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactggctgagatcgttttCaaagttggaaaagtcataga	14	11	11	5	1	2	2	2	1	0	2	3	5	2	3	0	2	1	3	0	2	5	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:56022736C>T	ENST00000285298.4	+	3	387	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MRPS17_ENST00000426595.1_Silent_p.F181F	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	86					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGATCGTTTTCAAAGTTGGAA	0.478																																																	0													121	121	121					7																	56022736		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"Mitochondrial ribosomal proteins / small subunits"	14047	protein-coding gene	gene with protein product	"28S ribosomal protein S17, mitochondrial"	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.258C>T	7.37:g.56022736C>T			Q86X15	Silent	SNP	pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold	p.F86	ENST00000285298.4	37	c.258	CCDS5520.1	7																																																																																			MRPS17	-	superfamily_NA-bd_OB-fold	ENSG00000239789		0.478	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS17	HGNC	protein_coding	OTTHUMT00000251527.2	-	0	115	0	C	NM_015969		56022736	1	tier1	-	no_errors	ENST00000285298	ensembl	human	known	74_37	silent	13.16	66	10	SNP	1.000	T	T	56022736	C	T	56022736	2	4	89	1	0	0	0	0	0	0	0	1	9865	825	29	3		3	MRPS17	7	56022736	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	8614362	56022736	103115927	130	25496											
SUMF2	25870	genome.wustl.edu	37	chr7	56140697	56140697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctttatagggattttGtcagggagaaaaagtatcgg	12	14	12	3	1	2	1	1	0	1	1	3	3	2	2	0	3	0	1	0	3	6	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:56140697G>T	ENST00000413756.1	+	3	255	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	SUMF2_ENST00000395435.2_Missense_Mutation_p.V97F|SUMF2_ENST00000434526.2_Missense_Mutation_p.V97F|SUMF2_ENST00000395436.2_Missense_Mutation_p.V97F|SUMF2_ENST00000437307.2_Missense_Mutation_p.V78F|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000342190.6_Missense_Mutation_p.V97F			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	78					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGGGATTTTGTCAGGGAGAA	0.483																																																	0													112	115	114					7																	56140697		2203	4300	6503	SO:0001583	missense	0			AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.232G>T	7.37:g.56140697G>T	ENSP00000406445:p.Val78Phe		B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.V97F	ENST00000413756.1	37	c.289		7	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748870	0.30955	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	D;D;D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76	5.24	2.44	0.29823	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.175437	0.50627	D	0.000110	D	0.97971	0.9332	H	0.94306	3.52	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;0.998;0.997;1.0;0.998	D;D;D;D;D;D	0.78314	0.973;0.948;0.975;0.975;0.974;0.991	D	0.97587	1.0114	10	0.87932	D	0	0.2709	10.7153	0.46008	0.2137:0.0:0.7863:0.0	.	78;97;100;78;97;100	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7;F8WA42;C9JL30	.;.;.;SUMF2_HUMAN;.;.	F	97;97;97;100;97;78;78;75	ENSP00000378824:V97F;ENSP00000400922:V97F;ENSP00000378823:V97F;ENSP00000414434:V100F;ENSP00000341938:V97F;ENSP00000415989:V78F;ENSP00000406445:V78F;ENSP00000410796:V75F	ENSP00000341938:V97F	V	+	1	0	SUMF2	56108191	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.113000	0.64640	0.421000	0.25980	-0.137000	0.14449	GTC	SUMF2	-	pfam_FGE_dom,superfamily_C-type_lectin_fold	ENSG00000129103		0.483	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000341457.2	-	0	79	0	G	NM_015411		56140697	1	tier1	-	no_errors	ENST00000342190	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	56140697	G	T	56140697	3	4	89	1	0	0	0	0	1	0	0	0	15433	1377	48	3	299	3	SUMF2	7	56140697	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	117961	56140697	102997966	131	25497											
ZNF117	51351	genome.wustl.edu	37	chr7	64438943	64438943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagctttgccacattcctCacatttgtagggtttctctc	9	15	6	11	0	2	0	1	0	1	0	5	0	3	0	2	1	2	3	2	1	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:64438943C>G	ENST00000282869.6	-	4	2290	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	336					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CCACATTCCTCACATTTGTAG	0.368																																																	0													45	48	47					7																	64438943		2141	4260	6401	SO:0001583	missense	0			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"Zinc fingers, C2H2-type"	12897	protein-coding gene	gene with protein product		194624	"zinc finger protein 117 (HPF9)"			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1006G>C	7.37:g.64438943C>G	ENSP00000282869:p.Glu336Gln		Q02313|Q7Z7Q7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E336Q	ENST00000282869.6	37	c.1006	CCDS43593.1	7	.	.	.	.	.	.	.	.	.	.	.	11.02	1.517243	0.27123	.	.	ENSG00000152926	ENST00000398695;ENST00000282869	T	0.07444	3.19	1.11	-0.927	0.10451	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	N	0.25789	0.76	0.09310	N	1	B	0.30763	0.294	B	0.40410	0.328	T	0.44174	-0.9345	9	0.72032	D	0.01	.	1.668	0.02805	0.2914:0.2748:0.0:0.4337	.	336	Q03924	ZN117_HUMAN	Q	336	ENSP00000282869:E336Q	ENSP00000282869:E336Q	E	-	1	0	ZNF117	64076378	0.000000	0.05858	0.010000	0.14722	0.008000	0.06430	-2.842000	0.00737	-0.307000	0.08804	0.313000	0.20887	GAG	ZNF117	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152926		0.368	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3		0	96	0	C	NM_024498		64438943	-1			no_errors	ENST00000282869	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.133	G	G	64438943	C	G	64438943	3	3	89	1	0	0	0	0	1	0	0	0	17765	835	29	5	449	5	ZNF117	7	64438943	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	8298246	64438943	94699720	132	25498											
KCTD7	154881	genome.wustl.edu	37	chr7	66103973	66103973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgagtgtccgctcctcaaCtccctgcgatttgagcggag	7	11	11	12	3	1	2	1	2	0	0	4	4	4	3	3	1	3	1	3	1	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:66103973C>T	ENST00000275532.3	+	4	808	c.624C>T	c.(622-624)aaC>aaT	p.N208N	KCTD7_ENST00000443322.1_Silent_p.N208N	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	208					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CGCTCCTCAACTCCCTGCGAT	0.582																																																	0													121	107	112					7																	66103973		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"potassium channel tetramerisation domain containing 7"			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.624C>T	7.37:g.66103973C>T			A4D2M4|Q8IVR0	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.N208	ENST00000275532.3	37	c.624	CCDS5534.1	7																																																																																			KCTD7	-	NULL	ENSG00000243335		0.582	KCTD7-001	KNOWN	basic|CCDS	protein_coding	KCTD7	HGNC	protein_coding	OTTHUMT00000251733.2	-	0	48	0	C	NM_153033		66103973	1	tier1	-	no_errors	ENST00000275532	ensembl	human	known	74_37	silent	13.95	37	6	SNP	1.000	T	T	66103973	C	T	66103973	2	4	89	1	0	0	0	0	0	0	0	1	8141	564	20	3		3	KCTD7	7	66103973	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1665030	66103973	93034690	133	25499											
WBSCR28	135886	genome.wustl.edu	37	chr7	73279612	73279612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgcctgggagcagctggGcctgtctgtggccatctgga	5	9	16	11	0	2	0	0	0	2	0	2	2	2	2	3	4	3	2	3	4	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:73279612G>T	ENST00000320531.2	+	2	398	c.362G>T	c.(361-363)gGc>gTc	p.G121V		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	121						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GAGCAGCTGGGCCTGTCTGTG	0.612																																																	0													57	57	57					7																	73279612		2147	4247	6394	SO:0001583	missense	0			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.362G>T	7.37:g.73279612G>T	ENSP00000316775:p.Gly121Val		Q6UE04|Q8NHP4	Missense_Mutation	SNP	NULL	p.G121V	ENST00000320531.2	37	c.362	CCDS43597.1	7	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890844	0.52014	.	.	ENSG00000175877	ENST00000320531	T	0.36878	1.23	4.48	4.48	0.54585	.	0.000000	0.46758	D	0.000280	T	0.47266	0.1436	L	0.32530	0.975	0.22639	N	0.998908	D	0.76494	0.999	D	0.78314	0.991	T	0.32375	-0.9909	10	0.87932	D	0	-10.2027	12.5946	0.56461	0.0:0.0:1.0:0.0	.	121	Q6UE05	WBS28_HUMAN	V	121	ENSP00000316775:G121V	ENSP00000316775:G121V	G	+	2	0	WBSCR28	72917548	0.924000	0.31332	0.021000	0.16686	0.030000	0.12068	2.535000	0.45685	2.341000	0.79615	0.650000	0.86243	GGC	WBSCR28	-	NULL	ENSG00000175877		0.612	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR28	HGNC	protein_coding	OTTHUMT00000348130.1	-	0	51	0	G	NM_182504		73279612	1	tier1	-	no_errors	ENST00000320531	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.052	T	T	73279612	G	T	73279612	3	4	89	1	0	0	0	0	1	0	0	0	17316	1203	42	3	368	3	WBSCR28	7	73279612	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	7175639	73279612	85859051	134	25500											
LIMK1	3984	genome.wustl.edu	37	chr7	73521432	73521432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgctctgagtccctccGcgtagtctgccggccacacc	4	8	12	17	4	2	1	0	1	2	0	5	1	4	1	5	2	1	2	5	2	1	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:73521432G>A	ENST00000336180.2	+	8	1025	c.974G>A	c.(973-975)cGc>cAc	p.R325H	LIMK1_ENST00000538333.3_Missense_Mutation_p.R291H|LIMK1_ENST00000418310.1_Missense_Mutation_p.R355H	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	325					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GAGTCCCTCCGCGTAGTCTGC	0.692																																																	0													34	32	33					7																	73521432		2203	4299	6502	SO:0001583	missense	0			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.974G>A	7.37:g.73521432G>A	ENSP00000336740:p.Arg325His		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R325H	ENST00000336180.2	37	c.974	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532029	0.85812	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	T;T;T	0.76709	-1.02;-1.0;-1.04	5.19	5.19	0.71726	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	M	0.61703	1.905	0.80722	D	1	B;P;P	0.42039	0.41;0.651;0.769	B;B;B	0.31869	0.046;0.088;0.137	T	0.78861	-0.2037	10	0.72032	D	0.01	-16.5485	16.2751	0.82640	0.0:0.0:1.0:0.0	.	220;291;325	Q59FA3;B7Z6I8;P53667	.;.;LIMK1_HUMAN	H	355;325;325;291	ENSP00000409717:R355H;ENSP00000336740:R325H;ENSP00000444452:R291H	ENSP00000336740:R325H	R	+	2	0	LIMK1	73159368	1.000000	0.71417	0.969000	0.41365	0.955000	0.61496	9.396000	0.97270	2.439000	0.82584	0.650000	0.86243	CGC	LIMK1	-	superfamily_Kinase-like_dom	ENSG00000106683		0.692	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	-	0	115	0	G	NM_002314		73521432	1	tier1	-	no_errors	ENST00000336180	ensembl	human	known	74_37	missense	6.67	154	11	SNP	0.999	A	A	73521432	G	A	73521432	3	1	89	1	0	0	0	0	1	0	0	0	8830	1087	38	1	1004	1	LIMK1	7	73521432	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	241820	73521432	85617231	135	25501											
GNG11	2791	genome.wustl.edu	37	chr7	93551468	93551468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaatgcctgcccttcacatcGaagatttgccagagaaggaa	14	8	9	10	1	1	2	1	0	0	2	2	5	1	3	3	1	3	0	3	1	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:93551468G>C	ENST00000248564.5	+	1	458	c.19G>C	c.(19-21)Gaa>Caa	p.E7Q		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	7					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CCTTCACATCGAAGATTTGCC	0.537																																																	0													44	46	45					7																	93551468		2203	4300	6503	SO:0001583	missense	0				CCDS5634.1	7q31-q32	2008-07-18			ENSG00000127920	ENSG00000127920			4403	protein-coding gene	gene with protein product	"G protein gamma-11 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit"	604390				7665596	Standard	NM_004126		Approved	GNGT11	uc003und.3	P61952	OTTHUMG00000023411	ENST00000248564.5:c.19G>C	7.37:g.93551468G>C	ENSP00000248564:p.Glu7Gln		P50152	Missense_Mutation	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.E7Q	ENST00000248564.5	37	c.19	CCDS5634.1	7	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537477	0.27475	.	.	ENSG00000127920	ENST00000248564	T	0.29397	1.57	4.48	4.48	0.54585	G-protein gamma domain (3);	0.126323	0.56097	D	0.000032	T	0.24661	0.0598	.	.	.	0.43179	D	0.994998	B	0.20459	0.045	B	0.30943	0.122	T	0.05801	-1.0863	9	0.22109	T	0.4	-39.3909	12.8421	0.57809	0.0:0.0:1.0:0.0	.	7	P61952	GBG11_HUMAN	Q	7	ENSP00000248564:E7Q	ENSP00000248564:E7Q	E	+	1	0	GNG11	93389404	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.407000	0.66363	2.490000	0.84030	0.491000	0.48974	GAA	GNG11	-	superfamily_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom	ENSG00000127920		0.537	GNG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNG11	HGNC	protein_coding	OTTHUMT00000254719.3	-	0	134	0	G	NM_004126		93551468	1	tier1	rs141442326	no_errors	ENST00000248564	ensembl	human	known	74_37	missense	8.49	97	9	SNP	1.000	C	C	93551468	G	C	93551468	3	2	89	1	0	0	0	0	1	0	0	0	6550	1059	37	5	21	5	GNG11	7	93551468	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	20030036	93551468	65587195	136	25502											
TRRAP	8295	genome.wustl.edu	37	chr7	98529082	98529082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggagcagcttctgatgCggtgcgcaacgcctttaaaa	9	9	12	11	4	1	1	0	1	1	0	1	2	1	2	1	2	5	4	1	2	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:98529082C>T	ENST00000359863.4	+	26	3855	c.3646C>T	c.(3646-3648)Cgg>Tgg	p.R1216W	TRRAP_ENST00000446306.3_Missense_Mutation_p.R1215W|TRRAP_ENST00000355540.3_Missense_Mutation_p.R1216W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1216					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTCTGATGCGGTGCGCAAC	0.547																																																	0													52	46	48					7																	98529082		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3646C>T	7.37:g.98529082C>T	ENSP00000352925:p.Arg1216Trp		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1216W	ENST00000359863.4	37	c.3646	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923949	0.73213	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.66099	3.45;-0.19	6.06	3.67	0.42095	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	N	0.19112	0.55	0.58432	D	0.999999	D;B;D	0.69078	0.98;0.039;0.997	P;B;B	0.46975	0.533;0.007;0.409	T	0.57306	-0.7834	10	0.66056	D	0.02	.	14.9705	0.71229	0.4175:0.5825:0.0:0.0	.	1216;930;1216	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	W	1216;1216;1214	ENSP00000352925:R1216W;ENSP00000347733:R1216W	ENSP00000347733:R1216W	R	+	1	2	TRRAP	98367018	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.170000	0.42443	0.484000	0.27630	-0.271000	0.10264	CGG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.547	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	40	0	C	NM_003496		98529082	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	98529082	C	T	98529082	3	4	89	1	0	0	0	0	1	0	0	0	16649	759	27	1	3744	1	TRRAP	7	98529082	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	4977614	98529082	60609581	137	25503											
STAG3	10734	genome.wustl.edu	37	chr7	99799644	99799644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agagttgcctctcagatgtgGatactgagatccaggagcag	11	9	13	8	0	1	3	1	1	1	3	3	6	2	5	2	2	3	2	2	2	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:99799644G>C	ENST00000426455.1	+	23	2781	c.2374G>C	c.(2374-2376)Gat>Cat	p.D792H	STAG3_ENST00000394018.2_Missense_Mutation_p.D734H|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.D792H|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000436886.2_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	792					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGATGTGGATACTGAGAT	0.522																																																	0													101	93	95					7																	99799644		2203	4300	6503	SO:0001583	missense	0			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.2374G>C	7.37:g.99799644G>C	ENSP00000400359:p.Asp792His		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.D792H	ENST00000426455.1	37	c.2374	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	.	13.81	2.349145	0.41599	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000317296	T;T;T	0.35421	1.31;1.31;1.31	5.33	4.45	0.53987	Armadillo-like helical (1);Armadillo-type fold (1);	0.386750	0.21593	N	0.072061	T	0.47930	0.1472	L	0.56769	1.78	0.80722	D	1	B;D;P	0.71674	0.04;0.998;0.823	B;P;P	0.57244	0.045;0.816;0.566	T	0.44590	-0.9318	10	0.52906	T	0.07	-4.3353	10.1213	0.42623	0.0933:0.0:0.9067:0.0	.	734;792;792	B4DZ10;D6W5U7;Q9UJ98	.;.;STAG3_HUMAN	H	792;734;792	ENSP00000400359:D792H;ENSP00000377586:D734H;ENSP00000319318:D792H	ENSP00000319318:D792H	D	+	1	0	STAG3	99637580	0.989000	0.36119	0.989000	0.46669	0.872000	0.50106	2.456000	0.44997	1.254000	0.44035	0.467000	0.42956	GAT	STAG3	-	superfamily_ARM-type_fold	ENSG00000066923		0.522	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2		0	61	0	G	NM_012447		99799644	1			no_errors	ENST00000317296	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.980	C	C	99799644	G	C	99799644	3	2	89	1	0	0	0	0	1	0	0	0	15291	1174	41	5	2460	5	STAG3	7	99799644	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1270562	99799644	59339019	138	25504											
MUC17	140453	genome.wustl.edu	37	chr7	100678697	100678697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaacctcaacttatagtGaaggaagaactcctttaaca	15	10	6	10	0	1	2	1	1	0	1	2	3	2	3	3	1	5	0	3	1	8	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:100678697G>A	ENST00000306151.4	+	3	4064	c.4000G>A	c.(4000-4002)Gaa>Aaa	p.E1334K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1334	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTTATAGTGAAGGAAGAAC	0.458																																																	0													239	230	233					7																	100678697		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4000G>A	7.37:g.100678697G>A	ENSP00000302716:p.Glu1334Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.E1334K	ENST00000306151.4	37	c.4000	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	3.185	-0.166999	0.06461	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.613	0.613	0.17597	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.43988	-0.9357	8	0.09084	T	0.74	.	.	.	.	.	1334	Q685J3	MUC17_HUMAN	K	1334	ENSP00000302716:E1334K	ENSP00000302716:E1334K	E	+	1	0	MUC17	100465417	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.013000	0.12678	0.637000	0.30526	0.134000	0.15878	GAA	MUC17	-	NULL	ENSG00000169876		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	115	0	G	NM_001040105		100678697	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	7.45	86	7	SNP	0.023	A	A	100678697	G	A	100678697	3	1	89	1	0	0	0	0	1	0	0	0	10012	1291	45	3	4010	3	MUC17	7	100678697	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	879053	100678697	58459966	139	25505											
PLOD3	8985	genome.wustl.edu	37	chr7	100859262	100859262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttgtacttccactggCgcacgatttggtggatggtg	6	13	12	10	2	0	0	0	0	0	0	2	2	2	1	2	4	1	2	2	4	1	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:100859262C>T	ENST00000223127.3	-	5	940	c.542G>A	c.(541-543)cGc>cAc	p.R181H	ZNHIT1_ENST00000305105.2_5'Flank	NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	181					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTTCCACTGGCGCACGATTTG	0.612																																																	0													162	140	147					7																	100859262		2203	4300	6503	SO:0001583	missense	0			AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"lysyl hydroxlase 3"	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.542G>A	7.37:g.100859262C>T	ENSP00000223127:p.Arg181His		B2R6W6|Q540C3	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R181H	ENST00000223127.3	37	c.542	CCDS5715.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.40|12.40	1.926851|1.926851	0.34002|0.34002	.|.	.|.	ENSG00000106397|ENSG00000106397	ENST00000421736|ENST00000223127;ENST00000541462	.|T	.|0.18502	.|2.21	5.23|5.23	3.43|3.43	0.39272|0.39272	.|.	.|0.129739	.|0.53938	.|N	.|0.000053	T|T	0.12008|0.12008	0.0292|0.0292	L|L	0.29908|0.29908	0.895|0.895	0.23144|0.23144	N|N	0.998228|0.998228	.|B	.|0.11235	.|0.004	.|B	.|0.06405	.|0.002	T|T	0.20438|0.20438	-1.0275|-1.0275	5|10	.|0.54805	.|T	.|0.06	-11.2366|-11.2366	7.9577|7.9577	0.30053|0.30053	0.0:0.8112:0.0:0.1888|0.0:0.8112:0.0:0.1888	.|.	.|181	.|O60568	.|PLOD3_HUMAN	T|H	14|181;85	.|ENSP00000223127:R181H	.|ENSP00000223127:R181H	A|R	-|-	1|2	0|0	PLOD3|PLOD3	100645982|100645982	0.005000|0.005000	0.15991|0.15991	0.944000|0.944000	0.38274|0.38274	0.821000|0.821000	0.46438|0.46438	0.439000|0.439000	0.21575|0.21575	0.599000|0.599000	0.29845|0.29845	0.561000|0.561000	0.74099|0.74099	GCC|CGC	PLOD3	-	NULL	ENSG00000106397		0.612	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLOD3	HGNC	protein_coding	OTTHUMT00000347470.1	-	0	43	0	C			100859262	-1	tier1	-	no_errors	ENST00000223127	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.487	T	T	100859262	C	T	100859262	3	4	89	1	0	0	0	0	1	0	0	0	12142	768	27	1	1734	1	PLOD3	7	100859262	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	180565	100859262	58279401	140	25506											
ALKBH4	54784	genome.wustl.edu	37	chr7	102100206	102100206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagactcctctgtgcccaCggcccagccggtgtcggagc	5	7	13	16	3	2	1	1	0	1	1	4	2	3	2	4	3	3	0	4	3	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:102100206C>T	ENST00000292566.3	-	2	205	c.166G>A	c.(166-168)Gtg>Atg	p.V56M		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	56					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						TCTGTGCCCACGGCCCAGCCG	0.572																																																	0													70	68	69					7																	102100206		2203	4300	6503	SO:0001583	missense	0			BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"Alkylation repair homologs"	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.166G>A	7.37:g.102100206C>T	ENSP00000292566:p.Val56Met		Q53H92|Q9H6A4	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.V56M	ENST00000292566.3	37	c.166	CCDS5723.1	7	.	.	.	.	.	.	.	.	.	.	C	2.688	-0.273760	0.05679	.	.	ENSG00000160993	ENST00000292566	T	0.50813	0.73	3.99	2.01	0.26516	.	1.100810	0.07023	N	0.827073	T	0.22820	0.0551	N	0.12746	0.255	0.09310	N	1	P	0.35226	0.491	B	0.17098	0.017	T	0.12477	-1.0546	10	0.27082	T	0.32	-15.6802	4.9417	0.13969	0.1672:0.6407:0.0:0.1921	.	56	Q9NXW9	ALKB4_HUMAN	M	56	ENSP00000292566:V56M	ENSP00000292566:V56M	V	-	1	0	ALKBH4	101887211	0.019000	0.18553	0.536000	0.28039	0.046000	0.14306	0.872000	0.28037	0.858000	0.35431	0.561000	0.74099	GTG	ALKBH4	-	NULL	ENSG00000160993		0.572	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH4	HGNC	protein_coding	OTTHUMT00000349503.1	-	0	150	0	C	NM_017621		102100206	-1	tier1	-	no_errors	ENST00000292566	ensembl	human	known	74_37	missense	8.60	85	8	SNP	0.019	T	T	102100206	C	T	102100206	3	4	89	1	0	0	0	0	1	0	0	0	529	536	19	1	750	1	ALKBH4	7	102100206	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1240944	102100206	57038457	141	25507											
LAMB1	3912	genome.wustl.edu	37	chr7	107615724	107615724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttaaatcatagaagccttCtttgcaaacatcacaatgtt	14	13	5	9	0	3	1	2	0	1	1	3	1	3	1	1	0	3	3	1	0	6	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:107615724C>T	ENST00000222399.6	-	11	1554	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	LAMB1_ENST00000393561.1_Missense_Mutation_p.E466K|LAMB1_ENST00000393560.1_Missense_Mutation_p.E442K	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	442	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TAGAAGCCTTCTTTGCAAACA	0.373																																																	0													108	101	103					7																	107615724		2203	4299	6502	SO:0001583	missense	0			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"Laminins"	6486	protein-coding gene	gene with protein product		150240	"cutis laxa with marfanoid phenotype"	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1324G>A	7.37:g.107615724C>T	ENSP00000222399:p.Glu442Lys		Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E442K	ENST00000222399.6	37	c.1324	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124874	0.56613	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.61859	0.07;0.07;0.07	5.66	5.66	0.87406	EGF-like, laminin (4);	.	.	.	.	T	0.54078	0.1836	L	0.42581	1.335	0.48185	D	0.999605	B;B;B	0.26876	0.036;0.082;0.162	B;B;B	0.30572	0.026;0.117;0.023	T	0.46624	-0.9178	9	0.21014	T	0.42	.	19.7538	0.96281	0.0:1.0:0.0:0.0	.	442;442;466	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	K	466;442;442	ENSP00000377191:E466K;ENSP00000222399:E442K;ENSP00000377190:E442K	ENSP00000222399:E442K	E	-	1	0	LAMB1	107402960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.646000	0.46630	2.690000	0.91761	0.655000	0.94253	GAA	LAMB1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000091136		0.373	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	-	0	68	0	C	NM_002291		107615724	-1	tier1	-	no_errors	ENST00000222399	ensembl	human	known	74_37	missense	13.46	45	7	SNP	1.000	T	T	107615724	C	T	107615724	3	4	89	1	0	0	0	0	1	0	0	0	8638	922	32	3	4132	3	LAMB1	7	107615724	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5515518	107615724	51522939	142	25508											
RNF148	378925	genome.wustl.edu	37	chr7	122342265	122342265	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acccactgcatgtgcattctCcccacttcaatgatgactgt	9	12	6	14	0	2	2	1	2	1	0	3	2	2	2	3	0	2	2	3	0	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:122342265C>G	ENST00000434824.1	-	1	756	c.540G>C	c.(538-540)ggG>ggC	p.G180G	CADPS2_ENST00000313070.7_Intron|RNF148_ENST00000447240.1_Silent_p.G82G|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	180						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TGTGCATTCTCCCCACTTCAA	0.433																																																	0													238	239	239					7																	122342265		2086	4215	6301	SO:0001819	synonymous_variant	0			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.540G>C	7.37:g.122342265C>G			A4D0X4|Q8N308	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G180	ENST00000434824.1	37	c.540	CCDS47692.1	7																																																																																			RNF148	-	NULL	ENSG00000235631		0.433	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	-	0	56	0	C	NM_198085		122342265	-1	tier1	-	no_errors	ENST00000434824	ensembl	human	known	74_37	silent	10.00	44	5	SNP	0.853	G	G	122342265	C	G	122342265	2	3	89	1	0	0	0	0	0	0	0	1	13494	842	30	5		5	RNF148	7	122342265	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	14726541	122342265	36796398	143	25509											
HIPK2	28996	genome.wustl.edu	37	chr7	139416675	139416675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggggatgttcttgctCtggctatacactttgctgtg	6	14	13	8	0	2	0	0	0	2	0	2	2	2	1	0	3	3	4	0	3	2	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:139416675C>G	ENST00000406875.3	-	2	253	c.159G>C	c.(157-159)caG>caC	p.Q53H	HIPK2_ENST00000342645.6_Missense_Mutation_p.Q53H|HIPK2_ENST00000428878.2_Missense_Mutation_p.Q53H	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	53					adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGTTCTTGCTCTGGCTATACA	0.537																																																	0													92	95	94					7																	139416675		1568	3582	5150	SO:0001583	missense	0			AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"homeodomain-interacting protein kinase 2"			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.159G>C	7.37:g.139416675C>G	ENSP00000385571:p.Gln53His		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q53H	ENST00000406875.3	37	c.159		7	.	.	.	.	.	.	.	.	.	.	C	7.064	0.566989	0.13560	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.51071	0.72;0.74;0.74	5.51	4.63	0.57726	.	.	.	.	.	T	0.30417	0.0764	.	.	.	0.41251	D	0.986711	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.13335	-1.0513	8	0.06891	T	0.86	.	16.3893	0.83528	0.0:0.8681:0.1318:0.0	.	53;53	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	H	53	ENSP00000385571:Q53H;ENSP00000413724:Q53H;ENSP00000343108:Q53H	ENSP00000343108:Q53H	Q	-	3	2	HIPK2	139063161	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.227000	0.51262	1.308000	0.44962	0.655000	0.94253	CAG	HIPK2	-	NULL	ENSG00000064393		0.537	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	HGNC	protein_coding	OTTHUMT00000349430.3	-	0	124	0	C	NM_022740		139416675	-1	tier1	-	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	6.67	84	6	SNP	1.000	G	G	139416675	C	G	139416675	3	3	89	1	0	0	0	0	1	0	0	0	7144	912	32	5	3493	5	HIPK2	7	139416675	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	17074410	139416675	19721988	144	25510											
KEL	3792	genome.wustl.edu	37	chr7	142640001	142640001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaacgtctgcagcattCtctaagaatgtgagggagtc	10	9	10	12	1	2	2	0	1	2	1	4	3	2	3	2	1	3	2	2	1	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:142640001C>A	ENST00000355265.2	-	17	2376	c.1902G>T	c.(1900-1902)gaG>gaT	p.E634D		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	634					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E634D(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTGCAGCATTCTCTAAGAATG	0.517																																																	1	Substitution - Missense(1)	lung(1)											104	94	97					7																	142640001		2203	4300	6503	SO:0001583	missense	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"CD molecules", "Blood group antigens"	6308	protein-coding gene	gene with protein product		613883	"Kell blood group", "Kell blood group, metalloendopeptidase"			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1902G>T	7.37:g.142640001C>A	ENSP00000347409:p.Glu634Asp		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E634D	ENST00000355265.2	37	c.1902	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	C	12.45	1.940608	0.34283	.	.	ENSG00000197993	ENST00000355265	D	0.91945	-2.94	4.6	1.8	0.24995	Peptidase M13, neprilysin, C-terminal (2);	0.118992	0.37261	N	0.002178	D	0.94528	0.8238	M	0.86178	2.8	0.45621	D	0.998552	D	0.76494	0.999	D	0.64237	0.923	D	0.92194	0.5762	10	0.87932	D	0	-10.3722	5.8137	0.18479	0.0:0.6583:0.0:0.3417	.	634	P23276	KELL_HUMAN	D	634	ENSP00000347409:E634D	ENSP00000347409:E634D	E	-	3	2	KEL	142350123	0.994000	0.37717	0.132000	0.22025	0.016000	0.09150	0.360000	0.20250	0.181000	0.19994	0.650000	0.86243	GAG	KEL	-	pfam_Peptidase_M13_C,prints_Peptidase_M13_C	ENSG00000197993		0.517	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	HGNC	protein_coding	OTTHUMT00000347671.2		0	47	0	C	NM_000420		142640001	-1			no_errors	ENST00000355265	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.898	A	A	142640001	C	A	142640001	3	1	89	1	0	0	0	0	1	0	0	0	8169	912	32	3	308	3	KEL	7	142640001	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3223326	142640001	16498662	145	25511											
SSPO	23145	genome.wustl.edu	37	chr7	149522965	149522965	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccgctgtggcctcccCagtgccaatgcctcttggga	4	11	11	15	1	2	0	0	0	2	0	3	1	3	1	6	2	3	1	6	2	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr7:149522965C>T	ENST00000378016.2	+	0	14187							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGCCTCCCCAGTGCCAATG	0.672																																																	0													23	26	25					7																	149522965		2000	4163	6163			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522965C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.672	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	35	0	C			149522965	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	19.35	25	6	SNP	0.981	T	T	149522965	C	T	149522965	1	4	89	0	1	0	0	0	0	0	0	0	15236	581	21	3		3	SSPO	7	149522965	RNA	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	6882964	149522965	9615698	146	25512											
CLN8	2055	genome.wustl.edu	37	chr8	1728586	1728586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactgttccttgtcggactGgctctgcttacgctaatcat	7	14	8	12	2	2	0	1	0	1	0	4	1	3	1	1	2	2	4	1	2	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:1728586G>T	ENST00000331222.4	+	3	961	c.714G>T	c.(712-714)ctG>ctT	p.L238L	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	238	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TTGTCGGACTGGCTCTGCTTA	0.512																																					Pancreas(155;338 1942 6138 10888 50612)												0													218	156	177					8																	1728586		2203	4300	6503	SO:0001819	synonymous_variant	0			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"chromosome 8 open reading frame 61"	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.714G>T	8.37:g.1728586G>T			Q86U71|Q96I95	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.L238	ENST00000331222.4	37	c.714	CCDS5956.1	8																																																																																			CLN8	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000182372		0.512	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN8	HGNC	protein_coding	OTTHUMT00000206715.2	-	0	67	0	G	NM_018941		1728586	1	tier1	-	no_errors	ENST00000331222	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.423	T	T	1728586	G	T	1728586	2	4	89	1	0	0	0	0	0	0	0	1	3553	1335	47	3		3	CLN8	8	1728586	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		1728586	144635436	147	25513											
SGK223	157285	genome.wustl.edu	37	chr8	8239172	8239172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagaagcagttcttgcagGacccgggtttccagatgtgc	8	9	14	10	1	1	2	0	0	1	2	2	3	2	3	2	3	3	5	2	3	1	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:8239172G>A	ENST00000520004.1	-	2	350	c.86C>T	c.(85-87)tCc>tTc	p.S29F	SGK223_ENST00000330777.4_Missense_Mutation_p.S29F			Q86YV5	SG223_HUMAN		29							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GTTCTTGCAGGACCCGGGTTT	0.662																																					GBM(34;731 755 10259 33573 33867)												0													36	37	37					8																	8239172		2009	4156	6165	SO:0001583	missense	0																														ENST00000520004.1:c.86C>T	8.37:g.8239172G>A	ENSP00000428054:p.Ser29Phe		Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.S29F	ENST00000520004.1	37	c.86	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621814	0.87460	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.61627	0.09;0.09	4.83	4.83	0.62350	.	0.096565	0.41097	D	0.000942	T	0.72374	0.3452	L	0.53249	1.67	0.52501	D	0.99995	D	0.71674	0.998	D	0.79784	0.993	T	0.75599	-0.3262	10	0.87932	D	0	.	17.356	0.87336	0.0:0.0:1.0:0.0	.	29	Q86YV5	SG223_HUMAN	F	29	ENSP00000330930:S29F;ENSP00000428054:S29F	ENSP00000330930:S29F	S	-	2	0	AC068353.1	8276582	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.434000	0.97515	2.406000	0.81754	0.558000	0.71614	TCC	SGK223	-	NULL	ENSG00000182319		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1	-	0	82	0	G			8239172	-1	tier1	-	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	33.09	91	45	SNP	1.000	A	A	8239172	G	A	8239172	3	1	89	1	0	0	0	0	1	0	0	0	14255	1174	41	3	4142	3	SGK223	8	8239172	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	6510586	8239172	138124850	148	25514											
FAM86B2	653333	genome.wustl.edu	37	chr8	12283440	12283440	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctccaagtgctctccAtagggaaacagtttctggtc	9	11	9	12	0	3	0	0	0	3	0	6	1	3	1	3	2	2	2	3	2	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:12283440A>G	ENST00000262365.4	-	8	950	c.951T>C	c.(949-951)taT>taC	p.Y317Y	FAM86B2_ENST00000351291.4_Silent_p.Y283Y|FAM86B2_ENST00000393715.3_3'UTR|AC087203.1_ENST00000580058.1_RNA|FAM86B2_ENST00000309608.5_3'UTR	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	317										endometrium(1)|kidney(2)	3						AGTGCTCTCCATAGGGAAACA	0.502																																																	0																																										SO:0001819	synonymous_variant	0				CCDS59092.1	8p23.1	2011-07-01			ENSG00000145002	ENSG00000145002			32222	protein-coding gene	gene with protein product							Standard	NM_001137610		Approved		uc003wvt.4	P0C5J1	OTTHUMG00000165462	ENST00000262365.4:c.951T>C	8.37:g.12283440A>G				Silent	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.Y317	ENST00000262365.4	37	c.951	CCDS59092.1	8																																																																																			FAM86B2	-	NULL	ENSG00000145002		0.502	FAM86B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM86B2	HGNC	protein_coding		-	0	13	0	A	XM_928336		12283440	-1	tier1	-	no_errors	ENST00000262365	ensembl	human	known	74_37	silent	33.33	6	3	SNP	0.108	G	G	12283440	A	G	12283440	2	3	89	1	0	0	0	0	0	0	0	1	5667	224	8	4		4	FAM86B2	8	12283440	Silent	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	4044268	12283440	134080582	149	25515											
MSR1	4481	genome.wustl.edu	37	chr8	15998556	15998556	+	Intron	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgagttgtactggtccTgacacatatataaaggagga	13	11	11	6	0	1	2	1	2	0	0	2	4	2	4	1	3	1	2	1	3	5	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:15998556T>G	ENST00000262101.5	-	8	1155				MSR1_ENST00000445506.2_Intron|MSR1_ENST00000381998.4_Splice_Site|MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000536385.1_Splice_Site			P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTACTGGTCCTGACACATATA	0.363																																																	0													86	86	86					8																	15998556		2203	4300	6503	SO:0001627	intron_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1033+2510A>C	8.37:g.15998556T>G			D3DSP3|O60505|P21759|Q45F10	Splice_Site	SNP	-	e8-2	ENST00000262101.5	37	c.1034-2	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	T	9.648	1.140889	0.21205	.	.	ENSG00000038945	ENST00000381998;ENST00000536385	.	.	.	3.8	2.61	0.31194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6333	0.22869	0.2105:0.0:0.0:0.7895	.	.	.	.	.	-1	.	.	.	-	.	.	MSR1	16042927	1.000000	0.71417	0.917000	0.36280	0.435000	0.31806	1.560000	0.36331	0.777000	0.33496	0.528000	0.53228	.	MSR1	-	-	ENSG00000038945		0.363	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2		0	72	0	T			15998556	-1			no_errors	ENST00000381998	ensembl	human	known	74_37	splice_site	12.20	36	5	SNP	0.948	G	G	15998556	T	G	15998556	1	3	89	0	1	0	0	0	0	0	0	0	9924	1594	55	4		4	MSR1	8	15998556	Intron	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	3715116	15998556	130365466	150	25516											
FGF17	8822	genome.wustl.edu	37	chr8	21905658	21905658	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctctaccaaggccagctGcccttccccaaccacgccga	8	5	7	21	3	1	0	0	0	1	0	2	1	2	0	8	1	4	1	8	1	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:21905658G>T	ENST00000359441.3	+	5	1052	c.549G>T	c.(547-549)ctG>ctT	p.L183L	FGF17_ENST00000518533.1_Silent_p.L172L|FGF17_ENST00000521709.1_3'UTR	NM_003867.2	NP_003858.1	O60258	FGF17_HUMAN	fibroblast growth factor 17	183					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AAGGCCAGCTGCCCTTCCCCA	0.701																																																	0													27	28	28					8																	21905658		2203	4300	6503	SO:0001819	synonymous_variant	0			AB009249	CCDS6019.1	8p21.3	2005-10-30			ENSG00000158815	ENSG00000158815			3673	protein-coding gene	gene with protein product		603725				9514906, 9751161	Standard	XM_005273675		Approved	FGF-13	uc003xag.3	O60258	OTTHUMG00000097051	ENST00000359441.3:c.549G>T	8.37:g.21905658G>T			B7ZLG4|Q2M2W1	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.L183	ENST00000359441.3	37	c.549	CCDS6019.1	8																																																																																			FGF17	-	NULL	ENSG00000158815		0.701	FGF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF17	HGNC	protein_coding	OTTHUMT00000214154.2		0	25	0	G	NM_003867		21905658	1			no_errors	ENST00000359441	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.999	T	T	21905658	G	T	21905658	2	4	89	1	0	0	0	0	0	0	0	1	5867	1306	46	3		3	FGF17	8	21905658	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5907102	21905658	124458364	151	25517											
C8orf80	389643	genome.wustl.edu	37	chr8	27925049	27925049	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttccgccttgagggtGatgactctggaggtggggat	6	11	15	9	1	2	3	0	3	2	0	3	5	3	5	3	5	0	0	3	5	0	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:27925049G>T	ENST00000413272.2	-	6	835	c.693C>A	c.(691-693)atC>atA	p.I231I	NUGGC_ENST00000341513.6_Silent_p.I231I	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	231					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CCTTGAGGGTGATGACTCTGG	0.478																																																	0													65	65	65					8																	27925049		1984	4162	6146	SO:0001819	synonymous_variant	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.693C>A	8.37:g.27925049G>T			Q6ZP73	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.I231	ENST00000413272.2	37	c.693	CCDS47833.1	8																																																																																			NUGGC	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000189233		0.478	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	-	0	107	0	G	NM_001010906		27925049	-1	tier1	-	no_errors	ENST00000341513	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	27925049	G	T	27925049	2	4	89	1	0	0	0	0	0	0	0	1	2446	1280	45	3		3	C8orf80	8	27925049	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	6019391	27925049	118438973	152	25518											
ZNF395	55893	genome.wustl.edu	37	chr8	28210186	28210186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtacatcaccttcacaGagttctacaggaaaggaaga	15	9	8	9	0	3	2	2	0	1	2	3	4	3	4	1	2	2	2	1	2	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:28210186G>T	ENST00000344423.5	-	6	955	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	ZNF395_ENST00000523095.1_Missense_Mutation_p.S275Y|ZNF395_ENST00000523202.1_Missense_Mutation_p.S275Y	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S275F(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CACCTTCACAGAGTTCTACAG	0.527																																																	1	Substitution - Missense(1)	lung(1)											141	120	127					8																	28210186		2203	4300	6503	SO:0001583	missense	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"Zinc fingers, C2H2-type"	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.824C>A	8.37:g.28210186G>T	ENSP00000340494:p.Ser275Tyr		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.S275Y	ENST00000344423.5	37	c.824	CCDS6067.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319857	0.81469	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.63580	-0.05;-0.05;-0.05	5.27	5.27	0.74061	.	0.056860	0.64402	D	0.000001	T	0.80341	0.4605	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82950	-0.0203	10	0.72032	D	0.01	-21.5064	16.4092	0.83701	0.0:0.0:1.0:0.0	.	275	Q9H8N7	ZN395_HUMAN	Y	275	ENSP00000340494:S275Y;ENSP00000429640:S275Y;ENSP00000428452:S275Y	ENSP00000340494:S275Y	S	-	2	0	ZNF395	28266105	1.000000	0.71417	0.952000	0.39060	0.744000	0.42396	9.593000	0.98250	2.466000	0.83321	0.561000	0.74099	TCT	ZNF395	-	NULL	ENSG00000186918		0.527	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1		0	79	0	G			28210186	-1			no_errors	ENST00000344423	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	28210186	G	T	28210186	3	4	89	1	0	0	0	0	1	0	0	0	17929	942	33	3	737	3	ZNF395	8	28210186	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	285137	28210186	118153836	153	25519											
PURG	29942	genome.wustl.edu	37	chr8	30890189	30890189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgcgtagtgggggtagtggGagtgctgggcctggggatag	5	8	22	6	2	0	0	0	0	0	0	0	2	0	2	2	6	1	3	2	6	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:30890189G>T	ENST00000475541.1	-	1	1042	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	PURG_ENST00000339382.2_Missense_Mutation_p.S37Y|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	37						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGGGTAGTGGGAGTGCTGGGC	0.662																																																	0													19	22	21					8																	30890189		2203	4300	6503	SO:0001583	missense	0			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.110C>A	8.37:g.30890189G>T	ENSP00000418721:p.Ser37Tyr		Q8TE64	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.S37Y	ENST00000475541.1	37	c.110	CCDS6081.1	8	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920481	0.33908	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.25912	1.77;1.78	4.68	4.68	0.58851	.	0.588808	0.14226	N	0.333070	T	0.13884	0.0336	N	0.08118	0	0.26996	N	0.965025	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10497	-1.0627	10	0.36615	T	0.2	.	10.5929	0.45321	0.0:0.0:0.7534:0.2466	.	37;37	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	Y	37	ENSP00000345168:S37Y;ENSP00000418721:S37Y	ENSP00000345168:S37Y	S	-	2	0	PURG	31009731	0.998000	0.40836	1.000000	0.80357	0.915000	0.54546	1.442000	0.35046	2.138000	0.66242	0.313000	0.20887	TCC	PURG	-	NULL	ENSG00000172733		0.662	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	-	0	41	0	G	NM_013357		30890189	-1	tier1	-	no_errors	ENST00000475541	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	30890189	G	T	30890189	3	4	89	1	0	0	0	0	1	0	0	0	12874	1174	41	3	1046	3	PURG	8	30890189	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2680003	30890189	115473833	154	25520											
IKBKB	3551	genome.wustl.edu	37	chr8	42188469	42188469	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacagacggaagaagaagAgcacagctgcctggagcagg	14	4	15	8	1	0	4	0	0	0	4	0	6	0	6	1	3	5	4	1	3	4	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:42188469A>T	ENST00000520810.1	+	22	2429	c.2243A>T	c.(2242-2244)gAg>gTg	p.E748V	IKBKB_ENST00000379708.3_Missense_Mutation_p.E525V|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.E746V|IKBKB_ENST00000416505.2_Missense_Mutation_p.E689V	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	748					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GAAGAAGAAGAGCACAGCTGC	0.547																																																	0													99	95	96					8																	42188469		2203	4300	6503	SO:0001583	missense	0			AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.2243A>T	8.37:g.42188469A>T	ENSP00000430684:p.Glu748Val		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E748V	ENST00000520810.1	37	c.2243	CCDS6128.1	8	.	.	.	.	.	.	.	.	.	.	A	11.18	1.562705	0.27915	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.76709	-0.95;-1.04;-0.85;2.75	5.31	5.31	0.75309	.	0.250078	0.41396	D	0.000885	D	0.85392	0.5686	M	0.63428	1.95	0.25382	N	0.988607	D;P;D;P	0.76494	0.998;0.911;0.999;0.839	D;P;D;B	0.78314	0.987;0.555;0.991;0.329	T	0.78954	-0.2000	10	0.72032	D	0.01	.	12.6125	0.56558	1.0:0.0:0.0:0.0	.	689;746;525;748	B4E0U4;O14920-2;B3KRB7;O14920	.;.;.;IKKB_HUMAN	V	748;689;746;525	ENSP00000430684:E748V;ENSP00000404920:E689V;ENSP00000430868:E746V;ENSP00000369030:E525V	ENSP00000369030:E525V	E	+	2	0	IKBKB	42307626	0.986000	0.35501	0.101000	0.21167	0.021000	0.10359	4.894000	0.63206	2.011000	0.59026	0.482000	0.46254	GAG	IKBKB	-	NULL	ENSG00000104365		0.547	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKB	HGNC	protein_coding	OTTHUMT00000377214.1	-	0	86	0	A			42188469	1	tier1	-	no_errors	ENST00000520810	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.356	T	T	42188469	A	T	42188469	3	4	89	1	0	0	0	0	1	0	0	0	7638	304	11	5	2325	5	IKBKB	8	42188469	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	11298280	42188469	104175553	155	25521											
TTPA	7274	genome.wustl.edu	37	chr8	63985593	63985593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatacttctagggtgtaGatctgcacttatttctggac	11	15	8	7	0	3	1	0	0	3	1	3	2	3	2	0	2	2	2	0	2	6	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:63985593G>T	ENST00000260116.4	-	2	290	c.259C>A	c.(259-261)Cta>Ata	p.L87I	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	87					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CTAGGGTGTAGATCTGCACTT	0.383																																																	0													117	118	118					8																	63985593		2203	4300	6503	SO:0001583	missense	0			BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"ataxia (Friedreich-like) with vitamin E deficiency"	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.259C>A	8.37:g.63985593G>T	ENSP00000260116:p.Leu87Ile		Q71V64	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.L87I	ENST00000260116.4	37	c.259	CCDS6178.1	8	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636610	0.87760	.	.	ENSG00000137561	ENST00000260116	D	0.89415	-2.51	5.8	5.8	0.92144	Cellular retinaldehyde-binding/triple function, C-terminal (1);Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91222	0.7234	M	0.63208	1.945	0.49915	D	0.999831	P	0.37141	0.584	P	0.51079	0.658	D	0.90768	0.4670	10	0.62326	D	0.03	.	11.0492	0.47876	0.1114:0.0:0.8886:0.0	.	87	P49638	TTPA_HUMAN	I	87	ENSP00000260116:L87I	ENSP00000260116:L87I	L	-	1	2	TTPA	64148147	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.744000	0.62118	2.736000	0.93811	0.643000	0.83706	CTA	TTPA	-	superfamily_CRAL/TRIO_N_dom	ENSG00000137561		0.383	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPA	HGNC	protein_coding	OTTHUMT00000378460.1	-	0	38	0	G	NM_000370		63985593	-1	tier1	-	no_errors	ENST00000260116	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	T	T	63985593	G	T	63985593	3	4	89	1	0	0	0	0	1	0	0	0	16785	933	33	3	593	3	TTPA	8	63985593	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	21797124	63985593	82378429	156	25522											
C8orf46	254778	genome.wustl.edu	37	chr8	67425869	67425869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagggagctgttctgatgaGagggtaagtgctgcgtctct	8	11	16	6	1	2	2	0	2	2	1	3	5	2	3	0	2	3	4	0	2	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:67425869G>C	ENST00000305454.3	+	5	878	c.437G>C	c.(436-438)aGa>aCa	p.R146T	C8orf46_ENST00000521495.1_Intron|C8orf46_ENST00000480005.1_Missense_Mutation_p.R146T|C8orf46_ENST00000522977.1_Missense_Mutation_p.E125D	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	146										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GTTCTGATGAGAGGGTAAGTG	0.597																																																	0													97	82	87					8																	67425869		2203	4300	6503	SO:0001583	missense	0			BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.437G>C	8.37:g.67425869G>C	ENSP00000302260:p.Arg146Thr		B2RDC3|B4DFU4|C9J814|C9JCS3	Missense_Mutation	SNP	NULL	p.R146T	ENST00000305454.3	37	c.437	CCDS6191.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.48|16.48	3.134362|3.134362	0.56828|0.56828	.|.	.|.	ENSG00000169085|ENSG00000169085	ENST00000522977|ENST00000305454;ENST00000480005	.|.	.|.	.|.	4.31|4.31	3.39|3.39	0.38822|0.38822	.|.	.|0.435519	.|0.24240	.|N	.|0.040261	T|T	0.25791|0.25791	0.0628|0.0628	N|N	0.19112|0.19112	0.55|0.55	0.32970|0.32970	D|D	0.522255|0.522255	B|P	0.31817|0.40731	0.341|0.728	B|B	0.30646|0.41764	0.118|0.366	T|T	0.25779|0.25779	-1.0122|-1.0122	7|8	.|.	.|.	.|.	-3.6318|-3.6318	5.3918|5.3918	0.16247|0.16247	0.169:0.0:0.831:0.0|0.169:0.0:0.831:0.0	.|.	125|146	Q8TAG6-2|Q8TAG6	.|CH046_HUMAN	D|T	125|146	.|.	.|.	E|R	+|+	3|2	2|0	C8orf46|C8orf46	67588423|67588423	0.989000|0.989000	0.36119|0.36119	0.875000|0.875000	0.34327|0.34327	0.840000|0.840000	0.47671|0.47671	1.531000|1.531000	0.36018|0.36018	1.319000|1.319000	0.45190|0.45190	0.462000|0.462000	0.41574|0.41574	GAG|AGA	C8orf46	-	NULL	ENSG00000169085		0.597	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf46	HGNC	protein_coding	OTTHUMT00000347010.1	-	0	56	0	G	NM_152765		67425869	1	tier1	-	no_errors	ENST00000305454	ensembl	human	known	74_37	missense	31.51	50	23	SNP	0.919	C	C	67425869	G	C	67425869	3	2	89	1	0	0	0	0	1	0	0	0	2438	942	33	5	455	5	C8orf46	8	67425869	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3440276	67425869	78938153	157	25523											
CNGB3	54714	genome.wustl.edu	37	chr8	87588200	87588200	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggacttgctgtacattcAggtctgtccagtggcttctc	7	14	10	10	0	3	0	1	0	2	0	5	1	4	1	1	3	2	3	1	3	2	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:87588200A>C	ENST00000320005.5	-	18	2309	c.2262T>G	c.(2260-2262)ccT>ccG	p.P754P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	754					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGTACATTCAGGTCTGTCCA	0.393																																																	0													244	244	244					8																	87588200		2203	4300	6503	SO:0001819	synonymous_variant	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2153	protein-coding gene	gene with protein product		605080	"achromatopsia (rod monochromacy) 3", "achromatopsia (rod monochromacy) 1"	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2262T>G	8.37:g.87588200A>C			C9JA51|Q9NRE9	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P754	ENST00000320005.5	37	c.2262	CCDS6244.1	8																																																																																			CNGB3	-	NULL	ENSG00000170289		0.393	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	-	0	118	0	A	NM_019098		87588200	-1	tier1	-	no_errors	ENST00000320005	ensembl	human	known	74_37	silent	7.80	130	11	SNP	0.000	C	C	87588200	A	C	87588200	2	2	89	1	0	0	0	0	0	0	0	1	3608	175	7	4		4	CNGB3	8	87588200	Silent	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	20162331	87588200	58775822	158	25524											
RIMS2	9699	genome.wustl.edu	37	chr8	104898096	104898096	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctcagggaccaagttcTtatgcacaaaggaccacaaa	15	6	10	10	0	2	0	1	0	1	0	2	3	2	2	2	3	1	3	2	3	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:104898096T>C	ENST00000436393.2	+	2	844	c.603T>C	c.(601-603)tcT>tcC	p.S201S	RIMS2_ENST00000507740.1_Silent_p.S231S|RIMS2_ENST00000406091.3_Silent_p.S423S|RIMS2_ENST00000262231.10_Silent_p.S231S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	454					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.S231S(3)|p.S459S(2)|p.S201S(2)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCAAGTTCTTATGCACAAA	0.478										HNSCC(12;0.0054)																																							7	Substitution - coding silent(7)	large_intestine(7)											85	80	81					8																	104898096		1935	4137	6072	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.603T>C	8.37:g.104898096T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.S423	ENST00000436393.2	37	c.1269		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.478	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	32	0	T	NM_001100117		104898096	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	34.62	17	9	SNP	0.998	C	C	104898096	T	C	104898096	2	2	89	1	0	0	0	0	0	0	0	1	13413	1596	56	4		4	RIMS2	8	104898096	Silent	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	17309896	104898096	41465926	159	25525											
LRP12	29967	genome.wustl.edu	37	chr8	105503409	105503409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgaggaacttgcacatGctcctactgtcgcttctact	8	13	9	11	1	1	1	0	1	1	0	3	3	2	2	1	1	5	4	1	1	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:105503409G>T	ENST00000276654.5	-	7	2180	c.2072C>A	c.(2071-2073)gCa>gAa	p.A691E	LRP12_ENST00000424843.2_Missense_Mutation_p.A672E|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	691					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACTTGCACATGCTCCTACTGT	0.522																																																	0													97	84	88					8																	105503409		2203	4300	6503	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"Low density lipoprotein receptors"	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2072C>A	8.37:g.105503409G>T	ENSP00000276654:p.Ala691Glu		A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.A672E	ENST00000276654.5	37	c.2015	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724108	0.30593	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	D;D	0.83992	-1.79;-1.73	5.49	5.49	0.81192	.	0.265106	0.43919	D	0.000517	T	0.72938	0.3523	N	0.19112	0.55	0.39485	D	0.967955	B;B	0.14012	0.009;0.005	B;B	0.21360	0.034;0.015	T	0.68629	-0.5358	10	0.38643	T	0.18	-13.3034	13.9926	0.64376	0.0725:0.0:0.9275:0.0	.	672;691	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	E	672;691;56	ENSP00000399148:A672E;ENSP00000276654:A691E	ENSP00000276654:A691E	A	-	2	0	LRP12	105572585	0.622000	0.27085	0.806000	0.32338	0.712000	0.41017	3.177000	0.50871	2.744000	0.94065	0.650000	0.86243	GCA	LRP12	-	NULL	ENSG00000147650		0.522	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	-	0	38	0	G	NM_013437		105503409	-1	tier1	-	no_errors	ENST00000424843	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.834	T	T	105503409	G	T	105503409	3	4	89	1	0	0	0	0	1	0	0	0	8989	1319	46	3	511	3	LRP12	8	105503409	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	605313	105503409	40860613	160	25526											
ASAP1	50807	genome.wustl.edu	37	chr8	131199511	131199511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatctttccaggctttGtcaaatggcttcttgagatc	9	16	7	9	0	4	1	2	1	2	1	6	2	5	1	1	2	0	2	1	2	2	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr8:131199511G>T	ENST00000518721.1	-	7	728	c.501C>A	c.(499-501)gaC>gaA	p.D167E	ASAP1_ENST00000357668.1_Missense_Mutation_p.D167E	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	167					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCCAGGCTTTGTCAAATGGCT	0.279																																																	0													75	77	76					8																	131199511		2203	4300	6503	SO:0001583	missense	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2720	protein-coding gene	gene with protein product	"centaurin, beta 4"	605953	"development and differentiation enhancing factor 1"	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.501C>A	8.37:g.131199511G>T	ENSP00000429900:p.Asp167Glu		B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.D167E	ENST00000518721.1	37	c.501	CCDS6362.1	8	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342303	0.41498	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	T;T;T	0.04119	3.7;3.7;3.7	5.23	4.35	0.52113	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.03348	0.0097	N	0.17474	0.49	0.80722	D	1	B;B	0.33212	0.402;0.402	B;B	0.23574	0.047;0.047	T	0.56056	-0.8042	10	0.32370	T	0.25	.	13.173	0.59611	0.0779:0.0:0.9221:0.0	.	167;167	B2RNV3;Q9ULH1	.;ASAP1_HUMAN	E	167;167;167;137	ENSP00000350297:D167E;ENSP00000429900:D167E;ENSP00000430588:D137E	ENSP00000344591:D167E	D	-	3	2	ASAP1	131268693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.861000	0.87004	1.172000	0.42781	0.650000	0.86243	GAC	ASAP1	-	NULL	ENSG00000153317		0.279	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	-	0	85	0	G	NM_018482		131199511	-1	tier1	-	no_errors	ENST00000357668	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	131199511	G	T	131199511	3	4	89	1	0	0	0	0	1	0	0	0	1011	1368	48	3	2984	3	ASAP1	8	131199511	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	25696102	131199511	15164511	161	25527											
MTAP	4507	genome.wustl.edu	37	chr9	21837923	21837923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaggaccactatgagacctCagtccttctatgatggaagt	11	11	10	9	0	2	2	1	2	1	1	3	5	3	4	3	2	0	1	3	2	4	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:21837923C>G	ENST00000460874.2	+	5	640	c.415C>G	c.(415-417)Cag>Gag	p.Q139E	MTAP_ENST00000580900.1_Missense_Mutation_p.Q122E|MTAP_ENST00000427788.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000380172.4_Missense_Mutation_p.Q122E					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		TATGAGACCTCAGTCCTTCTA	0.433																																																	2	Whole gene deletion(2)	lung(2)											246	248	247					9																	21837923		2203	4300	6503	SO:0001583	missense	0			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"S-methyl-5'-thioadenosine phosphorylase"	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.415C>G	9.37:g.21837923C>G	ENSP00000461932:p.Gln139Glu			Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP	p.Q122E	ENST00000460874.2	37	c.364		9	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399462	0.42512	.	.	ENSG00000099810	ENST00000380172	D	0.86432	-2.12	5.7	5.7	0.88788	Nucleoside phosphorylase domain (1);	0.134994	0.53938	D	0.000047	D	0.87160	0.6108	M	0.74467	2.265	0.58432	D	0.999999	P;P	0.41041	0.734;0.736	B;B	0.37692	0.256;0.195	D	0.86287	0.1671	10	0.32370	T	0.25	-21.6389	18.6126	0.91291	0.0:1.0:0.0:0.0	.	139;122	B4DUC8;Q13126	.;MTAP_HUMAN	E	122	ENSP00000369519:Q122E	ENSP00000369519:Q122E	Q	+	1	0	MTAP	21827923	1.000000	0.71417	0.998000	0.56505	0.874000	0.50279	2.972000	0.49256	2.683000	0.91414	0.655000	0.94253	CAG	MTAP	-	pfam_Nucleoside_phosphorylase_d,tigrfam_MTAP	ENSG00000099810		0.433	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	MTAP	HGNC	protein_coding	OTTHUMT00000051929.2		0	49	0	C	NM_002451		21837923	1			no_errors	ENST00000380172	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.998	G	G	21837923	C	G	21837923	3	3	89	1	0	0	0	0	1	0	0	0	9949	827	29	5	382	5	MTAP	9	21837923	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		21837923	119375508	162	25528											
CCIN	881	genome.wustl.edu	37	chr9	36169562	36169562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacctgaacagacaGaggaaacgcaaagagtactg	17	4	11	9	1	0	5	0	1	0	4	0	6	0	6	1	1	5	3	1	1	5	1	rs145639010		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:36169562G>T	ENST00000335119.2	+	1	174	c.63G>T	c.(61-63)caG>caT	p.Q21H		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	21	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TGAACAGACAGAGGAAACGCA	0.507																																																	0													149	141	144					9																	36169562		2203	4300	6503	SO:0001583	missense	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"BTB/POZ domain containing"	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.63G>T	9.37:g.36169562G>T	ENSP00000334996:p.Gln21His		Q9BXG7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q21H	ENST00000335119.2	37	c.63	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914254	0.52546	.	.	ENSG00000185972	ENST00000335119	T	0.71461	-0.57	5.69	5.69	0.88448	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.53938	D	0.000060	D	0.84951	0.5586	M	0.83692	2.655	0.38314	D	0.943339	D	0.62365	0.991	D	0.78314	0.991	D	0.88004	0.2758	10	0.87932	D	0	.	15.3016	0.73955	0.0:0.0:1.0:0.0	.	21	Q13939	CALI_HUMAN	H	21	ENSP00000334996:Q21H	ENSP00000334996:Q21H	Q	+	3	2	CCIN	36159562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.234000	0.43035	2.690000	0.91761	0.561000	0.74099	CAG	CCIN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold	ENSG00000185972		0.507	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	-	0	86	0	G	NM_005893		36169562	1	tier1	-	no_errors	ENST00000335119	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	36169562	G	T	36169562	3	4	89	1	0	0	0	0	1	0	0	0	2885	933	33	3	65	3	CCIN	9	36169562	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	14331639	36169562	105043869	163	25529											
FLJ46321	389763	genome.wustl.edu	37	chr9	84605340	84605340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catactattcaggtttcccaGactggaaaagtttccagaga	13	11	8	9	0	1	2	1	0	0	2	3	4	3	3	2	2	1	2	2	2	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:84605340G>A	ENST00000344803.2	+	3	288	c.241G>A	c.(241-243)Gac>Aac	p.D81N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	81					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGTTTCCCAGACTGGAAAAG	0.433																																																	0													81	75	77					9																	84605340		1850	4095	5945	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.241G>A	9.37:g.84605340G>A	ENSP00000341988:p.Asp81Asn			Missense_Mutation	SNP	NULL	p.D81N	ENST00000344803.2	37	c.241	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	6.581	0.475523	0.12521	.	.	ENSG00000214929	ENST00000344803	T	0.05925	3.37	2.82	2.82	0.32997	.	3.369830	0.01098	N	0.005300	T	0.10208	0.0250	L	0.43152	1.355	0.09310	N	1	P	0.50528	0.936	P	0.44477	0.451	T	0.29119	-1.0022	10	0.45353	T	0.12	-4.8475	9.3553	0.38161	0.0:0.0:1.0:0.0	.	81	Q6ZQQ2	F75D1_HUMAN	N	81	ENSP00000341988:D81N	ENSP00000341988:D81N	D	+	1	0	FAM75D1	83795160	0.150000	0.22732	0.017000	0.16124	0.003000	0.03518	2.678000	0.46900	1.909000	0.55274	0.650000	0.86243	GAC	SPATA31D1	-	NULL	ENSG00000214929		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	57	0	G	NM_001001670		84605340	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	8.11	68	6	SNP	0.018	A	A	84605340	G	A	84605340	3	1	89	1	0	0	0	0	1	0	0	0	5954	942	33	3	251	3	FLJ46321	9	84605340	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	48435778	84605340	56608091	164	25530											
PTCH1	5727	genome.wustl.edu	37	chr9	98222023	98222023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagatgtagaaagcgctggGattaatgatgccatctgcat	12	11	12	6	1	1	3	0	1	1	2	1	4	1	4	1	1	3	4	1	1	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:98222023G>T	ENST00000331920.6	-	17	3045	c.2746C>A	c.(2746-2748)Ccc>Acc	p.P916T	PTCH1_ENST00000430669.2_Missense_Mutation_p.P850T|PTCH1_ENST00000429896.2_Missense_Mutation_p.P765T|PTCH1_ENST00000375274.2_Missense_Mutation_p.P915T|PTCH1_ENST00000437951.1_Missense_Mutation_p.P850T|PTCH1_ENST00000418258.1_Missense_Mutation_p.P765T|PTCH1_ENST00000421141.1_Missense_Mutation_p.P765T	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	916					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAGCGCTGGGATTAATGATG	0.542																																																	0													94	82	86					9																	98222023		2203	4300	6503	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2746C>A	9.37:g.98222023G>T	ENSP00000332353:p.Pro916Thr		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.P916T	ENST00000331920.6	37	c.2746	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837900	0.71373	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90844	-2.74;-2.73;-2.72;-2.72;-2.73;-2.72;-2.74	5.0	5.0	0.66597	.	0.050999	0.85682	D	0.000000	D	0.92893	0.7739	M	0.62154	1.92	0.80722	D	1	D;D;P	0.53312	0.959;0.958;0.885	P;P;P	0.54346	0.749;0.693;0.665	D	0.92631	0.6116	10	0.46703	T	0.11	-22.9664	18.4744	0.90786	0.0:0.0:1.0:0.0	.	850;915;916	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	T	916;850;765;765;352;850;765;915	ENSP00000332353:P916T;ENSP00000389744:P850T;ENSP00000399981:P765T;ENSP00000396135:P765T;ENSP00000410287:P850T;ENSP00000414823:P765T;ENSP00000364423:P915T	ENSP00000332353:P916T	P	-	1	0	PTCH1	97261844	1.000000	0.71417	0.981000	0.43875	0.998000	0.95712	9.263000	0.95617	2.600000	0.87896	0.563000	0.77884	CCC	PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.542	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0	78	0	G	NM_000264		98222023	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	98222023	G	T	98222023	3	4	89	1	0	0	0	0	1	0	0	0	12772	1174	41	3	1625	3	PTCH1	9	98222023	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	13616683	98222023	42991408	165	25531											
C9orf84	158401	genome.wustl.edu	37	chr9	114510480	114510480	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgcttgttagtaagatCtgaaaaggaagaaactctgt	14	12	9	6	0	2	3	0	1	2	2	3	4	3	4	1	1	2	3	1	1	6	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:114510480C>T	ENST00000318737.4	-	7	799		c.e7-1		C9orf84_ENST00000394777.4_Splice_Site|C9orf84_ENST00000374287.3_Splice_Site|C9orf84_ENST00000394779.3_Splice_Site|C9orf84_ENST00000374283.5_Splice_Site	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84											breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAGTAAGATCTGAAAAGGAA	0.343																																																	0													96	94	95					9																	114510480		2203	4300	6503	SO:0001630	splice_region_variant	0			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.671-1G>A	9.37:g.114510480C>T			A2A2V3|Q2M1H8|Q96M73	Splice_Site	SNP	-	e6-1	ENST00000318737.4	37	c.671-1	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251233	0.39797	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0254	0.53367	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9orf84	113550301	1.000000	0.71417	0.982000	0.44146	0.643000	0.38383	1.553000	0.36255	2.543000	0.85770	0.637000	0.83480	.	C9orf84	-	-	ENSG00000165181		0.343	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	-	0	50	0	C	NM_173521	Intron	114510480	-1	tier1	-	no_errors	ENST00000318737	ensembl	human	known	74_37	splice_site	10.71	50	6	SNP	0.988	T	T	114510480	C	T	114510480	5	4	89	1	0	0	0	0	0	0	1	0	2507	927	32	3	3744	3	C9orf84	9	114510480	Splice_Site	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	16288457	114510480	26702951	166	25532											
ZFP37	7539	genome.wustl.edu	37	chr9	115812134	115812134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacaggttgctctgagcagGatccagttgcttccattcct	8	13	9	11	0	1	1	0	1	1	0	4	2	4	2	3	2	4	5	3	2	1	5	rs142182003		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:115812134G>T	ENST00000374227.3	-	2	178	c.151C>A	c.(151-153)Cct>Act	p.P51T	ZFP37_ENST00000553380.1_Missense_Mutation_p.P66T|ZFP37_ENST00000555206.1_Missense_Mutation_p.P52T	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCTGAGCAGGATCCAGTTGC	0.413																																																	0													216	174	189					9																	115812134		2203	4300	6503	SO:0001583	missense	0			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"Zinc fingers, C2H2-type", "-"	12863	protein-coding gene	gene with protein product		602951	"zinc finger protein homologous to Zfp37 in mouse", "zinc finger protein 37 homolog (mouse)"				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.151C>A	9.37:g.115812134G>T	ENSP00000363344:p.Pro51Thr		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P66T	ENST00000374227.3	37	c.196	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	G	16.19	3.051724	0.55218	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.02472	4.28;4.28;4.28	3.82	2.93	0.34026	Krueppel-associated box (4);	0.000000	0.41823	D	0.000820	T	0.05410	0.0143	L	0.58101	1.795	0.31857	N	0.621493	P;P;P	0.41420	0.705;0.705;0.749	B;B;P	0.45195	0.342;0.342;0.473	T	0.04961	-1.0915	10	0.44086	T	0.13	-7.623	10.0303	0.42096	0.1028:0.0:0.8972:0.0	.	52;66;51	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	T	51;52;66	ENSP00000363344:P51T;ENSP00000451310:P52T;ENSP00000452552:P66T	ENSP00000363344:P51T	P	-	1	0	ZFP37	114851955	0.880000	0.30214	1.000000	0.80357	0.773000	0.43773	0.670000	0.25157	1.199000	0.43173	0.555000	0.69702	CCT	ZFP37	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000136866		0.413	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	-	0	88	0	G	NM_003408		115812134	-1	tier1	-	no_errors	ENST00000553380	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	115812134	G	T	115812134	3	4	89	1	0	0	0	0	1	0	0	0	17696	1174	41	3	1753	3	ZFP37	9	115812134	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1301654	115812134	25401297	167	25533											
WDR31	114987	genome.wustl.edu	37	chr9	116085328	116085328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggtgaccaccatggcatgGccacacaattgctgccttgg	8	8	11	14	1	0	1	0	1	0	0	0	1	0	1	5	4	2	2	5	4	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:116085328G>A	ENST00000374193.4	-	6	678	c.432C>T	c.(430-432)ggC>ggT	p.G144G	WDR31_ENST00000341761.4_Silent_p.G143G|WDR31_ENST00000374195.3_Silent_p.G19G|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	144										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CCATGGCATGGCCACACAATT	0.532																																																	0													108	90	96					9																	116085328		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"WD repeat domain containing"	21421	protein-coding gene	gene with protein product	"similar to spermatid WD-repeat protein"						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.432C>T	9.37:g.116085328G>A			Q5W0T9|Q96EG8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G144	ENST00000374193.4	37	c.432	CCDS35110.1	9																																																																																			WDR31	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000148225		0.532	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	HGNC	protein_coding	OTTHUMT00000053734.2	-	0	84	0	G	NM_145241		116085328	-1	tier1	-	no_errors	ENST00000374193	ensembl	human	known	74_37	silent	21.15	41	11	SNP	1.000	A	A	116085328	G	A	116085328	2	1	89	1	0	0	0	0	0	0	0	1	17335	1190	42	3		3	WDR31	9	116085328	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	273194	116085328	25128103	168	25534											
RABEPK	10244	genome.wustl.edu	37	chr9	127994943	127994943	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctgcccactcagctGtggccatgggaaaacatgtg	8	9	13	11	0	1	0	1	0	0	0	1	1	1	1	2	2	4	3	2	2	2	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:127994943G>T	ENST00000373538.3	+	7	1055	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L	RABEPK_ENST00000259460.8_Missense_Mutation_p.V198L|RABEPK_ENST00000394125.4_Missense_Mutation_p.V249L|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	249					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CCACTCAGCTGTGGCCATGGG	0.537																																																	0													73	66	68					9																	127994943		2203	4300	6503	SO:0001583	missense	0			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.745G>T	9.37:g.127994943G>T	ENSP00000362639:p.Val249Leu		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.V249L	ENST00000373538.3	37	c.745	CCDS6862.1	9	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910683	0.92107	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.81078	-1.45;-1.45;-1.45	5.39	5.39	0.77823	Kelch-type beta propeller (1);	0.238547	0.42053	D	0.000780	D	0.87676	0.6237	M	0.79123	2.44	0.80722	D	1	P;D;P	0.57899	0.472;0.981;0.472	B;P;B	0.56042	0.396;0.79;0.396	D	0.87852	0.2658	10	0.46703	T	0.11	-8.3003	18.1568	0.89694	0.0:0.0:1.0:0.0	.	249;198;249	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	L	249;198;249	ENSP00000377683:V249L;ENSP00000259460:V198L;ENSP00000362639:V249L	ENSP00000259460:V198L	V	+	1	0	RABEPK	127034764	1.000000	0.71417	0.917000	0.36280	0.918000	0.54935	9.432000	0.97498	2.515000	0.84797	0.655000	0.94253	GTG	RABEPK	-	pfam_Kelch_2,pfam_Kelch_1	ENSG00000136933		0.537	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1		0	67	0	G	NM_005833		127994943	1			no_errors	ENST00000373538	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.999	T	T	127994943	G	T	127994943	3	4	89	1	0	0	0	0	1	0	0	0	13008	1377	48	3	767	3	RABEPK	9	127994943	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	11909615	127994943	13218488	169	25535											
FAM102A	399665	genome.wustl.edu	37	chr9	130710474	130710474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggaggaatcctggcctggGatggagatggacttggcagt	9	8	18	6	0	0	1	0	0	0	1	1	6	1	5	2	7	0	1	2	7	1	1	rs201396281		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:130710474G>T	ENST00000373095.1	-	6	867	c.492C>A	c.(490-492)atC>atA	p.I164I	FAM102A_ENST00000373084.4_Silent_p.I22I|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	164	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CCTGGCCTGGGATGGAGATGG	0.617																																																	0													93	82	85					9																	130710474		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"sym-3 homolog A (C. elegans)"	610891	"chromosome 9 open reading frame 132"	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.492C>A	9.37:g.130710474G>T			A2A329|Q8TEL4	Silent	SNP	pfam_NT-C2	p.I164	ENST00000373095.1	37	c.492	CCDS35150.1	9																																																																																			FAM102A	-	NULL	ENSG00000167106		0.617	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2		0	92	0	G			130710474	-1			no_errors	ENST00000373095	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	T	T	130710474	G	T	130710474	2	4	89	1	0	0	0	0	0	0	0	1	5401	1164	41	3		3	FAM102A	9	130710474	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2715531	130710474	10502957	170	25536											
ODF2	4957	genome.wustl.edu	37	chr9	131260855	131260855	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgaagatgcgaggaggcagGtcagtcccgatttcatgaat	11	10	13	7	2	2	3	2	2	0	1	3	6	3	4	1	3	1	1	1	3	2	2	rs373500213		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:131260855G>T	ENST00000434106.3	+	19	2538		c.e19+1		ODF2_ENST00000351030.3_Splice_Site|ODF2_ENST00000372807.5_Splice_Site|ODF2_ENST00000604420.1_Splice_Site|ODF2_ENST00000444119.2_Splice_Site|ODF2_ENST00000393527.3_Splice_Site	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						gaggaggcaggtcagtcccga	0.522																																																	0													59	48	52					9																	131260855		2203	4299	6502	SO:0001630	splice_region_variant	0			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"cancer/testis antigen 134"	602015	"outer dense fibre of sperm tails 2"			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2175+1G>T	9.37:g.131260855G>T			B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Splice_Site	SNP	-	e18+1	ENST00000434106.3	37	c.2175+1	CCDS56588.1	9																																																																																			ODF2	-	-	ENSG00000136811		0.522	ODF2-011	KNOWN	basic|CCDS	protein_coding	ODF2	HGNC	protein_coding	OTTHUMT00000054449.3		0	88	0	G		Intron	131260855	1			no_errors	ENST00000434106	ensembl	human	known	74_37	splice_site	5.48	69	4	SNP	1.000	T	T	131260855	G	T	131260855	5	4	89	1	0	0	0	0	0	0	1	0	10866	1275	44	3	2364	3	ODF2	9	131260855	Splice_Site	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	550381	131260855	9952576	171	25537											
SPTAN1	6709	genome.wustl.edu	37	chr9	131345085	131345085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatgagctcaagagttGggtcaatgagaagatgaaaa	15	10	12	4	0	3	6	2	4	1	3	3	7	3	6	0	1	1	2	0	1	5	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:131345085G>T	ENST00000372731.4	+	14	1873	c.1763G>T	c.(1762-1764)tGg>tTg	p.W588L	SPTAN1_ENST00000358161.5_Missense_Mutation_p.W588L|SPTAN1_ENST00000372739.3_Missense_Mutation_p.W588L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	588					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTCAAGAGTTGGGTCAATGAG	0.473																																					NSCLC(120;833 1744 2558 35612 37579)												0													107	106	106					9																	131345085		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"EF-hand domain containing"	11273	protein-coding gene	gene with protein product	"alpha-fodrin"	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.1763G>T	9.37:g.131345085G>T	ENSP00000361816:p.Trp588Leu		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.W588L	ENST00000372731.4	37	c.1763	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254445	0.80135	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.70164	-0.46;-0.46;-0.46	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	M	0.93328	3.405	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.985;1.0;0.995;1.0	D;D;D;D;D	0.97110	0.998;0.982;0.999;0.984;1.0	D	0.89734	0.3928	10	0.87932	D	0	.	19.0811	0.93182	0.0:0.0:1.0:0.0	.	588;588;588;588;588	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	L	588	ENSP00000350882:W588L;ENSP00000361816:W588L;ENSP00000361824:W588L	ENSP00000350882:W588L	W	+	2	0	SPTAN1	130384906	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.756000	0.94617	0.561000	0.74099	TGG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.473	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0	51	0	G	NM_003127		131345085	1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	131345085	G	T	131345085	3	4	89	1	0	0	0	0	1	0	0	0	15164	1357	47	3	1813	3	SPTAN1	9	131345085	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	84230	131345085	9868346	172	25538											
FCN2	2220	genome.wustl.edu	37	chr9	137774464	137774464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgggcccaagggagagGcaggcaccaatggaaagaga	13	2	15	11	0	0	2	0	0	0	2	0	5	0	3	4	5	0	2	4	5	3	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr9:137774464G>T	ENST00000291744.6	+	2	203	c.193G>T	c.(193-195)Gca>Tca	p.A65S	FCN2_ENST00000350339.2_Intron	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	65	Collagen-like.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAAGGGAGAGGCAGGCACCAA	0.612																																																	0													52	58	56					9																	137774464		2203	4300	6503	SO:0001583	missense	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"Fibrinogen C domain containing"	3624	protein-coding gene	gene with protein product	"hucolin", "collagen/fibrinogen domain-containing protein 2", "ficolin B", "serum lectin p35", "L-ficolin"	601624	"ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.193G>T	9.37:g.137774464G>T	ENSP00000291744:p.Ala65Ser		A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.A65S	ENST00000291744.6	37	c.193	CCDS6983.1	9	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700302	0.30142	.	.	ENSG00000160339	ENST00000291744	D	0.83163	-1.69	3.91	2.05	0.26809	.	0.402150	0.17754	U	0.163129	T	0.75671	0.3881	L	0.55834	1.745	0.80722	D	1	B	0.24258	0.1	B	0.28305	0.088	T	0.61028	-0.7145	10	0.15952	T	0.53	.	7.5837	0.27980	0.2178:0.0:0.7822:0.0	.	65	Q15485	FCN2_HUMAN	S	65	ENSP00000291744:A65S	ENSP00000291744:A65S	A	+	1	0	FCN2	136914285	0.000000	0.05858	0.606000	0.28943	0.606000	0.37113	-0.026000	0.12392	0.162000	0.19483	0.462000	0.41574	GCA	FCN2	-	pfam_Collagen	ENSG00000160339		0.612	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1		0	54	0	G	NM_004108		137774464	1			no_errors	ENST00000291744	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.949	T	T	137774464	G	T	137774464	3	4	89	1	0	0	0	0	1	0	0	0	5814	1203	42	3	199	3	FCN2	9	137774464	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	6429379	137774464	3438967	173	25539											
UPF2	26019	genome.wustl.edu	37	chr10	12071195	12071195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcaaagtcagcataacGctggtgaaagagagagcaga	15	5	15	6	1	1	4	1	1	0	3	1	5	1	4	0	3	3	4	0	3	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:12071195G>A	ENST00000356352.2	-	2	1167	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	UPF2_ENST00000357604.5_Missense_Mutation_p.R232C|UPF2_ENST00000397053.2_Missense_Mutation_p.R232C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	232	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCAGCATAACGCTGGTGAAAG	0.423																																																	0													84	92	90					10																	12071195		2203	4300	6503	SO:0001583	missense	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.694C>T	10.37:g.12071195G>A	ENSP00000348708:p.Arg232Cys		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R232C	ENST00000356352.2	37	c.694	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799736	0.70567	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.24350	1.86;1.86;1.86	5.87	4.96	0.65561	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.98	T	0.67795	-0.5578	10	0.87932	D	0	.	16.735	0.85444	0.0:0.0:0.8696:0.1304	.	202;232	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	C	232;232;202;232;202	ENSP00000348708:R232C;ENSP00000350221:R232C;ENSP00000380244:R232C	ENSP00000313617:R202C	R	-	1	0	UPF2	12111201	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.478000	0.66806	1.606000	0.50161	-0.182000	0.12963	CGT	UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000151461		0.423	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1		0	54	0	G			12071195	-1			no_errors	ENST00000356352	ensembl	human	known	74_37	missense	5.71	32	2	SNP	1.000	A	A	12071195	G	A	12071195	3	1	89	1	0	0	0	0	1	0	0	0	17053	1087	38	1	3204	1	UPF2	10	12071195	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		12071195	123463552	174	25540											
SEPHS1	22929	genome.wustl.edu	37	chr10	13380806	13380806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaagtatccattccaaTgcctgtggagatggaagtca	13	9	10	9	0	1	1	1	0	0	1	3	4	3	2	3	2	1	1	3	2	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:13380806T>C	ENST00000327347.5	-	3	571	c.196A>G	c.(196-198)Att>Gtt	p.I66V	SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000537130.1_5'UTR|SEPHS1_ENST00000378614.4_Missense_Mutation_p.I66V|SEPHS1_ENST00000545675.1_Missense_Mutation_p.I66V	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	66					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TCCATTCCAATGCCTGTGGAG	0.423																																																	0													99	89	92					10																	13380806		2203	4300	6503	SO:0001583	missense	0			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.196A>G	10.37:g.13380806T>C	ENSP00000367893:p.Ile66Val		B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.I66V	ENST00000327347.5	37	c.196	CCDS7098.1	10	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137678	0.56936	.	.	ENSG00000086475	ENST00000327347;ENST00000319684;ENST00000378614;ENST00000545675;ENST00000413411	T;T;T	0.44881	0.94;0.91;0.93	5.45	5.45	0.79879	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.53249	1.67	0.80722	D	1	B;B;B;B;B	0.18013	0.001;0.0;0.025;0.004;0.025	B;B;B;B;B	0.12156	0.007;0.001;0.005;0.004;0.005	T	0.19877	-1.0292	10	0.19147	T	0.46	-18.6911	15.542	0.76057	0.0:0.0:0.0:1.0	.	18;66;66;66;66	B4DLS1;Q5T5U9;P49903;D6PSQ9;D3DRS9	.;.;SPS1_HUMAN;.;.	V	66	ENSP00000367893:I66V;ENSP00000367877:I66V;ENSP00000441119:I66V	ENSP00000367887:I66V	I	-	1	0	SEPHS1	13420812	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	2.064000	0.61679	0.533000	0.62120	ATT	SEPHS1	-	superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	ENSG00000086475		0.423	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	HGNC	protein_coding	OTTHUMT00000046856.1	-	0	83	0	T	NM_012247		13380806	-1	tier1	-	no_errors	ENST00000327347	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	C	C	13380806	T	C	13380806	3	2	89	1	0	0	0	0	1	0	0	0	14099	1464	51	4	1010	4	SEPHS1	10	13380806	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	1309611	13380806	122153941	175	25541											
FAM107B	83641	genome.wustl.edu	37	chr10	14563922	14563922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccaagtcagatttcttCttctgtgcttcttcttcctt	5	21	4	11	0	6	1	1	0	5	1	8	1	8	1	2	0	1	1	2	0	1	8			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:14563922C>G	ENST00000378470.1	-	3	511	c.225G>C	c.(223-225)aaG>aaC	p.K75N	FAM107B_ENST00000378462.1_Missense_Mutation_p.K75N|FAM107B_ENST00000378467.4_Missense_Mutation_p.K75N|FAM107B_ENST00000479731.1_Missense_Mutation_p.K75N|FAM107B_ENST00000378458.2_Missense_Mutation_p.K75N|FAM107B_ENST00000478076.1_Missense_Mutation_p.K75N|FAM107B_ENST00000378465.3_Missense_Mutation_p.K75N|FAM107B_ENST00000181796.2_Missense_Mutation_p.K250N|FAM107B_ENST00000496330.1_Missense_Mutation_p.K75N|FAM107B_ENST00000468747.1_Missense_Mutation_p.K75N	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	75					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGATTTCTTCTTCTGTGCTT	0.423																																																	0													233	216	222					10																	14563922		2203	4300	6503	SO:0001583	missense	0			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 45"	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.225G>C	10.37:g.14563922C>G	ENSP00000367731:p.Lys75Asn		A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	pfam_DUF1151	p.K250N	ENST00000378470.1	37	c.750		10	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113978	0.56398	.	.	ENSG00000065809	ENST00000378470;ENST00000181796;ENST00000468747;ENST00000378467;ENST00000378465;ENST00000378458;ENST00000478076;ENST00000378462;ENST00000378461;ENST00000496330;ENST00000479731;ENST00000468492;ENST00000452706;ENST00000489100;ENST00000494865;ENST00000475786;ENST00000488576;ENST00000442012;ENST00000482277	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.97	4.89	0.63831	.	0.043178	0.85682	D	0.000000	T	0.57681	0.2070	L	0.50333	1.59	0.51767	D	0.999933	D;P	0.89917	1.0;0.77	D;B	0.71870	0.975;0.327	T	0.57447	-0.7810	10	0.62326	D	0.03	-14.8998	15.1739	0.72896	0.0:0.9214:0.0:0.0786	.	250;75	Q9H098-2;Q9H098	.;F107B_HUMAN	N	75;250;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75;75	ENSP00000367731:K75N;ENSP00000181796:K250N;ENSP00000418120:K75N;ENSP00000367728:K75N;ENSP00000367726:K75N;ENSP00000367719:K75N;ENSP00000417782:K75N;ENSP00000367723:K75N;ENSP00000418330:K75N;ENSP00000419603:K75N;ENSP00000420444:K75N;ENSP00000413676:K75N;ENSP00000420249:K75N;ENSP00000418395:K75N;ENSP00000417242:K75N;ENSP00000420314:K75N;ENSP00000397949:K75N;ENSP00000417845:K75N	ENSP00000181796:K250N	K	-	3	2	FAM107B	14603928	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.351000	0.52232	2.837000	0.97791	0.655000	0.94253	AAG	FAM107B	-	pfam_DUF1151	ENSG00000065809		0.423	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000046899.1	-	0	134	0	C	NM_031453		14563922	-1	tier1	-	no_errors	ENST00000181796	ensembl	human	known	74_37	missense	8.06	114	10	SNP	1.000	G	G	14563922	C	G	14563922	3	3	89	1	0	0	0	0	1	0	0	0	5409	912	32	5	178	5	FAM107B	10	14563922	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1183116	14563922	120970825	176	25542											
ZEB1	6935	genome.wustl.edu	37	chr10	31791292	31791292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagtaaaagatgatgaatgCgagtcagatgcagaaaatga	18	9	11	3	1	1	6	1	3	0	3	1	7	1	6	0	0	2	2	0	0	6	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:31791292C>T	ENST00000320985.10	+	4	446	c.336C>T	c.(334-336)tgC>tgT	p.C112C	ZEB1_ENST00000560721.2_Silent_p.C92C|ZEB1_ENST00000361642.5_Silent_p.C113C|ZEB1_ENST00000446923.2_Silent_p.C96C|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Silent_p.C45C			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	112					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.C112C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGATGAATGCGAGTCAGATG	0.338																																					Ovarian(40;423 959 14296 36701 49589)												1	Substitution - coding silent(1)	large_intestine(1)											95	87	90					10																	31791292		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.336C>T	10.37:g.31791292C>T			B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.C113	ENST00000320985.10	37	c.339	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191691	0.21954	.	.	ENSG00000148516	ENST00000543514	.	.	.	5.92	-4.35	0.03656	.	.	.	.	.	T	0.69566	0.3125	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74830	-0.3531	5	0.87932	D	0	-10.5085	13.9391	0.64043	0.0:0.2781:0.0:0.7219	.	.	.	.	V	4	.	ENSP00000443742:A4V	A	+	2	0	ZEB1	31831298	0.691000	0.27709	0.986000	0.45419	0.998000	0.95712	-0.181000	0.09740	-0.731000	0.04862	0.650000	0.86243	GCG	ZEB1	-	NULL	ENSG00000148516		0.338	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2		0	75	0	C	NM_030751		31791292	1			no_errors	ENST00000361642	ensembl	human	known	74_37	silent	6.52	43	3	SNP	0.990	T	T	31791292	C	T	31791292	2	4	89	1	0	0	0	0	0	0	0	1	17671	776	27	1		1	ZEB1	10	31791292	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	17227370	31791292	103743455	177	25543											
KIF5B	3799	genome.wustl.edu	37	chr10	32327107	32327107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacctttacatagggaactCggtttttgtcttcatgaact	10	16	7	8	1	2	1	1	1	1	0	3	2	2	2	1	2	4	1	1	2	5	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:32327107C>T	ENST00000302418.4	-	6	939	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	161	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATAGGGAACTCGGTTTTTGTC	0.348			T	"RET, ALK"	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													110	120	117					10																	32327107		2203	4300	6503	SO:0001583	missense	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"Kinesins"	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.482G>A	10.37:g.32327107C>T	ENSP00000307078:p.Arg161Gln		A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R161Q	ENST00000302418.4	37	c.482	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.581286	0.96565	.	.	ENSG00000170759	ENST00000302418	T	0.75050	-0.9	5.38	5.38	0.77491	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	L	0.39397	1.21	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.83734	0.0200	10	0.72032	D	0.01	.	19.4918	0.95052	0.0:1.0:0.0:0.0	.	161	P33176	KINH_HUMAN	Q	161	ENSP00000307078:R161Q	ENSP00000307078:R161Q	R	-	2	0	KIF5B	32367113	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.003000	0.70701	2.666000	0.90696	0.650000	0.86243	CGA	KIF5B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000170759		0.348	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	-	0	71	0	C	NM_004521		32327107	-1	tier1	-	no_errors	ENST00000302418	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	T	T	32327107	C	T	32327107	3	4	89	1	0	0	0	0	1	0	0	0	8333	884	31	1	2489	1	KIF5B	10	32327107	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	535815	32327107	103207640	178	25544											
CDH23	414152	genome.wustl.edu	37	chr10	73492057	73492057	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctactccatcgacaacctCaaccaaatcacgtaccgctt	12	8	4	17	3	2	0	2	0	0	0	4	1	3	0	5	0	4	2	5	0	5	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:73492057C>T	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.L1348L	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											TCGACAACCTCAACCAAATCA	0.587																																																	0													72	72	72					10																	73492057		2064	4212	6276	SO:0001627	intron_variant	0			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5427G>A	10.37:g.73492057C>T				Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L1348	ENST00000398786.2	37	c.4044	CCDS44430.1	10																																																																																			CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.587	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000048551.2	-	0	101	0	C	NM_001164375		73492057	1	tier1	-	no_errors	ENST00000224721	ensembl	human	putative	74_37	silent	11.63	38	5	SNP	1.000	T	T	73492057	C	T	73492057	1	4	89	0	1	0	0	0	0	0	0	0	3115	813	29	3		3	CDH23	10	73492057	Intron	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	41164950	73492057	62042690	179	25545											
PLAU	414236	genome.wustl.edu	37	chr10	75672811	75672811	+	5'UTR	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaacgtaccatgcccacaGatctgatgctcttcagctgg	10	9	9	13	1	3	2	1	1	2	1	3	2	3	2	2	1	5	4	2	1	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:75672811G>A	ENST00000409178.1	-	0	290				PLAU_ENST00000446342.1_Missense_Mutation_p.R91K|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Missense_Mutation_p.R108K|PLAU_ENST00000372762.4_Missense_Mutation_p.R72K|C10orf55_ENST00000412307.2_5'UTR	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55											endometrium(1)	1	Prostate(51;0.0112)					CATGCCCACAGATCTGATGCT	0.567																																																	0													70	65	67					10																	75672811		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.-51C>T	10.37:g.75672811G>A			Q3KRG4|Q8NAK4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R108K	ENST00000409178.1	37	c.323	CCDS53541.1	10	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309528	0.60414	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	T;T;T	0.65178	-0.14;-0.14;-0.14	5.58	4.64	0.57946	Kringle (4);Kringle-like fold (1);	0.729653	0.13669	N	0.371006	T	0.56529	0.1991	L	0.52759	1.655	0.25351	N	0.988861	B;B;P;B	0.43231	0.088;0.051;0.801;0.03	B;B;B;B	0.39971	0.053;0.088;0.315;0.038	T	0.52646	-0.8548	9	.	.	.	.	11.8873	0.52610	0.0:0.0:0.8269:0.1731	.	91;72;108;108	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	K	91;108;72;72	ENSP00000388474:R91K;ENSP00000361850:R108K;ENSP00000361848:R72K	.	R	+	2	0	PLAU	75342817	0.027000	0.19231	0.828000	0.32881	0.967000	0.64934	0.809000	0.27168	2.625000	0.88918	0.650000	0.86243	AGA	PLAU	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000122861		0.567	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAU	HGNC	protein_coding	OTTHUMT00000048746.1	-	0	85	0	G	NM_001001791		75672811	1	tier1	-	no_errors	ENST00000372764	ensembl	human	known	74_37	missense	11.11	56	7	SNP	0.151	A	A	75672811	G	A	75672811	1	1	89	0	1	0	0	0	0	0	0	0	12061	942	33	3		3	PLAU	10	75672811	5'UTR	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2180754	75672811	59861936	180	25546											
MYOF	26509	genome.wustl.edu	37	chr10	95085666	95085666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctgagtcctgaggatgtGaagagcaagccgctcttcag	9	8	12	12	1	2	4	1	3	1	1	3	5	3	5	4	1	2	2	4	1	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:95085666G>A	ENST00000359263.4	-	46	5187	c.5188C>T	c.(5188-5190)Cac>Tac	p.H1730Y	MYOF_ENST00000358334.5_Missense_Mutation_p.H1717Y|MYOF_ENST00000371502.4_Missense_Mutation_p.H1749Y|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000371501.4_Missense_Mutation_p.H1730Y	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1730					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGAGGATGTGAAGAGCAAGC	0.547																																																	0													93	99	97					10																	95085666		1915	4121	6036	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"fer-1-like family member 3"	604603	"fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)"	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5188C>T	10.37:g.95085666G>A	ENSP00000352208:p.His1730Tyr		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.H1730Y	ENST00000359263.4	37	c.5188	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707187	0.30232	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-1.69	5.85	1.24	0.21308	.	0.196102	0.53938	N	0.000047	T	0.74974	0.3787	N	0.21142	0.635	0.42268	D	0.992041	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.001	T	0.62006	-0.6945	10	0.18276	T	0.48	-10.6606	10.3451	0.43901	0.4446:0.0:0.5554:0.0	.	1717;1730	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Y	1717;1730;1730;1749	ENSP00000351094:H1717Y;ENSP00000352208:H1730Y;ENSP00000360556:H1730Y;ENSP00000360557:H1749Y	ENSP00000351094:H1717Y	H	-	1	0	MYOF	95075656	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	2.916000	0.48813	0.347000	0.23924	-0.355000	0.07637	CAC	MYOF	-	NULL	ENSG00000138119		0.547	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	-	0	71	0	G	NM_013451		95085666	-1	tier1	-	no_errors	ENST00000359263	ensembl	human	known	74_37	missense	12.07	51	7	SNP	0.977	A	A	95085666	G	A	95085666	3	1	89	1	0	0	0	0	1	0	0	0	10127	1290	45	3	1033	3	MYOF	10	95085666	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	19412855	95085666	40449081	181	25547											
RBP4	5950	genome.wustl.edu	37	chr10	95353631	95353631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcacagctcctcctgccGctgccttacaatcttctgcg	6	10	8	17	2	2	0	0	0	2	0	4	0	4	0	4	1	5	3	4	1	2	2	rs139534453	byFrequency	TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:95353631G>A	ENST00000371467.1	-	5	836	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.R173W|RBP4_ENST00000371469.2_Missense_Mutation_p.R171W			P02753	RET4_HUMAN	retinol binding protein 4, plasma	173					cardiac muscle tissue development (GO:0048738)|detection of light stimulus involved in visual perception (GO:0050908)|embryonic organ morphogenesis (GO:0048562)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic skeletal system development (GO:0048706)|eye development (GO:0001654)|female genitalia morphogenesis (GO:0048807)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|lung development (GO:0030324)|maintenance of gastrointestinal epithelium (GO:0030277)|male gonad development (GO:0008584)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|phototransduction, visible light (GO:0007603)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of insulin secretion (GO:0032024)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to retinoic acid (GO:0032526)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|retinol transport (GO:0034633)|spermatogenesis (GO:0007283)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	retinal binding (GO:0016918)|retinol binding (GO:0019841)|retinol transporter activity (GO:0034632)			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	TCCTCCTGCCGCTGCCTTACA	0.622																																					Pancreas(5;160 256 1117 46697 50185)												0								G	TRP/ARG	0,4406		0,0,2203	93	96	95		517	2.5	1	10	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	RBP4	NM_006744.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	173/202	95353631	1,13005	2203	4300	6503	SO:0001583	missense	0			BC020633	CCDS31249.1	10q23.33	2014-01-22	2001-11-28		ENSG00000138207	ENSG00000138207		"Lipocalins"	9922	protein-coding gene	gene with protein product		180250	"retinol-binding protein 4, plasma"				Standard	XM_005270023		Approved		uc001kit.3	P02753	OTTHUMG00000018773	ENST00000371467.1:c.517C>T	10.37:g.95353631G>A	ENSP00000360522:p.Arg173Trp		D3DR38|O43478|O43479|Q5VY24|Q8WWA3|Q9P178	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Retinol-bd/Purpurin,prints_Lipocalin	p.R173W	ENST00000371467.1	37	c.517	CCDS31249.1	10	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497483	0.85069	0.0	1.16E-4	ENSG00000138207	ENST00000371464;ENST00000371469;ENST00000371467;ENST00000371463	D;D	0.83075	-1.68;-1.68	5.95	2.55	0.30701	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.137559	0.64402	D	0.000003	D	0.89406	0.6706	M	0.70595	2.14	0.49915	D	0.999835	D	0.89917	1.0	D	0.81914	0.995	D	0.88996	0.3418	10	0.72032	D	0.01	-19.2335	13.8124	0.63270	0.0:0.0:0.3447:0.6553	.	173	P02753	RET4_HUMAN	W	173;171;173;171	ENSP00000360519:R173W;ENSP00000360522:R173W	ENSP00000360518:R171W	R	-	1	2	RBP4	95343621	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	3.623000	0.54224	0.238000	0.21222	0.655000	0.94253	CGG	RBP4	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD	ENSG00000138207		0.622	RBP4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBP4	HGNC	protein_coding	OTTHUMT00000049431.1	-	0	65	0	G	NM_006744		95353631	-1	tier1	rs139534453	no_errors	ENST00000371464	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	A	A	95353631	G	A	95353631	3	1	89	1	0	0	0	0	1	0	0	0	13203	1086	38	1	96	1	RBP4	10	95353631	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	267965	95353631	40181116	182	25548											
ABCC2	1244	genome.wustl.edu	37	chr10	101567177	101567177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaaccttcattcagaGaccaagtacaaaacctccgg	13	7	8	13	1	2	1	2	0	0	1	3	3	3	2	5	2	3	1	5	2	5	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:101567177G>T	ENST00000370449.4	+	12	1680	c.1567G>T	c.(1567-1569)Gac>Tac	p.D523Y		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	523	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTCATTCAGAGACCAAGTACA	0.423																																																	0													152	156	155					10																	101567177		2203	4300	6503	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"ATP binding cassette transporters / subfamily C"	53	protein-coding gene	gene with protein product		601107	"canalicular multispecific organic anion transporter 1"	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1567G>T	10.37:g.101567177G>T	ENSP00000359478:p.Asp523Tyr		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.D523Y	ENST00000370449.4	37	c.1567	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	14.48	2.549429	0.45383	.	.	ENSG00000023839	ENST00000370449	D	0.89939	-2.59	5.31	-0.871	0.10642	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.016130	0.07824	N	0.960281	D	0.92625	0.7657	M	0.84948	2.725	0.46749	D	0.999189	P	0.45240	0.854	P	0.53266	0.722	D	0.88874	0.3335	10	0.87932	D	0	-12.4789	10.1655	0.42877	0.6788:0.0:0.3212:0.0	.	523	Q92887	MRP2_HUMAN	Y	523	ENSP00000359478:D523Y	ENSP00000359478:D523Y	D	+	1	0	ABCC2	101557167	0.056000	0.20664	0.180000	0.23079	0.569000	0.35902	0.460000	0.21924	-0.093000	0.12396	0.561000	0.74099	GAC	ABCC2	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.423	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0	53	0	G	NM_000392		101567177	1	tier1	-	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.149	T	T	101567177	G	T	101567177	3	4	89	1	0	0	0	0	1	0	0	0	53	942	33	3	1613	3	ABCC2	10	101567177	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	6213546	101567177	33967570	183	25549											
MRPL43	84545	genome.wustl.edu	37	chr10	102739014	102739014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttctatgcagccttcacGctgagcacacagtggtcagt	9	10	9	13	1	3	1	2	1	1	0	3	1	3	1	1	1	3	3	1	1	1	3	rs374213077		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:102739014G>T	ENST00000318325.2	-	5	697	c.644C>A	c.(643-645)gCg>gAg	p.A215E	SEMA4G_ENST00000517724.1_Silent_p.T323T|SEMA4G_ENST00000370250.4_Silent_p.T323T|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370242.4_Missense_Mutation_p.S257R|SEMA4G_ENST00000210633.3_Silent_p.T323T|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000370241.3_Intron	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	215					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		CAGCCTTCACGCTGAGCACAC	0.557																																																	0													105	87	93					10																	102739014		2203	4300	6503	SO:0001583	missense	0			AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"Mitochondrial ribosomal proteins / large subunits"	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.644C>A	10.37:g.102739014G>T	ENSP00000315364:p.Ala215Glu		B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Missense_Mutation	SNP	pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH	p.S257R	ENST00000318325.2	37	c.771	CCDS7502.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.65|16.65	3.182720|3.182720	0.57800|0.57800	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000318325|ENST00000370242	.|.	.|.	.|.	5.82|5.82	-3.54|-3.54	0.04653|0.04653	.|.	.|.	.|.	.|.	.|.	T|T	0.43366|0.43366	0.1244|0.1244	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999997|0.999997	P|B	0.36010|0.18863	0.532|0.031	B|B	0.32090|0.15484	0.14|0.013	T|T	0.18587|0.18587	-1.0332|-1.0332	7|7	0.87932|0.87932	D|D	0|0	-15.904|-15.904	7.762|7.762	0.28957|0.28957	0.4908:0.2316:0.2776:0.0|0.4908:0.2316:0.2776:0.0	.|.	215|257	Q8N983|B1AL06	RM43_HUMAN|.	E|R	215|257	.|.	ENSP00000315364:A215E|ENSP00000359262:S257R	A|S	-|-	2|3	0|2	MRPL43|MRPL43	102729004|102729004	0.113000|0.113000	0.22115|0.22115	0.972000|0.972000	0.41901|0.41901	0.981000|0.981000	0.71138|0.71138	-0.729000|-0.729000	0.04920|0.04920	-0.504000|-0.504000	0.06577|0.06577	0.479000|0.479000	0.44913|0.44913	GCG|AGC	MRPL43	-	NULL	ENSG00000055950		0.557	MRPL43-002	KNOWN	basic|CCDS	protein_coding	MRPL43	HGNC	protein_coding	OTTHUMT00000049902.1	-	0	49	0	G			102739014	-1	tier1	-	no_errors	ENST00000370242	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.684	T	T	102739014	G	T	102739014	3	4	89	1	0	0	0	0	1	0	0	0	9845	1087	38	2	7	2	MRPL43	10	102739014	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1171837	102739014	32795733	184	25550											
SORCS1	114815	genome.wustl.edu	37	chr10	108439438	108439438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgctggcaatgatccCtgatgtgtagggattctcag	7	14	12	8	0	2	2	1	2	2	0	4	3	3	3	1	2	1	3	1	2	2	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:108439438C>G	ENST00000263054.6	-	11	1622	c.1615G>C	c.(1615-1617)Ggg>Cgg	p.G539R	SORCS1_ENST00000344440.6_Missense_Mutation_p.G539R|SORCS1_ENST00000369698.1_Missense_Mutation_p.G74R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	539					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCAATGATCCCTGATGTGTAG	0.413																																																	0													115	94	101					10																	108439438		2203	4300	6503	SO:0001583	missense	0			AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1615G>C	10.37:g.108439438C>G	ENSP00000263054:p.Gly539Arg		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G539R	ENST00000263054.6	37	c.1615	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084412	0.76642	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.28454	1.61;1.61;1.61	6.17	5.27	0.74061	VPS10 (1);	0.051020	0.85682	D	0.000000	T	0.62417	0.2426	M	0.88906	2.99	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.999	T	0.70278	-0.4916	9	.	.	.	-24.6934	15.4423	0.75195	0.0:0.9341:0.0:0.0659	.	539;539;539;539;539	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	74;539;539	ENSP00000358712:G74R;ENSP00000263054:G539R;ENSP00000345964:G539R	.	G	-	1	0	SORCS1	108429428	1.000000	0.71417	0.938000	0.37757	0.780000	0.44128	7.487000	0.81328	1.627000	0.50400	0.655000	0.94253	GGG	SORCS1	-	smart_VPS10	ENSG00000108018		0.413	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	HGNC	protein_coding	OTTHUMT00000050232.4	-	0	51	0	C	NM_052918		108439438	-1	tier1	-	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	G	G	108439438	C	G	108439438	3	3	89	1	0	0	0	0	1	0	0	0	14975	681	24	5	2189	5	SORCS1	10	108439438	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5700424	108439438	27095309	185	25551											
ADAM12	8038	genome.wustl.edu	37	chr10	127726813	127726813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctactcaagactcaccttCggtgggtaggaatctggcgg	9	10	12	10	2	4	1	2	0	2	1	5	2	4	2	1	5	1	1	1	5	4	3	rs375026997		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:127726813C>T	ENST00000368679.4	-	20	2664	c.2355G>A	c.(2353-2355)ccG>ccA	p.P785P		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	785					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GACTCACCTTCGGTGGGTAGG	0.567																																																	0								C		0,4406		0,0,2203	50	38	42		2355	-9.8	0	10		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM12	NM_003474.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		785/910	127726813	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2355G>A	10.37:g.127726813C>T			O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P785	ENST00000368679.4	37	c.2355	CCDS7653.1	10																																																																																			ADAM12	-	NULL	ENSG00000148848		0.567	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	-	0	39	0	C			127726813	-1	tier1	-	no_errors	ENST00000368679	ensembl	human	known	74_37	silent	20.69	46	12	SNP	0.000	T	T	127726813	C	T	127726813	2	4	89	1	0	0	0	0	0	0	0	1	236	871	31	1		1	ADAM12	10	127726813	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	19287375	127726813	7807934	186	25552											
SYCE1	93426	genome.wustl.edu	37	chr10	135371408	135371408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggcaatgcagccggaGgatcctcagggtctctgtag	7	10	13	11	1	2	0	1	0	1	0	5	2	4	2	3	4	2	3	3	4	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr10:135371408G>C	ENST00000343131.5	-	6	438	c.334C>G	c.(334-336)Ctc>Gtc	p.L112V	SYCE1_ENST00000432597.2_Missense_Mutation_p.L76V|SYCE1_ENST00000368517.3_Missense_Mutation_p.L76V|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	112					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCAGCCGGAGGATCCTCAGG	0.522																																																	0													98	78	84					10																	135371408		2203	4300	6503	SO:0001583	missense	0			AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"cancer/testis antigen 76"	611486	"chromosome 10 open reading frame 94"	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.334C>G	10.37:g.135371408G>C	ENSP00000341282:p.Leu112Val		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	NULL	p.L112V	ENST00000343131.5	37	c.334	CCDS44501.1	10	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133019	0.21041	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.44	2.53	0.30540	.	0.127625	0.36555	N	0.002521	T	0.38983	0.1061	L	0.57536	1.79	0.20307	N	0.999917	P;B	0.41102	0.738;0.356	B;B	0.38562	0.276;0.104	T	0.36456	-0.9747	10	0.66056	D	0.02	-1.9	5.2539	0.15537	0.1043:0.0:0.6855:0.2102	.	112;76	Q8N0S2;Q8N0S2-2	SYCE1_HUMAN;.	V	112;76;76;112	ENSP00000303978:L112V;ENSP00000411779:L76V;ENSP00000357503:L76V;ENSP00000341282:L112V	ENSP00000303978:L112V	L	-	1	0	SYCE1	135221398	0.971000	0.33674	0.745000	0.31077	0.441000	0.31987	1.322000	0.33689	0.767000	0.33267	-0.136000	0.14681	CTC	SYCE1	-	NULL	ENSG00000171772		0.522	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYCE1	HGNC	protein_coding		-	0	55	0	G	NM_201564		135371408	-1	tier1	-	no_errors	ENST00000343131	ensembl	human	known	74_37	missense	8.82	62	6	SNP	0.791	C	C	135371408	G	C	135371408	3	2	89	1	0	0	0	0	1	0	0	0	15475	1000	35	5	796	5	SYCE1	10	135371408	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	7644595	135371408	163339	187	25553											
B4GALNT4	338707	genome.wustl.edu	37	chr11	373228	373228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctcagacgacaactcGgagttctggctgagtctgga	8	9	14	10	2	3	2	1	1	2	1	4	5	3	4	1	4	1	2	1	4	1	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:373228G>A	ENST00000329962.6	+	6	573	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	191					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACAACTCGGAGTTCTGGC	0.657																																																	0													61	60	60					11																	373228		2199	4294	6493	SO:0001819	synonymous_variant	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.573G>A	11.37:g.373228G>A			Q96LV2	Silent	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.S191	ENST00000329962.6	37	c.573	CCDS7694.1	11																																																																																			B4GALNT4	-	pfam_PA14,smart_PA14	ENSG00000182272		0.657	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	-	0	57	0	G	NM_178537		373228	1	tier1	-	no_errors	ENST00000329962	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.984	A	A	373228	G	A	373228	2	1	89	1	0	0	0	0	0	0	0	1	1270	1103	39	1		1	B4GALNT4	11	373228	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		373228	134633288	188	25554											
MUC2	4583	genome.wustl.edu	37	chr11	1079734	1079734	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgctcacacctggaggtGagcagcctgtgcgaggagca	9	6	14	12	1	1	1	1	1	0	0	1	4	1	3	3	3	5	3	3	3	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:1079734G>C	ENST00000441003.2	+	7	978	c.951G>C	c.(949-951)gtG>gtC	p.V317V	MUC2_ENST00000359061.5_Silent_p.V317V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	317	TIL.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCTGGAGGTGAGCAGCCTGT	0.667																																																	0													16	21	20					11																	1079734		2106	4192	6298	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"Mucins"	7512	protein-coding gene	gene with protein product		158370	"mucin 2, intestinal/tracheal"			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.951G>C	11.37:g.1079734G>C			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V317	ENST00000441003.2	37	c.951		11																																																																																			MUC2	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000198788		0.667	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0	111	0	G	NM_002457		1079734	1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	7.50	111	9	SNP	0.006	C	C	1079734	G	C	1079734	2	2	89	1	0	0	0	0	0	0	0	1	10013	1277	45	5		5	MUC2	11	1079734	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	706506	1079734	133926782	189	25555											
MMP26	56547	genome.wustl.edu	37	chr11	5009524	5009524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccctgctgcagaccataaagGatgggactttgttgaggtag	10	10	13	8	0	0	2	0	1	0	1	0	4	0	4	2	3	2	4	2	3	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:5009524G>C	ENST00000380390.1	+	2	299	c.83G>C	c.(82-84)gGa>gCa	p.G28A	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.G28A			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	28					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	GACCATAAAGGATGGGACTTT	0.483																																																	0													227	185	199					11																	5009524		2201	4298	6499	SO:0001583	missense	0			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"matrilysin 2"	605470	"matrix metalloproteinase 26"			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.83G>C	11.37:g.5009524G>C	ENSP00000369753:p.Gly28Ala		Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.G28A	ENST00000380390.1	37	c.83	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	G	9.844	1.191916	0.21954	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.37915	1.17;1.17	3.3	1.39	0.22231	Metallopeptidase, catalytic domain (1);	0.582412	0.14332	N	0.326295	T	0.38799	0.1054	L	0.47716	1.5	0.22066	N	0.999382	D	0.61080	0.989	P	0.54759	0.76	T	0.14227	-1.0480	10	0.62326	D	0.03	-3.2973	4.8574	0.13566	0.2879:0.0:0.7121:0.0	.	28	Q9NRE1	MMP26_HUMAN	A	28	ENSP00000369753:G28A;ENSP00000300762:G28A	ENSP00000300762:G28A	G	+	2	0	MMP26	4966100	0.988000	0.35896	0.986000	0.45419	0.588000	0.36517	1.067000	0.30616	0.721000	0.32231	0.655000	0.94253	GGA	MMP26	-	superfamily_Peptidoglycan-bd-like	ENSG00000167346		0.483	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	HGNC	protein_coding	OTTHUMT00000142058.3	-	0	68	0	G	NM_021801		5009524	1	tier1	-	no_errors	ENST00000300762	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.911	C	C	5009524	G	C	5009524	3	2	89	1	0	0	0	0	1	0	0	0	9701	1174	41	5	85	5	MMP26	11	5009524	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3929790	5009524	129996992	190	25556											
OR56A3	390083	genome.wustl.edu	37	chr11	5969263	5969263	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcattctgcgagctgtGctgagactcaaggcagaggg	9	9	13	10	1	3	2	2	1	1	2	3	4	3	2	1	2	3	3	1	2	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:5969263G>C	ENST00000329564.6	+	1	694	c.687G>C	c.(685-687)gtG>gtC	p.V229V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V229V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCGAGCTGTGCTGAGACTCA	0.512																																																	1	Substitution - coding silent(1)	lung(1)											202	197	198					11																	5969263		2186	4286	6472	SO:0001819	synonymous_variant	0				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"GPCR / Class A : Olfactory receptors"	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.687G>C	11.37:g.5969263G>C			A6NN77|Q6IFF7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V229	ENST00000329564.6	37	c.687	CCDS41614.1	11																																																																																			OR56A3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184478		0.512	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR56A3	HGNC	protein_coding	OTTHUMT00000383753.1	-	0	42	0	G	NM_001003443		5969263	1	tier1	-	no_errors	ENST00000329564	ensembl	human	known	74_37	silent	17.78	37	8	SNP	0.937	C	C	5969263	G	C	5969263	2	2	89	1	0	0	0	0	0	0	0	1	11173	1306	46	5		5	OR56A3	11	5969263	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	959739	5969263	129037253	191	25557											
COPB1	1315	genome.wustl.edu	37	chr11	14487906	14487906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtacatccaggacaatatCatattggttgacatgaacgt	15	11	8	7	1	1	2	1	2	0	0	2	3	2	3	1	2	2	2	1	2	6	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:14487906C>G	ENST00000249923.3	-	17	2512	c.2212G>C	c.(2212-2214)Gat>Cat	p.D738H	COPB1_ENST00000439561.2_Missense_Mutation_p.D738H	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	738					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGGACAATATCATATTGGTTG	0.383																																																	0													208	190	196					11																	14487906		2200	4294	6494	SO:0001583	missense	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2212G>C	11.37:g.14487906C>G	ENSP00000249923:p.Asp738His		D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.D738H	ENST00000249923.3	37	c.2212	CCDS7815.1	11	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875568	0.91664	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.56275	0.47;0.47	5.48	5.48	0.80851	Coatomer, beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81936	0.4928	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87259	0.2278	10	0.87932	D	0	.	19.3415	0.94344	0.0:1.0:0.0:0.0	.	738	P53618	COPB_HUMAN	H	738	ENSP00000249923:D738H;ENSP00000397873:D738H	ENSP00000249923:D738H	D	-	1	0	COPB1	14444482	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.576000	0.86940	0.655000	0.94253	GAT	COPB1	-	pfam_Coatomer_bsu_C,pirsf_COPB1	ENSG00000129083		0.383	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0	57	0	C	NM_016451		14487906	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	missense	12.16	65	9	SNP	1.000	G	G	14487906	C	G	14487906	3	3	89	1	0	0	0	0	1	0	0	0	3735	826	29	5	673	5	COPB1	11	14487906	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	8518643	14487906	120518610	192	25558											
SERGEF	26297	genome.wustl.edu	37	chr11	18014501	18014501	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaatgaagctgagtggtctGagccagcaagaacacacatt	14	9	10	8	0	1	4	0	3	1	1	1	4	1	4	1	1	4	2	1	1	4	2	rs552461036		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:18014501G>C	ENST00000265965.5	-	7	813	c.662C>G	c.(661-663)tCa>tGa	p.S221*	SERGEF_ENST00000528200.1_Nonsense_Mutation_p.S221*|SERGEF_ENST00000532265.1_Nonsense_Mutation_p.S107*	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	221					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TGAGTGGTCTGAGCCAGCAAG	0.398																																																	0													125	111	116					11																	18014501		2200	4293	6493	SO:0001587	stop_gained	0			AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.662C>G	11.37:g.18014501G>C	ENSP00000265965:p.Ser221*		Q9UGK9	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.S221*	ENST00000265965.5	37	c.662	CCDS7828.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.94|15.94	2.980459|2.980459	0.53827|0.53827	.|.	.|.	ENSG00000129158|ENSG00000129158	ENST00000529151|ENST00000265965;ENST00000528200;ENST00000525920;ENST00000532265;ENST00000529728;ENST00000530613;ENST00000532389	.|.	.|.	.|.	5.19|5.19	4.27|4.27	0.50696|0.50696	.|.	.|0.135477	.|0.52532	.|D	.|0.000073	T|.	0.42314|.	0.1197|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.48822|.	-0.9001|.	3|.	.|0.11485	.|T	.|0.65	-5.9694|-5.9694	11.6372|11.6372	0.51211|0.51211	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	.|.	.|.	.|.	E|X	85|221;221;91;107;107;107;107	.|.	.|ENSP00000265965:S221X	Q|S	-|-	1|2	0|0	SERGEF|SERGEF	17971077|17971077	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.985000|0.985000	0.73830|0.73830	4.022000|4.022000	0.57203|0.57203	1.537000|1.537000	0.49254|0.49254	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SERGEF	-	superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000129158		0.398	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERGEF	HGNC	protein_coding	OTTHUMT00000389538.1	-	0	100	0	G	NM_012139		18014501	-1	tier1	-	no_errors	ENST00000265965	ensembl	human	known	74_37	nonsense	6.33	74	5	SNP	0.791	C	C	18014501	G	C	18014501	4	2	89	1	0	0	0	0	0	1	0	0	14122	1294	45	5	734	5	SERGEF	11	18014501	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3526595	18014501	116992015	193	25559											
TMEM86A	144110	genome.wustl.edu	37	chr11	18723435	18723435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacaaattctgttttcCtgtgccctactctcgggcgc	6	13	7	15	2	3	0	1	0	2	0	5	0	4	0	3	1	3	1	3	1	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:18723435C>T	ENST00000280734.2	+	3	698	c.602C>T	c.(601-603)cCt>cTt	p.P201L		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	201						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TTCTGTTTTCCTGTGCCCTAC	0.572																																																	0													104	89	95					11																	18723435		2199	4293	6492	SO:0001583	missense	0			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.602C>T	11.37:g.18723435C>T	ENSP00000280734:p.Pro201Leu		Q96AJ0	Missense_Mutation	SNP	pfam_YhhN	p.P201L	ENST00000280734.2	37	c.602	CCDS7844.1	11	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782950	0.49891	.	.	ENSG00000151117	ENST00000535380;ENST00000280734	T	0.24350	1.86	5.55	4.62	0.57501	.	0.109393	0.64402	N	0.000004	T	0.35393	0.0930	M	0.86178	2.8	0.80722	D	1	B	0.19331	0.035	B	0.24541	0.054	T	0.19647	-1.0299	9	.	.	.	-4.2971	13.7142	0.62687	0.0:0.9239:0.0:0.0761	.	201	Q8N2M4	TM86A_HUMAN	L	201	ENSP00000280734:P201L	.	P	+	2	0	TMEM86A	18680011	1.000000	0.71417	0.289000	0.24876	0.985000	0.73830	5.615000	0.67702	1.520000	0.48965	0.655000	0.94253	CCT	TMEM86A	-	pfam_YhhN	ENSG00000151117		0.572	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM86A	HGNC	protein_coding	OTTHUMT00000387812.1		0	33	0	C	NM_153347		18723435	1			no_errors	ENST00000280734	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.996	T	T	18723435	C	T	18723435	3	4	89	1	0	0	0	0	1	0	0	0	16255	681	24	3	612	3	TMEM86A	11	18723435	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	708934	18723435	116283081	194	25560											
LRRC4C	57689	genome.wustl.edu	37	chr11	40137176	40137176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcccagaaagatccagctCatctagttttatgagcggtg	11	12	9	9	1	2	3	1	1	1	2	4	3	4	3	2	1	2	2	2	1	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:40137176C>G	ENST00000278198.2	-	2	2630	c.667G>C	c.(667-669)Gag>Cag	p.E223Q	LRRC4C_ENST00000528697.1_Missense_Mutation_p.E223Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E223Q|LRRC4C_ENST00000527150.1_Missense_Mutation_p.E223Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	223					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGATCCAGCTCATCTAGTTTT	0.463																																																	0													82	81	81					11																	40137176		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"Immunoglobulin superfamily / I-set domain containing"	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.667G>C	11.37:g.40137176C>G	ENSP00000278198:p.Glu223Gln		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E223Q	ENST00000278198.2	37	c.667	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974866	0.53720	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.41492	1.28	0.80722	D	1	D	0.60160	0.987	P	0.56088	0.791	T	0.18999	-1.0319	10	0.26408	T	0.33	.	18.2645	0.90048	0.0:1.0:0.0:0.0	.	223	Q9HCJ2	LRC4C_HUMAN	Q	223	ENSP00000278198:E223Q;ENSP00000436976:E223Q;ENSP00000437132:E223Q;ENSP00000434761:E223Q	ENSP00000278198:E223Q	E	-	1	0	LRRC4C	40093752	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.818000	0.86416	2.561000	0.86390	0.650000	0.86243	GAG	LRRC4C	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000148948		0.463	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0	33	0	C	NM_020929		40137176	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	G	G	40137176	C	G	40137176	3	3	89	1	0	0	0	0	1	0	0	0	9043	835	29	5	1259	5	LRRC4C	11	40137176	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	21413741	40137176	94869340	195	25561											
ACCSL	390110	genome.wustl.edu	37	chr11	44074280	44074280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgcctgtatgcaaaggttGagttgattcctgtccacctg	7	12	10	12	1	0	2	0	2	0	0	2	2	2	2	5	1	1	4	5	1	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:44074280G>A	ENST00000378832.1	+	6	897	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	281					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGCAAAGGTTGAGTTGATTCC	0.542																																																	0													241	236	238					11																	44074280		1957	4147	6104	SO:0001583	missense	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.841G>A	11.37:g.44074280G>A	ENSP00000368109:p.Glu281Lys			Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.E281K	ENST00000378832.1	37	c.841	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660606	0.29515	.	.	ENSG00000205126	ENST00000378832	D	0.90676	-2.71	5.49	2.51	0.30379	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.280089	0.39544	N	0.001335	T	0.76673	0.4020	N	0.11064	0.09	0.30381	N	0.781968	B	0.14012	0.009	B	0.21360	0.034	T	0.65376	-0.6183	10	0.22706	T	0.39	-19.1827	4.4994	0.11856	0.2704:0.1762:0.5534:0.0	.	281	Q4AC99	1A1L2_HUMAN	K	281	ENSP00000368109:E281K	ENSP00000368109:E281K	E	+	1	0	ACCSL	44030856	0.994000	0.37717	0.013000	0.15412	0.017000	0.09413	2.312000	0.43726	0.890000	0.36211	0.655000	0.94253	GAG	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000205126		0.542	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	-	0	82	0	G	NM_001031854		44074280	1	tier1	-	no_errors	ENST00000378832	ensembl	human	known	74_37	missense	5.56	84	5	SNP	0.560	A	A	44074280	G	A	44074280	3	1	89	1	0	0	0	0	1	0	0	0	134	1291	45	3	863	3	ACCSL	11	44074280	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3937104	44074280	90932236	196	25562											
FOLH1	2346	genome.wustl.edu	37	chr11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcctctgcaattccaCgcctataagcatattctgaa	13	10	5	13	1	2	1	0	1	2	0	3	1	3	1	3	0	4	2	3	0	6	5	rs116795343	byFrequency	TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																																	1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.R281H	ENST00000256999.2	37	c.842	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT	FOLH1	-	NULL	ENSG00000086205		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	141	0	C	NM_004476		49204779	-1	tier1	rs116795343	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	5.80	130	8	SNP	0.843	T	T	49204779	C	T	49204779	3	4	89	1	0	0	0	0	1	0	0	0	6001	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5130499	49204779	85801737	197	25563											
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	114	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	7.81	118	10	SNP	1.000	G	G	49204790	A	G	49204790	2	3	89	1	0	0	0	0	0	0	0	1	6001	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	11	49204790	85801726	198	25564											
OR5T1	390155	genome.wustl.edu	37	chr11	56044027	56044027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccatcatctacagtttgCggaacaaagatgtaaaggag	15	9	9	8	1	2	1	1	0	1	1	3	3	3	3	1	2	3	2	1	2	5	3	rs374592813	byFrequency	TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:56044027C>T	ENST00000313033.2	+	1	999	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R305W(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTACAGTTTGCGGAACAAAGA	0.338													c|||	4	0.000798722	0.0015	0	5008	,	,		20909	0		0	False		,,,				2504	0.002																1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	99	94	95		913	2.5	1	11		95	0,8592		0,0,4296	no	missense	OR5T1	NM_001004745.1	101	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	305/327	56044027	1,12993	2201	4296	6497	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.913C>T	11.37:g.56044027C>T	ENSP00000323612:p.Arg305Trp		B2RNM9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R305W	ENST00000313033.2	37	c.913	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707520	0.48412	2.27E-4	0.0	ENSG00000181698	ENST00000313033	T	0.41065	1.01	3.63	2.48	0.30137	.	0.000000	0.52532	D	0.000078	T	0.66877	0.2834	M	0.92026	3.265	0.20307	N	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.58864	-0.7561	10	0.87932	D	0	.	8.4943	0.33119	0.8021:0.1979:0.0:0.0	.	305	Q8NG75	OR5T1_HUMAN	W	305	ENSP00000323612:R305W	ENSP00000323612:R305W	R	+	1	2	OR5T1	55800603	0.132000	0.22450	1.000000	0.80357	0.953000	0.61014	1.223000	0.32527	0.576000	0.29452	-0.607000	0.04081	CGG	OR5T1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000181698		0.338	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1		0	56	0	C	NM_001004745		56044027	1			no_errors	ENST00000313033	ensembl	human	known	74_37	missense	16.13	52	10	SNP	0.475	T	T	56044027	C	T	56044027	3	4	89	1	0	0	0	0	1	0	0	0	11220	759	27	1	915	1	OR5T1	11	56044027	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	6839237	56044027	78962489	199	25565											
GPR44	11251	genome.wustl.edu	37	chr11	60621068	60621068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccaccaggcccagcagcGaggccagcccgtgcagcagc	8	3	12	18	2	1	0	0	0	1	0	2	1	1	0	5	2	6	3	5	2	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:60621068G>A	ENST00000332539.4	-	2	239	c.128C>T	c.(127-129)tCg>tTg	p.S43L	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	43					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	GCCCAGCAGCGAGGCCAGCCC	0.667																																																	0													46	37	40					11																	60621068		2182	4261	6443	SO:0001583	missense	0			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.128C>T	11.37:g.60621068G>A	ENSP00000332812:p.Ser43Leu		O94765|Q4QRI6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt	p.S43L	ENST00000332539.4	37	c.128	CCDS7994.1	11	.	.	.	.	.	.	.	.	.	.	G	8.731	0.916739	0.17907	.	.	ENSG00000183134	ENST00000332539	T	0.37752	1.18	4.63	0.127	0.14727	.	0.217679	0.30028	U	0.010597	T	0.17534	0.0421	N	0.12569	0.235	0.09310	N	1	P	0.51240	0.943	B	0.35240	0.198	T	0.16600	-1.0397	10	0.33940	T	0.23	.	16.1475	0.81580	0.0:0.6453:0.3547:0.0	.	43	Q9Y5Y4	GPR44_HUMAN	L	43	ENSP00000332812:S43L	ENSP00000332812:S43L	S	-	2	0	GPR44	60377644	0.000000	0.05858	0.004000	0.12327	0.247000	0.25773	0.252000	0.18278	-0.142000	0.11354	-0.304000	0.09214	TCG	PTGDR2	-	prints_GPCR_Rhodpsn	ENSG00000183134		0.667	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR2	HGNC	protein_coding	OTTHUMT00000396328.1	-	0	67	0	G	NM_004778		60621068	-1	tier1	-	no_errors	ENST00000332539	ensembl	human	known	74_37	missense	7.22	90	7	SNP	0.002	A	A	60621068	G	A	60621068	3	1	89	1	0	0	0	0	1	0	0	0	6721	1059	37	1	1063	1	GPR44	11	60621068	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4577041	60621068	74385448	200	25566											
SPDYC	387778	genome.wustl.edu	37	chr11	64940167	64940167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctcccaggtcatggcaaagGagccattccactgggcttgg	8	8	12	13	0	1	0	1	0	0	0	3	1	3	1	4	5	1	2	4	5	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:64940167G>C	ENST00000377185.2	+	6	611	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CATGGCAAAGGAGCCATTCCA	0.657																																																	0													45	46	46					11																	64940167		2201	4297	6498	SO:0001583	missense	0			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.529G>C	11.37:g.64940167G>C	ENSP00000366390:p.Glu177Gln			Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.E177Q	ENST00000377185.2	37	c.529	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890482	0.52014	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.43	1.23	0.21249	.	0.234064	0.28047	N	0.016820	T	0.30135	0.0755	L	0.35723	1.085	0.09310	N	1	B	0.24768	0.111	B	0.30495	0.116	T	0.26883	-1.0090	9	0.15066	T	0.55	.	10.0449	0.42180	0.0747:0.3866:0.5387:0.0	.	177	Q5MJ68	SPDYC_HUMAN	Q	177	.	ENSP00000366390:E177Q	E	+	1	0	SPDYC	64696743	0.870000	0.30015	0.000000	0.03702	0.967000	0.64934	1.055000	0.30467	-0.022000	0.13986	0.655000	0.94253	GAG	SPDYC	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000204710		0.657	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	-	0	128	0	G	NM_001008778		64940167	1	tier1	-	no_errors	ENST00000377185	ensembl	human	known	74_37	missense	13.95	74	12	SNP	0.046	C	C	64940167	G	C	64940167	3	2	89	1	0	0	0	0	1	0	0	0	15075	1175	41	5	551	5	SPDYC	11	64940167	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4319099	64940167	70066349	201	25567											
DKFZp761E198	91056	genome.wustl.edu	37	chr11	65546631	65546631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgccgcaagccagccaGcagctcttccaggtagtgcc	7	6	11	17	2	1	0	0	0	1	0	2	0	2	0	6	1	6	5	6	1	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:65546631G>A	ENST00000532090.2	-	2	1543	c.1333C>T	c.(1333-1335)Ctg>Ttg	p.L445L		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	445					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						AAGCCAGCCAGCAGCTCTTCC	0.667																																																	0													11	14	13					11																	65546631		1910	4092	6002	SO:0001819	synonymous_variant	0			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1333C>T	11.37:g.65546631G>A			A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	NULL	p.L445	ENST00000532090.2	37	c.1333	CCDS58146.1	11																																																																																			AP5B1	-	NULL	ENSG00000254470		0.667	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	-	0	42	0	G	NM_138368		65546631	-1	tier1	-	no_errors	ENST00000532090	ensembl	human	novel	74_37	silent	9.30	39	4	SNP	0.998	A	A	65546631	G	A	65546631	2	1	89	1	0	0	0	0	0	0	0	1	4557	962	34	3		3	DKFZp761E198	11	65546631	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	606464	65546631	69459885	202	25568											
MYEOV	26579	genome.wustl.edu	37	chr11	69063413	69063413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgggcgttgctcacctgGgagaagcctttagagtgggc	6	10	17	8	1	1	2	1	0	0	2	1	3	1	2	2	4	2	2	2	4	2	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:69063413G>A	ENST00000308946.3	+	3	946	c.496G>A	c.(496-498)Gga>Aga	p.G166R	MYEOV_ENST00000441339.2_Missense_Mutation_p.G166R|MYEOV_ENST00000535407.1_Missense_Mutation_p.G108R	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	166										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGCTCACCTGGGAGAAGCCTT	0.592																																																	0													220	211	214					11																	69063413		2200	4294	6494	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.496G>A	11.37:g.69063413G>A	ENSP00000308330:p.Gly166Arg		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.G166R	ENST00000308946.3	37	c.496	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	G	9.124	1.009648	0.19277	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.28895	1.61;1.61;1.59	1.44	-1.96	0.07525	.	.	.	.	.	T	0.15869	0.0382	N	0.08118	0	0.09310	N	1	D	0.56035	0.974	P	0.45856	0.495	T	0.15780	-1.0425	9	0.87932	D	0	.	5.1807	0.15158	0.5778:0.0:0.4222:0.0	.	166	Q96EZ4	MYEOV_HUMAN	R	166;166;108	ENSP00000412482:G166R;ENSP00000308330:G166R;ENSP00000438100:G108R	ENSP00000308330:G166R	G	+	1	0	MYEOV	68819989	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.038000	0.12144	-0.680000	0.05211	0.436000	0.28706	GGA	MYEOV	-	NULL	ENSG00000172927		0.592	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1	-	0	69	0	G			69063413	1	tier1	-	no_errors	ENST00000308946	ensembl	human	known	74_37	missense	79.26	45	172	SNP	0.000	A	A	69063413	G	A	69063413	3	1	89	1	0	0	0	0	1	0	0	0	10063	1233	43	3	502	3	MYEOV	11	69063413	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3516782	69063413	65943103	203	25569											
FCHSD2	9873	genome.wustl.edu	37	chr11	72700022	72700022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacatactttgcctcgatgtCagctttctctcgtactgcat	7	15	6	13	2	2	0	1	0	1	0	5	1	2	0	1	0	5	3	1	0	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:72700022C>T	ENST00000409418.4	-	6	891	c.508G>A	c.(508-510)Gac>Aac	p.D170N	FCHSD2_ENST00000311172.7_Missense_Mutation_p.D114N|FCHSD2_ENST00000458644.2_Missense_Mutation_p.D10N|FCHSD2_ENST00000409853.1_Missense_Mutation_p.D114N|FCHSD2_ENST00000409314.1_Missense_Mutation_p.D170N	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	170										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GCCTCGATGTCAGCTTTCTCT	0.338																																																	0													205	172	183					11																	72700022		2198	4291	6489	SO:0001583	missense	0			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.508G>A	11.37:g.72700022C>T	ENSP00000386722:p.Asp170Asn		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.D170N	ENST00000409418.4	37	c.508	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931982	0.92389	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.50277	2.36;2.44;2.41;2.09;0.75	5.5	5.5	0.81552	.	0.055354	0.64402	D	0.000001	T	0.63141	0.2486	M	0.64997	1.995	0.80722	D	1	D;D;D	0.71674	0.998;0.976;0.976	P;P;P	0.59825	0.864;0.631;0.677	T	0.59794	-0.7387	10	0.35671	T	0.21	-6.588	18.3847	0.90463	0.0:1.0:0.0:0.0	.	10;170;114	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	N	114;170;170;10;114	ENSP00000308978:D114N;ENSP00000386987:D170N;ENSP00000386722:D170N;ENSP00000402972:D10N;ENSP00000386314:D114N	ENSP00000308978:D114N	D	-	1	0	FCHSD2	72377670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.589000	0.87451	0.462000	0.41574	GAC	FCHSD2	-	NULL	ENSG00000137478		0.338	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	-	0	60	0	C	NM_014824		72700022	-1	tier1	-	no_errors	ENST00000409418	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	T	T	72700022	C	T	72700022	3	4	89	1	0	0	0	0	1	0	0	0	5812	826	29	3	1774	3	FCHSD2	11	72700022	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3636609	72700022	62306494	204	25570											
ARHGEF17	9828	genome.wustl.edu	37	chr11	73020556	73020556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcggccaccgctggggaggGaggcccgggctcaggcctgg	4	3	21	13	3	1	0	1	0	0	0	1	2	1	2	4	9	0	2	4	9	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:73020556G>A	ENST00000263674.3	+	1	1223	c.873G>A	c.(871-873)ggG>ggA	p.G291G	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	291					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTGGGGAGGGAGGCCCGGGC	0.657																																																	0													22	29	27					11																	73020556		2176	4276	6452	SO:0001819	synonymous_variant	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"Rho guanine nucleotide exchange factors"	21726	protein-coding gene	gene with protein product	"Rho-specific guanine-nucleotide exchange factor 164 kDa", "tumor endothelial marker 4"					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.873G>A	11.37:g.73020556G>A			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.G291	ENST00000263674.3	37	c.873	CCDS8221.1	11																																																																																			ARHGEF17	-	NULL	ENSG00000110237		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	-	0	30	0	G	NM_014786		73020556	1	tier1	-	no_errors	ENST00000263674	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.751	A	A	73020556	G	A	73020556	2	1	89	1	0	0	0	0	0	0	0	1	900	1161	41	3		3	ARHGEF17	11	73020556	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	320534	73020556	61985960	205	25571											
BIRC3	330	genome.wustl.edu	37	chr11	102201960	102201960	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagagaaagagcaactgagGaaaaagaatcaagtatgtag	21	5	12	3	0	1	5	1	1	0	4	1	7	1	6	0	1	2	3	0	1	8	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:102201960G>T	ENST00000263464.3	+	6	4062	c.1312G>T	c.(1312-1314)Gaa>Taa	p.E438*	BIRC3_ENST00000532808.1_Nonsense_Mutation_p.E438*	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	438					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		AGCAACTGAGGAAAAAGAATC	0.318			T	MALT1	MALT																																			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													64	72	69					11																	102201960		2203	4299	6502	SO:0001587	stop_gained	0			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"Baculoviral IAP repeat containing", "RING-type (C3HC4) zinc fingers"	591	protein-coding gene	gene with protein product	"apoptosis inhibitor 2", "TNFR2-TRAF signaling complex protein", "mammalian IAP homolog C", "inhibitor of apoptosis protein 1"	601721	"baculoviral IAP repeat-containing 3"	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1312G>T	11.37:g.102201960G>T	ENSP00000263464:p.Glu438*		Q16628|Q9HC27|Q9UP46	Nonsense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.E438*	ENST00000263464.3	37	c.1312	CCDS8315.1	11	.	.	.	.	.	.	.	.	.	.	G	37	5.987186	0.97173	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	.	.	.	5.31	4.4	0.53042	.	0.133205	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.2246	0.65850	0.0717:0.0:0.9283:0.0	.	.	.	.	X	438	.	ENSP00000263464:E438X	E	+	1	0	BIRC3	101707170	1.000000	0.71417	0.688000	0.30117	0.768000	0.43524	7.229000	0.78088	1.469000	0.48083	0.585000	0.79938	GAA	BIRC3	-	NULL	ENSG00000023445		0.318	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	HGNC	protein_coding	OTTHUMT00000394159.1	-	0	84	0	G	NM_001165		102201960	1	tier1	-	no_errors	ENST00000263464	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	1.000	T	T	102201960	G	T	102201960	4	4	89	1	0	0	0	0	0	1	0	0	1438	1175	41	3	1330	3	BIRC3	11	102201960	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	29181404	102201960	32804556	206	25572											
CWF19L2	143884	genome.wustl.edu	37	chr11	107207409	107207409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtctaatcctttatcttCaaacatctttaccaatgatt	12	16	3	10	0	4	1	1	1	3	0	5	1	5	1	2	0	2	1	2	0	5	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:107207409C>G	ENST00000282251.5	-	15	2260	c.2233G>C	c.(2233-2235)Gaa>Caa	p.E745Q		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	745							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCTTTATCTTCAAACATCTTT	0.303																																																	0													72	68	70					11																	107207409		2199	4297	6496	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2233G>C	11.37:g.107207409C>G	ENSP00000282251:p.Glu745Gln		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.E745Q	ENST00000282251.5	37	c.2233	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791503	0.50102	.	.	ENSG00000152404	ENST00000282251;ENST00000409771	T	0.10668	2.85	5.48	3.56	0.40772	Histidine triad motif (1);Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.044377	0.85682	D	0.000000	T	0.15825	0.0381	L	0.52126	1.63	0.80722	D	1	B	0.26547	0.152	B	0.36766	0.232	T	0.03306	-1.1050	10	0.40728	T	0.16	-23.1044	15.4186	0.74991	0.0:0.7368:0.2632:0.0	.	745	Q2TBE0	C19L2_HUMAN	Q	745;3	ENSP00000282251:E745Q	ENSP00000282251:E745Q	E	-	1	0	CWF19L2	106712619	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.893000	0.63199	0.752000	0.32923	0.655000	0.94253	GAA	CWF19L2	-	pfam_Cwf19-like_C_dom-1,superfamily_HIT-like	ENSG00000152404		0.303	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0	60	0	C	NM_152434		107207409	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	G	G	107207409	C	G	107207409	3	3	89	1	0	0	0	0	1	0	0	0	4081	835	29	5	467	5	CWF19L2	11	107207409	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5005449	107207409	27799107	207	25573											
ATM	472	genome.wustl.edu	37	chr11	108216597	108216597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctatttggtttgagaagcGattggcttatacgcgcagtg	9	13	13	6	3	0	1	0	1	0	1	0	3	0	1	0	2	3	4	0	2	4	6	rs587782202		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:108216597G>A	ENST00000452508.2	+	59	8735	c.8546G>A	c.(8545-8547)cGa>cAa	p.R2849Q	ATM_ENST00000278616.4_Missense_Mutation_p.R2849Q|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2849	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		R -> P (in AT). {ECO:0000269|PubMed:9887333}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTGAGAAGCGATTGGCTTAT	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0			GRCh37	CM990219	ATM	M							150	154	153					11																	108216597		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8546G>A	11.37:g.108216597G>A	ENSP00000388058:p.Arg2849Gln		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2849Q	ENST00000452508.2	37	c.8546	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.858083	0.97036	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83992	-1.79;-1.79	5.54	5.54	0.83059	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.73372	2.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91565	0.5267	10	0.87932	D	0	.	19.4688	0.94954	0.0:0.0:1.0:0.0	.	2849	Q13315	ATM_HUMAN	Q	2849	ENSP00000278616:R2849Q;ENSP00000388058:R2849Q	ENSP00000278616:R2849Q	R	+	2	0	ATM	107721807	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.847000	0.99503	2.594000	0.87642	0.650000	0.86243	CGA	ATM	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	89	0	G	NM_000051		108216597	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	7.95	81	7	SNP	1.000	A	A	108216597	G	A	108216597	3	1	89	1	0	0	0	0	1	0	0	0	1110	1058	37	1	8772	1	ATM	11	108216597	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1009188	108216597	26789919	208	25574											
RNF214	257160	genome.wustl.edu	37	chr11	117117537	117117537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactcaggagatattaaagGctattcaggatgtgacaata	16	10	10	5	0	2	2	2	1	0	1	2	5	2	3	0	3	1	1	0	3	7	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:117117537G>T	ENST00000531452.1	+	6	878	c.832G>T	c.(832-834)Gct>Tct	p.A278S	RNF214_ENST00000531287.1_Missense_Mutation_p.A123S|RNF214_ENST00000300650.4_Missense_Mutation_p.A278S|RNF214_ENST00000530849.1_Missense_Mutation_p.A123S	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	278							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GATATTAAAGGCTATTCAGGA	0.348																																																	0													202	198	200					11																	117117537		1842	4083	5925	SO:0001583	missense	0			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"RING-type (C3HC4) zinc fingers"	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.832G>T	11.37:g.117117537G>T	ENSP00000431643:p.Ala278Ser		B2RUW0|B4DTD1	Missense_Mutation	SNP	pfscan_Znf_RING	p.A278S	ENST00000531452.1	37	c.832	CCDS41720.1	11	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526783	0.44969	.	.	ENSG00000167257	ENST00000531287;ENST00000531452;ENST00000530849;ENST00000300650	T;T;T;T	0.39592	2.58;1.07;1.07;1.07	5.84	5.84	0.93424	.	0.210084	0.41823	D	0.000806	T	0.39545	0.1082	L	0.46157	1.445	0.36872	D	0.888942	P;P	0.44946	0.518;0.846	B;P	0.45310	0.303;0.476	T	0.26916	-1.0089	10	0.09843	T	0.71	-6.3008	14.0188	0.64541	0.0:0.0:0.8491:0.1509	.	123;278	B4DTD1;Q8ND24	.;RN214_HUMAN	S	123;278;123;278	ENSP00000435361:A123S;ENSP00000431643:A278S;ENSP00000432903:A123S;ENSP00000300650:A278S	ENSP00000300650:A278S	A	+	1	0	RNF214	116622747	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.719000	0.61937	2.764000	0.94973	0.655000	0.94253	GCT	RNF214	-	NULL	ENSG00000167257		0.348	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1	-	0	59	0	G	NM_001077239		117117537	1	tier1	-	no_errors	ENST00000300650	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	117117537	G	T	117117537	3	4	89	1	0	0	0	0	1	0	0	0	13523	1203	42	3	850	3	RNF214	11	117117537	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	8900940	117117537	17888979	209	25575											
CEP164	22897	genome.wustl.edu	37	chr11	117222658	117222658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagaagaagaaaaaaaaaaAggaaaagaaagacaagaagg	29	1	10	1	0	0	6	0	0	0	6	0	7	0	7	0	2	0	0	0	2	13	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr11:117222658A>G	ENST00000278935.3	+	5	494	c.347A>G	c.(346-348)aAg>aGg	p.K116R		NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	116	Interaction with ATRIP.|Lys-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		aaaaaaaaaaaggaaaagaaa	0.502																																																	0													33	34	34					11																	117222658		2201	4296	6497	SO:0001583	missense	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.347A>G	11.37:g.117222658A>G	ENSP00000278935:p.Lys116Arg		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.K116R	ENST00000278935.3	37	c.347	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744661	0.49151	.	.	ENSG00000110274	ENST00000533153;ENST00000278935;ENST00000525416;ENST00000545330;ENST00000533570;ENST00000529538	T;T;T;T	0.76060	-0.34;-0.03;-0.29;-0.99	5.95	4.82	0.62117	.	0.243999	0.29172	N	0.012934	T	0.80221	0.4583	M	0.62723	1.935	0.34770	D	0.733632	D;P;B;D	0.56521	0.959;0.482;0.023;0.976	P;B;B;P	0.56960	0.65;0.11;0.01;0.81	D	0.85776	0.1358	10	0.62326	D	0.03	-27.2573	11.2799	0.49188	0.9276:0.0:0.0724:0.0	.	116;70;116;116	E9PI34;B7Z884;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	R	70;116;70;70;116;116	ENSP00000436034:K70R;ENSP00000278935:K116R;ENSP00000435759:K70R;ENSP00000431302:K116R	ENSP00000278935:K116R	K	+	2	0	CEP164	116727868	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	8.713000	0.91408	1.068000	0.40764	0.533000	0.62120	AAG	CEP164	-	NULL	ENSG00000110274		0.502	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1		0	102	0	A	NM_014956		117222658	1			no_errors	ENST00000278935	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	G	G	117222658	A	G	117222658	3	3	89	1	0	0	0	0	1	0	0	0	3256	72	3	4	357	4	CEP164	11	117222658	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	105121	117222658	17783858	210	25576											
ANO2	57101	genome.wustl.edu	37	chr12	5841762	5841762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctcctttagcattttctctCgaactttggtttcatactca	7	19	4	11	1	4	0	2	0	2	0	7	1	4	0	1	1	3	2	1	1	3	7	rs375457985		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:5841762C>G	ENST00000356134.5	-	16	1543	c.1472G>C	c.(1471-1473)cGa>cCa	p.R491P	ANO2_ENST00000546188.1_Missense_Mutation_p.R491P|ANO2_ENST00000327087.8_Missense_Mutation_p.R490P|ANO2_ENST00000538154.1_5'UTR	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	495					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATTTTCTCTCGAACTTTGGT	0.448																																																	0													108	103	105					12																	5841762		1980	4163	6143	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1472G>C	12.37:g.5841762C>G	ENSP00000348453:p.Arg491Pro		C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.R491P	ENST00000356134.5	37	c.1472		12	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243928	0.58995	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000545860	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.84	4.84	0.62591	.	0.064980	0.64402	D	0.000006	T	0.48677	0.1513	N	0.02685	-0.53	0.36347	D	0.859871	P	0.52692	0.955	P	0.53006	0.715	T	0.58787	-0.7575	10	0.25751	T	0.34	.	15.4822	0.75537	0.0:1.0:0.0:0.0	.	490	Q9NQ90-3	.	P	490;491;491;495;50	ENSP00000314048:R490P;ENSP00000348453:R491P;ENSP00000440981:R491P;ENSP00000443813:R50P	ENSP00000314048:R490P	R	-	2	0	ANO2	5712023	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.866000	0.56040	2.507000	0.84556	0.655000	0.94253	CGA	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.448	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0	106	0	C	NM_020373		5841762	-1	tier1	-	no_errors	ENST00000356134	ensembl	human	known	74_37	missense	14.75	104	18	SNP	0.999	G	G	5841762	C	G	5841762	3	3	89	1	0	0	0	0	1	0	0	0	697	884	31	5	1575	5	ANO2	12	5841762	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		5841762	128010133	211	25577											
ZNF384	171017	genome.wustl.edu	37	chr12	6787385	6787385	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcagccctgattccagcatCcgcttcttcttccggccccg	4	10	9	18	3	2	1	0	1	2	0	5	1	5	1	6	2	2	3	6	2	0	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:6787385C>G	ENST00000396801.3	-	6	801	c.594G>C	c.(592-594)cgG>cgC	p.R198R	ZNF384_ENST00000319770.3_Silent_p.R182R|ZNF384_ENST00000396795.1_Silent_p.R198R|ZNF384_ENST00000355772.4_Silent_p.R143R|ZNF384_ENST00000396799.2_Silent_p.R198R|ZNF384_ENST00000361959.3_Silent_p.R198R	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	198					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						ATTCCAGCATCCGCTTCTTCT	0.577			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													103	102	103					12																	6787385		2203	4300	6503	SO:0001819	synonymous_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.594G>C	12.37:g.6787385C>G			O15407|Q7Z722|Q8N938	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R198	ENST00000396801.3	37	c.594	CCDS44817.1	12																																																																																			ZNF384	-	NULL	ENSG00000126746		0.577	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1		0	49	0	C			6787385	-1			no_errors	ENST00000361959	ensembl	human	known	74_37	silent	9.68	28	3	SNP	1.000	G	G	6787385	C	G	6787385	2	3	89	1	0	0	0	0	0	0	0	1	17923	842	30	5		5	ZNF384	12	6787385	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	945623	6787385	127064510	212	25578											
ZNF705A	440077	genome.wustl.edu	37	chr12	8329832	8329832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcctatactaattgctttCgccttagacggcacaagatg	11	11	9	10	2	0	2	0	0	0	2	1	2	0	2	2	2	2	2	2	2	5	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:8329832C>T	ENST00000359286.4	+	5	645	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C	FAM66C_ENST00000544214.1_RNA|FAM66C_ENST00000456135.2_RNA|FAM66C_ENST00000454799.2_RNA	NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	186			R -> H (in dbSNP:rs11043758).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TAATTGCTTTCGCCTTAGACG	0.388																																																	0													86	87	86					12																	8329832		2198	4290	6488	SO:0001583	missense	0			AK131339	CCDS31737.1	12p13.31	2014-02-12	2005-09-22		ENSG00000196946	ENSG00000196946		"Zinc fingers, C2H2-type", "-"	32281	protein-coding gene	gene with protein product							Standard	NM_001004328		Approved	FLJ16353	uc001qud.1	Q6ZN79	OTTHUMG00000168635	ENST00000359286.4:c.556C>T	12.37:g.8329832C>T	ENSP00000352233:p.Arg186Cys			Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R186C	ENST00000359286.4	37	c.556	CCDS31737.1	12	.	.	.	.	.	.	.	.	.	.	.	1.393	-0.580312	0.03854	.	.	ENSG00000196946	ENST00000396570;ENST00000359286	T;T	0.08102	3.13;3.13	1.35	-1.48	0.08745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.20530	0.585	0.09310	N	1	P	0.35050	0.482	B	0.20384	0.029	T	0.41752	-0.9491	8	.	.	.	.	3.1487	0.06480	0.5658:0.2536:0.1806:0.0	.	186	Q6ZN79	Z705A_HUMAN	C	186	ENSP00000379816:R186C;ENSP00000352233:R186C	.	R	+	1	0	ZNF705A	8221099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.219000	0.02973	-0.408000	0.07565	-0.755000	0.03482	CGC	ZNF705A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196946		0.388	ZNF705A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF705A	HGNC	protein_coding	OTTHUMT00000400449.1		0	271	0	C	NM_001004328		8329832	1			no_errors	ENST00000359286	ensembl	human	known	74_37	missense	5.58	220	13	SNP	0.000	T	T	8329832	C	T	8329832	3	4	89	1	0	0	0	0	1	0	0	0	18156	884	31	1	574	1	ZNF705A	12	8329832	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1542447	8329832	125522063	213	25579											
PPFIBP1	8496	genome.wustl.edu	37	chr12	27829365	27829365	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatttgcctctcaggacaGagctccggcagaaagcaggc	10	8	11	12	1	1	2	1	0	1	2	3	3	2	3	2	3	3	3	2	3	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:27829365G>C	ENST00000318304.8	+	18	1749	c.1466G>C	c.(1465-1467)aGa>aCa	p.R489T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R458T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.R336T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R472T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	489					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTCAGGACAGAGCTCCGGCA	0.552																																																	0													59	61	61					12																	27829365		2203	4300	6503	SO:0001583	missense	0			AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"Sterile alpha motif (SAM) domain containing"	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1466G>C	12.37:g.27829365G>C	ENSP00000314724:p.Arg489Thr		O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R489T	ENST00000318304.8	37	c.1466	CCDS55812.1	12	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821156	0.16678	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425;ENST00000537261	T;T;T;T;T	0.29917	1.57;1.55;1.96;1.97;1.95	5.81	0.482	0.16815	.	0.779422	0.10490	U	0.668491	T	0.10809	0.0264	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.33085	-0.9882	10	0.22706	T	0.39	-15.0609	6.0093	0.19567	0.4498:0.3814:0.1688:0.0	.	336;489;472;458	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	T	320;336;489;458;472;164	ENSP00000444304:R320T;ENSP00000445425:R336T;ENSP00000314724:R489T;ENSP00000443442:R458T;ENSP00000228425:R472T	ENSP00000228425:R472T	R	+	2	0	PPFIBP1	27720632	0.936000	0.31750	0.168000	0.22838	0.044000	0.14063	1.154000	0.31688	0.445000	0.26639	-0.302000	0.09304	AGA	PPFIBP1	-	NULL	ENSG00000110841		0.552	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	-	0	43	0	G	NM_003622		27829365	1	tier1	-	no_errors	ENST00000318304	ensembl	human	known	74_37	missense	8.93	51	5	SNP	0.001	C	C	27829365	G	C	27829365	3	2	89	1	0	0	0	0	1	0	0	0	12352	942	33	5	1519	5	PPFIBP1	12	27829365	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	19499533	27829365	106022530	214	25580											
CAPRIN2	65981	genome.wustl.edu	37	chr12	30881712	30881712	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtttttgactctcaacaTtgttttcccaggattttgga	8	18	8	7	0	1	1	1	1	1	0	3	3	2	3	1	2	1	2	1	2	1	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:30881712T>A	ENST00000395805.2	-	8	2199	c.1652A>T	c.(1651-1653)aAt>aTt	p.N551I	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N551I|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.N551I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N218I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N551I	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTCTCAACATTGTTTTCCCA	0.463																																																	0													223	211	215					12																	30881712		2203	4300	6503	SO:0001583	missense	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1652A>T	12.37:g.30881712T>A	ENSP00000379150:p.Asn551Ile			Missense_Mutation	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.N551I	ENST00000395805.2	37	c.1652	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401464	0.42613	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.75154	2.43;-0.63;2.84;-0.62;-0.91;2.83;2.44	5.12	-6.51	0.01878	.	1.494320	0.03615	N	0.235458	T	0.62048	0.2396	N	0.14661	0.345	0.09310	N	1	P;P;P;P;B;B;B	0.49559	0.799;0.925;0.855;0.911;0.309;0.017;0.309	B;P;B;P;B;B;B	0.48840	0.387;0.592;0.289;0.483;0.047;0.009;0.064	T	0.61262	-0.7098	10	0.44086	T	0.13	0.0336	8.8471	0.35177	0.0:0.5056:0.1176:0.3768	.	551;277;551;551;551;551;551	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	I	297;551;551;551;218;551;277;470	ENSP00000415407:N297I;ENSP00000298892:N551I;ENSP00000379150:N551I;ENSP00000251071:N551I;ENSP00000309785:N218I;ENSP00000391479:N551I;ENSP00000438010:N470I	ENSP00000251071:N551I	N	-	2	0	CAPRIN2	30772979	0.000000	0.05858	0.000000	0.03702	0.677000	0.39632	-1.054000	0.03496	-1.236000	0.02542	-0.379000	0.06801	AAT	CAPRIN2	-	NULL	ENSG00000110888		0.463	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000403322.2	-	0	137	0	T	NM_023925		30881712	-1	tier1	-	no_errors	ENST00000251071	ensembl	human	known	74_37	missense	11.68	174	23	SNP	0.000	A	A	30881712	T	A	30881712	3	1	89	1	0	0	0	0	1	0	0	0	2643	1493	52	5	1775	5	CAPRIN2	12	30881712	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	3052347	30881712	102970183	215	25581											
KIF21A	55605	genome.wustl.edu	37	chr12	39696800	39696800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagttaagtcccatttCttgattccattatctctaga	9	19	5	8	0	2	3	0	2	2	1	5	3	4	3	2	0	0	1	2	0	3	8			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:39696800C>A	ENST00000361418.5	-	36	4713	c.4698G>T	c.(4696-4698)aaG>aaT	p.K1566N	KIF21A_ENST00000361961.3_Missense_Mutation_p.K1553N|KIF21A_ENST00000541463.2_Missense_Mutation_p.K1513N|KIF21A_ENST00000395670.3_Missense_Mutation_p.K1567N|KIF21A_ENST00000544797.2_Missense_Mutation_p.K1529N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1566					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGTCCCATTTCTTGATTCCAT	0.413																																																	0													160	148	152					12																	39696800		2203	4300	6503	SO:0001583	missense	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"Kinesins", "WD repeat domain containing"	19349	protein-coding gene	gene with protein product		608283	"fibrosis of the extraocular muscles, congenital, 1"	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4698G>T	12.37:g.39696800C>A	ENSP00000354878:p.Lys1566Asn		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.K1567N	ENST00000361418.5	37	c.4701	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.33|18.33	3.599736|3.599736	0.66332|0.66332	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	D;D;D;T;D;T|.	0.83163|.	-1.69;-1.69;-1.69;1.97;-1.69;-0.14|.	5.18|5.18	4.29|4.29	0.51040|0.51040	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.53938|.	D|.	0.000041|.	T|T	0.77592|0.77592	0.4153|0.4153	M|M	0.89095|0.89095	3.005|3.005	0.41833|0.41833	D|D	0.990081|0.990081	D;D;D;D;D;D|.	0.89917|.	1.0;0.998;0.998;1.0;1.0;1.0|.	D;P;D;D;D;D|.	0.91635|.	0.996;0.898;0.969;0.996;0.999;0.999|.	T|T	0.80944|0.80944	-0.1156|-0.1156	10|5	0.72032|.	D|.	0.01|.	.|.	10.5532|10.5532	0.45101|0.45101	0.0:0.8521:0.0:0.1479|0.0:0.8521:0.0:0.1479	.|.	1529;1513;1566;1553;1519;553|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8|.	.;.;KI21A_HUMAN;.;.;.|.	N|I	1553;1567;1519;553;547;1529;1566;1513|867	ENSP00000354851:K1553N;ENSP00000379029:K1567N;ENSP00000448792:K547N;ENSP00000445606:K1529N;ENSP00000354878:K1566N;ENSP00000438075:K1513N|.	ENSP00000344501:K1519N|.	K|R	-|-	3|2	2|0	KIF21A|KIF21A	37983067|37983067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.267000|1.267000	0.33050|0.33050	2.429000|2.429000	0.82318|0.82318	0.591000|0.591000	0.81541|0.81541	AAG|AGA	KIF21A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000139116		0.413	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	-	0	118	0	C	NM_017641		39696800	-1	tier1	-	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	8.33	77	7	SNP	1.000	A	A	39696800	C	A	39696800	3	1	89	1	0	0	0	0	1	0	0	0	8315	912	32	3	338	3	KIF21A	12	39696800	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	8815088	39696800	94155095	216	25582											
CNTN1	1272	genome.wustl.edu	37	chr12	41423007	41423007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatggagtggtgtctcAagtcaaaatttcaggtaagt	13	11	13	4	0	3	1	3	0	1	1	4	3	3	2	0	4	0	1	0	4	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:41423007A>G	ENST00000551295.2	+	23	3083	c.2966A>G	c.(2965-2967)cAa>cGa	p.Q989R	CNTN1_ENST00000348761.2_Missense_Mutation_p.Q978R|CNTN1_ENST00000347616.1_Missense_Mutation_p.Q989R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	989	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GTGGTGTCTCAAGTCAAAATT	0.458																																																	0													221	207	212					12																	41423007		2203	4300	6503	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2966A>G	12.37:g.41423007A>G	ENSP00000447006:p.Gln989Arg		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q989R	ENST00000551295.2	37	c.2966	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117896	0.56505	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.54071	0.59;0.59;0.59	5.27	5.27	0.74061	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.122786	0.56097	D	0.000025	T	0.55816	0.1944	M	0.74647	2.275	0.80722	D	1	B;B	0.18741	0.03;0.017	B;B	0.17979	0.02;0.009	T	0.57843	-0.7741	10	0.66056	D	0.02	.	15.513	0.75798	1.0:0.0:0.0:0.0	.	978;989	Q12860-2;Q12860	.;CNTN1_HUMAN	R	989;989;978	ENSP00000447006:Q989R;ENSP00000325660:Q989R;ENSP00000261160:Q978R	ENSP00000325660:Q989R	Q	+	2	0	CNTN1	39709274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.437000	0.73421	2.130000	0.65690	0.533000	0.62120	CAA	CNTN1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000018236		0.458	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	73	0	A	NM_001843		41423007	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	G	G	41423007	A	G	41423007	3	3	89	1	0	0	0	0	1	0	0	0	3647	130	5	4	3052	4	CNTN1	12	41423007	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	1726207	41423007	92428888	217	25583											
SLC38A1	81539	genome.wustl.edu	37	chr12	46594904	46594904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatgtcaagtagccaaaaAtggcagtcaagaagtacata	19	7	9	6	0	2	2	2	0	0	2	2	2	2	2	1	1	2	3	1	1	9	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:46594904A>G	ENST00000398637.5	-	13	1674	c.980T>C	c.(979-981)aTt>aCt	p.I327T	SLC38A1_ENST00000439706.1_Missense_Mutation_p.I327T|SLC38A1_ENST00000546893.1_Missense_Mutation_p.I327T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000549049.1_Missense_Mutation_p.I327T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.I327T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	327					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GTAGCCAAAAATGGCAGTCAA	0.274																																																	0													67	61	63					12																	46594904		1811	4079	5890	SO:0001583	missense	0			AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"Solute carriers"	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.980T>C	12.37:g.46594904A>G	ENSP00000381634:p.Ile327Thr		Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.I327T	ENST00000398637.5	37	c.980	CCDS41774.1	12	.	.	.	.	.	.	.	.	.	.	A	15.36	2.811572	0.50527	.	.	ENSG00000111371	ENST00000549049;ENST00000439706;ENST00000398637;ENST00000546893;ENST00000552197	T;T;T;T;T	0.02280	4.36;4.36;4.36;4.36;4.36	5.53	5.53	0.82687	.	0.089518	0.47455	D	0.000227	T	0.02848	0.0085	L	0.31578	0.945	0.41057	D	0.985343	B;P;B	0.35944	0.132;0.529;0.205	B;B;B	0.36922	0.065;0.236;0.155	T	0.64373	-0.6423	10	0.30854	T	0.27	-23.5861	15.6633	0.77206	1.0:0.0:0.0:0.0	.	327;327;327	B5MEC5;F8VX04;Q9H2H9	.;.;S38A1_HUMAN	T	327	ENSP00000449607:I327T;ENSP00000398142:I327T;ENSP00000381634:I327T;ENSP00000447853:I327T;ENSP00000449756:I327T	ENSP00000381634:I327T	I	-	2	0	SLC38A1	44881171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.090000	0.63153	0.455000	0.32223	ATT	SLC38A1	-	pfam_AA_transpt_TM	ENSG00000111371		0.274	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A1	HGNC	protein_coding	OTTHUMT00000404218.2	-	0	257	0	A			46594904	-1	tier1	-	no_errors	ENST00000398637	ensembl	human	known	74_37	missense	8.04	183	16	SNP	0.996	G	G	46594904	A	G	46594904	3	3	89	1	0	0	0	0	1	0	0	0	14646	101	4	4	503	4	SLC38A1	12	46594904	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	5171897	46594904	87256991	218	25584											
SENP1	29843	genome.wustl.edu	37	chr12	48491881	48491881	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	taaagtcacttctccagcatCcatcctcatcctatcagcaa	12	11	3	15	0	4	0	3	0	1	0	8	0	7	0	4	0	2	2	4	0	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:48491881C>G	ENST00000004980.5	-	3	509	c.31G>C	c.(31-33)Gat>Cat	p.D11H	SENP1_ENST00000339976.6_Missense_Mutation_p.D43H|SENP1_ENST00000547886.1_5'Flank|SENP1_ENST00000448372.1_Missense_Mutation_p.D11H|SENP1_ENST00000551330.1_Missense_Mutation_p.D11H|SENP1_ENST00000549518.1_Missense_Mutation_p.D11H|SENP1_ENST00000549595.1_Missense_Mutation_p.D11H			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	11					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TCTCCAGCATCCATCCTCATC	0.428																																																	0													86	92	90					12																	48491881		1947	4145	6092	SO:0001583	missense	0			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"SUMO1/sentrin specific protease 1"			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.31G>C	12.37:g.48491881C>G	ENSP00000004980:p.Asp11His		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D11H	ENST00000004980.5	37	c.31	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489335	0.64074	.	.	ENSG00000079387	ENST00000004980;ENST00000339976;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24	5.22	5.22	0.72569	.	0.341025	0.28538	N	0.014982	T	0.24431	0.0592	N	0.14661	0.345	0.34729	D	0.729595	D;D	0.69078	0.995;0.997	P;D	0.63877	0.831;0.919	T	0.24012	-1.0172	10	0.87932	D	0	-15.603	16.1836	0.81929	0.0:1.0:0.0:0.0	.	11;11	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	H	11;43;11;11;11;11;4	ENSP00000004980:D11H;ENSP00000394791:D11H;ENSP00000446681:D11H;ENSP00000450076:D11H;ENSP00000447328:D11H	ENSP00000004980:D11H	D	-	1	0	SENP1	46778148	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.918000	0.56432	2.885000	0.99019	0.655000	0.94253	GAT	SENP1	-	NULL	ENSG00000079387		0.428	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	-	0	130	0	C	NM_014554		48491881	-1	tier1	-	no_errors	ENST00000004980	ensembl	human	known	74_37	missense	10.71	150	18	SNP	1.000	G	G	48491881	C	G	48491881	3	3	89	1	0	0	0	0	1	0	0	0	14091	855	30	5	1964	5	SENP1	12	48491881	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1896977	48491881	85360014	219	25585											
ERBB3	2065	genome.wustl.edu	37	chr12	56495395	56495395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagatgaagatgaGgagtatgaatacatgaaccg	19	6	13	3	1	0	8	0	4	0	4	0	10	0	9	1	1	2	1	1	1	8	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:56495395G>T	ENST00000267101.3	+	28	4025	c.3585G>T	c.(3583-3585)gaG>gaT	p.E1195D	PA2G4_ENST00000303305.6_5'Flank|ERBB3_ENST00000549832.1_Missense_Mutation_p.E315D|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_Missense_Mutation_p.E552D|ERBB3_ENST00000553131.1_Missense_Mutation_p.E436D|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1136D|PA2G4_ENST00000552766.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1195					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATGAAGATGAGGAGTATGAAT	0.527																																																	0													93	88	90					12																	56495395		2203	4300	6503	SO:0001583	missense	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"lethal congenital contracture syndrome 2"	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3585G>T	12.37:g.56495395G>T	ENSP00000267101:p.Glu1195Asp		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E1195D	ENST00000267101.3	37	c.3585	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848121	0.32699	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288;ENST00000550070;ENST00000553131;ENST00000549832	T;T;T;T;T	0.80824	-1.23;-1.2;-1.22;-1.42;-1.19	5.5	1.63	0.23807	.	0.081077	0.51477	D	0.000100	T	0.66906	0.2837	L	0.32530	0.975	0.50039	D	0.999845	B;B;B	0.13145	0.005;0.007;0.001	B;B;B	0.16722	0.011;0.016;0.003	T	0.55927	-0.8063	10	0.54805	T	0.06	.	5.0761	0.14632	0.3807:0.1405:0.4787:0.0	.	1136;315;1195	P21860-4;B3KWG5;P21860	.;.;ERBB3_HUMAN	D	1195;552;1136;318;436;315	ENSP00000267101:E1195D;ENSP00000399178:E552D;ENSP00000408340:E1136D;ENSP00000449129:E436D;ENSP00000448729:E315D	ENSP00000267101:E1195D	E	+	3	2	ERBB3	54781662	0.939000	0.31865	0.998000	0.56505	0.999000	0.98932	-0.022000	0.12480	0.030000	0.15379	0.561000	0.74099	GAG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.527	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3		0	156	0	G			56495395	1			no_errors	ENST00000267101	ensembl	human	known	74_37	missense	5.81	81	5	SNP	1.000	T	T	56495395	G	T	56495395	3	4	89	1	0	0	0	0	1	0	0	0	5224	991	35	3	3826	3	ERBB3	12	56495395	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	8003514	56495395	77356500	220	25586											
C12orf63	144535	genome.wustl.edu	37	chr12	97045517	97045517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatggtttcctctgcacctCtgttttaccattctatttgg	6	18	7	10	0	3	1	0	0	3	1	4	1	4	1	3	2	2	3	3	2	2	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:97045517C>G	ENST00000524981.4	+	36	5047	c.5024C>G	c.(5023-5025)tCt>tGt	p.S1675C				Q96N23	CL055_HUMAN		0																	CTCTGCACCTCTGTTTTACCA	0.338																																																	0													88	84	85					12																	97045517		2203	4300	6503	SO:0001583	missense	0																														ENST00000524981.4:c.5024C>G	12.37:g.97045517C>G	ENSP00000431759:p.Ser1675Cys			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S1675C	ENST00000524981.4	37	c.5024		12	.	.	.	.	.	.	.	.	.	.	C	1.931	-0.445976	0.04604	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.0	0.364	0.16124	.	1.288730	0.05364	N	0.534357	T	0.10594	0.0259	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20042	-1.0287	9	0.46703	T	0.11	0.6394	4.0313	0.09710	0.0:0.2276:0.4238:0.3486	.	100	Q6ZTY8	CL063_HUMAN	C	1675;100	.	ENSP00000345466:S100C	S	+	2	0	C12orf63	95569648	0.001000	0.12720	0.021000	0.16686	0.282000	0.26991	0.645000	0.24782	0.219000	0.20840	0.563000	0.77884	TCT	C12orf55	-	NULL	ENSG00000188596		0.338	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0	130	0	C			97045517	1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	10.09	98	11	SNP	0.002	G	G	97045517	C	G	97045517	3	3	89	1	0	0	0	0	1	0	0	0	1711	913	32	5	305	5	C12orf63	12	97045517	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	40550122	97045517	36806378	221	25587											
MYBPC1	4604	genome.wustl.edu	37	chr12	102061574	102061574	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcaccatcacaggtctGccaacagatgcaaagatctt	14	9	7	11	0	4	2	2	0	2	2	4	2	4	2	2	1	3	2	2	1	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr12:102061574G>T	ENST00000550270.1	+	22	2400	c.2400G>T	c.(2398-2400)ctG>ctT	p.L800L	MYBPC1_ENST00000452455.2_Silent_p.L800L|MYBPC1_ENST00000549145.1_Silent_p.L813L|MYBPC1_ENST00000361466.2_Silent_p.L807L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547405.1_Silent_p.L756L|MYBPC1_ENST00000441232.1_Silent_p.L800L|MYBPC1_ENST00000361685.2_Silent_p.L807L|MYBPC1_ENST00000553190.1_Silent_p.L782L|MYBPC1_ENST00000547509.1_Silent_p.L768L|MYBPC1_ENST00000392934.3_Silent_p.L769L|MYBPC1_ENST00000360610.2_Silent_p.L800L|MYBPC1_ENST00000536007.1_Silent_p.L763L|MYBPC1_ENST00000545503.2_Silent_p.L782L|MYBPC1_ENST00000551300.1_Silent_p.L683L|MYBPC1_ENST00000541119.1_Silent_p.L770L			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	800	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L807L(1)|p.L800L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCACAGGTCTGCCAACAGATG	0.458																																																	2	Substitution - coding silent(2)	endometrium(2)											105	92	97					12																	102061574		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2400G>T	12.37:g.102061574G>T			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L807	ENST00000550270.1	37	c.2421	CCDS9085.1	12																																																																																			MYBPC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196091		0.458	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1		0	70	0	G			102061574	1			no_errors	ENST00000361466	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.990	T	T	102061574	G	T	102061574	2	4	89	1	0	0	0	0	0	0	0	1	10049	1306	46	3		3	MYBPC1	12	102061574	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5016057	102061574	31790321	222	25588											
MPHOSPH8	54737	genome.wustl.edu	37	chr13	20216300	20216300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaggctatacatcggatGatgatacctgggagcccgag	12	7	14	8	2	0	2	0	2	0	0	1	6	0	5	2	4	3	1	2	4	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:20216300G>A	ENST00000361479.5	+	2	327	c.259G>A	c.(259-261)Gat>Aat	p.D87N	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.D87N	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	87	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.|Histone H3K9me3 binding.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TACATCGGATGATGATACCTG	0.388																																																	0													83	82	82					13																	20216300		2203	4300	6503	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"Ankyrin repeat domain containing"	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.259G>A	13.37:g.20216300G>A	ENSP00000355388:p.Asp87Asn		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.D87N	ENST00000361479.5	37	c.259	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011000	0.75046	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.73575	-0.76;-0.76	5.24	5.24	0.73138	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo domain, conserved site (1);	0.246097	0.46758	N	0.000267	D	0.84629	0.5514	L	0.60904	1.88	0.80722	D	1	D;P;P	0.89917	1.0;0.95;0.865	D;P;P	0.78314	0.991;0.625;0.686	D	0.85323	0.1085	10	0.62326	D	0.03	.	19.241	0.93883	0.0:0.0:1.0:0.0	.	87;87;87	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	N	87	ENSP00000414663:D87N;ENSP00000355388:D87N	ENSP00000355388:D87N	D	+	1	0	MPHOSPH8	19114300	1.000000	0.71417	0.934000	0.37439	0.047000	0.14425	8.992000	0.93519	2.619000	0.88677	0.650000	0.86243	GAT	MPHOSPH8	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000196199		0.388	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0	229	0	G	NM_017520		20216300	1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	21.19	93	25	SNP	1.000	A	A	20216300	G	A	20216300	3	1	89	1	0	0	0	0	1	0	0	0	9765	1290	45	3	265	3	MPHOSPH8	13	20216300	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		20216300	94953578	223	25589											
IFT88	8100	genome.wustl.edu	37	chr13	21265264	21265264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccaagaaaaggatcgatGaggatgattttgctgatgaa	15	9	12	5	1	0	5	0	4	0	1	1	8	0	7	1	2	2	1	1	2	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:21265264G>A	ENST00000319980.6	+	28	2779	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	IFT88_ENST00000382778.4_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.E809K|IFT88_ENST00000537103.1_Missense_Mutation_p.E790K	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	818					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAGGATCGATGAGGATGATTT	0.378																																																	0													85	89	88					13																	21265264		2203	4300	6503	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	20606	protein-coding gene	gene with protein product	"polaris homolog"	600595	"tetratricopeptide repeat domain 10", "intraflagellar transport 88 homolog (Chlamydomonas)"	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2452G>A	13.37:g.21265264G>A	ENSP00000323580:p.Glu818Lys		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E818K	ENST00000319980.6	37	c.2452	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580150	0.86645	.	.	ENSG00000032742	ENST00000351808;ENST00000319980;ENST00000537103	T;T;T	0.75589	-0.95;-0.95;-0.95	5.56	5.56	0.83823	.	0.052419	0.85682	D	0.000000	D	0.83156	0.5193	M	0.61703	1.905	0.80722	D	1	P;D	0.67145	0.949;0.996	P;P	0.60415	0.465;0.874	T	0.82460	-0.0446	10	0.44086	T	0.13	-11.0097	19.1155	0.93336	0.0:0.0:1.0:0.0	.	790;818	F5H6C2;Q13099	.;IFT88_HUMAN	K	809;818;790	ENSP00000261632:E809K;ENSP00000323580:E818K;ENSP00000437719:E790K	ENSP00000323580:E818K	E	+	1	0	IFT88	20163264	1.000000	0.71417	0.950000	0.38849	0.525000	0.34531	8.949000	0.93012	2.598000	0.87819	0.655000	0.94253	GAG	IFT88	-	NULL	ENSG00000032742		0.378	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	-	0	210	0	G	NM_006531		21265264	1	tier1	-	no_errors	ENST00000319980	ensembl	human	known	74_37	missense	19.23	105	25	SNP	1.000	A	A	21265264	G	A	21265264	3	1	89	1	0	0	0	0	1	0	0	0	7593	1291	45	3	2554	3	IFT88	13	21265264	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1048964	21265264	93904614	224	25590											
ATP12A	479	genome.wustl.edu	37	chr13	25272866	25272866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagggggcccctgagcGcatcctagagaaatgcagca	12	5	14	10	1	0	3	0	2	0	1	1	5	1	3	3	2	3	3	3	2	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:25272866G>T	ENST00000381946.3	+	12	1750	c.1583G>T	c.(1582-1584)cGc>cTc	p.R528L	ATP12A_ENST00000218548.6_Missense_Mutation_p.R534L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	528					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.R528H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCCCCTGAGCGCATCCTAGAG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)												1	Substitution - Missense(1)	large_intestine(1)											99	95	97					13																	25272866		2203	4300	6503	SO:0001583	missense	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1583G>T	13.37:g.25272866G>T	ENSP00000371372:p.Arg528Leu		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.R534L	ENST00000381946.3	37	c.1601	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668617	0.47677	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	T;T	0.79749	-1.3;-1.3	5.72	4.88	0.63580	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.062472	0.64402	D	0.000006	T	0.80696	0.4672	M	0.70842	2.15	0.58432	D	0.999999	P;P	0.43973	0.823;0.722	B;B	0.42593	0.392;0.172	T	0.82774	-0.0291	10	0.87932	D	0	.	12.5302	0.56111	0.0806:0.0:0.9194:0.0	.	534;528	P54707-2;P54707	.;AT12A_HUMAN	L	534;528	ENSP00000218548:R534L;ENSP00000371372:R528L	ENSP00000218548:R534L	R	+	2	0	ATP12A	24170866	1.000000	0.71417	0.985000	0.45067	0.124000	0.20399	7.849000	0.86908	1.430000	0.47334	0.655000	0.94253	CGC	ATP12A	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000075673		0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1		0	29	0	G	NM_001676		25272866	1			no_errors	ENST00000218548	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	25272866	G	T	25272866	3	4	89	1	0	0	0	0	1	0	0	0	1123	1087	38	2	1647	2	ATP12A	13	25272866	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4007602	25272866	89897012	225	25591											
PDS5B	23047	genome.wustl.edu	37	chr13	33275576	33275576	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagataccgaatctatcagGtatttgtatataaaatacta	17	14	5	5	1	2	1	1	0	1	1	2	2	2	1	1	1	2	2	1	1	11	10			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:33275576G>T	ENST00000315596.10	+	17	2042		c.e17+1			NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)						cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATCTATCAGGTATTTGTATA	0.393																																																	0													59	56	57					13																	33275576		1839	4082	5921	SO:0001630	splice_region_variant	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1856+1G>T	13.37:g.33275576G>T			Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Splice_Site	SNP	-	e16+1	ENST00000315596.10	37	c.1856+1	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392470	0.83011	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0456	0.93018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDS5B	32173576	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.700000	0.98707	2.580000	0.87095	0.655000	0.94253	.	PDS5B	-	-	ENSG00000083642		0.393	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	-	0	79	0	G	NM_015032	Intron	33275576	1	tier1	-	no_errors	ENST00000315596	ensembl	human	known	74_37	splice_site	11.63	38	5	SNP	1.000	T	T	33275576	G	T	33275576	5	4	89	1	0	0	0	0	0	0	1	0	11731	1275	44	3	1919	3	PDS5B	13	33275576	Splice_Site	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	8002710	33275576	81894302	226	25592											
DCLK1	9201	genome.wustl.edu	37	chr13	36382446	36382446	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaaaagcacctcctggTcatcaccacttctgtttagg	11	11	7	12	0	4	0	3	0	1	0	5	1	5	0	3	2	1	2	3	2	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:36382446T>G	ENST00000360631.3	-	14	1989	c.1778A>C	c.(1777-1779)gAc>gCc	p.D593A	DCLK1_ENST00000379893.1_Missense_Mutation_p.D286A|DCLK1_ENST00000255448.4_Missense_Mutation_p.D593A			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	593	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CACCTCCTGGTCATCACCACT	0.453																																																	0													197	185	189					13																	36382446		2203	4300	6503	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1778A>C	13.37:g.36382446T>G	ENSP00000353846:p.Asp593Ala		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.D593A	ENST00000360631.3	37	c.1778		13	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499470	0.64298	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.42900	0.96;0.96;0.96	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.25144	0.715	0.80722	D	1	B;P;P;B	0.36183	0.22;0.542;0.486;0.22	B;B;B;B	0.42959	0.099;0.403;0.281;0.099	T	0.07731	-1.0757	10	0.08837	T	0.75	.	15.4449	0.75223	0.0:0.0:0.0:1.0	.	286;593;593;286	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	A	285;593;593;286;575	ENSP00000255448:D593A;ENSP00000353846:D593A;ENSP00000369223:D286A	ENSP00000255448:D593A	D	-	2	0	DCLK1	35280446	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.950000	0.87804	2.059000	0.61396	0.460000	0.39030	GAC	DCLK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000133083		0.453	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1		0	68	0	T	NM_004734		36382446	-1			no_errors	ENST00000360631	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	G	G	36382446	T	G	36382446	3	3	89	1	0	0	0	0	1	0	0	0	4300	1667	58	4	431	4	DCLK1	13	36382446	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	3106870	36382446	78787432	227	25593											
TRPC4	7223	genome.wustl.edu	37	chr13	38211354	38211354	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtggtcctgcagcctgttGacgagcaacttcttctgaaa	10	11	10	10	1	2	2	0	2	2	0	3	3	3	2	2	1	4	3	2	1	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:38211354G>A	ENST00000379705.3	-	11	3477	c.2620C>T	c.(2620-2622)Caa>Taa	p.Q874*	TRPC4_ENST00000355779.2_Nonsense_Mutation_p.Q733*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.Q790*|TRPC4_ENST00000379673.2_Nonsense_Mutation_p.Q725*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.Q879*|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.Q733*|TRPC4_ENST00000338947.5_Nonsense_Mutation_p.Q701*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.Q701*|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	874	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GCAGCCTGTTGACGAGCAACT	0.428																																																	0													84	80	82					13																	38211354		2203	4299	6502	SO:0001587	stop_gained	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2620C>T	13.37:g.38211354G>A	ENSP00000369027:p.Gln874*		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.Q879*	ENST00000379705.3	37	c.2635	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	39	7.879917	0.98539	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	.	.	.	5.76	5.76	0.90799	.	3.984360	0.00424	N	0.000067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-12.2542	19.9628	0.97258	0.0:0.0:1.0:0.0	.	.	.	.	X	874;879;701;701;733;790;725;733	.	ENSP00000342580:Q701X	Q	-	1	0	TRPC4	37109354	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	7.623000	0.83113	2.695000	0.91970	0.563000	0.77884	CAA	TRPC4	-	NULL	ENSG00000133107		0.428	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0	72	0	G	NM_003306		38211354	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	nonsense	31.33	57	26	SNP	0.999	A	A	38211354	G	A	38211354	4	1	89	1	0	0	0	0	0	1	0	0	16628	1299	45	3	317	3	TRPC4	13	38211354	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1828908	38211354	76958524	228	25594											
FREM2	341640	genome.wustl.edu	37	chr13	39424334	39424334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggactttgaagaacGcccaaacactgatacctcca	14	8	8	11	1	0	4	0	3	0	1	1	6	1	5	3	1	3	0	3	1	4	2	rs140528316		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:39424334G>T	ENST00000280481.7	+	9	6755	c.6539G>T	c.(6538-6540)cGc>cTc	p.R2180L	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2180	Calx-beta 4.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGAAGAACGCCCAAACACT	0.438																																																	0													95	86	89					13																	39424334		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6539G>T	13.37:g.39424334G>T	ENSP00000280481:p.Arg2180Leu		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.R2180L	ENST00000280481.7	37	c.6539	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	36	5.738328	0.96865	.	.	ENSG00000150893	ENST00000280481	T	0.25749	1.78	5.79	5.79	0.91817	Na-Ca exchanger/integrin-beta4 (2);	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75187	-0.3406	10	0.87932	D	0	.	20.0373	0.97568	0.0:0.0:1.0:0.0	.	2180;2180	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	L	2180	ENSP00000280481:R2180L	ENSP00000280481:R2180L	R	+	2	0	FREM2	38322334	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.746000	0.98859	2.734000	0.93682	0.655000	0.94253	CGC	FREM2	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000150893		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	53	0	G	NM_207361		39424334	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	39424334	G	T	39424334	3	4	89	1	0	0	0	0	1	0	0	0	6069	1087	38	2	6573	2	FREM2	13	39424334	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1212980	39424334	75745544	229	25595											
ABCC4	10257	genome.wustl.edu	37	chr13	95839035	95839035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataaaatattactcctcaGagttcccgagaacacccagg	16	8	6	11	1	1	2	1	0	0	2	3	3	3	2	3	1	2	1	3	1	6	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:95839035G>T	ENST00000376887.4	-	11	1579	c.1465C>A	c.(1465-1467)Ctg>Atg	p.L489M	ABCC4_ENST00000412704.1_Missense_Mutation_p.L489M|ABCC4_ENST00000536256.1_Missense_Mutation_p.L414M|ABCC4_ENST00000431522.1_Missense_Mutation_p.L489M|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	489	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTACTCCTCAGAGTTCCCGAG	0.468																																																	0													82	81	81					13																	95839035		2203	4300	6503	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1465C>A	13.37:g.95839035G>T	ENSP00000366084:p.Leu489Met		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.L489M	ENST00000376887.4	37	c.1465	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437654	0.43224	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.91894	-2.93;-2.93;-2.93;-2.93	5.81	0.868	0.19090	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.227179	0.44688	D	0.000426	D	0.92573	0.7641	M	0.81614	2.55	0.23537	N	0.997462	P;B;B;B;B	0.35192	0.489;0.07;0.026;0.07;0.009	B;B;B;B;B	0.42361	0.385;0.2;0.054;0.2;0.032	D	0.87308	0.2310	10	0.87932	D	0	.	12.6734	0.56880	0.0:0.4851:0.453:0.0619	.	414;489;489;489;489	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	M	489;489;414;489	ENSP00000388657:L489M;ENSP00000366084:L489M;ENSP00000442024:L414M;ENSP00000398562:L489M	ENSP00000366084:L489M	L	-	1	2	ABCC4	94637036	0.971000	0.33674	0.873000	0.34254	0.942000	0.58702	2.114000	0.41911	0.096000	0.17463	-0.139000	0.14373	CTG	ABCC4	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.468	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	-	0	57	0	G	NM_005845		95839035	-1	tier1	-	no_errors	ENST00000376887	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.872	T	T	95839035	G	T	95839035	3	4	89	1	0	0	0	0	1	0	0	0	55	933	33	3	2645	3	ABCC4	13	95839035	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	56414701	95839035	19330843	230	25596											
PCCA	5095	genome.wustl.edu	37	chr13	100909873	100909873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgtcatgatcaaggcctCagcaggtggtggtgggaaag	9	8	15	9	0	3	1	3	1	0	0	3	2	3	2	2	5	1	1	2	5	2	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:100909873C>T	ENST00000376285.1	+	9	700	c.662C>T	c.(661-663)tCa>tTa	p.S221L	PCCA_ENST00000376279.3_Missense_Mutation_p.S221L|PCCA_ENST00000376286.4_Missense_Mutation_p.S195L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	221	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATCAAGGCCTCAGCAGGTGGT	0.453																																																	0													126	102	110					13																	100909873		2203	4300	6503	SO:0001583	missense	0			X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"propionyl Coenzyme A carboxylase, alpha polypeptide"			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.662C>T	13.37:g.100909873C>T	ENSP00000365462:p.Ser221Leu		B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.S221L	ENST00000376285.1	37	c.662	CCDS9496.2	13	.	.	.	.	.	.	.	.	.	.	C	32	5.159852	0.94727	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285	D;D;D	0.97620	-4.46;-4.46;-4.46	4.82	4.82	0.62117	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98651	0.9548	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.994	D;D;D	0.97110	0.914;1.0;0.914	D	0.99809	1.1040	10	0.72032	D	0.01	.	17.8754	0.88824	0.0:1.0:0.0:0.0	.	221;195;221	C9JPQ8;P05165-2;P05165	.;.;PCCA_HUMAN	L	195;221;221	ENSP00000365463:S195L;ENSP00000365456:S221L;ENSP00000365462:S221L	ENSP00000365456:S221L	S	+	2	0	PCCA	99707874	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.313000	0.78978	2.212000	0.71576	0.563000	0.77884	TCA	PCCA	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom	ENSG00000175198		0.453	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCCA	HGNC	protein_coding	OTTHUMT00000045627.2	-	0	71	0	C			100909873	1	tier1	-	no_errors	ENST00000376285	ensembl	human	known	74_37	missense	21.69	65	18	SNP	1.000	T	T	100909873	C	T	100909873	3	4	89	1	0	0	0	0	1	0	0	0	11543	838	29	3	696	3	PCCA	13	100909873	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5070838	100909873	14260005	231	25597											
MYO16	23026	genome.wustl.edu	37	chr13	109318403	109318403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcagaagcaggaagggttCctgaaaaggctgaagcatgc	13	8	13	7	0	1	3	1	2	0	1	2	4	2	4	1	3	3	4	1	3	5	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:109318403C>A	ENST00000357550.2	+	1	173	c.132C>A	c.(130-132)ttC>ttA	p.F44L	MYO16_ENST00000356711.2_Missense_Mutation_p.F44L|MYO16_ENST00000251041.5_Missense_Mutation_p.F44L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGGAAGGGTTCCTGAAAAGGC	0.502																																																	0													80	71	74					13																	109318403		2203	4300	6503	SO:0001583	missense	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.132C>A	13.37:g.109318403C>A	ENSP00000350160:p.Phe44Leu			Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F44L	ENST00000357550.2	37	c.132	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.154447	0.00325	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.48201	0.82;0.82;0.82	5.37	2.52	0.30459	.	1.123880	0.07084	N	0.837515	T	0.25494	0.0620	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20371	-1.0277	9	.	.	.	.	5.7096	0.17927	0.1238:0.6332:0.1209:0.1222	.	44;44	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	L	44	ENSP00000349145:F44L;ENSP00000350160:F44L;ENSP00000251041:F44L	.	F	+	3	2	MYO16	108116404	0.008000	0.16893	0.137000	0.22149	0.006000	0.05464	-0.291000	0.08343	1.237000	0.43756	-0.182000	0.12963	TTC	MYO16	-	NULL	ENSG00000041515		0.502	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0	90	0	C	NM_015011		109318403	1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	missense	33.90	39	20	SNP	0.000	A	A	109318403	C	A	109318403	3	1	89	1	0	0	0	0	1	0	0	0	10102	854	30	3	134	3	MYO16	13	109318403	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	8408530	109318403	5851475	232	25598											
TUBGCP3	10426	genome.wustl.edu	37	chr13	113212681	113212681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtagtaaggggttgagtggGcatctcttggtaaggcctga	9	11	16	5	0	1	2	0	2	1	0	2	2	1	2	1	5	0	5	1	5	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr13:113212681G>T	ENST00000261965.3	-	5	563	c.377C>A	c.(376-378)gCc>gAc	p.A126D	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.A126D	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	126					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GGTTGAGTGGGCATCTCTTGG	0.527																																																	0													125	118	120					13																	113212681		2203	4300	6503	SO:0001583	missense	0			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"spindle pole body protein"					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.377C>A	13.37:g.113212681G>T	ENSP00000261965:p.Ala126Asp		O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	pfam_TUBGCP	p.A126D	ENST00000261965.3	37	c.377	CCDS9525.1	13	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793753	0.50102	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.26810	1.71;1.73	5.34	5.34	0.76211	.	0.164919	0.53938	D	0.000045	T	0.44008	0.1273	M	0.62723	1.935	0.58432	D	0.999997	P;D;P;P	0.58268	0.843;0.982;0.773;0.905	B;P;B;B	0.56751	0.202;0.805;0.232;0.322	T	0.11891	-1.0569	10	0.27082	T	0.32	-25.9783	19.1289	0.93397	0.0:0.0:1.0:0.0	.	116;126;126;126	B4DYP7;Q96CW5-3;Q96CW5-2;Q96CW5	.;.;.;GCP3_HUMAN	D	126	ENSP00000261965:A126D;ENSP00000364821:A126D	ENSP00000261965:A126D	A	-	2	0	TUBGCP3	112260682	1.000000	0.71417	0.919000	0.36401	0.348000	0.29142	6.930000	0.75858	2.513000	0.84729	0.543000	0.68304	GCC	TUBGCP3	-	NULL	ENSG00000126216		0.527	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	-	0	115	0	G	NM_006322		113212681	-1	tier1	-	no_errors	ENST00000261965	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.999	T	T	113212681	G	T	113212681	3	4	89	1	0	0	0	0	1	0	0	0	16816	1203	42	3	2418	3	TUBGCP3	13	113212681	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3894278	113212681	1957197	233	25599											
REM2	161253	genome.wustl.edu	37	chr14	23354124	23354124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcaaaaggatggcatcttCaaggtcatgctagtggggga	11	9	14	7	0	4	0	3	0	1	0	4	2	4	2	0	5	1	3	0	5	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:23354124C>G	ENST00000267396.4	+	2	468	c.345C>G	c.(343-345)ttC>ttG	p.F115L	REM2_ENST00000536884.1_Missense_Mutation_p.F115L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	115					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		ATGGCATCTTCAAGGTCATGC	0.597																																																	0													49	55	53					14																	23354124		2160	4260	6420	SO:0001583	missense	0				CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"RAS (RAD and GEM) like GTP binding 2"			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.345C>G	14.37:g.23354124C>G	ENSP00000267396:p.Phe115Leu		B7Z5P1|Q8N8R8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase	p.F115L	ENST00000267396.4	37	c.345	CCDS45082.1	14	.	.	.	.	.	.	.	.	.	.	C	16.97	3.269665	0.59540	.	.	ENSG00000139890	ENST00000267396;ENST00000536884	T;T	0.79749	-1.3;1.51	5.72	4.82	0.62117	.	0.114823	0.64402	D	0.000010	T	0.74137	0.3677	L	0.27053	0.805	0.45216	D	0.998227	P;P	0.46859	0.885;0.814	P;B	0.45610	0.487;0.229	T	0.76995	-0.2752	10	0.59425	D	0.04	.	13.0956	0.59190	0.0:0.9203:0.0:0.0797	.	115;115	B7Z5P1;Q8IYK8	.;REM2_HUMAN	L	115	ENSP00000267396:F115L;ENSP00000442774:F115L	ENSP00000267396:F115L	F	+	3	2	REM2	22423964	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.158000	0.50723	1.533000	0.49186	0.655000	0.94253	TTC	REM2	-	superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase	ENSG00000139890		0.597	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REM2	HGNC	protein_coding	OTTHUMT00000408290.1	-	0	62	0	C	NM_173527		23354124	1	tier1	-	no_errors	ENST00000267396	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G	G	23354124	C	G	23354124	3	3	89	1	0	0	0	0	1	0	0	0	13268	825	29	5	351	5	REM2	14	23354124	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		23354124	83995416	234	25600											
SEC23A	10484	genome.wustl.edu	37	chr14	39502532	39502532	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaataggtgctccagactCctagaggaaaaaagatattt	17	9	9	6	0	0	4	0	0	0	4	2	5	2	5	2	2	1	1	2	2	8	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:39502532C>A	ENST00000307712.6	-	20	2726	c.2209G>T	c.(2209-2211)Gag>Tag	p.E737*	SEC23A_ENST00000545328.2_Splice_Site_p.E708*|SEC23A_ENST00000536508.1_Splice_Site_p.E635*|SEC23A_ENST00000537403.1_Splice_Site_p.E535*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	737					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GCTCCAGACTCCTAGAGGAAA	0.338																																																	0													75	80	79					14																	39502532		2203	4298	6501	SO:0001630	splice_region_variant	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.2209-1G>T	14.37:g.39502532C>A			B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.E737*	ENST00000307712.6	37	c.2209	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.514824	0.99192	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328	.	.	.	5.58	5.58	0.84498	.	0.051193	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-16.7518	19.579	0.95458	0.0:1.0:0.0:0.0	.	.	.	.	X	535;737;635;708	.	ENSP00000306881:E737X	E	-	1	0	SEC23A	38572283	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.601000	0.82783	2.617000	0.88574	0.591000	0.81541	GAG	SEC23A	-	NULL	ENSG00000100934		0.338	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	-	0	171	0	C		Nonsense_Mutation	39502532	-1	tier1	-	no_errors	ENST00000307712	ensembl	human	known	74_37	nonsense	10.24	149	17	SNP	1.000	A	A	39502532	C	A	39502532	5	1	89	1	0	0	0	0	0	0	1	0	14036	869	30	3	92	3	SEC23A	14	39502532	Splice_Site	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	16148408	39502532	67847008	235	25601											
MUDENG	55745	genome.wustl.edu	37	chr14	57753022	57753022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtttttgcatcaggaaaaCcaaaaataagtgcacgtaag	18	9	8	6	1	1	0	1	0	0	0	1	1	1	1	1	1	3	4	1	1	7	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:57753022C>G	ENST00000261558.3	+	7	1781	c.1375C>G	c.(1375-1377)Cca>Gca	p.P459A	AP5M1_ENST00000431972.2_Missense_Mutation_p.P473A	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	459	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											ATCAGGAAAACCAAAAATAAG	0.323																																																	0													153	150	151					14																	57753022		2203	4299	6502	SO:0001583	missense	0			AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"Mu-2 related death-inducing gene"	614368	"chromosome 14 open reading frame 108", "MU-2/AP1M2 domain containing, death-inducing"	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.1375C>G	14.37:g.57753022C>G	ENSP00000261558:p.Pro459Ala		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	p.P459A	ENST00000261558.3	37	c.1375	CCDS9729.1	14	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630536	0.67015	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.21191	2.02;2.02	5.76	5.76	0.90799	Clathrin adaptor, mu subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.23532	0.0569	L	0.55481	1.735	0.80722	D	1	P	0.36086	0.536	B	0.32393	0.145	T	0.01925	-1.1246	10	0.27082	T	0.32	.	19.9607	0.97248	0.0:1.0:0.0:0.0	.	459	Q9H0R1	MUDEN_HUMAN	A	459;473	ENSP00000261558:P459A;ENSP00000390531:P473A	ENSP00000261558:P459A	P	+	1	0	MUDENG	56822775	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.419000	0.66435	2.713000	0.92767	0.585000	0.79938	CCA	AP5M1	-	superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000053770		0.323	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5M1	HGNC	protein_coding	OTTHUMT00000276922.1		0	46	0	C	NM_018229		57753022	1			no_errors	ENST00000261558	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	G	G	57753022	C	G	57753022	3	3	89	1	0	0	0	0	1	0	0	0	10021	507	18	5	1401	5	MUDENG	14	57753022	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	18250490	57753022	49596518	236	25602											
RGS6	9628	genome.wustl.edu	37	chr14	72985113	72985113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctacaggatgtggccaaGagggtagaagaaatctggca	13	6	13	9	0	1	3	0	0	1	3	1	4	1	4	3	4	1	2	3	4	5	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:72985113G>T	ENST00000553530.1	+	15	1353	c.1146G>T	c.(1144-1146)aaG>aaT	p.K382N	RGS6_ENST00000406236.4_Missense_Mutation_p.K382N|RGS6_ENST00000553525.1_Missense_Mutation_p.K382N|RGS6_ENST00000556437.1_Missense_Mutation_p.K382N|RGS6_ENST00000402788.2_Missense_Mutation_p.K382N|RGS6_ENST00000355512.6_Missense_Mutation_p.K382N|RGS6_ENST00000554782.1_Missense_Mutation_p.K243N|RGS6_ENST00000407322.4_Missense_Mutation_p.K382N|RGS6_ENST00000434263.2_Missense_Mutation_p.K313N|RGS6_ENST00000343854.6_Missense_Mutation_p.K345N|RGS6_ENST00000404301.2_Missense_Mutation_p.K382N|RGS6_ENST00000555571.1_Missense_Mutation_p.K382N	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	382	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		ATGTGGCCAAGAGGGTAGAAG	0.498																																					Ovarian(143;1926 2468 21071 48641)												0													75	77	76					14																	72985113		2203	4300	6503	SO:0001583	missense	0			AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"Regulators of G-protein signaling"	10002	protein-coding gene	gene with protein product		603894	"regulator of G-protein signalling 6"			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.1146G>T	14.37:g.72985113G>T	ENSP00000452331:p.Lys382Asn		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Missense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.K382N	ENST00000553530.1	37	c.1146	CCDS9808.1	14	.	.	.	.	.	.	.	.	.	.	G	9.514	1.106612	0.20714	.	.	ENSG00000182732	ENST00000553525;ENST00000555571;ENST00000553530;ENST00000556437;ENST00000355512;ENST00000404301;ENST00000406236;ENST00000407322;ENST00000402788;ENST00000343854;ENST00000453330;ENST00000434263;ENST00000554782;ENST00000535521	T;T;T;T;T;T;T;T;T;T;T;T	0.01918	4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56;4.56	5.41	2.42	0.29668	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.251824	0.46758	D	0.000269	T	0.01765	0.0056	L	0.29908	0.895	0.29423	N	0.860431	B;B;B;B	0.32425	0.371;0.0;0.233;0.0	B;B;B;B	0.34452	0.183;0.001;0.095;0.001	T	0.35649	-0.9780	10	0.28530	T	0.3	-4.7064	3.3691	0.07213	0.1586:0.2022:0.5167:0.1226	.	313;382;387;382	B7Z7N5;P49758-2;Q59FJ8;P49758	.;.;.;RGS6_HUMAN	N	382;382;382;382;382;382;382;382;382;345;354;313;243;243	ENSP00000451030:K382N;ENSP00000450936:K382N;ENSP00000452331:K382N;ENSP00000451855:K382N;ENSP00000347699:K382N;ENSP00000385243:K382N;ENSP00000384218:K382N;ENSP00000384612:K382N;ENSP00000383953:K382N;ENSP00000341199:K345N;ENSP00000412144:K313N;ENSP00000451912:K243N	ENSP00000341199:K345N	K	+	3	2	RGS6	72054866	0.166000	0.22962	1.000000	0.80357	0.994000	0.84299	0.049000	0.14099	1.417000	0.47077	0.561000	0.74099	AAG	RGS6	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam	ENSG00000182732		0.498	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	RGS6	HGNC	protein_coding	OTTHUMT00000413033.2	-	0	50	0	G			72985113	1	tier1	-	no_errors	ENST00000553525	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.964	T	T	72985113	G	T	72985113	3	4	89	1	0	0	0	0	1	0	0	0	13354	933	33	3	1200	3	RGS6	14	72985113	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	15232091	72985113	34364427	237	25603											
RPS6KL1	83694	genome.wustl.edu	37	chr14	75388118	75388118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtcacgttttgtcatgtCaggcactcccagagccaccc	9	10	8	14	1	3	1	3	0	0	1	4	1	4	1	3	1	1	2	3	1	1	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:75388118C>T	ENST00000555647.1	-	3	414	c.127G>A	c.(127-129)Gac>Aac	p.D43N	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.D43N|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.D43N|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.D43N			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	43						ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TTTGTCATGTCAGGCACTCCC	0.617																																																	0													142	127	132					14																	75388118		2203	4300	6503	SO:0001583	missense	0			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.127G>A	14.37:g.75388118C>T	ENSP00000452027:p.Asp43Asn		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D43N	ENST00000555647.1	37	c.127	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804394	0.70682	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.58940	0.3;1.57;0.3;0.3	4.18	4.18	0.49190	.	0.102616	0.40385	N	0.001117	T	0.63604	0.2525	L	0.27053	0.805	0.09310	N	1	D;D;D	0.89917	1.0;0.988;1.0	D;P;D	0.87578	0.963;0.871;0.998	T	0.57619	-0.7780	10	0.62326	D	0.03	-21.1244	13.7997	0.63192	0.0:1.0:0.0:0.0	.	43;43;43	Q9Y6S9;Q9Y6S9-4;Q9Y6S9-2	RPKL1_HUMAN;.;.	N	43	ENSP00000452027:D43N;ENSP00000346644:D43N;ENSP00000450567:D43N;ENSP00000351086:D43N	ENSP00000346644:D43N	D	-	1	0	RPS6KL1	74457871	0.940000	0.31905	0.055000	0.19348	0.023000	0.10783	5.003000	0.63959	2.053000	0.61076	0.561000	0.74099	GAC	RPS6KL1	-	NULL	ENSG00000198208		0.617	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	-	0	26	0	C			75388118	-1	tier1	-	no_errors	ENST00000358328	ensembl	human	known	74_37	missense	25.86	43	15	SNP	0.063	T	T	75388118	C	T	75388118	3	4	89	1	0	0	0	0	1	0	0	0	13704	826	29	3	1538	3	RPS6KL1	14	75388118	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2403005	75388118	31961422	238	25604											
ASB2	51676	genome.wustl.edu	37	chr14	94404059	94404059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctgccttctccttgaTgacggcccagtcctcaaagc	7	10	7	17	1	2	2	1	2	1	0	4	2	3	2	6	1	3	0	6	1	2	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:94404059T>C	ENST00000315988.4	-	7	2100	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	ASB2_ENST00000556337.1_5'Flank|ASB2_ENST00000555019.1_Missense_Mutation_p.I586V|RP11-131H24.4_ENST00000557646.1_5'Flank	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	538	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TTCTCCTTGATGACGGCCCAG	0.612																																																	0													111	94	100					14																	94404059		2203	4300	6503	SO:0001583	missense	0			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1612A>G	14.37:g.94404059T>C	ENSP00000320675:p.Ile538Val		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.I538V	ENST00000315988.4	37	c.1612	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954713	0.53293	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988	T;T	0.29917	1.55;1.55	5.13	5.13	0.70059	SOCS protein, C-terminal (1);	0.049339	0.85682	D	0.000000	T	0.46073	0.1374	L	0.45581	1.43	0.53688	D	0.999971	P;D;P	0.59357	0.744;0.985;0.744	B;D;B	0.67548	0.279;0.952;0.279	T	0.23904	-1.0175	10	0.26408	T	0.33	13.6678	14.9326	0.70929	0.0:0.0:0.0:1.0	.	554;586;538	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	V	586;554;538	ENSP00000451575:I586V;ENSP00000320675:I538V	ENSP00000320675:I538V	I	-	1	0	ASB2	93473812	0.631000	0.27164	0.997000	0.53966	0.973000	0.67179	0.969000	0.29370	1.933000	0.56026	0.379000	0.24179	ATC	ASB2	-	pfscan_SOCS_C	ENSG00000100628		0.612	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	-	0	59	0	T			94404059	-1	tier1	-	no_errors	ENST00000315988	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.997	C	C	94404059	T	C	94404059	3	2	89	1	0	0	0	0	1	0	0	0	1024	1464	51	4	159	4	ASB2	14	94404059	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	19015941	94404059	12945481	239	25605											
EVL	51466	genome.wustl.edu	37	chr14	100604120	100604120	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaagctaagagcccccttCagtcgcagcctcactctagg	9	7	9	16	2	3	1	2	0	1	1	4	2	3	1	4	1	3	2	4	1	3	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:100604120C>T	ENST00000402714.2	+	11	1673	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	EVL_ENST00000392920.3_Nonsense_Mutation_p.Q359*|EVL_ENST00000544450.2_Nonsense_Mutation_p.Q363*			Q9UI08	EVL_HUMAN	Enah/Vasp-like	357	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.Q359E(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GAGCCCCCTTCAGTCGCAGCC	0.612																																																	1	Substitution - Missense(1)	cervix(1)											109	107	108					14																	100604120		2203	4300	6503	SO:0001587	stop_gained	0			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.1069C>T	14.37:g.100604120C>T	ENSP00000384720:p.Gln357*		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Nonsense_Mutation	SNP	pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1	p.Q359*	ENST00000402714.2	37	c.1075		14	.	.	.	.	.	.	.	.	.	.	C	39	7.468555	0.98302	.	.	ENSG00000196405	ENST00000402714;ENST00000544450;ENST00000392920;ENST00000539470	.	.	.	4.73	4.73	0.59995	.	0.690656	0.13220	N	0.404439	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-13.282	17.6886	0.88263	0.0:1.0:0.0:0.0	.	.	.	.	X	357;363;359;322	.	ENSP00000376652:Q359X	Q	+	1	0	EVL	99673873	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.182000	0.65059	2.163000	0.67991	0.561000	0.74099	CAG	EVL	-	pirsf_Vasodilator_phosphoprotein	ENSG00000196405		0.612	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	HGNC	protein_coding	OTTHUMT00000413958.1	-	0	74	0	C			100604120	1	tier1	-	no_errors	ENST00000392920	ensembl	human	known	74_37	nonsense	5.97	63	4	SNP	1.000	T	T	100604120	C	T	100604120	4	4	89	1	0	0	0	0	0	1	0	0	5307	827	29	3	1117	3	EVL	14	100604120	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	6200061	100604120	6745420	240	25606											
CRIP2	1397	genome.wustl.edu	37	chr14	105945384	105945384	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaagaaggtgtacttcGgtgagtgcgcgcccgggccc	7	6	16	12	4	0	2	0	1	0	1	1	2	0	2	2	3	3	3	2	3	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr14:105945384G>A	ENST00000329146.4	+	5	1119	c.406G>A	c.(406-408)Gct>Act	p.A136T	CRIP2_ENST00000483017.3_Splice_Site_p.A210T|CRIP2_ENST00000548989.1_3'UTR	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	136	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	cell cortex (GO:0005938)	zinc ion binding (GO:0008270)			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GGTGTACTTCGGTGAGTGCGC	0.731																																																	0													5	5	5					14																	105945384		2060	4089	6149	SO:0001630	splice_region_variant	0				CCDS10003.1, CCDS59246.1	14q32.3	2008-08-11			ENSG00000182809	ENSG00000182809			2361	protein-coding gene	gene with protein product		601183				8843343, 10681529	Standard	NM_001312		Approved	CRP2, ESP1	uc031qqr.1	P52943	OTTHUMG00000029906	ENST00000329146.4:c.406+1G>A	14.37:g.105945384G>A			A1A4U1|B7Z6C0|E9PD13	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A136T	ENST00000329146.4	37	c.406	CCDS10003.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.5|20.5	4.001598|4.001598	0.74818|0.74818	.|.	.|.	ENSG00000182809|ENSG00000182809	ENST00000483017;ENST00000329146|ENST00000538259	T;T|.	0.61274|.	0.12;0.12|.	3.38|3.38	3.38|3.38	0.38709|0.38709	Zinc finger, LIM-type (5);|.	0.123264|.	0.36002|.	U|.	0.002854|.	T|T	0.74733|0.74733	0.3755|0.3755	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.998;0.998;0.994|.	T|T	0.77525|0.77525	-0.2555|-0.2555	10|5	0.87932|.	D|.	0|.	-1.3635|-1.3635	13.4927|13.4927	0.61405|0.61405	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	210;136;136|.	B7Z6C0;Q53FN1;P52943|.	.;.;CRIP2_HUMAN|.	T|H	210;136|119	ENSP00000426119:A210T;ENSP00000328521:A136T|.	ENSP00000328521:A136T|.	A|R	+|+	1|2	0|0	CRIP2|CRIP2	105016429|105016429	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.063000|0.063000	0.16089|0.16089	6.940000|6.940000	0.75917|0.75917	1.727000|1.727000	0.51537|0.51537	0.282000|0.282000	0.19409|0.19409	GCT|CGC	CRIP2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000182809		0.731	CRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIP2	HGNC	protein_coding	OTTHUMT00000074597.3	-	0	9	0	G	NM_001312	Missense_Mutation	105945384	1	tier1	-	no_errors	ENST00000329146	ensembl	human	known	74_37	missense	41.67	7	5	SNP	1.000	A	A	105945384	G	A	105945384	5	1	89	1	0	0	0	0	0	0	1	0	3882	1130	39	1	424	1	CRIP2	14	105945384	Splice_Site	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5341264	105945384	1404156	241	25607											
ATP10A	57194	genome.wustl.edu	37	chr15	25928510	25928510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccctgtccagcacccCagtcacgagcgggggaagtg	9	5	12	15	2	1	0	1	0	0	0	3	2	3	1	4	2	2	1	4	2	1	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:25928510C>T	ENST00000356865.6	-	17	3526	c.3415G>A	c.(3415-3417)Ggg>Agg	p.G1139R		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1139					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCCAGCACCCCAGTCACGAGC	0.537																																																	0													74	66	69					15																	25928510		2203	4300	6503	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"ATPases / P-type"	13542	protein-coding gene	gene with protein product		605855	"ATPase, Class V, type 10C", "ATPase, Class V, type 10A"	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3415G>A	15.37:g.25928510C>T	ENSP00000349325:p.Gly1139Arg		Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G1139R	ENST00000356865.6	37	c.3415	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006506	0.93287	.	.	ENSG00000206190	ENST00000356865	D	0.90444	-2.67	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.97495	0.9180	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99774	1.1025	10	0.87932	D	0	-36.8958	17.8828	0.88845	0.0:1.0:0.0:0.0	.	1139	O60312	AT10A_HUMAN	R	1139	ENSP00000349325:G1139R	ENSP00000349325:G1139R	G	-	1	0	ATP10A	23479603	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.565000	0.82337	2.205000	0.71048	0.655000	0.94253	GGG	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.537	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1		0	37	0	C	NM_024490		25928510	-1			no_errors	ENST00000356865	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	25928510	C	T	25928510	3	4	89	1	0	0	0	0	1	0	0	0	1117	594	21	3	1104	3	ATP10A	15	25928510	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		25928510	76602882	242	25608											
HERC2	8924	genome.wustl.edu	37	chr15	28419589	28419589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagtctggaagaggacggGctcgtggacagagggcgtgg	8	6	20	7	3	1	2	0	0	1	2	2	5	1	5	0	6	1	2	0	6	1	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:28419589G>A	ENST00000261609.7	-	65	10117	c.10009C>T	c.(10009-10011)Ccc>Tcc	p.P3337S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGAGGACGGGCTCGTGGACA	0.522																																																	0													34	29	31					15																	28419589		2203	4297	6500	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10009C>T	15.37:g.28419589G>A	ENSP00000261609:p.Pro3337Ser			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.P3337S	ENST00000261609.7	37	c.10009	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546106	0.65198	.	.	ENSG00000128731	ENST00000261609	T	0.51325	0.71	5.72	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.68274	0.2983	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72704	-0.4213	10	0.72032	D	0.01	.	14.4954	0.67683	0.0704:0.0:0.9296:0.0	.	3337	O95714	HERC2_HUMAN	S	3337	ENSP00000261609:P3337S	ENSP00000261609:P3337S	P	-	1	0	HERC2	26093184	1.000000	0.71417	0.925000	0.36789	0.187000	0.23431	7.994000	0.88315	1.424000	0.47217	0.591000	0.81541	CCC	HERC2	-	NULL	ENSG00000128731		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	103	0	G	NM_004667		28419589	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	27.94	98	38	SNP	1.000	A	A	28419589	G	A	28419589	3	1	89	1	0	0	0	0	1	0	0	0	7085	1203	42	3	4611	3	HERC2	15	28419589	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2491079	28419589	74111803	243	25609											
MTMR10	54893	genome.wustl.edu	37	chr15	31253256	31253256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcctccatctcctgaggGaattccattaattttgtttg	7	17	6	11	0	1	1	0	1	1	0	6	2	5	2	5	1	0	1	5	1	2	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:31253256G>A	ENST00000435680.1	-	7	683	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	MTMR10_ENST00000425768.1_Silent_p.F165F|MTMR10_ENST00000563714.1_Missense_Mutation_p.P114S|MTMR10_ENST00000314404.8_5'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	196							phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		tctcctGAGGGAATTCCATTA	0.463																																																	0													28	26	27					15																	31253256		1874	4075	5949	SO:0001583	missense	0			AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.586C>T	15.37:g.31253256G>A	ENSP00000402537:p.Pro196Ser		Q6P4Q6	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom	p.P196S	ENST00000435680.1	37	c.586	CCDS45204.1	15	.	.	.	.	.	.	.	.	.	.	G	5.391	0.257343	0.10239	.	.	ENSG00000166912	ENST00000435680;ENST00000340566	D	0.84442	-1.85	5.15	-0.604	0.11626	.	0.257851	0.14629	N	0.307902	T	0.69124	0.3076	N	0.22421	0.69	0.40083	D	0.976167	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.51426	-0.8707	10	0.16420	T	0.52	.	6.0224	0.19636	0.4408:0.2886:0.2706:0.0	.	114;196	Q9NXD2-2;Q9NXD2	.;MTMRA_HUMAN	S	196;114	ENSP00000402537:P196S	ENSP00000340637:P114S	P	-	1	0	MTMR10	29040548	0.628000	0.27138	0.031000	0.17742	0.490000	0.33462	0.958000	0.29227	-0.067000	0.12976	-0.253000	0.11424	CCC	MTMR10	-	NULL	ENSG00000166912		0.463	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR10	HGNC	protein_coding	OTTHUMT00000430747.1		0	41	0	G	NM_017762		31253256	-1			no_errors	ENST00000435680	ensembl	human	known	74_37	missense	11.76	45	6	SNP	0.200	A	A	31253256	G	A	31253256	3	1	89	1	0	0	0	0	1	0	0	0	9977	1174	41	3	1787	3	MTMR10	15	31253256	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2833667	31253256	71278136	244	25610											
CASC5	57082	genome.wustl.edu	37	chr15	40947148	40947148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgttataggaagattgttGatgtcaattttcaatctctg	11	16	9	5	1	3	2	2	1	1	1	4	3	3	3	0	1	1	2	0	1	5	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:40947148G>T	ENST00000346991.5	+	23	6925	c.6535G>T	c.(6535-6537)Gat>Tat	p.D2179Y	CASC5_ENST00000399668.2_Missense_Mutation_p.D2153Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2179	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAAGATTGTTGATGTCAATTT	0.363																																																	0													131	124	127					15																	40947148		1827	4082	5909	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6535G>T	15.37:g.40947148G>T	ENSP00000335463:p.Asp2179Tyr		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.D2179Y	ENST00000346991.5	37	c.6535	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	G	10.23	1.294175	0.23564	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.06449	3.3;3.3	5.81	4.89	0.63831	.	0.588311	0.17531	N	0.170878	T	0.15219	0.0367	L	0.47716	1.5	0.09310	N	1	D;D	0.71674	0.998;0.993	D;P	0.63113	0.911;0.891	T	0.06303	-1.0834	10	0.72032	D	0.01	.	8.9013	0.35497	0.1688:0.0:0.8312:0.0	.	2153;2179	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	Y	2179;2153	ENSP00000335463:D2179Y;ENSP00000382576:D2153Y	ENSP00000335463:D2179Y	D	+	1	0	CASC5	38734440	0.948000	0.32251	0.059000	0.19551	0.250000	0.25880	1.489000	0.35562	1.451000	0.47736	0.655000	0.94253	GAT	CASC5	-	NULL	ENSG00000137812		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2		0	53	0	G	NM_144508		40947148	1			no_errors	ENST00000346991	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.118	T	T	40947148	G	T	40947148	3	4	89	1	0	0	0	0	1	0	0	0	2670	1290	45	3	6621	3	CASC5	15	40947148	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	9693892	40947148	61584244	245	25611											
FBN1	2200	genome.wustl.edu	37	chr15	48719785	48719785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccattggtcatgaatcCtcggccatggggacagagtt	8	11	12	10	1	1	2	1	1	0	1	4	3	3	3	3	4	1	2	3	4	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:48719785C>T	ENST00000316623.5	-	58	7638	c.7183G>A	c.(7183-7185)Gga>Aga	p.G2395R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2395					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTCATGAATCCTCGGCCATGG	0.468																																																	0													77	76	76					15																	48719785		2198	4296	6494	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7183G>A	15.37:g.48719785C>T	ENSP00000325527:p.Gly2395Arg		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G2395R	ENST00000316623.5	37	c.7183	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.267054	0.95399	.	.	ENSG00000166147	ENST00000316623	D	0.92397	-3.03	5.44	5.44	0.79542	Matrix fibril-associated (2);	0.103878	0.64402	D	0.000003	D	0.97056	0.9038	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97467	1.0038	10	0.72032	D	0.01	.	19.231	0.93841	0.0:1.0:0.0:0.0	.	2395	P35555	FBN1_HUMAN	R	2395	ENSP00000325527:G2395R	ENSP00000325527:G2395R	G	-	1	0	FBN1	46507077	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.720000	0.93068	0.650000	0.86243	GGA	FBN1	-	superfamily_TB_dom,pirsf_FBN	ENSG00000166147		0.468	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	68	0	C			48719785	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	48719785	C	T	48719785	3	4	89	1	0	0	0	0	1	0	0	0	5724	690	24	3	1468	3	FBN1	15	48719785	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	7772637	48719785	53811607	246	25612											
LEO1	123169	genome.wustl.edu	37	chr15	52239554	52239554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcttctgatccctcatCactgtctgatgaatagattc	9	16	5	11	0	6	4	2	3	4	1	8	4	7	4	1	0	0	0	1	0	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:52239554C>A	ENST00000299601.5	-	11	1891	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	LEO1_ENST00000315141.5_Missense_Mutation_p.D551Y	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	611					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GATCCCTCATCACTGTCTGAT	0.388																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													203	184	191					15																	52239554		2195	4293	6488	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1831G>T	15.37:g.52239554C>A	ENSP00000299601:p.Asp611Tyr		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.D611Y	ENST00000299601.5	37	c.1831	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	.	27.3	4.822250	0.90873	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.80553	-0.1331	9	0.87932	D	0	.	18.9907	0.92791	0.0:1.0:0.0:0.0	.	551;611	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	Y	611;589;551	.	ENSP00000299601:D611Y	D	-	1	0	LEO1	50026846	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.593000	0.82686	2.601000	0.87937	0.561000	0.74099	GAT	LEO1	-	pfam_Leo1	ENSG00000166477		0.388	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	-	0	59	0	C	NM_138792		52239554	-1	tier1	-	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A	A	52239554	C	A	52239554	3	1	89	1	0	0	0	0	1	0	0	0	8754	826	29	3	177	3	LEO1	15	52239554	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3519769	52239554	50291838	247	25613											
NEDD4	4734	genome.wustl.edu	37	chr15	56207921	56207921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacacaagaatatccttcaGatgacttttcacagacagtc	16	10	5	10	0	2	4	2	1	0	3	4	4	3	4	1	0	1	0	1	0	4	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:56207921G>C	ENST00000508342.1	-	1	1408	c.1109C>G	c.(1108-1110)tCt>tGt	p.S370C	NEDD4_ENST00000338963.2_Missense_Mutation_p.S370C|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Missense_Mutation_p.S370C	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	370					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATATCCTTCAGATGACTTTTC	0.403																																																	0													50	50	50					15																	56207921		2192	4291	6483	SO:0001583	missense	0			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"receptor-potentiating factor 1"	602278	"neural precursor cell expressed, developmentally down-regulated 4"			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1109C>G	15.37:g.56207921G>C	ENSP00000424827:p.Ser370Cys		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom	p.S370C	ENST00000508342.1	37	c.1109		15	.	.	.	.	.	.	.	.	.	.	G	8.531	0.871108	0.17322	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.47177	0.85;0.85;0.85	5.46	3.54	0.40534	.	.	.	.	.	T	0.38878	0.1057	L	0.47716	1.5	0.09310	N	1	P;P;P	0.44816	0.844;0.758;0.844	B;B;B	0.39379	0.298;0.156;0.298	T	0.22871	-1.0204	9	0.59425	D	0.04	.	7.2893	0.26356	0.0774:0.0:0.617:0.3056	.	370;370;370	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	C	370	ENSP00000424827:S370C;ENSP00000345530:S370C;ENSP00000422705:S370C	ENSP00000345530:S370C	S	-	2	0	NEDD4	53995213	0.995000	0.38212	0.002000	0.10522	0.122000	0.20287	8.126000	0.89592	0.653000	0.30826	-0.535000	0.04281	TCT	NEDD4	-	NULL	ENSG00000069869		0.403	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	-	0	43	0	G	NM_198400		56207921	-1	tier1	-	no_errors	ENST00000508342	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.002	C	C	56207921	G	C	56207921	3	2	89	1	0	0	0	0	1	0	0	0	10349	942	33	5	2950	5	NEDD4	15	56207921	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3968367	56207921	46323471	248	25614											
GCOM1	100820829	genome.wustl.edu	37	chr15	57922037	57922037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcgcaagttgaaaaccaGctgctaaaaatgaaggtgga	16	7	12	6	1	0	2	0	2	0	0	0	3	0	3	1	2	4	5	1	2	8	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:57922037G>T	ENST00000267853.5	+	6	757	c.663G>T	c.(661-663)caG>caT	p.Q221H	GCOM1_ENST00000380569.2_Missense_Mutation_p.Q221H|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q190H|GCOM1_ENST00000572390.1_Missense_Mutation_p.Q221H|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q221H|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q152H|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q221H|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q190H|GCOM1_ENST00000574161.1_Missense_Mutation_p.Q221H|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q221H			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	221					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											TTGAAAACCAGCTGCTAAAAA	0.413																																																	0													87	85	86					15																	57922037		2192	4292	6484	SO:0001583	missense	0			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"myocardium-enriched zonula adherens protein"	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.663G>T	15.37:g.57922037G>T	ENSP00000267853:p.Gln221His		D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	NULL	p.Q221H	ENST00000267853.5	37	c.663	CCDS10162.1	15	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775338	0.70107	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.43	4.51	0.55191	.	0.113770	0.64402	D	0.000009	T	0.46112	0.1376	L	0.54323	1.7	0.80722	D	1	P;P;P;P	0.51147	0.942;0.942;0.817;0.715	P;P;P;P	0.59595	0.785;0.86;0.785;0.785	T	0.41197	-0.9522	10	0.66056	D	0.02	-10.8445	13.5777	0.61883	0.078:0.0:0.922:0.0	.	221;221;221;221	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	H	221;190;190;152;221;221;221	ENSP00000369943:Q221H;ENSP00000369935:Q190H;ENSP00000379483:Q190H;ENSP00000369933:Q152H;ENSP00000267853:Q221H;ENSP00000369939:Q221H;ENSP00000369942:Q221H	ENSP00000267853:Q221H	Q	+	3	2	GCOM1	55709329	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.657000	0.54474	2.540000	0.85666	0.650000	0.86243	CAG	GCOM1	-	NULL	ENSG00000137878		0.413	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2		0	91	0	G	NM_001018100		57922037	1			no_errors	ENST00000380569	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	57922037	G	T	57922037	3	4	89	1	0	0	0	0	1	0	0	0	6329	962	34	3	685	3	GCOM1	15	57922037	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1714116	57922037	44609355	249	25615											
ALDH1A2	8854	genome.wustl.edu	37	chr15	58284937	58284937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaatgcaatcttgtctatgCcaatgtgagaagctattgct	11	14	9	7	0	2	2	0	2	2	1	2	3	2	2	1	0	4	3	1	0	6	4	rs114474932		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:58284937C>T	ENST00000249750.4	-	7	1531	c.764G>A	c.(763-765)gGc>gAc	p.G255D	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.G159D|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.G234D|ALDH1A2_ENST00000347587.3_Intron|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.G226D	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	255					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	CTTGTCTATGCCAATGTGAGA	0.478																																																	0													109	104	106					15																	58284937		2192	4292	6484	SO:0001583	missense	0			AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"Aldehyde dehydrogenases"	15472	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 2"	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.764G>A	15.37:g.58284937C>T	ENSP00000249750:p.Gly255Asp		B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.G255D	ENST00000249750.4	37	c.764	CCDS10163.1	15	.	.	.	.	.	.	.	.	.	.	C	6.018	0.371650	0.11409	.	.	ENSG00000128918	ENST00000249750;ENST00000430119;ENST00000543386;ENST00000537372	T;T	0.75050	-0.9;-0.9	5.65	3.74	0.42951	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	N	0.01576	-0.805	0.58432	D	0.999999	B;B;B	0.18166	0.026;0.021;0.01	B;B;B	0.19148	0.004;0.002;0.024	T	0.48779	-0.9005	10	0.02654	T	1	.	11.8499	0.52405	0.0:0.857:0.0:0.143	.	226;234;255	B4DH89;F5H2Y9;O94788	.;.;AL1A2_HUMAN	D	255;159;226;234	ENSP00000249750:G255D;ENSP00000438296:G234D	ENSP00000249750:G255D	G	-	2	0	ALDH1A2	56072229	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.653000	0.54446	1.633000	0.50488	0.655000	0.94253	GGC	ALDH1A2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000128918		0.478	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A2	HGNC	protein_coding	OTTHUMT00000255869.1	-	0	79	0	C			58284937	-1	tier1	rs114474932	no_errors	ENST00000249750	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	58284937	C	T	58284937	3	4	89	1	0	0	0	0	1	0	0	0	491	739	26	3	820	3	ALDH1A2	15	58284937	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	362900	58284937	44246455	250	25616											
PPIB	5479	genome.wustl.edu	37	chr15	64452363	64452363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgaagtccttgattacacGatggaatttgctgtttttgt	9	17	9	6	1	0	2	0	2	0	0	1	4	1	3	1	1	2	2	1	1	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:64452363G>A	ENST00000300026.3	-	3	501	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	95	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	TTGATTACACGATGGAATTTG	0.478																																					GBM(105;399 1481 32889 33051 36637)												0													183	146	159					15																	64452363		2203	4300	6503	SO:0001583	missense	0				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.283C>T	15.37:g.64452363G>A	ENSP00000300026:p.Arg95Cys		A8K534|Q6IBH5|Q9BVK5	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.R95C	ENST00000300026.3	37	c.283	CCDS10191.1	15	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459428	0.84317	.	.	ENSG00000166794	ENST00000300026	T	0.59083	0.29	5.14	5.14	0.70334	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);Peptidyl-prolyl cis-trans isomerase, cyclophilin-type, conserved site (1);	0.047913	0.85682	D	0.000000	D	0.86830	0.6027	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92734	0.6202	10	0.87932	D	0	.	18.1996	0.89833	0.0:0.0:1.0:0.0	.	95	P23284	PPIB_HUMAN	C	95	ENSP00000300026:R95C	ENSP00000300026:R95C	R	-	1	0	PPIB	62239416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.873000	0.69644	2.380000	0.81148	0.561000	0.74099	CGT	PPIB	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000166794		0.478	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	-	0	103	0	G			64452363	-1	tier1	-	no_errors	ENST00000300026	ensembl	human	known	74_37	missense	13.92	67	11	SNP	1.000	A	A	64452363	G	A	64452363	3	1	89	1	0	0	0	0	1	0	0	0	12361	1058	37	1	379	1	PPIB	15	64452363	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	6167426	64452363	38079029	251	25617											
SENP8	123228	genome.wustl.edu	37	chr15	72432295	72432295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttattggtctacctccaaGataaaaatagcttttttcat	12	17	5	7	0	2	1	1	0	1	1	3	1	3	1	2	1	2	2	2	1	7	9			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:72432295G>C	ENST00000542035.2	+	2	664	c.331G>C	c.(331-333)Gat>Cat	p.D111H	SENP8_ENST00000544171.1_Missense_Mutation_p.D111H|SENP8_ENST00000340912.4_Missense_Mutation_p.D111H|RP11-2I17.4_ENST00000568984.1_RNA|SENP8_ENST00000544411.1_Missense_Mutation_p.D111H	NM_001166340.1	NP_001159812.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	111	Protease.						cysteine-type peptidase activity (GO:0008234)			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CTACCTCCAAGATAAAAATAG	0.443																																																	0													61	66	64					15																	72432295		2199	4297	6496	SO:0001583	missense	0			BC031411	CCDS10240.1	15q22.33	2005-08-17	2005-08-17	2004-01-30	ENSG00000166192	ENSG00000166192			22992	protein-coding gene	gene with protein product	"NEDD8-specific protease 1", "sentrin/SUMO-specific protease SENP8", "deneddylase 1"	608659	"protease, cysteine, 2 (NEDD8 specific)", "SUMO/sentrin specific protease family member 8"	PRSC2		12730221, 12759362	Standard	NM_145204		Approved	NEDP1, DEN1, HsT17512	uc021spt.1	Q96LD8	OTTHUMG00000133441	ENST00000542035.2:c.331G>C	15.37:g.72432295G>C	ENSP00000446057:p.Asp111His		Q96QA4	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D111H	ENST00000542035.2	37	c.331	CCDS10240.1	15	.	.	.	.	.	.	.	.	.	.	G	11.03	1.518398	0.27211	.	.	ENSG00000166192	ENST00000542035;ENST00000544411;ENST00000340912;ENST00000544171	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.57	5.57	0.84162	.	0.583714	0.19155	N	0.121350	T	0.27967	0.0689	L	0.38175	1.15	0.47476	D	0.999434	B	0.06786	0.001	B	0.10450	0.005	T	0.02378	-1.1168	10	0.45353	T	0.12	-3.2274	15.4007	0.74838	0.0:0.1387:0.8613:0.0	.	111	Q96LD8	SENP8_HUMAN	H	111	ENSP00000446057:D111H;ENSP00000441753:D111H;ENSP00000340505:D111H;ENSP00000439415:D111H	ENSP00000340505:D111H	D	+	1	0	SENP8	70219349	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	3.539000	0.53604	2.773000	0.95371	0.655000	0.94253	GAT	SENP8	-	pfam_Peptidase_C48,pfscan_Peptidase_C48	ENSG00000166192		0.443	SENP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP8	HGNC	protein_coding	OTTHUMT00000420036.1	-	0	67	0	G	NM_145204		72432295	1	tier1	-	no_errors	ENST00000340912	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.996	C	C	72432295	G	C	72432295	3	2	89	1	0	0	0	0	1	0	0	0	14097	942	33	5	333	5	SENP8	15	72432295	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	7979932	72432295	30099097	252	25618											
BBS4	585	genome.wustl.edu	37	chr15	73002069	73002069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctattttggagaagcaGaactggttgattcatcttca	10	16	8	7	0	3	3	2	1	1	2	4	4	4	3	1	2	2	2	1	2	3	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:73002069G>T	ENST00000268057.4	+	3	146	c.105G>T	c.(103-105)caG>caT	p.Q35H	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.Q23H|BBS4_ENST00000395205.2_Missense_Mutation_p.Q43H|BBS4_ENST00000542334.1_5'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	35	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TGGAGAAGCAGAACTGGTTGA	0.388									Bardet-Biedl syndrome																																								0													145	145	145					15																	73002069		2198	4297	6495	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"Tetratricopeptide (TTC) repeat domain containing"	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.105G>T	15.37:g.73002069G>T	ENSP00000268057:p.Gln35His		B4E178|Q53DZ5|Q8NHU9|Q96H45	Nonsense_Mutation	SNP	NULL	p.E55*	ENST00000268057.4	37	c.163	CCDS10246.1	15	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224294	0.79576	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.54479	0.57;0.57;0.57	5.05	3.18	0.36537	.	0.165431	0.49916	D	0.000121	T	0.41259	0.1151	L	0.44542	1.39	0.80722	D	1	P;P;B	0.42123	0.526;0.771;0.26	B;B;B	0.43251	0.319;0.413;0.17	T	0.14952	-1.0454	10	0.15499	T	0.54	-2.1878	6.1381	0.20245	0.1696:0.1544:0.676:0.0	.	23;43;35	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	H	35;23;43	ENSP00000268057:Q35H;ENSP00000442492:Q23H;ENSP00000378631:Q43H	ENSP00000268057:Q35H	Q	+	3	2	BBS4	70789122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.402000	0.44521	0.542000	0.28846	0.655000	0.94253	CAG	BBS4	-	NULL	ENSG00000140463		0.388	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS4	HGNC	protein_coding	OTTHUMT00000257473.2	-	0	88	0	G	NM_033028		73002069	1	tier1	-	no_errors	ENST00000567279	ensembl	human	known	74_37	nonsense	8.86	72	7	SNP	1.000	T	T	73002069	G	T	73002069	3	4	89	1	0	0	0	0	1	0	0	0	1340	933	33	3	115	3	BBS4	15	73002069	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	569774	73002069	29529323	253	25619											
SGK269	79834	genome.wustl.edu	37	chr15	77425505	77425505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcccagccatgaaaaggtCttcgcatttaacagccagtt	11	10	8	12	1	1	1	0	1	1	0	2	1	1	1	3	1	4	2	3	1	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:77425505C>T	ENST00000560626.2	-	6	4394	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	PEAK1_ENST00000312493.4_Missense_Mutation_p.D1307N			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1307					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ATGAAAAGGTCTTCGCATTTA	0.483																																																	0													123	123	123					15																	77425505		1910	4116	6026	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3919G>A	15.37:g.77425505C>T	ENSP00000452796:p.Asp1307Asn		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.D1307N	ENST00000560626.2	37	c.3919	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.199060	0.94997	.	.	ENSG00000173517	ENST00000312493	T	0.32023	1.47	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	L	0.56769	1.78	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.54702	-0.8254	10	0.62326	D	0.03	-5.685	19.1871	0.93648	0.0:1.0:0.0:0.0	.	1307	Q9H792	PEAK1_HUMAN	N	1307	ENSP00000309230:D1307N	ENSP00000309230:D1307N	D	-	1	0	AC087465.1	75212560	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.818000	0.86416	2.536000	0.85505	0.655000	0.94253	GAC	PEAK1	-	NULL	ENSG00000173517		0.483	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3	-	0	132	0	C			77425505	-1	tier1	-	no_errors	ENST00000312493	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	77425505	C	T	77425505	3	4	89	1	0	0	0	0	1	0	0	0	14256	913	32	3	1329	3	SGK269	15	77425505	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	4423436	77425505	25105887	254	25620											
LINGO1	84894	genome.wustl.edu	37	chr15	77907918	77907918	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttgttgaaggcgccgggctCcacggcgctcacgatgttct	5	10	14	12	5	2	1	1	1	1	0	3	2	3	1	2	3	0	5	2	3	1	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:77907918C>G	ENST00000355300.6	-	2	505	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.E105Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	111					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GCGCCGGGCTCCACGGCGCTC	0.617																																																	0													39	44	42					15																	77907918		2053	4188	6241	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.331G>C	15.37:g.77907918C>G	ENSP00000347451:p.Glu111Gln		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E111Q	ENST00000355300.6	37	c.331	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395987	0.83011	.	.	ENSG00000169783	ENST00000355300	T	0.80214	-1.35	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86933	0.2074	10	0.45353	T	0.12	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	111	Q96FE5	LIGO1_HUMAN	Q	111	ENSP00000347451:E111Q	ENSP00000347451:E111Q	E	-	1	0	LINGO1	75694973	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.815000	0.86186	2.659000	0.90383	0.561000	0.74099	GAG	LINGO1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000169783		0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1	-	0	45	0	C	NM_032808		77907918	-1	tier1	-	no_errors	ENST00000355300	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	G	G	77907918	C	G	77907918	3	3	89	1	0	0	0	0	1	0	0	0	8844	864	30	5	1535	5	LINGO1	15	77907918	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	482413	77907918	24623474	255	25621											
IL16	3603	genome.wustl.edu	37	chr15	81558085	81558085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggcagccttactctctCtgcagtaacaggaagtccct	10	9	9	13	0	2	0	0	0	2	0	4	2	3	1	2	2	4	3	2	2	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:81558085C>T	ENST00000302987.4	+	3	507	c.507C>T	c.(505-507)ctC>ctT	p.L169L	IL16_ENST00000394660.2_Silent_p.L169L			Q14005	IL16_HUMAN	interleukin 16	169					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTTACTCTCTCTGCAGTAACA	0.488											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52	48	49					15																	81558085		1901	4121	6022	SO:0001819	synonymous_variant	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.507C>T	15.37:g.81558085C>T		1207	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	p.L169	ENST00000302987.4	37	c.507	CCDS42069.1	15																																																																																			IL16	-	NULL	ENSG00000172349		0.488	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	-	0	86	0	C	NM_172217		81558085	1	tier1	-	no_errors	ENST00000302987	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.951	T	T	81558085	C	T	81558085	2	4	89	1	0	0	0	0	0	0	0	1	7660	900	32	3		3	IL16	15	81558085	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3650167	81558085	20973307	256	25622											
IL16	3603	genome.wustl.edu	37	chr15	81561931	81561931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcagctcgtgcagccatCtgggggcctccaggcttcag	6	8	13	14	1	3	0	2	0	1	0	5	0	4	0	3	3	4	4	3	3	0	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:81561931C>G	ENST00000302987.4	+	4	617	c.617C>G	c.(616-618)tCt>tGt	p.S206C	IL16_ENST00000394660.2_Missense_Mutation_p.S206C			Q14005	IL16_HUMAN	interleukin 16	206	Interaction with GRIN2A.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTGCAGCCATCTGGGGGCCTC	0.577																																																	0													147	148	148					15																	81561931		1976	4156	6132	SO:0001583	missense	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.617C>G	15.37:g.81561931C>G	ENSP00000302935:p.Ser206Cys		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	p.S206C	ENST00000302987.4	37	c.617	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	C	11.66	1.705156	0.30232	.	.	ENSG00000172349	ENST00000394655;ENST00000394660;ENST00000355368;ENST00000302987	T;T	0.40756	1.02;1.02	4.98	4.07	0.47477	PDZ/DHR/GLGF (1);	0.181187	0.27100	N	0.020937	T	0.29288	0.0729	N	0.19112	0.55	0.42859	D	0.994107	B;B	0.28783	0.142;0.222	B;B	0.27715	0.037;0.082	T	0.11275	-1.0594	10	0.44086	T	0.13	.	13.7304	0.62783	0.0:0.9257:0.0:0.0743	.	206;206	Q14005;Q14005-2	IL16_HUMAN;.	C	206;206;38;206	ENSP00000378155:S206C;ENSP00000302935:S206C	ENSP00000302935:S206C	S	+	2	0	IL16	79348986	0.086000	0.21541	0.093000	0.20910	0.161000	0.22273	2.566000	0.45948	1.338000	0.45544	0.561000	0.74099	TCT	IL16	-	superfamily_PDZ	ENSG00000172349		0.577	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	-	0	64	0	C	NM_172217		81561931	1	tier1	-	no_errors	ENST00000302987	ensembl	human	known	74_37	missense	11.11	64	8	SNP	0.047	G	G	81561931	C	G	81561931	3	3	89	1	0	0	0	0	1	0	0	0	7660	913	32	5	631	5	IL16	15	81561931	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3846	81561931	20969461	257	25623											
IL16	3603	genome.wustl.edu	37	chr15	81595959	81595959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgggttcagcttggcaGgaggagcagatctagaaaac	11	9	14	7	0	3	2	1	0	2	2	3	4	3	4	0	4	3	4	0	4	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:81595959G>A	ENST00000302987.4	+	15	3388	c.3388G>A	c.(3388-3390)Gga>Aga	p.G1130R	IL16_ENST00000394652.2_Missense_Mutation_p.G429R|IL16_ENST00000394660.2_Missense_Mutation_p.G1130R|RP11-761I4.4_ENST00000607019.1_RNA			Q14005	IL16_HUMAN	interleukin 16	1130	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGCTTGGCAGGAGGAGCAGA	0.502																																																	0													170	152	158					15																	81595959		2203	4300	6503	SO:0001583	missense	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"Interleukins and interleukin receptors"	5980	protein-coding gene	gene with protein product	"prointerleukin 16", "lymphocyte chemoattractant factor"	603035	"interleukin 16 (lymphocyte chemoattractant factor)"			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3388G>A	15.37:g.81595959G>A	ENSP00000302935:p.Gly1130Arg		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	p.G1130R	ENST00000302987.4	37	c.3388	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749745	0.89753	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.37915	1.17;1.17;1.17	4.22	4.22	0.49857	PDZ/DHR/GLGF (4);	0.000000	0.42053	D	0.000770	T	0.72914	0.3520	H	0.96662	3.86	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.84256	0.0480	10	0.87932	D	0	.	16.8115	0.85722	0.0:0.0:1.0:0.0	.	962;623;667;520;1130;1130	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	R	1130;962;1130;667;520;429;429	ENSP00000378155:G1130R;ENSP00000302935:G1130R;ENSP00000378147:G429R	ENSP00000302935:G1130R	G	+	1	0	IL16	79383014	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.841000	0.92131	2.176000	0.68965	0.655000	0.94253	GGA	IL16	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	ENSG00000172349		0.502	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	-	0	65	0	G	NM_172217		81595959	1	tier1	-	no_errors	ENST00000302987	ensembl	human	known	74_37	missense	14.46	71	12	SNP	1.000	A	A	81595959	G	A	81595959	3	1	89	1	0	0	0	0	1	0	0	0	7660	1001	35	3	3446	3	IL16	15	81595959	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	34028	81595959	20935433	258	25624											
ALPK3	57538	genome.wustl.edu	37	chr15	85370715	85370715	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagctctttgcctctcttagGagcaccttctgctccatcat	6	15	6	14	0	4	0	1	0	3	0	6	1	5	1	3	1	4	3	3	1	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:85370715G>T	ENST00000258888.5	+	3	956	c.789G>T	c.(787-789)agG>agT	p.R263S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	263					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCTCTTAGGAGCACCTTCT	0.572																																																	0													96	77	84					15																	85370715		2203	4299	6502	SO:0001630	splice_region_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.789-1G>T	15.37:g.85370715G>T			Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.R263S	ENST00000258888.5	37	c.789	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453334	0.63290	.	.	ENSG00000136383	ENST00000258888	T	0.61742	0.08	5.52	4.61	0.57282	.	0.387563	0.24722	N	0.036132	T	0.59582	0.2204	L	0.29908	0.895	0.47308	D	0.999384	D	0.76494	0.999	P	0.60789	0.879	T	0.56860	-0.7909	9	.	.	.	.	11.8064	0.52158	0.0843:0.0:0.9157:0.0	.	263	Q96L96	ALPK3_HUMAN	S	263	ENSP00000258888:R263S	.	R	+	3	2	ALPK3	83171719	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.866000	0.75506	1.331000	0.45412	0.655000	0.94253	AGG	ALPK3	-	NULL	ENSG00000136383		0.572	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0	55	0	G	NM_020778	Missense_Mutation	85370715	1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	85370715	G	T	85370715	5	4	89	1	0	0	0	0	0	0	1	0	546	1188	41	3	799	3	ALPK3	15	85370715	Splice_Site	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3774756	85370715	17160677	259	25625											
KIF7	374654	genome.wustl.edu	37	chr15	90193070	90193070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttgtacacttccaggtagGacacatgtaccagacagtca	12	9	8	12	0	1	1	1	0	0	1	2	2	2	2	3	2	2	3	3	2	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:90193070G>A	ENST00000394412.3	-	3	507	c.431C>T	c.(430-432)tCc>tTc	p.S144F		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	144	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TTCCAGGTAGGACACATGTAC	0.587																																																	0													84	84	84					15																	90193070		689	1590	2279	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.431C>T	15.37:g.90193070G>A	ENSP00000377934:p.Ser144Phe		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S144F	ENST00000394412.3	37	c.431	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125132	0.56721	.	.	ENSG00000166813	ENST00000394412	T	0.79653	-1.29	5.0	4.07	0.47477	Kinesin, motor domain (4);	.	.	.	.	D	0.93380	0.7889	H	0.97829	4.085	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95576	0.8642	9	0.87932	D	0	.	15.3303	0.74203	0.0:0.1407:0.8593:0.0	.	144	Q2M1P5	KIF7_HUMAN	F	144	ENSP00000377934:S144F	ENSP00000377934:S144F	S	-	2	0	KIF7	87994074	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	9.795000	0.99099	1.072000	0.40860	-0.176000	0.13171	TCC	KIF7	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000166813		0.587	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	-	0	94	0	G	NM_198525		90193070	-1	tier1	-	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	90193070	G	A	90193070	3	1	89	1	0	0	0	0	1	0	0	0	8336	1174	41	3	3668	3	KIF7	15	90193070	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4822355	90193070	12338322	260	25626											
IQGAP1	8826	genome.wustl.edu	37	chr15	90992790	90992790	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattttctttgctttgctcaGagtggtcagactgaccccct	7	15	8	11	0	3	3	2	1	1	2	3	3	3	3	2	1	2	2	2	1	1	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:90992790G>C	ENST00000268182.5	+	11	1201		c.e11-1		IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1						cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCTTTGCTCAGAGTGGTCAGA	0.473																																																	0													73	73	73					15																	90992790		2198	4298	6496	SO:0001630	splice_region_variant	0			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"RasGAP-like with IQ motifs"	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1078-1G>C	15.37:g.90992790G>C			A7MBM3	Splice_Site	SNP	-	e11-1	ENST00000268182.5	37	c.1078-1	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395778	0.25205	.	.	ENSG00000140575	ENST00000268182	.	.	.	5.04	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1775	0.65552	0.0:0.0:0.8495:0.1505	.	.	.	.	.	-1	.	.	.	+	.	.	IQGAP1	88793794	1.000000	0.71417	0.484000	0.27391	0.269000	0.26545	5.834000	0.69361	1.354000	0.45846	0.557000	0.71058	.	IQGAP1	-	-	ENSG00000140575		0.473	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1		0	59	0	G	NM_003870	Intron	90992790	1			no_errors	ENST00000268182	ensembl	human	known	74_37	splice_site	5.26	54	3	SNP	0.996	C	C	90992790	G	C	90992790	5	2	89	1	0	0	0	0	0	0	1	0	7841	956	33	5	1119	5	IQGAP1	15	90992790	Splice_Site	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	799720	90992790	11538602	261	25627											
BLM	641	genome.wustl.edu	37	chr15	91292721	91292721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaagacttttccttcagtGaacctctacccaacaccaca	12	9	4	16	1	2	2	1	1	1	1	3	3	3	2	5	0	3	0	5	0	4	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:91292721G>A	ENST00000355112.3	+	3	341	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	BLM_ENST00000560509.1_Missense_Mutation_p.E75K	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	75					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TTCCTTCAGTGAACCTCTACC	0.368			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"L, E"	0													68	67	68					15																	91292721		2198	4298	6496	SO:0001583	missense	0	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"Bloom syndrome"			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.223G>A	15.37:g.91292721G>A	ENSP00000347232:p.Glu75Lys		Q52M96	Missense_Mutation	SNP	pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E75K	ENST00000355112.3	37	c.223	CCDS10363.1	15	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124559	0.37533	.	.	ENSG00000197299	ENST00000355112	T	0.40225	1.04	5.91	3.67	0.42095	.	0.607325	0.15793	N	0.244341	T	0.32224	0.0822	L	0.55481	1.735	0.09310	N	1	B;B	0.33266	0.404;0.192	B;B	0.24848	0.056;0.033	T	0.12863	-1.0531	10	0.27082	T	0.32	-15.2641	8.1266	0.31003	0.0946:0.1647:0.7407:0.0	.	75;75	B2RAN0;P54132	.;BLM_HUMAN	K	75	ENSP00000347232:E75K	ENSP00000347232:E75K	E	+	1	0	BLM	89093725	0.940000	0.31905	0.171000	0.22900	0.398000	0.30690	2.678000	0.46900	1.461000	0.47929	0.655000	0.94253	GAA	BLM	-	NULL	ENSG00000197299		0.368	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLM	HGNC	protein_coding	OTTHUMT00000313495.1	-	0	100	0	G			91292721	1	tier1	-	no_errors	ENST00000355112	ensembl	human	known	74_37	missense	6.32	88	6	SNP	0.093	A	A	91292721	G	A	91292721	3	1	89	1	0	0	0	0	1	0	0	0	1447	1291	45	3	229	3	BLM	15	91292721	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	299931	91292721	11238671	262	25628											
PCSK6	5046	genome.wustl.edu	37	chr15	101853633	101853633	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgggtagaagccctCaccacaggctggcacacact	9	8	9	15	0	3	1	1	0	2	1	3	1	3	1	2	3	1	3	2	3	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr15:101853633C>A	ENST00000348070.1	-	21	2643	c.2644G>T	c.(2644-2646)Gag>Tag	p.E882*	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Nonsense_Mutation_p.E869*	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	883	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TAGAAGCCCTCACCACAGGCT	0.577																																																	0													65	69	68					15																	101853633		2023	4192	6215	SO:0001587	stop_gained	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"subtilisin-like protease", "subtilisin-like proprotein convertase 4", "subtilisin/kexin-like protease PACE4"	167405	"paired basic amino acid cleaving system 4"	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2644G>T	15.37:g.101853633C>A	ENSP00000305056:p.Glu882*		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Nonsense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.E882*	ENST00000348070.1	37	c.2644		15	.	.	.	.	.	.	.	.	.	.	C	40	8.295089	0.98747	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	.	.	.	5.77	3.85	0.44370	.	0.415574	0.25938	N	0.027322	.	.	.	.	.	.	0.39344	D	0.965639	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-27.9735	9.278	0.37711	0.154:0.5478:0.2982:0.0	.	.	.	.	X	882;869;713	.	ENSP00000305056:E882X	E	-	1	0	PCSK6	99671156	0.748000	0.28294	0.525000	0.27900	0.930000	0.56654	1.217000	0.32455	0.744000	0.32741	0.655000	0.94253	GAG	PCSK6	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000140479		0.577	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		-	0	64	0	C	NM_002570		101853633	-1	tier1	-	no_errors	ENST00000348070	ensembl	human	known	74_37	nonsense	9.33	68	7	SNP	0.550	A	A	101853633	C	A	101853633	4	1	89	1	0	0	0	0	0	1	0	0	11643	835	29	3	503	3	PCSK6	15	101853633	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	10560912	101853633	677759	263	25629											
PPL	5493	genome.wustl.edu	37	chr16	4935905	4935905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtccagatttcttcCtgggtgctcttgacctcgtt	5	15	9	12	1	3	2	1	1	2	1	6	2	5	2	3	2	1	2	3	2	1	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:4935905C>A	ENST00000345988.2	-	22	2840	c.2751G>T	c.(2749-2751)caG>caT	p.Q917H	PPL_ENST00000590782.2_Missense_Mutation_p.Q915H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	917					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGATTTCTTCCTGGGTGCTCT	0.602																																																	0													89	94	92					16																	4935905		2197	4300	6497	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.2751G>T	16.37:g.4935905C>A	ENSP00000340510:p.Gln917His		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q917H	ENST00000345988.2	37	c.2751	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	C	12.75	2.030299	0.35797	.	.	ENSG00000118898	ENST00000345988	T	0.53206	0.63	5.07	5.07	0.68467	.	0.068693	0.64402	D	0.000012	T	0.60117	0.2244	M	0.67953	2.075	0.41580	D	0.988735	D	0.61080	0.989	P	0.57283	0.817	T	0.64728	-0.6339	10	0.72032	D	0.01	.	11.8881	0.52615	0.0:0.9197:0.0:0.0803	.	917	O60437	PEPL_HUMAN	H	917	ENSP00000340510:Q917H	ENSP00000340510:Q917H	Q	-	3	2	PPL	4875906	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	2.016000	0.40971	2.368000	0.80403	0.455000	0.32223	CAG	PPL	-	NULL	ENSG00000118898		0.602	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0	54	0	C	NM_002705		4935905	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	4935905	C	A	4935905	3	1	89	1	0	0	0	0	1	0	0	0	12376	680	24	3	2523	3	PPL	16	4935905	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		4935905	85418848	264	25630											
RRN3	54700	genome.wustl.edu	37	chr16	15165077	15165077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcctgcaattttttcCagagatgttccaaaaatgcc	10	14	8	9	0	0	1	0	0	0	1	3	2	3	1	4	1	2	2	4	1	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:15165077C>A	ENST00000198767.6	-	13	1243	c.1160G>T	c.(1159-1161)tGg>tTg	p.W387L	RRN3_ENST00000540462.1_Missense_Mutation_p.W205L|RRN3_ENST00000563559.1_Missense_Mutation_p.W387L|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000327307.7_Missense_Mutation_p.W354L|RRN3_ENST00000429751.2_Missense_Mutation_p.W357L	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	387					cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CAATTTTTTCCAGAGATGTTC	0.403																																																	0													86	95	92					16																	15165077		2197	4300	6497	SO:0001583	missense	0			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"RRN3 RNA polymerase I transcription factor homolog (yeast)"			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1160G>T	16.37:g.15165077C>A	ENSP00000198767:p.Trp387Leu		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Missense_Mutation	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.W387L	ENST00000198767.6	37	c.1160	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	.	27.4	4.830336	0.91036	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.54323	1.7	0.80722	D	1	B;P;D	0.58620	0.184;0.805;0.983	B;P;D	0.63381	0.148;0.688;0.914	T	0.41645	-0.9497	10	0.08837	T	0.75	.	19.0097	0.92868	0.0:1.0:0.0:0.0	.	357;288;387	F5H148;B4DZL9;Q9NYV6	.;.;RRN3_HUMAN	L	387;357;354;205	ENSP00000198767:W387L;ENSP00000402027:W357L;ENSP00000318484:W354L;ENSP00000437963:W205L	ENSP00000198767:W387L	W	-	2	0	RRN3	15072578	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.943000	0.75934	2.798000	0.96311	0.579000	0.79373	TGG	RRN3	-	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	ENSG00000085721		0.403	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	-	0	139	0	C	NM_018427		15165077	-1	tier1	-	no_errors	ENST00000198767	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A	A	15165077	C	A	15165077	3	1	89	1	0	0	0	0	1	0	0	0	13729	595	21	3	819	3	RRN3	16	15165077	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	10229172	15165077	75189676	265	25631											
USP31	57478	genome.wustl.edu	37	chr16	23080832	23080832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcagacagggaccatgaaGgtctcatgcaattttcattg	12	11	10	8	0	2	2	2	1	1	1	3	3	2	3	1	2	2	2	1	2	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:23080832G>T	ENST00000219689.7	-	16	2593	c.2594C>A	c.(2593-2595)cCt>cAt	p.P865H	USP31_ENST00000567975.1_Missense_Mutation_p.P158H	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGACCATGAAGGTCTCATGCA	0.498																																																	0													47	41	43					16																	23080832		2197	4300	6497	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"Ubiquitin-specific peptidases"	20060	protein-coding gene	gene with protein product			"ubiquitin specific protease 31"			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2594C>A	16.37:g.23080832G>T	ENSP00000219689:p.Pro865His		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P865H	ENST00000219689.7	37	c.2594	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716170	0.68844	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10005	2.92	6.16	5.22	0.72569	.	0.305993	0.30510	N	0.009469	T	0.28566	0.0707	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.947;0.995	T	0.01156	-1.1434	10	0.62326	D	0.03	-10.746	14.6245	0.68611	0.069:0.0:0.931:0.0	.	168;865;158	Q70CQ4-2;Q70CQ4;B3KS48	.;UBP31_HUMAN;.	H	865;168	ENSP00000219689:P865H	ENSP00000219689:P865H	P	-	2	0	USP31	22988333	1.000000	0.71417	0.886000	0.34754	0.990000	0.78478	9.476000	0.97823	1.631000	0.50456	0.650000	0.86243	CCT	USP31	-	NULL	ENSG00000103404		0.498	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1		0	74	0	G	NM_020718		23080832	-1			no_errors	ENST00000219689	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.999	T	T	23080832	G	T	23080832	3	4	89	1	0	0	0	0	1	0	0	0	17111	1000	35	3	1468	3	USP31	16	23080832	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	7915755	23080832	67273921	266	25632											
ITGAM	3684	genome.wustl.edu	37	chr16	31341910	31341910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgccgggacagggggCgtttgtgaggtcccaggtac	5	8	17	11	2	0	1	0	1	0	0	1	2	1	2	3	5	3	3	3	5	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:31341910C>T	ENST00000287497.8	+	28	3335	c.3260C>T	c.(3259-3261)gCg>gTg	p.A1087V	ITGAM_ENST00000544665.3_Missense_Mutation_p.A1088V			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1087					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GGACAGGGGGCGTTTGTGAGG	0.572																																																	0													42	41	42					16																	31341910		1948	4150	6098	SO:0001583	missense	0			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"CD molecules", "Complement system", "Integrins"	6149	protein-coding gene	gene with protein product		120980	"integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.3260C>T	16.37:g.31341910C>T	ENSP00000287497:p.Ala1087Val		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A1088V	ENST00000287497.8	37	c.3263	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087225	0.55968	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.58652	0.32;0.32	5.03	-3.38	0.04883	.	.	.	.	.	T	0.44685	0.1305	M	0.78049	2.395	0.09310	N	1	D;D	0.53619	0.961;0.961	B;B	0.29176	0.099;0.099	T	0.49560	-0.8927	9	0.72032	D	0.01	.	6.7037	0.23238	0.0:0.4248:0.1257:0.4495	.	1087;1087	Q4VAK1;P11215	.;ITAM_HUMAN	V	1088;1087	ENSP00000441691:A1088V;ENSP00000287497:A1087V	ENSP00000287497:A1087V	A	+	2	0	ITGAM	31249411	0.000000	0.05858	0.000000	0.03702	0.595000	0.36748	-0.939000	0.03933	-0.206000	0.10203	0.453000	0.30009	GCG	ITGAM	-	NULL	ENSG00000169896		0.572	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	-	0	53	0	C	NM_000632		31341910	1	tier1	-	no_errors	ENST00000544665	ensembl	human	known	74_37	missense	11.67	53	7	SNP	0.000	T	T	31341910	C	T	31341910	3	4	89	1	0	0	0	0	1	0	0	0	7914	768	27	1	3373	1	ITGAM	16	31341910	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	8261078	31341910	59012843	267	25633											
TOX3	27324	genome.wustl.edu	37	chr16	52480132	52480132	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctcttttctctccaatgGcctgcaaagcaggaagaaaa	13	9	8	11	0	2	1	0	0	2	1	4	2	3	2	2	2	3	3	2	2	5	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:52480132G>T	ENST00000219746.9	-	5	964	c.680C>A	c.(679-681)gCc>gAc	p.A227D	TOX3_ENST00000407228.3_Splice_Site_p.A222D	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	227					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTCTCCAATGGCCTGCAAAGC	0.423																																																	0													30	28	29					16																	52480132		1863	4132	5995	SO:0001630	splice_region_variant	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.679-1C>A	16.37:g.52480132G>T			B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A227D	ENST00000219746.9	37	c.680	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470718	0.43942	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10573	2.87;2.86	5.9	5.9	0.94986	.	0.222293	0.41823	D	0.000801	T	0.06735	0.0172	N	0.08118	0	0.37599	D	0.920491	P;B	0.35433	0.501;0.309	B;B	0.32289	0.143;0.107	T	0.45086	-0.9285	10	0.13108	T	0.6	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	222;227	B4DRD0;O15405	.;TOX3_HUMAN	D	227;222	ENSP00000219746:A227D;ENSP00000385705:A222D	ENSP00000219746:A227D	A	-	2	0	TOX3	51037633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.029000	0.64121	2.806000	0.96561	0.655000	0.94253	GCC	TOX3	-	NULL	ENSG00000103460		0.423	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	-	0	67	0	G	XM_049037	Missense_Mutation	52480132	-1	tier1	-	no_errors	ENST00000219746	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	T	T	52480132	G	T	52480132	5	4	89	1	0	0	0	0	0	0	1	0	16427	1217	42	3	1062	3	TOX3	16	52480132	Splice_Site	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	21138222	52480132	37874621	268	25634											
TOX3	27324	genome.wustl.edu	37	chr16	52553367	52553367	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctctcctcaatgcgcctgGctcccgagcgaggttggcac	5	9	12	15	3	2	0	1	0	1	0	5	2	4	0	3	3	2	3	3	3	1	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:52553367G>T	ENST00000219746.9	-	1	372				TOX3_ENST00000407228.3_Missense_Mutation_p.A9D	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3						apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						AATGCGCCTGGCTCCCGAGCG	0.478																																																	0													155	144	147					16																	52553367		692	1591	2283	SO:0001627	intron_variant	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.87+27181C>A	16.37:g.52553367G>T			B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A9D	ENST00000219746.9	37	c.26	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	3.509	-0.100158	0.07010	.	.	ENSG00000103460	ENST00000407228	T	0.10573	2.86	2.94	-1.58	0.08479	.	.	.	.	.	T	0.05227	0.0139	.	.	.	0.09310	N	1	B	0.23891	0.093	B	0.18561	0.022	T	0.41805	-0.9488	8	0.26408	T	0.33	.	2.9119	0.05739	0.3639:0.0:0.4379:0.1982	.	9	B4DRD0	.	D	9	ENSP00000385705:A9D	ENSP00000385705:A9D	A	-	2	0	TOX3	51110868	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.375000	0.20518	-0.292000	0.08999	0.563000	0.77884	GCC	TOX3	-	NULL	ENSG00000103460		0.478	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	-	0	98	0	G	XM_049037		52553367	-1	tier1	-	no_errors	ENST00000407228	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	T	T	52553367	G	T	52553367	1	4	89	0	1	0	0	0	0	0	0	0	16427	1203	42	3		3	TOX3	16	52553367	Intron	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	73235	52553367	37801386	269	25635											
CPNE2	221184	genome.wustl.edu	37	chr16	57171066	57171066	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttctcccgaggcaggtgtgGatggtattgcccaggcgtac	6	10	14	11	2	1	0	0	0	1	0	2	2	1	1	2	5	2	3	2	5	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:57171066G>C	ENST00000535318.2	+	15	1535	c.1174G>C	c.(1174-1176)Gat>Cat	p.D392H	CPNE2_ENST00000565951.1_Intron|CPNE2_ENST00000537605.1_Missense_Mutation_p.D290H|CPNE2_ENST00000565874.1_Missense_Mutation_p.D392H|CPNE2_ENST00000290776.8_Missense_Mutation_p.D392H			Q96FN4	CPNE2_HUMAN	copine II	392	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCAGGTGTGGATGGTATTGC	0.567																																																	0													119	67	84					16																	57171066		2198	4300	6498	SO:0001583	missense	0				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.1174G>C	16.37:g.57171066G>C	ENSP00000439018:p.Asp392His		Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.D392H	ENST00000535318.2	37	c.1174	CCDS10774.1	16	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595655	0.66219	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.23147	1.92;1.92;1.92	5.88	5.88	0.94601	von Willebrand factor, type A (1);Copine (1);	0.054852	0.64402	D	0.000001	T	0.46073	0.1374	M	0.71296	2.17	0.52099	D	0.999949	P;B	0.47484	0.896;0.109	P;B	0.52267	0.694;0.238	T	0.35773	-0.9775	10	0.66056	D	0.02	-21.7161	20.2422	0.98381	0.0:0.0:1.0:0.0	.	392;392	A8K8A4;Q96FN4	.;CPNE2_HUMAN	H	392;290;392	ENSP00000290776:D392H;ENSP00000445468:D290H;ENSP00000439018:D392H	ENSP00000290776:D392H	D	+	1	0	CPNE2	55728567	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	7.981000	0.88123	2.782000	0.95742	0.655000	0.94253	GAT	CPNE2	-	pfam_Copine,smart_VWF_A	ENSG00000140848		0.567	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPNE2	HGNC	protein_coding	OTTHUMT00000432986.2	-	0	119	0	G	NM_152727		57171066	1	tier1	-	no_errors	ENST00000290776	ensembl	human	known	74_37	missense	10.32	113	13	SNP	1.000	C	C	57171066	G	C	57171066	3	2	89	1	0	0	0	0	1	0	0	0	3819	1174	41	5	1224	5	CPNE2	16	57171066	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4617699	57171066	33183687	270	25636											
PDPR	55066	genome.wustl.edu	37	chr16	70154466	70154466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggatggcagaactggtcctCtgcaagaaacagcacgtcag	13	6	12	10	1	2	2	1	0	1	2	3	3	3	3	1	3	4	3	1	3	3	0	rs368906299		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:70154466C>T	ENST00000288050.4	+	3	1028	c.71C>T	c.(70-72)tCt>tTt	p.S24F	PDPR_ENST00000568530.1_Missense_Mutation_p.S24F|PDPR_ENST00000398122.3_Intron	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	24					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		AACTGGTCCTCTGCAAGAAAC	0.562																																																	0								C	PHE/SER	0,4234		0,0,2117	48	51	50		71	0.1	0	16		50	2,8482		0,2,4240	no	missense	PDPR	NM_017990.3	155	0,2,6357	TT,TC,CC		0.0236,0.0,0.0157	benign	24/880	70154466	2,12716	2117	4242	6359	SO:0001583	missense	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.71C>T	16.37:g.70154466C>T	ENSP00000288050:p.Ser24Phe		A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.S24F	ENST00000288050.4	37	c.71	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375486	0.24857	0.0	2.36E-4	ENSG00000090857	ENST00000288050	T	0.70516	-0.49	4.13	0.105	0.14535	.	0.747332	0.11727	N	0.535324	T	0.50222	0.1603	N	0.19112	0.55	0.09310	N	1	B	0.20550	0.046	B	0.18263	0.021	T	0.41805	-0.9488	10	0.56958	D	0.05	.	4.7108	0.12872	0.1969:0.5871:0.1264:0.0896	.	24	Q8NCN5	PDPR_HUMAN	F	24	ENSP00000288050:S24F	ENSP00000288050:S24F	S	+	2	0	PDPR	68711967	0.005000	0.15991	0.000000	0.03702	0.191000	0.23601	1.114000	0.31196	0.288000	0.22398	0.502000	0.49764	TCT	PDPR	-	NULL	ENSG00000090857		0.562	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	-	0	65	0	C	NM_017990		70154466	1	tier1	-	no_errors	ENST00000288050	ensembl	human	known	74_37	missense	9.80	92	10	SNP	0.000	T	T	70154466	C	T	70154466	3	4	89	1	0	0	0	0	1	0	0	0	11728	913	32	3	73	3	PDPR	16	70154466	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	12983400	70154466	20200287	271	25637											
COG4	25839	genome.wustl.edu	37	chr16	70551570	70551570	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttgctggacacattctCagccaggttgcaggtaaagg	11	10	11	9	0	1	0	1	0	1	0	2	1	1	1	1	4	4	4	1	4	3	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:70551570C>A	ENST00000323786.5	-	3	349	c.328G>T	c.(328-330)Gag>Tag	p.E110*	COG4_ENST00000393612.4_Nonsense_Mutation_p.E106*|COG4_ENST00000564653.1_Nonsense_Mutation_p.E110*	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	106	Interacts with STX5.				Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GACACATTCTCAGCCAGGTTG	0.428																																																	0													143	128	133					16																	70551570		2198	4300	6498	SO:0001587	stop_gained	0			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.328G>T	16.37:g.70551570C>A	ENSP00000315775:p.Glu110*		B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Nonsense_Mutation	SNP	pfam_COG_su4,smart_COG_su4	p.E110*	ENST00000323786.5	37	c.328	CCDS10892.2	16	.	.	.	.	.	.	.	.	.	.	c	29.5	5.014902	0.93404	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612;ENST00000534772	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-16.5364	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	110;106;106;33	.	ENSP00000315775:E110X	E	-	1	0	COG4	69109071	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.556000	0.82233	2.496000	0.84212	0.450000	0.29827	GAG	COG4	-	NULL	ENSG00000103051		0.428	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3	-	0	61	0	C			70551570	-1	tier1	-	no_errors	ENST00000323786	ensembl	human	known	74_37	nonsense	11.86	52	7	SNP	1.000	A	A	70551570	C	A	70551570	4	1	89	1	0	0	0	0	0	1	0	0	3667	835	29	3	2109	3	COG4	16	70551570	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	397104	70551570	19803183	272	25638											
GLG1	2734	genome.wustl.edu	37	chr16	74527017	74527017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaatcagcttttggcGggttgtaagtgcttctcgac	6	13	13	9	2	2	0	1	0	1	0	3	1	2	0	0	3	2	5	0	3	2	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr16:74527017G>A	ENST00000422840.2	-	7	1071	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	GLG1_ENST00000447066.2_Missense_Mutation_p.R347C|GLG1_ENST00000205061.5_Missense_Mutation_p.R358C	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	358					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AGCTTTTGGCGGGTTGTAAGT	0.443																																																	0													135	122	126					16																	74527017		2198	4300	6498	SO:0001583	missense	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1072C>T	16.37:g.74527017G>A	ENSP00000405984:p.Arg358Cys		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.R358C	ENST00000422840.2	37	c.1072	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844204	0.71488	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.52	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.77425	0.4128	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.79334	-0.1846	9	0.72032	D	0.01	-3.7566	13.3514	0.60603	0.0:0.0:0.7256:0.2744	.	358;358;347	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	C	358;347;358	.	ENSP00000205061:R358C	R	-	1	0	GLG1	73084518	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.174000	0.50847	2.744000	0.94065	0.655000	0.94253	CGC	GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.443	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0	110	0	G	NM_012201		74527017	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	missense	13.40	84	13	SNP	0.905	A	A	74527017	G	A	74527017	3	1	89	1	0	0	0	0	1	0	0	0	6462	1116	39	1	2627	1	GLG1	16	74527017	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3975447	74527017	15827736	273	25639											
ALOX15	246	genome.wustl.edu	37	chr17	4540525	4540525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgatcccatccagcaggGagaagtcagcttcgaacagt	11	8	10	12	1	1	2	1	1	0	1	4	4	3	2	3	1	3	2	3	1	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:4540525G>T	ENST00000570836.1	-	8	932	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	ALOX15_ENST00000293761.3_Missense_Mutation_p.S279Y|ALOX15_ENST00000574640.1_Missense_Mutation_p.S240Y|ALOX15_ENST00000545513.1_Missense_Mutation_p.S301Y			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	279	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		ATCCAGCAGGGAGAAGTCAGC	0.542																																																	0													82	75	77					17																	4540525		2203	4300	6503	SO:0001583	missense	0			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"Arachidonate lipoxygenases"	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.836C>A	17.37:g.4540525G>T	ENSP00000458832:p.Ser279Tyr		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.S301Y	ENST00000570836.1	37	c.902	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237640	0.58886	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.77358	-1.09;-1.09	3.74	1.67	0.24075	Lipoxygenase, C-terminal (3);	0.545188	0.17818	N	0.160973	T	0.77805	0.4185	M	0.63428	1.95	0.24250	N	0.995321	P;P;P	0.44260	0.83;0.774;0.774	P;P;P	0.52710	0.583;0.707;0.707	T	0.66991	-0.5783	10	0.54805	T	0.06	-2.8151	3.0336	0.06114	0.2467:0.0:0.5412:0.2121	.	301;240;279	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	Y	279;301	ENSP00000293761:S279Y;ENSP00000439855:S301Y	ENSP00000293761:S279Y	S	-	2	0	ALOX15	4487274	0.000000	0.05858	0.906000	0.35671	0.985000	0.73830	0.188000	0.17018	0.349000	0.23975	0.561000	0.74099	TCC	ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000161905		0.542	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2	-	0	76	0	G			4540525	-1	tier1	-	no_errors	ENST00000545513	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.972	T	T	4540525	G	T	4540525	3	4	89	1	0	0	0	0	1	0	0	0	538	1174	41	3	1184	3	ALOX15	17	4540525	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		4540525	76654685	274	25640											
CAMTA2	23125	genome.wustl.edu	37	chr17	4883117	4883117	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgatgaaagactgaaGggctccagttcactggcccc	11	7	13	10	0	1	4	1	3	0	1	2	5	2	5	3	3	0	2	3	3	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:4883117G>T	ENST00000348066.3	-	9	1623	c.1500C>A	c.(1498-1500)ccC>ccA	p.P500P	CAMTA2_ENST00000572543.1_Silent_p.P505P|CAMTA2_ENST00000381311.5_Silent_p.P502P|CAMTA2_ENST00000358183.4_Silent_p.P500P|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000361571.5_Silent_p.P499P|CAMTA2_ENST00000414043.3_Silent_p.P523P	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	500					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAAGACTGAAGGGCTCCAGTT	0.587																																																	0													126	125	125					17																	4883117		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1500C>A	17.37:g.4883117G>T			B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Silent	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.P523	ENST00000348066.3	37	c.1569	CCDS11063.1	17																																																																																			CAMTA2	-	NULL	ENSG00000108509		0.587	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	-	0	72	0	G	NM_015099		4883117	-1	tier1	-	no_errors	ENST00000414043	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.996	T	T	4883117	G	T	4883117	2	4	89	1	0	0	0	0	0	0	0	1	2621	987	35	3		3	CAMTA2	17	4883117	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	342592	4883117	76312093	275	25641											
FBXO39	162517	genome.wustl.edu	37	chr17	6683203	6683203	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatggacgaagaaagtGaactgatccagccccaagac	14	5	11	11	1	0	4	0	2	0	2	1	7	1	6	4	2	2	0	4	2	4	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:6683203G>T	ENST00000321535.4	+	2	146	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	6										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						CGAAGAAAGTGAACTGATCCA	0.532																																																	0													86	83	84					17																	6683203		2203	4300	6503	SO:0001587	stop_gained	0			BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"F-boxes /  "other""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.16G>T	17.37:g.6683203G>T	ENSP00000321386:p.Glu6*			Nonsense_Mutation	SNP	NULL	p.E6*	ENST00000321535.4	37	c.16	CCDS11082.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951383	0.73787	.	.	ENSG00000177294	ENST00000321535	.	.	.	5.29	3.27	0.37495	.	0.948982	0.08812	N	0.890071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-2.0624	13.5911	0.61961	0.0:0.207:0.793:0.0	.	.	.	.	X	6	.	ENSP00000321386:E6X	E	+	1	0	FBXO39	6623927	0.053000	0.20554	0.001000	0.08648	0.675000	0.39556	1.624000	0.37018	0.712000	0.32039	0.561000	0.74099	GAA	FBXO39	-	NULL	ENSG00000177294		0.532	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO39	HGNC	protein_coding	OTTHUMT00000219866.2	-	0	79	0	G	NM_153230		6683203	1	tier1	-	no_errors	ENST00000321535	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	0.002	T	T	6683203	G	T	6683203	4	4	89	1	0	0	0	0	0	1	0	0	5769	1291	45	3	18	3	FBXO39	17	6683203	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1800086	6683203	74512007	276	25642											
TP53	7157	genome.wustl.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	12	13	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCATCCAAATACTCCACACG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(1)											136	121	126					17																	7578235		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y205C	ENST00000269305.4	37	c.614	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	127	0	T	NM_000546		7578235	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	20.00	60	15	SNP	0.989	C	C	7578235	T	C	7578235	3	2	89	1	0	0	0	0	1	0	0	0	16429	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	895032	7578235	73616975	277	25643											
MYH1	4619	genome.wustl.edu	37	chr17	10416983	10416983	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagtttccctgtggtaccGaagtggatcctgatgaattt	8	13	11	9	1	0	2	0	2	0	0	2	4	2	3	4	2	1	2	4	2	3	3	rs565550881		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:10416983G>A	ENST00000226207.5	-	9	859	c.765C>T	c.(763-765)ttC>ttT	p.F255F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	255	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGTGGTACCGAAGTGGATCC	0.388													G|||	1	0.000199681	8e-04	0	5008	,	,		21800	0		0	False		,,,				2504	0																0													113	112	112					17																	10416983		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.765C>T	17.37:g.10416983G>A			Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F255	ENST00000226207.5	37	c.765	CCDS11155.1	17																																																																																			MYH1	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000109061		0.388	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	76	0	G	NM_005963		10416983	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	silent	13.89	62	10	SNP	0.999	A	A	10416983	G	A	10416983	2	1	89	1	0	0	0	0	0	0	0	1	10067	1049	37	1		1	MYH1	17	10416983	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2838748	10416983	70778227	278	25644											
NCOR1	9611	genome.wustl.edu	37	chr17	15995266	15995266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttcttgtctctgccgcTgctcctccaggagtgctgac	3	14	10	14	1	3	1	0	1	3	0	6	2	5	2	3	1	3	4	3	1	0	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:15995266T>G	ENST00000268712.3	-	22	3184	c.2927A>C	c.(2926-2928)cAg>cCg	p.Q976P	NCOR1_ENST00000395848.1_Missense_Mutation_p.Q883P|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q992P	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	976					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCTCTGCCGCTGCTCCTCCAG	0.483																																																	0													150	140	144					17																	15995266		2203	4300	6503	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"thyroid hormone- and retinoic acid receptor-associated corepressor 1", "protein phosphatase 1, regulatory subunit 109"	600849	"nuclear receptor co-repressor 1"			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2927A>C	17.37:g.15995266T>G	ENSP00000268712:p.Gln976Pro		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q976P	ENST00000268712.3	37	c.2927	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	T	17.51	3.407308	0.62399	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.38722	1.12;1.12;1.12	4.84	4.84	0.62591	.	0.166543	0.53938	D	0.000049	T	0.49558	0.1564	L	0.31578	0.945	0.80722	D	1	D;D;D;D	0.59357	0.978;0.985;0.963;0.978	D;P;P;P	0.66196	0.942;0.541;0.527;0.719	T	0.43261	-0.9402	10	0.34782	T	0.22	-7.6675	14.294	0.66300	0.0:0.0:0.0:1.0	.	883;883;976;992	E9PGV6;Q7Z516;O75376;O75376-2	.;.;NCOR1_HUMAN;.	P	976;992;883;883	ENSP00000268712:Q976P;ENSP00000379192:Q992P;ENSP00000379189:Q883P	ENSP00000268712:Q976P	Q	-	2	0	NCOR1	15935991	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.155000	0.64900	2.102000	0.63906	0.528000	0.53228	CAG	NCOR1	-	NULL	ENSG00000141027		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	-	0	59	0	T	NM_006311		15995266	-1	tier1	-	no_errors	ENST00000268712	ensembl	human	known	74_37	missense	13.85	56	9	SNP	1.000	G	G	15995266	T	G	15995266	3	3	89	1	0	0	0	0	1	0	0	0	10274	1580	55	4	4495	4	NCOR1	17	15995266	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	5578283	15995266	65199944	279	25645											
MED1	5469	genome.wustl.edu	37	chr17	37565965	37565965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaataagatcagctggatCagtgtatggattttcattat	12	15	9	5	0	3	1	3	0	0	1	3	3	3	3	0	2	2	3	0	2	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:37565965C>G	ENST00000300651.6	-	17	2732	c.2509G>C	c.(2509-2511)Gat>Cat	p.D837H	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCAGCTGGATCAGTGTATGGA	0.413										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													62	64	63					17																	37565965		2203	4300	6503	SO:0001583	missense	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2509G>C	17.37:g.37565965C>G	ENSP00000300651:p.Asp837His		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.D837H	ENST00000300651.6	37	c.2509	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333984	0.60853	.	.	ENSG00000125686	ENST00000300651	T	0.52754	0.65	6.03	6.03	0.97812	.	.	.	.	.	T	0.60353	0.2262	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61377	-0.7075	9	0.66056	D	0.02	-11.3418	20.5666	0.99351	0.0:1.0:0.0:0.0	.	837	Q15648	MED1_HUMAN	H	837	ENSP00000300651:D837H	ENSP00000300651:D837H	D	-	1	0	MED1	34819491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.786000	0.85741	2.854000	0.98071	0.655000	0.94253	GAT	MED1	-	NULL	ENSG00000125686		0.413	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	-	0	54	0	C	NM_004774		37565965	-1	tier1	-	no_errors	ENST00000300651	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G	G	37565965	C	G	37565965	3	3	89	1	0	0	0	0	1	0	0	0	9463	826	29	5	2240	5	MED1	17	37565965	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	21570699	37565965	43629245	280	25646											
PPY	5539	genome.wustl.edu	37	chr17	42018993	42018993	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggtggacaggagcagCagggagaggcagaggcgtgc	11	2	20	8	2	0	2	0	0	0	2	0	5	0	4	0	6	3	4	0	6	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:42018993C>A	ENST00000591228.1	-	2	117	c.30G>T	c.(28-30)ctG>ctT	p.L10L	PPY_ENST00000587006.1_Silent_p.L10L|PPY_ENST00000225992.3_Silent_p.L10L			P01298	PAHO_HUMAN	pancreatic polypeptide	10					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACAGGAGCAGCAGGGAGAGGC	0.657																																																	0													47	41	43					17																	42018993		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS11472.1	17q21.31	2013-02-28			ENSG00000108849	ENSG00000108849		"Endogenous ligands"	9327	protein-coding gene	gene with protein product	"pancreatic polypeptide Y", "prepro-PP (prepropancreatic polypeptide)"	167780				3753985	Standard	NM_002722		Approved	PNP	uc002iep.3	P01298		ENST00000591228.1:c.30G>T	17.37:g.42018993C>A				Silent	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.L10	ENST00000591228.1	37	c.30	CCDS11472.1	17																																																																																			PPY	-	NULL	ENSG00000108849		0.657	PPY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPY	HGNC	protein_coding	OTTHUMT00000457656.1		0	42	0	C	NM_002722		42018993	-1			no_errors	ENST00000225992	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.997	A	A	42018993	C	A	42018993	2	1	89	1	0	0	0	0	0	0	0	1	12457	697	25	3		3	PPY	17	42018993	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	4453028	42018993	39176217	281	25647											
C17orf46	124783	genome.wustl.edu	37	chr17	43333340	43333340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgactccagtaaagccGgcacctgtccgatctccagt	8	9	9	15	2	2	1	0	1	2	0	5	2	4	1	5	1	1	3	5	1	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:43333340G>A	ENST00000331780.4	-	4	304	c.209C>T	c.(208-210)cCg>cTg	p.P70L	MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.P49L|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	70					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											CAGTAAAGCCGGCACCTGTCC	0.572																																																	0													60	58	59					17																	43333340		2203	4300	6503	SO:0001583	missense	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.209C>T	17.37:g.43333340G>A	ENSP00000331532:p.Pro70Leu		Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	NULL	p.P70L	ENST00000331780.4	37	c.209	CCDS32669.1	17	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218896	0.39201	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.69806	-0.43;0.28	2.93	-1.14	0.09741	.	3.570230	0.00897	N	0.002307	T	0.40956	0.1138	N	0.14661	0.345	0.09310	N	1	P	0.42757	0.789	B	0.30251	0.113	T	0.42616	-0.9441	10	0.48119	T	0.1	.	2.0465	0.03561	0.3937:0.0:0.352:0.2542	.	70	Q96LK8	CQ046_HUMAN	L	70;49	ENSP00000331532:P70L;ENSP00000442724:P49L	ENSP00000331532:P70L	P	-	2	0	C17orf46	40689123	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.560000	0.05964	-0.041000	0.13558	-0.378000	0.06908	CCG	SPATA32	-	NULL	ENSG00000184361		0.572	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1		0	25	0	G	NM_152343		43333340	-1			no_errors	ENST00000331780	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.000	A	A	43333340	G	A	43333340	3	1	89	1	0	0	0	0	1	0	0	0	1863	1116	39	1	953	1	C17orf46	17	43333340	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1314347	43333340	37861870	282	25648											
KIAA1267	284058	genome.wustl.edu	37	chr17	44109060	44109060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaggtccgccgctcccaggGctggacagactgtaggcaga	9	5	15	12	2	0	2	0	0	0	2	2	4	2	3	3	4	0	4	3	4	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:44109060G>A	ENST00000262419.6	-	15	3570	c.3100C>T	c.(3100-3102)Ccc>Tcc	p.P1034S	KANSL1_ENST00000572904.1_Missense_Mutation_p.P1034S|KANSL1_ENST00000432791.1_Missense_Mutation_p.P1034S|KANSL1_ENST00000393476.3_Missense_Mutation_p.P328S|KANSL1_ENST00000574590.1_Missense_Mutation_p.P1034S|KANSL1_ENST00000575318.1_Missense_Mutation_p.P970S	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1034	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CGCTCCCAGGGCTGGACAGAC	0.657																																																	0													21	21	21					17																	44109060		2201	4299	6500	SO:0001583	missense	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3100C>T	17.37:g.44109060G>A	ENSP00000262419:p.Pro1034Ser		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.P1034S	ENST00000262419.6	37	c.3100	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716039	0.89205	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	T;T;T	0.53640	0.61;0.61;0.61	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.69479	0.964;0.964;0.948;0.948	T	0.56721	-0.7932	10	0.45353	T	0.12	-10.06	18.0627	0.89382	0.0:0.0:1.0:0.0	.	302;365;1034;1034	B3KT49;Q7Z3B3-2;C9JHY2;Q7Z3B3	.;.;.;K1267_HUMAN	S	1034;1034;328	ENSP00000262419:P1034S;ENSP00000387393:P1034S;ENSP00000377117:P328S	ENSP00000262419:P1034S	P	-	1	0	KIAA1267	41464907	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.460000	0.97641	2.604000	0.88044	0.561000	0.74099	CCC	KANSL1	-	NULL	ENSG00000120071		0.657	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	-	0	69	0	G	NM_015443		44109060	-1	tier1	-	no_errors	ENST00000262419	ensembl	human	known	74_37	missense	11.86	52	7	SNP	1.000	A	A	44109060	G	A	44109060	3	1	89	1	0	0	0	0	1	0	0	0	8246	1203	42	3	221	3	KIAA1267	17	44109060	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	775720	44109060	37086150	283	25649											
CDC27	996	genome.wustl.edu	37	chr17	45209685	45209685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaagcgctttttggaaatGcatttctgcaaggctgaatt	11	14	9	7	1	2	1	1	1	1	0	2	2	2	2	0	2	3	4	0	2	4	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:45209685G>T	ENST00000066544.3	-	15	2062	c.1969C>A	c.(1969-1971)Cat>Aat	p.H657N	CDC27_ENST00000531206.1_Missense_Mutation_p.H663N|CDC27_ENST00000446365.2_Missense_Mutation_p.H596N|CDC27_ENST00000527547.1_Missense_Mutation_p.H656N	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	657					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.H663Y(1)|p.H657Y(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTTTGGAAATGCATTTCTGCA	0.294																																																	2	Substitution - Missense(2)	kidney(2)											80	82	81					17																	45209685		2203	4299	6502	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1969C>A	17.37:g.45209685G>T	ENSP00000066544:p.His657Asn		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H663N	ENST00000066544.3	37	c.1987	CCDS11509.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.785072|4.785072	0.90282|0.90282	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000526866|ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T|T;T;T;T	0.49720|0.60548	0.77|0.18;0.18;0.18;0.18	5.57|5.57	5.57|5.57	0.84162|0.84162	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68714|0.68714	0.3031|0.3031	L|L	0.49350|0.49350	1.555|1.555	0.80722|0.80722	D|D	1|1	.|D;P;P;P	.|0.63880	.|0.993;0.933;0.933;0.946	.|P;P;P;P	.|0.59761	.|0.863;0.693;0.693;0.796	T|T	0.69495|0.69495	-0.5130|-0.5130	7|10	0.39692|0.62326	T|D	0.17|0.03	-24.4514|-24.4514	17.3985|17.3985	0.87453|0.87453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|596;656;663;657	.|B4DL80;G5EA36;G3V1C4;P30260	.|.;.;.;CDC27_HUMAN	E|N	338|657;663;596;656	ENSP00000432105:A338E|ENSP00000066544:H657N;ENSP00000434614:H663N;ENSP00000392802:H596N;ENSP00000437339:H656N	ENSP00000432105:A338E|ENSP00000066544:H657N	A|H	-|-	2|1	0|0	CDC27|CDC27	42564684|42564684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.806000|9.806000	0.99153|0.99153	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	GCA|CAT	CDC27	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004897		0.294	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0	91	0	G			45209685	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	45209685	G	T	45209685	3	4	89	1	0	0	0	0	1	0	0	0	3073	1319	46	3	525	3	CDC27	17	45209685	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1100625	45209685	35985525	284	25650											
TTLL6	284076	genome.wustl.edu	37	chr17	46882291	46882291	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttccccttcctggctttCcaaagtcgggcactgtggca	5	13	10	13	1	0	0	0	0	0	0	4	0	3	0	4	3	0	4	4	3	1	4	rs533233446	byFrequency	TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:46882291C>A	ENST00000393382.3	-	2	307	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TTLL6_ENST00000470462.2_5'Flank	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCCTGGCTTTCCAAAGTCGGG	0.577											OREG0024527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	64	66					17																	46882291		692	1591	2283	SO:0001587	stop_gained	0			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"Tubulin tyrosine ligase-like family"	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.166G>T	17.37:g.46882291C>A	ENSP00000377043:p.Glu56*	942		Nonsense_Mutation	SNP	pfam_TTL/TTLL_fam	p.E56*	ENST00000393382.3	37	c.166	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725815	0.48833	.	.	ENSG00000170703	ENST00000440941;ENST00000393382;ENST00000456415;ENST00000418322	.	.	.	5.08	4.09	0.47781	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5117	0.50496	0.0:0.8193:0.1807:0.0	.	.	.	.	X	56;8;8;58	.	ENSP00000365871:E8X	E	-	1	0	TTLL6	44237290	0.009000	0.17119	0.016000	0.15963	0.043000	0.13939	1.189000	0.32114	1.460000	0.47911	0.655000	0.94253	GAA	TTLL6	-	NULL	ENSG00000170703		0.577	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	-	0	80	0	C	NM_173623		46882291	-1	tier1	-	no_errors	ENST00000393382	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	0.066	A	A	46882291	C	A	46882291	4	1	89	1	0	0	0	0	0	1	0	0	16780	864	30	3	2646	3	TTLL6	17	46882291	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1672606	46882291	34312919	285	25651											
EME1	146956	genome.wustl.edu	37	chr17	48452978	48452978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcatcatgtgactggaaaAagccctttccaaagatccct	12	10	8	11	0	1	2	1	1	0	1	3	3	3	3	3	1	2	1	3	1	3	1	rs76993288|rs36080231|rs558756129|rs3060668	byFrequency	TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:48452978A>C	ENST00000338165.4	+	2	491	c.409A>C	c.(409-411)Aag>Cag	p.K137Q	EME1_ENST00000393271.2_Missense_Mutation_p.K137Q|MRPL27_ENST00000507088.1_5'Flank|EME1_ENST00000511648.2_Missense_Mutation_p.K137Q|MRPL27_ENST00000225969.4_5'Flank|MRPL27_ENST00000442592.3_5'Flank|MRPL27_ENST00000503633.1_5'Flank	NM_152463.2	NP_689676.2	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	137					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGACTGGAAAAAGCCCTTTCC	0.473								Direct reversal of damage;Homologous recombination																																									0													77	81	80					17																	48452978		2203	4300	6503	SO:0001583	missense	0			BC016470	CCDS11565.1, CCDS54141.1	17q21.33	2013-07-03	2013-07-03			ENSG00000154920			24965	protein-coding gene	gene with protein product	"SLX2 structure-specific endonuclease subunit homolog A (S. cerevisiae)"	610885	"essential meiotic endonuclease 1 homolog 1 (S. pombe)"			12721304	Standard	NM_001166131		Approved	FLJ31364, MMS4L, SLX2A	uc010dbp.2	Q96AY2		ENST00000338165.4:c.409A>C	17.37:g.48452978A>C	ENSP00000339897:p.Lys137Gln		Q96N62	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.K137Q	ENST00000338165.4	37	c.409	CCDS11565.1	17	.	.	.	.	.	.	.	.	.	.	A	10.79	1.448556	0.26074	.	.	ENSG00000154920	ENST00000338165;ENST00000393271;ENST00000511648	T;T;T	0.10573	2.87;2.86;2.86	4.58	1.04	0.20106	.	0.639993	0.14457	N	0.318426	T	0.05914	0.0154	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.28850	0.225;0.144	B;B	0.20955	0.032;0.014	T	0.37314	-0.9711	10	0.21540	T	0.41	-21.2574	4.6392	0.12540	0.6446:0.1673:0.1881:0.0	.	137;137	Q96AY2-2;Q96AY2	.;EME1_HUMAN	Q	137	ENSP00000339897:K137Q;ENSP00000376952:K137Q;ENSP00000421700:K137Q	ENSP00000339897:K137Q	K	+	1	0	EME1	45807977	0.000000	0.05858	0.932000	0.37286	0.879000	0.50718	0.151000	0.16283	0.788000	0.33755	0.533000	0.62120	AAG	EME1	-	NULL	ENSG00000154920		0.473	EME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EME1	HGNC	protein_coding	OTTHUMT00000367118.3		0	74	0	A	NM_152463		48452978	1			no_errors	ENST00000393271	ensembl	human	known	74_37	missense	9.72	65	7	SNP	0.140	C	C	48452978	A	C	48452978	3	2	89	1	0	0	0	0	1	0	0	0	5104	15	1	4	411	4	EME1	17	48452978	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	1570687	48452978	32742232	286	25652											
ABCC3	8714	genome.wustl.edu	37	chr17	48746804	48746804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagccctgaaccccaagcGctaccagcagactctggagg	12	4	10	15	1	1	2	0	1	1	1	1	3	1	3	4	2	5	2	4	2	4	1	rs143749403		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:48746804G>T	ENST00000285238.8	+	17	2236	c.2156G>T	c.(2155-2157)cGc>cTc	p.R719L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	719	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AACCCCAAGCGCTACCAGCAG	0.577																																																	0								G	LEU/ARG	3,4403	6.2+/-15.9	0,3,2200	104	98	100		2156	4.4	1	17	dbSNP_134	100	0,8600		0,0,4300	no	missense	ABCC3	NM_003786.3	102	0,3,6500	TT,TG,GG		0.0,0.0681,0.0231	possibly-damaging	719/1528	48746804	3,13003	2203	4300	6503	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2156G>T	17.37:g.48746804G>T	ENSP00000285238:p.Arg719Leu		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R719L	ENST00000285238.8	37	c.2156	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	G	8.950	0.968061	0.18659	6.81E-4	0.0	ENSG00000108846	ENST00000285238	D	0.90504	-2.68	4.36	4.36	0.52297	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.265811	0.32068	N	0.006631	D	0.86723	0.6001	L	0.35341	1.055	0.43069	D	0.994704	P	0.46395	0.877	P	0.50708	0.648	D	0.83613	0.0135	10	0.31617	T	0.26	-22.3821	5.4386	0.16496	0.2503:0.0:0.7497:0.0	.	719	O15438	MRP3_HUMAN	L	719	ENSP00000285238:R719L	ENSP00000285238:R719L	R	+	2	0	ABCC3	46101803	0.996000	0.38824	1.000000	0.80357	0.805000	0.45488	1.738000	0.38207	2.436000	0.82500	0.313000	0.20887	CGC	ABCC3	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc	ENSG00000108846		0.577	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	-	0	86	0	G	NM_020038		48746804	1	tier1	-	no_errors	ENST00000285238	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	48746804	G	T	48746804	3	4	89	1	0	0	0	0	1	0	0	0	54	1087	38	2	2306	2	ABCC3	17	48746804	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	293826	48746804	32448406	287	25653											
MPO	4353	genome.wustl.edu	37	chr17	56349125	56349125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgccgcccatccagatgtCgatgttgttgggcgtgccat	6	10	12	13	4	0	1	0	0	0	1	2	2	1	1	4	1	1	2	4	1	0	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:56349125C>G	ENST00000225275.3	-	11	2097	c.1921G>C	c.(1921-1923)Gac>Cac	p.D641H	MPO_ENST00000340482.3_Missense_Mutation_p.D673H	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	641					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	ATCCAGATGTCGATGTTGTTG	0.622																																																	0													103	70	81					17																	56349125		2203	4300	6503	SO:0001583	missense	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1921G>C	17.37:g.56349125C>G	ENSP00000225275:p.Asp641His		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.D673H	ENST00000225275.3	37	c.2017	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961574	0.92791	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.80566	-1.39;-1.39	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.93396	0.7894	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95561	0.8629	10	0.87932	D	0	-39.4228	17.6717	0.88220	0.0:1.0:0.0:0.0	.	641	P05164	PERM_HUMAN	H	673;641	ENSP00000344419:D673H;ENSP00000225275:D641H	ENSP00000225275:D641H	D	-	1	0	MPO	53704124	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	7.797000	0.85911	2.420000	0.82092	0.563000	0.77884	GAC	MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	ENSG00000005381		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0	71	0	C			56349125	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	29.41	48	20	SNP	1.000	G	G	56349125	C	G	56349125	3	3	89	1	0	0	0	0	1	0	0	0	9770	884	31	5	324	5	MPO	17	56349125	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	7602321	56349125	24846085	288	25654											
MTMR4	9110	genome.wustl.edu	37	chr17	56585555	56585555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggaatccgcttccaggagCggaaggaagccacgttctcc	9	6	13	13	4	1	0	0	0	1	0	4	4	3	4	4	4	2	2	4	4	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:56585555C>T	ENST00000323456.5	-	8	756	c.632G>A	c.(631-633)cGc>cAc	p.R211H	MTMR4_ENST00000579925.1_Missense_Mutation_p.R211H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	211	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCCAGGAGCGGAAGGAAGC	0.537																																																	0													73	69	70					17																	56585555		2203	4300	6503	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.632G>A	17.37:g.56585555C>T	ENSP00000325285:p.Arg211His		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.R211H	ENST00000323456.5	37	c.632	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.719483	0.96839	.	.	ENSG00000108389	ENST00000323456	D	0.94828	-3.53	5.53	5.53	0.82687	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99425	1.0934	10	0.87932	D	0	.	18.8095	0.92053	0.0:1.0:0.0:0.0	.	211	Q9NYA4	MTMR4_HUMAN	H	211	ENSP00000325285:R211H	ENSP00000325285:R211H	R	-	2	0	MTMR4	53940554	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.758000	0.85224	2.775000	0.95449	0.650000	0.86243	CGC	MTMR4	-	pfam_Myotubularin-like_Pase_dom	ENSG00000108389		0.537	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	-	0	69	0	C	NM_004687		56585555	-1	tier1	-	no_errors	ENST00000323456	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	T	T	56585555	C	T	56585555	3	4	89	1	0	0	0	0	1	0	0	0	9984	768	27	1	3003	1	MTMR4	17	56585555	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	236430	56585555	24609655	289	25655											
KCNH6	81033	genome.wustl.edu	37	chr17	61622620	61622620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagggctttctgcctcctGcacaggtaagaggtgagggg	7	8	15	11	0	1	2	0	1	1	1	2	2	2	2	3	5	2	3	3	5	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:61622620G>A	ENST00000583023.1	+	13	2697	c.2686G>A	c.(2686-2688)Gca>Aca	p.A896T	KCNH6_ENST00000456941.2_Missense_Mutation_p.A807T|KCNH6_ENST00000581784.1_Missense_Mutation_p.A807T|KCNH6_ENST00000314672.5_Missense_Mutation_p.A860T	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	896					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCTGCCTCCTGCACAGGTAAG	0.617																																																	0													42	42	42					17																	61622620		2203	4300	6503	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2686G>A	17.37:g.61622620G>A	ENSP00000463533:p.Ala896Thr		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.A896T	ENST00000583023.1	37	c.2686	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811791	0.32053	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99220	-5.58	5.08	4.11	0.48088	.	0.694155	0.13335	N	0.395628	D	0.97542	0.9195	L	0.44542	1.39	0.30146	N	0.803477	B;B;B;B	0.20887	0.001;0.003;0.002;0.049	B;B;B;B	0.21151	0.002;0.005;0.005;0.033	D	0.96257	0.9188	10	0.21014	T	0.42	.	12.8009	0.57586	0.0786:0.0:0.9214:0.0	.	737;860;807;896	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	T	896;807	ENSP00000396900:A807T	ENSP00000318212:A896T	A	+	1	0	KCNH6	58976352	0.004000	0.15560	0.982000	0.44146	0.195000	0.23768	0.072000	0.14617	1.509000	0.48786	0.655000	0.94253	GCA	KCNH6	-	NULL	ENSG00000173826		0.617	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0	77	0	G	NM_030779		61622620	1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	6.67	84	6	SNP	1.000	A	A	61622620	G	A	61622620	3	1	89	1	0	0	0	0	1	0	0	0	8063	1319	46	3	2736	3	KCNH6	17	61622620	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5037065	61622620	19572590	290	25656											
MAP3K3	4215	genome.wustl.edu	37	chr17	61735181	61735181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgaaaaaccaagatGatcttgataaagcaattgac	16	10	7	8	0	1	5	0	4	1	1	2	5	2	5	2	0	3	2	2	0	6	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:61735181G>T	ENST00000361733.3	+	5	615	c.295G>T	c.(295-297)Gat>Tat	p.D99Y	MAP3K3_ENST00000584573.1_Missense_Mutation_p.D130Y|MAP3K3_ENST00000577395.1_Missense_Mutation_p.D99Y|MAP3K3_ENST00000579585.1_Missense_Mutation_p.D130Y|MAP3K3_ENST00000361357.3_Missense_Mutation_p.D130Y	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	99	OPR.				activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AAACCAAGATGATCTTGATAA	0.358																																																	0													89	81	84					17																	61735181		2203	4300	6503	SO:0001583	missense	0			U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6855	protein-coding gene	gene with protein product	"MAP/ERK kinase kinase 3", "MAPK/ERK kinase kinase 3"	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.295G>T	17.37:g.61735181G>T	ENSP00000354485:p.Asp99Tyr		B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D130Y	ENST00000361733.3	37	c.388	CCDS32702.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585256	0.86748	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.50813	0.73;0.73	5.95	5.95	0.96441	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.72494	-0.4276	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	99;67;99;130	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	Y	130;99	ENSP00000354927:D130Y;ENSP00000354485:D99Y	ENSP00000354927:D130Y	D	+	1	0	MAP3K3	59088913	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.870000	0.87175	2.827000	0.97445	0.650000	0.86243	GAT	MAP3K3	-	pfam_OPR_PB1,smart_OPR_PB1	ENSG00000198909		0.358	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	MAP3K3	HGNC	protein_coding	OTTHUMT00000443867.1	-	0	82	0	G	NM_002401		61735181	1	tier1	-	no_errors	ENST00000361357	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	61735181	G	T	61735181	3	4	89	1	0	0	0	0	1	0	0	0	9289	1290	45	3	410	3	MAP3K3	17	61735181	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	112561	61735181	19460029	291	25657											
PRPSAP1	5635	genome.wustl.edu	37	chr17	74326692	74326692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgtccacaggaaagctGaaaaagccttgtatttcctt	12	12	9	8	0	0	1	0	1	0	0	2	2	2	2	3	2	2	3	3	2	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:74326692G>A	ENST00000446526.3	-	5	964	c.519C>T	c.(517-519)ttC>ttT	p.F173F	PRPSAP1_ENST00000324684.4_Silent_p.F70F	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	144					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAGGAAAGCTGAAAAAGCCTT	0.393																																																	0													93	90	91					17																	74326692		2203	4300	6503	SO:0001819	synonymous_variant	0			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.519C>T	17.37:g.74326692G>A			B2R6M4|Q96H06	Silent	SNP	tigrfam_Rib-P_diPkinase	p.F173	ENST00000446526.3	37	c.519	CCDS11743.2	17																																																																																			PRPSAP1	-	tigrfam_Rib-P_diPkinase	ENSG00000161542		0.393	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP1	HGNC	protein_coding	OTTHUMT00000342480.2	-	0	116	0	G	NM_002766		74326692	-1	tier1	-	no_errors	ENST00000446526	ensembl	human	known	74_37	silent	22.73	68	20	SNP	1.000	A	A	74326692	G	A	74326692	2	1	89	1	0	0	0	0	0	0	0	1	12623	1281	45	3		3	PRPSAP1	17	74326692	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	12591511	74326692	6868518	292	25658											
TNRC6C	57690	genome.wustl.edu	37	chr17	76046827	76046827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatgcttggagtggggccGcaaatcaggaggacaagtca	11	6	15	9	1	2	0	2	0	0	0	2	3	2	3	2	5	1	2	2	5	2	1	rs200217894		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:76046827G>T	ENST00000588061.1	+	5	2411	c.1684G>T	c.(1684-1686)Gca>Tca	p.A562S	TNRC6C_ENST00000335749.4_Missense_Mutation_p.A562S|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A562S|TNRC6C_ENST00000588847.1_Missense_Mutation_p.A562S|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A562S|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A562S			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	562	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGTGGGGCCGCAAATCAGGA	0.582																																																	0													53	59	57					17																	76046827		2028	4188	6216	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"Trinucleotide (CAG) repeat containing"	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1684G>T	17.37:g.76046827G>T	ENSP00000468647:p.Ala562Ser		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A562S	ENST00000588061.1	37	c.1684	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	G	2.587	-0.296180	0.05532	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14266	2.52;2.53;2.53;2.52	5.75	3.79	0.43588	.	0.922167	0.09205	N	0.834117	T	0.10895	0.0266	L	0.29908	0.895	0.25749	N	0.98507	B;B;B	0.27068	0.123;0.167;0.104	B;B;B	0.28849	0.082;0.095;0.027	T	0.37478	-0.9704	10	0.09843	T	0.71	0.8073	10.4778	0.44676	0.2076:0.0:0.7924:0.0	.	562;562;562	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	S	562	ENSP00000336783:A562S;ENSP00000301624:A562S;ENSP00000440310:A562S;ENSP00000442421:A562S	ENSP00000301624:A562S	A	+	1	0	TNRC6C	73558422	0.864000	0.29904	0.557000	0.28306	0.995000	0.86356	3.175000	0.50855	0.800000	0.34041	0.655000	0.94253	GCA	TNRC6C	-	NULL	ENSG00000078687		0.582	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	-	0	58	0	G	NM_018996		76046827	1	tier1	-	no_errors	ENST00000335749	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.723	T	T	76046827	G	T	76046827	3	4	89	1	0	0	0	0	1	0	0	0	16389	1087	38	2	1686	2	TNRC6C	17	76046827	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1720135	76046827	5148383	293	25659											
RNF213	57674	genome.wustl.edu	37	chr17	78306030	78306030	+	Frame_Shift_Del	DEL	A	A	-																															cagagccgctgagtgagcctAaggaggaccaggaagccgca																										TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:78306030delA	ENST00000582970.1	+	21	3885	c.3742delA	c.(3742-3744)aagfs	p.K1248fs	RNF213_ENST00000508628.2_Frame_Shift_Del_p.K1297fs|RNF213_ENST00000456466.1_Frame_Shift_Del_p.K1248fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1248					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGTGAGCCTAAGGAGGACCA	0.537																																																	0													19	20	20					17																	78306030		692	1591	2283	SO:0001589	frameshift_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.3742delA	17.37:g.78306030delA	ENSP00000464087:p.Lys1248fs		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.K1248fs	ENST00000582970.1	37	c.3742	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.537	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	78	0	A	NM_020914		78306030	1	tier1		no_errors	ENST00000582970	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.000	-	-	78306030	A	-	78306030	7	5	89	1	0	1	0	1	0	0	0	0	13522	363	13	0	4139	0	RNF213	17	78306030	Frame_Shift_Del	DEL	A	TCGA-L5-A8NQ-01A-11D-A36J-09	2259203	78306030	2889180	294	25660											
RNF213	57674	genome.wustl.edu	37	chr17	78311486	78311486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccacggccatcaaccaaaGaggcatctatgtgatccagg	12	6	11	12	1	2	2	1	1	1	1	3	2	3	2	4	4	1	1	4	4	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:78311486G>C	ENST00000582970.1	+	24	4771	c.4628G>C	c.(4627-4629)aGa>aCa	p.R1543T	RNF213_ENST00000508628.2_Missense_Mutation_p.R1592T|RNF213_ENST00000336301.6_5'Flank	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1543					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATCAACCAAAGAGGCATCTAT	0.607																																																	0													42	39	40					17																	78311486		692	1591	2283	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.4628G>C	17.37:g.78311486G>C	ENSP00000464087:p.Arg1543Thr		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.R1543T	ENST00000582970.1	37	c.4628	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	3.624	-0.076962	0.07184	.	.	ENSG00000173821	ENST00000508628;ENST00000411702	.	.	.	4.66	-4.48	0.03515	.	.	.	.	.	T	0.41789	0.1174	L	0.43152	1.355	0.30193	N	0.799326	.	.	.	.	.	.	T	0.53634	-0.8411	6	0.62326	D	0.03	.	8.1165	0.30946	0.5089:0.1055:0.3856:0.0	.	.	.	.	T	1543;1592	.	ENSP00000396478:R1592T	R	+	2	0	RNF213	75926081	0.192000	0.23301	0.000000	0.03702	0.029000	0.11900	0.502000	0.22594	-0.775000	0.04584	-0.258000	0.10820	AGA	RNF213	-	NULL	ENSG00000173821		0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	57	0	G	NM_020914		78311486	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.201	C	C	78311486	G	C	78311486	3	2	89	1	0	0	0	0	1	0	0	0	13522	942	33	5	5037	5	RNF213	17	78311486	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5456	78311486	2883724	295	25661											
NPTX1	4884	genome.wustl.edu	37	chr17	78445639	78445639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaggcctcccagacccCgtcccgggtggtccaggtga	5	7	14	15	2	0	2	0	1	0	1	3	2	3	2	6	5	0	1	6	5	1	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:78445639C>T	ENST00000306773.4	-	4	1127	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	324	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TCCCAGACCCCGTCCCGGGTG	0.622																																																	0													56	45	49					17																	78445639		2203	4300	6503	SO:0001583	missense	0			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.970G>A	17.37:g.78445639C>T	ENSP00000307549:p.Gly324Arg		B3KXH3|Q5FWE6	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G324R	ENST00000306773.4	37	c.970	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.262824	0.95399	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.22945	1.93	5.02	5.02	0.67125	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74203	-0.3741	10	0.87932	D	0	-31.6303	18.1318	0.89604	0.0:1.0:0.0:0.0	.	324	Q15818	NPTX1_HUMAN	R	324;86	ENSP00000307549:G324R	ENSP00000307549:G324R	G	-	1	0	NPTX1	76060234	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.582000	0.82546	2.607000	0.88179	0.561000	0.74099	GGG	NPTX1	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000171246		0.622	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	HGNC	protein_coding	OTTHUMT00000438051.1	-	0	130	0	C			78445639	-1	tier1	-	no_errors	ENST00000306773	ensembl	human	known	74_37	missense	10.53	102	12	SNP	1.000	T	T	78445639	C	T	78445639	3	4	89	1	0	0	0	0	1	0	0	0	10641	652	23	1	336	1	NPTX1	17	78445639	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	134153	78445639	2749571	296	25662											
HGS	9146	genome.wustl.edu	37	chr17	79667621	79667621	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagcctactcccacagcGggctaccaggtacacaggaa	12	5	9	15	1	0	0	0	0	0	0	1	1	1	1	4	3	6	2	4	3	5	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr17:79667621G>T	ENST00000329138.4	+	19	2142	c.2007G>T	c.(2005-2007)gcG>gcT	p.A669A	MRPL12_ENST00000333676.3_5'Flank|SLC25A10_ENST00000541223.1_5'Flank|SLC25A10_ENST00000571730.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	669	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.A669A(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CTCCCACAGCGGGCTACCAGG	0.711																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											23	28	26					17																	79667621		2203	4296	6499	SO:0001819	synonymous_variant	0			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"Zinc fingers, FYVE domain containing"	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2007G>T	17.37:g.79667621G>T			Q9NR36	Silent	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.A669	ENST00000329138.4	37	c.2007	CCDS11784.1	17																																																																																			HGS	-	pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.711	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1		0	44	0	G	NM_004712		79667621	1			no_errors	ENST00000329138	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.866	T	T	79667621	G	T	79667621	2	4	89	1	0	0	0	0	0	0	0	1	7114	1103	39	2		2	HGS	17	79667621	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1221982	79667621	1527589	297	25663											
VAPA	9218	genome.wustl.edu	37	chr18	9945046	9945046	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagtgtgttgaaacaggaGaaacagaaggtttgttatag	14	11	12	4	0	1	3	1	1	0	2	1	4	1	3	0	2	2	3	0	2	5	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr18:9945046G>A	ENST00000400000.2	+	5	672				VAPA_ENST00000584796.1_Intron|VAPA_ENST00000340541.4_Silent_p.E181E	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa						cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						TGAAACAGGAGAAACAGAAGG	0.433																																																	0													129	116	120					18																	9945046		1904	4121	6025	SO:0001627	intron_variant	0				CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.418-5346G>A	18.37:g.9945046G>A			A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Silent	SNP	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	p.E181	ENST00000400000.2	37	c.543	CCDS11848.2	18																																																																																			VAPA	-	pirsf_Vesicle-associated_membrane	ENSG00000101558		0.433	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPA	HGNC	protein_coding	OTTHUMT00000254490.1	-	0	90	0	G			9945046	1	tier1	-	no_errors	ENST00000340541	ensembl	human	known	74_37	silent	10.11	80	9	SNP	1.000	A	A	9945046	G	A	9945046	1	1	89	0	1	0	0	0	0	0	0	0	17170	933	33	3		3	VAPA	18	9945046	Intron	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		9945046	68132202	298	25664											
PSMG2	56984	genome.wustl.edu	37	chr18	12725469	12725469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtatctgcctcacggtGgaaaataccaagttcttgga	12	10	9	10	1	3	0	1	0	2	0	3	2	3	2	2	3	2	2	2	3	5	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr18:12725469G>C	ENST00000317615.6	+	7	1416	c.734G>C	c.(733-735)tGg>tCg	p.W245S	PSMG2_ENST00000585331.2_Missense_Mutation_p.W214S	NM_020232.4	NP_064617.2			proteasome (prosome, macropain) assembly chaperone 2											lung(1)|prostate(2)|skin(1)	4						GCCTCACGGTGGAAAATACCA	0.358																																																	0													155	156	156					18																	12725469		2203	4300	6503	SO:0001583	missense	0			AF276707	CCDS11862.1, CCDS67440.1	18p11.21	2012-01-25	2007-10-23	2007-10-23	ENSG00000128789	ENSG00000128789			24929	protein-coding gene	gene with protein product	"hepatocellular carcinoma susceptibility protein", "CD40 ligand-activated specific transcript 3"	609702	"tumor necrosis factor superfamily, member 5-induced protein 1"	TNFSF5IP1		11854909, 12147697, 17189198	Standard	NM_147163		Approved	HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2	uc002krk.3	Q969U7	OTTHUMG00000131703	ENST00000317615.6:c.734G>C	18.37:g.12725469G>C	ENSP00000325919:p.Trp245Ser			Missense_Mutation	SNP	pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk	p.W245S	ENST00000317615.6	37	c.734	CCDS11862.1	18	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250111	0.80024	.	.	ENSG00000128789	ENST00000317615	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.84101	0.5398	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85652	0.1283	9	0.87932	D	0	-3.5278	19.4842	0.95022	0.0:0.0:1.0:0.0	.	245	Q969U7	PSMG2_HUMAN	S	245	.	ENSP00000325919:W245S	W	+	2	0	PSMG2	12715469	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	7.354000	0.79424	2.777000	0.95525	0.591000	0.81541	TGG	PSMG2	-	pirsf_Proteasome_assmbl_chp_2_euk	ENSG00000128789		0.358	PSMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG2	HGNC	protein_coding	OTTHUMT00000254615.1	-	0	155	0	G	NM_020232		12725469	1	tier1	-	no_errors	ENST00000317615	ensembl	human	known	74_37	missense	12.32	121	17	SNP	1.000	C	C	12725469	G	C	12725469	3	2	89	1	0	0	0	0	1	0	0	0	12754	1357	47	5	760	5	PSMG2	18	12725469	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2780423	12725469	65351779	299	25665											
DSG3	1830	genome.wustl.edu	37	chr18	29036436	29036436	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatggagaattgcgaataGaggtaaagtatgaaaaaggt	17	10	12	2	1	1	3	1	1	0	2	1	5	1	3	0	3	1	2	0	3	8	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr18:29036436G>C	ENST00000257189.4	+	2	165	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	28					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGCGAATAGAGGTAAAGTA	0.229																																																	0													59	62	61					18																	29036436		2198	4283	6481	SO:0001583	missense	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.82G>C	18.37:g.29036436G>C	ENSP00000257189:p.Glu28Gln		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.E28Q	ENST00000257189.4	37	c.82	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840117	0.32513	.	.	ENSG00000134757	ENST00000257189	T	0.60548	0.18	5.58	0.344	0.16006	.	0.638010	0.13637	N	0.373279	T	0.37679	0.1012	N	0.21194	0.64	0.23320	N	0.997917	B	0.20368	0.044	B	0.18871	0.023	T	0.19877	-1.0292	10	0.22109	T	0.4	.	8.2271	0.31575	0.1569:0.4328:0.4103:0.0	.	28	P32926	DSG3_HUMAN	Q	28	ENSP00000257189:E28Q	ENSP00000257189:E28Q	E	+	1	0	DSG3	27290434	1.000000	0.71417	0.636000	0.29352	0.756000	0.42949	1.004000	0.29822	0.010000	0.14839	0.655000	0.94253	GAG	DSG3	-	NULL	ENSG00000134757		0.229	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	-	0	201	0	G	NM_001944		29036436	1	tier1	-	no_errors	ENST00000257189	ensembl	human	known	74_37	missense	11.20	110	14	SNP	0.813	C	C	29036436	G	C	29036436	3	2	89	1	0	0	0	0	1	0	0	0	4792	943	33	5	88	5	DSG3	18	29036436	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	16310967	29036436	49040812	300	25666											
DSG3	1830	genome.wustl.edu	37	chr18	29039116	29039116	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaacaaattttcatgggtGaaattgaagaaaatagtgcc	17	10	8	6	0	1	3	1	2	0	1	1	3	1	3	1	1	2	0	1	1	7	4	rs542631283		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr18:29039116G>C	ENST00000257189.4	+	5	576	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	165	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTCATGGGTGAAATTGAAGA	0.323																																																	0													62	66	65					18																	29039116		2202	4299	6501	SO:0001583	missense	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.493G>C	18.37:g.29039116G>C	ENSP00000257189:p.Glu165Gln		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.E165Q	ENST00000257189.4	37	c.493	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171706	0.38315	.	.	ENSG00000134757	ENST00000257189	T	0.52983	0.64	5.39	4.46	0.54185	Cadherin (4);Cadherin-like (1);	0.135801	0.33327	N	0.005035	T	0.26882	0.0658	N	0.10664	0.02	0.29337	N	0.866306	B	0.32968	0.392	B	0.33960	0.173	T	0.15321	-1.0441	10	0.35671	T	0.21	.	10.5483	0.45072	0.0:0.1235:0.697:0.1795	.	165	P32926	DSG3_HUMAN	Q	165	ENSP00000257189:E165Q	ENSP00000257189:E165Q	E	+	1	0	DSG3	27293114	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	3.718000	0.54919	2.677000	0.91161	0.655000	0.94253	GAA	DSG3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000134757		0.323	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	-	0	129	0	G	NM_001944		29039116	1	tier1	-	no_errors	ENST00000257189	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	C	C	29039116	G	C	29039116	3	2	89	1	0	0	0	0	1	0	0	0	4792	1291	45	5	511	5	DSG3	18	29039116	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2680	29039116	49038132	301	25667											
SETBP1	26040	genome.wustl.edu	37	chr18	42529939	42529940	+	Frame_Shift_Ins	INS	-	-	A																															cttaaaaccaaagcaccagcINSaaaaaagcagcagccagaac																								rs79615803		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr18:42529939_42529940insA	ENST00000282030.5	+	4	930_931	c.634_635insA	c.(634-636)caafs	p.Q212fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	212						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAAGCACCAGCAAAAAAGCAGC	0.525									Schinzel-Giedion syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.640dupA	18.37:g.42529945_42529945dupA	ENSP00000282030:p.Gln212fs		A6H8W5|Q6P6C3|Q9UEF3	Frame_Shift_Ins	INS	smart_AT_hook_DNA-bd_motif	p.S214fs	ENST00000282030.5	37	c.634_635	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.525	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4		0	58	0	-	NM_001130110		42529940	1	tier1		no_errors	ENST00000282030	ensembl	human	known	74_37	frame_shift_ins	5.26	36	2	INS	1.000:1.000	A	A	42529940	-	A	42529939	7	5	89	1	0	1	1	0	0	0	0	0	14174	711	25	0	837	0	SETBP1	18	42529939	Frame_Shift_Ins	INS	-	TCGA-L5-A8NQ-01A-11D-A36J-09	13490823	42529939	35547309	302	25668											
ST8SIA3	51046	genome.wustl.edu	37	chr18	55020185	55020185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgtgtccctgaaaaaggaGaacatcttcaccactcccaa	14	8	6	13	1	2	2	1	1	1	1	4	3	4	2	3	1	2	0	3	1	5	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr18:55020185G>A	ENST00000324000.3	+	1	2142	c.108G>A	c.(106-108)gaG>gaA	p.E36E		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	36					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGAAAAAGGAGAACATCTTCA	0.597																																																	0													78	77	77					18																	55020185		2203	4300	6503	SO:0001819	synonymous_variant	0			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.108G>A	18.37:g.55020185G>A			A8K0F2|Q6B085|Q9NS41	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E36	ENST00000324000.3	37	c.108	CCDS32834.1	18																																																																																			ST8SIA3	-	pirsf_Sialyl_trans	ENSG00000177511		0.597	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	-	0	78	0	G	NM_015879		55020185	1	tier1	-	no_errors	ENST00000324000	ensembl	human	known	74_37	silent	8.89	41	4	SNP	1.000	A	A	55020185	G	A	55020185	2	1	89	1	0	0	0	0	0	0	0	1	15280	933	33	3		3	ST8SIA3	18	55020185	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	12490246	55020185	23057063	303	25669											
LINGO3	645191	genome.wustl.edu	37	chr19	2290967	2290967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgaggcaggtgaggtgcGcctggtgccgcagcgcggcg	5	6	20	10	5	0	2	0	2	0	0	0	3	0	2	2	5	3	2	2	5	0	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:2290967G>T	ENST00000585527.1	-	1	1056	c.809C>A	c.(808-810)gCg>gAg	p.A270E	LINGO3_ENST00000404279.1_Missense_Mutation_p.A270E			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	270						integral component of membrane (GO:0016021)				lung(1)|urinary_tract(1)	2						GGTGAGGTGCGCCTGGTGCCG	0.731																																																	0													13	16	15					19																	2290967		2028	4106	6134	SO:0001583	missense	0			AK091795	CCDS45905.1	19p13.3	2013-01-11	2007-02-01	2007-02-01		ENSG00000220008		"Immunoglobulin superfamily / I-set domain containing"	21206	protein-coding gene	gene with protein product		609792	"leucine rich repeat neuronal 6B"	LRRN6B		14686891	Standard	NM_001101391		Approved	LERN2	uc010dsx.1	P0C6S8		ENST00000585527.1:c.809C>A	19.37:g.2290967G>T	ENSP00000467753:p.Ala270Glu			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A270E	ENST00000585527.1	37	c.809	CCDS45905.1	19	.	.	.	.	.	.	.	.	.	.	g	12.43	1.936706	0.34189	.	.	ENSG00000220008	ENST00000404279	T	0.55413	0.52	4.18	1.99	0.26369	.	.	.	.	.	T	0.39091	0.1065	N	0.17082	0.46	0.40264	D	0.978213	P	0.50617	0.937	P	0.58391	0.838	T	0.54227	-0.8325	9	0.02654	T	1	.	2.9723	0.05926	0.3124:0.0:0.4886:0.199	.	270	P0C6S8	LIGO3_HUMAN	E	270	ENSP00000384979:A270E	ENSP00000384979:A270E	A	-	2	0	LINGO3	2241967	0.997000	0.39634	0.888000	0.34837	0.869000	0.49853	2.591000	0.46163	0.222000	0.20900	-0.521000	0.04368	GCG	LINGO3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000220008		0.731	LINGO3-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	LINGO3	HGNC	protein_coding	OTTHUMT00000451291.2	-	0	11	0	G	NM_001101391		2290967	-1	tier1	-	no_errors	ENST00000404279	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.900	T	T	2290967	G	T	2290967	3	4	89	1	0	0	0	0	1	0	0	0	8846	1087	38	2	973	2	LINGO3	19	2290967	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		2290967	56838016	304	25670											
FZR1	51343	genome.wustl.edu	37	chr19	3525967	3525967	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagagccggagccaactgGagcgtgaacttccacaggat	11	6	12	12	2	0	2	0	1	0	1	2	5	2	5	4	3	5	0	4	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:3525967G>A	ENST00000395095.3	+	2	171	c.171G>A	c.(169-171)tgG>tgA	p.W57*	FZR1_ENST00000313639.8_Nonsense_Mutation_p.W57*|FZR1_ENST00000441788.2_Nonsense_Mutation_p.W57*	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	57					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCCAACTGGAGCGTGAACT	0.672																																																	0													37	37	37					19																	3525967		2201	4298	6499	SO:0001587	stop_gained	0			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"WD repeat domain containing"	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.171G>A	19.37:g.3525967G>A	ENSP00000378529:p.Trp57*		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W57*	ENST00000395095.3	37	c.171	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.941390	0.97128	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-25.3484	16.142	0.81534	0.0:0.0:1.0:0.0	.	.	.	.	X	57	.	ENSP00000321800:W57X	W	+	3	0	FZR1	3476967	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.525000	0.98039	2.130000	0.65690	0.561000	0.74099	TGG	FZR1	-	NULL	ENSG00000105325		0.672	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	-	0	66	0	G	NM_016263		3525967	1	tier1	-	no_errors	ENST00000395095	ensembl	human	known	74_37	nonsense	7.41	50	4	SNP	1.000	A	A	3525967	G	A	3525967	4	1	89	1	0	0	0	0	0	1	0	0	6162	1183	41	3	177	3	FZR1	19	3525967	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1235000	3525967	55603016	305	25671											
RPL36	25873	genome.wustl.edu	37	chr19	5691620	5691620	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaggaaagctgctgcCaagaaagactgagcccctcc	12	5	11	13	0	0	4	0	2	0	2	1	5	1	5	5	1	4	2	5	1	3	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:5691620C>G	ENST00000577222.1	+	6	850	c.306C>G	c.(304-306)gcC>gcG	p.A102A	RPL36_ENST00000347512.3_Silent_p.A102A|RPL36_ENST00000579446.1_3'UTR|RPL36_ENST00000579649.1_Silent_p.A102A|RPL36_ENST00000394580.2_Silent_p.A102A			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	102					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						AAGCTGCTGCCAAGAAAGACT	0.632											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													13	14	14					19																	5691620		2177	4249	6426	SO:0001819	synonymous_variant	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8		ENST00000577222.1:c.306C>G	19.37:g.5691620C>G		628	B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	pfam_Ribosomal_L36e	p.A102	ENST00000577222.1	37	c.306	CCDS12147.1	19																																																																																			RPL36	-	NULL	ENSG00000130255		0.632	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	RPL36	HGNC	protein_coding	OTTHUMT00000442561.1	-	0	91	0	C	NM_015414		5691620	1	tier1	-	no_errors	ENST00000347512	ensembl	human	known	74_37	silent	5.63	66	4	SNP	1.000	G	G	5691620	C	G	5691620	2	3	89	1	0	0	0	0	0	0	0	1	13631	581	21	5		5	RPL36	19	5691620	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2165653	5691620	53437363	306	25672											
MUC16	94025	genome.wustl.edu	37	chr19	9062471	9062471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcatgggaggtgctgctCaaatttgaagtggaactggt	9	12	13	7	0	2	1	2	1	1	0	3	3	2	3	0	4	3	2	0	4	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:9062471C>G	ENST00000397910.4	-	3	25178	c.24975G>C	c.(24973-24975)ttG>ttC	p.L8325F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8327	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGCTGCTCAAATTTGAAG	0.502																																																	0													148	141	143					19																	9062471		2017	4176	6193	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24975G>C	19.37:g.9062471C>G	ENSP00000381008:p.Leu8325Phe		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L8325F	ENST00000397910.4	37	c.24975	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.369	-0.128926	0.06753	.	.	ENSG00000181143	ENST00000397910	T	0.45668	0.89	2.5	-2.78	0.05859	.	.	.	.	.	T	0.32645	0.0836	L	0.46157	1.445	.	.	.	D	0.53462	0.96	P	0.47015	0.534	T	0.26985	-1.0087	8	0.87932	D	0	.	0.3547	0.00355	0.1965:0.3122:0.211:0.2803	.	8325	B5ME49	.	F	8325	ENSP00000381008:L8325F	ENSP00000381008:L8325F	L	-	3	2	MUC16	8923471	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.193000	0.03049	-0.511000	0.06514	-0.528000	0.04320	TTG	MUC16	-	NULL	ENSG00000181143		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	88	0	C	NM_024690		9062471	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	19.30	46	11	SNP	0.000	G	G	9062471	C	G	9062471	3	3	89	1	0	0	0	0	1	0	0	0	10011	825	29	5	18876	5	MUC16	19	9062471	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	3370851	9062471	50066512	307	25673											
MUC16	94025	genome.wustl.edu	37	chr19	9085587	9085587	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtttgaaaccccagaatgGcctgaggacagtgcctcaga	11	7	13	10	0	1	4	1	2	0	2	1	5	1	5	4	3	2	1	4	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:9085587G>T	ENST00000397910.4	-	1	6431	c.6228C>A	c.(6226-6228)ggC>ggA	p.G2076G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2076	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCCAGAATGGCCTGAGGACA	0.468																																																	0													159	153	155					19																	9085587		1920	4128	6048	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6228C>A	19.37:g.9085587G>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.G2076	ENST00000397910.4	37	c.6228	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	78	0	G	NM_024690		9085587	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.006	T	T	9085587	G	T	9085587	2	4	89	1	0	0	0	0	0	0	0	1	10011	1190	42	3		3	MUC16	19	9085587	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	23116	9085587	50043396	308	25674											
ZNF559	84527	genome.wustl.edu	37	chr19	9449954	9449954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactcagagaaacttatacaGagatgtgatgctggagaact	16	9	10	6	0	1	4	1	1	0	3	1	7	1	4	0	1	5	1	0	1	5	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:9449954G>C	ENST00000393883.2	+	4	767	c.119G>C	c.(118-120)aGa>aCa	p.R40T	ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000585352.1_Missense_Mutation_p.R40T|ZNF559_ENST00000587557.1_Missense_Mutation_p.R104T|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Missense_Mutation_p.R68T|ZNF559_ENST00000586255.1_Missense_Mutation_p.R68T|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000317221.7_Missense_Mutation_p.R40T|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.R40T|ZNF559_ENST00000592504.1_Missense_Mutation_p.R40T	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AACTTATACAGAGATGTGATG	0.413																																																	0													195	174	181					19																	9449954		2203	4300	6503	SO:0001583	missense	0			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"Zinc fingers, C2H2-type", "-"	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.119G>C	19.37:g.9449954G>C	ENSP00000377461:p.Arg40Thr		K7EMG6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R40T	ENST00000393883.2	37	c.119	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549646	0.45383	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	T;T	0.02709	4.19;4.19	2.32	1.28	0.21552	Krueppel-associated box (4);	.	.	.	.	T	0.15219	0.0367	M	0.93978	3.48	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.00509	-1.1698	9	0.54805	T	0.06	.	4.3099	0.10965	0.3322:0.0:0.6678:0.0	.	40	Q9BR84	ZN559_HUMAN	T	40	ENSP00000325393:R40T;ENSP00000377461:R40T	ENSP00000325393:R40T	R	+	2	0	ZNF559	9310954	0.852000	0.29690	0.992000	0.48379	0.937000	0.57800	0.336000	0.19823	0.536000	0.28733	0.313000	0.20887	AGA	ZNF559	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188321		0.413	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	-	0	139	0	G	NM_032497		9449954	1	tier1	-	no_errors	ENST00000393883	ensembl	human	known	74_37	missense	11.03	129	16	SNP	0.998	C	C	9449954	G	C	9449954	3	2	89	1	0	0	0	0	1	0	0	0	18038	942	33	5	125	5	ZNF559	19	9449954	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	364367	9449954	49679029	309	25675											
C19orf52	90580	genome.wustl.edu	37	chr19	11040151	11040151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgcgactgcgacatcaacGacgacgaattcctgcacctg	10	7	10	14	6	1	0	1	0	0	0	2	5	2	0	2	0	4	1	2	0	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:11040151G>A	ENST00000270502.6	+	2	646	c.556G>A	c.(556-558)Gac>Aac	p.D186N	YIPF2_ENST00000590329.1_5'Flank|YIPF2_ENST00000253031.2_5'Flank|YIPF2_ENST00000586748.1_5'Flank	NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	186										prostate(1)	1						CGACATCAACGACGACGAATT	0.672																																																	0													29	33	32					19																	11040151		2202	4299	6501	SO:0001583	missense	0			BC011833	CCDS12252.1	19p13.2	2011-11-24			ENSG00000142444	ENSG00000142444			25152	protein-coding gene	gene with protein product						12477932	Standard	NM_138358		Approved		uc002mqd.2	Q9BSF4		ENST00000270502.6:c.556G>A	19.37:g.11040151G>A	ENSP00000270502:p.Asp186Asn		Q96EY6|Q96IT8	Missense_Mutation	SNP	pfam_DUF2366	p.D186N	ENST00000270502.6	37	c.556	CCDS12252.1	19	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418168	0.62622	.	.	ENSG00000142444	ENST00000270502	.	.	.	4.55	3.48	0.39840	.	0.059683	0.64402	D	0.000004	T	0.47783	0.1464	L	0.50333	1.59	0.43103	D	0.994791	P	0.37663	0.604	B	0.28849	0.095	T	0.54970	-0.8213	9	0.54805	T	0.06	-22.8904	13.6831	0.62499	0.0:0.1564:0.8436:0.0	.	186	Q9BSF4	CS052_HUMAN	N	186	.	ENSP00000270502:D186N	D	+	1	0	C19orf52	10901151	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	4.971000	0.63749	1.225000	0.43566	0.655000	0.94253	GAC	C19orf52	-	pfam_DUF2366	ENSG00000142444		0.672	C19orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf52	HGNC	protein_coding	OTTHUMT00000452635.1	-	0	68	0	G	NM_138358		11040151	1	tier1	-	no_errors	ENST00000270502	ensembl	human	known	74_37	missense	6.54	100	7	SNP	1.000	A	A	11040151	G	A	11040151	3	1	89	1	0	0	0	0	1	0	0	0	1941	1058	37	1	562	1	C19orf52	19	11040151	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1590197	11040151	48088832	310	25676											
ZNF44	51710	genome.wustl.edu	37	chr19	12383473	12383473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcctgcattgcttacattCatatggcttctctgccgtgt	5	18	7	11	1	2	0	1	0	1	0	4	0	3	0	2	1	4	3	2	1	2	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:12383473C>T	ENST00000356109.5	-	5	1859	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	ZNF44_ENST00000355684.5_Missense_Mutation_p.E533K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCTTACATTCATATGGCTTC	0.403																																																	0													48	52	50					19																	12383473		2180	4294	6474	SO:0001583	missense	0			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"Zinc fingers, C2H2-type", "-"	13110	protein-coding gene	gene with protein product		194542	"zinc finger protein 58", "zinc finger protein 44 (KOX 7)", "zinc finger protein 55"	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1741G>A	19.37:g.12383473C>T	ENSP00000348419:p.Glu581Lys		B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E581K	ENST00000356109.5	37	c.1741	CCDS54223.1	19	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901034	0.52227	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.19250	2.16;2.16;2.16	0.955	-0.258	0.12975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15176	0.0366	N	0.02674	-0.535	.	.	.	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.24368	-1.0162	8	0.26408	T	0.33	.	4.2656	0.10761	0.2342:0.2987:0.4671:0.0	.	581;533	P15621;F8W7T7	ZNF44_HUMAN;.	K	581;581;533;533	ENSP00000377008:E581K;ENSP00000348419:E581K;ENSP00000347910:E533K	ENSP00000347910:E533K	E	-	1	0	ZNF44	12244473	0.000000	0.05858	0.003000	0.11579	0.970000	0.65996	-2.860000	0.00726	-0.020000	0.14032	0.305000	0.20034	GAA	ZNF44	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197857		0.403	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF44	HGNC	protein_coding	OTTHUMT00000344132.1	-	0	69	0	C	NM_016264		12383473	-1	tier1	-	no_errors	ENST00000393337	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.003	T	T	12383473	C	T	12383473	3	4	89	1	0	0	0	0	1	0	0	0	17960	835	29	3	254	3	ZNF44	19	12383473	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1343322	12383473	46745510	311	25677											
EMR2	30817	genome.wustl.edu	37	chr19	14862359	14862359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatgaatctgttgatgCttgagtagttgaccaccgtc	8	15	9	9	1	3	4	1	4	2	0	4	4	3	4	2	0	1	4	2	0	2	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:14862359C>G	ENST00000315576.3	-	16	2364	c.1913G>C	c.(1912-1914)aGc>aCc	p.S638T	EMR2_ENST00000594076.1_Missense_Mutation_p.S545T|EMR2_ENST00000595839.1_Missense_Mutation_p.S496T|EMR2_ENST00000596991.2_Missense_Mutation_p.S627T|EMR2_ENST00000353876.1_Missense_Mutation_p.S545T|EMR2_ENST00000392967.2_Missense_Mutation_p.S627T|EMR2_ENST00000346057.1_Missense_Mutation_p.S589T|EMR2_ENST00000594294.1_Missense_Mutation_p.S589T|EMR2_ENST00000601345.1_Missense_Mutation_p.S627T|EMR2_ENST00000353005.1_Missense_Mutation_p.S496T|EMR2_ENST00000392965.3_Missense_Mutation_p.S580T|EMR2_ENST00000392964.3_3'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	638					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCTGTTGATGCTTGAGTAGTT	0.547																																																	0													141	125	130					19																	14862359		2203	4300	6503	SO:0001583	missense	0			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"CD molecules", "-", "GPCR / Class B : Orphans"	3337	protein-coding gene	gene with protein product		606100	"egf-like module containing, mucin-like, hormone receptor-like sequence 2"				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1913G>C	19.37:g.14862359C>G	ENSP00000319883:p.Ser638Thr		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.S638T	ENST00000315576.3	37	c.1913	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574203	0.28092	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	4.62	3.33	0.38152	GPCR, family 2-like (1);	.	.	.	.	T	0.39145	0.1067	L	0.31752	0.955	0.09310	N	0.999992	P;B;P;B;P;P;B;P	0.52692	0.771;0.338;0.955;0.235;0.694;0.576;0.389;0.593	P;B;P;B;P;P;P;B	0.57009	0.673;0.373;0.811;0.203;0.452;0.588;0.507;0.281	T	0.15983	-1.0418	9	0.25751	T	0.34	.	10.873	0.46894	0.0:0.6988:0.3012:0.0	.	580;545;638;496;589;638;638;627	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	T	638;627;589;545;496;580	ENSP00000319883:S638T;ENSP00000376694:S627T;ENSP00000263380:S589T;ENSP00000319454:S545T;ENSP00000319838:S496T;ENSP00000376692:S580T	ENSP00000319883:S638T	S	-	2	0	EMR2	14723359	0.022000	0.18835	0.001000	0.08648	0.004000	0.04260	2.217000	0.42880	0.774000	0.33427	0.514000	0.50259	AGC	EMR2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt	ENSG00000127507		0.547	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	-	0	73	0	C			14862359	-1	tier1	-	no_errors	ENST00000315576	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.002	G	G	14862359	C	G	14862359	3	3	89	1	0	0	0	0	1	0	0	0	5121	797	28	5	582	5	EMR2	19	14862359	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2478886	14862359	44266624	312	25678											
BRD4	23476	genome.wustl.edu	37	chr19	15366318	15366318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgagctgccgcttctcctCataggacataggcttgcact	7	11	10	13	1	2	1	1	1	1	0	3	2	2	2	2	2	3	5	2	2	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:15366318C>T	ENST00000263377.2	-	10	2058	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	BRD4_ENST00000371835.4_Missense_Mutation_p.E613K|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.E613K	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	613	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CGCTTCTCCTCATAGGACATA	0.592			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													125	111	116					19																	15366318		2203	4300	6503	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"chromosome-associated protein"	608749	"bromodomain-containing 4"			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1837G>A	19.37:g.15366318C>T	ENSP00000263377:p.Glu613Lys		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E613K	ENST00000263377.2	37	c.1837	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.402266	0.96030	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.17854	2.25;2.25;2.25	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000009	T	0.45597	0.1350	M	0.81239	2.535	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.75020	0.985;0.981;0.978	T	0.50575	-0.8812	10	0.87932	D	0	-29.582	17.25	0.87040	0.0:1.0:0.0:0.0	.	613;613;613	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	K	613	ENSP00000263377:E613K;ENSP00000360901:E613K;ENSP00000353112:E613K	ENSP00000263377:E613K	E	-	1	0	BRD4	15227318	1.000000	0.71417	0.946000	0.38457	0.997000	0.91878	7.818000	0.86416	2.368000	0.80403	0.591000	0.81541	GAG	BRD4	-	NULL	ENSG00000141867		0.592	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	0	52	0	C	NM_058243		15366318	-1	tier1	-	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T	T	15366318	C	T	15366318	3	4	89	1	0	0	0	0	1	0	0	0	1508	835	29	3	2310	3	BRD4	19	15366318	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	503959	15366318	43762665	313	25679											
HSH2D	84941	genome.wustl.edu	37	chr19	16268428	16268428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccccaccaggaaggccgaGaggtcggtcagctgcattga	9	6	14	12	2	1	2	1	1	0	1	3	4	2	3	4	4	2	2	4	4	1	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:16268428G>A	ENST00000253680.6	+	9	1413	c.882G>A	c.(880-882)gaG>gaA	p.E294E	HSH2D_ENST00000397372.4_Silent_p.E204E|HSH2D_ENST00000593154.2_Missense_Mutation_p.E295K|HSH2D_ENST00000588246.1_Missense_Mutation_p.E295K			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	294					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						GGAAGGCCGAGAGGTCGGTCA	0.602																																																	0													44	48	47					19																	16268428		2017	4178	6195	SO:0001819	synonymous_variant	0			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"SH2 domain containing"	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.882G>A	19.37:g.16268428G>A			B5ME72|Q6ZNG7	Missense_Mutation	SNP	pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	p.E295K	ENST00000253680.6	37	c.883		19																																																																																			HSH2D	-	NULL	ENSG00000196684		0.602	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	HSH2D	HGNC	protein_coding		-	0	98	0	G	NM_032855		16268428	1	tier1	-	no_errors	ENST00000588246	ensembl	human	putative	74_37	missense	7.02	53	4	SNP	0.000	A	A	16268428	G	A	16268428	2	1	89	1	0	0	0	0	0	0	0	1	7427	943	33	3		3	HSH2D	19	16268428	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	902110	16268428	42860555	314	25680											
CPAMD8	27151	genome.wustl.edu	37	chr19	17091354	17091354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggtttctccagggcagggGccgcccgcttgcttcgctgc	2	10	14	15	4	1	0	0	0	1	0	4	0	1	0	3	4	2	5	3	4	0	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:17091354G>T	ENST00000443236.1	-	14	1710	c.1679C>A	c.(1678-1680)gCc>gAc	p.A560D	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	513						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGGGCAGGGGCCGCCCGCTT	0.572																																																	0													56	63	60					19																	17091354		1968	4153	6121	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1679C>A	19.37:g.17091354G>T	ENSP00000402505:p.Ala560Asp		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.A560D	ENST00000443236.1	37	c.1679	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.882|8.882	0.951846|0.951846	0.18431|0.18431	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.9|2.9	1.81|1.81	0.25067|0.25067	Alpha-2-macroglobulin, N-terminal 2 (1);|.	0.090665|.	0.45126|.	U|.	0.000389|.	T|T	0.45696|0.45696	0.1355|0.1355	L|L	0.39898|0.39898	1.24|1.24	0.34251|0.34251	D|D	0.678752|0.678752	P|.	0.43542|.	0.81|.	P|.	0.49887|.	0.625|.	T|T	0.53920|0.53920	-0.8370|-0.8370	9|5	0.13853|.	T|.	0.58|.	.|.	6.9391|6.9391	0.24483|0.24483	0.1065:0.1728:0.7207:0.0|0.1065:0.1728:0.7207:0.0	.|.	513|.	Q8IZJ3|.	CPMD8_HUMAN|.	D|T	560|571	.|.	ENSP00000291440:A560D|.	A|P	-|-	2|1	0|0	CPAMD8|CPAMD8	16952354|16952354	0.429000|0.429000	0.25530|0.25530	0.013000|0.013000	0.15412|0.15412	0.024000|0.024000	0.10985|0.10985	3.717000|3.717000	0.54911|0.54911	1.184000|1.184000	0.42957|0.42957	0.467000|0.467000	0.42956|0.42956	GCC|CCC	CPAMD8	-	pfam_A2M_N_2	ENSG00000160111		0.572	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2		0	79	0	G	NM_015692		17091354	-1			no_errors	ENST00000443236	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.016	T	T	17091354	G	T	17091354	3	4	89	1	0	0	0	0	1	0	0	0	3802	1203	42	3	4235	3	CPAMD8	19	17091354	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	822926	17091354	42037629	315	25681											
ATP13A1	57130	genome.wustl.edu	37	chr19	19760549	19760549	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccctagggctgtgcacataCcttctgcttgggagccacac	7	9	10	15	0	1	0	0	0	1	0	1	1	1	1	4	2	4	3	4	2	2	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:19760549C>T	ENST00000357324.6	-	18	2562		c.e18+1		ATP13A1_ENST00000291503.5_Splice_Site	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGTGCACATACCTTCTGCTTG	0.657																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													73	69	70					19																	19760549		2203	4300	6503	SO:0001630	splice_region_variant	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2535+1G>A	19.37:g.19760549C>T			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Splice_Site	SNP	-	e18+1	ENST00000357324.6	37	c.2535+1	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	16.10	3.027407	0.54683	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6938	0.85329	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATP13A1	19621549	1.000000	0.71417	0.996000	0.52242	0.374000	0.29953	7.376000	0.79658	2.557000	0.86248	0.561000	0.74099	.	ATP13A1	-	-	ENSG00000105726		0.657	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	30	0	C	NM_020410	Intron	19760549	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	splice_site	11.43	31	4	SNP	1.000	T	T	19760549	C	T	19760549	5	4	89	1	0	0	0	0	0	0	1	0	1124	521	18	3	1114	3	ATP13A1	19	19760549	Splice_Site	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2669195	19760549	39368434	316	25682											
ATP13A1	57130	genome.wustl.edu	37	chr19	19767686	19767686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtcccctggtacgatctCatcactggcaatgggcctcc	7	10	10	14	1	2	0	2	0	1	0	5	2	4	0	4	3	1	2	4	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:19767686C>T	ENST00000357324.6	-	6	972	c.946G>A	c.(946-948)Gag>Aag	p.E316K	ATP13A1_ENST00000291503.5_Missense_Mutation_p.E198K|ATP13A1_ENST00000496082.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	316						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTACGATCTCATCACTGGCA	0.662																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													43	41	42					19																	19767686		2203	4299	6502	SO:0001583	missense	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.946G>A	19.37:g.19767686C>T	ENSP00000349877:p.Glu316Lys		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.E316K	ENST00000357324.6	37	c.946	CCDS32970.2	19	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883413	0.33255	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	D;D	0.91996	-2.95;-2.95	5.25	4.21	0.49690	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.142260	0.64402	N	0.000007	D	0.89986	0.6874	M	0.76002	2.32	0.58432	D	0.999999	P;P	0.37122	0.583;0.521	B;B	0.35813	0.159;0.211	D	0.86888	0.2046	10	0.24483	T	0.36	-22.6838	11.4182	0.49965	0.0:0.9116:0.0:0.0884	.	316;198	Q9HD20;Q9HD20-2	AT131_HUMAN;.	K	198;316	ENSP00000291503:E198K;ENSP00000349877:E316K	ENSP00000291503:E198K	E	-	1	0	ATP13A1	19628686	1.000000	0.71417	0.026000	0.17262	0.329000	0.28539	5.697000	0.68295	1.205000	0.43262	0.563000	0.77884	GAG	ATP13A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.662	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	144	0	C	NM_020410		19767686	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.998	T	T	19767686	C	T	19767686	3	4	89	1	0	0	0	0	1	0	0	0	1124	835	29	3	2752	3	ATP13A1	19	19767686	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	7137	19767686	39361297	317	25683											
ZNF626	199777	genome.wustl.edu	37	chr19	20807474	20807474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtacttaaaagctttGccacattcttcacatttgta	12	14	7	8	0	2	0	1	0	1	0	2	2	2	1	1	1	3	3	1	1	4	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:20807474G>T	ENST00000601440.1	-	4	1355	c.1209C>A	c.(1207-1209)ggC>ggA	p.G403G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	403					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAAAAGCTTTGCCACATTCTT	0.398																																																	0													58	62	61					19																	20807474		2152	4276	6428	SO:0001819	synonymous_variant	0			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"Zinc fingers, C2H2-type", "-"	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1209C>A	19.37:g.20807474G>T			Q8N8T4|Q96QM1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G403	ENST00000601440.1	37	c.1209	CCDS42535.1	19																																																																																			ZNF626	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188171		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2		0	87	0	G	NM_145297		20807474	-1			no_errors	ENST00000601440	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.970	T	T	20807474	G	T	20807474	2	4	89	1	0	0	0	0	0	0	0	1	18098	1306	46	3		3	ZNF626	19	20807474	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1039788	20807474	38321509	318	25684											
ZNF676	163223	genome.wustl.edu	37	chr19	22363273	22363273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtagggtttctctccagTatgaattctcttatgttcca	7	18	7	9	0	2	1	0	1	2	0	6	1	4	1	2	1	0	4	2	1	4	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:22363273T>C	ENST00000397121.2	-	3	1563	c.1246A>G	c.(1246-1248)Act>Gct	p.T416A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCTCCAGTATGAATTCTC	0.433																																																	0																																										SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1246A>G	19.37:g.22363273T>C	ENSP00000380310:p.Thr416Ala		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T416A	ENST00000397121.2	37	c.1246	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	9.100	1.003959	0.19199	.	.	ENSG00000196109	ENST00000397121	T	0.26518	1.73	0.81	-1.62	0.08372	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17534	0.0421	L	0.37561	1.115	0.27220	N	0.959679	B	0.23650	0.089	B	0.24006	0.05	T	0.32079	-0.9920	9	0.66056	D	0.02	.	5.3966	0.16273	0.0:0.0:0.2782:0.7218	.	416	Q8N7Q3	ZN676_HUMAN	A	416	ENSP00000380310:T416A	ENSP00000380310:T416A	T	-	1	0	ZNF676	22155113	0.088000	0.21588	0.095000	0.20976	0.095000	0.18619	0.149000	0.16243	0.156000	0.19299	0.155000	0.16302	ACT	ZNF676	-	pfscan_Znf_C2H2	ENSG00000196109		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	69	0	T	NM_001001411		22363273	-1	tier1	rs77927748	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	C	C	22363273	T	C	22363273	3	2	89	1	0	0	0	0	1	0	0	0	18131	1638	57	4	524	4	ZNF676	19	22363273	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	1555799	22363273	36765710	319	25685											
ZNF676	163223	genome.wustl.edu	37	chr19	22363286	22363286	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccagtatgaattctcttAtgttccatgagctttgagga	9	16	8	8	0	2	3	0	3	2	0	5	4	3	4	2	1	1	3	2	1	3	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:22363286A>G	ENST00000397121.2	-	3	1550	c.1233T>C	c.(1231-1233)caT>caC	p.H411H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GAATTCTCTTATGTTCCATGA	0.428																																																	0													71	74	73					19																	22363286		2119	4256	6375	SO:0001819	synonymous_variant	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1233T>C	19.37:g.22363286A>G			A8MVX5	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H411	ENST00000397121.2	37	c.1233	CCDS42539.1	19																																																																																			ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	76	0	A	NM_001001411		22363286	-1	tier1	rs78144725	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	11.24	79	10	SNP	0.208	G	G	22363286	A	G	22363286	2	3	89	1	0	0	0	0	0	0	0	1	18131	446	16	4		4	ZNF676	19	22363286	Silent	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	13	22363286	36765697	320	25686											
ZNF792	126375	genome.wustl.edu	37	chr19	35451802	35451802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataagtgcaaagttttccaGcatcacatcgcagtacagga	14	10	8	9	1	1	0	1	0	0	0	3	1	2	1	1	1	3	5	1	1	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:35451802G>A	ENST00000404801.1	-	2	516	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	ZNF792_ENST00000605484.1_5'Flank	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	44	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAGTTTTCCAGCATCACATCG	0.572																																					GBM(1;7 183 21053 22581 22847)												0													148	141	143					19																	35451802		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"Zinc fingers, C2H2-type", "-"	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.130C>T	19.37:g.35451802G>A			B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L44	ENST00000404801.1	37	c.130	CCDS12440.2	19																																																																																			ZNF792	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000180884		0.572	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF792	HGNC	protein_coding	OTTHUMT00000317673.1	-	0	151	0	G	NM_175872		35451802	-1	tier1	-	no_errors	ENST00000404801	ensembl	human	known	74_37	silent	11.11	96	12	SNP	1.000	A	A	35451802	G	A	35451802	2	1	89	1	0	0	0	0	0	0	0	1	18212	962	34	3		3	ZNF792	19	35451802	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	13088516	35451802	23677181	321	25687											
HAUS5	23354	genome.wustl.edu	37	chr19	36106012	36106012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatccaggaactcgaccaGagcctggagctgatggagcg	12	5	14	10	2	0	2	0	1	0	1	2	7	1	5	3	3	4	1	3	3	2	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:36106012G>A	ENST00000203166.5	+	5	313	c.288G>A	c.(286-288)caG>caA	p.Q96Q	HAUS5_ENST00000379045.2_Silent_p.Q96Q|AC002115.9_ENST00000589603.1_lincRNA	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	96					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AACTCGACCAGAGCCTGGAGC	0.607																																																	0													22	28	26					19																	36106012		2042	4187	6229	SO:0001819	synonymous_variant	0			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"HAUS augmin-like complex subunits"	29130	protein-coding gene	gene with protein product		613432	"KIAA0841"	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.288G>A	19.37:g.36106012G>A			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.Q96	ENST00000203166.5	37	c.288	CCDS42550.1	19																																																																																			HAUS5	-	NULL	ENSG00000249115		0.607	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	-	0	54	0	G			36106012	1	tier1	-	no_errors	ENST00000203166	ensembl	human	known	74_37	silent	12.28	50	7	SNP	1.000	A	A	36106012	G	A	36106012	2	1	89	1	0	0	0	0	0	0	0	1	6996	933	33	3		3	HAUS5	19	36106012	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	654210	36106012	23022971	322	25688											
TIMM50	92609	genome.wustl.edu	37	chr19	39979191	39979191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccacagccattgcactgaAtggtgtggaggacgtgcgaa	10	7	14	10	2	0	1	0	1	0	0	0	4	0	3	2	3	3	1	2	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:39979191A>G	ENST00000607714.1	+	10	888	c.866A>G	c.(865-867)aAt>aGt	p.N289S	TIMM50_ENST00000599794.1_Missense_Mutation_p.N93S|TIMM50_ENST00000314349.4_Missense_Mutation_p.N392S|TIMM50_ENST00000544017.1_Missense_Mutation_p.N176S			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	289					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATTGCACTGAATGGTGTGGAG	0.632																																																	0													135	136	136					19																	39979191		2203	4300	6503	SO:0001583	missense	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	23656	protein-coding gene	gene with protein product		607381	"translocase of inner mitochondrial membrane 50 homolog (yeast)"			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.866A>G	19.37:g.39979191A>G	ENSP00000475531:p.Asn289Ser		Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.N392S	ENST00000607714.1	37	c.1175		19	.	.	.	.	.	.	.	.	.	.	A	0.771	-0.765674	0.02996	.	.	ENSG00000105197	ENST00000314349;ENST00000544017	.	.	.	4.89	4.89	0.63831	NLI interacting factor (1);HAD-like domain (2);	0.095949	0.64402	D	0.000001	T	0.11793	0.0287	N	0.00280	-1.71	0.47123	D	0.99932	B;B	0.20052	0.012;0.041	B;B	0.15484	0.006;0.013	T	0.17228	-1.0376	8	.	.	.	-27.9508	5.9951	0.19489	0.8187:0.0:0.1813:0.0	.	289;392	Q3ZCQ8;Q3ZCQ8-2	TIM50_HUMAN;.	S	392;176	.	.	N	+	2	0	TIMM50	44671031	1.000000	0.71417	0.759000	0.31340	0.436000	0.31835	5.828000	0.69307	2.052000	0.61016	0.459000	0.35465	AAT	TIMM50	-	pfam_NIF,superfamily_HAD-like_dom	ENSG00000105197		0.632	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1	-	0	57	0	A	NM_001001563		39979191	1	tier1	-	no_errors	ENST00000314349	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.983	G	G	39979191	A	G	39979191	3	3	89	1	0	0	0	0	1	0	0	0	15960	101	4	4	1213	4	TIMM50	19	39979191	Missense_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09	3873179	39979191	19149792	323	25689											
ARHGEF1	9138	genome.wustl.edu	37	chr19	42408469	42408469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggacactgacgcccacgcccGatggcaagaccatgctgcgg	9	4	13	15	4	0	2	0	1	0	1	0	4	0	3	3	3	2	2	3	3	1	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:42408469G>C	ENST00000354532.3	+	22	2243	c.2095G>C	c.(2095-2097)Gat>Cat	p.D699H	ARHGEF1_ENST00000337665.4_Missense_Mutation_p.D714H|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.D755H|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.D666H|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.D681H	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	699	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCACGCCCGATGGCAAGAC	0.692																																																	0													22	21	21					19																	42408469		2200	4294	6494	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2095G>C	19.37:g.42408469G>C	ENSP00000346532:p.Asp699His		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D714H	ENST00000354532.3	37	c.2140	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916939	0.73098	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	3.97	3.97	0.46021	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.066488	0.64402	D	0.000020	T	0.76212	0.3956	M	0.79614	2.46	0.58432	D	0.999998	D;D;D;D	0.71674	0.972;0.998;0.997;0.978	P;P;P;P	0.62089	0.641;0.898;0.884;0.705	T	0.80817	-0.1213	10	0.87932	D	0	-18.3934	13.9582	0.64162	0.0:0.0:1.0:0.0	.	681;714;666;699	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	H	699;666;714;681	ENSP00000346532:D699H;ENSP00000344429:D666H;ENSP00000337261:D714H;ENSP00000367394:D681H	ENSP00000337261:D714H	D	+	1	0	ARHGEF1	47100309	1.000000	0.71417	0.649000	0.29536	0.613000	0.37349	7.580000	0.82523	1.935000	0.56089	0.558000	0.71614	GAT	ARHGEF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000076928		0.692	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	-	0	18	0	G	NM_199002		42408469	1	tier1	-	no_errors	ENST00000337665	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	C	C	42408469	G	C	42408469	3	2	89	1	0	0	0	0	1	0	0	0	893	1058	37	5	2226	5	ARHGEF1	19	42408469	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2429278	42408469	16720514	324	25690											
MEGF8	1954	genome.wustl.edu	37	chr19	42840240	42840240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacctgcctccagctcctCggggcccccaggcctggcag	5	5	11	20	1	0	0	0	0	0	0	3	0	2	0	8	4	2	2	8	4	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:42840240C>T	ENST00000251268.6	+	6	986	c.986C>T	c.(985-987)tCg>tTg	p.S329L	MEGF8_ENST00000334370.4_Missense_Mutation_p.S329L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	329					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCAGCTCCTCGGGGCCCCCA	0.682																																																	0													25	28	27					19																	42840240		1983	4138	6121	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.986C>T	19.37:g.42840240C>T	ENSP00000251268:p.Ser329Leu		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.S329L	ENST00000251268.6	37	c.986		19	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.483562	0.01027	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	4.43	-0.193	0.13244	.	.	.	.	.	T	0.04588	0.0125	N	0.00729	-1.24	0.20873	N	0.999834	B	0.02656	0.0	B	0.01281	0.0	T	0.41893	-0.9483	9	0.11485	T	0.65	.	4.0945	0.09985	0.0:0.5301:0.1727:0.2972	.	329	Q7Z7M0-2	.	L	329	ENSP00000334219:S329L;ENSP00000251268:S329L	ENSP00000251268:S329L	S	+	2	0	MEGF8	47532080	0.000000	0.05858	0.064000	0.19789	0.565000	0.35776	0.079000	0.14782	-0.077000	0.12752	-1.468000	0.01013	TCG	MEGF8	-	NULL	ENSG00000105429		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0	57	0	C	NM_001410		42840240	1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	missense	10.00	54	6	SNP	0.045	T	T	42840240	C	T	42840240	3	4	89	1	0	0	0	0	1	0	0	0	9501	893	31	1	1008	1	MEGF8	19	42840240	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	431771	42840240	16288743	325	25691											
ZNF283	284349	genome.wustl.edu	37	chr19	44351849	44351849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatcagcttactcagcatCagaaaatccatactggtaag	14	10	7	10	0	3	1	3	0	0	1	4	1	4	1	1	1	4	4	1	1	6	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:44351849C>A	ENST00000324461.7	+	7	1393	c.1096C>A	c.(1096-1098)Cag>Aag	p.Q366K	ZNF283_ENST00000588797.1_Missense_Mutation_p.Q227K	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TACTCAGCATCAGAAAATCCA	0.378																																																	0													80	95	90					19																	44351849		2169	4284	6453	SO:0001583	missense	0			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"Zinc fingers, C2H2-type", "-"	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1096C>A	19.37:g.44351849C>A	ENSP00000327314:p.Gln366Lys		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q366K	ENST00000324461.7	37	c.1096	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	C	8.447	0.852095	0.17034	.	.	ENSG00000167637	ENST00000324461	T	0.07216	3.21	2.99	0.686	0.18015	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.11673	0.155	0.48511	D	0.999667	B	0.20164	0.042	B	0.15870	0.014	T	0.41161	-0.9524	9	0.45353	T	0.12	.	5.6393	0.17554	0.0:0.4915:0.3871:0.1214	.	366	Q8N7M2	ZN283_HUMAN	K	366	ENSP00000327314:Q366K	ENSP00000327314:Q366K	Q	+	1	0	ZNF283	49043689	0.066000	0.20996	0.861000	0.33841	0.701000	0.40568	1.010000	0.29898	0.103000	0.17682	-0.502000	0.04539	CAG	ZNF283	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167637		0.378	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1		0	113	0	C	NM_181845		44351849	1			no_errors	ENST00000324461	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.715	A	A	44351849	C	A	44351849	3	1	89	1	0	0	0	0	1	0	0	0	17868	827	29	3	1110	3	ZNF283	19	44351849	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	1511609	44351849	14777134	326	25692											
CD3EAP	10849	genome.wustl.edu	37	chr19	45912504	45912504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaagaagaagaagaaGaagaaagagagaggtcacac	21	2	11	7	0	1	8	1	0	0	8	2	9	2	8	2	1	0	0	2	1	7	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:45912504G>T	ENST00000309424.3	+	3	1766	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.K428N	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	426	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		agaagaagaagaagaaagaga	0.577																																																	0													41	49	46					19																	45912504		2199	4295	6494	SO:0001583	missense	0			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"CD3 epsilon associated protein", "antisense to ERCC 1"	107325	"CD3e antigen, epsilon polypeptide associated protein"			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1278G>T	19.37:g.45912504G>T	ENSP00000310966:p.Lys426Asn		Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol1_su_RPA34	p.K428N	ENST00000309424.3	37	c.1284	CCDS12661.1	19	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071390	0.36566	.	.	ENSG00000117877	ENST00000309424	T	0.19394	2.15	3.96	0.327	0.15913	.	0.376510	0.19203	N	0.120129	T	0.15435	0.0372	L	0.32530	0.975	0.58432	D	0.999999	P;P	0.50819	0.939;0.9	P;B	0.45538	0.484;0.291	T	0.06499	-1.0823	10	0.72032	D	0.01	-12.286	5.2642	0.15589	0.2076:0.1709:0.6216:0.0	.	428;426	O15446-2;O15446	.;RPA34_HUMAN	N	426	ENSP00000310966:K426N	ENSP00000310966:K426N	K	+	3	2	CD3EAP	50604344	0.988000	0.35896	0.785000	0.31869	0.808000	0.45660	0.550000	0.23345	0.683000	0.31428	-0.221000	0.12465	AAG	CD3EAP	-	NULL	ENSG00000117877		0.577	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1		0	62	0	G	NM_012099		45912504	1			no_errors	ENST00000589804	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.931	T	T	45912504	G	T	45912504	3	4	89	1	0	0	0	0	1	0	0	0	3019	933	33	3	1288	3	CD3EAP	19	45912504	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1560655	45912504	13216479	327	25693											
TULP2	7288	genome.wustl.edu	37	chr19	49385305	49385305	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtttgggatccacGatttggaagttcttcaccga	8	13	11	9	3	3	0	2	0	1	0	4	4	4	2	2	3	0	2	2	3	1	4			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:49385305G>T	ENST00000221399.3	-	12	1575	c.1431C>A	c.(1429-1431)atC>atA	p.I477I		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	477					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TGGGATCCACGATTTGGAAGT	0.547																																																	0													134	108	117					19																	49385305		2203	4300	6503	SO:0001819	synonymous_variant	0			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"cancer/testis antigen 65"	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1431C>A	19.37:g.49385305G>T			Q8TC50	Silent	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.I477	ENST00000221399.3	37	c.1431	CCDS12739.1	19																																																																																			TULP2	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	ENSG00000104804		0.547	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	-	0	158	0	G	NM_003323		49385305	-1	tier1	-	no_errors	ENST00000221399	ensembl	human	known	74_37	silent	21.74	72	20	SNP	0.064	T	T	49385305	G	T	49385305	2	4	89	1	0	0	0	0	0	0	0	1	16823	1048	37	2		2	TULP2	19	49385305	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3472801	49385305	9743678	328	25694											
RUVBL2	10856	genome.wustl.edu	37	chr19	49513245	49513245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtagggacgtgatcaccatCgacaaggcgacgggcaagat	12	6	14	9	4	1	2	1	1	0	1	2	5	1	3	1	3	0	2	1	3	3	1	rs200114612		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:49513245C>T	ENST00000595090.1	+	8	1049	c.585C>T	c.(583-585)atC>atT	p.I195I	RUVBL2_ENST00000413176.2_Silent_p.I150I|RUVBL2_ENST00000601968.1_Silent_p.I150I	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	195					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TGATCACCATCGACAAGGCGA	0.667													C|||	1	0.000199681	0	0	5008	,	,		19268	0		0	False		,,,				2504	0.001																0								C		1,4155		0,1,2077	65	69	68		585	-1.2	1	19		68	5,8367		0,5,4181	no	coding-synonymous	RUVBL2	NM_006666.1		0,6,6258	TT,TC,CC		0.0597,0.0241,0.0479		195/464	49513245	6,12522	2078	4186	6264	SO:0001819	synonymous_variant	0			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.585C>T	19.37:g.49513245C>T			B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Nonsense_Mutation	SNP	pfam_TIP49_C,pfam_DNA_helicase_DnaB-like_C,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase	p.R192*	ENST00000595090.1	37	c.574	CCDS42588.1	19																																																																																			RUVBL2	-	superfamily_NA-bd_OB-fold	ENSG00000183207		0.667	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1	-	0	73	0	C			49513245	1	tier1	rs200114612	no_errors	ENST00000221413	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	0.989	T	T	49513245	C	T	49513245	2	4	89	1	0	0	0	0	0	0	0	1	13798	874	31	1		1	RUVBL2	19	49513245	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	127940	49513245	9615738	329	25695											
RUVBL2	10856	genome.wustl.edu	37	chr19	49513866	49513866	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcttcctggcgctcttctCaggtgaggcccctcctgccc	2	10	12	17	1	2	1	1	1	2	0	5	1	4	1	5	4	1	2	5	4	0	2	rs375101517		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:49513866C>G	ENST00000595090.1	+	9	1249	c.785C>G	c.(784-786)tCa>tGa	p.S262*	RUVBL2_ENST00000413176.2_Nonsense_Mutation_p.S217*|RUVBL2_ENST00000601968.1_Nonsense_Mutation_p.S217*	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	262					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GCGCTCTTCTCAGGTGAGGCC	0.667																																																	0													55	62	60					19																	49513866		2106	4220	6326	SO:0001587	stop_gained	0			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"INO80 complex subunits", "ATPases / AAA-type"	10475	protein-coding gene	gene with protein product	"reptin", "INO80 complex subunit J"	604788	"RuvB (E coli homolog)-like 2", "RuvB-like 2 (E. coli)"			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.785C>G	19.37:g.49513866C>G	ENSP00000473172:p.Ser262*		B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Nonsense_Mutation	SNP	pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA	p.S262*	ENST00000595090.1	37	c.785	CCDS42588.1	19	.	.	.	.	.	.	.	.	.	.	C	48	13.899041	0.99769	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.0449	14.8187	0.70055	0.0:1.0:0.0:0.0	.	.	.	.	X	262;217	.	ENSP00000221413:S262X	S	+	2	0	RUVBL2	54205678	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.224000	0.65288	2.446000	0.82766	0.650000	0.86243	TCA	RUVBL2	-	pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000183207		0.667	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	HGNC	protein_coding	OTTHUMT00000466235.1	-	0	40	0	C			49513866	1	tier1	-	no_errors	ENST00000595090	ensembl	human	known	74_37	nonsense	21.05	14	4	SNP	1.000	G	G	49513866	C	G	49513866	4	3	89	1	0	0	0	0	0	1	0	0	13798	838	29	5	819	5	RUVBL2	19	49513866	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	621	49513866	9615117	330	25696											
HRC	3270	genome.wustl.edu	37	chr19	49657886	49657886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactcagtggaggcctcCtcttcctcctcctcctcctc	4	12	5	20	0	2	0	1	0	1	0	9	1	8	1	8	2	1	0	8	2	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:49657886C>T	ENST00000252825.4	-	1	795	c.609G>A	c.(607-609)gaG>gaA	p.E203E	HRC_ENST00000595625.1_Silent_p.E203E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	203	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGGAGGcctcctcttcctcct	0.572																																					Melanoma(37;75 1097 24567 25669 30645)												0													123	91	102					19																	49657886		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.609G>A	19.37:g.49657886C>T			Q504Y6	Silent	SNP	pfam_Hist_rich_Ca-bd	p.E203	ENST00000252825.4	37	c.609	CCDS12759.1	19																																																																																			HRC	-	NULL	ENSG00000130528		0.572	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1		0	24	0	C	NM_002152		49657886	-1			no_errors	ENST00000252825	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.000	T	T	49657886	C	T	49657886	2	4	89	1	0	0	0	0	0	0	0	1	7379	680	24	3		3	HRC	19	49657886	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	144020	49657886	9471097	331	25697											
TSKS	60385	genome.wustl.edu	37	chr19	50251727	50251727	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatccactgttgaccccactCtggggaagaatgggagacag	12	7	12	10	0	1	3	0	1	1	2	2	5	2	4	3	3	0	1	3	3	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:50251727C>G	ENST00000246801.3	-	3	482		c.e3-1		TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate						negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGACCCCACTCTGGGGAAGAA	0.542																																																	0													80	68	72					19																	50251727		2203	4300	6503	SO:0001630	splice_region_variant	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.400-1G>C	19.37:g.50251727C>G			Q8WXJ0	Splice_Site	SNP	-	e3-1	ENST00000246801.3	37	c.400-1	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592842	0.66219	.	.	ENSG00000126467	ENST00000246801	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9962	0.71433	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TSKS	54943539	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.860000	0.55995	2.525000	0.85131	0.462000	0.41574	.	TSKS	-	-	ENSG00000126467		0.542	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	-	0	73	0	C	NM_021733	Intron	50251727	-1	tier1	-	no_errors	ENST00000246801	ensembl	human	known	74_37	splice_site	18.52	66	15	SNP	1.000	G	G	50251727	C	G	50251727	5	3	89	1	0	0	0	0	0	0	1	0	16674	927	32	5	1415	5	TSKS	19	50251727	Splice_Site	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	593841	50251727	8877256	332	25698											
LILRA2	11027	genome.wustl.edu	37	chr19	55087566	55087566	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgaccccctggagctCgtggtctcaggtgagggccc	5	7	14	15	1	1	2	1	2	1	0	3	3	1	3	4	4	1	1	4	4	0	0	rs199807216		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:55087566C>A	ENST00000251377.3	+	7	1378	c.1245C>A	c.(1243-1245)ctC>ctA	p.L415L	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.L415L|LILRA2_ENST00000391738.3_Silent_p.L415L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Silent_p.L403L|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	415					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCTGGAGCTCGTGGTCTCAG	0.612																																																	0													82	76	78					19																	55087566		2203	4300	6503	SO:0001819	synonymous_variant	0			U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1245C>A	19.37:g.55087566C>A			O75020	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.L415	ENST00000251377.3	37	c.1245	CCDS46179.1	19																																																																																			LILRA2	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239998		0.612	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRA2	HGNC	protein_coding	OTTHUMT00000140813.2	-	0	125	0	C			55087566	1	tier1	-	no_errors	ENST00000251377	ensembl	human	known	74_37	silent	10.23	79	9	SNP	0.002	A	A	55087566	C	A	55087566	2	1	89	1	0	0	0	0	0	0	0	1	8814	871	31	2		2	LILRA2	19	55087566	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	4835839	55087566	4041417	333	25699											
NLRP7	199713	genome.wustl.edu	37	chr19	55451629	55451629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatacactttttggccagCgtggttttccccacgcctgc	6	12	9	14	2	0	0	0	0	0	0	1	0	1	0	4	2	4	2	4	2	1	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:55451629C>T	ENST00000590030.1	-	3	598	c.558G>A	c.(556-558)acG>acA	p.T186T	NLRP7_ENST00000448121.2_Silent_p.T186T|NLRP7_ENST00000588756.1_Silent_p.T186T|NLRP7_ENST00000592784.1_Silent_p.T186T|NLRP7_ENST00000340844.2_Silent_p.T186T|NLRP7_ENST00000446217.1_Silent_p.T214T|NLRP7_ENST00000328092.5_Silent_p.T186T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	186	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTTTGGCCAGCGTGGTTTTCC	0.577																																																	0													121	121	121					19																	55451629		2203	4300	6503	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"Nucleotide-binding domain and leucine rich repeat containing"	22947	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"	609661	"NACHT, leucine rich repeat and PYD containing 7"	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.558G>A	19.37:g.55451629C>T			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T214	ENST00000590030.1	37	c.642	CCDS33109.1	19																																																																																			NLRP7	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000167634		0.577	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1		0	77	0	C	NM_139176		55451629	-1			no_errors	ENST00000446217	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.010	T	T	55451629	C	T	55451629	2	4	89	1	0	0	0	0	0	0	0	1	10521	755	27	1		1	NLRP7	19	55451629	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	364063	55451629	3677354	334	25700											
ZIM3	114026	genome.wustl.edu	37	chr19	57647388	57647388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcgtttccttattgattGatgggacttctcttgcgaga	7	16	10	8	2	2	3	1	2	1	1	4	5	3	4	1	1	2	1	1	1	1	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr19:57647388G>A	ENST00000269834.1	-	5	702	c.317C>T	c.(316-318)tCa>tTa	p.S106L	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTATTGATTGATGGGACTTC	0.408																																																	0													184	181	182					19																	57647388		2203	4300	6503	SO:0001583	missense	0			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"Zinc fingers, C2H2-type", "-"	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.317C>T	19.37:g.57647388G>A	ENSP00000269834:p.Ser106Leu		Q14CA6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S106L	ENST00000269834.1	37	c.317	CCDS33125.1	19	.	.	.	.	.	.	.	.	.	.	G	8.192	0.796139	0.16327	.	.	ENSG00000141946	ENST00000269834	T	0.04603	3.59	2.18	2.18	0.27775	.	.	.	.	.	T	0.03390	0.0098	L	0.27053	0.805	0.09310	N	1	P	0.39216	0.664	B	0.33295	0.161	T	0.44174	-0.9345	9	0.21014	T	0.42	.	10.0512	0.42216	0.0:0.0:1.0:0.0	.	106	Q96PE6	ZIM3_HUMAN	L	106	ENSP00000269834:S106L	ENSP00000269834:S106L	S	-	2	0	ZIM3	62339200	0.000000	0.05858	0.003000	0.11579	0.198000	0.23893	-0.233000	0.09041	1.523000	0.49018	0.313000	0.20887	TCA	ZIM3	-	NULL	ENSG00000141946		0.408	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM3	HGNC	protein_coding	OTTHUMT00000465078.1	-	0	90	0	G			57647388	-1	tier1	-	no_errors	ENST00000269834	ensembl	human	known	74_37	missense	9.86	127	14	SNP	0.002	A	A	57647388	G	A	57647388	3	1	89	1	0	0	0	0	1	0	0	0	17733	1294	45	3	1105	3	ZIM3	19	57647388	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2195759	57647388	1481595	335	25701											
RIN2	54453	genome.wustl.edu	37	chr20	19981579	19981579	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagacctcaccacctcctAgaagacaggcgggacttccc	12	5	9	15	1	1	4	1	0	0	4	3	5	3	5	5	2	0	0	5	2	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:19981579A>G	ENST00000255006.6	+	12	2983	c.2834A>G	c.(2833-2835)tAg>tGg	p.*945W	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Nonstop_Mutation_p.*463W	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ACCACCTCCTAGAAGACAGGC	0.532																																																	0													42	43	43					20																	19981579		1964	4158	6122	SO:0001578	stop_lost	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2834A>G	20.37:g.19981579A>G	ENSP00000255006:p.*945Trpext*25		Q00425|Q5TFT8|Q9BQL3|Q9H071	Nonstop_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.*945W	ENST00000255006.6	37	c.2834	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	A	8.657	0.899682	0.17686	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6249	0.68614	1.0:0.0:0.0:0.0	.	.	.	.	W	945;463	.	.	X	+	2	0	RIN2	19929579	1.000000	0.71417	0.179000	0.23059	0.129000	0.20672	4.110000	0.57831	2.272000	0.75746	0.460000	0.39030	TAG	RIN2	-	NULL	ENSG00000132669		0.532	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1		0	53	0	A			19981579	1			no_errors	ENST00000255006	ensembl	human	known	74_37	nonstop	5.41	35	2	SNP	0.796	G	G	19981579	A	G	19981579	4	3	89	1	0	0	0	0	0	0	0	0	13417	433	15	4	2729	4	RIN2	20	19981579	Nonstop_Mutation	SNP	A	TCGA-L5-A8NQ-01A-11D-A36J-09		19981579	43043941	336	25702											
PYGB	5834	genome.wustl.edu	37	chr20	25239910	25239910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggaattctacatgggtcGcacgctgcagaacacgatgg	10	8	12	11	3	1	1	0	0	1	1	2	3	1	2	1	3	3	3	1	3	3	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:25239910G>A	ENST00000216962.4	+	2	391	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	94					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TACATGGGTCGCACGCTGCAG	0.493																																																	0													111	112	111					20																	25239910		2203	4300	6503	SO:0001583	missense	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.281G>A	20.37:g.25239910G>A	ENSP00000216962:p.Arg94His		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.R94H	ENST00000216962.4	37	c.281	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	G	31	5.101962	0.94245	.	.	ENSG00000100994	ENST00000216962	D	0.93076	-3.16	4.38	4.38	0.52667	.	0.110634	0.64402	D	0.000012	D	0.97845	0.9292	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99113	1.0847	10	0.87932	D	0	-19.5793	16.214	0.82191	0.0:0.0:1.0:0.0	.	94	P11216	PYGB_HUMAN	H	94	ENSP00000216962:R94H	ENSP00000216962:R94H	R	+	2	0	PYGB	25187910	1.000000	0.71417	0.981000	0.43875	0.983000	0.72400	9.044000	0.93805	2.431000	0.82371	0.655000	0.94253	CGC	PYGB	-	pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.493	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2		0	22	0	G	NM_002862		25239910	1			no_errors	ENST00000216962	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	25239910	G	A	25239910	3	1	89	1	0	0	0	0	1	0	0	0	12905	1087	38	1	287	1	PYGB	20	25239910	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5258331	25239910	37785610	337	25703											
ASXL1	171023	genome.wustl.edu	37	chr20	31024392	31024392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacaggtcgggccctgggtGatcagagcaatgttacaggc	10	7	15	9	1	1	3	1	1	0	2	2	3	1	3	1	4	2	2	1	4	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:31024392G>A	ENST00000375687.4	+	13	4301	c.3877G>A	c.(3877-3879)Gat>Aat	p.D1293N	ASXL1_ENST00000306058.5_Missense_Mutation_p.D1288N	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1293					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGCCCTGGGTGATCAGAGCAA	0.557			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													72	70	70					20																	31024392		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3877G>A	20.37:g.31024392G>A	ENSP00000364839:p.Asp1293Asn		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.D1293N	ENST00000375687.4	37	c.3877	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	2.461	-0.324055	0.05350	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.15017	2.47;2.46	4.09	0.996	0.19844	.	0.677027	0.15922	N	0.238098	T	0.10594	0.0259	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.26950	-1.0088	10	0.30078	T	0.28	-0.4801	3.402	0.07327	0.427:0.0:0.3925:0.1804	.	1288;1293	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	N	1293;1293;1293;1214;1288	ENSP00000364839:D1293N;ENSP00000305119:D1288N	ENSP00000305119:D1288N	D	+	1	0	ASXL1	30488053	0.023000	0.18921	0.046000	0.18839	0.619000	0.37552	0.249000	0.18216	0.267000	0.21916	-0.215000	0.12644	GAT	ASXL1	-	NULL	ENSG00000171456		0.557	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	80	0	G	NM_015338		31024392	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	12.90	81	12	SNP	0.007	A	A	31024392	G	A	31024392	3	1	89	1	0	0	0	0	1	0	0	0	1067	1290	45	3	3933	3	ASXL1	20	31024392	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5784482	31024392	32001128	338	25704											
CPNE1	8904	genome.wustl.edu	37	chr20	34219461	34219461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtggaaggtaccgatgaGatcatgtgacccgtcactgt	9	10	14	8	2	2	2	2	2	0	1	2	5	2	3	2	3	1	1	2	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:34219461G>C	ENST00000317619.3	-	10	1061	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V	CPNE1_ENST00000397446.1_Missense_Mutation_p.L223V|CPNE1_ENST00000352393.4_Missense_Mutation_p.L223V|CPNE1_ENST00000317677.5_Missense_Mutation_p.L228V|CPNE1_ENST00000397445.1_Missense_Mutation_p.L223V|CPNE1_ENST00000397442.1_Missense_Mutation_p.L223V|CPNE1_ENST00000397443.1_Missense_Mutation_p.L223V			Q99829	CPNE1_HUMAN	copine I	223	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTACCGATGAGATCATGTGAC	0.547																																																	0													71	51	58					20																	34219461		2203	4300	6503	SO:0001583	missense	0			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.667C>G	20.37:g.34219461G>C	ENSP00000326126:p.Leu223Val		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.L228V	ENST00000317619.3	37	c.682	CCDS13260.1	20	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480724	0.63849	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056;ENST00000414664;ENST00000416778;ENST00000439806	T;T;T;T;T;T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.088704	0.46758	U	0.000273	T	0.59555	0.2202	M	0.84433	2.695	0.43499	D	0.995744	P;P;P;D;D	0.60160	0.857;0.678;0.685;0.972;0.987	P;P;P;P;P	0.58970	0.597;0.458;0.479;0.706;0.849	T	0.64846	-0.6311	10	0.66056	D	0.02	-10.884	6.9575	0.24580	0.1998:0.0:0.8002:0.0	.	228;223;223;223;203	B0QZ18;E7ENH5;A6PVH9;Q99829;Q59EI4	.;.;.;CPNE1_HUMAN;.	V	223;228;223;223;223;223;223;223;199;199;223;199;223	ENSP00000336945:L223V;ENSP00000317257:L228V;ENSP00000326126:L223V;ENSP00000380588:L223V;ENSP00000380587:L223V;ENSP00000380585:L223V;ENSP00000380584:L223V;ENSP00000415597:L223V;ENSP00000390626:L199V;ENSP00000416962:L199V;ENSP00000404355:L223V;ENSP00000389662:L199V;ENSP00000387434:L223V	ENSP00000326126:L223V	L	-	1	0	CPNE1	33682875	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.710000	0.47169	2.813000	0.96785	0.655000	0.94253	CTC	CPNE1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000214078		0.547	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	-	0	69	0	G	NM_152930		34219461	-1	tier1	-	no_errors	ENST00000317677	ensembl	human	known	74_37	missense	7.46	61	5	SNP	1.000	C	C	34219461	G	C	34219461	3	2	89	1	0	0	0	0	1	0	0	0	3818	942	33	5	982	5	CPNE1	20	34219461	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3195069	34219461	28806059	339	25705											
KIAA1755	85449	genome.wustl.edu	37	chr20	36855583	36855583	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaggtaatgtctgcagctgGagagccgcctccttctcccc	6	10	10	15	1	3	1	1	0	2	1	5	2	4	1	5	2	3	3	5	2	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:36855583G>A	ENST00000279024.4	-	7	2296	c.2025C>T	c.(2023-2025)ctC>ctT	p.L675L		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	675										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCTGCAGCTGGAGAGCCGCCT	0.602																																																	0													46	44	45					20																	36855583		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2025C>T	20.37:g.36855583G>A			Q9C0A8	Silent	SNP	superfamily_CRAL-TRIO_dom	p.L675	ENST00000279024.4	37	c.2025	CCDS33467.1	20																																																																																			KIAA1755	-	superfamily_CRAL-TRIO_dom	ENSG00000149633		0.602	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0	83	0	G	NM_001029864		36855583	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	silent	19.19	80	19	SNP	0.002	A	A	36855583	G	A	36855583	2	1	89	1	0	0	0	0	0	0	0	1	8284	1161	41	3		3	KIAA1755	20	36855583	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2636122	36855583	26169937	340	25706											
PPP1R16B	26051	genome.wustl.edu	37	chr20	37536771	37536771	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcggagtgcagctgaggatCagcggacctccacctacaac	11	5	12	13	2	1	1	1	1	0	0	2	4	2	4	3	3	6	2	3	3	2	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:37536771C>T	ENST00000299824.1	+	10	1318	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.Q335*	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	377					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AGCTGAGGATCAGCGGACCTC	0.607																																																	0													115	98	104					20																	37536771		2203	4300	6503	SO:0001587	stop_gained	0			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1129C>T	20.37:g.37536771C>T	ENSP00000299824:p.Gln377*		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q377*	ENST00000299824.1	37	c.1129	CCDS13309.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.580890	0.97680	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	.	.	.	5.79	5.79	0.91817	.	0.198944	0.40302	N	0.001124	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	16.5672	0.84601	0.0:0.8612:0.1387:0.0	.	.	.	.	X	377;335	.	ENSP00000299824:Q377X	Q	+	1	0	PPP1R16B	36970185	0.988000	0.35896	0.981000	0.43875	0.857000	0.48899	2.766000	0.47629	2.771000	0.95319	0.644000	0.83932	CAG	PPP1R16B	-	pirsf_Pase-1_reg_su_16AB_euk	ENSG00000101445		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	-	0	121	0	C	NM_015568		37536771	1	tier1	-	no_errors	ENST00000299824	ensembl	human	known	74_37	nonsense	15.00	68	12	SNP	0.991	T	T	37536771	C	T	37536771	4	4	89	1	0	0	0	0	0	1	0	0	12408	827	29	3	1163	3	PPP1R16B	20	37536771	Nonsense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	681188	37536771	25488749	341	25707											
PKIG	11142	genome.wustl.edu	37	chr20	43243230	43243230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcctcctactcggacttCatctcctgtgaccggacagg	7	10	10	14	2	2	1	1	1	1	0	6	4	4	3	4	3	1	0	4	3	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:43243230C>T	ENST00000372889.1	+	5	618	c.33C>T	c.(31-33)ttC>ttT	p.F11F	PKIG_ENST00000372882.3_Silent_p.F11F|PKIG_ENST00000372891.3_Silent_p.F11F|PKIG_ENST00000372892.3_Silent_p.F11F|PKIG_ENST00000349959.3_Silent_p.F11F|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372887.1_Silent_p.F11F|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372894.3_Silent_p.F11F|PKIG_ENST00000372886.1_Silent_p.F11F	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	11					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			ACTCGGACTTCATCTCCTGTG	0.612																																																	0													112	93	100					20																	43243230		2203	4300	6503	SO:0001819	synonymous_variant	0			AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.33C>T	20.37:g.43243230C>T				Silent	SNP	pfam_cAMP_dep_PKI	p.F11	ENST00000372889.1	37	c.33	CCDS13334.1	20																																																																																			PKIG	-	pfam_cAMP_dep_PKI	ENSG00000168734		0.612	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PKIG	HGNC	protein_coding	OTTHUMT00000127804.1	-	0	58	0	C			43243230	1	tier1	-	no_errors	ENST00000349959	ensembl	human	known	74_37	silent	10.29	61	7	SNP	1.000	T	T	43243230	C	T	43243230	2	4	89	1	0	0	0	0	0	0	0	1	12014	825	29	3		3	PKIG	20	43243230	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	5706459	43243230	19782290	342	25708											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47587679	47587679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccatgagctgcgttccaagGtggtttccctgcagctgctc	5	11	11	14	1	0	1	0	1	0	0	3	1	2	1	3	2	5	6	3	2	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:47587679G>A	ENST00000371917.4	+	10	1213	c.1213G>A	c.(1213-1215)Gtg>Atg	p.V405M		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	405					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCGTTCCAAGGTGGTTTCCCT	0.443																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													126	119	121					20																	47587679		2203	4300	6503	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1213G>A	20.37:g.47587679G>A	ENSP00000360985:p.Val405Met		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.V405M	ENST00000371917.4	37	c.1213	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278441	0.80692	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.44482	0.92	5.76	5.76	0.90799	Armadillo-type fold (1);	0.174307	0.46758	N	0.000261	T	0.50837	0.1639	M	0.62209	1.925	0.44110	D	0.996885	P	0.46064	0.872	P	0.51615	0.675	T	0.53222	-0.8469	10	0.72032	D	0.01	.	9.8001	0.40759	0.1878:0.0:0.8122:0.0	.	405	Q9Y6D5	BIG2_HUMAN	M	405	ENSP00000360985:V405M	ENSP00000360985:V405M	V	+	1	0	ARFGEF2	47021086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.226000	0.58606	2.731000	0.93534	0.650000	0.86243	GTG	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.443	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	-	0	77	0	G	NM_006420		47587679	1	tier1	-	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	19.20	101	24	SNP	1.000	A	A	47587679	G	A	47587679	3	1	89	1	0	0	0	0	1	0	0	0	853	1261	44	3	1251	3	ARFGEF2	20	47587679	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4344449	47587679	15437841	343	25709											
CSE1L	1434	genome.wustl.edu	37	chr20	47710696	47710697	+	Frame_Shift_Ins	INS	-	-	A																															aatgtttggaatggttttggINSaaaaaattattattcctgaa																										TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:47710696_47710697insA	ENST00000262982.2	+	23	2590_2591	c.2467_2468insA	c.(2467-2469)gaafs	p.E823fs	CSE1L_ENST00000396192.3_Frame_Shift_Ins_p.E767fs|CSE1L_ENST00000542325.1_Frame_Shift_Ins_p.E606fs|CSE1L_ENST00000469700.1_3'UTR	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	823					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AATGGTTTTGGAAAAAATTATT	0.292																																																	0																																										SO:0001589	frameshift_variant	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"Exportins"	2431	protein-coding gene	gene with protein product	"cellular apoptosis susceptibility"	601342	"chromosome segregation 1 (yeast homolog)-like"			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2473dupA	20.37:g.47710702_47710702dupA	ENSP00000262982:p.Glu823fs		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Frame_Shift_Ins	INS	pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I825fs	ENST00000262982.2	37	c.2467_2468	CCDS13412.1	20																																																																																			CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold	ENSG00000124207		0.292	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2		0	119	0	-	NM_001316		47710697	1	tier1		no_errors	ENST00000262982	ensembl	human	known	74_37	frame_shift_ins	21.25	63	17	INS	1.000:1.000	A	A	47710697	-	A	47710696	7	5	89	1	0	1	1	0	0	0	0	0	3939	1175	41	0	2553	0	CSE1L	20	47710696	Frame_Shift_Ins	INS	-	TCGA-L5-A8NQ-01A-11D-A36J-09	123017	47710696	15314824	344	25710											
YTHDF1	54915	genome.wustl.edu	37	chr20	61834342	61834342	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctgctgagggctctgaTactgcggttgagccaaagct	7	10	15	9	1	1	3	0	3	1	0	1	3	1	3	1	3	5	5	1	3	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:61834342T>A	ENST00000370339.3	-	4	1291	c.950A>T	c.(949-951)tAt>tTt	p.Y317F	YTHDF1_ENST00000370333.4_Missense_Mutation_p.Y267F|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	317	Gln/Pro-rich.						N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AGGGCTCTGATACTGCGGTTG	0.672																																																	0													24	29	27					20																	61834342		2198	4284	6482	SO:0001583	missense	0			AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"YTH domain family 1"	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.950A>T	20.37:g.61834342T>A	ENSP00000359364:p.Tyr317Phe		Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	pfam_YTH_domain,pfscan_YTH_domain	p.Y317F	ENST00000370339.3	37	c.950	CCDS13511.1	20	.	.	.	.	.	.	.	.	.	.	T	3.250	-0.153467	0.06585	.	.	ENSG00000149658	ENST00000370339;ENST00000370333;ENST00000342761	T;T	0.44881	0.91;0.91	4.7	4.7	0.59300	.	0.804488	0.12293	N	0.481854	T	0.40347	0.1113	L	0.57536	1.79	0.36478	D	0.867641	B	0.20671	0.047	B	0.22386	0.039	T	0.38520	-0.9657	10	0.11182	T	0.66	-5.0832	14.4695	0.67506	0.0:0.0:0.0:1.0	.	317	Q9BYJ9	YTHD1_HUMAN	F	317;267;133	ENSP00000359364:Y317F;ENSP00000359358:Y267F	ENSP00000339489:Y133F	Y	-	2	0	YTHDF1	61304787	1.000000	0.71417	0.550000	0.28217	0.149000	0.21700	5.985000	0.70556	1.889000	0.54706	0.472000	0.43445	TAT	YTHDF1	-	NULL	ENSG00000149658		0.672	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YTHDF1	HGNC	protein_coding	OTTHUMT00000080110.2	-	0	44	0	T	NM_017798		61834342	-1	tier1	-	no_errors	ENST00000370339	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	A	A	61834342	T	A	61834342	3	1	89	1	0	0	0	0	1	0	0	0	17547	1406	49	5	737	5	YTHDF1	20	61834342	Missense_Mutation	SNP	T	TCGA-L5-A8NQ-01A-11D-A36J-09	14123646	61834342	1191178	345	25711											
PRIC285	85441	genome.wustl.edu	37	chr20	62194139	62194139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggagccggcagcccctcGagccggatgcagaggtagca	8	4	17	12	3	0	1	0	0	0	1	1	4	0	3	4	4	5	4	4	4	1	1	rs140899217		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr20:62194139G>A	ENST00000467148.1	-	8	6105	c.6036C>T	c.(6034-6036)ctC>ctT	p.L2012L	HELZ2_ENST00000427522.2_Silent_p.L1443L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2012					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCAGCCCCTCGAGCCGGATGC	0.701													G|||	1	0.000199681	0	0	5008	,	,		12788	0		0	False		,,,				2504	0.001																0								G	,	1,4327		0,1,2163	11	14	13		6036,4329	-8.6	0.7	20	dbSNP_134	13	0,8476		0,0,4238	no	coding-synonymous,coding-synonymous	PRIC285	NM_001037335.2,NM_033405.3	,	0,1,6401	AA,AG,GG		0.0,0.0231,0.0078	,	2012/2650,1443/2081	62194139	1,12803	2164	4238	6402	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6036C>T	20.37:g.62194139G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.L2012	ENST00000467148.1	37	c.6036	CCDS33508.1	20																																																																																			HELZ2	-	NULL	ENSG00000130589		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1		0	52	0	G	NM_001037335		62194139	-1			no_errors	ENST00000467148	ensembl	human	known	74_37	silent	6.17	76	5	SNP	0.326	A	A	62194139	G	A	62194139	2	1	89	1	0	0	0	0	0	0	0	1	12527	1045	37	1		1	PRIC285	20	62194139	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	359797	62194139	831381	346	25712											
HUNK	30811	genome.wustl.edu	37	chr21	33346945	33346945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaagaacagcgacgtgatCaacactgtgctctccaaccg	13	7	8	13	3	2	2	1	1	1	1	3	3	2	2	2	0	6	1	2	0	5	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr21:33346945C>G	ENST00000270112.2	+	7	1449	c.1089C>G	c.(1087-1089)atC>atG	p.I363M	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	363					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCGACGTGATCAACACTGTGC	0.547																																																	0													117	101	107					21																	33346945		2203	4300	6503	SO:0001583	missense	0			AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"hormonally upregulated Neu-associated kinase"			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1089C>G	21.37:g.33346945C>G	ENSP00000270112:p.Ile363Met			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I363M	ENST00000270112.2	37	c.1089	CCDS13610.1	21	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571217	0.45798	.	.	ENSG00000142149	ENST00000270112	T	0.70749	-0.51	4.51	4.51	0.55191	.	0.126578	0.52532	D	0.000061	T	0.61590	0.2359	L	0.29908	0.895	0.47698	D	0.999498	B	0.25441	0.126	B	0.27500	0.08	T	0.58515	-0.7623	10	0.32370	T	0.25	-15.9659	17.8055	0.88600	0.0:1.0:0.0:0.0	.	363	P57058	HUNK_HUMAN	M	363	ENSP00000270112:I363M	ENSP00000270112:I363M	I	+	3	3	HUNK	32268816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.040000	0.57333	2.507000	0.84556	0.561000	0.74099	ATC	HUNK	-	NULL	ENSG00000142149		0.547	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUNK	HGNC	protein_coding	OTTHUMT00000192782.1	-	0	28	0	C	NM_014586		33346945	1	tier1	-	no_errors	ENST00000270112	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	G	G	33346945	C	G	33346945	3	3	89	1	0	0	0	0	1	0	0	0	7485	816	29	5	1115	5	HUNK	21	33346945	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09		33346945	14782950	347	25713											
IL10RB	3588	genome.wustl.edu	37	chr21	34655516	34655516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaagctggggaatggagtGagcctgtctgtgagcaaaca	13	7	14	7	0	1	2	0	2	1	0	1	4	1	4	1	3	4	2	1	3	3	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr21:34655516G>C	ENST00000290200.2	+	5	724	c.616G>C	c.(616-618)Gag>Cag	p.E206Q	AP000295.9_ENST00000433395.2_Nonstop_Mutation_p.*333V	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	206	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GGAATGGAGTGAGCCTGTCTG	0.488																																					Melanoma(67;315 1275 21667 21943 44564)												0													136	123	128					21																	34655516		2203	4300	6503	SO:0001583	missense	0			U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"Interleukins and interleukin receptors", "CD molecules"	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.616G>C	21.37:g.34655516G>C	ENSP00000290200:p.Glu206Gln		Q9BUU4	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.E206Q	ENST00000290200.2	37	c.616	CCDS13623.1	21	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051201	0.75960	.	.	ENSG00000243646	ENST00000290200;ENST00000539894	T	0.30981	1.51	5.49	0.463	0.16700	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.712402	0.13833	N	0.359590	T	0.14270	0.0345	N	0.13235	0.315	0.09310	N	0.999991	B;B;B;B	0.17268	0.021;0.01;0.021;0.004	B;B;B;B	0.14023	0.01;0.005;0.007;0.003	T	0.33317	-0.9873	10	0.15066	T	0.55	-9.8185	6.5638	0.22501	0.2821:0.2464:0.4715:0.0	.	208;206;206;206	Q6ZVU9;Q08334;B4DSX5;F5H766	.;I10R2_HUMAN;.;.	Q	206	ENSP00000290200:E206Q	ENSP00000290200:E206Q	E	+	1	0	IL10RB	33577386	0.007000	0.16637	0.202000	0.23494	0.718000	0.41266	-0.120000	0.10660	-0.190000	0.10465	0.561000	0.74099	GAG	IL10RB	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	ENSG00000243646		0.488	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL10RB	HGNC	protein_coding	OTTHUMT00000139831.3	-	0	56	0	G			34655516	1	tier1	-	no_errors	ENST00000290200	ensembl	human	known	74_37	missense	7.95	81	7	SNP	0.396	C	C	34655516	G	C	34655516	3	2	89	1	0	0	0	0	1	0	0	0	7648	1291	45	5	634	5	IL10RB	21	34655516	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1308571	34655516	13474379	348	25714											
DSCR3	10311	genome.wustl.edu	37	chr21	38600650	38600650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagttgagatgtcctcgaaGgagaaatttgggaagcaaag	14	9	14	4	1	0	3	0	2	0	2	2	7	1	4	1	2	1	2	1	2	4	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr21:38600650G>T	ENST00000309117.6	-	6	769	c.532C>A	c.(532-534)Ctt>Att	p.L178I	DSCR3_ENST00000398998.1_Missense_Mutation_p.L130I|DSCR3_ENST00000399001.1_Missense_Mutation_p.L53I|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000476950.1_Missense_Mutation_p.L151I|DSCR3_ENST00000539844.1_Missense_Mutation_p.L101I|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000288304.5_Missense_Mutation_p.L136I	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	178						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						TGTCCTCGAAGGAGAAATTTG	0.473																																																	0													64	65	65					21																	38600650		2203	4300	6503	SO:0001583	missense	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.532C>A	21.37:g.38600650G>T	ENSP00000311399:p.Leu178Ile		B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	p.L178I	ENST00000309117.6	37	c.532	CCDS33553.1	21	.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096898	0.07010	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000539844;ENST00000399001;ENST00000476950;ENST00000398998	.	.	.	5.42	3.03	0.35002	.	0.219769	0.47093	N	0.000243	T	0.09113	0.0225	N	0.00666	-1.275	0.28428	N	0.91739	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.14023	0.004;0.01;0.001;0.002	T	0.36986	-0.9725	9	0.02654	T	1	-1.6949	8.5139	0.33235	0.0:0.0685:0.1336:0.7978	.	53;101;151;178	A8MY26;B7Z606;B7Z6B1;O14972	.;.;.;DSCR3_HUMAN	I	178;136;101;53;151;130	.	ENSP00000288304:L136I	L	-	1	0	DSCR3	37522520	1.000000	0.71417	0.893000	0.35052	0.949000	0.60115	2.758000	0.47565	0.452000	0.26830	-0.266000	0.10368	CTT	DSCR3	-	pfam_VPS26	ENSG00000157538		0.473	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	HGNC	protein_coding	OTTHUMT00000194807.1		0	33	0	G			38600650	-1			no_errors	ENST00000309117	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.993	T	T	38600650	G	T	38600650	3	4	89	1	0	0	0	0	1	0	0	0	4785	1000	35	3	373	3	DSCR3	21	38600650	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	3945134	38600650	9529245	349	25715											
COL6A2	1292	genome.wustl.edu	37	chr21	47542073	47542073	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaccccgaggagcacccGtgagtcacagcctgggatgg	9	4	15	13	2	1	1	1	1	0	0	1	5	1	4	4	4	2	1	4	4	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr21:47542073G>A	ENST00000300527.4	+	19	1676		c.e19+1		COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGGAGCACCCGTGAGTCACAG	0.627																																																	0			GRCh37	CS075105	COL6A2	S							35	36	36					21																	47542073		2198	4296	6494	SO:0001630	splice_region_variant	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"Collagens"	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1572+1G>A	21.37:g.47542073G>A			Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Splice_Site	SNP	-	e18+1	ENST00000300527.4	37	c.1572+1	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807311	0.50421	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	.	.	.	4.46	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4862	0.84184	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A2	46366501	1.000000	0.71417	0.565000	0.28409	0.436000	0.31835	6.487000	0.73633	2.209000	0.71365	0.491000	0.48974	.	COL6A2	-	-	ENSG00000142173		0.627	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0	87	0	G		Intron	47542073	1	tier1	-	no_errors	ENST00000300527	ensembl	human	known	74_37	splice_site	10.77	58	7	SNP	1.000	A	A	47542073	G	A	47542073	5	1	89	1	0	0	0	0	0	0	1	0	3707	1159	40	1	1643	1	COL6A2	21	47542073	Splice_Site	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	8941423	47542073	587822	350	25716											
MMP11	4320	genome.wustl.edu	37	chr22	24121532	24121532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgacccatctgatgggctGagtgcccgcaaccgacagaa	10	5	11	15	3	1	3	0	2	1	1	1	5	1	3	4	1	2	2	4	1	2	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr22:24121532G>A	ENST00000215743.3	+	2	319	c.267G>A	c.(265-267)ctG>ctA	p.L89L	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	89					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L89L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CTGATGGGCTGAGTGCCCGCA	0.682																																																	1	Substitution - coding silent(1)	lung(1)											22	23	23					22																	24121532		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.267G>A	22.37:g.24121532G>A			Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.L89	ENST00000215743.3	37	c.267	CCDS13816.1	22																																																																																			MMP11	-	pirsf_Pept_M10A_Metazoans	ENSG00000099953		0.682	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	-	0	79	0	G	NM_005940		24121532	1	tier1	-	no_errors	ENST00000215743	ensembl	human	known	74_37	silent	20.00	80	20	SNP	0.010	A	A	24121532	G	A	24121532	2	1	89	1	0	0	0	0	0	0	0	1	9688	1277	45	3		3	MMP11	22	24121532	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		24121532	27183034	351	25717											
ASPHD2	57168	genome.wustl.edu	37	chr22	26830127	26830127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccctatttctcccgggaCgcacagaaacatgatgtgga	11	8	10	12	3	1	2	0	1	1	1	2	4	1	4	2	2	1	1	2	2	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr22:26830127C>T	ENST00000215906.5	+	2	984	c.546C>T	c.(544-546)gaC>gaT	p.D182D		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	182					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TCTCCCGGGACGCACAGAAAC	0.592																																																	0													42	43	43					22																	26830127		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.546C>T	22.37:g.26830127C>T			B2RCH3|Q7L0W3|Q9NSN3	Silent	SNP	pfam_Asp_Arg_b-Hydrxlase	p.D182	ENST00000215906.5	37	c.546	CCDS13834.2	22																																																																																			ASPHD2	-	NULL	ENSG00000128203		0.592	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	-	0	74	0	C	NM_020437		26830127	1	tier1	-	no_errors	ENST00000215906	ensembl	human	known	74_37	silent	24.62	49	16	SNP	0.234	T	T	26830127	C	T	26830127	2	4	89	1	0	0	0	0	0	0	0	1	1056	535	19	1		1	ASPHD2	22	26830127	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2708595	26830127	24474439	352	25718											
TCN2	6948	genome.wustl.edu	37	chr22	31010381	31010381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactagctactaccagtatgGcctgggcattctggccctgt	7	11	10	13	0	1	0	0	0	1	0	1	0	1	0	3	3	3	3	3	3	4	5			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr22:31010381G>T	ENST00000215838.3	+	4	967	c.473G>T	c.(472-474)gGc>gTc	p.G158V	TCN2_ENST00000407817.3_Missense_Mutation_p.G131V|TCN2_ENST00000405742.3_Missense_Mutation_p.G154V			P20062	TCO2_HUMAN	transcobalamin II	158					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACCAGTATGGCCTGGGCATT	0.587																																																	0													109	84	93					22																	31010381		2203	4300	6503	SO:0001583	missense	0				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"macrocytic anemia"	613441	"transcobalamin II; macrocytic anemia"			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.473G>T	22.37:g.31010381G>T	ENSP00000215838:p.Gly158Val		Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.G158V	ENST00000215838.3	37	c.473	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663308	0.67700	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.37752	1.18;1.18;1.18	5.18	5.18	0.71444	.	0.443292	0.28088	N	0.016642	T	0.56077	0.1961	M	0.68317	2.08	0.80722	D	1	P;D;D	0.65815	0.942;0.991;0.995	P;P;D	0.63283	0.798;0.788;0.913	T	0.57476	-0.7805	10	0.54805	T	0.06	-14.7073	15.6115	0.76721	0.0:0.0:1.0:0.0	.	131;154;158	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	V	158;154;131	ENSP00000215838:G158V;ENSP00000385914:G154V;ENSP00000384914:G131V	ENSP00000215838:G158V	G	+	2	0	TCN2	29340381	1.000000	0.71417	0.990000	0.47175	0.741000	0.42261	5.653000	0.67967	2.428000	0.82296	0.555000	0.69702	GGC	TCN2	-	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000185339		0.587	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2		0	131	0	G	NM_000355		31010381	1			no_errors	ENST00000215838	ensembl	human	known	74_37	missense	5.49	86	5	SNP	0.996	T	T	31010381	G	T	31010381	3	4	89	1	0	0	0	0	1	0	0	0	15754	1203	42	3	487	3	TCN2	22	31010381	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	4180254	31010381	20294185	353	25719											
SMTN	6525	genome.wustl.edu	37	chr22	31494798	31494798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgcgcaaggccatgattGagaagctggagaaggagggc	12	4	18	7	2	0	3	0	2	0	2	0	6	0	4	1	5	1	2	1	5	3	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr22:31494798G>A	ENST00000347557.2	+	17	2523	c.2305G>A	c.(2305-2307)Gag>Aag	p.E769K	SMTN_ENST00000404574.1_Missense_Mutation_p.E292K|SMTN_ENST00000358743.1_Missense_Mutation_p.E769K|SMTN_ENST00000333137.7_Missense_Mutation_p.E769K	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	769					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGCCATGATTGAGAAGCTGGA	0.657																																																	0													12	17	15					22																	31494798		2197	4278	6475	SO:0001583	missense	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2305G>A	22.37:g.31494798G>A	ENSP00000328635:p.Glu769Lys		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E769K	ENST00000347557.2	37	c.2305	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.692685	0.96793	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000455608;ENST00000404574;ENST00000403419	T;T;T;T;D	0.93426	-0.13;-0.52;-0.53;1.78;-3.22	5.34	5.34	0.76211	.	0.000000	0.38381	N	0.001702	D	0.96470	0.8848	M	0.69823	2.125	0.80722	D	1	P;D;D;D;D;P;D;P	0.76494	0.863;0.998;0.997;0.997;0.999;0.751;0.999;0.916	P;D;D;D;D;P;D;P	0.78314	0.644;0.989;0.985;0.985;0.991;0.644;0.991;0.805	D	0.96578	0.9428	10	0.72032	D	0.01	-29.813	19.4284	0.94754	0.0:0.0:1.0:0.0	.	825;854;149;292;792;769;769;769	E7ETT8;B4E229;B5MBZ4;B5MCI0;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;.;.;SMTN_HUMAN;.	K	769;769;769;767;792;170;292;149	ENSP00000351593:E769K;ENSP00000328635:E769K;ENSP00000329532:E769K;ENSP00000392329:E170K;ENSP00000383919:E292K	ENSP00000329393:E767K	E	+	1	0	SMTN	29824798	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	6.269000	0.72558	2.686000	0.91538	0.561000	0.74099	GAG	SMTN	-	NULL	ENSG00000183963		0.657	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	-	0	99	0	G	NM_134270		31494798	1	tier1	-	no_errors	ENST00000347557	ensembl	human	known	74_37	missense	31.67	41	19	SNP	1.000	A	A	31494798	G	A	31494798	3	1	89	1	0	0	0	0	1	0	0	0	14859	1291	45	3	2367	3	SMTN	22	31494798	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	484417	31494798	19809768	354	25720											
GRAMD4	23151	genome.wustl.edu	37	chr22	47069633	47069633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggtaaagaggaggacGccggtcgcttccacagcacc	9	5	14	13	3	0	1	0	0	0	1	2	3	1	3	4	4	1	3	4	4	2	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chr22:47069633G>A	ENST00000406902.1	+	15	1519	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T	GRAMD4_ENST00000408031.1_5'Flank|GRAMD4_ENST00000361034.3_Missense_Mutation_p.A436T			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	436					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGAGGAGGACGCCGGTCGCTT	0.617																																																	0													93	101	98					22																	47069633		2203	4300	6503	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1306G>A	22.37:g.47069633G>A	ENSP00000385689:p.Ala436Thr		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.A436T	ENST00000406902.1	37	c.1306	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	g	7.377	0.628034	0.14257	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.42131	0.98;0.98	4.97	-7.16	0.01516	.	0.677036	0.13785	N	0.362923	T	0.11024	0.0269	N	0.02916	-0.46	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32587	-0.9901	10	0.05959	T	0.93	-4.6326	6.3502	0.21370	0.54:0.0:0.2398:0.2202	.	436	Q6IC98	GRAM4_HUMAN	T	436	ENSP00000385689:A436T;ENSP00000354313:A436T	ENSP00000354313:A436T	A	+	1	0	GRAMD4	45448297	0.000000	0.05858	0.000000	0.03702	0.840000	0.47671	-0.384000	0.07389	-1.205000	0.02645	0.313000	0.20887	GCC	GRAMD4	-	NULL	ENSG00000075240		0.617	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	-	0	121	0	G	NM_015124		47069633	1	tier1	-	no_errors	ENST00000361034	ensembl	human	known	74_37	missense	15.00	85	15	SNP	0.000	A	A	47069633	G	A	47069633	3	1	89	1	0	0	0	0	1	0	0	0	6779	1087	38	1	1360	1	GRAMD4	22	47069633	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	15574835	47069633	4234933	355	25721											
MOSPD2	158747	genome.wustl.edu	37	chrX	14921098	14921098	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctttcagcaaaaatagtGatctttgatatgccttggtt	11	16	7	7	0	3	2	1	2	2	0	3	2	3	2	1	1	2	2	1	1	4	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:14921098G>C	ENST00000380492.3	+	7	637	c.549G>C	c.(547-549)gtG>gtC	p.V183V	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Silent_p.V183V	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	183	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					CAAAAATAGTGATCTTTGATA	0.289																																																	0													103	92	95					X																	14921098		2201	4296	6497	SO:0001819	synonymous_variant	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.549G>C	X.37:g.14921098G>C			Q8N3H2|Q8NA83	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.V183	ENST00000380492.3	37	c.549	CCDS14162.1	X																																																																																			MOSPD2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000130150		0.289	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1	-	0	71	0	G	NM_152581		14921098	1	tier1	-	no_errors	ENST00000380492	ensembl	human	known	74_37	silent	12.77	41	6	SNP	0.618	C	C	14921098	G	C	14921098	2	2	89	1	0	0	0	0	0	0	0	1	9754	1277	45	5		5	MOSPD2	23	14921098	Silent	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09		14921098	140349462	356	25722											
ACE2	59272	genome.wustl.edu	37	chrX	15584415	15584415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttctaggaatgatatcaGacacatttttaggtgcagtg	12	13	10	6	0	2	2	1	1	1	1	2	3	2	3	0	2	1	2	0	2	4	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:15584415G>A	ENST00000252519.3	-	16	2177	c.2075C>T	c.(2074-2076)tCt>tTt	p.S692F	ACE2_ENST00000427411.1_Missense_Mutation_p.S692F|ACE2_ENST00000471548.1_5'Flank			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	692					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AATGATATCAGACACATTTTT	0.383																																																	0													181	169	173					X																	15584415		2203	4300	6503	SO:0001583	missense	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"peptidyl-dipeptidase A"	300335	"angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2075C>T	X.37:g.15584415G>A	ENSP00000252519:p.Ser692Phe		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.S692F	ENST00000252519.3	37	c.2075	CCDS14169.1	X	.	.	.	.	.	.	.	.	.	.	G	14.92	2.677982	0.47886	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.88124	-2.34;-2.34	5.68	-1.02	0.10135	.	0.805437	0.11801	N	0.528149	D	0.91456	0.7303	M	0.84433	2.695	0.09310	N	1	P	0.42248	0.774	P	0.55545	0.778	D	0.84786	0.0776	10	0.87932	D	0	-3.7638	9.1675	0.37060	0.0:0.4559:0.2068:0.3373	.	692	Q9BYF1	ACE2_HUMAN	F	692	ENSP00000252519:S692F;ENSP00000389326:S692F	ENSP00000252519:S692F	S	-	2	0	ACE2	15494336	0.006000	0.16342	0.000000	0.03702	0.029000	0.11900	1.627000	0.37050	-0.356000	0.08187	-0.225000	0.12378	TCT	ACE2	-	NULL	ENSG00000130234		0.383	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	-	0	49	0	G			15584415	-1	tier1	-	no_errors	ENST00000252519	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.000	A	A	15584415	G	A	15584415	3	1	89	1	0	0	0	0	1	0	0	0	137	942	33	3	354	3	ACE2	23	15584415	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	663317	15584415	139686145	357	25723											
SRPX	8406	genome.wustl.edu	37	chrX	38079995	38079995	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcagcagcagcagcagCagaggcggcagcagcagcag	12	0	16	13	2	0	1	0	0	0	1	0	1	0	1	0	2	9	11	0	2	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:38079995C>A	ENST00000378533.3	-	1	157	c.51G>T	c.(49-51)ctG>ctT	p.L17L	RP13-43E11.1_ENST00000423919.1_RNA|SRPX_ENST00000544439.1_Silent_p.L17L|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_Silent_p.L17L|SRPX_ENST00000432886.2_Silent_p.L17L|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	17					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						gcagcagcagcagaggcggca	0.736											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													3	3	3					X																	38079995		1576	3245	4821	SO:0001819	synonymous_variant	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.51G>T	X.37:g.38079995C>A		875	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L17	ENST00000378533.3	37	c.51	CCDS14245.1	X																																																																																			SRPX	-	NULL	ENSG00000101955		0.736	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1		0	25	0	C	NM_006307		38079995	-1			no_errors	ENST00000378533	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.004	A	A	38079995	C	A	38079995	2	1	89	1	0	0	0	0	0	0	0	1	15211	697	25	3		3	SRPX	23	38079995	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	22495580	38079995	117190565	358	25724											
BCOR	54880	genome.wustl.edu	37	chrX	39914677	39914677	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcatgatggttctacctGagtacgtagccaaggtgggg	8	13	13	7	1	2	2	1	2	1	0	2	2	2	2	2	4	3	3	2	4	4	6			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:39914677G>C	ENST00000378444.4	-	12	4913	c.4685C>G	c.(4684-4686)tCa>tGa	p.S1562*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.S1528*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.S1528*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.S1510*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.S405*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1562					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTCTACCTGAGTACGTAGC	0.418			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													127	106	113					X																	39914677		2202	4300	6502	SO:0001587	stop_gained	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4685C>G	X.37:g.39914677G>C	ENSP00000367705:p.Ser1562*		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1562*	ENST00000378444.4	37	c.4685	CCDS48093.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.111851|13.111851	0.99720|0.99720	.|.	.|.	ENSG00000183337|ENSG00000183337	ENST00000427012|ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000442018	.|.	.|.	.|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|.	.|.	.|.	.|.	T|.	0.78742|.	0.4331|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81437|.	-0.0933|.	3|.	.|0.72032	.|D	.|0.01	-14.4337|-14.4337	18.4686|18.4686	0.90765|0.90765	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	257|432;405;1510;1528;1562;1528;235	.|.	.|ENSP00000345923:S1528X	Q|S	-|-	1|2	0|0	BCOR|BCOR	39799621|39799621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.476000|9.476000	0.97823|0.97823	2.301000|2.301000	0.77427|0.77427	0.600000|0.600000	0.82982|0.82982	CAG|TCA	BCOR	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000183337		0.418	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	-	0	46	0	G	NM_017745		39914677	-1	tier1	-	no_errors	ENST00000378444	ensembl	human	known	74_37	nonsense	15.00	68	12	SNP	1.000	C	C	39914677	G	C	39914677	4	2	89	1	0	0	0	0	0	1	0	0	1387	1294	45	5	598	5	BCOR	23	39914677	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1834682	39914677	115355883	359	25725											
USP11	8237	genome.wustl.edu	37	chrX	47101642	47101642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagtgttccactgcctatCagccacaagagggtcttgga	9	10	10	12	0	3	1	2	0	1	1	4	2	4	2	3	2	2	1	3	2	2	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:47101642C>G	ENST00000218348.3	+	10	1470	c.1470C>G	c.(1468-1470)atC>atG	p.I490M	USP11_ENST00000377107.2_Missense_Mutation_p.I447M	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	490	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CACTGCCTATCAGCCACAAGA	0.582																																																	0													64	55	58					X																	47101642		2203	4300	6503	SO:0001583	missense	0			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1470C>G	X.37:g.47101642C>G	ENSP00000218348:p.Ile490Met		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.I490M	ENST00000218348.3	37	c.1470	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	C	4.788	0.146509	0.09134	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.31247	1.5;1.5	5.6	2.68	0.31781	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.070871	0.56097	D	0.000033	T	0.20210	0.0486	N	0.12637	0.245	0.23834	N	0.996718	B;P	0.39022	0.0;0.655	B;P	0.46629	0.002;0.522	T	0.21177	-1.0253	10	0.08837	T	0.75	-13.961	10.6661	0.45731	0.0:0.557:0.3594:0.0837	.	217;490	B3KP28;P51784	.;UBP11_HUMAN	M	447;490	ENSP00000366311:I447M;ENSP00000218348:I490M	ENSP00000218348:I490M	I	+	3	3	USP11	46986586	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	0.463000	0.21972	0.538000	0.28769	0.600000	0.82982	ATC	USP11	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000102226		0.582	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	HGNC	protein_coding		-	0	49	0	C	NM_004651		47101642	1	tier1	-	no_errors	ENST00000218348	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	G	G	47101642	C	G	47101642	3	3	89	1	0	0	0	0	1	0	0	0	17091	816	29	5	1508	5	USP11	23	47101642	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	7186965	47101642	108168918	360	25726											
CFP	5199	genome.wustl.edu	37	chrX	47489004	47489004	+	Frame_Shift_Del	DEL	C	C	-																															agtcttccacgctgacaccaCcccccaggaggcccttgcac																										TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:47489004delC	ENST00000396992.3	-	2	266	c.146delG	c.(145-147)ggtfs	p.G50fs	CFP_ENST00000247153.3_Frame_Shift_Del_p.G50fs|CFP_ENST00000377005.2_Frame_Shift_Del_p.G50fs|CFP_ENST00000480317.1_5'UTR	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	50	TSP type-1 0. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GCTGACACCACCCCCCAGGAG	0.612																																																	0													26	19	21					X																	47489004		2165	4241	6406	SO:0001589	frameshift_variant	0			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"Complement system"	8864	protein-coding gene	gene with protein product		300383	"properdin P factor, complement"	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.146delG	X.37:g.47489004delC	ENSP00000380189:p.Gly50fs		O15134|O15135|O15136|O75826	Frame_Shift_Del	DEL	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G49fs	ENST00000396992.3	37	c.146	CCDS14282.1	X																																																																																			CFP	-	NULL	ENSG00000126759		0.612	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2		0	69	0	C	NM_002621		47489004	-1	tier1		no_errors	ENST00000247153	ensembl	human	known	74_37	frame_shift_del	5.41	35	2	DEL	0.000	-	-	47489004	C	-	47489004	7	5	89	1	0	1	0	1	0	0	0	0	3300	507	18	0	1295	0	CFP	23	47489004	Frame_Shift_Del	DEL	C	TCGA-L5-A8NQ-01A-11D-A36J-09	387362	47489004	107781556	361	25727											
GPR173	54328	genome.wustl.edu	37	chrX	53105819	53105819	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtatggccaacactaccGgagagcctgaggaggtgagc	11	6	14	10	1	1	3	1	2	0	1	1	5	1	4	3	4	4	1	3	4	3	2	rs376160793		TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:53105819G>T	ENST00000332582.4	+	2	507	c.16G>T	c.(16-18)Gga>Tga	p.G6*		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	6					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CAACACTACCGGAGAGCCTGA	0.632																																																	0													56	41	46					X																	53105819		2203	4300	6503	SO:0001587	stop_gained	0			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"GPCR / Class A : Orphans"	18186	protein-coding gene	gene with protein product		300253	"G-protein coupled receptor 173", "G protein coupled receptor 173"			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.16G>T	X.37:g.53105819G>T	ENSP00000331600:p.Gly6*		B1B0A5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G6*	ENST00000332582.4	37	c.16	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.560552	0.96527	.	.	ENSG00000184194	ENST00000332582;ENST00000375466	.	.	.	4.12	4.12	0.48240	.	0.551409	0.16694	N	0.203422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-2.031	10.7506	0.46207	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000331600:G6X	G	+	1	0	GPR173	53122544	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.311000	0.51919	1.901000	0.55032	0.529000	0.55759	GGA	GPR173	-	NULL	ENSG00000184194		0.632	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	-	0	43	0	G	NM_018969		53105819	1	tier1	-	no_errors	ENST00000332582	ensembl	human	known	74_37	nonsense	9.09	39	4	SNP	1.000	T	T	53105819	G	T	53105819	4	4	89	1	0	0	0	0	0	1	0	0	6697	1117	39	2	18	2	GPR173	23	53105819	Nonsense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	5616815	53105819	102164741	362	25728											
FOXR2	139628	genome.wustl.edu	37	chrX	55650499	55650499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccccacaaaaagacgaaGggtctaactgctcagaggac	15	4	10	12	1	2	2	1	0	1	2	2	4	2	3	2	2	3	1	2	2	4	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:55650499G>A	ENST00000339140.3	+	1	667	c.355G>A	c.(355-357)Ggg>Agg	p.G119R		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	119					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAAAGACGAAGGGTCTAACTG	0.527																																																	0													66	61	63					X																	55650499		2203	4300	6503	SO:0001583	missense	0			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"Forkhead boxes"	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.355G>A	X.37:g.55650499G>A	ENSP00000427329:p.Gly119Arg			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G119R	ENST00000339140.3	37	c.355	CCDS35308.1	X	.	.	.	.	.	.	.	.	.	.	G	2.720	-0.266775	0.05754	.	.	ENSG00000189299	ENST00000339140	D	0.93659	-3.26	3.42	1.55	0.23275	.	2.852280	0.01319	N	0.010879	D	0.84115	0.5401	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74287	-0.3714	10	0.17832	T	0.49	.	3.799	0.08751	0.1482:0.2523:0.5995:0.0	.	119	Q6PJQ5	FOXR2_HUMAN	R	119	ENSP00000427329:G119R	ENSP00000427329:G119R	G	+	1	0	FOXR2	55667224	0.417000	0.25432	0.000000	0.03702	0.012000	0.07955	0.557000	0.23454	0.277000	0.22141	0.600000	0.82982	GGG	FOXR2	-	NULL	ENSG00000189299		0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	-	0	37	0	G	NM_198451		55650499	1	tier1	-	no_errors	ENST00000339140	ensembl	human	known	74_37	missense	23.40	36	11	SNP	0.001	A	A	55650499	G	A	55650499	3	1	89	1	0	0	0	0	1	0	0	0	6056	1000	35	3	357	3	FOXR2	23	55650499	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	2544680	55650499	99620061	363	25729											
RPA4	29935	genome.wustl.edu	37	chrX	96139347	96139347	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagctatggcagcatttCtgctgctgatggagcgagtg	7	11	16	7	1	1	1	0	1	1	0	1	4	1	3	0	3	5	5	0	3	1	2			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:96139347C>G	ENST00000373040.3	+	1	441	c.38C>G	c.(37-39)tCt>tGt	p.S13C	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	13					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGCAGCATTTCTGCTGCTGAT	0.542								Other identified genes with known or suspected DNA repair function																																									0													88	73	78					X																	96139347		2203	4300	6503	SO:0001583	missense	0			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.38C>G	X.37:g.96139347C>G	ENSP00000362131:p.Ser13Cys		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32	p.S13C	ENST00000373040.3	37	c.38	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765000	0.31228	.	.	ENSG00000204086	ENST00000373040	T	0.19394	2.15	3.34	0.783	0.18572	.	.	.	.	.	T	0.23054	0.0557	L	0.38175	1.15	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.12116	-1.0560	9	0.87932	D	0	.	4.9429	0.13975	0.0:0.5137:0.0:0.4863	.	13	Q13156	RFA4_HUMAN	C	13	ENSP00000362131:S13C	ENSP00000362131:S13C	S	+	2	0	RPA4	96026003	0.000000	0.05858	0.015000	0.15790	0.007000	0.05969	-0.488000	0.06497	0.021000	0.15133	0.600000	0.82982	TCT	RPA4	-	pirsf_RPA32	ENSG00000204086		0.542	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1		0	41	0	C	NM_013347		96139347	1			no_errors	ENST00000373040	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.014	G	G	96139347	C	G	96139347	3	3	89	1	0	0	0	0	1	0	0	0	13584	913	32	5	40	5	RPA4	23	96139347	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	40488848	96139347	59131213	364	25730											
THOC2	57187	genome.wustl.edu	37	chrX	122799634	122799634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagcttgttttggtgctctCttgttttgcaaagcattaac	7	18	8	8	0	2	0	1	0	1	0	3	0	2	0	0	1	5	6	0	1	2	7			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:122799634C>G	ENST00000245838.8	-	12	1276	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N	THOC2_ENST00000491737.1_Missense_Mutation_p.K300N|THOC2_ENST00000355725.4_Missense_Mutation_p.K415N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	415					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGGTGCTCTCTTGTTTTGCA	0.343																																																	0													169	156	160					X																	122799634		1848	4093	5941	SO:0001583	missense	0			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"THO complex subunits"	19073	protein-coding gene	gene with protein product		300395	"chromosome X open reading frame 3"	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1245G>C	X.37:g.122799634C>G	ENSP00000245838:p.Lys415Asn		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.K415N	ENST00000245838.8	37	c.1245	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	C	8.866	0.948226	0.18356	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.7	3.93	0.45458	.	0.000000	0.64402	D	0.000001	T	0.51109	0.1655	L	0.46157	1.445	0.54753	D	0.999987	B;B	0.10296	0.001;0.003	B;B	0.12156	0.002;0.007	T	0.41466	-0.9507	9	0.15499	T	0.54	-11.3569	10.9497	0.47321	0.0:0.8458:0.0:0.1542	.	336;415	B4DKZ6;Q8NI27	.;THOC2_HUMAN	N	415;415;300;336	.	ENSP00000245838:K415N	K	-	3	2	THOC2	122627315	1.000000	0.71417	0.986000	0.45419	0.578000	0.36192	1.293000	0.33353	1.159000	0.42565	0.600000	0.82982	AAG	THOC2	-	NULL	ENSG00000125676		0.343	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	-	0	33	0	C			122799634	-1	tier1	-	no_errors	ENST00000245838	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.988	G	G	122799634	C	G	122799634	3	3	89	1	0	0	0	0	1	0	0	0	15912	912	32	5	3644	5	THOC2	23	122799634	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	26660287	122799634	32470926	365	25731											
PHF6	84295	genome.wustl.edu	37	chrX	133547596	133547596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaaagaaaagtcgcaaagGaaggccaagaaaaactaatt	23	5	8	5	1	0	2	0	0	0	2	1	3	0	3	1	2	1	1	1	2	11	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:133547596G>T	ENST00000332070.3	+	6	696	c.494G>T	c.(493-495)gGa>gTa	p.G165V	PHF6_ENST00000370799.1_Missense_Mutation_p.G166V|PHF6_ENST00000416404.2_Missense_Mutation_p.G131V|PHF6_ENST00000370803.3_Missense_Mutation_p.G165V|PHF6_ENST00000394292.1_Missense_Mutation_p.G166V|PHF6_ENST00000370800.4_Missense_Mutation_p.G166V	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					AGTCGCAAAGGAAGGCCAAGA	0.358			"F, N, Splice, Mis"		ETP ALL																																Colon(100;666 1493 6344 21231 35807)			Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	0													94	91	92					X																	133547596		2202	4300	6502	SO:0001583	missense	0			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"Zinc fingers, PHD-type"	18145	protein-coding gene	gene with protein product	"centromere protein 31"	300414	"Borjeson-Forssman-Lehmann syndrome"	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.494G>T	X.37:g.133547596G>T	ENSP00000329097:p.Gly165Val		A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.G166V	ENST00000332070.3	37	c.497	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413283	0.62511	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.1;-2.68;-1.7;-2.17	5.71	4.85	0.62838	.	0.095122	0.64402	D	0.000001	D	0.88351	0.6413	L	0.29908	0.895	0.80722	D	1	P;D;P;P;D	0.58268	0.917;0.969;0.917;0.917;0.982	B;P;B;B;P	0.51866	0.348;0.483;0.348;0.401;0.682	D	0.86311	0.1686	10	0.30078	T	0.28	-12.1044	12.9718	0.58517	0.0793:0.0:0.9207:0.0	.	131;165;165;166;166	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	V	165;165;166;166;131;166	ENSP00000359839:G165V;ENSP00000329097:G165V;ENSP00000377831:G166V;ENSP00000359835:G166V;ENSP00000394480:G131V;ENSP00000359836:G166V	ENSP00000329097:G165V	G	+	2	0	PHF6	133375262	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.838000	0.75359	1.292000	0.44672	0.594000	0.82650	GGA	PHF6	-	NULL	ENSG00000156531		0.358	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	HGNC	protein_coding	OTTHUMT00000058367.1	-	0	108	0	G	NM_032458		133547596	1	tier1	-	no_errors	ENST00000394292	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	133547596	G	T	133547596	3	4	89	1	0	0	0	0	1	0	0	0	11877	1174	41	3	515	3	PHF6	23	133547596	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	10747962	133547596	21722964	366	25732											
MAMLD1	10046	genome.wustl.edu	37	chrX	149638836	149638836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacccccagttggtctggtCtgcctcctccaggactctct	4	11	8	18	0	3	0	0	0	3	0	6	1	5	1	6	3	1	1	6	3	0	1			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:149638836C>G	ENST00000370401.2	+	4	1301	c.991C>G	c.(991-993)Ctg>Gtg	p.L331V	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L331V|MAMLD1_ENST00000426613.2_Missense_Mutation_p.L306V|MAMLD1_ENST00000432680.2_Missense_Mutation_p.L306V			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	331					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTCTGGTCTGCCTCCTCC	0.647																																																	0													104	62	77					X																	149638836		2203	4300	6503	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.991C>G	X.37:g.149638836C>G	ENSP00000359428:p.Leu331Val		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.L306V	ENST00000370401.2	37	c.916	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	9.883	1.202203	0.22121	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.71461	-0.14;-0.57;-0.14;-0.14	5.17	3.19	0.36642	.	0.157695	0.42821	D	0.000645	T	0.78123	0.4234	M	0.66939	2.045	0.24520	N	0.994169	P;P;P;D	0.71674	0.891;0.851;0.94;0.998	B;P;P;D	0.77557	0.367;0.546;0.546;0.99	T	0.66329	-0.5951	9	.	.	.	-21.1284	5.635	0.17532	0.4764:0.4119:0.0:0.1117	.	293;306;306;331	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	V	293;331;306;331;306	ENSP00000359428:L331V;ENSP00000414517:L306V;ENSP00000262858:L331V;ENSP00000397438:L306V	.	L	+	1	2	MAMLD1	149389494	0.969000	0.33509	0.006000	0.13384	0.141000	0.21300	2.294000	0.43567	0.980000	0.38523	0.529000	0.55759	CTG	MAMLD1	-	NULL	ENSG00000013619		0.647	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0	30	0	C	NM_005491		149638836	1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.136	G	G	149638836	C	G	149638836	3	3	89	1	0	0	0	0	1	0	0	0	9246	912	32	5	1001	5	MAMLD1	23	149638836	Missense_Mutation	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	16091240	149638836	5631724	367	25733											
MAGEA6	4105	genome.wustl.edu	37	chrX	151869922	151869922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacaggcttcctgataatCatcctggccataatcgcaaa	14	9	7	11	1	1	2	1	1	0	1	4	2	3	2	3	2	0	2	3	2	4	3			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:151869922C>T	ENST00000329342.5	+	3	837	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	204	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGATAATCATCCTGGCCA	0.547																																																	0													132	127	129					X																	151869922		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"MAGE-6 antigen", "melanoma-associated antigen 6", "melanoma antigen family A 6", "cancer/testis antigen family 1, member 6"	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.612C>T	X.37:g.151869922C>T			A8IF93|Q6NW44	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.I204	ENST00000329342.5	37	c.612	CCDS14708.1	X																																																																																			MAGEA6	-	pfam_MAGE,pfscan_MAGE	ENSG00000197172		0.547	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA6	HGNC	protein_coding	OTTHUMT00000058747.2	-	0	154	0	C	NM_005363		151869922	1	tier1	-	no_errors	ENST00000329342	ensembl	human	known	74_37	silent	15.97	121	23	SNP	0.000	T	T	151869922	C	T	151869922	2	4	89	1	0	0	0	0	0	0	0	1	9206	816	29	3		3	MAGEA6	23	151869922	Silent	SNP	C	TCGA-L5-A8NQ-01A-11D-A36J-09	2231086	151869922	3400638	368	25734											
HCFC1	3054	genome.wustl.edu	37	chrX	153221703	153221703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagcgtggtctgtgcggccGacacagtgatggcagtgggg	6	8	18	9	3	2	1	1	1	1	0	2	2	2	1	1	5	2	1	1	5	0	0			TCGA-L5-A8NQ-01A-11D-A36J-09	TCGA-L5-A8NQ-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	bedbcf17-d6e0-440f-9220-39b66b81492a	3e5cde29-49bf-4b79-89c3-ebe736c6c733	g.chrX:153221703G>A	ENST00000310441.7	-	16	3761	c.2795C>T	c.(2794-2796)tCg>tTg	p.S932L	HCFC1_ENST00000354233.3_Missense_Mutation_p.S863L|HCFC1_ENST00000369984.4_Missense_Mutation_p.S932L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	932					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTGCGGCCGACACAGTGAT	0.657																																																	0													104	112	109					X																	153221703		2203	4300	6503	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2795C>T	X.37:g.153221703G>A	ENSP00000309555:p.Ser932Leu		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.S932L	ENST00000310441.7	37	c.2795	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934655	0.92458	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04156	3.86;3.87;3.69	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	L	0.43152	1.355	0.49213	D	0.999768	D	0.69078	0.997	P	0.53006	0.715	T	0.01834	-1.1264	10	0.54805	T	0.06	.	16.6977	0.85340	0.0:0.0:1.0:0.0	.	932	P51610	HCFC1_HUMAN	L	932;932;863	ENSP00000309555:S932L;ENSP00000359001:S932L;ENSP00000346174:S863L	ENSP00000309555:S932L	S	-	2	0	HCFC1	152874897	1.000000	0.71417	0.402000	0.26371	0.691000	0.40173	8.916000	0.92745	2.201000	0.70794	0.529000	0.55759	TCG	HCFC1	-	NULL	ENSG00000172534		0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	-	0	73	0	G	NM_005334		153221703	-1	tier1	-	no_errors	ENST00000310441	ensembl	human	known	74_37	missense	21.84	68	19	SNP	1.000	A	A	153221703	G	A	153221703	3	1	89	1	0	0	0	0	1	0	0	0	7018	1059	37	1	3356	1	HCFC1	23	153221703	Missense_Mutation	SNP	G	TCGA-L5-A8NQ-01A-11D-A36J-09	1351781	153221703	2048857	369	25735											
TSSK3	81629	genome.wustl.edu	37	chr1	32829275	32829275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcatccaggtgtatgaGatgctggagtctgccgacgg	10	9	13	9	2	2	1	1	1	1	1	3	4	3	2	2	3	3	2	2	3	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:32829275G>T	ENST00000373534.3	+	2	730	c.225G>T	c.(223-225)gaG>gaT	p.E75D	FAM229A_ENST00000432622.1_5'Flank|FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				AGGTGTATGAGATGCTGGAGT	0.557																																																	0													82	87	85					1																	32829275		2203	4300	6503	SO:0001583	missense	0			AF296450	CCDS362.1	1p35-p34	2008-02-05	2005-03-10	2005-03-12	ENSG00000162526	ENSG00000162526			15473	protein-coding gene	gene with protein product		607660	"serine/threonine kinase 22C (spermiogenesis associated)"	STK22C		11597141	Standard	NM_052841		Approved	SPOGA3	uc001bvf.3	Q96PN8	OTTHUMG00000007585	ENST00000373534.3:c.225G>T	1.37:g.32829275G>T	ENSP00000362634:p.Glu75Asp		Q5TEE5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E75D	ENST00000373534.3	37	c.225	CCDS362.1	1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.388501	0.42308	.	.	ENSG00000162526	ENST00000373534	T	0.21734	1.99	5.42	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000004	T	0.19725	0.0474	L	0.31294	0.92	0.80722	D	1	P	0.35700	0.516	B	0.42214	0.38	T	0.04333	-1.0959	10	0.87932	D	0	.	9.4842	0.38919	0.1631:0.0:0.8369:0.0	.	75	Q96PN8	TSSK3_HUMAN	D	75	ENSP00000362634:E75D	ENSP00000362634:E75D	E	+	3	2	TSSK3	32601862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.271000	0.43364	1.427000	0.47276	0.655000	0.94253	GAG	TSSK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000162526		0.557	TSSK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK3	HGNC	protein_coding	OTTHUMT00000020049.1	-	0	36	0	G			32829275	1	tier1	-	no_errors	ENST00000373534	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	T	T	32829275	G	T	32829275	3	4	90	1	0	0	0	0	1	0	0	0	16718	933	33	3	231	3	TSSK3	1	32829275	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		32829275	216421346	1	25736											
MOBKL2C	148932	genome.wustl.edu	37	chr1	47078811	47078811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtccaccacgtgcacGgcgatccagtcgtcgatgtt	10	8	11	12	5	0	1	0	0	0	1	4	3	2	1	3	1	1	2	3	1	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:47078811G>A	ENST00000319928.3	-	2	413	c.183C>T	c.(181-183)gcC>gcT	p.A61A	MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Silent_p.A113A|MOB3C_ENST00000371940.1_Silent_p.A84A	NM_201403.2	NP_958805.1	Q70IA8	MOB3C_HUMAN	MOB kinase activator 3C	61							metal ion binding (GO:0046872)										CCACGTGCACGGCGATCCAGT	0.632																																																	0													110	77	88					1																	47078811		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091808	CCDS539.1, CCDS540.1	1p34.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000142961	ENSG00000142961		"MOB kinase activators"	29800	protein-coding gene	gene with protein product			"MOB1, Mps One Binder kinase activator-like 2C (yeast)"	MOBKL2C		12477932	Standard	NM_145279		Approved	MOB1E	uc001cqe.4	Q70IA8	OTTHUMG00000007989	ENST00000319928.3:c.183C>T	1.37:g.47078811G>A			D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.A113	ENST00000319928.3	37	c.339	CCDS540.1	1																																																																																			MOB3C	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000142961		0.632	MOB3C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3C	HGNC	protein_coding		-	0	72	0	G	NM_145279		47078811	-1	tier1	-	no_errors	ENST00000271139	ensembl	human	known	74_37	silent	26.23	45	16	SNP	0.005	A	A	47078811	G	A	47078811	2	1	90	1	0	0	0	0	0	0	0	1	9724	1103	39	1		1	MOBKL2C	1	47078811	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	14249536	47078811	202171810	2	25737											
C1orf83	127428	genome.wustl.edu	37	chr1	54520115	54520115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatggataaattcgtcattcGaacgcctagaatccagaata	16	10	7	8	3	1	2	1	0	0	2	4	4	2	3	2	1	1	0	2	1	8	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:54520115G>A	ENST00000234827.1	+	2	220	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	TMEM59_ENST00000371341.1_5'Flank|MIR4781_ENST00000585250.1_RNA|TMEM59_ENST00000371337.3_5'Flank|TCEANC2_ENST00000498272.1_3'UTR|TMEM59_ENST00000234831.5_5'Flank|TCEANC2_ENST00000371331.1_Missense_Mutation_p.R37Q	NM_153035.1	NP_694580.1	Q96MN5	TEAN2_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing 2	7					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|lung(3)|pancreas(1)	5						TTCGTCATTCGAACGCCTAGA	0.478																																																	0													76	67	70					1																	54520115		2203	4300	6503	SO:0001583	missense	0			AK056674	CCDS587.1	1p32.3	2011-01-25	2011-01-25	2011-01-25	ENSG00000116205	ENSG00000116205			26494	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 83"	C1orf83		12477932	Standard	NM_153035		Approved	FLJ32112	uc001cwt.1	Q96MN5	OTTHUMG00000008434	ENST00000234827.1:c.20G>A	1.37:g.54520115G>A	ENSP00000234827:p.Arg7Gln		Q5T702|Q8N8N2	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub	p.R37Q	ENST00000234827.1	37	c.110	CCDS587.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.474640	0.96291	.	.	ENSG00000116205	ENST00000234827;ENST00000371331	.	.	.	6.11	5.19	0.71726	.	0.056627	0.64402	D	0.000001	T	0.74450	0.3718	M	0.66939	2.045	0.54753	D	0.999981	D	0.89917	1.0	P	0.62298	0.9	T	0.77531	-0.2553	9	0.72032	D	0.01	-6.6379	13.3038	0.60340	0.0735:0.0:0.9265:0.0	.	7	Q96MN5	TEAN2_HUMAN	Q	7;37	.	ENSP00000234827:R7Q	R	+	2	0	TCEANC2	54292703	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.674000	0.74487	1.586000	0.49944	0.655000	0.94253	CGA	TCEANC2	-	NULL	ENSG00000116205		0.478	TCEANC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEANC2	HGNC	protein_coding	OTTHUMT00000023245.1	-	0	37	0	G	NM_153035		54520115	1	tier1	-	no_errors	ENST00000371331	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	A	A	54520115	G	A	54520115	3	1	90	1	0	0	0	0	1	0	0	0	2067	1058	37	1	22	1	C1orf83	1	54520115	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	7441304	54520115	194730506	3	25738											
USP24	23358	genome.wustl.edu	37	chr1	55560968	55560968	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtacaacgctgactcGacttttctttggtaatactg	8	14	8	11	3	1	1	0	1	1	0	2	2	1	1	1	1	4	3	1	1	4	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:55560968G>T	ENST00000294383.6	-	51	6162	c.6163C>A	c.(6163-6165)Cga>Aga	p.R2055R	USP24_ENST00000407756.1_Silent_p.R1895R	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2055					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACGCTGACTCGACTTTTCTTT	0.448																																																	0													84	84	84					1																	55560968		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6163C>A	1.37:g.55560968G>T			Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.R1895	ENST00000294383.6	37	c.5683	CCDS44154.2	1																																																																																			USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.448	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2		0	46	0	G			55560968	-1			no_errors	ENST00000407756	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	T	T	55560968	G	T	55560968	2	4	90	1	0	0	0	0	0	0	0	1	17104	1066	37	2		2	USP24	1	55560968	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1040853	55560968	193689653	4	25739											
LPHN2	23266	genome.wustl.edu	37	chr1	82372903	82372903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccccgatgccttcaaaaTtatgactcaaaggtaaatat	14	11	5	11	1	2	1	2	1	0	0	3	2	3	1	4	1	1	1	4	1	7	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:82372903T>G	ENST00000370728.1	+	6	920	c.275T>G	c.(274-276)aTt>aGt	p.I92S	LPHN2_ENST00000370717.2_Missense_Mutation_p.I92S|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.I92S|LPHN2_ENST00000271029.4_Missense_Mutation_p.I92S|LPHN2_ENST00000370713.1_Missense_Mutation_p.I92S|LPHN2_ENST00000335786.5_Missense_Mutation_p.I92S|LPHN2_ENST00000394879.1_Missense_Mutation_p.I92S|LPHN2_ENST00000370730.1_Missense_Mutation_p.I92S|LPHN2_ENST00000370723.1_Missense_Mutation_p.I92S|LPHN2_ENST00000370725.1_Missense_Mutation_p.I92S|LPHN2_ENST00000319517.6_Missense_Mutation_p.I92S|LPHN2_ENST00000370727.1_Missense_Mutation_p.I92S|LPHN2_ENST00000370715.1_Missense_Mutation_p.I92S|LPHN2_ENST00000370721.1_Missense_Mutation_p.I92S			O95490	LPHN2_HUMAN	latrophilin 2	92	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCCTTCAAAATTATGACTCAA	0.378																																																	0													131	122	125					1																	82372903		2203	4300	6503	SO:0001583	missense	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"-", "GPCR / Class B : Orphans"	18582	protein-coding gene	gene with protein product		607018	"latrophilin 1"	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.275T>G	1.37:g.82372903T>G	ENSP00000359763:p.Ile92Ser		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.I92S	ENST00000370728.1	37	c.275		1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522539	0.85600	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.996;0.999;1.0	T	0.04811	-1.0925	10	0.66056	D	0.02	.	15.8673	0.79074	0.0:0.0:0.0:1.0	.	92;92;92;92	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	S	92	ENSP00000359756:I92S;ENSP00000359763:I92S;ENSP00000359765:I92S;ENSP00000359762:I92S;ENSP00000359760:I92S;ENSP00000359758:I92S;ENSP00000353006:I92S;ENSP00000359750:I92S;ENSP00000359748:I92S;ENSP00000322270:I92S;ENSP00000359752:I92S;ENSP00000378344:I92S;ENSP00000271029:I92S;ENSP00000337306:I92S	ENSP00000271029:I92S	I	+	2	0	LPHN2	82145491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.903000	0.87398	2.208000	0.71279	0.455000	0.32223	ATT	LPHN2	-	pfam_Lectin_gal-bd_dom,prints_GPCR_2_latrophilin,pfscan_Lectin_gal-bd_dom	ENSG00000117114		0.378	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	-	0	45	0	T	NM_012302		82372903	1	tier1	-	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	G	G	82372903	T	G	82372903	3	3	90	1	0	0	0	0	1	0	0	0	8951	1493	52	4	281	4	LPHN2	1	82372903	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	26811935	82372903	166877718	5	25740											
CYR61	3491	genome.wustl.edu	37	chr1	86048536	86048536	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcggttcctgcgtggaCggccgatgctgcacgcccca	5	8	13	15	5	0	0	0	0	0	0	1	2	1	1	4	3	5	3	4	3	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:86048536C>T	ENST00000451137.2	+	5	1181	c.957C>T	c.(955-957)gaC>gaT	p.D319D		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	319	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		CCTGCGTGGACGGCCGATGCT	0.547											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													60	53	56					1																	86048536		2203	4300	6503	SO:0001819	synonymous_variant	0			AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.957C>T	1.37:g.86048536C>T		1241	O14934|O43775|Q9BZL7	Silent	SNP	pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D319	ENST00000451137.2	37	c.957	CCDS706.1	1																																																																																			CYR61	-	pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C	ENSG00000142871		0.547	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYR61	HGNC	protein_coding	OTTHUMT00000029187.1	-	0	64	0	C	NM_001554		86048536	1	tier1	-	no_errors	ENST00000451137	ensembl	human	known	74_37	silent	26.09	34	12	SNP	0.946	T	T	86048536	C	T	86048536	2	4	90	1	0	0	0	0	0	0	0	1	4208	535	19	1		1	CYR61	1	86048536	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3675633	86048536	163202085	6	25741											
BTBD8	284697	genome.wustl.edu	37	chr1	92573557	92573557	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacgttttaaagctcacAggtaaatagacacgactgat	17	9	8	7	2	1	2	1	1	0	1	1	4	1	2	0	1	2	3	0	1	7	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:92573557A>T	ENST00000342818.3	+	4	897	c.661A>T	c.(661-663)Agg>Tgg	p.R221W	BTBD8_ENST00000540648.1_Splice_Site_p.R221W|BTBD8_ENST00000370382.3_Splice_Site_p.R221W	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	221	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TAAAGCTCACAGGTAAATAGA	0.413																																																	0													164	162	163					1																	92573557		2203	4300	6503	SO:0001630	splice_region_variant	0			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.662+1A>T	1.37:g.92573557A>T			Q6V9S5	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R221W	ENST00000342818.3	37	c.661	CCDS737.1	1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.964227	0.74131	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.75477	-0.94;-0.94;-0.94	5.32	4.12	0.48240	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000008	D	0.88577	0.6474	H	0.97829	4.085	0.42605	D	0.993297	D	0.89917	1.0	D	0.97110	1.0	D	0.90875	0.4749	10	0.87932	D	0	-10.763	9.7609	0.40532	0.8266:0.1734:0.0:0.0	.	221	Q5XKL5	BTBD8_HUMAN	W	221	ENSP00000359408:R221W;ENSP00000343686:R221W;ENSP00000443397:R221W	ENSP00000343686:R221W	R	+	1	2	BTBD8	92346145	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.551000	0.53698	2.006000	0.58801	0.482000	0.46254	AGG	BTBD8	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000189195		0.413	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	HGNC	protein_coding	OTTHUMT00000028372.1	-	0	53	0	A	NM_183242	Missense_Mutation	92573557	1	tier1	-	no_errors	ENST00000342818	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	92573557	A	T	92573557	5	4	90	1	0	0	0	0	0	0	1	0	1551	202	7	5	675	5	BTBD8	1	92573557	Splice_Site	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	6525021	92573557	156677064	7	25742											
LPPR4	9890	genome.wustl.edu	37	chr1	99771527	99771527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttcagcaataccttgcCgcgagccaataccccatctg	10	9	6	16	2	2	0	1	0	1	0	2	1	2	0	6	0	6	1	6	0	5	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:99771527C>T	ENST00000370185.3	+	7	1750	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_ENST00000457765.1_Missense_Mutation_p.P360L|LPPR4_ENST00000370184.1_Missense_Mutation_p.P260L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		418					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATACCTTGCCGCGAGCCAAT	0.498																																																	0													55	56	56					1																	99771527		2203	4300	6503	SO:0001583	missense	0																														ENST00000370185.3:c.1253C>T	1.37:g.99771527C>T	ENSP00000359204:p.Pro418Leu		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.P418L	ENST00000370185.3	37	c.1253	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996051	0.54147	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.70869	0.15;-0.52;-0.34	5.71	5.71	0.89125	.	0.272209	0.42682	D	0.000671	T	0.80954	0.4723	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.987	T	0.78570	-0.2153	9	.	.	.	-20.7641	19.8478	0.96722	0.0:1.0:0.0:0.0	.	360;418	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	L	418;360;418;260	ENSP00000359204:P418L;ENSP00000394913:P360L;ENSP00000359203:P260L	.	P	+	2	0	RP4-788L13.1	99544115	1.000000	0.71417	0.950000	0.38849	0.185000	0.23345	7.212000	0.77941	2.685000	0.91497	0.650000	0.86243	CCG	LPPR4	-	NULL	ENSG00000117600		0.498	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_gn	protein_coding	OTTHUMT00000029670.2	-	0	32	0	C			99771527	1	tier1	-	no_errors	ENST00000370185	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	T	T	99771527	C	T	99771527	3	4	90	1	0	0	0	0	1	0	0	0	8962	652	23	1	1279	1	LPPR4	1	99771527	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	7197970	99771527	149479094	8	25743											
HIAT1	64645	genome.wustl.edu	37	chr1	100533698	100533698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcgttgcctgagaaaatgCggccagcatcctggggagca	10	7	14	10	2	0	1	0	1	0	1	2	3	1	2	3	3	4	3	3	3	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:100533698C>T	ENST00000370152.3	+	6	788	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	218					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGAGAAAATGCGGCCAGCATC	0.453																																																	0													157	150	152					1																	100533698		2203	4300	6503	SO:0001583	missense	0			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.652C>T	1.37:g.100533698C>T	ENSP00000359171:p.Arg218Trp		Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.R218W	ENST00000370152.3	37	c.652	CCDS763.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024407	0.75390	.	.	ENSG00000156875	ENST00000370152	T	0.80653	-1.4	5.72	2.46	0.29980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88687	0.6504	M	0.90814	3.15	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.90995	0.4838	10	0.87932	D	0	-42.2858	14.1091	0.65111	0.4932:0.5068:0.0:0.0	.	218	Q96MC6	HIAT1_HUMAN	W	218	ENSP00000359171:R218W	ENSP00000359171:R218W	R	+	1	2	HIAT1	100306286	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.446000	0.35090	0.713000	0.32060	0.655000	0.94253	CGG	HIAT1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000156875		0.453	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIAT1	HGNC	protein_coding	OTTHUMT00000029657.1	-	0	74	0	C	NM_033055		100533698	1	tier1	-	no_errors	ENST00000370152	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	100533698	C	T	100533698	3	4	90	1	0	0	0	0	1	0	0	0	7124	759	27	1	674	1	HIAT1	1	100533698	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	762171	100533698	148716923	9	25744											
COL11A1	1301	genome.wustl.edu	37	chr1	103345334	103345334	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgaagtgctttgtcataacTtcctgatgacacatcatacc	11	12	7	11	1	2	2	2	2	0	0	3	3	3	2	2	0	3	1	2	0	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:103345334T>G	ENST00000370096.3	-	66	5491	c.5179A>C	c.(5179-5181)Agt>Cgt	p.S1727R	COL11A1_ENST00000358392.2_Missense_Mutation_p.S1739R|COL11A1_ENST00000353414.4_Missense_Mutation_p.S1688R|COL11A1_ENST00000512756.1_Missense_Mutation_p.S1611R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1727	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTCATAACTTCCTGATGAC	0.443																																																	0													160	142	148					1																	103345334		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.5179A>C	1.37:g.103345334T>G	ENSP00000359114:p.Ser1727Arg		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.S1739R	ENST00000370096.3	37	c.5215	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.058513	0.76074	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.52	3.22	0.36961	Fibrillar collagen, C-terminal (4);	0.190142	0.56097	D	0.000025	T	0.63698	0.2533	M	0.85542	2.76	0.52099	D	0.999942	B;B;P;P;B	0.38335	0.049;0.126;0.573;0.627;0.039	B;B;B;B;B	0.36989	0.077;0.109;0.232;0.238;0.056	T	0.64719	-0.6341	10	0.48119	T	0.1	.	9.7059	0.40216	0.0:0.1405:0.0:0.8595	.	1611;1688;1739;1727;947	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	R	1727;1739;1688;947;1611	ENSP00000359114:S1727R;ENSP00000351163:S1739R;ENSP00000302551:S1688R;ENSP00000426533:S1611R	ENSP00000302551:S1688R	S	-	1	0	COL11A1	103117922	1.000000	0.71417	0.954000	0.39281	0.955000	0.61496	3.373000	0.52394	0.483000	0.27608	0.482000	0.46254	AGT	COL11A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C	ENSG00000060718		0.443	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	62	0	T	NM_080630		103345334	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	39.13	28	18	SNP	1.000	G	G	103345334	T	G	103345334	3	3	90	1	0	0	0	0	1	0	0	0	3674	1609	56	4	249	4	COL11A1	1	103345334	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	2811636	103345334	145905287	10	25745											
CYB561D1	284613	genome.wustl.edu	37	chr1	110038827	110038827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgtctatccagccctggtGatcatgcaccagatttccag	8	10	8	15	1	2	2	1	1	1	1	4	2	4	2	5	1	2	1	5	1	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:110038827G>A	ENST00000420578.2	+	3	676	c.636G>A	c.(634-636)gtG>gtA	p.V212V	CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000393709.3_Silent_p.V155V|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000369868.3_Silent_p.V234V|CYB561D1_ENST00000528785.1_Silent_p.V212V|CYB561D1_ENST00000533024.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	212	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCCCTGGTGATCATGCACC	0.537																																																	0													102	101	102					1																	110038827		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"Cytochrome b genes"	26804	protein-coding gene	gene with protein product			"cytochrome b-561 domain containing 1"			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.636G>A	1.37:g.110038827G>A			B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Silent	SNP	pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM	p.V234	ENST00000420578.2	37	c.702	CCDS800.1	1																																																																																			CYB561D1	-	pfscan_Cyt_b561/ferric_Rdtase_TM	ENSG00000174151		0.537	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYB561D1	HGNC	protein_coding	OTTHUMT00000030384.1	-	0	40	0	G	NM_182580		110038827	1	tier1	-	no_errors	ENST00000369868	ensembl	human	known	74_37	silent	27.27	24	9	SNP	1.000	A	A	110038827	G	A	110038827	2	1	90	1	0	0	0	0	0	0	0	1	4129	1277	45	3		3	CYB561D1	1	110038827	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	6693493	110038827	139211794	11	25746											
NOTCH2NL	388677	genome.wustl.edu	37	chr1	145273434	145273434	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tatgagtgcacctgtcaagtCgggtttacaggtaactaatg	11	12	11	7	1	1	1	1	1	0	0	2	1	1	1	1	2	3	3	1	2	5	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:145273434C>G	ENST00000369340.3	+	4	732	c.288C>G	c.(286-288)gtC>gtG	p.V96V	NOTCH2NL_ENST00000344859.3_Silent_p.V96V|NOTCH2NL_ENST00000362074.6_Silent_p.V96V|RP11-458D21.5_ENST00000468030.1_Silent_p.V96V			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	96	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V96V(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CCTGTCAAGTCGGGTTTACAG	0.463																																																	2	Substitution - coding silent(2)	large_intestine(2)											296	304	301					1																	145273434		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.288C>G	1.37:g.145273434C>G			Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	pfam_EG-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.V96	ENST00000369340.3	37	c.288	CCDS909.1	1																																																																																			RP11-458D21.5	-	pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000255168		0.463	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000255168	Clone_based_vega_gene	protein_coding	OTTHUMT00000038546.1	-	0	247	0	C	NM_203458		145273434	1	tier1	-	no_errors	ENST00000468030	ensembl	human	known	74_37	silent	7.98	196	17	SNP	0.314	G	G	145273434	C	G	145273434	2	3	90	1	0	0	0	0	0	0	0	1	10588	871	31	5		5	NOTCH2NL	1	145273434	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	35234607	145273434	103977187	12	25747											
OTUD7B	56957	genome.wustl.edu	37	chr1	149915980	149915980	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctataggaatcagccactcGgtaggggggtggtaacaagg	11	7	16	7	1	1	0	1	0	0	0	2	1	1	1	1	7	2	3	1	7	6	4	rs587752377		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:149915980G>A	ENST00000369135.4	-	12	2602	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	770					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCAGCCACTCGGTAGGGGGGT	0.602													G|||	1	0.000199681	8e-04	0	5008	,	,		16407	0		0	False		,,,				2504	0																0													39	42	41					1																	149915980		1918	4125	6043	SO:0001587	stop_gained	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.2308C>T	1.37:g.149915980G>A	ENSP00000358131:p.Arg770*		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Nonsense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.R770*	ENST00000369135.4	37	c.2308	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.709221	0.96821	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	.	.	.	4.75	3.83	0.44106	.	0.468479	0.23450	N	0.048048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2344	7.5659	0.27879	0.1911:0.0:0.8089:0.0	.	.	.	.	X	770	.	.	R	-	1	2	OTUD7B	148182604	0.113000	0.22115	0.469000	0.27204	0.469000	0.32828	0.820000	0.27323	1.353000	0.45828	0.557000	0.71058	CGA	OTUD7B	-	NULL	ENSG00000163113		0.602	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0	116	0	G	NM_020205		149915980	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	nonsense	37.88	41	25	SNP	0.383	A	A	149915980	G	A	149915980	4	1	90	1	0	0	0	0	0	1	0	0	11358	1124	39	1	227	1	OTUD7B	1	149915980	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	4642546	149915980	99334641	13	25748											
FAM63A	55793	genome.wustl.edu	37	chr1	150978592	150978592	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcacaaggagagggggaagGtttcgtgctttcattaaaag	12	10	13	6	1	2	1	2	0	0	1	3	3	2	2	0	4	1	2	0	4	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:150978592G>T	ENST00000361936.5	-	2	604				FAM63A_ENST00000361738.6_Missense_Mutation_p.P14T|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000470877.1_Intron|PRUNE_ENST00000368935.1_5'Flank|PRUNE_ENST00000368936.1_5'Flank|FAM63A_ENST00000493834.2_Intron|PRUNE_ENST00000271620.3_5'Flank|PRUNE_ENST00000368937.1_5'Flank|PRUNE_ENST00000271619.8_5'Flank	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGGGGAAGGTTTCGTGCTT	0.453																																																	0													167	154	158					1																	150978592		692	1591	2283	SO:0001627	intron_variant	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.350+195C>A	1.37:g.150978592G>T			B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.P14T	ENST00000361936.5	37	c.40	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477862	0.44044	.	.	ENSG00000143409	ENST00000361738	T	0.47869	0.83	3.82	-1.86	0.07760	.	.	.	.	.	T	0.11965	0.0291	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28396	-1.0045	8	0.72032	D	0.01	-0.8545	0.5906	0.00727	0.2047:0.1536:0.2975:0.3442	.	14	Q8N5J2-3	.	T	14	ENSP00000354669:P14T	ENSP00000354669:P14T	P	-	1	0	FAM63A	149245216	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.074000	0.11450	-0.527000	0.06374	-0.182000	0.12963	CCT	FAM63A	-	NULL	ENSG00000143409		0.453	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	-	0	47	0	G	NM_018379		150978592	-1	tier1	-	no_errors	ENST00000361738	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.000	T	T	150978592	G	T	150978592	1	4	90	0	1	0	0	0	0	0	0	0	5618	1261	44	3		3	FAM63A	1	150978592	Intron	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1062612	150978592	98272029	14	25749											
SNX27	81609	genome.wustl.edu	37	chr1	151665465	151665465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatggccttctgtttcgaaTatgcacgaggagagaagaag	12	9	14	6	2	1	2	0	0	1	2	2	7	1	4	1	3	1	2	1	3	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:151665465T>C	ENST00000458013.2	+	10	1588	c.1468T>C	c.(1468-1470)Tat>Cat	p.Y490H	SNX27_ENST00000368838.1_Missense_Mutation_p.Y397H|SNX27_ENST00000368843.3_Missense_Mutation_p.Y490H			Q96L92	SNX27_HUMAN	sorting nexin family member 27	490	FERM-like region F3.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTTTCGAATATGCACGAGG	0.448																																					Colon(46;291 966 40145 41237 41888)												0													143	141	142					1																	151665465		2203	4300	6503	SO:0001583	missense	0			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"Sorting nexins"	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1468T>C	1.37:g.151665465T>C	ENSP00000400333:p.Tyr490His		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.Y490H	ENST00000458013.2	37	c.1468		1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.949165	0.92660	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	D;D;D	0.95482	-3.72;-3.72;-3.72	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.96962	0.9008	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.97771	1.0226	10	0.87932	D	0	.	13.4773	0.61316	0.0:0.0:0.0:1.0	.	490;490	Q96L92;Q96L92-3	SNX27_HUMAN;.	H	490;490;397	ENSP00000400333:Y490H;ENSP00000357836:Y490H;ENSP00000357831:Y397H	ENSP00000357831:Y397H	Y	+	1	0	SNX27	149932089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.272000	0.78516	2.201000	0.70794	0.460000	0.39030	TAT	SNX27	-	NULL	ENSG00000143376		0.448	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	-	0	81	0	T	NM_030918		151665465	1	tier1	-	no_errors	ENST00000368843	ensembl	human	known	74_37	missense	18.60	70	16	SNP	1.000	C	C	151665465	T	C	151665465	3	2	90	1	0	0	0	0	1	0	0	0	14942	1406	49	4	1506	4	SNX27	1	151665465	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	686873	151665465	97585156	15	25750											
TCHH	7062	genome.wustl.edu	37	chr1	152084429	152084429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcgcctcagctgctgctCgcgcctcagctgctgctcgc	2	9	11	19	5	2	0	2	0	0	0	5	0	2	0	2	0	6	6	2	0	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:152084429C>T	ENST00000368804.1	-	2	1263	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	422	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTGCTCGCGCCTCAgc	0.711																																																	0													12	14	14					1																	152084429		1912	4098	6010	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1264G>A	1.37:g.152084429C>T	ENSP00000357794:p.Glu422Lys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.E422K	ENST00000368804.1	37	c.1264	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	12.20	1.866790	0.32977	.	.	ENSG00000159450	ENST00000368804	T	0.06142	3.34	3.43	3.43	0.39272	.	.	.	.	.	T	0.00845	0.0028	N	0.08118	0	0.28044	N	0.933627	P	0.51147	0.942	B	0.39617	0.305	T	0.17806	-1.0357	9	0.05721	T	0.95	.	8.688	0.34249	0.0:0.7645:0.2355:0.0	.	422	Q07283	TRHY_HUMAN	K	422	ENSP00000357794:E422K	ENSP00000357794:E422K	E	-	1	0	TCHH	150351053	0.011000	0.17503	0.114000	0.21550	0.015000	0.08874	1.437000	0.34991	1.792000	0.52537	0.496000	0.49642	GAG	TCHH	-	NULL	ENSG00000159450		0.711	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	120	0	C	NM_007113		152084429	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	18.81	82	19	SNP	0.857	T	T	152084429	C	T	152084429	3	4	90	1	0	0	0	0	1	0	0	0	15747	893	31	1	4571	1	TCHH	1	152084429	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	418964	152084429	97166192	16	25751											
FLG	2312	genome.wustl.edu	37	chr1	152280658	152280658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatccccggggcctgcttGtcctgggccctgatgattgt	3	12	14	12	1	0	2	0	2	0	0	2	3	2	3	5	4	1	1	5	4	0	2	rs200713352		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:152280658G>A	ENST00000368799.1	-	3	6739	c.6704C>T	c.(6703-6705)aCa>aTa	p.T2235I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2235	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGCCTGCTTGTCCTGGGCCC	0.582									Ichthyosis																																								0													214	215	214					1																	152280658		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6704C>T	1.37:g.152280658G>A	ENSP00000357789:p.Thr2235Ile		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.T2235I	ENST00000368799.1	37	c.6704	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	4.267	0.048550	0.08243	.	.	ENSG00000143631	ENST00000368799	T	0.04654	3.58	3.41	0.301	0.15781	.	.	.	.	.	T	0.01765	0.0056	M	0.75447	2.3	0.09310	N	1	B	0.33413	0.411	B	0.28991	0.097	T	0.43097	-0.9412	9	0.38643	T	0.18	.	2.4051	0.04411	0.1129:0.1855:0.511:0.1906	.	2235	P20930	FILA_HUMAN	I	2235	ENSP00000357789:T2235I	ENSP00000357789:T2235I	T	-	2	0	FLG	150547282	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.854000	0.01664	-0.036000	0.13669	-1.307000	0.01316	ACA	FLG	-	pfam_Filaggrin	ENSG00000143631		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	144	0	G	NM_002016		152280658	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	49.62	66	65	SNP	0.000	A	A	152280658	G	A	152280658	3	1	90	1	0	0	0	0	1	0	0	0	5944	1377	48	3	5485	3	FLG	1	152280658	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	196229	152280658	96969963	17	25752											
PGLYRP4	57115	genome.wustl.edu	37	chr1	153317650	153317650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacccagctcttacttgtaGgccacatcacacccactgtt	10	10	6	15	0	2	1	1	0	1	1	2	1	2	1	3	1	2	3	3	1	2	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:153317650G>A	ENST00000359650.5	-	4	412	c.348C>T	c.(346-348)gcC>gcT	p.A116A	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Silent_p.A112A	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	116					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTACTTGTAGGCCACATCAC	0.557																																																	0													91	95	94					1																	153317650		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"peptidoglycan recognition protein I beta precursor"	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.348C>T	1.37:g.153317650G>A			A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Silent	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.A116	ENST00000359650.5	37	c.348	CCDS30871.1	1																																																																																			PGLYRP4	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	ENSG00000163218		0.557	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGLYRP4	HGNC	protein_coding	OTTHUMT00000089978.1	-	0	70	0	G	NM_020393		153317650	-1	tier1	-	no_errors	ENST00000359650	ensembl	human	known	74_37	silent	23.81	48	15	SNP	0.999	A	A	153317650	G	A	153317650	2	1	90	1	0	0	0	0	0	0	0	1	11835	987	35	3		3	PGLYRP4	1	153317650	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1036992	153317650	95932971	18	25753											
UBQLN4	56893	genome.wustl.edu	37	chr1	156018405	156018405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggcccggtcctggttccGcatcatctcttgcatcatgg	5	11	11	14	2	3	0	2	0	1	0	6	0	5	0	3	4	1	3	3	4	0	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:156018405G>A	ENST00000368309.3	-	5	879	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	UBQLN4_ENST00000472638.1_5'UTR	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	263					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TCCTGGTTCCGCATCATCTCT	0.577																																																	0													80	73	75					1																	156018405		2203	4300	6503	SO:0001583	missense	0			BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"Ubiquilin family"	1237	protein-coding gene	gene with protein product	"ataxin-1 ubiquitin-like interacting protein"	605440	"chromosome 1 open reading frame 6"	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.787C>T	1.37:g.156018405G>A	ENSP00000357292:p.Arg263Trp		A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.R263W	ENST00000368309.3	37	c.787	CCDS1127.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970903	0.74246	.	.	ENSG00000160803	ENST00000368309	T	0.37058	1.22	4.35	4.35	0.52113	.	0.058765	0.64402	D	0.000002	T	0.48390	0.1497	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.52711	-0.8539	10	0.87932	D	0	-9.4964	10.9615	0.47387	0.0:0.0:0.8131:0.1869	.	243;263	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	W	263	ENSP00000357292:R263W	ENSP00000357292:R263W	R	-	1	2	UBQLN4	154285029	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.536000	0.45693	2.256000	0.74724	0.561000	0.74099	CGG	UBQLN4	-	superfamily_ARM-type_fold	ENSG00000160803		0.577	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN4	HGNC	protein_coding	OTTHUMT00000046193.1	-	0	86	0	G	NM_020131		156018405	-1	tier1	-	no_errors	ENST00000368309	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	A	A	156018405	G	A	156018405	3	1	90	1	0	0	0	0	1	0	0	0	16948	1086	38	1	1046	1	UBQLN4	1	156018405	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2700755	156018405	93232216	19	25754											
RAB25	57111	genome.wustl.edu	37	chr1	156035800	156035800	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaccaccatcggggttGagttctccacccgcactgtg	6	8	11	16	3	1	1	0	1	1	0	3	1	1	1	5	2	0	4	5	2	0	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:156035800G>T	ENST00000361084.5	+	2	383	c.142G>T	c.(142-144)Gag>Tag	p.E48*	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	48					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.E52Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CATCGGGGTTGAGTTCTCCAC	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											63	68	67					1																	156035800		2157	4274	6431	SO:0001587	stop_gained	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.142G>T	1.37:g.156035800G>T	ENSP00000354376:p.Glu48*		Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E48*	ENST00000361084.5	37	c.142	CCDS41413.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.352753	0.97498	.	.	ENSG00000132698	ENST00000361084	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0139	0.89232	0.0:0.0:1.0:0.0	.	.	.	.	X	48	.	ENSP00000354376:E48X	E	+	1	0	RAB25	154302424	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	9.525000	0.98039	2.828000	0.97474	0.655000	0.94253	GAG	RAB25	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132698		0.607	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	HGNC	protein_coding	OTTHUMT00000046185.1		0	63	0	G			156035800	1			no_errors	ENST00000361084	ensembl	human	known	74_37	nonsense	6.52	43	3	SNP	1.000	T	T	156035800	G	T	156035800	4	4	90	1	0	0	0	0	0	1	0	0	12957	1291	45	3	148	3	RAB25	1	156035800	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	17395	156035800	93214821	20	25755											
FCRL4	83417	genome.wustl.edu	37	chr1	157559110	157559110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcagggtcaacttttctCcccagtagtgccgatgatac	8	11	11	11	1	3	1	2	1	1	0	4	2	3	1	3	2	3	1	3	2	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:157559110C>A	ENST00000271532.1	-	3	326	c.191G>T	c.(190-192)gGa>gTa	p.G64V	FCRL4_ENST00000448509.2_5'Flank	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	64	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CAACTTTTCTCCCCAGTAGTG	0.522																																																	0													108	93	98					1																	157559110		2203	4300	6503	SO:0001583	missense	0			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.191G>T	1.37:g.157559110C>A	ENSP00000271532:p.Gly64Val		Q96PJ3|Q96RE0	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G64V	ENST00000271532.1	37	c.191	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	C	9.054	0.992701	0.18966	.	.	ENSG00000163518	ENST00000271532	T	0.62788	0.0	4.2	-7.08	0.01558	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.292790	0.05964	N	0.641146	T	0.40909	0.1136	M	0.85041	2.73	0.09310	N	1	B	0.29671	0.254	B	0.36186	0.219	T	0.48670	-0.9015	10	0.28530	T	0.3	.	3.9893	0.09530	0.2538:0.2273:0.0:0.5189	.	64	Q96PJ5	FCRL4_HUMAN	V	64	ENSP00000271532:G64V	ENSP00000271532:G64V	G	-	2	0	FCRL4	155825734	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.051000	0.00628	-0.852000	0.04141	-0.455000	0.05494	GGA	FCRL4	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000163518		0.522	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	-	0	135	0	C	NM_031282		157559110	-1	tier1	-	no_errors	ENST00000271532	ensembl	human	known	74_37	missense	21.10	86	23	SNP	0.000	A	A	157559110	C	A	157559110	3	1	90	1	0	0	0	0	1	0	0	0	5819	855	30	3	1396	3	FCRL4	1	157559110	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	1523310	157559110	91691511	21	25756											
SH2D1B	117157	genome.wustl.edu	37	chr1	162368751	162368751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttcaatcctctccatcTcaagctggggctggttctct	7	15	7	12	0	4	0	2	0	3	0	8	0	5	0	2	3	1	3	2	3	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:162368751T>C	ENST00000367929.2	-	3	434	c.325A>G	c.(325-327)Aga>Gga	p.R109G	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	109					leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CCTCTCCATCTCAAGCTGGGG	0.413																																																	0													87	82	84					1																	162368751		2203	4300	6503	SO:0001583	missense	0			AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"SH2 domain containing"	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.325A>G	1.37:g.162368751T>C	ENSP00000356906:p.Arg109Gly		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R109G	ENST00000367929.2	37	c.325	CCDS30928.1	1	.	.	.	.	.	.	.	.	.	.	T	9.617	1.132826	0.21041	.	.	ENSG00000198574	ENST00000367929	D	0.81996	-1.56	4.66	-2.55	0.06288	.	2.413830	0.01380	N	0.012905	T	0.54255	0.1847	L	0.44542	1.39	0.23003	N	0.99845	B	0.06786	0.001	B	0.06405	0.002	T	0.36672	-0.9738	9	0.20046	T	0.44	-39.2905	5.5227	0.16941	0.0:0.185:0.4701:0.3449	.	109	O14796	SH21B_HUMAN	G	109	ENSP00000356906:R109G	ENSP00000356906:R109G	R	-	1	2	SH2D1B	160635375	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.025000	0.12413	-0.686000	0.05170	-0.313000	0.08912	AGA	SH2D1B	-	NULL	ENSG00000198574		0.413	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D1B	HGNC	protein_coding	OTTHUMT00000076794.1	-	0	81	0	T	NM_053282		162368751	-1	tier1	-	no_errors	ENST00000367929	ensembl	human	known	74_37	missense	5.80	64	4	SNP	0.000	C	C	162368751	T	C	162368751	3	2	90	1	0	0	0	0	1	0	0	0	14276	1559	54	4	81	4	SH2D1B	1	162368751	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	4809641	162368751	86881870	22	25757											
FAM5B	57795	genome.wustl.edu	37	chr1	177250517	177250517	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctttctccacctggcaaAgtccgacttgaccttttctc	7	13	6	15	1	2	1	0	1	2	0	5	2	3	1	4	1	1	2	4	1	1	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:177250517A>G	ENST00000361539.4	+	8	2517	c.2205A>G	c.(2203-2205)aaA>aaG	p.K735K	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	735					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CACCTGGCAAAGTCCGACTTG	0.542																																																	0													95	86	89					1																	177250517		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"family with sequence similarity 5, member B"	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2205A>G	1.37:g.177250517A>G			O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	pfam_MACPF,smart_MACPF	p.K735	ENST00000361539.4	37	c.2205	CCDS1320.1	1																																																																																			BRINP2	-	NULL	ENSG00000198797		0.542	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP2	HGNC	protein_coding	OTTHUMT00000084599.1	-	0	50	0	A	NM_021165		177250517	1	tier1	-	no_errors	ENST00000361539	ensembl	human	known	74_37	silent	48.15	28	26	SNP	1.000	G	G	177250517	A	G	177250517	2	3	90	1	0	0	0	0	0	0	0	1	5615	69	3	4		4	FAM5B	1	177250517	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	14881766	177250517	72000104	23	25758											
NAV1	89796	genome.wustl.edu	37	chr1	201618308	201618308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcccaacctgggaaagcCgagccggatccctcgaggac	9	3	13	16	5	0	0	0	0	0	0	2	5	1	3	5	3	3	0	5	3	2	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:201618308C>T	ENST00000367296.4	+	1	932	c.512C>T	c.(511-513)cCg>cTg	p.P171L	NAV1_ENST00000367300.3_Missense_Mutation_p.P171L|NAV1_ENST00000367302.1_Missense_Mutation_p.P184L|NAV1_ENST00000295624.6_Missense_Mutation_p.P171L|NAV1_ENST00000367297.4_Missense_Mutation_p.P171L	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	171					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTGGGAAAGCCGAGCCGGATC	0.687																																																	0													16	21	20					1																	201618308		2192	4297	6489	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.512C>T	1.37:g.201618308C>T	ENSP00000356265:p.Pro171Leu		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P171L	ENST00000367296.4	37	c.512	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219444	0.79464	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	4.74	4.74	0.60224	.	0.071450	0.56097	D	0.000024	T	0.53610	0.1807	L	0.47716	1.5	0.58432	D	0.999995	D	0.67145	0.996	P	0.57548	0.823	T	0.58115	-0.7693	10	0.66056	D	0.02	-23.1116	17.3345	0.87276	0.0:1.0:0.0:0.0	.	171	Q8NEY1-3	.	L	184;171;171;171;171	ENSP00000356271:P184L;ENSP00000356265:P171L;ENSP00000295624:P171L;ENSP00000356266:P171L;ENSP00000356269:P171L	ENSP00000295624:P171L	P	+	2	0	NAV1	199884931	0.748000	0.28294	0.998000	0.56505	0.875000	0.50365	1.348000	0.33987	2.180000	0.69256	0.313000	0.20887	CCG	NAV1	-	NULL	ENSG00000134369		0.687	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0	55	0	C	NM_020443		201618308	1	tier1	-	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	55.56	12	15	SNP	1.000	T	T	201618308	C	T	201618308	3	4	90	1	0	0	0	0	1	0	0	0	10221	652	23	1	514	1	NAV1	1	201618308	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	24367791	201618308	47632313	24	25759											
SLC45A3	85414	genome.wustl.edu	37	chr1	205628416	205628416	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatactacctgtgtagcaaaGtaaatggcgaccagacccag	15	7	9	10	1	0	1	0	0	0	1	0	2	0	1	3	1	3	3	3	1	7	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:205628416G>T	ENST00000367145.3	-	5	1903	c.1608C>A	c.(1606-1608)taC>taA	p.Y536*	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	536					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGTAGCAAAGTAAATGGCGA	0.552			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		1	1q32	85414	"solute carrier family 45, member 3"		E	0													76	76	76					1																	205628416		2203	4300	6503	SO:0001587	stop_gained	0			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"Solute carriers"	8642	protein-coding gene	gene with protein product		605097	"prostate cancer associated protein 6", "prostate cancer associated protein 2", "prostate cancer associated protein 8"	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1608C>A	1.37:g.205628416G>T	ENSP00000356113:p.Tyr536*	2153	A8K2U9	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.Y536*	ENST00000367145.3	37	c.1608	CCDS1458.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.390623	0.98791	.	.	ENSG00000158715	ENST00000367145	.	.	.	5.66	3.5	0.40072	.	0.060856	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9183	10.7786	0.46365	0.2173:0.0:0.7827:0.0	.	.	.	.	X	536	.	ENSP00000356113:Y536X	Y	-	3	2	SLC45A3	203895039	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.418000	0.52721	1.335000	0.45486	0.591000	0.81541	TAC	SLC45A3	-	NULL	ENSG00000158715		0.552	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A3	HGNC	protein_coding	OTTHUMT00000090619.1	-	0	55	0	G	NM_033102		205628416	-1	tier1	-	no_errors	ENST00000367145	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	205628416	G	T	205628416	4	4	90	1	0	0	0	0	0	1	0	0	14687	1024	36	3	57	3	SLC45A3	1	205628416	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	4010108	205628416	43622205	25	25760											
IL19	29949	genome.wustl.edu	37	chr1	206972299	206972299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttaccactcacacatgtGcacacacatatccatgtgtg	11	11	5	14	0	1	0	1	0	0	0	3	0	3	0	3	0	2	1	3	0	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:206972299G>A	ENST00000340758.2	+	1	85	c.60G>A	c.(58-60)gtG>gtA	p.V20V		NM_153758.2	NP_715639.1	Q9UHD0	IL19_HUMAN	interleukin 19	0					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCACACATGTGCACACACATA	0.527																																																	0													181	147	159					1																	206972299		2203	4300	6503	SO:0001819	synonymous_variant	0			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"Interleukins and interleukin receptors"	5990	protein-coding gene	gene with protein product	"melanoma differentiation associated protein-like protein"	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000340758.2:c.60G>A	1.37:g.206972299G>A			B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,prints_IL-19,prints_IL-24	p.V20	ENST00000340758.2	37	c.60	CCDS1468.1	1																																																																																			IL19	-	NULL	ENSG00000142224		0.527	IL19-001	KNOWN	basic|CCDS	protein_coding	IL19	HGNC	protein_coding	OTTHUMT00000088566.3	-	0	64	0	G	NM_153758		206972299	1	tier1	-	no_errors	ENST00000340758	ensembl	human	known	74_37	silent	50.98	25	26	SNP	0.000	A	A	206972299	G	A	206972299	2	1	90	1	0	0	0	0	0	0	0	1	7676	1306	46	3		3	IL19	1	206972299	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1343883	206972299	42278322	26	25761											
OBSCN	84033	genome.wustl.edu	37	chr1	228468108	228468108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcatagtacgcgcctcctCcctgaaggtgtcgacctctg	6	9	12	14	3	1	1	0	1	1	0	4	2	3	1	4	2	1	2	4	2	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:228468108C>T	ENST00000422127.1	+	29	7936	c.7892C>T	c.(7891-7893)tCc>tTc	p.S2631F	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2631F|OBSCN_ENST00000570156.2_Missense_Mutation_p.S3060F|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.S1478F	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2631	Ig-like 25.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCGCCTCCTCCCTGAAGGTG	0.627																																																	0													33	37	36					1																	228468108		2110	4207	6317	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.7892C>T	1.37:g.228468108C>T	ENSP00000409493:p.Ser2631Phe		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S2631F	ENST00000422127.1	37	c.7892	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	c	9.052	0.992325	0.18966	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.39229	1.09;1.09;1.09	5.3	5.3	0.74995	Immunoglobulin-like fold (1);	0.167336	0.42294	D	0.000730	T	0.58623	0.2135	L	0.60455	1.87	0.37480	D	0.915943	D;D;D	0.76494	0.999;0.993;0.999	D;P;D	0.71184	0.972;0.906;0.966	T	0.63220	-0.6686	10	0.49607	T	0.09	.	13.3023	0.60332	0.0:0.9238:0.0:0.0762	.	2631;2631;2631	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	F	2631;2631;1478;330;37	ENSP00000284548:S2631F;ENSP00000409493:S2631F;ENSP00000352613:S1478F	ENSP00000284548:S2631F	S	+	2	0	OBSCN	226534731	0.988000	0.35896	0.049000	0.19019	0.004000	0.04260	3.262000	0.51538	2.484000	0.83849	0.550000	0.68814	TCC	OBSCN	-	smart_Ig_sub	ENSG00000154358		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	63	0	C	NM_052843		228468108	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.032	T	T	228468108	C	T	228468108	3	4	90	1	0	0	0	0	1	0	0	0	10851	855	30	3	8002	3	OBSCN	1	228468108	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	21495809	228468108	20782513	27	25762											
OBSCN	84033	genome.wustl.edu	37	chr1	228509131	228509131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactgggagacctgagCaccaaagacctgggtgatcc	11	5	11	14	0	0	4	0	2	0	2	1	5	1	4	6	2	1	1	6	2	1	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:228509131C>A	ENST00000422127.1	+	55	14633	c.14589C>A	c.(14587-14589)agC>agA	p.S4863R	OBSCN_ENST00000366707.4_Missense_Mutation_p.S2497R|OBSCN_ENST00000284548.11_Missense_Mutation_p.S4863R|OBSCN_ENST00000570156.2_Missense_Mutation_p.S5820R|OBSCN_ENST00000366709.4_Missense_Mutation_p.S1982R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4863					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGACCTGAGCACCAAAGACC	0.612																																																	0													25	28	27					1																	228509131		2010	4168	6178	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14589C>A	1.37:g.228509131C>A	ENSP00000409493:p.Ser4863Arg		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.S4863R	ENST00000422127.1	37	c.14589	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500694	0.44455	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.62105	0.46;0.05;0.09;0.61	5.1	-7.27	0.01461	.	1.638850	0.03167	N	0.170105	T	0.35913	0.0948	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.10450	0.002;0.005	T	0.32052	-0.9921	10	0.14252	T	0.57	.	12.2473	0.54578	0.0:0.6654:0.1288:0.2058	.	4863;4863	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	4863;4863;2497;1982	ENSP00000284548:S4863R;ENSP00000409493:S4863R;ENSP00000355668:S2497R;ENSP00000355670:S1982R	ENSP00000284548:S4863R	S	+	3	2	OBSCN	226575754	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-2.734000	0.00803	-1.274000	0.02421	-0.471000	0.05019	AGC	OBSCN	-	NULL	ENSG00000154358		0.612	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	46	0	C	NM_052843		228509131	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.001	A	A	228509131	C	A	228509131	3	1	90	1	0	0	0	0	1	0	0	0	10851	709	25	3	14803	3	OBSCN	1	228509131	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	41023	228509131	20741490	28	25763											
TRIM67	440730	genome.wustl.edu	37	chr1	231335944	231335944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagctgcgtcagtccacCggactgatggagtactgcct	8	10	12	11	2	1	2	1	2	0	0	2	4	2	4	3	2	4	2	3	2	2	2	rs370010177		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:231335944C>T	ENST00000366653.5	+	4	1314	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	TRIM67_ENST00000449018.3_Silent_p.T376T|TRIM67_ENST00000366652.2_Silent_p.T438T|TRIM67_ENST00000444294.3_Silent_p.T438T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	438					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTCAGTCCACCGGACTGATGG	0.522																																																	0								T		0,4026		0,0,2013	154	155	155		1314	-10.6	0.1	1		155	1,8351		0,1,4175	no	coding-synonymous	TRIM67	NM_001004342.3		0,1,6188	TT,TC,CC		0.012,0.0,0.0081		438/784	231335944	1,12377	2013	4176	6189	SO:0001819	synonymous_variant	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1314C>T	1.37:g.231335944C>T			Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.T438	ENST00000366653.5	37	c.1314	CCDS44333.1	1																																																																																			TRIM67	-	smart_Bbox_C	ENSG00000119283		0.522	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	-	0	43	0	C	NM_001004342		231335944	1	tier1	-	no_errors	ENST00000366652	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.050	T	T	231335944	C	T	231335944	2	4	90	1	0	0	0	0	0	0	0	1	16588	639	23	1		1	TRIM67	1	231335944	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2826813	231335944	17914677	29	25764											
TOMM20	9804	genome.wustl.edu	37	chr1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggtcacttcgtcttttgCggtcgaagtagatgcagtac	7	13	13	8	3	2	1	1	0	1	1	4	2	2	1	0	3	3	3	0	3	3	5	rs1130507		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:235291954C>T	ENST00000366607.4	-	1	297	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_ENST00000384452.1_RNA	NM_014765.2	NP_055580.1	Q15388	TOM20_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)	26					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)|unfolded protein binding (GO:0051082)			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597																																																	0													138	127	131					1																	235291954		2203	4300	6503	SO:0001583	missense	0				CCDS1603.1	1q42	2008-07-18			ENSG00000173726	ENSG00000173726			20947	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type II"	601848				7498524, 7589431, 15733919	Standard	NM_014765		Approved	KIAA0016, TOM20, MOM19, MAS20	uc001hwl.3	Q15388	OTTHUMG00000039619	ENST00000366607.4:c.77G>A	1.37:g.235291954C>T	ENSP00000355566:p.Arg26His		A8K195|Q498B3|Q6IBT4	Missense_Mutation	SNP	pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related	p.R26H	ENST00000366607.4	37	c.77	CCDS1603.1	1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559898	0.27827	.	.	ENSG00000173726	ENST00000366607	T	0.46451	0.87	4.95	2.01	0.26516	.	0.052748	0.64402	D	0.000001	T	0.29749	0.0743	L	0.45285	1.41	0.58432	D	0.999999	B	0.21071	0.051	B	0.19391	0.025	T	0.05699	-1.0869	10	0.24483	T	0.36	-0.4404	6.8598	0.24060	0.1329:0.6698:0.1279:0.0695	rs1130507;rs3189427	26	Q15388	TOM20_HUMAN	H	26	ENSP00000355566:R26H	ENSP00000355566:R26H	R	-	2	0	TOMM20	233358577	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	7.097000	0.76967	0.359000	0.24239	-0.304000	0.09214	CGC	TOMM20	-	pfam_MAS20_rcpt-related,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt-related,tigrfam_MAS20_rcpt-related	ENSG00000173726		0.597	TOMM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM20	HGNC	protein_coding	OTTHUMT00000095551.1	-	0	50	0	C	NM_014765		235291954	-1	tier1	rs1130507	no_errors	ENST00000366607	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	235291954	C	T	235291954	3	4	90	1	0	0	0	0	1	0	0	0	16401	768	27	1	380	1	TOMM20	1	235291954	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3956010	235291954	13958667	30	25765											
ACTN2	88	genome.wustl.edu	37	chr1	236917335	236917335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtctgaggcgccagtttgCtgcccaagccaatgccattg	7	9	12	13	2	1	1	0	1	1	0	1	1	1	1	4	1	4	2	4	1	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr1:236917335C>A	ENST00000366578.4	+	16	2094	c.1928C>A	c.(1927-1929)gCt>gAt	p.A643D	ACTN2_ENST00000542672.1_Missense_Mutation_p.A643D|ACTN2_ENST00000546208.1_Missense_Mutation_p.A137D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	643					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCCAGTTTGCTGCCCAAGCC	0.602																																																	0													50	52	52					1																	236917335		2203	4300	6503	SO:0001583	missense	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1928C>A	1.37:g.236917335C>A	ENSP00000355537:p.Ala643Asp		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A643D	ENST00000366578.4	37	c.1928	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	c	32	5.188733	0.94923	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.52754	0.65;0.65;0.65	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.74581	0.3735	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	T	0.79366	-0.1833	10	0.87932	D	0	.	19.2097	0.93748	0.0:1.0:0.0:0.0	.	428;643;413;643	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	D	643;643;137;412	ENSP00000443495:A643D;ENSP00000355537:A643D;ENSP00000438384:A137D	ENSP00000355537:A643D	A	+	2	0	ACTN2	234983958	1.000000	0.71417	0.976000	0.42696	0.948000	0.59901	7.727000	0.84838	2.535000	0.85469	0.645000	0.84053	GCT	ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.602	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0	44	0	C	NM_001103		236917335	1	tier1	-	no_errors	ENST00000366578	ensembl	human	known	74_37	missense	52.94	24	27	SNP	1.000	A	A	236917335	C	A	236917335	3	1	90	1	0	0	0	0	1	0	0	0	205	797	28	3	1990	3	ACTN2	1	236917335	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	1625381	236917335	12333286	31	25766											
PXDN	7837	genome.wustl.edu	37	chr2	1652938	1652938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacatgcagcgggcccCgctcctggcccgggagtcat	8	5	14	14	3	1	1	1	0	0	1	2	3	2	2	4	3	3	2	4	3	2	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:1652938C>T	ENST00000252804.4	-	17	2664	c.2614G>A	c.(2614-2616)Ggg>Agg	p.G872R		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	872					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGCGGGCCCCGCTCCTGGCC	0.647																																																	0													16	19	18					2																	1652938		2112	4202	6314	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"Immunoglobulin superfamily / I-set domain containing"	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2614G>A	2.37:g.1652938C>T	ENSP00000252804:p.Gly872Arg		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.G872R	ENST00000252804.4	37	c.2614	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483222	0.44147	.	.	ENSG00000130508	ENST00000252804	T	0.75050	-0.9	5.36	5.36	0.76844	.	0.249218	0.41712	D	0.000837	T	0.63295	0.2499	L	0.31371	0.925	0.52501	D	0.999958	B	0.06786	0.001	B	0.15484	0.013	T	0.58589	-0.7610	10	0.39692	T	0.17	-40.6257	12.8228	0.57702	0.0:0.9249:0.0:0.0751	.	872	Q92626	PXDN_HUMAN	R	872	ENSP00000252804:G872R	ENSP00000252804:G872R	G	-	1	0	PXDN	1631945	1.000000	0.71417	0.322000	0.25334	0.661000	0.39034	5.971000	0.70440	2.683000	0.91414	0.558000	0.71614	GGG	PXDN	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000130508		0.647	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1	-	0	36	0	C	XM_056455		1652938	-1	tier1	-	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.975	T	T	1652938	C	T	1652938	3	4	90	1	0	0	0	0	1	0	0	0	12892	652	23	1	1853	1	PXDN	2	1652938	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		1652938	241546435	32	25767											
KLF11	8462	genome.wustl.edu	37	chr2	10187921	10187921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctctgagcgggggcGcggagaggggcttgctgggt	5	6	21	9	3	1	3	0	1	1	2	1	4	1	3	1	6	3	3	1	6	0	1	rs541774526		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:10187921G>A	ENST00000305883.1	+	3	619	c.457G>A	c.(457-459)Gcg>Acg	p.A153T	KLF11_ENST00000535335.1_Missense_Mutation_p.A136T|KLF11_ENST00000540845.1_Missense_Mutation_p.A136T	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	153					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A153T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GAGCGGGGGCGCGGAGAGGGG	0.617													G|||	1	0.000199681	8e-04	0	5008	,	,		15906	0		0	False		,,,				2504	0				Melanoma(56;431 1507 23687 50789)												1	Substitution - Missense(1)	endometrium(1)											51	52	51					2																	10187921		2203	4300	6503	SO:0001583	missense	0			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.457G>A	2.37:g.10187921G>A	ENSP00000307023:p.Ala153Thr		B4DZE7|Q9EPF4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A153T	ENST00000305883.1	37	c.457	CCDS1668.1	2	.	.	.	.	.	.	.	.	.	.	G	6.311	0.425509	0.11987	.	.	ENSG00000172059	ENST00000305883;ENST00000448523;ENST00000540845;ENST00000535335	T;T;T;T	0.63913	2.54;-0.07;2.53;2.53	4.45	-1.92	0.07618	.	2.005690	0.02435	N	0.083995	T	0.46171	0.1379	L	0.28274	0.84	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.15492	-1.0435	9	.	.	.	.	5.9661	0.19326	0.4322:0.2345:0.3333:0.0	.	153	O14901	KLF11_HUMAN	T	153;136;136;136	ENSP00000307023:A153T;ENSP00000387866:A136T;ENSP00000444690:A136T;ENSP00000442722:A136T	.	A	+	1	0	KLF11	10105372	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.590000	0.05760	-0.208000	0.10171	-1.905000	0.00526	GCG	KLF11	-	NULL	ENSG00000172059		0.617	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLF11	HGNC	protein_coding	OTTHUMT00000239202.3		0	74	0	G	NM_003597		10187921	1			no_errors	ENST00000305883	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.000	A	A	10187921	G	A	10187921	3	1	90	1	0	0	0	0	1	0	0	0	8366	1087	38	1	467	1	KLF11	2	10187921	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	8534983	10187921	233011452	33	25768											
APOB	338	genome.wustl.edu	37	chr2	21226114	21226114	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagccagaagctgcctcTtcttcccaattaactttgat	11	12	6	12	0	2	2	0	1	2	1	3	2	3	2	3	0	5	2	3	0	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:21226114T>G	ENST00000233242.1	-	29	12307	c.12180A>C	c.(12178-12180)gaA>gaC	p.E4060D	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4060					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGCCTCTTCTTCCCAAT	0.453																																																	0													202	220	214					2																	21226114		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12180A>C	2.37:g.21226114T>G	ENSP00000233242:p.Glu4060Asp		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E4060D	ENST00000233242.1	37	c.12180	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	12.67	2.006857	0.35415	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.35421	1.31	5.89	-0.718	0.11205	.	0.322526	0.26069	N	0.026529	T	0.33294	0.0858	M	0.76574	2.34	0.80722	D	1	B	0.25390	0.125	B	0.22753	0.041	T	0.08973	-1.0696	10	0.54805	T	0.06	.	7.9226	0.29854	0.0:0.3466:0.117:0.5364	.	4060	P04114	APOB_HUMAN	D	4060	ENSP00000233242:E4060D	ENSP00000233242:E4060D	E	-	3	2	APOB	21079619	0.820000	0.29190	0.473000	0.27253	0.716000	0.41182	-0.381000	0.07417	-0.337000	0.08426	-2.671000	0.00144	GAA	APOB	-	NULL	ENSG00000084674		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	80	0	T			21226114	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	54.55	30	36	SNP	0.964	G	G	21226114	T	G	21226114	3	3	90	1	0	0	0	0	1	0	0	0	785	1606	56	4	1515	4	APOB	2	21226114	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	11038193	21226114	221973259	34	25769											
DNMT3A	1788	genome.wustl.edu	37	chr2	25505571	25505571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcctttggcgtgtcacCgctttccacctgcaaatgta	7	12	10	12	2	1	0	1	0	0	0	3	0	3	0	4	2	1	3	4	2	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:25505571C>T	ENST00000264709.3	-	4	524	c.187G>A	c.(187-189)Ggt>Agt	p.G63S	DNMT3A_ENST00000406659.3_Missense_Mutation_p.G63S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G63S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	63					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCGTGTCACCGCTTTCCACC	0.517			"Mis, F, N, S"		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													48	57	54					2																	25505571		2201	4298	6499	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.187G>A	2.37:g.25505571C>T	ENSP00000264709:p.Gly63Ser		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.G63S	ENST00000264709.3	37	c.187	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	0.887	-0.726897	0.03158	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.91792	-2.91;-2.91	4.91	3.75	0.43078	.	0.123897	0.36591	N	0.002515	T	0.74427	0.3715	N	0.02539	-0.55	0.21416	N	0.999692	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61884	-0.6971	10	0.02654	T	1	-1.1177	7.6066	0.28105	0.0:0.0983:0.0:0.9017	.	63;63	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	S	63	ENSP00000324375:G63S;ENSP00000264709:G63S	ENSP00000264709:G63S	G	-	1	0	DNMT3A	25359075	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	2.312000	0.43726	0.720000	0.32209	-0.414000	0.06135	GGT	DNMT3A	-	NULL	ENSG00000119772		0.517	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	-	0	82	0	C	NM_022552		25505571	-1	tier1	-	no_errors	ENST00000264709	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	25505571	C	T	25505571	3	4	90	1	0	0	0	0	1	0	0	0	4690	652	23	1	2764	1	DNMT3A	2	25505571	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	4279457	25505571	217693802	35	25770											
SLC5A6	8884	genome.wustl.edu	37	chr2	27423939	27423939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggagctttggcaacactGggtaaatggttgcagggttc	10	10	14	7	0	0	0	0	0	0	0	1	1	0	1	0	5	3	6	0	5	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:27423939G>T	ENST00000310574.3	-	16	2164	c.1691C>A	c.(1690-1692)cCa>cAa	p.P564Q	SLC5A6_ENST00000408041.1_Missense_Mutation_p.P564Q|SLC5A6_ENST00000461319.1_5'Flank	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	564					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	TGGCAACACTGGGTAAATGGT	0.587																																																	0													115	111	112					2																	27423939		2203	4300	6503	SO:0001583	missense	0			AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"Solute carriers"	11041	protein-coding gene	gene with protein product		604024	"solute carrier family 5 (sodium-dependent vitamin transporter), member 6"			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1691C>A	2.37:g.27423939G>T	ENSP00000310208:p.Pro564Gln		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.P564Q	ENST00000310574.3	37	c.1691	CCDS1740.1	2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355605	0.61293	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.86694	-2.16;-2.16	5.73	5.73	0.89815	.	0.113675	0.64402	D	0.000009	D	0.92489	0.7615	M	0.74647	2.275	0.58432	D	0.999998	D	0.67145	0.996	D	0.64506	0.926	D	0.92991	0.6415	10	0.87932	D	0	.	15.4002	0.74834	0.0:0.0:1.0:0.0	.	564	Q9Y289	SC5A6_HUMAN	Q	564	ENSP00000310208:P564Q;ENSP00000384853:P564Q	ENSP00000310208:P564Q	P	-	2	0	SLC5A6	27277443	1.000000	0.71417	0.995000	0.50966	0.105000	0.19272	5.730000	0.68546	2.698000	0.92095	0.650000	0.86243	CCA	SLC5A6	-	NULL	ENSG00000138074		0.587	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A6	HGNC	protein_coding	OTTHUMT00000214194.1	-	0	69	0	G	NM_021095		27423939	-1	tier1	-	no_errors	ENST00000310574	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	27423939	G	T	27423939	3	4	90	1	0	0	0	0	1	0	0	0	14714	1348	47	3	224	3	SLC5A6	2	27423939	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1918368	27423939	215775434	36	25771											
PPP1CB	5500	genome.wustl.edu	37	chr2	29006802	29006802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacctgcaatctatggagCagattcggagaattatgaga	14	9	11	7	1	1	4	0	1	1	4	2	7	1	5	1	2	2	2	1	2	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:29006802C>T	ENST00000395366.2	+	5	822	c.550C>T	c.(550-552)Cag>Tag	p.Q184*	PPP1CB_ENST00000358506.2_Nonsense_Mutation_p.Q184*|SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000296122.6_Nonsense_Mutation_p.Q184*	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	184					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATCTATGGAGCAGATTCGGAG	0.323																																																	0													126	133	130					2																	29006802		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9282	protein-coding gene	gene with protein product		600590	"protein phosphatase 1, catalytic subunit, beta isoform"			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.550C>T	2.37:g.29006802C>T	ENSP00000378769:p.Gln184*		B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Nonsense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.Q184*	ENST00000395366.2	37	c.550	CCDS33169.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.924996	0.97110	.	.	ENSG00000213639	ENST00000455580;ENST00000358506;ENST00000296122;ENST00000395366	.	.	.	5.87	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.2843	15.5374	0.76013	0.0:0.9336:0.0:0.0664	.	.	.	.	X	156;184;184;184	.	ENSP00000296122:Q184X	Q	+	1	0	PPP1CB	28860306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	1.626000	0.50381	0.655000	0.94253	CAG	PPP1CB	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000213639		0.323	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CB	HGNC	protein_coding	OTTHUMT00000324841.1	-	0	80	0	C			29006802	1	tier1	-	no_errors	ENST00000296122	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	T	T	29006802	C	T	29006802	4	4	90	1	0	0	0	0	0	1	0	0	12392	711	25	3	568	3	PPP1CB	2	29006802	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	1582863	29006802	214192571	37	25772											
SIX3	6496	genome.wustl.edu	37	chr2	45169639	45169640	+	Frame_Shift_Del	DEL	GC	GC	-																															aacaaacacgagtcgatcctGcgcgcgcgcgccgtggtcgc																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:45169639_45169640delGC	ENST00000260653.3	+	1	738_739	c.396_397delGC	c.(394-399)ctgcgcfs	p.R133fs	SIX3-AS1_ENST00000419364.1_RNA|SIX3-AS1_ENST00000456467.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	133					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTCGATCCTGCGCGCGCGCGC	0.658																																																	0										80,3760		4,72,1844						1.9	1			14	131,7539		4,123,3708	no	frameshift	SIX3	NM_005413.3		8,195,5552	A1A1,A1R,RR		1.708,2.0833,1.8332				211,11299				SO:0001589	frameshift_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.396_397delGC	2.37:g.45169649_45169650delGC	ENSP00000260653:p.Arg133fs		D6W5A5|Q53T42	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A136fs	ENST00000260653.3	37	c.396_397	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.658	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1		0	36	0	GC	NM_005413		45169640	1	tier1		no_errors	ENST00000260653	ensembl	human	known	74_37	frame_shift_del	11.11	24	3	DEL	1.000:1.000	-	-	45169640	GC	-	45169639	7	5	90	1	0	1	0	1	0	0	0	0	14393	1306	46	0	398	0	SIX3	2	45169639	Frame_Shift_Del	DEL	GC	TCGA-L5-A8NR-01A-11D-A37C-09	16162837	45169639	198029734	38	25773											
FIGLA	344018	genome.wustl.edu	37	chr2	71017637	71017637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggcagccgcttgagcCggcagacagcggccagctgg	7	3	17	14	4	0	2	0	1	0	1	0	3	0	2	4	4	4	4	4	4	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:71017637C>T	ENST00000332372.6	-	1	138	c.134G>A	c.(133-135)cGg>cAg	p.R45Q		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	45					multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						CCGCTTGAGCCGGCAGACAGC	0.726																																																	0													3	4	3					2																	71017637		1483	3164	4647	SO:0001583	missense	0			BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"Basic helix-loop-helix proteins"	24669	protein-coding gene	gene with protein product	"factor in the germline alpha"	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.134G>A	2.37:g.71017637C>T	ENSP00000333097:p.Arg45Gln			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R45Q	ENST00000332372.6	37	c.134	CCDS46320.1	2	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400566	0.62177	.	.	ENSG00000183733	ENST00000332372	D	0.95980	-3.87	3.83	3.83	0.44106	.	0.150870	0.28971	N	0.013546	D	0.95921	0.8672	L	0.58101	1.795	0.29255	N	0.871719	D	0.89917	1.0	D	0.66716	0.946	D	0.91422	0.5159	10	0.66056	D	0.02	.	7.1783	0.25757	0.0:0.879:0.0:0.121	.	45	Q6QHK4	FIGLA_HUMAN	Q	45	ENSP00000333097:R45Q	ENSP00000333097:R45Q	R	-	2	0	FIGLA	70871145	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	2.425000	0.44723	1.965000	0.57142	0.313000	0.20887	CGG	FIGLA	-	NULL	ENSG00000183733		0.726	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGLA	HGNC	protein_coding	OTTHUMT00000331214.1	-	0	15	0	C	NM_001004311		71017637	-1	tier1	-	no_errors	ENST00000332372	ensembl	human	known	74_37	missense	60.00	4	6	SNP	1.000	T	T	71017637	C	T	71017637	3	4	90	1	0	0	0	0	1	0	0	0	5912	652	23	1	545	1	FIGLA	2	71017637	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	25847998	71017637	172181736	39	25774											
CLEC4F	165530	genome.wustl.edu	37	chr2	71043374	71043374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatttttcatatgaccaTttaagacctgaatctgggca	11	14	8	8	0	2	3	1	2	1	1	2	3	2	3	2	2	0	2	2	2	3	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:71043374T>C	ENST00000272367.2	-	4	1215	c.1139A>G	c.(1138-1140)aAt>aGt	p.N380S	CLEC4F_ENST00000426626.1_Missense_Mutation_p.N380S	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	380					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CATATGACCATTTAAGACCTG	0.413																																					Colon(107;10 2157 6841 26035)												0													119	119	119					2																	71043374		2203	4300	6503	SO:0001583	missense	0			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"C-type lectin domain containing"	25357	protein-coding gene	gene with protein product			"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1139A>G	2.37:g.71043374T>C	ENSP00000272367:p.Asn380Ser		A4QPA5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.N380S	ENST00000272367.2	37	c.1139	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	T	0.747	-0.774141	0.02951	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.76060	-0.99;-0.99	3.88	-2.78	0.05859	.	0.687592	0.12639	N	0.451500	T	0.50240	0.1604	N	0.19112	0.55	0.09310	N	1	B;B	0.25719	0.01;0.132	B;B	0.20767	0.013;0.031	T	0.28332	-1.0047	10	0.27082	T	0.32	.	4.7386	0.13001	0.1861:0.4899:0.0:0.324	.	380;380	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	S	380	ENSP00000272367:N380S;ENSP00000390581:N380S	ENSP00000272367:N380S	N	-	2	0	CLEC4F	70896882	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.695000	0.05109	-0.533000	0.06323	0.383000	0.25322	AAT	CLEC4F	-	NULL	ENSG00000152672		0.413	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1	-	0	84	0	T	NM_173535		71043374	-1	tier1	-	no_errors	ENST00000272367	ensembl	human	known	74_37	missense	20.88	72	19	SNP	0.000	C	C	71043374	T	C	71043374	3	2	90	1	0	0	0	0	1	0	0	0	3523	1493	52	4	646	4	CLEC4F	2	71043374	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	25737	71043374	172155999	40	25775											
PCGF1	84759	genome.wustl.edu	37	chr2	74733105	74733105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctccaggcacaggttcaaCtgctcatcatagcgatagta	11	9	9	12	2	3	0	3	0	0	0	4	1	4	0	1	2	3	5	1	2	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:74733105C>T	ENST00000233630.6	-	5	1415	c.504G>A	c.(502-504)caG>caA	p.Q168Q	PCGF1_ENST00000480844.2_5'UTR|LBX2_ENST00000550249.1_5'Flank|LBX2-AS1_ENST00000548978.2_RNA|LBX2_ENST00000341396.2_5'Flank|LBX2_ENST00000460508.3_5'Flank|LBX2-AS1_ENST00000603175.1_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	168	Required for repressor activity.|Sufficient for interaction with BCOR and BCORL1.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						ACAGGTTCAACTGCTCATCAT	0.572																																																	0													195	199	198					2																	74733105		2203	4300	6503	SO:0001819	synonymous_variant	0			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.504G>A	2.37:g.74733105C>T			Q7Z506	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.Q168	ENST00000233630.6	37	c.504	CCDS1946.2	2																																																																																			PCGF1	-	NULL	ENSG00000115289		0.572	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF1	HGNC	protein_coding	OTTHUMT00000252216.1	-	0	85	0	C	NM_032673		74733105	-1	tier1	-	no_errors	ENST00000233630	ensembl	human	known	74_37	silent	29.79	33	14	SNP	1.000	T	T	74733105	C	T	74733105	2	4	90	1	0	0	0	0	0	0	0	1	11613	564	20	3		3	PCGF1	2	74733105	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3689731	74733105	168466268	41	25776											
ADRA2B	151	genome.wustl.edu	37	chr2	96781560	96781560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcggctcacggcccagtagCggtccaggctgatggcgcac	6	5	15	15	5	1	1	1	1	0	0	2	1	2	1	2	5	1	4	2	5	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:96781560C>T	ENST00000409345.3	-	1	424	c.329G>A	c.(328-330)cGc>cAc	p.R110H		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	110					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGCCCAGTAGCGGTCCAGGCT	0.647																																																	0													35	38	37					2																	96781560		2202	4299	6501	SO:0001583	missense	0			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"GPCR / Class A : Adrenoceptors : alpha"	282	protein-coding gene	gene with protein product		104260	"adrenergic, alpha-2B-, receptor"	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.329G>A	2.37:g.96781560C>T	ENSP00000387281:p.Arg110His		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.R110H	ENST00000409345.3	37	c.329	CCDS56129.1	2	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978104	0.92982	.	.	ENSG00000222040	ENST00000409345	D	0.97161	-4.27	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.99293	0.9753	H	0.99935	4.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97947	1.0329	9	0.87932	D	0	.	14.7699	0.69668	0.0:1.0:0.0:0.0	.	110	P18089	ADA2B_HUMAN	H	110	ENSP00000387281:R110H	ENSP00000387281:R110H	R	-	2	0	ADRA2B	96145287	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.337000	0.79520	0.456000	0.33151	CGC	ADRA2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000222040		0.647	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2B	HGNC	protein_coding	OTTHUMT00000334990.1	-	0	49	0	C			96781560	-1	tier1	-	no_errors	ENST00000409345	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	T	T	96781560	C	T	96781560	3	4	90	1	0	0	0	0	1	0	0	0	338	768	27	1	1018	1	ADRA2B	2	96781560	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	22048455	96781560	146417813	42	25777											
CLASP1	23332	genome.wustl.edu	37	chr2	122145385	122145385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggttgtgcaggagtttgGtggcaccatcctggaatgtt	6	13	16	6	0	0	0	0	0	0	0	1	2	1	2	2	6	1	5	2	6	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:122145385G>T	ENST00000263710.4	-	31	3610	c.3221C>A	c.(3220-3222)aCc>aAc	p.T1074N	CLASP1_ENST00000545861.1_Missense_Mutation_p.T820N|CLASP1_ENST00000397587.3_Missense_Mutation_p.T1053N|CLASP1_ENST00000541377.1_Missense_Mutation_p.T1052N|CLASP1_ENST00000541859.1_Missense_Mutation_p.T830N|CLASP1_ENST00000409078.3_Missense_Mutation_p.T1046N|CLASP1_ENST00000455322.2_Missense_Mutation_p.T1069N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1074					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CAGGAGTTTGGTGGCACCATC	0.463																																																	0													191	195	194					2																	122145385		2027	4185	6212	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"multiple asters 1"	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3221C>A	2.37:g.122145385G>T	ENSP00000263710:p.Thr1074Asn		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T1074N	ENST00000263710.4	37	c.3221		2	.	.	.	.	.	.	.	.	.	.	G	34	5.302320	0.95601	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	0.999;0.997;0.995;1.0	D;D;P;D	0.83275	0.991;0.945;0.883;0.996	T	0.74287	-0.3714	10	0.44086	T	0.13	-13.7918	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1046;1053;1054;1074	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	N	1074;1069;1053;1052;830;1046;820	ENSP00000263710:T1074N;ENSP00000389372:T1069N;ENSP00000380717:T1053N;ENSP00000441625:T1052N;ENSP00000441770:T830N;ENSP00000386442:T1046N;ENSP00000438620:T820N	ENSP00000263710:T1074N	T	-	2	0	CLASP1	121861855	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.941000	0.99782	0.655000	0.94253	ACC	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.463	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding			0	71	0	G	NM_015282		122145385	-1			no_errors	ENST00000263710	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	122145385	G	T	122145385	3	4	90	1	0	0	0	0	1	0	0	0	3461	1261	44	3	1435	3	CLASP1	2	122145385	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	25363825	122145385	121053988	43	25778											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125405341	125405341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtctgggcagaggacaAgatctggacatcagtgcagc	10	9	14	8	0	3	2	1	0	2	2	3	4	3	4	0	3	2	3	0	3	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:125405341A>G	ENST00000431078.1	+	13	2244	c.1880A>G	c.(1879-1881)aAg>aGg	p.K627R		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	627	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAGAGGACAAGATCTGGACA	0.542																																																	0													38	38	38					2																	125405341		2104	4237	6341	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1880A>G	2.37:g.125405341A>G	ENSP00000399013:p.Lys627Arg		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.K627R	ENST00000431078.1	37	c.1880	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538442	0.65085	.	.	ENSG00000155052	ENST00000431078	T	0.20463	2.07	5.5	2.95	0.34219	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.53938	D	0.000058	T	0.33323	0.0859	L	0.50847	1.595	0.48696	D	0.999692	D	0.71674	0.998	D	0.77004	0.989	T	0.09684	-1.0663	10	0.10636	T	0.68	.	11.46	0.50204	0.7146:0.2854:0.0:0.0	.	627	Q8WYK1	CNTP5_HUMAN	R	627	ENSP00000399013:K627R	ENSP00000399013:K627R	K	+	2	0	CNTNAP5	125121811	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.020000	0.70826	0.905000	0.36596	0.459000	0.35465	AAG	CNTNAP5	-	superfamily_Fibrinogen_a/b/g_C_dom	ENSG00000155052		0.542	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	85	0	A			125405341	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	47.27	29	26	SNP	1.000	G	G	125405341	A	G	125405341	3	3	90	1	0	0	0	0	1	0	0	0	3657	72	3	4	1930	4	CNTNAP5	2	125405341	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	3259956	125405341	117794032	44	25779											
GPR148	344561	genome.wustl.edu	37	chr2	131487111	131487111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcactgatgctgtcttCgccgcctgcaccagcaccat	7	11	7	16	2	2	1	1	1	2	0	4	1	2	1	4	0	3	3	4	0	0	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:131487111C>A	ENST00000309926.4	+	1	469	c.387C>A	c.(385-387)ttC>ttA	p.F129L		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					ATGCTGTCTTCGCCGCCTGCA	0.602																																																	0													60	60	60					2																	131487111		2203	4300	6503	SO:0001583	missense	0			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"GPCR / Class A : Orphans"	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.387C>A	2.37:g.131487111C>A	ENSP00000308908:p.Phe129Leu		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F129L	ENST00000309926.4	37	c.387	CCDS2163.1	2	.	.	.	.	.	.	.	.	.	.	.	5.753	0.323376	0.10900	.	.	ENSG00000173302	ENST00000309926	T	0.70516	-0.49	3.15	-0.0212	0.13952	GPCR, rhodopsin-like superfamily (1);	0.112943	0.35151	U	0.003412	T	0.56426	0.1984	N	0.19112	0.55	0.09310	N	1	P	0.39535	0.677	P	0.46076	0.503	T	0.51482	-0.8700	10	0.54805	T	0.06	-11.8138	6.3668	0.21459	0.0:0.5731:0.0:0.4269	.	129	Q8TDV2	GP148_HUMAN	L	129	ENSP00000308908:F129L	ENSP00000308908:F129L	F	+	3	2	GPR148	131203581	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.634000	0.05477	0.099000	0.17552	0.462000	0.41574	TTC	GPR148	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000173302		0.602	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR148	HGNC	protein_coding	OTTHUMT00000254552.3	-	0	22	0	C	XM_293092		131487111	1	tier1	-	no_errors	ENST00000309926	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.007	A	A	131487111	C	A	131487111	3	1	90	1	0	0	0	0	1	0	0	0	6679	883	31	2	389	2	GPR148	2	131487111	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	6081770	131487111	111712262	45	25780											
NCKAP5	344148	genome.wustl.edu	37	chr2	133489333	133489333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctggtttggggaggCggctctgaagaggcctcatc	8	8	17	8	1	2	2	1	1	1	1	3	4	2	4	1	7	1	3	1	7	2	1	rs373366099	byFrequency	TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:133489333C>T	ENST00000409261.1	-	17	5793	c.5420G>A	c.(5419-5421)cGc>cAc	p.R1807H	NCKAP5_ENST00000409213.1_Missense_Mutation_p.R488H|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1807H|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Missense_Mutation_p.R488H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1807								p.R327H(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGGGAGGCGGCTCTGAAG	0.517													C|||	2	0.000399361	0	0	5008	,	,		19407	0		0	False		,,,				2504	0.002																1	Substitution - Missense(1)	liver(1)											57	60	59					2																	133489333		1935	4140	6075	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5420G>A	2.37:g.133489333C>T	ENSP00000387128:p.Arg1807His		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.R1807H	ENST00000409261.1	37	c.5420	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210718	0.22289	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.51325	2.72;0.71;2.72;0.71	5.43	-0.481	0.12082	.	0.245826	0.20275	N	0.095597	T	0.20941	0.0504	N	0.11560	0.145	0.22811	N	0.9987	B;B	0.18741	0.017;0.03	B;B	0.16722	0.003;0.016	T	0.14172	-1.0482	10	0.20046	T	0.44	.	4.7406	0.13010	0.3618:0.4484:0.0:0.1898	.	488;1807	O14513-2;O14513	.;NCKP5_HUMAN	H	1807;488;1807;488;488	ENSP00000387128:R1807H;ENSP00000386952:R488H;ENSP00000380603:R1807H;ENSP00000385692:R488H	ENSP00000380603:R1807H	R	-	2	0	NCKAP5	133205803	0.579000	0.26725	0.689000	0.30133	0.747000	0.42532	-0.287000	0.08388	-0.270000	0.09285	-0.142000	0.14014	CGC	NCKAP5	-	NULL	ENSG00000176771		0.517	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	74	0	C	NM_207481		133489333	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	missense	21.69	64	18	SNP	0.996	T	T	133489333	C	T	133489333	3	4	90	1	0	0	0	0	1	0	0	0	10262	768	27	1	325	1	NCKAP5	2	133489333	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2002222	133489333	109710040	46	25781											
NCKAP5	344148	genome.wustl.edu	37	chr2	133540076	133540076	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtactgcttgtttcaaaAgtgcttggatgctgagtcct	8	15	11	7	0	1	1	1	1	0	0	2	3	2	2	1	1	4	5	1	1	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:133540076A>G	ENST00000409261.1	-	14	4681	c.4308T>C	c.(4306-4308)acT>acC	p.T1436T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1436T|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1436										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTGTTTCAAAAGTGCTTGGAT	0.572																																																	0													48	49	49					2																	133540076		1944	4135	6079	SO:0001819	synonymous_variant	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4308T>C	2.37:g.133540076A>G			B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	NULL	p.T1436	ENST00000409261.1	37	c.4308	CCDS46418.1	2																																																																																			NCKAP5	-	NULL	ENSG00000176771		0.572	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	-	0	35	0	A	NM_207481		133540076	-1	tier1	-	no_errors	ENST00000317721	ensembl	human	known	74_37	silent	29.73	26	11	SNP	0.033	G	G	133540076	A	G	133540076	2	3	90	1	0	0	0	0	0	0	0	1	10262	59	3	4		4	NCKAP5	2	133540076	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	50743	133540076	109659297	47	25782											
THSD7B	80731	genome.wustl.edu	37	chr2	138208594	138208594	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactggatctcaagaatcagGtaaagtgcatgaagcaacaa	18	7	9	7	0	2	2	2	1	1	1	3	3	2	3	0	2	4	3	0	2	8	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:138208594G>T	ENST00000409968.1	+	15	3316		c.e15+1		THSD7B_ENST00000413152.2_Splice_Site|THSD7B_ENST00000272643.3_Splice_Site|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B							integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAAGAATCAGGTAAAGTGCAT	0.353																																																	0													50	45	46					2																	138208594		1847	4092	5939	SO:0001630	splice_region_variant	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3138+1G>T	2.37:g.138208594G>T				Splice_Site	SNP	-	e14+1	ENST00000409968.1	37	c.3138+1		2	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966069	0.92855	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THSD7B	137925064	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	.	THSD7B	-	-	ENSG00000144229		0.353	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	50	0	G	XM_046570.9	Intron	138208594	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	splice_site	29.03	22	9	SNP	1.000	T	T	138208594	G	T	138208594	5	4	90	1	0	0	0	0	0	0	1	0	15927	1275	44	3	3100	3	THSD7B	2	138208594	Splice_Site	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	4668518	138208594	104990779	48	25783											
THSD7B	80731	genome.wustl.edu	37	chr2	138400127	138400127	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggccatgccccacagagcTtacccaggagaaaacctgcc	12	4	9	16	1	0	2	0	0	0	2	0	3	0	2	6	2	5	1	6	2	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:138400127T>G	ENST00000409968.1	+	21	4047	c.3869T>G	c.(3868-3870)cTt>cGt	p.L1290R	THSD7B_ENST00000413152.2_Missense_Mutation_p.L1262R|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1293R|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1292	TSP type-1 16. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCACAGAGCTTACCCAGGAG	0.502																																																	0													103	106	105					2																	138400127		1909	4111	6020	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3869T>G	2.37:g.138400127T>G	ENSP00000387145:p.Leu1290Arg			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L1293R	ENST00000409968.1	37	c.3878		2	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767567	0.69878	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.53857	0.6;0.6;0.6	5.33	5.33	0.75918	.	0.067115	0.64402	D	0.000011	T	0.60650	0.2285	L	0.38838	1.175	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.54576	-0.8273	10	0.18710	T	0.47	.	14.413	0.67128	0.0:0.0:0.0:1.0	.	1262	C9JKN6	.	R	1290;1293;1262	ENSP00000387145:L1290R;ENSP00000272643:L1293R;ENSP00000413841:L1262R	ENSP00000272643:L1293R	L	+	2	0	THSD7B	138116597	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	4.849000	0.62882	2.234000	0.73211	0.533000	0.62120	CTT	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	29	0	T	XM_046570.9		138400127	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.999	G	G	138400127	T	G	138400127	3	3	90	1	0	0	0	0	1	0	0	0	15927	1609	56	4	3859	4	THSD7B	2	138400127	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	191533	138400127	104799246	49	25784											
BAZ2B	29994	genome.wustl.edu	37	chr2	160181430	160181430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaagtagaaaaggccatGcatcctcatgagtttccatt	13	10	9	9	0	1	2	1	1	0	1	3	3	3	3	3	2	1	3	3	2	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:160181430G>T	ENST00000392783.2	-	36	6740	c.6245C>A	c.(6244-6246)gCa>gAa	p.A2082E	BAZ2B_ENST00000355831.2_Missense_Mutation_p.A2048E|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1982E|BAZ2B_ENST00000392782.1_Missense_Mutation_p.A2046E	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2082	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAAAGGCCATGCATCCTCATG	0.299																																																	0													63	59	60					2																	160181430		1809	4078	5887	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.6245C>A	2.37:g.160181430G>T	ENSP00000376534:p.Ala2082Glu		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.A2082E	ENST00000392783.2	37	c.6245	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101450	0.56183	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.37411	1.2;1.2;1.2;1.2	5.48	5.48	0.80851	Bromodomain (6);Bromodomain, conserved site (1);	0.212479	0.22871	U	0.054631	T	0.69593	0.3128	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.97;0.999	T	0.75508	-0.3293	10	0.87932	D	0	-5.2601	19.7236	0.96153	0.0:0.0:1.0:0.0	.	2046;2082	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	E	2046;2082;2048;1982	ENSP00000376533:A2046E;ENSP00000376534:A2082E;ENSP00000348087:A2048E;ENSP00000339670:A1982E	ENSP00000339670:A1982E	A	-	2	0	BAZ2B	159889676	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.358000	0.97109	2.730000	0.93505	0.655000	0.94253	GCA	BAZ2B	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000123636		0.299	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0	82	0	G			160181430	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	160181430	G	T	160181430	3	4	90	1	0	0	0	0	1	0	0	0	1333	1319	46	3	269	3	BAZ2B	2	160181430	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	21781303	160181430	83017943	50	25785											
SCN3A	6328	genome.wustl.edu	37	chr2	166003485	166003485	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactttccaacagctctcCtaacccacctattccactga	12	10	3	16	0	1	2	0	1	1	1	4	2	3	2	5	0	4	1	5	0	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:166003485C>A	ENST00000360093.3	-	12	1926	c.1435G>T	c.(1435-1437)Gga>Tga	p.G479*	RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.G479*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.G479*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	479					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACAGCTCTCCTAACCCACCT	0.443																																																	0													114	116	115					2																	166003485		2203	4300	6503	SO:0001587	stop_gained	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1435G>T	2.37:g.166003485C>A	ENSP00000353206:p.Gly479*		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.G479*	ENST00000360093.3	37	c.1435		2	.	.	.	.	.	.	.	.	.	.	C	43	10.261439	0.99370	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	.	.	.	X	479	.	ENSP00000283254:G479X	G	-	1	0	SCN3A	165711731	0.931000	0.31567	0.976000	0.42696	0.870000	0.49936	1.830000	0.39131	2.780000	0.95670	0.655000	0.94253	GGA	SCN3A	-	NULL	ENSG00000153253		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding			0	42	0	C	NM_006922		166003485	-1			no_errors	ENST00000283254	ensembl	human	known	74_37	nonsense	6.25	45	3	SNP	0.999	A	A	166003485	C	A	166003485	4	1	90	1	0	0	0	0	0	1	0	0	13963	690	24	3	4635	3	SCN3A	2	166003485	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	5822055	166003485	77195888	51	25786											
XIRP2	129446	genome.wustl.edu	37	chr2	168099884	168099884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtggatgtttgaaacaaGgccattggactcaatgaata	13	11	11	6	1	1	2	1	2	0	0	2	4	1	4	1	4	1	1	1	4	5	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:168099884G>T	ENST00000409195.1	+	9	2071	c.1982G>T	c.(1981-1983)aGg>aTg	p.R661M	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R439M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R661M|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	486					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTGAAACAAGGCCATTGGAC	0.438																																																	0													74	71	72					2																	168099884		1903	4131	6034	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1982G>T	2.37:g.168099884G>T	ENSP00000386840:p.Arg661Met		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R661M	ENST00000409195.1	37	c.1982	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882346	0.51908	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.12	5.93	3.81	0.43845	.	0.267324	0.43416	D	0.000563	T	0.04543	0.0124	L	0.34521	1.04	0.40642	D	0.981958	P;P;P	0.51351	0.906;0.944;0.944	P;P;P	0.51135	0.459;0.563;0.66	T	0.49234	-0.8961	10	0.62326	D	0.03	-4.8712	7.543	0.27751	0.86:0.0:0.14:0.0	.	486;486;439	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	M	661;661;439	ENSP00000386840:R661M;ENSP00000295237:R661M;ENSP00000387255:R439M	ENSP00000295237:R661M	R	+	2	0	XIRP2	167808130	0.988000	0.35896	1.000000	0.80357	0.993000	0.82548	3.004000	0.49513	0.663000	0.31027	-0.140000	0.14226	AGG	XIRP2	-	NULL	ENSG00000163092		0.438	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0	28	0	G	NM_152381		168099884	1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	168099884	G	T	168099884	3	4	90	1	0	0	0	0	1	0	0	0	17479	1000	35	3	2012	3	XIRP2	2	168099884	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2096399	168099884	75099489	52	25787											
LRP2	4036	genome.wustl.edu	37	chr2	170027070	170027070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacagttaccacagtcccGttcatctgagttgtccccac	9	11	7	14	1	2	2	1	2	1	0	4	2	4	2	4	0	1	3	4	0	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:170027070G>A	ENST00000263816.3	-	59	11656	c.11371C>T	c.(11371-11373)Cgg>Tgg	p.R3791W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3791	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3791W(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	CCACAGTCCCGTTCATCTGAG	0.448																																																	1	Substitution - Missense(1)	breast(1)											178	152	161					2																	170027070		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11371C>T	2.37:g.170027070G>A	ENSP00000263816:p.Arg3791Trp		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R3791W	ENST00000263816.3	37	c.11371	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126997	0.77549	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	D	0.95588	-3.75	5.56	4.68	0.58851	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.172256	0.48767	D	0.000170	D	0.96821	0.8962	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96278	0.9204	10	0.40728	T	0.16	.	13.7586	0.62952	0.0:0.0:0.7203:0.2797	.	3791	P98164	LRP2_HUMAN	W	3791;486	ENSP00000263816:R3791W	ENSP00000263816:R3791W	R	-	1	2	LRP2	169735316	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	3.941000	0.56607	1.460000	0.47911	0.655000	0.94253	CGG	LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	68	0	G	NM_004525		170027070	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	22.00	39	11	SNP	1.000	A	A	170027070	G	A	170027070	3	1	90	1	0	0	0	0	1	0	0	0	8991	1144	40	1	2680	1	LRP2	2	170027070	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1927186	170027070	73172303	53	25788											
SLC25A12	8604	genome.wustl.edu	37	chr2	172641886	172641886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttcgatgcctgcaaaCgtggctgtggcgagtctgta	6	14	13	8	3	1	0	0	0	1	0	2	2	1	0	1	2	3	4	1	2	2	4	rs369901246		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:172641886C>T	ENST00000422440.2	-	18	1972	c.1935G>A	c.(1933-1935)acG>acA	p.T645T	SLC25A12_ENST00000392592.4_Silent_p.T538T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	645					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TGCCTGCAAACGTGGCTGTGG	0.517																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	177	163	168		1935	0.7	1	2		168	0,8600		0,0,4300	no	coding-synonymous	SLC25A12	NM_003705.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		645/679	172641886	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"Solute carriers", "EF-hand domain containing"	10982	protein-coding gene	gene with protein product		603667	"solute carrier family 25 (mitochondrial carrier, Aralar), member 12"			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1935G>A	2.37:g.172641886C>T			B3KR64|Q96AM8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.T645	ENST00000422440.2	37	c.1935	CCDS33327.1	2																																																																																			SLC25A12	-	NULL	ENSG00000115840		0.517	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	-	0	80	0	C	NM_003705		172641886	-1	tier1	-	no_errors	ENST00000422440	ensembl	human	known	74_37	silent	53.33	42	48	SNP	0.934	T	T	172641886	C	T	172641886	2	4	90	1	0	0	0	0	0	0	0	1	14519	523	19	1		1	SLC25A12	2	172641886	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2614816	172641886	70557487	54	25789											
TTN	7273	genome.wustl.edu	37	chr2	179466867	179466867	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccaatgtcaatgaaaacTtctggttcctctgtaatacc	11	13	6	11	0	3	1	1	1	2	0	5	1	5	1	3	1	2	3	3	1	6	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:179466867T>G	ENST00000591111.1	-	234	50432	c.50208A>C	c.(50206-50208)gaA>gaC	p.E16736D	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E9312D|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9504D|TTN_ENST00000342992.6_Missense_Mutation_p.E15809D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E18377D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9437D|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16736	Ig-like 101.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGAAAACTTCTGGTTCCT	0.358																																																	0													84	79	81					2																	179466867		1859	4104	5963	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.50208A>C	2.37:g.179466867T>G	ENSP00000465570:p.Glu16736Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E15809D	ENST00000591111.1	37	c.47427		2	.	.	.	.	.	.	.	.	.	.	T	10.66	1.412395	0.25465	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62788	-0.0;0.25;0.21;0.22	5.78	1.96	0.26148	Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47097	0.1427	L	0.31926	0.97	0.24492	N	0.994293	B;B;B;B	0.12630	0.006;0.006;0.006;0.006	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.43228	-0.9404	9	0.87932	D	0	.	5.2512	0.15522	0.0:0.3302:0.1488:0.521	.	9312;9437;9504;16736	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15809;9312;9504;9437;9312	ENSP00000343764:E15809D;ENSP00000434586:E9312D;ENSP00000340554:E9504D;ENSP00000352154:E9437D	ENSP00000340554:E9504D	E	-	3	2	TTN	179175112	0.996000	0.38824	1.000000	0.80357	0.969000	0.65631	0.340000	0.19892	0.528000	0.28580	-0.261000	0.10672	GAA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	30	0	T	NM_133378		179466867	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	36.59	25	15	SNP	0.999	G	G	179466867	T	G	179466867	3	3	90	1	0	0	0	0	1	0	0	0	16784	1606	56	4	52878	4	TTN	2	179466867	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	6824981	179466867	63732506	55	25790											
ITGA4	3676	genome.wustl.edu	37	chr2	182322980	182322980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcttcagtgatcaatccCggggcgatttacagatgcag	11	9	11	10	3	2	2	2	1	0	1	3	3	3	2	1	2	3	2	1	2	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:182322980C>T	ENST00000397033.2	+	2	685	c.255C>T	c.(253-255)ccC>ccT	p.P85P	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Silent_p.P85P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	85					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGATCAATCCCGGGGCGATTT	0.597																																																	0													31	35	34					2																	182322980		2026	4185	6211	SO:0001819	synonymous_variant	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"CD molecules", "Integrins"	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.255C>T	2.37:g.182322980C>T			D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P85	ENST00000397033.2	37	c.255	CCDS42788.1	2																																																																																			ITGA4	-	smart_Int_alpha_beta-p	ENSG00000115232		0.597	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	-	0	33	0	C			182322980	1	tier1	-	no_errors	ENST00000397033	ensembl	human	known	74_37	silent	26.09	17	6	SNP	0.992	T	T	182322980	C	T	182322980	2	4	90	1	0	0	0	0	0	0	0	1	7905	639	23	1		1	ITGA4	2	182322980	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2856113	182322980	60876393	56	25791											
HECW2	57520	genome.wustl.edu	37	chr2	197199178	197199178	+	Frame_Shift_Del	DEL	G	G	-																															gggttcttcacggtgatgcaGggggtcgtggctcgcagggc																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:197199178delG	ENST00000260983.3	-	4	647	c.465delC	c.(463-465)cccfs	p.P155fs	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	155					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGGTGATGCAGGGGGTCGTGG	0.478																																																	0													44	37	39					2																	197199178		2202	4300	6502	SO:0001589	frameshift_variant	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.465delC	2.37:g.197199178delG	ENSP00000260983:p.Pro155fs		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Frame_Shift_Del	DEL	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.C156fs	ENST00000260983.3	37	c.465	CCDS33354.1	2																																																																																			HECW2	-	NULL	ENSG00000138411		0.478	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0	80	0	G	NM_020760		197199178	-1	tier1		no_errors	ENST00000260983	ensembl	human	known	74_37	frame_shift_del	17.31	43	9	DEL	0.990	-	-	197199178	G	-	197199178	7	5	90	1	0	1	0	1	0	0	0	0	7070	987	35	0	4357	0	HECW2	2	197199178	Frame_Shift_Del	DEL	G	TCGA-L5-A8NR-01A-11D-A37C-09	14876198	197199178	46000195	57	25792											
FN1	2335	genome.wustl.edu	37	chr2	216240064	216240064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggctgccatgataccagCaaggaattgggtgtggtggc	8	8	17	8	1	0	1	0	1	0	0	0	2	0	2	2	6	3	2	2	6	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:216240064C>A	ENST00000359671.1	-	37	6022	c.5757G>T	c.(5755-5757)ttG>ttT	p.L1919F	FN1_ENST00000446046.1_Missense_Mutation_p.L1919F|FN1_ENST00000443816.1_Missense_Mutation_p.L1829F|FN1_ENST00000357867.4_Missense_Mutation_p.L1829F|FN1_ENST00000357009.2_Missense_Mutation_p.L1919F|FN1_ENST00000345488.5_Missense_Mutation_p.L1919F|FN1_ENST00000336916.4_Missense_Mutation_p.L1919F|FN1_ENST00000323926.6_Missense_Mutation_p.L2010F|FN1_ENST00000346544.3_Missense_Mutation_p.L1919F|FN1_ENST00000354785.4_Missense_Mutation_p.L2010F|FN1_ENST00000421182.1_Missense_Mutation_p.L1829F|FN1_ENST00000432072.2_Missense_Mutation_p.L1920F|FN1_ENST00000356005.4_Missense_Mutation_p.L1829F			P02751	FINC_HUMAN	fibronectin 1	1919	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATGATACCAGCAAGGAATTGG	0.517																																																	0													58	59	59					2																	216240064		2203	4300	6503	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5757G>T	2.37:g.216240064C>A	ENSP00000352696:p.Leu1919Phe		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.L2010F	ENST00000359671.1	37	c.6030		2	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659306	0.67586	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1	5.64	3.83	0.44106	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.139803	0.31721	N	0.007166	T	0.66406	0.2786	L	0.43598	1.365	0.23381	N	0.997796	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.982;1.0;1.0;0.999;0.992;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;P;D;D;D;D;D;D;D;D	0.91635	0.933;0.998;0.998;0.96;0.883;0.998;0.999;0.96;0.999;0.998;0.998;0.999;0.999	T	0.57837	-0.7742	10	0.51188	T	0.08	.	10.9623	0.47393	0.0:0.69:0.2433:0.0667	.	1710;1919;1920;2010;1829;1829;1919;1919;1920;1829;1829;2010;1919	Q68CX6;F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	F	1829;2010;1919;1829;2010;1920;1919;1919;1919;1919;1919;1829;1920;1829;636;38	ENSP00000394423:L1829F;ENSP00000323534:L2010F;ENSP00000338200:L1919F;ENSP00000350534:L1829F;ENSP00000346839:L2010F;ENSP00000352696:L1919F;ENSP00000265312:L1919F;ENSP00000273049:L1919F;ENSP00000349509:L1919F;ENSP00000410422:L1919F;ENSP00000415018:L1829F;ENSP00000399538:L1920F;ENSP00000348285:L1829F;ENSP00000416139:L636F;ENSP00000392565:L38F	ENSP00000265313:L1920F	L	-	3	2	FN1	215948309	1.000000	0.71417	0.930000	0.37139	0.986000	0.74619	1.721000	0.38032	0.720000	0.32209	0.563000	0.77884	TTG	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.517	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	75	0	C	NM_212476		216240064	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A	A	216240064	C	A	216240064	3	1	90	1	0	0	0	0	1	0	0	0	5984	709	25	3	1439	3	FN1	2	216240064	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	19040886	216240064	26959309	58	25793											
CYP27A1	1593	genome.wustl.edu	37	chr2	219679730	219679730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaataagaaagtgggcctgCagttcctgcagagacagtgc	12	7	12	10	0	0	2	0	0	0	2	1	3	1	2	3	1	3	3	3	1	3	2	rs374507635		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:219679730C>G	ENST00000258415.4	+	9	2000	c.1573C>G	c.(1573-1575)Cag>Gag	p.Q525E		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	525					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	AGTGGGCCTGCAGTTCCTGCA	0.597																																																	0													102	93	96					2																	219679730		2203	4300	6503	SO:0001583	missense	0			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"Cytochrome P450s"	2605	protein-coding gene	gene with protein product	"cerebrotendinous xanthomatosis"	606530	"cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1573C>G	2.37:g.219679730C>G	ENSP00000258415:p.Gln525Glu		A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.Q525E	ENST00000258415.4	37	c.1573	CCDS2423.1	2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444307	0.25987	.	.	ENSG00000135929	ENST00000258415	T	0.68181	-0.31	4.39	2.4	0.29515	.	0.693854	0.15174	N	0.276497	T	0.45337	0.1337	N	0.20986	0.625	0.09310	N	0.999997	B	0.19583	0.037	B	0.18871	0.023	T	0.17868	-1.0355	10	0.22109	T	0.4	-0.5045	4.672	0.12694	0.1425:0.6075:0.1579:0.0921	.	525	Q02318	CP27A_HUMAN	E	525	ENSP00000258415:Q525E	ENSP00000258415:Q525E	Q	+	1	0	CYP27A1	219387974	0.909000	0.30893	0.915000	0.36163	0.832000	0.47134	1.818000	0.39012	1.145000	0.42336	-0.140000	0.14226	CAG	CYP27A1	-	superfamily_Cyt_P450	ENSG00000135929		0.597	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	-	0	37	0	C			219679730	1	tier1	-	no_errors	ENST00000258415	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.466	G	G	219679730	C	G	219679730	3	3	90	1	0	0	0	0	1	0	0	0	4167	711	25	5	1607	5	CYP27A1	2	219679730	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3439666	219679730	23519643	59	25794											
C2orf85	285093	genome.wustl.edu	37	chr2	242811962	242811962	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaccctggccatggcCgagaggaagccccaggacgt	9	5	12	15	2	1	1	1	0	0	1	1	4	1	3	6	4	1	0	6	4	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr2:242811962C>T	ENST00000343216.3	+	1	82	c.54C>T	c.(52-54)gcC>gcT	p.A18A		NM_173821.2	NP_776182.2																					TGGCCATGGCCGAGAGGAAGC	0.701																																																	0													20	27	24					2																	242811962		2005	4161	6166	SO:0001819	synonymous_variant	0																														ENST00000343216.3:c.54C>T	2.37:g.242811962C>T				Silent	SNP	NULL	p.A18	ENST00000343216.3	37	c.54	CCDS42843.1	2																																																																																			CXXC11	-	NULL	ENSG00000188011		0.701	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1	-	0	165	0	C			242811962	1	tier1	-	no_errors	ENST00000343216	ensembl	human	known	74_37	silent	28.04	77	30	SNP	0.020	T	T	242811962	C	T	242811962	2	4	90	1	0	0	0	0	0	0	0	1	2207	639	23	1		1	C2orf85	2	242811962	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	23132232	242811962	387411	60	25795											
ZCWPW2	152098	genome.wustl.edu	37	chr3	28566105	28566105	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtaattgatgggataaaaTtaaaagctggagaatgtatt	16	14	10	1	0	0	2	0	1	0	1	0	4	0	3	0	2	1	3	0	2	7	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:28566105T>G	ENST00000383768.2	+	10	1185	c.997T>G	c.(997-999)Tta>Gta	p.L333V	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.L333V			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	333							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TGGGATAAAATTAAAAGCTGG	0.318																																																	0													76	87	83					3																	28566105		2200	4299	6499	SO:0001583	missense	0			BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.997T>G	3.37:g.28566105T>G	ENSP00000373278:p.Leu333Val			Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW	p.L333V	ENST00000383768.2	37	c.997	CCDS33723.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.15|14.15	2.450031|2.450031	0.43531|0.43531	.|.	.|.	ENSG00000206559|ENSG00000206559	ENST00000419130|ENST00000383768;ENST00000421010	.|T;T	.|0.37915	.|1.17;1.17	6.03|6.03	0.978|0.978	0.19740|0.19740	.|.	.|0.331414	.|0.21968	.|N	.|0.066493	T|T	0.30978|0.30978	0.0782|0.0782	L|L	0.32530|0.32530	0.975|0.975	0.21184|0.21184	N|N	0.999769|0.999769	.|D	.|0.58268	.|0.982	.|P	.|0.48815	.|0.591	T|T	0.16453|0.16453	-1.0402|-1.0402	5|10	.|0.72032	.|D	.|0.01	-3.5801|-3.5801	8.3426|8.3426	0.32252|0.32252	0.0:0.3332:0.0:0.6668|0.0:0.3332:0.0:0.6668	.|.	.|333	.|Q504Y3	.|ZCPW2_HUMAN	S|V	217|333	.|ENSP00000373278:L333V;ENSP00000412386:L333V	.|ENSP00000373278:L333V	I|L	+|+	2|1	0|2	ZCWPW2|ZCWPW2	28541109|28541109	0.468000|0.468000	0.25839|0.25839	0.241000|0.241000	0.24154|0.24154	0.991000|0.991000	0.79684|0.79684	0.362000|0.362000	0.20284|0.20284	-0.056000|-0.056000	0.13221|0.13221	-0.290000|-0.290000	0.09829|0.09829	ATT|TTA	ZCWPW2	-	NULL	ENSG00000206559		0.318	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCWPW2	HGNC	protein_coding	OTTHUMT00000341318.1	-	0	93	0	T	XM_087384		28566105	1	tier1	-	no_errors	ENST00000383768	ensembl	human	known	74_37	missense	79.17	20	76	SNP	0.306	G	G	28566105	T	G	28566105	3	3	90	1	0	0	0	0	1	0	0	0	17646	1490	52	4	1027	4	ZCWPW2	3	28566105	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09		28566105	169456325	61	25796											
TGFBR2	7048	genome.wustl.edu	37	chr3	30713853	30713853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaagaacgacctaacctGctgcctgtgtgactttgggc	8	10	12	11	2	0	3	0	2	0	1	0	4	0	3	3	1	4	1	3	1	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:30713853G>T	ENST00000295754.5	+	4	1560	c.1178G>T	c.(1177-1179)tGc>tTc	p.C393F	TGFBR2_ENST00000359013.4_Missense_Mutation_p.C418F	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	393	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.C393F(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GACCTAACCTGCTGCCTGTGT	0.547																																																	2	Substitution - Missense(2)	pancreas(2)											314	277	290					3																	30713853		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1178G>T	3.37:g.30713853G>T	ENSP00000295754:p.Cys393Phe		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.C418F	ENST00000295754.5	37	c.1253	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057205	0.76074	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93307	-3.2;-3.2	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.80764	0.994;0.979	D	0.97917	1.0312	10	0.87932	D	0	.	18.3609	0.90374	0.0:0.0:1.0:0.0	.	393;418	P37173;D2JYI1	TGFR2_HUMAN;.	F	393;418;223	ENSP00000295754:C393F;ENSP00000351905:C418F	ENSP00000295754:C393F	C	+	2	0	TGFBR2	30688857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.864000	0.99589	2.333000	0.79357	0.650000	0.86243	TGC	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	ENSG00000163513		0.547	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	32	0	G			30713853	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	59.38	13	19	SNP	1.000	T	T	30713853	G	T	30713853	3	4	90	1	0	0	0	0	1	0	0	0	15869	1319	46	3	1271	3	TGFBR2	3	30713853	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2147748	30713853	167308577	62	25797											
SCN5A	6331	genome.wustl.edu	37	chr3	38639278	38639278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgttgtagtgctccagcGccatgaagagtgtgttgagt	8	13	13	7	1	1	3	1	2	0	1	2	3	2	3	2	0	2	4	2	0	2	3	rs137854611		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:38639278G>T	ENST00000333535.4	-	14	2353	c.2204C>A	c.(2203-2205)gCg>gAg	p.A735E	SCN5A_ENST00000455624.2_Missense_Mutation_p.A735E|SCN5A_ENST00000423572.2_Missense_Mutation_p.A735E|SCN5A_ENST00000414099.2_Missense_Mutation_p.A735E|SCN5A_ENST00000413689.1_Missense_Mutation_p.A735E|SCN5A_ENST00000450102.2_Missense_Mutation_p.A735E|SCN5A_ENST00000443581.1_Missense_Mutation_p.A735E|SCN5A_ENST00000425664.1_Missense_Mutation_p.A735E|SCN5A_ENST00000451551.2_Missense_Mutation_p.A735E|SCN5A_ENST00000449557.2_Missense_Mutation_p.A735E			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	735			A -> E (in BRGDA1). {ECO:0000269|PubMed:11901046}.|A -> V (in BRGDA1 and SSS1; expresses currents with steady state activation voltage shifted to more positive potentials and exhibit reduced sodium channel current at the end of phase I of the action potential). {ECO:0000269|PubMed:22795782}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.A735V(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGCTCCAGCGCCATGAAGAG	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)	GRCh37	CM020302|CM024639	SCN5A	M	rs137854611						133	132	132					3																	38639278		2105	4231	6336	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10593	protein-coding gene	gene with protein product	"long QT syndrome 3"	600163	"sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.2204C>A	3.37:g.38639278G>T	ENSP00000328968:p.Ala735Glu		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.A735E	ENST00000333535.4	37	c.2204	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646921	0.67358	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	4.68	4.68	0.58851	.	0.053822	0.85682	N	0.000000	D	0.98899	0.9627	H	0.94847	3.59	0.80722	D	1	D;B;D;D;B;B;B	0.89917	1.0;0.004;1.0;1.0;0.004;0.096;0.008	D;B;D;D;B;B;B	0.91635	0.997;0.003;0.999;0.997;0.003;0.069;0.008	D	0.99616	1.0982	10	0.87932	D	0	.	17.7531	0.88440	0.0:0.0:1.0:0.0	.	735;735;735;735;735;735;735	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	E	735	ENSP00000398962:A735E;ENSP00000398266:A735E;ENSP00000410257:A735E;ENSP00000388797:A735E;ENSP00000397915:A735E;ENSP00000416634:A735E;ENSP00000328968:A735E;ENSP00000399524:A735E;ENSP00000403355:A735E;ENSP00000413996:A735E	ENSP00000328968:A735E	A	-	2	0	SCN5A	38614282	1.000000	0.71417	0.964000	0.40570	0.983000	0.72400	9.545000	0.98095	2.440000	0.82611	0.491000	0.48974	GCG	SCN5A	-	NULL	ENSG00000183873		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1		0	87	0	G	NM_198056		38639278	-1			no_errors	ENST00000333535	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	38639278	G	T	38639278	3	4	90	1	0	0	0	0	1	0	0	0	13967	1087	38	2	3906	2	SCN5A	3	38639278	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	7925425	38639278	159383152	63	25798											
CTNNB1	1499	genome.wustl.edu	37	chr3	41266205	41266205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcctgtatgagtgggaaCagggattttctcagtccttc	9	13	11	8	0	1	1	1	1	1	0	5	3	3	3	2	2	1	1	2	2	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:41266205C>T	ENST00000349496.5	+	3	482	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.Q68*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.Q61*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.Q68*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.Q68*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	68					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.P16_K133del(1)|p.Q68*(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.V22_S71>A(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TGAGTGGGAACAGGGATTTTC	0.428		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"catenin (cadherin-associated protein), beta 1"		"E, M, O"	106	Deletion - In frame(83)|Complex - deletion inframe(15)|Unknown(7)|Substitution - Nonsense(1)	liver(76)|large_intestine(16)|stomach(8)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)											52	51	51					3																	41266205		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"Armadillo repeat containing"	2514	protein-coding gene	gene with protein product		116806	"catenin (cadherin-associated protein), beta 1 (88kD)"	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.202C>T	3.37:g.41266205C>T	ENSP00000344456:p.Gln68*		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin	p.Q68*	ENST00000349496.5	37	c.202	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.871387	0.97049	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	.	.	.	5.91	5.91	0.95273	.	0.056069	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	-2.5003	20.2983	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	68;68;68;68;61;68;68;68	.	ENSP00000344456:Q68X	Q	+	1	0	CTNNB1	41241209	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.842000	0.62831	2.802000	0.96397	0.655000	0.94253	CAG	CTNNB1	-	NULL	ENSG00000168036		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2		0	37	0	C	NM_001098210		41266205	1			no_errors	ENST00000349496	ensembl	human	known	74_37	nonsense	6.67	28	2	SNP	1.000	T	T	41266205	C	T	41266205	4	4	90	1	0	0	0	0	0	1	0	0	4025	479	17	3	208	3	CTNNB1	3	41266205	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2626927	41266205	156756225	64	25799											
UCN2	90226	genome.wustl.edu	37	chr3	48600422	48600422	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcagctgaggggctctCtgaggccgcaggtcggggag	6	5	21	9	2	1	2	0	2	1	0	3	4	1	4	1	7	2	4	1	7	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:48600422C>A	ENST00000273610.3	-	2	218	c.136G>T	c.(136-138)Gag>Tag	p.E46*	COL7A1_ENST00000470076.1_5'Flank|PFKFB4_ENST00000536104.1_5'Flank	NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	46					cAMP biosynthetic process (GO:0006171)|cell proliferation (GO:0008283)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|digestion (GO:0007586)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of gene expression (GO:0010629)|negative regulation of luteinizing hormone secretion (GO:0033685)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone binding (GO:0042562)|receptor binding (GO:0005102)								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGGGGCTCTCTGAGGCCGCA	0.657																																																	0													23	26	25					3																	48600422		2203	4300	6503	SO:0001587	stop_gained	0			AF320560	CCDS2772.1	3p21.3	2013-02-28			ENSG00000145040	ENSG00000145040		"Endogenous ligands"	18414	protein-coding gene	gene with protein product	"prepro-urocortin 2"	605902				11329063	Standard	NM_033199		Approved	UCNI, SRP, URP, UCN-II	uc003cty.1	Q96RP3	OTTHUMG00000133533	ENST00000273610.3:c.136G>T	3.37:g.48600422C>A	ENSP00000273610:p.Glu46*		Q9BUG0	Nonsense_Mutation	SNP	pfam_Urocortin_II/III	p.E46*	ENST00000273610.3	37	c.136	CCDS2772.1	3	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326040	0.41197	.	.	ENSG00000145040	ENST00000273610	.	.	.	4.87	-0.874	0.10631	.	1.040240	0.07684	N	0.937554	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.0489	0.4985	0.00576	0.2093:0.3255:0.1406:0.3246	.	.	.	.	X	46	.	ENSP00000273610:E46X	E	-	1	0	UCN2	48575426	0.000000	0.05858	0.131000	0.22000	0.091000	0.18340	-0.096000	0.11059	-0.004000	0.14419	-0.188000	0.12872	GAG	UCN2	-	NULL	ENSG00000145040		0.657	UCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCN2	HGNC	protein_coding	OTTHUMT00000257510.1		0	100	0	C	NM_033199		48600422	-1			no_errors	ENST00000273610	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	0.024	A	A	48600422	C	A	48600422	4	1	90	1	0	0	0	0	0	1	0	0	16977	922	32	3	206	3	UCN2	3	48600422	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	7334217	48600422	149422008	65	25800											
AMIGO3	29925	genome.wustl.edu	37	chr3	49755961	49755961	+	3'UTR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaagctcctgctgcggcGaaacccaggcaatgcgcatg	10	6	13	12	3	0	1	0	1	0	1	1	3	1	1	2	2	5	4	2	2	3	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:49755961G>A	ENST00000480687.1	-	0	4423				AMIGO3_ENST00000535833.1_Missense_Mutation_p.S313L|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Missense_Mutation_p.S313L|RNF123_ENST00000433785.1_Intron			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTGCGGCGAAACCCAGGC	0.662																																																	0													37	39	39					3																	49755961		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.*3224C>T	3.37:g.49755961G>A			A8K6N5|Q9H7U3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S313L	ENST00000480687.1	37	c.938	CCDS2803.1	3	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787733	0.70337	.	.	ENSG00000176020	ENST00000320431;ENST00000535833	T;T	0.78481	-1.18;-1.18	5.4	5.4	0.78164	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.132843	0.52532	D	0.000064	T	0.60090	0.2242	L	0.37561	1.115	0.80722	D	1	D	0.56968	0.978	B	0.35727	0.209	T	0.62378	-0.6867	10	0.07990	T	0.79	-21.0304	11.252	0.49031	0.0846:0.0:0.9154:0.0	.	313	Q86WK7	AMGO3_HUMAN	L	313	ENSP00000323096:S313L;ENSP00000439268:S313L	ENSP00000323096:S313L	S	-	2	0	AMIGO3	49730965	1.000000	0.71417	0.136000	0.22124	0.411000	0.31082	8.004000	0.88535	2.530000	0.85305	0.462000	0.41574	TCG	AMIGO3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000176020		0.662	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO3	HGNC	protein_coding	OTTHUMT00000350291.1	-	0	38	0	G	NM_013334		49755961	-1	tier1	-	no_errors	ENST00000320431	ensembl	human	known	74_37	missense	76.92	6	20	SNP	0.878	A	A	49755961	G	A	49755961	1	1	90	0	1	0	0	0	0	0	0	0	577	1059	37	1		1	AMIGO3	3	49755961	3'UTR	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1155539	49755961	148266469	66	25801											
SEMA3F	6405	genome.wustl.edu	37	chr3	50225291	50225291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtactgggccgggacGccgtccatgctgccctcttc	4	10	12	15	3	1	0	0	0	1	0	3	1	2	1	4	2	4	3	4	2	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:50225291G>A	ENST00000002829.3	+	19	2585	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	SEMA3F_ENST00000413852.1_Missense_Mutation_p.A602T|SEMA3F_ENST00000434342.1_Missense_Mutation_p.A670T	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	701					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGGCCGGGACGCCGTCCATGC	0.637																																																	0													55	43	47					3																	50225291		2203	4300	6503	SO:0001583	missense	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2101G>A	3.37:g.50225291G>A	ENSP00000002829:p.Ala701Thr		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A701T	ENST00000002829.3	37	c.2101	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353878	0.24512	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.52754	0.72;0.65;0.71	5.57	5.57	0.84162	.	0.406937	0.29616	N	0.011645	T	0.33904	0.0879	L	0.37630	1.12	0.45284	D	0.998287	B;B	0.27656	0.184;0.085	B;B	0.15870	0.014;0.011	T	0.12116	-1.0560	10	0.13108	T	0.6	.	12.4286	0.55561	0.0812:0.0:0.9188:0.0	.	670;701	C9JQ85;Q13275	.;SEM3F_HUMAN	T	602;701;670	ENSP00000388931:A602T;ENSP00000002829:A701T;ENSP00000409859:A670T	ENSP00000002829:A701T	A	+	1	0	SEMA3F	50200295	0.987000	0.35691	0.913000	0.36048	0.719000	0.41307	3.339000	0.52135	2.613000	0.88420	0.462000	0.41574	GCC	SEMA3F	-	NULL	ENSG00000001617		0.637	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1		0	27	0	G	NM_004186		50225291	1			no_errors	ENST00000002829	ensembl	human	known	74_37	missense	50.00	2	2	SNP	0.953	A	A	50225291	G	A	50225291	3	1	90	1	0	0	0	0	1	0	0	0	14074	1087	38	1	2171	1	SEMA3F	3	50225291	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	469330	50225291	147797139	67	25802											
C3orf67	200844	genome.wustl.edu	37	chr3	58849417	58849417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgagtctttccatgaggtGctgatcgtggtcttgatgaa	7	15	12	7	1	3	5	0	5	3	0	5	5	4	5	1	2	1	1	1	2	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:58849417G>A	ENST00000482387.1	-	8	1181	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.A269V|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.A362V			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	362										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCCATGAGGTGCTGATCGTGG	0.468																																																	0													144	137	139					3																	58849417		2203	4300	6503	SO:0001583	missense	0			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1085C>T	3.37:g.58849417G>A	ENSP00000417122:p.Ala362Val		B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.A362V	ENST00000482387.1	37	c.1085		3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152241	0.78001	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.26067	1.9;2.07;1.76	5.39	4.5	0.54988	.	0.140759	0.46442	D	0.000299	T	0.31482	0.0798	L	0.58810	1.83	0.80722	D	1	D;P;B	0.55605	0.972;0.736;0.319	P;B;B	0.47075	0.536;0.397;0.111	T	0.02837	-1.1104	10	0.42905	T	0.14	-13.0341	13.3245	0.60452	0.0774:0.0:0.9226:0.0	.	269;362;362	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	V	362;362;67;269	ENSP00000295966:A362V;ENSP00000417122:A362V;ENSP00000417271:A269V	ENSP00000295966:A362V	A	-	2	0	C3orf67	58824457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.951000	0.63610	2.678000	0.91216	0.655000	0.94253	GCA	C3orf67	-	NULL	ENSG00000163689		0.468	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	-	0	71	0	G	NM_198463		58849417	-1	tier1	-	no_errors	ENST00000482387	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	58849417	G	A	58849417	3	1	90	1	0	0	0	0	1	0	0	0	2248	1319	46	3	626	3	C3orf67	3	58849417	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	8624126	58849417	139173013	68	25803											
ZBTB20	26137	genome.wustl.edu	37	chr3	114069573	114069573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggacgctcttgtcggagCtgttgctgacagtgataaca	9	11	13	8	2	1	2	0	2	1	0	2	4	1	4	0	2	3	5	0	2	2	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:114069573C>T	ENST00000474710.1	-	4	1530	c.1352G>A	c.(1351-1353)aGc>aAc	p.S451N	ZBTB20_ENST00000464560.1_Missense_Mutation_p.S378N|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S378N|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S378N|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S378N|ZBTB20_ENST00000462705.1_Missense_Mutation_p.S378N|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S378N|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	451						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTTGTCGGAGCTGTTGCTGAC	0.547																																					NSCLC(69;748 1344 9802 11203 30933)												0													110	88	95					3																	114069573		2203	4300	6503	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	13503	protein-coding gene	gene with protein product		606025	"zinc finger protein 288"	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.1352G>A	3.37:g.114069573C>T	ENSP00000419153:p.Ser451Asn		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S451N	ENST00000474710.1	37	c.1352	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731610	0.69189	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.10192	2.93;2.93;2.93;2.93;2.9;2.93;2.93	5.41	5.41	0.78517	.	0.109013	0.64402	D	0.000001	T	0.12944	0.0314	L	0.27053	0.805	0.80722	D	1	P	0.51791	0.948	P	0.45610	0.487	T	0.01739	-1.1284	10	0.52906	T	0.07	.	19.1985	0.93699	0.0:1.0:0.0:0.0	.	451	Q9HC78	ZBT20_HUMAN	N	378;378;378;378;451;378;378	ENSP00000420324:S378N;ENSP00000377375:S378N;ENSP00000418092:S378N;ENSP00000419902:S378N;ENSP00000419153:S451N;ENSP00000349803:S378N;ENSP00000417307:S378N	ENSP00000349803:S378N	S	-	2	0	ZBTB20	115552263	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.900000	0.48687	2.546000	0.85860	0.557000	0.71058	AGC	ZBTB20	-	NULL	ENSG00000181722		0.547	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1		0	32	0	C	NM_015642		114069573	-1			no_errors	ENST00000474710	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	114069573	C	T	114069573	3	4	90	1	0	0	0	0	1	0	0	0	17577	797	28	3	881	3	ZBTB20	3	114069573	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	55220156	114069573	83952857	69	25804											
GOLGB1	2804	genome.wustl.edu	37	chr3	121417605	121417605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatctgcttcctcagcccTttttccctggagctgtaatt	6	16	7	12	0	2	1	1	1	1	0	4	2	4	2	3	1	3	3	3	1	1	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:121417605T>C	ENST00000340645.5	-	13	1875	c.1750A>G	c.(1750-1752)Agg>Ggg	p.R584G	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R589G	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	584					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R584G(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCCTCAGCCCTTTTTCCCTGG	0.363																																																	1	Substitution - Missense(1)	prostate(1)											82	85	84					3																	121417605		2203	4300	6503	SO:0001583	missense	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"macrogolgin", "golgi integral membrane protein 1"	602500	"golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1", "golgin B1, golgi integral membrane protein"			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1750A>G	3.37:g.121417605T>C	ENSP00000341848:p.Arg584Gly		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.R584G	ENST00000340645.5	37	c.1750	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	5.981	0.364872	0.11296	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235	T;T;T	0.23348	2.49;2.49;1.91	5.43	4.25	0.50352	.	0.457306	0.22595	N	0.058022	T	0.25901	0.0631	L	0.57536	1.79	0.09310	N	1	P;P;P;P;B	0.39480	0.493;0.675;0.675;0.675;0.287	B;B;B;B;B	0.39379	0.079;0.298;0.154;0.154;0.053	T	0.09530	-1.0670	10	0.35671	T	0.21	.	9.7072	0.40222	0.0:0.0:0.339:0.661	.	509;548;589;589;584	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	G	584;589;548;396	ENSP00000341848:R584G;ENSP00000377275:R589G;ENSP00000418231:R548G	ENSP00000341848:R584G	R	-	1	2	GOLGB1	122900295	0.528000	0.26314	0.695000	0.30226	0.589000	0.36550	1.134000	0.31442	1.033000	0.39918	0.533000	0.62120	AGG	GOLGB1	-	NULL	ENSG00000173230		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1		0	77	0	T	NM_004487		121417605	-1			no_errors	ENST00000340645	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.177	C	C	121417605	T	C	121417605	3	2	90	1	0	0	0	0	1	0	0	0	6591	1608	56	4	8069	4	GOLGB1	3	121417605	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	7348032	121417605	76604825	70	25805											
DTX3L	151636	genome.wustl.edu	37	chr3	122288127	122288127	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattactacaggagatatcAgagatcgaaaaaaggtatga	19	8	10	4	1	1	3	1	1	0	2	2	7	1	3	0	2	2	1	0	2	8	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:122288127A>G	ENST00000296161.4	+	3	1380	c.1191A>G	c.(1189-1191)tcA>tcG	p.S397S	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	397					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGGAGATATCAGAGATCGAAA	0.378																																																	0													60	62	62					3																	122288127		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"RING-type (C3HC4) zinc fingers"	30323	protein-coding gene	gene with protein product	"rhysin 2"	613143	"deltex 3-like (Drosophila)"			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.1191A>G	3.37:g.122288127A>G			B3KWH6|Q53ZZ3|Q5MJP7	Silent	SNP	smart_Znf_RING,pfscan_Znf_RING	p.S397	ENST00000296161.4	37	c.1191	CCDS3015.1	3																																																																																			DTX3L	-	NULL	ENSG00000163840		0.378	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	-	0	37	0	A	NM_138287		122288127	1	tier1	-	no_errors	ENST00000296161	ensembl	human	known	74_37	silent	31.48	37	17	SNP	0.172	G	G	122288127	A	G	122288127	2	3	90	1	0	0	0	0	0	0	0	1	4810	175	7	4		4	DTX3L	3	122288127	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	870522	122288127	75734303	71	25806											
ASTE1	28990	genome.wustl.edu	37	chr3	130733046	130733047	+	Frame_Shift_Ins	INS	-	-	T																															ggtattctgtttcttctgccINStttttttttttgaatttgat																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:130733046_130733047insT	ENST00000264992.3	-	6	2335_2336	c.1894_1895insA	c.(1894-1896)aggfs	p.R632fs	ASTE1_ENST00000514044.1_Frame_Shift_Ins_p.R657fs|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTTCTTCTGCCTTTTTTTTTTT	0.406																																																	2	Deletion - Frameshift(2)	ovary(2)																																								SO:0001589	frameshift_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1895dupA	3.37:g.130733057_130733057dupT	ENSP00000264992:p.Arg632fs		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Ins	INS	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1895_1894	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.406	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0	26	0	-	NM_014065		130733047	-1	tier1		no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_ins	11.90	37	5	INS	0.003:0.014	T	T	130733047	-	T	130733046	7	5	90	1	0	1	1	0	0	0	0	0	1063	681	24	0	148	0	ASTE1	3	130733046	Frame_Shift_Ins	INS	-	TCGA-L5-A8NR-01A-11D-A37C-09	8444919	130733046	67289384	72	25807											
GMPS	8833	genome.wustl.edu	37	chr3	155637040	155637040	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggaaaagtaatagaacctCtgaaagattttcataaagat	19	10	8	4	0	2	4	1	1	1	3	2	5	2	5	1	1	1	1	1	1	8	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:155637040C>G	ENST00000496455.2	+	10	1566	c.1231C>G	c.(1231-1233)Ctg>Gtg	p.L411V	GMPS_ENST00000295920.7_Missense_Mutation_p.L312V	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	411	GMPS ATP-PPase. {ECO:0000255|PROSITE- ProRule:PRU00886}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	AATAGAACCTCTGAAAGATTT	0.358			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)			Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	0													45	44	44					3																	155637040		1799	4066	5865	SO:0001583	missense	0			U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"GMP synthase"	600358	"guanine monphosphate synthetase"			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1231C>G	3.37:g.155637040C>G	ENSP00000419851:p.Leu411Val		A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N	p.L411V	ENST00000496455.2	37	c.1231	CCDS46941.1	3	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378732	0.61735	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.41	-0.144	0.13440	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.64402	D	0.000003	T	0.75925	0.3916	M	0.84948	2.725	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69307	0.963;0.918	T	0.74306	-0.3708	9	0.72032	D	0.01	-8.5909	9.3646	0.38217	0.0:0.4949:0.0:0.5051	.	312;411	F8W720;P49915	.;GUAA_HUMAN	V	411;312;360;411	.	ENSP00000295920:L312V	L	+	1	2	GMPS	157119734	0.995000	0.38212	0.957000	0.39632	0.982000	0.71751	2.576000	0.46033	-0.373000	0.07979	-0.373000	0.07131	CTG	GMPS	-	NULL	ENSG00000163655		0.358	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPS	HGNC	protein_coding	OTTHUMT00000351260.2	-	0	64	0	C			155637040	1	tier1	-	no_errors	ENST00000496455	ensembl	human	known	74_37	missense	17.50	66	14	SNP	0.981	G	G	155637040	C	G	155637040	3	3	90	1	0	0	0	0	1	0	0	0	6524	912	32	5	1269	5	GMPS	3	155637040	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	24903994	155637040	42385390	73	25808											
SKIL	6498	genome.wustl.edu	37	chr3	170078555	170078555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctccacagaactcactCagactgtgttggaaggggaa	13	8	11	9	0	2	2	2	0	0	2	3	4	3	4	1	3	2	2	1	3	4	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:170078555C>A	ENST00000458537.3	+	1	1145	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	SKIL_ENST00000413427.2_Missense_Mutation_p.Q146K|SKIL_ENST00000259119.4_Missense_Mutation_p.Q146K|SKIL_ENST00000426052.2_Missense_Mutation_p.Q126K	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	146					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGAACTCACTCAGACTGTGTT	0.453																																																	0													159	170	166					3																	170078555		2203	4300	6503	SO:0001583	missense	0			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"SKI transcriptional corepressors"	10897	protein-coding gene	gene with protein product		165340	"SKI-like oncogene"			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.436C>A	3.37:g.170078555C>A	ENSP00000415243:p.Gln146Lys		A6NGT1|B4DT50|O00464|P12756|Q07501	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.Q146K	ENST00000458537.3	37	c.436	CCDS33890.1	3	.	.	.	.	.	.	.	.	.	.	C	15.51	2.856370	0.51376	.	.	ENSG00000136603	ENST00000259119;ENST00000426052;ENST00000413427;ENST00000458537	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.64	5.64	0.86602	DNA binding domain, putative (1);Transforming protein Ski (2);	0.051478	0.85682	D	0.000000	D	0.83862	0.5346	N	0.19112	0.55	0.48135	D	0.999597	P;D	0.61080	0.7;0.989	B;P	0.61070	0.261;0.883	T	0.82564	-0.0394	10	0.31617	T	0.26	-12.3262	19.7556	0.96287	0.0:1.0:0.0:0.0	.	146;146	P12757-3;P12757	.;SKIL_HUMAN	K	146;126;146;146	ENSP00000259119:Q146K;ENSP00000406520:Q126K;ENSP00000400193:Q146K;ENSP00000415243:Q146K	ENSP00000259119:Q146K	Q	+	1	0	SKIL	171561249	1.000000	0.71417	0.999000	0.59377	0.675000	0.39556	5.731000	0.68554	2.682000	0.91365	0.579000	0.79373	CAG	SKIL	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000136603		0.453	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	-	0	36	0	C	NM_005414		170078555	1	tier1	-	no_errors	ENST00000259119	ensembl	human	known	74_37	missense	18.87	43	10	SNP	1.000	A	A	170078555	C	A	170078555	3	1	90	1	0	0	0	0	1	0	0	0	14403	827	29	3	438	3	SKIL	3	170078555	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	14441515	170078555	27943875	74	25809											
ATP13A3	79572	genome.wustl.edu	37	chr3	194126666	194126666	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctatgttatggtgatgatTtgacatgatccattctcctt	8	18	8	7	0	1	4	0	4	1	0	3	4	2	4	2	1	1	2	2	1	2	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr3:194126666T>A	ENST00000439040.1	-	33	4454	c.3663A>T	c.(3661-3663)caA>caT	p.Q1221H	ATP13A3_ENST00000256031.4_Missense_Mutation_p.Q1221H			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1221						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGGTGATGATTTGACATGATC	0.423																																																	0													264	242	249					3																	194126666		1991	4172	6163	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3663A>T	3.37:g.194126666T>A	ENSP00000416508:p.Gln1221His		Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.Q1221H	ENST00000439040.1	37	c.3663	CCDS43187.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.45|15.45	2.837738|2.837738	0.50951|0.50951	.|.	.|.	ENSG00000133657|ENSG00000133657	ENST00000429136|ENST00000439040;ENST00000256031	.|D;D	.|0.86497	.|-2.13;-2.13	5.78|5.78	-6.26|-6.26	0.02033|0.02033	.|.	.|0.240692	.|0.42821	.|D	.|0.000648	D|D	0.85592|0.85592	0.5732|0.5732	L|L	0.27053|0.27053	0.805|0.805	0.40683|0.40683	D|D	0.982322|0.982322	.|D	.|0.71674	.|0.998	.|D	.|0.79784	.|0.993	D|D	0.84704|0.84704	0.0730|0.0730	5|10	.|0.72032	.|D	.|0.01	-10.2813|-10.2813	13.0405|13.0405	0.58897|0.58897	0.0:0.1518:0.0891:0.7591|0.0:0.1518:0.0891:0.7591	.|.	.|1221	.|Q9H7F0	.|AT133_HUMAN	Y|H	157|1221	.|ENSP00000416508:Q1221H;ENSP00000256031:Q1221H	.|ENSP00000256031:Q1221H	N|Q	-|-	1|3	0|2	ATP13A3|ATP13A3	195607955|195607955	0.997000|0.997000	0.39634|0.39634	0.809000|0.809000	0.32408|0.32408	0.393000|0.393000	0.30537|0.30537	0.316000|0.316000	0.19469|0.19469	-1.079000|-1.079000	0.03113|0.03113	-0.993000|-0.993000	0.02533|0.02533	AAT|CAA	ATP13A3	-	NULL	ENSG00000133657		0.423	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	-	0	81	0	T	NM_024524		194126666	-1	tier1	-	no_errors	ENST00000256031	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.408	A	A	194126666	T	A	194126666	3	1	90	1	0	0	0	0	1	0	0	0	1126	1838	64	5	21	5	ATP13A3	3	194126666	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	24048111	194126666	3895764	75	25810											
BOD1L	259282	genome.wustl.edu	37	chr4	13604828	13604828	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacagtttcagaatctatAttcacttcagtagttcctct	11	16	5	9	0	5	2	3	1	2	1	6	2	6	2	1	0	1	3	1	0	5	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:13604828A>G	ENST00000040738.5	-	10	3831	c.3696T>C	c.(3694-3696)aaT>aaC	p.N1232N		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1232						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAGAATCTATATTCACTTCAG	0.388																																																	0													113	115	114					4																	13604828		2203	4300	6503	SO:0001819	synonymous_variant	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3696T>C	4.37:g.13604828A>G			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	NULL	p.N1232	ENST00000040738.5	37	c.3696	CCDS3411.2	4																																																																																			BOD1L1	-	NULL	ENSG00000038219		0.388	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	61	0	A	NM_148894		13604828	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	silent	44.00	28	22	SNP	0.114	G	G	13604828	A	G	13604828	2	3	90	1	0	0	0	0	0	0	0	1	1485	446	16	4		4	BOD1L	4	13604828	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09		13604828	177549448	76	25811											
N4BP2	55728	genome.wustl.edu	37	chr4	40124821	40124821	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcatgagaaatggaaaGaatctgtaatggttggtagg	14	12	13	2	0	2	3	1	2	1	2	2	5	2	4	0	4	0	3	0	4	5	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:40124821G>T	ENST00000261435.6	+	10	4689	c.4273G>T	c.(4273-4275)Gaa>Taa	p.E1425*		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1425					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAATGGAAAGAATCTGTAAT	0.383																																																	0													130	134	133					4																	40124821		2203	4300	6503	SO:0001587	stop_gained	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"BCL-3 binding protein"					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4273G>T	4.37:g.40124821G>T	ENSP00000261435:p.Glu1425*		A0AVR3|Q9NVK2|Q9P2D4	Nonsense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.E1425*	ENST00000261435.6	37	c.4273	CCDS3457.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.150654|7.150654	0.98096|0.98096	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.195639|.	0.44097|.	D|.	0.000498|.	.|T	.|0.75939	.|0.3918	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74881	.|-0.3513	.|3	0.72032|.	D|.	0.01|.	-12.6705|-12.6705	19.0678|19.0678	0.93119|0.93119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1425;1345|1071	.|.	ENSP00000261435:E1425X|.	E|R	+|+	1|2	0|0	N4BP2|N4BP2	39801216|39801216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.253000|0.253000	0.25986|0.25986	8.444000|8.444000	0.90323|0.90323	2.494000|2.494000	0.84150|0.84150	0.591000|0.591000	0.81541|0.81541	GAA|AGA	N4BP2	-	NULL	ENSG00000078177		0.383	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2		0	78	0	G	NM_018177		40124821	1			no_errors	ENST00000261435	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	1.000	T	T	40124821	G	T	40124821	4	4	90	1	0	0	0	0	0	1	0	0	10148	943	33	3	4303	3	N4BP2	4	40124821	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	26519993	40124821	151029455	77	25812											
SHROOM3	57619	genome.wustl.edu	37	chr4	77662000	77662000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctccgtagccagagcaccTtccagctctccagcgagcca	8	7	8	18	2	1	1	0	0	1	1	5	2	4	1	7	0	5	3	7	0	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:77662000T>G	ENST00000296043.6	+	5	3627	c.2674T>G	c.(2674-2676)Ttc>Gtc	p.F892V		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	892					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCAGAGCACCTTCCAGCTCTC	0.731																																																	0													8	11	10					4																	77662000		2145	4212	6357	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2674T>G	4.37:g.77662000T>G	ENSP00000296043:p.Phe892Val		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F892V	ENST00000296043.6	37	c.2674	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	t	16.24	3.068228	0.55539	.	.	ENSG00000138771	ENST00000296043	T	0.39056	1.1	5.25	2.8	0.32819	Apx/shroom, ASD1 (1);	3.328180	0.00772	N	0.001213	T	0.46190	0.1380	L	0.41236	1.265	0.32028	N	0.599922	P;P;P	0.43578	0.811;0.811;0.811	P;P;P	0.46419	0.516;0.516;0.516	T	0.30966	-0.9960	10	0.72032	D	0.01	-5.6817	8.2491	0.31706	0.0:0.1576:0.0:0.8424	.	716;892;670	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	V	892	ENSP00000296043:F892V	ENSP00000296043:F892V	F	+	1	0	SHROOM3	77881024	0.974000	0.33945	0.940000	0.37924	0.932000	0.56968	1.646000	0.37249	0.317000	0.23160	0.456000	0.33151	TTC	SHROOM3	-	pfam_ASD1	ENSG00000138771		0.731	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2		0	23	0	T	NM_020859		77662000	1			no_errors	ENST00000296043	ensembl	human	known	74_37	missense	37.50	5	3	SNP	0.863	G	G	77662000	T	G	77662000	3	3	90	1	0	0	0	0	1	0	0	0	14340	1609	56	4	2692	4	SHROOM3	4	77662000	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	37537179	77662000	113492276	78	25813											
PTPN13	5783	genome.wustl.edu	37	chr4	87622936	87622936	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaacttcaggttctgaggGaagccatgaatgtagaaggt	14	9	13	5	0	2	4	1	2	1	2	2	5	2	5	1	3	2	2	1	3	5	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:87622936G>T	ENST00000411767.2	+	7	1240	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*	PTPN13_ENST00000427191.2_Nonsense_Mutation_p.E393*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.E393*|PTPN13_ENST00000436978.1_Nonsense_Mutation_p.E393*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.E393*			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	393					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGTTCTGAGGGAAGCCATGAA	0.353																																																	0													40	38	39					4																	87622936		1841	4090	5931	SO:0001587	stop_gained	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1177G>T	4.37:g.87622936G>T	ENSP00000407249:p.Glu393*		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Nonsense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E393*	ENST00000411767.2	37	c.1177	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	43	9.915973	0.99294	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	.	.	.	6.03	5.15	0.70609	.	0.120487	0.36778	N	0.002418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.2451	0.60018	0.0797:0.0:0.9203:0.0	.	.	.	.	X	393;393;393;393;393;361	.	ENSP00000322675:E393X	E	+	1	0	PTPN13	87841960	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.074000	0.64401	1.469000	0.48083	0.655000	0.94253	GAA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.353	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	60	0	G			87622936	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	nonsense	28.00	36	14	SNP	1.000	T	T	87622936	G	T	87622936	4	4	90	1	0	0	0	0	0	1	0	0	12825	1175	41	3	1199	3	PTPN13	4	87622936	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	9960936	87622936	103531340	79	25814											
PTPN13	5783	genome.wustl.edu	37	chr4	87694054	87694054	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttctgaaccaactagacaAgaaaactggacacctttgaa	17	9	6	9	0	1	4	0	2	1	2	1	5	1	5	2	1	3	0	2	1	7	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:87694054A>T	ENST00000411767.2	+	32	5355	c.5292A>T	c.(5290-5292)caA>caT	p.Q1764H	PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1745H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1573H|PTPN13_ENST00000436978.1_Missense_Mutation_p.Q1769H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1769H			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1764					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CAACTAGACAAGAAAACTGGA	0.343																																																	0													86	83	84					4																	87694054		1824	4074	5898	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.5292A>T	4.37:g.87694054A>T	ENSP00000407249:p.Gln1764His		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Q1769H	ENST00000411767.2	37	c.5307	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	A	12.67	2.006833	0.35415	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.53206	0.63;0.63;0.74;0.63;0.63	5.77	-0.954	0.10359	PDZ/DHR/GLGF (1);	0.484785	0.17349	N	0.177442	T	0.39036	0.1063	L	0.40543	1.245	0.09310	N	1	B;P;P;P	0.44309	0.001;0.828;0.832;0.738	B;P;B;B	0.46940	0.001;0.532;0.332;0.413	T	0.27640	-1.0068	10	0.51188	T	0.08	.	5.9547	0.19267	0.4717:0.0:0.4005:0.1278	.	1573;1745;1764;1769	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	H	1745;1769;1573;1764;1769;1713	ENSP00000408368:Q1745H;ENSP00000394794:Q1769H;ENSP00000322675:Q1573H;ENSP00000407249:Q1764H;ENSP00000426626:Q1769H	ENSP00000322675:Q1573H	Q	+	3	2	PTPN13	87913078	0.844000	0.29557	0.049000	0.19019	0.328000	0.28507	1.167000	0.31847	-0.368000	0.08040	0.455000	0.32223	CAA	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ	ENSG00000163629		0.343	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	60	0	A			87694054	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	missense	34.00	33	17	SNP	0.054	T	T	87694054	A	T	87694054	3	4	90	1	0	0	0	0	1	0	0	0	12825	69	3	5	5429	5	PTPN13	4	87694054	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	71118	87694054	103460222	80	25815											
C4orf31	79625	genome.wustl.edu	37	chr4	121958330	121958330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctttgcctggaaactgcGttctttacctgaattatcag	9	14	9	9	1	2	1	1	1	1	0	2	2	2	2	2	2	4	2	2	2	4	5	rs201775943		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:121958330G>A	ENST00000379692.4	-	4	1322	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	266	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGGAAACTGCGTTCTTTACCT	0.453																																																	0								G	CYS/ARG	0,4406		0,0,2203	86	86	86		796	4.9	0.3	4		86	2,8598	2.2+/-6.3	0,2,4298	no	missense	NDNF	NM_024574.3	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	266/569	121958330	2,13004	2203	4300	6503	SO:0001583	missense	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 31"	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.796C>T	4.37:g.121958330G>A	ENSP00000369014:p.Arg266Cys		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.R266C	ENST00000379692.4	37	c.796	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840538	0.32513	0.0	2.33E-4	ENSG00000173376	ENST00000379692	.	.	.	5.77	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.78473	-0.2190	9	0.66056	D	0.02	-11.6756	16.2534	0.82498	0.0:0.0:0.8669:0.1331	.	266	Q8TB73	NDNF_HUMAN	C	266	.	ENSP00000369014:R266C	R	-	1	0	NDNF	122177780	1.000000	0.71417	0.318000	0.25279	0.032000	0.12392	6.107000	0.71517	2.715000	0.92844	0.655000	0.94253	CGC	NDNF	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000173376		0.453	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	-	0	31	0	G	NM_024574		121958330	-1	tier1	-	no_errors	ENST00000379692	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.971	A	A	121958330	G	A	121958330	3	1	90	1	0	0	0	0	1	0	0	0	2268	1145	40	1	914	1	C4orf31	4	121958330	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	34264276	121958330	69195946	81	25816											
FAT4	79633	genome.wustl.edu	37	chr4	126238058	126238058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgccaccgactcggacatCggctcaaacggtgtggacca	10	5	11	15	5	1	0	1	0	0	0	3	3	1	2	4	4	1	1	4	4	1	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:126238058C>T	ENST00000394329.3	+	1	505	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCGGACATCGGCTCAAACG	0.627											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35	39	38					4																	126238058		2078	4204	6282	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.492C>T	4.37:g.126238058C>T		1548	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I164	ENST00000394329.3	37	c.492	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.627	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	38	0	C	NM_024582		126238058	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	35.00	13	7	SNP	1.000	T	T	126238058	C	T	126238058	2	4	90	1	0	0	0	0	0	0	0	1	5714	874	31	1		1	FAT4	4	126238058	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	4279728	126238058	64916218	82	25817											
FAT4	79633	genome.wustl.edu	37	chr4	126412644	126412644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatggagccagactgaaGcctcgaaggtaccacggtcg	12	7	12	10	3	0	2	0	1	0	1	2	4	0	3	3	3	3	1	3	3	5	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:126412644G>T	ENST00000394329.3	+	17	14680	c.14667G>T	c.(14665-14667)aaG>aaT	p.K4889N	FAT4_ENST00000335110.5_Missense_Mutation_p.K3130N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4889					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGACTGAAGCCTCGAAGGT	0.527																																																	0													59	59	59					4																	126412644		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14667G>T	4.37:g.126412644G>T	ENSP00000377862:p.Lys4889Asn		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.K4889N	ENST00000394329.3	37	c.14667	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	9.601	1.128798	0.21041	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76578	-0.84;-1.03	5.19	2.42	0.29668	.	0.000000	0.35805	U	0.002980	T	0.79112	0.4391	L	0.51422	1.61	0.44677	D	0.99766	D;D;P	0.61697	0.99;0.983;0.944	P;P;P	0.57152	0.814;0.521;0.714	T	0.76597	-0.2901	10	0.66056	D	0.02	.	8.5626	0.33520	0.2628:0.0:0.7372:0.0	.	3130;4889;4888	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4889;3130	ENSP00000377862:K4889N;ENSP00000335169:K3130N	ENSP00000335169:K3130N	K	+	3	2	FAT4	126632094	1.000000	0.71417	0.991000	0.47740	0.151000	0.21798	4.347000	0.59373	0.170000	0.19704	0.491000	0.48974	AAG	FAT4	-	NULL	ENSG00000196159		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0	44	0	G	NM_024582		126412644	1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	T	T	126412644	G	T	126412644	3	4	90	1	0	0	0	0	1	0	0	0	5714	962	34	3	14733	3	FAT4	4	126412644	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	174586	126412644	64741632	83	25818											
SH3D19	152503	genome.wustl.edu	37	chr4	152048838	152048838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttggccttcctccccttcgGtactatggccaacatacttt	6	15	6	14	1	0	0	0	0	0	0	3	0	2	0	5	3	3	1	5	3	4	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:152048838G>T	ENST00000409252.2	-	19	2895	c.2188C>A	c.(2188-2190)Ccg>Acg	p.P730T	SH3D19_ENST00000427414.2_Missense_Mutation_p.P671T|SH3D19_ENST00000409598.4_Missense_Mutation_p.P707T|SH3D19_ENST00000424281.1_Missense_Mutation_p.P671T|SH3D19_ENST00000455740.1_Missense_Mutation_p.P707T|SH3D19_ENST00000514152.1_Missense_Mutation_p.P707T|SH3D19_ENST00000304527.4_Missense_Mutation_p.P730T			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	730	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CTCCCCTTCGGTACTATGGCC	0.358																																																	0													77	69	71					4																	152048838		2203	4300	6503	SO:0001583	missense	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2188C>A	4.37:g.152048838G>T	ENSP00000386848:p.Pro730Thr		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.P730T	ENST00000409252.2	37	c.2188	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	G	4.706	0.131309	0.08981	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.84	4.1	0.47936	Src homology-3 domain (2);	1.250850	0.05702	N	0.594363	T	0.24812	0.0602	L	0.43923	1.385	0.09310	N	1	B;B;B;B	0.12013	0.0;0.005;0.0;0.004	B;B;B;B	0.15052	0.002;0.012;0.009;0.005	T	0.35871	-0.9771	10	0.13108	T	0.6	15.4916	4.2705	0.10783	0.0761:0.1452:0.513:0.2657	.	730;707;671;485	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	T	707;730;707;671;671;730;707	ENSP00000387030:P707T;ENSP00000302913:P730T;ENSP00000416708:P707T;ENSP00000404542:P671T;ENSP00000415694:P671T;ENSP00000386848:P730T;ENSP00000423449:P707T	ENSP00000302913:P730T	P	-	1	0	SH3D19	152268288	.	.	0.009000	0.14445	0.079000	0.17450	.	.	0.779000	0.33543	0.591000	0.81541	CCG	SH3D19	-	superfamily_SH3_domain,pfscan_SH3_domain	ENSG00000109686		0.358	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	-	0	148	0	G	NM_001009555		152048838	-1	tier1	-	no_errors	ENST00000304527	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.008	T	T	152048838	G	T	152048838	3	4	90	1	0	0	0	0	1	0	0	0	14294	1261	44	3	192	3	SH3D19	4	152048838	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	25636194	152048838	39105438	84	25819											
PDGFC	56034	genome.wustl.edu	37	chr4	157688963	157688963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttgcttgggacacattGacattcattgcaattgtgga	11	14	9	7	0	1	1	1	1	0	0	1	3	1	3	0	2	3	2	0	2	2	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:157688963G>T	ENST00000502773.1	-	5	1373	c.883C>A	c.(883-885)Caa>Aaa	p.Q295K	PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.Q132K|PDGFC_ENST00000542208.1_Missense_Mutation_p.Q140K|PDGFC_ENST00000504672.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	295					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.Q295*(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGGACACATTGACATTCATTG	0.403																																																	1	Substitution - Nonsense(1)	cervix(1)											135	125	128					4																	157688963		2203	4300	6503	SO:0001583	missense	0			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.883C>A	4.37:g.157688963G>T	ENSP00000422464:p.Gln295Lys		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.Q295K	ENST00000502773.1	37	c.883	CCDS3795.1	4	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382813	0.61845	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.44881	2.48;0.92;0.91	5.56	5.56	0.83823	Platelet-derived growth factor (PDGF) (3);	0.115412	0.64402	D	0.000012	T	0.47893	0.1470	L	0.57536	1.79	0.80722	D	1	B;B	0.26975	0.165;0.165	B;B	0.33846	0.171;0.109	T	0.42032	-0.9475	10	0.46703	T	0.11	-4.7334	19.5347	0.95244	0.0:0.0:1.0:0.0	.	140;295	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	K	295;132;140	ENSP00000422464:Q295K;ENSP00000442943:Q132K;ENSP00000439728:Q140K	ENSP00000422464:Q295K	Q	-	1	0	PDGFC	157908413	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.854000	0.86942	2.617000	0.88574	0.650000	0.86243	CAA	PDGFC	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000145431		0.403	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFC	HGNC	protein_coding	OTTHUMT00000366123.1	-	0	68	0	G			157688963	-1	tier1	-	no_errors	ENST00000502773	ensembl	human	known	74_37	missense	65.48	29	55	SNP	1.000	T	T	157688963	G	T	157688963	3	4	90	1	0	0	0	0	1	0	0	0	11698	1299	45	3	162	3	PDGFC	4	157688963	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	5640125	157688963	33465313	85	25820											
TMEM144	55314	genome.wustl.edu	37	chr4	159133894	159133894	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccttttgtttggctcaaaTtttgtgccacttaaaaaatt	11	18	5	7	0	1	0	1	0	0	0	2	0	2	0	2	1	1	2	2	1	4	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:159133894T>G	ENST00000296529.6	+	3	595	c.75T>G	c.(73-75)aaT>aaG	p.N25K	TMEM144_ENST00000514558.1_Missense_Mutation_p.N25K|TMEM144_ENST00000509278.1_Missense_Mutation_p.N25K	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	25						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TTGGCTCAAATTTTGTGCCAC	0.328																																																	0													167	147	154					4																	159133894		2203	4300	6503	SO:0001583	missense	0			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.75T>G	4.37:g.159133894T>G	ENSP00000296529:p.Asn25Lys		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	pfam_DUF1632_TMEM144,pfam_Sugar_transport	p.N25K	ENST00000296529.6	37	c.75	CCDS3799.1	4	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471936	0.63737	.	.	ENSG00000164124	ENST00000505049;ENST00000505189;ENST00000508243;ENST00000296529;ENST00000512481;ENST00000504569;ENST00000509278;ENST00000514558;ENST00000503200;ENST00000502698;ENST00000514971	T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.57	-0.946	0.10385	.	0.201699	0.50627	D	0.000107	T	0.57388	0.2050	M	0.85373	2.75	0.46749	D	0.99918	D	0.71674	0.998	D	0.69142	0.962	T	0.54370	-0.8304	10	0.29301	T	0.29	-2.0548	6.9524	0.24552	0.0:0.4176:0.1148:0.4676	.	25	Q7Z5S9	TM144_HUMAN	K	25	ENSP00000425266:N25K;ENSP00000421289:N25K;ENSP00000422297:N25K;ENSP00000296529:N25K;ENSP00000424659:N25K;ENSP00000422082:N25K;ENSP00000425815:N25K;ENSP00000426211:N25K;ENSP00000420990:N25K;ENSP00000425907:N25K;ENSP00000422899:N25K	ENSP00000296529:N25K	N	+	3	2	TMEM144	159353344	0.993000	0.37304	0.461000	0.27105	0.970000	0.65996	0.216000	0.17585	-0.279000	0.09167	-0.408000	0.06270	AAT	TMEM144	-	pfam_DUF1632_TMEM144	ENSG00000164124		0.328	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM144	HGNC	protein_coding	OTTHUMT00000365597.1	-	0	81	0	T	NM_018342		159133894	1	tier1	-	no_errors	ENST00000296529	ensembl	human	known	74_37	missense	21.79	61	17	SNP	0.967	G	G	159133894	T	G	159133894	3	3	90	1	0	0	0	0	1	0	0	0	16105	1490	52	4	77	4	TMEM144	4	159133894	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	1444931	159133894	32020382	86	25821											
ODZ3	55714	genome.wustl.edu	37	chr4	183268007	183268007	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatcaggccgcagctccTgcctgtcaagtcggtccaac	9	8	9	15	2	3	0	3	0	0	0	6	0	5	0	4	2	3	2	4	2	3	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr4:183268007T>C	ENST00000511685.1	+	3	559	c.436T>C	c.(436-438)Tgc>Cgc	p.C146R	TENM3_ENST00000406950.2_Missense_Mutation_p.C146R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	146	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCGCAGCTCCTGCCTGTCAAG	0.517																																																	0													59	64	62					4																	183268007		2014	4195	6209	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.436T>C	4.37:g.183268007T>C	ENSP00000424226:p.Cys146Arg		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.C146R	ENST00000511685.1	37	c.436	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	T	14.70	2.612349	0.46631	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.36157	1.27;1.27;1.27	4.58	4.58	0.56647	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.50377	0.1612	L	0.39397	1.21	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.87578	0.998;0.829	T	0.50268	-0.8848	9	0.51188	T	0.08	.	14.4103	0.67111	0.0:0.0:0.0:1.0	.	146;146	D6RGC5;Q9P273	.;TEN3_HUMAN	R	146	ENSP00000421320:C146R;ENSP00000424226:C146R;ENSP00000385276:C146R	ENSP00000385276:C146R	C	+	1	0	ODZ3	183505001	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.825000	0.86693	2.047000	0.60756	0.460000	0.39030	TGC	TENM3	-	pfam_Ten_N	ENSG00000218336		0.517	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	53	0	T			183268007	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	26.32	28	10	SNP	1.000	C	C	183268007	T	C	183268007	3	2	90	1	0	0	0	0	1	0	0	0	10875	1580	55	4	442	4	ODZ3	4	183268007	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	24134113	183268007	7886269	87	25822											
ADCY2	108	genome.wustl.edu	37	chr5	7707876	7707876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggcgcttataaagtggaGgagggagatggtgacattag	13	9	16	3	1	0	2	0	1	0	1	0	5	0	4	0	5	0	1	0	5	5	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:7707876G>T	ENST00000338316.4	+	9	1415	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.E262D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	442					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAAAGTGGAGGAGGGAGATG	0.403																																																	0													128	127	127					5																	7707876		2203	4300	6503	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"Adenylate cyclases"	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1326G>T	5.37:g.7707876G>T	ENSP00000342952:p.Glu442Asp		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.E442D	ENST00000338316.4	37	c.1326	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351971	0.82132	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	D;D	0.81739	-1.53;-1.53	5.96	-0.763	0.11030	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	M	0.80616	2.505	0.35202	D	0.774409	D;D	0.67145	0.965;0.996	P;D	0.70016	0.88;0.967	D	0.88082	0.2807	10	0.87932	D	0	.	10.1998	0.43075	0.5905:0.0:0.4095:0.0	.	262;442	B7Z2C1;Q08462	.;ADCY2_HUMAN	D	442;293;262	ENSP00000342952:E442D;ENSP00000444803:E262D	ENSP00000342952:E442D	E	+	3	2	ADCY2	7760876	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	1.864000	0.39469	-0.057000	0.13199	0.650000	0.86243	GAG	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000078295		0.403	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2		0	60	0	G	NM_020546		7707876	1			no_errors	ENST00000338316	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.991	T	T	7707876	G	T	7707876	3	4	90	1	0	0	0	0	1	0	0	0	294	991	35	3	1360	3	ADCY2	5	7707876	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		7707876	173207384	88	25823											
RNASEN	29102	genome.wustl.edu	37	chr5	31410883	31410883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgccaaggtcttggtgcGaagcgccacaggcctcttgg	6	8	14	13	3	2	0	0	0	2	0	3	1	3	0	4	4	2	0	4	4	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:31410883G>A	ENST00000511367.2	-	30	3881	c.3637C>T	c.(3637-3639)Cgc>Tgc	p.R1213C	DROSHA_ENST00000344624.3_Missense_Mutation_p.R1213C|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1176C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1176C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1213	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTCTTGGTGCGAAGCGCCACA	0.512																																																	0													136	144	141					5																	31410883		1994	4170	6164	SO:0001583	missense	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3637C>T	5.37:g.31410883G>A	ENSP00000425979:p.Arg1213Cys		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.R1213C	ENST00000511367.2	37	c.3637	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026101	0.75390	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.34	1.91	0.25777	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.87014	0.6072	M	0.77406	2.37	0.80722	D	1	D;P	0.89917	1.0;0.915	D;P	0.79784	0.993;0.65	D	0.88229	0.2902	10	0.87932	D	0	-14.711	15.2259	0.73352	0.0:0.0:0.7596:0.2404	.	1176;1213	E7EMP9;Q9NRR4	.;RNC_HUMAN	C	1213;1213;1176;1176;1138	ENSP00000425979:R1213C;ENSP00000339845:R1213C;ENSP00000409335:R1176C;ENSP00000424161:R1176C	ENSP00000265075:R1138C	R	-	1	0	DROSHA	31446640	0.998000	0.40836	0.495000	0.27527	0.980000	0.70556	2.585000	0.46111	0.384000	0.24942	0.484000	0.47621	CGC	DROSHA	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom	ENSG00000113360		0.512	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DROSHA	HGNC	protein_coding	OTTHUMT00000366561.3	-	0	64	0	G	NM_013235		31410883	-1	tier1	-	no_errors	ENST00000344624	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.941	A	A	31410883	G	A	31410883	3	1	90	1	0	0	0	0	1	0	0	0	13462	1058	37	1	511	1	RNASEN	5	31410883	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	23703007	31410883	149504377	89	25824											
C5orf23	4883	genome.wustl.edu	37	chr5	32789565	32789565	+	3'UTR	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccatcaacttgtcttttcTtgaaccacaggaatggttct	11	14	6	10	0	4	1	1	1	3	0	4	2	4	2	2	2	3	1	2	2	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:32789565T>G	ENST00000265074.8	+	0	5083				AC026703.1_ENST00000326958.1_Missense_Mutation_p.L20V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTGTCTTTTCTTGAACCACAG	0.413																																																	0													90	92	91					5																	32789565		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"guanylate cyclase C"	108962	"chromosome 5 open reading frame 23", "atrionatriuretic peptide receptor C", "natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)", "natriuretic peptide receptor C"	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3114T>G	5.37:g.32789565T>G			A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	NULL	p.L20V	ENST00000265074.8	37	c.58	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	T	6.489	0.458440	0.12342	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.58	-3.05	0.05396	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45716	-0.9242	5	0.87932	D	0	.	5.3208	0.15879	0.1494:0.3023:0.0:0.5483	.	.	.	.	V	20	.	ENSP00000318340:L20V	L	+	1	2	AC026703.1	32825322	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	0.031000	0.13710	-0.498000	0.06632	-1.531000	0.00922	TTG	AC026703.1	-	NULL	ENSG00000181495		0.413	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000181495	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000317550.3	-	0	51	0	T	NM_000908		32789565	1	tier1	-	no_errors	ENST00000326958	ensembl	human	novel	74_37	missense	28.12	23	9	SNP	0.000	G	G	32789565	T	G	32789565	1	3	90	0	1	0	0	0	0	0	0	0	2293	1606	56	4		4	C5orf23	5	32789565	3'UTR	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	1378682	32789565	148125695	90	25825											
ADAMTS12	81792	genome.wustl.edu	37	chr5	33576644	33576644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtcctcaggctgttctcTttcttcccctgagccactgt	3	17	7	14	0	3	1	1	1	2	0	6	1	5	1	4	1	1	2	4	1	0	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:33576644T>C	ENST00000504830.1	-	19	3822	c.3487A>G	c.(3487-3489)Aga>Gga	p.R1163G	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1078G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1163	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCTGTTCTCTTTCTTCCCCT	0.463										HNSCC(64;0.19)																																							0													170	155	160					5																	33576644		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3487A>G	5.37:g.33576644T>C	ENSP00000422554:p.Arg1163Gly		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1163G	ENST00000504830.1	37	c.3487	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	T	2.482	-0.319472	0.05386	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58506	0.33;0.33	5.18	1.42	0.22433	.	1.018500	0.07785	N	0.953960	T	0.31358	0.0794	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.19386	-1.0307	10	0.25751	T	0.34	.	5.1698	0.15105	0.0:0.1579:0.1518:0.6903	.	1078;1163	P58397-3;P58397	.;ATS12_HUMAN	G	1163;1078	ENSP00000422554:R1163G;ENSP00000344847:R1078G	ENSP00000344847:R1078G	R	-	1	2	ADAMTS12	33612401	0.732000	0.28121	0.001000	0.08648	0.285000	0.27093	1.371000	0.34250	0.093000	0.17368	0.533000	0.62120	AGA	ADAMTS12	-	NULL	ENSG00000151388		0.463	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0	26	0	T	NM_030955		33576644	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.003	C	C	33576644	T	C	33576644	3	2	90	1	0	0	0	0	1	0	0	0	257	1617	56	4	1321	4	ADAMTS12	5	33576644	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	787079	33576644	147338616	91	25826											
IL31RA	133396	genome.wustl.edu	37	chr5	55164734	55164734	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtacacagttaagagaacTtagtaagtacaggagcttgt	15	10	10	6	0	0	1	0	0	0	1	0	3	0	2	0	1	4	5	0	1	6	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:55164734T>G	ENST00000447346.2	+	3	335	c.270T>G	c.(268-270)acT>acG	p.T90T	IL31RA_ENST00000354961.4_Silent_p.T71T|IL31RA_ENST00000396834.1_Silent_p.T71T|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000359040.5_Silent_p.T90T|IL31RA_ENST00000396836.2_Silent_p.T90T|IL31RA_ENST00000297015.3_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	58	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTAAGAGAACTTAGTAAGTAC	0.413																																																	0													95	99	97					5																	55164734		2203	4300	6503	SO:0001819	synonymous_variant	0			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.270T>G	5.37:g.55164734T>G			A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Silent	SNP	pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T90	ENST00000447346.2	37	c.270	CCDS3970.2	5																																																																																			IL31RA	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000164509		0.413	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	-	0	62	0	T	NM_139017		55164734	1	tier1	-	no_errors	ENST00000447346	ensembl	human	known	74_37	silent	40.00	14	10	SNP	0.867	G	G	55164734	T	G	55164734	2	3	90	1	0	0	0	0	0	0	0	1	7718	1596	56	4		4	IL31RA	5	55164734	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	21588090	55164734	125750526	92	25827											
MAST4	375449	genome.wustl.edu	37	chr5	66385997	66385997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctttctctaggaaatagCcctcaagatagtccaagaaa	14	11	6	10	0	3	2	1	0	2	2	6	3	4	3	2	1	1	0	2	1	7	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:66385997C>T	ENST00000403625.2	+	6	1066	c.771C>T	c.(769-771)agC>agT	p.S257S	MAST4_ENST00000261569.7_Silent_p.S63S|MAST4_ENST00000405643.1_Silent_p.S75S|MAST4_ENST00000404260.3_Silent_p.S257S|MAST4_ENST00000403666.1_Silent_p.S68S|MAST4_ENST00000490016.2_Silent_p.S68S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	257						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TAGGAAATAGCCCTCAAGATA	0.363																																																	0													72	66	68					5																	66385997		1824	4081	5905	SO:0001819	synonymous_variant	0			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.771C>T	5.37:g.66385997C>T			A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.S257	ENST00000403625.2	37	c.771	CCDS54861.1	5																																																																																			MAST4	-	NULL	ENSG00000069020		0.363	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	-	0	105	0	C			66385997	1	tier1	-	no_errors	ENST00000404260	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	66385997	C	T	66385997	2	4	90	1	0	0	0	0	0	0	0	1	9365	738	26	3		3	MAST4	5	66385997	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	11221263	66385997	114529263	93	25828											
CD180	4064	genome.wustl.edu	37	chr5	66492452	66492452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaccacccaaaagaagcaGctgacgtcaaacgccatcac	16	3	7	15	2	2	2	2	1	0	1	2	2	2	2	3	0	4	3	3	0	4	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:66492452G>T	ENST00000256447.4	-	1	175	c.18C>A	c.(16-18)agC>agA	p.S6R		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	6					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AAAAGAAGCAGCTGACGTCAA	0.483																																																	0													161	163	162					5																	66492452		2203	4300	6503	SO:0001583	missense	0			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"CD molecules"	6726	protein-coding gene	gene with protein product		602226	"lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD", "CD180 antigen"	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.18C>A	5.37:g.66492452G>T	ENSP00000256447:p.Ser6Arg		B2R7Z7|Q32MM5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.S6R	ENST00000256447.4	37	c.18	CCDS3992.1	5	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328860	0.60743	.	.	ENSG00000134061	ENST00000256447	T	0.36157	1.27	4.99	3.22	0.36961	.	0.828452	0.11071	N	0.602873	T	0.32376	0.0827	M	0.65975	2.015	0.21473	N	0.999678	P	0.40476	0.718	B	0.33042	0.157	T	0.12268	-1.0554	10	0.34782	T	0.22	.	8.7655	0.34700	0.1759:0.0:0.8241:0.0	.	6	Q99467	CD180_HUMAN	R	6	ENSP00000256447:S6R	ENSP00000256447:S6R	S	-	3	2	CD180	66528208	0.216000	0.23585	0.334000	0.25495	0.064000	0.16182	1.127000	0.31357	0.823000	0.34589	0.591000	0.81541	AGC	CD180	-	NULL	ENSG00000134061		0.483	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD180	HGNC	protein_coding	OTTHUMT00000253973.2	-	0	62	0	G	NM_005582		66492452	-1	tier1	-	no_errors	ENST00000256447	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.652	T	T	66492452	G	T	66492452	3	4	90	1	0	0	0	0	1	0	0	0	2979	962	34	3	1979	3	CD180	5	66492452	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	106455	66492452	114422808	94	25829											
ZNF366	167465	genome.wustl.edu	37	chr5	71756569	71756569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggtggggcactgccagCgcttctgcgagccgcccacg	5	5	15	16	5	1	0	0	0	1	0	1	1	1	0	3	3	4	3	3	3	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:71756569C>T	ENST00000318442.5	-	2	1245	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	252					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCACTGCCAGCGCTTCTGCGA	0.627																																																	0													136	132	133					5																	71756569		2203	4300	6503	SO:0001583	missense	0			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"Zinc fingers, C2H2-type"	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.755G>A	5.37:g.71756569C>T	ENSP00000313158:p.Arg252His		Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R252H	ENST00000318442.5	37	c.755	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.163421	0.94727	.	.	ENSG00000178175	ENST00000318442	T	0.28454	1.61	5.94	5.94	0.96194	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.56834	0.2012	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.54689	-0.8256	10	0.72032	D	0.01	-58.2749	20.3633	0.98874	0.0:1.0:0.0:0.0	.	252	Q8N895	ZN366_HUMAN	H	252	ENSP00000313158:R252H	ENSP00000313158:R252H	R	-	2	0	ZNF366	71792325	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.790000	0.85794	2.826000	0.97356	0.561000	0.74099	CGC	ZNF366	-	NULL	ENSG00000178175		0.627	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	-	0	60	0	C			71756569	-1	tier1	-	no_errors	ENST00000318442	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	71756569	C	T	71756569	3	4	90	1	0	0	0	0	1	0	0	0	17918	768	27	1	1495	1	ZNF366	5	71756569	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	5264117	71756569	109158691	95	25830											
CHD1	1105	genome.wustl.edu	37	chr5	98233975	98233975	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcactttgcaatctttaaaAggagtggtttttgattggtt	9	18	9	5	0	2	1	1	1	1	0	2	2	2	2	0	3	1	3	0	3	3	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:98233975A>G	ENST00000284049.3	-	9	1499	c.1350T>C	c.(1348-1350)ccT>ccC	p.P450P		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	450	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AATCTTTAAAAGGAGTGGTTT	0.313																																																	0													73	74	73					5																	98233975		2202	4299	6501	SO:0001819	synonymous_variant	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1350T>C	5.37:g.98233975A>G			Q17RZ3	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P450	ENST00000284049.3	37	c.1350	CCDS34204.1	5																																																																																			CHD1	-	superfamily_P-loop_NTPase,pfscan_Chromo_domain/shadow	ENSG00000153922		0.313	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0	136	0	A	NM_001270		98233975	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	silent	20.25	63	16	SNP	0.997	G	G	98233975	A	G	98233975	2	3	90	1	0	0	0	0	0	0	0	1	3330	59	3	4		4	CHD1	5	98233975	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	26477406	98233975	82681285	96	25831											
APC	324	genome.wustl.edu	37	chr5	112177305	112177305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaagtaaacctcaagcatCaggctatgctcctaaatcat	15	9	5	12	0	3	0	3	0	0	0	4	0	4	0	3	1	3	4	3	1	7	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:112177305C>T	ENST00000457016.1	+	16	6394	c.6014C>T	c.(6013-6015)tCa>tTa	p.S2005L	APC_ENST00000508376.2_Missense_Mutation_p.S2005L|APC_ENST00000257430.4_Missense_Mutation_p.S2005L|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2005	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S2005*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCTCAAGCatcaggctatgct	0.408		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"E, M, O"	2	Substitution - Nonsense(1)|Unknown(1)	ovary(1)|skin(1)											81	80	80					5																	112177305		2200	4299	6499	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Armadillo repeat containing"	583	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 46"	611731	"adenomatosis polyposis coli"			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6014C>T	5.37:g.112177305C>T	ENSP00000413133:p.Ser2005Leu		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S2005L	ENST00000457016.1	37	c.6014	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953868	0.53293	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89939	-2.59;-2.59;-2.59	5.86	5.86	0.93980	.	0.293920	0.37577	N	0.002030	D	0.91402	0.7287	L	0.29908	0.895	0.50039	D	0.99984	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.89710	0.3911	9	.	.	.	-13.0943	20.1986	0.98248	0.0:1.0:0.0:0.0	.	2007;2005	Q4LE70;P25054	.;APC_HUMAN	L	2005	ENSP00000413133:S2005L;ENSP00000257430:S2005L;ENSP00000427089:S2005L	.	S	+	2	0	APC	112205204	1.000000	0.71417	0.994000	0.49952	0.922000	0.55478	3.601000	0.54059	2.781000	0.95711	0.650000	0.86243	TCA	APC	-	NULL	ENSG00000134982		0.408	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0	48	0	C	NM_000038		112177305	1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.832	T	T	112177305	C	T	112177305	3	4	90	1	0	0	0	0	1	0	0	0	763	838	29	3	6072	3	APC	5	112177305	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	13943330	112177305	68737955	97	25832											
KIF3A	11127	genome.wustl.edu	37	chr5	132051477	132051477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttctttttcagttcttcTatttctttctggaactgacg	6	20	6	9	1	6	1	1	1	5	0	6	2	6	2	0	1	2	2	0	1	2	8			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:132051477T>C	ENST00000378746.4	-	8	1319	c.1101A>G	c.(1099-1101)atA>atG	p.I367M	KIF3A_ENST00000378735.1_Missense_Mutation_p.I367M|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.I367M	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	367					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGTTCTTCTATTTCTTTCT	0.328																																																	0													68	66	67					5																	132051477		2203	4298	6501	SO:0001583	missense	0			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1101A>G	5.37:g.132051477T>C	ENSP00000368020:p.Ile367Met		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.I367M	ENST00000378746.4	37	c.1101	CCDS34235.1	5	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335924	0.60853	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.75154	-0.91;-0.91;-0.91	5.7	4.51	0.55191	.	0.092490	0.64402	D	0.000001	D	0.85013	0.5600	M	0.88241	2.94	0.80722	D	1	D;D;D;D	0.57571	0.98;0.98;0.98;0.98	D;D;D;D	0.64321	0.924;0.924;0.924;0.924	D	0.85057	0.0932	10	0.72032	D	0.01	.	7.2157	0.25959	0.2387:0.0:0.1203:0.6409	.	367;367;367;367	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	M	367;367;367;367;337	ENSP00000368020:I367M;ENSP00000368009:I367M;ENSP00000385808:I367M	ENSP00000368009:I367M	I	-	3	3	KIF3A	132079376	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.590000	0.23954	0.955000	0.37878	0.383000	0.25322	ATA	KIF3A	-	superfamily_P-loop_NTPase	ENSG00000131437		0.328	KIF3A-001	KNOWN	basic|CCDS	protein_coding	KIF3A	HGNC	protein_coding	OTTHUMT00000132788.3	-	0	60	0	T	NM_007054		132051477	-1	tier1	-	no_errors	ENST00000378735	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	C	C	132051477	T	C	132051477	3	2	90	1	0	0	0	0	1	0	0	0	8327	1512	53	4	1038	4	KIF3A	5	132051477	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	19874172	132051477	48863783	98	25833											
UQCRQ	27089	genome.wustl.edu	37	chr5	132203211	132203211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttatcttatctacacatgGgggactgaagagttcgagag	11	13	11	6	1	2	3	0	1	2	2	3	5	2	4	0	2	1	1	0	2	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:132203211G>T	ENST00000378670.3	+	3	327	c.186G>T	c.(184-186)tgG>tgT	p.W62C	UQCRQ_ENST00000378665.1_Missense_Mutation_p.W62C|GDF9_ENST00000296875.2_5'Flank|UQCRQ_ENST00000496429.1_3'UTR|UQCRQ_ENST00000378667.1_Missense_Mutation_p.W62C|GDF9_ENST00000464378.1_5'Flank|GDF9_ENST00000378673.2_5'Flank	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	62					cellular metabolic process (GO:0044237)|cerebellar Purkinje cell layer development (GO:0021680)|hippocampus development (GO:0021766)|hypothalamus development (GO:0021854)|midbrain development (GO:0030901)|pons development (GO:0021548)|pyramidal neuron development (GO:0021860)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|subthalamus development (GO:0021539)|thalamus development (GO:0021794)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain (GO:0070469)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTACACATGGGGGACTGAAG	0.393																																																	0													88	87	88					5																	132203211		2203	4300	6503	SO:0001583	missense	0			BC001390	CCDS34237.1	5q31.1	2011-07-04			ENSG00000164405	ENSG00000164405	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	29594	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit VII", "complex III subunit 8"	612080				15544925, 12709789, 2164842	Standard	NM_014402		Approved	QP-C, QCR8, UQCR7	uc003kya.1	O14949	OTTHUMG00000059836	ENST00000378670.3:c.186G>T	5.37:g.132203211G>T	ENSP00000367939:p.Trp62Cys		Q5FVE2|Q9BV88|Q9T2V7	Missense_Mutation	SNP	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8	p.W62C	ENST00000378670.3	37	c.186	CCDS34237.1	5	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144359	0.77888	.	.	ENSG00000164405	ENST00000378670;ENST00000378667;ENST00000378665	T;T;T	0.80123	-1.34;-1.34;-1.34	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.90515	0.7028	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91147	0.4950	9	0.87932	D	0	-51.0827	18.8846	0.92370	0.0:0.0:1.0:0.0	.	62	O14949	QCR8_HUMAN	C	62	ENSP00000367939:W62C;ENSP00000367936:W62C;ENSP00000367934:W62C	ENSP00000367934:W62C	W	+	3	0	UQCRQ	132231110	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	8.485000	0.90448	2.717000	0.92951	0.655000	0.94253	TGG	UQCRQ	-	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8	ENSG00000164405		0.393	UQCRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRQ	HGNC	protein_coding	OTTHUMT00000133040.1	-	0	54	0	G	NM_014402		132203211	1	tier1	-	no_errors	ENST00000378665	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	132203211	G	T	132203211	3	4	90	1	0	0	0	0	1	0	0	0	17073	1241	43	3	192	3	UQCRQ	5	132203211	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	151734	132203211	48712049	99	25834											
PCDHB12	56124	genome.wustl.edu	37	chr5	140590328	140590328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcccgggctattcggcGtgtgggcgcacaatggcgag	6	6	18	11	6	0	0	0	0	0	0	1	2	0	1	1	5	1	2	1	5	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:140590328G>A	ENST00000239450.2	+	1	2038	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V280M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	617	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTATTCGGCGTGTGGGCGCA	0.682																																																	0													10	13	12					5																	140590328		1690	3504	5194	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1849G>A	5.37:g.140590328G>A	ENSP00000239450:p.Val617Met		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V617M	ENST00000239450.2	37	c.1849	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966773	0.53507	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.59502	0.26;0.26	3.53	3.53	0.40419	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.72145	0.3424	M	0.77313	2.365	0.28923	N	0.892038	D	0.76494	0.999	D	0.72982	0.979	T	0.64609	-0.6367	9	0.72032	D	0.01	.	7.1407	0.25554	0.2143:0.0:0.7857:0.0	.	617	Q9Y5F1	PCDBC_HUMAN	M	280;617;237	ENSP00000440199:V280M;ENSP00000239450:V617M	ENSP00000239450:V617M	V	+	1	0	PCDHB12	140570512	0.015000	0.18098	0.970000	0.41538	0.976000	0.68499	1.775000	0.38584	1.678000	0.50952	0.479000	0.44913	GTG	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.682	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0	256	0	G	NM_018932		140590328	1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	missense	27.57	134	51	SNP	0.740	A	A	140590328	G	A	140590328	3	1	90	1	0	0	0	0	1	0	0	0	11576	1145	40	1	1851	1	PCDHB12	5	140590328	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	8387117	140590328	40324932	100	25835											
PCDHB12	56124	genome.wustl.edu	37	chr5	140590694	140590694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggacatctggtggacGtgagtggcaccgggaccctg	7	8	15	11	2	1	1	0	1	1	0	2	4	2	4	3	5	0	1	3	5	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:140590694G>A	ENST00000239450.2	+	1	2404	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V402M|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	739					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGTGGACGTGAGTGGCAC	0.607																																																	0													70	75	74					5																	140590694		2203	4300	6503	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2215G>A	5.37:g.140590694G>A	ENSP00000239450:p.Val739Met		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V739M	ENST00000239450.2	37	c.2215	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069174	0.36470	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.55234	0.53;0.68	3.4	2.48	0.30137	.	.	.	.	.	T	0.62865	0.2463	H	0.98155	4.16	0.19300	N	0.999974	B	0.34015	0.435	B	0.29598	0.104	T	0.65323	-0.6196	9	0.62326	D	0.03	.	5.4079	0.16332	0.1284:0.212:0.6596:0.0	.	739	Q9Y5F1	PCDBC_HUMAN	M	402;739;359	ENSP00000440199:V402M;ENSP00000239450:V739M	ENSP00000239450:V739M	V	+	1	0	PCDHB12	140570878	0.000000	0.05858	0.208000	0.23602	0.123000	0.20343	0.711000	0.25764	1.626000	0.50381	0.479000	0.44913	GTG	PCDHB12	-	NULL	ENSG00000120328		0.607	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0	123	0	G	NM_018932		140590694	1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	missense	28.74	62	25	SNP	0.600	A	A	140590694	G	A	140590694	3	1	90	1	0	0	0	0	1	0	0	0	11576	1145	40	1	2217	1	PCDHB12	5	140590694	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	366	140590694	40324566	101	25836											
DPYSL3	1809	genome.wustl.edu	37	chr5	146795411	146795411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcctcagtcaggctggaCtcaggctcaggcaccacatg	9	7	12	13	0	4	0	4	0	0	0	4	1	4	1	2	5	0	3	2	5	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:146795411C>T	ENST00000398514.3	-	4	710	c.339G>A	c.(337-339)gaG>gaA	p.E113E	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Silent_p.E227E	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	113					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGCTGGACTCAGGCTCAG	0.557																																																	0													167	165	165					5																	146795411		2099	4218	6317	SO:0001819	synonymous_variant	0			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.339G>A	5.37:g.146795411C>T			B3SXQ8|Q93012	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.E113	ENST00000398514.3	37	c.339	CCDS43381.1	5																																																																																			DPYSL3	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000113657		0.557	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL3	HGNC	protein_coding	OTTHUMT00000373421.2		0	43	0	C	NM_001387		146795411	-1			no_errors	ENST00000398514	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.999	T	T	146795411	C	T	146795411	2	4	90	1	0	0	0	0	0	0	0	1	4762	564	20	3		3	DPYSL3	5	146795411	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	6204717	146795411	34119849	102	25837											
IL17B	27190	genome.wustl.edu	37	chr5	148754128	148754128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcaccgtgcctccggcAggtccacggggatacggctg	7	5	15	14	4	0	0	0	0	0	0	2	1	2	1	4	6	2	3	4	6	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:148754128A>G	ENST00000261796.3	-	3	397	c.347T>C	c.(346-348)cTg>cCg	p.L116P	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	116					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCCGGCAGGTCCACGGG	0.622																																																	0													31	31	31					5																	148754128		2201	4289	6490	SO:0001583	missense	0			AF184969	CCDS4297.1	5q33.1	2011-07-14			ENSG00000127743	ENSG00000127743		"Interleukins and interleukin receptors"	5982	protein-coding gene	gene with protein product	"neuronal interleukin-17-related factor"	604627				10639155	Standard	NM_014443		Approved	IL-17B, ZCYTO7, IL-20, MGC138900, MGC138901, NIRF	uc003lqo.3	Q9UHF5	OTTHUMG00000130051	ENST00000261796.3:c.347T>C	5.37:g.148754128A>G	ENSP00000261796:p.Leu116Pro		Q14CE5	Missense_Mutation	SNP	pfam_IL-17_fam,prints_IL-17_chr	p.L116P	ENST00000261796.3	37	c.347	CCDS4297.1	5	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578331	0.65878	.	.	ENSG00000127743	ENST00000261796	T	0.61980	0.06	4.68	4.68	0.58851	.	0.111229	0.37483	N	0.002076	T	0.77765	0.4179	M	0.73430	2.235	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	T	0.81219	-0.1032	10	0.87932	D	0	-29.4782	14.3203	0.66482	1.0:0.0:0.0:0.0	.	116	Q9UHF5	IL17B_HUMAN	P	116	ENSP00000261796:L116P	ENSP00000261796:L116P	L	-	2	0	IL17B	148734321	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	6.899000	0.75682	1.963000	0.57068	0.459000	0.35465	CTG	IL17B	-	pfam_IL-17_fam	ENSG00000127743		0.622	IL17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17B	HGNC	protein_coding	OTTHUMT00000252330.1	-	0	52	0	A	NM_014443		148754128	-1	tier1	-	no_errors	ENST00000261796	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	G	G	148754128	A	G	148754128	3	3	90	1	0	0	0	0	1	0	0	0	7662	188	7	4	199	4	IL17B	5	148754128	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	1958717	148754128	32161132	103	25838											
FAT2	2196	genome.wustl.edu	37	chr5	150923997	150923997	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttggactcatagtccaAaggccctgttactgttagga	9	12	11	9	0	2	0	1	0	1	0	3	2	3	2	2	4	1	2	2	4	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:150923997A>T	ENST00000261800.5	-	9	6703	c.6691T>A	c.(6691-6693)Ttg>Atg	p.L2231M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2231	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATAGTCCAAAGGCCCTGTT	0.502																																																	0													121	118	119					5																	150923997		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6691T>A	5.37:g.150923997A>T	ENSP00000261800:p.Leu2231Met		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L2231M	ENST00000261800.5	37	c.6691	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	14.98	2.697193	0.48202	.	.	ENSG00000086570	ENST00000261800	T	0.74842	-0.88	5.48	0.537	0.17144	Cadherin (4);Cadherin-like (1);	0.000000	0.50627	D	0.000119	D	0.83764	0.5325	M	0.87328	2.875	0.37706	D	0.924392	D	0.89917	1.0	D	0.79784	0.993	T	0.82129	-0.0610	10	0.62326	D	0.03	.	6.1674	0.20398	0.46:0.1424:0.3976:0.0	.	2231	Q9NYQ8	FAT2_HUMAN	M	2231	ENSP00000261800:L2231M	ENSP00000261800:L2231M	L	-	1	2	FAT2	150904190	0.788000	0.28762	0.937000	0.37676	0.988000	0.76386	1.212000	0.32394	0.078000	0.16900	0.459000	0.35465	TTG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	51	0	A	NM_001447		150923997	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	8.89	40	4	SNP	0.259	T	T	150923997	A	T	150923997	3	4	90	1	0	0	0	0	1	0	0	0	5712	11	1	5	6418	5	FAT2	5	150923997	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	2169869	150923997	29991263	104	25839											
NKX2-5	1482	genome.wustl.edu	37	chr5	172659978	172659978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgccgcttgcacttgtagCgccggttctggaaccagatc	6	10	12	13	3	1	1	0	0	1	1	2	2	1	2	3	2	4	5	3	2	2	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:172659978C>T	ENST00000329198.4	-	2	842	c.569G>A	c.(568-570)cGc>cAc	p.R190H	NKX2-5_ENST00000424406.2_3'UTR|NKX2-5_ENST00000521848.1_3'UTR	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	190			R -> C (in ASD7). {ECO:0000269|PubMed:15810002}.		adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCACTTGTAGCGCCGGTTCTG	0.687																																					Esophageal Squamous(72;810 1219 2387 13420 44943)												0			GRCh37	CM044906	NKX2-5	M							17	16	16					5																	172659978		2202	4298	6500	SO:0001583	missense	0			AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"Homeoboxes / ANTP class : NKL subclass"	2488	protein-coding gene	gene with protein product	"tinman paralog (Drosophila)"	600584	"cardiac-specific homeo box", "NK2 transcription factor related, locus 5 (Drosophila)"	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.569G>A	5.37:g.172659978C>T	ENSP00000327758:p.Arg190His		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R190H	ENST00000329198.4	37	c.569	CCDS4387.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.197203	0.94960	.	.	ENSG00000183072	ENST00000329198	D	0.99158	-5.5	4.23	4.23	0.50019	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.53938	D	0.000051	D	0.99674	0.9878	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96894	0.9655	10	0.87932	D	0	.	16.8019	0.85616	0.0:1.0:0.0:0.0	.	190	P52952	NKX25_HUMAN	H	190	ENSP00000327758:R190H	ENSP00000327758:R190H	R	-	2	0	NKX2-5	172592584	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.624000	0.83124	2.203000	0.70933	0.462000	0.41574	CGC	NKX2-5	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000183072		0.687	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-5	HGNC	protein_coding	OTTHUMT00000252942.2	-	0	57	0	C			172659978	-1	tier1	-	no_errors	ENST00000329198	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	T	T	172659978	C	T	172659978	3	4	90	1	0	0	0	0	1	0	0	0	10492	768	27	1	409	1	NKX2-5	5	172659978	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	21735981	172659978	8255282	105	25840											
HK3	3101	genome.wustl.edu	37	chr5	176308317	176308317	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcaccgcgggtgcagcttGtagagcgttccatccacccc	7	8	10	16	3	1	1	1	0	0	1	3	1	3	1	5	1	3	4	5	1	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:176308317G>T	ENST00000292432.5	-	18	2704	c.2613C>A	c.(2611-2613)taC>taA	p.Y871*		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	871	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCAGCTTGTAGAGCGTTC	0.672																																																	0													90	99	96					5																	176308317		2203	4300	6503	SO:0001587	stop_gained	0				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2613C>A	5.37:g.176308317G>T	ENSP00000292432:p.Tyr871*		Q8N1E7	Nonsense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.Y871*	ENST00000292432.5	37	c.2613	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006326	0.93287	.	.	ENSG00000160883	ENST00000292432	.	.	.	5.09	2.13	0.27403	.	0.000000	0.44902	D	0.000407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2087	0.15304	0.3251:0.1392:0.5357:0.0	.	.	.	.	X	871	.	ENSP00000292432:Y871X	Y	-	3	2	HK3	176240923	1.000000	0.71417	0.999000	0.59377	0.311000	0.27955	3.494000	0.53273	0.191000	0.20236	-0.367000	0.07326	TAC	HK3	-	pfam_Hexokinase_C	ENSG00000160883		0.672	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	-	0	68	0	G			176308317	-1	tier1	-	no_errors	ENST00000292432	ensembl	human	known	74_37	nonsense	7.84	47	4	SNP	1.000	T	T	176308317	G	T	176308317	4	4	90	1	0	0	0	0	0	1	0	0	7219	1372	48	3	166	3	HK3	5	176308317	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	3648339	176308317	4606943	106	25841											
ADAMTS2	9509	genome.wustl.edu	37	chr5	178540976	178540976	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgagggattaggttgggTggctggacttcatcttccag	6	12	15	8	2	2	0	1	0	1	0	4	3	3	2	1	5	0	2	1	5	1	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:178540976T>C	ENST00000251582.7	-	22	3629	c.3528A>G	c.(3526-3528)ccA>ccG	p.P1176P		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1176					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTAGGTTGGGTGGCTGGACTT	0.502																																																	0													220	213	215					5																	178540976		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"ADAM metallopeptidases with thrombospondin type 1 motif"	218	protein-coding gene	gene with protein product	"procollagen I N-proteinase", "procollagen N-endopeptidase"	604539	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.3528A>G	5.37:g.178540976T>C				Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.P1176	ENST00000251582.7	37	c.3528	CCDS4444.1	5																																																																																			ADAMTS2	-	NULL	ENSG00000087116		0.502	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0	113	0	T	NM_014244		178540976	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	silent	32.47	52	25	SNP	0.479	C	C	178540976	T	C	178540976	2	2	90	1	0	0	0	0	0	0	0	1	265	1683	59	4		4	ADAMTS2	5	178540976	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	2232659	178540976	2374284	107	25842											
MGAT4B	11282	genome.wustl.edu	37	chr5	179225977	179225977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggatgaagtcccccgCggcaggggtgaaggcccaga	10	3	17	11	3	0	3	0	2	0	1	1	5	1	4	3	5	1	1	3	5	3	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr5:179225977C>T	ENST00000292591.7	-	11	1644	c.1294G>A	c.(1294-1296)Gcg>Acg	p.A432T	MGAT4B_ENST00000521305.1_5'Flank|MIR1229_ENST00000408467.1_RNA|MGAT4B_ENST00000337755.5_Missense_Mutation_p.A447T	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	432					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGTCCCCCGCGGCAGGGGTG	0.647																																					GBM(13;414 434 4098 22176 23230)												0													91	90	90					5																	179225977		2203	4300	6503	SO:0001583	missense	0			AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7048	protein-coding gene	gene with protein product		604561	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.1294G>A	5.37:g.179225977C>T	ENSP00000292591:p.Ala432Thr		A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.A447T	ENST00000292591.7	37	c.1339	CCDS4448.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.014581|5.014581	0.93404|0.93404	.|.	.|.	ENSG00000161013|ENSG00000161013	ENST00000337755;ENST00000292591;ENST00000519836|ENST00000518778;ENST00000520875	T;T|.	0.33654|.	1.4;1.41|.	4.17|4.17	4.17|4.17	0.49024|0.49024	.|.	0.060230|.	0.64402|.	N|.	0.000003|.	T|T	0.74951|0.74951	0.3784|0.3784	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	P;D;D|.	0.76494|.	0.94;0.991;0.999|.	B;B;D|.	0.77557|.	0.206;0.37;0.99|.	T|T	0.76798|0.76798	-0.2826|-0.2826	10|5	0.59425|.	D|.	0.04|.	-8.7569|-8.7569	16.6962|16.6962	0.85336|0.85336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	432;447;431|.	Q9UQ53;A8MPR0;Q9UQ53-2|.	MGT4B_HUMAN;.;.|.	T|H	447;432;300|256;212	ENSP00000338487:A447T;ENSP00000292591:A432T|.	ENSP00000292591:A432T|.	A|R	-|-	1|2	0|0	MGAT4B|MGAT4B	179158583|179158583	1.000000|1.000000	0.71417|0.71417	0.016000|0.016000	0.15963|0.15963	0.945000|0.945000	0.59286|0.59286	5.788000|5.788000	0.69020|0.69020	2.161000|2.161000	0.67846|0.67846	0.561000|0.561000	0.74099|0.74099	GCG|CGC	MGAT4B	-	NULL	ENSG00000161013		0.647	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4B	HGNC	protein_coding	OTTHUMT00000253503.3	-	0	35	0	C	NM_014275		179225977	-1	tier1	-	no_errors	ENST00000337755	ensembl	human	known	74_37	missense	43.24	21	16	SNP	0.993	T	T	179225977	C	T	179225977	3	4	90	1	0	0	0	0	1	0	0	0	9584	768	27	1	372	1	MGAT4B	5	179225977	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	685001	179225977	1689283	108	25843											
NRSN1	140767	genome.wustl.edu	37	chr6	24146173	24146173	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctctactggcaacctGaaacctttcccaccccagtt	9	9	5	18	0	1	1	0	1	1	0	2	1	2	1	7	1	4	2	7	1	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:24146173G>T	ENST00000378491.4	+	4	888	c.587G>T	c.(586-588)tGa>tTa	p.*196L		NM_080723.4	NP_542454.3			neurensin 1											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CTGGCAACCTGAAACCTTTCC	0.498																																																	0													56	63	61					6																	24146173		2203	4300	6503	SO:0001578	stop_lost	0			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"vesicular membrane protein p24"	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.587G>T	6.37:g.24146173G>T	ENSP00000367752:p.*196Leuext*16			Nonstop_Mutation	SNP	NULL	p.*196L	ENST00000378491.4	37	c.587	CCDS4549.1	6	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195101	0.38806	.	.	ENSG00000152954	ENST00000378491	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0813	0.93182	0.0:0.0:1.0:0.0	.	.	.	.	L	196	.	.	X	+	2	2	NRSN1	24254152	1.000000	0.71417	0.997000	0.53966	0.390000	0.30446	6.525000	0.73795	2.505000	0.84491	0.650000	0.86243	TGA	NRSN1	-	NULL	ENSG00000152954		0.498	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN1	HGNC	protein_coding	OTTHUMT00000043866.1	-	0	21	0	G	NM_080723		24146173	1	tier1	-	no_errors	ENST00000378491	ensembl	human	known	74_37	nonstop	18.75	13	3	SNP	1.000	T	T	24146173	G	T	24146173	4	4	90	1	0	0	0	0	0	0	0	0	10701	1285	45	3	593	3	NRSN1	6	24146173	Nonstop_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		24146173	146968894	109	25844											
HLA-G	3135	genome.wustl.edu	37	chr6	29795963	29795963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtccgaggatggagccGcgggcgccgtgggtggagca	5	5	21	10	6	0	0	0	0	0	0	1	4	1	3	3	5	2	1	3	5	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:29795963G>A	ENST00000360323.6	+	2	237	c.213G>A	c.(211-213)ccG>ccA	p.P71P	HLA-G_ENST00000428701.1_Silent_p.P71P|HLA-G_ENST00000376815.3_Silent_p.P71P|HLA-G_ENST00000376818.3_Silent_p.P71P|HLA-G_ENST00000376828.2_Silent_p.P76P			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	71	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GGATGGAGCCGCGGGCGCCGT	0.677																																																	0													41	28	32					6																	29795963		1511	2709	4220	SO:0001819	synonymous_variant	0				CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4964	protein-coding gene	gene with protein product	"b2 microglobulin"	142871	"HLA-G histocompatibility antigen, class I, G"				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.213G>A	6.37:g.29795963G>A				Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.P76	ENST00000360323.6	37	c.228	CCDS4668.1	6																																																																																			HLA-G	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204632		0.677	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-G	HGNC	protein_coding	OTTHUMT00000076286.2	-	0	100	0	G	NM_002127		29795963	1	tier1	-	no_errors	ENST00000376828	ensembl	human	known	74_37	silent	25.93	80	28	SNP	0.994	A	A	29795963	G	A	29795963	2	1	90	1	0	0	0	0	0	0	0	1	7239	1074	38	1		1	HLA-G	6	29795963	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	5649790	29795963	141319104	110	25845											
HLA-E	3133	genome.wustl.edu	37	chr6	30458193	30458193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcaaaagtcaaatgatGcctctgaggcggagcaccag	13	5	12	11	2	2	2	1	2	1	0	2	4	2	3	3	2	3	2	3	2	3	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:30458193G>T	ENST00000376630.4	+	3	576	c.511G>T	c.(511-513)Gcc>Tcc	p.A171S		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	171	Alpha-2.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GTCAAATGATGCCTCTGAGGC	0.592																																																	0													65	62	63					6																	30458193		1510	2709	4219	SO:0001583	missense	0			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.511G>T	6.37:g.30458193G>T	ENSP00000365817:p.Ala171Ser		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.A171S	ENST00000376630.4	37	c.511	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	12.01	1.810824	0.32053	.	.	ENSG00000204592	ENST00000376630	T	0.00792	5.69	1.67	1.67	0.24075	.	2.788690	0.03732	U	0.253637	T	0.00468	0.0015	L	0.37466	1.105	0.09310	N	1	B;B	0.31193	0.312;0.06	B;B	0.38327	0.271;0.078	T	0.46345	-0.9198	10	0.72032	D	0.01	.	6.7735	0.23607	0.0:0.0:1.0:0.0	.	212;171	E7ENN9;Q6DU44	.;.	S	171	ENSP00000365817:A171S	ENSP00000365817:A171S	A	+	1	0	HLA-E	30566172	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.238000	0.08977	1.235000	0.43724	0.462000	0.41574	GCC	HLA-E	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000204592		0.592	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	HGNC	protein_coding	OTTHUMT00000076282.2	-	0	61	0	G	NM_005516		30458193	1	tier1	-	no_errors	ENST00000376630	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.001	T	T	30458193	G	T	30458193	3	4	90	1	0	0	0	0	1	0	0	0	7237	1319	46	3	521	3	HLA-E	6	30458193	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	662230	30458193	140656874	111	25846											
EHMT2	10919	genome.wustl.edu	37	chr6	31856023	31856023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagcggtgggccacacGgaagtcagggtggcactcca	9	5	17	10	2	1	0	1	0	0	0	2	2	2	2	2	6	1	1	2	6	2	0	rs139432784		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:31856023G>A	ENST00000375537.4	-	13	1546	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	EHMT2_ENST00000375530.4_Missense_Mutation_p.R480C|EHMT2_ENST00000375528.4_Missense_Mutation_p.R537C|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.R571C	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	514					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGGGCCACACGGAAGTCAGGG	0.607																																																	0								G	CYS/ARG,CYS/ARG	0,3018		0,0,1509	63	60	61		1540,1438	4.6	1	6	dbSNP_134	61	1,5417		0,1,2708	no	missense,missense	EHMT2	NM_006709.3,NM_025256.5	180,180	0,1,4217	AA,AG,GG		0.0185,0.0,0.0119	probably-damaging,probably-damaging	514/1211,480/1177	31856023	1,8435	1509	2709	4218	SO:0001583	missense	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	14129	protein-coding gene	gene with protein product		604599	"chromosome 6 open reading frame 30", "HLA-B associated transcript 8"	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1540C>T	6.37:g.31856023G>A	ENSP00000364687:p.Arg514Cys		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.R571C	ENST00000375537.4	37	c.1711	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452683	0.63290	0.0	1.85E-4	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.44;-0.38;-0.49	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	T	0.60612	0.2282	N	0.14661	0.345	0.51482	D	0.999928	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	P;D;P;P	0.64042	0.872;0.921;0.835;0.835	T	0.68420	-0.5413	10	0.59425	D	0.04	.	11.4729	0.50280	0.0:0.0:0.8198:0.1802	.	537;480;514;328	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	C	571;537;480;514;328	ENSP00000379078:R571C;ENSP00000364678:R537C;ENSP00000364680:R480C;ENSP00000364687:R514C	ENSP00000364678:R537C	R	-	1	0	EHMT2	31964002	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.216000	0.32443	2.358000	0.79984	0.555000	0.69702	CGT	EHMT2	-	NULL	ENSG00000204371		0.607	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5		0	31	0	G	NM_006709		31856023	-1			no_errors	ENST00000395728	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A	A	31856023	G	A	31856023	3	1	90	1	0	0	0	0	1	0	0	0	4998	1116	39	1	2156	1	EHMT2	6	31856023	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1397830	31856023	139259044	112	25847											
LRFN2	57497	genome.wustl.edu	37	chr6	40399635	40399635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgcctccacctccccgGctggtcttgctggagccagt	4	9	10	18	1	1	0	0	0	1	0	3	1	3	1	7	3	3	2	7	3	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:40399635G>T	ENST00000338305.6	-	2	1760	c.1218C>A	c.(1216-1218)agC>agA	p.S406R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	406						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S406S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCTCCCCGGCTGGTCTTGC	0.652																																																	1	Substitution - coding silent(1)	large_intestine(1)											41	44	43					6																	40399635		2203	4300	6503	SO:0001583	missense	0			AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	21226	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 2"	612808	"KIAA1246"	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1218C>A	6.37:g.40399635G>T	ENSP00000345985:p.Ser406Arg		A5PKU3|Q5SYP9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S406R	ENST00000338305.6	37	c.1218	CCDS34443.1	6	.	.	.	.	.	.	.	.	.	.	G	8.732	0.916951	0.17907	.	.	ENSG00000156564	ENST00000338305	T	0.56444	0.46	5.38	2.41	0.29592	.	0.362821	0.36444	N	0.002595	T	0.21347	0.0514	L	0.43152	1.355	0.29742	N	0.837056	B	0.10296	0.003	B	0.12156	0.007	T	0.14062	-1.0486	10	0.62326	D	0.03	.	5.2911	0.15727	0.2415:0.0:0.6132:0.1452	.	406	Q9ULH4	LRFN2_HUMAN	R	406	ENSP00000345985:S406R	ENSP00000345985:S406R	S	-	3	2	LRFN2	40507613	0.191000	0.23288	0.921000	0.36526	0.631000	0.37964	0.544000	0.23253	0.622000	0.30249	0.561000	0.74099	AGC	LRFN2	-	NULL	ENSG00000156564		0.652	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN2	HGNC	protein_coding	OTTHUMT00000040488.1		0	81	0	G	XM_166372		40399635	-1			no_errors	ENST00000338305	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.832	T	T	40399635	G	T	40399635	3	4	90	1	0	0	0	0	1	0	0	0	8973	1194	42	3	1159	3	LRFN2	6	40399635	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	8543612	40399635	130715432	113	25848											
DST	667	genome.wustl.edu	37	chr6	56485366	56485366	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaagttcttcctctactcGggacttttgtttctttagtt	5	19	8	9	2	3	0	0	0	3	0	5	2	4	2	1	2	1	3	1	2	3	9	rs577972555		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:56485366G>A	ENST00000370765.6	-	23	3573	c.3466C>T	c.(3466-3468)Cga>Tga	p.R1156*	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCTACTCGGGACTTTTGT	0.433																																																	0													180	175	177					6																	56485366		2203	4300	6503	SO:0001587	stop_gained	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.3466C>T	6.37:g.56485366G>A	ENSP00000359801:p.Arg1156*		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Nonsense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1156*	ENST00000370765.6	37	c.3466	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.515711	0.98332	.	.	ENSG00000151914	ENST00000370765	.	.	.	4.48	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	7.7425	0.28849	0.0824:0.0:0.7546:0.163	.	.	.	.	X	1156	.	ENSP00000359801:R1156X	R	-	1	2	DST	56593325	0.849000	0.29639	0.577000	0.28562	0.672000	0.39443	3.785000	0.55424	1.077000	0.40990	0.460000	0.39030	CGA	DST	-	NULL	ENSG00000151914		0.433	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2		0	42	0	G	NM_001723		56485366	-1			no_errors	ENST00000370765	ensembl	human	known	74_37	nonsense	5.56	51	3	SNP	0.013	A	A	56485366	G	A	56485366	4	1	90	1	0	0	0	0	0	1	0	0	4797	1124	39	1	16937	1	DST	6	56485366	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	16085731	56485366	114629701	114	25849											
EYS	346007	genome.wustl.edu	37	chr6	64431646	64431646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttctgtcgccaaggttgtAgcgaagttgaacggaactat	11	11	12	7	3	1	1	0	1	1	0	2	3	1	2	1	2	3	4	1	2	6	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:64431646A>G	ENST00000370621.3	-	44	8870	c.8344T>C	c.(8344-8346)Tac>Cac	p.Y2782H	EYS_ENST00000503581.1_Missense_Mutation_p.Y2761H|EYS_ENST00000370616.2_Missense_Mutation_p.Y2782H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2782	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCAAGGTTGTAGCGAAGTTGA	0.358																																																	0													140	105	115					6																	64431646		692	1591	2283	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8344T>C	6.37:g.64431646A>G	ENSP00000359655:p.Tyr2782His		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.Y2782H	ENST00000370621.3	37	c.8344		6	.	.	.	.	.	.	.	.	.	.	A	21.4	4.138447	0.77775	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.77750	-1.12;-1.12;-1.12	4.71	4.71	0.59529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.096277	0.43579	U	0.000544	D	0.82407	0.5030	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81134	-0.1071	10	0.22706	T	0.39	.	12.7661	0.57393	1.0:0.0:0.0:0.0	.	2761;2782	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	H	2761;2782;2782	ENSP00000424243:Y2761H;ENSP00000359655:Y2782H;ENSP00000359650:Y2782H	ENSP00000359650:Y2782H	Y	-	1	0	EYS	64489605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.110000	0.89562	1.752000	0.51891	0.528000	0.53228	TAC	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000188107		0.358	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0	78	0	A	XM_294050		64431646	-1			no_errors	ENST00000370616	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	G	G	64431646	A	G	64431646	3	3	90	1	0	0	0	0	1	0	0	0	5348	420	15	4	1157	4	EYS	6	64431646	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	7946280	64431646	106683421	115	25850											
EYS	346007	genome.wustl.edu	37	chr6	65300859	65300859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattgttctttttgcactcTttttagaaggaaataaagat	14	17	6	4	0	2	2	0	0	2	2	2	3	2	3	0	1	1	2	0	1	6	8			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:65300859T>C	ENST00000370621.3	-	26	5427	c.4901A>G	c.(4900-4902)aAg>aGg	p.K1634R	EYS_ENST00000503581.1_Missense_Mutation_p.K1634R|EYS_ENST00000370616.2_Missense_Mutation_p.K1634R			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1634					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTTGCACTCTTTTTAGAAGG	0.353																																																	0													79	73	75					6																	65300859		692	1590	2282	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4901A>G	6.37:g.65300859T>C	ENSP00000359655:p.Lys1634Arg		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.K1634R	ENST00000370621.3	37	c.4901		6	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470122	0.26423	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.83992	-1.79;-1.77;-1.77	5.64	0.00433	0.14057	.	.	.	.	.	T	0.40619	0.1124	N	0.08118	0	0.36924	D	0.89152	B;B	0.26195	0.144;0.033	B;B	0.24155	0.051;0.013	T	0.04333	-1.0959	9	0.15499	T	0.54	.	6.1156	0.20124	0.5306:0.0724:0.0:0.397	.	1634;1634	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	R	1634	ENSP00000424243:K1634R;ENSP00000359655:K1634R;ENSP00000359650:K1634R	ENSP00000359650:K1634R	K	-	2	0	EYS	65357580	0.854000	0.29725	0.855000	0.33649	0.958000	0.62258	0.064000	0.14437	0.061000	0.16311	-0.403000	0.06358	AAG	EYS	-	NULL	ENSG00000188107		0.353	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	41	0	T	XM_294050		65300859	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.656	C	C	65300859	T	C	65300859	3	2	90	1	0	0	0	0	1	0	0	0	5348	1609	56	4	4450	4	EYS	6	65300859	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	869213	65300859	105814208	116	25851											
CD109	135228	genome.wustl.edu	37	chr6	74530287	74530287	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtggattactatgagccaAgtaagtatgctctggagttc	11	13	11	6	0	1	1	0	1	1	0	2	3	1	3	1	2	3	4	1	2	6	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:74530287A>C	ENST00000287097.5	+	32	4274	c.4162A>C	c.(4162-4164)Agg>Cgg	p.R1388R	CD109_ENST00000422508.2_Splice_Site_p.R1311R|CD109_ENST00000437994.2_Splice_Site_p.R1371R			Q6YHK3	CD109_HUMAN	CD109 molecule	1388					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTATGAGCCAAGTAAGTATGC	0.383																																																	0													75	75	75					6																	74530287		2203	4300	6503	SO:0001630	splice_region_variant	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.4162+1A>C	6.37:g.74530287A>C			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.R1388	ENST00000287097.5	37	c.4162	CCDS4982.1	6																																																																																			CD109	-	pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd	ENSG00000156535		0.383	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0	63	0	A	NM_133493	Silent	74530287	1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	silent	41.86	25	18	SNP	1.000	C	C	74530287	A	C	74530287	5	2	90	1	0	0	0	0	0	0	1	0	2970	86	3	4	4288	4	CD109	6	74530287	Splice_Site	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	9229428	74530287	96584780	117	25852											
MYO6	4646	genome.wustl.edu	37	chr6	76602247	76602247	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagctttctgcccttgtcagGctgaagtggaggcacagctg	7	11	13	10	0	2	1	1	1	1	0	2	2	2	2	1	3	3	4	1	3	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:76602247G>T	ENST00000369977.3	+	28	3086	c.2947G>T	c.(2947-2949)Gct>Tct	p.A983S	MYO6_ENST00000369985.4_Splice_Site_p.A983S|MYO6_ENST00000369981.3_Splice_Site_p.A983S|MYO6_ENST00000369975.1_Splice_Site_p.A983S	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	983	Glu-rich.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCCTTGTCAGGCTGAAGTGGA	0.517																																																	0													100	111	107					6																	76602247		2203	4300	6503	SO:0001630	splice_region_variant	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"Myosins / Myosin superfamily : Class VI"	7605	protein-coding gene	gene with protein product		600970	"deafness, autosomal recessive 37"	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2947-1G>T	6.37:g.76602247G>T			A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.A983S	ENST00000369977.3	37	c.2947	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417414	0.42918	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975;ENST00000430435	T;T;T;T;T	0.20738	2.23;2.05;2.05;2.23;2.05	5.75	5.75	0.90469	.	0.367115	0.30060	N	0.010502	T	0.22437	0.0541	M	0.63843	1.955	0.58432	D	0.999999	B;P	0.36768	0.058;0.569	B;B	0.43623	0.037;0.425	T	0.01065	-1.1463	9	.	.	.	.	19.9312	0.97120	0.0:0.0:1.0:0.0	.	983;983	Q9UM54-2;Q9UM54-1	.;.	S	983;983;983;983;983;46	ENSP00000358998:A983S;ENSP00000359002:A983S;ENSP00000358994:A983S;ENSP00000358992:A983S;ENSP00000399406:A46S	.	A	+	1	0	MYO6	76658967	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	5.358000	0.66064	2.720000	0.93068	0.491000	0.48974	GCT	MYO6	-	NULL	ENSG00000196586		0.517	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	-	0	61	0	G	NM_004999	Missense_Mutation	76602247	1	tier1	-	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	76602247	G	T	76602247	5	4	90	1	0	0	0	0	0	0	1	0	10119	1217	42	3	3053	3	MYO6	6	76602247	Splice_Site	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2071960	76602247	94512820	118	25853											
MDN1	23195	genome.wustl.edu	37	chr6	90440524	90440524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcattctgtcataaatCttcaactcatttttctgata	10	18	3	10	0	7	1	4	1	3	0	7	1	7	1	1	0	1	0	1	0	4	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:90440524C>A	ENST00000369393.3	-	35	5176	c.5061G>T	c.(5059-5061)aaG>aaT	p.K1687N	MDN1_ENST00000428876.1_Missense_Mutation_p.K1687N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1687					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCATAAATCTTCAACTCAT	0.343																																																	0													110	101	104					6																	90440524		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.5061G>T	6.37:g.90440524C>A	ENSP00000358400:p.Lys1687Asn		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.K1687N	ENST00000369393.3	37	c.5061	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408524	0.25378	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03330	3.97;3.97	5.62	4.76	0.60689	.	0.106321	0.64402	D	0.000008	T	0.01222	0.0040	L	0.31065	0.9	0.37707	D	0.92442	B	0.22800	0.075	B	0.20384	0.029	T	0.50294	-0.8845	10	0.19147	T	0.46	.	11.5098	0.50486	0.0:0.8568:0.0:0.1432	.	1687	Q9NU22	MDN1_HUMAN	N	1687	ENSP00000358400:K1687N;ENSP00000413970:K1687N	ENSP00000358400:K1687N	K	-	3	2	MDN1	90497245	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.635000	0.37134	1.377000	0.46286	-0.225000	0.12378	AAG	MDN1	-	pirsf_Midasin	ENSG00000112159		0.343	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	97	0	C			90440524	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	21.33	59	16	SNP	1.000	A	A	90440524	C	A	90440524	3	1	90	1	0	0	0	0	1	0	0	0	9453	912	32	3	12001	3	MDN1	6	90440524	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	13838277	90440524	80674543	119	25854											
SFRS18	25957	genome.wustl.edu	37	chr6	99862463	99862463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttacttggatcctgttggtGctggaatgactgcatccatt	7	15	10	9	0	0	1	0	1	0	0	2	3	2	3	2	3	3	3	2	3	2	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:99862463G>T	ENST00000369239.5	-	3	277	c.73C>A	c.(73-75)Cac>Aac	p.H25N	PNISR_ENST00000438806.1_Missense_Mutation_p.H25N|PNISR_ENST00000466057.1_5'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	25	Gln-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCCTGTTGGTGCTGGAATGAC	0.443																																																	0													142	127	132					6																	99862463		2203	4300	6503	SO:0001583	missense	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 111", "splicing factor, arginine/serine-rich 18"	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.73C>A	6.37:g.99862463G>T	ENSP00000358242:p.His25Asn		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	NULL	p.H25N	ENST00000369239.5	37	c.73	CCDS5043.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.176721	0.78564	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.50277	0.75;0.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	N	0.24115	0.695	0.80722	D	1	D;D	0.67145	0.989;0.996	D;D	0.76071	0.969;0.987	T	0.13415	-1.0510	10	0.15066	T	0.55	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	25;25	E1P5D4;Q8TF01	.;PNISR_HUMAN	N	25	ENSP00000358242:H25N;ENSP00000387997:H25N	ENSP00000358242:H25N	H	-	1	0	PNISR	99969184	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.358000	0.97109	2.941000	0.99782	0.655000	0.94253	CAC	PNISR	-	NULL	ENSG00000132424		0.443	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1		0	71	0	G	NM_032870		99862463	-1			no_errors	ENST00000369239	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	99862463	G	T	99862463	3	4	90	1	0	0	0	0	1	0	0	0	14219	1319	46	3	2384	3	SFRS18	6	99862463	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	9421939	99862463	71252604	120	25855											
ASCC3	10973	genome.wustl.edu	37	chr6	101095202	101095202	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggattgaaaattgtctcaaAgggctagcccaaccccaaag	15	7	9	10	0	1	1	1	1	1	0	2	2	1	2	3	2	2	1	3	2	6	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:101095202A>T	ENST00000369162.2	-	21	3722	c.3378T>A	c.(3376-3378)ccT>ccA	p.P1126P		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1126	SEC63 1.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATTGTCTCAAAGGGCTAGCCC	0.408																																																	0													125	121	122					6																	101095202		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"RNA helicase family"	614217	"helicase, ATP binding 1"	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.3378T>A	6.37:g.101095202A>T			E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1126	ENST00000369162.2	37	c.3378	CCDS5046.1	6																																																																																			ASCC3	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000112249		0.408	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASCC3	HGNC	protein_coding	OTTHUMT00000041632.2	-	0	80	0	A	NM_006828		101095202	-1	tier1	-	no_errors	ENST00000369162	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	T	T	101095202	A	T	101095202	2	4	90	1	0	0	0	0	0	0	0	1	1034	59	3	5		5	ASCC3	6	101095202	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	1232739	101095202	70019865	121	25856											
RFX6	222546	genome.wustl.edu	37	chr6	117240321	117240321	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattagcagacataagaaaTtttgctaaaaattgggaaca	18	12	7	4	0	0	2	0	0	0	2	0	3	0	3	0	1	3	2	0	1	8	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:117240321T>G	ENST00000332958.2	+	11	1060	c.1044T>G	c.(1042-1044)aaT>aaG	p.N348K		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	348					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACATAAGAAATTTTGCTAAAA	0.313																																																	0													88	89	89					6																	117240321		2203	4300	6503	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"regulatory factor X domain containing 1"	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1044T>G	6.37:g.117240321T>G	ENSP00000332208:p.Asn348Lys		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.N348K	ENST00000332958.2	37	c.1044	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	T	13.84	2.357404	0.41801	.	.	ENSG00000185002	ENST00000332958	T	0.59083	0.29	6.08	3.74	0.42951	.	0.090781	0.85682	D	0.000000	T	0.19644	0.0472	L	0.32530	0.975	0.49915	D	0.999836	B	0.31318	0.319	B	0.24006	0.05	T	0.06320	-1.0833	10	0.13853	T	0.58	-30.0351	7.7046	0.28642	0.0:0.2417:0.0:0.7583	.	348	Q8HWS3	RFX6_HUMAN	K	348	ENSP00000332208:N348K	ENSP00000332208:N348K	N	+	3	2	RFX6	117347014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.744000	0.38268	0.554000	0.29061	0.482000	0.46254	AAT	RFX6	-	NULL	ENSG00000185002		0.313	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	-	0	79	0	T	NM_173560		117240321	1	tier1	-	no_errors	ENST00000332958	ensembl	human	known	74_37	missense	50.00	35	35	SNP	1.000	G	G	117240321	T	G	117240321	3	3	90	1	0	0	0	0	1	0	0	0	13312	1490	52	4	1086	4	RFX6	6	117240321	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	16145119	117240321	53874746	122	25857											
C6orf174	387104	genome.wustl.edu	37	chr6	127837154	127837154	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccctctgctgagcGcgtacgcctttccctcgcca	3	9	9	20	5	1	1	0	1	1	0	3	1	2	1	6	0	4	2	6	0	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:127837154G>A	ENST00000525778.1	-	2	1351	c.606C>T	c.(604-606)cgC>cgT	p.R202R	SOGA3_ENST00000556132.1_Silent_p.R202R|SOGA3_ENST00000465909.2_Silent_p.R202R|SOGA3_ENST00000368268.2_Silent_p.R202R|SOGA3_ENST00000481848.2_Silent_p.R202R			Q5TF21	SOGA3_HUMAN	SOGA family member 3	202	Gly-rich.				regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCTGCTGAGCGCGTACGCCTT	0.741																																																	0													5	6	6					6																	127837154		1389	3397	4786	SO:0001819	synonymous_variant	0			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.606C>T	6.37:g.127837154G>A				Silent	SNP	pfam_SOGA	p.R202	ENST00000525778.1	37	c.606	CCDS43505.1	6																																																																																			SOGA3	-	NULL	ENSG00000214338		0.741	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	-	0	12	0	G	NM_001012279		127837154	-1	tier1	-	no_errors	ENST00000368268	ensembl	human	known	74_37	silent	44.44	5	4	SNP	0.998	A	A	127837154	G	A	127837154	2	1	90	1	0	0	0	0	0	0	0	1	2352	1074	38	1		1	C6orf174	6	127837154	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	10596833	127837154	43277913	123	25858											
TMEM200A	114801	genome.wustl.edu	37	chr6	130762277	130762277	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttatgttaaatgaaggtaAgagttctgggcatcttatgc	12	14	10	5	0	2	2	0	1	2	1	2	2	2	2	0	2	1	4	0	2	6	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr6:130762277A>C	ENST00000296978.3	+	3	1581	c.710A>C	c.(709-711)aAg>aCg	p.K237T	TMEM200A_ENST00000545622.1_Missense_Mutation_p.K237T|TMEM200A_ENST00000392429.1_Missense_Mutation_p.K237T	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	237						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AATGAAGGTAAGAGTTCTGGG	0.483																																																	0													66	64	64					6																	130762277		2203	4300	6503	SO:0001583	missense	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.710A>C	6.37:g.130762277A>C	ENSP00000296978:p.Lys237Thr		Q96PX5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.K237T	ENST00000296978.3	37	c.710	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	A	9.730	1.161910	0.21538	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	4.78	0.61160	.	0.354502	0.32301	N	0.006293	T	0.23572	0.0570	L	0.47716	1.5	0.28973	N	0.88914	B	0.27559	0.181	B	0.29440	0.102	T	0.07829	-1.0752	9	0.42905	T	0.14	-17.9716	9.3503	0.38133	0.8687:0.0:0.1313:0.0	.	237	Q86VY9	T200A_HUMAN	T	237	.	ENSP00000296978:K237T	K	+	2	0	TMEM200A	130803970	1.000000	0.71417	0.814000	0.32528	0.186000	0.23388	2.539000	0.45718	2.263000	0.75096	0.533000	0.62120	AAG	TMEM200A	-	NULL	ENSG00000164484		0.483	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1		0	31	0	A	NM_052913		130762277	1			no_errors	ENST00000296978	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.570	C	C	130762277	A	C	130762277	3	2	90	1	0	0	0	0	1	0	0	0	16170	72	3	4	712	4	TMEM200A	6	130762277	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	2925123	130762277	40352790	124	25859											
DNAH11	8701	genome.wustl.edu	37	chr7	21582997	21582997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagaacgaggaggaggCggcggccaggagagcgcgga	11	0	23	7	5	0	2	0	0	0	2	0	9	0	6	1	9	2	0	1	9	1	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:21582997C>T	ENST00000409508.3	+	1	165	c.134C>T	c.(133-135)gCg>gTg	p.A45V	DNAH11_ENST00000328843.6_Missense_Mutation_p.A45V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	45	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						gaggaggaggCGGCGGCCAGG	0.692									Kartagener syndrome																																								0													12	16	15					7																	21582997		1894	3928	5822	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.134C>T	7.37:g.21582997C>T	ENSP00000475939:p.Ala45Val		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A45V	ENST00000409508.3	37	c.134		7	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237989	0.39598	.	.	ENSG00000105877	ENST00000328843	T	0.27890	1.64	3.66	1.78	0.24846	.	1.348720	0.05053	N	0.478478	T	0.19725	0.0474	N	0.24115	0.695	0.28354	N	0.920778	B	0.21688	0.059	B	0.09377	0.004	T	0.24368	-1.0162	10	0.29301	T	0.29	.	4.6081	0.12387	0.2139:0.6671:0.0:0.119	.	45	Q96DT5	DYH11_HUMAN	V	45	ENSP00000330671:A45V	ENSP00000330671:A45V	A	+	2	0	DNAH11	21549522	0.035000	0.19736	0.978000	0.43139	0.888000	0.51559	0.455000	0.21843	0.339000	0.23719	0.563000	0.77884	GCG	DNAH11	-	NULL	ENSG00000105877		0.692	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0	41	0	C	NM_003777		21582997	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.996	T	T	21582997	C	T	21582997	3	4	90	1	0	0	0	0	1	0	0	0	4613	768	27	1	136	1	DNAH11	7	21582997	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		21582997	137555666	125	25860											
C7orf30	115416	genome.wustl.edu	37	chr7	23349147	23349147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgtgactccagtggaGttaaaatgtgaataaaatat	15	13	8	5	0	2	2	1	2	1	0	3	3	3	3	1	1	0	1	1	1	6	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:23349147G>A	ENST00000466681.1	+	4	843	c.690G>A	c.(688-690)gaG>gaA	p.E230E		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	230					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											CTCCAGTGGAGTTAAAATGTG	0.383																																																	0													63	60	61					7																	23349147		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"chromosome 7 open reading frame 30"	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.690G>A	7.37:g.23349147G>A			A4D154	Silent	SNP	pfam_Oligomer_dom,tigrfam_Iojap/RsfS	p.E230	ENST00000466681.1	37	c.690	CCDS5381.1	7																																																																																			MALSU1	-	NULL	ENSG00000156928		0.383	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MALSU1	HGNC	protein_coding	OTTHUMT00000250241.2	-	0	34	0	G	NM_138446		23349147	1	tier1	-	no_errors	ENST00000466681	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.295	A	A	23349147	G	A	23349147	2	1	90	1	0	0	0	0	0	0	0	1	2393	1020	36	3		3	C7orf30	7	23349147	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1766150	23349147	135789516	126	25861											
DFNA5	1687	genome.wustl.edu	37	chr7	24758817	24758817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacctgctggagcacaGggtttctcagatttattgtt	8	13	10	10	0	1	1	1	0	1	1	2	2	1	2	2	2	3	5	2	2	1	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:24758817G>A	ENST00000342947.3	-	4	850	c.425C>T	c.(424-426)cCt>cTt	p.P142L	DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.P142L|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	142			P -> T (in dbSNP:rs754554). {ECO:0000269|PubMed:12690205}.		apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CTGGAGCACAGGGTTTCTCAG	0.483																																					GBM(78;184 1250 20134 20900 23600)												0													111	107	108					7																	24758817		2203	4300	6503	SO:0001583	missense	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.425C>T	7.37:g.24758817G>A	ENSP00000339587:p.Pro142Leu		A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Missense_Mutation	SNP	pfam_Gasdermin	p.P142L	ENST00000342947.3	37	c.425	CCDS5389.1	7	.	.	.	.	.	.	.	.	.	.	G	9.145	1.014747	0.19355	.	.	ENSG00000105928	ENST00000342947;ENST00000409775	T;T	0.22134	1.97;1.97	5.17	3.33	0.38152	.	0.885835	0.10104	N	0.715585	T	0.16428	0.0395	L	0.31207	0.915	0.25894	N	0.983434	B;B	0.18461	0.028;0.028	B;B	0.24541	0.054;0.054	T	0.31280	-0.9949	10	0.33141	T	0.24	-2.0218	8.1278	0.31010	0.0909:0.1603:0.7488:0.0	.	142;142	A4FTY0;O60443	.;DFNA5_HUMAN	L	142	ENSP00000339587:P142L;ENSP00000386670:P142L	ENSP00000339587:P142L	P	-	2	0	DFNA5	24725342	0.052000	0.20516	0.000000	0.03702	0.002000	0.02628	2.077000	0.41557	0.548000	0.28955	-0.165000	0.13383	CCT	DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.483	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2		0	25	0	G	NM_004403		24758817	-1			no_errors	ENST00000342947	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.002	A	A	24758817	G	A	24758817	3	1	90	1	0	0	0	0	1	0	0	0	4468	1000	35	3	1093	3	DFNA5	7	24758817	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1409670	24758817	134379846	127	25862											
HOXA1	3198	genome.wustl.edu	37	chr7	27134095	27134095	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagtgtctgaggtagaagaCcccggggaaggaacgcaggg	12	4	18	7	2	1	4	0	1	1	3	1	6	1	6	2	5	1	2	2	5	4	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:27134095C>G	ENST00000343060.4	-	2	1033	c.972G>C	c.(970-972)ggG>ggC	p.G324G	HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_3'UTR|HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	324					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGTAGAAGACCCCGGGGAAG	0.612																																																	0													57	58	58					7																	27134095		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"Homeoboxes / ANTP class : HOXL subclass"	5099	protein-coding gene	gene with protein product		142955	"homeo box A1"	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.972G>C	7.37:g.27134095C>G			A4D184|B2R8U7|O43363	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.G324	ENST00000343060.4	37	c.972	CCDS5401.1	7																																																																																			HOXA1	-	NULL	ENSG00000105991		0.612	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA1	HGNC	protein_coding	OTTHUMT00000358454.1		0	41	0	C			27134095	-1			no_errors	ENST00000343060	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.926	G	G	27134095	C	G	27134095	2	3	90	1	0	0	0	0	0	0	0	1	7315	494	18	5		5	HOXA1	7	27134095	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2375278	27134095	132004568	128	25863											
GLI3	2737	genome.wustl.edu	37	chr7	42004019	42004019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccatgttggtggtgctcatgGacagcgctgggaatgggagg	7	9	18	7	1	1	0	1	0	0	0	1	3	1	3	1	6	2	3	1	6	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:42004019G>C	ENST00000395925.3	-	15	4736	c.4652C>G	c.(4651-4653)tCc>tGc	p.S1551C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1551					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGTGCTCATGGACAGCGCTGG	0.557									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													85	84	84					7																	42004019		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"Zinc fingers, C2H2-type"	4319	protein-coding gene	gene with protein product	"zinc finger protein GLI3", "oncogene GLI3", "DNA-binding protein"	165240	"Greig cephalopolysyndactyly syndrome", "GLI-Kruppel family member GLI3", "glioma-associated oncogene family zinc finger 3"	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4652C>G	7.37:g.42004019G>C	ENSP00000379258:p.Ser1551Cys		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1551C	ENST00000395925.3	37	c.4652	CCDS5465.1	7	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309084	0.60414	.	.	ENSG00000106571	ENST00000395925	T	0.14516	2.5	6.03	6.03	0.97812	.	0.406933	0.29087	N	0.013200	T	0.15349	0.0370	N	0.19112	0.55	0.80722	D	1	D	0.53885	0.963	P	0.45712	0.491	T	0.00872	-1.1532	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1551	P10071	GLI3_HUMAN	C	1551	ENSP00000379258:S1551C	ENSP00000379258:S1551C	S	-	2	0	GLI3	41970544	1.000000	0.71417	0.734000	0.30879	0.871000	0.50021	6.593000	0.74100	2.861000	0.98227	0.655000	0.94253	TCC	GLI3	-	NULL	ENSG00000106571		0.557	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3	-	0	62	0	G	NM_000168		42004019	-1	tier1	-	no_errors	ENST00000395925	ensembl	human	known	74_37	missense	25.37	50	17	SNP	0.999	C	C	42004019	G	C	42004019	3	2	90	1	0	0	0	0	1	0	0	0	6465	1174	41	5	94	5	GLI3	7	42004019	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	14869924	42004019	117134644	129	25864											
YKT6	10652	genome.wustl.edu	37	chr7	44244168	44244168	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacattttgtgtttcttagcGttcaggaattcatgaccttc	8	18	7	8	1	3	1	2	1	1	0	4	2	3	2	1	1	2	2	1	1	3	8	rs374571498		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:44244168G>T	ENST00000223369.2	+	2	193	c.106G>T	c.(106-108)Gtt>Ttt	p.V36F	YKT6_ENST00000496112.1_Splice_Site_p.V36F|YKT6_ENST00000447123.1_3'UTR	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	36	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						GTTTCTTAGCGTTCAGGAATT	0.428																																																	0													143	125	131					7																	44244168		2203	4300	6503	SO:0001630	splice_region_variant	0			BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"R-SNARE"	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.105-1G>T	7.37:g.44244168G>T			B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin	p.V36F	ENST00000223369.2	37	c.106	CCDS5482.1	7	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433473	0.83776	.	.	ENSG00000106636	ENST00000496112;ENST00000223369	T	0.21543	2.0	5.55	5.55	0.83447	Longin (2);Longin-like (1);	0.114746	0.64402	D	0.000017	T	0.53012	0.1770	M	0.89163	3.01	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.68943	0.961;0.961	T	0.61232	-0.7104	10	0.87932	D	0	-11.2503	16.4348	0.83872	0.0:0.0:1.0:0.0	.	36;36	B4DR94;O15498	.;YKT6_HUMAN	F	36	ENSP00000223369:V36F	ENSP00000223369:V36F	V	+	1	0	YKT6	44210693	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.817000	0.55668	2.615000	0.88500	0.650000	0.86243	GTT	YKT6	-	superfamily_Longin-like_dom,pfscan_Longin_dom	ENSG00000106636		0.428	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YKT6	HGNC	protein_coding	OTTHUMT00000251125.2	-	0	54	0	G	NM_006555	Missense_Mutation	44244168	1	tier1	-	no_errors	ENST00000223369	ensembl	human	known	74_37	missense	7.14	51	4	SNP	1.000	T	T	44244168	G	T	44244168	5	4	90	1	0	0	0	0	0	0	1	0	17534	1159	40	2	112	2	YKT6	7	44244168	Splice_Site	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2240149	44244168	114894495	130	25865											
ABCA13	154664	genome.wustl.edu	37	chr7	48685035	48685035	+	Frame_Shift_Del	DEL	A	A	-																															atttattaattttgcttctgAgcagcagcaaactctacaat																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:48685035delA	ENST00000435803.1	+	62	15128	c.15104delA	c.(15103-15105)gagfs	p.E5035fs	ABCA13_ENST00000544596.1_Frame_Shift_Del_p.E765fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	5035					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGCTTCTGAGCAGCAGCAA	0.358																																																	0													62	58	59					7																	48685035		1943	4160	6103	SO:0001589	frameshift_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.15104delA	7.37:g.48685035delA	ENSP00000411096:p.Glu5035fs		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E5035fs	ENST00000435803.1	37	c.15104	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.358	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2		0	57	0	A	NM_152701		48685035	1	tier1		no_errors	ENST00000435803	ensembl	human	known	74_37	frame_shift_del	35.19	35	19	DEL	0.961	-	-	48685035	A	-	48685035	7	5	90	1	0	1	0	1	0	0	0	0	31	304	11	0	15179	0	ABCA13	7	48685035	Frame_Shift_Del	DEL	A	TCGA-L5-A8NR-01A-11D-A37C-09	4440867	48685035	110453628	131	25866											
ZNF736	728927	genome.wustl.edu	37	chr7	63808854	63808854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagatgctacaaatgtgaaGaatgtggcaaagcgtttaaa	17	9	11	4	1	0	3	0	1	0	2	0	4	0	3	0	1	3	3	0	1	7	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:63808854G>A	ENST00000423484.2	+	4	735	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	ZNF736_ENST00000355095.4_Missense_Mutation_p.E205K			B4DX44	ZN736_HUMAN	zinc finger protein 736	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						CAAATGTGAAGAATGTGGCAA	0.353																																																	0													22	19	20					7																	63808854		692	1591	2283	SO:0001583	missense	0				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.613G>A	7.37:g.63808854G>A	ENSP00000400852:p.Glu205Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E205K	ENST00000423484.2	37	c.613	CCDS55114.1	7	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829311	0.32329	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.01152	5.26;5.26	1.15	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	L	0.49126	1.545	0.09310	N	1	P	0.50943	0.94	B	0.42851	0.4	T	0.51498	-0.8698	9	0.56958	D	0.05	.	7.7295	0.28779	0.0:0.0:1.0:0.0	.	205	B4DX44	ZN736_HUMAN	K	205	ENSP00000347210:E205K;ENSP00000400852:E205K	ENSP00000347210:E205K	E	+	1	0	ZNF736	63446289	0.000000	0.05858	0.109000	0.21407	0.542000	0.35054	-0.137000	0.10389	0.555000	0.29079	0.305000	0.20034	GAA	ZNF736	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000234444		0.353	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	HGNC	protein_coding	OTTHUMT00000344559.2	-	0	38	0	G	NM_001170905		63808854	1	tier1	-	no_errors	ENST00000355095	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.101	A	A	63808854	G	A	63808854	3	1	90	1	0	0	0	0	1	0	0	0	18173	943	33	3	627	3	ZNF736	7	63808854	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	15123819	63808854	95329809	132	25867											
TPST1	8460	genome.wustl.edu	37	chr7	65705524	65705524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcaccggatagaggaaCgtagccagccagtcaaattg	13	6	11	11	2	2	1	2	0	0	1	2	3	2	3	4	2	3	1	4	2	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:65705524C>T	ENST00000304842.5	+	2	537	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	38					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATAGAGGAACGTAGCCAGCC	0.483																																																	0													90	74	79					7																	65705524		2203	4300	6503	SO:0001583	missense	0			AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"Sulfotransferases, membrane-bound"	12020	protein-coding gene	gene with protein product	"transport and golgi organization 13 homolog A (Drosophila)"	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.112C>T	7.37:g.65705524C>T	ENSP00000302413:p.Arg38Cys		A4D2M0|Q6FGM7	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.R38C	ENST00000304842.5	37	c.112	CCDS5533.1	7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421654	0.83559	.	.	ENSG00000169902	ENST00000304842;ENST00000442120;ENST00000544114;ENST00000451388	.	.	.	5.93	5.93	0.95920	.	0.103719	0.64402	D	0.000002	T	0.61073	0.2318	L	0.27053	0.805	0.80722	D	1	D;D	0.61080	0.989;0.981	P;P	0.54924	0.764;0.517	T	0.62286	-0.6886	9	0.56958	D	0.05	-15.8569	19.3279	0.94270	0.0:1.0:0.0:0.0	.	38;38	F5H7U7;O60507	.;TPST1_HUMAN	C	38	.	ENSP00000302413:R38C	R	+	1	0	TPST1	65342959	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	4.164000	0.58190	2.803000	0.96430	0.585000	0.79938	CGT	TPST1	-	NULL	ENSG00000169902		0.483	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST1	HGNC	protein_coding	OTTHUMT00000251705.2	-	0	58	0	C	NM_003596		65705524	1	tier1	-	no_errors	ENST00000304842	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	65705524	C	T	65705524	3	4	90	1	0	0	0	0	1	0	0	0	16475	536	19	1	114	1	TPST1	7	65705524	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	1896670	65705524	93433139	133	25868											
AUTS2	26053	genome.wustl.edu	37	chr7	69064801	69064801	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctcgtcgtcgggctcCgacaaggaagacaatgggaa	10	6	13	12	5	0	1	0	0	0	1	5	4	1	3	2	3	0	1	2	3	4	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:69064801C>T	ENST00000342771.4	+	1	483	c.162C>T	c.(160-162)tcC>tcT	p.S54S	AUTS2_ENST00000403018.2_Silent_p.S54S|AUTS2_ENST00000406775.2_Silent_p.S54S|RP5-942I16.1_ENST00000436600.2_lincRNA	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	54										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CGTCGGGCTCCGACAAGGAAG	0.761																																																	0													11	12	12					7																	69064801		2137	4157	6294	SO:0001819	synonymous_variant	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.162C>T	7.37:g.69064801C>T			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	prints_AUTS2	p.S54	ENST00000342771.4	37	c.162	CCDS5539.1	7																																																																																			AUTS2	-	NULL	ENSG00000158321		0.761	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	-	0	44	0	C			69064801	1	tier1	-	no_errors	ENST00000342771	ensembl	human	known	74_37	silent	25.00	21	7	SNP	0.999	T	T	69064801	C	T	69064801	2	4	90	1	0	0	0	0	0	0	0	1	1226	639	23	1		1	AUTS2	7	69064801	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3359277	69064801	90073862	134	25869											
WBSCR17	64409	genome.wustl.edu	37	chr7	70880968	70880968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggaaggcctgatccGcgctcgcattgagggctgga	9	6	17	9	3	0	3	0	2	0	1	2	6	1	5	2	4	0	3	2	4	2	1	rs367865697		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:70880968G>A	ENST00000333538.5	+	4	1317	c.683G>A	c.(682-684)cGc>cAc	p.R228H	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	228	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGCCTGATCCGCGCTCGCATT	0.572																																																	0								G	HIS/ARG	0,4406		0,0,2203	91	78	82		683	5	1	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	WBSCR17	NM_022479.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	228/599	70880968	1,13005	2203	4300	6503	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.683G>A	7.37:g.70880968G>A	ENSP00000329654:p.Arg228His		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R228H	ENST00000333538.5	37	c.683	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.466726	0.96257	0.0	1.16E-4	ENSG00000185274	ENST00000333538	T	0.61980	0.06	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.87180	2.865	0.80722	D	1	D	0.58620	0.983	P	0.58820	0.846	D	0.84356	0.0535	10	0.87932	D	0	.	17.3775	0.87396	0.0:0.0:1.0:0.0	.	228	Q6IS24	GLTL3_HUMAN	H	228	ENSP00000329654:R228H	ENSP00000329654:R228H	R	+	2	0	WBSCR17	70518904	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.378000	0.97191	2.351000	0.79841	0.462000	0.41574	CGC	WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.572	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	38	0	G	NM_022479		70880968	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	A	A	70880968	G	A	70880968	3	1	90	1	0	0	0	0	1	0	0	0	17313	1087	38	1	697	1	WBSCR17	7	70880968	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1816167	70880968	88257695	135	25870											
SEMA3D	223117	genome.wustl.edu	37	chr7	84666287	84666287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttatgagcatatggaccaTtaaaaactgctctgatgtca	13	12	7	9	0	2	2	1	2	1	0	2	3	2	3	2	1	3	2	2	1	5	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:84666287T>C	ENST00000284136.6	-	10	1152	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	370	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATATGGACCATTAAAAACTGC	0.418																																					Ovarian(63;442 1191 17318 29975 31528)												0													125	108	114					7																	84666287		2203	4300	6503	SO:0001583	missense	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1109A>G	7.37:g.84666287T>C	ENSP00000284136:p.Asn370Ser		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.N370S	ENST00000284136.6	37	c.1109	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	T	17.75	3.467157	0.63625	.	.	ENSG00000153993	ENST00000284136	T	0.11930	2.73	5.89	5.89	0.94794	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.21186	0.0510	L	0.31845	0.965	0.80722	D	1	P	0.49447	0.924	P	0.52957	0.714	T	0.00453	-1.1730	10	0.46703	T	0.11	.	16.3071	0.82852	0.0:0.0:0.0:1.0	.	370	O95025	SEM3D_HUMAN	S	370	ENSP00000284136:N370S	ENSP00000284136:N370S	N	-	2	0	SEMA3D	84504223	1.000000	0.71417	0.910000	0.35882	0.494000	0.33585	7.965000	0.87945	2.250000	0.74265	0.477000	0.44152	AAT	SEMA3D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.418	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0	34	0	T	NM_152754		84666287	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	60.00	8	12	SNP	1.000	C	C	84666287	T	C	84666287	3	2	90	1	0	0	0	0	1	0	0	0	14072	1493	52	4	1256	4	SEMA3D	7	84666287	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	13785319	84666287	74472376	136	25871											
GRM3	2913	genome.wustl.edu	37	chr7	86394587	86394587	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggtgaccttgttttaggGggcctgtttcctattaacga	8	14	12	7	1	0	1	0	1	0	0	1	3	1	1	3	3	1	2	3	3	4	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:86394587G>C	ENST00000361669.2	+	2	1225	c.126G>C	c.(124-126)ggG>ggC	p.G42G	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.G42G|GRM3_ENST00000394720.2_Silent_p.G40G|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	42					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TTGTTTTAGGGGGCCTGTTTC	0.413																																					GBM(52;969 1098 3139 52280)												0													105	108	107					7																	86394587		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.126G>C	7.37:g.86394587G>C			Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.G42	ENST00000361669.2	37	c.126	CCDS5600.1	7																																																																																			GRM3	-	superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000198822		0.413	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2		0	54	0	G			86394587	1			no_errors	ENST00000361669	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.978	C	C	86394587	G	C	86394587	2	2	90	1	0	0	0	0	0	0	0	1	6825	1219	43	5		5	GRM3	7	86394587	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1728300	86394587	72744076	137	25872											
ABCB1	5243	genome.wustl.edu	37	chr7	87150134	87150134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcatacatatgttcaaacTtctgctcctgagtcaaagaa	14	11	7	9	0	3	2	2	1	1	1	4	3	4	2	1	0	4	3	1	0	5	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:87150134T>G	ENST00000265724.3	-	23	3161	c.2744A>C	c.(2743-2745)aAg>aCg	p.K915T	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.K851T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	915	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ATGTTCAAACTTCTGCTCCTG	0.413																																																	0													132	122	126					7																	87150134		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2744A>C	7.37:g.87150134T>G	ENSP00000265724:p.Lys915Thr		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.K915T	ENST00000265724.3	37	c.2744	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460035	0.26248	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90069	-2.61;-2.61	5.28	4.13	0.48395	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.045379	0.85682	D	0.000000	D	0.88396	0.6425	L	0.35593	1.075	0.51012	D	0.999907	B;D	0.53885	0.003;0.963	B;D	0.75020	0.077;0.985	D	0.83935	0.0308	10	0.24483	T	0.36	-16.6982	5.1519	0.15015	0.1329:0.1469:0.0:0.7202	.	851;915	B5AK60;P08183	.;MDR1_HUMAN	T	696;915;851	ENSP00000265724:K915T;ENSP00000444095:K851T	ENSP00000265724:K915T	K	-	2	0	ABCB1	86988070	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.222000	0.32515	0.849000	0.35215	0.533000	0.62120	AAG	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.413	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	-	0	79	0	T	NM_000927		87150134	-1	tier1	-	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	60.00	16	24	SNP	1.000	G	G	87150134	T	G	87150134	3	3	90	1	0	0	0	0	1	0	0	0	40	1609	56	4	1126	4	ABCB1	7	87150134	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	755547	87150134	71988529	138	25873											
PDK4	5166	genome.wustl.edu	37	chr7	95217103	95217103	+	Frame_Shift_Del	DEL	T	T	-																															ttggtgtaagggaaggctgaTtttcctggtgttcaactgtt																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:95217103delT	ENST00000005178.5	-	8	1003	c.806delA	c.(805-807)aatfs	p.N269fs		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	269	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GGAAGGCTGATTTTCCTGGTG	0.388																																																	0													82	80	81					7																	95217103		2203	4300	6503	SO:0001589	frameshift_variant	0			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.806delA	7.37:g.95217103delT	ENSP00000005178:p.Asn269fs			Frame_Shift_Del	DEL	pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.N269fs	ENST00000005178.5	37	c.806	CCDS5643.1	7																																																																																			PDK4	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core	ENSG00000004799		0.388	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	HGNC	protein_coding	OTTHUMT00000333298.1		0	66	0	T	NM_002612		95217103	-1	tier1		no_errors	ENST00000005178	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.125	-	-	95217103	T	-	95217103	7	5	90	1	0	1	0	1	0	0	0	0	11717	1493	52	0	445	0	PDK4	7	95217103	Frame_Shift_Del	DEL	T	TCGA-L5-A8NR-01A-11D-A37C-09	8066969	95217103	63921560	139	25874											
TRRAP	8295	genome.wustl.edu	37	chr7	98579527	98579527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagcagcctggccatcCgcgagtggcggcggctgccc	4	5	16	16	4	0	0	0	0	0	0	1	1	1	0	5	5	3	2	5	5	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:98579527C>T	ENST00000359863.4	+	58	8958	c.8749C>T	c.(8749-8751)Cgc>Tgc	p.R2917C	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2899C|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2899C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2917	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTGGCCATCCGCGAGTGGCG	0.677																																																	0													15	16	15					7																	98579527		2194	4274	6468	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8749C>T	7.37:g.98579527C>T	ENSP00000352925:p.Arg2917Cys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2917C	ENST00000359863.4	37	c.8749	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800433	0.90538	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.70631	-0.5;-0.5	5.46	5.46	0.80206	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.64237	0.923;0.916;0.916	D	0.88749	0.3249	10	0.87932	D	0	.	19.3216	0.94243	0.0:1.0:0.0:0.0	.	2899;2638;2917	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	2917;2899;2898	ENSP00000352925:R2917C;ENSP00000347733:R2899C	ENSP00000347733:R2899C	R	+	1	0	TRRAP	98417463	1.000000	0.71417	0.994000	0.49952	0.950000	0.60333	5.874000	0.69652	2.573000	0.86826	0.655000	0.94253	CGC	TRRAP	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000196367		0.677	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	39	0	C	NM_003496		98579527	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	34.48	19	10	SNP	1.000	T	T	98579527	C	T	98579527	3	4	90	1	0	0	0	0	1	0	0	0	16649	652	23	1	8917	1	TRRAP	7	98579527	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3362424	98579527	60559136	140	25875											
MEPCE	56257	genome.wustl.edu	37	chr7	100028975	100028975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagtggtttcggggccGggacgtcctagatctgggct	4	10	17	10	3	1	2	0	1	1	1	3	3	2	3	3	5	0	2	3	5	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:100028975G>T	ENST00000310512.2	+	1	1722	c.1334G>T	c.(1333-1335)cGg>cTg	p.R445L	ZCWPW1_ENST00000398027.2_5'Flank|MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	445	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCGGGGCCGGGACGTCCTA	0.577																																																	0													90	77	81					7																	100028975		2203	4300	6503	SO:0001583	missense	0			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"bin3, bicoid-interacting 3, homolog (Drosophila)"	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1334G>T	7.37:g.100028975G>T	ENSP00000308546:p.Arg445Leu		B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	pfam_Bin3	p.R445L	ENST00000310512.2	37	c.1334	CCDS5693.1	7	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203245	0.79127	.	.	ENSG00000146834	ENST00000310512	T	0.22134	1.97	4.68	3.81	0.43845	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.072360	0.53938	D	0.000044	T	0.13798	0.0334	N	0.16066	0.365	0.44515	D	0.997462	P	0.52842	0.956	P	0.46026	0.501	T	0.03413	-1.1039	10	0.56958	D	0.05	-15.6864	7.116	0.25416	0.1984:0.0:0.8016:0.0	.	445	Q7L2J0	MEPCE_HUMAN	L	445	ENSP00000308546:R445L	ENSP00000308546:R445L	R	+	2	0	MEPCE	99866911	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.526000	0.67116	1.193000	0.43086	0.462000	0.41574	CGG	MEPCE	-	NULL	ENSG00000146834		0.577	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1	-	0	121	0	G			100028975	1	tier1	-	no_errors	ENST00000310512	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	100028975	G	T	100028975	3	4	90	1	0	0	0	0	1	0	0	0	9515	1116	39	2	1336	2	MEPCE	7	100028975	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1449448	100028975	59109688	141	25876											
PAXIP1	22976	genome.wustl.edu	37	chr7	154782727	154782727	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcttacctgagaaaggcAggcagtgattccaaaaaaaa	17	7	9	8	0	0	2	0	2	0	1	1	3	1	2	2	2	2	3	2	2	6	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr7:154782727A>G	ENST00000404141.1	-	4	467	c.313T>C	c.(313-315)Tgc>Cgc	p.C105R	PAXIP1_ENST00000397192.1_Missense_Mutation_p.C105R|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	105	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TGAGAAAGGCAGGCAGTGATT	0.328																																																	0													50	47	48					7																	154782727		1825	4078	5903	SO:0001583	missense	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.313T>C	7.37:g.154782727A>G	ENSP00000384048:p.Cys105Arg		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.C105R	ENST00000404141.1	37	c.313	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101337	0.76983	.	.	ENSG00000157212	ENST00000404141;ENST00000397192	D;D	0.84944	-1.92;-1.92	5.26	5.26	0.73747	BRCT (3);	0.137376	0.33217	U	0.005160	D	0.94032	0.8088	M	0.93854	3.465	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.95353	0.8448	10	0.87932	D	0	-0.7776	14.0495	0.64727	1.0:0.0:0.0:0.0	.	105	Q6ZW49	PAXI1_HUMAN	R	105	ENSP00000384048:C105R;ENSP00000380376:C105R	ENSP00000380376:C105R	C	-	1	0	PAXIP1	154413660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.193000	0.89719	2.113000	0.64589	0.454000	0.30748	TGC	PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.328	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	0	46	0	A	NM_007349		154782727	-1	tier1	-	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	G	G	154782727	A	G	154782727	3	3	90	1	0	0	0	0	1	0	0	0	11526	188	7	4	2968	4	PAXIP1	7	154782727	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	54753752	154782727	4355936	142	25877											
ADAM7	8756	genome.wustl.edu	37	chr8	24326334	24326334	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgttgctgatgatactgtgGtaagttttcaatagaacatt	11	17	9	4	0	1	3	1	2	0	1	1	3	1	3	0	1	3	4	0	1	5	8			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:24326334G>T	ENST00000175238.6	+	7	716		c.e7+1		RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Splice_Site	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGATACTGTGGTAAGTTTTCA	0.323																																																	0													224	206	212					8																	24326334		2203	4300	6503	SO:0001630	splice_region_variant	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"ADAM metallopeptidase domain containing"	214	protein-coding gene	gene with protein product		607310	"a disintegrin and metalloproteinase domain 7"				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.633+1G>T	8.37:g.24326334G>T			A8K8X7|O75959|Q6PEJ6	Splice_Site	SNP	-	e7+1	ENST00000175238.6	37	c.633+1	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800348	0.31869	.	.	ENSG00000069206	ENST00000175238;ENST00000380789	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4121	0.67121	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM7	24382224	1.000000	0.71417	1.000000	0.80357	0.230000	0.25150	4.063000	0.57499	2.767000	0.95098	0.563000	0.77884	.	ADAM7	-	-	ENSG00000069206		0.323	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0	96	0	G	NM_003817	Intron	24326334	1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	splice_site	66.67	11	22	SNP	1.000	T	T	24326334	G	T	24326334	5	4	90	1	0	0	0	0	0	0	1	0	251	1275	44	3	660	3	ADAM7	8	24326334	Splice_Site	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		24326334	122037688	143	25878											
WRN	7486	genome.wustl.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-																															aaatctgggtcttcctactaAagaagaagaagaagatgatg																								rs555283914	byFrequency	TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					3	0.000599042	0	0	5008	,	,		22085	0.001		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0																																										SO:0001651	inframe_deletion	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1517_1519delAAG	8.37:g.30945386_30945388delAAG	ENSP00000298139:p.Glu510del		A1KYY9	In_Frame_Del	DEL	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.E510in_frame_del	ENST00000298139.5	37	c.1517_1519	CCDS6082.1	8																																																																																			WRN	-	NULL	ENSG00000165392		0.36	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1		0	64	0	AAG			30945379	1	tier1		no_errors	ENST00000298139	ensembl	human	known	74_37	in_frame_del	8.00	23	2	DEL	0.904:0.908:0.988	-	-	30945379	AAG	-	30945377	7	5	90	1	0	1	0	1	0	0	0	0	17451	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-L5-A8NR-01A-11D-A37C-09	6619043	30945377	115418645	144	25879											
WRN	7486	genome.wustl.edu	37	chr8	30982073	30982073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacgtaatgagaagtttcGattatacaaattaaagatga	18	12	8	3	2	0	3	0	2	0	2	1	6	0	3	0	0	2	2	0	0	8	6	rs374262282		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:30982073G>T	ENST00000298139.5	+	22	2915	c.2666G>T	c.(2665-2667)cGa>cTa	p.R889L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	889	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAGAAGTTTCGATTATACAAA	0.303			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													71	70	70					8																	30982073		2203	4293	6496	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2666G>T	8.37:g.30982073G>T	ENSP00000298139:p.Arg889Leu		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.R889L	ENST00000298139.5	37	c.2666	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047322	0.75846	.	.	ENSG00000165392	ENST00000298139	T	0.51071	0.72	5.58	5.58	0.84498	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.56848	0.2013	L	0.61218	1.895	0.47276	D	0.999373	P;P	0.42961	0.477;0.795	B;P	0.46585	0.101;0.521	T	0.59241	-0.7491	10	0.59425	D	0.04	-9.9485	19.1558	0.93510	0.0:0.0:1.0:0.0	.	299;889	Q59F09;Q14191	.;WRN_HUMAN	L	889	ENSP00000298139:R889L	ENSP00000298139:R889L	R	+	2	0	WRN	31101615	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.447000	0.60020	2.631000	0.89168	0.555000	0.69702	CGA	WRN	-	pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.303	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	59	0	G			30982073	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T	T	30982073	G	T	30982073	3	4	90	1	0	0	0	0	1	0	0	0	17451	1058	37	2	2748	2	WRN	8	30982073	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	36696	30982073	115381949	145	25880											
SNAI2	6591	genome.wustl.edu	37	chr8	49831376	49831376	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgcgtcactcagtgtgctAcacagcagccagattcctca	10	10	8	13	1	3	1	3	0	0	1	4	1	4	1	2	0	5	2	2	0	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:49831376A>G	ENST00000396822.1	-	4	1154	c.797T>C	c.(796-798)gTa>gCa	p.V266A	SNAI2_ENST00000020945.1_Missense_Mutation_p.V266A			O43623	SNAI2_HUMAN	snail family zinc finger 2	266					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TCAGTGTGCTACACAGCAGCC	0.433																																																	0													160	142	148					8																	49831376		2203	4300	6503	SO:0001583	missense	0			U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"Snail homologs", "Zinc fingers, C2H2-type"	11094	protein-coding gene	gene with protein product		602150	"slug homolog, zinc finger protein (chicken)", "snail homolog 2 (Drosophila)"	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.797T>C	8.37:g.49831376A>G	ENSP00000380034:p.Val266Ala		B2R6P6|Q53FC1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V266A	ENST00000396822.1	37	c.797	CCDS6146.1	8	.	.	.	.	.	.	.	.	.	.	A	8.737	0.918107	0.17982	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.10960	2.82;2.82	4.92	2.53	0.30540	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.328915	0.31963	N	0.006781	T	0.06600	0.0169	L	0.29908	0.895	0.46096	D	0.998866	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.07644	T	0.81	-1.343	9.0706	0.36491	0.8492:0.0:0.1508:0.0	.	266	O43623	SNAI2_HUMAN	A	266	ENSP00000020945:V266A;ENSP00000380034:V266A	ENSP00000020945:V266A	V	-	2	0	SNAI2	49993929	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.001000	0.49488	0.324000	0.23333	0.528000	0.53228	GTA	SNAI2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000019549		0.433	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI2	HGNC	protein_coding	OTTHUMT00000313873.2	-	0	80	0	A	NM_003068		49831376	-1	tier1	-	no_errors	ENST00000020945	ensembl	human	known	74_37	missense	21.15	82	22	SNP	1.000	G	G	49831376	A	G	49831376	3	3	90	1	0	0	0	0	1	0	0	0	14872	391	14	4	13	4	SNAI2	8	49831376	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	18849303	49831376	96532646	146	25881											
ATP6V1H	51606	genome.wustl.edu	37	chr8	54727259	54727259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttatccaattgaaatagTaatttaagtcactgccttcc	12	17	4	8	0	1	1	1	1	0	0	3	1	3	1	3	0	1	1	3	0	6	9	rs370437064		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:54727259T>A	ENST00000359530.2	-	6	751	c.488A>T	c.(487-489)tAc>tTc	p.Y163F	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.Y163F|ATP6V1H_ENST00000355221.3_Missense_Mutation_p.Y163F|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.Y123F	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	163					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ATTGAAATAGTAATTTAAGTC	0.333																																																	0													73	76	75					8																	54727259		2203	4297	6500	SO:0001583	missense	0			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"ATPases / V-type"	18303	protein-coding gene	gene with protein product	"vacuolar ATP synthase subunit H"	608861	"ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.488A>T	8.37:g.54727259T>A	ENSP00000352522:p.Tyr163Phe		B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	p.Y163F	ENST00000359530.2	37	c.488	CCDS6153.1	8	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332311	0.41297	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	N	0.21324	0.655	0.80722	D	1	B;B	0.21225	0.01;0.053	B;B	0.33960	0.045;0.173	T	0.45205	-0.9277	9	0.10111	T	0.7	-11.1312	15.727	0.77770	0.0:0.0:0.0:1.0	.	163;163	Q9UI12-2;Q9UI12	.;VATH_HUMAN	F	163;123;163;163	.	ENSP00000347359:Y163F	Y	-	2	0	ATP6V1H	54889812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.013000	0.88655	2.118000	0.64928	0.533000	0.62120	TAC	ATP6V1H	-	pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	ENSG00000047249		0.333	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1H	HGNC	protein_coding	OTTHUMT00000377865.1		0	46	0	T	NM_015941		54727259	-1			no_errors	ENST00000359530	ensembl	human	known	74_37	missense	6.06	60	4	SNP	1.000	A	A	54727259	T	A	54727259	3	1	90	1	0	0	0	0	1	0	0	0	1190	1638	57	5	999	5	ATP6V1H	8	54727259	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	4895883	54727259	91636763	147	25882											
CNBD1	168975	genome.wustl.edu	37	chr8	88365874	88365874	+	Frame_Shift_Del	DEL	A	A	-																															tttttaacagaaaagatctcAaaaacttgtttatatgggga																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:88365874delA	ENST00000518476.1	+	10	1214	c.1163delA	c.(1162-1164)caafs	p.Q388fs		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	388										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AAAAGATCTCAAAAACTTGTT	0.318																																																	0													58	58	58					8																	88365874		1799	4062	5861	SO:0001589	frameshift_variant	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1163delA	8.37:g.88365874delA	ENSP00000430073:p.Gln388fs			Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.K389fs	ENST00000518476.1	37	c.1163	CCDS55259.1	8																																																																																			CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.318	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2		0	83	0	A	NM_173538		88365874	1	tier1		no_errors	ENST00000518476	ensembl	human	known	74_37	frame_shift_del	26.96	84	31	DEL	0.000	-	-	88365874	A	-	88365874	7	5	90	1	0	1	0	1	0	0	0	0	3598	130	5	0	1201	0	CNBD1	8	88365874	Frame_Shift_Del	DEL	A	TCGA-L5-A8NR-01A-11D-A37C-09	33638615	88365874	57998148	148	25883											
FBXO43	286151	genome.wustl.edu	37	chr8	101154374	101154374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgacctgagtgcctttgCgacatcttcaaaatctctgt	8	14	8	11	1	3	2	1	2	2	0	4	3	3	2	2	0	2	1	2	0	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:101154374C>T	ENST00000428847.2	-	2	424	c.108G>A	c.(106-108)tcG>tcA	p.S36S		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	36					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S2S(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTGCCTTTGCGACATCTTCA	0.418																																																	2	Substitution - coding silent(2)	large_intestine(2)											78	82	81					8																	101154374		2001	4179	6180	SO:0001819	synonymous_variant	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"F-boxes /  "other""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.108G>A	8.37:g.101154374C>T				Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.S36	ENST00000428847.2	37	c.108	CCDS47904.1	8																																																																																			FBXO43	-	NULL	ENSG00000156509		0.418	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	-	0	64	0	C	XM_209918		101154374	-1	tier1	-	no_errors	ENST00000428847	ensembl	human	known	74_37	silent	70.91	15	39	SNP	0.561	T	T	101154374	C	T	101154374	2	4	90	1	0	0	0	0	0	0	0	1	5774	755	27	1		1	FBXO43	8	101154374	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	12788500	101154374	45209648	149	25884											
SNX31	169166	genome.wustl.edu	37	chr8	101624292	101624292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactaacataagggagttCaaagtcagccaattttttca	16	11	7	7	0	3	1	3	0	0	1	3	2	3	2	1	1	2	1	1	1	5	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:101624292C>T	ENST00000311812.2	-	7	697	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	SNX31_ENST00000428383.2_Missense_Mutation_p.E84K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	183					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TAAGGGAGTTCAAAGTCAGCC	0.418																																																	0													85	85	85					8																	101624292		2203	4300	6503	SO:0001583	missense	0				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"Sorting nexins"	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.547G>A	8.37:g.101624292C>T	ENSP00000312368:p.Glu183Lys		C9J6L9|Q8N0U9	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E183K	ENST00000311812.2	37	c.547	CCDS6288.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899388	0.91962	.	.	ENSG00000174226	ENST00000311812;ENST00000428383;ENST00000520352	T;T;T	0.59772	1.84;1.31;0.24	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000008	T	0.79329	0.4427	M	0.86953	2.85	0.58432	D	0.999994	D;D	0.89917	1.0;0.999	D;D	0.80764	0.992;0.994	T	0.82127	-0.0611	10	0.87932	D	0	-20.1813	15.8344	0.78787	0.0:1.0:0.0:0.0	.	84;183	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	K	183;84;117	ENSP00000312368:E183K;ENSP00000405024:E84K;ENSP00000428210:E117K	ENSP00000312368:E183K	E	-	1	0	SNX31	101693468	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.922000	0.56462	2.822000	0.97130	0.650000	0.86243	GAA	SNX31	-	NULL	ENSG00000174226		0.418	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX31	HGNC	protein_coding	OTTHUMT00000379910.1	-	0	59	0	C	NM_152628		101624292	-1	tier1	-	no_errors	ENST00000311812	ensembl	human	known	74_37	missense	61.11	28	44	SNP	1.000	T	T	101624292	C	T	101624292	3	4	90	1	0	0	0	0	1	0	0	0	14946	835	29	3	807	3	SNX31	8	101624292	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	469918	101624292	44739730	150	25885											
TRPS1	7227	genome.wustl.edu	37	chr8	116616855	116616855	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactacaaaatttacaccaGtagtaactggtggcctctgt	14	11	7	9	0	1	0	0	0	1	0	1	0	1	0	2	2	4	2	2	2	7	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:116616855G>T	ENST00000220888.5	-	3	1461	c.1302C>A	c.(1300-1302)taC>taA	p.Y434*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.Y438*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.Y447*|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.Y434*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	434					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTACACCAGTAGTAACTGG	0.473									Langer-Giedion syndrome																																								0													64	63	63					8																	116616855		1904	4130	6034	SO:0001587	stop_gained	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"GATA zinc finger domain containing", "Zinc fingers, C2H2-type"	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1302C>A	8.37:g.116616855G>T	ENSP00000220888:p.Tyr434*		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.Y447*	ENST00000220888.5	37	c.1341		8	.	.	.	.	.	.	.	.	.	.	G	38	6.695225	0.97768	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.836	0.70183	0.0689:0.0:0.9311:0.0	.	.	.	.	X	447;434;438;434	.	ENSP00000220888:Y434X	Y	-	3	2	TRPS1	116686030	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.217000	0.58547	1.540000	0.49301	0.655000	0.94253	TAC	TRPS1	-	smart_Znf_C2H2-like	ENSG00000104447		0.473	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0	28	0	G	NM_014112		116616855	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	nonsense	50.00	27	27	SNP	1.000	T	T	116616855	G	T	116616855	4	4	90	1	0	0	0	0	0	1	0	0	16641	1024	36	3	2559	3	TRPS1	8	116616855	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	14992563	116616855	29747167	151	25886											
ADCY8	114	genome.wustl.edu	37	chr8	131964145	131964145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagcgatggatgtagatccGatggaactggtgctgcaggt	10	10	15	6	2	0	1	0	0	0	1	1	5	1	3	1	4	4	3	1	4	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr8:131964145G>A	ENST00000286355.5	-	3	3302	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.R404W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	404					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGTAGATCCGATGGAACTGG	0.527										HNSCC(32;0.087)																																							0													179	134	149					8																	131964145		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1210C>T	8.37:g.131964145G>A	ENSP00000286355:p.Arg404Trp			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R404W	ENST00000286355.5	37	c.1210	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835664	0.71373	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.84873	-1.91;-1.91;-1.91	5.22	1.79	0.24919	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.181563	0.46442	D	0.000289	T	0.81517	0.4839	L	0.46157	1.445	0.31537	N	0.660458	D;D	0.61080	0.975;0.989	B;P	0.45428	0.303;0.48	T	0.83249	-0.0054	10	0.87932	D	0	.	12.5809	0.56390	0.0:0.0:0.3261:0.6739	.	404;404	E7EVL1;P40145	.;ADCY8_HUMAN	W	404;404;19	ENSP00000286355:R404W;ENSP00000367161:R404W;ENSP00000428010:R19W	ENSP00000286355:R404W	R	-	1	2	ADCY8	132033327	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.510000	0.45468	0.630000	0.30394	-0.181000	0.13052	CGG	ADCY8	-	superfamily_A/G_cyclase,smart_A/G_cyclase	ENSG00000155897		0.527	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	48	0	G			131964145	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	46.97	35	31	SNP	0.996	A	A	131964145	G	A	131964145	3	1	90	1	0	0	0	0	1	0	0	0	300	1057	37	1	2609	1	ADCY8	8	131964145	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	15347290	131964145	14399877	152	25887											
C9orf131	138724	genome.wustl.edu	37	chr9	35045584	35045584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagtagaggcccctgtaagCacatttccccaaaggtctca	11	9	8	13	0	1	1	1	0	1	1	3	1	2	1	4	2	1	3	4	2	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:35045584C>T	ENST00000312292.5	+	2	3005	c.2958C>T	c.(2956-2958)agC>agT	p.S986S	C9orf131_ENST00000421362.2_Silent_p.S938S|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Silent_p.S913S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	986										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCCCTGTAAGCACATTTCCCC	0.577																																																	0													83	87	86					9																	35045584		2203	4300	6503	SO:0001819	synonymous_variant	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2958C>T	9.37:g.35045584C>T			A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	NULL	p.S986	ENST00000312292.5	37	c.2958	CCDS6572.2	9																																																																																			C9orf131	-	NULL	ENSG00000174038		0.577	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	-	0	46	0	C	NM_203299		35045584	1	tier1	-	no_errors	ENST00000312292	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.001	T	T	35045584	C	T	35045584	2	4	90	1	0	0	0	0	0	0	0	1	2464	709	25	3		3	C9orf131	9	35045584	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		35045584	106167847	153	25888											
CREB3	7094	genome.wustl.edu	37	chr9	35732839	35732839	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaggaaagtggagatttgGggacggcacccgatgaggcc	11	6	17	7	2	0	3	0	1	0	2	0	7	0	5	2	6	0	1	2	6	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:35732839G>T	ENST00000314888.9	-	0	0				CREB3_ENST00000353704.2_Missense_Mutation_p.G24W|CREB3_ENST00000486056.1_3'UTR|TLN1_ENST00000540444.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGAGATTTGGGGACGGCACC	0.602																																																	0													82	83	82					9																	35732839		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35732839G>T	Exception_encountered		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.G24W	ENST00000314888.9	37	c.70	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	0.639	-0.814263	0.02798	.	.	ENSG00000107175	ENST00000353704	T	0.63744	-0.06	4.83	1.77	0.24775	.	1.385440	0.04789	N	0.431374	T	0.50034	0.1592	N	0.20685	0.6	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.41998	-0.9477	10	0.52906	T	0.07	.	9.846	0.41028	0.0741:0.0:0.6748:0.2511	.	24	O43889-2	.	W	24	ENSP00000342136:G24W	ENSP00000342136:G24W	G	+	1	0	CREB3	35722839	0.026000	0.19158	0.010000	0.14722	0.003000	0.03518	0.225000	0.17757	-0.081000	0.12662	-2.615000	0.00158	GGG	CREB3	-	NULL	ENSG00000107175		0.602	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	89	0	G	NM_006289		35732839	1	tier1	-	no_errors	ENST00000353704	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.051	T	T	35732839	G	T	35732839	1	4	90	0	1	0	0	0	0	0	0	0	3862	1232	43	3		3	CREB3	9	35732839	5'Flank	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	687255	35732839	105480592	154	25889											
GCNT1	2650	genome.wustl.edu	37	chr9	79117381	79117383	+	In_Frame_Del	DEL	CTT	CTT	-																															cttgttttatccctaatcacCttctccgttttaaggattca																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:79117381_79117383delCTT	ENST00000376730.4	+	4	567_569	c.84_86delCTT	c.(82-87)accttc>acc	p.F29del	GCNT1_ENST00000444201.2_In_Frame_Del_p.F29del|GCNT1_ENST00000442371.1_In_Frame_Del_p.F29del|GCNT1_ENST00000536223.1_In_Frame_Del_p.F29del	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	29					cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CCCTAATCACCTTCTCCGTTTTA	0.389																																																	0																																										SO:0001651	inframe_deletion	0			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	4203	protein-coding gene	gene with protein product	"core 2 beta1,6 N-acetylglucosaminyltransferase-I", "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"	600391	"glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.84_86delCTT	9.37:g.79117381_79117383delCTT	ENSP00000365920:p.Phe29del		Q6DJZ4	In_Frame_Del	DEL	pfam_Glyco_trans_14	p.F29in_frame_del	ENST00000376730.4	37	c.84_86	CCDS6653.1	9																																																																																			GCNT1	-	NULL	ENSG00000187210		0.389	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT1	HGNC	protein_coding	OTTHUMT00000052725.1		0	72	0	CTT	NM_001097634		79117383	1	tier1		no_errors	ENST00000376730	ensembl	human	known	74_37	in_frame_del	20.59	54	14	DEL	0.943:0.997:1.000	-	-	79117383	CTT	-	79117381	7	5	90	1	0	1	0	1	0	0	0	0	6325	668	24	0	86	0	GCNT1	9	79117381	In_Frame_Del	DEL	CTT	TCGA-L5-A8NR-01A-11D-A37C-09	43384542	79117381	62096050	155	25890											
FLJ46321	389763	genome.wustl.edu	37	chr9	84607806	84607806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagagacctagaaacTcatatgatgcatctgtcagg	13	10	10	8	0	4	4	2	2	2	3	4	6	4	4	1	1	2	1	1	1	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:84607806T>C	ENST00000344803.2	+	4	2468	c.2421T>C	c.(2419-2421)acT>acC	p.T807T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	807					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCTAGAAACTCATATGATGC	0.458																																																	0													73	71	71					9																	84607806		1871	4091	5962	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2421T>C	9.37:g.84607806T>C				Silent	SNP	NULL	p.T807	ENST00000344803.2	37	c.2421	CCDS47986.1	9																																																																																			SPATA31D1	-	NULL	ENSG00000214929		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	87	0	T	NM_001001670		84607806	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	silent	23.08	50	15	SNP	0.000	C	C	84607806	T	C	84607806	2	2	90	1	0	0	0	0	0	0	0	1	5954	1538	54	4		4	FLJ46321	9	84607806	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	5490425	84607806	56605625	156	25891											
DAPK1	1612	genome.wustl.edu	37	chr9	90254585	90254585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctgagatagtcaactatGaacctcttggtcttgaggca	10	12	9	10	0	3	3	1	3	2	1	4	4	4	3	2	2	2	1	2	2	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:90254585G>A	ENST00000408954.3	+	6	909	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	DAPK1_ENST00000358077.5_Missense_Mutation_p.E192K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E192K|DAPK1_ENST00000472284.1_Missense_Mutation_p.E192K|DAPK1_ENST00000469640.2_Missense_Mutation_p.E192K	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGTCAACTATGAACCTCTTGG	0.388									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													361	320	333					9																	90254585		1924	4129	6053	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.574G>A	9.37:g.90254585G>A	ENSP00000386135:p.Glu192Lys		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.E192K	ENST00000408954.3	37	c.574	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.516372	0.96402	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000057	T	0.73938	0.3651	L	0.41079	1.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.992;0.995;0.991	T	0.75077	-0.3445	10	0.87932	D	0	.	19.6142	0.95626	0.0:0.0:1.0:0.0	.	192;192;192	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	K	192	ENSP00000350785:E192K;ENSP00000417076:E192K;ENSP00000418885:E192K;ENSP00000386135:E192K;ENSP00000419026:E192K	ENSP00000350785:E192K	E	+	1	0	DAPK1	89444405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.941000	0.99782	0.655000	0.94253	GAA	DAPK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196730		0.388	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0	116	0	G	NM_004938		90254585	1			no_errors	ENST00000469640	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A	A	90254585	G	A	90254585	3	1	90	1	0	0	0	0	1	0	0	0	4244	1291	45	3	592	3	DAPK1	9	90254585	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	5646779	90254585	50958846	157	25892											
DAPK1	1612	genome.wustl.edu	37	chr9	90321700	90321700	+	Frame_Shift_Del	DEL	C	C	-																															accgtgaagcattacctgagCccccagcagctgcgggagca																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:90321700delC	ENST00000408954.3	+	26	4049	c.3714delC	c.(3712-3714)agcfs	p.S1238fs	DAPK1_ENST00000358077.5_Frame_Shift_Del_p.S1238fs|DAPK1_ENST00000491893.1_Frame_Shift_Del_p.S1172fs|DAPK1_ENST00000472284.1_Frame_Shift_Del_p.S1238fs|DAPK1_ENST00000469640.2_Frame_Shift_Del_p.S1263fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1238					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATTACCTGAGCCCCCAGCAGC	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													29	33	32					9																	90321700		2130	4248	6378	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3714delC	9.37:g.90321700delC	ENSP00000386135:p.Ser1238fs		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.Q1265fs	ENST00000408954.3	37	c.3789	CCDS43842.1	9																																																																																			DAPK1	-	NULL	ENSG00000196730		0.597	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0	25	0	C	NM_004938		90321700	1	tier1		no_errors	ENST00000469640	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	90321700	C	-	90321700	7	5	90	1	0	1	0	1	0	0	0	0	4244	738	26	0	3812	0	DAPK1	9	90321700	Frame_Shift_Del	DEL	C	TCGA-L5-A8NR-01A-11D-A37C-09	67115	90321700	50891731	158	25893											
CTSL1	1514	genome.wustl.edu	37	chr9	90343605	90343605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtgagcagaatctggtaGactgctctgggcctcaaggc	9	9	14	9	0	3	4	1	2	2	2	3	4	3	4	1	3	2	3	1	3	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:90343605G>C	ENST00000343150.5	+	5	1392	c.502G>C	c.(502-504)Gac>Cac	p.D168H	CTSL_ENST00000342020.5_Missense_Mutation_p.D168H|CTSL_ENST00000340342.6_Missense_Mutation_p.D168H|CTSL_ENST00000495822.1_Intron			P07711	CATL1_HUMAN	cathepsin L	168					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										GAATCTGGTAGACTGCTCTGG	0.493																																																	0													136	133	134					9																	90343605		2203	4300	6503	SO:0001583	missense	0			X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"Cathepsins"	2537	protein-coding gene	gene with protein product		116880	"cathepsin L1"	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.502G>C	9.37:g.90343605G>C	ENSP00000345344:p.Asp168His		Q6IAV1|Q96QJ0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.D168H	ENST00000343150.5	37	c.502	CCDS6675.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105810	0.77096	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.32753	1.44;1.44;1.44	4.51	3.59	0.41128	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85935	0.1454	10	0.87932	D	0	.	14.457	0.67423	0.0:0.1481:0.8518:0.0	.	168	P07711	CATL1_HUMAN	H	168	ENSP00000345344:D168H;ENSP00000365061:D168H;ENSP00000340470:D168H	ENSP00000365061:D168H	D	+	1	0	CTSL1	89533425	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	6.834000	0.75339	1.066000	0.40716	0.655000	0.94253	GAC	CTSL	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000135047		0.493	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL	HGNC	protein_coding	OTTHUMT00000052936.1	-	0	67	0	G	NM_001912		90343605	1	tier1	-	no_errors	ENST00000340342	ensembl	human	known	74_37	missense	14.71	57	10	SNP	1.000	C	C	90343605	G	C	90343605	3	2	90	1	0	0	0	0	1	0	0	0	4047	942	33	5	516	5	CTSL1	9	90343605	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	21905	90343605	50869826	159	25894											
OR13C8	138802	genome.wustl.edu	37	chr9	107332000	107332000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgtgaaattctggctatCttgaaactggcctgtgctga	8	14	11	8	0	3	3	0	3	3	0	3	3	3	3	1	2	2	2	1	2	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:107332000C>T	ENST00000335040.1	+	1	552	c.552C>T	c.(550-552)atC>atT	p.I184I		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTCTGGCTATCTTGAAACTGG	0.383																																																	0													173	168	170					9																	107332000		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"GPCR / Class A : Olfactory receptors"	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.552C>T	9.37:g.107332000C>T			Q5VVG0|Q96R44	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I184	ENST00000335040.1	37	c.552	CCDS35090.1	9																																																																																			OR13C8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186943		0.383	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	HGNC	protein_coding	OTTHUMT00000053480.1		0	47	0	C			107332000	1			no_errors	ENST00000335040	ensembl	human	known	74_37	silent	6.45	26	2	SNP	0.000	T	T	107332000	C	T	107332000	2	4	90	1	0	0	0	0	0	0	0	1	10977	903	32	3		3	OR13C8	9	107332000	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	16988395	107332000	33881431	160	25895											
OR13C5	138799	genome.wustl.edu	37	chr9	107360878	107360878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtttgtcagtggcatccaAgtcatctgaattaagtgtct	11	14	9	7	0	4	1	2	1	2	0	5	1	5	1	1	1	0	2	1	1	4	2	rs141268591		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:107360878A>C	ENST00000374779.2	-	1	910	c.817T>G	c.(817-819)Ttg>Gtg	p.L273V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L273M(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGGCATCCAAGTCATCTGAA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)											136	126	129					9																	107360878		2203	4300	6503	SO:0001583	missense	0				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.817T>G	9.37:g.107360878A>C	ENSP00000363911:p.Leu273Val		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L273V	ENST00000374779.2	37	c.817	CCDS35091.1	9	.	.	.	.	.	.	.	.	.	.	A	0.054	-1.241859	0.01493	.	.	ENSG00000255800	ENST00000374779	T	0.37235	1.21	3.14	-6.29	0.02013	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.12502	-1.0545	9	0.20519	T	0.43	.	1.7013	0.02873	0.1241:0.3406:0.1955:0.3397	.	273	Q8NGS8	O13C5_HUMAN	V	273	ENSP00000363911:L273V	ENSP00000363911:L273V	L	-	1	2	OR13C5	106400699	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.328000	0.07945	-3.187000	0.00220	0.347000	0.21830	TTG	OR13C5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255800		0.428	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	HGNC	protein_coding	OTTHUMT00000053479.2	-	0	58	0	A	NM_001004482		107360878	-1	tier1	-	no_errors	ENST00000374779	ensembl	human	known	74_37	missense	52.11	34	37	SNP	0.000	C	C	107360878	A	C	107360878	3	2	90	1	0	0	0	0	1	0	0	0	10976	69	3	4	141	4	OR13C5	9	107360878	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	28878	107360878	33852553	161	25896											
RABEPK	10244	genome.wustl.edu	37	chr9	127975666	127975666	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaaaacaccagtgggacTtagatacctgcaagggcctc	13	6	11	11	0	0	1	0	0	0	1	1	3	0	3	3	3	3	1	3	3	5	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:127975666T>G	ENST00000373538.3	+	4	539	c.229T>G	c.(229-231)Tta>Gta	p.L77V	RABEPK_ENST00000394124.4_Missense_Mutation_p.L77V|RABEPK_ENST00000394125.4_Missense_Mutation_p.L77V|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373544.1_Missense_Mutation_p.L77V	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	77					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CCAGTGGGACTTAGATACCTG	0.493																																																	0													124	116	119					9																	127975666		2203	4300	6503	SO:0001583	missense	0			BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.229T>G	9.37:g.127975666T>G	ENSP00000362639:p.Leu77Val		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1	p.L77V	ENST00000373538.3	37	c.229	CCDS6862.1	9	.	.	.	.	.	.	.	.	.	.	T	8.636	0.894931	0.17613	.	.	ENSG00000136933	ENST00000394125;ENST00000373544;ENST00000394124;ENST00000373538;ENST00000416065	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.47	-1.17	0.09648	Galactose oxidase, beta-propeller (1);	1.232540	0.05721	N	0.597690	T	0.13841	0.0335	L	0.34521	1.04	0.09310	N	1	B;B	0.24317	0.101;0.036	B;B	0.28916	0.096;0.05	T	0.36407	-0.9749	10	0.29301	T	0.29	-0.0224	0.3915	0.00411	0.3991:0.206:0.147:0.2479	.	77;77	Q7Z6M1;Q5T1S4	RABEK_HUMAN;.	V	77;77;77;77;160	ENSP00000377683:L77V;ENSP00000362645:L77V;ENSP00000377682:L77V;ENSP00000362639:L77V;ENSP00000402234:L160V	ENSP00000362639:L77V	L	+	1	2	RABEPK	127015487	0.010000	0.17322	0.005000	0.12908	0.663000	0.39108	1.401000	0.34589	0.055000	0.16094	0.482000	0.46254	TTA	RABEPK	-	pfam_Kelch_2	ENSG00000136933		0.493	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEPK	HGNC	protein_coding	OTTHUMT00000054064.1	-	0	43	0	T	NM_005833		127975666	1	tier1	-	no_errors	ENST00000373538	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.000	G	G	127975666	T	G	127975666	3	3	90	1	0	0	0	0	1	0	0	0	13008	1606	56	4	239	4	RABEPK	9	127975666	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	20614788	127975666	13237765	162	25897											
WDR34	89891	genome.wustl.edu	37	chr9	131403138	131403138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaggcacgggggcctcCgtctgcacctgggcgtccac	5	6	14	16	3	1	1	0	1	1	0	3	1	3	1	4	4	1	2	4	4	0	0	rs137886760		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:131403138C>T	ENST00000372715.2	-	2	327	c.267G>A	c.(265-267)acG>acA	p.T89T		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	89						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)		p.T89T(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGGGGGCCTCCGTCTGCACCT	0.632																																																	1	Substitution - coding silent(1)	lung(1)						C		0,4406		0,0,2203	45	44	44		267	-10.7	0.3	9	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR34	NM_052844.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		89/537	131403138	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"WD repeat domain containing"	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.267G>A	9.37:g.131403138C>T			Q5VXV4|Q9BV46	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.T89	ENST00000372715.2	37	c.267	CCDS6906.2	9																																																																																			WDR34	-	NULL	ENSG00000119333		0.632	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR34	HGNC	protein_coding	OTTHUMT00000054463.1	-	0	44	0	C	NM_052844		131403138	-1	tier1	rs137886760	no_errors	ENST00000372715	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.030	T	T	131403138	C	T	131403138	2	4	90	1	0	0	0	0	0	0	0	1	17337	639	23	1		1	WDR34	9	131403138	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3427472	131403138	9810293	163	25898											
SETX	23064	genome.wustl.edu	37	chr9	135204702	135204702	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagagaaatcttcattCgatgtggacactttttccaa	13	15	6	7	1	2	1	1	0	1	1	4	4	3	2	1	1	0	0	1	1	4	6	rs370328795		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:135204702C>A	ENST00000224140.5	-	10	2465	c.2283G>T	c.(2281-2283)tcG>tcT	p.S761S	SETX_ENST00000393220.1_Silent_p.S761S|SETX_ENST00000372169.2_Silent_p.S761S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	761					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATCTTCATTCGATGTGGACA	0.368																																																	0													118	114	116					9																	135204702		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"amyotrophic lateral sclerosis 4", "spinocerebellar ataxia, recessive, non-Friedreich type 1"	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2283G>T	9.37:g.135204702C>A			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	superfamily_P-loop_NTPase	p.S761	ENST00000224140.5	37	c.2283	CCDS6947.1	9																																																																																			SETX	-	NULL	ENSG00000107290		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3		0	34	0	C	NM_015046		135204702	-1			no_errors	ENST00000372169	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.031	A	A	135204702	C	A	135204702	2	1	90	1	0	0	0	0	0	0	0	1	14186	871	31	2		2	SETX	9	135204702	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3801564	135204702	6008729	164	25899											
GTF3C4	9329	genome.wustl.edu	37	chr9	135555136	135555136	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactagcatccccacccgCggactctgtaactttttaat	11	11	5	14	2	1	0	0	0	1	0	2	1	2	1	3	1	3	2	3	1	4	5	rs139080117	byFrequency	TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:135555136C>T	ENST00000372146.4	+	2	2694	c.2130C>T	c.(2128-2130)cgC>cgT	p.R710R		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	710					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TCCCCACCCGCGGACTCTGTA	0.443													C|||	2	0.000399361	0	0	5008	,	,		19191	0		0.002	False		,,,				2504	0				Pancreas(142;417 1875 11086 31973 47667)												0								C		0,4406		0,0,2203	86	82	83		2130	0	0.9	9	dbSNP_134	83	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	GTF3C4	NM_012204.2		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		710/823	135555136	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	0			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"Chromatin-modifying enzymes / K-acetyltransferases", "General transcription factors"	4667	protein-coding gene	gene with protein product		604892	"general transcription factor IIIC, polypeptide 4 (90kD)"			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.2130C>T	9.37:g.135555136C>T			Q5VZJ7	Silent	SNP	superfamily_WD40_repeat_dom	p.R710	ENST00000372146.4	37	c.2130	CCDS6953.1	9																																																																																			GTF3C4	-	NULL	ENSG00000125484		0.443	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1		0	44	0	C			135555136	1			no_errors	ENST00000372146	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.986	T	T	135555136	C	T	135555136	2	4	90	1	0	0	0	0	0	0	0	1	6902	755	27	1		1	GTF3C4	9	135555136	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	350434	135555136	5658295	165	25900											
CEL	1056	genome.wustl.edu	37	chr9	135947058	135947058	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgggtgactccggggccccCcctgtgccccccacgggtga	4	5	14	18	3	0	2	0	2	0	0	1	2	1	2	7	4	1	0	7	4	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:135947058C>A	ENST00000372080.4	+	11	2194	c.2178C>A	c.(2176-2178)ccC>ccA	p.P726P	CEL_ENST00000351304.7_Silent_p.P657P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	723	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CCGGGGCCCCCCCTGTGCCCC	0.716																																																	0													11	13	13					9																	135947058		1745	3970	5715	SO:0001819	synonymous_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2178C>A	9.37:g.135947058C>A			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.P726	ENST00000372080.4	37	c.2178	CCDS43896.1	9																																																																																			CEL	-	NULL	ENSG00000170835		0.716	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0	29	0	C			135947058	1	tier1	-	no_errors	ENST00000372080	ensembl	human	known	74_37	silent	42.86	16	12	SNP	0.011	A	A	135947058	C	A	135947058	2	1	90	1	0	0	0	0	0	0	0	1	3216	610	22	3		3	CEL	9	135947058	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	391922	135947058	5266373	166	25901											
OBP2A	29991	genome.wustl.edu	37	chr9	138439069	138439069	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcctgatgcggaagacGgaggagcctggcaaattcag	14	6	13	8	2	1	2	1	1	0	1	2	5	2	5	2	4	2	1	2	4	4	1	rs372804933		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:138439069G>A	ENST00000539850.1	+	3	278	c.252G>A	c.(250-252)acG>acA	p.T84T	OBP2A_ENST00000371776.1_Silent_p.T84T|OBP2A_ENST00000342114.4_Missense_Mutation_p.G40R|OBP2A_ENST00000340780.3_Silent_p.T84T			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	84					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TGCGGAAGACGGAGGAGCCTG	0.642																																																	0								G		0,4406		0,0,2203	92	85	87		252	-5.1	0	9		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	OBP2A	NM_014582.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		84/171	138439069	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"Lipocalins"	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.252G>A	9.37:g.138439069G>A			Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	superfamily_Calycin-like	p.G40R	ENST00000539850.1	37	c.118	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642606	0.29246	0.0	1.16E-4	ENSG00000122136	ENST00000342114	T	0.09445	2.98	2.55	-5.1	0.02911	.	.	.	.	.	T	0.07052	0.0179	.	.	.	0.09310	N	1	B	0.22604	0.072	B	0.14578	0.011	T	0.34650	-0.9820	8	0.72032	D	0.01	-24.9717	6.2004	0.20573	0.2341:0.5311:0.2348:0.0	.	40	Q5T8A4	.	R	40	ENSP00000340950:G40R	ENSP00000340950:G40R	G	+	1	0	OBP2A	137578890	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.063000	0.00302	-1.273000	0.02424	-0.532000	0.04303	GGA	OBP2A	-	NULL	ENSG00000122136		0.642	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	-	0	207	0	G	NM_014582		138439069	1	tier1	-	no_errors	ENST00000342114	ensembl	human	known	74_37	missense	27.27	120	45	SNP	0.000	A	A	138439069	G	A	138439069	2	1	90	1	0	0	0	0	0	0	0	1	10849	1103	39	1		1	OBP2A	9	138439069	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2492011	138439069	2774362	167	25902											
SOHLH1	402381	genome.wustl.edu	37	chr9	138585580	138585580	+	3'UTR	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctcagggtcccctaggaAgcctggctctccaacatcca	10	7	9	15	0	2	0	1	0	1	0	5	1	4	1	5	3	3	2	5	3	4	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:138585580A>C	ENST00000298466.5	-	0	1659				SOHLH1_ENST00000425225.1_Missense_Mutation_p.F343V	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TCCCCTAGGAAGCCTGGCTCT	0.647																																																	0													16	19	18					9																	138585580		1947	4139	6086	SO:0001624	3_prime_UTR_variant	0			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"Basic helix-loop-helix proteins"	27845	protein-coding gene	gene with protein product	"spermatogenesis associated 27"	610224	"chromosome 9 open reading frame 157"	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.*612T>G	9.37:g.138585580A>C			C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.F343V	ENST00000298466.5	37	c.1027	CCDS35174.1	9	.	.	.	.	.	.	.	.	.	.	A	15.97	2.990570	0.54041	.	.	ENSG00000165643	ENST00000425225	T	0.49720	0.77	4.78	-0.73	0.11154	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	B	0.28713	0.22	B	0.33196	0.159	T	0.39722	-0.9600	8	0.87932	D	0	.	0.5628	0.00682	0.444:0.1752:0.2116:0.1692	.	343	Q5JUK2-2	.	V	343	ENSP00000404438:F343V	ENSP00000404438:F343V	F	-	1	0	SOHLH1	137725401	0.932000	0.31603	0.003000	0.11579	0.002000	0.02628	2.004000	0.40854	-0.282000	0.09128	-1.090000	0.02178	TTC	SOHLH1	-	NULL	ENSG00000165643		0.647	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	HGNC	protein_coding	OTTHUMT00000055018.2	-	0	62	0	A	NM_001012415		138585580	-1	tier1	-	no_errors	ENST00000425225	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.005	C	C	138585580	A	C	138585580	1	2	90	0	1	0	0	0	0	0	0	0	14968	72	3	4		4	SOHLH1	9	138585580	3'UTR	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	146511	138585580	2627851	168	25903											
KIAA1984	84960	genome.wustl.edu	37	chr9	139701045	139701045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacatgaccaagggccAggagctgctgctgaccatcc	11	5	11	14	0	0	2	0	2	0	0	1	3	1	3	4	2	5	4	4	2	2	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr9:139701045A>G	ENST00000338005.6	+	11	1234	c.1199A>G	c.(1198-1200)cAg>cGg	p.Q400R	RABL6_ENST00000371671.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RABL6_ENST00000357466.2_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000311502.7_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		400										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACCAAGGGCCAGGAGCTGCTG	0.557																																																	0													40	48	45					9																	139701045		2113	4223	6336	SO:0001583	missense	0																														ENST00000338005.6:c.1199A>G	9.37:g.139701045A>G	ENSP00000338013:p.Gln400Arg		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.Q400R	ENST00000338005.6	37	c.1199	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	A	14.39	2.521651	0.44866	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.13901	2.55	4.77	4.77	0.60923	.	.	.	.	.	T	0.24122	0.0584	L	0.56769	1.78	0.80722	D	1	D	0.58268	0.982	P	0.58077	0.832	T	0.03706	-1.1011	9	0.16420	T	0.52	-27.8933	10.9778	0.47475	1.0:0.0:0.0:0.0	.	400	Q5T5S1	K1984_HUMAN	R	400	ENSP00000338013:Q400R	ENSP00000338013:Q400R	Q	+	2	0	KIAA1984	138820866	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	3.885000	0.56182	1.897000	0.54924	0.459000	0.35465	CAG	KIAA1984	-	NULL	ENSG00000213213		0.557	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	-	0	44	0	A			139701045	1	tier1	-	no_errors	ENST00000338005	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	G	G	139701045	A	G	139701045	3	3	90	1	0	0	0	0	1	0	0	0	8293	188	7	4	1241	4	KIAA1984	9	139701045	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	1115465	139701045	1512386	169	25904											
CELF2	10659	genome.wustl.edu	37	chr10	11363231	11363231	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaatggcacggctggcacCatggacgccctcacccaggc	9	4	12	16	3	1	0	1	0	0	0	1	2	1	1	3	5	0	3	3	5	1	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:11363231C>A	ENST00000379261.4	+	11	1229	c.1137C>A	c.(1135-1137)acC>acA	p.T379T	CELF2_ENST00000609692.1_Silent_p.T359T|CELF2_ENST00000450189.1_Silent_p.T392T|CELF2_ENST00000537122.1_Silent_p.T274T|CELF2_ENST00000416382.2_Silent_p.T379T|CELF2_ENST00000608830.1_Silent_p.T359T|CELF2_ENST00000427450.1_Silent_p.T361T|CELF2_ENST00000315874.4_Silent_p.T361T|CELF2_ENST00000417956.2_Silent_p.T359T|CELF2_ENST00000354897.3_Silent_p.T373T|CELF2_ENST00000542579.1_Silent_p.T392T|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000399850.3_Silent_p.T361T|CELF2_ENST00000354440.2_Silent_p.T361T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	379	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGGCTGGCACCATGGACGCCC	0.582																																																	0													112	107	109					10																	11363231		2074	4218	6292	SO:0001819	synonymous_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"RNA binding motif (RRM) containing"	2550	protein-coding gene	gene with protein product		602538	"CUG triplet repeat, RNA-binding protein 2", "CUG triplet repeat, RNA binding protein 2"	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1137C>A	10.37:g.11363231C>A			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.T392	ENST00000379261.4	37	c.1176	CCDS44354.1	10																																																																																			CELF2	-	NULL	ENSG00000048740		0.582	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0	57	0	C			11363231	1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.994	A	A	11363231	C	A	11363231	2	1	90	1	0	0	0	0	0	0	0	1	3223	581	21	3		3	CELF2	10	11363231	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		11363231	124171516	170	25905											
UPF2	26019	genome.wustl.edu	37	chr10	12009383	12009386	+	Frame_Shift_Del	DEL	TTAG	TTAG	-																															ttttggtgaacatcttaaacTtagttagttctcctataaaa																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	TTAG	TTAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:12009383_12009386delTTAG	ENST00000356352.2	-	9	2494_2497	c.2021_2024delCTAA	c.(2020-2025)actaagfs	p.TK674fs	UPF2_ENST00000357604.5_Frame_Shift_Del_p.TK674fs|UPF2_ENST00000397053.2_Frame_Shift_Del_p.TK674fs			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	674	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CATCTTAAACTTAGTTAGTTCTCC	0.265																																																	0																																										SO:0001589	frameshift_variant	0			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2021_2024delCTAA	10.37:g.12009387_12009390delTTAG	ENSP00000348708:p.Thr674fs		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Frame_Shift_Del	DEL	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.T674fs	ENST00000356352.2	37	c.2024_2021	CCDS7086.1	10																																																																																			UPF2	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	ENSG00000151461		0.265	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1		0	63	0	TTAG			12009386	-1	tier1		no_errors	ENST00000356352	ensembl	human	known	74_37	frame_shift_del	27.69	47	18	DEL	1.000:1.000:0.962:1.000	-	-	12009386	TTAG	-	12009383	7	5	90	1	0	1	0	1	0	0	0	0	17053	1609	56	0	1846	0	UPF2	10	12009383	Frame_Shift_Del	DEL	TTAG	TCGA-L5-A8NR-01A-11D-A37C-09	646152	12009383	123525364	171	25906											
ITGA8	8516	genome.wustl.edu	37	chr10	15649741	15649741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcacaagagggaagaCgcgatgagcctgatggttat	12	11	12	6	2	1	4	1	2	0	2	1	6	1	5	1	2	1	1	1	2	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:15649741C>T	ENST00000378076.3	-	17	2052	c.1699G>A	c.(1699-1701)Gtc>Atc	p.V567I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	567			V -> L. {ECO:0000269|PubMed:15579315}.		brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGAGGGAAGACGCGATGAGCC	0.458																																																	0													177	175	176					10																	15649741		2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1699G>A	10.37:g.15649741C>T	ENSP00000367316:p.Val567Ile		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V567I	ENST00000378076.3	37	c.1699	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	5.424	0.263421	0.10294	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.42131	0.98	5.83	-7.7	0.01259	Integrin alpha-2 (1);	1.506000	0.03343	N	0.195106	T	0.15132	0.0365	N	0.02539	-0.55	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.04013	0.001;0.001	T	0.21895	-1.0232	10	0.11182	T	0.66	.	8.6536	0.34049	0.2281:0.205:0.0:0.5669	.	552;567	F5H818;P53708	.;ITA8_HUMAN	I	567;552	ENSP00000367316:V567I	ENSP00000367316:V567I	V	-	1	0	ITGA8	15689747	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.680000	0.00837	-1.874000	0.01133	-0.203000	0.12734	GTC	ITGA8	-	pfam_Integrin_alpha-2	ENSG00000077943		0.458	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	54	0	C	NM_003638		15649741	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.000	T	T	15649741	C	T	15649741	3	4	90	1	0	0	0	0	1	0	0	0	7909	536	19	1	1548	1	ITGA8	10	15649741	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3640358	15649741	119885006	172	25907											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702528	27702528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgggtccagcagtgagtCgctgtaggagaccaccagaa	11	6	14	10	1	0	3	0	1	0	2	2	4	1	3	3	2	2	4	3	2	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:27702528C>T	ENST00000438700.3	-	1	769	c.652G>A	c.(652-654)Gac>Aac	p.D218N		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	218					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGCAGTGAGTCGCTGTAGGAG	0.602																																																	0													44	46	45					10																	27702528		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.652G>A	10.37:g.27702528C>T	ENSP00000417658:p.Asp218Asn		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.D218N	ENST00000438700.3	37	c.652	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	8.138	0.784661	0.16189	.	.	ENSG00000182077	ENST00000438700	D	0.85702	-2.02	3.78	-1.94	0.07571	.	1.442900	0.04027	N	0.300732	T	0.69806	0.3152	N	0.12746	0.255	0.09310	N	1	B	0.26935	0.164	B	0.25759	0.063	T	0.56529	-0.7964	10	0.20046	T	0.44	-0.3896	6.03	0.19675	0.0:0.4729:0.1244:0.4027	.	218	Q3KNS1	PTHD3_HUMAN	N	218	ENSP00000417658:D218N	ENSP00000417658:D218N	D	-	1	0	PTCHD3	27742534	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.807000	0.04520	-0.301000	0.08882	0.561000	0.74099	GAC	PTCHD3	-	pfam_Patched	ENSG00000182077		0.602	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	-	0	50	0	C	XM_370541		27702528	-1	tier1	-	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.000	T	T	27702528	C	T	27702528	3	4	90	1	0	0	0	0	1	0	0	0	12776	884	31	1	1667	1	PTCHD3	10	27702528	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	12052787	27702528	107832219	173	25908											
CTNNA3	29119	genome.wustl.edu	37	chr10	68040264	68040264	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatctgatatcatgaatTgtatcatagatcttctttga	13	16	6	6	0	5	4	2	3	3	1	5	5	5	4	0	0	1	1	0	0	5	6	rs182490263		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:68040264T>C	ENST00000433211.2	-	13	2022	c.1848A>G	c.(1846-1848)acA>acG	p.T616T	CTNNA3_ENST00000373744.4_Silent_p.T616T	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.T616T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCATGAATTGTATCATAGA	0.368																																																	2	Substitution - coding silent(2)	lung(2)											172	166	168					10																	68040264		2203	4300	6503	SO:0001819	synonymous_variant	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1848A>G	10.37:g.68040264T>C				Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.T616	ENST00000433211.2	37	c.1848	CCDS7269.1	10																																																																																			CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000183230		0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2		0	34	0	T	NM_013266		68040264	-1			no_errors	ENST00000373744	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.999	C	C	68040264	T	C	68040264	2	2	90	1	0	0	0	0	0	0	0	1	4023	1799	63	4		4	CTNNA3	10	68040264	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	40337736	68040264	67494483	174	25909											
ZMYND17	118490	genome.wustl.edu	37	chr10	75187850	75187850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatagcttttcatgttcaGcttttgaaggatcagctgcg	8	16	9	8	1	4	1	4	1	0	0	4	2	4	2	0	1	4	4	0	1	2	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:75187850G>T	ENST00000372912.1	-	1	195	c.193C>A	c.(193-195)Ctg>Atg	p.L65M	MSS51_ENST00000299432.2_Missense_Mutation_p.L65M|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	65					social behavior (GO:0035176)		metal ion binding (GO:0046872)										TTCATGTTCAGCTTTTGAAGG	0.448																																																	0													98	98	98					10																	75187850		2203	4300	6503	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"Zinc fingers, MYND-type"	21000	protein-coding gene	gene with protein product		614773	"zinc finger, MYND-type containing 17", "MSS51 mitochondrial translational activator homolog (S. cerevisiae)"	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.193C>A	10.37:g.75187850G>T	ENSP00000362003:p.Leu65Met		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.L65M	ENST00000372912.1	37	c.193	CCDS31221.1	10	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610507	0.66558	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.57595	0.39;0.39	5.54	1.29	0.21616	.	0.074874	0.53938	N	0.000047	T	0.56702	0.2003	L	0.59436	1.845	0.33630	D	0.60586	D;D	0.56521	0.959;0.976	P;P	0.56398	0.631;0.797	T	0.65717	-0.6100	10	0.87932	D	0	-3.4213	6.6169	0.22782	0.189:0.0:0.6724:0.1386	.	65;65	Q4VC12;F6VAV3	ZMY17_HUMAN;.	M	65	ENSP00000299432:L65M;ENSP00000362003:L65M	ENSP00000299432:L65M	L	-	1	2	ZMYND17	74857856	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.192000	0.42649	0.315000	0.23110	0.591000	0.81541	CTG	MSS51	-	NULL	ENSG00000166343		0.448	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MSS51	HGNC	protein_coding	OTTHUMT00000048652.3		0	62	0	G	NM_178451		75187850	-1			no_errors	ENST00000299432	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	75187850	G	T	75187850	3	4	90	1	0	0	0	0	1	0	0	0	17757	962	34	3	1213	3	ZMYND17	10	75187850	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	7147586	75187850	60346897	175	25910											
POLR3A	11128	genome.wustl.edu	37	chr10	79753093	79753093	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtcagatcatactgggaGcaaagatcttcaagagattt	14	11	9	7	0	4	3	3	0	1	3	4	5	4	4	0	1	2	1	0	1	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:79753093G>T	ENST00000372371.3	-	20	2786	c.2649C>A	c.(2647-2649)tgC>tgA	p.C883*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	883					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATACTGGGAGCAAAGATCTT	0.443																																																	0													87	82	83					10																	79753093		2203	4300	6503	SO:0001587	stop_gained	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"RNA polymerase subunits"	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2649C>A	10.37:g.79753093G>T	ENSP00000361446:p.Cys883*		Q8IW34|Q8TCW5	Nonsense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.C883*	ENST00000372371.3	37	c.2649	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	G	41	8.656550	0.98903	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	.	.	.	5.87	1.98	0.26296	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.3401	10.4973	0.44785	0.3403:0.0:0.6597:0.0	.	.	.	.	X	883	.	.	C	-	3	2	POLR3A	79423099	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.118000	0.41949	0.178000	0.19917	0.655000	0.94253	TGC	POLR3A	-	pfam_RNA_pol_Rpb1_5	ENSG00000148606		0.443	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0	45	0	G	NM_007055		79753093	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	T	T	79753093	G	T	79753093	4	4	90	1	0	0	0	0	0	1	0	0	12267	963	34	3	1571	3	POLR3A	10	79753093	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	4565243	79753093	55781654	176	25911											
MMRN2	79812	genome.wustl.edu	37	chr10	88696628	88696628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatggcaaagaccgttgCtgtgcttccactcccctgcc	7	9	9	16	1	0	1	0	0	0	1	2	1	2	1	6	1	4	4	6	1	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:88696628C>G	ENST00000372027.5	-	7	3043	c.2722G>C	c.(2722-2724)Gca>Cca	p.A908P		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	908	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AAGACCGTTGCTGTGCTTCCA	0.567																																																	0													174	176	175					10																	88696628		2203	4300	6503	SO:0001583	missense	0			AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"EMI domain containing"	19888	protein-coding gene	gene with protein product		608925	"elastin microfibril interfacer 3"	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2722G>C	10.37:g.88696628C>G	ENSP00000361097:p.Ala908Pro		Q504V7|Q6P2N2	Missense_Mutation	SNP	pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain	p.A908P	ENST00000372027.5	37	c.2722	CCDS7379.1	10	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671410	0.29693	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.78481	-1.18	4.34	4.34	0.51931	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.282977	0.24698	N	0.036328	D	0.85687	0.5754	M	0.78916	2.43	0.09310	N	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.986	T	0.76561	-0.2914	10	0.59425	D	0.04	-10.4983	8.6386	0.33964	0.0:0.8418:0.0:0.1582	.	686;908	E7EN39;Q9H8L6	.;MMRN2_HUMAN	P	908;686	ENSP00000361097:A908P	ENSP00000361097:A908P	A	-	1	0	MMRN2	88686608	0.001000	0.12720	0.016000	0.15963	0.094000	0.18550	0.439000	0.21575	2.258000	0.74832	0.558000	0.71614	GCA	MMRN2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q	ENSG00000173269		0.567	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN2	HGNC	protein_coding	OTTHUMT00000049179.2		0	77	0	C	NM_024756		88696628	-1			no_errors	ENST00000372027	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.006	G	G	88696628	C	G	88696628	3	3	90	1	0	0	0	0	1	0	0	0	9709	797	28	5	131	5	MMRN2	10	88696628	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	8943535	88696628	46838119	177	25912											
C10orf28	27291	genome.wustl.edu	37	chr10	99969226	99969226	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttatggtgagagtatttCatctcattttacagagtcaa	12	17	7	5	0	3	2	3	1	1	2	4	3	3	2	0	1	1	1	0	1	5	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:99969226C>A	ENST00000298999.3	+	5	1658	c.1355C>A	c.(1354-1356)tCa>tAa	p.S452*	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Nonsense_Mutation_p.S452*|R3HCC1L_ENST00000314594.5_5'UTR	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	452							nucleotide binding (GO:0000166)										GAGAGTATTTCATCTCATTTT	0.393																																																	0													75	72	73					10																	99969226		2203	4300	6503	SO:0001587	stop_gained	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1355C>A	10.37:g.99969226C>A	ENSP00000298999:p.Ser452*		O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Nonsense_Mutation	SNP	NULL	p.S452*	ENST00000298999.3	37	c.1355	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847813	0.91277	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	.	.	.	5.17	3.29	0.37713	.	0.861732	0.10249	N	0.697410	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5609	8.2376	0.31636	0.0:0.8097:0.0:0.1903	.	.	.	.	X	452	.	.	S	+	2	0	C10orf28	99959216	0.996000	0.38824	0.985000	0.45067	0.187000	0.23431	1.989000	0.40707	1.177000	0.42855	0.655000	0.94253	TCA	R3HCC1L	-	NULL	ENSG00000166024		0.393	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	-	0	20	0	C	NM_014472		99969226	1	tier1	-	no_errors	ENST00000370584	ensembl	human	known	74_37	nonsense	19.05	17	4	SNP	0.948	A	A	99969226	C	A	99969226	4	1	90	1	0	0	0	0	0	1	0	0	1606	838	29	3	1357	3	C10orf28	10	99969226	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	11272598	99969226	35565521	178	25913											
SCD	6319	genome.wustl.edu	37	chr10	102107836	102107838	+	In_Frame_Del	DEL	ACC	ACC	-																															tccagatctctagctcctatAccaccaccaccaccattaca																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:102107836_102107838delACC	ENST00000370355.2	+	2	424_426	c.43_45delACC	c.(43-45)accdel	p.T19del	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	19					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TAGCTCCTATACCACCACCACCA	0.581																																					Colon(67;260 1459 9574 11663)												0																																										SO:0001651	inframe_deletion	0			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"Fatty acid desaturases"	10571	protein-coding gene	gene with protein product	"acyl-CoA desaturase", "fatty acid desaturase", "delta-9-desaturase"	604031	"stearoyl-CoA desaturase opposite strand"	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.43_45delACC	10.37:g.102107845_102107847delACC	ENSP00000359380:p.Thr19del		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	In_Frame_Del	DEL	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.T18in_frame_del	ENST00000370355.2	37	c.43_45	CCDS7493.1	10																																																																																			SCD	-	NULL	ENSG00000099194		0.581	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD	HGNC	protein_coding	OTTHUMT00000049857.2		0	33	0	ACC	NM_005063		102107838	1	tier1		no_errors	ENST00000370355	ensembl	human	known	74_37	in_frame_del	5.00	38	2	DEL	0.998:0.990:0.094	-	-	102107838	ACC	-	102107836	7	5	90	1	0	1	0	1	0	0	0	0	13931	391	14	0	49	0	SCD	10	102107836	In_Frame_Del	DEL	ACC	TCGA-L5-A8NR-01A-11D-A37C-09	2138610	102107836	33426911	179	25914											
FGF8	2253	genome.wustl.edu	37	chr10	103530199	103530199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtgtggtggccccgggGcagccgcttcatgaagtgga	5	8	19	9	2	1	1	1	1	0	0	1	2	1	2	3	7	1	2	3	7	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:103530199G>A	ENST00000344255.3	-	6	588	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	FGF8_ENST00000346714.3_Missense_Mutation_p.P168S|FGF8_ENST00000320185.2_Missense_Mutation_p.P208S|FGF8_ENST00000347978.2_Missense_Mutation_p.P179S|FGF8_ENST00000485728.1_5'UTR			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	197					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TGGCCCCGGGGCAGCCGCTTC	0.692																																																	0													26	32	29					10																	103530199		2203	4298	6501	SO:0001583	missense	0			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"Endogenous ligands"	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.589C>T	10.37:g.103530199G>A	ENSP00000340039:p.Pro197Ser		A1A514|Q14915|Q15766	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.P208S	ENST00000344255.3	37	c.622	CCDS7517.1	10	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559252	0.65538	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	D;T;D;T	0.82167	-1.58;-1.43;-1.55;-1.38	3.79	3.79	0.43588	.	0.063314	0.64402	D	0.000004	D	0.84857	0.5565	L	0.46157	1.445	0.80722	D	1	D;P;P;D	0.60575	0.988;0.945;0.906;0.965	P;B;P;P	0.54706	0.759;0.396;0.572;0.632	D	0.86723	0.1943	10	0.59425	D	0.04	.	15.6748	0.77307	0.0:0.0:1.0:0.0	.	168;179;208;197	P55075-2;P55075-3;P55075-4;P55075	.;.;.;FGF8_HUMAN	S	197;208;168;179	ENSP00000340039:P197S;ENSP00000321797:P208S;ENSP00000344306:P168S;ENSP00000321945:P179S	ENSP00000321797:P208S	P	-	1	0	FGF8	103520189	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.359000	0.97115	1.679000	0.50963	0.455000	0.32223	CCC	FGF8	-	superfamily_Cytokine_IL1-like	ENSG00000107831		0.692	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	-	0	58	0	G	NM_006119, NM_033165		103530199	-1	tier1	-	no_errors	ENST00000320185	ensembl	human	known	74_37	missense	30.77	27	12	SNP	1.000	A	A	103530199	G	A	103530199	3	1	90	1	0	0	0	0	1	0	0	0	5880	1203	42	3	116	3	FGF8	10	103530199	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1422363	103530199	32004548	180	25915											
PPRC1	23082	genome.wustl.edu	37	chr10	103899593	103899594	+	Frame_Shift_Del	DEL	AG	AG	-																															ggtggtgcccaaggagcctcAgaacccacctgccaatgcag																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:103899593_103899594delAG	ENST00000278070.2	+	5	1367_1368	c.1328_1329delAG	c.(1327-1329)cagfs	p.Q443fs	PPRC1_ENST00000413464.2_Frame_Shift_Del_p.Q443fs|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	443	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AAGGAGCCTCAGAACCCACCTG	0.579																																																	0																																										SO:0001589	frameshift_variant	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.1328_1329delAG	10.37:g.103899593_103899594delAG	ENSP00000278070:p.Gln443fs		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N444fs	ENST00000278070.2	37	c.1328_1329	CCDS7529.1	10																																																																																			PPRC1	-	NULL	ENSG00000148840		0.579	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1		0	36	0	AG	NM_015062		103899594	1	tier1		no_errors	ENST00000278070	ensembl	human	known	74_37	frame_shift_del	33.33	16	8	DEL	0.000:0.001	-	-	103899594	AG	-	103899593	7	5	90	1	0	1	0	1	0	0	0	0	12452	188	7	0	1346	0	PPRC1	10	103899593	Frame_Shift_Del	DEL	AG	TCGA-L5-A8NR-01A-11D-A37C-09	369394	103899593	31635154	181	25916											
PPRC1	23082	genome.wustl.edu	37	chr10	103906472	103906472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaccagttatggaagccCctggctgctgtctcactgct	6	10	9	16	0	1	0	1	0	1	0	2	1	1	1	5	2	3	4	5	2	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:103906472C>T	ENST00000278070.2	+	9	3762	c.3723C>T	c.(3721-3723)ccC>ccT	p.P1241P	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Silent_p.P208P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TATGGAAGCCCCTGGCTGCTG	0.587																																																	0													73	73	73					10																	103906472		2203	4300	6503	SO:0001819	synonymous_variant	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"RNA binding motif (RRM) containing"	30025	protein-coding gene	gene with protein product			"peroxisome proliferative activated receptor, gamma, coactivator-related 1"			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3723C>T	10.37:g.103906472C>T			Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P1241	ENST00000278070.2	37	c.3723	CCDS7529.1	10																																																																																			PPRC1	-	NULL	ENSG00000148840		0.587	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	-	0	50	0	C	NM_015062		103906472	1	tier1	-	no_errors	ENST00000278070	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	T	T	103906472	C	T	103906472	2	4	90	1	0	0	0	0	0	0	0	1	12452	610	22	3		3	PPRC1	10	103906472	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	6879	103906472	31628275	182	25917											
COL17A1	1308	genome.wustl.edu	37	chr10	105801273	105801273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgggccgggtgggcctgGgggaccttgtaaattaagaa	8	8	18	7	2	0	1	0	0	0	1	0	2	0	2	3	5	0	1	3	5	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:105801273G>A	ENST00000353479.5	-	37	2865	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S	COL17A1_ENST00000369733.3_Missense_Mutation_p.P859S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	859	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGTGGGCCTGGGGGACCTTGT	0.522																																																	0													23	27	25					10																	105801273		2202	4299	6501	SO:0001583	missense	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2575C>T	10.37:g.105801273G>A	ENSP00000340937:p.Pro859Ser		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.P859S	ENST00000353479.5	37	c.2575	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109707	0.37242	.	.	ENSG00000065618	ENST00000353479;ENST00000369733	D;D	0.92858	-3.12;-3.12	5.19	4.28	0.50868	.	0.299238	0.23736	N	0.045066	D	0.88385	0.6422	L	0.57536	1.79	0.80722	D	1	B	0.14805	0.011	B	0.10450	0.005	T	0.82577	-0.0388	10	0.18710	T	0.47	-4.187	10.1328	0.42689	0.093:0.0:0.907:0.0	.	859	Q9UMD9	COHA1_HUMAN	S	859	ENSP00000340937:P859S;ENSP00000358748:P859S	ENSP00000340937:P859S	P	-	1	0	COL17A1	105791263	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	3.379000	0.52440	1.375000	0.46248	0.491000	0.48974	CCA	COL17A1	-	NULL	ENSG00000065618		0.522	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	-	0	94	0	G	NM_130778, NM_000494		105801273	-1	tier1	-	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	23.60	68	21	SNP	1.000	A	A	105801273	G	A	105801273	3	1	90	1	0	0	0	0	1	0	0	0	3681	1232	43	3	1998	3	COL17A1	10	105801273	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1894801	105801273	29733474	183	25918											
ACSL5	51703	genome.wustl.edu	37	chr10	114158683	114158683	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacggaagggggtttccCagaagaacaatgacctaaca	15	5	12	9	1	0	3	0	1	0	2	1	5	1	4	2	3	3	2	2	3	5	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:114158683C>T	ENST00000393081.1	+	3	488	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ACSL5_ENST00000356116.1_Nonsense_Mutation_p.Q117*|ACSL5_ENST00000433418.1_Nonsense_Mutation_p.Q61*|ACSL5_ENST00000479936.1_3'UTR|ACSL5_ENST00000354273.4_Nonsense_Mutation_p.Q61*|ACSL5_ENST00000354655.4_Nonsense_Mutation_p.Q61*	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	61					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GGGGGTTTCCCAGAAGAACAA	0.458																																																	0													171	144	153					10																	114158683		2203	4300	6503	SO:0001587	stop_gained	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"Acyl-CoA synthetase family"	16526	protein-coding gene	gene with protein product	"FACL5 for fatty acid coenzyme A ligase 5", "long-chain acyl-CoA synthetase 5", "long-chain fatty acid coenzyme A ligase 5", "fatty-acid-Coenzyme A ligase, long-chain 5"	605677	"fatty-acid-Coenzyme A ligase, long-chain 5"	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.181C>T	10.37:g.114158683C>T	ENSP00000376796:p.Gln61*		A6GV77|D3DRB3|Q6UX44|Q9UIU4	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q117*	ENST00000393081.1	37	c.349	CCDS7573.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.617298	0.96649	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273	.	.	.	5.07	3.16	0.36331	.	0.194838	0.43260	D	0.000595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-4.2237	14.4999	0.67714	0.0:0.7197:0.2802:0.0	.	.	.	.	X	61;61;117;61;61	.	ENSP00000346223:Q61X	Q	+	1	0	ACSL5	114148673	0.277000	0.24220	0.451000	0.26982	0.277000	0.26821	0.708000	0.25719	0.605000	0.29947	0.555000	0.69702	CAG	ACSL5	-	NULL	ENSG00000197142		0.458	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	-	0	60	0	C	NM_016234		114158683	1	tier1	-	no_errors	ENST00000356116	ensembl	human	known	74_37	nonsense	34.38	41	22	SNP	0.768	T	T	114158683	C	T	114158683	4	4	90	1	0	0	0	0	0	1	0	0	180	595	21	3	359	3	ACSL5	10	114158683	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	8357410	114158683	21376064	184	25919											
HMX3	340784	genome.wustl.edu	37	chr10	124896929	124896929	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacatgaagcgctatctGagcagctcggagcgagccgg	9	7	14	11	5	1	2	0	2	1	0	3	5	1	3	1	2	5	3	1	2	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:124896929G>T	ENST00000357878.5	+	2	845	c.756G>T	c.(754-756)ctG>ctT	p.L252L		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	252					brain development (GO:0007420)|cell differentiation (GO:0030154)|embryo implantation (GO:0007566)|inner ear morphogenesis (GO:0042472)|maternal process involved in female pregnancy (GO:0060135)|neuromuscular process controlling balance (GO:0050885)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AGCGCTATCTGAGCAGCTCGG	0.632																																																	0													24	29	28					10																	124896929		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS41575.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188620	ENSG00000188620		"Homeoboxes / ANTP class : NKL subclass"	5019	protein-coding gene	gene with protein product		613380	"homeo box (H6 family) 3"				Standard	NM_001105574		Approved	NKX5-1	uc010quc.2	A6NHT5	OTTHUMG00000019199	ENST00000357878.5:c.756G>T	10.37:g.124896929G>T			A8MU06	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L252	ENST00000357878.5	37	c.756	CCDS41575.1	10																																																																																			HMX3	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000188620		0.632	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HMX3	HGNC	protein_coding	OTTHUMT00000050842.4		0	83	0	G	XM_291716		124896929	1			no_errors	ENST00000357878	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T	T	124896929	G	T	124896929	2	4	90	1	0	0	0	0	0	0	0	1	7275	1277	45	3		3	HMX3	10	124896929	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	10738246	124896929	10637818	185	25920											
MKI67	4288	genome.wustl.edu	37	chr10	129907608	129907608	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccattttctctaatacactgCcgtcttaagggagggcttgc	8	13	9	11	1	2	0	0	0	2	0	3	1	2	1	2	2	3	1	2	2	3	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr10:129907608C>T	ENST00000368654.3	-	13	2871	c.2496G>A	c.(2494-2496)cgG>cgA	p.R832R	MKI67_ENST00000368653.3_Silent_p.R472R|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	832			R -> W (in dbSNP:rs34916904).		cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TAATACACTGCCGTCTTAAGG	0.418																																																	0													160	159	159					10																	129907608		2203	4300	6503	SO:0001819	synonymous_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2496G>A	10.37:g.129907608C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R832	ENST00000368654.3	37	c.2496	CCDS7659.1	10																																																																																			MKI67	-	NULL	ENSG00000148773		0.418	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0	26	0	C	NM_002417		129907608	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.000	T	T	129907608	C	T	129907608	2	4	90	1	0	0	0	0	0	0	0	1	9636	726	26	3		3	MKI67	10	129907608	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	5010679	129907608	5627139	186	25921											
B4GALNT4	338707	genome.wustl.edu	37	chr11	372929	372929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgaggaggaacctgcaCttcccgctgttccctcatgt	7	10	9	15	1	1	1	1	1	0	0	3	3	3	3	4	2	2	3	4	2	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:372929C>T	ENST00000329962.6	+	4	426	c.426C>T	c.(424-426)caC>caT	p.H142H		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	142					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAACCTGCACTTCCCGCTGT	0.677																																																	0													33	36	35					11																	372929		2193	4292	6485	SO:0001819	synonymous_variant	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"Beta 4-glycosyltransferases"	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.426C>T	11.37:g.372929C>T			Q96LV2	Silent	SNP	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.H142	ENST00000329962.6	37	c.426	CCDS7694.1	11																																																																																			B4GALNT4	-	smart_PA14	ENSG00000182272		0.677	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2	-	0	40	0	C	NM_178537		372929	1	tier1	-	no_errors	ENST00000329962	ensembl	human	known	74_37	silent	30.00	21	9	SNP	1.000	T	T	372929	C	T	372929	2	4	90	1	0	0	0	0	0	0	0	1	1270	564	20	3		3	B4GALNT4	11	372929	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		372929	134633587	187	25922											
TRIM21	6737	genome.wustl.edu	37	chr11	4409631	4409631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcttggcctctttctcccCcaggattctcagctgctccc	4	12	7	18	0	3	0	1	0	3	0	6	1	4	1	4	2	3	3	4	2	0	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:4409631C>T	ENST00000254436.7	-	4	746	c.634G>A	c.(634-636)Ggg>Agg	p.G212R	TRIM21_ENST00000543625.1_Missense_Mutation_p.G212R	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	212					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCTTTCTCCCCCAGGATTCTC	0.557																																																	0													134	138	137					11																	4409631		2004	4181	6185	SO:0001583	missense	0			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	11312	protein-coding gene	gene with protein product		109092	"Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)", "tripartite motif-containing 21"	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.634G>A	11.37:g.4409631C>T	ENSP00000254436:p.Gly212Arg		Q5XPV5|Q96RF8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.G212R	ENST00000254436.7	37	c.634	CCDS44525.1	11	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002732	0.35320	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.04194	3.68;3.68	4.34	4.34	0.51931	.	0.000000	0.52532	D	0.000063	T	0.08846	0.0219	N	0.17764	0.52	0.09310	N	0.999996	D	0.89917	1.0	D	0.74023	0.982	T	0.39901	-0.9591	10	0.16896	T	0.51	.	12.665	0.56837	0.0:1.0:0.0:0.0	.	212	P19474	RO52_HUMAN	R	212	ENSP00000254436:G212R;ENSP00000444045:G212R	ENSP00000254436:G212R	G	-	1	0	TRIM21	4366207	0.000000	0.05858	0.253000	0.24343	0.043000	0.13939	0.615000	0.24329	2.699000	0.92147	0.655000	0.94253	GGG	TRIM21	-	NULL	ENSG00000132109		0.557	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	-	0	38	0	C	NM_003141		4409631	-1	tier1	-	no_errors	ENST00000254436	ensembl	human	known	74_37	missense	20.69	23	6	SNP	0.209	T	T	4409631	C	T	4409631	3	4	90	1	0	0	0	0	1	0	0	0	16543	623	22	3	809	3	TRIM21	11	4409631	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	4036702	4409631	130596885	188	25923											
TRIM6	117854	genome.wustl.edu	37	chr11	5625768	5625768	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgttttcttcaaggagaAgtttcaggagtctctaaaga	12	15	9	5	0	4	2	2	0	2	2	5	4	4	3	0	2	0	2	0	2	4	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:5625768A>C	ENST00000278302.5	+	3	568	c.428A>C	c.(427-429)aAg>aCg	p.K143T	TRIM6_ENST00000445329.1_5'UTR|TRIM6_ENST00000506134.1_5'UTR|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_5'UTR|TRIM6_ENST00000380097.3_Missense_Mutation_p.K171T|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K171T|TRIM6_ENST00000380107.1_Missense_Mutation_p.K117T	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	143					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCAAGGAGAAGTTTCAGGAG	0.443																																																	0													118	123	121					11																	5625768		2201	4297	6498	SO:0001583	missense	0			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16277	protein-coding gene	gene with protein product		607564	"tripartite motif-containing 6"			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.428A>C	11.37:g.5625768A>C	ENSP00000278302:p.Lys143Thr		A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K171T	ENST00000278302.5	37	c.512	CCDS31390.1	11	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640280	0.47153	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000380107;ENST00000380097;ENST00000396867;ENST00000337072;ENST00000354852	T;T;T;T	0.58210	0.35;0.35;0.35;1.49	4.92	-0.736	0.11133	.	.	.	.	.	T	0.60090	0.2242	M	0.87682	2.9	0.21105	N	0.999782	P;B;P;P	0.52692	0.955;0.421;0.763;0.501	P;B;B;B	0.52267	0.694;0.107;0.382;0.118	T	0.54221	-0.8326	9	0.87932	D	0	.	1.2757	0.02030	0.2642:0.1213:0.1135:0.5009	.	117;171;171;143	E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;TRIM6_HUMAN	T	143;117;171;50;171;171	ENSP00000278302:K143T;ENSP00000369450:K117T;ENSP00000369440:K171T;ENSP00000346916:K171T	ENSP00000278302:K143T	K	+	2	0	TRIM34;TRIM6;TRIM6-TRIM34	5582344	1.000000	0.71417	0.918000	0.36340	0.346000	0.29079	0.730000	0.26043	0.055000	0.16094	-0.290000	0.09829	AAG	TRIM6-TRIM34	-	NULL	ENSG00000258588		0.443	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	-	0	76	0	A	NM_001003818		5625768	1	tier1	-	no_errors	ENST00000354852	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.883	C	C	5625768	A	C	5625768	3	2	90	1	0	0	0	0	1	0	0	0	16581	72	3	4	522	4	TRIM6	11	5625768	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	1216137	5625768	129380748	189	25924											
LUZP2	338645	genome.wustl.edu	37	chr11	25071622	25071622	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaacaatgagagctctcaAgttgagtcaacaaaggaagg	17	6	12	6	0	2	2	2	2	1	1	3	5	2	4	0	3	3	2	0	3	6	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:25071622A>G	ENST00000336930.6	+	10	870	c.804A>G	c.(802-804)caA>caG	p.Q268Q	LUZP2_ENST00000533227.1_Silent_p.Q182Q			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	268						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AGAGCTCTCAAGTTGAGTCAA	0.358																																																	0													93	94	94					11																	25071622		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.804A>G	11.37:g.25071622A>G			A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Silent	SNP	NULL	p.Q268	ENST00000336930.6	37	c.804	CCDS31446.1	11																																																																																			LUZP2	-	NULL	ENSG00000187398		0.358	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0	36	0	A	NM_001009909		25071622	1	tier1	-	no_errors	ENST00000336930	ensembl	human	known	74_37	silent	56.25	14	18	SNP	0.018	G	G	25071622	A	G	25071622	2	3	90	1	0	0	0	0	0	0	0	1	9122	69	3	4		4	LUZP2	11	25071622	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	19445854	25071622	109934894	190	25925											
FBXO3	26273	genome.wustl.edu	37	chr11	33792357	33792357	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgatagctggctaagtcTtcgactgacataacaacagc	13	10	8	10	1	1	2	0	2	1	0	2	3	1	2	0	1	4	2	0	1	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:33792357T>A	ENST00000265651.3	-	2	142	c.124A>T	c.(124-126)Aga>Tga	p.R42*	FBXO3_ENST00000526785.1_De_novo_Start_OutOfFrame|FBXO3_ENST00000530401.1_Nonsense_Mutation_p.R37*|FBXO3_ENST00000534136.1_Nonsense_Mutation_p.R42*|FBXO3_ENST00000533103.1_5'UTR|FBXO3_ENST00000448981.2_Nonsense_Mutation_p.R42*	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	42	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TGGCTAAGTCTTCGACTGACA	0.338																																																	0													221	206	211					11																	33792357		2202	4298	6500	SO:0001587	stop_gained	0			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.124A>T	11.37:g.33792357T>A	ENSP00000265651:p.Arg42*		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Nonsense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom	p.R42*	ENST00000265651.3	37	c.124	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	T	36	5.757504	0.96898	.	.	ENSG00000110429	ENST00000265651;ENST00000321458;ENST00000530401;ENST00000534136;ENST00000448981	.	.	.	5.5	3.01	0.34805	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9694	6.9774	0.24683	0.1473:0.0:0.1539:0.6989	.	.	.	.	X	42;39;37;42;42	.	ENSP00000265651:R42X	R	-	1	2	FBXO3	33748933	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.308000	0.43690	0.885000	0.36088	0.397000	0.26171	AGA	FBXO3	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000110429		0.338	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	-	0	67	0	T	NM_012175		33792357	-1	tier1	-	no_errors	ENST00000265651	ensembl	human	known	74_37	nonsense	6.45	58	4	SNP	1.000	A	A	33792357	T	A	33792357	4	1	90	1	0	0	0	0	0	1	0	0	5761	1617	56	5	1340	5	FBXO3	11	33792357	Nonsense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	8720735	33792357	101214159	191	25926											
OR5D13	390142	genome.wustl.edu	37	chr11	55541539	55541539	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattgccatattcaatgAggtgagcagcctaattatca	13	14	7	7	0	2	2	2	2	0	0	2	2	2	2	2	1	3	1	2	1	6	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:55541539A>C	ENST00000361760.1	+	1	626	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATATTCAATGAGGTGAGCAGC	0.393																																																	0													139	133	135					11																	55541539		2200	4296	6496	SO:0001583	missense	0			BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"GPCR / Class A : Olfactory receptors"	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.626A>C	11.37:g.55541539A>C	ENSP00000354800:p.Glu209Ala		Q6IF68|Q6IFC9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E209A	ENST00000361760.1	37	c.626	CCDS31507.1	11	.	.	.	.	.	.	.	.	.	.	A	6.084	0.383876	0.11524	.	.	ENSG00000198877	ENST00000361760	T	0.36699	1.24	3.82	-0.312	0.12758	GPCR, rhodopsin-like superfamily (1);	0.504966	0.14652	U	0.306524	T	0.32102	0.0818	N	0.25647	0.755	0.09310	N	1	P	0.45902	0.868	P	0.55087	0.768	T	0.10894	-1.0610	10	0.44086	T	0.13	-10.7247	4.1938	0.10433	0.3425:0.17:0.0:0.4876	.	209	Q8NGL4	OR5DD_HUMAN	A	209	ENSP00000354800:E209A	ENSP00000354800:E209A	E	+	2	0	OR5D13	55298115	0.000000	0.05858	0.055000	0.19348	0.002000	0.02628	-0.079000	0.11357	0.461000	0.27071	-0.766000	0.03442	GAG	OR5D13	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198877		0.393	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D13	HGNC	protein_coding	OTTHUMT00000391511.1	-	0	67	0	A	NM_001001967		55541539	1	tier1	-	no_errors	ENST00000361760	ensembl	human	known	74_37	missense	58.00	21	29	SNP	0.007	C	C	55541539	A	C	55541539	3	2	90	1	0	0	0	0	1	0	0	0	11193	304	11	4	628	4	OR5D13	11	55541539	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	21749182	55541539	79464977	192	25927											
OR5M8	219484	genome.wustl.edu	37	chr11	56258648	56258648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaagcacagatccacgaAggataagtggctcaggaaaa	18	4	12	7	1	1	2	1	0	0	2	2	6	2	4	1	3	1	2	1	3	5	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:56258648A>G	ENST00000327216.2	-	1	223	c.199T>C	c.(199-201)Ttc>Ctc	p.F67L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGATCCACGAAGGATAAGTGG	0.493																																																	0													77	76	76					11																	56258648		2201	4296	6497	SO:0001583	missense	0			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"GPCR / Class A : Olfactory receptors"	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.199T>C	11.37:g.56258648A>G	ENSP00000323354:p.Phe67Leu		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F67L	ENST00000327216.2	37	c.199	CCDS31533.1	11	.	.	.	.	.	.	.	.	.	.	A	7.612	0.675019	0.14841	.	.	ENSG00000181371	ENST00000327216	T	0.00966	5.49	4.13	0.343	0.16001	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33515	U	0.004833	T	0.00967	0.0032	L	0.49571	1.57	0.27349	N	0.95628	B	0.16802	0.019	B	0.21151	0.033	T	0.44636	-0.9315	10	0.33940	T	0.23	-15.3841	3.4074	0.07345	0.6249:0.0:0.2031:0.172	.	67	Q8NGP6	OR5M8_HUMAN	L	67	ENSP00000323354:F67L	ENSP00000323354:F67L	F	-	1	0	OR5M8	56015224	0.000000	0.05858	0.110000	0.21437	0.056000	0.15407	-0.012000	0.12699	0.116000	0.18110	0.440000	0.28878	TTC	OR5M8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181371		0.493	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	HGNC	protein_coding	OTTHUMT00000391641.1	-	0	61	0	A	NM_001005282		56258648	-1	tier1	-	no_errors	ENST00000327216	ensembl	human	known	74_37	missense	25.97	57	20	SNP	0.690	G	G	56258648	A	G	56258648	3	3	90	1	0	0	0	0	1	0	0	0	11215	72	3	4	740	4	OR5M8	11	56258648	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	717109	56258648	78747868	193	25928											
FAM111A	63901	genome.wustl.edu	37	chr11	58920829	58920829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctggctttgcttataCttaccaaaatgagactcgta	10	14	8	9	1	0	1	0	1	0	1	1	2	0	1	1	1	5	5	1	1	6	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:58920829C>T	ENST00000528737.1	+	5	4506	c.1688C>T	c.(1687-1689)aCt>aTt	p.T563I	FAM111A_ENST00000361723.3_Missense_Mutation_p.T563I|FAM111A_ENST00000531147.1_Missense_Mutation_p.T563I|FAM111A_ENST00000533703.1_Missense_Mutation_p.T563I|FAM111A_ENST00000420244.1_Missense_Mutation_p.T563I			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	563	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTGCTTATACTTACCAAAAT	0.413																																																	0													138	136	136					11																	58920829		2201	4295	6496	SO:0001583	missense	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1688C>T	11.37:g.58920829C>T	ENSP00000434435:p.Thr563Ile		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.T563I	ENST00000528737.1	37	c.1688	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385358	0.25031	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.87	-7.06	0.01568	Peptidase cysteine/serine, trypsin-like (1);	2.542540	0.00950	N	0.002940	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	B	0.20671	0.047	B	0.19148	0.024	T	0.07366	-1.0776	10	0.38643	T	0.18	-17.1367	0.9377	0.01348	0.1747:0.3316:0.1978:0.2959	.	563	Q96PZ2	F111A_HUMAN	I	563	ENSP00000434435:T563I;ENSP00000406683:T563I;ENSP00000355264:T563I;ENSP00000433154:T563I;ENSP00000431631:T563I	ENSP00000355264:T563I	T	+	2	0	FAM111A	58677405	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.248000	0.02890	-1.152000	0.02832	-2.066000	0.00396	ACT	FAM111A	-	superfamily_Trypsin-like_Pept_dom	ENSG00000166801		0.413	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	-	0	74	0	C	NM_022074		58920829	1	tier1	-	no_errors	ENST00000361723	ensembl	human	known	74_37	missense	10.91	49	6	SNP	0.000	T	T	58920829	C	T	58920829	3	4	90	1	0	0	0	0	1	0	0	0	5418	565	20	3	1694	3	FAM111A	11	58920829	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2662181	58920829	76085687	194	25929											
PRPF19	27339	genome.wustl.edu	37	chr11	60669881	60669881	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggacttaccttctgAataatctctggggtcattcc	10	12	9	10	0	3	2	1	1	2	1	5	3	4	3	2	3	2	1	2	3	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:60669881A>T	ENST00000227524.4	-	6	724	c.519T>A	c.(517-519)atT>atA	p.I173I		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TTACCTTCTGAATAATCTCTG	0.517																																																	0													95	84	88					11																	60669881		2203	4299	6502	SO:0001819	synonymous_variant	0			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"WD repeat domain containing", "U-box domain containing"	17896	protein-coding gene	gene with protein product	"nuclear matrix protein NMP200 related to splicing factor PRP19", "psoralen 4"	608330	"PRP19/PSO4 homolog (S. cerevisiae)", "PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.519T>A	11.37:g.60669881A>T				Silent	SNP	pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I173	ENST00000227524.4	37	c.519	CCDS7995.1	11																																																																																			PRPF19	-	NULL	ENSG00000110107		0.517	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF19	HGNC	protein_coding	OTTHUMT00000396334.1	-	0	61	0	A	NM_014502		60669881	-1	tier1	-	no_errors	ENST00000227524	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.997	T	T	60669881	A	T	60669881	2	4	90	1	0	0	0	0	0	0	0	1	12606	242	9	5		5	PRPF19	11	60669881	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	1749052	60669881	74336635	195	25930											
C11orf9	745	genome.wustl.edu	37	chr11	61541497	61541497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaacttttcggtgggcgacGacgcctttgtgtgccagaag	7	11	13	10	4	1	1	1	0	0	1	2	3	1	1	2	2	2	0	2	2	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:61541497G>A	ENST00000278836.5	+	8	1270	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	MYRF_ENST00000265460.5_Missense_Mutation_p.D383N|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Missense_Mutation_p.D19N	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	392					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D383N(1)									GGTGGGCGACGACGCCTTTGT	0.642																																																	1	Substitution - Missense(1)	large_intestine(1)											80	67	72					11																	61541497		2202	4299	6501	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1174G>A	11.37:g.61541497G>A	ENSP00000278836:p.Asp392Asn		O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.D392N	ENST00000278836.5	37	c.1174	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066422	0.76187	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.42131	1.55;1.55;0.98	4.43	4.43	0.53597	NDT80 DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);	0.124581	0.56097	D	0.000023	T	0.43389	0.1245	L	0.59436	1.845	0.80722	D	1	P;B	0.42357	0.777;0.414	B;B	0.40444	0.329;0.126	T	0.45071	-0.9286	10	0.39692	T	0.17	-27.6325	17.6067	0.88040	0.0:0.0:1.0:0.0	.	383;392	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	N	392;383;19	ENSP00000278836:D392N;ENSP00000265460:D383N;ENSP00000333261:D19N	ENSP00000265460:D383N	D	+	1	0	C11orf9	61298073	1.000000	0.71417	0.971000	0.41717	0.525000	0.34531	9.204000	0.95041	2.484000	0.83849	0.462000	0.41574	GAC	MYRF	-	superfamily_p53-like_TF_DNA-bd	ENSG00000124920		0.642	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2		0	43	0	G	NM_013279		61541497	1			no_errors	ENST00000278836	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	61541497	G	A	61541497	3	1	90	1	0	0	0	0	1	0	0	0	1676	1058	37	1	1227	1	C11orf9	11	61541497	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	871616	61541497	73465019	196	25931											
PPP2R5B	5526	genome.wustl.edu	37	chr11	64697828	64697828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgagcacttcaatggtgtgGctgagctgctggagatccta	8	11	13	9	1	1	2	1	1	0	1	3	4	2	2	1	3	3	4	1	3	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:64697828G>T	ENST00000164133.2	+	7	1379	c.757G>T	c.(757-759)Gct>Tct	p.A253S		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	253					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.A253T(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CAATGGTGTGGCTGAGCTGCT	0.577																																																	1	Substitution - Missense(1)	endometrium(1)											133	117	122					11																	64697828		2201	4297	6498	SO:0001583	missense	0			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9310	protein-coding gene	gene with protein product	"PP2A, B subunit, B' beta isoform", "PP2A, B subunit, B56 beta isoform", "PP2A, B subunit, PR61 beta isoform", "PP2A, B subunit, R5 beta isoform", "serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"	601644	"protein phosphatase 2, regulatory subunit B (B56), beta isoform", "protein phosphatase 2, regulatory subunit B', beta isoform"			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.757G>T	11.37:g.64697828G>T	ENSP00000164133:p.Ala253Ser		Q13853	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.A253S	ENST00000164133.2	37	c.757	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150352	0.78001	.	.	ENSG00000068971	ENST00000164133;ENST00000359279;ENST00000527441	.	.	.	3.81	3.81	0.43845	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	L	0.61218	1.895	0.52501	D	0.999951	B	0.06786	0.001	B	0.25405	0.06	T	0.65175	-0.6232	9	0.72032	D	0.01	-9.8281	14.0102	0.64490	0.0:0.0:1.0:0.0	.	253	Q15173	2A5B_HUMAN	S	253;280;253	.	ENSP00000164133:A253S	A	+	1	0	PPP2R5B	64454404	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.126000	0.94411	2.422000	0.82143	0.655000	0.94253	GCT	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000068971		0.577	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1		0	49	0	G	NM_006244		64697828	1			no_errors	ENST00000164133	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	64697828	G	T	64697828	3	4	90	1	0	0	0	0	1	0	0	0	12435	1203	42	3	779	3	PPP2R5B	11	64697828	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	3156331	64697828	70308688	197	25932											
GAL	51083	genome.wustl.edu	37	chr11	68452434	68452434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgcctccctcctcctcGccgcggccctttctgcctct	0	12	7	22	4	2	0	0	0	2	0	7	0	5	0	7	1	2	1	7	1	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:68452434G>A	ENST00000265643.3	+	2	301	c.43G>A	c.(43-45)Gcc>Acc	p.A15T		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	15					cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CCTCCTCCTCGCCGCGGCCCT	0.746																																																	0													12	12	12					11																	68452434		2193	4282	6475	SO:0001583	missense	0			L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"Endogenous ligands"	4114	protein-coding gene	gene with protein product	"galanin-message-associated peptide", "galanin/GMAP prepropeptide"	137035	"galanin", "galanin prepropeptide"	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.43G>A	11.37:g.68452434G>A	ENSP00000265643:p.Ala15Thr		Q14413	Missense_Mutation	SNP	pfam_GMAP,pfam_Galanin,smart_Galanin_pre,prints_Galanin	p.A15T	ENST00000265643.3	37	c.43	CCDS8183.1	11	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979339	0.34942	.	.	ENSG00000069482	ENST00000265643	T	0.45668	0.89	3.03	-0.714	0.11219	.	0.662303	0.12684	N	0.447764	T	0.25531	0.0621	L	0.36672	1.1	0.09310	N	1	B	0.16603	0.018	B	0.08055	0.003	T	0.15607	-1.0431	10	0.30854	T	0.27	-15.2966	3.3847	0.07268	0.1455:0.0:0.3787:0.4758	.	15	P22466	GALA_HUMAN	T	15	ENSP00000265643:A15T	ENSP00000265643:A15T	A	+	1	0	GAL	68209010	0.000000	0.05858	0.142000	0.22268	0.620000	0.37586	0.033000	0.13754	0.053000	0.16036	-0.350000	0.07774	GCC	GAL	-	NULL	ENSG00000069482		0.746	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL	HGNC	protein_coding	OTTHUMT00000396843.2		0	56	0	G	NM_001479		68452434	1			no_errors	ENST00000265643	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.010	A	A	68452434	G	A	68452434	3	1	90	1	0	0	0	0	1	0	0	0	6221	1087	38	1	45	1	GAL	11	68452434	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	3754606	68452434	66554082	198	25933											
MYO7A	4647	genome.wustl.edu	37	chr11	76924905	76924905	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccctttctgctcccccagGatatcctcaccactcatccc	6	11	4	20	0	3	0	2	0	1	0	6	1	6	1	6	1	2	1	6	1	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:76924905G>T	ENST00000409709.3	+	48	6711	c.6439G>T	c.(6439-6441)Gat>Tat	p.D2147Y	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Splice_Site_p.D2098Y|MYO7A_ENST00000458637.2_Splice_Site_p.D2107Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2147	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCCCCCAGGATATCCTCAC	0.597																																																	0													117	123	121					11																	76924905		2100	4204	6304	SO:0001630	splice_region_variant	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"A-kinase anchor proteins", "Myosins / Myosin superfamily : Class VII"	7606	protein-coding gene	gene with protein product		276903	"myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.6439-1G>T	11.37:g.76924905G>T			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.D2147Y	ENST00000409709.3	37	c.6439	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458947	0.84317	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.87	5.87	0.94306	FERM domain (1);Pleckstrin homology-type (1);	0.137974	0.64402	D	0.000005	D	0.85796	0.5780	M	0.79475	2.455	0.80722	D	1	D;P	0.55385	0.971;0.913	P;P	0.61003	0.882;0.832	D	0.84824	0.0798	9	.	.	.	.	20.2227	0.98327	0.0:0.0:1.0:0.0	.	2107;2147	F8VUN5;Q13402	.;MYO7A_HUMAN	Y	2147;2107;2098;1320;2146;2116;2023;1289	ENSP00000386331:D2147Y;ENSP00000392185:D2107Y;ENSP00000386635:D2098Y;ENSP00000417017:D1289Y	.	D	+	1	0	MYO7A	76602553	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.476000	0.97823	2.778000	0.95560	0.650000	0.86243	GAT	MYO7A	-	pfscan_FERM_domain	ENSG00000137474		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1		0	72	0	G	NM_000260	Missense_Mutation	76924905	1			no_errors	ENST00000409709	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	76924905	G	T	76924905	5	4	90	1	0	0	0	0	0	0	1	0	10120	1188	41	3	6659	3	MYO7A	11	76924905	Splice_Site	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	8472471	76924905	58081611	199	25934											
NOX4	50507	genome.wustl.edu	37	chr11	89088130	89088130	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgaactccttttgcttacTtgggataatttctagattga	10	17	8	6	0	1	3	0	2	1	1	2	4	2	4	1	1	3	1	1	1	4	8	rs575738113		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:89088130T>C	ENST00000263317.4	-	13	1455	c.1217A>G	c.(1216-1218)aAg>aGg	p.K406R	NOX4_ENST00000375979.3_Splice_Site_p.K99R|NOX4_ENST00000424319.1_Splice_Site_p.K382R|NOX4_ENST00000531342.1_Splice_Site_p.K99R|NOX4_ENST00000542487.1_Splice_Site_p.K382R|NOX4_ENST00000535633.1_Splice_Site_p.K382R|NOX4_ENST00000527626.1_Splice_Site_p.K240R|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Splice_Site_p.K381R|NOX4_ENST00000534731.1_Splice_Site_p.K406R|NOX4_ENST00000527956.1_Splice_Site_p.K382R|NOX4_ENST00000343727.5_Splice_Site_p.K382R|NOX4_ENST00000532825.1_Splice_Site_p.K382R|NOX4_ENST00000413594.2_Splice_Site_p.K427R			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	406	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.|Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTTTGCTTACTTGGGATAATT	0.383																																																	0													47	49	49					11																	89088130		2201	4299	6500	SO:0001630	splice_region_variant	0			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1217+1A>G	11.37:g.89088130T>C			A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.K427R	ENST00000263317.4	37	c.1280	CCDS8285.1	11	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663082	0.47572	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95342	-3.01;-3.01;-3.01;-3.59;-3.01;-3.68;-3.01;-3.01;-3.01;-3.01;-3.01;-3.09;-3.46	5.31	5.31	0.75309	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.050645	0.85682	D	0.000000	D	0.94525	0.8237	L	0.33753	1.03	0.46167	D	0.998906	B;B;B;P;B;B;B	0.49696	0.382;0.048;0.178;0.927;0.148;0.287;0.339	B;B;B;D;B;B;B	0.67725	0.306;0.066;0.115;0.953;0.048;0.1;0.161	D	0.93435	0.6789	9	.	.	.	-9.5277	11.6681	0.51385	0.0:0.0:0.0:1.0	.	382;240;381;99;99;406;406	E9PMY6;E9PR43;E9PPP2;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;NOX4_HUMAN	R	382;382;382;406;406;382;382;382;240;381;427;99;99	ENSP00000412446:K382R;ENSP00000440172:K382R;ENSP00000344747:K382R;ENSP00000436892:K406R;ENSP00000263317:K406R;ENSP00000434924:K382R;ENSP00000433797:K382R;ENSP00000439373:K382R;ENSP00000436093:K240R;ENSP00000436970:K381R;ENSP00000405705:K427R;ENSP00000435039:K99R;ENSP00000365146:K99R	.	K	-	2	0	NOX4	88727778	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.228000	0.58619	2.007000	0.58848	0.460000	0.39030	AAG	NOX4	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	ENSG00000086991		0.383	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	-	0	114	0	T	NM_016931	Missense_Mutation	89088130	-1	tier1	-	no_errors	ENST00000413594	ensembl	human	known	74_37	missense	49.32	37	36	SNP	1.000	C	C	89088130	T	C	89088130	5	2	90	1	0	0	0	0	0	0	1	0	10597	1623	56	4	543	4	NOX4	11	89088130	Splice_Site	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	12163225	89088130	45918386	200	25935											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103124155	103124155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggttaactttactacaaCaagaagtggattacgagggc	14	10	11	6	1	0	2	0	1	0	1	0	4	0	3	0	3	5	1	0	3	7	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:103124155C>A	ENST00000375735.2	+	66	10328	c.10184C>A	c.(10183-10185)aCa>aAa	p.T3395K	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T3402K	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3395	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTACTACAACAAGAAGTGGA	0.363																																																	0													103	98	100					11																	103124155		1815	4086	5901	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10184C>A	11.37:g.103124155C>A	ENSP00000364887:p.Thr3395Lys		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T3402K	ENST00000375735.2	37	c.10205	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.132029	0.94473	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.29142	1.58;1.58	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.986;0.99	T	0.61893	-0.6969	10	0.51188	T	0.08	.	20.3334	0.98727	0.0:1.0:0.0:0.0	.	3395;3402	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	K	3395;3402	ENSP00000364887:T3395K;ENSP00000381167:T3402K	ENSP00000364887:T3395K	T	+	2	0	DYNC2H1	102629365	1.000000	0.71417	0.990000	0.47175	0.992000	0.81027	6.057000	0.71119	2.818000	0.97014	0.591000	0.81541	ACA	DYNC2H1	-	NULL	ENSG00000187240		0.363	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	72	0	C	XM_370652		103124155	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	30.68	61	27	SNP	1.000	A	A	103124155	C	A	103124155	3	1	90	1	0	0	0	0	1	0	0	0	4860	478	17	3	10471	3	DYNC2H1	11	103124155	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	14036025	103124155	31882361	201	25936											
NCAM1	4684	genome.wustl.edu	37	chr11	113078610	113078610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagtacatcttcagcgacGatagttcccagctgaccatc	12	9	8	12	2	2	2	1	1	1	1	4	4	3	2	2	0	3	3	2	0	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:113078610G>A	ENST00000533760.1	+	7	1047	c.448G>A	c.(448-450)Gat>Aat	p.D150N	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.D267N|NCAM1_ENST00000316851.7_Missense_Mutation_p.D258N	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	268	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTTCAGCGACGATAGTTCCCA	0.483																																																	0													74	73	74					11																	113078610		2026	4188	6214	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.448G>A	11.37:g.113078610G>A	ENSP00000473281:p.Asp150Asn		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.D258N	ENST00000533760.1	37	c.772		11	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717222	0.68844	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.66815	-0.23;-0.23	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;1.0;0.998;0.979	T	0.82500	-0.0426	9	0.48119	T	0.1	-27.8279	19.8599	0.96779	0.0:0.0:1.0:0.0	.	268;268;268;268;268	P13591-5;P13591-1;P13591;P13591-3;P13591-6	.;.;NCAM1_HUMAN;.;.	N	150;267;258	ENSP00000384055:D267N;ENSP00000318472:D258N	ENSP00000318472:D258N	D	+	1	0	NCAM1	112583820	1.000000	0.71417	0.942000	0.38095	0.195000	0.23768	9.362000	0.97126	2.710000	0.92621	0.655000	0.94253	GAT	NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149294		0.483	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	-	0	30	0	G	NM_000615		113078610	1	tier1	-	no_errors	ENST00000316851	ensembl	human	known	74_37	missense	28.57	20	8	SNP	1.000	A	A	113078610	G	A	113078610	3	1	90	1	0	0	0	0	1	0	0	0	10241	1058	37	1	829	1	NCAM1	11	113078610	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	9954455	113078610	21927906	202	25937											
DSCAML1	57453	genome.wustl.edu	37	chr11	117389188	117389188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtagacaggcacctcttacGtttattcgcgcctgatattc	8	14	8	11	3	1	2	0	1	1	1	3	2	1	2	2	1	1	3	2	1	4	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:117389188G>A	ENST00000321322.6	-	7	1684	c.1683C>T	c.(1681-1683)aaC>aaT	p.N561N	DSCAML1_ENST00000527706.1_Silent_p.N291N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	501	Ig-like C2-type 6.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCTCTTACGTTTATTCGCG	0.488																																																	0													96	100	99					11																	117389188		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1683C>T	11.37:g.117389188G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N561	ENST00000321322.6	37	c.1683	CCDS8384.1	11																																																																																			DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000177103		0.488	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	60	0	G	NM_020693		117389188	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	60.78	20	31	SNP	1.000	A	A	117389188	G	A	117389188	2	1	90	1	0	0	0	0	0	0	0	1	4783	1136	40	1		1	DSCAML1	11	117389188	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	4310578	117389188	17617328	203	25938											
TBCEL	219899	genome.wustl.edu	37	chr11	120925835	120925835	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgctgtcattctcttaAgctactacatataacagaca	13	15	4	9	0	2	1	1	0	1	1	3	1	2	1	0	0	5	2	0	0	6	8			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:120925835A>C	ENST00000529397.1	+	5	630	c.530A>C	c.(529-531)aAg>aCg	p.K177T	TBCEL_ENST00000422003.2_Missense_Mutation_p.K177T	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	177						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		CATTCTCTTAAGCTACTACAT	0.398																																																	0													141	128	132					11																	120925835		2203	4299	6502	SO:0001583	missense	0			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"leucine rich repeat containing 35", "tubulin-specific chaperone e-like"	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.530A>C	11.37:g.120925835A>C	ENSP00000437184:p.Lys177Thr		Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.K177T	ENST00000529397.1	37	c.530	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	A	16.27	3.077164	0.55753	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000524726	T;T;T	0.18174	2.23;2.23;2.23	5.82	5.82	0.92795	.	0.046567	0.85682	D	0.000000	T	0.16041	0.0386	L	0.29908	0.895	0.54753	D	0.999983	P	0.44816	0.844	B	0.41174	0.349	T	0.01608	-1.1313	10	0.41790	T	0.15	-10.0864	16.1726	0.81828	1.0:0.0:0.0:0.0	.	177	Q5QJ74	TBCEL_HUMAN	T	177	ENSP00000437184:K177T;ENSP00000403925:K177T;ENSP00000432783:K177T	ENSP00000403925:K177T	K	+	2	0	TBCEL	120431045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.062000	0.64326	2.232000	0.73038	0.482000	0.46254	AAG	TBCEL	-	NULL	ENSG00000154114		0.398	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	-	0	70	0	A	NM_152715		120925835	1	tier1	-	no_errors	ENST00000422003	ensembl	human	known	74_37	missense	53.57	39	45	SNP	1.000	C	C	120925835	A	C	120925835	3	2	90	1	0	0	0	0	1	0	0	0	15682	72	3	4	544	4	TBCEL	11	120925835	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	3536647	120925835	14080681	204	25939											
CCDC15	80071	genome.wustl.edu	37	chr11	124856678	124856678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactatgaggaatcttcatCtcttgtaactgatgagaaag	13	13	9	6	0	3	4	1	4	2	1	4	6	3	5	0	1	1	1	0	1	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:124856678C>T	ENST00000344762.5	+	7	1053	c.794C>T	c.(793-795)tCt>tTt	p.S265F	CCDC15_ENST00000529051.1_Missense_Mutation_p.S265F	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	265						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GAATCTTCATCTCTTGTAACT	0.453																																																	0													41	42	42					11																	124856678		1833	4036	5869	SO:0001583	missense	0			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.794C>T	11.37:g.124856678C>T	ENSP00000341684:p.Ser265Phe		Q9H8U7	Missense_Mutation	SNP	NULL	p.S265F	ENST00000344762.5	37	c.794	CCDS44756.1	11	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369019	0.42003	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.36520	1.25;1.25	3.97	2.06	0.26882	.	2.445670	0.02239	N	0.065555	T	0.39306	0.1073	L	0.56769	1.78	0.09310	N	1	B	0.23735	0.09	B	0.26310	0.068	T	0.32188	-0.9916	10	0.62326	D	0.03	-1.1	6.7909	0.23699	0.0:0.7831:0.0:0.2169	.	265	Q0P6D6	CCD15_HUMAN	F	265	ENSP00000435403:S265F;ENSP00000341684:S265F	ENSP00000341684:S265F	S	+	2	0	CCDC15	124361888	0.036000	0.19791	0.012000	0.15200	0.079000	0.17450	0.408000	0.21065	0.630000	0.30394	0.467000	0.42956	TCT	CCDC15	-	NULL	ENSG00000149548		0.453	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC15	HGNC	protein_coding	OTTHUMT00000387131.1	-	0	51	0	C	NM_025004		124856678	1	tier1	-	no_errors	ENST00000344762	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.016	T	T	124856678	C	T	124856678	3	4	90	1	0	0	0	0	1	0	0	0	2791	913	32	3	816	3	CCDC15	11	124856678	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3930843	124856678	10149838	205	25940											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128843098	128843098	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctagagcaactgcagagtaAgaactggacagattatcttc	14	10	9	8	0	2	4	0	0	2	4	3	5	2	5	0	1	4	3	0	1	5	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:128843098A>C	ENST00000310343.9	-	21	3260	c.3261T>G	c.(3259-3261)tcT>tcG	p.S1087S	ARHGAP32_ENST00000527272.1_Silent_p.S738S|ARHGAP32_ENST00000392657.3_Silent_p.S738S|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1087					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCAGAGTAAGAACTGGACA	0.478																																																	0													169	167	168					11																	128843098		2201	4297	6498	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.3261T>G	11.37:g.128843098A>C			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.S1087	ENST00000310343.9	37	c.3261	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.478	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	63	0	A	NM_014715		128843098	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	silent	27.50	58	22	SNP	0.000	C	C	128843098	A	C	128843098	2	2	90	1	0	0	0	0	0	0	0	1	881	59	3	4		4	ARHGAP32	11	128843098	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	3986420	128843098	6163418	206	25941											
ARHGAP32	9743	genome.wustl.edu	37	chr11	128844307	128844307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgacacccgtggtggtaGggtcactgaaattggctcag	8	11	13	9	1	3	2	2	2	1	0	3	2	3	2	1	4	0	2	1	4	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr11:128844307G>A	ENST00000310343.9	-	20	2742	c.2743C>T	c.(2743-2745)Cta>Tta	p.L915L	ARHGAP32_ENST00000527272.1_Silent_p.L566L|ARHGAP32_ENST00000392657.3_Silent_p.L566L|ARHGAP32_ENST00000524655.1_Silent_p.L841L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	915					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGTGGTGGTAGGGTCACTGAA	0.448																																																	0													174	159	164					11																	128844307		2201	4297	6498	SO:0001819	synonymous_variant	0			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"Rho GTPase activating proteins"	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2743C>T	11.37:g.128844307G>A			I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Silent	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L915	ENST00000310343.9	37	c.2743	CCDS44769.1	11																																																																																			ARHGAP32	-	NULL	ENSG00000134909		0.448	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	-	0	68	0	G	NM_014715		128844307	-1	tier1	-	no_errors	ENST00000310343	ensembl	human	known	74_37	silent	21.82	43	12	SNP	0.013	A	A	128844307	G	A	128844307	2	1	90	1	0	0	0	0	0	0	0	1	881	991	35	3		3	ARHGAP32	11	128844307	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1209	128844307	6162209	207	25942											
FGF6	2251	genome.wustl.edu	37	chr12	4554486	4554486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagagcctccgctgcCgcttgatccccaccaaatag	9	8	9	15	2	0	2	0	1	0	1	2	2	2	2	6	0	3	4	6	0	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:4554486C>T	ENST00000228837.2	-	1	294	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	84					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CCTCCGCTGCCGCTTGATCCC	0.652																																																	0													84	74	78					12																	4554486		2203	4300	6503	SO:0001583	missense	0			X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"Endogenous ligands"	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.251G>A	12.37:g.4554486C>T	ENSP00000228837:p.Arg84Gln		Q0VAE1	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R84Q	ENST00000228837.2	37	c.251	CCDS8527.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966252	0.92855	.	.	ENSG00000111241	ENST00000228837	D	0.84589	-1.87	5.3	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.93910	0.8051	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95231	0.8342	10	0.87932	D	0	.	14.2222	0.65836	0.0:0.9279:0.0:0.0721	.	84	P10767	FGF6_HUMAN	Q	84	ENSP00000228837:R84Q	ENSP00000228837:R84Q	R	-	2	0	FGF6	4424747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	1.373000	0.46208	0.655000	0.94253	CGG	FGF6	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000111241		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF6	HGNC	protein_coding	OTTHUMT00000398939.1	-	0	70	0	C	NM_020996		4554486	-1	tier1	-	no_errors	ENST00000228837	ensembl	human	known	74_37	missense	29.69	45	19	SNP	1.000	T	T	4554486	C	T	4554486	3	4	90	1	0	0	0	0	1	0	0	0	5878	652	23	1	387	1	FGF6	12	4554486	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		4554486	129297409	208	25943											
VWF	7450	genome.wustl.edu	37	chr12	6182795	6182795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttcattaccagggcagctGcagccatccacgcatcgctc	9	8	9	15	2	1	0	1	0	0	0	4	0	2	0	3	1	4	6	3	1	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:6182795G>A	ENST00000261405.5	-	8	1241	c.987C>T	c.(985-987)tgC>tgT	p.C329C		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	329	TIL 1.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.C329*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGCAGCTGCAGCCATCCA	0.532																																																	1	Substitution - Nonsense(1)	lung(1)											109	92	98					12																	6182795		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.987C>T	12.37:g.6182795G>A			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.C329	ENST00000261405.5	37	c.987	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom	ENSG00000110799		0.532	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	38	0	G	NM_000552		6182795	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	25.00	15	5	SNP	1.000	A	A	6182795	G	A	6182795	2	1	90	1	0	0	0	0	0	0	0	1	17295	1311	46	3		3	VWF	12	6182795	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1628309	6182795	127669100	209	25944											
PLEKHG6	55200	genome.wustl.edu	37	chr12	6428024	6428024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgctggagaagctcgtgtgCcaacccctgcgagaccccag	9	6	12	14	2	0	2	0	0	0	2	1	4	0	2	5	1	5	2	5	1	2	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:6428024C>T	ENST00000396988.3	+	12	1619	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	PLEKHG6_ENST00000536531.1_Silent_p.C463C|PLEKHG6_ENST00000011684.7_Silent_p.C463C|PLEKHG6_ENST00000449001.2_Silent_p.C431C|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	463	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCTCGTGTGCCAACCCCTGC	0.567																																																	0													128	112	118					12																	6428024		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1389C>T	12.37:g.6428024C>T			Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.C463	ENST00000396988.3	37	c.1389	CCDS8541.1	12																																																																																			PLEKHG6	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000008323		0.567	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	-	0	49	0	C	NM_018173		6428024	1	tier1	-	no_errors	ENST00000011684	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.942	T	T	6428024	C	T	6428024	2	4	90	1	0	0	0	0	0	0	0	1	12113	747	26	3		3	PLEKHG6	12	6428024	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	245229	6428024	127423871	210	25945											
USP5	8078	genome.wustl.edu	37	chr12	6965536	6965536	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcaggaggtgcaggcatGggatggggaagtacggcagg	11	4	20	6	1	0	0	0	0	0	0	0	3	0	3	0	8	3	5	0	8	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:6965536G>A	ENST00000229268.8	+	5	558	c.506G>A	c.(505-507)tGg>tAg	p.W169*	USP5_ENST00000389231.5_Nonsense_Mutation_p.W169*	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	169					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GTGCAGGCATGGGATGGGGAA	0.627																																																	0													86	78	81					12																	6965536		2203	4300	6503	SO:0001587	stop_gained	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.506G>A	12.37:g.6965536G>A	ENSP00000229268:p.Trp169*		D3DUS7|D3DUS8|Q96J22	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.W169*	ENST00000229268.8	37	c.506	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.024504	0.97211	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	.	.	.	4.8	4.8	0.61643	.	0.111287	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0566	0.89365	0.0:0.0:1.0:0.0	.	.	.	.	X	169	.	ENSP00000229268:W169X	W	+	2	0	USP5	6835797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.254000	0.95512	2.488000	0.83962	0.551000	0.68910	TGG	USP5	-	pirsf_Ubiquitinyl_hydrolase	ENSG00000111667		0.627	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	-	0	41	0	G			6965536	1	tier1	-	no_errors	ENST00000229268	ensembl	human	known	74_37	nonsense	16.67	30	6	SNP	1.000	A	A	6965536	G	A	6965536	4	1	90	1	0	0	0	0	0	1	0	0	17130	1357	47	3	524	3	USP5	12	6965536	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	537512	6965536	126886359	211	25946											
PEX5	5830	genome.wustl.edu	37	chr12	7344239	7344239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggagatgctgtggatGtaactcaggattataatgag	12	11	13	5	0	1	2	1	1	0	1	1	5	1	4	0	3	3	3	0	3	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:7344239G>T	ENST00000455147.2	+	6	971	c.391G>T	c.(391-393)Gta>Tta	p.V131L	RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000545220.1_3'UTR|PEX5_ENST00000266563.5_Missense_Mutation_p.V131L|PEX5_ENST00000412720.2_Missense_Mutation_p.V152L|PEX5_ENST00000420616.2_Missense_Mutation_p.V131L|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000434354.2_Missense_Mutation_p.V146L|PEX5_ENST00000266564.3_Missense_Mutation_p.V131L	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	131					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TGCTGTGGATGTAACTCAGGA	0.448																																																	0													104	100	102					12																	7344239		2203	4300	6503	SO:0001583	missense	0			U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"Tetratricopeptide (TTC) repeat domain containing"	9719	protein-coding gene	gene with protein product		600414	"peroxisome receptor 1"	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.391G>T	12.37:g.7344239G>T	ENSP00000400647:p.Val131Leu		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V146L	ENST00000455147.2	37	c.436	CCDS44823.1	12	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365960	0.24684	.	.	ENSG00000139197	ENST00000536883;ENST00000542539;ENST00000455147;ENST00000266563;ENST00000543974;ENST00000434354;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000537873;ENST00000266564;ENST00000545845	D;D;D;D;D;D;D	0.87256	-2.21;-2.21;-2.22;-2.21;-2.23;-2.04;-2.22	4.04	3.12	0.35913	.	0.453502	0.22643	N	0.057428	T	0.78761	0.4334	L	0.34521	1.04	0.34948	D	0.750942	B;B;B;B;B	0.11235	0.004;0.0;0.001;0.001;0.001	B;B;B;B;B	0.15484	0.013;0.002;0.001;0.002;0.004	T	0.77568	-0.2539	10	0.28530	T	0.3	.	10.3604	0.43989	0.0954:0.0:0.9046:0.0	.	152;146;131;131;131	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	L	48;131;131;131;48;146;119;131;152;146;131;131;48	ENSP00000400647:V131L;ENSP00000266563:V131L;ENSP00000407401:V146L;ENSP00000410159:V131L;ENSP00000391601:V152L;ENSP00000379877:V146L;ENSP00000266564:V131L	ENSP00000266563:V131L	V	+	1	0	PEX5	7235506	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.371000	0.44248	2.075000	0.62263	0.491000	0.48974	GTA	PEX5	-	NULL	ENSG00000139197		0.448	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX5	HGNC	protein_coding	OTTHUMT00000398611.1	-	0	62	0	G	NM_000319		7344239	1	tier1	-	no_errors	ENST00000434354	ensembl	human	known	74_37	missense	5.80	64	4	SNP	0.992	T	T	7344239	G	T	7344239	3	4	90	1	0	0	0	0	1	0	0	0	11787	1377	48	3	450	3	PEX5	12	7344239	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	378703	7344239	126507656	212	25947											
GRIN2B	2904	genome.wustl.edu	37	chr12	13717503	13717503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagtgtgtgttgttcatgGttgcggtgggggagttcatt	4	16	18	3	1	2	0	2	0	0	0	2	2	2	2	0	5	1	4	0	5	0	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:13717503G>A	ENST00000609686.1	-	13	2878	c.2669C>T	c.(2668-2670)aCc>aTc	p.T890I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	890					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.T890I(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTGTTCATGGTTGCGGTGGG	0.572																																																	1	Substitution - Missense(1)	lung(1)											133	119	124					12																	13717503		2203	4300	6503	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2669C>T	12.37:g.13717503G>A	ENSP00000477455:p.Thr890Ile		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T890I	ENST00000609686.1	37	c.2669	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451279	0.63290	.	.	ENSG00000150086	ENST00000279593	T	0.12465	2.68	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.050900	0.85682	D	0.000000	T	0.33206	0.0855	L	0.55481	1.735	0.80722	D	1	D	0.59767	0.986	D	0.63703	0.917	T	0.00942	-1.1506	10	0.52906	T	0.07	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	890	Q13224	NMDE2_HUMAN	I	890	ENSP00000279593:T890I	ENSP00000279593:T890I	T	-	2	0	GRIN2B	13608770	1.000000	0.71417	0.951000	0.38953	0.776000	0.43924	9.835000	0.99442	2.561000	0.86390	0.655000	0.94253	ACC	GRIN2B	-	pfam_NMDAR2_C	ENSG00000273079		0.572	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2		0	22	0	G			13717503	-1			no_errors	ENST00000609686	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	A	A	13717503	G	A	13717503	3	1	90	1	0	0	0	0	1	0	0	0	6807	1261	44	3	1789	3	GRIN2B	12	13717503	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	6373264	13717503	120134392	213	25948											
LRRK2	120892	genome.wustl.edu	37	chr12	40645037	40645037	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatttttttcaagctgAgactattttcttaaatcaag	12	19	4	6	0	4	1	3	1	1	1	4	2	4	1	0	0	1	1	0	0	6	8			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:40645037A>C	ENST00000298910.7	+	9	1020	c.962A>C	c.(961-963)gAg>gCg	p.E321A	LRRK2_ENST00000343742.2_Missense_Mutation_p.E321A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	321					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				tttCAAGCTGAGACTATTTTC	0.289											OREG0003829	type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													22	24	23					12																	40645037		2188	4298	6486	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"Parkinson disease"	18618	protein-coding gene	gene with protein product		609007	"Parkinson disease (autosomal dominant) 8"	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.962A>C	12.37:g.40645037A>C	ENSP00000298910:p.Glu321Ala	895	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.E321A	ENST00000298910.7	37	c.962	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	15.30	2.793970	0.50102	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.72615	2.16;-0.67	5.66	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);	0.121584	0.53938	D	0.000055	T	0.63920	0.2552	L	0.50333	1.59	0.35427	D	0.7937	B	0.29805	0.257	B	0.31016	0.123	T	0.69924	-0.5013	10	0.72032	D	0.01	.	9.3449	0.38102	0.9174:0.0:0.0826:0.0	.	321	Q5S007	LRRK2_HUMAN	A	321	ENSP00000341930:E321A;ENSP00000298910:E321A	ENSP00000298910:E321A	E	+	2	0	LRRK2	38931304	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.260000	0.72502	0.982000	0.38575	0.533000	0.62120	GAG	LRRK2	-	superfamily_ARM-type_fold	ENSG00000188906		0.289	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0	25	0	A	XM_058513		40645037	1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	37.50	14	9	SNP	1.000	C	C	40645037	A	C	40645037	3	2	90	1	0	0	0	0	1	0	0	0	9068	304	11	4	996	4	LRRK2	12	40645037	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	26927534	40645037	93206858	214	25949											
C12orf68	387856	genome.wustl.edu	37	chr12	48578103	48578103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaggggggccctggaCgagcaggcctcgcacatcca	8	4	15	14	2	0	1	0	1	0	0	2	3	1	2	4	5	1	2	4	5	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:48578103C>T	ENST00000316554.3	+	1	738	c.198C>T	c.(196-198)gaC>gaT	p.D66D		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		66						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGGCCCTGGACGAGCAGGCCT	0.642																																																	0													50	52	51					12																	48578103		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000316554.3:c.198C>T	12.37:g.48578103C>T			Q96MK5|Q96N39	Silent	SNP	NULL	p.D66	ENST00000316554.3	37	c.198	CCDS31785.1	12																																																																																			C12orf68	-	NULL	ENSG00000177875		0.642	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	-	0	94	0	C			48578103	1	tier1	-	no_errors	ENST00000316554	ensembl	human	known	74_37	silent	22.58	48	14	SNP	1.000	T	T	48578103	C	T	48578103	2	4	90	1	0	0	0	0	0	0	0	1	1715	535	19	1		1	C12orf68	12	48578103	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	7933066	48578103	85273792	215	25950											
MLL2	8085	genome.wustl.edu	37	chr12	49431061	49431061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcctgccctccatgctGcccacttagcatatgccctt	5	11	7	18	0	0	0	0	0	0	0	1	0	1	0	6	0	6	2	6	0	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:49431061G>T	ENST00000301067.7	-	34	10077	c.10078C>A	c.(10078-10080)Cag>Aag	p.Q3360K	KMT2D_ENST00000549743.1_5'UTR	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3360	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q3090*(1)|p.Q3360*(1)									CCTCCATGCTGCCCACTTAGC	0.602																																																	2	Substitution - Nonsense(2)	lung(2)											38	40	39					12																	49431061		2123	4251	6374	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10078C>A	12.37:g.49431061G>T	ENSP00000301067:p.Gln3360Lys		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3360K	ENST00000301067.7	37	c.10078	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	9.780	1.174961	0.21704	.	.	ENSG00000167548	ENST00000301067	D	0.87334	-2.24	5.61	4.67	0.58626	.	0.000000	0.36409	N	0.002604	D	0.84106	0.5399	L	0.29908	0.895	0.35151	D	0.769738	D	0.54207	0.965	P	0.47251	0.542	D	0.89408	0.3701	10	0.87932	D	0	.	16.2333	0.82358	0.0:0.1327:0.8673:0.0	.	3360	O14686	MLL2_HUMAN	K	3360	ENSP00000301067:Q3360K	ENSP00000301067:Q3360K	Q	-	1	0	MLL2	47717328	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.425000	0.73370	2.826000	0.97356	0.655000	0.94253	CAG	KMT2D	-	NULL	ENSG00000167548		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	52	0	G			49431061	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.997	T	T	49431061	G	T	49431061	3	4	90	1	0	0	0	0	1	0	0	0	9659	1328	46	3	6619	3	MLL2	12	49431061	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	852958	49431061	84420834	216	25951											
DIP2B	57609	genome.wustl.edu	37	chr12	51102285	51102285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcattgtggtggttgcGgaacaaagacctgatgcttc	9	10	14	8	2	0	2	0	1	0	1	1	4	0	3	1	3	4	3	1	3	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:51102285G>A	ENST00000301180.5	+	22	2623	c.2589G>A	c.(2587-2589)gcG>gcA	p.A863A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	863						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGTGGTTGCGGAACAAAGAC	0.493																																																	0													269	196	220					12																	51102285		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2589G>A	12.37:g.51102285G>A			Q6B011|Q8N1L5|Q8NB38	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.A863	ENST00000301180.5	37	c.2589	CCDS31799.1	12																																																																																			DIP2B	-	NULL	ENSG00000066084		0.493	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	-	0	86	0	G	NM_173602		51102285	1	tier1	-	no_errors	ENST00000301180	ensembl	human	known	74_37	silent	23.26	66	20	SNP	0.994	A	A	51102285	G	A	51102285	2	1	90	1	0	0	0	0	0	0	0	1	4542	1103	39	1		1	DIP2B	12	51102285	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1671224	51102285	82749610	217	25952											
POU6F1	5463	genome.wustl.edu	37	chr12	51585419	51585419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggctggaccttccgttgCagtcagagcctgacccacct	7	9	11	14	1	1	2	1	1	0	1	2	3	2	3	5	2	2	4	5	2	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:51585419C>T	ENST00000389243.4	-	10	1459	c.520G>A	c.(520-522)Gca>Aca	p.A174T	POU6F1_ENST00000550824.1_Missense_Mutation_p.A174T|POU6F1_ENST00000333640.10_Missense_Mutation_p.A174T			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	174	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCTTCCGTTGCAGTCAGAGCC	0.592																																																	0													57	54	55					12																	51585419		2203	4300	6503	SO:0001583	missense	0			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"Homeoboxes / POU class"	9224	protein-coding gene	gene with protein product			"POU domain, class 6, transcription factor 1"			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.520G>A	12.37:g.51585419C>T	ENSP00000373895:p.Ala174Thr		Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A174T	ENST00000389243.4	37	c.520	CCDS31803.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.146411	0.94603	.	.	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.83914	-1.78;-1.78;-1.78	5.28	5.28	0.74379	POU-specific (3);Lambda repressor-like, DNA-binding (2);POU (1);	0.054132	0.64402	D	0.000001	T	0.76652	0.4017	L	0.31664	0.95	0.80722	D	1	P	0.41366	0.747	B	0.43386	0.418	T	0.73116	-0.4084	10	0.08381	T	0.77	.	17.6761	0.88232	0.0:1.0:0.0:0.0	.	174	Q14863	PO6F1_HUMAN	T	174	ENSP00000373895:A174T;ENSP00000330190:A174T;ENSP00000448389:A174T	ENSP00000330190:A174T	A	-	1	0	POU6F1	49871686	1.000000	0.71417	0.460000	0.27093	0.953000	0.61014	7.772000	0.85439	2.476000	0.83614	0.561000	0.74099	GCA	POU6F1	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU	ENSG00000184271		0.592	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU6F1	HGNC	protein_coding	OTTHUMT00000405126.1	-	0	117	0	C	NM_002702		51585419	-1	tier1	-	no_errors	ENST00000333640	ensembl	human	known	74_37	missense	5.17	110	6	SNP	1.000	T	T	51585419	C	T	51585419	3	4	90	1	0	0	0	0	1	0	0	0	12323	710	25	3	393	3	POU6F1	12	51585419	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	483134	51585419	82266476	218	25953											
SCN8A	6334	genome.wustl.edu	37	chr12	52078015	52078015	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttagtgccacgcctgccTtgtacattttaagtcctttt	7	17	7	10	1	0	0	0	0	0	0	1	1	1	0	4	0	3	1	4	0	3	8			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:52078015T>A	ENST00000354534.6	+	3	512	c.334T>A	c.(334-336)Ttg>Atg	p.L112M	SCN8A_ENST00000545061.1_Missense_Mutation_p.L112M|SCN8A_ENST00000550891.1_Missense_Mutation_p.L112M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	112					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CACGCCTGCCTTGTACATTTT	0.363																																																	0													98	98	98					12																	52078015		1861	4095	5956	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10596	protein-coding gene	gene with protein product		600702	"sodium channel, voltage gated, type VIII, alpha polypeptide"	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.334T>A	12.37:g.52078015T>A	ENSP00000346534:p.Leu112Met		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.L112M	ENST00000354534.6	37	c.334	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984177	0.74474	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.97850	-4.5;-4.57;-4.48;-4.36	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000003	D	0.98140	0.9386	M	0.81614	2.55	0.58432	D	0.999997	D	0.67145	0.996	P	0.57548	0.823	D	0.98083	1.0405	10	0.41790	T	0.15	.	14.9233	0.70856	0.0:0.0:0.0:1.0	.	112	Q9UQD0	SCN8A_HUMAN	M	112;112;112;112;25	ENSP00000448415:L112M;ENSP00000346534:L112M;ENSP00000440360:L112M;ENSP00000347255:L112M	ENSP00000346534:L112M	L	+	1	2	SCN8A	50364282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.777000	0.38604	2.178000	0.69098	0.533000	0.62120	TTG	SCN8A	-	NULL	ENSG00000196876		0.363	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0	57	0	T	NM_014191		52078015	1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A	A	52078015	T	A	52078015	3	1	90	1	0	0	0	0	1	0	0	0	13969	1606	56	5	340	5	SCN8A	12	52078015	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	492596	52078015	81773880	219	25954											
SMUG1	23583	genome.wustl.edu	37	chr12	54576323	54576323	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtcccagcactggtcGtttaggatgctcttggggag	6	11	13	11	1	1	0	0	0	1	0	4	2	3	2	2	4	2	3	2	4	1	3	rs139760820		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:54576323G>A	ENST00000508394.2	-	3	432	c.370C>T	c.(370-372)Cga>Tga	p.R124*	SMUG1_ENST00000513838.1_Nonsense_Mutation_p.R124*|SMUG1_ENST00000514685.1_Nonsense_Mutation_p.R124*|SMUG1_ENST00000506595.1_Nonsense_Mutation_p.R124*|SMUG1_ENST00000243112.5_Nonsense_Mutation_p.R124*|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514196.1_Nonsense_Mutation_p.R124*|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000401977.2_Nonsense_Mutation_p.R124*|SMUG1_ENST00000337581.3_Nonsense_Mutation_p.R124*	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	124				Missing (in Ref. 3; BAC03670). {ECO:0000305}.	base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						AGCACTGGTCGTTTAGGATGC	0.587								Base excision repair (BER), DNA glycosylases																																									0								G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	96	99	98		370	4.9	1	12	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	SMUG1	NM_014311.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		124/271	54576323	2,13004	2203	4300	6503	SO:0001587	stop_gained	0			AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.370C>T	12.37:g.54576323G>A	ENSP00000424191:p.Arg124*		A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Nonsense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	p.R124*	ENST00000508394.2	37	c.370	CCDS8874.1	12	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970004	0.92855	2.27E-4	1.16E-4	ENSG00000123415	ENST00000506595;ENST00000514685;ENST00000337581;ENST00000508394;ENST00000513838;ENST00000243112;ENST00000401977;ENST00000514196;ENST00000504338	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0383	0.47816	0.0:0.0:0.7015:0.2985	.	.	.	.	X	124	.	ENSP00000243112:R124X	R	-	1	2	SMUG1	52862590	0.991000	0.36638	1.000000	0.80357	0.946000	0.59487	1.147000	0.31602	2.415000	0.81967	0.563000	0.77884	CGA	SMUG1	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like	ENSG00000123415		0.587	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMUG1	HGNC	protein_coding	OTTHUMT00000359074.3	-	0	45	0	G	NM_014311		54576323	-1	tier1	rs139760820	no_errors	ENST00000337581	ensembl	human	known	74_37	nonsense	32.61	31	15	SNP	1.000	A	A	54576323	G	A	54576323	4	1	90	1	0	0	0	0	0	1	0	0	14863	1153	40	1	446	1	SMUG1	12	54576323	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2498308	54576323	79275572	220	25955											
AGAP2	116986	genome.wustl.edu	37	chr12	58130970	58130970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccctcctgtgctctTggtgaagatgccgctgataa	8	10	13	10	1	1	3	0	2	1	1	2	4	2	4	3	3	2	2	3	3	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:58130970T>C	ENST00000547588.1	-	1	1059	c.1060A>G	c.(1060-1062)Aag>Gag	p.K354E	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	354	Interaction with PLCG1. {ECO:0000250}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTGTGCTCTTGGTGAAGATG	0.692																																																	0													10	13	12					12																	58130970		1555	3568	5123	SO:0001583	missense	0			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16921	protein-coding gene	gene with protein product		605476	"centaurin, gamma 1"	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1060A>G	12.37:g.58130970T>C	ENSP00000449241:p.Lys354Glu		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.K354E	ENST00000547588.1	37	c.1060	CCDS44932.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.50|19.50	3.839837|3.839837	0.71488|0.71488	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000547588|ENST00000328568	T|.	0.38560|.	1.13|.	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	0.325536|.	0.30565|.	N|.	0.009360|.	T|T	0.43033|0.43033	0.1229|0.1229	N|N	0.19112|0.19112	0.55|0.55	0.42037|0.42037	D|D	0.991059|0.991059	D;D|.	0.67145|.	0.996;0.993|.	D;D|.	0.73708|.	0.981;0.956|.	T|T	0.31503|0.31503	-0.9941|-0.9941	10|5	0.87932|.	D|.	0|.	.|.	11.7392|11.7392	0.51784|0.51784	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	354;354|.	F8VVT9;Q99490|.	.;AGAP2_HUMAN|.	E|R	354|217	ENSP00000449241:K354E|.	ENSP00000449241:K354E|.	K|Q	-|-	1|2	0|0	AGAP2|AGAP2	56417237|56417237	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.496000|3.496000	0.53288|0.53288	2.026000|2.026000	0.59711|0.59711	0.454000|0.454000	0.30748|0.30748	AAG|CAA	AGAP2	-	NULL	ENSG00000135439		0.692	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	HGNC	protein_coding	OTTHUMT00000408367.1	-	0	123	0	T	NM_014770		58130970	-1	tier1	-	no_errors	ENST00000547588	ensembl	human	known	74_37	missense	15.22	77	14	SNP	1.000	C	C	58130970	T	C	58130970	3	2	90	1	0	0	0	0	1	0	0	0	368	1821	63	4	2594	4	AGAP2	12	58130970	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	3554647	58130970	75720925	221	25956											
ZDHHC17	23390	genome.wustl.edu	37	chr12	77202869	77202869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcaacttggaggggacCtgaattcaactccattgcac	11	10	10	10	0	2	1	2	1	0	0	3	4	3	4	2	4	3	1	2	4	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:77202869C>A	ENST00000426126.2	+	4	1016	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	ZDHHC17_ENST00000359019.4_Missense_Mutation_p.L73M|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.L123M	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	123					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGAGGGGACCTGAATTCAAC	0.284																																																	0													73	71	71					12																	77202869		1796	4064	5860	SO:0001583	missense	0			AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"Zinc fingers, DHHC-type", "Ankyrin repeat domain containing"	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.367C>A	12.37:g.77202869C>A	ENSP00000403397:p.Leu123Met		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt	p.L123M	ENST00000426126.2	37	c.367	CCDS44946.1	12	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372778	0.61624	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000549682	T;T;T;T	0.71341	1.3;1.3;0.99;-0.56	5.24	2.47	0.30058	Ankyrin repeat-containing domain (3);	0.065707	0.64402	D	0.000008	T	0.75752	0.3892	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73858	-0.3850	10	0.62326	D	0.03	-5.6875	9.3672	0.38232	0.0:0.687:0.0:0.313	.	123	Q8IUH5	ZDH17_HUMAN	M	123;123;73;100	ENSP00000403397:L123M;ENSP00000334868:L123M;ENSP00000351913:L73M;ENSP00000450295:L100M	ENSP00000334868:L123M	L	+	1	2	ZDHHC17	75727000	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	2.514000	0.45503	0.370000	0.24538	-0.142000	0.14014	CTG	ZDHHC17	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000186908		0.284	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC17	HGNC	protein_coding	OTTHUMT00000406555.1		0	92	0	C	NM_015336		77202869	1			no_errors	ENST00000334822	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	77202869	C	A	77202869	3	1	90	1	0	0	0	0	1	0	0	0	17655	680	24	3	381	3	ZDHHC17	12	77202869	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	19071899	77202869	56649026	222	25957											
SLC5A8	160728	genome.wustl.edu	37	chr12	101595959	101595959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taccttgattcaaagccaggGcaggggcataaataacaatt	15	9	9	8	0	1	1	1	1	0	0	1	1	1	1	2	3	3	2	2	3	6	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:101595959G>T	ENST00000536262.2	-	3	1010	c.452C>A	c.(451-453)gCc>gAc	p.A151D	RNU6-768P_ENST00000384683.1_RNA	NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAAGCCAGGGCAGGGGCATA	0.383																																					GBM(60;420 1056 13605 22380 47675)												0													57	56	56					12																	101595959		2203	4300	6503	SO:0001583	missense	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"Solute carriers"	19119	protein-coding gene	gene with protein product		608044	"solute carrier family 5 (iodide transporter), member 8"			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.452C>A	12.37:g.101595959G>T	ENSP00000445340:p.Ala151Asp			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A151D	ENST00000536262.2	37	c.452	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994742	0.93167	.	.	ENSG00000256870	ENST00000536262	D	0.93133	-3.17	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	H	0.95780	3.72	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.98607	1.0661	10	0.87932	D	0	.	19.7398	0.96223	0.0:0.0:1.0:0.0	.	151	Q8N695	SC5A8_HUMAN	D	151	ENSP00000445340:A151D	ENSP00000445340:A151D	A	-	2	0	SLC5A8	100120090	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.744000	0.98853	2.665000	0.90641	0.561000	0.74099	GCC	SLC5A8	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000256870		0.383	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1		0	84	0	G	NM_145913		101595959	-1			no_errors	ENST00000536262	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	101595959	G	T	101595959	3	4	90	1	0	0	0	0	1	0	0	0	14716	1203	42	3	1432	3	SLC5A8	12	101595959	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	24393090	101595959	32255936	223	25958											
RNF10	9921	genome.wustl.edu	37	chr12	121004647	121004647	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacccagaagtccacattccCctcgagaatctacagcagtt	12	8	7	14	1	1	2	0	0	1	2	4	4	3	2	4	0	2	2	4	0	3	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:121004647C>A	ENST00000325954.4	+	13	2366	c.1905C>A	c.(1903-1905)ccC>ccA	p.P635P	RNF10_ENST00000413266.2_Silent_p.P640P	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	635					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCACATTCCCCTCGAGAATC	0.458																																																	0													111	110	110					12																	121004647		2203	4300	6503	SO:0001819	synonymous_variant	0			AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"RING-type (C3HC4) zinc fingers"	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1905C>A	12.37:g.121004647C>A			Q92550|Q9NPP8|Q9ULW4	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P640	ENST00000325954.4	37	c.1920	CCDS9201.1	12																																																																																			RNF10	-	NULL	ENSG00000022840		0.458	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF10	HGNC	protein_coding	OTTHUMT00000401898.4		0	61	0	C			121004647	1			no_errors	ENST00000413266	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.998	A	A	121004647	C	A	121004647	2	1	90	1	0	0	0	0	0	0	0	1	13467	610	22	3		3	RNF10	12	121004647	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	19408688	121004647	12847248	224	25959											
KDM2B	84678	genome.wustl.edu	37	chr12	121947744	121947744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgccctcctcgtcctTctcctcctcctcctgaggct	1	12	6	22	2	1	1	0	1	1	0	9	1	6	1	8	1	0	1	8	1	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:121947744T>C	ENST00000377071.4	-	11	1345	c.1273A>G	c.(1273-1275)Aag>Gag	p.K425E	KDM2B_ENST00000538046.2_Missense_Mutation_p.K335E|KDM2B_ENST00000377069.4_Missense_Mutation_p.K394E|KDM2B_ENST00000536437.1_Missense_Mutation_p.K308E|KDM2B_ENST00000542973.1_5'Flank	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	425	Glu-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						tcctcgtccttctcctcctcc	0.652																																																	0													40	47	45					12																	121947744		2060	4179	6239	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1273A>G	12.37:g.121947744T>C	ENSP00000366271:p.Lys425Glu		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.K425E	ENST00000377071.4	37	c.1273	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	T	3.554	-0.091097	0.07053	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152	T;T;T;T	0.41065	2.59;1.99;1.02;1.01	4.96	1.65	0.23941	.	0.461423	0.20010	N	0.101143	T	0.24851	0.0603	L	0.34521	1.04	0.32970	D	0.522269	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36261	-0.9755	10	0.06625	T	0.88	-1.8817	8.476	0.33014	0.0:0.7129:0.0:0.2871	.	425;308;425;394	E7EML5;Q1RLM7;Q8NHM5;A8MRS1	.;.;KDM2B_HUMAN;.	E	425;394;425;308;425;425;388	ENSP00000366269:K394E;ENSP00000366271:K425E;ENSP00000445196:K308E;ENSP00000398279:K388E	ENSP00000261824:K425E	K	-	1	0	KDM2B	120432127	0.001000	0.12720	0.782000	0.31804	0.758000	0.43043	-1.118000	0.03280	0.087000	0.17167	-0.408000	0.06270	AAG	KDM2B	-	NULL	ENSG00000089094		0.652	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	-	0	50	0	T	NM_032590		121947744	-1	tier1	-	no_errors	ENST00000377071	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.996	C	C	121947744	T	C	121947744	3	2	90	1	0	0	0	0	1	0	0	0	8152	1792	62	4	2841	4	KDM2B	12	121947744	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	943097	121947744	11904151	225	25960											
DNAH10	196385	genome.wustl.edu	37	chr12	124401081	124401081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccctttcctgttccgCgatgttgatgaatacatcga	8	12	10	11	3	0	2	0	2	0	0	3	5	2	3	4	1	1	2	4	1	2	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr12:124401081C>T	ENST00000409039.3	+	62	10471	c.10446C>T	c.(10444-10446)cgC>cgT	p.R3482R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3482	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCTGTTCCGCGATGTTGATG	0.458																																																	0													123	122	122					12																	124401081		1983	4157	6140	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10446C>T	12.37:g.124401081C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.R3482	ENST00000409039.3	37	c.10446	CCDS9255.2	12																																																																																			DNAH10	-	NULL	ENSG00000197653		0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	69	0	C			124401081	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	27.08	35	13	SNP	0.796	T	T	124401081	C	T	124401081	2	4	90	1	0	0	0	0	0	0	0	1	4612	755	27	1		1	DNAH10	12	124401081	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2453337	124401081	9450814	226	25961											
PCDH8	5100	genome.wustl.edu	37	chr13	53422026	53422026	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcgtctgcagctccacGcgaaaggggctgtgcggctc	5	7	15	14	5	1	0	0	0	1	0	4	1	2	0	1	3	3	5	1	3	1	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr13:53422026G>A	ENST00000377942.3	-	1	749	c.546C>T	c.(544-546)cgC>cgT	p.R182R	PCDH8_ENST00000338862.4_Silent_p.R182R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	182	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCAGCTCCACGCGAAAGGGGC	0.721																																					GBM(36;25 841 9273 49207)												0													5	6	6					13																	53422026		1968	3896	5864	SO:0001819	synonymous_variant	0			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.546C>T	13.37:g.53422026G>A			B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R182	ENST00000377942.3	37	c.546	CCDS9438.1	13																																																																																			PCDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000136099		0.721	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH8	HGNC	protein_coding	OTTHUMT00000045108.2	-	0	11	0	G	NM_002590		53422026	-1	tier1	-	no_errors	ENST00000377942	ensembl	human	known	74_37	silent	60.00	4	6	SNP	0.784	A	A	53422026	G	A	53422026	2	1	90	1	0	0	0	0	0	0	0	1	11556	1074	38	1		1	PCDH8	13	53422026	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		53422026	61747852	227	25962											
ABCC4	10257	genome.wustl.edu	37	chr13	95830267	95830267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttgcaaggtttacccGtgctttctgccctccactca	6	14	6	15	1	2	0	1	0	1	0	3	0	3	0	4	1	5	3	4	1	3	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr13:95830267G>A	ENST00000376887.4	-	12	1738	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ABCC4_ENST00000536256.1_Missense_Mutation_p.R467W|ABCC4_ENST00000412704.1_Missense_Mutation_p.R542W|ABCC4_ENST00000431522.1_Missense_Mutation_p.R542W|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	542	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AGGTTTACCCGTGCTTTCTGC	0.498																																																	0													161	133	142					13																	95830267		2203	4300	6503	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"ATP binding cassette transporters / subfamily C"	55	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter (ABC superfamily)", "bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)", "multidrug resistance-associated protein 4", "multispecific organic anion transporter B"	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1624C>T	13.37:g.95830267G>A	ENSP00000366084:p.Arg542Trp		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM	p.R542W	ENST00000376887.4	37	c.1624	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703146	0.48412	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.93763	-3.28;-3.28;-2.59;-3.28	5.8	4.93	0.64822	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.98124	0.9381	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.98786	1.0734	10	0.87932	D	0	.	14.7244	0.69332	0.0:0.0:0.7423:0.2577	.	467;542;542;542;542	B7Z3Q7;A8K2Q2;O15439-2;Q8IVZ4;O15439	.;.;.;.;MRP4_HUMAN	W	542;542;467;542	ENSP00000388657:R542W;ENSP00000366084:R542W;ENSP00000442024:R467W;ENSP00000398562:R542W	ENSP00000366084:R542W	R	-	1	2	ABCC4	94628268	1.000000	0.71417	0.971000	0.41717	0.224000	0.24922	2.967000	0.49216	2.735000	0.93741	0.655000	0.94253	CGG	ABCC4	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.498	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	-	0	81	0	G	NM_005845		95830267	-1	tier1	-	no_errors	ENST00000376887	ensembl	human	known	74_37	missense	14.29	48	8	SNP	0.856	A	A	95830267	G	A	95830267	3	1	90	1	0	0	0	0	1	0	0	0	55	1144	40	1	2482	1	ABCC4	13	95830267	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	42408241	95830267	19339611	228	25963											
OXGR1	27199	genome.wustl.edu	37	chr13	97639316	97639316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctttctgcttaaggcagCtgtcagtttgcagtccatgg	6	14	12	9	0	2	0	1	0	1	0	3	0	3	0	1	2	4	6	1	2	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr13:97639316C>T	ENST00000298440.1	-	4	941	c.698G>A	c.(697-699)aGc>aAc	p.S233N	OXGR1_ENST00000543457.1_Missense_Mutation_p.S233N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	233					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			CTTAAGGCAGCTGTCAGTTTG	0.448																																																	0													162	156	158					13																	97639316		2203	4300	6503	SO:0001583	missense	0			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"GPCR / Class A : Orphans"	4531	protein-coding gene	gene with protein product	"2-oxoglutarate receptor 1", "alpha-ketoglutarate receptor 1"	606922	"G protein-coupled receptor 80"	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.698G>A	13.37:g.97639316C>T	ENSP00000298440:p.Ser233Asn		Q5T5A7|Q86TL1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S233N	ENST00000298440.1	37	c.698	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249699	0.39797	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.38077	1.16;1.16	5.83	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.427811	0.27159	N	0.020658	T	0.25827	0.0629	L	0.39147	1.195	0.32800	D	0.500043	B	0.12013	0.005	B	0.13407	0.009	T	0.29243	-1.0018	10	0.12430	T	0.62	.	8.6162	0.33833	0.0:0.7232:0.1362:0.1406	.	233	Q96P68	OXGR1_HUMAN	N	233	ENSP00000298440:S233N;ENSP00000438800:S233N	ENSP00000298440:S233N	S	-	2	0	OXGR1	96437317	0.892000	0.30473	0.986000	0.45419	0.899000	0.52679	2.348000	0.44045	1.634000	0.50500	0.650000	0.86243	AGC	OXGR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000165621		0.448	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	-	0	46	0	C	NM_080818		97639316	-1	tier1	-	no_errors	ENST00000298440	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	97639316	C	T	97639316	3	4	90	1	0	0	0	0	1	0	0	0	11371	797	28	3	319	3	OXGR1	13	97639316	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	1809049	97639316	17530562	229	25964											
IRS2	8660	genome.wustl.edu	37	chr13	110434578	110434580	+	In_Frame_Del	DEL	GCG	GCG	-																															cttgtctcccggctgaggaaGcggcggcggcggcggctgcg																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr13:110434578_110434580delGCG	ENST00000375856.3	-	1	4335_4337	c.3821_3823delCGC	c.(3820-3825)ccgctt>ctt	p.P1274del		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1274	Poly-Pro.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ggctgaggaagcggcggcggcgg	0.719																																					Melanoma(100;613 2409 40847)												0										24,2146		6,12,1067						-0.2	0			7	129,5017		21,87,2465	no	coding	IRS2	NM_003749.2		27,99,3532	A1A1,A1R,RR		2.5068,1.106,2.0913				153,7163				SO:0001651	inframe_deletion	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"Pleckstrin homology (PH) domain containing"	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3821_3823delCGC	13.37:g.110434587_110434589delGCG	ENSP00000365016:p.Pro1274del		Q96RR2|Q9BZG0|Q9Y6I5	In_Frame_Del	DEL	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1274in_frame_del	ENST00000375856.3	37	c.3823_3821	CCDS9510.1	13																																																																																			IRS2	-	NULL	ENSG00000185950		0.719	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1		0	44	0	GCG	NM_003749		110434580	-1	tier1		no_errors	ENST00000375856	ensembl	human	known	74_37	in_frame_del	6.90	27	2	DEL	0.047:0.045:0.006	-	-	110434580	GCG	-	110434578	7	5	90	1	0	1	0	1	0	0	0	0	7868	971	34	0	201	0	IRS2	13	110434578	In_Frame_Del	DEL	GCG	TCGA-L5-A8NR-01A-11D-A37C-09	12795262	110434578	4735300	230	25965											
OR4N2	390429	genome.wustl.edu	37	chr14	20296368	20296369	+	Missense_Mutation	DNP	GC	GC	CT																															attcttcatgtttggacctgGcatcttcatctacacgcgcc																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:20296368_20296369GC>CT	ENST00000315947.1	+	1	761_762	c.761_762GC>CT	c.(760-762)gGC>gCT	p.G254A	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	254						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGGACCTGGCATCTTCATCT	0.446																																																	0																																										SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		Exception_encountered	14.37:g.20296368_20296369delinsCT	ENSP00000319601:p.Gly254Ala		Q6IEY9|Q6IFA2	Missense_Mutation|Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G254A|p.G254	ENST00000315947.1	37	c.761|c.762	CCDS32022.1	14																																																																																			OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176294		0.446	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0	157	0	G|C			20296368|20296369	1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	missense|silent	6.36|6.31	103|104	7	SNP	0.013|0.014	C|T	CT	20296369	GC	CT	20296368	3	2	90	1	0	0	0	0	1	0	0	0	11116	1203	42	5	763	5	OR4N2	14	20296368	Missense_Mutation	DNP	GC	TCGA-L5-A8NR-01A-11D-A37C-09		20296368	87053172	231	25966											
MYH7	4625	genome.wustl.edu	37	chr14	23902923	23902923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggcagccccaaagactgCcatctccgaatctcccatgg	9	6	10	16	2	2	1	0	0	2	1	4	2	2	1	5	3	2	1	5	3	2	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:23902923C>A	ENST00000355349.3	-	3	181	c.19G>T	c.(19-21)Gca>Tca	p.A7S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	7					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAAAGACTGCCATCTCCGAA	0.607																																																	0													49	50	50					14																	23902923		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.19G>T	14.37:g.23902923C>A	ENSP00000347507:p.Ala7Ser		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A7S	ENST00000355349.3	37	c.19	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	8.567	0.879213	0.17395	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.85258	-1.96	4.11	3.2	0.36748	.	.	.	.	.	T	0.70116	0.3187	N	0.11131	0.1	0.53005	D	0.999963	B	0.02656	0.0	B	0.15484	0.013	T	0.59658	-0.7413	9	0.15066	T	0.55	.	12.8838	0.58032	0.1646:0.8354:0.0:0.0	.	7	P12883	MYH7_HUMAN	S	7	ENSP00000347507:A7S	ENSP00000347507:A7S	A	-	1	0	MYH7	22972763	1.000000	0.71417	0.958000	0.39756	0.276000	0.26787	1.056000	0.30480	0.801000	0.34066	0.555000	0.69702	GCA	MYH7	-	NULL	ENSG00000092054		0.607	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3		0	38	0	C	NM_000257		23902923	-1			no_errors	ENST00000355349	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	A	A	23902923	C	A	23902923	3	1	90	1	0	0	0	0	1	0	0	0	10077	739	26	3	5940	3	MYH7	14	23902923	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3606555	23902923	83446617	232	25967											
RPL10L	140801	genome.wustl.edu	37	chr14	47120705	47120705	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagccatctctgccacaacTtttcaccatgtatttgttgg	10	14	6	11	0	2	0	1	0	1	0	3	0	2	0	3	1	3	2	3	1	3	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:47120705T>G	ENST00000298283.3	-	1	323	c.235A>C	c.(235-237)Agt>Cgt	p.S79R		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	79					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTGCCACAACTTTTCACCATG	0.537																																																	0													69	68	69					14																	47120705		2203	4300	6503	SO:0001583	missense	0			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.235A>C	14.37:g.47120705T>G	ENSP00000298283:p.Ser79Arg		Q8IUD1	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.S79R	ENST00000298283.3	37	c.235	CCDS32071.1	14	.	.	.	.	.	.	.	.	.	.	T	11.75	1.731962	0.30684	.	.	ENSG00000165496	ENST00000298283	T	0.72282	-0.64	4.17	3.02	0.34903	Ribosomal protein L10e/L16 (2);	0.095984	0.64402	D	0.000001	T	0.61299	0.2336	L	0.42529	1.33	0.42704	D	0.993623	B	0.12013	0.005	B	0.31390	0.129	T	0.53129	-0.8482	10	0.25106	T	0.35	-34.948	8.0843	0.30762	0.0:0.0988:0.0:0.9012	.	79	Q96L21	RL10L_HUMAN	R	79	ENSP00000298283:S79R	ENSP00000298283:S79R	S	-	1	0	RPL10L	46190455	1.000000	0.71417	0.209000	0.23619	0.975000	0.68041	5.523000	0.67099	0.935000	0.37341	0.533000	0.62120	AGT	RPL10L	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	ENSG00000165496		0.537	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10L	HGNC	protein_coding	OTTHUMT00000349819.1	-	0	60	0	T			47120705	-1	tier1	-	no_errors	ENST00000298283	ensembl	human	known	74_37	missense	50.88	27	29	SNP	0.995	G	G	47120705	T	G	47120705	3	3	90	1	0	0	0	0	1	0	0	0	13601	1609	56	4	413	4	RPL10L	14	47120705	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	23217782	47120705	60228835	233	25968											
NIN	51199	genome.wustl.edu	37	chr14	51194411	51194411	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcagcccagttttcacAggtgcccaatccttctgtag	10	11	8	12	0	2	0	1	0	1	0	3	0	3	0	3	1	3	3	3	1	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:51194411A>G	ENST00000382041.3	-	30	6269				NIN_ENST00000245441.5_Intron|NIN_ENST00000530997.2_Intron|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.L2046P|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)						centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CAGTTTTCACAGGTGCCCAAT	0.507			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													122	127	125					14																	51194411		2169	4277	6446	SO:0001627	intron_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.6079-1627T>C	14.37:g.51194411A>G			A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.L2046P	ENST00000382041.3	37	c.6137	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	A	17.17	3.322184	0.60634	.	.	ENSG00000100503	ENST00000453196	T	0.11821	2.74	4.45	3.32	0.38043	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	0.80722	D	1	B	0.28552	0.215	B	0.32022	0.139	T	0.24048	-1.0171	9	0.87932	D	0	.	9.7476	0.40457	0.9172:0.0:0.0828:0.0	.	2046	C9J066	.	P	2046	ENSP00000412391:L2046P	ENSP00000412391:L2046P	L	-	2	0	NIN	50264161	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.441000	0.66569	1.040000	0.40099	0.533000	0.62120	CTG	NIN	-	NULL	ENSG00000100503		0.507	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	-	0	47	0	A	NM_182946		51194411	-1	tier1	-	no_errors	ENST00000453196	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	G	G	51194411	A	G	51194411	1	3	90	0	1	0	0	0	0	0	0	0	10456	188	7	4		4	NIN	14	51194411	Intron	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	4073706	51194411	56155129	234	25969											
TOMM20L	387990	genome.wustl.edu	37	chr14	58863034	58863034	+	Frame_Shift_Del	DEL	A	A	-																															agaaagaagagcagagcctcAaaaggctgaggagcagggca																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:58863034delA	ENST00000360945.2	+	2	197	c.155delA	c.(154-156)caafs	p.Q52fs	RP11-517O13.1_ENST00000556734.1_RNA|RP11-517O13.3_ENST00000556390.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	52					protein targeting (GO:0006605)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)				large_intestine(2)|lung(2)	4						GCAGAGCCTCAAAAGGCTGAG	0.657																																																	0													63	58	60					14																	58863034		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9734.1	14q23.1	2009-01-14			ENSG00000196860	ENSG00000196860			33752	protein-coding gene	gene with protein product	"translocase of outer mitochondrial membrane 20 homolog type I"					15733919	Standard	NM_207377		Approved	UNQ9438	uc001xdr.1	Q6UXN7	OTTHUMG00000140323	ENST00000360945.2:c.155delA	14.37:g.58863034delA	ENSP00000354204:p.Gln52fs		B2RPR0	Frame_Shift_Del	DEL	pfam_MAS20_rcpt-related,superfamily_Tom20_dom,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan,prints_MAS20_rcpt-related	p.K53fs	ENST00000360945.2	37	c.155	CCDS9734.1	14																																																																																			TOMM20L	-	pfam_MAS20_rcpt-related,pirsf_MAS20_rcpt-related,prints_MAS20_rcpt_metazoan	ENSG00000196860		0.657	TOMM20L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM20L	HGNC	protein_coding	OTTHUMT00000276937.1		0	31	0	A	NM_207377		58863034	1	tier1		no_errors	ENST00000360945	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.000	-	-	58863034	A	-	58863034	7	5	90	1	0	1	0	1	0	0	0	0	16402	130	5	0	161	0	TOMM20L	14	58863034	Frame_Shift_Del	DEL	A	TCGA-L5-A8NR-01A-11D-A37C-09	7668623	58863034	48486506	235	25970											
DIO2	1734	genome.wustl.edu	37	chr14	80669483	80669483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagccaaagttgaccactAgtgggcgctcagggctggca	9	7	14	11	1	1	2	1	2	0	0	1	2	1	2	2	3	1	4	2	3	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:80669483A>G	ENST00000557010.1	-	4	756	c.371T>C	c.(370-372)cTa>cCa	p.L124P	DIO2_ENST00000438257.4_Missense_Mutation_p.L124P|DIO2_ENST00000422005.3_Missense_Mutation_p.L124P|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000555750.1_Missense_Mutation_p.L160P	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	124					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GTTGACCACTAGTGGGCGCTC	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50	53	52					14																	80669483		2067	4209	6276	SO:0001583	missense	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.371T>C	14.37:g.80669483A>G	ENSP00000451419:p.Leu124Pro	1200	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	pfam_Iodothyronine_deiodinase	p.L124P	ENST00000557010.1	37	c.371	CCDS45146.1	14	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417742	0.83449	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.63	5.63	0.86233	Thioredoxin-like fold (1);	0.000000	0.50627	D	0.000101	T	0.75517	0.3860	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81918	-0.0713	10	0.87932	D	0	.	15.8957	0.79333	1.0:0.0:0.0:0.0	.	160;124;160	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	P	124;124;124;160	ENSP00000405854:L124P;ENSP00000451419:L124P;ENSP00000411438:L124P;ENSP00000450980:L160P	ENSP00000411438:L124P	L	-	2	0	DIO2	79739236	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.062000	0.93920	2.159000	0.67721	0.473000	0.43528	CTA	DIO2	-	pfam_Iodothyronine_deiodinase	ENSG00000211448		0.557	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO2	HGNC	protein_coding	OTTHUMT00000413428.2	-	0	60	0	A			80669483	-1	tier1	-	no_errors	ENST00000422005	ensembl	human	known	74_37	missense	57.14	21	28	SNP	1.000	G	G	80669483	A	G	80669483	3	3	90	1	0	0	0	0	1	0	0	0	4539	420	15	4	454	4	DIO2	14	80669483	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	21806449	80669483	26680057	236	25971											
KCNK13	56659	genome.wustl.edu	37	chr14	90651285	90651285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggacaatgaattctcaGggggggtgggagcctttgca	8	8	16	9	1	1	1	1	1	1	0	2	3	1	3	2	5	2	1	2	5	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:90651285G>T	ENST00000282146.4	+	2	1606	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	389			G -> A (in dbSNP:rs35909577).		synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G389W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGAATTCTCAGGGGGGGTGGG	0.587																																																	1	Substitution - Missense(1)	lung(1)											17	19	18					14																	90651285		2202	4293	6495	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1165G>T	14.37:g.90651285G>T	ENSP00000282146:p.Gly389Trp		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.G389W	ENST00000282146.4	37	c.1165	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907343	0.52333	.	.	ENSG00000152315	ENST00000282146	T	0.53640	0.61	5.12	5.12	0.69794	.	0.000000	0.42172	D	0.000751	T	0.72534	0.3472	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.77216	-0.2669	10	0.87932	D	0	.	18.9098	0.92479	0.0:0.0:1.0:0.0	.	389	Q9HB14	KCNKD_HUMAN	W	389	ENSP00000282146:G389W	ENSP00000282146:G389W	G	+	1	0	KCNK13	89721038	1.000000	0.71417	0.999000	0.59377	0.009000	0.06853	7.911000	0.87458	2.536000	0.85505	0.655000	0.94253	GGG	KCNK13	-	NULL	ENSG00000152315		0.587	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1		0	29	0	G	NM_022054		90651285	1			no_errors	ENST00000282146	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	90651285	G	T	90651285	3	4	90	1	0	0	0	0	1	0	0	0	8088	1000	35	3	1171	3	KCNK13	14	90651285	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	9981802	90651285	16698255	237	25972											
SLC24A4	123041	genome.wustl.edu	37	chr14	92953034	92953034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctattatcggatacacacttGggatcccggatgtcatcatg	10	12	9	10	2	2	0	2	0	0	0	4	3	3	3	1	3	1	0	1	3	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:92953034G>T	ENST00000532405.1	+	14	1673	c.1447G>T	c.(1447-1449)Ggg>Tgg	p.G483W	SLC24A4_ENST00000351924.5_Missense_Mutation_p.G447W|SLC24A4_ENST00000531433.1_Missense_Mutation_p.G464W|SLC24A4_ENST00000298877.1_Missense_Mutation_p.G466W|SLC24A4_ENST00000393265.2_Missense_Mutation_p.G419W			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	483					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ATACACACTTGGGATCCCGGA	0.468																																					NSCLC(10;315 435 10383 28450 38798)												0													165	115	132					14																	92953034		2203	4300	6503	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1447G>T	14.37:g.92953034G>T	ENSP00000431840:p.Gly483Trp		B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.G483W	ENST00000532405.1	37	c.1447	CCDS9903.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.2|21.2	4.112944|4.112944	0.77210|0.77210	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924|ENST00000525557	T;T;T;T;D|.	0.87256|.	-0.61;-0.38;-0.61;-0.61;-2.23|.	4.84|4.84	4.84|4.84	0.62591|0.62591	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88610|0.88610	0.6483|0.6483	H|H	0.97214|0.97214	3.96|3.96	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.994|.	D;D;D|.	0.97110|.	1.0;1.0;0.972|.	D|D	0.93043|0.93043	0.6459|0.6459	10|5	0.62326|.	D|.	0.03|.	.|.	17.9761|17.9761	0.89128|0.89128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	464;419;483|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	W|L	419;464;483;466;447|348	ENSP00000376948:G419W;ENSP00000433302:G464W;ENSP00000431840:G483W;ENSP00000298877:G466W;ENSP00000337789:G447W|.	ENSP00000298877:G466W|.	G|W	+|+	1|2	0|0	SLC24A4|SLC24A4	92022787|92022787	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.656000|0.656000	0.38851|0.38851	9.572000|9.572000	0.98179|0.98179	2.234000|2.234000	0.73211|0.73211	0.561000|0.561000	0.74099|0.74099	GGG|TGG	SLC24A4	-	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	ENSG00000140090		0.468	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	-	0	82	0	G	NM_153646		92953034	1	tier1	-	no_errors	ENST00000532405	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	92953034	G	T	92953034	3	4	90	1	0	0	0	0	1	0	0	0	14513	1348	47	3	1450	3	SLC24A4	14	92953034	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2301749	92953034	14396506	238	25973											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102493004	102493004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttgatgttccgctggtgCtgtttaatgaagtcctagac	9	14	10	8	1	0	3	0	2	0	1	2	3	2	3	2	1	2	4	2	1	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr14:102493004C>T	ENST00000360184.4	+	44	8895	c.8731C>T	c.(8731-8733)Ctg>Ttg	p.L2911L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2911	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCCGCTGGTGCTGTTTAATGA	0.443																																																	0													116	108	111					14																	102493004		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8731C>T	14.37:g.102493004C>T			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L2911	ENST00000360184.4	37	c.8731	CCDS9966.1	14																																																																																			DYNC1H1	-	superfamily_P-loop_NTPase	ENSG00000197102		0.443	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	77	0	C	NM_001376		102493004	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	102493004	C	T	102493004	2	4	90	1	0	0	0	0	0	0	0	1	4855	796	28	3		3	DYNC1H1	14	102493004	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	9539970	102493004	4856536	239	25974											
GANC	2595	genome.wustl.edu	37	chr15	42622792	42622792	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatggctactgcagaaGgactgataaaacgatctaaa	18	7	9	7	1	1	2	0	1	1	1	1	4	1	3	0	2	4	3	0	2	7	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:42622792G>T	ENST00000318010.8	+	15	1903	c.1663G>T	c.(1663-1665)Gga>Tga	p.G555*		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	555					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TACTGCAGAAGGACTGATAAA	0.368																																																	0													168	143	152					15																	42622792		2203	4299	6502	SO:0001587	stop_gained	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1663G>T	15.37:g.42622792G>T	ENSP00000326227:p.Gly555*		Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom	p.G555*	ENST00000318010.8	37	c.1663	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.806727	0.98960	.	.	ENSG00000214013	ENST00000318010	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.246	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	555	.	ENSP00000326227:G555X	G	+	1	0	GANC	40410084	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.507000	0.97996	2.941000	0.99782	0.655000	0.94253	GGA	GANC	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000214013		0.368	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	HGNC	protein_coding	OTTHUMT00000252887.2	-	0	40	0	G	NM_198141		42622792	1	tier1	-	no_errors	ENST00000318010	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	1.000	T	T	42622792	G	T	42622792	4	4	90	1	0	0	0	0	0	1	0	0	6259	1001	35	3	1721	3	GANC	15	42622792	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		42622792	59908600	240	25975											
SHC4	399694	genome.wustl.edu	37	chr15	49127155	49127155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacagctgctgcttaatGtgtggcaaagaatgtgagct	10	11	11	9	0	0	2	0	1	0	1	1	2	1	2	1	1	4	5	1	1	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:49127155G>T	ENST00000332408.4	-	11	1976	c.1548C>A	c.(1546-1548)caC>caA	p.H516Q	SHC4_ENST00000396535.3_Missense_Mutation_p.H273Q|SHC4_ENST00000537958.1_Missense_Mutation_p.H230Q	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	516	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCTGCTTAATGTGTGGCAAAG	0.527																																																	0													64	53	57					15																	49127155		2197	4295	6492	SO:0001583	missense	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"SH2 domain containing"	16743	protein-coding gene	gene with protein product	"rai-like protein"						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1548C>A	15.37:g.49127155G>T	ENSP00000329668:p.His516Gln		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.H516Q	ENST00000332408.4	37	c.1548	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	G	1.291	-0.607630	0.03717	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.62498	0.02;0.02;0.02	4.92	-2.38	0.06622	.	0.396530	0.25236	N	0.032128	T	0.32376	0.0827	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.07328	-1.0778	10	0.15066	T	0.55	-17.3477	1.2168	0.01916	0.302:0.0951:0.3372:0.2658	.	273;516	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	Q	516;273;230	ENSP00000329668:H516Q;ENSP00000379786:H273Q;ENSP00000443300:H230Q	ENSP00000329668:H516Q	H	-	3	2	SHC4	46914447	0.504000	0.26123	0.447000	0.26932	0.377000	0.30045	-0.384000	0.07389	-0.213000	0.10094	-0.282000	0.10007	CAC	SHC4	-	NULL	ENSG00000185634		0.527	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	-	0	39	0	G	NM_203349		49127155	-1	tier1	-	no_errors	ENST00000332408	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.032	T	T	49127155	G	T	49127155	3	4	90	1	0	0	0	0	1	0	0	0	14318	1368	48	3	352	3	SHC4	15	49127155	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	6504363	49127155	53404237	241	25976											
NOX5	79400	genome.wustl.edu	37	chr15	69341356	69341356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagtggtttgtgagcctgCtgactaaactggagatggac	9	11	14	7	1	0	3	0	2	0	1	1	6	0	4	1	3	3	2	1	3	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:69341356C>T	ENST00000388866.3	+	14	1998	c.1957C>T	c.(1957-1959)Ctg>Ttg	p.L653L	NOX5_ENST00000448182.3_Silent_p.L607L|NOX5_ENST00000455873.3_Silent_p.L618L|NOX5_ENST00000530406.2_Silent_p.L625L|NOX5_ENST00000525163.1_3'UTR|NOX5_ENST00000260364.5_Silent_p.L635L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	653					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGTGAGCCTGCTGACTAAACT	0.572																																																	0													62	56	58					15																	69341356		2200	4298	6498	SO:0001819	synonymous_variant	0			AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"EF-hand domain containing"	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1957C>T	15.37:g.69341356C>T			B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom	p.L653	ENST00000388866.3	37	c.1957	CCDS32276.2	15																																																																																			NOX5	-	pfam_Fe_red_NAD-bd_6	ENSG00000255346		0.572	NOX5-003	KNOWN	basic|CCDS	protein_coding	NOX5	HGNC	protein_coding	OTTHUMT00000257124.2	-	0	40	0	C	NM_024505		69341356	1	tier1	-	no_errors	ENST00000388866	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T	T	69341356	C	T	69341356	2	4	90	1	0	0	0	0	0	0	0	1	10598	796	28	3		3	NOX5	15	69341356	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	20214201	69341356	33190036	242	25977											
NPTN	27020	genome.wustl.edu	37	chr15	73889549	73889549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtttacggtgacacggcGcttccgagcaccgtcccaca	7	8	12	14	5	0	1	0	1	0	0	2	2	2	1	3	3	2	3	3	3	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:73889549G>A	ENST00000345330.4	-	2	450	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	NPTN_ENST00000563691.1_Missense_Mutation_p.R85C|NPTN_ENST00000351217.6_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.R85C|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.R85C|NPTN_ENST00000562924.1_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	85	Ig-like 1.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						GTGACACGGCGCTTCCGAGCA	0.612																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)												0													120	97	105					15																	73889549		2198	4297	6495	SO:0001583	missense	0			AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17867	protein-coding gene	gene with protein product		612820	"stromal cell derived factor receptor 1"	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.253C>T	15.37:g.73889549G>A	ENSP00000290401:p.Arg85Cys		B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R85C	ENST00000345330.4	37	c.253	CCDS10249.1	15	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497411	0.85069	.	.	ENSG00000156642	ENST00000345330;ENST00000545878;ENST00000287226	T;T;T	0.66638	-0.22;-0.22;-0.22	5.61	5.61	0.85477	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.942;0.966	D	0.84312	0.0511	10	0.49607	T	0.09	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	85;85	Q9Y639-5;Q9Y639	.;NPTN_HUMAN	C	85	ENSP00000290401:R85C;ENSP00000444548:R85C;ENSP00000287226:R85C	ENSP00000287226:R85C	R	-	1	0	NPTN	71676602	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.695000	0.98691	2.793000	0.96121	0.655000	0.94253	CGC	NPTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000156642		0.612	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	HGNC	protein_coding	OTTHUMT00000268980.1	-	0	48	0	G	NM_012428		73889549	-1	tier1	-	no_errors	ENST00000345330	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A	A	73889549	G	A	73889549	3	1	90	1	0	0	0	0	1	0	0	0	10640	1087	38	1	971	1	NPTN	15	73889549	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	4548193	73889549	28641843	243	25978											
SNUPN	10073	genome.wustl.edu	37	chr15	75890870	75890870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccataatctgctggagctgGtgcccagcatagtctggctt	7	12	11	11	0	2	0	0	0	2	0	3	1	3	1	2	3	4	4	2	3	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:75890870G>T	ENST00000564644.1	-	10	1490	c.912C>A	c.(910-912)caC>caA	p.H304Q	SNUPN_ENST00000371091.5_Missense_Mutation_p.H346Q|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000308588.5_Missense_Mutation_p.H304Q|SNUPN_ENST00000567134.1_Missense_Mutation_p.H304Q|SNUPN_ENST00000564675.1_Missense_Mutation_p.H304Q			O95149	SPN1_HUMAN	snurportin 1	304	Necessary for binding to the m3G-cap structure.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GCTGGAGCTGGTGCCCAGCAT	0.572																																																	0													128	131	130					15																	75890870		2197	4294	6491	SO:0001583	missense	0			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"RNA, U transporter 1"	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.912C>A	15.37:g.75890870G>T	ENSP00000454852:p.His304Gln		A6NE34|A8K0B0|D3DW76	Missense_Mutation	SNP	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.H346Q	ENST00000564644.1	37	c.1038	CCDS10281.1	15	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594999	0.46318	.	.	ENSG00000169371	ENST00000308588;ENST00000371091	T;T	0.62639	0.01;0.01	5.9	-1.41	0.08941	.	0.390014	0.33895	N	0.004451	T	0.35422	0.0931	N	0.17723	0.515	0.39028	D	0.959885	B;B	0.20550	0.046;0.011	B;B	0.12837	0.008;0.005	T	0.08534	-1.0717	10	0.12103	T	0.63	-8.8597	6.5098	0.22216	0.1363:0.4815:0.2891:0.093	.	346;304	C9K0X5;O95149	.;SPN1_HUMAN	Q	304;346	ENSP00000309831:H304Q;ENSP00000360132:H346Q	ENSP00000309831:H304Q	H	-	3	2	SNUPN	73677925	0.682000	0.27624	0.989000	0.46669	0.990000	0.78478	-0.109000	0.10840	0.087000	0.17167	0.555000	0.69702	CAC	SNUPN	-	pirsf_Snurportin-1	ENSG00000169371		0.572	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1	-	0	68	0	G	NM_005701		75890870	-1	tier1	-	no_errors	ENST00000371091	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.901	T	T	75890870	G	T	75890870	3	4	90	1	0	0	0	0	1	0	0	0	14922	1252	44	3	174	3	SNUPN	15	75890870	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2001321	75890870	26640522	244	25979											
LINGO1	84894	genome.wustl.edu	37	chr15	77906450	77906450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgcctgcgtccgactttCggggcacatactcgatctcg	6	11	11	13	5	1	1	0	1	1	0	5	3	2	1	2	2	3	1	2	2	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:77906450C>T	ENST00000355300.6	-	2	1973	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.R594Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	600					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GTCCGACTTTCGGGGCACATA	0.642																																																	0													63	66	65					15																	77906450		2066	4171	6237	SO:0001583	missense	0			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"Immunoglobulin superfamily / I-set domain containing"	21205	protein-coding gene	gene with protein product		609791	"leucine rich repeat neuronal 6A"	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1799G>A	15.37:g.77906450C>T	ENSP00000347451:p.Arg600Gln		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R600Q	ENST00000355300.6	37	c.1799	CCDS45313.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392627	0.83011	.	.	ENSG00000169783	ENST00000355300	T	0.62105	0.05	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.82776	-0.0290	10	0.87932	D	0	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	600	Q96FE5	LIGO1_HUMAN	Q	600	ENSP00000347451:R600Q	ENSP00000347451:R600Q	R	-	2	0	LINGO1	75693505	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	2.509000	0.84616	0.561000	0.74099	CGA	LINGO1	-	NULL	ENSG00000169783		0.642	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO1	HGNC	protein_coding	OTTHUMT00000419546.1		0	37	0	C	NM_032808		77906450	-1			no_errors	ENST00000355300	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	77906450	C	T	77906450	3	4	90	1	0	0	0	0	1	0	0	0	8844	884	31	1	67	1	LINGO1	15	77906450	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2015580	77906450	24624942	245	25980											
IREB2	3658	genome.wustl.edu	37	chr15	78758680	78758680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaaagctctctccagttAaagtgcagcctaagaagctt	13	9	9	10	0	1	1	0	0	1	1	3	2	2	2	2	1	4	4	2	1	5	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:78758680A>G	ENST00000258886.8	+	5	627	c.478A>G	c.(478-480)Aaa>Gaa	p.K160E	IREB2_ENST00000559427.1_3'UTR|IREB2_ENST00000560440.1_Missense_Mutation_p.K160E	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	160					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTCTCCAGTTAAAGTGCAGCC	0.468																																					NSCLC(200;764 2208 35157 49871 50830)												0													73	71	72					15																	78758680		2196	4293	6489	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.478A>G	15.37:g.78758680A>G	ENSP00000258886:p.Lys160Glu		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.K160E	ENST00000258886.8	37	c.478	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135452	0.37728	.	.	ENSG00000136381	ENST00000258886	T	0.19669	2.13	6.08	0.671	0.17929	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.519358	0.21986	N	0.066222	T	0.15522	0.0374	L	0.27053	0.805	0.09310	N	1	B;B	0.20368	0.044;0.012	B;B	0.15870	0.014;0.014	T	0.19484	-1.0304	10	0.62326	D	0.03	.	14.7174	0.69280	0.5241:0.4759:0.0:0.0	.	160;160	P48200;Q8WVK6	IREB2_HUMAN;.	E	160	ENSP00000258886:K160E	ENSP00000258886:K160E	K	+	1	0	IREB2	76545735	0.053000	0.20554	0.000000	0.03702	0.904000	0.53231	0.649000	0.24843	-0.123000	0.11745	0.482000	0.46254	AAA	IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba	ENSG00000136381		0.468	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0	84	0	A	NM_004136		78758680	1	tier1	-	no_errors	ENST00000258886	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.004	G	G	78758680	A	G	78758680	3	3	90	1	0	0	0	0	1	0	0	0	7853	363	13	4	496	4	IREB2	15	78758680	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	852230	78758680	23772712	246	25981											
RASGRF1	5923	genome.wustl.edu	37	chr15	79382679	79382679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgagctcgagtcgctctcGaagtagaagagcaggttctg	9	8	14	10	5	2	2	0	0	2	2	5	5	2	2	0	1	2	5	0	1	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:79382679G>A	ENST00000419573.3	-	1	436	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RASGRF1_ENST00000558480.2_Silent_p.F54F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	54	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTCGCTCTCGAAGTAGAAGA	0.647																																																	0													102	79	87					15																	79382679		2196	4293	6489	SO:0001819	synonymous_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.162C>T	15.37:g.79382679G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F54	ENST00000419573.3	37	c.162	CCDS10309.1	15																																																																																			RASGRF1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.647	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	56	0	G	NM_002891		79382679	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	A	A	79382679	G	A	79382679	2	1	90	1	0	0	0	0	0	0	0	1	13117	1049	37	1		1	RASGRF1	15	79382679	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	623999	79382679	23148713	247	25982											
ARNT2	9915	genome.wustl.edu	37	chr15	80843542	80843542	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtatttcccatttcaggaAtgaccatacctgaagaagac	14	10	8	9	0	1	4	1	2	0	2	2	5	2	5	3	2	1	1	3	2	5	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:80843542A>G	ENST00000303329.4	+	9	1045	c.880A>G	c.(880-882)Atg>Gtg	p.M294V	ARNT2_ENST00000533983.1_Missense_Mutation_p.M283V|ARNT2_ENST00000527771.1_Missense_Mutation_p.M283V	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	294					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CATTTCAGGAATGACCATACC	0.403																																																	0													137	126	130					15																	80843542		2203	4300	6503	SO:0001583	missense	0			AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"Basic helix-loop-helix proteins"	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.880A>G	15.37:g.80843542A>G	ENSP00000307479:p.Met294Val		B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS	p.M294V	ENST00000303329.4	37	c.880	CCDS32307.1	15	.	.	.	.	.	.	.	.	.	.	A	1.478	-0.558088	0.03967	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.05258	3.47	4.9	4.9	0.64082	.	0.274240	0.40064	N	0.001199	T	0.02610	0.0079	N	0.02674	-0.535	0.80722	D	1	B	0.09022	0.002	B	0.01281	0.0	T	0.32161	-0.9917	10	0.02654	T	1	.	14.5465	0.68035	1.0:0.0:0.0:0.0	.	294	Q9HBZ2	ARNT2_HUMAN	V	283;294;294	ENSP00000307479:M294V	ENSP00000307479:M294V	M	+	1	0	ARNT2	78630597	1.000000	0.71417	0.998000	0.56505	0.454000	0.32378	6.358000	0.73055	1.837000	0.53436	0.533000	0.62120	ATG	ARNT2	-	prints_Nuc_translocat	ENSG00000172379		0.403	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARNT2	HGNC	protein_coding	OTTHUMT00000384389.2	-	0	112	0	A			80843542	1	tier1	-	no_errors	ENST00000303329	ensembl	human	known	74_37	missense	25.97	57	20	SNP	1.000	G	G	80843542	A	G	80843542	3	3	90	1	0	0	0	0	1	0	0	0	967	101	4	4	914	4	ARNT2	15	80843542	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	1460863	80843542	21687850	248	25983											
ACAN	176	genome.wustl.edu	37	chr15	89395210	89395210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcaccaccgagccagaaAaccagacagaatgggaacca	17	3	9	12	1	1	3	1	0	0	3	1	5	1	4	5	1	3	1	5	1	4	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:89395210A>G	ENST00000561243.1	+	10	2212	c.2212A>G	c.(2212-2214)Aac>Gac	p.N738D	ACAN_ENST00000352105.7_Missense_Mutation_p.N738D|ACAN_ENST00000559004.1_Missense_Mutation_p.N738D|ACAN_ENST00000439576.2_Missense_Mutation_p.N738D			P16112	PGCA_HUMAN	aggrecan	737	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGCCAGAAAACCAGACAGA	0.582																																																	0													33	41	39					15																	89395210		1997	4170	6167	SO:0001583	missense	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2212A>G	15.37:g.89395210A>G	ENSP00000453342:p.Asn738Asp		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.N738D	ENST00000561243.1	37	c.2212	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	A	15.80	2.940069	0.52972	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02369	4.56;4.32	5.77	5.77	0.91146	.	0.462300	0.16129	N	0.228263	T	0.05914	0.0154	M	0.63843	1.955	0.29992	N	0.816829	P;P	0.46395	0.877;0.877	B;B	0.43194	0.411;0.411	T	0.21177	-1.0253	10	0.23302	T	0.38	-11.4568	14.9055	0.70715	1.0:0.0:0.0:0.0	.	738;738	E7ENV9;E7EX88	.;.	D	738	ENSP00000387356:N738D;ENSP00000341615:N738D	ENSP00000268134:N738D	N	+	1	0	ACAN	87196214	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	5.769000	0.68865	2.207000	0.71202	0.418000	0.28097	AAC	ACAN	-	superfamily_C-type_lectin_fold	ENSG00000157766		0.582	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	-	0	73	0	A	NM_001135		89395210	1	tier1	-	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	G	G	89395210	A	G	89395210	3	3	90	1	0	0	0	0	1	0	0	0	117	14	1	4	2250	4	ACAN	15	89395210	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	8551668	89395210	13136182	249	25984											
HAPLN3	145864	genome.wustl.edu	37	chr15	89422387	89422387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccctcctcccaggcccGgaagagctgctcaaaggagg	9	4	13	15	1	1	1	1	0	0	1	3	3	3	3	4	5	2	2	4	5	2	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr15:89422387G>A	ENST00000359595.3	-	4	821	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R265W	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	203	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	TCCCAGGCCCGGAAGAGCTGC	0.672											OREG0023445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													34	38	37					15																	89422387		2200	4299	6499	SO:0001583	missense	0			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"Immunoglobulin superfamily / V-set domain containing"	21446	protein-coding gene	gene with protein product			"extracellular link domain containing, 1"	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.607C>T	15.37:g.89422387G>A	ENSP00000352606:p.Arg203Trp	1267	A8K7P0	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.R203W	ENST00000359595.3	37	c.607	CCDS10346.1	15	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715298	0.68844	.	.	ENSG00000140511	ENST00000359595	T	0.09817	2.94	4.36	2.06	0.26882	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.597953	0.16984	N	0.191571	T	0.24928	0.0605	M	0.67953	2.075	0.32895	D	0.512446	D;D	0.76494	0.999;0.999	D;D	0.70716	0.97;0.97	T	0.26052	-1.0114	10	0.72032	D	0.01	-23.1519	6.5602	0.22481	0.1021:0.0:0.6131:0.2847	.	203;203	A8K7T8;Q96S86	.;HPLN3_HUMAN	W	203	ENSP00000352606:R203W	ENSP00000352606:R203W	R	-	1	2	HAPLN3	87223391	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	0.301000	0.19174	0.940000	0.37473	0.655000	0.94253	CGG	HAPLN3	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000140511		0.672	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN3	HGNC	protein_coding	OTTHUMT00000309070.1	-	0	125	0	G	NM_178232		89422387	-1	tier1	-	no_errors	ENST00000359595	ensembl	human	known	74_37	missense	29.79	66	28	SNP	0.987	A	A	89422387	G	A	89422387	3	1	90	1	0	0	0	0	1	0	0	0	6983	1115	39	1	483	1	HAPLN3	15	89422387	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	27177	89422387	13109005	250	25985											
PIGQ	9091	genome.wustl.edu	37	chr16	633346	633346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcactgccccatgccCaccctgtgtacccaggtcca	8	6	8	19	0	0	1	0	0	0	1	1	1	1	1	7	1	4	2	7	1	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:633346C>T	ENST00000026218.5	+	10	2083	c.1995C>T	c.(1993-1995)ccC>ccT	p.P665P	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	665					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCCCATGCCCACCCTGTGTA	0.682																																																	0													50	57	54					16																	633346		2201	4298	6499	SO:0001819	synonymous_variant	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1995C>T	16.37:g.633346C>T			A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	pfam_GlcNAc_Gpi1	p.P665	ENST00000026218.5	37	c.1995	CCDS10411.1	16																																																																																			PIGQ	-	NULL	ENSG00000007541		0.682	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	-	0	109	0	C	NM_004204		633346	1	tier1	-	no_errors	ENST00000026218	ensembl	human	known	74_37	silent	19.77	69	17	SNP	0.000	T	T	633346	C	T	633346	2	4	90	1	0	0	0	0	0	0	0	1	11935	581	21	3		3	PIGQ	16	633346	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		633346	89721407	251	25986											
CRAMP1L	57585	genome.wustl.edu	37	chr16	1723954	1723954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctcggttcaatgacctgGcccaagagctgtccatcgct	7	12	9	13	2	2	2	1	1	1	1	5	2	3	2	3	2	1	3	3	2	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:1723954G>T	ENST00000397412.3	+	21	3817	c.3718G>T	c.(3718-3720)Gcc>Tcc	p.A1240S	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.A615S|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.A1237S|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.A1240S			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1240	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAATGACCTGGCCCAAGAGCT	0.552																																																	0													96	98	98					16																	1723954		2078	4229	6307	SO:0001583	missense	0			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"Crm (Cramped Drosophila)-like"				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3718G>T	16.37:g.1723954G>T	ENSP00000380559:p.Ala1240Ser		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.A1240S	ENST00000397412.3	37	c.3718	CCDS10440.2	16	.	.	.	.	.	.	.	.	.	.	G	36	5.856060	0.97030	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.74131	-0.3764	9	0.66056	D	0.02	-37.2759	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1240	Q96RY5	CRML_HUMAN	S	1240;1240;1237;615	.	ENSP00000262317:A615S	A	+	1	0	CRAMP1L	1663955	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.140000	0.94607	2.884000	0.98904	0.655000	0.94253	GCC	CRAMP1L	-	NULL	ENSG00000007545		0.552	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	-	0	61	0	G			1723954	1	tier1	-	no_errors	ENST00000293925	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	T	T	1723954	G	T	1723954	3	4	90	1	0	0	0	0	1	0	0	0	3853	1203	42	3	3796	3	CRAMP1L	16	1723954	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1090608	1723954	88630799	252	25987											
PKMYT1	9088	genome.wustl.edu	37	chr16	3025810	3025810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccgtcctccttggagcGcacctggaagggaggtggta	6	7	16	12	3	0	0	0	0	0	0	2	3	2	3	5	6	1	2	5	6	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:3025810G>T	ENST00000262300.8	-	4	890	c.382C>A	c.(382-384)Cgc>Agc	p.R128S	PKMYT1_ENST00000431515.2_Missense_Mutation_p.R128S|PKMYT1_ENST00000574385.1_Missense_Mutation_p.R119S|PKMYT1_ENST00000573944.1_Missense_Mutation_p.R119S|PKMYT1_ENST00000440027.2_Missense_Mutation_p.R128S|PKMYT1_ENST00000574730.1_Missense_Mutation_p.R59S	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCCTTGGAGCGCACCTGGAAG	0.627																																																	0													30	30	30					16																	3025810		2014	3999	6013	SO:0001583	missense	0			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase", "protein phosphatase 1, regulatory subunit 126"	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.382C>A	16.37:g.3025810G>T	ENSP00000262300:p.Arg128Ser		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom	p.R128S	ENST00000262300.8	37	c.382	CCDS10486.1	16	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127751	0.77549	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.218706	0.43110	D	0.000602	T	0.38081	0.1027	L	0.28740	0.885	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.994;0.996	P;D;P;P	0.64877	0.906;0.93;0.905;0.848	T	0.03157	-1.1066	10	0.37606	T	0.19	-30.915	17.2983	0.87175	0.0:0.0:1.0:0.0	.	119;59;128;128	A6NHV6;B4DXD4;Q99640;F8W164	.;.;PMYT1_HUMAN;.	S	128;128;128;128;119	ENSP00000392855:R128S;ENSP00000262300:R128S;ENSP00000397739:R128S;ENSP00000371675:R119S	ENSP00000262300:R128S	R	-	1	0	PKMYT1	2965811	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.384000	0.73177	2.676000	0.91093	0.655000	0.94253	CGC	PKMYT1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom	ENSG00000127564		0.627	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250963.2		0	93	0	G	NM_004203		3025810	-1			no_errors	ENST00000262300	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	3025810	G	T	3025810	3	4	90	1	0	0	0	0	1	0	0	0	12017	1087	38	2	1179	2	PKMYT1	16	3025810	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1301856	3025810	87328943	253	25988											
SEC14L5	9717	genome.wustl.edu	37	chr16	5057472	5057472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagccagcgtgctccgCggagccccccacgaggtgcc	6	5	12	18	4	1	0	1	0	0	0	2	2	2	1	6	2	5	1	6	2	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:5057472C>T	ENST00000251170.7	+	13	1737	c.1557C>T	c.(1555-1557)cgC>cgT	p.R519R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	519	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCGTGCTCCGCGGAGCCCCCC	0.637																																																	0													25	28	27					16																	5057472		1942	4135	6077	SO:0001819	synonymous_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1557C>T	16.37:g.5057472C>T				Silent	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.R519	ENST00000251170.7	37	c.1557	CCDS45403.1	16																																																																																			SEC14L5	-	superfamily_GOLD,pfscan_GOLD	ENSG00000103184		0.637	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	-	0	39	0	C			5057472	1	tier1	-	no_errors	ENST00000251170	ensembl	human	known	74_37	silent	40.74	16	11	SNP	0.406	T	T	5057472	C	T	5057472	2	4	90	1	0	0	0	0	0	0	0	1	14030	755	27	1		1	SEC14L5	16	5057472	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2031662	5057472	85297281	254	25989											
A2BP1	54715	genome.wustl.edu	37	chr16	7647385	7647385	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacataggtaaataatgccAcagcacgtgtaatgacaaat	17	9	8	7	1	0	1	0	1	0	0	0	1	0	1	1	1	3	4	1	1	7	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:7647385A>T	ENST00000550418.1	+	9	1562	c.574A>T	c.(574-576)Aca>Tca	p.T192S	RBFOX1_ENST00000535565.2_Missense_Mutation_p.T149S|RBFOX1_ENST00000436368.2_Missense_Mutation_p.T212S|RBFOX1_ENST00000547372.1_Missense_Mutation_p.T235S|RBFOX1_ENST00000552089.1_Missense_Mutation_p.T209S|RBFOX1_ENST00000422070.4_Missense_Mutation_p.T235S|RBFOX1_ENST00000355637.4_Missense_Mutation_p.T212S|RBFOX1_ENST00000340209.4_Missense_Mutation_p.T197S|RBFOX1_ENST00000547338.1_Missense_Mutation_p.T192S|RBFOX1_ENST00000311745.5_Missense_Mutation_p.T212S|RBFOX1_ENST00000553186.1_Missense_Mutation_p.T192S	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	192	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AAATAATGCCACAGCACGTGT	0.363																																					Ovarian(157;934 2567 15163 39509)												0													104	96	99					16																	7647385		2197	4300	6497	SO:0001583	missense	0			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"RNA binding motif (RRM) containing"	18222	protein-coding gene	gene with protein product	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.574A>T	16.37:g.7647385A>T	ENSP00000450031:p.Thr192Ser		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	p.T235S	ENST00000550418.1	37	c.703	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	A	19.35	3.811003	0.70797	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3;1.3	5.96	5.96	0.96718	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	N	0.19112	0.55	0.80722	D	1	B;D;P;D;P;D;P;P;P	0.76494	0.198;0.999;0.58;0.999;0.863;0.992;0.858;0.765;0.725	B;D;P;D;P;D;P;B;P	0.80764	0.171;0.994;0.566;0.994;0.771;0.984;0.535;0.418;0.542	T	0.51980	-0.8636	10	0.87932	D	0	-7.2485	16.4484	0.83959	1.0:0.0:0.0:0.0	.	212;149;235;212;212;212;192;192;235	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	S	191;192;192;235;235;149;209;192;192;212;212;212;212;197	ENSP00000450402:T191S;ENSP00000450031:T192S;ENSP00000447753:T192S;ENSP00000446842:T235S;ENSP00000391269:T235S;ENSP00000448496:T209S;ENSP00000447281:T192S;ENSP00000447717:T192S;ENSP00000402745:T212S;ENSP00000309117:T212S;ENSP00000347855:T212S;ENSP00000344196:T197S	ENSP00000309117:T212S	T	+	1	0	RBFOX1	7587386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.108000	0.94275	2.285000	0.76669	0.533000	0.62120	ACA	RBFOX1	-	pirsf_RNA-bd_Fox-1,pfscan_RRM_dom	ENSG00000078328		0.363	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2		0	28	0	A	NM_145891		7647385	1			no_errors	ENST00000547372	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	7647385	A	T	7647385	3	4	90	1	0	0	0	0	1	0	0	0	3	159	6	5	687	5	A2BP1	16	7647385	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	2589913	7647385	82707368	255	25990											
ATF7IP2	80063	genome.wustl.edu	37	chr16	10534309	10534309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaacatgttatccagtaatgGagcctctaaggtttgtataa	14	13	8	6	0	1	0	0	0	1	0	2	1	2	1	2	2	2	4	2	2	6	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:10534309G>A	ENST00000396560.2	+	6	1411	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.G395E|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.G395E|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.G395E	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TCCAGTAATGGAGCCTCTAAG	0.303																																																	0													43	47	45					16																	10534309		2194	4298	6492	SO:0001583	missense	0			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1184G>A	16.37:g.10534309G>A	ENSP00000379808:p.Gly395Glu		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.G395E	ENST00000396560.2	37	c.1184	CCDS10540.1	16	.	.	.	.	.	.	.	.	.	.	G	0	-2.705102	0.00096	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	4.62	-4.85	0.03142	.	1.541730	0.03814	N	0.266511	T	0.27933	0.0688	N	0.22421	0.69	0.09310	N	1	B;B	0.25169	0.119;0.103	B;B	0.26416	0.069;0.037	T	0.33523	-0.9865	10	0.54805	T	0.06	4.3421	6.9069	0.24313	0.0:0.3026:0.1324:0.565	.	395;395	Q5U623-2;Q5U623	.;MCAF2_HUMAN	E	395	ENSP00000379807:G395E;ENSP00000379808:G395E;ENSP00000348799:G395E;ENSP00000322811:G395E	ENSP00000322811:G395E	G	+	2	0	ATF7IP2	10441810	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.714000	0.05002	-0.872000	0.04037	-0.340000	0.08031	GGA	ATF7IP2	-	NULL	ENSG00000166669		0.303	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1		0	96	0	G	NM_024997		10534309	1			no_errors	ENST00000356427	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.000	A	A	10534309	G	A	10534309	3	1	90	1	0	0	0	0	1	0	0	0	1089	1174	41	3	1198	3	ATF7IP2	16	10534309	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2886924	10534309	79820444	256	25991											
XYLT1	64131	genome.wustl.edu	37	chr16	17451880	17451880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatacttacctgagtctccaGggtgatgagcggacttgggt	8	11	14	8	1	1	3	0	3	1	0	2	5	1	4	2	3	3	0	2	3	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:17451880G>T	ENST00000261381.6	-	2	475	c.391C>A	c.(391-393)Ctg>Atg	p.L131M	XYLT1_ENST00000568226.1_5'UTR	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	131					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGAGTCTCCAGGGTGATGAGC	0.478																																																	0													130	106	114					16																	17451880		2197	4300	6497	SO:0001583	missense	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.391C>A	16.37:g.17451880G>T	ENSP00000261381:p.Leu131Met		Q9H1B6	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.L131M	ENST00000261381.6	37	c.391	CCDS10569.1	16	.	.	.	.	.	.	.	.	.	.	G	10.85	1.465596	0.26335	.	.	ENSG00000103489	ENST00000261381	T	0.04654	3.58	5.56	4.61	0.57282	.	0.749808	0.12530	N	0.460870	T	0.07863	0.0197	N	0.08118	0	0.29375	N	0.863714	D	0.71674	0.998	D	0.80764	0.994	T	0.34254	-0.9836	10	0.41790	T	0.15	-18.3416	8.4933	0.33112	0.1751:0.0:0.8249:0.0	.	131	Q86Y38	XYLT1_HUMAN	M	131	ENSP00000261381:L131M	ENSP00000261381:L131M	L	-	1	2	XYLT1	17359381	1.000000	0.71417	0.999000	0.59377	0.584000	0.36387	0.767000	0.26575	1.346000	0.45694	0.655000	0.94253	CTG	XYLT1	-	NULL	ENSG00000103489		0.478	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	-	0	85	0	G	NM_022166		17451880	-1	tier1	-	no_errors	ENST00000261381	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	17451880	G	T	17451880	3	4	90	1	0	0	0	0	1	0	0	0	17512	991	35	3	2532	3	XYLT1	16	17451880	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	6917571	17451880	72902873	257	25992											
C16orf88	400506	genome.wustl.edu	37	chr16	19721832	19721832	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctagccccaaacttaccGtccacttcctggtttcagaa	9	10	6	16	1	1	1	1	0	0	1	3	1	3	1	6	1	3	1	6	1	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:19721832G>A	ENST00000219837.7	-	4	1142	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	KNOP1_ENST00000568230.1_Splice_Site_p.T34M|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	355	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T355M(1)									CAAACTTACCGTCCACTTCCT	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											113	132	126					16																	19721832		2131	4233	6364	SO:0001630	splice_region_variant	0			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"family with sequence similarity 191, member A", "testis-specific gene 118"		"chromosome 16 open reading frame 88"	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.1065+1C>T	16.37:g.19721832G>A			O43328|Q5FWF3	Missense_Mutation	SNP	NULL	p.T355M	ENST00000219837.7	37	c.1064	CCDS42127.1	16	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982122	0.18889	.	.	ENSG00000103550	ENST00000219837	T	0.26223	1.75	4.36	-1.68	0.08212	.	.	.	.	.	T	0.12774	0.0310	L	0.28740	0.885	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.32188	-0.9916	8	.	.	.	-5.9576	0.4677	0.00526	0.3197:0.1266:0.2954:0.2583	.	355	Q1ED39	CP088_HUMAN	M	355	ENSP00000219837:T355M	.	T	-	2	0	C16orf88	19629333	0.001000	0.12720	0.031000	0.17742	0.072000	0.16883	-0.503000	0.06383	-0.127000	0.11661	-0.670000	0.03821	ACG	KNOP1	-	NULL	ENSG00000103550		0.577	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNOP1	HGNC	protein_coding	OTTHUMT00000435993.2	-	0	76	0	G	NM_001012991	Missense_Mutation	19721832	-1	tier1	-	no_errors	ENST00000219837	ensembl	human	known	74_37	missense	45.45	23	20	SNP	0.000	A	A	19721832	G	A	19721832	5	1	90	1	0	0	0	0	0	0	1	0	1846	1159	40	1	320	1	C16orf88	16	19721832	Splice_Site	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2269952	19721832	70632921	258	25993											
KIAA0556	23247	genome.wustl.edu	37	chr16	27752022	27752022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagggtcctggagagaccGaggccagggataaaggccta	11	5	17	8	1	0	2	0	1	0	1	1	6	1	4	4	5	0	0	4	5	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:27752022G>A	ENST00000261588.4	+	15	2423	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	802						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAGAGACCGAGGCCAGGGA	0.622																																																	0													51	55	54					16																	27752022		2197	4300	6497	SO:0001583	missense	0			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2404G>A	16.37:g.27752022G>A	ENSP00000261588:p.Glu802Lys		A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.E802K	ENST00000261588.4	37	c.2404	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	8.474	0.858128	0.17178	.	.	ENSG00000047578	ENST00000261588	T	0.10005	2.92	4.94	1.9	0.25705	.	0.562283	0.18681	N	0.134180	T	0.06325	0.0163	L	0.27053	0.805	0.21604	N	0.999626	B	0.18013	0.025	B	0.09377	0.004	T	0.44236	-0.9341	10	0.10902	T	0.67	-22.8321	8.3912	0.32528	0.2494:0.0:0.7506:0.0	.	802	O60303	K0556_HUMAN	K	802	ENSP00000261588:E802K	ENSP00000261588:E802K	E	+	1	0	KIAA0556	27659523	0.001000	0.12720	0.006000	0.13384	0.019000	0.09904	0.852000	0.27764	0.149000	0.19098	0.561000	0.74099	GAG	KIAA0556	-	NULL	ENSG00000047578		0.622	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	-	0	46	0	G	NM_015202		27752022	1	tier1	-	no_errors	ENST00000261588	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.286	A	A	27752022	G	A	27752022	3	1	90	1	0	0	0	0	1	0	0	0	8210	1059	37	1	2462	1	KIAA0556	16	27752022	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	8030190	27752022	62602731	259	25994											
ZNF688	146542	genome.wustl.edu	37	chr16	30581395	30581395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactggtgcgcttccactgCgaacttcctcttgaagcgca	7	10	9	15	3	1	1	0	1	1	0	3	2	3	1	3	1	4	2	3	1	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:30581395C>T	ENST00000223459.6	-	3	1777	c.673G>A	c.(673-675)Gca>Aca	p.A225T	ZNF688_ENST00000395219.1_Missense_Mutation_p.A211T|AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	225					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GCTTCCACTGCGAACTTCCTC	0.701																																																	0													14	16	15					16																	30581395		2191	4283	6474	SO:0001583	missense	0			AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"Zinc fingers, C2H2-type", "-"	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.673G>A	16.37:g.30581395C>T	ENSP00000223459:p.Ala225Thr		A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A225T	ENST00000223459.6	37	c.673	CCDS10684.1	16	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566195	0.65651	.	.	ENSG00000229809	ENST00000395219;ENST00000223459	T;T	0.28454	1.61;1.61	4.42	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38108	0.1028	L	0.34521	1.04	0.31992	N	0.604543	P;D	0.76494	0.58;0.999	B;D	0.75020	0.098;0.985	T	0.32693	-0.9897	9	0.23302	T	0.38	.	8.5301	0.33329	0.0:0.8925:0.0:0.1075	.	225;211	P0C7X2;A8MV39	ZN688_HUMAN;.	T	211;225	ENSP00000378645:A211T;ENSP00000223459:A225T	ENSP00000223459:A225T	A	-	1	0	ZNF688	30488896	0.000000	0.05858	0.965000	0.40720	0.973000	0.67179	0.359000	0.20233	1.203000	0.43233	0.467000	0.42956	GCA	ZNF688	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229809		0.701	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF688	HGNC	protein_coding	OTTHUMT00000255544.2	-	0	87	0	C	NM_145271		30581395	-1	tier1	-	no_errors	ENST00000223459	ensembl	human	known	74_37	missense	47.46	30	28	SNP	0.999	T	T	30581395	C	T	30581395	3	4	90	1	0	0	0	0	1	0	0	0	18141	768	27	1	161	1	ZNF688	16	30581395	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2829373	30581395	59773358	260	25995											
ADCY7	113	genome.wustl.edu	37	chr16	50342659	50342659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggctgaccctggccGtcctgaccatcggcagcctg	5	8	13	15	2	0	3	0	3	0	0	2	3	1	3	5	3	2	3	5	3	0	0	rs557056202		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:50342659G>T	ENST00000394697.2	+	17	2357	c.2017G>T	c.(2017-2019)Gtc>Ttc	p.V673F	ADCY7_ENST00000537579.1_3'UTR|ADCY7_ENST00000566433.2_Missense_Mutation_p.V673F|ADCY7_ENST00000538642.1_Missense_Mutation_p.V673F|ADCY7_ENST00000254235.3_Missense_Mutation_p.V673F			P51828	ADCY7_HUMAN	adenylate cyclase 7	673					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GACCCTGGCCGTCCTGACCAT	0.647																																																	0													52	48	49					16																	50342659		2198	4300	6498	SO:0001583	missense	0			D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"Adenylate cyclases"	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.2017G>T	16.37:g.50342659G>T	ENSP00000378187:p.Val673Phe		A0AVA6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V673F	ENST00000394697.2	37	c.2017	CCDS10741.1	16	.	.	.	.	.	.	.	.	.	.	G	9.796	1.179221	0.21787	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;D;D	0.82619	0.81;-1.63;-1.63	5.27	-0.775	0.10988	.	0.817887	0.10184	U	0.705471	D	0.84220	0.5424	M	0.63843	1.955	0.27005	N	0.964818	B;P	0.50272	0.015;0.933	B;P	0.52823	0.018;0.71	T	0.74484	-0.3650	10	0.25751	T	0.34	.	11.5183	0.50536	0.3843:0.0:0.6157:0.0	.	673;673	P51828;F5H4D1	ADCY7_HUMAN;.	F	673	ENSP00000445046:V673F;ENSP00000378187:V673F;ENSP00000254235:V673F	ENSP00000254235:V673F	V	+	1	0	ADCY7	48900160	0.228000	0.23718	0.011000	0.14972	0.495000	0.33615	0.672000	0.25187	-0.326000	0.08564	-1.134000	0.01955	GTC	ADCY7	-	NULL	ENSG00000121281		0.647	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY7	HGNC	protein_coding	OTTHUMT00000256877.3		0	110	0	G			50342659	1			no_errors	ENST00000254235	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.074	T	T	50342659	G	T	50342659	3	4	90	1	0	0	0	0	1	0	0	0	299	1145	40	2	2079	2	ADCY7	16	50342659	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	19761264	50342659	40012094	261	25996											
CDH11	1009	genome.wustl.edu	37	chr16	65005844	65005844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggattacctggttggaaAgtggcttggtctgatcactc	8	12	13	8	0	2	1	1	1	1	0	3	3	2	3	1	5	1	3	1	5	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:65005844A>G	ENST00000268603.4	-	10	2129	c.1514T>C	c.(1513-1515)cTt>cCt	p.L505P	CDH11_ENST00000394156.3_Missense_Mutation_p.L505P|CDH11_ENST00000566827.1_Missense_Mutation_p.L379P	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	505	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGGTTGGAAAGTGGCTTGGT	0.453			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													87	71	77					16																	65005844		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1514T>C	16.37:g.65005844A>G	ENSP00000268603:p.Leu505Pro		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L505P	ENST00000268603.4	37	c.1514	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398390	0.42512	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.59083	2.27;0.29	5.91	4.81	0.61882	Cadherin (1);Cadherin-like (1);	0.140067	0.31246	N	0.007989	T	0.40247	0.1109	N	0.08118	0	0.80722	D	1	B;P	0.51791	0.384;0.948	B;P	0.46049	0.26;0.502	T	0.30563	-0.9974	10	0.35671	T	0.21	.	10.7018	0.45931	0.857:0.0:0.0:0.143	.	505;505	P55287-2;P55287	.;CAD11_HUMAN	P	505;505;488	ENSP00000268603:L505P;ENSP00000377711:L505P	ENSP00000268603:L505P	L	-	2	0	CDH11	63563345	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.389000	0.52516	1.048000	0.40298	0.533000	0.62120	CTT	CDH11	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000140937		0.453	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	65	0	A	NM_033664		65005844	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	65.12	15	28	SNP	0.999	G	G	65005844	A	G	65005844	3	3	90	1	0	0	0	0	1	0	0	0	3104	72	3	4	892	4	CDH11	16	65005844	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	14663185	65005844	25348909	262	25997											
LRRC36	55282	genome.wustl.edu	37	chr16	67404883	67404883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatttcaacagtgaccctgCtgtacttgtcaatgtagagc	10	12	8	11	0	2	2	2	1	0	1	2	2	2	2	2	0	4	3	2	0	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr16:67404883C>T	ENST00000329956.6	+	9	1251	c.1232C>T	c.(1231-1233)gCt>gTt	p.A411V	LRRC36_ENST00000290940.7_Missense_Mutation_p.A143V|LRRC36_ENST00000435835.3_Missense_Mutation_p.A290V|LRRC36_ENST00000563189.1_Missense_Mutation_p.A290V|LRRC36_ENST00000541146.1_5'UTR	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	411										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGTGACCCTGCTGTACTTGTC	0.478																																																	0													193	165	175					16																	67404883		2198	4300	6498	SO:0001583	missense	0			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1232C>T	16.37:g.67404883C>T	ENSP00000329943:p.Ala411Val		A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	NULL	p.A411V	ENST00000329956.6	37	c.1232	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582728	0.46006	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.58797	2.62;0.31;0.93	5.7	3.75	0.43078	.	0.425278	0.27362	N	0.019708	T	0.65186	0.2667	L	0.59436	1.845	0.80722	D	1	B;B;D;P	0.65815	0.043;0.043;0.995;0.93	B;B;P;P	0.59825	0.047;0.083;0.864;0.71	T	0.65529	-0.6146	10	0.87932	D	0	-2.7511	7.9684	0.30113	0.0:0.7542:0.1607:0.0851	.	290;143;290;411	B7Z7B3;Q9NV11;Q1X8D7-2;Q1X8D7	.;.;.;LRC36_HUMAN	V	411;143;290	ENSP00000329943:A411V;ENSP00000290940:A143V;ENSP00000411122:A290V	ENSP00000290940:A143V	A	+	2	0	LRRC36	65962384	0.994000	0.37717	0.969000	0.41365	0.174000	0.22865	0.783000	0.26802	0.777000	0.33496	-0.304000	0.09214	GCT	LRRC36	-	NULL	ENSG00000159708		0.478	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	-	0	46	0	C	NM_018296		67404883	1	tier1	-	no_errors	ENST00000329956	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.999	T	T	67404883	C	T	67404883	3	4	90	1	0	0	0	0	1	0	0	0	9025	797	28	3	1294	3	LRRC36	16	67404883	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2399039	67404883	22949870	263	25998											
NUP88	4927	genome.wustl.edu	37	chr17	5302881	5302881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaactcacctgatccaaGaaatttgtgaagtttatgaa	16	12	7	6	0	1	4	1	3	0	1	2	4	2	4	2	0	1	2	2	0	7	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:5302881G>T	ENST00000573584.1	-	8	1791	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	428					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L428I(1)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGATCCAAGAAATTTGTGA	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											74	70	71					17																	5302881		2203	4300	6503	SO:0001583	missense	0			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"nucleoporin 88kD"			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1282C>A	17.37:g.5302881G>T	ENSP00000458954:p.Leu428Ile		D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.L428I	ENST00000573584.1	37	c.1282	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022303	0.54683	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.59436	1.845	0.58432	D	0.999993	P;B;D	0.69078	0.476;0.288;0.997	B;B;D	0.85130	0.159;0.069;0.997	T	0.74420	-0.3671	9	0.39692	T	0.17	-0.711	16.987	0.86342	0.0:0.0:1.0:0.0	.	428;297;428	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	I	428;297	.	ENSP00000225696:L428I	L	-	1	0	NUP88	5243605	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.784000	0.75084	2.580000	0.87095	0.460000	0.39030	CTT	NUP88	-	pfam_Nucleoporin_Nup88	ENSG00000108559		0.343	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3		0	50	0	G	NM_002532		5302881	-1			no_errors	ENST00000573584	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	5302881	G	T	5302881	3	4	90	1	0	0	0	0	1	0	0	0	10810	942	33	3	983	3	NUP88	17	5302881	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		5302881	75892329	264	25999											
WSCD1	23302	genome.wustl.edu	37	chr17	6023844	6023844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggcagcttccggcggCgcggccggcgctcccacgac	5	3	17	16	7	0	0	0	0	0	0	2	2	2	1	3	6	1	3	3	6	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:6023844C>T	ENST00000574946.1	+	9	1981	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	WSCD1_ENST00000539421.1_Missense_Mutation_p.R531C|WSCD1_ENST00000317744.5_Missense_Mutation_p.R531C|WSCD1_ENST00000573634.1_Missense_Mutation_p.R415C|WSCD1_ENST00000574232.1_Missense_Mutation_p.R531C			Q658N2	WSCD1_HUMAN	WSC domain containing 1	531						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CTTCCGGCGGCGCGGCCGGCG	0.637																																																	0													57	60	59					17																	6023844		2202	4300	6502	SO:0001583	missense	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1591C>T	17.37:g.6023844C>T	ENSP00000460825:p.Arg531Cys		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.R531C	ENST00000574946.1	37	c.1591	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895614	0.72639	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.33438	1.41;1.41	5.44	5.44	0.79542	.	0.613434	0.18327	N	0.144617	T	0.22282	0.0537	N	0.19112	0.55	0.37518	D	0.917414	D	0.53885	0.963	B	0.43360	0.417	T	0.07424	-1.0773	10	0.59425	D	0.04	-10.1083	10.2338	0.43270	0.0:0.91:0.0:0.09	.	531	Q658N2	WSCD1_HUMAN	C	531	ENSP00000323087:R531C;ENSP00000446032:R531C	ENSP00000323087:R531C	R	+	1	0	WSCD1	5964568	0.759000	0.28416	0.740000	0.30986	0.946000	0.59487	4.664000	0.61540	2.549000	0.85964	0.655000	0.94253	CGC	WSCD1	-	superfamily_P-loop_NTPase	ENSG00000179314		0.637	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4	-	0	115	0	C	NM_015253		6023844	1	tier1	-	no_errors	ENST00000317744	ensembl	human	known	74_37	missense	28.33	42	17	SNP	0.695	T	T	6023844	C	T	6023844	3	4	90	1	0	0	0	0	1	0	0	0	17455	768	27	1	1621	1	WSCD1	17	6023844	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	720963	6023844	75171366	265	26000											
C17orf68	80169	genome.wustl.edu	37	chr17	8133261	8133261	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacataagtggatgaccGgaaacaacaataaacattgt	17	8	8	8	1	0	1	0	1	0	0	0	3	0	3	1	2	4	1	1	2	6	3	rs202138550	byFrequency	TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:8133261G>T	ENST00000315684.8	-	18	2966	c.2959C>A	c.(2959-2961)Cgg>Agg	p.R987R		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	987			R -> W (in CRMCC). {ECO:0000269|PubMed:22267198}.		bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GTGGATGACCGGAAACAACAA	0.498																																																	0													121	124	123					17																	8133261		2003	4184	6187	SO:0001819	synonymous_variant	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"conserved telomere maintenance component 1", "alpha accessory factor 132", "conserved telomere capping protein 1"	613129	"tmp494178", "chromosome 17 open reading frame 68"	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2959C>A	17.37:g.8133261G>T			B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Silent	SNP	NULL	p.R987	ENST00000315684.8	37	c.2959	CCDS42259.1	17																																																																																			CTC1	-	NULL	ENSG00000178971		0.498	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1		0	46	0	G	NM_025099		8133261	-1			no_errors	ENST00000315684	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T	T	8133261	G	T	8133261	2	4	90	1	0	0	0	0	0	0	0	1	1882	1115	39	2		2	C17orf68	17	8133261	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2109417	8133261	73061949	266	26001											
MYH13	8735	genome.wustl.edu	37	chr17	10212569	10212569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgggagtgcaggagctgCacgcggtcgctggcgtccag	6	6	17	12	4	0	0	0	0	0	0	2	2	1	2	2	4	3	4	2	4	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:10212569C>T	ENST00000418404.3	-	34	5314	c.5151G>A	c.(5149-5151)gtG>gtA	p.V1717V	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.V1717V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1717					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCAGGAGCTGCACGCGGTCGC	0.667																																																	0													21	22	22					17																	10212569		2070	4188	6258	SO:0001819	synonymous_variant	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5151G>A	17.37:g.10212569C>T			O95252|Q9P0U8	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1717	ENST00000418404.3	37	c.5151	CCDS45613.1	17																																																																																			MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.667	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1		0	25	0	C	NM_003802		10212569	-1			no_errors	ENST00000252172	ensembl	human	known	74_37	silent	16.67	15	3	SNP	1.000	T	T	10212569	C	T	10212569	2	4	90	1	0	0	0	0	0	0	0	1	10070	697	25	3		3	MYH13	17	10212569	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2079308	10212569	70982641	267	26002											
DNAH9	1770	genome.wustl.edu	37	chr17	11837260	11837260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggaggccatatcacagatGactgggacagaagactctgc	13	7	12	9	0	2	4	1	1	1	3	2	6	2	6	1	3	1	0	1	3	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:11837260G>A	ENST00000262442.4	+	65	12429	c.12361G>A	c.(12361-12363)Gac>Aac	p.D4121N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D4045N|DNAH9_ENST00000608377.1_Missense_Mutation_p.D433N|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4121					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCACAGATGACTGGGACAG	0.498																																																	0													99	95	97					17																	11837260		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12361G>A	17.37:g.11837260G>A	ENSP00000262442:p.Asp4121Asn		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D4121N	ENST00000262442.4	37	c.12361	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871661	0.51695	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.09817	2.94;2.94;2.94	5.0	3.03	0.35002	Dynein heavy chain (1);	0.138632	0.64402	D	0.000005	T	0.22126	0.0533	M	0.82323	2.585	0.58432	D	0.999995	B	0.31989	0.35	B	0.41202	0.35	T	0.07443	-1.0772	10	0.56958	D	0.05	.	12.2829	0.54774	0.1458:0.0:0.8542:0.0	.	4121	Q9NYC9	DYH9_HUMAN	N	4121;4045;2627;433	ENSP00000262442:D4121N;ENSP00000414874:D4045N;ENSP00000379323:D433N	ENSP00000262442:D4121N	D	+	1	0	DNAH9	11777985	1.000000	0.71417	0.906000	0.35671	0.867000	0.49689	6.480000	0.73604	1.478000	0.48253	-0.143000	0.13931	GAC	DNAH9	-	pfam_Dynein_heavy_dom	ENSG00000007174		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	-	0	59	0	G	NM_001372		11837260	1	tier1	-	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	27.66	34	13	SNP	0.998	A	A	11837260	G	A	11837260	3	1	90	1	0	0	0	0	1	0	0	0	4622	1290	45	3	12619	3	DNAH9	17	11837260	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1624691	11837260	69357950	268	26003											
SEZ6	124925	genome.wustl.edu	37	chr17	27287688	27287688	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccattgcgaatgatgaGcctgaaccaggagagtggca	11	7	13	10	1	0	4	0	3	0	1	1	6	1	4	4	2	3	1	4	2	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:27287688G>T	ENST00000317338.12	-	7	1839	c.1411C>A	c.(1411-1413)Ctc>Atc	p.L471I	SEZ6_ENST00000360295.9_Splice_Site_p.L471I|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Splice_Site_p.L471I|SEZ6_ENST00000335960.6_Splice_Site_p.L471I			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	471	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGAATGATGAGCCTGAACCAG	0.587																																																	0													41	47	45					17																	27287688		2076	4207	6283	SO:0001630	splice_region_variant	0			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"seizure related gene 6 (mouse) homolog"			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1410-1C>A	17.37:g.27287688G>T			B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L471I	ENST00000317338.12	37	c.1411	CCDS45639.1	17	.	.	.	.	.	.	.	.	.	.	G	18.33	3.601197	0.66445	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.41065	1.01;1.01;1.01	4.22	4.22	0.49857	CUB (5);	0.000000	0.64402	D	0.000002	T	0.63462	0.2513	M	0.76727	2.345	0.45025	D	0.998049	D;D	0.76494	0.999;0.993	D;D	0.79784	0.993;0.965	T	0.68284	-0.5449	10	0.72032	D	0.01	.	14.4785	0.67564	0.0:0.0:1.0:0.0	.	471;471	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	I	471;471;346;471;471	ENSP00000403784:L471I;ENSP00000353440:L471I;ENSP00000337407:L471I	ENSP00000312942:L346I	L	-	1	0	SEZ6	24311814	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.517000	0.35867	2.365000	0.80145	0.305000	0.20034	CTC	SEZ6	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000063015		0.587	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	-	0	62	0	G		Missense_Mutation	27287688	-1	tier1	-	no_errors	ENST00000317338	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	T	T	27287688	G	T	27287688	5	4	90	1	0	0	0	0	0	0	1	0	14187	985	34	3	1630	3	SEZ6	17	27287688	Splice_Site	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	15450428	27287688	53907522	269	26004											
MED1	5469	genome.wustl.edu	37	chr17	37564479	37564479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggctggaagaatttgtgCtcacccccatctggccgtcc	7	10	11	13	1	2	1	1	0	1	1	3	3	3	2	4	3	1	2	4	3	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:37564479C>T	ENST00000300651.6	-	17	4218	c.3995G>A	c.(3994-3996)aGc>aAc	p.S1332N	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGAATTTGTGCTCACCCCCAT	0.498										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													94	102	99					17																	37564479		2203	4298	6501	SO:0001583	missense	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3995G>A	17.37:g.37564479C>T	ENSP00000300651:p.Ser1332Asn		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S1332N	ENST00000300651.6	37	c.3995	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912109	0.52439	.	.	ENSG00000125686	ENST00000300651	T	0.35605	1.3	5.2	5.2	0.72013	.	.	.	.	.	T	0.24661	0.0598	N	0.14661	0.345	0.42849	D	0.99407	B	0.29432	0.244	B	0.19666	0.026	T	0.05053	-1.0909	9	0.32370	T	0.25	-9.1213	19.2916	0.94102	0.0:1.0:0.0:0.0	.	1332	Q15648	MED1_HUMAN	N	1332	ENSP00000300651:S1332N	ENSP00000300651:S1332N	S	-	2	0	MED1	34818005	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.055000	0.30467	2.861000	0.98227	0.655000	0.94253	AGC	MED1	-	NULL	ENSG00000125686		0.498	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	-	0	23	0	C	NM_004774		37564479	-1	tier1	-	no_errors	ENST00000300651	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	T	T	37564479	C	T	37564479	3	4	90	1	0	0	0	0	1	0	0	0	9463	797	28	3	754	3	MED1	17	37564479	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	10276791	37564479	43630731	270	26005											
CDC6	990	genome.wustl.edu	37	chr17	38457815	38457815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagggctcttggaagccagGggcattttaggattaaagag	11	10	14	6	0	2	1	1	0	1	1	2	3	2	3	1	5	1	2	1	5	4	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:38457815G>T	ENST00000209728.4	+	11	2019	c.1548G>T	c.(1546-1548)agG>agT	p.R516S	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	516					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGGAAGCCAGGGGCATTTTAG	0.433																																																	0													137	148	144					17																	38457815		2203	4300	6503	SO:0001583	missense	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1548G>T	17.37:g.38457815G>T	ENSP00000209728:p.Arg516Ser		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.R516S	ENST00000209728.4	37	c.1548	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	19.29	3.800006	0.70567	.	.	ENSG00000094804	ENST00000209728	T	0.42900	0.96	5.71	2.57	0.30868	Winged helix-turn-helix transcription repressor DNA-binding (1);CDC6, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.84433	2.695	0.52501	D	0.99995	D	0.89917	1.0	D	0.75484	0.986	T	0.60910	-0.7169	10	0.15499	T	0.54	-6.308	9.5737	0.39445	0.2414:0.0:0.7586:0.0	.	516	Q99741	CDC6_HUMAN	S	516	ENSP00000209728:R516S	ENSP00000209728:R516S	R	+	3	2	CDC6	35711341	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.417000	0.34770	0.388000	0.25054	0.655000	0.94253	AGG	CDC6	-	pfam_Cdc6_C_dom,pirsf_Cell_div_Cdc6/18	ENSG00000094804		0.433	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	-	0	64	0	G			38457815	1	tier1	-	no_errors	ENST00000209728	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	38457815	G	T	38457815	3	4	90	1	0	0	0	0	1	0	0	0	3090	1223	43	3	1586	3	CDC6	17	38457815	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	893336	38457815	42737395	271	26006											
KRT32	3882	genome.wustl.edu	37	chr17	39622043	39622043	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcctcatggttctttttGaggcacatcagctcctcctt	6	15	6	14	0	3	1	2	1	1	0	6	1	6	1	4	2	1	3	4	2	0	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:39622043G>C	ENST00000225899.3	-	3	793	c.690C>G	c.(688-690)ctC>ctG	p.L230L	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	230	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GGTTCTTTTTGAGGCACATCA	0.597																																																	0													77	65	69					17																	39622043		2203	4300	6503	SO:0001819	synonymous_variant	0			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"-", "Intermediate filaments type I, keratins (acidic)"	6449	protein-coding gene	gene with protein product	"hard keratin type I"	602760	"keratin, hair, acidic, 2"	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.690C>G	17.37:g.39622043G>C				Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L230	ENST00000225899.3	37	c.690	CCDS11393.1	17																																																																																			KRT32	-	pfam_IF	ENSG00000108759		0.597	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	-	0	70	0	G	NM_002278		39622043	-1	tier1	-	no_errors	ENST00000225899	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.997	C	C	39622043	G	C	39622043	2	2	90	1	0	0	0	0	0	0	0	1	8495	1277	45	5		5	KRT32	17	39622043	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1164228	39622043	41573167	272	26007											
CALCOCO2	10241	genome.wustl.edu	37	chr17	46919220	46919220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccagcatttcatccctCgtcgaaaggattggattggc	9	11	9	12	2	2	0	2	0	0	0	5	3	3	2	2	3	1	1	2	3	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:46919220C>T	ENST00000258947.3	+	2	252	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	CALCOCO2_ENST00000508679.1_Intron|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.R51C|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.R51C|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.R51C	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	51					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTTCATCCCTCGTCGAAAGGA	0.433																																																	0													158	141	147					17																	46919220		2203	4300	6503	SO:0001583	missense	0			BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.151C>T	17.37:g.46919220C>T	ENSP00000258947:p.Arg51Cys		B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Missense_Mutation	SNP	pfam_CoCoA	p.R51C	ENST00000258947.3	37	c.151	CCDS11538.1	17	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851099	0.71719	.	.	ENSG00000136436	ENST00000258947;ENST00000509507;ENST00000448105;ENST00000509415;ENST00000416445;ENST00000505071;ENST00000502761	T;T;T;T;T;T;T	0.12879	2.98;2.64;2.64;2.98;2.98;2.98;2.98	6.07	5.1	0.69264	.	0.317776	0.27971	N	0.017114	T	0.20941	0.0504	M	0.64997	1.995	0.80722	D	1	P;B;B;B	0.46512	0.879;0.277;0.277;0.29	B;B;B;B	0.43123	0.409;0.099;0.099;0.189	T	0.01810	-1.1269	10	0.66056	D	0.02	-4.5483	16.4837	0.84171	0.1322:0.8678:0.0:0.0	.	51;51;51;51	E7ETP5;B4DP36;E9PBE5;Q13137	.;.;.;CACO2_HUMAN	C	51	ENSP00000258947:R51C;ENSP00000424352:R51C;ENSP00000398523:R51C;ENSP00000425692:R51C;ENSP00000406974:R51C;ENSP00000422697:R51C;ENSP00000424889:R51C	ENSP00000258947:R51C	R	+	1	0	CALCOCO2	44274219	0.947000	0.32204	0.135000	0.22099	0.894000	0.52154	2.294000	0.43567	1.561000	0.49584	0.655000	0.94253	CGT	CALCOCO2	-	pfam_CoCoA	ENSG00000136436		0.433	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALCOCO2	HGNC	protein_coding	OTTHUMT00000360866.1		0	49	0	C	NM_005831		46919220	1			no_errors	ENST00000258947	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.791	T	T	46919220	C	T	46919220	3	4	90	1	0	0	0	0	1	0	0	0	2585	884	31	1	153	1	CALCOCO2	17	46919220	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	7297177	46919220	34275990	273	26008											
CCDC57	284001	genome.wustl.edu	37	chr17	80146217	80146217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctggtctgcagctcctgCagctgctccacgtgggctcc	4	9	11	17	1	1	0	0	0	1	0	4	0	4	0	4	2	5	6	4	2	0	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr17:80146217C>T	ENST00000389641.4	-	7	966	c.930G>A	c.(928-930)ctG>ctA	p.L310L	CCDC57_ENST00000392343.3_Silent_p.L310L|CCDC57_ENST00000392347.1_Silent_p.L310L			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	310										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCAGCTCCTGCAGCTGCTCCA	0.652																																																	0													30	35	34					17																	80146217		2175	4272	6447	SO:0001819	synonymous_variant	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.930G>A	17.37:g.80146217C>T			A6NP51|A8MQC7|Q8IWG2|Q8TER3	Silent	SNP	NULL	p.L310	ENST00000389641.4	37	c.930		17																																																																																			CCDC57	-	NULL	ENSG00000176155		0.652	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	-	0	38	0	C	NM_198082		80146217	-1	tier1	-	no_errors	ENST00000389641	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.995	T	T	80146217	C	T	80146217	2	4	90	1	0	0	0	0	0	0	0	1	2834	697	25	3		3	CCDC57	17	80146217	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	33226997	80146217	1048993	274	26009											
ARHGAP28	79822	genome.wustl.edu	37	chr18	6882174	6882174	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgccaagtttaatgctgaTaaatttaaatgggacaaaat	17	12	8	4	0	0	1	0	1	0	0	0	3	0	2	1	1	2	2	1	1	8	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr18:6882174T>C	ENST00000383472.4	+	11	1433	c.1329T>C	c.(1327-1329)gaT>gaC	p.D443D	ARHGAP28_ENST00000532996.1_Silent_p.D266D|ARHGAP28_ENST00000314319.3_Silent_p.D284D|ARHGAP28_ENST00000531294.1_Silent_p.D279D|ARHGAP28_ENST00000262227.3_Silent_p.D391D|ARHGAP28_ENST00000400091.2_Silent_p.D443D|ARHGAP28_ENST00000418986.1_Silent_p.D284D|ARHGAP28_ENST00000419673.2_Silent_p.D284D			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	443	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TTAATGCTGATAAATTTAAAT	0.398																																																	0													159	154	156					18																	6882174		2203	4300	6503	SO:0001819	synonymous_variant	0			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"Rho GTPase activating proteins"	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1329T>C	18.37:g.6882174T>C			A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D443	ENST00000383472.4	37	c.1329		18																																																																																			ARHGAP28	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000088756		0.398	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	-	0	53	0	T	XM_371108		6882174	1	tier1	-	no_errors	ENST00000400091	ensembl	human	known	74_37	silent	51.85	13	14	SNP	0.652	C	C	6882174	T	C	6882174	2	2	90	1	0	0	0	0	0	0	0	1	877	1403	49	4		4	ARHGAP28	18	6882174	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09		6882174	71195074	275	26010											
SPIRE1	56907	genome.wustl.edu	37	chr18	12496079	12496079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcactcttttttaacCgagggggaatatcaccattc	11	12	8	10	1	2	1	1	1	1	0	3	3	2	2	2	2	2	1	2	2	3	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr18:12496079C>A	ENST00000409402.4	-	7	1262	c.995G>T	c.(994-996)cGg>cTg	p.R332L	SPIRE1_ENST00000383356.2_Missense_Mutation_p.R173L|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R212L|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R332L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R135L|SPIRE1_ENST00000464481.1_5'Flank	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1									p.R173L(1)|p.R332L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTTTTTTAACCGAGGGGGAAT	0.373																																																	2	Substitution - Missense(2)	lung(2)											108	107	107					18																	12496079		2203	4300	6503	SO:0001583	missense	0			AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"spire homolog 1 (Drosophila)", "spire family actin nucleation factor 1"			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.995G>T	18.37:g.12496079C>A	ENSP00000387266:p.Arg332Leu			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.R332L	ENST00000409402.4	37	c.995	CCDS45829.1	18	.	.	.	.	.	.	.	.	.	.	C	33	5.200830	0.94997	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.52057	0.73;1.27;1.27;0.69;0.68	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	L	0.45698	1.435	0.80722	D	1	P;D;D	0.89917	0.94;1.0;1.0	P;D;D	0.85130	0.882;0.997;0.989	T	0.65615	-0.6125	10	0.72032	D	0.01	-17.2615	19.9598	0.97242	0.0:1.0:0.0:0.0	.	332;135;332	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	L	212;332;332;135;173	ENSP00000407050:R212L;ENSP00000387266:R332L;ENSP00000387226:R332L;ENSP00000309661:R135L;ENSP00000372847:R173L	ENSP00000309661:R135L	R	-	2	0	SPIRE1	12486079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.471000	0.53107	2.716000	0.92895	0.655000	0.94253	CGG	SPIRE1	-	NULL	ENSG00000134278		0.373	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPIRE1	HGNC	protein_coding	OTTHUMT00000333109.2		0	60	0	C	XM_290818		12496079	-1			no_errors	ENST00000409402	ensembl	human	known	74_37	missense	6.90	26	2	SNP	1.000	A	A	12496079	C	A	12496079	3	1	90	1	0	0	0	0	1	0	0	0	15118	652	23	2	1319	2	SPIRE1	18	12496079	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	5613905	12496079	65581169	276	26011											
ZNF521	25925	genome.wustl.edu	37	chr18	22806601	22806601	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggcttatctaagtgcatAgttttcaggtgaatctgcag	9	15	10	7	0	4	1	1	1	3	0	4	1	4	1	0	2	2	4	0	2	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr18:22806601A>G	ENST00000361524.3	-	4	1429	c.1281T>C	c.(1279-1281)acT>acC	p.T427T	ZNF521_ENST00000584787.1_Silent_p.T207T|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.T427T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	427					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTAAGTGCATAGTTTTCAGGT	0.408			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													85	87	86					18																	22806601		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"Zinc fingers, C2H2-type"	24605	protein-coding gene	gene with protein product	"early hematopoietic zinc finger"	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1281T>C	18.37:g.22806601A>G			A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T427	ENST00000361524.3	37	c.1281	CCDS32806.1	18																																																																																			ZNF521	-	smart_Znf_C2H2-like	ENSG00000198795		0.408	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0	65	0	A	NM_015461		22806601	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	silent	29.03	22	9	SNP	1.000	G	G	22806601	A	G	22806601	2	3	90	1	0	0	0	0	0	0	0	1	18013	407	15	4		4	ZNF521	18	22806601	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	10310522	22806601	55270647	277	26012											
DCC	1630	genome.wustl.edu	37	chr18	50985741	50985741	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccctgcaggaagggacTctcccatccaaagttgccaa	11	7	9	14	0	1	1	0	1	1	0	3	3	2	3	4	2	2	2	4	2	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr18:50985741T>G	ENST00000442544.2	+	24	4148	c.3532T>G	c.(3532-3534)Tct>Gct	p.S1178A	DCC_ENST00000581580.1_Missense_Mutation_p.S813A	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1178					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGAAGGGACTCTCCCATCCA	0.483																																																	0													140	137	138					18																	50985741		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3532T>G	18.37:g.50985741T>G	ENSP00000389140:p.Ser1178Ala			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1178A	ENST00000442544.2	37	c.3532	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	T	12.61	1.990389	0.35131	.	.	ENSG00000187323	ENST00000442544	T	0.48201	0.82	5.93	4.76	0.60689	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.56529	0.1991	L	0.51422	1.61	0.41784	D	0.989831	D	0.55172	0.97	P	0.60068	0.868	T	0.53215	-0.8470	10	0.32370	T	0.25	-5.4404	11.6178	0.51099	0.1335:0.0:0.0:0.8665	.	1178	P43146	DCC_HUMAN	A	1178	ENSP00000389140:S1178A	ENSP00000389140:S1178A	S	+	1	0	DCC	49239739	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.048000	0.49862	1.046000	0.40249	0.533000	0.62120	TCT	DCC	-	pfam_Neogenin_C	ENSG00000187323		0.483	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	36	0	T	NM_005215		50985741	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	70.83	7	17	SNP	1.000	G	G	50985741	T	G	50985741	3	3	90	1	0	0	0	0	1	0	0	0	4291	1551	54	4	3626	4	DCC	18	50985741	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	28179140	50985741	27091507	278	26013											
TCF3	6929	genome.wustl.edu	37	chr19	1619821	1619821	+	Frame_Shift_Del	DEL	G	G	-																															tagctgggcgataaggcaccGggggctcctgctcgaggcca																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:1619821delG	ENST00000262965.5	-	14	1469	c.1125delC	c.(1123-1125)cccfs	p.P375fs	TCF3_ENST00000395423.3_Frame_Shift_Del_p.P324fs|TCF3_ENST00000588136.1_Frame_Shift_Del_p.P375fs|TCF3_ENST00000453954.2_Frame_Shift_Del_p.P291fs|TCF3_ENST00000344749.5_Frame_Shift_Del_p.P375fs	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	227					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAAGGCACCGGGGGCTCCTG	0.682			T	"PBX1, HLF, TFPT"	pre B-ALL																																			Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													27	19	22					19																	1619821		2186	4290	6476	SO:0001589	frameshift_variant	0			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1125delC	19.37:g.1619821delG	ENSP00000262965:p.Pro375fs		Q53R97|Q6PD70|Q9NP00	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G376fs	ENST00000262965.5	37	c.1125	CCDS12074.1	19																																																																																			TCF3	-	NULL	ENSG00000071564		0.682	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449367.1		0	64	0	G	NM_003200		1619821	-1	tier1		no_errors	ENST00000262965	ensembl	human	known	74_37	frame_shift_del	10.34	26	3	DEL	0.983	-	-	1619821	G	-	1619821	7	5	90	1	0	1	0	1	0	0	0	0	15741	1103	39	0	1094	0	TCF3	19	1619821	Frame_Shift_Del	DEL	G	TCGA-L5-A8NR-01A-11D-A37C-09		1619821	57509162	279	26014											
FBN3	84467	genome.wustl.edu	37	chr19	8191462	8191462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagcggctctcctggatcTtcagccagcaggtgcccttg	6	9	11	15	1	3	0	1	0	2	0	4	1	3	1	3	3	4	2	3	3	0	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:8191462T>C	ENST00000600128.1	-	20	2858	c.2444A>G	c.(2443-2445)aAg>aGg	p.K815R	FBN3_ENST00000601739.1_Missense_Mutation_p.K815R|FBN3_ENST00000270509.2_Missense_Mutation_p.K815R			Q75N90	FBN3_HUMAN	fibrillin 3	815	TB 4.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTCCTGGATCTTCAGCCAGCA	0.677																																																	0													37	34	35					19																	8191462		2203	4300	6503	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2444A>G	19.37:g.8191462T>C	ENSP00000470498:p.Lys815Arg		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.K815R	ENST00000600128.1	37	c.2444	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	t	8.836	0.941059	0.18281	.	.	ENSG00000142449	ENST00000270509	D	0.90732	-2.72	3.79	1.64	0.23874	Matrix fibril-associated (2);TGF-beta binding (1);	0.334930	0.29046	U	0.013309	D	0.83445	0.5256	L	0.44542	1.39	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.66740	-0.5847	10	0.22706	T	0.39	.	7.5725	0.27915	0.0:0.1843:0.0:0.8157	.	815	Q75N90	FBN3_HUMAN	R	815	ENSP00000270509:K815R	ENSP00000270509:K815R	K	-	2	0	FBN3	8097462	0.974000	0.33945	0.109000	0.21407	0.892000	0.51952	1.383000	0.34385	-0.004000	0.14419	0.402000	0.26972	AAG	FBN3	-	superfamily_TB_dom,pirsf_FBN	ENSG00000142449		0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	167	0	T	NM_032447		8191462	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.405	C	C	8191462	T	C	8191462	3	2	90	1	0	0	0	0	1	0	0	0	5726	1609	56	4	6165	4	FBN3	19	8191462	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	6571641	8191462	50937521	280	26015											
MUC16	94025	genome.wustl.edu	37	chr19	9073258	9073258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggtttgtctgtgacacgtCcttgacatcattgttcattg	7	16	10	8	1	3	2	2	2	1	0	4	2	4	2	1	1	0	2	1	1	0	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:9073258C>T	ENST00000397910.4	-	3	14391	c.14188G>A	c.(14188-14190)Gac>Aac	p.D4730N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4732	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGACACGTCCTTGACATCA	0.488																																																	0													155	150	151					19																	9073258		2066	4196	6262	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14188G>A	19.37:g.9073258C>T	ENSP00000381008:p.Asp4730Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.D4730N	ENST00000397910.4	37	c.14188	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	1.669	-0.509508	0.04231	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	1.61	-3.23	0.05109	.	.	.	.	.	T	0.07098	0.0180	N	0.14661	0.345	.	.	.	P	0.39809	0.689	B	0.25987	0.065	T	0.10776	-1.0615	8	0.87932	D	0	.	0.7806	0.01040	0.169:0.2115:0.3342:0.2853	.	4730	B5ME49	.	N	4730	ENSP00000381008:D4730N	ENSP00000381008:D4730N	D	-	1	0	MUC16	8934258	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.229000	0.02945	-2.323000	0.00639	-0.389000	0.06534	GAC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	83	0	C	NM_024690		9073258	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	29.31	41	17	SNP	0.000	T	T	9073258	C	T	9073258	3	4	90	1	0	0	0	0	1	0	0	0	10011	855	30	3	29663	3	MUC16	19	9073258	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	881796	9073258	50055725	281	26016											
MUC16	94025	genome.wustl.edu	37	chr19	9077073	9077073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagagacactagtgaggtgGtttgtgctgtggaggtgatg	8	11	18	4	0	0	3	0	2	0	1	0	5	0	4	0	4	1	3	0	4	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:9077073G>A	ENST00000397910.4	-	3	10576	c.10373C>T	c.(10372-10374)aCc>aTc	p.T3458I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3459	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTGAGGTGGTTTGTGCTGT	0.488																																																	0													134	131	132					19																	9077073		2120	4231	6351	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10373C>T	19.37:g.9077073G>A	ENSP00000381008:p.Thr3458Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T3458I	ENST00000397910.4	37	c.10373	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.748	0.702649	0.15172	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.98	-0.343	0.12632	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	B	0.23540	0.087	B	0.19148	0.024	T	0.45071	-0.9286	8	0.87932	D	0	.	2.4897	0.04607	0.18:0.0:0.5313:0.2887	.	3458	B5ME49	.	I	3458	ENSP00000381008:T3458I	ENSP00000381008:T3458I	T	-	2	0	MUC16	8938073	0.001000	0.12720	0.000000	0.03702	0.629000	0.37895	0.408000	0.21065	-0.017000	0.14103	0.313000	0.20887	ACC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	43	0	G	NM_024690		9077073	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	68.97	9	20	SNP	0.000	A	A	9077073	G	A	9077073	3	1	90	1	0	0	0	0	1	0	0	0	10011	1261	44	3	33478	3	MUC16	19	9077073	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	3815	9077073	50051910	282	26017											
MUC16	94025	genome.wustl.edu	37	chr19	9083902	9083902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtaaagtagggaaggaaGctccagacagagtccccgta	14	5	14	8	1	0	2	0	0	0	2	2	5	2	5	3	3	1	4	3	3	6	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:9083902G>T	ENST00000397910.4	-	1	8116	c.7913C>A	c.(7912-7914)gCt>gAt	p.A2638D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2638	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGAAGGAAGCTCCAGACAG	0.483																																																	0													52	52	52					19																	9083902		1952	4147	6099	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7913C>A	19.37:g.9083902G>T	ENSP00000381008:p.Ala2638Asp		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A2638D	ENST00000397910.4	37	c.7913	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.529	-0.544748	0.04024	.	.	ENSG00000181143	ENST00000397910	T	0.02812	4.15	0.235	0.235	0.15431	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.35208	0.49	B	0.28991	0.097	T	0.43065	-0.9414	7	0.87932	D	0	.	.	.	.	.	2638	B5ME49	.	D	2638	ENSP00000381008:A2638D	ENSP00000381008:A2638D	A	-	2	0	MUC16	8944902	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.195000	0.09546	0.308000	0.22923	0.313000	0.20887	GCT	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0	30	0	G	NM_024690		9083902	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.002	T	T	9083902	G	T	9083902	3	4	90	1	0	0	0	0	1	0	0	0	10011	971	34	3	35946	3	MUC16	19	9083902	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	6829	9083902	50045081	283	26018											
ZNF439	90594	genome.wustl.edu	37	chr19	11979019	11979019	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaaactcacagtggaGagaaaccgtataaatgcaag	20	6	9	6	1	1	2	1	1	0	1	1	4	1	3	1	1	3	2	1	1	8	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:11979019G>T	ENST00000304030.2	+	3	1335	c.1135G>T	c.(1135-1137)Gag>Tag	p.E379*	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Nonsense_Mutation_p.E243*	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TCACAGTGGAGAGAAACCGTA	0.413																																																	0													57	57	57					19																	11979019		2203	4300	6503	SO:0001587	stop_gained	0			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"Zinc fingers, C2H2-type", "-"	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1135G>T	19.37:g.11979019G>T	ENSP00000305077:p.Glu379*		Q8IYZ7|Q96SU1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E379*	ENST00000304030.2	37	c.1135	CCDS12268.1	19	.	.	.	.	.	.	.	.	.	.	g	23.9	4.469797	0.84533	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	.	.	.	0.575	0.575	0.17374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.6675	0.34130	0.0:0.0:1.0:0.0	.	.	.	.	X	243;379	.	ENSP00000305077:E379X	E	+	1	0	ZNF439	11840019	0.752000	0.28338	0.173000	0.22940	0.085000	0.17905	1.557000	0.36299	0.577000	0.29470	0.194000	0.17425	GAG	ZNF439	-	pfscan_Znf_C2H2	ENSG00000171291		0.413	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF439	HGNC	protein_coding	OTTHUMT00000344513.1		0	70	0	G			11979019	1			no_errors	ENST00000304030	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	1.000	T	T	11979019	G	T	11979019	4	4	90	1	0	0	0	0	0	1	0	0	17959	943	33	3	1145	3	ZNF439	19	11979019	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2895117	11979019	47149964	284	26019											
GCDH	2639	genome.wustl.edu	37	chr19	13004319	13004319	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggctgtgctggggtttcGtctgtggcctatgggctcct	2	15	15	9	1	1	0	0	0	1	0	3	0	2	0	2	5	1	4	2	5	2	3	rs150674535		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:13004319G>T	ENST00000222214.5	+	6	568	c.357G>T	c.(355-357)tcG>tcT	p.S119S	GCDH_ENST00000591470.1_Silent_p.S119S|GCDH_ENST00000457854.1_Silent_p.S119S|GCDH_ENST00000422947.2_Silent_p.S75S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	119					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	CTGGGGTTTCGTCTGTGGCCT	0.597																																					GBM(123;875 1636 7726 16444 26754)												0													116	87	97					19																	13004319		2203	4300	6503	SO:0001819	synonymous_variant	0			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.357G>T	19.37:g.13004319G>T			A8K2Z2|O14719	Missense_Mutation	SNP	superfamily_AcylCoA_DH/oxidase_NM_dom	p.V138F	ENST00000222214.5	37	c.412	CCDS12286.1	19																																																																																			GCDH	-	NULL	ENSG00000105607		0.597	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	-	0	79	0	G			13004319	1	tier1	-	no_errors	ENST00000590530	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.038	T	T	13004319	G	T	13004319	2	4	90	1	0	0	0	0	0	0	0	1	6312	1132	40	2		2	GCDH	19	13004319	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	1025300	13004319	46124664	285	26020											
OR10H1	26539	genome.wustl.edu	37	chr19	15918274	15918274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggccaccaccagcacatCgtctccacaggccaacttca	10	8	6	17	1	2	0	1	0	1	0	4	0	2	0	5	2	2	1	5	2	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:15918274C>A	ENST00000334920.2	-	1	662	c.574G>T	c.(574-576)Gat>Tat	p.D192Y		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACCAGCACATCGTCTCCACAG	0.577																																																	0													219	168	185					19																	15918274		2203	4300	6503	SO:0001583	missense	0			AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"GPCR / Class A : Olfactory receptors"	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.574G>T	19.37:g.15918274C>A	ENSP00000335596:p.Asp192Tyr		Q6IFQ2|Q96R59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D192Y	ENST00000334920.2	37	c.574	CCDS12335.1	19	.	.	.	.	.	.	.	.	.	.	.	8.737	0.917938	0.17982	.	.	ENSG00000186723	ENST00000334920	T	0.00099	8.73	4.61	-6.53	0.01866	GPCR, rhodopsin-like superfamily (1);	0.879604	0.09613	N	0.778662	T	0.00210	0.0006	N	0.19112	0.55	0.09310	N	1	P	0.44578	0.838	P	0.59948	0.866	T	0.30504	-0.9976	10	0.72032	D	0.01	.	12.8599	0.57908	0.0:0.4137:0.0:0.5863	.	192	Q9Y4A9	O10H1_HUMAN	Y	192	ENSP00000335596:D192Y	ENSP00000335596:D192Y	D	-	1	0	OR10H1	15779274	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.934000	0.03955	-1.325000	0.02269	-2.259000	0.00280	GAT	OR10H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186723		0.577	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H1	HGNC	protein_coding	OTTHUMT00000460364.1	-	0	96	0	C			15918274	-1	tier1	-	no_errors	ENST00000334920	ensembl	human	known	74_37	missense	75.34	18	55	SNP	0.000	A	A	15918274	C	A	15918274	3	1	90	1	0	0	0	0	1	0	0	0	10944	884	31	2	386	2	OR10H1	19	15918274	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2913955	15918274	43210709	286	26021											
EPS15L1	58513	genome.wustl.edu	37	chr19	16528891	16528891	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctttgcttaacttcccCgtttgcctcgtatcggccag	4	15	9	13	3	1	0	0	0	1	0	4	0	2	0	4	2	3	3	4	2	2	5	rs375758505		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:16528891C>T	ENST00000248070.6	-	11	1114	c.975G>A	c.(973-975)acG>acA	p.T325T	EPS15L1_ENST00000602009.1_Silent_p.T171T|EPS15L1_ENST00000535753.2_Silent_p.T325T|EPS15L1_ENST00000455140.2_Silent_p.T325T|EPS15L1_ENST00000594975.1_Silent_p.T325T|EPS15L1_ENST00000597937.1_Silent_p.T325T	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	325	EH 3. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TTAACTTCCCCGTTTGCCTCG	0.542											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4406		0,0,2203	196	142	160		975	1.1	1	19		160	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EPS15L1	NM_021235.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		325/865	16528891	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"EF-hand domain containing"	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.975G>A	19.37:g.16528891C>T		711	A2RRF3|A5PL29|B4DKA3	Silent	SNP	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.T325	ENST00000248070.6	37	c.975	CCDS32944.1	19																																																																																			EPS15L1	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000127527		0.542	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1	-	0	40	0	C	NM_021235		16528891	-1	tier1	-	no_errors	ENST00000455140	ensembl	human	known	74_37	silent	25.00	21	7	SNP	1.000	T	T	16528891	C	T	16528891	2	4	90	1	0	0	0	0	0	0	0	1	5209	639	23	1		1	EPS15L1	19	16528891	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	610617	16528891	42600092	287	26022											
HAPLN4	404037	genome.wustl.edu	37	chr19	19369505	19369505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgcactgagccgtcgCgcaaccagcccgcgttgcac	7	7	12	15	5	0	1	0	1	0	0	1	1	0	1	3	1	5	5	3	1	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:19369505C>T	ENST00000291481.7	-	4	707	c.644G>A	c.(643-645)cGc>cAc	p.R215H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	215	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	TGAGCCGTCGCGCAACCAGCC	0.746																																																	0													15	17	16					19																	19369505		2185	4240	6425	SO:0001583	missense	0			AB107883	CCDS12398.1	19p13.1	2013-01-11						"Immunoglobulin superfamily / V-set domain containing"	31357	protein-coding gene	gene with protein product	"brain link protein 2"					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.644G>A	19.37:g.19369505C>T	ENSP00000291481:p.Arg215His		A5PKW5|Q96PW2	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.R215H	ENST00000291481.7	37	c.644	CCDS12398.1	19	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410587	0.42715	.	.	ENSG00000187664	ENST00000291481	T	0.08008	3.14	3.97	2.86	0.33363	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.269396	0.29814	N	0.011126	T	0.05914	0.0154	L	0.29908	0.895	0.30169	N	0.801474	B	0.27823	0.19	B	0.30105	0.111	T	0.07309	-1.0779	10	0.56958	D	0.05	-24.348	3.9548	0.09385	0.0:0.6718:0.0:0.3282	.	215	Q86UW8	HPLN4_HUMAN	H	215	ENSP00000291481:R215H	ENSP00000291481:R215H	R	-	2	0	HAPLN4	19230505	0.543000	0.26434	1.000000	0.80357	0.437000	0.31866	1.548000	0.36201	2.055000	0.61198	0.313000	0.20887	CGC	HAPLN4	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000187664		0.746	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	-	0	96	0	C	NM_023002		19369505	-1	tier1	-	no_errors	ENST00000291481	ensembl	human	known	74_37	missense	30.16	44	19	SNP	0.990	T	T	19369505	C	T	19369505	3	4	90	1	0	0	0	0	1	0	0	0	6984	768	27	1	572	1	HAPLN4	19	19369505	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2840614	19369505	39759478	288	26023											
ZNF43	7594	genome.wustl.edu	37	chr19	21990944	21990944	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtaagagttgagaactggTtaaaagctttgccacattct	13	13	9	6	0	1	2	0	1	1	2	1	3	1	2	1	1	3	4	1	1	5	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:21990944T>G	ENST00000354959.4	-	4	2064	c.1895A>C	c.(1894-1896)aAc>aCc	p.N632T	ZNF43_ENST00000594012.1_Missense_Mutation_p.N626T|ZNF43_ENST00000598381.1_Missense_Mutation_p.N626T|ZNF43_ENST00000595461.1_Missense_Mutation_p.N626T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	632					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGAGAACTGGTTAAAAGCTTT	0.373																																																	0													44	46	45					19																	21990944		2201	4296	6497	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1895A>C	19.37:g.21990944T>G	ENSP00000347045:p.Asn632Thr		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N632T	ENST00000354959.4	37	c.1895	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	t	0.007	-1.970483	0.00457	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.38722	1.12	1.21	-2.41	0.06562	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14270	0.0345	N	0.02721	-0.515	0.09310	N	1	B	0.17038	0.02	B	0.24701	0.055	T	0.25187	-1.0139	9	0.06625	T	0.88	.	5.2125	0.15325	0.0:0.1486:0.4733:0.378	.	632	P17038	ZNF43_HUMAN	T	631;632	ENSP00000347045:N632T	ENSP00000347045:N632T	N	-	2	0	ZNF43	21782784	0.000000	0.05858	0.012000	0.15200	0.816000	0.46133	-10.510000	0.00006	-1.416000	0.02019	0.254000	0.18369	AAC	ZNF43	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.373	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	-	0	54	0	T	NM_003423		21990944	-1	tier1	-	no_errors	ENST00000354959	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.001	G	G	21990944	T	G	21990944	3	3	90	1	0	0	0	0	1	0	0	0	17951	1725	60	4	538	4	ZNF43	19	21990944	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	2621439	21990944	37138039	289	26024											
ZNF461	92283	genome.wustl.edu	37	chr19	37130420	37130420	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaggccttcccacattcgTtacattcatagcgtttttca	10	15	5	11	2	2	0	2	0	0	0	4	0	3	0	2	1	2	2	2	1	4	8			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:37130420T>G	ENST00000588268.1	-	6	1054	c.827A>C	c.(826-828)aAc>aCc	p.N276T	ZNF461_ENST00000360357.4_Missense_Mutation_p.N253T|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCCACATTCGTTACATTCATA	0.373																																																	0													57	61	59					19																	37130420		2186	4284	6470	SO:0001583	missense	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"Zinc fingers, C2H2-type", "-"	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.827A>C	19.37:g.37130420T>G	ENSP00000467931:p.Asn276Thr		A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N276T	ENST00000588268.1	37	c.827	CCDS54257.1	19	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627803	0.46944	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	T	0.17054	2.3	3.71	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08626	0.0214	N	0.10945	0.07	0.21184	N	0.999766	B;B;B	0.20164	0.0;0.042;0.001	B;B;B	0.20955	0.0;0.032;0.005	T	0.17592	-1.0364	9	0.49607	T	0.09	.	3.9993	0.09572	0.0:0.113:0.217:0.67	.	253;198;276	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	T	276;7;253;149	ENSP00000353515:N253T	ENSP00000353515:N253T	N	-	2	0	ZNF461	41822260	0.000000	0.05858	1.000000	0.80357	0.945000	0.59286	-2.467000	0.00993	1.679000	0.50963	0.477000	0.44152	AAC	ZNF461	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197808		0.373	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1	-	0	106	0	T	NM_153257		37130420	-1	tier1	-	no_errors	ENST00000588268	ensembl	human	known	74_37	missense	37.84	46	28	SNP	0.947	G	G	37130420	T	G	37130420	3	3	90	1	0	0	0	0	1	0	0	0	17973	1725	60	4	868	4	ZNF461	19	37130420	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	15139476	37130420	21998563	290	26025											
FCGBP	8857	genome.wustl.edu	37	chr19	40368423	40368423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacccatgcagacgtccaGaacacagcccttgaagaagc	14	4	8	15	1	0	4	0	1	0	3	1	4	1	4	4	0	4	1	4	0	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:40368423G>C	ENST00000221347.6	-	28	12932	c.12925C>G	c.(12925-12927)Ctg>Gtg	p.L4309V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4309						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGACGTCCAGAACACAGCCC	0.622																																																	0													131	132	131					19																	40368423		2203	4297	6500	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12925C>G	19.37:g.40368423G>C	ENSP00000221347:p.Leu4309Val		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.L4309V	ENST00000221347.6	37	c.12925	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276584	0.23307	.	.	ENSG00000090920	ENST00000221347	T	0.78003	-1.14	4.08	2.99	0.34606	Uncharacterised domain, cysteine-rich (2);	0.526247	0.16872	U	0.196082	T	0.76407	0.3983	M	0.76002	2.32	0.22666	N	0.998874	P	0.47841	0.901	P	0.49361	0.608	T	0.63651	-0.6589	10	0.19590	T	0.45	.	3.4829	0.07609	0.1958:0.0:0.5894:0.2148	.	4309	Q9Y6R7	FCGBP_HUMAN	V	4309	ENSP00000221347:L4309V	ENSP00000221347:L4309V	L	-	1	2	FCGBP	45060263	0.017000	0.18338	0.644000	0.29465	0.797000	0.45037	2.337000	0.43947	1.003000	0.39130	0.305000	0.20034	CTG	FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.622	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	207	0	G	NM_003890		40368423	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	33.85	86	44	SNP	0.995	C	C	40368423	G	C	40368423	3	2	90	1	0	0	0	0	1	0	0	0	5800	933	33	5	3328	5	FCGBP	19	40368423	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	3238003	40368423	18760560	291	26026											
FCGBP	8857	genome.wustl.edu	37	chr19	40408685	40408685	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacacaggccacacatcTgctggtagtagtttccgggg	8	9	11	13	1	1	0	0	0	1	0	3	0	3	0	3	4	1	4	3	4	2	3	rs61735900	byFrequency	TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:40408685T>A	ENST00000221347.6	-	8	4161	c.4154A>T	c.(4153-4155)cAg>cTg	p.Q1385L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1385	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCACACATCTGCTGGTAGTA	0.567																																																	0								T	LEU/GLN	1,4405		0,1,2202	145	124	131		4154	3.7	1	19	dbSNP_129	131	19,8581	7.1+/-27.0	0,19,4281	no	missense	FCGBP	NM_003890.2	113	0,20,6483	AA,AT,TT		0.2209,0.0227,0.1538	probably-damaging	1385/5406	40408685	20,12986	2203	4300	6503	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4154A>T	19.37:g.40408685T>A	ENSP00000221347:p.Gln1385Leu		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.Q1385L	ENST00000221347.6	37	c.4154	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	T	8.402	0.842279	0.16963	2.27E-4	0.002209	ENSG00000090920	ENST00000221347	T	0.60920	0.15	4.71	3.68	0.42216	von Willebrand factor, type D domain (3);	0.262657	0.30949	N	0.008545	T	0.48857	0.1523	L	0.51853	1.615	0.09310	N	0.999993	B	0.25850	0.136	B	0.24541	0.054	T	0.40572	-0.9556	10	0.41790	T	0.15	.	9.762	0.40537	0.1551:0.0:0.0:0.8449	rs61735900	1385	Q9Y6R7	FCGBP_HUMAN	L	1385	ENSP00000221347:Q1385L	ENSP00000221347:Q1385L	Q	-	2	0	FCGBP	45100525	0.000000	0.05858	0.985000	0.45067	0.120000	0.20174	-0.023000	0.12456	0.649000	0.30751	-0.349000	0.07799	CAG	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.567	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	226	0	T	NM_003890		40408685	-1	tier1	rs61735900	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	16.30	113	22	SNP	0.327	A	A	40408685	T	A	40408685	3	1	90	1	0	0	0	0	1	0	0	0	5800	1580	55	5	12179	5	FCGBP	19	40408685	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	40262	40408685	18720298	292	26027											
FCGBP	8857	genome.wustl.edu	37	chr19	40408702	40408702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgctggtagtagtttccGgggacggtgacccgcacata	8	10	13	10	3	1	1	0	1	1	0	2	2	2	2	2	4	1	5	2	4	3	4	rs111260775	byFrequency	TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:40408702G>A	ENST00000221347.6	-	8	4144	c.4137C>T	c.(4135-4137)ccC>ccT	p.P1379P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1379	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTAGTTTCCGGGGACGGTGA	0.577													G|||	3	0.000599042	0	0	5008	,	,		20862	0.001		0.001	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4137C>T	19.37:g.40408702G>A			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.P1379	ENST00000221347.6	37	c.4137	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0	219	0	G	NM_003890		40408702	-1	tier1	rs111260775	no_errors	ENST00000221347	ensembl	human	known	74_37	silent	15.97	100	19	SNP	0.085	A	A	40408702	G	A	40408702	2	1	90	1	0	0	0	0	0	0	0	1	5800	1103	39	1		1	FCGBP	19	40408702	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	17	40408702	18720281	293	26028											
ZNF677	342926	genome.wustl.edu	37	chr19	53741699	53741699	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagacttccttgaggtcaAaattgttgatgccatggctt	9	13	9	10	0	1	3	1	2	0	1	2	3	2	3	3	2	1	2	3	2	2	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:53741699A>C	ENST00000598513.1	-	5	431	c.281T>G	c.(280-282)tTt>tGt	p.F94C	ZNF677_ENST00000333952.4_Missense_Mutation_p.F94C|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CTTGAGGTCAAAATTGTTGAT	0.358																																																	0													83	79	81					19																	53741699		2203	4299	6502	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.281T>G	19.37:g.53741699A>C	ENSP00000469391:p.Phe94Cys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F94C	ENST00000598513.1	37	c.281	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	A	9.547	1.114891	0.20795	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.08458	3.09	2.2	2.2	0.27929	.	0.236031	0.22194	N	0.063321	T	0.10937	0.0267	L	0.36672	1.1	0.20307	N	0.999916	D	0.76494	0.999	P	0.58454	0.839	T	0.14144	-1.0483	10	0.30854	T	0.27	.	3.9437	0.09339	0.8259:0.0:0.1741:0.0	.	94	Q86XU0	ZN677_HUMAN	C	94	ENSP00000334394:F94C	ENSP00000334394:F94C	F	-	2	0	ZNF677	58433511	0.000000	0.05858	0.435000	0.26784	0.317000	0.28152	0.751000	0.26348	1.264000	0.44198	0.482000	0.46254	TTT	ZNF677	-	NULL	ENSG00000197928		0.358	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0	70	0	A	NM_182609		53741699	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.531	C	C	53741699	A	C	53741699	3	2	90	1	0	0	0	0	1	0	0	0	18132	14	1	4	1477	4	ZNF677	19	53741699	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	13332997	53741699	5387284	294	26029											
ISOC2	79763	genome.wustl.edu	37	chr19	55966410	55966410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcagaatgagcccttcGctggtggagaggaaggcacc	10	6	15	10	1	0	3	0	1	0	2	1	5	0	4	2	4	3	4	2	4	2	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:55966410G>A	ENST00000425675.2	-	5	543	c.483C>T	c.(481-483)agC>agT	p.S161S	ISOC2_ENST00000438389.2_Silent_p.S91S|ISOC2_ENST00000085068.3_Silent_p.S177S			Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	161					protein destabilization (GO:0031648)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		TGAGCCCTTCGCTGGTGGAGA	0.647											OREG0025682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45	43	44					19																	55966410		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027122	CCDS12925.1, CCDS46194.1, CCDS46195.1	19q13.42	2011-07-14			ENSG00000063241	ENSG00000063241			26278	protein-coding gene	gene with protein product		612928				17658461	Standard	NM_024710		Approved	FLJ23469	uc002qla.3	Q96AB3		ENST00000425675.2:c.483C>T	19.37:g.55966410G>A		1011	Q6ZN91|Q9H5G0	Silent	SNP	pfam_Isochorismatase-like,superfamily_Isochorismatase-like	p.S177	ENST00000425675.2	37	c.531	CCDS46195.1	19																																																																																			ISOC2	-	pfam_Isochorismatase-like,superfamily_Isochorismatase-like	ENSG00000063241		0.647	ISOC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ISOC2	HGNC	protein_coding	OTTHUMT00000453179.1	-	0	140	0	G	NM_024710		55966410	-1	tier1	-	no_errors	ENST00000085068	ensembl	human	known	74_37	silent	39.09	67	43	SNP	0.782	A	A	55966410	G	A	55966410	2	1	90	1	0	0	0	0	0	0	0	1	7890	1078	38	1		1	ISOC2	19	55966410	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2224711	55966410	3162573	295	26030											
ZFP28	140612	genome.wustl.edu	37	chr19	57065438	57065438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatgaatgtaagaaaacTtttacccagagctcatctct	14	13	6	8	0	2	3	1	1	1	2	3	3	2	3	1	0	3	3	1	0	6	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:57065438T>C	ENST00000301318.3	+	8	1355	c.1284T>C	c.(1282-1284)acT>acC	p.T428T	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTAAGAAAACTTTTACCCAGA	0.343																																					Ovarian(124;554 1662 19430 21141 52494)												0													59	67	65					19																	57065438		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"Zinc fingers, C2H2-type", "-"	17801	protein-coding gene	gene with protein product			"zinc finger protein 28 homolog (mouse)"				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1284T>C	19.37:g.57065438T>C			A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T428	ENST00000301318.3	37	c.1284	CCDS12946.1	19																																																																																			ZFP28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196867		0.343	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	-	0	49	0	T	NM_020828		57065438	1	tier1	-	no_errors	ENST00000301318	ensembl	human	known	74_37	silent	33.93	37	19	SNP	0.558	C	C	57065438	T	C	57065438	2	2	90	1	0	0	0	0	0	0	0	1	17690	1596	56	4		4	ZFP28	19	57065438	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	1099028	57065438	2063545	296	26031											
ZNF329	79673	genome.wustl.edu	37	chr19	58640829	58640829	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttctacatcacagggtacTtctctctcaggaaaattccg	11	12	6	12	1	4	0	2	0	3	0	7	1	5	1	1	2	2	1	1	2	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:58640829T>G	ENST00000598312.1	-	4	275	c.42A>C	c.(40-42)gaA>gaC	p.E14D	ZNF329_ENST00000358067.4_Missense_Mutation_p.E14D	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	14					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CACAGGGTACTTCTCTCTCAG	0.418																																																	0													143	144	144					19																	58640829		2203	4300	6503	SO:0001583	missense	0			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"Zinc fingers, C2H2-type"	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.42A>C	19.37:g.58640829T>G	ENSP00000470008:p.Glu14Asp		B3KR32|Q9H9R7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E14D	ENST00000598312.1	37	c.42	CCDS12972.1	19	.	.	.	.	.	.	.	.	.	.	T	7.142	0.581933	0.13749	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.09538	2.97;2.97	4.58	3.56	0.40772	.	0.860680	0.09837	N	0.749426	T	0.06917	0.0176	L	0.27053	0.805	0.21064	N	0.999798	P	0.34522	0.455	B	0.30105	0.111	T	0.35895	-0.9770	10	0.18276	T	0.48	-3.7738	6.8925	0.24236	0.0:0.1017:0.0:0.8983	.	14	Q86UD4	ZN329_HUMAN	D	14	ENSP00000350773:E14D;ENSP00000439527:E14D	ENSP00000350773:E14D	E	-	3	2	ZNF329	63332641	0.001000	0.12720	0.034000	0.17996	0.021000	0.10359	0.502000	0.22594	1.078000	0.41014	0.533000	0.62120	GAA	ZNF329	-	NULL	ENSG00000181894		0.418	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	-	0	33	0	T	NM_024620		58640829	-1	tier1	-	no_errors	ENST00000358067	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.684	G	G	58640829	T	G	58640829	3	3	90	1	0	0	0	0	1	0	0	0	17895	1606	56	4	1587	4	ZNF329	19	58640829	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	1575391	58640829	488154	297	26032											
ZNF497	162968	genome.wustl.edu	37	chr19	58867516	58867516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcgggtcagggcgcagCgcggcccccgtgccgcttct	2	7	15	17	6	2	0	1	0	1	0	4	0	3	0	4	3	2	2	4	3	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr19:58867516C>T	ENST00000311044.3	-	3	1674	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	A1BG-AS1_ENST00000593374.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.A496T|A1BG-AS1_ENST00000593960.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CAGGGCGCAGCGCGGCCCCCG	0.692																																																	0													15	16	15					19																	58867516		2147	4207	6354	SO:0001583	missense	0			AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"Zinc fingers, C2H2-type"	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1486G>A	19.37:g.58867516C>T	ENSP00000311183:p.Ala496Thr		Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A496T	ENST00000311044.3	37	c.1486	CCDS12977.1	19	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.267338	0.01433	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.06768	3.26;3.26	1.01	-2.02	0.07388	Zinc finger, C2H2 (1);	.	.	.	.	T	0.03651	0.0104	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38286	-0.9668	9	0.72032	D	0.01	.	4.7318	0.12968	0.1963:0.5773:0.0:0.2264	.	496	Q6ZNH5	ZN497_HUMAN	T	496	ENSP00000311183:A496T;ENSP00000402815:A496T	ENSP00000311183:A496T	A	-	1	0	ZNF497	63559328	0.000000	0.05858	0.000000	0.03702	0.515000	0.34225	-1.027000	0.03592	-1.815000	0.01222	-1.076000	0.02234	GCT	ZNF497	-	pfscan_Znf_C2H2	ENSG00000174586		0.692	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF497	HGNC	protein_coding	OTTHUMT00000466942.2	-	0	34	0	C	NM_198458		58867516	-1	tier1	-	no_errors	ENST00000311044	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.001	T	T	58867516	C	T	58867516	3	4	90	1	0	0	0	0	1	0	0	0	17994	768	27	1	14	1	ZNF497	19	58867516	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	226687	58867516	261467	298	26033											
STK35	140901	genome.wustl.edu	37	chr20	2097969	2097969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctaacccacaggaccGgcctgatgcctttgaacttg	9	9	10	13	1	0	2	0	2	0	0	0	3	0	3	4	2	5	2	4	2	2	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:2097969G>T	ENST00000381482.3	+	3	1821	c.1550G>T	c.(1549-1551)cGg>cTg	p.R517L	STK35_ENST00000246032.3_Missense_Mutation_p.R384L|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	517	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCACAGGACCGGCCTGATGCC	0.473																																																	0													82	76	78					20																	2097969		2203	4300	6503	SO:0001583	missense	0			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1550G>T	20.37:g.2097969G>T	ENSP00000370891:p.Arg517Leu		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R517L	ENST00000381482.3	37	c.1550	CCDS13024.2	20	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636455	0.87760	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.99264	-5.65;-5.65	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	M	0.86805	2.84	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98703	1.0701	10	0.87932	D	0	-12.6477	16.94	0.86215	0.0:0.0:1.0:0.0	.	517	Q8TDR2	STK35_HUMAN	L	517;384	ENSP00000370891:R517L;ENSP00000246032:R384L	ENSP00000246032:R384L	R	+	2	0	STK35	2045969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	CGG	STK35	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125834		0.473	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK35	HGNC	protein_coding	OTTHUMT00000077574.3	-	0	47	0	G	NM_080836		2097969	1	tier1	-	no_errors	ENST00000381482	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	2097969	G	T	2097969	3	4	90	1	0	0	0	0	1	0	0	0	15348	1116	39	2	1560	2	STK35	20	2097969	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		2097969	60927551	299	26034											
CST8	10047	genome.wustl.edu	37	chr20	23473636	23473636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttattgatgtagaaattgcCcgcagcgattgcagaaagcc	12	10	10	9	2	0	3	0	1	0	2	0	4	0	3	2	0	4	3	2	0	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:23473636C>T	ENST00000246012.1	+	3	630	c.273C>T	c.(271-273)gcC>gcT	p.A91A		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	91					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TAGAAATTGCCCGCAGCGATT	0.378																																																	0													146	156	152					20																	23473636		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.273C>T	20.37:g.23473636C>T			Q2M2X6	Silent	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.A91	ENST00000246012.1	37	c.273	CCDS13156.1	20																																																																																			CST8	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000125815		0.378	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST8	HGNC	protein_coding	OTTHUMT00000078336.1	-	0	46	0	C			23473636	1	tier1	-	no_errors	ENST00000246012	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.927	T	T	23473636	C	T	23473636	2	4	90	1	0	0	0	0	0	0	0	1	3987	610	22	3		3	CST8	20	23473636	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	21375667	23473636	39551884	300	26035											
PYGB	5834	genome.wustl.edu	37	chr20	25260915	25260915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctaggcctgggaaatcaCgaagaagacctgtgcataca	13	6	12	10	1	1	2	1	0	0	2	1	4	1	3	3	3	2	1	3	3	5	2	rs201517237		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:25260915C>T	ENST00000216962.4	+	10	1216	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	369					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						TGGGAAATCACGAAGAAGACC	0.562																																																	0								C	MET/THR	0,4406		0,0,2203	125	113	117		1106	3.8	1	20		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	PYGB	NM_002862.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	369/844	25260915	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"Glycogen phosphorylases"	9723	protein-coding gene	gene with protein product	"glycogen phosphorylase, brain form"	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1106C>T	20.37:g.25260915C>T	ENSP00000216962:p.Thr369Met		Q96AK1|Q9NPX8	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.T369M	ENST00000216962.4	37	c.1106	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594739	0.66219	0.0	1.16E-4	ENSG00000100994	ENST00000216962	D	0.94376	-3.41	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	D	0.97657	0.9232	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.99094	1.0841	10	0.87932	D	0	-24.3465	15.908	0.79445	0.0:1.0:0.0:0.0	.	369	P11216	PYGB_HUMAN	M	369	ENSP00000216962:T369M	ENSP00000216962:T369M	T	+	2	0	PYGB	25208915	0.992000	0.36948	1.000000	0.80357	0.832000	0.47134	3.026000	0.49689	2.144000	0.66660	0.462000	0.41574	ACG	PYGB	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100994		0.562	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	-	0	49	0	C	NM_002862		25260915	1	tier1	rs201517237	no_errors	ENST00000216962	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T	T	25260915	C	T	25260915	3	4	90	1	0	0	0	0	1	0	0	0	12905	536	19	1	1144	1	PYGB	20	25260915	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	1787279	25260915	37764605	301	26036											
MYLK2	85366	genome.wustl.edu	37	chr20	30414661	30414661	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actaccatctgaccgaggtgGacaccatggtgtttgtcagg	9	10	12	10	1	2	1	1	1	1	0	2	3	2	2	3	4	1	1	3	4	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:30414661G>C	ENST00000375994.2	+	7	1417	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.D382H			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	382	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GACCGAGGTGGACACCATGGT	0.577																																																	0													157	124	135					20																	30414661		2203	4300	6503	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1144G>C	20.37:g.30414661G>C	ENSP00000365162:p.Asp382His		Q569L1|Q96I84	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D382H	ENST00000375994.2	37	c.1144	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007489	0.75046	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.66099	-0.19;-0.19	3.66	3.66	0.41972	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.70535	0.3235	L	0.39514	1.22	0.80722	D	1	D	0.65815	0.995	D	0.71184	0.972	T	0.74785	-0.3547	9	0.87932	D	0	.	14.5797	0.68278	0.0:0.0:1.0:0.0	.	382	Q9H1R3	MYLK2_HUMAN	H	382	ENSP00000365162:D382H;ENSP00000365152:D382H	ENSP00000365152:D382H	D	+	1	0	MYLK2	29878322	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.494000	0.97962	1.882000	0.54519	0.435000	0.28638	GAC	MYLK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000101306		0.577	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	HGNC	protein_coding	OTTHUMT00000078583.2	-	0	58	0	G	NM_033118		30414661	1	tier1	-	no_errors	ENST00000375985	ensembl	human	known	74_37	missense	27.14	51	19	SNP	1.000	C	C	30414661	G	C	30414661	3	2	90	1	0	0	0	0	1	0	0	0	10095	1174	41	5	1170	5	MYLK2	20	30414661	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	5153746	30414661	32610859	302	26037											
C20orf160	140706	genome.wustl.edu	37	chr20	30605787	30605787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcccctccctgcagcagctGaaggagctgccgctgaagac	8	6	12	15	1	0	3	0	2	0	1	1	4	1	4	4	1	6	5	4	1	2	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:30605787G>A	ENST00000300415.8	+	4	301	c.288G>A	c.(286-288)ctG>ctA	p.L96L	CCM2L_ENST00000262659.8_Silent_p.L96L			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	96																	TGCAGCAGCTGAAGGAGCTGC	0.637																																																	0													30	32	31					20																	30605787		2202	4300	6502	SO:0001819	synonymous_variant	0			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 160"	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.288G>A	20.37:g.30605787G>A			Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	NULL	p.L96	ENST00000300415.8	37	c.288		20																																																																																			CCM2L	-	NULL	ENSG00000101331		0.637	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	CCM2L	HGNC	protein_coding		-	0	34	0	G	NM_080625		30605787	1	tier1	-	no_errors	ENST00000300415	ensembl	human	known	74_37	silent	22.81	44	13	SNP	1.000	A	A	30605787	G	A	30605787	2	1	90	1	0	0	0	0	0	0	0	1	2100	1277	45	3		3	C20orf160	20	30605787	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	191126	30605787	32419733	303	26038											
RALY	22913	genome.wustl.edu	37	chr20	32661373	32661373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccctccacacagacatCaacatggctggagagcctaa	12	8	7	14	0	2	2	1	0	1	2	4	3	3	2	3	2	2	1	3	2	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:32661373C>T	ENST00000246194.3	+	4	763	c.261C>T	c.(259-261)atC>atT	p.I87I	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Silent_p.I87I	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	87	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						ACACAGACATCAACATGGCTG	0.522																																																	0													158	128	138					20																	32661373		2203	4300	6503	SO:0001819	synonymous_variant	0			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.261C>T	20.37:g.32661373C>T			Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.I87	ENST00000246194.3	37	c.261	CCDS13230.1	20																																																																																			RALY	-	smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	ENSG00000125970		0.522	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	-	0	41	0	C			32661373	1	tier1	-	no_errors	ENST00000246194	ensembl	human	known	74_37	silent	36.51	40	23	SNP	1.000	T	T	32661373	C	T	32661373	2	4	90	1	0	0	0	0	0	0	0	1	13064	816	29	3		3	RALY	20	32661373	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2055586	32661373	30364147	304	26039											
RALY	22913	genome.wustl.edu	37	chr20	32663702	32663702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcgactaccggggccgtCtgtcgcccgtgccagtgccc	3	9	12	17	5	2	0	0	0	2	0	4	1	2	0	5	2	3	0	5	2	1	2	rs368442158		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:32663702C>G	ENST00000246194.3	+	6	902	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	RALY_ENST00000493399.1_3'UTR|RALY_ENST00000375114.3_Missense_Mutation_p.L118V	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	134					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CCGGGGCCGTCTGTCGCCCGT	0.632																																																	0								C	VAL/LEU,VAL/LEU	1,4405	2.1+/-5.4	0,1,2202	26	25	25		400,352	3.1	1	20		25	0,8598		0,0,4299	no	missense,missense	RALY	NM_016732.2,NM_007367.3	32,32	0,1,6501	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	134/307,118/291	32663702	1,13003	2203	4299	6502	SO:0001583	missense	0			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"RNA binding motif (RRM) containing"	15921	protein-coding gene	gene with protein product		614663	"RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)", "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.400C>G	20.37:g.32663702C>G	ENSP00000246194:p.Leu134Val		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.L134V	ENST00000246194.3	37	c.400	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	C	4.443	0.081959	0.08533	2.27E-4	0.0	ENSG00000125970	ENST00000375114;ENST00000448364;ENST00000246194;ENST00000333552;ENST00000442805	T;T;T;T;T	0.14266	3.36;3.32;3.46;2.52;3.36	5.06	3.14	0.36123	.	0.072557	0.52532	D	0.000067	T	0.03220	0.0094	N	0.00815	-1.16	0.30756	N	0.744609	B;B	0.21452	0.056;0.056	B;B	0.23716	0.048;0.016	T	0.35674	-0.9779	10	0.07482	T	0.82	-3.2176	6.2875	0.21041	0.0:0.5654:0.2612:0.1734	.	118;134	Q9UKM9-2;Q9UKM9	.;RALY_HUMAN	V	118;134;134;68;118	ENSP00000364255:L118V;ENSP00000413638:L134V;ENSP00000246194:L134V;ENSP00000327522:L68V;ENSP00000415973:L118V	ENSP00000246194:L134V	L	+	1	2	RALY	32127363	1.000000	0.71417	0.984000	0.44739	0.769000	0.43574	2.334000	0.43920	0.734000	0.32515	0.460000	0.39030	CTG	RALY	-	pirsf_hnRNP_C_Raly	ENSG00000125970		0.632	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	-	0	87	0	C			32663702	1	tier1	-	no_errors	ENST00000246194	ensembl	human	known	74_37	missense	24.44	68	22	SNP	1.000	G	G	32663702	C	G	32663702	3	3	90	1	0	0	0	0	1	0	0	0	13064	912	32	5	414	5	RALY	20	32663702	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2329	32663702	30361818	305	26040											
ATP9A	10079	genome.wustl.edu	37	chr20	50245527	50245527	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcacacttacctcttcctCcaaccagtcattgtactgca	10	12	3	16	0	3	0	2	0	1	0	5	0	5	0	4	0	4	2	4	0	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:50245527C>A	ENST00000338821.5	-	16	2017	c.1753G>T	c.(1753-1755)Gag>Tag	p.E585*	ATP9A_ENST00000402822.1_Nonsense_Mutation_p.E464*|ATP9A_ENST00000311637.5_Nonsense_Mutation_p.E449*	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	585					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E585K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCTCTTCCTCCAACCAGTCA	0.488																																																	1	Substitution - Missense(1)	lung(1)											231	188	202					20																	50245527		2203	4300	6503	SO:0001587	stop_gained	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"ATPases / P-type"	13540	protein-coding gene	gene with protein product		609126	"ATPase, Class II, type 9A"			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1753G>T	20.37:g.50245527C>A	ENSP00000342481:p.Glu585*		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.E585*	ENST00000338821.5	37	c.1753	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	C	42	9.682786	0.99237	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-30.182	18.7535	0.91823	0.0:1.0:0.0:0.0	.	.	.	.	X	449;585;464	.	ENSP00000309086:E449X	E	-	1	0	ATP9A	49678934	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.619000	0.83057	2.405000	0.81733	0.655000	0.94253	GAG	ATP9A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000054793		0.488	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0	80	0	C	NM_006045		50245527	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	nonsense	31.58	39	18	SNP	1.000	A	A	50245527	C	A	50245527	4	1	90	1	0	0	0	0	0	1	0	0	1199	864	30	3	1442	3	ATP9A	20	50245527	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	17581825	50245527	12779993	306	26041											
TFAP2C	7022	genome.wustl.edu	37	chr20	55204645	55204645	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaagtacgaagaggactgCgaggtgagctggggctccgg	9	6	18	8	3	1	2	1	1	0	1	2	5	2	3	1	5	3	3	1	5	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:55204645C>T	ENST00000201031.2	+	1	288	c.45C>T	c.(43-45)tgC>tgT	p.C15C	TFAP2C_ENST00000544508.1_5'Flank	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	15					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AAGAGGACTGCGAGGTGAGCT	0.652																																																	0													42	45	44					20																	55204645		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"estrogen receptor factor 1"	601602	"transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.45C>T	20.37:g.55204645C>T			B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_gamma	p.C15	ENST00000201031.2	37	c.45	CCDS13454.1	20																																																																																			TFAP2C	-	NULL	ENSG00000087510		0.652	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2C	HGNC	protein_coding	OTTHUMT00000079823.2	-	0	146	0	C	NM_003222		55204645	1	tier1	-	no_errors	ENST00000201031	ensembl	human	known	74_37	silent	16.89	122	25	SNP	1.000	T	T	55204645	C	T	55204645	2	4	90	1	0	0	0	0	0	0	0	1	15836	776	27	1		1	TFAP2C	20	55204645	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	4959118	55204645	7820875	307	26042											
GNAS	2778	genome.wustl.edu	37	chr20	57480483	57480483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggaggatgaaggagtgCgtgcctgctacgaacgctcc	8	8	16	9	3	0	1	0	1	0	0	1	5	1	4	2	3	5	2	2	3	3	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:57480483C>T	ENST00000371085.3	+	6	902	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	GNAS_ENST00000371102.4_Missense_Mutation_p.R789C|GNAS_ENST00000371095.3_Missense_Mutation_p.R146C|GNAS_ENST00000371100.4_Missense_Mutation_p.R803C|GNAS_ENST00000265620.7_Missense_Mutation_p.R145C|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.R161C|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.R146C	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	160					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAAGGAGTGCGTGCCTGCTA	0.468			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0			GRCh37	CM002273	GNAS	M							130	116	121					20																	57480483		2203	4300	6503	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.478C>T	20.37:g.57480483C>T	ENSP00000360126:p.Arg160Cys		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R161C	ENST00000371085.3	37	c.481	CCDS13472.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.84|18.84	3.708344|3.708344	0.68615|0.68615	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371100;ENST00000371102;ENST00000349036;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090	.|D;D;D;D;D;D;D;D	.|0.89681	.|-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.93|5.93	4.93|4.93	0.64822|0.64822	.|G protein alpha subunit, helical insertion (4);	.|0.247996	.|0.39687	.|N	.|0.001291	D|D	0.82504|0.82504	0.5051|0.5051	L|L	0.51422|0.51422	1.61|1.61	0.51012|0.51012	D|D	0.999907|0.999907	.|B;B;B;P	.|0.46656	.|0.013;0.003;0.001;0.882	.|B;B;B;B	.|0.32762	.|0.004;0.004;0.002;0.152	D|D	0.84965|0.84965	0.0879|0.0879	5|10	.|0.87932	.|D	.|0	.|.	11.2577|11.2577	0.49063|0.49063	0.341:0.659:0.0:0.0|0.341:0.659:0.0:0.0	.|.	.|160;161;145;803	.|P63092;A6NI00;P63092-3;Q5JWF2	.|GNAS2_HUMAN;.;.;GNAS1_HUMAN	V|C	174|803;789;177;146;160;161;145;146	.|ENSP00000360141:R803C;ENSP00000360143:R789C;ENSP00000265621:R177C;ENSP00000360136:R146C;ENSP00000360126:R160C;ENSP00000346328:R161C;ENSP00000265620:R145C;ENSP00000304472:R146C	.|ENSP00000265620:R145C	A|R	+|+	2|1	0|0	GNAS|GNAS	56913878|56913878	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.450000|0.450000	0.32258|0.32258	3.690000|3.690000	0.54713|0.54713	2.814000|2.814000	0.96858|0.96858	0.655000|0.655000	0.94253|0.94253	GCG|CGT	GNAS	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su	ENSG00000087460		0.468	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	-	0	71	0	C	NM_000516		57480483	1	tier1	-	no_errors	ENST00000354359	ensembl	human	known	74_37	missense	35.29	55	30	SNP	0.998	T	T	57480483	C	T	57480483	3	4	90	1	0	0	0	0	1	0	0	0	6536	768	27	1	3317	1	GNAS	20	57480483	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2275838	57480483	5545037	308	26043											
CDH4	1002	genome.wustl.edu	37	chr20	60348099	60348099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggctctggacccctctcCgcctccgaaggacaccctgc	5	7	10	19	3	2	0	0	0	2	0	4	3	3	2	6	3	1	1	6	3	1	0			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr20:60348099C>T	ENST00000360469.5	+	4	525	c.437C>T	c.(436-438)cCg>cTg	p.P146L	CDH4_ENST00000543233.1_Missense_Mutation_p.P72L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	146					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACCCCTCTCCGCCTCCGAAG	0.607																																																	0													40	38	39					20																	60348099		2203	4300	6503	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.437C>T	20.37:g.60348099C>T	ENSP00000353656:p.Pro146Leu		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.P146L	ENST00000360469.5	37	c.437	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	9.989	1.230318	0.22542	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54675	0.56;0.57	4.84	-2.6	0.06190	Cadherin-like (1);	0.612407	0.16364	N	0.217658	T	0.24198	0.0586	N	0.08118	0	0.20975	N	0.999812	B	0.26318	0.146	B	0.13407	0.009	T	0.19031	-1.0318	9	.	.	.	.	9.9941	0.41889	0.3581:0.5335:0.0:0.1084	.	146	P55283	CADH4_HUMAN	L	146;54;72	ENSP00000353656:P146L;ENSP00000443301:P72L	.	P	+	2	0	CDH4	59781494	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.273000	0.18662	-0.381000	0.07882	0.655000	0.94253	CCG	CDH4	-	superfamily_Cadherin-like	ENSG00000179242		0.607	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	55	0	C	NM_001794		60348099	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	38.18	33	21	SNP	0.321	T	T	60348099	C	T	60348099	3	4	90	1	0	0	0	0	1	0	0	0	3119	652	23	1	451	1	CDH4	20	60348099	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2867616	60348099	2677421	309	26044											
TPTE	7179	genome.wustl.edu	37	chr21	10916467	10916468	+	Frame_Shift_Del	DEL	AT	AT	-																															acttgtgcaaaatatgcaacAtatctcttctgaaaagcaac																								rs146018947		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr21:10916467_10916468delAT	ENST00000361285.4	-	20	1507_1508	c.1178_1179delAT	c.(1177-1179)tatfs	p.Y393fs	TPTE_ENST00000298232.7_Frame_Shift_Del_p.Y375fs|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000342420.5_Frame_Shift_Del_p.Y355fs	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	393	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATATGCAACATATCTCTTCTG	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1178_1179delAT	21.37:g.10916469_10916470delAT	ENSP00000355208:p.Tyr393fs		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y393fs	ENST00000361285.4	37	c.1179_1178	CCDS13560.2	21																																																																																			TPTE	-	pfscan_Phosphatase_tensin-typ	ENSG00000166157		0.342	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1		0	315	0	AT			10916468	-1			no_errors	ENST00000361285	ensembl	human	known	74_37	frame_shift_del	9.80	184	20	DEL	0.982:0.984	0	-	10916468	AT	-	10916467	7	5	90	1	0	1	0	1	0	0	0	0	16478	224	8	0	496	0	TPTE	21	10916467	Frame_Shift_Del	DEL	AT	TCGA-L5-A8NR-01A-11D-A37C-09		10916467	37213428	310	26045											
TMPRSS15	5651	genome.wustl.edu	37	chr21	19775826	19775826	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgattgtcaggcaggaTactgcaattaatccagcaca	12	11	8	10	0	1	1	1	1	0	0	3	2	3	2	2	2	3	3	2	2	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr21:19775826T>C	ENST00000284885.3	-	1	147	c.114A>G	c.(112-114)gtA>gtG	p.V38V		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	38						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCAGGCAGGATACTGCAATTA	0.448																																																	0													149	135	139					21																	19775826		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.114A>G	21.37:g.19775826T>C			Q2NKL7	Silent	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.V38	ENST00000284885.3	37	c.114	CCDS13571.1	21																																																																																			TMPRSS15	-	NULL	ENSG00000154646		0.448	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	HGNC	protein_coding	OTTHUMT00000158231.2	-	0	57	0	T	NM_002772		19775826	-1	tier1	-	no_errors	ENST00000284885	ensembl	human	known	74_37	silent	40.00	24	16	SNP	0.947	C	C	19775826	T	C	19775826	2	2	90	1	0	0	0	0	0	0	0	1	16293	1393	49	4		4	TMPRSS15	21	19775826	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	8859359	19775826	28354069	311	26046											
SFRS15	57466	genome.wustl.edu	37	chr21	33043955	33043958	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															tcttccttctctctacgagaCtctctatctctagaatctct																								rs142270458		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	CTCT	CTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr21:33043955_33043958delCTCT	ENST00000286835.7	-	20	3580_3583	c.3198_3201delAGAG	c.(3196-3201)agagagfs	p.RE1066fs	SCAF4_ENST00000434667.3_Frame_Shift_Del_p.RE1051fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.RE1044fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1066						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTCTACGAGACTCTCTATCTCTAG	0.529																																																	0																																										SO:0001589	frameshift_variant	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"RNA binding motif (RRM) containing"	19304	protein-coding gene	gene with protein product			"splicing factor, arginine/serine-rich 15"	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.3198_3201delAGAG	21.37:g.33043955_33043958delCTCT	ENSP00000286835:p.Arg1066fs		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Frame_Shift_Del	DEL	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom	p.R1066fs	ENST00000286835.7	37	c.3201_3198	CCDS33537.1	21																																																																																			SCAF4	-	NULL	ENSG00000156304		0.529	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1		0	43	0	CTCT	XM_047889		33043958	-1	tier1		no_errors	ENST00000286835	ensembl	human	known	74_37	frame_shift_del	40.00	12	8	DEL	0.915:1.000:1.000:1.000	-	-	33043958	CTCT	-	33043955	7	5	90	1	0	1	0	1	0	0	0	0	14216	564	20	0	246	0	SFRS15	21	33043955	Frame_Shift_Del	DEL	CTCT	TCGA-L5-A8NR-01A-11D-A37C-09	13268129	33043955	15085940	312	26047											
GCFC1	94104	genome.wustl.edu	37	chr21	34132172	34132173	+	Frame_Shift_Ins	INS	-	-	T																															gaaagggactgtattatctgINSttttttgagatttggcatct																										TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr21:34132172_34132173insT	ENST00000331923.4	-	6	1297_1298	c.1108_1109insA	c.(1108-1110)acafs	p.T370fs	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	370					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTATTATCTGTTTTTTGAGAT	0.406																																																	0																																										SO:0001589	frameshift_variant	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1109dupA	21.37:g.34132178_34132178dupT	ENSP00000328992:p.Thr370fs		D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Ins	INS	pfam_GCFC_dom	p.T370fs	ENST00000331923.4	37	c.1109_1108	CCDS13619.1	21																																																																																			PAXBP1	-	NULL	ENSG00000159086		0.406	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1		0	72	0	-	NM_013329		34132173	-1	tier1		no_errors	ENST00000331923	ensembl	human	known	74_37	frame_shift_ins	30.00	35	15	INS	1.000:0.930	T	T	34132173	-	T	34132172	7	5	90	1	0	1	1	0	0	0	0	0	6314	1377	48	0	1814	0	GCFC1	21	34132172	Frame_Shift_Ins	INS	-	TCGA-L5-A8NR-01A-11D-A37C-09	1088217	34132172	13997723	313	26048											
FTCD	10841	genome.wustl.edu	37	chr21	47557244	47557244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccagggctttggccGccacctgcaaggaccccagg	7	6	11	17	1	1	0	0	0	1	0	2	1	1	1	7	4	1	2	7	4	1	1	rs145609043		TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr21:47557244G>A	ENST00000291670.5	-	13	1491	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V|FTCD_ENST00000397748.1_Missense_Mutation_p.A483V|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000397743.1_Silent_p.G468G	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	483	Cyclodeaminase/cyclohydrolase. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGCTTTGGCCGCCACCTGCAA	0.597													G|||	1	0.000199681	0	0	5008	,	,		18300	0		0.001	False		,,,				2504	0																0								G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	90	87	88		1448,1448	4.1	1	21	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	FTCD	NM_006657.2,NM_206965.1	64,64	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging	483/542,483/542	47557244	3,13003	2203	4300	6503	SO:0001583	missense	0			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.1448C>T	21.37:g.47557244G>A	ENSP00000291670:p.Ala483Val		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.A483V	ENST00000291670.5	37	c.1448	CCDS13731.1	21	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	19.52|19.52	3.843774|3.843774	0.71488|0.71488	0.0|0.0	3.49E-4|3.49E-4	ENSG00000160282|ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000397746|ENST00000446405	T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33|.	4.12|4.12	4.12|4.12	0.48240|0.48240	Cyclodeaminase/cyclohydrolase (2);|.	0.126274|.	0.52532|.	U|.	0.000077|.	T|T	0.80654|0.80654	0.4664|0.4664	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	P;D|.	0.64776|.	0.834;0.929|.	D|D	0.85232|0.85232	0.1033|0.1033	10|5	0.87932|.	D|.	0|.	-7.8491|-7.8491	13.3068|13.3068	0.60357|0.60357	0.0:0.1728:0.8272:0.0|0.0:0.1728:0.8272:0.0	.|.	483;483|.	O95954-2;O95954|.	.;FTCD_HUMAN|.	V|W	483|24	ENSP00000291670:A483V;ENSP00000380856:A483V;ENSP00000352707:A483V;ENSP00000380854:A483V|.	ENSP00000291670:A483V|.	A|R	-|-	2|1	0|2	FTCD|FTCD	46381672|46381672	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.897000|0.897000	0.52465|0.52465	3.380000|3.380000	0.52448|0.52448	1.842000|1.842000	0.53543|0.53543	0.455000|0.455000	0.32223|0.32223	GCG|CGG	FTCD	-	pfam_Cyclodeamin/CycHdrlase,superfamily_Cyclodeamin/CycHdrlase	ENSG00000160282		0.597	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1		0	48	0	G	NM_006657		47557244	-1			no_errors	ENST00000359679	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.996	A	A	47557244	G	A	47557244	3	1	90	1	0	0	0	0	1	0	0	0	6105	1087	38	1	185	1	FTCD	21	47557244	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	13425072	47557244	572651	314	26049											
PCNT	5116	genome.wustl.edu	37	chr21	47746346	47746346	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttcgcattcggagaaaaAgacggcgaagaggaagggct	14	5	15	7	4	0	3	0	0	0	3	2	6	0	4	0	4	0	3	0	4	4	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr21:47746346A>G	ENST00000359568.5	+	2	217	c.110A>G	c.(109-111)aAg>aGg	p.K37R	C21orf58_ENST00000291691.7_5'Flank|C21orf58_ENST00000397680.1_5'Flank|C21orf58_ENST00000397682.3_5'Flank|PCNT_ENST00000480896.1_3'UTR|C21orf58_ENST00000397685.4_5'Flank	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	37					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.K37R(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCGGAGAAAAAGACGGCGAAG	0.512																																																	1	Substitution - Missense(1)	lung(1)											89	77	81					21																	47746346		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.110A>G	21.37:g.47746346A>G	ENSP00000352572:p.Lys37Arg		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.K37R	ENST00000359568.5	37	c.110	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553396	0.86127	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.03386	3.95	5.18	4.02	0.46733	.	0.000000	0.33813	N	0.004525	T	0.12603	0.0306	L	0.59436	1.845	0.29830	N	0.830103	D	0.89917	1.0	D	0.69654	0.965	T	0.01228	-1.1412	10	0.46703	T	0.11	.	11.5502	0.50716	0.8402:0.1598:0.0:0.0	.	37	O95613	PCNT_HUMAN	R	37	ENSP00000352572:K37R	ENSP00000338675:K37R	K	+	2	0	PCNT	46570774	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.082000	0.64450	0.793000	0.33875	0.379000	0.24179	AAG	PCNT	-	NULL	ENSG00000160299		0.512	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0	52	0	A	NM_006031		47746346	1			no_errors	ENST00000359568	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	G	G	47746346	A	G	47746346	3	3	90	1	0	0	0	0	1	0	0	0	11629	72	3	4	116	4	PCNT	21	47746346	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	189102	47746346	383549	315	26050											
HIRA	7290	genome.wustl.edu	37	chr22	19384325	19384325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcatcaaaaggcttGgtgatgctggtctccaactg	9	12	9	11	0	3	1	2	1	1	0	4	1	3	1	2	3	3	2	2	3	4	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr22:19384325G>T	ENST00000263208.5	-	7	895	c.639C>A	c.(637-639)acC>acA	p.T213T	HIRA_ENST00000340170.4_Silent_p.T213T|HIRA_ENST00000546308.1_Silent_p.T169T|HIRA_ENST00000464189.1_5'Flank|HIRA_ENST00000541063.1_Silent_p.T169T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	213					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T213T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CAAAAGGCTTGGTGATGCTGG	0.567																																																	1	Substitution - coding silent(1)	lung(1)											86	78	81					22																	19384325		2203	4300	6503	SO:0001819	synonymous_variant	0			X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"WD repeat domain containing"	4916	protein-coding gene	gene with protein product	"DiGeorge critical region gene 1"	600237	"HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)", "HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.639C>A	22.37:g.19384325G>T			Q05BU9|Q8IXN2	Silent	SNP	pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T213	ENST00000263208.5	37	c.639	CCDS13759.1	22																																																																																			HIRA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000100084		0.567	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRA	HGNC	protein_coding	OTTHUMT00000316488.2	-	0	70	0	G	NM_003325		19384325	-1	tier1	-	no_errors	ENST00000263208	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.998	T	T	19384325	G	T	19384325	2	4	90	1	0	0	0	0	0	0	0	1	7147	1335	47	3		3	HIRA	22	19384325	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09		19384325	31920241	316	26051											
PRAME	23532	genome.wustl.edu	37	chr22	22890683	22890683	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggatgtcctcataactctCcagggggacaggatacagca	12	8	11	10	0	2	0	1	0	1	0	4	3	3	3	2	4	3	1	2	4	2	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr22:22890683C>A	ENST00000398741.1	-	6	1642	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000402697.1_Nonsense_Mutation_p.E446*|PRAME_ENST00000543184.1_Nonsense_Mutation_p.E446*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.E430*|PRAME_ENST00000424204.2_Nonsense_Mutation_p.E430*|PRAME_ENST00000398743.2_Nonsense_Mutation_p.E446*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.E446*	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	446	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCATAACTCTCCAGGGGGACA	0.572																																					Melanoma(73;1707 1838 15168 27201)												0													104	88	93					22																	22890683		2203	4300	6503	SO:0001587	stop_gained	0			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"-"	9336	protein-coding gene	gene with protein product	"cancer/testis antigen 130"	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1336G>T	22.37:g.22890683C>A	ENSP00000381726:p.Glu446*		B2R6Y7|O43481|Q8IXN8	Nonsense_Mutation	SNP	NULL	p.E446*	ENST00000398741.1	37	c.1336	CCDS13801.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.285799	0.95517	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	.	.	.	3.7	3.7	0.42460	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.7504	0.62904	0.0:1.0:0.0:0.0	.	.	.	.	X	446;446;446;446;430;446;430	.	ENSP00000381726:E446X	E	-	1	0	PRAME	21220683	1.000000	0.71417	0.903000	0.35520	0.009000	0.06853	3.312000	0.51927	2.369000	0.80426	0.643000	0.83706	GAG	PRAME	-	NULL	ENSG00000185686		0.572	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAME	HGNC	protein_coding	OTTHUMT00000321644.1	-	0	62	0	C	NM_206953		22890683	-1	tier1	-	no_errors	ENST00000398741	ensembl	human	known	74_37	nonsense	15.38	22	4	SNP	0.983	A	A	22890683	C	A	22890683	4	1	90	1	0	0	0	0	0	1	0	0	12466	864	30	3	197	3	PRAME	22	22890683	Nonsense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	3506358	22890683	28413883	317	26052											
C22orf15	150248	genome.wustl.edu	37	chr22	24107912	24107912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccccacccagggccCtgattaaggggatggattgc	7	8	11	15	0	0	1	0	1	0	0	2	3	2	3	6	4	1	0	6	4	1	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr22:24107912C>T	ENST00000402217.3	+	6	693	c.440C>T	c.(439-441)cCt>cTt	p.P147L	C22orf15_ENST00000382821.3_Silent_p.P142P|C22orf15_ENST00000305199.5_Silent_p.L149L	NM_182520.2	NP_872326.2	Q8WYQ4	CV015_HUMAN	chromosome 22 open reading frame 15	147										breast(1)|pancreas(1)	2		Medulloblastoma(6;6.27e-05)|all_neural(6;0.00518)				ACCCAGGGCCCTGATTAAGGG	0.577																																																	0													48	49	48					22																	24107912		692	1591	2283	SO:0001583	missense	0			AB050773	CCDS13814.2	22q11.23	2012-11-13			ENSG00000169314	ENSG00000169314			15558	protein-coding gene	gene with protein product							Standard	NM_182520		Approved	FLJ36561, N27C7-3	uc011aja.2	Q8WYQ4	OTTHUMG00000150740	ENST00000402217.3:c.440C>T	22.37:g.24107912C>T	ENSP00000384965:p.Pro147Leu		Q6ICJ7	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.P147L	ENST00000402217.3	37	c.440	CCDS13814.2	22	.	.	.	.	.	.	.	.	.	.	C	6.300	0.423516	0.11928	.	.	ENSG00000169314	ENST00000402217	.	.	.	3.52	-1.45	0.08828	.	572.337000	0.00792	U	0.001354	T	0.17534	0.0421	N	0.08118	0	0.09310	N	0.999999	B	0.17667	0.023	B	0.11329	0.006	T	0.09122	-1.0689	8	.	.	.	-1.2143	3.2198	0.06711	0.1841:0.4889:0.0:0.327	.	147	Q8WYQ4	CV015_HUMAN	L	147	.	.	P	+	2	0	C22orf15	22437912	0.000000	0.05858	0.000000	0.03702	0.242000	0.25591	-0.259000	0.08721	-0.122000	0.11766	0.485000	0.47835	CCT	C22orf15	-	NULL	ENSG00000169314		0.577	C22orf15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf15	HGNC	protein_coding	OTTHUMT00000319887.2	-	0	52	0	C	NM_182520		24107912	1	tier1	-	no_errors	ENST00000402217	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.000	T	T	24107912	C	T	24107912	3	4	90	1	0	0	0	0	1	0	0	0	2143	681	24	3	462	3	C22orf15	22	24107912	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	1217229	24107912	27196654	318	26053											
TFIP11	24144	genome.wustl.edu	37	chr22	26892716	26892716	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttggggaagatgagttGgtccagtatgttatctaaga	11	12	13	5	0	1	3	0	1	1	2	2	4	2	4	1	3	1	4	1	3	4	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chr22:26892716G>A	ENST00000407690.1	-	11	1859	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*	TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Nonsense_Mutation_p.Q526*|TFIP11_ENST00000405938.1_Nonsense_Mutation_p.Q526*|TFIP11_ENST00000407431.1_Nonsense_Mutation_p.Q526*	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	526					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AAGATGAGTTGGTCCAGTATG	0.478																																																	0													148	117	127					22																	26892716		2203	4300	6503	SO:0001587	stop_gained	0			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"G patch domain containing"	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1576C>T	22.37:g.26892716G>A	ENSP00000384421:p.Gln526*		O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Nonsense_Mutation	SNP	pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.Q526*	ENST00000407690.1	37	c.1576	CCDS13838.1	22	.	.	.	.	.	.	.	.	.	.	G	42	9.444594	0.99172	.	.	ENSG00000100109	ENST00000407690;ENST00000407431;ENST00000407148;ENST00000442693;ENST00000405938	.	.	.	5.23	5.23	0.72850	.	0.053967	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-31.8713	17.9478	0.89044	0.0:0.0:1.0:0.0	.	.	.	.	X	526;526;526;211;526	.	ENSP00000384297:Q526X	Q	-	1	0	TFIP11	25222716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.786000	0.75094	2.720000	0.93068	0.561000	0.74099	CAA	TFIP11	-	pfam_GCFC_dom	ENSG00000100109		0.478	TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TFIP11	HGNC	protein_coding	OTTHUMT00000320750.1	-	0	75	0	G	NM_001008697		26892716	-1	tier1	-	no_errors	ENST00000405938	ensembl	human	known	74_37	nonsense	38.78	30	19	SNP	1.000	A	A	26892716	G	A	26892716	4	1	90	1	0	0	0	0	0	1	0	0	15854	1357	47	3	957	3	TFIP11	22	26892716	Nonsense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	2784804	26892716	24411850	319	26054											
IL3RA	3563	genome.wustl.edu	37	chrX	1497627	1497627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgctggggacgctgctggCcctggtctgtgtcttcgtga	2	11	16	12	4	2	1	0	1	2	0	3	2	2	2	1	4	1	3	1	4	0	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:1497627C>T	ENST00000331035.4	+	10	1299	c.950C>T	c.(949-951)gCc>gTc	p.A317V	IL3RA_ENST00000381469.2_Missense_Mutation_p.A239V	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	317					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGCTGCTGGCCCTGGTCTGT	0.612																																																	0													132	108	116					X																	1497627		2201	4295	6496	SO:0001583	missense	0			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"Pseudoautosomal regions / PAR1", "Interleukins and interleukin receptors", "CD molecules"	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.950C>T	X.37:g.1497627C>T	ENSP00000327890:p.Ala317Val		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.A317V	ENST00000331035.4	37	c.950	CCDS14113.1	X	.	.	.	.	.	.	.	.	.	.	.	5.635	0.301782	0.10678	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;T	0.33654	1.67;1.4	0.798	-0.16	0.13375	.	94.233600	0.00931	U	0.002703	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	B;B	0.17852	0.018;0.024	B;B	0.15484	0.013;0.012	T	0.17167	-1.0378	9	0.02654	T	1	.	.	.	.	.	238;317	P26951-2;P26951	.;IL3RA_HUMAN	V	317;239	ENSP00000327890:A317V;ENSP00000370878:A239V	ENSP00000327890:A317V	A	+	2	0	IL3RA	1457627	0.001000	0.12720	0.031000	0.17742	0.086000	0.17979	-0.373000	0.07494	-0.099000	0.12263	0.402000	0.26972	GCC	IL3RA	-	NULL	ENSG00000185291		0.612	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	-	0	208	0	C			1497627	1	tier1	-	no_errors	ENST00000331035	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.028	T	T	1497627	C	T	1497627	3	4	90	1	0	0	0	0	1	0	0	0	7722	739	26	3	984	3	IL3RA	23	1497627	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09		1497627	153772933	320	26055											
ASMT	438	genome.wustl.edu	37	chrX	1755354	1755354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttcttcaaagaccctcttCcggaagctgatctgtacatc	10	13	6	12	1	4	2	1	1	3	1	6	3	5	3	2	1	2	2	2	1	3	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:1755354C>T	ENST00000381229.4	+	7	763	c.727C>T	c.(727-729)Ccg>Tcg	p.P243S	ASMT_ENST00000381241.3_Missense_Mutation_p.P271S|ASMT_ENST00000509780.1_3'UTR|ASMT_ENST00000381233.3_Missense_Mutation_p.P196S			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	243			P -> L (functional polymorphism with reduced enzyme activity; dbSNP:rs121918826). {ECO:0000269|PubMed:21251267, ECO:0000269|PubMed:22694957, ECO:0000269|PubMed:23349736}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	AGACCCTCTTCCGGAAGCTGA	0.542																																																	0													302	273	283					X																	1755354		2203	4296	6499	SO:0001583	missense	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.727C>T	X.37:g.1755354C>T	ENSP00000370627:p.Pro243Ser		B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.P271S	ENST00000381229.4	37	c.811		X	.	.	.	.	.	.	.	.	.	.	c	12.85	2.062455	0.36373	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233;ENST00000432523	T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49	2.33	2.33	0.28932	.	0.119825	0.56097	U	0.000021	D	0.91395	0.7285	H	0.94582	3.555	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84283	0.0495	10	0.72032	D	0.01	.	12.6028	0.56506	0.0:1.0:0.0:0.0	.	196;271	P46597-2;P46597-3	.;.	S	271;243;196;22	ENSP00000370639:P271S;ENSP00000370627:P243S;ENSP00000370631:P196S;ENSP00000392053:P22S	ENSP00000370627:P243S	P	+	1	0	ASMT	1715354	0.998000	0.40836	0.017000	0.16124	0.068000	0.16541	5.597000	0.67577	0.958000	0.37956	0.453000	0.30009	CCG	ASMT	-	pfam_O_MeTrfase_2,pirsf_COMT	ENSG00000196433		0.542	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0	166	0	C	NM_004043		1755354	1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	missense	52.31	31	34	SNP	0.994	T	T	1755354	C	T	1755354	3	4	90	1	0	0	0	0	1	0	0	0	1046	855	30	3	841	3	ASMT	23	1755354	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	257727	1755354	153515206	321	26056											
MAGEB3	4114	genome.wustl.edu	37	chrX	30254478	30254478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgtccaaaaaagccataAgaattgcttccctgagatcc	15	10	6	10	0	0	2	0	1	0	2	3	3	3	2	4	0	2	1	4	0	6	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:30254478A>G	ENST00000361644.2	+	5	1174	c.437A>G	c.(436-438)aAg>aGg	p.K146R		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	146	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAAGCCATAAGAATTGCTTC	0.358																																																	0													94	88	90					X																	30254478		2202	4299	6501	SO:0001583	missense	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 5"	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.437A>G	X.37:g.30254478A>G	ENSP00000355198:p.Lys146Arg		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K146R	ENST00000361644.2	37	c.437	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	A	6.991	0.553052	0.13374	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.05319	3.46;3.46	4.1	1.57	0.23409	.	0.438122	0.22367	N	0.060986	T	0.04724	0.0128	L	0.35723	1.085	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39722	-0.9600	10	0.28530	T	0.3	.	5.4161	0.16374	0.7592:0.0:0.2408:0.0	.	146	O15480	MAGB3_HUMAN	R	146	ENSP00000368271:K146R;ENSP00000355198:K146R	ENSP00000355198:K146R	K	+	2	0	MAGEB3	30164399	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.273000	0.18662	0.196000	0.20367	-0.360000	0.07572	AAG	MAGEB3	-	pfam_MAGE,pfscan_MAGE	ENSG00000198798		0.358	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	-	0	62	0	A	NM_002365		30254478	1	tier1	-	no_errors	ENST00000361644	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.000	G	G	30254478	A	G	30254478	3	3	90	1	0	0	0	0	1	0	0	0	9215	72	3	4	439	4	MAGEB3	23	30254478	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	28499124	30254478	125016082	322	26057											
SRPX	8406	genome.wustl.edu	37	chrX	38016194	38016194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaggaggtttcgggctgtGggtgtggacacaatgaggag	10	9	18	4	1	0	1	0	1	0	0	1	4	0	4	0	6	0	2	0	6	3	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:38016194G>T	ENST00000378533.3	-	8	1150	c.1044C>A	c.(1042-1044)ccC>ccA	p.P348P	SRPX_ENST00000343800.6_Silent_p.P335P|SRPX_ENST00000538295.1_Silent_p.P348P|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000544439.1_Silent_p.P328P|SRPX_ENST00000432886.2_Silent_p.P289P|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	348					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTCGGGCTGTGGGTGTGGACA	0.537																																																	0													100	76	84					X																	38016194		2202	4300	6502	SO:0001819	synonymous_variant	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1044C>A	X.37:g.38016194G>T			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.P348	ENST00000378533.3	37	c.1044	CCDS14245.1	X																																																																																			SRPX	-	NULL	ENSG00000101955		0.537	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1		0	92	0	G	NM_006307		38016194	-1			no_errors	ENST00000378533	ensembl	human	known	74_37	silent	8.57	32	3	SNP	0.997	T	T	38016194	G	T	38016194	2	4	90	1	0	0	0	0	0	0	0	1	15211	1335	47	3		3	SRPX	23	38016194	Silent	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	7761716	38016194	117254366	323	26058											
TSPAN7	7102	genome.wustl.edu	37	chrX	38525451	38525451	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatatctcccttattgccgAgaactccacaaatgctccct	10	12	4	15	1	1	1	0	0	1	1	4	2	3	1	4	0	3	1	4	0	5	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:38525451A>G	ENST00000378482.2	+	2	335	c.158A>G	c.(157-159)gAg>gGg	p.E53G	TSPAN7_ENST00000545599.1_Missense_Mutation_p.E27G|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E79G|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E70G|TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Missense_Mutation_p.E83G	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	53			E -> K (in dbSNP:rs17851592). {ECO:0000269|PubMed:15489334}.		viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTTATTGCCGAGAACTCCACA	0.517																																																	0													219	154	176					X																	38525451		2202	4300	6502	SO:0001583	missense	0			D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"CD molecules", "Tetraspanins"	11854	protein-coding gene	gene with protein product		300096	"transmembrane 4 superfamily member 2", "mental retardation, X-linked 58"	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.158A>G	X.37:g.38525451A>G	ENSP00000367743:p.Glu53Gly		B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.E79G	ENST00000378482.2	37	c.236	CCDS14248.1	X	.	.	.	.	.	.	.	.	.	.	A	27.5	4.841158	0.91197	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	6.02	6.02	0.97574	.	0.934809	0.09097	N	0.849015	D	0.87018	0.6073	M	0.73217	2.22	0.80722	D	1	P;P;D	0.53462	0.866;0.949;0.96	P;P;P	0.53146	0.686;0.719;0.672	T	0.82172	-0.0589	9	.	.	.	.	15.459	0.75339	1.0:0.0:0.0:0.0	.	70;79;53	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	G	83;53;79;70;27	ENSP00000417050:E83G;ENSP00000367743:E53G;ENSP00000388954:E79G;ENSP00000286824:E70G;ENSP00000441540:E27G	.	E	+	2	0	RP5-972B16.2;TSPAN7	38410395	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	7.174000	0.77620	2.035000	0.60131	0.481000	0.45027	GAG	TSPAN7	-	pfam_Tetraspanin/Peripherin	ENSG00000156298		0.517	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN7	HGNC	protein_coding	OTTHUMT00000356412.1	-	0	105	0	A			38525451	1	tier1	-	no_errors	ENST00000422612	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	G	G	38525451	A	G	38525451	3	3	90	1	0	0	0	0	1	0	0	0	16700	304	11	4	164	4	TSPAN7	23	38525451	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	509257	38525451	116745109	324	26059											
AKAP4	8852	genome.wustl.edu	37	chrX	49957519	49957519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagtccaggtgttggttCtccttttgacaggtggatgg	5	14	16	6	0	1	1	0	1	1	0	3	3	2	3	2	6	0	2	2	6	0	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:49957519C>T	ENST00000376056.2	-	5	1968	c.1818G>A	c.(1816-1818)gaG>gaA	p.E606E	AKAP4_ENST00000376064.3_Silent_p.E606E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.E232E|AKAP4_ENST00000358526.2_Silent_p.E615E					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGTGTTGGTTCTCCTTTTGAC	0.443																																																	0													128	109	115					X																	49957519		2203	4300	6503	SO:0001819	synonymous_variant	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1818G>A	X.37:g.49957519C>T				Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.E615	ENST00000376056.2	37	c.1845	CCDS14330.1	X																																																																																			AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.443	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0	121	0	C	NM_003886		49957519	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	silent	12.99	67	10	SNP	0.005	T	T	49957519	C	T	49957519	2	4	90	1	0	0	0	0	0	0	0	1	453	912	32	3		3	AKAP4	23	49957519	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	11432068	49957519	105313041	325	26060											
PHF8	23133	genome.wustl.edu	37	chrX	54022145	54022145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaccaggcggatctccCtggccagatctttaatgagc	8	10	9	14	1	2	2	0	1	2	1	4	3	3	3	4	3	1	0	4	3	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:54022145C>T	ENST00000357988.5	-	12	1770	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PHF8_ENST00000338154.6_Missense_Mutation_p.R435K|PHF8_ENST00000338946.6_Missense_Mutation_p.R435K|PHF8_ENST00000322659.8_Missense_Mutation_p.R435K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	471					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCGGATCTCCCTGGCCAGATC	0.537																																																	0													119	84	96					X																	54022145		2203	4300	6503	SO:0001583	missense	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	20672	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1F"	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1412G>A	X.37:g.54022145C>T	ENSP00000350676:p.Arg471Lys		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.R471K	ENST00000357988.5	37	c.1412	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.591|6.591	0.477334|0.477334	0.12521|0.12521	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000448003|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52	5.62|5.62	3.82|3.82	0.43975|0.43975	.|.	.|0.086238	.|0.85682	.|D	.|0.000000	T|T	0.12433|0.12433	0.0302|0.0302	N|N	0.11427|0.11427	0.14|0.14	0.32024|0.32024	N|N	0.600454|0.600454	.|B;B;B;B	.|0.18741	.|0.0;0.018;0.03;0.0	.|B;B;B;B	.|0.12156	.|0.001;0.003;0.007;0.001	T|T	0.19811|0.19811	-1.0294|-1.0294	5|10	.|0.02654	.|T	.|1	-13.8442|-13.8442	8.7013|8.7013	0.34327|0.34327	0.0:0.7825:0.0:0.2175|0.0:0.7825:0.0:0.2175	.|.	.|435;435;471;471	.|Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;.;PHF8_HUMAN	R|K	339;116|471;435;435;465;435	.|ENSP00000350676:R471K;ENSP00000338868:R435K;ENSP00000340051:R435K;ENSP00000319473:R435K	.|ENSP00000319473:R435K	G|R	-|-	1|2	0|0	PHF8|PHF8	54038870|54038870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	3.552000|3.552000	0.53705|0.53705	2.366000|2.366000	0.80165|0.80165	0.468000|0.468000	0.43344|0.43344	GGG|AGG	PHF8	-	NULL	ENSG00000172943		0.537	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	-	0	68	0	C	NM_015107		54022145	-1	tier1	-	no_errors	ENST00000357988	ensembl	human	known	74_37	missense	21.43	55	15	SNP	1.000	T	T	54022145	C	T	54022145	3	4	90	1	0	0	0	0	1	0	0	0	11879	681	24	3	1984	3	PHF8	23	54022145	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	4064626	54022145	101248415	326	26061											
ALAS2	212	genome.wustl.edu	37	chrX	55041349	55041349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagcaccatggggggcAgagaagtggtaaagatgaag	15	4	17	5	0	0	4	0	1	0	3	0	6	0	4	1	4	1	3	1	4	4	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:55041349A>G	ENST00000330807.5	-	9	1405	c.1268T>C	c.(1267-1269)cTg>cCg	p.L423P	ALAS2_ENST00000396198.3_Missense_Mutation_p.L410P|ALAS2_ENST00000335854.4_Missense_Mutation_p.L386P|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	423					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATGGGGGGCAGAGAAGTGGT	0.607																																																	0													38	34	35					X																	55041349		2203	4299	6502	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"sideroblastic/hypochromic anemia"	301300	"aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1268T>C	X.37:g.55041349A>G	ENSP00000332369:p.Leu423Pro		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	p.L423P	ENST00000330807.5	37	c.1268	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021605	0.54576	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.92348	-3.02;-3.02;-3.02	5.64	5.64	0.86602	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.071506	0.56097	D	0.000023	D	0.96049	0.8713	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96555	0.9411	10	0.87932	D	0	-5.2564	13.9791	0.64291	1.0:0.0:0.0:0.0	.	386;410;423	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	P	423;410;386	ENSP00000332369:L423P;ENSP00000379501:L410P;ENSP00000337131:L386P	ENSP00000332369:L423P	L	-	2	0	ALAS2	55058074	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	9.265000	0.95647	2.014000	0.59158	0.486000	0.48141	CTG	ALAS2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth	ENSG00000158578		0.607	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	-	0	66	0	A	NM_000032		55041349	-1	tier1	-	no_errors	ENST00000330807	ensembl	human	known	74_37	missense	32.65	33	16	SNP	1.000	G	G	55041349	A	G	55041349	3	3	90	1	0	0	0	0	1	0	0	0	485	188	7	4	507	4	ALAS2	23	55041349	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	1019204	55041349	100229211	327	26062											
RRAGB	10325	genome.wustl.edu	37	chrX	55755727	55755727	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcatatttgtcttccagTtgatgtagaacattctcatg	9	18	7	7	0	3	2	2	1	2	1	5	2	4	2	1	0	1	2	1	0	3	7			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:55755727T>G	ENST00000262850.7	+	5	754	c.311T>G	c.(310-312)tTt>tGt	p.F104C	RRAGB_ENST00000374941.4_Splice_Site_p.I76S	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TGTCTTCCAGTTGATGTAGAA	0.383																																																	0													191	156	168					X																	55755727		2203	4300	6503	SO:0001630	splice_region_variant	0			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.311-1T>G	X.37:g.55755727T>G				Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.F104C	ENST00000262850.7	37	c.311	CCDS14372.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	16.92|16.92	3.254926|3.254926	0.59321|0.59321	.|.	.|.	ENSG00000083750|ENSG00000083750	ENST00000262850|ENST00000374941;ENST00000414239	.|T;T	.|0.68181	.|-0.31;-0.22	5.03|5.03	3.87|3.87	0.44632|0.44632	.|.	0.104080|.	0.39210|.	N|.	0.001433|.	T|T	0.65176|0.65176	0.2666|0.2666	M|M	0.86028|0.86028	2.79|2.79	0.38452|0.38452	D|D	0.946988|0.946988	P|P	0.39326|0.42409	0.668|0.779	B|B	0.35413|0.36719	0.202|0.231	T|T	0.67507|0.67507	-0.5653|-0.5653	8|8	.|.	.|.	.|.	.|.	8.2018|8.2018	0.31430|0.31430	0.0:0.0978:0.0:0.9022|0.0:0.0978:0.0:0.9022	.|.	104|76	Q5VZM2|Q5VZM2-2	RRAGB_HUMAN|.	C|S	104|76;38	.|ENSP00000364077:I76S;ENSP00000410630:I38S	.|.	F|I	+|+	2|2	0|0	RRAGB|RRAGB	55772452|55772452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.496000|7.496000	0.81526|0.81526	0.699000|0.699000	0.31761|0.31761	0.483000|0.483000	0.47432|0.47432	TTT|ATT	RRAGB	-	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	ENSG00000083750		0.383	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGB	HGNC	protein_coding	OTTHUMT00000056878.1	-	0	122	0	T	NM_016656	Missense_Mutation	55755727	1	tier1	-	no_errors	ENST00000262850	ensembl	human	known	74_37	missense	27.78	65	25	SNP	1.000	G	G	55755727	T	G	55755727	5	3	90	1	0	0	0	0	0	0	1	0	13718	1739	60	4	329	4	RRAGB	23	55755727	Splice_Site	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	714378	55755727	99514833	328	26063											
UBQLN2	29978	genome.wustl.edu	37	chrX	56591387	56591387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgccgctaattatgtcGccagcatctttagtacccca	8	13	7	13	2	1	0	0	0	1	0	2	0	1	0	4	0	4	4	4	0	4	6			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:56591387G>T	ENST00000338222.5	+	1	1362	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	361					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TAATTATGTCGCCAGCATCTT	0.522																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0													48	35	40					X																	56591387		2203	4300	6503	SO:0001583	missense	0			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"Ubiquilin family"	12509	protein-coding gene	gene with protein product	"NEDD4 binding protein 4"	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1081G>T	X.37:g.56591387G>T	ENSP00000345195:p.Ala361Ser		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.A361S	ENST00000338222.5	37	c.1081	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	G	0.156	-1.085972	0.01873	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	D	0.86865	-2.18	4.74	4.74	0.60224	.	0.000000	0.64402	D	0.000006	T	0.79417	0.4442	L	0.37466	1.105	0.41841	D	0.990125	B;B	0.22983	0.078;0.05	B;B	0.20384	0.029;0.023	T	0.73222	-0.4051	10	0.13853	T	0.58	-9.5022	12.1167	0.53870	0.0:0.0:1.0:0.0	.	361;361	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	S	361	ENSP00000345195:A361S	ENSP00000345195:A361S	A	+	1	0	UBQLN2	56608112	1.000000	0.71417	0.967000	0.41034	0.926000	0.56050	6.469000	0.73555	2.349000	0.79799	0.600000	0.82982	GCC	UBQLN2	-	NULL	ENSG00000188021		0.522	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	-	0	33	0	G	NM_013444		56591387	1	tier1	-	no_errors	ENST00000338222	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.898	T	T	56591387	G	T	56591387	3	4	90	1	0	0	0	0	1	0	0	0	16946	1087	38	2	1083	2	UBQLN2	23	56591387	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	835660	56591387	98679173	329	26064											
TBX22	50945	genome.wustl.edu	37	chrX	79286534	79286534	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccatcttaaagtgaatgAcgacagtcaagtttcttttg	13	13	7	8	1	3	2	1	2	2	0	3	3	3	2	1	0	1	1	1	0	5	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:79286534A>T	ENST00000373294.5	+	8	1515	c.1487A>T	c.(1486-1488)gAc>gTc	p.D496V	TBX22_ENST00000442340.1_Missense_Mutation_p.D376V|TBX22_ENST00000373296.3_Missense_Mutation_p.D496V|TBX22_ENST00000373291.1_Missense_Mutation_p.D376V	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	496					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAAGTGAATGACGACAGTCAA	0.358																																																	0													71	64	66					X																	79286534		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1487A>T	X.37:g.79286534A>T	ENSP00000362390:p.Asp496Val		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.D496V	ENST00000373294.5	37	c.1487	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	A	10.35	1.326062	0.24080	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.87966	-2.32;-2.04;-2.32;-2.04	3.96	2.71	0.32032	.	0.824683	0.10810	N	0.631731	D	0.85212	0.5645	L	0.29908	0.895	0.40354	D	0.979163	D	0.57899	0.981	P	0.55161	0.77	T	0.79825	-0.1640	10	0.72032	D	0.01	.	6.1985	0.20563	0.8471:0.0:0.1529:0.0	.	496	Q9Y458	TBX22_HUMAN	V	496;376;496;376	ENSP00000362393:D496V;ENSP00000396394:D376V;ENSP00000362390:D496V;ENSP00000362388:D376V	ENSP00000362388:D376V	D	+	2	0	TBX22	79173190	1.000000	0.71417	0.128000	0.21923	0.071000	0.16799	4.416000	0.59815	0.390000	0.25115	0.417000	0.27973	GAC	TBX22	-	NULL	ENSG00000122145		0.358	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	-	0	63	0	A	NM_016954		79286534	1	tier1	-	no_errors	ENST00000373294	ensembl	human	known	74_37	missense	72.13	17	44	SNP	0.442	T	T	79286534	A	T	79286534	3	4	90	1	0	0	0	0	1	0	0	0	15705	275	10	5	1517	5	TBX22	23	79286534	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	22695147	79286534	75984026	330	26065											
PABPC5	140886	genome.wustl.edu	37	chrX	90690713	90690713	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctggccctctgcgatTcacccgaatctgccgtgatc	5	10	10	16	3	3	1	1	1	2	0	4	3	3	1	4	1	3	1	4	1	1	1			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:90690713T>G	ENST00000312600.3	+	2	351	c.137T>G	c.(136-138)tTc>tGc	p.F46C	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	46	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCTCTGCGATTCACCCGAATC	0.572																																																	0													46	37	40					X																	90690713		2203	4300	6503	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.137T>G	X.37:g.90690713T>G	ENSP00000308012:p.Phe46Cys		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.F46C	ENST00000312600.3	37	c.137	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917374	0.52546	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.15834	2.39	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.049362	0.85682	D	0.000000	T	0.19565	0.0470	N	0.21373	0.66	0.43902	D	0.996539	D	0.62365	0.991	P	0.59115	0.852	T	0.02167	-1.1202	10	0.87932	D	0	.	5.7577	0.18182	0.0:0.1157:0.0:0.8843	.	46	Q96DU9	PABP5_HUMAN	C	46;14	ENSP00000308012:F46C	ENSP00000308012:F46C	F	+	2	0	PABPC5	90577369	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.653000	0.67967	1.957000	0.56846	0.486000	0.48141	TTC	PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	-	0	64	0	T	NM_080832		90690713	1	tier1	-	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	76.74	10	33	SNP	1.000	G	G	90690713	T	G	90690713	3	3	90	1	0	0	0	0	1	0	0	0	11406	1783	62	4	139	4	PABPC5	23	90690713	Missense_Mutation	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	11404179	90690713	64579847	331	26066											
COL4A5	1287	genome.wustl.edu	37	chrX	107840674	107840674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacctggtgatatcctcaCttttccaggaatgaagggtg	10	12	11	8	0	1	3	1	3	0	0	3	4	3	4	3	3	1	0	3	3	4	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:107840674C>A	ENST00000361603.2	+	24	1899	c.1655C>A	c.(1654-1656)aCt>aAt	p.T552N	COL4A5_ENST00000328300.6_Missense_Mutation_p.T552N	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	552	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GATATCCTCACTTTTCCAGGA	0.507									Alport syndrome with Diffuse Leiomyomatosis																																								0													81	80	80					X																	107840674		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"Collagens"	2207	protein-coding gene	gene with protein product		303630	"Alport syndrome"	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1655C>A	X.37:g.107840674C>A	ENSP00000354505:p.Thr552Asn		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.T552N	ENST00000361603.2	37	c.1655	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	c	13.41	2.228801	0.39399	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.92752	-3.1;-3.1	5.58	5.58	0.84498	.	0.141387	0.47852	D	0.000220	D	0.82852	0.5127	N	0.08118	0	0.30017	N	0.814697	B;B;B	0.15473	0.006;0.013;0.006	B;B;B	0.12156	0.007;0.005;0.007	T	0.75022	-0.3464	10	0.25751	T	0.34	.	13.5833	0.61915	0.155:0.845:0.0:0.0	.	552;160;552	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	N	552	ENSP00000331902:T552N;ENSP00000354505:T552N	ENSP00000331902:T552N	T	+	2	0	COL4A5	107727330	0.666000	0.27475	1.000000	0.80357	0.996000	0.88848	1.559000	0.36320	2.344000	0.79699	0.597000	0.82753	ACT	COL4A5	-	NULL	ENSG00000188153		0.507	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0	112	0	C			107840674	1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	23.29	56	17	SNP	1.000	A	A	107840674	C	A	107840674	3	1	90	1	0	0	0	0	1	0	0	0	3701	565	20	3	1749	3	COL4A5	23	107840674	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	17149961	107840674	47429886	332	26067											
DOCK11	139818	genome.wustl.edu	37	chrX	117712576	117712576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaaacattacacactgtgCagaaccctatatcaaaaatt	17	9	6	9	0	1	1	1	0	0	1	1	2	1	2	1	1	4	1	1	1	7	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:117712576C>T	ENST00000276202.7	+	13	1541	c.1478C>T	c.(1477-1479)gCa>gTa	p.A493V	DOCK11_ENST00000276204.6_Missense_Mutation_p.A493V	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	493					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ACACACTGTGCAGAACCCTAT	0.343																																																	0													61	56	58					X																	117712576		2203	4300	6503	SO:0001583	missense	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"Pleckstrin homology (PH) domain containing"	23483	protein-coding gene	gene with protein product	"zizimin2"	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.1478C>T	X.37:g.117712576C>T	ENSP00000276202:p.Ala493Val		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A493V	ENST00000276202.7	37	c.1478	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603146	0.66445	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.50548	0.74;0.74	5.95	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.45285	1.41	0.50813	D	0.999895	B;B	0.17852	0.024;0.024	B;B	0.20577	0.021;0.03	T	0.21827	-1.0234	10	0.36615	T	0.2	-15.9486	13.2586	0.60093	0.0:0.92:0.0:0.08	.	493;493	A6NIW2;Q5JSL3	.;DOC11_HUMAN	V	493	ENSP00000276204:A493V;ENSP00000276202:A493V	ENSP00000276202:A493V	A	+	2	0	DOCK11	117596604	0.991000	0.36638	0.986000	0.45419	0.985000	0.73830	2.954000	0.49113	2.519000	0.84933	0.594000	0.82650	GCA	DOCK11	-	NULL	ENSG00000147251		0.343	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	-	0	85	0	C	NM_144658		117712576	1	tier1	-	no_errors	ENST00000276202	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	117712576	C	T	117712576	3	4	90	1	0	0	0	0	1	0	0	0	4700	710	25	3	1528	3	DOCK11	23	117712576	Missense_Mutation	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	9871902	117712576	37557984	333	26068											
ENOX2	10495	genome.wustl.edu	37	chrX	129822857	129822857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttggagggaagagcGtgcagcttttacagtgtatg	9	13	15	4	1	0	1	0	0	0	1	0	4	0	4	0	3	4	3	0	3	3	5			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:129822857G>A	ENST00000370927.1	-	3	341	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ENOX2_ENST00000370935.1_Missense_Mutation_p.T78M|ENOX2_ENST00000338144.3_Missense_Mutation_p.T107M|ENOX2_ENST00000394363.1_Missense_Mutation_p.T78M|ENOX2_ENST00000492263.1_5'UTR			Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	107	Pro-rich.				cell growth (GO:0016049)|oxidation-reduction process (GO:0055114)|regulation of growth (GO:0040008)|ultradian rhythm (GO:0007624)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|protein disulfide oxidoreductase activity (GO:0015035)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGGGAAGAGCGTGCAGCTTTT	0.393																																					Ovarian(101;828 1506 2951 9500 35258)												0													266	218	234					X																	129822857		2203	4300	6503	SO:0001583	missense	0			AF207881	CCDS14626.1, CCDS14627.1	Xq25	2013-02-12	2007-03-23	2007-03-23	ENSG00000165675	ENSG00000165675		"RNA binding motif (RRM) containing"	2259	protein-coding gene	gene with protein product		300282	"cytosolic ovarian carcinoma antigen 1"	COVA1		8150545, 11888291	Standard	NM_006375		Approved	APK1, tNOX	uc004evw.3	Q16206	OTTHUMG00000022401	ENST00000370927.1:c.320C>T	X.37:g.129822857G>A	ENSP00000359965:p.Thr107Met		A8K197|A8K1C2|Q5VTJ1|Q5VTJ2|Q8WUX0|Q9NTP6|Q9UH82	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T107M	ENST00000370927.1	37	c.320	CCDS14626.1	X	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681963	0.68042	.	.	ENSG00000165675	ENST00000538435;ENST00000370935;ENST00000338144;ENST00000394363;ENST00000350369;ENST00000370927;ENST00000432489	T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84	5.12	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.83275	0.5219	M	0.71036	2.16	0.46927	D	0.999251	D	0.89917	1.0	D	0.91635	0.999	T	0.82845	-0.0256	9	.	.	.	-5.666	10.4	0.44225	0.0963:0.0:0.9037:0.0	.	107	Q16206	ENOX2_HUMAN	M	78;78;107;78;135;107;78	ENSP00000359973:T78M;ENSP00000337146:T107M;ENSP00000377890:T78M;ENSP00000359965:T107M;ENSP00000400304:T78M	.	T	-	2	0	ENOX2	129650538	1.000000	0.71417	0.971000	0.41717	0.953000	0.61014	7.448000	0.80631	1.151000	0.42436	0.513000	0.50165	ACG	ENOX2	-	NULL	ENSG00000165675		0.393	ENOX2-004	KNOWN	basic|CCDS	protein_coding	ENOX2	HGNC	protein_coding	OTTHUMT00000058277.1	-	0	72	0	G	NM_182314		129822857	-1	tier1	-	no_errors	ENST00000338144	ensembl	human	known	74_37	missense	35.62	47	26	SNP	0.995	A	A	129822857	G	A	129822857	3	1	90	1	0	0	0	0	1	0	0	0	5143	1145	40	1	1556	1	ENOX2	23	129822857	Missense_Mutation	SNP	G	TCGA-L5-A8NR-01A-11D-A37C-09	12110281	129822857	25447703	334	26069											
GPR112	139378	genome.wustl.edu	37	chrX	135432567	135432567	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatctacggaagcatcgacTtcgcctactgccaccaagtc	10	9	7	15	3	1	0	0	0	1	0	4	2	1	1	3	1	4	1	3	1	5	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:135432567T>G	ENST00000394143.1	+	6	6993	c.6702T>G	c.(6700-6702)acT>acG	p.T2234T	GPR112_ENST00000394141.1_Silent_p.T2029T|GPR112_ENST00000287534.4_Silent_p.T2171T|GPR112_ENST00000370652.1_Silent_p.T2234T|GPR112_ENST00000412101.1_Silent_p.T2029T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2234					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGCATCGACTTCGCCTACTG	0.468																																																	0													118	99	105					X																	135432567		2203	4300	6503	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6702T>G	X.37:g.135432567T>G			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T2234	ENST00000394143.1	37	c.6702	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	67	0	T			135432567	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	silent	71.79	11	28	SNP	0.075	G	G	135432567	T	G	135432567	2	3	90	1	0	0	0	0	0	0	0	1	6655	1596	56	4		4	GPR112	23	135432567	Silent	SNP	T	TCGA-L5-A8NR-01A-11D-A37C-09	5609710	135432567	19837993	335	26070											
GPR112	139378	genome.wustl.edu	37	chrX	135439883	135439883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaacagagagaaggacaAgaaatggctacaatttccta	17	8	10	6	0	0	3	0	0	0	3	1	6	1	5	1	3	2	1	1	3	7	4			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:135439883A>G	ENST00000394143.1	+	10	7239	c.6948A>G	c.(6946-6948)caA>caG	p.Q2316Q	GPR112_ENST00000394141.1_Silent_p.Q2111Q|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Silent_p.Q2316Q|GPR112_ENST00000412101.1_Silent_p.Q2111Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2316					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GAGAAGGACAAGAAATGGCTA	0.343																																																	0													231	212	219					X																	135439883		2203	4300	6503	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6948A>G	X.37:g.135439883A>G			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.Q2316	ENST00000394143.1	37	c.6948	CCDS35409.1	X																																																																																			GPR112	-	NULL	ENSG00000156920		0.343	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	-	0	68	0	A			135439883	1	tier1	-	no_errors	ENST00000370652	ensembl	human	known	74_37	silent	61.22	19	30	SNP	0.931	G	G	135439883	A	G	135439883	2	3	90	1	0	0	0	0	0	0	0	1	6655	69	3	4		4	GPR112	23	135439883	Silent	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	7316	135439883	19830677	336	26071											
PRRG3	79057	genome.wustl.edu	37	chrX	150868621	150868621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgtttgagaacaaagAgaaaacggcatgtaccaccc	16	6	11	8	1	0	2	0	1	0	2	0	5	0	3	2	2	3	3	2	2	6	2			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:150868621A>G	ENST00000370353.3	+	3	551	c.161A>G	c.(160-162)gAg>gGg	p.E54G	PRRG3_ENST00000538575.1_Missense_Mutation_p.E54G|PRRG3_ENST00000370354.1_Missense_Mutation_p.E62G			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	54	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAACAAAGAGAAAACGGCA	0.542																																																	0													65	62	63					X																	150868621		2203	4300	6503	SO:0001583	missense	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.161A>G	X.37:g.150868621A>G	ENSP00000359378:p.Glu54Gly		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.E54G	ENST00000370353.3	37	c.161	CCDS14699.1	X	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909268	0.72868	.	.	ENSG00000130032	ENST00000538575;ENST00000370354;ENST00000370353	D;D;D	0.99277	-5.67;-5.67;-5.67	4.5	4.5	0.54988	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.137128	0.47455	D	0.000236	D	0.98947	0.9642	M	0.78344	2.41	0.47698	D	0.999499	D	0.57257	0.979	P	0.54759	0.76	D	0.98974	1.0802	10	0.72032	D	0.01	-24.0501	10.7616	0.46268	1.0:0.0:0.0:0.0	.	54	Q9BZD7	TMG3_HUMAN	G	54;62;54	ENSP00000440217:E54G;ENSP00000359379:E62G;ENSP00000359378:E54G	ENSP00000359378:E54G	E	+	2	0	PRRG3	150619277	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.800000	0.62524	1.663000	0.50791	0.430000	0.28490	GAG	PRRG3	-	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	ENSG00000130032		0.542	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	-	0	56	0	A	NM_024082		150868621	1	tier1	-	no_errors	ENST00000370353	ensembl	human	known	74_37	missense	76.60	11	36	SNP	0.989	G	G	150868621	A	G	150868621	3	3	90	1	0	0	0	0	1	0	0	0	12649	304	11	4	167	4	PRRG3	23	150868621	Missense_Mutation	SNP	A	TCGA-L5-A8NR-01A-11D-A37C-09	15428738	150868621	4401939	337	26072											
PDZD4	57595	genome.wustl.edu	37	chrX	153069861	153069861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagctgctgcatcttctgCgcccgcagtatgttgcggca	5	10	12	14	4	2	0	0	0	2	0	2	0	2	0	1	1	5	8	1	1	1	3			TCGA-L5-A8NR-01A-11D-A37C-09	TCGA-L5-A8NR-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b154131f-fe7b-4e83-96b4-81b23fad84e2	5884f0ba-19ec-4f30-bd6d-86742a79b271	g.chrX:153069861C>T	ENST00000164640.4	-	8	1448	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000393758.2_Silent_p.A344A|PDZD4_ENST00000544474.1_Silent_p.A310A	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	419						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCATCTTCTGCGCCCGCAGTA	0.637																																																	0													42	34	36					X																	153069861		2203	4297	6500	SO:0001819	synonymous_variant	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1257G>A	X.37:g.153069861C>T			B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A419	ENST00000164640.4	37	c.1257	CCDS14732.1	X																																																																																			PDZD4	-	NULL	ENSG00000067840		0.637	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	-	0	78	0	C	NM_032512		153069861	-1	tier1	-	no_errors	ENST00000164640	ensembl	human	known	74_37	silent	54.00	23	27	SNP	0.884	T	T	153069861	C	T	153069861	2	4	90	1	0	0	0	0	0	0	0	1	11742	755	27	1		1	PDZD4	23	153069861	Silent	SNP	C	TCGA-L5-A8NR-01A-11D-A37C-09	2201240	153069861	2200699	338	26073											
AGRN	375790	genome.wustl.edu	37	chr1	981395	981395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtgagttcggtgcgcGgtgcgtggaggagtctggct	3	10	20	8	5	1	1	0	1	1	0	2	3	1	3	0	5	2	3	0	5	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:981395G>A	ENST00000379370.2	+	16	2782	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	911					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TTCGGTGCGCGGTGCGTGGAG	0.657																																																	0													143	138	140					1																	981395		2203	4300	6503	SO:0001583	missense	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"Proteoglycans / Extracellular Matrix : Other"	329	protein-coding gene	gene with protein product	"agrin proteoglycan"	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2732G>A	1.37:g.981395G>A	ENSP00000368678:p.Arg911Gln		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom	p.R911Q	ENST00000379370.2	37	c.2732	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	T	8.264	0.811918	0.16537	.	.	ENSG00000188157	ENST00000379370	T	0.74842	-0.88	5.46	3.59	0.41128	Follistatin-like, N-terminal (1);	0.755303	0.10995	N	0.611185	T	0.56337	0.1978	N	0.11789	0.175	0.09310	N	1	B	0.28880	0.226	B	0.28385	0.089	T	0.44651	-0.9314	10	0.33940	T	0.23	-13.6477	9.1735	0.37098	0.0:0.7744:0.1465:0.0791	.	911	O00468	AGRIN_HUMAN	Q	911	ENSP00000368678:R911Q	ENSP00000368678:R911Q	R	+	2	0	AGRN	971258	0.007000	0.16637	0.181000	0.23098	0.004000	0.04260	2.298000	0.43602	0.657000	0.30906	-0.989000	0.02550	CGG	AGRN	-	smart_FacI_MAC,smart_Fol_N,smart_EG-like_dom	ENSG00000188157		0.657	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	-	0	59	0	G	NM_198576		981395	1	tier1	-	no_errors	ENST00000379370	ensembl	human	known	74_37	missense	19.51	33	8	SNP	0.350	A	A	981395	G	A	981395	3	1	91	1	0	0	0	0	1	0	0	0	397	1116	39	1	2794	1	AGRN	1	981395	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		981395	248269226	1	26074											
TNFRSF4	7293	genome.wustl.edu	37	chr1	1147484	1147484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcgtccgagctattgctggCcggctgcagggtgtgcttcc	3	11	15	12	3	0	0	0	0	0	0	2	1	2	0	3	3	5	5	3	3	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:1147484C>A	ENST00000379236.3	-	5	476	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	158					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTATTGCTGGCCGGCTGCAGG	0.682																																																	0													31	31	31					1																	1147484		2203	4299	6502	SO:0001583	missense	0			X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"Tumor necrosis factor receptor superfamily", "CD molecules"	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.472G>T	1.37:g.1147484C>A	ENSP00000368538:p.Ala158Ser		Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_4	p.A158S	ENST00000379236.3	37	c.472	CCDS11.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.73|16.73	3.203921|3.203921	0.58234|0.58234	.|.	.|.	ENSG00000186827|ENSG00000186827	ENST00000379236|ENST00000453580	T|.	0.70045|.	-0.45|.	3.47|3.47	3.47|3.47	0.39725|0.39725	TNFR/CD27/30/40/95 cysteine-rich region (1);|.	1.052770|.	0.07572|.	N|.	0.918795|.	T|T	0.51805|0.51805	0.1696|0.1696	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	D;P|.	0.60160|.	0.987;0.82|.	P;P|.	0.56088|.	0.791;0.527|.	T|T	0.42816|0.42816	-0.9429|-0.9429	10|5	0.62326|.	D|.	0.03|.	-17.3512|-17.3512	12.8273|12.8273	0.57726|0.57726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;158|.	B1AME4;P43489|.	.;TNR4_HUMAN|.	S|V	158|103	ENSP00000368538:A158S|.	ENSP00000368538:A158S|.	A|G	-|-	1|2	0|0	TNFRSF4|TNFRSF4	1137347|1137347	0.016000|0.016000	0.18221|0.18221	0.013000|0.013000	0.15412|0.15412	0.149000|0.149000	0.21700|0.21700	0.990000|0.990000	0.29642|0.29642	1.934000|1.934000	0.56057|0.56057	0.491000|0.491000	0.48974|0.48974	GCC|GGC	TNFRSF4	-	smart_TNFR/NGFR_Cys_rich_reg	ENSG00000186827		0.682	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF4	HGNC	protein_coding	OTTHUMT00000004086.1	-	0	109	0	C			1147484	-1	tier1	-	no_errors	ENST00000379236	ensembl	human	known	74_37	missense	11.65	91	12	SNP	0.040	A	A	1147484	C	A	1147484	3	1	91	1	0	0	0	0	1	0	0	0	16344	739	26	3	373	3	TNFRSF4	1	1147484	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	166089	1147484	248103137	2	26075											
TP73	7161	genome.wustl.edu	37	chr1	3639996	3639996	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggatgaccctgtcaccgGcaggcagagcgtcgtggtgc	6	8	16	11	3	1	2	1	1	0	1	2	3	1	3	2	4	2	2	2	4	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:3639996G>C	ENST00000378295.4	+	6	850	c.695G>C	c.(694-696)gGc>gCc	p.G232A	TP73_ENST00000357733.3_Missense_Mutation_p.G232A|TP73_ENST00000603362.1_Missense_Mutation_p.G232A|TP73_ENST00000378288.4_Missense_Mutation_p.G183A|TP73_ENST00000604074.1_Missense_Mutation_p.G232A|TP73_ENST00000604479.1_Missense_Mutation_p.G232A|TP73_ENST00000378285.1_Missense_Mutation_p.G183A|TP73_ENST00000378280.1_Missense_Mutation_p.G183A|TP73_ENST00000346387.4_Missense_Mutation_p.G232A|TP73_ENST00000378290.4_Missense_Mutation_p.G161A|TP73_ENST00000354437.4_Missense_Mutation_p.G232A	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	232	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCTGTCACCGGCAGGCAGAGC	0.647																																																	0													65	53	57					1																	3639996		2198	4292	6490	SO:0001583	missense	0			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.695G>C	1.37:g.3639996G>C	ENSP00000367545:p.Gly232Ala		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.G232A	ENST00000378295.4	37	c.695	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449998	0.43531	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	3.97	2.98	0.34508	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.053517	0.85682	D	0.000000	D	0.99039	0.9671	L	0.60067	1.865	0.80722	D	1	B;B;B;B;B;B	0.32693	0.025;0.38;0.156;0.041;0.105;0.187	B;B;B;B;B;B	0.36845	0.024;0.234;0.066;0.048;0.085;0.109	D	0.99945	1.1453	10	0.45353	T	0.12	-33.8992	11.252	0.49031	0.0:0.0:0.8178:0.1822	.	183;183;183;183;232;232	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	A	232;232;232;232;183;183;183;161	ENSP00000367545:G232A;ENSP00000346423:G232A;ENSP00000350366:G232A;ENSP00000340740:G232A;ENSP00000367537:G183A;ENSP00000367534:G183A;ENSP00000367529:G183A;ENSP00000367539:G161A	ENSP00000340740:G232A	G	+	2	0	TP73	3629856	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.751000	0.85126	1.959000	0.56917	0.491000	0.48974	GGC	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000078900		0.647	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	-	0	42	0	G	NM_005427		3639996	1	tier1	-	no_errors	ENST00000378295	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	C	C	3639996	G	C	3639996	3	2	91	1	0	0	0	0	1	0	0	0	16441	1203	42	5	756	5	TP73	1	3639996	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2492512	3639996	245610625	3	26076											
PTCHD2	57540	genome.wustl.edu	37	chr1	11577655	11577655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggagagctcctgccagAccaggtaagtcgggcagggc	9	5	15	12	1	0	2	0	0	0	2	2	3	1	2	3	4	2	3	3	4	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:11577655A>G	ENST00000294484.6	+	7	2023	c.1885A>G	c.(1885-1887)Acc>Gcc	p.T629A	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T629A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	629					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCCTGCCAGACCAGGTAAGT	0.597																																																	0													38	41	40					1																	11577655		1991	4164	6155	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1885A>G	1.37:g.11577655A>G	ENSP00000294484:p.Thr629Ala		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.T629A	ENST00000294484.6	37	c.1885	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	A	6.085	0.383949	0.11524	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.85013	-1.93;-1.93	5.67	-4.66	0.03329	.	1.092760	0.06771	N	0.783428	T	0.62171	0.2406	N	0.03608	-0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.58042	-0.7706	10	0.05620	T	0.96	-12.7437	10.8089	0.46535	0.3552:0.0:0.5435:0.1013	.	629	Q9P2K9	PTHD2_HUMAN	A	629	ENSP00000294484:T629A;ENSP00000374226:T629A	ENSP00000294484:T629A	T	+	1	0	PTCHD2	11500242	0.260000	0.24053	0.898000	0.35279	0.749000	0.42624	0.202000	0.17295	-0.909000	0.03852	-0.441000	0.05720	ACC	PTCHD2	-	pfam_Patched	ENSG00000204624		0.597	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2		0	29	0	A	XM_052561		11577655	1			no_errors	ENST00000294484	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.234	G	G	11577655	A	G	11577655	3	3	91	1	0	0	0	0	1	0	0	0	12775	275	10	4	1907	4	PTCHD2	1	11577655	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7937659	11577655	237672966	4	26077											
EIF4G3	8672	genome.wustl.edu	37	chr1	21307562	21307562	+	Frame_Shift_Del	DEL	C	C	-																															tgtggtatacagtactgaggCccctggggcactgggtacgg																								rs559259798		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:21307562delC	ENST00000264211.8	-	3	383	c.189delG	c.(187-189)gggfs	p.G63fs	EIF4G3_ENST00000356916.3_Frame_Shift_Del_p.G74fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.G63fs|EIF4G3_ENST00000602326.1_Frame_Shift_Del_p.G70fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.G70fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.G63fs|EIF4G3_ENST00000374927.4_Frame_Shift_Del_p.G63fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	63					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGTACTGAGGCCCCTGGGGCA	0.532																																																	0													100	88	92					1																	21307562		2203	4300	6503	SO:0001589	frameshift_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.189delG	1.37:g.21307562delC	ENSP00000264211:p.Gly63fs		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Del	DEL	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.P71fs	ENST00000264211.8	37	c.210	CCDS214.1	1																																																																																			EIF4G3	-	NULL	ENSG00000075151		0.532	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3		0	42	0	C	NM_003760		21307562	-1	tier1		no_errors	ENST00000374937	ensembl	human	known	74_37	frame_shift_del	6.90	27	2	DEL	0.649	-	-	21307562	C	-	21307562	7	5	91	1	0	1	0	1	0	0	0	0	5054	726	26	0	4684	0	EIF4G3	1	21307562	Frame_Shift_Del	DEL	C	TCGA-L5-A8NS-01A-12D-A37C-09	9729907	21307562	227943059	5	26078											
HSPG2	3339	genome.wustl.edu	37	chr1	22222429	22222429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttacccatctggaagtccCcgctgcccaggtccccactg	7	8	8	18	1	1	0	0	0	1	0	3	1	3	1	6	2	2	1	6	2	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:22222429C>G	ENST00000374695.3	-	3	309	c.230G>C	c.(229-231)gGg>gCg	p.G77A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	77					angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGAAGTCCCCGCTGCCCAG	0.572																																																	0													52	54	54					1																	22222429		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.230G>C	1.37:g.22222429C>G	ENSP00000363827:p.Gly77Ala		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.G77A	ENST00000374695.3	37	c.230	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224680	0.79576	.	.	ENSG00000142798	ENST00000374695;ENST00000412328;ENST00000439717	T;T;T	0.76709	-1.04;-0.18;0.7	4.72	4.72	0.59763	.	0.000000	0.40302	N	0.001137	T	0.79747	0.4499	L	0.27053	0.805	0.32560	N	0.531218	D;B	0.89917	1.0;0.016	D;B	0.91635	0.999;0.008	T	0.80792	-0.1224	10	0.33940	T	0.23	.	13.0666	0.59036	0.0:1.0:0.0:0.0	.	56;77	Q5SZI5;P98160	.;PGBM_HUMAN	A	77;56;43	ENSP00000363827:G77A;ENSP00000405412:G56A;ENSP00000395884:G43A	ENSP00000363827:G77A	G	-	2	0	HSPG2	22095016	0.710000	0.27896	0.998000	0.56505	0.966000	0.64601	2.156000	0.42310	2.452000	0.82932	0.643000	0.83706	GGG	HSPG2	-	NULL	ENSG00000142798		0.572	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	55	0	C	NM_005529		22222429	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	G	G	22222429	C	G	22222429	3	3	91	1	0	0	0	0	1	0	0	0	7457	623	22	5	13325	5	HSPG2	1	22222429	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	914867	22222429	227028192	6	26079											
AHDC1	27245	genome.wustl.edu	37	chr1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-																															gttctcgggcgagggctggaAggaggaggaggaggaggagg																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:27875353_27875355delAGG	ENST00000247087.5	-	5	3868_3870	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000374011.2_In_Frame_Del_p.S1091del			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665																																																	0																																										SO:0001651	inframe_deletion	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3272_3274delCCT	1.37:g.27875362_27875364delAGG	ENSP00000247087:p.Ser1091del		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	In_Frame_Del	DEL	NULL	p.S1091in_frame_del	ENST00000247087.5	37	c.3274_3272	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.665	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3		0	30	0	AGG			27875355	-1	tier1		no_errors	ENST00000247087	ensembl	human	known	74_37	in_frame_del	23.08	10	3	DEL	1.000:1.000:1.000	-	-	27875355	AGG	-	27875353	7	5	91	1	0	1	0	1	0	0	0	0	412	72	3	0	1541	0	AHDC1	1	27875353	In_Frame_Del	DEL	AGG	TCGA-L5-A8NS-01A-12D-A37C-09	5652924	27875353	221375268	7	26080											
MATN1	4146	genome.wustl.edu	37	chr1	31188993	31188993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagggggaactcctggcGcacagagcttgagtactgca	10	6	13	12	1	0	2	0	1	0	1	1	3	1	3	2	3	4	4	2	3	2	2	rs141354318		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:31188993G>A	ENST00000373765.4	-	5	1005	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	324	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		AACTCCTGGCGCACAGAGCTT	0.572																																																	0								G	CYS/ARG	0,4406		0,0,2203	82	88	86		970	5.3	0.9	1	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	MATN1	NM_002379.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	324/497	31188993	1,13005	2203	4300	6503	SO:0001583	missense	0			M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.970C>T	1.37:g.31188993G>A	ENSP00000362870:p.Arg324Cys		B2R7E3|Q5TBB9	Missense_Mutation	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A	p.R324C	ENST00000373765.4	37	c.970	CCDS336.1	1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465211	0.43839	0.0	1.16E-4	ENSG00000162510	ENST00000373765	D	0.84442	-1.85	5.34	5.34	0.76211	von Willebrand factor, type A (3);	.	.	.	.	D	0.94401	0.8199	H	0.96547	3.84	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.959	D	0.95650	0.8706	9	0.87932	D	0	-25.4758	13.6234	0.62150	0.0:0.0:0.7155:0.2845	.	308;324	A3KMG0;P21941	.;MATN1_HUMAN	C	324	ENSP00000362870:R324C	ENSP00000362870:R324C	R	-	1	0	MATN1	30961580	1.000000	0.71417	0.865000	0.33974	0.150000	0.21749	3.418000	0.52721	2.499000	0.84300	0.650000	0.86243	CGC	MATN1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000162510		0.572	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN1	HGNC	protein_coding	OTTHUMT00000010458.1		0	30	0	G	NM_002379		31188993	-1			no_errors	ENST00000373765	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.999	A	A	31188993	G	A	31188993	3	1	91	1	0	0	0	0	1	0	0	0	9371	1087	38	1	536	1	MATN1	1	31188993	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3313640	31188993	218061628	8	26081											
THRAP3	9967	genome.wustl.edu	37	chr1	36769568	36769568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattgaagacgacgagagtGggacagagaaccgagaagag	17	3	16	5	3	0	7	0	1	0	6	0	12	0	8	1	1	1	0	1	1	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:36769568G>T	ENST00000354618.5	+	12	3042	c.2818G>T	c.(2818-2820)Ggg>Tgg	p.G940W	THRAP3_ENST00000469141.2_Missense_Mutation_p.G940W|SH3D21_ENST00000453908.2_5'Flank|SH3D21_ENST00000426732.2_5'Flank	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	940	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGACGAGAGTGGGACAGAGAA	0.587			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													59	64	63					1																	36769568		2203	4300	6503	SO:0001583	missense	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2818G>T	1.37:g.36769568G>T	ENSP00000346634:p.Gly940Trp		D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.G940W	ENST00000354618.5	37	c.2818	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127134	0.56721	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.10960	2.82;2.82	5.0	4.08	0.47627	.	0.000000	0.64402	D	0.000003	T	0.14743	0.0356	L	0.36672	1.1	0.53688	D	0.999978	P	0.49447	0.924	P	0.49752	0.621	T	0.01298	-1.1392	10	0.72032	D	0.01	-13.5809	12.688	0.56958	0.0805:0.0:0.9195:0.0	.	940	Q9Y2W1	TR150_HUMAN	W	940	ENSP00000346634:G940W;ENSP00000433825:G940W	ENSP00000346634:G940W	G	+	1	0	THRAP3	36542155	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.687000	0.68219	1.230000	0.43646	0.563000	0.77884	GGG	THRAP3	-	NULL	ENSG00000054118		0.587	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2		0	72	0	G	NM_005119		36769568	1			no_errors	ENST00000354618	ensembl	human	known	74_37	missense	5.26	35	2	SNP	1.000	T	T	36769568	G	T	36769568	3	4	91	1	0	0	0	0	1	0	0	0	15921	1348	47	3	2856	3	THRAP3	1	36769568	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5580575	36769568	212481053	9	26082											
CCDC30	728621	genome.wustl.edu	37	chr1	43004883	43004883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagcttatatgcctttatAatgaagttcacaatcttcca	13	14	5	9	0	2	2	1	1	1	1	3	2	3	2	2	0	2	2	2	0	6	7	rs369098834		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:43004883A>G	ENST00000340612.4	+	2	157	c.157A>G	c.(157-159)Aat>Gat	p.N53D	CCDC30_ENST00000342022.4_Missense_Mutation_p.N53D|CCDC30_ENST00000428554.2_Missense_Mutation_p.N53D|CCDC30_ENST00000507855.1_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	53						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ATGCCTTTATAATGAAGTTCA	0.313																																																	0													77	82	81					1																	43004883		2203	4300	6503	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.157A>G	1.37:g.43004883A>G	ENSP00000340378:p.Asn53Asp		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.N53D	ENST00000340612.4	37	c.157	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	A	8.789	0.930137	0.18131	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000342022	T;T;T	0.49720	0.77;0.77;0.77	5.33	1.57	0.23409	.	0.823352	0.11098	N	0.600023	T	0.30166	0.0756	L	0.40543	1.245	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.23797	-1.0178	10	0.05436	T	0.98	.	5.1402	0.14955	0.5463:0.3528:0.1009:0.0	.	53	Q5VVM6	CCD30_HUMAN	D	53	ENSP00000397035:N53D;ENSP00000340378:N53D;ENSP00000339280:N53D	ENSP00000340378:N53D	N	+	1	0	CCDC30	42777470	1.000000	0.71417	0.996000	0.52242	0.580000	0.36256	1.614000	0.36911	0.011000	0.14865	0.402000	0.26972	AAT	CCDC30	-	NULL	ENSG00000186409		0.313	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	-	0	89	0	A	NM_025030		43004883	1	tier1	-	no_errors	ENST00000340612	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.999	G	G	43004883	A	G	43004883	3	3	91	1	0	0	0	0	1	0	0	0	2812	362	13	4	163	4	CCDC30	1	43004883	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	6235315	43004883	206245738	10	26083											
SLC2A1	6513	genome.wustl.edu	37	chr1	43394677	43394677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgaggtgcagggtccGccggcctgctcgctccacca	5	7	13	16	3	0	1	0	1	0	0	3	1	2	1	6	3	2	3	6	3	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:43394677G>A	ENST00000426263.3	-	8	1178	c.1000C>T	c.(1000-1002)Cgg>Tgg	p.R334W	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	334					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCAGGGTCCGCCGGCCTGCT	0.622																																																	0													97	92	94					1																	43394677		2203	4300	6503	SO:0001583	missense	0			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"Solute carriers"	11005	protein-coding gene	gene with protein product		138140	"human T-cell leukemia virus (I and II) receptor"	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1000C>T	1.37:g.43394677G>A	ENSP00000416293:p.Arg334Trp		A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt	p.R334W	ENST00000426263.3	37	c.1000	CCDS477.1	1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692615	0.88735	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	D	0.84873	-1.91	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.050292	0.85682	D	0.000000	D	0.95802	0.8634	H	0.99507	4.6	0.80722	D	1	D	0.63880	0.993	D	0.63488	0.915	D	0.97705	1.0187	10	0.87932	D	0	.	16.9679	0.86291	0.0:0.0:1.0:0.0	.	334	P11166	GTR1_HUMAN	W	334;334;276	ENSP00000416293:R334W	ENSP00000361579:R334W	R	-	1	2	SLC2A1	43167264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.149000	0.58091	2.601000	0.87937	0.650000	0.86243	CGG	SLC2A1	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000117394		0.622	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A1	HGNC	protein_coding	OTTHUMT00000020358.2	-	0	23	0	G	NM_006516		43394677	-1	tier1	-	no_errors	ENST00000426263	ensembl	human	known	74_37	missense	40.00	9	6	SNP	0.998	A	A	43394677	G	A	43394677	3	1	91	1	0	0	0	0	1	0	0	0	14583	1086	38	1	490	1	SLC2A1	1	43394677	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	389794	43394677	205855944	11	26084											
TSPAN1	10103	genome.wustl.edu	37	chr1	46650025	46650025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctttgctcttggtttcctgGgctgctatggtgctaagact	4	17	11	9	0	2	1	0	0	2	1	3	1	3	1	1	3	3	5	1	3	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:46650025G>C	ENST00000372003.1	+	4	684	c.220G>C	c.(220-222)Ggc>Cgc	p.G74R	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	74					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TGGTTTCCTGGGCTGCTATGG	0.572																																																	0													148	113	125					1																	46650025		2203	4300	6503	SO:0001583	missense	0			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"Tetraspanins"	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.220G>C	1.37:g.46650025G>C	ENSP00000361072:p.Gly74Arg		D3DQ14|O60745|Q5VST0	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G74R	ENST00000372003.1	37	c.220	CCDS530.1	1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601070	0.87055	.	.	ENSG00000117472	ENST00000372003	D	0.95001	-3.58	4.87	3.96	0.45880	Tetraspanin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98472	1.0601	10	0.87932	D	0	.	13.3492	0.60593	0.0763:0.0:0.9237:0.0	.	74	O60635	TSN1_HUMAN	R	74	ENSP00000361072:G74R	ENSP00000361072:G74R	G	+	1	0	TSPAN1	46422612	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.718000	0.84743	1.268000	0.44264	0.557000	0.71058	GGC	TSPAN1	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000117472		0.572	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN1	HGNC	protein_coding	OTTHUMT00000020135.1	-	0	50	0	G	NM_005727		46650025	1	tier1	-	no_errors	ENST00000372003	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	C	C	46650025	G	C	46650025	3	2	91	1	0	0	0	0	1	0	0	0	16681	1232	43	5	226	5	TSPAN1	1	46650025	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3255348	46650025	202600596	12	26085											
LRRC41	10489	genome.wustl.edu	37	chr1	46746102	46746102	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaacaagcccaaaatcctgGggagaggcaaaggtggcact	16	4	12	9	0	0	1	0	0	0	1	1	2	1	1	2	5	2	2	2	5	6	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:46746102G>C	ENST00000343304.6	-	6	2172	c.1887C>G	c.(1885-1887)ccC>ccG	p.P629P	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	629					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CAAAATCCTGGGGAGAGGCAA	0.572																																																	0													92	99	97					1																	46746102		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1887C>G	1.37:g.46746102G>C			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.P629	ENST00000343304.6	37	c.1887	CCDS533.1	1																																																																																			LRRC41	-	NULL	ENSG00000132128		0.572	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	-	0	32	0	G	NM_006369		46746102	-1	tier1	-	no_errors	ENST00000343304	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.995	C	C	46746102	G	C	46746102	2	2	91	1	0	0	0	0	0	0	0	1	9034	1219	43	5		5	LRRC41	1	46746102	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	96077	46746102	202504519	13	26086											
SPATA6	54558	genome.wustl.edu	37	chr1	48821377	48821377	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagcctgatgtgatttcaAgacattttttacccggtcat	10	15	8	8	1	2	4	2	3	0	1	2	4	2	4	2	1	2	0	2	1	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:48821377A>G	ENST00000371847.3	-	11	1323	c.1159T>C	c.(1159-1161)Ttg>Ctg	p.L387L	SPATA6_ENST00000371843.3_Intron|SPATA6_ENST00000396199.3_Silent_p.L315L	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	387					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TGTGATTTCAAGACATTTTTT	0.313																																																	0													93	94	94					1																	48821377		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"spermatogenesis-related factor-1"	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1159T>C	1.37:g.48821377A>G			Q5T3N7|Q8WUE6	Silent	SNP	NULL	p.L387	ENST00000371847.3	37	c.1159	CCDS551.1	1																																																																																			SPATA6	-	NULL	ENSG00000132122		0.313	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1		0	36	0	A	NM_019073		48821377	-1			no_errors	ENST00000371847	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	G	G	48821377	A	G	48821377	2	3	91	1	0	0	0	0	0	0	0	1	15060	69	3	4		4	SPATA6	1	48821377	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2075275	48821377	200429244	14	26087											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52805903	52805903	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaatcagatggacagaGgtaaggaaatgaaacttggc	18	7	12	4	0	1	3	1	1	0	2	1	5	1	5	0	4	1	2	0	4	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:52805903G>A	ENST00000371591.1	+	16	4070	c.3939G>A	c.(3937-3939)gaG>gaA	p.E1313E	ZFYVE9_ENST00000357206.2_Splice_Site_p.E1254E|ZFYVE9_ENST00000287727.3_Splice_Site_p.E1313E	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1313					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATGGACAGAGGTAAGGAAAT	0.378																																																	0													67	64	65					1																	52805903		2203	4300	6503	SO:0001630	splice_region_variant	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3939+1G>A	1.37:g.52805903G>A			Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Silent	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.E1313	ENST00000371591.1	37	c.3939	CCDS563.1	1																																																																																			ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.378	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	-	0	50	0	G	NM_007324	Silent	52805903	1	tier1	-	no_errors	ENST00000287727	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	A	A	52805903	G	A	52805903	5	1	91	1	0	0	0	0	0	0	1	0	17719	1014	35	3	4008	3	ZFYVE9	1	52805903	Splice_Site	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3984526	52805903	196444718	15	26088											
PRPF38A	84950	genome.wustl.edu	37	chr1	52874343	52874343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgactatcgaaaaatcaaGagccagaaccgaaatggggg	18	5	11	7	2	1	3	1	1	0	2	2	5	1	3	2	2	2	0	2	2	7	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:52874343G>C	ENST00000257181.9	+	3	579	c.393G>C	c.(391-393)aaG>aaC	p.K131N	PRPF38A_ENST00000474048.1_Intron|snoU13_ENST00000458879.1_RNA	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	131					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						GAAAAATCAAGAGCCAGAACC	0.418																																																	0													94	87	89					1																	52874343		2203	4300	6503	SO:0001583	missense	0			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.393G>C	1.37:g.52874343G>C	ENSP00000257181:p.Lys131Asn		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.K131N	ENST00000257181.9	37	c.393	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887474	0.72410	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.80982	2.52	0.80722	D	1	D	0.63046	0.992	D	0.64410	0.925	T	0.73861	-0.3849	9	0.52906	T	0.07	-26.7184	7.0073	0.24844	0.212:0.0:0.788:0.0	.	131	Q8NAV1	PR38A_HUMAN	N	131	.	ENSP00000257181:K131N	K	+	3	2	PRPF38A	52646931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.461000	0.53035	2.507000	0.84556	0.557000	0.71058	AAG	PRPF38A	-	pfam_PRP38	ENSG00000134748		0.418	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	-	0	43	0	G	NM_032864		52874343	1	tier1	-	no_errors	ENST00000257181	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	C	C	52874343	G	C	52874343	3	2	91	1	0	0	0	0	1	0	0	0	12609	933	33	5	403	5	PRPF38A	1	52874343	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	68440	52874343	196376278	16	26089											
ZCCHC11	23318	genome.wustl.edu	37	chr1	52991558	52991558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaattaggtgactttGgtgatttttctgcttttgcc	6	19	9	7	0	2	3	1	3	1	0	2	3	2	3	1	2	2	1	1	2	2	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:52991558G>A	ENST00000371544.3	-	2	657	c.395C>T	c.(394-396)cCa>cTa	p.P132L	ZCCHC11_ENST00000355809.4_Missense_Mutation_p.P132L|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.P132L|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	132					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGGTGACTTTGGTGATTTTTC	0.403																																																	0													175	174	174					1																	52991558		2203	4300	6503	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"Zinc fingers, CCHC domain containing"	28981	protein-coding gene	gene with protein product	"TUTase4"	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.395C>T	1.37:g.52991558G>A	ENSP00000360599:p.Pro132Leu		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.P132L	ENST00000371544.3	37	c.395	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	G	6.573	0.474110	0.12521	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809	T;T;T	0.45276	1.04;1.03;0.9	5.08	4.17	0.49024	.	0.919358	0.09289	N	0.822613	T	0.41858	0.1177	L	0.47716	1.5	0.41324	D	0.987195	B;B;P;B	0.45827	0.003;0.006;0.867;0.0	B;B;B;B	0.43103	0.003;0.009;0.408;0.001	T	0.32025	-0.9922	10	0.66056	D	0.02	.	10.9191	0.47154	0.1543:0.0:0.8457:0.0	.	132;132;132;132	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	L	132	ENSP00000257177:P132L;ENSP00000360599:P132L;ENSP00000433486:P132L	ENSP00000257177:P132L	P	-	2	0	ZCCHC11	52764146	1.000000	0.71417	0.976000	0.42696	0.806000	0.45545	2.944000	0.49034	1.473000	0.48159	-0.140000	0.14226	CCA	ZCCHC11	-	NULL	ENSG00000134744		0.403	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	-	0	87	0	G	XM_038288		52991558	-1	tier1	-	no_errors	ENST00000257177	ensembl	human	known	74_37	missense	17.31	43	9	SNP	0.934	A	A	52991558	G	A	52991558	3	1	91	1	0	0	0	0	1	0	0	0	17628	1348	47	3	4658	3	ZCCHC11	1	52991558	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	117215	52991558	196259063	17	26090											
ACOT11	26027	genome.wustl.edu	37	chr1	55059688	55059688	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaaggccttggccaccttCgtggcccgccgagagatcac	7	7	12	15	3	1	1	1	0	0	1	2	3	1	1	5	3	1	1	5	3	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:55059688C>T	ENST00000371316.3	+	5	529	c.447C>T	c.(445-447)ttC>ttT	p.F149F	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.F149F	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	149	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TGGCCACCTTCGTGGCCCGCC	0.632																																					Ovarian(148;1440 1861 22015 32453 51933)												0													65	64	64					1																	55059688		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.447C>T	1.37:g.55059688C>T			B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.F149	ENST00000371316.3	37	c.447	CCDS592.1	1																																																																																			ACOT11	-	NULL	ENSG00000162390		0.632	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1	-	0	22	0	C	NM_015547		55059688	1	tier1	-	no_errors	ENST00000371316	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.991	T	T	55059688	C	T	55059688	2	4	91	1	0	0	0	0	0	0	0	1	149	883	31	1		1	ACOT11	1	55059688	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2068130	55059688	194190933	18	26091											
BSND	7809	genome.wustl.edu	37	chr1	55464886	55464886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgagaagaccttccggatCggcttcattgtgctggggct	7	10	14	10	3	1	2	1	0	0	2	3	5	2	3	2	4	1	3	2	4	1	3	rs371937424		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:55464886C>T	ENST00000371265.4	+	1	281	c.27C>T	c.(25-27)atC>atT	p.I9I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	9					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CCTTCCGGATCGGCTTCATTG	0.627																																					Ovarian(191;1657 2078 22894 42033 48899)												0								C		0,4406		0,0,2203	107	102	104		27	0.1	1	1		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BSND	NM_057176.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		9/321	55464886	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"deafness, autosomal recessive 73", "Bartter syndrome, infantile, with sensorineural deafness (Barttin)"	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.27C>T	1.37:g.55464886C>T			Q6NT28	Silent	SNP	NULL	p.I9	ENST00000371265.4	37	c.27	CCDS602.1	1																																																																																			BSND	-	NULL	ENSG00000162399		0.627	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSND	HGNC	protein_coding	OTTHUMT00000022213.4	-	0	35	0	C	NM_057176		55464886	1	tier1	-	no_errors	ENST00000371265	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.998	T	T	55464886	C	T	55464886	2	4	91	1	0	0	0	0	0	0	0	1	1535	874	31	1		1	BSND	1	55464886	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	405198	55464886	193785735	19	26092											
CLCA2	9635	genome.wustl.edu	37	chr1	86905910	86905910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgataagcttcttggcaAttgcttacccactgtgctca	10	13	8	10	0	2	2	1	1	1	1	2	2	2	2	1	1	4	4	1	1	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:86905910A>G	ENST00000370565.4	+	8	1445	c.1283A>G	c.(1282-1284)aAt>aGt	p.N428S		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	428	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CTTCTTGGCAATTGCTTACCC	0.443																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													156	147	150					1																	86905910		2203	4300	6503	SO:0001583	missense	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"chloride channel, calcium activated, family member 2", "chloride channel regulator 2"				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1283A>G	1.37:g.86905910A>G	ENSP00000359596:p.Asn428Ser		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.N428S	ENST00000370565.4	37	c.1283	CCDS708.1	1	.	.	.	.	.	.	.	.	.	.	A	1.055	-0.674670	0.03378	.	.	ENSG00000137975	ENST00000370565	T	0.13420	2.59	5.77	1.9	0.25705	von Willebrand factor, type A (3);	0.509346	0.21938	N	0.066937	T	0.00906	0.0030	N	0.01874	-0.695	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.47911	-0.9080	10	0.02654	T	1	-7.8873	5.4123	0.16354	0.4181:0.3276:0.2543:0.0	.	428	Q9UQC9	CLCA2_HUMAN	S	428	ENSP00000359596:N428S	ENSP00000359596:N428S	N	+	2	0	CLCA2	86678498	0.000000	0.05858	0.009000	0.14445	0.231000	0.25187	0.409000	0.21082	1.003000	0.39130	0.533000	0.62120	AAT	CLCA2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	ENSG00000137975		0.443	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1	-	0	40	0	A	NM_006536		86905910	1	tier1	-	no_errors	ENST00000370565	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.001	G	G	86905910	A	G	86905910	3	3	91	1	0	0	0	0	1	0	0	0	3465	101	4	4	1313	4	CLCA2	1	86905910	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	31441024	86905910	162344711	20	26093											
BARHL2	343472	genome.wustl.edu	37	chr1	91182393	91182393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggggggcggcggcggCggctgctgtggcggcagcgg	1	5	25	10	6	0	0	0	0	0	0	0	0	0	0	0	10	3	4	0	10	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:91182393C>T	ENST00000370445.4	-	1	401	c.360G>A	c.(358-360)ccG>ccA	p.P120P		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	120	Gln/Pro-rich.				cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		gcggcggcggcggctgctgtg	0.687																																					GBM(199;3561 4100 22440)												0													3	4	4					1																	91182393		1762	3518	5280	SO:0001819	synonymous_variant	0			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.360G>A	1.37:g.91182393C>T			A0AVP2|Q7Z4N7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P120	ENST00000370445.4	37	c.360	CCDS730.1	1																																																																																			BARHL2	-	NULL	ENSG00000143032		0.687	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2		0	26	0	C			91182393	-1			no_errors	ENST00000370445	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.906	T	T	91182393	C	T	91182393	2	4	91	1	0	0	0	0	0	0	0	1	1315	755	27	1		1	BARHL2	1	91182393	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4276483	91182393	158068228	21	26094											
BRDT	676	genome.wustl.edu	37	chr1	92447228	92447230	+	In_Frame_Del	DEL	AGC	AGC	-																															atgtttcccgactgagtgagAgcagcagcagcagcagcagc																								rs375773077		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:92447228_92447230delAGC	ENST00000362005.3	+	13	2336_2338	c.1918_1920delAGC	c.(1918-1920)agcdel	p.S648del	BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000370389.2_In_Frame_Del_p.S575del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	648	Ser-rich.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACTGAGTGAGagcagcagcagca	0.419																																																	0																																										SO:0001651	inframe_deletion	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1918_1920delAGC	1.37:g.92447237_92447239delAGC	ENSP00000354568:p.Ser648del		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	In_Frame_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S643in_frame_del	ENST00000362005.3	37	c.1918_1920	CCDS735.1	1																																																																																			BRDT	-	NULL	ENSG00000137948		0.419	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2		0	29	0	AGC	NM_207189		92447230	1	tier1		no_errors	ENST00000362005	ensembl	human	known	74_37	in_frame_del	10.53	17	2	DEL	0.989:0.998:1.000	-	-	92447230	AGC	-	92447228	7	5	91	1	0	1	0	1	0	0	0	0	1512	304	11	0	1960	0	BRDT	1	92447228	In_Frame_Del	DEL	AGC	TCGA-L5-A8NS-01A-12D-A37C-09	1264835	92447228	156803393	22	26095											
COL11A1	1301	genome.wustl.edu	37	chr1	103544425	103544425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtcttctgggaaagttcCacctgagaagaaaaggccaa	16	7	10	8	0	2	2	0	1	2	2	3	4	3	3	3	2	0	1	3	2	6	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:103544425C>T	ENST00000370096.3	-	3	589	c.277G>A	c.(277-279)Gga>Aga	p.G93R	COL11A1_ENST00000358392.2_Missense_Mutation_p.G93R|COL11A1_ENST00000512756.1_Missense_Mutation_p.G93R|COL11A1_ENST00000353414.4_Missense_Mutation_p.G93R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	93	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGGAAAGTTCCACCTGAGAAG	0.318																																																	0													22	24	24					1																	103544425		2182	4291	6473	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.277G>A	1.37:g.103544425C>T	ENSP00000359114:p.Gly93Arg		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G93R	ENST00000370096.3	37	c.277	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004678	0.74932	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239;ENST00000447608	T;T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28;4.28	5.73	5.73	0.89815	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.117593	0.64402	D	0.000019	T	0.12518	0.0304	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.57257	0.964;0.979;0.979;0.964	P;P;P;P	0.56042	0.621;0.79;0.79;0.621	T	0.01795	-1.1272	10	0.87932	D	0	.	19.8984	0.96975	0.0:1.0:0.0:0.0	.	93;93;93;93	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	R	93;93;93;93;93;20	ENSP00000359114:G93R;ENSP00000351163:G93R;ENSP00000302551:G93R;ENSP00000426533:G93R;ENSP00000408640:G93R;ENSP00000410177:G20R	ENSP00000302551:G93R	G	-	1	0	COL11A1	103317013	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.920000	0.63390	2.713000	0.92767	0.655000	0.94253	GGA	COL11A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000060718		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	62	0	C	NM_080630		103544425	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	T	T	103544425	C	T	103544425	3	4	91	1	0	0	0	0	1	0	0	0	3674	603	21	3	5560	3	COL11A1	1	103544425	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	11097197	103544425	145706196	23	26096											
GNAT2	2780	genome.wustl.edu	37	chr1	110152713	110152713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtggtcatggcccggatGatagccaggatggactgcag	9	8	16	8	1	1	1	1	1	0	0	1	4	1	4	2	5	2	1	2	5	1	1	rs371604259		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:110152713G>A	ENST00000351050.3	-	3	438	c.252C>T	c.(250-252)atC>atT	p.I84I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	84					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGCCCGGATGATAGCCAGGA	0.493																																																	0													253	219	231					1																	110152713		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.252C>T	1.37:g.110152713G>A				Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.I84	ENST00000351050.3	37	c.252	CCDS803.1	1																																																																																			GNAT2	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I	ENSG00000134183		0.493	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	-	0	36	0	G	NM_005272		110152713	-1	tier1	-	no_errors	ENST00000351050	ensembl	human	known	74_37	silent	28.57	10	4	SNP	1.000	A	A	110152713	G	A	110152713	2	1	91	1	0	0	0	0	0	0	0	1	6538	1280	45	3		3	GNAT2	1	110152713	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	6608288	110152713	139097908	24	26097											
SEC22B	9554	genome.wustl.edu	37	chr1	145112376	145112376	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcttcatcattctagataCtttcattcagaaaaccaaga	14	15	3	9	0	6	3	4	0	2	3	6	3	6	3	1	0	2	0	1	0	5	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:145112376C>G	ENST00000453618.1	+	0	677							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ATTCTAGATACTTTCATTCAG	0.428																																																	0													103	89	94					1																	145112376		1997	4179	6176			0			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"SEC22, vesicle trafficking protein (S. cerevisiae)-like 1", "SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)", "SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145112376C>G			A8K1G0	RNA	SNP	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-	ENSG00000223380		0.428	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5	-	0	85	0	C	NM_004892		145112376	1	tier1	-	no_errors	ENST00000453618	ensembl	human	known	74_37	rna	7.35	63	5	SNP	1.000	G	G	145112376	C	G	145112376	1	3	91	0	1	0	0	0	0	0	0	0	14034	565	20	5		5	SEC22B	1	145112376	RNA	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	34959663	145112376	104138245	25	26098											
HFE2	148738	genome.wustl.edu	37	chr1	145416492	145416493	+	Frame_Shift_Del	DEL	CT	CT	-																															catgtggagatccaagctgcCtacattggcacaactataat																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:145416492_145416493delCT	ENST00000336751.5	+	4	1075_1076	c.837_838delCT	c.(835-840)gcctacfs	p.Y280fs	HFE2_ENST00000475797.1_Frame_Shift_Del_p.Y54fs|HFE2_ENST00000497365.1_Frame_Shift_Del_p.Y54fs|HFE2_ENST00000357836.5_Frame_Shift_Del_p.Y167fs	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	280					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAAGCTGCCTACATTGGCAC	0.515																																																	0																																										SO:0001589	frameshift_variant	0			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"repulsive guidance molecule c"	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.837_838delCT	1.37:g.145416492_145416493delCT	ENSP00000337014:p.Tyr280fs		B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Frame_Shift_Del	DEL	pfam_RGM_N,pfam_RGM_C	p.Y280fs	ENST00000336751.5	37	c.837_838	CCDS910.1	1																																																																																			HFE2	-	pfam_RGM_C	ENSG00000168509		0.515	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HFE2	HGNC	protein_coding	OTTHUMT00000038527.1		0	53	0	CT	NM_145277		145416493	1	tier1		no_errors	ENST00000336751	ensembl	human	known	74_37	frame_shift_del	17.14	29	6	DEL	0.996:1.000	-	-	145416493	CT	-	145416492	7	5	91	1	0	1	0	1	0	0	0	0	7109	668	24	0	847	0	HFE2	1	145416492	Frame_Shift_Del	DEL	CT	TCGA-L5-A8NS-01A-12D-A37C-09	304116	145416492	103834129	26	26099											
CA14	23632	genome.wustl.edu	37	chr1	150235229	150235229	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactaagaatatagcttaTgaacacattctgagtcactt	15	12	7	7	0	2	4	1	2	1	2	2	5	2	4	0	0	2	1	0	0	6	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:150235229T>G	ENST00000369111.4	+	6	1492	c.522T>G	c.(520-522)taT>taG	p.Y174*	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	174					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	ATATAGCTTATGAACACATTC	0.353																																																	0													110	115	113					1																	150235229		2203	4300	6503	SO:0001587	stop_gained	0			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"Carbonic anhydrases"	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.522T>G	1.37:g.150235229T>G	ENSP00000358107:p.Tyr174*		Q5TB24|Q8NCF4	Nonsense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Y174*	ENST00000369111.4	37	c.522	CCDS947.1	1	.	.	.	.	.	.	.	.	.	.	T	37	6.301787	0.97458	.	.	ENSG00000118298	ENST00000369111	.	.	.	6.17	1.42	0.22433	.	0.117737	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7726	0.34742	0.0:0.2902:0.0:0.7098	.	.	.	.	X	174	.	ENSP00000358107:Y174X	Y	+	3	2	CA14	148501853	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.728000	0.26013	0.204000	0.20548	-1.151000	0.01829	TAT	CA14	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000118298		0.353	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA14	HGNC	protein_coding	OTTHUMT00000035064.2		0	31	0	T	NM_012113		150235229	1			no_errors	ENST00000369111	ensembl	human	known	74_37	nonsense	9.52	19	2	SNP	1.000	G	G	150235229	T	G	150235229	4	3	91	1	0	0	0	0	0	1	0	0	2522	1471	51	4	544	4	CA14	1	150235229	Nonsense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	4818737	150235229	99015392	27	26100											
LINGO4	339398	genome.wustl.edu	37	chr1	151775030	151775030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccaggtacagcctccaGttgcctgtggccacagagca	8	8	10	15	0	0	1	0	0	0	1	3	1	3	1	6	2	4	3	6	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:151775030G>T	ENST00000368820.3	-	2	1088	c.151C>A	c.(151-153)Ctg>Atg	p.L51M		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	51	LRRNT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGCCTCCAGTTGCCTGTGG	0.652																																																	0													33	23	27					1																	151775030		2202	4296	6498	SO:0001583	missense	0				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"Immunoglobulin superfamily / I-set domain containing"	31814	protein-coding gene	gene with protein product		609794	"leucine rich repeat neuronal 6D"	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.151C>A	1.37:g.151775030G>T	ENSP00000357810:p.Leu51Met			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L51M	ENST00000368820.3	37	c.151	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308458	0.60305	.	.	ENSG00000213171	ENST00000368820	D	0.82167	-1.58	5.41	5.41	0.78517	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.37857	N	0.001909	D	0.88603	0.6481	M	0.82630	2.6	0.58432	D	0.999997	D	0.61080	0.989	P	0.57911	0.829	D	0.88958	0.3391	10	0.56958	D	0.05	.	16.7425	0.85463	0.0:0.0:1.0:0.0	.	51	Q6UY18	LIGO4_HUMAN	M	51	ENSP00000357810:L51M	ENSP00000357810:L51M	L	-	1	2	LINGO4	150041654	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.527000	0.60573	2.822000	0.97130	0.557000	0.71058	CTG	LINGO4	-	smart_LRR-contain_N	ENSG00000213171		0.652	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	-	0	36	0	G	XM_291387		151775030	-1	tier1	-	no_errors	ENST00000368820	ensembl	human	known	74_37	missense	16.67	19	4	SNP	1.000	T	T	151775030	G	T	151775030	3	4	91	1	0	0	0	0	1	0	0	0	8847	1020	36	3	1634	3	LINGO4	1	151775030	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1539801	151775030	97475591	28	26101											
KPRP	448834	genome.wustl.edu	37	chr1	152733635	152733635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtccacaccgcctagAcaccgaagctccctactgtg	9	8	8	16	2	1	1	0	0	1	1	3	2	3	1	5	0	2	1	5	0	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:152733635A>G	ENST00000606109.1	+	1	1599	c.1571A>G	c.(1570-1572)gAc>gGc	p.D524G	KPRP_ENST00000368773.1_Missense_Mutation_p.D524G			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	524						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCGCCTAGACACCGAAGCT	0.607																																																	0													72	68	70					1																	152733635		2203	4300	6503	SO:0001583	missense	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1571A>G	1.37:g.152733635A>G	ENSP00000475216:p.Asp524Gly			Missense_Mutation	SNP	NULL	p.D524G	ENST00000606109.1	37	c.1571	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.237471	0.58886	.	.	ENSG00000203786	ENST00000368773	T	0.25250	1.81	4.61	4.61	0.57282	.	0.000000	0.48767	D	0.000179	T	0.33411	0.0862	L	0.54323	1.7	0.39453	D	0.967437	D	0.89917	1.0	D	0.91635	0.999	T	0.11991	-1.0565	10	0.62326	D	0.03	-15.6362	10.5778	0.45238	1.0:0.0:0.0:0.0	.	524	Q5T749	KPRP_HUMAN	G	524	ENSP00000357762:D524G	ENSP00000357762:D524G	D	+	2	0	KPRP	151000259	0.997000	0.39634	0.746000	0.31095	0.301000	0.27625	2.365000	0.44196	2.066000	0.61787	0.379000	0.24179	GAC	KPRP	-	NULL	ENSG00000203786		0.607	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	HGNC	protein_coding	OTTHUMT00000034522.2	-	0	26	0	A	NM_001025231		152733635	1	tier1	-	no_errors	ENST00000368773	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.978	G	G	152733635	A	G	152733635	3	3	91	1	0	0	0	0	1	0	0	0	8463	275	10	4	1573	4	KPRP	1	152733635	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	958605	152733635	96516986	29	26102											
GBA	2629	genome.wustl.edu	37	chr1	155208054	155208054	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggctggcaaggagtgaaAcgggacgctgggccaactgc	10	4	18	9	2	0	1	0	1	0	0	0	3	0	3	1	6	3	3	1	6	3	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:155208054A>T	ENST00000327247.5	-	7	864	c.632T>A	c.(631-633)gTt>gAt	p.V211D	GBA_ENST00000428024.3_Missense_Mutation_p.V124D|GBA_ENST00000427500.3_Missense_Mutation_p.V162D|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.V211D|GBA_ENST00000536770.1_Missense_Mutation_p.V98D|AL713999.1_ENST00000401290.1_RNA	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	211					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	AAGGAGTGAAACGGGACGCTG	0.562									Gaucher disease type I																																								0													46	40	42					1																	155208054		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)"	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.632T>A	1.37:g.155208054A>T	ENSP00000314508:p.Val211Asp		A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Missense_Mutation	SNP	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30	p.V211D	ENST00000327247.5	37	c.632	CCDS1102.1	1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.826501	0.32329	.	.	ENSG00000177628	ENST00000427500;ENST00000428024;ENST00000368373;ENST00000327247;ENST00000536770;ENST00000536555;ENST00000402928	D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69	3.66	2.54	0.30619	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.720633	0.12683	N	0.447843	D	0.97365	0.9138	L	0.46157	1.445	0.18873	N	0.999984	B;D;P	0.53619	0.425;0.961;0.883	P;P;P	0.51615	0.466;0.668;0.675	D	0.94729	0.7908	10	0.87932	D	0	.	5.1017	0.14762	0.8625:0.0:0.1375:0.0	.	162;98;211	B7Z5G2;F5H241;P04062	.;.;GLCM_HUMAN	D	162;124;211;211;98;168;196	ENSP00000402577:V162D;ENSP00000397986:V124D;ENSP00000357357:V211D;ENSP00000314508:V211D;ENSP00000445560:V98D	ENSP00000314508:V211D	V	-	2	0	GBA	153474678	0.897000	0.30589	0.073000	0.20177	0.077000	0.17291	6.455000	0.73497	1.663000	0.50791	0.248000	0.18094	GTT	GBA	-	pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF	ENSG00000177628		0.562	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GBA	HGNC	protein_coding	OTTHUMT00000087204.1	-	0	80	0	A	NM_000157		155208054	-1	tier1	-	no_errors	ENST00000327247	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.083	T	T	155208054	A	T	155208054	3	4	91	1	0	0	0	0	1	0	0	0	6291	43	2	5	1002	5	GBA	1	155208054	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2474419	155208054	94042567	30	26103											
FCRL5	83416	genome.wustl.edu	37	chr1	157514250	157514250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctgacctctctagagAgagctgggtctcacaggtca	10	9	11	11	0	4	3	2	1	3	2	6	5	4	3	1	2	1	1	1	2	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:157514250A>G	ENST00000361835.3	-	5	803	c.646T>C	c.(646-648)Tct>Cct	p.S216P	FCRL5_ENST00000368189.3_Missense_Mutation_p.S216P|FCRL5_ENST00000368190.3_Missense_Mutation_p.S216P|FCRL5_ENST00000368191.3_Missense_Mutation_p.S131P|FCRL5_ENST00000356953.4_Missense_Mutation_p.S216P	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	216	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTCTCTAGAGAGAGCTGGGTC	0.557																																																	0													96	99	98					1																	157514250		2203	4300	6503	SO:0001583	missense	0			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.646T>C	1.37:g.157514250A>G	ENSP00000354691:p.Ser216Pro		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S216P	ENST00000361835.3	37	c.646	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	A	6.762	0.509477	0.12883	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83	4.17	-4.98	0.03019	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.840650	0.01633	N	0.023651	T	0.02418	0.0074	L	0.33245	0.995	0.20975	N	0.999816	B;B;B;B;B	0.16802	0.008;0.008;0.019;0.006;0.019	B;B;B;B;B	0.24701	0.011;0.009;0.035;0.01;0.055	T	0.40308	-0.9570	10	0.26408	T	0.33	.	7.1631	0.25675	0.5244:0.1178:0.3578:0.0	.	131;216;216;216;216	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	P	216;216;216;131;216	ENSP00000354691:S216P;ENSP00000349434:S216P;ENSP00000357173:S216P;ENSP00000357174:S131P;ENSP00000357172:S216P	ENSP00000349434:S216P	S	-	1	0	FCRL5	155780874	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-4.062000	0.00303	-0.986000	0.03498	-0.456000	0.05471	TCT	FCRL5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143297		0.557	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	HGNC	protein_coding	OTTHUMT00000046263.1	-	0	33	0	A	NM_031281		157514250	-1	tier1	-	no_errors	ENST00000356953	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.004	G	G	157514250	A	G	157514250	3	3	91	1	0	0	0	0	1	0	0	0	5820	304	11	4	2339	4	FCRL5	1	157514250	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2306196	157514250	91736371	31	26104											
CRP	1401	genome.wustl.edu	37	chr1	159683718	159683718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccacccactgtaaaactgTatcctatatccttagaccaa	14	10	3	14	0	0	1	0	0	0	1	2	1	2	1	5	0	1	2	5	0	7	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:159683718T>C	ENST00000255030.5	-	2	375	c.272A>G	c.(271-273)tAc>tGc	p.Y91C	CRP_ENST00000437342.1_De_novo_Start_OutOfFrame|CRP_ENST00000368111.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000343919.2_Intron|CRP_ENST00000473196.1_5'Flank	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	91	Pentaxin.			Missing (in Ref. 13; AA sequence). {ECO:0000305}.	acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	TGTAAAACTGTATCCTATATC	0.453																																																	0													109	107	108					1																	159683718		2203	4300	6503	SO:0001583	missense	0			M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"pentraxin 1"	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.272A>G	1.37:g.159683718T>C	ENSP00000255030:p.Tyr91Cys		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.Y91C	ENST00000255030.5	37	c.272	CCDS30911.1	1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502577	0.44455	.	.	ENSG00000132693	ENST00000255030	T	0.09163	3.01	4.97	-8.04	0.01110	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.458214	0.22588	N	0.058122	T	0.10723	0.0262	M	0.76170	2.325	0.20307	N	0.999917	D	0.89917	1.0	D	0.97110	1.0	T	0.01791	-1.1273	10	0.59425	D	0.04	-10.7565	5.4035	0.16308	0.5196:0.1451:0.0:0.3353	.	91	P02741	CRP_HUMAN	C	91	ENSP00000255030:Y91C	ENSP00000255030:Y91C	Y	-	2	0	CRP	157950342	0.143000	0.22626	0.000000	0.03702	0.003000	0.03518	0.326000	0.19646	-0.822000	0.04306	0.528000	0.53228	TAC	CRP	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000132693		0.453	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRP	HGNC	protein_coding	OTTHUMT00000085553.1	-	0	43	0	T	NM_000567		159683718	-1	tier1	-	no_errors	ENST00000255030	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.000	C	C	159683718	T	C	159683718	3	2	91	1	0	0	0	0	1	0	0	0	3902	1638	57	4	406	4	CRP	1	159683718	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	2169468	159683718	89566903	32	26105											
CD244	51744	genome.wustl.edu	37	chr1	160811200	160811200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatccctggagaccaagCaagacagagccacttggcat	12	6	10	13	0	0	3	0	0	0	3	1	4	1	3	4	2	3	2	4	2	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:160811200C>T	ENST00000368033.3	-	3	552	c.470G>A	c.(469-471)tGc>tAc	p.C157Y	CD244_ENST00000368032.2_Missense_Mutation_p.C152Y|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Missense_Mutation_p.C152Y|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	157	Ig-like 2.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGAGACCAAGCAAGACAGAGC	0.542																																																	0													153	136	142					1																	160811200		2203	4300	6503	SO:0001583	missense	0			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18171	protein-coding gene	gene with protein product		605554	"natural killer cell receptor 2B4", "CD244 natural killer cell receptor 2B4"			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.470G>A	1.37:g.160811200C>T	ENSP00000357012:p.Cys157Tyr		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like_dom	p.C157Y	ENST00000368033.3	37	c.470	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833820	0.71258	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000368032	D;D;D	0.94537	-3.45;-3.45;-3.45	4.73	4.73	0.59995	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	M	0.84511	2.7	0.43095	D	0.994771	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97512	1.0067	10	0.87932	D	0	-15.6026	13.5848	0.61924	0.0:1.0:0.0:0.0	.	157;152	Q9BZW8;Q9BZW8-2	CD244_HUMAN;.	Y	152;157;152	ENSP00000357013:C152Y;ENSP00000357012:C157Y;ENSP00000357011:C152Y	ENSP00000357011:C152Y	C	-	2	0	CD244	159077824	1.000000	0.71417	0.287000	0.24848	0.370000	0.29829	3.464000	0.53057	2.353000	0.79882	0.655000	0.94253	TGC	CD244	-	pfscan_Ig-like_dom	ENSG00000122223		0.542	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	-	0	41	0	C	NM_016382		160811200	-1	tier1	-	no_errors	ENST00000368033	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.980	T	T	160811200	C	T	160811200	3	4	91	1	0	0	0	0	1	0	0	0	2994	710	25	3	670	3	CD244	1	160811200	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1127482	160811200	88439421	33	26106											
ASTN1	460	genome.wustl.edu	37	chr1	177001973	177001973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagatggacagcagcagagCgatcatgccaccctaggaag	14	4	12	11	1	1	2	1	0	0	2	1	5	1	4	2	2	4	2	2	2	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:177001973C>T	ENST00000367654.3	-	3	695	c.484G>A	c.(484-486)Gct>Act	p.A162T	ASTN1_ENST00000361833.2_Missense_Mutation_p.A162T|ASTN1_ENST00000367657.3_Missense_Mutation_p.A162T|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.A162T	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	162					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCAGCAGAGCGATCATGCCA	0.582																																																	0													50	46	47					1																	177001973		2203	4299	6502	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.484G>A	1.37:g.177001973C>T	ENSP00000356626:p.Ala162Thr		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.A162T	ENST00000367654.3	37	c.484		1	.	.	.	.	.	.	.	.	.	.	C	33	5.213461	0.95069	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.18338	2.22;2.64;2.64;2.23	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.35008	0.0917	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.996;0.994;0.994	T	0.05194	-1.0900	10	0.66056	D	0.02	-9.6878	18.8102	0.92054	0.0:1.0:0.0:0.0	.	162;162;162	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	T	162	ENSP00000356629:A162T;ENSP00000354536:A162T;ENSP00000356626:A162T;ENSP00000395041:A162T	ENSP00000354536:A162T	A	-	1	0	ASTN1	175268596	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.676000	0.84012	2.509000	0.84616	0.655000	0.94253	GCT	ASTN1	-	NULL	ENSG00000152092		0.582	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding			0	27	0	C	NM_004319		177001973	-1			no_errors	ENST00000367654	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	177001973	C	T	177001973	3	4	91	1	0	0	0	0	1	0	0	0	1065	768	27	1	3488	1	ASTN1	1	177001973	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	16190773	177001973	72248648	34	26107											
SEC16B	89866	genome.wustl.edu	37	chr1	177905447	177905447	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacctgtggtttggaaaTgacctcttggccatcaggag	8	12	11	10	0	3	1	2	1	2	0	4	3	3	3	3	4	0	1	3	4	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:177905447T>A	ENST00000308284.6	-	20	2646	c.2557A>T	c.(2557-2559)Att>Ttt	p.I853F	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	853					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTTTGGAAATGACCTCTTGG	0.468																																																	0													140	138	138					1																	177905447		2016	4190	6206	SO:0001583	missense	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2557A>T	1.37:g.177905447T>A	ENSP00000308339:p.Ile853Phe		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.I853F	ENST00000308284.6	37	c.2557	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732227	0.30684	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.14266	2.52	4.88	-1.74	0.08056	.	1.566720	0.03419	N	0.206069	T	0.13457	0.0326	L	0.59436	1.845	0.09310	N	1	P;P;P;P	0.42409	0.744;0.779;0.779;0.61	B;B;B;B	0.36666	0.23;0.125;0.125;0.125	T	0.30650	-0.9971	10	0.49607	T	0.09	0.0086	4.7921	0.13254	0.1455:0.2278:0.0:0.6267	.	408;854;853;550	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	F	853;537;568	ENSP00000308339:I853F	ENSP00000239472:I568F	I	-	1	0	AL359075.1	176172070	0.000000	0.05858	0.000000	0.03702	0.507000	0.33981	-1.660000	0.01974	-0.374000	0.07967	0.533000	0.62120	ATT	SEC16B	-	NULL	ENSG00000120341		0.468	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16	-	0	57	0	T	NM_033127		177905447	-1	tier1	-	no_errors	ENST00000308284	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.002	A	A	177905447	T	A	177905447	3	1	91	1	0	0	0	0	1	0	0	0	14032	1464	51	5	653	5	SEC16B	1	177905447	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	903474	177905447	71345174	35	26108											
RASAL2	9462	genome.wustl.edu	37	chr1	178411903	178411903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttctgcgaactgtgcCttgatgataccctctttgct	8	16	7	10	1	2	2	0	2	2	0	2	3	2	2	2	0	5	1	2	0	4	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:178411903C>A	ENST00000462775.1	+	6	702	c.577C>A	c.(577-579)Ctt>Att	p.L193I	RASAL2_ENST00000367649.3_Missense_Mutation_p.L341I|RASAL2_ENST00000448150.3_Missense_Mutation_p.L323I	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	193	C2.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CGAACTGTGCCTTGATGATAC	0.423																																																	0													90	89	89					1																	178411903		2203	4300	6503	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.577C>A	1.37:g.178411903C>A	ENSP00000420558:p.Leu193Ile		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.L341I	ENST00000462775.1	37	c.1021	CCDS1322.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376087	0.82682	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.71579	-0.58;-0.58;-0.58	5.75	4.83	0.62350	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.138314	0.49305	D	0.000146	D	0.85191	0.5640	M	0.83852	2.665	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.994	D	0.87812	0.2632	10	0.87932	D	0	.	16.102	0.81178	0.1351:0.8649:0.0:0.0	.	193;341	Q9UJF2;F8W755	NGAP_HUMAN;.	I	323;341;193	ENSP00000407768:L323I;ENSP00000356621:L341I;ENSP00000420558:L193I	ENSP00000356621:L341I	L	+	1	0	RASAL2	176678526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	1.408000	0.46895	0.650000	0.86243	CTT	RASAL2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000075391		0.423	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	-	0	55	0	C	NM_170692		178411903	1	tier1	-	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	A	A	178411903	C	A	178411903	3	1	91	1	0	0	0	0	1	0	0	0	13109	681	24	3	1068	3	RASAL2	1	178411903	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	506456	178411903	70838718	36	26109											
HMCN1	83872	genome.wustl.edu	37	chr1	186039872	186039872	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttctgcctccctcagcTggtacaaggatggacaggcc	7	10	10	14	0	2	0	1	0	1	0	4	2	4	2	4	4	3	2	4	4	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:186039872T>A	ENST00000271588.4	+	52	8351	c.8122T>A	c.(8122-8124)Tgg>Agg	p.W2708R	HMCN1_ENST00000367492.2_Missense_Mutation_p.W2708R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2708	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCCCTCAGCTGGTACAAGGA	0.398																																																	0													119	112	114					1																	186039872		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8122T>A	1.37:g.186039872T>A	ENSP00000271588:p.Trp2708Arg		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.W2708R	ENST00000271588.4	37	c.8122	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.508916	0.85282	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.96300	-3.97;-3.97	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.99391	4.545	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98903	1.0777	10	0.87932	D	0	.	15.9869	0.80160	0.0:0.0:0.0:1.0	.	2708	Q96RW7	HMCN1_HUMAN	R	2708	ENSP00000271588:W2708R;ENSP00000356462:W2708R	ENSP00000271588:W2708R	W	+	1	0	HMCN1	184306495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.839000	0.86812	2.171000	0.68590	0.533000	0.62120	TGG	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	39	0	T	NM_031935		186039872	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	A	A	186039872	T	A	186039872	3	1	91	1	0	0	0	0	1	0	0	0	7247	1580	55	5	8328	5	HMCN1	1	186039872	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	7627969	186039872	63210749	37	26110											
NR5A2	2494	genome.wustl.edu	37	chr1	200017357	200017357	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttgggccaatgtacaagaGagacagggccctgaagcaac	13	6	13	9	0	0	3	0	1	0	2	0	4	0	3	2	2	3	3	2	2	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:200017357G>C	ENST00000367362.3	+	5	767	c.521G>C	c.(520-522)aGa>aCa	p.R174T	NR5A2_ENST00000236914.3_Missense_Mutation_p.R128T|NR5A2_ENST00000544748.1_Missense_Mutation_p.R102T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	174					bile acid metabolic process (GO:0008206)|cholesterol homeostasis (GO:0042632)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|homeostatic process (GO:0042592)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral genome replication (GO:0045070)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|phospholipid binding (GO:0005543)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					ATGTACAAGAGAGACAGGGCC	0.522																																					Melanoma(179;1138 2773 15678 26136)												0													116	112	113					1																	200017357		2203	4300	6503	SO:0001583	missense	0			U93553	CCDS1400.1, CCDS1401.1, CCDS60383.1	1q32.11	2013-01-16			ENSG00000116833	ENSG00000116833		"Nuclear hormone receptors"	7984	protein-coding gene	gene with protein product	"liver receptor homolog-1"	604453		FTF		9858833, 7680097	Standard	NM_205860		Approved	FTZ-F1beta, hB1F, LRH-1, FTZ-F1, hB1F-2, B1F2	uc001gvb.4	O00482	OTTHUMG00000035635	ENST00000367362.3:c.521G>C	1.37:g.200017357G>C	ENSP00000356331:p.Arg174Thr		B4E2P3|O95642|Q147U3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R174T	ENST00000367362.3	37	c.521	CCDS1401.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.882567|4.882567	0.91740|0.91740	.|.	.|.	ENSG00000116833|ENSG00000116833	ENST00000367357|ENST00000367362;ENST00000236914;ENST00000544748;ENST00000235480	.|D;D;D	.|0.94862	.|-3.5;-3.54;-3.52	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97090|0.97090	0.9049|0.9049	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;P	.|0.57257	.|0.979;0.956	.|D;P	.|0.64687	.|0.928;0.903	D|D	0.96248|0.96248	0.9181|0.9181	5|9	.|.	.|.	.|.	.|.	20.3316|20.3316	0.98722|0.98722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|128;174	.|F1D8R9;O00482	.|.;NR5A2_HUMAN	Q|T	95|174;128;102;94	.|ENSP00000356331:R174T;ENSP00000236914:R128T;ENSP00000439116:R102T	.|.	E|R	+|+	1|2	0|0	NR5A2|NR5A2	198283980|198283980	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.747000|9.747000	0.98863|0.98863	2.871000|2.871000	0.98454|0.98454	0.655000|0.655000	0.94253|0.94253	GAG|AGA	NR5A2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1	ENSG00000116833		0.522	NR5A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR5A2	HGNC	protein_coding	OTTHUMT00000086497.2		0	38	0	G			200017357	1			no_errors	ENST00000367362	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	C	C	200017357	G	C	200017357	3	2	91	1	0	0	0	0	1	0	0	0	10675	942	33	5	539	5	NR5A2	1	200017357	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	13977485	200017357	49233264	38	26111											
NAV1	89796	genome.wustl.edu	37	chr1	201780815	201780815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcccctggtgattctattgGatgacctgagtgaagcaggc	8	11	13	9	0	1	4	0	4	1	0	1	5	1	5	3	3	2	1	3	3	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:201780815G>T	ENST00000367296.4	+	25	5302	c.4882G>T	c.(4882-4884)Gat>Tat	p.D1628Y	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.D1568Y|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.D1581Y|NAV1_ENST00000295624.6_Missense_Mutation_p.D1625Y|NAV1_ENST00000367295.1_Missense_Mutation_p.D1234Y|NAV1_ENST00000367297.4_Missense_Mutation_p.D1620Y	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1628					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATTCTATTGGATGACCTGAG	0.468																																																	0													160	156	157					1																	201780815		2203	4300	6503	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4882G>T	1.37:g.201780815G>T	ENSP00000356265:p.Asp1628Tyr		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D1628Y	ENST00000367296.4	37	c.4882	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854757	0.91355	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	D;D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.97864	0.9298	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98523	1.0624	10	0.87932	D	0	-23.575	18.893	0.92412	0.0:0.0:1.0:0.0	.	1234;1625	Q8NEY1-5;Q8NEY1-3	.;.	Y	1581;1628;1625;1620;1568;1234;36	ENSP00000356271:D1581Y;ENSP00000356265:D1628Y;ENSP00000295624:D1625Y;ENSP00000356266:D1620Y;ENSP00000356269:D1568Y;ENSP00000356264:D1234Y	ENSP00000295624:D1625Y	D	+	1	0	NAV1	200047438	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.783000	0.99037	2.634000	0.89283	0.555000	0.69702	GAT	NAV1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000134369		0.468	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0	42	0	G	NM_020443		201780815	1	tier1	-	no_errors	ENST00000367296	ensembl	human	known	74_37	missense	30.00	14	6	SNP	1.000	T	T	201780815	G	T	201780815	3	4	91	1	0	0	0	0	1	0	0	0	10221	1174	41	3	5037	3	NAV1	1	201780815	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1763458	201780815	47469806	39	26112											
KLHL12	59349	genome.wustl.edu	37	chr1	202887395	202887395	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggaaaatgcttctggctAaaaacctcagctgcttgcat	12	11	8	10	0	3	0	2	0	1	0	3	1	3	1	1	2	5	5	1	2	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:202887395A>G	ENST00000367261.3	-	4	689	c.471T>C	c.(469-471)ttT>ttC	p.F157F	KLHL12_ENST00000435533.3_Silent_p.F195F	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	157	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCTTCTGGCTAAAAACCTCAG	0.433																																																	0													160	150	153					1																	202887395		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.471T>C	1.37:g.202887395A>G			A6NEN8|B7Z7B8|Q9HBX5	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F195	ENST00000367261.3	37	c.585	CCDS1429.1	1																																																																																			KLHL12	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000117153		0.433	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	HGNC	protein_coding	OTTHUMT00000099151.1	-	0	23	0	A	NM_021633		202887395	-1	tier1	-	no_errors	ENST00000435533	ensembl	human	known	74_37	silent	27.78	13	5	SNP	1.000	G	G	202887395	A	G	202887395	2	3	91	1	0	0	0	0	0	0	0	1	8395	359	13	4		4	KLHL12	1	202887395	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	1106580	202887395	46363226	40	26113											
CNTN2	6900	genome.wustl.edu	37	chr1	205035662	205035662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttcgacaaccacagccCcatcgctaagtacaccctgc	10	7	7	17	2	0	0	0	0	0	0	2	1	0	0	4	1	4	3	4	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:205035662C>T	ENST00000331830.4	+	15	2194	c.1910C>T	c.(1909-1911)cCc>cTc	p.P637L		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	637	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AACCACAGCCCCATCGCTAAG	0.617																																					Melanoma(183;2548 2817 37099 41192)												0													91	66	74					1																	205035662		2203	4300	6503	SO:0001583	missense	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1910C>T	1.37:g.205035662C>T	ENSP00000330633:p.Pro637Leu		P78432|Q5T054	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P637L	ENST00000331830.4	37	c.1910	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.577799	0.96565	.	.	ENSG00000184144	ENST00000331830	T	0.60171	0.21	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000061	D	0.85461	0.5702	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89146	0.3520	10	0.87932	D	0	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	637;528	Q02246;Q68DA2	CNTN2_HUMAN;.	L	637	ENSP00000330633:P637L	ENSP00000330633:P637L	P	+	2	0	CNTN2	203302285	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	7.663000	0.83820	2.894000	0.99253	0.591000	0.81541	CCC	CNTN2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000184144		0.617	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	-	0	40	0	C	NM_005076		205035662	1	tier1	-	no_errors	ENST00000331830	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	T	T	205035662	C	T	205035662	3	4	91	1	0	0	0	0	1	0	0	0	3648	623	22	3	1964	3	CNTN2	1	205035662	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2148267	205035662	44214959	41	26114											
SUSD4	55061	genome.wustl.edu	37	chr1	223438154	223438154	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaggctagaggtctcAggcagcctgtggaaggtgaa	12	7	16	6	0	1	4	1	1	1	3	2	5	1	5	1	5	1	2	1	5	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:223438154A>T	ENST00000343846.3	-	4	1175	c.542T>A	c.(541-543)cTg>cAg	p.L181Q	SUSD4_ENST00000494793.2_Missense_Mutation_p.L181Q|SUSD4_ENST00000344029.6_Missense_Mutation_p.L181Q|SUSD4_ENST00000484758.2_Missense_Mutation_p.L110Q|SUSD4_ENST00000366878.4_Missense_Mutation_p.L181Q|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_Missense_Mutation_p.L21Q			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	181	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TAGAGGTCTCAGGCAGCCTGT	0.483																																																	0													49	53	51					1																	223438154		2203	4300	6503	SO:0001583	missense	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.542T>A	1.37:g.223438154A>T	ENSP00000344219:p.Leu181Gln		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L181Q	ENST00000343846.3	37	c.542	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624831	0.28889	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695;ENST00000271787;ENST00000344029	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.37053	N	0.002272	T	0.69984	0.3172	L	0.45422	1.42	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.987;0.996;0.991	T	0.64041	-0.6500	10	0.12430	T	0.62	-17.4256	14.8509	0.70295	1.0:0.0:0.0:0.0	.	110;181;181	B7Z369;Q5VX71-3;Q5VX71	.;.;SUSD4_HUMAN	Q	181;181;110;21;181;181	ENSP00000344219:L181Q;ENSP00000355843:L181Q;ENSP00000399288:L21Q;ENSP00000339926:L181Q	ENSP00000271787:L181Q	L	-	2	0	SUSD4	221504777	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	6.997000	0.76270	2.287000	0.76781	0.482000	0.46254	CTG	SUSD4	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000143502		0.483	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	-	0	26	0	A	NM_017982		223438154	-1	tier1	-	no_errors	ENST00000343846	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	T	T	223438154	A	T	223438154	3	4	91	1	0	0	0	0	1	0	0	0	15457	188	7	5	1103	5	SUSD4	1	223438154	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	18402492	223438154	25812467	42	26115											
NID1	4811	genome.wustl.edu	37	chr1	236195817	236195817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacggtctcgggaatggtgCtgatggctgtgtaggagcgc	7	9	17	8	3	1	1	0	1	1	0	2	3	1	3	0	5	3	3	0	5	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr1:236195817C>A	ENST00000264187.6	-	6	1503	c.1421G>T	c.(1420-1422)aGc>aTc	p.S474I	NID1_ENST00000366595.3_Missense_Mutation_p.S474I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	474	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGGAATGGTGCTGATGGCTGT	0.527																																																	0													108	92	98					1																	236195817		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1421G>T	1.37:g.236195817C>A	ENSP00000264187:p.Ser474Ile		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.S474I	ENST00000264187.6	37	c.1421	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.215414	0.95104	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	T;T	0.28454	1.61;1.61	5.87	5.87	0.94306	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.074859	0.85682	D	0.000000	T	0.65386	0.2686	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70428	-0.4874	10	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	474;474	P14543-2;P14543	.;NID1_HUMAN	I	474	ENSP00000264187:S474I;ENSP00000355554:S474I	ENSP00000264187:S474I	S	-	2	0	NID1	234262440	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.780000	0.95670	0.655000	0.94253	AGC	NID1	-	pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000116962		0.527	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2		0	30	0	C	NM_002508		236195817	-1			no_errors	ENST00000264187	ensembl	human	known	74_37	missense	15.38	11	2	SNP	1.000	A	A	236195817	C	A	236195817	3	1	91	1	0	0	0	0	1	0	0	0	10453	797	28	3	2382	3	NID1	1	236195817	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	12757663	236195817	13054804	43	26116											
TTC15	51112	genome.wustl.edu	37	chr2	3483161	3483161	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggagcatgcagaagaaaCaggccctgctggaggctgtc	11	5	14	11	1	0	2	0	0	0	2	1	4	0	4	1	4	4	4	1	4	2	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:3483161C>T	ENST00000324266.5	+	12	2332	c.2137C>T	c.(2137-2139)Cag>Tag	p.Q713*	TRAPPC12-AS1_ENST00000453806.1_RNA|TRAPPC12_ENST00000382110.2_Nonsense_Mutation_p.Q713*	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	713					vesicle-mediated transport (GO:0016192)												GCAGAAGAAACAGGCCCTGCT	0.602																																																	0													86	87	86					2																	3483161		2203	4300	6503	SO:0001587	stop_gained	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.2137C>T	2.37:g.3483161C>T	ENSP00000324318:p.Gln713*		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Nonsense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q713*	ENST00000324266.5	37	c.2137	CCDS1652.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.680753|8.680753	0.98912|0.98912	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000382110;ENST00000324266;ENST00000415624|ENST00000416918	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	0.051973|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74191	.|0.3684	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72384	.|-0.4310	.|4	0.29301|.	T|.	0.29|.	.|.	18.0312|18.0312	0.89285|0.89285	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	713;713;212|99	.|.	ENSP00000324318:Q713X|.	Q|T	+|+	1|2	0|0	TTC15|TTC15	3462168|3462168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	7.500000|7.500000	0.81588|0.81588	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	CAG|ACA	TRAPPC12	-	NULL	ENSG00000171853		0.602	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	-	0	17	0	C	NM_016030		3483161	1	tier1	-	no_errors	ENST00000324266	ensembl	human	known	74_37	nonsense	33.33	6	3	SNP	1.000	T	T	3483161	C	T	3483161	4	4	91	1	0	0	0	0	0	1	0	0	16731	479	17	3	2179	3	TTC15	2	3483161	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09		3483161	239716212	44	26117											
CMPK2	129607	genome.wustl.edu	37	chr2	7005185	7005185	+	Frame_Shift_Del	DEL	C	C	-																															ggcccgggcggcttcccggtCcgggaagaccacggaactgg																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:7005185delC	ENST00000256722.5	-	1	642	c.643delG	c.(643-645)gacfs	p.D215fs	CMPK2_ENST00000478738.1_Intron|CMPK2_ENST00000458098.1_Frame_Shift_Del_p.D215fs|CMPK2_ENST00000404168.1_Frame_Shift_Del_p.D215fs	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	215					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCTTCCCGGTCCGGGAAGACC	0.677																																																	0													4	5	5					2																	7005185		1739	3870	5609	SO:0001589	frameshift_variant	0				CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"cytidylate kinase 2"	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.643delG	2.37:g.7005185delC	ENSP00000256722:p.Asp215fs		A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,pirsf_UMP-CMP_kinase_mit	p.D215fs	ENST00000256722.5	37	c.643	CCDS42648.1	2																																																																																			CMPK2	-	pirsf_UMP-CMP_kinase_mit	ENSG00000134326		0.677	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CMPK2	HGNC	protein_coding	OTTHUMT00000323339.2		0	26	0	C	NM_207315		7005185	-1	tier1		no_errors	ENST00000458098	ensembl	human	known	74_37	frame_shift_del	20.00	8	2	DEL	0.000	-	-	7005185	C	-	7005185	7	5	91	1	0	1	0	1	0	0	0	0	3588	855	30	0	726	0	CMPK2	2	7005185	Frame_Shift_Del	DEL	C	TCGA-L5-A8NS-01A-12D-A37C-09	3522024	7005185	236194188	45	26118											
SMC6	79677	genome.wustl.edu	37	chr2	17898069	17898069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaactgttcgatctcttGattgactgaattttcttgat	9	18	7	7	1	2	5	0	5	2	0	4	6	2	5	0	0	1	1	0	0	2	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:17898069G>T	ENST00000448223.2	-	14	1554	c.1285C>A	c.(1285-1287)Caa>Aaa	p.Q429K	SMC6_ENST00000351948.4_Missense_Mutation_p.Q429K|SMC6_ENST00000402989.1_Missense_Mutation_p.Q429K|SMC6_ENST00000381272.4_Missense_Mutation_p.Q455K	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	429					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCGATCTCTTGATTGACTGAA	0.333																																																	0													156	146	150					2																	17898069		2202	4299	6501	SO:0001583	missense	0			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"Structural maintenance of chromosomes proteins"	20466	protein-coding gene	gene with protein product		609387	"SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1285C>A	2.37:g.17898069G>T	ENSP00000404092:p.Gln429Lys		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.Q455K	ENST00000448223.2	37	c.1363	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281232	0.80692	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.30981	1.55;1.55;1.55;1.55;1.51	5.79	4.88	0.63580	RecF/RecN/SMC (1);	0.049250	0.85682	D	0.000000	T	0.46425	0.1392	L	0.58101	1.795	0.54753	D	0.999984	D;B;P	0.58970	0.984;0.34;0.793	P;B;P	0.61592	0.891;0.171;0.683	T	0.15122	-1.0448	10	0.13470	T	0.59	.	16.9484	0.86236	0.0:0.1272:0.8728:0.0	.	455;455;429	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	K	429;429;455;429;455	ENSP00000404092:Q429K;ENSP00000323439:Q429K;ENSP00000370672:Q455K;ENSP00000384539:Q429K;ENSP00000408644:Q455K	ENSP00000323439:Q429K	Q	-	1	0	SMC6	17761550	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	7.946000	0.87746	2.740000	0.93945	0.561000	0.74099	CAA	SMC6	-	superfamily_P-loop_NTPase	ENSG00000163029		0.333	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	-	0	94	0	G	NM_024624		17898069	-1	tier1	-	no_errors	ENST00000381272	ensembl	human	known	74_37	missense	8.89	40	4	SNP	1.000	T	T	17898069	G	T	17898069	3	4	91	1	0	0	0	0	1	0	0	0	14832	1299	45	3	2050	3	SMC6	2	17898069	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	10892884	17898069	225301304	46	26119											
MAPRE3	22924	genome.wustl.edu	37	chr2	27246243	27246243	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgctcttccccggctgTgtgcacttgaggaaagtgaa	9	10	12	10	1	1	2	0	2	1	0	2	4	2	3	2	2	2	3	2	2	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:27246243T>G	ENST00000233121.2	+	3	363	c.165T>G	c.(163-165)tgT>tgG	p.C55W	MAPRE3_ENST00000405074.3_Missense_Mutation_p.C55W|MAPRE3_ENST00000402218.1_Missense_Mutation_p.C55W			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	55	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCCGGCTGTGTGCACTTGA	0.537																																																	0													122	104	110					2																	27246243		2203	4300	6503	SO:0001583	missense	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.165T>G	2.37:g.27246243T>G	ENSP00000233121:p.Cys55Trp		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Missense_Mutation	SNP	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain	p.C55W	ENST00000233121.2	37	c.165	CCDS1731.1	2	.	.	.	.	.	.	.	.	.	.	T	11.82	1.753967	0.31046	.	.	ENSG00000084764	ENST00000233121;ENST00000405074;ENST00000458529;ENST00000402218	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.95	-6.74	0.01743	Calponin homology domain (4);	0.047836	0.85682	D	0.000000	T	0.62196	0.2408	M	0.88640	2.97	0.45883	D	0.99873	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.989;0.992;0.995	T	0.72054	-0.4406	10	0.87932	D	0	-7.7162	13.8339	0.63398	0.1017:0.6467:0.0:0.2517	.	55;55;55	B7Z867;Q9UPY8-2;Q9UPY8	.;.;MARE3_HUMAN	W	55	ENSP00000233121:C55W;ENSP00000383915:C55W;ENSP00000391705:C55W;ENSP00000385715:C55W	ENSP00000233121:C55W	C	+	3	2	MAPRE3	27099747	0.002000	0.14202	0.009000	0.14445	0.006000	0.05464	-1.297000	0.02759	-1.475000	0.01876	-0.904000	0.02843	TGT	MAPRE3	-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	ENSG00000084764		0.537	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1		0	28	0	T	NM_012326		27246243	1			no_errors	ENST00000233121	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.189	G	G	27246243	T	G	27246243	3	3	91	1	0	0	0	0	1	0	0	0	9334	1702	59	4	171	4	MAPRE3	2	27246243	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	9348174	27246243	215953130	47	26120											
SPDYA	245711	genome.wustl.edu	37	chr2	29045256	29045256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actataagtgagcataccagGataaatttctttattgctct	13	15	6	7	0	2	1	0	1	2	0	2	2	2	2	1	1	3	2	1	1	6	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:29045256G>T	ENST00000334056.5	+	5	549	c.360G>T	c.(358-360)agG>agT	p.R120S	SPDYA_ENST00000379579.4_Missense_Mutation_p.R120S|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGCATACCAGGATAAATTTCT	0.259																																																	0													48	49	49					2																	29045256		2177	4245	6422	SO:0001583	missense	0			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.360G>T	2.37:g.29045256G>T	ENSP00000335628:p.Arg120Ser			Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.R120S	ENST00000334056.5	37	c.360	CCDS1767.2	2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785672	0.49997	.	.	ENSG00000163806	ENST00000379579;ENST00000334056;ENST00000449210	.	.	.	5.32	4.43	0.53597	.	0.119778	0.51477	U	0.000088	T	0.65048	0.2654	M	0.80183	2.485	0.52501	D	0.999955	B;B	0.33528	0.416;0.363	B;B	0.35859	0.212;0.135	T	0.70992	-0.4721	9	0.72032	D	0.01	-41.923	12.5624	0.56288	0.1294:0.0:0.8706:0.0	.	120;120	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	S	120	.	ENSP00000335628:R120S	R	+	3	2	SPDYA	28898760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.031000	0.41117	2.642000	0.89623	0.585000	0.79938	AGG	SPDYA	-	pfam_Cell_cycle_regulatory_Spy1	ENSG00000163806		0.259	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYA	HGNC	protein_coding	OTTHUMT00000157171.1	-	0	94	0	G	NM_182756		29045256	1	tier1	-	no_errors	ENST00000334056	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	29045256	G	T	29045256	3	4	91	1	0	0	0	0	1	0	0	0	15074	1165	41	3	370	3	SPDYA	2	29045256	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1799013	29045256	214154117	48	26121											
NLRC4	58484	genome.wustl.edu	37	chr2	32477679	32477679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatacaaataggtcatctGtgatttgctttataacagtc	12	15	6	8	0	2	1	1	1	1	0	4	1	3	1	1	1	3	1	1	1	5	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:32477679G>T	ENST00000404025.2	-	4	559	c.71C>A	c.(70-72)aCa>aAa	p.T24K	NLRC4_ENST00000342905.6_Missense_Mutation_p.T24K|NLRC4_ENST00000402280.1_Missense_Mutation_p.T24K|NLRC4_ENST00000360906.5_Missense_Mutation_p.T24K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	24	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGGTCATCTGTGATTTGCTT	0.398																																																	0													126	116	119					2																	32477679		2203	4300	6503	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.71C>A	2.37:g.32477679G>T	ENSP00000385090:p.Thr24Lys		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD	p.T24K	ENST00000404025.2	37	c.71	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	5.097	0.203619	0.09704	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	4.16	-4.65	0.03339	DEATH-like (2);Caspase Recruitment (2);	3.088290	0.01633	N	0.023644	T	0.14184	0.0343	N	0.19112	0.55	0.25465	N	0.987882	B;B	0.23128	0.065;0.08	B;B	0.22601	0.024;0.04	T	0.13388	-1.0511	9	0.27082	T	0.32	2.7074	3.8149	0.08811	0.2118:0.1511:0.4978:0.1393	.	24;24	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	K	24	ENSP00000354159:T24K;ENSP00000385428:T24K;ENSP00000339666:T24K;ENSP00000385090:T24K	ENSP00000339666:T24K	T	-	2	0	NLRC4	32331183	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.242000	0.08928	-0.572000	0.06006	-0.474000	0.04947	ACA	NLRC4	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000091106		0.398	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	-	0	56	0	G	NM_021209		32477679	-1	tier1	-	no_errors	ENST00000360906	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.001	T	T	32477679	G	T	32477679	3	4	91	1	0	0	0	0	1	0	0	0	10508	1377	48	3	3031	3	NLRC4	2	32477679	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3432423	32477679	210721694	49	26122											
HEATR5B	54497	genome.wustl.edu	37	chr2	37306470	37306470	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgtttttcctttacaTcggtctgttacaaaaaaaat	11	19	4	7	1	2	0	0	0	2	0	4	0	3	0	1	1	2	2	1	1	6	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:37306470T>G	ENST00000233099.5	-	3	226	c.131A>C	c.(130-132)gAt>gCt	p.D44A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D44A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	44						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTCCTTTACATCGGTCTGTTA	0.269																																																	0													73	70	71					2																	37306470		2201	4297	6498	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.131A>C	2.37:g.37306470T>G	ENSP00000233099:p.Asp44Ala		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D44A	ENST00000233099.5	37	c.131	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237885	0.79800	.	.	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	T;T	0.08102	3.13;3.13	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	M	0.67397	2.05	0.80722	D	1	D	0.63046	0.992	D	0.65987	0.94	T	0.00373	-1.1781	10	0.51188	T	0.08	-25.2482	16.0542	0.80782	0.0:0.0:0.0:1.0	.	44	Q9P2D3	HTR5B_HUMAN	A	44	ENSP00000233099:D44A;ENSP00000346531:D44A	ENSP00000233099:D44A	D	-	2	0	HEATR5B	37159974	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.892000	0.87324	2.188000	0.69820	0.460000	0.39030	GAT	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.269	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0	43	0	T	NM_019024		37306470	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	G	G	37306470	T	G	37306470	3	3	91	1	0	0	0	0	1	0	0	0	7059	1435	50	4	6220	4	HEATR5B	2	37306470	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	4828791	37306470	205892903	50	26123											
CCDC88A	55704	genome.wustl.edu	37	chr2	55616015	55616015	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactctctgactctccaattTaggattactgtaagaaatac	13	14	5	9	0	2	2	0	1	2	1	4	3	2	3	1	1	3	1	1	1	7	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:55616015T>G	ENST00000436346.1	-	3	1013	c.172A>C	c.(172-174)Aaa>Caa	p.K58Q	CCDC88A_ENST00000263630.8_Missense_Mutation_p.K58Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K58Q|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K58Q	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	58					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CTCTCCAATTTAGGATTACTG	0.224																																																	0													59	63	62					2																	55616015		2202	4280	6482	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.172A>C	2.37:g.55616015T>G	ENSP00000410608:p.Lys58Gln		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.K58Q	ENST00000436346.1	37	c.172		2	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620066	0.87460	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.97	5.97	0.96955	.	0.000000	0.50627	U	0.000111	T	0.59542	0.2201	L	0.54323	1.7	0.80722	D	1	D;D;D	0.63880	0.971;0.993;0.993	P;P;D	0.66602	0.811;0.886;0.945	T	0.60697	-0.7212	10	0.62326	D	0.03	-28.1862	16.1075	0.81236	0.0:0.0:0.0:1.0	.	58;58;58	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Q	58	ENSP00000338728:K58Q;ENSP00000263630:K58Q;ENSP00000410608:K58Q;ENSP00000404431:K58Q	ENSP00000263630:K58Q	K	-	1	0	CCDC88A	55469519	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.867000	0.69597	2.285000	0.76669	0.528000	0.53228	AAA	CCDC88A	-	pfam_Hook-related_fam	ENSG00000115355		0.224	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding			0	68	0	T	NM_017571		55616015	-1			no_errors	ENST00000436346	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	G	G	55616015	T	G	55616015	3	3	91	1	0	0	0	0	1	0	0	0	2870	1763	61	4	5563	4	CCDC88A	2	55616015	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	18309545	55616015	187583358	51	26124											
MDH1	4190	genome.wustl.edu	37	chr2	63832427	63832427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagactgtgcagcagcGtggcgctgctgtcatcaagg	7	9	13	12	2	2	1	2	0	0	1	3	1	3	1	1	2	4	4	1	2	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:63832427G>A	ENST00000233114.8	+	7	1124	c.689G>A	c.(688-690)cGt>cAt	p.R230H	MDH1_ENST00000394423.1_Missense_Mutation_p.R230H|MDH1_ENST00000544381.1_Missense_Mutation_p.R141H|MDH1_ENST00000409908.1_Missense_Mutation_p.R65H|MDH1_ENST00000409476.1_Missense_Mutation_p.R106H|MDH1_ENST00000539945.1_Missense_Mutation_p.R248H	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	230					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						GTGCAGCAGCGTGGCGCTGCT	0.512																																																	0													48	45	46					2																	63832427		2203	4300	6503	SO:0001583	missense	0				CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.689G>A	2.37:g.63832427G>A	ENSP00000233114:p.Arg230His		B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	p.R248H	ENST00000233114.8	37	c.743	CCDS1874.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.177844	0.94846	.	.	ENSG00000014641	ENST00000233114;ENST00000409908;ENST00000409476;ENST00000539945;ENST00000544381;ENST00000394423	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	5.47	5.47	0.80525	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.41465	0.1160	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52533	-0.8563	10	0.87932	D	0	-40.8532	19.6948	0.96021	0.0:0.0:1.0:0.0	.	248;230	F5H098;P40925	.;MDHC_HUMAN	H	230;65;106;248;141;230	ENSP00000233114:R230H;ENSP00000386743:R65H;ENSP00000386719:R106H;ENSP00000438144:R248H;ENSP00000446395:R141H;ENSP00000377945:R230H	ENSP00000233114:R230H	R	+	2	0	MDH1	63685931	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	9.420000	0.97426	2.723000	0.93209	0.655000	0.94253	CGT	MDH1	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2	ENSG00000014641		0.512	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH1	HGNC	protein_coding	OTTHUMT00000251687.1		0	12	0	G			63832427	1			no_errors	ENST00000539945	ensembl	human	known	74_37	missense	28.57	5	2	SNP	1.000	A	A	63832427	G	A	63832427	3	1	91	1	0	0	0	0	1	0	0	0	9446	1145	40	1	715	1	MDH1	2	63832427	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8216412	63832427	179366946	52	26125											
GFPT1	2673	genome.wustl.edu	37	chr2	69565629	69565629	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaagactggtgtgtttctGtccaggaagtcacttgctag	9	12	12	8	1	2	1	1	0	1	1	3	3	3	2	1	2	1	2	1	2	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:69565629G>C	ENST00000357308.4	-	14	1450	c.1272C>G	c.(1270-1272)gaC>gaG	p.D424E	GFPT1_ENST00000361060.5_Missense_Mutation_p.D406E	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	424	Isomerase.|SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGTGTTTCTGTCCAGGAAGT	0.398																																																	0													118	110	113					2																	69565629		2203	4300	6503	SO:0001583	missense	0				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"glutamine-fructose-6-phosphate transaminase 1"	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1272C>G	2.37:g.69565629G>C	ENSP00000349860:p.Asp424Glu		Q53QE6|Q9BXF8	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.D424E	ENST00000357308.4	37	c.1272	CCDS58713.1	2	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828830	0.71258	.	.	ENSG00000198380	ENST00000357308;ENST00000361060	T;T	0.63580	-0.05;-0.05	5.05	0.123	0.14709	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	L	0.53729	1.69	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.68104	-0.5497	10	0.72032	D	0.01	-19.3885	9.9211	0.41464	0.4404:0.0:0.5596:0.0	.	406	Q06210-2	.	E	424;406	ENSP00000349860:D424E;ENSP00000354347:D406E	ENSP00000349860:D424E	D	-	3	2	GFPT1	69419133	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	1.331000	0.33793	-0.114000	0.11936	-0.312000	0.09012	GAC	GFPT1	-	pfam_SIS,tigrfam_GlmS_trans	ENSG00000198380		0.398	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		-	0	51	0	G			69565629	-1	tier1	-	no_errors	ENST00000357308	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	C	C	69565629	G	C	69565629	3	2	91	1	0	0	0	0	1	0	0	0	6371	1368	48	5	855	5	GFPT1	2	69565629	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5733202	69565629	173633744	53	26126											
SMYD5	10322	genome.wustl.edu	37	chr2	73448309	73448309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggagtattcactacccaCctgagactgcaagcatcatg	12	8	8	13	0	2	1	2	1	0	1	2	3	2	2	3	1	3	3	3	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:73448309C>T	ENST00000389501.4	+	5	529	c.484C>T	c.(484-486)Cct>Tct	p.P162S	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	162	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCACTACCCACCTGAGACTGC	0.527																																																	0													105	96	99					2																	73448309		2203	4300	6503	SO:0001583	missense	0			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"Zinc fingers, MYND-type"	16258	protein-coding gene	gene with protein product			"retinoic acid induced 15"	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.484C>T	2.37:g.73448309C>T	ENSP00000374152:p.Pro162Ser		D6W5H3|Q13558	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.P162S	ENST00000389501.4	37	c.484	CCDS33221.2	2	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494167	0.85069	.	.	ENSG00000135632	ENST00000389501;ENST00000443900	T	0.52057	0.68	5.46	5.46	0.80206	SET domain (2);	0.050959	0.85682	D	0.000000	T	0.67924	0.2945	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61802	-0.6988	10	0.18710	T	0.47	-4.9596	18.2596	0.90030	0.0:1.0:0.0:0.0	.	162	Q6GMV2	SMYD5_HUMAN	S	162;135	ENSP00000374152:P162S	ENSP00000374152:P162S	P	+	1	0	SMYD5	73301817	1.000000	0.71417	0.998000	0.56505	0.707000	0.40811	7.022000	0.76431	2.743000	0.94032	0.609000	0.83330	CCT	SMYD5	-	pfam_SET_dom,smart_SET_dom	ENSG00000135632		0.527	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	-	0	29	0	C	NM_006062		73448309	1	tier1	-	no_errors	ENST00000389501	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	73448309	C	T	73448309	3	4	91	1	0	0	0	0	1	0	0	0	14870	507	18	3	502	3	SMYD5	2	73448309	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3882680	73448309	169751064	54	26127											
MAT2A	4144	genome.wustl.edu	37	chr2	85770071	85770071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccattatctatctccattttCcattatggtacctctcagaa	10	16	3	12	0	3	1	1	0	3	1	6	1	4	1	4	1	1	1	4	1	5	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:85770071C>T	ENST00000306434.3	+	8	1122	c.999C>T	c.(997-999)ttC>ttT	p.F333F	MAT2A_ENST00000409017.1_Silent_p.F270F	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	333					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTCCATTTTCCATTATGGTA	0.388																																																	0													177	181	179					2																	85770071		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.999C>T	2.37:g.85770071C>T			A8K511|B4DN45|D6W5L1|Q53SP5	Silent	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.F333	ENST00000306434.3	37	c.999	CCDS1977.1	2																																																																																			MAT2A	-	pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	ENSG00000168906		0.388	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	-	0	33	0	C	NM_005911		85770071	1	tier1	-	no_errors	ENST00000306434	ensembl	human	known	74_37	silent	31.58	13	6	SNP	1.000	T	T	85770071	C	T	85770071	2	4	91	1	0	0	0	0	0	0	0	1	9368	854	30	3		3	MAT2A	2	85770071	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	12321762	85770071	157429302	55	26128											
C2orf55	343990	genome.wustl.edu	37	chr2	99454593	99454593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttactccagctcatcCtcggagtcgtagcccactgg	8	9	9	15	2	1	0	1	0	0	0	5	1	3	1	3	2	4	3	3	2	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:99454593C>T	ENST00000397899.2	-	3	559	c.228G>A	c.(226-228)gaG>gaA	p.E76E	RNU7-46P_ENST00000459066.1_RNA|KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	76																	CCAGCTCATCCTCGGAGTCGT	0.507																																																	0													97	93	94					2																	99454593		2021	4180	6201	SO:0001819	synonymous_variant	0			BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 55"	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.228G>A	2.37:g.99454593C>T				Silent	SNP	NULL	p.E76	ENST00000397899.2	37	c.228	CCDS42720.1	2																																																																																			KIAA1211L	-	NULL	ENSG00000196872		0.507	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211L	HGNC	protein_coding	OTTHUMT00000329933.1	-	0	38	0	C	NM_207362		99454593	-1	tier1	-	no_errors	ENST00000397899	ensembl	human	known	74_37	silent	13.89	31	5	SNP	1.000	T	T	99454593	C	T	99454593	2	4	91	1	0	0	0	0	0	0	0	1	2183	680	24	3		3	C2orf55	2	99454593	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	13684522	99454593	143744780	56	26129											
EIF5B	9669	genome.wustl.edu	37	chr2	99984963	99984963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttatccctcaggtgttgaAgtgccatcaaaagactcttt	10	15	7	9	0	3	2	2	1	1	1	4	2	4	2	2	1	1	1	2	1	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:99984963A>T	ENST00000289371.6	+	7	1498	c.1296A>T	c.(1294-1296)gaA>gaT	p.E432D		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	432					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGGTGTTGAAGTGCCATCAA	0.358																																					Colon(162;2388 2567 2705 3444)												0													88	79	82					2																	99984963		1826	4086	5912	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1296A>T	2.37:g.99984963A>T	ENSP00000289371:p.Glu432Asp		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.E432D	ENST00000289371.6	37	c.1296	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	A	13.05	2.122493	0.37436	.	.	ENSG00000158417	ENST00000289371	T	0.46063	0.88	5.41	5.41	0.78517	.	.	.	.	.	T	0.57740	0.2074	M	0.69185	2.1	0.58432	D	0.999998	D	0.64830	0.994	D	0.70716	0.97	T	0.59380	-0.7465	8	.	.	.	-32.6439	8.2645	0.31806	0.8507:0.0:0.1493:0.0	.	432	O60841	IF2P_HUMAN	D	432	ENSP00000289371:E432D	.	E	+	3	2	EIF5B	99351395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.083000	0.50136	2.171000	0.68590	0.533000	0.62120	GAA	EIF5B	-	NULL	ENSG00000158417		0.358	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2		0	32	0	A	NM_015904		99984963	1			no_errors	ENST00000289371	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	99984963	A	T	99984963	3	4	91	1	0	0	0	0	1	0	0	0	5060	69	3	5	1322	5	EIF5B	2	99984963	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	530370	99984963	143214410	57	26130											
POLR1B	84172	genome.wustl.edu	37	chr2	113332935	113332935	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcagacaaatttcaagtaAggacaactggagcccgagac	15	7	9	10	1	2	2	2	0	1	2	3	5	2	4	1	2	2	1	1	2	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:113332935A>C	ENST00000263331.5	+	15	3617	c.3037A>C	c.(3037-3039)Agg>Cgg	p.R1013R	POLR1B_ENST00000409894.3_Silent_p.R830R|POLR1B_ENST00000417433.2_Silent_p.R957R|POLR1B_ENST00000537335.1_Silent_p.R802R|POLR1B_ENST00000541869.1_Silent_p.R1051R	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1013					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						ATTTCAAGTAAGGACAACTGG	0.483																																					Ovarian(16;256 576 9537 23969 41147)												0													81	87	85					2																	113332935		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.3037A>C	2.37:g.113332935A>C			B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.R1051	ENST00000263331.5	37	c.3151	CCDS2097.1	2																																																																																			POLR1B	-	pfam_DNA-dir_RNA_pol_su2_6	ENSG00000125630		0.483	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	-	0	40	0	A	NM_019014		113332935	1	tier1	-	no_errors	ENST00000541869	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.962	C	C	113332935	A	C	113332935	2	2	91	1	0	0	0	0	0	0	0	1	12249	63	3	4		4	POLR1B	2	113332935	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	13347972	113332935	129866438	58	26131											
DPP4	1803	genome.wustl.edu	37	chr2	162868348	162868348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcaaatgttcccagtcttCtgttgattgcatgcatgatc	8	16	7	10	0	3	2	1	2	2	0	5	2	4	2	1	0	2	4	1	0	1	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:162868348C>G	ENST00000360534.3	-	20	2347	c.1787G>C	c.(1786-1788)aGa>aCa	p.R596T	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	596					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TCCCAGTCTTCTGTTGATTGC	0.408																																																	0													158	140	146					2																	162868348		2203	4300	6503	SO:0001583	missense	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1787G>C	2.37:g.162868348C>G	ENSP00000353731:p.Arg596Thr		Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.R596T	ENST00000360534.3	37	c.1787	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006130	0.74932	.	.	ENSG00000197635	ENST00000360534	T	0.32023	1.47	5.94	3.15	0.36227	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.380488	0.31542	N	0.007469	T	0.56717	0.2004	M	0.92412	3.305	0.42822	D	0.993996	D	0.56287	0.975	P	0.58970	0.849	T	0.62393	-0.6864	10	0.87932	D	0	-9.0464	9.4876	0.38940	0.0:0.7284:0.0:0.2716	.	596	P27487	DPP4_HUMAN	T	596	ENSP00000353731:R596T	ENSP00000353731:R596T	R	-	2	0	DPP4	162576594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.907000	0.28531	0.386000	0.24997	0.591000	0.81541	AGA	DPP4	-	pfam_Peptidase_S9	ENSG00000197635		0.408	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2		0	98	0	C			162868348	-1			no_errors	ENST00000360534	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G	G	162868348	C	G	162868348	3	3	91	1	0	0	0	0	1	0	0	0	4743	913	32	5	541	5	DPP4	2	162868348	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	49535413	162868348	80331025	59	26132											
DPP4	1803	genome.wustl.edu	37	chr2	162873287	162873287	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaacttacttgtttcatTcaaaataatgaagtccagtt	14	17	4	6	0	2	1	2	1	0	0	3	1	3	1	1	0	2	2	1	0	6	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:162873287T>A	ENST00000360534.3	-	18	2118	c.1558A>T	c.(1558-1560)Aat>Tat	p.N520Y	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	520					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CTTGTTTCATTCAAAATAATG	0.338																																																	0													76	80	78					2																	162873287		2203	4300	6503	SO:0001583	missense	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1558A>T	2.37:g.162873287T>A	ENSP00000353731:p.Asn520Tyr		Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.N520Y	ENST00000360534.3	37	c.1558	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	T	11.56	1.675166	0.29783	.	.	ENSG00000197635	ENST00000360534	T	0.24723	1.84	5.71	3.34	0.38264	.	0.479626	0.24024	N	0.042248	T	0.21590	0.0520	L	0.52573	1.65	0.29688	N	0.841163	B	0.06786	0.001	B	0.04013	0.001	T	0.14337	-1.0476	10	0.56958	D	0.05	-10.5017	6.5492	0.22423	0.0:0.1275:0.4683:0.4042	.	520	P27487	DPP4_HUMAN	Y	520	ENSP00000353731:N520Y	ENSP00000353731:N520Y	N	-	1	0	DPP4	162581533	0.152000	0.22762	0.554000	0.28268	0.972000	0.66771	-0.025000	0.12413	0.525000	0.28522	0.528000	0.53228	AAT	DPP4	-	NULL	ENSG00000197635		0.338	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2		0	60	0	T			162873287	-1			no_errors	ENST00000360534	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.728	A	A	162873287	T	A	162873287	3	1	91	1	0	0	0	0	1	0	0	0	4743	1783	62	5	778	5	DPP4	2	162873287	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	4939	162873287	80326086	60	26133											
MYO3B	140469	genome.wustl.edu	37	chr2	171262126	171262126	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaactgtgctttggcattCagcattatgctggaaaggtg	9	13	13	6	0	1	0	1	0	0	0	1	2	1	2	0	4	4	4	0	4	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:171262126C>T	ENST00000408978.4	+	21	2646	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*	MYO3B_ENST00000334231.6_Nonsense_Mutation_p.Q844*|MYO3B_ENST00000409044.3_Nonsense_Mutation_p.Q835*|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	835	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTTGGCATTCAGCATTATGC	0.418																																																	0													107	102	104					2																	171262126		1916	4137	6053	SO:0001587	stop_gained	0				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"Myosins / Myosin superfamily : Class III"	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2503C>T	2.37:g.171262126C>T	ENSP00000386213:p.Gln835*		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.Q844*	ENST00000408978.4	37	c.2530	CCDS42773.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.264704	0.98732	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	.	.	.	5.5	4.63	0.57726	.	0.206543	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	14.5763	0.68249	0.0:0.9297:0.0:0.0703	.	.	.	.	X	835;835;834;844;844	.	ENSP00000314213:Q834X	Q	+	1	0	MYO3B	170970372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.942000	0.56614	1.469000	0.48083	0.655000	0.94253	CAG	MYO3B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000071909		0.418	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MYO3B	HGNC	protein_coding	OTTHUMT00000333410.1	-	0	60	0	C			171262126	1	tier1	-	no_errors	ENST00000334231	ensembl	human	known	74_37	nonsense	9.09	30	3	SNP	1.000	T	T	171262126	C	T	171262126	4	4	91	1	0	0	0	0	0	1	0	0	10115	827	29	3	2585	3	MYO3B	2	171262126	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	8388839	171262126	71937247	61	26134											
GAD1	2571	genome.wustl.edu	37	chr2	171705836	171705836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgtccaggaagcaccGccataaactcaacggcatag	13	6	9	13	2	2	0	2	0	0	0	3	1	3	1	3	2	3	3	3	2	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:171705836G>A	ENST00000358196.3	+	12	1710	c.1160G>A	c.(1159-1161)cGc>cAc	p.R387H		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	387					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.R387H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						AGGAAGCACCGCCATAAACTC	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)											80	70	73					2																	171705836		2203	4300	6503	SO:0001583	missense	0				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"glutamate decarboxylase 1 (brain, 67kD)"	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1160G>A	2.37:g.171705836G>A	ENSP00000350928:p.Arg387His		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.R387H	ENST00000358196.3	37	c.1160	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917002	0.92249	.	.	ENSG00000128683	ENST00000358196	T	0.49720	0.77	5.76	5.76	0.90799	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.049890	0.85682	D	0.000000	T	0.69061	0.3069	M	0.88775	2.98	0.80722	D	1	D	0.56035	0.974	P	0.52598	0.703	T	0.75739	-0.3212	10	0.87932	D	0	-12.8832	19.9857	0.97347	0.0:0.0:1.0:0.0	.	387	Q99259	DCE1_HUMAN	H	387	ENSP00000350928:R387H	ENSP00000350928:R387H	R	+	2	0	GAD1	171414082	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.074000	0.64401	2.706000	0.92434	0.655000	0.94253	CGC	GAD1	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	ENSG00000128683		0.542	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	-	0	40	0	G			171705836	1	tier1	-	no_errors	ENST00000358196	ensembl	human	known	74_37	missense	22.22	20	6	SNP	1.000	A	A	171705836	G	A	171705836	3	1	91	1	0	0	0	0	1	0	0	0	6203	1087	38	1	1243	1	GAD1	2	171705836	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	443710	171705836	71493537	62	26135											
TTN	7273	genome.wustl.edu	37	chr2	179443557	179443557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgtctcgcaacaattgGctccgatttcaggccttccc	7	12	9	13	2	2	0	1	0	1	0	5	2	4	1	3	3	1	2	3	3	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:179443557G>T	ENST00000591111.1	-	270	63501	c.63277C>A	c.(63277-63279)Cca>Aca	p.P21093T	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13861T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P22734T|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P13669T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13794T|TTN-AS1_ENST00000590932.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P20166T|TTN-AS1_ENST00000592689.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21093	Fibronectin type-III 52. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAACAATTGGCTCCGATTTC	0.408																																																	0													91	88	89					2																	179443557		1899	4113	6012	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63277C>A	2.37:g.179443557G>T	ENSP00000465570:p.Pro21093Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P20166T	ENST00000591111.1	37	c.60496		2	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057143	0.36277	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.87	5.87	0.94306	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.57710	0.2072	M	0.63169	1.94	0.58432	D	0.999999	D;D;D;D	0.55605	0.972;0.972;0.972;0.972	P;P;P;P	0.48304	0.573;0.573;0.573;0.573	T	0.62407	-0.6861	9	0.87932	D	0	.	13.4213	0.60998	0.0713:0.0:0.9287:0.0	.	13669;13794;13861;21093	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	20166;13669;13861;13794;13667	ENSP00000343764:P20166T;ENSP00000434586:P13669T;ENSP00000340554:P13861T;ENSP00000352154:P13794T	ENSP00000340554:P13861T	P	-	1	0	TTN	179151803	1.000000	0.71417	0.929000	0.37066	0.903000	0.53119	6.778000	0.75043	2.778000	0.95560	0.650000	0.86243	CCA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	50	0	G	NM_133378		179443557	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	T	T	179443557	G	T	179443557	3	4	91	1	0	0	0	0	1	0	0	0	16784	1203	42	3	39951	3	TTN	2	179443557	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7737721	179443557	63755816	63	26136											
TTN	7273	genome.wustl.edu	37	chr2	179631200	179631200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtctcagagataaacattCggtggattcttctttccact	9	15	8	9	1	3	1	1	0	3	1	6	3	4	2	1	3	1	0	1	3	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:179631200C>T	ENST00000591111.1	-	41	9835	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN_ENST00000342175.6_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R3204Q|TTN_ENST00000460472.2_Missense_Mutation_p.R3158Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3158Q|TTN_ENST00000342992.6_Missense_Mutation_p.R3204Q|TTN_ENST00000360870.5_Missense_Mutation_p.R3204Q|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13534					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATAAACATTCGGTGGATTCT	0.418																																																	0													175	162	166					2																	179631200		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9611G>A	2.37:g.179631200C>T	ENSP00000465570:p.Arg3204Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R3204Q	ENST00000591111.1	37	c.9611		2	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419283	0.62622	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77512	0.4141	L	0.58810	1.83	0.26641	N	0.972283	D;D;D;D;D	0.76494	0.997;0.997;0.997;0.997;0.999	P;P;P;P;D	0.63793	0.778;0.778;0.778;0.778;0.918	T	0.70799	-0.4774	9	0.87932	D	0	.	13.7635	0.62981	0.0:0.9263:0.0:0.0737	.	3158;3158;3158;3204;3204	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	3204;3158;3158;3158;3158;3204	ENSP00000343764:R3204Q;ENSP00000434586:R3158Q;ENSP00000340554:R3158Q;ENSP00000352154:R3158Q;ENSP00000354117:R3204Q	ENSP00000340554:R3158Q	R	-	2	0	TTN	179339445	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.659000	0.61504	2.625000	0.88918	0.591000	0.81541	CGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	58	0	C	NM_133378		179631200	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	30.77	18	8	SNP	1.000	T	T	179631200	C	T	179631200	3	4	91	1	0	0	0	0	1	0	0	0	16784	884	31	1	101665	1	TTN	2	179631200	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	187643	179631200	63568173	64	26137											
FRZB	2487	genome.wustl.edu	37	chr2	183699658	183699658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgctagaatcacttttaCtgagtccaagatgacgaagc	13	12	8	8	1	1	4	1	2	0	2	2	5	2	4	1	0	3	1	1	0	6	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:183699658C>T	ENST00000295113.4	-	6	1505	c.896G>A	c.(895-897)aGt>aAt	p.S299N		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	299					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			ATCACTTTTACTGAGTCCAAG	0.418																																																	0													106	100	102					2																	183699658		2203	4300	6503	SO:0001583	missense	0			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.896G>A	2.37:g.183699658C>T	ENSP00000295113:p.Ser299Asn		O00181|Q99686	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.S299N	ENST00000295113.4	37	c.896	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	C	8.044	0.764490	0.15914	.	.	ENSG00000162998	ENST00000295113	T	0.73047	-0.71	5.7	3.74	0.42951	.	0.420987	0.27787	N	0.017851	T	0.49047	0.1534	N	0.14661	0.345	0.28671	N	0.90563	B	0.02656	0.0	B	0.01281	0.0	T	0.35943	-0.9768	10	0.31617	T	0.26	.	6.9101	0.24331	0.0:0.6791:0.1455:0.1753	.	299	Q92765	SFRP3_HUMAN	N	299	ENSP00000295113:S299N	ENSP00000295113:S299N	S	-	2	0	FRZB	183407903	0.993000	0.37304	1.000000	0.80357	0.963000	0.63663	0.759000	0.26461	0.602000	0.29896	0.650000	0.86243	AGT	FRZB	-	NULL	ENSG00000162998		0.418	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	-	0	35	0	C	NM_001463		183699658	-1	tier1	-	no_errors	ENST00000295113	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	183699658	C	T	183699658	3	4	91	1	0	0	0	0	1	0	0	0	6089	565	20	3	85	3	FRZB	2	183699658	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4068458	183699658	59499715	65	26138											
SATB2	23314	genome.wustl.edu	37	chr2	200136975	200136975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgctgccttgcttttgtCagcattttcctcctcagcct	4	16	8	13	0	2	0	2	0	0	0	4	0	4	0	4	1	5	3	4	1	0	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:200136975C>G	ENST00000417098.1	-	11	2977	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	SATB2_ENST00000443023.1_Missense_Mutation_p.D662H|SATB2_ENST00000457245.1_Missense_Mutation_p.D721H|SATB2_ENST00000428695.1_Missense_Mutation_p.D603H|SATB2_ENST00000260926.5_Missense_Mutation_p.D721H	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	721					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTGCTTTTGTCAGCATTTTCC	0.478																																					Colon(30;262 767 11040 24421 36230)												0													122	119	120					2																	200136975		2203	4300	6503	SO:0001583	missense	0			AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"Homeoboxes / CUT class"	21637	protein-coding gene	gene with protein product		608148	"SATB family member 2"				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2161G>C	2.37:g.200136975C>G	ENSP00000401112:p.Asp721His		A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.D721H	ENST00000417098.1	37	c.2161	CCDS2327.1	2	.	.	.	.	.	.	.	.	.	.	C	10.34	1.324269	0.24080	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T;T	0.47177	0.86;0.85;0.86;0.85;0.86	5.63	5.63	0.86233	.	0.544085	0.19246	N	0.119045	T	0.31702	0.0805	N	0.08118	0	0.38863	D	0.956531	P;B	0.41041	0.736;0.07	B;B	0.35550	0.205;0.043	T	0.40478	-0.9561	10	0.56958	D	0.05	-6.4245	20.0401	0.97581	0.0:1.0:0.0:0.0	.	603;721	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	H	721;662;721;603;721	ENSP00000401112:D721H;ENSP00000388764:D662H;ENSP00000260926:D721H;ENSP00000388581:D603H;ENSP00000405420:D721H	ENSP00000260926:D721H	D	-	1	0	SATB2	199845220	0.972000	0.33761	0.122000	0.21767	0.081000	0.17604	3.512000	0.53407	2.805000	0.96524	0.655000	0.94253	GAC	SATB2	-	NULL	ENSG00000119042		0.478	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB2	HGNC	protein_coding	OTTHUMT00000256140.1		0	46	0	C	NM_015265		200136975	-1			no_errors	ENST00000260926	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.778	G	G	200136975	C	G	200136975	3	3	91	1	0	0	0	0	1	0	0	0	13899	826	29	5	44	5	SATB2	2	200136975	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	16437317	200136975	43062398	66	26139											
SPATS2L	26010	genome.wustl.edu	37	chr2	201342432	201342432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctaaatgggcctgccaagtCgcagggcagtgggaatgaag	11	6	16	8	1	0	1	0	1	0	0	1	2	0	2	2	3	1	3	2	3	5	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:201342432C>T	ENST00000358677.5	+	13	1602	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000360760.5_Missense_Mutation_p.S383L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.S392L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.S452L|SPATS2L_ENST00000409755.3_Missense_Mutation_p.S482L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.S460L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.S452L|SPATS2L_ENST00000451764.2_Missense_Mutation_p.S452L|SPATS2L_ENST00000409988.3_Missense_Mutation_p.S452L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	452						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CCTGCCAAGTCGCAGGGCAGT	0.493																																																	0													16	20	19					2																	201342432		1946	4134	6080	SO:0001583	missense	0			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1355C>T	2.37:g.201342432C>T	ENSP00000351503:p.Ser452Leu		A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.S482L	ENST00000358677.5	37	c.1445	CCDS46483.1	2	.	.	.	.	.	.	.	.	.	.	C	8.684	0.905723	0.17760	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.65	2.65	0.31530	.	0.508271	0.18468	N	0.140310	T	0.25644	0.0624	N	0.19112	0.55	0.09310	N	0.999995	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.19160	-1.0314	9	0.66056	D	0.02	-0.0106	6.7436	0.23449	0.1393:0.7066:0.0:0.1541	.	482;383;452	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	L	452;452;452;392;452;383;452;482;460	.	ENSP00000351503:S452L	S	+	2	0	SPATS2L	201050677	0.189000	0.23263	0.204000	0.23530	0.791000	0.44710	1.259000	0.32956	0.386000	0.24997	0.655000	0.94253	TCG	SPATS2L	-	NULL	ENSG00000196141		0.493	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3		0	35	0	C	NM_015535		201342432	1			no_errors	ENST00000409755	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.326	T	T	201342432	C	T	201342432	3	4	91	1	0	0	0	0	1	0	0	0	15067	893	31	1	1397	1	SPATS2L	2	201342432	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1205457	201342432	41856941	67	26140											
CFLAR	8837	genome.wustl.edu	37	chr2	201997801	201997801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataaatctgatgtgtccTcattaattttcctcatgaag	11	16	7	7	0	3	2	2	2	1	0	5	3	5	3	2	1	0	0	2	1	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:201997801T>A	ENST00000309955.3	+	3	846	c.331T>A	c.(331-333)Tca>Aca	p.S111T	CFLAR_ENST00000341222.6_Missense_Mutation_p.S111T|CFLAR_ENST00000355558.4_Missense_Mutation_p.S111T|CFLAR_ENST00000443227.1_Missense_Mutation_p.S15T|CFLAR_ENST00000340870.5_Missense_Mutation_p.S111T|CFLAR_ENST00000342795.5_Missense_Mutation_p.S111T|CFLAR_ENST00000341582.6_Missense_Mutation_p.S111T|CFLAR_ENST00000423241.2_Missense_Mutation_p.S111T|CFLAR_ENST00000479953.2_Missense_Mutation_p.S15T|CFLAR_ENST00000440180.1_Missense_Mutation_p.S111T|CFLAR_ENST00000494258.1_Missense_Mutation_p.S15T|CFLAR_ENST00000395148.2_Missense_Mutation_p.S111T|CFLAR_ENST00000457277.1_Missense_Mutation_p.S111T	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	111	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TGATGTGTCCTCATTAATTTT	0.428																																					Pancreas(16;548 657 22190 32864 42338)												0													164	145	151					2																	201997801		2203	4300	6503	SO:0001583	missense	0			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.331T>A	2.37:g.201997801T>A	ENSP00000312455:p.Ser111Thr		B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_ICE_p20	p.S111T	ENST00000309955.3	37	c.331	CCDS2337.1	2	.	.	.	.	.	.	.	.	.	.	T	16.46	3.129966	0.56721	.	.	ENSG00000003402	ENST00000309955;ENST00000443227;ENST00000341222;ENST00000355558;ENST00000340870;ENST00000343375;ENST00000341582;ENST00000342795;ENST00000395148;ENST00000441224;ENST00000423241;ENST00000417748;ENST00000440180;ENST00000457277	D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	6.17	2.34	0.29019	DEATH-like (2);Death effector (3);	0.556556	0.19645	N	0.109351	D	0.90017	0.6883	M	0.80028	2.48	0.38674	D	0.952375	D;P;D;D;D;P;B;P	0.76494	0.999;0.891;0.997;0.996;0.995;0.928;0.363;0.885	D;P;D;D;D;P;P;P	0.79108	0.992;0.771;0.972;0.932;0.97;0.591;0.452;0.771	D	0.89293	0.3620	10	0.52906	T	0.07	-1.4504	12.2648	0.54672	0.0:0.0:0.4076:0.5924	.	15;111;111;111;111;111;111;111	O15519-3;C9JK38;O15519-11;O15519-8;O15519;O15519-12;O15519-2;E9PAP3	.;.;.;.;CFLAR_HUMAN;.;.;.	T	111;15;111;111;111;15;111;111;111;111;111;111;111;111	ENSP00000312455:S111T;ENSP00000413270:S15T;ENSP00000339335:S111T;ENSP00000347757:S111T;ENSP00000339326:S111T;ENSP00000345807:S111T;ENSP00000342809:S111T;ENSP00000399420:S111T;ENSP00000406775:S111T;ENSP00000411535:S111T	ENSP00000312455:S111T	S	+	1	0	CFLAR	201706046	0.953000	0.32496	0.441000	0.26858	0.284000	0.27059	1.794000	0.38774	0.157000	0.19338	-0.313000	0.08912	TCA	CFLAR	-	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	ENSG00000003402		0.428	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CFLAR	HGNC	protein_coding	OTTHUMT00000256276.3	-	0	72	0	T	NM_003879		201997801	1	tier1	-	no_errors	ENST00000309955	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.360	A	A	201997801	T	A	201997801	3	1	91	1	0	0	0	0	1	0	0	0	3299	1551	54	5	337	5	CFLAR	2	201997801	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	655369	201997801	41201572	68	26141											
CASP8	841	genome.wustl.edu	37	chr2	202131421	202131421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctcttccgaattaataGactggatttgctgattacct	9	15	8	9	1	1	2	0	1	1	1	2	4	2	3	2	1	3	3	2	1	4	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:202131421G>A	ENST00000432109.2	+	3	401	c.212G>A	c.(211-213)aGa>aAa	p.R71K	CASP8_ENST00000264275.5_Missense_Mutation_p.R71K|CASP8_ENST00000392258.3_Missense_Mutation_p.R71K|CASP8_ENST00000264274.9_Missense_Mutation_p.R71K|CASP8_ENST00000392259.2_Missense_Mutation_p.R71K|CASP8_ENST00000392266.3_Missense_Mutation_p.R71K|CASP8_ENST00000323492.7_Missense_Mutation_p.R71K|CASP8_ENST00000358485.4_Missense_Mutation_p.R130K	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	71	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CGAATTAATAGACTGGATTTG	0.458										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													65	66	66					2																	202131421		2203	4300	6503	SO:0001583	missense	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"Caspases"	1509	protein-coding gene	gene with protein product		601763	"caspase 8, apoptosis-related cysteine protease"			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.212G>A	2.37:g.202131421G>A	ENSP00000412523:p.Arg71Lys		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.R130K	ENST00000432109.2	37	c.389	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727044	0.69074	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.58	3.79	0.43588	DEATH-like (2);Death effector (3);	0.117372	0.64402	D	0.000015	D	0.92496	0.7617	H	0.94462	3.54	0.09310	N	1	P;D;D;D;D;D;D;D;D	0.76494	0.783;0.994;0.996;0.998;0.999;0.998;0.995;0.993;0.996	B;D;D;D;D;D;P;P;D	0.72075	0.287;0.958;0.93;0.976;0.944;0.973;0.897;0.871;0.93	D	0.85392	0.1126	10	0.07813	T	0.8	.	11.5745	0.50854	0.1282:0.0:0.8718:0.0	.	71;71;71;71;130;71;71;71;71	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	K	71;71;71;71;71;71;71;71;71;130;71;71;71;71	ENSP00000376091:R71K;ENSP00000264274:R71K;ENSP00000376088:R71K;ENSP00000376094:R71K;ENSP00000412523:R71K;ENSP00000264275:R71K;ENSP00000396869:R71K;ENSP00000376087:R71K;ENSP00000388306:R71K;ENSP00000351273:R130K;ENSP00000397528:R71K;ENSP00000325722:R71K;ENSP00000390641:R71K	ENSP00000264274:R71K	R	+	2	0	CASP8	201839666	0.960000	0.32886	0.003000	0.11579	0.007000	0.05969	5.608000	0.67654	0.718000	0.32166	0.561000	0.74099	AGA	CASP8	-	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	ENSG00000064012		0.458	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2		0	44	0	G	NM_001228		202131421	1			no_errors	ENST00000358485	ensembl	human	known	74_37	missense	5.88	31	2	SNP	0.040	A	A	202131421	G	A	202131421	3	1	91	1	0	0	0	0	1	0	0	0	2684	942	33	3	395	3	CASP8	2	202131421	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	133620	202131421	41067952	69	26142											
ZDBF2	57683	genome.wustl.edu	37	chr2	207174791	207174791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acataaaaattaatgctctgGtgaaggagtttagggaaggt	15	11	12	3	0	1	1	0	1	1	0	1	3	1	3	0	4	1	2	0	4	7	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:207174791G>T	ENST00000374423.3	+	5	5925	c.5539G>T	c.(5539-5541)Gtg>Ttg	p.V1847L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1847							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAATGCTCTGGTGAAGGAGTT	0.413																																																	0													76	73	74					2																	207174791		1866	4109	5975	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"Zinc fingers, DBF-type"	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5539G>T	2.37:g.207174791G>T	ENSP00000363545:p.Val1847Leu		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.V1847L	ENST00000374423.3	37	c.5539	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541605	0.85917	.	.	ENSG00000204186	ENST00000374423	T	0.62788	-0.0	5.11	5.11	0.69529	.	.	.	.	.	T	0.74390	0.3710	L	0.44542	1.39	0.32916	D	0.515206	D	0.76494	0.999	D	0.76071	0.987	T	0.80070	-0.1536	9	0.66056	D	0.02	.	18.5847	0.91185	0.0:0.0:1.0:0.0	.	1847	Q9HCK1	ZDBF2_HUMAN	L	1847	ENSP00000363545:V1847L	ENSP00000363545:V1847L	V	+	1	0	ZDBF2	206883036	1.000000	0.71417	0.967000	0.41034	0.868000	0.49771	3.650000	0.54424	2.393000	0.81446	0.551000	0.68910	GTG	ZDBF2	-	NULL	ENSG00000204186		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1		0	39	0	G	NM_020923		207174791	1			no_errors	ENST00000374423	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	207174791	G	T	207174791	3	4	91	1	0	0	0	0	1	0	0	0	17647	1261	44	3	5549	3	ZDBF2	2	207174791	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5043370	207174791	36024582	70	26143											
CPS1	1373	genome.wustl.edu	37	chr2	211471635	211471635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaatgccagactgtcccGaagctctgctctggcctcaa	9	9	10	13	1	3	2	1	1	2	1	4	3	4	2	3	1	3	2	3	1	3	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:211471635G>A	ENST00000233072.5	+	18	2358	c.2162G>A	c.(2161-2163)cGa>cAa	p.R721Q	CPS1_ENST00000430249.2_Missense_Mutation_p.R727Q|CPS1_ENST00000451903.2_Missense_Mutation_p.R270Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	721	ATP-grasp 1.		R -> Q (in CPS1D). {ECO:0000269|PubMed:21120950}.	RLSRS -> KMSPN (in Ref. 1; BAA14328). {ECO:0000305}.	anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGACTGTCCCGAAGCTCTGCT	0.443																																																	0													83	74	77					2																	211471635		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2162G>A	2.37:g.211471635G>A	ENSP00000233072:p.Arg721Gln		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.R727Q	ENST00000233072.5	37	c.2180	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.540602	0.96474	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98717	-5.09;-5.09;-5.09	5.73	5.73	0.89815	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.99859	4.855	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97157	0.9835	10	0.87932	D	0	-28.6625	19.9597	0.97242	0.0:0.0:1.0:0.0	.	731;721	Q59HF8;P31327	.;CPSM_HUMAN	Q	727;729;721;270	ENSP00000402608:R727Q;ENSP00000233072:R721Q;ENSP00000406136:R270Q	ENSP00000233072:R721Q	R	+	2	0	CPS1	211179880	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.472000	0.97709	2.723000	0.93209	0.586000	0.80456	CGA	CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.443	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	30	0	G			211471635	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	35.00	13	7	SNP	1.000	A	A	211471635	G	A	211471635	3	1	91	1	0	0	0	0	1	0	0	0	3830	1058	37	1	2254	1	CPS1	2	211471635	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4296844	211471635	31727738	71	26144											
ACSL3	2181	genome.wustl.edu	37	chr2	223773522	223773522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtgtcttcaaaaccatctaCcatgaagctaaaacatacca	16	9	4	12	1	3	1	1	1	2	0	3	1	3	1	3	0	5	1	3	0	7	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:223773522C>T	ENST00000357430.3	+	4	563	c.32C>T	c.(31-33)aCc>aTc	p.T11I	ACSL3_ENST00000392066.3_Missense_Mutation_p.T11I	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	11					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AAACCATCTACCATGAAGCTA	0.299			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0													62	70	67					2																	223773522		2133	4269	6402	SO:0001583	missense	0			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"Acyl-CoA synthetase family"	3570	protein-coding gene	gene with protein product		602371	"fatty-acid-Coenzyme A ligase, long-chain 3"	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.32C>T	2.37:g.223773522C>T	ENSP00000350012:p.Thr11Ile		Q60I92|Q8IUM9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T11I	ENST00000357430.3	37	c.32	CCDS2455.1	2	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109050	0.37242	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000535678;ENST00000413316	T;T	0.34275	1.37;1.37	5.22	4.34	0.51931	.	0.486738	0.20458	N	0.091956	T	0.29223	0.0727	L	0.43152	1.355	0.30313	N	0.788356	B	0.16396	0.017	B	0.11329	0.006	T	0.21827	-1.0234	10	0.51188	T	0.08	-4.8998	8.1033	0.30870	0.1674:0.7504:0.0:0.0823	.	11	O95573	ACSL3_HUMAN	I	11	ENSP00000350012:T11I;ENSP00000375918:T11I	ENSP00000350012:T11I	T	+	2	0	ACSL3	223481766	0.807000	0.29009	0.984000	0.44739	0.994000	0.84299	0.547000	0.23299	1.427000	0.47276	0.655000	0.94253	ACC	ACSL3	-	NULL	ENSG00000123983		0.299	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL3	HGNC	protein_coding	OTTHUMT00000256862.2	-	0	61	0	C	NM_004457		223773522	1	tier1	-	no_errors	ENST00000357430	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.981	T	T	223773522	C	T	223773522	3	4	91	1	0	0	0	0	1	0	0	0	178	507	18	3	34	3	ACSL3	2	223773522	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	12301887	223773522	19425851	72	26145											
KIAA1486	57624	genome.wustl.edu	37	chr2	226447094	226447094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccccaaggggctgctttgcGacatccctccgcccttcccc	4	8	8	21	2	0	0	0	0	0	0	3	1	3	0	7	2	2	2	7	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:226447094G>A	ENST00000272907.6	+	4	1374	c.961G>A	c.(961-963)Gac>Aac	p.D321N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	321	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GCTGCTTTGCGACATCCCTCC	0.642																																																	0													49	52	51					2																	226447094		1985	4146	6131	SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"KIAA1486"	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.961G>A	2.37:g.226447094G>A	ENSP00000272907:p.Asp321Asn		A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.D321N	ENST00000272907.6	37	c.961	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268026	0.80469	.	.	ENSG00000144460	ENST00000272907	T	0.55930	0.49	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.69949	0.3168	M	0.80422	2.495	0.80722	D	1	D	0.60160	0.987	P	0.53450	0.726	T	0.73113	-0.4085	10	0.62326	D	0.03	-30.8854	20.1381	0.98040	0.0:0.0:1.0:0.0	.	321	Q9P242	K1486_HUMAN	N	321	ENSP00000272907:D321N	ENSP00000272907:D321N	D	+	1	0	KIAA1486	226155338	1.000000	0.71417	0.985000	0.45067	0.673000	0.39480	9.476000	0.97823	2.763000	0.94921	0.650000	0.86243	GAC	NYAP2	-	NULL	ENSG00000144460		0.642	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1		0	13	0	G	NM_020864		226447094	1			no_errors	ENST00000272907	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	A	A	226447094	G	A	226447094	3	1	91	1	0	0	0	0	1	0	0	0	8264	1058	37	1	971	1	KIAA1486	2	226447094	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2673572	226447094	16752279	73	26146											
KCNJ13	3769	genome.wustl.edu	37	chr2	233633414	233633414	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggtcgggtgttggccacTtggaagataagattaggttt	9	13	14	5	1	0	2	0	0	0	2	1	3	0	3	1	5	0	2	1	5	4	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr2:233633414T>A	ENST00000233826.3	-	3	709	c.570A>T	c.(568-570)caA>caT	p.Q190H	GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000373566.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.Q190H|GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|AC064852.4_ENST00000427571.1_RNA|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron	NM_002242.4	NP_002233.2	O60928	KCJ13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	190					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	inward rectifier potassium channel activity (GO:0005242)			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGTTGGCCACTTGGAAGATAA	0.478																																																	0													141	141	141					2																	233633414		2203	4300	6503	SO:0001583	missense	0			AJ006128	CCDS2498.1, CCDS54437.1	2q37	2014-01-28			ENSG00000115474	ENSG00000115474		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6259	protein-coding gene	gene with protein product		603208				9878260, 9620703, 16382105	Standard	NM_002242		Approved	Kir7.1, Kir1.4, LCA16	uc002vtp.3	O60928	OTTHUMG00000153292	ENST00000233826.3:c.570A>T	2.37:g.233633414T>A	ENSP00000233826:p.Gln190His		A0PGH1|O76023|Q53SA1|Q8N3Y4	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_KCNJ13,prints_K_chnl_inward-rec_Kir	p.Q190H	ENST00000233826.3	37	c.570	CCDS2498.1	2	.	.	.	.	.	.	.	.	.	.	T	18.53	3.644100	0.67244	.	.	ENSG00000115474	ENST00000233826;ENST00000410029;ENST00000438786	D;D;D	0.91792	-2.91;-2.91;-2.91	6.07	6.07	0.98685	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.108127	0.64402	D	0.000002	D	0.93132	0.7813	L	0.56769	1.78	0.52501	D	0.999956	D	0.55385	0.971	P	0.55161	0.77	D	0.93419	0.6775	10	0.87932	D	0	.	11.1894	0.48677	0.0:0.0761:0.0:0.9239	.	190	O60928	IRK13_HUMAN	H	190;190;110	ENSP00000233826:Q190H;ENSP00000386251:Q190H;ENSP00000407284:Q110H	ENSP00000233826:Q190H	Q	-	3	2	KCNJ13	233341658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.174000	0.50847	2.326000	0.78906	0.533000	0.62120	CAA	KCNJ13	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000115474		0.478	KCNJ13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ13	HGNC	protein_coding	OTTHUMT00000257036.1	-	0	27	0	T	NM_002242		233633414	-1	tier1	-	no_errors	ENST00000233826	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	A	A	233633414	T	A	233633414	3	1	91	1	0	0	0	0	1	0	0	0	8074	1606	56	5	516	5	KCNJ13	2	233633414	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	7186320	233633414	9565959	74	26147											
IRAK2	3656	genome.wustl.edu	37	chr3	10261453	10261453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctgcatggtctggagatCatccacagcaacgtcaagag	12	8	10	11	1	3	2	2	0	1	2	4	3	4	2	2	2	4	2	2	2	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:10261453C>T	ENST00000256458.4	+	8	1083	c.993C>T	c.(991-993)atC>atT	p.I331I	RNU6-814P_ENST00000410416.1_RNA	NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTCTGGAGATCATCCACAGCA	0.632																																																	0													75	61	66					3																	10261453		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.993C>T	3.37:g.10261453C>T			B4DQZ6|Q08AG6|Q5K546	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I331	ENST00000256458.4	37	c.993	CCDS33697.1	3																																																																																			IRAK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134070		0.632	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	-	0	40	0	C			10261453	1	tier1	-	no_errors	ENST00000256458	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.977	T	T	10261453	C	T	10261453	2	4	91	1	0	0	0	0	0	0	0	1	7850	816	29	3		3	IRAK2	3	10261453	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09		10261453	187760977	75	26148											
GRIP2	80852	genome.wustl.edu	37	chr3	14559283	14559283	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaggcacattacatcGgctttggtcctggccagcag	8	8	13	12	1	0	0	0	0	0	0	2	0	1	0	2	5	2	4	2	5	1	2	rs575150002		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:14559283G>C	ENST00000273083.3	-	0	1217							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						ACATTACATCGGCTTTGGTCC	0.642																																																	0													20	25	23					3																	14559283		2027	4169	6196			0			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14559283G>C			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-	ENSG00000144596		0.642	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	-	0	91	0	G	NM_001080423		14559283	-1	tier1	-	no_errors	ENST00000273083	ensembl	human	known	74_37	rna	28.33	43	17	SNP	1.000	C	C	14559283	G	C	14559283	1	2	91	0	1	0	0	0	0	0	0	0	6815	1124	39	5		5	GRIP2	3	14559283	RNA	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4297830	14559283	183463147	76	26149											
AZI2	64343	genome.wustl.edu	37	chr3	28378343	28378343	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaacttttccacctccCagtttgatgaaggtggattt	9	14	8	10	0	1	2	1	2	0	0	3	3	3	3	3	2	2	2	3	2	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:28378343C>T	ENST00000479665.1	-	5	1004	c.473G>A	c.(472-474)tGg>tAg	p.W158*	AZI2_ENST00000457172.1_Nonsense_Mutation_p.W158*|AZI2_ENST00000334100.6_Nonsense_Mutation_p.W158*|AZI2_ENST00000420543.2_Nonsense_Mutation_p.W158*|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	158	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTCCACCTCCCAGTTTGATGA	0.378																																																	0													131	119	123					3																	28378343		2203	4300	6503	SO:0001587	stop_gained	0			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.473G>A	3.37:g.28378343C>T	ENSP00000419371:p.Trp158*		A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Nonsense_Mutation	SNP	NULL	p.W158*	ENST00000479665.1	37	c.473	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.076041	0.98640	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.243	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	X	158	.	ENSP00000335609:W158X	W	-	2	0	AZI2	28353347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.772000	0.75001	2.801000	0.96364	0.650000	0.86243	TGG	AZI2	-	NULL	ENSG00000163512		0.378	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	-	0	50	0	C	NM_203326		28378343	-1	tier1	-	no_errors	ENST00000479665	ensembl	human	known	74_37	nonsense	25.00	24	8	SNP	1.000	T	T	28378343	C	T	28378343	4	4	91	1	0	0	0	0	0	1	0	0	1242	595	21	3	810	3	AZI2	3	28378343	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	13819060	28378343	169644087	77	26150											
SCN10A	6336	genome.wustl.edu	37	chr3	38738990	38738990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagcagtttcagatttGtctgggagtacacaattttc	11	13	10	7	0	2	2	1	0	1	2	3	3	2	3	0	1	2	4	0	1	3	5	rs376432760		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:38738990G>T	ENST00000449082.2	-	27	5720	c.5721C>A	c.(5719-5721)gaC>gaA	p.D1907E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1907					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTTCAGATTTGTCTGGGAGTA	0.473																																																	0													177	162	167					3																	38738990		2203	4300	6503	SO:0001583	missense	0			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10582	protein-coding gene	gene with protein product		604427	"sodium channel, voltage-gated, type X, alpha polypeptide"			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5721C>A	3.37:g.38738990G>T	ENSP00000390600:p.Asp1907Glu		A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.D1907E	ENST00000449082.2	37	c.5721	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.159804	0.00321	.	.	ENSG00000185313	ENST00000449082	D	0.95307	-3.67	5.38	3.61	0.41365	.	0.221517	0.27258	U	0.020188	D	0.87712	0.6246	N	0.08118	0	0.27459	N	0.953209	D	0.59767	0.986	P	0.54401	0.751	T	0.80979	-0.1140	10	0.02654	T	1	.	6.58	0.22588	0.214:0.1301:0.6559:0.0	.	1907	Q9Y5Y9	SCNAA_HUMAN	E	1907	ENSP00000390600:D1907E	ENSP00000390600:D1907E	D	-	3	2	SCN10A	38713994	0.724000	0.28038	1.000000	0.80357	0.146000	0.21551	-0.091000	0.11146	0.849000	0.35215	-0.136000	0.14681	GAC	SCN10A	-	NULL	ENSG00000185313		0.473	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	-	0	50	0	G	NM_006514		38738990	-1	tier1	-	no_errors	ENST00000449082	ensembl	human	known	74_37	missense	20.83	19	5	SNP	1.000	T	T	38738990	G	T	38738990	3	4	91	1	0	0	0	0	1	0	0	0	13957	1368	48	3	153	3	SCN10A	3	38738990	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	10360647	38738990	159283440	78	26151											
RBM6	10180	genome.wustl.edu	37	chr3	50005402	50005402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggccggggcacttatGatttagattttagaggccgg	8	11	15	7	2	1	3	1	1	0	2	1	3	1	3	2	6	0	1	2	6	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:50005402G>T	ENST00000266022.4	+	3	803	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_Missense_Mutation_p.D50Y|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	182					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGGCACTTATGATTTAGATTT	0.493																																																	0													46	49	48					3																	50005402		2203	4300	6503	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.544G>T	3.37:g.50005402G>T	ENSP00000266022:p.Asp182Tyr		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D182Y	ENST00000266022.4	37	c.544	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868977	0.51588	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.34072	1.38;1.43	6.04	6.04	0.98038	.	0.141160	0.51477	D	0.000099	T	0.55321	0.1913	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.42068	-0.9473	9	.	.	.	-17.5556	18.7597	0.91845	0.0:0.0:1.0:0.0	.	182	P78332	RBM6_HUMAN	Y	182;50	ENSP00000266022:D182Y;ENSP00000396466:D50Y	.	D	+	1	0	RBM6	49980406	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.314000	0.59166	2.873000	0.98535	0.561000	0.74099	GAT	RBM6	-	NULL	ENSG00000004534		0.493	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	-	0	49	0	G	NM_005777		50005402	1	tier1	-	no_errors	ENST00000266022	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T	T	50005402	G	T	50005402	3	4	91	1	0	0	0	0	1	0	0	0	13189	1290	45	3	550	3	RBM6	3	50005402	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	11266412	50005402	148017028	79	26152											
ABHD6	57406	genome.wustl.edu	37	chr3	58242358	58242358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgattgcgggcggcacGctggccatcccaatcctggc	5	10	13	13	3	0	1	0	1	0	0	2	1	2	1	3	4	1	2	3	4	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:58242358G>A	ENST00000478253.1	+	3	546	c.45G>A	c.(43-45)acG>acA	p.T15T	ABHD6_ENST00000295962.4_Silent_p.T15T			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	15					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CGGGCGGCACGCTGGCCATCC	0.458																																																	0													172	163	166					3																	58242358		2203	4300	6503	SO:0001819	synonymous_variant	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"Abhydrolase domain containing"	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.45G>A	3.37:g.58242358G>A			B2R7Y9|Q6ZMF7	Silent	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.T15	ENST00000478253.1	37	c.45	CCDS2887.1	3																																																																																			ABHD6	-	NULL	ENSG00000163686		0.458	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	-	0	83	0	G	NM_020676		58242358	1	tier1	-	no_errors	ENST00000295962	ensembl	human	known	74_37	silent	43.24	21	16	SNP	0.004	A	A	58242358	G	A	58242358	2	1	91	1	0	0	0	0	0	0	0	1	86	1074	38	1		1	ABHD6	3	58242358	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8236956	58242358	139780072	80	26153											
DCBLD2	131566	genome.wustl.edu	37	chr3	98520488	98520488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataggtgccttcagtttttTtctttctggaaaaatacaga	11	16	7	7	0	3	1	1	0	2	1	3	2	3	2	1	2	2	1	1	2	4	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:98520488T>C	ENST00000326840.6	-	14	2038	c.1676A>G	c.(1675-1677)aAa>aGa	p.K559R	DCBLD2_ENST00000326857.9_Missense_Mutation_p.K559R	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	559					cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTCAGTTTTTTTCTTTCTGGA	0.463																																																	0													48	50	50					3																	98520488		1848	4086	5934	SO:0001583	missense	0				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1676A>G	3.37:g.98520488T>C	ENSP00000321573:p.Lys559Arg		B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.K559R	ENST00000326840.6	37	c.1676	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119015	0.56505	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.92348	-3.02;-2.92	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.61703	1.905	0.80722	D	1	B;D	0.69078	0.244;0.997	B;D	0.75020	0.091;0.985	D	0.93911	0.7197	10	0.38643	T	0.18	-25.7778	13.6816	0.62489	0.0:0.0:0.0:1.0	.	559;559	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	R	559	ENSP00000321573:K559R;ENSP00000321646:K559R	ENSP00000321573:K559R	K	-	2	0	DCBLD2	100003178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.276000	0.65580	2.178000	0.69098	0.533000	0.62120	AAA	DCBLD2	-	NULL	ENSG00000057019		0.463	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	-	0	50	0	T	NM_080927		98520488	-1	tier1	-	no_errors	ENST00000326857	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	C	C	98520488	T	C	98520488	3	2	91	1	0	0	0	0	1	0	0	0	4290	1841	64	4	663	4	DCBLD2	3	98520488	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	40278130	98520488	99501942	81	26154											
SLC9A10	285335	genome.wustl.edu	37	chr3	111996674	111996674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaagaactaagatataatTaaccaaaaagccgggaattg	20	7	7	7	1	0	2	0	0	0	2	0	3	0	3	3	1	3	0	3	1	9	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:111996674T>A	ENST00000305815.5	-	5	604	c.352A>T	c.(352-354)Aat>Tat	p.N118Y	SLC9C1_ENST00000467397.1_5'Flank|SLC9C1_ENST00000487372.1_Missense_Mutation_p.N118Y	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	118					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AAGATATAATTAACCAAAAAG	0.308																																																	0													55	62	60					3																	111996674		2198	4298	6496	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"Solute carriers"	31401	protein-coding gene	gene with protein product	"sperm-NHE"	612738	"solute carrier family 9, isoform 10", "solute carrier family 9, member 10"	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.352A>T	3.37:g.111996674T>A	ENSP00000306627:p.Asn118Tyr		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.N118Y	ENST00000305815.5	37	c.352	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	T	13.36	2.212936	0.39102	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.13657	2.57;2.57;2.57	5.13	5.13	0.70059	Cation/H+ exchanger (1);	0.000000	0.53938	D	0.000047	T	0.30916	0.0780	L	0.53249	1.67	0.34217	D	0.674945	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	T	0.43877	-0.9364	10	0.62326	D	0.03	.	11.3459	0.49561	0.0:0.0:0.0:1.0	.	118;118	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Y	118;118;45	ENSP00000306627:N118Y;ENSP00000420688:N118Y;ENSP00000417274:N45Y	ENSP00000306627:N118Y	N	-	1	0	SLC9A10	113479364	0.998000	0.40836	0.526000	0.27913	0.059000	0.15707	3.858000	0.55979	1.925000	0.55765	0.533000	0.62120	AAT	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.308	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	-	0	40	0	T	NM_183061		111996674	-1	tier1	-	no_errors	ENST00000305815	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.954	A	A	111996674	T	A	111996674	3	1	91	1	0	0	0	0	1	0	0	0	14755	1754	61	5	3281	5	SLC9A10	3	111996674	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	13476186	111996674	86025756	82	26155											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119133256	119133256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgaagtcccaagacaGccctgagatctctagcctct	10	8	8	15	0	2	3	0	2	2	2	4	4	3	3	4	0	3	1	4	0	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:119133256G>T	ENST00000264245.4	+	12	3012	c.2480G>T	c.(2479-2481)aGc>aTc	p.S827I		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	827					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCCCAAGACAGCCCTGAGATC	0.512																																					Pancreas(7;176 297 5394 51128 51241)												0													50	52	52					3																	119133256		1930	4128	6058	SO:0001583	missense	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2480G>T	3.37:g.119133256G>T	ENSP00000264245:p.Ser827Ile		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S827I	ENST00000264245.4	37	c.2480	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016873	0.54576	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08370	3.1	4.77	1.99	0.26369	.	0.203595	0.36101	N	0.002800	T	0.06690	0.0171	L	0.32530	0.975	0.22457	N	0.999089	P	0.40476	0.718	B	0.40009	0.316	T	0.23833	-1.0177	10	0.87932	D	0	.	5.7474	0.18128	0.173:0.1599:0.667:0.0	.	827	Q2M1Z3	RHG31_HUMAN	I	827	ENSP00000264245:S827I	ENSP00000264245:S827I	S	+	2	0	ARHGAP31	120615946	0.125000	0.22332	0.374000	0.26016	0.028000	0.11728	0.369000	0.20416	0.225000	0.20959	-0.175000	0.13238	AGC	ARHGAP31	-	NULL	ENSG00000031081		0.512	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	-	0	33	0	G			119133256	1	tier1	-	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.528	T	T	119133256	G	T	119133256	3	4	91	1	0	0	0	0	1	0	0	0	880	971	34	3	2526	3	ARHGAP31	3	119133256	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7136582	119133256	78889174	83	26156											
FSTL1	11167	genome.wustl.edu	37	chr3	120123704	120123704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcggttcctctcacctaaGcaacttgttgttctcctggt	5	16	7	13	1	3	0	1	0	3	0	7	0	4	0	3	2	2	4	3	2	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:120123704G>C	ENST00000295633.3	-	7	933	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	FSTL1_ENST00000424703.2_Missense_Mutation_p.L158V	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	193	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCTCACCTAAGCAACTTGTTG	0.468																																																	0													256	241	246					3																	120123704		2203	4300	6503	SO:0001583	missense	0			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"EF-hand domain containing"	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.577C>G	3.37:g.120123704G>C	ENSP00000295633:p.Leu193Val		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.L193V	ENST00000295633.3	37	c.577	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781078	0.70222	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703	T;T	0.32023	2.32;1.47	6.06	6.06	0.98353	EF-hand-like domain (1);	0.247438	0.42682	D	0.000670	T	0.33847	0.0877	L	0.55481	1.735	0.80722	D	1	B;B	0.34329	0.449;0.314	B;B	0.34385	0.181;0.119	T	0.03684	-1.1013	10	0.42905	T	0.14	.	17.7768	0.88511	0.0:0.0:1.0:0.0	.	158;193	B4DTT5;Q12841	.;FSTL1_HUMAN	V	193;136;158	ENSP00000295633:L193V;ENSP00000394355:L158V	ENSP00000295633:L193V	L	-	1	0	FSTL1	121606394	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.715000	0.91416	2.882000	0.98803	0.655000	0.94253	CTT	FSTL1	-	pfscan_EF_hand_dom	ENSG00000163430		0.468	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	-	0	68	0	G	NM_007085		120123704	-1	tier1	-	no_errors	ENST00000295633	ensembl	human	known	74_37	missense	19.51	33	8	SNP	1.000	C	C	120123704	G	C	120123704	3	2	91	1	0	0	0	0	1	0	0	0	6101	971	34	5	369	5	FSTL1	3	120123704	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	990448	120123704	77898726	84	26157											
SEMA5B	54437	genome.wustl.edu	37	chr3	122680064	122680064	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtatcaggcggcccaGggacgaggtggtgggcaaca	8	5	19	9	2	1	0	1	0	0	0	1	2	1	1	1	8	1	2	1	8	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:122680064G>T	ENST00000357599.3	-	2	433	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.P70H|SEMA5B_ENST00000465147.1_Intron|SEMA5B_ENST00000195173.4_Missense_Mutation_p.P16H	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGCGGCCCAGGGACGAGGTG	0.612																																																	0													75	67	70					3																	122680064		2203	4300	6503	SO:0001583	missense	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"Semaphorins"	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.47C>A	3.37:g.122680064G>T	ENSP00000350215:p.Pro16His		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.P70H	ENST00000357599.3	37	c.209	CCDS35491.1	3	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785091	0.31593	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000451055;ENST00000393583;ENST00000421053;ENST00000449546	T;T;T;T	0.36699	1.31;1.24;1.3;1.41	3.1	-1.53	0.08611	.	.	.	.	.	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.28900	0.227	B	0.33042	0.157	T	0.26430	-1.0103	9	0.62326	D	0.03	.	3.3284	0.07075	0.4436:0.2158:0.3407:0.0	.	16	Q9P283	SEM5B_HUMAN	H	16;16;70;16;16;16	ENSP00000350215:P16H;ENSP00000195173:P16H;ENSP00000389588:P70H;ENSP00000377208:P16H	ENSP00000195173:P16H	P	-	2	0	SEMA5B	124162754	0.026000	0.19158	0.000000	0.03702	0.003000	0.03518	0.235000	0.17948	-0.231000	0.09825	-0.216000	0.12614	CCT	SEMA5B	-	NULL	ENSG00000082684		0.612	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	-	0	40	0	G	NM_001031702		122680064	-1	tier1	-	no_errors	ENST00000451055	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.000	T	T	122680064	G	T	122680064	3	4	91	1	0	0	0	0	1	0	0	0	14083	1000	35	3	3496	3	SEMA5B	3	122680064	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2556360	122680064	75342366	85	26158											
PIK3R4	30849	genome.wustl.edu	37	chr3	130409453	130409453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagccttggcagaatgtGagcgtcttgactcgtcctcc	6	11	13	11	2	1	3	0	2	1	1	4	4	3	4	3	2	2	1	3	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:130409453G>A	ENST00000356763.3	-	14	3701	c.3144C>T	c.(3142-3144)ctC>ctT	p.L1048L	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1048					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1048L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCAGAATGTGAGCGTCTTGA	0.403																																																	1	Substitution - coding silent(1)	large_intestine(1)											113	108	110					3																	130409453		2203	4300	6503	SO:0001819	synonymous_variant	0			Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"WD repeat domain containing"	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3144C>T	3.37:g.130409453G>A			Q2TBF4	Silent	SNP	pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1048	ENST00000356763.3	37	c.3144	CCDS3067.1	3																																																																																			PIK3R4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000196455		0.403	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R4	HGNC	protein_coding	OTTHUMT00000356668.1	-	0	25	0	G	NM_014602		130409453	-1	tier1	-	no_errors	ENST00000356763	ensembl	human	known	74_37	silent	52.17	11	12	SNP	0.962	A	A	130409453	G	A	130409453	2	1	91	1	0	0	0	0	0	0	0	1	11960	1277	45	3		3	PIK3R4	3	130409453	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7729389	130409453	67612977	86	26159											
NEK11	79858	genome.wustl.edu	37	chr3	130893611	130893611	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttatattttattttttagCaactcacagctgactttcag	10	20	4	7	0	2	1	2	1	0	0	2	1	2	1	0	0	3	2	0	0	5	9			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:130893611C>T	ENST00000511262.1	+	15	1693	c.1400C>T	c.(1399-1401)gCa>gTa	p.A467V	NEK11_ENST00000510769.1_Intron|NEK11_ENST00000383366.4_Intron|NEK11_ENST00000508196.1_Intron|NEK11_ENST00000429253.2_Intron|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000507910.1_Intron|NEK11_ENST00000356918.4_Intron|NEK11_ENST00000412440.2_Intron	NM_145910.3	NP_665917.1			NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TATTTTTTAGCAACTCACAGC	0.383																																																	0													67	60	62					3																	130893611		1820	4075	5895	SO:0001630	splice_region_variant	0			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"NIMA (never in mitosis gene a)- related kinase 11"				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000511262.1:c.1400-1C>T	3.37:g.130893611C>T				Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A467V	ENST00000511262.1	37	c.1400	CCDS46915.1	3	.	.	.	.	.	.	.	.	.	.	C	5.201	0.222588	0.09863	.	.	ENSG00000114670	ENST00000511262	T	0.70749	-0.51	2.25	0.307	0.15811	.	.	.	.	.	T	0.47600	0.1454	.	.	.	0.09310	N	0.999998	P	0.44659	0.84	B	0.34590	0.186	T	0.36480	-0.9746	7	.	.	.	.	2.8537	0.05565	0.27:0.5657:0.0:0.1643	.	467	Q8NG66-2	.	V	467	ENSP00000425114:A467V	.	A	+	2	0	NEK11	132376301	0.000000	0.05858	0.002000	0.10522	0.075000	0.17131	-0.710000	0.05024	0.057000	0.16193	-0.263000	0.10527	GCA	NEK11	-	NULL	ENSG00000114670		0.383	NEK11-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NEK11	HGNC	protein_coding	OTTHUMT00000356756.1	-	0	22	0	C	NM_024800	Missense_Mutation	130893611	1	tier1	-	no_errors	ENST00000511262	ensembl	human	known	74_37	missense	33.33	14	7	SNP	0.002	T	T	130893611	C	T	130893611	5	4	91	1	0	0	0	0	0	0	1	0	10362	724	25	3	1450	3	NEK11	3	130893611	Splice_Site	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	484158	130893611	67128819	87	26160											
EPHB1	2047	genome.wustl.edu	37	chr3	134977896	134977896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttggcaggccatcagaaGaagatcctgaacagcattca	14	7	9	11	0	2	4	2	1	0	3	3	4	3	4	3	2	2	2	3	2	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:134977896G>A	ENST00000398015.3	+	16	3259	c.2889G>A	c.(2887-2889)aaG>aaA	p.K963K	EPHB1_ENST00000493838.1_Silent_p.K524K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	963	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCATCAGAAGAAGATCCTGA	0.468																																																	0													67	62	64					3																	134977896		1950	4161	6111	SO:0001819	synonymous_variant	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2889G>A	3.37:g.134977896G>A			A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K963	ENST00000398015.3	37	c.2889	CCDS46921.1	3																																																																																			EPHB1	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000154928		0.468	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	HGNC	protein_coding	OTTHUMT00000357671.1	-	0	43	0	G	NM_004441		134977896	1	tier1	-	no_errors	ENST00000398015	ensembl	human	known	74_37	silent	20.00	16	4	SNP	1.000	A	A	134977896	G	A	134977896	2	1	91	1	0	0	0	0	0	0	0	1	5190	933	33	3		3	EPHB1	3	134977896	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4084285	134977896	63044534	88	26161											
ATR	545	genome.wustl.edu	37	chr3	142226817	142226817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatattttgcttcttttctgTaataaatgattcaaagtgca	13	18	5	5	0	3	1	1	1	2	0	3	1	3	1	0	0	2	3	0	0	6	9			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:142226817T>C	ENST00000350721.4	-	28	5108	c.4987A>G	c.(4987-4989)Aca>Gca	p.T1663A	ATR_ENST00000383101.3_Missense_Mutation_p.T1599A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1663	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCTTTTCTGTAATAAATGAT	0.358								Other conserved DNA damage response genes																																									0													67	68	68					3																	142226817		2203	4300	6503	SO:0001583	missense	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"	601215	"ataxia telangiectasia and Rad3 related"			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4987A>G	3.37:g.142226817T>C	ENSP00000343741:p.Thr1663Ala		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.T1663A	ENST00000350721.4	37	c.4987	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	T	5.306	0.241828	0.10077	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.20738	2.05;2.05	5.42	5.42	0.78866	PIK-related kinase (1);Tetratricopeptide-like helical (1);	0.368951	0.30850	N	0.008741	T	0.14270	0.0345	N	0.20766	0.605	0.30176	N	0.800831	B	0.12630	0.006	B	0.11329	0.006	T	0.09335	-1.0679	10	0.13108	T	0.6	-4.1249	15.4559	0.75314	0.0:0.0:0.0:1.0	.	1663	Q13535	ATR_HUMAN	A	1663;1599	ENSP00000343741:T1663A;ENSP00000372581:T1599A	ENSP00000343741:T1663A	T	-	1	0	ATR	143709507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.101000	0.41787	2.051000	0.60960	0.482000	0.46254	ACA	ATR	-	pfscan_PIK_FAT	ENSG00000175054		0.358	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	-	0	38	0	T	NM_001184		142226817	-1	tier1	-	no_errors	ENST00000350721	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	C	C	142226817	T	C	142226817	3	2	91	1	0	0	0	0	1	0	0	0	1205	1638	57	4	3027	4	ATR	3	142226817	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	7248921	142226817	55795613	89	26162											
PLSCR4	57088	genome.wustl.edu	37	chr3	145924348	145924348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaccaggagggcagtttgCcataggagttggccctggca	9	7	15	10	0	0	1	0	0	0	1	0	3	0	3	3	5	1	4	3	5	1	3	rs34752991	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:145924348C>T	ENST00000354952.2	-	4	559	c.319G>A	c.(319-321)Gca>Aca	p.A107T	PLSCR4_ENST00000433593.2_Missense_Mutation_p.A92T|PLSCR4_ENST00000493382.1_Missense_Mutation_p.A107T|PLSCR4_ENST00000383083.2_Missense_Mutation_p.A107T|PLSCR4_ENST00000446574.2_Missense_Mutation_p.A107T	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	107					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GGGCAGTTTGCCATAGGAGTT	0.443																																																	0													127	121	123					3																	145924348		2203	4300	6503	SO:0001583	missense	0			AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.319G>A	3.37:g.145924348C>T	ENSP00000347038:p.Ala107Thr		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	pfam_Scramblase	p.A107T	ENST00000354952.2	37	c.319	CCDS3133.1	3	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006930	0.35415	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000460885;ENST00000476202;ENST00000481701	T;T;T;T;T;T;T;T;T	0.42131	1.93;1.5;1.53;1.93;1.93;1.93;0.98;1.93;1.93	4.33	2.47	0.30058	.	0.346258	0.25109	N	0.033066	T	0.24353	0.0590	N	0.16368	0.405	0.09310	N	1	B;B	0.27625	0.001;0.183	B;B	0.26693	0.003;0.072	T	0.14337	-1.0476	10	0.33141	T	0.24	.	9.0571	0.36412	0.0:0.3136:0.5377:0.1487	.	107;107	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	T	107;107;92;107;107;107;107;107;107	ENSP00000347038:A107T;ENSP00000372561:A107T;ENSP00000415605:A92T;ENSP00000399315:A107T;ENSP00000419040:A107T;ENSP00000417896:A107T;ENSP00000420385:A107T;ENSP00000418173:A107T;ENSP00000418419:A107T	ENSP00000347038:A107T	A	-	1	0	PLSCR4	147407038	0.051000	0.20477	0.007000	0.13788	0.479000	0.33129	0.692000	0.25482	0.542000	0.28846	-0.171000	0.13296	GCA	PLSCR4	-	pfam_Scramblase	ENSG00000114698		0.443	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLSCR4	HGNC	protein_coding	OTTHUMT00000355172.1	-	0	42	0	C	NM_020353		145924348	-1	tier1	-	no_errors	ENST00000354952	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.025	T	T	145924348	C	T	145924348	3	4	91	1	0	0	0	0	1	0	0	0	12151	739	26	3	694	3	PLSCR4	3	145924348	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3697531	145924348	52098082	90	26163											
HPS3	84343	genome.wustl.edu	37	chr3	148857972	148857972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attattgaaatgccgctttcGgaggcccccttgtgcatttc	7	14	9	11	2	0	1	0	1	0	0	2	2	0	2	3	2	2	2	3	2	2	5	rs563502898		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:148857972G>A	ENST00000296051.2	+	2	539	c.399G>A	c.(397-399)tcG>tcA	p.S133S	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	133					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGCCGCTTTCGGAGGCCCCCT	0.438									Hermansky-Pudlak syndrome				G|||	1	0.000199681	8e-04	0	5008	,	,		18548	0		0	False		,,,				2504	0																0													133	132	132					3																	148857972		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.399G>A	3.37:g.148857972G>A			A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	pirsf_HPS3	p.S133	ENST00000296051.2	37	c.399	CCDS3140.1	3																																																																																			HPS3	-	pirsf_HPS3	ENSG00000163755		0.438	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1		0	27	0	G	NM_032383		148857972	1			no_errors	ENST00000296051	ensembl	human	known	74_37	silent	10.00	27	3	SNP	0.000	A	A	148857972	G	A	148857972	2	1	91	1	0	0	0	0	0	0	0	1	7367	1103	39	1		1	HPS3	3	148857972	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2933624	148857972	49164458	91	26164											
TSC22D2	9819	genome.wustl.edu	37	chr3	150128711	150128711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctagtgtgtctaccacttCtgttactatgccaaatgtac	9	14	7	11	0	2	0	0	0	2	0	2	0	2	0	3	0	4	2	3	0	6	6	rs139411630	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:150128711C>T	ENST00000361875.3	+	1	2590	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	TSC22D2_ENST00000361136.2_Missense_Mutation_p.S525F	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	525					response to osmotic stress (GO:0006970)		sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCTACCACTTCTGTTACTATG	0.612																																																	0								C	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	60	62	61		1574	4.6	1	3	dbSNP_134	61	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TSC22D2	NM_014779.2	155	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	525/781	150128711	5,13001	2203	4300	6503	SO:0001583	missense	0			AB014569	CCDS3149.1	3q25.1	2005-03-01			ENSG00000196428	ENSG00000196428			29095	protein-coding gene	gene with protein product						9734811	Standard	NM_014779		Approved	KIAA0669, TILZ4a, TILZ4b, TILZ4c	uc003exv.3	O75157	OTTHUMG00000159744	ENST00000361875.3:c.1574C>T	3.37:g.150128711C>T	ENSP00000354543:p.Ser525Phe		D3DNI5|Q6PI50|Q9H2Z6|Q9H2Z7|Q9H2Z8	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.S525F	ENST00000361875.3	37	c.1574	CCDS3149.1	3	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099498	0.76983	2.27E-4	4.65E-4	ENSG00000196428	ENST00000361875;ENST00000361136	T;T	0.34859	1.4;1.34	4.56	4.56	0.56223	.	0.122882	0.35555	N	0.003124	T	0.46678	0.1405	L	0.27053	0.805	0.41827	D	0.990058	D;D	0.69078	0.997;0.995	D;P	0.66497	0.944;0.88	T	0.53294	-0.8459	10	0.72032	D	0.01	.	16.9661	0.86286	0.0:1.0:0.0:0.0	.	525;525	O75157-2;O75157	.;T22D2_HUMAN	F	525	ENSP00000354543:S525F;ENSP00000354893:S525F	ENSP00000354893:S525F	S	+	2	0	TSC22D2	151611401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.653000	0.46691	2.089000	0.63090	0.563000	0.77884	TCT	TSC22D2	-	NULL	ENSG00000196428		0.612	TSC22D2-001	KNOWN	basic|CCDS	protein_coding	TSC22D2	HGNC	protein_coding	OTTHUMT00000357123.2	-	0	41	0	C	NM_014779		150128711	1	tier1	rs139411630	no_errors	ENST00000361875	ensembl	human	known	74_37	missense	20.00	20	5	SNP	1.000	T	T	150128711	C	T	150128711	3	4	91	1	0	0	0	0	1	0	0	0	16656	913	32	3	1576	3	TSC22D2	3	150128711	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1270739	150128711	47893719	92	26165											
MED12L	116931	genome.wustl.edu	37	chr3	150873950	150873950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttttaaaatgcagagTggacacagatatctaccaga	14	13	7	7	0	2	3	0	0	2	3	2	4	2	4	1	1	2	1	1	1	4	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:150873950T>C	ENST00000474524.1	+	5	597	c.559T>C	c.(559-561)Tgg>Cgg	p.W187R	MED12L_ENST00000273432.4_Missense_Mutation_p.W187R|MED12L_ENST00000309237.4_Missense_Mutation_p.W187R|MED12L_ENST00000422248.2_Missense_Mutation_p.W187R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	187						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGCAGAGTGGACACAGAT	0.438																																																	0													65	65	65					3																	150873950		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.559T>C	3.37:g.150873950T>C	ENSP00000417235:p.Trp187Arg		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.W187R	ENST00000474524.1	37	c.559	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	20.1	3.935687	0.73442	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.66099	0.13;0.1;-0.14;-0.19	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000001	T	0.77246	0.4102	M	0.72894	2.215	0.39018	D	0.959684	D;D;D;D	0.76494	0.999;0.99;0.999;0.998	D;D;D;D	0.85130	0.996;0.969;0.997;0.994	T	0.81831	-0.0752	10	0.87932	D	0	-7.6072	13.8419	0.63444	0.0:0.0:0.0:1.0	.	187;187;187;187	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	R	187	ENSP00000403308:W187R;ENSP00000310760:W187R;ENSP00000417235:W187R;ENSP00000273432:W187R	ENSP00000273432:W187R	W	+	1	0	MED12L	152356640	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.575000	0.82447	1.811000	0.52892	0.455000	0.32223	TGG	MED12L	-	NULL	ENSG00000144893		0.438	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0	33	0	T	NM_053002		150873950	1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	C	C	150873950	T	C	150873950	3	2	91	1	0	0	0	0	1	0	0	0	9467	1696	59	4	577	4	MED12L	3	150873950	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	745239	150873950	47148480	93	26166											
GFM1	85476	genome.wustl.edu	37	chr3	158409146	158409146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaaagggagaatacacaatgGagtatagcaggtatcagcca	17	6	12	6	0	1	1	1	0	0	1	1	4	1	2	1	3	3	3	1	3	7	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:158409146G>C	ENST00000486715.1	+	18	2503	c.2146G>C	c.(2146-2148)Gag>Cag	p.E716Q	GFM1_ENST00000264263.5_Missense_Mutation_p.E735Q|RP11-379F4.7_ENST00000607624.1_lincRNA	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			ATACACAATGGAGTATAGCAG	0.348																																																	0													96	96	96					3																	158409146		2203	4300	6503	SO:0001583	missense	0			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"G translation elongation factor, mitochondrial"			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.2146G>C	3.37:g.158409146G>C	ENSP00000419038:p.Glu716Gln			Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.E716Q	ENST00000486715.1	37	c.2146	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713842	0.89112	.	.	ENSG00000168827	ENST00000486715;ENST00000264263	T;T	0.65916	-0.18;-0.18	5.66	5.66	0.87406	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.77452	0.4132	L	0.61036	1.89	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.69479	0.959;0.964	T	0.75892	-0.3157	10	0.45353	T	0.12	-14.2736	19.7559	0.96291	0.0:0.0:1.0:0.0	.	735;716	Q96RP9-2;Q96RP9	.;EFGM_HUMAN	Q	716;735	ENSP00000419038:E716Q;ENSP00000264263:E735Q	ENSP00000264263:E735Q	E	+	1	0	GFM1	159891840	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.035000	0.93752	2.656000	0.90262	0.655000	0.94253	GAG	GFM1	-	pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V,tigrfam_Transl_elong_EFG/EF2	ENSG00000168827		0.348	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	-	0	23	0	G	NM_024996		158409146	1	tier1	-	no_errors	ENST00000486715	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	C	C	158409146	G	C	158409146	3	2	91	1	0	0	0	0	1	0	0	0	6367	1175	41	5	2216	5	GFM1	3	158409146	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7535196	158409146	39613284	94	26167											
EHHADH	1962	genome.wustl.edu	37	chr3	184922287	184922287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccacttatttgctttcCtttcagcgaagaaagcatat	11	15	6	9	1	1	2	1	1	0	1	2	3	2	2	2	0	3	2	2	0	4	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:184922287C>A	ENST00000231887.3	-	6	902	c.827G>T	c.(826-828)aGg>aTg	p.R276M	EHHADH_ENST00000456310.1_Missense_Mutation_p.R180M	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	276	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			ATTTGCTTTCCTTTCAGCGAA	0.493																																																	0													129	127	128					3																	184922287		2203	4300	6503	SO:0001583	missense	0			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.827G>T	3.37:g.184922287C>A	ENSP00000231887:p.Arg276Met		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.R276M	ENST00000231887.3	37	c.827	CCDS33901.1	3	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023880	0.54683	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.72942	-0.7;-0.7	5.53	0.294	0.15747	.	0.211576	0.46442	D	0.000284	D	0.83408	0.5248	M	0.91354	3.2	0.80722	D	1	D	0.71674	0.998	D	0.65773	0.938	T	0.83295	-0.0031	10	0.87932	D	0	-8.068	9.7337	0.40376	0.0:0.6222:0.0:0.3778	.	276	Q08426	ECHP_HUMAN	M	276;276;180	ENSP00000231887:R276M;ENSP00000387746:R180M	ENSP00000231887:R276M	R	-	2	0	EHHADH	186404981	0.496000	0.26059	0.154000	0.22540	0.500000	0.33767	0.998000	0.29744	0.000000	0.14550	0.650000	0.86243	AGG	EHHADH	-	NULL	ENSG00000113790		0.493	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1		0	34	0	C			184922287	-1			no_errors	ENST00000231887	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.716	A	A	184922287	C	A	184922287	3	1	91	1	0	0	0	0	1	0	0	0	4996	681	24	3	1352	3	EHHADH	3	184922287	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	26513141	184922287	13100143	95	26168											
RFC4	5984	genome.wustl.edu	37	chr3	186508161	186508161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagccactctgacaggcaGcaaatactccatcaattttc	14	9	6	12	0	2	2	1	1	1	1	4	2	3	2	2	1	3	2	2	1	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:186508161G>A	ENST00000392481.2	-	9	1117	c.836C>T	c.(835-837)gCt>gTt	p.A279V	RFC4_ENST00000296273.2_Missense_Mutation_p.A279V|RFC4_ENST00000433496.1_Intron|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	279					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTGACAGGCAGCAAATACTCC	0.388																																																	0													111	112	112					3																	186508161		2203	4300	6503	SO:0001583	missense	0				CCDS3283.1	3q27	2010-04-21	2002-08-29		ENSG00000163918	ENSG00000163918		"ATPases / AAA-type"	9972	protein-coding gene	gene with protein product	"A1 37 kDa subunit", "activator 1 37 kDa subunit", "RFC 37 kDa subunit"	102577	"replication factor C (activator 1) 4 (37kD)"			7774928	Standard	NM_181573		Approved	A1, RFC37	uc003fqz.3	P35249	OTTHUMG00000156515	ENST00000392481.2:c.836C>T	3.37:g.186508161G>A	ENSP00000376272:p.Ala279Val		B4DM41|D3DNV2|Q6FHX7	Missense_Mutation	SNP	pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.A279V	ENST00000392481.2	37	c.836	CCDS3283.1	3	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256157	0.22965	.	.	ENSG00000163918	ENST00000392481;ENST00000296273;ENST00000417876	T;T;T	0.44482	0.92;0.92;0.92	5.32	2.3	0.28687	Replication factor C (1);DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.708200	0.15878	N	0.240169	T	0.23886	0.0578	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.14531	-1.0469	10	0.35671	T	0.21	.	7.0599	0.25119	0.0814:0.0:0.4835:0.4351	.	279	P35249	RFC4_HUMAN	V	279;279;54	ENSP00000376272:A279V;ENSP00000296273:A279V;ENSP00000401429:A54V	ENSP00000296273:A279V	A	-	2	0	RFC4	187990855	0.997000	0.39634	0.091000	0.20842	0.513000	0.34164	2.374000	0.44274	0.699000	0.31761	0.561000	0.74099	GCT	RFC4	-	pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C	ENSG00000163918		0.388	RFC4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC4	HGNC	protein_coding	OTTHUMT00000344471.1	-	0	32	0	G	NM_002916		186508161	-1	tier1	-	no_errors	ENST00000296273	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.259	A	A	186508161	G	A	186508161	3	1	91	1	0	0	0	0	1	0	0	0	13292	971	34	3	267	3	RFC4	3	186508161	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1585874	186508161	11514269	96	26169											
IL1RAP	3556	genome.wustl.edu	37	chr3	190373709	190373709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtttttgatttcattcaGagaagcagaaggatgattgt	12	14	11	4	0	2	4	2	2	0	2	2	6	2	5	0	1	1	3	0	1	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:190373709G>C	ENST00000317757.3	+	12	1583	c.1377G>C	c.(1375-1377)caG>caC	p.Q459H	IL1RAP_ENST00000443369.2_Missense_Mutation_p.Q459H	NM_001167931.1	NP_001161403.1	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	459	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATTTCATTCAGAGAAGCAGAA	0.388																																																	0													121	99	106					3																	190373709		692	1591	2283	SO:0001583	missense	0			AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000317757.3:c.1377G>C	3.37:g.190373709G>C	ENSP00000314807:p.Gln459His		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ	p.Q459H	ENST00000317757.3	37	c.1377	CCDS54696.1	3	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863114	0.51482	.	.	ENSG00000196083	ENST00000443369;ENST00000317757	T;T	0.08370	3.1;3.1	5.76	2.9	0.33743	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.00230	-1.1897	8	0.52906	T	0.07	.	9.8105	0.40820	0.2285:0.0:0.7715:0.0	.	459	Q9NPH3-5	.	H	459	ENSP00000408893:Q459H;ENSP00000314807:Q459H	ENSP00000314807:Q459H	Q	+	3	2	IL1RAP	191856403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.252000	0.43196	0.301000	0.22738	0.655000	0.94253	CAG	IL1RAP	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000196083		0.388	IL1RAP-006	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	IL1RAP	HGNC	protein_coding	OTTHUMT00000343502.1	-	0	66	0	G			190373709	1	tier1	-	no_errors	ENST00000443369	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	C	C	190373709	G	C	190373709	3	2	91	1	0	0	0	0	1	0	0	0	7687	933	33	5	1807	5	IL1RAP	3	190373709	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3865548	190373709	7648721	97	26170											
TNK2	10188	genome.wustl.edu	37	chr3	195594983	195594983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcctgcagttgcctcatgCactcctgctgtagcgcctgg	5	10	12	14	1	1	0	1	0	0	0	2	1	2	0	4	1	6	5	4	1	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr3:195594983C>A	ENST00000333602.6	-	12	2758	c.2141G>T	c.(2140-2142)tGc>tTc	p.C714F	TNK2_ENST00000428187.1_Missense_Mutation_p.C746F|TNK2_ENST00000381916.2_Missense_Mutation_p.C792F|TNK2_ENST00000392400.1_Missense_Mutation_p.C714F	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	714	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TTGCCTCATGCACTCCTGCTG	0.711																																																	0													12	14	13					3																	195594983		2186	4281	6467	SO:0001583	missense	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"activated Cdc42-associated kinase 1"	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2141G>T	3.37:g.195594983C>A	ENSP00000329425:p.Cys714Phe		Q6ZMQ0|Q8N6U7|Q96H59	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.C792F	ENST00000333602.6	37	c.2375	CCDS33928.1	3	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731084	0.48939	.	.	ENSG00000061938	ENST00000333602;ENST00000381916;ENST00000416152;ENST00000428187;ENST00000392400	T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.66925	0.2839	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.987;0.999	P;P;P;D	0.71184	0.858;0.899;0.737;0.972	T	0.68953	-0.5273	10	0.62326	D	0.03	.	18.2161	0.89886	0.0:1.0:0.0:0.0	.	714;792;746;239	Q07912;Q07912-3;C9J1X3;B3KXJ4	ACK1_HUMAN;.;.;.	F	714;792;281;746;714	ENSP00000329425:C714F;ENSP00000371341:C792F;ENSP00000398614:C281F;ENSP00000392546:C746F;ENSP00000376201:C714F	ENSP00000329425:C714F	C	-	2	0	TNK2	197079380	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	3.268000	0.51585	2.649000	0.89929	0.581000	0.79447	TGC	TNK2	-	NULL	ENSG00000061938		0.711	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3		0	27	0	C	NM_005781		195594983	-1			no_errors	ENST00000381916	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A	A	195594983	C	A	195594983	3	1	91	1	0	0	0	0	1	0	0	0	16365	710	25	3	991	3	TNK2	3	195594983	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	5221274	195594983	2427447	98	26171											
FBXL5	26234	genome.wustl.edu	37	chr4	15638248	15638248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgaaaattgacagcattAcctcaggaggaagatgggtt	14	9	12	6	0	1	3	1	2	0	1	1	5	1	5	1	3	3	3	1	3	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:15638248A>G	ENST00000341285.3	-	5	759	c.635T>C	c.(634-636)gTa>gCa	p.V212A	FBXL5_ENST00000412094.2_Missense_Mutation_p.V195A|FBXL5_ENST00000382358.4_Missense_Mutation_p.V86A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	212	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TGACAGCATTACCTCAGGAGG	0.403																																																	0													121	103	109					4																	15638248		2203	4300	6503	SO:0001583	missense	0			AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"F-boxes / Leucine-rich repeats"	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.635T>C	4.37:g.15638248A>G	ENSP00000344866:p.Val212Ala		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	pfam_F-box_dom,pfam_Leu-rich_rpt,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.V212A	ENST00000341285.3	37	c.635	CCDS3415.1	4	.	.	.	.	.	.	.	.	.	.	A	26.0	4.697671	0.88830	.	.	ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000382358;ENST00000512066	T;T;T;T	0.58652	0.67;0.67;0.67;0.32	5.28	5.28	0.74379	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.110731	0.64402	D	0.000006	T	0.71031	0.3292	L	0.52266	1.64	0.58432	D	0.999992	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	T	0.74210	-0.3739	10	0.87932	D	0	-16.2431	15.498	0.75673	1.0:0.0:0.0:0.0	.	195;212	Q9UKA1-2;Q9UKA1	.;FBXL5_HUMAN	A	212;195;86;172	ENSP00000344866:V212A;ENSP00000408679:V195A;ENSP00000371795:V86A;ENSP00000426993:V172A	ENSP00000344866:V212A	V	-	2	0	FBXL5	15247346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.098000	0.89540	2.121000	0.65114	0.482000	0.46254	GTA	FBXL5	-	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	ENSG00000118564		0.403	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL5	HGNC	protein_coding	OTTHUMT00000214235.2	-	0	40	0	A			15638248	-1	tier1	-	no_errors	ENST00000341285	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	G	G	15638248	A	G	15638248	3	3	91	1	0	0	0	0	1	0	0	0	5744	391	14	4	1468	4	FBXL5	4	15638248	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09		15638248	175516028	99	26172											
LRRC66	339977	genome.wustl.edu	37	chr4	52861992	52861992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtctgtcaacataaGgccttgtgaaagcccccagg	11	7	10	13	0	2	1	1	1	1	0	2	1	2	1	4	2	2	0	4	2	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:52861992G>T	ENST00000343457.3	-	4	1202	c.1196C>A	c.(1195-1197)cCt>cAt	p.P399H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	399						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTCAACATAAGGCCTTGTGAA	0.547																																																	0													64	66	65					4																	52861992		1961	4156	6117	SO:0001583	missense	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1196C>A	4.37:g.52861992G>T	ENSP00000341944:p.Pro399His			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P399H	ENST00000343457.3	37	c.1196	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485542	0.44147	.	.	ENSG00000188993	ENST00000343457	T	0.51574	0.7	4.67	4.67	0.58626	.	0.000000	0.42964	D	0.000633	T	0.65533	0.2700	M	0.63843	1.955	0.38241	D	0.941324	D	0.89917	1.0	D	0.97110	1.0	T	0.72037	-0.4411	10	0.87932	D	0	-18.3676	14.6507	0.68794	0.0:0.0:1.0:0.0	.	399	Q68CR7	LRC66_HUMAN	H	399	ENSP00000341944:P399H	ENSP00000341944:P399H	P	-	2	0	LRRC66	52556749	1.000000	0.71417	0.819000	0.32651	0.039000	0.13416	6.117000	0.71577	2.306000	0.77630	0.467000	0.42956	CCT	LRRC66	-	NULL	ENSG00000188993		0.547	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	-	0	40	0	G	NM_001024611		52861992	-1	tier1	-	no_errors	ENST00000343457	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.991	T	T	52861992	G	T	52861992	3	4	91	1	0	0	0	0	1	0	0	0	9053	1000	35	3	1450	3	LRRC66	4	52861992	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	37223744	52861992	138292284	100	26173											
LPHN3	23284	genome.wustl.edu	37	chr4	62599069	62599069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtatatgaggatgatgAcaatgaggctactggaaata	15	11	11	4	0	1	4	0	4	1	0	1	6	1	6	0	3	1	2	0	3	6	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:62599069A>G	ENST00000514591.1	+	7	1321	c.992A>G	c.(991-993)gAc>gGc	p.D331G	LPHN3_ENST00000514996.1_Missense_Mutation_p.D331G|LPHN3_ENST00000504896.1_Missense_Mutation_p.D331G|LPHN3_ENST00000512091.2_Missense_Mutation_p.D331G|LPHN3_ENST00000506720.1_Missense_Mutation_p.D399G|LPHN3_ENST00000545650.1_Missense_Mutation_p.D331G|LPHN3_ENST00000507625.1_Missense_Mutation_p.D399G|LPHN3_ENST00000506746.1_Missense_Mutation_p.D399G|LPHN3_ENST00000514157.1_Missense_Mutation_p.D331G|LPHN3_ENST00000509896.1_Missense_Mutation_p.D399G|LPHN3_ENST00000508946.1_Missense_Mutation_p.D331G|LPHN3_ENST00000506700.1_Missense_Mutation_p.D331G|LPHN3_ENST00000507164.1_Missense_Mutation_p.D399G|LPHN3_ENST00000508693.1_Missense_Mutation_p.D399G|LPHN3_ENST00000511324.1_Missense_Mutation_p.D399G			Q9HAR2	LPHN3_HUMAN	latrophilin 3	331	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.D331V(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGGATGATGACAATGAGGCT	0.378																																																	3	Substitution - Missense(3)	lung(3)											121	107	112					4																	62599069		1942	4145	6087	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"-", "GPCR / Class B : Orphans"	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.992A>G	4.37:g.62599069A>G	ENSP00000422533:p.Asp331Gly		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D399G	ENST00000514591.1	37	c.1196	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096505	0.56075	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	L	0.42245	1.32	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.999;0.996	D;D;D	0.85130	0.997;0.997;0.987	D	0.95552	0.8621	10	0.87932	D	0	.	14.4261	0.67218	1.0:0.0:0.0:0.0	.	331;399;331	E9PE04;E7EN28;Q9HAR2-2	.;.;.	G	331;331;399;399;331;331;331;331;331;399;399;399;331;331;331;399;399;331	ENSP00000423388:D331G;ENSP00000422533:D331G;ENSP00000423787:D399G;ENSP00000425033:D399G;ENSP00000424120:D331G;ENSP00000439831:D331G;ENSP00000421476:D399G;ENSP00000424030:D399G;ENSP00000421372:D399G;ENSP00000425201:D331G;ENSP00000423434:D331G;ENSP00000421627:D331G;ENSP00000420931:D399G;ENSP00000425884:D399G;ENSP00000424258:D331G	ENSP00000280009:D331G	D	+	2	0	LPHN3	62281664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	1.999000	0.58509	0.455000	0.32223	GAC	LPHN3	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000150471		0.378	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1		0	28	0	A			62599069	1			no_errors	ENST00000507625	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	G	G	62599069	A	G	62599069	3	3	91	1	0	0	0	0	1	0	0	0	8952	275	10	4	1010	4	LPHN3	4	62599069	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	9737077	62599069	128555207	101	26174											
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68780427	68780427	+	Frame_Shift_Del	DEL	C	C	-																															tgattttcactctggcttctCggagatcattttgggattcc																								rs150048717		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:68780427delC	ENST00000334830.7	-	9	1729	c.983delG	c.(982-984)cgafs	p.R328fs	TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.R325fs|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.R324fs|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	328	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.R328Q(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCTGGCTTCTCGGAGATCATT	0.388																																					NSCLC(26;2 894 10941 14480 22546)												1	Substitution - Missense(1)	large_intestine(1)											138	130	132					4																	68780427		2203	4300	6503	SO:0001589	frameshift_variant	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.983delG	4.37:g.68780427delC	ENSP00000334611:p.Arg328fs		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R328fs	ENST00000334830.7	37	c.983	CCDS3519.1	4																																																																																			TMPRSS11A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1	ENSG00000187054		0.388	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3		0	61	0	C	NM_182606		68780427	-1	tier1		no_errors	ENST00000334830	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.991	-	-	68780427	C	-	68780427	7	5	91	1	0	1	0	1	0	0	0	0	16286	884	31	0	290	0	TMPRSS11A	4	68780427	Frame_Shift_Del	DEL	C	TCGA-L5-A8NS-01A-12D-A37C-09	6181358	68780427	122373849	102	26175											
MTHFD2L	441024	genome.wustl.edu	37	chr4	75041020	75041020	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgtagtgagctcattctAaaacctaaggatgtttctca	12	15	7	7	0	3	1	2	1	2	0	4	2	3	2	1	1	2	3	1	1	4	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:75041020A>G	ENST00000395759.2	+	3	378	c.351A>G	c.(349-351)ctA>ctG	p.L117L	MTHFD2L_ENST00000325278.6_Silent_p.L59L|MTHFD2L_ENST00000433372.1_5'UTR|MTHFD2L_ENST00000331145.6_Silent_p.L59L	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	117					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGCTCATTCTAAAACCTAAGG	0.388																																																	0													142	138	139					4																	75041020		2203	4299	6502	SO:0001819	synonymous_variant	0			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.351A>G	4.37:g.75041020A>G			Q6P079|Q8N560	Silent	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L117	ENST00000395759.2	37	c.351	CCDS47075.1	4																																																																																			MTHFD2L	-	pfam_THF_DH/CycHdrlase_cat_dom	ENSG00000163738		0.388	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		-	0	63	0	A	NM_001004346		75041020	1	tier1	-	no_errors	ENST00000395759	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.998	G	G	75041020	A	G	75041020	2	3	91	1	0	0	0	0	0	0	0	1	9968	349	13	4		4	MTHFD2L	4	75041020	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	6260593	75041020	116113256	103	26176											
FRAS1	80144	genome.wustl.edu	37	chr4	79340102	79340102	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttcttaaactttgtttaGgctagagaagatggcctgac	10	14	9	8	0	1	3	0	1	1	2	2	4	2	3	2	2	1	2	2	2	5	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:79340102G>A	ENST00000325942.6	+	33	4865		c.e33-1		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTTTGTTTAGGCTAGAGAAG	0.393																																																	0													134	126	128					4																	79340102		1846	4088	5934	SO:0001630	splice_region_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4426-1G>A	4.37:g.79340102G>A			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	-	e33-1	ENST00000325942.6	37	c.4426-1	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	9.052	0.992279	0.18966	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9499	0.86242	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79559126	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	7.053000	0.76641	2.595000	0.87683	0.655000	0.94253	.	FRAS1	-	-	ENSG00000138759		0.393	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	-	0	55	0	G		Intron	79340102	1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	splice_site	12.90	27	4	SNP	1.000	A	A	79340102	G	A	79340102	5	1	91	1	0	0	0	0	0	0	1	0	6066	1014	35	3	4555	3	FRAS1	4	79340102	Splice_Site	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4299082	79340102	111814174	104	26177											
C4orf22	255119	genome.wustl.edu	37	chr4	81284011	81284011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagcggctatagagattgCaagactggctgaaagagctc	14	7	13	7	1	0	4	0	1	0	3	1	6	0	4	0	2	3	4	0	2	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:81284011C>T	ENST00000358105.3	+	2	264	c.215C>T	c.(214-216)gCa>gTa	p.A72V	C4orf22_ENST00000508675.1_Missense_Mutation_p.A72V|C4orf22_ENST00000512931.1_3'UTR	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	72										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						ATAGAGATTGCAAGACTGGCT	0.453																																																	0													121	127	125					4																	81284011		2203	4300	6503	SO:0001583	missense	0			BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.215C>T	4.37:g.81284011C>T	ENSP00000350818:p.Ala72Val		E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	NULL	p.A72V	ENST00000358105.3	37	c.215	CCDS3587.1	4	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513599	0.64522	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.32753	1.44;1.44	5.21	5.21	0.72293	.	0.174652	0.34879	N	0.003603	T	0.44705	0.1306	M	0.75777	2.31	0.33237	D	0.55671	P;P	0.40398	0.716;0.58	P;P	0.45681	0.49;0.454	T	0.58081	-0.7699	10	0.39692	T	0.17	.	17.8844	0.88849	0.0:1.0:0.0:0.0	.	72;72	E7EQ13;Q6V702	.;CD022_HUMAN	V	72	ENSP00000350818:A72V;ENSP00000425786:A72V	ENSP00000350818:A72V	A	+	2	0	C4orf22	81503035	1.000000	0.71417	0.998000	0.56505	0.693000	0.40251	3.662000	0.54510	2.588000	0.87417	0.585000	0.79938	GCA	C4orf22	-	NULL	ENSG00000197826		0.453	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	HGNC	protein_coding	OTTHUMT00000252629.2		0	66	0	C	NM_152770		81284011	1			no_errors	ENST00000508675	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	81284011	C	T	81284011	3	4	91	1	0	0	0	0	1	0	0	0	2262	710	25	3	221	3	C4orf22	4	81284011	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1943909	81284011	109870265	105	26178											
AFF1	4299	genome.wustl.edu	37	chr4	88056848	88056848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaagaattaaccaaaacaCcttaatggagccccaggttg	16	8	7	10	0	0	1	0	0	0	1	0	2	0	2	4	2	4	1	4	2	7	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:88056848C>G	ENST00000307808.6	+	20	4048	c.3628C>G	c.(3628-3630)Cct>Gct	p.P1210A	AFF1_ENST00000395146.4_Missense_Mutation_p.P1218A|AFF1_ENST00000544085.1_Missense_Mutation_p.P849A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1210					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AACCAAAACACCTTAATGGAG	0.458																																																	0													56	52	53					4																	88056848		2203	4300	6503	SO:0001583	missense	0			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2", "pre-B-cell monocytic leukemia partner 1"	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3628C>G	4.37:g.88056848C>G	ENSP00000305689:p.Pro1210Ala		B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.P1218A	ENST00000307808.6	37	c.3652	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	C	11.81	1.751070	0.31046	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.75821	-0.27;-0.26;-0.97	5.51	4.67	0.58626	.	0.195497	0.36338	N	0.002655	T	0.71409	0.3336	L	0.56769	1.78	0.41115	D	0.985773	P;P;P	0.48407	0.91;0.91;0.91	B;B;B	0.42462	0.388;0.388;0.388	T	0.75900	-0.3154	10	0.87932	D	0	-0.0579	12.2789	0.54753	0.0:0.921:0.0:0.079	.	1218;1211;1210	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	A	1218;1210;849	ENSP00000378578:P1218A;ENSP00000305689:P1210A;ENSP00000440843:P849A	ENSP00000305689:P1210A	P	+	1	0	AFF1	88275872	1.000000	0.71417	0.948000	0.38648	0.157000	0.22087	5.180000	0.65048	1.462000	0.47948	0.655000	0.94253	CCT	AFF1	-	NULL	ENSG00000172493		0.458	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3		0	62	0	C	NM_005935		88056848	1			no_errors	ENST00000395146	ensembl	human	known	74_37	missense	11.43	30	4	SNP	0.996	G	G	88056848	C	G	88056848	3	3	91	1	0	0	0	0	1	0	0	0	356	507	18	5	3751	5	AFF1	4	88056848	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6772837	88056848	103097428	106	26179											
PKD2	5311	genome.wustl.edu	37	chr4	88967995	88967995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactatttcaggagtttctgGaattgtctggatgttgtgat	8	17	11	5	0	3	1	1	1	2	0	3	4	3	4	0	3	0	2	0	3	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:88967995G>T	ENST00000237596.2	+	6	1587	c.1521G>T	c.(1519-1521)tgG>tgT	p.W507C	PKD2_ENST00000508588.1_Intron	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GGAGTTTCTGGAATTGTCTGG	0.363																																																	0													150	146	147					4																	88967995		2203	4300	6503	SO:0001583	missense	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1521G>T	4.37:g.88967995G>T	ENSP00000237596:p.Trp507Cys		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.W507C	ENST00000237596.2	37	c.1521	CCDS3627.1	4	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909800	0.72983	.	.	ENSG00000118762	ENST00000237596	T	0.79940	-1.32	5.62	4.78	0.61160	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93293	0.6670	10	0.66056	D	0.02	-14.6466	14.4727	0.67526	0.0704:0.0:0.9296:0.0	.	507	Q13563	PKD2_HUMAN	C	507	ENSP00000237596:W507C	ENSP00000237596:W507C	W	+	3	0	PKD2	89187019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.823000	0.99369	1.377000	0.46286	0.591000	0.81541	TGG	PKD2	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	ENSG00000118762		0.363	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4		0	88	0	G	NM_000297		88967995	1			no_errors	ENST00000237596	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	88967995	G	T	88967995	3	4	91	1	0	0	0	0	1	0	0	0	12005	1183	41	3	1543	3	PKD2	4	88967995	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	911147	88967995	102186281	107	26180											
ABCG2	9429	genome.wustl.edu	37	chr4	89015789	89015789	+	Frame_Shift_Del	DEL	A	A	-																															ctgggcagaagttttgtcccAaaaattcattatgctgcaaa																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:89015789delA	ENST00000237612.3	-	15	2305	c.1760delT	c.(1759-1761)ttgfs	p.L587fs	ABCG2_ENST00000515655.1_Frame_Shift_Del_p.W584fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	587	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GTTTTGTCCCAAAAATTCATT	0.378																																																	0													114	101	106					4																	89015789		2203	4300	6503	SO:0001589	frameshift_variant	0			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"CD molecules", "ATP binding cassette transporters / subfamily G"	74	protein-coding gene	gene with protein product		603756	"ATP-binding cassette, sub-family G (WHITE), member 2"			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1760delT	4.37:g.89015789delA	ENSP00000237612:p.Leu587fs		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Frame_Shift_Del	DEL	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L587fs	ENST00000237612.3	37	c.1760	CCDS3628.1	4																																																																																			ABCG2	-	NULL	ENSG00000118777		0.378	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1		0	48	0	A	NM_004827		89015789	-1	tier1		no_errors	ENST00000237612	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	0.991	-	-	89015789	A	-	89015789	7	5	91	1	0	1	0	1	0	0	0	0	69	131	5	0	215	0	ABCG2	4	89015789	Frame_Shift_Del	DEL	A	TCGA-L5-A8NS-01A-12D-A37C-09	47794	89015789	102138487	108	26181											
UNC5C	8633	genome.wustl.edu	37	chr4	96140250	96140250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaacaacgactgggtCatctgaggggacagcttgga	10	9	12	10	1	3	1	1	1	2	0	4	4	3	3	1	4	3	1	1	4	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:96140250C>A	ENST00000453304.1	-	9	1863	c.1515G>T	c.(1513-1515)atG>atT	p.M505I	UNC5C_ENST00000506749.1_Missense_Mutation_p.M524I	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	505					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGTCATCTGAGGGG	0.522																																																	0													165	139	148					4																	96140250		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1515G>T	4.37:g.96140250C>A	ENSP00000406022:p.Met505Ile		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.M505I	ENST00000453304.1	37	c.1515	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	C	8.695	0.908446	0.17833	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.54675	0.87;0.56;0.56	5.45	4.53	0.55603	.	0.269830	0.45606	D	0.000341	T	0.31734	0.0806	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14090	-1.0485	10	0.51188	T	0.08	.	11.2471	0.49004	0.167:0.6396:0.1934:0.0	.	505;524;505	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	I	505;464;524;524	ENSP00000406022:M505I;ENSP00000426924:M524I;ENSP00000426153:M524I	ENSP00000328673:M464I	M	-	3	0	UNC5C	96359273	0.996000	0.38824	1.000000	0.80357	0.944000	0.59088	0.300000	0.19156	2.555000	0.86185	0.655000	0.94253	ATG	UNC5C	-	NULL	ENSG00000182168		0.522	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0	45	0	C	NM_003728		96140250	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.992	A	A	96140250	C	A	96140250	3	1	91	1	0	0	0	0	1	0	0	0	17042	826	29	3	1312	3	UNC5C	4	96140250	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	7124461	96140250	95014026	109	26182											
ANK2	287	genome.wustl.edu	37	chr4	114209582	114209582	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggcctgtcactatggAaatgtgaaaatggtcaactt	12	13	10	6	0	2	1	2	1	0	0	2	2	2	2	1	3	1	0	1	3	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:114209582A>G	ENST00000357077.4	+	20	2270	c.2217A>G	c.(2215-2217)ggA>ggG	p.G739G	ANK2_ENST00000394537.3_Silent_p.G739G|ANK2_ENST00000506722.1_Silent_p.G718G|ANK2_ENST00000264366.6_Silent_p.G739G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	739					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCACTATGGAAATGTGAAAA	0.323																																																	0													107	105	105					4																	114209582		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2217A>G	4.37:g.114209582A>G			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G739	ENST00000357077.4	37	c.2217	CCDS3702.1	4																																																																																			ANK2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.323	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	49	0	A	NM_001148		114209582	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	51.85	13	14	SNP	1.000	G	G	114209582	A	G	114209582	2	3	91	1	0	0	0	0	0	0	0	1	621	233	9	4		4	ANK2	4	114209582	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	18069332	114209582	76944694	110	26183											
ANK2	287	genome.wustl.edu	37	chr4	114279811	114279811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatgaagcaaaaccaaagtCcaaactccctgtcaaagtac	17	6	7	11	0	1	1	1	1	0	0	3	2	3	2	3	1	4	2	3	1	7	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:114279811C>A	ENST00000357077.4	+	38	10090	c.10037C>A	c.(10036-10038)tCc>tAc	p.S3346Y	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3313Y	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3346					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAACCAAAGTCCAAACTCCCT	0.478																																																	0													125	126	126					4																	114279811		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10037C>A	4.37:g.114279811C>A	ENSP00000349588:p.Ser3346Tyr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.S3346Y	ENST00000357077.4	37	c.10037	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439882	0.63067	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.97772	-1.01;-0.99;-4.53	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000056	D	0.98429	0.9477	M	0.62723	1.935	0.80722	D	1	D;P	0.89917	1.0;0.867	D;P	0.87578	0.998;0.564	D	0.99041	1.0824	10	0.51188	T	0.08	.	19.3831	0.94545	0.0:1.0:0.0:0.0	.	3313;3346	Q01484;Q01484-4	ANK2_HUMAN;.	Y	3346;3313;356	ENSP00000349588:S3346Y;ENSP00000264366:S3313Y;ENSP00000422498:S356Y	ENSP00000264366:S3313Y	S	+	2	0	ANK2	114499260	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.735000	0.68587	2.572000	0.86782	0.650000	0.86243	TCC	ANK2	-	NULL	ENSG00000145362		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	26	0	C	NM_001148		114279811	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	A	A	114279811	C	A	114279811	3	1	91	1	0	0	0	0	1	0	0	0	621	855	30	3	10252	3	ANK2	4	114279811	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	70229	114279811	76874465	111	26184											
TNIP3	79931	genome.wustl.edu	37	chr4	122085277	122085277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgccctgtacaaaatgtgCcatggaagctgtttttcctg	8	14	10	9	0	0	0	0	0	0	0	1	1	1	1	3	1	4	3	3	1	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:122085277C>T	ENST00000509841.1	-	4	313	c.235G>A	c.(235-237)Gca>Aca	p.A79T	TNIP3_ENST00000454328.1_Missense_Mutation_p.A2T|TNIP3_ENST00000057513.3_Missense_Mutation_p.A2T|TNIP3_ENST00000507879.1_Missense_Mutation_p.A72T	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						ACAAAATGTGCCATGGAAGCT	0.388																																																	0													110	104	106					4																	122085277		2203	4300	6503	SO:0001583	missense	0			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.235G>A	4.37:g.122085277C>T	ENSP00000426613:p.Ala79Thr			Missense_Mutation	SNP	NULL	p.A2T	ENST00000509841.1	37	c.4	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596442	0.66332	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.60424	0.74;0.74;0.2;0.19	4.5	2.71	0.32032	.	0.176081	0.27567	N	0.018781	T	0.48750	0.1517	L	0.57536	1.79	0.09310	N	1	B;B;B	0.33318	0.192;0.408;0.408	B;B;B	0.31751	0.082;0.135;0.077	T	0.48603	-0.9021	10	0.87932	D	0	-4.2012	6.5541	0.22450	0.0:0.7133:0.1842:0.1025	.	72;2;2	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	T	2;2;72;79	ENSP00000057513:A2T;ENSP00000411817:A2T;ENSP00000427106:A72T;ENSP00000426613:A79T	ENSP00000057513:A2T	A	-	1	0	TNIP3	122304727	0.003000	0.15002	0.088000	0.20740	0.334000	0.28698	0.274000	0.18680	0.564000	0.29238	0.650000	0.86243	GCA	TNIP3	-	NULL	ENSG00000050730		0.388	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4		0	32	0	C	NM_024873		122085277	-1			no_errors	ENST00000057513	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.040	T	T	122085277	C	T	122085277	3	4	91	1	0	0	0	0	1	0	0	0	16363	739	26	3	1017	3	TNIP3	4	122085277	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	7805466	122085277	69068999	112	26185											
BBS7	55212	genome.wustl.edu	37	chr4	122766832	122766832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgcaataccttatactGcaaatgttccaactcattcc	11	14	3	13	0	1	0	1	0	0	0	4	0	4	0	4	0	5	3	4	0	6	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:122766832G>T	ENST00000264499.4	-	11	1240	c.1057C>A	c.(1057-1059)Cag>Aag	p.Q353K	BBS7_ENST00000506636.1_Missense_Mutation_p.Q353K	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	353					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACCTTATACTGCAAATGTTCC	0.318									Bardet-Biedl syndrome																																								0													112	108	109					4																	122766832		2203	4297	6500	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.1057C>A	4.37:g.122766832G>T	ENSP00000264499:p.Gln353Lys		Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	p.Q353K	ENST00000264499.4	37	c.1057	CCDS3724.1	4	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556568	0.65425	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	T;T	0.75477	-0.94;-0.94	5.69	5.69	0.88448	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	L	0.46670	1.46	0.80722	D	1	B	0.12013	0.005	B	0.15870	0.014	T	0.64198	-0.6464	10	0.35671	T	0.21	-6.2521	19.8113	0.96547	0.0:0.0:1.0:0.0	.	353	Q8IWZ6	BBS7_HUMAN	K	353	ENSP00000264499:Q353K;ENSP00000423626:Q353K	ENSP00000264499:Q353K	Q	-	1	0	BBS7	122986282	1.000000	0.71417	0.987000	0.45799	0.902000	0.53008	8.775000	0.91772	2.690000	0.91761	0.655000	0.94253	CAG	BBS7	-	superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot	ENSG00000138686		0.318	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS7	HGNC	protein_coding	OTTHUMT00000256716.1		0	44	0	G			122766832	-1			no_errors	ENST00000264499	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T	T	122766832	G	T	122766832	3	4	91	1	0	0	0	0	1	0	0	0	1342	1328	46	3	1131	3	BBS7	4	122766832	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	681555	122766832	68387444	113	26186											
PHF17	79960	genome.wustl.edu	37	chr4	129783293	129783293	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcaccccaaagaaagaTgaagaggacaatctagccaa	18	5	8	10	0	2	5	1	2	1	3	2	6	2	6	3	1	1	0	3	1	6	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:129783293T>G	ENST00000226319.6	+	9	1696	c.1416T>G	c.(1414-1416)gaT>gaG	p.D472E	PHF17_ENST00000511647.1_Missense_Mutation_p.D472E|PHF17_ENST00000452328.2_Missense_Mutation_p.D460E|PHF17_ENST00000512960.1_Missense_Mutation_p.D472E|PHF17_ENST00000413543.2_Missense_Mutation_p.D472E	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAAAGAAAGATGAAGAGGACA	0.517																																																	0													72	75	74					4																	129783293		2203	4300	6503	SO:0001583	missense	0																														ENST00000226319.6:c.1416T>G	4.37:g.129783293T>G	ENSP00000226319:p.Asp472Glu			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.D472E	ENST00000226319.6	37	c.1416	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	T	10.23	1.293052	0.23564	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.39997	1.15;1.05;1.16;1.15;1.05	5.22	0.296	0.15757	.	0.047154	0.85682	D	0.000000	T	0.36220	0.0959	L	0.43757	1.38	0.47905	D	0.99954	P;D;B	0.54207	0.668;0.965;0.007	B;P;B	0.49708	0.283;0.62;0.044	T	0.07908	-1.0748	9	.	.	.	.	5.8645	0.18767	0.0:0.3038:0.1465:0.5497	.	460;472;472	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	E	472;472;460;472;472;472	ENSP00000226319:D472E;ENSP00000423737:D472E;ENSP00000388015:D460E;ENSP00000425730:D472E;ENSP00000404211:D472E	.	D	+	3	2	PHF17	130002743	0.003000	0.15002	0.992000	0.48379	0.222000	0.24845	-1.413000	0.02473	-0.158000	0.11040	-1.125000	0.01998	GAT	PHF17	-	NULL	ENSG00000077684		0.517	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	-	0	37	0	T			129783293	1	tier1	-	no_errors	ENST00000226319	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.981	G	G	129783293	T	G	129783293	3	3	91	1	0	0	0	0	1	0	0	0	11867	1461	51	4	1446	4	PHF17	4	129783293	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	7016461	129783293	61370983	114	26187											
SH3D19	152503	genome.wustl.edu	37	chr4	152086755	152086755	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttacattttcctggtttgGctggaattcgaattacagtg	8	16	10	7	1	0	0	0	0	0	0	2	2	1	1	1	3	2	3	1	3	4	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:152086755G>T	ENST00000409252.2	-	7	1495	c.788C>A	c.(787-789)gCc>gAc	p.A263D	SH3D19_ENST00000424281.1_Intron|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000409598.4_Missense_Mutation_p.A263D|SH3D19_ENST00000514152.1_Missense_Mutation_p.A263D|SH3D19_ENST00000304527.4_Missense_Mutation_p.A263D|SH3D19_ENST00000455740.1_Missense_Mutation_p.A263D			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	263	Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCTGGTTTGGCTGGAATTCG	0.403																																																	0													221	196	204					4																	152086755		2203	4300	6503	SO:0001583	missense	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"EEN binding protein"	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.788C>A	4.37:g.152086755G>T	ENSP00000386848:p.Ala263Asp		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.A263D	ENST00000409252.2	37	c.788	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609744	0.66558	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000409252;ENST00000514152	T;T;T;T;T	0.74947	-0.89;-0.14;-0.89;-0.14;-0.89	6.02	6.02	0.97574	.	0.909002	0.09156	N	0.840912	D	0.84215	0.5423	M	0.62723	1.935	0.80722	D	1	D;D;P	0.63046	0.986;0.992;0.905	P;P;B	0.59948	0.738;0.866;0.439	T	0.79322	-0.1851	10	0.59425	D	0.04	-9.6655	15.9588	0.79910	0.0:0.134:0.866:0.0	.	263;263;41	Q5HYK7;Q5HYK7-2;B3KY23	SH319_HUMAN;.;.	D	263	ENSP00000387030:A263D;ENSP00000302913:A263D;ENSP00000416708:A263D;ENSP00000386848:A263D;ENSP00000423449:A263D	ENSP00000302913:A263D	A	-	2	0	SH3D19	152306205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.435000	0.59941	2.865000	0.98341	0.655000	0.94253	GCC	SH3D19	-	NULL	ENSG00000109686		0.403	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	-	0	162	0	G	NM_001009555		152086755	-1	tier1	-	no_errors	ENST00000304527	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	152086755	G	T	152086755	3	4	91	1	0	0	0	0	1	0	0	0	14294	1203	42	3	1640	3	SH3D19	4	152086755	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	22303462	152086755	39067521	115	26188											
ODZ3	55714	genome.wustl.edu	37	chr4	183601454	183601454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggagaatgcgtttctGgaacttgccattgttttcca	10	14	10	7	1	1	1	0	0	1	1	2	4	2	2	2	2	3	2	2	2	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:183601454G>A	ENST00000511685.1	+	9	1714	c.1591G>A	c.(1591-1593)Gga>Aga	p.G531R	TENM3_ENST00000406950.2_Missense_Mutation_p.G531R			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	531	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGCGTTTCTGGAACTTGCCA	0.418																																																	0													148	135	139					4																	183601454		1861	4104	5965	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1591G>A	4.37:g.183601454G>A	ENSP00000424226:p.Gly531Arg		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.G531R	ENST00000511685.1	37	c.1591	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590427	0.86851	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.25749	1.78;1.78	5.37	5.37	0.77165	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.62245	0.2412	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70447	-0.4869	9	0.87932	D	0	.	19.3071	0.94167	0.0:0.0:1.0:0.0	.	531	Q9P273	TEN3_HUMAN	R	531	ENSP00000424226:G531R;ENSP00000385276:G531R	ENSP00000385276:G531R	G	+	1	0	ODZ3	183838448	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.263000	0.95617	2.793000	0.96121	0.563000	0.77884	GGA	TENM3	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000218336		0.418	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	62	0	G			183601454	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	A	A	183601454	G	A	183601454	3	1	91	1	0	0	0	0	1	0	0	0	10875	1349	47	3	1621	3	ODZ3	4	183601454	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	31514699	183601454	7552822	116	26189											
CDKN2AIP	55602	genome.wustl.edu	37	chr4	184367434	184367434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctctggcatctccagtcaGaatagctctacaagtgatgg	11	10	10	10	0	4	2	1	1	3	1	5	2	4	2	1	2	3	3	1	2	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:184367434G>C	ENST00000504169.1	+	3	804	c.597G>C	c.(595-597)caG>caC	p.Q199H	CDKN2AIP_ENST00000506835.1_3'UTR|CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	199	Ser-rich.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TCTCCAGTCAGAATAGCTCTA	0.507																																																	0													92	91	91					4																	184367434		2203	4300	6503	SO:0001583	missense	0			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"collaborates/cooperates with ARF (alternate reading frame) protein"	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.597G>C	4.37:g.184367434G>C	ENSP00000427108:p.Gln199His		Q8TBM5|Q9NYH0	Missense_Mutation	SNP	pfam_DUF3469,pfscan_dsRNA-bd_dom	p.Q199H	ENST00000504169.1	37	c.597	CCDS34110.1	4	.	.	.	.	.	.	.	.	.	.	G	7.764	0.706054	0.15172	.	.	ENSG00000168564	ENST00000504169	.	.	.	5.44	4.6	0.57074	.	0.370774	0.23405	N	0.048536	T	0.44603	0.1301	L	0.27053	0.805	0.80722	D	1	P	0.42039	0.769	P	0.44477	0.451	T	0.41106	-0.9527	9	0.45353	T	0.12	-1.4171	12.0932	0.53739	0.0827:0.0:0.9173:0.0	.	199	Q9NXV6	CARF_HUMAN	H	199	.	ENSP00000427108:Q199H	Q	+	3	2	CDKN2AIP	184604428	0.366000	0.25014	0.396000	0.26296	0.606000	0.37113	1.183000	0.32041	1.521000	0.48983	0.655000	0.94253	CAG	CDKN2AIP	-	NULL	ENSG00000168564		0.507	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	-	0	49	0	G	NM_017632		184367434	1	tier1	-	no_errors	ENST00000504169	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.958	C	C	184367434	G	C	184367434	3	2	91	1	0	0	0	0	1	0	0	0	3169	933	33	5	607	5	CDKN2AIP	4	184367434	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	765980	184367434	6786842	117	26190											
ENPP6	133121	genome.wustl.edu	37	chr4	185012359	185012359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggaagagaagaatcagtgCcagggcacagtggctgggcc	12	4	16	9	0	1	2	1	0	0	2	1	4	1	3	2	4	1	2	2	4	3	0	rs146403093		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr4:185012359C>T	ENST00000296741.2	-	8	1435	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	432					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGAATCAGTGCCAGGGCACAG	0.552																																																	0								C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	68	72	71		1294	3.2	0.8	4	dbSNP_134	71	0,8600		0,0,4300	no	missense	ENPP6	NM_153343.3	58	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	432/441	185012359	5,13001	2203	4300	6503	SO:0001583	missense	0			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1294G>A	4.37:g.185012359C>T	ENSP00000296741:p.Ala432Thr		Q4W5Q1|Q96M57	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.A432T	ENST00000296741.2	37	c.1294	CCDS3834.1	4	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598520	0.46318	0.001135	0.0	ENSG00000164303	ENST00000296741	T	0.75477	-0.94	5.98	3.2	0.36748	.	3.750420	0.01065	N	0.004711	T	0.64768	0.2628	L	0.28274	0.84	0.21499	N	0.999668	B	0.14012	0.009	B	0.09377	0.004	T	0.47560	-0.9108	10	0.25751	T	0.34	-13.8217	8.5822	0.33634	0.0:0.6318:0.236:0.1321	.	432	Q6UWR7	ENPP6_HUMAN	T	432	ENSP00000296741:A432T	ENSP00000296741:A432T	A	-	1	0	ENPP6	185249353	0.889000	0.30405	0.828000	0.32881	0.005000	0.04900	0.617000	0.24359	0.842000	0.35045	-0.229000	0.12294	GCA	ENPP6	-	NULL	ENSG00000164303		0.552	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1		0	33	0	C	NM_153343		185012359	-1			no_errors	ENST00000296741	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.462	T	T	185012359	C	T	185012359	3	4	91	1	0	0	0	0	1	0	0	0	5150	739	26	3	32	3	ENPP6	4	185012359	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	644925	185012359	6141917	118	26191											
TARS	6897	genome.wustl.edu	37	chr5	33445442	33445442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatttagattggtgctggtGaagagaagcaaaaggaagga	15	10	14	2	0	0	3	0	1	0	2	0	6	0	5	0	4	2	2	0	4	7	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:33445442G>A	ENST00000265112.3	+	2	381	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	TARS_ENST00000541634.1_5'UTR|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000455217.2_Missense_Mutation_p.E24K|TARS_ENST00000502553.1_Missense_Mutation_p.E24K	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	24					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGGTGCTGGTGAAGAGAAGCA	0.393																																																	0													91	87	88					5																	33445442		2203	4300	6503	SO:0001583	missense	0			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"Aminoacyl tRNA synthetases / Class II"	11572	protein-coding gene	gene with protein product	"threonine tRNA ligase 1, cytoplasmic"	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.70G>A	5.37:g.33445442G>A	ENSP00000265112:p.Glu24Lys		A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	p.E24K	ENST00000265112.3	37	c.70	CCDS3899.1	5	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273401	0.40194	.	.	ENSG00000113407	ENST00000502553;ENST00000514259;ENST00000265112;ENST00000455217	T;T;T;T	0.44083	0.93;0.93;0.93;0.94	5.16	2.32	0.28847	.	0.726724	0.14085	N	0.342403	T	0.27349	0.0671	L	0.34521	1.04	0.26521	N	0.97444	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.28073	-1.0055	10	0.08837	T	0.75	-14.0395	9.3748	0.38277	0.0761:0.2733:0.6506:0.0	.	24;24	B4DEG8;P26639	.;SYTC_HUMAN	K	24	ENSP00000424387:E24K;ENSP00000422130:E24K;ENSP00000265112:E24K;ENSP00000387710:E24K	ENSP00000265112:E24K	E	+	1	0	TARS	33481199	0.996000	0.38824	0.008000	0.14137	0.444000	0.32077	2.578000	0.46051	0.244000	0.21351	0.563000	0.77884	GAA	TARS	-	NULL	ENSG00000113407		0.393	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS	HGNC	protein_coding	OTTHUMT00000207367.1	-	0	48	0	G	NM_152295		33445442	1	tier1	-	no_errors	ENST00000265112	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.183	A	A	33445442	G	A	33445442	3	1	91	1	0	0	0	0	1	0	0	0	15606	1291	45	3	76	3	TARS	5	33445442	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		33445442	147469818	119	26192											
TTC23L	153657	genome.wustl.edu	37	chr5	34864642	34864642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaattacaagtctctgagAacgacctaacacttgctttg	12	12	8	9	1	1	2	0	2	1	1	2	4	1	2	1	0	4	1	1	0	5	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:34864642A>G	ENST00000505624.1	+	6	740	c.637A>G	c.(637-639)Aac>Gac	p.N213D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	213										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AGTCTCTGAGAACGACCTAAC	0.413																																																	0													182	177	179					5																	34864642		1847	4096	5943	SO:0001583	missense	0				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.637A>G	5.37:g.34864642A>G	ENSP00000422188:p.Asn213Asp		Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	NULL	p.N213D	ENST00000505624.1	37	c.637	CCDS54840.1	5	.	.	.	.	.	.	.	.	.	.	A	12.35	1.910872	0.33721	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.73575	-0.76	5.6	5.6	0.85130	.	0.331368	0.31082	N	0.008296	T	0.57533	0.2060	N	0.08118	0	0.23150	N	0.998214	B;B;B	0.23990	0.0;0.095;0.0	B;B;B	0.24155	0.0;0.051;0.0	T	0.54873	-0.8228	10	0.49607	T	0.09	-5.9084	14.7791	0.69751	1.0:0.0:0.0:0.0	.	213;144;213	Q6PF05-2;B4DEX1;Q6PF05	.;.;TT23L_HUMAN	D	213	ENSP00000422188:N213D	ENSP00000425242:N213D	N	+	1	0	TTC23L	34900399	1.000000	0.71417	1.000000	0.80357	0.371000	0.29859	5.189000	0.65098	2.136000	0.66102	0.460000	0.39030	AAC	TTC23L	-	NULL	ENSG00000205838		0.413	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23L	HGNC	protein_coding	OTTHUMT00000366819.1	-	0	51	0	A	NM_144725		34864642	1	tier1	-	no_errors	ENST00000505624	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G	G	34864642	A	G	34864642	3	3	91	1	0	0	0	0	1	0	0	0	16740	246	9	4	655	4	TTC23L	5	34864642	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	1419200	34864642	146050618	120	26193											
FBXO4	26272	genome.wustl.edu	37	chr5	41927260	41927260	+	Frame_Shift_Del	DEL	C	C	-																															ggatcttccttcttggtcttCtgttgactggaagtctcttc																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:41927260delC	ENST00000281623.3	+	2	391	c.335delC	c.(334-336)tctfs	p.S112fs	FBXO4_ENST00000296812.2_Frame_Shift_Del_p.S112fs|FBXO4_ENST00000509134.1_Frame_Shift_Del_p.S112fs	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	112					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTTGGTCTTCTGTTGACTGG	0.383																																																	0													166	165	165					5																	41927260		2203	4300	6503	SO:0001589	frameshift_variant	0			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"F-boxes /  "other""	13583	protein-coding gene	gene with protein product		609090	"F-box only protein 4"			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.335delC	5.37:g.41927260delC	ENSP00000281623:p.Ser112fs		Q68CU8|Q86VT8|Q9UK98	Frame_Shift_Del	DEL	pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.S112fs	ENST00000281623.3	37	c.335	CCDS3938.1	5																																																																																			FBXO4	-	superfamily_F-box_dom	ENSG00000151876		0.383	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO4	HGNC	protein_coding	OTTHUMT00000211614.1		0	44	0	C			41927260	1	tier1		no_errors	ENST00000281623	ensembl	human	known	74_37	frame_shift_del	35.71	18	10	DEL	1.000	-	-	41927260	C	-	41927260	7	5	91	1	0	1	0	1	0	0	0	0	5770	913	32	0	341	0	FBXO4	5	41927260	Frame_Shift_Del	DEL	C	TCGA-L5-A8NS-01A-12D-A37C-09	7062618	41927260	138988000	121	26194											
FST	10468	genome.wustl.edu	37	chr5	52779494	52779494	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcaatgaatgtgcactcctAaaggcaagatgtaaagagca	16	7	10	8	1	0	3	0	1	0	2	1	3	1	3	1	1	2	5	1	1	7	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:52779494A>G	ENST00000256759.3	+	3	821	c.438A>G	c.(436-438)ctA>ctG	p.L146L	FST_ENST00000396947.3_Silent_p.L146L	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	146	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GTGCACTCCTAAAGGCAAGAT	0.542																																																	0													70	65	67					5																	52779494		2203	4300	6503	SO:0001819	synonymous_variant	0			M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.438A>G	5.37:g.52779494A>G			B5BU94|Q9BTH0	Silent	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom	p.L146	ENST00000256759.3	37	c.438	CCDS3959.1	5																																																																																			FST	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000134363		0.542	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FST	HGNC	protein_coding	OTTHUMT00000253906.1		0	35	0	A	NM_013409		52779494	1			no_errors	ENST00000256759	ensembl	human	known	74_37	silent	10.53	17	2	SNP	1.000	G	G	52779494	A	G	52779494	2	3	91	1	0	0	0	0	0	0	0	1	6100	349	13	4		4	FST	5	52779494	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	10852234	52779494	128135766	122	26195											
C5orf43	643155	genome.wustl.edu	37	chr5	60455836	60455836	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtttttgcttcttcttttGctccttctccctggcctcaa	2	19	6	14	1	4	0	1	0	3	0	6	0	5	0	3	1	2	3	3	1	1	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:60455836G>A	ENST00000339020.3	-	3	588	c.163C>T	c.(163-165)Caa>Taa	p.Q55*	SMIM15_ENST00000507416.1_Nonsense_Mutation_p.Q55*|CTC-436P18.1_ENST00000506902.1_RNA	NM_001048249.3	NP_001041714.1	Q7Z3B0	SIM15_HUMAN	small integral membrane protein 15	55						integral component of membrane (GO:0016021)											TTCTTCTTTTGCTCCTTCTCC	0.423																																																	0													190	173	179					5																	60455836		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34165.1	5q12	2013-06-21	2012-12-03	2012-12-03	ENSG00000188725	ENSG00000188725			33861	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 43"	C5orf43			Standard	NM_001048249		Approved	DKFZP686E2158	uc010iwm.1	Q7Z3B0	OTTHUMG00000162241	ENST00000339020.3:c.163C>T	5.37:g.60455836G>A	ENSP00000339324:p.Gln55*		B9EJC4	Nonsense_Mutation	SNP	NULL	p.Q55*	ENST00000339020.3	37	c.163	CCDS34165.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.178243	0.98118	.	.	ENSG00000188725	ENST00000339020;ENST00000507416	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-14.2147	18.7716	0.91894	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000339324:Q55X	Q	-	1	0	C5orf43	60491593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.313000	0.96297	2.447000	0.82792	0.650000	0.86243	CAA	SMIM15	-	NULL	ENSG00000188725		0.423	SMIM15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SMIM15	HGNC	protein_coding	OTTHUMT00000368078.1	-	0	55	0	G	NM_001048249		60455836	-1	tier1	-	no_errors	ENST00000339020	ensembl	human	known	74_37	nonsense	16.00	21	4	SNP	1.000	A	A	60455836	G	A	60455836	4	1	91	1	0	0	0	0	0	1	0	0	2309	1328	46	3	65	3	C5orf43	5	60455836	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7676342	60455836	120459424	123	26196											
PPWD1	23398	genome.wustl.edu	37	chr5	64875276	64875276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcggattttaggcaaacaaGaaaatattagagtgatgcaa	17	10	10	4	1	0	3	0	1	0	2	0	4	0	4	0	2	3	2	0	2	8	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:64875276G>C	ENST00000261308.5	+	7	1258	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	PPWD1_ENST00000538977.1_Missense_Mutation_p.E240Q|PPWD1_ENST00000535264.1_Missense_Mutation_p.E366Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	396					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AGGCAAACAAGAAAATATTAG	0.343																																																	0													90	94	93					5																	64875276		2203	4300	6503	SO:0001583	missense	0			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1186G>C	5.37:g.64875276G>C	ENSP00000261308:p.Glu396Gln		B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E396Q	ENST00000261308.5	37	c.1186	CCDS3985.1	5	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992413	0.93167	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.70986	-0.53;-0.35;1.41	5.58	5.58	0.84498	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.103338	0.64402	D	0.000004	D	0.87220	0.6123	M	0.91972	3.26	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.63703	0.917;0.827	D	0.89427	0.3714	10	0.66056	D	0.02	.	19.5704	0.95409	0.0:0.0:1.0:0.0	.	366;396	F5H7P7;Q96BP3	.;PPWD1_HUMAN	Q	396;366;240	ENSP00000261308:E396Q;ENSP00000442371:E366Q;ENSP00000444496:E240Q	ENSP00000261308:E396Q	E	+	1	0	PPWD1	64911032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.402000	0.97298	2.624000	0.88883	0.655000	0.94253	GAA	PPWD1	-	superfamily_WD40_repeat_dom	ENSG00000113593		0.343	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	HGNC	protein_coding	OTTHUMT00000253970.2		0	54	0	G	NM_015342		64875276	1			no_errors	ENST00000261308	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	C	C	64875276	G	C	64875276	3	2	91	1	0	0	0	0	1	0	0	0	12456	943	33	5	1212	5	PPWD1	5	64875276	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4419440	64875276	116039984	124	26197											
C5orf44	80006	genome.wustl.edu	37	chr5	64946640	64946640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatctttctgtttcagcttGgtatgtgctgtgagttatac	7	18	9	7	0	3	1	1	1	2	0	3	1	3	1	0	1	3	5	0	1	3	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:64946640G>C	ENST00000399438.3	+	6	777	c.432G>C	c.(430-432)ttG>ttC	p.L144F	TRAPPC13_ENST00000545191.1_Missense_Mutation_p.L144F|TRAPPC13_ENST00000505553.1_Missense_Mutation_p.L144F|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.L144F|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.L144F	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	144																	GTTTCAGCTTGGTATGTGCTG	0.294																																																	0													70	67	68					5																	64946640		1798	4067	5865	SO:0001583	missense	0				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"Trs65-related"		"chromosome 5 open reading frame 44"	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.432G>C	5.37:g.64946640G>C	ENSP00000382367:p.Leu144Phe		Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	pfam_DUF974	p.L144F	ENST00000399438.3	37	c.432	CCDS47222.1	5	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659551	0.67586	.	.	ENSG00000113597	ENST00000399438;ENST00000438419;ENST00000231526;ENST00000505553;ENST00000545191	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	H	0.94345	3.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.997;0.997;0.997;0.998	D	0.85815	0.1382	9	0.87932	D	0	-4.0845	8.836	0.35113	0.1601:0.0:0.8399:0.0	.	144;144;144;144	A5PLN9-4;A5PLN9-2;A5PLN9-5;A5PLN9	.;.;.;CE044_HUMAN	F	144	.	ENSP00000231526:L144F	L	+	3	2	C5orf44	64982396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.880000	0.48530	2.680000	0.91292	0.591000	0.81541	TTG	TRAPPC13	-	pfam_DUF974	ENSG00000113597		0.294	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRAPPC13	HGNC	protein_coding	OTTHUMT00000370113.1	-	0	28	0	G	NM_024941		64946640	1	tier1	-	no_errors	ENST00000545191	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	C	C	64946640	G	C	64946640	3	2	91	1	0	0	0	0	1	0	0	0	2310	1339	47	5	454	5	C5orf44	5	64946640	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	71364	64946640	115968620	125	26198											
BDP1	55814	genome.wustl.edu	37	chr5	70782418	70782418	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaaatcacagtttaaagGagaagaaatccaccaaacca	21	7	5	8	0	1	2	1	0	0	2	2	3	2	2	3	1	1	1	3	1	8	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:70782418G>T	ENST00000358731.4	+	9	1440	c.1177G>T	c.(1177-1179)Gag>Tag	p.E393*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	393	Required for phosphorylation by CSNK2A1.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGTTTAAAGGAGAAGAAATC	0.323																																																	0													63	60	61					5																	70782418		1796	4073	5869	SO:0001587	stop_gained	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.1177G>T	5.37:g.70782418G>T	ENSP00000351575:p.Glu393*		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Nonsense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E393*	ENST00000358731.4	37	c.1177	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.401463	0.98796	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	.	.	.	5.54	4.67	0.58626	.	0.284251	0.31279	N	0.007928	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	11.3976	0.49851	0.0852:0.0:0.9148:0.0	.	.	.	.	X	393	.	ENSP00000351575:E393X	E	+	1	0	BDP1	70818174	1.000000	0.71417	0.995000	0.50966	0.878000	0.50629	3.857000	0.55972	1.342000	0.45619	0.467000	0.42956	GAG	BDP1	-	NULL	ENSG00000145734		0.323	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2		0	60	0	G	NM_018429		70782418	1			no_errors	ENST00000358731	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	1.000	T	T	70782418	G	T	70782418	4	4	91	1	0	0	0	0	0	1	0	0	1396	1175	41	3	1211	3	BDP1	5	70782418	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5835778	70782418	110132842	126	26199											
CMYA5	202333	genome.wustl.edu	37	chr5	79084824	79084824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatcaaaggactccagctGaaagttaacctccaacccaa	16	6	7	12	0	1	1	1	1	0	0	3	3	3	3	4	2	3	2	4	2	6	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:79084824G>A	ENST00000446378.2	+	10	11617	c.11586G>A	c.(11584-11586)ctG>ctA	p.L3862L	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3862	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GACTCCAGCTGAAAGTTAACC	0.373																																																	0													142	137	138					5																	79084824		1862	4105	5967	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11586G>A	5.37:g.79084824G>A			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.L3862	ENST00000446378.2	37	c.11586	CCDS47238.1	5																																																																																			CMYA5	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164309		0.373	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	46	0	G	NM_153610		79084824	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	silent	42.86	4	3	SNP	1.000	A	A	79084824	G	A	79084824	2	1	91	1	0	0	0	0	0	0	0	1	3597	1277	45	3		3	CMYA5	5	79084824	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8302406	79084824	101830436	127	26200											
GPR98	84059	genome.wustl.edu	37	chr5	89989976	89989976	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtttctggatgacatCatggatcagcccagctgtca	9	11	10	11	0	4	1	3	1	1	0	4	3	4	3	2	2	2	2	2	2	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:89989976C>A	ENST00000405460.2	+	33	7499	c.7403C>A	c.(7402-7404)tCa>tAa	p.S2468*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2468	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGATGACATCATGGATCAGC	0.488																																																	0													67	66	66					5																	89989976		1929	4129	6058	SO:0001587	stop_gained	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7403C>A	5.37:g.89989976C>A	ENSP00000384582:p.Ser2468*		O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S2468*	ENST00000405460.2	37	c.7403	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.587485|16.587485	0.99867|0.99867	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|.	.|.	.|.	5.92|5.92	5.05|5.05	0.67936|0.67936	.|.	.|0.250493	.|0.41938	.|D	.|0.000785	T|.	0.43411|.	0.1246|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33929|.	-0.9849|.	4|.	.|0.02654	.|T	.|1	.|.	15.3899|15.3899	0.74735|0.74735	0.0:0.933:0.0:0.067|0.0:0.933:0.0:0.067	.|.	.|.	.|.	.|.	N|X	34|2468	.|.	.|ENSP00000296619:S2468X	H|S	+|+	1|2	0|0	GPR98|GPR98	90025732|90025732	0.983000|0.983000	0.35010|0.35010	0.955000|0.955000	0.39395|0.39395	0.952000|0.952000	0.60782|0.60782	3.884000|3.884000	0.56175|0.56175	1.501000|1.501000	0.48654|0.48654	0.655000|0.655000	0.94253|0.94253	CAT|TCA	GPR98	-	NULL	ENSG00000164199		0.488	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	-	0	66	0	C	NM_032119		89989976	1	tier1	-	no_errors	ENST00000405460	ensembl	human	known	74_37	nonsense	29.17	17	7	SNP	0.711	A	A	89989976	C	A	89989976	4	1	91	1	0	0	0	0	0	1	0	0	6748	838	29	3	7533	3	GPR98	5	89989976	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	10905152	89989976	90925284	128	26201											
RIOK2	55781	genome.wustl.edu	37	chr5	96514853	96514853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctggctatagaagcaatCaaactgccgggaacaatttc	14	8	10	9	1	1	1	1	0	0	1	2	2	1	2	1	3	4	3	1	3	7	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:96514853C>G	ENST00000283109.3	-	2	179	c.111G>C	c.(109-111)ttG>ttC	p.L37F	RIOK2_ENST00000508447.1_Missense_Mutation_p.L37F|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	37							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGAAGCAATCAAACTGCCGG	0.353																																																	0													83	79	81					5																	96514853		2203	4300	6503	SO:0001583	missense	0			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"RIO kinase 2 (yeast)"				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.111G>C	5.37:g.96514853C>G	ENSP00000283109:p.Leu37Phe		D6RDI3|Q9NUT0	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase	p.L37F	ENST00000283109.3	37	c.111	CCDS4089.1	5	.	.	.	.	.	.	.	.	.	.	c	13.50	2.257104	0.39896	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.07114	3.3;3.22	5.72	2.02	0.26589	Winged helix-turn-helix transcription repressor DNA-binding (1);RIO2 kinase, winged helix, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31765	0.0807	M	0.93062	3.375	0.80722	D	1	D;D	0.69078	0.993;0.997	D;D	0.70016	0.956;0.967	T	0.09271	-1.0682	10	0.87932	D	0	3.4668	8.6589	0.34079	0.0:0.5666:0.0:0.4334	.	37;37	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	F	37	ENSP00000283109:L37F;ENSP00000420932:L37F	ENSP00000283109:L37F	L	-	3	2	RIOK2	96540609	1.000000	0.71417	0.996000	0.52242	0.238000	0.25445	0.776000	0.26704	0.372000	0.24591	-0.142000	0.14014	TTG	RIOK2	-	pfam_RIO2_kinase_winged_hlx_N	ENSG00000058729		0.353	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	HGNC	protein_coding	OTTHUMT00000250628.1	-	0	42	0	C	NM_018343		96514853	-1	tier1	-	no_errors	ENST00000283109	ensembl	human	known	74_37	missense	46.15	7	6	SNP	0.895	G	G	96514853	C	G	96514853	3	3	91	1	0	0	0	0	1	0	0	0	13423	825	29	5	1611	5	RIOK2	5	96514853	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6524877	96514853	84400407	129	26202											
SLC22A5	6584	genome.wustl.edu	37	chr5	131721070	131721071	+	Frame_Shift_Del	DEL	GT	GT	-																															taatattctctacgttaggaGtgtgcatattttatgcattt																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:131721070_131721071delGT	ENST00000245407.3	+	4	924_925	c.703_704delGT	c.(703-705)gtgfs	p.V235fs	SLC22A5_ENST00000435065.2_Frame_Shift_Del_p.V259fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	235					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	TACGTTAGGAGTGTGCATATTT	0.48											OREG0016766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"Solute carriers"	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.703_704delGT	5.37:g.131721072_131721073delGT	ENSP00000245407:p.Val235fs	1589	A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Del	DEL	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.C260fs	ENST00000245407.3	37	c.775_776	CCDS4154.1	5																																																																																			SLC22A5	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197375		0.48	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A5	HGNC	protein_coding	OTTHUMT00000132631.1		0	81	0	GT	NM_003060		131721071	1	tier1		no_errors	ENST00000435065	ensembl	human	known	74_37	frame_shift_del	20.41	39	10	DEL	0.995:0.980	-	-	131721071	GT	-	131721070	7	5	91	1	0	1	0	1	0	0	0	0	14502	1029	36	0	717	0	SLC22A5	5	131721070	Frame_Shift_Del	DEL	GT	TCGA-L5-A8NS-01A-12D-A37C-09	35206217	131721070	49194190	130	26203											
FAM13B	51306	genome.wustl.edu	37	chr5	137295438	137295438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcattcaaatcacatatCttgctactagaatcctgtat	12	15	5	9	0	3	1	2	0	1	1	4	1	4	1	1	1	2	3	1	1	6	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:137295438C>G	ENST00000033079.3	-	13	1759	c.1308G>C	c.(1306-1308)aaG>aaC	p.K436N	FAM13B_ENST00000425075.2_Missense_Mutation_p.K318N|FAM13B_ENST00000420893.2_Missense_Mutation_p.K436N	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	436					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						AATCACATATCTTGCTACTAG	0.393																																																	0													83	72	76					5																	137295438		2203	4300	6503	SO:0001583	missense	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1308G>C	5.37:g.137295438C>G	ENSP00000033079:p.Lys436Asn		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K436N	ENST00000033079.3	37	c.1308	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244527	0.39697	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95342	-3.68;1.84;-3.68	5.57	3.77	0.43336	.	0.527835	0.21797	N	0.068974	D	0.91875	0.7428	M	0.68593	2.085	0.28925	N	0.891882	B;B;B	0.31383	0.321;0.13;0.004	B;B;B	0.32980	0.156;0.05;0.002	D	0.86564	0.1843	10	0.48119	T	0.1	0.0032	5.7668	0.18231	0.145:0.6499:0.0:0.2051	.	318;436;436	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	N	436;318;436	ENSP00000033079:K436N;ENSP00000394669:K318N;ENSP00000388521:K436N	ENSP00000033079:K436N	K	-	3	2	FAM13B	137323337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.613000	0.24299	0.686000	0.31488	0.655000	0.94253	AAG	FAM13B	-	NULL	ENSG00000031003		0.393	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	-	0	40	0	C			137295438	-1	tier1	-	no_errors	ENST00000033079	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	G	G	137295438	C	G	137295438	3	3	91	1	0	0	0	0	1	0	0	0	5472	912	32	5	1553	5	FAM13B	5	137295438	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	5574368	137295438	43619822	131	26204											
PSD2	84249	genome.wustl.edu	37	chr5	139219750	139219750	+	Frame_Shift_Del	DEL	T	T	-																															tgaaggagcactatctcaccTtcgaggtgagccttggggga																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:139219750delT	ENST00000274710.3	+	14	2312	c.2107delT	c.(2107-2109)ttcfs	p.F703fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	703					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATCTCACCTTCGAGGTGAG	0.602																																																	0													104	93	97					5																	139219750		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"Pleckstrin homology (PH) domain containing"	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.2107delT	5.37:g.139219750delT	ENSP00000274710:p.Phe703fs		D3DQD3|Q8N3J8	Frame_Shift_Del	DEL	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.F703fs	ENST00000274710.3	37	c.2107	CCDS4216.1	5																																																																																			PSD2	-	NULL	ENSG00000146005		0.602	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD2	HGNC	protein_coding	OTTHUMT00000251339.1		0	33	0	T	NM_032289		139219750	1	tier1		no_errors	ENST00000274710	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.961	-	-	139219750	T	-	139219750	7	5	91	1	0	1	0	1	0	0	0	0	12689	1609	56	0	2157	0	PSD2	5	139219750	Frame_Shift_Del	DEL	T	TCGA-L5-A8NS-01A-12D-A37C-09	1924312	139219750	41695510	132	26205											
PCDHA12	56137	genome.wustl.edu	37	chr5	140255825	140255825	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttgtctgaaaatgtccaAaacgacacaagagtgatcca	15	9	9	8	1	1	3	0	2	1	1	3	4	3	3	2	0	1	1	2	0	5	1	rs375639572		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:140255825A>C	ENST00000398631.2	+	1	768	c.768A>C	c.(766-768)caA>caC	p.Q256H	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAATGTCCAAAACGACACAA	0.428																																					Pancreas(113;759 1672 13322 24104 50104)												0													111	110	110					5																	140255825		1884	4106	5990	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"Cadherins / Protocadherins : Clustered"	8666	other	complex locus constituent	"KIAA0345-like 2"	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.768A>C	5.37:g.140255825A>C	ENSP00000381628:p.Gln256His		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Q256H	ENST00000398631.2	37	c.768	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	A	9.210	1.030731	0.19512	.	.	ENSG00000251664	ENST00000398631	T	0.52983	0.64	5.07	3.83	0.44106	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33933	0.0880	L	0.34521	1.04	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.001;0.007	T	0.19289	-1.0310	9	0.66056	D	0.02	.	4.1854	0.10395	0.5348:0.0:0.0905:0.3747	.	256;256	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	H	256	ENSP00000381628:Q256H	ENSP00000381628:Q256H	Q	+	3	2	PCDHA12	140236009	0.000000	0.05858	0.491000	0.27477	0.887000	0.51463	-4.285000	0.00259	1.910000	0.55303	0.482000	0.46254	CAA	PCDHA12	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000251664		0.428	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0	40	0	A	NM_018903		140255825	1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.000	C	C	140255825	A	C	140255825	3	2	91	1	0	0	0	0	1	0	0	0	11561	11	1	4	770	4	PCDHA12	5	140255825	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	1036075	140255825	40659435	133	26206											
PCDHB2	56133	genome.wustl.edu	37	chr5	140475221	140475221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggagaaatatcttatgcaTtttcccaagcatctgaagac	14	12	7	8	0	2	3	0	1	2	2	3	4	3	3	1	1	2	2	1	1	5	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:140475221T>C	ENST00000194155.4	+	1	995	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	283	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTTATGCATTTTCCCAAGC	0.458																																																	0													81	81	81					5																	140475221		2203	4300	6503	SO:0001583	missense	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.847T>C	5.37:g.140475221T>C	ENSP00000194155:p.Phe283Leu		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F283L	ENST00000194155.4	37	c.847	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	T	4.332	0.061068	0.08339	.	.	ENSG00000112852	ENST00000194155	T	0.43688	0.94	5.42	3.02	0.34903	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31606	0.0802	L	0.41124	1.26	0.35333	D	0.785803	B	0.18461	0.028	B	0.24155	0.051	T	0.25537	-1.0129	9	0.16896	T	0.51	.	9.6696	0.40004	0.0:0.1436:0.0:0.8564	.	283	Q9Y5E7	PCDB2_HUMAN	L	283	ENSP00000194155:F283L	ENSP00000194155:F283L	F	+	1	0	PCDHB2	140455405	0.127000	0.22367	0.510000	0.27712	0.825000	0.46686	0.423000	0.21313	0.444000	0.26612	0.533000	0.62120	TTT	PCDHB2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000112852		0.458	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2		0	28	0	T	NM_018936		140475221	1			no_errors	ENST00000194155	ensembl	human	known	74_37	missense	16.67	10	2	SNP	0.713	C	C	140475221	T	C	140475221	3	2	91	1	0	0	0	0	1	0	0	0	11581	1493	52	4	849	4	PCDHB2	5	140475221	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	219396	140475221	40440039	134	26207											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482266	140482266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcccggaggcggcacCggcccaggcccaggccgact	5	3	14	19	4	1	0	0	0	1	0	2	2	1	1	6	6	0	1	6	6	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:140482266C>T	ENST00000231130.2	+	1	2033	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	678					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCACCGGCCCAGGCC	0.672																																																	0													67	73	71					5																	140482266		2154	4222	6376	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2033C>T	5.37:g.140482266C>T	ENSP00000231130:p.Pro678Leu		B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P678L	ENST00000231130.2	37	c.2033	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606500	0.28623	.	.	ENSG00000113205	ENST00000231130	T	0.51817	0.69	4.29	-1.54	0.08584	.	.	.	.	.	T	0.41351	0.1155	M	0.76170	2.325	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.45673	-0.9245	9	0.54805	T	0.06	.	3.1527	0.06494	0.1244:0.4593:0.2571:0.1591	.	678	Q9Y5E6	PCDB3_HUMAN	L	678	ENSP00000231130:P678L	ENSP00000231130:P678L	P	+	2	0	PCDHB3	140462450	0.005000	0.15991	0.000000	0.03702	0.058000	0.15608	0.878000	0.28126	0.014000	0.14944	0.485000	0.47835	CCG	PCDHB3	-	NULL	ENSG00000113205		0.672	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	136	0	C	NM_018937		140482266	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	missense	12.33	64	9	SNP	0.000	T	T	140482266	C	T	140482266	3	4	91	1	0	0	0	0	1	0	0	0	11582	652	23	1	2035	1	PCDHB3	5	140482266	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	7045	140482266	40432994	135	26208											
PCDHB8	56128	genome.wustl.edu	37	chr5	140559207	140559207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcgttcgagttccGggtgggcgcttcagaccgcg	4	8	16	13	6	1	1	1	0	0	1	3	2	2	1	3	3	1	4	3	3	0	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:140559207G>A	ENST00000239444.2	+	1	1837	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R531Q(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGGGTGGGCGCT	0.672																																																	1	Substitution - Missense(1)	lung(1)											86	142	123					5																	140559207		2203	4300	6503	SO:0001583	missense	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"Cadherins / Protocadherins : Clustered"	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1592G>A	5.37:g.140559207G>A	ENSP00000239444:p.Arg531Gln		B9EGV1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R531Q	ENST00000239444.2	37	c.1592	CCDS4250.1	5	.	.	.	.	.	.	.	.	.	.	G	4.255	0.046262	0.08243	.	.	ENSG00000120322	ENST00000239444	T	0.01725	4.67	4.22	1.18	0.20946	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01254	0.0041	N	0.16567	0.415	0.09310	N	1	B	0.24368	0.102	B	0.23150	0.044	T	0.49634	-0.8919	9	0.23891	T	0.37	.	5.11	0.14804	0.3402:0.2748:0.3849:0.0	.	531	Q9UN66	PCDB8_HUMAN	Q	531	ENSP00000239444:R531Q	ENSP00000239444:R531Q	R	+	2	0	PCDHB8	140539391	0.000000	0.05858	0.761000	0.31378	0.153000	0.21895	-1.080000	0.03407	0.245000	0.21373	0.298000	0.19748	CGG	PCDHB8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120322		0.672	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2	-	0	450	0	G	NM_019120		140559207	1	tier1	-	no_errors	ENST00000239444	ensembl	human	known	74_37	missense	20.33	196	50	SNP	0.014	A	A	140559207	G	A	140559207	3	1	91	1	0	0	0	0	1	0	0	0	11587	1116	39	1	1594	1	PCDHB8	5	140559207	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	76941	140559207	40356053	136	26209											
PCDHGB7	56099	genome.wustl.edu	37	chr5	140798870	140798870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctctgacccagacttcGggctcaacggccgtgtctcc	5	9	11	16	3	3	2	1	1	2	1	5	2	3	2	4	2	2	1	4	2	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:140798870G>T	ENST00000398594.2	+	1	1444	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGACTTCGGGCTCAACGG	0.622																																																	0													77	89	85					5																	140798870		2137	4233	6370	SO:0001583	missense	0			AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"Cadherins / Protocadherins : Clustered"	8714	other	protocadherin	"cadherin ME6"	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1444G>T	5.37:g.140798870G>T	ENSP00000381594:p.Gly482Trp		Q9UN63	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G482W	ENST00000398594.2	37	c.1444	CCDS47293.1	5	.	.	.	.	.	.	.	.	.	.	g	9.730	1.162034	0.21538	.	.	ENSG00000254122	ENST00000398594	T	0.67523	-0.27	5.19	5.19	0.71726	Cadherin (4);Cadherin-like (1);	0.558425	0.13074	U	0.415836	D	0.88937	0.6573	H	0.97077	3.935	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82967	-0.0194	10	0.87932	D	0	.	18.3236	0.90246	0.0:0.0:1.0:0.0	.	482;482	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	W	482	ENSP00000381594:G482W	ENSP00000381594:G482W	G	+	1	0	PCDHGB7	140779054	0.653000	0.27358	0.624000	0.29186	0.167000	0.22549	1.627000	0.37050	2.410000	0.81850	0.491000	0.48974	GGG	PCDHGB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000254122		0.622	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB7	HGNC	protein_coding	OTTHUMT00000376973.1		0	34	0	G	NM_018927		140798870	1			no_errors	ENST00000398594	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.034	T	T	140798870	G	T	140798870	3	4	91	1	0	0	0	0	1	0	0	0	11607	1116	39	2	1446	2	PCDHGB7	5	140798870	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	239663	140798870	40116390	137	26210											
PDGFRB	5159	genome.wustl.edu	37	chr5	149499606	149499606	+	Frame_Shift_Del	DEL	G	G	-																															atctcccagagcaggatcccGaaggaccacacgtcgctcag																								rs527843077		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:149499606delG	ENST00000261799.4	-	19	3136	c.2667delC	c.(2665-2667)ttcfs	p.F889fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	889	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGATCCCGAAGGACCACA	0.567			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													128	105	112					5																	149499606		2203	4300	6503	SO:0001589	frameshift_variant	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2667delC	5.37:g.149499606delG	ENSP00000261799:p.Phe889fs		B5A957|Q8N5L4	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.F889fs	ENST00000261799.4	37	c.2667	CCDS4303.1	5																																																																																			PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113721		0.567	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1		0	31	0	G	NM_002609		149499606	-1	tier1		no_errors	ENST00000261799	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	0.947	-	-	149499606	G	-	149499606	7	5	91	1	0	1	0	1	0	0	0	0	11701	1049	37	0	673	0	PDGFRB	5	149499606	Frame_Shift_Del	DEL	G	TCGA-L5-A8NS-01A-12D-A37C-09	8700736	149499606	31415654	138	26211											
KIF4B	285643	genome.wustl.edu	37	chr5	154395889	154395889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaacagattgaaagcctaGagactgaaatggaactcagg	18	6	10	7	0	1	4	1	2	0	2	1	6	1	5	1	2	3	0	1	2	6	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:154395889G>A	ENST00000435029.4	+	1	2630	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	824	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAAAGCCTAGAGACTGAAAT	0.443																																																	0													56	58	57					5																	154395889		2203	4300	6503	SO:0001583	missense	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"Kinesins"	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2470G>A	5.37:g.154395889G>A	ENSP00000387875:p.Glu824Lys			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E824K	ENST00000435029.4	37	c.2470	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	15.79	2.936758	0.52972	.	.	ENSG00000226650	ENST00000435029	T	0.70869	-0.52	1.48	1.48	0.22813	.	.	.	.	.	T	0.69378	0.3104	M	0.72576	2.205	0.58432	D	0.999991	P	0.45986	0.87	P	0.47251	0.542	T	0.65813	-0.6077	9	0.23891	T	0.37	.	8.8832	0.35387	0.0:0.0:1.0:0.0	.	824	Q2VIQ3	KIF4B_HUMAN	K	824	ENSP00000387875:E824K	ENSP00000387875:E824K	E	+	1	0	KIF4B	154376082	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	1.370000	0.34238	1.138000	0.42230	0.563000	0.77884	GAG	KIF4B	-	NULL	ENSG00000226650		0.443	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	-	0	47	0	G			154395889	1	tier1	-	no_errors	ENST00000435029	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	A	A	154395889	G	A	154395889	3	1	91	1	0	0	0	0	1	0	0	0	8331	943	33	3	2472	3	KIF4B	5	154395889	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4896283	154395889	26519371	139	26212											
ODZ2	57451	genome.wustl.edu	37	chr5	167626888	167626888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttcatgaagaaatcgAgctccctggttccaatgtga	10	12	10	9	1	2	3	1	2	1	1	5	4	4	3	2	2	1	3	2	2	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:167626888A>G	ENST00000518659.1	+	17	3221	c.3182A>G	c.(3181-3183)gAg>gGg	p.E1061G	TENM2_ENST00000545108.1_Missense_Mutation_p.E1061G|TENM2_ENST00000519204.1_Missense_Mutation_p.E940G|TENM2_ENST00000403607.2_Missense_Mutation_p.E885G|TENM2_ENST00000520394.1_Missense_Mutation_p.E829G	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1061					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GAAGAAATCGAGCTCCCTGGT	0.498																																																	0													165	159	161					5																	167626888		1933	4151	6084	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.3182A>G	5.37:g.167626888A>G	ENSP00000429430:p.Glu1061Gly		Q9ULU2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E1061G	ENST00000518659.1	37	c.3182		5	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126719	0.37533	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89746	-2.09;-2.08;-2.19;-2.55;-2.56	5.05	5.05	0.67936	.	0.199119	0.52532	D	0.000078	D	0.92156	0.7513	L	0.50333	1.59	0.47407	D	0.999417	P;B;D	0.67145	0.575;0.439;0.996	B;B;D	0.75484	0.312;0.165;0.986	D	0.91619	0.5309	10	0.39692	T	0.17	.	14.8257	0.70110	1.0:0.0:0.0:0.0	.	1061;1061;829	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	G	1061;1061;940;829;885	ENSP00000429430:E1061G;ENSP00000438635:E1061G;ENSP00000428964:E940G;ENSP00000427874:E829G;ENSP00000384905:E885G	ENSP00000384905:E885G	E	+	2	0	ODZ2	167559466	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.306000	0.78905	1.896000	0.54893	0.459000	0.35465	GAG	TENM2	-	superfamily_ConA-like_lec_gl_sf	ENSG00000145934		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1		0	45	0	A	NM_001122679		167626888	1			no_errors	ENST00000518659	ensembl	human	known	74_37	missense	11.11	16	2	SNP	1.000	G	G	167626888	A	G	167626888	3	3	91	1	0	0	0	0	1	0	0	0	10874	304	11	4	3221	4	ODZ2	5	167626888	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	13230999	167626888	13288372	140	26213											
DOCK2	1794	genome.wustl.edu	37	chr5	169267766	169267766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgttttacaggccttCacctaccaccatatccagga	10	11	6	14	0	1	1	1	1	0	0	2	2	2	2	5	2	2	1	5	2	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:169267766C>A	ENST00000256935.8	+	27	2789	c.2709C>A	c.(2707-2709)ttC>ttA	p.F903L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F395L|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	903					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAGGCCTTCACCTACCACC	0.493																																																	0													142	113	123					5																	169267766		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2709C>A	5.37:g.169267766C>A	ENSP00000256935:p.Phe903Leu		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.F903L	ENST00000256935.8	37	c.2709	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019735	0.35606	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.18657	3.83;3.83;2.2	5.37	3.4	0.38934	.	0.402848	0.28766	N	0.014204	T	0.07052	0.0179	N	0.03608	-0.345	0.80722	D	1	B;B	0.19817	0.039;0.001	B;B	0.14023	0.01;0.002	T	0.19943	-1.0290	10	0.11182	T	0.66	.	5.5161	0.16908	0.2927:0.6032:0.0:0.104	.	395;903	E7ERW7;Q92608	.;DOCK2_HUMAN	L	903;284;395;107	ENSP00000256935:F903L;ENSP00000429283:F395L;ENSP00000428841:F107L	ENSP00000256935:F903L	F	+	3	2	DOCK2	169200344	0.994000	0.37717	1.000000	0.80357	0.949000	0.60115	0.122000	0.15687	1.258000	0.44101	0.650000	0.86243	TTC	DOCK2	-	superfamily_ARM-type_fold	ENSG00000134516		0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	54	0	C	NM_004946		169267766	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	A	A	169267766	C	A	169267766	3	1	91	1	0	0	0	0	1	0	0	0	4701	825	29	3	2815	3	DOCK2	5	169267766	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1640878	169267766	11647494	141	26214											
DOCK2	1794	genome.wustl.edu	37	chr5	169506006	169506006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaattagcatcacccaaGacgccgagagtggagcagga	13	5	13	10	2	1	2	1	0	0	2	1	6	1	5	2	3	2	2	2	3	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:169506006G>C	ENST00000256935.8	+	49	5102	c.5022G>C	c.(5020-5022)aaG>aaC	p.K1674N	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.K1166N|DOCK2_ENST00000540750.1_Missense_Mutation_p.K735N	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1674					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCACCCAAGACGCCGAGAG	0.562																																																	0													103	111	108					5																	169506006		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5022G>C	5.37:g.169506006G>C	ENSP00000256935:p.Lys1674Asn		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K1674N	ENST00000256935.8	37	c.5022	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917482	0.33815	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09723	3.6;3.24;2.95	4.92	3.13	0.36017	.	0.976609	0.08474	N	0.940579	T	0.09730	0.0239	L	0.27053	0.805	0.09310	N	1	B;B;B	0.25772	0.026;0.134;0.026	B;B;B	0.31946	0.021;0.138;0.014	T	0.45160	-0.9280	10	0.26408	T	0.33	.	8.8425	0.35151	0.2501:0.0:0.7499:0.0	.	1166;230;1674	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	N	1674;1166;735	ENSP00000256935:K1674N;ENSP00000429283:K1166N;ENSP00000438827:K735N	ENSP00000256935:K1674N	K	+	3	2	DOCK2	169438584	0.344000	0.24827	0.008000	0.14137	0.125000	0.20455	1.286000	0.33273	0.605000	0.29947	0.650000	0.86243	AAG	DOCK2	-	NULL	ENSG00000134516		0.562	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	46	0	G	NM_004946		169506006	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.201	C	C	169506006	G	C	169506006	3	2	91	1	0	0	0	0	1	0	0	0	4701	933	33	5	5216	5	DOCK2	5	169506006	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	238240	169506006	11409254	142	26215											
RANBP17	64901	genome.wustl.edu	37	chr5	170640676	170640676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaatgctgttgaacGgtggtatggagagccaacat	11	11	12	7	1	2	3	1	1	1	2	2	4	2	3	1	3	4	3	1	3	4	3	rs149025321	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:170640676G>A	ENST00000523189.1	+	21	2437	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	758					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.R758L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGTTGAACGGTGGTATGGA	0.398			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						G	GLN/ARG	0,4406		0,0,2203	201	187	192		2273	-5.3	0.2	5	dbSNP_134	192	5,8595	3.7+/-12.6	0,5,4295	yes	missense	RANBP17	NM_022897.3	43	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	758/1089	170640676	5,13001	2203	4300	6503	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2273G>A	5.37:g.170640676G>A	ENSP00000427975:p.Arg758Gln		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.R758Q	ENST00000523189.1	37	c.2273	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815678	0.32145	0.0	5.81E-4	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.21191	2.02	5.97	-5.26	0.02772	Armadillo-type fold (1);	0.799987	0.10761	N	0.637151	T	0.05593	0.0147	N	0.02539	-0.55	0.25104	N	0.990767	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40850	-0.9541	10	0.11794	T	0.64	0.295	6.2695	0.20947	0.5104:0.0:0.1902:0.2994	.	758;758	Q546R4;Q9H2T7	.;RBP17_HUMAN	Q	758;188	ENSP00000427975:R758Q	ENSP00000427975:R758Q	R	+	2	0	RANBP17	170573281	0.999000	0.42202	0.225000	0.23894	0.121000	0.20230	0.642000	0.24735	-1.048000	0.03238	0.655000	0.94253	CGG	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.398	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1		0	58	0	G	NM_022897		170640676	1			no_errors	ENST00000523189	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.915	A	A	170640676	G	A	170640676	3	1	91	1	0	0	0	0	1	0	0	0	13072	1116	39	1	2355	1	RANBP17	5	170640676	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1134670	170640676	10274584	143	26216											
NOP16	51491	genome.wustl.edu	37	chr5	175813854	175813854	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccaccattcagcacataGggcttccgtacaagctcttt	10	10	6	15	1	2	0	1	0	1	0	3	0	3	0	3	1	3	4	3	1	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr5:175813854G>T	ENST00000389158.5	-	3	708	c.273C>A	c.(271-273)ccC>ccA	p.P91P	HIGD2A_ENST00000274787.2_5'Flank|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000509257.1_Silent_p.P91P|NOP16_ENST00000510123.1_Silent_p.P91P			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	91						intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TCAGCACATAGGGCTTCCGTA	0.512																																																	0													137	139	138					5																	175813854		1993	4163	6156	SO:0001819	synonymous_variant	0				CCDS43403.1, CCDS58991.1	5q35.2	2012-12-10	2012-12-10		ENSG00000048162	ENSG00000048162			26934	protein-coding gene	gene with protein product	"hypothetical protein HSPC111", "HBV pre-S2 trans-regulated protein 3"	612861	"nucleolar protein 16 homolog (yeast)", "NOP16 nucleolar protein homolog (yeast)"			10810093, 11042152	Standard	NM_001291308		Approved	HSPC111, HSPC185, LOC51491	uc003mee.4	Q9Y3C1	OTTHUMG00000163186	ENST00000389158.5:c.273C>A	5.37:g.175813854G>T			B4DV13|D6RGD3|Q05D05|Q6IAI6|Q8IXL5	Silent	SNP	pfam_Ribosome_biogenesis_Nop16	p.P91	ENST00000389158.5	37	c.273	CCDS43403.1	5																																																																																			NOP16	-	pfam_Ribosome_biogenesis_Nop16	ENSG00000048162		0.512	NOP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP16	HGNC	protein_coding	OTTHUMT00000371963.1	-	0	46	0	G	NM_016391		175813854	-1	tier1	-	no_errors	ENST00000389158	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.997	T	T	175813854	G	T	175813854	2	4	91	1	0	0	0	0	0	0	0	1	10576	987	35	3		3	NOP16	5	175813854	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5173178	175813854	5101406	144	26217											
HIVEP1	3096	genome.wustl.edu	37	chr6	12125918	12125918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaccagaaaacttcaGcctatactgattggacagta	16	8	9	8	0	1	3	1	1	0	2	1	5	1	5	2	2	3	1	2	2	6	5	rs546867775	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:12125918G>C	ENST00000379388.2	+	4	6222	c.5890G>C	c.(5890-5892)Gcc>Ccc	p.A1964P	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1964					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAAAACTTCAGCCTATACTGA	0.438																																																	0													102	97	99					6																	12125918		1872	4110	5982	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5890G>C	6.37:g.12125918G>C	ENSP00000368698:p.Ala1964Pro		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1964P	ENST00000379388.2	37	c.5890	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.278029	0.95459	.	.	ENSG00000095951	ENST00000379388	T	0.11169	2.8	6.07	6.07	0.98685	.	0.000000	0.36134	N	0.002771	T	0.31071	0.0785	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.01090	-1.1455	9	.	.	.	-28.172	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1964	P15822	ZEP1_HUMAN	P	1964	ENSP00000368698:A1964P	.	A	+	1	0	HIVEP1	12233904	1.000000	0.71417	0.907000	0.35723	0.990000	0.78478	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GCC	HIVEP1	-	NULL	ENSG00000095951		0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2		0	50	0	G	NM_002114		12125918	1			no_errors	ENST00000379388	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	C	C	12125918	G	C	12125918	3	2	91	1	0	0	0	0	1	0	0	0	7213	971	34	5	5900	5	HIVEP1	6	12125918	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		12125918	158989149	145	26218											
KIAA0319	9856	genome.wustl.edu	37	chr6	24564486	24564486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccctgactgtcggtgActcgcaagtggaaagtgtac	9	8	13	11	2	0	2	0	2	0	0	2	3	0	3	2	3	1	2	2	3	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:24564486A>T	ENST00000378214.3	-	15	2899	c.2375T>A	c.(2374-2376)gTc>gAc	p.V792D	KIAA0319_ENST00000430948.2_Missense_Mutation_p.V747D|KIAA0319_ENST00000535378.1_Missense_Mutation_p.V783D|KIAA0319_ENST00000537886.1_Missense_Mutation_p.V792D|KIAA0319_ENST00000543707.1_Missense_Mutation_p.V792D	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	792	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACTGTCGGTGACTCGCAAGTG	0.592																																																	0													103	83	90					6																	24564486		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"neuronal migration"	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2375T>A	6.37:g.24564486A>T	ENSP00000367459:p.Val792Asp		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.V792D	ENST00000378214.3	37	c.2375	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	A	18.38	3.612036	0.66672	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.32	4.32	0.51571	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.000000	0.64402	D	0.000005	T	0.59636	0.2208	H	0.97983	4.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.972;0.998;0.999	T	0.76282	-0.3016	10	0.87932	D	0	-16.6387	13.6516	0.62314	1.0:0.0:0.0:0.0	.	792;783;792	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	D	792;783;747;792;792	ENSP00000439700:V792D;ENSP00000442403:V783D;ENSP00000401086:V747D;ENSP00000367459:V792D;ENSP00000437656:V792D	ENSP00000367459:V792D	V	-	2	0	KIAA0319	24672465	1.000000	0.71417	0.027000	0.17364	0.540000	0.34992	8.087000	0.89521	1.796000	0.52611	0.533000	0.62120	GTC	KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.592	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1		0	26	0	A	NM_014809		24564486	-1			no_errors	ENST00000378214	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T	T	24564486	A	T	24564486	3	4	91	1	0	0	0	0	1	0	0	0	8195	275	10	5	871	5	KIAA0319	6	24564486	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	12438568	24564486	146550581	146	26219											
ABT1	29777	genome.wustl.edu	37	chr6	26598649	26598649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaacgctttcttgcggccGatggggaccctgctcgccca	6	8	12	15	4	1	0	0	0	1	0	2	3	1	1	3	3	3	2	3	3	1	2	rs151288548		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:26598649G>A	ENST00000274849.1	+	3	626	c.595G>A	c.(595-597)Gat>Aat	p.D199N		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	199					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TCTTGCGGCCGATGGGGACCC	0.617																																																	0								G	ASN/ASP	0,4406		0,0,2203	40	41	41		595	4.5	0.9	6	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABT1	NM_013375.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	199/273	26598649	1,13005	2203	4300	6503	SO:0001583	missense	0			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.595G>A	6.37:g.26598649G>A	ENSP00000274849:p.Asp199Asn			Missense_Mutation	SNP	NULL	p.D199N	ENST00000274849.1	37	c.595	CCDS4616.1	6	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657094	0.47467	0.0	1.16E-4	ENSG00000146109	ENST00000274849	.	.	.	5.36	4.48	0.54585	.	0.411985	0.28583	N	0.014826	T	0.16854	0.0405	L	0.45581	1.43	0.27926	N	0.93807	P	0.40250	0.709	B	0.31101	0.124	T	0.03662	-1.1015	9	0.45353	T	0.12	-17.5155	12.7258	0.57170	0.0:0.3174:0.6826:0.0	.	199	Q9ULW3	ABT1_HUMAN	N	199	.	ENSP00000274849:D199N	D	+	1	0	ABT1	26706628	0.104000	0.21937	0.906000	0.35671	0.911000	0.54048	1.714000	0.37961	1.374000	0.46228	0.563000	0.77884	GAT	ABT1	-	NULL	ENSG00000146109		0.617	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABT1	HGNC	protein_coding	OTTHUMT00000043698.1		0	41	0	G			26598649	1			no_errors	ENST00000274849	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.766	A	A	26598649	G	A	26598649	3	1	91	1	0	0	0	0	1	0	0	0	101	1058	37	1	605	1	ABT1	6	26598649	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2034163	26598649	144516418	147	26220											
ZKSCAN4	387032	genome.wustl.edu	37	chr6	28213173	28213173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatttttatcaccatgAatcctctgatgtctcaggag	11	14	7	9	0	3	3	2	3	2	0	5	4	4	4	2	1	1	0	2	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:28213173A>G	ENST00000377294.2	-	5	1602	c.1359T>C	c.(1357-1359)atT>atC	p.I453I	ZKSCAN4_ENST00000423974.2_Silent_p.I298I	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	453					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TATCACCATGAATCCTCTGAT	0.473																																																	0													113	116	115					6																	28213173		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"Zinc fingers, C2H2-type", "-", "-", "-"	13854	protein-coding gene	gene with protein product		611643	"zinc finger protein 307", "zinc finger protein 427"	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1359T>C	6.37:g.28213173A>G			B2RE32|Q5U7L4	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.I453	ENST00000377294.2	37	c.1359	CCDS4647.1	6																																																																																			ZKSCAN4	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187626		0.473	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN4	HGNC	protein_coding	OTTHUMT00000040179.1	-	0	59	0	A	NM_019110		28213173	-1	tier1	-	no_errors	ENST00000377294	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	G	G	28213173	A	G	28213173	2	3	91	1	0	0	0	0	0	0	0	1	17737	242	9	4		4	ZKSCAN4	6	28213173	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	1614524	28213173	142901894	148	26221											
SCUBE3	222663	genome.wustl.edu	37	chr6	35216419	35216419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacacaaggagatgctGccaaaatccttcatcaagct	16	7	8	10	0	2	2	2	0	0	2	3	4	3	2	2	1	4	2	2	1	5	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:35216419G>A	ENST00000274938.7	+	22	2919	c.2919G>A	c.(2917-2919)ctG>ctA	p.L973L	SCUBE3_ENST00000394681.1_Silent_p.L989L	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGAGATGCTGCCAAAATCCT	0.498																																																	0													157	146	150					6																	35216419		2203	4300	6503	SO:0001819	synonymous_variant	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2919G>A	6.37:g.35216419G>A				Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.L989	ENST00000274938.7	37	c.2967	CCDS4800.1	6																																																																																			SCUBE3	-	NULL	ENSG00000146197		0.498	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0	35	0	G	NM_152753		35216419	1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	silent	16.67	15	3	SNP	1.000	A	A	35216419	G	A	35216419	2	1	91	1	0	0	0	0	0	0	0	1	13991	1306	46	3		3	SCUBE3	6	35216419	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7003246	35216419	135898648	149	26222											
BRPF3	27154	genome.wustl.edu	37	chr6	36196795	36196795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcagaggctggagagaaGctcttccttgtcctcttctt	7	12	11	11	0	3	2	0	0	3	2	5	4	5	3	2	3	1	3	2	3	1	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:36196795G>A	ENST00000357641.6	+	12	3649	c.3396G>A	c.(3394-3396)aaG>aaA	p.K1132K	BRPF3_ENST00000534400.1_Missense_Mutation_p.A1100T|BRPF3_ENST00000339717.7_Silent_p.K862K|BRPF3_ENST00000543502.1_Silent_p.K862K|BRPF3_ENST00000534694.1_Silent_p.K798K|BRPF3_ENST00000443324.2_Silent_p.K798K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1132	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTGGAGAGAAGCTCTTCCTTG	0.632																																																	0													83	76	79					6																	36196795		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3396G>A	6.37:g.36196795G>A			A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.A1100T	ENST00000357641.6	37	c.3298	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	G	8.260	0.810962	0.16537	.	.	ENSG00000096070	ENST00000534400	T	0.15372	2.43	5.21	4.32	0.51571	.	.	.	.	.	T	0.03827	0.0108	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12344	-1.0551	6	0.05833	T	0.94	.	11.038	0.47814	0.1481:0.0:0.8519:0.0	.	.	.	.	T	1100	ENSP00000436504:A1100T	ENSP00000436504:A1100T	A	+	1	0	BRPF3	36304773	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.255000	0.32909	2.591000	0.87537	0.655000	0.94253	GCT	BRPF3	-	NULL	ENSG00000096070		0.632	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3		0	52	0	G	NM_015695		36196795	1			no_errors	ENST00000534400	ensembl	human	putative	74_37	missense	11.11	24	3	SNP	1.000	A	A	36196795	G	A	36196795	2	1	91	1	0	0	0	0	0	0	0	1	1525	962	34	3		3	BRPF3	6	36196795	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	980376	36196795	134918272	150	26223											
DNAH8	1769	genome.wustl.edu	37	chr6	38917247	38917247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatatctcgtaatgagaaggGgtggaaaagctggtttgata	13	11	14	3	1	1	2	0	2	1	1	2	5	1	3	0	4	1	3	0	4	6	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:38917247G>T	ENST00000359357.3	+	79	11752	c.11498G>T	c.(11497-11499)gGg>gTg	p.G3833V	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3797V|DNAH8_ENST00000449981.2_Missense_Mutation_p.G4050V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3833					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATGAGAAGGGGTGGAAAAGC	0.373																																																	0													150	173	165					6																	38917247		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11498G>T	6.37:g.38917247G>T	ENSP00000352312:p.Gly3833Val		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G3833V	ENST00000359357.3	37	c.11498		6	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127468	0.37533	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08282	3.11;3.11;3.11	5.5	5.5	0.81552	Dynein heavy chain (1);	0.269412	0.36444	N	0.002588	T	0.03695	0.0105	L	0.33710	1.025	0.58432	D	0.999993	B;B	0.32467	0.321;0.372	B;B	0.36030	0.138;0.216	T	0.45687	-0.9244	10	0.31617	T	0.26	.	11.4039	0.49885	0.0:0.1351:0.7249:0.14	.	3797;3833	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	V	4038;4038;3833;3797	ENSP00000333363:G4038V;ENSP00000352312:G3833V;ENSP00000402294:G3797V	ENSP00000333363:G4038V	G	+	2	0	DNAH8	39025225	0.163000	0.22920	1.000000	0.80357	0.997000	0.91878	0.590000	0.23954	2.602000	0.87976	0.591000	0.81541	GGG	DNAH8	-	pfam_Dynein_heavy_dom	ENSG00000124721		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	54	0	G	NM_001206927		38917247	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	19.57	36	9	SNP	0.958	T	T	38917247	G	T	38917247	3	4	91	1	0	0	0	0	1	0	0	0	4621	1232	43	3	11804	3	DNAH8	6	38917247	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2720452	38917247	132197820	151	26224											
NCR2	9436	genome.wustl.edu	37	chr6	41309806	41309806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgctccgccctggccctgCagcccccattgccctggtgc	3	7	10	21	2	0	0	0	0	0	0	1	0	1	0	6	2	4	2	6	2	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:41309806C>T	ENST00000373089.5	+	4	651	c.563C>T	c.(562-564)gCa>gTa	p.A188V	NCR2_ENST00000373086.3_Missense_Mutation_p.A200V|NCR2_ENST00000373083.4_Missense_Mutation_p.A188V	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	188					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTGGCCCTGCAGCCCCCATT	0.657																																																	0													134	122	126					6																	41309806		2203	4300	6503	SO:0001583	missense	0			AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	6732	protein-coding gene	gene with protein product		604531	"lymphocyte antigen 95 (activating NK-receptor; NK-p44)"	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.563C>T	6.37:g.41309806C>T	ENSP00000362181:p.Ala188Val		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A188V	ENST00000373089.5	37	c.563	CCDS4855.1	6	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031969	0.35893	.	.	ENSG00000096264	ENST00000373083;ENST00000373089;ENST00000373086	T;T;T	0.15139	2.61;2.76;2.45	1.88	-1.7	0.08159	.	.	.	.	.	T	0.07324	0.0185	L	0.29908	0.895	0.09310	N	1	D;D;P	0.54207	0.965;0.965;0.941	P;P;P	0.55615	0.78;0.702;0.607	T	0.11251	-1.0595	9	0.59425	D	0.04	.	2.9556	0.05875	0.4578:0.3804:0.0:0.1618	.	188;200;188	O95944-3;O95944-2;O95944	.;.;NCTR2_HUMAN	V	188;188;200	ENSP00000362175:A188V;ENSP00000362181:A188V;ENSP00000362178:A200V	ENSP00000362175:A188V	A	+	2	0	NCR2	41417784	0.000000	0.05858	0.018000	0.16275	0.063000	0.16089	-0.046000	0.11983	-0.480000	0.06803	-0.518000	0.04402	GCA	NCR2	-	NULL	ENSG00000096264		0.657	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR2	HGNC	protein_coding	OTTHUMT00000040511.3		0	36	0	C			41309806	1			no_errors	ENST00000373089	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.019	T	T	41309806	C	T	41309806	3	4	91	1	0	0	0	0	1	0	0	0	10277	710	25	3	577	3	NCR2	6	41309806	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2392559	41309806	129805261	152	26225											
ENPP4	22875	genome.wustl.edu	37	chr6	46107441	46107441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcttcagagctgattatCtgaagaactatgaatttcct	12	14	8	7	0	2	5	1	3	1	2	3	5	3	5	1	1	2	2	1	1	5	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:46107441C>T	ENST00000321037.4	+	2	351	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	41					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.L41L(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AGCTGATTATCTGAAGAACTA	0.338																																																	1	Substitution - coding silent(1)	lung(1)											71	74	73					6																	46107441		2201	4297	6498	SO:0001819	synonymous_variant	0			AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.121C>T	6.37:g.46107441C>T			A8K5G1|Q7L2N1	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.L41	ENST00000321037.4	37	c.121	CCDS34468.1	6																																																																																			ENPP4	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000001561		0.338	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP4	HGNC	protein_coding	OTTHUMT00000040777.2		0	46	0	C			46107441	1			no_errors	ENST00000321037	ensembl	human	known	74_37	silent	11.11	16	2	SNP	1.000	T	T	46107441	C	T	46107441	2	4	91	1	0	0	0	0	0	0	0	1	5148	912	32	3		3	ENPP4	6	46107441	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4797635	46107441	125007626	153	26226											
PKHD1	5314	genome.wustl.edu	37	chr6	51503655	51503655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtataaaattacctggaggaGaagtgacagtaaaaataaag	20	8	10	3	0	0	2	0	1	0	1	0	4	0	3	1	2	1	2	1	2	10	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:51503655G>A	ENST00000371117.3	-	64	11773	c.11498C>T	c.(11497-11499)tCt>tTt	p.S3833F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3833					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGAGGAGAAGTGACAGT	0.373																																																	0													137	140	139					6																	51503655		2203	4300	6503	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11498C>T	6.37:g.51503655G>A	ENSP00000360158:p.Ser3833Phe		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1	p.S3833F	ENST00000371117.3	37	c.11498	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066936	0.36470	.	.	ENSG00000170927	ENST00000371117	D	0.86627	-2.15	5.7	1.92	0.25849	.	0.337841	0.29225	N	0.012777	T	0.63663	0.2530	L	0.31664	0.95	0.80722	D	1	B	0.32071	0.355	B	0.28638	0.092	T	0.59172	-0.7504	10	0.39692	T	0.17	.	7.3509	0.26691	0.3473:0.0:0.6527:0.0	.	3833	P08F94	PKHD1_HUMAN	F	3833	ENSP00000360158:S3833F	ENSP00000360158:S3833F	S	-	2	0	PKHD1	51611614	0.998000	0.40836	0.985000	0.45067	0.976000	0.68499	1.313000	0.33585	0.331000	0.23511	0.585000	0.79938	TCT	PKHD1	-	NULL	ENSG00000170927		0.373	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1		0	52	0	G	NM_138694		51503655	-1			no_errors	ENST00000371117	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.853	A	A	51503655	G	A	51503655	3	1	91	1	0	0	0	0	1	0	0	0	12010	942	33	3	742	3	PKHD1	6	51503655	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5396214	51503655	119611412	154	26227											
DST	667	genome.wustl.edu	37	chr6	56358968	56358968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctttagcttcaaaggcaGcacagacttcctaaattgag	12	12	7	10	0	2	2	1	1	1	1	3	2	3	2	1	1	2	3	1	1	4	7	rs565745746		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:56358968G>A	ENST00000361203.3	-	78	19281	c.19274C>T	c.(19273-19275)gCt>gTt	p.A6425V	DST_ENST00000421834.2_Missense_Mutation_p.A4448V|DST_ENST00000370754.5_Missense_Mutation_p.A6714V|DST_ENST00000370788.2_Missense_Mutation_p.A4339V|DST_ENST00000244364.6_Missense_Mutation_p.A4122V|DST_ENST00000370769.4_Missense_Mutation_p.A6536V|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.A6210V|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	6425					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCAAAGGCAGCACAGACTTC	0.378																																																	0													123	111	115					6																	56358968		1835	4090	5925	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19274C>T	6.37:g.56358968G>A	ENSP00000354508:p.Ala6425Val		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A6714V	ENST00000361203.3	37	c.20141		6	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174511	0.57692	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.56	4.66	0.58398	.	0.251825	0.27572	N	0.018779	T	0.54464	0.1860	L	0.53249	1.67	0.27099	N	0.962679	D;P;P;B;B	0.53462	0.96;0.763;0.599;0.085;0.317	P;P;B;B;B	0.59357	0.856;0.507;0.206;0.133;0.138	T	0.49184	-0.8966	9	0.30078	T	0.28	.	15.7935	0.78388	0.0:0.0:0.8633:0.1367	.	4448;6536;6714;6534;4122	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	4122;6714;6536;4448;6210;4339;6425	ENSP00000244364:A4122V;ENSP00000359790:A6714V;ENSP00000359805:A6536V;ENSP00000400883:A4448V;ENSP00000393645:A6210V;ENSP00000359824:A4339V;ENSP00000354508:A6425V	ENSP00000244364:A4122V	A	-	2	0	DST	56466927	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.661000	0.61518	2.615000	0.88500	0.563000	0.77884	GCT	DST	-	pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000151914		0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	41	0	G	NM_001723		56358968	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A	A	56358968	G	A	56358968	3	1	91	1	0	0	0	0	1	0	0	0	4797	971	34	3	3234	3	DST	6	56358968	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4855313	56358968	114756099	155	26228											
TTK	7272	genome.wustl.edu	37	chr6	80721267	80721267	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccaggtttttatatgggTaaggaaacggaaacagtttt	14	12	11	4	1	0	0	0	0	0	0	0	2	0	2	1	4	3	3	1	4	6	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:80721267T>A	ENST00000369798.2	+	6	839		c.e6+2		TTK_ENST00000230510.3_Splice_Site|TTK_ENST00000509894.1_Splice_Site	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase						chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTATATGGGTAAGGAAACGG	0.348																																																	0													53	52	53					6																	80721267		2200	4297	6497	SO:0001630	splice_region_variant	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"cancer/testis antigen 96", "monopolar spindle 1 kinase"	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.728+2T>A	6.37:g.80721267T>A			A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Splice_Site	SNP	-	e5+2	ENST00000369798.2	37	c.728+2	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885232	0.51908	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.792	0.52075	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTK	80777986	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	2.720000	0.47252	2.092000	0.63282	0.459000	0.35465	.	TTK	-	-	ENSG00000112742		0.348	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0	34	0	T		Intron	80721267	1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	splice_site	26.32	14	5	SNP	1.000	A	A	80721267	T	A	80721267	5	1	91	1	0	0	0	0	0	0	1	0	16769	1652	57	5	748	5	TTK	6	80721267	Splice_Site	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	24362299	80721267	90393800	156	26229											
DOPEY1	23033	genome.wustl.edu	37	chr6	83855342	83855342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatccagactgtaaaagaaGttttaaagcagccaccagcc	15	9	7	10	0	0	2	0	0	0	2	1	2	1	2	4	0	3	3	4	0	6	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:83855342G>T	ENST00000349129.2	+	25	5901	c.5641G>T	c.(5641-5643)Gtt>Ttt	p.V1881F	DOPEY1_ENST00000237163.5_Missense_Mutation_p.V1862F|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.V1872F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1881					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTAAAAGAAGTTTTAAAGCA	0.388																																																	0													76	69	72					6																	83855342		2203	4300	6503	SO:0001583	missense	0			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"KIAA1117"	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.5641G>T	6.37:g.83855342G>T	ENSP00000195654:p.Val1881Phe		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.V1881F	ENST00000349129.2	37	c.5641	CCDS4996.1	6	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963818	0.92791	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.46063	1.25;0.88	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.67700	2.07	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.996;0.996;0.996	T	0.37709	-0.9694	10	0.21540	T	0.41	.	20.5989	0.99451	0.0:0.0:1.0:0.0	.	1772;1872;1881	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	F	1881;1862;1862	ENSP00000195654:V1881F;ENSP00000237163:V1862F	ENSP00000237163:V1862F	V	+	1	0	DOPEY1	83912061	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.444000	0.97578	2.871000	0.98454	0.637000	0.83480	GTT	DOPEY1	-	superfamily_ARM-type_fold	ENSG00000083097		0.388	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2		0	52	0	G	NM_015018		83855342	1			no_errors	ENST00000349129	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	83855342	G	T	83855342	3	4	91	1	0	0	0	0	1	0	0	0	4721	1029	36	3	5731	3	DOPEY1	6	83855342	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3134075	83855342	87259725	157	26230											
PDSS2	57107	genome.wustl.edu	37	chr6	107595332	107595332	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattgcatgtctttcagTggaccatcagatgattgcaa	12	12	8	9	0	3	2	2	1	1	1	3	3	3	3	2	1	2	2	2	1	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:107595332T>C	ENST00000369037.4	-	3	808	c.531A>G	c.(529-531)ccA>ccG	p.P177P	PDSS2_ENST00000369031.4_Silent_p.P177P|PDSS2_ENST00000453874.2_Silent_p.P177P	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	177					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		TGTCTTTCAGTGGACCATCAG	0.408																																																	0													110	104	106					6																	107595332		2203	4300	6503	SO:0001819	synonymous_variant	0			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"chromosome 6 open reading frame 210"	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.531A>G	6.37:g.107595332T>C			Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.P177	ENST00000369037.4	37	c.531	CCDS5059.1	6																																																																																			PDSS2	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	ENSG00000164494		0.408	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1		0	54	0	T	NM_020381		107595332	-1			no_errors	ENST00000369037	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.988	C	C	107595332	T	C	107595332	2	2	91	1	0	0	0	0	0	0	0	1	11733	1683	59	4		4	PDSS2	6	107595332	Silent	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	23739990	107595332	63519735	158	26231											
FOXO3	2309	genome.wustl.edu	37	chr6	108984758	108984758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatcatcaaccctgatggggGgaagagcggaaaagcccccc	12	4	13	12	1	2	2	2	1	0	1	2	5	2	4	4	4	3	0	4	4	4	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:108984758G>C	ENST00000343882.6	+	3	1026	c.722G>C	c.(721-723)gGg>gCg	p.G241A	FOXO3_ENST00000406360.1_Missense_Mutation_p.G241A|FOXO3_ENST00000540898.1_Missense_Mutation_p.G21A	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	241				PDGGKSGKA -> LMGEERKT (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCTGATGGGGGGAAGAGCGGA	0.582																																																	0													25	27	26					6																	108984758		2190	4252	6442	SO:0001583	missense	0			AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"Forkhead boxes"	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.722G>C	6.37:g.108984758G>C	ENSP00000339527:p.Gly241Ala		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G241A	ENST00000343882.6	37	c.722	CCDS5068.1	6	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516068	0.27123	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.95205	-3.64;-3.64	5.74	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.63208	1.945	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	D	0.96502	0.9372	10	0.72032	D	0.01	-12.2582	16.1297	0.81418	0.0:0.0:0.8652:0.1348	.	241	O43524	FOXO3_HUMAN	A	241;241;21;21	ENSP00000339527:G241A;ENSP00000385824:G241A	ENSP00000339527:G241A	G	+	2	0	FOXO3	109091451	1.000000	0.71417	0.953000	0.39169	0.165000	0.22458	9.433000	0.97501	1.409000	0.46915	-0.314000	0.08810	GGG	FOXO3	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000118689		0.582	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO3	HGNC	protein_coding	OTTHUMT00000041722.2		0	45	0	G			108984758	1			no_errors	ENST00000343882	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	C	C	108984758	G	C	108984758	3	2	91	1	0	0	0	0	1	0	0	0	6048	1232	43	5	728	5	FOXO3	6	108984758	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1389426	108984758	62130309	159	26232											
COL10A1	1300	genome.wustl.edu	37	chr6	116442377	116442377	+	Frame_Shift_Del	DEL	G	G	-																															ccttcaggcctggcaagcctGgtttcccaaagccaggaggc																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:116442377delG	ENST00000327673.4	-	2	1309	c.902delC	c.(901-903)ccafs	p.P301fs	NT5DC1_ENST00000319550.4_Intron|AL121963.1_ENST00000430695.1_Frame_Shift_Del_p.G11fs|COL10A1_ENST00000243222.4_Frame_Shift_Del_p.P301fs			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	301	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TGGCAAGCCTGGTTTCCCAAA	0.642																																																	0													28	32	31					6																	116442377		2191	4289	6480	SO:0001589	frameshift_variant	0				CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"Collagens"	2185	protein-coding gene	gene with protein product	"Schmid metaphyseal chondrodysplasia"	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.902delC	6.37:g.116442377delG	ENSP00000327368:p.Pro301fs		A1L4P2	Frame_Shift_Del	DEL	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.P301fs	ENST00000327673.4	37	c.902	CCDS5105.1	6																																																																																			COL10A1	-	NULL	ENSG00000123500		0.642	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL10A1	HGNC	protein_coding	OTTHUMT00000041926.1		0	24	0	G			116442377	-1	tier1		no_errors	ENST00000243222	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	-	-	116442377	G	-	116442377	7	5	91	1	0	1	0	1	0	0	0	0	3673	1348	47	0	1144	0	COL10A1	6	116442377	Frame_Shift_Del	DEL	G	TCGA-L5-A8NS-01A-12D-A37C-09	7457619	116442377	54672690	160	26233											
LAMA2	3908	genome.wustl.edu	37	chr6	129807652	129807652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactcctcaacaggggccgtCtggaagtgcatctctccaca	9	9	9	14	1	3	0	1	0	2	0	6	1	5	1	3	3	3	1	3	3	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:129807652C>T	ENST00000421865.2	+	56	7832	c.7783C>T	c.(7783-7785)Ctg>Ttg	p.L2595L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2595	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGGGGCCGTCTGGAAGTGCA	0.443																																																	0													87	77	80					6																	129807652		2203	4300	6503	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7783C>T	6.37:g.129807652C>T			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2595	ENST00000421865.2	37	c.7783	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196569		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	40	0	C			129807652	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.983	T	T	129807652	C	T	129807652	2	4	91	1	0	0	0	0	0	0	0	1	8634	912	32	3		3	LAMA2	6	129807652	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	13365275	129807652	41307415	161	26234											
HEBP2	23593	genome.wustl.edu	37	chr6	138727227	138727227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaacagcaatttgatccaCccaggcctttagagtcagat	12	10	8	11	0	1	4	1	2	0	2	2	4	2	4	3	1	2	1	3	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:138727227C>T	ENST00000607197.1	+	3	635	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	HEBP2_ENST00000448741.1_Intron|HEBP2_ENST00000367697.3_Intron	NM_014320.2	NP_055135.1	Q9Y5Z4	HEBP2_HUMAN	heme binding protein 2	120					negative regulation of mitochondrial membrane potential (GO:0010917)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of necrotic cell death (GO:0010940)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(32;0.0933)			GBM - Glioblastoma multiforme(68;0.000732)|OV - Ovarian serous cystadenocarcinoma(155;0.00171)		ATTTGATCCACCCAGGCCTTT	0.443																																																	0													191	186	188					6																	138727227		2203	4300	6503	SO:0001583	missense	0			AF117616	CCDS5191.1	6q24	2008-08-29	2002-09-23	2002-09-27	ENSG00000051620	ENSG00000051620			15716	protein-coding gene	gene with protein product		605825	"chromosome 6 open reading frame 34"	C6orf34		10640688, 17098234	Standard	NM_014320		Approved	SOUL	uc003qhw.1	Q9Y5Z4	OTTHUMG00000015671	ENST00000607197.1:c.358C>T	6.37:g.138727227C>T	ENSP00000475750:p.Pro120Ser		Q96P57	Missense_Mutation	SNP	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom	p.P120S	ENST00000607197.1	37	c.358	CCDS5191.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010531	0.75046	.	.	ENSG00000051620	ENST00000058691	T	0.67865	-0.29	5.33	5.33	0.75918	Regulatory factor, effector, bacterial (1);	0.000000	0.85682	D	0.000000	D	0.83769	0.5326	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87590	0.2490	9	.	.	.	.	15.9103	0.79467	0.0:1.0:0.0:0.0	.	120	Q9Y5Z4	HEBP2_HUMAN	S	120	ENSP00000058691:P120S	.	P	+	1	0	HEBP2	138768920	0.999000	0.42202	0.997000	0.53966	0.764000	0.43329	5.392000	0.66272	2.498000	0.84270	0.491000	0.48974	CCC	HEBP2	-	pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom	ENSG00000051620		0.443	HEBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEBP2	HGNC	protein_coding	OTTHUMT00000042426.2		0	62	0	C			138727227	1			no_errors	ENST00000607197	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.999	T	T	138727227	C	T	138727227	3	4	91	1	0	0	0	0	1	0	0	0	7064	507	18	3	368	3	HEBP2	6	138727227	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	8919575	138727227	32387840	162	26235											
SYNE1	23345	genome.wustl.edu	37	chr6	152590290	152590290	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggtaggaaacactttacTttttgttgctggagactgct	10	14	11	6	0	0	2	0	0	0	2	0	4	0	3	0	3	4	4	0	3	3	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:152590290T>G	ENST00000367255.5	-	99	19306	c.18705A>C	c.(18703-18705)aaA>aaC	p.K6235N	SYNE1_ENST00000423061.1_Splice_Site_p.K6164N|SYNE1_ENST00000341594.5_Splice_Site_p.K5847N|SYNE1_ENST00000265368.4_Splice_Site_p.K6235N|SYNE1_ENST00000356820.4_Splice_Site_p.K759N|SYNE1_ENST00000448038.1_Splice_Site_p.K6164N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6235					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACACTTTACTTTTTGTTGCT	0.527										HNSCC(10;0.0054)																																							0													100	96	98					6																	152590290		2203	4300	6503	SO:0001630	splice_region_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18705+1A>C	6.37:g.152590290T>G			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K6235N	ENST00000367255.5	37	c.18705	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	20.5	4.003416	0.74932	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.61510	0.19;0.16;0.1;0.17;0.34;0.95	5.57	1.73	0.24493	.	0.000000	0.64402	D	0.000004	T	0.60457	0.2270	M	0.67953	2.075	0.49213	D	0.999763	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.962;0.962;0.983	T	0.61778	-0.6993	9	.	.	.	.	10.8447	0.46737	0.0:0.2548:0.0:0.7452	.	6235;6235;6164	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	N	6235;6164;6235;6164;5847;759	ENSP00000356224:K6235N;ENSP00000396024:K6164N;ENSP00000265368:K6235N;ENSP00000390975:K6164N;ENSP00000341887:K5847N;ENSP00000349276:K759N	.	K	-	3	2	SYNE1	152631983	0.994000	0.37717	1.000000	0.80357	0.915000	0.54546	0.288000	0.18939	0.448000	0.26722	0.533000	0.62120	AAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.527	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	50	0	T	NM_182961	Missense_Mutation	152590290	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	G	G	152590290	T	G	152590290	5	3	91	1	0	0	0	0	0	0	1	0	15492	1623	56	4	7953	4	SYNE1	6	152590290	Splice_Site	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	13863063	152590290	18524777	163	26236											
SYNE1	23345	genome.wustl.edu	37	chr6	152658135	152658135	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagttaagttctgggcctgGacaagcttttgttcaatctt	8	16	10	7	0	3	1	1	1	2	0	3	2	3	2	1	2	1	4	1	2	3	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:152658135G>T	ENST00000367255.5	-	76	12970	c.12369C>A	c.(12367-12369)gtC>gtA	p.V4123V	SYNE1_ENST00000423061.1_Silent_p.V4052V|SYNE1_ENST00000341594.5_Silent_p.V3988V|SYNE1_ENST00000265368.4_Silent_p.V4123V|SYNE1_ENST00000448038.1_Silent_p.V4052V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4123					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGGGCCTGGACAAGCTTTT	0.423										HNSCC(10;0.0054)																																							0													64	59	60					6																	152658135		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12369C>A	6.37:g.152658135G>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.V4123	ENST00000367255.5	37	c.12369	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.423	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	37	0	G	NM_182961		152658135	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.000	T	T	152658135	G	T	152658135	2	4	91	1	0	0	0	0	0	0	0	1	15492	1161	41	3		3	SYNE1	6	152658135	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	67845	152658135	18456932	164	26237											
SYNE1	23345	genome.wustl.edu	37	chr6	152804261	152804261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtatcgtgtttgctgtttCctcgtggacctgttgaacgg	4	17	12	8	3	0	1	0	1	0	0	3	2	1	2	2	2	2	5	2	2	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr6:152804261C>T	ENST00000367255.5	-	14	1910	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SYNE1_ENST00000413186.2_Missense_Mutation_p.E437K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E444K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E437K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E427K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E437K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E437K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E444K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E437K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	437					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCTGTTTCCTCGTGGACC	0.493										HNSCC(10;0.0054)																																							0													345	324	331					6																	152804261		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1309G>A	6.37:g.152804261C>T	ENSP00000356224:p.Glu437Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E437K	ENST00000367255.5	37	c.1309	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	35	5.466821	0.96257	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91631	0.49;0.5;0.4;0.49;0.69;-2.29;-2.44;-2.42;-2.64;-2.88	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000021	D	0.95915	0.8670	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.986;0.967;0.986;0.992	D;P;P;P;D	0.83275	0.996;0.864;0.817;0.864;0.936	D	0.94264	0.7505	10	0.45353	T	0.12	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	420;437;437;437;444	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	437;444;437;444;437;437;427;437;437;420	ENSP00000356224:E437K;ENSP00000396024:E444K;ENSP00000265368:E437K;ENSP00000390975:E444K;ENSP00000341887:E437K;ENSP00000356222:E437K;ENSP00000356217:E427K;ENSP00000414510:E437K;ENSP00000446021:E437K;ENSP00000441264:E420K	ENSP00000265368:E437K	E	-	1	0	SYNE1	152845954	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.726000	0.68515	2.941000	0.99782	0.655000	0.94253	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	58	0	C	NM_182961		152804261	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	152804261	C	T	152804261	3	4	91	1	0	0	0	0	1	0	0	0	15492	864	30	3	25689	3	SYNE1	6	152804261	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	146126	152804261	18310806	165	26238											
CARD11	84433	genome.wustl.edu	37	chr7	2976751	2976751	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcctcccgccgcaccaTctcgatcctcatctcgtcgt	5	9	8	19	5	3	0	1	0	2	0	8	1	5	0	5	1	0	2	5	1	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:2976751T>G	ENST00000396946.4	-	9	1664	c.1261A>C	c.(1261-1263)Atg>Ctg	p.M421L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	421					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCCGCACCATCTCGATCCTC	0.592			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"caspase recruitment domain family, member 11"		L	0													160	129	140					7																	2976751		2203	4300	6503	SO:0001583	missense	0			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"card-maguk protein 1", "bcl10-interacting maguk protein 3"	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1261A>C	7.37:g.2976751T>G	ENSP00000380150:p.Met421Leu		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD	p.M421L	ENST00000396946.4	37	c.1261	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	T	4.500	0.092729	0.08632	.	.	ENSG00000198286	ENST00000396946	T	0.29917	1.55	5.22	1.24	0.21308	.	0.182330	0.56097	N	0.000021	T	0.07773	0.0195	N	0.01576	-0.805	0.37417	D	0.913465	B	0.09022	0.002	B	0.04013	0.001	T	0.38178	-0.9673	10	0.02654	T	1	-37.5613	6.065	0.19858	0.0:0.1524:0.4054:0.4422	.	421	Q9BXL7	CAR11_HUMAN	L	421	ENSP00000380150:M421L	ENSP00000380150:M421L	M	-	1	0	CARD11	2943277	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	1.524000	0.35942	-0.020000	0.14032	0.459000	0.35465	ATG	CARD11	-	NULL	ENSG00000198286		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4		0	42	0	T	NM_032415		2976751	-1			no_errors	ENST00000396946	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.995	G	G	2976751	T	G	2976751	3	3	91	1	0	0	0	0	1	0	0	0	2652	1435	50	4	2271	4	CARD11	7	2976751	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09		2976751	156161912	166	26239											
SDK1	221935	genome.wustl.edu	37	chr7	4152946	4152946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgaagcaagtgaacattGttgggccgagcccctacagt	12	8	12	9	1	0	2	0	2	0	0	0	4	0	2	3	1	4	2	3	1	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:4152946G>A	ENST00000404826.2	+	24	3599	c.3460G>A	c.(3460-3462)Gtt>Att	p.V1154I	SDK1_ENST00000389531.3_Missense_Mutation_p.V1154I	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1154	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTGAACATTGTTGGGCCGAG	0.542																																																	0													187	197	193					7																	4152946		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3460G>A	7.37:g.4152946G>A	ENSP00000385899:p.Val1154Ile		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1154I	ENST00000404826.2	37	c.3460	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627643	0.87560	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.57752	0.38;0.38	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000014	T	0.72137	0.3423	M	0.66560	2.04	0.58432	D	0.999998	P;D	0.54397	0.462;0.966	B;D	0.75020	0.417;0.985	T	0.74783	-0.3548	10	0.72032	D	0.01	.	18.8007	0.92015	0.0:0.0:1.0:0.0	.	1154;1154	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	I	1154	ENSP00000385899:V1154I;ENSP00000374182:V1154I	ENSP00000374182:V1154I	V	+	1	0	SDK1	4119472	1.000000	0.71417	0.132000	0.22025	0.775000	0.43874	9.315000	0.96313	2.437000	0.82529	0.655000	0.94253	GTT	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.542	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	72	0	G	NM_152744		4152946	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.996	A	A	4152946	G	A	4152946	3	1	91	1	0	0	0	0	1	0	0	0	14013	1377	48	3	3554	3	SDK1	7	4152946	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1176195	4152946	154985717	167	26240											
PMS2	5395	genome.wustl.edu	37	chr7	6035236	6035236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactccttccaactccatGcgtgcattgtgaaatgaaac	12	11	7	11	1	0	3	0	3	0	0	3	3	3	3	3	0	5	1	3	0	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:6035236G>C	ENST00000265849.7	-	8	937	c.832C>G	c.(832-834)Cat>Gat	p.H278D	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.H172D|PMS2_ENST00000406569.3_Missense_Mutation_p.H278D|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	278					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CCAACTCCATGCGTGCATTGT	0.398			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"Hereditary non-polyposis colorectal cancer, Turcot syndrome"	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													134	119	124					7																	6035236		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"postmeiotic segregation increased (S. cerevisiae) 2"	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.832C>G	7.37:g.6035236G>C	ENSP00000265849:p.His278Asp		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.H278D	ENST00000265849.7	37	c.832	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	g	14.70	2.613044	0.46631	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;T	0.81163	-1.46;-1.46;-1.46	5.85	5.85	0.93711	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.299910	0.36066	N	0.002808	D	0.88548	0.6466	M	0.85197	2.74	0.80722	D	1	P;D;P	0.53885	0.713;0.963;0.907	P;P;B	0.52514	0.54;0.701;0.391	D	0.88950	0.3386	10	0.54805	T	0.06	-9.9971	20.2225	0.98327	0.0:0.0:1.0:0.0	.	278;278;172	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	D	278;231;172;278	ENSP00000265849:H278D;ENSP00000392843:H172D;ENSP00000384308:H278D	ENSP00000265849:H278D	H	-	1	0	PMS2	6001762	1.000000	0.71417	0.559000	0.28332	0.088000	0.18126	9.439000	0.97543	2.778000	0.95560	0.650000	0.86243	CAT	PMS2	-	pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N	ENSG00000122512		0.398	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	-	0	34	0	G	NM_000535		6035236	-1	tier1	-	no_errors	ENST00000265849	ensembl	human	known	74_37	missense	41.18	10	7	SNP	1.000	C	C	6035236	G	C	6035236	3	2	91	1	0	0	0	0	1	0	0	0	12182	1319	46	5	1788	5	PMS2	7	6035236	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1882290	6035236	153103427	168	26241											
AQP1	358	genome.wustl.edu	37	chr7	30951715	30951715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcatcgccacgctggCgcagagtgtgggccacatca	8	6	14	13	3	1	2	1	1	0	1	2	2	1	2	2	2	1	4	2	2	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:30951715C>T	ENST00000311813.4	+	1	246	c.191C>T	c.(190-192)gCg>gTg	p.A64V	AQP1_ENST00000434909.2_Missense_Mutation_p.A124V|AQP1_ENST00000509504.1_Missense_Mutation_p.A241V	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	64					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	GCCACGCTGGCGCAGAGTGTG	0.642																																																	0													43	44	44					7																	30951715		2203	4300	6503	SO:0001583	missense	0			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"Ion channels / Aquaporins", "Blood group antigens"	633	protein-coding gene	gene with protein product		107776	"Colton blood group", "aquaporin 1 (channel-forming integral protein, 28kDa)", "aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)", "aquaporin 1"	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.191C>T	7.37:g.30951715C>T	ENSP00000311165:p.Ala64Val		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_1,tigrfam_MIP	p.A124V	ENST00000311813.4	37	c.371	CCDS5431.1	7	.	.	.	.	.	.	.	.	.	.	C	7.588	0.670137	0.14776	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000311813;ENST00000413400;ENST00000509504	D;D;D	0.82711	-1.64;-1.64;-1.64	4.46	4.46	0.54185	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	N	0.21240	0.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.961	T	0.75833	-0.3178	10	0.02654	T	1	-2.1271	15.0132	0.71565	0.0:1.0:0.0:0.0	.	124;64	B4E220;P29972	.;AQP1_HUMAN	V	124;64;64;241	ENSP00000395059:A124V;ENSP00000311165:A64V;ENSP00000421315:A241V	ENSP00000311165:A64V	A	+	2	0	RP5-877J2.1;AQP1	30918240	1.000000	0.71417	1.000000	0.80357	0.080000	0.17528	3.905000	0.56333	2.490000	0.84030	0.561000	0.74099	GCG	AQP1	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000240583		0.642	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP1	HGNC	protein_coding	OTTHUMT00000215002.3		0	24	0	C	NM_000385		30951715	1			no_errors	ENST00000434909	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	T	T	30951715	C	T	30951715	3	4	91	1	0	0	0	0	1	0	0	0	821	768	27	1	193	1	AQP1	7	30951715	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	24916479	30951715	128186948	169	26242											
AVL9	23080	genome.wustl.edu	37	chr7	32584374	32584374	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttggtatctcttgctatCgacaaattgaagccaaggta	12	14	8	7	1	1	1	0	1	1	0	3	2	1	1	1	2	2	3	1	2	7	7	rs372188373		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:32584374C>T	ENST00000318709.4	+	3	504	c.283C>T	c.(283-285)Cga>Tga	p.R95*	AVL9_ENST00000409301.1_Nonsense_Mutation_p.R95*|AVL9_ENST00000404479.1_Nonsense_Mutation_p.R95*	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	95					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTCTTGCTATCGACAAATTGA	0.353																																																	0								C	stop/ARG	0,4406		0,0,2203	98	90	92		283	4	1	7		92	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	AVL9	NM_015060.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		95/649	32584374	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"KIAA0241"	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.283C>T	7.37:g.32584374C>T	ENSP00000315568:p.Arg95*		Q92573	Nonsense_Mutation	SNP	pfam_ABL9/DENND6_dom,pfam_DUF2347	p.R95*	ENST00000318709.4	37	c.283	CCDS34613.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.423023	0.98275	0.0	1.16E-4	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	.	.	.	5.94	3.97	0.46021	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.2342	10.3472	0.43913	0.2722:0.6314:0.0964:0.0	.	.	.	.	X	95;95;95;95;26	.	ENSP00000315568:R95X	R	+	1	2	AVL9	32550899	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	2.261000	0.43276	1.505000	0.48720	0.557000	0.71058	CGA	AVL9	-	pfam_ABL9/DENND6_dom,pfam_DUF2347	ENSG00000105778		0.353	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	AVL9	HGNC	protein_coding	OTTHUMT00000328643.1	-	0	43	0	C	NM_015060		32584374	1	tier1	-	no_errors	ENST00000404479	ensembl	human	known	74_37	nonsense	21.43	22	6	SNP	1.000	T	T	32584374	C	T	32584374	4	4	91	1	0	0	0	0	0	1	0	0	1229	876	31	1	293	1	AVL9	7	32584374	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1632659	32584374	126554289	170	26243											
BBS9	27241	genome.wustl.edu	37	chr7	33195308	33195308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactttgtgtctactctGtctcaggtaagaaatatttt	12	16	7	6	0	3	1	1	0	3	1	4	2	3	1	0	1	2	1	0	1	6	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:33195308G>T	ENST00000242067.6	+	4	843	c.322G>T	c.(322-324)Gtc>Ttc	p.V108F	BBS9_ENST00000350941.3_Missense_Mutation_p.V108F|BBS9_ENST00000354265.4_Missense_Mutation_p.V108F|BBS9_ENST00000425508.2_Missense_Mutation_p.V63F|BBS9_ENST00000396127.2_Missense_Mutation_p.V108F|BBS9_ENST00000355070.2_Missense_Mutation_p.V108F	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	108					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.V108F(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGTCTACTCTGTCTCAGGTAA	0.318									Bardet-Biedl syndrome																																								2	Substitution - Missense(2)	lung(2)											71	70	70					7																	33195308		2201	4297	6498	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"parathyroid hormone responsive B1 gene"	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.322G>T	7.37:g.33195308G>T	ENSP00000242067:p.Val108Phe		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.V108F	ENST00000242067.6	37	c.322	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.226045	0.79576	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508	D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.95	4.95	0.65309	.	0.121927	0.53938	D	0.000043	D	0.91723	0.7383	M	0.72118	2.19	0.50313	D	0.999867	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.962;0.989;0.994;0.989;0.989	D	0.91134	0.4940	9	.	.	.	-14.82	18.6673	0.91495	0.0:0.0:1.0:0.0	.	108;108;108;108;108	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	F	108;108;108;108;108;108;108;63	ENSP00000242067:V108F;ENSP00000313122:V108F;ENSP00000379433:V108F;ENSP00000347182:V108F;ENSP00000346214:V108F;ENSP00000405151:V63F	.	V	+	1	0	BBS9	33161833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.678000	0.46900	2.682000	0.91365	0.557000	0.71058	GTC	BBS9	-	NULL	ENSG00000122507		0.318	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1		0	38	0	G			33195308	1			no_errors	ENST00000242067	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	33195308	G	T	33195308	3	4	91	1	0	0	0	0	1	0	0	0	1343	1377	48	3	332	3	BBS9	7	33195308	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	610934	33195308	125943355	171	26244											
SEPT7	989	genome.wustl.edu	37	chr7	35872451	35872452	+	Frame_Shift_Ins	INS	-	-	A																															gtgggatttgccaatctcccINSaaatcaagtatacagaaaat																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:35872451_35872452insA	ENST00000399034.2	+	3	306_307	c.113_114insA	c.(112-117)ccaaatfs	p.N39fs	SEPT7_ENST00000469679.2_Frame_Shift_Ins_p.N37fs|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000494488.2_Frame_Shift_Ins_p.N24fs|SEPT7_ENST00000350320.6_Frame_Shift_Ins_p.N37fs|SEPT7_ENST00000399035.3_Frame_Shift_Ins_p.N37fs			Q16181	SEPT7_HUMAN	septin 7	38					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein heterooligomerization (GO:0051291)|regulation of embryonic cell shape (GO:0016476)	actin cytoskeleton (GO:0015629)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|septin complex (GO:0031105)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GCCAATCTCCCAAATCAAGTAT	0.366																																																	0																																										SO:0001589	frameshift_variant	0			S72008	CCDS75582.1	7p14.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000122545	ENSG00000122545		"Septins"	1717	protein-coding gene	gene with protein product		603151	"CDC10 cell division cycle 10 homolog (S. cerevisiae)"	CDC10		8037772	Standard	NM_001788		Approved	CDC3, SEPT7A	uc011kau.2	Q16181	OTTHUMG00000155063	ENST00000399034.2:c.116dupA	7.37:g.35872454_35872454dupA	ENSP00000381992:p.Asn39fs		Q52M76|Q6NX50	Frame_Shift_Ins	INS	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin7	p.N39fs	ENST00000399034.2	37	c.113_114		7																																																																																			SEPT7	-	pirsf_Septin	ENSG00000122545		0.366	SEPT7-202	KNOWN	basic|appris_candidate_longest	protein_coding	SEPT7	HGNC	protein_coding			0	38	0	-	NM_001788		35872452	1	tier1		no_errors	ENST00000399034	ensembl	human	known	74_37	frame_shift_ins	5.13	37	2	INS	1.000:1.000	A	A	35872452	-	A	35872451	7	5	91	1	0	1	1	0	0	0	0	0	14114	594	21	0	114	0	SEPT7	7	35872451	Frame_Shift_Ins	INS	-	TCGA-L5-A8NS-01A-12D-A37C-09	2677143	35872451	123266212	172	26245											
EPDR1	54749	genome.wustl.edu	37	chr7	37960276	37960276	+	5'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagaaggcagtggcagcAggcagtggcagcaggcagtg	10	3	19	9	1	0	1	0	0	0	1	0	1	0	1	0	6	2	8	0	6	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:37960276A>G	ENST00000199448.4	+	0	114				EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000559325.1_Missense_Mutation_p.Q32R|EPDR1_ENST00000423717.1_5'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAGTGGCAGCAGGCAGTGGCA	0.642																																																	0													20	24	23					7																	37960276		2203	4299	6502	SO:0001623	5_prime_UTR_variant	0			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"ependymin related protein 1 (zebrafish)"			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-266A>G	7.37:g.37960276A>G			A8K4C0|C9JYS3|Q06BL0|Q99M77	Missense_Mutation	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.Q32R	ENST00000199448.4	37	c.95	CCDS5454.2	7	.	.	.	.	.	.	.	.	.	.	A	8.338	0.828048	0.16749	.	.	ENSG00000086289	ENST00000199448;ENST00000423717	.	.	.	0.14	0.14	0.14804	.	.	.	.	.	T	0.18800	0.0451	N	0.08118	0	0.18873	N	0.999985	.	.	.	.	.	.	T	0.23762	-1.0179	5	0.56958	D	0.05	.	.	.	.	.	32	A4D1W8	.	R	32;6	.	ENSP00000199448:Q32R	Q	+	2	0	EPDR1	37926801	0.087000	0.21565	0.076000	0.20297	0.142000	0.21351	0.222000	0.17699	0.157000	0.19338	0.155000	0.16302	CAG	EPDR1	-	NULL	ENSG00000086289		0.642	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	-	0	76	0	A	NM_017549		37960276	1	tier1	-	no_errors	ENST00000559325	ensembl	human	known	74_37	missense	11.29	55	7	SNP	0.086	G	G	37960276	A	G	37960276	1	3	91	0	1	0	0	0	0	0	0	0	5179	188	7	4		4	EPDR1	7	37960276	5'UTR	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2087825	37960276	121178387	173	26246											
CDK13	8621	genome.wustl.edu	37	chr7	40127865	40127865	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggatgacagcagaaccaAcacaccccagggtgtgctgc	11	6	11	13	0	0	2	0	1	0	1	0	3	0	3	3	2	5	2	3	2	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:40127865A>C	ENST00000181839.4	+	12	3775	c.3170A>C	c.(3169-3171)aAc>aCc	p.N1057T	CDK13_ENST00000340829.5_Missense_Mutation_p.N1057T	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1057					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGCAGAACCAACACACCCCAG	0.502																																																	0													88	78	82					7																	40127865		2203	4300	6503	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.3170A>C	7.37:g.40127865A>C	ENSP00000181839:p.Asn1057Thr		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N1057T	ENST00000181839.4	37	c.3170	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	A	15.45	2.837025	0.50951	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.52295	0.67;0.67	5.25	-5.49	0.02584	.	.	.	.	.	T	0.33265	0.0857	L	0.39898	1.24	0.34400	D	0.695148	B;B	0.30686	0.29;0.035	B;B	0.26094	0.066;0.029	T	0.18587	-1.0332	8	.	.	.	-2.9946	14.6198	0.68576	0.5983:0.0:0.4017:0.0	.	1057;1057	Q14004-2;Q14004	.;CDK13_HUMAN	T	1057	ENSP00000181839:N1057T;ENSP00000340557:N1057T	.	N	+	2	0	CDK13	40094390	0.980000	0.34600	0.491000	0.27477	0.968000	0.65278	0.424000	0.21330	-1.027000	0.03325	0.528000	0.53228	AAC	CDK13	-	NULL	ENSG00000065883		0.502	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2		0	51	0	A	NM_003718		40127865	1			no_errors	ENST00000181839	ensembl	human	known	74_37	missense	12.50	21	3	SNP	0.990	C	C	40127865	A	C	40127865	3	2	91	1	0	0	0	0	1	0	0	0	3136	43	2	4	3216	4	CDK13	7	40127865	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2167589	40127865	119010798	174	26247											
AEBP1	165	genome.wustl.edu	37	chr7	44151566	44151566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccgcgatgggaacccaCgtgtgcgcagcctggtgcag	8	6	15	12	4	0	0	0	0	0	0	0	2	0	1	3	2	5	3	3	2	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:44151566C>A	ENST00000223357.3	+	16	2259	c.1954C>A	c.(1954-1956)Cgt>Agt	p.R652S	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.R227S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	652	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGGAACCCACGTGTGCGCAG	0.627																																																	0													78	68	72					7																	44151566		2203	4300	6503	SO:0001583	missense	0			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"aortic carboxypeptidase-like protein", "adipocyte enhancer binding protein 1"	602981	"AE-binding protein 1"			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1954C>A	7.37:g.44151566C>A	ENSP00000223357:p.Arg652Ser		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.R652S	ENST00000223357.3	37	c.1954	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703828	0.68501	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.10960	2.82;2.82	5.42	4.52	0.55395	Peptidase M14, carboxypeptidase A (2);	0.056020	0.64402	D	0.000002	T	0.34454	0.0898	M	0.77313	2.365	0.51233	D	0.999914	D;D	0.89917	0.999;1.0	D;D	0.91635	0.996;0.999	T	0.18713	-1.0328	10	0.87932	D	0	-18.6826	14.7318	0.69388	0.1506:0.8494:0.0:0.0	.	227;652	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	S	652;227	ENSP00000223357:R652S;ENSP00000398878:R227S	ENSP00000223357:R652S	R	+	1	0	AEBP1	44118091	0.976000	0.34144	0.346000	0.25655	0.961000	0.63080	2.550000	0.45811	1.221000	0.43506	0.462000	0.41574	CGT	AEBP1	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000106624		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2		0	40	0	C	NM_001129		44151566	1			no_errors	ENST00000223357	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.913	A	A	44151566	C	A	44151566	3	1	91	1	0	0	0	0	1	0	0	0	349	536	19	2	2016	2	AEBP1	7	44151566	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4023701	44151566	114987097	175	26248											
ABCA13	154664	genome.wustl.edu	37	chr7	48287988	48287988	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggagctgatccctcTcctgagaatgatgtcttttc	6	14	10	11	0	2	3	0	3	2	1	5	5	3	4	2	1	2	2	2	1	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:48287988T>C	ENST00000435803.1	+	14	1836	c.1812T>C	c.(1810-1812)tcT>tcC	p.S604S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	604					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGATCCCTCTCCTGAGAATG	0.463																																																	0													145	140	141					7																	48287988		1957	4146	6103	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1812T>C	7.37:g.48287988T>C			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S604	ENST00000435803.1	37	c.1812	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.463	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	36	0	T	NM_152701		48287988	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	silent	25.71	26	9	SNP	0.000	C	C	48287988	T	C	48287988	2	2	91	1	0	0	0	0	0	0	0	1	31	1538	54	4		4	ABCA13	7	48287988	Silent	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	4136422	48287988	110850675	176	26249											
WBSCR17	64409	genome.wustl.edu	37	chr7	71036303	71036303	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggctgctcgttcgtggtCaacaggaagttcttcggtga	8	12	13	8	3	2	1	1	1	1	0	5	2	2	2	0	4	2	4	0	4	3	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:71036303C>G	ENST00000333538.5	+	6	1630	c.996C>G	c.(994-996)gtC>gtG	p.V332V	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	332	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTTCGTGGTCAACAGGAAGT	0.507																																																	0													206	194	198					7																	71036303		2203	4300	6503	SO:0001819	synonymous_variant	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.996C>G	7.37:g.71036303C>G			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V332	ENST00000333538.5	37	c.996	CCDS5540.1	7																																																																																			WBSCR17	-	NULL	ENSG00000185274		0.507	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1		0	85	0	C	NM_022479		71036303	1			no_errors	ENST00000333538	ensembl	human	known	74_37	silent	5.71	33	2	SNP	1.000	G	G	71036303	C	G	71036303	2	3	91	1	0	0	0	0	0	0	0	1	17313	813	29	5		5	WBSCR17	7	71036303	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	22748315	71036303	88102360	177	26250											
GTF2I	2969	genome.wustl.edu	37	chr7	74120764	74120764	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacccacagaagattctGgtatgtactagcacttttag	12	12	8	9	0	1	3	0	1	1	2	1	3	1	3	1	1	3	3	1	1	6	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:74120764G>T	ENST00000324896.4	+	8	1074	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C	AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Splice_Site_p.G229C|GTF2I_ENST00000443166.1_Splice_Site_p.G229C|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Splice_Site_p.G229C|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000346152.4_Splice_Site_p.G229C	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	229					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAGATTCTGGTATGTACTA	0.398																																																	0													116	107	110					7																	74120764		2203	4300	6503	SO:0001630	splice_region_variant	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"General transcription factors"	4659	protein-coding gene	gene with protein product		601679	"general transcription factor II, i"	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.685+1G>T	7.37:g.74120764G>T			O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.G229C	ENST00000324896.4	37	c.685	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110734	0.77210	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166	T;T;T;T;T	0.48201	1.36;1.37;1.38;1.4;0.82	5.41	5.41	0.78517	.	0.085953	0.49916	D	0.000137	T	0.65026	0.2652	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.915;0.946;0.996;0.961;0.998;0.993	T	0.67011	-0.5778	10	0.87932	D	0	-11.0065	17.7574	0.88453	0.0:0.0:1.0:0.0	.	229;229;229;229;229;229	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	C	229;224;229;229;229;229	ENSP00000322542:G229C;ENSP00000322671:G229C;ENSP00000322599:G229C;ENSP00000387651:G229C;ENSP00000404240:G229C	ENSP00000322542:G229C	G	+	1	0	GTF2I	73758700	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.388000	0.73195	2.537000	0.85549	0.561000	0.74099	GGC	GTF2I	-	pirsf_TF_II-I	ENSG00000077809		0.398	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	HGNC	protein_coding	OTTHUMT00000252708.1	-	0	82	0	G	NM_032999	Missense_Mutation	74120764	1	tier1	-	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	74120764	G	T	74120764	5	4	91	1	0	0	0	0	0	0	1	0	6894	1362	47	3	711	3	GTF2I	7	74120764	Splice_Site	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3084461	74120764	85017899	178	26251											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86556147	86556147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaggcggacaatccttcTtctctccagaagggggcaat	10	9	11	11	1	2	1	0	0	2	1	5	2	4	2	2	4	1	2	2	4	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:86556147T>C	ENST00000450689.2	-	9	1360	c.1175A>G	c.(1174-1176)aAg>aGg	p.K392R	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.K392R|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.K225R|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.K152R	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	392						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACAATCCTTCTTCTCTCCAGA	0.438																																																	0													126	126	126					7																	86556147		2203	4300	6503	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1175A>G	7.37:g.86556147T>C	ENSP00000413445:p.Lys392Arg		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.K392R	ENST00000450689.2	37	c.1175	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816461	0.32145	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.30182	1.54;1.54;1.54;1.56	5.53	5.53	0.82687	Growth factor, receptor (1);	0.163737	0.51477	D	0.000086	T	0.18257	0.0438	N	0.20685	0.6	0.41127	D	0.985851	B;B;B	0.19073	0.033;0.001;0.001	B;B;B	0.19148	0.024;0.003;0.003	T	0.12451	-1.0547	10	0.17369	T	0.5	.	9.2502	0.37551	0.0:0.089:0.0:0.911	.	392;152;225	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	R	392;152;392;225	ENSP00000413445:K392R;ENSP00000297222:K152R;ENSP00000397377:K392R;ENSP00000402390:K225R	ENSP00000297222:K152R	K	-	2	0	KIAA1324L	86394083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.247000	0.43151	2.098000	0.63641	0.460000	0.39030	AAG	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.438	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	70	0	T	NM_152748		86556147	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	C	C	86556147	T	C	86556147	3	2	91	1	0	0	0	0	1	0	0	0	8251	1609	56	4	1970	4	KIAA1324L	7	86556147	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	12435383	86556147	72582516	179	26252											
C7orf63	79846	genome.wustl.edu	37	chr7	89912265	89912265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgaggcaacaagtttGcccagatgcgttacagttta	10	10	12	9	2	0	1	0	0	0	1	0	2	0	1	2	2	4	4	2	2	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:89912265G>C	ENST00000389297.4	+	13	1683	c.1432G>C	c.(1432-1434)Gcc>Ccc	p.A478P	C7orf63_ENST00000497910.1_Missense_Mutation_p.A460P|C7orf63_ENST00000316089.8_Missense_Mutation_p.A478P	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		478										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAACAAGTTTGCCCAGATGCG	0.393																																																	0													114	106	108					7																	89912265		1900	4107	6007	SO:0001583	missense	0																														ENST00000389297.4:c.1432G>C	7.37:g.89912265G>C	ENSP00000373948:p.Ala478Pro		A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A478P	ENST00000389297.4	37	c.1432	CCDS43613.2	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321287	0.81580	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.39	5.39	0.77823	Armadillo-type fold (1);	0.108387	0.64402	D	0.000009	T	0.62221	0.2410	M	0.79475	2.455	0.48185	D	0.999602	D;B;B	0.89917	1.0;0.356;0.356	D;B;B	0.87578	0.998;0.231;0.128	T	0.65792	-0.6082	10	0.66056	D	0.02	-6.8081	16.1744	0.81842	0.0:0.1331:0.8669:0.0	.	460;478;478	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	P	478;478;460;361;61	ENSP00000373948:A478P;ENSP00000321753:A478P;ENSP00000419549:A460P;ENSP00000392365:A361P;ENSP00000391571:A61P	ENSP00000321753:A478P	A	+	1	0	C7orf63	89750201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.657000	0.54474	2.513000	0.84729	0.591000	0.81541	GCC	C7orf63	-	superfamily_ARM-type_fold	ENSG00000105792		0.393	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	-	0	93	0	G			89912265	1	tier1	-	no_errors	ENST00000389297	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	C	C	89912265	G	C	89912265	3	2	91	1	0	0	0	0	1	0	0	0	2416	1319	46	5	1482	5	C7orf63	7	89912265	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3356118	89912265	69226398	180	26253											
AKAP9	10142	genome.wustl.edu	37	chr7	91625013	91625013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcactcatcaacagcagCttgaagaacaagaccactta	15	8	5	13	0	3	3	3	1	0	2	4	3	4	3	2	0	4	2	2	0	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:91625013C>G	ENST00000359028.2	+	8	1090	c.865C>G	c.(865-867)Ctt>Gtt	p.L289V	AKAP9_ENST00000358100.2_Missense_Mutation_p.L289V|AKAP9_ENST00000356239.3_Missense_Mutation_p.L277V|AKAP9_ENST00000394564.1_Missense_Mutation_p.L277V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	289	Gln-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCAACAGCAGCTTGAAGAACA	0.363			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													91	82	85					7																	91625013		2203	4300	6503	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.865C>G	7.37:g.91625013C>G	ENSP00000351922:p.Leu289Val		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.L289V	ENST00000359028.2	37	c.865		7	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489179	0.44249	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565;ENST00000394564;ENST00000438114	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	5.1	4.22	0.49857	.	0.000000	0.30101	N	0.010412	T	0.30510	0.0767	L	0.47716	1.5	0.39048	D	0.960267	P;D;P;P	0.61080	0.698;0.989;0.946;0.884	P;P;P;P	0.59546	0.561;0.859;0.781;0.636	T	0.10019	-1.0648	10	0.66056	D	0.02	.	13.8279	0.63361	0.0:0.9257:0.0:0.0743	.	277;277;289;277	Q99996-2;Q99996-3;A4D1E4;Q6PJH3	.;.;.;.	V	277;289;289;289;289;277;228	ENSP00000348573:L277V;ENSP00000351922:L289V;ENSP00000350813:L289V;ENSP00000378065:L277V;ENSP00000391704:L228V	ENSP00000348573:L277V	L	+	1	0	AKAP9	91462949	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.816000	0.38992	1.287000	0.44583	0.655000	0.94253	CTT	AKAP9	-	NULL	ENSG00000127914		0.363	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	31	0	C	NM_005751		91625013	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	48.00	13	12	SNP	1.000	G	G	91625013	C	G	91625013	3	3	91	1	0	0	0	0	1	0	0	0	459	797	28	5	855	5	AKAP9	7	91625013	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1712748	91625013	67513650	181	26254											
AKAP9	10142	genome.wustl.edu	37	chr7	91641760	91641760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaatgatttaaggctacaGatggaagcccaacgcatttg	15	9	10	7	1	0	3	0	1	0	2	0	4	0	4	1	2	3	2	1	2	6	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:91641760G>C	ENST00000359028.2	+	10	3597	c.3372G>C	c.(3370-3372)caG>caC	p.Q1124H	AKAP9_ENST00000358100.2_Missense_Mutation_p.Q1124H|AKAP9_ENST00000356239.3_Missense_Mutation_p.Q1112H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1124					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAAGGCTACAGATGGAAGCCC	0.308			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													61	63	62					7																	91641760		2203	4300	6503	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3372G>C	7.37:g.91641760G>C	ENSP00000351922:p.Gln1124His		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.Q1124H	ENST00000359028.2	37	c.3372		7	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981477	0.34942	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.03982	3.75;3.75;3.74	5.39	0.542	0.17174	.	0.000000	0.35124	N	0.003430	T	0.07999	0.0200	L	0.56769	1.78	0.34056	D	0.656775	P;P;P;D	0.56521	0.89;0.933;0.933;0.976	B;P;P;P	0.50049	0.425;0.629;0.629;0.629	T	0.21724	-1.0237	10	0.87932	D	0	.	6.0122	0.19582	0.3915:0.0:0.4946:0.114	.	1124;1112;1112;1124	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	H	1112;1124;1124;1124;1124	ENSP00000348573:Q1112H;ENSP00000351922:Q1124H;ENSP00000350813:Q1124H	ENSP00000348573:Q1112H	Q	+	3	2	AKAP9	91479696	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	1.228000	0.32588	-0.118000	0.11851	-0.812000	0.03155	CAG	AKAP9	-	NULL	ENSG00000127914		0.308	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	36	0	G	NM_005751		91641760	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.997	C	C	91641760	G	C	91641760	3	2	91	1	0	0	0	0	1	0	0	0	459	933	33	5	3370	5	AKAP9	7	91641760	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	16747	91641760	67496903	182	26255											
AKAP9	10142	genome.wustl.edu	37	chr7	91708688	91708688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatgaccttcatgaaaaAtgtacttaaagaaaccaatt	20	10	5	6	0	1	4	1	2	0	2	1	4	1	4	2	0	2	1	2	0	8	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:91708688A>G	ENST00000359028.2	+	32	7502	c.7277A>G	c.(7276-7278)aAt>aGt	p.N2426S	AKAP9_ENST00000358100.2_Missense_Mutation_p.N2426S|AKAP9_ENST00000356239.3_Missense_Mutation_p.N2414S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2426	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCATGAAAAATGTACTTAAA	0.353			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													43	46	45					7																	91708688		2201	4299	6500	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7277A>G	7.37:g.91708688A>G	ENSP00000351922:p.Asn2426Ser		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.N2426S	ENST00000359028.2	37	c.7277		7	.	.	.	.	.	.	.	.	.	.	A	9.672	1.146995	0.21288	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03745	3.9;3.9;3.88;3.82	5.16	1.17	0.20885	.	0.000000	0.39210	N	0.001434	T	0.06005	0.0156	M	0.70595	2.14	0.25618	N	0.98643	B;P;P;B	0.46859	0.041;0.817;0.885;0.023	B;B;P;B	0.48304	0.018;0.369;0.573;0.018	T	0.23940	-1.0174	10	0.11485	T	0.65	.	5.9471	0.19225	0.6111:0.2455:0.1434:0.0	.	2418;2426;2414;2406	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	S	2414;2426;2426;2418;260	ENSP00000348573:N2414S;ENSP00000351922:N2426S;ENSP00000350813:N2426S;ENSP00000378042:N260S	ENSP00000348573:N2414S	N	+	2	0	AKAP9	91546624	1.000000	0.71417	0.984000	0.44739	0.177000	0.22998	2.040000	0.41203	0.375000	0.24679	0.477000	0.44152	AAT	AKAP9	-	NULL	ENSG00000127914		0.353	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	25	0	A	NM_005751		91708688	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	G	G	91708688	A	G	91708688	3	3	91	1	0	0	0	0	1	0	0	0	459	101	4	4	7363	4	AKAP9	7	91708688	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	66928	91708688	67429975	183	26256											
DYNC1I1	1780	genome.wustl.edu	37	chr7	95616416	95616416	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatcgtcagttctatgaTgaacattggtccaagcatcg	11	13	8	9	2	3	2	2	2	1	0	6	2	4	2	1	1	2	2	1	1	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:95616416T>C	ENST00000324972.6	+	9	1036	c.843T>C	c.(841-843)gaT>gaC	p.D281D	DYNC1I1_ENST00000537881.1_Silent_p.D244D|DYNC1I1_ENST00000457059.1_Silent_p.D264D|DYNC1I1_ENST00000359388.4_Silent_p.D244D|DYNC1I1_ENST00000437599.1_Silent_p.D261D|DYNC1I1_ENST00000447467.2_Silent_p.D264D	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	281					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGTTCTATGATGAACATTGGT	0.463																																																	0													288	279	282					7																	95616416		2203	4300	6503	SO:0001819	synonymous_variant	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.843T>C	7.37:g.95616416T>C			B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D281	ENST00000324972.6	37	c.843	CCDS5644.1	7																																																																																			DYNC1I1	-	superfamily_WD40_repeat_dom	ENSG00000158560		0.463	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	-	0	60	0	T	NM_004411		95616416	1	tier1	-	no_errors	ENST00000324972	ensembl	human	known	74_37	silent	19.35	25	6	SNP	1.000	C	C	95616416	T	C	95616416	2	2	91	1	0	0	0	0	0	0	0	1	4856	1461	51	4		4	DYNC1I1	7	95616416	Silent	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	3907728	95616416	63522247	184	26257											
TRRAP	8295	genome.wustl.edu	37	chr7	98515105	98515105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggacctctttgtggagCtgtgtctcaccgtccctgtg	5	13	12	11	1	2	1	1	1	2	0	4	3	3	3	3	2	1	1	3	2	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:98515105C>G	ENST00000359863.4	+	20	2634	c.2425C>G	c.(2425-2427)Ctg>Gtg	p.L809V	TRRAP_ENST00000355540.3_Missense_Mutation_p.L809V|TRRAP_ENST00000446306.3_Missense_Mutation_p.L808V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	809					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTTGTGGAGCTGTGTCTCAC	0.567																																																	0													143	121	128					7																	98515105		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2425C>G	7.37:g.98515105C>G	ENSP00000352925:p.Leu809Val		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L809V	ENST00000359863.4	37	c.2425	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.023485|4.023485	0.75390|0.75390	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.71817|.	3.07;-0.6|.	5.56|5.56	4.68|4.68	0.58851|0.58851	Armadillo-like helical (1);Armadillo-type fold (2);|.	0.000000|.	0.64402|.	D|.	0.000006|.	D|D	0.82981|0.82981	0.5155|0.5155	M|M	0.90425|0.90425	3.115|3.115	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.999;0.996|.	D|D	0.86403|0.86403	0.1743|0.1743	10|5	0.87932|.	D|.	0|.	.|.	14.7507|14.7507	0.69522|0.69522	0.0:0.9302:0.0:0.0698|0.0:0.9302:0.0:0.0698	.|.	809;523;809|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	V|R	809;809;807|523	ENSP00000352925:L809V;ENSP00000347733:L809V|.	ENSP00000347733:L809V|.	L|S	+|+	1|3	2|2	TRRAP|TRRAP	98353041|98353041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	2.700000|2.700000	0.47085|0.47085	1.376000|1.376000	0.46267|0.46267	0.456000|0.456000	0.33151|0.33151	CTG|AGC	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	43	0	C	NM_003496		98515105	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	G	G	98515105	C	G	98515105	3	3	91	1	0	0	0	0	1	0	0	0	16649	796	28	5	2499	5	TRRAP	7	98515105	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2898689	98515105	60623558	185	26258											
MUC17	140453	genome.wustl.edu	37	chr7	100683000	100683000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtggccagttctgaggCtagcaccgtttcaacaactg	9	9	11	12	1	2	1	1	1	1	0	2	1	2	1	3	2	3	4	3	2	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:100683000C>T	ENST00000306151.4	+	3	8367	c.8303C>T	c.(8302-8304)gCt>gTt	p.A2768V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2768	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAGGCTAGCACCGTT	0.493																																																	0													255	247	250					7																	100683000		2203	4300	6503	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8303C>T	7.37:g.100683000C>T	ENSP00000302716:p.Ala2768Val		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.A2768V	ENST00000306151.4	37	c.8303	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557824	0.13436	.	.	ENSG00000169876	ENST00000306151	T	0.03801	3.8	0.778	-1.56	0.08532	.	.	.	.	.	T	0.05823	0.0152	L	0.34521	1.04	0.09310	N	1	D	0.57571	0.98	P	0.53988	0.739	T	0.32824	-0.9892	9	0.15952	T	0.53	.	5.2376	0.15454	0.0:0.5823:0.0:0.4177	.	2768	Q685J3	MUC17_HUMAN	V	2768	ENSP00000302716:A2768V	ENSP00000302716:A2768V	A	+	2	0	MUC17	100469720	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.027000	0.12371	-0.665000	0.05317	-1.404000	0.01136	GCT	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0	75	0	C	NM_001040105		100683000	1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.000	T	T	100683000	C	T	100683000	3	4	91	1	0	0	0	0	1	0	0	0	10012	797	28	3	8313	3	MUC17	7	100683000	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2167895	100683000	58455663	186	26259											
FBXL13	222235	genome.wustl.edu	37	chr7	102667940	102667940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtcttgctgtattccGccattttgttaggataatgg	7	18	9	7	1	1	0	0	0	1	0	2	1	2	1	2	2	1	3	2	2	4	8	rs115245242	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:102667940G>A	ENST00000313221.4	-	5	709	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	FBXL13_ENST00000393772.2_Missense_Mutation_p.R95W|FBXL13_ENST00000379305.3_Missense_Mutation_p.R95W|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000379306.3_Missense_Mutation_p.R95W|FBXL13_ENST00000379308.3_Missense_Mutation_p.R95W|FBXL13_ENST00000455112.2_Missense_Mutation_p.R95W|FBXL13_ENST00000456695.1_Missense_Mutation_p.R95W|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000436908.1_Missense_Mutation_p.R95W	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	95										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GCTGTATTCCGCCATTTTGTT	0.299													G|||	3	0.000599042	0.0023	0	5008	,	,		16853	0		0	False		,,,				2504	0																0													138	125	129					7																	102667940		2203	4299	6502	SO:0001583	missense	0			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"F-boxes / Leucine-rich repeats"	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.283C>T	7.37:g.102667940G>A	ENSP00000321927:p.Arg95Trp		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.R95W	ENST00000313221.4	37	c.283	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640795	0.47153	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.05	-0.792	0.10925	.	1.235670	0.05902	N	0.630168	T	0.62660	0.2446	M	0.63428	1.95	0.19300	N	0.999978	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.62298	0.897;0.9;0.732	T	0.57780	-0.7752	10	0.72032	D	0.01	.	11.523	0.50562	0.0:0.0:0.229:0.771	.	95;95;95	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	W	95;95;95;22;95;95;95;95;95;185	ENSP00000377367:R95W;ENSP00000368610:R95W;ENSP00000368608:R95W;ENSP00000368607:R95W;ENSP00000388608:R95W;ENSP00000321927:R95W;ENSP00000409716:R95W;ENSP00000391550:R95W;ENSP00000390126:R185W	ENSP00000321927:R95W	R	-	1	2	FBXL13	102455176	0.279000	0.24239	0.058000	0.19502	0.040000	0.13550	0.163000	0.16520	-0.130000	0.11599	0.655000	0.94253	CGG	FBXL13	-	NULL	ENSG00000161040		0.299	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1		0	64	0	G	NM_145032		102667940	-1			no_errors	ENST00000313221	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.063	A	A	102667940	G	A	102667940	3	1	91	1	0	0	0	0	1	0	0	0	5731	1086	38	1	1988	1	FBXL13	7	102667940	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1984940	102667940	56470723	187	26260											
THAP5	168451	genome.wustl.edu	37	chr7	108206359	108206359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgatgtcaagagagtcaGgagtaaaatggtcactacat	15	10	10	6	0	4	2	3	1	1	1	4	4	4	3	0	2	1	1	0	2	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:108206359G>T	ENST00000415914.3	-	2	341	c.188C>A	c.(187-189)cCt>cAt	p.P63H	THAP5_ENST00000493722.1_Intron|THAP5_ENST00000438865.1_Intron|THAP5_ENST00000313516.5_Missense_Mutation_p.P21H	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	63					cell cycle (GO:0007049)|negative regulation of cell cycle (GO:0045786)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protease binding (GO:0002020)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						AAGAGAGTCAGGAGTAAAATG	0.378																																																	0													129	108	114					7																	108206359		692	1591	2283	SO:0001583	missense	0			AL833137	CCDS34734.2, CCDS47687.1	7q22.3	2013-01-25			ENSG00000177683	ENSG00000177683		"THAP (C2CH-type zinc finger) domain containing"	23188	protein-coding gene	gene with protein product		612534				12575992	Standard	NM_001287598		Approved	DKFZp313O1132	uc003vfm.3	Q7Z6K1	OTTHUMG00000154951	ENST00000415914.3:c.188C>A	7.37:g.108206359G>T	ENSP00000400500:p.Pro63His			Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.P63H	ENST00000415914.3	37	c.188	CCDS47687.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074795	0.76415	.	.	ENSG00000177683	ENST00000415914;ENST00000313516	D;D	0.96554	-4.05;-4.05	5.4	5.4	0.78164	Zinc finger, C2CH-type (4);	.	.	.	.	D	0.97983	0.9336	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97929	1.0319	8	.	.	.	.	18.5219	0.90956	0.0:0.0:1.0:0.0	.	63	Q7Z6K1	THAP5_HUMAN	H	63;21	ENSP00000400500:P63H;ENSP00000322440:P21H	.	P	-	2	0	THAP5	107993595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.936000	0.63506	2.696000	0.92011	0.655000	0.94253	CCT	THAP5	-	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	ENSG00000177683		0.378	THAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP5	HGNC	protein_coding	OTTHUMT00000337777.2	-	0	46	0	G	NM_182529		108206359	-1	tier1	-	no_errors	ENST00000415914	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	108206359	G	T	108206359	3	4	91	1	0	0	0	0	1	0	0	0	15894	1000	35	3	1007	3	THAP5	7	108206359	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5538419	108206359	50932304	188	26261											
MET	4233	genome.wustl.edu	37	chr7	116435832	116435832	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctacaacccgaatacTgcccagaccccttgtaagta	12	8	6	15	1	0	1	0	0	0	1	1	3	1	1	5	0	4	2	5	0	6	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:116435832T>A	ENST00000318493.6	+	20	4163	c.3976T>A	c.(3976-3978)Tgc>Agc	p.C1326S	MET_ENST00000539704.1_Missense_Mutation_p.C178S|MET_ENST00000397752.3_Missense_Mutation_p.C1308S			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACCCGAATACTGCCCAGACCC	0.438			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																												Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													147	143	145					7																	116435832		1875	4100	5975	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"hepatocyte growth factor receptor"	164860	"met proto-oncogene"			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3976T>A	7.37:g.116435832T>A	ENSP00000317272:p.Cys1326Ser	1473	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.C1326S	ENST00000318493.6	37	c.3976	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	T	27.1	4.802613	0.90623	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	D;D;D	0.83992	-1.79;-1.79;-1.79	5.72	5.72	0.89469	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91948	0.7450	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93104	0.6511	10	0.87932	D	0	.	16.2988	0.82793	0.0:0.0:0.0:1.0	.	1326;1308	P08581-2;P08581	.;MET_HUMAN	S	1308;1326;178	ENSP00000380860:C1308S;ENSP00000317272:C1326S;ENSP00000445020:C178S	ENSP00000317272:C1326S	C	+	1	0	MET	116223068	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.997000	0.88414	2.311000	0.77944	0.533000	0.62120	TGC	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105976		0.438	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	-	0	52	0	T			116435832	1	tier1	-	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	A	A	116435832	T	A	116435832	3	1	91	1	0	0	0	0	1	0	0	0	9523	1580	55	5	4050	5	MET	7	116435832	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	8229473	116435832	42702831	189	26262											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121650873	121650873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcttcaggctccagtccCgcaacttctgctatcccatt	7	13	6	15	1	3	0	1	0	2	0	6	1	6	0	3	1	2	3	3	1	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:121650873C>T	ENST00000393386.2	+	12	2184	c.1773C>T	c.(1771-1773)ccC>ccT	p.P591P	PTPRZ1_ENST00000449182.1_Silent_p.P591P	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	591					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCTCCAGTCCCGCAACTTCTG	0.398																																																	0													40	41	40					7																	121650873		2202	4300	6502	SO:0001819	synonymous_variant	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1773C>T	7.37:g.121650873C>T			A4D0W5|C9JFM0|O76043|Q9UDR6	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.P591	ENST00000393386.2	37	c.1773	CCDS34740.1	7																																																																																			PTPRZ1	-	NULL	ENSG00000106278		0.398	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	30	0	C	NM_002851		121650873	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.001	T	T	121650873	C	T	121650873	2	4	91	1	0	0	0	0	0	0	0	1	12859	639	23	1		1	PTPRZ1	7	121650873	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	5215041	121650873	37487790	190	26263											
FLNC	2318	genome.wustl.edu	37	chr7	128470943	128470943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaagcgcatgtaccgCaagttccatccgcgccccaa	11	5	9	16	4	0	1	0	0	0	1	2	1	2	1	6	0	3	4	6	0	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:128470943C>T	ENST00000325888.8	+	1	513	c.252C>T	c.(250-252)cgC>cgT	p.R84R	FLNC_ENST00000346177.6_Silent_p.R84R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	84	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCATGTACCGCAAGTTCCATC	0.642																																																	0													59	61	60					7																	128470943		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.252C>T	7.37:g.128470943C>T			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R84	ENST00000325888.8	37	c.252	CCDS43644.1	7																																																																																			FLNC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000128591		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	36	0	C			128470943	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	50.00	9	9	SNP	1.000	T	T	128470943	C	T	128470943	2	4	91	1	0	0	0	0	0	0	0	1	5957	697	25	3		3	FLNC	7	128470943	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6820070	128470943	30667720	191	26264											
FLNC	2318	genome.wustl.edu	37	chr7	128490861	128490861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgccctgcaggagaGgtgcggatgccctcggggaa	6	8	17	10	2	1	1	0	0	1	1	2	4	1	3	2	5	4	1	2	5	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:128490861G>C	ENST00000325888.8	+	33	5664	c.5403G>C	c.(5401-5403)gaG>gaC	p.E1801D	FLNC_ENST00000346177.6_Missense_Mutation_p.E1768D|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1801					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGCAGGAGAGGTGCGGATGC	0.632																																																	0													69	74	72					7																	128490861		2149	4229	6378	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5403G>C	7.37:g.128490861G>C	ENSP00000327145:p.Glu1801Asp		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1801D	ENST00000325888.8	37	c.5403	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577128	0.45902	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84944	-1.92;-1.92	5.34	3.5	0.40072	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	L	0.52759	1.655	0.41471	D	0.988101	P;B	0.48764	0.915;0.002	D;B	0.72075	0.976;0.037	D	0.86936	0.2076	10	0.52906	T	0.07	.	7.8525	0.29464	0.3149:0.0:0.6851:0.0	.	1768;1801	Q14315-2;Q14315	.;FLNC_HUMAN	D	1801;1768	ENSP00000327145:E1801D;ENSP00000344002:E1768D	ENSP00000327145:E1801D	E	+	3	2	FLNC	128278097	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	0.533000	0.23082	1.203000	0.43233	0.655000	0.94253	GAG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	18	0	G			128490861	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	C	C	128490861	G	C	128490861	3	2	91	1	0	0	0	0	1	0	0	0	5957	991	35	5	5533	5	FLNC	7	128490861	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	19918	128490861	30647802	192	26265											
FLNC	2318	genome.wustl.edu	37	chr7	128498574	128498574	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttcaaagtcaaggtcccTtgaatcccaaaagtgcctcc	11	9	6	15	0	2	1	2	1	0	0	5	1	5	1	5	1	1	0	5	1	5	2	rs374175186		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:128498574T>C	ENST00000325888.8	+	48	8436	c.8175T>C	c.(8173-8175)ccT>ccC	p.P2725P	FLNC_ENST00000346177.6_Silent_p.P2692P|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2725	Self-association site, tail. {ECO:0000250}.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGGTCCCTTGAATCCCAA	0.532																																																	0													71	84	80					7																	128498574		2037	4179	6216	SO:0001819	synonymous_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.8175T>C	7.37:g.128498574T>C			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P2725	ENST00000325888.8	37	c.8175	CCDS43644.1	7																																																																																			FLNC	-	smart_Filamin	ENSG00000128591		0.532	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0	44	0	T			128498574	1			no_errors	ENST00000325888	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.976	C	C	128498574	T	C	128498574	2	2	91	1	0	0	0	0	0	0	0	1	5957	1596	56	4		4	FLNC	7	128498574	Silent	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	7713	128498574	30640089	193	26266											
WDR91	29062	genome.wustl.edu	37	chr7	134891942	134891942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgcatcaaagttcaggAtcacagggactggtgcacga	12	7	11	11	2	3	0	3	0	0	0	4	3	4	2	1	3	1	3	1	3	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:134891942A>G	ENST00000354475.4	-	4	555	c.524T>C	c.(523-525)aTc>aCc	p.I175T	WDR91_ENST00000344400.5_Missense_Mutation_p.I175T|WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.I140T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	175										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAAGTTCAGGATCACAGGGAC	0.463																																																	0													89	81	84					7																	134891942		2203	4300	6503	SO:0001583	missense	0			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.524T>C	7.37:g.134891942A>G	ENSP00000346466:p.Ile175Thr		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I175T	ENST00000354475.4	37	c.524	CCDS34758.1	7	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891731	0.72524	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	D;D;D	0.91464	-2.85;-2.85;-2.85	5.87	5.87	0.94306	.	0.230036	0.46145	D	0.000305	D	0.89150	0.6633	M	0.66939	2.045	0.52501	D	0.999952	B	0.32717	0.381	B	0.25884	0.064	D	0.88800	0.3284	10	0.87932	D	0	-14.1854	16.332	0.83039	1.0:0.0:0.0:0.0	.	175	A4D1P6	WDR91_HUMAN	T	175;175;140	ENSP00000340877:I175T;ENSP00000346466:I175T;ENSP00000392555:I140T	ENSP00000340877:I175T	I	-	2	0	WDR91	134542482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.814000	0.91968	2.251000	0.74343	0.529000	0.55759	ATC	WDR91	-	NULL	ENSG00000105875		0.463	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1		0	47	0	A	NM_014149		134891942	-1			no_errors	ENST00000354475	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	G	G	134891942	A	G	134891942	3	3	91	1	0	0	0	0	1	0	0	0	17387	333	12	4	1767	4	WDR91	7	134891942	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	6393368	134891942	24246721	194	26267											
PIP	5304	genome.wustl.edu	37	chr7	142836654	142836654	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgatgttattcgggaattAggcatctgccctgatgatgc	8	14	12	7	1	1	3	0	3	1	0	2	4	1	4	1	2	2	3	1	2	3	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:142836654A>T	ENST00000291009.3	+	4	400	c.360A>T	c.(358-360)ttA>ttT	p.L120F		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	120					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TTCGGGAATTAGGCATCTGCC	0.453																																																	0													172	163	166					7																	142836654		2203	4299	6502	SO:0001583	missense	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"prolactin-inducible protein"	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.360A>T	7.37:g.142836654A>T	ENSP00000291009:p.Leu120Phe		A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.L120F	ENST00000291009.3	37	c.360	CCDS34768.1	7	.	.	.	.	.	.	.	.	.	.	A	11.83	1.755317	0.31046	.	.	ENSG00000159763	ENST00000291009	T	0.14640	2.49	4.78	-5.36	0.02689	.	2.647220	0.01594	N	0.021737	T	0.24431	0.0592	L	0.57536	1.79	0.09310	N	1	D	0.61697	0.99	P	0.57679	0.825	T	0.46076	-0.9217	10	0.52906	T	0.07	.	6.4326	0.21805	0.4144:0.0:0.4541:0.1315	.	120	P12273	PIP_HUMAN	F	120	ENSP00000291009:L120F	ENSP00000291009:L120F	L	+	3	2	PIP	142546776	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.499000	0.06413	-1.074000	0.03132	-0.250000	0.11733	TTA	PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.453	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	-	0	45	0	A	NM_002652		142836654	1	tier1	-	no_errors	ENST00000291009	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.000	T	T	142836654	A	T	142836654	3	4	91	1	0	0	0	0	1	0	0	0	11974	417	15	5	374	5	PIP	7	142836654	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7944712	142836654	16302009	195	26268											
OR6B1	135946	genome.wustl.edu	37	chr7	143701170	143701170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtatgcgggcagccatGtttctgatattccttgtggc	6	15	12	8	1	1	2	0	2	1	0	2	2	2	2	2	2	2	3	2	2	2	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr7:143701170G>T	ENST00000408922.2	+	1	149	c.81G>T	c.(79-81)atG>atT	p.M27I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGGCAGCCATGTTTCTGATAT	0.488																																																	0													115	109	111					7																	143701170		2002	4187	6189	SO:0001583	missense	0				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.81G>T	7.37:g.143701170G>T	ENSP00000386151:p.Met27Ile		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M27I	ENST00000408922.2	37	c.81	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905791	0.17760	.	.	ENSG00000221813	ENST00000408922	T	0.02863	4.13	5.37	-2.69	0.06022	.	0.564974	0.12909	U	0.429102	T	0.00906	0.0030	N	0.01081	-1.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44892	-0.9298	10	0.72032	D	0.01	.	1.9457	0.03356	0.2916:0.3376:0.2562:0.1146	.	27	O95007	OR6B1_HUMAN	I	27	ENSP00000386151:M27I	ENSP00000386151:M27I	M	+	3	0	OR6B1	143332103	0.007000	0.16637	0.026000	0.17262	0.452000	0.32318	-1.059000	0.03479	-0.372000	0.07992	0.557000	0.71058	ATG	OR6B1	-	prints_GPCR_Rhodpsn	ENSG00000221813		0.488	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	-	0	73	0	G			143701170	1	tier1	-	no_errors	ENST00000408922	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.002	T	T	143701170	G	T	143701170	3	4	91	1	0	0	0	0	1	0	0	0	11226	1377	48	3	83	3	OR6B1	7	143701170	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	864516	143701170	15437493	196	26269											
FDFT1	2222	genome.wustl.edu	37	chr8	11689141	11689141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatggatgccaccaatatgCcagctgtcaaagccatcata	13	9	8	11	0	2	1	2	1	0	0	2	2	2	2	4	1	4	1	4	1	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:11689141C>T	ENST00000220584.4	+	7	1216	c.994C>T	c.(994-996)Cca>Tca	p.P332S	FDFT1_ENST00000525900.1_Missense_Mutation_p.P325S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.P289S|FDFT1_ENST00000538689.1_Missense_Mutation_p.P221S|FDFT1_ENST00000528643.1_Missense_Mutation_p.P247S|FDFT1_ENST00000530664.1_Missense_Mutation_p.P268S|FDFT1_ENST00000528812.1_Missense_Mutation_p.P268S|FDFT1_ENST00000525777.1_Missense_Mutation_p.P247S	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	332					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CACCAATATGCCAGCTGTCAA	0.408																																																	0													205	196	199					8																	11689141		2203	4300	6503	SO:0001583	missense	0			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"squalene synthase"	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.994C>T	8.37:g.11689141C>T	ENSP00000220584:p.Pro332Ser		B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.P332S	ENST00000220584.4	37	c.994	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	C	7.080	0.570098	0.13560	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	6.07	5.2	0.72013	Terpenoid synthase (2);	0.494319	0.23433	N	0.048236	T	0.45135	0.1327	N	0.08118	0	0.29750	N	0.836416	B;B;B;B;B	0.22146	0.014;0.006;0.065;0.008;0.008	B;B;B;B;B	0.12156	0.002;0.002;0.007;0.002;0.002	T	0.35773	-0.9775	10	0.07990	T	0.79	-8.0672	9.8724	0.41182	0.0:0.7886:0.1392:0.0722	.	165;289;389;325;332	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	S	221;332;289;325;268;268;247;247	ENSP00000444248:P221S;ENSP00000220584:P332S;ENSP00000390367:P289S;ENSP00000434714:P325S;ENSP00000431749:P268S;ENSP00000432331:P268S;ENSP00000431649:P247S;ENSP00000436069:P247S	ENSP00000220584:P332S	P	+	1	0	FDFT1	11726550	0.983000	0.35010	1.000000	0.80357	0.953000	0.61014	0.746000	0.26275	1.582000	0.49881	0.655000	0.94253	CCA	FDFT1	-	superfamily_Terpenoid_synth,tigrfam_Squal_synth	ENSG00000079459		0.408	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2		0	43	0	C			11689141	1			no_errors	ENST00000220584	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.999	T	T	11689141	C	T	11689141	3	4	91	1	0	0	0	0	1	0	0	0	5824	739	26	3	1020	3	FDFT1	8	11689141	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09		11689141	134674881	197	26270											
SGCZ	137868	genome.wustl.edu	37	chr8	13947970	13947970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctccacaggcagatGttgctactggactgacaagt	10	10	10	11	0	1	2	1	1	0	1	2	3	2	3	1	2	3	4	1	2	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:13947970G>T	ENST00000382080.1	-	8	1636	c.921C>A	c.(919-921)aaC>aaA	p.N307K	SGCZ_ENST00000421524.2_Missense_Mutation_p.N260K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	294					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACAGGCAGATGTTGCTACTGG	0.493																																																	0													181	167	172					8																	13947970		2203	4300	6503	SO:0001583	missense	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.921C>A	8.37:g.13947970G>T	ENSP00000371512:p.Asn307Lys		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.N307K	ENST00000382080.1	37	c.921	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892218	0.33442	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.10763	2.84;2.84	5.5	5.5	0.81552	.	0.368863	0.35805	N	0.002970	T	0.11879	0.0289	L	0.53249	1.67	0.25229	N	0.989848	B;B	0.30634	0.084;0.288	B;B	0.32533	0.07;0.147	T	0.22941	-1.0202	10	0.15066	T	0.55	.	12.131	0.53942	0.0781:0.0:0.9219:0.0	.	260;307	Q08AT0;Q96LD1-2	.;.	K	307;260	ENSP00000371512:N307K;ENSP00000405224:N260K	ENSP00000371512:N307K	N	-	3	2	SGCZ	13992341	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.963000	0.56773	2.760000	0.94817	0.655000	0.94253	AAC	SGCZ	-	NULL	ENSG00000185053		0.493	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	-	0	40	0	G	NM_139167		13947970	-1	tier1	-	no_errors	ENST00000382080	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.999	T	T	13947970	G	T	13947970	3	4	91	1	0	0	0	0	1	0	0	0	14249	1368	48	3	21	3	SGCZ	8	13947970	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2258829	13947970	132416052	198	26271											
XPO7	23039	genome.wustl.edu	37	chr8	21832255	21832255	+	Frame_Shift_Del	DEL	C	C	-																															gattcatcattatttgatatCttcacactttcctgcaattt																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:21832255delC	ENST00000252512.9	+	6	667	c.567delC	c.(565-567)atcfs	p.I189fs	XPO7_ENST00000434536.1_Frame_Shift_Del_p.I198fs|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Frame_Shift_Del_p.I190fs	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	189					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TATTTGATATCTTCACACTTT	0.378																																																	0													123	110	114					8																	21832255		1857	4084	5941	SO:0001589	frameshift_variant	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.567delC	8.37:g.21832255delC	ENSP00000252512:p.Ile189fs		O94846|Q6PJK9|Q8NEK7	Frame_Shift_Del	DEL	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F199fs	ENST00000252512.9	37	c.594	CCDS47818.1	8																																																																																			XPO7	-	superfamily_ARM-type_fold	ENSG00000130227		0.378	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1		0	65	0	C	NM_015024		21832255	1			no_errors	ENST00000434536	ensembl	human	known	74_37	frame_shift_del	14.29	18	3	DEL	1.000	0	-	21832255	C	-	21832255	7	5	91	1	0	1	0	1	0	0	0	0	17498	903	32	0	641	0	XPO7	8	21832255	Frame_Shift_Del	DEL	C	TCGA-L5-A8NS-01A-12D-A37C-09	7884285	21832255	124531767	199	26272	98	3									
XPO7	23039	genome.wustl.edu	37	chr8	21832259	21832259	+	Missense_Mutation	SNP	A	A	C																															catcattatttgatatcttcAcactttcctgcaatttacta																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:21832259A>C	ENST00000252512.9	+	6	671	c.571A>C	c.(571-573)Aca>Cca	p.T191P	XPO7_ENST00000434536.1_Missense_Mutation_p.T200P|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Missense_Mutation_p.T192P	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	191					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGATATCTTCACACTTTCCTG	0.378																																																	0													119	105	110					8																	21832259		1857	4082	5939	SO:0001583	missense	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.571A>C	8.37:g.21832259A>C	ENSP00000252512:p.Thr191Pro		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.T200P	ENST00000252512.9	37	c.598	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	A	16.99	3.273813	0.59649	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.46819	0.86;0.86;0.86	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	N	0.24115	0.695	0.80722	D	1	B;B;B	0.29909	0.233;0.261;0.261	B;B;B	0.36335	0.157;0.222;0.222	T	0.24584	-1.0156	10	0.31617	T	0.26	-10.3557	15.9812	0.80111	1.0:0.0:0.0:0.0	.	192;200;191	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	P	200;191;192	ENSP00000404853:T200P;ENSP00000252512:T191P;ENSP00000410249:T192P	ENSP00000252512:T191P	T	+	1	0	XPO7	21888205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.283000	0.95860	2.256000	0.74724	0.528000	0.53228	ACA	XPO7	-	superfamily_ARM-type_fold	ENSG00000130227		0.378	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1		0	65	0	A	NM_015024		21832259	1			no_errors	ENST00000434536	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	C	C	21832259	A	C	21832259	3	2	91	1	0	0	0	0	1	0	0	0	17498	159	6	4	645	4	XPO7	8	21832259	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	4	21832259	124531763	200	26273	98	3									
XPO7	23039	genome.wustl.edu	37	chr8	21832262	21832262	+	Missense_Mutation	SNP	C	C	G																															cattatttgatatcttcacaCtttcctgcaatttactaaaa																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:21832262C>G	ENST00000252512.9	+	6	674	c.574C>G	c.(574-576)Ctt>Gtt	p.L192V	XPO7_ENST00000434536.1_Missense_Mutation_p.L201V|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Missense_Mutation_p.L193V	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	192					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TATCTTCACACTTTCCTGCAA	0.378																																																	0													120	106	111					8																	21832262		1860	4082	5942	SO:0001583	missense	0			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"Exportins"	14108	protein-coding gene	gene with protein product		606140	"RAN binding protein 16"	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.574C>G	8.37:g.21832262C>G	ENSP00000252512:p.Leu192Val		O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L201V	ENST00000252512.9	37	c.601	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418614	0.83559	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.48201	0.82;0.82;0.82	5.89	5.89	0.94794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44477	0.1295	L	0.43923	1.385	0.80722	D	1	P;B;B	0.35307	0.494;0.008;0.008	B;B;B	0.34138	0.176;0.02;0.027	T	0.22521	-1.0214	10	0.30854	T	0.27	-12.2134	19.8616	0.96786	0.0:1.0:0.0:0.0	.	193;201;192	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	V	201;192;193	ENSP00000404853:L201V;ENSP00000252512:L192V;ENSP00000410249:L193V	ENSP00000252512:L192V	L	+	1	0	XPO7	21888208	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.023000	0.70848	2.796000	0.96246	0.650000	0.86243	CTT	XPO7	-	superfamily_ARM-type_fold	ENSG00000130227		0.378	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	HGNC	protein_coding	OTTHUMT00000375494.1		0	65	0	C	NM_015024		21832262	1			no_errors	ENST00000434536	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	G	G	21832262	C	G	21832262	3	3	91	1	0	0	0	0	1	0	0	0	17498	565	20	5	648	5	XPO7	8	21832262	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3	21832262	124531760	201	26274	98	3									
KIAA1967	57805	genome.wustl.edu	37	chr8	22473234	22473234	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcacctgatgccttggagCaagcagcagacacttctaga	12	7	11	11	0	1	3	0	1	1	2	1	4	1	4	2	2	4	4	2	2	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:22473234C>T	ENST00000308511.4	+	13	1666	c.1417C>T	c.(1417-1419)Caa>Taa	p.Q473*	CCAR2_ENST00000520861.1_Nonsense_Mutation_p.Q148*|CCAR2_ENST00000389279.3_Nonsense_Mutation_p.Q473*|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	473					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TGCCTTGGAGCAAGCAGCAGA	0.582																																																	0													83	88	87					8																	22473234		2203	4300	6503	SO:0001587	stop_gained	0			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"deleted in breast cancer"	607359	"KIAA1967"	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1417C>T	8.37:g.22473234C>T	ENSP00000310670:p.Gln473*		A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Nonsense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.Q473*	ENST00000308511.4	37	c.1417	CCDS34863.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.594801	0.97692	.	.	ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861	.	.	.	6.07	6.07	0.98685	.	0.496019	0.19559	N	0.111380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-7.5618	16.144	0.81551	0.0:1.0:0.0:0.0	.	.	.	.	X	473;473;148	.	ENSP00000310670:Q473X	Q	+	1	0	KIAA1967	22529179	0.834000	0.29399	0.996000	0.52242	0.048000	0.14542	2.741000	0.47426	2.884000	0.98904	0.655000	0.94253	CAA	CCAR2	-	NULL	ENSG00000158941		0.582	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR2	HGNC	protein_coding	OTTHUMT00000375865.1	-	0	31	0	C	NM_021174		22473234	1	tier1	-	no_errors	ENST00000308511	ensembl	human	known	74_37	nonsense	58.82	7	10	SNP	0.999	T	T	22473234	C	T	22473234	4	4	91	1	0	0	0	0	0	1	0	0	8292	711	25	3	1463	3	KIAA1967	8	22473234	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	640972	22473234	123890788	202	26275											
SNTG1	54212	genome.wustl.edu	37	chr8	51617190	51617190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaccgacggaaacagTgcttcaccgtgcagtctgag	9	8	13	11	3	2	1	1	1	1	0	2	4	2	3	2	2	4	3	2	2	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:51617190T>C	ENST00000522124.1	+	16	1730	c.1069T>C	c.(1069-1071)Tgc>Cgc	p.C357R	SNTG1_ENST00000276467.5_Missense_Mutation_p.C357R|SNTG1_ENST00000517473.1_Missense_Mutation_p.C357R|SNTG1_ENST00000518864.1_Missense_Mutation_p.C357R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	357	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ACGGAAACAGTGCTTCACCGT	0.547																																																	0													149	123	132					8																	51617190		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1069T>C	8.37:g.51617190T>C	ENSP00000429842:p.Cys357Arg		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.C357R	ENST00000522124.1	37	c.1069	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631871	0.67015	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.19	5.19	0.71726	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.76170	2.325	0.80722	D	1	P;P	0.47604	0.898;0.612	D;B	0.64321	0.924;0.188	T	0.63545	-0.6613	10	0.87932	D	0	-16.2713	14.5341	0.67947	0.0:0.0:0.0:1.0	.	357;357	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	R	357	ENSP00000429276:C357R;ENSP00000429842:C357R;ENSP00000431123:C357R;ENSP00000276467:C357R	ENSP00000276467:C357R	C	+	1	0	SNTG1	51779743	1.000000	0.71417	0.999000	0.59377	0.650000	0.38633	4.599000	0.61076	2.083000	0.62718	0.523000	0.50628	TGC	SNTG1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000147481		0.547	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0	29	0	T			51617190	1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	C	C	51617190	T	C	51617190	3	2	91	1	0	0	0	0	1	0	0	0	14919	1696	59	4	1123	4	SNTG1	8	51617190	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	29143956	51617190	94746832	203	26276											
MRPL15	29088	genome.wustl.edu	37	chr8	55049207	55049207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catccgaatcccaaaatacgGgtttaacgaaggacataggt	15	8	9	9	3	0	0	0	0	0	0	2	3	2	1	2	3	2	1	2	3	7	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:55049207G>A	ENST00000260102.4	+	2	319	c.245G>A	c.(244-246)gGg>gAg	p.G82E		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	82					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CCAAAATACGGGTTTAACGAA	0.443																																																	0													74	80	78					8																	55049207		2203	4300	6503	SO:0001583	missense	0			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"Mitochondrial ribosomal proteins / large subunits"	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.245G>A	8.37:g.55049207G>A	ENSP00000260102:p.Gly82Glu		Q96Q54|Q9H0Y1	Missense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.G82E	ENST00000260102.4	37	c.245	CCDS6158.1	8	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127753	0.77549	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.43	5.43	0.79202	Ribosomal protein L18e/L15P (2);	0.000000	0.85682	D	0.000000	D	0.83543	0.5277	H	0.95884	3.735	0.80722	D	1	P	0.34815	0.47	B	0.39465	0.3	D	0.86531	0.1822	9	0.54805	T	0.06	-22.7696	19.2615	0.93970	0.0:0.0:1.0:0.0	.	82	Q9P015	RM15_HUMAN	E	82	.	ENSP00000260102:G82E	G	+	2	0	MRPL15	55211760	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.855000	0.99526	2.523000	0.85059	0.655000	0.94253	GGG	MRPL15	-	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	ENSG00000137547		0.443	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	HGNC	protein_coding	OTTHUMT00000378254.1	-	0	61	0	G	NM_014175		55049207	1	tier1	-	no_errors	ENST00000260102	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	A	A	55049207	G	A	55049207	3	1	91	1	0	0	0	0	1	0	0	0	9818	1232	43	3	251	3	MRPL15	8	55049207	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3432017	55049207	91314815	204	26277											
CLVS1	157807	genome.wustl.edu	37	chr8	62212688	62212688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagtatttccagtaccGccagctaaacctggacatgt	10	10	9	12	1	1	0	1	0	0	0	2	1	2	1	4	2	3	4	4	2	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:62212688G>A	ENST00000519846.1	+	3	774	c.302G>A	c.(301-303)cGc>cAc	p.R101H	CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000325897.4_Missense_Mutation_p.R101H			Q8IUQ0	CLVS1_HUMAN	clavesin 1	101					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTCCAGTACCGCCAGCTAAAC	0.502																																																	0													65	63	64					8																	62212688		2203	4300	6503	SO:0001583	missense	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"retinaldehyde binding protein 1-like 1"	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.302G>A	8.37:g.62212688G>A	ENSP00000428402:p.Arg101His		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R101H	ENST00000519846.1	37	c.302	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.176948	0.94846	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	D;D	0.89270	-2.49;-2.49	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	M	0.84156	2.68	0.80722	D	1	D;D	0.57571	0.98;0.975	P;P	0.56960	0.573;0.81	D	0.93561	0.6895	9	.	.	.	-14.0481	20.0313	0.97540	0.0:0.0:1.0:0.0	.	101;101	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	H	101	ENSP00000428402:R101H;ENSP00000325506:R101H	.	R	+	2	0	CLVS1	62375242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	CGC	CLVS1	-	superfamily_CRAL/TRIO_N_dom	ENSG00000177182		0.502	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	-	0	38	0	G	NM_173519		62212688	1	tier1	-	no_errors	ENST00000325897	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	62212688	G	A	62212688	3	1	91	1	0	0	0	0	1	0	0	0	3578	1087	38	1	304	1	CLVS1	8	62212688	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7163481	62212688	84151334	205	26278											
BHLHE22	27319	genome.wustl.edu	37	chr8	65494189	65494189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccctcggtgcgaaagctctCcaagatcgccacgctgctgc	7	7	10	17	4	1	1	0	0	1	1	4	2	1	1	4	1	4	3	4	1	2	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:65494189C>G	ENST00000321870.1	+	1	1376	c.842C>G	c.(841-843)tCc>tGc	p.S281C	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	281	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGAAAGCTCTCCAAGATCGCC	0.667																																					Colon(113;104 1586 2865 9855 18065)												0													28	26	27					8																	65494189		2203	4300	6503	SO:0001583	missense	0			U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"Basic helix-loop-helix proteins"	11963	protein-coding gene	gene with protein product		613483	"trinucleotide repeat containing 20", "basic helix-loop-helix domain containing, class B, 5"	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.842C>G	8.37:g.65494189C>G	ENSP00000318799:p.Ser281Cys			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S281C	ENST00000321870.1	37	c.842	CCDS6179.1	8	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878281	0.51801	.	.	ENSG00000180828	ENST00000321870	D	0.98937	-5.25	4.13	4.13	0.48395	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000003	D	0.99345	0.9770	H	0.95950	3.745	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.98528	1.0626	10	0.87932	D	0	0.3865	12.4678	0.55768	0.168:0.832:0.0:0.0	.	281	Q8NFJ8	BHE22_HUMAN	C	281	ENSP00000318799:S281C	ENSP00000318799:S281C	S	+	2	0	BHLHE22	65656743	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.300000	0.59079	2.096000	0.63516	0.313000	0.20887	TCC	BHLHE22	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000180828		0.667	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHE22	HGNC	protein_coding	OTTHUMT00000378549.1	-	0	18	0	C	NM_152414		65494189	1	tier1	-	no_errors	ENST00000321870	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	G	G	65494189	C	G	65494189	3	3	91	1	0	0	0	0	1	0	0	0	1423	855	30	5	844	5	BHLHE22	8	65494189	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3281501	65494189	80869833	206	26279											
TRPA1	8989	genome.wustl.edu	37	chr8	72942163	72942163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatcctcttcaatgatgcAtgtttctggacctcagcaat	9	14	7	11	0	4	1	2	1	2	0	5	2	5	2	2	1	2	4	2	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:72942163A>T	ENST00000262209.4	-	24	3117	c.2910T>A	c.(2908-2910)caT>caA	p.H970Q	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	970					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCAATGATGCATGTTTCTGGA	0.388																																																	0													124	97	106					8																	72942163		2203	4300	6503	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2910T>A	8.37:g.72942163A>T	ENSP00000262209:p.His970Gln		A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H970Q	ENST00000262209.4	37	c.2910	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	A	17.80	3.477969	0.63849	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.29655	1.56;1.56	6.03	0.889	0.19212	.	0.140401	0.64402	D	0.000008	T	0.28034	0.0691	L	0.60455	1.87	0.38989	D	0.959104	P	0.39665	0.682	B	0.37692	0.256	T	0.14309	-1.0477	10	0.54805	T	0.06	-24.387	10.6591	0.45692	0.6703:0.0:0.3297:0.0	.	970	O75762	TRPA1_HUMAN	Q	822;970	ENSP00000428151:H822Q;ENSP00000262209:H970Q	ENSP00000262209:H970Q	H	-	3	2	TRPA1	73104717	1.000000	0.71417	0.995000	0.50966	0.962000	0.63368	0.945000	0.29056	0.135000	0.18707	0.533000	0.62120	CAT	TRPA1	-	NULL	ENSG00000104321		0.388	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	58	0	A	NM_007332		72942163	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.997	T	T	72942163	A	T	72942163	3	4	91	1	0	0	0	0	1	0	0	0	16625	214	8	5	465	5	TRPA1	8	72942163	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7447974	72942163	73421859	207	26280											
ZFHX4	79776	genome.wustl.edu	37	chr8	77616662	77616662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctgaaggatgacaacgaGagcgagatcagcgagttaga	14	6	14	7	3	1	5	1	2	0	3	2	9	2	6	1	1	3	1	1	1	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:77616662G>C	ENST00000521891.2	+	2	787	c.339G>C	c.(337-339)gaG>gaC	p.E113D	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E113D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E113D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E113D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGACAACGAGAGCGAGATCA	0.483										HNSCC(33;0.089)																																							0													158	153	155					8																	77616662		2011	4173	6184	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.339G>C	8.37:g.77616662G>C	ENSP00000430497:p.Glu113Asp		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E113D	ENST00000521891.2	37	c.339	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	7.482	0.648900	0.14516	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.42	5.42	0.78866	.	0.000000	0.44902	U	0.000406	T	0.19287	0.0463	L	0.43152	1.355	0.44728	D	0.997721	B;B;B;B	0.21309	0.032;0.054;0.054;0.001	B;B;B;B	0.19666	0.012;0.026;0.026;0.004	T	0.03717	-1.1010	10	0.17832	T	0.49	.	14.9587	0.71138	0.0:0.1423:0.8577:0.0	.	113;113;113;113	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	113	ENSP00000430497:E113D;ENSP00000399605:E113D;ENSP00000050961:E113D;ENSP00000428525:E113D;ENSP00000427775:E113D;ENSP00000427739:E113D;ENSP00000430848:E113D	ENSP00000050961:E113D	E	+	3	2	ZFHX4	77779217	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.434000	0.66526	2.821000	0.97095	0.650000	0.86243	GAG	ZFHX4	-	NULL	ENSG00000091656		0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	40	0	G	NM_024721		77616662	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	C	C	77616662	G	C	77616662	3	2	91	1	0	0	0	0	1	0	0	0	17683	933	33	5	341	5	ZFHX4	8	77616662	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4674499	77616662	68747360	208	26281											
ZFHX4	79776	genome.wustl.edu	37	chr8	77765554	77765554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcagttcaaacgcccaCggacaagaattacagatgat	15	9	7	10	2	2	3	2	1	1	2	3	4	2	4	1	1	2	1	1	1	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:77765554C>T	ENST00000521891.2	+	10	6845	c.6397C>T	c.(6397-6399)Cgg>Tgg	p.R2133W	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2088W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2107W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2088W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2088					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAACGCCCACGGACAAGAAT	0.448										HNSCC(33;0.089)																																							0													46	45	46					8																	77765554		1910	4127	6037	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6397C>T	8.37:g.77765554C>T	ENSP00000430497:p.Arg2133Trp		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R2133W	ENST00000521891.2	37	c.6397	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266259	0.40095	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.99186	-5.53;-5.53;-5.53;-5.53	3.92	2.0	0.26442	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.41097	U	0.000946	D	0.99554	0.9840	H	0.99074	4.42	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.98335	1.0535	10	0.87932	D	0	.	11.2307	0.48910	0.481:0.5189:0.0:0.0	.	2088;2088;2133	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	W	2133;2117;2088;2088;2107	ENSP00000430497:R2133W;ENSP00000399605:R2088W;ENSP00000050961:R2088W;ENSP00000430848:R2107W	ENSP00000050961:R2088W	R	+	1	2	ZFHX4	77928109	0.984000	0.35163	0.966000	0.40874	0.975000	0.68041	2.414000	0.44627	0.391000	0.25143	0.455000	0.32223	CGG	ZFHX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000091656		0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	35	0	C	NM_024721		77765554	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T	T	77765554	C	T	77765554	3	4	91	1	0	0	0	0	1	0	0	0	17683	527	19	1	6431	1	ZFHX4	8	77765554	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	148892	77765554	68598468	209	26282											
RALYL	138046	genome.wustl.edu	37	chr8	85441593	85441593	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaccagcaacgtcaccaatAagaatgaccccaagtccatc	16	5	6	14	1	1	3	1	1	0	2	3	3	2	3	5	0	2	1	5	0	5	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:85441593A>T	ENST00000521268.1	+	2	1142	c.37A>T	c.(37-39)Aag>Tag	p.K13*	RALYL_ENST00000521695.1_Nonsense_Mutation_p.K13*|RALYL_ENST00000518566.1_Nonsense_Mutation_p.K13*|RALYL_ENST00000522455.1_Nonsense_Mutation_p.K13*|RALYL_ENST00000517638.1_Nonsense_Mutation_p.K26*	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	13							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CGTCACCAATAAGAATGACCC	0.378																																																	0													64	69	67					8																	85441593		2008	4203	6211	SO:0001587	stop_gained	0				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.37A>T	8.37:g.85441593A>T	ENSP00000430367:p.Lys13*		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.K13*	ENST00000521268.1	37	c.37	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	A	36	5.878072	0.97055	.	.	ENSG00000184672	ENST00000522613;ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517988;ENST00000517638;ENST00000522647	.	.	.	5.26	5.26	0.73747	.	0.226765	0.34879	N	0.003614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5058	0.75739	1.0:0.0:0.0:0.0	.	.	.	.	X	13;13;13;13;13;13;26;13	.	ENSP00000430128:K26X	K	+	1	0	RALYL	85604148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.286000	0.95898	2.125000	0.65367	0.456000	0.33151	AAG	RALYL	-	pirsf_hnRNP_C_Raly	ENSG00000184672		0.378	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	-	0	70	0	A			85441593	1	tier1	-	no_errors	ENST00000521268	ensembl	human	known	74_37	nonsense	9.62	47	5	SNP	1.000	T	T	85441593	A	T	85441593	4	4	91	1	0	0	0	0	0	1	0	0	13065	363	13	5	82	5	RALYL	8	85441593	Nonsense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7676039	85441593	60922429	210	26283											
GSDMC	56169	genome.wustl.edu	37	chr8	130789698	130789698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgttcccaaaatgatgaacGagaatccttcttctttcgta	11	15	6	9	2	2	3	0	2	2	1	5	4	4	3	2	0	1	2	2	0	5	6	rs140640562	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:130789698G>A	ENST00000276708.4	-	2	1017	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	46						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AATGATGAACGAGAATCCTTC	0.418																																																	0								G	CYS/ARG	0,4406		0,0,2203	149	136	140		136	0.3	0	8	dbSNP_134	140	4,8596	3.7+/-12.6	0,4,4296	yes	missense	GSDMC	NM_031415.2	180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	46/509	130789698	4,13002	2203	4300	6503	SO:0001583	missense	0			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"melanoma-derived leucine zipper, extra-nuclear factor"	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.136C>T	8.37:g.130789698G>A	ENSP00000276708:p.Arg46Cys		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.R46C	ENST00000276708.4	37	c.136	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540506	0.13250	0.0	4.65E-4	ENSG00000147697	ENST00000276708	T	0.24151	1.87	4.01	0.339	0.15979	.	6.925660	0.00166	N	0.000003	T	0.14013	0.0339	N	0.12182	0.205	0.09310	N	1	B	0.27264	0.173	B	0.20955	0.032	T	0.14420	-1.0473	10	0.38643	T	0.18	.	3.0667	0.06217	0.3781:0.2224:0.3996:0.0	.	46	Q9BYG8	GSDMC_HUMAN	C	46	ENSP00000276708:R46C	ENSP00000276708:R46C	R	-	1	0	GSDMC	130858880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.788000	0.04614	0.073000	0.16731	-1.434000	0.01081	CGT	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.418	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	-	0	45	0	G			130789698	-1	tier1	rs140640562	no_errors	ENST00000276708	ensembl	human	known	74_37	missense	12.00	22	3	SNP	0.000	A	A	130789698	G	A	130789698	3	1	91	1	0	0	0	0	1	0	0	0	6845	1058	37	1	1442	1	GSDMC	8	130789698	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	45348105	130789698	15574324	211	26284											
ARC	23237	genome.wustl.edu	37	chr8	143694914	143694914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgtgattctggatctggGacagccagtactcctcagag	9	11	11	10	0	4	2	2	1	2	1	5	4	5	4	2	2	2	1	2	2	1	2	rs74348901		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:143694914G>T	ENST00000356613.2	-	1	1919	c.719C>A	c.(718-720)tCc>tAc	p.S240Y	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CTGGATCTGGGACAGCCAGTA	0.597																																																	0													33	34	34					8																	143694914		2199	4299	6498	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.719C>A	8.37:g.143694914G>T	ENSP00000349022:p.Ser240Tyr		B4DFL0|O60937	Missense_Mutation	SNP	prints_Activity-reg_cytoskelet-assoc	p.S240Y	ENST00000356613.2	37	c.719	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153957	0.78114	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.77	4.77	0.60923	.	0.000000	0.56097	U	0.000036	T	0.64659	0.2618	N	0.24115	0.695	0.49483	D	0.999793	D	0.89917	1.0	D	0.87578	0.998	T	0.68746	-0.5327	9	0.54805	T	0.06	.	16.759	0.85507	0.0:0.0:1.0:0.0	.	240	Q7LC44	ARC_HUMAN	Y	240	.	ENSP00000349022:S240Y	S	-	2	0	ARC	143691916	0.770000	0.28543	0.868000	0.34077	0.983000	0.72400	2.894000	0.48640	2.187000	0.69744	0.462000	0.41574	TCC	ARC	-	NULL	ENSG00000198576		0.597	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	-	0	58	0	G			143694914	-1	tier1	-	no_errors	ENST00000356613	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	T	T	143694914	G	T	143694914	3	4	91	1	0	0	0	0	1	0	0	0	841	1174	41	3	475	3	ARC	8	143694914	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	12905216	143694914	2669108	212	26285											
CYP11B1	1584	genome.wustl.edu	37	chr8	143961103	143961103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgttgcctggacgccGgggcatggcttcaaagggca	7	7	14	13	2	1	0	1	0	0	0	1	1	1	1	4	5	1	4	4	5	1	2	rs369213890		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:143961103G>A	ENST00000292427.4	-	1	159	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	CYP11B1_ENST00000377675.3_Missense_Mutation_p.R43W|CYP11B1_ENST00000517471.1_Missense_Mutation_p.R43W	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	43			R -> Q (in dbSNP:rs4534). {ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:2401360}.		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCTGGACGCCGGGGCATGGCT	0.642									Familial Hyperaldosteronism type I																																								0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	66	63	64		127,127	0.9	0	8		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	43/504,43/438	143961103	2,13004	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"Cytochrome P450s"	2591	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	610613	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.127C>T	8.37:g.143961103G>A	ENSP00000292427:p.Arg43Trp		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.R43W	ENST00000292427.4	37	c.127	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314991	0.23908	2.27E-4	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.75704	-0.42;-0.42;-0.96	2.96	0.916	0.19373	.	1.282380	0.06023	N	0.651646	T	0.72463	0.3463	L	0.36672	1.1	0.09310	N	1	P;P;D	0.60160	0.862;0.931;0.987	B;P;P	0.52909	0.339;0.606;0.713	T	0.59316	-0.7477	10	0.87932	D	0	.	5.5656	0.17168	0.0:0.2211:0.5521:0.2268	.	43;43;43	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	W	43	ENSP00000292427:R43W;ENSP00000428043:R43W;ENSP00000366903:R43W	ENSP00000292427:R43W	R	-	1	2	CYP11B1	143958105	0.017000	0.18338	0.009000	0.14445	0.096000	0.18686	0.370000	0.20433	0.043000	0.15746	0.305000	0.20034	CGG	CYP11B1	-	pfam_Cyt_P450,prints_Cyt_P450_mitochondrial	ENSG00000160882		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2		0	31	0	G			143961103	-1			no_errors	ENST00000292427	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.228	A	A	143961103	G	A	143961103	3	1	91	1	0	0	0	0	1	0	0	0	4154	1115	39	1	1420	1	CYP11B1	8	143961103	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	266189	143961103	2402919	213	26286											
VPS28	51160	genome.wustl.edu	37	chr8	145650186	145650186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccttgatccgctccatgGccagcgggcagtccagctgt	5	9	11	16	2	0	1	0	1	0	0	4	1	4	1	6	2	2	3	6	2	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr8:145650186G>A	ENST00000526054.1	-	6	354	c.317C>T	c.(316-318)gCc>gTc	p.A106V	VPS28_ENST00000526734.1_5'Flank|VPS28_ENST00000377348.2_Missense_Mutation_p.A106V|VPS28_ENST00000292510.4_Missense_Mutation_p.A106V|VPS28_ENST00000529182.1_Missense_Mutation_p.A106V			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	106	VPS28 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00645}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.A106D(2)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCGCTCCATGGCCAGCGGGCA	0.667																																																	2	Substitution - Missense(2)	lung(2)											115	97	103					8																	145650186		2203	4300	6503	SO:0001583	missense	0			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"vacuolar protein sorting 28 (yeast)"				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.317C>T	8.37:g.145650186G>A	ENSP00000434064:p.Ala106Val		Q86VK0	Missense_Mutation	SNP	pfam_VPS28,pirsf_VPS28	p.A106V	ENST00000526054.1	37	c.317	CCDS6425.1	8	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586198	0.46110	.	.	ENSG00000160948	ENST00000529182;ENST00000526054;ENST00000292510;ENST00000377348;ENST00000533806;ENST00000531032	.	.	.	5.83	3.0	0.34707	Vacuolar protein sorting-associated, VPS28, N-terminal (1);	0.050646	0.85682	D	0.000000	T	0.68952	0.3057	M	0.89968	3.075	0.80722	D	1	P;B	0.48503	0.911;0.261	P;B	0.50860	0.652;0.367	T	0.71642	-0.4531	9	0.87932	D	0	.	7.389	0.26899	0.1497:0.0:0.7153:0.135	.	106;106	Q9UK41-2;Q9UK41	.;VPS28_HUMAN	V	106;106;106;106;89;106	.	ENSP00000292510:A106V	A	-	2	0	VPS28	145620994	1.000000	0.71417	0.869000	0.34112	0.170000	0.22686	7.189000	0.77747	0.776000	0.33473	-0.137000	0.14449	GCC	VPS28	-	pfam_VPS28,pirsf_VPS28	ENSG00000160948		0.667	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS28	HGNC	protein_coding	OTTHUMT00000382694.1	-	0	50	0	G			145650186	-1	tier1	-	no_errors	ENST00000377348	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.998	A	A	145650186	G	A	145650186	3	1	91	1	0	0	0	0	1	0	0	0	17248	1203	42	3	478	3	VPS28	8	145650186	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1689083	145650186	713836	214	26287											
KIAA2026	158358	genome.wustl.edu	37	chr9	5968554	5968554	+	Missense_Mutation	SNP	G	G	C																															tttactcccatttcaacagaGatgtcatgattatccaagat																								rs112865182		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:5968554G>C	ENST00000399933.3	-	3	1676	c.1677C>G	c.(1675-1677)atC>atG	p.I559M	KIAA2026_ENST00000381461.2_Missense_Mutation_p.I559M	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	559										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTCAACAGAGATGTCATGAT	0.358																																																	0													108	100	102					9																	5968554		1847	4100	5947	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1677C>G	9.37:g.5968554G>C	ENSP00000382815:p.Ile559Met		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.I559M	ENST00000399933.3	37	c.1677		9	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853237	0.32699	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.91894	-2.93;-2.93;-2.93	5.86	2.97	0.34412	.	0.278687	0.23779	U	0.044649	D	0.87752	0.6256	N	0.24115	0.695	0.22975	N	0.99849	P	0.46220	0.874	P	0.48141	0.568	T	0.80174	-0.1492	10	0.62326	D	0.03	.	8.9984	0.36066	0.2902:0.0:0.7098:0.0	.	559	Q5HYC2	K2026_HUMAN	M	559;559;492	ENSP00000382815:I559M;ENSP00000370870:I559M;ENSP00000444993:I492M	ENSP00000370870:I559M	I	-	3	3	KIAA2026	5958554	0.996000	0.38824	0.999000	0.59377	0.986000	0.74619	0.695000	0.25527	0.359000	0.24239	0.591000	0.81541	ATC	KIAA2026	-	NULL	ENSG00000183354		0.358	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2		0	31	0	G	NM_001017969		5968554	-1			no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	18.18	9	2	SNP	0.986	C	C	5968554	G	C	5968554	3	2	91	1	0	0	0	0	1	0	0	0	8297	932	33	5	4658	5	KIAA2026	9	5968554	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		5968554	135244877	215	26288	99	2									
KIAA2026	158358	genome.wustl.edu	37	chr9	5968562	5968562	+	Missense_Mutation	SNP	G	G	A																															catttcaacagagatgtcatGattatccaagatcattttag																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:5968562G>A	ENST00000399933.3	-	3	1668	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	KIAA2026_ENST00000381461.2_Missense_Mutation_p.H557Y	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	557										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GAGATGTCATGATTATCCAAG	0.353																																																	0													109	102	104					9																	5968562		1856	4100	5956	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1669C>T	9.37:g.5968562G>A	ENSP00000382815:p.His557Tyr		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.H557Y	ENST00000399933.3	37	c.1669		9	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980877	0.18812	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.90900	-2.75;-2.75;-2.75	5.86	5.86	0.93980	.	0.730148	0.11588	U	0.549043	T	0.81351	0.4804	N	0.19112	0.55	0.26408	N	0.976318	B	0.33583	0.418	B	0.30943	0.122	T	0.69461	-0.5139	10	0.19590	T	0.45	.	7.6807	0.28511	0.1912:0.0:0.8088:0.0	.	557	Q5HYC2	K2026_HUMAN	Y	557;557;490	ENSP00000382815:H557Y;ENSP00000370870:H557Y;ENSP00000444993:H490Y	ENSP00000370870:H557Y	H	-	1	0	KIAA2026	5958562	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.197000	0.51028	2.781000	0.95711	0.591000	0.81541	CAT	KIAA2026	-	NULL	ENSG00000183354		0.353	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2		0	29	0	G	NM_001017969		5968562	-1			no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	20.00	8	2	SNP	1.000	A	A	5968562	G	A	5968562	3	1	91	1	0	0	0	0	1	0	0	0	8297	1290	45	3	4666	3	KIAA2026	9	5968562	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8	5968562	135244869	216	26289	99	2									
CDKN2A	1029	genome.wustl.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	4	6	19	12	5	0	1	0	1	0	1	3	2	1	1	2	4	2	2	2	4	0	0	rs121913385		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385						12	15	14					9																	21971111		2176	4259	6435	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.A138V	ENST00000304494.5	37	c.413	CCDS6510.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	CDKN2A	-	NULL	ENSG00000147889		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1		0	27	0	G	NM_000077		21971111	-1			no_errors	ENST00000361570	ensembl	human	known	74_37	missense	40.00	3	2	SNP	1.000	A	A	21971111	G	A	21971111	3	1	91	1	0	0	0	0	1	0	0	0	3168	1319	46	3	231	3	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	16002549	21971111	119242320	217	26290											
B4GALT1	2683	genome.wustl.edu	37	chr9	33113814	33113814	+	Frame_Shift_Del	DEL	A	A	-																															tcttgtctcttgagtggcggAtcatgcgacacctcccgacc																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:33113814delA	ENST00000379731.4	-	5	1208	c.1022delT	c.(1021-1023)atcfs	p.I341fs	B4GALT1_ENST00000535206.1_Intron|B4GALT1_ENST00000541851.1_Frame_Shift_Del_p.I88fs	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	341				MI -> PA (in Ref. 6; AAA68220). {ECO:0000305}.	acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGAGTGGCGGATCATGCGACA	0.458																																																	0													120	112	115					9																	33113814		2203	4300	6503	SO:0001589	frameshift_variant	0			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"Beta 4-glycosyltransferases"	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.1022delT	9.37:g.33113814delA	ENSP00000369055:p.Ile341fs		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Frame_Shift_Del	DEL	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.I341fs	ENST00000379731.4	37	c.1022	CCDS6535.1	9																																																																																			B4GALT1	-	pfam_Galactosyl_T_C	ENSG00000086062		0.458	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT1	HGNC	protein_coding	OTTHUMT00000052039.1		0	50	0	A	NM_001497		33113814	-1	tier1		no_errors	ENST00000379731	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-	-	33113814	A	-	33113814	7	5	91	1	0	1	0	1	0	0	0	0	1271	333	12	0	182	0	B4GALT1	9	33113814	Frame_Shift_Del	DEL	A	TCGA-L5-A8NS-01A-12D-A37C-09	11142703	33113814	108099617	218	26291											
RG9MTD3	158234	genome.wustl.edu	37	chr9	37768143	37768143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctgacaggccattttGgatctgcctcactggattca	11	11	9	10	0	3	1	2	1	1	0	3	3	3	3	2	3	2	1	2	3	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:37768143G>T	ENST00000297994.3	+	5	556	c.491G>T	c.(490-492)tGg>tTg	p.W164L	RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377754.2_Missense_Mutation_p.W69L|TRMT10B_ENST00000377753.2_Missense_Mutation_p.W86L|TRMT10B_ENST00000537911.1_Intron	NM_144964.2	NP_659401.2	Q6PF06	TM10B_HUMAN	tRNA methyltransferase 10 homolog B (S. cerevisiae)	164	SAM-dependent MTase TRM10-type. {ECO:0000255|PROSITE-ProRule:PRU01012}.						methyltransferase activity (GO:0008168)										AGGCCATTTTGGATCTGCCTC	0.408																																																	0													184	173	176					9																	37768143		1851	4099	5950	SO:0001583	missense	0			BC057774	CCDS43804.1, CCDS69598.1, CCDS69600.1, CCDS69601.1	9p13.1	2012-06-28	2012-06-28	2012-06-28	ENSG00000165275	ENSG00000165275			26454	protein-coding gene	gene with protein product			"RNA (guanine-9-) methyltransferase domain containing 3"	RG9MTD3		14702039	Standard	XM_005251373		Approved	FLJ31455, bA3J10.9	uc004aai.3	Q6PF06	OTTHUMG00000019933	ENST00000297994.3:c.491G>T	9.37:g.37768143G>T	ENSP00000297994:p.Trp164Leu		B7Z216|B7Z3D3|Q05DJ4|Q5QP83|Q8NAG2|Q96N36	Missense_Mutation	SNP	pfam_tRNA_m1G_MeTrfase	p.W164L	ENST00000297994.3	37	c.491	CCDS43804.1	9	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436148	0.43224	.	.	ENSG00000165275	ENST00000377753;ENST00000377754;ENST00000297994	T;T;T	0.21031	2.03;2.03;2.03	5.46	5.46	0.80206	.	0.128810	0.64402	D	0.000014	T	0.22044	0.0531	L	0.34521	1.04	0.80722	D	1	P;B;B	0.45768	0.866;0.0;0.003	P;B;B	0.47251	0.542;0.005;0.016	T	0.01496	-1.1340	10	0.11182	T	0.66	-8.3898	17.1382	0.86745	0.0:0.0:1.0:0.0	.	86;69;164	B7Z216;Q6PF06-2;Q6PF06	.;.;RG9D3_HUMAN	L	86;69;164	ENSP00000366982:W86L;ENSP00000366983:W69L;ENSP00000297994:W164L	ENSP00000297994:W164L	W	+	2	0	RG9MTD3	37758143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.402000	0.59722	2.725000	0.93324	0.585000	0.79938	TGG	TRMT10B	-	pfam_tRNA_m1G_MeTrfase	ENSG00000165275		0.408	TRMT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT10B	HGNC	protein_coding	OTTHUMT00000052482.1	-	0	49	0	G	NM_144964		37768143	1	tier1	-	no_errors	ENST00000297994	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	T	T	37768143	G	T	37768143	3	4	91	1	0	0	0	0	1	0	0	0	13318	1357	47	3	505	3	RG9MTD3	9	37768143	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4654329	37768143	103445288	219	26292											
TMEM2	23670	genome.wustl.edu	37	chr9	74360015	74360015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgtaagagacttttagcgGctgaatccccgacagctatg	10	11	10	10	2	0	2	0	1	0	1	1	4	1	2	2	1	2	3	2	1	4	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:74360015G>C	ENST00000377044.4	-	4	1492	c.953C>G	c.(952-954)gCc>gGc	p.A318G	TMEM2_ENST00000377066.5_Missense_Mutation_p.A318G	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	318					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTTTTAGCGGCTGAATCCCC	0.507																																																	0													138	129	132					9																	74360015		2203	4300	6503	SO:0001583	missense	0				CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.953C>G	9.37:g.74360015G>C	ENSP00000366243:p.Ala318Gly		A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.A318G	ENST00000377044.4	37	c.953	CCDS6638.1	9	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030150	0.54790	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.75154	-0.91;-0.91	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67515	0.2901	L	0.48935	1.535	0.80722	D	1	B;B	0.21520	0.034;0.057	B;B	0.24006	0.037;0.05	T	0.60321	-0.7286	10	0.19590	T	0.45	.	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	318;318	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	G	318	ENSP00000366243:A318G;ENSP00000366266:A318G	ENSP00000366243:A318G	A	-	2	0	TMEM2	73549835	1.000000	0.71417	0.996000	0.52242	0.724000	0.41520	7.415000	0.80131	2.861000	0.98227	0.655000	0.94253	GCC	TMEM2	-	NULL	ENSG00000135048		0.507	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM2	HGNC	protein_coding	OTTHUMT00000052618.2		0	28	0	G	NM_013390		74360015	-1			no_errors	ENST00000377044	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	C	C	74360015	G	C	74360015	3	2	91	1	0	0	0	0	1	0	0	0	16168	1203	42	5	3282	5	TMEM2	9	74360015	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	36591872	74360015	66853416	220	26293											
ALDH1A1	216	genome.wustl.edu	37	chr9	75531955	75531955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacaaaaatcctggatgCggctatacaacactggccct	12	9	7	13	1	0	0	0	0	0	0	2	1	2	1	3	3	3	1	3	3	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:75531955C>T	ENST00000297785.3	-	9	970	c.916G>A	c.(916-918)Gca>Aca	p.A306T	ALDH1A1_ENST00000376939.1_3'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	306					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ATCCTGGATGCGGCTATACAA	0.428																																																	0													108	111	110					9																	75531955		2203	4300	6503	SO:0001583	missense	0			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"Aldehyde dehydrogenases"	402	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 1"	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.916G>A	9.37:g.75531955C>T	ENSP00000297785:p.Ala306Thr		O00768|Q5SYR1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.A306T	ENST00000297785.3	37	c.916	CCDS6644.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.399559	0.96030	.	.	ENSG00000165092	ENST00000297785;ENST00000428593	T	0.16196	2.36	5.95	5.95	0.96441	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.071606	0.56097	D	0.000026	T	0.26231	0.0640	L	0.28776	0.89	0.80722	D	1	D;D	0.54772	0.968;0.967	P;P	0.52823	0.71;0.698	T	0.00290	-1.1843	10	0.62326	D	0.03	.	20.3775	0.98923	0.0:1.0:0.0:0.0	.	227;306	B4DDF8;P00352	.;AL1A1_HUMAN	T	306;320	ENSP00000297785:A306T	ENSP00000297785:A306T	A	-	1	0	ALDH1A1	74721775	1.000000	0.71417	0.987000	0.45799	0.520000	0.34377	5.561000	0.67339	2.825000	0.97269	0.650000	0.86243	GCA	ALDH1A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	ENSG00000165092		0.428	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	-	0	51	0	C			75531955	-1	tier1	-	no_errors	ENST00000297785	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T	T	75531955	C	T	75531955	3	4	91	1	0	0	0	0	1	0	0	0	490	768	27	1	609	1	ALDH1A1	9	75531955	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1171940	75531955	65681476	221	26294											
PRUNE2	158471	genome.wustl.edu	37	chr9	79322773	79322773	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacccacgttctctggctCtagaaagttacattcttcag	9	13	6	13	1	4	1	1	0	3	1	6	1	5	1	2	1	1	3	2	1	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:79322773C>G	ENST00000376718.3	-	8	4540	c.4417G>C	c.(4417-4419)Gag>Cag	p.E1473Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1114Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1473					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTCTGGCTCTAGAAAGTTA	0.448																																																	0													47	49	48					9																	79322773		1568	3582	5150	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4417G>C	9.37:g.79322773C>G	ENSP00000365908:p.Glu1473Gln		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E1114Q	ENST00000376718.3	37	c.3340	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.009|5.009	0.187271|0.187271	0.09547|0.09547	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.52295|.	0.67;0.68|.	5.49|5.49	2.51|2.51	0.30379|0.30379	.|.	1.399160|.	0.04521|.	N|.	0.384647|.	T|T	0.40322|0.40322	0.1112|0.1112	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	0.999998|0.999998	B|.	0.25048|.	0.117|.	B|.	0.24155|.	0.051|.	T|T	0.25222|0.25222	-1.0138|-1.0138	10|5	0.66056|.	D|.	0.02|.	-1.5801|-1.5801	7.293|7.293	0.26376|0.26376	0.0:0.7109:0.138:0.1511|0.0:0.7109:0.138:0.1511	.|.	1473|.	Q8WUY3|.	PRUN2_HUMAN|.	Q|T	1473;1114;1472|794	ENSP00000365908:E1473Q;ENSP00000397425:E1114Q|.	ENSP00000365908:E1473Q|.	E|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78512593|78512593	0.009000|0.009000	0.17119|0.17119	0.045000|0.045000	0.18777|0.18777	0.018000|0.018000	0.09664|0.09664	1.102000|1.102000	0.31050|0.31050	0.317000|0.317000	0.23160|0.23160	0.655000|0.655000	0.94253|0.94253	GAG|AGA	PRUNE2	-	NULL	ENSG00000106772		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0	21	0	C	NM_138818		79322773	-1			no_errors	ENST00000428286	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.002	G	G	79322773	C	G	79322773	3	3	91	1	0	0	0	0	1	0	0	0	12683	922	32	5	4897	5	PRUNE2	9	79322773	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3790818	79322773	61890658	222	26295											
FOXB2	442425	genome.wustl.edu	37	chr9	79634684	79634684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgctgccgctgagcgaCatctacaagttcatcatgga	12	9	10	10	2	3	2	2	1	1	1	3	4	3	3	1	1	4	3	1	1	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:79634684C>T	ENST00000376708.1	+	1	114	c.114C>T	c.(112-114)gaC>gaT	p.D38D		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	38					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CGCTGAGCGACATCTACAAGT	0.577																																																	0													75	65	68					9																	79634684		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"Forkhead boxes"	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.114C>T	9.37:g.79634684C>T				Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1	p.D38	ENST00000376708.1	37	c.114	CCDS35045.1	9																																																																																			FOXB2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000204612		0.577	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXB2	HGNC	protein_coding	OTTHUMT00000052745.1	-	0	45	0	C	NM_001013735		79634684	1	tier1	-	no_errors	ENST00000376708	ensembl	human	known	74_37	silent	25.00	21	7	SNP	1.000	T	T	79634684	C	T	79634684	2	4	91	1	0	0	0	0	0	0	0	1	6015	477	17	3		3	FOXB2	9	79634684	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	311911	79634684	61578747	223	26296											
VPS13A	23230	genome.wustl.edu	37	chr9	79890564	79890564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaataagatttgaagtacCaaaggtaggtactacggtaa	18	10	9	4	1	0	2	0	1	0	1	0	2	0	2	1	3	3	4	1	3	10	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:79890564C>T	ENST00000360280.3	+	25	2923	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	VPS13A_ENST00000376636.3_Missense_Mutation_p.P888L|VPS13A_ENST00000376634.4_Missense_Mutation_p.P888L|VPS13A_ENST00000357409.5_Missense_Mutation_p.P888L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	888					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.P888Q(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTGAAGTACCAAAGGTAGGT	0.308																																																	3	Substitution - Missense(3)	lung(3)											80	92	88					9																	79890564		2203	4298	6501	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2663C>T	9.37:g.79890564C>T	ENSP00000353422:p.Pro888Leu		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.P888L	ENST00000360280.3	37	c.2663	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004084	0.35320	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.6	3.73	0.42828	.	0.497022	0.22311	N	0.061738	T	0.14399	0.0348	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.28055	0.032;0.121;0.199;0.089	B;B;B;B	0.26969	0.062;0.034;0.075;0.075	T	0.06391	-1.0829	10	0.27785	T	0.31	.	8.6523	0.34042	0.2707:0.6576:0.0:0.0717	.	888;888;888;888	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	888	ENSP00000365821:P888L;ENSP00000365823:P888L;ENSP00000353422:P888L;ENSP00000349985:P888L	ENSP00000349985:P888L	P	+	2	0	VPS13A	79080384	0.993000	0.37304	1.000000	0.80357	0.863000	0.49368	0.855000	0.27805	0.690000	0.31570	0.555000	0.69702	CCA	VPS13A	-	NULL	ENSG00000197969		0.308	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0	54	0	C	NM_015186		79890564	1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	T	T	79890564	C	T	79890564	3	4	91	1	0	0	0	0	1	0	0	0	17238	594	21	3	2761	3	VPS13A	9	79890564	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	255880	79890564	61322867	224	26297											
VPS13A	23230	genome.wustl.edu	37	chr9	79917908	79917908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaggttgtggttgaacGaaatttatgctgggagtggt	8	15	15	3	1	1	2	0	2	1	0	1	4	1	3	0	4	2	3	0	4	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:79917908G>T	ENST00000360280.3	+	34	4150	c.3890G>T	c.(3889-3891)cGa>cTa	p.R1297L	VPS13A_ENST00000376636.3_Missense_Mutation_p.R1258L|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1297L|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.R1297L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1297					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGGTTGAACGAAATTTATGC	0.353																																																	0													143	138	140					9																	79917908		2203	4300	6503	SO:0001583	missense	0			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"chorein"	605978	"chorea acanthocytosis", "vacuolar protein sorting 13A (yeast)"	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3890G>T	9.37:g.79917908G>T	ENSP00000353422:p.Arg1297Leu		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.R1297L	ENST00000360280.3	37	c.3890	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370527	0.82573	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	5.31	5.31	0.75309	.	0.084786	0.46145	D	0.000317	T	0.46908	0.1417	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.94;0.983;0.983	T	0.48670	-0.9015	10	0.59425	D	0.04	.	18.5866	0.91192	0.0:0.0:1.0:0.0	.	1258;1297;1297;1297	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	1297;1258;1297;1297	ENSP00000365821:R1297L;ENSP00000365823:R1258L;ENSP00000353422:R1297L;ENSP00000349985:R1297L	ENSP00000349985:R1297L	R	+	2	0	VPS13A	79107728	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	7.098000	0.76974	2.480000	0.83734	0.563000	0.77884	CGA	VPS13A	-	NULL	ENSG00000197969		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	-	0	90	0	G	NM_015186		79917908	1	tier1	-	no_errors	ENST00000360280	ensembl	human	known	74_37	missense	27.08	34	13	SNP	1.000	T	T	79917908	G	T	79917908	3	4	91	1	0	0	0	0	1	0	0	0	17238	1058	37	2	4024	2	VPS13A	9	79917908	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	27344	79917908	61295523	225	26298											
HNRNPK	3190	genome.wustl.edu	37	chr9	86593149	86593149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgttagggaaggtttcttCtggctgttcagtttccatat	7	17	11	6	0	3	0	1	0	2	0	4	1	4	1	1	3	0	5	1	3	3	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:86593149C>T	ENST00000376264.2	-	3	277	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E7K|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E7K|HNRNPK_ENST00000376263.3_Missense_Mutation_p.E7K|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E7K|RMI1_ENST00000325875.3_5'Flank	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	7	Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						AAGGTTTCTTCTGGCTGTTCA	0.333																																																	0													84	85	85					9																	86593149		2203	4300	6503	SO:0001583	missense	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.19G>A	9.37:g.86593149C>T	ENSP00000365440:p.Glu7Lys		Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1	p.E7K	ENST00000376264.2	37	c.19	CCDS6667.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.258206	0.95368	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156	T;T;T;T;T	0.50001	0.76;0.77;0.76;0.77;0.77	5.03	5.03	0.67393	ROK, N-terminal (1);	0.335623	0.32935	N	0.005464	T	0.58264	0.2110	L	0.29908	0.895	0.44462	D	0.997392	D;P;D;D;P;D;D;P	0.76494	0.998;0.822;0.999;0.999;0.913;0.998;0.977;0.929	D;B;D;D;P;D;P;P	0.83275	0.965;0.325;0.996;0.996;0.716;0.991;0.814;0.814	T	0.55431	-0.8142	10	0.33141	T	0.24	-3.9099	18.7128	0.91664	0.0:1.0:0.0:0.0	.	7;7;7;7;7;7;7;7	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	K	7	ENSP00000365458:E7K;ENSP00000365440:E7K;ENSP00000365439:E7K;ENSP00000317788:E7K;ENSP00000353552:E7K	ENSP00000317788:E7K	E	-	1	0	HNRNPK	85782969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.110000	0.71535	2.480000	0.83734	0.655000	0.94253	GAA	HNRNPK	-	pfam_ROK_N	ENSG00000165119		0.333	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	HGNC	protein_coding	OTTHUMT00000052846.2	-	0	114	0	C			86593149	-1	tier1	-	no_errors	ENST00000376263	ensembl	human	known	74_37	missense	23.81	32	10	SNP	1.000	T	T	86593149	C	T	86593149	3	4	91	1	0	0	0	0	1	0	0	0	7296	922	32	3	1470	3	HNRNPK	9	86593149	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6675241	86593149	54620282	226	26299											
NANS	54187	genome.wustl.edu	37	chr9	100840540	100840540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcaagtttatcagatcGtgaagcccctcaaccccaac	13	8	7	13	1	2	3	2	2	0	1	3	3	2	3	4	0	4	2	4	0	6	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:100840540G>A	ENST00000210444.5	+	4	584	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000478530.1_5'Flank	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	172					lipopolysaccharide biosynthetic process (GO:0009103)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	N-acetylneuraminate synthase activity (GO:0050462)|N-acylneuraminate cytidylyltransferase activity (GO:0008781)|N-acylneuraminate-9-phosphate synthase activity (GO:0047444)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TTATCAGATCGTGAAGCCCCT	0.547																																																	0													226	177	194					9																	100840540		2203	4300	6503	SO:0001583	missense	0			AF161387	CCDS6733.1	9p24.1-p23	2008-07-31	2008-07-31		ENSG00000095380	ENSG00000095380			19237	protein-coding gene	gene with protein product	"sialic acid synthase"	605202				10749855	Standard	NM_018946		Approved	SAS	uc004ayc.3	Q9NR45	OTTHUMG00000020341	ENST00000210444.5:c.514G>A	9.37:g.100840540G>A	ENSP00000210444:p.Val172Met		B2RE98|Q8WUV9|Q9BWS6|Q9NVD4	Missense_Mutation	SNP	pfam_Neu5Ac_N,pfam_SAF,superfamily_AFP_Neu5c_C,smart_SAF,pfscan_AFP_Neu5c_C,prints_Antifreeze_III	p.V172M	ENST00000210444.5	37	c.514	CCDS6733.1	9	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342759	0.41498	.	.	ENSG00000095380	ENST00000210444;ENST00000415280	T;T	0.45668	0.89;0.89	5.32	5.32	0.75619	Aldolase-type TIM barrel (1);N-acetylneuraminic acid synthase, N-terminal (1);	0.054374	0.64402	D	0.000001	T	0.27594	0.0678	N	0.17278	0.47	0.80722	D	1	P;B	0.49447	0.924;0.386	B;B	0.36134	0.218;0.094	T	0.18555	-1.0333	10	0.62326	D	0.03	-26.0614	16.9588	0.86267	0.0:0.0:1.0:0.0	.	8;172	E9PGK0;Q9NR45	.;SIAS_HUMAN	M	172;31	ENSP00000210444:V172M;ENSP00000404107:V31M	ENSP00000210444:V172M	V	+	1	0	NANS	99880361	1.000000	0.71417	0.999000	0.59377	0.713000	0.41058	9.410000	0.97335	2.674000	0.91012	0.644000	0.83932	GTG	NANS	-	pfam_Neu5Ac_N	ENSG00000095380		0.547	NANS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANS	HGNC	protein_coding	OTTHUMT00000053359.1	-	0	49	0	G	NM_018946		100840540	1	tier1	-	no_errors	ENST00000210444	ensembl	human	known	74_37	missense	44.44	20	16	SNP	1.000	A	A	100840540	G	A	100840540	3	1	91	1	0	0	0	0	1	0	0	0	10193	1145	40	1	528	1	NANS	9	100840540	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	14247391	100840540	40372891	227	26300											
MUSK	4593	genome.wustl.edu	37	chr9	113563101	113563101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaggtcatttactacGtgcgagatggcaacatcctc	11	10	11	9	2	1	2	1	1	0	1	3	4	2	3	1	3	4	1	1	3	3	3	rs551520537		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:113563101G>A	ENST00000374448.4	+	15	2577	c.2443G>A	c.(2443-2445)Gtg>Atg	p.V815M	MUSK_ENST00000416899.2_Missense_Mutation_p.V807M|MUSK_ENST00000189978.5_Missense_Mutation_p.V815M	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	815	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CATTTACTACGTGCGAGATGG	0.562																																																	0													63	62	63					9																	113563101		2058	4201	6259	SO:0001583	missense	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.2443G>A	9.37:g.113563101G>A	ENSP00000363571:p.Val815Met		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V815M	ENST00000374448.4	37	c.2443	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893579	0.91889	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	D	0.84442	-1.85	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92179	0.7520	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92380	0.5912	10	0.87932	D	0	.	19.0078	0.92859	0.0:0.0:1.0:0.0	.	815	O15146	MUSK_HUMAN	M	821;815;815;729;729;813	ENSP00000363571:V815M	ENSP00000189978:V821M	V	+	1	0	MUSK	112602922	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.809000	0.96659	0.557000	0.71058	GTG	MUSK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000030304		0.562	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding			0	31	0	G			113563101	1			no_errors	ENST00000374448	ensembl	human	known	74_37	missense	12.50	13	2	SNP	1.000	A	A	113563101	G	A	113563101	3	1	91	1	0	0	0	0	1	0	0	0	10027	1145	40	1	2533	1	MUSK	9	113563101	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	12722561	113563101	27650330	228	26301											
KIAA0368	23392	genome.wustl.edu	37	chr9	114132855	114132855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattccttcagaacagcttGaagaatttcatttgtgctgg	11	14	8	8	0	2	3	2	1	0	2	3	3	3	3	1	1	3	2	1	1	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:114132855G>C	ENST00000338205.5	-	44	5053	c.4834C>G	c.(4834-4836)Caa>Gaa	p.Q1612E	KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.Q1790E|KIAA0368_ENST00000374378.3_Missense_Mutation_p.Q76E			Q5VYK3	ECM29_HUMAN	KIAA0368	1618					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AGAACAGCTTGAAGAATTTCA	0.418																																																	0													63	60	61					9																	114132855		1894	4106	6000	SO:0001583	missense	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"ECM29 homolog (S. cerevisiae)"					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4834C>G	9.37:g.114132855G>C	ENSP00000339889:p.Gln1612Glu		O15074|Q8WU82	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1790E	ENST00000338205.5	37	c.5368		9	.	.	.	.	.	.	.	.	.	.	G	5.988	0.366255	0.11352	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000374383;ENST00000543827;ENST00000374378	T;T	0.65732	-0.17;-0.17	5.79	5.79	0.91817	.	0.122398	0.56097	D	0.000033	T	0.45696	0.1355	N	0.17082	0.46	0.48975	D	0.999737	B	0.02656	0.0	B	0.04013	0.001	T	0.46748	-0.9169	10	0.02654	T	1	.	20.031	0.97536	0.0:0.0:1.0:0.0	.	1087	B3KXF2	.	E	1612;1790;76;1087;76	ENSP00000259335:Q1790E;ENSP00000363499:Q76E	ENSP00000259335:Q1790E	Q	-	1	0	KIAA0368	113172676	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	6.751000	0.74893	2.735000	0.93741	0.655000	0.94253	CAA	KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.418	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	-	0	73	0	G	NM_014686		114132855	-1	tier1	-	no_errors	ENST00000259335	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	C	C	114132855	G	C	114132855	3	2	91	1	0	0	0	0	1	0	0	0	8198	1299	45	5	709	5	KIAA0368	9	114132855	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	569754	114132855	27080576	229	26302											
ZNF483	158399	genome.wustl.edu	37	chr9	114305075	114305075	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttttagccattttacGtctgtgatttatcatcaaag	11	17	6	7	1	3	2	2	2	1	0	3	2	3	2	1	0	2	0	1	0	4	6	rs142830150		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:114305075G>T	ENST00000309235.5	+	6	2018	c.1860G>T	c.(1858-1860)acG>acT	p.T620T	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GCCATTTTACGTCTGTGATTT	0.408																																																	0													65	67	66					9																	114305075		2203	4300	6503	SO:0001819	synonymous_variant	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"Zinc fingers, C2H2-type", "-", "-", "-"	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1860G>T	9.37:g.114305075G>T			Q5VZN2|Q8NAE1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.T620	ENST00000309235.5	37	c.1860	CCDS35106.1	9																																																																																			ZNF483	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173258		0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1		0	64	0	G	XM_088567		114305075	1			no_errors	ENST00000309235	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.009	T	T	114305075	G	T	114305075	2	4	91	1	0	0	0	0	0	0	0	1	17984	1132	40	2		2	ZNF483	9	114305075	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	172220	114305075	26908356	230	26303											
COL27A1	85301	genome.wustl.edu	37	chr9	117064372	117064372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttttgcagggtcctccagGgggtcctatccaattggtaa	7	13	11	10	0	1	0	0	0	1	0	5	0	5	0	4	4	1	2	4	4	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:117064372G>A	ENST00000356083.3	+	56	5247	c.4856G>A	c.(4855-4857)gGg>gAg	p.G1619E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1619	Collagen-like 16.|Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGTCCTCCAGGGGGTCCTATC	0.557																																																	0													112	112	112					9																	117064372		2203	4300	6503	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.4856G>A	9.37:g.117064372G>A	ENSP00000348385:p.Gly1619Glu		Q66K43|Q96JF7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.G1619E	ENST00000356083.3	37	c.4856	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751089	0.49257	.	.	ENSG00000196739	ENST00000356083	D	0.99619	-6.28	4.97	4.97	0.65823	.	.	.	.	.	D	0.99768	0.9905	H	0.98314	4.2	0.26139	N	0.980309	D	0.58970	0.984	P	0.62184	0.899	D	0.98563	1.0642	9	0.66056	D	0.02	.	14.0889	0.64977	0.0:0.0:1.0:0.0	.	1619	Q8IZC6	CORA1_HUMAN	E	1619	ENSP00000348385:G1619E	ENSP00000348385:G1619E	G	+	2	0	COL27A1	116104193	1.000000	0.71417	0.939000	0.37840	0.979000	0.70002	4.691000	0.61738	2.468000	0.83385	0.462000	0.41574	GGG	COL27A1	-	pfam_Collagen	ENSG00000196739		0.557	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	-	0	65	0	G	NM_032888		117064372	1	tier1	-	no_errors	ENST00000356083	ensembl	human	known	74_37	missense	14.71	29	5	SNP	0.982	A	A	117064372	G	A	117064372	3	1	91	1	0	0	0	0	1	0	0	0	3692	1232	43	3	5078	3	COL27A1	9	117064372	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2759297	117064372	24149059	231	26304											
OR1N1	138883	genome.wustl.edu	37	chr9	125289266	125289266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctagatcaccaaacatcaGaaagaaatacatttgcgtga	17	9	7	8	1	3	4	2	1	1	3	3	4	3	4	1	0	3	0	1	0	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:125289266G>C	ENST00000304880.2	-	1	306	c.307C>G	c.(307-309)Ctg>Gtg	p.L103V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCAAACATCAGAAAGAAATAC	0.507																																																	0													91	88	89					9																	125289266		2203	4300	6503	SO:0001583	missense	0			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.307C>G	9.37:g.125289266G>C	ENSP00000306974:p.Leu103Val		A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L103V	ENST00000304880.2	37	c.307	CCDS6844.1	9	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208206	0.58343	.	.	ENSG00000171505	ENST00000304880	T	0.00538	6.71	3.75	0.369	0.16151	GPCR, rhodopsin-like superfamily (1);	0.289193	0.18339	U	0.144259	T	0.00440	0.0014	N	0.16862	0.45	0.09310	N	1	D	0.54207	0.965	P	0.47118	0.538	T	0.58702	-0.7590	10	0.44086	T	0.13	.	6.8292	0.23900	0.0:0.2661:0.296:0.4379	.	103	Q8NGS0	OR1N1_HUMAN	V	103	ENSP00000306974:L103V	ENSP00000306974:L103V	L	-	1	2	OR1N1	124329087	0.000000	0.05858	0.035000	0.18076	0.992000	0.81027	-5.879000	0.00093	0.235000	0.21160	0.545000	0.68477	CTG	OR1N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171505		0.507	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1		0	35	0	G			125289266	-1			no_errors	ENST00000304880	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.000	C	C	125289266	G	C	125289266	3	2	91	1	0	0	0	0	1	0	0	0	11008	933	33	5	632	5	OR1N1	9	125289266	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8224894	125289266	15924165	232	26305											
OR1B1	347169	genome.wustl.edu	37	chr9	125391809	125391809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcattaggggcaaagctCatcatgagtgacagtcagcc	13	7	12	9	0	3	2	3	2	0	0	3	3	3	2	1	2	3	3	1	2	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:125391809C>T	ENST00000304833.3	-	1	43	c.6G>A	c.(4-6)atG>atA	p.M2I	RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GGGCAAAGCTCATCATGAGTG	0.428																																																	0													70	72	72					9																	125391809		2195	4278	6473	SO:0001583	missense	0			AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"GPCR / Class A : Olfactory receptors"	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.6G>A	9.37:g.125391809C>T	ENSP00000303151:p.Met2Ile		Q6IFN3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M2I	ENST00000304833.3	37	c.6	CCDS35126.1	9	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001622	0.35320	.	.	ENSG00000171484	ENST00000304833	T	0.00352	7.96	4.59	2.71	0.32032	.	0.145674	0.31370	N	0.007766	T	0.00178	0.0005	L	0.27053	0.805	0.21020	N	0.999806	B	0.02656	0.0	B	0.04013	0.001	T	0.42699	-0.9436	10	0.62326	D	0.03	-3.3678	6.7177	0.23312	0.0:0.7225:0.1786:0.0988	.	2	Q8NGR6	OR1B1_HUMAN	I	2	ENSP00000303151:M2I	ENSP00000303151:M2I	M	-	3	0	OR1B1	124431630	0.223000	0.23663	0.308000	0.25141	0.131000	0.20780	1.121000	0.31283	0.463000	0.27118	-0.226000	0.12346	ATG	OR1B1	-	NULL	ENSG00000171484		0.428	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1B1	HGNC	protein_coding	OTTHUMT00000053947.2		0	14	0	C	NM_001004450		125391809	-1			no_errors	ENST00000304833	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.752	T	T	125391809	C	T	125391809	3	4	91	1	0	0	0	0	1	0	0	0	10990	826	29	3	953	3	OR1B1	9	125391809	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	102543	125391809	15821622	233	26306											
TTC16	158248	genome.wustl.edu	37	chr9	130485567	130485567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactgcagcggatcaaccGtgccatcgagaacaaccctc	11	5	9	16	4	1	1	1	0	0	1	3	3	1	2	3	1	6	2	3	1	3	0	rs377723581		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:130485567G>A	ENST00000373289.3	+	7	907	c.827G>A	c.(826-828)cGt>cAt	p.R276H	TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Missense_Mutation_p.R100H|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	276										central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGGATCAACCGTGCCATCGAG	0.637													G|||	1	0.000199681	8e-04	0	5008	,	,		18898	0		0	False		,,,				2504	0																0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	93	72	79		827	3.2	1	9		79	0,8600		0,0,4300	no	missense	TTC16	NM_144965.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	276/874	130485567	2,13004	2203	4300	6503	SO:0001583	missense	0			AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"Tetratricopeptide (TTC) repeat domain containing"	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.827G>A	9.37:g.130485567G>A	ENSP00000362386:p.Arg276His		B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R276H	ENST00000373289.3	37	c.827	CCDS6875.1	9	.	.	.	.	.	.	.	.	.	.	G	4.516	0.095779	0.08681	4.54E-4	0.0	ENSG00000167094	ENST00000373289;ENST00000393748	T;T	0.64618	-0.11;0.12	5.03	3.17	0.36434	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.358768	0.27668	N	0.018352	T	0.49915	0.1585	L	0.41492	1.28	0.20764	N	0.999859	B;P;B	0.43909	0.241;0.821;0.241	B;B;B	0.41036	0.082;0.346;0.082	T	0.36696	-0.9737	10	0.14656	T	0.56	-6.6721	11.6839	0.51474	0.0:0.3445:0.6555:0.0	.	263;228;276	B4DZ42;B4DH05;Q8NEE8	.;.;TTC16_HUMAN	H	276;100	ENSP00000362386:R276H;ENSP00000377349:R100H	ENSP00000362386:R276H	R	+	2	0	TTC16	129525388	0.402000	0.25311	0.979000	0.43373	0.186000	0.23388	0.290000	0.18975	0.698000	0.31739	-0.467000	0.05162	CGT	TTC16	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000167094		0.637	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC16	HGNC	protein_coding	OTTHUMT00000054224.1	-	0	27	0	G	NM_144965		130485567	1	tier1	-	no_errors	ENST00000373289	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.985	A	A	130485567	G	A	130485567	3	1	91	1	0	0	0	0	1	0	0	0	16732	1145	40	1	853	1	TTC16	9	130485567	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5093758	130485567	10727864	234	26307											
SLC25A25	114789	genome.wustl.edu	37	chr9	130866068	130866068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaggtggggcaggggccGtatccagaacctgcacggcc	8	4	17	12	2	0	1	0	0	0	1	1	2	1	2	4	7	2	3	4	7	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:130866068G>A	ENST00000373064.5	+	5	858	c.595G>A	c.(595-597)Gta>Ata	p.V199I	SLC25A25_ENST00000373066.5_Missense_Mutation_p.V231I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.V219I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.V96I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.V245I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.V233I	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	199					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GGCAGGGGCCGTATCCAGAAC	0.632																																																	0													53	56	55					9																	130866068		2203	4300	6503	SO:0001583	missense	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.595G>A	9.37:g.130866068G>A	ENSP00000362155:p.Val199Ile		Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.V245I	ENST00000373064.5	37	c.733	CCDS6890.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.6|28.6	4.938107|4.938107	0.92526|0.92526	.|.	.|.	ENSG00000148339|ENSG00000148339	ENST00000466983|ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	.|T;T;T;T;T;T	.|0.78481	.|-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Mitochondrial carrier domain (2);	.|0.165424	.|0.52532	.|D	.|0.000063	T|T	0.82213|0.82213	0.4988|0.4988	L|L	0.51914|0.51914	1.62|1.62	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.61080	.|0.778;0.971;0.936;0.989	.|P;P;P;P	.|0.55055	.|0.483;0.592;0.471;0.767	T|T	0.80476|0.80476	-0.1366|-0.1366	5|10	.|0.37606	.|T	.|0.19	-8.0164|-8.0164	18.8156|18.8156	0.92076|0.92076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|199;231;219;233	.|Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	.|SCMC2_HUMAN;.;.;.	H|I	23|233;245;219;231;199;96	.|ENSP00000362159:V233I;ENSP00000362160:V245I;ENSP00000410053:V219I;ENSP00000362157:V231I;ENSP00000362155:V199I;ENSP00000401672:V96I	.|ENSP00000362155:V199I	R|V	+|+	2|1	0|0	SLC25A25|SLC25A25	129905889|129905889	1.000000|1.000000	0.71417|0.71417	0.201000|0.201000	0.23476|0.23476	0.931000|0.931000	0.56810|0.56810	9.869000|9.869000	0.99810|0.99810	2.684000|2.684000	0.91462|0.91462	0.650000|0.650000	0.86243|0.86243	CGT|GTA	SLC25A25	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	ENSG00000148339		0.632	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054407.1		0	34	0	G	NM_052901		130866068	1			no_errors	ENST00000373069	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.998	A	A	130866068	G	A	130866068	3	1	91	1	0	0	0	0	1	0	0	0	14533	1145	40	1	1101	1	SLC25A25	9	130866068	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	380501	130866068	10347363	235	26308											
C9orf119	375757	genome.wustl.edu	37	chr9	131046829	131046829	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgatgggaccagcgAggagtctctgcaccttgaca	9	7	13	12	1	1	2	0	2	1	0	2	5	1	4	3	3	2	2	3	3	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:131046829A>T	ENST00000320188.5	+	3	467	c.467A>T	c.(466-468)gAg>gTg	p.E156V	SWI5_ENST00000608796.1_Missense_Mutation_p.E91V|SWI5_ENST00000495313.1_Missense_Mutation_p.E60V|SWI5_ENST00000418976.1_Missense_Mutation_p.E51V|SWI5_ENST00000419867.2_Missense_Mutation_p.E91V	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	156					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											GGGACCAGCGAGGAGTCTCTG	0.507																																																	0													123	126	125					9																	131046829		1974	4174	6148	SO:0001583	missense	0			BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 119"	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.467A>T	9.37:g.131046829A>T	ENSP00000316609:p.Glu156Val		Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	pfam_DNA-repair_Swi5	p.E156V	ENST00000320188.5	37	c.467	CCDS43883.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.33|13.33	2.203787|2.203787	0.38905|0.38905	.|.	.|.	ENSG00000175854|ENSG00000175854	ENST00000320188|ENST00000495313;ENST00000372898	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.263587|.	0.35040|.	N|.	0.003488|.	T|T	0.55369|0.55369	0.1916|0.1916	M|M	0.70595|0.70595	2.14|2.14	0.29215|0.29215	N|N	0.874349|0.874349	D|.	0.71674|.	0.998|.	D|.	0.69824|.	0.966|.	T|T	0.57608|0.57608	-0.7782|-0.7782	9|5	0.33940|.	T|.	0.23|.	.|.	8.5261|8.5261	0.33307|0.33307	0.9128:0.0:0.0872:0.0|0.9128:0.0:0.0872:0.0	.|.	156|.	Q1ZZU3|.	SWI5_HUMAN|.	V|W	156|70;66	.|.	ENSP00000316609:E156V|.	E|R	+|+	2|1	0|2	SWI5|SWI5	130086650|130086650	0.601000|0.601000	0.26907|0.26907	0.136000|0.136000	0.22124|0.22124	0.090000|0.090000	0.18270|0.18270	1.867000|1.867000	0.39499|0.39499	2.209000|2.209000	0.71365|0.71365	0.533000|0.533000	0.62120|0.62120	GAG|AGG	SWI5	-	pfam_DNA-repair_Swi5	ENSG00000175854		0.507	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SWI5	HGNC	protein_coding		-	0	33	0	A	NM_001040011		131046829	1	tier1	-	no_errors	ENST00000320188	ensembl	human	known	74_37	missense	46.15	7	6	SNP	0.593	T	T	131046829	A	T	131046829	3	4	91	1	0	0	0	0	1	0	0	0	2459	304	11	5	477	5	C9orf119	9	131046829	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	180761	131046829	10166602	236	26309											
DBH	1621	genome.wustl.edu	37	chr9	136521726	136521726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggagctctgcaagagcGctgtggacgccggcttcctg	6	8	15	12	3	1	1	0	0	1	1	2	3	2	3	2	3	4	5	2	3	1	1	rs148439785	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:136521726G>A	ENST00000393056.2	+	10	1528	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	506					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTGCAAGAGCGCTGTGGACGC	0.612													G|||	4	0.000798722	0	0.0058	5008	,	,		17808	0		0	False		,,,				2504	0																0								G	THR/ALA	0,4406		0,0,2203	52	50	51		1516	-1	0	9	dbSNP_134	51	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DBH	NM_000787.3	58	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign	506/618	136521726	6,13000	2203	4300	6503	SO:0001583	missense	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.1516G>A	9.37:g.136521726G>A	ENSP00000376776:p.Ala506Thr		Q5T381|Q96AG2	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.A506T	ENST00000393056.2	37	c.1516	CCDS6977.2	9	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	9.520	1.108011	0.20714	0.0	6.98E-4	ENSG00000123454	ENST00000393056	T	0.77489	-1.1	4.63	-0.972	0.10300	PHM/PNGase F domain (1);Copper type II, ascorbate-dependent monooxygenase-like, C-terminal (1);	0.559070	0.20148	N	0.098235	T	0.48768	0.1518	L	0.35288	1.05	0.09310	N	1	B	0.22480	0.07	B	0.21708	0.036	T	0.27536	-1.0071	10	0.23891	T	0.37	-28.8823	0.8409	0.01149	0.2781:0.1168:0.3656:0.2395	.	506	P09172	DOPO_HUMAN	T	506	ENSP00000376776:A506T	ENSP00000376776:A506T	A	+	1	0	DBH	135511547	0.002000	0.14202	0.013000	0.15412	0.469000	0.32828	0.620000	0.24403	-0.177000	0.10690	0.491000	0.48974	GCT	DBH	-	superfamily_PHM/PNGase_F_dom	ENSG00000123454		0.612	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2		0	35	0	G	NM_000787		136521726	1			no_errors	ENST00000393056	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.006	A	A	136521726	G	A	136521726	3	1	91	1	0	0	0	0	1	0	0	0	4259	1087	38	1	1554	1	DBH	9	136521726	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5474897	136521726	4691705	237	26310											
KIAA0649	9858	genome.wustl.edu	37	chr9	138378543	138378543	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttcagcacagcccagacGcacttcttggagcagctggg	9	7	13	12	1	2	1	1	0	1	1	2	2	2	2	1	3	4	5	1	3	0	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr9:138378543G>A	ENST00000356818.2	+	4	2736	c.2187G>A	c.(2185-2187)acG>acA	p.T729T	PPP1R26_ENST00000604351.1_Silent_p.T729T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.T729T|PPP1R26_ENST00000401470.3_Silent_p.T729T|PPP1R26_ENST00000605286.1_Silent_p.T729T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	729					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CAGCCCAGACGCACTTCTTGG	0.602																																																	0													11	12	12					9																	138378543		2196	4295	6491	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2187G>A	9.37:g.138378543G>A			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.T729	ENST00000356818.2	37	c.2187	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.602	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1		0	13	0	G	NM_014811		138378543	1			no_errors	ENST00000356818	ensembl	human	known	74_37	silent	37.50	5	3	SNP	0.000	A	A	138378543	G	A	138378543	2	1	91	1	0	0	0	0	0	0	0	1	8214	1074	38	1		1	KIAA0649	9	138378543	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1856817	138378543	2834888	238	26311											
LARP4B	23185	genome.wustl.edu	37	chr10	860788	860788	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccgccaccttgggaTcactgtaaaaatgccacccg	9	10	8	14	2	2	0	1	0	1	0	3	1	2	1	5	1	1	2	5	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:860788T>A	ENST00000316157.3	-	16	1863	c.1823A>T	c.(1822-1824)gAt>gTt	p.D608V	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	608					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CACCTTGGGATCACTGTAAAA	0.527																																																	0													88	64	72					10																	860788		2203	4300	6503	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1823A>T	10.37:g.860788T>A	ENSP00000326128:p.Asp608Val		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.D608V	ENST00000316157.3	37	c.1823	CCDS31131.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	15.17|15.17|15.17	2.753347|2.753347|2.753347	0.49362|0.49362|0.49362	.|.|.	.|.|.	ENSG00000107929|ENSG00000107929|ENSG00000107929	ENST00000316157|ENST00000440895|ENST00000448368	T|.|.	0.33438|.|.	1.41|.|.	6.07|6.07|6.07	6.07|6.07|6.07	0.98685|0.98685|0.98685	.|.|.	0.310783|.|.	0.37577|.|.	N|.|.	0.002038|.|.	T|T|.	0.51295|0.51295|.	0.1666|0.1666|.	L|L|L	0.27053|0.27053|0.27053	0.805|0.805|0.805	0.80722|0.80722|0.80722	D|D|D	1|1|1	P|.|.	0.48834|.|.	0.916|.|.	P|.|.	0.45660|.|.	0.489|.|.	T|T|.	0.49214|0.49214|.	-0.8963|-0.8963|.	10|5|.	0.30854|.|.	T|.|.	0.27|.|.	-15.9523|-15.9523|-15.9523	11.8089|11.8089|11.8089	0.52171|0.52171|0.52171	0.0:0.0:0.146:0.854|0.0:0.0:0.146:0.854|0.0:0.0:0.146:0.854	.|.|.	608|.|.	Q92615|.|.	LAR4B_HUMAN|.|.	V|F|C	608|84|173	ENSP00000326128:D608V|.|.	ENSP00000326128:D608V|.|.	D|I|X	-|-|-	2|1|3	0|0|0	LARP4B|LARP4B|LARP4B	850788|850788|850788	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.976000|0.976000|0.976000	0.42696|0.42696|0.42696	0.056000|0.056000|0.056000	0.15407|0.15407|0.15407	4.013000|4.013000|4.013000	0.57138|0.57138|0.57138	2.326000|2.326000|2.326000	0.78906|0.78906|0.78906	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATC|TGA	LARP4B	-	NULL	ENSG00000107929		0.527	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2		0	28	0	T	NM_015155		860788	-1			no_errors	ENST00000316157	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.982	A	A	860788	T	A	860788	3	1	91	1	0	0	0	0	1	0	0	0	8659	1435	50	5	401	5	LARP4B	10	860788	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09		860788	134673959	239	26312											
ADARB2	105	genome.wustl.edu	37	chr10	1405730	1405730	+	Frame_Shift_Del	DEL	C	C	-																															tggcaggcgttggggaactgCacgaaggacctgagtgccag																								rs372200566		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:1405730delC	ENST00000381312.1	-	3	895	c.570delG	c.(568-570)gtgfs	p.V190fs	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	190	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGGGGAACTGCACGAAGGACC	0.697																																																	0													31	28	29					10																	1405730		2201	4299	6500	SO:0001589	frameshift_variant	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"RED2 homolog (rat)"	602065	"adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)", "adenosine deaminase, RNA-specific, B2"			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.570delG	10.37:g.1405730delC	ENSP00000370713:p.Val190fs		B2RPJ5|Q5VUT6|Q5VW42	Frame_Shift_Del	DEL	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.Q191fs	ENST00000381312.1	37	c.570	CCDS7058.1	10																																																																																			ADARB2	-	pfscan_dsRNA-bd_dom	ENSG00000185736		0.697	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1		0	15	0	C	NM_018702		1405730	-1	tier1		no_errors	ENST00000381312	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.918	-	-	1405730	C	-	1405730	7	5	91	1	0	1	0	1	0	0	0	0	283	697	25	0	1681	0	ADARB2	10	1405730	Frame_Shift_Del	DEL	C	TCGA-L5-A8NS-01A-12D-A37C-09	544942	1405730	134129017	240	26313											
CALML3	810	genome.wustl.edu	37	chr10	5567315	5567315	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagatccgcgaggcCttccgcgtgttcgacaagga	9	6	16	10	5	0	1	0	0	0	1	3	7	2	3	3	4	0	1	3	4	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:5567315C>A	ENST00000315238.1	+	1	392	c.267C>A	c.(265-267)gcC>gcA	p.A89A	CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000543008.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	89	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			endometrium(3)|lung(2)	5						TCCGCGAGGCCTTCCGCGTGT	0.652																																					Colon(173;2070 2647 27580 52203)												0													117	75	90					10																	5567315		2203	4300	6503	SO:0001819	synonymous_variant	0			X13461	CCDS7069.1	10p15.1	2013-01-10			ENSG00000178363	ENSG00000178363		"EF-hand domain containing"	1452	protein-coding gene	gene with protein product		114184				8476923	Standard	NM_005185		Approved	CLP	uc001iie.1	P27482	OTTHUMG00000017597	ENST00000315238.1:c.267C>A	10.37:g.5567315C>A			B2R9V6|Q5SQI4	Silent	SNP	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A89	ENST00000315238.1	37	c.267	CCDS7069.1	10																																																																																			CALML3	-	pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000178363		0.652	CALML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALML3	HGNC	protein_coding	OTTHUMT00000046555.1	-	0	37	0	C	NM_005185		5567315	1	tier1	-	no_errors	ENST00000315238	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.997	A	A	5567315	C	A	5567315	2	1	91	1	0	0	0	0	0	0	0	1	2594	668	24	3		3	CALML3	10	5567315	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4161585	5567315	129967432	241	26314											
C10orf18	54906	genome.wustl.edu	37	chr10	5804539	5804539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaaaatagtggaatcCttgttacagatgtaaataac	15	14	7	5	0	1	2	0	1	1	1	2	3	2	3	1	1	2	2	1	1	8	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:5804539C>G	ENST00000328090.5	+	20	7844	c.7219C>G	c.(7219-7221)Ctt>Gtt	p.L2407V	GDI2_ENST00000479928.1_5'Flank	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2407																	TAGTGGAATCCTTGTTACAGA	0.279																																																	0													61	60	60					10																	5804539		1787	4049	5836	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7219C>G	10.37:g.5804539C>G	ENSP00000328426:p.Leu2407Val		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.L2407V	ENST00000328090.5	37	c.7219	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661411	0.47572	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.06218	3.33	6.01	6.01	0.97437	.	0.104481	0.43260	D	0.000597	T	0.15132	0.0365	L	0.32530	0.975	0.37679	D	0.923402	D	0.89917	1.0	D	0.87578	0.998	T	0.04635	-1.0937	10	0.33940	T	0.23	.	13.2724	0.60167	0.0:0.9244:0.0:0.0756	.	2407	Q5VWN6	F208B_HUMAN	V	2407;1602	ENSP00000328426:L2407V	ENSP00000328426:L2407V	L	+	1	0	C10orf18	5844545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.733000	0.47360	2.861000	0.98227	0.650000	0.86243	CTT	FAM208B	-	NULL	ENSG00000108021		0.279	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	-	0	80	0	C	NM_017782		5804539	1	tier1	-	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	G	G	5804539	C	G	5804539	3	3	91	1	0	0	0	0	1	0	0	0	1601	681	24	5	7285	5	C10orf18	10	5804539	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	237224	5804539	129730208	242	26315											
PRKCQ	5588	genome.wustl.edu	37	chr10	6472851	6472851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaacaaagggtgctggCggatgtctcccctcacgccc	8	6	11	16	3	2	0	1	0	1	0	3	2	2	1	4	3	2	1	4	3	2	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:6472851C>T	ENST00000263125.5	-	17	1985	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	PRKCQ_ENST00000397176.2_Missense_Mutation_p.R566H|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R504H	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AGGGTGCTGGCGGATGTCTCC	0.587																																					Ovarian(50;572 1126 10530 25349 30594)												0													99	86	90					10																	6472851		2203	4300	6503	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1886G>A	10.37:g.6472851C>T	ENSP00000263125:p.Arg629His		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R629H	ENST00000263125.5	37	c.1886	CCDS7079.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.859626|4.859626	0.91433|0.91433	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.54071	.|0.59;0.59;0.59	5.05|5.05	4.14|4.14	0.48551|0.48551	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.111362	.|0.64402	.|D	.|0.000010	T|T	0.69602|0.69602	0.3129|0.3129	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.79108	.|0.973;0.984;0.992;0.983	T|T	0.73116|0.73116	-0.4084|-0.4084	5|10	.|0.72032	.|D	.|0.01	.|.	14.2694|14.2694	0.66143|0.66143	0.0:0.85:0.15:0.0|0.0:0.85:0.15:0.0	.|.	.|504;401;566;629	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	T|H	402|629;566;504	.|ENSP00000263125:R629H;ENSP00000380361:R566H;ENSP00000441752:R504H	.|ENSP00000263125:R629H	A|R	-|-	1|2	0|0	PRKCQ|PRKCQ	6512857|6512857	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.275000|7.275000	0.78548|0.78548	1.095000|1.095000	0.41419|0.41419	0.650000|0.650000	0.86243|0.86243	GCC|CGC	PRKCQ	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom	ENSG00000065675		0.587	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1		0	47	0	C	NM_006257		6472851	-1			no_errors	ENST00000263125	ensembl	human	known	74_37	missense	5.71	32	2	SNP	1.000	T	T	6472851	C	T	6472851	3	4	91	1	0	0	0	0	1	0	0	0	12557	768	27	1	242	1	PRKCQ	10	6472851	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	668312	6472851	129061896	243	26316											
PRKCQ	5588	genome.wustl.edu	37	chr10	6527138	6527138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccggtgtcggtaaacAtggcggccttgcttcatttt	5	16	10	10	3	1	0	1	0	0	0	3	0	2	0	2	4	2	2	2	4	2	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:6527138A>C	ENST00000263125.5	-	10	1093	c.994T>G	c.(994-996)Tgt>Ggt	p.C332G	PRKCQ_ENST00000397176.2_Missense_Mutation_p.C332G|PRKCQ_ENST00000539722.1_Missense_Mutation_p.C207G	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	332					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	GTCGGTAAACATGGCGGCCTT	0.458																																					Ovarian(50;572 1126 10530 25349 30594)												0													184	178	180					10																	6527138		2203	4300	6503	SO:0001583	missense	0			L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.994T>G	10.37:g.6527138A>C	ENSP00000263125:p.Cys332Gly		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C332G	ENST00000263125.5	37	c.994	CCDS7079.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.899|5.899	0.350011|0.350011	0.11182|0.11182	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000263125;ENST00000397176;ENST00000539722|ENST00000397178	T;T;T|.	0.67345|.	-0.25;-0.19;-0.26|.	5.22|5.22	-1.43|-1.43	0.08884|0.08884	.|.	1.063330|.	0.07274|.	N|.	0.869585|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.23404|0.23404	-1.0189|-1.0189	10|5	0.09590|.	T|.	0.72|.	.|.	1.7584|1.7584	0.02987|0.02987	0.3895:0.1524:0.3268:0.1313|0.3895:0.1524:0.3268:0.1313	.|.	207;104;332;332|.	B4DF52;Q5JUN8;Q04759-2;Q04759|.	.;.;.;KPCT_HUMAN|.	G|Q	332;332;207|104	ENSP00000263125:C332G;ENSP00000380361:C332G;ENSP00000441752:C207G|.	ENSP00000263125:C332G|.	C|H	-|-	1|3	0|2	PRKCQ|PRKCQ	6567144|6567144	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.402000|-0.402000	0.07223|0.07223	-0.190000|-0.190000	0.10465|0.10465	0.533000|0.533000	0.62120|0.62120	TGT|CAT	PRKCQ	-	pirsf_Prot_kin_PKC_delta	ENSG00000065675		0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCQ	HGNC	protein_coding	OTTHUMT00000046665.1		0	67	0	A	NM_006257		6527138	-1			no_errors	ENST00000263125	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.000	C	C	6527138	A	C	6527138	3	2	91	1	0	0	0	0	1	0	0	0	12557	217	8	4	1162	4	PRKCQ	10	6527138	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	54287	6527138	129007609	244	26317											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14951146	14951146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaatctacaaagtttGtgaaacgagagctctgcata	14	11	7	9	1	3	2	1	1	2	1	3	3	3	2	0	0	4	3	0	0	5	4	rs80148779		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:14951146G>A	ENST00000378278.2	-	14	1377	c.1340C>T	c.(1339-1341)aCa>aTa	p.T447I	DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T327I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T327I|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T332I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T100I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T327I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T332I|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T327I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T327I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T332I			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	447					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TACAAAGTTTGTGAAACGAGA	0.448								Non-homologous end-joining																																									0													105	99	101					10																	14951146		2203	4300	6503	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1340C>T	10.37:g.14951146G>A	ENSP00000367527:p.Thr447Ile		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.T447I	ENST00000378278.2	37	c.1340	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	G	3.600	-0.081723	0.07141	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	5.76	3.75	0.43078	.	1.236610	0.05046	N	0.477207	T	0.19565	0.0470	L	0.29908	0.895	0.09310	N	1	B;B	0.16396	0.017;0.001	B;B	0.13407	0.009;0.001	T	0.23261	-1.0193	10	0.22109	T	0.4	.	6.2377	0.20772	0.1026:0.0:0.5491:0.3484	.	332;447	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	I	327;332;332;332;327;327;327;447;327;100	ENSP00000400529:T327I;ENSP00000367492:T332I;ENSP00000350349:T332I;ENSP00000367496:T332I;ENSP00000380030:T327I;ENSP00000367503:T327I;ENSP00000367502:T327I;ENSP00000367527:T447I;ENSP00000367506:T327I;ENSP00000367488:T100I	ENSP00000350349:T332I	T	-	2	0	DCLRE1C	14991152	0.005000	0.15991	0.052000	0.19188	0.284000	0.27059	1.651000	0.37302	1.355000	0.45865	0.655000	0.94253	ACA	DCLRE1C	-	NULL	ENSG00000152457		0.448	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	40	0	G	NM_022487		14951146	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.011	A	A	14951146	G	A	14951146	3	1	91	1	0	0	0	0	1	0	0	0	4305	1377	48	3	742	3	DCLRE1C	10	14951146	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8424008	14951146	120583601	245	26318											
SLC39A12	221074	genome.wustl.edu	37	chr10	18282149	18282149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcacgtgggtcattccCaccatcttgcactcaactct	8	11	8	14	1	4	0	2	0	2	0	5	0	5	0	2	2	2	2	2	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:18282149C>A	ENST00000377369.2	+	9	1735	c.1462C>A	c.(1462-1464)Cac>Aac	p.H488N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.H487N|SLC39A12_ENST00000377374.4_Intron|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H354N	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	488					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGTCATTCCCACCATCTTGC	0.468																																																	0													205	155	170					10																	18282149		692	1591	2283	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"Solute carriers"	20860	protein-coding gene	gene with protein product		608734	"solute carrier family 39 (metal ion transporter), member 12"			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1462C>A	10.37:g.18282149C>A	ENSP00000366586:p.His488Asn		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.H488N	ENST00000377369.2	37	c.1462	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601993	0.66445	.	.	ENSG00000148482	ENST00000377369;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T	0.48201	0.82;0.83;0.82	5.42	4.52	0.55395	.	0.449996	0.25327	N	0.031469	T	0.68284	0.2984	M	0.90425	3.115	0.42346	D	0.992351	D;D	0.61697	0.974;0.99	P;P	0.60236	0.738;0.871	T	0.71941	-0.4440	10	0.14656	T	0.56	-4.8553	14.7688	0.69659	0.1452:0.8547:0.0:0.0	.	487;488	Q504Y0-4;Q504Y0	.;S39AC_HUMAN	N	488;487;354;408	ENSP00000366586:H488N;ENSP00000366588:H487N;ENSP00000440445:H354N	ENSP00000366586:H488N	H	+	1	0	SLC39A12	18322155	1.000000	0.71417	0.053000	0.19242	0.984000	0.73092	2.837000	0.48191	1.290000	0.44636	0.563000	0.77884	CAC	SLC39A12	-	pfam_ZIP	ENSG00000148482		0.468	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		-	0	51	0	C	NM_152725		18282149	1	tier1	-	no_errors	ENST00000377369	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.998	A	A	18282149	C	A	18282149	3	1	91	1	0	0	0	0	1	0	0	0	14660	594	21	3	1492	3	SLC39A12	10	18282149	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3331003	18282149	117252598	246	26319											
THNSL1	79896	genome.wustl.edu	37	chr10	25312532	25312532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttctctgcatctggaaGtgtgatttcccttactgggt	8	15	9	9	0	2	1	0	1	2	0	4	2	3	2	1	2	3	1	1	2	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:25312532G>T	ENST00000524413.1	+	3	727	c.380G>T	c.(379-381)aGt>aTt	p.S127I	THNSL1_ENST00000376356.4_Missense_Mutation_p.S127I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	127						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	GCATCTGGAAGTGTGATTTCC	0.388																																																	0													83	82	82					10																	25312532		2203	4300	6503	SO:0001583	missense	0			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"threonine synthase-like 1 (bacterial)"			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.380G>T	10.37:g.25312532G>T	ENSP00000434887:p.Ser127Ile		B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	pfam_Shikimate_kinase/TSH1,pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_P-loop_NTPase,prints_Shikimate_kinase/TSH1,tigrfam_Thr_synthase_like	p.S127I	ENST00000524413.1	37	c.380	CCDS7147.1	10	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682029	0.29872	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	T;T	0.43294	0.95;0.95	5.69	4.74	0.60224	.	0.148333	0.64402	D	0.000011	T	0.47893	0.1470	M	0.76170	2.325	0.44927	D	0.997949	B	0.18461	0.028	B	0.15052	0.012	T	0.52533	-0.8563	10	0.87932	D	0	-16.711	18.3077	0.90188	0.0:0.1286:0.8714:0.0	.	127	Q8IYQ7	THNS1_HUMAN	I	127	ENSP00000434887:S127I;ENSP00000365534:S127I	ENSP00000365534:S127I	S	+	2	0	THNSL1	25352538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.350000	0.66016	2.686000	0.91538	0.650000	0.86243	AGT	THNSL1	-	pfam_Shikimate_kinase/TSH1,superfamily_P-loop_NTPase	ENSG00000185875		0.388	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	THNSL1	HGNC	protein_coding	OTTHUMT00000394913.1		0	35	0	G	NM_024838		25312532	1			no_errors	ENST00000376356	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	T	T	25312532	G	T	25312532	3	4	91	1	0	0	0	0	1	0	0	0	15909	1029	36	3	382	3	THNSL1	10	25312532	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7030383	25312532	110222215	247	26320											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37490164	37490164	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatattacttttaacagaGtctccgtgagactgtttcac	10	16	7	8	1	2	3	1	2	1	2	3	4	2	3	1	0	2	1	1	0	3	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:37490164G>A	ENST00000602533.1	+	31	2711	c.2612G>A	c.(2611-2613)aGt>aAt	p.S871N	ANKRD30A_ENST00000361713.1_Splice_Site_p.S871N|ANKRD30A_ENST00000374660.1_Splice_Site_p.S990N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	927					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TTTTAACAGAGTCTCCGTGAG	0.284																																																	0													71	66	67					10																	37490164		1789	4053	5842	SO:0001630	splice_region_variant	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2611-1G>A	10.37:g.37490164G>A			Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S871N	ENST00000602533.1	37	c.2612		10	.	.	.	.	.	.	.	.	.	.	g	0.062	-1.221548	0.01530	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06371	3.31;3.31	1.38	-0.688	0.11317	.	.	.	.	.	T	0.03564	0.0102	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.10450	0.005	T	0.48281	-0.9049	9	0.15066	T	0.55	.	4.5107	0.11910	0.4061:0.0:0.5939:0.0	.	927	Q9BXX3	AN30A_HUMAN	N	871;990	ENSP00000354432:S871N;ENSP00000363792:S990N	ENSP00000354432:S871N	S	+	2	0	ANKRD30A	37530170	0.771000	0.28555	0.079000	0.20413	0.013000	0.08279	0.132000	0.15891	-0.250000	0.09555	-0.908000	0.02827	AGT	ANKRD30A	-	NULL	ENSG00000148513		0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0	74	0	G	NM_052997	Missense_Mutation	37490164	1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.093	A	A	37490164	G	A	37490164	5	1	91	1	0	0	0	0	0	0	1	0	658	1043	36	3	2734	3	ANKRD30A	10	37490164	Splice_Site	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	12177632	37490164	98044583	248	26321											
ZNF485	220992	genome.wustl.edu	37	chr10	44112087	44112087	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagttcctgaagaagcactCaacgtttatcaaccatcaga	15	9	7	10	1	3	3	3	1	0	2	4	4	4	3	2	0	3	3	2	0	6	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:44112087C>G	ENST00000361807.3	+	5	790	c.596C>G	c.(595-597)tCa>tGa	p.S199*	ZNF485_ENST00000374437.2_Nonsense_Mutation_p.S108*|ZNF485_ENST00000374435.3_Nonsense_Mutation_p.S199*	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AAGAAGCACTCAACGTTTATC	0.378																																																	0													74	76	75					10																	44112087		2203	4300	6503	SO:0001587	stop_gained	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.596C>G	10.37:g.44112087C>G	ENSP00000354694:p.Ser199*		B4DSE6|Q96CL0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S199*	ENST00000361807.3	37	c.596	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088729	0.55968	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	.	.	.	2.34	0.44	0.16572	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.0093	0.19567	0.0:0.7075:0.0:0.2925	.	.	.	.	X	199;108;199	.	ENSP00000354694:S199X	S	+	2	0	ZNF485	43432093	0.000000	0.05858	0.173000	0.22940	0.508000	0.34012	0.900000	0.28431	0.104000	0.17725	-0.379000	0.06801	TCA	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.378	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2		0	44	0	C	NM_145312		44112087	1			no_errors	ENST00000361807	ensembl	human	known	74_37	nonsense	6.45	29	2	SNP	0.552	G	G	44112087	C	G	44112087	4	3	91	1	0	0	0	0	0	1	0	0	17986	838	29	5	610	5	ZNF485	10	44112087	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6621923	44112087	91422660	249	26322											
PHYHIPL	84457	genome.wustl.edu	37	chr10	60994184	60994184	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggaaatggattcaaaatCaaaggatcgcattacacact	17	9	8	7	1	2	0	2	0	0	0	3	3	2	3	0	3	1	1	0	3	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:60994184C>G	ENST00000373880.4	+	2	491	c.227C>G	c.(226-228)tCa>tGa	p.S76*	PHYHIPL_ENST00000373878.3_Nonsense_Mutation_p.S50*	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	76	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GATTCAAAATCAAAGGATCGC	0.338																																																	0													107	95	99					10																	60994184		2203	4300	6503	SO:0001587	stop_gained	0			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.227C>G	10.37:g.60994184C>G	ENSP00000362987:p.Ser76*		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S76*	ENST00000373880.4	37	c.227	CCDS7254.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.646211	0.97730	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	.	.	.	5.62	5.62	0.85841	.	0.184743	0.38058	N	0.001831	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-40.441	20.024	0.97514	0.0:1.0:0.0:0.0	.	.	.	.	X	76;50	.	ENSP00000362985:S50X	S	+	2	0	PHYHIPL	60664190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.021000	0.41020	2.809000	0.96659	0.655000	0.94253	TCA	PHYHIPL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165443		0.338	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHIPL	HGNC	protein_coding	OTTHUMT00000048156.1	-	0	36	0	C	NM_032439		60994184	1	tier1	-	no_errors	ENST00000373880	ensembl	human	known	74_37	nonsense	22.86	27	8	SNP	1.000	G	G	60994184	C	G	60994184	4	3	91	1	0	0	0	0	0	1	0	0	11906	838	29	5	265	5	PHYHIPL	10	60994184	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	16882097	60994184	74540563	250	26323											
TET1	80312	genome.wustl.edu	37	chr10	70405161	70405161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaacattggagcaagtggTagccatagaggccctgactc	12	9	11	9	0	0	2	0	1	0	1	1	3	0	3	2	3	3	2	2	3	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:70405161T>C	ENST00000373644.4	+	4	2884	c.2675T>C	c.(2674-2676)gTa>gCa	p.V892A		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	892					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGCAAGTGGTAGCCATAGAG	0.448																																																	0													109	115	113					10																	70405161		2202	4299	6501	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.2675T>C	10.37:g.70405161T>C	ENSP00000362748:p.Val892Ala		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.V892A	ENST00000373644.4	37	c.2675	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898411	0.72639	.	.	ENSG00000138336	ENST00000373644	T	0.12147	2.71	5.79	4.65	0.58169	.	0.245012	0.26665	N	0.023140	T	0.14485	0.0350	L	0.34521	1.04	0.32904	D	0.513626	D	0.58268	0.982	P	0.46885	0.53	T	0.11916	-1.0568	10	0.72032	D	0.01	.	11.0277	0.47755	0.1386:0.0:0.0:0.8614	.	892	Q8NFU7	TET1_HUMAN	A	892	ENSP00000362748:V892A	ENSP00000362748:V892A	V	+	2	0	TET1	70075167	1.000000	0.71417	0.973000	0.42090	0.997000	0.91878	5.030000	0.64128	0.999000	0.39023	0.455000	0.32223	GTA	TET1	-	NULL	ENSG00000138336		0.448	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	-	0	48	0	T	NM_030625		70405161	1	tier1	-	no_errors	ENST00000373644	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.978	C	C	70405161	T	C	70405161	3	2	91	1	0	0	0	0	1	0	0	0	15816	1638	57	4	2685	4	TET1	10	70405161	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	9410977	70405161	65129586	251	26324											
STOX1	219736	genome.wustl.edu	37	chr10	70646130	70646130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatctttgattactatagcGcaagaaaagccagttttgaa	15	12	8	6	1	1	3	0	2	1	1	1	4	1	3	1	0	3	2	1	0	8	6	rs201329017		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:70646130G>C	ENST00000298596.6	+	3	2661	c.2578G>C	c.(2578-2580)Gca>Cca	p.A860P	STOX1_ENST00000399169.4_Missense_Mutation_p.A860P|STOX1_ENST00000421961.2_Missense_Mutation_p.A750P|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	860						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TTACTATAGCGCAAGAAAAGC	0.443																																																	0													84	83	84					10																	70646130		2007	4208	6215	SO:0001583	missense	0			AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"chromosome 10 open reading frame 24"	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2578G>C	10.37:g.70646130G>C	ENSP00000298596:p.Ala860Pro		A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	pfam_Storkhead-box_winged-helix	p.A860P	ENST00000298596.6	37	c.2578	CCDS41535.1	10	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604641	0.14002	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.65364	-0.15;-0.15;-0.15	6.17	-0.625	0.11548	.	0.603254	0.18611	N	0.136143	T	0.39682	0.1087	N	0.08118	0	0.09310	N	1	D	0.55385	0.971	P	0.46320	0.512	T	0.40515	-0.9559	10	0.66056	D	0.02	.	5.9317	0.19142	0.3639:0.0:0.4232:0.2129	.	860	Q6ZVD7	STOX1_HUMAN	P	860;860;750	ENSP00000382121:A860P;ENSP00000298596:A860P;ENSP00000394509:A750P	ENSP00000298596:A860P	A	+	1	0	STOX1	70316136	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.049000	0.11924	-0.292000	0.08999	-0.982000	0.02568	GCA	STOX1	-	NULL	ENSG00000165730		0.443	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX1	HGNC	protein_coding	OTTHUMT00000276849.3	-	0	25	0	G	NM_152709		70646130	1	tier1	-	no_errors	ENST00000298596	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.001	C	C	70646130	G	C	70646130	3	2	91	1	0	0	0	0	1	0	0	0	15366	1087	38	5	2588	5	STOX1	10	70646130	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	240969	70646130	64888617	252	26325											
OIT3	170392	genome.wustl.edu	37	chr10	74684281	74684281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaagcttcgtgactccCtctactttggcattgagccc	6	12	7	16	1	2	2	1	2	1	0	4	2	3	2	3	1	3	2	3	1	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:74684281C>T	ENST00000334011.5	+	7	1464	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	416	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCGTGACTCCCTCTACTTTGG	0.542																																					Colon(7;19 345 13446 17537)												0													125	114	118					10																	74684281		2203	4300	6503	SO:0001583	missense	0				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.1246C>T	10.37:g.74684281C>T	ENSP00000333900:p.Leu416Phe		A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.L416F	ENST00000334011.5	37	c.1246	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339308	0.81911	.	.	ENSG00000138315	ENST00000334011	D	0.85702	-2.02	5.5	5.5	0.81552	Zona pellucida sperm-binding protein (3);	0.000000	0.50627	D	0.000118	D	0.91274	0.7249	M	0.71036	2.16	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.91874	0.5510	10	0.87932	D	0	-31.4928	13.6568	0.62344	0.0:0.9256:0.0:0.0744	.	416	Q8WWZ8	OIT3_HUMAN	F	416	ENSP00000333900:L416F	ENSP00000333900:L416F	L	+	1	0	OIT3	74354287	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.711000	0.61881	2.574000	0.86865	0.563000	0.77884	CTC	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom	ENSG00000138315		0.542	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1		0	35	0	C	NM_152635		74684281	1			no_errors	ENST00000334011	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T	T	74684281	C	T	74684281	3	4	91	1	0	0	0	0	1	0	0	0	10888	681	24	3	1272	3	OIT3	10	74684281	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4038151	74684281	60850466	253	26326											
USP54	159195	genome.wustl.edu	37	chr10	75305350	75305350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaaacgttgttcatcctgGaaagtctttgccagagcact	10	12	10	9	1	2	1	1	0	1	1	3	3	3	3	2	2	3	3	2	2	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:75305350G>A	ENST00000339859.4	-	4	421	c.321C>T	c.(319-321)ttC>ttT	p.F107F	USP54_ENST00000319786.7_Silent_p.F107F|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000408019.1_Silent_p.F107F|USP54_ENST00000428547.1_Silent_p.F107F|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	107	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTCATCCTGGAAAGTCTTTG	0.483																																					Colon(195;880 2046 8854 25025 38456)												0													95	93	94					10																	75305350		1980	4163	6143	SO:0001819	synonymous_variant	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"Ubiquitin-specific peptidases"	23513	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 29", "ubiquitin specific protease 54"	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.321C>T	10.37:g.75305350G>A			A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.F107	ENST00000339859.4	37	c.321	CCDS7329.2	10																																																																																			USP54	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000166348		0.483	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2		0	58	0	G	NM_152586		75305350	-1			no_errors	ENST00000339859	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	A	A	75305350	G	A	75305350	2	1	91	1	0	0	0	0	0	0	0	1	17134	1165	41	3		3	USP54	10	75305350	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	621069	75305350	60229397	254	26327											
AP3M1	26985	genome.wustl.edu	37	chr10	75898113	75898113	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatatgtcaccggaacagtTtatgagaaatagactgtgga	16	10	10	5	1	1	2	1	1	0	2	1	5	1	4	1	2	1	1	1	2	6	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:75898113T>A	ENST00000355264.4	-	2	336	c.25A>T	c.(25-27)Aac>Tac	p.N9Y	AP3M1_ENST00000372745.1_Missense_Mutation_p.N9Y|AP3M1_ENST00000487653.1_5'UTR	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	9					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CCGGAACAGTTTATGAGAAAT	0.348																																																	0													61	63	62					10																	75898113		2203	4300	6503	SO:0001583	missense	0			AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.25A>T	10.37:g.75898113T>A	ENSP00000347408:p.Asn9Tyr		Q5JQ12|Q9H5L2	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.N9Y	ENST00000355264.4	37	c.25	CCDS7342.1	10	.	.	.	.	.	.	.	.	.	.	T	27.0	4.788020	0.90367	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	T;T	0.78924	-1.22;-1.22	5.82	5.82	0.92795	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.90672	0.7074	M	0.92169	3.28	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.91;0.981	D	0.92828	0.6278	10	0.87932	D	0	.	16.19	0.81981	0.0:0.0:0.0:1.0	.	9;9	B4DRN6;Q9Y2T2	.;AP3M1_HUMAN	Y	9	ENSP00000347408:N9Y;ENSP00000361831:N9Y	ENSP00000347408:N9Y	N	-	1	0	AP3M1	75568119	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.698000	0.84413	2.225000	0.72522	0.460000	0.39030	AAC	AP3M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000185009		0.348	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3M1	HGNC	protein_coding	OTTHUMT00000048747.1	-	0	31	0	T			75898113	-1	tier1	-	no_errors	ENST00000355264	ensembl	human	known	74_37	missense	15.00	17	3	SNP	1.000	A	A	75898113	T	A	75898113	3	1	91	1	0	0	0	0	1	0	0	0	747	1841	64	5	1263	5	AP3M1	10	75898113	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	592763	75898113	59636634	255	26328											
GRID1	2894	genome.wustl.edu	37	chr10	87482894	87482894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagttcacggaagattcGccacctgcgggaggcagaca	11	6	14	10	3	1	2	1	0	0	2	2	5	1	5	2	4	1	2	2	4	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:87482894G>A	ENST00000327946.7	-	12	1948	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	GRID1_ENST00000536331.1_Silent_p.G192G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	621					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CGGAAGATTCGCCACCTGCGG	0.602										Multiple Myeloma(13;0.14)																																							0													97	72	80					10																	87482894		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1863C>T	10.37:g.87482894G>A			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G621	ENST00000327946.7	37	c.1863	CCDS31236.1	10																																																																																			GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.602	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3		0	19	0	G	XM_043613		87482894	-1			no_errors	ENST00000327946	ensembl	human	known	74_37	silent	50.00	2	2	SNP	0.000	A	A	87482894	G	A	87482894	2	1	91	1	0	0	0	0	0	0	0	1	6798	1074	38	1		1	GRID1	10	87482894	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	11584781	87482894	48051853	256	26329											
PAPSS2	9060	genome.wustl.edu	37	chr10	89474760	89474760	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacattgtaccctatactAtaatcaaagatatccacgaa	18	10	4	9	1	1	2	1	0	0	2	2	3	2	2	2	0	3	1	2	0	9	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:89474760A>C	ENST00000361175.4	+	6	1027	c.658A>C	c.(658-660)Ata>Cta	p.I220L	PAPSS2_ENST00000427144.2_Missense_Mutation_p.I224L|PAPSS2_ENST00000456849.1_Missense_Mutation_p.I220L	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	220					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		ACCCTATACTATAATCAAAGA	0.368																																																	0													75	73	73					10																	89474760		2203	4300	6503	SO:0001583	missense	0			AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.658A>C	10.37:g.89474760A>C	ENSP00000354436:p.Ile220Leu		Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.I220L	ENST00000361175.4	37	c.658	CCDS7385.1	10	.	.	.	.	.	.	.	.	.	.	A	1.018	-0.685858	0.03328	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.21191	2.02;2.02;2.02	6.06	-7.21	0.01490	PUA-like domain (1);	0.995545	0.08163	N	0.988206	T	0.13030	0.0316	L	0.28344	0.845	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.12837	0.001;0.008	T	0.38478	-0.9659	10	0.15066	T	0.55	-0.1831	15.8035	0.78473	0.2468:0.0:0.6593:0.0939	.	220;220	O95340;O95340-2	PAPS2_HUMAN;.	L	220;220;224;219	ENSP00000354436:I220L;ENSP00000406157:I220L;ENSP00000397123:I224L	ENSP00000354436:I220L	I	+	1	0	PAPSS2	89464740	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.163000	0.09997	-1.320000	0.02283	-0.256000	0.11100	ATA	PAPSS2	-	superfamily_PUA-like_domain	ENSG00000198682		0.368	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS2	HGNC	protein_coding	OTTHUMT00000049229.1		0	51	0	A			89474760	1			no_errors	ENST00000456849	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.000	C	C	89474760	A	C	89474760	3	2	91	1	0	0	0	0	1	0	0	0	11474	449	16	4	680	4	PAPSS2	10	89474760	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	1991866	89474760	46059987	257	26330											
ACTA2	59	genome.wustl.edu	37	chr10	90708587	90708587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggacgtcccacaatggatGggaaaacagccctgggagca	12	5	14	10	1	0	0	0	0	0	0	1	4	1	4	2	4	3	1	2	4	3	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:90708587G>T	ENST00000458208.1	-	2	575	c.101C>A	c.(100-102)cCa>cAa	p.P34Q	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.P34Q|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	34					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CACAATGGATGGGAAAACAGC	0.502																																																	0													126	119	121					10																	90708587		2203	4300	6503	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.101C>A	10.37:g.90708587G>T	ENSP00000402373:p.Pro34Gln		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.P34Q	ENST00000458208.1	37	c.101	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946085	0.73672	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000415557;ENST00000458159	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	D	0.98950	0.9643	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.97110	1.0;0.992	D	0.99548	1.0965	10	0.87932	D	0	.	18.4001	0.90513	0.0:0.0:1.0:0.0	.	34;34	B7Z6I1;P62736	.;ACTA_HUMAN	Q	34	ENSP00000224784:P34Q;ENSP00000402373:P34Q;ENSP00000396730:P34Q;ENSP00000398239:P34Q	ENSP00000224784:P34Q	P	-	2	0	ACTA2	90698567	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.688000	0.91661	0.650000	0.86243	CCA	ACTA2	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000107796		0.502	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1		0	55	0	G	NM_001613		90708587	-1			no_errors	ENST00000224784	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	90708587	G	T	90708587	3	4	91	1	0	0	0	0	1	0	0	0	192	1348	47	3	1064	3	ACTA2	10	90708587	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1233827	90708587	44826160	258	26331											
IFIT5	24138	genome.wustl.edu	37	chr10	91177056	91177056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagacattgatctgtttgagGtagaagatacaattgggcaa	15	11	11	4	0	1	5	0	2	1	3	1	5	1	5	0	2	1	3	0	2	6	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:91177056G>A	ENST00000371795.4	+	2	313	c.100G>A	c.(100-102)Gta>Ata	p.V34I	LIPA_ENST00000371837.1_5'Flank|IFIT5_ENST00000416601.1_Missense_Mutation_p.V34I	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	34					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						TCTGTTTGAGGTAGAAGATAC	0.368																																																	0													86	89	88					10																	91177056		2203	4300	6503	SO:0001583	missense	0			U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"Tetratricopeptide (TTC) repeat domain containing"	13328	protein-coding gene	gene with protein product	"retinoic acid- and interferon-inducible protein (58kD)"					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.100G>A	10.37:g.91177056G>A	ENSP00000360860:p.Val34Ile		B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V34I	ENST00000371795.4	37	c.100	CCDS7403.1	10	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042246	0.35989	.	.	ENSG00000152778	ENST00000371795;ENST00000416601	T;T	0.41400	1.0;1.0	6.03	1.74	0.24563	.	0.359282	0.29707	N	0.011411	T	0.16599	0.0399	N	0.08118	0	0.09310	N	0.99999	P;P	0.35844	0.524;0.524	B;B	0.31946	0.138;0.138	T	0.07028	-1.0794	10	0.45353	T	0.12	-12.1513	3.1861	0.06601	0.0835:0.2907:0.3774:0.2484	.	34;34	Q13325;B4DDV1	IFIT5_HUMAN;.	I	34	ENSP00000360860:V34I;ENSP00000414042:V34I	ENSP00000360860:V34I	V	+	1	0	IFIT5	91167036	0.013000	0.17824	0.998000	0.56505	0.872000	0.50106	0.170000	0.16663	1.495000	0.48549	0.655000	0.94253	GTA	IFIT5	-	NULL	ENSG00000152778		0.368	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT5	HGNC	protein_coding	OTTHUMT00000049303.1		0	37	0	G	NM_012420		91177056	1			no_errors	ENST00000371795	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.373	A	A	91177056	G	A	91177056	3	1	91	1	0	0	0	0	1	0	0	0	7552	1261	44	3	106	3	IFIT5	10	91177056	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	468469	91177056	44357691	259	26332											
TNKS2	80351	genome.wustl.edu	37	chr10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A																															tagcatggtgcagaccctacINSaaaaaaaaacagggatggaa																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs		B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1856_1857	CCDS7417.1	10																																																																																			TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107854		0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1		0	47	0	0	NM_025235		93601946	1			no_errors	ENST00000371627	ensembl	human	known	74_37	frame_shift_ins	6.06	31	2	INS	1.000:0.997	A	A	93601946	-	A	93601945	7	5	91	1	0	1	1	0	0	0	0	0	16368	478	17	0	1918	0	TNKS2	10	93601945	Frame_Shift_Ins	INS	-	TCGA-L5-A8NS-01A-12D-A37C-09	2424889	93601945	41932802	260	26333											
IDE	3416	genome.wustl.edu	37	chr10	94223528	94223528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagatgatttctccccaGtatttagcacactcagcaga	11	11	9	10	0	2	3	1	1	1	2	3	4	2	3	2	1	2	3	2	1	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:94223528G>A	ENST00000265986.6	-	21	2777	c.2721C>T	c.(2719-2721)taC>taT	p.Y907Y	IDE_ENST00000371581.5_Silent_p.Y352Y|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	907					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TTTCTCCCCAGTATTTAGCAC	0.398																																																	0													175	169	171					10																	94223528		2203	4300	6503	SO:0001819	synonymous_variant	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2721C>T	10.37:g.94223528G>A			B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.Y907	ENST00000265986.6	37	c.2721	CCDS7421.1	10																																																																																			IDE	-	superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.398	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1		0	55	0	G	NM_004969		94223528	-1			no_errors	ENST00000265986	ensembl	human	known	74_37	silent	9.09	20	2	SNP	0.993	A	A	94223528	G	A	94223528	2	1	91	1	0	0	0	0	0	0	0	1	7520	1024	36	3		3	IDE	10	94223528	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	621583	94223528	41311219	261	26334											
FRA10AC1	118924	genome.wustl.edu	37	chr10	95451832	95451832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataatttatcatagtatttCttagcaagtctcttctccct	11	18	3	9	0	4	0	1	0	3	0	6	0	4	0	1	0	1	2	1	0	7	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:95451832C>G	ENST00000359204.4	-	7	596	c.399G>C	c.(397-399)aaG>aaC	p.K133N	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K133N|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K133N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K133N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	133	Lys-rich.					nucleus (GO:0005634)		p.K133N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CATAGTATTTCTTAGCAAGTC	0.299																																																	2	Substitution - Missense(2)	large_intestine(2)											39	43	42					10																	95451832		2188	4274	6462	SO:0001583	missense	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"chromosome 10 open reading frame 4"	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.399G>C	10.37:g.95451832C>G	ENSP00000360488:p.Lys133Asn		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.K133N	ENST00000359204.4	37	c.399	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553939	0.65425	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.28666	1.61;1.64;1.6;1.61	5.49	3.65	0.41850	.	0.088857	0.85682	D	0.000000	T	0.55417	0.1919	M	0.89968	3.075	0.53688	D	0.999977	D;D	0.54207	0.962;0.965	P;P	0.57620	0.558;0.824	T	0.62900	-0.6756	10	0.72032	D	0.01	-25.3316	11.5829	0.50902	0.0:0.8561:0.0:0.1439	.	133;133	Q70Z53-2;Q70Z53	.;F10C1_HUMAN	N	133	ENSP00000360488:K133N;ENSP00000438405:K133N;ENSP00000360484:K133N;ENSP00000377660:K133N	ENSP00000360488:K133N	K	-	3	2	FRA10AC1	95441822	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.386000	0.44380	0.684000	0.31448	0.585000	0.79938	AAG	FRA10AC1	-	pfam_Folate-sensitive_fs_Fra10Ac1	ENSG00000148690		0.299	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1		0	40	0	C	NM_145246		95451832	-1			no_errors	ENST00000359204	ensembl	human	known	74_37	missense	8.70	21	2	SNP	1.000	G	G	95451832	C	G	95451832	3	3	91	1	0	0	0	0	1	0	0	0	6065	912	32	5	580	5	FRA10AC1	10	95451832	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1228304	95451832	40082915	262	26335											
HELLS	3070	genome.wustl.edu	37	chr10	96352185	96352185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacaaatgacaagcatgttgGacattttgatggattactgc	13	12	9	7	0	0	2	0	2	0	0	0	4	0	4	0	2	3	2	0	2	3	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:96352185G>A	ENST00000348459.5	+	17	1990	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.D531N|HELLS_ENST00000371332.4_Missense_Mutation_p.D675N	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAGCATGTTGGACATTTTGAT	0.328																																																	0													86	84	84					10																	96352185		2203	4300	6503	SO:0001583	missense	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6", "proliferation-associated SNF2-like protein"	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1885G>A	10.37:g.96352185G>A	ENSP00000239027:p.Asp629Asn			Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D675N	ENST00000348459.5	37	c.2023	CCDS7434.1	10	.	.	.	.	.	.	.	.	.	.	G	29.3	4.993253	0.93167	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000371332;ENST00000371327	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.83	5.83	0.93111	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.84138	0.5406	L	0.36672	1.1	0.80722	D	1	D;D;D;P;D	0.89917	0.992;0.995;0.966;0.687;1.0	P;D;P;B;D	0.75484	0.898;0.925;0.872;0.189;0.986	D	0.85142	0.0981	10	0.87932	D	0	-17.1327	19.1118	0.93319	0.0:0.0:1.0:0.0	.	613;629;499;531;629	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	N	629;531;675;66	ENSP00000239027:D629N;ENSP00000377609:D531N;ENSP00000360383:D675N;ENSP00000360378:D66N	ENSP00000239027:D629N	D	+	1	0	HELLS	96342175	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.588000	0.98232	2.746000	0.94184	0.563000	0.77884	GAC	HELLS	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000119969		0.328	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1	-	0	37	0	G	NM_018063		96352185	1	tier1	-	no_errors	ENST00000371332	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	A	A	96352185	G	A	96352185	3	1	91	1	0	0	0	0	1	0	0	0	7073	1174	41	3	1951	3	HELLS	10	96352185	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	900353	96352185	39182562	263	26336											
FAM178A	55719	genome.wustl.edu	37	chr10	102676648	102676648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcactaaagaaaaaacatcGatccccagagagaaggaagt	19	5	9	8	1	1	3	1	0	0	3	3	6	2	4	2	1	1	0	2	1	7	1	rs564996877		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:102676648G>A	ENST00000238961.4	+	3	1048	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	FAM178A_ENST00000370269.3_Missense_Mutation_p.R169Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.R169Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	169						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											AAAAAACATCGATCCCCAGAG	0.383													G|||	1	0.000199681	0	0	5008	,	,		20539	0.001		0	False		,,,				2504	0																0													58	58	58					10																	102676648		2203	4300	6503	SO:0001583	missense	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"chromosome 10 open reading frame 6"	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.506G>A	10.37:g.102676648G>A	ENSP00000238961:p.Arg169Gln		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.R169Q	ENST00000238961.4	37	c.506	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	G	6.473	0.455527	0.12283	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.51817	0.69;1.35;1.34	5.84	-3.49	0.04724	.	1.057950	0.07426	N	0.894930	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B;B;B	0.20261	0.002;0.005;0.043	B;B;B	0.14578	0.003;0.003;0.011	T	0.23368	-1.0190	10	0.17832	T	0.49	0.0445	7.9306	0.29899	0.5862:0.1197:0.2941:0.0	.	169;169;169	Q8IX21;B1AL17;B1AL16	F178A_HUMAN;.;.	Q	169	ENSP00000359294:R169Q;ENSP00000238961:R169Q;ENSP00000359292:R169Q	ENSP00000238961:R169Q	R	+	2	0	FAM178A	102666638	0.000000	0.05858	0.308000	0.25141	0.188000	0.23474	-0.212000	0.09319	-0.425000	0.07371	-0.140000	0.14226	CGA	FAM178A	-	NULL	ENSG00000119906		0.383	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	-	0	27	0	G			102676648	1	tier1	-	no_errors	ENST00000370269	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.028	A	A	102676648	G	A	102676648	3	1	91	1	0	0	0	0	1	0	0	0	5522	1058	37	1	516	1	FAM178A	10	102676648	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	6324463	102676648	32858099	264	26337											
TCF7L2	6934	genome.wustl.edu	37	chr10	114849212	114849212	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcacttctaccccccCtcagacttcactgtcagcac	8	10	5	18	0	5	1	4	0	1	1	5	1	5	1	3	0	3	2	3	0	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr10:114849212C>T	ENST00000355995.4	+	5	1059				TCF7L2_ENST00000352065.5_Intron|TCF7L2_ENST00000369397.4_Intron|TCF7L2_ENST00000369395.1_Silent_p.P180P|TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000534894.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000536810.1_Intron|TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000355717.4_Silent_p.P179P|TCF7L2_ENST00000349937.2_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TCTACCCCCCCTCAGACTTCA	0.562			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													54	49	51					10																	114849212		1568	3582	5150	SO:0001627	intron_variant	0			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.552+49327C>T	10.37:g.114849212C>T			B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P179	ENST00000355995.4	37	c.537		10																																																																																			TCF7L2	-	pfam_CTNNB1-bd_N	ENSG00000148737		0.562	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		-	0	28	0	C	NM_030756		114849212	1	tier1	-	no_errors	ENST00000355717	ensembl	human	known	74_37	silent	25.00	18	6	SNP	1.000	T	T	114849212	C	T	114849212	1	4	91	0	1	0	0	0	0	0	0	0	15745	668	24	3		3	TCF7L2	10	114849212	Intron	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	12172564	114849212	20685535	265	26338											
MUC5B	727897	genome.wustl.edu	37	chr11	1272862	1272862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctgccaaccttcagcGtgtccactgtgtcctcctca	6	10	8	17	1	2	0	2	0	0	0	5	0	5	0	6	0	4	1	6	0	1	1	rs377582994		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:1272862G>A	ENST00000529681.1	+	31	14810	c.14752G>A	c.(14752-14754)Gtg>Atg	p.V4918M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V4921M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4918	Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AACCTTCAGCGTGTCCACTGT	0.632																																																	0								G	MET/VAL	1,4343		0,1,2171	60	71	67		14752	-7.2	0	11		67	1,8509		0,1,4254	no	missense	MUC5B	NM_002458.2	21	0,2,6425	AA,AG,GG		0.0118,0.023,0.0156	benign	4918/5763	1272862	2,12852	2172	4255	6427	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14752G>A	11.37:g.1272862G>A	ENSP00000436812:p.Val4918Met		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V4921M	ENST00000529681.1	37	c.14761	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	5.088	0.201895	0.09652	2.3E-4	1.18E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.36	3.63	-7.15	0.01521	.	.	.	.	.	T	0.07007	0.0178	N	0.11255	0.115	0.09310	N	1	B;B	0.27117	0.168;0.168	B;B	0.15052	0.012;0.012	T	0.30208	-0.9986	9	0.87932	D	0	.	0.6236	0.00782	0.3767:0.1181:0.1835:0.3218	.	5240;4921	A7Y9J9;E9PBJ0	.;.	M	4918;4921;4862;4617	ENSP00000436812:V4918M;ENSP00000415793:V4921M	ENSP00000343037:V4862M	V	+	1	0	MUC5B	1229438	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.229000	0.01208	-1.163000	0.02793	-2.078000	0.00380	GTG	MUC5B	-	NULL	ENSG00000117983		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2		0	44	0	G	XM_001126093		1272862	1			no_errors	ENST00000447027	ensembl	human	known	74_37	missense	14.29	12	2	SNP	0.000	A	A	1272862	G	A	1272862	3	1	91	1	0	0	0	0	1	0	0	0	10017	1145	40	1	14883	1	MUC5B	11	1272862	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		1272862	133733654	266	26339											
OR51G1	79324	genome.wustl.edu	37	chr11	4945468	4945468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataactgtcaggtagatgaaGcagaagggaatagagatcca	17	7	12	5	0	1	4	1	1	0	3	2	6	2	5	1	2	2	2	1	2	6	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:4945468G>A	ENST00000321961.2	-	1	169	c.102C>T	c.(100-102)tgC>tgT	p.C34C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTAGATGAAGCAGAAGGGAA	0.478																																																	0													96	78	84					11																	4945468		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"GPCR / Class A : Olfactory receptors"	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.102C>T	11.37:g.4945468G>A			B9EGW8|Q6IFH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C34	ENST00000321961.2	37	c.102	CCDS31366.1	11																																																																																			OR51G1	-	prints_GPCR_Rhodpsn	ENSG00000176879		0.478	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0	49	0	G	NM_001005237		4945468	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.550	A	A	4945468	G	A	4945468	2	1	91	1	0	0	0	0	0	0	0	1	11137	963	34	3		3	OR51G1	11	4945468	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3672606	4945468	130061048	267	26340											
OR52J3	119679	genome.wustl.edu	37	chr11	5068158	5068158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgctccactacattacGcaaccatcttgacatcccaa	11	11	4	15	1	2	1	0	1	2	0	4	1	4	1	3	0	4	2	3	0	4	3	rs143834741		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:5068158G>A	ENST00000380370.1	+	1	403	c.403G>A	c.(403-405)Gca>Aca	p.A135T		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTACATTACGCAACCATCTT	0.483																																																	0								G	THR/ALA	0,4402		0,0,2201	183	118	140		403	1.8	0.1	11	dbSNP_134	140	2,8594	2.2+/-6.3	0,2,4296	no	missense	OR52J3	NM_001001916.2	58	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign	135/312	5068158	2,12996	2201	4298	6499	SO:0001583	missense	0			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"GPCR / Class A : Olfactory receptors"	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.403G>A	11.37:g.5068158G>A	ENSP00000369728:p.Ala135Thr		Q6IFE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A135T	ENST00000380370.1	37	c.403	CCDS31370.1	11	.	.	.	.	.	.	.	.	.	.	G	0	-2.670198	0.00105	0.0	2.33E-4	ENSG00000205495	ENST00000380370	T	0.13901	2.55	4.19	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.621539	0.14166	N	0.337008	T	0.03477	0.0100	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43750	-0.9372	10	0.02654	T	1	.	4.6817	0.12738	0.6543:0.1643:0.1814:0.0	.	135	Q8NH60	O52J3_HUMAN	T	135	ENSP00000369728:A135T	ENSP00000369728:A135T	A	+	1	0	OR52J3	5024734	0.000000	0.05858	0.053000	0.19242	0.001000	0.01503	-0.981000	0.03766	0.162000	0.19483	-0.285000	0.09966	GCA	OR52J3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000205495		0.483	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52J3	HGNC	protein_coding	OTTHUMT00000142807.1	-	0	30	0	G	NM_001001916		5068158	1	tier1	-	no_errors	ENST00000380370	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.095	A	A	5068158	G	A	5068158	3	1	91	1	0	0	0	0	1	0	0	0	11161	1087	38	1	405	1	OR52J3	11	5068158	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	122690	5068158	129938358	268	26341											
NLRP14	338323	genome.wustl.edu	37	chr11	7067930	7067930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattactcactgttggcaaGatctctgttctgtgcttcat	7	16	8	10	0	4	1	2	0	2	1	5	1	4	1	0	1	2	5	0	1	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:7067930G>T	ENST00000299481.4	+	5	2336	c.1990G>T	c.(1990-1992)Gat>Tat	p.D664Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	664					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGTTGGCAAGATCTCTGTTC	0.383																																																	0													251	214	227					11																	7067930		2201	4296	6497	SO:0001583	missense	0			BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"Nucleotide-binding domain and leucine rich repeat containing"	22939	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"	609665	"NACHT, leucine rich repeat and PYD containing 14"	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1990G>T	11.37:g.7067930G>T	ENSP00000299481:p.Asp664Tyr		Q7RTR6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D664Y	ENST00000299481.4	37	c.1990	CCDS7776.1	11	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802526	0.50315	.	.	ENSG00000158077	ENST00000299481	D	0.91464	-2.85	4.52	2.26	0.28386	.	0.300651	0.24094	N	0.041617	D	0.93012	0.7776	M	0.70275	2.135	0.35232	D	0.777044	D	0.89917	1.0	D	0.67231	0.95	D	0.93163	0.6559	10	0.72032	D	0.01	.	7.9418	0.29963	0.1525:0.0:0.8475:0.0	.	664	Q86W24	NAL14_HUMAN	Y	664	ENSP00000299481:D664Y	ENSP00000299481:D664Y	D	+	1	0	NLRP14	7024506	0.999000	0.42202	0.984000	0.44739	0.854000	0.48673	1.117000	0.31234	0.435000	0.26365	0.585000	0.79938	GAT	NLRP14	-	NULL	ENSG00000158077		0.383	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP14	HGNC	protein_coding	OTTHUMT00000384551.1		0	63	0	G	NM_176822		7067930	1			no_errors	ENST00000299481	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.953	T	T	7067930	G	T	7067930	3	4	91	1	0	0	0	0	1	0	0	0	10515	942	33	3	2004	3	NLRP14	11	7067930	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1999772	7067930	127938586	269	26342											
RBMXL2	27288	genome.wustl.edu	37	chr11	7110456	7110456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaagtatggccgcatcgtCgaggtgctcctgatgaaaga	10	8	14	9	3	0	3	0	2	0	1	3	4	1	3	2	3	1	4	2	3	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:7110456C>T	ENST00000306904.5	+	1	292	c.105C>T	c.(103-105)gtC>gtT	p.V35V		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.V35V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCGCATCGTCGAGGTGCTCC	0.597																																																	1	Substitution - coding silent(1)	breast(1)											42	43	43					11																	7110456		2201	4296	6497	SO:0001819	synonymous_variant	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.105C>T	11.37:g.7110456C>T			Q6PEZ2|Q9NQU0	Silent	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.V35	ENST00000306904.5	37	c.105	CCDS7777.1	11																																																																																			RBMXL2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000170748		0.597	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	67	0	C	NM_014469		7110456	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	silent	36.84	24	14	SNP	0.007	T	T	7110456	C	T	7110456	2	4	91	1	0	0	0	0	0	0	0	1	13199	871	31	1		1	RBMXL2	11	7110456	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	42526	7110456	127896060	270	26343											
RIC3	79608	genome.wustl.edu	37	chr11	8161539	8161539	+	Frame_Shift_Del	DEL	A	A	-																															atagaatgtacagtatatatAaaaaaatcccaaaaccgtag																								rs267603218		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:8161539delA	ENST00000309737.6	-	2	325	c.326delT	c.(325-327)ttafs	p.L109fs	RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000530060.1_5'Flank|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000343202.4_Frame_Shift_Del_p.L109fs|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	109					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTATATATAAAAAAATCCC	0.353																																																	0													64	76	72					11																	8161539		2201	4296	6497	SO:0001589	frameshift_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.326delT	11.37:g.8161539delA	ENSP00000308820:p.Leu109fs		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	NULL	p.L109fs	ENST00000309737.6	37	c.326	CCDS55742.1	11																																																																																			RIC3	-	NULL	ENSG00000166405		0.353	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0	69	0	A	NM_024557		8161539	-1			no_errors	ENST00000309737	ensembl	human	known	74_37	frame_shift_del	10.34	26	3	DEL	1.000	0	-	8161539	A	-	8161539	7	5	91	1	0	1	0	1	0	0	0	0	13399	372	13	0	800	0	RIC3	11	8161539	Frame_Shift_Del	DEL	A	TCGA-L5-A8NS-01A-12D-A37C-09	1051083	8161539	126844977	271	26344											
MICAL2	9645	genome.wustl.edu	37	chr11	12278449	12278449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggccacttcttccaccggGagtgtttccgctgcagcatc	6	10	11	14	2	1	0	0	0	1	0	4	1	3	1	4	2	2	4	4	2	0	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:12278449G>A	ENST00000256194.4	+	24	3361	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	MICAL2_ENST00000342902.5_Missense_Mutation_p.E1004K|MICAL2_ENST00000527546.1_Missense_Mutation_p.E835K|MICAL2_ENST00000379612.3_Missense_Mutation_p.E799K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E835K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1025	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTTCCACCGGGAGTGTTTCCG	0.597																																																	0													117	94	102					11																	12278449		2201	4294	6495	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.3073G>A	11.37:g.12278449G>A	ENSP00000256194:p.Glu1025Lys		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E1025K	ENST00000256194.4	37	c.3073	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247638	0.80024	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.17	5.17	0.71159	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	L	0.43923	1.385	0.33554	D	0.59649	P;D;D;P;D;D	0.71674	0.793;0.998;0.961;0.772;0.98;0.991	P;D;P;P;P;D	0.80764	0.56;0.994;0.764;0.542;0.858;0.926	D	0.93575	0.6907	10	0.40728	T	0.16	.	18.2925	0.90135	0.0:0.0:1.0:0.0	.	368;1004;835;778;799;1025	B4DYS3;G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;.;MICA2_HUMAN	K	835;368;1025;835;1004;799	ENSP00000441689:E835K;ENSP00000256194:E1025K;ENSP00000433965:E835K;ENSP00000344894:E1004K;ENSP00000368932:E799K	ENSP00000256194:E1025K	E	+	1	0	MICAL2	12235025	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	7.873000	0.87193	2.407000	0.81776	0.655000	0.94253	GAG	MICAL2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000133816		0.597	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0	31	0	G	NM_014632		12278449	1			no_errors	ENST00000256194	ensembl	human	known	74_37	missense	18.18	9	2	SNP	0.999	A	A	12278449	G	A	12278449	3	1	91	1	0	0	0	0	1	0	0	0	9608	1175	41	3	3159	3	MICAL2	11	12278449	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4116910	12278449	122728067	272	26345											
MICALCL	84953	genome.wustl.edu	37	chr11	12315652	12315652	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaggaggccgtgtgctaaAaccagtccgccccctgctgc	8	7	12	14	2	0	1	0	0	0	1	1	2	1	2	5	2	4	2	5	2	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:12315652A>T	ENST00000256186.2	+	3	965	c.674A>T	c.(673-675)aAa>aTa	p.K225I		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	225					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CGTGTGCTAAAACCAGTCCGC	0.587																																																	0													44	48	47					11																	12315652		1921	4111	6032	SO:0001583	missense	0			BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.674A>T	11.37:g.12315652A>T	ENSP00000256186:p.Lys225Ile		Q7RTP7|Q96JU6	Missense_Mutation	SNP	pfam_DUF3585,smart_ProQ/FinO	p.K225I	ENST00000256186.2	37	c.674	CCDS41620.1	11	.	.	.	.	.	.	.	.	.	.	A	16.53	3.150125	0.57151	.	.	ENSG00000133808	ENST00000256186	T	0.29397	1.57	5.14	1.29	0.21616	.	0.138367	0.32719	N	0.005729	T	0.43411	0.1246	M	0.64997	1.995	0.09310	N	1	D	0.76494	0.999	D	0.67231	0.95	T	0.16660	-1.0395	10	0.48119	T	0.1	.	6.2242	0.20698	0.6129:0.0:0.3871:0.0	.	225	Q6ZW33	MICLK_HUMAN	I	225	ENSP00000256186:K225I	ENSP00000256186:K225I	K	+	2	0	MICALCL	12272228	0.436000	0.25586	0.099000	0.21106	0.076000	0.17211	1.637000	0.37155	0.210000	0.20664	0.455000	0.32223	AAA	MICALCL	-	NULL	ENSG00000133808		0.587	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALCL	HGNC	protein_coding	OTTHUMT00000386164.1	-	0	32	0	A	NM_032867		12315652	1	tier1	-	no_errors	ENST00000256186	ensembl	human	known	74_37	missense	36.84	12	7	SNP	0.014	T	T	12315652	A	T	12315652	3	4	91	1	0	0	0	0	1	0	0	0	9610	14	1	5	680	5	MICALCL	11	12315652	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	37203	12315652	122690864	273	26346											
PIK3C2A	5286	genome.wustl.edu	37	chr11	17144279	17144279	+	Frame_Shift_Del	DEL	T	T	-																															attctttccatgacatatccTtttttggtaactgttccagg																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:17144279delT	ENST00000265970.7	-	13	2480	c.2481delA	c.(2479-2481)aaafs	p.K827fs	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Frame_Shift_Del_p.K447fs	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	827	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TGACATATCCTTTTTTGGTAA	0.333																																																	0																																										SO:0001589	frameshift_variant	0			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.2481delA	11.37:g.17144279delT	ENSP00000265970:p.Lys827fs		B0LPH2|B4E2G4|Q14CQ9	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.G828fs	ENST00000265970.7	37	c.2481	CCDS7824.1	11																																																																																			PIK3C2A	-	pfam_PI3K_C2_dom,superfamily_C2_dom	ENSG00000011405		0.333	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1		0	54	0	T	NM_002645		17144279	-1	tier1		no_errors	ENST00000265970	ensembl	human	known	74_37	frame_shift_del	9.09	30	3	DEL	1.000	-	-	17144279	T	-	17144279	7	5	91	1	0	1	0	1	0	0	0	0	11948	1606	56	0	2659	0	PIK3C2A	11	17144279	Frame_Shift_Del	DEL	T	TCGA-L5-A8NS-01A-12D-A37C-09	4828627	17144279	117862237	274	26347											
PAX6	5080	genome.wustl.edu	37	chr11	31815069	31815069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagggctgtgtctgttcGgcccaacatggagccagatg	7	10	15	9	1	1	2	0	1	1	1	2	3	1	3	2	3	2	2	2	3	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:31815069G>A	ENST00000379132.3	-	10	1229	c.949C>T	c.(949-951)Cga>Tga	p.R317*	PAX6_ENST00000379111.2_Nonsense_Mutation_p.R317*|PAX6_ENST00000379129.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000241001.8_Nonsense_Mutation_p.R317*|PAX6_ENST00000379115.4_Nonsense_Mutation_p.R331*|PAX6_ENST00000419022.1_Nonsense_Mutation_p.R331*|PAX6_ENST00000379107.2_Nonsense_Mutation_p.R331*|PAX6_ENST00000379123.5_Nonsense_Mutation_p.R317*			P26367	PAX6_HUMAN	paired box 6	317	Pro/Ser/Thr-rich.			R -> L (in Ref. 1; AAA59962). {ECO:0000305}.	astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GTGTCTGTTCGGCCCAACATG	0.532									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																																								0			GRCh37	CM930573	PAX6	M							130	133	132					11																	31815069		2202	4299	6501	SO:0001587	stop_gained	0	Familial Cancer Database	WAGR syndrome	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"Paired boxes", "Homeoboxes / PRD class"	8620	protein-coding gene	gene with protein product	"aniridia, keratitis"	607108	"paired box gene 6 (aniridia, keratitis)"	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.949C>T	11.37:g.31815069G>A	ENSP00000368427:p.Arg317*		Q6N006|Q99413	Nonsense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.R331*	ENST00000379132.3	37	c.991	CCDS31451.1	11	.	.	.	.	.	.	.	.	.	.	G	39	7.560442	0.98358	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333;ENST00000530373	.	.	.	5.77	4.8	0.61643	.	0.209907	0.47093	D	0.000241	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	12.1119	0.53844	0.0:0.0:0.6686:0.3314	.	.	.	.	X	331;317;331;146;331;116;317;331;317;317;181;181;317;272;116	.	ENSP00000241001:R317X	R	-	1	2	PAX6	31771645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.321000	0.59209	2.698000	0.92095	0.643000	0.83706	CGA	PAX6	-	NULL	ENSG00000007372		0.532	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX6	HGNC	protein_coding	OTTHUMT00000099293.4		0	22	0	G	NM_001604		31815069	-1			no_errors	ENST00000379107	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	1.000	A	A	31815069	G	A	31815069	4	1	91	1	0	0	0	0	0	1	0	0	11522	1124	39	1	331	1	PAX6	11	31815069	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	14670790	31815069	103191447	275	26348											
CSTF3	1479	genome.wustl.edu	37	chr11	33129939	33129939	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaggactcaccttttcaAccttgtcataatttttagct	9	18	5	9	0	3	1	3	1	0	0	3	2	3	2	2	1	2	1	2	1	3	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:33129939A>T	ENST00000323959.4	-	4	390	c.251T>A	c.(250-252)gTt>gAt	p.V84D	CSTF3_ENST00000524827.1_Missense_Mutation_p.V116D	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	84					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CACCTTTTCAACCTTGTCATA	0.239																																																	0													17	18	18					11																	33129939		2118	4179	6297	SO:0001583	missense	0			U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.251T>A	11.37:g.33129939A>T	ENSP00000315791:p.Val84Asp		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	pfam_Suf,smart_HAT	p.V84D	ENST00000323959.4	37	c.251	CCDS7883.1	11	.	.	.	.	.	.	.	.	.	.	A	19.63	3.864231	0.71949	.	.	ENSG00000176102	ENST00000323959;ENST00000537832;ENST00000524827	T;T	0.37915	1.17;1.17	5.4	4.26	0.50523	Tetratricopeptide-like helical (1);	0.056387	0.64402	N	0.000001	T	0.61800	0.2376	M	0.89601	3.045	0.80722	D	1	D	0.59767	0.986	P	0.60541	0.876	T	0.68667	-0.5348	10	0.87932	D	0	.	11.6744	0.51422	0.8671:0.0:0.0:0.1329	.	84	Q12996	CSTF3_HUMAN	D	84;17;116	ENSP00000315791:V84D;ENSP00000431355:V116D	ENSP00000315791:V84D	V	-	2	0	CSTF3	33086515	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.012000	0.76366	0.856000	0.35383	-0.336000	0.08194	GTT	CSTF3	-	smart_HAT	ENSG00000176102		0.239	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF3	HGNC	protein_coding	OTTHUMT00000388801.1	-	0	90	0	A	NM_001326		33129939	-1	tier1	-	no_errors	ENST00000323959	ensembl	human	known	74_37	missense	27.27	40	15	SNP	1.000	T	T	33129939	A	T	33129939	3	4	91	1	0	0	0	0	1	0	0	0	3995	43	2	5	1974	5	CSTF3	11	33129939	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	1314870	33129939	101876577	276	26349											
FBXO3	26273	genome.wustl.edu	37	chr11	33777435	33777435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagtatttcagtccctgtCtctgctggaatcctccggca	7	12	9	13	1	2	0	1	0	1	0	6	2	5	1	3	2	1	3	3	2	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:33777435C>T	ENST00000265651.3	-	5	578	c.560G>A	c.(559-561)aGa>aAa	p.R187K	FBXO3_ENST00000534136.1_Missense_Mutation_p.R187K|FBXO3_ENST00000533103.1_5'Flank|FBXO3_ENST00000531080.1_5'Flank|FBXO3_ENST00000448981.2_Missense_Mutation_p.R187K|FBXO3_ENST00000526785.1_Missense_Mutation_p.R74K|FBXO3_ENST00000532057.1_5'Flank|FBXO3_ENST00000530401.1_Missense_Mutation_p.R182K	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	187					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CAGTCCCTGTCTCTGCTGGAA	0.448																																																	0													101	95	97					11																	33777435		2202	4298	6500	SO:0001583	missense	0			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"F-boxes /  "other""	13582	protein-coding gene	gene with protein product		609089	"F-box only protein 3"			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.560G>A	11.37:g.33777435C>T	ENSP00000265651:p.Arg187Lys		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom	p.R187K	ENST00000265651.3	37	c.560	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.232348	0.95207	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04	5.77	5.77	0.91146	Cell wall assembly/cell proliferation coordinating protein, KNR4-like (1);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	M	0.62723	1.935	0.58432	D	0.999999	B;B;B	0.33637	0.42;0.42;0.296	B;B;B	0.29176	0.099;0.099;0.046	T	0.26326	-1.0106	10	0.25106	T	0.35	-13.8699	19.9758	0.97304	0.0:1.0:0.0:0.0	.	182;187;187	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	K	74;187;182;187;187	ENSP00000435680:R74K;ENSP00000265651:R187K;ENSP00000433781:R182K;ENSP00000431745:R187K;ENSP00000408836:R187K	ENSP00000265651:R187K	R	-	2	0	FBXO3	33734011	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.442000	0.80503	2.723000	0.93209	0.650000	0.86243	AGA	FBXO3	-	smart_SMI1/KNR4_like_dom	ENSG00000110429		0.448	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	-	0	20	0	C	NM_012175		33777435	-1	tier1	-	no_errors	ENST00000265651	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	T	T	33777435	C	T	33777435	3	4	91	1	0	0	0	0	1	0	0	0	5761	913	32	3	892	3	FBXO3	11	33777435	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	647496	33777435	101229081	277	26350											
CHST1	8534	genome.wustl.edu	37	chr11	45671517	45671517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtccagcgggatgcccagGaacccgtagatctcctcggt	7	8	12	14	3	1	1	0	0	1	1	4	3	2	3	4	3	3	1	4	3	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:45671517G>T	ENST00000308064.2	-	4	1627	c.957C>A	c.(955-957)ttC>ttA	p.F319L	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	319					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGATGCCCAGGAACCCGTAGA	0.632																																																	0													67	66	66					11																	45671517		2203	4299	6502	SO:0001583	missense	0			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"Sulfotransferases, membrane-bound"	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.957C>A	11.37:g.45671517G>T	ENSP00000309270:p.Phe319Leu		D3DQP2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.F319L	ENST00000308064.2	37	c.957	CCDS7913.1	11	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630681	0.67015	.	.	ENSG00000175264	ENST00000308064	D	0.94723	-3.5	4.81	4.81	0.61882	Sulfotransferase domain (1);	0.110721	0.64402	D	0.000009	D	0.96595	0.8889	M	0.92367	3.3	0.53005	D	0.999963	P	0.52692	0.955	P	0.52424	0.698	D	0.96927	0.9678	10	0.66056	D	0.02	-17.7324	11.4006	0.49868	0.0833:0.0:0.9167:0.0	.	319	O43916	CHST1_HUMAN	L	319	ENSP00000309270:F319L	ENSP00000309270:F319L	F	-	3	2	CHST1	45628093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.601000	0.67606	2.200000	0.70718	0.462000	0.41574	TTC	CHST1	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000175264		0.632	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	-	0	52	0	G	NM_003654		45671517	-1	tier1	-	no_errors	ENST00000308064	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	T	T	45671517	G	T	45671517	3	4	91	1	0	0	0	0	1	0	0	0	3404	1165	41	3	282	3	CHST1	11	45671517	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	11894082	45671517	89334999	278	26351											
LRP4	4038	genome.wustl.edu	37	chr11	46884284	46884284	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattccaggatcagtgaacTtggattttttgtgtctttag	8	17	9	7	0	2	1	1	1	1	0	3	3	3	3	2	2	1	0	2	2	2	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:46884284T>G	ENST00000378623.1	-	37	5500	c.5258A>C	c.(5257-5259)aAg>aCg	p.K1753T	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1753					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATCAGTGAACTTGGATTTTTT	0.473																																																	0													229	221	224					11																	46884284		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5258A>C	11.37:g.46884284T>G	ENSP00000367888:p.Lys1753Thr		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K1753T	ENST00000378623.1	37	c.5258	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567572	0.86439	.	.	ENSG00000134569	ENST00000378623	D	0.91295	-2.82	5.64	5.64	0.86602	.	0.056531	0.64402	D	0.000001	D	0.83022	0.5164	N	0.24115	0.695	0.80722	D	1	P	0.37781	0.608	B	0.27608	0.081	D	0.85196	0.1012	10	0.72032	D	0.01	.	15.8697	0.79101	0.0:0.0:0.0:1.0	.	1753	O75096	LRP4_HUMAN	T	1753	ENSP00000367888:K1753T	ENSP00000367888:K1753T	K	-	2	0	LRP4	46840860	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.671000	0.83941	2.152000	0.67230	0.533000	0.62120	AAG	LRP4	-	NULL	ENSG00000134569		0.473	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1		0	95	0	T	NM_002334		46884284	-1			no_errors	ENST00000378623	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	G	G	46884284	T	G	46884284	3	3	91	1	0	0	0	0	1	0	0	0	8994	1609	56	4	467	4	LRP4	11	46884284	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	1212767	46884284	88122232	279	26352											
NUP160	23279	genome.wustl.edu	37	chr11	47861421	47861421	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcataaggaggtagcttaAgaacaaagattcccccagaa	16	8	9	8	0	1	3	1	0	0	3	2	4	2	4	2	2	2	2	2	2	6	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:47861421A>T	ENST00000378460.2	-	4	768	c.722T>A	c.(721-723)cTt>cAt	p.L241H	NUP160_ENST00000528071.1_Missense_Mutation_p.L127H|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000530326.1_Missense_Mutation_p.L127H|NUP160_ENST00000526870.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	241					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGGTAGCTTAAGAACAAAGAT	0.453																																																	0													167	161	163					11																	47861421		2201	4298	6499	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.722T>A	11.37:g.47861421A>T	ENSP00000367721:p.Leu241His		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.L241H	ENST00000378460.2	37	c.722	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	A	28.9	4.959999	0.92791	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.55234	0.53;0.53;0.53	5.53	5.53	0.82687	.	0.274152	0.36665	N	0.002477	T	0.63815	0.2543	L	0.46157	1.445	0.80722	D	1	D	0.56746	0.977	P	0.60609	0.877	T	0.65274	-0.6208	10	0.54805	T	0.06	.	15.6701	0.77267	1.0:0.0:0.0:0.0	.	241	Q12769	NU160_HUMAN	H	241;127;127	ENSP00000367721:L241H;ENSP00000433590:L127H;ENSP00000432367:L127H	ENSP00000367721:L241H	L	-	2	0	NUP160	47817997	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.966000	0.87956	2.108000	0.64289	0.533000	0.62120	CTT	NUP160	-	pfam_Nucleoporin_Nup160	ENSG00000030066		0.453	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	-	0	33	0	A	NM_015231		47861421	-1	tier1	-	no_errors	ENST00000378460	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	47861421	A	T	47861421	3	4	91	1	0	0	0	0	1	0	0	0	10796	72	3	5	3720	5	NUP160	11	47861421	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	977137	47861421	87145095	280	26353											
OR4A47	403253	genome.wustl.edu	37	chr11	48511187	48511187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcataaccccaatgctgaaCcccttaatctacactctgag	12	10	5	14	0	3	2	1	2	2	0	3	2	3	2	4	0	4	1	4	0	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:48511187C>T	ENST00000446524.1	+	1	919	c.843C>T	c.(841-843)aaC>aaT	p.N281N		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CAATGCTGAACCCCTTAATCT	0.403																																																	0													147	143	144					11																	48511187		2201	4295	6496	SO:0001819	synonymous_variant	0			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"GPCR / Class A : Olfactory receptors"	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.843C>T	11.37:g.48511187C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N281	ENST00000446524.1	37	c.843	CCDS31490.1	11																																																																																			OR4A47	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000237388		0.403	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	-	0	63	0	C	NM_001005512		48511187	1	tier1	-	no_errors	ENST00000446524	ensembl	human	known	74_37	silent	24.14	22	7	SNP	1.000	T	T	48511187	C	T	48511187	2	4	91	1	0	0	0	0	0	0	0	1	11081	506	18	3		3	OR4A47	11	48511187	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	649766	48511187	86495329	281	26354											
OR5I1	10798	genome.wustl.edu	37	chr11	55703203	55703203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggatctttaagactgagAgaagaatgaaaaagtaggag	18	7	13	3	1	1	5	0	2	1	3	1	8	1	7	0	2	1	1	0	2	6	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:55703203A>G	ENST00000301532.3	-	1	673	c.674T>C	c.(673-675)cTc>cCc	p.L225P		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	225					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAAGACTGAGAGAAGAATGAA	0.443																																																	0													46	47	47					11																	55703203		2201	4296	6497	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.674T>C	11.37:g.55703203A>G	ENSP00000301532:p.Leu225Pro		Q6IEU4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L225P	ENST00000301532.3	37	c.674	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	A	12.26	1.884597	0.33255	.	.	ENSG00000167825	ENST00000301532	T	0.39406	1.08	5.06	-3.69	0.04450	GPCR, rhodopsin-like superfamily (1);	0.787865	0.10766	N	0.636620	T	0.41050	0.1142	L	0.54908	1.71	0.19300	N	0.999975	P	0.46512	0.879	P	0.54210	0.745	T	0.35450	-0.9788	10	0.59425	D	0.04	.	0.4273	0.00465	0.3532:0.2516:0.1504:0.2448	.	225	Q13606	OR5I1_HUMAN	P	225	ENSP00000301532:L225P	ENSP00000301532:L225P	L	-	2	0	OR5I1	55459779	0.000000	0.05858	0.000000	0.03702	0.302000	0.27658	-1.637000	0.02015	-0.627000	0.05589	-0.353000	0.07706	CTC	OR5I1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167825		0.443	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1		0	30	0	A	NM_006637		55703203	-1			no_errors	ENST00000301532	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.000	G	G	55703203	A	G	55703203	3	3	91	1	0	0	0	0	1	0	0	0	11203	304	11	4	273	4	OR5I1	11	55703203	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7192016	55703203	79303313	282	26355											
TNKS1BP1	85456	genome.wustl.edu	37	chr11	57088071	57088071	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcaactcagccaggggAccccggggaggccgaggccc	9	1	17	14	2	1	0	1	0	0	0	1	4	1	2	5	7	2	1	5	7	2	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:57088071A>T	ENST00000532437.1	-	2	521	c.210T>A	c.(208-210)ggT>ggA	p.G70G	TNKS1BP1_ENST00000358252.3_Silent_p.G70G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	70	Arg/Glu/Lys/Pro-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGCCAGGGGACCCCGGGGAG	0.672																																																	0													17	21	19					11																	57088071		2199	4292	6491	SO:0001819	synonymous_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.210T>A	11.37:g.57088071A>T			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.G70	ENST00000532437.1	37	c.210	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.672	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1		0	107	0	A	NM_033396		57088071	-1			no_errors	ENST00000358252	ensembl	human	known	74_37	silent	7.69	47	4	SNP	0.909	T	T	57088071	A	T	57088071	2	4	91	1	0	0	0	0	0	0	0	1	16367	262	10	5		5	TNKS1BP1	11	57088071	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	1384868	57088071	77918445	283	26356											
VPS37C	55048	genome.wustl.edu	37	chr11	60899821	60899821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccctgggggactgggCgcaccgggggtggtggacgg	3	7	22	9	3	0	0	0	0	0	0	1	2	1	2	2	8	0	2	2	8	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:60899821C>T	ENST00000301765.5	-	5	771	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	180	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGGACTGGGCGCACCGGGGG	0.677																																																	0													16	19	18					11																	60899821		2195	4289	6484	SO:0001583	missense	0			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"vacuolar protein sorting 37C (yeast)"			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.539G>A	11.37:g.60899821C>T	ENSP00000301765:p.Arg180His		Q8N3K4	Missense_Mutation	SNP	pfam_Mod_r	p.R180H	ENST00000301765.5	37	c.539	CCDS31573.1	11	.	.	.	.	.	.	.	.	.	.	C	1.676	-0.507685	0.04231	.	.	ENSG00000167987	ENST00000301765;ENST00000540084	T	0.45276	0.9	4.71	2.83	0.33086	.	0.493566	0.17114	N	0.186518	T	0.24044	0.0582	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.14839	-1.0458	10	0.33940	T	0.23	-3.4008	3.8872	0.09103	0.1429:0.5487:0.2162:0.0922	.	180	A5D8V6	VP37C_HUMAN	H	180	ENSP00000301765:R180H	ENSP00000301765:R180H	R	-	2	0	VPS37C	60656397	0.044000	0.20184	0.193000	0.23327	0.045000	0.14185	0.577000	0.23758	0.418000	0.25898	0.462000	0.41574	CGC	VPS37C	-	NULL	ENSG00000167987		0.677	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37C	HGNC	protein_coding	OTTHUMT00000396467.1	-	0	28	0	C	NM_017966		60899821	-1	tier1	-	no_errors	ENST00000301765	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.026	T	T	60899821	C	T	60899821	3	4	91	1	0	0	0	0	1	0	0	0	17256	768	27	1	532	1	VPS37C	11	60899821	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3811750	60899821	74106695	284	26357											
DAGLA	747	genome.wustl.edu	37	chr11	61503792	61503792	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaactggagcaggagatGgtcctgtcccaggcctttgg	10	8	14	9	0	0	2	0	0	0	2	2	4	2	3	3	5	2	1	3	5	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:61503792G>T	ENST00000257215.5	+	13	1457	c.1341G>T	c.(1339-1341)atG>atT	p.M447I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	447					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGCAGGAGATGGTCCTGTCCC	0.582																																																	0													119	104	109					11																	61503792		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1341G>T	11.37:g.61503792G>T	ENSP00000257215:p.Met447Ile		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.M447I	ENST00000257215.5	37	c.1341	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776033	0.70107	.	.	ENSG00000134780	ENST00000257215	T	0.22945	1.93	3.71	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	N	0.08118	0	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	T	0.30297	-0.9983	10	0.37606	T	0.19	-39.3142	16.0317	0.80582	0.0:0.0:1.0:0.0	.	447	Q9Y4D2	DGLA_HUMAN	I	447	ENSP00000257215:M447I	ENSP00000257215:M447I	M	+	3	0	DAGLA	61260368	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.886000	0.92447	2.076000	0.62316	0.462000	0.41574	ATG	DAGLA	-	pfam_Lipase_3	ENSG00000134780		0.582	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1		0	44	0	G	NM_006133		61503792	1			no_errors	ENST00000257215	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	61503792	G	T	61503792	3	4	91	1	0	0	0	0	1	0	0	0	4235	1348	47	3	1387	3	DAGLA	11	61503792	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	603971	61503792	73502724	285	26358											
NRXN2	9379	genome.wustl.edu	37	chr11	64402742	64402742	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggggcccagggtccttaCgatgtgcagctgcaggtagt	6	10	16	9	1	0	0	0	0	0	0	1	1	1	0	2	4	4	5	2	4	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:64402742C>T	ENST00000377551.1	-	17	3797		c.e17+1		NRXN2_ENST00000377559.3_Splice_Site|NRXN2_ENST00000409571.1_Splice_Site|NRXN2_ENST00000301894.2_Splice_Site|NRXN2_ENST00000265459.6_Splice_Site			Q9P2S2	NRX2A_HUMAN	neurexin 2						adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGGGTCCTTACGATGTGCAGC	0.622																																																	0													46	44	45					11																	64402742		2197	4288	6485	SO:0001630	splice_region_variant	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3585+1G>A	11.37:g.64402742C>T			A7E2C1|Q9Y2D6	Splice_Site	SNP	-	e17+1	ENST00000377551.1	37	c.3585+1	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.058609	0.76074	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3528	0.74402	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NRXN2	64159318	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.728000	0.84847	2.290000	0.77057	0.561000	0.74099	.	NRXN2	-	-	ENSG00000110076		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0	40	0	C	NM_015080	Intron	64402742	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	splice_site	15.38	22	4	SNP	1.000	T	T	64402742	C	T	64402742	5	4	91	1	0	0	0	0	0	0	1	0	10705	550	19	1	1576	1	NRXN2	11	64402742	Splice_Site	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2898950	64402742	70603774	286	26359											
EHBP1L1	254102	genome.wustl.edu	37	chr11	65346828	65346828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcccacagctggcagcCgggcatccagaacccatacc	10	4	11	16	1	0	1	0	0	0	1	1	1	1	1	5	3	4	4	5	3	3	2	rs367950334		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:65346828C>T	ENST00000309295.4	+	3	444	c.179C>T	c.(178-180)cCg>cTg	p.P60L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	60						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGCTGGCAGCCGGGCATCCAG	0.582													C|||	1	0.000199681	0	0	5008	,	,		15098	0.001		0	False		,,,				2504	0																0								C	LEU/PRO	1,4069		0,1,2034	26	30	29		179	5.2	1	11		29	0,8334		0,0,4167	no	missense	EHBP1L1	NM_001099409.1	98	0,1,6201	TT,TC,CC		0.0,0.0246,0.0081	probably-damaging	60/1524	65346828	1,12403	2035	4167	6202	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.179C>T	11.37:g.65346828C>T	ENSP00000312671:p.Pro60Leu		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.P60L	ENST00000309295.4	37	c.179	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.403237	0.96051	2.46E-4	0.0	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.41758	0.99;0.99	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000005	T	0.67692	0.2920	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73335	-0.4015	10	0.87932	D	0	.	14.1742	0.65529	0.0:1.0:0.0:0.0	.	60	Q8N3D4	EH1L1_HUMAN	L	60	ENSP00000312671:P60L;ENSP00000431996:P60L	ENSP00000312671:P60L	P	+	2	0	EHBP1L1	65103404	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	6.717000	0.74707	2.435000	0.82474	0.491000	0.48974	CCG	EHBP1L1	-	NULL	ENSG00000173442		0.582	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1		0	23	0	C	XM_170658		65346828	1			no_errors	ENST00000309295	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.999	T	T	65346828	C	T	65346828	3	4	91	1	0	0	0	0	1	0	0	0	4990	652	23	1	189	1	EHBP1L1	11	65346828	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	944086	65346828	69659688	287	26360											
FCHSD2	9873	genome.wustl.edu	37	chr11	72613670	72613670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaaacagctgaagattgTagtcccggaccacctaaaga	16	6	9	10	1	0	3	0	1	0	2	1	4	1	4	3	1	2	3	3	1	6	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:72613670T>C	ENST00000409418.4	-	10	1225	c.842A>G	c.(841-843)tAc>tGc	p.Y281C	FCHSD2_ENST00000311172.7_Missense_Mutation_p.Y225C|FCHSD2_ENST00000409853.1_Missense_Mutation_p.Y225C|FCHSD2_ENST00000458644.2_Missense_Mutation_p.Y121C|FCHSD2_ENST00000409314.1_Missense_Mutation_p.Y281C	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	281										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTGAAGATTGTAGTCCCGGAC	0.348																																																	0													53	50	51					11																	72613670		2199	4285	6484	SO:0001583	missense	0			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"SH3 multiple domains 3"	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.842A>G	11.37:g.72613670T>C	ENSP00000386722:p.Tyr281Cys		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.Y281C	ENST00000409418.4	37	c.842	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	T	18.47	3.631727	0.67015	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000458644;ENST00000409853	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.84	5.84	0.93424	.	0.119691	0.64402	D	0.000015	T	0.23649	0.0572	L	0.49126	1.545	0.50313	D	0.999868	D;D;D	0.65815	0.995;0.985;0.992	P;P;P	0.53185	0.72;0.527;0.719	T	0.00453	-1.1730	10	0.41790	T	0.15	-25.1551	14.1714	0.65512	0.0:0.0:0.0:1.0	.	121;281;225	E7ENZ2;O94868;O94868-3	.;FCSD2_HUMAN;.	C	225;281;281;121;225	ENSP00000308978:Y225C;ENSP00000386987:Y281C;ENSP00000386722:Y281C;ENSP00000402972:Y121C;ENSP00000386314:Y225C	ENSP00000308978:Y225C	Y	-	2	0	FCHSD2	72291318	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.984000	0.56923	2.234000	0.73211	0.528000	0.53228	TAC	FCHSD2	-	NULL	ENSG00000137478		0.348	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	-	0	20	0	T	NM_014824		72613670	-1	tier1	-	no_errors	ENST00000409418	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	C	C	72613670	T	C	72613670	3	2	91	1	0	0	0	0	1	0	0	0	5812	1638	57	4	1424	4	FCHSD2	11	72613670	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	7266842	72613670	62392846	288	26361											
RNF169	254225	genome.wustl.edu	37	chr11	74547540	74547540	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactgcaagaccaagcactTagaacaaaatggctccctta	16	7	6	12	0	0	2	0	0	0	2	1	2	1	2	2	1	3	3	2	1	7	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:74547540T>A	ENST00000299563.4	+	6	1905	c.1892T>A	c.(1891-1893)tTa>tAa	p.L631*		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	631					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACCAAGCACTTAGAACAAAAT	0.502																																																	0													68	66	66					11																	74547540		1886	4112	5998	SO:0001587	stop_gained	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1892T>A	11.37:g.74547540T>A	ENSP00000299563:p.Leu631*		Q6N015	Nonsense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.L631*	ENST00000299563.4	37	c.1892	CCDS41691.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	35|35	5.559357|5.559357	0.96514|0.96514	.|.	.|.	ENSG00000166439|ENSG00000166439	ENST00000299563|ENST00000527301	.|.	.|.	.|.	5.83|5.83	4.67|4.67	0.58626|0.58626	.|.	0.165886|.	0.39274|.	N|.	0.001403|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-0.1144|-0.1144	10.3748|10.3748	0.44075|0.44075	0.1469:0.0:0.0:0.8531|0.1469:0.0:0.0:0.8531	.|.	.|.	.|.	.|.	X|K	631|2	.|.	ENSP00000299563:L631X|.	L|X	+|+	2|1	0|0	RNF169|RNF169	74225188|74225188	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.991000|0.991000	0.79684|0.79684	4.887000|4.887000	0.63156|0.63156	0.979000|0.979000	0.38497|0.38497	0.533000|0.533000	0.62120|0.62120	TTA|TAG	RNF169	-	NULL	ENSG00000166439		0.502	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1	-	0	26	0	T	XM_495886		74547540	1	tier1	-	no_errors	ENST00000299563	ensembl	human	known	74_37	nonsense	36.36	14	8	SNP	1.000	A	A	74547540	T	A	74547540	4	1	91	1	0	0	0	0	0	1	0	0	13505	1764	61	5	1914	5	RNF169	11	74547540	Nonsense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	1933870	74547540	60458976	289	26362											
LRRC32	2615	genome.wustl.edu	37	chr11	76372422	76372422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggtgacgaagtgctgtgTagaagcccaggggtgaggcc	9	6	17	9	1	0	3	0	2	0	1	0	4	0	3	3	4	2	2	3	4	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:76372422T>C	ENST00000407242.2	-	3	457	c.215A>G	c.(214-216)tAc>tGc	p.Y72C	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.Y72C|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.Y72C	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	72					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AAGTGCTGTGTAGAAGCCCAG	0.627																																																	0													79	71	74					11																	76372422		2200	4292	6492	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.215A>G	11.37:g.76372422T>C	ENSP00000384126:p.Tyr72Cys		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.Y72C	ENST00000407242.2	37	c.215	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	T	15.43	2.830646	0.50845	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.98	4.98	0.66077	.	0.188982	0.47455	D	0.000227	T	0.58380	0.2118	N	0.19112	0.55	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.63879	-0.6537	10	0.62326	D	0.03	.	14.8415	0.70230	0.0:0.0:0.0:1.0	.	72;72	C9JYU3;Q14392	.;LRC32_HUMAN	C	72	ENSP00000260061:Y72C;ENSP00000384126:Y72C;ENSP00000385766:Y72C;ENSP00000413331:Y72C	ENSP00000260061:Y72C	Y	-	2	0	LRRC32	76050070	1.000000	0.71417	0.972000	0.41901	0.919000	0.55068	3.590000	0.53979	2.098000	0.63641	0.459000	0.35465	TAC	LRRC32	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	ENSG00000137507		0.627	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	65	0	T	NM_005512		76372422	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.988	C	C	76372422	T	C	76372422	3	2	91	1	0	0	0	0	1	0	0	0	9022	1638	57	4	1777	4	LRRC32	11	76372422	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	1824882	76372422	58634094	290	26363											
OMP	4975	genome.wustl.edu	37	chr11	76814112	76814112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcgtgctggacaagccggGcaaggtcaccatcacaggca	10	6	13	12	2	2	0	2	0	0	0	3	1	2	1	2	4	2	3	2	4	2	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:76814112G>A	ENST00000529803.1	+	1	227	c.227G>A	c.(226-228)gGc>gAc	p.G76D	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	76					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GACAAGCCGGGCAAGGTCACC	0.617																																																	0													55	66	62					11																	76814112		2183	4271	6454	SO:0001583	missense	0			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.227G>A	11.37:g.76814112G>A	ENSP00000436376:p.Gly76Asp		Q562G2	Missense_Mutation	SNP	pfam_Olfactory_marker,superfamily_Olfactory_marker	p.G76D	ENST00000529803.1	37	c.227	CCDS53682.1	11	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335860	0.81801	.	.	ENSG00000254550	ENST00000529803	T	0.58358	0.34	5.81	5.81	0.92471	.	.	.	.	.	T	0.65471	0.2694	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67031	-0.5773	9	0.87932	D	0	.	19.0668	0.93114	0.0:0.0:1.0:0.0	.	76	P47874	OMP_HUMAN	D	76	ENSP00000436376:G76D	ENSP00000436376:G76D	G	+	2	0	OMP	76491760	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	9.405000	0.97313	2.757000	0.94681	0.462000	0.41574	GGC	OMP	-	pfam_Olfactory_marker,superfamily_Olfactory_marker	ENSG00000254550		0.617	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMP	HGNC	protein_coding	OTTHUMT00000382570.1	-	0	44	0	G	NM_006189		76814112	1	tier1	-	no_errors	ENST00000529803	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A	A	76814112	G	A	76814112	3	1	91	1	0	0	0	0	1	0	0	0	10906	1203	42	3	229	3	OMP	11	76814112	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	441690	76814112	58192404	291	26364											
EED	8726	genome.wustl.edu	37	chr11	85961397	85961397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccctgatacacctacaaaCacgccaaatgcacctggaag	14	5	7	15	2	0	1	0	1	0	0	0	2	0	2	4	1	4	1	4	1	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:85961397C>G	ENST00000263360.6	+	2	860	c.174C>G	c.(172-174)aaC>aaG	p.N58K	EED_ENST00000327320.4_Missense_Mutation_p.N58K|EED_ENST00000528180.1_Missense_Mutation_p.N58K|EED_ENST00000351625.6_Missense_Mutation_p.N58K	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	58					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CACCTACAAACACGCCAAATG	0.388																																																	0													112	99	103					11																	85961397		2203	4299	6502	SO:0001583	missense	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.174C>G	11.37:g.85961397C>G	ENSP00000263360:p.Asn58Lys		A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N58K	ENST00000263360.6	37	c.174	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867892	0.32977	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	T;T;T;T	0.79749	-0.8;-1.3;-0.73;-0.73	4.84	1.29	0.21616	.	0.049498	0.85682	D	0.000000	T	0.66489	0.2794	L	0.38175	1.15	0.80722	D	1	P;B;B;B	0.34587	0.458;0.084;0.102;0.329	B;B;B;B	0.31869	0.137;0.051;0.054;0.095	T	0.55742	-0.8093	9	.	.	.	-12.7	8.2093	0.31473	0.0:0.4061:0.0:0.5939	.	58;58;58;58	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	K	58	ENSP00000263360:N58K;ENSP00000431778:N58K;ENSP00000338186:N58K;ENSP00000315587:N58K	.	N	+	3	2	EED	85639045	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	1.962000	0.40442	0.226000	0.20979	0.585000	0.79938	AAC	EED	-	NULL	ENSG00000074266		0.388	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	HGNC	protein_coding	OTTHUMT00000393733.1	-	0	62	0	C	NM_003797		85961397	1	tier1	-	no_errors	ENST00000263360	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	G	G	85961397	C	G	85961397	3	3	91	1	0	0	0	0	1	0	0	0	4936	477	17	5	180	5	EED	11	85961397	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	9147285	85961397	49045119	292	26365											
TMEM135	65084	genome.wustl.edu	37	chr11	86782653	86782653	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattctcattgaaagaaaaAgcaggtaaaatttcatatat	18	12	5	6	0	2	2	2	1	1	1	3	2	2	2	1	1	1	2	1	1	7	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:86782653A>C	ENST00000305494.5	+	3	397	c.358A>C	c.(358-360)Agc>Cgc	p.S120R	TMEM135_ENST00000355734.4_Missense_Mutation_p.S120R|TMEM135_ENST00000340353.7_Missense_Mutation_p.S120R|TMEM135_ENST00000535167.1_5'UTR|TMEM135_ENST00000532959.1_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135	120					peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGAAAGAAAAAGCAGGTAAAA	0.358																																																	0													51	54	53					11																	86782653		2198	4299	6497	SO:0001583	missense	0			BX648678	CCDS8280.1, CCDS53692.1	11q14.2	2006-03-09			ENSG00000166575	ENSG00000166575			26167	protein-coding gene	gene with protein product						12477932	Standard	NM_022918		Approved	FLJ22104	uc001pch.3	Q86UB9	OTTHUMG00000167248	ENST00000305494.5:c.358A>C	11.37:g.86782653A>C	ENSP00000306344:p.Ser120Arg		Q6AW91|Q8ND01|Q9H6M3	Missense_Mutation	SNP	NULL	p.S120R	ENST00000305494.5	37	c.358	CCDS8280.1	11	.	.	.	.	.	.	.	.	.	.	A	24.4	4.529135	0.85706	.	.	ENSG00000166575	ENST00000340353;ENST00000525018;ENST00000355734;ENST00000305494	T;T;T;T	0.52983	0.71;0.72;2.57;0.64	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.87578	0.974;0.998;0.952	T	0.68462	-0.5402	9	.	.	.	-17.3628	14.5008	0.67719	1.0:0.0:0.0:0.0	.	120;120;120	Q86UB9-2;Q86UB9;Q8N605	.;TM135_HUMAN;.	R	120	ENSP00000345513:S120R;ENSP00000433927:S120R;ENSP00000347973:S120R;ENSP00000306344:S120R	.	S	+	1	0	TMEM135	86460301	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.369000	0.90118	2.029000	0.59856	0.533000	0.62120	AGC	TMEM135	-	NULL	ENSG00000166575		0.358	TMEM135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM135	HGNC	protein_coding	OTTHUMT00000393875.1	-	0	110	0	A	NM_022918		86782653	1	tier1	-	no_errors	ENST00000305494	ensembl	human	known	74_37	missense	14.00	43	7	SNP	1.000	C	C	86782653	A	C	86782653	3	2	91	1	0	0	0	0	1	0	0	0	16098	72	3	4	368	4	TMEM135	11	86782653	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	821256	86782653	48223863	293	26366											
TRIM49	57093	genome.wustl.edu	37	chr11	89537599	89537599	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgcacagggggcagatGagttccccctgaaagacctg	10	8	12	11	0	1	4	1	2	0	2	2	4	2	4	3	2	1	3	3	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:89537599G>C	ENST00000329758.1	-	3	367	c.39C>G	c.(37-39)ctC>ctG	p.L13L	TRIM49_ENST00000532501.2_Silent_p.L13L	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	13						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGGGGCAGATGAGTTCCCCCT	0.468																																																	0													15	16	16					11																	89537599		2169	4257	6426	SO:0001819	synonymous_variant	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.39C>G	11.37:g.89537599G>C			A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.L13	ENST00000329758.1	37	c.39	CCDS8287.1	11																																																																																			TRIM49	-	NULL	ENSG00000168930		0.468	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	-	0	173	0	G	NM_020358		89537599	-1	tier1	-	no_errors	ENST00000329758	ensembl	human	known	74_37	silent	18.64	96	22	SNP	0.004	C	C	89537599	G	C	89537599	2	2	91	1	0	0	0	0	0	0	0	1	16572	1277	45	5		5	TRIM49	11	89537599	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2754946	89537599	45468917	294	26367											
KDM4D	55693	genome.wustl.edu	37	chr11	94730972	94730972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatcagtggctccttgtttGatgaaaacactaaacaatgg	14	11	8	8	0	1	2	1	2	0	0	2	2	2	2	1	2	2	2	1	2	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:94730972G>C	ENST00000335080.5	+	3	1268	c.436G>C	c.(436-438)Gat>Cat	p.D146H	KDM4D_ENST00000536741.1_Missense_Mutation_p.D146H	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	146	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCCTTGTTTGATGAAAACAC	0.443																																																	0													92	90	91					11																	94730972		2201	4298	6499	SO:0001583	missense	0			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"Chromatin-modifying enzymes / K-demethylases"	25498	protein-coding gene	gene with protein product		609766	"jumonji domain containing 2D"	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.436G>C	11.37:g.94730972G>C	ENSP00000334181:p.Asp146His		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.D146H	ENST00000335080.5	37	c.436	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402261	0.83230	.	.	ENSG00000186280	ENST00000335080	T	0.29655	1.56	3.91	3.91	0.45181	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.64402	U	0.000002	T	0.60573	0.2279	M	0.93197	3.39	0.43156	D	0.994938	D	0.89917	1.0	D	0.70016	0.967	T	0.68712	-0.5336	10	0.87932	D	0	-26.4954	9.1856	0.37168	0.0:0.0:0.7836:0.2164	.	146	Q6B0I6	KDM4D_HUMAN	H	146	ENSP00000334181:D146H	ENSP00000334181:D146H	D	+	1	0	KDM4D	94370620	0.975000	0.34042	0.084000	0.20598	0.957000	0.61999	2.216000	0.42871	2.478000	0.83669	0.563000	0.77884	GAT	KDM4D	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000186280		0.443	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4D	HGNC	protein_coding	OTTHUMT00000396558.2		0	37	0	G	NM_018039		94730972	1			no_errors	ENST00000335080	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.932	C	C	94730972	G	C	94730972	3	2	91	1	0	0	0	0	1	0	0	0	8158	1290	45	5	438	5	KDM4D	11	94730972	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5193373	94730972	40275544	295	26368											
ATM	472	genome.wustl.edu	37	chr11	108150277	108150277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagcacttcctttgaagcTtcagcaaacagcttttgaaa	14	11	7	9	0	1	2	1	2	0	0	2	3	2	2	1	0	5	4	1	0	4	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:108150277T>C	ENST00000452508.2	+	24	3533	c.3344T>C	c.(3343-3345)cTt>cCt	p.L1115P	ATM_ENST00000278616.4_Missense_Mutation_p.L1115P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1115					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CCTTTGAAGCTTCAGCAAACA	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													96	91	93					11																	108150277		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3344T>C	11.37:g.108150277T>C	ENSP00000388058:p.Leu1115Pro		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1115P	ENST00000452508.2	37	c.3344	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420556	0.42918	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.73681	-0.77;-0.77;-0.77	5.73	4.58	0.56647	Armadillo-type fold (1);	0.478642	0.23969	N	0.042798	T	0.73583	0.3605	M	0.61703	1.905	0.43555	D	0.995862	P	0.46220	0.874	P	0.44860	0.462	T	0.71126	-0.4683	10	0.33940	T	0.23	.	12.8244	0.57710	0.0:0.0:0.1366:0.8634	.	1115	Q13315	ATM_HUMAN	P	1115	ENSP00000435747:L1115P;ENSP00000278616:L1115P;ENSP00000388058:L1115P	ENSP00000278616:L1115P	L	+	2	0	ATM	107655487	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.403000	0.59729	0.959000	0.37980	0.477000	0.44152	CTT	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1		0	22	0	T	NM_000051		108150277	1			no_errors	ENST00000278616	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C	C	108150277	T	C	108150277	3	2	91	1	0	0	0	0	1	0	0	0	1110	1609	56	4	3430	4	ATM	11	108150277	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	13419305	108150277	26856239	296	26369											
DIXDC1	85458	genome.wustl.edu	37	chr11	111853111	111853111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggcggccagggagcctgGaacctatctggagacctcat	9	7	13	12	1	2	1	1	0	1	1	2	4	2	3	4	5	2	0	4	5	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:111853111G>A	ENST00000440460.2	+	8	1112	c.815G>A	c.(814-816)gGa>gAa	p.G272E	DIXDC1_ENST00000315253.5_Missense_Mutation_p.G61E|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	273	Actin-binding.				camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGGGAGCCTGGAACCTATCTG	0.418											OREG0021331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													46	48	48					11																	111853111		1832	4085	5917	SO:0001583	missense	0			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000440460.2:c.815G>A	11.37:g.111853111G>A	ENSP00000394352:p.Gly272Glu	1438	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	Missense_Mutation	SNP	pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX	p.G272E	ENST00000440460.2	37	c.815		11	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802277	0.31869	.	.	ENSG00000150764	ENST00000440460;ENST00000315253	T;T	0.70164	-0.46;0.92	6.17	4.26	0.50523	.	0.366721	0.29707	N	0.011420	T	0.48447	0.1500	N	0.19112	0.55	0.09310	N	0.999999	B;P	0.35656	0.236;0.514	B;B	0.32533	0.147;0.142	T	0.35076	-0.9803	10	0.36615	T	0.2	-0.986	10.9357	0.47243	0.0:0.2652:0.5973:0.1375	.	61;273	E7EQ17;Q155Q3	.;DIXC1_HUMAN	E	272;61	ENSP00000394352:G272E;ENSP00000314068:G61E	ENSP00000314068:G61E	G	+	2	0	DIXDC1	111358321	0.943000	0.32029	0.010000	0.14722	0.984000	0.73092	2.414000	0.44627	0.885000	0.36088	0.655000	0.94253	GGA	DIXDC1	-	NULL	ENSG00000150764		0.418	DIXDC1-202	KNOWN	basic|appris_principal	protein_coding	DIXDC1	HGNC	protein_coding		-	0	71	0	G	NM_001037954		111853111	1	tier1	-	no_errors	ENST00000440460	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.021	A	A	111853111	G	A	111853111	3	1	91	1	0	0	0	0	1	0	0	0	4555	1175	41	3	870	3	DIXDC1	11	111853111	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3702834	111853111	23153405	297	26370											
NCAM1	4684	genome.wustl.edu	37	chr11	113102449	113102449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catccagtacactgatgccgGagagtacatctgcaccgcca	11	7	9	14	2	1	2	0	1	1	1	2	3	2	2	4	1	4	3	4	1	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:113102449G>C	ENST00000533760.1	+	9	1387	c.788G>C	c.(787-789)gGa>gCa	p.G263A	NCAM1_ENST00000401611.2_Missense_Mutation_p.G390A|NCAM1_ENST00000316851.7_Missense_Mutation_p.G381A|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	391	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACTGATGCCGGAGAGTACATC	0.597																																																	0													83	89	87					11																	113102449		2168	4276	6444	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.788G>C	11.37:g.113102449G>C	ENSP00000473281:p.Gly263Ala		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.G381A	ENST00000533760.1	37	c.1142		11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468111	0.84533	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.80738	-1.41;-1.41	4.87	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	D	0.82674	0.5088	.	.	.	0.80722	D	1	P;P;P;P	0.42161	0.656;0.772;0.704;0.51	B;B;P;B	0.44897	0.333;0.333;0.463;0.333	D	0.85347	0.1099	9	0.87932	D	0	-30.2851	18.5486	0.91055	0.0:0.0:1.0:0.0	.	391;381;391;381	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	A	263;390;381	ENSP00000384055:G390A;ENSP00000318472:G381A	ENSP00000318472:G381A	G	+	2	0	NCAM1	112607659	1.000000	0.71417	0.955000	0.39395	0.888000	0.51559	9.565000	0.98154	2.688000	0.91661	0.491000	0.48974	GGA	NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149294		0.597	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2		0	37	0	G	NM_000615		113102449	1			no_errors	ENST00000316851	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	C	C	113102449	G	C	113102449	3	2	91	1	0	0	0	0	1	0	0	0	10241	1174	41	5	1211	5	NCAM1	11	113102449	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1249338	113102449	21904067	298	26371											
DSCAML1	57453	genome.wustl.edu	37	chr11	117391983	117391983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcggatggagatggcctCgtcaggcagcaccagctccg	7	5	14	15	4	1	1	1	0	0	1	3	3	2	2	4	4	2	3	4	4	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:117391983C>T	ENST00000321322.6	-	6	1256	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.E149K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	359	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGATGGCCTCGTCAGGCAGC	0.647																																																	0													115	96	102					11																	117391983		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1255G>A	11.37:g.117391983C>T	ENSP00000315465:p.Glu419Lys		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E419K	ENST00000321322.6	37	c.1255	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123615	0.37436	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.30448	1.53;1.53	4.67	4.67	0.58626	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.23451	0.0567	L	0.31207	0.915	0.48040	D	0.999578	B;B	0.15141	0.012;0.009	B;B	0.12156	0.004;0.007	T	0.06250	-1.0837	9	0.10377	T	0.69	.	17.7518	0.88436	0.0:1.0:0.0:0.0	.	149;359	G3V1B5;Q8TD84	.;DSCL1_HUMAN	K	149;419;126	ENSP00000434335:E149K;ENSP00000315465:E419K	ENSP00000315465:E419K	E	-	1	0	DSCAML1	116897193	1.000000	0.71417	0.962000	0.40283	0.956000	0.61745	3.976000	0.56867	2.417000	0.82017	0.609000	0.83330	GAG	DSCAML1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.647	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	46	0	C	NM_020693		117391983	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.997	T	T	117391983	C	T	117391983	3	4	91	1	0	0	0	0	1	0	0	0	4783	893	31	1	5198	1	DSCAML1	11	117391983	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4289534	117391983	17614533	299	26372											
SCN2B	6327	genome.wustl.edu	37	chr11	118037675	118037675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtcttcaggtcatctgtgCtcagcttctgctcttttttt	3	19	8	11	1	7	0	3	0	4	0	7	0	7	0	0	2	3	3	0	2	0	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:118037675C>G	ENST00000278947.5	-	4	816	c.575G>C	c.(574-576)aGc>aCc	p.S192T		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	192					cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|nervous system development (GO:0007399)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|response to pyrethroid (GO:0046684)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	voltage-gated sodium channel complex (GO:0001518)	sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCATCTGTGCTCAGCTTCTG	0.607																																																	0													260	193	216					11																	118037675		2200	4296	6496	SO:0001583	missense	0			AY358945	CCDS8390.1	11q23.3	2013-09-19	2012-02-28		ENSG00000149575	ENSG00000149575		"Sodium channels", "Voltage-gated ion channels / Sodium channels", "Immunoglobulin superfamily / V-set domain containing"	10589	protein-coding gene	gene with protein product		601327	"sodium channel, voltage-gated, type II, beta polypeptide", "sodium channel, voltage-gated, type II, beta"			10198179	Standard	NM_004588		Approved		uc001psf.2	O60939	OTTHUMG00000048248	ENST00000278947.5:c.575G>C	11.37:g.118037675C>G	ENSP00000278947:p.Ser192Thr		O75302|Q9UNN3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_Myelin_P0	p.S192T	ENST00000278947.5	37	c.575	CCDS8390.1	11	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851469	0.32699	.	.	ENSG00000149575	ENST00000278947	D	0.97232	-4.3	5.04	4.11	0.48088	.	0.264228	0.42964	D	0.000631	D	0.89462	0.6722	N	0.08118	0	0.31611	N	0.65155	B	0.26672	0.156	B	0.22386	0.039	D	0.85137	0.0978	10	0.26408	T	0.33	-49.1393	6.3563	0.21402	0.0:0.7242:0.0:0.2758	.	192	O60939	SCN2B_HUMAN	T	192	ENSP00000278947:S192T	ENSP00000278947:S192T	S	-	2	0	SCN2B	117542885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.813000	0.38962	2.640000	0.89533	0.655000	0.94253	AGC	SCN2B	-	NULL	ENSG00000149575		0.607	SCN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN2B	HGNC	protein_coding	OTTHUMT00000109748.2		0	43	0	C	NM_004588		118037675	-1			no_errors	ENST00000278947	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	G	G	118037675	C	G	118037675	3	3	91	1	0	0	0	0	1	0	0	0	13962	797	28	5	76	5	SCN2B	11	118037675	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	645692	118037675	16968841	300	26373											
GRIK4	2900	genome.wustl.edu	37	chr11	120837934	120837934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggacgagtttgatctggCcattctccagctgcaggaga	8	9	13	11	2	2	2	0	1	2	1	3	5	2	3	3	3	2	3	3	3	0	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:120837934C>A	ENST00000527524.2	+	19	2584	c.2297C>A	c.(2296-2298)gCc>gAc	p.A766D	GRIK4_ENST00000438375.2_Missense_Mutation_p.A766D	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	766					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TTTGATCTGGCCATTCTCCAG	0.572																																																	0													85	76	79					11																	120837934		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2297C>A	11.37:g.120837934C>A	ENSP00000435648:p.Ala766Asp		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A766D	ENST00000527524.2	37	c.2297	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.441273	0.96187	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.16196	2.36;2.36	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69720	-0.5069	10	0.87932	D	0	.	18.7905	0.91973	0.0:1.0:0.0:0.0	.	766	Q16099	GRIK4_HUMAN	D	766	ENSP00000435648:A766D;ENSP00000404063:A766D	ENSP00000404063:A766D	A	+	2	0	GRIK4	120343144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.537000	0.85549	0.563000	0.77884	GCC	GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.572	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	49	0	C	NM_014619		120837934	1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	A	A	120837934	C	A	120837934	3	1	91	1	0	0	0	0	1	0	0	0	6803	739	26	3	2363	3	GRIK4	11	120837934	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2800259	120837934	14168582	301	26374											
KIRREL3	84623	genome.wustl.edu	37	chr11	126343242	126343242	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgatgacctctccctttcGcaaccagatgatggaggctg	9	11	10	11	1	1	4	0	3	1	1	3	5	1	5	3	2	1	2	3	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr11:126343242G>A	ENST00000525144.2	-	5	802	c.553C>T	c.(553-555)Cga>Tga	p.R185*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.R185*|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.R185*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	185	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R144*(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCTCCCTTTCGCAACCAGATG	0.652																																																	1	Substitution - Nonsense(1)	large_intestine(1)											43	47	45					11																	126343242		2018	4168	6186	SO:0001587	stop_gained	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.553C>T	11.37:g.126343242G>A	ENSP00000435466:p.Arg185*		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R185*	ENST00000525144.2	37	c.553	CCDS53723.1	11	.	.	.	.	.	.	.	.	.	.	g	25.8	4.673453	0.88445	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	.	.	.	4.86	-2.07	0.07276	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6823	0.45821	0.0724:0.0:0.3862:0.5414	.	.	.	.	X	185	.	ENSP00000435466:R185X	R	-	1	2	KIRREL3	125848452	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	1.040000	0.30278	-0.174000	0.10743	0.632000	0.83419	CGA	KIRREL3	-	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149571		0.652	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	-	0	128	0	G	NM_032531		126343242	-1	tier1	-	no_errors	ENST00000525144	ensembl	human	known	74_37	nonsense	13.75	69	11	SNP	0.930	A	A	126343242	G	A	126343242	4	1	91	1	0	0	0	0	0	1	0	0	8353	1095	38	1	1942	1	KIRREL3	11	126343242	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5505308	126343242	8663274	302	26375											
CACNA1C	775	genome.wustl.edu	37	chr12	2778165	2778165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaatgccaccctgtttGccctggtcaggacggccctg	5	11	11	14	1	2	0	2	0	0	0	2	1	2	1	4	3	2	2	4	3	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:2778165G>T	ENST00000347598.4	+	40	4834	c.4834G>T	c.(4834-4836)Gcc>Tcc	p.A1612S	CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1589S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1553S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1592S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1581S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A1564S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1553S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1584S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1586S|CACNA1C-AS2_ENST00000545526.1_RNA|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A1564S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1551S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1564S	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1612					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1586S(1)|p.A1642S(1)|p.A1612S(1)|p.A1564S(1)|p.A1099S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACCCTGTTTGCCCTGGTCAG	0.562																																																	5	Substitution - Missense(5)	lung(5)											129	133	132					12																	2778165		2187	4298	6485	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4834G>T	12.37:g.2778165G>T	ENSP00000266376:p.Ala1612Ser		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.A1564S	ENST00000347598.4	37	c.4690	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862296	0.91511	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98135	-4.42;-4.39;-4.39;-4.38;-4.39;-4.73;-4.6;-4.61;-4.39;-4.32;-4.33;-4.39;-4.73;-4.3;-4.25;-4.73;-4.72;-4.39;-4.42;-4.36;-4.43;-4.74	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.98804	0.9597	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D;P;D;D;D;D;P;D;D;D;D;D;D;D;P;D;D;D;D	0.76494	0.974;0.996;0.999;0.995;0.998;0.999;0.999;0.867;0.997;0.978;0.999;0.999;0.939;0.998;0.997;0.997;0.996;0.999;0.999;0.994;0.907;0.999;0.999;0.999;0.999	P;D;D;P;D;D;D;P;D;D;D;D;P;D;D;D;D;D;D;P;B;D;D;D;D	0.87578	0.829;0.985;0.996;0.831;0.994;0.997;0.996;0.54;0.919;0.955;0.997;0.995;0.721;0.998;0.985;0.995;0.987;0.919;0.997;0.858;0.364;0.997;0.997;0.997;0.996	D	0.99568	1.0970	10	0.72032	D	0.01	.	16.4036	0.83650	0.0:0.0:1.0:0.0	.	255;1586;1561;1612;1564;1564;1564;1581;1592;1564;1584;1564;1524;1612;1564;1564;1564;1553;1551;1553;1553;1564;1564;1564;1564	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	S	1589;1564;1564;1592;1564;1564;1564;1553;1564;1612;1584;1564;1586;1581;1564;1551;1564;1564;1564;1564;1564;1553;1394	ENSP00000336982:A1589S;ENSP00000382563:A1564S;ENSP00000382552:A1564S;ENSP00000382547:A1592S;ENSP00000382506:A1564S;ENSP00000382530:A1564S;ENSP00000382546:A1564S;ENSP00000382500:A1553S;ENSP00000382549:A1564S;ENSP00000266376:A1612S;ENSP00000382515:A1584S;ENSP00000382510:A1564S;ENSP00000341092:A1586S;ENSP00000382537:A1581S;ENSP00000329877:A1564S;ENSP00000382557:A1551S;ENSP00000385724:A1564S;ENSP00000382512:A1564S;ENSP00000382542:A1564S;ENSP00000382526:A1564S;ENSP00000385896:A1564S;ENSP00000382504:A1553S	ENSP00000323129:A1394S	A	+	1	0	CACNA1C	2648426	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.601000	0.98297	2.152000	0.67230	0.563000	0.77884	GCC	CACNA1C	-	NULL	ENSG00000151067		0.562	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1		0	39	0	G	NM_000719		2778165	1			no_errors	ENST00000399634	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	T	T	2778165	G	T	2778165	3	4	91	1	0	0	0	0	1	0	0	0	2547	1319	46	3	5166	3	CACNA1C	12	2778165	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		2778165	131073730	303	26376											
ZNF384	171017	genome.wustl.edu	37	chr12	6777029	6777029	+	Frame_Shift_Del	DEL	G	G	-																															gtccccaccacccccaccctGgggggctgccccaggagact																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:6777029delG	ENST00000396801.3	-	11	1792	c.1585delC	c.(1585-1587)cagfs	p.Q529fs	ZNF384_ENST00000396799.2_Frame_Shift_Del_p.Q468fs|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Frame_Shift_Del_p.Q529fs|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Frame_Shift_Del_p.Q413fs|ZNF384_ENST00000319770.3_Frame_Shift_Del_p.Q452fs|ZNF384_ENST00000396795.1_Frame_Shift_Del_p.Q468fs	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	529					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCCCCACCCTGGGGGGCTGCC	0.632			T	"EWSR1, TAF15 "	ALL																																			Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	0													48	53	51					12																	6777029		2203	4300	6503	SO:0001589	frameshift_variant	0			U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"Zinc fingers, C2H2-type"	11955	protein-coding gene	gene with protein product		609951	"trinucleotide repeat containing 1"	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1585delC	12.37:g.6777029delG	ENSP00000380019:p.Gln529fs		O15407|Q7Z722|Q8N938	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q529fs	ENST00000396801.3	37	c.1585	CCDS44817.1	12																																																																																			ZNF384	-	NULL	ENSG00000126746		0.632	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF384	HGNC	protein_coding	OTTHUMT00000400712.1		0	52	0	G			6777029	-1	tier1		no_errors	ENST00000361959	ensembl	human	known	74_37	frame_shift_del	13.16	33	5	DEL	1.000	-	-	6777029	G	-	6777029	7	5	91	1	0	1	0	1	0	0	0	0	17923	1357	47	0	152	0	ZNF384	12	6777029	Frame_Shift_Del	DEL	G	TCGA-L5-A8NS-01A-12D-A37C-09	3998864	6777029	127074866	304	26377											
CLEC1B	51266	genome.wustl.edu	37	chr12	10151696	10151696	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtatccatcttcatcctGcatggcttcccgagtactgc	7	13	8	13	1	2	0	1	0	1	0	5	2	5	0	3	1	3	4	3	1	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:10151696G>A	ENST00000298527.6	-	1	183	c.4C>T	c.(4-6)Cag>Tag	p.Q2*	CLEC1B_ENST00000348658.4_Nonsense_Mutation_p.Q2*|CLEC1B_ENST00000428126.2_Nonsense_Mutation_p.Q2*	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	2					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TCTTCATCCTGCATGGCTTCC	0.373																																																	0													210	201	204					12																	10151696		1900	4123	6023	SO:0001587	stop_gained	0			AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"C-type lectin domain containing"	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.4C>T	12.37:g.10151696G>A	ENSP00000298527:p.Gln2*		Q6UWX7|Q8NHR6	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.Q2*	ENST00000298527.6	37	c.4	CCDS41752.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.196674	0.98129	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	.	.	.	5.67	5.67	0.87782	.	0.131822	0.34828	N	0.003659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	15.2731	0.73720	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000298527:Q2X	Q	-	1	0	CLEC1B	10042963	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.797000	0.47877	2.677000	0.91161	0.655000	0.94253	CAG	CLEC1B	-	NULL	ENSG00000165682		0.373	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC1B	HGNC	protein_coding	OTTHUMT00000399922.1		0	38	0	G	NM_016509		10151696	-1			no_errors	ENST00000298527	ensembl	human	known	74_37	nonsense	9.52	19	2	SNP	1.000	A	A	10151696	G	A	10151696	4	1	91	1	0	0	0	0	0	1	0	0	3513	1328	46	3	709	3	CLEC1B	12	10151696	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3374667	10151696	123700199	305	26378											
KLRK1	22914	genome.wustl.edu	37	chr12	10525766	10525766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagttgaacagttttctaTatagcctttaaagctcgagg	11	14	10	6	1	1	1	0	1	1	0	2	3	1	2	1	2	3	3	1	2	6	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:10525766T>C	ENST00000240618.6	-	8	738	c.598A>G	c.(598-600)Ata>Gta	p.I200V	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.I200V|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	200	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CAGTTTTCTATATAGCCTTTA	0.373																																																	0													186	164	171					12																	10525766		2203	4300	6503	SO:0001583	missense	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.598A>G	12.37:g.10525766T>C	ENSP00000240618:p.Ile200Val		A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.I200V	ENST00000240618.6	37	c.598	CCDS8623.1	12	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.467228	0.01053	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.18174	2.23;2.23	5.59	3.12	0.35913	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.213937	0.33180	N	0.005182	T	0.09335	0.0230	N	0.17764	0.52	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.19877	-1.0292	10	0.44086	T	0.13	.	4.3389	0.11099	0.1743:0.0922:0.0:0.7335	.	200	P26718	NKG2D_HUMAN	V	200	ENSP00000240618:I200V;ENSP00000446003:I200V	ENSP00000240618:I200V	I	-	1	0	KLRK1	10417033	0.189000	0.23263	0.708000	0.30435	0.030000	0.12068	1.009000	0.29886	0.969000	0.38237	0.528000	0.53228	ATA	KLRK1	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000213809		0.373	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRK1	HGNC	protein_coding	OTTHUMT00000400269.1	-	0	34	0	T	NM_007360		10525766	-1	tier1	-	no_errors	ENST00000240618	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.257	C	C	10525766	T	C	10525766	3	2	91	1	0	0	0	0	1	0	0	0	8450	1406	49	4	56	4	KLRK1	12	10525766	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	374070	10525766	123326129	306	26379											
TAS2R7	50837	genome.wustl.edu	37	chr12	10954817	10954817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacttcatccagaggaaaAgtgggtgaaagaaattacct	15	9	9	8	0	1	3	1	1	0	2	3	4	3	4	3	2	1	0	3	2	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:10954817A>T	ENST00000240687.2	-	1	409	c.353T>A	c.(352-354)cTt>cAt	p.L118H		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	118					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CCAGAGGAAAAGTGGGTGAAA	0.418																																																	0													65	63	64					12																	10954817		2203	4300	6503	SO:0001583	missense	0			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.353T>A	12.37:g.10954817A>T	ENSP00000240687:p.Leu118His		Q645Y1	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L118H	ENST00000240687.2	37	c.353	CCDS8631.1	12	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114233	0.37339	.	.	ENSG00000121377	ENST00000240687	T	0.00922	5.54	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.651527	0.14239	N	0.332209	T	0.07052	0.0179	M	0.90425	3.115	0.26134	N	0.980378	P	0.48294	0.908	P	0.61533	0.89	T	0.03296	-1.1051	10	0.87932	D	0	.	13.5695	0.61838	1.0:0.0:0.0:0.0	.	118	Q9NYW3	TA2R7_HUMAN	H	118	ENSP00000240687:L118H	ENSP00000240687:L118H	L	-	2	0	TAS2R7	10846084	0.237000	0.23815	0.588000	0.28705	0.003000	0.03518	2.313000	0.43735	2.300000	0.77407	0.528000	0.53228	CTT	TAS2R7	-	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121377		0.418	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	-	0	39	0	A			10954817	-1	tier1	-	no_errors	ENST00000240687	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.598	T	T	10954817	A	T	10954817	3	4	91	1	0	0	0	0	1	0	0	0	15633	72	3	5	607	5	TAS2R7	12	10954817	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	429051	10954817	122897078	307	26380											
PRB3	5544	genome.wustl.edu	37	chr12	11420839	11420839	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggctttcccggacgaGgtgggggaccttgggactgg	4	10	17	10	2	1	0	0	0	1	0	2	4	2	3	2	7	0	1	2	7	0	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:11420839G>C	ENST00000279573.7	-	3	479	c.344C>G	c.(343-345)cCt>cGt	p.P115R	PRB3_ENST00000538488.1_Missense_Mutation_p.P115R|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.P115R			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	115	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TCCCGGACGAGGTGGGGGACC	0.637																																																	0													97	122	114					12																	11420839		1894	4047	5941	SO:0001583	missense	0					12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.344C>G	12.37:g.11420839G>C	ENSP00000279573:p.Pro115Arg		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	NULL	p.P115R	ENST00000279573.7	37	c.344		12	.	.	.	.	.	.	.	.	.	.	.	4.154	0.027024	0.08054	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.04234	3.67;3.67	0.52	-1.04	0.10068	.	0.593826	0.12416	U	0.470874	T	0.03095	0.0091	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.41822	-0.9487	9	0.49607	T	0.09	.	2.2823	0.04117	0.2799:0.3366:0.3835:0.0	.	115	Q04118	PRB3_HUMAN	R	115	ENSP00000371264:P115R;ENSP00000442626:P115R	ENSP00000279573:P115R	P	-	2	0	PRB3	11312106	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.137000	0.10389	-0.424000	0.07382	0.134000	0.15878	CCT	PRB3	-	NULL	ENSG00000197870		0.637	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	PRB3	HGNC	protein_coding	OTTHUMT00000402119.5	-	0	88	0	G	NM_006249		11420839	-1	tier1	-	no_errors	ENST00000381842	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.001	C	C	11420839	G	C	11420839	3	2	91	1	0	0	0	0	1	0	0	0	12486	1000	35	5	593	5	PRB3	12	11420839	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	466022	11420839	122431056	308	26381											
DERA	51071	genome.wustl.edu	37	chr12	16111249	16111249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggaagatctcttaaaagCtttaaatatgcatgataaag	16	11	8	6	1	1	2	0	1	1	1	2	3	1	3	1	1	2	2	1	1	8	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:16111249C>G	ENST00000428559.2	+	3	469	c.257C>G	c.(256-258)gCt>gGt	p.A86G	DERA_ENST00000526530.1_5'UTR|DERA_ENST00000532964.1_Missense_Mutation_p.A86G	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	86					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				CTCTTAAAAGCTTTAAATATG	0.338																																																	0													65	64	64					12																	16111249		1862	4095	5957	SO:0001583	missense	0			AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.257C>G	12.37:g.16111249C>G	ENSP00000416583:p.Ala86Gly		Q53HN9|Q6PHW2	Missense_Mutation	SNP	pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC	p.A86G	ENST00000428559.2	37	c.257	CCDS44838.1	12	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110694	0.37242	.	.	ENSG00000023697	ENST00000428559;ENST00000531803;ENST00000532964	.	.	.	5.06	5.06	0.68205	Aldolase-type TIM barrel (1);	0.427868	0.27159	N	0.020649	T	0.49423	0.1556	L	0.54323	1.7	0.80722	D	1	P	0.39352	0.669	B	0.31946	0.138	T	0.53989	-0.8360	9	0.44086	T	0.13	-9.4026	13.586	0.61931	0.1551:0.8449:0.0:0.0	.	86	Q9Y315	DEOC_HUMAN	G	86;107;86	.	ENSP00000416583:A86G	A	+	2	0	DERA	16002516	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.282000	0.33226	2.622000	0.88805	0.650000	0.86243	GCT	DERA	-	pfam_DeoC/FbaB/lacD_aldolase,pirsf_DeoC,tigrfam_DeoC	ENSG00000023697		0.338	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERA	HGNC	protein_coding	OTTHUMT00000384731.1	-	0	60	0	C	NM_015954		16111249	1	tier1	-	no_errors	ENST00000428559	ensembl	human	known	74_37	missense	28.57	35	14	SNP	0.918	G	G	16111249	C	G	16111249	3	3	91	1	0	0	0	0	1	0	0	0	4459	797	28	5	267	5	DERA	12	16111249	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4690410	16111249	117740646	309	26382											
C1QL4	338761	genome.wustl.edu	37	chr12	49726977	49726977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgttgctggcgtagtcgtAgttctggtccgcgtcctgag	3	13	15	10	4	1	1	0	1	1	0	4	1	3	1	2	2	1	6	2	2	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:49726977A>G	ENST00000334221.3	-	2	1287	c.577T>C	c.(577-579)Tac>Cac	p.Y193H		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	193	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCGTAGTCGTAGTTCTGGTCC	0.617																																																	0													143	103	116					12																	49726977		2203	4300	6503	SO:0001583	missense	0				CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.577T>C	12.37:g.49726977A>G	ENSP00000335285:p.Tyr193His			Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.Y193H	ENST00000334221.3	37	c.577	CCDS31793.1	12	.	.	.	.	.	.	.	.	.	.	A	29.2	4.985885	0.93044	.	.	ENSG00000186897	ENST00000334221	T	0.22336	1.96	5.1	5.1	0.69264	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000005	T	0.35799	0.0944	L	0.42487	1.325	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.03717	-1.1010	10	0.19590	T	0.45	.	14.007	0.64470	1.0:0.0:0.0:0.0	.	193	Q86Z23	C1QL4_HUMAN	H	193	ENSP00000335285:Y193H	ENSP00000335285:Y193H	Y	-	1	0	C1QL4	48013244	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.033000	0.93741	2.145000	0.66743	0.379000	0.24179	TAC	C1QL4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q	ENSG00000186897		0.617	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QL4	HGNC	protein_coding	OTTHUMT00000404561.1	-	0	36	0	A	NM_001008223		49726977	-1	tier1	-	no_errors	ENST00000334221	ensembl	human	known	74_37	missense	33.33	22	11	SNP	1.000	G	G	49726977	A	G	49726977	3	3	91	1	0	0	0	0	1	0	0	0	1968	420	15	4	143	4	C1QL4	12	49726977	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	33615728	49726977	84124918	310	26383											
KRT3	3850	genome.wustl.edu	37	chr12	53188100	53188100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggactttgttctgttGctccaggaaccgcacctgca	7	11	9	14	1	1	0	0	0	1	0	3	2	3	2	4	2	3	5	4	2	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:53188100G>C	ENST00000417996.2	-	2	735	c.661C>G	c.(661-663)Caa>Gaa	p.Q221E	KRT3_ENST00000309505.3_Missense_Mutation_p.Q221E	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	221	Coil 1A.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGTTCTGTTGCTCCAGGAAC	0.522																																																	0													97	108	104					12																	53188100		2199	4300	6499	SO:0001583	missense	0				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"-", "Intermediate filaments type II, keratins (basic)"	6440	protein-coding gene	gene with protein product	"keratin, type II cytoskeletal 3", "cytokeratin 3"	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.661C>G	12.37:g.53188100G>C	ENSP00000413479:p.Gln221Glu		A6NIS2|Q701L8	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.Q221E	ENST00000417996.2	37	c.661	CCDS44895.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144033	0.77888	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.74842	-0.88;-0.88	4.84	3.94	0.45596	Filament (1);	0.000000	0.44483	D	0.000456	D	0.87954	0.6308	M	0.88450	2.955	0.43564	D	0.99588	D	0.89917	1.0	D	0.85130	0.997	D	0.90797	0.4691	10	0.87932	D	0	.	15.7968	0.78416	0.0:0.1361:0.8639:0.0	.	221	P12035	K2C3_HUMAN	E	221	ENSP00000413479:Q221E;ENSP00000312206:Q221E	ENSP00000312206:Q221E	Q	-	1	0	KRT3	51474367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.580000	0.74040	1.385000	0.46445	0.655000	0.94253	CAA	KRT3	-	pfam_IF	ENSG00000186442		0.522	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	HGNC	protein_coding	OTTHUMT00000405930.1	-	0	39	0	G	NM_057088		53188100	-1	tier1	-	no_errors	ENST00000309505	ensembl	human	known	74_37	missense	40.00	18	12	SNP	1.000	C	C	53188100	G	C	53188100	3	2	91	1	0	0	0	0	1	0	0	0	8493	1328	46	5	1257	5	KRT3	12	53188100	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3461123	53188100	80663795	311	26384											
TSPAN31	6302	genome.wustl.edu	37	chr12	58139586	58139586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagggcctgggtctggtgtCcagcatccacatcatcggcg	7	8	13	13	2	2	0	1	0	1	0	5	0	4	0	3	4	1	1	3	4	1	0	rs568048822		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:58139586C>T	ENST00000257910.3	+	2	396	c.122C>T	c.(121-123)tCc>tTc	p.S41F	TSPAN31_ENST00000547992.1_Missense_Mutation_p.S41F|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	41					positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGTCTGGTGTCCAGCATCCAC	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		18716	0		0	False		,,,				2504	0																0													164	140	148					12																	58139586		2203	4300	6503	SO:0001583	missense	0				CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"Tetraspanins"	10539	protein-coding gene	gene with protein product		181035	"sarcoma amplified sequence"	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999		ENST00000257910.3:c.122C>T	12.37:g.58139586C>T	ENSP00000257910:p.Ser41Phe		O00577|Q53X76	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	p.S41F	ENST00000257910.3	37	c.122	CCDS8952.1	12	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624117	0.87560	.	.	ENSG00000135452	ENST00000257910;ENST00000547992	T	0.80393	-1.37	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.88908	0.6565	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.74348	0.918;0.983	D	0.89764	0.3949	10	0.59425	D	0.04	-0.4483	16.6554	0.85227	0.0:1.0:0.0:0.0	.	41;41	F8VS78;Q12999	.;TSN31_HUMAN	F	41	ENSP00000257910:S41F	ENSP00000257910:S41F	S	+	2	0	TSPAN31	56425853	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.312000	0.59154	2.539000	0.85634	0.460000	0.39030	TCC	TSPAN31	-	pfam_Tetraspanin/Peripherin	ENSG00000135452		0.542	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN31	HGNC	protein_coding	OTTHUMT00000408778.1		0	39	0	C			58139586	1			no_errors	ENST00000257910	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	T	T	58139586	C	T	58139586	3	4	91	1	0	0	0	0	1	0	0	0	16694	855	30	3	128	3	TSPAN31	12	58139586	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4951486	58139586	75712309	312	26385											
PPM1H	57460	genome.wustl.edu	37	chr12	63328397	63328397	+	Frame_Shift_Del	DEL	G	G	-																															aggaactctggccgcccgtaGgggaaacgcaggggcaggtc																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:63328397delG	ENST00000228705.6	-	1	420	c.120delC	c.(118-120)cccfs	p.P40fs	Y_RNA_ENST00000516851.1_RNA	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	40							phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GCCGCCCGTAGGGGAAACGCA	0.692																																																	0													7	11	9					12																	63328397		1907	4070	5977	SO:0001589	frameshift_variant	0			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	18583	protein-coding gene	gene with protein product	"neurite extension-related protein phosphatase related to PP2C"		"ras homolog gene family, member C like 1", "protein phosphatase 1H (PP2C domain containing)"	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.120delC	12.37:g.63328397delG	ENSP00000228705:p.Pro40fs		B1Q2A9|B2RXG4|Q6PI86	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.Y41fs	ENST00000228705.6	37	c.120	CCDS44934.1	12																																																																																			PPM1H	-	NULL	ENSG00000111110		0.692	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	HGNC	protein_coding	OTTHUMT00000406760.2		0	16	0	G	NM_020700		63328397	-1			no_errors	ENST00000228705	ensembl	human	known	74_37	frame_shift_del	50.00	4	4	DEL	0.999	0	-	63328397	G	-	63328397	7	5	91	1	0	1	0	1	0	0	0	0	12383	987	35	0	1464	0	PPM1H	12	63328397	Frame_Shift_Del	DEL	G	TCGA-L5-A8NS-01A-12D-A37C-09	5188811	63328397	70523498	313	26386											
XPOT	11260	genome.wustl.edu	37	chr12	64811879	64811879	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattagggagacgctcatatCatggctgcaagctcaggtaa	13	9	11	8	1	3	1	3	0	0	1	3	2	3	1	0	3	2	5	0	3	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:64811879C>G	ENST00000332707.5	+	5	783	c.254C>G	c.(253-255)tCa>tGa	p.S85*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	85	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ACGCTCATATCATGGCTGCAA	0.328																																																	0													86	86	86					12																	64811879		2203	4299	6502	SO:0001587	stop_gained	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"Exportins"	12826	protein-coding gene	gene with protein product		603180	"exportin, tRNA (nuclear export receptor for tRNAs)"			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.254C>G	12.37:g.64811879C>G	ENSP00000327821:p.Ser85*		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.S85*	ENST00000332707.5	37	c.254	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	C	40	8.083434	0.98646	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	.	.	.	5.32	5.32	0.75619	.	0.174597	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3771	0.94514	0.0:1.0:0.0:0.0	.	.	.	.	X	85	.	.	S	+	2	0	XPOT	63098146	1.000000	0.71417	0.968000	0.41197	0.863000	0.49368	4.782000	0.62396	2.645000	0.89757	0.650000	0.86243	TCA	XPOT	-	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	ENSG00000184575		0.328	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1		0	24	0	C	NM_007235		64811879	1			no_errors	ENST00000332707	ensembl	human	known	74_37	nonsense	22.22	7	2	SNP	1.000	G	G	64811879	C	G	64811879	4	3	91	1	0	0	0	0	0	1	0	0	17499	838	29	5	268	5	XPOT	12	64811879	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1483482	64811879	69040016	314	26387											
MSRB3	253827	genome.wustl.edu	37	chr12	65702437	65702437	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgtgggcttccctcaggTtgctgcttgttgtactgtac	3	15	12	11	0	1	0	1	0	0	0	2	0	2	0	2	2	4	7	2	2	2	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:65702437T>C	ENST00000355192.3	+	2	223				MSRB3_ENST00000535664.1_Splice_Site|MSRB3_ENST00000308259.5_Splice_Site|MSRB3_ENST00000538725.1_Splice_Site|MSRB3_ENST00000540804.1_Intron	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3						protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TTCCCTCAGGTTGCTGCTTGT	0.473																																																	0													123	106	112					12																	65702437		2203	4300	6503	SO:0001627	intron_variant	0			BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"deafness, autosomal recessive 74"	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.98-18169T>C	12.37:g.65702437T>C			B4DR19|B7ZAQ0|Q6UXS2	Splice_Site	SNP	-	e1+2	ENST00000355192.3	37	c.76+2	CCDS8973.1	12	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120487	0.56613	.	.	ENSG00000174099	ENST00000308259;ENST00000535664;ENST00000538045;ENST00000535239	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSRB3	63988704	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.440000	0.73435	2.307000	0.77673	0.528000	0.53228	.	MSRB3	-	-	ENSG00000174099		0.473	MSRB3-001	KNOWN	basic|CCDS	protein_coding	MSRB3	HGNC	protein_coding	OTTHUMT00000401421.1		0	30	0	T	NM_198080		65702437	1			no_errors	ENST00000308259	ensembl	human	known	74_37	splice_site	8.33	22	2	SNP	1.000	C	C	65702437	T	C	65702437	1	2	91	0	1	0	0	0	0	0	0	0	9927	1739	60	4		4	MSRB3	12	65702437	Intron	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	890558	65702437	68149458	315	26388											
CEP290	80184	genome.wustl.edu	37	chr12	88519038	88519038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatacctttgtttctttggaGctcatttttcaaatcttcaa	10	19	4	8	0	5	0	3	0	2	0	5	1	5	1	1	1	2	2	1	1	4	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:88519038G>C	ENST00000552810.1	-	13	1517	c.1174C>G	c.(1174-1176)Ctc>Gtc	p.L392V	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Missense_Mutation_p.L392V	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	392					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTCTTTGGAGCTCATTTTTC	0.239																																																	0													54	46	49					12																	88519038		1506	3345	4851	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1174C>G	12.37:g.88519038G>C	ENSP00000448012:p.Leu392Val		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.L392V	ENST00000552810.1	37	c.1174	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115547	0.56505	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.66280	-0.19;-0.2	5.43	5.43	0.79202	.	0.196194	0.35739	N	0.003011	T	0.69895	0.3162	L	0.50333	1.59	0.80722	D	1	D;D	0.63880	0.993;0.981	P;P	0.58520	0.84;0.651	T	0.64368	-0.6424	10	0.20519	T	0.43	.	17.4083	0.87479	0.0:0.0:1.0:0.0	.	392;392	Q05BJ6;O15078	.;CE290_HUMAN	V	392;392;392;294	ENSP00000448012:L392V;ENSP00000308021:L392V	ENSP00000308021:L392V	L	-	1	0	CEP290	87043169	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	3.894000	0.56250	2.531000	0.85337	0.650000	0.86243	CTC	CEP290	-	NULL	ENSG00000198707		0.239	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	80	0	G	NM_025114		88519038	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	19.05	51	12	SNP	0.992	C	C	88519038	G	C	88519038	3	2	91	1	0	0	0	0	1	0	0	0	3260	971	34	5	6433	5	CEP290	12	88519038	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	22816601	88519038	45332857	316	26389											
CCDC38	120935	genome.wustl.edu	37	chr12	96266178	96266178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccgtcatcctcagcatCtccaatgcagactttgtata	10	11	8	12	1	3	1	2	0	1	1	5	2	4	1	3	1	2	3	3	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:96266178C>T	ENST00000344280.3	-	14	1896	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	447										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTCAGCATCTCCAATGCAG	0.398																																																	0													148	146	147					12																	96266178		2203	4300	6503	SO:0001583	missense	0			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.1339G>A	12.37:g.96266178C>T	ENSP00000345470:p.Asp447Asn		Q8N835	Missense_Mutation	SNP	NULL	p.D447N	ENST00000344280.3	37	c.1339	CCDS9056.1	12	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239256	0.58995	.	.	ENSG00000165972	ENST00000344280	T	0.34859	1.34	5.53	5.53	0.82687	.	0.110878	0.64402	D	0.000009	T	0.51075	0.1653	L	0.47716	1.5	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.22452	-1.0216	10	0.22109	T	0.4	-25.6389	18.5973	0.91234	0.0:1.0:0.0:0.0	.	447	Q502W7	CCD38_HUMAN	N	447	ENSP00000345470:D447N	ENSP00000345470:D447N	D	-	1	0	CCDC38	94790309	1.000000	0.71417	0.997000	0.53966	0.313000	0.28021	4.386000	0.59620	2.765000	0.95021	0.555000	0.69702	GAT	CCDC38	-	NULL	ENSG00000165972		0.398	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC38	HGNC	protein_coding	OTTHUMT00000408634.1	-	0	65	0	C	NM_182496		96266178	-1	tier1	-	no_errors	ENST00000344280	ensembl	human	known	74_37	missense	15.38	33	6	SNP	0.999	T	T	96266178	C	T	96266178	3	4	91	1	0	0	0	0	1	0	0	0	2817	913	32	3	364	3	CCDC38	12	96266178	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	7747140	96266178	37585717	317	26390											
ALDH1L2	160428	genome.wustl.edu	37	chr12	105440749	105440749	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattggaatagtagaacccTaaagaatgagaaaagttgat	18	10	10	3	0	0	5	0	3	0	3	0	7	0	6	1	1	1	2	1	1	9	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:105440749T>G	ENST00000258494.9	-	14	1827		c.e14-2		C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2						10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AGTAGAACCCTAAAGAATGAG	0.378																																																	0													140	138	139					12																	105440749		2203	4300	6503	SO:0001630	splice_region_variant	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"Aldehyde dehydrogenases"	26777	protein-coding gene	gene with protein product	"mitochondrial 10-formyltetrahydrofolate dehydrogenase"	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.1687-2A>C	12.37:g.105440749T>G			Q3SY68|Q68D62|Q6AI55|Q8N922	Splice_Site	SNP	-	e14-2	ENST00000258494.9	37	c.1687-2	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	T	18.60	3.658573	0.67586	.	.	ENSG00000136010	ENST00000258494	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.315	0.82915	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH1L2	103964879	1.000000	0.71417	0.971000	0.41717	0.615000	0.37417	7.898000	0.87363	2.250000	0.74265	0.533000	0.62120	.	ALDH1L2	-	-	ENSG00000136010		0.378	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	-	0	92	0	T	XM_090294	Intron	105440749	-1	tier1	-	no_errors	ENST00000258494	ensembl	human	known	74_37	splice_site	44.00	14	11	SNP	1.000	G	G	105440749	T	G	105440749	5	3	91	1	0	0	0	0	0	0	1	0	495	1536	53	4	1126	4	ALDH1L2	12	105440749	Splice_Site	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	9174571	105440749	28411146	318	26391											
PWP1	11137	genome.wustl.edu	37	chr12	108102887	108102887	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaaacttatcttcctttaGgtcttgatcttagcagtcaa	10	17	5	9	0	5	1	1	1	4	0	6	1	6	1	1	1	2	1	1	1	6	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:108102887G>T	ENST00000412830.3	+	13	1336		c.e13-1		PWP1_ENST00000541166.1_Splice_Site	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)						transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TCTTCCTTTAGGTCTTGATCT	0.388																																																	0													116	109	111					12																	108102887		2203	4300	6503	SO:0001630	splice_region_variant	0			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"WD repeat domain containing"	17015	protein-coding gene	gene with protein product	"endonuclein"					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1169-1G>T	12.37:g.108102887G>T			A8K3R6|Q7Z3X9	Splice_Site	SNP	-	e13-1	ENST00000412830.3	37	c.1169-1	CCDS9114.1	12	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869653	0.33069	.	.	ENSG00000136045	ENST00000412830;ENST00000258531;ENST00000541166	.	.	.	5.67	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.7561	0.40504	0.076:0.0:0.7856:0.1385	.	.	.	.	.	-1	.	.	.	+	.	.	PWP1	106627017	1.000000	0.71417	0.186000	0.23195	0.362000	0.29581	9.471000	0.97696	0.669000	0.31146	-0.182000	0.12963	.	PWP1	-	-	ENSG00000136045		0.388	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP1	HGNC	protein_coding	OTTHUMT00000406539.1	-	0	31	0	G	NM_007062	Intron	108102887	1	tier1	-	no_errors	ENST00000412830	ensembl	human	known	74_37	splice_site	11.11	24	3	SNP	1.000	T	T	108102887	G	T	108102887	5	4	91	1	0	0	0	0	0	0	1	0	12888	1014	35	3	1218	3	PWP1	12	108102887	Splice_Site	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2662138	108102887	25749008	319	26392											
MLXIP	22877	genome.wustl.edu	37	chr12	122623385	122623385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccagcagctgctccctgCcacgggagtccccgttaccc	5	7	10	19	2	0	0	0	0	0	0	2	1	2	1	6	1	6	4	6	1	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:122623385C>T	ENST00000319080.7	+	15	2540	c.2408C>T	c.(2407-2409)gCc>gTc	p.A803V	MLXIP_ENST00000538698.1_Missense_Mutation_p.A410V					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CTGCTCCCTGCCACGGGAGTC	0.557																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													27	30	29					12																	122623385		1940	4147	6087	SO:0001583	missense	0			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"Basic helix-loop-helix proteins"	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2408C>T	12.37:g.122623385C>T	ENSP00000312834:p.Ala803Val			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A803V	ENST00000319080.7	37	c.2408		12	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019268	0.93462	.	.	ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000366272	T;T;T	0.57107	2.18;1.48;0.42	5.45	5.45	0.79879	.	0.052613	0.85682	D	0.000000	T	0.45677	0.1354	.	.	.	0.80722	D	1	B	0.29188	0.236	B	0.26416	0.069	T	0.46005	-0.9222	9	0.59425	D	0.04	-31.9927	13.5605	0.61786	0.0:0.9257:0.0:0.0742	.	803	Q9HAP2	MLXIP_HUMAN	V	803;410;274	ENSP00000312834:A803V;ENSP00000440769:A410V;ENSP00000445891:A274V	ENSP00000312834:A803V	A	+	2	0	MLXIP	121189338	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	3.124000	0.50461	2.549000	0.85964	0.655000	0.94253	GCC	MLXIP	-	NULL	ENSG00000175727		0.557	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2	-	0	30	0	C	NM_014938		122623385	1	tier1	-	no_errors	ENST00000319080	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	122623385	C	T	122623385	3	4	91	1	0	0	0	0	1	0	0	0	9674	739	26	3	2466	3	MLXIP	12	122623385	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	14520498	122623385	11228510	320	26393											
LRRC43	254050	genome.wustl.edu	37	chr12	122685870	122685870	+	Frame_Shift_Del	DEL	A	A	-																															agaagattaagaaagttgccAaaaaaggtgagtgccgatgg																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:122685870delA	ENST00000339777.4	+	11	1865	c.1837delA	c.(1837-1839)aaafs	p.K614fs	LRRC43_ENST00000425921.1_Frame_Shift_Del_p.K429fs|LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000546192.1_5'Flank|B3GNT4_ENST00000324189.4_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	614										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GAAAGTTGCCAAAAAAGGTGA	0.542																																																	0													138	145	143					12																	122685870		1907	4124	6031	SO:0001589	frameshift_variant	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1837delA	12.37:g.122685870delA	ENSP00000344233:p.Lys614fs		Q6ZVT9	Frame_Shift_Del	DEL	NULL	p.E615fs	ENST00000339777.4	37	c.1837	CCDS45001.1	12																																																																																			LRRC43	-	NULL	ENSG00000158113		0.542	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1		0	33	0	A	NM_152759		122685870	1	tier1		no_errors	ENST00000339777	ensembl	human	known	74_37	frame_shift_del	14.29	18	3	DEL	0.722	-	-	122685870	A	-	122685870	7	5	91	1	0	1	0	1	0	0	0	0	9036	131	5	0	1879	0	LRRC43	12	122685870	Frame_Shift_Del	DEL	A	TCGA-L5-A8NS-01A-12D-A37C-09	62485	122685870	11166025	321	26394											
ATP6V0A2	23545	genome.wustl.edu	37	chr12	124229215	124229215	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctcagtgtacactggcctCatctacaacgactgcttttc	8	14	6	13	1	3	0	2	0	2	0	5	1	3	0	1	1	4	2	1	1	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:124229215C>G	ENST00000330342.3	+	12	1646	c.1398C>G	c.(1396-1398)ctC>ctG	p.L466L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	466					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACACTGGCCTCATCTACAACG	0.532																																																	0													143	128	133					12																	124229215		2203	4300	6503	SO:0001819	synonymous_variant	0			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"ATPases / V-type"	18481	protein-coding gene	gene with protein product	"infantile malignant osteopetrosis"	611716	"infantile malignant osteopetrosis", "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2"			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1398C>G	12.37:g.124229215C>G			A8K026|Q6NUM0	Silent	SNP	pfam_V-ATPase_116kDa_su	p.L466	ENST00000330342.3	37	c.1398	CCDS9254.1	12																																																																																			ATP6V0A2	-	pfam_V-ATPase_116kDa_su	ENSG00000185344		0.532	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A2	HGNC	protein_coding	OTTHUMT00000400765.2		0	35	0	C	NM_012463		124229215	1			no_errors	ENST00000330342	ensembl	human	known	74_37	silent	13.33	13	2	SNP	0.999	G	G	124229215	C	G	124229215	2	3	91	1	0	0	0	0	0	0	0	1	1170	813	29	5		5	ATP6V0A2	12	124229215	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1543345	124229215	9622680	322	26395											
DNAH10	196385	genome.wustl.edu	37	chr12	124337784	124337784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatgacggttctgtataAgctggcccgggagcagctgt	10	9	14	8	2	1	2	0	1	1	1	1	3	1	3	1	3	3	5	1	3	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:124337784A>C	ENST00000409039.3	+	35	5994	c.5969A>C	c.(5968-5970)aAg>aCg	p.K1990T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1990	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GTTCTGTATAAGCTGGCCCGG	0.428																																																	0													45	45	45					12																	124337784		1904	4105	6009	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5969A>C	12.37:g.124337784A>C	ENSP00000386770:p.Lys1990Thr		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.K1990T	ENST00000409039.3	37	c.5969	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	A	19.36	3.812948	0.70912	.	.	ENSG00000197653	ENST00000409039	T	0.40225	1.04	5.7	5.7	0.88788	.	0.064020	0.64402	U	0.000011	T	0.48484	0.1502	L	0.42245	1.32	0.51012	D	0.9999	P	0.51240	0.943	P	0.53722	0.733	T	0.31138	-0.9954	10	0.23891	T	0.37	.	15.9745	0.80049	1.0:0.0:0.0:0.0	.	1990	Q8IVF4	DYH10_HUMAN	T	1990	ENSP00000386770:K1990T	ENSP00000386770:K1990T	K	+	2	0	DNAH10	122903737	1.000000	0.71417	0.971000	0.41717	0.889000	0.51656	7.516000	0.81772	2.168000	0.68352	0.533000	0.62120	AAG	DNAH10	-	superfamily_P-loop_NTPase	ENSG00000197653		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0	64	0	A			124337784	1			no_errors	ENST00000409039	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	C	C	124337784	A	C	124337784	3	2	91	1	0	0	0	0	1	0	0	0	4612	72	3	4	6107	4	DNAH10	12	124337784	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	108569	124337784	9514111	323	26396											
DNAH10	196385	genome.wustl.edu	37	chr12	124413856	124413856	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccaatgggctgaaactcaAcatgagggcaacttacttca	14	8	8	11	0	2	2	2	2	0	0	2	2	2	2	1	2	4	2	1	2	5	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:124413856A>T	ENST00000409039.3	+	70	12012	c.11987A>T	c.(11986-11988)aAc>aTc	p.N3996I	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3996	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGAAACTCAACATGAGGGCA	0.537																																																	0													35	35	35					12																	124413856		2042	4190	6232	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11987A>T	12.37:g.124413856A>T	ENSP00000386770:p.Asn3996Ile		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.N3996I	ENST00000409039.3	37	c.11987	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826390	0.90955	.	.	ENSG00000197653	ENST00000409039	T	0.15718	2.4	5.16	5.16	0.70880	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79771	-0.1663	10	0.87932	D	0	.	15.2906	0.73862	1.0:0.0:0.0:0.0	.	3996	Q8IVF4	DYH10_HUMAN	I	3996	ENSP00000386770:N3996I	ENSP00000386770:N3996I	N	+	2	0	DNAH10	122979809	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.287000	0.95975	2.079000	0.62486	0.482000	0.46254	AAC	DNAH10	-	pfam_Dynein_heavy_dom	ENSG00000197653		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	29	0	A			124413856	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	45.45	6	5	SNP	1.000	T	T	124413856	A	T	124413856	3	4	91	1	0	0	0	0	1	0	0	0	4612	43	2	5	12265	5	DNAH10	12	124413856	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	76072	124413856	9438039	324	26397											
PIWIL1	9271	genome.wustl.edu	37	chr12	130833904	130833904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttggatttcatgttcaaCttttatcatcagacagaaga	12	16	7	6	0	4	3	4	0	0	3	4	4	4	4	0	1	1	2	0	1	3	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:130833904C>T	ENST00000245255.3	+	8	1127	c.855C>T	c.(853-855)aaC>aaT	p.N285N		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	285	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCATGTTCAACTTTTATCATC	0.358																																																	0													98	90	93					12																	130833904		2203	4300	6503	SO:0001819	synonymous_variant	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.855C>T	12.37:g.130833904C>T			A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.N285	ENST00000245255.3	37	c.855	CCDS9268.1	12																																																																																			PIWIL1	-	pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom	ENSG00000125207		0.358	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	-	0	66	0	C			130833904	1	tier1	-	no_errors	ENST00000245255	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.218	T	T	130833904	C	T	130833904	2	4	91	1	0	0	0	0	0	0	0	1	11996	564	20	3		3	PIWIL1	12	130833904	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6420048	130833904	3017991	325	26398											
POLE	5426	genome.wustl.edu	37	chr12	133233814	133233814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttttgtgcagccagtcggGgtgtttgacacgtggcactg	5	14	14	8	2	0	1	0	1	0	0	1	1	0	1	1	3	2	3	1	3	0	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr12:133233814G>C	ENST00000320574.5	-	29	3533	c.3490C>G	c.(3490-3492)Ccc>Gcc	p.P1164A	POLE_ENST00000535270.1_Missense_Mutation_p.P1137A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1164					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGCCAGTCGGGGTGTTTGACA	0.527								DNA polymerases (catalytic subunits)																																									0													102	100	101					12																	133233814		2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3490C>G	12.37:g.133233814G>C	ENSP00000322570:p.Pro1164Ala		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.P1164A	ENST00000320574.5	37	c.3490	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.196819	0.94960	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.56805	-0.7918	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	1137;1164	F5H1D6;Q07864	.;DPOE1_HUMAN	A	1164;1175;1137;944;141;1099	ENSP00000322570:P1164A;ENSP00000406383:P1175A;ENSP00000445753:P1137A;ENSP00000442519:P944A	ENSP00000322570:P1164A	P	-	1	0	POLE	131743887	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.702000	0.98712	2.937000	0.99478	0.650000	0.86243	CCC	POLE	-	NULL	ENSG00000177084		0.527	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	49	0	G	NM_006231		133233814	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	C	C	133233814	G	C	133233814	3	2	91	1	0	0	0	0	1	0	0	0	12235	1232	43	5	3454	5	POLE	12	133233814	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2399910	133233814	618081	326	26399											
LATS2	26524	genome.wustl.edu	37	chr13	21562178	21562178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtctctgctgtttttgcGgacgggaacgggagaggtct	5	13	15	8	4	2	1	0	0	2	1	4	4	2	3	0	4	3	2	0	4	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:21562178G>A	ENST00000382592.4	-	4	2146	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	LATS2_ENST00000542899.1_Missense_Mutation_p.R581C|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.R581C(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTGTTTTTGCGGACGGGAACG	0.547																																																	2	Substitution - Missense(2)	endometrium(2)											240	243	242					13																	21562178		2203	4300	6503	SO:0001583	missense	0			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"LATS (large tumor suppressor, Drosophila) homolog 2", "LATS, large tumor suppressor, homolog 2 (Drosophila)"			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1741C>T	13.37:g.21562178G>A	ENSP00000372035:p.Arg581Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R581C	ENST00000382592.4	37	c.1741	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379098	0.61735	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.53640	0.61;0.61	5.12	5.12	0.69794	.	0.178002	0.39341	N	0.001386	T	0.63873	0.2548	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.65582	-0.6133	10	0.87932	D	0	.	14.5371	0.67969	0.0:0.0:0.8532:0.1468	.	581	Q9NRM7	LATS2_HUMAN	C	581	ENSP00000372035:R581C;ENSP00000441817:R581C	ENSP00000372035:R581C	R	-	1	0	LATS2	20460178	1.000000	0.71417	0.153000	0.22517	0.747000	0.42532	3.166000	0.50785	2.691000	0.91804	0.549000	0.68633	CGC	LATS2	-	NULL	ENSG00000150457		0.547	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	-	0	110	0	G			21562178	-1	tier1	-	no_errors	ENST00000382592	ensembl	human	known	74_37	missense	30.00	42	18	SNP	0.922	A	A	21562178	G	A	21562178	3	1	91	1	0	0	0	0	1	0	0	0	8675	1116	39	1	1545	1	LATS2	13	21562178	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		21562178	93607700	327	26400											
SACS	26278	genome.wustl.edu	37	chr13	23904549	23904549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcccctcacagcatagTcagctgcaatcaaagctaac	13	9	5	14	0	3	0	3	0	0	0	4	0	4	0	2	0	5	4	2	0	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:23904549T>C	ENST00000382292.3	-	9	13739	c.13466A>G	c.(13465-13467)gAc>gGc	p.D4489G	SACS_ENST00000402364.1_Missense_Mutation_p.D3739G|SACS_ENST00000382298.3_Missense_Mutation_p.D4489G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4489	HEPN. {ECO:0000255|PROSITE- ProRule:PRU00105}.				cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACAGCATAGTCAGCTGCAAT	0.403																																																	0													156	150	152					13																	23904549		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13466A>G	13.37:g.23904549T>C	ENSP00000371729:p.Asp4489Gly		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.D4489G	ENST00000382292.3	37	c.13466	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950773	0.73787	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.85411	-1.98;-1.98;-1.98	5.85	5.85	0.93711	HEPN (3);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.87022	0.2129	10	0.41790	T	0.15	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	4489	Q9NZJ4	SACS_HUMAN	G	4489;3739;4489	ENSP00000371729:D4489G;ENSP00000385844:D3739G;ENSP00000371735:D4489G	ENSP00000371729:D4489G	D	-	2	0	SACS	22802549	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	8.040000	0.89188	2.234000	0.73211	0.460000	0.39030	GAC	SACS	-	pfam_HEPN,smart_HEPN,pfscan_HEPN	ENSG00000151835		0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	43	0	T	NM_014363		23904549	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	37.50	9	6	SNP	1.000	C	C	23904549	T	C	23904549	3	2	91	1	0	0	0	0	1	0	0	0	13849	1667	58	4	277	4	SACS	13	23904549	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	2342371	23904549	91265329	328	26401											
RNF17	56163	genome.wustl.edu	37	chr13	25453387	25453387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatccagttcatatgccGttggtagaaatggggcttgc	9	11	12	9	1	1	1	1	0	0	1	2	1	2	1	2	3	3	5	2	3	3	5	rs576396754		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:25453387G>A	ENST00000255324.5	+	35	4888	c.4836G>A	c.(4834-4836)ccG>ccA	p.P1612P	RNF17_ENST00000381921.1_Silent_p.P1570P|RNF17_ENST00000339524.3_Silent_p.P622P	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1612					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTCATATGCCGTTGGTAGAAA	0.393													A|||	1	0.000199681	0	0	5008	,	,		21934	0		0	False		,,,				2504	0.001																0													107	90	96					13																	25453387		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4836G>A	13.37:g.25453387G>A			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.P1612	ENST00000255324.5	37	c.4836	CCDS9308.2	13																																																																																			RNF17	-	NULL	ENSG00000132972		0.393	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	34	0	G	NM_031994		25453387	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.004	A	A	25453387	G	A	25453387	2	1	91	1	0	0	0	0	0	0	0	1	13506	1132	40	1		1	RNF17	13	25453387	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1548838	25453387	89716491	329	26402											
FRY	10129	genome.wustl.edu	37	chr13	32798406	32798406	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctacacgggctggttgctGactattacagagaccaagca	11	8	10	12	1	0	2	0	1	0	1	0	3	0	2	2	2	4	4	2	2	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:32798406G>C	ENST00000380250.3	+	37	5296	c.4800G>C	c.(4798-4800)ctG>ctC	p.L1600L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1600						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTGGTTGCTGACTATTACAG	0.522																																																	0													70	71	71					13																	32798406		1875	4104	5979	SO:0001819	synonymous_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4800G>C	13.37:g.32798406G>C			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.L1600	ENST00000380250.3	37	c.4800	CCDS41875.1	13																																																																																			FRY	-	NULL	ENSG00000073910		0.522	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1		0	39	0	G	NM_023037		32798406	1			no_errors	ENST00000380250	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.998	C	C	32798406	G	C	32798406	2	2	91	1	0	0	0	0	0	0	0	1	6087	1277	45	5		5	FRY	13	32798406	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7345019	32798406	82371472	330	26403											
BRCA2	675	genome.wustl.edu	37	chr13	32906424	32906424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaggatttggaaaaacatCagggaattcatttaaagtaa	19	10	8	4	0	2	0	2	0	0	0	2	3	2	3	0	3	2	1	0	3	7	5	rs276174902		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:32906424C>T	ENST00000380152.3	+	10	1042	c.809C>T	c.(808-810)tCa>tTa	p.S270L	BRCA2_ENST00000544455.1_Missense_Mutation_p.S270L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	270					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGAAAAACATCAGGGAATTCA	0.303			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													43	44	44					13																	32906424		2198	4291	6489	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.809C>T	13.37:g.32906424C>T	ENSP00000369497:p.Ser270Leu		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.S270L	ENST00000380152.3	37	c.809	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.279479	0.00254	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00634	6.07;6.07	5.02	0.972	0.19704	.	0.927321	0.08869	N	0.881784	T	0.00241	0.0007	N	0.00446	-1.495	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42430	-0.9452	10	0.02654	T	1	.	3.4388	0.07456	0.166:0.1895:0.0:0.6445	.	270;270	P51587;A1YBP1	BRCA2_HUMAN;.	L	270;270;268	ENSP00000369497:S270L;ENSP00000439902:S270L	ENSP00000369497:S270L	S	+	2	0	BRCA2	31804424	0.828000	0.29307	0.000000	0.03702	0.260000	0.26232	2.044000	0.41241	-0.071000	0.12886	-0.294000	0.09567	TCA	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	41	0	C	NM_000059		32906424	1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.000	T	T	32906424	C	T	32906424	3	4	91	1	0	0	0	0	1	0	0	0	1503	838	29	3	843	3	BRCA2	13	32906424	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	108018	32906424	82263454	331	26404											
DCLK1	9201	genome.wustl.edu	37	chr13	36410265	36410265	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagctggaatctggaagccTtcctccgacacttctgaaag	10	10	10	11	1	2	1	0	1	2	0	4	4	4	3	3	2	2	2	3	2	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:36410265T>G	ENST00000360631.3	-	8	1345	c.1134A>C	c.(1132-1134)gaA>gaC	p.E378D	DCLK1_ENST00000379893.1_Missense_Mutation_p.E71D|DCLK1_ENST00000255448.4_Missense_Mutation_p.E378D			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	378					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTGGAAGCCTTCCTCCGACA	0.358																																																	0													209	198	202					13																	36410265		2203	4300	6503	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1134A>C	13.37:g.36410265T>G	ENSP00000353846:p.Glu378Asp		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.E378D	ENST00000360631.3	37	c.1134		13	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562159	0.27915	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.68331	-0.3;-0.29;-0.32	6.04	4.87	0.63330	.	1.637160	0.03125	N	0.164404	T	0.58977	0.2160	L	0.27053	0.805	0.80722	D	1	B;B;B	0.13145	0.002;0.007;0.002	B;B;B	0.12837	0.005;0.008;0.007	T	0.08186	-1.0734	10	0.30078	T	0.28	.	10.9611	0.47385	0.0:0.0765:0.0:0.9235	.	71;378;71	O15075-4;O15075-2;O15075-3	.;.;.	D	70;378;378;71;378	ENSP00000255448:E378D;ENSP00000353846:E378D;ENSP00000369223:E71D	ENSP00000255448:E378D	E	-	3	2	DCLK1	35308265	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.947000	0.40293	1.098000	0.41479	0.460000	0.39030	GAA	DCLK1	-	superfamily_Kinase-like_dom	ENSG00000133083		0.358	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	-	0	52	0	T	NM_004734		36410265	-1	tier1	-	no_errors	ENST00000360631	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	G	G	36410265	T	G	36410265	3	3	91	1	0	0	0	0	1	0	0	0	4300	1606	56	4	1099	4	DCLK1	13	36410265	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	3503841	36410265	78759613	332	26405											
KPNA3	3839	genome.wustl.edu	37	chr13	50280504	50280504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttggaaaggaaccacactGcttcctataattgaacaaaa	16	10	7	8	0	0	1	0	1	0	0	1	3	1	3	2	2	3	2	2	2	7	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:50280504G>A	ENST00000261667.3	-	13	1451	c.1037C>T	c.(1036-1038)gCa>gTa	p.A346V		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	346	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		GAACCACACTGCTTCCTATAA	0.323																																																	0													88	77	81					13																	50280504		2203	4300	6503	SO:0001583	missense	0			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"Importins", "Armadillo repeat containing"	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1037C>T	13.37:g.50280504G>A	ENSP00000261667:p.Ala346Val		O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.A346V	ENST00000261667.3	37	c.1037	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.450564	0.96205	.	.	ENSG00000102753	ENST00000261667	D	0.83506	-1.73	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92499	0.7618	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92725	0.6195	10	0.87932	D	0	-15.2119	20.3011	0.98612	0.0:0.0:1.0:0.0	.	346	O00505	IMA3_HUMAN	V	346	ENSP00000261667:A346V	ENSP00000261667:A346V	A	-	2	0	KPNA3	49178505	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.804000	0.96469	0.650000	0.86243	GCA	KPNA3	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000102753		0.323	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2		0	51	0	G	NM_002267		50280504	-1			no_errors	ENST00000261667	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A	A	50280504	G	A	50280504	3	1	91	1	0	0	0	0	1	0	0	0	8458	1319	46	3	548	3	KPNA3	13	50280504	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	13870239	50280504	64889374	333	26406											
PCDH20	64881	genome.wustl.edu	37	chr13	61987310	61987310	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatgtcactgatgccaaTggtgagagtggcactgccca	11	10	11	9	0	1	2	1	2	0	1	1	3	1	2	2	2	2	1	2	2	2	1	rs370995261		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:61987310T>A	ENST00000409186.1	-	5	3027	c.922A>T	c.(922-924)Att>Ttt	p.I308F	PCDH20_ENST00000409204.4_Missense_Mutation_p.I308F			Q8N6Y1	PCD20_HUMAN	protocadherin 20	308	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGATGCCAATGGTGAGAGTG	0.502																																																	0								T	PHE/ILE	0,4406		0,0,2203	83	78	80		922	5.8	1	13		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCDH20	NM_022843.3	21	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	probably-damaging	308/952	61987310	1,13005	2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.922A>T	13.37:g.61987310T>A	ENSP00000386653:p.Ile308Phe		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I308F	ENST00000409186.1	37	c.922	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607138	0.66558	0.0	1.16E-4	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.74209	-0.82;-0.82	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000004	D	0.88804	0.6536	M	0.91663	3.23	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.91276	0.5048	10	0.87932	D	0	.	16.0796	0.80995	0.0:0.0:0.0:1.0	.	308	A8K1K9	.	F	308;308;54	ENSP00000387250:I308F;ENSP00000386653:I308F	ENSP00000351500:I54F	I	-	1	0	PCDH20	60885311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.124000	0.64709	2.206000	0.71126	0.533000	0.62120	ATT	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197991		0.502	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2		0	15	0	T	NM_022843		61987310	-1			no_errors	ENST00000409186	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	A	A	61987310	T	A	61987310	3	1	91	1	0	0	0	0	1	0	0	0	11554	1464	51	5	1937	5	PCDH20	13	61987310	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	11706806	61987310	53182568	334	26407											
PCDH20	64881	genome.wustl.edu	37	chr13	61987586	61987586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcattttccgggacccacaCcgagatctgggaaacaggga	11	7	12	11	2	1	1	0	0	1	1	2	5	2	4	3	3	2	1	3	3	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:61987586C>T	ENST00000409186.1	-	5	2751	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	PCDH20_ENST00000409204.4_Missense_Mutation_p.V216M			Q8N6Y1	PCD20_HUMAN	protocadherin 20	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGACCCACACCGAGATCTGG	0.527																																																	0													110	98	102					13																	61987586		2203	4300	6503	SO:0001583	missense	0			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"Cadherins / Protocadherins : Non-clustered"	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.646G>A	13.37:g.61987586C>T	ENSP00000386653:p.Val216Met		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V216M	ENST00000409186.1	37	c.646	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	c	18.74	3.687533	0.68157	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.54479	0.57;0.57	5.76	3.93	0.45458	.	0.255736	0.27558	N	0.018839	T	0.43211	0.1237	L	0.47016	1.485	0.09310	N	1	B	0.23128	0.08	B	0.25614	0.062	T	0.43507	-0.9387	10	0.72032	D	0.01	.	6.4657	0.21980	0.0:0.5816:0.2497:0.1687	.	216	A8K1K9	.	M	216	ENSP00000387250:V216M;ENSP00000386653:V216M	ENSP00000386653:V216M	V	-	1	0	PCDH20	60885587	0.959000	0.32827	0.012000	0.15200	0.963000	0.63663	1.901000	0.39838	1.441000	0.47550	0.651000	0.88453	GTG	PCDH20	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000197991		0.527	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2		0	18	0	C	NM_022843		61987586	-1			no_errors	ENST00000409186	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.108	T	T	61987586	C	T	61987586	3	4	91	1	0	0	0	0	1	0	0	0	11554	507	18	3	2213	3	PCDH20	13	61987586	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	276	61987586	53182292	335	26408											
PCDH9	5101	genome.wustl.edu	37	chr13	67801399	67801399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgccattcacatctgtgtCcttatctgaaactgtaatta	10	17	5	9	0	3	1	1	1	2	0	4	1	4	1	2	0	2	1	2	0	4	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:67801399C>T	ENST00000377865.2	-	1	1308	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	PCDH9_ENST00000544246.1_Missense_Mutation_p.D392N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D392N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D392N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D392N			Q9HC56	PCDH9_HUMAN	protocadherin 9	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACATCTGTGTCCTTATCTGAA	0.383																																																	0													119	115	116					13																	67801399		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"Cadherins / Protocadherins : Non-clustered"	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1174G>A	13.37:g.67801399C>T	ENSP00000367096:p.Asp392Asn		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D392N	ENST00000377865.2	37	c.1174	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691303	0.68271	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92351	0.7573	H	0.98111	4.15	0.80722	D	1	D;D;D;D	0.89917	0.972;1.0;1.0;1.0	P;D;D;D	0.97110	0.895;1.0;0.999;1.0	D	0.94000	0.7274	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	392;392;392;392	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	N	392	ENSP00000442186:D392N;ENSP00000367096:D392N;ENSP00000401699:D392N;ENSP00000332060:D392N;ENSP00000367092:D392N	ENSP00000332060:D392N	D	-	1	0	PCDH9	66699400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAC	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000184226		0.383	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1		0	33	0	C	NM_203487		67801399	-1			no_errors	ENST00000377865	ensembl	human	known	74_37	missense	13.33	13	2	SNP	1.000	T	T	67801399	C	T	67801399	3	4	91	1	0	0	0	0	1	0	0	0	11557	855	30	3	2555	3	PCDH9	13	67801399	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	5813813	67801399	47368479	336	26409											
RBM26	64062	genome.wustl.edu	37	chr13	79940817	79940817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacctggcggtggtactggGggcctgagattcacaggtgg	6	8	19	8	1	1	1	1	1	0	1	1	3	1	2	2	8	1	1	2	8	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:79940817G>A	ENST00000438737.2	-	7	1526	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Silent_p.P362P|RBM26_ENST00000438724.1_Silent_p.P362P			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	362	Pro-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTGGTACTGGGGGCCTGAGAT	0.527																																																	0													40	45	43					13																	79940817		2203	4300	6503	SO:0001819	synonymous_variant	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"Zinc fingers, CCCH-type domain containing", "RNA binding motif (RRM) containing"	20327	protein-coding gene	gene with protein product	"acidic rich RS domain containing 2", "protein phosphatase 1, regulatory 132"		"chromosome 13 open reading frame 10"	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1086C>T	13.37:g.79940817G>A			B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.P362	ENST00000438737.2	37	c.1086		13																																																																																			RBM26	-	NULL	ENSG00000139746		0.527	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	-	0	71	0	G	NM_022118		79940817	-1	tier1	-	no_errors	ENST00000438724	ensembl	human	known	74_37	silent	20.59	26	7	SNP	0.988	A	A	79940817	G	A	79940817	2	1	91	1	0	0	0	0	0	0	0	1	13171	1219	43	3		3	RBM26	13	79940817	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	12139418	79940817	35229061	337	26410											
FARP1	10160	genome.wustl.edu	37	chr13	99092956	99092956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagccaccgcggctgaccagGagtcagaggatgacctgagc	11	4	14	12	2	1	4	1	3	0	1	1	6	1	6	4	3	2	1	4	3	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:99092956G>A	ENST00000319562.6	+	24	2927	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	FARP1_ENST00000595437.1_Missense_Mutation_p.E919K|FARP1_ENST00000376586.2_Missense_Mutation_p.E919K	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	888					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGCTGACCAGGAGTCAGAGGA	0.627																																																	0													45	45	45					13																	99092956		2203	4300	6503	SO:0001583	missense	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2662G>A	13.37:g.99092956G>A	ENSP00000322926:p.Glu888Lys		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.E919K	ENST00000319562.6	37	c.2755	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731256	0.89390	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.12255	2.7;2.7	5.53	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	M	0.75777	2.31	0.80722	D	1	D;D	0.71674	0.965;0.998	P;D	0.75484	0.629;0.986	T	0.12400	-1.0549	10	0.44086	T	0.13	.	14.4339	0.67268	0.0705:0.0:0.9295:0.0	.	888;919	Q9Y4F1;C9JME2	FARP1_HUMAN;.	K	919;888	ENSP00000365771:E919K;ENSP00000322926:E888K	ENSP00000322926:E888K	E	+	1	0	FARP1	97890957	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.470000	0.97683	1.350000	0.45770	0.655000	0.94253	GAG	FARP1	-	NULL	ENSG00000152767		0.627	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	30	0	G	NM_005766		99092956	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	A	A	99092956	G	A	99092956	3	1	91	1	0	0	0	0	1	0	0	0	5698	1175	41	3	2975	3	FARP1	13	99092956	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	19152139	99092956	16076922	338	26411											
TM9SF2	9375	genome.wustl.edu	37	chr13	100190111	100190111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgctaaacttgaacCgaaaaggtaattatattaat	16	12	8	5	1	0	1	0	1	0	0	0	2	0	1	1	2	3	3	1	2	9	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:100190111C>T	ENST00000376387.4	+	6	900	c.710C>T	c.(709-711)cCg>cTg	p.P237L	RNY3P6_ENST00000390895.1_RNA|TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	237					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAACTTGAACCGAAAAGGTAA	0.318																																																	0													47	47	47					13																	100190111		2203	4300	6503	SO:0001583	missense	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.710C>T	13.37:g.100190111C>T	ENSP00000365567:p.Pro237Leu		A8K399|Q2TAY5	Missense_Mutation	SNP	pfam_EMP70	p.P237L	ENST00000376387.4	37	c.710	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998539	0.93227	.	.	ENSG00000125304	ENST00000376387	T	0.46451	0.87	5.43	5.43	0.79202	.	0.048458	0.85682	D	0.000000	T	0.70727	0.3257	H	0.95260	3.645	0.80722	D	1	P	0.43024	0.798	P	0.51516	0.672	T	0.79315	-0.1854	10	0.72032	D	0.01	-15.0609	19.6655	0.95891	0.0:1.0:0.0:0.0	.	237	Q99805	TM9S2_HUMAN	L	237	ENSP00000365567:P237L	ENSP00000365567:P237L	P	+	2	0	TM9SF2	98988112	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.677000	0.84024	2.713000	0.92767	0.456000	0.33151	CCG	TM9SF2	-	pfam_EMP70	ENSG00000125304		0.318	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3	-	0	46	0	C			100190111	1	tier1	-	no_errors	ENST00000376387	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	T	T	100190111	C	T	100190111	3	4	91	1	0	0	0	0	1	0	0	0	16025	652	23	1	732	1	TM9SF2	13	100190111	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1097155	100190111	14979767	339	26412											
FGF14	2259	genome.wustl.edu	37	chr13	102379085	102379085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagattcctgttgtctgtAcaacatggatgagtagatta	12	13	9	7	0	1	3	0	1	1	2	2	4	2	4	2	1	2	3	2	1	4	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr13:102379085A>T	ENST00000376143.4	-	4	483	c.484T>A	c.(484-486)Tac>Aac	p.Y162N	FGF14_ENST00000376131.4_Missense_Mutation_p.Y167N	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	162					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTGTCTGTACAACATGGAT	0.368																																																	0													102	95	97					13																	102379085		2203	4300	6503	SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.484T>A	13.37:g.102379085A>T	ENSP00000365313:p.Tyr162Asn		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Y167N	ENST00000376143.4	37	c.499	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	A	23.7	4.441687	0.83993	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	T;T	0.69926	-0.44;-0.44	5.65	5.65	0.86999	.	0.300687	0.38111	N	0.001809	D	0.82683	0.5090	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85310	0.1078	10	0.87932	D	0	.	15.8767	0.79170	1.0:0.0:0.0:0.0	.	167;162	Q92915-2;Q92915	.;FGF14_HUMAN	N	167;162	ENSP00000365301:Y167N;ENSP00000365313:Y162N	ENSP00000365301:Y167N	Y	-	1	0	FGF14	101177086	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.162000	0.67917	0.482000	0.46254	TAC	FGF14	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000102466		0.368	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0	45	0	A			102379085	-1	tier1	-	no_errors	ENST00000376131	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	T	T	102379085	A	T	102379085	3	4	91	1	0	0	0	0	1	0	0	0	5865	391	14	5	267	5	FGF14	13	102379085	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2188974	102379085	12790793	340	26413											
ZNF219	51222	genome.wustl.edu	37	chr14	21558826	21558826	+	Frame_Shift_Del	DEL	G	G	-																															gggcggggacgcgtcagcctGgggtggccggcggcccctag																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:21558826delG	ENST00000360947.3	-	5	2449	c.2038delC	c.(2038-2040)cagfs	p.Q680fs	ZNF219_ENST00000421093.2_Frame_Shift_Del_p.Q680fs|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000451119.2_Frame_Shift_Del_p.Q680fs|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	680					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCGTCAGCCTGGGGTGGCCGG	0.701																																																	0													15	19	18					14																	21558826		2195	4290	6485	SO:0001589	frameshift_variant	0			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"Zinc fingers, C2H2-type"	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.2038delC	14.37:g.21558826delG	ENSP00000354206:p.Gln680fs		D3DS16|Q53Y57|Q8IYC1|Q9BW28	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt	p.Q680fs	ENST00000360947.3	37	c.2038	CCDS9568.1	14																																																																																			ZNF219	-	NULL	ENSG00000165804		0.701	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2		0	25	0	G			21558826	-1	tier1		no_errors	ENST00000360947	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.999	-	-	21558826	G	-	21558826	7	5	91	1	0	1	0	1	0	0	0	0	17821	1357	47	0	134	0	ZNF219	14	21558826	Frame_Shift_Del	DEL	G	TCGA-L5-A8NS-01A-12D-A37C-09		21558826	85790714	341	26414											
CHD8	57680	genome.wustl.edu	37	chr14	21867861	21867861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgggaaccatatgtcaatCtcactaaaggtataagaggg	15	9	10	7	0	2	1	2	0	1	1	3	2	2	2	1	3	1	1	1	3	7	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:21867861C>G	ENST00000557364.1	-	26	5084	c.4821G>C	c.(4819-4821)gaG>gaC	p.E1607D	CHD8_ENST00000430710.3_Missense_Mutation_p.E1328D|CHD8_ENST00000399982.2_Missense_Mutation_p.E1607D|CHD8_ENST00000555962.1_5'UTR|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1607					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATATGTCAATCTCACTAAAGG	0.423																																																	0													86	83	84					14																	21867861		1982	4176	6158	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.4821G>C	14.37:g.21867861C>G	ENSP00000451601:p.Glu1607Asp		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1607D	ENST00000557364.1	37	c.4821	CCDS53885.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.709|4.709	0.131801|0.131801	0.08981|0.08981	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000555935|ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.|D;D;D	.|0.88354	.|-2.37;-2.37;-2.37	5.44|5.44	4.54|4.54	0.55810|0.55810	.|.	.|0.119705	.|0.56097	.|D	.|0.000034	T|T	0.74129|0.74129	0.3676|0.3676	N|N	0.11284|0.11284	0.12|0.12	0.38463|0.38463	D|D	0.947273|0.947273	.|B	.|0.06786	.|0.001	.|B	.|0.13407	.|0.009	T|T	0.67425|0.67425	-0.5674|-0.5674	5|10	.|0.12766	.|T	.|0.61	-14.2143|-14.2143	7.6239|7.6239	0.28202|0.28202	0.0:0.7765:0.0:0.2235|0.0:0.7765:0.0:0.2235	.|.	.|1328	.|Q9HCK8-2	.|.	H|D	841|1328;1607;1327;1607	.|ENSP00000406288:E1328D;ENSP00000382863:E1607D;ENSP00000451601:E1607D	.|ENSP00000262707:E1327D	D|E	-|-	1|3	0|2	CHD8|CHD8	20937701|20937701	0.475000|0.475000	0.25894|0.25894	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	-0.211000|-0.211000	0.09332|0.09332	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GAT|GAG	CHD8	-	NULL	ENSG00000100888		0.423	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0	36	0	C	NM_020920		21867861	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	G	G	21867861	C	G	21867861	3	3	91	1	0	0	0	0	1	0	0	0	3338	912	32	5	2976	5	CHD8	14	21867861	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	309035	21867861	85481679	342	26415											
OXA1L	9056	genome.wustl.edu	37	chr14	23240489	23240489	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacacaggctggaaaaatgCtgaaatgacgcgtcagctgc	13	8	11	9	2	1	2	1	2	0	0	1	3	1	3	0	2	4	3	0	2	4	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:23240489C>T	ENST00000397532.3	-	0	2447				OXA1L_ENST00000285848.5_Missense_Mutation_p.A432V|SLC7A7_ENST00000554061.1_5'Flank|OXA1L_ENST00000604262.1_Missense_Mutation_p.A372V|OXA1L_ENST00000412791.1_Intron|OXA1L_ENST00000358043.5_Missense_Mutation_p.A356V			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TGGAAAAATGCTGAAATGACG	0.478																																																	0													64	67	66					14																	23240489		2203	4300	6503	SO:0001628	intergenic_variant	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692		14.37:g.23240489C>T			B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C	p.A432V	ENST00000397532.3	37	c.1295	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935901	0.92458	.	.	ENSG00000155463	ENST00000285848;ENST00000358043	T;T	0.35973	1.28;1.33	5.71	5.71	0.89125	.	0.104089	0.64402	D	0.000004	T	0.61800	0.2376	M	0.80183	2.485	0.80722	D	1	P;D	0.89917	0.952;1.0	P;D	0.70935	0.776;0.971	T	0.60219	-0.7306	10	0.36615	T	0.2	-14.5822	16.7594	0.85507	0.0:1.0:0.0:0.0	.	372;432	Q15070;Q2M1J6	OXA1L_HUMAN;.	V	432;356	ENSP00000285848:A432V;ENSP00000350740:A356V	ENSP00000285848:A432V	A	+	2	0	OXA1L	22310329	0.999000	0.42202	0.967000	0.41034	0.849000	0.48306	4.376000	0.59556	2.677000	0.91161	0.609000	0.83330	GCT	OXA1L	-	NULL	ENSG00000155463		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OXA1L	HGNC	protein_coding	OTTHUMT00000071636.3	-	0	50	0	C			23240489	1	tier1	-	no_errors	ENST00000285848	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T	T	23240489	C	T	23240489	1	4	91	0	1	0	0	0	0	0	0	0	11367	797	28	3		3	OXA1L	14	23240489	IGR	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1372628	23240489	84109051	343	26416											
THTPA	79178	genome.wustl.edu	37	chr14	24026198	24026198	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtcttaggaccccacacgGagtataaggaactcacagcg	12	7	11	11	2	2	0	1	0	1	0	2	3	2	3	2	3	2	1	2	3	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:24026198G>T	ENST00000288014.6	+	1	968	c.232G>T	c.(232-234)Gag>Tag	p.E78*	THTPA_ENST00000554970.1_Nonsense_Mutation_p.E78*|RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000404535.3_Nonsense_Mutation_p.E78*|THTPA_ENST00000556015.1_Nonsense_Mutation_p.E78*|RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000554789.1_Nonsense_Mutation_p.E78*			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	78	CYTH. {ECO:0000255|PROSITE- ProRule:PRU01044}.				dephosphorylation (GO:0016311)|generation of precursor metabolites and energy (GO:0006091)|small molecule metabolic process (GO:0044281)|thiamine diphosphate metabolic process (GO:0042357)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)|thiamin-triphosphatase activity (GO:0050333)			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)		ACCCCACACGGAGTATAAGGA	0.597																																																	0													91	80	84					14																	24026198		2203	4300	6503	SO:0001587	stop_gained	0			AF432862	CCDS32053.1, CCDS58306.1, CCDS58307.1	14q11.2	2011-04-28					3.6.1.28		18987	protein-coding gene	gene with protein product		611612				11827967	Standard	NR_046051		Approved	THTPASE	uc001wkh.5	Q9BU02		ENST00000288014.6:c.232G>T	14.37:g.24026198G>T	ENSP00000288014:p.Glu78*		D3DS50|G3V4J3	Nonsense_Mutation	SNP	pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase	p.E78*	ENST00000288014.6	37	c.232	CCDS32053.1	14	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416091	0.62511	.	.	ENSG00000157306	ENST00000404535;ENST00000288014;ENST00000557630;ENST00000556015;ENST00000554970;ENST00000554789	.	.	.	5.38	-1.01	0.10169	.	0.423339	0.28653	N	0.014587	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-5.6339	5.1877	0.15193	0.4316:0.3019:0.2666:0.0	.	.	.	.	X	78	.	ENSP00000288014:E78X	E	+	1	0	THTPA	23096038	0.005000	0.15991	0.108000	0.21378	0.273000	0.26683	-0.135000	0.10420	-0.072000	0.12864	-0.910000	0.02820	GAG	THTPA	-	pfam_CYTH-like_domain,superfamily_CYTH-like_domain,pirsf_ThTPase	ENSG00000259431		0.597	THTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THTPA	HGNC	protein_coding	OTTHUMT00000413800.2	-	0	56	0	G			24026198	1	tier1	-	no_errors	ENST00000288014	ensembl	human	known	74_37	nonsense	11.43	31	4	SNP	0.017	T	T	24026198	G	T	24026198	4	4	91	1	0	0	0	0	0	1	0	0	15928	1175	41	3	234	3	THTPA	14	24026198	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	785709	24026198	83323342	344	26417											
HECTD1	25831	genome.wustl.edu	37	chr14	31614117	31614117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacagctttaaaatggtCatcgtataaatctcgagcca	14	12	6	9	2	3	0	2	0	1	0	5	1	3	0	1	1	3	2	1	1	6	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:31614117C>G	ENST00000399332.1	-	16	3015	c.2527G>C	c.(2527-2529)Gac>Cac	p.D843H	RNU6-541P_ENST00000384709.1_RNA|HECTD1_ENST00000553700.1_Missense_Mutation_p.D843H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	843					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTAAAATGGTCATCGTATAAA	0.338																																																	0													71	67	69					14																	31614117		1865	4104	5969	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"Ankyrin repeat domain containing"	20157	protein-coding gene	gene with protein product			"HECT domain containing 1"			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.2527G>C	14.37:g.31614117C>G	ENSP00000382269:p.Asp843His		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.D843H	ENST00000399332.1	37	c.2527	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244069	0.79912	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957;ENST00000556224	T;T;T;T	0.72505	0.98;0.98;1.46;-0.66	5.54	5.54	0.83059	Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.67468	0.2896	N	0.19112	0.55	0.80722	D	1	D;P	0.61697	0.99;0.917	P;P	0.49922	0.626;0.502	T	0.70714	-0.4796	10	0.51188	T	0.08	-9.4878	19.4923	0.95056	0.0:1.0:0.0:0.0	.	843;843	D3DS86;Q9ULT8	.;HECD1_HUMAN	H	843;843;843;317;843	ENSP00000450697:D843H;ENSP00000382269:D843H;ENSP00000451860:D317H;ENSP00000452015:D843H	ENSP00000261312:D843H	D	-	1	0	HECTD1	30683868	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.072000	0.71238	2.607000	0.88179	0.650000	0.86243	GAC	HECTD1	-	superfamily_ARM-type_fold	ENSG00000092148		0.338	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1		0	46	0	C			31614117	-1			no_errors	ENST00000399332	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	G	G	31614117	C	G	31614117	3	3	91	1	0	0	0	0	1	0	0	0	7066	826	29	5	5417	5	HECTD1	14	31614117	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	7587919	31614117	75735423	345	26418											
SRP54	6729	genome.wustl.edu	37	chr14	35465940	35465940	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctagcagaccttggaagaAaaataacatcagcattacgc	16	9	7	9	1	2	2	1	0	1	2	2	3	2	3	1	1	4	2	1	1	6	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:35465940A>C	ENST00000556994.1	+	3	422	c.25A>C	c.(25-27)Aaa>Caa	p.K9Q	SRP54_ENST00000216774.6_Missense_Mutation_p.K9Q|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000555557.1_5'UTR|SRP54_ENST00000546080.1_5'UTR			P61011	SRP54_HUMAN	signal recognition particle 54kDa	9	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CCTTGGAAGAAAAATAACATC	0.318																																																	0													118	124	122					14																	35465940		2203	4300	6503	SO:0001583	missense	0			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.25A>C	14.37:g.35465940A>C	ENSP00000451818:p.Lys9Gln		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	p.K9Q	ENST00000556994.1	37	c.25	CCDS9652.1	14	.	.	.	.	.	.	.	.	.	.	A	23.9	4.465070	0.84425	.	.	ENSG00000100883	ENST00000556994;ENST00000554803;ENST00000555746;ENST00000216774	.	.	.	6.04	6.04	0.98038	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.000000	0.85682	D	0.000000	T	0.72700	0.3493	M	0.63208	1.945	0.80722	D	1	D	0.59767	0.986	P	0.56916	0.809	T	0.72225	-0.4355	9	0.40728	T	0.16	-22.2933	16.2378	0.82389	1.0:0.0:0.0:0.0	.	9	P61011	SRP54_HUMAN	Q	9	.	ENSP00000216774:K9Q	K	+	1	0	SRP54	34535691	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.062000	0.89475	2.317000	0.78254	0.459000	0.35465	AAA	SRP54	-	pfam_Signal_recog_particl_SRP54_hlx,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,tigrfam_SRP54_euk	ENSG00000100883		0.318	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP54	HGNC	protein_coding	OTTHUMT00000276643.2		0	52	0	A	NM_003136		35465940	1			no_errors	ENST00000216774	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	C	C	35465940	A	C	35465940	3	2	91	1	0	0	0	0	1	0	0	0	15202	15	1	4	27	4	SRP54	14	35465940	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	3851823	35465940	71883600	346	26419											
PRPF39	55015	genome.wustl.edu	37	chr14	45581661	45581661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaattacattttctcaGagaaaagtggaatttcttga	15	14	8	4	0	2	3	1	2	2	2	3	6	2	4	0	1	1	0	0	1	5	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:45581661G>T	ENST00000355765.6	+	11	1883	c.1713G>T	c.(1711-1713)caG>caT	p.Q571H	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	571					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CATTTTCTCAGAGAAAAGTGG	0.274																																																	0													44	48	47					14																	45581661		2200	4293	6493	SO:0001583	missense	0			AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"PRP39 pre-mRNA processing factor 39 homolog (yeast)", "PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1713G>T	14.37:g.45581661G>T	ENSP00000348010:p.Gln571His		Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	smart_HAT	p.Q571H	ENST00000355765.6	37	c.1713	CCDS9682.2	14	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360798	0.41801	.	.	ENSG00000185246	ENST00000355765	T	0.35973	1.28	5.61	2.42	0.29668	.	0.000000	0.85682	D	0.000000	T	0.36276	0.0961	M	0.81802	2.56	0.80722	D	1	B;B	0.33755	0.127;0.424	B;B	0.31337	0.093;0.128	T	0.11743	-1.0575	10	0.51188	T	0.08	-10.8868	7.3237	0.26542	0.4032:0.0:0.5968:0.0	.	175;571	Q86UA1-2;Q86UA1	.;PRP39_HUMAN	H	571	ENSP00000348010:Q571H	ENSP00000348010:Q571H	Q	+	3	2	PRPF39	44651411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.226000	0.32563	0.173000	0.19788	0.467000	0.42956	CAG	PRPF39	-	NULL	ENSG00000185246		0.274	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF39	HGNC	protein_coding	OTTHUMT00000319683.2	-	0	64	0	G			45581661	1	tier1	-	no_errors	ENST00000355765	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	45581661	G	T	45581661	3	4	91	1	0	0	0	0	1	0	0	0	12611	933	33	3	1751	3	PRPF39	14	45581661	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	10115721	45581661	61767879	347	26420											
POLE2	5427	genome.wustl.edu	37	chr14	50133089	50133089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaacaatcgcatctcCgattttggttgtactaccca	11	12	6	12	2	1	1	0	0	1	1	4	2	2	1	3	1	3	3	3	1	5	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:50133089C>T	ENST00000216367.5	-	7	634	c.535G>A	c.(535-537)Gga>Aga	p.G179R	POLE2_ENST00000554396.1_Missense_Mutation_p.G179R|POLE2_ENST00000539565.2_Missense_Mutation_p.G153R|POLE2_ENST00000556584.1_5'UTR	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	179					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	ATCGCATCTCCGATTTTGGTT	0.289																																																	0													95	98	97					14																	50133089		2203	4300	6503	SO:0001583	missense	0			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.535G>A	14.37:g.50133089C>T	ENSP00000216367:p.Gly179Arg		A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu	p.G179R	ENST00000216367.5	37	c.535	CCDS32073.1	14	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770205	0.31320	.	.	ENSG00000100479	ENST00000216367;ENST00000539565;ENST00000554396	T;T;T	0.34667	1.77;1.83;1.35	5.69	2.93	0.34026	.	0.047041	0.85682	D	0.000000	T	0.28366	0.0701	M	0.64997	1.995	0.47949	D	0.999559	P	0.35383	0.498	B	0.25884	0.064	T	0.04413	-1.0953	10	0.41790	T	0.15	-10.1919	7.3504	0.26686	0.0:0.6707:0.1217:0.2076	.	179	P56282	DPOE2_HUMAN	R	179;153;179	ENSP00000216367:G179R;ENSP00000446313:G153R;ENSP00000451621:G179R	ENSP00000216367:G179R	G	-	1	0	POLE2	49202839	1.000000	0.71417	0.517000	0.27799	0.982000	0.71751	5.108000	0.64609	0.366000	0.24427	-0.142000	0.14014	GGA	POLE2	-	pirsf_DNA_pol_e_bsu	ENSG00000100479		0.289	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	HGNC	protein_coding	OTTHUMT00000410512.1	-	0	34	0	C	NM_002692		50133089	-1	tier1	-	no_errors	ENST00000216367	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.875	T	T	50133089	C	T	50133089	3	4	91	1	0	0	0	0	1	0	0	0	12236	661	23	1	1100	1	POLE2	14	50133089	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4551428	50133089	57216451	348	26421											
KIAA0586	9786	genome.wustl.edu	37	chr14	58896142	58896142	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattagaaaatcccatggtGtcagaaagtgtaagcaaaag	17	9	9	6	0	1	2	1	0	0	2	2	2	2	2	1	1	1	2	1	1	8	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:58896142G>A	ENST00000556134.1	+	3	490	c.216G>A	c.(214-216)gtG>gtA	p.V72V	KIAA0586_ENST00000261244.5_Silent_p.V87V|TIMM9_ENST00000395159.2_5'Flank|TIMM9_ENST00000555593.1_5'Flank|TIMM9_ENST00000216463.4_5'Flank|TIMM9_ENST00000556007.2_5'Flank|KIAA0586_ENST00000354386.6_Silent_p.V99V|KIAA0586_ENST00000423743.3_Silent_p.V2V|TIMM9_ENST00000555404.1_5'Flank|RP11-517O13.1_ENST00000556734.1_RNA	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	72					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCCCATGGTGTCAGAAAGTG	0.303																																																	0													122	118	120					14																	58896142		1807	4063	5870	SO:0001819	synonymous_variant	0			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.216G>A	14.37:g.58896142G>A			B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Silent	SNP	NULL	p.V72	ENST00000556134.1	37	c.216	CCDS58321.1	14																																																																																			KIAA0586	-	NULL	ENSG00000100578		0.303	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA0586	HGNC	protein_coding	OTTHUMT00000411887.1		0	50	0	G	NM_014749		58896142	1			no_errors	ENST00000556134	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.041	A	A	58896142	G	A	58896142	2	1	91	1	0	0	0	0	0	0	0	1	8213	1364	48	3		3	KIAA0586	14	58896142	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8763053	58896142	48453398	349	26422											
PRKCH	5583	genome.wustl.edu	37	chr14	61915966	61915966	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatattaacaaagtggattCaaaggtaagaggatagcagt	18	9	10	4	0	1	1	1	0	0	1	1	3	1	3	0	3	2	2	0	3	7	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:61915966C>G	ENST00000332981.5	+	5	1083	c.698C>G	c.(697-699)tCa>tGa	p.S233*	PRKCH_ENST00000555082.1_Nonsense_Mutation_p.S72*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	233					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AAAGTGGATTCAAAGGTAAGA	0.453																																					Melanoma(135;863 1779 8064 14443 26348)												0													162	153	156					14																	61915966		2203	4300	6503	SO:0001587	stop_gained	0			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.698C>G	14.37:g.61915966C>G	ENSP00000329127:p.Ser233*		B4DJN5|Q16246|Q8NE03	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.S233*	ENST00000332981.5	37	c.698	CCDS9752.1	14	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418060	0.83449	.	.	ENSG00000027075	ENST00000556778;ENST00000555906;ENST00000332981;ENST00000555082;ENST00000553831;ENST00000553265;ENST00000557585;ENST00000557473	.	.	.	5.76	4.82	0.62117	.	0.808617	0.11014	N	0.609095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	7.4568	0.27272	0.2866:0.632:0.0:0.0814	.	.	.	.	X	72;72;233;72;72;72;72;72	.	ENSP00000329127:S233X	S	+	2	0	PRKCH	60985719	0.985000	0.35326	0.998000	0.56505	0.939000	0.58152	2.177000	0.42509	2.739000	0.93911	0.555000	0.69702	TCA	PRKCH	-	pirsf_Prot_kin_PKC_delta	ENSG00000027075		0.453	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	HGNC	protein_coding	OTTHUMT00000276974.2		0	35	0	C	NM_006255		61915966	1			no_errors	ENST00000332981	ensembl	human	known	74_37	nonsense	8.33	22	2	SNP	0.830	G	G	61915966	C	G	61915966	4	3	91	1	0	0	0	0	0	1	0	0	12555	838	29	5	716	5	PRKCH	14	61915966	Nonsense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3019824	61915966	45433574	350	26423											
PCNX	22990	genome.wustl.edu	37	chr14	71522254	71522254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcattcaaataccagattGgcttcccagcttgatagaaa	14	11	7	9	0	2	3	2	1	0	2	3	4	3	3	2	1	2	2	2	1	4	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:71522254G>T	ENST00000304743.2	+	25	5057	c.4611G>T	c.(4609-4611)ttG>ttT	p.L1537F	PCNX_ENST00000439984.3_Missense_Mutation_p.L1426F|PCNX_ENST00000238570.5_Missense_Mutation_p.L1537F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1537						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATACCAGATTGGCTTCCCAGC	0.294																																																	0													111	118	115					14																	71522254		2203	4299	6502	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4611G>T	14.37:g.71522254G>T	ENSP00000304192:p.Leu1537Phe		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.L1537F	ENST00000304743.2	37	c.4611	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.01|19.01	3.743714|3.743714	0.69418|0.69418	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.19669|.	2.44;2.23;2.13|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77811|0.77811	0.4186|0.4186	M|M	0.88310|0.88310	2.945|2.945	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.83275|.	0.996;0.993;0.994|.	T|T	0.80487|0.80487	-0.1361|-0.1361	10|5	0.87932|.	D|.	0|.	.|.	10.76|10.76	0.46259|0.46259	0.1445:0.0:0.8555:0.0|0.1445:0.0:0.8555:0.0	.|.	1537;1426;1537|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	F|L	1537;1537;1426|596	ENSP00000304192:L1537F;ENSP00000238570:L1537F;ENSP00000396617:L1426F|.	ENSP00000238570:L1537F|.	L|W	+|+	3|2	2|0	PCNX|PCNX	70592007|70592007	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.638000|1.638000	0.37165|0.37165	1.400000|1.400000	0.46741|0.46741	0.650000|0.650000	0.86243|0.86243	TTG|TGG	PCNX	-	NULL	ENSG00000100731		0.294	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0	36	0	G	NM_014982		71522254	1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	71522254	G	T	71522254	3	4	91	1	0	0	0	0	1	0	0	0	11630	1339	47	3	4709	3	PCNX	14	71522254	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	9606288	71522254	35827286	351	26424											
RBM25	58517	genome.wustl.edu	37	chr14	73577780	73577780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggatgagtctccctgtgGtattattattcctcatgaaa	9	15	10	7	0	2	2	1	2	1	0	4	3	3	3	2	3	0	1	2	3	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:73577780G>T	ENST00000261973.7	+	15	2219	c.1934G>T	c.(1933-1935)gGt>gTt	p.G645V	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.G645V	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	645					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TCTCCCTGTGGTATTATTATT	0.468																																																	0													98	87	91					14																	73577780		2203	4300	6503	SO:0001583	missense	0			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"RNA binding motif (RRM) containing"	23244	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 94"	612427	"RNA-binding region (RNP1, RRM) containing 7"	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1934G>T	14.37:g.73577780G>T	ENSP00000261973:p.Gly645Val		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom	p.G645V	ENST00000261973.7	37	c.1934	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396306	0.83011	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.13307	2.6;2.6	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00701	-1.1603	10	0.30854	T	0.27	.	19.6585	0.95853	0.0:0.0:1.0:0.0	.	645	P49756	RBM25_HUMAN	V	645	ENSP00000261973:G645V;ENSP00000431150:G645V	ENSP00000261973:G645V	G	+	2	0	RBM25	72647533	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.657000	0.90304	0.467000	0.42956	GGT	RBM25	-	NULL	ENSG00000119707		0.468	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	-	0	25	0	G	XM_027330		73577780	1	tier1	-	no_errors	ENST00000261973	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	T	T	73577780	G	T	73577780	3	4	91	1	0	0	0	0	1	0	0	0	13170	1261	44	3	1988	3	RBM25	14	73577780	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2055526	73577780	33771760	352	26425											
PSEN1	5663	genome.wustl.edu	37	chr14	73673101	73673101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcccaacagcaacaatGgtgtggttggtgaatatggc	10	12	11	8	0	1	1	0	1	1	0	2	1	2	1	1	4	3	2	1	4	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:73673101G>C	ENST00000324501.5	+	9	1148	c.876G>C	c.(874-876)atG>atC	p.M292I	PSEN1_ENST00000357710.4_Missense_Mutation_p.M288I|PSEN1_ENST00000557511.1_Missense_Mutation_p.M292I|PSEN1_ENST00000261970.3_Missense_Mutation_p.M292I|PSEN1_ENST00000394164.1_Missense_Mutation_p.M288I|PSEN1_ENST00000406768.1_Missense_Mutation_p.M200I|PSEN1_ENST00000344094.3_Missense_Mutation_p.M292I	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	292		Cleavage; alternate.			activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CAGCAACAATGGTGTGGTTGG	0.408																																																	0													101	95	97					14																	73673101		2203	4300	6503	SO:0001583	missense	0			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"Alzheimer disease 3"	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.876G>C	14.37:g.73673101G>C	ENSP00000326366:p.Met292Ile		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS1,prints_Peptidase_A22A	p.M292I	ENST00000324501.5	37	c.876	CCDS9812.1	14	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635406	0.67130	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000261970;ENST00000344094;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D	0.99488	-6.0;-6.0;-6.0;-6.0;-6.0;-6.0;-6.0	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.70275	2.135	0.80722	D	1	B;D	0.60575	0.078;0.988	B;D	0.75020	0.155;0.985	D	0.99911	1.1201	10	0.29301	T	0.29	-25.0433	18.5235	0.90962	0.0:0.0:1.0:0.0	.	288;292	P49768-2;P49768	.;PSN1_HUMAN	I	292;288;292;292;288;292;200	ENSP00000326366:M292I;ENSP00000350342:M288I;ENSP00000261970:M292I;ENSP00000339523:M292I;ENSP00000377719:M288I;ENSP00000451429:M292I;ENSP00000385948:M200I	ENSP00000261970:M292I	M	+	3	0	PSEN1	72742854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.496000	0.90485	2.471000	0.83476	0.650000	0.86243	ATG	PSEN1	-	pfam_Peptidase_A22A,smart_Preselin/SPP	ENSG00000080815		0.408	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSEN1	HGNC	protein_coding	OTTHUMT00000280500.2	-	0	50	0	G			73673101	1	tier1	-	no_errors	ENST00000324501	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	C	C	73673101	G	C	73673101	3	2	91	1	0	0	0	0	1	0	0	0	12692	1348	47	5	902	5	PSEN1	14	73673101	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	95321	73673101	33676439	353	26426											
VSX2	338917	genome.wustl.edu	37	chr14	74726342	74726342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgagccaagtggaggaagcGggagaagtgctggggccgga	10	4	20	7	3	0	1	0	0	0	1	1	6	0	4	2	6	3	1	2	6	3	0	rs138619416		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:74726342G>C	ENST00000261980.2	+	4	707	c.617G>C	c.(616-618)cGg>cCg	p.R206P		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	206					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TGGAGGAAGCGGGAGAAGTGC	0.632																																																	0													122	102	109					14																	74726342		2203	4300	6503	SO:0001583	missense	0			AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"Homeoboxes / PRD class"	1975	protein-coding gene	gene with protein product		142993	"C elegans ceh-10 homeo domain-containing homolog", "ceh-10 homeo domain containing homolog (C. elegans)", "ceh-10 homeodomain containing homolog (C. elegans)"	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.617G>C	14.37:g.74726342G>C	ENSP00000261980:p.Arg206Pro		A1A4X6	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.R206P	ENST00000261980.2	37	c.617	CCDS9827.1	14	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490982	0.84962	.	.	ENSG00000119614	ENST00000261980	D	0.95853	-3.83	5.04	5.04	0.67666	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.053251	0.64402	D	0.000001	D	0.97263	0.9105	M	0.68593	2.085	0.54753	D	0.999986	D	0.69078	0.997	D	0.70487	0.969	D	0.97807	1.0248	10	0.87932	D	0	.	18.5918	0.91215	0.0:0.0:1.0:0.0	.	206	P58304	VSX2_HUMAN	P	206	ENSP00000261980:R206P	ENSP00000261980:R206P	R	+	2	0	VSX2	73796095	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.693000	0.84214	2.630000	0.89119	0.655000	0.94253	CGG	VSX2	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000119614		0.632	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX2	HGNC	protein_coding	OTTHUMT00000412323.1	-	0	59	0	G	NM_182894		74726342	1	tier1	-	no_errors	ENST00000261980	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.999	C	C	74726342	G	C	74726342	3	2	91	1	0	0	0	0	1	0	0	0	17281	1116	39	5	631	5	VSX2	14	74726342	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1053241	74726342	32623198	354	26427											
KIAA1737	85457	genome.wustl.edu	37	chr14	77572081	77572081	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaacccatccagagagagCcccagaagactctctgccaa	16	4	7	14	0	1	4	0	0	1	4	3	5	2	4	5	0	3	0	5	0	4	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:77572081C>T	ENST00000361786.2	+	2	347	c.30C>T	c.(28-30)agC>agT	p.S10S	RP11-463C8.4_ENST00000557752.1_Silent_p.S10S|KIAA1737_ENST00000555611.1_Silent_p.S10S|KIAA1737_ENST00000555437.1_Silent_p.S10S	NM_033426.2	NP_219494.2	Q9C0C6	CIPC_HUMAN		10					negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		CCAGAGAGAGCCCCAGAAGAC	0.478																																																	0													111	113	112					14																	77572081		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000361786.2:c.30C>T	14.37:g.77572081C>T			B2RCI1|Q8N389|Q8NDZ1	Silent	SNP	NULL	p.S10	ENST00000361786.2	37	c.30	CCDS9855.1	14																																																																																			KIAA1737	-	NULL	ENSG00000198894		0.478	KIAA1737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1737	HGNC	protein_coding	OTTHUMT00000414278.1	-	0	27	0	C			77572081	1	tier1	-	no_errors	ENST00000361786	ensembl	human	known	74_37	silent	16.00	21	4	SNP	1.000	T	T	77572081	C	T	77572081	2	4	91	1	0	0	0	0	0	0	0	1	8282	738	26	3		3	KIAA1737	14	77572081	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2845739	77572081	29777459	355	26428											
C14orf174	161394	genome.wustl.edu	37	chr14	77845169	77845169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctctcagagaaagtgaaGaatcaattggtacacattat	16	11	8	6	0	3	3	2	1	1	2	4	5	3	3	0	1	1	1	0	1	6	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:77845169G>C	ENST00000216471.4	+	1	1694	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	470										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGAAAGTGAAGAATCAATTGG	0.388																																																	0													98	99	98					14																	77845169		2203	4300	6503	SO:0001583	missense	0			AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"Sterile alpha motif (SAM) domain containing"	18631	protein-coding gene	gene with protein product			"family with sequence similarity 15, member A", "chromosome 14 open reading frame 174"	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1408G>C	14.37:g.77845169G>C	ENSP00000216471:p.Glu470Gln		Q2M3P3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E470Q	ENST00000216471.4	37	c.1408	CCDS32126.1	14	.	.	.	.	.	.	.	.	.	.	G	7.952	0.745014	0.15710	.	.	ENSG00000100583	ENST00000216471	T	0.21191	2.02	4.03	-0.189	0.13260	.	2.742020	0.01529	N	0.018717	T	0.11879	0.0289	N	0.14661	0.345	0.09310	N	1	P	0.38978	0.652	B	0.35813	0.211	T	0.16630	-1.0396	10	0.18276	T	0.48	1.0202	6.1244	0.20172	0.5441:0.0:0.4559:0.0	.	470	Q9P1V8	SAM15_HUMAN	Q	470	ENSP00000216471:E470Q	ENSP00000216471:E470Q	E	+	1	0	SAMD15	76914922	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.026000	0.12392	0.063000	0.16370	-0.266000	0.10368	GAA	SAMD15	-	NULL	ENSG00000100583		0.388	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD15	HGNC	protein_coding	OTTHUMT00000394587.2		0	36	0	G	NM_001010860		77845169	1			no_errors	ENST00000216471	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.000	C	C	77845169	G	C	77845169	3	2	91	1	0	0	0	0	1	0	0	0	1764	943	33	5	1410	5	C14orf174	14	77845169	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	273088	77845169	29504371	356	26429											
TSHR	7253	genome.wustl.edu	37	chr14	81610476	81610476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagggatgtgttcatcCtactcagcaagtttggcatc	9	12	10	10	0	2	1	2	0	0	1	5	2	4	2	2	2	2	4	2	2	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:81610476C>A	ENST00000541158.2	+	11	2396	c.2074C>A	c.(2074-2076)Cta>Ata	p.L692I	TSHR_ENST00000298171.2_Missense_Mutation_p.L692I|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	692					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGTGTTCATCCTACTCAGCAA	0.478			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													156	148	150					14																	81610476		2203	4300	6503	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"GPCR / Class A : Gonadotropin and TSH receptors"	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.2074C>A	14.37:g.81610476C>A	ENSP00000441235:p.Leu692Ile		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.L692I	ENST00000541158.2	37	c.2074	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422285	0.62622	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.94232	-3.38;-3.38	5.23	3.32	0.38043	.	0.000000	0.85682	D	0.000000	D	0.96430	0.8835	M	0.88906	2.99	0.53688	D	0.99997	D	0.89917	1.0	D	0.87578	0.998	D	0.95879	0.8897	10	0.87932	D	0	.	8.6598	0.34086	0.0:0.7465:0.0:0.2535	.	692	F5GYU5	.	I	692;339;692	ENSP00000441235:L692I;ENSP00000298171:L692I	ENSP00000298171:L692I	L	+	1	2	TSHR	80680229	0.999000	0.42202	1.000000	0.80357	0.992000	0.81027	2.183000	0.42565	1.131000	0.42111	0.561000	0.74099	CTA	TSHR	-	prints_Gphrmn_rcpt_fam	ENSG00000165409		0.478	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1		0	74	0	C	NM_000369		81610476	1			no_errors	ENST00000298171	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	81610476	C	A	81610476	3	1	91	1	0	0	0	0	1	0	0	0	16670	680	24	3	2249	3	TSHR	14	81610476	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3765307	81610476	25739064	357	26430											
KCNK13	56659	genome.wustl.edu	37	chr14	90651010	90651010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgaggaaaatggacagcgGgtgctgcccgcaatgccaga	11	5	14	11	2	0	2	0	1	0	1	0	4	0	4	3	3	4	2	3	3	3	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:90651010G>T	ENST00000282146.4	+	2	1331	c.890G>T	c.(889-891)gGg>gTg	p.G297V		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGGACAGCGGGTGCTGCCCG	0.532																																																	0													73	79	77					14																	90651010		2203	4300	6503	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.890G>T	14.37:g.90651010G>T	ENSP00000282146:p.Gly297Val		B5TJL8|Q96E79	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.G297V	ENST00000282146.4	37	c.890	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	G	0.088	-1.172518	0.01646	.	.	ENSG00000152315	ENST00000282146	T	0.11930	2.73	5.3	1.63	0.23807	.	1.327990	0.05258	N	0.515280	T	0.15262	0.0368	L	0.50333	1.59	0.19575	N	0.999964	B	0.14438	0.01	B	0.20184	0.028	T	0.36040	-0.9764	10	0.31617	T	0.26	.	8.2203	0.31537	0.2992:0.1137:0.5871:0.0	.	297	Q9HB14	KCNKD_HUMAN	V	297	ENSP00000282146:G297V	ENSP00000282146:G297V	G	+	2	0	KCNK13	89720763	0.851000	0.29673	0.013000	0.15412	0.038000	0.13279	1.403000	0.34612	0.499000	0.27970	0.655000	0.94253	GGG	KCNK13	-	NULL	ENSG00000152315		0.532	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	HGNC	protein_coding	OTTHUMT00000411251.1		0	31	0	G	NM_022054		90651010	1			no_errors	ENST00000282146	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.012	T	T	90651010	G	T	90651010	3	4	91	1	0	0	0	0	1	0	0	0	8088	1232	43	3	896	3	KCNK13	14	90651010	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	9040534	90651010	16698530	358	26431											
CCDC88C	440193	genome.wustl.edu	37	chr14	91787488	91787490	+	In_Frame_Del	DEL	CTT	CTT	-																															ttgctgagctggtggttctcCttctccagctccccgcactt																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:91787488_91787490delCTT	ENST00000389857.6	-	13	1587_1589	c.1501_1503delAAG	c.(1501-1503)aagdel	p.K501del		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	501					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGTGGTTCTCCTTCTCCAGCTCC	0.631																																																	0																																										SO:0001651	inframe_deletion	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1501_1503delAAG	14.37:g.91787488_91787490delCTT	ENSP00000374507:p.Lys501del		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	In_Frame_Del	DEL	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.K501in_frame_del	ENST00000389857.6	37	c.1503_1501	CCDS45151.1	14																																																																																			CCDC88C	-	pfam_Hook-related_fam	ENSG00000015133		0.631	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1		0	33	0	CTT	XM_029353		91787490	-1	tier1		no_errors	ENST00000389857	ensembl	human	known	74_37	in_frame_del	16.67	10	2	DEL	1.000:1.000:1.000	-	-	91787490	CTT	-	91787488	7	5	91	1	0	1	0	1	0	0	0	0	2872	680	24	0	4655	0	CCDC88C	14	91787488	In_Frame_Del	DEL	CTT	TCGA-L5-A8NS-01A-12D-A37C-09	1136478	91787488	15562052	359	26432											
SERPINA10	51156	genome.wustl.edu	37	chr14	94752565	94752565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcatacttctgatctagCttgaacttcggaaagaaaac	14	12	6	9	1	3	3	1	2	3	1	5	4	3	4	0	1	4	1	0	1	6	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:94752565C>A	ENST00000393096.1	-	4	1488	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	SERPINA10_ENST00000554173.1_Missense_Mutation_p.K341N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K341N|SERPINA10_ENST00000554723.1_Missense_Mutation_p.K381N	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	341					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCTGATCTAGCTTGAACTTCG	0.433																																																	0													148	135	139					14																	94752565		2203	4300	6503	SO:0001583	missense	0			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"Serine (or cysteine) peptidase inhibitors"	15996	protein-coding gene	gene with protein product		605271	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1023G>T	14.37:g.94752565C>A	ENSP00000376809:p.Lys341Asn		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K341N	ENST00000393096.1	37	c.1023	CCDS9923.1	14	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071119	0.36566	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	5.34	5.34	0.76211	Serpin domain (3);	0.000000	0.64402	D	0.000009	D	0.89849	0.6834	M	0.87456	2.885	0.52501	D	0.999957	D	0.56968	0.978	P	0.49953	0.627	D	0.90395	0.4398	10	0.62326	D	0.03	.	7.349	0.26680	0.0:0.7914:0.0:0.2086	.	341	Q9UK55	ZPI_HUMAN	N	381;341;341;341	ENSP00000450896:K381N;ENSP00000376809:K341N;ENSP00000261994:K341N;ENSP00000450971:K341N	ENSP00000261994:K341N	K	-	3	2	SERPINA10	93822318	1.000000	0.71417	0.981000	0.43875	0.019000	0.09904	2.399000	0.44495	2.512000	0.84698	0.563000	0.77884	AAG	SERPINA10	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000140093		0.433	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA10	HGNC	protein_coding	OTTHUMT00000413061.1		0	26	0	C	NM_016186		94752565	-1			no_errors	ENST00000261994	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A	A	94752565	C	A	94752565	3	1	91	1	0	0	0	0	1	0	0	0	14132	796	28	3	319	3	SERPINA10	14	94752565	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2965077	94752565	12596975	360	26433											
DICER1	23405	genome.wustl.edu	37	chr14	95569780	95569780	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttaaaaaggagtcgccaAgcatttcaagccgctccagg	12	8	10	11	2	1	0	1	0	0	0	3	1	2	1	3	2	2	3	3	2	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:95569780A>C	ENST00000526495.1	-	23	4244	c.3953T>G	c.(3952-3954)cTt>cGt	p.L1318R	DICER1_ENST00000556045.1_Missense_Mutation_p.L216R|DICER1_ENST00000393063.1_Missense_Mutation_p.L1318R|DICER1_ENST00000541352.1_Missense_Mutation_p.L1318R|DICER1_ENST00000343455.3_Missense_Mutation_p.L1318R|DICER1_ENST00000527414.1_Missense_Mutation_p.L1318R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1318	RNase III 1. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGAGTCGCCAAGCATTTCAAG	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	0													59	63	62					14																	95569780		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3953T>G	14.37:g.95569780A>C	ENSP00000437256:p.Leu1318Arg		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.L1318R	ENST00000526495.1	37	c.3953	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362739	0.82353	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.33	5.33	0.75918	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	H	0.96175	3.78	0.80722	D	1	D;P;P	0.76494	0.999;0.956;0.952	D;D;P	0.75020	0.985;0.932;0.905	D	0.96317	0.9233	10	0.87932	D	0	-17.0038	15.2834	0.73806	1.0:0.0:0.0:0.0	.	216;1318;1318	B3KRG4;E0AD28;Q9UPY3	.;.;DICER_HUMAN	R	1318;1318;1318;1318;216;1318	ENSP00000343745:L1318R;ENSP00000437256:L1318R;ENSP00000376783:L1318R;ENSP00000435681:L1318R;ENSP00000451041:L216R;ENSP00000444719:L1318R	ENSP00000343745:L1318R	L	-	2	0	DICER1	94639533	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	9.300000	0.96151	2.018000	0.59344	0.402000	0.26972	CTT	DICER1	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,pfscan_RNase_III_dom	ENSG00000100697		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1		0	38	0	A			95569780	-1			no_errors	ENST00000343455	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	C	C	95569780	A	C	95569780	3	2	91	1	0	0	0	0	1	0	0	0	4535	72	3	4	1843	4	DICER1	14	95569780	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	817215	95569780	11779760	361	26434											
WDR20	91833	genome.wustl.edu	37	chr14	102676056	102676056	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacgcccctgtgtcctcgaAtggaagatgttcccttgtta	8	12	10	11	2	0	1	0	0	0	1	3	4	2	2	4	1	1	2	4	1	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:102676056A>T	ENST00000342702.3	+	3	1580	c.1549A>T	c.(1549-1551)Atg>Ttg	p.M517L	WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Missense_Mutation_p.M456L|WDR20_ENST00000556511.2_Missense_Mutation_p.M456L|WDR20_ENST00000424963.2_Missense_Mutation_p.M393L|WDR20_ENST00000454394.2_Missense_Mutation_p.M548L|WDR20_ENST00000335263.5_Missense_Mutation_p.M517L|WDR20_ENST00000545563.1_Missense_Mutation_p.M344L|WDR20_ENST00000499851.2_Missense_Mutation_p.M260L|WDR20_ENST00000322340.5_Intron	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	517										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GTGTCCTCGAATGGAAGATGT	0.433											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													98	96	96					14																	102676056		2203	4300	6503	SO:0001583	missense	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"WD repeat domain containing"	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1549A>T	14.37:g.102676056A>T	ENSP00000341037:p.Met517Leu	1368	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M548L	ENST00000342702.3	37	c.1642	CCDS9969.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.63|12.63	1.995416|1.995416	0.35226|0.35226	.|.	.|.	ENSG00000140153|ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000499851;ENST00000454394;ENST00000401892;ENST00000545563|ENST00000556511	T;T;T;T;T;T;T|.	0.71817|.	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.6|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62258|0.62258	0.2413|0.2413	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|.	0.31790|.	0.004;0.001;0.002;0.002;0.003;0.34;0.001|.	B;B;B;B;B;P;B|.	0.44394|.	0.006;0.002;0.001;0.006;0.009;0.448;0.002|.	T|T	0.58657|0.58657	-0.7598|-0.7598	10|5	0.20046|.	T|.	0.44|.	.|.	16.2159|16.2159	0.82217|0.82217	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	548;529;456;517;456;393;517|.	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3|.	.;.;.;.;.;.;WDR20_HUMAN|.	L|I	517;456;393;517;456;260;548;447;344|447	ENSP00000335434:M517L;ENSP00000395793:M393L;ENSP00000341037:M517L;ENSP00000450636:M456L;ENSP00000443641:M260L;ENSP00000406084:M548L;ENSP00000437927:M344L|.	ENSP00000299135:M456L|.	M|N	+|+	1|2	0|0	WDR20|WDR20	101745809|101745809	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.998000|0.998000	0.95712|0.95712	8.954000|8.954000	0.93051|0.93051	2.243000|2.243000	0.73865|0.73865	0.533000|0.533000	0.62120|0.62120	ATG|AAT	WDR20	-	NULL	ENSG00000140153		0.433	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1		0	10	0	A	NM_181291		102676056	1			no_errors	ENST00000454394	ensembl	human	known	74_37	missense	33.33	4	2	SNP	1.000	T	T	102676056	A	T	102676056	3	4	91	1	0	0	0	0	1	0	0	0	17329	101	4	5	1576	5	WDR20	14	102676056	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7106276	102676056	4673484	362	26435											
TECPR2	9895	genome.wustl.edu	37	chr14	102916092	102916092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcagataagctgcgcatgGcgttttggtcccagcagctt	7	11	13	10	2	0	1	0	0	0	1	1	1	1	1	1	3	4	6	1	3	1	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr14:102916092G>C	ENST00000359520.7	+	14	3428	c.3202G>C	c.(3202-3204)Gcg>Ccg	p.A1068P	TECPR2_ENST00000558678.1_Missense_Mutation_p.A1068P	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1068					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCTGCGCATGGCGTTTTGGTC	0.552																																																	0													102	91	94					14																	102916092		2203	4300	6503	SO:0001583	missense	0			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"KIAA0329"	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.3202G>C	14.37:g.102916092G>C	ENSP00000352510:p.Ala1068Pro		A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR	p.A1068P	ENST00000359520.7	37	c.3202	CCDS32162.1	14	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562888	0.86335	.	.	ENSG00000196663	ENST00000359520	T	0.17528	2.27	5.52	5.52	0.82312	.	0.057509	0.64402	D	0.000002	T	0.23688	0.0573	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.61658	0.883;0.883;0.892	T	0.01363	-1.1374	10	0.62326	D	0.03	.	12.7387	0.57239	0.075:0.0:0.925:0.0	.	251;1068;1068	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	P	1068	ENSP00000352510:A1068P	ENSP00000352510:A1068P	A	+	1	0	TECPR2	101985845	1.000000	0.71417	0.998000	0.56505	0.838000	0.47535	6.475000	0.73582	2.606000	0.88127	0.563000	0.77884	GCG	TECPR2	-	superfamily_RCC1/BLIP-II	ENSG00000196663		0.552	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2		0	31	0	G	NM_014844		102916092	1			no_errors	ENST00000359520	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	C	C	102916092	G	C	102916092	3	2	91	1	0	0	0	0	1	0	0	0	15791	1203	42	5	3252	5	TECPR2	14	102916092	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	240036	102916092	4433448	363	26436											
CYFIP1	23191	genome.wustl.edu	37	chr15	22998467	22998467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaaagactagaatcaaaGtacgccccgctgcatcttgt	14	9	8	10	2	2	3	1	1	1	2	2	3	2	3	2	0	2	3	2	0	6	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:22998467G>A	ENST00000313077.7	+	28	3284	c.3159G>A	c.(3157-3159)aaG>aaA	p.K1053K	CYFIP1_ENST00000435939.2_Silent_p.K622K|CYFIP1_ENST00000560848.1_Silent_p.K1053K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TAGAATCAAAGTACGCCCCGC	0.468																																																	0													64	58	60					15																	22998467		2203	4300	6503	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3159G>A	15.37:g.22998467G>A				Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.K1053	ENST00000313077.7	37	c.3159	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.468	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2		0	43	0	G	NM_014608		22998467	1			no_errors	ENST00000313077	ensembl	human	known	74_37	silent	10.00	27	3	SNP	1.000	A	A	22998467	G	A	22998467	2	1	91	1	0	0	0	0	0	0	0	1	4146	1020	36	3		3	CYFIP1	15	22998467	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		22998467	79532925	364	26437											
CYFIP1	23191	genome.wustl.edu	37	chr15	22999460	22999460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatgaccccatctggcgcgGgcctctgcccagcaatgggg	6	6	15	14	2	2	1	0	1	2	0	2	2	2	2	4	5	2	1	4	5	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:22999460G>A	ENST00000313077.7	+	29	3457	c.3332G>A	c.(3331-3333)gGg>gAg	p.G1111E	CYFIP1_ENST00000435939.2_Missense_Mutation_p.G680E|CYFIP1_ENST00000560848.1_Missense_Mutation_p.G1111E	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCTGGCGCGGGCCTCTGCCC	0.592																																																	0													65	63	64					15																	22999460		2203	4300	6503	SO:0001583	missense	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"selective hybridizing clone", "cytoplasmic FMRP interacting protein 1"	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.3332G>A	15.37:g.22999460G>A	ENSP00000324549:p.Gly1111Glu			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.G1111E	ENST00000313077.7	37	c.3332	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.498800	0.96355	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.30182	1.54;1.54	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000002	T	0.56587	0.1995	M	0.66506	2.035	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.986	T	0.56438	-0.7979	10	0.59425	D	0.04	-39.8728	19.4921	0.95054	0.0:0.0:1.0:0.0	.	680;1111	Q7L576-2;Q7L576	.;CYFP1_HUMAN	E	1111;1113;680	ENSP00000324549:G1111E;ENSP00000405956:G680E	ENSP00000324549:G1111E	G	+	2	0	CYFIP1	20550901	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.807000	0.99171	2.624000	0.88883	0.561000	0.74099	GGG	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.592	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	-	0	31	0	G	NM_014608		22999460	1	tier1	-	no_errors	ENST00000313077	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	A	A	22999460	G	A	22999460	3	1	91	1	0	0	0	0	1	0	0	0	4146	1232	43	3	3823	3	CYFIP1	15	22999460	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	993	22999460	79531932	365	26438											
RYR3	6263	genome.wustl.edu	37	chr15	34064293	34064293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaactacactacagtggctCtgctccccatcctgacgtcc	8	11	6	16	1	1	1	0	1	1	0	4	1	4	1	4	1	4	2	4	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:34064293C>A	ENST00000389232.4	+	63	9059	c.8989C>A	c.(8989-8991)Ctg>Atg	p.L2997M	RYR3_ENST00000415757.3_Missense_Mutation_p.L2997M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2997					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TACAGTGGCTCTGCTCCCCAT	0.448																																																	0													95	90	92					15																	34064293		1966	4150	6116	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8989C>A	15.37:g.34064293C>A	ENSP00000373884:p.Leu2997Met		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.L2997M	ENST00000389232.4	37	c.8989	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366089	0.61513	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97870	-4.57;-4.58	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000015	D	0.97742	0.9259	L	0.52266	1.64	0.45662	D	0.998582	D;D	0.89917	0.998;1.0	D;D	0.91635	0.955;0.999	D	0.96687	0.9508	10	0.56958	D	0.05	.	9.7911	0.40706	0.0:0.8483:0.0:0.1517	.	2997;2997	Q15413-2;Q15413	.;RYR3_HUMAN	M	2997	ENSP00000373884:L2997M;ENSP00000399610:L2997M	ENSP00000354735:L2997M	L	+	1	2	RYR3	31851585	0.970000	0.33590	1.000000	0.80357	0.680000	0.39746	1.613000	0.36900	2.941000	0.99782	0.655000	0.94253	CTG	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0	40	0	C			34064293	1			no_errors	ENST00000389232	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A	A	34064293	C	A	34064293	3	1	91	1	0	0	0	0	1	0	0	0	13815	912	32	3	9239	3	RYR3	15	34064293	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	11064833	34064293	68467099	366	26439											
SLC12A6	9990	genome.wustl.edu	37	chr15	34546616	34546616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagatggacacaatgaCacaggccaggaaaagtgagg	16	3	14	8	0	0	3	0	2	0	1	0	5	0	5	2	5	0	0	2	5	4	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:34546616C>T	ENST00000354181.3	-	9	1543	c.1051G>A	c.(1051-1053)Gtc>Atc	p.V351I	SLC12A6_ENST00000397702.2_Missense_Mutation_p.V292I|SLC12A6_ENST00000451844.2_Missense_Mutation_p.V163I|SLC12A6_ENST00000290209.5_Missense_Mutation_p.V300I|SLC12A6_ENST00000558589.1_Missense_Mutation_p.V342I|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000458406.2_Missense_Mutation_p.V292I|SLC12A6_ENST00000560611.1_Missense_Mutation_p.V351I|SLC12A6_ENST00000558667.1_Missense_Mutation_p.V351I|SLC12A6_ENST00000397707.2_Missense_Mutation_p.V336I|SLC12A6_ENST00000560164.1_Missense_Mutation_p.V163I			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	351					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACACAATGACACAGGCCAGG	0.488																																																	0													156	131	140					15																	34546616		2201	4298	6499	SO:0001583	missense	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"Solute carriers"	10914	protein-coding gene	gene with protein product		604878	"agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.1051G>A	15.37:g.34546616C>T	ENSP00000346112:p.Val351Ile		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.V342I	ENST00000354181.3	37	c.1024	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.339841	0.95783	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.98717	-5.09;-5.09;-5.09;-5.09;-5.09	5.1	5.1	0.69264	Amino acid permease domain (1);	0.000000	0.64402	D	0.000002	D	0.98588	0.9528	L	0.45285	1.41	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.997	D;D;D;D	0.81914	0.986;0.988;0.985;0.995	D	0.99894	1.1143	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	336;351;300;163	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	I	300;336;342;292;292;163	ENSP00000290209:V300I;ENSP00000380819:V336I;ENSP00000380814:V292I;ENSP00000387725:V292I;ENSP00000390199:V163I	ENSP00000290209:V300I	V	-	1	0	SLC12A6	32333908	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	GTC	SLC12A6	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000140199		0.488	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	-	0	54	0	C	NM_005135		34546616	-1	tier1	-	no_errors	ENST00000558589	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	T	T	34546616	C	T	34546616	3	4	91	1	0	0	0	0	1	0	0	0	14432	478	17	3	2473	3	SLC12A6	15	34546616	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	482323	34546616	67984776	367	26440											
PAK6	56924	genome.wustl.edu	37	chr15	40558592	40558592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccctagccctaagaccCgggagagcagcctgaagcgc	10	3	13	15	2	0	3	0	1	0	2	0	4	0	3	4	1	5	2	4	1	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:40558592C>T	ENST00000542403.2	+	3	865	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	PAK6_ENST00000260404.4_Missense_Mutation_p.R252W|PAK6_ENST00000453867.1_Missense_Mutation_p.R252W|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000455577.2_Missense_Mutation_p.R252W|PAK6_ENST00000441369.1_Missense_Mutation_p.R252W|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.R252W	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	252	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCCTAAGACCCGGGAGAGCAG	0.662																																																	0													31	34	33					15																	40558592		2199	4296	6495	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"p21(CDKN1A)-activated kinase 6"			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.754C>T	15.37:g.40558592C>T	ENSP00000439597:p.Arg252Trp		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.R252W	ENST00000542403.2	37	c.754	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262284	0.59431	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74737	-0.83;-0.83;-0.87;-0.83;-0.83	5.35	5.35	0.76521	.	0.923198	0.09243	N	0.828997	T	0.65811	0.2727	N	0.19112	0.55	0.24219	N	0.995443	P;P	0.52842	0.926;0.956	B;B	0.42882	0.226;0.401	T	0.60831	-0.7185	10	0.59425	D	0.04	.	14.6188	0.68569	0.2131:0.7869:0.0:0.0	.	252;252	Q9NQU5;G5E9R2	PAK6_HUMAN;.	W	252	ENSP00000406873:R252W;ENSP00000401153:R252W;ENSP00000409465:R252W;ENSP00000260404:R252W;ENSP00000439597:R252W	ENSP00000260404:R252W	R	+	1	2	PAK6	38345884	0.555000	0.26530	0.991000	0.47740	0.955000	0.61496	1.145000	0.31577	2.521000	0.84997	0.462000	0.41574	CGG	PAK6	-	NULL	ENSG00000137843		0.662	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	-	0	58	0	C			40558592	1	tier1	-	no_errors	ENST00000260404	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.944	T	T	40558592	C	T	40558592	3	4	91	1	0	0	0	0	1	0	0	0	11443	643	23	1	760	1	PAK6	15	40558592	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6011976	40558592	61972800	368	26441											
CASC5	57082	genome.wustl.edu	37	chr15	40914281	40914281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctcactctcagagcaaaAgctcttcagatgaatgtgaa	15	10	7	9	0	4	4	3	2	3	2	6	4	4	4	0	0	2	2	0	0	5	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:40914281A>G	ENST00000346991.5	+	11	2287	c.1897A>G	c.(1897-1899)Agc>Ggc	p.S633G	CASC5_ENST00000399668.2_Missense_Mutation_p.S607G|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	633	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TCAGAGCAAAAGCTCTTCAGA	0.408																																																	0													53	50	51					15																	40914281		1875	4111	5986	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1897A>G	15.37:g.40914281A>G	ENSP00000335463:p.Ser633Gly		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.S633G	ENST00000346991.5	37	c.1897	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826301	0.32329	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.19394	2.15;2.15	4.84	4.84	0.62591	.	0.320512	0.27076	N	0.021050	T	0.22666	0.0547	M	0.66939	2.045	0.18873	N	0.999986	P;P;P	0.46784	0.763;0.557;0.884	B;B;B	0.37144	0.242;0.178;0.23	T	0.24083	-1.0170	10	0.36615	T	0.2	.	14.576	0.68246	1.0:0.0:0.0:0.0	.	607;633;607	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	633;607;607	ENSP00000335463:S633G;ENSP00000382576:S607G	ENSP00000260369:S607G	S	+	1	0	CASC5	38701573	0.925000	0.31364	0.957000	0.39632	0.059000	0.15707	3.060000	0.49955	2.036000	0.60181	0.455000	0.32223	AGC	CASC5	-	NULL	ENSG00000137812		0.408	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0	37	0	A	NM_144508		40914281	1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.394	G	G	40914281	A	G	40914281	3	3	91	1	0	0	0	0	1	0	0	0	2670	72	3	4	1935	4	CASC5	15	40914281	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	355689	40914281	61617111	369	26442											
DNAJC17	55192	genome.wustl.edu	37	chr15	41068808	41068808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgggcctgggcctgccGctcccgggcctccaggtcta	2	8	13	18	2	1	0	0	0	1	0	4	0	4	0	7	4	1	1	7	4	1	1	rs148595451		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:41068808G>C	ENST00000220496.4	-	5	343	c.313C>G	c.(313-315)Cgg>Ggg	p.R105G		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	105					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGGGCCTGCCGCTCCCGGGCC	0.632																																																	0													85	84	84					15																	41068808		2203	4300	6503	SO:0001583	missense	0			AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"Heat shock proteins / DNAJ (HSP40)", "RNA binding motif (RRM) containing"	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.313C>G	15.37:g.41068808G>C	ENSP00000220496:p.Arg105Gly			Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.R105G	ENST00000220496.4	37	c.313	CCDS10065.1	15	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377703	0.42105	.	.	ENSG00000104129	ENST00000220496	T	0.23552	1.9	4.99	2.88	0.33553	.	0.183263	0.47852	D	0.000217	T	0.33118	0.0852	M	0.86740	2.835	0.58432	D	0.999996	P	0.34780	0.468	B	0.34038	0.174	T	0.35871	-0.9771	10	0.66056	D	0.02	.	10.2317	0.43258	0.0805:0.0:0.7267:0.1928	.	105	Q9NVM6	DJC17_HUMAN	G	105	ENSP00000220496:R105G	ENSP00000220496:R105G	R	-	1	2	DNAJC17	38856100	1.000000	0.71417	0.994000	0.49952	0.935000	0.57460	3.578000	0.53892	1.117000	0.41842	0.561000	0.74099	CGG	DNAJC17	-	NULL	ENSG00000104129		0.632	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC17	HGNC	protein_coding	OTTHUMT00000252356.2	-	0	27	0	G	NM_018163		41068808	-1	tier1	-	no_errors	ENST00000220496	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.988	C	C	41068808	G	C	41068808	3	2	91	1	0	0	0	0	1	0	0	0	4650	1086	38	5	629	5	DNAJC17	15	41068808	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	154527	41068808	61462584	370	26443											
MGA	23269	genome.wustl.edu	37	chr15	42003273	42003273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgtgattctaggagataAggttaccaagaattcttcag	13	13	9	6	0	4	3	2	1	2	2	4	4	4	3	1	2	1	1	1	2	5	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:42003273A>T	ENST00000570161.1	+	7	2810	c.2810A>T	c.(2809-2811)aAg>aTg	p.K937M	MGA_ENST00000389936.4_Missense_Mutation_p.K937M|MGA_ENST00000545763.1_Missense_Mutation_p.K937M|MGA_ENST00000219905.7_Missense_Mutation_p.K937M|MGA_ENST00000566586.1_Missense_Mutation_p.K937M			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTAGGAGATAAGGTTACCAAG	0.368																																																	0													141	140	140					15																	42003273		1895	4128	6023	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2810A>T	15.37:g.42003273A>T	ENSP00000457035:p.Lys937Met		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.K937M	ENST00000570161.1	37	c.2810	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	A	18.24	3.580018	0.65992	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.18657	2.2;2.2;2.2	5.84	4.7	0.59300	.	0.446931	0.23602	N	0.046429	T	0.22742	0.0549	L	0.27053	0.805	0.34948	D	0.751007	D;D	0.63046	0.963;0.992	P;P	0.53102	0.718;0.671	T	0.30822	-0.9965	10	0.87932	D	0	.	8.4658	0.32956	0.8458:0.0:0.1542:0.0	.	937;937	F5H7K2;E7ENI0	.;.	M	937	ENSP00000219905:K937M;ENSP00000374586:K937M;ENSP00000442467:K937M	ENSP00000219905:K937M	K	+	2	0	MGA	39790565	0.816000	0.29132	0.951000	0.38953	0.965000	0.64279	1.407000	0.34657	1.031000	0.39867	0.533000	0.62120	AAG	MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0	52	0	A	NM_001164273.1		42003273	1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.966	T	T	42003273	A	T	42003273	3	4	91	1	0	0	0	0	1	0	0	0	9578	72	3	5	2836	5	MGA	15	42003273	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	934465	42003273	60528119	371	26444											
SPTBN5	51332	genome.wustl.edu	37	chr15	42169048	42169048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaccagcttctcgccGtgtgcccgcagagcctctgc	5	9	10	17	3	3	2	0	1	3	1	4	2	3	2	4	0	5	2	4	0	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:42169048G>A	ENST00000320955.6	-	19	4037	c.3810C>T	c.(3808-3810)caC>caT	p.H1270H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1270					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTTCTCGCCGTGTGCCCGCA	0.667																																																	0													30	38	35					15																	42169048		2087	4208	6295	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3810C>T	15.37:g.42169048G>A				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H1270	ENST00000320955.6	37	c.3810		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0	44	0	G	NM_016642		42169048	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	silent	14.29	18	3	SNP	0.000	A	A	42169048	G	A	42169048	2	1	91	1	0	0	0	0	0	0	0	1	15169	1136	40	1		1	SPTBN5	15	42169048	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	165775	42169048	60362344	372	26445											
PLA2G4F	255189	genome.wustl.edu	37	chr15	42434796	42434796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgggggagcgggggtcCtcagccttggcaaacagata	11	6	15	9	1	1	1	1	0	0	1	2	2	2	2	2	5	3	1	2	5	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:42434796C>A	ENST00000382396.4	-	19	2345	c.2259G>T	c.(2257-2259)gaG>gaT	p.E753D	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E755D			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	753	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGCGGGGGTCCTCAGCCTTGG	0.622																																																	0													77	70	72					15																	42434796		2203	4299	6502	SO:0001583	missense	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2259G>T	15.37:g.42434796C>A	ENSP00000371833:p.Glu753Asp		Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.E755D	ENST00000382396.4	37	c.2265	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	2.705	-0.270189	0.05716	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.03860	3.78;3.78	4.88	-5.52	0.02560	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.803881	0.11226	N	0.586163	T	0.02119	0.0066	N	0.16368	0.405	0.09310	N	0.999997	B;B;B	0.10296	0.003;0.0;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.45716	-0.9242	10	0.18710	T	0.47	-4.3982	2.9045	0.05716	0.3481:0.2009:0.3278:0.1232	.	540;755;753	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	D	749;755;753;753	ENSP00000380442:E755D;ENSP00000371833:E753D	ENSP00000290497:E749D	E	-	3	2	PLA2G4F	40222088	0.003000	0.15002	0.052000	0.19188	0.303000	0.27691	-0.839000	0.04368	-0.874000	0.04027	-0.274000	0.10170	GAG	PLA2G4F	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168907		0.622	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	-	0	74	0	C	NM_213600		42434796	-1	tier1	-	no_errors	ENST00000397272	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.008	A	A	42434796	C	A	42434796	3	1	91	1	0	0	0	0	1	0	0	0	12045	680	24	3	298	3	PLA2G4F	15	42434796	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	265748	42434796	60096596	373	26446											
UBR1	197131	genome.wustl.edu	37	chr15	43307940	43307940	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatttctgatgtattgtcaTacatgagtttatgagtttca	10	18	8	5	0	3	3	2	3	1	0	3	3	3	3	0	0	1	4	0	0	3	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:43307940T>G	ENST00000290650.4	-	29	3233	c.3155A>C	c.(3154-3156)tAt>tCt	p.Y1052S	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1052					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATTGTCATACATGAGTTT	0.358																																																	0													186	181	183					15																	43307940		2203	4299	6502	SO:0001583	missense	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3155A>C	15.37:g.43307940T>G	ENSP00000290650:p.Tyr1052Ser		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.Y1052S	ENST00000290650.4	37	c.3155	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842319	0.91197	.	.	ENSG00000159459	ENST00000290650	T	0.44881	0.91	5.56	5.56	0.83823	.	0.119412	0.64402	D	0.000016	T	0.48537	0.1505	L	0.54323	1.7	0.80722	D	1	P;P	0.51240	0.843;0.943	B;P	0.52109	0.375;0.69	T	0.34775	-0.9815	10	0.12430	T	0.62	-18.8309	15.8606	0.79017	0.0:0.0:0.0:1.0	.	1052;1052	B4DYL2;Q8IWV7	.;UBR1_HUMAN	S	1052	ENSP00000290650:Y1052S	ENSP00000290650:Y1052S	Y	-	2	0	UBR1	41095232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.525000	0.81892	2.330000	0.79161	0.533000	0.62120	TAT	UBR1	-	NULL	ENSG00000159459		0.358	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	-	0	37	0	T	NM_174916		43307940	-1	tier1	-	no_errors	ENST00000290650	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	G	G	43307940	T	G	43307940	3	3	91	1	0	0	0	0	1	0	0	0	16950	1406	49	4	2170	4	UBR1	15	43307940	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	873144	43307940	59223452	374	26447											
USP50	9101	genome.wustl.edu	37	chr15	50793017	50793017	+	3'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtagtggccaccatcCaaatcaccaaaatggttcta	13	9	8	11	0	2	0	1	0	1	0	3	0	3	0	4	2	0	3	4	2	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:50793017C>T	ENST00000396444.3	+	0	5427				USP50_ENST00000530218.1_5'Flank|USP50_ENST00000532404.1_Silent_p.L318L|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000433963.1_3'UTR	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGCCACCATCCAAATCACCAA	0.418																																																	0													71	66	67					15																	50793017		1881	4107	5988	SO:0001624	3_prime_UTR_variant	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.*1732C>T	15.37:g.50793017C>T			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L318	ENST00000396444.3	37	c.954	CCDS10137.1	15																																																																																			USP50	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000170236		0.418	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP50	HGNC	protein_coding	OTTHUMT00000254541.1	-	0	27	0	C	NM_005154		50793017	-1	tier1	-	no_errors	ENST00000532404	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	T	T	50793017	C	T	50793017	1	4	91	0	1	0	0	0	0	0	0	0	17131	593	21	3		3	USP50	15	50793017	3'UTR	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	7485077	50793017	51738375	375	26448											
MYO5C	55930	genome.wustl.edu	37	chr15	52553245	52553245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagcttgtgacgattttgCgattgcacagccactgagca	10	10	11	10	2	0	3	0	2	0	1	0	5	0	3	1	0	5	3	1	0	0	4	rs199654190		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:52553245C>T	ENST00000261839.7	-	10	1288	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_Missense_Mutation_p.R319H	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	376	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GACGATTTTGCGATTGCACAG	0.537													C|||	1	0.000199681	0	0	5008	,	,		19207	0.001		0	False		,,,				2504	0																0													81	84	83					15																	52553245		2034	4198	6232	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"Myosins / Myosin superfamily : Class V"	7604	protein-coding gene	gene with protein product	"myosin 5C"	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1127G>A	15.37:g.52553245C>T	ENSP00000261839:p.Arg376His		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R376H	ENST00000261839.7	37	c.1127	CCDS42036.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.54	3.846316	0.71603	.	.	ENSG00000128833	ENST00000261839;ENST00000443683	D;D	0.89270	-2.49;-2.49	5.51	5.51	0.81932	Myosin head, motor domain (2);	0.119463	0.56097	D	0.000025	D	0.95436	0.8518	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95773	0.8810	10	0.87932	D	0	.	19.4119	0.94677	0.0:1.0:0.0:0.0	.	376	Q9NQX4	MYO5C_HUMAN	H	376;319	ENSP00000261839:R376H;ENSP00000410582:R319H	ENSP00000261839:R376H	R	-	2	0	MYO5C	50340537	1.000000	0.71417	0.436000	0.26797	0.024000	0.10985	7.818000	0.86416	2.609000	0.88269	0.655000	0.94253	CGC	MYO5C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000128833		0.537	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1		0	43	0	C	NM_018728		52553245	-1			no_errors	ENST00000261839	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	52553245	C	T	52553245	3	4	91	1	0	0	0	0	1	0	0	0	10118	768	27	1	4229	1	MYO5C	15	52553245	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1760228	52553245	49978147	376	26449											
BNIP2	663	genome.wustl.edu	37	chr15	59970119	59970119	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactcttacccccatggcTgataacttttttatagggtt	9	16	7	9	0	1	1	0	1	1	0	1	1	1	1	2	2	3	3	2	2	5	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:59970119T>A	ENST00000607373.1	-	5	665	c.463A>T	c.(463-465)Agc>Tgc	p.S155C	BNIP2_ENST00000415213.2_Missense_Mutation_p.S217C|BNIP2_ENST00000267859.3_Missense_Mutation_p.S276C	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	155	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCCCCATGGCTGATAACTTTT	0.363																																					Ovarian(174;1936 1978 6671 8240 38212)												0													131	130	131					15																	59970119		2190	4290	6480	SO:0001583	missense	0			U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"BCL2/adenovirus E1B 19kD-interacting protein 2"			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.463A>T	15.37:g.59970119T>A	ENSP00000475320:p.Ser155Cys		B4DS94	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S276C	ENST00000607373.1	37	c.826		15	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414570	0.83449	.	.	ENSG00000140299	ENST00000267859;ENST00000415213;ENST00000439052	D;D;D	0.84516	-1.86;-1.86;-1.86	5.68	5.68	0.88126	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.93867	0.7159	9	.	.	.	-18.3949	15.9837	0.80133	0.0:0.0:0.0:1.0	.	155;217	Q12982;Q12982-2	BNIP2_HUMAN;.	C	276;217;33	ENSP00000267859:S276C;ENSP00000412767:S217C;ENSP00000393644:S33C	.	S	-	1	0	BNIP2	57757411	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.654000	0.61469	2.186000	0.69663	0.529000	0.55759	AGC	BNIP2	-	pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000140299		0.363	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	BNIP2	HGNC	protein_coding	OTTHUMT00000470740.1	-	0	72	0	T	NM_004330		59970119	-1	tier1	-	no_errors	ENST00000267859	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	A	A	59970119	T	A	59970119	3	1	91	1	0	0	0	0	1	0	0	0	1479	1580	55	5	505	5	BNIP2	15	59970119	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	7416874	59970119	42561273	377	26450											
IGDCC4	57722	genome.wustl.edu	37	chr15	65676433	65676433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctggcagctatctccagGggtctcctctagcacctcgc	6	9	11	15	1	3	0	0	0	3	0	6	1	3	0	3	3	3	4	3	3	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:65676433G>A	ENST00000352385.2	-	20	3876	c.3667C>T	c.(3667-3669)Cct>Tct	p.P1223S	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTATCTCCAGGGGTCTCCTCT	0.657																																																	0													24	29	28					15																	65676433		2201	4298	6499	SO:0001583	missense	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3667C>T	15.37:g.65676433G>A	ENSP00000319623:p.Pro1223Ser		Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P1223S	ENST00000352385.2	37	c.3667	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	G	8.605	0.887808	0.17540	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58060	0.36	5.2	1.07	0.20283	.	0.340719	0.21657	N	0.071091	T	0.34077	0.0885	L	0.29908	0.895	0.24154	N	0.99569	B	0.06786	0.001	B	0.04013	0.001	T	0.20706	-1.0267	10	0.56958	D	0.05	-0.0693	4.5137	0.11924	0.1683:0.0:0.5261:0.3055	.	1223	Q8TDY8	IGDC4_HUMAN	S	1223;952	ENSP00000319623:P1223S	ENSP00000319623:P1223S	P	-	1	0	IGDCC4	63463486	1.000000	0.71417	0.963000	0.40424	0.004000	0.04260	0.901000	0.28445	0.229000	0.21039	-0.122000	0.15005	CCT	IGDCC4	-	NULL	ENSG00000103742		0.657	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0	121	0	G	NM_020962		65676433	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	missense	9.68	56	6	SNP	0.810	A	A	65676433	G	A	65676433	3	1	91	1	0	0	0	0	1	0	0	0	7596	1232	43	3	89	3	IGDCC4	15	65676433	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5706314	65676433	36854959	378	26451											
MYO9A	4649	genome.wustl.edu	37	chr15	72193556	72193556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataataacagatgcttgtctCagatggaggaaatgctgcct	13	11	10	7	0	1	2	1	0	1	2	2	4	1	4	1	2	4	2	1	2	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:72193556C>T	ENST00000356056.5	-	23	3598	c.3126G>A	c.(3124-3126)ctG>ctA	p.L1042L	MYO9A_ENST00000424560.1_Silent_p.L1042L|MYO9A_ENST00000564571.1_Silent_p.L1042L|MYO9A_ENST00000566885.1_Silent_p.L662L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.L1023L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1042	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGCTTGTCTCAGATGGAGGA	0.428																																																	0													119	98	105					15																	72193556		2199	4297	6496	SO:0001819	synonymous_variant	0			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"Myosins / Myosin superfamily : Class IX"	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3126G>A	15.37:g.72193556C>T			B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L1042	ENST00000356056.5	37	c.3126	CCDS10239.1	15																																																																																			MYO9A	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066933		0.428	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	-	0	36	0	C	NM_006901		72193556	-1	tier1	-	no_errors	ENST00000424560	ensembl	human	known	74_37	silent	15.00	17	3	SNP	1.000	T	T	72193556	C	T	72193556	2	4	91	1	0	0	0	0	0	0	0	1	10122	813	29	3		3	MYO9A	15	72193556	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	6517123	72193556	30337836	379	26452											
CSPG4	1464	genome.wustl.edu	37	chr15	75968663	75968663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcgccagcatctaggacgGtggggtccaggcgcagggtg	6	6	18	11	3	1	0	0	0	1	0	3	1	2	1	2	6	1	3	2	6	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:75968663G>T	ENST00000308508.5	-	10	6289	c.6197C>A	c.(6196-6198)aCc>aAc	p.T2066N	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2066	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATCTAGGACGGTGGGGTCCAG	0.692																																																	0													26	22	23					15																	75968663		2195	4293	6488	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.6197C>A	15.37:g.75968663G>T	ENSP00000312506:p.Thr2066Asn		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.T2066N	ENST00000308508.5	37	c.6197	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	G	0.630	-0.817430	0.02776	.	.	ENSG00000173546	ENST00000308508;ENST00000537176	T	0.17528	2.27	4.62	-1.57	0.08506	.	0.986339	0.08249	N	0.974934	T	0.11239	0.0274	L	0.31664	0.95	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.37337	-0.9710	10	0.30854	T	0.27	.	7.1277	0.25482	0.0869:0.5915:0.2095:0.112	.	2066	Q6UVK1	CSPG4_HUMAN	N	2066;98	ENSP00000312506:T2066N	ENSP00000312506:T2066N	T	-	2	0	CSPG4	73755718	0.034000	0.19679	0.000000	0.03702	0.061000	0.15899	2.145000	0.42207	-0.096000	0.12329	0.561000	0.74099	ACC	CSPG4	-	NULL	ENSG00000173546		0.692	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1		0	38	0	G	NM_001897		75968663	-1			no_errors	ENST00000308508	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.000	T	T	75968663	G	T	75968663	3	4	91	1	0	0	0	0	1	0	0	0	3969	1261	44	3	775	3	CSPG4	15	75968663	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3775107	75968663	26562729	380	26453											
SCAPER	49855	genome.wustl.edu	37	chr15	76696914	76696914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgcatgtaagagtcctgCggcatgctgcagaaatatgg	11	10	12	8	1	0	2	0	0	0	2	1	2	1	2	1	2	4	5	1	2	3	3	rs3743176	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:76696914C>G	ENST00000563290.1	-	27	3513	c.3418G>C	c.(3418-3420)Gca>Cca	p.A1140P	SCAPER_ENST00000324767.7_Missense_Mutation_p.A1140P|SCAPER_ENST00000538941.2_Missense_Mutation_p.A894P			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1140			A -> T (in dbSNP:rs3743176).			endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AAGAGTCCTGCGGCATGCTGC	0.478																																																	0													202	185	191					15																	76696914		2060	4199	6259	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3418G>C	15.37:g.76696914C>G	ENSP00000454973:p.Ala1140Pro		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.A1140P	ENST00000563290.1	37	c.3418	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	12.40	1.928139	0.34002	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.23754	1.89;1.89	5.96	-4.1	0.03940	.	0.439260	0.26058	N	0.026593	T	0.18257	0.0438	L	0.36672	1.1	0.09310	N	0.999999	B;P	0.37015	0.318;0.578	B;B	0.38562	0.107;0.276	T	0.19160	-1.0314	10	0.49607	T	0.09	.	12.3177	0.54966	0.0:0.3164:0.0:0.6836	.	1139;894	Q9BY12;F5H7X8	SCAPE_HUMAN;.	P	1140;894;1162	ENSP00000326924:A1140P;ENSP00000442190:A894P	ENSP00000303560:A1162P	A	-	1	0	SCAPER	74483969	0.032000	0.19561	0.001000	0.08648	0.573000	0.36030	-0.256000	0.08757	-0.502000	0.06596	-0.937000	0.02696	GCA	SCAPER	-	NULL	ENSG00000140386		0.478	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0	35	0	C	NM_020843		76696914	-1	tier1	-	no_errors	ENST00000324767	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.161	G	G	76696914	C	G	76696914	3	3	91	1	0	0	0	0	1	0	0	0	13923	768	27	5	808	5	SCAPER	15	76696914	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	728251	76696914	25834478	381	26454											
PSTPIP1	9051	genome.wustl.edu	37	chr15	77323585	77323585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccctgtgggtgcacagcaAccagctctccatgcagtgtg	7	8	12	14	1	1	0	0	0	1	0	2	0	1	0	3	1	5	4	3	1	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:77323585A>G	ENST00000558012.1	+	10	1196	c.707A>G	c.(706-708)aAc>aGc	p.N236S	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.N236S|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.N235S|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.N236S|PSTPIP1_ENST00000557995.1_3'UTR	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	236					cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GTGCACAGCAACCAGCTCTCC	0.617																																																	0													123	132	129					15																	77323585		2117	4240	6357	SO:0001583	missense	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"CD2 cytoplasmic tail-binding protein", "CD2 antigen-binding protein 1", "PEST phosphatase-interacting protein 1"	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.707A>G	15.37:g.77323585A>G	ENSP00000452746:p.Asn236Ser		B5BU74|B5BUK4|O43585|O95657	Missense_Mutation	SNP	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.N301S	ENST00000558012.1	37	c.902	CCDS45312.1	15	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503003	0.85176	.	.	ENSG00000140368	ENST00000379595;ENST00000267939	T;T	0.42513	0.97;2.58	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.88450	2.955	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.999;0.999	T	0.75584	-0.3267	10	0.72032	D	0.01	-6.2594	13.1558	0.59516	1.0:0.0:0.0:0.0	.	114;236;235;236	B4DQC0;O43586-2;C9K004;O43586	.;.;.;PPIP1_HUMAN	S	236;235	ENSP00000368914:N236S;ENSP00000267939:N235S	ENSP00000267939:N235S	N	+	2	0	PSTPIP1	75110640	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.159000	0.89651	1.756000	0.51951	0.379000	0.24179	AAC	PSTPIP1	-	NULL	ENSG00000140368		0.617	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	-	0	28	0	A	NM_003978		77323585	1	tier1	-	no_errors	ENST00000559785	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	G	G	77323585	A	G	77323585	3	3	91	1	0	0	0	0	1	0	0	0	12763	43	2	4	745	4	PSTPIP1	15	77323585	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	626671	77323585	25207807	382	26455											
ADAMTS7	11173	genome.wustl.edu	37	chr15	79056071	79056071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccccaccacccactgcgtGcaggggtgggtgttgcaggg	5	6	17	13	1	0	0	0	0	0	0	0	0	0	0	4	5	3	3	4	5	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:79056071G>A	ENST00000388820.4	-	22	4920	c.4710C>T	c.(4708-4710)tgC>tgT	p.C1570C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1570	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCCACTGCGTGCAGGGGTGGG	0.701																																																	0													9	11	11					15																	79056071		2056	4092	6148	SO:0001819	synonymous_variant	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"ADAM metallopeptidases with thrombospondin type 1 motif"	223	protein-coding gene	gene with protein product	"COMPase", "a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"	605009	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.4710C>T	15.37:g.79056071G>A			Q14F51|Q6P7J9	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.C1570	ENST00000388820.4	37	c.4710	CCDS32303.1	15																																																																																			ADAMTS7	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000136378		0.701	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	-	0	136	0	G	NM_014272		79056071	-1	tier1	-	no_errors	ENST00000388820	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.871	A	A	79056071	G	A	79056071	2	1	91	1	0	0	0	0	0	0	0	1	271	1311	46	3		3	ADAMTS7	15	79056071	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1732486	79056071	23475321	383	26456											
AGBL1	123624	genome.wustl.edu	37	chr15	87099468	87099468	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagtgtacacagaggctGttggagaggacaaagaatga	14	7	15	5	0	0	4	0	1	0	3	0	6	0	5	0	3	2	4	0	3	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:87099468G>T	ENST00000441037.2	+	21	2966	c.2871G>T	c.(2869-2871)ctG>ctT	p.L957L	AGBL1_ENST00000421325.2_Silent_p.L957L|AGBL1_ENST00000389298.3_Silent_p.L688L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	957					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CACAGAGGCTGTTGGAGAGGA	0.453																																																	0													69	70	69					15																	87099468		1872	4111	5983	SO:0001819	synonymous_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2871G>T	15.37:g.87099468G>T			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.L957	ENST00000441037.2	37	c.2871	CCDS58398.1	15																																																																																			AGBL1	-	NULL	ENSG00000166748		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	34	0	G	NM_152336		87099468	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	silent	22.50	31	9	SNP	0.018	T	T	87099468	G	T	87099468	2	4	91	1	0	0	0	0	0	0	0	1	375	1364	48	3		3	AGBL1	15	87099468	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8043397	87099468	15431924	384	26457											
ZNF710	374655	genome.wustl.edu	37	chr15	90611143	90611143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgagttcgaggctgacacGgcgggttcgaccgtggaacg	8	7	17	9	6	0	2	0	2	0	0	2	5	0	3	1	4	1	3	1	4	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:90611143G>A	ENST00000268154.4	+	2	1025	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGGCTGACACGGCGGGTTCGA	0.657																																																	0													37	45	42					15																	90611143		2198	4290	6488	SO:0001819	synonymous_variant	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.774G>A	15.37:g.90611143G>A			A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T258	ENST00000268154.4	37	c.774	CCDS10358.1	15																																																																																			ZNF710	-	NULL	ENSG00000140548		0.657	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1		0	80	0	G	NM_198526		90611143	1			no_errors	ENST00000268154	ensembl	human	known	74_37	silent	16.67	45	9	SNP	0.091	A	A	90611143	G	A	90611143	2	1	91	1	0	0	0	0	0	0	0	1	18163	1103	39	1		1	ZNF710	15	90611143	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	3511675	90611143	11920249	385	26458											
LRRK1	79705	genome.wustl.edu	37	chr15	101561287	101561287	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaatttccggccttcctaAgtgagtctttggaagtcctt	7	15	10	9	1	1	1	0	1	1	0	4	3	4	3	4	3	0	0	4	3	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr15:101561287A>T	ENST00000388948.3	+	13	1998	c.1639A>T	c.(1639-1641)Agt>Tgt	p.S547C	LRRK1_ENST00000284395.5_Missense_Mutation_p.S544C	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCCTTCCTAAGTGAGTCTTT	0.498																																																	0													108	104	105					15																	101561287		1933	4130	6063	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1639A>T	15.37:g.101561287A>T	ENSP00000373600:p.Ser547Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.S547C	ENST00000388948.3	37	c.1639	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555258	0.65425	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.23552	1.9;1.9	5.5	4.38	0.52667	.	0.122446	0.56097	D	0.000033	T	0.20740	0.0499	N	0.16098	0.37	0.35987	D	0.836456	D	0.59357	0.985	P	0.49999	0.628	T	0.17018	-1.0383	10	0.37606	T	0.19	.	10.4583	0.44563	0.9239:0.0:0.0761:0.0	.	547	Q38SD2	LRRK1_HUMAN	C	547;544	ENSP00000373600:S547C;ENSP00000284395:S544C	ENSP00000284395:S544C	S	+	1	0	LRRK1	99378810	0.999000	0.42202	0.422000	0.26621	0.889000	0.51656	4.190000	0.58365	0.921000	0.36994	0.454000	0.30748	AGT	LRRK1	-	NULL	ENSG00000154237		0.498	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	31	0	A	NM_024652		101561287	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.829	T	T	101561287	A	T	101561287	3	4	91	1	0	0	0	0	1	0	0	0	9067	72	3	5	1685	5	LRRK1	15	101561287	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	10950144	101561287	970105	386	26459											
TMEM8A	58986	genome.wustl.edu	37	chr16	427383	427383	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagcccccctcaccttcaActcgatcttctgggatgagg	7	9	10	15	1	4	1	2	1	2	0	5	3	4	2	4	3	2	1	4	3	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:427383A>T	ENST00000431232.2	-	3	662	c.502T>A	c.(502-504)Ttg>Atg	p.L168M	TMEM8A_ENST00000476735.1_5'UTR|TMEM8A_ENST00000250930.3_De_novo_Start_InFrame	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	168					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTCACCTTCAACTCGATCTTC	0.662											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													8	10	10					16																	427383		2133	4198	6331	SO:0001583	missense	0			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"transmembrane protein 6", "transmembrane protein 8 (five membrane-spanning domains)"	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.502T>A	16.37:g.427383A>T	ENSP00000401338:p.Leu168Met	588	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.L168M	ENST00000431232.2	37	c.502	CCDS10407.1	16	.	.	.	.	.	.	.	.	.	.	A	8.011	0.757509	0.15846	.	.	ENSG00000129925	ENST00000431232	T	0.22743	1.94	4.38	-1.16	0.09678	.	0.667652	0.13433	N	0.388296	T	0.09818	0.0241	N	0.22421	0.69	0.51233	D	0.999918	P	0.45283	0.855	B	0.35859	0.212	T	0.21895	-1.0232	10	0.54805	T	0.06	-3.4259	4.4806	0.11766	0.1518:0.4304:0.0:0.4178	.	168	Q9HCN3	TMM8A_HUMAN	M	168	ENSP00000401338:L168M	ENSP00000401338:L168M	L	-	1	2	TMEM8A	367384	0.224000	0.23674	0.792000	0.32020	0.012000	0.07955	0.286000	0.18902	-0.382000	0.07870	-1.304000	0.01323	TTG	TMEM8A	-	NULL	ENSG00000129925		0.662	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	-	0	47	0	A	NM_021259		427383	-1	tier1	-	no_errors	ENST00000431232	ensembl	human	known	74_37	missense	18.52	22	5	SNP	0.432	T	T	427383	A	T	427383	3	4	91	1	0	0	0	0	1	0	0	0	16261	40	2	5	1857	5	TMEM8A	16	427383	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09		427383	89927370	387	26460											
NTHL1	7249	genome.wustl.edu	37	chr16	2094744	2094744	+	5'Flank	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcatggcgcccgccgtcaCctggtctttggtttggctgg	2	12	14	13	3	2	0	1	0	1	0	2	0	2	0	3	5	1	3	3	5	0	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:2094744C>A	ENST00000219476.3	+	0	0				NTHL1_ENST00000562951.1_5'Flank|NTHL1_ENST00000219066.1_Missense_Mutation_p.V146L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2						acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCGCCGTCACCTGGTCTTTG	0.657			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													39	31	34					16																	2094744		2196	4299	6495	SO:0001631	upstream_gene_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745		16.37:g.2094744C>A	Exception_encountered		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.V146L	ENST00000219476.3	37	c.436	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083508	0.55861	.	.	ENSG00000065057	ENST00000219066	D	0.86432	-2.12	5.44	5.44	0.79542	HhH-GPD domain (2);DNA glycosylase (2);	0.000000	0.85682	D	0.000000	D	0.88566	0.6471	M	0.64676	1.99	0.80722	D	1	P;P	0.40909	0.732;0.732	B;B	0.44278	0.445;0.445	D	0.89142	0.3517	10	0.56958	D	0.05	-26.4183	18.2317	0.89937	0.0:1.0:0.0:0.0	.	146;146	E5KTI5;P78549	.;NTHL1_HUMAN	L	146	ENSP00000219066:V146L	ENSP00000219066:V146L	V	-	1	0	NTHL1	2034745	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.505000	0.66981	2.561000	0.86390	0.561000	0.74099	GTG	NTHL1	-	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain	ENSG00000065057		0.657	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTHL1	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	105	0	C	NM_000548		2094744	-1	tier1	-	no_errors	ENST00000219066	ensembl	human	known	74_37	missense	10.20	88	10	SNP	1.000	A	A	2094744	C	A	2094744	1	1	91	0	1	0	0	0	0	0	0	0	10737	507	18	3		3	NTHL1	16	2094744	5'Flank	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1667361	2094744	88260009	388	26461											
TSC2	7249	genome.wustl.edu	37	chr16	2130299	2130299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcacccgggttcctgtGcaggagaagacgaacctggc	8	6	15	12	2	0	2	0	0	0	2	1	4	1	2	3	4	2	4	3	4	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:2130299G>A	ENST00000219476.3	+	30	4161	c.3531G>A	c.(3529-3531)gtG>gtA	p.V1177V	TSC2_ENST00000382538.6_Silent_p.V1085V|TSC2_ENST00000568454.1_Silent_p.V1144V|TSC2_ENST00000353929.4_Silent_p.V1134V|TSC2_ENST00000401874.2_Silent_p.V1133V|TSC2_ENST00000350773.4_Silent_p.V1177V|TSC2_ENST00000439673.2_Silent_p.V1097V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1177					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGGTTCCTGTGCAGGAGAAGA	0.682			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	0													59	66	64					16																	2130299		2198	4297	6495	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3531G>A	16.37:g.2130299G>A			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.V1177	ENST00000219476.3	37	c.3531	CCDS10458.1	16																																																																																			TSC2	-	NULL	ENSG00000103197		0.682	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0	66	0	G	NM_000548		2130299	1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	silent	23.81	48	15	SNP	0.000	A	A	2130299	G	A	2130299	2	1	91	1	0	0	0	0	0	0	0	1	16654	1306	46	3		3	TSC2	16	2130299	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	35555	2130299	88224454	389	26462											
GRIN2A	2903	genome.wustl.edu	37	chr16	9858292	9858292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcctattctctgctgttgCctcatccctctgggagactg	4	14	10	13	0	3	1	1	0	2	1	6	2	5	1	3	2	2	2	3	2	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:9858292C>T	ENST00000396573.2	-	14	3418	c.3109G>A	c.(3109-3111)Gca>Aca	p.A1037T	GRIN2A_ENST00000535259.1_Missense_Mutation_p.A880T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1037T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1037T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A1037T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A1037T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1037					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTGCTGTTGCCTCATCCCTC	0.522																																																	0													134	141	139					16																	9858292		2197	4300	6497	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3109G>A	16.37:g.9858292C>T	ENSP00000379818:p.Ala1037Thr		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A1037T	ENST00000396573.2	37	c.3109	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	C	2.843	-0.239970	0.05944	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11385	2.79;2.78;2.78;2.79;2.79	5.33	4.37	0.52481	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.889974	0.10160	N	0.708463	T	0.08626	0.0214	N	0.19112	0.55	0.21256	N	0.999746	B;B;B	0.27166	0.052;0.17;0.049	B;B;B	0.27380	0.047;0.079;0.045	T	0.38001	-0.9681	9	.	.	.	.	12.1969	0.54303	0.0:0.9167:0.0:0.0833	.	880;1037;1037	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	1037;1037;880;1037;1037	ENSP00000379818:A1037T;ENSP00000385872:A1037T;ENSP00000441572:A880T;ENSP00000332549:A1037T;ENSP00000379820:A1037T	.	A	-	1	0	GRIN2A	9765793	0.003000	0.15002	0.093000	0.20910	0.323000	0.28346	0.690000	0.25451	1.216000	0.43427	0.655000	0.94253	GCA	GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.522	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3		0	30	0	C			9858292	-1			no_errors	ENST00000330684	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.948	T	T	9858292	C	T	9858292	3	4	91	1	0	0	0	0	1	0	0	0	6806	739	26	3	1289	3	GRIN2A	16	9858292	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	7727993	9858292	80496461	390	26463											
SMG1	23049	genome.wustl.edu	37	chr16	18856783	18856783	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatccagctgctcccaggctTtgcagggttcaatggagtct	8	11	11	11	0	2	0	1	0	1	0	4	1	4	1	2	3	3	5	2	3	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:18856783T>A	ENST00000446231.2	-	39	6599	c.6187A>T	c.(6187-6189)Aag>Tag	p.K2063*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.K2063*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2063					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCCCAGGCTTTGCAGGGTTC	0.428																																																	0													73	68	70					16																	18856783		1864	4100	5964	SO:0001587	stop_gained	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6187A>T	16.37:g.18856783T>A	ENSP00000402515:p.Lys2063*		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.K2063*	ENST00000446231.2	37	c.6187	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	T	50	16.143936	0.99855	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1343	0.81471	0.0:0.0:0.0:1.0	.	.	.	.	X	2063	.	ENSP00000374118:K2063X	K	-	1	0	SMG1	18764284	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.008000	0.88588	2.209000	0.71365	0.533000	0.62120	AAG	SMG1	-	superfamily_Kinase-like_dom,superfamily_ARM-type_fold	ENSG00000157106		0.428	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0	68	0	T	NM_015092		18856783	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	nonsense	11.11	40	5	SNP	1.000	A	A	18856783	T	A	18856783	4	1	91	1	0	0	0	0	0	1	0	0	14840	1850	64	5	4898	5	SMG1	16	18856783	Nonsense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	8998491	18856783	71497970	391	26464											
DNAH3	55567	genome.wustl.edu	37	chr16	20952734	20952734	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccacctgttgaatctGatgagctcctgccttaggac	7	11	10	13	0	1	3	0	3	1	0	2	4	2	4	4	2	2	2	4	2	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:20952734G>T	ENST00000261383.3	-	59	11642	c.11643C>A	c.(11641-11643)atC>atA	p.I3881I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3881					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTTGAATCTGATGAGCTCCT	0.498																																																	0													347	336	340					16																	20952734		2201	4300	6501	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11643C>A	16.37:g.20952734G>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.I3881	ENST00000261383.3	37	c.11643	CCDS10594.1	16																																																																																			DNAH3	-	pfam_Dynein_heavy_dom	ENSG00000158486		0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0	40	0	G	NM_017539		20952734	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T	T	20952734	G	T	20952734	2	4	91	1	0	0	0	0	0	0	0	1	4617	1280	45	3		3	DNAH3	16	20952734	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2095951	20952734	69402019	392	26465											
DNAH3	55567	genome.wustl.edu	37	chr16	21145766	21145766	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccattgggtccatgaggAtgtaatcaactacaaccgga	12	10	9	10	1	2	1	1	1	1	0	4	3	3	3	3	3	3	1	3	3	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:21145766A>T	ENST00000261383.3	-	7	895	c.896T>A	c.(895-897)aTc>aAc	p.I299N	DNAH3_ENST00000415178.1_Missense_Mutation_p.I299N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	299	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTCCATGAGGATGTAATCAAC	0.458																																																	0													64	61	62					16																	21145766		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.896T>A	16.37:g.21145766A>T	ENSP00000261383:p.Ile299Asn		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.I299N	ENST00000261383.3	37	c.896	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147050	0.77888	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.28895	1.59;1.69	5.85	5.85	0.93711	.	0.140764	0.47852	D	0.000205	T	0.54498	0.1862	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.89917	0.991;1.0	P;D	0.83275	0.861;0.996	T	0.55573	-0.8120	10	0.56958	D	0.05	.	15.2181	0.73285	1.0:0.0:0.0:0.0	.	299;270	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	N	299;299;270	ENSP00000261383:I299N;ENSP00000394245:I299N	ENSP00000261383:I299N	I	-	2	0	DNAH3	21053267	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	6.967000	0.76079	2.238000	0.73509	0.533000	0.62120	ATC	DNAH3	-	NULL	ENSG00000158486		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1		0	25	0	A	NM_017539		21145766	-1			no_errors	ENST00000261383	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	21145766	A	T	21145766	3	4	91	1	0	0	0	0	1	0	0	0	4617	333	12	5	11677	5	DNAH3	16	21145766	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	193032	21145766	69208987	393	26466											
TUFM	25970	genome.wustl.edu	37	chr16	28857357	28857357	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggccaggccgcggcacaaGagaggcaatgccggggcttt	9	4	16	12	4	0	1	0	0	0	1	0	2	0	1	3	6	1	3	3	6	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:28857357G>A	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Silent_p.L41L			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CGCGGCACAAGAGAGGCAATG	0.647																																																	0													40	39	40					16																	28857357		2197	4300	6497	SO:0001631	upstream_gene_variant	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	30417	protein-coding gene	gene with protein product	"SH2-B homolog"	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28857357G>A	Exception_encountered		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.L41	ENST00000322610.8	37	c.123	CCDS53996.1	16																																																																																			TUFM	-	NULL	ENSG00000178952		0.647	SH2B1-001	KNOWN	basic|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000432666.1	-	0	79	0	G	NM_015503		28857357	-1	tier1	-	no_errors	ENST00000313511	ensembl	human	known	74_37	silent	12.50	49	7	SNP	0.002	A	A	28857357	G	A	28857357	1	1	91	0	1	0	0	0	0	0	0	0	16820	929	33	3		3	TUFM	16	28857357	5'Flank	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	7711591	28857357	61497396	394	26467											
ATP2A1	487	genome.wustl.edu	37	chr16	28909674	28909674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggagtggggcactggcCgggacaccctgcgctgcttg	6	7	16	12	2	1	0	1	0	0	0	1	2	1	2	2	5	2	3	2	5	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:28909674C>T	ENST00000357084.3	+	14	1933	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R556W|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R431W	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	556					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGGCACTGGCCGGGACACCCT	0.637																																																	0													46	52	50					16																	28909674		2197	4300	6497	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"ATPases / P-type"	811	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 1", "calcium pump 1"	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1666C>T	16.37:g.28909674C>T	ENSP00000349595:p.Arg556Trp		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.R556W	ENST00000357084.3	37	c.1666	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571104	0.86542	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.83335	-1.71;-1.71;-1.71	5.43	4.47	0.54385	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.055698	0.64402	D	0.000001	D	0.90352	0.6981	M	0.91406	3.205	0.52099	D	0.999946	D;P;D	0.63880	0.993;0.936;0.985	P;P;P	0.55749	0.596;0.783;0.676	D	0.91908	0.5537	10	0.87932	D	0	.	12.4065	0.55443	0.3051:0.6949:0.0:0.0	.	431;556;556	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	W	556;556;593;431	ENSP00000349595:R556W;ENSP00000378879:R556W;ENSP00000443101:R431W	ENSP00000349595:R556W	R	+	1	2	ATP2A1	28817175	0.913000	0.31002	1.000000	0.80357	0.996000	0.88848	0.771000	0.26633	1.266000	0.44231	0.655000	0.94253	CGG	ATP2A1	-	superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA	ENSG00000196296		0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2		0	75	0	C	NM_004320		28909674	1			no_errors	ENST00000357084	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	28909674	C	T	28909674	3	4	91	1	0	0	0	0	1	0	0	0	1137	643	23	1	1720	1	ATP2A1	16	28909674	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	52317	28909674	61445079	395	26468											
PRRT2	112476	genome.wustl.edu	37	chr16	29825222	29825222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgccccatgtggcctGtcaacatcgtggccttcgct	4	12	10	15	2	2	0	1	0	1	0	4	0	2	0	4	2	2	2	4	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:29825222G>A	ENST00000358758.7	+	2	1130	c.847G>A	c.(847-849)Gtc>Atc	p.V283I	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.V283I|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000300797.6_Missense_Mutation_p.V283I	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	283					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CATGTGGCCTGTCAACATCGT	0.622																																																	0													102	95	97					16																	29825222		2197	4300	6497	SO:0001583	missense	0			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"Proline-rich transmembrane proteins"	30500	protein-coding gene	gene with protein product	"interferon induced transmembrane protein domain containing 1"	614386	"infantile convulsions and paroxysmal choreoathetosis"	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.847G>A	16.37:g.29825222G>A	ENSP00000351608:p.Val283Ile		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.V283I	ENST00000358758.7	37	c.847	CCDS10654.1	16	.	.	.	.	.	.	.	.	.	.	G	3.369	-0.128911	0.06753	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	D;D	0.85861	-2.04;-2.04	4.33	2.3	0.28687	.	0.324920	0.30547	N	0.009381	T	0.67382	0.2887	N	0.02985	-0.445	0.30554	N	0.765138	P;P;P	0.46142	0.873;0.573;0.518	P;B;B	0.46452	0.517;0.429;0.303	T	0.66101	-0.6007	10	0.22706	T	0.39	-13.1015	7.1641	0.25681	0.0994:0.1774:0.7232:0.0	.	283;283;283	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	I	283	ENSP00000351608:V283I;ENSP00000300797:V283I	ENSP00000300797:V283I	V	+	1	0	PRRT2	29732723	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	2.599000	0.46231	0.939000	0.37446	-0.182000	0.12963	GTC	PRRT2	-	pfam_CD225/Dispanin_fam	ENSG00000167371		0.622	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	HGNC	protein_coding	OTTHUMT00000255161.3	-	0	38	0	G	NM_145239		29825222	1	tier1	-	no_errors	ENST00000567659	ensembl	human	known	74_37	missense	25.00	11	4	SNP	1.000	A	A	29825222	G	A	29825222	3	1	91	1	0	0	0	0	1	0	0	0	12652	1377	48	3	849	3	PRRT2	16	29825222	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	915548	29825222	60529531	396	26469											
RNF40	9810	genome.wustl.edu	37	chr16	30777483	30777483	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcctcccactccttaGtttgagatgctgaatgcaga	8	11	9	13	0	0	3	0	2	0	2	2	4	2	3	4	0	3	3	4	0	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:30777483G>C	ENST00000324685.6	+	9	1428		c.e9-1		RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Intron|RNF40_ENST00000357890.5_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase						histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCACTCCTTAGTTTGAGATGC	0.602																																																	0													59	62	61					16																	30777483		2197	4300	6497	SO:0001630	splice_region_variant	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"RING-type (C3HC4) zinc fingers"	16867	protein-coding gene	gene with protein product	"BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"	607700	"ring finger protein 40"			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.994-1G>C	16.37:g.30777483G>C			Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Splice_Site	SNP	-	e8-1	ENST00000324685.6	37	c.994-1	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	17.73	3.462078	0.63513	.	.	ENSG00000103549	ENST00000324685;ENST00000452273	.	.	.	5.8	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9314	0.70916	0.0:0.0:0.8555:0.1445	.	.	.	.	.	-1	.	.	.	+	.	.	RNF40	30684984	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	8.988000	0.93501	1.416000	0.47057	0.462000	0.41574	.	RNF40	-	-	ENSG00000103549		0.602	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2		0	34	0	G	NM_014771	Intron	30777483	1			no_errors	ENST00000324685	ensembl	human	known	74_37	splice_site	9.09	20	2	SNP	1.000	C	C	30777483	G	C	30777483	5	2	91	1	0	0	0	0	0	0	1	0	13538	1043	36	5	1023	5	RNF40	16	30777483	Splice_Site	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	952261	30777483	59577270	397	26470											
PRSS36	146547	genome.wustl.edu	37	chr16	31151676	31151676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggttccagggggcaggatgCcctgatagaggcagtcacag	9	6	17	9	0	1	2	1	1	0	1	2	3	2	3	2	5	1	3	2	5	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:31151676C>T	ENST00000268281.4	-	14	2286	c.2228G>A	c.(2227-2229)gGc>gAc	p.G743D	PRSS36_ENST00000569305.1_Missense_Mutation_p.G738D|PRSS36_ENST00000418068.2_Intron	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	743	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGGCAGGATGCCCTGATAGAG	0.602																																																	0													86	83	84					16																	31151676		2197	4300	6497	SO:0001583	missense	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"Serine peptidases / Serine peptidases"	26906	protein-coding gene	gene with protein product	"polyserase 2"	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2228G>A	16.37:g.31151676C>T	ENSP00000268281:p.Gly743Asp		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.G743D	ENST00000268281.4	37	c.2228	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	C	10.44	1.349867	0.24426	.	.	ENSG00000178226	ENST00000268281	D	0.89270	-2.49	4.74	4.74	0.60224	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90079	0.6901	M	0.62723	1.935	0.30878	N	0.731706	D;D	0.56968	0.978;0.978	P;P	0.54372	0.75;0.75	D	0.85795	0.1370	9	0.12430	T	0.62	.	13.581	0.61903	0.0:1.0:0.0:0.0	.	738;743	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	D	743	ENSP00000268281:G743D	ENSP00000268281:G743D	G	-	2	0	PRSS36	31059177	0.926000	0.31397	0.877000	0.34402	0.052000	0.14988	2.463000	0.45058	2.339000	0.79563	0.555000	0.69702	GGC	PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.602	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	-	0	43	0	C	NM_173502		31151676	-1	tier1	-	no_errors	ENST00000268281	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.981	T	T	31151676	C	T	31151676	3	4	91	1	0	0	0	0	1	0	0	0	12667	739	26	3	347	3	PRSS36	16	31151676	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	374193	31151676	59203077	398	26471											
VPS35	55737	genome.wustl.edu	37	chr16	46717491	46717491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccaagagcttttcctgctCatcctgaggggactgctgtg	7	12	11	11	0	1	2	1	1	0	1	4	3	4	3	3	2	3	3	3	2	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:46717491C>G	ENST00000299138.7	-	2	89	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	11					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TTTTCCTGCTCATCCTGAGGG	0.438																																																	0													76	62	67					16																	46717491		2203	4297	6500	SO:0001583	missense	0			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"Parkinson disease"	13487	protein-coding gene	gene with protein product		601501	"vacuolar protein sorting 35 (yeast homolog)", "vacuolar protein sorting 35 (yeast)"			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.31G>C	16.37:g.46717491C>G	ENSP00000299138:p.Glu11Gln		Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	pfam_VPS35,superfamily_ARM-type_fold	p.E11Q	ENST00000299138.7	37	c.31	CCDS10721.1	16	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062700	0.76187	.	.	ENSG00000069329	ENST00000299138	T	0.42900	0.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.71036	2.16	0.80722	D	1	P	0.36599	0.56	B	0.37422	0.249	T	0.55270	-0.8167	10	0.72032	D	0.01	-23.0696	19.5794	0.95459	0.0:1.0:0.0:0.0	.	11	Q96QK1	VPS35_HUMAN	Q	11	ENSP00000299138:E11Q	ENSP00000299138:E11Q	E	-	1	0	VPS35	45274992	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.752000	0.85141	2.704000	0.92352	0.557000	0.71058	GAG	VPS35	-	NULL	ENSG00000069329		0.438	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	HGNC	protein_coding	OTTHUMT00000255742.3		0	49	0	C			46717491	-1			no_errors	ENST00000299138	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	G	G	46717491	C	G	46717491	3	3	91	1	0	0	0	0	1	0	0	0	17252	835	29	5	2423	5	VPS35	16	46717491	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	15565815	46717491	43637262	399	26472											
CENPT	80152	genome.wustl.edu	37	chr16	67866141	67866141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcacttaccagttagtagGatgttcttcagcagcgtccg	8	12	10	11	2	3	0	2	0	1	0	4	1	4	1	2	1	3	5	2	1	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:67866141G>A	ENST00000562787.1	-	6	827	c.279C>T	c.(277-279)atC>atT	p.I93I	CENPT_ENST00000445712.2_Intron|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Silent_p.I93I|CENPT_ENST00000564817.1_Silent_p.I93I|CENPT_ENST00000219172.3_Silent_p.I93I	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	93	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CAGTTAGTAGGATGTTCTTCA	0.537																																																	0													62	66	65					16																	67866141		2074	4202	6276	SO:0001819	synonymous_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"chromosome 16 open reading frame 56"	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.279C>T	16.37:g.67866141G>A			Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	superfamily_Histone-fold	p.I93	ENST00000562787.1	37	c.279	CCDS42182.1	16																																																																																			CENPT	-	NULL	ENSG00000102901		0.537	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1		0	34	0	G	NM_025082		67866141	-1			no_errors	ENST00000219172	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.989	A	A	67866141	G	A	67866141	2	1	91	1	0	0	0	0	0	0	0	1	3249	1164	41	3		3	CENPT	16	67866141	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	21148650	67866141	22488612	400	26473											
SF3B3	23450	genome.wustl.edu	37	chr16	70599151	70599151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactggaccttgtccagctgGaacagaatgaggcagctttt	10	10	11	10	0	0	2	0	1	0	1	1	4	1	4	2	3	3	3	2	3	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:70599151G>C	ENST00000302516.5	+	19	2858	c.2647G>C	c.(2647-2649)Gaa>Caa	p.E883Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	883					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGTCCAGCTGGAACAGAATGA	0.532																																																	0													79	78	78					16																	70599151		2198	4300	6498	SO:0001583	missense	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2647G>C	16.37:g.70599151G>C	ENSP00000305790:p.Glu883Gln		Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.E883Q	ENST00000302516.5	37	c.2647	CCDS10894.1	16	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751758	0.89753	.	.	ENSG00000189091	ENST00000302516	T	0.47869	0.83	5.96	5.96	0.96718	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48114	0.1482	L	0.46614	1.455	0.80722	D	1	B	0.24721	0.11	B	0.32211	0.142	T	0.30650	-0.9971	10	0.21540	T	0.41	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	883	Q15393	SF3B3_HUMAN	Q	883	ENSP00000305790:E883Q	ENSP00000305790:E883Q	E	+	1	0	SF3B3	69156652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.789000	0.99068	2.832000	0.97577	0.655000	0.94253	GAA	SF3B3	-	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	ENSG00000189091		0.532	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	-	0	54	0	G	NM_012426		70599151	1	tier1	-	no_errors	ENST00000302516	ensembl	human	known	74_37	missense	12.50	21	3	SNP	1.000	C	C	70599151	G	C	70599151	3	2	91	1	0	0	0	0	1	0	0	0	14197	1175	41	5	2717	5	SF3B3	16	70599151	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2733010	70599151	19755602	401	26474											
MTSS1L	92154	genome.wustl.edu	37	chr16	70714902	70714902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttcgtggccttggagttGaagtcctcccagatagggta	8	11	13	9	1	0	2	0	1	0	1	3	3	2	3	3	3	1	3	3	3	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:70714902G>C	ENST00000338779.6	-	2	370	c.96C>G	c.(94-96)ttC>ttG	p.F32L		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	32	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CCTTGGAGTTGAAGTCCTCCC	0.662																																																	0													68	74	72					16																	70714902		2196	4296	6492	SO:0001583	missense	0				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"actin-bundling protein with BAIAP2 homology"					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.96C>G	16.37:g.70714902G>C	ENSP00000341171:p.Phe32Leu		A6NJI7|Q9BUA8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD	p.F32L	ENST00000338779.6	37	c.96	CCDS32476.1	16	.	.	.	.	.	.	.	.	.	.	g	24.1	4.490588	0.84962	.	.	ENSG00000132613	ENST00000254951;ENST00000338779	T	0.31510	1.49	4.79	3.83	0.44106	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	M	0.64080	1.96	0.43959	D	0.996637	D	0.89917	1.0	D	0.77004	0.989	T	0.48768	-0.9006	10	0.02654	T	1	-28.2502	8.9077	0.35535	0.1676:0.0:0.8324:0.0	.	32	Q765P7	MTSSL_HUMAN	L	32	ENSP00000341171:F32L	ENSP00000254951:F32L	F	-	3	2	MTSS1L	69272403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.064000	0.71169	2.191000	0.70037	0.457000	0.33378	TTC	MTSS1L	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000132613		0.662	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1L	HGNC	protein_coding	OTTHUMT00000434927.3	-	0	96	0	G	NM_138383		70714902	-1	tier1	-	no_errors	ENST00000338779	ensembl	human	known	74_37	missense	16.22	31	6	SNP	1.000	C	C	70714902	G	C	70714902	3	2	91	1	0	0	0	0	1	0	0	0	10001	1281	45	5	2203	5	MTSS1L	16	70714902	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	115751	70714902	19639851	402	26475											
C16orf46	123775	genome.wustl.edu	37	chr16	81097407	81097407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttttcatcttgttcaaGcgtaatgtcactgacatcga	9	15	8	9	2	4	1	3	1	1	0	5	2	4	1	0	1	1	3	0	1	2	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:81097407G>A	ENST00000299578.5	-	3	389	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	C16orf46_ENST00000378611.4_Missense_Mutation_p.L52F|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_Intron	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	52						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCTTGTTCAAGCGTAATGTCA	0.383																																																	0													188	175	179					16																	81097407		2202	4300	6502	SO:0001583	missense	0			BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.154C>T	16.37:g.81097407G>A	ENSP00000299578:p.Leu52Phe		Q96MA7	Missense_Mutation	SNP	NULL	p.L52F	ENST00000299578.5	37	c.154	CCDS10932.1	16	.	.	.	.	.	.	.	.	.	.	G	6.827	0.521660	0.13005	.	.	ENSG00000166455	ENST00000378611;ENST00000299578	T;T	0.19394	2.15;2.15	5.65	3.71	0.42584	.	0.222293	0.32028	N	0.006694	T	0.14614	0.0353	L	0.34521	1.04	0.09310	N	1	B;B	0.24186	0.099;0.099	B;B	0.25884	0.064;0.064	T	0.18053	-1.0349	10	0.49607	T	0.09	.	5.6884	0.17815	0.1627:0.0:0.6811:0.1563	.	52;52	Q6P387-2;Q6P387	.;CP046_HUMAN	F	52	ENSP00000367874:L52F;ENSP00000299578:L52F	ENSP00000299578:L52F	L	-	1	0	C16orf46	79654908	0.003000	0.15002	0.004000	0.12327	0.066000	0.16364	0.679000	0.25291	0.869000	0.35703	-0.251000	0.11542	CTT	C16orf46	-	NULL	ENSG00000166455		0.383	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C16orf46	HGNC	protein_coding	OTTHUMT00000269054.2		0	70	0	G	NM_152337		81097407	-1			no_errors	ENST00000299578	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.008	A	A	81097407	G	A	81097407	3	1	91	1	0	0	0	0	1	0	0	0	1820	971	34	3	1069	3	C16orf46	16	81097407	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	10382505	81097407	9257346	403	26476											
PLCG2	5336	genome.wustl.edu	37	chr16	81819602	81819602	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcggccgacaatgtccaCcacggtcaatgtagattccc	10	7	11	13	3	1	1	1	0	0	1	3	3	3	2	4	3	1	1	4	3	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:81819602C>G	ENST00000359376.3	+	2	222	c.8C>G	c.(7-9)aCc>aGc	p.T3S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	3					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACAATGTCCACCACGGTCAAT	0.507																																																	0													75	78	78					16																	81819602		1929	4128	6057	SO:0001583	missense	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"SH2 domain containing"	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.8C>G	16.37:g.81819602C>G	ENSP00000352336:p.Thr3Ser		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain	p.T3S	ENST00000359376.3	37	c.8	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	C	1.169	-0.641570	0.03531	.	.	ENSG00000197943	ENST00000359376	T	0.65732	-0.17	5.14	5.14	0.70334	Pleckstrin homology domain (1);	0.988640	0.08249	N	0.974951	T	0.39682	0.1087	N	0.08118	0	0.21861	N	0.999504	B	0.13594	0.008	B	0.12156	0.007	T	0.12041	-1.0563	10	0.02654	T	1	.	11.2608	0.49083	0.1824:0.8176:0.0:0.0	.	3	P16885	PLCG2_HUMAN	S	3	ENSP00000352336:T3S	ENSP00000352336:T3S	T	+	2	0	PLCG2	80377103	0.004000	0.15560	0.763000	0.31416	0.251000	0.25915	0.739000	0.26173	2.388000	0.81334	0.655000	0.94253	ACC	PLCG2	-	pirsf_PLC-gamma,pfscan_Pleckstrin_homology	ENSG00000197943		0.507	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	-	0	38	0	C			81819602	1	tier1	-	no_errors	ENST00000359376	ensembl	human	known	74_37	missense	19.05	17	4	SNP	0.700	G	G	81819602	C	G	81819602	3	3	91	1	0	0	0	0	1	0	0	0	12075	507	18	5	10	5	PLCG2	16	81819602	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	722195	81819602	8535151	404	26477											
OSGIN1	29948	genome.wustl.edu	37	chr16	83999150	83999150	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggacgaccctggcctGgtgttcaaccagctgcccaa	7	7	12	15	2	1	0	1	0	0	0	1	2	1	1	5	3	3	2	5	3	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr16:83999150G>T	ENST00000343939.2	+	7	1604	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L	OSGIN1_ENST00000361711.3_Silent_p.L324L|OSGIN1_ENST00000393306.1_Silent_p.L324L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	407					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						ACCCTGGCCTGGTGTTCAACC	0.652																																																	0													52	48	49					16																	83999150		2200	4299	6499	SO:0001819	synonymous_variant	0			AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"bone marrow stromal cell-derived growth inhibitor", "pregnancy induced growth inhibitor"	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.1221G>T	16.37:g.83999150G>T			Q52M33|Q86UQ1|Q96S88|Q9BZ70	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.L324	ENST00000343939.2	37	c.972		16																																																																																			OSGIN1	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	ENSG00000140961		0.652	OSGIN1-001	PUTATIVE	basic	protein_coding	OSGIN1	HGNC	protein_coding	OTTHUMT00000269081.1		0	21	0	G	NM_013370		83999150	1			no_errors	ENST00000361711	ensembl	human	known	74_37	silent	11.76	15	2	SNP	1.000	T	T	83999150	G	T	83999150	2	4	91	1	0	0	0	0	0	0	0	1	11328	1335	47	3		3	OSGIN1	16	83999150	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2179548	83999150	6355603	405	26478											
PRPF8	10594	genome.wustl.edu	37	chr17	1564934	1564934	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaatggcctcttgcctcttGagtgcgtactcagcccagac	7	10	10	14	1	3	2	1	1	2	1	3	2	3	2	3	1	4	2	3	1	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:1564934G>C	ENST00000572621.1	-	25	4438	c.4173C>G	c.(4171-4173)ctC>ctG	p.L1391L	PRPF8_ENST00000304992.6_Silent_p.L1391L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1391	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTGCCTCTTGAGTGCGTACT	0.572																																																	0													98	81	87					17																	1564934		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4173C>G	17.37:g.1564934G>C			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.L1391	ENST00000572621.1	37	c.4173	CCDS11010.1	17																																																																																			PRPF8	-	NULL	ENSG00000174231		0.572	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	-	0	20	0	G			1564934	-1	tier1	-	no_errors	ENST00000304992	ensembl	human	known	74_37	silent	27.27	8	3	SNP	1.000	C	C	1564934	G	C	1564934	2	2	91	1	0	0	0	0	0	0	0	1	12617	1277	45	5		5	PRPF8	17	1564934	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		1564934	79630276	406	26479											
PAFAH1B1	5048	genome.wustl.edu	37	chr17	2579890	2579890	+	Frame_Shift_Del	DEL	T	T	-																															tgtcagtactggcatgtgccTtatgaccctcgtaagtttgc																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:2579890delT	ENST00000397195.5	+	9	1443	c.992delT	c.(991-993)cttfs	p.L331fs	PAFAH1B1_ENST00000572915.2_Intron|PAFAH1B1_ENST00000451360.2_Intron	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GGCATGTGCCTTATGACCCTC	0.363																																																	0													193	162	173					17																	2579890		2203	4300	6503	SO:0001589	frameshift_variant	0			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"WD repeat domain containing"	8574	protein-coding gene	gene with protein product	"lissencephaly-1"	601545	"platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.992delT	17.37:g.2579890delT	ENSP00000380378:p.Leu331fs			Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.M332fs	ENST00000397195.5	37	c.992	CCDS32528.1	17																																																																																			PAFAH1B1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000007168		0.363	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2		0	39	0	T	NM_000430		2579890	1	tier1		no_errors	ENST00000397195	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	1.000	-	-	2579890	T	-	2579890	7	5	91	1	0	1	0	1	0	0	0	0	11423	1609	56	0	1022	0	PAFAH1B1	17	2579890	Frame_Shift_Del	DEL	T	TCGA-L5-A8NS-01A-12D-A37C-09	1014956	2579890	78615320	407	26480											
FXR2	9513	genome.wustl.edu	37	chr17	7496858	7496858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgccaccgctgccccgcCcactcccaggagggcgaaag	7	3	12	19	4	0	0	0	0	0	0	1	2	1	1	6	2	2	2	6	2	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:7496858C>G	ENST00000250113.7	-	12	1527	c.1193G>C	c.(1192-1194)gGg>gCg	p.G398A	FXR2_ENST00000573057.1_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	398						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GCTGCCCCGCCCACTCCCAGG	0.602																																																	0													18	22	21					17																	7496858		2090	4213	6303	SO:0001583	missense	0			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1193G>C	17.37:g.7496858C>G	ENSP00000250113:p.Gly398Ala		B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.G398A	ENST00000250113.7	37	c.1193	CCDS45604.1	17	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352344	0.24512	.	.	ENSG00000129245	ENST00000250113	T	0.29397	1.57	5.28	5.28	0.74379	.	0.079527	0.51477	D	0.000095	T	0.21062	0.0507	N	0.08118	0	0.51012	D	0.999908	B	0.34372	0.451	B	0.38921	0.285	T	0.09885	-1.0654	10	0.33141	T	0.24	0.0486	16.4423	0.83905	0.0:1.0:0.0:0.0	.	398	P51116	FXR2_HUMAN	A	398	ENSP00000250113:G398A	ENSP00000250113:G398A	G	-	2	0	FXR2	7437583	0.980000	0.34600	1.000000	0.80357	0.277000	0.26821	3.048000	0.49862	2.747000	0.94245	0.462000	0.41574	GGG	FXR2	-	pfam_Frag_X_MRP_fam	ENSG00000129245		0.602	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	HGNC	protein_coding	OTTHUMT00000441084.1		0	42	0	C			7496858	-1			no_errors	ENST00000250113	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	G	G	7496858	C	G	7496858	3	3	91	1	0	0	0	0	1	0	0	0	6140	623	22	5	752	5	FXR2	17	7496858	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4916968	7496858	73698352	408	26481											
TP53	7157	genome.wustl.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs397516437|rs121912651		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	GRCh37	CM010465|CM900211	TP53	M	rs121912651						151	112	125					17																	7577539		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248W	ENST00000269305.4	37	c.742	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	40	0	G	NM_000546		7577539	-1	tier1	rs121912651	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	45.45	12	10	SNP	1.000	A	A	7577539	G	A	7577539	3	1	91	1	0	0	0	0	1	0	0	0	16429	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	80681	7577539	73617671	409	26482											
DNAH2	146754	genome.wustl.edu	37	chr17	7690293	7690293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaacatgaactccgtcaTggacgataacaaggtgttga	14	8	11	8	3	1	3	1	2	0	1	2	6	2	4	1	2	3	1	1	2	4	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:7690293T>C	ENST00000572933.1	+	42	8005	c.6545T>C	c.(6544-6546)aTg>aCg	p.M2182T	DNAH2_ENST00000389173.2_Missense_Mutation_p.M2182T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2182	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACTCCGTCATGGACGATAAC	0.587																																																	0													94	63	73					17																	7690293		2203	4300	6503	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6545T>C	17.37:g.7690293T>C	ENSP00000458355:p.Met2182Thr		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M2182T	ENST00000572933.1	37	c.6545	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	T	24.1	4.499311	0.85069	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	D	0.87334	-2.24	5.16	5.16	0.70880	ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	H	0.96111	3.77	0.80722	D	1	D	0.71674	0.998	D	0.72625	0.978	D	0.96642	0.9475	10	0.87932	D	0	.	14.1147	0.65146	0.0:0.0:0.0:1.0	.	2182	Q9P225	DYH2_HUMAN	T	2182	ENSP00000373825:M2182T	ENSP00000353818:M2182T	M	+	2	0	DNAH2	7631018	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.725000	0.84808	2.159000	0.67721	0.528000	0.53228	ATG	DNAH2	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	ENSG00000183914		0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	29	0	T	NM_020877		7690293	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	C	C	7690293	T	C	7690293	3	2	91	1	0	0	0	0	1	0	0	0	4616	1464	51	4	6707	4	DNAH2	17	7690293	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	112754	7690293	73504917	410	26483											
MYH1	4619	genome.wustl.edu	37	chr17	10405218	10405218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttcttgttccaaaGatccttcaagctaaaagtta	11	18	4	8	0	3	1	1	0	2	1	5	1	5	1	2	0	1	3	2	0	5	9			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:10405218G>T	ENST00000226207.5	-	25	3216	c.3122C>A	c.(3121-3123)tCt>tAt	p.S1041Y	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1041					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGTTCCAAAGATCCTTCAAG	0.343																																																	0													66	57	60					17																	10405218		2202	4298	6500	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3122C>A	17.37:g.10405218G>T	ENSP00000226207:p.Ser1041Tyr		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S1041Y	ENST00000226207.5	37	c.3122	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487915	0.84854	.	.	ENSG00000109061	ENST00000226207	D	0.91237	-2.81	5.62	5.62	0.85841	.	0.000000	0.42964	U	0.000630	D	0.95310	0.8478	M	0.93898	3.47	0.80722	D	1	P	0.48998	0.918	P	0.49708	0.62	D	0.96020	0.9008	10	0.87932	D	0	.	20.0377	0.97569	0.0:0.0:1.0:0.0	.	1041	P12882	MYH1_HUMAN	Y	1041	ENSP00000226207:S1041Y	ENSP00000226207:S1041Y	S	-	2	0	MYH1	10345943	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.704000	0.98716	2.822000	0.97130	0.650000	0.86243	TCT	MYH1	-	NULL	ENSG00000109061		0.343	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	45	0	G	NM_005963		10405218	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	50.00	10	10	SNP	1.000	T	T	10405218	G	T	10405218	3	4	91	1	0	0	0	0	1	0	0	0	10067	942	33	3	2761	3	MYH1	17	10405218	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2714925	10405218	70789992	411	26484											
KSR1	8844	genome.wustl.edu	37	chr17	25909803	25909803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcccagctgggcagaGcaggcaacagcgcccagggc	9	2	16	14	1	0	1	0	0	0	1	1	2	1	2	2	4	5	5	2	4	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:25909803G>A	ENST00000319524.6	+	4	652	c.652G>A	c.(652-654)Gca>Aca	p.A218T	KSR1_ENST00000268763.6_Missense_Mutation_p.A81T|KSR1_ENST00000398988.3_Missense_Mutation_p.A81T|KSR1_ENST00000509603.2_Missense_Mutation_p.A218T			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	218					Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A218S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCTGGGCAGAGCAGGCAACAG	0.682																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												2	Substitution - Missense(2)	large_intestine(2)											28	34	32					17																	25909803		2080	4201	6281	SO:0001583	missense	0			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.652G>A	17.37:g.25909803G>A	ENSP00000323178:p.Ala218Thr		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A218T	ENST00000319524.6	37	c.652		17	.	.	.	.	.	.	.	.	.	.	G	2.069	-0.413534	0.04799	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T;T;T	0.00476	7.15;7.15;7.15	4.97	-5.53	0.02552	.	1.344380	0.04393	N	0.362746	T	0.00271	0.0008	L	0.28274	0.84	0.21325	N	0.99972	B	0.19817	0.039	B	0.14023	0.01	T	0.43940	-0.9360	10	0.08179	T	0.78	.	9.0662	0.36465	0.1535:0.4933:0.3532:0.0	.	216	Q8IVT5	KSR1_HUMAN	T	218;218;81;81	ENSP00000323178:A218T;ENSP00000438795:A218T;ENSP00000268763:A81T	ENSP00000268763:A81T	A	+	1	0	KSR1	22933930	0.004000	0.15560	0.176000	0.23000	0.036000	0.12997	-0.666000	0.05280	-0.869000	0.04052	0.455000	0.32223	GCA	KSR1	-	NULL	ENSG00000141068		0.682	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		-	0	87	0	G	NM_014238		25909803	1	tier1	-	no_errors	ENST00000319524	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.688	A	A	25909803	G	A	25909803	3	1	91	1	0	0	0	0	1	0	0	0	8609	971	34	3	247	3	KSR1	17	25909803	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	15504585	25909803	55285407	412	26485											
IFT20	90410	genome.wustl.edu	37	chr17	26656251	26656251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttgaagttgctgctgttGagcttctctctgctttgcta	4	17	11	9	0	2	2	0	2	2	0	3	2	2	2	0	1	5	8	0	1	2	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:26656251G>C	ENST00000585313.1	-	5	402	c.265C>G	c.(265-267)Caa>Gaa	p.Q89E	IFT20_ENST00000578985.1_Missense_Mutation_p.Q115E|IFT20_ENST00000578122.1_Missense_Mutation_p.Q115E|IFT20_ENST00000395418.3_Missense_Mutation_p.Q89E|IFT20_ENST00000357896.3_Nonsense_Mutation_p.S128*|IFT20_ENST00000579419.1_Missense_Mutation_p.Q89E|IFT20_ENST00000585089.1_Missense_Mutation_p.Q115E	NM_001267775.1	NP_001254704.1	Q8IY31	IFT20_HUMAN	intraflagellar transport 20	89	IFT57-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|centrosome localization (GO:0051642)|cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|neural precursor cell proliferation (GO:0061351)|opsin transport (GO:0036372)|photoreceptor cell outer segment organization (GO:0035845)|protein localization to cilium (GO:0061512)|protein localization to Golgi apparatus (GO:0034067)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cilium assembly (GO:1902017)|smoothened signaling pathway (GO:0007224)|visual learning (GO:0008542)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				lung(2)	2	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TGCTGCTGTTGAGCTTCTCTC	0.428																																																	0													246	208	221					17																	26656251		2203	4300	6503	SO:0001583	missense	0			AF070643	CCDS32593.1, CCDS58533.1, CCDS58534.1, CCDS58535.1, CCDS74017.1	17q11.2	2014-07-03	2014-07-03			ENSG00000109083		"Intraflagellar transport homologs"	30989	protein-coding gene	gene with protein product		614394	"intraflagellar transport 20 homolog (Chlamydomonas)"				Standard	NM_001267774		Approved		uc002hau.2	Q8IY31		ENST00000585313.1:c.265C>G	17.37:g.26656251G>C	ENSP00000463138:p.Gln89Glu		J3QL09|Q5GLZ2|Q9BUG5	Nonsense_Mutation	SNP	NULL	p.S128*	ENST00000585313.1	37	c.383	CCDS58534.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.565720|5.565720	0.96540|0.96540	.|.	.|.	ENSG00000109083|ENSG00000109083	ENST00000395418|ENST00000357896	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.046975|.	0.85682|.	D|.	0.000000|.	T|.	0.57198|.	0.2037|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P;P|.	0.50443|.	0.935;0.663|.	P;B|.	0.45639|.	0.488;0.159|.	T|.	0.44097|.	-0.9350|.	8|.	0.11794|0.10111	T|T	0.64|0.7	-24.3538|-24.3538	19.2479|19.2479	0.93909|0.93909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	89;115|.	Q8IY31;Q8IY31-2|.	IFT20_HUMAN;.|.	E|X	89|128	.|.	ENSP00000378809:Q89E|ENSP00000350570:S128X	Q|S	-|-	1|2	0|0	IFT20|IFT20	23680378|23680378	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.965000|0.965000	0.64279|0.64279	6.952000|6.952000	0.75989|0.75989	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	CAA|TCA	IFT20	-	NULL	ENSG00000109083		0.428	IFT20-008	NOVEL	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	IFT20	HGNC	protein_coding	OTTHUMT00000446153.2	-	0	48	0	G	NM_174887		26656251	-1	tier1	-	no_errors	ENST00000357896	ensembl	human	known	74_37	nonsense	23.08	20	6	SNP	1.000	C	C	26656251	G	C	26656251	3	2	91	1	0	0	0	0	1	0	0	0	7585	1294	45	5	71	5	IFT20	17	26656251	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	746448	26656251	54538959	413	26486											
TAOK1	57551	genome.wustl.edu	37	chr17	27794201	27794201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgaagtggtggccatcaaGaaaatgtcttatagtggaaa	16	10	11	4	0	2	2	1	1	1	1	2	3	2	3	1	3	0	0	1	3	8	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:27794201G>A	ENST00000261716.3	+	3	690	c.171G>A	c.(169-171)aaG>aaA	p.K57K	TAOK1_ENST00000536202.1_Silent_p.K57K	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	57	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGCCATCAAGAAAATGTCTT	0.323																																																	0													122	121	121					17																	27794201		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.171G>A	17.37:g.27794201G>A			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K57	ENST00000261716.3	37	c.171	CCDS32601.1	17																																																																																			TAOK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160551		0.323	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1		0	24	0	G	NM_020791		27794201	1			no_errors	ENST00000261716	ensembl	human	known	74_37	silent	15.38	11	2	SNP	1.000	A	A	27794201	G	A	27794201	2	1	91	1	0	0	0	0	0	0	0	1	15594	933	33	3		3	TAOK1	17	27794201	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1137950	27794201	53401009	414	26487											
TAOK1	57551	genome.wustl.edu	37	chr17	27822704	27822704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaactccttttccaggagGcacataatggaccagcagta	14	8	9	10	0	0	1	0	0	0	1	2	3	2	3	3	3	2	3	3	3	3	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:27822704G>A	ENST00000261716.3	+	11	1477	c.958G>A	c.(958-960)Gca>Aca	p.A320T	TAOK1_ENST00000536202.1_Missense_Mutation_p.A320T	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	320					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TTTCCAGGAGGCACATAATGG	0.388																																																	0													87	80	83					17																	27822704		2203	4300	6503	SO:0001583	missense	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.958G>A	17.37:g.27822704G>A	ENSP00000261716:p.Ala320Thr		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A320T	ENST00000261716.3	37	c.958	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839622	0.32513	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;D	0.85088	-1.94;-1.94	5.21	5.21	0.72293	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71753	0.3377	N	0.08118	0	0.80722	D	1	B;B;B	0.11235	0.004;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.67245	-0.5719	10	0.09590	T	0.72	.	19.1313	0.93408	0.0:0.0:1.0:0.0	.	320;146;320	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	T	320	ENSP00000261716:A320T;ENSP00000438819:A320T	ENSP00000261716:A320T	A	+	1	0	TAOK1	24846830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.862000	0.87013	2.595000	0.87683	0.557000	0.71058	GCA	TAOK1	-	superfamily_Kinase-like_dom	ENSG00000160551		0.388	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1		0	37	0	G	NM_020791		27822704	1			no_errors	ENST00000261716	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	27822704	G	A	27822704	3	1	91	1	0	0	0	0	1	0	0	0	15594	1203	42	3	996	3	TAOK1	17	27822704	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	28503	27822704	53372506	415	26488											
CORO6	84940	genome.wustl.edu	37	chr17	27948355	27948355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgaccttggacacacGgatgtcctcgtaggcctggt	7	10	12	12	2	0	1	0	1	0	0	2	3	1	3	4	4	0	1	4	4	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:27948355G>A	ENST00000445145.2	-	1	86	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Missense_Mutation_p.R29C|CORO6_ENST00000584969.1_Missense_Mutation_p.R29C|CORO6_ENST00000388767.3_Missense_Mutation_p.R29C|CORO6_ENST00000580212.1_Missense_Mutation_p.R29C|RP11-68I3.10_ENST00000582367.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	29					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TTGGACACACGGATGTCCTCG	0.587																																																	0													73	77	76					17																	27948355		2192	4296	6488	SO:0001583	missense	0			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"Coronins", "WD repeat domain containing"	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.85C>T	17.37:g.27948355G>A	ENSP00000393624:p.Arg29Cys		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R29C	ENST00000445145.2	37	c.85		17	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899777	0.52227	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.62498	0.1;0.02	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.85186	0.5639	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88596	0.3146	10	0.87932	D	0	-11.1491	19.2367	0.93864	0.0:0.0:1.0:0.0	.	29	Q6QEF8-5	.	C	100;29;29	ENSP00000373419:R29C;ENSP00000393624:R29C	ENSP00000344562:R100C	R	-	1	0	CORO6	24972481	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.452000	0.66638	2.717000	0.92951	0.655000	0.94253	CGT	CORO6	-	pfam_DUF1899	ENSG00000167549		0.587	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1		0	26	0	G	NM_032854		27948355	-1			no_errors	ENST00000345068	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A	A	27948355	G	A	27948355	3	1	91	1	0	0	0	0	1	0	0	0	3765	1116	39	1	1373	1	CORO6	17	27948355	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	125651	27948355	53246855	416	26489											
EFCAB5	374786	genome.wustl.edu	37	chr17	28418937	28418937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaattctcttcttccGaatcatgctgctcgagctac	8	12	9	12	2	3	0	1	0	2	0	6	3	4	1	1	2	4	4	1	2	3	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:28418937G>T	ENST00000394835.3	+	21	4178	c.3986G>T	c.(3985-3987)cGa>cTa	p.R1329L	EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1205L	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1329							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCTTCTTCCGAATCATGCTG	0.423																																																	0													114	107	109					17																	28418937		1904	4136	6040	SO:0001583	missense	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"EF-hand domain containing"	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3986G>T	17.37:g.28418937G>T	ENSP00000378312:p.Arg1329Leu		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.R1329L	ENST00000394835.3	37	c.3986	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591231	0.86851	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.30714	1.52;1.64;1.62	5.72	4.75	0.60458	.	0.000000	0.64402	D	0.000005	T	0.54143	0.1840	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.56685	-0.7938	10	0.87932	D	0	-7.2405	14.2419	0.65963	0.0727:0.0:0.9272:0.0	.	1205;1329	E7EVS9;A4FU69	.;EFCB5_HUMAN	L	1329;1205;1011	ENSP00000378312:R1329L;ENSP00000322003:R1205L;ENSP00000417009:R1011L	ENSP00000322003:R1205L	R	+	2	0	EFCAB5	25443063	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.809000	0.55606	2.709000	0.92574	0.655000	0.94253	CGA	EFCAB5	-	NULL	ENSG00000176927		0.423	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4		0	47	0	G	NM_198529		28418937	1			no_errors	ENST00000394835	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.997	T	T	28418937	G	T	28418937	3	4	91	1	0	0	0	0	1	0	0	0	4952	1058	37	2	4235	2	EFCAB5	17	28418937	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	470582	28418937	52776273	417	26490											
ZNF207	7756	genome.wustl.edu	37	chr17	30696738	30696738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcctcctcgacctccgatggGaatgagacctcctgtaatgt	8	10	10	13	2	0	1	0	1	0	1	4	5	3	2	6	1	0	1	6	1	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:30696738G>C	ENST00000321233.6	+	11	1551	c.1397G>C	c.(1396-1398)gGa>gCa	p.G466A	ZNF207_ENST00000577908.1_Missense_Mutation_p.G482A|ZNF207_ENST00000394673.2_Missense_Mutation_p.G451A|ZNF207_ENST00000342555.6_Missense_Mutation_p.G485A|ZNF207_ENST00000341711.6_Missense_Mutation_p.G383A|ZNF207_ENST00000394670.4_Missense_Mutation_p.G482A	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	466					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CCTCCGATGGGAATGAGACCT	0.532																																																	0													84	74	77					17																	30696738		2203	4300	6503	SO:0001583	missense	0			AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"Zinc fingers, C2H2-type"	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.1397G>C	17.37:g.30696738G>C	ENSP00000322777:p.Gly466Ala		A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.G482A	ENST00000321233.6	37	c.1445	CCDS11271.1	17	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452703	0.63290	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000341711;ENST00000342555	T;T;T	0.55413	0.54;0.52;0.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.996;0.996;0.996;0.996;0.996	T	0.61143	-0.7122	10	0.40728	T	0.16	.	20.1518	0.98089	0.0:0.0:1.0:0.0	.	435;485;482;451;466	A8MTG3;Q59G94;E1P660;O43670-2;O43670	.;.;.;.;ZN207_HUMAN	A	482;435;485;451;383;466	ENSP00000378165:G482A;ENSP00000344913:G383A;ENSP00000340029:G466A	ENSP00000322777:G451A	G	+	2	0	ZNF207	27720851	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.019000	0.88732	2.769000	0.95229	0.491000	0.48974	GGA	ZNF207	-	NULL	ENSG00000010244		0.532	ZNF207-003	KNOWN	basic|CCDS	protein_coding	ZNF207	HGNC	protein_coding	OTTHUMT00000256251.2	-	0	18	0	G			30696738	1	tier1	-	no_errors	ENST00000394670	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	C	C	30696738	G	C	30696738	3	2	91	1	0	0	0	0	1	0	0	0	17813	1174	41	5	1491	5	ZNF207	17	30696738	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2277801	30696738	50498472	418	26491											
TMEM132E	124842	genome.wustl.edu	37	chr17	32963118	32963118	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacagcttcaggcccaggtGgtggccagcctggccctctc	6	7	12	16	0	2	0	1	0	1	0	3	0	2	0	4	5	2	1	4	5	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:32963118G>C	ENST00000321639.5	+	9	2128	c.1800G>C	c.(1798-1800)gtG>gtC	p.V600V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	600						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGGCCCAGGTGGTGGCCAGCC	0.652																																																	0													64	45	52					17																	32963118		2203	4300	6503	SO:0001819	synonymous_variant	0			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.1800G>C	17.37:g.32963118G>C			Q8WUF4|Q8WVA5	Silent	SNP	NULL	p.V600	ENST00000321639.5	37	c.1800	CCDS11283.1	17																																																																																			TMEM132E	-	NULL	ENSG00000181291		0.652	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	-	0	51	0	G	NM_207313		32963118	1	tier1	-	no_errors	ENST00000321639	ensembl	human	known	74_37	silent	14.63	35	6	SNP	1.000	C	C	32963118	G	C	32963118	2	2	91	1	0	0	0	0	0	0	0	1	16095	1335	47	5		5	TMEM132E	17	32963118	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	2266380	32963118	48232092	419	26492											
GAS2L2	246176	genome.wustl.edu	37	chr17	34072683	34072683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacttctagcagcttcatGttgcccaaaatctcctcttc	8	14	5	14	0	4	1	1	1	3	0	6	1	4	1	2	0	3	3	2	0	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:34072683G>A	ENST00000254466.6	-	6	1860	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	GAS2L2_ENST00000587565.1_Silent_p.N595N	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	611					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCAGCTTCATGTTGCCCAAAA	0.607																																																	0													110	109	109					17																	34072683		2203	4300	6503	SO:0001819	synonymous_variant	0			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1833C>T	17.37:g.34072683G>A			Q8NHY4	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.N611	ENST00000254466.6	37	c.1833	CCDS11298.1	17																																																																																			GAS2L2	-	NULL	ENSG00000132139		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	-	0	34	0	G	NM_139285		34072683	-1	tier1	-	no_errors	ENST00000254466	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.958	A	A	34072683	G	A	34072683	2	1	91	1	0	0	0	0	0	0	0	1	6272	1368	48	3		3	GAS2L2	17	34072683	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1109565	34072683	47122527	420	26493											
SRCIN1	80725	genome.wustl.edu	37	chr17	36719671	36719671	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggaacatgtgcgcgaTgagtgcgtgcagcgtgtcca	7	8	16	10	5	0	1	0	1	0	0	1	3	1	2	1	1	6	1	1	1	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:36719671T>A	ENST00000264659.7	-	5	852	c.628A>T	c.(628-630)Atc>Ttc	p.I210F	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.I244F	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	82					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ATGTGCGCGATGAGTGCGTGC	0.607																																																	0													47	51	50					17																	36719671		2187	4267	6454	SO:0001583	missense	0				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"p130Cas-associated protein", "SNAP-25-interacting protein"	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.628A>T	17.37:g.36719671T>A	ENSP00000264659:p.Ile210Phe		Q75T46|Q8N4W8	Missense_Mutation	SNP	pfam_AIP3_C	p.I210F	ENST00000264659.7	37	c.628	CCDS45660.1	17	.	.	.	.	.	.	.	.	.	.	T	12.32	1.904068	0.33628	.	.	ENSG00000017373	ENST00000264659;ENST00000398579	T	0.58060	0.36	5.0	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	N	0.16790	0.44	0.52099	D	0.999947	P;D;D;D	0.89917	0.917;0.971;0.971;1.0	P;P;P;D	0.87578	0.804;0.835;0.835;0.998	T	0.49062	-0.8978	10	0.02654	T	1	-16.6874	9.9255	0.41489	0.0:0.0826:0.0:0.9174	.	64;82;82;210	B4DHC2;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	F	210;64	ENSP00000264659:I210F	ENSP00000264659:I210F	I	-	1	0	SRCIN1	33973197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.951000	0.70273	0.859000	0.35456	0.528000	0.53228	ATC	SRCIN1	-	pfam_AIP3_C	ENSG00000017373		0.607	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRCIN1	HGNC	protein_coding	OTTHUMT00000441878.4	-	0	48	0	T	NM_025248		36719671	-1	tier1	-	no_errors	ENST00000264659	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A	A	36719671	T	A	36719671	3	1	91	1	0	0	0	0	1	0	0	0	15183	1464	51	5	2983	5	SRCIN1	17	36719671	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	2646988	36719671	44475539	421	26494											
PLXDC1	57125	genome.wustl.edu	37	chr17	37234173	37234173	+	Frame_Shift_Del	DEL	G	G	-																															gctcagaacttaccttctgtGgtgaggctgtcgatgaagag																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:37234173delG	ENST00000315392.4	-	11	1390	c.1179delC	c.(1177-1179)accfs	p.T394fs	CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Frame_Shift_Del_p.T354fs	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	394					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TACCTTCTGTGGTGAGGCTGT	0.607																																																	0													119	93	102					17																	37234173		2203	4300	6503	SO:0001589	frameshift_variant	0			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"tumor endothelial marker 7 precursor"	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.1179delC	17.37:g.37234173delG	ENSP00000323927:p.Thr394fs		B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Frame_Shift_Del	DEL	pfam_Plexin_repeat,superfamily_Plexin-like_fold	p.T394fs	ENST00000315392.4	37	c.1179	CCDS11333.1	17																																																																																			PLXDC1	-	NULL	ENSG00000161381		0.607	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC1	HGNC	protein_coding	OTTHUMT00000256892.2		0	25	0	G	NM_020405		37234173	-1	tier1		no_errors	ENST00000315392	ensembl	human	known	74_37	frame_shift_del	47.37	10	9	DEL	1.000	-	-	37234173	G	-	37234173	7	5	91	1	0	1	0	1	0	0	0	0	12156	1335	47	0	339	0	PLXDC1	17	37234173	Frame_Shift_Del	DEL	G	TCGA-L5-A8NS-01A-12D-A37C-09	514502	37234173	43961037	422	26495											
GRB7	2886	genome.wustl.edu	37	chr17	37898911	37898911	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctccctcacagagcccaaTtctcgggggcccctccagtg	6	8	9	18	1	2	1	1	0	1	1	6	1	5	1	6	2	1	0	6	2	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:37898911T>A	ENST00000309156.4	+	3	505	c.248T>A	c.(247-249)aTt>aAt	p.I83N	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.I83N|GRB7_ENST00000445327.2_Missense_Mutation_p.I106N|GRB7_ENST00000309185.3_Missense_Mutation_p.I83N|GRB7_ENST00000394211.3_Missense_Mutation_p.I83N|GRB7_ENST00000394204.1_Missense_Mutation_p.I83N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	83					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGAGCCCAATTCTCGGGGGC	0.652																																																	0													52	61	58					17																	37898911		2203	4300	6503	SO:0001583	missense	0			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.248T>A	17.37:g.37898911T>A	ENSP00000310771:p.Ile83Asn		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.I106N	ENST00000309156.4	37	c.317	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	T	9.479	1.097612	0.20552	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.3	5.3	0.74995	.	0.111433	0.64402	D	0.000009	T	0.62490	0.2432	L	0.50333	1.59	0.47949	D	0.999554	D;D	0.89917	1.0;0.964	D;P	0.87578	0.998;0.714	T	0.62632	-0.6813	10	0.46703	T	0.11	-12.4921	14.2145	0.65783	0.0:0.0:0.0:1.0	.	83;83	Q14451-2;Q14451	.;GRB7_HUMAN	N	83;83;83;83;106;83	ENSP00000311752:I83N;ENSP00000310771:I83N;ENSP00000377761:I83N;ENSP00000377759:I83N;ENSP00000403459:I106N;ENSP00000377754:I83N	ENSP00000310771:I83N	I	+	2	0	GRB7	35152437	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	4.711000	0.61881	2.019000	0.59389	0.459000	0.35465	ATT	GRB7	-	NULL	ENSG00000141738		0.652	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	-	0	32	0	T	NM_005310		37898911	1	tier1	-	no_errors	ENST00000445327	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	A	A	37898911	T	A	37898911	3	1	91	1	0	0	0	0	1	0	0	0	6786	1493	52	5	254	5	GRB7	17	37898911	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	664738	37898911	43296299	423	26496											
GRB7	2886	genome.wustl.edu	37	chr17	37898928	37898928	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctcgggggcccctccAgtgcaagggggctgctcccc	5	7	13	16	1	1	0	0	0	1	0	4	0	3	0	5	4	2	3	5	4	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:37898928A>C	ENST00000309156.4	+	3	522	c.265A>C	c.(265-267)Agt>Cgt	p.S89R	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394209.2_Missense_Mutation_p.S89R|GRB7_ENST00000445327.2_Missense_Mutation_p.S112R|GRB7_ENST00000309185.3_Missense_Mutation_p.S89R|GRB7_ENST00000394211.3_Missense_Mutation_p.S89R|GRB7_ENST00000394204.1_Missense_Mutation_p.S89R	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	89					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGGCCCCTCCAGTGCAAGGGG	0.652																																																	0													44	51	49					17																	37898928		2201	4293	6494	SO:0001583	missense	0			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.265A>C	17.37:g.37898928A>C	ENSP00000310771:p.Ser89Arg		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.S112R	ENST00000309156.4	37	c.334	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	A	3.393	-0.123830	0.06795	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.3	-1.28	0.09318	.	0.830510	0.10803	N	0.632451	T	0.36744	0.0978	L	0.40543	1.245	0.09310	N	1	P;B	0.42203	0.773;0.06	B;B	0.42422	0.387;0.022	T	0.29243	-1.0018	10	0.15952	T	0.53	-0.6534	10.0572	0.42252	0.4899:0.0:0.5101:0.0	.	89;89	Q14451-2;Q14451	.;GRB7_HUMAN	R	89;89;89;89;112;89	ENSP00000311752:S89R;ENSP00000310771:S89R;ENSP00000377761:S89R;ENSP00000377759:S89R;ENSP00000403459:S112R;ENSP00000377754:S89R	ENSP00000310771:S89R	S	+	1	0	GRB7	35152454	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.462000	0.06704	-0.271000	0.09272	0.459000	0.35465	AGT	GRB7	-	NULL	ENSG00000141738		0.652	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	-	0	30	0	A	NM_005310		37898928	1	tier1	-	no_errors	ENST00000445327	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.000	C	C	37898928	A	C	37898928	3	2	91	1	0	0	0	0	1	0	0	0	6786	188	7	4	271	4	GRB7	17	37898928	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	17	37898928	43296282	424	26497											
TOP2A	7153	genome.wustl.edu	37	chr17	38567942	38567942	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctaatttgctgaaagccTttttcactcatagttaaaca	14	14	5	8	0	2	1	2	1	0	0	2	1	2	1	1	0	4	3	1	0	6	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTGAAAGCCTTTTTCACTCA	0.318																																																	0													117	108	111					17																	38567942		1845	4088	5933	SO:0001819	synonymous_variant	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.918A>G	17.37:g.38567942T>C			B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.K306	ENST00000423485.1	37	c.918	CCDS45672.1	17																																																																																			TOP2A	-	pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	ENSG00000131747		0.318	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1		0	47	0	T			38567942	-1			no_errors	ENST00000423485	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	C	C	38567942	T	C	38567942	2	2	91	1	0	0	0	0	0	0	0	1	16413	1606	56	4		4	TOP2A	17	38567942	Silent	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	669014	38567942	42627268	425	26498											
NAGLU	4669	genome.wustl.edu	37	chr17	40695907	40695907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagagcaggcccgagcagCggcagtcagtgaggccgagg	9	3	18	11	3	1	2	1	1	0	1	1	4	1	2	2	4	3	4	2	4	1	1	rs535336259		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:40695907C>T	ENST00000225927.2	+	6	1984	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	628					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GCCCGAGCAGCGGCAGTCAGT	0.632																																																	0													22	21	21					17																	40695907		2201	4299	6500	SO:0001583	missense	0				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"Sanfilippo disease IIIB"	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1883C>T	17.37:g.40695907C>T	ENSP00000225927:p.Ala628Val			Missense_Mutation	SNP	pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.A628V	ENST00000225927.2	37	c.1883	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	C	1.057	-0.674120	0.03378	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98550	-4.99	4.69	-5.16	0.02857	Alpha-N-acetylglucosaminidase, C-terminal (1);	1.067650	0.07060	N	0.833636	D	0.91831	0.7415	N	0.02721	-0.515	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	D	0.83423	0.0034	10	0.22109	T	0.4	-0.3261	12.8682	0.57951	0.0:0.2523:0.0:0.7477	.	628	P54802	ANAG_HUMAN	V	628;304	ENSP00000225927:A628V	ENSP00000225927:A628V	A	+	2	0	NAGLU	37949433	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.126000	0.01316	-0.742000	0.04790	-0.459000	0.05422	GCG	NAGLU	-	pfam_NAGLU_tim-barrel	ENSG00000108784		0.632	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	HGNC	protein_coding	OTTHUMT00000450385.1	-	0	42	0	C	NM_000263		40695907	1	tier1	-	no_errors	ENST00000225927	ensembl	human	known	74_37	missense	13.16	33	5	SNP	0.000	T	T	40695907	C	T	40695907	3	4	91	1	0	0	0	0	1	0	0	0	10181	768	27	1	1905	1	NAGLU	17	40695907	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2127965	40695907	40499303	426	26499											
BRCA1	672	genome.wustl.edu	37	chr17	41244511	41244511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgttctcatttcccatttCtctttcaggtgacattgaat	9	18	5	9	0	3	2	2	2	2	0	6	2	4	2	1	1	0	1	1	1	2	5	rs397507208		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:41244511C>G	ENST00000357654.3	-	10	3155	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E717Q|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1013Q|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E1013Q|BRCA1_ENST00000493795.1_Missense_Mutation_p.E966Q|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.E1013Q	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1013					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTCCCATTTCTCTTTCAGGT	0.333			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													119	116	117					17																	41244511		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"RING-type (C3HC4) zinc fingers", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1100	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 1", "protein phosphatase 1, regulatory subunit 53"	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.3037G>C	17.37:g.41244511C>G	ENSP00000350283:p.Glu1013Gln		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.E1013Q	ENST00000357654.3	37	c.3037	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	4.056	0.008206	0.07912	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	4.9	-1.71	0.08133	.	0.906070	0.09301	N	0.820905	T	0.56963	0.2021	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.16802	0.002;0.009;0.019;0.017;0.01;0.003	B;B;B;B;B;B	0.24394	0.008;0.008;0.053;0.032;0.032;0.003	T	0.50118	-0.8865	10	0.87932	D	0	.	9.0883	0.36594	0.0:0.5611:0.0:0.4389	.	1013;972;1013;1013;1013;1013	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Q	1013;1013;1013;1013;717;1013;966	ENSP00000350283:E1013Q;ENSP00000326002:E1013Q;ENSP00000246907:E1013Q;ENSP00000310938:E717Q;ENSP00000418960:E1013Q;ENSP00000418775:E966Q	ENSP00000310938:E717Q	E	-	1	0	BRCA1	38498037	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.111000	0.15458	-0.441000	0.07201	-0.484000	0.04775	GAA	BRCA1	-	pirsf_BRCA1	ENSG00000012048		0.333	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0	51	0	C	NM_007294		41244511	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	15.00	34	6	SNP	0.000	G	G	41244511	C	G	41244511	3	3	91	1	0	0	0	0	1	0	0	0	1502	922	32	5	2680	5	BRCA1	17	41244511	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	548604	41244511	39950699	427	26500											
MEOX1	4222	genome.wustl.edu	37	chr17	41738715	41738715	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgccaggcaggaggctGagaagtcagggtacgctgcc	8	6	17	10	1	1	1	1	1	0	1	1	3	1	2	2	5	3	5	2	5	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:41738715G>C	ENST00000318579.4	-	1	607	c.188C>G	c.(187-189)tCa>tGa	p.S63*	MEOX1_ENST00000329168.3_Nonsense_Mutation_p.S63*|MEOX1_ENST00000549132.1_Missense_Mutation_p.Q34E|MEOX1_ENST00000393661.2_5'UTR	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	63					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCAGGAGGCTGAGAAGTCAGG	0.642																																																	0													51	55	53					17																	41738715		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.188C>G	17.37:g.41738715G>C	ENSP00000321684:p.Ser63*		A8K524|A8MWF9|Q15069	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.S63*	ENST00000318579.4	37	c.188	CCDS11466.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.350870|8.350870	0.98772|0.98772	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168	.|.	.|.	.|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|0.063755	.|0.64402	.|D	.|0.000004	T|.	0.74291|.	0.3697|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.80233|.	-0.1467|.	4|.	0.87932|0.59425	D|D	0|0.04	-31.3287|-31.3287	15.9611|15.9611	0.79930|0.79930	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	34|63	.|.	ENSP00000449049:Q34E|ENSP00000321684:S63X	Q|S	-|-	1|2	0|0	MEOX1|MEOX1	39094241|39094241	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.948000|0.948000	0.59901|0.59901	8.541000|8.541000	0.90644|0.90644	2.430000|2.430000	0.82344|0.82344	0.563000|0.563000	0.77884|0.77884	CAG|TCA	MEOX1	-	NULL	ENSG00000005102		0.642	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	-	0	77	0	G			41738715	-1	tier1	-	no_errors	ENST00000318579	ensembl	human	known	74_37	nonsense	11.29	55	7	SNP	1.000	C	C	41738715	G	C	41738715	4	2	91	1	0	0	0	0	0	1	0	0	9511	1294	45	5	588	5	MEOX1	17	41738715	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	494204	41738715	39456495	428	26501											
WFIKKN2	124857	genome.wustl.edu	37	chr17	48917666	48917666	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagtgaggactgtggcgaAgagcagacccgctggcactt	10	6	15	10	2	0	3	0	1	0	2	0	6	0	4	1	3	1	3	1	3	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:48917666A>T	ENST00000311378.4	+	2	1545	c.1017A>T	c.(1015-1017)gaA>gaT	p.E339D	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E246D	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	339	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ACTGTGGCGAAGAGCAGACCC	0.627																																																	0													73	63	67					17																	48917666		2203	4300	6503	SO:0001583	missense	0			AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"Immunoglobulin superfamily / I-set domain containing", "WAP four-disulfide core domain containing"	30916	protein-coding gene	gene with protein product	"WAP four-disulfide core domain 20B"	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1017A>T	17.37:g.48917666A>T	ENSP00000311184:p.Glu339Asp		Q6UXZ9	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m	p.E339D	ENST00000311378.4	37	c.1017	CCDS11575.1	17	.	.	.	.	.	.	.	.	.	.	A	12.11	1.840845	0.32513	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	T;T	0.56941	0.43;0.43	5.31	0.524	0.17066	Proteinase inhibitor I2, Kunitz metazoa (5);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.31420	0.93	0.44694	D	0.997689	B	0.32781	0.384	B	0.36134	0.218	T	0.05500	-1.0881	10	0.12766	T	0.61	.	9.4947	0.38982	0.5008:0.0:0.4992:0.0	.	339	Q8TEU8	WFKN2_HUMAN	D	246;339	ENSP00000405889:E246D;ENSP00000311184:E339D	ENSP00000311184:E339D	E	+	3	2	WFIKKN2	46272665	0.886000	0.30341	0.990000	0.47175	0.219000	0.24729	0.239000	0.18023	0.227000	0.20999	-0.366000	0.07423	GAA	WFIKKN2	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000173714		0.627	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFIKKN2	HGNC	protein_coding	OTTHUMT00000368358.1	-	0	45	0	A	NM_175575		48917666	1	tier1	-	no_errors	ENST00000311378	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.993	T	T	48917666	A	T	48917666	3	4	91	1	0	0	0	0	1	0	0	0	17408	69	3	5	1023	5	WFIKKN2	17	48917666	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7178951	48917666	32277544	429	26502											
VEZF1	7716	genome.wustl.edu	37	chr17	56060674	56060674	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaatggtttctgatcAgggggctccacggcagagct	9	8	15	9	1	2	2	1	1	1	1	3	3	3	3	1	5	2	5	1	5	2	1	rs532205407		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:56060674A>C	ENST00000581208.1	-	2	154	c.114T>G	c.(112-114)ccT>ccG	p.P38P	VEZF1_ENST00000584396.1_Silent_p.P29P	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	38					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GTTTCTGATCAGGGGGCTCCA	0.473																																																	0													96	104	101					17																	56060674		2203	4300	6503	SO:0001819	synonymous_variant	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"Zinc fingers, C2H2-type"	12949	protein-coding gene	gene with protein product		606747	"zinc finger protein 161"	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.114T>G	17.37:g.56060674A>C				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P38	ENST00000581208.1	37	c.114	CCDS32687.1	17																																																																																			VEZF1	-	NULL	ENSG00000136451		0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1	-	0	59	0	A			56060674	-1	tier1	-	no_errors	ENST00000581208	ensembl	human	known	74_37	silent	19.44	29	7	SNP	1.000	C	C	56060674	A	C	56060674	2	2	91	1	0	0	0	0	0	0	0	1	17204	175	7	4		4	VEZF1	17	56060674	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	7143008	56060674	25134536	430	26503											
C17orf71	55181	genome.wustl.edu	37	chr17	57290842	57290842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaagccctaaatagtgaCatgcccttatatattctgtc	13	14	5	9	0	1	1	0	1	1	0	2	1	1	1	2	0	2	0	2	0	8	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:57290842C>T	ENST00000543872.2	+	4	2922	c.2658C>T	c.(2656-2658)gaC>gaT	p.D886D	SMG8_ENST00000300917.5_Silent_p.D886D|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	886					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TAAATAGTGACATGCCCTTAT	0.443																																																	0													117	122	120					17																	57290842		2203	4300	6503	SO:0001819	synonymous_variant	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.2658C>T	17.37:g.57290842C>T			Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Silent	SNP	pfam_Smg8/Smg9	p.D886	ENST00000543872.2	37	c.2658	CCDS11615.1	17																																																																																			SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.443	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0	34	0	C	NM_018149		57290842	1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	silent	34.38	21	11	SNP	1.000	T	T	57290842	C	T	57290842	2	4	91	1	0	0	0	0	0	0	0	1	1884	477	17	3		3	C17orf71	17	57290842	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1230168	57290842	23904368	431	26504											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62855703	62855703	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcatcaggtggcctgTcctggagacgagcttggcac	8	9	13	11	1	2	1	2	0	0	1	3	3	3	1	2	4	2	3	2	4	1	2	rs199620763		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:62855703T>A	ENST00000584306.1	-	11	5091	c.4561A>T	c.(4561-4563)Aca>Tca	p.T1521S	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.T1521S|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.T498S|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.T559S|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.T639S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1521						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGGTGGCCTGTCCTGGAGACG	0.502																																																	0													143	145	144					17																	62855703		2203	4296	6499	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4561A>T	17.37:g.62855703T>A	ENSP00000464535:p.Thr1521Ser		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T1521S	ENST00000584306.1	37	c.4561	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	12.34	1.908743	0.33721	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.54675	0.56;0.56;0.56	2.39	1.3	0.21679	.	.	.	.	.	T	0.65217	0.2670	M	0.73962	2.25	0.20764	N	0.999858	D;P	0.76494	0.999;0.956	D;D	0.72982	0.979;0.931	T	0.51268	-0.8727	9	0.87932	D	0	.	3.6503	0.08201	0.0:0.1998:0.0:0.8002	.	639;1521	B4DG20;O60309	.;L37A3_HUMAN	S	602;559;498;1521	ENSP00000383674:T559S;ENSP00000335617:T498S;ENSP00000325713:T1521S	ENSP00000325713:T1521S	T	-	1	0	LRRC37A3	60286165	0.977000	0.34250	0.995000	0.50966	0.172000	0.22775	1.265000	0.33027	1.098000	0.41479	0.155000	0.16302	ACA	LRRC37A3	-	NULL	ENSG00000176809		0.502	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	-	0	158	0	T	NM_199340		62855703	-1	tier1	-	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	7.45	87	7	SNP	0.994	A	A	62855703	T	A	62855703	3	1	91	1	0	0	0	0	1	0	0	0	9028	1667	58	5	359	5	LRRC37A3	17	62855703	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	5564861	62855703	18339507	432	26505											
APOH	350	genome.wustl.edu	37	chr17	64216829	64216829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacacgaagtgttgcaaaCgtaggtatggatggtggagg	13	9	15	4	2	0	0	0	0	0	0	0	3	0	2	0	5	3	4	0	5	6	4	rs372207366		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:64216829C>T	ENST00000205948.6	-	5	484	c.447G>A	c.(445-447)acG>acA	p.T149T		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	149	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GTGTTGCAAACGTAGGTATGG	0.393																																					Melanoma(155;624 1882 16869 48804 51309)												0								T		0,4406		0,0,2203	104	102	103		447	-8.9	0	17		103	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	APOH	NM_000042.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		149/346	64216829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"Apolipoproteins"	616	protein-coding gene	gene with protein product	"beta-2-glycoprotein I"	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.447G>A	17.37:g.64216829C>T			B2R9M3|Q9UCN7	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T149	ENST00000205948.6	37	c.447	CCDS11663.1	17																																																																																			APOH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000091583		0.393	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	-	0	24	0	C	NM_000042		64216829	-1	tier1	-	no_errors	ENST00000205948	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.001	T	T	64216829	C	T	64216829	2	4	91	1	0	0	0	0	0	0	0	1	804	523	19	1		1	APOH	17	64216829	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1361126	64216829	16978381	433	26506											
KIF19	124602	genome.wustl.edu	37	chr17	72339240	72339240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctcaacgacctcttcCgtgccatcgaggagaccagc	10	6	9	16	3	2	2	1	0	1	2	4	5	3	2	5	1	3	0	5	1	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:72339240C>A	ENST00000389916.4	+	5	535	c.397C>A	c.(397-399)Cgt>Agt	p.R133S		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	133	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.R133C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGACCTCTTCCGTGCCATCGA	0.592																																																	1	Substitution - Missense(1)	breast(1)											99	76	84					17																	72339240		2203	4300	6503	SO:0001583	missense	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"Kinesins"	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.397C>A	17.37:g.72339240C>A	ENSP00000374566:p.Arg133Ser		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R133S	ENST00000389916.4	37	c.397	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	C	6.468	0.454572	0.12283	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74421	-0.62;-0.84	5.48	2.25	0.28309	Kinesin, motor domain (4);	.	.	.	.	T	0.47967	0.1474	N	0.03324	-0.35	0.31417	N	0.674746	B;B;B;B	0.16802	0.019;0.004;0.003;0.0	B;B;B;B	0.23852	0.049;0.021;0.017;0.008	T	0.46978	-0.9152	9	0.25751	T	0.34	.	5.7653	0.18224	0.2671:0.5834:0.0:0.1495	.	133;133;133;133	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	S	133	ENSP00000449134:R133S;ENSP00000374566:R133S	ENSP00000374566:R133S	R	+	1	0	KIF19	69850835	0.603000	0.26924	0.626000	0.29213	0.281000	0.26958	1.133000	0.31430	0.645000	0.30675	0.556000	0.70494	CGT	KIF19	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000196169		0.592	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2		0	45	0	C	NM_153209		72339240	1			no_errors	ENST00000389916	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.723	A	A	72339240	C	A	72339240	3	1	91	1	0	0	0	0	1	0	0	0	8309	652	23	2	415	2	KIF19	17	72339240	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	8122411	72339240	8855970	434	26507											
USH1G	124590	genome.wustl.edu	37	chr17	72915838	72915838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctccccacagctgcggtCctgcaggctgttggcactgc	4	9	11	17	1	0	0	0	0	0	0	3	0	3	0	4	3	4	5	4	3	0	1	rs538983393		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr17:72915838C>T	ENST00000319642.1	-	2	1275	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	365					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGCTGCGGTCCTGCAGGCTG	0.682													C|||	1	0.000199681	0	0	5008	,	,		15423	0.001		0	False		,,,				2504	0																0													35	39	37					17																	72915838		2203	4300	6503	SO:0001583	missense	0			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1093G>A	17.37:g.72915838C>T	ENSP00000320076:p.Asp365Asn		Q8N251	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D365N	ENST00000319642.1	37	c.1093	CCDS32725.1	17	.	.	.	.	.	.	.	.	.	.	C	19.07	3.756357	0.69648	.	.	ENSG00000182040	ENST00000319642	T	0.70516	-0.49	4.53	4.53	0.55603	.	0.249503	0.39146	N	0.001445	T	0.53753	0.1816	N	0.08118	0	0.48830	D	0.999716	B	0.23735	0.09	B	0.24155	0.051	T	0.53892	-0.8374	10	0.44086	T	0.13	-16.3974	17.5258	0.87800	0.0:1.0:0.0:0.0	.	365	Q495M9	USH1G_HUMAN	N	365	ENSP00000320076:D365N	ENSP00000320076:D365N	D	-	1	0	USH1G	70427433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.612000	0.82975	2.383000	0.81215	0.555000	0.69702	GAC	USH1G	-	NULL	ENSG00000182040		0.682	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	-	0	26	0	C	NM_173477		72915838	-1	tier1	-	no_errors	ENST00000319642	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T	T	72915838	C	T	72915838	3	4	91	1	0	0	0	0	1	0	0	0	17084	855	30	3	300	3	USH1G	17	72915838	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	576598	72915838	8279372	435	26508											
COLEC12	81035	genome.wustl.edu	37	chr18	334900	334900	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcaccccaggctccccaAcggtgccctgaagtccctgg	7	5	11	18	1	0	1	0	1	0	0	2	1	2	1	6	4	2	2	6	4	2	0	rs531789462		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr18:334900A>T	ENST00000400256.3	-	6	1865	c.1658T>A	c.(1657-1659)gTt>gAt	p.V553D		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	553	Collagen-like 3.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)	p.V553A(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				AGGCTCCCCAACGGTGCCCTG	0.736																																																	1	Substitution - Missense(1)	lung(1)											9	12	11					18																	334900		2169	4234	6403	SO:0001583	missense	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1658T>A	18.37:g.334900A>T	ENSP00000383115:p.Val553Asp		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V553D	ENST00000400256.3	37	c.1658	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	A	6.059	0.379234	0.11466	.	.	ENSG00000158270	ENST00000400256	D	0.93307	-3.2	5.53	5.53	0.82687	.	0.386506	0.30338	N	0.009849	D	0.83348	0.5235	N	0.05534	-0.03	0.52099	D	0.999947	B	0.33413	0.411	B	0.37015	0.239	T	0.79082	-0.1949	10	0.14656	T	0.56	-17.4248	6.1608	0.20364	0.7813:0.0:0.0751:0.1436	.	553	Q5KU26	COL12_HUMAN	D	553	ENSP00000383115:V553D	ENSP00000383115:V553D	V	-	2	0	COLEC12	324900	0.008000	0.16893	0.899000	0.35326	0.015000	0.08874	1.900000	0.39828	2.094000	0.63399	0.459000	0.35465	GTT	COLEC12	-	pfam_Collagen	ENSG00000158270		0.736	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1		0	60	0	A			334900	-1			no_errors	ENST00000400256	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.692	T	T	334900	A	T	334900	3	4	91	1	0	0	0	0	1	0	0	0	3719	43	2	5	590	5	COLEC12	18	334900	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09		334900	77742348	436	26509											
ANKRD12	23253	genome.wustl.edu	37	chr18	9257391	9257391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaacttctccaactggaGcttcaaacagcaagtatgtt	12	12	7	10	0	2	0	1	0	1	0	3	1	2	1	1	1	6	5	1	1	5	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr18:9257391G>A	ENST00000262126.4	+	9	4366	c.4126G>A	c.(4126-4128)Gct>Act	p.A1376T	ANKRD12_ENST00000383440.2_Missense_Mutation_p.A1353T|RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000400020.3_Missense_Mutation_p.A1353T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1376						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCCAACTGGAGCTTCAAACAG	0.413																																																	0													85	84	84					18																	9257391		2203	4300	6503	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.4126G>A	18.37:g.9257391G>A	ENSP00000262126:p.Ala1376Thr		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A1376T	ENST00000262126.4	37	c.4126	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	3.267	-0.149862	0.06585	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.66638	-0.22;-0.22	5.75	0.577	0.17385	.	0.516425	0.20343	N	0.094200	T	0.42426	0.1202	N	0.14661	0.345	0.22240	N	0.999263	B;B	0.22683	0.073;0.044	B;B	0.24394	0.053;0.014	T	0.30679	-0.9970	10	0.66056	D	0.02	-5.6506	2.9866	0.05970	0.1268:0.1261:0.4696:0.2775	.	1353;1376	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	T	1353;1376	ENSP00000372932:A1353T;ENSP00000262126:A1376T	ENSP00000262126:A1376T	A	+	1	0	ANKRD12	9247391	0.004000	0.15560	0.532000	0.27989	0.006000	0.05464	-0.574000	0.05868	0.079000	0.16929	-0.262000	0.10625	GCT	ANKRD12	-	NULL	ENSG00000101745		0.413	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2		0	25	0	G	NM_015208		9257391	1			no_errors	ENST00000262126	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.574	A	A	9257391	G	A	9257391	3	1	91	1	0	0	0	0	1	0	0	0	640	971	34	3	4156	3	ANKRD12	18	9257391	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	8922491	9257391	68819857	437	26510											
OSBPL1A	114876	genome.wustl.edu	37	chr18	21746571	21746571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttccatggctctgatGtcaggccgtaacctgcagtc	7	12	9	13	1	2	1	1	1	1	0	4	1	3	1	4	2	2	3	4	2	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr18:21746571G>T	ENST00000319481.3	-	26	2837	c.2631C>A	c.(2629-2631)gaC>gaA	p.D877E	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.D495E|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.D364E	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	877					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGGCTCTGATGTCAGGCCGTA	0.433																																																	0													218	191	200					18																	21746571		2203	4300	6503	SO:0001583	missense	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"Oxysterol binding proteins", "Ankyrin repeat domain containing"	16398	protein-coding gene	gene with protein product		606730	"oxysterol binding protein-like 1B"	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2631C>A	18.37:g.21746571G>T	ENSP00000320291:p.Asp877Glu		B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.D877E	ENST00000319481.3	37	c.2631	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849882	0.32699	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.38240	1.15;1.15;1.15	5.5	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71384	-0.4609	10	0.87932	D	0	-34.2715	8.3085	0.32058	0.552:0.0:0.448:0.0	.	877	Q9BXW6	OSBL1_HUMAN	E	877;364;495	ENSP00000320291:D877E;ENSP00000382372:D364E;ENSP00000349545:D495E	ENSP00000320291:D877E	D	-	3	2	OSBPL1A	20000569	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.740000	0.26188	0.325000	0.23359	0.585000	0.79938	GAC	OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.433	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	-	0	45	0	G	NM_080597		21746571	-1	tier1	-	no_errors	ENST00000319481	ensembl	human	known	74_37	missense	12.82	34	5	SNP	0.998	T	T	21746571	G	T	21746571	3	4	91	1	0	0	0	0	1	0	0	0	11316	1368	48	3	233	3	OSBPL1A	18	21746571	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	12489180	21746571	56330677	438	26511											
DSC2	1824	genome.wustl.edu	37	chr18	28662987	28662987	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaatactgaccatccaTgtcttgtacttttattttca	12	16	3	10	0	2	1	1	1	1	0	3	1	3	1	3	0	2	1	3	0	5	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr18:28662987T>G	ENST00000280904.6	-	8	1425	c.982A>C	c.(982-984)Atg>Ctg	p.M328L	DSC2_ENST00000251081.6_Missense_Mutation_p.M328L	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	328	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGACCATCCATGTCTTGTACT	0.313																																																	0													104	99	101					18																	28662987		2203	4300	6503	SO:0001583	missense	0			X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"Cadherins / Major cadherins"	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.982A>C	18.37:g.28662987T>G	ENSP00000280904:p.Met328Leu			Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin	p.M328L	ENST00000280904.6	37	c.982	CCDS11892.1	18	.	.	.	.	.	.	.	.	.	.	T	18.54	3.645672	0.67358	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.50001	0.76;0.76	5.41	5.41	0.78517	Cadherin (5);Cadherin-like (1);	0.000000	0.39020	N	0.001482	T	0.58892	0.2154	M	0.62154	1.92	0.54753	D	0.999983	P;P	0.51537	0.946;0.933	P;P	0.53689	0.732;0.612	T	0.63721	-0.6573	10	0.87932	D	0	.	14.4409	0.67318	0.0:0.0:0.0:1.0	.	328;328	Q02487;Q02487-2	DSC2_HUMAN;.	L	328;328;94;341	ENSP00000251081:M328L;ENSP00000280904:M328L	ENSP00000251081:M328L	M	-	1	0	DSC2	26916985	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	3.519000	0.53458	2.058000	0.61347	0.533000	0.62120	ATG	DSC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000134755		0.313	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC2	HGNC	protein_coding	OTTHUMT00000254943.1	-	0	49	0	T	NM_004949		28662987	-1	tier1	-	no_errors	ENST00000280904	ensembl	human	known	74_37	missense	16.67	40	8	SNP	1.000	G	G	28662987	T	G	28662987	3	3	91	1	0	0	0	0	1	0	0	0	4780	1464	51	4	1799	4	DSC2	18	28662987	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	6916416	28662987	49414261	439	26512											
CDH7	1005	genome.wustl.edu	37	chr18	63530073	63530073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcgtagcccagacctgcaAtgcagaggcctatgtcctac	9	7	11	14	2	0	2	0	0	0	2	1	2	1	2	4	2	4	3	4	2	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr18:63530073A>G	ENST00000397968.2	+	11	2210	c.1784A>G	c.(1783-1785)aAt>aGt	p.N595S	CDH7_ENST00000536984.2_Missense_Mutation_p.N595S|RP11-389J22.1_ENST00000581987.1_RNA|CDH7_ENST00000323011.3_Missense_Mutation_p.N595S	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	595	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.			AQTCNAEAYV -> TQTAMQRLC (in Ref. 1; CAC13127). {ECO:0000305}.	adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGACCTGCAATGCAGAGGCC	0.542																																																	0													116	96	103					18																	63530073		2203	4300	6503	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"Cadherins / Major cadherins"	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1784A>G	18.37:g.63530073A>G	ENSP00000381058:p.Asn595Ser		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N595S	ENST00000397968.2	37	c.1784	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	A	9.525	1.109243	0.20714	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.54071	0.59;0.61;0.59	5.37	5.37	0.77165	Cadherin (1);	0.162254	0.53938	D	0.000046	T	0.40347	0.1113	L	0.35793	1.09	0.36668	D	0.87831	B;B	0.10296	0.003;0.0	B;B	0.13407	0.009;0.001	T	0.41520	-0.9504	10	0.23302	T	0.38	.	9.8238	0.40899	0.923:0.0:0.077:0.0	.	595;595	F5H5X9;Q9ULB5	.;CADH7_HUMAN	S	595	ENSP00000319166:N595S;ENSP00000443030:N595S;ENSP00000381058:N595S	ENSP00000319166:N595S	N	+	2	0	CDH7	61681053	0.994000	0.37717	0.977000	0.42913	0.581000	0.36288	3.008000	0.49544	2.044000	0.60594	0.482000	0.46254	AAT	CDH7	-	pfscan_Cadherin	ENSG00000081138		0.542	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0	22	0	A	NM_033646		63530073	1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	40.00	6	4	SNP	0.984	G	G	63530073	A	G	63530073	3	3	91	1	0	0	0	0	1	0	0	0	3122	101	4	4	1822	4	CDH7	18	63530073	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	34867086	63530073	14547175	440	26513											
ATP8B3	148229	genome.wustl.edu	37	chr19	1802537	1802537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgcgaatcctgcagcCtcggaggaggaggttgccaa	8	9	15	9	2	0	0	0	0	0	0	2	4	1	3	3	4	4	3	3	4	2	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:1802537C>T	ENST00000310127.6	-	11	1250	c.1012G>A	c.(1012-1014)Ggc>Agc	p.G338S	ATP8B3_ENST00000539485.1_Missense_Mutation_p.G338S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.G285S|ATP8B3_ENST00000526092.2_Missense_Mutation_p.G285S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	338					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTGCAGCCTCGGAGGAGG	0.567																																																	0													121	131	128					19																	1802537		2122	4239	6361	SO:0001583	missense	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1012G>A	19.37:g.1802537C>T	ENSP00000311336:p.Gly338Ser		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.G338S	ENST00000310127.6	37	c.1012	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	c	26.9	4.783741	0.90282	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591;ENST00000526092;ENST00000382339	D;D;D;D	0.94280	-3.39;-3.39;-3.39;-3.39	3.72	3.72	0.42706	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.055297	0.64402	N	0.000001	D	0.96904	0.8989	M	0.89163	3.01	0.46901	D	0.999243	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.928;0.989;0.999	D	0.97747	1.0212	10	0.87932	D	0	.	14.6992	0.69145	0.0:1.0:0.0:0.0	.	285;338;285	F5H3R9;O60423;Q7Z485	.;AT8B3_HUMAN;.	S	338;338;285;285;285	ENSP00000311336:G338S;ENSP00000443574:G338S;ENSP00000437115:G285S;ENSP00000445204:G285S	ENSP00000311336:G338S	G	-	1	0	ATP8B3	1753537	1.000000	0.71417	0.947000	0.38551	0.834000	0.47266	7.415000	0.80131	1.930000	0.55929	0.450000	0.29827	GGC	ATP8B3	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000130270		0.567	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0	75	0	C	NM_138813		1802537	-1	tier1	-	no_errors	ENST00000539485	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.998	T	T	1802537	C	T	1802537	3	4	91	1	0	0	0	0	1	0	0	0	1197	681	24	3	3014	3	ATP8B3	19	1802537	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09		1802537	57326446	441	26514											
MARCH2	51257	genome.wustl.edu	37	chr19	8503352	8503352	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgaagatccgggaggcGgacagccccgagggccccca	8	2	15	16	4	0	2	0	1	0	1	1	5	1	4	6	4	1	0	6	4	1	0	rs200360606		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:8503352G>T	ENST00000602117.1	+	5	1118	c.663G>T	c.(661-663)gcG>gcT	p.A221A	MARCH2_ENST00000393944.1_Silent_p.A221A|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Silent_p.A151A|MARCH2_ENST00000215555.2_Silent_p.A221A			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	221					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TCCGGGAGGCGGACAGCCCCG	0.617																																																	0													45	47	46					19																	8503352		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	28038	protein-coding gene	gene with protein product		613332	"membrane-associated ring finger (C3HC4) 2"			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.663G>T	19.37:g.8503352G>T			A6NP10|Q5H785|Q8N5A3|Q96B78	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.A221	ENST00000602117.1	37	c.663	CCDS12202.1	19																																																																																			MARCH2	-	NULL	ENSG00000099785		0.617	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH2	HGNC	protein_coding	OTTHUMT00000460361.2	-	0	62	0	G	NM_016496		8503352	1	tier1	-	no_errors	ENST00000215555	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.000	T	T	8503352	G	T	8503352	2	4	91	1	0	0	0	0	0	0	0	1	9339	1103	39	2		2	MARCH2	19	8503352	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	6700815	8503352	50625631	442	26515											
DOCK6	57572	genome.wustl.edu	37	chr19	11333578	11333578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgactggagccgcgtggCcacctgcaggagaggggtgg	7	4	20	10	3	0	1	0	0	0	1	0	5	0	3	3	7	2	1	3	7	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:11333578C>T	ENST00000294618.7	-	26	3084	c.3073G>A	c.(3073-3075)Gcc>Acc	p.A1025T	DOCK6_ENST00000319867.7_Missense_Mutation_p.A364T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1025					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AGCCGCGTGGCCACCTGCAGG	0.622																																																	0													26	34	31					19																	11333578		2169	4252	6421	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3073G>A	19.37:g.11333578C>T	ENSP00000294618:p.Ala1025Thr		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.A1025T	ENST00000294618.7	37	c.3073	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551416	0.27739	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.23147	1.92;1.92	4.81	2.39	0.29439	.	0.354959	0.25464	N	0.030487	T	0.09069	0.0224	N	0.05280	-0.08	0.37953	D	0.932727	B;B	0.09022	0.001;0.002	B;B	0.11329	0.003;0.006	T	0.22626	-1.0211	10	0.17832	T	0.49	-24.1274	3.2307	0.06747	0.4256:0.409:0.0:0.1654	.	364;1025	C9IZV6;Q96HP0	.;DOCK6_HUMAN	T	1025;364	ENSP00000294618:A1025T;ENSP00000321556:A364T	ENSP00000294618:A1025T	A	-	1	0	DOCK6	11194578	0.676000	0.27567	1.000000	0.80357	0.730000	0.41778	-0.069000	0.11542	2.229000	0.72834	0.491000	0.48974	GCC	DOCK6	-	NULL	ENSG00000130158		0.622	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	-	0	24	0	C	NM_020812		11333578	-1	tier1	-	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.999	T	T	11333578	C	T	11333578	3	4	91	1	0	0	0	0	1	0	0	0	4705	739	26	3	3162	3	DOCK6	19	11333578	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2830226	11333578	47795405	443	26516											
MAN2B1	4125	genome.wustl.edu	37	chr19	12760814	12760814	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaacggctgatgacctccTtcccccaggtgtcgctgtac	8	9	9	15	2	0	2	0	2	0	0	3	2	2	2	4	2	2	3	4	2	3	2	rs201318291		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:12760814T>A	ENST00000456935.2	-	18	2220	c.2180A>T	c.(2179-2181)aAg>aTg	p.K727M	CTD-2192J16.22_ENST00000597692.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.K726M	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	727					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATGACCTCCTTCCCCCAGGT	0.592																																																	0													207	186	193					19																	12760814		2203	4300	6503	SO:0001583	missense	0				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2180A>T	19.37:g.12760814T>A	ENSP00000395473:p.Lys727Met		G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.K727M	ENST00000456935.2	37	c.2180	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	T	20.7	4.038182	0.75617	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	D;D	0.82433	-1.61;-1.61	5.13	5.13	0.70059	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.134780	0.34291	N	0.004087	D	0.91768	0.7396	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92827	0.6277	10	0.62326	D	0.03	-41.2834	12.9397	0.58335	0.0:0.0:0.0:1.0	.	726;727	G5E928;O00754	.;MA2B1_HUMAN	M	727;666;726	ENSP00000395473:K727M;ENSP00000221363:K726M	ENSP00000221363:K726M	K	-	2	0	MAN2B1	12621814	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.319000	0.79040	2.166000	0.68216	0.454000	0.30748	AAG	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom	ENSG00000104774		0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1		0	50	0	T			12760814	-1			no_errors	ENST00000456935	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	A	A	12760814	T	A	12760814	3	1	91	1	0	0	0	0	1	0	0	0	9254	1609	56	5	883	5	MAN2B1	19	12760814	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	1427236	12760814	46368169	444	26517											
MAST1	22983	genome.wustl.edu	37	chr19	12981985	12981985	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaaggagggccaggagAggtgggcacagccgtaaaca	12	2	16	11	2	0	1	0	0	0	1	0	3	0	2	4	5	2	2	4	5	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:12981985A>G	ENST00000251472.4	+	24	3301	c.3262A>G	c.(3262-3264)Agc>Ggc	p.S1088G	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGGCCAGGAGAGGTGGGCACA	0.587																																																	0													41	42	42					19																	12981985		2203	4300	6503	SO:0001630	splice_region_variant	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3263+1A>G	19.37:g.12981985A>G				Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.S1088G	ENST00000251472.4	37	c.3262	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	A	16.65	3.182383	0.57800	.	.	ENSG00000105613	ENST00000251472	T	0.67865	-0.29	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.64438	0.2598	M	0.72118	2.19	0.47276	D	0.999374	B	0.30634	0.288	B	0.27170	0.077	T	0.67090	-0.5758	10	0.56958	D	0.05	-26.9965	12.3753	0.55277	1.0:0.0:0.0:0.0	.	1088	Q9Y2H9	MAST1_HUMAN	G	1088	ENSP00000251472:S1088G	ENSP00000251472:S1088G	S	+	1	0	MAST1	12842985	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.333000	0.65917	1.807000	0.52817	0.379000	0.24179	AGC	MAST1	-	NULL	ENSG00000105613		0.587	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2		0	66	0	A	NM_014975	Missense_Mutation	12981985	1			no_errors	ENST00000251472	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	G	G	12981985	A	G	12981985	5	3	91	1	0	0	0	0	0	0	1	0	9362	318	11	4	3356	4	MAST1	19	12981985	Splice_Site	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	221171	12981985	46146998	445	26518											
CYP4F22	126410	genome.wustl.edu	37	chr19	15640544	15640544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaaatgaggcgggccttCaagatgagaagaaggtactg	13	8	13	7	1	1	4	1	2	0	3	2	5	2	4	2	3	1	1	2	3	5	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:15640544C>A	ENST00000269703.3	+	4	446	c.247C>A	c.(247-249)Caa>Aaa	p.Q83K	CYP4F22_ENST00000601005.2_Missense_Mutation_p.Q83K	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	83						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCGGGCCTTCAAGATGAGAA	0.552																																																	0													126	98	107					19																	15640544		2203	4300	6503	SO:0001583	missense	0				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"Cytochrome P450s"	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.247C>A	19.37:g.15640544C>A	ENSP00000269703:p.Gln83Lys		Q8N8H4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.Q83K	ENST00000269703.3	37	c.247	CCDS12331.1	19	.	.	.	.	.	.	.	.	.	.	C	0.279	-0.987793	0.02162	.	.	ENSG00000171954	ENST00000269703	D	0.87491	-2.26	5.37	1.75	0.24633	.	0.567797	0.18151	N	0.150087	T	0.67702	0.2921	N	0.05574	-0.02	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.52563	-0.8559	10	0.05959	T	0.93	.	8.1378	0.31064	0.4533:0.3996:0.1471:0.0	.	83	Q6NT55	CP4FN_HUMAN	K	83	ENSP00000269703:Q83K	ENSP00000269703:Q83K	Q	+	1	0	CYP4F22	15501544	0.004000	0.15560	0.010000	0.14722	0.317000	0.28152	0.865000	0.27940	0.592000	0.29728	0.462000	0.41574	CAA	CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000171954		0.552	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	-	0	73	0	C	NM_173483		15640544	1	tier1	-	no_errors	ENST00000269703	ensembl	human	known	74_37	missense	26.92	37	14	SNP	0.043	A	A	15640544	C	A	15640544	3	1	91	1	0	0	0	0	1	0	0	0	4198	827	29	3	253	3	CYP4F22	19	15640544	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2658559	15640544	43488439	446	26519											
ARRDC2	27106	genome.wustl.edu	37	chr19	18119552	18119552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacgctgcctcctgggCgccatgagttcctgttcagc	5	9	11	16	3	1	1	1	1	0	0	3	2	3	1	5	1	2	3	5	1	0	2	rs369910146		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:18119552C>T	ENST00000222250.4	+	2	450	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	ARRDC2_ENST00000379656.3_Missense_Mutation_p.R98C|ARRDC2_ENST00000608009.1_3'UTR	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	103					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)		p.R98C(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GCCTCCTGGGCGCCATGAGTT	0.627																																																	1	Substitution - Missense(1)	pancreas(1)											65	67	67					19																	18119552		2203	4300	6503	SO:0001583	missense	0				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.307C>T	19.37:g.18119552C>T	ENSP00000222250:p.Arg103Cys		B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.R103C	ENST00000222250.4	37	c.307	CCDS12370.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.526736	0.96431	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.14640	2.49;2.49	4.38	1.85	0.25348	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.156505	0.53938	D	0.000043	T	0.37679	0.1012	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.19811	-1.0294	10	0.62326	D	0.03	-17.3192	6.4101	0.21686	0.4176:0.4468:0.1356:0.0	.	103;98	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	C	98;103	ENSP00000368977:R98C;ENSP00000222250:R103C	ENSP00000222250:R103C	R	+	1	0	ARRDC2	17980552	1.000000	0.71417	0.457000	0.27056	0.982000	0.71751	5.317000	0.65822	0.962000	0.38057	0.561000	0.74099	CGC	ARRDC2	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000105643		0.627	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC2	HGNC	protein_coding	OTTHUMT00000466845.1	-	0	29	0	C	NM_015683		18119552	1	tier1	-	no_errors	ENST00000222250	ensembl	human	known	74_37	missense	50.00	8	8	SNP	0.989	T	T	18119552	C	T	18119552	3	4	91	1	0	0	0	0	1	0	0	0	984	768	27	1	576	1	ARRDC2	19	18119552	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2479008	18119552	41009431	447	26520											
ATP13A1	57130	genome.wustl.edu	37	chr19	19757091	19757091	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaagaactggagcatgacGgtgaggatggtgtacaggtt	13	8	15	5	1	0	3	0	2	0	1	0	5	0	5	0	5	3	3	0	5	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:19757091G>C	ENST00000357324.6	-	23	3197	c.3171C>G	c.(3169-3171)acC>acG	p.T1057T	GMIP_ENST00000445806.2_5'Flank|GMIP_ENST00000203556.4_5'Flank|ATP13A1_ENST00000291503.5_Silent_p.T939T|GMIP_ENST00000587238.1_5'Flank	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1057						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAGCATGACGGTGAGGATGG	0.607																																					Esophageal Squamous(142;920 1789 9047 14684 24777)												0													205	199	201					19																	19757091		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"ATPases / P-type"	24215	protein-coding gene	gene with protein product	"cation transporting ATPase"		"ATPase type 13A"	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3171C>G	19.37:g.19757091G>C			B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.T1057	ENST00000357324.6	37	c.3171	CCDS32970.2	19																																																																																			ATP13A1	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000105726		0.607	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A1	HGNC	protein_coding	OTTHUMT00000329005.1	-	0	58	0	G	NM_020410		19757091	-1	tier1	-	no_errors	ENST00000357324	ensembl	human	known	74_37	silent	21.43	22	6	SNP	0.923	C	C	19757091	G	C	19757091	2	2	91	1	0	0	0	0	0	0	0	1	1124	1103	39	5		5	ATP13A1	19	19757091	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1637539	19757091	39371892	448	26521											
ZNF98	148198	genome.wustl.edu	37	chr19	22574641	22574641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaaaagctttgccacattCttcacatttgtagggtttct	9	17	7	8	0	3	0	1	0	2	0	3	0	3	0	1	1	2	4	1	1	3	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:22574641C>T	ENST00000357774.5	-	4	1517	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGCCACATTCTTCACATTTG	0.373																																																	0													24	21	22					19																	22574641		1500	3319	4819	SO:0001583	missense	0				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"Zinc fingers, C2H2-type", "-"	13174	protein-coding gene	gene with protein product	"zinc finger protein 739"	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.1396G>A	19.37:g.22574641C>T	ENSP00000350418:p.Glu466Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E466K	ENST00000357774.5	37	c.1396	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	8.588	0.883830	0.17467	.	.	ENSG00000197360	ENST00000357774	T	0.35605	1.3	1.26	-2.53	0.06326	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29288	0.0729	L	0.42581	1.335	0.09310	N	1	P	0.39060	0.657	B	0.39935	0.314	T	0.29822	-0.9999	9	0.59425	D	0.04	.	9.0399	0.36311	0.0:0.4789:0.5211:0.0	.	466	A6NK75	ZNF98_HUMAN	K	466	ENSP00000350418:E466K	ENSP00000350418:E466K	E	-	1	0	ZNF98	22366481	0.000000	0.05858	0.014000	0.15608	0.092000	0.18411	-0.635000	0.05471	-0.229000	0.09854	0.289000	0.19496	GAA	ZNF98	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197360		0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	-	0	60	0	C	NM_001098626		22574641	-1	tier1	-	no_errors	ENST00000357774	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.004	T	T	22574641	C	T	22574641	3	4	91	1	0	0	0	0	1	0	0	0	18251	922	32	3	326	3	ZNF98	19	22574641	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2817550	22574641	36554342	449	26522											
GAPDHS	26330	genome.wustl.edu	37	chr19	36027767	36027767	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagtagagccccagccAcaaccagagcccacaccagt	13	3	9	16	0	0	3	0	1	0	2	0	3	0	3	6	0	4	2	6	0	3	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:36027767A>G	ENST00000222286.4	+	2	236	c.120A>G	c.(118-120)ccA>ccG	p.P40P		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	40	Testis-specific N-terminal extension.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGCCCCAGCCACAACCAGAGC	0.602																																																	0													232	204	214					19																	36027767		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.120A>G	19.37:g.36027767A>G			B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.P40	ENST00000222286.4	37	c.120	CCDS12465.1	19																																																																																			GAPDHS	-	NULL	ENSG00000105679		0.602	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	-	0	63	0	A	NM_014364		36027767	1	tier1	-	no_errors	ENST00000222286	ensembl	human	known	74_37	silent	12.00	44	6	SNP	0.000	G	G	36027767	A	G	36027767	2	3	91	1	0	0	0	0	0	0	0	1	6262	146	6	4		4	GAPDHS	19	36027767	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	13453126	36027767	23101216	450	26523											
TMEM147	10430	genome.wustl.edu	37	chr19	36038043	36038043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattacatcgtcgcgtctgCtcaggtctggatgataacac	9	11	9	12	3	3	1	1	1	2	0	5	2	3	2	1	2	3	1	1	2	2	2	rs376027515		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:36038043C>A	ENST00000222284.5	+	6	597	c.452C>A	c.(451-453)gCt>gAt	p.A151D	TMEM147_ENST00000392204.2_Missense_Mutation_p.A102D|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000392205.1_Missense_Mutation_p.A151D|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_032635.3	NP_116024.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	151						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCGCGTCTGCTCAGGTCTGG	0.552																																																	0													154	134	141					19																	36038043		2203	4300	6503	SO:0001583	missense	0			BC001118	CCDS12466.1, CCDS56091.1	19q13.12	2010-08-13			ENSG00000105677	ENSG00000105677			30414	protein-coding gene	gene with protein product		613585				20538592	Standard	NM_032635		Approved	NIFIE14, MGC1936	uc002oaj.2	Q9BVK8	OTTHUMG00000048105	ENST00000222284.5:c.452C>A	19.37:g.36038043C>A	ENSP00000222284:p.Ala151Asp		A8MWW0|O75790	Missense_Mutation	SNP	pfam_DUF2053_membrane	p.A151D	ENST00000222284.5	37	c.452	CCDS12466.1	19	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865228	0.91511	.	.	ENSG00000105677	ENST00000392204;ENST00000222284;ENST00000392205	T;T;T	0.46063	0.88;0.88;0.88	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.72894	2.215	0.80722	D	1	D;P	0.89917	1.0;0.934	D;P	0.79784	0.993;0.559	T	0.64407	-0.6415	10	0.51188	T	0.08	.	17.1814	0.86856	0.0:1.0:0.0:0.0	.	102;151	A8MWW0;Q9BVK8	.;TM147_HUMAN	D	102;151;151	ENSP00000376040:A102D;ENSP00000222284:A151D;ENSP00000376041:A151D	ENSP00000222284:A151D	A	+	2	0	TMEM147	40729883	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	6.846000	0.75399	2.659000	0.90383	0.655000	0.94253	GCT	TMEM147	-	pfam_DUF2053_membrane	ENSG00000105677		0.552	TMEM147-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM147	HGNC	protein_coding	OTTHUMT00000109469.2	-	0	41	0	C	NM_032635		36038043	1	tier1	-	no_errors	ENST00000222284	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	A	A	36038043	C	A	36038043	3	1	91	1	0	0	0	0	1	0	0	0	16108	797	28	3	474	3	TMEM147	19	36038043	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	10276	36038043	23090940	451	26524											
MAP3K10	4294	genome.wustl.edu	37	chr19	40698370	40698370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcggagcaggtgtgccaGgaagcccggctctttggagc	8	6	16	11	2	1	0	0	0	1	0	1	3	1	3	2	5	5	2	2	5	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:40698370G>T	ENST00000253055.3	+	1	720	c.432G>T	c.(430-432)caG>caT	p.Q144H	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGGTGTGCCAGGAAGCCCGGC	0.657																																																	0													33	40	38					19																	40698370		2203	4300	6503	SO:0001583	missense	0			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6849	protein-coding gene	gene with protein product	"MKN28 kinase", "mixed lineage kinase 2", "MKN28 derived nonreceptor_type serine/threonine kinase"	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.432G>T	19.37:g.40698370G>T	ENSP00000253055:p.Gln144His		Q12761|Q14871	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.Q144H	ENST00000253055.3	37	c.432	CCDS12549.1	19	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942190	0.73672	.	.	ENSG00000130758	ENST00000253055	D	0.83075	-1.68	4.62	3.58	0.41010	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.136846	0.50627	D	0.000104	D	0.84665	0.5522	L	0.33137	0.985	0.58432	D	0.999995	P	0.45957	0.869	D	0.64877	0.93	D	0.85144	0.0982	10	0.87932	D	0	.	10.4784	0.44678	0.0952:0.0:0.9048:0.0	.	144	Q02779	M3K10_HUMAN	H	144	ENSP00000253055:Q144H	ENSP00000253055:Q144H	Q	+	3	2	MAP3K10	45390210	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.316000	0.33620	1.174000	0.42811	0.655000	0.94253	CAG	MAP3K10	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000130758		0.657	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	-	0	98	0	G	NM_002446		40698370	1	tier1	-	no_errors	ENST00000253055	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	40698370	G	T	40698370	3	4	91	1	0	0	0	0	1	0	0	0	9282	991	35	3	434	3	MAP3K10	19	40698370	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4660327	40698370	18430613	452	26525											
PVRL2	5819	genome.wustl.edu	37	chr19	45381749	45381751	+	Intron	DEL	GAG	GAG	-																															tggaaccagatggcaaggatGaggaggaggaggaggaggaa																								rs558397688	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082																0									,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG			A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.E441in_frame_del	ENST00000252483.5	37	c.1312_1314	CCDS42576.1	19																																																																																			PVRL2	-	NULL	ENSG00000130202		0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1		0	18	0	GAG	NM_002856		45381751	1	tier1		no_errors	ENST00000252485	ensembl	human	known	74_37	in_frame_del	15.38	11	2	DEL	0.686:0.659:0.301	-	-	45381751	GAG	-	45381749	6	5	91	0	1	1	0	1	0	0	0	0	12885	1291	45	0		0	PVRL2	19	45381749	Intron	DEL	GAG	TCGA-L5-A8NS-01A-12D-A37C-09	4683379	45381749	13747234	453	26526											
PRKD2	25865	genome.wustl.edu	37	chr19	47200420	47200420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggaggcttaccttataGtatctgttggtcgtgttgtt	5	16	12	8	2	1	0	0	0	1	0	2	1	1	1	2	3	1	5	2	3	4	7			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:47200420G>A	ENST00000291281.4	-	9	1536	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	PRKD2_ENST00000433867.1_Silent_p.Y437Y|PRKD2_ENST00000601806.1_Silent_p.Y280Y|PRKD2_ENST00000600194.1_Silent_p.Y280Y|PRKD2_ENST00000595515.1_Silent_p.Y437Y			Q9BZL6	KPCD2_HUMAN	protein kinase D2	437	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TTACCTTATAGTATCTGTTGG	0.532																																																	0													142	116	125					19																	47200420		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"Pleckstrin homology (PH) domain containing"	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1311C>T	19.37:g.47200420G>A			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.Y437	ENST00000291281.4	37	c.1311	CCDS12689.1	19																																																																																			PRKD2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000105287		0.532	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1		0	15	0	G	NM_016457		47200420	-1			no_errors	ENST00000291281	ensembl	human	known	74_37	silent	33.33	6	3	SNP	1.000	A	A	47200420	G	A	47200420	2	1	91	1	0	0	0	0	0	0	0	1	12561	1024	36	3		3	PRKD2	19	47200420	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1818671	47200420	11928563	454	26527											
SLC1A5	6510	genome.wustl.edu	37	chr19	47278775	47278775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccggggtttacatgaCtgattccttctcagaggcga	7	11	10	13	2	1	3	1	2	1	1	4	4	3	3	3	3	1	1	3	3	1	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:47278775C>T	ENST00000542575.2	-	8	2246	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	SLC1A5_ENST00000594991.1_Missense_Mutation_p.V364I|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000412532.2_Missense_Mutation_p.V312I|SLC1A5_ENST00000434726.2_Missense_Mutation_p.V338I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	540					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GTTTACATGACTGATTCCTTC	0.597																																																	0													77	88	84					19																	47278775		2203	4300	6503	SO:0001583	missense	0			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"Solute carriers"	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1618G>A	19.37:g.47278775C>T	ENSP00000444408:p.Val540Ile		A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V540I	ENST00000542575.2	37	c.1618	CCDS12692.1	19	.	.	.	.	.	.	.	.	.	.	c	15.42	2.828155	0.50845	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.65732	0.6;-0.17;-0.14	4.88	3.85	0.44370	.	0.092112	0.42294	D	0.000730	T	0.63581	0.2523	L	0.33485	1.01	0.30271	N	0.792227	D;P;D	0.61697	0.968;0.952;0.99	P;P;P	0.61397	0.632;0.724;0.888	T	0.62826	-0.6772	10	0.54805	T	0.06	-24.7449	8.7383	0.34541	0.0:0.824:0.0:0.176	.	338;540;540	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	I	540;338;312;547	ENSP00000444408:V540I;ENSP00000406532:V338I;ENSP00000397924:V312I	ENSP00000303623:V547I	V	-	1	0	SLC1A5	51970615	0.991000	0.36638	0.838000	0.33150	0.213000	0.24496	2.929000	0.48916	1.295000	0.44724	-0.273000	0.10243	GTC	SLC1A5	-	NULL	ENSG00000105281		0.597	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	-	0	48	0	C			47278775	-1	tier1	-	no_errors	ENST00000542575	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.981	T	T	47278775	C	T	47278775	3	4	91	1	0	0	0	0	1	0	0	0	14480	565	20	3	11	3	SLC1A5	19	47278775	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	78355	47278775	11850208	455	26528											
SCAF1	58506	genome.wustl.edu	37	chr19	50154128	50154128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccctgttcctttgcagtttCtccacagtcgaactcctcta	6	15	5	15	1	2	0	0	0	2	0	7	1	5	0	4	0	2	3	4	0	2	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:50154128C>G	ENST00000360565.3	+	7	606	c.482C>G	c.(481-483)tCt>tGt	p.S161C		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	161					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TTTGCAGTTTCTCCACAGTCG	0.677																																																	0													46	34	38					19																	50154128		2203	4299	6502	SO:0001583	missense	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.482C>G	19.37:g.50154128C>G	ENSP00000353769:p.Ser161Cys		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.S161C	ENST00000360565.3	37	c.482	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	c	10.60	1.396421	0.25205	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	T	0.35605	1.3	4.26	3.21	0.36854	.	0.417842	0.17869	N	0.159223	T	0.40886	0.1135	N	0.19112	0.55	0.28797	N	0.898994	D	0.89917	1.0	D	0.68353	0.957	T	0.23726	-1.0180	10	0.87932	D	0	-3.3222	10.0111	0.41986	0.0:0.8984:0.0:0.1016	.	161	Q9H7N4	SFR19_HUMAN	C	161	ENSP00000353769:S161C	ENSP00000353769:S161C	S	+	2	0	SCAF1	54845940	0.999000	0.42202	1.000000	0.80357	0.918000	0.54935	1.589000	0.36644	1.154000	0.42482	0.645000	0.84053	TCT	SCAF1	-	NULL	ENSG00000126461		0.677	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1		0	13	0	C	NM_021228		50154128	1			no_errors	ENST00000360565	ensembl	human	known	74_37	missense	57.14	3	4	SNP	1.000	G	G	50154128	C	G	50154128	3	3	91	1	0	0	0	0	1	0	0	0	13913	913	32	5	504	5	SCAF1	19	50154128	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2875353	50154128	8974855	456	26529											
KLK11	11012	genome.wustl.edu	37	chr19	51530735	51530735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtgagacctctgccCgatgacttccagtcccgcag	6	9	11	15	2	1	2	0	2	1	1	3	4	3	2	4	0	2	3	4	0	0	1	rs201833226		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:51530735C>T	ENST00000594768.1	-	1	224	c.39G>A	c.(37-39)tcG>tcA	p.S13S	KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000319720.7_Intron|KLK11_ENST00000391804.3_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK11_ENST00000453757.3_5'Flank|KLK11_ENST00000600362.1_5'Flank	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	13						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.S13S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GACCTCTGCCCGATGACTTCC	0.612																																																	1	Substitution - coding silent(1)	lung(1)						C	,,	1,4405	2.1+/-5.4	0,1,2202	90	92	91		,,39	-3.4	0	19		91	0,8600		0,0,4300	no	intron,intron,coding-synonymous	KLK11	NM_001167605.1,NM_006853.2,NM_144947.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	,,13/283	51530735	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"Kallikreins", "Serine peptidases / Serine peptidases"	6359	protein-coding gene	gene with protein product		604434	"kallikrein 11"	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.39G>A	19.37:g.51530735C>T			O75837|Q0WXX5|Q8IXD7|Q9NS65	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.S13	ENST00000594768.1	37	c.39	CCDS12818.1	19																																																																																			KLK11	-	NULL	ENSG00000167757		0.612	KLK11-002	KNOWN	basic|CCDS	protein_coding	KLK11	HGNC	protein_coding	OTTHUMT00000464314.2	-	0	84	0	C	NM_006853		51530735	-1	tier1	rs201833226	no_errors	ENST00000594768	ensembl	human	known	74_37	silent	32.39	48	23	SNP	0.000	T	T	51530735	C	T	51530735	2	4	91	1	0	0	0	0	0	0	0	1	8426	639	23	1		1	KLK11	19	51530735	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1376607	51530735	7598248	457	26530											
ZIM2	23619	genome.wustl.edu	37	chr19	57293467	57293467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcaaacaccagaaatgttCctaagtgtttgaagtccggg	12	10	9	10	1	1	2	1	1	0	1	3	2	3	2	4	1	1	2	4	1	4	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:57293467C>G	ENST00000391708.3	-	10	1042	c.500G>C	c.(499-501)gGa>gCa	p.G167A	ZIM2_ENST00000601070.1_Missense_Mutation_p.G167A|ZIM2_ENST00000599935.1_Missense_Mutation_p.G167A|ZIM2_ENST00000221722.5_Missense_Mutation_p.G167A|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.G167A|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CAGAAATGTTCCTAAGTGTTT	0.498																																																	0													141	121	128					19																	57293467		2203	4300	6503	SO:0001583	missense	0			AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"Zinc fingers, C2H2-type"	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.500G>C	19.37:g.57293467C>G	ENSP00000375589:p.Gly167Ala		Q2M3K1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G167A	ENST00000391708.3	37	c.500	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	C	4.923	0.171481	0.09391	.	.	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04194	3.68;3.68	5.21	0.582	0.17412	.	.	.	.	.	T	0.01523	0.0049	N	0.08118	0	.	.	.	P	0.46784	0.884	B	0.32211	0.142	T	0.34750	-0.9816	8	0.09338	T	0.73	.	3.6652	0.08253	0.1713:0.5425:0.0:0.2863	.	167	Q9NZV7	ZIM2_HUMAN	A	167	ENSP00000375589:G167A;ENSP00000221722:G167A	ENSP00000221722:G167A	G	-	2	0	ZIM2	61985279	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.449000	0.21744	0.119000	0.18210	0.655000	0.94253	GGA	ZIM2	-	NULL	ENSG00000269699		0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	HGNC	protein_coding	OTTHUMT00000416094.2	-	0	30	0	C			57293467	-1	tier1	-	no_errors	ENST00000221722	ensembl	human	known	74_37	missense	29.41	12	5	SNP	0.000	G	G	57293467	C	G	57293467	3	3	91	1	0	0	0	0	1	0	0	0	17732	855	30	5	1095	5	ZIM2	19	57293467	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	5762732	57293467	1835516	458	26531											
PEG3	5178	genome.wustl.edu	37	chr19	57327528	57327528	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttccttagtgggaatcTtctggttttcataggggtta	7	18	10	6	0	3	0	1	0	2	0	4	1	4	1	1	4	0	2	1	4	4	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:57327528T>G	ENST00000326441.9	-	10	2645	c.2282A>C	c.(2281-2283)aAg>aCg	p.K761T	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K637T|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K635T|PEG3_ENST00000423103.2_Missense_Mutation_p.K761T|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	761					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGTGGGAATCTTCTGGTTTTC	0.408																																																	0													165	162	163					19																	57327528		2203	4300	6503	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2282A>C	19.37:g.57327528T>G	ENSP00000326581:p.Lys761Thr		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K761T	ENST00000326441.9	37	c.2282	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458638	0.26248	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	4.16	-0.824	0.10812	.	0.609688	0.14777	N	0.299023	T	0.02970	0.0088	L	0.49778	1.585	.	.	.	B;B;B	0.17852	0.004;0.024;0.024	B;B;B	0.12156	0.003;0.007;0.007	T	0.21245	-1.0251	9	0.54805	T	0.06	-4.1014	4.5709	0.12208	0.0:0.3255:0.342:0.3325	.	637;761;696	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	T	761	ENSP00000326581:K761T;ENSP00000403051:K761T	ENSP00000326581:K761T	K	-	2	0	ZIM2	62019340	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-1.235000	0.02928	-0.218000	0.10018	0.438000	0.28831	AAG	PEG3	-	NULL	ENSG00000198300		0.408	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	45	0	T			57327528	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	34.48	19	10	SNP	0.000	G	G	57327528	T	G	57327528	3	3	91	1	0	0	0	0	1	0	0	0	11759	1609	56	4	2488	4	PEG3	19	57327528	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	34061	57327528	1801455	459	26532											
ZNF460	10794	genome.wustl.edu	37	chr19	57802868	57802868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaaggcttttatgagaGtacagccctcattcaacact	13	11	8	9	0	2	1	2	1	0	1	2	3	2	2	1	2	3	2	1	2	5	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:57802868G>A	ENST00000360338.3	+	3	1281	c.959G>A	c.(958-960)aGt>aAt	p.S320N	ZNF460_ENST00000537645.1_Missense_Mutation_p.S279N	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTTTATGAGAGTACAGCCCTC	0.478																																																	0													103	90	94					19																	57802868		2203	4300	6503	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.959G>A	19.37:g.57802868G>A	ENSP00000353491:p.Ser320Asn		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S320N	ENST00000360338.3	37	c.959	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673218	0.14776	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.15952	2.38;2.38	1.75	1.75	0.24633	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14570	0.0352	L	0.45228	1.405	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21042	-1.0257	9	0.24483	T	0.36	.	11.1318	0.48351	0.0:0.0:1.0:0.0	.	320	Q14592	ZN460_HUMAN	N	279;320	ENSP00000446167:S279N;ENSP00000353491:S320N	ENSP00000353491:S320N	S	+	2	0	ZNF460	62494680	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	-0.113000	0.10774	1.264000	0.44198	0.650000	0.86243	AGT	ZNF460	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197714		0.478	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	HGNC	protein_coding	OTTHUMT00000465727.1	-	0	40	0	G	NM_006635		57802868	1	tier1	-	no_errors	ENST00000360338	ensembl	human	known	74_37	missense	40.62	19	13	SNP	0.003	A	A	57802868	G	A	57802868	3	1	91	1	0	0	0	0	1	0	0	0	17972	1029	36	3	969	3	ZNF460	19	57802868	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	475340	57802868	1326115	460	26533											
ZNF749	388567	genome.wustl.edu	37	chr19	57955138	57955138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaagacttttgccacCaacatgggctgtttgagcac	10	10	12	9	0	0	2	0	1	0	1	0	3	0	3	2	2	3	3	2	2	2	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:57955138C>G	ENST00000334181.4	+	3	872	c.622C>G	c.(622-624)Caa>Gaa	p.Q208E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CTTTTGCCACCAACATGGGCT	0.468																																																	0													49	46	47					19																	57955138		2203	4300	6503	SO:0001583	missense	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.622C>G	19.37:g.57955138C>G	ENSP00000333980:p.Gln208Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q208E	ENST00000334181.4	37	c.622	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012240	0.35511	.	.	ENSG00000186230	ENST00000334181	T	0.27890	1.64	1.79	-3.17	0.05202	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11281	0.0275	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.32666	-0.9898	9	0.10636	T	0.68	.	0.7406	0.00973	0.4694:0.2038:0.1452:0.1817	.	208	O43361	ZN749_HUMAN	E	208	ENSP00000333980:Q208E	ENSP00000333980:Q208E	Q	+	1	0	ZNF749	62646950	0.000000	0.05858	0.000000	0.03702	0.482000	0.33219	-0.285000	0.08410	-0.889000	0.03950	0.305000	0.20034	CAA	ZNF749	-	pfscan_Znf_C2H2	ENSG00000186230		0.468	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	-	0	28	0	C	NM_001023561		57955138	1	tier1	-	no_errors	ENST00000334181	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.000	G	G	57955138	C	G	57955138	3	3	91	1	0	0	0	0	1	0	0	0	18179	595	21	5	632	5	ZNF749	19	57955138	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	152270	57955138	1173845	461	26534											
ZNF772	400720	genome.wustl.edu	37	chr19	57987094	57987094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagcctctgagcctcatCaaggagcacccactcctcct	9	7	8	17	0	3	1	2	1	1	0	5	3	5	3	5	2	3	1	5	2	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr19:57987094C>G	ENST00000343280.4	-	3	393	c.133G>C	c.(133-135)Gat>Cat	p.D45H	AC003005.2_ENST00000595422.1_lincRNA|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.D45H|AC004076.9_ENST00000596831.1_Missense_Mutation_p.D45H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TGAGCCTCATCAAGGAGCACC	0.557																																					Melanoma(5;289 436 14293 15924 30817)												0													204	176	186					19																	57987094		2203	4300	6503	SO:0001583	missense	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"Zinc fingers, C2H2-type", "-"	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.133G>C	19.37:g.57987094C>G	ENSP00000341165:p.Asp45His		A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D45H	ENST00000343280.4	37	c.133	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349389	0.61183	.	.	ENSG00000197128	ENST00000343280;ENST00000319969;ENST00000356584;ENST00000291809	T;T	0.02763	4.17;4.17	3.52	2.47	0.30058	Krueppel-associated box (4);	.	.	.	.	T	0.16471	0.0396	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00245	-1.1882	9	0.62326	D	0.03	.	6.8777	0.24156	0.0:0.8693:0.0:0.1307	.	45;45	A6NJK9;Q68DY9	.;ZN772_HUMAN	H	45;32;45;32	ENSP00000341165:D45H;ENSP00000348992:D45H	ENSP00000291809:D32H	D	-	1	0	ZNF772	62678906	0.398000	0.25279	1.000000	0.80357	0.994000	0.84299	1.509000	0.35780	0.815000	0.34398	0.585000	0.79938	GAT	ZNF772	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197128		0.557	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	HGNC	protein_coding	OTTHUMT00000397447.1		0	99	0	C	NM_001024596		57987094	-1			no_errors	ENST00000343280	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.999	G	G	57987094	C	G	57987094	3	3	91	1	0	0	0	0	1	0	0	0	18193	826	29	5	1348	5	ZNF772	19	57987094	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	31956	57987094	1141889	462	26535											
NOP56	10528	genome.wustl.edu	37	chr20	2638861	2638861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaagaggagccggtcaGcagtgggcctgaagaggcgg	10	4	17	10	2	1	3	1	1	0	2	2	4	2	4	3	5	2	1	3	5	2	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:2638861G>T	ENST00000329276.5	+	12	2222	c.1706G>T	c.(1705-1707)aGc>aTc	p.S569I	SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	569	Lys-rich.				cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GAGCCGGTCAGCAGTGGGCCT	0.488																																																	0													9	11	11					20																	2638861		2168	4269	6437	SO:0001583	missense	0			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"spinocerebellar ataxia 36"	614154	"nucleolar protein 5A (56kD with KKE/D repeat)", "nucleolar protein 5A (56kDa with KKE/D repeat)", "NOP56 ribonucleoprotein homolog (yeast)"	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1706G>T	20.37:g.2638861G>T	ENSP00000370589:p.Ser569Ile		Q2M3T6|Q9NQ05	Missense_Mutation	SNP	pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.S569I	ENST00000329276.5	37	c.1706	CCDS13030.1	20	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962210	0.18583	.	.	ENSG00000101361	ENST00000329276	T	0.58652	0.32	4.81	3.87	0.44632	.	0.544875	0.21889	N	0.067608	T	0.40932	0.1137	N	0.19112	0.55	0.25624	N	0.986368	P	0.36733	0.567	B	0.36608	0.229	T	0.38067	-0.9678	10	0.87932	D	0	-9.3594	8.8878	0.35414	0.1005:0.0:0.8995:0.0	.	569	O00567	NOP56_HUMAN	I	569	ENSP00000370589:S569I	ENSP00000370589:S569I	S	+	2	0	NOP56	2586861	1.000000	0.71417	0.877000	0.34402	0.012000	0.07955	3.700000	0.54786	1.266000	0.44231	-0.147000	0.13772	AGC	NOP56	-	NULL	ENSG00000101361		0.488	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2		0	48	0	G	NM_006392		2638861	1			no_errors	ENST00000329276	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.977	T	T	2638861	G	T	2638861	3	4	91	1	0	0	0	0	1	0	0	0	10578	971	34	3	1752	3	NOP56	20	2638861	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09		2638861	60386659	463	26536											
PAK7	57144	genome.wustl.edu	37	chr20	9561234	9561234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaaaggcttcacctcaGaatagtaggcctccccgtgc	10	10	8	13	1	3	1	3	0	0	1	4	1	4	1	4	2	1	2	4	2	4	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:9561234G>T	ENST00000378429.3	-	5	1094	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	PAK7_ENST00000353224.5_Missense_Mutation_p.S183Y|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Missense_Mutation_p.S183Y	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	183	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTTCACCTCAGAATAGTAGGC	0.458																																																	0													130	126	127					20																	9561234		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.548C>A	20.37:g.9561234G>T	ENSP00000367686:p.Ser183Tyr		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.S183Y	ENST00000378429.3	37	c.548	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534613	0.45073	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.44881	0.91;0.91;0.91	5.55	5.55	0.83447	.	0.270585	0.44285	D	0.000475	T	0.30198	0.0757	N	0.22421	0.69	0.31371	N	0.680158	B;B	0.22480	0.07;0.036	B;B	0.25140	0.058;0.023	T	0.21861	-1.0233	9	.	.	.	.	13.7685	0.63010	0.0731:0.0:0.9269:0.0	.	183;183	B0AZM9;Q9P286	.;PAK7_HUMAN	Y	183;183;183;131	ENSP00000367686:S183Y;ENSP00000322957:S183Y;ENSP00000367679:S183Y	.	S	-	2	0	PAK7	9509234	1.000000	0.71417	0.985000	0.45067	0.660000	0.38997	5.974000	0.70465	2.631000	0.89168	0.544000	0.68410	TCT	PAK7	-	NULL	ENSG00000101349		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1		0	57	0	G			9561234	-1			no_errors	ENST00000353224	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	9561234	G	T	9561234	3	4	91	1	0	0	0	0	1	0	0	0	11444	942	33	3	1639	3	PAK7	20	9561234	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	6922373	9561234	53464286	464	26537											
C20orf132	140699	genome.wustl.edu	37	chr20	35788510	35788510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatcacctgagatcagCgatggtgacaaagacctcct	11	8	11	11	1	2	3	2	2	0	2	3	5	3	3	3	2	1	1	3	2	1	0	rs373753414		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:35788510C>T	ENST00000400441.3	-	6	717	c.718G>A	c.(718-720)Gct>Act	p.A240T	MROH8_ENST00000441008.2_Missense_Mutation_p.A226T|MROH8_ENST00000217333.8_Missense_Mutation_p.A155T			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	160																	CTGAGATCAGCGATGGTGACA	0.517																																																	0													36	40	39					20																	35788510		1987	4157	6144	SO:0001583	missense	0			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"maestro heat-like repeat containing"	16125	protein-coding gene	gene with protein product	"hypothetical protein LOC140699"		"chromosome 20 open reading frame 131", "chromosome 20 open reading frame 132"	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.718G>A	20.37:g.35788510C>T	ENSP00000383291:p.Ala240Thr		Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A240T	ENST00000400441.3	37	c.718		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.020|0.020	-1.439044|-1.439044	0.01098|0.01098	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333;ENST00000434295;ENST00000422138|ENST00000421643	T;T;T|.	0.05447|.	3.44;3.44;3.44|.	5.51|5.51	-9.02|-9.02	0.00741|0.00741	.|.	0.738161|.	0.12946|.	N|.	0.426180|.	T|T	0.07683|0.07683	0.0193|0.0193	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	B;B;B|.	0.19073|.	0.019;0.018;0.033|.	B;B;B|.	0.12837|.	0.003;0.003;0.008|.	T|T	0.28299|0.28299	-1.0048|-1.0048	10|5	0.08837|.	T|.	0.75|.	-13.4513|-13.4513	5.2232|5.2232	0.15379|0.15379	0.1271:0.1301:0.1005:0.6422|0.1271:0.1301:0.1005:0.6422	.|.	240;160;250|.	E7ETR9;Q9H579;Q6PF12|.	.;CT132_HUMAN;.|.	T|H	226;240;155;10;10|276	ENSP00000392144:A226T;ENSP00000383291:A240T;ENSP00000217333:A155T|.	ENSP00000217333:A155T|.	A|R	-|-	1|2	0|0	C20orf132|C20orf132	35221924|35221924	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.050000|0.050000	0.14768|0.14768	-2.061000|-2.061000	0.01391|0.01391	-1.454000|-1.454000	0.01926|0.01926	-1.724000|-1.724000	0.00704|0.00704	GCT|CGC	MROH8	-	superfamily_ARM-type_fold	ENSG00000101353		0.517	MROH8-202	KNOWN	basic|appris_principal	protein_coding	MROH8	HGNC	protein_coding		-	0	52	0	C	NM_152503		35788510	-1	tier1	-	no_errors	ENST00000400441	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.001	T	T	35788510	C	T	35788510	3	4	91	1	0	0	0	0	1	0	0	0	2093	768	27	1	2498	1	C20orf132	20	35788510	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	26227276	35788510	27237010	465	26538											
RPN2	6185	genome.wustl.edu	37	chr20	35865066	35865066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatcctgggcagtgtgAcgtttctggctggcaatcgg	5	11	15	10	2	1	1	0	1	1	0	3	1	2	1	2	5	0	4	2	5	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:35865066A>G	ENST00000237530.6	+	16	2148	c.1837A>G	c.(1837-1839)Acg>Gcg	p.T613A	RPN2_ENST00000373622.5_Missense_Mutation_p.T581A|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	613					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GGGCAGTGTGACGTTTCTGGC	0.527																																																	0													121	98	106					20																	35865066		2203	4300	6503	SO:0001583	missense	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1837A>G	20.37:g.35865066A>G	ENSP00000237530:p.Thr613Ala		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	pfam_Swp1	p.T613A	ENST00000237530.6	37	c.1837	CCDS13291.1	20	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199487	0.79015	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000437329	T;T;T	0.52057	0.68;0.68;0.68	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63065	-0.6720	10	0.22109	T	0.4	-7.8054	12.7073	0.57067	1.0:0.0:0.0:0.0	.	581;613	Q5JYR6;P04844	.;RPN2_HUMAN	A	613;581;120;120	ENSP00000237530:T613A;ENSP00000362724:T581A;ENSP00000409580:T120A	ENSP00000237530:T613A	T	+	1	0	RPN2	35298480	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.761000	0.91691	2.099000	0.63709	0.379000	0.24179	ACG	RPN2	-	pfam_Swp1	ENSG00000118705		0.527	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	-	0	38	0	A	NM_002951		35865066	1	tier1	-	no_errors	ENST00000237530	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	G	G	35865066	A	G	35865066	3	3	91	1	0	0	0	0	1	0	0	0	13653	275	10	4	1899	4	RPN2	20	35865066	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	76556	35865066	27160454	466	26539											
L3MBTL	26013	genome.wustl.edu	37	chr20	42163487	42163487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccactttgatggctggaGtcatggctatgatttctgga	8	14	12	7	0	2	2	1	2	1	0	3	5	3	4	1	4	0	2	1	4	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:42163487G>T	ENST00000427442.2	+	16	1823	c.1664G>T	c.(1663-1665)aGt>aTt	p.S555I	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S555I|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.S487I|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.S487I|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.S487I			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	487					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GATGGCTGGAGTCATGGCTAT	0.592																																																	0													76	66	69					20																	42163487		2203	4300	6503	SO:0001583	missense	0			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"Zinc fingers, C2HC-type containing", "Sterile alpha motif (SAM) domain containing"	15905	protein-coding gene	gene with protein product	"lethal (3) malignant brain tumor l(3)"	608802	"l(3)mbt (Drosophila)-like", "l(3)mbt-like (Drosophila)"	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1664G>T	20.37:g.42163487G>T	ENSP00000402107:p.Ser555Ile		B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt	p.S555I	ENST00000427442.2	37	c.1664	CCDS46602.2	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.15|19.15	3.771463|3.771463	0.69992|0.69992	.|.	.|.	ENSG00000185513|ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133|ENST00000445228	T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;0.78|.	5.32|5.32	3.38|3.38	0.38709|0.38709	.|.	0.041025|.	0.85682|.	D|.	0.000000|.	T|T	0.73806|0.73806	0.3634|0.3634	M|M	0.83953|0.83953	2.67|2.67	0.45979|0.45979	D|D	0.998792|0.998792	D;D;D;D|.	0.76494|.	0.999;0.998;0.999;0.998|.	D;D;D;D|.	0.72982|.	0.96;0.945;0.979;0.973|.	T|T	0.74225|0.74225	-0.3734|-0.3734	10|5	0.52906|.	T|.	0.07|.	.|.	10.6909|10.6909	0.45870|0.45870	0.1564:0.0:0.8436:0.0|0.1564:0.0:0.8436:0.0	.|.	555;139;487;487|.	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1|.	.;.;.;.|.	I|F	555;555;487;487;487;273;139|178	ENSP00000402107:S555I;ENSP00000398516:S555I;ENSP00000362227:S487I;ENSP00000403316:S487I;ENSP00000362226:S487I;ENSP00000410139:S273I|.	ENSP00000362225:S139I|.	S|V	+|+	2|1	0|0	L3MBTL1|L3MBTL1	41596901|41596901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.564000|3.564000	0.53791|0.53791	0.815000|0.815000	0.34398|0.34398	0.655000|0.655000	0.94253|0.94253	AGT|GTC	L3MBTL1	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000185513		0.592	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	-	0	38	0	G	NM_032107		42163487	1	tier1	-	no_errors	ENST00000418998	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T	T	42163487	G	T	42163487	3	4	91	1	0	0	0	0	1	0	0	0	8619	1029	36	3	1510	3	L3MBTL	20	42163487	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	6298421	42163487	20862033	467	26540											
MYBL2	4605	genome.wustl.edu	37	chr20	42311443	42311443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttttcccagaaccgcactGaccagcaatgccagtacagg	11	8	8	14	1	1	2	0	1	1	1	2	2	2	2	4	1	4	3	4	1	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:42311443G>A	ENST00000217026.4	+	4	323	c.196G>A	c.(196-198)Gac>Aac	p.D66N	MYBL2_ENST00000396863.4_Missense_Mutation_p.D42N	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	66	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAACCGCACTGACCAGCAATG	0.517																																																	0													226	222	223					20																	42311443		2203	4300	6503	SO:0001583	missense	0				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.196G>A	20.37:g.42311443G>A	ENSP00000217026:p.Asp66Asn		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D66N	ENST00000217026.4	37	c.196	CCDS13322.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.379599	0.95945	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.14893	2.47;2.47	5.31	5.31	0.75309	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.097033	0.64402	D	0.000001	T	0.21227	0.0511	L	0.46741	1.465	0.58432	D	0.99999	P;P	0.51537	0.946;0.751	B;B	0.43536	0.41;0.423	T	0.00842	-1.1544	10	0.52906	T	0.07	-30.88	18.1318	0.89604	0.0:0.0:1.0:0.0	.	42;66	F8W6N6;P10244	.;MYBB_HUMAN	N	42;66	ENSP00000380072:D42N;ENSP00000217026:D66N	ENSP00000217026:D66N	D	+	1	0	MYBL2	41744857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.652000	0.98499	2.665000	0.90641	0.655000	0.94253	GAC	MYBL2	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000101057		0.517	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	-	0	61	0	G	NM_002466		42311443	1	tier1	-	no_errors	ENST00000217026	ensembl	human	known	74_37	missense	21.43	44	12	SNP	1.000	A	A	42311443	G	A	42311443	3	1	91	1	0	0	0	0	1	0	0	0	10048	1290	45	3	210	3	MYBL2	20	42311443	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	147956	42311443	20714077	468	26541											
SDC4	6385	genome.wustl.edu	37	chr20	43955992	43955992	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccttcttcttcatacggTacatgagcagtaggatcagg	10	12	9	10	1	4	1	2	1	2	0	5	2	5	2	1	3	3	3	1	3	3	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:43955992T>G	ENST00000372733.3	-	5	548	c.509A>C	c.(508-510)tAc>tCc	p.Y170S	SDC4_ENST00000537976.1_Missense_Mutation_p.Y98S	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	170					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CTTCATACGGTACATGAGCAG	0.537			T	ROS1	NSCLC																																			Dom	yes		20	20q12	6385	syndecan 4		E	0													112	98	103					20																	43955992		2203	4300	6503	SO:0001583	missense	0			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"Proteoglycans / Cell Surface : Syndecans"	10661	protein-coding gene	gene with protein product	"syndecan proteoglycan 4"	600017	"syndecan 4 (amphiglycan, ryudocan)"			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.509A>C	20.37:g.43955992T>G	ENSP00000361818:p.Tyr170Ser		O00773|Q16833|Q53FN9|Q6FGN3	Missense_Mutation	SNP	pfam_Syndecan/Neurexin_dom,smart_Neurexin-like	p.Y170S	ENST00000372733.3	37	c.509	CCDS13350.1	20	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503066	0.85176	.	.	ENSG00000124145	ENST00000372733;ENST00000537976	T	0.62941	-0.01	5.37	5.37	0.77165	Neurexin/syndecan/glycophorin C (1);	0.066178	0.64402	D	0.000007	T	0.80808	0.4694	M	0.84683	2.71	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	D	0.84321	0.0516	10	0.87932	D	0	-17.6537	14.5644	0.68165	0.0:0.0:0.0:1.0	.	170	P31431	SDC4_HUMAN	S	170;98	ENSP00000361818:Y170S	ENSP00000361818:Y170S	Y	-	2	0	SDC4	43389406	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	6.256000	0.72473	2.034000	0.60081	0.533000	0.62120	TAC	SDC4	-	pfam_Syndecan/Neurexin_dom,smart_Neurexin-like	ENSG00000124145		0.537	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC4	HGNC	protein_coding	OTTHUMT00000080515.1	-	0	25	0	T	NM_002999		43955992	-1	tier1	-	no_errors	ENST00000372733	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	G	G	43955992	T	G	43955992	3	3	91	1	0	0	0	0	1	0	0	0	13999	1638	57	4	91	4	SDC4	20	43955992	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	1644549	43955992	19069528	469	26542											
NCOA3	8202	genome.wustl.edu	37	chr20	46281290	46281290	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatcagtcctcagaaatgAagggctggccatcaggaaat	13	9	10	9	0	4	2	3	1	1	1	5	3	5	3	2	3	0	1	2	3	4	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:46281290A>T	ENST00000371998.3	+	21	4278	c.4087A>T	c.(4087-4089)Aag>Tag	p.K1363*	NCOA3_ENST00000341724.6_Nonsense_Mutation_p.K1289*|NCOA3_ENST00000372004.3_Nonsense_Mutation_p.K1359*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.K1354*			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1363					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTCAGAAATGAAGGGCTGGCC	0.463																																																	0													61	54	56					20																	46281290		2203	4300	6503	SO:0001587	stop_gained	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4087A>T	20.37:g.46281290A>T	ENSP00000361066:p.Lys1363*		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Nonsense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.K1363*	ENST00000371998.3	37	c.4087	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	A	44	10.964497	0.99495	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.181	15.4188	0.74995	1.0:0.0:0.0:0.0	.	.	.	.	X	1359;1289;1359;1363;1354	.	ENSP00000345671:K1359X	K	+	1	0	NCOA3	45714697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.634000	0.91002	2.099000	0.63709	0.533000	0.62120	AAG	NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.463	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	-	0	43	0	A	NM_006534		46281290	1	tier1	-	no_errors	ENST00000371998	ensembl	human	known	74_37	nonsense	32.43	25	12	SNP	1.000	T	T	46281290	A	T	46281290	4	4	91	1	0	0	0	0	0	1	0	0	10269	247	9	5	4191	5	NCOA3	20	46281290	Nonsense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2325298	46281290	16744230	470	26543											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47605928	47605928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagccatgccaaagccccGtttaccagtgccactcacct	9	8	8	16	1	1	1	1	1	0	0	1	1	1	1	7	0	5	1	7	0	2	2	rs368844677		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:47605928G>A	ENST00000371917.4	+	19	2640	c.2640G>A	c.(2638-2640)ccG>ccA	p.P880P		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	880					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCAAAGCCCCGTTTACCAGTG	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													89	79	82					20																	47605928		2203	4300	6503	SO:0001819	synonymous_variant	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2640G>A	20.37:g.47605928G>A			Q5TFT9|Q9NTS1	Silent	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.P880	ENST00000371917.4	37	c.2640	CCDS13411.1	20																																																																																			ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1		0	25	0	G	NM_006420		47605928	1			no_errors	ENST00000371917	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.002	A	A	47605928	G	A	47605928	2	1	91	1	0	0	0	0	0	0	0	1	853	1132	40	1		1	ARFGEF2	20	47605928	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	1324638	47605928	15419592	471	26544											
BCAS1	8537	genome.wustl.edu	37	chr20	52645408	52645408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgcctcgggtttggcctcTttcccaagattctttccgtt	3	16	10	12	2	2	1	0	0	2	1	5	1	4	1	4	3	1	2	4	3	1	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:52645408T>C	ENST00000395961.3	-	4	412	c.246A>G	c.(244-246)aaA>aaG	p.K82K	BCAS1_ENST00000371435.2_Silent_p.K82K|BCAS1_ENST00000371440.3_Silent_p.K82K|BCAS1_ENST00000411563.1_5'UTR	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	82						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GTTTGGCCTCTTTCCCAAGAT	0.522																																																	0													82	72	75					20																	52645408		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.246A>G	20.37:g.52645408T>C			A0AVG5|Q68CZ3	Silent	SNP	NULL	p.K82	ENST00000395961.3	37	c.246	CCDS13444.1	20																																																																																			BCAS1	-	NULL	ENSG00000064787		0.522	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2		0	42	0	T	NM_003657		52645408	-1			no_errors	ENST00000371440	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.696	C	C	52645408	T	C	52645408	2	2	91	1	0	0	0	0	0	0	0	1	1351	1606	56	4		4	BCAS1	20	52645408	Silent	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	5039480	52645408	10380112	472	26545											
GNAS	2778	genome.wustl.edu	37	chr20	57428467	57428467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagcccagccgaagagatGgagaccgaaccgcctcacaa	13	3	10	15	3	1	2	1	0	0	2	1	6	1	2	6	1	3	0	6	1	4	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:57428467G>A	ENST00000371100.4	+	1	699	c.147G>A	c.(145-147)atG>atA	p.M49I	GNAS_ENST00000371099.2_Missense_Mutation_p.M49I|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_5'Flank|GNAS_ENST00000371075.3_Intron|GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.M49I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGAAGAGATGGAGACCGAAC	0.647			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0													15	18	17					20																	57428467		1876	4104	5980	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.147G>A	20.37:g.57428467G>A	ENSP00000360141:p.Met49Ile		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.M49I	ENST00000371100.4	37	c.147	CCDS46622.1	20	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848689	0.51164	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.91068	-2.78;-2.76	3.9	3.9	0.45041	.	.	.	.	.	D	0.86598	0.5971	L	0.57536	1.79	0.80722	D	1	B	0.30914	0.3	B	0.23275	0.045	D	0.85005	0.0902	9	0.39692	T	0.17	.	11.6662	0.51374	0.0:0.0:1.0:0.0	.	49	Q5JWF2	GNAS1_HUMAN	I	49	ENSP00000360141:M49I;ENSP00000360143:M49I	ENSP00000360140:M49I	M	+	3	0	GNAS	56861862	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.382000	0.59594	2.469000	0.83416	0.563000	0.77884	ATG	GNAS	-	NULL	ENSG00000087460		0.647	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3		0	27	0	G	NM_000516		57428467	1			no_errors	ENST00000371100	ensembl	human	putative	74_37	missense	13.64	19	3	SNP	1.000	A	A	57428467	G	A	57428467	3	1	91	1	0	0	0	0	1	0	0	0	6536	1348	47	3	891	3	GNAS	20	57428467	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	4783059	57428467	5597053	473	26546											
SYCP2	10388	genome.wustl.edu	37	chr20	58443550	58443550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttctcctttctcttcCatttctacttcattggaatt	5	21	2	13	0	4	0	1	0	3	0	8	1	6	1	3	1	1	0	3	1	2	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:58443550C>T	ENST00000357552.3	-	38	4131	c.3906G>A	c.(3904-3906)atG>atA	p.M1302I	SYCP2_ENST00000371001.2_Missense_Mutation_p.M1302I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1302					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTTCTCTTCCATTTCTACTT	0.353																																																	0													185	176	179					20																	58443550		2203	4299	6502	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3906G>A	20.37:g.58443550C>T	ENSP00000350162:p.Met1302Ile		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.M1302I	ENST00000357552.3	37	c.3906	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	7.206	0.594439	0.13875	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.12984	2.63;2.63	5.67	-0.297	0.12820	.	1.227210	0.05626	N	0.580746	T	0.08802	0.0218	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40459	-0.9562	10	0.11485	T	0.65	0.3265	9.1968	0.37233	0.0:0.5173:0.0:0.4827	.	1302	Q9BX26	SYCP2_HUMAN	I	1302	ENSP00000360040:M1302I;ENSP00000350162:M1302I	ENSP00000350162:M1302I	M	-	3	0	SYCP2	57876945	0.137000	0.22531	0.020000	0.16555	0.724000	0.41520	0.307000	0.19296	0.065000	0.16485	-0.218000	0.12543	ATG	SYCP2	-	NULL	ENSG00000196074		0.353	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3		0	53	0	C	NM_014258		58443550	-1			no_errors	ENST00000357552	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.006	T	T	58443550	C	T	58443550	3	4	91	1	0	0	0	0	1	0	0	0	15479	594	21	3	718	3	SYCP2	20	58443550	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1015083	58443550	4581970	474	26547											
NTSR1	4923	genome.wustl.edu	37	chr20	61341150	61341150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatctggctcgcctcggcCctgctggcggtgcctatgct	2	10	13	16	3	1	0	0	0	1	0	3	0	1	0	4	4	3	3	4	4	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:61341150C>T	ENST00000370501.3	+	1	962	c.591C>T	c.(589-591)gcC>gcT	p.A197A		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	197					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TCGCCTCGGCCCTGCTGGCGG	0.667																																					GBM(37;400 780 6403 19663 35669)												0													63	52	56					20																	61341150		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"GPCR / Class A : Neurotensin receptors"	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.591C>T	20.37:g.61341150C>T			Q9H4H1|Q9H4T5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt	p.A197	ENST00000370501.3	37	c.591	CCDS13502.1	20																																																																																			NTSR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000101188		0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR1	HGNC	protein_coding	OTTHUMT00000080061.1	-	0	42	0	C			61341150	1	tier1	-	no_errors	ENST00000370501	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.855	T	T	61341150	C	T	61341150	2	4	91	1	0	0	0	0	0	0	0	1	10749	610	22	3		3	NTSR1	20	61341150	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	2897600	61341150	1684370	475	26548											
SRMS	6725	genome.wustl.edu	37	chr20	62178745	62178745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgccatggtccggctcGccgcccgccggccagatctt	3	7	15	16	5	1	1	0	0	1	1	3	1	2	1	6	5	1	1	6	5	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:62178745G>A	ENST00000217188.1	-	1	112	c.72C>T	c.(70-72)ggC>ggT	p.G24G		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	24	N-terminal.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGTCCGGCTCGCCGCCCGCCG	0.706																																																	0													40	46	44					20																	62178745		2136	4156	6292	SO:0001819	synonymous_variant	0				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"SH2 domain containing"	11298	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 148"	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.72C>T	20.37:g.62178745G>A				Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G24	ENST00000217188.1	37	c.72	CCDS13525.1	20																																																																																			SRMS	-	NULL	ENSG00000125508		0.706	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	SRMS	HGNC	protein_coding	OTTHUMT00000080148.1		0	41	0	G	NM_080823		62178745	-1			no_errors	ENST00000217188	ensembl	human	known	74_37	silent	29.63	15	8	SNP	0.000	A	A	62178745	G	A	62178745	2	1	91	1	0	0	0	0	0	0	0	1	15199	1074	38	1		1	SRMS	20	62178745	Silent	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	837595	62178745	846775	476	26549											
GMEB2	26205	genome.wustl.edu	37	chr20	62250681	62250681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccctccacaccactgccgtCcactgcagtgtccggagttg	6	8	9	18	2	0	0	0	0	0	0	3	1	3	1	7	1	2	2	7	1	0	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr20:62250681C>G	ENST00000266068.1	-	1	548	c.70G>C	c.(70-72)Gac>Cac	p.D24H	GMEB2_ENST00000370077.1_Missense_Mutation_p.D24H			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	24				DGSGVEGVKTVLVTTNLAPHG -> CPAGCALRDPDSILSS LHFTR (in Ref. 6). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CCACTGCCGTCCACTGCAGTG	0.652																																																	0													160	92	115					20																	62250681		2203	4300	6503	SO:0001583	missense	0			AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.70G>C	20.37:g.62250681C>G	ENSP00000266068:p.Asp24His		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom	p.D24H	ENST00000266068.1	37	c.70	CCDS13528.1	20	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493316	0.44352	.	.	ENSG00000101216	ENST00000370077;ENST00000266068	T;T	0.59772	0.24;0.24	4.69	4.69	0.59074	.	0.139522	0.43579	D	0.000551	T	0.58278	0.2111	N	0.14661	0.345	0.40740	D	0.982828	D	0.61080	0.989	P	0.59012	0.85	T	0.67894	-0.5552	10	0.87932	D	0	-1.0642	17.5536	0.87884	0.0:1.0:0.0:0.0	.	24	Q9UKD1	GMEB2_HUMAN	H	24	ENSP00000359094:D24H;ENSP00000266068:D24H	ENSP00000266068:D24H	D	-	1	0	GMEB2	61721125	0.998000	0.40836	0.044000	0.18714	0.108000	0.19459	5.313000	0.65798	2.291000	0.77112	0.313000	0.20887	GAC	GMEB2	-	NULL	ENSG00000101216		0.652	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMEB2	HGNC	protein_coding	OTTHUMT00000080166.1	-	0	33	0	C	NM_012384		62250681	-1	tier1	-	no_errors	ENST00000266068	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.757	G	G	62250681	C	G	62250681	3	3	91	1	0	0	0	0	1	0	0	0	6514	855	30	5	1558	5	GMEB2	20	62250681	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	71936	62250681	774839	477	26550											
DSCAM	1826	genome.wustl.edu	37	chr21	41684007	41684007	+	Splice_Site	DEL	C	C	-																															ggctcatgatcctttgctcaCctctgacaatcaactggctt																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr21:41684007delC	ENST00000400454.1	-	9	2540		c.e9+1			NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule						cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTTGCTCACCTCTGACAAT	0.453																																					Melanoma(134;970 1778 1785 21664 32388)												0													103	99	100					21																	41684007		1973	4173	6146	SO:0001630	splice_region_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2062+1G>-	21.37:g.41684007delC			O60468	Splice_Site	DEL	-	e9+1	ENST00000400454.1	37	c.2062+1	CCDS42929.1	21																																																																																			DSCAM	-	-	ENSG00000171587		0.453	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1		0	46	0	C	NM_001389	Intron	41684007	-1	tier1		no_errors	ENST00000400454	ensembl	human	known	74_37	splice_site_del	15.38	11	2	DEL	1.000	-	-	41684007	C	-	41684007	8	5	91	1	0	1	0	1	0	0	1	0	4782	521	18	0	4075	0	DSCAM	21	41684007	Splice_Site	DEL	C	TCGA-L5-A8NS-01A-12D-A37C-09		41684007	6445888	478	26551											
UMODL1	89766	genome.wustl.edu	37	chr21	43531564	43531564	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaaggctactgggtcaacCcacagcttccctcctggggc	7	7	11	16	1	1	0	1	0	0	0	3	1	3	0	4	4	3	2	4	4	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr21:43531564C>G	ENST00000408910.2	+	12	1899				UMODL1_ENST00000408989.2_Silent_p.T744T|UMODL1_ENST00000400427.1_Silent_p.T672T|UMODL1_ENST00000400424.2_Intron|C21orf128_ENST00000329015.2_5'Flank	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGGTCAACCCACAGCTTCC	0.647																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													50	54	53					21																	43531564		1975	4142	6117	SO:0001627	intron_variant	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"olfactorin"	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1900-52C>G	21.37:g.43531564C>G			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.T744	ENST00000408910.2	37	c.2232	CCDS42936.1	21																																																																																			UMODL1	-	NULL	ENSG00000177398		0.647	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	-	0	46	0	C			43531564	1	tier1	-	no_errors	ENST00000408989	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.000	G	G	43531564	C	G	43531564	1	3	91	0	1	0	0	0	0	0	0	0	17029	610	22	5		5	UMODL1	21	43531564	Intron	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	1847557	43531564	4598331	479	26552											
LRRC3	81543	genome.wustl.edu	37	chr21	45877116	45877116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgggtgccagcctctgcAgcgtcccccacaggaccaca	8	5	11	17	2	1	0	0	0	1	0	2	1	2	1	5	2	5	1	5	2	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr21:45877116A>G	ENST00000291592.4	+	2	906	c.589A>G	c.(589-591)Agc>Ggc	p.S197G	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	197						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CAGCCTCTGCAGCGTCCCCCA	0.622																																																	0													72	68	70					21																	45877116		2203	4300	6503	SO:0001583	missense	0			AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"chromosome 21 open reading frame 102"	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.589A>G	21.37:g.45877116A>G	ENSP00000291592:p.Ser197Gly		Q0VDJ2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.S197G	ENST00000291592.4	37	c.589	CCDS13711.1	21	.	.	.	.	.	.	.	.	.	.	A	0.118	-1.129242	0.01756	.	.	ENSG00000160233	ENST00000291592	T	0.59502	0.26	4.87	1.08	0.20341	.	0.110219	0.64402	N	0.000016	T	0.32436	0.0829	N	0.14661	0.345	0.33406	D	0.578047	B	0.09022	0.002	B	0.09377	0.004	T	0.33240	-0.9876	10	0.09843	T	0.71	-22.1667	9.265	0.37636	0.708:0.0:0.292:0.0	.	197	Q9BY71	LRRC3_HUMAN	G	197	ENSP00000291592:S197G	ENSP00000291592:S197G	S	+	1	0	LRRC3	44701544	1.000000	0.71417	0.812000	0.32479	0.224000	0.24922	3.653000	0.54446	0.007000	0.14760	0.402000	0.26972	AGC	LRRC3	-	NULL	ENSG00000160233		0.622	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC3	HGNC	protein_coding	OTTHUMT00000098095.3	-	0	29	0	A			45877116	1	tier1	-	no_errors	ENST00000291592	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.985	G	G	45877116	A	G	45877116	3	3	91	1	0	0	0	0	1	0	0	0	9019	188	7	4	591	4	LRRC3	21	45877116	Missense_Mutation	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09	2345552	45877116	2252779	480	26553											
MED15	51586	genome.wustl.edu	37	chr22	20909317	20909317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgggacagtctctgggCgggatgggtagccttggtgc	4	8	19	10	2	1	0	0	0	1	0	2	2	1	2	2	6	2	1	2	6	1	2	rs145581029	byFrequency	TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:20909317C>T	ENST00000263205.7	+	5	402	c.333C>T	c.(331-333)ggC>ggT	p.G111G	MED15_ENST00000382974.2_Intron|MED15_ENST00000406969.1_Silent_p.G85G|MED15_ENST00000292733.7_Silent_p.G111G|MED15_ENST00000541476.1_Silent_p.G85G|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	111					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGTCTCTGGGCGGGATGGGTA	0.652													C|||	2	0.000399361	0.0015	0	5008	,	,		16518	0		0	False		,,,				2504	0																0								C	,	9,4397	14.3+/-33.2	0,9,2194	39	40	40		333,333	-3.7	0.8	22	dbSNP_134	40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MED15	NM_001003891.1,NM_015889.3	,	0,10,6493	TT,TC,CC		0.0116,0.2043,0.0769	,	111/789,111/749	20909317	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"trinucleotide repeat containing 7", "PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.333C>T	22.37:g.20909317C>T			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	pfam_Mediator_Med15_met	p.G111	ENST00000263205.7	37	c.333	CCDS33602.1	22																																																																																			MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.652	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	-	0	82	0	C	NM_015889		20909317	1	tier1	rs145581029	no_errors	ENST00000263205	ensembl	human	known	74_37	silent	48.15	27	26	SNP	0.860	T	T	20909317	C	T	20909317	2	4	91	1	0	0	0	0	0	0	0	1	9471	755	27	1		1	MED15	22	20909317	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09		20909317	30395249	481	26554											
PIWIL3	440822	genome.wustl.edu	37	chr22	25151828	25151828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaaaactcaactgtaatCttcacgatgtttttgtcttt	10	18	6	7	1	4	0	2	0	2	0	4	2	4	1	0	1	2	2	0	1	4	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:25151828C>G	ENST00000332271.5	-	6	1031	c.615G>C	c.(613-615)aaG>aaC	p.K205N	PIWIL3_ENST00000533313.1_Missense_Mutation_p.K96N|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K96N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	205					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAACTGTAATCTTCACGATGT	0.378																																																	0													147	139	142					22																	25151828		2203	4300	6503	SO:0001583	missense	0			AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"Argonaute/PIWI family"	18443	protein-coding gene	gene with protein product		610314	"piwi-like 3 (Drosophila)"			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.615G>C	22.37:g.25151828C>G	ENSP00000330031:p.Lys205Asn			Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.K205N	ENST00000332271.5	37	c.615	CCDS33623.1	22	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714139	0.30413	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10192	2.9;2.9;2.9	2.52	2.52	0.30459	Argonaute/Dicer protein, PAZ (1);	0.421963	0.25052	U	0.033508	T	0.15825	0.0381	L	0.57536	1.79	0.34246	D	0.678179	P;P;P	0.47910	0.902;0.613;0.781	P;B;B	0.47626	0.552;0.179;0.334	T	0.29366	-1.0014	10	0.56958	D	0.05	-7.5414	11.1927	0.48693	0.0:1.0:0.0:0.0	.	96;205;205	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	N	205;96;96	ENSP00000330031:K205N;ENSP00000431843:K96N;ENSP00000435718:K96N	ENSP00000330031:K205N	K	-	3	2	PIWIL3	23481828	1.000000	0.71417	0.027000	0.17364	0.004000	0.04260	2.160000	0.42348	1.739000	0.51704	0.462000	0.41574	AAG	PIWIL3	-	superfamily_PAZ_dom	ENSG00000184571		0.378	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL3	HGNC	protein_coding	OTTHUMT00000320084.2	-	0	43	0	C	NM_001008496		25151828	-1	tier1	-	no_errors	ENST00000332271	ensembl	human	known	74_37	missense	20.00	32	8	SNP	0.787	G	G	25151828	C	G	25151828	3	3	91	1	0	0	0	0	1	0	0	0	11998	912	32	5	2097	5	PIWIL3	22	25151828	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	4242511	25151828	26152738	482	26555											
GATSL3	652968	genome.wustl.edu	37	chr22	30681878	30681878	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagatgtcagcggcagcCaggggacctgcaatctgtgc	9	6	15	11	1	2	1	1	0	1	1	2	3	2	2	2	3	4	3	2	3	1	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:30681878C>T	ENST00000407689.3	-	8	993	c.864G>A	c.(862-864)ctG>ctA	p.L288L	GATSL3_ENST00000404953.3_Silent_p.L250L|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	288										breast(1)|endometrium(1)|lung(1)	3						CAGCGGCAGCCAGGGGACCTG	0.617																																																	0													29	37	34					22																	30681878		2157	4264	6421	SO:0001819	synonymous_variant	0				CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.864G>A	22.37:g.30681878C>T			O76052|Q96ND9|Q9UIE8	Silent	SNP	NULL	p.L288	ENST00000407689.3	37	c.864	CCDS43001.1	22																																																																																			GATSL3	-	NULL	ENSG00000239282		0.617	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL3	HGNC	protein_coding	OTTHUMT00000320581.2		0	58	0	C	NM_001037666		30681878	-1			no_errors	ENST00000407689	ensembl	human	known	74_37	silent	6.25	30	2	SNP	1.000	T	T	30681878	C	T	30681878	2	4	91	1	0	0	0	0	0	0	0	1	6290	581	21	3		3	GATSL3	22	30681878	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	5530050	30681878	20622688	483	26556											
CCDC157	550631	genome.wustl.edu	37	chr22	30768244	30768244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctggataaggagaaggCccgtgtcgacagcatggtcc	10	6	16	9	2	0	1	0	0	0	1	2	5	1	3	2	5	2	2	2	5	2	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:30768244C>G	ENST00000405659.1	+	7	2013	c.1304C>G	c.(1303-1305)gCc>gGc	p.A435G	CCDC157_ENST00000338306.3_Missense_Mutation_p.A435G|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	435										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						AAGGAGAAGGCCCGTGTCGAC	0.662																																																	0													16	17	17					22																	30768244		2199	4297	6496	SO:0001583	missense	0			BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.1304C>G	22.37:g.30768244C>G	ENSP00000385357:p.Ala435Gly		Q0VD76|Q9BYA4	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.A435G	ENST00000405659.1	37	c.1304	CCDS33632.2	22	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862947	0.51482	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.39406	1.08;1.08	4.91	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.51422	1.61	0.80722	D	1	D	0.59767	0.986	P	0.58130	0.833	T	0.51012	-0.8759	10	0.59425	D	0.04	-24.0783	10.2535	0.43383	0.0:0.8399:0.0:0.1601	.	435	Q569K6	CC157_HUMAN	G	435	ENSP00000385357:A435G;ENSP00000343087:A435G	ENSP00000343087:A435G	A	+	2	0	CCDC157	29098244	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	1.661000	0.37408	1.284000	0.44531	0.563000	0.77884	GCC	CCDC157	-	NULL	ENSG00000187860		0.662	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC157	HGNC	protein_coding	OTTHUMT00000320936.1	-	0	56	0	C	NM_001017437		30768244	1	tier1	-	no_errors	ENST00000338306	ensembl	human	known	74_37	missense	18.18	26	6	SNP	1.000	G	G	30768244	C	G	30768244	3	3	91	1	0	0	0	0	1	0	0	0	2796	739	26	5	1322	5	CCDC157	22	30768244	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	86366	30768244	20536322	484	26557											
CSF2RB	1439	genome.wustl.edu	37	chr22	37334439	37334439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagaagcccccaggccaGgctgtgccccaggtgcccgt	7	5	13	16	1	1	1	1	0	0	1	1	1	1	1	6	3	3	1	6	3	2	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:37334439G>C	ENST00000403662.3	+	14	2811	c.2589G>C	c.(2587-2589)caG>caC	p.Q863H	CSF2RB_ENST00000406230.1_Missense_Mutation_p.Q869H|CSF2RB_ENST00000536485.1_Missense_Mutation_p.Q810H|CSF2RB_ENST00000262825.5_Missense_Mutation_p.Q869H			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	863					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCCAGGCCAGGCTGTGCCCC	0.607																																																	0													76	90	85					22																	37334439		2203	4300	6503	SO:0001583	missense	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"CD molecules", "Fibronectin type III domain containing"	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2589G>C	22.37:g.37334439G>C	ENSP00000384053:p.Gln863His		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q869H	ENST00000403662.3	37	c.2607	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294312	0.60086	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.94000	-2.81;-3.32;-3.32;-3.33	5.38	-2.4	0.06583	.	1.079400	0.07307	N	0.875087	D	0.94528	0.8238	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	1.0;0.999	D;P	0.69479	0.964;0.87	D	0.87206	0.2244	10	0.66056	D	0.02	-7.7044	9.4474	0.38706	0.5504:0.0:0.4496:0.0	.	869;863	P32927-2;P32927	.;IL3RB_HUMAN	H	863;863;869;869;810	ENSP00000384053:Q863H;ENSP00000262825:Q869H;ENSP00000385271:Q869H;ENSP00000440003:Q810H	ENSP00000262825:Q869H	Q	+	3	2	CSF2RB	35664385	0.000000	0.05858	0.002000	0.10522	0.354000	0.29330	-0.091000	0.11146	-0.309000	0.08779	0.650000	0.86243	CAG	CSF2RB	-	pirsf_IL3_rcpt_beta	ENSG00000100368		0.607	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1		0	94	0	G	NM_000395		37334439	1			no_errors	ENST00000262825	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.000	C	C	37334439	G	C	37334439	3	2	91	1	0	0	0	0	1	0	0	0	3944	991	35	5	2639	5	CSF2RB	22	37334439	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	6566195	37334439	13970127	485	26558											
GGA1	26088	genome.wustl.edu	37	chr22	38014499	38014499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcaagcggttccacgaCgaagtgggcaagttccgctt	8	8	14	11	5	0	0	0	0	0	0	2	2	2	0	2	3	2	5	2	3	3	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:38014499C>T	ENST00000343632.4	+	4	635	c.249C>T	c.(247-249)gaC>gaT	p.D83D	GGA1_ENST00000405147.3_Silent_p.D83D|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000406772.1_Silent_p.D10D|GGA1_ENST00000381756.5_Silent_p.D100D|GGA1_ENST00000325180.8_Silent_p.D83D	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	83	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGTTCCACGACGAAGTGGGCA	0.627																																																	0													132	92	106					22																	38014499		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.249C>T	22.37:g.38014499C>T			A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Silent	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.D83	ENST00000343632.4	37	c.249	CCDS13951.1	22																																																																																			GGA1	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS	ENSG00000100083		0.627	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	-	0	22	0	C	NM_013365		38014499	1	tier1	-	no_errors	ENST00000343632	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.216	T	T	38014499	C	T	38014499	2	4	91	1	0	0	0	0	0	0	0	1	6378	535	19	1		1	GGA1	22	38014499	Silent	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	680060	38014499	13290067	486	26559											
TRIOBP	11078	genome.wustl.edu	37	chr22	38130719	38130719	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgggccctgggggctGgtggggatgtggagagccca	5	6	21	9	0	0	1	0	0	0	1	0	3	0	2	3	8	1	1	3	8	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:38130719G>A	ENST00000406386.3	+	9	4631	c.4376G>A	c.(4375-4377)tGg>tAg	p.W1459*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1459					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTGGGGGCTGGTGGGGATGT	0.682																																																	0													7	8	8					22																	38130719		1700	3798	5498	SO:0001587	stop_gained	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4376G>A	22.37:g.38130719G>A	ENSP00000384312:p.Trp1459*		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.W1459*	ENST00000406386.3	37	c.4376	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	43	10.084016	0.99332	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	4.97	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.28086	N	0.931989	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	12.4813	0.55844	0.0:0.169:0.831:0.0	.	.	.	.	X	1459;1420	.	ENSP00000384312:W1459X	W	+	2	0	TRIOBP	36460665	1.000000	0.71417	0.039000	0.18376	0.032000	0.12392	4.013000	0.57138	1.062000	0.40625	0.551000	0.68910	TGG	TRIOBP	-	NULL	ENSG00000100106		0.682	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0	55	0	G			38130719	1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	nonsense	32.14	19	9	SNP	0.127	A	A	38130719	G	A	38130719	4	1	91	1	0	0	0	0	0	1	0	0	16601	1357	47	3	4402	3	TRIOBP	22	38130719	Nonsense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	116220	38130719	13173847	487	26560											
EIF3L	51386	genome.wustl.edu	37	chr22	38251609	38251609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagattcttcaagaatacaCcttggcccgaggctgaagcc	13	8	9	11	1	2	3	1	1	1	2	2	4	2	3	3	2	2	1	3	2	5	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:38251609C>T	ENST00000412331.2	+	4	913	c.331C>T	c.(331-333)Cct>Tct	p.P111S	EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Missense_Mutation_p.P111S|EIF3L_ENST00000406934.1_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CAAGAATACACCTTGGCCCGA	0.428																																																	0													68	65	66					22																	38251609		2203	4300	6503	SO:0001583	missense	0			AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"eukaryotic translation initiation factor 3, subunit 6 interacting protein", "eukaryotic translation initiation factor 3, subunit E interacting protein"	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.331C>T	22.37:g.38251609C>T	ENSP00000416892:p.Pro111Ser			Missense_Mutation	SNP	pfam_eIF3l	p.P111S	ENST00000412331.2	37	c.331	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804821	0.50315	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000414316;ENST00000381683;ENST00000262832;ENST00000451427	T;T	0.44083	0.97;0.93	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.41632	1.29	0.80722	D	1	B;B;B	0.29481	0.245;0.033;0.004	B;B;B	0.20955	0.032;0.026;0.01	T	0.10989	-1.0606	10	0.18710	T	0.47	-12.389	18.8147	0.92072	0.0:1.0:0.0:0.0	.	111;111;154	B4DYB2;Q9Y262;B0QY89	.;EIF3L_HUMAN;.	S	111;154;128;111;111;87	ENSP00000416892:P111S;ENSP00000371099:P111S	ENSP00000262832:P111S	P	+	1	0	EIF3L	36581555	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.104000	0.77024	2.502000	0.84385	0.561000	0.74099	CCT	EIF3L	-	NULL	ENSG00000100129		0.428	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	HGNC	protein_coding	OTTHUMT00000319551.2	-	0	27	0	C	NM_016091		38251609	1	tier1	-	no_errors	ENST00000412331	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	T	T	38251609	C	T	38251609	3	4	91	1	0	0	0	0	1	0	0	0	5038	507	18	3	345	3	EIF3L	22	38251609	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	120890	38251609	13052957	488	26561											
SOX10	6663	genome.wustl.edu	37	chr22	38374120	38374120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcctcgatgaaggggcGcttgtcactttcgttcagca	7	11	11	12	3	2	1	2	1	0	0	5	2	3	1	2	2	2	3	2	2	1	3			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:38374120G>C	ENST00000396884.2	-	3	733	c.451C>G	c.(451-453)Cgc>Ggc	p.R151G	SOX10_ENST00000470555.1_5'UTR|SOX10_ENST00000360880.2_Missense_Mutation_p.R151G|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	151					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					ATGAAGGGGCGCTTGTCACTT	0.637																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)												0													19	18	18					22																	38374120		2203	4300	6503	SO:0001583	missense	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.451C>G	22.37:g.38374120G>C	ENSP00000380093:p.Arg151Gly		B4DV62|Q6FHW7	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R151G	ENST00000396884.2	37	c.451	CCDS13964.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.99|18.99	3.740726|3.740726	0.69304|0.69304	.|.	.|.	ENSG00000100146|ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937;ENST00000427770|ENST00000446929	D;D;D|.	0.98012|.	-4.66;-4.66;-4.66|.	4.45|4.45	3.33|3.33	0.38152|0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.69931|0.69931	0.3166|0.3166	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.70935|.	0.971|.	T|T	0.70669|0.70669	-0.4808|-0.4808	10|5	0.87932|.	D|.	0|.	.|.	13.2882|13.2882	0.60255|0.60255	0.0:0.0:0.7347:0.2653|0.0:0.0:0.7347:0.2653	.|.	151|.	P56693|.	SOX10_HUMAN|.	G|R	151|27	ENSP00000380093:R151G;ENSP00000354130:R151G;ENSP00000414853:R151G|.	ENSP00000354130:R151G|.	R|S	-|-	1|3	0|2	SOX10|SOX10	36704066|36704066	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	4.493000|4.493000	0.60341|0.60341	2.020000|2.020000	0.59435|0.59435	0.455000|0.455000	0.32223|0.32223	CGC|AGC	SOX10	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000100146		0.637	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	-	0	23	0	G	NM_006941		38374120	-1	tier1	-	no_errors	ENST00000360880	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	C	C	38374120	G	C	38374120	3	2	91	1	0	0	0	0	1	0	0	0	14986	1087	38	5	957	5	SOX10	22	38374120	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	122511	38374120	12930446	489	26562											
CERK	64781	genome.wustl.edu	37	chr22	47108185	47108185	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtaaatgctttggtcTggacgctgtaagacaacaac	13	10	9	9	1	1	1	0	0	1	1	1	2	1	2	1	2	4	4	1	2	6	4			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:47108185T>G	ENST00000216264.8	-	4	497	c.385A>C	c.(385-387)Aga>Cga	p.R129R	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	129	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTTTGGTCTGGACGCTGTA	0.393																																																	0													168	128	142					22																	47108185		2203	4300	6503	SO:0001819	synonymous_variant	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.385A>C	22.37:g.47108185T>G			A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Silent	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.R129	ENST00000216264.8	37	c.385	CCDS14077.1	22																																																																																			CERK	-	NULL	ENSG00000100422		0.393	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	-	0	75	0	T	NM_022766		47108185	-1	tier1	-	no_errors	ENST00000216264	ensembl	human	known	74_37	silent	23.64	42	13	SNP	0.263	G	G	47108185	T	G	47108185	2	3	91	1	0	0	0	0	0	0	0	1	3274	1588	55	4		4	CERK	22	47108185	Silent	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	8734065	47108185	4196381	490	26563											
SAPS2	9701	genome.wustl.edu	37	chr22	50845231	50845231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacttcttggaccatgagcCgcctctcaatcctctgctcg	6	11	8	16	3	3	1	1	1	3	0	6	3	4	2	4	1	2	1	4	1	1	2	rs550603081		TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chr22:50845231C>T	ENST00000216061.5	+	5	711	c.341C>T	c.(340-342)cCg>cTg	p.P114L	PPP6R2_ENST00000395744.3_Missense_Mutation_p.P114L|PPP6R2_ENST00000359139.3_Missense_Mutation_p.P114L|PPP6R2_ENST00000395741.3_Missense_Mutation_p.P114L			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	114						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GACCATGAGCCGCCTCTCAAT	0.547													c|||	1	0.000199681	8e-04	0	5008	,	,		19675	0		0	False		,,,				2504	0																0													226	226	226					22																	50845231		2203	4300	6503	SO:0001583	missense	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	19253	protein-coding gene	gene with protein product		610877	"KIAA0685", "SAPS domain family, member 2"	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.341C>T	22.37:g.50845231C>T	ENSP00000216061:p.Pro114Leu		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.P114L	ENST00000216061.5	37	c.341		22	.	.	.	.	.	.	.	.	.	.	c	17.00	3.277529	0.59758	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.34072	1.39;1.39;1.39;1.38	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.47857	0.1468	M	0.89478	3.035	0.80722	D	1	B;P;B;P;B	0.38677	0.305;0.509;0.187;0.642;0.187	B;B;B;B;B	0.34652	0.086;0.091;0.105;0.187;0.105	T	0.60860	-0.7179	10	0.66056	D	0.02	-19.4322	17.6863	0.88257	0.0:1.0:0.0:0.0	.	114;114;114;114;114	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	L	114	ENSP00000352051:P114L;ENSP00000379090:P114L;ENSP00000379093:P114L;ENSP00000216061:P114L	ENSP00000216061:P114L	P	+	2	0	PPP6R2	49192097	1.000000	0.71417	0.975000	0.42487	0.446000	0.32137	7.568000	0.82369	2.478000	0.83669	0.550000	0.68814	CCG	PPP6R2	-	superfamily_ARM-type_fold	ENSG00000100239		0.547	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1		0	32	0	C	NM_014678		50845231	1			no_errors	ENST00000216061	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	50845231	C	T	50845231	3	4	91	1	0	0	0	0	1	0	0	0	13882	652	23	1	347	1	SAPS2	22	50845231	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3737046	50845231	459335	491	26564											
ARSF	416	genome.wustl.edu	37	chrX	2990157	2990157	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaagcctaatattgtcctAatcatggttgatgacctggg	11	12	10	8	0	1	2	1	2	0	0	2	3	2	2	3	2	1	1	3	2	4	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:2990157A>C	ENST00000381127.1	+	3	323	c.102A>C	c.(100-102)ctA>ctC	p.L34L	ARSF_ENST00000359361.2_Silent_p.L34L|ARSF_ENST00000537104.1_Silent_p.L34L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	34					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATATTGTCCTAATCATGGTTG	0.502																																																	0													227	182	197					X																	2990157		2203	4300	6503	SO:0001819	synonymous_variant	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.102A>C	X.37:g.2990157A>C			Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L34	ENST00000381127.1	37	c.102	CCDS14123.1	X																																																																																			ARSF	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000062096		0.502	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0	27	0	A			2990157	1	tier1	-	no_errors	ENST00000359361	ensembl	human	known	74_37	silent	54.55	5	6	SNP	1.000	C	C	2990157	A	C	2990157	2	2	91	1	0	0	0	0	0	0	0	1	992	349	13	4		4	ARSF	23	2990157	Silent	SNP	A	TCGA-L5-A8NS-01A-12D-A37C-09		2990157	152280403	492	26565											
SHROOM2	357	genome.wustl.edu	37	chrX	9905366	9905367	+	Frame_Shift_Ins	INS	-	-	T																															agcagttctactcgcgcttcINStgtctgtacacgcggcaggg																										TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:9905366_9905367insT	ENST00000380913.3	+	7	3870_3871	c.3780_3781insT	c.(3781-3783)tgtfs	p.C1261fs	SHROOM2_ENST00000418909.2_Frame_Shift_Ins_p.C96fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1261					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ACTCGCGCTTCTGTCTGTACAC	0.678																																																	0																																										SO:0001589	frameshift_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3781dupT	X.37:g.9905367_9905367dupT	ENSP00000370299:p.Cys1261fs		B9EIQ7	Frame_Shift_Ins	INS	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.C1260fs	ENST00000380913.3	37	c.3780_3781	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.678	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1		0	21	0	-	NM_001649		9905367	1	tier1		no_errors	ENST00000380913	ensembl	human	known	74_37	frame_shift_ins	27.78	13	5	INS	1.000:1.000	T	T	9905367	-	T	9905366	7	5	91	1	0	1	1	0	0	0	0	0	14339	912	32	0	3806	0	SHROOM2	23	9905366	Frame_Shift_Ins	INS	-	TCGA-L5-A8NS-01A-12D-A37C-09	6915209	9905366	145365194	493	26566											
UBA1	7317	genome.wustl.edu	37	chrX	47058627	47058627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtatgtgttgggccatgagGcaatgaagcggctccagaca	10	8	15	8	1	0	3	0	2	0	1	1	3	1	3	2	4	1	4	2	4	3	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:47058627G>A	ENST00000335972.6	+	4	379	c.196G>A	c.(196-198)Gca>Aca	p.A66T	UBA1_ENST00000377351.4_Missense_Mutation_p.A66T	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	66	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGCCATGAGGCAATGAAGCG	0.587																																																	0													85	77	79					X																	47058627		2203	4300	6503	SO:0001583	missense	0			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"Ubiquitin-like modifier activating enzymes"	12469	protein-coding gene	gene with protein product	"UBA1, ubiquitin-activating enzyme E1 homolog (yeast)", "POC20 centriolar protein homolog (Chlamydomonas)"	314370	"ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)", "ubiquitin-activating enzyme E1"	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.196G>A	X.37:g.47058627G>A	ENSP00000338413:p.Ala66Thr		Q5JRR8|Q96E13	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A66T	ENST00000335972.6	37	c.196	CCDS14275.1	X	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533360	0.85812	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000427561;ENST00000442035;ENST00000457753;ENST00000335972;ENST00000451702	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.07	5.07	0.68467	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.050518	0.85682	D	0.000000	T	0.48857	0.1523	L	0.39692	1.235	0.80722	D	1	P	0.51653	0.947	P	0.54706	0.759	T	0.35226	-0.9797	10	0.34782	T	0.22	-15.005	16.4416	0.83903	0.0:0.0:1.0:0.0	.	66	P22314	UBA1_HUMAN	T	66;66;80;80;117;66;117	ENSP00000366568:A66T;ENSP00000415033:A66T;ENSP00000397816:A80T;ENSP00000389583:A80T;ENSP00000404796:A117T;ENSP00000338413:A66T;ENSP00000401101:A117T	ENSP00000338413:A66T	A	+	1	0	UBA1	46943571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.366000	0.79548	2.491000	0.84063	0.597000	0.82753	GCA	UBA1	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000130985		0.587	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	-	0	28	0	G	NM_003334		47058627	1	tier1	-	no_errors	ENST00000335972	ensembl	human	known	74_37	missense	54.55	10	12	SNP	1.000	A	A	47058627	G	A	47058627	3	1	91	1	0	0	0	0	1	0	0	0	16876	1203	42	3	206	3	UBA1	23	47058627	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	37153261	47058627	108211933	494	26567											
ZNF81	347344	genome.wustl.edu	37	chrX	47775831	47775831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccttctccaagaaaccaCatctcaaagtacatcaacga	17	8	3	13	1	3	1	2	0	2	1	6	2	4	1	3	0	3	1	3	0	6	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:47775831C>G	ENST00000376954.1	+	6	2154	c.1786C>G	c.(1786-1788)Cat>Gat	p.H596D	ZNF81_ENST00000338637.7_Missense_Mutation_p.H596D			P51508	ZNF81_HUMAN	zinc finger protein 81	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CAAGAAACCACATCTCAAAGT	0.383																																																	0													55	55	55					X																	47775831		2154	4262	6416	SO:0001583	missense	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1786C>G	X.37:g.47775831C>G	ENSP00000366153:p.His596Asp		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H596D	ENST00000376954.1	37	c.1786	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270574	0.23221	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.16743	2.32;2.32	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43110	D	0.000607	T	0.17280	0.0415	N	0.05619	-0.005	0.24286	N	0.995185	D	0.67145	0.996	D	0.64776	0.929	T	0.15549	-1.0433	10	0.23891	T	0.37	.	10.9628	0.47395	0.0:1.0:0.0:0.0	.	596	P51508	ZNF81_HUMAN	D	596	ENSP00000366153:H596D;ENSP00000341151:H596D	ENSP00000341151:H596D	H	+	1	0	ZNF81	47660775	0.000000	0.05858	1.000000	0.80357	0.978000	0.69477	-1.606000	0.02072	2.353000	0.79882	0.513000	0.50165	CAT	ZNF81	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197779		0.383	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	-	0	30	0	C	NM_007137		47775831	1	tier1	-	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	61.11	7	11	SNP	1.000	G	G	47775831	C	G	47775831	3	3	91	1	0	0	0	0	1	0	0	0	18222	478	17	5	1800	5	ZNF81	23	47775831	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	717204	47775831	107494729	495	26568											
RIBC1	158787	genome.wustl.edu	37	chrX	53457932	53457932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtttaacaccagcagccGctaagttcaggatgtctatc	11	10	9	11	1	2	0	1	0	1	0	3	1	2	1	2	1	3	5	2	1	3	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:53457932G>A	ENST00000375327.3	+	8	1289	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	379										lung(2)	2						ACCAGCAGCCGCTAAGTTCAG	0.468																																																	0													178	142	154					X																	53457932		2203	4300	6503	SO:0001583	missense	0			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.1136G>A	X.37:g.53457932G>A	ENSP00000364476:p.Arg379His		B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	pfam_RIB43A	p.R379H	ENST00000375327.3	37	c.1136	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620621	0.66787	.	.	ENSG00000158423	ENST00000375327	T	0.58652	0.32	5.32	4.45	0.53987	.	0.049576	0.85682	N	0.000000	T	0.77644	0.4161	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80712	-0.1260	10	0.87932	D	0	-15.8619	11.9115	0.52741	0.0885:0.0:0.9115:0.0	.	379	Q8N443	RIBC1_HUMAN	H	379	ENSP00000364476:R379H	ENSP00000364476:R379H	R	+	2	0	RIBC1	53474657	1.000000	0.71417	0.998000	0.56505	0.616000	0.37450	4.847000	0.62867	1.016000	0.39470	0.600000	0.82982	CGC	RIBC1	-	pfam_RIB43A	ENSG00000158423		0.468	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	-	0	34	0	G	NM_144968		53457932	1	tier1	-	no_errors	ENST00000375327	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	A	A	53457932	G	A	53457932	3	1	91	1	0	0	0	0	1	0	0	0	13397	1087	38	1	1193	1	RIBC1	23	53457932	Missense_Mutation	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	5682101	53457932	101812628	496	26569											
SLC16A2	6567	genome.wustl.edu	37	chrX	73641366	73641366	+	5'UTR	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctggaggaggaggcagcgGcagcggcagcagcagccctc	8	2	18	13	2	0	0	0	0	0	0	1	3	0	3	2	6	5	5	2	6	0	0			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:73641366G>T	ENST00000587091.1	+	0	71				SLC16A2_ENST00000276033.5_Missense_Mutation_p.G39V	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)						monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	GGAGgcagcggcagcggcagc	0.706																																																	0													16	14	14					X																	73641366		2124	4182	6306	SO:0001623	5_prime_UTR_variant	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"Solute carriers"	10923	protein-coding gene	gene with protein product		300095	"solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)", "Allan-Herndon-Dudley syndrome", "solute carrier family 16 (monocarboxylic acid transporters), member 2", "mental retardation, X-linked 22", "solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.-107G>T	X.37:g.73641366G>T			Q7Z797	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G39V	ENST00000587091.1	37	c.116	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	G	6.847	0.525521	0.13066	.	.	ENSG00000147100	ENST00000276033	T	0.27402	1.67	2.97	-0.0277	0.13925	.	.	.	.	.	T	0.14098	0.0341	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.21759	-1.0236	7	0.72032	D	0.01	.	2.9166	0.05755	0.1232:0.171:0.5315:0.1743	.	.	.	.	V	39	ENSP00000276033:G39V	ENSP00000276033:G39V	G	+	2	0	SLC16A2	73558091	0.393000	0.25237	0.000000	0.03702	0.195000	0.23768	0.607000	0.24209	-0.704000	0.05042	-2.007000	0.00441	GGC	SLC16A2	-	NULL	ENSG00000147100		0.706	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	-	0	13	0	G			73641366	1	tier1	-	no_errors	ENST00000276033	ensembl	human	known	74_37	missense	50.00	4	4	SNP	0.000	T	T	73641366	G	T	73641366	1	4	91	0	1	0	0	0	0	0	0	0	14453	1203	42	3		3	SLC16A2	23	73641366	5'UTR	SNP	G	TCGA-L5-A8NS-01A-12D-A37C-09	20183434	73641366	81629194	497	26570											
HMGN5	79366	genome.wustl.edu	37	chrX	80370665	80370665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctttcttttctcctcccTtttctgtggcatcttcaata	4	21	3	13	0	6	0	1	0	5	0	8	0	7	0	2	1	0	1	2	1	2	8			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:80370665T>C	ENST00000358130.2	-	7	660	c.332A>G	c.(331-333)aAg>aGg	p.K111R	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	111					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						ttctcctcccttttctGTGGC	0.363																																																	0													55	38	44					X																	80370665		2196	4291	6487	SO:0001583	missense	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.332A>G	X.37:g.80370665T>C	ENSP00000350848:p.Lys111Arg		Q5JSL1	Missense_Mutation	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.K111R	ENST00000358130.2	37	c.332	CCDS14448.1	X	.	.	.	.	.	.	.	.	.	.	T	7.933	0.741166	0.15642	.	.	ENSG00000198157	ENST00000358130;ENST00000447319;ENST00000373250;ENST00000430960	.	.	.	3.79	2.57	0.30868	.	0.822769	0.09841	U	0.748863	T	0.17874	0.0429	N	0.08118	0	0.09310	N	1	B	0.26400	0.148	B	0.15052	0.012	T	0.17868	-1.0355	9	0.72032	D	0.01	.	5.5559	0.17115	0.2479:0.0:0.0:0.7521	.	111	P82970	HMGN5_HUMAN	R	111;91;101;111	.	ENSP00000350848:K111R	K	-	2	0	HMGN5	80257321	0.016000	0.18221	0.027000	0.17364	0.210000	0.24377	0.472000	0.22116	0.596000	0.29794	0.441000	0.28932	AAG	HMGN5	-	NULL	ENSG00000198157		0.363	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1		0	19	0	T	NM_030763		80370665	-1			no_errors	ENST00000358130	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.025	C	C	80370665	T	C	80370665	3	2	91	1	0	0	0	0	1	0	0	0	7265	1609	56	4	520	4	HMGN5	23	80370665	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	6729299	80370665	74899895	498	26571											
PABPC5	140886	genome.wustl.edu	37	chrX	90691007	90691007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtatgcgatgacaacggctCtaagggttatgcctatgttc	9	12	11	9	3	1	1	0	1	1	0	2	2	1	1	1	2	3	4	1	2	5	5			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:90691007C>G	ENST00000312600.3	+	2	645	c.431C>G	c.(430-432)tCt>tGt	p.S144C	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	144	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GACAACGGCTCTAAGGGTTAT	0.473																																																	0													84	74	78					X																	90691007		2203	4300	6503	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"RNA binding motif (RRM) containing"	13629	protein-coding gene	gene with protein product		300407	"poly(A)-binding protein, cytoplasmic 5"			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.431C>G	X.37:g.90691007C>G	ENSP00000308012:p.Ser144Cys		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.S144C	ENST00000312600.3	37	c.431	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476649	0.63737	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.21543	2.0	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	M	0.83483	2.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.55218	-0.8175	10	0.87932	D	0	.	13.8904	0.63736	0.0:1.0:0.0:0.0	.	144	Q96DU9	PABP5_HUMAN	C	144;112	ENSP00000308012:S144C	ENSP00000308012:S144C	S	+	2	0	PABPC5	90577663	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.540000	0.60664	2.450000	0.82876	0.600000	0.82982	TCT	PABPC5	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000174740		0.473	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	-	0	31	0	C	NM_080832		90691007	1	tier1	-	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	60.00	8	12	SNP	1.000	G	G	90691007	C	G	90691007	3	3	91	1	0	0	0	0	1	0	0	0	11406	913	32	5	433	5	PABPC5	23	90691007	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	10320342	90691007	64579553	499	26572											
MCF2	4168	genome.wustl.edu	37	chrX	138678710	138678710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatacaaattgtcttacttTccaacagtgtttaaaactgt	13	15	5	8	1	1	0	0	0	1	0	2	1	2	0	1	0	4	1	1	0	6	6			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:138678710T>C	ENST00000370576.4	-	19	2484	c.2275A>G	c.(2275-2277)Aaa>Gaa	p.K759E	MCF2_ENST00000520602.1_Missense_Mutation_p.K819E|MCF2_ENST00000338585.6_Missense_Mutation_p.K775E|MCF2_ENST00000370578.4_Missense_Mutation_p.K904E|MCF2_ENST00000519895.1_Missense_Mutation_p.K835E|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000536274.1_Missense_Mutation_p.K720E|MCF2_ENST00000370573.4_Missense_Mutation_p.K759E|MCF2_ENST00000414978.1_Missense_Mutation_p.K819E	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	759	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGTCTTACTTTCCAACAGTGT	0.358																																																	0													56	45	49					X																	138678710		2203	4299	6502	SO:0001583	missense	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"Rho guanine nucleotide exchange factors"	6940	protein-coding gene	gene with protein product	"Oncogene MCF2 (oncogene DBL)"	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2275A>G	X.37:g.138678710T>C	ENSP00000359608:p.Lys759Glu		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K904E	ENST00000370576.4	37	c.2710	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.248193|4.248193	0.80024|0.80024	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000437564|ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585	.|T;T;T;T;T;T;T;T;T	.|0.13901	.|2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.55	5.67|5.67	4.51|4.51	0.55191|0.55191	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.128514	.|0.64402	.|D	.|0.000001	T|T	0.37046|0.37046	0.0989|0.0989	M|M	0.91249|0.91249	3.19|3.19	0.58432|0.58432	D|D	0.999994|0.999994	.|P;P;P;P;P;P;P;P	.|0.48764	.|0.862;0.773;0.915;0.862;0.915;0.862;0.913;0.862	.|B;B;P;P;P;P;P;P	.|0.55577	.|0.434;0.342;0.637;0.489;0.687;0.52;0.779;0.489	T|T	0.27872|0.27872	-1.0061|-1.0061	5|10	.|0.59425	.|D	.|0.04	.|.	9.7593|9.7593	0.40522|0.40522	0.0:0.0811:0.0:0.9188|0.0:0.0811:0.0:0.9188	.|.	.|835;904;720;759;759;904;775;759	.|E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.|.;.;.;.;.;.;.;MCF2_HUMAN	G|E	262|819;759;720;904;819;362;835;759;775	.|ENSP00000427745:K819E;ENSP00000359608:K759E;ENSP00000438155:K720E;ENSP00000359610:K904E;ENSP00000397055:K819E;ENSP00000405848:K362E;ENSP00000430276:K835E;ENSP00000359605:K759E;ENSP00000342204:K775E	.|ENSP00000342204:K775E	E|K	-|-	2|1	0|0	MCF2|MCF2	138506376|138506376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	6.250000|6.250000	0.72435|0.72435	0.784000|0.784000	0.33661|0.33661	0.486000|0.486000	0.48141|0.48141	GAA|AAA	MCF2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000101977		0.358	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	-	0	45	0	T	NM_005369		138678710	-1	tier1	-	no_errors	ENST00000370578	ensembl	human	known	74_37	missense	40.62	19	13	SNP	1.000	C	C	138678710	T	C	138678710	3	2	91	1	0	0	0	0	1	0	0	0	9416	1792	62	4	558	4	MCF2	23	138678710	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	47987703	138678710	16591850	500	26573											
MAMLD1	10046	genome.wustl.edu	37	chrX	149639632	149639632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgccaccttgcagcTgcagcagcagcagcagcaac	10	4	11	16	0	0	0	0	0	0	0	0	0	0	0	3	1	10	8	3	1	1	1			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:149639632T>C	ENST00000370401.2	+	4	2097	c.1787T>C	c.(1786-1788)cTg>cCg	p.L596P	MAMLD1_ENST00000426613.2_Missense_Mutation_p.L571P|MAMLD1_ENST00000432680.2_Missense_Mutation_p.L571P|MAMLD1_ENST00000455522.2_Missense_Mutation_p.L77P|MAMLD1_ENST00000262858.5_Missense_Mutation_p.L596P			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTTgcagctgcagcagcag	0.612																																																	0													67	60	62					X																	149639632		2203	4300	6503	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"chromosome X open reading frame 6"	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1787T>C	X.37:g.149639632T>C	ENSP00000359428:p.Leu596Pro		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.L571P	ENST00000370401.2	37	c.1712	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	T	10.35	1.324548	0.24080	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	3.98	-5.4	0.02656	.	1.571050	0.03858	N	0.273440	T	0.54581	0.1867	L	0.51422	1.61	0.52501	D	0.999956	B;B;B;B	0.11235	0.001;0.002;0.004;0.004	B;B;B;B	0.13407	0.006;0.006;0.009;0.006	T	0.24905	-1.0147	10	0.23891	T	0.37	-0.4166	5.7174	0.17968	0.5456:0.2684:0.0:0.186	.	468;571;571;596	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	P	468;596;571;596;571;77	ENSP00000359428:L596P;ENSP00000414517:L571P;ENSP00000262858:L596P;ENSP00000397438:L571P;ENSP00000389106:L77P	ENSP00000262858:L596P	L	+	2	0	MAMLD1	149390290	0.129000	0.22400	0.010000	0.14722	0.386000	0.30323	-0.423000	0.07034	-0.945000	0.03681	-1.230000	0.01575	CTG	MAMLD1	-	NULL	ENSG00000013619		0.612	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2		0	22	0	T	NM_005491		149639632	1			no_errors	ENST00000432680	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.980	C	C	149639632	T	C	149639632	3	2	91	1	0	0	0	0	1	0	0	0	9246	1580	55	4	1797	4	MAMLD1	23	149639632	Missense_Mutation	SNP	T	TCGA-L5-A8NS-01A-12D-A37C-09	10960922	149639632	5630928	501	26574											
PLXNB3	5365	genome.wustl.edu	37	chrX	153037063	153037063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgctatgggcccttgtgcCcgccgggggctgtggagctg	2	9	18	12	3	0	0	0	0	0	0	1	1	0	1	3	4	2	3	3	4	1	2			TCGA-L5-A8NS-01A-12D-A37C-09	TCGA-L5-A8NS-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2174ecb1-09fd-4f64-ad02-328e19aff1d8	e9e4d67d-bc41-464a-9021-ff58fe4f406f	g.chrX:153037063C>A	ENST00000361971.5	+	14	2584	c.2470C>A	c.(2470-2472)Ccg>Acg	p.P824T	PLXNB3_ENST00000538966.1_Missense_Mutation_p.P847T|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.P434T|PLXNB3_ENST00000538776.1_Missense_Mutation_p.P477T	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	824	PSI 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTGTGCCCGCCGGGGGC	0.706																																																	0													20	22	21					X																	153037063		2184	4290	6474	SO:0001583	missense	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"Plexins"	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2470C>A	X.37:g.153037063C>A	ENSP00000355378:p.Pro824Thr		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.P847T	ENST00000361971.5	37	c.2539	CCDS14729.1	X	.	.	.	.	.	.	.	.	.	.	C	6.645	0.487423	0.12641	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.69306	5.19;5.15;4.57;-0.39	5.11	4.24	0.50183	.	0.575706	0.18420	N	0.141776	T	0.50017	0.1591	L	0.39898	1.24	0.29768	N	0.835005	B;P;B;B	0.35411	0.011;0.5;0.022;0.006	B;B;B;B	0.25614	0.011;0.062;0.015;0.011	T	0.42378	-0.9455	10	0.10111	T	0.7	.	12.2683	0.54691	0.0:0.818:0.182:0.0	.	477;506;847;824	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	T	847;824;477;434	ENSP00000442736:P847T;ENSP00000355378:P824T;ENSP00000445569:P477T;ENSP00000441919:P434T	ENSP00000355378:P824T	P	+	1	0	PLXNB3	152690257	0.000000	0.05858	0.779000	0.31741	0.010000	0.07245	-0.017000	0.12590	0.916000	0.36871	-0.347000	0.07816	CCG	PLXNB3	-	superfamily_Plexin-like_fold,smart_Plexin-like_fold	ENSG00000198753		0.706	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1	-	0	9	0	C			153037063	1	tier1	-	no_errors	ENST00000538966	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.940	A	A	153037063	C	A	153037063	3	1	91	1	0	0	0	0	1	0	0	0	12164	623	22	3	2638	3	PLXNB3	23	153037063	Missense_Mutation	SNP	C	TCGA-L5-A8NS-01A-12D-A37C-09	3397431	153037063	2233497	502	26575											
PRDM16	63976	genome.wustl.edu	37	chr1	3329152	3329152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctcggcccccgcatcCggcgaggagcagccgctgga	5	3	15	18	5	0	0	0	0	0	0	2	3	1	2	6	5	2	3	6	5	0	0	rs370931714	byFrequency	TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:3329152C>T	ENST00000270722.5	+	9	2440	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	PRDM16_ENST00000511072.1_Silent_p.S798S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.S798S|PRDM16_ENST00000441472.2_Silent_p.S797S|PRDM16_ENST00000442529.2_Silent_p.S797S|PRDM16_ENST00000514189.1_Silent_p.S798S|PRDM16_ENST00000378391.2_Silent_p.S797S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	797	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCCGCATCCGGCGAGGAGC	0.701			T	EVI1	"MDS, AML"								C|||	4	0.000798722	0.003	0	5008	,	,		11216	0		0	False		,,,				2504	0							Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0								C	,	3,3727		0,3,1862	9	12	11		2391,2391	-6.4	0	1		11	0,8020		0,0,4010	no	coding-synonymous,coding-synonymous	PRDM16	NM_022114.3,NM_199454.2	,	0,3,5872	TT,TC,CC		0.0,0.0804,0.0255	,	797/1277,797/1258	3329152	3,11747	1865	4010	5875	SO:0001819	synonymous_variant	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2391C>T	1.37:g.3329152C>T			A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S797	ENST00000270722.5	37	c.2391	CCDS41236.2	1																																																																																			PRDM16	-	NULL	ENSG00000142611		0.701	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	-	0	137	0	C	NM_022114		3329152	1	tier1	-	no_errors	ENST00000270722	ensembl	human	known	74_37	silent	41.73	74	53	SNP	0.016	T	T	3329152	C	T	3329152	2	4	92	1	0	0	0	0	0	0	0	1	12499	639	23	1		1	PRDM16	1	3329152	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		3329152	245921469	1	26576											
C1orf127	148345	genome.wustl.edu	37	chr1	11015170	11015171	+	Frame_Shift_Ins	INS	-	-	GAAC																															tcagggtttcctcaatgtagINSgaacctcttttgactagacc																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:11015170_11015171insGAAC	ENST00000377008.4	-	8	796_797	c.350_351insGTTC	c.(349-351)tccfs	p.-117fs	C1orf127_ENST00000377004.4_Frame_Shift_Ins_p.-284fs			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127											NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTCAATGTAGGAACCTCTTTT	0.51																																																	0																																										SO:0001589	frameshift_variant	0			AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.347_350dupGTTC	1.37:g.11015171_11015174dupGAAC	ENSP00000366207:p.Ser117fs		A0AVG8|A6NKM7|Q5VXJ2	Frame_Shift_Ins	INS	superfamily_DNA-bd_dom_put	p.Y285fs	ENST00000377008.4	37	c.852_851		1																																																																																			C1orf127	-	NULL	ENSG00000175262		0.51	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	HGNC	protein_coding			0	42	0	-	NM_173507		11015171	-1	tier1		no_errors	ENST00000377004	ensembl	human	known	74_37	frame_shift_ins	14.29	42	7	INS	0.000:0.000	GAAC	GAAC	11015171	-	GAAC	11015170	7	5	92	1	0	1	1	0	0	0	0	0	2001	987	35	0	1635	0	C1orf127	1	11015170	Frame_Shift_Ins	INS	-	TCGA-L5-A8NT-01A-11D-A37C-09	7686018	11015170	238235451	2	26577											
PRAMEF1	65121	genome.wustl.edu	37	chr1	12855915	12855915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccctgaaggacctgctgCgccacaccagtgggctgagc	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	2	4	2	1	0	rs377131924		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:12855915C>T	ENST00000332296.7	+	4	1298	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154C	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCTGCTGCGCCACACCAG	0.557													.|||	1	0.000199681	0	0	5008	,	,		19646	0		0	False		,,,				2504	0.001																0								C	CYS/ARG	0,4404		0,0,2202	51	48	49		1195	-0.9	0	1		49	2,8586		0,2,4292	no	missense	PRAMEF1	NM_023013.2	180	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	399/475	12855915	2,12990	2202	4294	6496	SO:0001583	missense	0			AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"-"	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1195C>T	1.37:g.12855915C>T	ENSP00000332134:p.Arg399Cys		Q9UQP2	Missense_Mutation	SNP	NULL	p.R399C	ENST00000332296.7	37	c.1195	CCDS148.1	1	.	.	.	.	.	.	.	.	.	.	.	4.223	0.040221	0.08148	0.0	2.33E-4	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.50001	0.76;0.76	1.56	-0.89	0.10577	.	1.571450	0.04233	N	0.335492	T	0.36908	0.0984	L	0.47716	1.5	0.09310	N	1	B	0.21606	0.058	B	0.14023	0.01	T	0.12142	-1.0559	10	0.32370	T	0.25	.	2.9885	0.05975	0.0:0.508:0.2875:0.2045	.	399	O95521	PRAM1_HUMAN	C	399;154	ENSP00000332134:R399C;ENSP00000383616:R154C	ENSP00000332134:R399C	R	+	1	0	PRAMEF1	12778502	0.011000	0.17503	0.009000	0.14445	0.020000	0.10135	0.203000	0.17315	-0.245000	0.09625	0.205000	0.17691	CGC	PRAMEF1	-	NULL	ENSG00000116721		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF1	HGNC	protein_coding	OTTHUMT00000005458.1		0	327	0	C	NM_023013		12855915	1			no_errors	ENST00000332296	ensembl	human	known	74_37	missense	5.02	415	22	SNP	0.012	T	T	12855915	C	T	12855915	3	4	92	1	0	0	0	0	1	0	0	0	12467	768	27	1	1205	1	PRAMEF1	1	12855915	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1840745	12855915	236394706	3	26578											
PRAMEF2	65122	genome.wustl.edu	37	chr1	12921404	12921404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccctgaaggacctgctgCgccacaccagtgggctgagc	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	2	4	2	1	0	rs576051310	byFrequency	TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:12921404C>T	ENST00000240189.2	+	4	1282	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCTGCTGCGCCACACCAG	0.557													.|||	3	0.000599042	0	0	5008	,	,		26711	0.001		0	False		,,,				2504	0.002																0													72	75	74					1																	12921404		2202	4296	6498	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1195C>T	1.37:g.12921404C>T	ENSP00000240189:p.Arg399Cys			Missense_Mutation	SNP	NULL	p.R399C	ENST00000240189.2	37	c.1195	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	2.140	-0.397001	0.04899	.	.	ENSG00000120952	ENST00000240189	T	0.50001	0.76	0.824	-0.325	0.12702	.	1.555060	0.04295	N	0.346332	T	0.35653	0.0939	L	0.39245	1.2	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.13282	-1.0515	10	0.33141	T	0.24	.	2.8894	0.05671	0.0:0.5607:0.0:0.4393	.	399	O60811	PRAM2_HUMAN	C	399	ENSP00000240189:R399C	ENSP00000240189:R399C	R	+	1	0	PRAMEF2	12843991	0.002000	0.14202	0.003000	0.11579	0.003000	0.03518	0.107000	0.15375	-0.121000	0.11787	0.173000	0.16961	CGC	PRAMEF2	-	NULL	ENSG00000120952		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	-	0	304	0	C	NM_023014		12921404	1	tier1	-	no_errors	ENST00000240189	ensembl	human	known	74_37	missense	15.28	254	46	SNP	0.003	T	T	12921404	C	T	12921404	3	4	92	1	0	0	0	0	1	0	0	0	12477	768	27	1	1205	1	PRAMEF2	1	12921404	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	65489	12921404	236329217	4	26579											
FBXO42	54455	genome.wustl.edu	37	chr1	16632345	16632345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaggataaggataggtaCggctctcccactgaatgttt	10	12	10	9	1	1	1	0	1	1	0	3	3	2	3	2	4	1	3	2	4	4	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:16632345C>T	ENST00000375592.3	-	3	536	c.320G>A	c.(319-321)cGt>cAt	p.R107H	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	107										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AGGATAGGTACGGCTCTCCCA	0.478																																																	0													204	168	180					1																	16632345		2203	4300	6503	SO:0001583	missense	0			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"F-boxes /  "other""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.320G>A	1.37:g.16632345C>T	ENSP00000364742:p.Arg107His		B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R107H	ENST00000375592.3	37	c.320	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.660682	0.96734	.	.	ENSG00000037637	ENST00000375592	T	0.04049	3.72	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.07413	0.0187	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	P	0.56088	0.791	T	0.54146	-0.8337	10	0.36615	T	0.2	-17.7664	18.8634	0.92281	0.0:1.0:0.0:0.0	.	107	Q6P3S6	FBX42_HUMAN	H	107	ENSP00000364742:R107H	ENSP00000364742:R107H	R	-	2	0	FBXO42	16504932	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	7.376000	0.79658	2.711000	0.92665	0.655000	0.94253	CGT	FBXO42	-	NULL	ENSG00000037637		0.478	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	-	0	53	0	C			16632345	-1	tier1	-	no_errors	ENST00000375592	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	16632345	C	T	16632345	3	4	92	1	0	0	0	0	1	0	0	0	5773	536	19	1	1865	1	FBXO42	1	16632345	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	3710941	16632345	232618276	5	26580											
IGSF21	84966	genome.wustl.edu	37	chr1	18661448	18661448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgggcatctacgaccGcgccaccagggagaaggtgg	9	5	15	12	3	1	1	0	0	1	1	1	3	1	1	4	4	1	1	4	4	2	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:18661448G>A	ENST00000251296.1	+	4	751	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	123	Ig-like 1.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATCTACGACCGCGCCACCAGG	0.622																																																	0													101	74	83					1																	18661448		2203	4300	6503	SO:0001583	missense	0			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.368G>A	1.37:g.18661448G>A	ENSP00000251296:p.Arg123His		Q8NBR8	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.R123H	ENST00000251296.1	37	c.368	CCDS184.1	1	.	.	.	.	.	.	.	.	.	.	g	29.1	4.975183	0.92919	.	.	ENSG00000117154	ENST00000251296	T	0.56611	0.45	5.57	5.57	0.84162	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64266	-0.6448	10	0.39692	T	0.17	-17.7614	18.1211	0.89572	0.0:0.0:1.0:0.0	.	123	Q96ID5	IGS21_HUMAN	H	123	ENSP00000251296:R123H	ENSP00000251296:R123H	R	+	2	0	IGSF21	18534035	1.000000	0.71417	0.953000	0.39169	0.840000	0.47671	8.136000	0.89610	2.614000	0.88457	0.651000	0.88453	CGC	IGSF21	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000117154		0.622	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF21	HGNC	protein_coding	OTTHUMT00000006924.1	-	0	54	0	G	NM_032880		18661448	1	tier1	-	no_errors	ENST00000251296	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	A	A	18661448	G	A	18661448	3	1	92	1	0	0	0	0	1	0	0	0	7626	1087	38	1	382	1	IGSF21	1	18661448	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2029103	18661448	230589173	6	26581											
KPNA6	23633	genome.wustl.edu	37	chr1	32622990	32622990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagatgctcttttctgAtgattctgacctgcagttag	7	15	12	7	0	3	4	0	3	3	1	3	5	3	4	1	2	2	3	1	2	1	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:32622990A>G	ENST00000373625.3	+	4	368	c.275A>G	c.(274-276)gAt>gGt	p.D92G	KPNA6_ENST00000545542.1_Missense_Mutation_p.D97G|KPNA6_ENST00000537234.1_Missense_Mutation_p.D89G|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	92					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTCTTTTCTGATGATTCTGAC	0.443																																																	0													138	124	129					1																	32622990		2203	4300	6503	SO:0001583	missense	0			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"Importins", "Armadillo repeat containing"	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.275A>G	1.37:g.32622990A>G	ENSP00000362728:p.Asp92Gly		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D97G	ENST00000373625.3	37	c.290	CCDS352.1	1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166287	0.57476	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.35421	1.61;1.61;1.61;1.31	4.64	4.64	0.57946	Importin-alpha, importin-beta-binding domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.186487	0.56097	D	0.000027	T	0.30727	0.0774	L	0.39147	1.195	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.003;0.003	T	0.06391	-1.0829	10	0.30854	T	0.27	-4.9037	14.7747	0.69724	1.0:0.0:0.0:0.0	.	97;97;92	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	G	92;66;89;97;43	ENSP00000362728:D92G;ENSP00000444930:D89G;ENSP00000440609:D97G;ENSP00000415677:D43G	ENSP00000362719:D66G	D	+	2	0	KPNA6	32395577	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.101000	0.71479	2.042000	0.60477	0.459000	0.35465	GAT	KPNA6	-	pfam_Importin-a_IBB,superfamily_ARM-type_fold	ENSG00000025800		0.443	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	HGNC	protein_coding	OTTHUMT00000012527.4	-	0	101	0	A	NM_012316		32622990	1	tier1	-	no_errors	ENST00000545542	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	G	G	32622990	A	G	32622990	3	3	92	1	0	0	0	0	1	0	0	0	8461	333	12	4	289	4	KPNA6	1	32622990	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	13961542	32622990	216627631	7	26582											
YARS	8565	genome.wustl.edu	37	chr1	33241585	33241585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagatgctgggctggctaGctaatgttcccccctttcag	7	11	12	11	0	1	1	1	0	0	1	2	2	2	2	3	3	2	5	3	3	3	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:33241585G>A	ENST00000373477.4	-	13	2492	c.1584C>T	c.(1582-1584)agC>agT	p.S528S	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	528					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GGGCTGGCTAGCTAATGTTCC	0.507																																																	0													114	103	107					1																	33241585		2203	4300	6503	SO:0001819	synonymous_variant	0			U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"Aminoacyl tRNA synthetases / Class I"	12840	protein-coding gene	gene with protein product	"tyrosine tRNA ligase 1, cytoplasmic"	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.1584C>T	1.37:g.33241585G>A			B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase	p.S528	ENST00000373477.4	37	c.1584	CCDS368.1	1																																																																																			YARS	-	superfamily_NA-bd_OB-fold	ENSG00000134684		0.507	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS	HGNC	protein_coding	OTTHUMT00000011225.1		0	57	0	G	NM_003680		33241585	-1			no_errors	ENST00000373477	ensembl	human	known	74_37	silent	9.76	37	4	SNP	1.000	A	A	33241585	G	A	33241585	2	1	92	1	0	0	0	0	0	0	0	1	17516	962	34	3		3	YARS	1	33241585	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	618595	33241585	216009036	8	26583											
KIAA0467	23334	genome.wustl.edu	37	chr1	43908862	43908862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctcaaccctcagagcTggagcgccagatgaagatgg	11	6	12	12	1	2	4	2	1	0	3	2	5	2	5	3	2	4	1	3	2	2	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:43908862T>C	ENST00000562955.1	+	59	8252	c.8252T>C	c.(8251-8253)cTg>cCg	p.L2751P	SZT2_ENST00000372442.1_Missense_Mutation_p.L1909P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2808					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCCTCAGAGCTGGAGCGCCAG	0.567																																																	0													138	130	133					1																	43908862		2203	4300	6503	SO:0001583	missense	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"seizure threshold 2 homolog A (mouse)", "seizure threshold 2 homolog B (mouse)"	615463	"chromosome 1 open reading frame 84", "KIAA0467"	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8252T>C	1.37:g.43908862T>C	ENSP00000457168:p.Leu2751Pro		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.L2751P	ENST00000562955.1	37	c.8252	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.219140	0.39201	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.67	5.67	0.87782	.	0.152000	0.45361	D	0.000374	T	0.68568	0.3015	L	0.43152	1.355	0.48040	D	0.999571	D	0.76494	0.999	D	0.68943	0.961	T	0.68739	-0.5329	9	0.46703	T	0.11	.	15.9043	0.79412	0.0:0.0:0.0:1.0	.	2751	Q5T011-5	.	P	1909	.	ENSP00000361519:L1909P	L	+	2	0	SZT2	43681449	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	7.906000	0.87423	2.169000	0.68431	0.459000	0.35465	CTG	SZT2	-	NULL	ENSG00000198198		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	-	0	77	0	T	NM_015284		43908862	1	tier1	-	no_errors	ENST00000562955	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	C	C	43908862	T	C	43908862	3	2	92	1	0	0	0	0	1	0	0	0	8205	1580	55	4	5896	4	KIAA0467	1	43908862	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	10667277	43908862	205341759	9	26584											
C8B	732	genome.wustl.edu	37	chr1	57415411	57415411	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcttttaatatgaattcGtatttgccttgggtctaaag	10	18	7	6	1	2	1	0	1	2	0	3	1	2	1	1	1	2	1	1	1	7	9	rs138606922	byFrequency	TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:57415411G>T	ENST00000371237.4	-	6	747	c.681C>A	c.(679-681)taC>taA	p.Y227*	C8B_ENST00000535057.1_Nonsense_Mutation_p.Y165*|C8B_ENST00000543257.1_Nonsense_Mutation_p.Y175*	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	227	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)		p.Y227Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATATGAATTCGTATTTGCCTT	0.348																																																	1	Substitution - coding silent(1)	lung(1)											57	56	56					1																	57415411		2203	4299	6502	SO:0001587	stop_gained	0			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"Complement system"	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.681C>A	1.37:g.57415411G>T	ENSP00000360281:p.Tyr227*		A1L4K7	Nonsense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.Y227*	ENST00000371237.4	37	c.681	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.261939	0.95368	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	.	.	.	5.0	-4.86	0.03132	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2908	12.0924	0.53736	0.6367:0.0:0.3633:0.0	.	.	.	.	X	227;175;165	.	ENSP00000360281:Y227X	Y	-	3	2	C8B	57187999	0.999000	0.42202	0.969000	0.41365	0.186000	0.23388	0.722000	0.25925	-0.706000	0.05028	-1.366000	0.01203	TAC	C8B	-	NULL	ENSG00000021852		0.348	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	-	0	60	0	G			57415411	-1	tier1	-	no_errors	ENST00000371237	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	0.996	T	T	57415411	G	T	57415411	4	4	92	1	0	0	0	0	0	1	0	0	2424	1140	40	2	1122	2	C8B	1	57415411	Nonsense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	13506549	57415411	191835210	10	26585											
CGN	57530	genome.wustl.edu	37	chr1	151506465	151506465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccagatccagaggctgcgGcaggccctgcaggcatccca	8	4	13	16	1	0	2	0	0	0	2	2	2	2	2	4	4	2	4	4	4	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:151506465G>A	ENST00000271636.7	+	15	2890	c.2757G>A	c.(2755-2757)cgG>cgA	p.R919R		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	913					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGGCTGCGGCAGGCCCTGC	0.632																																																	0													31	34	33					1																	151506465		2145	4204	6349	SO:0001819	synonymous_variant	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2757G>A	1.37:g.151506465G>A			A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	pfam_Myosin_tail	p.R919	ENST00000271636.7	37	c.2757	CCDS999.1	1																																																																																			CGN	-	pfam_Myosin_tail	ENSG00000143375		0.632	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	-	0	54	0	G	NM_020770		151506465	1	tier1	-	no_errors	ENST00000271636	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	A	A	151506465	G	A	151506465	2	1	92	1	0	0	0	0	0	0	0	1	3310	1190	42	3		3	CGN	1	151506465	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	94091054	151506465	97744156	11	26586											
TDRKH	11022	genome.wustl.edu	37	chr1	151747924	151747924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttgagatcccagtctGgacatagctagagatcttgg	11	10	11	9	0	2	2	0	1	2	2	3	5	3	3	2	2	1	2	2	2	3	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:151747924G>T	ENST00000368822.1	-	10	2011	c.1378C>A	c.(1378-1380)Cag>Aag	p.Q460K	TDRKH_ENST00000368823.1_Missense_Mutation_p.Q456K|TDRKH_ENST00000458431.2_Missense_Mutation_p.Q460K|TDRKH_ENST00000368824.3_Missense_Mutation_p.Q460K|TDRKH_ENST00000368827.6_Missense_Mutation_p.Q460K|TDRKH_ENST00000368825.3_Missense_Mutation_p.Q415K|TDRKH_ENST00000440583.2_Missense_Mutation_p.Q236K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	460					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCCCAGTCTGGACATAGCTA	0.458																																																	0													155	146	149					1																	151747924		1952	4141	6093	SO:0001583	missense	0			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"Tudor domain containing"	11713	protein-coding gene	gene with protein product		609501	"tudor and KH domain containing"			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.1378C>A	1.37:g.151747924G>T	ENSP00000357812:p.Gln460Lys		D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.Q460K	ENST00000368822.1	37	c.1378	CCDS41394.1	1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401972	0.42613	.	.	ENSG00000182134	ENST00000368827;ENST00000368825;ENST00000368824;ENST00000368823;ENST00000368822;ENST00000458431;ENST00000440583	T;T;T;T;T;T;T	0.22539	2.3;1.96;2.3;2.3;2.3;2.3;1.95	5.92	5.92	0.95590	.	0.422401	0.28098	N	0.016619	T	0.07052	0.0179	L	0.39633	1.23	0.38951	D	0.958352	B;B;B	0.24483	0.104;0.094;0.01	B;B;B	0.19148	0.024;0.016;0.004	T	0.08680	-1.0710	10	0.09338	T	0.73	-2.9605	12.2355	0.54514	0.0778:0.0:0.9222:0.0	.	415;456;460	Q5SZR5;Q5SZR4;Q9Y2W6	.;.;TDRKH_HUMAN	K	460;415;460;456;460;460;236	ENSP00000357819:Q460K;ENSP00000357817:Q415K;ENSP00000357815:Q460K;ENSP00000357813:Q456K;ENSP00000357812:Q460K;ENSP00000395718:Q460K;ENSP00000416645:Q236K	ENSP00000357812:Q460K	Q	-	1	0	TDRKH	150014548	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.422000	0.66453	2.813000	0.96785	0.561000	0.74099	CAG	TDRKH	-	NULL	ENSG00000182134		0.458	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2	-	0	68	0	G	NM_006862		151747924	-1	tier1	-	no_errors	ENST00000368822	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	151747924	G	T	151747924	3	4	92	1	0	0	0	0	1	0	0	0	15784	1357	47	3	323	3	TDRKH	1	151747924	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	241459	151747924	97502697	12	26587											
FLG	2312	genome.wustl.edu	37	chr1	152279935	152279935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccaattgctcgtagtggGatccctgccttcctccactg	6	12	8	15	1	0	0	0	0	0	0	4	1	3	1	5	1	3	2	5	1	3	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:152279935G>T	ENST00000368799.1	-	3	7462	c.7427C>A	c.(7426-7428)tCc>tAc	p.S2476Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2476	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCGTAGTGGGATCCCTGCCT	0.577									Ichthyosis																																								0													366	338	348					1																	152279935		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7427C>A	1.37:g.152279935G>T	ENSP00000357789:p.Ser2476Tyr		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S2476Y	ENST00000368799.1	37	c.7427	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	8.609	0.888732	0.17540	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	3.41	-0.0236	0.13942	.	.	.	.	.	T	0.04048	0.0113	L	0.59967	1.855	0.09310	N	1	D	0.56287	0.975	P	0.60886	0.88	T	0.28073	-1.0055	9	0.41790	T	0.15	.	2.3074	0.04177	0.1177:0.1879:0.502:0.1925	.	2476	P20930	FILA_HUMAN	Y	2476	ENSP00000357789:S2476Y	ENSP00000357789:S2476Y	S	-	2	0	FLG	150546559	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.314000	0.19432	-0.247000	0.09597	0.306000	0.20318	TCC	FLG	-	NULL	ENSG00000143631		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	171	0	G	NM_002016		152279935	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	40.70	118	81	SNP	0.000	T	T	152279935	G	T	152279935	3	4	92	1	0	0	0	0	1	0	0	0	5944	1174	41	3	4762	3	FLG	1	152279935	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	532011	152279935	96970686	13	26588											
FLG2	388698	genome.wustl.edu	37	chr1	152327619	152327619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgttgtccaaagccagaGtattgacctgagcttgacct	10	11	9	11	0	0	4	0	3	0	1	1	4	1	4	5	0	2	3	5	0	2	4	rs386635465		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:152327619G>A	ENST00000388718.5	-	3	2715	c.2643C>T	c.(2641-2643)taC>taT	p.Y881Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	881	Ser-rich.		Y -> S (in dbSNP:rs12411129).		establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAGCCAGAGTATTGACCTG	0.493																																																	0													338	292	307					1																	152327619		2197	4260	6457	SO:0001819	synonymous_variant	0			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"EF-hand domain containing"	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2643C>T	1.37:g.152327619G>A			Q9H4U1	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.Y881	ENST00000388718.5	37	c.2643	CCDS30861.1	1																																																																																			FLG2	-	NULL	ENSG00000143520		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG2	HGNC	protein_coding	OTTHUMT00000034018.5	-	0	175	0	G	NM_001014342		152327619	-1	tier1	-	no_errors	ENST00000388718	ensembl	human	known	74_37	silent	37.93	107	66	SNP	0.000	A	A	152327619	G	A	152327619	2	1	92	1	0	0	0	0	0	0	0	1	5945	1024	36	3		3	FLG2	1	152327619	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	47684	152327619	96923002	14	26589											
LCE3E	353145	genome.wustl.edu	37	chr1	152538409	152538409	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcaggatctggatcaGcagcagcccccagaaccgtg	11	5	11	14	1	3	1	2	0	1	1	3	3	3	3	3	2	5	3	3	2	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:152538409G>T	ENST00000368789.1	-	2	331	c.276C>A	c.(274-276)tgC>tgA	p.C92*		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	92					keratinization (GO:0031424)					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		ATCTGGATCAGCAGCAGCCCC	0.607																																																	0													62	74	70					1																	152538409		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1013.1	1q21.3	2008-02-05			ENSG00000185966	ENSG00000185966		"Late cornified envelopes"	29463	protein-coding gene	gene with protein product		612617				11698679	Standard	NM_178435		Approved	LEP17	uc001faa.4	Q5T5B0	OTTHUMG00000012393	ENST00000368789.1:c.276C>A	1.37:g.152538409G>T	ENSP00000357778:p.Cys92*		A2RRM6	Nonsense_Mutation	SNP	NULL	p.C92*	ENST00000368789.1	37	c.276	CCDS1013.1	1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.283352	0.23392	.	.	ENSG00000185966	ENST00000368789	.	.	.	3.54	2.58	0.30949	.	.	.	.	.	.	.	.	.	.	.	0.46396	D	0.999025	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0382	0.30506	0.0:0.0:0.757:0.243	.	.	.	.	X	92	.	ENSP00000357778:C92X	C	-	3	2	LCE3E	150805033	1.000000	0.71417	0.949000	0.38748	0.061000	0.15899	1.060000	0.30530	0.764000	0.33197	0.557000	0.71058	TGC	LCE3E	-	NULL	ENSG00000185966		0.607	LCE3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE3E	HGNC	protein_coding	OTTHUMT00000034513.1	-	0	81	0	G	NM_178435		152538409	-1	tier1	-	no_errors	ENST00000368789	ensembl	human	known	74_37	nonsense	23.16	73	22	SNP	0.984	T	T	152538409	G	T	152538409	4	4	92	1	0	0	0	0	0	1	0	0	8701	963	34	3	6	3	LCE3E	1	152538409	Nonsense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	210790	152538409	96712212	15	26590											
RAB25	57111	genome.wustl.edu	37	chr1	156038211	156038211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtaacaaaagtgacctcagCcaggcccgggaagtgcccac	12	4	12	13	1	1	1	1	1	0	0	1	2	1	2	4	3	3	1	4	3	4	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:156038211C>T	ENST00000361084.5	+	3	631	c.390C>T	c.(388-390)agC>agT	p.S130S	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	130					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GTGACCTCAGCCAGGCCCGGG	0.587																																																	0													70	79	76					1																	156038211		2167	4270	6437	SO:0001819	synonymous_variant	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.390C>T	1.37:g.156038211C>T			Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S130	ENST00000361084.5	37	c.390	CCDS41413.1	1																																																																																			RAB25	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132698		0.587	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	HGNC	protein_coding	OTTHUMT00000046185.1		0	60	0	C			156038211	1			no_errors	ENST00000361084	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	156038211	C	T	156038211	2	4	92	1	0	0	0	0	0	0	0	1	12957	738	26	3		3	RAB25	1	156038211	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	3499802	156038211	93212410	16	26591											
ISG20L2	81875	genome.wustl.edu	37	chr1	156697415	156697415	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgggaggaggttccccAaaatccagattgagcagtaa	12	11	11	7	0	0	2	0	1	0	1	2	4	2	4	3	3	1	3	3	3	3	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:156697415A>C	ENST00000313146.6	-	1	812	c.30T>G	c.(28-30)ttT>ttG	p.F10L	RRNAD1_ENST00000368218.4_5'Flank|RRNAD1_ENST00000368216.4_5'Flank|RRNAD1_ENST00000524343.1_5'Flank|ISG20L2_ENST00000472824.2_5'Flank|ISG20L2_ENST00000368219.1_Missense_Mutation_p.F10L	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	10					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGTTCCCCAAAATCCAGAT	0.453																																																	0													68	76	73					1																	156697415		2203	4299	6502	SO:0001583	missense	0			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.30T>G	1.37:g.156697415A>C	ENSP00000323424:p.Phe10Leu		D3DVC6|Q64KA2	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.F10L	ENST00000313146.6	37	c.30	CCDS1153.1	1	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507665	0.64410	.	.	ENSG00000143319	ENST00000313146;ENST00000368219	T;T	0.34275	1.37;1.37	5.41	-1.0	0.10196	.	0.000000	0.47852	D	0.000215	T	0.11750	0.0286	L	0.32530	0.975	0.36722	D	0.881246	B	0.32781	0.384	B	0.38458	0.274	T	0.07712	-1.0758	10	0.46703	T	0.11	.	5.0537	0.14522	0.5068:0.1561:0.3371:0.0	.	10	Q9H9L3	I20L2_HUMAN	L	10	ENSP00000323424:F10L;ENSP00000357202:F10L	ENSP00000323424:F10L	F	-	3	2	ISG20L2	154964039	0.314000	0.24563	0.760000	0.31359	0.990000	0.78478	0.149000	0.16243	-0.333000	0.08476	-0.274000	0.10170	TTT	ISG20L2	-	NULL	ENSG00000143319		0.453	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20L2	HGNC	protein_coding	OTTHUMT00000098969.1		0	69	0	A	NM_030980		156697415	-1			no_errors	ENST00000313146	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.971	C	C	156697415	A	C	156697415	3	2	92	1	0	0	0	0	1	0	0	0	7882	127	5	4	1043	4	ISG20L2	1	156697415	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	659204	156697415	92553206	17	26592											
ATP1A4	480	genome.wustl.edu	37	chr1	160143923	160143923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaaagccattgtggtgCatggtgcagaactgaaggac	11	8	13	9	0	0	2	0	1	0	1	0	3	0	3	2	3	5	2	2	3	3	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:160143923C>T	ENST00000368081.4	+	14	2485	c.2014C>T	c.(2014-2016)Cat>Tat	p.H672Y	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	672					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			cattgtggtgcatggtgcaga	0.488																																																	0													105	98	100					1																	160143923		2203	4300	6503	SO:0001583	missense	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"ATPases / P-type"	14073	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-4", "sodium pump subunit alpha-4", "sodium-potassium ATPase catalytic subunit alpha-4"	607321	"ATPase, Na+/K+ transporting, alpha polypeptide-like 2"	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2014C>T	1.37:g.160143923C>T	ENSP00000357060:p.His672Tyr		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.H672Y	ENST00000368081.4	37	c.2014	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966350	0.53507	.	.	ENSG00000132681	ENST00000368081	D	0.97041	-4.22	4.27	4.27	0.50696	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	M	0.74467	2.265	0.80722	D	1	D	0.54397	0.966	P	0.52159	0.691	D	0.96338	0.9249	10	0.87932	D	0	.	9.7604	0.40528	0.2059:0.7941:0.0:0.0	.	672	Q13733	AT1A4_HUMAN	Y	672	ENSP00000357060:H672Y	ENSP00000357060:H672Y	H	+	1	0	ATP1A4	158410547	0.167000	0.22975	0.984000	0.44739	0.351000	0.29236	0.787000	0.26858	2.371000	0.80710	0.655000	0.94253	CAT	ATP1A4	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000132681		0.488	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	-	0	53	0	C	NM_144699		160143923	1	tier1	-	no_errors	ENST00000368081	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	160143923	C	T	160143923	3	4	92	1	0	0	0	0	1	0	0	0	1132	710	25	3	2068	3	ATP1A4	1	160143923	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	3446508	160143923	89106698	18	26593											
USF1	7391	genome.wustl.edu	37	chr1	161011971	161011971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctcagtttggccatccaGctgcccctcagacacctgga	7	9	8	17	0	2	1	2	0	0	1	4	2	4	2	6	2	2	2	6	2	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:161011971G>T	ENST00000368021.3	-	5	415	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	USF1_ENST00000435396.1_Missense_Mutation_p.L12M|USF1_ENST00000368019.1_Missense_Mutation_p.L71M|USF1_ENST00000368020.1_Missense_Mutation_p.L71M	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	71					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGGCCATCCAGCTGCCCCTCA	0.537																																																	0													77	69	71					1																	161011971		2203	4300	6503	SO:0001583	missense	0			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"Basic helix-loop-helix proteins"	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.211C>A	1.37:g.161011971G>T	ENSP00000357000:p.Leu71Met		B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L71M	ENST00000368021.3	37	c.211	CCDS1214.1	1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833076	0.50951	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000531842;ENST00000534633	D;D;D;D;D	0.95238	-3.37;-3.37;-3.65;-3.4;-2.9	4.74	3.8	0.43715	.	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	L	0.53249	1.67	0.45464	D	0.99843	P	0.39044	0.656	P	0.44732	0.459	D	0.90934	0.4792	10	0.48119	T	0.1	-9.114	12.8257	0.57718	0.0:0.1658:0.8342:0.0	.	71	P22415	USF1_HUMAN	M	71;71;12;71;71;12	ENSP00000356999:L71M;ENSP00000357000:L71M;ENSP00000390109:L12M;ENSP00000356998:L71M;ENSP00000435005:L71M	ENSP00000356998:L71M	L	-	1	2	USF1	159278595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.042000	0.49815	1.313000	0.45069	0.609000	0.83330	CTG	USF1	-	NULL	ENSG00000158773		0.537	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USF1	HGNC	protein_coding	OTTHUMT00000077050.1		0	73	0	G	NM_007122		161011971	-1			no_errors	ENST00000368020	ensembl	human	known	74_37	missense	6.06	61	4	SNP	1.000	T	T	161011971	G	T	161011971	3	4	92	1	0	0	0	0	1	0	0	0	17081	962	34	3	749	3	USF1	1	161011971	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	868048	161011971	88238650	19	26594											
XPR1	9213	genome.wustl.edu	37	chr1	180843070	180843070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtctttgccccacttgaGgttttccggtaagcaaacta	9	13	8	11	1	1	1	0	1	1	0	2	1	2	1	3	2	3	3	3	2	3	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:180843070G>T	ENST00000367590.4	+	13	1998	c.1800G>T	c.(1798-1800)gaG>gaT	p.E600D	XPR1_ENST00000367589.3_Missense_Mutation_p.E535D	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	600	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CCCCACTTGAGGTTTTCCGGT	0.358																																																	0													94	82	86					1																	180843070		2203	4300	6503	SO:0001583	missense	0			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"xenotropic and polytropic retrovirus receptor"			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1800G>T	1.37:g.180843070G>T	ENSP00000356562:p.Glu600Asp		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	pfam_EXS_C,pfam_SPX_N	p.E600D	ENST00000367590.4	37	c.1800	CCDS1340.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082018	0.76528	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	D;D	0.84298	-1.83;-1.83	5.43	3.54	0.40534	EXS, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92708	0.7682	M	0.90309	3.105	0.34318	D	0.686216	D;D	0.76494	0.985;0.999	P;D	0.75484	0.868;0.986	D	0.95734	0.8777	10	0.87932	D	0	-10.2424	11.7332	0.51750	0.1472:0.0:0.8528:0.0	.	535;600	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	D	600;535	ENSP00000356562:E600D;ENSP00000356561:E535D	ENSP00000356561:E535D	E	+	3	2	XPR1	179109693	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.669000	0.46825	1.299000	0.44798	0.650000	0.86243	GAG	XPR1	-	pfam_EXS_C	ENSG00000143324		0.358	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2		0	76	0	G	NM_004736		180843070	1			no_errors	ENST00000367590	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	180843070	G	T	180843070	3	4	92	1	0	0	0	0	1	0	0	0	17500	991	35	3	1850	3	XPR1	1	180843070	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	19831099	180843070	68407551	20	26595											
CACNA1E	777	genome.wustl.edu	37	chr1	181750615	181750615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgactctcatgtcacctCcgctaggcctcggcaagaga	8	9	10	14	2	2	2	2	1	1	1	5	3	3	2	3	2	1	3	3	2	2	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:181750615C>A	ENST00000367573.2	+	39	5320	c.5320C>A	c.(5320-5322)Ccg>Acg	p.P1774T	CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1725T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1381T|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1774T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1755T|CACNA1E_ENST00000526775.1_Missense_Mutation_p.P1755T	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1774	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATGTCACCTCCGCTAGGCCT	0.542																																																	0													34	34	34					1																	181750615		2049	4208	6257	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5320C>A	1.37:g.181750615C>A	ENSP00000356545:p.Pro1774Thr		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.P1774T	ENST00000367573.2	37	c.5320	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776926	0.90195	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.88592	0.3144	10	0.87932	D	0	.	19.4226	0.94727	0.0:1.0:0.0:0.0	.	1755;1774	Q15878-2;Q15878-3	.;.	T	1774;1755;1725;1381;1755;1774	ENSP00000356542:P1774T;ENSP00000434814:P1755T;ENSP00000350183:P1725T;ENSP00000356539:P1381T;ENSP00000353222:P1755T;ENSP00000356545:P1774T	ENSP00000350183:P1725T	P	+	1	0	CACNA1E	180017238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.684000	0.91462	0.650000	0.86243	CCG	CACNA1E	-	pfscan_EF_hand_dom	ENSG00000198216		0.542	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	66	0	C	NM_000721		181750615	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	A	A	181750615	C	A	181750615	3	1	92	1	0	0	0	0	1	0	0	0	2549	855	30	3	5474	3	CACNA1E	1	181750615	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	907545	181750615	67500006	21	26596											
APOBEC4	403314	genome.wustl.edu	37	chr1	183617423	183617423	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggttccatgctgaggcaGgaaagtccatctcagtatga	10	9	12	10	2	1	2	1	2	1	0	4	3	3	3	2	3	1	4	2	3	2	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:183617423G>T	ENST00000308641.4	-	2	765	c.494C>A	c.(493-495)cCt>cAt	p.P165H	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	165					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TGCTGAGGCAGGAAAGTCCAT	0.473																																																	0													65	70	68					1																	183617423		2203	4300	6503	SO:0001583	missense	0			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"Apolipoprotein B mRNA editing enzymes"	32152	protein-coding gene	gene with protein product		609908	"chromosome 1 open reading frame 169"	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.494C>A	1.37:g.183617423G>T	ENSP00000310622:p.Pro165His		Q8N7F6	Missense_Mutation	SNP	pfam_APOBEC_N	p.P165H	ENST00000308641.4	37	c.494	CCDS1358.1	1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515379	0.44763	.	.	ENSG00000173627	ENST00000308641	T	0.64438	-0.1	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000020	T	0.72236	0.3435	L	0.34521	1.04	0.43603	D	0.995961	D	0.89917	1.0	D	0.85130	0.997	T	0.75482	-0.3302	10	0.87932	D	0	-3.3548	18.5218	0.90956	0.0:0.0:1.0:0.0	.	165	Q8WW27	ABEC4_HUMAN	H	165	ENSP00000310622:P165H	ENSP00000310622:P165H	P	-	2	0	APOBEC4	181884046	1.000000	0.71417	0.953000	0.39169	0.084000	0.17831	4.678000	0.61641	2.472000	0.83506	0.655000	0.94253	CCT	APOBEC4	-	NULL	ENSG00000173627		0.473	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC4	HGNC	protein_coding	OTTHUMT00000086126.1	-	0	42	0	G	NM_203454		183617423	-1	tier1	-	no_errors	ENST00000308641	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.996	T	T	183617423	G	T	183617423	3	4	92	1	0	0	0	0	1	0	0	0	796	1000	35	3	613	3	APOBEC4	1	183617423	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1866808	183617423	65633198	22	26597											
PTPRC	5788	genome.wustl.edu	37	chr1	198687284	198687284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatagtatgcatgtcaaGtgtaggcctcccagggaccg	11	9	12	9	1	1	0	1	0	0	0	2	2	2	1	3	2	1	3	3	2	5	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:198687284G>T	ENST00000367376.2	+	14	1677	c.1506G>T	c.(1504-1506)aaG>aaT	p.K502N	PTPRC_ENST00000442510.2_Missense_Mutation_p.K504N|PTPRC_ENST00000352140.3_Missense_Mutation_p.K454N|PTPRC_ENST00000594404.1_Missense_Mutation_p.K341N|PTPRC_ENST00000348564.6_Missense_Mutation_p.K343N	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	502	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGCATGTCAAGTGTAGGCCTC	0.408																																																	0													82	78	79					1																	198687284		2203	4300	6503	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1506G>T	1.37:g.198687284G>T	ENSP00000356346:p.Lys502Asn		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.K504N	ENST00000367376.2	37	c.1512		1	.	.	.	.	.	.	.	.	.	.	G	8.474	0.858258	0.17178	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.56776	0.44	4.3	-8.6	0.00889	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.984470	0.02429	N	0.083405	T	0.42040	0.1185	M	0.61703	1.905	0.09310	N	1	B;B;B;B;B	0.26318	0.074;0.146;0.056;0.034;0.06	B;B;B;B;B	0.31495	0.103;0.131;0.048;0.029;0.029	T	0.30446	-0.9978	10	0.26408	T	0.33	.	0.4825	0.00550	0.2408:0.2021:0.3096:0.2476	.	438;438;343;454;502	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	N	504;438;454;454;388;502;436;341	ENSP00000193532:K454N	ENSP00000306782:K341N	K	+	3	2	PTPRC	196953907	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-5.061000	0.00155	-2.505000	0.00508	0.585000	0.79938	AAG	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000081237		0.408	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0	75	0	G			198687284	1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.000	T	T	198687284	G	T	198687284	3	4	92	1	0	0	0	0	1	0	0	0	12842	1020	36	3	1567	3	PTPRC	1	198687284	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	15069861	198687284	50563337	23	26598											
CNTN2	6900	genome.wustl.edu	37	chr1	205033765	205033765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagtgactgtaactcCagatggcaccttgatcataa	13	9	8	11	0	1	4	1	2	0	2	2	4	2	4	3	1	1	2	3	1	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:205033765C>T	ENST00000331830.4	+	12	1690	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	469	Ig-like C2-type 5.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.P469Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGTAACTCCAGATGGCACC	0.522																																					Melanoma(183;2548 2817 37099 41192)												1	Substitution - Missense(1)	lung(1)											124	105	112					1																	205033765		2203	4300	6503	SO:0001583	missense	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1406C>T	1.37:g.205033765C>T	ENSP00000330633:p.Pro469Leu		P78432|Q5T054	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P469L	ENST00000331830.4	37	c.1406	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356654	0.41801	.	.	ENSG00000184144	ENST00000331830	T	0.66099	-0.19	5.47	3.57	0.40892	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.739987	0.11914	N	0.517359	T	0.61274	0.2334	M	0.73217	2.22	0.44402	D	0.997317	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.58612	-0.7606	10	0.42905	T	0.14	.	11.5612	0.50778	0.0:0.8512:0.0:0.1488	.	469;360	Q02246;Q68DA2	CNTN2_HUMAN;.	L	469	ENSP00000330633:P469L	ENSP00000330633:P469L	P	+	2	0	CNTN2	203300388	0.566000	0.26618	0.841000	0.33234	0.943000	0.58893	3.025000	0.49681	1.285000	0.44548	0.561000	0.74099	CCA	CNTN2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000184144		0.522	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3		0	46	0	C	NM_005076		205033765	1			no_errors	ENST00000331830	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.997	T	T	205033765	C	T	205033765	3	4	92	1	0	0	0	0	1	0	0	0	3648	594	21	3	1448	3	CNTN2	1	205033765	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	6346481	205033765	44216856	24	26599											
GJC2	57165	genome.wustl.edu	37	chr1	228346575	228346575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcgaccgggacagttcGccgtgcgtcggcctccctgc	4	6	14	17	7	0	0	0	0	0	0	3	3	1	1	5	2	2	1	5	2	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:228346575G>A	ENST00000366714.2	+	2	1291	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	372					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GGGACAGTTCGCCGTGCGTCG	0.776																																																	0													1	2	2					1																	228346575		957	2249	3206	SO:0001819	synonymous_variant	0			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.1116G>A	1.37:g.228346575G>A			O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.S372	ENST00000366714.2	37	c.1116	CCDS1569.1	1																																																																																			GJC2	-	NULL	ENSG00000198835		0.776	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC2	HGNC	protein_coding	OTTHUMT00000095985.1	-	0	9	0	G	NM_020435		228346575	1	tier1	-	no_errors	ENST00000366714	ensembl	human	known	74_37	silent	55.56	4	5	SNP	0.328	A	A	228346575	G	A	228346575	2	1	92	1	0	0	0	0	0	0	0	1	6441	1074	38	1		1	GJC2	1	228346575	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	23312810	228346575	20904046	25	26600											
RBM34	23029	genome.wustl.edu	37	chr1	235318216	235318216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcttattacatgtaacagGcaaattcccaacaaacacag	16	10	4	11	0	1	0	0	0	1	0	2	0	2	0	1	1	4	2	1	1	6	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:235318216G>A	ENST00000408888.3	-	4	807	c.577C>T	c.(577-579)Cct>Tct	p.P193S	RBM34_ENST00000366606.3_Missense_Mutation_p.P188S			P42696	RBM34_HUMAN	RNA binding motif protein 34	193	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CATGTAACAGGCAAATTCCCA	0.333																																																	0													139	122	128					1																	235318216		1838	4092	5930	SO:0001583	missense	0				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"RNA binding motif (RRM) containing"	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.577C>T	1.37:g.235318216G>A	ENSP00000386226:p.Pro193Ser		A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P193S	ENST00000408888.3	37	c.577	CCDS41477.2	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368042	0.82463	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.78003	-1.14;-1.14;0.61	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048880	0.85682	D	0.000000	D	0.83408	0.5248	L	0.35341	1.055	0.80722	D	1	D;P	0.89917	1.0;0.752	D;P	0.97110	1.0;0.678	D	0.83463	0.0055	10	0.56958	D	0.05	-16.654	18.3552	0.90355	0.0:0.0:1.0:0.0	.	193;193	P42696-2;P42696	.;RBM34_HUMAN	S	193;188;191	ENSP00000386226:P193S;ENSP00000355565:P188S;ENSP00000400000:P191S	ENSP00000355565:P188S	P	-	1	0	RBM34	233384839	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	5.363000	0.66104	2.941000	0.99782	0.655000	0.94253	CCT	RBM34	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000188739		0.333	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM34	HGNC	protein_coding	OTTHUMT00000100146.1	-	0	111	0	G	NM_015014		235318216	-1	tier1	-	no_errors	ENST00000408888	ensembl	human	known	74_37	missense	5.05	94	5	SNP	1.000	A	A	235318216	G	A	235318216	3	1	92	1	0	0	0	0	1	0	0	0	13176	1203	42	3	768	3	RBM34	1	235318216	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	6971641	235318216	13932405	26	26601											
CHML	1122	genome.wustl.edu	37	chr1	241798619	241798619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttgcaggcatttcgtcGctattaaaatacgataactg	11	15	8	7	3	0	0	0	0	0	0	2	1	0	0	0	1	3	4	0	1	5	7			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:241798619G>T	ENST00000366553.1	-	1	613	c.450C>A	c.(448-450)agC>agA	p.S150R	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	150					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GCATTTCGTCGCTATTAAAAT	0.403																																																	0													155	156	156					1																	241798619		2203	4299	6502	SO:0001583	missense	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.450C>A	1.37:g.241798619G>T	ENSP00000355511:p.Ser150Arg		B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.S150R	ENST00000366553.1	37	c.450	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.409263	0.01155	.	.	ENSG00000203668	ENST00000366553	T	0.54479	0.57	4.43	1.53	0.23141	.	0.944991	0.08878	N	0.880512	T	0.35885	0.0947	.	.	.	0.09310	N	1	B	0.19445	0.036	B	0.20384	0.029	T	0.26916	-1.0089	9	0.37606	T	0.19	.	4.2521	0.10700	0.2068:0.1914:0.6017:0.0	.	150	P26374	RAE2_HUMAN	R	150	ENSP00000355511:S150R	ENSP00000355511:S150R	S	-	3	2	CHML	239865242	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.123000	0.10611	0.614000	0.30107	-0.143000	0.13931	AGC	CHML	-	pirsf_Rab_geranylTrfase_A_euk	ENSG00000203668		0.403	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1		0	51	0	G	NM_001821		241798619	-1			no_errors	ENST00000366553	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.000	T	T	241798619	G	T	241798619	3	4	92	1	0	0	0	0	1	0	0	0	3358	1078	38	2	1524	2	CHML	1	241798619	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	6480403	241798619	7452002	27	26602											
AKT3	10000	genome.wustl.edu	37	chr1	243801021	243801021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctttacctagtagtttCaaatagtcaaaatcattcat	13	15	5	8	0	4	0	4	0	0	0	4	0	4	0	2	0	2	2	2	0	7	7			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:243801021C>T	ENST00000366539.1	-	6	653	c.453G>A	c.(451-453)ttG>ttA	p.L151L	AKT3_ENST00000336199.5_Silent_p.L151L|AKT3_ENST00000263826.5_Silent_p.L151L|AKT3_ENST00000366540.1_Silent_p.L151L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CTAGTAGTTTCAAATAGTCAA	0.279																																																	0													74	72	73					1																	243801021		2201	4296	6497	SO:0001819	synonymous_variant	0			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"Pleckstrin homology (PH) domain containing"	393	protein-coding gene	gene with protein product	"protein kinase B, gamma"	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.453G>A	1.37:g.243801021C>T			Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom	p.L151	ENST00000366539.1	37	c.453	CCDS31077.1	1																																																																																			AKT3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000117020		0.279	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	-	0	111	0	C	NM_181690		243801021	-1	tier1	-	no_errors	ENST00000263826	ensembl	human	known	74_37	silent	20.29	55	14	SNP	1.000	T	T	243801021	C	T	243801021	2	4	92	1	0	0	0	0	0	0	0	1	481	825	29	3		3	AKT3	1	243801021	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2002402	243801021	5449600	28	26603											
NLRP3	114548	genome.wustl.edu	37	chr1	247587419	247587420	+	Frame_Shift_Ins	INS	-	-	G																															gtgcacaccgtggtgttccaINSgggggcggcagggattggga																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr1:247587419_247587420insG	ENST00000336119.3	+	3	1420_1421	c.674_675insG	c.(673-678)caggggfs	p.QG225fs	NLRP3_ENST00000366496.2_Frame_Shift_Ins_p.QG225fs|NLRP3_ENST00000348069.2_Frame_Shift_Ins_p.QG225fs|NLRP3_ENST00000366497.2_Frame_Shift_Ins_p.QG225fs|NLRP3_ENST00000391827.2_Frame_Shift_Ins_p.QG225fs|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Frame_Shift_Ins_p.QG225fs	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	225	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGGTGTTCCAGGGGGCGGCAG	0.535																																																	0																																										SO:0001589	frameshift_variant	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.679dupG	1.37:g.247587424_247587424dupG	ENSP00000337383:p.Gln225fs		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Frame_Shift_Ins	INS	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A227fs	ENST00000336119.3	37	c.674_675	CCDS1632.1	1																																																																																			NLRP3	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000162711		0.535	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1		0	50	0	-	NM_004895		247587420	1	tier1		no_errors	ENST00000336119	ensembl	human	known	74_37	frame_shift_ins	6.25	30	2	INS	1.000:1.000	G	G	247587420	-	G	247587419	7	5	92	1	0	1	1	0	0	0	0	0	10517	188	7	0	684	0	NLRP3	1	247587419	Frame_Shift_Ins	INS	-	TCGA-L5-A8NT-01A-11D-A37C-09	3786398	247587419	1663202	29	26604											
SNTG2	54221	genome.wustl.edu	37	chr2	1241751	1241751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcaccgactggctgcggGcggtctcagccaacatcagg	8	6	14	13	3	2	0	2	0	1	0	3	1	2	0	2	5	3	2	2	5	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:1241751G>A	ENST00000308624.5	+	10	940	c.811G>A	c.(811-813)Gcg>Acg	p.A271T	SNTG2_ENST00000407292.1_Missense_Mutation_p.A144T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	271					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTGGCTGCGGGCGGTCTCAGC	0.572																																																	0													30	34	33					2																	1241751		2187	4293	6480	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.811G>A	2.37:g.1241751G>A	ENSP00000311837:p.Ala271Thr		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A271T	ENST00000308624.5	37	c.811	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	G	5.344	0.248863	0.10130	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.59638	0.25;0.25	4.68	1.84	0.25277	.	0.306995	0.34777	N	0.003689	T	0.59376	0.2189	M	0.77103	2.36	0.09310	N	0.999998	P;P	0.45531	0.86;0.657	P;B	0.47075	0.536;0.255	T	0.53920	-0.8370	10	0.54805	T	0.06	.	6.0152	0.19598	0.1717:0.0:0.6772:0.1511	.	144;271	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	T	271;144	ENSP00000311837:A271T;ENSP00000385020:A144T	ENSP00000311837:A271T	A	+	1	0	SNTG2	1224302	0.946000	0.32159	0.000000	0.03702	0.004000	0.04260	2.683000	0.46943	0.138000	0.18790	-0.140000	0.14226	GCG	SNTG2	-	NULL	ENSG00000172554		0.572	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	57	0	G	NM_018968		1241751	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.097	A	A	1241751	G	A	1241751	3	1	92	1	0	0	0	0	1	0	0	0	14920	1203	42	3	849	3	SNTG2	2	1241751	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		1241751	241957622	30	26605											
RAB10	10890	genome.wustl.edu	37	chr2	26350735	26350735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagattgcaagggagcatgGtattaggttttttgagacta	11	15	12	3	0	0	2	0	1	0	2	0	4	0	3	0	3	2	4	0	3	5	8			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:26350735G>A	ENST00000264710.4	+	5	933	c.434G>A	c.(433-435)gGt>gAt	p.G145D	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	145					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGAGCATGGTATTAGGTTT	0.343																																																	0													160	153	155					2																	26350735		2203	4300	6503	SO:0001583	missense	0			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.434G>A	2.37:g.26350735G>A	ENSP00000264710:p.Gly145Asp		D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G145D	ENST00000264710.4	37	c.434	CCDS1720.1	2	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855465	0.71719	.	.	ENSG00000084733	ENST00000264710	D	0.81579	-1.51	5.45	5.45	0.79879	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80529	0.4640	L	0.56769	1.78	0.80722	D	1	B	0.17038	0.02	B	0.29663	0.105	T	0.77739	-0.2475	10	0.72032	D	0.01	.	16.3594	0.83251	0.0:0.0:1.0:0.0	.	145	P61026	RAB10_HUMAN	D	145	ENSP00000264710:G145D	ENSP00000264710:G145D	G	+	2	0	RAB10	26204239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.018000	0.93657	2.712000	0.92718	0.650000	0.86243	GGT	RAB10	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000084733		0.343	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB10	HGNC	protein_coding	OTTHUMT00000211610.1	-	0	88	0	G	NM_016131		26350735	1	tier1	-	no_errors	ENST00000264710	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	26350735	G	A	26350735	3	1	92	1	0	0	0	0	1	0	0	0	12935	1261	44	3	452	3	RAB10	2	26350735	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	25108984	26350735	216848638	31	26606											
C2orf71	388939	genome.wustl.edu	37	chr2	29295183	29295183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgccattgggccacaCggcggctgctctgggctgca	5	7	16	13	2	1	0	0	0	1	0	1	0	1	0	2	5	3	5	2	5	0	1	rs376195796		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:29295183C>T	ENST00000331664.5	-	1	1944	c.1945G>A	c.(1945-1947)Gtg>Atg	p.V649M		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	649					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGGGCCACACGGCGGCTGCT	0.582																																																	0								C	MET/VAL	2,4150		0,2,2074	89	90	90		1945	-5.3	0	2		90	0,8400		0,0,4200	no	missense	C2orf71	NM_001029883.1	21	0,2,6274	TT,TC,CC		0.0,0.0482,0.0159	possibly-damaging	649/1289	29295183	2,12550	2076	4200	6276	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1945G>A	2.37:g.29295183C>T	ENSP00000332809:p.Val649Met			Missense_Mutation	SNP	NULL	p.V649M	ENST00000331664.5	37	c.1945	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	5.001	0.185845	0.09495	4.82E-4	0.0	ENSG00000179270	ENST00000331664	T	0.19250	2.16	5.77	-5.35	0.02697	.	1.415110	0.04392	N	0.362564	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	1	P	0.44344	0.833	B	0.29942	0.109	T	0.25882	-1.0119	10	0.37606	T	0.19	-0.271	0.53	0.00626	0.2319:0.2654:0.157:0.3457	.	649	A6NGG8	CB071_HUMAN	M	649	ENSP00000332809:V649M	ENSP00000332809:V649M	V	-	1	0	C2orf71	29148687	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.594000	0.05733	-0.752000	0.04728	-1.195000	0.01675	GTG	C2orf71	-	NULL	ENSG00000179270		0.582	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3		0	44	0	C	NM_001029883		29295183	-1			no_errors	ENST00000331664	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.000	T	T	29295183	C	T	29295183	3	4	92	1	0	0	0	0	1	0	0	0	2198	536	19	1	1929	1	C2orf71	2	29295183	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2944448	29295183	213904190	32	26607											
DYSF	8291	genome.wustl.edu	37	chr2	71766292	71766292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccttgctctagggaccGcctgactcacaatgacatcg	8	9	9	15	2	2	2	1	2	1	0	4	3	3	3	3	1	1	2	3	1	2	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:71766292G>A	ENST00000258104.3	+	16	1680	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	DYSF_ENST00000410041.1_Missense_Mutation_p.R500H|DYSF_ENST00000413539.2_Missense_Mutation_p.R499H|DYSF_ENST00000409762.1_Missense_Mutation_p.R499H|DYSF_ENST00000409744.1_Missense_Mutation_p.R469H|DYSF_ENST00000409582.3_Missense_Mutation_p.R499H|DYSF_ENST00000410020.3_Missense_Mutation_p.R500H|DYSF_ENST00000429174.2_Missense_Mutation_p.R468H|DYSF_ENST00000409651.1_Missense_Mutation_p.R500H|DYSF_ENST00000409366.1_Missense_Mutation_p.R469H|DYSF_ENST00000394120.2_Missense_Mutation_p.R469H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	468	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.R468H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTAGGGACCGCCTGACTCAC	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											148	125	133					2																	71766292		2203	4300	6503	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1403G>A	2.37:g.71766292G>A	ENSP00000258104:p.Arg468His		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.R499H	ENST00000258104.3	37	c.1496	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996373	0.74818	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.05	5.05	0.67936	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.054859	0.64402	D	0.000001	D	0.87297	0.6142	M	0.92555	3.32	0.47245	D	0.999362	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.996;0.997;0.997;0.997;0.993;0.998;0.997;1.0;0.993;0.996;0.997	D	0.88162	0.2858	10	0.42905	T	0.14	-23.904	16.309	0.82862	0.0:0.0:1.0:0.0	.	500;500;469;469;500;469;499;468;499;499;468;468;469;468	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	499;499;499;468;468;500;469;469;469;500;500	ENSP00000407046:R499H;ENSP00000387137:R499H;ENSP00000386547:R499H;ENSP00000398305:R468H;ENSP00000258104:R468H;ENSP00000386683:R500H;ENSP00000377678:R469H;ENSP00000386285:R469H;ENSP00000386512:R469H;ENSP00000386881:R500H;ENSP00000386617:R500H	ENSP00000258104:R468H	R	+	2	0	DYSF	71619800	1.000000	0.71417	1.000000	0.80357	0.537000	0.34900	7.805000	0.86005	2.786000	0.95864	0.563000	0.77884	CGC	DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000135636		0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3		0	65	0	G	NM_003494		71766292	1			no_errors	ENST00000413539	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	71766292	G	A	71766292	3	1	92	1	0	0	0	0	1	0	0	0	4873	1087	38	1	1657	1	DYSF	2	71766292	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	42471109	71766292	171433081	33	26608											
SPR	6697	genome.wustl.edu	37	chr2	73115449	73115449	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttggtttttcaggctctcTtggggatgtgtccaaaggct	5	15	14	7	0	2	0	1	0	1	0	4	1	3	1	1	6	0	4	1	6	1	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:73115449T>A	ENST00000234454.5	+	2	384	c.311T>A	c.(310-312)cTt>cAt	p.L104H	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	104					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)			lung(4)|ovary(2)	6						TCAGGCTCTCTTGGGGATGTG	0.537											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118	119	119					2																	73115449		2203	4300	6503	SO:0001583	missense	0				CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"	11257	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 38C, member 1"	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.311T>A	2.37:g.73115449T>A	ENSP00000234454:p.Leu104His	1142	A8K741|D6W5H2|Q53GI9|Q9UBB1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red	p.L104H	ENST00000234454.5	37	c.311	CCDS1920.1	2	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259857	0.80246	.	.	ENSG00000116096	ENST00000234454	D	0.90676	-2.71	5.62	4.43	0.53597	NAD(P)-binding domain (1);	0.239015	0.36303	N	0.002675	D	0.94591	0.8257	M	0.78456	2.415	0.54753	D	0.999983	D	0.76494	0.999	D	0.85130	0.997	D	0.94347	0.7576	10	0.87932	D	0	-2.8836	11.587	0.50925	0.0:0.0:0.1496:0.8504	.	104	P35270	SPRE_HUMAN	H	104	ENSP00000234454:L104H	ENSP00000234454:L104H	L	+	2	0	SPR	72968957	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.552000	0.82192	0.922000	0.37019	0.459000	0.35465	CTT	SPR	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_Sepiapterin_red	ENSG00000116096		0.537	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPR	HGNC	protein_coding	OTTHUMT00000251993.2		0	81	0	T			73115449	1			no_errors	ENST00000234454	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	73115449	T	A	73115449	3	1	92	1	0	0	0	0	1	0	0	0	15138	1609	56	5	317	5	SPR	2	73115449	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	1349157	73115449	170083924	34	26609											
PCGF1	84759	genome.wustl.edu	37	chr2	74733931	74733931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtttgaggttgagcagtgGctgtgtctcgtggatcttaa	7	14	14	6	1	2	2	0	2	2	0	3	3	2	3	0	3	1	4	0	3	1	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:74733931G>T	ENST00000233630.6	-	3	1191	c.280C>A	c.(280-282)Cca>Aca	p.P94T	LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR|LBX2-AS1_ENST00000548978.2_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	94	Required for repressor activity.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TTGAGCAGTGGCTGTGTCTCG	0.502																																																	0													153	133	140					2																	74733931		2203	4300	6503	SO:0001583	missense	0			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"RING-type (C3HC4) zinc fingers", "Polycomb group ring fingers"	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.280C>A	2.37:g.74733931G>T	ENSP00000233630:p.Pro94Thr		Q7Z506	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P94T	ENST00000233630.6	37	c.280	CCDS1946.2	2	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324324	0.81580	.	.	ENSG00000115289	ENST00000233630	T	0.17054	2.3	5.69	4.82	0.62117	Zinc finger, RING/FYVE/PHD-type (1);	0.056713	0.64402	D	0.000001	T	0.45094	0.1325	M	0.87097	2.86	0.50813	D	0.999891	D	0.89917	1.0	D	0.83275	0.996	T	0.50423	-0.8830	10	0.87932	D	0	-9.4608	10.3893	0.44158	0.0894:0.0:0.9106:0.0	.	94	Q9BSM1	PCGF1_HUMAN	T	94	ENSP00000233630:P94T	ENSP00000233630:P94T	P	-	1	0	PCGF1	74587439	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.331000	0.96430	1.413000	0.46997	0.655000	0.94253	CCA	PCGF1	-	NULL	ENSG00000115289		0.502	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF1	HGNC	protein_coding	OTTHUMT00000252216.1		0	90	0	G	NM_032673		74733931	-1			no_errors	ENST00000233630	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	74733931	G	T	74733931	3	4	92	1	0	0	0	0	1	0	0	0	11613	1203	42	3	527	3	PCGF1	2	74733931	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1618482	74733931	168465442	35	26610											
HK2	3099	genome.wustl.edu	37	chr2	75094808	75094808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggagggaccaacttccGtgtgctttgggtgaaagtaa	9	12	13	7	1	1	1	0	1	1	0	2	3	2	3	2	3	2	2	2	3	3	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:75094808G>A	ENST00000290573.2	+	3	872	c.272G>A	c.(271-273)cGt>cAt	p.R91H	HK2_ENST00000409174.1_Missense_Mutation_p.R63H	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	91	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ACCAACTTCCGTGTGCTTTGG	0.512																																																	0													259	267	264					2																	75094808		2203	4300	6503	SO:0001583	missense	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.272G>A	2.37:g.75094808G>A	ENSP00000290573:p.Arg91His		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R91H	ENST00000290573.2	37	c.272	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.484518	0.96323	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99479	-5.98;-5.98	5.34	5.34	0.76211	Hexokinase, N-terminal (1);	0.050333	0.85682	D	0.000000	D	0.99281	0.9749	H	0.96080	3.765	0.80722	D	1	B	0.16396	0.017	B	0.14578	0.011	D	0.97925	1.0317	10	0.72032	D	0.01	-13.8452	16.5892	0.84760	0.0:0.0:1.0:0.0	.	91	P52789	HXK2_HUMAN	H	91;91;63	ENSP00000290573:R91H;ENSP00000387140:R63H	ENSP00000290573:R91H	R	+	2	0	HK2	74948316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.785000	0.95823	0.655000	0.94253	CGT	HK2	-	pfam_Hexokinase_N	ENSG00000159399		0.512	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	-	0	107	0	G	NM_000189		75094808	1	tier1	-	no_errors	ENST00000290573	ensembl	human	known	74_37	missense	13.54	81	13	SNP	1.000	A	A	75094808	G	A	75094808	3	1	92	1	0	0	0	0	1	0	0	0	7218	1145	40	1	282	1	HK2	2	75094808	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	360877	75094808	168104565	36	26611											
GPAT2	150763	genome.wustl.edu	37	chr2	96690074	96690074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcctgccagcagcccccGcactgcacaggctgggggcg	5	5	14	17	2	1	0	0	0	1	0	1	0	1	0	4	3	5	4	4	3	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:96690074G>A	ENST00000434632.1	-	17	2140	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	GPAT2_ENST00000377137.3_Missense_Mutation_p.R561W|GPAT2_ENST00000453542.1_Missense_Mutation_p.R490W|FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.R561W			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	561					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGCAGCCCCCGCACTGCACAG	0.637																																																	0													13	16	15					2																	96690074		1899	4044	5943	SO:0001583	missense	0			BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"cancer/testis antigen 123"					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.1681C>T	2.37:g.96690074G>A	ENSP00000389395:p.Arg561Trp		Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	smart_Plipid/glycerol_acylTrfase	p.R561W	ENST00000434632.1	37	c.1681	CCDS42714.1	2	.	.	.	.	.	.	.	.	.	.	g	15.92	2.975919	0.53720	.	.	ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542;ENST00000377137	T;T;T;T	0.77877	-1.12;-1.12;-0.12;-1.13	5.41	2.59	0.31030	.	0.167585	0.41938	D	0.000794	T	0.80934	0.4719	L	0.54323	1.7	0.30160	N	0.802285	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;P;P;P;D	0.74674	0.984;0.897;0.857;0.891;0.978	T	0.74047	-0.3790	10	0.38643	T	0.18	-33.1395	5.4042	0.16312	0.172:0.0:0.6691:0.1589	.	490;561;567;561;490	E9PE95;Q6NUI2-3;Q6NUI2-4;Q6NUI2;B4DNZ9	.;.;.;GPAT2_HUMAN;.	W	561;561;490;561	ENSP00000352547:R561W;ENSP00000389395:R561W;ENSP00000393770:R490W;ENSP00000366341:R561W	ENSP00000352547:R561W	R	-	1	2	GPAT2	96053801	0.009000	0.17119	0.858000	0.33744	0.839000	0.47603	0.876000	0.28092	0.248000	0.21435	0.637000	0.83480	CGG	GPAT2	-	NULL	ENSG00000186281		0.637	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAT2	HGNC	protein_coding	OTTHUMT00000338786.1	-	0	71	0	G	NM_207328		96690074	-1	tier1	-	no_errors	ENST00000359548	ensembl	human	known	74_37	missense	26.32	42	15	SNP	0.832	A	A	96690074	G	A	96690074	3	1	92	1	0	0	0	0	1	0	0	0	6615	1086	38	1	734	1	GPAT2	2	96690074	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	21595266	96690074	146509299	37	26612											
POLR1B	84172	genome.wustl.edu	37	chr2	113325658	113325658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactccttgtagactggtaCggcctgtgcagaacttagca	9	10	10	12	1	0	2	0	0	0	2	1	2	1	2	3	2	4	4	3	2	4	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:113325658C>T	ENST00000263331.5	+	11	2441	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	POLR1B_ENST00000417433.2_Missense_Mutation_p.R565W|POLR1B_ENST00000541869.1_Missense_Mutation_p.R659W|POLR1B_ENST00000409894.3_Missense_Mutation_p.R438W|POLR1B_ENST00000537335.1_Missense_Mutation_p.R410W	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	621					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TAGACTGGTACGGCCTGTGCA	0.433																																					Ovarian(16;256 576 9537 23969 41147)												0													215	190	198					2																	113325658		2203	4300	6503	SO:0001583	missense	0			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"RNA polymerase subunits"	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1861C>T	2.37:g.113325658C>T	ENSP00000263331:p.Arg621Trp		B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5	p.R659W	ENST00000263331.5	37	c.1975	CCDS2097.1	2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766759	0.69878	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433;ENST00000458012	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.53	2.66	0.31614	RNA polymerase I, Rpa2 specific (1);	0.121231	0.56097	N	0.000025	D	0.93396	0.7894	M	0.91972	3.26	0.80722	D	1	D;B;D;D	0.89917	1.0;0.014;1.0;1.0	D;B;D;D	0.97110	1.0;0.006;1.0;1.0	D	0.91538	0.5247	10	0.87932	D	0	-19.2176	7.5496	0.27788	0.3028:0.6177:0.0:0.0795	.	659;438;565;621	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	W	621;659;438;410;565;85	ENSP00000263331:R621W;ENSP00000444136:R659W;ENSP00000387143:R438W;ENSP00000437914:R410W;ENSP00000405358:R565W;ENSP00000394408:R85W	ENSP00000263331:R621W	R	+	1	2	POLR1B	113042129	0.999000	0.42202	0.449000	0.26957	0.996000	0.88848	3.617000	0.54181	0.251000	0.21505	0.563000	0.77884	CGG	POLR1B	-	pfam_RNA_pol_Rpa2-specific	ENSG00000125630		0.433	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1B	HGNC	protein_coding	OTTHUMT00000254083.1	-	0	83	0	C	NM_019014		113325658	1	tier1	-	no_errors	ENST00000541869	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.860	T	T	113325658	C	T	113325658	3	4	92	1	0	0	0	0	1	0	0	0	12249	527	19	1	1903	1	POLR1B	2	113325658	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	16635584	113325658	129873715	38	26613											
STEAP3	55240	genome.wustl.edu	37	chr2	120012354	120012354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctggccctcggcacgttgtCcctgctggccgtgacctcac	3	9	12	17	3	1	1	1	1	0	0	3	1	2	1	4	3	1	4	4	3	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:120012354C>T	ENST00000354888.5	+	5	1619	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	STEAP3_ENST00000393106.2_Missense_Mutation_p.S372F|STEAP3_ENST00000425223.2_Missense_Mutation_p.S372F|STEAP3_ENST00000450943.2_Missense_Mutation_p.S372F|STEAP3_ENST00000409811.1_Missense_Mutation_p.S372F|STEAP3_ENST00000393110.2_Missense_Mutation_p.S382F|STEAP3_ENST00000393107.2_Missense_Mutation_p.S372F|STEAP3_ENST00000393108.2_Missense_Mutation_p.S372F	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	372	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GGCACGTTGTCCCTGCTGGCC	0.592																																																	0													114	98	104					2																	120012354		2203	4300	6503	SO:0001583	missense	0			AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.1115C>T	2.37:g.120012354C>T	ENSP00000346961:p.Ser372Phe		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	pfam_Fe3_Rdtase_TM_dom	p.S382F	ENST00000354888.5	37	c.1145	CCDS2125.1	2	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788281	0.90367	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223;ENST00000546236	D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.29	5.29	0.74685	Flavoprotein transmembrane component (1);	0.068992	0.64402	D	0.000011	D	0.92407	0.7590	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.81914	0.995;0.995;0.977	D	0.91098	0.4912	9	.	.	.	-42.322	18.0968	0.89493	0.0:1.0:0.0:0.0	.	372;382;372	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	F	372;372;372;382;372;372;372;372;16	ENSP00000376820:S372F;ENSP00000346961:S372F;ENSP00000396873:S372F;ENSP00000376822:S382F;ENSP00000376818:S372F;ENSP00000386510:S372F;ENSP00000376819:S372F;ENSP00000396214:S372F	.	S	+	2	0	STEAP3	119728824	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.753000	0.62183	2.756000	0.94617	0.561000	0.74099	TCC	STEAP3	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000115107		0.592	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP3	HGNC	protein_coding	OTTHUMT00000254193.1		0	78	0	C	NM_018234		120012354	1			no_errors	ENST00000393110	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	120012354	C	T	120012354	3	4	92	1	0	0	0	0	1	0	0	0	15326	855	30	3	1159	3	STEAP3	2	120012354	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	6686696	120012354	123187019	39	26614											
ZEB2	9839	genome.wustl.edu	37	chr2	145147113	145147113	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggagtgatctccagtctCttcttcatctcgtatcgttt	6	17	7	11	2	5	1	1	1	4	0	9	2	5	2	1	1	0	2	1	1	1	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:145147113C>G	ENST00000558170.2	-	10	4734	c.3550G>C	c.(3550-3552)Gag>Cag	p.E1184Q	ZEB2_ENST00000303660.4_Missense_Mutation_p.E1184Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1160Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1184Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1184	Glu-rich (acidic).				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCCAGTCTCTTCTTCATCT	0.463																																					Melanoma(33;1235 1264 5755 16332)												0													266	250	256					2																	145147113		2203	4300	6503	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	14881	protein-coding gene	gene with protein product	"SMAD interacting protein 1"	605802	"zinc finger homeobox 1b"	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3550G>C	2.37:g.145147113C>G	ENSP00000454157:p.Glu1184Gln		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.E1184Q	ENST00000558170.2	37	c.3550	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588883	0.86851	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.16324	2.37;2.35;2.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.12263	0.0298	N	0.08118	0	0.80722	D	1	B;B;B	0.32573	0.376;0.259;0.259	B;B;B	0.31751	0.135;0.064;0.064	T	0.18053	-1.0349	10	0.87932	D	0	-11.2078	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1160;1183;1184	F5H814;A0JP08;O60315	.;.;ZEB2_HUMAN	Q	1160;1184;1184	ENSP00000443792:E1160Q;ENSP00000302501:E1184Q;ENSP00000386854:E1184Q	ENSP00000302501:E1184Q	E	-	1	0	ZEB2	144863583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.746000	0.94184	0.591000	0.81541	GAG	ZEB2	-	NULL	ENSG00000169554		0.463	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	-	0	82	0	C	NM_014795		145147113	-1	tier1	-	no_errors	ENST00000303660	ensembl	human	known	74_37	missense	13.89	62	10	SNP	1.000	G	G	145147113	C	G	145147113	3	3	92	1	0	0	0	0	1	0	0	0	17672	922	32	5	98	5	ZEB2	2	145147113	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	25134759	145147113	98052260	40	26615											
BAZ2B	29994	genome.wustl.edu	37	chr2	160205695	160205695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccctaaccccgatcctaGactaggtacagatgatgtaa	14	9	7	11	1	0	3	0	1	0	2	1	4	1	3	4	1	3	2	4	1	6	6	rs372805282		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:160205695G>T	ENST00000392783.2	-	29	5455	c.4960C>A	c.(4960-4962)Cta>Ata	p.L1654I	BAZ2B_ENST00000392782.1_Missense_Mutation_p.L1618I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.L1620I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.L1554I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1654					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCCGATCCTAGACTAGGTACA	0.408																																																	0													124	114	117					2																	160205695		1861	4108	5969	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4960C>A	2.37:g.160205695G>T	ENSP00000376534:p.Leu1654Ile		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.L1654I	ENST00000392783.2	37	c.4960	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	6.858	0.527666	0.13127	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.61274	0.17;0.16;0.17;0.12	5.47	2.59	0.31030	.	0.000000	0.29876	U	0.010973	T	0.46092	0.1375	L	0.57536	1.79	0.32739	N	0.507957	B;B	0.22276	0.002;0.067	B;B	0.18263	0.003;0.021	T	0.52079	-0.8623	10	0.54805	T	0.06	-4.5253	2.5006	0.04632	0.1443:0.1274:0.4709:0.2574	.	1618;1654	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	I	1618;1654;1620;1554	ENSP00000376533:L1618I;ENSP00000376534:L1654I;ENSP00000348087:L1620I;ENSP00000339670:L1554I	ENSP00000339670:L1554I	L	-	1	2	BAZ2B	159913941	0.983000	0.35010	0.998000	0.56505	0.589000	0.36550	0.287000	0.18920	0.753000	0.32945	0.591000	0.81541	CTA	BAZ2B	-	NULL	ENSG00000123636		0.408	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2		0	33	0	G			160205695	-1			no_errors	ENST00000392783	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.987	T	T	160205695	G	T	160205695	3	4	92	1	0	0	0	0	1	0	0	0	1333	933	33	3	1582	3	BAZ2B	2	160205695	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	15058582	160205695	82993678	41	26616											
TANK	10010	genome.wustl.edu	37	chr2	162087607	162087607	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctgtcacaccaagaGgactgtgcagagatgaggaa	14	7	11	9	0	3	3	2	1	1	2	3	6	3	5	1	2	1	1	1	2	2	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:162087607G>T	ENST00000392749.2	+	7	885	c.646G>T	c.(646-648)Gga>Tga	p.G216*	AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Nonsense_Mutation_p.G216*|TANK_ENST00000259075.2_Nonsense_Mutation_p.G216*|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	216					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.G216*(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CACACCAAGAGGACTGTGCAG	0.403																																																	1	Substitution - Nonsense(1)	lung(1)											117	110	112					2																	162087607		2203	4300	6503	SO:0001587	stop_gained	0			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.646G>T	2.37:g.162087607G>T	ENSP00000376505:p.Gly216*		D3DPB5|Q7Z4J6|Q92885	Nonsense_Mutation	SNP	NULL	p.G216*	ENST00000392749.2	37	c.646	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111088	0.77210	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623	.	.	.	5.78	5.78	0.91487	.	0.054502	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.2046	20.3754	0.98918	0.0:0.0:1.0:0.0	.	.	.	.	X	216;216;216;107	.	ENSP00000259075:G216X	G	+	1	0	TANK	161795853	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.770000	0.85390	2.894000	0.99253	0.591000	0.81541	GGA	TANK	-	NULL	ENSG00000136560		0.403	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1		0	54	0	G	NM_133484		162087607	1			no_errors	ENST00000259075	ensembl	human	known	74_37	nonsense	7.14	26	2	SNP	1.000	T	T	162087607	G	T	162087607	4	4	92	1	0	0	0	0	0	1	0	0	15593	1001	35	3	701	3	TANK	2	162087607	Nonsense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1881912	162087607	81111766	42	26617											
SPC25	57405	genome.wustl.edu	37	chr2	169746017	169746017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatcgaaaagtgccagttCgtcctctaccattatgtagg	10	14	8	9	2	1	0	0	0	1	0	4	1	2	0	3	1	2	2	3	1	6	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:169746017C>T	ENST00000282074.2	-	2	154	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	5	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E5K(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						AGTGCCAGTTCGTCCTCTACC	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											55	51	53					2																	169746017		2203	4300	6503	SO:0001583	missense	0			AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.13G>A	2.37:g.169746017C>T	ENSP00000282074:p.Glu5Lys		A8K4X8|D3DPC0	Missense_Mutation	SNP	pfam_Spc25	p.E5K	ENST00000282074.2	37	c.13	CCDS2229.1	2	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319099	0.23994	.	.	ENSG00000152253	ENST00000282074;ENST00000451987	.	.	.	6.16	5.28	0.74379	.	0.198673	0.52532	D	0.000075	T	0.35828	0.0945	L	0.34521	1.04	0.33383	D	0.57512	P	0.45902	0.868	B	0.37833	0.259	T	0.52388	-0.8582	9	0.37606	T	0.19	-13.641	13.6064	0.62050	0.0:0.8449:0.1551:0.0	.	5	Q9HBM1	SPC25_HUMAN	K	5	.	ENSP00000282074:E5K	E	-	1	0	SPC25	169454263	0.971000	0.33674	0.168000	0.22838	0.015000	0.08874	2.481000	0.45215	1.604000	0.50143	-0.182000	0.12963	GAA	SPC25	-	NULL	ENSG00000152253		0.363	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPC25	HGNC	protein_coding	OTTHUMT00000255233.2		0	28	0	C	NM_020675		169746017	-1			no_errors	ENST00000282074	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.581	T	T	169746017	C	T	169746017	3	4	92	1	0	0	0	0	1	0	0	0	15069	893	31	1	685	1	SPC25	2	169746017	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	7658410	169746017	73453356	43	26618											
ITGA6	3655	genome.wustl.edu	37	chr2	173368930	173368931	+	Frame_Shift_Ins	INS	-	-	A																															aaagtatattgataaccttgINSaaaaaaaacagtggatcaca																								rs201055917	byFrequency	TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:173368930_173368931insA	ENST00000264106.6	+	26	3546_3547	c.3343_3344insA	c.(3343-3345)gaafs	p.E1115fs	AC093818.1_ENST00000450443.1_RNA|ITGA6_ENST00000409532.1_3'UTR|ITGA6_ENST00000343713.4_3'UTR|ITGA6_ENST00000375221.2_3'UTR|ITGA6_ENST00000409080.1_Frame_Shift_Ins_p.E1076fs|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264107.7_3'UTR			P23229	ITA6_HUMAN	integrin, alpha 6	1115					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGATAACCTTGAAAAAAAACAG	0.406													AaAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	6	0.00119808	0	0	5008	,	,		17705	0.005		0	False		,,,				2504	0.001																0																																										SO:0001589	frameshift_variant	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.3351dupA	2.37:g.173368938_173368938dupA	ENSP00000264106:p.Glu1115fs		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Frame_Shift_Ins	INS	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.Q1118fs	ENST00000264106.6	37	c.3343_3344		2																																																																																			ITGA6	-	NULL	ENSG00000091409		0.406	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding			0	36	0	-			173368931	1	tier1		no_errors	ENST00000264106	ensembl	human	known	74_37	frame_shift_ins	46.88	17	15	INS	1.000:1.000	A	A	173368931	-	A	173368930	7	5	92	1	0	1	1	0	0	0	0	0	7907	1291	45	0	3436	0	ITGA6	2	173368930	Frame_Shift_Ins	INS	-	TCGA-L5-A8NT-01A-11D-A37C-09	3622913	173368930	69830443	44	26619											
TTN	7273	genome.wustl.edu	37	chr2	179447301	179447301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgttgattttaacagatGctggaggacccggtttatct	8	17	10	6	1	1	2	0	1	1	1	1	4	1	4	1	3	2	3	1	3	2	7			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:179447301G>T	ENST00000591111.1	-	264	61183	c.60959C>A	c.(60958-60960)gCa>gAa	p.A20320E	TTN_ENST00000342992.6_Missense_Mutation_p.A19393E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A13021E|TTN_ENST00000460472.2_Missense_Mutation_p.A12896E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A13088E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A21961E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20320	Fibronectin type-III 47. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAACAGATGCTGGAGGACC	0.438																																																	0													72	67	69					2																	179447301		1857	4099	5956	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.60959C>A	2.37:g.179447301G>T	ENSP00000465570:p.Ala20320Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A19393E	ENST00000591111.1	37	c.58178		2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334832	0.24253	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.76	4.87	0.63330	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49115	0.1538	N	0.13003	0.285	0.44880	D	0.997893	P;P;P;P	0.50819	0.939;0.939;0.939;0.892	P;P;P;P	0.51324	0.666;0.666;0.666;0.575	T	0.58216	-0.7675	9	0.87932	D	0	.	17.0266	0.86448	0.0:0.127:0.873:0.0	.	12896;13021;13088;20320	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	19393;12896;13088;13021;12894	ENSP00000343764:A19393E;ENSP00000434586:A12896E;ENSP00000340554:A13088E;ENSP00000352154:A13021E	ENSP00000340554:A13088E	A	-	2	0	TTN	179155547	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	6.663000	0.74431	1.405000	0.46838	0.655000	0.94253	GCA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	34	0	G	NM_133378		179447301	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	179447301	G	T	179447301	3	4	92	1	0	0	0	0	1	0	0	0	16784	1319	46	3	42293	3	TTN	2	179447301	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	6078371	179447301	63752072	45	26620											
VIL1	7429	genome.wustl.edu	37	chr2	219303392	219303392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgcagaacaccaaatcCtatgaggacctgaaggcgga	14	7	11	9	1	0	3	0	2	0	1	1	5	1	5	3	3	2	1	3	3	5	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:219303392C>T	ENST00000248444.5	+	18	2260	c.2172C>T	c.(2170-2172)tcC>tcT	p.S724S	VIL1_ENST00000392114.2_Silent_p.S413S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	724	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACCAAATCCTATGAGGACC	0.537																																																	0													58	56	56					2																	219303392		2203	4300	6503	SO:0001819	synonymous_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2172C>T	2.37:g.219303392C>T			B2R9A7|Q53S11|Q96AC8	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S724	ENST00000248444.5	37	c.2172	CCDS2417.1	2																																																																																			VIL1	-	NULL	ENSG00000127831		0.537	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	-	0	95	0	C	NM_007127		219303392	1	tier1	-	no_errors	ENST00000248444	ensembl	human	known	74_37	silent	32.53	56	27	SNP	0.998	T	T	219303392	C	T	219303392	2	4	92	1	0	0	0	0	0	0	0	1	17213	668	24	3		3	VIL1	2	219303392	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	39856091	219303392	23895981	46	26621											
PER2	8864	genome.wustl.edu	37	chr2	239157804	239157804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctgggctggagtttctGtaggagcttcagcttctctc	6	13	12	10	0	3	0	1	0	2	0	5	3	3	2	1	3	3	5	1	3	2	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:239157804G>T	ENST00000254657.3	-	22	3796	c.3517C>A	c.(3517-3519)Cag>Aag	p.Q1173K	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1173	CRY binding domain. {ECO:0000250|UniProtKB:Q9Z301}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGAGTTTCTGTAGGAGCTTC	0.527																																																	0													128	138	135					2																	239157804		2203	4300	6503	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"period (Drosophila) homolog 2", "period homolog 2 (Drosophila)"			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3517C>A	2.37:g.239157804G>T	ENSP00000254657:p.Gln1173Lys		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.Q1173K	ENST00000254657.3	37	c.3517	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679232	0.47886	.	.	ENSG00000132326	ENST00000254657	T	0.15372	2.43	5.32	5.32	0.75619	Period circadian-like, C-terminal (1);	0.169455	0.53938	D	0.000054	T	0.32346	0.0826	M	0.71581	2.175	0.80722	D	1	P;P	0.49559	0.925;0.925	P;P	0.49922	0.626;0.626	T	0.04811	-1.0925	10	0.72032	D	0.01	-11.9702	16.8724	0.86043	0.0:0.0:1.0:0.0	.	1173;1173	B4DH14;O15055	.;PER2_HUMAN	K	1173	ENSP00000254657:Q1173K	ENSP00000254657:Q1173K	Q	-	1	0	PER2	238822543	1.000000	0.71417	0.614000	0.29051	0.105000	0.19272	7.285000	0.78660	2.664000	0.90586	0.655000	0.94253	CAG	PER2	-	pfam_Period_circadian-like_C	ENSG00000132326		0.527	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1		0	58	0	G	NM_022817		239157804	-1			no_errors	ENST00000254657	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	239157804	G	T	239157804	3	4	92	1	0	0	0	0	1	0	0	0	11769	1386	48	3	258	3	PER2	2	239157804	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	19854412	239157804	4041569	47	26622											
GPC1	2817	genome.wustl.edu	37	chr2	241405643	241405643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagctgcccccagccccCgaccttcctcctgcccctcc	3	7	6	25	1	0	0	0	0	0	0	3	1	3	0	11	0	5	1	11	0	0	1	rs372909320		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:241405643C>T	ENST00000264039.2	+	9	1861	c.1613C>T	c.(1612-1614)cCg>cTg	p.P538L	GPC1_ENST00000466624.1_3'UTR	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	538					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|myelin assembly (GO:0032288)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|phototransduction, visible light (GO:0007603)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|retinoid metabolic process (GO:0001523)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|laminin binding (GO:0043236)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCCCAGCCCCCGACCTTCCTC	0.677													c|||	1	0.000199681	0	0	5008	,	,		13531	0		0	False		,,,				2504	0.001																0									LEU/PRO	0,4406		0,0,2203	54	68	63		1613	-5.7	0	2		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPC1	NM_002081.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	538/559	241405643	1,13005	2203	4300	6503	SO:0001583	missense	0			AK095397	CCDS2534.1	2q35-q37	2008-02-05			ENSG00000063660	ENSG00000063660		"Proteoglycans / Cell Surface : Glypicans"	4449	protein-coding gene	gene with protein product	"glypican proteoglycan 1"	600395				7774946	Standard	NM_002081		Approved	glypican	uc002vyw.4	P35052	OTTHUMG00000133349	ENST00000264039.2:c.1613C>T	2.37:g.241405643C>T	ENSP00000264039:p.Pro538Leu		B3KTD1|Q53QM4	Missense_Mutation	SNP	pfam_Glypican	p.P538L	ENST00000264039.2	37	c.1613	CCDS2534.1	2	.	.	.	.	.	.	.	.	.	.	c	0.068	-1.209089	0.01568	0.0	1.16E-4	ENSG00000063660	ENST00000264039	T	0.44482	0.92	2.84	-5.69	0.02428	.	0.390690	0.08080	U	1.000000	T	0.18257	0.0438	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29822	-0.9999	10	0.10111	T	0.7	-17.0178	1.3635	0.02197	0.5:0.157:0.1968:0.1462	.	538	P35052	GPC1_HUMAN	L	538	ENSP00000264039:P538L	ENSP00000264039:P538L	P	+	2	0	GPC1	241054316	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.162000	0.16501	-1.384000	0.02103	-1.200000	0.01667	CCG	GPC1	-	pfam_Glypican	ENSG00000063660		0.677	GPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC1	HGNC	protein_coding	OTTHUMT00000257179.3	-	0	152	0	C	NM_002081		241405643	1	tier1	-	no_errors	ENST00000264039	ensembl	human	known	74_37	missense	17.69	107	23	SNP	0.000	T	T	241405643	C	T	241405643	3	4	92	1	0	0	0	0	1	0	0	0	6623	652	23	1	1647	1	GPC1	2	241405643	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2247839	241405643	1793730	48	26623											
C2orf85	285093	genome.wustl.edu	37	chr2	242815165	242815165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcataaagcgcaagggCggtggccacgttgcctacgg	9	7	15	10	4	1	0	1	0	0	0	1	1	1	0	2	4	3	2	2	4	4	3	rs369380323	byFrequency	TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr2:242815165C>T	ENST00000343216.3	+	2	1486	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_173821.2	NP_776182.2																					AGCGCAAGGGCGGTGGCCACG	0.622																																																	0													68	80	76					2																	242815165		2084	4198	6282	SO:0001819	synonymous_variant	0																														ENST00000343216.3:c.1458C>T	2.37:g.242815165C>T				Silent	SNP	NULL	p.G486	ENST00000343216.3	37	c.1458	CCDS42843.1	2																																																																																			CXXC11	-	NULL	ENSG00000188011		0.622	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXXC11	HGNC	protein_coding	OTTHUMT00000322310.1	-	0	99	0	C			242815165	1	tier1	-	no_errors	ENST00000343216	ensembl	human	known	74_37	silent	20.56	85	22	SNP	0.001	T	T	242815165	C	T	242815165	2	4	92	1	0	0	0	0	0	0	0	1	2207	755	27	1		1	C2orf85	2	242815165	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1409522	242815165	384208	49	26624											
TATDN2	9797	genome.wustl.edu	37	chr3	10290963	10290964	+	Frame_Shift_Ins	INS	-	-	GG																															ccgcaagcgcagctgcctccINSgggagccctgtgatgtggcc																								rs369729618		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:10290963_10290964insGG	ENST00000287652.4	+	2	1130_1131	c.79_80insGG	c.(79-81)cggfs	p.R27fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.R27fs|RP11-438J1.1_ENST00000450534.1_5'Flank	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	27					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CAGCTGCCTCCGGGAGCCCTGT	0.683																																																	0																																										SO:0001589	frameshift_variant	0			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.80_81dupGG	3.37:g.10290964_10290965dupGG	ENSP00000287652:p.Arg27fs		Q3MIL9|Q5BKU0	Frame_Shift_Ins	INS	pfam_TatD_family	p.E28fs	ENST00000287652.4	37	c.79_80	CCDS33698.1	3																																																																																			TATDN2	-	NULL	ENSG00000157014		0.683	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1		0	114	0	0	XM_376203		10290964	1			no_errors	ENST00000287652	ensembl	human	known	74_37	frame_shift_ins	6.52	129	9	INS	1.000:1.000	GG	GG	10290964	-	GG	10290963	7	5	92	1	0	1	1	0	0	0	0	0	15639	643	23	0	81	0	TATDN2	3	10290963	Frame_Shift_Ins	INS	-	TCGA-L5-A8NT-01A-11D-A37C-09		10290963	187731467	50	26625											
FBLN2	2199	genome.wustl.edu	37	chr3	13671357	13671357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctcgccaggccgcctgtgCcagcacacgtgtgagaacac	8	5	12	16	3	0	1	0	1	0	1	1	2	0	1	5	1	3	1	5	1	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:13671357C>T	ENST00000295760.7	+	13	2808	c.2739C>T	c.(2737-2739)tgC>tgT	p.C913C	FBLN2_ENST00000535798.1_Silent_p.C939C|FBLN2_ENST00000404922.3_Silent_p.C960C|FBLN2_ENST00000492059.1_Silent_p.C960C	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	913	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCCGCCTGTGCCAGCACACGT	0.662																																																	0													20	24	22					3																	13671357		2131	4241	6372	SO:0001819	synonymous_variant	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"Fibulins"	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2739C>T	3.37:g.13671357C>T			B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.C960	ENST00000295760.7	37	c.2880	CCDS46762.1	3																																																																																			FBLN2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000163520		0.662	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	-	0	82	0	C	NM_001004019		13671357	1	tier1	-	no_errors	ENST00000404922	ensembl	human	known	74_37	silent	6.17	75	5	SNP	1.000	T	T	13671357	C	T	13671357	2	4	92	1	0	0	0	0	0	0	0	1	5721	747	26	3		3	FBLN2	3	13671357	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	3380394	13671357	184351073	51	26626											
NR1D2	9975	genome.wustl.edu	37	chr3	24009343	24009343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catcattatttgatgcaaagGaacgtactgtcaccttttta	12	15	6	8	1	2	1	2	1	0	0	2	2	2	2	1	1	3	2	1	1	5	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:24009343G>C	ENST00000312521.4	+	7	1691	c.1372G>C	c.(1372-1374)Gaa>Caa	p.E458Q	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	458	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TGATGCAAAGGAACGTACTGT	0.333																																																	0													105	104	104					3																	24009343		2203	4300	6503	SO:0001583	missense	0			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"Nuclear hormone receptors"	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1372G>C	3.37:g.24009343G>C	ENSP00000310006:p.Glu458Gln		B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E458Q	ENST00000312521.4	37	c.1372	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154308	0.78114	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.96619	-4.07	5.88	4.99	0.66335	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.297642	0.40640	N	0.001058	D	0.95720	0.8608	N	0.25485	0.75	0.54753	D	0.999988	P	0.51653	0.947	P	0.57468	0.821	D	0.95753	0.8793	10	0.46703	T	0.11	.	16.9197	0.86161	0.0:0.1282:0.8718:0.0	.	458	Q14995	NR1D2_HUMAN	Q	458	ENSP00000310006:E458Q	ENSP00000310006:E458Q	E	+	1	0	NR1D2	23984347	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.894000	0.87336	1.444000	0.47605	0.655000	0.94253	GAA	NR1D2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000174738		0.333	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	-	0	52	0	G			24009343	1	tier1	-	no_errors	ENST00000312521	ensembl	human	known	74_37	missense	33.33	40	20	SNP	1.000	C	C	24009343	G	C	24009343	3	2	92	1	0	0	0	0	1	0	0	0	10655	1175	41	5	1398	5	NR1D2	3	24009343	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	10337986	24009343	174013087	52	26627											
DCLK3	85443	genome.wustl.edu	37	chr3	36779753	36779753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcatctgataatttcacccGaggtcttttcaatctccacc	9	13	5	14	2	5	1	2	1	3	0	6	2	5	1	3	1	0	1	3	1	2	4	rs201773927	byFrequency	TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:36779753G>A	ENST00000416516.2	-	2	888	c.398C>T	c.(397-399)tCg>tTg	p.S133L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	133						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AATTTCACCCGAGGTCTTTTC	0.567																																																	0								G	LEU/SER	1,3755		0,1,1877	143	143	143		398	3.8	0.9	3		143	10,8220		0,10,4105	yes	missense	DCLK3	NM_033403.1	145	0,11,5982	AA,AG,GG		0.1215,0.0266,0.0918	probably-damaging	133/649	36779753	11,11975	1878	4115	5993	SO:0001583	missense	0			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"doublecortin and CaM kinase-like 3"	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.398C>T	3.37:g.36779753G>A	ENSP00000394484:p.Ser133Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S133L	ENST00000416516.2	37	c.398	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856277	0.32791	2.66E-4	0.001215	ENSG00000163673	ENST00000416516	T	0.69306	-0.39	4.7	3.83	0.44106	.	0.317189	0.17680	N	0.165651	T	0.51500	0.1678	L	0.34521	1.04	0.09310	N	1	B	0.28470	0.213	B	0.15052	0.012	T	0.46091	-0.9216	10	0.51188	T	0.08	.	9.5159	0.39104	0.164:0.0:0.836:0.0	.	133	Q9C098	DCLK3_HUMAN	L	133	ENSP00000394484:S133L	ENSP00000394484:S133L	S	-	2	0	DCLK3	36754757	0.941000	0.31946	0.912000	0.35992	0.790000	0.44656	2.975000	0.49281	1.134000	0.42165	-0.122000	0.15005	TCG	DCLK3	-	NULL	ENSG00000163673		0.567	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	-	0	58	0	G	XM_047355		36779753	-1	tier1	rs201773927	no_errors	ENST00000416516	ensembl	human	known	74_37	missense	34.69	32	17	SNP	0.068	A	A	36779753	G	A	36779753	3	1	92	1	0	0	0	0	1	0	0	0	4302	1059	37	1	1564	1	DCLK3	3	36779753	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	12770410	36779753	161242677	53	26628											
BSN	8927	genome.wustl.edu	37	chr3	49690024	49690024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacagcagccccagccGcaggcagcgtctagaagaag	12	3	13	13	2	1	3	0	1	1	2	1	3	1	3	3	1	4	3	3	1	3	1	rs368815355		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:49690024G>T	ENST00000296452.4	+	5	3149	c.3035G>T	c.(3034-3036)cGc>cTc	p.R1012L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1012					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCCCAGCCGCAGGCAGCGT	0.647																																																	0													29	30	30					3																	49690024		2202	4299	6501	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3035G>T	3.37:g.49690024G>T	ENSP00000296452:p.Arg1012Leu		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.R1012L	ENST00000296452.4	37	c.3035	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419607	0.62622	.	.	ENSG00000164061	ENST00000296452	T	0.23348	1.91	5.17	5.17	0.71159	.	0.058475	0.64402	D	0.000002	T	0.50650	0.1628	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50939	-0.8768	10	0.59425	D	0.04	.	18.673	0.91518	0.0:0.0:1.0:0.0	.	1012	Q9UPA5	BSN_HUMAN	L	1012	ENSP00000296452:R1012L	ENSP00000296452:R1012L	R	+	2	0	BSN	49665028	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.843000	0.99491	2.413000	0.81919	0.561000	0.74099	CGC	BSN	-	NULL	ENSG00000164061		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0	43	0	G	NM_003458		49690024	1	tier1	-	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	T	T	49690024	G	T	49690024	3	4	92	1	0	0	0	0	1	0	0	0	1534	1087	38	2	3053	2	BSN	3	49690024	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	12910271	49690024	148332406	54	26629											
STAB1	23166	genome.wustl.edu	37	chr3	52556952	52556952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctactgcttccgtgtGcaaggtgtgtccacccgacc	6	10	11	14	2	0	0	0	0	0	0	2	2	2	0	5	1	4	2	5	1	2	2	rs371622176		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:52556952G>A	ENST00000321725.6	+	62	6982	c.6906G>A	c.(6904-6906)gtG>gtA	p.V2302V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2302					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTTCCGTGTGCAAGGTGTGT	0.602																																																	0													80	84	83					3																	52556952		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.6906G>A	3.37:g.52556952G>A			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.V2302	ENST00000321725.6	37	c.6906	CCDS33768.1	3																																																																																			STAB1	-	superfamily_C-type_lectin_fold,superfamily_FAS1_domain	ENSG00000010327		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0	32	0	G	NM_015136		52556952	1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.018	A	A	52556952	G	A	52556952	2	1	92	1	0	0	0	0	0	0	0	1	15284	1306	46	3		3	STAB1	3	52556952	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2866928	52556952	145465478	55	26630											
LRIG1	26018	genome.wustl.edu	37	chr3	66444597	66444597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccacttcagctggcaGtcacacaggaagctgtcgct	9	7	12	13	1	2	0	2	0	0	0	3	1	2	1	1	3	3	5	1	3	1	1	rs199667413		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:66444597G>A	ENST00000273261.3	-	12	1859	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Silent_p.D469D	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	445	LRRCT.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCAGCTGGCAGTCACACAGGA	0.562																																																	0													34	31	32					3																	66444597		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"Immunoglobulin superfamily / I-set domain containing"	17360	protein-coding gene	gene with protein product	"ortholog of mouse integral membrane glycoprotein LIG-1", "leucine-rich repeat protein LRIG1"	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1335C>T	3.37:g.66444597G>A			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D445	ENST00000273261.3	37	c.1335	CCDS33783.1	3																																																																																			LRIG1	-	smart_Cys-rich_flank_reg_C	ENSG00000144749		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1		0	55	0	G	NM_015541		66444597	-1			no_errors	ENST00000273261	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	A	A	66444597	G	A	66444597	2	1	92	1	0	0	0	0	0	0	0	1	8979	1020	36	3		3	LRIG1	3	66444597	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	13887645	66444597	131577833	56	26631											
TOMM70A	9868	genome.wustl.edu	37	chr3	100119483	100119483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaccatgtccaagtgaGcaccgggaccttcagggtgt	8	10	11	12	1	2	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	1	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:100119483G>C	ENST00000284320.5	-	1	759	c.311C>G	c.(310-312)gCt>gGt	p.A104G	LNP1_ENST00000383693.3_5'Flank|LNP1_ENST00000489752.1_5'Flank	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	104					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GTCCAAGTGAGCACCGGGACC	0.672																																																	0													12	13	13					3																	100119483		2165	4207	6372	SO:0001583	missense	0			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"Tetratricopeptide (TTC) repeat domain containing"	11985	protein-coding gene	gene with protein product		606081	"translocase of outer mitochondrial membrane 70 (yeast) homolog A", "translocase of outer mitochondrial membrane 70 homolog A (yeast)"			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.311C>G	3.37:g.100119483G>C	ENSP00000284320:p.Ala104Gly		D3DN48	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A104G	ENST00000284320.5	37	c.311	CCDS33807.1	3	.	.	.	.	.	.	.	.	.	.	G	11.27	1.589853	0.28357	.	.	ENSG00000154174	ENST00000284320	T	0.10099	2.91	4.61	1.69	0.24217	.	0.696518	0.13960	N	0.350891	T	0.04363	0.0120	N	0.08118	0	0.24960	N	0.991732	B	0.02656	0.0	B	0.01281	0.0	T	0.44590	-0.9318	10	0.18276	T	0.48	0.5344	4.1928	0.10430	0.0903:0.1522:0.589:0.1685	.	104	O94826	TOM70_HUMAN	G	104	ENSP00000284320:A104G	ENSP00000284320:A104G	A	-	2	0	TOMM70A	101602173	0.995000	0.38212	0.429000	0.26710	0.943000	0.58893	1.224000	0.32539	0.231000	0.21079	0.561000	0.74099	GCT	TOMM70A	-	NULL	ENSG00000154174		0.672	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM70A	HGNC	protein_coding	OTTHUMT00000353141.2	-	0	121	0	G			100119483	-1	tier1	-	no_errors	ENST00000284320	ensembl	human	known	74_37	missense	27.03	81	30	SNP	0.855	C	C	100119483	G	C	100119483	3	2	92	1	0	0	0	0	1	0	0	0	16410	971	34	5	1563	5	TOMM70A	3	100119483	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	33674886	100119483	97902947	57	26632											
KLHL24	54800	genome.wustl.edu	37	chr3	183381293	183381293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcgttggaggatgtgagcGagttggaggatttaatcttc	8	14	15	4	2	1	1	0	1	1	0	3	6	1	5	0	4	1	2	0	4	1	5	rs547446710		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:183381293G>A	ENST00000454652.2	+	5	1354	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	KLHL24_ENST00000476808.1_Missense_Mutation_p.R323Q|KLHL24_ENST00000242810.6_Missense_Mutation_p.R323Q	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	323						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GGATGTGAGCGAGTTGGAGGA	0.353													G|||	1	0.000199681	0	0	5008	,	,		15968	0		0	False		,,,				2504	0.001																0													179	161	167					3																	183381293		2203	4300	6503	SO:0001583	missense	0				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"Kelch-like", "BTB/POZ domain containing"	25947	protein-coding gene	gene with protein product		611295	"kelch-like 24 (Drosophila)"				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.968G>A	3.37:g.183381293G>A	ENSP00000395012:p.Arg323Gln		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R323Q	ENST00000454652.2	37	c.968	CCDS3246.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.638007	0.96693	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.69175	-0.38;-0.38;-0.32	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	L	0.43757	1.38	0.80722	D	1	D;P	0.89917	1.0;0.894	D;P	0.79108	0.992;0.487	T	0.69250	-0.5194	10	0.19147	T	0.46	.	19.4149	0.94690	0.0:0.0:1.0:0.0	.	323;323	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	Q	323	ENSP00000242810:R323Q;ENSP00000395012:R323Q;ENSP00000419010:R323Q	ENSP00000242810:R323Q	R	+	2	0	KLHL24	184863987	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.597000	0.82733	2.675000	0.91044	0.462000	0.41574	CGA	KLHL24	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000114796		0.353	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLHL24	HGNC	protein_coding	OTTHUMT00000346586.2	-	0	112	0	G	NM_017644		183381293	1	tier1	-	no_errors	ENST00000242810	ensembl	human	known	74_37	missense	34.97	93	50	SNP	1.000	A	A	183381293	G	A	183381293	3	1	92	1	0	0	0	0	1	0	0	0	8406	1058	37	1	974	1	KLHL24	3	183381293	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	83261810	183381293	14641137	58	26633											
ATP13A5	344905	genome.wustl.edu	37	chr3	193082019	193082019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaggtcagcacggatgcGacaaggcagaaggctttccg	11	5	13	12	3	1	1	1	0	0	1	2	3	2	2	2	4	2	3	2	4	2	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr3:193082019G>A	ENST00000342358.4	-	2	231	c.114C>T	c.(112-114)gtC>gtT	p.V38V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	38						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GCACGGATGCGACAAGGCAGA	0.502																																																	0													167	169	168					3																	193082019		2203	4300	6503	SO:0001819	synonymous_variant	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.114C>T	3.37:g.193082019G>A			Q6UWS4|Q6ZWL0	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.V38	ENST00000342358.4	37	c.114	CCDS33914.1	3																																																																																			ATP13A5	-	pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000187527		0.502	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	-	0	60	0	G	NM_198505		193082019	-1	tier1	-	no_errors	ENST00000342358	ensembl	human	known	74_37	silent	31.25	54	25	SNP	0.000	A	A	193082019	G	A	193082019	2	1	92	1	0	0	0	0	0	0	0	1	1128	1045	37	1		1	ATP13A5	3	193082019	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	9700726	193082019	4940411	59	26634											
RGS12	6002	genome.wustl.edu	37	chr4	3422409	3422409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtgtcgccgagagtcGcagggctctgtgtcctctgc	3	10	15	13	3	2	1	0	0	2	1	5	2	3	1	3	2	1	2	3	2	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:3422409G>A	ENST00000344733.5	+	10	3706	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.S934S|RGS12_ENST00000306648.7_Silent_p.S332S|RGS12_ENST00000382788.3_Silent_p.S934S|RGS12_ENST00000338806.4_Silent_p.S286S|RGS12_ENST00000538395.1_Silent_p.S276S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	934					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCCGAGAGTCGCAGGGCTCTG	0.597																																																	0													79	71	74					4																	3422409		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2802G>A	4.37:g.3422409G>A			B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S934	ENST00000344733.5	37	c.2802	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.597	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0	55	0	G	NM_002926		3422409	1	tier1	-	no_errors	ENST00000344733	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.185	A	A	3422409	G	A	3422409	2	1	92	1	0	0	0	0	0	0	0	1	13340	1074	38	1		1	RGS12	4	3422409	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		3422409	187731867	60	26635											
ABLIM2	84448	genome.wustl.edu	37	chr4	8108335	8108335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgggcgacttctccaGcgggctgggagcagcctggg	4	7	18	12	3	1	0	0	0	1	0	2	2	1	1	2	4	4	3	2	4	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:8108335G>A	ENST00000341937.5	-	2	104	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L	ABLIM2_ENST00000296372.8_Silent_p.L14L|ABLIM2_ENST00000546334.1_Silent_p.L14L|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000428004.2_Silent_p.L14L|ABLIM2_ENST00000361581.5_Silent_p.L14L|ABLIM2_ENST00000505872.1_Silent_p.L14L|ABLIM2_ENST00000361737.5_Silent_p.L14L|ABLIM2_ENST00000545242.1_Silent_p.L14L|ABLIM2_ENST00000447017.2_Silent_p.L14L|ABLIM2_ENST00000407564.3_Silent_p.L14L	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	14					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GACTTCTCCAGCGGGCTGGGA	0.597																																																	0													31	36	34					4																	8108335		2124	4234	6358	SO:0001819	synonymous_variant	0			AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"actin binding LIM protein 2"				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.40C>T	4.37:g.8108335G>A			E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Silent	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.L14	ENST00000341937.5	37	c.40	CCDS47013.1	4																																																																																			ABLIM2	-	NULL	ENSG00000163995		0.597	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABLIM2	HGNC	protein_coding	OTTHUMT00000358862.2		0	52	0	G	NM_001130083		8108335	-1			no_errors	ENST00000447017	ensembl	human	known	74_37	silent	8.00	46	4	SNP	0.842	A	A	8108335	G	A	8108335	2	1	92	1	0	0	0	0	0	0	0	1	95	962	34	3		3	ABLIM2	4	8108335	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	4685926	8108335	183045941	61	26636											
NFXL1	152518	genome.wustl.edu	37	chr4	47900808	47900808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtggacttgcacaacttCtttcagctacttttttgcca	9	16	6	10	0	2	0	1	0	1	0	2	1	2	1	1	1	5	2	1	1	3	8			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:47900808C>T	ENST00000507489.1	-	8	1231	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	NFXL1_ENST00000381538.3_Missense_Mutation_p.R352K|NFXL1_ENST00000329043.3_Missense_Mutation_p.R352K	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	352						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGCACAACTTCTTTCAGCTAC	0.388																																																	0													174	166	169					4																	47900808		2203	4300	6503	SO:0001583	missense	0			AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"ovarian zinc finger protein"						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1055G>A	4.37:g.47900808C>T	ENSP00000422037:p.Arg352Lys		B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING	p.R352K	ENST00000507489.1	37	c.1055	CCDS3478.2	4	.	.	.	.	.	.	.	.	.	.	C	7.697	0.692235	0.15039	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.41400	1.0;1.0;1.0	5.19	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	L	0.50333	1.59	0.48696	D	0.999698	B	0.06786	0.001	B	0.10450	0.005	T	0.13442	-1.0509	10	0.18710	T	0.47	-9.5991	13.8417	0.63444	0.0:0.9251:0.0:0.0749	.	352	Q6ZNB6	NFXL1_HUMAN	K	352	ENSP00000370949:R352K;ENSP00000422037:R352K;ENSP00000333113:R352K	ENSP00000333113:R352K	R	-	2	0	NFXL1	47595565	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.001000	0.76297	1.168000	0.42723	0.655000	0.94253	AGA	NFXL1	-	NULL	ENSG00000170448		0.388	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NFXL1	HGNC	protein_coding	OTTHUMT00000361636.1	-	0	81	0	C	NM_152995		47900808	-1	tier1	-	no_errors	ENST00000381538	ensembl	human	known	74_37	missense	57.63	25	34	SNP	1.000	T	T	47900808	C	T	47900808	3	4	92	1	0	0	0	0	1	0	0	0	10427	913	32	3	1744	3	NFXL1	4	47900808	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	39792473	47900808	143253468	62	26637											
PPEF2	5470	genome.wustl.edu	37	chr4	76785642	76785642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggtctctaggttggatcgGtttcgatacaatgtttccag	8	15	11	7	2	1	0	0	0	1	0	5	2	2	1	1	4	1	3	1	4	3	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:76785642G>A	ENST00000286719.7	-	16	2315	c.1959C>T	c.(1957-1959)aaC>aaT	p.N653N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	653	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGTTGGATCGGTTTCGATACA	0.338																																					NSCLC(105;1359 1603 15961 44567 47947)												0													201	186	191					4																	76785642		2203	4300	6503	SO:0001819	synonymous_variant	0			AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits", "EF-hand domain containing"	9244	protein-coding gene	gene with protein product	"protein phosphatase 7, catalytic subunit, beta isozyme"	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.1959C>T	4.37:g.76785642G>A			O14831	Silent	SNP	pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom	p.N653	ENST00000286719.7	37	c.1959	CCDS34013.1	4																																																																																			PPEF2	-	pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom	ENSG00000156194		0.338	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF2	HGNC	protein_coding	OTTHUMT00000362929.1	-	0	60	0	G	NM_006239		76785642	-1	tier1	-	no_errors	ENST00000286719	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	A	A	76785642	G	A	76785642	2	1	92	1	0	0	0	0	0	0	0	1	12347	1252	44	3		3	PPEF2	4	76785642	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	28884834	76785642	114368634	63	26638											
SHROOM3	57619	genome.wustl.edu	37	chr4	77677900	77677900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaagacatcagaacagagGctttggccaaggaaattgtc	15	7	11	8	0	1	4	1	0	0	4	2	5	1	5	1	3	1	1	1	3	4	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:77677900G>T	ENST00000296043.6	+	8	5961	c.5008G>T	c.(5008-5010)Gct>Tct	p.A1670S	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1670	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGAACAGAGGCTTTGGCCAA	0.458																																																	0													67	71	70					4																	77677900		2203	4300	6503	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5008G>T	4.37:g.77677900G>T	ENSP00000296043:p.Ala1670Ser		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A1670S	ENST00000296043.6	37	c.5008	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457312	0.43634	.	.	ENSG00000138771	ENST00000296043;ENST00000264907	T	0.21361	2.01	5.27	0.509	0.16977	Apx/shroom, ASD2 (1);	1.035690	0.07642	N	0.930512	T	0.20780	0.0500	L	0.40543	1.245	0.32978	D	0.523225	P	0.43578	0.811	B	0.42625	0.393	T	0.38672	-0.9650	10	0.42905	T	0.14	-0.2662	10.6385	0.45579	0.3348:0.0:0.6651:0.0	.	1670	Q8TF72	SHRM3_HUMAN	S	1670;147	ENSP00000296043:A1670S	ENSP00000264907:A147S	A	+	1	0	SHROOM3	77896924	1.000000	0.71417	0.857000	0.33713	0.995000	0.86356	2.648000	0.46647	0.055000	0.16094	0.585000	0.79938	GCT	SHROOM3	-	NULL	ENSG00000138771		0.458	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2		0	65	0	G	NM_020859		77677900	1			no_errors	ENST00000296043	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.993	T	T	77677900	G	T	77677900	3	4	92	1	0	0	0	0	1	0	0	0	14340	1203	42	3	5038	3	SHROOM3	4	77677900	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	892258	77677900	113476376	64	26639											
PTPN13	5783	genome.wustl.edu	37	chr4	87691018	87691018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accggagcaaattaatgccaGcatagtaagggttaaaaagc	17	7	10	7	1	0	0	0	0	0	0	0	1	0	1	2	2	4	4	2	2	7	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:87691018G>A	ENST00000411767.2	+	29	4649	c.4586G>A	c.(4585-4587)aGc>aAc	p.S1529N	PTPN13_ENST00000511467.1_Missense_Mutation_p.S1534N|PTPN13_ENST00000316707.6_Missense_Mutation_p.S1338N|PTPN13_ENST00000427191.2_Missense_Mutation_p.S1510N|PTPN13_ENST00000436978.1_Missense_Mutation_p.S1534N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1529	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATTAATGCCAGCATAGTAAGG	0.368																																																	0													97	94	95					4																	87691018		1835	4087	5922	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4586G>A	4.37:g.87691018G>A	ENSP00000407249:p.Ser1529Asn		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.S1534N	ENST00000411767.2	37	c.4601	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396091	0.62177	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.104737	0.42420	D	0.000714	T	0.32941	0.0846	N	0.12443	0.215	0.51012	D	0.999907	D;P;D;P	0.67145	0.992;0.653;0.996;0.837	P;P;D;P	0.68353	0.856;0.647;0.957;0.772	T	0.17868	-1.0355	10	0.48119	T	0.1	.	16.4226	0.83772	0.0:0.14:0.86:0.0	.	1338;1510;1529;1534	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	1510;1534;1338;1529;1534;1478	ENSP00000408368:S1510N;ENSP00000394794:S1534N;ENSP00000322675:S1338N;ENSP00000407249:S1529N;ENSP00000426626:S1534N	ENSP00000322675:S1338N	S	+	2	0	PTPN13	87910042	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.958000	0.70330	2.715000	0.92844	0.655000	0.94253	AGC	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000163629		0.368	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	119	0	G			87691018	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	87691018	G	A	87691018	3	1	92	1	0	0	0	0	1	0	0	0	12825	971	34	3	4711	3	PTPN13	4	87691018	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	10013118	87691018	103463258	65	26640											
DAPP1	27071	genome.wustl.edu	37	chr4	100774455	100774455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtccgggttcacacaGcaatgcagacaggaagaaca	15	6	10	10	1	2	2	1	0	1	2	3	3	3	3	1	2	3	3	1	2	4	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:100774455G>T	ENST00000512369.1	+	4	507	c.439G>T	c.(439-441)Gca>Tca	p.A147S	DAPP1_ENST00000296414.7_Missense_Mutation_p.A147S	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	147					protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		GGTTCACACAGCAATGCAGAC	0.443																																																	0													86	83	84					4																	100774455		1940	4138	6078	SO:0001583	missense	0			AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.439G>T	4.37:g.100774455G>T	ENSP00000423602:p.Ala147Ser		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2	p.A147S	ENST00000512369.1	37	c.439	CCDS47112.1	4	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871368	0.51695	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.71698	-0.59;-0.53	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	N	0.11560	0.145	0.58432	D	0.999999	B;B	0.33637	0.42;0.349	B;B	0.25614	0.061;0.062	T	0.52208	-0.8606	10	0.09084	T	0.74	-15.8749	17.7024	0.88299	0.0:0.0:1.0:0.0	.	147;147	Q9UN19-2;Q9UN19	.;DAPP1_HUMAN	S	147	ENSP00000296414:A147S;ENSP00000423602:A147S	ENSP00000296414:A147S	A	+	1	0	DAPP1	100993478	1.000000	0.71417	0.763000	0.31416	0.524000	0.34500	8.613000	0.90913	2.466000	0.83321	0.563000	0.77884	GCA	DAPP1	-	NULL	ENSG00000070190		0.443	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DAPP1	HGNC	protein_coding	OTTHUMT00000363215.1		0	69	0	G			100774455	1			no_errors	ENST00000512369	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.999	T	T	100774455	G	T	100774455	3	4	92	1	0	0	0	0	1	0	0	0	4248	971	34	3	453	3	DAPP1	4	100774455	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	13083437	100774455	90379821	66	26641											
NPNT	255743	genome.wustl.edu	37	chr4	106816881	106816881	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgccgagttcgacgggagGtgagctgggccccggggcgc	4	4	20	13	6	0	1	0	1	0	0	1	4	0	2	4	5	1	2	4	5	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:106816881G>T	ENST00000379987.2	+	1	287		c.e1+1		NPNT_ENST00000506666.1_Splice_Site|NPNT_ENST00000453617.2_Splice_Site|NPNT_ENST00000427316.2_Splice_Site|NPNT_ENST00000514622.1_Splice_Site|NPNT_ENST00000305572.8_Splice_Site	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin						branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TCGACGGGAGGTGAGCTGGGC	0.662																																																	0													9	11	10					4																	106816881		2109	4144	6253	SO:0001630	splice_region_variant	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.71+1G>T	4.37:g.106816881G>T			A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Splice_Site	SNP	-	e1+1	ENST00000379987.2	37	c.71+1	CCDS34046.1	4	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182712	0.38511	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1495	0.42784	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPNT	107036330	1.000000	0.71417	0.994000	0.49952	0.661000	0.39034	4.625000	0.61262	1.708000	0.51301	0.491000	0.48974	.	NPNT	-	-	ENSG00000168743		0.662	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	-	0	168	0	G	NM_198278	Intron	106816881	1	tier1	-	no_errors	ENST00000379987	ensembl	human	known	74_37	splice_site	53.19	44	50	SNP	0.998	T	T	106816881	G	T	106816881	5	4	92	1	0	0	0	0	0	0	1	0	10629	1275	44	3	74	3	NPNT	4	106816881	Splice_Site	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	6042426	106816881	84337395	67	26642											
ARSJ	79642	genome.wustl.edu	37	chr4	114899598	114899598	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggaacacttactttccAgtaataaactgactcctgga	14	11	7	9	0	0	1	0	1	0	0	2	3	2	3	2	2	3	2	2	2	6	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:114899598A>G	ENST00000315366.7	-	1	1259	c.393T>C	c.(391-393)acT>acC	p.T131T	ARSJ_ENST00000541197.1_Silent_p.T131T|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	131					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CTTACTTTCCAGTAATAAACT	0.383																																																	0													81	77	78					4																	114899598		1870	4110	5980	SO:0001819	synonymous_variant	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.393T>C	4.37:g.114899598A>G			A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.T131	ENST00000315366.7	37	c.393	CCDS43264.1	4																																																																																			ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000180801		0.383	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	-	0	93	0	A	NM_024590		114899598	-1	tier1	-	no_errors	ENST00000315366	ensembl	human	known	74_37	silent	7.94	58	5	SNP	1.000	G	G	114899598	A	G	114899598	2	3	92	1	0	0	0	0	0	0	0	1	996	175	7	4		4	ARSJ	4	114899598	Silent	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	8082717	114899598	76254678	68	26643											
ZFP42	132625	genome.wustl.edu	37	chr4	188924760	188924760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatttgcgtacgcacgtgCgcatccacacgggggagaaa	11	8	12	10	5	0	1	0	0	0	1	1	2	1	1	1	2	3	3	1	2	3	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr4:188924760C>T	ENST00000326866.4	+	4	1207	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ZFP42_ENST00000509524.1_Missense_Mutation_p.R267C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	267					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TACGCACGTGCGCATCCACAC	0.502																																																	0													76	74	74					4																	188924760		2203	4300	6503	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.799C>T	4.37:g.188924760C>T	ENSP00000317686:p.Arg267Cys		D3DP65|Q8WXE2	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R267C	ENST00000326866.4	37	c.799	CCDS3849.1	4	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127432	0.37533	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.25749	1.78;1.78	4.39	0.78	0.18556	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.146151	0.47852	N	0.000220	T	0.23806	0.0576	M	0.84156	2.68	0.40041	D	0.975658	P	0.41366	0.747	B	0.28232	0.087	T	0.14420	-1.0473	10	0.87932	D	0	.	8.2385	0.31640	0.0:0.6476:0.0:0.3524	.	267	Q96MM3	ZFP42_HUMAN	C	267	ENSP00000317686:R267C;ENSP00000424662:R267C	ENSP00000317686:R267C	R	+	1	0	ZFP42	189161754	0.978000	0.34361	0.107000	0.21349	0.057000	0.15508	1.857000	0.39399	0.096000	0.17463	-0.140000	0.14226	CGC	ZFP42	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179059		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0	51	0	C	NM_174900		188924760	1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.890	T	T	188924760	C	T	188924760	3	4	92	1	0	0	0	0	1	0	0	0	17698	768	27	1	801	1	ZFP42	4	188924760	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	74025162	188924760	2229516	69	26644											
ADAMTS16	170690	genome.wustl.edu	37	chr5	5242188	5242188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcagggaaggaaccCgggtgttgcctgggaatact	8	10	15	8	1	1	0	1	0	0	0	1	3	1	3	2	4	3	3	2	4	4	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:5242188C>A	ENST00000274181.7	+	17	2684	c.2546C>A	c.(2545-2547)cCg>cAg	p.P849Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	849	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P849Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAAGGAACCCGGGTGTTGCC	0.512																																																	2	Substitution - Missense(2)	lung(2)											57	61	60					5																	5242188		1904	4120	6024	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2546C>A	5.37:g.5242188C>A	ENSP00000274181:p.Pro849Gln		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P849Q	ENST00000274181.7	37	c.2546	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743240	0.49151	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54479	0.57	5.77	4.9	0.64082	ADAM-TS Spacer 1 (1);	0.062950	0.64402	D	0.000005	T	0.71013	0.3290	M	0.79805	2.47	0.58432	D	0.999998	D;D	0.89917	1.0;0.966	D;P	0.78314	0.991;0.733	T	0.73173	-0.4066	10	0.51188	T	0.08	.	10.616	0.45451	0.0:0.8445:0.0:0.1555	.	849;849	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	Q	849	ENSP00000274181:P849Q	ENSP00000274181:P849Q	P	+	2	0	ADAMTS16	5295188	0.998000	0.40836	0.885000	0.34714	0.255000	0.26057	3.866000	0.56040	1.437000	0.47472	0.650000	0.86243	CCG	ADAMTS16	-	pfam_ADAM_spacer1	ENSG00000145536		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0	82	0	C	NM_139056		5242188	1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	missense	71.57	29	73	SNP	0.993	A	A	5242188	C	A	5242188	3	1	92	1	0	0	0	0	1	0	0	0	261	652	23	2	2612	2	ADAMTS16	5	5242188	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		5242188	175673072	70	26645											
SPEF2	79925	genome.wustl.edu	37	chr5	35727842	35727842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacctgctgactctacaGatacatcacctgttgcaata	13	11	5	12	0	3	2	2	1	1	1	3	2	3	2	2	0	4	3	2	0	5	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:35727842G>T	ENST00000356031.3	+	21	3134	c.2980G>T	c.(2980-2982)Gat>Tat	p.D994Y	SPEF2_ENST00000440995.2_Missense_Mutation_p.D989Y|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	994					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGACTCTACAGATACATCACC	0.403																																																	0													123	122	122					5																	35727842		1945	4139	6084	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2980G>T	5.37:g.35727842G>T	ENSP00000348314:p.Asp994Tyr		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.D994Y	ENST00000356031.3	37	c.2980	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	6.649	0.488262	0.12641	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.06849	3.26;3.25	4.88	3.08	0.35506	.	1.855360	0.02219	N	0.063833	T	0.11239	0.0274	L	0.36672	1.1	0.21697	N	0.99959	P;B	0.41848	0.763;0.38	B;B	0.41236	0.351;0.123	T	0.33624	-0.9861	10	0.59425	D	0.04	.	9.0294	0.36249	0.1772:0.0:0.8228:0.0	.	989;994	Q9C093-2;Q9C093	.;SPEF2_HUMAN	Y	994;989	ENSP00000348314:D994Y;ENSP00000412125:D989Y	ENSP00000348314:D994Y	D	+	1	0	SPEF2	35763599	0.379000	0.25123	0.059000	0.19551	0.009000	0.06853	1.348000	0.33987	0.733000	0.32492	0.650000	0.86243	GAT	SPEF2	-	NULL	ENSG00000152582		0.403	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1		0	45	0	G	NM_144722		35727842	1			no_errors	ENST00000356031	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.148	T	T	35727842	G	T	35727842	3	4	92	1	0	0	0	0	1	0	0	0	15082	942	33	3	3083	3	SPEF2	5	35727842	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	30485654	35727842	145187418	71	26646											
EGFLAM	133584	genome.wustl.edu	37	chr5	38258922	38258922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctcggacccggcgcGgtgtcgctccgagcggccat	4	6	14	17	7	0	0	0	0	0	0	4	2	2	1	5	4	2	1	5	4	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:38258922G>A	ENST00000354891.3	+	1	412	c.66G>A	c.(64-66)gcG>gcA	p.A22A	EGFLAM_ENST00000322350.5_Silent_p.A22A	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	22					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACCCGGCGCGGTGTCGCTCC	0.672																																					Colon(62;485 1295 3347 17454)												0													20	20	20					5																	38258922		2202	4296	6498	SO:0001819	synonymous_variant	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.66G>A	5.37:g.38258922G>A			A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.A22	ENST00000354891.3	37	c.66	CCDS56363.1	5																																																																																			EGFLAM	-	NULL	ENSG00000164318		0.672	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0	72	0	G	NM_152403		38258922	1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	silent	12.70	55	8	SNP	0.000	A	A	38258922	G	A	38258922	2	1	92	1	0	0	0	0	0	0	0	1	4980	1103	39	1		1	EGFLAM	5	38258922	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2531080	38258922	142656338	72	26647											
OSMR	9180	genome.wustl.edu	37	chr5	38933248	38933248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtatccccaaaagcccCaagtatgctgggactaatga	13	8	8	12	0	0	1	0	1	0	0	2	2	2	2	5	1	2	3	5	1	6	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:38933248C>T	ENST00000274276.3	+	18	3044	c.2642C>T	c.(2641-2643)cCa>cTa	p.P881L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	881					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.P881Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CCAAAAGCCCCAAGTATGCTG	0.483																																																	1	Substitution - Missense(1)	lung(1)											122	132	129					5																	38933248		2203	4300	6503	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"Fibronectin type III domain containing"	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2642C>T	5.37:g.38933248C>T	ENSP00000274276:p.Pro881Leu		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P881L	ENST00000274276.3	37	c.2642	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	C	8.294	0.818333	0.16607	.	.	ENSG00000145623	ENST00000274276	T	0.48522	0.81	5.53	2.62	0.31277	.	2.319360	0.01356	N	0.012065	T	0.42562	0.1208	L	0.56769	1.78	0.09310	N	1	P	0.39282	0.666	B	0.33339	0.162	T	0.43940	-0.9360	10	0.62326	D	0.03	.	3.4736	0.07577	0.1776:0.5604:0.1711:0.0909	.	881	Q99650	OSMR_HUMAN	L	881	ENSP00000274276:P881L	ENSP00000274276:P881L	P	+	2	0	OSMR	38969005	0.001000	0.12720	0.002000	0.10522	0.019000	0.09904	0.780000	0.26760	1.456000	0.47831	0.655000	0.94253	CCA	OSMR	-	NULL	ENSG00000145623		0.483	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	-	0	64	0	C	NM_003999		38933248	1	tier1	-	no_errors	ENST00000274276	ensembl	human	known	74_37	missense	70.83	21	51	SNP	0.000	T	T	38933248	C	T	38933248	3	4	92	1	0	0	0	0	1	0	0	0	11331	594	21	3	2746	3	OSMR	5	38933248	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	674326	38933248	141982012	73	26648											
ACTBL2	345651	genome.wustl.edu	37	chr5	56778214	56778214	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttcaggggtgcctcGgtgaggaggatgggatgctc	5	10	20	6	1	1	1	1	1	0	0	3	4	1	4	1	8	2	2	1	8	0	2	rs371146209		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:56778214G>T	ENST00000423391.1	-	1	422	c.321C>A	c.(319-321)acC>acA	p.T107T	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	107						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGGGTGCCTCGGTGAGGAGGA	0.527																																																	0													104	89	94					5																	56778214		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.321C>A	5.37:g.56778214G>T			B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.T107	ENST00000423391.1	37	c.321	CCDS34163.1	5																																																																																			ACTBL2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169067		0.527	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1		0	39	0	G	NM_001017992		56778214	-1			no_errors	ENST00000423391	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.097	T	T	56778214	G	T	56778214	2	4	92	1	0	0	0	0	0	0	0	1	194	1103	39	2		2	ACTBL2	5	56778214	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	17844966	56778214	124137046	74	26649											
SEMA6A	57556	genome.wustl.edu	37	chr5	115782665	115782665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcttatagtcaacccCgtaggaagaggagtggtgca	10	9	12	10	1	2	1	1	0	1	1	3	3	3	3	3	3	2	3	3	3	5	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:115782665C>T	ENST00000343348.6	-	19	3524	c.2737G>A	c.(2737-2739)Ggg>Agg	p.G913R	SEMA6A_ENST00000503865.1_Missense_Mutation_p.G292R|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000282394.6_Missense_Mutation_p.G390R|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.G340R|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G913R|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G930R	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	913					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TAGTCAACCCCGTAGGAAGAG	0.572																																																	0													57	64	61					5																	115782665		1974	4165	6139	SO:0001583	missense	0			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"Semaphorins"	10738	protein-coding gene	gene with protein product	"sema VIa"	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2737G>A	5.37:g.115782665C>T	ENSP00000345512:p.Gly913Arg		Q9P2H9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.G930R	ENST00000343348.6	37	c.2788	CCDS47256.1	5	.	.	.	.	.	.	.	.	.	.	C	13.79	2.343003	0.41498	.	.	ENSG00000092421	ENST00000343348;ENST00000257414;ENST00000513137;ENST00000282394;ENST00000503865;ENST00000510263	T;T;T;T;T;T	0.49432	2.21;2.2;0.79;2.61;0.78;2.21	5.22	5.22	0.72569	.	0.125811	0.33382	N	0.004973	T	0.32496	0.0831	N	0.22421	0.69	0.41646	D	0.989103	P;P;D;P;D;P	0.59357	0.746;0.848;0.985;0.942;0.963;0.883	B;B;B;B;B;B	0.42916	0.179;0.114;0.372;0.402;0.295;0.244	T	0.19418	-1.0306	10	0.66056	D	0.02	.	7.1755	0.25742	0.0:0.7863:0.0:0.2137	.	292;913;457;930;390;340	E9PDV9;Q9H2E6;Q96SM8;Q9H2E6-2;E7ERF3;B3KU01	.;SEM6A_HUMAN;.;.;.;.	R	913;930;340;390;292;913	ENSP00000345512:G913R;ENSP00000257414:G930R;ENSP00000422997:G340R;ENSP00000282394:G390R;ENSP00000425364:G292R;ENSP00000424388:G913R	ENSP00000257414:G930R	G	-	1	0	SEMA6A	115810564	0.998000	0.40836	0.902000	0.35471	0.992000	0.81027	3.482000	0.53186	2.436000	0.82500	0.563000	0.77884	GGG	SEMA6A	-	NULL	ENSG00000092421		0.572	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6A	HGNC	protein_coding	OTTHUMT00000371270.1	-	0	72	0	C	NM_020796		115782665	-1	tier1	-	no_errors	ENST00000257414	ensembl	human	known	74_37	missense	43.64	31	24	SNP	0.993	T	T	115782665	C	T	115782665	3	4	92	1	0	0	0	0	1	0	0	0	14084	652	23	1	359	1	SEMA6A	5	115782665	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	59004451	115782665	65132595	75	26650											
CTNNA1	1495	genome.wustl.edu	37	chr5	138261083	138261083	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacatcaggaaagcagTgctgatgataagggtgagta	13	7	15	6	1	1	3	1	3	0	0	1	5	1	5	1	3	2	3	1	3	3	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:138261083T>A	ENST00000302763.7	+	13	1976	c.1886T>A	c.(1885-1887)gTg>gAg	p.V629E	CTNNA1_ENST00000355078.5_Missense_Mutation_p.V526E|CTNNA1_ENST00000518825.1_Missense_Mutation_p.V629E|CTNNA1_ENST00000540387.1_Missense_Mutation_p.V259E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	629					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGAAAGCAGTGCTGATGATA	0.483																																																	0													102	93	96					5																	138261083		2203	4300	6503	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1886T>A	5.37:g.138261083T>A	ENSP00000304669:p.Val629Glu		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.V629E	ENST00000302763.7	37	c.1886	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	T	27.2	4.807913	0.90623	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.37915	1.17;1.17;1.17;1.17	6.06	6.06	0.98353	.	0.123947	0.53938	D	0.000044	T	0.60728	0.2291	M	0.78049	2.395	0.80722	D	1	D;P;P	0.61697	0.99;0.894;0.716	D;D;P	0.66979	0.948;0.922;0.887	T	0.64782	-0.6326	10	0.72032	D	0.01	-20.104	14.8391	0.70209	0.0:0.0:0.0:1.0	.	629;506;629	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	E	526;629;629;614;629;259	ENSP00000347190:V526E;ENSP00000304669:V629E;ENSP00000427821:V629E;ENSP00000438476:V259E	ENSP00000304669:V629E	V	+	2	0	CTNNA1	138288982	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.990000	0.88215	2.324000	0.78689	0.533000	0.62120	GTG	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000044115		0.483	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0	68	0	T	NM_001903		138261083	1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A	A	138261083	T	A	138261083	3	1	92	1	0	0	0	0	1	0	0	0	4021	1696	59	5	1932	5	CTNNA1	5	138261083	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	22478418	138261083	42654177	76	26651											
SGCD	6444	genome.wustl.edu	37	chr5	156186335	156186335	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgcgtctgcgccaatggGagattattcctgtctcaggc	7	12	11	11	2	3	1	1	0	3	1	5	2	4	1	2	2	2	0	2	2	2	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:156186335G>T	ENST00000435422.3	+	8	1291	c.804G>T	c.(802-804)ggG>ggT	p.G268G	SGCD_ENST00000337851.4_Silent_p.G269G	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	268					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.G269G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCGCCAATGGGAGATTATTCC	0.502																																																	1	Substitution - coding silent(1)	lung(1)											136	131	133					5																	156186335		1976	4170	6146	SO:0001819	synonymous_variant	0			BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.804G>T	5.37:g.156186335G>T			A8K9S9|Q53XA5|Q99644	Silent	SNP	pfam_Sarcoglycan	p.G269	ENST00000435422.3	37	c.807	CCDS47327.1	5																																																																																			SGCD	-	pfam_Sarcoglycan	ENSG00000170624		0.502	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGCD	HGNC	protein_coding	OTTHUMT00000373469.3		0	52	0	G			156186335	1			no_errors	ENST00000337851	ensembl	human	known	74_37	silent	5.71	33	2	SNP	1.000	T	T	156186335	G	T	156186335	2	4	92	1	0	0	0	0	0	0	0	1	14246	1161	41	3		3	SGCD	5	156186335	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	17925252	156186335	24728925	77	26652											
ATP10B	23120	genome.wustl.edu	37	chr5	160018126	160018126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccaccatagaaatccaGaaagtcgacaggttatagca	16	7	8	10	1	0	2	0	0	0	2	3	3	2	2	3	1	1	3	3	1	5	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr5:160018126G>T	ENST00000327245.5	-	23	4431	c.3585C>A	c.(3583-3585)ttC>ttA	p.F1195L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1195					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAAATCCAGAAAGTCGACA	0.423																																																	0													131	137	135					5																	160018126		1909	4124	6033	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3585C>A	5.37:g.160018126G>T	ENSP00000313600:p.Phe1195Leu		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.F1195L	ENST00000327245.5	37	c.3585	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416178	0.83449	.	.	ENSG00000118322	ENST00000327245	T	0.77489	-1.1	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.88429	0.6434	M	0.89287	3.02	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.89638	0.3860	9	.	.	.	.	10.8925	0.47004	0.0969:0.0:0.9031:0.0	.	1195	O94823	AT10B_HUMAN	L	1195	ENSP00000313600:F1195L	.	F	-	3	2	ATP10B	159950704	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.107000	0.50329	2.408000	0.81797	0.655000	0.94253	TTC	ATP10B	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.423	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0	49	0	G	NM_025153		160018126	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	160018126	G	T	160018126	3	4	92	1	0	0	0	0	1	0	0	0	1118	933	33	3	816	3	ATP10B	5	160018126	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	3831791	160018126	20897134	78	26653											
NUP153	9972	genome.wustl.edu	37	chr6	17629214	17629214	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtggcaggcatttcttcTtttttagcttctgatgtctt	4	21	9	7	0	4	1	0	1	4	0	4	1	4	1	0	3	1	3	0	3	1	8			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:17629214T>G	ENST00000262077.2	-	18	3215	c.3216A>C	c.(3214-3216)aaA>aaC	p.K1072N	NUP153_ENST00000537253.1_Missense_Mutation_p.K1103N	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1072					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCATTTCTTCTTTTTTAGCTT	0.468																																																	0													85	78	80					6																	17629214		2203	4300	6503	SO:0001583	missense	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3216A>C	6.37:g.17629214T>G	ENSP00000262077:p.Lys1072Asn		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.K1103N	ENST00000262077.2	37	c.3309	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	T	17.89	3.500356	0.64298	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08634	3.08;3.07	5.5	-1.12	0.09808	.	0.000000	0.50627	D	0.000106	T	0.12689	0.0308	M	0.69823	2.125	0.42923	D	0.994299	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.948;0.993	T	0.02333	-1.1175	10	0.38643	T	0.18	-6.2674	11.1471	0.48436	0.0:0.5972:0.0:0.4028	.	1103;1052;1072	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	N	1072;1052;1103	ENSP00000262077:K1072N;ENSP00000444029:K1103N	ENSP00000262077:K1072N	K	-	3	2	NUP153	17737193	0.987000	0.35691	0.987000	0.45799	0.994000	0.84299	0.083000	0.14871	-0.144000	0.11314	0.496000	0.49642	AAA	NUP153	-	NULL	ENSG00000124789		0.468	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	73	0	T			17629214	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	missense	39.22	31	20	SNP	0.973	G	G	17629214	T	G	17629214	3	3	92	1	0	0	0	0	1	0	0	0	10794	1606	56	4	1231	4	NUP153	6	17629214	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09		17629214	153485853	79	26654											
BTN3A1	11119	genome.wustl.edu	37	chr6	26412944	26412944	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttcaggtgaggaaatgCttcagatgaggctccacttt	10	14	10	7	0	2	3	2	2	0	1	3	4	3	4	1	3	1	2	1	3	1	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:26412944C>T	ENST00000289361.6	+	10	1386				BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_3'UTR|BTN3A1_ENST00000476549.2_Missense_Mutation_p.L344F	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1						activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						tgaggaaatgcttcagatgag	0.413																																																	0													172	137	148					6																	26412944		692	1591	2283	SO:0001627	intron_variant	0			U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1019-453C>T	6.37:g.26412944C>T			A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L344F	ENST00000289361.6	37	c.1030	CCDS4608.1	6	.	.	.	.	.	.	.	.	.	.	.	11.28	1.591052	0.28357	.	.	ENSG00000026950	ENST00000476549	T	0.04083	3.71	0.737	0.737	0.18314	.	.	.	.	.	T	0.04182	0.0116	L	0.42245	1.32	0.09310	N	0.999999	D	0.54964	0.969	P	0.57620	0.824	T	0.38308	-0.9667	8	0.72032	D	0.01	.	.	.	.	.	344	O00481-2	.	F	344	ENSP00000420010:L344F	ENSP00000420010:L344F	L	+	1	0	BTN3A1	26520923	0.202000	0.23423	0.045000	0.18777	0.048000	0.14542	0.441000	0.21611	0.658000	0.30925	0.514000	0.50259	CTT	BTN3A1	-	NULL	ENSG00000026950		0.413	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN3A1	HGNC	protein_coding	OTTHUMT00000040112.3	-	0	71	0	C			26412944	1	tier1	-	no_errors	ENST00000476549	ensembl	human	known	74_37	missense	47.46	31	28	SNP	0.060	T	T	26412944	C	T	26412944	1	4	92	0	1	0	0	0	0	0	0	0	1566	797	28	3		3	BTN3A1	6	26412944	Intron	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	8783730	26412944	144702123	80	26655											
GABBR1	2550	genome.wustl.edu	37	chr6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-																															tcataagcaaggaagattccCagcagcagcagcagcccctt																								rs368201041		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	0			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.L783in_frame_del	ENST00000377034.4	37	c.2349_2347	CCDS4663.1	6																																																																																			GABBR1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000204681		0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3		0	40	0	CAG			29573438	-1	tier1		no_errors	ENST00000377034	ensembl	human	known	74_37	in_frame_del	15.00	17	3	DEL	0.997:1.000:1.000	-	-	29573438	CAG	-	29573436	7	5	92	1	0	1	0	1	0	0	0	0	6179	581	21	0	552	0	GABBR1	6	29573436	In_Frame_Del	DEL	CAG	TCGA-L5-A8NT-01A-11D-A37C-09	3160492	29573436	141541631	81	26656											
ZBTB12	221527	genome.wustl.edu	37	chr6	31868356	31868357	+	Frame_Shift_Ins	INS	-	-	GT																															ctctgggccagctccccaagINSgtggccacccacggagcctc																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:31868356_31868357insGT	ENST00000375527.2	-	2	901_902	c.726_727insAC	c.(724-729)caccttfs	p.L243fs	EHMT2_ENST00000375537.4_5'Flank|C2_ENST00000452323.2_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375530.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	243	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						AGCTCCCCAAGGTGGCCACCCA	0.668																																																	0																																										SO:0001589	frameshift_variant	0			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	19066	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 46"	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.725_726dupAC	6.37:g.31868357_31868358dupGT	ENSP00000364677:p.Leu243fs		B0UY00|Q5JQ98	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L242fs	ENST00000375527.2	37	c.727_726	CCDS4727.1	6																																																																																			ZBTB12	-	NULL	ENSG00000204366		0.668	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2		0	98	0	-	NM_181842		31868357	-1	tier1		no_errors	ENST00000375527	ensembl	human	known	74_37	frame_shift_ins	38.26	92	57	INS	0.994:0.996	GT	GT	31868357	-	GT	31868356	7	5	92	1	0	1	1	0	0	0	0	0	17573	1000	35	0	656	0	ZBTB12	6	31868356	Frame_Shift_Ins	INS	-	TCGA-L5-A8NT-01A-11D-A37C-09	2294920	31868356	139246711	82	26657											
LEMD2	221496	genome.wustl.edu	37	chr6	33746063	33746063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcagtgagcaaggccCggctcaggcggcagccaaca	11	3	14	13	2	1	2	1	2	0	0	1	2	1	2	2	4	4	4	2	4	2	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:33746063C>T	ENST00000293760.5	-	6	1131	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_Missense_Mutation_p.R69Q	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	371					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GAGCAAGGCCCGGCTCAGGCG	0.582																																																	0													89	86	87					6																	33746063		2203	4300	6503	SO:0001583	missense	0				CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.1112G>A	6.37:g.33746063C>T	ENSP00000293760:p.Arg371Gln		B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom	p.R371Q	ENST00000293760.5	37	c.1112	CCDS4785.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.267250|5.267250	0.95399|0.95399	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000442696|ENST00000293760;ENST00000508327	.|.	.|.	.|.	5.65|5.65	4.77|4.77	0.60923|0.60923	.|Inner nuclear membrane protein MAN1 (1);	.|0.107028	.|0.39475	.|N	.|0.001350	T|T	0.68851|0.68851	0.3046|0.3046	L|L	0.56769|0.56769	1.78|1.78	0.40756|0.40756	D|D	0.982968|0.982968	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72625	.|0.978;0.978	T|T	0.72786|0.72786	-0.4188|-0.4188	5|9	.|0.52906	.|T	.|0.07	-5.523|-5.523	15.8448|15.8448	0.78879|0.78879	0.1369:0.8631:0.0:0.0|0.1369:0.8631:0.0:0.0	.|.	.|371;332	.|Q8NC56;A8MS91	.|LEMD2_HUMAN;.	R|Q	237|371;69	.|.	.|ENSP00000293760:R371Q	G|R	-|-	1|2	0|0	LEMD2|LEMD2	33854041|33854041	0.999000|0.999000	0.42202|0.42202	0.929000|0.929000	0.37066|0.37066	0.979000|0.979000	0.70002|0.70002	4.648000|4.648000	0.61425|0.61425	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	GGG|CGG	LEMD2	-	pfam_Inner-Nucl-membr_MAN1	ENSG00000161904		0.582	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEMD2	HGNC	protein_coding	OTTHUMT00000040209.3	-	0	61	0	C	XM_166338		33746063	-1	tier1	-	no_errors	ENST00000293760	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.997	T	T	33746063	C	T	33746063	3	4	92	1	0	0	0	0	1	0	0	0	8748	652	23	1	415	1	LEMD2	6	33746063	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1877707	33746063	137369004	83	26658											
EYS	346007	genome.wustl.edu	37	chr6	65300723	65300723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaagtcaaatcagaattCatcaagtctgaagagatagt	16	12	8	5	0	5	4	4	2	1	2	5	5	5	4	0	0	0	0	0	0	6	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:65300723C>T	ENST00000370621.3	-	26	5563	c.5037G>A	c.(5035-5037)atG>atA	p.M1679I	EYS_ENST00000503581.1_Missense_Mutation_p.M1679I|EYS_ENST00000370616.2_Missense_Mutation_p.M1679I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1679					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AATCAGAATTCATCAAGTCTG	0.308																																																	0													78	72	74					6																	65300723		692	1591	2283	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.5037G>A	6.37:g.65300723C>T	ENSP00000359655:p.Met1679Ile		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.M1679I	ENST00000370621.3	37	c.5037		6	.	.	.	.	.	.	.	.	.	.	C	9.368	1.069670	0.20147	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.82255	-1.59;-1.57;-1.57	5.56	-1.42	0.08913	.	.	.	.	.	T	0.43055	0.1230	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.001	T	0.37526	-0.9702	9	0.45353	T	0.12	.	6.5747	0.22560	0.0:0.3827:0.1252:0.492	.	1679;1679	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	I	1679	ENSP00000424243:M1679I;ENSP00000359655:M1679I;ENSP00000359650:M1679I	ENSP00000359650:M1679I	M	-	3	0	EYS	65357444	0.000000	0.05858	0.173000	0.22940	0.865000	0.49528	-0.118000	0.10692	-0.047000	0.13423	0.591000	0.81541	ATG	EYS	-	NULL	ENSG00000188107		0.308	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3		0	36	0	C	XM_294050		65300723	-1			no_errors	ENST00000370616	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.000	T	T	65300723	C	T	65300723	3	4	92	1	0	0	0	0	1	0	0	0	5348	826	29	3	4314	3	EYS	6	65300723	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	31554660	65300723	105814344	84	26659											
C6orf97	80129	genome.wustl.edu	37	chr6	151894421	151894421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcaaagcaggaagtgaGcctcctgaagaaaagctctt	13	8	10	10	0	2	3	1	2	1	1	3	4	3	4	3	1	4	2	3	1	5	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:151894421G>T	ENST00000239374.7	+	6	986	c.887G>T	c.(886-888)aGc>aTc	p.S296I	CCDC170_ENST00000367290.5_Missense_Mutation_p.S296I	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	296																	CAGGAAGTGAGCCTCCTGAAG	0.478																																																	0													70	73	72					6																	151894421		1962	4157	6119	SO:0001583	missense	0			AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 97"	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.887G>T	6.37:g.151894421G>T	ENSP00000239374:p.Ser296Ile		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_Smac_DIABLO-like	p.S296I	ENST00000239374.7	37	c.887	CCDS43515.1	6	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021692	0.19433	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.12774	2.65;2.65	5.46	-0.633	0.11519	.	0.567823	0.20989	N	0.082071	T	0.04003	0.0112	L	0.53249	1.67	0.09310	N	1	P	0.46706	0.883	B	0.42771	0.397	T	0.29518	-1.0009	10	0.40728	T	0.16	-1.2202	2.2615	0.04068	0.349:0.114:0.4201:0.117	.	296	Q8IYT3	CF097_HUMAN	I	296	ENSP00000239374:S296I;ENSP00000356259:S296I	ENSP00000239374:S296I	S	+	2	0	C6orf97	151936114	0.153000	0.22777	0.038000	0.18304	0.131000	0.20780	0.325000	0.19628	-0.360000	0.08138	-0.874000	0.02982	AGC	CCDC170	-	NULL	ENSG00000120262		0.478	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC170	HGNC	protein_coding	OTTHUMT00000042727.2	-	0	76	0	G	NM_025059		151894421	1	tier1	-	no_errors	ENST00000367290	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.020	T	T	151894421	G	T	151894421	3	4	92	1	0	0	0	0	1	0	0	0	2381	971	34	3	909	3	C6orf97	6	151894421	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	86593698	151894421	19220646	85	26660											
SYNE1	23345	genome.wustl.edu	37	chr6	152576221	152576221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttaatgtctttggcaaGaatctagaggtgataaaagg	13	13	10	5	0	2	3	0	1	2	2	3	3	3	3	1	3	0	1	1	3	6	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:152576221G>T	ENST00000367255.5	-	104	19865	c.19264C>A	c.(19264-19266)Ctt>Att	p.L6422I	SYNE1_ENST00000423061.1_Missense_Mutation_p.L6351I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L6351I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L6422I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L6034I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L946I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6422					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTTGGCAAGAATCTAGAGG	0.333										HNSCC(10;0.0054)																																							0													56	50	52					6																	152576221		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19264C>A	6.37:g.152576221G>T	ENSP00000356224:p.Leu6422Ile		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6422I	ENST00000367255.5	37	c.19264	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600398	0.87055	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.70631	-0.4;-0.44;-0.5;-0.43;-0.13;1.97	5.87	5.87	0.94306	.	0.000000	0.53938	D	0.000047	D	0.82365	0.5021	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.991;0.996	T	0.82157	-0.0596	10	0.62326	D	0.03	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	6422;6422;6351	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6422;6351;6422;6351;6034;946	ENSP00000356224:L6422I;ENSP00000396024:L6351I;ENSP00000265368:L6422I;ENSP00000390975:L6351I;ENSP00000341887:L6034I;ENSP00000349276:L946I	ENSP00000265368:L6422I	L	-	1	0	SYNE1	152617914	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.159000	0.77483	2.785000	0.95823	0.655000	0.94253	CTT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.333	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0	49	0	G	NM_182961		152576221	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	T	T	152576221	G	T	152576221	3	4	92	1	0	0	0	0	1	0	0	0	15492	942	33	3	7374	3	SYNE1	6	152576221	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	681800	152576221	18538846	86	26661											
NOX3	50508	genome.wustl.edu	37	chr6	155751997	155751997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggtaatgacaacttcttGttgaaatcgccagaacctaa	13	12	7	9	1	1	3	0	2	1	1	2	3	1	3	2	1	2	2	2	1	5	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:155751997G>T	ENST00000159060.2	-	8	973	c.871C>A	c.(871-873)Caa>Aaa	p.Q291K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	291	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACAACTTCTTGTTGAAATCGC	0.368																																																	0													99	93	95					6																	155751997		2203	4300	6503	SO:0001583	missense	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.871C>A	6.37:g.155751997G>T	ENSP00000159060:p.Gln291Lys		Q9HBJ9	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.Q291K	ENST00000159060.2	37	c.871	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117376	0.77323	.	.	ENSG00000074771	ENST00000159060	T	0.13657	2.57	5.86	5.86	0.93980	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000004	T	0.22898	0.0553	L	0.49455	1.56	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	T	0.00934	-1.1509	10	0.16896	T	0.51	-18.6392	20.5632	0.99335	0.0:0.0:1.0:0.0	.	291	Q9HBY0	NOX3_HUMAN	K	291	ENSP00000159060:Q291K	ENSP00000159060:Q291K	Q	-	1	0	NOX3	155793689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.773000	0.75006	2.937000	0.99478	0.650000	0.86243	CAA	NOX3	-	superfamily_Riboflavin_synthase-like_b-brl	ENSG00000074771		0.368	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1		0	27	0	G			155751997	-1			no_errors	ENST00000159060	ensembl	human	known	74_37	missense	5.88	31	2	SNP	1.000	T	T	155751997	G	T	155751997	3	4	92	1	0	0	0	0	1	0	0	0	10596	1386	48	3	859	3	NOX3	6	155751997	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	3175776	155751997	15363070	87	26662											
SNX9	51429	genome.wustl.edu	37	chr6	158363834	158363834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtcagattgcagaaaaGctgaggcaggccctcagccg	10	8	12	11	1	3	3	2	1	1	2	3	3	3	3	2	2	3	3	2	2	2	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr6:158363834G>T	ENST00000392185.3	+	18	1923	c.1752G>T	c.(1750-1752)aaG>aaT	p.K584N		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	584	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TTGCAGAAAAGCTGAGGCAGG	0.458																																																	0													59	64	62					6																	158363834		2203	4300	6503	SO:0001583	missense	0			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"Sorting nexins"	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1752G>T	6.37:g.158363834G>T	ENSP00000376024:p.Lys584Asn		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.K584N	ENST00000392185.3	37	c.1752	CCDS5253.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035580	0.93630	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.44881	0.91	5.68	5.68	0.88126	Sorting nexin protein, WASP-binding domain (1);	0.084793	0.85682	D	0.000000	T	0.63977	0.2557	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.65088	-0.6253	10	0.59425	D	0.04	-33.6181	20.1325	0.98004	0.0:0.0:1.0:0.0	.	584	Q9Y5X1	SNX9_HUMAN	N	584;584;384	ENSP00000376024:K584N	ENSP00000252631:K384N	K	+	3	2	SNX9	158283822	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.002000	0.63952	2.839000	0.97877	0.650000	0.86243	AAG	SNX9	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000130340		0.458	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX9	HGNC	protein_coding	OTTHUMT00000042856.1		0	56	0	G			158363834	1			no_errors	ENST00000392185	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	158363834	G	T	158363834	3	4	92	1	0	0	0	0	1	0	0	0	14954	962	34	3	1822	3	SNX9	6	158363834	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2611837	158363834	12751233	88	26663											
SDK1	221935	genome.wustl.edu	37	chr7	4056815	4056815	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcaggtaccgcctggcTggccttcccggagagtacca	6	7	14	14	3	0	1	0	0	0	1	1	2	1	1	5	5	2	4	5	5	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:4056815T>A	ENST00000404826.2	+	17	2572	c.2433T>A	c.(2431-2433)gcT>gcA	p.A811A	SDK1_ENST00000389531.3_Silent_p.A811A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	811	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCGCCTGGCTGGCCTTCCCG	0.572																																																	0													57	49	51					7																	4056815		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2433T>A	7.37:g.4056815T>A			Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A811	ENST00000404826.2	37	c.2433	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	-	0	90	0	T	NM_152744		4056815	1	tier1	-	no_errors	ENST00000404826	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.079	A	A	4056815	T	A	4056815	2	1	92	1	0	0	0	0	0	0	0	1	14013	1567	55	5		5	SDK1	7	4056815	Silent	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09		4056815	155081848	89	26664											
DAGLB	221955	genome.wustl.edu	37	chr7	6464413	6464413	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtccccctcacagcgacCacaacagactctttcctgtg	9	9	7	16	1	2	1	1	0	1	1	4	2	4	1	4	1	2	0	4	1	1	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:6464413C>A	ENST00000297056.6	-	8	1279	c.1110G>T	c.(1108-1110)gtG>gtT	p.V370V	DAGLB_ENST00000428902.2_Silent_p.V243V|DAGLB_ENST00000425398.2_Silent_p.V241V|DAGLB_ENST00000421761.2_Silent_p.V114V|DAGLB_ENST00000436575.1_Silent_p.V329V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	370					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCACAGCGACCACAACAGACT	0.577																																																	0													137	116	123					7																	6464413		2203	4300	6503	SO:0001819	synonymous_variant	0			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1110G>T	7.37:g.6464413C>A			A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	pfam_Lipase_3	p.V370	ENST00000297056.6	37	c.1110	CCDS5350.1	7																																																																																			DAGLB	-	pfam_Lipase_3	ENSG00000164535		0.577	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2	-	0	31	0	C	NM_139179		6464413	-1	tier1	-	no_errors	ENST00000297056	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	A	A	6464413	C	A	6464413	2	1	92	1	0	0	0	0	0	0	0	1	4236	581	21	3		3	DAGLB	7	6464413	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2407598	6464413	152674250	90	26665											
SEMA3E	9723	genome.wustl.edu	37	chr7	83026033	83026033	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtgattactttcagcAcaattccattatctgtaaga	14	15	5	7	0	2	2	1	1	1	1	3	2	3	2	1	0	2	2	1	0	5	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:83026033A>T	ENST00000307792.3	-	12	1846	c.1379T>A	c.(1378-1380)gTg>gAg	p.V460E	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V400E	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	460	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TACTTTCAGCACAATTCCATT	0.323																																																	0													96	85	88					7																	83026033		2202	4297	6499	SO:0001583	missense	0			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10727	protein-coding gene	gene with protein product	"M-sema H"	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1379T>A	7.37:g.83026033A>T	ENSP00000303212:p.Val460Glu		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.V460E	ENST00000307792.3	37	c.1379	CCDS34674.1	7	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472348	0.84533	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.30714	1.52;1.52	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.127876	0.53938	D	0.000058	T	0.65698	0.2716	M	0.93898	3.47	0.80722	D	1	D	0.54397	0.966	D	0.67231	0.95	T	0.75662	-0.3240	10	0.87932	D	0	.	16.2076	0.82138	1.0:0.0:0.0:0.0	.	460	O15041	SEM3E_HUMAN	E	460;400;460	ENSP00000303212:V460E;ENSP00000405052:V400E	ENSP00000303212:V460E	V	-	2	0	SEMA3E	82863969	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	9.236000	0.95360	2.285000	0.76669	0.477000	0.44152	GTG	SEMA3E	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000170381		0.323	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3E	HGNC	protein_coding	OTTHUMT00000336606.1	-	0	54	0	A	NM_012431		83026033	-1	tier1	-	no_errors	ENST00000307792	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	83026033	A	T	83026033	3	4	92	1	0	0	0	0	1	0	0	0	14073	159	6	5	972	5	SEMA3E	7	83026033	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	76561620	83026033	76112630	91	26666											
ZNF804B	219578	genome.wustl.edu	37	chr7	88964965	88964965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaaagtcaggcccatgaAgtgtaactccgggaatatca	14	7	12	8	1	2	1	2	1	0	0	3	3	3	3	2	3	1	1	2	3	6	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:88964965A>C	ENST00000333190.4	+	4	3278	c.2669A>C	c.(2668-2670)aAg>aCg	p.K890T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	890							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGGCCCATGAAGTGTAACTCC	0.438										HNSCC(36;0.09)																																							0													66	69	68					7																	88964965		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2669A>C	7.37:g.88964965A>C	ENSP00000329638:p.Lys890Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.K890T	ENST00000333190.4	37	c.2669	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234674	0.09969	.	.	ENSG00000182348	ENST00000333190	T	0.05786	3.39	4.89	0.964	0.19655	.	0.827728	0.10700	N	0.644149	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.43278	-0.9401	10	0.49607	T	0.09	0.0	6.2964	0.21089	0.6686:0.1232:0.2082:0.0	.	890	A4D1E1	Z804B_HUMAN	T	890	ENSP00000329638:K890T	ENSP00000329638:K890T	K	+	2	0	ZNF804B	88802901	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.037000	0.13840	0.078000	0.16900	0.460000	0.39030	AAG	ZNF804B	-	NULL	ENSG00000182348		0.438	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	75	0	A	NM_181646		88964965	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	28.57	55	22	SNP	0.001	C	C	88964965	A	C	88964965	3	2	92	1	0	0	0	0	1	0	0	0	18219	72	3	4	2683	4	ZNF804B	7	88964965	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	5938932	88964965	70173698	92	26667											
ZNF804B	219578	genome.wustl.edu	37	chr7	88965418	88965418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagagtctcagtcactaaAcataaaaagggatgcaacaa	20	6	7	8	0	2	1	2	0	1	1	3	2	2	2	0	1	4	1	0	1	8	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:88965418A>T	ENST00000333190.4	+	4	3731	c.3122A>T	c.(3121-3123)aAc>aTc	p.N1041I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1041							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAGTCACTAAACATAAAAAGG	0.328										HNSCC(36;0.09)																																							0													66	63	64					7																	88965418		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3122A>T	7.37:g.88965418A>T	ENSP00000329638:p.Asn1041Ile		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.N1041I	ENST00000333190.4	37	c.3122	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701794	0.48307	.	.	ENSG00000182348	ENST00000333190	T	0.05855	3.38	5.04	2.7	0.31948	.	0.150855	0.47455	D	0.000229	T	0.10723	0.0262	L	0.29908	0.895	0.30059	N	0.811107	D	0.63880	0.993	P	0.60789	0.879	T	0.02581	-1.1138	10	0.72032	D	0.01	-12.6339	8.1923	0.31376	0.7406:0.0:0.2594:0.0	.	1041	A4D1E1	Z804B_HUMAN	I	1041	ENSP00000329638:N1041I	ENSP00000329638:N1041I	N	+	2	0	ZNF804B	88803354	0.998000	0.40836	0.973000	0.42090	0.868000	0.49771	1.961000	0.40432	0.508000	0.28173	-0.250000	0.11733	AAC	ZNF804B	-	NULL	ENSG00000182348		0.328	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	46	0	A	NM_181646		88965418	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.996	T	T	88965418	A	T	88965418	3	4	92	1	0	0	0	0	1	0	0	0	18219	43	2	5	3136	5	ZNF804B	7	88965418	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	453	88965418	70173245	93	26668											
DOCK4	9732	genome.wustl.edu	37	chr7	111407142	111407142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatactgctctgcaatCttccggcacaagataatgcc	10	11	6	14	1	3	1	1	0	3	1	5	1	4	1	2	1	4	3	2	1	4	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:111407142C>A	ENST00000437633.1	-	37	4090	c.3834G>T	c.(3832-3834)aaG>aaT	p.K1278N	DOCK4_ENST00000494651.2_Missense_Mutation_p.K161N|DOCK4_ENST00000428084.1_Missense_Mutation_p.K1287N	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1278	DHR-2.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GCTCTGCAATCTTCCGGCACA	0.453																																																	0													182	177	179					7																	111407142		1960	4157	6117	SO:0001583	missense	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3834G>T	7.37:g.111407142C>A	ENSP00000404179:p.Lys1278Asn		O14584|O94824|Q8NB45	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain	p.K1287N	ENST00000437633.1	37	c.3861	CCDS47688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.083600|4.083600	0.76642|0.76642	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129;ENST00000450156|ENST00000423057;ENST00000445943	T;T;T;T;T|.	0.45276|.	4.08;3.35;4.09;0.91;0.9|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.044644|.	0.85682|.	D|.	0.000000|.	T|T	0.52645|0.52645	0.1747|0.1747	L|L	0.27053|0.27053	0.805|0.805	0.51767|0.51767	D|D	0.999938|0.999938	B;P;B;B;P|.	0.35139|.	0.228;0.486;0.354;0.354;0.486|.	B;B;B;B;B|.	0.38225|.	0.063;0.268;0.179;0.063;0.199|.	T|T	0.43988|0.43988	-0.9357|-0.9357	10|5	0.72032|.	D|.	0.01|.	.|.	13.3014|13.3014	0.60328|0.60328	0.0:0.919:0.0:0.081|0.0:0.919:0.0:0.081	.|.	185;161;1323;1278;1287|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	N|I	1266;1287;161;1278;1275;152;161|739;1311	ENSP00000410746:K1287N;ENSP00000440944:K161N;ENSP00000404179:K1278N;ENSP00000406298:K152N;ENSP00000406468:K161N|.	ENSP00000345432:K1275N|.	K|R	-|-	3|2	2|0	DOCK4|DOCK4	111194378|111194378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.641000|3.641000	0.54360|0.54360	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	AAG|AGA	DOCK4	-	NULL	ENSG00000128512		0.453	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	-	0	50	0	C	NM_014705		111407142	-1	tier1	-	no_errors	ENST00000428084	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	A	A	111407142	C	A	111407142	3	1	92	1	0	0	0	0	1	0	0	0	4703	912	32	3	2130	3	DOCK4	7	111407142	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	22441724	111407142	47731521	94	26669											
GCC1	79571	genome.wustl.edu	37	chr7	127222498	127222498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctatcagaggatgatGtgtcagctgggtccccagga	9	9	14	9	0	3	2	3	1	0	1	4	4	4	4	2	4	1	2	2	4	1	1	rs553167690		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:127222498G>T	ENST00000321407.2	-	2	2322	c.1898C>A	c.(1897-1899)aCa>aAa	p.T633K	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	633					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGAGGATGATGTGTCAGCTGG	0.592													G|||	1	0.000199681	0	0	5008	,	,		21567	0		0	False		,,,				2504	0.001																0													104	103	103					7																	127222498		2203	4300	6503	SO:0001583	missense	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1898C>A	7.37:g.127222498G>T	ENSP00000318821:p.Thr633Lys		Q9H6N7	Missense_Mutation	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.T633K	ENST00000321407.2	37	c.1898	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	0	-2.812377	0.00073	.	.	ENSG00000179562	ENST00000321407	T	0.10960	2.82	4.3	2.5	0.30297	.	0.956388	0.08731	N	0.902106	T	0.05593	0.0147	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42189	-0.9466	10	0.06891	T	0.86	-0.5698	6.8853	0.24197	0.2067:0.0:0.7933:0.0	.	633	Q96CN9	GCC1_HUMAN	K	633	ENSP00000318821:T633K	ENSP00000318821:T633K	T	-	2	0	GCC1	127009734	0.000000	0.05858	0.006000	0.13384	0.062000	0.15995	-0.030000	0.12308	0.757000	0.33036	0.655000	0.94253	ACA	GCC1	-	NULL	ENSG00000179562		0.592	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	-	0	58	0	G	NM_024523		127222498	-1	tier1	-	no_errors	ENST00000321407	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.035	T	T	127222498	G	T	127222498	3	4	92	1	0	0	0	0	1	0	0	0	6310	1377	48	3	433	3	GCC1	7	127222498	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	15815356	127222498	31916165	95	26670											
GCC1	79571	genome.wustl.edu	37	chr7	127225152	127225152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgtgcctggtactggaGaagctgcttcttctgggtct	5	12	14	10	1	3	1	0	0	3	1	3	3	3	1	2	3	5	3	2	3	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:127225152G>T	ENST00000321407.2	-	1	509	c.85C>A	c.(85-87)Ctc>Atc	p.L29I	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	29					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.L29F(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGTACTGGAGAAGCTGCTTC	0.542											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - Missense(1)	kidney(1)											100	103	102					7																	127225152		2203	4300	6503	SO:0001583	missense	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"golgi coiled-coil 1"			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.85C>A	7.37:g.127225152G>T	ENSP00000318821:p.Leu29Ile	1555	Q9H6N7	Missense_Mutation	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.L29I	ENST00000321407.2	37	c.85	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	2.743	-0.261799	0.05791	.	.	ENSG00000179562	ENST00000321407	T	0.11821	2.74	5.67	-0.705	0.11252	.	0.535420	0.18228	N	0.147673	T	0.09642	0.0237	L	0.51422	1.61	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.25779	-1.0122	10	0.37606	T	0.19	-0.123	2.2256	0.03983	0.2098:0.2369:0.4315:0.1218	.	29	Q96CN9	GCC1_HUMAN	I	29	ENSP00000318821:L29I	ENSP00000318821:L29I	L	-	1	0	GCC1	127012388	0.005000	0.15991	0.101000	0.21167	0.251000	0.25915	0.110000	0.15437	-0.460000	0.07003	-1.012000	0.02466	CTC	GCC1	-	NULL	ENSG00000179562		0.542	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3		0	37	0	G	NM_024523		127225152	-1			no_errors	ENST00000321407	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.081	T	T	127225152	G	T	127225152	3	4	92	1	0	0	0	0	1	0	0	0	6310	942	33	3	2250	3	GCC1	7	127225152	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2654	127225152	31913511	96	26671											
PAX4	5078	genome.wustl.edu	37	chr7	127253852	127253852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttggggagaagatagtccGattccggtggccggtccctg	6	9	16	10	3	0	2	0	0	0	2	3	4	3	2	4	5	0	1	4	5	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:127253852G>A	ENST00000341640.2	-	4	701	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	PAX4_ENST00000463946.1_Missense_Mutation_p.R164W|PAX4_ENST00000338516.3_Missense_Mutation_p.R174W|PAX4_ENST00000378740.2_Missense_Mutation_p.R166W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	174					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AAGATAGTCCGATTCCGGTGG	0.587																																					Ovarian(113;737 1605 7858 27720 34092)												0													84	82	83					7																	127253852		2203	4300	6503	SO:0001583	missense	0				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.496C>T	7.37:g.127253852G>A	ENSP00000339906:p.Arg166Trp		O95161|Q6B0H0	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.R166W	ENST00000341640.2	37	c.496	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310256	0.81358	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99186	-5.53;-5.53;-5.53	5.32	5.32	0.75619	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.070525	0.64402	D	0.000019	D	0.99447	0.9804	H	0.95504	3.68	0.52501	D	0.999957	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.962;1.0;0.999;0.943	D	0.98507	1.0617	10	0.87932	D	0	.	11.9	0.52678	0.0:0.0:0.8259:0.174	.	166;164;174;164	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	W	166;174;174;164	ENSP00000339906:R166W;ENSP00000344297:R174W;ENSP00000451923:R164W	ENSP00000344297:R174W	R	-	1	2	PAX4	127041088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.812000	0.47994	2.661000	0.90470	0.650000	0.86243	CGG	PAX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000106331		0.587	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	-	0	65	0	G			127253852	-1	tier1	-	no_errors	ENST00000341640	ensembl	human	known	74_37	missense	25.25	74	25	SNP	1.000	A	A	127253852	G	A	127253852	3	1	92	1	0	0	0	0	1	0	0	0	11520	1057	37	1	559	1	PAX4	7	127253852	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	28700	127253852	31884811	97	26672											
AHCYL2	23382	genome.wustl.edu	37	chr7	129040214	129040214	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaatgtggagggctggCagccaaacatggtgggtcag	9	8	18	6	0	1	1	1	1	0	0	1	2	1	2	1	5	2	2	1	5	2	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:129040214C>T	ENST00000325006.3	+	6	961	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	AHCYL2_ENST00000474594.1_Nonsense_Mutation_p.Q200*|AHCYL2_ENST00000490911.1_Nonsense_Mutation_p.Q200*|AHCYL2_ENST00000446544.2_Nonsense_Mutation_p.Q302*|AHCYL2_ENST00000531335.2_Nonsense_Mutation_p.Q222*|AHCYL2_ENST00000446212.1_Nonsense_Mutation_p.Q201*	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	303					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGAGGGCTGGCAGCCAAACAT	0.488																																					Pancreas(160;1736 1964 29875 40941 45605)												0													158	151	154					7																	129040214		2203	4300	6503	SO:0001587	stop_gained	0			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"S-adenosylhomocysteine hydrolase-like 2"				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.907C>T	7.37:g.129040214C>T	ENSP00000315931:p.Gln303*		B4DIZ5|D9N155|O94917	Nonsense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.Q303*	ENST00000325006.3	37	c.907	CCDS5812.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.253162	0.95336	.	.	ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-3.9956	17.128	0.86719	0.0:1.0:0.0:0.0	.	.	.	.	X	303;302;222;200;201;200	.	ENSP00000315931:Q303X	Q	+	1	0	AHCYL2	128827450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.572000	0.67411	2.446000	0.82766	0.563000	0.77884	CAG	AHCYL2	-	pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000158467		0.488	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	-	0	97	0	C			129040214	1	tier1	-	no_errors	ENST00000325006	ensembl	human	known	74_37	nonsense	5.21	91	5	SNP	1.000	T	T	129040214	C	T	129040214	4	4	92	1	0	0	0	0	0	1	0	0	411	711	25	3	1051	3	AHCYL2	7	129040214	Nonsense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1786362	129040214	30098449	98	26673											
PLXNA4	91584	genome.wustl.edu	37	chr7	131831446	131831446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtcggggctgcccgtgtaCcggatcatgttttctgccaa	5	12	12	12	3	2	0	1	0	1	0	3	1	2	1	3	3	3	3	3	3	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:131831446C>T	ENST00000359827.3	-	28	5840	c.4878G>A	c.(4876-4878)cgG>cgA	p.R1626R	PLXNA4_ENST00000321063.4_Silent_p.R1626R			Q9HCM2	PLXA4_HUMAN	plexin A4	1626					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCCGTGTACCGGATCATGT	0.572																																																	0													110	123	118					7																	131831446		2175	4290	6465	SO:0001819	synonymous_variant	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4878G>A	7.37:g.131831446C>T			A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1626	ENST00000359827.3	37	c.4878	CCDS43646.1	7																																																																																			PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.572	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	72	0	C	NM_181775		131831446	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	silent	6.67	70	5	SNP	1.000	T	T	131831446	C	T	131831446	2	4	92	1	0	0	0	0	0	0	0	1	12161	494	18	3		3	PLXNA4	7	131831446	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2791232	131831446	27307217	99	26674											
DENND2A	27147	genome.wustl.edu	37	chr7	140269504	140269504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgtttctttcctctcCggacctcataaatggcgttg	6	14	7	14	3	4	0	2	0	2	0	6	1	5	1	4	2	0	2	4	2	2	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:140269504C>T	ENST00000275884.6	-	6	1898	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q	DENND2A_ENST00000492720.1_Missense_Mutation_p.R494Q|DENND2A_ENST00000537639.1_Missense_Mutation_p.R494Q|DENND2A_ENST00000496613.1_Missense_Mutation_p.R494Q			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	494					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTTCCTCTCCGGACCTCATA	0.567																																																	0													137	138	137					7																	140269504		1950	4161	6111	SO:0001583	missense	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1481G>A	7.37:g.140269504C>T	ENSP00000275884:p.Arg494Gln		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R494Q	ENST00000275884.6	37	c.1481	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677300	0.88445	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.12672	3.37;3.37;3.37;2.66	4.74	4.74	0.60224	.	0.081588	0.50627	N	0.000106	T	0.32285	0.0824	L	0.46157	1.445	0.54753	D	0.999986	D;P	0.89917	1.0;0.906	D;B	0.79108	0.992;0.259	T	0.05632	-1.0873	10	0.72032	D	0.01	-19.0906	17.7358	0.88392	0.0:1.0:0.0:0.0	.	494;494	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	Q	494	ENSP00000275884:R494Q;ENSP00000442245:R494Q;ENSP00000419654:R494Q;ENSP00000419464:R494Q	ENSP00000275884:R494Q	R	-	2	0	DENND2A	139915973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.424000	0.66464	2.184000	0.69523	0.462000	0.41574	CGG	DENND2A	-	NULL	ENSG00000146966		0.567	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	-	0	77	0	C	NM_015689		140269504	-1	tier1	-	no_errors	ENST00000275884	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T	T	140269504	C	T	140269504	3	4	92	1	0	0	0	0	1	0	0	0	4443	652	23	1	1604	1	DENND2A	7	140269504	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	8438058	140269504	18869159	100	26675											
FAM131B	9715	genome.wustl.edu	37	chr7	143054514	143054514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagcaaactgctccatgaCgcctgggggaagaaatgcaa	14	6	12	9	1	0	2	0	1	0	1	1	4	1	3	2	2	4	3	2	2	5	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr7:143054514C>T	ENST00000409408.1	-	5	2093	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	FAM131B_ENST00000409346.1_Missense_Mutation_p.V129I|FAM131B_ENST00000443739.2_Missense_Mutation_p.V157I|FAM131B_ENST00000409578.1_Missense_Mutation_p.V145I|FAM131B_ENST00000409222.3_Missense_Mutation_p.V129I			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	129										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					TGCTCCATGACGCCTGGGGGA	0.512																																																	0													112	100	104					7																	143054514		2203	4300	6503	SO:0001583	missense	0			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.385G>A	7.37:g.143054514C>T	ENSP00000387017:p.Val129Ile		A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NULL	p.V157I	ENST00000409408.1	37	c.469	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	C	14.70	2.615166	0.46631	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.68	5.68	0.88126	.	0.057498	0.64402	D	0.000001	T	0.34919	0.0914	L	0.60845	1.875	0.54753	D	0.999981	P;P	0.47545	0.858;0.897	B;B	0.32928	0.155;0.127	T	0.41734	-0.9492	10	0.62326	D	0.03	-13.3059	19.798	0.96494	0.0:1.0:0.0:0.0	.	145;129	Q86XD5-2;Q86XD5	.;F131B_HUMAN	I	157;145;129;133;129;129	ENSP00000410603:V157I;ENSP00000386568:V145I;ENSP00000386984:V129I;ENSP00000387017:V129I;ENSP00000387147:V129I	ENSP00000387147:V129I	V	-	1	0	FAM131B	142764636	0.999000	0.42202	0.973000	0.42090	0.403000	0.30841	4.228000	0.58619	2.677000	0.91161	0.563000	0.77884	GTC	FAM131B	-	NULL	ENSG00000159784		0.512	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	HGNC	protein_coding	OTTHUMT00000328057.1	-	0	49	0	C	NM_014690		143054514	-1	tier1	-	no_errors	ENST00000443739	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.993	T	T	143054514	C	T	143054514	3	4	92	1	0	0	0	0	1	0	0	0	5459	536	19	1	621	1	FAM131B	7	143054514	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2785010	143054514	16084149	101	26676											
FAM110B	90362	genome.wustl.edu	37	chr8	59059539	59059539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaaccagcttgtggagtCagccgaagaccctccctcca	9	7	11	14	1	1	1	1	0	0	1	3	4	3	3	5	2	3	1	5	2	2	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:59059539C>T	ENST00000361488.3	+	5	1630	c.750C>T	c.(748-750)gtC>gtT	p.V250V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	250						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CTTGTGGAGTCAGCCGAAGAC	0.597																																																	0													89	99	96					8																	59059539		2203	4300	6503	SO:0001819	synonymous_variant	0			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"chromosome 8 open reading frame 72"	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.750C>T	8.37:g.59059539C>T			Q5BM08|Q9Y4K2	Silent	SNP	NULL	p.V250	ENST00000361488.3	37	c.750	CCDS6170.1	8																																																																																			FAM110B	-	NULL	ENSG00000169122		0.597	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	HGNC	protein_coding	OTTHUMT00000378095.2	-	0	42	0	C	NM_147189		59059539	1	tier1	-	no_errors	ENST00000361488	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.999	T	T	59059539	C	T	59059539	2	4	92	1	0	0	0	0	0	0	0	1	5416	813	29	3		3	FAM110B	8	59059539	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		59059539	87304483	102	26677											
C8orf45	157777	genome.wustl.edu	37	chr8	67803140	67803140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttgtcccccgtggtataCgtcatctagtctctactgaa	8	13	7	13	2	3	1	1	1	2	0	5	1	4	1	3	1	2	1	3	1	5	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:67803140C>T	ENST00000422365.2	+	10	1285	c.1114C>T	c.(1114-1116)Cgt>Tgt	p.R372C	MCMDC2_ENST00000396592.3_Missense_Mutation_p.R372C|MCMDC2_ENST00000541540.1_Missense_Mutation_p.R309C|MCMDC2_ENST00000313616.5_Missense_Mutation_p.R372C	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	372					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						CCGTGGTATACGTCATCTAGT	0.368																																																	0													113	115	114					8																	67803140		2203	4300	6503	SO:0001583	missense	0			BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"chromosome 8 open reading frame 45"	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1114C>T	8.37:g.67803140C>T	ENSP00000413632:p.Arg372Cys		B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	p.R372C	ENST00000422365.2	37	c.1114	CCDS6197.2	8	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056759	0.36277	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.84	3.97	0.46021	.	0.300117	0.36167	N	0.002743	T	0.32102	0.0818	L	0.53249	1.67	0.51012	D	0.999902	B;B;B	0.15930	0.015;0.009;0.009	B;B;B	0.09377	0.004;0.002;0.002	T	0.14090	-1.0485	10	0.54805	T	0.06	-0.8063	9.1053	0.36694	0.1462:0.7765:0.0:0.0773	.	309;372;372	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	C	244;372;372;372;309	ENSP00000379837:R372C;ENSP00000413632:R372C;ENSP00000317234:R372C;ENSP00000445629:R309C	ENSP00000317234:R372C	R	+	1	0	C8orf45	67965694	1.000000	0.71417	0.990000	0.47175	0.081000	0.17604	1.746000	0.38288	1.171000	0.42768	-0.218000	0.12543	CGT	MCMDC2	-	smart_MCM_DNA-dep_ATPase	ENSG00000178460		0.368	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCMDC2	HGNC	protein_coding	OTTHUMT00000347350.1	-	0	119	0	C	NM_173518		67803140	1	tier1	-	no_errors	ENST00000422365	ensembl	human	known	74_37	missense	40.71	67	46	SNP	0.999	T	T	67803140	C	T	67803140	3	4	92	1	0	0	0	0	1	0	0	0	2437	536	19	1	1148	1	C8orf45	8	67803140	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	8743601	67803140	78560882	103	26678											
KCNB2	9312	genome.wustl.edu	37	chr8	73480108	73480108	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggggggcctcaaccacGaagtcctgtggagaacgctg	9	7	15	10	2	1	1	1	0	0	1	2	3	2	1	3	4	2	1	3	4	3	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:73480108G>T	ENST00000523207.1	+	2	727	c.139G>T	c.(139-141)Gaa>Taa	p.E47*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	47					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CCTCAACCACGAAGTCCTGTG	0.567																																																	0													78	79	79					8																	73480108		2203	4300	6503	SO:0001587	stop_gained	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.139G>T	8.37:g.73480108G>T	ENSP00000430846:p.Glu47*		Q7Z7D0|Q9BXD3	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E47*	ENST00000523207.1	37	c.139	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	43	10.227923	0.99364	.	.	ENSG00000182674	ENST00000523207	.	.	.	5.58	4.7	0.59300	.	0.242902	0.21229	U	0.078020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	12.8046	0.57605	0.0:0.1248:0.7454:0.1298	.	.	.	.	X	47	.	ENSP00000430846:E47X	E	+	1	0	KCNB2	73642662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.355000	0.45865	0.563000	0.77884	GAA	KCNB2	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9	ENSG00000182674		0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	-	0	75	0	G	NM_004770		73480108	1	tier1	-	no_errors	ENST00000523207	ensembl	human	known	74_37	nonsense	32.63	63	31	SNP	1.000	T	T	73480108	G	T	73480108	4	4	92	1	0	0	0	0	0	1	0	0	8040	1059	37	2	141	2	KCNB2	8	73480108	Nonsense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	5676968	73480108	72883914	104	26679											
PGCP	10404	genome.wustl.edu	37	chr8	98155409	98155409	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaatgctgcctaggtccTagaaacagtaagaaagaaac	19	6	9	7	0	0	4	0	0	0	4	1	4	1	4	2	1	4	2	2	1	8	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:98155409T>C	ENST00000220763.5	+	8	1627	c.1417T>C	c.(1417-1419)Tag>Cag	p.*473Q	KB-1958F4.1_ENST00000602771.1_RNA	NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	0					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GCCTAGGTCCTAGAAACAGTA	0.423																																																	0													128	120	123					8																	98155409		2203	4300	6503	SO:0001578	stop_lost	0			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"lysosomal dipeptidase", "Ser-Met dipeptidase", "plasma glutamate carboxypeptidase"					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1417T>C	8.37:g.98155409T>C	ENSP00000220763:p.*473Glnext*3		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Nonstop_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.*473Q	ENST00000220763.5	37	c.1417	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	T	13.75	2.331663	0.41297	.	.	ENSG00000104324	ENST00000220763	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.4462	15.2168	0.73274	0.0:0.0:0.0:1.0	.	.	.	.	Q	473	.	.	X	+	1	0	AC010859.1	98224585	0.963000	0.33076	0.075000	0.20258	0.313000	0.28021	2.460000	0.45031	2.187000	0.69744	0.528000	0.53228	TAG	CPQ	-	NULL	ENSG00000104324		0.423	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	-	0	126	0	T	NM_016134		98155409	1	tier1	-	no_errors	ENST00000220763	ensembl	human	known	74_37	nonstop	29.79	99	42	SNP	0.147	C	C	98155409	T	C	98155409	4	2	92	1	0	0	0	0	0	0	0	0	11825	1535	53	4	1443	4	PGCP	8	98155409	Nonstop_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	24675301	98155409	48208613	105	26680											
RIMS2	9699	genome.wustl.edu	37	chr8	104897914	104897914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgaagtgtcccgagcaCggcatgagagaaggcatagt	12	7	14	8	2	0	3	0	2	0	1	1	5	1	3	1	2	2	4	1	2	3	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:104897914C>T	ENST00000436393.2	+	2	662	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.R363W|RIMS2_ENST00000507740.1_Missense_Mutation_p.R171W|RIMS2_ENST00000262231.10_Missense_Mutation_p.R171W			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	394	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCCCGAGCACGGCATGAGAG	0.478										HNSCC(12;0.0054)																																							0													96	95	95					8																	104897914		1999	4156	6155	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"RAB3 interacting protein 3"	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.421C>T	8.37:g.104897914C>T	ENSP00000390665:p.Arg141Trp		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R363W	ENST00000436393.2	37	c.1087		8	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046160	0.55110	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.32	-0.595	0.11660	.	.	.	.	.	T	0.59142	0.2172	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.998;1.0;0.999;1.0	T	0.60105	-0.7328	9	0.87932	D	0	.	9.9694	0.41745	0.4367:0.4974:0.0:0.0659	.	394;141;171;171;363	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	W	363;394;363;394;171;171;171;171;141	ENSP00000427018:R363W;ENSP00000384892:R363W;ENSP00000425205:R171W;ENSP00000262231:R171W;ENSP00000423559:R171W;ENSP00000386228:R171W;ENSP00000390665:R141W	ENSP00000262231:R171W	R	+	1	2	RIMS2	104967090	0.463000	0.25799	0.095000	0.20976	0.931000	0.56810	1.166000	0.31834	-0.118000	0.11851	0.467000	0.42956	CGG	RIMS2	-	NULL	ENSG00000176406		0.478	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0	69	0	C	NM_001100117		104897914	1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.443	T	T	104897914	C	T	104897914	3	4	92	1	0	0	0	0	1	0	0	0	13413	527	19	1	1227	1	RIMS2	8	104897914	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	6742505	104897914	41466108	106	26681											
ZFPM2	23414	genome.wustl.edu	37	chr8	106813340	106813340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccgtctgtagctacactGctgattccgtgatcaacttt	8	13	8	12	2	2	2	1	2	1	0	3	2	3	2	2	0	4	4	2	0	3	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:106813340G>T	ENST00000407775.2	+	8	1280	c.1030G>T	c.(1030-1032)Gct>Tct	p.A344S	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A212S|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A75S|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A212S|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	344					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TAGCTACACTGCTGATTCCGT	0.463																																																	0													201	194	196					8																	106813340		2017	4197	6214	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"Zinc fingers, C2H2-type", "Zinc fingers, C2HC-type containing"	16700	protein-coding gene	gene with protein product		603693	"zinc finger protein, multitype 2"			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1030G>T	8.37:g.106813340G>T	ENSP00000384179:p.Ala344Ser		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A344S	ENST00000407775.2	37	c.1030	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849221	0.71603	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);	0.103125	0.64402	D	0.000003	T	0.44973	0.1319	L	0.28344	0.845	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.15954	-1.0419	10	0.33940	T	0.23	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	344	Q8WW38	FOG2_HUMAN	S	344;212;212;75	ENSP00000384179:A344S;ENSP00000430757:A212S;ENSP00000428720:A212S;ENSP00000367733:A75S	ENSP00000367733:A75S	A	+	1	0	ZFPM2	106882516	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.831000	0.97527	0.650000	0.86243	GCT	ZFPM2	-	smart_Znf_C2H2-like	ENSG00000169946		0.463	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	-	0	86	0	G			106813340	1	tier1	-	no_errors	ENST00000407775	ensembl	human	known	74_37	missense	27.17	67	25	SNP	1.000	T	T	106813340	G	T	106813340	3	4	92	1	0	0	0	0	1	0	0	0	17706	1319	46	3	1060	3	ZFPM2	8	106813340	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1915426	106813340	39550682	107	26682											
ATAD2	29028	genome.wustl.edu	37	chr8	124392780	124392780	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtattaccttgtaaaatgCctgccattagcaagttgctc	10	15	7	9	0	0	0	0	0	0	0	1	0	0	0	3	0	5	5	3	0	6	7			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:124392780C>T	ENST00000287394.5	-	2	416	c.309G>A	c.(307-309)agG>agA	p.R103R	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	103					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGTAAAATGCCTGCCATTAG	0.333																																																	0													99	93	95					8																	124392780		2203	4300	6503	SO:0001819	synonymous_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.309G>A	8.37:g.124392780C>T			Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R103	ENST00000287394.5	37	c.309	CCDS6343.1	8																																																																																			ATAD2	-	NULL	ENSG00000156802		0.333	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	-	0	62	0	C	NM_014109		124392780	-1	tier1	-	no_errors	ENST00000287394	ensembl	human	known	74_37	silent	5.81	81	5	SNP	0.997	T	T	124392780	C	T	124392780	2	4	92	1	0	0	0	0	0	0	0	1	1072	738	26	3		3	ATAD2	8	124392780	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	17579440	124392780	21971242	108	26683											
ADCY8	114	genome.wustl.edu	37	chr8	132051794	132051794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcccaggagcccgtagccGaggcctgctgccaggatctg	6	6	14	15	3	1	0	0	0	1	0	2	3	1	2	5	3	4	2	5	3	1	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:132051794G>A	ENST00000286355.5	-	1	2878	c.786C>T	c.(784-786)ctC>ctT	p.L262L	ADCY8_ENST00000377928.3_Silent_p.L262L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	262					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCCCGTAGCCGAGGCCTGCTG	0.657										HNSCC(32;0.087)																																							0													44	39	41					8																	132051794		2203	4300	6503	SO:0001819	synonymous_variant	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.786C>T	8.37:g.132051794G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L262	ENST00000286355.5	37	c.786	CCDS6363.1	8																																																																																			ADCY8	-	NULL	ENSG00000155897		0.657	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	57	0	G			132051794	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	silent	23.46	62	19	SNP	0.304	A	A	132051794	G	A	132051794	2	1	92	1	0	0	0	0	0	0	0	1	300	1045	37	1		1	ADCY8	8	132051794	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	7659014	132051794	14312228	109	26684											
TRAPPC9	83696	genome.wustl.edu	37	chr8	140922425	140922425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcttgctgtggatcTccaggcctcgggcttcccgc	3	10	12	16	2	1	0	0	0	1	0	4	1	2	1	4	3	3	3	4	3	0	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr8:140922425T>C	ENST00000438773.2	-	20	3063	c.2930A>G	c.(2929-2931)gAg>gGg	p.E977G	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.E1075G|RP11-284H18.1_ENST00000518354.1_RNA|TRAPPC9_ENST00000522504.1_5'Flank|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E968G	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	977					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCTGTGGATCTCCAGGCCTCG	0.582																																																	0													55	62	59					8																	140922425		2203	4300	6503	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"Trafficking protein particle complex"	30832	protein-coding gene	gene with protein product	"TRAPP 120 kDa subunit", "tularik gene 1"	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2930A>G	8.37:g.140922425T>C	ENSP00000405060:p.Glu977Gly		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.E1075G	ENST00000438773.2	37	c.3224	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929170	0.73327	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.62	5.62	0.85841	.	0.057545	0.64402	D	0.000002	T	0.64516	0.2605	L	0.44542	1.39	0.43642	D	0.996047	D;P;P;P	0.61080	0.989;0.939;0.622;0.925	P;P;B;P	0.60236	0.871;0.724;0.204;0.691	T	0.60073	-0.7334	9	0.23302	T	0.38	.	15.0083	0.71530	0.0:0.0:0.0:1.0	.	1075;977;968;1075	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	G	1075;968;977	.	ENSP00000373978:E968G	E	-	2	0	TRAPPC9	140991607	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.044000	0.76578	2.149000	0.67028	0.533000	0.62120	GAG	TRAPPC9	-	NULL	ENSG00000167632		0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0	78	0	T	NM_031466		140922425	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	missense	15.62	81	15	SNP	1.000	C	C	140922425	T	C	140922425	3	2	92	1	0	0	0	0	1	0	0	0	16513	1551	54	4	532	4	TRAPPC9	8	140922425	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	8870631	140922425	5441597	110	26685											
LRRC19	64922	genome.wustl.edu	37	chr9	26996481	26996481	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggggtagctacacatGgtgatgttctcattttctag	7	16	11	7	0	2	1	1	1	2	0	3	1	2	1	0	3	2	4	0	3	3	7			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:26996481G>A	ENST00000380055.5	-	4	722	c.612C>T	c.(610-612)acC>acT	p.T204T	IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	204	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AGCTACACATGGTGATGTTCT	0.318																																																	0													86	79	81					9																	26996481		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.612C>T	9.37:g.26996481G>A			A0AV00|B9EG91	Silent	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T204	ENST00000380055.5	37	c.612	CCDS6518.1	9																																																																																			LRRC19	-	smart_Cys-rich_flank_reg_C	ENSG00000184434		0.318	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC19	HGNC	protein_coding	OTTHUMT00000051961.2	-	0	75	0	G	NM_022901		26996481	-1	tier1	-	no_errors	ENST00000380055	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.896	A	A	26996481	G	A	26996481	2	1	92	1	0	0	0	0	0	0	0	1	9010	1335	47	3		3	LRRC19	9	26996481	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		26996481	114216950	111	26686											
UBAP1	51271	genome.wustl.edu	37	chr9	34250735	34250735	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaagaggctctggaaaTgcaccagtgttcagaagaaa	15	7	13	6	0	2	3	1	0	1	3	2	5	2	5	1	3	1	3	1	3	4	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:34250735T>C	ENST00000297661.4	+	6	1581	c.1346T>C	c.(1345-1347)aTg>aCg	p.M449T	UBAP1_ENST00000379186.4_Missense_Mutation_p.M388T|UBAP1_ENST00000543944.1_Missense_Mutation_p.M485T|UBAP1_ENST00000545103.1_Missense_Mutation_p.M513T|UBAP1_ENST00000359544.2_Missense_Mutation_p.M449T|UBAP1_ENST00000536252.1_Missense_Mutation_p.M449T|UBAP1_ENST00000540348.1_Missense_Mutation_p.M449T	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	449					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GCTCTGGAAATGCACCAGTGT	0.473																																					NSCLC(109;1074 1634 14978 20375 39620)												0													104	97	100					9																	34250735		2203	4300	6503	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"ubiquitin associated protein"	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.1346T>C	9.37:g.34250735T>C	ENSP00000297661:p.Met449Thr		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.M513T	ENST00000297661.4	37	c.1538	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273767	0.59649	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.51071	0.73;0.72;0.76;0.76;0.76;1.05;0.76	6.17	6.17	0.99709	.	0.039530	0.85682	D	0.000000	T	0.43831	0.1265	L	0.46157	1.445	0.80722	D	1	P;B;P;P	0.42692	0.787;0.017;0.675;0.675	B;B;B;B	0.39258	0.295;0.011;0.295;0.295	T	0.30208	-0.9986	10	0.30854	T	0.27	-4.5317	16.8222	0.85835	0.0:0.0:0.0:1.0	.	513;485;513;449	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	T	513;485;449;449;449;388;449	ENSP00000441024:M513T;ENSP00000439806:M485T;ENSP00000440456:M449T;ENSP00000439976:M449T;ENSP00000297661:M449T;ENSP00000368484:M388T;ENSP00000352541:M449T	ENSP00000297661:M449T	M	+	2	0	UBAP1	34240735	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.741000	0.68638	2.371000	0.80710	0.533000	0.62120	ATG	UBAP1	-	superfamily_UBA-like	ENSG00000165006		0.473	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1		0	81	0	T			34250735	1			no_errors	ENST00000545103	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	C	C	34250735	T	C	34250735	3	2	92	1	0	0	0	0	1	0	0	0	16885	1464	51	4	1601	4	UBAP1	9	34250735	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	7254254	34250735	106962696	112	26687											
ZBTB5	9925	genome.wustl.edu	37	chr9	37442366	37442366	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagctggatcatgttcatGgtctgatctccttctgccac	6	14	8	13	0	5	1	2	1	3	0	7	2	6	2	3	2	2	2	3	2	0	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:37442366G>T	ENST00000307750.4	-	2	371	c.183C>A	c.(181-183)acC>acA	p.T61T		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	61	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCATGTTCATGGTCTGATCTC	0.542																																																	0													202	154	171					9																	37442366		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002352	CCDS6610.1	9p13.1	2013-01-09			ENSG00000168795	ENSG00000168795		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	23836	protein-coding gene	gene with protein product						9205841	Standard	NM_014872		Approved	KIAA0354	uc003zzx.3	O15062	OTTHUMG00000019918	ENST00000307750.4:c.183C>A	9.37:g.37442366G>T				Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.T61	ENST00000307750.4	37	c.183	CCDS6610.1	9																																																																																			ZBTB5	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000168795		0.542	ZBTB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB5	HGNC	protein_coding	OTTHUMT00000052462.1	-	0	30	0	G	NM_014872		37442366	-1	tier1	-	no_errors	ENST00000307750	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T	T	37442366	G	T	37442366	2	4	92	1	0	0	0	0	0	0	0	1	17599	1335	47	3		3	ZBTB5	9	37442366	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	3191631	37442366	103771065	113	26688											
KIAA1529	100499483	genome.wustl.edu	37	chr9	100077199	100077199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctcatgcggcccgaaGtgtacaggctgataaatgaa	12	8	10	11	2	1	2	1	2	0	0	1	3	1	2	3	2	3	2	3	2	6	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:100077199G>T	ENST00000357054.1	+	22	2250	c.1315G>T	c.(1315-1317)Gtg>Ttg	p.V439L	CCDC180_ENST00000395220.1_Missense_Mutation_p.V439L|CCDC180_ENST00000375202.2_Missense_Mutation_p.V300L|CCDC180_ENST00000411667.2_Missense_Mutation_p.V297L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.V300L|CCDC180_ENST00000460482.2_3'UTR			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	439						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GCGGCCCGAAGTGTACAGGCT	0.502																																																	0													83	79	80					9																	100077199		2203	4300	6503	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1315G>T	9.37:g.100077199G>T	ENSP00000349562:p.Val439Leu		Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.V300L	ENST00000357054.1	37	c.898		9	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073556	0.36566	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42	5.85	4.94	0.65067	.	0.255709	0.31566	N	0.007440	T	0.51227	0.1662	M	0.77103	2.36	0.26655	N	0.972017	D;D;D;D	0.89917	1.0;0.99;0.999;0.99	D;P;D;D	0.80764	0.994;0.87;0.938;0.909	T	0.43988	-0.9357	10	0.18276	T	0.48	-26.5272	11.5058	0.50466	0.086:0.0:0.914:0.0	.	297;439;300;439	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	L	439;439;300;297;323;300	ENSP00000349562:V439L;ENSP00000378646:V439L;ENSP00000364348:V300L;ENSP00000414000:V297L;ENSP00000434727:V300L	ENSP00000349562:V439L	V	+	1	0	C9orf174	99117020	0.993000	0.37304	0.925000	0.36789	0.021000	0.10359	1.996000	0.40776	2.941000	0.99782	0.655000	0.94253	GTG	CCDC180	-	NULL	ENSG00000197816		0.502	CCDC180-201	KNOWN	basic	protein_coding	CCDC180	HGNC	protein_coding		-	0	46	0	G	NM_020893		100077199	1	tier1	-	no_errors	ENST00000375202	ensembl	human	known	74_37	missense	7.69	47	4	SNP	0.726	T	T	100077199	G	T	100077199	3	4	92	1	0	0	0	0	1	0	0	0	8267	1029	36	3	1357	3	KIAA1529	9	100077199	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	62634833	100077199	41136232	114	26689											
GABBR2	9568	genome.wustl.edu	37	chr9	101304292	101304292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagggtattttttcttatCggctagaacaggcgtggttg	9	15	12	5	2	1	1	0	0	1	1	2	1	1	1	0	4	1	3	0	4	5	8			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:101304292C>T	ENST00000259455.2	-	3	952	c.493G>A	c.(493-495)Gat>Aat	p.D165N	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	165					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTTTCTTATCGGCTAGAACA	0.468																																																	0													69	63	65					9																	101304292		2203	4300	6503	SO:0001583	missense	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4507	protein-coding gene	gene with protein product		607340	"G protein-coupled receptor 51"	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.493G>A	9.37:g.101304292C>T	ENSP00000259455:p.Asp165Asn		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.D165N	ENST00000259455.2	37	c.493	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004770	0.35320	.	.	ENSG00000136928	ENST00000259455	T	0.28069	1.63	5.39	5.39	0.77823	Extracellular ligand-binding receptor (1);	0.052758	0.64402	D	0.000001	T	0.38585	0.1046	N	0.20304	0.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.08785	-1.0705	10	0.12766	T	0.61	.	16.6427	0.85130	0.0:1.0:0.0:0.0	.	165	O75899	GABR2_HUMAN	N	165	ENSP00000259455:D165N	ENSP00000259455:D165N	D	-	1	0	GABBR2	100344113	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.703000	0.84585	2.538000	0.85594	0.655000	0.94253	GAT	GABBR2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000136928		0.468	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	-	0	60	0	C			101304292	-1	tier1	-	no_errors	ENST00000259455	ensembl	human	known	74_37	missense	28.12	46	18	SNP	1.000	T	T	101304292	C	T	101304292	3	4	92	1	0	0	0	0	1	0	0	0	6180	884	31	1	2400	1	GABBR2	9	101304292	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1227093	101304292	39909139	115	26690											
OR13C4	138804	genome.wustl.edu	37	chr9	107289070	107289070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagaagtcagcagtacatAcaccaccttgttcatgatga	14	10	7	10	0	2	3	2	2	0	1	2	3	2	3	2	0	4	3	2	0	4	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:107289070A>G	ENST00000277216.3	-	1	420	c.421T>C	c.(421-423)Tat>Cat	p.Y141H		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AGCAGTACATACACCACCTTG	0.448																																																	0													145	124	131					9																	107289070		2203	4300	6503	SO:0001583	missense	0				CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"GPCR / Class A : Olfactory receptors"	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.421T>C	9.37:g.107289070A>G	ENSP00000277216:p.Tyr141His		Q6IF51|Q96R41	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y141H	ENST00000277216.3	37	c.421	CCDS35088.1	9	.	.	.	.	.	.	.	.	.	.	A	8.690	0.907205	0.17833	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.00107	8.72	4.02	2.77	0.32553	GPCR, rhodopsin-like superfamily (1);	0.172233	0.27710	U	0.018177	T	0.00384	0.0012	M	0.79123	2.44	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.39542	-0.9609	10	0.87932	D	0	.	8.7588	0.34661	0.8104:0.1896:0.0:0.0	.	141	Q8NGS5	O13C4_HUMAN	H	141;170	ENSP00000277216:Y141H	ENSP00000277216:Y141H	Y	-	1	0	OR13C4	106328891	0.027000	0.19231	0.066000	0.19879	0.044000	0.14063	2.614000	0.46359	1.798000	0.52647	0.477000	0.44152	TAT	OR13C4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000148136		0.448	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C4	HGNC	protein_coding	OTTHUMT00000053478.1	-	0	40	0	A			107289070	-1	tier1	-	no_errors	ENST00000277216	ensembl	human	known	74_37	missense	35.48	40	22	SNP	0.000	G	G	107289070	A	G	107289070	3	3	92	1	0	0	0	0	1	0	0	0	10975	391	14	4	537	4	OR13C4	9	107289070	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	5984778	107289070	33924361	116	26691											
GPR21	2844	genome.wustl.edu	37	chr9	125797678	125797678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgttggaaagctccaCtggccacagcaaccgcttcg	8	10	9	14	2	1	0	0	0	1	0	3	1	2	1	3	2	3	4	3	2	2	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:125797678C>T	ENST00000373642.1	+	1	873	c.833C>T	c.(832-834)aCt>aTt	p.T278I	RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373647.4_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	278					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GAAAGCTCCACTGGCCACAGC	0.438																																																	0													136	119	125					9																	125797678		2203	4300	6503	SO:0001583	missense	0			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"GPCR / Class A : Orphans"	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.833C>T	9.37:g.125797678C>T	ENSP00000362746:p.Thr278Ile		B2R8W9|Q6NXU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T278I	ENST00000373642.1	37	c.833	CCDS6849.1	9	.	.	.	.	.	.	.	.	.	.	C	5.571	0.290168	0.10567	.	.	ENSG00000188394	ENST00000373642	T	0.71934	-0.61	5.93	5.93	0.95920	GPCR, rhodopsin-like superfamily (1);	0.845492	0.10331	U	0.687536	T	0.62865	0.2463	L	0.34521	1.04	0.80722	D	1	B	0.26258	0.145	B	0.27380	0.079	T	0.50448	-0.8827	10	0.22109	T	0.4	-8.9307	14.196	0.65672	0.2481:0.7518:0.0:0.0	.	278	Q99679	GPR21_HUMAN	I	278	ENSP00000362746:T278I	ENSP00000362746:T278I	T	+	2	0	GPR21	124837499	0.089000	0.21612	1.000000	0.80357	0.929000	0.56500	1.806000	0.38892	2.814000	0.96858	0.591000	0.81541	ACT	GPR21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188394		0.438	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1	-	0	69	0	C	NM_005294		125797678	1	tier1	-	no_errors	ENST00000373642	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.869	T	T	125797678	C	T	125797678	3	4	92	1	0	0	0	0	1	0	0	0	6707	565	20	3	835	3	GPR21	9	125797678	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	18508608	125797678	15415753	117	26692											
LRRC8A	56262	genome.wustl.edu	37	chr9	131670056	131670056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgaccgtcagtgaggacGtggaggccaccgtgcccatg	8	6	14	13	4	1	1	1	1	0	0	2	4	1	3	4	3	1	0	4	3	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:131670056G>A	ENST00000259324.5	+	3	1136	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.V205M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.V205M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	205					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CAGTGAGGACGTGGAGGCCAC	0.622																																																	0													57	50	53					9																	131670056		2203	4300	6503	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.613G>A	9.37:g.131670056G>A	ENSP00000259324:p.Val205Met		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V205M	ENST00000259324.5	37	c.613	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874440	0.51695	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.28666	1.6;1.6;1.6	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	P	0.52856	0.711	T	0.03922	-1.0992	10	0.34782	T	0.22	.	17.8448	0.88727	0.0:0.0:1.0:0.0	.	205	Q8IWT6	LRC8A_HUMAN	M	205	ENSP00000361682:V205M;ENSP00000361680:V205M;ENSP00000259324:V205M	ENSP00000259324:V205M	V	+	1	0	LRRC8A	130709877	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.869000	0.99810	2.460000	0.83146	0.563000	0.77884	GTG	LRRC8A	-	NULL	ENSG00000136802		0.622	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	-	0	39	0	G	NM_019594		131670056	1	tier1	-	no_errors	ENST00000259324	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A	A	131670056	G	A	131670056	3	1	92	1	0	0	0	0	1	0	0	0	9056	1145	40	1	615	1	LRRC8A	9	131670056	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	5872378	131670056	9543375	118	26693											
ABCA2	20	genome.wustl.edu	37	chr9	139903009	139903009	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagaggggactgcagtgcGgatggcggctccgtctcctg	5	7	17	12	4	1	1	0	0	1	1	3	4	2	3	3	5	2	2	3	5	0	0	rs376059407		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr9:139903009G>A	ENST00000371605.3	-	47	7278	c.7131C>T	c.(7129-7131)tcC>tcT	p.S2377S	ABCA2_ENST00000265662.5_Silent_p.S2378S|ABCA2_ENST00000341511.6_Silent_p.S2378S			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2377					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACTGCAGTGCGGATGGCGGCT	0.682																																																	0													19	23	22					9																	139903009		2073	4192	6265	SO:0001819	synonymous_variant	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"ATP binding cassette transporters / subfamily A"	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.7131C>T	9.37:g.139903009G>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S2378	ENST00000371605.3	37	c.7134		9																																																																																			ABCA2	-	NULL	ENSG00000107331		0.682	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0	80	0	G	NM_001606		139903009	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	silent	8.51	86	8	SNP	0.000	A	A	139903009	G	A	139903009	2	1	92	1	0	0	0	0	0	0	0	1	32	1103	39	1		1	ABCA2	9	139903009	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	8232953	139903009	1310422	119	26694											
CCDC3	83643	genome.wustl.edu	37	chr10	12940592	12940592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggagctgccggttgcGcttctccagggtggccactt	3	10	13	15	3	1	0	0	0	1	0	3	1	2	1	4	4	3	3	4	4	0	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr10:12940592G>T	ENST00000378825.3	-	3	763	c.637C>A	c.(637-639)Cgc>Agc	p.R213S	CCDC3_ENST00000378839.1_Missense_Mutation_p.R88S	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	213						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGCCGGTTGCGCTTCTCCAGG	0.607																																																	0													78	72	74					10																	12940592		2203	4300	6503	SO:0001583	missense	0			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.637C>A	10.37:g.12940592G>T	ENSP00000368102:p.Arg213Ser		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.R213S	ENST00000378825.3	37	c.637	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889344	0.72524	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	T	0.18016	2.24	5.42	4.51	0.55191	.	0.060742	0.64402	D	0.000010	T	0.24736	0.0600	L	0.57536	1.79	0.33812	D	0.627959	P	0.49253	0.921	P	0.46275	0.51	T	0.43196	-0.9406	10	0.59425	D	0.04	-22.2928	14.6982	0.69136	0.0:0.0:0.8541:0.1458	.	213	Q9BQI4	CCDC3_HUMAN	S	88;213	ENSP00000368116:R88S	ENSP00000368102:R213S	R	-	1	0	CCDC3	12980598	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	2.560000	0.45896	1.282000	0.44496	0.561000	0.74099	CGC	CCDC3	-	NULL	ENSG00000151468		0.607	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	-	0	44	0	G	NM_031455		12940592	-1	tier1	-	no_errors	ENST00000378825	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.997	T	T	12940592	G	T	12940592	3	4	92	1	0	0	0	0	1	0	0	0	2811	1087	38	2	179	2	CCDC3	10	12940592	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		12940592	122594155	120	26695											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24886431	24886431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagtgtgggctttgagtCtttggctctgatttagcacc	6	14	14	7	0	2	3	0	2	2	1	2	4	2	3	1	3	1	3	1	3	1	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr10:24886431C>A	ENST00000396432.2	-	16	3765	c.3279G>T	c.(3277-3279)aaG>aaT	p.K1093N	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.K880N	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1092	Interaction with ARF1 and ARF6.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGCTTTGAGTCTTTGGCTCTG	0.398																																																	0													172	152	159					10																	24886431		2203	4300	6503	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3279G>T	10.37:g.24886431C>A	ENSP00000379709:p.Lys1093Asn		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.K1093N	ENST00000396432.2	37	c.3279	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	16.21	3.057828	0.55325	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003	T;T;T;T	0.52057	2.65;2.78;0.69;0.68	6.17	5.1	0.69264	.	0.198634	0.52532	D	0.000063	T	0.51075	0.1653	L	0.38838	1.175	0.39561	D	0.969128	D;P	0.56287	0.975;0.927	P;P	0.56216	0.794;0.628	T	0.39078	-0.9631	10	0.31617	T	0.26	.	14.1271	0.65228	0.0:0.8798:0.0:0.1202	.	1083;1092	F8W9U9;Q5T5U3	.;RHG21_HUMAN	N	1093;880;1083;1093	ENSP00000379709:K1093N;ENSP00000365604:K880N;ENSP00000365592:K1083N;ENSP00000405018:K1093N	ENSP00000365604:K880N	K	-	3	2	ARHGAP21	24926437	0.996000	0.38824	0.999000	0.59377	0.998000	0.95712	0.995000	0.29706	2.941000	0.99782	0.655000	0.94253	AAG	ARHGAP21	-	NULL	ENSG00000107863		0.398	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	95	0	C	NM_020824		24886431	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	20.48	66	17	SNP	0.593	A	A	24886431	C	A	24886431	3	1	92	1	0	0	0	0	1	0	0	0	871	912	32	3	2641	3	ARHGAP21	10	24886431	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	11945839	24886431	110648316	121	26696											
PDSS1	23590	genome.wustl.edu	37	chr10	26986739	26986740	+	Missense_Mutation	DNP	GC	GC	TT																															ggccgtgcgggaccgttgggGccgagcgccgctgccgaagt																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr10:26986739_26986740GC>TT	ENST00000376215.5	+	1	152_153	c.99_100GC>TT	c.(97-102)ggGCcg>ggTTcg	p.P34S	PDSS1_ENST00000376203.5_Missense_Mutation_p.P34S	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	34					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GACCGTTGGGGCCGAGCGCCGC	0.777																																																	0																																										SO:0001583	missense	0			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"coenzyme Q1 homolog (yeast)"	607429	"trans-prenyltransferase"	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	Exception_encountered	10.37:g.26986739_26986740delinsTT	ENSP00000365388:p.Pro34Ser		Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Silent|Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.G33|p.P34S	ENST00000376215.5	37	c.99|c.100	CCDS31168.1	10																																																																																			PDSS1	-	NULL	ENSG00000148459		0.777	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS1	HGNC	protein_coding	OTTHUMT00000047276.1		0	22	0	G|C			26986739|26986740	1			no_errors	ENST00000376215	ensembl	human	known	74_37	silent|missense	28.57	10	4	SNP	0.000	T	TT	26986740	GC	TT	26986739	3	4	92	1	0	0	0	0	1	0	0	0	11732	1190	42	3	101	3	PDSS1	10	26986739	Missense_Mutation	DNP	GC	TCGA-L5-A8NT-01A-11D-A37C-09	2100308	26986739	108548008	122	26697											
CCAR1	55749	genome.wustl.edu	37	chr10	70482290	70482290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggaggacagaagaatcCgccatgggctactcagttta	12	10	11	8	1	1	2	1	0	0	2	2	4	2	4	2	3	1	2	2	3	4	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr10:70482290C>A	ENST00000265872.6	+	2	148	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	CCAR1_ENST00000535016.1_Missense_Mutation_p.P10Q|CCAR1_ENST00000543719.1_Missense_Mutation_p.P10Q	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	10					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CAGAAGAATCCGCCATGGGCT	0.418																																																	0													121	130	127					10																	70482290		2203	4300	6503	SO:0001583	missense	0			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.29C>A	10.37:g.70482290C>A	ENSP00000265872:p.Pro10Gln		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom	p.P10Q	ENST00000265872.6	37	c.29	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035445	0.75617	.	.	ENSG00000060339	ENST00000536391;ENST00000265872;ENST00000535016;ENST00000538031;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000494903	T;T;T;T;T	0.67698	0.36;-0.04;-0.04;0.11;-0.28	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	L	0.29908	0.895	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.995	T	0.77376	-0.2611	10	0.87932	D	0	-8.4426	19.6915	0.96002	0.0:1.0:0.0:0.0	.	10;10	Q8IX12-2;Q8IX12	.;CCAR1_HUMAN	Q	10;10;10;10;10;10;10;69	ENSP00000265872:P10Q;ENSP00000441820:P10Q;ENSP00000445254:P10Q;ENSP00000439252:P10Q;ENSP00000438610:P10Q	ENSP00000265872:P10Q	P	+	2	0	CCAR1	70152296	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.205000	0.72148	2.824000	0.97209	0.655000	0.94253	CCG	CCAR1	-	NULL	ENSG00000060339		0.418	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	-	0	73	0	C	NM_018237		70482290	1	tier1	-	no_errors	ENST00000265872	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A	A	70482290	C	A	70482290	3	1	92	1	0	0	0	0	1	0	0	0	2737	652	23	2	31	2	CCAR1	10	70482290	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	43495551	70482290	65052457	123	26698											
LGI1	9211	genome.wustl.edu	37	chr10	95518113	95518113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttcctcctgatgttatctCattgtaaggcccgtaagcat	8	14	8	11	2	1	1	1	1	1	0	4	1	3	1	3	1	1	5	3	1	3	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr10:95518113C>T	ENST00000371418.4	+	1	472	c.212C>T	c.(211-213)tCa>tTa	p.S71L	LGI1_ENST00000542308.1_Missense_Mutation_p.S71L|LGI1_ENST00000371413.3_Missense_Mutation_p.S71L|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	71	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GATGTTATCTCATTGTAAGGC	0.438																																																	0													125	122	123					10																	95518113		2203	4300	6503	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"epilepsy, partial"	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.212C>T	10.37:g.95518113C>T	ENSP00000360472:p.Ser71Leu		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.S71L	ENST00000371418.4	37	c.212	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190131	0.78789	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	T;D;D	0.89939	0.32;-2.59;-2.59	5.11	5.11	0.69529	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94699	0.8290	M	0.81497	2.545	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.015	D;D;B	0.83275	0.996;0.986;0.114	D	0.94657	0.7844	10	0.56958	D	0.05	-7.8516	18.7464	0.91794	0.0:1.0:0.0:0.0	.	71;71;71	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	L	71	ENSP00000440763:S71L;ENSP00000360472:S71L;ENSP00000360467:S71L	ENSP00000360467:S71L	S	+	2	0	LGI1	95508103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.896000	0.75665	2.673000	0.90976	0.555000	0.69702	TCA	LGI1	-	NULL	ENSG00000108231		0.438	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1		0	82	0	C	NM_005097		95518113	1			no_errors	ENST00000371418	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	95518113	C	T	95518113	3	4	92	1	0	0	0	0	1	0	0	0	8780	838	29	3	214	3	LGI1	10	95518113	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	25035823	95518113	40016634	124	26699											
HPSE2	60495	genome.wustl.edu	37	chr10	100503680	100503680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttgtactttttgctggcGctgtacttcaacagactcag	8	15	9	9	1	2	1	2	0	0	1	2	1	2	1	0	1	4	5	0	1	3	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr10:100503680G>A	ENST00000370552.3	-	4	803	c.744C>T	c.(742-744)agC>agT	p.S248S	HPSE2_ENST00000370549.1_Intron|HPSE2_ENST00000370546.1_Silent_p.S248S|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	248					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTTTGCTGGCGCTGTACTTCA	0.418																																																	0													134	128	130					10																	100503680		2203	4300	6503	SO:0001819	synonymous_variant	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"urofacial syndrome", "heparanase 2"	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.744C>T	10.37:g.100503680G>A			Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.S248	ENST00000370552.3	37	c.744	CCDS7477.1	10																																																																																			HPSE2	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.418	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	-	0	65	0	G	NM_021828		100503680	-1	tier1	-	no_errors	ENST00000370552	ensembl	human	known	74_37	silent	34.62	51	27	SNP	0.697	A	A	100503680	G	A	100503680	2	1	92	1	0	0	0	0	0	0	0	1	7372	1078	38	1		1	HPSE2	10	100503680	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	4985567	100503680	35031067	125	26700											
DHX32	55760	genome.wustl.edu	37	chr10	127555659	127555659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccgccacccgcagggcgaGctggaccacagtctgcttgt	7	7	12	15	3	1	0	0	0	1	0	2	2	2	1	4	2	2	3	4	2	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr10:127555659G>C	ENST00000284690.3	-	2	866	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V	DHX32_ENST00000284688.6_Missense_Mutation_p.L126V	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	126	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CGCAGGGCGAGCTGGACCACA	0.527																																																	0													126	105	112					10																	127555659		2203	4300	6503	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.376C>G	10.37:g.127555659G>C	ENSP00000284690:p.Leu126Val		A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.L126V	ENST00000284690.3	37	c.376	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808723	0.31961	.	.	ENSG00000089876	ENST00000284690;ENST00000284688	T;T	0.30714	1.52;1.52	5.53	5.53	0.82687	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	N	0.21373	0.66	0.36595	D	0.87432	D	0.76494	0.999	D	0.80764	0.994	T	0.51710	-0.8671	10	0.87932	D	0	-26.0064	18.6399	0.91392	0.0:0.0:1.0:0.0	.	126	Q7L7V1	DHX32_HUMAN	V	126	ENSP00000284690:L126V;ENSP00000284688:L126V	ENSP00000284688:L126V	L	-	1	0	DHX32	127545649	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.423000	0.66458	2.871000	0.98454	0.655000	0.94253	CTC	DHX32	-	superfamily_P-loop_NTPase,pfscan_Helicase_ATP-bd	ENSG00000089876		0.527	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	HGNC	protein_coding	OTTHUMT00000050945.2		0	72	0	G	NM_018180		127555659	-1			no_errors	ENST00000284690	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	C	C	127555659	G	C	127555659	3	2	92	1	0	0	0	0	1	0	0	0	4519	971	34	5	1895	5	DHX32	10	127555659	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	27051979	127555659	7979088	126	26701											
PDE3B	5140	genome.wustl.edu	37	chr11	14880604	14880604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggcagttttatacaatGacagatctgttctggaaaat	13	15	8	5	0	2	2	0	1	2	1	2	3	2	3	0	2	1	3	0	2	6	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:14880604G>T	ENST00000282096.4	+	13	2889	c.2536G>T	c.(2536-2538)Gac>Tac	p.D846Y	PDE3B_ENST00000455098.2_Missense_Mutation_p.D795Y	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	846	Catalytic. {ECO:0000250}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	TTTATACAATGACAGATCTGT	0.333																																																	0													119	114	116					11																	14880604		2200	4294	6494	SO:0001583	missense	0			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"Phosphodiesterases"	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.2536G>T	11.37:g.14880604G>T	ENSP00000282096:p.Asp846Tyr		B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.D846Y	ENST00000282096.4	37	c.2536	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465891	0.84425	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	D;D	0.82081	-1.57;-1.57	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.94076	0.8101	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95135	0.8258	10	0.87932	D	0	.	19.7714	0.96367	0.0:0.0:1.0:0.0	.	795;846	B7ZM37;Q13370	.;PDE3B_HUMAN	Y	846;795	ENSP00000282096:D846Y;ENSP00000388644:D795Y	ENSP00000282096:D846Y	D	+	1	0	PDE3B	14837180	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.476000	0.97823	2.666000	0.90696	0.655000	0.94253	GAC	PDE3B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000152270		0.333	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	HGNC	protein_coding	OTTHUMT00000386974.1	-	0	76	0	G	NM_000922		14880604	1	tier1	-	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	35.44	51	28	SNP	1.000	T	T	14880604	G	T	14880604	3	4	92	1	0	0	0	0	1	0	0	0	11677	1290	45	3	2586	3	PDE3B	11	14880604	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		14880604	120125912	127	26702											
DNAJC24	120526	genome.wustl.edu	37	chr11	31436406	31436406	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccagcaggaacagtggagGaatgtgtacagaagttcatc	14	8	12	7	0	1	1	1	0	0	1	2	4	1	4	1	3	4	3	1	3	5	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:31436406G>T	ENST00000465995.1	+	3	266	c.160G>T	c.(160-162)Gaa>Taa	p.E54*	DNAJC24_ENST00000536040.1_Nonsense_Mutation_p.E53*	NM_181706.4	NP_859057.4	Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	53	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone-mediated protein folding (GO:0061077)|oxidation-reduction process (GO:0055114)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of ATPase activity (GO:0032781)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATPase activator activity (GO:0001671)|ferrous iron binding (GO:0008198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						AACAGTGGAGGAATGTGTACA	0.448																																																	0													102	100	101					11																	31436406		1944	4157	6101	SO:0001587	stop_gained	0			AL833128	CCDS7873.2	11p14.1	2011-09-02	2008-07-03	2008-07-03	ENSG00000170946	ENSG00000170946		"Heat shock proteins / DNAJ (HSP40)"	26979	protein-coding gene	gene with protein product		611072	"zinc finger, CSL-type containing 3", "DPH4 homolog (JJJ3, S. cerevisiae)", "DPH4, JJJ3 homolog (S. cerevisiae)"	ZCSL3, DPH4		15485916	Standard	NM_181706		Approved	JJJ3	uc001msx.3	Q6P3W2	OTTHUMG00000133712	ENST00000465995.1:c.160G>T	11.37:g.31436406G>T	ENSP00000417548:p.Glu54*		A8K0V0|B1ALC1|I6L9B4	Nonsense_Mutation	SNP	pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain	p.E54*	ENST00000465995.1	37	c.160	CCDS7873.2	11	.	.	.	.	.	.	.	.	.	.	G	6.080	0.383088	0.11524	.	.	ENSG00000170946	ENST00000465995;ENST00000536040	.	.	.	6.17	4.22	0.49857	.	0.240776	0.43579	D	0.000548	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	11.4471	0.50129	0.0704:0.1239:0.8057:0.0	.	.	.	.	X	54;53	.	ENSP00000417548:E54X	E	+	1	0	DNAJC24	31392982	1.000000	0.71417	0.924000	0.36721	0.000000	0.00434	3.769000	0.55303	0.850000	0.35239	-1.058000	0.02302	GAA	DNAJC24	-	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	ENSG00000170946		0.448	DNAJC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC24	HGNC	protein_coding	OTTHUMT00000258011.3	-	0	63	0	G	NM_181706		31436406	1	tier1	-	no_errors	ENST00000465995	ensembl	human	known	74_37	nonsense	30.77	63	28	SNP	0.997	T	T	31436406	G	T	31436406	4	4	92	1	0	0	0	0	0	1	0	0	4656	1175	41	3	166	3	DNAJC24	11	31436406	Nonsense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	16555802	31436406	103570110	128	26703											
ELP4	26610	genome.wustl.edu	37	chr11	31616371	31616371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggaatttgatgaagatGtatacaatcataaaacacca	21	9	6	5	0	1	3	1	2	0	1	1	4	1	4	1	1	2	1	1	1	9	4	rs144056743		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:31616371G>A	ENST00000350638.5	+	4	471	c.436G>A	c.(436-438)Gta>Ata	p.V146I	ELP4_ENST00000395934.2_Missense_Mutation_p.V146I|ELP4_ENST00000379163.5_Missense_Mutation_p.V146I	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	146					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TGATGAAGATGTATACAATCA	0.303																																																	0													74	70	71					11																	31616371		1809	4068	5877	SO:0001583	missense	0			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"Elongator acetyltransferase complex subunits"	1171	protein-coding gene	gene with protein product		606985	"chromosome 11 open reading frame 19", "elongation protein 4 homolog (S. cerevisiae)"	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.436G>A	11.37:g.31616371G>A	ENSP00000298937:p.Val146Ile		B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase	p.V146I	ENST00000350638.5	37	c.436	CCDS7875.2	11	.	.	.	.	.	.	.	.	.	.	G	4.474	0.087763	0.08583	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.42131	0.98;0.98;0.98	4.69	-1.11	0.09840	.	1.270580	0.05188	N	0.502636	T	0.32436	0.0829	L	0.59436	1.845	0.09310	N	1	P;P;B	0.48694	0.572;0.914;0.408	B;B;B	0.35770	0.207;0.21;0.079	T	0.33085	-0.9882	10	0.37606	T	0.19	-27.3746	4.8056	0.13319	0.4356:0.0:0.423:0.1414	.	146;146;146	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	I	146	ENSP00000298937:V146I;ENSP00000368461:V146I;ENSP00000379267:V146I	ENSP00000298937:V146I	V	+	1	0	ELP4	31572947	0.000000	0.05858	0.000000	0.03702	0.276000	0.26787	-0.723000	0.04952	-0.266000	0.09339	0.460000	0.39030	GTA	ELP4	-	pfam_Elongator_complex_protein_4	ENSG00000109911		0.303	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	HGNC	protein_coding	OTTHUMT00000286640.1	-	0	62	0	G	NM_019040		31616371	1	tier1	-	no_errors	ENST00000395934	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.000	A	A	31616371	G	A	31616371	3	1	92	1	0	0	0	0	1	0	0	0	5098	1377	48	3	450	3	ELP4	11	31616371	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	179965	31616371	103390145	129	26704											
MS4A10	341116	genome.wustl.edu	37	chr11	60557950	60557950	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctccacaccagcacGagaagtcccagaagaagagc	13	4	10	14	1	0	4	0	0	0	4	3	5	3	4	4	1	2	2	4	1	3	0	rs374960907		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:60557950G>T	ENST00000308287.1	+	2	238	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	48				E -> D (in Ref. 1; BAC85498). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ACACCAGCACGAGAAGTCCCA	0.622																																																	0													82	78	80					11																	60557950		2203	4300	6503	SO:0001587	stop_gained	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.142G>T	11.37:g.60557950G>T	ENSP00000311862:p.Glu48*		B2RP45|Q96PG3	Nonsense_Mutation	SNP	pfam_CD20-like	p.E48*	ENST00000308287.1	37	c.142	CCDS7992.1	11	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452560	0.43531	.	.	ENSG00000172689	ENST00000308287	.	.	.	3.3	-0.874	0.10631	.	0.663541	0.12499	N	0.463544	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-7.6722	7.1591	0.25654	0.1987:0.1454:0.6559:0.0	.	.	.	.	X	48	.	ENSP00000311862:E48X	E	+	1	0	MS4A10	60314526	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.171000	0.03115	-0.159000	0.11021	-1.149000	0.01842	GAG	MS4A10	-	NULL	ENSG00000172689		0.622	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1		0	60	0	G	NM_206893		60557950	1			no_errors	ENST00000308287	ensembl	human	known	74_37	nonsense	6.38	44	3	SNP	0.002	T	T	60557950	G	T	60557950	4	4	92	1	0	0	0	0	0	1	0	0	9893	1059	37	2	144	2	MS4A10	11	60557950	Nonsense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	28941579	60557950	74448566	130	26705											
ASRGL1	80150	genome.wustl.edu	37	chr11	62159024	62159024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatgccgacaatgacatcgGagccgtctcaaccacagggc	11	7	10	13	3	1	1	1	1	1	0	3	3	1	2	3	2	3	0	3	2	3	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:62159024G>A	ENST00000415229.2	+	6	856	c.641G>A	c.(640-642)gGa>gAa	p.G214E	ASRGL1_ENST00000301776.5_Missense_Mutation_p.G214E|CTD-2531D15.5_ENST00000526045.1_RNA	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	214					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AATGACATCGGAGCCGTCTCA	0.488											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90	69	76					11																	62159024		2202	4299	6501	SO:0001583	missense	0				CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"asparaginase-like 1 protein"	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.641G>A	11.37:g.62159024G>A	ENSP00000400057:p.Gly214Glu	1059	B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	pfam_Peptidase_T2	p.G214E	ENST00000415229.2	37	c.641	CCDS8019.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368003	0.82463	.	.	ENSG00000162174	ENST00000415229;ENST00000301776	D;D	0.90676	-2.71;-2.71	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.97228	0.9094	H	0.98559	4.265	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98137	1.0434	10	0.49607	T	0.09	-18.8424	15.6076	0.76685	0.0:0.0:1.0:0.0	.	214	Q7L266	ASGL1_HUMAN	E	214	ENSP00000400057:G214E;ENSP00000301776:G214E	ENSP00000301776:G214E	G	+	2	0	ASRGL1	61915600	1.000000	0.71417	0.601000	0.28877	0.732000	0.41865	8.701000	0.91331	2.253000	0.74438	0.650000	0.86243	GGA	ASRGL1	-	pfam_Peptidase_T2	ENSG00000162174		0.488	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASRGL1	HGNC	protein_coding	OTTHUMT00000394865.1	-	0	30	0	G	NM_001083926		62159024	1	tier1	-	no_errors	ENST00000301776	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	A	A	62159024	G	A	62159024	3	1	92	1	0	0	0	0	1	0	0	0	1061	1174	41	3	659	3	ASRGL1	11	62159024	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1601074	62159024	72847492	131	26706											
SLC22A10	387775	genome.wustl.edu	37	chr11	63066469	63066469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcacttagaaaagttgCacgcacaaatggaataaaga	20	6	9	6	1	0	2	0	0	0	2	0	3	0	3	0	2	1	4	0	2	8	3	rs201468685	byFrequency	TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:63066469C>T	ENST00000332793.6	+	5	910	c.908C>T	c.(907-909)gCa>gTa	p.A303V	SLC22A10_ENST00000544661.1_Missense_Mutation_p.A148V|SLC22A10_ENST00000535888.1_Missense_Mutation_p.A93V|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.A143V	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	303						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	AGAAAAGTTGCACGCACAAAT	0.433													C|||	4	0.000798722	0	0.0014	5008	,	,		19786	0		0	False		,,,				2504	0.0031																0													100	96	97					11																	63066469		2018	4194	6212	SO:0001583	missense	0			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"Solute carriers"	18057	protein-coding gene	gene with protein product		607580	"solute carrier family 22 (organic anion/cation transporter), member 10"			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.908C>T	11.37:g.63066469C>T	ENSP00000327569:p.Ala303Val		Q68CJ0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A303V	ENST00000332793.6	37	c.908	CCDS41661.1	11	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.1	4.249529	0.80024	.	.	ENSG00000184999	ENST00000535888;ENST00000544661;ENST00000332793;ENST00000526800	T;T;T;T	0.74947	0.31;0.31;0.31;-0.89	3.46	3.46	0.39613	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.065642	0.64402	U	0.000014	D	0.89371	0.6696	H	0.96269	3.795	0.30264	N	0.792914	D;D	0.89917	0.999;1.0	D;D	0.78314	0.986;0.991	D	0.87720	0.2572	10	0.72032	D	0.01	.	12.6217	0.56607	0.0:1.0:0.0:0.0	.	143;303	E9PJB1;Q63ZE4	.;S22AA_HUMAN	V	93;148;303;143	ENSP00000444602:A93V;ENSP00000445667:A148V;ENSP00000327569:A303V;ENSP00000433908:A143V	ENSP00000327569:A303V	A	+	2	0	SLC22A10	62823045	0.991000	0.36638	0.356000	0.25785	0.440000	0.31957	3.981000	0.56902	1.811000	0.52892	0.454000	0.30748	GCA	SLC22A10	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000184999		0.433	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3		0	79	0	C	NM_001039752		63066469	1			no_errors	ENST00000332793	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.992	T	T	63066469	C	T	63066469	3	4	92	1	0	0	0	0	1	0	0	0	14486	710	25	3	926	3	SLC22A10	11	63066469	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	907445	63066469	71940047	132	26707											
EHBP1L1	254102	genome.wustl.edu	37	chr11	65343817	65343817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcgtgggcaagcgggCggccaagttccagttcgtgg	6	6	18	11	5	0	0	0	0	0	0	2	0	1	0	2	4	2	4	2	4	2	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:65343817C>T	ENST00000309295.4	+	1	309	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	15						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCAAGCGGGCGGCCAAGTTC	0.697																																																	0													29	34	32					11																	65343817		1927	4125	6052	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.44C>T	11.37:g.65343817C>T	ENSP00000312671:p.Ala15Val		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A15V	ENST00000309295.4	37	c.44	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.508266	0.96386	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.48201	0.82;0.82	3.71	3.71	0.42584	.	0.000000	0.56097	D	0.000022	T	0.70046	0.3179	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76318	-0.3003	10	0.87932	D	0	.	12.9803	0.58559	0.0:1.0:0.0:0.0	.	15	Q8N3D4	EH1L1_HUMAN	V	15	ENSP00000312671:A15V;ENSP00000431996:A15V	ENSP00000312671:A15V	A	+	2	0	EHBP1L1	65100393	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	4.467000	0.60155	1.631000	0.50456	0.561000	0.74099	GCG	EHBP1L1	-	NULL	ENSG00000173442		0.697	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	-	0	97	0	C	XM_170658		65343817	1	tier1	-	no_errors	ENST00000309295	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T	T	65343817	C	T	65343817	3	4	92	1	0	0	0	0	1	0	0	0	4990	768	27	1	46	1	EHBP1L1	11	65343817	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2277348	65343817	69662699	133	26708											
ANO1	55107	genome.wustl.edu	37	chr11	70028614	70028614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccctgcacaggccttcGtgatctccttcacgtctgac	5	12	8	16	2	3	2	1	2	2	0	6	2	4	2	4	1	1	1	4	1	0	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:70028614G>T	ENST00000355303.5	+	24	2715	c.2410G>T	c.(2410-2412)Gtg>Ttg	p.V804L	ANO1_ENST00000538023.1_Missense_Mutation_p.V804L|ANO1_ENST00000531349.1_Missense_Mutation_p.V513L|ANO1_ENST00000530676.1_Missense_Mutation_p.V658L|ANO1_ENST00000398543.2_Missense_Mutation_p.V658L|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	804					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACAGGCCTTCGTGATCTCCTT	0.617																																																	0													60	65	63					11																	70028614		2068	4176	6244	SO:0001583	missense	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	21625	protein-coding gene	gene with protein product		610108	"oral cancer overexpressed 2", "transmembrane protein 16A"	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2410G>T	11.37:g.70028614G>T	ENSP00000347454:p.Val804Leu		A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.V804L	ENST00000355303.5	37	c.2410	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914327	0.92178	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	L	0.48260	1.515	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.77004	0.982;0.989	T	0.65220	-0.6221	9	.	.	.	.	17.3532	0.87329	0.0:0.0:1.0:0.0	.	513;804	E9PNA7;Q5XXA6	.;ANO1_HUMAN	L	804;804;658;562;658;513;131	ENSP00000347454:V804L;ENSP00000444689:V804L;ENSP00000381551:V658L;ENSP00000435797:V658L;ENSP00000432843:V513L	.	V	+	1	0	ANO1	69706262	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	9.104000	0.94239	2.176000	0.68965	0.555000	0.69702	GTG	ANO1	-	pfam_Anoctamin	ENSG00000131620		0.617	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	-	0	49	0	G	NM_018043		70028614	1	tier1	-	no_errors	ENST00000355303	ensembl	human	known	74_37	missense	63.89	13	23	SNP	1.000	T	T	70028614	G	T	70028614	3	4	92	1	0	0	0	0	1	0	0	0	695	1145	40	2	2504	2	ANO1	11	70028614	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	4684797	70028614	64977902	134	26709											
EXPH5	23086	genome.wustl.edu	37	chr11	108382592	108382592	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttcctgacaagtctgaGcaaaaaggtaaagggtcttc	12	12	9	8	0	3	2	0	2	3	0	5	2	4	2	1	2	1	2	1	2	5	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:108382592G>T	ENST00000265843.4	-	6	3752	c.3642C>A	c.(3640-3642)tgC>tgA	p.C1214*	EXPH5_ENST00000428840.1_Nonsense_Mutation_p.C1138*|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Nonsense_Mutation_p.C1207*|EXPH5_ENST00000443411.1_Nonsense_Mutation_p.C1026*	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1214					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACAAGTCTGAGCAAAAAGGTA	0.378																																																	0													101	104	103					11																	108382592		2201	4298	6499	SO:0001587	stop_gained	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"synaptotagmin-like homologue lacking C2 domains b"	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.3642C>A	11.37:g.108382592G>T	ENSP00000265843:p.Cys1214*		Q2KHM1|Q9Y4D6	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	p.C1214*	ENST00000265843.4	37	c.3642	CCDS8341.1	11	.	.	.	.	.	.	.	.	.	.	G	42	9.539050	0.99199	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	.	.	.	5.85	-2.26	0.06867	.	0.609827	0.16589	N	0.207844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.6047	6.6504	0.22959	0.3762:0.1547:0.4691:0.0	.	.	.	.	X	1214;1138;1026;1207;1138;1026	.	ENSP00000265843:C1214X	C	-	3	2	EXPH5	107887802	0.000000	0.05858	0.006000	0.13384	0.721000	0.41392	-0.512000	0.06313	-0.380000	0.07894	-0.238000	0.12139	TGC	EXPH5	-	NULL	ENSG00000110723		0.378	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1		0	76	0	G	NM_015065		108382592	-1			no_errors	ENST00000265843	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.044	T	T	108382592	G	T	108382592	4	4	92	1	0	0	0	0	0	1	0	0	5338	963	34	3	2331	3	EXPH5	11	108382592	Nonsense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	38353978	108382592	26623924	135	26710											
TMPRSS4	56649	genome.wustl.edu	37	chr11	117969749	117969749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatggagaccttcagaaaGgtggggatccccatcatcat	11	8	10	12	0	3	2	3	0	0	2	4	4	4	3	4	4	0	0	4	4	1	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:117969749G>T	ENST00000437212.3	+	3	307	c.93G>T	c.(91-93)aaG>aaT	p.K31N	TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522824.1_Missense_Mutation_p.K31N|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000534111.1_Missense_Mutation_p.K29N			Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	31					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CCTTCAGAAAGGTGGGGATCC	0.532																																																	0													216	182	193					11																	117969749		2200	4296	6496	SO:0001583	missense	0			AF179224	CCDS31684.1, CCDS44743.1, CCDS53716.1, CCDS53717.1	11q23.3	2010-04-13			ENSG00000137648	ENSG00000137648		"Serine peptidases / Transmembrane"	11878	protein-coding gene	gene with protein product	"transmembrane serine protease 3", "membrane-type serine protease 2", "type II membrane serine protease"	606565				10825129	Standard	NM_001083947		Approved	TMPRSS3, MT-SP2	uc021qrd.1	Q9NRS4	OTTHUMG00000164122	ENST00000437212.3:c.93G>T	11.37:g.117969749G>T	ENSP00000416037:p.Lys31Asn		A8MU84|B0YJB0|B7Z8C5|E7ERX8|Q5XKQ6|Q6UX37|Q9NZA5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.K31N	ENST00000437212.3	37	c.93	CCDS31684.1	11	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978737	0.34942	.	.	ENSG00000137648	ENST00000534111;ENST00000437212;ENST00000522824;ENST00000522151	D;D;D;T	0.88818	-2.42;-2.43;-2.43;0.05	4.31	2.42	0.29668	.	0.260983	0.26757	N	0.022652	D	0.86632	0.5979	M	0.62723	1.935	0.34088	D	0.66037	P;P;P	0.49783	0.799;0.883;0.928	B;B;P	0.44359	0.343;0.261;0.447	D	0.88129	0.2837	10	0.66056	D	0.02	.	8.911	0.35552	0.1925:0.0:0.8075:0.0	.	6;31;29	B7Z900;Q9NRS4;Q9NRS4-3	.;TMPS4_HUMAN;.	N	29;31;31;29	ENSP00000435184:K29N;ENSP00000416037:K31N;ENSP00000430547:K31N;ENSP00000428407:K29N	ENSP00000416037:K31N	K	+	3	2	TMPRSS4	117474959	0.998000	0.40836	0.998000	0.56505	0.466000	0.32739	0.420000	0.21263	0.543000	0.28864	0.456000	0.33151	AAG	TMPRSS4	-	NULL	ENSG00000137648		0.532	TMPRSS4-004	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS4	HGNC	protein_coding	OTTHUMT00000377328.2	-	0	57	0	G	NM_019894		117969749	1	tier1	-	no_errors	ENST00000437212	ensembl	human	known	74_37	missense	8.33	43	4	SNP	0.995	T	T	117969749	G	T	117969749	3	4	92	1	0	0	0	0	1	0	0	0	16296	991	35	3	103	3	TMPRSS4	11	117969749	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	9587157	117969749	17036767	136	26711											
SORL1	6653	genome.wustl.edu	37	chr11	121475855	121475855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaagtacagaatcttcAgtggacagctgacttctctg	12	11	9	9	0	3	2	1	1	2	1	4	3	3	3	0	1	3	3	0	1	4	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:121475855A>G	ENST00000260197.7	+	34	4814	c.4685A>G	c.(4684-4686)cAg>cGg	p.Q1562R	SORL1_ENST00000534286.1_Missense_Mutation_p.Q472R|SORL1_ENST00000527934.1_Missense_Mutation_p.Q177R|SORL1_ENST00000525532.1_Missense_Mutation_p.Q506R|SORL1_ENST00000532694.1_Missense_Mutation_p.Q408R	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1562	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGAATCTTCAGTGGACAGCT	0.453																																																	0													157	156	157					11																	121475855		2203	4299	6502	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4685A>G	11.37:g.121475855A>G	ENSP00000260197:p.Gln1562Arg		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.Q1562R	ENST00000260197.7	37	c.4685	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124747	0.56613	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.19	4.06	0.47325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	N	0.19112	0.55	0.47308	D	0.99938	B;D	0.69078	0.035;0.997	B;D	0.80764	0.038;0.994	T	0.45527	-0.9255	10	0.23302	T	0.38	.	10.5272	0.44957	0.923:0.0:0.077:0.0	.	177;1562	E9PKB0;Q92673	.;SORL_HUMAN	R	1562;506;408;472;177	ENSP00000260197:Q1562R;ENSP00000434634:Q506R;ENSP00000432131:Q408R;ENSP00000436447:Q472R;ENSP00000435405:Q177R	ENSP00000260197:Q1562R	Q	+	2	0	SORL1	120981065	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.142000	0.77339	0.827000	0.34685	0.533000	0.62120	CAG	SORL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000137642		0.453	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0	96	0	A	NM_003105		121475855	1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	G	G	121475855	A	G	121475855	3	3	92	1	0	0	0	0	1	0	0	0	14979	188	7	4	4819	4	SORL1	11	121475855	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	3506106	121475855	13530661	137	26712											
C11orf45	219833	genome.wustl.edu	37	chr11	128772514	128772514	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagcccaggcggccctctcTactatcatgggccttgcaga	7	9	11	14	1	2	1	1	0	1	1	3	1	2	1	3	3	3	2	3	3	3	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:128772514T>A	ENST00000524878.1	-	4	546	c.376A>T	c.(376-378)Aga>Tga	p.R126*	C11orf45_ENST00000530168.1_5'UTR|C11orf45_ENST00000310799.3_Nonsense_Mutation_p.R126*|KCNJ5_ENST00000338350.4_Intron|KCNJ5_ENST00000529694.1_Intron			Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	126						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		CGGCCCTCTCTACTATCATGG	0.597																																																	0													74	66	69					11																	128772514		2201	4297	6498	SO:0001587	stop_gained	0			AK125634	CCDS8478.1	11q24.3	2012-05-30			ENSG00000174370	ENSG00000174370			28584	protein-coding gene	gene with protein product							Standard	NM_001256088		Approved	MGC35558, FLJ43646	uc001qeu.3	Q8TAV5	OTTHUMG00000165796	ENST00000524878.1:c.376A>T	11.37:g.128772514T>A	ENSP00000431922:p.Arg126*		B2RAD0	Nonsense_Mutation	SNP	NULL	p.R126*	ENST00000524878.1	37	c.376	CCDS8478.1	11	.	.	.	.	.	.	.	.	.	.	T	16.06	3.015594	0.54468	.	.	ENSG00000174370	ENST00000310799;ENST00000524878	.	.	.	2.83	1.71	0.24356	.	.	.	.	.	.	.	.	.	.	.	0.28625	N	0.907977	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.4122	0.11438	0.0:0.1576:0.0:0.8424	.	.	.	.	X	126	.	ENSP00000307879:R126X	R	-	1	2	C11orf45	128277724	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.604000	0.24164	0.508000	0.28173	0.460000	0.39030	AGA	C11orf45	-	NULL	ENSG00000174370		0.597	C11orf45-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	C11orf45	HGNC	protein_coding	OTTHUMT00000386243.1	-	0	36	0	T	NM_145013		128772514	-1	tier1	-	no_errors	ENST00000310799	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.001	A	A	128772514	T	A	128772514	4	1	92	1	0	0	0	0	0	1	0	0	1647	1530	53	5	65	5	C11orf45	11	128772514	Nonsense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	7296659	128772514	6234002	138	26713											
GLB1L3	112937	genome.wustl.edu	37	chr11	134162099	134162099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgtgctgagtggccacaCcaaaggaggtacacatttag	13	8	11	9	0	0	1	0	1	0	0	0	2	0	2	2	3	2	2	2	3	3	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr11:134162099C>A	ENST00000431683.2	+	8	803	c.803C>A	c.(802-804)aCc>aAc	p.T268N	GLB1L3_ENST00000389887.5_Missense_Mutation_p.T268N	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	268					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGTGGCCACACCAAAGGAGGT	0.473																																																	0													68	66	66					11																	134162099		1970	4170	6140	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.803C>A	11.37:g.134162099C>A	ENSP00000396615:p.Thr268Asn		A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.T268N	ENST00000431683.2	37	c.803	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496512	0.44352	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97924	-4.61;-4.61	4.64	0.993	0.19825	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.94945	0.8365	L	0.29908	0.895	0.09310	N	1	P;B	0.42961	0.795;0.068	P;B	0.45712	0.491;0.145	D	0.89519	0.3777	9	0.87932	D	0	.	7.1178	0.25427	0.0:0.2819:0.0:0.7181	.	268;268	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	N	268	ENSP00000374537:T268N;ENSP00000396615:T268N	ENSP00000374537:T268N	T	+	2	0	GLB1L3	133667309	0.012000	0.17670	0.027000	0.17364	0.127000	0.20565	1.910000	0.39927	0.060000	0.16281	-0.806000	0.03193	ACC	GLB1L3	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF	ENSG00000166105		0.473	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	-	0	62	0	C	NM_138416		134162099	1	tier1	-	no_errors	ENST00000431683	ensembl	human	known	74_37	missense	54.29	15	19	SNP	0.041	A	A	134162099	C	A	134162099	3	1	92	1	0	0	0	0	1	0	0	0	6456	507	18	3	833	3	GLB1L3	11	134162099	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	5389585	134162099	844417	139	26714											
CACNA2D4	93589	genome.wustl.edu	37	chr12	1993438	1993438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatgcaatccacttcatgCggtcagcaaaagacacttct	12	10	7	12	1	3	1	2	0	1	1	4	1	4	1	1	1	4	3	1	1	3	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:1993438C>T	ENST00000382722.5	-	12	1684	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R441H|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R377H|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R377H|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R441H	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	441	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCACTTCATGCGGTCAGCAAA	0.537																																					Colon(2;101 179 21030 23310 28141)												0													67	74	72					12																	1993438		2066	4212	6278	SO:0001583	missense	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1322G>A	12.37:g.1993438C>T	ENSP00000372169:p.Arg441His		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R441H	ENST00000382722.5	37	c.1322	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626698	0.46840	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.07908	3.15	5.37	2.53	0.30540	von Willebrand factor, type A (3);	0.179561	0.56097	D	0.000028	T	0.03053	0.0090	N	0.02539	-0.55	0.80722	D	1	B	0.12630	0.006	B	0.14578	0.011	T	0.39683	-0.9602	10	0.52906	T	0.07	.	6.0262	0.19656	0.0:0.5669:0.0:0.4331	.	441	Q7Z3S7	CA2D4_HUMAN	H	377;441;441	ENSP00000372169:R441H	ENSP00000280663:R441H	R	-	2	0	CACNA2D4	1863699	0.999000	0.42202	0.964000	0.40570	0.925000	0.55904	2.705000	0.47127	1.277000	0.44412	0.603000	0.83216	CGC	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151062		0.537	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0	80	0	C			1993438	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.789	T	T	1993438	C	T	1993438	3	4	92	1	0	0	0	0	1	0	0	0	2558	768	27	1	2199	1	CACNA2D4	12	1993438	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		1993438	131858457	140	26715											
SOX5	6660	genome.wustl.edu	37	chr12	23998970	23998970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctctgcttcaaggtgtcaAcaacatcagctaaactgccc	11	10	6	14	0	4	0	3	0	1	0	5	0	5	0	2	1	6	2	2	1	5	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:23998970A>G	ENST00000451604.2	-	3	529	c.428T>C	c.(427-429)gTt>gCt	p.V143A	SOX5_ENST00000541536.1_Missense_Mutation_p.V130A|SOX5_ENST00000546136.1_Missense_Mutation_p.V130A|SOX5_ENST00000545921.1_Missense_Mutation_p.V133A|SOX5_ENST00000541847.1_Missense_Mutation_p.V133A|SOX5_ENST00000309359.1_Missense_Mutation_p.V130A|SOX5_ENST00000381381.2_Missense_Mutation_p.V130A|SOX5_ENST00000537393.1_Missense_Mutation_p.V108A|SOX5_ENST00000441133.2_Missense_Mutation_p.V108A			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	143					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V143A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAAGGTGTCAACAACATCAGC	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											131	119	123					12																	23998970		2203	4300	6503	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.428T>C	12.37:g.23998970A>G	ENSP00000398273:p.Val143Ala		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.V143A	ENST00000451604.2	37	c.428	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264197	0.80358	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	D;D;D;D;D;D;D	0.97941	-4.62;-4.62;-4.6;-4.62;-4.5;-4.6;-4.62	5.79	5.79	0.91817	.	0.061993	0.64402	D	0.000004	D	0.98516	0.9505	M	0.77820	2.39	0.58432	D	0.999999	D;D;P;D	0.89917	0.998;0.999;0.954;1.0	D;D;D;D	0.85130	0.99;0.997;0.932;0.997	D	0.98863	1.0763	10	0.33141	T	0.24	.	16.1299	0.81422	1.0:0.0:0.0:0.0	.	108;108;130;143	G3V0H1;F5H0I3;P35711-4;P35711	.;.;.;SOX5_HUMAN	A	130;130;130;143;95;108;130;133;133;108;130	ENSP00000437487:V130A;ENSP00000308927:V130A;ENSP00000370788:V130A;ENSP00000398273:V143A;ENSP00000439832:V108A;ENSP00000441973:V130A;ENSP00000443520:V133A	ENSP00000308927:V130A	V	-	2	0	SOX5	23890237	1.000000	0.71417	0.203000	0.23512	0.997000	0.91878	8.946000	0.92992	2.215000	0.71742	0.528000	0.53228	GTT	SOX5	-	NULL	ENSG00000134532		0.498	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0	50	0	A	NM_006940		23998970	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	46.55	31	27	SNP	0.996	G	G	23998970	A	G	23998970	3	3	92	1	0	0	0	0	1	0	0	0	14999	43	2	4	1925	4	SOX5	12	23998970	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	22005532	23998970	109852925	141	26716											
KRAS	3845	genome.wustl.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85					12																	25398284		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	-	0	59	0	C	NM_033360		25398284	-1	tier1	rs121913529	no_errors	ENST00000256078	ensembl	human	known	74_37	missense	27.78	52	20	SNP	1.000	T	T	25398284	C	T	25398284	3	4	92	1	0	0	0	0	1	0	0	0	8465	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1399314	25398284	108453611	142	26717											
DPY19L2	283417	genome.wustl.edu	37	chr12	63963039	63963040	+	Frame_Shift_Del	DEL	AT	AT	-																															caccatgcctcttctaaaacAtaataattcacatgtaactc																								rs145607894		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:63963039_63963040delAT	ENST00000324472.4	-	21	2273_2274	c.2090_2091delAT	c.(2089-2091)tatfs	p.Y697fs	DPY19L2_ENST00000413230.2_Frame_Shift_Del_p.Y144fs	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	697					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTTCTAAAACATAATAATTCAC	0.307																																																	0																																										SO:0001589	frameshift_variant	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"spermatogenesis associated 34"	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.2090_2091delAT	12.37:g.63963039_63963040delAT	ENSP00000315988:p.Tyr697fs		A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Frame_Shift_Del	DEL	pfam_Dpy-19	p.Y697fs	ENST00000324472.4	37	c.2091_2090	CCDS31851.1	12																																																																																			DPY19L2	-	pfam_Dpy-19	ENSG00000177990		0.307	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2		0	172	0	AT	NM_173812		63963040	-1	tier1		no_errors	ENST00000324472	ensembl	human	known	74_37	frame_shift_del	25.13	149	50	DEL	0.987:0.997	-	-	63963040	AT	-	63963039	7	5	92	1	0	1	0	1	0	0	0	0	4755	224	8	0	193	0	DPY19L2	12	63963039	Frame_Shift_Del	DEL	AT	TCGA-L5-A8NT-01A-11D-A37C-09	38564755	63963039	69888856	143	26718											
NAV3	89795	genome.wustl.edu	37	chr12	78444920	78444920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaggactgatgacatcAacagtgggtaagtaaccctg	12	9	11	9	0	2	2	2	2	1	0	3	3	2	3	1	2	2	2	1	2	3	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:78444920A>G	ENST00000397909.2	+	11	2682	c.2509A>G	c.(2509-2511)Aac>Gac	p.N837D	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.N837D|NAV3_ENST00000266692.7_Missense_Mutation_p.N837D|NAV3_ENST00000536525.2_Missense_Mutation_p.N837D			Q8IVL0	NAV3_HUMAN	neuron navigator 3	837						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGATGACATCAACAGTGGGTA	0.453										HNSCC(70;0.22)																																							0													66	65	66					12																	78444920		2034	4206	6240	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2509A>G	12.37:g.78444920A>G	ENSP00000381007:p.Asn837Asp		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.N837D	ENST00000397909.2	37	c.2509		12	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276619	0.80580	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.27557	1.77;1.78;1.76;1.66	5.79	5.79	0.91817	.	0.000000	0.43110	U	0.000608	T	0.24353	0.0590	N	0.25647	0.755	0.80722	D	1	P;P;P	0.44195	0.65;0.828;0.628	B;B;B	0.40066	0.247;0.157;0.318	T	0.02307	-1.1179	10	0.27785	T	0.31	-27.1311	16.1249	0.81386	1.0:0.0:0.0:0.0	.	837;837;837	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	D	837	ENSP00000446132:N837D;ENSP00000381007:N837D;ENSP00000228327:N837D;ENSP00000266692:N837D	ENSP00000228327:N837D	N	+	1	0	NAV3	76969051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.871000	0.75531	2.208000	0.71279	0.533000	0.62120	AAC	NAV3	-	NULL	ENSG00000067798		0.453	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	48	0	A	NM_001024383		78444920	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G	G	78444920	A	G	78444920	3	3	92	1	0	0	0	0	1	0	0	0	10223	130	5	4	2551	4	NAV3	12	78444920	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	14481881	78444920	55406975	144	26719											
RBM19	9904	genome.wustl.edu	37	chr12	114356243	114356243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcttgtggccgtccaCgacgtgaccctaagagagaa	10	8	11	12	3	0	3	0	1	0	2	2	5	2	3	4	1	1	1	4	1	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:114356243C>T	ENST00000545145.2	-	20	2473	c.2395G>A	c.(2395-2397)Gtg>Atg	p.V799M	RBM19_ENST00000392561.3_Missense_Mutation_p.V799M|RBM19_ENST00000261741.5_Missense_Mutation_p.V799M	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	799	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGCCGTCCACGACGTGACCC	0.547																																																	0													128	107	114					12																	114356243		2203	4300	6503	SO:0001583	missense	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2395G>A	12.37:g.114356243C>T	ENSP00000442053:p.Val799Met		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.V799M	ENST00000545145.2	37	c.2395	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	C	16.79	3.221581	0.58560	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.75050	-0.9;-0.9;-0.9	4.48	4.48	0.54585	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.78886	0.4354	L	0.39514	1.22	0.54753	D	0.999988	D	0.56746	0.977	D	0.63283	0.913	T	0.79902	-0.1607	10	0.52906	T	0.07	-28.2928	14.1664	0.65480	0.0:1.0:0.0:0.0	.	799	Q9Y4C8	RBM19_HUMAN	M	799	ENSP00000442053:V799M;ENSP00000376344:V799M;ENSP00000261741:V799M	ENSP00000261741:V799M	V	-	1	0	RBM19	112840626	0.982000	0.34865	0.983000	0.44433	0.484000	0.33280	2.586000	0.46119	2.314000	0.78098	0.655000	0.94253	GTG	RBM19	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.547	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	-	0	35	0	C	NM_016196		114356243	-1	tier1	-	no_errors	ENST00000261741	ensembl	human	known	74_37	missense	13.73	44	7	SNP	0.989	T	T	114356243	C	T	114356243	3	4	92	1	0	0	0	0	1	0	0	0	13166	536	19	1	507	1	RBM19	12	114356243	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	35911323	114356243	19495652	145	26720											
PRKAB1	5564	genome.wustl.edu	37	chr12	120114351	120114351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcccaacagagctgtccaGttctcccccaggaccctacc	8	8	6	19	0	2	1	0	0	2	1	5	2	3	2	6	1	3	2	6	1	2	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:120114351G>A	ENST00000229328.5	+	5	1034	c.542G>A	c.(541-543)aGt>aAt	p.S181N	PRKAB1_ENST00000541640.1_Missense_Mutation_p.S181N|PRKAB1_ENST00000540121.1_Missense_Mutation_p.S15N	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	181					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	GAGCTGTCCAGTTCTCCCCCA	0.517																																																	0													134	128	130					12																	120114351		2203	4300	6503	SO:0001583	missense	0			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"AMPK beta 1"	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.542G>A	12.37:g.120114351G>A	ENSP00000229328:p.Ser181Asn		Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set	p.S181N	ENST00000229328.5	37	c.542	CCDS9191.1	12	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204750	0.58234	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596;ENST00000540121;ENST00000545223	.	.	.	5.79	5.79	0.91817	.	0.108515	0.85682	D	0.000000	T	0.66076	0.2753	M	0.73962	2.25	0.80722	D	1	P	0.36837	0.571	B	0.38921	0.285	T	0.62737	-0.6791	9	0.17832	T	0.49	-8.6995	20.0371	0.97565	0.0:0.0:1.0:0.0	.	181	Q9Y478	AAKB1_HUMAN	N	181;181;144;15;15	.	ENSP00000229328:S181N	S	+	2	0	PRKAB1	118598734	1.000000	0.71417	0.996000	0.52242	0.401000	0.30781	9.476000	0.97823	2.734000	0.93682	0.655000	0.94253	AGT	PRKAB1	-	NULL	ENSG00000111725		0.517	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAB1	HGNC	protein_coding	OTTHUMT00000401731.2	-	0	100	0	G	NM_006253		120114351	1	tier1	-	no_errors	ENST00000229328	ensembl	human	known	74_37	missense	32.67	68	33	SNP	1.000	A	A	120114351	G	A	120114351	3	1	92	1	0	0	0	0	1	0	0	0	12537	1029	36	3	560	3	PRKAB1	12	120114351	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	5758108	120114351	13737544	146	26721											
DNAH10	196385	genome.wustl.edu	37	chr12	124337760	124337760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatcaaaaagactctggCgaaaaagatgacggttctgt	14	11	9	7	2	4	3	1	1	3	2	4	4	4	3	0	2	0	1	0	2	5	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:124337760C>T	ENST00000409039.3	+	35	5970	c.5945C>T	c.(5944-5946)gCg>gTg	p.A1982V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1982	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGACTCTGGCGAAAAAGATG	0.403																																																	0													34	32	33					12																	124337760		1859	4092	5951	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5945C>T	12.37:g.124337760C>T	ENSP00000386770:p.Ala1982Val		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.A1982V	ENST00000409039.3	37	c.5945	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563444	0.65651	.	.	ENSG00000197653	ENST00000409039	T	0.14022	2.54	5.7	4.81	0.61882	.	0.224065	0.36854	U	0.002377	T	0.53206	0.1782	H	0.97465	4.01	0.58432	D	0.999994	D	0.89917	1.0	D	0.87578	0.998	T	0.71951	-0.4437	10	0.87932	D	0	.	14.8368	0.70190	0.0:0.9311:0.0:0.0689	.	1982	Q8IVF4	DYH10_HUMAN	V	1982	ENSP00000386770:A1982V	ENSP00000386770:A1982V	A	+	2	0	DNAH10	122903713	1.000000	0.71417	0.999000	0.59377	0.110000	0.19582	7.805000	0.86005	1.406000	0.46857	0.655000	0.94253	GCG	DNAH10	-	superfamily_P-loop_NTPase	ENSG00000197653		0.403	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0	100	0	C			124337760	1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	33.93	74	38	SNP	1.000	T	T	124337760	C	T	124337760	3	4	92	1	0	0	0	0	1	0	0	0	4612	768	27	1	6083	1	DNAH10	12	124337760	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	4223409	124337760	9514135	147	26722											
CHFR	55743	genome.wustl.edu	37	chr12	133438075	133438075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcattttcttcttcacGggctccaaatcctcctgatc	6	15	4	16	1	4	1	2	1	3	0	9	1	7	1	4	1	0	1	4	1	1	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr12:133438075G>A	ENST00000432561.2	-	7	838	c.765C>T	c.(763-765)ccC>ccT	p.P255P	CHFR_ENST00000450056.2_Silent_p.P243P|CHFR_ENST00000443047.2_Silent_p.P163P|CHFR_ENST00000266880.7_Silent_p.P255P|CHFR_ENST00000315585.7_Silent_p.P214P|CHFR_ENST00000541837.2_5'UTR			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	255					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P255P(1)|p.P214P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCTTCTTCACGGGCTCCAAAT	0.567																																																	2	Substitution - coding silent(2)	endometrium(2)											217	182	194					12																	133438075		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"RING-type (C3HC4) zinc fingers"	20455	protein-coding gene	gene with protein product		605209	"checkpoint with forkhead and ring finger domains"			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.765C>T	12.37:g.133438075G>A			A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.P255	ENST00000432561.2	37	c.765	CCDS53849.1	12																																																																																			CHFR	-	NULL	ENSG00000072609		0.567	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	-	0	100	0	G			133438075	-1	tier1	-	no_errors	ENST00000266880	ensembl	human	known	74_37	silent	40.68	70	48	SNP	0.007	A	A	133438075	G	A	133438075	2	1	92	1	0	0	0	0	0	0	0	1	3344	1103	39	1		1	CHFR	12	133438075	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	9100315	133438075	413820	148	26723											
MAB21L1	4081	genome.wustl.edu	37	chr13	36049601	36049601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacccaggcgtcgctctcCgccgagctctgcttgccggc	4	7	12	18	5	2	0	0	0	2	0	4	1	2	0	4	2	4	4	4	2	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr13:36049601C>T	ENST00000379919.4	-	1	1231	c.675G>A	c.(673-675)gcG>gcA	p.A225A	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000400445.3_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	225					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CGTCGCTCTCCGCCGAGCTCT	0.622																																																	0													52	58	56					13																	36049601		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"mab-21 (C. elegans)-like 1"			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.675G>A	13.37:g.36049601C>T			Q6I9T5	Silent	SNP	pfam_Mab-21_dom	p.A225	ENST00000379919.4	37	c.675	CCDS9353.1	13																																																																																			MAB21L1	-	pfam_Mab-21_dom	ENSG00000180660		0.622	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	-	0	23	0	C	NM_005584		36049601	-1	tier1	-	no_errors	ENST00000379919	ensembl	human	known	74_37	silent	60.00	12	18	SNP	0.877	T	T	36049601	C	T	36049601	2	4	92	1	0	0	0	0	0	0	0	1	9177	639	23	1		1	MAB21L1	13	36049601	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		36049601	79120277	149	26724											
NEK5	341676	genome.wustl.edu	37	chr13	52661570	52661570	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggttgtaatttggctcGgcagaagatggacgaagacc	10	10	13	8	2	1	3	0	0	1	3	2	5	1	4	1	4	0	4	1	4	3	3	rs530160119		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr13:52661570G>A	ENST00000355568.4	-	15	1435	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	432					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AATTTGGCTCGGCAGAAGATG	0.368													G|||	1	0.000199681	0	0	5008	,	,		16417	0		0.001	False		,,,				2504	0																0													125	117	120					13																	52661570		2203	4300	6503	SO:0001819	synonymous_variant	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"NIMA (never in mitosis gene a)-related kinase 5"			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1296C>T	13.37:g.52661570G>A			Q5TAP5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A432	ENST00000355568.4	37	c.1296	CCDS31979.1	13																																																																																			NEK5	-	NULL	ENSG00000197168		0.368	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	-	0	92	0	G	NM_199289		52661570	-1	tier1	-	no_errors	ENST00000355568	ensembl	human	known	74_37	silent	49.25	68	66	SNP	0.975	A	A	52661570	G	A	52661570	2	1	92	1	0	0	0	0	0	0	0	1	10366	1103	39	1		1	NEK5	13	52661570	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	16611969	52661570	62508308	150	26725											
SOX1	6656	genome.wustl.edu	37	chr13	112722424	112722424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcgggtggcggcggcgCggctgtggccatgggcgtgg	1	5	24	11	8	0	0	0	0	0	0	0	0	0	0	1	9	0	1	1	9	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr13:112722424C>T	ENST00000330949.1	+	1	512	c.452C>T	c.(451-453)gCg>gTg	p.A151V		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	151					chromatin organization (GO:0006325)|forebrain neuron development (GO:0021884)|lens morphogenesis in camera-type eye (GO:0002089)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		ggcggcggcgcggcTGTGGCC	0.776																																																	0													3	4	3					13																	112722424		1648	3378	5026	SO:0001583	missense	0				CCDS9523.1	13q34	2008-07-18			ENSG00000182968	ENSG00000182968		"SRY (sex determining region Y)-boxes"	11189	protein-coding gene	gene with protein product	"SRY-related HMG-box gene 1"	602148				9337405	Standard	NM_005986		Approved		uc001vsb.1	O00570	OTTHUMG00000017362	ENST00000330949.1:c.452C>T	13.37:g.112722424C>T	ENSP00000330218:p.Ala151Val		Q5W0Q1	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A151V	ENST00000330949.1	37	c.452	CCDS9523.1	13	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400206	0.42613	.	.	ENSG00000182968	ENST00000330949	T	0.52754	0.65	2.9	2.03	0.26663	.	0.204155	0.30076	U	0.010471	T	0.23330	0.0564	N	0.19112	0.55	0.26314	N	0.97778	P	0.45827	0.867	B	0.36845	0.234	T	0.12528	-1.0544	10	0.40728	T	0.16	.	3.2629	0.06855	0.0:0.5075:0.2253:0.2672	.	151	O00570	SOX1_HUMAN	V	151	ENSP00000330218:A151V	ENSP00000330218:A151V	A	+	2	0	SOX1	111770425	0.953000	0.32496	1.000000	0.80357	0.662000	0.39071	1.979000	0.40608	0.414000	0.25790	0.450000	0.29827	GCG	SOX1	-	pfam_TF_SOX	ENSG00000182968		0.776	SOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX1	HGNC	protein_coding	OTTHUMT00000045817.3	-	0	11	0	C	NM_005986		112722424	1	tier1	-	no_errors	ENST00000330949	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T	T	112722424	C	T	112722424	3	4	92	1	0	0	0	0	1	0	0	0	14985	768	27	1	454	1	SOX1	13	112722424	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	60060854	112722424	2447454	151	26726											
PRMT5	10419	genome.wustl.edu	37	chr14	23394147	23394147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagagttcataggcattagGtggaggacggttctggctta	11	11	14	5	1	2	1	1	0	1	1	2	3	2	3	0	6	0	4	0	6	4	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr14:23394147G>A	ENST00000324366.8	-	8	1103	c.880C>T	c.(880-882)Cct>Tct	p.P294S	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.P233S|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.P250S|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.P188S|PRMT5_ENST00000553641.1_5'Flank|PRMT5_ENST00000397440.4_Missense_Mutation_p.P123S|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.P277S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	294					cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TAGGCATTAGGTGGAGGACGG	0.522																																																	0													202	195	197					14																	23394147		2203	4300	6503	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"Protein arginine methyltransferases"	10894	protein-coding gene	gene with protein product		604045	"skb1 (S. pombe) homolog", "SKB1 homolog (S. pombe)"	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.880C>T	14.37:g.23394147G>A	ENSP00000319169:p.Pro294Ser		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.P294S	ENST00000324366.8	37	c.880	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243285	0.39697	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530;ENST00000556043;ENST00000553550	.	.	.	6.04	6.04	0.98038	.	0.095738	0.64402	D	0.000001	T	0.62454	0.2429	L	0.58583	1.82	0.80722	D	1	B;B;B;P;B	0.35944	0.232;0.078;0.078;0.529;0.274	B;B;B;B;B	0.39027	0.07;0.055;0.115;0.288;0.115	T	0.56456	-0.7976	9	0.14252	T	0.57	-14.1838	19.3507	0.94384	0.0:0.0:1.0:0.0	.	250;233;123;294;277	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	S	294;277;123;233;188;250;37;189;46;140	.	ENSP00000216350:P233S	P	-	1	0	PRMT5	22463987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.032000	0.93736	2.873000	0.98535	0.561000	0.74099	CCT	PRMT5	-	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.522	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	-	0	93	0	G			23394147	-1	tier1	-	no_errors	ENST00000324366	ensembl	human	known	74_37	missense	19.44	87	21	SNP	1.000	A	A	23394147	G	A	23394147	3	1	92	1	0	0	0	0	1	0	0	0	12581	1261	44	3	1073	3	PRMT5	14	23394147	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		23394147	83955393	152	26727											
FOXG1	2290	genome.wustl.edu	37	chr14	29237109	29237109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacgctcaacggcatctaCgagttcatcatgaagaactt	12	10	7	12	3	5	2	4	1	1	1	5	3	5	2	0	1	3	3	0	1	4	3	rs267606826		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr14:29237109C>T	ENST00000313071.4	+	1	823	c.624C>T	c.(622-624)taC>taT	p.Y208Y	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Silent_p.Y208Y|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	208					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACGGCATCTACGAGTTCATCA	0.562																																																	0													56	53	54					14																	29237109		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.624C>T	14.37:g.29237109C>T			A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Y208	ENST00000313071.4	37	c.624	CCDS9636.1	14																																																																																			FOXG1	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	ENSG00000176165		0.562	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	70	0	C			29237109	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	silent	40.54	44	30	SNP	1.000	T	T	29237109	C	T	29237109	2	4	92	1	0	0	0	0	0	0	0	1	6031	547	19	1		1	FOXG1	14	29237109	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	5842962	29237109	78112431	153	26728											
HEATR5A	25938	genome.wustl.edu	37	chr14	31771645	31771645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactgtcgaagataactGgcccccaggtaacttcacag	12	8	9	12	1	1	1	1	0	0	1	2	2	1	1	2	2	4	2	2	2	4	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr14:31771645G>T	ENST00000389961.3	-	32	5301	c.5302C>A	c.(5302-5304)Cag>Aag	p.Q1768K	HEATR5A_ENST00000439348.1_Intron|HEATR5A_ENST00000543095.2_Missense_Mutation_p.Q1774K|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.Q1481K			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1768										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAAGATAACTGGCCCCCAGGT	0.468																																																	0													39	41	41					14																	31771645		1853	4098	5951	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 125"	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5302C>A	14.37:g.31771645G>T	ENSP00000374611:p.Gln1768Lys		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1768K	ENST00000389961.3	37	c.5302		14	.	.	.	.	.	.	.	.	.	.	G	12.82	2.054030	0.36277	.	.	ENSG00000129493	ENST00000389961;ENST00000439727;ENST00000543095	T;T;T	0.63255	-0.03;-0.03;-0.03	4.89	4.89	0.63831	.	0.421237	0.27000	N	0.021423	T	0.49966	0.1588	N	0.13235	0.315	0.80722	D	1	.	.	.	.	.	.	T	0.43114	-0.9411	8	0.07482	T	0.82	.	18.41	0.90548	0.0:0.0:1.0:0.0	.	.	.	.	K	1768;1481;1774	ENSP00000374611:Q1768K;ENSP00000408681:Q1481K;ENSP00000437968:Q1774K	ENSP00000374611:Q1768K	Q	-	1	0	HEATR5A	30841396	1.000000	0.71417	0.767000	0.31495	0.735000	0.41995	6.647000	0.74354	2.441000	0.82636	0.561000	0.74099	CAG	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.468	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		-	0	66	0	G	NM_015473		31771645	-1	tier1	-	no_errors	ENST00000389961	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.991	T	T	31771645	G	T	31771645	3	4	92	1	0	0	0	0	1	0	0	0	7058	1357	47	3	836	3	HEATR5A	14	31771645	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2534536	31771645	75577895	154	26729											
ARHGAP5	394	genome.wustl.edu	37	chr14	32623994	32623994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtgtcagtttttcttttAcaatggagaaattgtagaaa	13	15	9	4	0	2	2	1	0	1	2	2	3	2	2	0	1	1	3	0	1	5	6	rs573152967		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr14:32623994A>G	ENST00000345122.3	+	7	4664	c.4349A>G	c.(4348-4350)tAc>tGc	p.Y1450C	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Y1449C|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.Y189C|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Y1450C|ARHGAP5_ENST00000396582.2_Missense_Mutation_p.Y185C|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Y1449C	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1450					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTTTTCTTTTACAATGGAGAA	0.413													A|||	1	0.000199681	8e-04	0	5008	,	,		18957	0		0	False		,,,				2504	0				NSCLC(9;77 350 3443 29227 41353)												0													67	62	63					14																	32623994		2203	4300	6503	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.4349A>G	14.37:g.32623994A>G	ENSP00000371897:p.Tyr1450Cys		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.Y1450C	ENST00000345122.3	37	c.4349	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054251	0.36277	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497	T;T;T;T;T;T	0.21932	3.0;2.99;1.98;2.99;3.0;1.98	4.87	4.87	0.63330	Rho GTPase-activating protein domain (1);	0.282258	0.36167	N	0.002743	T	0.23370	0.0565	L	0.55990	1.75	0.58432	D	0.999998	B;B;B	0.29115	0.233;0.043;0.025	B;B;B	0.30782	0.1;0.12;0.061	T	0.03068	-1.1076	10	0.33141	T	0.24	.	14.8156	0.70031	1.0:0.0:0.0:0.0	.	185;1449;1450	Q13017-3;Q13017-2;Q13017	.;.;RHG05_HUMAN	C	1449;1450;185;1450;1449;189	ENSP00000452222:Y1449C;ENSP00000441692:Y1450C;ENSP00000379827:Y185C;ENSP00000371897:Y1450C;ENSP00000393307:Y1449C;ENSP00000407395:Y189C	ENSP00000371897:Y1450C	Y	+	2	0	ARHGAP5	31693745	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	9.093000	0.94163	1.973000	0.57446	0.524000	0.50904	TAC	ARHGAP5	-	NULL	ENSG00000100852		0.413	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1		0	88	0	A	NM_001030055		32623994	1			no_errors	ENST00000345122	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G	G	32623994	A	G	32623994	3	3	92	1	0	0	0	0	1	0	0	0	886	391	14	4	4371	4	ARHGAP5	14	32623994	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	852349	32623994	74725546	155	26730											
LTBP2	4053	genome.wustl.edu	37	chr14	75052601	75052601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgactgtggtgctggCggctgtgctctggccaaggt	3	9	19	10	3	1	0	0	0	1	0	1	1	1	0	1	7	2	3	1	7	1	0	rs370399148		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr14:75052601C>T	ENST00000261978.4	-	3	1172	c.786G>A	c.(784-786)ccG>ccA	p.P262P	LTBP2_ENST00000556690.1_Silent_p.P262P|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	262					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGGTGCTGGCGGCTGTGCTC	0.672																																																	0								C		1,4403	2.1+/-5.4	0,1,2201	41	51	47		786	-10.8	0	14		47	0,8598		0,0,4299	no	coding-synonymous	LTBP2	NM_000428.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		262/1822	75052601	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.786G>A	14.37:g.75052601C>T			Q99907|Q9NS51	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P262	ENST00000261978.4	37	c.786	CCDS9831.1	14																																																																																			LTBP2	-	NULL	ENSG00000119681		0.672	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	-	0	116	0	C	NM_000428		75052601	-1	tier1	-	no_errors	ENST00000261978	ensembl	human	known	74_37	silent	5.75	82	5	SNP	0.000	T	T	75052601	C	T	75052601	2	4	92	1	0	0	0	0	0	0	0	1	9109	755	27	1		1	LTBP2	14	75052601	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	42428607	75052601	32296939	156	26731											
PPP2R5C	5527	genome.wustl.edu	37	chr14	102360876	102360876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgcagtttttagaaaaGgacagcaccctcacggaacc	13	8	10	10	1	1	1	1	0	0	1	1	3	1	3	2	2	3	4	2	2	5	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr14:102360876G>T	ENST00000334743.5	+	8	879	c.831G>T	c.(829-831)aaG>aaT	p.K277N	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.K277N|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.K277N|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.K332N|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.K308N|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.K277N	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	277					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTTAGAAAAGGACAGCACCC	0.378																																																	0													170	134	146					14																	102360876		2203	4300	6503	SO:0001583	missense	0			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"	9311	protein-coding gene	gene with protein product		601645	"protein phosphatase 2, regulatory subunit B (B56), gamma isoform", "protein phosphatase 2, regulatory subunit B', gamma isoform"			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.831G>T	14.37:g.102360876G>T	ENSP00000333905:p.Lys277Asn		B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.K308N	ENST00000334743.5	37	c.924	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861591	0.91433	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	T;T;T;T;T	0.57752	0.39;0.39;0.38;0.44;0.42	5.8	5.8	0.92144	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81992	0.4940	H	0.98256	4.185	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.999;1.0;0.998;1.0	D;D;D;D;D;D	0.80764	0.938;0.989;0.936;0.969;0.913;0.994	D	0.87576	0.2481	10	0.87932	D	0	-23.2182	13.2812	0.60214	0.072:0.0:0.928:0.0	.	308;175;277;277;277;332	F5GWP3;E9PHN5;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;.;2A5G_HUMAN;.;.	N	308;332;306;277;175;277;277;277;73	ENSP00000412324:K308N;ENSP00000329009:K332N;ENSP00000450931:K306N;ENSP00000262239:K277N;ENSP00000333905:K277N	ENSP00000329009:K332N	K	+	3	2	PPP2R5C	101430629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.679000	0.68160	2.741000	0.93983	0.650000	0.86243	AAG	PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000078304		0.378	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	-	0	71	0	G	NM_002719		102360876	1	tier1	-	no_errors	ENST00000422945	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	102360876	G	T	102360876	3	4	92	1	0	0	0	0	1	0	0	0	12436	991	35	3	1230	3	PPP2R5C	14	102360876	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	27308275	102360876	4988664	157	26732											
LTK	4058	genome.wustl.edu	37	chr15	41803369	41803371	+	In_Frame_Del	DEL	GCC	GCC	-																															acggtgcacctacccctgtaGccgccgccgcctccgcccgc																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr15:41803369_41803371delGCC	ENST00000263800.6	-	7	1084_1086	c.988_990delGGC	c.(988-990)ggcdel	p.G330del	LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Intron|LTK_ENST00000453182.2_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	330					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TACCCCTGTAgccgccgccgcct	0.729										TSP Lung(18;0.14)																																							0																																										SO:0001651	inframe_deletion	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.988_990delGGC	15.37:g.41803378_41803380delGCC	ENSP00000263800:p.Gly330del		A6NNJ8|B4DL89|E9PFX4	In_Frame_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G330in_frame_del	ENST00000263800.6	37	c.990_988	CCDS10077.1	15																																																																																			LTK	-	NULL	ENSG00000062524		0.729	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2		0	73	0	GCC			41803371	-1	tier1		no_errors	ENST00000263800	ensembl	human	known	74_37	in_frame_del	5.71	33	2	DEL	1.000:1.000:1.000	-	-	41803371	GCC	-	41803369	7	5	92	1	0	1	0	1	0	0	0	0	9115	958	34	0	1660	0	LTK	15	41803369	In_Frame_Del	DEL	GCC	TCGA-L5-A8NT-01A-11D-A37C-09		41803369	60728023	158	26733											
LTK	4058	genome.wustl.edu	37	chr15	41804982	41804982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccccacggtcaccaccacGctggtccccgcgtacgcccc	5	4	9	23	5	1	0	1	0	0	0	2	0	2	0	8	2	1	2	8	2	1	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr15:41804982G>T	ENST00000263800.6	-	3	378	c.282C>A	c.(280-282)agC>agA	p.S94R	LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Missense_Mutation_p.S94R|LTK_ENST00000453182.2_Missense_Mutation_p.S94R	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	94					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCACCACCACGCTGGTCCCCG	0.697										TSP Lung(18;0.14)																																							0													13	14	13					15																	41804982		2190	4280	6470	SO:0001583	missense	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"leukocyte tyrosine kinase"			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.282C>A	15.37:g.41804982G>T	ENSP00000263800:p.Ser94Arg		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S94R	ENST00000263800.6	37	c.282	CCDS10077.1	15	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543324	0.65198	.	.	ENSG00000062524	ENST00000360087;ENST00000355166;ENST00000263800;ENST00000453182	T;T;T	0.76578	-1.03;-0.79;-0.98	4.08	2.16	0.27623	.	0.185928	0.26099	U	0.026349	T	0.78407	0.4278	L	0.47716	1.5	0.22001	N	0.999424	P;D;P	0.53151	0.93;0.958;0.907	P;P;P	0.57720	0.674;0.826;0.511	T	0.68296	-0.5446	10	0.87932	D	0	.	7.1632	0.25675	0.3646:0.0:0.6354:0.0	.	94;94;94	E9PFX4;P29376-4;P29376	.;.;LTK_HUMAN	R	94	ENSP00000347293:S94R;ENSP00000263800:S94R;ENSP00000392196:S94R	ENSP00000263800:S94R	S	-	3	2	LTK	39592274	0.456000	0.25744	0.987000	0.45799	0.870000	0.49936	0.447000	0.21710	0.362000	0.24319	0.491000	0.48974	AGC	LTK	-	NULL	ENSG00000062524		0.697	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2		0	124	0	G			41804982	-1			no_errors	ENST00000263800	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T	T	41804982	G	T	41804982	3	4	92	1	0	0	0	0	1	0	0	0	9115	1078	38	2	2384	2	LTK	15	41804982	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1613	41804982	60726410	159	26734											
CILP	8483	genome.wustl.edu	37	chr15	65491165	65491165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcacgatgctccgagtttCcgtacaccgctggcagctgc	6	8	11	16	5	0	0	0	0	0	0	2	2	2	0	4	1	4	7	4	1	1	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr15:65491165C>T	ENST00000261883.4	-	9	1625	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	487					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCCGAGTTTCCGTACACCGC	0.597																																																	0													67	55	59					15																	65491165		2202	4299	6501	SO:0001583	missense	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.1459G>A	15.37:g.65491165C>T	ENSP00000261883:p.Glu487Lys		B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.E487K	ENST00000261883.4	37	c.1459	CCDS10203.1	15	.	.	.	.	.	.	.	.	.	.	C	8.758	0.922916	0.18056	.	.	ENSG00000138615	ENST00000261883	T	0.37235	1.21	5.95	5.04	0.67666	.	0.047834	0.85682	D	0.000000	T	0.28928	0.0718	L	0.34521	1.04	0.43439	D	0.995616	B	0.24483	0.104	B	0.21151	0.033	T	0.04065	-1.0980	10	0.30854	T	0.27	-23.8012	14.4518	0.67389	0.0:0.9297:0.0:0.0703	.	487	O75339	CILP1_HUMAN	K	487	ENSP00000261883:E487K	ENSP00000261883:E487K	E	-	1	0	CILP	63278218	0.999000	0.42202	0.902000	0.35471	0.260000	0.26232	4.070000	0.57548	1.526000	0.49068	0.655000	0.94253	GAA	CILP	-	NULL	ENSG00000138615		0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1		0	50	0	C	NM_003613		65491165	-1			no_errors	ENST00000261883	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.998	T	T	65491165	C	T	65491165	3	4	92	1	0	0	0	0	1	0	0	0	3436	864	30	3	2099	3	CILP	15	65491165	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	23686183	65491165	37040227	160	26735											
BNC1	646	genome.wustl.edu	37	chr15	83933212	83933212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgaccctgctccaacataTattgttcgggcaatgaccct	10	11	7	13	1	0	2	0	2	0	0	2	2	1	2	3	1	2	3	3	1	4	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr15:83933212T>G	ENST00000345382.2	-	4	876	c.791A>C	c.(790-792)tAt>tCt	p.Y264S	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.Y257S	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	264					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CTCCAACATATATTGTTCGGG	0.498																																																	0													84	82	83					15																	83933212		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"Zinc fingers, C2H2-type"	1081	protein-coding gene	gene with protein product		601930	"basonuclin"	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.791A>C	15.37:g.83933212T>G	ENSP00000307041:p.Tyr264Ser		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y264S	ENST00000345382.2	37	c.791	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	T	5.184	0.219501	0.09863	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.03181	4.02	5.23	4.07	0.47477	.	0.630970	0.16849	N	0.197006	T	0.03915	0.0110	L	0.46157	1.445	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.11329	0.005;0.006	T	0.42565	-0.9444	10	0.22706	T	0.39	-9.3412	6.2488	0.20833	0.3102:0.0:0.137:0.5528	.	257;264	F5GY04;Q01954	.;BNC1_HUMAN	S	264;257	ENSP00000307041:Y264S	ENSP00000307041:Y264S	Y	-	2	0	BNC1	81724216	0.477000	0.25909	0.031000	0.17742	0.972000	0.66771	1.426000	0.34870	0.945000	0.37605	0.533000	0.62120	TAT	BNC1	-	NULL	ENSG00000169594		0.498	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0	109	0	T	NM_001717		83933212	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	45.31	35	29	SNP	0.001	G	G	83933212	T	G	83933212	3	3	92	1	0	0	0	0	1	0	0	0	1476	1406	49	4	2201	4	BNC1	15	83933212	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	18442047	83933212	18598180	161	26736											
AKAP13	11214	genome.wustl.edu	37	chr15	86064675	86064675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagggtgattgtgttgttaCagtgctgcttgctgaagagg	7	14	15	5	0	0	3	0	2	0	1	0	3	0	3	0	2	4	5	0	2	3	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr15:86064675C>T	ENST00000394518.2	+	3	145	c.50C>T	c.(49-51)aCa>aTa	p.T17I	AKAP13_ENST00000560302.1_Missense_Mutation_p.T17I|AKAP13_ENST00000361243.2_Missense_Mutation_p.T17I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	17					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGTGTTGTTACAGTGCTGCTT	0.408																																					Melanoma(94;603 1453 3280 32295 32951)												0													411	360	377					15																	86064675		2203	4299	6502	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.50C>T	15.37:g.86064675C>T	ENSP00000378026:p.Thr17Ile		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.T17I	ENST00000394518.2	37	c.50	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955409	0.53293	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.61040	0.14;0.14	5.57	4.64	0.57946	.	.	.	.	.	T	0.67924	0.2945	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.70219	-0.4932	9	0.56958	D	0.05	.	14.5619	0.68144	0.0:0.8526:0.1474:0.0	.	17;17;17	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	I	17;17;16;16	ENSP00000354718:T17I;ENSP00000378026:T17I	ENSP00000354718:T17I	T	+	2	0	AKAP13	83865679	0.998000	0.40836	0.714000	0.30535	0.907000	0.53573	4.869000	0.63028	1.481000	0.48307	0.650000	0.86243	ACA	AKAP13	-	NULL	ENSG00000170776		0.408	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	86	0	C	NM_007200		86064675	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.910	T	T	86064675	C	T	86064675	3	4	92	1	0	0	0	0	1	0	0	0	449	478	17	3	56	3	AKAP13	15	86064675	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2131463	86064675	16466717	162	26737											
CCDC64B	146439	genome.wustl.edu	37	chr16	3078433	3078433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagggagtctcgctccagCgagacgcggttgagctgcag	8	6	16	11	4	1	2	0	1	1	1	3	5	2	3	1	2	3	4	1	2	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:3078433C>T	ENST00000572449.1	-	9	1337	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	CCDC64B_ENST00000573514.1_Silent_p.S218S|CCDC64B_ENST00000389347.4_Silent_p.S425S			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	425										breast(1)|endometrium(2)|large_intestine(1)	4						CTCGCTCCAGCGAGACGCGGT	0.721																																																	0													4	5	5					16																	3078433		1692	3748	5440	SO:0001819	synonymous_variant	0			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1275G>A	16.37:g.3078433C>T			Q658L9	Silent	SNP	superfamily_Sig_transdc_His_kinase_dimeric	p.S425	ENST00000572449.1	37	c.1275	CCDS45393.1	16																																																																																			CCDC64B	-	NULL	ENSG00000162069		0.721	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	-	0	13	0	C			3078433	-1	tier1	-	no_errors	ENST00000389347	ensembl	human	known	74_37	silent	83.33	1	5	SNP	0.954	T	T	3078433	C	T	3078433	2	4	92	1	0	0	0	0	0	0	0	1	2843	755	27	1		1	CCDC64B	16	3078433	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		3078433	87276320	163	26738											
XPO6	23214	genome.wustl.edu	37	chr16	28109896	28109896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggggcaggctgtcgttgCagagtctgtagtagcgcagg	7	8	18	8	2	1	1	0	0	1	1	2	1	1	1	0	4	2	7	0	4	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:28109896C>T	ENST00000304658.5	-	24	3841	c.3341G>A	c.(3340-3342)tGc>tAc	p.C1114Y	XPO6_ENST00000565698.1_Missense_Mutation_p.C1100Y	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1114					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCTGTCGTTGCAGAGTCTGTA	0.612																																																	0													85	101	95					16																	28109896		2159	4264	6423	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"Exportins"	19733	protein-coding gene	gene with protein product		608411	"RAN binding protein 20"	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.3341G>A	16.37:g.28109896C>T	ENSP00000302790:p.Cys1114Tyr		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.C1114Y	ENST00000304658.5	37	c.3341	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688980	0.88735	.	.	ENSG00000169180	ENST00000304658	T	0.48522	0.81	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.61703	1.905	0.80722	D	1	D;D	0.69078	0.997;0.991	P;P	0.57679	0.825;0.687	T	0.64765	-0.6330	10	0.66056	D	0.02	-13.0705	16.8596	0.86014	0.0:1.0:0.0:0.0	.	1113;1114	B7ZM10;Q96QU8	.;XPO6_HUMAN	Y	1114	ENSP00000302790:C1114Y	ENSP00000302790:C1114Y	C	-	2	0	XPO6	28017397	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.751000	0.85126	2.587000	0.87381	0.655000	0.94253	TGC	XPO6	-	NULL	ENSG00000169180		0.612	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1		0	51	0	C	XM_055195		28109896	-1			no_errors	ENST00000304658	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	28109896	C	T	28109896	3	4	92	1	0	0	0	0	1	0	0	0	17497	710	25	3	40	3	XPO6	16	28109896	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	25031463	28109896	62244857	164	26739											
NOD2	64127	genome.wustl.edu	37	chr16	50745944	50745944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcgccaggcctgtgccCgctggtgtctggcccgcagc	2	7	15	17	4	1	0	0	0	1	0	2	0	2	0	5	4	2	2	5	4	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:50745944C>T	ENST00000300589.2	+	4	2227	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	708					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGCCTGTGCCCGCTGGTGTCT	0.682																																																	0													26	28	27					16																	50745944		2197	4297	6494	SO:0001583	missense	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2122C>T	16.37:g.50745944C>T	ENSP00000300589:p.Arg708Cys		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.R708C	ENST00000300589.2	37	c.2122	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018863	0.54576	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70986	-0.53	5.74	4.75	0.60458	.	0.189741	0.37261	N	0.002164	T	0.78916	0.4359	M	0.66939	2.045	0.09310	N	1	D;D;D	0.89917	1.0;0.998;1.0	P;P;P	0.60173	0.87;0.857;0.87	T	0.71391	-0.4607	10	0.62326	D	0.03	.	12.1848	0.54231	0.1695:0.8305:0.0:0.0	.	492;681;708	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	C	681;708	ENSP00000300589:R708C	ENSP00000300589:R708C	R	+	1	0	NOD2	49303445	0.209000	0.23505	0.663000	0.29738	0.972000	0.66771	0.819000	0.27308	2.712000	0.92718	0.561000	0.74099	CGC	NOD2	-	NULL	ENSG00000167207		0.682	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	0	51	0	C	NM_022162		50745944	1	tier1	-	no_errors	ENST00000300589	ensembl	human	known	74_37	missense	46.75	41	36	SNP	0.017	T	T	50745944	C	T	50745944	3	4	92	1	0	0	0	0	1	0	0	0	10556	652	23	1	2136	1	NOD2	16	50745944	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	22636048	50745944	39608809	165	26740											
CPNE2	221184	genome.wustl.edu	37	chr16	57153173	57153173	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacgatggcaagtggatgCtggtccacaggactgaggtg	10	7	17	7	1	0	2	0	1	0	1	1	6	1	4	1	5	1	2	1	5	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:57153173C>T	ENST00000535318.2	+	7	935	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L	CPNE2_ENST00000565874.1_Silent_p.L192L|CPNE2_ENST00000290776.8_Silent_p.L192L|CPNE2_ENST00000537605.1_Silent_p.L90L			Q96FN4	CPNE2_HUMAN	copine II	192	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CAAGTGGATGCTGGTCCACAG	0.587																																																	0													100	90	94					16																	57153173		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.574C>T	16.37:g.57153173C>T			Q68D19|Q719H8|Q86XP9	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.L192	ENST00000535318.2	37	c.574	CCDS10774.1	16																																																																																			CPNE2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000140848		0.587	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPNE2	HGNC	protein_coding	OTTHUMT00000432986.2	-	0	57	0	C	NM_152727		57153173	1	tier1	-	no_errors	ENST00000290776	ensembl	human	known	74_37	silent	5.43	87	5	SNP	1.000	T	T	57153173	C	T	57153173	2	4	92	1	0	0	0	0	0	0	0	1	3819	796	28	3		3	CPNE2	16	57153173	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	6407229	57153173	33201580	166	26741											
CCDC102A	92922	genome.wustl.edu	37	chr16	57559951	57559951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcctgagctgccccgcGggcccccagcccccaggctg	3	3	15	20	3	0	1	0	1	0	0	0	1	0	1	7	4	3	2	7	4	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:57559951G>A	ENST00000258214.2	-	3	920	c.674C>T	c.(673-675)cCg>cTg	p.P225L		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	225										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCTGCCCCGCGGGCCCCCAGC	0.711																																																	0													13	14	14					16																	57559951		2194	4281	6475	SO:0001583	missense	0			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.674C>T	16.37:g.57559951G>A	ENSP00000258214:p.Pro225Leu		Q9BT74	Missense_Mutation	SNP	NULL	p.P225L	ENST00000258214.2	37	c.674	CCDS10784.1	16	.	.	.	.	.	.	.	.	.	.	g	1.684	-0.505650	0.04261	.	.	ENSG00000135736	ENST00000258214	T	0.44083	0.93	5.47	0.694	0.18062	.	1.222320	0.05668	N	0.588158	T	0.20088	0.0483	N	0.03115	-0.41	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.20240	-1.0281	10	0.25751	T	0.34	0.1619	6.7694	0.23585	0.2776:0.1334:0.589:0.0	.	225	Q96A19	C102A_HUMAN	L	225	ENSP00000258214:P225L	ENSP00000258214:P225L	P	-	2	0	CCDC102A	56117452	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.558000	0.23469	0.263000	0.21812	-0.349000	0.07799	CCG	CCDC102A	-	NULL	ENSG00000135736		0.711	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102A	HGNC	protein_coding	OTTHUMT00000257348.1	-	0	56	0	G	NM_033212		57559951	-1	tier1	-	no_errors	ENST00000258214	ensembl	human	known	74_37	missense	25.00	45	15	SNP	0.000	A	A	57559951	G	A	57559951	3	1	92	1	0	0	0	0	1	0	0	0	2743	1116	39	1	1006	1	CCDC102A	16	57559951	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	406778	57559951	32794802	167	26742											
ELMO3	79767	genome.wustl.edu	37	chr16	67236656	67236656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggctgcggcagactgaaCggctgcaccaggagggcaca	9	4	16	12	3	0	2	0	1	0	1	0	3	0	3	1	5	4	5	1	5	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:67236656C>T	ENST00000360833.1	+	14	1690	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	ELMO3_ENST00000477898.1_Missense_Mutation_p.R396W|ELMO3_ENST00000393997.2_Missense_Mutation_p.R562W|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	509	PH.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGACTGAACGGCTGCACCA	0.632																																																	0													36	43	41					16																	67236656		2083	4211	6294	SO:0001583	missense	0				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"Engulfment and cell motility proteins"	17289	protein-coding gene	gene with protein product		606422	"engulfment and cell motility 3 (ced-12 homolog, C. elegans)"			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1633C>T	16.37:g.67236656C>T	ENSP00000354077:p.Arg545Trp		B4DV86|Q9H8A5	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R562W	ENST00000360833.1	37	c.1684		16	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913803	0.33815	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.54675	0.56;0.56	5.69	3.59	0.41128	.	0.000000	0.85682	D	0.000000	T	0.72011	0.3408	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76926	-0.2778	10	0.87932	D	0	-34.9744	12.9811	0.58564	0.4039:0.5961:0.0:0.0	.	509;545;562	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	W	545;562	ENSP00000354077:R545W;ENSP00000377566:R562W	ENSP00000354077:R545W	R	+	1	2	ELMO3	65794157	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	2.034000	0.41145	1.389000	0.46526	-0.314000	0.08810	CGG	ELMO3	-	NULL	ENSG00000102890		0.632	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000257667.2	-	0	54	0	C	NM_024712		67236656	1	tier1	-	no_errors	ENST00000393997	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T	T	67236656	C	T	67236656	3	4	92	1	0	0	0	0	1	0	0	0	5083	527	19	1	1742	1	ELMO3	16	67236656	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	9676705	67236656	23118097	168	26743											
TSNAXIP1	55815	genome.wustl.edu	37	chr16	67858589	67858589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatgagagctgaggaGaaatatgaaatctccctgct	12	9	11	9	0	1	4	0	3	1	2	2	6	1	4	2	2	2	2	2	2	3	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:67858589G>T	ENST00000388833.3	+	6	800	c.423G>T	c.(421-423)gaG>gaT	p.E141D	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.E195D|TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.E126D	NM_018430.2	NP_060900.2			translin-associated factor X interacting protein 1											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GAGCTGAGGAGAAATATGAAA	0.468																																																	0													64	63	63					16																	67858589		1942	4156	6098	SO:0001583	missense	0			AF132730	CCDS10846.2, CCDS73903.1, CCDS73904.1	16q22.2	2008-02-05			ENSG00000102904	ENSG00000102904			18586	protein-coding gene	gene with protein product		607720				12036294	Standard	XM_005256051		Approved	TXI1	uc002euj.3	Q2TAA8	OTTHUMG00000137545	ENST00000388833.3:c.423G>T	16.37:g.67858589G>T	ENSP00000373485:p.Glu141Asp			Missense_Mutation	SNP	NULL	p.E141D	ENST00000388833.3	37	c.423	CCDS10846.2	16	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894261	0.72639	.	.	ENSG00000102904	ENST00000415766;ENST00000388833	T;T	0.01084	5.36;5.36	6.17	4.17	0.49024	.	0.074389	0.52532	N	0.000080	T	0.03608	0.0103	M	0.72894	2.215	0.39334	D	0.965473	P;P;B	0.37207	0.587;0.587;0.38	P;P;B	0.48166	0.569;0.569;0.229	T	0.31251	-0.9950	10	0.87932	D	0	-25.8093	10.2445	0.43332	0.0714:0.1357:0.7929:0.0	.	126;195;141	E7ENJ7;B4DXD0;Q2TAA8	.;.;TXIP1_HUMAN	D	126;141	ENSP00000411472:E126D;ENSP00000373485:E141D	ENSP00000373485:E141D	E	+	3	2	TSNAXIP1	66416090	1.000000	0.71417	0.942000	0.38095	0.640000	0.38277	1.998000	0.40796	0.888000	0.36160	0.655000	0.94253	GAG	TSNAXIP1	-	NULL	ENSG00000102904		0.468	TSNAXIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TSNAXIP1	HGNC	protein_coding	OTTHUMT00000268876.2	-	0	71	0	G	NM_018430		67858589	1	tier1	-	no_errors	ENST00000388833	ensembl	human	known	74_37	missense	23.81	64	20	SNP	0.997	T	T	67858589	G	T	67858589	3	4	92	1	0	0	0	0	1	0	0	0	16680	933	33	3	437	3	TSNAXIP1	16	67858589	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	621933	67858589	22496164	169	26744											
WDR59	79726	genome.wustl.edu	37	chr16	74946165	74946165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggaaggaaggggcggcGttgtttgggtactgtgcagg	8	9	19	5	2	0	0	0	0	0	0	0	2	0	2	0	7	3	4	0	7	4	3	rs371325788		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:74946165G>A	ENST00000262144.6	-	14	1450	c.1320C>T	c.(1318-1320)aaC>aaT	p.N440N		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	440	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAGGGGCGGCGTTGTTTGGGT	0.537													G|||	1	0.000199681	0	0	5008	,	,		17228	0		0	False		,,,				2504	0.001																0								G		0,4396		0,0,2198	228	203	212		1320	-3.7	0.9	16		212	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR59	NM_030581.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		440/975	74946165	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"WD repeat domain containing"	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1320C>T	16.37:g.74946165G>A			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N440	ENST00000262144.6	37	c.1320	CCDS32488.1	16																																																																																			WDR59	-	superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000103091		0.537	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	-	0	48	0	G	NM_030581		74946165	-1	tier1	-	no_errors	ENST00000262144	ensembl	human	known	74_37	silent	5.56	85	5	SNP	0.969	A	A	74946165	G	A	74946165	2	1	92	1	0	0	0	0	0	0	0	1	17357	1136	40	1		1	WDR59	16	74946165	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	7087576	74946165	15408588	170	26745											
TAF1C	9013	genome.wustl.edu	37	chr16	84216924	84216924	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctacgtctccatgatccaAgaggaaccggctgatctggg	9	8	13	11	2	2	3	0	2	2	1	4	4	3	4	3	4	2	2	3	4	3	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:84216924A>G	ENST00000567759.1	-	5	516	c.334T>C	c.(334-336)Ttg>Ctg	p.L112L	TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000566732.1_Silent_p.L112L|TAF1C_ENST00000541676.1_Silent_p.L45L|TAF1C_ENST00000341690.6_Silent_p.L45L|TAF1C_ENST00000378541.4_Silent_p.L112L	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	112					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCATGATCCAAGAGGAACCGG	0.622																																																	0													73	61	65					16																	84216924		2200	4300	6500	SO:0001819	synonymous_variant	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.334T>C	16.37:g.84216924A>G			B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	NULL	p.L43P	ENST00000567759.1	37	c.128	CCDS32496.1	16																																																																																			TAF1C	-	NULL	ENSG00000103168		0.622	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2	-	0	29	0	A	NM_139353		84216924	-1	tier1	-	no_errors	ENST00000569505	ensembl	human	known	74_37	missense	42.11	22	16	SNP	1.000	G	G	84216924	A	G	84216924	2	3	92	1	0	0	0	0	0	0	0	1	15568	69	3	4		4	TAF1C	16	84216924	Silent	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	9270759	84216924	6137829	171	26746											
USP10	9100	genome.wustl.edu	37	chr16	84779188	84779188	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactaagtattcccctccCgccatatctcccctggtttc	8	12	5	16	1	1	0	0	0	1	0	5	1	3	0	6	1	1	2	6	1	4	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr16:84779188C>T	ENST00000219473.7	+	4	1214	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	USP10_ENST00000570191.1_Silent_p.P371P	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	367					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ATTCCCCTCCCGCCATATCTC	0.512																																																	0													16	17	16					16																	84779188		1835	4087	5922	SO:0001819	synonymous_variant	0			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1101C>T	16.37:g.84779188C>T			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67	p.P371	ENST00000219473.7	37	c.1113	CCDS45537.1	16																																																																																			USP10	-	NULL	ENSG00000103194		0.512	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	-	0	137	0	C			84779188	1	tier1	-	no_errors	ENST00000570191	ensembl	human	known	74_37	silent	45.36	100	83	SNP	0.998	T	T	84779188	C	T	84779188	2	4	92	1	0	0	0	0	0	0	0	1	17090	639	23	1		1	USP10	16	84779188	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	562264	84779188	5575565	172	26747											
SERPINF1	5176	genome.wustl.edu	37	chr17	1674367	1674367	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattcaccgggctctctacTatgacttgatcagcagccca	9	11	7	14	1	4	2	3	2	1	0	5	2	4	2	2	1	3	2	2	1	2	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:1674367T>A	ENST00000254722.4	+	4	491	c.328T>A	c.(328-330)Tat>Aat	p.Y110N	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	110					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GGCTCTCTACTATGACTTGAT	0.547																																																	0													126	120	122					17																	1674367		2203	4300	6503	SO:0001583	missense	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"Serine (or cysteine) peptidase inhibitors"	8824	protein-coding gene	gene with protein product	"pigment epithelium-derived factor", "proliferation-inducing protein 35"	172860	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.328T>A	17.37:g.1674367T>A	ENSP00000254722:p.Tyr110Asn		F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Y110N	ENST00000254722.4	37	c.328	CCDS11012.1	17	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481793	0.84747	.	.	ENSG00000132386	ENST00000254722	D	0.84730	-1.89	5.21	5.21	0.72293	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.90960	0.7158	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92002	0.5611	10	0.87932	D	0	.	15.1389	0.72595	0.0:0.0:0.0:1.0	.	110	P36955	PEDF_HUMAN	N	110	ENSP00000254722:Y110N	ENSP00000254722:Y110N	Y	+	1	0	SERPINF1	1621117	1.000000	0.71417	0.990000	0.47175	0.970000	0.65996	3.954000	0.56708	1.971000	0.57363	0.529000	0.55759	TAT	SERPINF1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000132386		0.547	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4	-	0	80	0	T	NM_002615		1674367	1	tier1	-	no_errors	ENST00000254722	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	A	A	1674367	T	A	1674367	3	1	92	1	0	0	0	0	1	0	0	0	14159	1522	53	5	338	5	SERPINF1	17	1674367	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09		1674367	79520843	173	26748											
C17orf87	388325	genome.wustl.edu	37	chr17	5126688	5126688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagacccacagagacaaCgatgatggccacagctaaga	15	3	10	13	1	0	4	0	1	0	3	0	6	0	4	3	1	2	1	3	1	2	1	rs200696256		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:5126688C>T	ENST00000574081.1	-	2	189	c.85G>A	c.(85-87)Gtt>Att	p.V29I	RP11-333E1.1_ENST00000571689.1_RNA|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.V29I|SCIMP_ENST00000571800.1_Missense_Mutation_p.V29I|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.V29I	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	29					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											ACAGAGACAACGATGATGGCC	0.493													C|||	1	0.000199681	8e-04	0	5008	,	,		21404	0		0	False		,,,				2504	0																0								C	ILE/VAL	2,4144		0,2,2071	288	271	276		85	-11.1	0	17	dbSNP_134	276	0,8424		0,0,4212	no	missense	C17orf87	NM_207103.2	29	0,2,6283	TT,TC,CC		0.0,0.0482,0.0159	benign	29/146	5126688	2,12568	2073	4212	6285	SO:0001583	missense	0			AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"SLP65/SLP76, Csk-interacting membrane protein"	614406	"chromosome 17 open reading frame 87"	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.85G>A	17.37:g.5126688C>T	ENSP00000461269:p.Val29Ile		A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	NULL	p.V29I	ENST00000574081.1	37	c.85	CCDS42242.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	1.532	-0.544114	0.04024	4.82E-4	0.0	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.53	-11.1	0.00147	.	1.998910	0.01941	N	0.041877	T	0.19327	0.0464	N	0.19112	0.55	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.11842	-1.0571	9	0.09338	T	0.73	0.0642	5.0069	0.14293	0.2238:0.4796:0.073:0.2236	.	29;29;29	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	I	29;18	.	ENSP00000382501:V18I	V	-	1	0	C17orf87	5067412	0.000000	0.05858	0.000000	0.03702	0.557000	0.35523	-3.535000	0.00439	-3.597000	0.00135	-1.804000	0.00617	GTT	SCIMP	-	NULL	ENSG00000161929		0.493	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCIMP	HGNC	protein_coding	OTTHUMT00000256425.2		0	84	0	C	NM_207103		5126688	-1			no_errors	ENST00000574081	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.000	T	T	5126688	C	T	5126688	3	4	92	1	0	0	0	0	1	0	0	0	1895	536	19	1	368	1	C17orf87	17	5126688	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	3452321	5126688	76068522	174	26749											
SENP3	26168	genome.wustl.edu	37	chr17	7468306	7468306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaattccttcaaacgtatgGcagcctcatacccctcagca	11	9	6	15	2	3	0	3	0	0	0	4	1	4	0	4	1	4	3	4	1	4	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:7468306G>T	ENST00000429205.2	+	4	1035	c.986G>T	c.(985-987)gGc>gTc	p.G329V	SENP3_ENST00000578868.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000321337.7_Missense_Mutation_p.G329V			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	329						cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				CAAACGTATGGCAGCCTCATA	0.552																																																	0													59	62	61					17																	7468306		1934	4146	6080	SO:0001583	missense	0			AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"SUMO1/sentrin/SMT3 specific protease 3"			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.986G>T	17.37:g.7468306G>T	ENSP00000403712:p.Gly329Val		Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.G329V	ENST00000429205.2	37	c.986		17	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451217	0.43531	.	.	ENSG00000161956	ENST00000321337;ENST00000429205	T;T	0.46063	0.88;0.88	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.51725	-0.8669	10	0.23891	T	0.37	-11.6828	16.8198	0.85743	0.0:0.0:1.0:0.0	.	329	Q9H4L4	SENP3_HUMAN	V	329	ENSP00000314029:G329V;ENSP00000403712:G329V	ENSP00000314029:G329V	G	+	2	0	SENP3	7409030	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.543000	0.90651	2.837000	0.97791	0.591000	0.81541	GGC	SENP3	-	NULL	ENSG00000161956		0.552	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	SENP3	HGNC	protein_coding		-	0	60	0	G	NM_015670		7468306	1	tier1	-	no_errors	ENST00000429205	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	7468306	G	T	7468306	3	4	92	1	0	0	0	0	1	0	0	0	14093	1203	42	3	996	3	SENP3	17	7468306	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2341618	7468306	73726904	175	26750											
TP53	7157	genome.wustl.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	5	1	5	2	4	rs587781991		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	0.572		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50	50	50					17																	7578526		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135F	ENST00000269305.4	37	c.404	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	55	0	C	NM_000546		7578526	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	57.89	16	22	SNP	1.000	A	A	7578526	C	A	7578526	3	1	92	1	0	0	0	0	1	0	0	0	16429	710	25	3	894	3	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	110220	7578526	73616684	176	26751											
CENPV	201161	genome.wustl.edu	37	chr17	16256469	16256471	+	In_Frame_Del	DEL	CGG	CGG	-																															gacgtcggggtcgcgggagtCggcggcggcggcggcggtgg																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:16256469_16256471delCGG	ENST00000299736.4	-	1	342_344	c.280_282delCCG	c.(280-282)ccgdel	p.P94del	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	97	Pro-rich.				ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						TCGCGGGAGTcggcggcggcggc	0.773																																																	0																																										SO:0001651	inframe_deletion	0			AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"proline rich 6"	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.280_282delCCG	17.37:g.16256478_16256480delCGG	ENSP00000299736:p.Pro94del		B2RPK2|Q3L8N5|Q8NFH6	In_Frame_Del	DEL	pfam_GFA/CENP-V,superfamily_Mss4-like	p.P94in_frame_del	ENST00000299736.4	37	c.282_280	CCDS32575.1	17																																																																																			CENPV	-	NULL	ENSG00000166582		0.773	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPV	HGNC	protein_coding	OTTHUMT00000131877.1		0	23	0	CGG	NM_181716		16256471	-1	tier1		no_errors	ENST00000299736	ensembl	human	known	74_37	in_frame_del	12.50	14	2	DEL	0.235:0.239:0.231	-	-	16256471	CGG	-	16256469	7	5	92	1	0	1	0	1	0	0	0	0	3250	871	31	0	556	0	CENPV	17	16256469	In_Frame_Del	DEL	CGG	TCGA-L5-A8NT-01A-11D-A37C-09	8677943	16256469	64938741	177	26752											
NLE1	54475	genome.wustl.edu	37	chr17	33464163	33464163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttgtgtcccagatccGcacactgccatccttggagc	7	10	10	14	1	0	1	0	0	0	1	3	2	3	2	4	1	3	3	4	1	0	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:33464163G>A	ENST00000442241.4	-	7	724	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.R187W	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	229					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGATCCGCACACTGCCA	0.617																																																	0													62	54	57					17																	33464163		2203	4300	6503	SO:0001583	missense	0				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"WD repeat domain containing"	19889	protein-coding gene	gene with protein product	"Notchless gene homolog, (Drosophila)"						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.685C>T	17.37:g.33464163G>A	ENSP00000413572:p.Arg229Trp		O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B	p.R229W	ENST00000442241.4	37	c.685	CCDS11291.1	17	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848474	0.91277	.	.	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.28454	1.61	4.51	4.51	0.55191	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.63637	-0.6592	10	0.87932	D	0	-25.4301	14.7766	0.69736	0.0:0.0:1.0:0.0	.	229	Q9NVX2	NLE1_HUMAN	W	229;205	ENSP00000413572:R229W	ENSP00000413572:R229W	R	-	1	2	NLE1	30488276	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.047000	0.76599	2.358000	0.79984	0.591000	0.81541	CGG	NLE1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	ENSG00000073536		0.617	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLE1	HGNC	protein_coding	OTTHUMT00000256441.2	-	0	71	0	G	NM_018096		33464163	-1	tier1	-	no_errors	ENST00000442241	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.995	A	A	33464163	G	A	33464163	3	1	92	1	0	0	0	0	1	0	0	0	10499	1086	38	1	800	1	NLE1	17	33464163	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	17207694	33464163	47731047	178	26753											
PSMD3	5709	genome.wustl.edu	37	chr17	38153633	38153634	+	Splice_Site	INS	-	-	GTAA																															aggacttggagtctgcagagINSgtaagctctctgctttctgg																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:38153633_38153634insGTAA	ENST00000264639.4	+	11	1701	c.1527_1527insGTAA	c.(1528-1530)gaa>gaGTAAa	p.-510fs	PSMD3_ENST00000541736.1_3'UTR	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AGTCTGCAGAGGTAAGCTCTCT	0.554																																					Ovarian(186;531 2051 6385 19668 48409)												0																																										SO:0001630	splice_region_variant	0			D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"Proteasome (prosome, macropain) subunits"	9560	protein-coding gene	gene with protein product			"tissue specific transplantation antigen 2"	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.1527+1->GTAA	17.37:g.38153634_38153637dupGTAA			B3KMW9|B4DT72|Q96EI2|Q9BQA4	Frame_Shift_Ins	INS	pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.E509fs	ENST00000264639.4	37	c.1527_1528	CCDS11356.1	17																																																																																			PSMD3	-	pfam_26S_Psome_reg_C	ENSG00000108344		0.554	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD3	HGNC	protein_coding	OTTHUMT00000257018.1		0	67	0	-	NM_002809	Frame_Shift_Ins	38153634	1	tier1		no_errors	ENST00000264639	ensembl	human	known	74_37	frame_shift_ins	11.36	78	10	INS	1.000:1.000	GTAA	GTAA	38153634	-	GTAA	38153633	8	5	92	1	0	1	1	0	0	0	1	0	12741	1014	35	0	1569	0	PSMD3	17	38153633	Splice_Site	INS	-	TCGA-L5-A8NT-01A-11D-A37C-09	4689470	38153633	43041577	179	26754											
AOC3	8639	genome.wustl.edu	37	chr17	41004727	41004727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactactttgggggtcttgCggaaacggtgctggtcgtca	6	11	15	9	3	2	0	1	0	1	0	3	1	2	1	0	5	4	2	0	5	2	3	rs367848102		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:41004727C>T	ENST00000308423.2	+	1	1527	c.1367C>T	c.(1366-1368)gCg>gTg	p.A456V	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	456					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGGGGTCTTGCGGAAACGGTG	0.522																																					NSCLC(3;192 220 10664 11501 16477)												0								C	VAL/ALA	0,4406		0,0,2203	135	118	124		1367	-3.9	0	17		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	AOC3	NM_003734.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	456/764	41004727	1,13005	2203	4300	6503	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1367C>T	17.37:g.41004727C>T	ENSP00000312326:p.Ala456Val		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.A456V	ENST00000308423.2	37	c.1367	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.284128	0.01398	0.0	1.16E-4	ENSG00000131471	ENST00000308423	T	0.03951	3.75	5.17	-3.86	0.04230	Copper amine oxidase, C-terminal (3);	1.107710	0.06813	N	0.790733	T	0.02380	0.0073	N	0.11201	0.11	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.46721	-0.9171	10	0.37606	T	0.19	.	3.8656	0.09015	0.101:0.3159:0.0994:0.4837	.	456	Q16853	AOC3_HUMAN	V	456	ENSP00000312326:A456V	ENSP00000312326:A456V	A	+	2	0	AOC3	38258253	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-2.454000	0.01004	-0.502000	0.06596	0.591000	0.81541	GCG	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.522	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	-	0	79	0	C	NM_003734		41004727	1	tier1	-	no_errors	ENST00000308423	ensembl	human	known	74_37	missense	42.11	44	32	SNP	0.000	T	T	41004727	C	T	41004727	3	4	92	1	0	0	0	0	1	0	0	0	728	768	27	1	1369	1	AOC3	17	41004727	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2851094	41004727	40190483	180	26755											
RPRML	388394	genome.wustl.edu	37	chr17	45056320	45056320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcggccccggcgccgccGcccacgccgtccacctcctc	3	3	12	23	7	0	0	0	0	0	0	3	0	2	0	9	3	0	0	9	3	0	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:45056320G>A	ENST00000322329.3	-	1	294	c.54C>T	c.(52-54)ggC>ggT	p.G18G	RP11-156P1.2_ENST00000571841.1_Intron|GOSR2_ENST00000439730.2_Intron|LRRC37A17P_ENST00000570478.1_RNA	NM_203400.4	NP_981945.1	Q8N4K4	RPRML_HUMAN	reprimo-like	18						integral component of membrane (GO:0016021)				lung(1)	1						cggcgccgccgcccACGCCGT	0.776																																																	0																																										SO:0001819	synonymous_variant	0			BC033942	CCDS11508.1	17q21.32	2006-09-26				ENSG00000179673			32422	protein-coding gene	gene with protein product							Standard	NM_203400		Approved	MGC43894	uc002ilb.3	Q8N4K4		ENST00000322329.3:c.54C>T	17.37:g.45056320G>A				Silent	SNP	NULL	p.G18	ENST00000322329.3	37	c.54	CCDS11508.1	17																																																																																			RPRML	-	NULL	ENSG00000179673		0.776	RPRML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRML	HGNC	protein_coding	OTTHUMT00000440919.1	-	0	20	0	G	NM_203400		45056320	-1	tier1	-	no_errors	ENST00000322329	ensembl	human	known	74_37	silent	44.44	15	12	SNP	0.388	A	A	45056320	G	A	45056320	2	1	92	1	0	0	0	0	0	0	0	1	13664	1074	38	1		1	RPRML	17	45056320	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	4051593	45056320	36138890	181	26756											
CDK5RAP3	80279	genome.wustl.edu	37	chr17	46051389	46051389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggccgatactcttcacagCggatgaaggcaagtgtgggc	9	9	14	9	2	2	1	1	1	1	0	2	3	2	2	1	4	2	1	1	4	3	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:46051389C>T	ENST00000338399.4	+	4	383	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	CDK5RAP3_ENST00000536708.2_Missense_Mutation_p.R118W|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	93					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTCTTCACAGCGGATGAAGGC	0.522																																																	0													74	74	74					17																	46051389		1926	4120	6046	SO:0001583	missense	0			AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"ischemic heart CDK5 activator-binding protein C53", "LXXLL/leucine-zipper-containing ARFbinding protein"	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.277C>T	17.37:g.46051389C>T	ENSP00000344683:p.Arg93Trp		B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Missense_Mutation	SNP	pfam_DUF773	p.R93W	ENST00000338399.4	37	c.277	CCDS42356.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198088	0.79015	.	.	ENSG00000108465	ENST00000536708;ENST00000338399	T;T	0.64991	-0.13;-0.13	5.52	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.81992	0.4940	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86000	0.1494	10	0.59425	D	0.04	-15.9348	13.9256	0.63961	0.3609:0.6391:0.0:0.0	.	93	Q96JB5	CK5P3_HUMAN	W	118;93	ENSP00000438886:R118W;ENSP00000344683:R93W	ENSP00000344683:R93W	R	+	1	2	CDK5RAP3	43406388	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.428000	0.34892	1.301000	0.44836	0.655000	0.94253	CGG	CDK5RAP3	-	pfam_DUF773	ENSG00000108465		0.522	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	HGNC	protein_coding	OTTHUMT00000442913.1	-	0	31	0	C	NM_176096		46051389	1	tier1	-	no_errors	ENST00000338399	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	46051389	C	T	46051389	3	4	92	1	0	0	0	0	1	0	0	0	3154	759	27	1	291	1	CDK5RAP3	17	46051389	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	995069	46051389	35143821	182	26757											
MRC2	9902	genome.wustl.edu	37	chr17	60741944	60741944	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcttcagccatggactgCagggctgcctggaggcccag	7	8	13	13	0	3	0	2	0	1	0	3	2	3	2	3	4	3	2	3	4	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:60741944C>T	ENST00000303375.5	+	2	556	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	Y_RNA_ENST00000384652.1_RNA	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	52	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCATGGACTGCAGGGCTGCCT	0.632																																																	0													91	94	93					17																	60741944		2203	4300	6503	SO:0001587	stop_gained	0			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"CD molecules", "C-type lectin domain containing"	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.154C>T	17.37:g.60741944C>T	ENSP00000307513:p.Gln52*		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.Q52*	ENST00000303375.5	37	c.154	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.804178	0.97849	.	.	ENSG00000011028	ENST00000303375	.	.	.	4.7	3.72	0.42706	.	0.479225	0.23362	N	0.049013	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.845	13.5301	0.61617	0.0:0.7015:0.2985:0.0	.	.	.	.	X	52	.	ENSP00000307513:Q52X	Q	+	1	0	MRC2	58095676	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.801000	0.38843	1.181000	0.42912	0.561000	0.74099	CAG	MRC2	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin	ENSG00000011028		0.632	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	-	0	60	0	C			60741944	1	tier1	-	no_errors	ENST00000303375	ensembl	human	known	74_37	nonsense	8.70	42	4	SNP	0.804	T	T	60741944	C	T	60741944	4	4	92	1	0	0	0	0	0	1	0	0	9796	711	25	3	160	3	MRC2	17	60741944	Nonsense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	14690555	60741944	20453266	183	26758											
GALR2	8811	genome.wustl.edu	37	chr17	74070978	74070978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcaccatgaacgtctcggGctgcccaggggccgggaacg	7	4	16	14	5	1	1	0	1	1	0	2	2	1	2	3	5	3	2	3	5	2	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:74070978G>A	ENST00000329003.3	+	1	104	c.14G>A	c.(13-15)gGc>gAc	p.G5D	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	5					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AACGTCTCGGGCTGCCCAGGG	0.746																																																	0													5	6	5					17																	74070978		1956	3745	5701	SO:0001583	missense	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"GPCR / Class A : Galanin receptors"	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.14G>A	17.37:g.74070978G>A	ENSP00000329684:p.Gly5Asp		A5JUU4|Q32MN8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt	p.G5D	ENST00000329003.3	37	c.14	CCDS11739.1	17	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963980	0.53507	.	.	ENSG00000182687	ENST00000329003	T	0.69561	-0.41	3.72	-1.14	0.09741	.	0.752485	0.11184	N	0.590642	T	0.42877	0.1222	N	0.25647	0.755	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.18272	-1.0342	10	0.20519	T	0.43	.	1.1046	0.01691	0.2169:0.2329:0.3912:0.159	.	5	O43603	GALR2_HUMAN	D	5	ENSP00000329684:G5D	ENSP00000329684:G5D	G	+	2	0	GALR2	71582573	0.855000	0.29742	0.001000	0.08648	0.218000	0.24690	2.153000	0.42282	0.052000	0.16007	-0.656000	0.03901	GGC	GALR2	-	prints_GAL2_rcpt	ENSG00000182687		0.746	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	-	0	51	0	G			74070978	1	tier1	-	no_errors	ENST00000329003	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.018	A	A	74070978	G	A	74070978	3	1	92	1	0	0	0	0	1	0	0	0	6253	1203	42	3	16	3	GALR2	17	74070978	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	13329034	74070978	7124232	184	26759											
C1QTNF1	114897	genome.wustl.edu	37	chr17	77042652	77042652	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggctgaagaacaacaTgaaaaatacaggcccagtca	17	5	9	10	0	2	3	2	2	0	1	2	3	2	3	1	2	3	1	1	2	6	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:77042652T>A	ENST00000339142.2	+	4	726	c.171T>A	c.(169-171)caT>caA	p.H57Q	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.H57Q|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.H57Q|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.H57Q|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.H67Q|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.H57Q|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.H57Q|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.H57Q|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000578229.1_5'UTR	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	57					negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AAGAACAACATGAAAAATACA	0.592											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													72	71	71					17																	77042652		2203	4300	6503	SO:0001583	missense	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.171T>A	17.37:g.77042652T>A	ENSP00000340864:p.His57Gln	1172	Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.H67Q	ENST00000339142.2	37	c.201	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	t	10.37	1.332708	0.24167	.	.	ENSG00000173918	ENST00000339142;ENST00000354124;ENST00000392444;ENST00000392445	T;T	0.75821	-0.97;-0.96	4.12	-0.837	0.10766	.	1.043170	0.07607	N	0.924609	T	0.52805	0.1757	L	0.29908	0.895	0.09310	N	1	P;B;B	0.39480	0.675;0.001;0.001	B;B;B	0.33392	0.163;0.001;0.001	T	0.40021	-0.9585	10	0.27082	T	0.32	.	1.8173	0.03103	0.1401:0.3626:0.164:0.3333	.	67;67;57	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	Q	57;67;57;67	ENSP00000340864:H57Q;ENSP00000343230:H67Q	ENSP00000340864:H57Q	H	+	3	2	C1QTNF1	74554247	0.000000	0.05858	0.001000	0.08648	0.821000	0.46438	-1.226000	0.02953	-0.307000	0.08804	0.398000	0.26397	CAT	C1QTNF1	-	NULL	ENSG00000173918		0.592	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2		0	59	0	T	NM_030968		77042652	1			no_errors	ENST00000354124	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.001	A	A	77042652	T	A	77042652	3	1	92	1	0	0	0	0	1	0	0	0	1969	1461	51	5	177	5	C1QTNF1	17	77042652	Missense_Mutation	SNP	T	TCGA-L5-A8NT-01A-11D-A37C-09	2971674	77042652	4152558	185	26760											
C1QTNF1	114897	genome.wustl.edu	37	chr17	77043850	77043850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggagttcgtgaacctctacGaccacttcaacatgttcacc	10	10	7	14	3	3	1	2	1	1	0	4	3	3	2	3	1	3	2	3	1	3	4	rs373450378		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:77043850G>A	ENST00000339142.2	+	5	1081	c.526G>A	c.(526-528)Gac>Aac	p.D176N	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176N|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176N|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GAACCTCTACGACCACTTCAA	0.562																																																	0								G	ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	163	149	154		526,526,280	-4.9	0.9	17		154	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C1QTNF1	NM_030968.2,NM_198593.2,NM_198594.1	23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	176/282,176/282,94/200	77043850	1,13005	2203	4300	6503	SO:0001583	missense	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.526G>A	17.37:g.77043850G>A	ENSP00000340864:p.Asp176Asn		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.D186N	ENST00000339142.2	37	c.556	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	G	13.20	2.165617	0.38217	0.0	1.16E-4	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.20332	2.08;2.08;2.08	4.72	-4.91	0.03085	Tumour necrosis factor-like (2);Complement C1q protein (4);	1.337000	0.04802	N	0.433541	T	0.06188	0.0160	N	0.01493	-0.835	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.003;0.003	T	0.41360	-0.9513	10	0.05959	T	0.93	.	9.5063	0.39048	0.4158:0.0933:0.4909:0.0	.	186;186;176	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	N	176;94;186;176;186	ENSP00000340864:D176N;ENSP00000311265:D94N;ENSP00000343230:D186N	ENSP00000311265:D94N	D	+	1	0	C1QTNF1	74555445	0.998000	0.40836	0.908000	0.35775	0.933000	0.57130	1.054000	0.30455	-0.826000	0.04284	-1.134000	0.01955	GAC	C1QTNF1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000173918		0.562	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2		0	60	0	G	NM_030968		77043850	1			no_errors	ENST00000354124	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.364	A	A	77043850	G	A	77043850	3	1	92	1	0	0	0	0	1	0	0	0	1969	1058	37	1	536	1	C1QTNF1	17	77043850	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1198	77043850	4151360	186	26761											
C17orf56	146705	genome.wustl.edu	37	chr17	79210792	79210792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaccttgagcttcccGtggccggagctgctgtgcag	4	9	15	13	2	1	1	1	1	0	0	2	2	2	2	3	3	4	5	3	3	0	2	rs544653517		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr17:79210792G>A	ENST00000300714.3	-	3	258	c.201C>T	c.(199-201)caC>caT	p.H67H	C17orf89_ENST00000431388.2_5'Flank|ENTHD2_ENST00000575961.1_5'Flank|ENTHD2_ENST00000374769.2_De_novo_Start_OutOfFrame	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	67	ENTH.					cytoplasmic vesicle (GO:0031410)											TGAGCTTCCCGTGGCCGGAGC	0.687													g|||	1	0.000199681	0	0.0014	5008	,	,		15947	0		0	False		,,,				2504	0																0													11	11	11					17																	79210792		2187	4286	6473	SO:0001819	synonymous_variant	0			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 56"	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.201C>T	17.37:g.79210792G>A			Q6ZQU0|Q6ZSQ9	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.H67	ENST00000300714.3	37	c.201	CCDS11779.1	17																																																																																			ENTHD2	-	pfam_Epsin_dom_N,superfamily_ENTH_VHS	ENSG00000167302		0.687	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	-	0	105	0	G	NM_144679		79210792	-1	tier1	-	no_errors	ENST00000300714	ensembl	human	known	74_37	silent	35.34	86	47	SNP	0.792	A	A	79210792	G	A	79210792	2	1	92	1	0	0	0	0	0	0	0	1	1870	1136	40	1		1	C17orf56	17	79210792	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2166942	79210792	1984418	187	26762											
AFG3L2	10939	genome.wustl.edu	37	chr18	12371665	12371665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaatttctgctggcccttGcttgagttgtaacaaatcgg	9	13	11	8	1	1	2	0	1	1	1	2	3	1	2	1	2	3	4	1	2	3	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr18:12371665G>T	ENST00000269143.3	-	2	371	c.140C>A	c.(139-141)gCa>gAa	p.A47E		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	47					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCTGGCCCTTGCTTGAGTTGT	0.363																																																	0													60	59	59					18																	12371665		2203	4300	6503	SO:0001583	missense	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"ATPases / AAA-type"	315	protein-coding gene	gene with protein product		604581	"AFG3 (ATPase family gene 3, yeast)-like 2", "spinocerebellar ataxia 28", "AFG3 ATPase family gene 3-like 2 (yeast)", "AFG3 ATPase family gene 3-like 2 (S. cerevisiae)", "AFG3 ATPase family member 3-like 2 (S. cerevisiae)"	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.140C>A	18.37:g.12371665G>T	ENSP00000269143:p.Ala47Glu		Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH	p.A47E	ENST00000269143.3	37	c.140	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	G	1.624	-0.520699	0.04171	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.92752	-3.1	5.56	1.02	0.19986	Peptidase M41, FtsH (1);	0.824347	0.11187	N	0.590288	T	0.81635	0.4864	L	0.34521	1.04	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.65022	-0.6269	10	0.02654	T	1	0.1428	2.1805	0.03873	0.2055:0.1521:0.4875:0.155	.	47	Q9Y4W6	AFG32_HUMAN	E	47;62	ENSP00000269143:A47E	ENSP00000269143:A47E	A	-	2	0	AFG3L2	12361665	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.431000	0.21444	0.267000	0.21916	0.655000	0.94253	GCA	AFG3L2	-	NULL	ENSG00000141385		0.363	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	-	0	51	0	G	NM_006796		12371665	-1	tier1	-	no_errors	ENST00000269143	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.000	T	T	12371665	G	T	12371665	3	4	92	1	0	0	0	0	1	0	0	0	360	1319	46	3	2317	3	AFG3L2	18	12371665	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		12371665	65705583	188	26763											
DTNA	1837	genome.wustl.edu	37	chr18	32431858	32431858	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgatgcgaataagcagcaaAggcagctgattgctgagcta	13	8	12	8	2	0	2	0	2	0	0	1	4	0	2	0	1	6	6	0	1	4	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr18:32431858A>T	ENST00000399113.3	+	14	1417	c.1417A>T	c.(1417-1419)Agg>Tgg	p.R473W	DTNA_ENST00000399121.5_Missense_Mutation_p.R413W|DTNA_ENST00000269190.7_Missense_Mutation_p.R474W|DTNA_ENST00000283365.9_Missense_Mutation_p.R416W|DTNA_ENST00000597599.1_Missense_Mutation_p.R413W|DTNA_ENST00000269192.7_Missense_Mutation_p.R182W|DTNA_ENST00000597674.1_Missense_Mutation_p.R95W|DTNA_ENST00000556414.3_Missense_Mutation_p.R125W|DTNA_ENST00000598142.1_Missense_Mutation_p.R416W|DTNA_ENST00000595022.1_Missense_Mutation_p.R413W|DTNA_ENST00000596745.1_Missense_Mutation_p.R223W|DTNA_ENST00000601125.1_Missense_Mutation_p.R95W|DTNA_ENST00000444659.1_Missense_Mutation_p.R473W|DTNA_ENST00000599844.1_Missense_Mutation_p.R95W|DTNA_ENST00000269191.6_Missense_Mutation_p.R473W|DTNA_ENST00000598334.1_Missense_Mutation_p.R413W|DTNA_ENST00000591182.1_Missense_Mutation_p.R121W|DTNA_ENST00000598774.1_Missense_Mutation_p.R416W|DTNA_ENST00000348997.5_Missense_Mutation_p.R470W|DTNA_ENST00000399097.3_Missense_Mutation_p.R121W			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	473					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TAAGCAGCAAAGGCAGCTGAT	0.418																																																	0													94	76	82					18																	32431858		2203	4300	6503	SO:0001583	missense	0			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1417A>T	18.37:g.32431858A>T	ENSP00000382064:p.Arg473Trp		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R474W	ENST00000399113.3	37	c.1420	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076182	0.76415	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.67	4.51	0.55191	.	0.044163	0.85682	D	0.000000	D	0.90259	0.6954	M	0.77486	2.375	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.991;1.0;0.999;0.998;0.999;0.995;0.999;0.997;0.999;0.998;0.998;0.998;0.95	D	0.90667	0.4595	10	0.87932	D	0	-18.7478	12.4007	0.55412	0.559:0.441:0.0:0.0	.	125;182;163;223;95;473;473;413;416;121;470;413;424;416;416	B4DIU8;B4DIR0;B7Z3X3;B4DGS6;Q9Y4J8-8;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-6;Q9Y4J8-4;E9PEH8;Q59GK7;Q9Y4J8-2;Q9Y4J8-5	.;.;.;.;.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.	W	416;416;413;474;121;470;473;473;473;473;182;121;125	ENSP00000283365:R416W;ENSP00000269190:R474W;ENSP00000382048:R121W;ENSP00000336682:R470W;ENSP00000405819:R473W;ENSP00000269191:R473W;ENSP00000382064:R473W;ENSP00000269192:R182W;ENSP00000452255:R125W	ENSP00000269190:R474W	R	+	1	2	DTNA	30685856	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	2.062000	0.41413	0.983000	0.38602	0.533000	0.62120	AGG	DTNA	-	pirsf_Distrobrevin	ENSG00000134769		0.418	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	-	0	49	0	A	NM_001390		32431858	1	tier1	-	no_errors	ENST00000269190	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.999	T	T	32431858	A	T	32431858	3	4	92	1	0	0	0	0	1	0	0	0	4802	63	3	5	1506	5	DTNA	18	32431858	Missense_Mutation	SNP	A	TCGA-L5-A8NT-01A-11D-A37C-09	20060193	32431858	45645390	189	26764											
PSTPIP2	9050	genome.wustl.edu	37	chr18	43585474	43585474	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtaagctcttttgtttatgGatagcatccattatgagctc	9	17	8	7	0	1	1	0	1	1	0	3	2	2	2	1	1	3	5	1	1	4	7			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr18:43585474G>T	ENST00000409746.5	-	6	449	c.378C>A	c.(376-378)atC>atA	p.I126I	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Silent_p.I126I	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	126						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTGTTTATGGATAGCATCCA	0.308																																																	0													107	98	101					18																	43585474		2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.378C>A	18.37:g.43585474G>T				Silent	SNP	pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom	p.I126	ENST00000409746.5	37	c.378	CCDS32820.2	18																																																																																			PSTPIP2	-	NULL	ENSG00000152229		0.308	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSTPIP2	HGNC	protein_coding	OTTHUMT00000327522.1		0	53	0	G			43585474	-1			no_errors	ENST00000409746	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.041	T	T	43585474	G	T	43585474	2	4	92	1	0	0	0	0	0	0	0	1	12764	1164	41	3		3	PSTPIP2	18	43585474	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	11153616	43585474	34491774	190	26765											
SALL3	27164	genome.wustl.edu	37	chr18	76753955	76753955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcggggggctgctagactCgatgcaaacgtcggaaacct	9	8	14	10	4	0	1	0	0	0	1	3	3	0	2	1	4	4	4	1	4	3	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr18:76753955C>T	ENST00000537592.2	+	2	1964	c.1964C>T	c.(1963-1965)tCg>tTg	p.S655L	SALL3_ENST00000536229.3_Missense_Mutation_p.S522L|SALL3_ENST00000575389.2_Missense_Mutation_p.S655L	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	655					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGCTAGACTCGATGCAAACG	0.642																																																	0													26	26	26					18																	76753955		2202	4299	6501	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"Zinc fingers, C2H2-type"	10527	protein-coding gene	gene with protein product		605079	"sal (Drosophila)-like 3", "sal-like 3 (Drosophila)"			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1964C>T	18.37:g.76753955C>T	ENSP00000441823:p.Ser655Leu		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S655L	ENST00000537592.2	37	c.1964	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068213	0.20067	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.10960	2.82	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000027	T	0.35770	0.0943	M	0.82323	2.585	0.80722	D	1	P;D	0.89917	0.879;1.0	P;D	0.64506	0.454;0.926	T	0.05801	-1.0863	10	0.31617	T	0.26	-32.6437	19.4129	0.94683	0.0:1.0:0.0:0.0	.	387;655	F5GXY4;Q9BXA9	.;SALL3_HUMAN	L	655;655;387	ENSP00000441823:S655L	ENSP00000299466:S655L	S	+	2	0	SALL3	74854943	1.000000	0.71417	0.773000	0.31616	0.167000	0.22549	5.821000	0.69257	2.652000	0.90054	0.655000	0.94253	TCG	SALL3	-	NULL	ENSG00000256463		0.642	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	-	0	34	0	C	NM_171999		76753955	1	tier1	-	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	50.00	6	6	SNP	1.000	T	T	76753955	C	T	76753955	3	4	92	1	0	0	0	0	1	0	0	0	13857	893	31	1	1970	1	SALL3	18	76753955	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	33168481	76753955	1323293	191	26766											
MRPL54	116541	genome.wustl.edu	37	chr19	3765204	3765204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaggtgcagtgaccagCgaggccctcaaggaccccga	12	3	14	12	2	1	1	1	1	0	0	1	5	1	3	4	4	2	1	4	4	3	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr19:3765204C>T	ENST00000330133.4	+	2	196	c.159C>T	c.(157-159)agC>agT	p.S53S		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	53						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)	p.S53S(1)		breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGACCAGCGAGGCCCTCA	0.567																																																	1	Substitution - coding silent(1)	breast(1)											92	77	82					19																	3765204		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"Mitochondrial ribosomal proteins / large subunits"	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.159C>T	19.37:g.3765204C>T				Silent	SNP	pfam_Ribosomal_L37_mit	p.S53	ENST00000330133.4	37	c.159	CCDS12111.1	19																																																																																			MRPL54	-	NULL	ENSG00000183617		0.567	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL54	HGNC	protein_coding	OTTHUMT00000453443.1	-	0	47	0	C	NM_172251		3765204	1	tier1	-	no_errors	ENST00000330133	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.000	T	T	3765204	C	T	3765204	2	4	92	1	0	0	0	0	0	0	0	1	9856	767	27	1		1	MRPL54	19	3765204	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		3765204	55363779	192	26767											
FDX1L	112812	genome.wustl.edu	37	chr19	10421305	10421305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggggggccatgtctaGcatgtcgtcttccctagggt	6	10	16	9	1	2	0	0	0	2	0	4	2	3	1	2	5	1	1	2	5	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr19:10421305G>A	ENST00000393708.3	-	5	427	c.409C>T	c.(409-411)Cta>Tta	p.L137L	ZGLP1_ENST00000403352.1_5'Flank|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000494368.1_Silent_p.L2L|FDX1L_ENST00000541276.1_Intron|ZGLP1_ENST00000403903.3_5'Flank|CTD-2369P2.10_ENST00000452032.2_Intron	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	137	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCCATGTCTAGCATGTCGTCT	0.637																																																	0													62	59	60					19																	10421305		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.409C>T	19.37:g.10421305G>A			Q8N8B8	Silent	SNP	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin	p.L137	ENST00000393708.3	37	c.409	CCDS32905.1	19																																																																																			FDX1L	-	pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin	ENSG00000267673		0.637	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDX1L	HGNC	protein_coding	OTTHUMT00000280567.2	-	0	54	0	G			10421305	-1	tier1	-	no_errors	ENST00000393708	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	A	A	10421305	G	A	10421305	2	1	92	1	0	0	0	0	0	0	0	1	5827	962	34	3		3	FDX1L	19	10421305	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	6656101	10421305	48707678	193	26768											
KEAP1	9817	genome.wustl.edu	37	chr19	10610187	10610187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccagctgctgcaccaGgaagtcactgcaggcacgga	9	5	15	12	1	1	0	1	0	0	0	2	2	2	2	2	5	4	5	2	5	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr19:10610187G>C	ENST00000171111.5	-	2	1070	c.523C>G	c.(523-525)Ctg>Gtg	p.L175V	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.L175V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	175					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TGCTGCACCAGGAAGTCACTG	0.592																																																	0													144	114	124					19																	10610187		2203	4300	6503	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.523C>G	19.37:g.10610187G>C	ENSP00000171111:p.Leu175Val		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L175V	ENST00000171111.5	37	c.523	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622104	0.66787	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.82803	-1.65;-1.65	4.81	3.54	0.40534	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	M	0.80028	2.48	0.51012	D	0.999906	D	0.89917	1.0	D	0.87578	0.998	D	0.90724	0.4637	10	0.87932	D	0	.	11.2331	0.48925	0.1088:0.0:0.8912:0.0	.	175	Q14145	KEAP1_HUMAN	V	175	ENSP00000171111:L175V;ENSP00000377245:L175V	ENSP00000171111:L175V	L	-	1	2	KEAP1	10471187	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.470000	0.73558	2.232000	0.73038	0.561000	0.74099	CTG	KEAP1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.592	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1		0	23	0	G	NM_012289		10610187	-1			no_errors	ENST00000171111	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	C	C	10610187	G	C	10610187	3	2	92	1	0	0	0	0	1	0	0	0	8168	991	35	5	1371	5	KEAP1	19	10610187	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	188882	10610187	48518796	194	26769											
ZNF441	126068	genome.wustl.edu	37	chr19	11892530	11892530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtcattcaagttacttaCgaatacacgaaagagttcat	15	12	6	8	2	4	1	4	0	0	1	4	3	4	1	0	0	3	2	0	0	6	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr19:11892530C>G	ENST00000357901.4	+	4	1993	c.1891C>G	c.(1891-1893)Cga>Gga	p.R631G	ZNF441_ENST00000454339.2_Missense_Mutation_p.R564G	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	631					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGTTACTTACGAATACACGA	0.408																																																	0													65	59	61					19																	11892530		2203	4300	6503	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1891C>G	19.37:g.11892530C>G	ENSP00000350576:p.Arg631Gly			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R631G	ENST00000357901.4	37	c.1891	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	c	12.28	1.890160	0.33348	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07114	3.22;3.22	1.4	-2.79	0.05841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07413	0.0187	M	0.63208	1.945	0.09310	N	1	P	0.37612	0.602	B	0.37601	0.254	T	0.23084	-1.0198	9	0.28530	T	0.3	.	1.4271	0.02325	0.4964:0.1965:0.1651:0.142	.	631	Q8N8Z8	ZN441_HUMAN	G	587;631;564	ENSP00000350576:R631G;ENSP00000403738:R564G	ENSP00000350576:R631G	R	+	1	2	ZNF441	11753530	0.000000	0.05858	0.000000	0.03702	0.468000	0.32798	-0.106000	0.10890	-0.851000	0.04147	0.305000	0.20034	CGA	ZNF441	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3		0	66	0	C	NM_152355		11892530	1			no_errors	ENST00000357901	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.000	G	G	11892530	C	G	11892530	3	3	92	1	0	0	0	0	1	0	0	0	17962	528	19	5	1905	5	ZNF441	19	11892530	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1282343	11892530	47236453	195	26770											
AP1M1	8907	genome.wustl.edu	37	chr19	16318830	16318830	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctccccaaccgccacagGtgttttccgagtacttcaag	8	10	7	16	2	1	0	1	0	0	0	4	1	4	0	6	1	2	2	6	1	3	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr19:16318830G>A	ENST00000291439.3	+	4	717	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	AP1M1_ENST00000429941.2_Splice_Site_p.V90M|AP1M1_ENST00000444449.2_Splice_Site_p.V90M|AP1M1_ENST00000541844.1_Splice_Site_p.V18M|AP1M1_ENST00000590756.1_Splice_Site_p.V18M	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	90					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACCGCCACAGGTGTTTTCCGA	0.542																																																	0													127	123	125					19																	16318830		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.268-1G>A	19.37:g.16318830G>A			Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.V90M	ENST00000291439.3	37	c.268	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285503	0.59867	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.68624	0.21;0.22;0.19;-0.34	3.92	3.92	0.45320	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	M	0.93420	3.415	0.80722	D	1	P;D;D	0.59767	0.671;0.986;0.986	P;D;D	0.70016	0.72;0.967;0.967	D	0.89518	0.3776	9	.	.	.	-24.3065	14.6746	0.68969	0.0:0.0:1.0:0.0	.	90;90;90	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	M	90;90;18;90	ENSP00000388996:V90M;ENSP00000291439:V90M;ENSP00000445682:V18M;ENSP00000411498:V90M	.	V	+	1	0	AP1M1	16179830	1.000000	0.71417	0.974000	0.42286	0.328000	0.28507	9.218000	0.95166	2.040000	0.60383	0.467000	0.42956	GTG	AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000072958		0.542	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	-	0	48	0	G	NM_032493	Missense_Mutation	16318830	1	tier1	-	no_errors	ENST00000444449	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	16318830	G	A	16318830	5	1	92	1	0	0	0	0	0	0	1	0	734	1275	44	3	282	3	AP1M1	19	16318830	Splice_Site	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	4426300	16318830	42810153	196	26771											
TSHZ3	57616	genome.wustl.edu	37	chr19	31770238	31770240	+	In_Frame_Del	DEL	CTG	CTG	-																															cacagctgctgctgctgctaCtgctgctgctgctgctgccg																										TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr19:31770238_31770240delCTG	ENST00000240587.4	-	2	786_788	c.459_461delCAG	c.(457-462)agcagt>agt	p.153_154SS>S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	153	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					gctgctgctactgctgctgctgc	0.611																																																	0																																										SO:0001651	inframe_deletion	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.459_461delCAG	19.37:g.31770247_31770249delCTG	ENSP00000240587:p.Ser159del		Q9H0G6|Q9P254	In_Frame_Del	DEL	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S157in_frame_del	ENST00000240587.4	37	c.461_459	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.611	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2		0	62	0	CTG	NM_020856		31770240	-1	tier1		no_errors	ENST00000240587	ensembl	human	known	74_37	in_frame_del	9.38	58	6	DEL	1.000:1.000:1.000	-	-	31770240	CTG	-	31770238	7	5	92	1	0	1	0	1	0	0	0	0	16673	565	20	0	2788	0	TSHZ3	19	31770238	In_Frame_Del	DEL	CTG	TCGA-L5-A8NT-01A-11D-A37C-09	15451408	31770238	27358745	197	26772											
GPR32	2854	genome.wustl.edu	37	chr19	51274368	51274368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtggctcctggccgccGccttgtgctctgcgcacctg	1	10	15	15	3	1	0	0	0	1	0	2	0	2	0	5	3	2	3	5	3	0	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr19:51274368G>A	ENST00000270590.4	+	1	648	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	171					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGGCCGCCGCCTTGTGCTC	0.602																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													50	53	52					19																	51274368		2203	4300	6503	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.511G>A	19.37:g.51274368G>A	ENSP00000270590:p.Ala171Thr		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.A171T	ENST00000270590.4	37	c.511	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256975	0.39896	.	.	ENSG00000142511	ENST00000270590	T	0.38401	1.14	2.62	0.214	0.15249	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.48241	0.1489	M	0.70903	2.155	0.09310	N	1	D	0.71674	0.998	P	0.62649	0.905	T	0.33189	-0.9878	9	0.62326	D	0.03	.	3.0514	0.06171	0.2726:0.0:0.5205:0.2069	.	171	O75388	GPR32_HUMAN	T	171	ENSP00000270590:A171T	ENSP00000270590:A171T	A	+	1	0	GPR32	55966180	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.164000	0.09983	-0.016000	0.14127	0.313000	0.20887	GCC	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000142511		0.602	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0	51	0	G			51274368	1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.000	A	A	51274368	G	A	51274368	3	1	92	1	0	0	0	0	1	0	0	0	6714	1087	38	1	513	1	GPR32	19	51274368	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	19504130	51274368	7854615	198	26773											
PPP1R16B	26051	genome.wustl.edu	37	chr20	37531431	37531431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagatgcccagggtgccaCactggtgaggagatgggcca	10	6	16	9	0	0	3	0	1	0	2	0	5	0	3	3	4	2	0	3	4	1	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr20:37531431C>T	ENST00000299824.1	+	6	881	c.692C>T	c.(691-693)aCa>aTa	p.T231I	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.T231I	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	231					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGGGTGCCACACTGGTGAGG	0.612																																																	0													76	67	70					20																	37531431		2203	4300	6503	SO:0001583	missense	0			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	15850	protein-coding gene	gene with protein product	"TGF-beta-inhibited membrane-associated protein", "ankyrin repeat domain protein 4"	613275	"protein phosphatase 1, regulatory (inhibitor) subunit 16B"			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.692C>T	20.37:g.37531431C>T	ENSP00000299824:p.Thr231Ile		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T231I	ENST00000299824.1	37	c.692	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.773861|4.773861	0.90108|0.90108	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.63744	.|-0.06;-0.06	4.14|4.14	4.14|4.14	0.48551|0.48551	.|Ankyrin repeat-containing domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81706|0.81706	0.4879|0.4879	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.994;0.999	D|D	0.86039|0.86039	0.1518|0.1518	5|10	.|0.87932	.|D	.|0	.|.	16.9884|16.9884	0.86347|0.86347	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|231;231	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	Y|I	174|231	.|ENSP00000299824:T231I;ENSP00000362428:T231I	.|ENSP00000299824:T231I	H|T	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36964845|36964845	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.969000|0.969000	0.65631|0.65631	7.413000|7.413000	0.80104|0.80104	2.298000|2.298000	0.77334|0.77334	0.655000|0.655000	0.94253|0.94253	CAC|ACA	PPP1R16B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000101445		0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	-	0	55	0	C	NM_015568		37531431	1	tier1	-	no_errors	ENST00000299824	ensembl	human	known	74_37	missense	35.29	33	18	SNP	1.000	T	T	37531431	C	T	37531431	3	4	92	1	0	0	0	0	1	0	0	0	12408	478	17	3	710	3	PPP1R16B	20	37531431	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		37531431	25494089	199	26774											
NCAM2	4685	genome.wustl.edu	37	chr21	22849776	22849776	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcagcatgccaccaaaGcccaacattattaaaggtaa	17	8	6	10	0	1	0	1	0	0	0	1	1	1	0	3	1	4	2	3	1	7	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr21:22849776G>A	ENST00000400546.1	+	15	2310	c.2061G>A	c.(2059-2061)aaG>aaA	p.K687K	NCAM2_ENST00000284894.7_Silent_p.K545K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	687	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCCACCAAAGCCCAACATTA	0.353																																																	0													81	75	76					21																	22849776		1865	4113	5978	SO:0001819	synonymous_variant	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2061G>A	21.37:g.22849776G>A			A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.K687	ENST00000400546.1	37	c.2061	CCDS42910.1	21																																																																																			NCAM2	-	superfamily_Fibronectin_type3	ENSG00000154654		0.353	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0	78	0	G	NM_004540		22849776	1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.942	A	A	22849776	G	A	22849776	2	1	92	1	0	0	0	0	0	0	0	1	10242	962	34	3		3	NCAM2	21	22849776	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		22849776	25280119	200	26775											
TIAM1	7074	genome.wustl.edu	37	chr21	32595768	32595768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agattccaaggcggcccatgGccactttcgttggtcgactt	7	11	11	12	3	0	1	0	0	0	1	3	2	1	1	3	4	0	1	3	4	1	4			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr21:32595768G>A	ENST00000286827.3	-	9	2420	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A650V|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	650					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCGGCCCATGGCCACTTTCGT	0.478																																																	0													85	88	87					21																	32595768		2203	4300	6503	SO:0001583	missense	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1949C>T	21.37:g.32595768G>A	ENSP00000286827:p.Ala650Val		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.A650V	ENST00000286827.3	37	c.1949	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702157	0.88924	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.47869	0.83;0.83	4.5	4.5	0.54988	.	0.054556	0.64402	D	0.000001	T	0.52500	0.1738	L	0.55481	1.735	0.80722	D	1	D;P;D;D	0.57899	0.981;0.945;0.968;0.968	P;B;B;B	0.47705	0.555;0.267;0.353;0.353	T	0.60850	-0.7181	10	0.87932	D	0	.	17.7573	0.88453	0.0:0.0:1.0:0.0	.	650;650;491;650	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	V	650;491;650	ENSP00000286827:A650V;ENSP00000441570:A650V	ENSP00000286827:A650V	A	-	2	0	TIAM1	31517639	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	7.688000	0.84153	2.496000	0.84212	0.655000	0.94253	GCC	TIAM1	-	NULL	ENSG00000156299		0.478	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	-	0	113	0	G	NM_003253		32595768	-1	tier1	-	no_errors	ENST00000286827	ensembl	human	known	74_37	missense	5.05	94	5	SNP	1.000	A	A	32595768	G	A	32595768	3	1	92	1	0	0	0	0	1	0	0	0	15937	1203	42	3	2910	3	TIAM1	21	32595768	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	9745992	32595768	15534127	201	26776											
FTCD	10841	genome.wustl.edu	37	chr21	47574184	47574184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttggtggaagggcctgcGtccacatccagcagcacgca	8	6	14	13	3	0	0	0	0	0	0	2	1	2	1	3	4	3	4	3	4	1	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr21:47574184G>A	ENST00000291670.5	-	2	160	c.117C>T	c.(115-117)gaC>gaT	p.D39D	FTCD_ENST00000359679.2_Silent_p.D39D|FTCD_ENST00000397748.1_Silent_p.D39D|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Silent_p.D39D|FTCD_ENST00000355384.2_Silent_p.D39D|FTCD_ENST00000397746.3_Silent_p.D39D|FTCD-AS1_ENST00000446649.1_RNA	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	39	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	AAGGGCCTGCGTCCACATCCA	0.682																																																	0													43	40	41					21																	47574184		2201	4296	6497	SO:0001819	synonymous_variant	0			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"formiminotransferase cyclodeaminase"			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.117C>T	21.37:g.47574184G>A			B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.D39	ENST00000291670.5	37	c.117	CCDS13731.1	21																																																																																			FTCD	-	pfam_Formiminotransferase_N,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat	ENSG00000160282		0.682	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	-	0	161	0	G	NM_006657		47574184	-1	tier1	-	no_errors	ENST00000359679	ensembl	human	known	74_37	silent	19.30	92	22	SNP	0.766	A	A	47574184	G	A	47574184	2	1	92	1	0	0	0	0	0	0	0	1	6105	1136	40	1		1	FTCD	21	47574184	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	14978416	47574184	555711	202	26777											
SMARCB1	6598	genome.wustl.edu	37	chr22	24175848	24175848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagactctgacagacgCtgagatggagaagaagatcc	13	6	14	8	1	1	7	0	2	1	6	2	10	2	7	1	2	0	2	1	2	2	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr22:24175848C>T	ENST00000263121.7	+	8	1272	c.1076C>T	c.(1075-1077)gCt>gTt	p.A359V	SMARCB1_ENST00000407422.3_Missense_Mutation_p.A350V|DERL3_ENST00000464023.1_5'Flank|SMARCB1_ENST00000407082.3_Missense_Mutation_p.A313V|SMARCB1_ENST00000344921.6_Missense_Mutation_p.A368V	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	359					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGACAGACGCTGAGATGGAG	0.627			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"		M	3	Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)											142	123	130					22																	24175848		2203	4300	6503	SO:0001583	missense	0			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"sucrose nonfermenting, yeast, homolog-like 1", "integrase interactor 1", "malignant rhabdoid tumor suppressor", "protein phosphatase 1, regulatory subunit 144"	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1076C>T	22.37:g.24175848C>T	ENSP00000263121:p.Ala359Val		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Missense_Mutation	SNP	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	p.A359V	ENST00000263121.7	37	c.1076	CCDS13817.1	22	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869080	0.72065	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.76	4.76	0.60689	.	0.049577	0.85682	D	0.000000	D	0.89389	0.6701	M	0.89785	3.06	0.80722	D	1	D;D;D	0.61080	0.987;0.988;0.989	D;D;D	0.65140	0.913;0.932;0.932	D	0.90932	0.4791	10	0.51188	T	0.08	-18.3539	17.2148	0.86940	0.0:1.0:0.0:0.0	.	368;350;359	G5E975;Q17S11;Q12824	.;.;SNF5_HUMAN	V	368;359;350;313	ENSP00000340883:A368V;ENSP00000263121:A359V;ENSP00000383984:A350V;ENSP00000385226:A313V	ENSP00000263121:A359V	A	+	2	0	SMARCB1	22505848	1.000000	0.71417	0.139000	0.22197	0.261000	0.26267	7.569000	0.82380	2.387000	0.81309	0.543000	0.68304	GCT	SMARCB1	-	pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx	ENSG00000099956		0.627	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCB1	HGNC	protein_coding	OTTHUMT00000319872.1	-	0	38	0	C	NM_003073		24175848	1	tier1	-	no_errors	ENST00000263121	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.996	T	T	24175848	C	T	24175848	3	4	92	1	0	0	0	0	1	0	0	0	14819	797	28	3	1106	3	SMARCB1	22	24175848	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09		24175848	27128718	203	26778											
SEZ6L	23544	genome.wustl.edu	37	chr22	26688433	26688433	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccctcaggagccccGgagagaggcagtcctggcaa	8	5	13	15	1	1	1	1	0	0	1	3	4	3	3	5	4	2	2	5	4	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr22:26688433G>T	ENST00000248933.6	+	2	251	c.156G>T	c.(154-156)ccG>ccT	p.P52P	SEZ6L_ENST00000343706.4_Silent_p.P52P|SEZ6L_ENST00000529632.2_Silent_p.P52P|SEZ6L_ENST00000404234.3_Silent_p.P52P|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.P52P			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	52			P -> L (in dbSNP:rs6004989).		adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGAGCCCCGGAGAGAGGCA	0.597																																																	0													50	44	46					22																	26688433		2203	4300	6503	SO:0001819	synonymous_variant	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"seizure related gene 6 (mouse)-like"				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.156G>T	22.37:g.26688433G>T			A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Silent	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P52	ENST00000248933.6	37	c.156	CCDS13833.1	22																																																																																			SEZ6L	-	NULL	ENSG00000100095		0.597	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	-	0	60	0	G			26688433	1	tier1	-	no_errors	ENST00000248933	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.002	T	T	26688433	G	T	26688433	2	4	92	1	0	0	0	0	0	0	0	1	14188	1103	39	2		2	SEZ6L	22	26688433	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	2512585	26688433	24616133	204	26779											
PES1	23481	genome.wustl.edu	37	chr22	30975882	30975882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggggagaaggagcctggCgttcactgagtcaaacaccc	11	5	13	12	2	2	2	2	1	0	1	2	4	2	3	2	4	2	1	2	4	2	1	rs147644381		TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr22:30975882C>A	ENST00000405677.1	-	14	1736	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	PES1_ENST00000354694.7_Missense_Mutation_p.A404S|PES1_ENST00000402284.3_Missense_Mutation_p.A387S|PES1_ENST00000402281.1_Missense_Mutation_p.A265S|PES1_ENST00000335214.6_Missense_Mutation_p.A399S	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						AGGAGCCTGGCGTTCACTGAG	0.592																																																	0													89	94	92					22																	30975882		2203	4300	6503	SO:0001583	missense	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)"			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.793G>T	22.37:g.30975882C>A	ENSP00000385654:p.Ala265Ser			Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.A404S	ENST00000405677.1	37	c.1210		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.844504|4.844504	0.91197|0.91197	.|.	.|.	ENSG00000100029|ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214|ENST00000441668	T;T;T;T;T|.	0.33865|.	1.39;1.39;1.39;1.39;1.39|.	4.89|4.89	4.89|4.89	0.63831|0.63831	BRCT (3);|.	0.055621|.	0.64402|.	D|.	0.000001|.	T|T	0.71467|0.71467	0.3343|0.3343	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.99;1.0;0.999|.	D;P;D;D|.	0.74674|.	0.948;0.9;0.984;0.948|.	T|T	0.70241|0.70241	-0.4926|-0.4926	10|5	0.56958|.	D|.	0.05|.	-27.0472|-27.0472	17.6636|17.6636	0.88198|0.88198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	404;387;399;404|.	B2RDF2;B5MCF9;O00541-2;O00541|.	.;.;.;PESC_HUMAN|.	S|L	404;265;265;387;399|10	ENSP00000346725:A404S;ENSP00000384366:A265S;ENSP00000385654:A265S;ENSP00000384252:A387S;ENSP00000334612:A399S|.	ENSP00000334612:A399S|.	A|R	-|-	1|2	0|0	PES1|PES1	29305882|29305882	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.967000|0.967000	0.64934|0.64934	4.648000|4.648000	0.61425|0.61425	2.272000|2.272000	0.75746|0.75746	0.655000|0.655000	0.94253|0.94253	GCC|CGC	PES1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000100029		0.592	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	-	0	62	0	C	NM_014303		30975882	-1	tier1	-	no_errors	ENST00000354694	ensembl	human	known	74_37	missense	43.06	41	31	SNP	1.000	A	A	30975882	C	A	30975882	3	1	92	1	0	0	0	0	1	0	0	0	11772	768	27	2	572	2	PES1	22	30975882	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	4287449	30975882	20328684	205	26780											
ELFN2	114794	genome.wustl.edu	37	chr22	37769599	37769599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgatgtacttggagtcgCccttagccagccctgtggcg	5	11	12	13	3	1	0	0	0	1	0	3	2	1	1	3	2	3	1	3	2	2	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr22:37769599C>T	ENST00000402918.2	-	3	2761	c.1976G>A	c.(1975-1977)gGc>gAc	p.G659D	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	659					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTTGGAGTCGCCCTTAGCCAG	0.706																																																	0													8	8	8					22																	37769599		2158	4205	6363	SO:0001583	missense	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Fibronectin type III domain containing"	29396	protein-coding gene	gene with protein product			"leucine rich repeat containing 62", "extracellular leucine-rich repeat and fibronectin type III containing 2", "extracellular leucine-rich repeat and fibronectin type III domain containing 2", "protein phosphatase 1, regulatory subunit 29"	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1976G>A	22.37:g.37769599C>T	ENSP00000385277:p.Gly659Asp		Q96PY3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor	p.G659D	ENST00000402918.2	37	c.1976	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	C	1.254	-0.617627	0.03663	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.49432	0.78;0.78	4.65	3.62	0.41486	.	0.725668	0.12689	N	0.447309	T	0.26702	0.0653	N	0.08118	0	0.20307	N	0.999918	B	0.29716	0.255	B	0.16722	0.016	T	0.06643	-1.0815	10	0.21540	T	0.41	-19.3756	14.28	0.66205	0.0:0.6089:0.391:0.0	.	659	Q5R3F8	PPR29_HUMAN	D	659	ENSP00000300147:G659D;ENSP00000385277:G659D	ENSP00000300147:G659D	G	-	2	0	ELFN2	36099545	0.995000	0.38212	0.997000	0.53966	0.369000	0.29798	1.479000	0.35453	0.918000	0.36919	-0.311000	0.09066	GGC	ELFN2	-	NULL	ENSG00000166897		0.706	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	-	0	28	0	C	NM_052906		37769599	-1	tier1	-	no_errors	ENST00000402918	ensembl	human	known	74_37	missense	64.29	5	9	SNP	0.595	T	T	37769599	C	T	37769599	3	4	92	1	0	0	0	0	1	0	0	0	5074	739	26	3	490	3	ELFN2	22	37769599	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	6793717	37769599	13534967	206	26781											
SOX10	6663	genome.wustl.edu	37	chr22	38379482	38379482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgttcatgggccgcttgaCgtgcggcttgcttttgctgg	2	13	16	10	4	1	1	1	1	0	0	1	1	1	1	1	4	3	5	1	4	0	5			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr22:38379482C>T	ENST00000396884.2	-	2	592	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Missense_Mutation_p.V104I|SOX10_ENST00000470555.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	104					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGCCGCTTGACGTGCGGCTTG	0.667																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)												0													51	39	43					22																	38379482		2203	4299	6502	SO:0001583	missense	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"SRY (sex determining region Y)-boxes"	11190	protein-coding gene	gene with protein product	"dominant megacolon, mouse, human homolog of"	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.310G>A	22.37:g.38379482C>T	ENSP00000380093:p.Val104Ile		B4DV62|Q6FHW7	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.V104I	ENST00000396884.2	37	c.310	CCDS13964.1	22	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304212	0.81136	.	.	ENSG00000100146	ENST00000396884;ENST00000360880;ENST00000416937;ENST00000427770	D;D;D	0.97811	-4.55;-4.55;-4.55	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000001	D	0.95965	0.8686	N	0.04373	-0.215	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.95423	0.8509	9	.	.	.	.	17.1363	0.86740	0.0:1.0:0.0:0.0	.	104	P56693	SOX10_HUMAN	I	104	ENSP00000380093:V104I;ENSP00000354130:V104I;ENSP00000414853:V104I	.	V	-	1	0	SOX10	36709428	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.244000	0.78228	2.265000	0.75225	0.462000	0.41574	GTC	SOX10	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000100146		0.667	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	-	0	147	0	C	NM_006941		38379482	-1	tier1	-	no_errors	ENST00000360880	ensembl	human	known	74_37	missense	26.88	117	43	SNP	1.000	T	T	38379482	C	T	38379482	3	4	92	1	0	0	0	0	1	0	0	0	14986	536	19	1	1102	1	SOX10	22	38379482	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	609883	38379482	12925084	207	26782											
CACNA1I	8911	genome.wustl.edu	37	chr22	40037141	40037141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccaacccccacaagggtgCcatcaactttgacaacatcg	12	6	7	16	2	1	1	1	1	0	0	2	1	1	1	4	1	4	0	4	1	4	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chr22:40037141C>T	ENST00000402142.3	+	6	1010	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	CACNA1I_ENST00000407673.1_Missense_Mutation_p.A337V|CACNA1I_ENST00000401624.1_Missense_Mutation_p.A337V|CACNA1I_ENST00000400164.3_Missense_Mutation_p.A337V|CACNA1I_ENST00000336649.4_Missense_Mutation_p.A337V|CACNA1I_ENST00000404898.1_Missense_Mutation_p.A337V	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	337					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CACAAGGGTGCCATCAACTTT	0.607																																																	0													68	71	70					22																	40037141		2071	4194	6265	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1010C>T	22.37:g.40037141C>T	ENSP00000385019:p.Ala337Val		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.A337V	ENST00000402142.3	37	c.1010	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.150937	0.94645	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.21	5.21	0.72293	Ion transport (1);	0.056187	0.64402	D	0.000001	D	0.97974	0.9333	M	0.66439	2.03	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.97274	0.9913	10	0.20519	T	0.43	.	18.7618	0.91855	0.0:1.0:0.0:0.0	.	337;337;337;337	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	V	337	ENSP00000385019:A337V;ENSP00000384093:A337V;ENSP00000383887:A337V;ENSP00000385680:A337V;ENSP00000337829:A337V;ENSP00000383028:A337V	ENSP00000337829:A337V	A	+	2	0	CACNA1I	38367087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.388000	0.79795	2.445000	0.82738	0.563000	0.77884	GCC	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	-	0	40	0	C	NM_001003406		40037141	1	tier1	-	no_errors	ENST00000336649	ensembl	human	known	74_37	missense	8.89	40	4	SNP	1.000	T	T	40037141	C	T	40037141	3	4	92	1	0	0	0	0	1	0	0	0	2553	739	26	3	1032	3	CACNA1I	22	40037141	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1657659	40037141	11267425	208	26783											
DMD	1756	genome.wustl.edu	37	chrX	31341748	31341748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactttgtttggcgagatgGctctctcccagggaccctgg	5	11	13	12	1	1	1	0	0	1	1	3	3	2	2	2	4	0	3	2	4	0	2			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chrX:31341748G>A	ENST00000357033.4	-	62	9397	c.9191C>T	c.(9190-9192)gCc>gTc	p.A3064V	DMD_ENST00000343523.2_Missense_Mutation_p.A604V|DMD_ENST00000541735.1_Missense_Mutation_p.A604V|DMD_ENST00000474231.1_Missense_Mutation_p.A604V|DMD_ENST00000378707.3_Missense_Mutation_p.A604V|DMD_ENST00000359836.1_Missense_Mutation_p.A604V|DMD_ENST00000378677.2_Missense_Mutation_p.A3060V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3064	Interaction with SYNM. {ECO:0000250}.|WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGCGAGATGGCTCTCTCCCA	0.408																																																	0													79	66	71					X																	31341748		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9191C>T	X.37:g.31341748G>A	ENSP00000354923:p.Ala3064Val		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.A3064V	ENST00000357033.4	37	c.9191	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053438	0.75960	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231	D;D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.49	5.49	0.81192	WW/Rsp5/WWP (6);	0.000000	0.34603	U	0.003833	D	0.89522	0.6739	M	0.75085	2.285	0.51012	D	0.999902	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.98;0.98;0.996;0.996;0.996;0.981;0.976;0.999	D;D;D;P;P;D;D;D;P;B;D	0.78314	0.979;0.991;0.991;0.663;0.663;0.911;0.916;0.916;0.514;0.379;0.95	D	0.89228	0.3575	9	.	.	.	.	18.6129	0.91293	0.0:0.0:1.0:0.0	.	3056;3064;3060;1723;1720;604;604;604;604;604;2941	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.	V	3056;1723;1720;760;3060;3064;604;604;3064;2941;604;604;604	ENSP00000350765:A760V;ENSP00000367948:A3060V;ENSP00000354923:A3064V;ENSP00000352894:A604V;ENSP00000340057:A604V;ENSP00000367979:A604V;ENSP00000444119:A604V;ENSP00000417123:A604V	.	A	-	2	0	DMD	31251669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.004000	0.76317	2.426000	0.82243	0.600000	0.82982	GCC	DMD	-	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pirsf_Dystrophin/utrophin,pfscan_WW_dom	ENSG00000198947		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	66	0	G	NM_004006		31341748	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A	A	31341748	G	A	31341748	3	1	92	1	0	0	0	0	1	0	0	0	4594	1203	42	3	2052	3	DMD	23	31341748	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09		31341748	123928812	209	26784											
ARAF	369	genome.wustl.edu	37	chrX	47426444	47426444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccagcccagccagcGtgtcctcggggaggaagtcc	7	4	15	15	2	0	0	0	0	0	0	3	3	2	3	6	4	4	0	6	4	1	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chrX:47426444G>A	ENST00000377045.4	+	9	981	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	263					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CCCAGCCAGCGTGTCCTCGGG	0.617																																																	0													29	29	29					X																	47426444		2203	4300	6503	SO:0001583	missense	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.787G>A	X.37:g.47426444G>A	ENSP00000366244:p.Val263Met		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.V263M	ENST00000377045.4	37	c.787	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	g	13.38	2.218636	0.39201	.	.	ENSG00000078061	ENST00000377045	T	0.74842	-0.88	5.32	-0.911	0.10507	.	1.441670	0.03991	N	0.294875	T	0.58481	0.2125	L	0.34521	1.04	0.45097	D	0.998119	B;B	0.33238	0.403;0.003	B;B	0.22880	0.042;0.004	T	0.26710	-1.0095	10	0.35671	T	0.21	.	4.6853	0.12755	0.4367:0.0:0.4194:0.1439	.	263;129	P10398;B4DV85	ARAF_HUMAN;.	M	263	ENSP00000366244:V263M	ENSP00000366244:V263M	V	+	1	0	ARAF	47311388	0.014000	0.17966	0.008000	0.14137	0.983000	0.72400	0.257000	0.18369	-0.649000	0.05430	0.417000	0.27973	GTG	ARAF	-	NULL	ENSG00000078061		0.617	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	-	0	44	0	G			47426444	1	tier1	-	no_errors	ENST00000377045	ensembl	human	known	74_37	missense	7.69	47	4	SNP	0.002	A	A	47426444	G	A	47426444	3	1	92	1	0	0	0	0	1	0	0	0	837	1145	40	1	817	1	ARAF	23	47426444	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	16084696	47426444	107844116	210	26785											
PQBP1	10084	genome.wustl.edu	37	chrX	48755853	48755853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggcatcctcaaacatctgGagcctggtgagacagctaaa	13	7	11	10	0	2	1	1	1	1	1	3	4	3	2	2	3	3	2	2	3	3	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chrX:48755853G>A	ENST00000376563.1	+	2	261	c.61G>A	c.(61-63)Gag>Aag	p.E21K	PQBP1_ENST00000218224.4_Missense_Mutation_p.E21K|PQBP1_ENST00000376566.4_Missense_Mutation_p.E21K|TIMM17B_ENST00000472645.1_5'Flank|PQBP1_ENST00000247140.4_Missense_Mutation_p.E21K|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000376548.5_Missense_Mutation_p.E21K|TIMM17B_ENST00000396779.3_5'Flank|TIMM17B_ENST00000465150.2_5'Flank|PQBP1_ENST00000396763.1_Missense_Mutation_p.E21K|PQBP1_ENST00000447146.2_Missense_Mutation_p.E21K|TIMM17B_ENST00000495490.2_5'Flank|TIMM17B_ENST00000376582.3_5'Flank	NM_001032381.1|NM_001032382.1|NM_001032383.1|NM_001167989.1	NP_001027553.1|NP_001027554.1|NP_001027555.1|NP_001161461.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	21					alternative mRNA splicing, via spliceosome (GO:0000380)|neuron projection development (GO:0031175)|regulation of dendrite morphogenesis (GO:0048814)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|neuronal ribonucleoprotein granule (GO:0071598)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ribonucleoprotein complex binding (GO:0043021)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAACATCTGGAGCCTGGTGA	0.542																																																	0													109	79	89					X																	48755853		2203	4300	6503	SO:0001583	missense	0			AJ005893	CCDS14309.1, CCDS55412.1	Xp11.23	2014-01-31			ENSG00000102103	ENSG00000102103			9330	protein-coding gene	gene with protein product		300463	"Sutherland-Haan X-linked mental retardation syndrome", "mental retardation, X-linked 55", "mental retardation, X-linked 2 (non-dysmorphic)"	RENS1, MRXS8, SHS, MRX55, MRX2		9875212, 15024694, 14634649	Standard	NM_144495		Approved		uc004dlg.3	O60828	OTTHUMG00000024128	ENST00000376563.1:c.61G>A	X.37:g.48755853G>A	ENSP00000365747:p.Glu21Lys		Q4VY25|Q4VY26|Q4VY27|Q4VY29|Q4VY30|Q4VY34|Q4VY35|Q4VY36|Q4VY37|Q4VY38|Q9GZP2|Q9GZU4|Q9GZZ4	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.E21K	ENST00000376563.1	37	c.61	CCDS14309.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.353662	0.95830	.	.	ENSG00000102103	ENST00000376563;ENST00000376566;ENST00000447146;ENST00000376548;ENST00000247140;ENST00000218224;ENST00000396763;ENST00000443648	T;T;T;T;T;T;T	0.78364	-1.15;-1.09;-1.15;-1.09;-1.15;-1.15;-1.17	6.08	6.08	0.98989	.	0.117743	0.56097	D	0.000027	D	0.83899	0.5354	L	0.55990	1.75	0.42742	D	0.993742	B;D;B;D;P	0.62365	0.299;0.976;0.005;0.991;0.948	B;P;B;P;P	0.61722	0.107;0.6;0.003;0.893;0.452	T	0.82864	-0.0246	10	0.38643	T	0.18	-31.8653	16.2759	0.82642	0.0:0.0:1.0:0.0	.	21;21;21;21;21	O60828-5;O60828-2;O60828-4;O60828-3;O60828	.;.;.;.;PQBP1_HUMAN	K	21	ENSP00000365747:E21K;ENSP00000365750:E21K;ENSP00000391759:E21K;ENSP00000247140:E21K;ENSP00000218224:E21K;ENSP00000379985:E21K;ENSP00000414861:E21K	ENSP00000218224:E21K	E	+	1	0	PQBP1	48640797	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.032000	0.70918	2.562000	0.86427	0.600000	0.82982	GAG	PQBP1	-	NULL	ENSG00000102103		0.542	PQBP1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	PQBP1	HGNC	protein_coding	OTTHUMT00000060777.1	-	0	29	0	G	NM_001032381.1		48755853	1	tier1	-	no_errors	ENST00000218224	ensembl	human	known	74_37	missense	53.33	7	8	SNP	1.000	A	A	48755853	G	A	48755853	3	1	92	1	0	0	0	0	1	0	0	0	12459	1175	41	3	63	3	PQBP1	23	48755853	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	1329409	48755853	106514707	211	26786											
BMP15	9210	genome.wustl.edu	37	chrX	50659106	50659106	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcatggcacttcatcCttggacattgccttcttgtt	5	16	8	12	0	3	0	1	0	2	0	4	1	4	1	2	3	1	3	2	3	0	6			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chrX:50659106C>A	ENST00000252677.3	+	2	678	c.678C>A	c.(676-678)tcC>tcA	p.S226S		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	226					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GCACTTCATCCTTGGACATTG	0.453																																																	0													146	115	126					X																	50659106		2203	4299	6502	SO:0001819	synonymous_variant	0			AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"Bone morphogenetic proteins"	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.678C>A	X.37:g.50659106C>A			Q17RM6|Q5JST1|Q9UMS1	Silent	SNP	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.S226	ENST00000252677.3	37	c.678	CCDS14334.1	X																																																																																			BMP15	-	NULL	ENSG00000130385		0.453	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	HGNC	protein_coding	OTTHUMT00000056572.1	-	0	49	0	C	NM_005448		50659106	1	tier1	-	no_errors	ENST00000252677	ensembl	human	known	74_37	silent	60.87	18	28	SNP	0.000	A	A	50659106	C	A	50659106	2	1	92	1	0	0	0	0	0	0	0	1	1460	668	24	3		3	BMP15	23	50659106	Silent	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	1903253	50659106	104611454	212	26787											
HUWE1	10075	genome.wustl.edu	37	chrX	53602169	53602169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggaggcaccatctgcagCaaagacctgactctgaagaa	14	6	11	10	0	2	4	0	2	2	2	2	5	2	5	2	2	2	3	2	2	3	0			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chrX:53602169C>T	ENST00000342160.3	-	45	6500	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	HUWE1_ENST00000262854.6_Missense_Mutation_p.A2015T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2015					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCATCTGCAGCAAAGACCTGA	0.478																																																	0													51	45	47					X																	53602169		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.6043G>A	X.37:g.53602169C>T	ENSP00000340648:p.Ala2015Thr		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A2015T	ENST00000342160.3	37	c.6043	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.44|15.44	2.833353|2.833353	0.50951|0.50951	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.39406|.	1.08;1.08|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.532900|.	0.18935|.	N|.	0.127106|.	T|T	0.41534|0.41534	0.1163|0.1163	N|N	0.12182|0.12182	0.205|0.205	0.49687|0.49687	D|D	0.99981|0.99981	B;B|.	0.28713|.	0.141;0.22|.	B;B|.	0.20184|.	0.012;0.028|.	T|T	0.32877|0.32877	-0.9890|-0.9890	10|5	0.09843|.	T|.	0.71|.	.|.	14.819|14.819	0.70055|0.70055	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2015;2015|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	T|Y	2015|1048	ENSP00000340648:A2015T;ENSP00000262854:A2015T|.	ENSP00000262854:A2015T|.	A|C	-|-	1|2	0|0	HUWE1|HUWE1	53618894|53618894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.519000|4.519000	0.60517|0.60517	2.198000|2.198000	0.70561|0.70561	0.600000|0.600000	0.82982|0.82982	GCT|TGC	HUWE1	-	NULL	ENSG00000086758		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	64	0	C	XM_497119		53602169	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	T	T	53602169	C	T	53602169	3	4	92	1	0	0	0	0	1	0	0	0	7488	710	25	3	7237	3	HUWE1	23	53602169	Missense_Mutation	SNP	C	TCGA-L5-A8NT-01A-11D-A37C-09	2943063	53602169	101668391	213	26788											
TAF1	6872	genome.wustl.edu	37	chrX	70601714	70601714	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgctcaggccatgccccgGctgttggaacctcctgtttt	5	12	11	13	1	1	0	1	0	0	0	2	2	2	1	5	3	3	4	5	3	1	3			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chrX:70601714G>T	ENST00000373790.4	+	9	1530	c.1479G>T	c.(1477-1479)cgG>cgT	p.R493R	TAF1_ENST00000449580.1_Silent_p.R493R|TAF1_ENST00000276072.3_Silent_p.R514R|TAF1_ENST00000423759.1_Silent_p.R514R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	493					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCATGCCCCGGCTGTTGGAAC	0.453																																																	0													103	87	93					X																	70601714		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"Chromatin-modifying enzymes / K-acetyltransferases"	11535	protein-coding gene	gene with protein product		313650	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD", "dystonia 3 (with Parkinsonism)"	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1479G>T	X.37:g.70601714G>T			A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R493	ENST00000373790.4	37	c.1479	CCDS35325.1	X																																																																																			TAF1	-	pirsf_TAF1_animal	ENSG00000147133		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2		0	51	0	G	NM_004606		70601714	1			no_errors	ENST00000449580	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.000	T	T	70601714	G	T	70601714	2	4	92	1	0	0	0	0	0	0	0	1	15560	1190	42	3		3	TAF1	23	70601714	Silent	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	16999545	70601714	84668846	214	26789											
MAGEC1	9947	genome.wustl.edu	37	chrX	140995192	140995192	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtcctcagagccctcctGaggggatgcactcccaatct	9	9	9	14	0	2	2	1	1	1	1	5	3	5	3	4	2	2	1	4	2	2	1			TCGA-L5-A8NT-01A-11D-A37C-09	TCGA-L5-A8NT-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4e143e72-fabb-477f-a577-53f0ab1c2a5c	5a9e8a71-e4fd-4699-bd7a-a02771c76ebc	g.chrX:140995192G>C	ENST00000285879.4	+	4	2288	c.2002G>C	c.(2002-2004)Gag>Cag	p.E668Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	668								p.E668K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCCTCCTGAGGGGATGCA	0.577										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	lung(1)											92	96	95					X																	140995192		2203	4300	6503	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"cancer/testis antigen family 7, member 1"	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2002G>C	X.37:g.140995192G>C	ENSP00000285879:p.Glu668Gln		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E668Q	ENST00000285879.4	37	c.2002	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	g	9.584	1.124344	0.20959	.	.	ENSG00000155495	ENST00000285879	T	0.03663	3.85	0.901	-1.8	0.07907	.	.	.	.	.	T	0.01353	0.0044	N	0.08118	0	0.80722	D	1	P	0.42993	0.797	B	0.25759	0.063	T	0.60964	-0.7158	9	0.66056	D	0.02	.	5.5888	0.17289	1.0E-4:0.3442:0.6557:0.0	.	668	O60732	MAGC1_HUMAN	Q	668	ENSP00000285879:E668Q	ENSP00000285879:E668Q	E	+	1	0	MAGEC1	140822858	0.002000	0.14202	0.038000	0.18304	0.038000	0.13279	-2.563000	0.00919	0.158000	0.19367	0.160000	0.16472	GAG	MAGEC1	-	NULL	ENSG00000155495		0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0	43	0	G	NM_005462		140995192	1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	33.93	37	19	SNP	0.918	C	C	140995192	G	C	140995192	3	2	92	1	0	0	0	0	1	0	0	0	9218	1291	45	5	2008	5	MAGEC1	23	140995192	Missense_Mutation	SNP	G	TCGA-L5-A8NT-01A-11D-A37C-09	70393478	140995192	14275368	215	26790											
CHD5	26038	genome.wustl.edu	37	chr1	6211155	6211155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagcattcggagcgcaCggaggcactgtggatgctgg	8	7	17	9	3	0	1	0	0	0	1	1	4	0	4	0	5	4	5	0	5	0	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:6211155C>T	ENST00000262450.3	-	7	1030	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	CHD5_ENST00000378021.1_De_novo_Start_InFrame	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCGGAGCGCACGGAGGCACTG	0.592																																																	0													97	86	90					1																	6211155		2203	4300	6503	SO:0001583	missense	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"Zinc fingers, PHD-type"	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.931G>A	1.37:g.6211155C>T	ENSP00000262450:p.Val311Met		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V311M	ENST00000262450.3	37	c.931	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	c	11.13	1.547218	0.27652	.	.	ENSG00000116254	ENST00000262450	D	0.90955	-2.76	4.0	0.962	0.19643	Zinc finger, FYVE/PHD-type (1);	0.187417	0.33916	N	0.004437	D	0.84192	0.5418	L	0.54323	1.7	0.80722	D	1	B	0.33883	0.43	B	0.19946	0.027	T	0.78679	-0.2110	10	0.45353	T	0.12	-13.1073	10.1389	0.42723	0.0:0.6859:0.0:0.3141	.	311	Q8TDI0	CHD5_HUMAN	M	311	ENSP00000262450:V311M	ENSP00000262450:V311M	V	-	1	0	CHD5	6133742	0.754000	0.28360	0.964000	0.40570	0.850000	0.48378	1.499000	0.35671	0.308000	0.22923	-0.389000	0.06534	GTG	CHD5	-	superfamily_Znf_FYVE_PHD	ENSG00000116254		0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	-	0	32	0	C	NM_015557		6211155	-1	tier1	-	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.892	T	T	6211155	C	T	6211155	3	4	93	1	0	0	0	0	1	0	0	0	3335	536	19	1	5073	1	CHD5	1	6211155	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		6211155	243039466	1	26791											
PTCHD2	57540	genome.wustl.edu	37	chr1	11561238	11561238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttcgggcttctggagtacCctgggctgggccttcaccaa	5	10	13	13	1	2	0	1	0	1	0	3	1	2	1	3	4	1	4	3	4	2	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:11561238C>A	ENST00000294484.6	+	2	327	c.189C>A	c.(187-189)acC>acA	p.T63T	PTCHD2_ENST00000389575.3_Silent_p.T63T	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	63					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTGGAGTACCCTGGGCTGGG	0.662																																																	0													57	60	59					1																	11561238		1990	4162	6152	SO:0001819	synonymous_variant	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.189C>A	1.37:g.11561238C>A			Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.T63	ENST00000294484.6	37	c.189	CCDS41247.1	1																																																																																			PTCHD2	-	NULL	ENSG00000204624		0.662	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	60	0	C	XM_052561		11561238	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	silent	20.83	38	10	SNP	0.664	A	A	11561238	C	A	11561238	2	1	93	1	0	0	0	0	0	0	0	1	12775	610	22	3		3	PTCHD2	1	11561238	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	5350083	11561238	237689383	2	26792											
PRAMEF4	400735	genome.wustl.edu	37	chr1	12942190	12942190	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcacccatgggccatagcTtcagaccaaaccatccagaa	15	5	7	14	0	1	2	1	0	0	2	2	2	2	2	5	1	3	2	5	1	4	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:12942190T>C	ENST00000235349.5	-	3	430	c.360A>G	c.(358-360)gaA>gaG	p.E120E		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	120					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCATAGCTTCAGACCAAA	0.488																																																	0													24	29	27					1																	12942190		1300	2494	3794	SO:0001819	synonymous_variant	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.360A>G	1.37:g.12942190T>C			Q5LJB5	Silent	SNP	NULL	p.E120	ENST00000235349.5	37	c.360	CCDS30592.1	1																																																																																			PRAMEF4	-	NULL	ENSG00000243073		0.488	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	-	0	282	0	T	NM_001009611		12942190	-1	tier1	-	no_errors	ENST00000235349	ensembl	human	known	74_37	silent	8.89	205	20	SNP	0.033	C	C	12942190	T	C	12942190	2	2	93	1	0	0	0	0	0	0	0	1	12479	1606	56	4		4	PRAMEF4	1	12942190	Silent	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09	1380952	12942190	236308431	3	26793											
HPCA	3208	genome.wustl.edu	37	chr1	33354763	33354763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcgggagttcatcattgcGctgagcgtgacctcgcgcgg	5	11	14	11	6	2	2	2	2	0	0	4	3	2	3	1	2	2	2	1	2	0	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:33354763G>A	ENST00000373467.3	+	2	366	c.264G>A	c.(262-264)gcG>gcA	p.A88A	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	88	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCATCATTGCGCTGAGCGTGA	0.587																																																	0													120	109	113					1																	33354763		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"EF-hand domain containing"	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.264G>A	1.37:g.33354763G>A			B2R9T3|D3DPQ7|P32076|P41211|P70510	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.A88	ENST00000373467.3	37	c.264	CCDS370.1	1																																																																																			HPCA	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000121905		0.587	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCA	HGNC	protein_coding	OTTHUMT00000011480.1	-	0	45	0	G	NM_002143		33354763	1	tier1	-	no_errors	ENST00000373467	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.589	A	A	33354763	G	A	33354763	2	1	93	1	0	0	0	0	0	0	0	1	7356	1074	38	1		1	HPCA	1	33354763	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	20412573	33354763	215895858	4	26794											
LRRC8C	84230	genome.wustl.edu	37	chr1	90178841	90178841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataaaaaggaaggtgagcagGctaaggccttatttgagaag	16	8	13	4	0	0	2	0	2	0	1	0	4	0	3	1	4	1	2	1	4	7	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:90178841G>C	ENST00000370454.4	+	3	967	c.712G>C	c.(712-714)Gct>Cct	p.A238P	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	238					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AGGTGAGCAGGCTAAGGCCTT	0.428																																																	0													79	81	80					1																	90178841		2203	4300	6503	SO:0001583	missense	0				CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"hypothetical protein AD158"	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.712G>C	1.37:g.90178841G>C	ENSP00000359483:p.Ala238Pro		B3KXS9|Q29RV6|Q9H075	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A238P	ENST00000370454.4	37	c.712	CCDS725.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070564	0.76301	.	.	ENSG00000171488	ENST00000370454	T	0.52754	0.65	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69431	-0.5147	10	0.87932	D	0	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	238	Q8TDW0	LRC8C_HUMAN	P	238	ENSP00000359483:A238P	ENSP00000359483:A238P	A	+	1	0	LRRC8C	89951429	1.000000	0.71417	0.986000	0.45419	0.970000	0.65996	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	GCT	LRRC8C	-	NULL	ENSG00000171488		0.428	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8C	HGNC	protein_coding	OTTHUMT00000028435.2	-	0	107	0	G	NM_032270		90178841	1	tier1	-	no_errors	ENST00000370454	ensembl	human	known	74_37	missense	15.48	71	13	SNP	1.000	C	C	90178841	G	C	90178841	3	2	93	1	0	0	0	0	1	0	0	0	9058	1203	42	5	718	5	LRRC8C	1	90178841	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	56824078	90178841	159071780	5	26795											
SEMA4A	64218	genome.wustl.edu	37	chr1	156130700	156130700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctcccccgcagatgaCgcctcctttgtggcagccat	5	9	9	18	2	0	2	0	1	0	1	2	2	2	2	7	1	2	2	7	1	0	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:156130700C>T	ENST00000368285.3	+	8	957	c.690C>T	c.(688-690)gaC>gaT	p.D230D	SEMA4A_ENST00000368286.2_Silent_p.D98D|SEMA4A_ENST00000368284.1_Silent_p.D98D|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Silent_p.D230D|SEMA4A_ENST00000368282.1_Silent_p.D230D	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	230	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCGCAGATGACGCCTCCTTTG	0.597																																																	0													82	84	83					1																	156130700		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.690C>T	1.37:g.156130700C>T			B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.D230	ENST00000368285.3	37	c.690	CCDS1132.1	1																																																																																			SEMA4A	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196189		0.597	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	HGNC	protein_coding	OTTHUMT00000039484.2	-	0	41	0	C	NM_022367		156130700	1	tier1	-	no_errors	ENST00000355014	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.993	T	T	156130700	C	T	156130700	2	4	93	1	0	0	0	0	0	0	0	1	14076	535	19	1		1	SEMA4A	1	156130700	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	65951859	156130700	93119921	6	26796											
VAMP4	8674	genome.wustl.edu	37	chr1	171688329	171688329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttaattttatcatttCtaggtccaaatcttggtcca	10	17	5	9	0	3	0	1	0	2	0	5	0	5	0	2	2	1	1	2	2	4	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:171688329C>A	ENST00000236192.7	-	4	532	c.146G>T	c.(145-147)aGa>aTa	p.R49I	VAMP4_ENST00000415773.1_Missense_Mutation_p.R48I|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000367740.2_Missense_Mutation_p.R48I	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	49					Golgi to plasma membrane protein transport (GO:0043001)|regulation of Golgi to plasma membrane protein transport (GO:0042996)|SNARE complex assembly (GO:0035493)	cell surface (GO:0009986)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|SNARE complex (GO:0031201)|trans-Golgi network (GO:0005802)				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTATCATTTCTAGGTCCAAA	0.333																																																	0													64	65	65					1																	171688329		2203	4300	6503	SO:0001583	missense	0			AF044310	CCDS1298.1, CCDS53430.1	1q24-q25	2013-02-13			ENSG00000117533	ENSG00000117533		"Vesicle-associated membrane proteins"	12645	protein-coding gene	gene with protein product		606909				9553086	Standard	NM_003762		Approved		uc001ghx.2	O75379	OTTHUMG00000034788	ENST00000236192.7:c.146G>T	1.37:g.171688329C>A	ENSP00000236192:p.Arg49Ile		A2IDD8|Q96IY9|Q96J20|Q9UEL7	Missense_Mutation	SNP	pfam_Synaptobrevin,pfscan_Synaptobrevin,prints_Synaptobrevin	p.R49I	ENST00000236192.7	37	c.146	CCDS1298.1	1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814933	0.50527	.	.	ENSG00000117533	ENST00000236192;ENST00000415773;ENST00000367740	T;T;T	0.30714	1.52;1.52;1.52	5.84	3.99	0.46301	.	0.214386	0.49305	D	0.000159	T	0.11879	0.0289	N	0.19112	0.55	0.58432	D	0.999995	B;P	0.37176	0.405;0.586	B;B	0.42692	0.395;0.377	T	0.06643	-1.0815	10	0.40728	T	0.16	.	9.6186	0.39708	0.0:0.7747:0.0:0.2253	.	48;49	O75379-2;O75379	.;VAMP4_HUMAN	I	49;48;48	ENSP00000236192:R49I;ENSP00000415627:R48I;ENSP00000356714:R48I	ENSP00000236192:R49I	R	-	2	0	VAMP4	169954952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.857000	0.39399	0.829000	0.34733	0.655000	0.94253	AGA	VAMP4	-	NULL	ENSG00000117533		0.333	VAMP4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VAMP4	HGNC	protein_coding	OTTHUMT00000304033.2	-	0	81	0	C	NM_003762		171688329	-1	tier1	-	no_errors	ENST00000236192	ensembl	human	known	74_37	missense	5.41	69	4	SNP	0.994	A	A	171688329	C	A	171688329	3	1	93	1	0	0	0	0	1	0	0	0	17164	913	32	3	299	3	VAMP4	1	171688329	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	15557629	171688329	77562292	7	26797											
QSOX1	5768	genome.wustl.edu	37	chr1	180135646	180135646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggaggccggccctgtatCtcgccgccctggactgtgct	3	9	13	16	3	1	0	0	0	1	0	2	2	1	2	5	4	1	2	5	4	1	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:180135646C>T	ENST00000367602.3	+	2	360	c.286C>T	c.(286-288)Ctc>Ttc	p.L96F	QSOX1_ENST00000367600.5_Missense_Mutation_p.L96F			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	96	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGCCCTGTATCTCGCCGCCCT	0.592																																																	0													78	74	75					1																	180135646		2203	4300	6503	SO:0001583	missense	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.286C>T	1.37:g.180135646C>T	ENSP00000356574:p.Leu96Phe		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.L96F	ENST00000367602.3	37	c.286	CCDS1337.1	1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609600	0.46527	.	.	ENSG00000116260	ENST00000367602;ENST00000367600	T;T	0.14766	2.48;2.48	4.83	3.83	0.44106	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.145674	0.45867	D	0.000336	T	0.23370	0.0565	L	0.33792	1.035	0.41132	D	0.985899	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.992;0.991	T	0.00865	-1.1535	10	0.72032	D	0.01	-21.391	10.0198	0.42035	0.0:0.7327:0.2673:0.0	.	96;96;96	A8K477;O00391;O00391-2	.;QSOX1_HUMAN;.	F	96	ENSP00000356574:L96F;ENSP00000356572:L96F	ENSP00000356572:L96F	L	+	1	0	QSOX1	178402269	0.064000	0.20934	0.723000	0.30687	0.320000	0.28249	0.393000	0.20817	2.393000	0.81446	0.563000	0.77884	CTC	QSOX1	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000116260		0.592	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1		0	48	0	C	NM_002826		180135646	1			no_errors	ENST00000367602	ensembl	human	known	74_37	missense	8.33	22	2	SNP	0.409	T	T	180135646	C	T	180135646	3	4	93	1	0	0	0	0	1	0	0	0	12928	913	32	3	292	3	QSOX1	1	180135646	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	8447317	180135646	69114975	8	26798											
RGS8	85397	genome.wustl.edu	37	chr1	182635137	182635137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcacatcaaaggaatctgCccacctcgtagcttcttctg	11	10	7	13	1	4	0	1	0	3	0	5	1	4	1	2	1	3	3	2	1	4	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:182635137C>T	ENST00000483095.2	-	5	417	c.160G>A	c.(160-162)Gca>Aca	p.A54T	RGS8_ENST00000258302.4_Missense_Mutation_p.A72T|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Missense_Mutation_p.A54T|RGS8_ENST00000367556.1_Missense_Mutation_p.A54T			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	54					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AAGGAATCTGCCCACCTCGTA	0.403																																					Ovarian(189;1262 3804 41973)												0													170	170	170					1																	182635137		2203	4300	6503	SO:0001583	missense	0			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.160G>A	1.37:g.182635137C>T	ENSP00000426289:p.Ala54Thr		B4DGL9|Q3SYD2	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A72T	ENST00000483095.2	37	c.214	CCDS41443.1	1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671316	0.67814	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.47	5.47	0.80525	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.058699	0.64402	D	0.000002	T	0.33498	0.0865	L	0.61218	1.895	0.49213	D	0.999764	B;B	0.31435	0.071;0.323	B;B	0.28638	0.02;0.092	T	0.10474	-1.0628	10	0.46703	T	0.11	.	16.2314	0.82344	0.0:1.0:0.0:0.0	.	54;72	P57771;P57771-2	RGS8_HUMAN;.	T	54;72;54;54;54	ENSP00000426289:A54T;ENSP00000258302:A72T;ENSP00000356528:A54T;ENSP00000356527:A54T	ENSP00000258302:A72T	A	-	1	0	RGS8	180901760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.135000	0.42112	2.561000	0.86390	0.655000	0.94253	GCA	RGS8	-	superfamily_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000135824		0.403	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RGS8	HGNC	protein_coding	OTTHUMT00000358979.1	-	0	59	0	C	NM_033345		182635137	-1	tier1	-	no_errors	ENST00000258302	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	182635137	C	T	182635137	3	4	93	1	0	0	0	0	1	0	0	0	13357	739	26	3	394	3	RGS8	1	182635137	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	2499491	182635137	66615484	9	26799											
CD46	4179	genome.wustl.edu	37	chr1	207930538	207930538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacctgtctcagatgacGcctgttatagtaagtaaaca	12	11	9	9	1	1	2	1	1	1	1	2	2	1	2	2	1	2	4	2	1	6	5	rs547298394		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:207930538G>A	ENST00000358170.2	+	2	433	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	CD46_ENST00000357714.1_Missense_Mutation_p.A93T|CD46_ENST00000360212.2_Missense_Mutation_p.A93T|CD46_ENST00000322875.4_Missense_Mutation_p.A93T|CD46_ENST00000361067.1_Missense_Mutation_p.A93T|CD46_ENST00000367042.1_Missense_Mutation_p.A93T|CD46_ENST00000441839.2_Missense_Mutation_p.A93T|CD46_ENST00000367041.1_Missense_Mutation_p.A93T|CD46_ENST00000322918.5_Missense_Mutation_p.A93T|CD46_ENST00000354848.1_Missense_Mutation_p.A93T|CD46_ENST00000367047.1_Intron|CD46_ENST00000480003.1_Missense_Mutation_p.A93T|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	93	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						CTCAGATGACGCCTGTTATAG	0.363													G|||	1	0.000199681	8e-04	0	5008	,	,		18702	0		0	False		,,,				2504	0																0													102	101	101					1																	207930538		2203	4300	6503	SO:0001583	missense	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"CD molecules", "Complement system"	6953	protein-coding gene	gene with protein product		120920	"antigen identified by monoclonal antibody TRA-2-10", "membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)", "CD46 antigen, complement regulatory protein"	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.277G>A	1.37:g.207930538G>A	ENSP00000350893:p.Ala93Thr		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A93T	ENST00000358170.2	37	c.277	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107013	0.20714	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T	0.34859	1.44;1.45;1.48;1.42;1.44;1.47;1.44;1.34;1.4;1.51;1.44	3.72	1.78	0.24846	Complement control module (1);Sushi/SCR/CCP (2);	1.261360	0.05878	N	0.625873	T	0.32823	0.0842	L	0.28400	0.85	0.09310	N	1	P;D;P;P;P;P;P;B;P;P;P;P;P;P	0.61697	0.858;0.99;0.615;0.858;0.885;0.644;0.858;0.335;0.858;0.923;0.915;0.644;0.923;0.742	B;P;B;B;B;B;B;B;B;B;B;B;B;B	0.50570	0.296;0.644;0.073;0.409;0.115;0.131;0.409;0.073;0.29;0.128;0.379;0.131;0.182;0.265	T	0.21314	-1.0249	10	0.17832	T	0.49	.	6.5631	0.22497	0.0:0.2003:0.5926:0.2071	.	93;93;93;93;93;93;93;93;93;93;93;93;93;93	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	T	93	ENSP00000350893:A93T;ENSP00000346912:A93T;ENSP00000314664:A93T;ENSP00000356009:A93T;ENSP00000356008:A93T;ENSP00000350346:A93T;ENSP00000313875:A93T;ENSP00000413543:A93T;ENSP00000354358:A93T;ENSP00000353342:A93T;ENSP00000418471:A93T	ENSP00000313875:A93T	A	+	1	0	CD46	205997161	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.725000	0.25970	0.515000	0.28320	-1.359000	0.01217	GCC	CD46	-	pirsf_M_CF_CD46,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3		0	51	0	G	NM_172361		207930538	1			no_errors	ENST00000322875	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.000	A	A	207930538	G	A	207930538	3	1	93	1	0	0	0	0	1	0	0	0	3025	1087	38	1	283	1	CD46	1	207930538	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	25295401	207930538	41320083	10	26800											
KCNK2	3776	genome.wustl.edu	37	chr1	215256745	215256745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcatgcttcccagcgcctCgcgggagagacccggctata	7	7	11	16	4	1	1	1	0	0	1	3	3	2	2	4	2	2	2	4	2	2	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr1:215256745C>T	ENST00000444842.2	+	1	167	c.17C>T	c.(16-18)tCg>tTg	p.S6L	KCNK2_ENST00000391895.2_Intron|KCNK2_ENST00000391894.2_Intron	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	6					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.S6W(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CCCAGCGCCTCGCGGGAGAGA	0.547																																																	2	Substitution - Missense(2)	urinary_tract(2)											67	76	73					1																	215256745		2203	4300	6503	SO:0001583	missense	0			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.17C>T	1.37:g.215256745C>T	ENSP00000394033:p.Ser6Leu		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.S6L	ENST00000444842.2	37	c.17	CCDS41467.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707250	0.48412	.	.	ENSG00000082482	ENST00000444842	T	0.21191	2.02	4.27	1.18	0.20946	.	0.933707	0.08889	N	0.878957	T	0.15609	0.0376	N	0.22421	0.69	0.23594	N	0.997333	P	0.44241	0.829	B	0.40134	0.32	T	0.23404	-1.0189	10	0.39692	T	0.17	.	11.786	0.52043	0.0:0.4634:0.5366:0.0	.	6	O95069	KCNK2_HUMAN	L	6	ENSP00000394033:S6L	ENSP00000394033:S6L	S	+	2	0	KCNK2	213323368	0.083000	0.21467	0.998000	0.56505	0.998000	0.95712	0.229000	0.17833	0.061000	0.16311	0.655000	0.94253	TCG	KCNK2	-	NULL	ENSG00000082482		0.547	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	-	0	83	0	C	NM_014217		215256745	1	tier1	-	no_errors	ENST00000444842	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T	T	215256745	C	T	215256745	3	4	93	1	0	0	0	0	1	0	0	0	8093	893	31	1	62	1	KCNK2	1	215256745	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	7326207	215256745	33993876	11	26801											
EMILIN1	11117	genome.wustl.edu	37	chr2	27308035	27308035	+	Frame_Shift_Del	DEL	G	G	-																															ccttcccactcaggagtggaGggggcaccagcagcccctgt																										TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:27308035delG	ENST00000380320.4	+	7	3082	c.2583delG	c.(2581-2583)gagfs	p.E861fs	KHK_ENST00000260599.6_5'Flank|KHK_ENST00000260598.5_5'Flank	NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	861	Collagen-like.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGAGTGGAGGGGGCACCAG	0.642																																																	0													57	58	58					2																	27308035		2203	4300	6503	SO:0001589	frameshift_variant	0			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"EMI domain containing"	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2583delG	2.37:g.27308035delG	ENSP00000369677:p.Glu861fs		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Frame_Shift_Del	DEL	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.A863fs	ENST00000380320.4	37	c.2583	CCDS1733.1	2																																																																																			EMILIN1	-	pfam_Collagen	ENSG00000138080		0.642	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1		0	35	0	G	NM_007046		27308035	1	tier1		no_errors	ENST00000380320	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	0.887	-	-	27308035	G	-	27308035	7	5	93	1	0	1	0	1	0	0	0	0	5109	991	35	0	2609	0	EMILIN1	2	27308035	Frame_Shift_Del	DEL	G	TCGA-L5-A8NU-01A-11D-A36J-09		27308035	215891338	12	26802											
CAD	790	genome.wustl.edu	37	chr2	27446585	27446585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgatggttccaatgaaGgcattgtgcacaacagcttg	12	10	10	9	0	0	2	0	2	0	0	1	2	1	2	2	2	3	4	2	2	4	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:27446585G>T	ENST00000403525.1	+	7	1108	c.964G>T	c.(964-966)Ggc>Tgc	p.G322C	CAD_ENST00000264705.4_Missense_Mutation_p.G322C			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCAATGAAGGCATTGTGCA	0.502																																																	0													253	240	244					2																	27446585		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.964G>T	2.37:g.27446585G>T	ENSP00000384510:p.Gly322Cys		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.G322C	ENST00000403525.1	37	c.964		2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591040	0.86851	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.91945	-2.94;-2.94	5.45	5.45	0.79879	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98292	0.9434	H	0.99939	4.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99601	1.0978	10	0.87932	D	0	-2.231	16.7618	0.85514	0.0:0.0:1.0:0.0	.	322;322	F8VPD4;P27708	.;PYR1_HUMAN	C	322	ENSP00000264705:G322C;ENSP00000384510:G322C	ENSP00000264705:G322C	G	+	1	0	CAD	27300089	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.191000	0.94940	2.559000	0.86315	0.491000	0.48974	GGC	CAD	-	pfam_GATASE,tigrfam_CarbamoylP_synth_ssu	ENSG00000084774		0.502	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0	27	0	G			27446585	1			no_errors	ENST00000264705	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	27446585	G	T	27446585	3	4	93	1	0	0	0	0	1	0	0	0	2572	1000	35	3	990	3	CAD	2	27446585	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	138550	27446585	215752788	13	26803											
LTBP1	4052	genome.wustl.edu	37	chr2	33468795	33468795	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaataccatgggcagctAtcgatgtacctgcaaaatag	13	11	9	8	1	0	1	0	1	0	0	1	2	0	1	2	1	4	4	2	1	7	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:33468795A>T	ENST00000404816.2	+	10	2296	c.1943A>T	c.(1942-1944)tAt>tTt	p.Y648F	LTBP1_ENST00000402934.1_Missense_Mutation_p.Y322F|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y648F|LTBP1_ENST00000407925.1_Missense_Mutation_p.Y322F|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y322F|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y322F|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y322F			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	648	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ATGGGCAGCTATCGATGTACC	0.383																																																	0													189	170	177					2																	33468795		2203	4300	6503	SO:0001583	missense	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"Latent transforming growth factor, beta binding proteins"	6714	protein-coding gene	gene with protein product	"TGF-beta1-BP-1"	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.1943A>T	2.37:g.33468795A>T	ENSP00000386043:p.Tyr648Phe		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Y648F	ENST00000404816.2	37	c.1943	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	A	18.62	3.663065	0.67700	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000413303	D;D;D;D;D;D;D;T	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;-2.64;1.16	6.04	6.04	0.98038	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86134	0.5860	N	0.20986	0.625	0.80722	D	1	P;B;B;B;B;B	0.37038	0.579;0.067;0.37;0.082;0.031;0.322	B;B;B;B;B;B	0.39771	0.302;0.058;0.309;0.057;0.034;0.081	D	0.85282	0.1062	9	0.33940	T	0.23	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	648;322;322;322;322;648	Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	LTBP1_HUMAN;.;.;.;.;.	F	648;648;322;322;322;322;322;4	ENSP00000386043:Y648F;ENSP00000346467:Y648F;ENSP00000374653:Y322F;ENSP00000393057:Y322F;ENSP00000384373:Y322F;ENSP00000385359:Y322F;ENSP00000384091:Y322F;ENSP00000415412:Y4F	ENSP00000346467:Y648F	Y	+	2	0	LTBP1	33322299	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.778000	0.75043	2.317000	0.78254	0.459000	0.35465	TAT	LTBP1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000049323		0.383	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2	-	0	133	0	A	NM_206943		33468795	1	tier1	-	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	13.33	78	12	SNP	1.000	T	T	33468795	A	T	33468795	3	4	93	1	0	0	0	0	1	0	0	0	9108	449	16	5	2036	5	LTBP1	2	33468795	Missense_Mutation	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	6022210	33468795	209730578	14	26804											
ZNF2	7549	genome.wustl.edu	37	chr2	95847259	95847259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcacacactggggagagccCctacgagtgcagtgtgtgct	8	8	14	11	1	1	1	1	0	0	1	1	3	1	1	2	2	4	2	2	2	1	1	rs372354364		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:95847259C>A	ENST00000340539.5	+	5	1148	c.686C>A	c.(685-687)cCc>cAc	p.P229H	ZNF2_ENST00000425369.1_Missense_Mutation_p.P149H|ZNF2_ENST00000453539.2_Missense_Mutation_p.P242H|ZNF2_ENST00000295210.6_Missense_Mutation_p.P191H|ZNF2_ENST00000398107.2_Missense_Mutation_p.P187H	NM_021088.2	NP_066574	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		GGGGAGAGCCCCTACGAGTGC	0.557																																																	0													88	100	96					2																	95847259		2194	4300	6494	SO:0001583	missense	0			X60152	CCDS42712.1, CCDS42713.1, CCDS62957.1	2q11.1	2013-09-24	2005-02-07		ENSG00000163067	ENSG00000275111		"Zinc fingers, C2H2-type", "-"	12991	protein-coding gene	gene with protein product		194500	"zinc finger protein 2 (A1-5)"			8183940, 1945843	Standard	NM_021088		Approved	A1-5, ZNF661, Zfp661	uc002suf.3	Q9BSG1	OTTHUMG00000155150	ENST00000340539.5:c.686C>A	2.37:g.95847259C>A	ENSP00000345392:p.Pro229His		A8MWV7|B4DIR4|Q4ZFY6|Q96G44|Q9UMC5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P229H	ENST00000340539.5	37	c.686	CCDS42712.1	2	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981572	0.53827	.	.	ENSG00000163067	ENST00000398107;ENST00000340539;ENST00000425369;ENST00000295210;ENST00000453539	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.16	5.16	0.70880	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000154	T	0.59390	0.2190	M	0.82923	2.615	0.54753	D	0.999981	P;P;D	0.89917	0.805;0.483;1.0	P;B;D	0.75484	0.473;0.347;0.986	T	0.64257	-0.6450	10	0.72032	D	0.01	-18.7934	16.1933	0.82006	0.0:1.0:0.0:0.0	.	191;187;228	B4DIR4;A8MWV7;Q9BSG1	.;.;ZNF2_HUMAN	H	187;229;149;191;242	ENSP00000381178:P187H;ENSP00000345392:P229H;ENSP00000406017:P149H;ENSP00000295210:P191H;ENSP00000411051:P242H	ENSP00000295210:P191H	P	+	2	0	ZNF2	95210986	1.000000	0.71417	0.973000	0.42090	0.003000	0.03518	5.659000	0.68010	2.696000	0.92011	0.655000	0.94253	CCC	ZNF2	-	pfscan_Znf_C2H2	ENSG00000163067		0.557	ZNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF2	HGNC	protein_coding	OTTHUMT00000338595.2	-	0	97	0	C	NM_021088		95847259	1	tier1	-	no_errors	ENST00000340539	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	95847259	C	A	95847259	3	1	93	1	0	0	0	0	1	0	0	0	17808	623	22	3	700	3	ZNF2	2	95847259	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	62378464	95847259	147352114	15	26805											
FAHD2B	151313	genome.wustl.edu	37	chr2	97751910	97751910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctttccaatgaccacgGccagctccacttcccaatct	8	12	4	17	1	2	1	0	1	2	0	5	1	5	1	5	1	1	1	5	1	2	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:97751910G>A	ENST00000414820.1	-	5	758	c.488C>T	c.(487-489)gCc>gTc	p.A163V	FAHD2B_ENST00000440566.2_Missense_Mutation_p.A163V|FAHD2B_ENST00000272610.3_Missense_Mutation_p.A163V|FAHD2B_ENST00000468548.1_5'Flank			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	163							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.A163V(1)		kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						AATGACCACGGCCAGCTCCAC	0.587																																																	1	Substitution - Missense(1)	skin(1)											75	54	61					2																	97751910		2203	4297	6500	SO:0001583	missense	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.488C>T	2.37:g.97751910G>A	ENSP00000410470:p.Ala163Val		D3DXH7|Q8NDK1	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.A163V	ENST00000414820.1	37	c.488	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	g	15.53	2.860223	0.51482	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.97870	-4.58;-4.58;-4.58	0.624	0.624	0.17659	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.055877	0.64402	N	0.000001	D	0.96172	0.8752	L	0.44542	1.39	0.43678	D	0.996116	P	0.52692	0.955	P	0.56216	0.794	D	0.92921	0.6355	10	0.32370	T	0.25	.	7.0501	0.25069	1.0E-4:0.0:0.9999:0.0	.	163	Q6P2I3	FAH2B_HUMAN	V	163	ENSP00000410470:A163V;ENSP00000272610:A163V;ENSP00000444599:A163V	ENSP00000272610:A163V	A	-	2	0	FAHD2B	97115637	1.000000	0.71417	0.746000	0.31095	0.314000	0.28054	5.592000	0.67543	0.587000	0.29643	0.306000	0.20318	GCC	FAHD2B	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000144199		0.587	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	-	0	88	0	G	NM_199336		97751910	-1	tier1	-	no_errors	ENST00000272610	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	A	A	97751910	G	A	97751910	3	1	93	1	0	0	0	0	1	0	0	0	5393	1203	42	3	476	3	FAHD2B	2	97751910	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	1904651	97751910	145447463	16	26806											
INPP4A	3631	genome.wustl.edu	37	chr2	99172218	99172218	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtgatgtcccctcctCaccatgcccctccaccatgc	5	11	5	20	0	2	1	1	1	1	0	5	1	5	1	8	0	2	0	8	0	0	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:99172218C>A	ENST00000523221.1	+	15	1784	c.1784C>A	c.(1783-1785)tCa>tAa	p.S595*	INPP4A_ENST00000074304.5_Nonsense_Mutation_p.S595*|INPP4A_ENST00000409540.3_Intron|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000545415.1_Intron|INPP4A_ENST00000409016.4_Intron|INPP4A_ENST00000409851.3_Nonsense_Mutation_p.S590*			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	595					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GTCCCCTCCTCACCATGCCCC	0.577																																																	0													232	240	237					2																	99172218		692	1591	2283	SO:0001587	stop_gained	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"inositol polyphosphate-4-phosphatase, type I, 107kD"	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1784C>A	2.37:g.99172218C>A	ENSP00000427722:p.Ser595*		O15326|Q13187|Q53TD8|Q8TC02	Nonsense_Mutation	SNP	superfamily_C2_dom	p.S595*	ENST00000523221.1	37	c.1784	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	C	41	9.096505	0.99064	.	.	ENSG00000040933	ENST00000409851;ENST00000074304;ENST00000523221	.	.	.	5.27	5.27	0.74061	.	0.277119	0.27159	N	0.020659	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.9563	18.0416	0.89320	0.0:1.0:0.0:0.0	.	.	.	.	X	590;595;595	.	.	S	+	2	0	INPP4A	98538650	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	6.412000	0.73303	2.748000	0.94277	0.655000	0.94253	TCA	INPP4A	-	NULL	ENSG00000040933		0.577	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	-	0	48	0	C	NM_001566		99172218	1	tier1	-	no_errors	ENST00000074304	ensembl	human	known	74_37	nonsense	15.15	28	5	SNP	0.999	A	A	99172218	C	A	99172218	4	1	93	1	0	0	0	0	0	1	0	0	7779	838	29	3	1842	3	INPP4A	2	99172218	Nonsense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	1420308	99172218	144027155	17	26807											
MKI67IP	84365	genome.wustl.edu	37	chr2	122493308	122493310	+	In_Frame_Del	DEL	GTT	GTT	-																															atagactactccaggagtaaGttgttcttgtttttttcgct																								rs190300336		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	GTT	GTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:122493308_122493310delGTT	ENST00000285814.4	-	2	194_196	c.122_124delAAC	c.(121-126)caactt>ctt	p.Q41del		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		41					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CCAGGAGTAAGTTGTTCTTGTTT	0.409																																																	0																																										SO:0001651	inframe_deletion	0																														ENST00000285814.4:c.122_124delAAC	2.37:g.122493311_122493313delGTT	ENSP00000285814:p.Gln41del		A8K788|Q8TB66|Q96ED4	In_Frame_Del	DEL	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q41in_frame_del	ENST00000285814.4	37	c.124_122	CCDS2135.1	2																																																																																			MKI67IP	-	NULL	ENSG00000155438		0.409	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	HGNC	protein_coding	OTTHUMT00000254239.2		0	117	0	GTT			122493310	-1	tier1		no_errors	ENST00000285814	ensembl	human	known	74_37	in_frame_del	13.25	72	11	DEL	0.012:0.000:0.001	-	-	122493310	GTT	-	122493308	7	5	93	1	0	1	0	1	0	0	0	0	9637	1029	36	0	781	0	MKI67IP	2	122493308	In_Frame_Del	DEL	GTT	TCGA-L5-A8NU-01A-11D-A36J-09	23321090	122493308	120706065	18	26808											
THSD7B	80731	genome.wustl.edu	37	chr2	138376070	138376070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtcagcatggaccaatGtgagcaggtactgtgtttat	10	11	12	8	0	1	1	1	1	0	0	1	2	1	2	2	2	3	4	2	2	3	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:138376070G>A	ENST00000409968.1	+	19	3852	c.3674G>A	c.(3673-3675)tGt>tAt	p.C1225Y	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.C1228Y|THSD7B_ENST00000413152.2_Missense_Mutation_p.C1197Y			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1227	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATGGACCAATGTGAGCAGGTA	0.468																																																	0													92	101	98					2																	138376070		2111	4241	6352	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3674G>A	2.37:g.138376070G>A	ENSP00000387145:p.Cys1225Tyr			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C1228Y	ENST00000409968.1	37	c.3683		2	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264016	0.80358	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.72835	-0.69;-0.69;-0.69	5.09	5.09	0.68999	.	0.072216	0.85682	D	0.000000	D	0.84170	0.5413	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.85794	0.1369	10	0.66056	D	0.02	.	17.4245	0.87522	0.0:0.0:1.0:0.0	.	1197	C9JKN6	.	Y	1225;1228;1197	ENSP00000387145:C1225Y;ENSP00000272643:C1228Y;ENSP00000413841:C1197Y	ENSP00000272643:C1228Y	C	+	2	0	THSD7B	138092540	1.000000	0.71417	0.955000	0.39395	0.871000	0.50021	9.051000	0.93849	2.638000	0.89438	0.650000	0.86243	TGT	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000144229		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	90	0	G	XM_046570.9		138376070	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	16.18	57	11	SNP	1.000	A	A	138376070	G	A	138376070	3	1	93	1	0	0	0	0	1	0	0	0	15927	1377	48	3	3656	3	THSD7B	2	138376070	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	15882762	138376070	104823303	19	26809											
PRPF40A	55660	genome.wustl.edu	37	chr2	153533010	153533010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggggtactagtaagttGtgcttgttcctcagttgaaa	10	13	12	6	0	1	1	1	1	0	0	2	1	2	1	1	2	3	7	1	2	4	7			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:153533010G>T	ENST00000410080.1	-	10	1481	c.940C>A	c.(940-942)Caa>Aaa	p.Q314K		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	341					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						CTAGTAAGTTGTGCTTGTTCC	0.388																																																	0													85	80	82					2																	153533010		1898	4116	6014	SO:0001583	missense	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"formin-binding protein 3", "formin binding protein 3", "PRP40 pre-mRNA processing factor 40 homolog A (yeast)"	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.940C>A	2.37:g.153533010G>T	ENSP00000386458:p.Gln314Lys		O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1	p.Q314K	ENST00000410080.1	37	c.940	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755688	0.31046	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961;ENST00000545856;ENST00000493468	T	0.28666	1.6	5.49	5.49	0.81192	.	0.404770	0.27881	N	0.017469	T	0.35189	0.0923	N	0.19112	0.55	0.48511	D	0.999663	P;P;P	0.43578	0.713;0.811;0.664	P;P;B	0.60789	0.678;0.879;0.275	T	0.02132	-1.1208	10	0.05351	T	0.99	-17.1862	17.1506	0.86777	0.0:0.0:1.0:0.0	.	341;323;314	O75400;O75400-3;E9PFS0	PR40A_HUMAN;.;.	K	314;323;210;261;341;316	ENSP00000386458:Q314K	ENSP00000348770:Q323K	Q	-	1	0	PRPF40A	153241256	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.477000	0.66799	2.584000	0.87258	0.557000	0.71058	CAA	PRPF40A	-	NULL	ENSG00000196504		0.388	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2		0	61	0	G	XM_371575		153533010	-1			no_errors	ENST00000410080	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	153533010	G	T	153533010	3	4	93	1	0	0	0	0	1	0	0	0	12613	1386	48	3	1920	3	PRPF40A	2	153533010	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	15156940	153533010	89666363	20	26810											
CXCR1	3577	genome.wustl.edu	37	chr2	219029248	219029248	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccccatgtgggccttaaaCagtgtacgcagggtgaatcc	9	9	12	11	1	0	1	0	1	0	0	1	1	1	1	4	2	3	2	4	2	4	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:219029248C>A	ENST00000295683.2	-	2	807	c.687G>T	c.(685-687)ctG>ctT	p.L229L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	229					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GGGCCTTAAACAGTGTACGCA	0.552																																																	0													138	127	131					2																	219029248		2203	4300	6503	SO:0001819	synonymous_variant	0			U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"CD molecules", "GPCR / Class A : Chemokine receptors : C-X-C motif", "Interleukins and interleukin receptors"	6026	protein-coding gene	gene with protein product		146929	"interleukin 8 receptor, alpha"	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.687G>T	2.37:g.219029248C>A			B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.L229	ENST00000295683.2	37	c.687	CCDS2409.1	2																																																																																			CXCR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2	ENSG00000163464		0.552	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR1	HGNC	protein_coding	OTTHUMT00000256773.2		0	60	0	C	NM_000634		219029248	-1			no_errors	ENST00000295683	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.951	A	A	219029248	C	A	219029248	2	1	93	1	0	0	0	0	0	0	0	1	4099	465	17	3		3	CXCR1	2	219029248	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	65496238	219029248	24170125	21	26811											
STK16	8576	genome.wustl.edu	37	chr2	220111885	220111885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaaggacaaaggcaacttCctgaccgaggatcaaatcct	14	7	9	11	1	1	2	1	2	0	0	3	5	3	4	3	3	1	1	3	3	4	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr2:220111885C>T	ENST00000409638.3	+	4	529	c.357C>T	c.(355-357)ttC>ttT	p.F119F	GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000396738.2_Silent_p.F119F|STK16_ENST00000409743.1_Silent_p.F119F|STK16_ENST00000486813.1_3'UTR|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409516.3_Intron|STK16_ENST00000409260.1_Silent_p.F164F|GLB1L_ENST00000392089.2_5'Flank	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGGCAACTTCCTGACCGAGG	0.527																																					Pancreas(34;887 922 17165 36961 39622)												0													87	90	89					2																	220111885		1997	4164	6161	SO:0001819	synonymous_variant	0			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.357C>T	2.37:g.220111885C>T			A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F119	ENST00000409638.3	37	c.357	CCDS42822.1	2																																																																																			STK16	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000115661		0.527	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK16	HGNC	protein_coding	OTTHUMT00000335679.1	-	0	107	0	C			220111885	1	tier1	-	no_errors	ENST00000396738	ensembl	human	known	74_37	silent	8.00	69	6	SNP	1.000	T	T	220111885	C	T	220111885	2	4	93	1	0	0	0	0	0	0	0	1	15336	854	30	3		3	STK16	2	220111885	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	1082637	220111885	23087488	22	26812											
EOMES	8320	genome.wustl.edu	37	chr3	27763406	27763408	+	In_Frame_Del	DEL	GCG	GCG	-																															agcgcgcagtggccgcagccGcggcggcggcggcggcggcg																										TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	GCG	GCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr3:27763406_27763408delGCG	ENST00000295743.4	-	1	581_583	c.378_380delCGC	c.(376-381)gccgcg>gcg	p.126_127AA>A	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.126_127AA>A|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	126	Ala-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778																																																	0										85,33,494		40,0,5,13,7,241						-3.4	0		dbSNP_126	1	353,77,1382		157,0,39,28,21,661	no	codingComplex	EOMES	NM_005442.2		197,0,44,41,28,902	A1A1,A1A2,A1R,A2A2,A2R,RR		23.7307,19.281,22.6073				438,110,1876				SO:0001651	inframe_deletion	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"T-boxes"	3372	protein-coding gene	gene with protein product	"T-box brain2"	604615	"eomesodermin (Xenopus laevis) homolog"			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.378_380delCGC	3.37:g.27763415_27763417delGCG	ENSP00000295743:p.Ala130del		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Del	DEL	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.A130in_frame_del	ENST00000295743.4	37	c.380_378	CCDS2646.1	3																																																																																			EOMES	-	NULL	ENSG00000163508		0.778	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1		0	12	0	GCG	NM_005442		27763408	-1			no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.013:0.007:0.006	0	-	27763408	GCG	-	27763406	7	5	93	1	0	1	0	1	0	0	0	0	5163	1087	38	0	1704	0	EOMES	3	27763406	In_Frame_Del	DEL	GCG	TCGA-L5-A8NU-01A-11D-A36J-09		27763406	170259024	23	26813											
CMC1	152100	genome.wustl.edu	37	chr3	28357823	28357823	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccttccaaatttatttcaGattttaccaaatgttgcaag	12	17	4	8	0	1	1	1	0	0	1	3	1	3	1	3	0	2	2	3	0	5	8			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr3:28357823G>C	ENST00000466830.1	+	3	308		c.e3-1		CMC1_ENST00000423894.1_Splice_Site|CMC1_ENST00000469102.1_3'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						ATTTATTTCAGATTTTACCAA	0.289																																																	0													40	41	41					3																	28357823		2202	4294	6496	SO:0001630	splice_region_variant	0			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"chromosome 3 open reading frame 68", "COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.110-1G>C	3.37:g.28357823G>C			Q68DJ7	Splice_Site	SNP	-	e3-1	ENST00000466830.1	37	c.110-1	CCDS33722.1	3	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436057	0.62955	.	.	ENSG00000187118	ENST00000466830;ENST00000423894;ENST00000418849	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6138	0.95622	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CMC1	28332827	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.900000	0.87376	2.644000	0.89710	0.563000	0.77884	.	CMC1	-	-	ENSG00000187118		0.289	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CMC1	HGNC	protein_coding	OTTHUMT00000341087.1	-	0	139	0	G	NM_182523	Intron	28357823	1	tier1	-	no_errors	ENST00000466830	ensembl	human	known	74_37	splice_site	15.29	72	13	SNP	1.000	C	C	28357823	G	C	28357823	5	2	93	1	0	0	0	0	0	0	1	0	3584	956	33	5	119	5	CMC1	3	28357823	Splice_Site	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	594417	28357823	169664607	24	26814											
GNAI2	2771	genome.wustl.edu	37	chr3	50294505	50294505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacagtcccctgaccatctGcttccctgagtacacaggtg	9	9	8	15	0	1	2	0	2	1	0	3	2	3	2	4	1	2	2	4	1	1	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr3:50294505G>A	ENST00000313601.6	+	7	1244	c.860G>A	c.(859-861)tGc>tAc	p.C287Y	GNAI2_ENST00000451956.1_Missense_Mutation_p.C250Y|GNAI2_ENST00000440628.1_Missense_Mutation_p.C235Y|GNAI2_ENST00000422163.1_Missense_Mutation_p.C271Y|GNAI2_ENST00000266027.5_Missense_Mutation_p.C271Y|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_Missense_Mutation_p.C206Y	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	287					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTGACCATCTGCTTCCCTGAG	0.547											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													124	107	113					3																	50294505		2203	4300	6503	SO:0001583	missense	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.860G>A	3.37:g.50294505G>A	ENSP00000312999:p.Cys287Tyr	968	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.C287Y	ENST00000313601.6	37	c.860	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516970	0.85495	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	4.49	4.49	0.54785	.	0.093138	0.85682	D	0.000000	D	0.89269	0.6667	L	0.46614	1.455	0.80722	D	1	D;B;D;D	0.89917	1.0;0.356;1.0;1.0	D;P;D;D	0.87578	0.998;0.627;0.998;0.995	D	0.88885	0.3342	10	0.46703	T	0.11	.	15.0757	0.72074	0.0:0.0:1.0:0.0	.	250;287;271;271	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	Y	271;287;206;287;235;250;271	ENSP00000406871:C271Y;ENSP00000312999:C287Y;ENSP00000444360:C206Y;ENSP00000395736:C235Y;ENSP00000406369:C250Y;ENSP00000266027:C271Y	ENSP00000266027:C271Y	C	+	2	0	GNAI2	50269509	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.596000	0.98267	2.522000	0.85027	0.655000	0.94253	TGC	GNAI2	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	ENSG00000114353		0.547	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	-	0	25	0	G	NM_002070		50294505	1	tier1	-	no_errors	ENST00000313601	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	A	A	50294505	G	A	50294505	3	1	93	1	0	0	0	0	1	0	0	0	6531	1319	46	3	897	3	GNAI2	3	50294505	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	21936682	50294505	147727925	25	26815											
FRYL	285527	genome.wustl.edu	37	chr4	48584704	48584704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcattagtgcctgcagaGtattgaaagccagagcacgc	13	7	11	10	1	0	3	0	1	0	2	0	3	0	3	2	0	5	4	2	0	4	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:48584704G>T	ENST00000503238.1	-	17	1795	c.1796C>A	c.(1795-1797)aCt>aAt	p.T599N	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.T305N|FRYL_ENST00000358350.4_Missense_Mutation_p.T599N|FRYL_ENST00000537810.1_Missense_Mutation_p.T599N|FRYL_ENST00000507711.1_Missense_Mutation_p.T599N			O94915	FRYL_HUMAN	FRY-like	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCCTGCAGAGTATTGAAAGC	0.388																																																	0													101	95	97					4																	48584704		1863	4108	5971	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1796C>A	4.37:g.48584704G>T	ENSP00000426064:p.Thr599Asn		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T599N	ENST00000503238.1	37	c.1796	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628487	0.87560	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	T;T;T;T;T	0.67171	3.53;3.53;3.53;3.53;-0.25	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.74688	0.3749	L	0.27053	0.805	0.80722	D	1	D;P	0.62365	0.991;0.891	D;P	0.76071	0.987;0.781	T	0.76542	-0.2921	10	0.66056	D	0.02	.	20.0499	0.97621	0.0:0.0:1.0:0.0	.	599;599	F2Z2S2;O94915	.;FRYL_HUMAN	N	599;599;599;599;305	ENSP00000426064:T599N;ENSP00000351113:T599N;ENSP00000441114:T599N;ENSP00000421584:T599N;ENSP00000425592:T305N	ENSP00000351113:T599N	T	-	2	0	FRYL	48279461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.798000	0.96311	0.655000	0.94253	ACT	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.388	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	57	0	G			48584704	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	48584704	G	T	48584704	3	4	93	1	0	0	0	0	1	0	0	0	6088	1029	36	3	7425	3	FRYL	4	48584704	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09		48584704	142569572	26	26816											
AGPAT9	84803	genome.wustl.edu	37	chr4	84508432	84508432	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggctttcattgggatCagtttgctggttataggaac	8	15	11	7	0	2	0	2	0	0	0	2	2	2	2	1	4	2	4	1	4	3	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:84508432C>A	ENST00000395226.2	+	5	722	c.504C>A	c.(502-504)atC>atA	p.I168I	AGPAT9_ENST00000264409.4_Silent_p.I168I	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	168					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TCATTGGGATCAGTTTGCTGG	0.398																																																	0													162	159	160					4																	84508432		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"1-acylglycerol-3-phosphate O-acyltransferases"	28157	protein-coding gene	gene with protein product	"lysophosphatidic acid acyltransferase, theta"	610958	"1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.504C>A	4.37:g.84508432C>A			Q68CJ4|Q6GPI6|Q96NA3	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.I168	ENST00000395226.2	37	c.504	CCDS3606.1	4																																																																																			AGPAT9	-	NULL	ENSG00000138678		0.398	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	-	0	95	0	C	NM_032717		84508432	1	tier1	-	no_errors	ENST00000264409	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.976	A	A	84508432	C	A	84508432	2	1	93	1	0	0	0	0	0	0	0	1	392	816	29	3		3	AGPAT9	4	84508432	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	35923728	84508432	106645844	27	26817											
HERC6	55008	genome.wustl.edu	37	chr4	89319299	89319299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactttcttttagacttcGtggatgttcaagtcaaacac	11	15	7	8	1	3	2	2	1	1	1	4	3	3	3	0	1	1	1	0	1	3	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:89319299G>A	ENST00000264346.7	+	8	1089	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	HERC6_ENST00000380265.5_Missense_Mutation_p.V344M	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	344					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTAGACTTCGTGGATGTTCA	0.294																																																	0													76	73	74					4																	89319299		1815	4068	5883	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1030G>A	4.37:g.89319299G>A	ENSP00000264346:p.Val344Met		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V344M	ENST00000264346.7	37	c.1030	CCDS47098.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.529|9.529	1.110295|1.110295	0.20714|0.20714	.|.	.|.	ENSG00000138642|ENSG00000138642	ENST00000438983|ENST00000380265;ENST00000511939;ENST00000264346	.|T;T	.|0.80304	.|-1.36;-1.36	4.57|4.57	2.66|2.66	0.31614|0.31614	.|Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	.|1.208980	.|0.05987	.|N	.|0.645448	D|D	0.83505|0.83505	0.5269|0.5269	L|L	0.56769|0.56769	1.78|1.78	0.09310|0.09310	N|N	1|1	.|D;D	.|0.69078	.|0.997;0.996	.|P;P	.|0.54499	.|0.754;0.572	T|T	0.68059|0.68059	-0.5509|-0.5509	6|10	0.02654|0.42905	T|T	1|0.14	.|.	7.8843|7.8843	0.29640|0.29640	0.2247:0.0:0.7753:0.0|0.2247:0.0:0.7753:0.0	.|.	.|344;344	.|Q8IVU3-2;Q8IVU3	.|.;HERC6_HUMAN	H|M	298|344	.|ENSP00000369617:V344M;ENSP00000264346:V344M	ENSP00000415718:R298H|ENSP00000264346:V344M	R|V	+|+	2|1	0|0	HERC6|HERC6	89538322|89538322	0.002000|0.002000	0.14202|0.14202	0.539000|0.539000	0.28077|0.28077	0.717000|0.717000	0.41224|0.41224	0.323000|0.323000	0.19593|0.19593	1.148000|1.148000	0.42385|0.42385	0.297000|0.297000	0.19635|0.19635	CGT|GTG	HERC6	-	superfamily_RCC1/BLIP-II	ENSG00000138642		0.294	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	-	0	67	0	G			89319299	1	tier1	-	no_errors	ENST00000264346	ensembl	human	known	74_37	missense	23.53	39	12	SNP	0.037	A	A	89319299	G	A	89319299	3	1	93	1	0	0	0	0	1	0	0	0	7089	1145	40	1	857	1	HERC6	4	89319299	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	4810867	89319299	101834977	28	26818											
UNC5C	8633	genome.wustl.edu	37	chr4	96140296	96140296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcagagaggtcatcttggGgggtgacagcacctgaggtg	9	8	16	8	0	3	3	2	2	1	1	3	4	3	3	1	5	1	1	1	5	0	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:96140296G>T	ENST00000453304.1	-	9	1817	c.1469C>A	c.(1468-1470)cCc>cAc	p.P490H	UNC5C_ENST00000506749.1_Missense_Mutation_p.P509H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	490					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTCATCTTGGGGGGTGACAGC	0.502																																																	0													226	207	213					4																	96140296		2203	4300	6503	SO:0001583	missense	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"Immunoglobulin superfamily / I-set domain containing"	12569	protein-coding gene	gene with protein product		603610	"unc5 (C.elegans homolog) c"			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1469C>A	4.37:g.96140296G>T	ENSP00000406022:p.Pro490His		Q8IUT0	Missense_Mutation	SNP	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P490H	ENST00000453304.1	37	c.1469	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223804	0.79576	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.58210	0.66;0.35;0.36	5.45	5.45	0.79879	.	0.104165	0.64402	D	0.000002	T	0.70307	0.3209	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.87578	0.923;0.998;0.998	T	0.71994	-0.4424	10	0.72032	D	0.01	.	19.2996	0.94138	0.0:0.0:1.0:0.0	.	490;509;490	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	H	490;449;509;509	ENSP00000406022:P490H;ENSP00000426924:P509H;ENSP00000426153:P509H	ENSP00000328673:P449H	P	-	2	0	UNC5C	96359319	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	7.639000	0.83342	2.555000	0.86185	0.655000	0.94253	CCC	UNC5C	-	NULL	ENSG00000182168		0.502	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1	-	0	60	0	G	NM_003728		96140296	-1	tier1	-	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	96140296	G	T	96140296	3	4	93	1	0	0	0	0	1	0	0	0	17042	1232	43	3	1358	3	UNC5C	4	96140296	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	6820997	96140296	95013980	29	26819											
PDHA2	5161	genome.wustl.edu	37	chr4	96762049	96762049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaattttatccctgggCtaaaggtcgatggaatggat	10	11	14	6	1	0	0	0	0	0	0	2	3	1	2	1	6	0	2	1	6	5	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:96762049C>A	ENST00000295266.4	+	1	811	c.748C>A	c.(748-750)Cta>Ata	p.L250I		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	250					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TATCCCTGGGCTAAAGGTCGA	0.458																																																	0													128	131	130					4																	96762049		2203	4300	6503	SO:0001583	missense	0				CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.748C>A	4.37:g.96762049C>A	ENSP00000295266:p.Leu250Ile		B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.L250I	ENST00000295266.4	37	c.748	CCDS3644.1	4	.	.	.	.	.	.	.	.	.	.	C	2.101	-0.406124	0.04832	.	.	ENSG00000163114	ENST00000295266	D	0.95447	-3.71	4.91	3.01	0.34805	Dehydrogenase, E1 component (1);	0.221786	0.36703	N	0.002446	D	0.86628	0.5978	N	0.03268	-0.37	0.20821	N	0.999842	B	0.14012	0.009	B	0.27380	0.079	T	0.73694	-0.3902	10	0.13470	T	0.59	-11.9771	11.7028	0.51581	0.3152:0.6848:0.0:0.0	.	250	P29803	ODPAT_HUMAN	I	250	ENSP00000295266:L250I	ENSP00000295266:L250I	L	+	1	2	PDHA2	96981072	0.563000	0.26594	0.040000	0.18447	0.480000	0.33159	1.227000	0.32576	1.403000	0.46800	0.467000	0.42956	CTA	PDHA2	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	ENSG00000163114		0.458	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHA2	HGNC	protein_coding	OTTHUMT00000253608.1	-	0	34	0	C			96762049	1	tier1	-	no_errors	ENST00000295266	ensembl	human	known	74_37	missense	21.43	22	6	SNP	0.118	A	A	96762049	C	A	96762049	3	1	93	1	0	0	0	0	1	0	0	0	11704	796	28	3	750	3	PDHA2	4	96762049	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	621753	96762049	94392227	30	26820											
GAB1	2549	genome.wustl.edu	37	chr4	144354697	144354697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagctgatttacctttaGctataaatacagcaccacca	14	10	4	13	0	0	1	0	1	0	0	0	1	0	1	4	0	5	3	4	0	6	7			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:144354697G>A	ENST00000262994.4	+	3	723	c.421G>A	c.(421-423)Gct>Act	p.A141T	GAB1_ENST00000262995.4_Missense_Mutation_p.A141T|GAB1_ENST00000505913.1_Missense_Mutation_p.A38T	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	141					activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TTTACCTTTAGCTATAAATAC	0.443																																																	0													144	125	131					4																	144354697		2203	4300	6503	SO:0001583	missense	0			U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"Pleckstrin homology (PH) domain containing"	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.421G>A	4.37:g.144354697G>A	ENSP00000262994:p.Ala141Thr		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A141T	ENST00000262994.4	37	c.421	CCDS3759.1	4	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452585	0.43531	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000514639;ENST00000515366;ENST00000505913;ENST00000509992	T;T;T;T;T	0.30182	2.77;2.77;1.54;2.26;1.54	5.91	3.11	0.35812	.	0.587198	0.19071	N	0.123503	T	0.17492	0.0420	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.21177	-1.0253	10	0.15499	T	0.54	-0.5925	12.8754	0.57988	0.0654:0.5052:0.4294:0.0	.	141;141	Q13480;Q13480-2	GAB1_HUMAN;.	T	141;141;141;38;38;120	ENSP00000262995:A141T;ENSP00000262994:A141T;ENSP00000427435:A141T;ENSP00000424554:A38T;ENSP00000425921:A120T	ENSP00000262994:A141T	A	+	1	0	GAB1	144574147	0.039000	0.19947	0.005000	0.12908	0.252000	0.25951	0.461000	0.21940	0.319000	0.23209	0.655000	0.94253	GCT	GAB1	-	NULL	ENSG00000109458		0.443	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB1	HGNC	protein_coding	OTTHUMT00000364998.1	-	0	74	0	G	NM_002039		144354697	1	tier1	-	no_errors	ENST00000262995	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.040	A	A	144354697	G	A	144354697	3	1	93	1	0	0	0	0	1	0	0	0	6172	971	34	3	431	3	GAB1	4	144354697	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	47592648	144354697	46799579	31	26821											
NPY2R	4887	genome.wustl.edu	37	chr4	156135424	156135424	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttcactcttacctatacCttaatgggggagtggaaaat	11	12	9	9	1	2	0	1	0	1	0	2	2	2	2	3	3	2	1	3	3	6	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:156135424C>G	ENST00000329476.3	+	2	822	c.333C>G	c.(331-333)acC>acG	p.T111T	NPY2R_ENST00000506608.1_Silent_p.T111T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	111					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TTACCTATACCTTAATGGGGG	0.493																																																	0													70	72	72					4																	156135424		2203	4300	6503	SO:0001819	synonymous_variant	0			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"GPCR / Class A : Neuropeptide receptors : Y"	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.333C>G	4.37:g.156135424C>G			Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.T111	ENST00000329476.3	37	c.333	CCDS3791.1	4																																																																																			NPY2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt,prints_NPFF_rcpt	ENSG00000185149		0.493	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1		0	54	0	C	NM_000910		156135424	1			no_errors	ENST00000329476	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.989	G	G	156135424	C	G	156135424	2	3	93	1	0	0	0	0	0	0	0	1	10648	668	24	5		5	NPY2R	4	156135424	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	11780727	156135424	35018852	32	26822											
PALLD	23022	genome.wustl.edu	37	chr4	169815804	169815804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtctttaatattcaggaGccagaagaggaaacagctaa	16	9	9	7	0	2	2	1	0	1	2	2	4	2	4	1	2	3	1	1	2	5	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:169815804G>T	ENST00000505667.1	+	12	2348	c.2175G>T	c.(2173-2175)gaG>gaT	p.E725D	CBR4_ENST00000509108.1_5'UTR|PALLD_ENST00000507735.1_Missense_Mutation_p.E238D|PALLD_ENST00000261509.6_Missense_Mutation_p.E725D|PALLD_ENST00000512127.1_Missense_Mutation_p.E343D|PALLD_ENST00000335742.7_Missense_Mutation_p.E567D			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	949	Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATATTCAGGAGCCAGAAGAGG	0.413									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													87	78	81					4																	169815804		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"Immunoglobulin superfamily / I-set domain containing"	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2175G>T	4.37:g.169815804G>T	ENSP00000425556:p.Glu725Asp		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E725D	ENST00000505667.1	37	c.2175	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396095	0.25205	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000510998;ENST00000393726;ENST00000507735	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;0.29;0.02;0.43;0.26;0.29	5.16	2.37	0.29283	.	.	.	.	.	T	0.47728	0.1461	L	0.52364	1.645	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.08055	0.003;0.001;0.001;0.003	T	0.29549	-1.0008	9	0.16896	T	0.51	.	4.7086	0.12861	0.2456:0.0:0.5802:0.1742	.	725;949;343;725	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	D	725;567;725;343;18;18;238	ENSP00000261509:E725D;ENSP00000336735:E567D;ENSP00000425556:E725D;ENSP00000426947:E343D;ENSP00000422135:E18D;ENSP00000377327:E18D;ENSP00000424016:E238D	ENSP00000261509:E725D	E	+	3	2	PALLD	170052379	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	1.261000	0.32980	1.136000	0.42199	0.585000	0.79938	GAG	PALLD	-	NULL	ENSG00000129116		0.413	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1		0	96	0	G	NM_016081		169815804	1			no_errors	ENST00000261509	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	169815804	G	T	169815804	3	4	93	1	0	0	0	0	1	0	0	0	11446	962	34	3	2724	3	PALLD	4	169815804	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	13680380	169815804	21338472	33	26823											
WDR17	116966	genome.wustl.edu	37	chr4	177061048	177061048	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattttttgaagcatggAacaaatggaatattctgcat	14	15	7	5	0	1	1	0	1	1	0	1	3	1	3	0	2	4	2	0	2	6	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr4:177061048A>T	ENST00000280190.4	+	11	1593	c.1437A>T	c.(1435-1437)ggA>ggT	p.G479G	WDR17_ENST00000393643.2_Silent_p.G455G|WDR17_ENST00000508596.1_Silent_p.G455G|WDR17_ENST00000507824.2_Silent_p.G462G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	479										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGAAGCATGGAACAAATGGAA	0.313																																																	0													160	179	173					4																	177061048		2203	4299	6502	SO:0001819	synonymous_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"WD repeat domain containing"	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1437A>T	4.37:g.177061048A>T			E7EQX0|Q0QD35	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G479	ENST00000280190.4	37	c.1437	CCDS3825.1	4																																																																																			WDR17	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000150627		0.313	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0	81	0	A			177061048	1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T	T	177061048	A	T	177061048	2	4	93	1	0	0	0	0	0	0	0	1	17326	233	9	5		5	WDR17	4	177061048	Silent	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	7245244	177061048	14093228	34	26824											
CDH12	1010	genome.wustl.edu	37	chr5	21751951	21751951	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtcatagtcctggtcggcTtctgtggtgagagagtctat	7	14	13	7	1	3	2	1	1	2	1	5	3	4	2	1	3	0	1	1	3	3	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:21751951T>C	ENST00000382254.1	-	15	3366	c.2280A>G	c.(2278-2280)gaA>gaG	p.E760E	CDH12_ENST00000522262.1_Silent_p.E720E|CDH12_ENST00000504376.2_Silent_p.E760E|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	760					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCTGGTCGGCTTCTGTGGTGA	0.512										HNSCC(59;0.17)																																							0													131	121	124					5																	21751951		2203	4300	6503	SO:0001819	synonymous_variant	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2280A>G	5.37:g.21751951T>C			B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E760	ENST00000382254.1	37	c.2280	CCDS3890.1	5																																																																																			CDH12	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000154162		0.512	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	100	0	T	NM_004061		21751951	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	silent	8.93	51	5	SNP	0.265	C	C	21751951	T	C	21751951	2	2	93	1	0	0	0	0	0	0	0	1	3105	1606	56	4		4	CDH12	5	21751951	Silent	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09		21751951	159163309	35	26825											
CDH6	1004	genome.wustl.edu	37	chr5	31299614	31299614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacatggatcgagaaaacagGgagcagtaccaagtggtgat	16	6	13	6	1	0	2	0	1	0	1	1	5	0	4	1	3	4	2	1	3	5	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:31299614G>C	ENST00000265071.2	+	5	952	c.687G>C	c.(685-687)agG>agC	p.R229S	CDH6_ENST00000514738.1_Missense_Mutation_p.R174S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	229	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGAAAACAGGGAGCAGTACC	0.453																																																	0													149	140	143					5																	31299614		2203	4300	6503	SO:0001583	missense	0			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"Cadherins / Major cadherins"	1765	protein-coding gene	gene with protein product	"K-Cadherin"	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.687G>C	5.37:g.31299614G>C	ENSP00000265071:p.Arg229Ser		A8K5H5|Q9BWS0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R229S	ENST00000265071.2	37	c.687	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695163	0.48202	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.52526	0.66;0.66	6.07	2.72	0.32119	Cadherin (4);Cadherin-like (1);	0.129681	0.64402	D	0.000002	T	0.30008	0.0751	N	0.11154	0.105	0.44194	D	0.997015	B;P	0.44690	0.137;0.841	B;B	0.43331	0.084;0.416	T	0.15723	-1.0427	10	0.87932	D	0	.	9.3476	0.38118	0.351:0.0:0.649:0.0	.	229;229	P55285;P55285-2	CADH6_HUMAN;.	S	174;229	ENSP00000424843:R174S;ENSP00000265071:R229S	ENSP00000265071:R229S	R	+	3	2	CDH6	31335371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.562000	0.36353	0.791000	0.33826	0.655000	0.94253	AGG	CDH6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113361		0.453	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	-	0	84	0	G	NM_004932		31299614	1	tier1	-	no_errors	ENST00000265071	ensembl	human	known	74_37	missense	20.63	50	13	SNP	1.000	C	C	31299614	G	C	31299614	3	2	93	1	0	0	0	0	1	0	0	0	3121	1223	43	5	701	5	CDH6	5	31299614	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	9547663	31299614	149615646	36	26826											
NSA2	10412	genome.wustl.edu	37	chr5	74066483	74066483	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaagtccctctgcctaaaGtacgtgcccagggagaaaca	12	6	12	11	1	1	1	0	0	1	1	2	3	2	2	3	2	4	1	3	2	5	2	rs185653889		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:74066483G>T	ENST00000296802.5	+	4	739	c.370G>T	c.(370-372)Gta>Tta	p.V124L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	124	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						TCTGCCTAAAGTACGTGCCCA	0.353																																																	0													77	80	79					5																	74066483		2203	4300	6503	SO:0001583	missense	0			AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"hairy cell leukemia protein 1", "TGF beta-inducible nuclear protein 1"	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.370G>T	5.37:g.74066483G>T	ENSP00000296802:p.Val124Leu			Missense_Mutation	SNP	pfam_Ribosomal_S8e/biogenesis_NSA2	p.V124L	ENST00000296802.5	37	c.370	CCDS4025.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.194925|5.194925	0.94960|0.94960	.|.	.|.	ENSG00000164346|ENSG00000164346	ENST00000515524|ENST00000296802	.|T	.|0.58506	.|0.33	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83069|0.83069	0.5174|0.5174	M|M	0.93197|0.93197	3.39|3.39	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|D	.|0.79108	.|0.992	D|D	0.87114|0.87114	0.2187|0.2187	5|10	.|0.87932	.|D	.|0	.|.	19.577|19.577	0.95449|0.95449	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|124	.|O95478	.|NSA2_HUMAN	I|L	32|124	.|ENSP00000296802:V124L	.|ENSP00000296802:V124L	S|V	+|+	2|1	0|0	NSA2|NSA2	74102239|74102239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.302000|9.302000	0.96175|0.96175	2.693000|2.693000	0.91896|0.91896	0.650000|0.650000	0.86243|0.86243	AGT|GTA	NSA2	-	pfam_Ribosomal_S8e/biogenesis_NSA2	ENSG00000164346		0.353	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSA2	HGNC	protein_coding	OTTHUMT00000254041.3		0	94	0	G	NM_014886		74066483	1			no_errors	ENST00000296802	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	74066483	G	T	74066483	3	4	93	1	0	0	0	0	1	0	0	0	10707	1029	36	3	384	3	NSA2	5	74066483	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	42766869	74066483	106848777	37	26827											
ANKRD32	84250	genome.wustl.edu	37	chr5	94005956	94005956	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttttctttaatttaattGaaagtgaagtacaacatctg	15	17	5	4	0	2	2	0	2	2	0	2	2	2	2	0	0	2	1	0	0	7	8			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:94005956G>T	ENST00000265140.5	+	13	2052	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	545						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TAATTTAATTGAAAGTGAAGT	0.308																																																	0													40	34	36					5																	94005956		692	1590	2282	SO:0001587	stop_gained	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1633G>T	5.37:g.94005956G>T	ENSP00000265140:p.Glu545*		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E545*	ENST00000265140.5	37	c.1633	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	41	8.916900	0.99002	.	.	ENSG00000133302	ENST00000265140	.	.	.	5.87	3.86	0.44501	.	0.119957	0.37857	N	0.001902	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	4.6118	0.12406	0.3527:0.0:0.6473:0.0	.	.	.	.	X	545	.	ENSP00000265140:E545X	E	+	1	0	ANKRD32	94031712	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.032000	0.41127	1.481000	0.48307	0.591000	0.81541	GAA	ANKRD32	-	NULL	ENSG00000133302		0.308	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1		0	46	0	G	NM_032290		94005956	1			no_errors	ENST00000265140	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T	T	94005956	G	T	94005956	4	4	93	1	0	0	0	0	0	1	0	0	660	1291	45	3	1679	3	ANKRD32	5	94005956	Nonsense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	19939473	94005956	86909304	38	26828											
CDKN2AIPNL	91368	genome.wustl.edu	37	chr5	133747417	133747417	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggcaggtggcgcaggatGaattccatgcgggccttcca	7	8	15	11	3	0	1	0	1	0	0	3	2	2	2	3	5	1	2	3	5	1	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:133747417G>A	ENST00000458198.2	-	1	172	c.129C>T	c.(127-129)ttC>ttT	p.F43F	CDKN2AIPNL_ENST00000395009.3_Silent_p.F43F	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	43										central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCGCAGGATGAATTCCATGC	0.662											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16	21	19					5																	133747417		2201	4296	6497	SO:0001819	synonymous_variant	0			BC008293	CCDS4175.1	5q31.1	2008-02-05			ENSG00000237190	ENSG00000237190			30545	protein-coding gene	gene with protein product						12477932	Standard	NM_080656		Approved	MGC13017	uc011cxs.2	Q96HQ2	OTTHUMG00000129123	ENST00000458198.2:c.129C>T	5.37:g.133747417G>A		1605	Q8WVE3	Silent	SNP	pfam_DUF3469	p.F43	ENST00000458198.2	37	c.129	CCDS4175.1	5																																																																																			CDKN2AIPNL	-	pfam_DUF3469	ENSG00000237190		0.662	CDKN2AIPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIPNL	HGNC	protein_coding	OTTHUMT00000251171.2	-	0	55	0	G	NM_080656		133747417	-1	tier1	-	no_errors	ENST00000458198	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	A	A	133747417	G	A	133747417	2	1	93	1	0	0	0	0	0	0	0	1	3170	1281	45	3		3	CDKN2AIPNL	5	133747417	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	39741461	133747417	47167843	39	26829											
MATR3	9782	genome.wustl.edu	37	chr5	138658285	138658285	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgtccttttgatttcAgaaaaagatcttactctcca	10	16	7	8	0	3	3	1	1	2	2	5	3	4	3	2	1	1	0	2	1	3	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:138658285A>C	ENST00000394805.3	+	12	2113		c.e12-1		MATR3_ENST00000502929.1_Splice_Site|MATR3_ENST00000361059.2_Splice_Site|MATR3_ENST00000510056.1_Splice_Site|MATR3_ENST00000504203.1_Splice_Site|MATR3_ENST00000503811.1_Splice_Site|MATR3_ENST00000502499.1_Splice_Site|MATR3_ENST00000394800.2_Splice_Site|MATR3_ENST00000509990.1_Splice_Site	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3						cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTTGATTTCAGAAAAAGATC	0.343																																																	0													76	78	77					5																	138658285		2202	4299	6501	SO:0001630	splice_region_variant	0			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"myopathy, distal 2"	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1779-1A>C	5.37:g.138658285A>C			B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Splice_Site	SNP	-	e11-2	ENST00000394805.3	37	c.1779-2	CCDS4210.1	5	.	.	.	.	.	.	.	.	.	.	A	10.29	1.310492	0.23821	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4317	0.75105	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MATR3	138686184	0.998000	0.40836	0.949000	0.38748	0.200000	0.23975	4.388000	0.59633	2.030000	0.59900	0.533000	0.62120	.	MATR3	-	-	ENSG00000015479		0.343	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2		0	51	0	A	NM_018834	Intron	138658285	1			no_errors	ENST00000361059	ensembl	human	known	74_37	splice_site	11.90	37	5	SNP	0.993	C	C	138658285	A	C	138658285	5	2	93	1	0	0	0	0	0	0	1	0	9375	202	7	4	1819	4	MATR3	5	138658285	Splice_Site	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	4910868	138658285	42256975	40	26830											
PCDHB4	56131	genome.wustl.edu	37	chr5	140502330	140502330	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actccatatggggtgcaggtCctggaaaacagccccctaga	11	7	11	12	0	0	1	0	0	0	1	2	2	2	2	4	4	3	1	4	4	4	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:140502330C>A	ENST00000194152.1	+	1	750	c.750C>A	c.(748-750)gtC>gtA	p.V250V	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTGCAGGTCCTGGAAAACA	0.483																																																	0													103	109	107					5																	140502330		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.750C>A	5.37:g.140502330C>A			Q4V761	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V250	ENST00000194152.1	37	c.750	CCDS4246.1	5																																																																																			PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000081818		0.483	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0	68	0	C	NM_018938		140502330	1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	17.95	32	7	SNP	0.009	A	A	140502330	C	A	140502330	2	1	93	1	0	0	0	0	0	0	0	1	11583	842	30	3		3	PCDHB4	5	140502330	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	1844045	140502330	40412930	41	26831											
GRIA1	2890	genome.wustl.edu	37	chr5	153149892	153149892	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgagtacattgagcagcgGaaaccctgtgacaccatgaa	15	7	10	9	1	0	4	0	4	0	0	0	5	0	5	2	1	4	2	2	1	4	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:153149892G>T	ENST00000285900.5	+	13	2530	c.2187G>T	c.(2185-2187)cgG>cgT	p.R729R	GRIA1_ENST00000448073.4_Silent_p.R739R|GRIA1_ENST00000518142.1_Silent_p.R649R|GRIA1_ENST00000518783.1_Silent_p.R739R|GRIA1_ENST00000340592.5_Silent_p.R729R|GRIA1_ENST00000521843.2_Silent_p.R660R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	729					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGAGCAGCGGAAACCCTGTG	0.507																																																	0													113	96	101					5																	153149892		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2187G>T	5.37:g.153149892G>T			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R739	ENST00000285900.5	37	c.2217	CCDS4322.1	5																																																																																			GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000155511		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0	92	0	G			153149892	1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	153149892	G	T	153149892	2	4	93	1	0	0	0	0	0	0	0	1	6794	1161	41	3		3	GRIA1	5	153149892	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	12647562	153149892	27765368	42	26832											
ATP10B	23120	genome.wustl.edu	37	chr5	159996679	159996679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgaggagcacgactccGtggaaaatggtctgtggagg	9	7	16	9	3	1	0	0	0	1	0	2	5	2	3	2	5	2	1	2	5	2	0			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:159996679G>A	ENST00000327245.5	-	25	4608	c.3762C>T	c.(3760-3762)caC>caT	p.H1254H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1254					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACGACTCCGTGGAAAATGG	0.478																																																	0													52	57	55					5																	159996679		2053	4210	6263	SO:0001819	synonymous_variant	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3762C>T	5.37:g.159996679G>A			Q9H725	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.H1254	ENST00000327245.5	37	c.3762	CCDS43394.1	5																																																																																			ATP10B	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1		0	33	0	G	NM_025153		159996679	-1			no_errors	ENST00000327245	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.101	A	A	159996679	G	A	159996679	2	1	93	1	0	0	0	0	0	0	0	1	1118	1136	40	1		1	ATP10B	5	159996679	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	6846787	159996679	20918581	43	26833											
DOCK2	1794	genome.wustl.edu	37	chr5	169412843	169412843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcaggacttcttgatGgagaccttcatcatgttcaa	9	16	8	8	0	5	2	4	1	1	1	5	4	5	3	1	2	0	2	1	2	1	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:169412843G>T	ENST00000256935.8	+	29	2990	c.2910G>T	c.(2908-2910)atG>atT	p.M970I	DOCK2_ENST00000520908.1_Missense_Mutation_p.M462I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.M31I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	970	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTCTTGATGGAGACCTTCA	0.433																																																	0													245	226	232					5																	169412843		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2910G>T	5.37:g.169412843G>T	ENSP00000256935:p.Met970Ile		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.M970I	ENST00000256935.8	37	c.2910	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466718	0.63625	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.25579	1.79;1.79;1.79	5.19	5.19	0.71726	.	0.039551	0.85682	D	0.000000	T	0.39332	0.1074	L	0.38838	1.175	0.58432	D	0.999998	P;P	0.50528	0.664;0.936	B;P	0.61201	0.217;0.885	T	0.03463	-1.1034	10	0.25751	T	0.34	.	18.7481	0.91802	0.0:0.0:1.0:0.0	.	462;970	E7ERW7;Q92608	.;DOCK2_HUMAN	I	970;462;31	ENSP00000256935:M970I;ENSP00000429283:M462I;ENSP00000438827:M31I	ENSP00000256935:M970I	M	+	3	0	DOCK2	169345421	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.813000	0.99286	2.426000	0.82243	0.561000	0.74099	ATG	DOCK2	-	superfamily_ARM-type_fold	ENSG00000134516		0.433	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0	81	0	G	NM_004946		169412843	1			no_errors	ENST00000256935	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	169412843	G	T	169412843	3	4	93	1	0	0	0	0	1	0	0	0	4701	1348	47	3	3024	3	DOCK2	5	169412843	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	9416164	169412843	11502417	44	26834											
RASGEF1C	255426	genome.wustl.edu	37	chr5	179564942	179564942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggaggctgaggatggCgctccatccaggaggggctg	7	6	18	10	1	0	1	0	1	0	0	3	4	3	4	3	7	0	3	3	7	0	0			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr5:179564942C>T	ENST00000393371.2	-	1	407	c.111G>A	c.(109-111)gcG>gcA	p.A37A	RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Silent_p.A37A|RASGEF1C_ENST00000522500.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	37	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAGGATGGCGCTCCATCCA	0.677																																																	0													56	52	53					5																	179564942		2203	4299	6502	SO:0001819	synonymous_variant	0			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.111G>A	5.37:g.179564942C>T			D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A37	ENST00000393371.2	37	c.111	CCDS4452.1	5																																																																																			RASGEF1C	-	superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000146090		0.677	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	-	0	51	0	C	NM_175062		179564942	-1	tier1	-	no_errors	ENST00000361132	ensembl	human	known	74_37	silent	26.47	25	9	SNP	0.998	T	T	179564942	C	T	179564942	2	4	93	1	0	0	0	0	0	0	0	1	13116	755	27	1		1	RASGEF1C	5	179564942	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	10152099	179564942	1350318	45	26835											
GPRC6A	222545	genome.wustl.edu	37	chr6	117127659	117127659	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggctcagcatagtcccaGaggaagtcatttctcatgac	10	10	9	12	0	3	2	3	1	1	1	5	3	4	3	2	2	1	2	2	2	2	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr6:117127659G>A	ENST00000310357.3	-	3	1230	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	GPRC6A_ENST00000368549.3_Silent_p.L403L|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	403					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CATAGTCCCAGAGGAAGTCAT	0.443																																																	0													121	108	112					6																	117127659		2203	4299	6502	SO:0001819	synonymous_variant	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1209C>T	6.37:g.117127659G>A			Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Silent	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.L403	ENST00000310357.3	37	c.1209	CCDS5112.1	6																																																																																			GPRC6A	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000173612		0.443	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	-	0	97	0	G			117127659	-1	tier1	-	no_errors	ENST00000310357	ensembl	human	known	74_37	silent	9.88	73	8	SNP	0.113	A	A	117127659	G	A	117127659	2	1	93	1	0	0	0	0	0	0	0	1	6755	929	33	3		3	GPRC6A	6	117127659	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09		117127659	53987408	46	26836											
RBAK	57786	genome.wustl.edu	37	chr7	5104054	5104054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctataaatgtaatgaatgtGggaaaaccttttgtcagaag	15	12	9	5	0	1	2	1	1	0	1	1	3	1	3	2	1	1	1	2	1	8	5	rs551440532		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:5104054G>C	ENST00000353796.3	+	6	1291	c.967G>C	c.(967-969)Ggg>Cgg	p.G323R	RBAK_ENST00000396912.1_Missense_Mutation_p.G323R|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	323					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TAATGAATGTGGGAAAACCTT	0.428																																																	0													88	90	89					7																	5104054		2203	4300	6503	SO:0001583	missense	0			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.967G>C	7.37:g.5104054G>C	ENSP00000275423:p.Gly323Arg		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G323R	ENST00000353796.3	37	c.967	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416819	0.62511	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.01484	4.84;4.84	3.61	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.121727	0.37906	N	0.001886	T	0.08268	0.0206	M	0.77820	2.39	0.40644	D	0.981977	D	0.89917	1.0	D	0.97110	1.0	T	0.06935	-1.0799	8	.	.	.	.	8.9713	0.35908	0.1144:0.0:0.8856:0.0	.	323	Q9NYW8	RBAK_HUMAN	R	323	ENSP00000275423:G323R;ENSP00000380120:G323R	.	G	+	1	0	RBAK	5070580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.894000	0.69806	1.096000	0.41439	0.555000	0.69702	GGG	RBAK	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000146587		0.428	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2		0	42	0	G	NM_021163		5104054	1			no_errors	ENST00000353796	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	C	C	5104054	G	C	5104054	3	2	93	1	0	0	0	0	1	0	0	0	13145	1348	47	5	981	5	RBAK	7	5104054	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09		5104054	154034609	47	26837											
HNRNPA2B1	3181	genome.wustl.edu	37	chr7	26233231	26233231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccacctccgtagccccCaccctggttgccatatccag	9	8	6	18	1	0	0	0	0	0	0	2	0	2	0	8	1	3	2	8	1	3	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:26233231C>T	ENST00000354667.4	-	9	1009	c.841G>A	c.(841-843)Ggg>Agg	p.G281R	HNRNPA2B1_ENST00000476233.1_5'Flank|HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.G269R	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	281	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CCGTAGCCCCCACCCTGGTTG	0.458			T	ETV1	prostate																																			Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0													113	110	111					7																	26233231		2203	4300	6503	SO:0001583	missense	0			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"RNA binding motif (RRM) containing"	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.841G>A	7.37:g.26233231C>T	ENSP00000346694:p.Gly281Arg		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.G281R	ENST00000354667.4	37	c.841	CCDS43557.1	7	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315197	0.60524	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	D;D	0.86627	-2.15;-2.15	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	D	0.92140	0.7508	M	0.67569	2.06	0.50039	D	0.999841	D;D	0.62365	0.989;0.991	D;P	0.66847	0.947;0.887	D	0.87852	0.2658	10	0.15066	T	0.55	.	20.2544	0.98414	0.0:1.0:0.0:0.0	.	269;281	P22626-2;P22626	.;ROA2_HUMAN	R	281;269	ENSP00000346694:G281R;ENSP00000349101:G269R	ENSP00000346694:G281R	G	-	1	0	HNRNPA2B1	26199756	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	7.416000	0.80143	2.885000	0.99019	0.655000	0.94253	GGG	HNRNPA2B1	-	NULL	ENSG00000122566		0.458	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	HGNC	protein_coding	OTTHUMT00000214109.1	-	0	139	0	C	NM_002137		26233231	-1	tier1	-	no_errors	ENST00000354667	ensembl	human	known	74_37	missense	8.04	103	9	SNP	1.000	T	T	26233231	C	T	26233231	3	4	93	1	0	0	0	0	1	0	0	0	7286	594	21	3	232	3	HNRNPA2B1	7	26233231	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	21129177	26233231	132905432	48	26838											
MUC17	140453	genome.wustl.edu	37	chr7	100696339	100696339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagaagagtctggtgtaCggcctcgtgggggcaggggt	7	7	18	9	2	1	2	0	0	1	2	2	2	1	2	2	6	1	2	2	6	2	1	rs141631949	byFrequency	TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:100696339C>T	ENST00000306151.4	+	10	13240	c.13176C>T	c.(13174-13176)taC>taT	p.Y4392Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4392					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCTGGTGTACGGCCTCGTGG	0.597													c|||	15	0.00299521	0.0113	0	5008	,	,		18164	0		0	False		,,,				2504	0																0								T		66,4340	61.7+/-98.7	1,64,2138	90	79	83		13176	-5.6	0	7	dbSNP_134	83	0,8600		0,0,4300	no	coding-synonymous	MUC17	NM_001040105.1		1,64,6438	TT,TC,CC		0.0,1.498,0.5075		4392/4494	100696339	66,12940	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13176C>T	7.37:g.100696339C>T			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.Y4392	ENST00000306151.4	37	c.13176	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.597	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1		0	40	0	C	NM_001040105		100696339	1			no_errors	ENST00000306151	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.038	T	T	100696339	C	T	100696339	2	4	93	1	0	0	0	0	0	0	0	1	10012	547	19	1		1	MUC17	7	100696339	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	74463108	100696339	58442324	49	26839											
MLL5	55904	genome.wustl.edu	37	chr7	104702724	104702724	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacattggtttgccctatgCggtaagtgttaaacacttct	9	16	8	8	1	1	0	0	0	1	0	1	0	1	0	1	2	4	3	1	2	5	7			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:104702724C>T	ENST00000311117.3	+	4	730	c.185C>T	c.(184-186)gCg>gTg	p.A62V	KMT2E_ENST00000257745.4_Splice_Site_p.A62V|KMT2E_ENST00000334877.4_Splice_Site_p.A62V|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Splice_Site_p.A62V	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	62					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TTGCCCTATGCGGTAAGTGTT	0.383																																																	0													128	117	121					7																	104702724		2203	4300	6503	SO:0001630	splice_region_variant	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.186+1C>T	7.37:g.104702724C>T			B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.A62V	ENST00000311117.3	37	c.185	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.643767	0.96704	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000474203	D;D;D;T;D	0.94457	-3.08;-2.67;-3.08;1.36;-3.43	5.9	5.9	0.94986	.	0.053521	0.85682	D	0.000000	D	0.96522	0.8865	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	D	0.96486	0.9360	10	0.72032	D	0.01	.	20.2786	0.98501	0.0:1.0:0.0:0.0	.	62;62	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	V	62	ENSP00000312379:A62V;ENSP00000335599:A62V;ENSP00000257745:A62V;ENSP00000420415:A62V;ENSP00000417888:A62V	ENSP00000257745:A62V	A	+	2	0	MLL5	104489960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.799000	0.96334	0.650000	0.86243	GCG	KMT2E	-	NULL	ENSG00000005483		0.383	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	82	0	C		Missense_Mutation	104702724	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	8.45	65	6	SNP	1.000	T	T	104702724	C	T	104702724	5	4	93	1	0	0	0	0	0	0	1	0	9662	782	27	1	191	1	MLL5	7	104702724	Splice_Site	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	4006385	104702724	54435939	50	26840											
CTTNBP2	83992	genome.wustl.edu	37	chr7	117501265	117501265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgtgtcgtccttacccGcagggcctcgatgacaaggt	6	10	11	14	3	0	1	0	1	0	0	4	2	2	1	4	2	1	1	4	2	2	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:117501265G>A	ENST00000160373.3	-	2	278	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	63					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTCCTTACCCGCAGGGCCTCG	0.483																																																	0													55	43	47					7																	117501265		2203	4300	6503	SO:0001583	missense	0				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"Ankyrin repeat domain containing"	15679	protein-coding gene	gene with protein product		609772	"cortactin binding protein 2"	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.187C>T	7.37:g.117501265G>A	ENSP00000160373:p.Arg63Trp		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R63W	ENST00000160373.3	37	c.187	CCDS5774.1	7	.	.	.	.	.	.	.	.	.	.	G	19.01	3.742961	0.69418	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.63	0.655	0.17839	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.67953	2.075	0.58432	D	0.999994	D	0.71674	0.998	D	0.64595	0.927	T	0.69094	-0.5236	10	0.87932	D	0	-0.2303	15.2708	0.73699	0.0:0.0:0.3934:0.6066	.	63	Q8WZ74	CTTB2_HUMAN	W	63;21;21;21	ENSP00000160373:R63W;ENSP00000396014:R21W;ENSP00000405831:R21W;ENSP00000393373:R21W	ENSP00000160373:R63W	R	-	1	2	CTTNBP2	117288501	0.998000	0.40836	1.000000	0.80357	0.818000	0.46254	0.440000	0.21592	0.304000	0.22809	0.591000	0.81541	CGG	CTTNBP2	-	pfam_Cortactin-binding_p2_N	ENSG00000077063		0.483	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	-	0	21	0	G	NM_033427		117501265	-1	tier1	-	no_errors	ENST00000160373	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A	A	117501265	G	A	117501265	3	1	93	1	0	0	0	0	1	0	0	0	4054	1086	38	1	4892	1	CTTNBP2	7	117501265	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	12798541	117501265	41637398	51	26841											
CHCHD3	54927	genome.wustl.edu	37	chr7	132754950	132754950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagacttcgaaccagatgGagaggattccttcattcgat	11	11	10	9	2	1	3	1	1	0	3	4	8	2	4	2	2	1	0	2	2	1	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:132754950G>T	ENST00000262570.5	-	2	265	c.121C>A	c.(121-123)Cca>Aca	p.P41T	CHCHD3_ENST00000542753.1_Missense_Mutation_p.P41T|CHCHD3_ENST00000476546.1_Intron|CHCHD3_ENST00000448878.1_Missense_Mutation_p.P41T	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	41					inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GAACCAGATGGAGAGGATTCC	0.358																																																	0													83	74	77					7																	132754950		2203	4300	6503	SO:0001583	missense	0			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"Coiled-coil-helix-coiled-coil-helix domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	21906	protein-coding gene	gene with protein product	"mitochondrial inner membrane organizing system 3", "protein phosphatase 1, regulatory subunit 22"	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.121C>A	7.37:g.132754950G>T	ENSP00000262570:p.Pro41Thr			Missense_Mutation	SNP	pfam_DUF737	p.P41T	ENST00000262570.5	37	c.121	CCDS5828.1	7	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392975	0.42410	.	.	ENSG00000106554	ENST00000262570;ENST00000448878;ENST00000542753	T;T;T	0.41758	0.99;0.99;0.99	6.03	3.19	0.36642	.	0.160356	0.56097	D	0.000026	T	0.36303	0.0962	L	0.56396	1.775	0.47905	D	0.999548	B;B;B	0.32653	0.314;0.379;0.167	B;B;B	0.34536	0.05;0.185;0.081	T	0.06516	-1.0822	10	0.26408	T	0.33	-0.7277	8.2575	0.31765	0.0798:0.2992:0.6209:0.0	.	41;41;41	G3V1K1;C9JRZ6;Q9NX63	.;.;CHCH3_HUMAN	T	41	ENSP00000262570:P41T;ENSP00000389297:P41T;ENSP00000440267:P41T	ENSP00000262570:P41T	P	-	1	0	CHCHD3	132405490	0.998000	0.40836	0.993000	0.49108	0.995000	0.86356	0.777000	0.26718	0.407000	0.25591	-0.176000	0.13171	CCA	CHCHD3	-	pfam_DUF737	ENSG00000106554		0.358	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHCHD3	HGNC	protein_coding	OTTHUMT00000338899.1	-	0	61	0	G	NM_017812		132754950	-1	tier1	-	no_errors	ENST00000423635	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	132754950	G	T	132754950	3	4	93	1	0	0	0	0	1	0	0	0	3324	1174	41	3	590	3	CHCHD3	7	132754950	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	15253685	132754950	26383713	52	26842											
CHRM2	1129	genome.wustl.edu	37	chr7	136700565	136700565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccattccaaagatgAgaactctaagcaaacatgca	15	7	8	11	0	1	2	0	1	1	2	2	3	2	2	3	1	4	2	3	1	4	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:136700565A>G	ENST00000445907.2	+	3	1481	c.953A>G	c.(952-954)gAg>gGg	p.E318G	hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.E318G|CHRM2_ENST00000402486.3_Missense_Mutation_p.E318G|CHRM2_ENST00000401861.1_Missense_Mutation_p.E318G|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.E318G|CHRM2_ENST00000320658.5_Missense_Mutation_p.E318G	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	318					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCCAAAGATGAGAACTCTAAG	0.468																																																	0													97	99	98					7																	136700565		2203	4300	6503	SO:0001583	missense	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1951	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 2"	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.953A>G	7.37:g.136700565A>G	ENSP00000399745:p.Glu318Gly		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.E318G	ENST00000445907.2	37	c.953	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	A	6.986	0.551949	0.13374	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.180851	0.37012	N	0.002300	T	0.35828	0.0945	N	0.04508	-0.205	0.36960	D	0.893275	B	0.02656	0.0	B	0.09377	0.004	T	0.33033	-0.9884	10	0.23302	T	0.38	-5.9838	15.427	0.75061	1.0:0.0:0.0:0.0	.	318	P08172	ACM2_HUMAN	G	318	ENSP00000399745:E318G;ENSP00000415386:E318G;ENSP00000319984:E318G;ENSP00000380733:E318G;ENSP00000384937:E318G;ENSP00000384401:E318G	ENSP00000319984:E318G	E	+	2	0	CHRM2	136351105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.169000	0.58223	2.055000	0.61198	0.533000	0.62120	GAG	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt	ENSG00000181072		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	-	0	58	0	A			136700565	1	tier1	-	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	17.07	34	7	SNP	1.000	G	G	136700565	A	G	136700565	3	3	93	1	0	0	0	0	1	0	0	0	3384	304	11	4	955	4	CHRM2	7	136700565	Missense_Mutation	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	3945615	136700565	22438098	53	26843											
KIAA1549	57670	genome.wustl.edu	37	chr7	138603609	138603609	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatgactgtaagcatcagTaggataaagcaccaaattcc	17	9	7	8	0	1	1	1	1	0	0	2	2	2	2	2	1	2	4	2	1	7	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:138603609T>G	ENST00000422774.1	-	2	811	c.763A>C	c.(763-765)Act>Cct	p.T255P	KIAA1549_ENST00000242365.4_Missense_Mutation_p.T205P|KIAA1549_ENST00000440172.1_Missense_Mutation_p.T255P			Q9HCM3	K1549_HUMAN	KIAA1549	255						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TAAGCATCAGTAGGATAAAGC	0.488			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													80	81	80					7																	138603609		1990	4150	6140	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.763A>C	7.37:g.138603609T>G	ENSP00000416040:p.Thr255Pro		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.T255P	ENST00000422774.1	37	c.763	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690157	0.48097	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.35236	1.32;1.32;1.32	4.89	-0.594	0.11664	.	0.601203	0.14824	N	0.296282	T	0.17408	0.0418	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.13415	-1.0510	10	0.35671	T	0.21	.	3.8759	0.09056	0.1246:0.0807:0.4659:0.3287	.	255;255	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	255;205;255	ENSP00000406661:T255P;ENSP00000242365:T205P;ENSP00000416040:T255P	ENSP00000242365:T205P	T	-	1	0	KIAA1549	138254149	0.024000	0.19004	0.041000	0.18516	0.931000	0.56810	-0.240000	0.08952	-0.238000	0.09724	-0.396000	0.06452	ACT	KIAA1549	-	NULL	ENSG00000122778		0.488	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	-	0	32	0	T			138603609	-1	tier1	-	no_errors	ENST00000422774	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.013	G	G	138603609	T	G	138603609	3	3	93	1	0	0	0	0	1	0	0	0	8271	1638	57	4	5165	4	KIAA1549	7	138603609	Missense_Mutation	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09	1903044	138603609	20535054	54	26844											
KCNH2	3757	genome.wustl.edu	37	chr7	150647326	150647326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagatgaagtacagggcggtGagcaggtccccagcatgcac	11	5	15	10	1	0	3	0	2	0	1	1	4	1	3	2	3	4	4	2	3	2	1	rs8179015		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr7:150647326G>A	ENST00000262186.5	-	9	2729	c.2328C>T	c.(2326-2328)ctC>ctT	p.L776L	KCNH2_ENST00000330883.4_Silent_p.L436L|KCNH2_ENST00000430723.3_Silent_p.L776L|KCNH2_ENST00000392968.2_Silent_p.L680L	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	776					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACAGGGCGGTGAGCAGGTCCC	0.672																																					GBM(137;110 1844 13671 20123 45161)												0													89	71	77					7																	150647326		2203	4300	6503	SO:0001819	synonymous_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2328C>T	7.37:g.150647326G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.L776	ENST00000262186.5	37	c.2328	CCDS5910.1	7																																																																																			KCNH2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000055118		0.672	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0	86	0	G	NM_000238		150647326	-1	tier1	-	no_errors	ENST00000262186	ensembl	human	known	74_37	silent	11.11	56	7	SNP	1.000	A	A	150647326	G	A	150647326	2	1	93	1	0	0	0	0	0	0	0	1	8059	1277	45	3		3	KCNH2	7	150647326	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	12043717	150647326	8491337	55	26845											
FAM160B2	64760	genome.wustl.edu	37	chr8	21959806	21959806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccccggctgcaggagcCtattctccgtgttggtgagg	4	10	15	12	2	1	1	0	1	1	0	2	2	1	2	4	5	2	3	4	5	1	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr8:21959806C>T	ENST00000289921.7	+	15	2018	c.1972C>T	c.(1972-1974)Cta>Tta	p.L658L		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	658										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CTGCAGGAGCCTATTCTCCGT	0.637																																																	0													51	54	53					8																	21959806		2011	4156	6167	SO:0001819	synonymous_variant	0			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"retinoic acid induced 16"	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1972C>T	8.37:g.21959806C>T			B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Silent	SNP	pfam_RetinoicA-induced_16-like	p.L658	ENST00000289921.7	37	c.1972	CCDS6021.2	8																																																																																			FAM160B2	-	NULL	ENSG00000158863		0.637	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	-	0	85	0	C			21959806	1	tier1	-	no_errors	ENST00000289921	ensembl	human	known	74_37	silent	17.65	56	12	SNP	1.000	T	T	21959806	C	T	21959806	2	4	93	1	0	0	0	0	0	0	0	1	5490	680	24	3		3	FAM160B2	8	21959806	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		21959806	124404216	56	26846											
NRG1	3084	genome.wustl.edu	37	chr8	32463100	32463100	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagtcagaacttcgcattaAcaaagcatcactggctgatt	14	10	8	9	1	2	2	2	1	0	1	3	3	2	2	0	1	3	3	0	1	4	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr8:32463100A>T	ENST00000405005.3	+	3	299	c.299A>T	c.(298-300)aAc>aTc	p.N100I	NRG1_ENST00000521670.1_Missense_Mutation_p.N100I|NRG1_ENST00000519301.1_Missense_Mutation_p.N79I|NRG1_ENST00000356819.4_Missense_Mutation_p.N100I|NRG1_ENST00000287845.5_Missense_Mutation_p.N100I|NRG1_ENST00000520407.1_Missense_Mutation_p.N315I|NRG1_ENST00000287842.3_Missense_Mutation_p.N100I|NRG1_ENST00000338921.4_Missense_Mutation_p.N100I|NRG1_ENST00000523079.1_Missense_Mutation_p.N100I|NRG1_ENST00000341377.5_Missense_Mutation_p.N100I			Q02297	NRG1_HUMAN	neuregulin 1	100	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTCGCATTAACAAAGCATCA	0.378																																																	0													174	158	164					8																	32463100		2203	4300	6503	SO:0001583	missense	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"Immunoglobulin superfamily / I-set domain containing"	7997	protein-coding gene	gene with protein product		142445	"NRG1 intronic transcript 2 (non-protein coding)"	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.299A>T	8.37:g.32463100A>T	ENSP00000384620:p.Asn100Ile		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.N100I	ENST00000405005.3	37	c.299	CCDS6085.1	8	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279415	0.23307	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000520407;ENST00000523534;ENST00000523079;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000341377;ENST00000287842;ENST00000405005;ENST00000521670	T;T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.8	-4.65	0.03339	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.942027	0.09093	N	0.849541	T	0.56863	0.2014	L	0.34521	1.04	0.24874	N	0.992263	P;B;B;B;B;P;B;P;B;B;B;P	0.50943	0.459;0.21;0.154;0.25;0.351;0.459;0.127;0.724;0.27;0.27;0.404;0.94	B;B;B;B;B;B;B;P;B;B;B;P	0.46758	0.157;0.068;0.143;0.231;0.239;0.295;0.071;0.511;0.109;0.239;0.353;0.526	T	0.57528	-0.7796	10	0.48119	T	0.1	-1.5477	11.4391	0.50086	0.4381:0.0938:0.4681:0.0	.	100;100;100;99;99;100;100;100;100;100;100;315	E9PHH4;F8W9E3;Q7RTW4;B0FYA9;B0FWZ3;B7Z4Z3;Q02297-7;Q02297;Q02297-6;Q02297-3;Q02297-8;Q02297-9	.;.;.;.;.;.;.;NRG1_HUMAN;.;.;.;.	I	79;79;315;168;100;100;100;100;100;100;100;100;100	ENSP00000430053:N79I;ENSP00000429582:N79I;ENSP00000434640:N315I;ENSP00000429067:N168I;ENSP00000430120:N100I;ENSP00000343395:N100I;ENSP00000349275:N100I;ENSP00000287840:N100I;ENSP00000287845:N100I;ENSP00000340497:N100I;ENSP00000287842:N100I;ENSP00000384620:N100I;ENSP00000428828:N100I	ENSP00000287840:N100I	N	+	2	0	NRG1	32582642	0.865000	0.29922	0.036000	0.18154	0.060000	0.15804	0.052000	0.14163	-1.004000	0.03421	-1.162000	0.01777	AAC	NRG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000157168		0.378	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	-	0	75	0	A			32463100	1	tier1	-	no_errors	ENST00000338921	ensembl	human	known	74_37	missense	12.28	50	7	SNP	0.004	T	T	32463100	A	T	32463100	3	4	93	1	0	0	0	0	1	0	0	0	10686	43	2	5	1060	5	NRG1	8	32463100	Missense_Mutation	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	10503294	32463100	113900922	57	26847											
TRPA1	8989	genome.wustl.edu	37	chr8	72969981	72969981	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaaatttacaatattcCaagatgcagaagcagttgct	15	11	8	7	0	0	2	0	0	0	2	1	2	1	2	1	0	5	6	1	0	7	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr8:72969981C>T	ENST00000262209.4	-	9	1271	c.1064G>A	c.(1063-1065)tGg>tAg	p.W355*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	355					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TACAATATTCCAAGATGCAGA	0.383																																																	0													101	101	101					8																	72969981		2203	4300	6503	SO:0001587	stop_gained	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	497	protein-coding gene	gene with protein product		604775	"ankyrin-like with transmembrane domains 1"	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1064G>A	8.37:g.72969981C>T	ENSP00000262209:p.Trp355*		A6NIN6	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.W355*	ENST00000262209.4	37	c.1064	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.880885	0.97062	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-10.1354	19.4942	0.95065	0.0:1.0:0.0:0.0	.	.	.	.	X	207;355	.	ENSP00000262209:W355X	W	-	2	0	TRPA1	73132535	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.294000	0.72738	2.602000	0.87976	0.655000	0.94253	TGG	TRPA1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.383	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0	61	0	C	NM_007332		72969981	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	T	T	72969981	C	T	72969981	4	4	93	1	0	0	0	0	0	1	0	0	16625	595	21	3	2371	3	TRPA1	8	72969981	Nonsense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	40506881	72969981	73394041	58	26848											
DEPDC6	64798	genome.wustl.edu	37	chr8	120977623	120977623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagctttgccaccggCttatggagcatggcatcatc	9	9	11	12	1	1	1	1	0	0	1	2	2	1	2	2	3	4	5	2	3	1	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr8:120977623C>T	ENST00000286234.5	+	4	707	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F	DEPTOR_ENST00000523492.1_Missense_Mutation_p.L92F	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	193	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTGCCACCGGCTTATGGAGCA	0.532																																																	0													104	84	91					8																	120977623		2203	4300	6503	SO:0001583	missense	0				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"DEP domain containing 6"	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.577C>T	8.37:g.120977623C>T	ENSP00000286234:p.Leu193Phe		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ	p.L193F	ENST00000286234.5	37	c.577	CCDS6331.1	8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.097835	0.76870	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.47177	0.85;0.85	5.31	5.31	0.75309	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78173	-0.2307	10	0.72032	D	0.01	-18.0141	18.9927	0.92800	0.0:1.0:0.0:0.0	.	92;193	E7EV87;Q8TB45	.;DPTOR_HUMAN	F	92;193	ENSP00000430457:L92F;ENSP00000286234:L193F	ENSP00000286234:L193F	L	+	1	0	DEPTOR	121046804	1.000000	0.71417	0.991000	0.47740	0.459000	0.32528	4.358000	0.59442	2.487000	0.83934	0.655000	0.94253	CTT	DEPTOR	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000155792		0.532	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPTOR	HGNC	protein_coding	OTTHUMT00000381601.1		0	20	0	C	NM_022783		120977623	1			no_errors	ENST00000286234	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	T	T	120977623	C	T	120977623	3	4	93	1	0	0	0	0	1	0	0	0	4457	797	28	3	591	3	DEPDC6	8	120977623	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	48007642	120977623	25386399	59	26849											
TG	7038	genome.wustl.edu	37	chr8	133883696	133883696	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaggattcaggggactaCgcgcctgttcagtgtgatgt	7	12	14	8	2	3	1	3	1	0	0	3	3	3	3	1	3	1	1	1	3	1	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr8:133883696C>A	ENST00000220616.4	+	4	418	c.378C>A	c.(376-378)taC>taA	p.Y126*	TG_ENST00000377869.1_Nonsense_Mutation_p.Y126*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	126	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Y126Y(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGGGGACTACGCGCCTGTTC	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)											201	158	173					8																	133883696		2203	4300	6503	SO:0001587	stop_gained	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.378C>A	8.37:g.133883696C>A	ENSP00000220616:p.Tyr126*		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.Y126*	ENST00000220616.4	37	c.378	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400007	0.25291	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	.	.	.	5.58	-2.59	0.06209	.	0.117488	0.38272	N	0.001745	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8974	0.58108	0.0:0.414:0.0:0.586	.	.	.	.	X	126	.	ENSP00000220616:Y126X	Y	+	3	2	TG	133952878	0.002000	0.14202	0.002000	0.10522	0.053000	0.15095	-0.234000	0.09028	-0.418000	0.07450	0.460000	0.39030	TAC	TG	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	56	0	C	NM_003235		133883696	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.000	A	A	133883696	C	A	133883696	4	1	93	1	0	0	0	0	0	1	0	0	15860	547	19	2	392	2	TG	8	133883696	Nonsense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	12906073	133883696	12480326	60	26850											
DAPK1	1612	genome.wustl.edu	37	chr9	90321986	90321986	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgccttctcgccatgaacTtaggcctccctgacctcgtg	5	11	10	15	2	1	2	0	2	1	0	4	2	2	2	5	2	2	0	5	2	2	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr9:90321986T>G	ENST00000408954.3	+	26	4335	c.4000T>G	c.(4000-4002)Tta>Gta	p.L1334V	DAPK1_ENST00000358077.5_Missense_Mutation_p.L1334V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L1268V|DAPK1_ENST00000472284.1_Missense_Mutation_p.L1334V|DAPK1_ENST00000469640.2_Missense_Mutation_p.L1359V	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1334	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CGCCATGAACTTAGGCCTCCC	0.627									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													69	77	74					9																	90321986		2030	4165	6195	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4000T>G	9.37:g.90321986T>G	ENSP00000386135:p.Leu1334Val		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.L1359V	ENST00000408954.3	37	c.4075	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233366	0.58886	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	6.17	-1.95	0.07548	Death (3);DEATH-like (2);	0.000000	0.42053	D	0.000770	T	0.41903	0.1179	M	0.81614	2.55	0.58432	D	0.999995	B;B;B	0.25048	0.117;0.028;0.117	B;B;B	0.29524	0.103;0.036;0.103	T	0.39251	-0.9623	10	0.87932	D	0	.	9.1801	0.37136	0.0:0.4306:0.1046:0.4648	.	1268;1334;1334	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	V	1334;1334;1359;1334;1268	ENSP00000350785:L1334V;ENSP00000417076:L1334V;ENSP00000418885:L1359V;ENSP00000386135:L1334V;ENSP00000419026:L1268V	ENSP00000350785:L1334V	L	+	1	2	DAPK1	89511806	1.000000	0.71417	0.986000	0.45419	0.906000	0.53458	1.309000	0.33539	-0.256000	0.09473	-0.250000	0.11733	TTA	DAPK1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000196730		0.627	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	-	0	117	0	T	NM_004938		90321986	1	tier1	-	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.963	G	G	90321986	T	G	90321986	3	3	93	1	0	0	0	0	1	0	0	0	4244	1606	56	4	4098	4	DAPK1	9	90321986	Missense_Mutation	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09		90321986	50891445	61	26851											
AKAP2	11217	genome.wustl.edu	37	chr9	112900341	112900341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgaagcgactgtagaGgaagctgaagctgcggcttt	10	8	15	8	2	0	3	0	2	0	1	0	6	0	5	1	3	4	4	1	3	4	2	rs373159646|rs34665027|rs150402481	byFrequency	TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr9:112900341G>T	ENST00000259318.7	+	2	2031	c.1824G>T	c.(1822-1824)gaG>gaT	p.E608D	AKAP2_ENST00000510514.5_Missense_Mutation_p.E839D|AKAP2_ENST00000374525.1_Missense_Mutation_p.E697D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E839D|AKAP2_ENST00000434623.2_Missense_Mutation_p.E697D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E839D|AKAP2_ENST00000555236.1_Missense_Mutation_p.E839D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	608								p.E839_E840insEA(1)|p.E697_E698insEA(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGACTGTAGAGGAAGCTGAAG	0.507																																																	2	Insertion - In frame(2)	lung(2)											35	41	39					9																	112900341		2203	4300	6503	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1824G>T	9.37:g.112900341G>T	ENSP00000259318:p.Glu608Asp		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E839D	ENST00000259318.7	37	c.2517	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	8.566	0.878867	0.17395	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52526	2.01;2.0;2.01;2.0;1.25;0.67;0.66;1.59	5.74	2.71	0.32032	.	0.830795	0.11118	N	0.597729	T	0.41789	0.1174	L	0.54323	1.7	0.30106	N	0.806963	B;B;B;B;B;B;B;B	0.33549	0.189;0.288;0.293;0.417;0.293;0.008;0.008;0.332	B;B;B;B;B;B;B;B	0.32928	0.034;0.155;0.054;0.116;0.054;0.011;0.011;0.108	T	0.43327	-0.9398	10	0.51188	T	0.08	-17.9654	8.2558	0.31756	0.0741:0.0:0.6511:0.2747	.	608;697;691;697;698;839;839;657	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	839;839;839;839;697;697;657;608	ENSP00000363654:E839D;ENSP00000305861:E839D;ENSP00000451476:E839D;ENSP00000421522:E839D;ENSP00000404782:E697D;ENSP00000363649:E697D;ENSP00000419268:E657D;ENSP00000259318:E608D	ENSP00000259318:E608D	E	+	3	2	PALM2-AKAP2;AKAP2	111940162	0.983000	0.35010	0.941000	0.38009	0.190000	0.23558	1.200000	0.32247	0.860000	0.35481	0.650000	0.86243	GAG	PALM2-AKAP2	-	NULL	ENSG00000157654		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3		0	35	0	G	NM_001004065		112900341	1			no_errors	ENST00000374530	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.985	T	T	112900341	G	T	112900341	3	4	93	1	0	0	0	0	1	0	0	0	451	991	35	3	2097	3	AKAP2	9	112900341	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	22578355	112900341	28313090	62	26852											
OR1N2	138882	genome.wustl.edu	37	chr9	125315791	125315791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcgtattctgggtgtCttgcacagctatatttcctc	6	17	7	11	1	4	0	1	0	3	0	7	0	5	0	1	1	2	3	1	1	3	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr9:125315791C>A	ENST00000373688.2	+	1	401	c.343C>A	c.(343-345)Ctt>Att	p.L115I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTCTGGGTGTCTTGCACAGCT	0.493																																																	0													230	222	224					9																	125315791		2203	4300	6503	SO:0001583	missense	0				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"GPCR / Class A : Olfactory receptors"	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.343C>A	9.37:g.125315791C>A	ENSP00000362792:p.Leu115Ile		A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L115I	ENST00000373688.2	37	c.343	CCDS35123.1	9	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462115	0.26248	.	.	ENSG00000171501	ENST00000373688	T	0.00344	8.02	4.41	0.293	0.15742	GPCR, rhodopsin-like superfamily (1);	0.284658	0.09782	N	0.756534	T	0.00178	0.0005	L	0.43646	1.37	0.09310	N	1	P	0.36048	0.534	B	0.31751	0.135	T	0.05801	-1.0863	10	0.13470	T	0.59	.	3.3883	0.07280	0.328:0.3825:0.0:0.2894	.	115	Q8NGR9	OR1N2_HUMAN	I	115	ENSP00000362792:L115I	ENSP00000362792:L115I	L	+	1	0	OR1N2	124355612	0.000000	0.05858	0.748000	0.31131	0.973000	0.67179	-1.680000	0.01939	0.513000	0.28278	0.644000	0.83932	CTT	OR1N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000171501		0.493	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N2	HGNC	protein_coding	OTTHUMT00000053937.2		0	46	0	C			125315791	1			no_errors	ENST00000373688	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.038	A	A	125315791	C	A	125315791	3	1	93	1	0	0	0	0	1	0	0	0	11009	913	32	3	345	3	OR1N2	9	125315791	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	12415450	125315791	15897640	63	26853											
MTPAP	55149	genome.wustl.edu	37	chr10	30602572	30602572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taattgttctcttcccactgGtttttgtgaaattttctgtt	6	22	6	7	0	2	1	0	1	2	0	4	1	3	1	1	1	0	3	1	1	2	9			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr10:30602572G>T	ENST00000263063.4	-	9	1758	c.1715C>A	c.(1714-1716)aCc>aAc	p.T572N	MTPAP_ENST00000488290.1_5'UTR|MTPAP_ENST00000358107.4_Missense_Mutation_p.T702N	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	572					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTCCCACTGGTTTTTGTGAA	0.358																																																	0													159	158	159					10																	30602572		2203	4300	6503	SO:0001583	missense	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"TUTase1"	613669	"PAP associated domain containing 1"	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.1715C>A	10.37:g.30602572G>T	ENSP00000263063:p.Thr572Asn		D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	pfam_PAP_assoc	p.T702N	ENST00000263063.4	37	c.2105	CCDS7165.1	10	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307150	0.40795	.	.	ENSG00000107951	ENST00000358107;ENST00000263063	T;T	0.35048	2.04;1.33	5.64	3.63	0.41609	.	1.424900	0.03978	N	0.292785	T	0.53706	0.1813	M	0.72118	2.19	0.09310	N	1	D;D	0.63880	0.993;0.966	P;P	0.57776	0.827;0.543	T	0.18967	-1.0320	10	0.25106	T	0.35	-1.531	7.991	0.30239	0.0:0.167:0.532:0.301	.	702;572	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	N	702;572	ENSP00000350820:T702N;ENSP00000263063:T572N	ENSP00000263063:T572N	T	-	2	0	MTPAP	30642578	0.004000	0.15560	0.005000	0.12908	0.004000	0.04260	0.872000	0.28037	1.338000	0.45544	0.655000	0.94253	ACC	MTPAP	-	NULL	ENSG00000107951		0.358	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	HGNC	protein_coding	OTTHUMT00000047426.2		0	82	0	G	NM_018109		30602572	-1			no_errors	ENST00000358107	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.003	T	T	30602572	G	T	30602572	3	4	93	1	0	0	0	0	1	0	0	0	9994	1261	44	3	37	3	MTPAP	10	30602572	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09		30602572	104932175	64	26854											
C10orf128	170371	genome.wustl.edu	37	chr10	50375962	50375962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacgtaccaatttcaGccccaggggtcttgcctgtt	7	10	10	14	1	2	0	1	0	1	0	2	0	2	0	5	2	4	3	5	2	2	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr10:50375962G>T	ENST00000474718.1	-	2	111	c.89C>A	c.(88-90)gCt>gAt	p.A30D	C10orf128_ENST00000374151.3_Missense_Mutation_p.A30D|C10orf128_ENST00000374148.1_Missense_Mutation_p.A30D|C10orf128_ENST00000470884.1_5'UTR|C10orf128_ENST00000374153.2_Missense_Mutation_p.A30D	NM_001010863.1	NP_001010863.1	Q5T292	CJ128_HUMAN	chromosome 10 open reading frame 128	30						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)	3						ACCAATTTCAGCCCCAGGGGT	0.562																																																	0													120	125	124					10																	50375962		1965	4148	6113	SO:0001583	missense	0			BC031641	CCDS41519.1, CCDS73128.1	10q11.23	2012-06-13			ENSG00000204161	ENSG00000204161			27274	protein-coding gene	gene with protein product						12477932	Standard	NM_001010863		Approved	Em:AC084727.5	uc001jhn.4	Q5T292	OTTHUMG00000018188	ENST00000474718.1:c.89C>A	10.37:g.50375962G>T	ENSP00000417246:p.Ala30Asp		A6XND2|Q5T289|Q5T291	Missense_Mutation	SNP	NULL	p.A30D	ENST00000474718.1	37	c.89	CCDS41519.1	10	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344249	0.24339	.	.	ENSG00000204161	ENST00000374153;ENST00000474718;ENST00000453436;ENST00000374149;ENST00000374151;ENST00000374148	T;T;T;T;T	0.48201	0.84;0.89;0.83;0.82;0.83	4.59	2.52	0.30459	.	.	.	.	.	T	0.34193	0.0889	N	0.19112	0.55	0.09310	N	1	P;P;B;P	0.36837	0.571;0.571;0.343;0.571	B;B;B;B	0.42692	0.395;0.395;0.284;0.395	T	0.20638	-1.0269	9	0.52906	T	0.07	.	4.1721	0.10334	0.1227:0.0:0.6457:0.2316	.	30;30;30;30	Q5T292-2;Q5T292-3;Q5T292;Q5T292-4	.;.;CJ128_HUMAN;.	D	30;30;22;24;30;30	ENSP00000363268:A30D;ENSP00000417246:A30D;ENSP00000395067:A22D;ENSP00000363266:A30D;ENSP00000363263:A30D	ENSP00000363263:A30D	A	-	2	0	C10orf128	50045968	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	0.428000	0.21395	1.115000	0.41800	0.650000	0.86243	GCT	C10orf128	-	NULL	ENSG00000204161		0.562	C10orf128-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf128	HGNC	protein_coding	OTTHUMT00000047978.1	-	0	38	0	G	NM_001010863		50375962	-1	tier1	-	no_errors	ENST00000374151	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.002	T	T	50375962	G	T	50375962	3	4	93	1	0	0	0	0	1	0	0	0	1597	971	34	3	248	3	C10orf128	10	50375962	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	19773390	50375962	85158785	65	26855											
SORBS1	10580	genome.wustl.edu	37	chr10	97154774	97154774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaccttcggaagtttgctgGatttcaggaagttcagggaa	10	12	13	6	1	2	0	2	0	0	0	3	4	2	4	1	4	2	4	1	4	4	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr10:97154774G>T	ENST00000361941.3	-	12	1307	c.1281C>A	c.(1279-1281)atC>atA	p.I427I	SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000393949.1_Silent_p.I418I|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000347291.4_Silent_p.I295I|SORBS1_ENST00000277982.5_Silent_p.I427I|SORBS1_ENST00000371247.2_Silent_p.I427I|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000354106.3_Silent_p.I418I|SORBS1_ENST00000371246.2_Silent_p.I427I|SORBS1_ENST00000371227.4_Intron	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAGTTTGCTGGATTTCAGGAA	0.408																																																	0													253	302	286					10																	97154774		2203	4300	6503	SO:0001819	synonymous_variant	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"c-Cbl-associated protein"	605264	"SH3-domain protein 5 (ponsin)"	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1281C>A	10.37:g.97154774G>T				Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.I427	ENST00000361941.3	37	c.1281	CCDS31255.1	10																																																																																			SORBS1	-	pfscan_Sorb	ENSG00000095637		0.408	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-	0	117	0	G			97154774	-1	tier1	-	no_errors	ENST00000361941	ensembl	human	known	74_37	silent	5.19	73	4	SNP	1.000	T	T	97154774	G	T	97154774	2	4	93	1	0	0	0	0	0	0	0	1	14972	1164	41	3		3	SORBS1	10	97154774	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	46778812	97154774	38379973	66	26856											
DNMBP	23268	genome.wustl.edu	37	chr10	101715538	101715538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggctctgtgccgggccCtgccaagctcttctcaaact	6	11	9	15	1	4	0	1	0	4	0	5	0	4	0	3	2	4	2	3	2	2	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr10:101715538C>T	ENST00000324109.4	-	4	1784	c.1693G>A	c.(1693-1695)Ggg>Agg	p.G565R	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.G565R	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	565					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GTGCCGGGCCCTGCCAAGCTC	0.483																																																	0													70	72	71					10																	101715538		2203	4300	6503	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1693G>A	10.37:g.101715538C>T	ENSP00000315659:p.Gly565Arg		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.G565R	ENST00000324109.4	37	c.1693	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199842	0.38905	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.11277	2.85;2.79	5.24	3.37	0.38596	.	0.126803	0.36200	N	0.002727	T	0.09069	0.0224	L	0.50919	1.6	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.33803	-0.9854	10	0.12103	T	0.63	-15.0115	8.2952	0.31982	0.0:0.692:0.0:0.308	.	565	Q6XZF7	DNMBP_HUMAN	R	565	ENSP00000344914:G565R;ENSP00000315659:G565R	ENSP00000315659:G565R	G	-	1	0	DNMBP	101705528	0.000000	0.05858	0.996000	0.52242	0.865000	0.49528	0.276000	0.18716	1.446000	0.47643	0.561000	0.74099	GGG	DNMBP	-	NULL	ENSG00000107554		0.483	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	-	0	90	0	C	NM_015221		101715538	-1	tier1	-	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.022	T	T	101715538	C	T	101715538	3	4	93	1	0	0	0	0	1	0	0	0	4688	681	24	3	3096	3	DNMBP	10	101715538	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	4560764	101715538	33819209	67	26857											
ATRNL1	26033	genome.wustl.edu	37	chr10	117154258	117154258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataaaaggtgaccaatgcCaattgtaagtaagaatgact	18	9	9	5	0	0	3	0	2	0	1	0	4	0	3	2	1	1	2	2	1	8	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr10:117154258C>A	ENST00000355044.3	+	20	3391	c.3265C>A	c.(3265-3267)Caa>Aaa	p.Q1089K	ATRNL1_ENST00000423111.2_Missense_Mutation_p.Q140K|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1089	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGACCAATGCCAATTGTAAGT	0.333																																																	0													110	103	105					10																	117154258		2203	4299	6502	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3265C>A	10.37:g.117154258C>A	ENSP00000347152:p.Gln1089Lys		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.Q1089K	ENST00000355044.3	37	c.3265	CCDS7592.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.47|17.47	3.398071|3.398071	0.62177|0.62177	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000526373|ENST00000355044;ENST00000423111	.|T;T	.|0.54071	.|0.59;0.59	5.61|5.61	5.61|5.61	0.85477|0.85477	.|EGF-like, laminin (1);	.|0.110458	.|0.64402	.|D	.|0.000004	T|T	0.69949|0.69949	0.3168|0.3168	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.983;0.969	.|P;D	.|0.64877	.|0.622;0.93	T|T	0.72174|0.72174	-0.4370|-0.4370	5|10	.|0.66056	.|D	.|0.02	-14.7681|-14.7681	15.1377|15.1377	0.72583|0.72583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|140;1089	.|B4DH41;Q5VV63	.|.;ATRN1_HUMAN	Q|K	172|1089;140	.|ENSP00000347152:Q1089K;ENSP00000409624:Q140K	.|ENSP00000347152:Q1089K	P|Q	+|+	2|1	0|0	ATRNL1|ATRNL1	117144248|117144248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.790000|0.790000	0.44656|0.44656	6.050000|6.050000	0.71063|0.71063	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	CCA|CAA	ATRNL1	-	smart_EGF_laminin	ENSG00000107518		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3		0	62	0	C	XM_049349		117154258	1			no_errors	ENST00000355044	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	A	A	117154258	C	A	117154258	3	1	93	1	0	0	0	0	1	0	0	0	1208	595	21	3	3343	3	ATRNL1	10	117154258	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	15438720	117154258	18380489	68	26858											
PTPRE	5791	genome.wustl.edu	37	chr10	129875962	129875962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagatcgggattcccgccGagggcaaaggcatgattgac	10	7	14	10	3	0	3	0	3	0	1	2	6	1	4	2	3	0	2	2	3	1	2	rs376366402		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr10:129875962G>A	ENST00000254667.3	+	19	2086	c.1807G>A	c.(1807-1809)Gag>Aag	p.E603K	PTPRE_ENST00000419012.2_Missense_Mutation_p.E603K|PTPRE_ENST00000306042.5_Missense_Mutation_p.E545K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	603	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GATTCCCGCCGAGGGCAAAGG	0.662																																					Colon(52;977 1184 20575 41685)												0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	68	62	64		1807,1633	4.4	0.9	10		64	0,8600		0,0,4300	no	missense,missense	PTPRE	NM_006504.4,NM_130435.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	603/701,545/643	129875962	1,13005	2203	4300	6503	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1807G>A	10.37:g.129875962G>A	ENSP00000254667:p.Glu603Lys		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E603K	ENST00000254667.3	37	c.1807	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	G	32	5.184963	0.94885	2.27E-4	0.0	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.11169	2.8;2.8;2.8	4.44	4.44	0.53790	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.062614	0.64402	D	0.000007	T	0.15176	0.0366	L	0.37750	1.13	0.80722	D	1	D;P;P;P	0.59767	0.986;0.869;0.842;0.869	P;P;B;P	0.48571	0.555;0.582;0.371;0.582	T	0.01795	-1.1272	10	0.72032	D	0.01	.	17.2389	0.87007	0.0:0.0:1.0:0.0	.	581;603;545;603	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	K	603;581;603;545	ENSP00000254667:E603K;ENSP00000402337:E603K;ENSP00000303350:E545K	ENSP00000254667:E603K	E	+	1	0	PTPRE	129765952	1.000000	0.71417	0.937000	0.37676	0.817000	0.46193	9.654000	0.98509	2.315000	0.78130	0.561000	0.74099	GAG	PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.662	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	-	0	127	0	G			129875962	1	tier1	-	no_errors	ENST00000254667	ensembl	human	known	74_37	missense	9.64	72	8	SNP	1.000	A	A	129875962	G	A	129875962	3	1	93	1	0	0	0	0	1	0	0	0	12845	1059	37	1	1912	1	PTPRE	10	129875962	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	12721704	129875962	5658785	69	26859											
EBF3	253738	genome.wustl.edu	37	chr10	131757221	131757221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatgatctcgtgggtcagCagcacacggcacatctccgg	9	7	11	14	3	3	1	1	1	2	0	5	1	3	1	1	3	2	3	1	3	0	0			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr10:131757221C>T	ENST00000355311.5	-	5	534	c.462G>A	c.(460-462)ctG>ctA	p.L154L	EBF3_ENST00000368648.3_Silent_p.L154L			Q9H4W6	COE3_HUMAN	early B-cell factor 3	154					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CGTGGGTCAGCAGCACACGGC	0.711																																																	0													33	36	35					10																	131757221		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.462G>A	10.37:g.131757221C>T			A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.L154	ENST00000355311.5	37	c.462		10																																																																																			EBF3	-	NULL	ENSG00000108001		0.711	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2		0	133	0	C	NM_001005463		131757221	-1			no_errors	ENST00000355311	ensembl	human	known	74_37	silent	5.38	88	5	SNP	1.000	T	T	131757221	C	T	131757221	2	4	93	1	0	0	0	0	0	0	0	1	4896	697	25	3		3	EBF3	10	131757221	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	1881259	131757221	3777526	70	26860											
APBB1	322	genome.wustl.edu	37	chr11	6417032	6417032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatgcacgcagcctgcAcagcctctgagaggctggca	9	7	11	14	1	1	1	0	1	1	1	1	2	1	1	3	2	5	5	3	2	1	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr11:6417032A>G	ENST00000609360.1	-	14	2048	c.1949T>C	c.(1948-1950)gTg>gCg	p.V650A	APBB1_ENST00000608655.1_Missense_Mutation_p.V430A|APBB1_ENST00000609331.1_Missense_Mutation_p.V415A|APBB1_ENST00000529519.1_Missense_Mutation_p.V175A|APBB1_ENST00000299402.6_Missense_Mutation_p.V648A|APBB1_ENST00000389906.2_Missense_Mutation_p.V650A|APBB1_ENST00000608704.1_Missense_Mutation_p.V391A|APBB1_ENST00000608394.1_Missense_Mutation_p.V391A|APBB1_ENST00000608645.1_Missense_Mutation_p.V391A|APBB1_ENST00000311051.3_Missense_Mutation_p.V648A|APBB1_ENST00000530885.1_Missense_Mutation_p.V428A|APBB1_ENST00000526240.1_5'UTR	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	650	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CGCAGCCTGCACAGCCTCTGA	0.622																																					GBM(147;1810 2556 5672 39622)												0													59	60	60					11																	6417032		2201	4295	6496	SO:0001583	missense	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1949T>C	11.37:g.6417032A>G	ENSP00000477213:p.Val650Ala		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.V650A	ENST00000609360.1	37	c.1949		11	.	.	.	.	.	.	.	.	.	.	A	19.93	3.917810	0.73098	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.61	4.61	0.57282	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000003	T	0.56775	0.2008	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.998;0.998;1.0	T	0.61969	-0.6953	10	0.56958	D	0.05	-17.6375	11.9567	0.52984	1.0:0.0:0.0:0.0	.	650;428;648	O00213;B7Z2Y0;O00213-2	APBB1_HUMAN;.;.	A	648;648;650;499;391;415;428	ENSP00000299402:V648A;ENSP00000311912:V648A;ENSP00000374556:V650A;ENSP00000433338:V428A	ENSP00000299402:V648A	V	-	2	0	APBB1	6373608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.201000	0.95017	1.712000	0.51347	0.397000	0.26171	GTG	APBB1	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000166313		0.622	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	-	0	24	0	A	NM_001164		6417032	-1	tier1	-	no_errors	ENST00000389906	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	G	G	6417032	A	G	6417032	3	3	93	1	0	0	0	0	1	0	0	0	759	159	6	4	191	4	APBB1	11	6417032	Missense_Mutation	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09		6417032	128589484	71	26861											
DCHS1	8642	genome.wustl.edu	37	chr11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-																															gcacctggcaccccagccccCagcagcagcagcagcagcag																								rs370785084|rs372916982		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																																	1	Insertion - In frame(1)	prostate(1)								54,415,3471		8,0,38,73,269,1582						5.3	1		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"Cadherins / Cadherin-related"	13681	protein-coding gene	gene with protein product	"cadherin-related family member 6"	603057	"protocadherin 16", "dachsous 1 (Drosophila)"	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del		O15098	In_Frame_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L33in_frame_del	ENST00000299441.3	37	c.99_97	CCDS7771.1	11																																																																																			DCHS1	-	NULL	ENSG00000166341		0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1		0	54	0	CAG	NM_003737		6662748	-1	tier1		no_errors	ENST00000299441	ensembl	human	known	74_37	in_frame_del	11.76	45	6	DEL	1.000:1.000:1.000	-	-	6662748	CAG	-	6662746	7	5	93	1	0	1	0	1	0	0	0	0	4296	581	21	0	9877	0	DCHS1	11	6662746	In_Frame_Del	DEL	CAG	TCGA-L5-A8NU-01A-11D-A36J-09	245714	6662746	128343770	72	26862											
ZNF143	7702	genome.wustl.edu	37	chr11	9492878	9492878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttagcccaaataaatcGagattctcagggaatgacag	14	10	10	7	1	1	2	1	1	1	1	3	4	1	3	1	1	1	2	1	1	5	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr11:9492878G>T	ENST00000396602.2	+	2	142	c.23G>T	c.(22-24)cGa>cTa	p.R8L	ZNF143_ENST00000530463.1_Missense_Mutation_p.R8L|ZNF143_ENST00000396604.1_Missense_Mutation_p.R8L|ZNF143_ENST00000396597.3_Missense_Mutation_p.R8L|ZNF143_ENST00000299606.2_Missense_Mutation_p.R8L	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	8					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CAAATAAATCGAGATTCTCAG	0.423																																																	0													152	140	144					11																	9492878		2201	4294	6495	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"Zinc fingers, C2H2-type"	12928	protein-coding gene	gene with protein product		603433	"zinc finger protein 143 (clone pHZ-1)"				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.23G>T	11.37:g.9492878G>T	ENSP00000379847:p.Arg8Leu		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R8L	ENST00000396602.2	37	c.23	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	35	5.536379	0.96460	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370;ENST00000417726	T;T;T;T;T;T;T;T;T;T;T;T	0.54479	0.66;2.72;2.72;2.72;0.6;0.69;2.44;0.68;0.57;2.53;0.68;0.68	5.89	5.89	0.94794	.	0.000000	0.39544	U	0.001336	T	0.69797	0.3151	L	0.51422	1.61	0.80722	D	1	D;D;D	0.63046	0.992;0.987;0.987	D;D;D	0.72982	0.979;0.931;0.931	T	0.69639	-0.5091	10	0.72032	D	0.01	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	8;8;8	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	L	8	ENSP00000434638:R8L;ENSP00000379849:R8L;ENSP00000379847:R8L;ENSP00000432154:R8L;ENSP00000434922:R8L;ENSP00000433221:R8L;ENSP00000379843:R8L;ENSP00000409432:R8L;ENSP00000435881:R8L;ENSP00000299606:R8L;ENSP00000433743:R8L;ENSP00000388628:R8L	ENSP00000299606:R8L	R	+	2	0	ZNF143	9449454	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.435000	0.97529	2.783000	0.95769	0.655000	0.94253	CGA	ZNF143	-	NULL	ENSG00000166478		0.423	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2		0	51	0	G	NM_003442		9492878	1			no_errors	ENST00000396602	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	9492878	G	T	9492878	3	4	93	1	0	0	0	0	1	0	0	0	17780	1058	37	2	25	2	ZNF143	11	9492878	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	2830132	9492878	125513638	73	26863											
SLC22A25	387601	genome.wustl.edu	37	chr11	62996898	62996898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatttgagtcgaatgggatgGagattctcaggagggcatcc	10	10	15	6	1	1	2	1	1	1	1	4	7	2	4	1	4	0	1	1	4	1	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr11:62996898G>T	ENST00000306494.6	-	1	226	c.227C>A	c.(226-228)tCc>tAc	p.S76Y	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GAATGGGATGGAGATTCTCAG	0.512																																																	0													135	122	127					11																	62996898		2201	4298	6499	SO:0001583	missense	0			AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"Solute carriers"	32935	protein-coding gene	gene with protein product		610792	"MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.227C>A	11.37:g.62996898G>T	ENSP00000307443:p.Ser76Tyr			Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S76Y	ENST00000306494.6	37	c.227	CCDS31592.1	11	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324875	0.41197	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.37752	1.18	3.54	2.61	0.31194	Major facilitator superfamily domain (1);	0.200640	0.43260	D	0.000596	T	0.50000	0.1590	M	0.86740	2.835	0.80722	D	1	D;P	0.55800	0.973;0.939	P;P	0.51974	0.686;0.456	T	0.51849	-0.8653	10	0.56958	D	0.05	.	7.0866	0.25261	0.1343:0.0:0.8657:0.0	.	74;76	A4IF29;Q6T423	.;S22AP_HUMAN	Y	76	ENSP00000307443:S76Y	ENSP00000307443:S76Y	S	-	2	0	SLC22A25	62753474	1.000000	0.71417	0.999000	0.59377	0.514000	0.34195	0.895000	0.28363	0.607000	0.29982	0.289000	0.19496	TCC	SLC22A25	-	pfscan_MFS_dom	ENSG00000196600		0.512	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	HGNC	protein_coding	OTTHUMT00000383519.3		0	115	0	G	NM_199352		62996898	-1			no_errors	ENST00000306494	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.996	T	T	62996898	G	T	62996898	3	4	93	1	0	0	0	0	1	0	0	0	14499	1174	41	3	1452	3	SLC22A25	11	62996898	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	53504020	62996898	72009618	74	26864											
OR8D4	338662	genome.wustl.edu	37	chr11	123777178	123777178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgactgagtttcttCtttcaggattaactgaacaa	12	13	7	9	0	3	3	1	3	2	0	3	4	3	4	1	1	2	1	1	1	3	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr11:123777178C>A	ENST00000321355.2	+	1	70	c.40C>A	c.(40-42)Ctt>Att	p.L14I		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGAGTTTCTTCTTTCAGGATT	0.413																																																	0													86	82	83					11																	123777178		2202	4299	6501	SO:0001583	missense	0			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"GPCR / Class A : Olfactory receptors"	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.40C>A	11.37:g.123777178C>A	ENSP00000325381:p.Leu14Ile		Q6IFE9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L14I	ENST00000321355.2	37	c.40	CCDS31698.1	11	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122112	0.37436	.	.	ENSG00000181518	ENST00000321355	T	0.00561	6.59	5.44	3.52	0.40303	.	0.000000	0.40908	D	0.000985	T	0.00815	0.0027	M	0.80508	2.5	0.27885	N	0.939525	B	0.28900	0.227	B	0.33521	0.165	T	0.35325	-0.9793	10	0.66056	D	0.02	.	4.1919	0.10424	0.1659:0.5901:0.0:0.2441	.	14	Q8NGM9	OR8D4_HUMAN	I	14	ENSP00000325381:L14I	ENSP00000325381:L14I	L	+	1	0	OR8D4	123282388	0.011000	0.17503	0.039000	0.18376	0.919000	0.55068	0.149000	0.16243	0.606000	0.29965	0.561000	0.74099	CTT	OR8D4	-	NULL	ENSG00000181518		0.413	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	HGNC	protein_coding	OTTHUMT00000387262.1		0	59	0	C	NM_001005197		123777178	1			no_errors	ENST00000321355	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.818	A	A	123777178	C	A	123777178	3	1	93	1	0	0	0	0	1	0	0	0	11272	913	32	3	42	3	OR8D4	11	123777178	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	60780280	123777178	11229338	75	26865											
TBRG1	84897	genome.wustl.edu	37	chr11	124501301	124501301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgatgaagatcagaatgatCcccttctgccaggtatcttt	10	14	8	9	0	3	5	1	3	2	2	4	5	4	5	3	1	1	1	3	1	3	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr11:124501301C>T	ENST00000441174.3	+	8	1282	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	TBRG1_ENST00000438907.2_3'UTR|TBRG1_ENST00000375005.4_Missense_Mutation_p.P209S	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	360					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TCAGAATGATCCCCTTCTGCC	0.453																																																	0													181	187	185					11																	124501301		2201	4299	6500	SO:0001583	missense	0			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"nuclear interactor of ARF and MDM2"	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.1078C>T	11.37:g.124501301C>T	ENSP00000409016:p.Pro360Ser		Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Missense_Mutation	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.P360S	ENST00000441174.3	37	c.1078	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133808	0.21123	.	.	ENSG00000154144	ENST00000441174;ENST00000375005	T;T	0.79653	-1.29;-1.02	5.96	4.09	0.47781	.	0.299705	0.37809	N	0.001934	T	0.61085	0.2319	N	0.17082	0.46	0.26033	N	0.981717	B;B	0.13594	0.001;0.008	B;B	0.12837	0.001;0.008	T	0.43343	-0.9397	10	0.15499	T	0.54	-2.9666	5.4789	0.16713	0.1591:0.6738:0.0:0.1672	.	360;209	Q3YBR2;Q3YBR2-2	TBRG1_HUMAN;.	S	360;209	ENSP00000409016:P360S;ENSP00000364144:P209S	ENSP00000364144:P209S	P	+	1	0	TBRG1	124006511	0.989000	0.36119	0.991000	0.47740	0.600000	0.36913	0.825000	0.27393	0.845000	0.35118	-0.137000	0.14449	CCC	TBRG1	-	NULL	ENSG00000154144		0.453	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	-	0	63	0	C	NM_032811		124501301	1	tier1	-	no_errors	ENST00000441174	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T	T	124501301	C	T	124501301	3	4	93	1	0	0	0	0	1	0	0	0	15695	855	30	3	1108	3	TBRG1	11	124501301	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	724123	124501301	10505215	76	26866											
SYT10	341359	genome.wustl.edu	37	chr12	33560221	33560221	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgttgtaaaacaggttCtgtgcccatgctaaaatcaa	12	12	7	10	1	2	0	1	0	1	0	4	0	3	0	2	1	3	4	2	1	5	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr12:33560221C>A	ENST00000228567.3	-	3	876	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	SYT10_ENST00000535526.1_Nonsense_Mutation_p.E13*|SYT10_ENST00000567656.1_5'Flank|RP11-438D14.2_ENST00000561632.1_lincRNA	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	194					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.E194*(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAAACAGGTTCTGTGCCCATG	0.448																																																	2	Substitution - Nonsense(2)	large_intestine(1)|lung(1)											162	150	154					12																	33560221		2203	4300	6503	SO:0001587	stop_gained	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"Synaptotagmins"	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.580G>T	12.37:g.33560221C>A	ENSP00000228567:p.Glu194*		Q495U2	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.E194*	ENST00000228567.3	37	c.580	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.224620	0.97390	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	.	.	.	4.66	4.66	0.58398	.	0.162759	0.28425	U	0.015386	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	15.5979	0.76602	0.0:1.0:0.0:0.0	.	.	.	.	X	194;13	.	ENSP00000228567:E194X	E	-	1	0	SYT10	33451488	0.996000	0.38824	0.860000	0.33809	0.845000	0.48019	3.103000	0.50298	2.524000	0.85096	0.563000	0.77884	GAA	SYT10	-	NULL	ENSG00000110975		0.448	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1		0	58	0	C	NM_198992		33560221	-1			no_errors	ENST00000228567	ensembl	human	known	74_37	nonsense	6.90	27	2	SNP	0.996	A	A	33560221	C	A	33560221	4	1	93	1	0	0	0	0	0	1	0	0	15513	922	32	3	1011	3	SYT10	12	33560221	Nonsense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		33560221	100291674	77	26867											
LRP1	4035	genome.wustl.edu	37	chr12	57556223	57556223	+	Frame_Shift_Del	DEL	C	C	-																															aacggggtgtaggaggcgcaCcccccactgtgacccttctg																								rs34108076		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr12:57556223delC	ENST00000243077.3	+	14	2792	c.2326delC	c.(2326-2328)cccfs	p.P777fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	777					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGAGGCGCACCCCCCACTGT	0.607																																																	0													150	122	132					12																	57556223		2203	4300	6503	SO:0001589	frameshift_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2326delC	12.37:g.57556223delC	ENSP00000243077:p.Pro777fs		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.T778fs	ENST00000243077.3	37	c.2326	CCDS8932.1	12																																																																																			LRP1	-	NULL	ENSG00000123384		0.607	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2		0	47	0	C	NM_002332		57556223	1	tier1		no_errors	ENST00000243077	ensembl	human	known	74_37	frame_shift_del	9.68	28	3	DEL	0.102	-	-	57556223	C	-	57556223	7	5	93	1	0	1	0	1	0	0	0	0	8986	507	18	0	2380	0	LRP1	12	57556223	Frame_Shift_Del	DEL	C	TCGA-L5-A8NU-01A-11D-A36J-09	23996002	57556223	76295672	78	26868											
TRHDE	29953	genome.wustl.edu	37	chr12	73012754	73012754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttcttccttggcatgctgCcagccgagctctttatcctc	4	16	7	14	1	2	0	0	0	2	0	5	1	4	0	4	1	4	3	4	1	1	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr12:73012754C>T	ENST00000261180.4	+	13	2366	c.2270C>T	c.(2269-2271)gCc>gTc	p.A757V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	757					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGCATGCTGCCAGCCGAGCT	0.358																																																	0													52	57	55					12																	73012754		2201	4300	6501	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2270C>T	12.37:g.73012754C>T	ENSP00000261180:p.Ala757Val		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A757V	ENST00000261180.4	37	c.2270	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.246806	0.95305	.	.	ENSG00000072657	ENST00000261180	T	0.05580	3.42	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.22166	0.0534	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.00036	-1.2255	10	0.35671	T	0.21	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	757	Q9UKU6	TRHDE_HUMAN	V	757	ENSP00000261180:A757V	ENSP00000261180:A757V	A	+	2	0	TRHDE	71299021	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.160000	0.77495	2.885000	0.99019	0.655000	0.94253	GCC	TRHDE	-	NULL	ENSG00000072657		0.358	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0	72	0	C	NM_013381		73012754	1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	T	T	73012754	C	T	73012754	3	4	93	1	0	0	0	0	1	0	0	0	16527	739	26	3	2320	3	TRHDE	12	73012754	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	15456531	73012754	60839141	79	26869											
NUP37	79023	genome.wustl.edu	37	chr12	102471230	102471230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagataaaatagcctgttGggccaaaagatcataaaacc	19	7	8	7	0	1	2	1	0	0	2	1	3	1	2	3	1	2	1	3	1	8	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr12:102471230G>T	ENST00000552283.1	-	7	731	c.592C>A	c.(592-594)Caa>Aaa	p.Q198K	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000543021.1_5'Flank|NUP37_ENST00000251074.1_Missense_Mutation_p.Q198K			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	198					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.Q198K(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						ATAGCCTGTTGGGCCAAAAGA	0.378																																																	1	Substitution - Missense(1)	lung(1)											135	141	139					12																	102471230		2203	4300	6503	SO:0001583	missense	0			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"WD repeat domain containing"	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.592C>A	12.37:g.102471230G>T	ENSP00000448054:p.Gln198Lys		Q9H644	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q198K	ENST00000552283.1	37	c.592	CCDS9089.1	12	.	.	.	.	.	.	.	.	.	.	G	13.05	2.121417	0.37436	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	T;T	0.27557	1.66;1.66	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.194501	0.56097	D	0.000029	T	0.27765	0.0683	L	0.28274	0.84	0.80722	D	1	B	0.17038	0.02	B	0.16722	0.016	T	0.02464	-1.1155	10	0.38643	T	0.18	-5.7104	20.5407	0.99260	0.0:0.0:1.0:0.0	.	198	Q8NFH4	NUP37_HUMAN	K	198	ENSP00000448054:Q198K;ENSP00000251074:Q198K	ENSP00000251074:Q198K	Q	-	1	0	NUP37	100995360	1.000000	0.71417	0.945000	0.38365	0.972000	0.66771	9.147000	0.94646	2.865000	0.98341	0.655000	0.94253	CAA	NUP37	-	superfamily_WD40_repeat_dom	ENSG00000075188		0.378	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP37	HGNC	protein_coding	OTTHUMT00000409330.1		0	48	0	G	NM_024057		102471230	-1			no_errors	ENST00000251074	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	102471230	G	T	102471230	3	4	93	1	0	0	0	0	1	0	0	0	10803	1357	47	3	404	3	NUP37	12	102471230	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	29458476	102471230	31380665	80	26870											
TCP11L2	255394	genome.wustl.edu	37	chr12	106729445	106729445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcagactacagaatggatAaaagaatctgtaaatgaaga	20	8	9	4	0	2	5	1	1	1	4	2	7	2	6	0	1	1	1	0	1	8	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr12:106729445A>G	ENST00000299045.3	+	7	975	c.801A>G	c.(799-801)atA>atG	p.I267M		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	267										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CAGAATGGATAAAAGAATCTG	0.423																																																	0													60	64	63					12																	106729445		2203	4300	6503	SO:0001583	missense	0			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"t-complex 11 (mouse) like 2", "t-complex 11 (mouse)-like 2"				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.801A>G	12.37:g.106729445A>G	ENSP00000299045:p.Ile267Met		B2RA65|G3V1Y9	Missense_Mutation	SNP	pfam_Tcp11	p.I267M	ENST00000299045.3	37	c.801	CCDS9104.1	12	.	.	.	.	.	.	.	.	.	.	A	18.10	3.547586	0.65311	.	.	ENSG00000166046	ENST00000299045	T	0.12147	2.71	6.03	2.18	0.27775	.	0.080690	0.85682	D	0.000000	T	0.20536	0.0494	L	0.50333	1.59	0.80722	D	1	D	0.53885	0.963	P	0.58266	0.836	T	0.01899	-1.1251	10	0.54805	T	0.06	0.0322	4.2701	0.10782	0.6225:0.1991:0.0648:0.1136	.	267	Q8N4U5	T11L2_HUMAN	M	267	ENSP00000299045:I267M	ENSP00000299045:I267M	I	+	3	3	TCP11L2	105253575	0.998000	0.40836	0.989000	0.46669	0.997000	0.91878	0.522000	0.22909	0.120000	0.18254	0.533000	0.62120	ATA	TCP11L2	-	pfam_Tcp11	ENSG00000166046		0.423	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L2	HGNC	protein_coding	OTTHUMT00000407206.1	-	0	60	0	A	NM_152772		106729445	1	tier1	-	no_errors	ENST00000299045	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	G	G	106729445	A	G	106729445	3	3	93	1	0	0	0	0	1	0	0	0	15762	352	13	4	823	4	TCP11L2	12	106729445	Missense_Mutation	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	4258215	106729445	27122450	81	26871											
GPR133	283383	genome.wustl.edu	37	chr12	131439027	131439027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccatggaaaagctgctgcGgctgtgctgctggtactcct	7	10	13	11	1	0	0	0	0	0	0	1	1	1	1	2	3	7	6	2	3	3	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr12:131439027G>A	ENST00000261654.5	+	1	576	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	GPR133_ENST00000535015.1_Missense_Mutation_p.R6Q	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	6					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGCTGCTGCGGCTGTGCTGC	0.537																																																	0													67	66	67					12																	131439027		2203	4300	6503	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.17G>A	12.37:g.131439027G>A	ENSP00000261654:p.Arg6Gln		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R6Q	ENST00000261654.5	37	c.17	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815531	0.32145	.	.	ENSG00000111452	ENST00000261654;ENST00000543826;ENST00000542091;ENST00000535015	T;T	0.40225	1.06;1.04	4.41	-1.34	0.09143	.	1.932270	0.02920	N	0.137890	T	0.24160	0.0585	N	0.22421	0.69	0.09310	N	1	B;B	0.31459	0.324;0.058	B;B	0.16289	0.015;0.015	T	0.11421	-1.0588	10	0.48119	T	0.1	.	2.618	0.04908	0.1362:0.2617:0.4212:0.181	.	6;6	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Q	6	ENSP00000261654:R6Q;ENSP00000444425:R6Q	ENSP00000261654:R6Q	R	+	2	0	GPR133	130004980	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.397000	0.20883	-0.260000	0.09418	-0.304000	0.09214	CGG	GPR133	-	NULL	ENSG00000111452		0.537	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	-	0	88	0	G	NM_198827		131439027	1	tier1	-	no_errors	ENST00000261654	ensembl	human	known	74_37	missense	14.29	54	9	SNP	0.000	A	A	131439027	G	A	131439027	3	1	93	1	0	0	0	0	1	0	0	0	6669	1116	39	1	19	1	GPR133	12	131439027	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	24709582	131439027	2412868	82	26872											
ATP12A	479	genome.wustl.edu	37	chr13	25280563	25280563	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcccggacatcccccCagcagaagctgatcattgtg	8	10	9	14	1	2	2	1	1	1	1	3	3	3	3	4	1	3	2	4	1	1	2	rs61998252	byFrequency	TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr13:25280563C>T	ENST00000381946.3	+	15	2298	c.2131C>T	c.(2131-2133)Cag>Tag	p.Q711*	RNY1P7_ENST00000384743.1_RNA|ATP12A_ENST00000218548.6_Nonsense_Mutation_p.Q717*			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	711					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GACATCCCCCCAGCAGAAGCT	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)												0													103	80	88					13																	25280563		2203	4300	6503	SO:0001587	stop_gained	0			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"ATPases / P-type"	13816	protein-coding gene	gene with protein product	"ATPase, Na+K+ transporting, alpha-1 polypeptide-like", "potassium-transporting ATPase alpha chain 2", "proton pump", "non-gastric H(+)/K(+) ATPase alpha subunit", "sodium/potassium ATPase, alpha polypeptide-like"	182360	"ATPase, Na+/K+ transporting, alpha polypeptide-like 1"	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2131C>T	13.37:g.25280563C>T	ENSP00000371372:p.Gln711*		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.Q717*	ENST00000381946.3	37	c.2149	CCDS31948.1	13	.	.	.	.	.	.	.	.	.	.	C	43	9.912529	0.99294	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	.	.	.	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5173	0.87777	0.0:1.0:0.0:0.0	.	.	.	.	X	717;711	.	ENSP00000218548:Q717X	Q	+	1	0	ATP12A	24178563	1.000000	0.71417	0.985000	0.45067	0.876000	0.50452	7.726000	0.84824	2.727000	0.93392	0.563000	0.77884	CAG	ATP12A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000075673		0.567	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP12A	HGNC	protein_coding	OTTHUMT00000044199.1	-	0	59	0	C	NM_001676		25280563	1	tier1	-	no_errors	ENST00000218548	ensembl	human	known	74_37	nonsense	38.46	16	10	SNP	1.000	T	T	25280563	C	T	25280563	4	4	93	1	0	0	0	0	0	1	0	0	1123	595	21	3	2207	3	ATP12A	13	25280563	Nonsense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		25280563	89889315	83	26873											
RFC3	5983	genome.wustl.edu	37	chr13	34410304	34410304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggggaggtggcacaaatgGcagcttactatgagcatcgt	12	8	14	7	1	0	1	0	1	0	0	1	2	0	2	0	5	3	4	0	5	4	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr13:34410304G>A	ENST00000380071.3	+	9	1073	c.943G>A	c.(943-945)Gca>Aca	p.A315T	RFC3_ENST00000434425.1_Intron	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	315					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		GGCACAAATGGCAGCTTACTA	0.388																																																	0													150	136	141					13																	34410304		2203	4300	6503	SO:0001583	missense	0				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.943G>A	13.37:g.34410304G>A	ENSP00000369411:p.Ala315Thr		C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase	p.A315T	ENST00000380071.3	37	c.943	CCDS9352.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.557847	0.96514	.	.	ENSG00000133119	ENST00000380071	T	0.52754	0.65	5.67	5.67	0.87782	DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);DNA polymerase III, clamp-loader complex, subunit E, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75258	0.3825	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78745	-0.2084	10	0.66056	D	0.02	-20.405	19.1047	0.93290	0.0:0.0:1.0:0.0	.	315	P40938	RFC3_HUMAN	T	315	ENSP00000369411:A315T	ENSP00000369411:A315T	A	+	1	0	RFC3	33308304	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.405000	0.97313	2.819000	0.97034	0.655000	0.94253	GCA	RFC3	-	superfamily_DNA_pol3_clamp-load_cplx_C	ENSG00000133119		0.388	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	HGNC	protein_coding	OTTHUMT00000044450.2	-	0	109	0	G	NM_002915		34410304	1	tier1	-	no_errors	ENST00000380071	ensembl	human	known	74_37	missense	5.48	68	4	SNP	1.000	A	A	34410304	G	A	34410304	3	1	93	1	0	0	0	0	1	0	0	0	13291	1203	42	3	977	3	RFC3	13	34410304	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	9129741	34410304	80759574	84	26874											
NBEA	26960	genome.wustl.edu	37	chr13	35751218	35751218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatatcaatcgccttcGtgctgttgtctttcgggatg	5	17	11	8	3	2	1	1	1	1	0	5	2	2	2	1	1	1	3	1	1	2	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr13:35751218G>A	ENST00000400445.3	+	28	5174	c.4640G>A	c.(4639-4641)cGt>cAt	p.R1547H	NBEA_ENST00000379939.2_Missense_Mutation_p.R1544H|NBEA_ENST00000310336.4_Missense_Mutation_p.R1547H|NBEA_ENST00000540320.1_Missense_Mutation_p.R1547H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1547					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATCGCCTTCGTGCTGTTGTC	0.373																																																	0													165	142	149					13																	35751218		1873	4106	5979	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4640G>A	13.37:g.35751218G>A	ENSP00000383295:p.Arg1547His		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.R1547H	ENST00000400445.3	37	c.4640	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	32	5.138745	0.94560	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.63417	-0.03;-0.04;-0.03;-0.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.69479	0.869;0.964	T	0.79480	-0.1786	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1547;1544	Q8NFP9;Q5T321	NBEA_HUMAN;.	H	1547;1547;1544;1547;206	ENSP00000440951:R1547H;ENSP00000383295:R1547H;ENSP00000369271:R1544H;ENSP00000308534:R1547H	ENSP00000308534:R1547H	R	+	2	0	NBEA	34649218	1.000000	0.71417	0.967000	0.41034	0.563000	0.35712	9.718000	0.98758	2.941000	0.99782	0.655000	0.94253	CGT	NBEA	-	NULL	ENSG00000172915		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	112	0	G	NM_015678		35751218	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	14.29	66	11	SNP	1.000	A	A	35751218	G	A	35751218	3	1	93	1	0	0	0	0	1	0	0	0	10225	1145	40	1	4750	1	NBEA	13	35751218	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	1340914	35751218	79418660	85	26875											
SLITRK1	114798	genome.wustl.edu	37	chr13	84455509	84455509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcagacttgtgaagcccTttttttcacagtctacgtgt	7	15	9	10	1	2	2	1	1	1	1	2	2	2	2	1	0	3	2	1	0	2	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr13:84455509T>C	ENST00000377084.2	-	1	1019	c.134A>G	c.(133-135)aAg>aGg	p.K45R		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	45	LRRNT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.K45fs*64(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTGAAGCCCTTTTTTTCACA	0.463																																																	1	Deletion - Frameshift(1)	large_intestine(1)											90	89	89					13																	84455509		2203	4300	6503	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.134A>G	13.37:g.84455509T>C	ENSP00000366288:p.Lys45Arg		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.K45R	ENST00000377084.2	37	c.134	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	T	3.734	-0.054985	0.07362	.	.	ENSG00000178235	ENST00000377084	T	0.51817	0.69	4.59	4.59	0.56863	.	0.103397	0.64402	D	0.000003	T	0.26810	0.0656	N	0.10809	0.05	0.41694	D	0.989363	B	0.09022	0.002	B	0.16722	0.016	T	0.09997	-1.0649	10	0.09338	T	0.73	-14.5951	13.2304	0.59941	0.0:0.0:0.0:1.0	.	45	Q96PX8	SLIK1_HUMAN	R	45	ENSP00000366288:K45R	ENSP00000366288:K45R	K	-	2	0	SLITRK1	83353510	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.889000	0.48601	2.050000	0.60909	0.459000	0.35465	AAG	SLITRK1	-	NULL	ENSG00000178235		0.463	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1		0	47	0	T	NM_052910		84455509	-1			no_errors	ENST00000377084	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	C	C	84455509	T	C	84455509	3	2	93	1	0	0	0	0	1	0	0	0	14787	1609	56	4	1960	4	SLITRK1	13	84455509	Missense_Mutation	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09	48704291	84455509	30714369	86	26876											
PABPN1	8106	genome.wustl.edu	37	chr14	23792218	23792218	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatagctggcccggtGatcatgtccattgaggagaa	9	11	12	9	1	1	4	1	3	0	1	3	5	3	4	3	3	1	1	3	3	2	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr14:23792218G>T	ENST00000216727.4	+	3	658	c.477G>T	c.(475-477)gtG>gtT	p.V159V	PABPN1_ENST00000557702.1_Silent_p.V31V|PABPN1_ENST00000397276.2_Silent_p.V159V|AL049829.1_ENST00000594872.1_5'Flank|BCL2L2-PABPN1_ENST00000553781.1_Silent_p.V186V|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.V186V|PABPN1_ENST00000556821.1_Silent_p.V31V	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	159	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCCCGGTGATCATGTCCA	0.463																																																	0													139	145	143					14																	23792218		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"RNA binding motif (RRM) containing"	8565	protein-coding gene	gene with protein product		602279	"poly(A)-binding protein, nuclear 1"	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.477G>T	14.37:g.23792218G>T			D3DS49|O43484	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V159	ENST00000216727.4	37	c.477	CCDS9592.1	14																																																																																			PABPN1	-	NULL	ENSG00000100836		0.463	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PABPN1	HGNC	protein_coding	OTTHUMT00000071767.4	-	0	87	0	G	NM_004643		23792218	1	tier1	-	no_errors	ENST00000216727	ensembl	human	known	74_37	silent	5.13	74	4	SNP	1.000	T	T	23792218	G	T	23792218	2	4	93	1	0	0	0	0	0	0	0	1	11407	1277	45	3		3	PABPN1	14	23792218	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09		23792218	83557322	87	26877											
SRP54	6729	genome.wustl.edu	37	chr14	35468837	35468837	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatattaaactagtgaagcAactaagagaaaatgttaagt	20	11	7	3	0	0	2	0	1	0	1	0	3	0	2	0	0	3	2	0	0	11	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr14:35468837A>T	ENST00000556994.1	+	4	549	c.152A>T	c.(151-153)cAa>cTa	p.Q51L	SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000555557.1_Intron|SRP54_ENST00000546080.1_Intron|SRP54_ENST00000216774.6_Missense_Mutation_p.Q51L			P61011	SRP54_HUMAN	signal recognition particle 54kDa	51	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		CTAGTGAAGCAACTAAGAGAA	0.323																																																	0													108	112	111					14																	35468837		2203	4299	6502	SO:0001583	missense	0			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.152A>T	14.37:g.35468837A>T	ENSP00000451818:p.Gln51Leu		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	p.Q51L	ENST00000556994.1	37	c.152	CCDS9652.1	14	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453895	0.63290	.	.	ENSG00000100883	ENST00000556994;ENST00000555746;ENST00000216774	.	.	.	5.64	5.64	0.86602	Signal recognition particle, SRP54 subunit, helical bundle (4);	0.000000	0.85682	D	0.000000	T	0.73613	0.3609	M	0.90309	3.105	0.80722	D	1	B	0.29085	0.232	B	0.26094	0.066	T	0.76310	-0.3006	9	0.72032	D	0.01	-11.417	15.862	0.79032	1.0:0.0:0.0:0.0	.	51	P61011	SRP54_HUMAN	L	51	.	ENSP00000216774:Q51L	Q	+	2	0	SRP54	34538588	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.109000	0.77062	2.145000	0.66743	0.460000	0.39030	CAA	SRP54	-	pfam_Signal_recog_particl_SRP54_hlx,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,tigrfam_SRP54_euk	ENSG00000100883		0.323	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP54	HGNC	protein_coding	OTTHUMT00000276643.2	-	0	67	0	A	NM_003136		35468837	1	tier1	-	no_errors	ENST00000216774	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T	T	35468837	A	T	35468837	3	4	93	1	0	0	0	0	1	0	0	0	15202	130	5	5	158	5	SRP54	14	35468837	Missense_Mutation	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	11676619	35468837	71880703	88	26878											
NIN	51199	genome.wustl.edu	37	chr14	51239789	51239789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtaccgtcaggatcaaGattatggaatacttcctcga	12	12	8	9	2	2	1	2	0	0	1	4	4	3	3	2	2	2	1	2	2	5	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr14:51239789G>T	ENST00000382041.3	-	8	881	c.691C>A	c.(691-693)Ctt>Att	p.L231I	NIN_ENST00000245441.5_Missense_Mutation_p.L231I|NIN_ENST00000389868.3_Missense_Mutation_p.L231I|NIN_ENST00000530997.2_Missense_Mutation_p.L231I|NIN_ENST00000324330.9_Missense_Mutation_p.L231I|NIN_ENST00000382043.4_Missense_Mutation_p.L231I|NIN_ENST00000453196.1_Missense_Mutation_p.L231I	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	231	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGGATCAAGATTATGGAAT	0.358			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													96	94	94					14																	51239789		2203	4300	6503	SO:0001583	missense	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.691C>A	14.37:g.51239789G>T	ENSP00000371472:p.Leu231Ile		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_hand_dom	p.L231I	ENST00000382041.3	37	c.691	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500455	0.85176	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	D;T;D;T;D;D;T	0.95588	-3.75;-0.49;-3.75;1.37;-3.75;-3.75;2.9	4.88	4.88	0.63580	EF-hand-like domain (1);	0.130542	0.53938	D	0.000054	D	0.95749	0.8617	L	0.27053	0.805	0.48185	D	0.999602	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.998	D;D;D;D;D	0.91635	0.999;0.998;0.997;0.935;0.99	D	0.95894	0.8909	10	0.45353	T	0.12	-6.2678	17.3719	0.87381	0.0:0.0:1.0:0.0	.	237;231;231;231;231	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	I	231;231;231;231;237;231;231;231;193	ENSP00000245441:L231I;ENSP00000374518:L231I;ENSP00000371474:L231I;ENSP00000371472:L231I;ENSP00000324210:L231I;ENSP00000412391:L231I;ENSP00000398641:L193I	ENSP00000245441:L231I	L	-	1	0	NIN	50309539	1.000000	0.71417	0.984000	0.44739	0.901000	0.52897	7.920000	0.87521	2.403000	0.81681	0.467000	0.42956	CTT	NIN	-	NULL	ENSG00000100503		0.358	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2		0	49	0	G	NM_182946		51239789	-1			no_errors	ENST00000245441	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	51239789	G	T	51239789	3	4	93	1	0	0	0	0	1	0	0	0	10456	942	33	3	5954	3	NIN	14	51239789	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	15770952	51239789	56109751	89	26879											
BTBD7	55727	genome.wustl.edu	37	chr14	93723588	93723588	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtaagatgtgttcaattcGcacaaaaggtaagagagaag	17	8	12	4	1	1	3	1	0	0	3	2	4	1	3	0	2	0	4	0	2	6	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr14:93723588G>A	ENST00000334746.5	-	6	1868	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BTBD7_ENST00000393170.2_Nonsense_Mutation_p.R95*|BTBD7_ENST00000554565.1_Nonsense_Mutation_p.R170*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	521					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTTCAATTCGCACAAAAGGT	0.408																																																	0													166	156	159					14																	93723588		2203	4300	6503	SO:0001587	stop_gained	0			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"BTB/POZ domain containing"	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1561C>T	14.37:g.93723588G>A	ENSP00000335615:p.Arg521*		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Nonsense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.R521*	ENST00000334746.5	37	c.1561	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	G	34	5.397032	0.96009	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	.	.	.	5.64	3.76	0.43208	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1131	0.72375	0.0:0.0:0.7415:0.2585	.	.	.	.	X	521;170;136;95	.	ENSP00000335615:R521X	R	-	1	2	BTBD7	92793341	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.893000	0.56243	0.800000	0.34041	0.650000	0.86243	CGA	BTBD7	-	smart_BACK	ENSG00000011114		0.408	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	-	0	100	0	G	NM_001002860		93723588	-1	tier1	-	no_errors	ENST00000334746	ensembl	human	known	74_37	nonsense	7.02	53	4	SNP	1.000	A	A	93723588	G	A	93723588	4	1	93	1	0	0	0	0	0	1	0	0	1550	1095	38	1	1861	1	BTBD7	14	93723588	Nonsense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	42483799	93723588	13625952	90	26880											
HERC2	8924	genome.wustl.edu	37	chr15	28421704	28421704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttcacttccgccccggcCcagttttccaaagtcaccat	7	10	6	18	2	2	0	2	0	0	0	4	0	4	0	7	1	0	1	7	1	1	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr15:28421704C>T	ENST00000261609.7	-	63	9664	c.9556G>A	c.(9556-9558)Ggc>Agc	p.G3186S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCGCCCCGGCCCAGTTTTCCA	0.498																																																	0													79	88	85					15																	28421704		2203	4300	6503	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.9556G>A	15.37:g.28421704C>T	ENSP00000261609:p.Gly3186Ser			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.G3186S	ENST00000261609.7	37	c.9556	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.503699	0.96371	.	.	ENSG00000128731	ENST00000261609	D	0.98732	-5.1	5.65	5.65	0.86999	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97415	1.0005	10	0.87932	D	0	.	19.7107	0.96095	0.0:1.0:0.0:0.0	.	3186	O95714	HERC2_HUMAN	S	3186	ENSP00000261609:G3186S	ENSP00000261609:G3186S	G	-	1	0	HERC2	26095299	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.659000	0.90383	0.585000	0.79938	GGC	HERC2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000128731		0.498	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0	259	0	C	NM_004667		28421704	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	16.06	183	35	SNP	1.000	T	T	28421704	C	T	28421704	3	4	93	1	0	0	0	0	1	0	0	0	7085	623	22	3	5072	3	HERC2	15	28421704	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		28421704	74109688	91	26881											
SLC12A1	6557	genome.wustl.edu	37	chr15	48522690	48522690	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtagctggaatggaatGggaggcaaaggtaaatttct	13	11	13	4	0	2	0	1	0	1	0	2	3	2	3	0	5	1	4	0	5	6	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr15:48522690G>A	ENST00000558405.1	+	6	979	c.965G>A	c.(964-966)tGg>tAg	p.W322*	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.W322*|SLC12A1_ENST00000396577.3_Nonsense_Mutation_p.W322*|SLC12A1_ENST00000330289.6_Nonsense_Mutation_p.W322*			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	322					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGAATGGAATGGGAGGCAAAG	0.423																																																	0													68	61	63					15																	48522690		2198	4297	6495	SO:0001587	stop_gained	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.965G>A	15.37:g.48522690G>A	ENSP00000453409:p.Trp322*		A8JYA2|E9PDW4	Nonsense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.W322*	ENST00000558405.1	37	c.965	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	37	6.382268	0.97520	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000330289	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3096	0.94182	0.0:0.0:1.0:0.0	.	.	.	.	X	135;322;322;322	.	ENSP00000331550:W322X	W	+	2	0	SLC12A1	46309982	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.548000	0.85928	0.650000	0.86243	TGG	SLC12A1	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000074803		0.423	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	HGNC	protein_coding	OTTHUMT00000417131.1		0	51	0	G			48522690	1			no_errors	ENST00000380993	ensembl	human	known	74_37	nonsense	9.68	28	3	SNP	1.000	A	A	48522690	G	A	48522690	4	1	93	1	0	0	0	0	0	1	0	0	14427	1357	47	3	1087	3	SLC12A1	15	48522690	Nonsense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	20100986	48522690	54008702	92	26882											
CHD2	1106	genome.wustl.edu	37	chr15	93524607	93524607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttaggaaatggatataGatgaaattttgcggttggct	11	16	11	3	1	1	2	0	1	1	1	1	4	1	4	0	4	1	2	0	4	5	7			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr15:93524607G>T	ENST00000394196.4	+	24	4054	c.2986G>T	c.(2986-2988)Gat>Tat	p.D996Y	CHD2_ENST00000557381.1_Missense_Mutation_p.D996Y	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	996	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AATGGATATAGATGAAATTTT	0.358																																																	0													127	123	125					15																	93524607		2197	4298	6495	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2986G>T	15.37:g.93524607G>T	ENSP00000377747:p.Asp996Tyr		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D996Y	ENST00000394196.4	37	c.2986	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532331	0.85812	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.02606	4.23;4.23	4.78	4.78	0.61160	.	0.000000	0.35179	U	0.003389	T	0.24392	0.0591	H	0.94385	3.53	0.80722	D	1	P;D	0.89917	0.932;1.0	P;D	0.80764	0.707;0.994	T	0.35475	-0.9787	10	0.87932	D	0	-27.622	18.1898	0.89804	0.0:0.0:1.0:0.0	.	996;996	O14647;O14647-2	CHD2_HUMAN;.	Y	996	ENSP00000377747:D996Y;ENSP00000451366:D996Y	ENSP00000377747:D996Y	D	+	1	0	CHD2	91325611	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.929000	0.92859	2.360000	0.80028	0.591000	0.81541	GAT	CHD2	-	NULL	ENSG00000173575		0.358	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0	80	0	G	NM_001271		93524607	1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	6.78	55	4	SNP	1.000	T	T	93524607	G	T	93524607	3	4	93	1	0	0	0	0	1	0	0	0	3332	942	33	3	3080	3	CHD2	15	93524607	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	45001917	93524607	9006785	93	26883											
LRRC28	123355	genome.wustl.edu	37	chr15	99796292	99796292	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgagggactgcagtacttgGagagactctatatgaaaagg	14	9	13	5	0	1	3	0	2	1	1	1	6	1	5	0	3	2	2	0	3	5	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr15:99796292G>T	ENST00000301981.3	+	2	370	c.130G>T	c.(130-132)Gag>Tag	p.E44*	LRRC28_ENST00000559399.1_3'UTR|LRRC28_ENST00000558879.1_Nonsense_Mutation_p.E44*|LRRC28_ENST00000442993.2_Nonsense_Mutation_p.E44*|LRRC28_ENST00000422500.2_Nonsense_Mutation_p.E44*|AC022819.1_ENST00000581052.1_RNA|LRRC28_ENST00000447360.2_Nonsense_Mutation_p.E44*|LRRC28_ENST00000331450.5_Nonsense_Mutation_p.E44*	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	44										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GCAGTACTTGGAGAGACTCTA	0.363																																																	0													75	75	75					15																	99796292		2197	4297	6494	SO:0001587	stop_gained	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.130G>T	15.37:g.99796292G>T	ENSP00000304923:p.Glu44*		A8KA22|Q6UY49|Q6ZSS6	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E44*	ENST00000301981.3	37	c.130	CCDS10380.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.193137	0.94960	.	.	ENSG00000168904	ENST00000301981;ENST00000447360;ENST00000422500;ENST00000442993;ENST00000331450	.	.	.	5.63	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	13.3077	0.60362	0.0752:0.0:0.9248:0.0	.	.	.	.	X	44	.	ENSP00000304923:E44X	E	+	1	0	LRRC28	97613815	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.343000	0.79319	1.380000	0.46344	0.650000	0.86243	GAG	LRRC28	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000168904		0.363	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC28	HGNC	protein_coding	OTTHUMT00000313546.1	-	0	79	0	G	NM_144598		99796292	1	tier1	-	no_errors	ENST00000301981	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	99796292	G	T	99796292	4	4	93	1	0	0	0	0	0	1	0	0	9017	1175	41	3	132	3	LRRC28	15	99796292	Nonsense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	6271685	99796292	2735100	94	26884											
ITGAX	3687	genome.wustl.edu	37	chr16	31368637	31368637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaccggactctgcttcCtcctgggccccacccagctc	5	8	7	21	1	2	0	1	0	1	0	5	1	4	1	7	2	2	2	7	2	0	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr16:31368637C>T	ENST00000268296.4	+	5	503	c.382C>T	c.(382-384)Ctc>Ttc	p.L128F	ITGAX_ENST00000562918.1_Intron|ITGAX_ENST00000562522.1_Missense_Mutation_p.L128F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	128					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACTCTGCTTCCTCCTGGGCCC	0.682																																																	0													25	21	23					16																	31368637		2196	4300	6496	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.382C>T	16.37:g.31368637C>T	ENSP00000268296:p.Leu128Phe		Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.L128F	ENST00000268296.4	37	c.382	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012622	0.75161	.	.	ENSG00000140678	ENST00000268296	T	0.79033	-1.23	4.99	2.97	0.34412	.	.	.	.	.	D	0.85504	0.5712	M	0.83603	2.65	0.26566	N	0.973643	D	0.69078	0.997	P	0.61070	0.883	T	0.75172	-0.3411	9	0.59425	D	0.04	.	9.6941	0.40147	0.1547:0.6945:0.1508:0.0	.	128	P20702	ITAX_HUMAN	F	128	ENSP00000268296:L128F	ENSP00000268296:L128F	L	+	1	0	ITGAX	31276138	0.516000	0.26218	0.947000	0.38551	0.069000	0.16628	0.498000	0.22530	2.601000	0.87937	0.585000	0.79938	CTC	ITGAX	-	NULL	ENSG00000140678		0.682	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	-	0	82	0	C	NM_000887		31368637	1	tier1	-	no_errors	ENST00000268296	ensembl	human	known	74_37	missense	17.02	39	8	SNP	0.848	T	T	31368637	C	T	31368637	3	4	93	1	0	0	0	0	1	0	0	0	7916	681	24	3	400	3	ITGAX	16	31368637	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		31368637	58986116	95	26885											
JPH3	57338	genome.wustl.edu	37	chr16	87723837	87723838	+	Frame_Shift_Ins	INS	-	-	C																															ttgctgaggatggagacgcaINStccccagaaaagacgctaca																								rs34767155	byFrequency	TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr16:87723837_87723838insC	ENST00000284262.2	+	4	2113_2114	c.1871_1872insC	c.(1870-1875)catcccfs	p.P625fs	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	625					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATGGAGACGCATCCCCAGAAAA	0.658																																																	0																																										SO:0001589	frameshift_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"trinucleotide repeat containing 22"	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	Exception_encountered	16.37:g.87723837_87723838insC	ENSP00000284262:p.Pro625fs		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Frame_Shift_Ins	INS	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.P625fs	ENST00000284262.2	37	c.1871_1872	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.658	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2		0	96	0	0			87723838	1			no_errors	ENST00000284262	ensembl	human	known	74_37	frame_shift_ins	6.25	60	4	INS	1.000:1.000	C	C	87723838	-	C	87723837	7	5	93	1	0	1	1	0	0	0	0	0	7989	217	8	0	1885	0	JPH3	16	87723837	Frame_Shift_Ins	INS	-	TCGA-L5-A8NU-01A-11D-A36J-09	56355200	87723837	2630916	96	26886											
GHDC	84514	genome.wustl.edu	37	chr17	40342279	40342279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtagtggggagcagagcccGcagaggaatctgtgaataga	12	6	16	7	2	1	4	0	1	1	3	1	6	1	6	1	3	2	3	1	3	4	2	rs138138681	byFrequency	TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr17:40342279G>T	ENST00000301671.8	-	8	1739	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	GHDC_ENST00000414034.3_Silent_p.R463R|GHDC_ENST00000428494.2_Missense_Mutation_p.A394E|GHDC_ENST00000587427.1_Missense_Mutation_p.A433E|GHDC_ENST00000436923.2_Silent_p.R463R|GHDC_ENST00000593209.1_Missense_Mutation_p.A433E|GHDC_ENST00000590520.1_5'Flank			Q8N2G8	GHDC_HUMAN	GH3 domain containing	433						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AGCAGAGCCCGCAGAGGAATC	0.547																																																	0													105	97	100					17																	40342279		2203	4300	6503	SO:0001583	missense	0			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1298C>A	17.37:g.40342279G>T	ENSP00000301671:p.Ala433Glu		B4DQS4|E9PDB5|Q9BXM6	Missense_Mutation	SNP	pfam_GH3	p.A433E	ENST00000301671.8	37	c.1298	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.318127	0.00235	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000301671	.	.	.	4.6	-0.384	0.12474	.	0.428709	0.24708	N	0.036254	T	0.11324	0.0276	.	.	.	0.18873	N	0.999987	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20240	-1.0281	8	0.06757	T	0.87	-1.1605	1.6576	0.02785	0.1517:0.369:0.163:0.3163	.	394;433	E9PDB5;Q8N2G8	.;GHDC_HUMAN	E	377;394;433	.	ENSP00000301671:A433E	A	-	2	0	GHDC	37595805	0.005000	0.15991	0.029000	0.17559	0.030000	0.12068	1.254000	0.32897	-0.274000	0.09232	-1.334000	0.01262	GCG	GHDC	-	pfam_GH3	ENSG00000167925		0.547	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1		0	49	0	G	NM_032484		40342279	-1			no_errors	ENST00000301671	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.120	T	T	40342279	G	T	40342279	3	4	93	1	0	0	0	0	1	0	0	0	6395	1087	38	2	302	2	GHDC	17	40342279	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09		40342279	40852931	97	26887											
WNT9B	7484	genome.wustl.edu	37	chr17	44952592	44952592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccggggctggagagcCggcaggcctggcagtggggc	5	5	19	12	2	1	1	0	0	1	1	2	2	1	1	3	8	1	3	3	8	0	0			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr17:44952592C>T	ENST00000290015.2	+	3	513	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	WNT9B_ENST00000393461.2_Missense_Mutation_p.R154W	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	154					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTGGAGAGCCGGCAGGCCTG	0.662																																																	0													58	61	60					17																	44952592		2203	4300	6503	SO:0001583	missense	0			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"Wingless-type MMTV integration sites"	12779	protein-coding gene	gene with protein product		602864	"wingless-type MMTV integration site family, member 15"	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.460C>T	17.37:g.44952592C>T	ENSP00000290015:p.Arg154Trp		Q6UXT4|Q96Q09	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.R154W	ENST00000290015.2	37	c.460	CCDS11506.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707667	0.89018	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.76709	-1.04;-1.04	4.61	3.63	0.41609	.	0.058491	0.64402	D	0.000001	D	0.88672	0.6500	M	0.87097	2.86	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.983	D	0.90582	0.4530	10	0.66056	D	0.02	.	14.3984	0.67027	0.1489:0.8511:0.0:0.0	.	154;154	E7EPC3;O14905	.;WNT9B_HUMAN	W	148;154;154	ENSP00000377105:R154W;ENSP00000290015:R154W	ENSP00000290015:R154W	R	+	1	2	WNT9B	42307591	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.904000	0.56325	1.262000	0.44165	0.462000	0.41574	CGG	WNT9B	-	pfam_Wnt,smart_Wnt	ENSG00000158955		0.662	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9B	HGNC	protein_coding	OTTHUMT00000440433.1	-	0	71	0	C	NM_003396		44952592	1	tier1	-	no_errors	ENST00000290015	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	T	T	44952592	C	T	44952592	3	4	93	1	0	0	0	0	1	0	0	0	17448	643	23	1	470	1	WNT9B	17	44952592	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	4610313	44952592	36242618	98	26888											
SDK2	54549	genome.wustl.edu	37	chr17	71415408	71415408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctggcgatgacgttctGtggaggggccgtggggggct	4	8	20	9	4	1	1	0	1	1	0	1	3	1	2	2	7	0	3	2	7	0	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr17:71415408G>T	ENST00000392650.3	-	16	2083	c.2083C>A	c.(2083-2085)Cag>Aag	p.Q695K	SDK2_ENST00000388726.3_Missense_Mutation_p.Q695K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	695	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGACGTTCTGTGGAGGGGCC	0.557																																																	0													55	50	52					17																	71415408		2203	4300	6503	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2083C>A	17.37:g.71415408G>T	ENSP00000376421:p.Gln695Lys		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.Q695K	ENST00000392650.3	37	c.2083	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767225	0.49574	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.57273	0.41;0.41	4.87	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.49372	0.1553	L	0.59967	1.855	0.80722	D	1	B;B	0.20368	0.036;0.044	B;B	0.28011	0.051;0.085	T	0.49390	-0.8945	10	0.05620	T	0.96	.	18.0116	0.89225	0.0:0.0:1.0:0.0	.	695;695	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	K	319;695;695;695	ENSP00000376421:Q695K;ENSP00000373378:Q695K	ENSP00000324967:Q695K	Q	-	1	0	SDK2	68927003	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	5.258000	0.65479	2.266000	0.75297	0.462000	0.41574	CAG	SDK2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000069188		0.557	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2		0	88	0	G	NM_019064		71415408	-1			no_errors	ENST00000392650	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	71415408	G	T	71415408	3	4	93	1	0	0	0	0	1	0	0	0	14014	1386	48	3	4555	3	SDK2	17	71415408	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	26462816	71415408	9779802	99	26889											
SGSH	6448	genome.wustl.edu	37	chr17	78188874	78188874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcagcggcaggctccGcaccttgtcgaaggagttga	9	6	15	11	3	0	1	0	1	0	0	2	4	1	2	2	3	3	6	2	3	1	2	rs375755239		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr17:78188874G>A	ENST00000326317.6	-	3	399	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	SGSH_ENST00000570923.1_Silent_p.C116C|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000534910.1_Intron	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	105					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GGCAGGCTCCGCACCTTGTCG	0.667																																																	0									TRP/ARG	0,4400		0,0,2200	60	52	55		313	3.7	1	17		55	2,8598	2.2+/-6.3	0,2,4298	no	missense	SGSH	NM_000199.3	101	0,2,6498	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	105/503	78188874	2,12998	2200	4300	6500	SO:0001583	missense	0			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"sulfamidase", "mucopolysaccharidosis type IIIA"	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.313C>T	17.37:g.78188874G>A	ENSP00000314606:p.Arg105Trp		A8K5E2	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R105W	ENST00000326317.6	37	c.313	CCDS11770.1	17	.	.	.	.	.	.	.	.	.	.	g	24.8	4.569887	0.86542	0.0	2.33E-4	ENSG00000181523	ENST00000326317	D	0.98633	-5.04	3.65	3.65	0.41850	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.413104	0.24271	N	0.039988	D	0.98626	0.9540	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.71870	0.846;0.975	D	0.98842	1.0755	10	0.87932	D	0	.	10.8727	0.46894	0.0:0.0:0.8115:0.1885	.	105;108	P51688;Q59EB1	SPHM_HUMAN;.	W	105	ENSP00000314606:R105W	ENSP00000314606:R105W	R	-	1	2	SGSH	75803469	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.319000	0.59197	1.865000	0.54081	0.558000	0.71614	CGG	SGSH	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000181523		0.667	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSH	HGNC	protein_coding	OTTHUMT00000437695.1	-	0	137	0	G	NM_000199		78188874	-1	tier1	-	no_errors	ENST00000326317	ensembl	human	known	74_37	missense	12.99	67	10	SNP	1.000	A	A	78188874	G	A	78188874	3	1	93	1	0	0	0	0	1	0	0	0	14266	1086	38	1	1219	1	SGSH	17	78188874	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	6773466	78188874	3006336	100	26890											
BAHCC1	57597	genome.wustl.edu	37	chr17	79411578	79411578	+	Frame_Shift_Del	DEL	G	G	-																															cgcagcccctccctgtggatGggggggcactcctacggtca																								rs555714796	byFrequency	TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr17:79411578delG	ENST00000307745.7	+	11	2496	c.2496delG	c.(2494-2496)atgfs	p.M832fs																								CCCTGTGGATGGGGGGGCACT	0.716																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000307745.7:c.2496delG	17.37:g.79411578delG	ENSP00000303486:p.Met832fs			Frame_Shift_Del	DEL	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.H835fs	ENST00000307745.7	37	c.2496		17																																																																																			RP11-1055B8.7	-	NULL	ENSG00000171282		0.716	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding			0	21	0	G			79411578	1			no_errors	ENST00000307745	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	0	-	79411578	G	-	79411578	7	5	93	1	0	1	0	1	0	0	0	0	1297	1348	47	0	2353	0	BAHCC1	17	79411578	Frame_Shift_Del	DEL	G	TCGA-L5-A8NU-01A-11D-A36J-09	1222704	79411578	1783632	101	26891											
COLEC12	81035	genome.wustl.edu	37	chr18	346460	346460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaacggatgttggccagggTattattcaaggaggtcagat	12	10	13	6	1	2	1	2	0	0	1	2	3	2	3	1	5	1	2	1	5	4	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr18:346460T>C	ENST00000400256.3	-	5	1369	c.1162A>G	c.(1162-1164)Acc>Gcc	p.T388A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	388					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGGCCAGGGTATTATTCAAG	0.458																																																	0													200	169	179					18																	346460		2203	4300	6503	SO:0001583	missense	0			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"Collectins"	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1162A>G	18.37:g.346460T>C	ENSP00000383115:p.Thr388Ala		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.T388A	ENST00000400256.3	37	c.1162	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666650	0.29604	.	.	ENSG00000158270	ENST00000400256	T	0.78364	-1.17	5.76	4.53	0.55603	.	0.138605	0.64402	D	0.000004	T	0.58722	0.2142	N	0.14661	0.345	0.40179	D	0.977266	B	0.23591	0.088	B	0.17979	0.02	T	0.56306	-0.8001	10	0.23302	T	0.38	-13.4809	9.976	0.41783	0.2613:0.0:0.0:0.7387	.	388	Q5KU26	COL12_HUMAN	A	388	ENSP00000383115:T388A	ENSP00000383115:T388A	T	-	1	0	COLEC12	336460	1.000000	0.71417	0.886000	0.34754	0.515000	0.34225	3.738000	0.55067	2.197000	0.70478	0.533000	0.62120	ACC	COLEC12	-	NULL	ENSG00000158270		0.458	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1		0	149	0	T			346460	-1			no_errors	ENST00000400256	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	C	C	346460	T	C	346460	3	2	93	1	0	0	0	0	1	0	0	0	3719	1638	57	4	1090	4	COLEC12	18	346460	Missense_Mutation	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09		346460	77730788	102	26892											
KIAA0802	23255	genome.wustl.edu	37	chr18	8819009	8819009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggcagtttcctctgtgatCaaaaagacggcaacgttcgc	10	10	11	10	3	2	2	1	1	1	1	4	2	3	2	1	2	1	4	1	2	3	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr18:8819009C>G	ENST00000306329.11	+	11	3865	c.3865C>G	c.(3865-3867)Caa>Gaa	p.Q1289E	SOGA2_ENST00000517570.1_Missense_Mutation_p.Q929E|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000359865.3_Missense_Mutation_p.Q970E|SOGA2_ENST00000400050.3_Missense_Mutation_p.Q929E																							CCTCTGTGATCAAAAAGACGG	0.507																																																	0													71	81	78					18																	8819009		2203	4300	6503	SO:0001583	missense	0																														ENST00000306329.11:c.3865C>G	18.37:g.8819009C>G	ENSP00000305027:p.Gln1289Glu			Missense_Mutation	SNP	pfam_SOGA	p.Q970E	ENST00000306329.11	37	c.2908		18	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319650	0.23994	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.42131	0.98;0.98;0.98	5.96	5.08	0.68730	.	0.817365	0.10679	N	0.646594	T	0.39009	0.1062	L	0.54323	1.7	0.31070	N	0.713125	B	0.30634	0.288	B	0.30401	0.115	T	0.29088	-1.0023	10	0.15499	T	0.54	-0.6732	12.628	0.56640	0.0:0.8698:0.0:0.1302	.	970	Q9Y4B5-3	.	E	991;929;970;929	ENSP00000429556:Q929E;ENSP00000352927:Q970E;ENSP00000382924:Q929E	ENSP00000305027:Q991E	Q	+	1	0	CCDC165	8809009	0.571000	0.26659	0.171000	0.22900	0.294000	0.27393	2.270000	0.43355	2.813000	0.96785	0.655000	0.94253	CAA	SOGA2	-	NULL	ENSG00000168502		0.507	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0	55	0	C			8819009	1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	16.39	51	10	SNP	0.060	G	G	8819009	C	G	8819009	3	3	93	1	0	0	0	0	1	0	0	0	8221	827	29	5	2950	5	KIAA0802	18	8819009	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	8472549	8819009	69258239	103	26893											
DSG1	1828	genome.wustl.edu	37	chr18	28916468	28916468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaggcccagtgtttcGtccaggttcaaagacatatg	12	11	10	8	1	1	2	1	1	0	1	3	2	2	2	2	2	0	2	2	2	4	4	rs557916314		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr18:28916468G>A	ENST00000257192.4	+	9	1369	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCAGTGTTTCGTCCAGGTTCA	0.373													G|||	1	0.000199681	8e-04	0	5008	,	,		15573	0		0	False		,,,				2504	0																0													94	85	88					18																	28916468		2203	4300	6503	SO:0001583	missense	0			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"Cadherins / Major cadherins"	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1157G>A	18.37:g.28916468G>A	ENSP00000257192:p.Arg386His		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin	p.R386H	ENST00000257192.4	37	c.1157	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	G	7.373	0.627161	0.14257	.	.	ENSG00000134760	ENST00000257192	T	0.60920	0.15	5.57	4.68	0.58851	Cadherin (2);Cadherin-like (1);	0.503060	0.18178	N	0.149226	T	0.44787	0.1310	L	0.46947	1.48	0.80722	D	1	B	0.22800	0.075	B	0.14578	0.011	T	0.40627	-0.9553	10	0.30078	T	0.28	.	5.5407	0.17036	0.1412:0.2634:0.5954:0.0	.	386	Q02413	DSG1_HUMAN	H	386	ENSP00000257192:R386H	ENSP00000257192:R386H	R	+	2	0	DSG1	27170466	0.868000	0.29978	1.000000	0.80357	0.337000	0.28794	1.854000	0.39368	2.609000	0.88269	0.563000	0.77884	CGT	DSG1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000134760		0.373	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	-	0	87	0	G	NM_001942		28916468	1	tier1	-	no_errors	ENST00000257192	ensembl	human	known	74_37	missense	8.45	65	6	SNP	0.924	A	A	28916468	G	A	28916468	3	1	93	1	0	0	0	0	1	0	0	0	4790	1145	40	1	1191	1	DSG1	18	28916468	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	20097459	28916468	49160780	104	26894											
DSG3	1830	genome.wustl.edu	37	chr18	29056028	29056028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaactatttagtaacggaGacttactcggcttctggttc	9	14	10	8	2	1	1	0	0	1	1	3	2	1	1	0	4	3	4	0	4	5	8			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr18:29056028G>T	ENST00000257189.4	+	16	2888	c.2805G>T	c.(2803-2805)gaG>gaT	p.E935D		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	935					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGTAACGGAGACTTACTCGG	0.507																																																	0													162	146	152					18																	29056028		2203	4300	6503	SO:0001583	missense	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"Cadherins / Major cadherins"	3050	protein-coding gene	gene with protein product	"pemphigus vulgaris antigen"	169615	"desmoglein 3 (pemphigus vulgaris antigen)"			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2805G>T	18.37:g.29056028G>T	ENSP00000257189:p.Glu935Asp		A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.E935D	ENST00000257189.4	37	c.2805	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212734	0.39102	.	.	ENSG00000134757	ENST00000257189	D	0.81739	-1.53	5.54	-2.5	0.06384	.	0.121454	0.35903	N	0.002905	D	0.86146	0.5863	M	0.80332	2.49	0.30957	N	0.724114	D	0.89917	1.0	D	0.91635	0.999	T	0.82561	-0.0396	10	0.72032	D	0.01	.	7.6313	0.28240	0.565:0.0:0.3198:0.1152	.	935	P32926	DSG3_HUMAN	D	935	ENSP00000257189:E935D	ENSP00000257189:E935D	E	+	3	2	DSG3	27310026	0.788000	0.28762	0.070000	0.20053	0.026000	0.11368	-0.114000	0.10757	-0.777000	0.04572	-0.345000	0.07892	GAG	DSG3	-	NULL	ENSG00000134757		0.507	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1		0	33	0	G	NM_001944		29056028	1			no_errors	ENST00000257189	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.862	T	T	29056028	G	T	29056028	3	4	93	1	0	0	0	0	1	0	0	0	4792	933	33	3	2867	3	DSG3	18	29056028	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	139560	29056028	49021220	105	26895											
SMAD4	4089	genome.wustl.edu	37	chr18	48573628	48573628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcatcctagtaaatGtgttaccatacagagaacat	14	11	8	8	0	1	1	1	0	0	1	2	3	2	2	2	1	4	3	2	1	6	4			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr18:48573628G>A	ENST00000342988.3	+	2	750	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.C71Y|SMAD4_ENST00000398417.2_Missense_Mutation_p.C71Y|SMAD4_ENST00000588745.1_Missense_Mutation_p.C71Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	71	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CCTAGTAAATGTGTTACCATA	0.353																																																	41	Whole gene deletion(36)|Unknown(5)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)											119	130	126					18																	48573628		2203	4300	6503	SO:0001583	missense	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"SMADs"	6770	protein-coding gene	gene with protein product		600993	"MAD, mothers against decapentaplegic homolog 4 (Drosophila)", "SMAD, mothers against DPP homolog 4 (Drosophila)"	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.212G>A	18.37:g.48573628G>A	ENSP00000341551:p.Cys71Tyr		A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.C71Y	ENST00000342988.3	37	c.212	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441503	0.83993	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	D;D;D	0.89552	-2.53;-2.53;-2.53	5.64	5.64	0.86602	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.96281	0.8787	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97079	0.9783	10	0.87932	D	0	.	18.4607	0.90737	0.0:0.0:1.0:0.0	.	71	Q13485	SMAD4_HUMAN	Y	71	ENSP00000409551:C71Y;ENSP00000341551:C71Y;ENSP00000381452:C71Y	ENSP00000341551:C71Y	C	+	2	0	SMAD4	46827626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.657000	0.90304	0.655000	0.94253	TGT	SMAD4	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000141646		0.353	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0	44	0	G	NM_005359		48573628	1			no_errors	ENST00000342988	ensembl	human	known	74_37	missense	6.67	27	2	SNP	1.000	A	A	48573628	G	A	48573628	3	1	93	1	0	0	0	0	1	0	0	0	14805	1377	48	3	214	3	SMAD4	18	48573628	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	19517600	48573628	29503620	106	26896											
MC4R	4160	genome.wustl.edu	37	chr18	58038662	58038662	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaggttttcctcagttcTtgactccggagtgcataaat	9	15	9	8	1	2	2	1	2	1	0	4	3	4	3	2	2	1	3	2	2	3	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr18:58038662T>C	ENST00000299766.3	-	1	1339	c.921A>G	c.(919-921)caA>caG	p.Q307Q		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	307					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCCTCAGTTCTTGACTCCGGA	0.413																																																	0													127	120	123					18																	58038662		2203	4300	6503	SO:0001819	synonymous_variant	0			AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"GPCR / Class A : Melanocortin receptors"	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.921A>G	18.37:g.58038662T>C			B2RAC3|Q16317|Q3MIJ6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt	p.Q307	ENST00000299766.3	37	c.921	CCDS11976.1	18																																																																																			MC4R	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt	ENSG00000166603		0.413	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC4R	HGNC	protein_coding	OTTHUMT00000256139.1	-	0	34	0	T	NM_005912		58038662	-1	tier1	-	no_errors	ENST00000299766	ensembl	human	known	74_37	silent	21.43	22	6	SNP	1.000	C	C	58038662	T	C	58038662	2	2	93	1	0	0	0	0	0	0	0	1	9404	1606	56	4		4	MC4R	18	58038662	Silent	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09	9465034	58038662	20038586	107	26897											
MUC16	94025	genome.wustl.edu	37	chr19	9015384	9015384	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttcttgaacatgggaccaAgctgtggaggagggagagag	11	8	17	5	0	1	2	0	1	1	1	1	7	1	6	1	4	2	2	1	4	2	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:9015384A>C	ENST00000397910.4	-	30	38407	c.38204T>G	c.(38203-38205)cTt>cGt	p.L12735R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12737	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			G -> S (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATGGGACCAAGCTGTGGAGG	0.562																																																	0													152	131	138					19																	9015384		2037	4194	6231	SO:0001630	splice_region_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38203-1T>G	19.37:g.9015384A>C			Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.L12735R	ENST00000397910.4	37	c.38204	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	.	12.14	1.848387	0.32699	.	.	ENSG00000181143	ENST00000397910	T	0.67698	-0.28	2.82	2.82	0.32997	.	.	.	.	.	T	0.81427	0.4820	M	0.89287	3.02	.	.	.	D	0.76494	0.999	D	0.87578	0.998	D	0.85082	0.0946	8	0.87932	D	0	.	7.3598	0.26739	1.0:0.0:0.0:0.0	.	12735	B5ME49	.	R	12735	ENSP00000381008:L12735R	ENSP00000381008:L12735R	L	-	2	0	MUC16	8876384	0.765000	0.28485	0.576000	0.28549	0.017000	0.09413	4.383000	0.59600	1.274000	0.44362	0.254000	0.18369	CTT	MUC16	-	pfam_SEA_dom	ENSG00000181143		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	121	0	A	NM_024690	Missense_Mutation	9015384	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	16.67	85	17	SNP	0.723	C	C	9015384	A	C	9015384	5	2	93	1	0	0	0	0	0	0	1	0	10011	86	3	4	5539	4	MUC16	19	9015384	Splice_Site	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09		9015384	50113599	108	26898											
OR7D4	125958	genome.wustl.edu	37	chr19	9324972	9324972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgaggacctgagccGgttcacagaagaaatgcgga	12	6	12	11	2	1	4	1	2	0	2	1	6	1	6	4	3	2	1	4	3	2	2	rs142332857	byFrequency	TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:9324972G>A	ENST00000308682.2	-	1	570	c.542C>T	c.(541-543)cCg>cTg	p.P181L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GACCTGAGCCGGTTCACAGAA	0.498													G|||	2	0.000399361	0.0015	0	5008	,	,		21513	0		0	False		,,,				2504	0																0													103	97	99					19																	9324972		2203	4300	6503	SO:0001583	missense	0				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.542C>T	19.37:g.9324972G>A	ENSP00000310488:p.Pro181Leu		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P181L	ENST00000308682.2	37	c.542	CCDS32901.1	19	.	.	.	.	.	.	.	.	.	.	G	0	-2.602749	0.00123	.	.	ENSG00000174667	ENST00000308682	T	0.35236	1.32	4.0	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.669254	0.12970	N	0.424237	T	0.07593	0.0191	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32107	-0.9919	10	0.02654	T	1	.	8.4312	0.32759	0.9027:0.0:0.0973:0.0	.	181	Q8NG98	OR7D4_HUMAN	L	181	ENSP00000310488:P181L	ENSP00000310488:P181L	P	-	2	0	OR7D4	9185972	0.000000	0.05858	0.143000	0.22291	0.102000	0.19082	-0.237000	0.08990	0.723000	0.32274	-0.602000	0.04101	CCG	OR7D4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000174667		0.498	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	HGNC	protein_coding	OTTHUMT00000449004.1	-	0	109	0	G			9324972	-1	tier1	rs142332857	no_errors	ENST00000308682	ensembl	human	known	74_37	missense	9.52	76	8	SNP	0.001	A	A	9324972	G	A	9324972	3	1	93	1	0	0	0	0	1	0	0	0	11259	1116	39	1	400	1	OR7D4	19	9324972	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	309588	9324972	49804011	109	26899											
ZNF681	148213	genome.wustl.edu	37	chr19	23927146	23927146	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgtgaggacttgttaaaAgctttgccacattcttcaca	11	13	9	8	0	2	1	1	1	1	0	2	2	2	2	1	2	2	2	1	2	2	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:23927146A>C	ENST00000402377.3	-	4	1347	c.1206T>G	c.(1204-1206)gcT>gcG	p.A402A	ZNF681_ENST00000395385.3_Silent_p.A333A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTTGTTAAAAGCTTTGCCAC	0.398																																																	0													69	74	72					19																	23927146		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"Zinc fingers, C2H2-type", "-"	26457	protein-coding gene	gene with protein product	"hypothetical protein FLJ31526"						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1206T>G	19.37:g.23927146A>C			B3KVF7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A402	ENST00000402377.3	37	c.1206	CCDS12414.2	19																																																																																			ZNF681	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196172		0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	-	0	70	0	A	NM_138286		23927146	-1	tier1	-	no_errors	ENST00000402377	ensembl	human	known	74_37	silent	9.09	50	5	SNP	0.006	C	C	23927146	A	C	23927146	2	2	93	1	0	0	0	0	0	0	0	1	18136	59	3	4		4	ZNF681	19	23927146	Silent	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	14602174	23927146	35201837	110	26900											
ACTN4	81	genome.wustl.edu	37	chr19	39191311	39191311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaacattgatgaggacttCcgagacgggctcaagctcat	12	8	12	9	2	2	4	2	2	0	2	3	7	3	5	1	2	2	2	1	2	2	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:39191311C>A	ENST00000252699.2	+	2	310	c.234C>A	c.(232-234)ttC>ttA	p.F78L	ACTN4_ENST00000424234.2_Missense_Mutation_p.F78L|ACTN4_ENST00000390009.3_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	78	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAGGACTTCCGAGACGGGC	0.607																																					Colon(168;199 1940 10254 46213 46384)												0													136	108	117					19																	39191311		2203	4300	6503	SO:0001583	missense	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"EF-hand domain containing"	166	protein-coding gene	gene with protein product		604638	"focal segmental glomerulosclerosis 1"	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.234C>A	19.37:g.39191311C>A	ENSP00000252699:p.Phe78Leu		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.F78L	ENST00000252699.2	37	c.234	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278678	0.59758	.	.	ENSG00000130402	ENST00000252699;ENST00000445727;ENST00000424234	D;D	0.90197	-2.63;-2.63	4.35	2.02	0.26589	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.79185	0.4403	N	0.01576	-0.805	0.29694	N	0.84072	B;B	0.22480	0.002;0.07	B;B	0.41202	0.098;0.35	T	0.71394	-0.4606	10	0.19590	T	0.45	.	9.782	0.40653	0.0:0.863:0.0:0.137	.	78;78	E7EV83;O43707	.;ACTN4_HUMAN	L	78	ENSP00000252699:F78L;ENSP00000411187:F78L	ENSP00000252699:F78L	F	+	3	2	ACTN4	43883151	1.000000	0.71417	0.976000	0.42696	0.853000	0.48598	1.971000	0.40530	0.445000	0.26639	0.561000	0.74099	TTC	ACTN4	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000130402		0.607	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1		0	55	0	C			39191311	1			no_errors	ENST00000252699	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	39191311	C	A	39191311	3	1	93	1	0	0	0	0	1	0	0	0	207	854	30	3	240	3	ACTN4	19	39191311	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	15264165	39191311	19937672	111	26901											
ZNF234	10780	genome.wustl.edu	37	chr19	44661481	44661481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatgtggtaaagccttcCgtcagagttcatatcttaaa	13	13	8	7	1	3	1	2	0	1	1	4	1	4	1	2	1	1	3	2	1	7	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:44661481C>T	ENST00000426739.2	+	6	1570	c.1312C>T	c.(1312-1314)Cgt>Tgt	p.R438C	ZNF234_ENST00000592437.1_Missense_Mutation_p.R438C	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TAAAGCCTTCCGTCAGAGTTC	0.418																																																	0													60	61	61					19																	44661481		2072	4242	6314	SO:0001583	missense	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"Zinc fingers, C2H2-type", "-"	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1312C>T	19.37:g.44661481C>T	ENSP00000400878:p.Arg438Cys		A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R438C	ENST00000426739.2	37	c.1312	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787923	0.49997	.	.	ENSG00000167380	ENST00000426739	T	0.07444	3.19	3.94	-3.5	0.04710	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13329	0.0323	M	0.64170	1.965	0.09310	N	1	D	0.76494	0.999	P	0.57679	0.825	T	0.17319	-1.0373	9	0.59425	D	0.04	.	0.8763	0.01224	0.3896:0.1956:0.238:0.1768	.	438	Q14588	ZN234_HUMAN	C	438	ENSP00000400878:R438C	ENSP00000400878:R438C	R	+	1	0	ZNF226	49353321	0.000000	0.05858	0.359000	0.25824	0.995000	0.86356	-1.171000	0.03115	-0.230000	0.09840	0.591000	0.81541	CGT	ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000263002		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	-	0	115	0	C			44661481	1	tier1	-	no_errors	ENST00000426739	ensembl	human	known	74_37	missense	14.29	78	13	SNP	0.040	T	T	44661481	C	T	44661481	3	4	93	1	0	0	0	0	1	0	0	0	17835	652	23	1	1326	1	ZNF234	19	44661481	Missense_Mutation	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	5470170	44661481	14467502	112	26902											
FUZ	80199	genome.wustl.edu	37	chr19	50310555	50310555	+	Frame_Shift_Del	DEL	C	C	-																															cctgtgcctggttcctcagtCcccaacaccaggtagcaagc																										TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:50310555delC	ENST00000313777.4	-	11	1273	c.1110delG	c.(1108-1110)gggfs	p.G370fs	FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_Frame_Shift_Del_p.G334fs|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000533418.1_Frame_Shift_Del_p.G320fs	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	370	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		GTTCCTCAGTCCCCAACACCA	0.637																																																	0													59	53	55					19																	50310555		2203	4300	6503	SO:0001589	frameshift_variant	0			BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"fuzzy homolog (Drosophila)"			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1110delG	19.37:g.50310555delC	ENSP00000313309:p.Gly370fs		B2RD86|B5MDH0|Q6PJY0|Q9H613	Frame_Shift_Del	DEL	NULL	p.T371fs	ENST00000313777.4	37	c.1110	CCDS12781.1	19																																																																																			FUZ	-	NULL	ENSG00000010361		0.637	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUZ	HGNC	protein_coding	OTTHUMT00000393986.1		0	53	0	C	NM_025129		50310555	-1	tier1		no_errors	ENST00000313777	ensembl	human	known	74_37	frame_shift_del	11.76	30	4	DEL	0.035	-	-	50310555	C	-	50310555	7	5	93	1	0	1	0	1	0	0	0	0	6136	842	30	0	150	0	FUZ	19	50310555	Frame_Shift_Del	DEL	C	TCGA-L5-A8NU-01A-11D-A36J-09	5649074	50310555	8818428	113	26903											
ZNF667	63934	genome.wustl.edu	37	chr19	56954005	56954005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcagccactctttcgtGtaggagctttttgttgtgca	5	17	11	8	1	1	0	0	0	1	0	2	1	1	1	1	1	4	6	1	1	1	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:56954005G>T	ENST00000504904.3	-	7	1078	c.359C>A	c.(358-360)aCa>aAa	p.T120K	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.T248K|ZNF667_ENST00000292069.6_Missense_Mutation_p.T120K			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	120					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ACTCTTTCGTGTAGGAGCTTT	0.398																																																	0													92	98	96					19																	56954005		2201	4295	6496	SO:0001583	missense	0				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"Zinc fingers, C2H2-type", "-"	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.359C>A	19.37:g.56954005G>T	ENSP00000439402:p.Thr120Lys		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T248K	ENST00000504904.3	37	c.743	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	G	3.127	-0.179345	0.06380	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.05717	3.4;3.55;3.55	4.77	3.73	0.42828	.	0.165188	0.28977	N	0.013536	T	0.06690	0.0171	L	0.40543	1.245	0.28324	N	0.922081	P;P	0.41313	0.745;0.535	B;B	0.41236	0.351;0.247	T	0.14727	-1.0462	10	0.38643	T	0.18	-3.6902	8.699	0.34314	0.1032:0.0:0.8968:0.0	.	248;120	E7EPS0;Q5HYK9	.;ZN667_HUMAN	K	248;120;120	ENSP00000344699:T248K;ENSP00000439402:T120K;ENSP00000292069:T120K	ENSP00000292069:T120K	T	-	2	0	ZNF667	61645817	.	.	0.876000	0.34364	0.006000	0.05464	.	.	1.369000	0.46134	0.650000	0.86243	ACA	ZNF667	-	NULL	ENSG00000198046		0.398	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1		0	116	0	G	NM_022103		56954005	-1			no_errors	ENST00000342634	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.807	T	T	56954005	G	T	56954005	3	4	93	1	0	0	0	0	1	0	0	0	18122	1377	48	3	1477	3	ZNF667	19	56954005	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	6643450	56954005	2174978	114	26904											
ZNF256	10172	genome.wustl.edu	37	chr19	58452307	58452307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctttatcccttgtgaacGttctgatgttttaggaggtt	8	17	9	7	1	1	2	0	2	1	0	2	3	2	3	2	2	2	3	2	2	4	7			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr19:58452307G>A	ENST00000282308.3	-	3	2065	c.1869C>T	c.(1867-1869)aaC>aaT	p.N623N	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	623					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		CCTTGTGAACGTTCTGATGTT	0.393																																					NSCLC(55;1313 1552 8040 11996)												0													101	93	96					19																	58452307		2203	4300	6503	SO:0001819	synonymous_variant	0			AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"Zinc fingers, C2H2-type", "-"	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1869C>T	19.37:g.58452307G>A			B2RA92|Q53Y85|Q9BV71	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N623	ENST00000282308.3	37	c.1869	CCDS12966.1	19																																																																																			ZNF256	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000152454		0.393	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF256	HGNC	protein_coding	OTTHUMT00000466702.1	-	0	182	0	G			58452307	-1	tier1	-	no_errors	ENST00000282308	ensembl	human	known	74_37	silent	14.29	102	17	SNP	0.000	A	A	58452307	G	A	58452307	2	1	93	1	0	0	0	0	0	0	0	1	17847	1136	40	1		1	ZNF256	19	58452307	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	1498302	58452307	676676	115	26905											
SIM2	6493	genome.wustl.edu	37	chr21	38114049	38114049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggtcaccaccaagtaCtaccggctgctgtccaagcg	9	6	11	15	2	1	0	1	0	0	0	2	0	2	0	5	3	4	3	5	3	4	2			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr21:38114049C>T	ENST00000290399.6	+	8	1495	c.882C>T	c.(880-882)taC>taT	p.Y294Y	SIM2_ENST00000430056.3_Silent_p.Y294Y	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	294	PAC.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCACCAAGTACTACCGGCTGC	0.652																																																	0													52	36	41					21																	38114049		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"Basic helix-loop-helix proteins"	10883	protein-coding gene	gene with protein product	"transcription factor SIM2"	600892	"single-minded (Drosophila) homolog 2", "single-minded homolog 2 (Drosophila)"	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.882C>T	21.37:g.38114049C>T			O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.Y294	ENST00000290399.6	37	c.882	CCDS13646.1	21																																																																																			SIM2	-	pfam_PAS_fold_3,superfamily_PAS,smart_PAC	ENSG00000159263		0.652	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1		0	93	0	C	NM_009586		38114049	1			no_errors	ENST00000290399	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	T	T	38114049	C	T	38114049	2	4	93	1	0	0	0	0	0	0	0	1	14369	576	20	3		3	SIM2	21	38114049	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		38114049	10015846	116	26906											
RFPL2	10739	genome.wustl.edu	37	chr22	32588920	32588920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatccttgggttcatctgCagaatcttcttcagcttggg	6	14	10	11	1	5	1	2	0	3	1	6	1	6	1	1	2	2	4	1	2	1	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr22:32588920C>T	ENST00000400237.1	-	4	1460	c.525G>A	c.(523-525)ctG>ctA	p.L175L	RFPL2_ENST00000248983.4_Silent_p.L85L|RFPL2_ENST00000248980.4_Silent_p.L114L|RFPL2_ENST00000400236.3_Silent_p.L85L|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	175	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GGTTCATCTGCAGAATCTTCT	0.522																																																	0													128	129	129					22																	32588920		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"RING-type (C3HC4) zinc fingers"	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.525G>A	22.37:g.32588920C>T				Silent	SNP	pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.L175	ENST00000400237.1	37	c.525	CCDS43009.2	22																																																																																			RFPL2	-	pfam_RDM_domain_RFPL,pfscan_B30.2/SPRY	ENSG00000128253		0.522	RFPL2-001	KNOWN	basic|CCDS	protein_coding	RFPL2	HGNC	protein_coding	OTTHUMT00000075262.2	-	0	118	0	C	NM_006605		32588920	-1	tier1	-	no_errors	ENST00000400237	ensembl	human	known	74_37	silent	13.19	79	12	SNP	0.039	T	T	32588920	C	T	32588920	2	4	93	1	0	0	0	0	0	0	0	1	13299	697	25	3		3	RFPL2	22	32588920	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09		32588920	18715646	117	26907											
NPTXR	23467	genome.wustl.edu	37	chr22	39222643	39222643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcagccacatgcaggcGgtgaatgcgtagagctcggg	9	5	16	11	4	0	2	0	1	0	1	1	3	0	2	2	3	4	4	2	3	2	1			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chr22:39222643G>A	ENST00000333039.2	-	3	1083	c.960C>T	c.(958-960)acC>acT	p.T320T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	320	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					ACATGCAGGCGGTGAATGCGT	0.622																																					Pancreas(139;2521 3281 36965)												0													88	78	82					22																	39222643		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.960C>T	22.37:g.39222643G>A				Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.T320	ENST00000333039.2	37	c.960	CCDS33647.1	22																																																																																			NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000221890		0.622	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2		0	33	0	G	NM_014293		39222643	-1			no_errors	ENST00000333039	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.323	A	A	39222643	G	A	39222643	2	1	93	1	0	0	0	0	0	0	0	1	10643	1103	39	1		1	NPTXR	22	39222643	Silent	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	6633723	39222643	12081923	118	26908											
RIBC1	158787	genome.wustl.edu	37	chrX	53455374	53455374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgtgaatttagtctttggGatccaggccaagtctggaag	9	11	14	7	1	2	1	0	1	2	0	3	3	3	3	2	4	0	0	2	4	4	3			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chrX:53455374G>T	ENST00000375327.3	+	5	496	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	RIBC1_ENST00000457095.1_Missense_Mutation_p.D115Y|RIBC1_ENST00000414955.2_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	115										lung(2)	2						TAGTCTTTGGGATCCAGGCCA	0.522																																																	0													94	77	83					X																	53455374		2203	4300	6503	SO:0001583	missense	0			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.343G>T	X.37:g.53455374G>T	ENSP00000364476:p.Asp115Tyr		B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	pfam_RIB43A	p.D115Y	ENST00000375327.3	37	c.343	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	G	12.67	2.007826	0.35415	.	.	ENSG00000158423	ENST00000329209;ENST00000457095;ENST00000375327	T;T;T	0.35236	1.32;1.32;1.32	5.18	0.268	0.15626	.	0.599363	0.17249	N	0.181258	T	0.54062	0.1835	M	0.78285	2.405	0.20196	N	0.999924	P;D	0.89917	0.955;1.0	P;D	0.66351	0.577;0.943	T	0.46992	-0.9151	10	0.72032	D	0.01	-0.7878	9.5836	0.39504	0.3914:0.0:0.6086:0.0	.	115;115	Q8N443;Q8N443-2	RIBC1_HUMAN;.	Y	115	ENSP00000332142:D115Y;ENSP00000402080:D115Y;ENSP00000364476:D115Y	ENSP00000332142:D115Y	D	+	1	0	RIBC1	53472099	0.311000	0.24536	0.031000	0.17742	0.513000	0.34164	0.748000	0.26305	-0.122000	0.11766	0.600000	0.82982	GAT	RIBC1	-	pfam_RIB43A	ENSG00000158423		0.522	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	-	0	33	0	G	NM_144968		53455374	1	tier1	-	no_errors	ENST00000375327	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.129	T	T	53455374	G	T	53455374	3	4	93	1	0	0	0	0	1	0	0	0	13397	1174	41	3	353	3	RIBC1	23	53455374	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09		53455374	101815186	119	26909											
CYLC1	1538	genome.wustl.edu	37	chrX	83127967	83127967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggcattctttcagaaaaaTtttgcaatggccacccattt	13	13	6	9	0	2	1	1	0	1	1	2	1	2	1	2	2	1	2	2	2	4	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chrX:83127967T>G	ENST00000329312.4	+	4	288	c.251T>G	c.(250-252)aTt>aGt	p.I84S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	84					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAGAAAAATTTTGCAATGG	0.363																																																	0													33	31	32					X																	83127967		2200	4296	6496	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.251T>G	X.37:g.83127967T>G	ENSP00000331556:p.Ile84Ser		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.I84S	ENST00000329312.4	37	c.251	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	t	10.58	1.389208	0.25118	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.56103	0.48	4.58	-9.17	0.00691	.	.	.	.	.	T	0.39172	0.1068	L	0.54323	1.7	0.09310	N	1	B;B	0.14012	0.009;0.009	B;B	0.13407	0.009;0.009	T	0.29243	-1.0018	9	0.49607	T	0.09	11.152	6.0626	0.19846	0.632:0.0714:0.1813:0.1152	.	84;84	P35663;F5H4V5	CYLC1_HUMAN;.	S	84	ENSP00000331556:I84S	ENSP00000331556:I84S	I	+	2	0	CYLC1	83014623	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-4.642000	0.00204	-4.383000	0.00052	-0.405000	0.06341	ATT	CYLC1	-	NULL	ENSG00000183035		0.363	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	-	0	55	0	T	NM_021118		83127967	1	tier1	-	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	28.07	40	16	SNP	0.000	G	G	83127967	T	G	83127967	3	3	93	1	0	0	0	0	1	0	0	0	4150	1493	52	4	265	4	CYLC1	23	83127967	Missense_Mutation	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09	29672593	83127967	72142593	120	26910											
POF1B	79983	genome.wustl.edu	37	chrX	84600956	84600956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgatggcttggatttgCtggctagaatcaggttgttg	6	15	14	6	0	1	2	1	1	0	1	1	3	1	3	1	4	1	5	1	4	2	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chrX:84600956C>T	ENST00000262753.4	-	6	778	c.633G>A	c.(631-633)caG>caA	p.Q211Q	POF1B_ENST00000373145.3_Silent_p.Q211Q	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	211						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTTGGATTTGCTGGCTAGAAT	0.458																																																	0													231	185	200					X																	84600956		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.633G>A	X.37:g.84600956C>T			A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	NULL	p.Q211	ENST00000262753.4	37	c.633	CCDS14452.1	X																																																																																			POF1B	-	NULL	ENSG00000124429		0.458	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	HGNC	protein_coding	OTTHUMT00000057391.2	-	0	66	0	C	NM_024921		84600956	-1	tier1	-	no_errors	ENST00000373145	ensembl	human	known	74_37	silent	6.90	54	4	SNP	0.000	T	T	84600956	C	T	84600956	2	4	93	1	0	0	0	0	0	0	0	1	12221	796	28	3		3	POF1B	23	84600956	Silent	SNP	C	TCGA-L5-A8NU-01A-11D-A36J-09	1472989	84600956	70669604	121	26911											
CUL4B	8450	genome.wustl.edu	37	chrX	119668405	119668405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaacattagcagcaccaGtgtttgaaaaagagagacct	17	9	8	7	0	0	3	0	1	0	2	0	4	0	3	2	0	3	3	2	0	5	3	rs202209674		TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chrX:119668405G>T	ENST00000404115.3	-	19	2652	c.2251C>A	c.(2251-2253)Ctg>Atg	p.L751M	CUL4B_ENST00000336592.6_Missense_Mutation_p.L738M|CUL4B_ENST00000371322.5_Missense_Mutation_p.L733M	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	751					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCAGCACCAGTGTTTGAAAA	0.343																																																	0													157	148	151					X																	119668405		2203	4300	6503	SO:0001583	missense	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2251C>A	X.37:g.119668405G>T	ENSP00000384109:p.Leu751Met		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L751M	ENST00000404115.3	37	c.2251	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600976	0.66332	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.74632	-0.86;-0.86;-0.86	5.88	5.01	0.66863	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (2);	0.068521	0.64402	N	0.000014	D	0.84800	0.5552	M	0.73372	2.23	0.54753	D	0.999986	B;D;D	0.89917	0.002;1.0;1.0	B;D;D	0.97110	0.016;1.0;1.0	D	0.84974	0.0884	9	.	.	.	-2.2966	14.721	0.69305	0.0:0.0:0.855:0.145	.	555;751;733	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	M	733;738;751	ENSP00000360373:L733M;ENSP00000338919:L738M;ENSP00000384109:L751M	.	L	-	1	2	CUL4B	119552433	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	3.786000	0.55431	1.225000	0.43566	0.544000	0.68410	CTG	CUL4B	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology	ENSG00000158290		0.343	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	-	0	77	0	G	NM_003588		119668405	-1	tier1	-	no_errors	ENST00000404115	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.991	T	T	119668405	G	T	119668405	3	4	93	1	0	0	0	0	1	0	0	0	4067	1020	36	3	506	3	CUL4B	23	119668405	Missense_Mutation	SNP	G	TCGA-L5-A8NU-01A-11D-A36J-09	35067449	119668405	35602155	122	26912											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130218356	130218356	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccccaggttgttgaggcTtgctgccaattcattgaaaa	10	12	9	10	0	1	2	1	2	0	0	2	2	2	2	3	2	2	4	3	2	3	5			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chrX:130218356T>C	ENST00000276211.5	+	5	1068	c.723T>C	c.(721-723)gcT>gcC	p.A241A	ARHGAP36_ENST00000370922.1_Silent_p.A229A|ARHGAP36_ENST00000370921.1_Silent_p.A105A	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	241	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTGTTGAGGCTTGCTGCCAAT	0.448																																																	0													41	39	40					X																	130218356		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.723T>C	X.37:g.130218356T>C			B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A241	ENST00000276211.5	37	c.723	CCDS14628.1	X																																																																																			ARHGAP36	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000147256		0.448	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0	48	0	T	NM_144967		130218356	1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.800	C	C	130218356	T	C	130218356	2	2	93	1	0	0	0	0	0	0	0	1	883	1596	56	4		4	ARHGAP36	23	130218356	Silent	SNP	T	TCGA-L5-A8NU-01A-11D-A36J-09	10549951	130218356	25052204	123	26913											
IGSF1	3547	genome.wustl.edu	37	chrX	130409498	130409498	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaggttgtatcttgatagaActggtccagtcagggtggta	9	13	13	6	0	2	2	1	1	1	1	3	2	3	2	1	4	1	3	1	4	5	6			TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chrX:130409498A>C	ENST00000361420.3	-	16	3217	c.3138T>G	c.(3136-3138)agT>agG	p.S1046R	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.S1051R|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1037R|IGSF1_ENST00000370904.1_Missense_Mutation_p.S1037R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1046	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTTGATAGAACTGGTCCAGT	0.517																																																	0													160	136	144					X																	130409498		2203	4300	6503	SO:0001583	missense	0			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3138T>G	X.37:g.130409498A>C	ENSP00000355010:p.Ser1046Arg		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S1051R	ENST00000361420.3	37	c.3153	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	A	12.54	1.967801	0.34754	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.32	0.793	0.18632	Immunoglobulin-like fold (1);	0.112822	0.40728	N	0.001033	T	0.23886	0.0578	L	0.40543	1.245	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.79784	0.976;0.978;0.993	T	0.06232	-1.0838	10	0.87932	D	0	.	2.9909	0.05982	0.4052:0.0:0.3979:0.1969	.	1037;490;1046	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	R	1037;1046;1037;1051	ENSP00000359947:S1037R;ENSP00000355010:S1046R;ENSP00000359941:S1037R;ENSP00000359940:S1051R	ENSP00000355010:S1046R	S	-	3	2	IGSF1	130237179	0.155000	0.22806	0.048000	0.18961	0.706000	0.40770	0.431000	0.21444	0.151000	0.19162	-0.287000	0.09952	AGT	IGSF1	-	smart_Ig_sub	ENSG00000147255		0.517	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	-	0	45	0	A			130409498	-1	tier1	-	no_errors	ENST00000370903	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.011	C	C	130409498	A	C	130409498	3	2	93	1	0	0	0	0	1	0	0	0	7623	40	2	4	892	4	IGSF1	23	130409498	Missense_Mutation	SNP	A	TCGA-L5-A8NU-01A-11D-A36J-09	191142	130409498	24861062	124	26914											
SLITRK2	84631	genome.wustl.edu	37	chrX	144906321	144906321	+	Frame_Shift_Del	DEL	A	A	-																															ttcctatgaatctcgacgccAaaaccaagacagaatcaata																										TCGA-L5-A8NU-01A-11D-A36J-09	TCGA-L5-A8NU-11A-11D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	917fd740-cafe-43d8-b6fa-276dcc14838c	303bf8fd-fe5c-4e93-ac3f-15411403fef0	g.chrX:144906321delA	ENST00000370490.1	+	1	6633	c.2378delA	c.(2377-2379)caafs	p.Q793fs	SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.Q793fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.Q793fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.Q793fs|TMEM257_ENST00000408967.2_5'Flank|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.Q793fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	793					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCGACGCCAAAACCAAGAC	0.473																																																	0													124	119	120					X																	144906321		2203	4300	6503	SO:0001589	frameshift_variant	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2378delA	X.37:g.144906321delA	ENSP00000359521:p.Gln793fs		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N794fs	ENST00000370490.1	37	c.2378	CCDS14680.1	X																																																																																			SLITRK2	-	NULL	ENSG00000185985		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1		0	58	0	A	NM_032539		144906321	1	tier1		no_errors	ENST00000370490	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-	-	144906321	A	-	144906321	7	5	93	1	0	1	0	1	0	0	0	0	14788	130	5	0	2380	0	SLITRK2	23	144906321	Frame_Shift_Del	DEL	A	TCGA-L5-A8NU-01A-11D-A36J-09	14496823	144906321	10364239	125	26915											
MEGF6	1953	genome.wustl.edu	37	chr1	3431195	3431195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggaccacctggcaccTgtgcatgcagctgccgttcc	5	7	11	18	2	0	0	0	0	0	0	1	1	1	1	7	2	4	5	7	2	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:3431195T>C	ENST00000356575.4	-	7	998	c.772A>G	c.(772-774)Agg>Ggg	p.R258G	MEGF6_ENST00000294599.4_Missense_Mutation_p.R153G	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	258	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACCTGGCACCTGTGCATGCAG	0.697																																					Ovarian(73;978 3658)												0													19	30	26					1																	3431195		2058	4175	6233	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"EGF-like-domain, multiple 3"	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.772A>G	1.37:g.3431195T>C	ENSP00000348982:p.Arg258Gly		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R258G	ENST00000356575.4	37	c.772	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	T	2.051	-0.417749	0.04766	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87103	-2.21;-2.21	4.47	3.3	0.37823	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.233700	0.05509	N	0.559786	T	0.77143	0.4087	N	0.13140	0.3	0.09310	N	1	B;B	0.29253	0.239;0.228	B;B	0.29598	0.07;0.104	T	0.64909	-0.6296	10	0.30854	T	0.27	-1.0633	6.3486	0.21363	0.1437:0.0:0.2814:0.5749	.	258;153	O75095;O75095-2	MEGF6_HUMAN;.	G	153;258	ENSP00000294599:R153G;ENSP00000348982:R258G	ENSP00000294599:R153G	R	-	1	2	MEGF6	3421055	0.002000	0.14202	0.882000	0.34594	0.375000	0.29983	-0.018000	0.12568	0.699000	0.31761	0.402000	0.26972	AGG	MEGF6	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom	ENSG00000162591		0.697	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1		0	24	0	T	NM_001409		3431195	-1			no_errors	ENST00000356575	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.168	C	C	3431195	T	C	3431195	3	2	94	1	0	0	0	0	1	0	0	0	9500	1579	55	4	3977	4	MEGF6	1	3431195	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09		3431195	245819426	1	26916											
TAS1R2	80834	genome.wustl.edu	37	chr1	19180775	19180775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggctgtgcagggcatGggccacagcatagaccgcag	10	4	17	10	1	0	1	0	0	0	1	0	3	0	2	2	4	2	5	2	4	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:19180775G>T	ENST00000375371.3	-	3	1210	c.1189C>A	c.(1189-1191)Cat>Aat	p.H397N	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	397					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGCAGGGCATGGGCCACAGCA	0.607																																																	0													91	81	84					1																	19180775		2203	4300	6503	SO:0001583	missense	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1189C>A	1.37:g.19180775G>T	ENSP00000364520:p.His397Asn		Q5TZ19	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.H397N	ENST00000375371.3	37	c.1189	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.023770	0.35701	.	.	ENSG00000179002	ENST00000375371	D	0.84146	-1.81	4.31	3.4	0.38934	Extracellular ligand-binding receptor (1);	0.486591	0.17107	N	0.186748	D	0.90345	0.6979	M	0.77486	2.375	0.43342	D	0.995397	D	0.89917	1.0	D	0.75484	0.986	D	0.88899	0.3351	10	0.87932	D	0	.	6.4565	0.21932	0.2178:0.0:0.7822:0.0	.	397	Q8TE23	TS1R2_HUMAN	N	397	ENSP00000364520:H397N	ENSP00000364520:H397N	H	-	1	0	TAS1R2	19053362	1.000000	0.71417	0.995000	0.50966	0.141000	0.21300	2.971000	0.49248	1.032000	0.39892	0.462000	0.41574	CAT	TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.607	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1		0	18	0	G			19180775	-1			no_errors	ENST00000375371	ensembl	human	novel	74_37	missense	8.70	21	2	SNP	0.998	T	T	19180775	G	T	19180775	3	4	94	1	0	0	0	0	1	0	0	0	15610	1348	47	3	1346	3	TAS1R2	1	19180775	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	15749580	19180775	230069846	2	26917											
UBR4	23352	genome.wustl.edu	37	chr1	19482038	19482038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtatagatgtacccagccGaagacattataacaatgatg	16	9	9	7	1	0	3	0	1	0	2	0	5	0	3	2	0	3	2	2	0	7	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:19482038G>A	ENST00000375254.3	-	43	6224	c.6197C>T	c.(6196-6198)tCg>tTg	p.S2066L	UBR4_ENST00000375267.2_Missense_Mutation_p.S2066L|UBR4_ENST00000375226.2_Missense_Mutation_p.S2066L|UBR4_ENST00000375217.2_Missense_Mutation_p.S2066L	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2066					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTACCCAGCCGAAGACATTAT	0.438																																																	0													101	91	94					1																	19482038		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6197C>T	1.37:g.19482038G>A	ENSP00000364403:p.Ser2066Leu		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.S2066L	ENST00000375254.3	37	c.6197	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.329448	0.95733	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.48021	0.1477	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.85130	0.997;0.885	T	0.52873	-0.8517	10	0.87932	D	0	.	18.7937	0.91985	0.0:0.0:1.0:0.0	.	2066;2066	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	L	2066;2066;2066;2066;776;1282	ENSP00000364403:S2066L;ENSP00000364416:S2066L;ENSP00000364365:S2066L;ENSP00000364374:S2066L	ENSP00000364365:S2066L	S	-	2	0	UBR4	19354625	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	9.025000	0.93694	2.670000	0.90874	0.650000	0.86243	TCG	UBR4	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000127481		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	34	0	G	NM_020765		19482038	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	A	A	19482038	G	A	19482038	3	1	94	1	0	0	0	0	1	0	0	0	16953	1059	37	1	9610	1	UBR4	1	19482038	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	301263	19482038	229768583	3	26918											
ZRANB2	9406	genome.wustl.edu	37	chr1	71536538	71536538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccttgaacttgagggggAggatgagcgtgatgaagatc	12	8	16	5	1	0	7	0	5	0	2	1	9	0	9	1	3	2	0	1	3	2	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:71536538A>G	ENST00000370920.3	-	7	956	c.655T>C	c.(655-657)Tcc>Ccc	p.S219P	ZRANB2_ENST00000254821.6_Missense_Mutation_p.S219P	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	219	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CTTGAGGGGGAGGATGAGCGT	0.388																																																	0													251	239	243					1																	71536538		2203	4300	6503	SO:0001583	missense	0			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"Zinc fingers, RAN-binding domain containing"	13058	protein-coding gene	gene with protein product		604347	"zinc finger protein 265"	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.655T>C	1.37:g.71536538A>G	ENSP00000359958:p.Ser219Pro		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2	p.S219P	ENST00000370920.3	37	c.655	CCDS659.1	1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231354	0.58777	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.67865	-0.29;-0.27	6.06	6.06	0.98353	.	0.200429	0.56097	D	0.000033	T	0.66723	0.2818	L	0.32530	0.975	0.80722	D	1	D;D	0.57899	0.967;0.981	D;D	0.68621	0.91;0.959	T	0.66905	-0.5805	10	0.36615	T	0.2	.	16.6245	0.84952	1.0:0.0:0.0:0.0	.	219;219	O95218;O95218-2	ZRAB2_HUMAN;.	P	219	ENSP00000359958:S219P;ENSP00000254821:S219P	ENSP00000254821:S219P	S	-	1	0	ZRANB2	71309126	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.323000	0.78572	0.528000	0.53228	TCC	ZRANB2	-	pirsf_UCP037956_Znf_RanB2	ENSG00000132485		0.388	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1	-	0	71	0	A	NM_203350		71536538	-1	tier1	-	no_errors	ENST00000370920	ensembl	human	known	74_37	missense	8.11	68	6	SNP	1.000	G	G	71536538	A	G	71536538	3	3	94	1	0	0	0	0	1	0	0	0	18271	304	11	4	391	4	ZRANB2	1	71536538	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	52054500	71536538	177714083	4	26919											
BRDT	676	genome.wustl.edu	37	chr1	92428479	92428479	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccctttcaacgtcctgtGgatgctgtgaaactacagtt	8	13	10	10	1	1	1	1	1	0	0	2	2	2	2	2	2	4	2	2	2	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:92428479G>T	ENST00000362005.3	+	3	586	c.168G>T	c.(166-168)gtG>gtT	p.V56V	BRDT_ENST00000399546.2_Silent_p.V56V|BRDT_ENST00000402388.1_Silent_p.V56V|BRDT_ENST00000394530.3_Silent_p.V56V|BRDT_ENST00000370389.2_Intron	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	56	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AACGTCCTGTGGATGCTGTGA	0.348																																																	0													112	111	111					1																	92428479		2203	4300	6503	SO:0001819	synonymous_variant	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.168G>T	1.37:g.92428479G>T			A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V56	ENST00000362005.3	37	c.168	CCDS735.1	1																																																																																			BRDT	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000137948		0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2		0	52	0	G	NM_207189		92428479	1			no_errors	ENST00000362005	ensembl	human	known	74_37	silent	5.26	53	3	SNP	0.962	T	T	92428479	G	T	92428479	2	4	94	1	0	0	0	0	0	0	0	1	1512	1335	47	3		3	BRDT	1	92428479	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	20891941	92428479	156822142	5	26920											
COL11A1	1301	genome.wustl.edu	37	chr1	103380337	103380337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctccaggtggaccagcttCccctttctctcctctttctc	4	14	6	17	0	3	0	0	0	3	0	8	1	6	1	5	2	2	2	5	2	0	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:103380337C>T	ENST00000370096.3	-	51	4159	c.3847G>A	c.(3847-3849)Gaa>Aaa	p.E1283K	COL11A1_ENST00000358392.2_Missense_Mutation_p.E1295K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1244K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1167K	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1283	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAGCTTCCCCTTTCTCT	0.468																																																	0													49	48	48					1																	103380337		2203	4300	6503	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3847G>A	1.37:g.103380337C>T	ENSP00000359114:p.Glu1283Lys		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.E1295K	ENST00000370096.3	37	c.3883	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464613	0.84425	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96587	-3.36;-3.18;-4.06;-4.06	5.73	5.73	0.89815	.	0.055265	0.64402	D	0.000001	D	0.97303	0.9118	L	0.52206	1.635	0.80722	D	1	D;D;P;D;D	0.71674	0.982;0.998;0.904;0.997;0.974	D;D;D;D;D	0.78314	0.952;0.991;0.931;0.98;0.969	D	0.97717	1.0194	10	0.72032	D	0.01	.	19.8928	0.96935	0.0:1.0:0.0:0.0	.	1167;1244;1295;1283;503	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	K	1283;1295;1244;503;1167	ENSP00000359114:E1283K;ENSP00000351163:E1295K;ENSP00000302551:E1244K;ENSP00000426533:E1167K	ENSP00000302551:E1244K	E	-	1	0	COL11A1	103152925	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.403000	0.79983	2.713000	0.92767	0.591000	0.81541	GAA	COL11A1	-	NULL	ENSG00000060718		0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0	54	0	C	NM_080630		103380337	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T	T	103380337	C	T	103380337	3	4	94	1	0	0	0	0	1	0	0	0	3674	864	30	3	1641	3	COL11A1	1	103380337	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	10951858	103380337	145870284	6	26921											
ATXN7L2	127002	genome.wustl.edu	37	chr1	110032706	110032706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctgacgacctccacccaCcccctgactgccattatgca	9	8	5	19	1	1	2	0	2	1	0	2	3	2	2	6	0	2	1	6	0	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:110032706C>T	ENST00000369870.3	+	8	1207	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	398										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCTCCACCCACCCCCTGACTG	0.672																																																	0													50	53	52					1																	110032706		2203	4300	6503	SO:0001583	missense	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1192C>T	1.37:g.110032706C>T	ENSP00000358886:p.Pro398Ser			Missense_Mutation	SNP	pfam_SCA7_dom	p.P398S	ENST00000369870.3	37	c.1192	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	C	8.061	0.768034	0.15983	.	.	ENSG00000162650	ENST00000369870;ENST00000541125;ENST00000369869	T	0.39997	1.05	5.82	0.185	0.15096	.	0.954835	0.08733	N	0.901727	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33624	-0.9861	10	0.33940	T	0.23	-0.462	2.3592	0.04303	0.1173:0.4328:0.1267:0.3232	.	398	Q5T6C5	AT7L2_HUMAN	S	398;398;25	ENSP00000358886:P398S	ENSP00000358885:P25S	P	+	1	0	ATXN7L2	109834229	0.000000	0.05858	0.987000	0.45799	0.994000	0.84299	-0.230000	0.09083	0.095000	0.17434	0.655000	0.94253	CCC	ATXN7L2	-	NULL	ENSG00000162650		0.672	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	-	0	74	0	C	NM_153340		110032706	1	tier1	-	no_errors	ENST00000369870	ensembl	human	known	74_37	missense	16.05	68	13	SNP	0.001	T	T	110032706	C	T	110032706	3	4	94	1	0	0	0	0	1	0	0	0	1218	507	18	3	1222	3	ATXN7L2	1	110032706	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	6652369	110032706	139217915	7	26922											
PLEKHO1	51177	genome.wustl.edu	37	chr1	150131624	150131624	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggaggtcagggagcTgagagacctgtacagacaga	12	5	16	8	0	1	4	1	1	0	3	1	7	1	6	1	3	3	4	1	3	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:150131624T>C	ENST00000369124.4	+	6	1414	c.1136T>C	c.(1135-1137)cTg>cCg	p.L379P	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.L196P|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.L345P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	379	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCAGGGAGCTGAGAGACCTG	0.607																																																	0													40	44	43					1																	150131624		2203	4300	6503	SO:0001583	missense	0			AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"Pleckstrin homology (PH) domain containing"	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1136T>C	1.37:g.150131624T>C	ENSP00000358120:p.Leu379Pro		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L345P	ENST00000369124.4	37	c.1034	CCDS945.1	1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288253	0.80803	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124	T;T	0.72505	-0.66;-0.31	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.69468	0.3114	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76016	-0.3113	10	0.87932	D	0	-15.1474	14.2814	0.66216	0.0:0.0:0.0:1.0	.	379	Q53GL0	PKHO1_HUMAN	P	196;345;379	ENSP00000025469:L345P;ENSP00000358120:L379P	ENSP00000025469:L345P	L	+	2	0	PLEKHO1	148398248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.064000	0.76721	2.155000	0.67459	0.533000	0.62120	CTG	PLEKHO1	-	NULL	ENSG00000023902		0.607	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHO1	HGNC	protein_coding	OTTHUMT00000034962.1	-	0	50	0	T	NM_016274		150131624	1	tier1	-	no_errors	ENST00000025469	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	C	C	150131624	T	C	150131624	3	2	94	1	0	0	0	0	1	0	0	0	12123	1580	55	4	1158	4	PLEKHO1	1	150131624	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	40098918	150131624	99118997	8	26923											
HAX1	10456	genome.wustl.edu	37	chr1	154245866	154245866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaagatgatgatgaggaAgaagaagaagaagggggctc	17	5	17	2	0	0	9	0	4	0	5	1	11	0	10	0	3	0	1	0	3	6	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:154245866A>G	ENST00000328703.7	+	2	321	c.108A>G	c.(106-108)gaA>gaG	p.E36E	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Silent_p.E36E|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	36	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATGATGAGGAAGAAGAAGAAG	0.517									Kostmann syndrome																																								0													58	58	58					1																	154245866		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"HCLS1 (and PKD2) associated protein"	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.108A>G	1.37:g.154245866A>G			A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Silent	SNP	pirsf_HS1--assoc_X-1	p.E36	ENST00000328703.7	37	c.108	CCDS1064.1	1																																																																																			HAX1	-	pirsf_HS1--assoc_X-1	ENSG00000143575		0.517	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1		0	28	0	A	NM_006118		154245866	1			no_errors	ENST00000483970	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.715	G	G	154245866	A	G	154245866	2	3	94	1	0	0	0	0	0	0	0	1	7002	69	3	4		4	HAX1	1	154245866	Silent	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	4114242	154245866	95004755	9	26924											
SPTA1	6708	genome.wustl.edu	37	chr1	158639308	158639308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactccttcagcaatctacGtctagtggcagccttttcac	8	13	7	13	1	4	1	2	1	2	0	5	1	5	1	2	1	3	2	2	1	3	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:158639308G>A	ENST00000368147.4	-	14	1903	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	575					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAATCTACGTCTAGTGGCA	0.448																																																	0													171	159	163					1																	158639308		1939	4145	6084	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1723C>T	1.37:g.158639308G>A	ENSP00000357129:p.Arg575Cys		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.R575C	ENST00000368147.4	37	c.1723	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464772	0.63513	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.72	2.73	0.32206	.	0.319683	0.16110	N	0.229160	T	0.65688	0.2715	M	0.85630	2.765	0.41841	D	0.990124	D	0.89917	1.0	D	0.76575	0.988	T	0.70088	-0.4968	10	0.59425	D	0.04	.	12.2276	0.54470	0.0:0.0:0.6804:0.3196	.	575	P02549	SPTA1_HUMAN	C	575	ENSP00000357130:R575C;ENSP00000357129:R575C	ENSP00000357129:R575C	R	-	1	0	SPTA1	156905932	1.000000	0.71417	0.001000	0.08648	0.010000	0.07245	3.869000	0.56062	0.631000	0.30412	0.655000	0.94253	CGT	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.448	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	52	0	G	NM_003126		158639308	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	missense	5.36	52	3	SNP	0.852	A	A	158639308	G	A	158639308	3	1	94	1	0	0	0	0	1	0	0	0	15163	1145	40	1	5692	1	SPTA1	1	158639308	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	4393442	158639308	90611313	10	26925											
OR10J1	26476	genome.wustl.edu	37	chr1	159410362	159410362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccattgcctacctcaagCccaagtcagagaacaccaga	13	6	6	16	0	2	2	2	0	0	2	3	3	3	2	6	0	4	0	6	0	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:159410362C>T	ENST00000423932.3	+	1	851	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	272					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTACCTCAAGCCCAAGTCAGA	0.522																																																	0													161	132	142					1																	159410362		2203	4300	6503	SO:0001583	missense	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"GPCR / Class A : Olfactory receptors"	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.814C>T	1.37:g.159410362C>T	ENSP00000399078:p.Pro272Ser		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P272S	ENST00000423932.3	37	c.814	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216114	0.58452	.	.	ENSG00000196184	ENST00000423932	T	0.00262	8.4	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000944	T	0.00210	0.0006	M	0.71871	2.18	0.32398	N	0.552387	P	0.44195	0.828	P	0.50934	0.654	T	0.59600	-0.7424	10	0.66056	D	0.02	.	14.9127	0.70770	0.0:1.0:0.0:0.0	.	272	P30954	O10J1_HUMAN	S	272	ENSP00000399078:P272S	ENSP00000399078:P272S	P	+	1	0	OR10J1	157676986	0.429000	0.25530	1.000000	0.80357	0.988000	0.76386	1.867000	0.39499	2.423000	0.82170	0.650000	0.86243	CCC	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196184		0.522	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0	46	0	C	NM_012351		159410362	1	tier1	-	no_errors	ENST00000423932	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T	T	159410362	C	T	159410362	3	4	94	1	0	0	0	0	1	0	0	0	10949	739	26	3	816	3	OR10J1	1	159410362	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	771054	159410362	89840259	11	26926											
ATP1A2	477	genome.wustl.edu	37	chr1	160105632	160105632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatctccccacaggccGcctgatctttgacaacttga	10	10	7	14	1	3	4	1	3	2	1	4	4	3	4	4	1	1	0	4	1	2	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:160105632G>A	ENST00000361216.3	+	17	2377	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R763H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	763					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCCACAGGCCGCCTGATCTTT	0.572																																																	0			GRCh37	CM041248	ATP1A2	M							137	123	127					1																	160105632		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"ATPases / P-type"	800	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-2", "sodium pump subunit alpha-2", "sodium-potassium ATPase catalytic subunit alpha-2"	182340	"migraine, hemiplegic 2", "ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2288G>A	1.37:g.160105632G>A	ENSP00000354490:p.Arg763His		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.R763H	ENST00000361216.3	37	c.2288	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.843124|4.843124	0.91197|0.91197	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.97480	.|-4.4;-4.4	4.39|4.39	4.39|4.39	0.52855|0.52855	.|ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99171|0.99171	0.9713|0.9713	H|H	0.99249|0.99249	4.485|4.485	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.98565|0.98565	1.0643|1.0643	5|10	.|0.87932	.|D	.|0	.|.	14.335|14.335	0.66584|0.66584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|663;763	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	T|H	474|763;763;466	.|ENSP00000354490:R763H;ENSP00000376066:R763H	.|ENSP00000354490:R763H	A|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158372256|158372256	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.536000|9.536000	0.98067|0.98067	2.427000|2.427000	0.82271|0.82271	0.561000|0.561000	0.74099|0.74099	GCC|CGC	ATP1A2	-	tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000018625		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0	48	0	G	NM_000702		160105632	1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	A	A	160105632	G	A	160105632	3	1	94	1	0	0	0	0	1	0	0	0	1130	1087	38	1	2354	1	ATP1A2	1	160105632	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	695270	160105632	89144989	12	26927											
SLAMF1	6504	genome.wustl.edu	37	chr1	160593951	160593951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaccccctaacagcccaGcatacactgcccatggtttt	10	9	6	16	0	0	1	0	1	0	0	0	1	0	1	4	1	5	2	4	1	2	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:160593951G>A	ENST00000302035.6	-	4	1074	c.725C>T	c.(724-726)gCt>gTt	p.A242V	SLAMF1_ENST00000235739.5_Intron|SLAMF1_ENST00000538290.1_Missense_Mutation_p.A242V|SLAMF1_ENST00000355199.3_Missense_Mutation_p.A242V	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	242					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TAACAGCCCAGCATACACTGC	0.383																																																	0													177	165	169					1																	160593951		2203	4300	6503	SO:0001583	missense	0			U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10903	protein-coding gene	gene with protein product		603492	"signaling lymphocytic activation molecule"	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.725C>T	1.37:g.160593951G>A	ENSP00000306190:p.Ala242Val		Q5W172|Q9HBE8	Missense_Mutation	SNP	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom	p.A242V	ENST00000302035.6	37	c.725	CCDS1207.1	1	.	.	.	.	.	.	.	.	.	.	G	0.710	-0.787550	0.02884	.	.	ENSG00000117090	ENST00000302035;ENST00000538290;ENST00000355199	T;T;T	0.44083	0.93;0.93;0.93	3.65	-2.84	0.05751	.	2.744850	0.01361	N	0.012242	T	0.08935	0.0221	N	0.21142	0.635	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.08638	-1.0712	10	0.09590	T	0.72	-22.512	8.8973	0.35472	0.5912:0.0:0.4088:0.0	.	242	Q13291	SLAF1_HUMAN	V	242	ENSP00000306190:A242V;ENSP00000438406:A242V;ENSP00000347333:A242V	ENSP00000306190:A242V	A	-	2	0	SLAMF1	158860575	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-0.645000	0.05458	-0.827000	0.03088	GCT	SLAMF1	-	NULL	ENSG00000117090		0.383	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	HGNC	protein_coding	OTTHUMT00000060454.1		0	46	0	G			160593951	-1			no_errors	ENST00000302035	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.000	A	A	160593951	G	A	160593951	3	1	94	1	0	0	0	0	1	0	0	0	14412	971	34	3	298	3	SLAMF1	1	160593951	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	488319	160593951	88656670	13	26928											
PVRL4	81607	genome.wustl.edu	37	chr1	161042504	161042504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccattgcccgtgggcttggCccgtagggtcccattctcct	3	11	12	15	2	1	0	0	0	1	0	3	0	2	0	5	3	1	2	5	3	1	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:161042504C>T	ENST00000368012.3	-	9	1782	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	PVRL4_ENST00000453926.2_Missense_Mutation_p.A203T|ARHGAP30_ENST00000368013.3_5'Flank|ARHGAP30_ENST00000368015.1_5'Flank|PVRL4_ENST00000486694.1_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	494					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTGGGCTTGGCCCGTAGGGTC	0.597																																					NSCLC(76;1160 1387 14476 16172 29359)												0													140	119	126					1																	161042504		2203	4300	6503	SO:0001583	missense	0			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1480G>A	1.37:g.161042504C>T	ENSP00000356991:p.Ala494Thr		B4DQW3|Q96K15	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A494T	ENST00000368012.3	37	c.1480	CCDS1216.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635364	0.87760	.	.	ENSG00000143217	ENST00000368012;ENST00000453926	T;T	0.50277	0.75;1.17	4.85	4.85	0.62838	.	0.000000	0.47455	D	0.000239	T	0.45357	0.1338	N	0.19112	0.55	0.41494	D	0.988249	D;D;D	0.69078	0.993;0.993;0.997	D;D;D	0.77004	0.956;0.956;0.989	T	0.52193	-0.8608	10	0.59425	D	0.04	.	15.5133	0.75802	0.0:1.0:0.0:0.0	.	203;148;494	B4DQW3;B4DWD4;Q96NY8	.;.;PVRL4_HUMAN	T	494;203	ENSP00000356991:A494T;ENSP00000406015:A203T	ENSP00000356991:A494T	A	-	1	0	PVRL4	159309128	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.636000	0.61339	2.504000	0.84457	0.655000	0.94253	GCC	PVRL4	-	NULL	ENSG00000143217		0.597	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL4	HGNC	protein_coding	OTTHUMT00000077074.1		0	52	0	C	NM_030916		161042504	-1			no_errors	ENST00000368012	ensembl	human	known	74_37	missense	6.82	41	3	SNP	1.000	T	T	161042504	C	T	161042504	3	4	94	1	0	0	0	0	1	0	0	0	12887	739	26	3	56	3	PVRL4	1	161042504	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	448553	161042504	88208117	14	26929											
TADA1	117143	genome.wustl.edu	37	chr1	166831598	166831598	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatcatcttggggatcctTtgccacaaattgctgggctc	7	13	10	11	0	3	0	2	0	1	0	5	1	4	1	2	3	2	2	2	3	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:166831598T>A	ENST00000367874.4	-	5	475	c.382A>T	c.(382-384)Aag>Tag	p.K128*	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	128					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TGGGGATCCTTTGCCACAAAT	0.418																																																	0													115	103	107					1																	166831598		2203	4300	6503	SO:0001587	stop_gained	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.382A>T	1.37:g.166831598T>A	ENSP00000356848:p.Lys128*		A8K4J9	Nonsense_Mutation	SNP	superfamily_Histone-fold	p.K128*	ENST00000367874.4	37	c.382	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	T	37	6.465682	0.97590	.	.	ENSG00000152382	ENST00000367874	.	.	.	6.16	6.16	0.99307	.	0.107611	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.3439	14.7581	0.69583	0.0:0.0:0.0:1.0	.	.	.	.	X	128	.	ENSP00000356848:K128X	K	-	1	0	TADA1	165098222	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.593000	0.54001	2.367000	0.80283	0.528000	0.53228	AAG	TADA1	-	NULL	ENSG00000152382		0.418	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	-	0	54	0	T	NM_053053		166831598	-1	tier1	-	no_errors	ENST00000367874	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	0.977	A	A	166831598	T	A	166831598	4	1	94	1	0	0	0	0	0	1	0	0	15556	1850	64	5	641	5	TADA1	1	166831598	Nonsense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	5789094	166831598	82419023	15	26930											
ADCY10	55811	genome.wustl.edu	37	chr1	167873231	167873231	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcattgcagtaaaaccTggaataaatgtgcagctggt	13	11	10	7	0	2	0	2	0	0	0	2	1	2	1	1	2	4	4	1	2	5	3	rs142062218		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:167873231T>C	ENST00000367851.4	-	3	333		c.e3-2		ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Splice_Site	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)						cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAGTAAAACCTGGAATAAATG	0.488																																																	0								T	,	1,4405	2.1+/-5.4	0,1,2202	106	97	100		,	5.6	1	1	dbSNP_134	100	0,8600		0,0,4300	no	intron,splice-3	ADCY10	NM_001167749.1,NM_018417.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	,	167873231	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.149-2A>G	1.37:g.167873231T>C			B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Splice_Site	SNP	-	e2-2	ENST00000367851.4	37	c.149-2	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814723	0.70912	2.27E-4	0.0	ENSG00000143199	ENST00000367851	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1481	0.54034	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADCY10	166139855	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	4.439000	0.59968	2.111000	0.64477	0.533000	0.62120	.	ADCY10	-	-	ENSG00000143199		0.488	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	-	0	88	0	T	NM_018417	Intron	167873231	-1	tier1	rs142062218	no_errors	ENST00000367851	ensembl	human	known	74_37	splice_site	7.89	70	6	SNP	1.000	C	C	167873231	T	C	167873231	5	2	94	1	0	0	0	0	0	0	1	0	293	1594	55	4	4809	4	ADCY10	1	167873231	Splice_Site	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	1041633	167873231	81377390	16	26931											
ANKRD45	339416	genome.wustl.edu	37	chr1	173596207	173596207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcacaatacagtaccttGtcttccttaaggagtttccc	11	14	5	11	0	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	5	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:173596207G>T	ENST00000333279.2	-	4	648	c.588C>A	c.(586-588)gaC>gaA	p.D196E		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	212										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ACAGTACCTTGTCTTCCTTAA	0.363																																																	0													153	154	153					1																	173596207		2203	4300	6503	SO:0001583	missense	0				CCDS1309.1	1q25.1	2013-01-10			ENSG00000183831	ENSG00000183831		"Ankyrin repeat domain containing"	24786	protein-coding gene	gene with protein product	"cancer/testis antigen 117"						Standard	NM_198493		Approved	FLJ45235, CT117	uc001gja.1	Q5TZF3	OTTHUMG00000040546	ENST00000333279.2:c.588C>A	1.37:g.173596207G>T	ENSP00000331268:p.Asp196Glu		A1A4G2|Q6ZST1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D196E	ENST00000333279.2	37	c.588	CCDS1309.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340846	0.41498	.	.	ENSG00000183831	ENST00000333279	T	0.15487	2.42	5.35	0.0275	0.14155	.	0.123358	0.52532	D	0.000075	T	0.05364	0.0142	M	0.66560	2.04	0.32282	N	0.567433	B	0.33212	0.402	B	0.33196	0.159	T	0.32268	-0.9913	10	0.23891	T	0.37	-12.826	4.4342	0.11542	0.3316:0.0:0.5232:0.1452	.	212	Q5TZF3	ANR45_HUMAN	E	196	ENSP00000331268:D196E	ENSP00000331268:D196E	D	-	3	2	ANKRD45	171862830	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	0.980000	0.29513	-0.245000	0.09625	-0.321000	0.08615	GAC	ANKRD45	-	NULL	ENSG00000183831		0.363	ANKRD45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD45	HGNC	protein_coding	OTTHUMT00000097580.2	-	0	40	0	G	NM_198493		173596207	-1	tier1	-	no_errors	ENST00000333279	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.997	T	T	173596207	G	T	173596207	3	4	94	1	0	0	0	0	1	0	0	0	673	1368	48	3	224	3	ANKRD45	1	173596207	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	5722976	173596207	75654414	17	26932											
TDRD5	163589	genome.wustl.edu	37	chr1	179590227	179590230	+	Splice_Site	DEL	GTAA	GTAA	-																															aactgcttggagagtatgagGtaagtgttttgcttttcccc																										TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:179590227_179590230delGTAA	ENST00000367614.1	+	6	1331		c.e6+1		TDRD5_ENST00000294848.8_Splice_Site|TDRD5_ENST00000444136.1_Splice_Site	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5						DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGAGTATGAGGTAAGTGTTTTGCT	0.358																																																	0																																										SO:0001630	splice_region_variant	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"Tudor domain containing"	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.972+1GTAA>-	1.37:g.179590227_179590230delGTAA			A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Splice_Site	DEL	-	e5+1	ENST00000367614.1	37	c.972+1_972+1	CCDS1332.1	1																																																																																			TDRD5	-	-	ENSG00000162782		0.358	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1		0	60	0	GTAA	NM_173533	Intron	179590230	1	tier1		no_errors	ENST00000444136	ensembl	human	known	74_37	splice_site_del	14.29	66	11	DEL	1.000:1.000:0.997:0.996	-	-	179590230	GTAA	-	179590227	8	5	94	1	0	1	0	1	0	0	1	0	15780	1275	44	0	991	0	TDRD5	1	179590227	Splice_Site	DEL	GTAA	TCGA-L5-A8NV-01A-11D-A37C-09	5994020	179590227	69660394	18	26933											
CNTN2	6900	genome.wustl.edu	37	chr1	205039134	205039134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaagatccgcagctacaaCcgccgcggggatgggcccga	9	4	14	14	5	1	1	1	0	0	1	2	3	2	2	4	3	3	2	4	3	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:205039134C>T	ENST00000331830.4	+	18	2660	c.2376C>T	c.(2374-2376)aaC>aaT	p.N792N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	792	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAGCTACAACCGCCGCGGGG	0.662																																					Melanoma(183;2548 2817 37099 41192)												0													35	40	38					1																	205039134		2203	4299	6502	SO:0001819	synonymous_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2376C>T	1.37:g.205039134C>T			P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.N792	ENST00000331830.4	37	c.2376	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000184144		0.662	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	-	0	57	0	C	NM_005076		205039134	1	tier1	-	no_errors	ENST00000331830	ensembl	human	known	74_37	silent	42.11	33	24	SNP	1.000	T	T	205039134	C	T	205039134	2	4	94	1	0	0	0	0	0	0	0	1	3648	506	18	3		3	CNTN2	1	205039134	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	25448907	205039134	44211487	19	26934											
LYPLAL1	127018	genome.wustl.edu	37	chr1	219347271	219347271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggttctgcagcgctgtatCgtgtcgccggcagggaggca	5	9	16	11	5	1	0	0	0	1	0	4	1	1	1	1	4	2	6	1	4	1	2	rs372613753		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:219347271C>T	ENST00000366928.5	+	1	86	c.39C>T	c.(37-39)atC>atT	p.I13I	LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Silent_p.I13I|RP11-135J2.4_ENST00000441331.1_RNA	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	13					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		AGCGCTGTATCGTGTCGCCGG	0.632																																																	0													73	65	68					1																	219347271		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.39C>T	1.37:g.219347271C>T			A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Silent	SNP	pfam_PLipase/COase/thioEstase,pfam_Dienelactn_hydro,pfam_Esterase_put	p.I13	ENST00000366928.5	37	c.39	CCDS1522.1	1																																																																																			LYPLAL1	-	pfam_PLipase/COase/thioEstase	ENSG00000143353		0.632	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	-	0	63	0	C	NM_138794		219347271	1	tier1	-	no_errors	ENST00000366928	ensembl	human	known	74_37	silent	36.11	23	13	SNP	0.096	T	T	219347271	C	T	219347271	2	4	94	1	0	0	0	0	0	0	0	1	9154	874	31	1		1	LYPLAL1	1	219347271	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	14308137	219347271	29903350	20	26935											
TP53BP2	7159	genome.wustl.edu	37	chr1	223986289	223986289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcttaatgtctgaaggtgGctgattagtttgtccaaaat	10	15	11	5	0	1	2	0	2	1	0	2	2	2	2	1	3	0	3	1	3	5	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:223986289G>A	ENST00000343537.7	-	12	1867	c.1576C>T	c.(1576-1578)Cca>Tca	p.P526S	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000391878.2_Missense_Mutation_p.P397S	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	520					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TCTGAAGGTGGCTGATTAGTT	0.428																																																	0													89	91	90					1																	223986289		2203	4300	6503	SO:0001583	missense	0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1576C>T	1.37:g.223986289G>A	ENSP00000341957:p.Pro526Ser		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.P526S	ENST00000343537.7	37	c.1576	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052117	0.19827	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.45668	0.89;1.06	5.55	-6.3	0.02007	.	0.833908	0.11202	N	0.588737	T	0.15869	0.0382	N	0.05510	-0.035	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28964	-1.0027	10	0.17369	T	0.5	.	7.3698	0.26794	0.1488:0.1193:0.6137:0.1182	.	526;520	B4DG66;Q13625	.;ASPP2_HUMAN	S	397;526	ENSP00000375750:P397S;ENSP00000341957:P526S	ENSP00000341957:P526S	P	-	1	0	TP53BP2	222052912	0.991000	0.36638	0.000000	0.03702	0.782000	0.44232	0.746000	0.26275	-0.785000	0.04522	-0.258000	0.10820	CCA	TP53BP2	-	NULL	ENSG00000143514		0.428	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	-	0	75	0	G	NM_001031685, NM_005426		223986289	-1	tier1	-	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A	A	223986289	G	A	223986289	3	1	94	1	0	0	0	0	1	0	0	0	16432	1203	42	3	1856	3	TP53BP2	1	223986289	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	4639018	223986289	25264332	21	26936											
OBSCN	84033	genome.wustl.edu	37	chr1	228404905	228404905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacgcggcaccggctggtgGcagccacagtcaccaggcag	8	3	16	14	3	1	0	1	0	0	0	1	1	1	1	3	6	1	4	3	6	0	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:228404905G>A	ENST00000422127.1	+	8	2613	c.2569G>A	c.(2569-2571)Gca>Aca	p.A857T	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.A857T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A857T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	857	Ig-like 8.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGCTGGTGGCAGCCACAGT	0.657																																																	0													42	50	47					1																	228404905		2151	4255	6406	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2569G>A	1.37:g.228404905G>A	ENSP00000409493:p.Ala857Thr		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A857T	ENST00000422127.1	37	c.2569	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	12.77	2.036476	0.35893	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.66815	-0.23;-0.23	4.82	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.806988	0.10949	N	0.616251	T	0.54549	0.1865	N	0.13098	0.295	0.28106	N	0.931215	P;P	0.47910	0.801;0.902	B;B	0.44133	0.272;0.442	T	0.48281	-0.9049	10	0.41790	T	0.15	.	13.687	0.62522	0.0:0.1562:0.8438:0.0	.	857;857	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	857	ENSP00000284548:A857T;ENSP00000409493:A857T	ENSP00000284548:A857T	A	+	1	0	OBSCN	226471528	0.092000	0.21681	0.004000	0.12327	0.380000	0.30137	0.771000	0.26633	1.214000	0.43395	0.655000	0.94253	GCA	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154358		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0	78	0	G	NM_052843		228404905	1			no_errors	ENST00000422127	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.029	A	A	228404905	G	A	228404905	3	1	94	1	0	0	0	0	1	0	0	0	10851	1203	42	3	2595	3	OBSCN	1	228404905	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	4418616	228404905	20845716	22	26937											
DISC1	27185	genome.wustl.edu	37	chr1	232172460	232172460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcaggagggagctccaGatggtgaaggaaactctgca	11	8	13	9	0	3	2	1	1	2	1	5	5	4	5	1	4	3	2	1	4	2	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:232172460G>T	ENST00000439617.2	+	13	2501	c.2448G>T	c.(2446-2448)caG>caT	p.Q816H	DISC1_ENST00000366637.3_Missense_Mutation_p.Q126H	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	816	Interaction with ATF4 and ATF5.|Interaction with NDEL1.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.Q848H(1)|p.Q848Q(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGGAGCTCCAGATGGTGAAGG	0.582																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											33	37	36					1																	232172460		2000	4170	6170	SO:0001583	missense	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000439617.2:c.2448G>T	1.37:g.232172460G>T	ENSP00000403888:p.Gln816His		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.Q816H	ENST00000439617.2	37	c.2448		1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331725	0.81690	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366638;ENST00000532576	T	0.12255	2.7	5.51	5.51	0.81932	.	0.150456	0.44483	D	0.000459	T	0.25827	0.0629	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.01312	-1.1388	10	0.72032	D	0.01	-13.595	17.8434	0.88721	0.0:0.0:1.0:0.0	.	794;816	Q9NRI5-2;Q9NRI5	.;DISC1_HUMAN	H	816;794;848;694	ENSP00000403888:Q816H	ENSP00000355597:Q794H	Q	+	3	2	DISC1	230239083	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.179000	0.71974	2.881000	0.98747	0.650000	0.86243	CAG	DISC1	-	NULL	ENSG00000162946		0.582	DISC1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000092351.2	-	0	43	0	G	NM_018662		232172460	1	tier1	-	no_errors	ENST00000439617	ensembl	human	known	74_37	missense	32.26	42	20	SNP	1.000	T	T	232172460	G	T	232172460	3	4	94	1	0	0	0	0	1	0	0	0	4552	933	33	3	3339	3	DISC1	1	232172460	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	3767555	232172460	17078161	23	26938											
NID1	4811	genome.wustl.edu	37	chr1	236187408	236187408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaagccgatggagCactcgcaggtgaactgtgtc	8	8	13	12	3	0	1	0	1	0	0	4	4	1	3	2	3	3	2	2	3	2	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:236187408C>G	ENST00000264187.6	-	9	2172	c.2090G>C	c.(2089-2091)tGc>tCc	p.C697S	NID1_ENST00000366595.3_Missense_Mutation_p.C697S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	697	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GCCGATGGAGCACTCGCAGGT	0.592																																																	0													72	64	67					1																	236187408		2203	4300	6503	SO:0001583	missense	0			BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"nidogen (enactin)"	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2090G>C	1.37:g.236187408C>G	ENSP00000264187:p.Cys697Ser		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.C697S	ENST00000264187.6	37	c.2090	CCDS1608.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.137865	0.94517	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.99903	-7.67;-7.67	5.85	5.85	0.93711	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99939	0.9973	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.95	D	0.96611	0.9452	10	0.49607	T	0.09	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	697;697	P14543-2;P14543	.;NID1_HUMAN	S	697	ENSP00000264187:C697S;ENSP00000355554:C697S	ENSP00000264187:C697S	C	-	2	0	NID1	234254031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.476000	0.81055	2.767000	0.95098	0.655000	0.94253	TGC	NID1	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000116962		0.592	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID1	HGNC	protein_coding	OTTHUMT00000096647.2	-	0	46	0	C	NM_002508		236187408	-1	tier1	-	no_errors	ENST00000264187	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	G	G	236187408	C	G	236187408	3	3	94	1	0	0	0	0	1	0	0	0	10453	710	25	5	1701	5	NID1	1	236187408	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	4014948	236187408	13063213	24	26939											
CHML	1122	genome.wustl.edu	37	chr1	241798773	241798773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtagcaaaaagcttctGtgtgttgaatagtttcatcc	10	14	10	7	1	2	1	1	1	1	0	3	1	3	1	1	1	2	5	1	1	5	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr1:241798773G>T	ENST00000366553.1	-	1	459	c.296C>A	c.(295-297)aCa>aAa	p.T99K	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	99					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.T99R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAAAGCTTCTGTGTGTTGAAT	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											207	208	208					1																	241798773		2203	4299	6502	SO:0001583	missense	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.296C>A	1.37:g.241798773G>T	ENSP00000355511:p.Thr99Lys		B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.T99K	ENST00000366553.1	37	c.296	CCDS31073.1	1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.301273	0.01364	.	.	ENSG00000203668	ENST00000366553	T	0.59502	0.26	4.77	-2.35	0.06684	.	1.294060	0.05204	U	0.505455	T	0.31575	0.0801	.	.	.	0.09310	N	1	B	0.20887	0.049	B	0.23716	0.048	T	0.32107	-0.9919	9	0.05525	T	0.97	3.2416	10.0234	0.42057	0.7486:0.0:0.2514:0.0	.	99	P26374	RAE2_HUMAN	K	99	ENSP00000355511:T99K	ENSP00000355511:T99K	T	-	2	0	CHML	239865396	0.000000	0.05858	0.003000	0.11579	0.226000	0.24999	0.043000	0.13971	-0.482000	0.06782	-0.781000	0.03364	ACA	CHML	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort	ENSG00000203668		0.438	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1		0	24	0	G	NM_001821		241798773	-1			no_errors	ENST00000366553	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.008	T	T	241798773	G	T	241798773	3	4	94	1	0	0	0	0	1	0	0	0	3358	1377	48	3	1678	3	CHML	1	241798773	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	5611365	241798773	7451848	25	26940											
MBOAT2	129642	genome.wustl.edu	37	chr2	9008633	9008633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagctgctccattttcGtcataccctctgaaaccaaa	11	10	6	14	2	2	1	1	1	1	0	4	2	3	1	3	0	5	2	3	0	3	3	rs201477086		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:9008633G>A	ENST00000305997.3	-	9	1128	c.930C>T	c.(928-930)gaC>gaT	p.D310D	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	310					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCCATTTTCGTCATACCCTC	0.333																																					Ovarian(194;1699 3813 22401)												0													99	106	103					2																	9008633		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"O-acyltransferase (membrane bound) domain containing 2"	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.930C>T	2.37:g.9008633G>A			A9EDR2|Q8NCE7|Q96KY4	Silent	SNP	pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt	p.D310	ENST00000305997.3	37	c.930	CCDS1660.1	2																																																																																			MBOAT2	-	pfam_MBOAT_fam	ENSG00000143797		0.333	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT2	HGNC	protein_coding	OTTHUMT00000206735.1	-	0	57	0	G	NM_138799		9008633	-1	tier1	rs201477086	no_errors	ENST00000305997	ensembl	human	known	74_37	silent	47.92	25	23	SNP	1.000	A	A	9008633	G	A	9008633	2	1	94	1	0	0	0	0	0	0	0	1	9395	1136	40	1		1	MBOAT2	2	9008633	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		9008633	234190740	26	26941											
COX7A2L	9167	genome.wustl.edu	37	chr2	42578455	42578455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtccggtaaagcatttgGtcaggcaggcctcgtttcag	7	11	14	9	2	2	0	2	0	0	0	4	0	3	0	2	5	1	4	2	5	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:42578455G>T	ENST00000378669.1	-	4	1078	c.249C>A	c.(247-249)gaC>gaA	p.D83E	COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000234301.2_Missense_Mutation_p.D83E			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	83					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						AAAGCATTTGGTCAGGCAGGC	0.473																																																	0													94	80	85					2																	42578455		2203	4300	6503	SO:0001583	missense	0			AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.249C>A	2.37:g.42578455G>T	ENSP00000367938:p.Asp83Glu		Q9P118	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt	p.D83E	ENST00000378669.1	37	c.249	CCDS1808.1	2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.796386	0.90453	.	.	ENSG00000115944	ENST00000378669;ENST00000234301	T;T	0.68331	-0.32;-0.32	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84019	0.5380	H	0.94264	3.515	0.46096	D	0.998863	D	0.71674	0.998	D	0.69479	0.964	D	0.86798	0.1990	10	0.87932	D	0	-6.8798	8.3546	0.32323	0.168:0.0:0.832:0.0	.	83	O14548	COX7R_HUMAN	E	83	ENSP00000367938:D83E;ENSP00000234301:D83E	ENSP00000234301:D83E	D	-	3	2	COX7A2L	42431959	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.055000	0.64282	2.512000	0.84698	0.655000	0.94253	GAC	COX7A2L	-	pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a,pirsf_Cyt_c_oxidase_su7a-rel_mt	ENSG00000115944		0.473	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A2L	HGNC	protein_coding	OTTHUMT00000250466.3		0	69	0	G	NM_004718		42578455	-1			no_errors	ENST00000234301	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	42578455	G	T	42578455	3	4	94	1	0	0	0	0	1	0	0	0	3788	1252	44	3	99	3	COX7A2L	2	42578455	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	33569822	42578455	200620918	27	26942											
THADA	63892	genome.wustl.edu	37	chr2	43732856	43732856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccattctgcctttctttgGttcagatgccaacagtgcct	7	15	7	12	0	3	1	1	0	2	1	4	1	4	1	4	1	4	1	4	1	1	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:43732856G>T	ENST00000405006.4	-	24	3877	c.3526C>A	c.(3526-3528)Cca>Aca	p.P1176T	THADA_ENST00000415080.2_Missense_Mutation_p.P886T|THADA_ENST00000405975.2_Missense_Mutation_p.P1176T|THADA_ENST00000330266.7_Missense_Mutation_p.P886T	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1176										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTTTCTTTGGTTCAGATGCC	0.388																																																	0													90	83	85					2																	43732856		1839	4092	5931	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3526C>A	2.37:g.43732856G>T	ENSP00000385995:p.Pro1176Thr		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.P1176T	ENST00000405006.4	37	c.3526	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.38|16.38	3.107875|3.107875	0.56291|0.56291	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89	5.54|5.54	4.64|4.64	0.57946|0.57946	.|Domain of unknown function DUF2428, death-receptor-like (1);Armadillo-type fold (1);	.|0.115968	.|0.64402	.|D	.|0.000013	T|T	0.62816|0.62816	0.2459|0.2459	M|M	0.81497|0.81497	2.545|2.545	0.47183|0.47183	D|D	0.999345|0.999345	.|D;D;D;P	.|0.69078	.|0.997;0.987;0.99;0.939	.|D;P;P;P	.|0.64144	.|0.922;0.842;0.897;0.549	T|T	0.68194|0.68194	-0.5473|-0.5473	5|10	.|0.66056	.|D	.|0.02	.|.	12.6086|12.6086	0.56538|0.56538	0.084:0.0:0.916:0.0|0.084:0.0:0.916:0.0	.|.	.|886;1177;886;1176	.|Q6YHU6-2;B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;.;THADA_HUMAN	K|T	489|886;1176;1177;886;1176	.|ENSP00000331105:P886T;ENSP00000386088:P1176T;ENSP00000416048:P886T;ENSP00000385995:P1176T	.|ENSP00000331105:P886T	N|P	-|-	3|1	2|0	THADA|THADA	43586360|43586360	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.919000|5.919000	0.70005|0.70005	1.508000|1.508000	0.48769|0.48769	0.650000|0.650000	0.86243|0.86243	AAC|CCA	THADA	-	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	ENSG00000115970		0.388	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	-	0	56	0	G	NM_022065		43732856	-1	tier1	-	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	43732856	G	T	43732856	3	4	94	1	0	0	0	0	1	0	0	0	15887	1261	44	3	2395	3	THADA	2	43732856	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1154401	43732856	199466517	28	26943											
PLEKHH2	130271	genome.wustl.edu	37	chr2	43965591	43965591	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcctgagctgcagaatGaaatttgctgtcagcttatt	11	13	8	9	0	1	3	1	2	0	1	2	3	2	3	1	0	4	4	1	0	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:43965591G>T	ENST00000282406.4	+	20	3165	c.3055G>T	c.(3055-3057)Gaa>Taa	p.E1019*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1019	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGCAGAATGAAATTTGCTG	0.393																																																	0													91	94	93					2																	43965591		2203	4300	6503	SO:0001587	stop_gained	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"Pleckstrin homology (PH) domain containing"	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3055G>T	2.37:g.43965591G>T	ENSP00000282406:p.Glu1019*		Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.E1019*	ENST00000282406.4	37	c.3055	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	43	10.127693	0.99343	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.0299	19.4557	0.94886	0.0:0.0:1.0:0.0	.	.	.	.	X	1019	.	ENSP00000282406:E1019X	E	+	1	0	PLEKHH2	43819095	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.420000	0.97426	2.587000	0.87381	0.561000	0.74099	GAA	PLEKHH2	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000152527		0.393	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0	16	0	G	NM_172069		43965591	1			no_errors	ENST00000282406	ensembl	human	known	74_37	nonsense	9.38	29	3	SNP	1.000	T	T	43965591	G	T	43965591	4	4	94	1	0	0	0	0	0	1	0	0	12116	1291	45	3	3129	3	PLEKHH2	2	43965591	Nonsense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	232735	43965591	199233782	29	26944											
KLRAQ1	129285	genome.wustl.edu	37	chr2	48685277	48685279	+	In_Frame_Del	DEL	TCT	TCT	-																															tccatcagaaaagtggagaaTcttcttctcagttgagtcaa																										TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:48685277_48685279delTCT	ENST00000294952.8	+	4	443_445	c.286_288delTCT	c.(286-288)tctdel	p.S98del	PPP1R21_ENST00000449090.2_In_Frame_Del_p.S98del|PPP1R21_ENST00000281394.4_In_Frame_Del_p.S98del	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	98						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						AAGTGGAGAATCTTCTTCTCAGT	0.365																																																	0									,,	15,4251		7,1,2125					,,	-1.4	1			119	14,8240		7,0,4120	no	coding,coding,coding	KLRAQ1	NM_152994.4,NM_001193475.1,NM_001135629.2	,,	14,1,6245	A1A1,A1R,RR		0.1696,0.3516,0.2316	,,	,,		29,12491				SO:0001651	inframe_deletion	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	30595	protein-coding gene	gene with protein product			"coiled-coil domain containing 128", "KLRAQ motif containing 1"	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.286_288delTCT	2.37:g.48685283_48685285delTCT	ENSP00000294952:p.Ser98del		B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	In_Frame_Del	DEL	pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF	p.S98in_frame_del	ENST00000294952.8	37	c.286_288	CCDS46278.1	2																																																																																			PPP1R21	-	pfam_Unchr_KLRAQ/TTKRSYEDQ_N	ENSG00000162869		0.365	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4		0	24	0	TCT	NM_152994		48685279	1	tier1		no_errors	ENST00000294952	ensembl	human	known	74_37	in_frame_del	22.73	17	5	DEL	1.000:1.000:1.000	-	-	48685279	TCT	-	48685277	7	5	94	1	0	1	0	1	0	0	0	0	8440	1435	50	0	300	0	KLRAQ1	2	48685277	In_Frame_Del	DEL	TCT	TCGA-L5-A8NV-01A-11D-A37C-09	4719686	48685277	194514096	30	26945											
FSHR	2492	genome.wustl.edu	37	chr2	49190735	49190735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtagattccaatgcagaGatcagcaaaggccaggttgc	13	7	12	9	0	1	2	1	0	0	2	2	3	2	2	2	3	3	4	2	3	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:49190735G>T	ENST00000406846.2	-	10	1344	c.1225C>A	c.(1225-1227)Ctc>Atc	p.L409I	FSHR_ENST00000346173.3_Missense_Mutation_p.L347I|FSHR_ENST00000304421.4_Missense_Mutation_p.L383I|FSHR_ENST00000541117.1_Missense_Mutation_p.L145I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	409					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CCAATGCAGAGATCAGCAAAG	0.478									Gonadal Dysgenesis, 46 XX																																								0													141	136	138					2																	49190735		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"GPCR / Class A : Gonadotropin and TSH receptors"	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1225C>A	2.37:g.49190735G>T	ENSP00000384708:p.Leu409Ile		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.L409I	ENST00000406846.2	37	c.1225	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398708	0.42512	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.38	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.129861	0.53938	D	0.000053	T	0.59636	0.2208	M	0.90309	3.105	0.58432	D	0.999999	P;P;P	0.42584	0.784;0.743;0.784	P;B;P	0.47864	0.559;0.423;0.559	T	0.60105	-0.7328	9	.	.	.	.	8.0813	0.30746	0.3342:0.0:0.6658:0.0	.	383;347;409	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	I	409;347;383;145	ENSP00000384708:L409I;ENSP00000333908:L347I;ENSP00000306780:L383I;ENSP00000444172:L145I	.	L	-	1	0	FSHR	49044239	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.478000	0.53158	0.316000	0.23135	0.655000	0.94253	CTC	FSHR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000170820		0.478	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2		0	32	0	G			49190735	-1			no_errors	ENST00000406846	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	49190735	G	T	49190735	3	4	94	1	0	0	0	0	1	0	0	0	6097	942	33	3	866	3	FSHR	2	49190735	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	505458	49190735	194008638	31	26946											
NRXN1	9378	genome.wustl.edu	37	chr2	50149340	50149340	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctggactcccggatcacTtctgctgagcctggatacgg	6	10	12	13	2	2	1	1	1	1	0	3	4	3	4	2	4	4	2	2	4	1	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:50149340T>G	ENST00000406316.2	-	22	5652	c.4176A>C	c.(4174-4176)gaA>gaC	p.E1392D	NRXN1_ENST00000402717.3_Missense_Mutation_p.E1414D|NRXN1_ENST00000404971.1_Missense_Mutation_p.E1462D|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1422D|NRXN1_ENST00000401710.1_Missense_Mutation_p.E410D|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1392D|NRXN1_ENST00000342183.5_Missense_Mutation_p.E357D|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1414D	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1392					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCGGATCACTTCTGCTGAGC	0.532																																																	0													64	54	58					2																	50149340		2203	4300	6503	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4176A>C	2.37:g.50149340T>G	ENSP00000384311:p.Glu1392Asp		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1414D	ENST00000406316.2	37	c.4242	CCDS54360.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	17.74|17.74|17.74	3.463667|3.463667|3.463667	0.63513|0.63513|0.63513	.|.|.	.|.|.	ENSG00000179915|ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000412315|ENST00000378262	T;T;T;T;T;T;T;T|.|.	0.72615|.|.	0.81;2.06;0.04;0.02;-0.67;-0.56;-0.26;-0.11|.|.	5.95|5.95|5.95	0.32|0.32|0.32	0.15878|0.15878|0.15878	.|.|.	0.244914|.|.	0.22086|.|.	U|.|.	0.064829|.|.	T|T|T	0.54951|0.54951|0.54951	0.1890|0.1890|0.1890	M|M|M	0.76574|0.76574|0.76574	2.34|2.34|2.34	0.29993|0.29993|0.29993	N|N|N	0.816668|0.816668|0.816668	P;D;P;D;D;P|.|.	0.69078|.|.	0.862;0.997;0.937;0.996;0.996;0.892|.|.	P;D;D;D;D;P|.|.	0.77004|.|.	0.627;0.942;0.935;0.987;0.989;0.797|.|.	T|T|T	0.56098|0.56098|0.56098	-0.8035|-0.8035|-0.8035	10|5|5	0.52906|.|.	T|.|.	0.07|.|.	.|.|.	10.1441|10.1441|10.1441	0.42753|0.42753|0.42753	0.0:0.5209:0.0:0.4791|0.0:0.5209:0.0:0.4791|0.0:0.5209:0.0:0.4791	.|.|.	57;1462;357;1392;1411;54|.|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.|.	.;.;NRX1B_HUMAN;.;.;.|.|.	D|T|R	357;311;410;1462;1392;1414;1422;1463;1414;1392|125|59	ENSP00000341184:E357D;ENSP00000385580:E410D;ENSP00000385142:E1462D;ENSP00000384311:E1392D;ENSP00000434015:E1414D;ENSP00000385017:E1422D;ENSP00000385434:E1414D;ENSP00000385681:E1392D|.|.	ENSP00000341184:E357D|.|.	E|K|S	-|-|-	3|2|1	2|0|0	NRXN1|NRXN1|NRXN1	50002844|50002844|50002844	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.996000|0.996000|0.996000	0.52242|0.52242|0.52242	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	1.245000|1.245000|1.245000	0.32790|0.32790|0.32790	0.040000|0.040000|0.040000	0.15660|0.15660|0.15660	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GAA|AAG|AGT	NRXN1	-	NULL	ENSG00000179915		0.532	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	41	0	T			50149340	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	23.08	30	9	SNP	1.000	G	G	50149340	T	G	50149340	3	3	94	1	0	0	0	0	1	0	0	0	10704	1606	56	4	261	4	NRXN1	2	50149340	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	958605	50149340	193050033	32	26947											
USP39	10713	genome.wustl.edu	37	chr2	85875088	85875088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgaattacaagacctccaGgtgactgacatccttcccca	12	10	6	13	0	0	4	0	3	0	1	3	4	3	4	5	1	1	0	5	1	4	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:85875088G>A	ENST00000323701.6	+	12	1609	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	USP39_ENST00000409470.1_Silent_p.Q533Q|USP39_ENST00000450066.2_Silent_p.Q430Q|USP39_ENST00000409766.3_Missense_Mutation_p.R488K|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Intron	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	533	USP.				cell cycle (GO:0007049)|cell division (GO:0051301)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|ubiquitin-dependent protein catabolic process (GO:0006511)	spliceosomal complex (GO:0005681)	ubiquitinyl hydrolase activity (GO:0036459)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AAGACCTCCAGGTGACTGACA	0.498																																																	0													103	95	98					2																	85875088		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132955	CCDS33234.1, CCDS58716.1, CCDS58717.1, CCDS74534.1	2p11.2	2009-01-06	2005-08-08		ENSG00000168883	ENSG00000168883		"Ubiquitin-specific peptidases"	20071	protein-coding gene	gene with protein product	"snRNP assembly defective 1 homolog (S.cerevisiae)", "small nuclear ribonucleoprotein 65kDa (U4/U6.U5)"	611594	"ubiquitin specific protease 39"			12838346	Standard	NM_006590		Approved	SAD1, CGI-21, SNRNP65	uc002sqg.4	Q53GS9	OTTHUMG00000153090	ENST00000323701.6:c.1599G>A	2.37:g.85875088G>A			A8K086|B3KM40|B4DHT4|D6W5L4|G5E9H0|Q6NX47|Q96RK9|Q9BV89|Q9H381|Q9P050|Q9Y310	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.R488K	ENST00000323701.6	37	c.1463	CCDS33234.1	2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650781	0.67472	.	.	ENSG00000168883	ENST00000409766	T	0.17054	2.3	5.93	2.14	0.27477	.	.	.	.	.	T	0.14874	0.0359	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05194	-1.0900	8	0.87932	D	0	-26.9996	9.4033	0.38447	0.2996:0.0:0.7004:0.0	.	488	G5E9H0	.	K	488	ENSP00000386803:R488K	ENSP00000386803:R488K	R	+	2	0	USP39	85728599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.621000	0.46418	0.415000	0.25817	-0.140000	0.14226	AGG	USP39	-	pfscan_Peptidase_C19/C67	ENSG00000168883		0.498	USP39-009	NOVEL	basic|appris_principal|CCDS	protein_coding	USP39	HGNC	protein_coding	OTTHUMT00000329892.1	-	0	43	0	G	NM_006590		85875088	1	tier1	-	no_errors	ENST00000409766	ensembl	human	novel	74_37	missense	32.76	39	19	SNP	1.000	A	A	85875088	G	A	85875088	2	1	94	1	0	0	0	0	0	0	0	1	17119	991	35	3		3	USP39	2	85875088	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	35725748	85875088	157324285	33	26948											
SMYD1	150572	genome.wustl.edu	37	chr2	88387576	88387576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttcagcatgcagtacatCtcgcacatcttcggagtggt	9	11	10	11	2	3	0	1	0	2	0	5	1	3	1	0	2	3	5	0	2	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:88387576C>T	ENST00000419482.2	+	3	595	c.510C>T	c.(508-510)atC>atT	p.I170I	SMYD1_ENST00000444564.2_Silent_p.I170I|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	170	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCAGTACATCTCGCACATCT	0.607																																																	0													111	71	85					2																	88387576		2203	4300	6503	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.510C>T	2.37:g.88387576C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.I170	ENST00000419482.2	37	c.510	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.607	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2		0	76	0	C	XM_097915		88387576	1			no_errors	ENST00000419482	ensembl	human	known	74_37	silent	5.63	67	4	SNP	1.000	T	T	88387576	C	T	88387576	2	4	94	1	0	0	0	0	0	0	0	1	14866	903	32	3		3	SMYD1	2	88387576	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	2512488	88387576	154811797	34	26949											
BUB1	699	genome.wustl.edu	37	chr2	111419341	111419341	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatgttcactggtgtctgCtgataggttactggaagaca	9	13	11	8	0	2	2	1	1	1	1	3	3	3	3	1	3	2	3	1	3	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:111419341C>T	ENST00000302759.6	-	10	1153	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	BUB1_ENST00000535254.1_Silent_p.Q325Q|BUB1_ENST00000409311.1_Silent_p.Q345Q	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	345					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTGGTGTCTGCTGATAGGTTA	0.488																																																	0													146	138	141					2																	111419341		2203	4300	6503	SO:0001819	synonymous_variant	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1035G>A	2.37:g.111419341C>T			E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.Q345	ENST00000302759.6	37	c.1035	CCDS33273.1	2																																																																																			BUB1	-	NULL	ENSG00000169679		0.488	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	-	0	35	0	C	NM_004336		111419341	-1	tier1	-	no_errors	ENST00000302759	ensembl	human	known	74_37	silent	12.12	29	4	SNP	0.012	T	T	111419341	C	T	111419341	2	4	94	1	0	0	0	0	0	0	0	1	1574	796	28	3		3	BUB1	2	111419341	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	23031765	111419341	131780032	35	26950											
MCM6	4175	genome.wustl.edu	37	chr2	136616981	136616981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacgctttaccactggtgtAgacagctctggggctgaact	8	10	13	10	1	1	2	0	1	1	1	1	3	1	3	1	4	3	4	1	4	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:136616981A>G	ENST00000264156.2	-	9	1312	c.1252T>C	c.(1252-1254)Tac>Cac	p.Y418H	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	418	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CCACTGGTGTAGACAGCTCTG	0.468																																					Ovarian(196;141 2104 8848 24991 25939)												0													89	80	83					2																	136616981		2203	4300	6503	SO:0001583	missense	0				CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"MIS5 homolog (S.pombe)"	601806	"minichromosome maintenance deficient (mis5, S. pombe) 6", "MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)", "minichromosome maintenance deficient 6 homolog (S. cerevisiae)"				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1252T>C	2.37:g.136616981A>G	ENSP00000264156:p.Tyr418His		B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase	p.Y418H	ENST00000264156.2	37	c.1252	CCDS2179.1	2	.	.	.	.	.	.	.	.	.	.	A	29.7	5.028949	0.93518	.	.	ENSG00000076003	ENST00000264156	T	0.10382	2.88	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65487	-0.6156	10	0.87932	D	0	-11.4199	16.2874	0.82727	1.0:0.0:0.0:0.0	.	418	Q14566	MCM6_HUMAN	H	418	ENSP00000264156:Y418H	ENSP00000264156:Y418H	Y	-	1	0	MCM6	136333451	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.761000	0.91691	2.235000	0.73313	0.533000	0.62120	TAC	MCM6	-	pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000076003		0.468	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM6	HGNC	protein_coding	OTTHUMT00000254658.1	-	0	61	0	A	NM_005915		136616981	-1	tier1	-	no_errors	ENST00000264156	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	G	G	136616981	A	G	136616981	3	3	94	1	0	0	0	0	1	0	0	0	9429	420	15	4	1249	4	MCM6	2	136616981	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	25197640	136616981	106582392	36	26951											
RND3	390	genome.wustl.edu	37	chr2	151331459	151331459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcacagcatccgaatcaGggtaagagagggggcggaca	13	4	15	9	2	2	1	2	0	0	1	3	4	3	2	1	4	2	3	1	4	2	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:151331459G>T	ENST00000375734.2	-	3	527	c.278C>A	c.(277-279)cCt>cAt	p.P93H	RND3_ENST00000263895.4_Missense_Mutation_p.P93H|RND3_ENST00000409557.1_De_novo_Start_OutOfFrame|RND3_ENST00000472416.1_5'UTR	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	93					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		ATCCGAATCAGGGTAAGAGAG	0.458																																																	0													93	91	92					2																	151331459		2203	4300	6503	SO:0001583	missense	0				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"ras homolog gene family, member E"	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.278C>A	2.37:g.151331459G>T	ENSP00000364886:p.Pro93His		D3DP95|P52199	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P93H	ENST00000375734.2	37	c.278	CCDS2190.1	2	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043018	0.93685	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000439275;ENST00000454202	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	6.02	6.02	0.97574	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.80764	0.953;0.994;0.992	D	0.85766	0.1352	10	0.87932	D	0	-24.8673	19.5289	0.95219	0.0:0.0:1.0:0.0	.	93;93;93	B2R838;D3DP96;P61587	.;.;RND3_HUMAN	H	93	ENSP00000364886:P93H;ENSP00000263895:P93H;ENSP00000395997:P93H;ENSP00000411950:P93H	ENSP00000263895:P93H	P	-	2	0	RND3	151039705	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	CCT	RND3	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000115963		0.458	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RND3	HGNC	protein_coding	OTTHUMT00000254809.1	-	0	64	0	G	NM_005168		151331459	-1	tier1	-	no_errors	ENST00000263895	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	151331459	G	T	151331459	3	4	94	1	0	0	0	0	1	0	0	0	13466	1000	35	3	468	3	RND3	2	151331459	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	14714478	151331459	91867914	37	26952											
LY75	4065	genome.wustl.edu	37	chr2	160661723	160661723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actatgatagctattgctgtGtaatcagggcctggaacagg	11	11	12	7	0	1	1	1	1	0	0	1	2	1	2	1	3	3	3	1	3	5	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:160661723G>A	ENST00000263636.4	-	35	5028	c.5001C>T	c.(4999-5001)taC>taT	p.Y1667Y	LY75-CD302_ENST00000504764.1_Intron|LY75-CD302_ENST00000505052.1_Intron|LY75_ENST00000554112.1_Intron|LY75_ENST00000553424.1_Intron	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1667					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CTATTGCTGTGTAATCAGGGC	0.423																																																	0													94	86	88					2																	160661723		2203	4300	6503	SO:0001819	synonymous_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"CD molecules", "C-type lectin domain containing"	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.5001C>T	2.37:g.160661723G>A			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.Y1667	ENST00000263636.4	37	c.5001	CCDS2211.1	2																																																																																			LY75	-	NULL	ENSG00000054219		0.423	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1		0	57	0	G			160661723	-1			no_errors	ENST00000263636	ensembl	human	known	74_37	silent	5.77	49	3	SNP	1.000	A	A	160661723	G	A	160661723	2	1	94	1	0	0	0	0	0	0	0	1	9135	1372	48	3		3	LY75	2	160661723	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	9330264	160661723	82537650	38	26953											
GALNT3	2591	genome.wustl.edu	37	chr2	166605343	166605343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggatctgatgggttgcatGacactaaacttggatgctct	9	13	12	7	0	2	2	0	2	2	0	2	4	2	4	0	3	3	3	0	3	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:166605343G>A	ENST00000392701.3	-	11	2625	c.1850C>T	c.(1849-1851)tCa>tTa	p.S617L	GALNT3_ENST00000409882.1_Missense_Mutation_p.S355L	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	617	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TGGGTTGCATGACACTAAACT	0.318																																																	0													92	89	90					2																	166605343		2203	4299	6502	SO:0001583	missense	0				CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4125	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 3"	601756	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1850C>T	2.37:g.166605343G>A	ENSP00000376465:p.Ser617Leu		Q53TG9|Q7Z476	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S617L	ENST00000392701.3	37	c.1850	CCDS2226.1	2	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708561	0.30322	.	.	ENSG00000115339	ENST00000392701;ENST00000409882	T;T	0.77620	-1.11;-1.11	5.86	4.04	0.47022	Ricin B-related lectin (1);Ricin B lectin (3);	0.795303	0.11868	N	0.521693	T	0.74176	0.3682	M	0.67397	2.05	0.26272	N	0.978401	B	0.02656	0.0	B	0.08055	0.003	T	0.62964	-0.6742	10	0.39692	T	0.17	.	8.7633	0.34687	0.068:0.0:0.6633:0.2686	.	617	Q14435	GALT3_HUMAN	L	617;355	ENSP00000376465:S617L;ENSP00000386955:S355L	ENSP00000376465:S617L	S	-	2	0	GALNT3	166313589	0.998000	0.40836	0.996000	0.52242	0.896000	0.52359	2.295000	0.43576	0.793000	0.33875	0.563000	0.77884	TCA	GALNT3	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000115339		0.318	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT3	HGNC	protein_coding	OTTHUMT00000255205.2	-	0	35	0	G	NM_004482		166605343	-1	tier1	-	no_errors	ENST00000392701	ensembl	human	known	74_37	missense	58.97	16	23	SNP	0.963	A	A	166605343	G	A	166605343	3	1	94	1	0	0	0	0	1	0	0	0	6239	1294	45	3	55	3	GALNT3	2	166605343	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	5943620	166605343	76594030	39	26954											
LRP2	4036	genome.wustl.edu	37	chr2	170177381	170177381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacttccacagcgaaaatgCgcactgtcacattctgcaat	12	9	6	14	2	2	0	1	0	1	0	3	1	3	0	2	0	3	2	2	0	3	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:170177381C>T	ENST00000263816.3	-	2	378	c.93G>A	c.(91-93)gcG>gcA	p.A31A	LRP2_ENST00000443831.1_Silent_p.A31A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	31	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A31A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGCGAAAATGCGCACTGTCAC	0.388																																																	1	Substitution - coding silent(1)	breast(1)											113	96	102					2																	170177381		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.93G>A	2.37:g.170177381C>T			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A31	ENST00000263816.3	37	c.93	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.388	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	69	0	C	NM_004525		170177381	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.000	T	T	170177381	C	T	170177381	2	4	94	1	0	0	0	0	0	0	0	1	8991	755	27	1		1	LRP2	2	170177381	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	3572038	170177381	73021992	40	26955											
TTN	7273	genome.wustl.edu	37	chr2	179418788	179418788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacggatagtctcttttaGtactttaaaccatcctaggc	10	14	7	10	1	2	0	1	0	1	0	4	1	3	1	2	2	2	1	2	2	6	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:179418788G>A	ENST00000591111.1	-	283	84351	c.84127C>T	c.(84127-84129)Cta>Tta	p.L28043L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.L20811L|TTN_ENST00000359218.5_Silent_p.L20744L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.L29684L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.L27116L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.L20619L|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28043	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTCTTTTAGTACTTTAAAC	0.433																																																	0													198	194	195					2																	179418788		1885	4112	5997	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84127C>T	2.37:g.179418788G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L27116	ENST00000591111.1	37	c.81346		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	20	0	G	NM_133378		179418788	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	50.00	14	14	SNP	0.001	A	A	179418788	G	A	179418788	2	1	94	1	0	0	0	0	0	0	0	1	16784	1020	36	3		3	TTN	2	179418788	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	9241407	179418788	63780585	41	26956											
FSIP2	401024	genome.wustl.edu	37	chr2	186666039	186666039	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaaacatcactgtgtcctgGctcaatgagatgaatacatt	15	11	7	8	0	2	2	2	2	0	1	3	3	3	2	1	1	2	1	1	1	5	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:186666039G>A	ENST00000424728.1	+	17	12006	c.12006G>A	c.(12004-12006)tgG>tgA	p.W4002*	AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Nonsense_Mutation_p.W4091*|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4002										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTGTGTCCTGGCTCAATGAGA	0.338																																																	0																																										SO:0001587	stop_gained	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.12006G>A	2.37:g.186666039G>A	ENSP00000401306:p.Trp4002*		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Nonsense_Mutation	SNP	NULL	p.W4091*	ENST00000424728.1	37	c.12273		2	.	.	.	.	.	.	.	.	.	.	G	50	17.149531	0.99880	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	.	.	.	5.23	0.0359	0.14189	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	3.2637	0.06858	0.0808:0.2772:0.3573:0.2848	.	.	.	.	X	4091;4002	.	ENSP00000344403:W4091X	W	+	3	0	FSIP2	186374284	0.116000	0.22171	0.043000	0.18650	0.060000	0.15804	-0.175000	0.09825	-0.174000	0.10743	-0.310000	0.09108	TGG	FSIP2	-	NULL	ENSG00000188738		0.338	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0	51	0	G	NM_173651		186666039	1			no_errors	ENST00000343098	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.070	A	A	186666039	G	A	186666039	4	1	94	1	0	0	0	0	0	1	0	0	6099	1212	42	3	12339	3	FSIP2	2	186666039	Nonsense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	7247251	186666039	56533334	42	26957											
ZC3H15	55854	genome.wustl.edu	37	chr2	187359986	187359986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcggtttgaagaataaGaaaggagcaaagcaacagaa	19	7	10	5	1	0	4	0	1	0	3	1	5	0	5	0	2	3	3	0	2	7	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:187359986G>T	ENST00000337859.6	+	2	329	c.102G>T	c.(100-102)aaG>aaT	p.K34N	ZC3H15_ENST00000468120.1_3'UTR|ZC3H15_ENST00000544130.1_5'UTR|AC018867.1_ENST00000396985.1_5'Flank	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	34					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGAAGAATAAGAAAGGAGCAA	0.323																																																	0													67	63	64					2																	187359986		1831	4082	5913	SO:0001583	missense	0				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"Zinc fingers, CCCH-type domain containing"	29528	protein-coding gene	gene with protein product	"likely ortholog of mouse immediate early response, erythropoietin 4"					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.102G>T	2.37:g.187359986G>T	ENSP00000338788:p.Lys34Asn		B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K34N	ENST00000337859.6	37	c.102	CCDS42791.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293731	0.80914	.	.	ENSG00000065548	ENST00000337859;ENST00000536434	T	0.65178	-0.14	5.91	3.13	0.36017	.	0.000000	0.85682	D	0.000000	T	0.76579	0.4007	M	0.87456	2.885	0.80722	D	1	D	0.59767	0.986	P	0.62435	0.902	T	0.76410	-0.2969	10	0.87932	D	0	-9.8668	8.2451	0.31684	0.1915:0.1137:0.6948:0.0	.	34	Q8WU90	ZC3HF_HUMAN	N	34	ENSP00000338788:K34N	ENSP00000338788:K34N	K	+	3	2	ZC3H15	187068231	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.419000	0.44671	0.398000	0.25338	-0.136000	0.14681	AAG	ZC3H15	-	NULL	ENSG00000065548		0.323	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	-	0	42	0	G	NM_018471		187359986	1	tier1	-	no_errors	ENST00000337859	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	187359986	G	T	187359986	3	4	94	1	0	0	0	0	1	0	0	0	17615	933	33	3	108	3	ZC3H15	2	187359986	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	693947	187359986	55839387	43	26958											
MFSD6	54842	genome.wustl.edu	37	chr2	191300945	191300945	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaacattgtgttaagAtaaacaacgatcttctaatt	17	13	6	5	1	2	2	0	0	2	2	2	4	2	2	0	0	3	1	0	0	7	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:191300945A>T	ENST00000392328.1	+	3	514	c.190A>T	c.(190-192)Ata>Tta	p.I64L	MFSD6_ENST00000281416.7_Missense_Mutation_p.I64L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	64					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTGTGTTAAGATAAACAACGA	0.408																																																	0													97	101	100					2																	191300945		2203	4300	6503	SO:0001583	missense	0				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.190A>T	2.37:g.191300945A>T	ENSP00000376141:p.Ile64Leu		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.I64L	ENST00000392328.1	37	c.190	CCDS2306.1	2	.	.	.	.	.	.	.	.	.	.	A	12.19	1.864417	0.32977	.	.	ENSG00000151690	ENST00000432036;ENST00000392328;ENST00000445546;ENST00000281416	T;T	0.36157	1.27;1.27	5.49	3.02	0.34903	Major facilitator superfamily domain, general substrate transporter (1);	0.184901	0.56097	D	0.000040	T	0.21962	0.0529	N	0.19112	0.55	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.04103	-1.0977	10	0.46703	T	0.11	-16.5622	8.1166	0.30946	0.7943:0.135:0.0707:0.0	.	64	Q6ZSS7	MFSD6_HUMAN	L	64	ENSP00000376141:I64L;ENSP00000281416:I64L	ENSP00000281416:I64L	I	+	1	0	MFSD6	191009190	0.996000	0.38824	0.442000	0.26870	0.882000	0.50991	1.532000	0.36029	0.466000	0.27193	0.528000	0.53228	ATA	MFSD6	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000151690		0.408	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1	-	0	27	0	A			191300945	1	tier1	-	no_errors	ENST00000281416	ensembl	human	known	74_37	missense	55.88	15	19	SNP	0.852	T	T	191300945	A	T	191300945	3	4	94	1	0	0	0	0	1	0	0	0	9573	333	12	5	192	5	MFSD6	2	191300945	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	3940959	191300945	51898428	44	26959											
STAT4	6775	genome.wustl.edu	37	chr2	192011340	192011340	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtagaatgcattcttaccTgaaggaccttcctaattctt	12	14	6	9	0	2	2	0	1	2	1	3	3	3	3	3	1	2	2	3	1	6	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:192011340T>C	ENST00000392320.2	-	3	586	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	STAT4_ENST00000409995.1_Splice_Site_p.Q91R|STAT4_ENST00000358470.4_Splice_Site_p.Q91R	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	91					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CATTCTTACCTGAAGGACCTT	0.279																																																	0													70	68	69					2																	192011340		2201	4298	6499	SO:0001630	splice_region_variant	0				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"SH2 domain containing"	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.273+1A>G	2.37:g.192011340T>C			Q96NZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.Q91R	ENST00000392320.2	37	c.272	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178934	0.57692	.	.	ENSG00000138378	ENST00000358470;ENST00000392320;ENST00000413064;ENST00000409995	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.55	5.55	0.83447	STAT transcription factor, protein interaction (4);	0.182796	0.49305	D	0.000153	T	0.61476	0.2350	L	0.58669	1.825	0.48511	D	0.999669	D;P;P	0.71674	0.998;0.952;0.952	D;P;P	0.65874	0.939;0.698;0.698	T	0.64592	-0.6371	10	0.87932	D	0	-25.3837	11.008	0.47646	0.1389:0.0:0.0:0.8611	.	91;91;91	B4DSY7;B4DV04;Q14765	.;.;STAT4_HUMAN	R	91;91;64;91	ENSP00000351255:Q91R;ENSP00000376134:Q91R;ENSP00000403238:Q64R;ENSP00000386288:Q91R	ENSP00000351255:Q91R	Q	-	2	0	STAT4	191719585	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	4.491000	0.60326	2.326000	0.78906	0.533000	0.62120	CAG	STAT4	-	pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction	ENSG00000138378		0.279	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	-	0	68	0	T	NM_003151	Missense_Mutation	192011340	-1	tier1	-	no_errors	ENST00000358470	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	C	C	192011340	T	C	192011340	5	2	94	1	0	0	0	0	0	0	1	0	15314	1594	55	4	2062	4	STAT4	2	192011340	Splice_Site	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	710395	192011340	51188033	45	26960											
OBSL1	23363	genome.wustl.edu	37	chr2	220432568	220432568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctctggcagatgaccGgcagctcctccccatcacgg	7	7	11	16	2	2	2	1	1	1	1	4	2	4	2	4	3	3	5	4	3	0	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr2:220432568G>A	ENST00000404537.1	-	3	1462	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	OBSL1_ENST00000603926.1_Missense_Mutation_p.P469L|OBSL1_ENST00000289656.3_Missense_Mutation_p.P56L|OBSL1_ENST00000373873.4_Missense_Mutation_p.P469L|OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000265318.4_Missense_Mutation_p.P469L|OBSL1_ENST00000373876.1_Missense_Mutation_p.P469L	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	469					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAGATGACCGGCAGCTCCTC	0.632																																																	0													43	48	46					2																	220432568		2150	4259	6409	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1406C>T	2.37:g.220432568G>A	ENSP00000385636:p.Pro469Leu		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P469L	ENST00000404537.1	37	c.1406	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	G	9.299	1.052491	0.19907	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	4.83	3.94	0.45596	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80449	0.4625	L	0.29908	0.895	0.23492	N	0.997566	D;B;P	0.89917	1.0;0.124;0.642	D;B;B	0.91635	0.999;0.013;0.087	T	0.68014	-0.5521	9	0.49607	T	0.09	.	3.1736	0.06561	0.1469:0.1488:0.5511:0.1533	.	469;56;469	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	L	469;469;469;469;56	ENSP00000265318:P469L;ENSP00000385636:P469L;ENSP00000362983:P469L;ENSP00000362980:P469L;ENSP00000289656:P56L	ENSP00000265318:P469L	P	-	2	0	OBSL1	220140812	0.006000	0.16342	0.952000	0.39060	0.124000	0.20399	0.326000	0.19646	2.235000	0.73313	0.484000	0.47621	CCG	OBSL1	-	smart_Ig_sub	ENSG00000124006		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0	62	0	G			220432568	-1	tier1	-	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	57.97	29	40	SNP	0.047	A	A	220432568	G	A	220432568	3	1	94	1	0	0	0	0	1	0	0	0	10852	1116	39	1	4512	1	OBSL1	2	220432568	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	28421228	220432568	22766805	46	26961											
SLC6A6	6533	genome.wustl.edu	37	chr3	14508095	14508095	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagggctgacgctgccGggcgcgggcgcaggcatcaa	6	4	18	13	6	1	1	1	1	0	0	2	2	2	1	2	4	1	4	2	4	1	0	rs561563380	byFrequency	TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:14508095G>T	ENST00000454876.2	+	7	1133	c.804G>T	c.(802-804)ccG>ccT	p.P268P	SLC6A6_ENST00000360861.3_Silent_p.P268P			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	268					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGACGCTGCCGGGCGCGGGCG	0.617																																																	0													87	74	78					3																	14508095		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"Solute carriers"	11052	protein-coding gene	gene with protein product	"taurine transporter"	186854	"solute carrier family 6 (neurotransmitter transporter, taurine), member 6"			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.804G>T	3.37:g.14508095G>T			B2RNU7|Q9BRI2|Q9BXB0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.P268	ENST00000454876.2	37	c.804	CCDS33705.1	3																																																																																			SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000131389		0.617	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	-	0	24	0	G	NM_003043		14508095	1	tier1	-	no_errors	ENST00000360861	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.820	T	T	14508095	G	T	14508095	2	4	94	1	0	0	0	0	0	0	0	1	14733	1103	39	2		2	SLC6A6	3	14508095	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		14508095	183514335	47	26962											
SLC4A7	9497	genome.wustl.edu	37	chr3	27463270	27463270	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcatgaaattcatatcaaCctattgacaaataaataatt	18	14	2	7	0	3	2	3	2	1	0	4	2	3	2	1	0	1	0	1	0	8	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:27463270C>G	ENST00000295736.5	-	9	1310	c.1240G>C	c.(1240-1242)Gtt>Ctt	p.V414L	SLC4A7_ENST00000446700.1_Splice_Site_p.V406L|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000425128.2_Splice_Site_p.V406L|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000440156.1_Splice_Site_p.V410L|SLC4A7_ENST00000455077.1_Splice_Site_p.V295L|SLC4A7_ENST00000445684.1_Splice_Site_p.V410L|SLC4A7_ENST00000437179.1_Splice_Site_p.V295L|SLC4A7_ENST00000454389.1_Splice_Site_p.V423L|SLC4A7_ENST00000435667.2_Splice_Site_p.V299L|SLC4A7_ENST00000428386.1_Splice_Site_p.V290L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	414					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TTCATATCAACCTATTGACaa	0.348																																																	0													44	47	46					3																	27463270		2203	4300	6503	SO:0001630	splice_region_variant	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"Solute carriers"	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1240-1G>C	3.37:g.27463270C>G			A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.V423L	ENST00000295736.5	37	c.1267	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964342	0.74131	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.55	5.55	0.83447	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	N	0.17901	0.54	0.58432	D	0.99999	B;B;B;P;B;B;B;B	0.51537	0.193;0.01;0.096;0.946;0.193;0.008;0.193;0.01	B;B;B;P;B;B;B;B	0.62298	0.147;0.044;0.147;0.9;0.147;0.026;0.147;0.044	T	0.69624	-0.5095	10	0.05959	T	0.93	.	19.5162	0.95167	0.0:1.0:0.0:0.0	.	410;295;406;410;423;290;414;295	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;S4A7_HUMAN;.	L	414;290;423;410;295;406;295;410;299;406;310	ENSP00000295736:V414L;ENSP00000416368:V290L;ENSP00000390394:V423L;ENSP00000414797:V410L;ENSP00000394252:V295L;ENSP00000406605:V406L;ENSP00000407382:V295L;ENSP00000406804:V410L;ENSP00000395336:V299L;ENSP00000401949:V406L;ENSP00000388703:V310L	ENSP00000295736:V414L	V	-	1	0	SLC4A7	27438274	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.003000	0.70701	2.621000	0.88768	0.655000	0.94253	GTT	SLC4A7	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.348	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2		0	24	0	C	NM_003615	Missense_Mutation	27463270	-1			no_errors	ENST00000454389	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	G	G	27463270	C	G	27463270	5	3	94	1	0	0	0	0	0	0	1	0	14703	521	18	5	2472	5	SLC4A7	3	27463270	Splice_Site	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	12955175	27463270	170559160	48	26963											
STT3B	201595	genome.wustl.edu	37	chr3	31656660	31656660	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccttttgtgggattccAgccaatcagaacaagtgaac	13	10	9	9	0	1	2	1	1	0	1	2	4	2	3	3	1	4	0	3	1	5	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:31656660A>G	ENST00000295770.2	+	6	1150	c.941A>G	c.(940-942)cAg>cGg	p.Q314R	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	314					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GTGGGATTCCAGCCAATCAGA	0.348																																																	0													103	97	99					3																	31656660		2203	4299	6502	SO:0001583	missense	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.941A>G	3.37:g.31656660A>G	ENSP00000295770:p.Gln314Arg		Q96JZ4|Q96KY7	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.Q314R	ENST00000295770.2	37	c.941	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	A	25.8	4.676118	0.88445	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.83901	0.0290	9	0.30078	T	0.28	-8.6658	15.4568	0.75321	1.0:0.0:0.0:0.0	.	314	Q8TCJ2	STT3B_HUMAN	R	314	.	ENSP00000295770:Q314R	Q	+	2	0	STT3B	31631664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.063000	0.61619	0.454000	0.30748	CAG	STT3B	-	pfam_Oligo_trans_STT3	ENSG00000163527		0.348	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0	37	0	A	NM_178862		31656660	1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	G	G	31656660	A	G	31656660	3	3	94	1	0	0	0	0	1	0	0	0	15381	188	7	4	963	4	STT3B	3	31656660	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	4193390	31656660	166365770	49	26964											
SLC22A13	9390	genome.wustl.edu	37	chr3	38316550	38316550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtgcaacttctccctcggGcagatggtgcttgcgggact	6	10	13	12	2	1	1	0	0	1	1	3	2	1	2	1	3	4	3	1	3	1	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:38316550G>A	ENST00000311856.4	+	4	757	c.708G>A	c.(706-708)ggG>ggA	p.G236G	SLC22A13_ENST00000450935.2_Missense_Mutation_p.A144T	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	236					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.G236G(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TCTCCCTCGGGCAGATGGTGC	0.607																																																	2	Substitution - coding silent(2)	lung(2)											130	125	127					3																	38316550		2203	4300	6503	SO:0001819	synonymous_variant	0			AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"Solute carriers"	8494	protein-coding gene	gene with protein product		604047	"organic cationic transporter-like 3", "solute carrier family 22 (organic anion transporter), member 13"	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.708G>A	3.37:g.38316550G>A			B2RCV9|Q8IYG1	Missense_Mutation	SNP	NULL	p.A144T	ENST00000311856.4	37	c.430	CCDS2676.1	3	.	.	.	.	.	.	.	.	.	.	G	2.467	-0.322789	0.05350	.	.	ENSG00000172940	ENST00000450935	T	0.51574	0.7	4.84	-1.91	0.07641	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.19575	N	0.999961	.	.	.	.	.	.	T	0.26538	-1.0100	6	0.21540	T	0.41	.	4.313	0.10979	0.4817:0.0:0.2379:0.2804	.	.	.	.	T	144	ENSP00000406929:A144T	ENSP00000395106:A170T	A	+	1	0	SLC22A13	38291554	0.000000	0.05858	0.032000	0.17829	0.073000	0.16967	-1.791000	0.01758	-0.288000	0.09051	0.655000	0.94253	GCA	SLC22A13	-	NULL	ENSG00000172940		0.607	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A13	HGNC	protein_coding	OTTHUMT00000253746.2		0	50	0	G	NM_004256		38316550	1			no_errors	ENST00000450935	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.435	A	A	38316550	G	A	38316550	2	1	94	1	0	0	0	0	0	0	0	1	14489	1190	42	3		3	SLC22A13	3	38316550	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	6659890	38316550	159705880	50	26965											
C3orf63	23272	genome.wustl.edu	37	chr3	56707745	56707745	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcctggagttaatggctGgaaaagtgctaaaataaaaa	18	8	11	4	0	0	1	0	0	0	1	0	3	0	3	1	3	2	3	1	3	8	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:56707745G>A	ENST00000493960.2	-	2	350	c.340C>T	c.(340-342)Cag>Tag	p.Q114*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.Q114*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	114							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTTAATGGCTGGAAAAGTGCT	0.289																																																	0													73	63	66					3																	56707745		692	1591	2283	SO:0001587	stop_gained	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.340C>T	3.37:g.56707745G>A	ENSP00000417509:p.Gln114*		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	pfam_DUF3715	p.Q114*	ENST00000493960.2	37	c.340	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.352341	0.98231	.	.	ENSG00000163946	ENST00000493960;ENST00000355628	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-2.9973	19.2467	0.93905	0.0:0.0:1.0:0.0	.	.	.	.	X	114	.	ENSP00000347845:Q114X	Q	-	1	0	C3orf63	56682785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.990000	0.63876	2.557000	0.86248	0.591000	0.81541	CAG	FAM208A	-	NULL	ENSG00000163946		0.289	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0	50	0	G	NM_015224		56707745	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	nonsense	44.44	30	24	SNP	1.000	A	A	56707745	G	A	56707745	4	1	94	1	0	0	0	0	0	1	0	0	2246	1357	47	3	4824	3	C3orf63	3	56707745	Nonsense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	18391195	56707745	141314685	51	26966											
TMPRSS7	344805	genome.wustl.edu	37	chr3	111795914	111795914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagctcattcagccaatatGcattcctcccactggtcaga	11	10	6	14	0	3	1	3	0	0	1	5	1	5	1	3	1	3	2	3	1	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:111795914G>A	ENST00000452346.2	+	16	2150	c.2147G>A	c.(2146-2148)tGc>tAc	p.C716Y	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.C590Y			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	716	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCAATATGCATTCCTCCC	0.488																																																	0													141	129	132					3																	111795914		1943	4149	6092	SO:0001583	missense	0			BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"Serine peptidases / Transmembrane"	30846	protein-coding gene	gene with protein product			"type II transmembrane serine protease 7"			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2147G>A	3.37:g.111795914G>A	ENSP00000398236:p.Cys716Tyr		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.C590Y	ENST00000452346.2	37	c.1769		3	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703603	0.88924	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.66995	-0.24;-0.24	6.11	6.11	0.99139	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92422	0.5946	10	0.87932	D	0	.	19.5057	0.95114	0.0:0.0:1.0:0.0	.	716;590	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	Y	716;704;690;590	ENSP00000398236:C716Y;ENSP00000411645:C590Y	ENSP00000411645:C590Y	C	+	2	0	TMPRSS7	113278604	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.141000	0.94612	2.906000	0.99361	0.655000	0.94253	TGC	TMPRSS7	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000176040		0.488	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	TMPRSS7	HGNC	protein_coding	OTTHUMT00000347592.2	-	0	39	0	G	XM_293599		111795914	1	tier1	-	no_errors	ENST00000419127	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	111795914	G	A	111795914	3	1	94	1	0	0	0	0	1	0	0	0	16299	1319	46	3	1819	3	TMPRSS7	3	111795914	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	55088169	111795914	86226516	52	26967											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119101232	119101232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggccctggtgtgggcGccaaacctcctcaggtaacc	8	7	11	15	1	1	0	1	0	0	0	2	0	2	0	6	4	3	1	6	4	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:119101232G>A	ENST00000264245.4	+	5	1057	c.525G>A	c.(523-525)gcG>gcA	p.A175A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	175	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGGTGTGGGCGCCAAACCTCC	0.557																																					Pancreas(7;176 297 5394 51128 51241)												0													61	71	68					3																	119101232		1942	4142	6084	SO:0001819	synonymous_variant	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.525G>A	3.37:g.119101232G>A			Q9ULL6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A175	ENST00000264245.4	37	c.525	CCDS43135.1	3																																																																																			ARHGAP31	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000031081		0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	-	0	45	0	G			119101232	1	tier1	-	no_errors	ENST00000264245	ensembl	human	known	74_37	silent	20.59	54	14	SNP	0.006	A	A	119101232	G	A	119101232	2	1	94	1	0	0	0	0	0	0	0	1	880	1074	38	1		1	ARHGAP31	3	119101232	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	7305318	119101232	78921198	53	26968											
MYLK	4638	genome.wustl.edu	37	chr3	123375992	123375992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggtttctctcctacCgttgtgagttcagactcctg	5	15	8	13	1	3	2	2	1	1	1	6	2	5	2	4	1	1	3	4	1	1	5	rs574785619		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:123375992C>T	ENST00000475616.1	-	21	4268	c.4269G>A	c.(4267-4269)acG>acA	p.T1423T	MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000360772.3_Silent_p.T1423T			Q15746	MYLK_HUMAN	myosin light chain kinase	1423	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTCCTACCGTTGTGAGTT	0.493													C|||	1	0.000199681	0	0	5008	,	,		22533	0		0	False		,,,				2504	0.001																0													144	134	137					3																	123375992		2203	4300	6503	SO:0001819	synonymous_variant	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4269G>A	3.37:g.123375992C>T			B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T1423	ENST00000475616.1	37	c.4269	CCDS46896.1	3																																																																																			MYLK	-	superfamily_Fibronectin_type3	ENSG00000065534		0.493	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0	63	0	C	NM_053025		123375992	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	silent	35.38	42	23	SNP	0.000	T	T	123375992	C	T	123375992	2	4	94	1	0	0	0	0	0	0	0	1	10094	639	23	1		1	MYLK	3	123375992	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	4274760	123375992	74646438	54	26969											
PCOLCE2	26577	genome.wustl.edu	37	chr3	142606566	142606566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactccaggaaaaccttcaCtgccaataaatccagactct	15	8	4	14	0	2	1	1	0	1	1	4	2	4	2	4	1	2	0	4	1	5	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:142606566C>T	ENST00000295992.3	-	2	443	c.137G>A	c.(136-138)aGt>aAt	p.S46N	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S46N|PCOLCE2_ENST00000461818.1_5'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	46	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.S46I(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAAACCTTCACTGCCAATAAA	0.388																																																	1	Substitution - Missense(1)	endometrium(1)											84	85	85					3																	142606566		2203	4300	6503	SO:0001583	missense	0			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.137G>A	3.37:g.142606566C>T	ENSP00000295992:p.Ser46Asn		B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain	p.S46N	ENST00000295992.3	37	c.137	CCDS3127.1	3	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933143	0.92458	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.30981	1.51;1.51	5.66	5.66	0.87406	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81949	-0.0699	10	0.87932	D	0	-29.6912	17.2324	0.86988	0.0:1.0:0.0:0.0	.	46	Q9UKZ9	PCOC2_HUMAN	N	46	ENSP00000295992:S46N;ENSP00000419842:S46N	ENSP00000295992:S46N	S	-	2	0	PCOLCE2	144089256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.053000	0.76641	2.662000	0.90505	0.655000	0.94253	AGT	PCOLCE2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000163710		0.388	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1		0	18	0	C	NM_013363		142606566	-1			no_errors	ENST00000295992	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	142606566	C	T	142606566	3	4	94	1	0	0	0	0	1	0	0	0	11634	565	20	3	1142	3	PCOLCE2	3	142606566	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	19230574	142606566	55415864	55	26970											
ABCC5	10057	genome.wustl.edu	37	chr3	183665162	183665162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggctgggggaatctgccCgtgcataagaacgatcatca	12	8	12	9	2	3	1	2	0	1	1	3	3	3	2	1	3	3	2	1	3	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:183665162C>T	ENST00000334444.6	-	23	3604	c.3364G>A	c.(3364-3366)Ggg>Agg	p.G1122R	ABCC5_ENST00000265586.6_Missense_Mutation_p.G1079R	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1122	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.G1122R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	GGAATCTGCCCGTGCATAAGA	0.562																																																	1	Substitution - Missense(1)	prostate(1)											45	53	50					3																	183665162		2065	4189	6254	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3364G>A	3.37:g.183665162C>T	ENSP00000333926:p.Gly1122Arg		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.G1122R	ENST00000334444.6	37	c.3364	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956771	0.73902	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.97089	-4.24;-4.24	5.63	5.63	0.86233	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.108387	0.64402	D	0.000003	D	0.98327	0.9445	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;0.961	D;P	0.68765	0.96;0.532	D	0.98429	1.0581	10	0.49607	T	0.09	-22.4555	19.6816	0.95965	0.0:1.0:0.0:0.0	.	1079;1122	Q86UX3;O15440	.;MRP5_HUMAN	R	1122;1079	ENSP00000333926:G1122R;ENSP00000265586:G1079R	ENSP00000265586:G1079R	G	-	1	0	ABCC5	185147856	0.985000	0.35326	0.801000	0.32222	0.451000	0.32288	3.268000	0.51585	2.654000	0.90174	0.655000	0.94253	GGG	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	-	0	28	0	C	NM_005688		183665162	-1	tier1	-	no_errors	ENST00000334444	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	T	T	183665162	C	T	183665162	3	4	94	1	0	0	0	0	1	0	0	0	56	652	23	1	981	1	ABCC5	3	183665162	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	41058596	183665162	14357268	56	26971											
EIF4G1	1981	genome.wustl.edu	37	chr3	184045115	184045115	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcgtgcgcggacaccTgctaccaagcggagcttcag	8	8	12	13	4	1	1	1	1	0	0	2	3	1	3	2	2	5	2	2	2	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr3:184045115T>C	ENST00000346169.2	+	24	3811	c.3540T>C	c.(3538-3540)ccT>ccC	p.P1180P	EIF4G1_ENST00000350481.5_Silent_p.P1016P|EIF4G1_ENST00000434061.2_Silent_p.P985P|EIF4G1_ENST00000342981.4_Silent_p.P1181P|EIF4G1_ENST00000435046.2_Silent_p.P984P|EIF4G1_ENST00000319274.6_Silent_p.P1180P|EIF4G1_ENST00000411531.1_Silent_p.P1141P|EIF4G1_ENST00000352767.3_Silent_p.P1187P|EIF4G1_ENST00000427845.1_Silent_p.P1094P|EIF4G1_ENST00000441154.1_Silent_p.P1017P|EIF4G1_ENST00000424196.1_Silent_p.P1187P|EIF4G1_ENST00000382330.3_Silent_p.P1187P|EIF4G1_ENST00000392537.2_Silent_p.P1093P|EIF4G1_ENST00000414031.1_Silent_p.P1140P|SNORD66_ENST00000390856.1_RNA|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1180					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCGGACACCTGCTACCAAGC	0.657																																																	0													44	48	47					3																	184045115		2203	4300	6503	SO:0001819	synonymous_variant	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"Parkinson disease"	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3540T>C	3.37:g.184045115T>C			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.P1187	ENST00000346169.2	37	c.3561	CCDS3259.1	3																																																																																			EIF4G1	-	NULL	ENSG00000114867		0.657	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0	57	0	T	NM_182917		184045115	1			no_errors	ENST00000352767	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.158	C	C	184045115	T	C	184045115	2	2	94	1	0	0	0	0	0	0	0	1	5052	1567	55	4		4	EIF4G1	3	184045115	Silent	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	379953	184045115	13977315	57	26972											
RGS12	6002	genome.wustl.edu	37	chr4	3418813	3418813	+	Frame_Shift_Del	DEL	A	A	-																															cactccagtgtgtccacgccAaaaaaggtgacctccccgag																										TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:3418813delA	ENST00000344733.5	+	8	3505	c.2601delA	c.(2599-2601)ccafs	p.P867fs	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Frame_Shift_Del_p.P867fs|RGS12_ENST00000306648.7_Frame_Shift_Del_p.P265fs|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Frame_Shift_Del_p.P867fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.P219fs|RGS12_ENST00000538395.1_Frame_Shift_Del_p.P209fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	867					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCACGCCAAAAAAGGTGA	0.637																																																	0													32	34	33					4																	3418813		2203	4300	6503	SO:0001589	frameshift_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2601delA	4.37:g.3418813delA	ENSP00000339381:p.Pro867fs		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.K869fs	ENST00000344733.5	37	c.2601	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.637	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1		0	54	0	A	NM_002926		3418813	1	tier1		no_errors	ENST00000344733	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.018	-	-	3418813	A	-	3418813	7	5	94	1	0	1	0	1	0	0	0	0	13340	117	5	0	2685	0	RGS12	4	3418813	Frame_Shift_Del	DEL	A	TCGA-L5-A8NV-01A-11D-A37C-09		3418813	187735463	58	26973											
KIT	3815	genome.wustl.edu	37	chr4	55561936	55561936	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaagcaattccatttatgTgtttgttagaggtaaatgct	11	17	8	5	0	0	1	0	0	0	1	1	1	1	1	1	1	2	5	1	1	6	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:55561936T>A	ENST00000288135.5	+	2	423	c.326T>A	c.(325-327)gTg>gAg	p.V109E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	109	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATTTATGTGTTTGTTAGA	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													56	56	56					4																	55561936		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.326T>A	4.37:g.55561936T>A	ENSP00000288135:p.Val109Glu		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V109E	ENST00000288135.5	37	c.326	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643387	0.67244	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.20598	2.06;2.06	5.2	5.2	0.72013	Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000048	T	0.48768	0.1518	M	0.82323	2.585	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	T	0.54689	-0.8256	10	0.87932	D	0	.	12.9423	0.58352	0.0:0.0:0.0:1.0	.	109;109	P10721-2;P10721	.;KIT_HUMAN	E	109	ENSP00000288135:V109E;ENSP00000390987:V109E	ENSP00000288135:V109E	V	+	2	0	KIT	55256693	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	4.494000	0.60347	2.189000	0.69895	0.533000	0.62120	GTG	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub	ENSG00000157404		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	57	0	T			55561936	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	55561936	T	A	55561936	3	1	94	1	0	0	0	0	1	0	0	0	8356	1696	59	5	332	5	KIT	4	55561936	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	52143123	55561936	135592340	59	26974											
KIT	3815	genome.wustl.edu	37	chr4	55604601	55604601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttctccagatttacTccaacttagcaaactgcagc	10	14	5	12	0	1	1	0	0	1	1	3	1	2	1	2	0	6	3	2	0	4	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:55604601T>C	ENST00000288135.5	+	21	2906	c.2809T>C	c.(2809-2811)Tcc>Ccc	p.S937P		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	937	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGATTTACTCCAACTTAGC	0.488		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													174	165	168					4																	55604601		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2809T>C	4.37:g.55604601T>C	ENSP00000288135:p.Ser937Pro		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S937P	ENST00000288135.5	37	c.2809	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	T	17.19	3.327693	0.60743	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.78246	-1.16;-1.16	5.62	5.62	0.85841	Protein kinase, catalytic domain (1);	0.225831	0.31519	N	0.007519	T	0.74627	0.3741	N	0.24115	0.695	0.30797	N	0.740311	D;D	0.58620	0.982;0.983	P;P	0.55871	0.786;0.649	T	0.74405	-0.3676	10	0.36615	T	0.2	.	11.0191	0.47707	0.0:0.0:0.1553:0.8447	.	933;937	P10721-2;P10721	.;KIT_HUMAN	P	937;933	ENSP00000288135:S937P;ENSP00000390987:S933P	ENSP00000288135:S937P	S	+	1	0	KIT	55299358	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.659000	0.54489	2.140000	0.66376	0.459000	0.35465	TCC	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_dom	ENSG00000157404		0.488	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	45	0	T			55604601	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	C	C	55604601	T	C	55604601	3	2	94	1	0	0	0	0	1	0	0	0	8356	1551	54	4	2891	4	KIT	4	55604601	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	42665	55604601	135549675	60	26975											
GK2	2712	genome.wustl.edu	37	chr4	80329257	80329257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgatgactaagtagttccGctgtttttgaattgaaaacc	11	15	9	6	1	0	4	0	4	0	0	1	4	1	4	2	0	1	4	2	0	5	6	rs140376639	byFrequency	TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:80329257G>A	ENST00000358842.3	-	1	115	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.A33G(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGTAGTTCCGCTGTTTTTGA	0.493													G|||	4	0.000798722	0.003	0	5008	,	,		17608	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	endometrium(1)						G	VAL/ALA	9,4397	15.5+/-35.6	0,9,2194	98	97	98		98	3.6	0.7	4	dbSNP_134	98	0,8600		0,0,4300	yes	missense	GK2	NM_033214.2	64	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	possibly-damaging	33/554	80329257	9,12997	2203	4300	6503	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"Glycerol kinases"	4291	protein-coding gene	gene with protein product		600148	"glycerol kinase pseudogene 2"	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.98C>T	4.37:g.80329257G>A	ENSP00000351706:p.Ala33Val		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.A33V	ENST00000358842.3	37	c.98	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	G	15.95	2.985012	0.53934	0.002043	0.0	ENSG00000196475	ENST00000358842	T	0.51325	0.71	3.57	3.57	0.40892	Carbohydrate kinase, FGGY, N-terminal (1);	0.052975	0.85682	D	0.000000	T	0.58991	0.2161	L	0.56280	1.765	0.53688	D	0.999972	D	0.71674	0.998	P	0.62560	0.904	T	0.61840	-0.6980	10	0.54805	T	0.06	-14.0824	13.4771	0.61314	0.0:0.0:1.0:0.0	.	33	Q14410	GLPK2_HUMAN	V	33	ENSP00000351706:A33V	ENSP00000351706:A33V	A	-	2	0	GK2	80548281	1.000000	0.71417	0.713000	0.30519	0.242000	0.25591	6.091000	0.71406	2.307000	0.77673	0.460000	0.39030	GCG	GK2	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin	ENSG00000196475		0.493	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2	-	0	50	0	G	NM_033214		80329257	-1	tier1	rs140376639	no_errors	ENST00000358842	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.998	A	A	80329257	G	A	80329257	3	1	94	1	0	0	0	0	1	0	0	0	6447	1087	38	1	1567	1	GK2	4	80329257	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	24724656	80329257	110825019	61	26976											
DSPP	1834	genome.wustl.edu	37	chr4	88536371	88536371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagcagtgacggcagtgatAgcgacagcagcaatagaagt	15	6	13	7	2	0	3	0	2	0	1	0	4	0	3	0	1	4	4	0	1	5	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:88536371A>G	ENST00000282478.7	+	4	2590	c.2557A>G	c.(2557-2559)Agc>Ggc	p.S853G	DSPP_ENST00000399271.1_Missense_Mutation_p.S853G|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	853	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		cggcagtgatagcgacagcag	0.502																																																	0													83	104	97					4																	88536371		1650	2963	4613	SO:0001583	missense	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2557A>G	4.37:g.88536371A>G	ENSP00000282478:p.Ser853Gly		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.S853G	ENST00000282478.7	37	c.2557	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	4.691	0.128490	0.08981	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87412	-2.25;-2.25	0.918	0.918	0.19386	.	.	.	.	.	T	0.73110	0.3545	L	0.31926	0.97	0.19300	N	0.999974	P	0.43701	0.815	B	0.36134	0.218	T	0.61964	-0.6954	9	0.14252	T	0.57	.	4.0869	0.09951	1.0:0.0:0.0:0.0	.	853	Q9NZW4	DSPP_HUMAN	G	853	ENSP00000382213:S853G;ENSP00000282478:S853G	ENSP00000282478:S853G	S	+	1	0	DSPP	88755395	0.002000	0.14202	0.007000	0.13788	0.004000	0.04260	-0.413000	0.07123	0.659000	0.30945	0.139000	0.15985	AGC	DSPP	-	NULL	ENSG00000152591		0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3		0	94	0	A	NM_014208		88536371	1			no_errors	ENST00000282478	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.663	G	G	88536371	A	G	88536371	3	3	94	1	0	0	0	0	1	0	0	0	4796	420	15	4	2571	4	DSPP	4	88536371	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	8207114	88536371	102617905	62	26977											
HERC6	55008	genome.wustl.edu	37	chr4	89304465	89304465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacaaaggaagggtcttcGcatggggagctggttctgaa	10	8	15	8	1	2	1	0	1	2	0	3	3	2	3	1	5	1	3	1	5	3	2	rs375413927		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:89304465G>T	ENST00000264346.7	+	2	351	c.292G>T	c.(292-294)Gca>Tca	p.A98S	HERC6_ENST00000380265.5_Missense_Mutation_p.A98S|HERC6_ENST00000273960.3_Missense_Mutation_p.A98S	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	98					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAGGGTCTTCGCATGGGGAGC	0.483																																																	0													59	66	64					4																	89304465		1920	4137	6057	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"hect domain and RLD 6"				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.292G>T	4.37:g.89304465G>T	ENSP00000264346:p.Ala98Ser		B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A98S	ENST00000264346.7	37	c.292	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	G	8.184	0.794422	0.16327	.	.	ENSG00000138642	ENST00000380265;ENST00000438983;ENST00000511939;ENST00000273960;ENST00000264346	D;D;D	0.83506	-1.73;-1.73;-1.73	5.01	3.1	0.35709	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.213819	0.31909	N	0.006879	T	0.50820	0.1638	N	0.02266	-0.62	0.27562	N	0.950141	P;P	0.36712	0.51;0.566	B;B	0.31290	0.085;0.127	T	0.57177	-0.7856	10	0.05833	T	0.94	.	6.2183	0.20667	0.0957:0.0:0.6037:0.3007	.	98;98	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	S	98	ENSP00000369617:A98S;ENSP00000273960:A98S;ENSP00000264346:A98S	ENSP00000264346:A98S	A	+	1	0	HERC6	89523488	0.850000	0.29656	0.366000	0.25914	0.988000	0.76386	1.249000	0.32839	1.331000	0.45412	0.485000	0.47835	GCA	HERC6	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	ENSG00000138642		0.483	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2		0	63	0	G			89304465	1			no_errors	ENST00000264346	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.723	T	T	89304465	G	T	89304465	3	4	94	1	0	0	0	0	1	0	0	0	7089	1087	38	2	95	2	HERC6	4	89304465	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	768094	89304465	101849811	63	26978											
CENPE	1062	genome.wustl.edu	37	chr4	104066470	104066470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttatattaaattgttcctCtttctcataaatctcttgga	10	21	3	7	0	3	0	1	0	3	0	6	1	4	1	1	1	0	1	1	1	6	9			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:104066470C>T	ENST00000265148.3	-	32	4683	c.4594G>A	c.(4594-4596)Gag>Aag	p.E1532K	CENPE_ENST00000380026.3_Missense_Mutation_p.E1507K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1532					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATTGTTCCTCTTTCTCATAA	0.303																																																	0													40	40	40					4																	104066470		2202	4297	6499	SO:0001583	missense	0			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"Kinesins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	1856	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 61"	117143	"centromere protein E (312kD)"			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4594G>A	4.37:g.104066470C>T	ENSP00000265148:p.Glu1532Lys		A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1532K	ENST00000265148.3	37	c.4594	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	4.210	0.037682	0.08148	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.65364	-0.15;-0.11	4.08	0.0236	0.14138	.	.	.	.	.	T	0.44726	0.1307	L	0.43923	1.385	0.09310	N	1	B;B	0.33807	0.426;0.013	B;B	0.32090	0.14;0.006	T	0.24404	-1.0161	9	0.24483	T	0.36	.	2.6117	0.04893	0.0956:0.2909:0.3634:0.2501	.	1507;1532	Q02224-3;Q02224	.;CENPE_HUMAN	K	1532;1532;1507	ENSP00000265148:E1532K;ENSP00000369365:E1507K	ENSP00000265148:E1532K	E	-	1	0	CENPE	104285919	0.124000	0.22315	0.073000	0.20177	0.038000	0.13279	-0.051000	0.11885	0.053000	0.16036	-0.333000	0.08304	GAG	CENPE	-	superfamily_Signal_recog_particl_SRP54_hlx	ENSG00000138778		0.303	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		-	0	49	0	C			104066470	-1	tier1	-	no_errors	ENST00000265148	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.001	T	T	104066470	C	T	104066470	3	4	94	1	0	0	0	0	1	0	0	0	3237	922	32	3	3583	3	CENPE	4	104066470	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	14762005	104066470	87087806	64	26979											
ELOVL6	79071	genome.wustl.edu	37	chr4	110980902	110980902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcaccagttcgaagagcaCcgaatatacttcataatgaa	17	8	7	9	2	1	2	1	1	0	1	2	4	1	2	2	0	3	3	2	0	7	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:110980902C>G	ENST00000394607.3	-	4	393	c.230G>C	c.(229-231)gGt>gCt	p.G77A	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Missense_Mutation_p.G77A			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	77					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TCGAAGAGCACCGAATATACT	0.403																																																	0													67	62	64					4																	110980902		2203	4300	6503	SO:0001583	missense	0			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.230G>C	4.37:g.110980902C>G	ENSP00000378105:p.Gly77Ala		Q4W5L0|Q8NCD1	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.G77A	ENST00000394607.3	37	c.230	CCDS3690.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.228891	0.95173	.	.	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.51	5.51	0.81932	.	0.099330	0.64402	D	0.000002	T	0.42810	0.1219	M	0.76170	2.325	0.80722	D	1	P	0.41313	0.745	P	0.49387	0.609	T	0.11470	-1.0586	10	0.15499	T	0.54	-19.5071	19.8016	0.96509	0.0:1.0:0.0:0.0	.	77	Q9H5J4	ELOV6_HUMAN	A	77	ENSP00000378105:G77A;ENSP00000304736:G77A;ENSP00000425488:G77A;ENSP00000426086:G77A	ENSP00000304736:G77A	G	-	2	0	ELOVL6	111200351	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.718000	0.84743	2.770000	0.95276	0.655000	0.94253	GGT	ELOVL6	-	pfam_GNS1_SUR4	ENSG00000170522		0.403	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELOVL6	HGNC	protein_coding	OTTHUMT00000255748.1		0	29	0	C	NM_024090		110980902	-1			no_errors	ENST00000394607	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	G	G	110980902	C	G	110980902	3	3	94	1	0	0	0	0	1	0	0	0	5094	507	18	5	575	5	ELOVL6	4	110980902	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	6914432	110980902	80173374	65	26980											
MAP9	79884	genome.wustl.edu	37	chr4	156274462	156274462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggcctcaaatgatgCtaatgcttcttctcttttag	8	16	6	11	0	3	1	1	1	2	0	5	1	4	1	2	1	2	2	2	1	3	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:156274462C>T	ENST00000311277.4	-	11	1674	c.1411G>A	c.(1411-1413)Gca>Aca	p.A471T	AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000610249.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.A447T|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000599555.2_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	471					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TCAAATGATGCTAATGCTTCT	0.323																																																	0													70	68	68					4																	156274462		2203	4297	6500	SO:0001583	missense	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1411G>A	4.37:g.156274462C>T	ENSP00000310593:p.Ala471Thr		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.A471T	ENST00000311277.4	37	c.1411	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.973560	0.92919	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.09630	2.96;2.96;2.96	5.37	5.37	0.77165	.	0.285191	0.38381	N	0.001708	T	0.33469	0.0864	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.998	T	0.01899	-1.1251	10	0.87932	D	0	-19.6892	16.1819	0.81915	0.0:1.0:0.0:0.0	.	446;471;471	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	T	471;447;470	ENSP00000310593:A471T;ENSP00000427402:A447T;ENSP00000394048:A470T	ENSP00000310593:A471T	A	-	1	0	MAP9	156493912	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	5.192000	0.65115	2.670000	0.90874	0.655000	0.94253	GCA	MAP9	-	NULL	ENSG00000164114		0.323	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	-	0	49	0	C	NM_001039580		156274462	-1	tier1	-	no_errors	ENST00000311277	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.996	T	T	156274462	C	T	156274462	3	4	94	1	0	0	0	0	1	0	0	0	9308	797	28	3	548	3	MAP9	4	156274462	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	45293560	156274462	34879814	66	26981											
RXFP1	59350	genome.wustl.edu	37	chr4	159538284	159538284	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttttcctttttcagaGtcctgatgaataacgtcctc	7	18	6	10	1	2	3	1	2	1	1	6	3	5	3	3	0	1	0	3	0	2	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:159538284G>T	ENST00000307765.5	+	9	933	c.682G>T	c.(682-684)Gtc>Ttc	p.V228F	RXFP1_ENST00000343542.5_Splice_Site_p.V228F|RXFP1_ENST00000460056.2_Splice_Site_p.V147F|RXFP1_ENST00000470033.1_Splice_Site_p.V195F|RXFP1_ENST00000448688.2_Splice_Site_p.V147F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	228					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTTTTTCAGAGTCCTGATGAA	0.373																																																	0													164	157	159					4																	159538284		1853	4103	5956	SO:0001630	splice_region_variant	0			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"GPCR / Class A : Relaxin family peptide receptors"	19718	protein-coding gene	gene with protein product		606654	"leucine-rich repeat-containing G protein-coupled receptor 7"	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.681-1G>T	4.37:g.159538284G>T			B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.V228F	ENST00000307765.5	37	c.682	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	9.165	1.019657	0.19355	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;D;T	0.83673	3.61;3.61;4.29;-1.75;3.61	5.53	4.69	0.59074	.	0.384497	0.28214	N	0.016169	T	0.57770	0.2076	N	0.01076	-1.035	0.45015	D	0.998034	B;B;B;B;B;B;B;B;B	0.17465	0.001;0.004;0.001;0.0;0.0;0.0;0.0;0.022;0.001	B;B;B;B;B;B;B;B;B	0.21917	0.009;0.009;0.008;0.003;0.003;0.001;0.002;0.037;0.005	T	0.56829	-0.7914	10	0.09338	T	0.73	.	13.7312	0.62789	0.0757:0.0:0.9243:0.0	.	239;255;147;228;195;147;98;165;228	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;.;RXFP1_HUMAN	F	147;228;147;228;195;98	ENSP00000423306:V147F;ENSP00000303248:V228F;ENSP00000414885:V147F;ENSP00000345889:V228F;ENSP00000420712:V195F	ENSP00000303248:V228F	V	+	1	0	RXFP1	159757734	1.000000	0.71417	0.829000	0.32907	0.828000	0.46876	3.392000	0.52537	1.466000	0.48025	0.650000	0.86243	GTC	RXFP1	-	NULL	ENSG00000171509		0.373	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	-	0	52	0	G	NM_021634	Missense_Mutation	159538284	1	tier1	-	no_errors	ENST00000307765	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.988	T	T	159538284	G	T	159538284	5	4	94	1	0	0	0	0	0	0	1	0	13804	1043	36	3	716	3	RXFP1	4	159538284	Splice_Site	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	3263822	159538284	31615992	67	26982											
ODZ3	55714	genome.wustl.edu	37	chr4	183522243	183522243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctttgcccgccgagctGcaaaccacacccgagtccgt	7	7	10	17	4	0	0	0	0	0	0	1	2	1	0	5	0	5	4	5	0	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:183522243G>T	ENST00000511685.1	+	4	801	c.678G>T	c.(676-678)ctG>ctT	p.L226L	TENM3_ENST00000406950.2_Silent_p.L226L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	226	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCGCCGAGCTGCAAACCACAC	0.532																																																	0													73	82	79					4																	183522243		1881	4107	5988	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.678G>T	4.37:g.183522243G>T			Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.L226	ENST00000511685.1	37	c.678	CCDS47165.1	4																																																																																			TENM3	-	pfam_Ten_N	ENSG00000218336		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	HGNC	protein_coding	OTTHUMT00000361734.1	-	0	66	0	G			183522243	1	tier1	-	no_errors	ENST00000406950	ensembl	human	known	74_37	silent	28.09	63	25	SNP	1.000	T	T	183522243	G	T	183522243	2	4	94	1	0	0	0	0	0	0	0	1	10875	1306	46	3		3	ODZ3	4	183522243	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	23983959	183522243	7632033	68	26983											
KIAA1430	57587	genome.wustl.edu	37	chr4	186085253	186085253	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgagttgagatagcccatAttgcgatgatagtccatcag	12	11	11	7	1	1	3	1	3	0	1	2	6	2	3	2	0	2	1	2	0	3	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:186085253A>G	ENST00000458385.2	-	4	1520	c.1401T>C	c.(1399-1401)aaT>aaC	p.N467N		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN		467										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GATAGCCCATATTGCGATGAT	0.383																																																	0													166	160	162					4																	186085253		1907	4129	6036	SO:0001819	synonymous_variant	0																														ENST00000458385.2:c.1401T>C	4.37:g.186085253A>G			B3KRP7|D3DP60|Q05CU1|Q4W5M4|Q8N6E7|Q9UF45	Silent	SNP	NULL	p.N467	ENST00000458385.2	37	c.1401	CCDS47168.1	4																																																																																			KIAA1430	-	NULL	ENSG00000164323		0.383	KIAA1430-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KIAA1430	HGNC	protein_coding	OTTHUMT00000360717.2	-	0	38	0	A			186085253	-1	tier1	-	no_errors	ENST00000458385	ensembl	human	novel	74_37	silent	8.00	46	4	SNP	0.367	G	G	186085253	A	G	186085253	2	3	94	1	0	0	0	0	0	0	0	1	8259	446	16	4		4	KIAA1430	4	186085253	Silent	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	2563010	186085253	5069023	69	26984											
FAT1	2195	genome.wustl.edu	37	chr4	187542528	187542528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagccatgttagttccttGtattatcaatgtgtaaatgg	11	15	8	7	0	1	0	1	0	0	0	2	0	2	0	3	1	1	4	3	1	6	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr4:187542528G>T	ENST00000441802.2	-	10	5421	c.5212C>A	c.(5212-5214)Caa>Aaa	p.Q1738K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1738	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTAGTTCCTTGTATTATCAAT	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													94	91	92					4																	187542528		1891	4108	5999	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5212C>A	4.37:g.187542528G>T	ENSP00000406229:p.Gln1738Lys			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.Q1738K	ENST00000441802.2	37	c.5212	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097648	0.56075	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01665	4.7	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.08088	0.0202	L	0.56280	1.765	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.51332	-0.8719	10	0.19147	T	0.46	.	19.5916	0.95514	0.0:0.0:1.0:0.0	.	1738	Q14517	FAT1_HUMAN	K	1738;1740	ENSP00000406229:Q1738K	ENSP00000260147:Q1740K	Q	-	1	0	FAT1	187779522	1.000000	0.71417	0.978000	0.43139	0.632000	0.37999	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	CAA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000083857		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0	14	0	G	NM_005245		187542528	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	missense	10.00	18	2	SNP	1.000	T	T	187542528	G	T	187542528	3	4	94	1	0	0	0	0	1	0	0	0	5711	1386	48	3	8626	3	FAT1	4	187542528	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1457275	187542528	3611748	70	26985											
TRIP13	9319	genome.wustl.edu	37	chr5	901487	901487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgatgacaactttactgtTttcagacaagaacgtcaaca	14	12	7	8	1	2	4	2	2	0	2	2	4	2	4	0	0	4	1	0	0	5	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:901487T>A	ENST00000166345.3	+	5	832	c.476T>A	c.(475-477)tTt>tAt	p.F159Y		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	159					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			ACTTTACTGTTTTCAGACAAG	0.443																																																	0													115	109	111					5																	901487		2203	4300	6503	SO:0001583	missense	0			L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"ATPases / AAA-type"	12307	protein-coding gene	gene with protein product	"thyroid receptor interacting protein 13"	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.476T>A	5.37:g.901487T>A	ENSP00000166345:p.Phe159Tyr		C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B	p.F159Y	ENST00000166345.3	37	c.476	CCDS3858.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.19|16.19	3.053209|3.053209	0.55218|0.55218	.|.	.|.	ENSG00000071539|ENSG00000071539	ENST00000513435|ENST00000166345;ENST00000354240	D|D	0.94931|0.94828	-3.56|-3.53	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.93344|0.93344	0.7878|0.7878	L|L	0.46567|0.46567	1.45|1.45	0.80722|0.80722	D|D	1|1	.|D	.|0.54207	.|0.965	.|P	.|0.47645	.|0.553	D|D	0.92907|0.92907	0.6344|0.6344	8|10	0.40728|0.40728	T|T	0.16|0.16	-9.1067|-9.1067	15.5928|15.5928	0.76550|0.76550	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|159	.|Q15645	.|PCH2_HUMAN	I|Y	155|159	ENSP00000427528:F155I|ENSP00000166345:F159Y	ENSP00000427528:F155I|ENSP00000166345:F159Y	F|F	+|+	1|2	0|0	TRIP13|TRIP13	954487|954487	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.119000|0.119000	0.20118|0.20118	7.405000|7.405000	0.80007|0.80007	2.163000|2.163000	0.67991|0.67991	0.402000|0.402000	0.26972|0.26972	TTT|TTT	TRIP13	-	superfamily_P-loop_NTPase	ENSG00000071539		0.443	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP13	HGNC	protein_coding	OTTHUMT00000206721.2	-	0	54	0	T	NM_004237		901487	1	tier1	-	no_errors	ENST00000166345	ensembl	human	known	74_37	missense	5.71	65	4	SNP	1.000	A	A	901487	T	A	901487	3	1	94	1	0	0	0	0	1	0	0	0	16605	1841	64	5	494	5	TRIP13	5	901487	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09		901487	180013773	71	26986											
CDH12	1010	genome.wustl.edu	37	chr5	21755909	21755909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacaactcttgctgcctgCggctgtatccatttcttcgg	7	14	8	12	2	2	0	0	0	2	0	4	0	3	0	2	2	5	3	2	2	4	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:21755909C>T	ENST00000382254.1	-	14	2762	c.1676G>A	c.(1675-1677)cGc>cAc	p.R559H	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.R519H|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.R559H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGCTGCCTGCGGCTGTATCC	0.428										HNSCC(59;0.17)																																							0													121	107	112					5																	21755909		2203	4300	6503	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1676G>A	5.37:g.21755909C>T	ENSP00000371689:p.Arg559His		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R559H	ENST00000382254.1	37	c.1676	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	31	5.063062	0.93898	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60040	0.22;0.22;0.22	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84302	0.5442	H	0.95917	3.74	0.58432	D	0.999998	D;D	0.89917	0.964;1.0	P;D	0.81914	0.749;0.995	D	0.89237	0.3581	10	0.72032	D	0.01	.	19.0963	0.93253	0.0:1.0:0.0:0.0	.	519;559	B7Z2U6;P55289	.;CAD12_HUMAN	H	559;559;519	ENSP00000423577:R559H;ENSP00000371689:R559H;ENSP00000428786:R519H	ENSP00000371689:R559H	R	-	2	0	CDH12	21791666	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.469000	0.80959	2.515000	0.84797	0.460000	0.39030	CGC	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.428	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	61	0	C	NM_004061		21755909	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	missense	36.36	48	28	SNP	1.000	T	T	21755909	C	T	21755909	3	4	94	1	0	0	0	0	1	0	0	0	3105	768	27	1	716	1	CDH12	5	21755909	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	20854422	21755909	159159351	72	26987											
SPEF2	79925	genome.wustl.edu	37	chr5	35793299	35793299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattaacagtcaactccgaGttcgtggactggcggaagtt	10	12	11	8	3	1	0	1	0	0	0	3	3	2	2	1	3	2	2	1	3	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:35793299G>A	ENST00000356031.3	+	32	4747	c.4593G>A	c.(4591-4593)gaG>gaA	p.E1531E	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Silent_p.E1526E|SPEF2_ENST00000303129.4_Silent_p.E328E	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1531					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCAACTCCGAGTTCGTGGACT	0.433																																																	0													99	92	94					5																	35793299		1884	4111	5995	SO:0001819	synonymous_variant	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4593G>A	5.37:g.35793299G>A			Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Silent	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.E1531	ENST00000356031.3	37	c.4593	CCDS43309.1	5																																																																																			SPEF2	-	NULL	ENSG00000152582		0.433	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	45	0	G	NM_144722		35793299	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	silent	37.78	28	17	SNP	0.504	A	A	35793299	G	A	35793299	2	1	94	1	0	0	0	0	0	0	0	1	15082	1020	36	3		3	SPEF2	5	35793299	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	14037390	35793299	145121961	73	26988											
ITGA1	3672	genome.wustl.edu	37	chr5	52145257	52145257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattcaatgactttcagCggcccggtggaagacatgtt	13	10	10	8	2	2	2	2	1	0	1	2	3	2	3	1	3	1	1	1	3	4	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:52145257C>T	ENST00000282588.6	+	2	578	c.120C>T	c.(118-120)agC>agT	p.S40S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	40					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGACTTTCAGCGGCCCGGTGG	0.348																																																	0													132	132	132					5																	52145257		2203	4300	6503	SO:0001819	synonymous_variant	0			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"CD molecules", "Integrins"	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.120C>T	5.37:g.52145257C>T			B2RNU0	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S40	ENST00000282588.6	37	c.120	CCDS3955.1	5																																																																																			ITGA1	-	NULL	ENSG00000213949		0.348	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	-	0	50	0	C	NM_181501		52145257	1	tier1	-	no_errors	ENST00000282588	ensembl	human	known	74_37	silent	15.56	38	7	SNP	0.151	T	T	52145257	C	T	52145257	2	4	94	1	0	0	0	0	0	0	0	1	7899	767	27	1		1	ITGA1	5	52145257	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	16351958	52145257	128770003	74	26989											
KCNN2	3781	genome.wustl.edu	37	chr5	113831724	113831724	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgccctccctgggctcataAgccagaccatcaggcagcag	10	5	10	16	1	2	1	2	0	0	1	3	1	3	1	4	2	2	3	4	2	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:113831724A>C	ENST00000512097.3	+	9	2603	c.1585A>C	c.(1585-1587)Agc>Cgc	p.S529R	KCNN2_ENST00000503706.1_Missense_Mutation_p.S181R|KCNN2_ENST00000264773.3_Missense_Mutation_p.S529R|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	529					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TGGGCTCATAAGCCAGACCAT	0.507																																																	0													127	126	126					5																	113831724		2202	4300	6502	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1585A>C	5.37:g.113831724A>C	ENSP00000427120:p.Ser529Arg		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.S529R	ENST00000512097.3	37	c.1585	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	A	20.3	3.965948	0.74131	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98649	-5.05;-3.37	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.97548	0.9197	M	0.76574	2.34	0.80722	D	1	B	0.24483	0.104	B	0.22601	0.04	D	0.97324	0.9946	10	0.28530	T	0.3	.	14.9059	0.70718	1.0:0.0:0.0:0.0	.	529	Q9H2S1	KCNN2_HUMAN	R	529;181	ENSP00000264773:S529R;ENSP00000421439:S181R	ENSP00000264773:S529R	S	+	1	0	KCNN2	113859623	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.569000	0.67391	2.009000	0.58944	0.523000	0.50628	AGC	KCNN2	-	NULL	ENSG00000080709		0.507	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	-	0	50	0	A	NM_021614		113831724	1	tier1	-	no_errors	ENST00000264773	ensembl	human	known	74_37	missense	22.95	47	14	SNP	1.000	C	C	113831724	A	C	113831724	3	2	94	1	0	0	0	0	1	0	0	0	8106	72	3	4	1615	4	KCNN2	5	113831724	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	61686467	113831724	67083536	75	26990											
FSTL4	23105	genome.wustl.edu	37	chr5	132537685	132537685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatcatccactcctgcaaagGgtgtgcggatgaggtgctgg	9	9	14	9	1	1	1	1	1	0	0	3	2	3	2	2	4	3	2	2	4	2	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:132537685G>T	ENST00000265342.7	-	15	2015	c.1766C>A	c.(1765-1767)cCc>cAc	p.P589H	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	589						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCTGCAAAGGGTGTGCGGAT	0.567																																																	0													198	184	189					5																	132537685		2203	4300	6503	SO:0001583	missense	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"EF-hand domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1766C>A	5.37:g.132537685G>T	ENSP00000265342:p.Pro589His		Q8TBU0|Q9UPU1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.P589H	ENST00000265342.7	37	c.1766	CCDS34238.1	5	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760185	0.49468	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.60672	0.17	5.37	5.37	0.77165	WD40/YVTN repeat-like-containing domain (1);	0.052929	0.85682	D	0.000000	T	0.67116	0.2859	M	0.69823	2.125	0.42849	D	0.994072	B;P	0.37548	0.194;0.599	B;P	0.44946	0.059;0.465	T	0.69394	-0.5157	10	0.54805	T	0.06	-37.2259	18.4576	0.90727	0.0:0.0:1.0:0.0	.	589;238	Q6MZW2;B3KPF3	FSTL4_HUMAN;.	H	589;420	ENSP00000265342:P589H	ENSP00000265342:P589H	P	-	2	0	FSTL4	132565584	0.999000	0.42202	0.929000	0.37066	0.816000	0.46133	3.052000	0.49893	2.685000	0.91497	0.591000	0.81541	CCC	FSTL4	-	NULL	ENSG00000053108		0.567	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL4	HGNC	protein_coding	OTTHUMT00000370212.1	-	0	64	0	G	XM_048786		132537685	-1	tier1	-	no_errors	ENST00000265342	ensembl	human	known	74_37	missense	32.20	40	19	SNP	0.999	T	T	132537685	G	T	132537685	3	4	94	1	0	0	0	0	1	0	0	0	6103	1232	43	3	770	3	FSTL4	5	132537685	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	18705961	132537685	48377575	76	26991											
PCDHA1	56147	genome.wustl.edu	37	chr5	140167566	140167566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaacgacaacgcgccggCgctgctggcgcctcgagtgg	7	4	16	14	8	0	1	0	0	0	1	1	4	0	1	2	3	3	2	2	3	2	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:140167566C>T	ENST00000504120.2	+	1	1691	c.1691C>T	c.(1690-1692)gCg>gTg	p.A564V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A564V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	564	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCGCCGGCGCTGCTGGCG	0.677																																																	0													83	83	83					5																	140167566		2203	4299	6502	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1691C>T	5.37:g.140167566C>T	ENSP00000420840:p.Ala564Val		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A564V	ENST00000504120.2	37	c.1691	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	0.989	-0.694663	0.03303	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.34667	1.35;1.35	3.68	-0.641	0.11490	Cadherin (3);Cadherin-like (1);	0.685951	0.11751	N	0.532999	T	0.09598	0.0236	N	0.01874	-0.695	0.09310	N	1	B;B	0.16166	0.014;0.016	B;B	0.15484	0.002;0.013	T	0.28776	-1.0033	10	0.09084	T	0.74	.	1.0763	0.01633	0.1619:0.3761:0.1608:0.3012	.	564;564	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	564	ENSP00000420840:A564V;ENSP00000367373:A564V	ENSP00000367373:A564V	A	+	2	0	PCDHA1	140147750	0.000000	0.05858	0.004000	0.12327	0.317000	0.28152	-0.323000	0.07997	-0.126000	0.11682	-0.516000	0.04426	GCG	PCDHA1	-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000204970		0.677	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	-	0	148	0	C	NM_018900		140167566	1	tier1	-	no_errors	ENST00000504120	ensembl	human	known	74_37	missense	22.14	102	29	SNP	0.003	T	T	140167566	C	T	140167566	3	4	94	1	0	0	0	0	1	0	0	0	11558	768	27	1	1693	1	PCDHA1	5	140167566	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	7629881	140167566	40747694	77	26992											
PCDHA6	56142	genome.wustl.edu	37	chr5	140207737	140207737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctcccgcttctgctcCtcgcagcctggaaggtgggg	3	10	13	15	2	1	0	0	0	1	0	5	1	4	1	4	4	3	4	4	4	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:140207737C>T	ENST00000529310.1	+	1	175	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	PCDHA6_ENST00000527624.1_Missense_Mutation_p.L21F|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	21					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCTGCTCCTCGCAGCCTG	0.577																																																	0													83	95	91					5																	140207737		2203	4300	6503	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.61C>T	5.37:g.140207737C>T	ENSP00000433378:p.Leu21Phe		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L21F	ENST00000529310.1	37	c.61	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	C	8.675	0.903795	0.17760	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.57273	0.57;0.41	4.4	0.452	0.16634	.	0.265359	0.19702	U	0.108008	T	0.43411	0.1246	L	0.49571	1.57	0.09310	N	0.999996	B;B;D	0.54601	0.016;0.005;0.967	B;B;P	0.46543	0.029;0.013;0.52	T	0.43829	-0.9367	10	0.09590	T	0.72	.	9.0853	0.36577	0.0:0.5808:0.0:0.4192	.	21;21;21	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	F	21	ENSP00000433378:L21F;ENSP00000434113:L21F	ENSP00000434113:L21F	L	+	1	0	PCDHA6	140187921	0.000000	0.05858	0.038000	0.18304	0.218000	0.24690	-0.360000	0.07622	0.081000	0.16988	0.313000	0.20887	CTC	PCDHA6	-	NULL	ENSG00000081842		0.577	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	-	0	66	0	C	NM_018909		140207737	1	tier1	-	no_errors	ENST00000529310	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.616	T	T	140207737	C	T	140207737	3	4	94	1	0	0	0	0	1	0	0	0	11567	681	24	3	63	3	PCDHA6	5	140207737	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	40171	140207737	40707523	78	26993											
RELL2	285613	genome.wustl.edu	37	chr5	141019164	141019164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccgtcagggacgctccaagGaaggaaaaagccgcccccgg	11	3	13	14	4	1	0	1	0	0	0	3	3	3	3	5	4	1	1	5	4	4	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:141019164G>A	ENST00000297164.3	+	4	1651	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000521367.1_Missense_Mutation_p.E85K|FCHSD1_ENST00000523856.1_5'UTR|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000444782.1_Missense_Mutation_p.E151K|RELL2_ENST00000518856.1_Missense_Mutation_p.E85K	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	151					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCTCCAAGGAAGGAAAAAG	0.652																																																	0													37	42	40					5																	141019164		2202	4300	6502	SO:0001583	missense	0			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"chromosome 5 open reading frame 16"	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.451G>A	5.37:g.141019164G>A	ENSP00000297164:p.Glu151Lys		D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	pfam_TNF_rcpt_RELT	p.E151K	ENST00000297164.3	37	c.451	CCDS4265.1	5	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967549	0.74131	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.32	4.45	0.53987	.	0.135604	0.48286	N	0.000185	T	0.33030	0.0849	L	0.38531	1.155	0.80722	D	1	D;P	0.71674	0.998;0.889	D;B	0.66084	0.941;0.444	T	0.02288	-1.1182	10	0.35671	T	0.21	-12.359	13.6096	0.62068	0.0758:0.0:0.9242:0.0	.	85;151	E5RHA7;Q8NC24	.;RELL2_HUMAN	K	151;85;151;85	ENSP00000409443:E151K;ENSP00000430948:E85K;ENSP00000297164:E151K;ENSP00000427992:E85K	ENSP00000297164:E151K	E	+	1	0	RELL2	140999348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.720000	0.74723	1.237000	0.43756	0.655000	0.94253	GAA	RELL2	-	NULL	ENSG00000164620		0.652	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	-	0	79	0	G	NM_173828		141019164	1	tier1	-	no_errors	ENST00000297164	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	A	A	141019164	G	A	141019164	3	1	94	1	0	0	0	0	1	0	0	0	13264	1175	41	3	465	3	RELL2	5	141019164	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	811427	141019164	39896096	79	26994											
CYFIP2	26999	genome.wustl.edu	37	chr5	156746882	156746882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacttcgcccaggtgaCgctgcgtgagcccctgcggc	5	6	15	15	4	0	2	0	2	0	0	1	3	0	3	3	3	3	2	3	3	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr5:156746882C>T	ENST00000521420.1	+	13	1482	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	CYFIP2_ENST00000435847.2_Missense_Mutation_p.T164M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.T415M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.T490M|CYFIP2_ENST00000347377.6_Missense_Mutation_p.T490M|CYFIP2_ENST00000522463.1_Missense_Mutation_p.T294M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.T490M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCCAGGTGACGCTGCGTGAG	0.567																																																	0													150	155	153					5																	156746882		2203	4300	6503	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1391C>T	5.37:g.156746882C>T	ENSP00000430904:p.Thr464Met			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.T490M	ENST00000521420.1	37	c.1469		5	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917194	0.92249	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.97	5.97	0.96955	.	0.043296	0.85682	D	0.000000	T	0.52058	0.1711	M	0.74258	2.255	0.80722	D	1	D;D;D;D;P;D	0.71674	0.966;0.984;0.997;0.986;0.777;0.998	P;D;D;P;B;D	0.76071	0.629;0.932;0.939;0.761;0.099;0.987	T	0.49799	-0.8901	10	0.59425	D	0.04	-26.1381	15.8593	0.79009	0.0:0.8652:0.1348:0.0	.	354;294;464;490;490;490	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	490;294;464;490;490;415;164	ENSP00000325817:T490M;ENSP00000428009:T294M;ENSP00000430904:T464M;ENSP00000313567:T490M;ENSP00000366799:T490M;ENSP00000444645:T415M;ENSP00000403793:T164M	ENSP00000325817:T490M	T	+	2	0	CYFIP2	156679460	1.000000	0.71417	0.974000	0.42286	0.960000	0.62799	5.966000	0.70395	2.837000	0.97791	0.655000	0.94253	ACG	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.567	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0	28	0	C	NM_001037332		156746882	1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	156746882	C	T	156746882	3	4	94	1	0	0	0	0	1	0	0	0	4147	536	19	1	1519	1	CYFIP2	5	156746882	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	15727718	156746882	24168378	80	26995											
KIF13A	63971	genome.wustl.edu	37	chr6	17799582	17799582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccggggcagccaccGtagactcacactggtcccag	9	4	10	18	2	1	1	1	0	0	1	2	1	2	1	6	3	1	2	6	3	1	1	rs532977529	byFrequency	TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:17799582G>A	ENST00000259711.6	-	22	2810	c.2705C>T	c.(2704-2706)aCg>aTg	p.T902M	KIF13A_ENST00000378814.5_Missense_Mutation_p.T902M|KIF13A_ENST00000378816.5_Missense_Mutation_p.T902M|KIF13A_ENST00000378826.2_Missense_Mutation_p.T902M|KIF13A_ENST00000378843.2_Missense_Mutation_p.T902M	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	902					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGCAGCCACCGTAGACTCACA	0.493													G|||	2	0.000399361	0	0	5008	,	,		16458	0.002		0	False		,,,				2504	0																0													53	53	53					6																	17799582		1892	4106	5998	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.2705C>T	6.37:g.17799582G>A	ENSP00000259711:p.Thr902Met		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T902M	ENST00000259711.6	37	c.2705	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.53|18.53	3.643855|3.643855	0.67244|0.67244	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T	.|0.72394	.|-0.65;-0.65;-0.65;-0.65;-0.65	5.65|5.65	4.78|4.78	0.61160|0.61160	.|.	.|0.096756	.|0.64402	.|D	.|0.000001	T|T	0.73305|0.73305	0.3570|0.3570	L|L	0.48642|0.48642	1.525|1.525	0.44492|0.44492	D|D	0.997435|0.997435	.|P;D;P;D	.|0.89917	.|0.538;1.0;0.607;1.0	.|B;D;B;D	.|0.71414	.|0.144;0.961;0.107;0.973	T|T	0.77938|0.77938	-0.2400|-0.2400	5|10	.|0.72032	.|D	.|0.01	.|.	14.7723|14.7723	0.69688|0.69688	0.0697:0.0:0.9303:0.0|0.0697:0.0:0.9303:0.0	.|.	.|902;902;902;902	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	W|M	296|902	.|ENSP00000368091:T902M;ENSP00000259711:T902M;ENSP00000368103:T902M;ENSP00000368120:T902M;ENSP00000368093:T902M	.|ENSP00000259711:T902M	R|T	-|-	1|2	2|0	KIF13A|KIF13A	17907561|17907561	1.000000|1.000000	0.71417|0.71417	0.479000|0.479000	0.27329|0.27329	0.756000|0.756000	0.42949|0.42949	4.791000|4.791000	0.62460|0.62460	1.386000|1.386000	0.46466|0.46466	0.563000|0.563000	0.77884|0.77884	CGG|ACG	KIF13A	-	NULL	ENSG00000137177		0.493	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	-	0	47	0	G			17799582	-1	tier1	-	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.987	A	A	17799582	G	A	17799582	3	1	94	1	0	0	0	0	1	0	0	0	8301	1145	40	1	2809	1	KIF13A	6	17799582	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		17799582	153315485	81	26996											
TRIM31	11074	genome.wustl.edu	37	chr6	30080455	30080455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccacatgatgtttccccaAtctgagtgatgcatttgagg	10	13	9	9	0	1	4	0	4	1	0	3	4	3	4	3	1	1	2	3	1	1	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:30080455A>G	ENST00000376734.3	-	2	253	c.128T>C	c.(127-129)aTt>aCt	p.I43T	TRIM31_ENST00000485864.1_5'Flank|TRIM31_ENST00000540829.1_Missense_Mutation_p.I43T|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	43					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGTTTCCCCAATCTGAGTGAT	0.488																																																	0													113	116	115					6																	30080455		1511	2709	4220	SO:0001583	missense	0			AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	16289	protein-coding gene	gene with protein product		609316	"tripartite motif-containing 31"			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.128T>C	6.37:g.30080455A>G	ENSP00000365924:p.Ile43Thr		A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,prints_Znf_B-box_chordata,pfscan_Znf_B-box,pfscan_Znf_RING	p.I43T	ENST00000376734.3	37	c.128	CCDS34374.1	6	.	.	.	.	.	.	.	.	.	.	A	7.239	0.600817	0.13939	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.08370	3.1;3.1	3.74	-7.47	0.01365	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	2.509480	0.02378	N	0.078564	T	0.01222	0.0040	N	0.21508	0.67	0.09310	N	1	B	0.17852	0.024	B	0.13407	0.009	T	0.39921	-0.9590	10	0.27082	T	0.32	.	3.3406	0.07116	0.5001:0.1433:0.2671:0.0894	.	43	Q9BZY9	TRI31_HUMAN	T	43	ENSP00000365924:I43T;ENSP00000444311:I43T	ENSP00000365918:I43T	I	-	2	0	TRIM31	30188434	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.478000	0.00227	-1.522000	0.01769	-0.264000	0.10439	ATT	TRIM31	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000204616		0.488	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM31	HGNC	protein_coding	OTTHUMT00000076081.2	-	0	41	0	A			30080455	-1	tier1	-	no_errors	ENST00000376734	ensembl	human	known	74_37	missense	38.10	38	24	SNP	0.000	G	G	30080455	A	G	30080455	3	3	94	1	0	0	0	0	1	0	0	0	16553	101	4	4	1181	4	TRIM31	6	30080455	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	12280873	30080455	141034612	82	26997											
UHRF1BP1	54887	genome.wustl.edu	37	chr6	34802096	34802096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacgcttcttttgaattGtggcagctccagggctatag	7	14	10	10	1	1	1	0	1	1	0	3	1	3	1	2	2	1	4	2	2	3	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:34802096G>A	ENST00000192788.5	+	5	612	c.441G>A	c.(439-441)ttG>ttA	p.L147L	UHRF1BP1_ENST00000452449.2_Silent_p.L147L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	147							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTTTTGAATTGTGGCAGCTCC	0.517																																																	0													70	68	68					6																	34802096		1988	4148	6136	SO:0001819	synonymous_variant	0			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 107"	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.441G>A	6.37:g.34802096G>A			Q9NXE0	Silent	SNP	NULL	p.L147	ENST00000192788.5	37	c.441	CCDS43455.1	6																																																																																			UHRF1BP1	-	NULL	ENSG00000065060		0.517	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	-	0	40	0	G	NM_017754		34802096	1	tier1	-	no_errors	ENST00000192788	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	A	A	34802096	G	A	34802096	2	1	94	1	0	0	0	0	0	0	0	1	17017	1368	48	3		3	UHRF1BP1	6	34802096	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	4721641	34802096	136312971	83	26998											
PGC	5225	genome.wustl.edu	37	chr6	41710097	41710097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgccctgcatagctgtgGtggcctcatccacggacaga	8	8	11	14	1	1	1	1	0	0	1	2	2	2	2	4	3	3	2	4	3	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:41710097G>T	ENST00000373025.3	-	5	640	c.578C>A	c.(577-579)aCc>aAc	p.T193N	PGC_ENST00000425343.2_Missense_Mutation_p.T193N	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	193					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.T193I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CATAGCTGTGGTGGCCTCATC	0.607																																																	1	Substitution - Missense(1)	large_intestine(1)											124	92	103					6																	41710097		2203	4300	6503	SO:0001583	missense	0				CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.578C>A	6.37:g.41710097G>T	ENSP00000362116:p.Thr193Asn		B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.T193N	ENST00000373025.3	37	c.578	CCDS4859.1	6	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018421	0.35606	.	.	ENSG00000096088	ENST00000373025;ENST00000424183;ENST00000356667;ENST00000425343	T;T;T	0.58210	0.35;0.35;0.35	4.42	2.63	0.31362	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.135895	0.47093	D	0.000254	T	0.42720	0.1215	M	0.79693	2.465	0.33398	D	0.576943	D	0.54047	0.964	P	0.46076	0.503	T	0.48647	-0.9017	10	0.59425	D	0.04	.	9.4833	0.38913	0.08:0.1434:0.7767:0.0	.	193	P20142	PEPC_HUMAN	N	193;114;114;193	ENSP00000362116:T193N;ENSP00000349094:T114N;ENSP00000405094:T193N	ENSP00000349094:T114N	T	-	2	0	PGC	41818075	1.000000	0.71417	0.566000	0.28421	0.029000	0.11900	2.772000	0.47678	0.494000	0.27859	0.561000	0.74099	ACC	PGC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom	ENSG00000096088		0.607	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	HGNC	protein_coding	OTTHUMT00000040521.2		0	27	0	G			41710097	-1			no_errors	ENST00000373025	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.997	T	T	41710097	G	T	41710097	3	4	94	1	0	0	0	0	1	0	0	0	11824	1261	44	3	917	3	PGC	6	41710097	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	6908001	41710097	129404970	84	26999											
BYSL	705	genome.wustl.edu	37	chr6	41897994	41897994	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggtcctagaagtgtacAggggggtccgggaggtaaga	9	6	18	8	2	0	2	0	0	0	2	2	3	2	3	3	6	1	2	3	6	4	3	rs140565706		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:41897994A>T	ENST00000230340.4	+	3	931	c.556A>T	c.(556-558)Agg>Tgg	p.R186W		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	186					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAAGTGTACAGGGGGGTCCG	0.597																																																	0													23	27	26					6																	41897994		2203	4300	6503	SO:0001583	missense	0			L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.556A>T	6.37:g.41897994A>T	ENSP00000230340:p.Arg186Trp		Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	pfam_Bystin	p.R186W	ENST00000230340.4	37	c.556	CCDS34450.1	6	.	.	.	.	.	.	.	.	.	.	A	23.1	4.371714	0.82573	.	.	ENSG00000112578	ENST00000230340	T	0.47177	0.85	6.06	2.18	0.27775	.	0.216636	0.56097	D	0.000031	T	0.57814	0.2079	M	0.82323	2.585	0.51233	D	0.999918	D	0.59767	0.986	D	0.63957	0.92	T	0.66184	-0.5987	10	0.87932	D	0	-20.7023	13.4354	0.61082	0.6263:0.3737:0.0:0.0	.	186	Q13895	BYST_HUMAN	W	186	ENSP00000230340:R186W	ENSP00000230340:R186W	R	+	1	2	BYSL	42005972	1.000000	0.71417	0.997000	0.53966	0.823000	0.46562	3.566000	0.53805	0.132000	0.18615	-0.329000	0.08387	AGG	BYSL	-	pfam_Bystin	ENSG00000112578		0.597	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BYSL	HGNC	protein_coding	OTTHUMT00000040535.2		0	39	0	A			41897994	1			no_errors	ENST00000230340	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	41897994	A	T	41897994	3	4	94	1	0	0	0	0	1	0	0	0	1580	179	7	5	566	5	BYSL	6	41897994	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	187897	41897994	129217073	85	27000											
TRERF1	55809	genome.wustl.edu	37	chr6	42196257	42196257	+	Frame_Shift_Del	DEL	C	C	-																															agctggtccaggggcagcagCcccggcgcccccacgggccc																										TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:42196257delC	ENST00000372922.4	-	18	3991	c.3429delG	c.(3427-3429)gggfs	p.G1143fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.G1060fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.G1072fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.G1072fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.G1163fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1143	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGGGCAGCAGCCCCGGCGCCC	0.607																																																	0													138	156	150					6																	42196257		2203	4300	6503	SO:0001589	frameshift_variant	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3429delG	6.37:g.42196257delC	ENSP00000362013:p.Gly1143fs		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.L1164fs	ENST00000372922.4	37	c.3489	CCDS4867.1	6																																																																																			TRERF1	-	NULL	ENSG00000124496		0.607	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0	28	0	C	NM_033502		42196257	-1	tier1		no_errors	ENST00000541110	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	0.971	-	-	42196257	C	-	42196257	7	5	94	1	0	1	0	1	0	0	0	0	16523	726	26	0	177	0	TRERF1	6	42196257	Frame_Shift_Del	DEL	C	TCGA-L5-A8NV-01A-11D-A37C-09	298263	42196257	128918810	86	27001											
C6orf138	442213	genome.wustl.edu	37	chr6	48036096	48036096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtccgaatagagctggCttttggactggtccaggggg	8	10	16	7	1	0	1	0	0	0	1	2	3	2	2	2	5	1	3	2	5	3	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:48036096C>A	ENST00000339488.4	-	1	329	c.296G>T	c.(295-297)aGc>aTc	p.S99I	PTCHD4_ENST00000543600.1_Missense_Mutation_p.S82I	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	99						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										ATAGAGCTGGCTTTTGGACTG	0.632																																																	0													77	84	82					6																	48036096		1931	4135	6066	SO:0001583	missense	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 138"	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.296G>T	6.37:g.48036096C>A	ENSP00000341914:p.Ser99Ile		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S99I	ENST00000339488.4	37	c.296	CCDS34473.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.12|11.12	1.545036|1.545036	0.27652|0.27652	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	T|D;T	0.54866|0.92249	0.55|-3.0;0.63	5.03|5.03	4.17|4.17	0.49024|0.49024	.|.	.|0.100459	.|0.64402	.|D	.|0.000003	T|T	0.76990|0.76990	0.4065|0.4065	L|L	0.36672|0.36672	1.1|1.1	0.38594|0.38594	D|D	0.950493|0.950493	.|B;B	.|0.33073	.|0.104;0.396	.|B;B	.|0.29176	.|0.044;0.099	T|T	0.73329|0.73329	-0.4017|-0.4017	7|10	0.25751|0.20519	T|T	0.34|0.43	.|.	9.1974|9.1974	0.37237|0.37237	0.0:0.7754:0.1477:0.0769|0.0:0.7754:0.1477:0.0769	.|.	.|99;82	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	N|I	98|99;82	ENSP00000381722:K98N|ENSP00000341914:S99I;ENSP00000439864:S82I	ENSP00000381722:K98N|ENSP00000341914:S99I	K|S	-|-	3|2	2|0	C6orf138|C6orf138	48144055|48144055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	3.575000|3.575000	0.53870|0.53870	1.111000|1.111000	0.41721|0.41721	-0.216000|-0.216000	0.12614|0.12614	AAG|AGC	PTCHD4	-	NULL	ENSG00000244694		0.632	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	-	0	75	0	C	NM_001013732		48036096	-1	tier1	-	no_errors	ENST00000339488	ensembl	human	known	74_37	missense	31.15	42	19	SNP	1.000	A	A	48036096	C	A	48036096	3	1	94	1	0	0	0	0	1	0	0	0	2339	797	28	3	2256	3	C6orf138	6	48036096	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	5839839	48036096	123078971	87	27002											
ORC3L	23595	genome.wustl.edu	37	chr6	88313147	88313147	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtttgacaatctgattGaatttctgcaaaaatcacat	14	15	5	7	0	3	3	1	3	2	0	3	3	3	3	0	0	1	2	0	0	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:88313147G>T	ENST00000392844.3	+	4	271	c.223G>T	c.(223-225)Gaa>Taa	p.E75*	ORC3_ENST00000417380.2_Nonsense_Mutation_p.E22*|ORC3_ENST00000257789.4_Nonsense_Mutation_p.E75*|ORC3_ENST00000546266.1_5'UTR	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	75					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAATCTGATTGAATTTCTGCA	0.323																																																	0													63	63	63					6																	88313147		2203	4300	6503	SO:0001587	stop_gained	0			AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"origin recognition complex, subunit 3 (yeast homolog)-like", "origin recognition complex, subunit 3-like (yeast)", "origin recognition complex, subunit 3 honolog (yeast)"	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.223G>T	6.37:g.88313147G>T	ENSP00000376586:p.Glu75*		A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Nonsense_Mutation	SNP	pfam_ORC3	p.E75*	ENST00000392844.3	37	c.223	CCDS43486.1	6	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049890	0.55218	.	.	ENSG00000135336	ENST00000392844;ENST00000257789;ENST00000417380	.	.	.	5.66	4.79	0.61399	.	0.463597	0.24820	N	0.035331	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	15.991	11.3586	0.49630	0.1572:0.0:0.8428:0.0	.	.	.	.	X	75;75;22	.	ENSP00000257789:E75X	E	+	1	0	ORC3	88369866	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	1.921000	0.40035	1.404000	0.46819	0.585000	0.79938	GAA	ORC3	-	pfam_ORC3	ENSG00000135336		0.323	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ORC3	HGNC	protein_coding	OTTHUMT00000041452.2		0	46	0	G			88313147	1			no_errors	ENST00000257789	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.997	T	T	88313147	G	T	88313147	4	4	94	1	0	0	0	0	0	1	0	0	11302	1291	45	3	237	3	ORC3L	6	88313147	Nonsense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	40277051	88313147	82801920	88	27003											
VGLL2	245806	genome.wustl.edu	37	chr6	117589477	117589477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaggcagcccagagAaagagcgcccaccagaggca	16	0	14	11	1	0	4	0	0	0	4	0	6	0	5	3	3	2	2	3	3	3	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:117589477A>G	ENST00000326274.5	+	2	404	c.214A>G	c.(214-216)Aaa>Gaa	p.K72E	VGLL2_ENST00000352536.3_Missense_Mutation_p.K72E	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	72					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CAGCCCAGAGAAAGAGCGCCC	0.567																																																	0													106	123	117					6																	117589477		2203	4300	6503	SO:0001583	missense	0			AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"vestigial like 2 (Drosophila)"			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.214A>G	6.37:g.117589477A>G	ENSP00000320957:p.Lys72Glu		Q8WWX1	Missense_Mutation	SNP	pfam_Vg_Tdu	p.K72E	ENST00000326274.5	37	c.214	CCDS5115.1	6	.	.	.	.	.	.	.	.	.	.	A	19.72	3.881063	0.72294	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.53640	0.61	5.33	5.33	0.75918	.	0.187540	0.46758	D	0.000266	T	0.39145	0.1067	L	0.27053	0.805	0.58432	D	0.999994	D;D	0.58268	0.974;0.982	P;P	0.54499	0.754;0.734	T	0.40979	-0.9534	10	0.62326	D	0.03	-3.3777	15.4577	0.75327	1.0:0.0:0.0:0.0	.	72;72	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	E	72	ENSP00000320957:K72E	ENSP00000320957:K72E	K	+	1	0	VGLL2	117696170	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.727000	0.74764	2.241000	0.73720	0.533000	0.62120	AAA	VGLL2	-	NULL	ENSG00000170162		0.567	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VGLL2	HGNC	protein_coding	OTTHUMT00000041975.2	-	0	87	0	A	NM_153453		117589477	1	tier1	-	no_errors	ENST00000326274	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	G	G	117589477	A	G	117589477	3	3	94	1	0	0	0	0	1	0	0	0	17208	247	9	4	220	4	VGLL2	6	117589477	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	29276330	117589477	53525590	89	27004											
C6orf174	387104	genome.wustl.edu	37	chr6	127797352	127797352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgttctccacctccagttCgacgattttcctgcccagga	6	13	7	15	2	2	0	0	0	2	0	6	3	4	1	5	1	1	2	5	1	0	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:127797352C>T	ENST00000525778.1	-	6	2564	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K	SOGA3_ENST00000465909.2_Missense_Mutation_p.E607K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E607K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E607K|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000556132.1_Missense_Mutation_p.E607K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	607					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACCTCCAGTTCGACGATTTTC	0.612																																																	0													155	166	163					6																	127797352		2137	4259	6396	SO:0001583	missense	0			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1819G>A	6.37:g.127797352C>T	ENSP00000434570:p.Glu607Lys			Missense_Mutation	SNP	pfam_SOGA	p.E607K	ENST00000525778.1	37	c.1819	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948582	0.92593	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.51574	0.7;0.7;0.7;0.71	5.4	5.4	0.78164	.	0.045214	0.85682	D	0.000000	T	0.63236	0.2494	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64546	-0.6382	10	0.56958	D	0.05	-9.1882	19.1651	0.93553	0.0:1.0:0.0:0.0	.	607	Q5TF21	CF174_HUMAN	K	607	ENSP00000451768:E607K;ENSP00000357251:E607K;ENSP00000434570:E607K;ENSP00000435559:E607K	ENSP00000435559:E607K	E	-	1	0	C6orf174	127839045	1.000000	0.71417	0.824000	0.32777	0.982000	0.71751	7.770000	0.85390	2.543000	0.85770	0.555000	0.69702	GAA	SOGA3	-	pfam_SOGA	ENSG00000214338		0.612	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	-	0	65	0	C	NM_001012279		127797352	-1	tier1	-	no_errors	ENST00000368268	ensembl	human	known	74_37	missense	35.29	44	24	SNP	1.000	T	T	127797352	C	T	127797352	3	4	94	1	0	0	0	0	1	0	0	0	2352	893	31	1	1032	1	C6orf174	6	127797352	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	10207875	127797352	43317715	90	27005											
TNFAIP3	7128	genome.wustl.edu	37	chr6	138196886	138196886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagacacacccatggcccGaagtggacttcagtacaact	13	6	8	14	1	1	1	1	0	0	1	1	3	1	2	2	2	2	1	2	2	3	2	rs375378882		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:138196886G>T	ENST00000237289.4	+	4	614	c.548G>T	c.(547-549)cGa>cTa	p.R183L		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	183	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCCATGGCCCGAAGTGGACTT	0.443			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"tumor necrosis factor, alpha-induced protein 3"		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											121	119	119					6																	138196886		2203	4300	6503	SO:0001583	missense	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"OTU domain containing"	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.548G>T	6.37:g.138196886G>T	ENSP00000237289:p.Arg183Leu		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.R183L	ENST00000237289.4	37	c.548	CCDS5187.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.47|10.47	1.357874|1.357874	0.24598|0.24598	.|.	.|.	ENSG00000118503|ENSG00000118503	ENST00000539356|ENST00000237289;ENST00000535574;ENST00000535332;ENST00000544646	.|T	.|0.24350	.|1.86	6.08|6.08	3.22|3.22	0.36961|0.36961	.|Ovarian tumour, otubain (2);	.|0.623617	.|0.16890	.|N	.|0.195345	.|T	.|0.09113	.|0.0225	L|L	0.48642|0.48642	1.525|1.525	0.44207|0.44207	D|D	0.997033|0.997033	.|B	.|0.17667	.|0.023	.|B	.|0.17098	.|0.017	.|T	.|0.05733	.|-1.0867	.|10	0.22706|0.45353	T|T	0.39|0.12	-8.1519|-8.1519	5.4205|5.4205	0.16398|0.16398	0.2273:0.0:0.6337:0.1389|0.2273:0.0:0.6337:0.1389	.|.	.|183	.|P21580	.|TNAP3_HUMAN	X|L	183|183	.|ENSP00000237289:R183L	ENSP00000439665:E183X|ENSP00000237289:R183L	E|R	+|+	1|2	0|0	TNFAIP3|TNFAIP3	138238579|138238579	0.780000|0.780000	0.28664|0.28664	0.251000|0.251000	0.24312|0.24312	0.210000|0.210000	0.24377|0.24377	0.998000|0.998000	0.29744|0.29744	0.384000|0.384000	0.24942|0.24942	-0.345000|-0.345000	0.07892|0.07892	GAA|CGA	TNFAIP3	-	pfam_OTU,pfscan_OTU	ENSG00000118503		0.443	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1		0	48	0	G			138196886	1			no_errors	ENST00000237289	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.715	T	T	138196886	G	T	138196886	3	4	94	1	0	0	0	0	1	0	0	0	16321	1058	37	2	558	2	TNFAIP3	6	138196886	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	10399534	138196886	32918181	91	27006											
HIVEP2	3097	genome.wustl.edu	37	chr6	143095361	143095361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgagcctcttctgccTgttcaatacttttctgggag	5	17	9	10	0	5	1	1	1	4	0	5	2	5	2	2	1	3	1	2	1	2	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:143095361T>A	ENST00000367604.1	-	4	1154	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.Q172L|HIVEP2_ENST00000367603.2_Missense_Mutation_p.Q172L			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q172R(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTCTTCTGCCTGTTCAATACT	0.438																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												1	Substitution - Missense(1)	large_intestine(1)											138	132	134					6																	143095361		1867	4110	5977	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.515A>T	6.37:g.143095361T>A	ENSP00000356576:p.Gln172Leu		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q172L	ENST00000367604.1	37	c.515	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	T	13.87	2.367242	0.41902	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02656	4.21;4.21;4.21	5.79	3.29	0.37713	.	0.117281	0.64402	N	0.000013	T	0.01320	0.0043	L	0.56769	1.78	0.33838	D	0.631133	B	0.02656	0.0	B	0.04013	0.001	T	0.41016	-0.9532	10	0.41790	T	0.15	-9.1507	7.9716	0.30130	0.1285:0.0:0.2685:0.6031	.	172	P31629	ZEP2_HUMAN	L	172	ENSP00000356576:Q172L;ENSP00000356575:Q172L;ENSP00000012134:Q172L	ENSP00000012134:Q172L	Q	-	2	0	HIVEP2	143137054	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	3.191000	0.50981	0.404000	0.25506	0.533000	0.62120	CAG	HIVEP2	-	NULL	ENSG00000010818		0.438	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1		0	29	0	T			143095361	-1			no_errors	ENST00000012134	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.996	A	A	143095361	T	A	143095361	3	1	94	1	0	0	0	0	1	0	0	0	7214	1580	55	5	6849	5	HIVEP2	6	143095361	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	4898475	143095361	28019706	92	27007											
SYNE1	23345	genome.wustl.edu	37	chr6	152510430	152510430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgcagaagctctacgCgttcattaagaatggagata	12	11	10	8	2	2	3	1	0	1	3	2	4	2	3	1	1	3	3	1	1	5	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:152510430C>T	ENST00000367255.5	-	128	23859	c.23258G>A	c.(23257-23259)cGc>cAc	p.R7753H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R7682H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2277H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7753H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7682H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7365H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7753					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R7753H(2)|p.R7682H(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTCTACGCGTTCATTAAG	0.443										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	endometrium(3)											148	139	142					6																	152510430		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.23258G>A	6.37:g.152510430C>T	ENSP00000356224:p.Arg7753His		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.R7753H	ENST00000367255.5	37	c.23258	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	34	5.298528	0.95574	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000017	D	0.86781	0.6015	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.999	D	0.86552	0.1835	10	0.62326	D	0.03	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	7753;7753;7682;7682	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	H	7753;399;7682;7753;7682;7365;2277;675	ENSP00000356224:R7753H;ENSP00000356226:R399H;ENSP00000396024:R7682H;ENSP00000265368:R7753H;ENSP00000390975:R7682H;ENSP00000341887:R7365H;ENSP00000349276:R2277H;ENSP00000356220:R675H	ENSP00000265368:R7753H	R	-	2	0	SYNE1	152552123	1.000000	0.71417	0.970000	0.41538	0.927000	0.56198	7.747000	0.85070	2.840000	0.97914	0.655000	0.94253	CGC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	35	0	C	NM_182961		152510430	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	152510430	C	T	152510430	3	4	94	1	0	0	0	0	1	0	0	0	15492	768	27	1	3284	1	SYNE1	6	152510430	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	9415069	152510430	18604637	93	27008											
THBS2	7058	genome.wustl.edu	37	chr6	169633059	169633059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgcatgaccaggacccatCggggaagctgctgcactggg	8	5	15	13	2	0	1	0	1	0	0	1	3	0	3	3	4	3	4	3	4	1	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:169633059C>T	ENST00000366787.3	-	12	1954	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	569	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGGACCCATCGGGGAAGCTG	0.667																																					Esophageal Squamous(91;219 1934 18562 44706)												0													34	35	35					6																	169633059		2180	4264	6444	SO:0001583	missense	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1705G>A	6.37:g.169633059C>T	ENSP00000355751:p.Asp569Asn		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.D569N	ENST00000366787.3	37	c.1705	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721989	0.89298	.	.	ENSG00000186340	ENST00000366787	D	0.95554	-3.74	4.06	4.06	0.47325	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.191523	0.25148	U	0.032766	D	0.96636	0.8902	M	0.63169	1.94	0.51012	D	0.999904	D	0.89917	1.0	D	0.80764	0.994	D	0.97028	0.9748	10	0.59425	D	0.04	-30.5683	16.6818	0.85294	0.0:1.0:0.0:0.0	.	569	P35442	TSP2_HUMAN	N	569	ENSP00000355751:D569N	ENSP00000355751:D569N	D	-	1	0	THBS2	169374984	1.000000	0.71417	0.422000	0.26621	0.906000	0.53458	7.327000	0.79147	1.992000	0.58205	0.472000	0.43445	GAT	THBS2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000186340		0.667	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0	75	0	C	NM_003247		169633059	-1	tier1	-	no_errors	ENST00000366787	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	169633059	C	T	169633059	3	4	94	1	0	0	0	0	1	0	0	0	15901	884	31	1	1861	1	THBS2	6	169633059	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	17122629	169633059	1482008	94	27009											
FAM120B	84498	genome.wustl.edu	37	chr6	170704669	170704669	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagagaccagggaccaggTaagaaggccagtggtcactc	12	5	15	9	0	1	2	1	0	0	2	2	5	1	4	3	5	0	1	3	5	2	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr6:170704669T>C	ENST00000476287.1	+	9	2800		c.e9+2		FAM120B_ENST00000537664.1_Splice_Site|FAM120B_ENST00000252510.9_Splice_Site|FAM120B_ENST00000540480.1_Splice_Site	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B						cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGGACCAGGTAAGAAGGCCA	0.582																																																	0													40	33	35					6																	170704669		2194	4290	6484	SO:0001630	splice_region_variant	0			AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"PPARgamma constitutive coactivator 1", "constitutive coactivator of PPAR-gamma"	612266	"KIAA1838"	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.2692+2T>C	6.37:g.170704669T>C			B4DL34|Q86V68|Q96JI9	Splice_Site	SNP	-	e9+2	ENST00000476287.1	37	c.2761+2	CCDS5314.1	6	.	.	.	.	.	.	.	.	.	.	T	15.01	2.707025	0.48412	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287;ENST00000252510	.	.	.	4.81	2.4	0.29515	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3861	0.11318	0.0:0.1023:0.204:0.6937	.	.	.	.	.	-1	.	.	.	+	.	.	FAM120B	170546594	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.519000	0.35888	0.935000	0.37341	0.533000	0.62120	.	FAM120B	-	-	ENSG00000112584		0.582	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM120B	HGNC	protein_coding	OTTHUMT00000043259.2	-	0	22	0	T	NM_032448	Intron	170704669	1	tier1	-	no_errors	ENST00000537664	ensembl	human	known	74_37	splice_site	20.00	12	3	SNP	1.000	C	C	170704669	T	C	170704669	5	2	94	1	0	0	0	0	0	0	1	0	5436	1652	57	4	2724	4	FAM120B	6	170704669	Splice_Site	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	1071610	170704669	410398	95	27010											
TNRC18	84629	genome.wustl.edu	37	chr7	5401604	5401604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgcacctcggccagccGcatccggaagtccagctcca	7	5	11	18	4	0	0	0	0	0	0	4	1	3	1	6	2	3	4	6	2	1	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:5401604G>A	ENST00000430969.1	-	13	4804	c.4456C>T	c.(4456-4458)Cgg>Tgg	p.R1486W	TNRC18_ENST00000399537.4_Missense_Mutation_p.R1486W	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1486							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCGGCCAGCCGCATCCGGAAG	0.667																																																	0													20	23	22					7																	5401604		2076	4206	6282	SO:0001583	missense	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4456C>T	7.37:g.5401604G>A	ENSP00000395538:p.Arg1486Trp		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R1486W	ENST00000430969.1	37	c.4456	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917049	0.73098	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000440081	T;T;T	0.26223	2.16;2.16;1.75	5.52	2.4	0.29515	.	0.000000	0.40469	N	0.001093	T	0.49660	0.1570	M	0.77103	2.36	0.39721	D	0.971474	D	0.89917	1.0	D	0.76071	0.987	T	0.61063	-0.7138	10	0.87932	D	0	.	13.4634	0.61239	0.0:0.0:0.4916:0.5084	.	1486	O15417	TNC18_HUMAN	W	1486;1486;541;19	ENSP00000382452:R1486W;ENSP00000395538:R1486W;ENSP00000395990:R19W	ENSP00000382452:R1486W	R	-	1	2	TNRC18	5368130	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.532000	0.36029	1.314000	0.45095	0.561000	0.74099	CGG	TNRC18	-	NULL	ENSG00000182095		0.667	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding			0	62	0	G			5401604	-1			no_errors	ENST00000399537	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A	A	5401604	G	A	5401604	3	1	94	1	0	0	0	0	1	0	0	0	16386	1086	38	1	4522	1	TNRC18	7	5401604	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		5401604	153737059	96	27011											
USP42	84132	genome.wustl.edu	37	chr7	6180592	6180592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatacttttgatccatatCttgatataacattggagata	14	15	6	6	0	1	4	0	2	1	2	2	5	2	4	1	1	2	0	1	1	5	9			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:6180592C>G	ENST00000306177.5	+	7	930	c.772C>G	c.(772-774)Ctt>Gtt	p.L258V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	258	USP.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TGATCCATATCTTGATATAAC	0.249																																																	0													60	61	61					7																	6180592		1784	4028	5812	SO:0001583	missense	0			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"Ubiquitin-specific peptidases"	20068	protein-coding gene	gene with protein product			"ubiquitin specific protease 42"			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.772C>G	7.37:g.6180592C>G	ENSP00000301962:p.Leu258Val		A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L258V	ENST00000306177.5	37	c.772	CCDS47535.1	7	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640590	0.47153	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.03330	3.97;3.97;3.97	5.85	5.85	0.93711	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.56097	D	0.000021	T	0.19366	0.0465	M	0.80028	2.48	0.38657	D	0.951994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.00156	-1.1978	10	0.87932	D	0	.	14.3302	0.66550	0.0:0.9296:0.0:0.0704	.	221;258;258;258	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	V	258;191;104	ENSP00000301962:L258V;ENSP00000430568:L191V;ENSP00000408217:L104V	ENSP00000301962:L258V	L	+	1	0	USP42	6147118	0.998000	0.40836	0.986000	0.45419	0.102000	0.19082	2.925000	0.48884	2.773000	0.95371	0.655000	0.94253	CTT	USP42	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000106346		0.249	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	USP42	HGNC	protein_coding	OTTHUMT00000324262.3		0	19	0	C	XM_166526		6180592	1			no_errors	ENST00000306177	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	G	G	6180592	C	G	6180592	3	3	94	1	0	0	0	0	1	0	0	0	17122	913	32	5	794	5	USP42	7	6180592	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	778988	6180592	152958071	97	27012											
SNX13	23161	genome.wustl.edu	37	chr7	17836453	17836453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatacatgctcactcacctgGcataattgcaagtaatttcg	12	13	6	10	1	2	0	2	0	0	0	3	0	2	0	1	1	3	4	1	1	5	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:17836453G>A	ENST00000409389.1	-	25	2828	c.2656C>T	c.(2656-2658)Cca>Tca	p.P886S	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.P875S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	886					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CACTCACCTGGCATAATTGCA	0.353																																																	0													174	156	162					7																	17836453		1843	4085	5928	SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2656C>T	7.37:g.17836453G>A	ENSP00000386705:p.Pro886Ser		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.P875S	ENST00000409389.1	37	c.2623		7	.	.	.	.	.	.	.	.	.	.	G	17.42	3.383960	0.61845	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.36878	1.23;1.23	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.53671	1.685	0.80722	D	1	D;D;P	0.71674	0.964;0.998;0.955	P;D;P	0.70935	0.722;0.971;0.717	T	0.55927	-0.8063	10	0.52906	T	0.07	.	19.214	0.93768	0.0:0.0:1.0:0.0	.	672;886;875	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	S	886;875;923	ENSP00000386705:P886S;ENSP00000398789:P875S	ENSP00000242044:P923S	P	-	1	0	SNX13	17802978	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.476000	0.97823	2.529000	0.85273	0.557000	0.71058	CCA	SNX13	-	pfam_Sorting_nexin_C	ENSG00000071189		0.353	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1		0	32	0	G	NM_015132		17836453	-1			no_errors	ENST00000428135	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	17836453	G	A	17836453	3	1	94	1	0	0	0	0	1	0	0	0	14929	1203	42	3	258	3	SNX13	7	17836453	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	11655861	17836453	141302210	98	27013											
EEPD1	80820	genome.wustl.edu	37	chr7	36194611	36194611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccccacttccctgagcctGcagagtgaggacctggacct	8	7	11	15	0	0	3	0	2	0	1	1	5	1	5	6	2	3	1	6	2	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:36194611G>A	ENST00000242108.4	+	2	1396	c.678G>A	c.(676-678)ctG>ctA	p.L226L	EEPD1_ENST00000534978.1_Silent_p.L226L	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	226					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCCTGAGCCTGCAGAGTGAGG	0.662																																																	0													41	44	43					7																	36194611		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.678G>A	7.37:g.36194611G>A			Q96K64|Q9C0F7	Silent	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.L226	ENST00000242108.4	37	c.678	CCDS34619.1	7																																																																																			EEPD1	-	NULL	ENSG00000122547		0.662	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	-	0	50	0	G	NM_030636		36194611	1	tier1	-	no_errors	ENST00000242108	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	A	A	36194611	G	A	36194611	2	1	94	1	0	0	0	0	0	0	0	1	4946	1306	46	3		3	EEPD1	7	36194611	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	18358158	36194611	122944052	99	27014											
ABCA13	154664	genome.wustl.edu	37	chr7	48634375	48634375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacaataatgaaggaggttCgggaaggctgtgctgcggtg	12	8	16	5	2	0	1	0	1	0	0	1	3	0	3	0	5	3	3	0	5	5	2	rs369999071		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:48634375C>T	ENST00000435803.1	+	58	14734	c.14710C>T	c.(14710-14712)Cgg>Tgg	p.R4904W	ABCA13_ENST00000544596.1_Missense_Mutation_p.R634W	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4904	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAAGGAGGTTCGGGAAGGCTG	0.498																																																	0								C	TRP/ARG	0,3996		0,0,1998	146	151	149		14710	0.5	0	7		149	1,8345		0,1,4172	no	missense	ABCA13	NM_152701.3	101	0,1,6170	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	4904/5059	48634375	1,12341	1998	4173	6171	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14710C>T	7.37:g.48634375C>T	ENSP00000411096:p.Arg4904Trp		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4904W	ENST00000435803.1	37	c.14710	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818236	0.50633	0.0	1.2E-4	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.42131	0.98;0.98;0.98	5.7	0.51	0.16983	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.724340	0.03316	N	0.191120	T	0.68723	0.3032	M	0.88181	2.935	0.09310	N	1	D;D;D	0.89917	0.998;0.999;1.0	P;D;P	0.64687	0.888;0.928;0.798	T	0.49184	-0.8966	10	0.87932	D	0	.	9.5364	0.39224	0.3635:0.282:0.3545:0.0	.	634;2606;4904	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	W	4904;677;634	ENSP00000411096:R4904W;ENSP00000391042:R677W;ENSP00000442634:R634W	ENSP00000391042:R677W	R	+	1	2	ABCA13	48604921	0.000000	0.05858	0.000000	0.03702	0.536000	0.34869	0.307000	0.19296	-0.183000	0.10585	-0.217000	0.12591	CGG	ABCA13	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.498	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	73	0	C	NM_152701		48634375	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.000	T	T	48634375	C	T	48634375	3	4	94	1	0	0	0	0	1	0	0	0	31	875	31	1	14769	1	ABCA13	7	48634375	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	12439764	48634375	110504288	100	27015											
YWHAG	7532	genome.wustl.edu	37	chr7	75959049	75959049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgtcgaacgcggtcttggCcaagtggcacgcttgctctg	5	10	14	12	5	2	0	0	0	2	0	4	1	2	0	1	3	2	3	1	3	2	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:75959049C>A	ENST00000307630.3	-	2	811	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	197					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GCGGTCTTGGCCAAGTGGCAC	0.592																																																	0													172	151	158					7																	75959049		2203	4300	6503	SO:0001583	missense	0			AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"14-3-3 gamma", "protein phosphatase 1, regulatory subunit 170"	605356	"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.589G>T	7.37:g.75959049C>A	ENSP00000306330:p.Ala197Ser		O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.A197S	ENST00000307630.3	37	c.589	CCDS5584.1	7	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833390	0.91036	.	.	ENSG00000170027	ENST00000307630;ENST00000536755;ENST00000453207	T	0.53423	0.62	5.56	5.56	0.83823	14-3-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.91406	3.205	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	T	0.81066	-0.1101	10	0.87932	D	0	-19.9205	18.7066	0.91641	0.0:1.0:0.0:0.0	.	197	P61981	1433G_HUMAN	S	197;175;157	ENSP00000306330:A197S	ENSP00000306330:A197S	A	-	1	0	YWHAG	75796985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.616000	0.83018	2.899000	0.99337	0.655000	0.94253	GCC	YWHAG	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	ENSG00000170027		0.592	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAG	HGNC	protein_coding	OTTHUMT00000253002.1	-	0	26	0	C	NM_012479		75959049	-1	tier1	-	no_errors	ENST00000307630	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	A	A	75959049	C	A	75959049	3	1	94	1	0	0	0	0	1	0	0	0	17552	739	26	3	158	3	YWHAG	7	75959049	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	27324674	75959049	83179614	101	27016											
AKAP9	10142	genome.wustl.edu	37	chr7	91712605	91712605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagactgaggtacaagaaaGcaaaaaggcctgcatgtttg	15	8	12	6	0	0	3	0	2	0	2	0	4	0	3	1	2	3	4	1	2	5	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:91712605G>A	ENST00000359028.2	+	34	8543	c.8318G>A	c.(8317-8319)aGc>aAc	p.S2773N	AKAP9_ENST00000356239.3_Missense_Mutation_p.S2761N|AKAP9_ENST00000358100.2_Missense_Mutation_p.S2773N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2773					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTACAAGAAAGCAAAAAGGCC	0.423			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													88	84	85					7																	91712605		2203	4300	6503	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	379	protein-coding gene	gene with protein product	"A-kinase anchoring protein 450", "AKAP9-BRAF fusion protein", "AKAP120-like protein", "centrosome- and golgi-localized protein kinase N-associated protein", "protein kinase A anchoring protein 9", "A-kinase anchor protein, 350kDa", "protein phosphatase 1, regulatory subunit 45", "yotiao"	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8318G>A	7.37:g.91712605G>A	ENSP00000351922:p.Ser2773Asn		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.S2773N	ENST00000359028.2	37	c.8318		7	.	.	.	.	.	.	.	.	.	.	G	0.805	-0.754140	0.03041	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.8	-1.56	0.08532	.	1.144530	0.06655	N	0.763408	T	0.21801	0.0525	N	0.13235	0.315	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.0;0.0;0.0;0.0	T	0.26849	-1.0091	10	0.05436	T	0.98	.	10.2912	0.43596	0.424:0.0:0.576:0.0	.	2765;2765;2773;2761;2753	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	N	2761;2773;2773;2765;607	ENSP00000348573:S2761N;ENSP00000351922:S2773N;ENSP00000350813:S2773N;ENSP00000378042:S607N	ENSP00000348573:S2761N	S	+	2	0	AKAP9	91550541	0.168000	0.22989	0.004000	0.12327	0.033000	0.12548	0.491000	0.22419	-0.154000	0.11118	-0.312000	0.09012	AGC	AKAP9	-	NULL	ENSG00000127914		0.423	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0	37	0	G	NM_005751		91712605	1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.014	A	A	91712605	G	A	91712605	3	1	94	1	0	0	0	0	1	0	0	0	459	971	34	3	8412	3	AKAP9	7	91712605	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	15753556	91712605	67426058	102	27017											
PON3	5446	genome.wustl.edu	37	chr7	94991782	94991782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgacagtcaggttatccacTaaggtgcccaactgtatcac	11	10	8	12	1	2	0	2	0	0	0	4	1	3	0	2	2	2	2	2	2	4	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:94991782T>G	ENST00000265627.5	-	8	808	c.798A>C	c.(796-798)ttA>ttC	p.L266F	PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	266					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GGTTATCCACTAAGGTGCCCA	0.478																																																	0													79	73	75					7																	94991782		2203	4300	6503	SO:0001583	missense	0			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"Paraoxonases"	9206	protein-coding gene	gene with protein product	"arylesterase 3"	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.798A>C	7.37:g.94991782T>G	ENSP00000265627:p.Leu266Phe		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.L266F	ENST00000265627.5	37	c.798	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	T	4.405	0.074796	0.08485	.	.	ENSG00000105852	ENST00000265627	T	0.41400	1.0	4.98	-3.5	0.04710	Six-bladed beta-propeller, TolB-like (1);	0.203281	0.40640	N	0.001055	T	0.31702	0.0805	M	0.79123	2.44	0.37067	D	0.898361	B	0.23591	0.088	B	0.23275	0.045	T	0.09818	-1.0657	10	0.44086	T	0.13	-0.0094	0.1418	0.00084	0.3353:0.1684:0.2107:0.2856	.	266	Q15166	PON3_HUMAN	F	266	ENSP00000265627:L266F	ENSP00000265627:L266F	L	-	3	2	PON3	94829718	0.000000	0.05858	0.755000	0.31263	0.011000	0.07611	-3.056000	0.00625	-0.439000	0.07222	-1.705000	0.00719	TTA	PON3	-	pfam_SGL	ENSG00000105852		0.478	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	-	0	48	0	T	NM_000940		94991782	-1	tier1	-	no_errors	ENST00000265627	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.360	G	G	94991782	T	G	94991782	3	3	94	1	0	0	0	0	1	0	0	0	12289	1519	53	4	274	4	PON3	7	94991782	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	3279177	94991782	64146881	103	27018											
PTCD1	26024	genome.wustl.edu	37	chr7	99022949	99022949	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccgggcactctggcttcCggaggctctggaggcccaag	5	8	15	13	2	2	0	0	0	2	0	3	2	3	2	3	6	1	3	3	6	1	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:99022949C>T	ENST00000292478.4	-	6	1456	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.P451P|PTCD1_ENST00000555673.1_Silent_p.P451P	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	402					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTGGCTTCCGGAGGCTCTG	0.637																																																	0													92	91	92					7																	99022949		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1206G>A	7.37:g.99022949C>T			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.P451	ENST00000292478.4	37	c.1353	CCDS34691.1	7																																																																																			ATP5J2-PTCD1	-	NULL	ENSG00000248919		0.637	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	-	0	56	0	C	NM_015545		99022949	-1	tier1	-	no_errors	ENST00000413834	ensembl	human	known	74_37	silent	32.88	49	24	SNP	0.004	T	T	99022949	C	T	99022949	2	4	94	1	0	0	0	0	0	0	0	1	12769	639	23	1		1	PTCD1	7	99022949	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	4031167	99022949	60115714	104	27019											
CYP3A7	1551	genome.wustl.edu	37	chr7	99308416	99308416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggacatcagggtgagtgGccagttcatatataatgaag	12	10	13	6	0	2	2	2	2	0	0	2	3	2	3	1	3	0	2	1	3	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:99308416G>T	ENST00000336374.2	-	10	967	c.965C>A	c.(964-966)gCc>gAc	p.A322D	AC069294.1_ENST00000408560.1_RNA	NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	322					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	AGGGTGAGTGGCCAGTTCATA	0.448																																																	0													91	79	83					7																	99308416		2203	4300	6503	SO:0001583	missense	0			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"Cytochrome P450s"	2640	protein-coding gene	gene with protein product		605340	"cytochrome P450, subfamily IIIA, polypeptide 7"			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.965C>A	7.37:g.99308416G>T	ENSP00000337450:p.Ala322Asp		A4D288|Q9H241	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.A322D	ENST00000336374.2	37	c.965	CCDS5673.1	7	.	.	.	.	.	.	.	.	.	.	g	16.97	3.268260	0.59540	.	.	ENSG00000160870	ENST00000292414;ENST00000336374	T	0.73258	-0.73	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	D	0.90957	0.7157	H	0.99758	4.755	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.94500	0.7709	10	0.87932	D	0	.	13.8987	0.63790	0.0:0.0:1.0:0.0	.	322	P24462	CP3A7_HUMAN	D	322	ENSP00000337450:A322D	ENSP00000292414:A322D	A	-	2	0	CYP3A7	99146352	1.000000	0.71417	0.918000	0.36340	0.262000	0.26303	9.476000	0.97823	1.909000	0.55274	0.455000	0.32223	GCC	CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	ENSG00000160870		0.448	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	-	0	59	0	G			99308416	-1	tier1	-	no_errors	ENST00000336374	ensembl	human	known	74_37	missense	6.06	93	6	SNP	1.000	T	T	99308416	G	T	99308416	3	4	94	1	0	0	0	0	1	0	0	0	4190	1203	42	3	562	3	CYP3A7	7	99308416	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	285467	99308416	59830247	105	27020											
ZAN	7455	genome.wustl.edu	37	chr7	100369492	100369492	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcaatgtcaccaggtGgtgcctccccagtccagctt	6	12	8	15	0	3	0	2	0	1	0	6	0	5	0	5	2	2	1	5	2	1	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:100369492G>A	ENST00000348028.3	+	0	5439				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTCACCAGGTGGTGCCTCCCC	0.647																																																	0													56	61	59					7																	100369492		2140	4241	6381			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"zonadhesin"			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369492G>A			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.V1758	ENST00000348028.3	37	c.5274		7																																																																																			ZAN	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000146839		0.647	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0	68	0	G	NM_003386		100369492	1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	silent	30.00	48	21	SNP	1.000	A	A	100369492	G	A	100369492	1	1	94	0	1	0	0	0	0	0	0	0	17562	1335	47	3		3	ZAN	7	100369492	RNA	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1061076	100369492	58769171	106	27021											
MOGAT3	346606	genome.wustl.edu	37	chr7	100843572	100843572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggttccttatccactcCgaacgccttccacctgcgga	6	9	8	18	4	0	0	0	0	0	0	4	2	4	1	7	2	2	1	7	2	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:100843572C>T	ENST00000223114.4	-	3	397	c.231G>A	c.(229-231)tcG>tcA	p.S77S	MOGAT3_ENST00000440203.2_Silent_p.S77S|MOGAT3_ENST00000379423.3_Silent_p.S77S	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	77					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TTATCCACTCCGAACGCCTTC	0.567																																																	0													177	171	173					7																	100843572		2203	4300	6503	SO:0001819	synonymous_variant	0			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.231G>A	7.37:g.100843572C>T			Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	pfam_DAGAT	p.S77	ENST00000223114.4	37	c.231	CCDS5714.1	7																																																																																			MOGAT3	-	pfam_DAGAT	ENSG00000106384		0.567	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT3	HGNC	protein_coding	OTTHUMT00000059649.3	-	0	35	0	C	NM_178176		100843572	-1	tier1	-	no_errors	ENST00000440203	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.000	T	T	100843572	C	T	100843572	2	4	94	1	0	0	0	0	0	0	0	1	9734	639	23	1		1	MOGAT3	7	100843572	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	474080	100843572	58295091	107	27022											
POT1	25913	genome.wustl.edu	37	chr7	124503425	124503425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagaaatgatgctccGtccacttctgctttgcccaa	10	13	7	11	1	1	3	0	1	1	2	3	3	3	3	3	0	3	2	3	0	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:124503425G>T	ENST00000357628.3	-	8	1123	c.525C>A	c.(523-525)gaC>gaA	p.D175E	POT1_ENST00000393329.1_Missense_Mutation_p.D44E	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	175					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATGATGCTCCGTCCACTTCTG	0.383																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													103	99	100					7																	124503425		2203	4300	6503	SO:0001583	missense	0			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"protection of telomeres 1 homolog (S. pombe)"			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.525C>A	7.37:g.124503425G>T	ENSP00000350249:p.Asp175Glu		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.D175E	ENST00000357628.3	37	c.525	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539091	0.65085	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.51071	0.88;0.72	5.38	1.59	0.23543	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.61337	0.2339	M	0.75264	2.295	0.39918	D	0.974127	D	0.67145	0.996	D	0.69307	0.963	T	0.58142	-0.7688	10	0.34782	T	0.22	-5.0537	9.0101	0.36135	0.7629:0.0:0.2371:0.0	.	175	Q9NUX5	POTE1_HUMAN	E	175;44;175;175;175;174	ENSP00000350249:D175E;ENSP00000377002:D44E	ENSP00000265391:D174E	D	-	3	2	POT1	124290661	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	1.110000	0.31147	0.052000	0.16007	-1.068000	0.02270	GAC	POT1	-	superfamily_NA-bd_OB-fold	ENSG00000128513		0.383	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1		0	18	0	G			124503425	-1			no_errors	ENST00000357628	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	124503425	G	T	124503425	3	4	94	1	0	0	0	0	1	0	0	0	12299	1136	40	2	1427	2	POT1	7	124503425	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	23659853	124503425	34635238	108	27023											
PAX4	5078	genome.wustl.edu	37	chr7	127251732	127251733	+	Splice_Site	INS	-	-	A																															cacactgccaggggactgctINSaaaaaaaaaaagcaagagaa																								rs35434068|rs375404897|rs386411245		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:127251732_127251733insA	ENST00000341640.2	-	8	953		c.e8-2		PAX4_ENST00000338516.3_Splice_Site|PAX4_ENST00000463946.1_Splice_Site|PAX4_ENST00000378740.2_Splice_Site	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4						cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGGGACTGCTAAAAAAAAAAA	0.569																																					Ovarian(113;737 1605 7858 27720 34092)												0																																										SO:0001630	splice_region_variant	0				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.748-2->T	7.37:g.127251743_127251743dupA			O95161|Q6B0H0	Splice_Site	INS	-	e8-2	ENST00000341640.2	37	c.748-3_748-2	CCDS5797.1	7																																																																																			PAX4	-	-	ENSG00000106331		0.569	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1		0	16	0	-		Intron	127251733	-1	tier1		no_errors	ENST00000341640	ensembl	human	known	74_37	splice_site_ins	21.05	15	4	INS	0.745:0.624	A	A	127251733	-	A	127251732	8	5	94	1	0	1	1	0	0	0	1	0	11520	1536	53	0	293	0	PAX4	7	127251732	Splice_Site	INS	-	TCGA-L5-A8NV-01A-11D-A37C-09	2748307	127251732	31886931	109	27024											
PAX4	5078	genome.wustl.edu	37	chr7	127255001	127255001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggatttcccaggcaaagAgggctggacactcacccttc	9	9	11	12	0	1	1	1	0	0	1	3	3	2	3	2	4	0	3	2	4	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:127255001A>G	ENST00000341640.2	-	2	474	c.269T>C	c.(268-270)cTc>cCc	p.L90P	PAX4_ENST00000338516.3_Missense_Mutation_p.L98P|PAX4_ENST00000463946.1_Missense_Mutation_p.L88P|PAX4_ENST00000378740.2_Missense_Mutation_p.L90P	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	98	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGGCAAAGAGGGCTGGACA	0.602																																					Ovarian(113;737 1605 7858 27720 34092)												0													67	62	64					7																	127255001		2203	4300	6503	SO:0001583	missense	0				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"Paired boxes", "Homeoboxes / PRD class"	8618	protein-coding gene	gene with protein product		167413	"paired box gene 4"				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.269T>C	7.37:g.127255001A>G	ENSP00000339906:p.Leu90Pro		O95161|Q6B0H0	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom	p.L90P	ENST00000341640.2	37	c.269	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213052	0.79352	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99494	-6.01;-6.01;-6.01	5.63	5.63	0.86233	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.132950	0.50627	D	0.000117	D	0.99190	0.9719	L	0.52573	1.65	0.80722	D	1	D;D;D;D	0.76494	0.991;0.997;0.985;0.999	P;D;D;D	0.68192	0.891;0.952;0.956;0.95	D	0.99342	1.0912	10	0.87932	D	0	.	13.7833	0.63094	1.0:0.0:0.0:0.0	.	90;88;98;88	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	P	90;98;98;88	ENSP00000339906:L90P;ENSP00000344297:L98P;ENSP00000451923:L88P	ENSP00000344297:L98P	L	-	2	0	PAX4	127042237	1.000000	0.71417	0.768000	0.31515	0.787000	0.44495	9.173000	0.94815	2.130000	0.65690	0.533000	0.62120	CTC	PAX4	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom	ENSG00000106331		0.602	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1		0	24	0	A			127255001	-1			no_errors	ENST00000341640	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G	G	127255001	A	G	127255001	3	3	94	1	0	0	0	0	1	0	0	0	11520	304	11	4	794	4	PAX4	7	127255001	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	3269	127255001	31883662	110	27025											
FLNC	2318	genome.wustl.edu	37	chr7	128488921	128488921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactgtgtcctacctgccGgacatgagtggccggtacac	8	9	11	13	2	0	1	0	1	0	0	1	2	1	2	4	3	4	1	4	3	3	3	rs553400393		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:128488921G>A	ENST00000325888.8	+	28	5073	c.4812G>A	c.(4810-4812)ccG>ccA	p.P1604P	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.P1604P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1604					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTACCTGCCGGACATGAGTG	0.602													G|||	1	0.000199681	0	0	5008	,	,		15186	0		0	False		,,,				2504	0.001																0													107	127	120					7																	128488921		2134	4236	6370	SO:0001819	synonymous_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4812G>A	7.37:g.128488921G>A			B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P1604	ENST00000325888.8	37	c.4812	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	-	0	14	0	G			128488921	1	tier1	-	no_errors	ENST00000325888	ensembl	human	known	74_37	silent	57.14	12	16	SNP	0.025	A	A	128488921	G	A	128488921	2	1	94	1	0	0	0	0	0	0	0	1	5957	1103	39	1		1	FLNC	7	128488921	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1233920	128488921	30649742	111	27026											
ZC3HC1	51530	genome.wustl.edu	37	chr7	129680892	129680892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgacccagccatattttGcacagacgagtggagacagc	11	8	11	11	1	0	3	0	1	0	2	0	5	0	3	2	1	3	1	2	1	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:129680892G>T	ENST00000358303.4	-	3	392	c.308C>A	c.(307-309)gCa>gAa	p.A103E	ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A82E|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A103E|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A103E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	103					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCCATATTTTGCACAGACGAG	0.413																																					Melanoma(115;540 1606 16325 28853 48167)												0													186	185	185					7																	129680892		2203	4300	6503	SO:0001583	missense	0			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.308C>A	7.37:g.129680892G>T	ENSP00000351052:p.Ala103Glu		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	pfam_Znf_C3HC-like,pfam_NIPA/Rsm1	p.A103E	ENST00000358303.4	37	c.308	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851332	0.91355	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.81163	-0.72;-1.36;-0.77;-1.46	5.9	5.02	0.67125	Zinc finger, C3HC-like (1);	0.000000	0.85682	D	0.000000	D	0.89849	0.6834	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91242	0.5022	10	0.87932	D	0	-16.7531	13.9123	0.63876	0.0736:0.0:0.9264:0.0	.	103	Q86WB0	NIPA_HUMAN	E	103;103;82;103;103	ENSP00000351052:A103E;ENSP00000353933:A103E;ENSP00000309301:A82E;ENSP00000418533:A103E	ENSP00000309301:A82E	A	-	2	0	ZC3HC1	129468128	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.932000	0.92897	1.497000	0.48584	0.563000	0.77884	GCA	ZC3HC1	-	pfam_Znf_C3HC-like	ENSG00000091732		0.413	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	HGNC	protein_coding	OTTHUMT00000349316.1	-	0	69	0	G	NM_016478		129680892	-1	tier1	-	no_errors	ENST00000358303	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	129680892	G	T	129680892	3	4	94	1	0	0	0	0	1	0	0	0	17625	1319	46	3	1232	3	ZC3HC1	7	129680892	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1191971	129680892	29457771	112	27027											
TSGA13	114960	genome.wustl.edu	37	chr7	130353927	130353927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgctctccccgggcGcggttctggtgggcatgtct	3	9	17	12	4	3	0	0	0	3	0	4	1	3	1	2	6	0	3	2	6	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:130353927G>A	ENST00000456951.1	-	9	1606	c.755C>T	c.(754-756)gCg>gTg	p.A252V	TSGA13_ENST00000356588.3_Missense_Mutation_p.A252V|COPG2_ENST00000445977.2_5'Flank			Q96PP4	TSG13_HUMAN	testis specific, 13	252										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CTCCCCGGGCGCGGTTCTGGT	0.592																																																	0													101	104	103					7																	130353927		2203	4300	6503	SO:0001583	missense	0			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.755C>T	7.37:g.130353927G>A	ENSP00000406047:p.Ala252Val		B3KSC9	Missense_Mutation	SNP	NULL	p.A252V	ENST00000456951.1	37	c.755	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	G	7.436	0.639631	0.14386	.	.	ENSG00000213265	ENST00000456951;ENST00000356588	.	.	.	5.51	-3.55	0.04639	.	1.069840	0.07322	N	0.877778	T	0.18299	0.0439	N	0.08118	0	0.09310	N	1	B	0.22983	0.078	B	0.13407	0.009	T	0.35699	-0.9778	9	0.02654	T	1	0.0064	11.9008	0.52682	0.7462:0.0:0.2538:0.0	.	252	Q96PP4	TSG13_HUMAN	V	252	.	ENSP00000348996:A252V	A	-	2	0	TSGA13	130004467	0.030000	0.19436	0.000000	0.03702	0.116000	0.19942	-0.018000	0.12568	-0.915000	0.03823	-0.291000	0.09656	GCG	TSGA13	-	NULL	ENSG00000213265		0.592	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	HGNC	protein_coding	OTTHUMT00000337997.1	-	0	64	0	G	NM_052933		130353927	-1	tier1	-	no_errors	ENST00000356588	ensembl	human	known	74_37	missense	8.47	53	5	SNP	0.008	A	A	130353927	G	A	130353927	3	1	94	1	0	0	0	0	1	0	0	0	16667	1087	38	1	76	1	TSGA13	7	130353927	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	673035	130353927	28784736	113	27028											
RBM33	155435	genome.wustl.edu	37	chr7	155532610	155532610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accacctgtccgtcccgcccCctcctttgatgccgatgtct	4	11	7	19	3	1	1	0	1	1	0	4	2	4	1	8	0	1	0	8	0	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr7:155532610C>T	ENST00000401878.3	+	12	2137	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	647	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTCCCGCCCCCTCCTTTGAT	0.711																																																	0													20	22	21					7																	155532610		2159	4211	6370	SO:0001583	missense	0			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"RNA binding motif (RRM) containing"	27223	protein-coding gene	gene with protein product			"proline rich 8"	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1939C>T	7.37:g.155532610C>T	ENSP00000384160:p.Pro647Ser		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.P647S	ENST00000401878.3	37	c.1939	CCDS5941.2	7	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822101	0.50739	.	.	ENSG00000184863	ENST00000401878	T	0.45668	0.89	5.13	5.13	0.70059	.	0.106867	0.41938	D	0.000782	T	0.39545	0.1082	L	0.56769	1.78	0.80722	D	1	P;P	0.44139	0.827;0.827	B;B	0.41510	0.359;0.359	T	0.31308	-0.9948	10	0.06891	T	0.86	.	16.7597	0.85508	0.0:1.0:0.0:0.0	.	364;647	B4DVQ2;Q96EV2	.;RBM33_HUMAN	S	647	ENSP00000384160:P647S	ENSP00000384160:P647S	P	+	1	0	RBM33	155225371	0.998000	0.40836	0.924000	0.36721	0.770000	0.43624	4.875000	0.63072	2.393000	0.81446	0.467000	0.42956	CCT	RBM33	-	NULL	ENSG00000184863		0.711	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	-	0	37	0	C	NM_001008408		155532610	1	tier1	-	no_errors	ENST00000401878	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.992	T	T	155532610	C	T	155532610	3	4	94	1	0	0	0	0	1	0	0	0	13175	623	22	3	1985	3	RBM33	7	155532610	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	25178683	155532610	3606053	114	27029											
SGCZ	137868	genome.wustl.edu	37	chr8	13947970	13947970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagctccacaggcagatGttgctactggactgacaagt	10	10	10	11	0	1	2	1	1	0	1	2	3	2	3	1	2	3	4	1	2	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr8:13947970G>T	ENST00000382080.1	-	8	1636	c.921C>A	c.(919-921)aaC>aaA	p.N307K	SGCZ_ENST00000421524.2_Missense_Mutation_p.N260K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	294					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACAGGCAGATGTTGCTACTGG	0.493																																																	0													181	167	172					8																	13947970		2203	4300	6503	SO:0001583	missense	0			AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.921C>A	8.37:g.13947970G>T	ENSP00000371512:p.Asn307Lys		Q6REU0	Missense_Mutation	SNP	pfam_Sarcoglycan	p.N307K	ENST00000382080.1	37	c.921	CCDS5992.2	8	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892218	0.33442	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	T;T	0.10763	2.84;2.84	5.5	5.5	0.81552	.	0.368863	0.35805	N	0.002970	T	0.11879	0.0289	L	0.53249	1.67	0.25229	N	0.989848	B;B	0.30634	0.084;0.288	B;B	0.32533	0.07;0.147	T	0.22941	-1.0202	10	0.15066	T	0.55	.	12.131	0.53942	0.0781:0.0:0.9219:0.0	.	260;307	Q08AT0;Q96LD1-2	.;.	K	307;260	ENSP00000371512:N307K;ENSP00000405224:N260K	ENSP00000371512:N307K	N	-	3	2	SGCZ	13992341	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.963000	0.56773	2.760000	0.94817	0.655000	0.94253	AAC	SGCZ	-	NULL	ENSG00000185053		0.493	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SGCZ	HGNC	protein_coding	OTTHUMT00000207636.2	-	0	44	0	G	NM_139167		13947970	-1	tier1	-	no_errors	ENST00000382080	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.999	T	T	13947970	G	T	13947970	3	4	94	1	0	0	0	0	1	0	0	0	14249	1368	48	3	21	3	SGCZ	8	13947970	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		13947970	132416052	115	27030											
HMBOX1	79618	genome.wustl.edu	37	chr8	28876382	28876382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtactttccgactgcgacGagggagtcgatttacctgga	8	11	13	9	4	0	0	0	0	0	0	2	6	1	2	2	3	3	1	2	3	2	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr8:28876382G>T	ENST00000397358.3	+	7	1507	c.803G>T	c.(802-804)cGa>cTa	p.R268L	HMBOX1_ENST00000444075.1_Missense_Mutation_p.R268L|HMBOX1_ENST00000355231.5_Missense_Mutation_p.R268L|HMBOX1_ENST00000558662.1_Missense_Mutation_p.R268L|HMBOX1_ENST00000524238.1_Missense_Mutation_p.R268L|HMBOX1_ENST00000519047.1_Missense_Mutation_p.R268L|HMBOX1_ENST00000523613.1_Missense_Mutation_p.R268L|HMBOX1_ENST00000403668.2_Missense_Mutation_p.R268L|HMBOX1_ENST00000287701.10_Missense_Mutation_p.R268L	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	268					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R268Q(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		CGACTGCGACGAGGGAGTCGA	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											134	118	124					8																	28876382		2203	4300	6503	SO:0001583	missense	0			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"Homeoboxes / HNF class"	26137	protein-coding gene	gene with protein product	"homeobox telomere-binding protein 1"					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.803G>T	8.37:g.28876382G>T	ENSP00000380516:p.Arg268Leu		A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R268L	ENST00000397358.3	37	c.803	CCDS6071.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.618184	0.96649	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	D;D;D;D;D;D	0.99888	-4.14;-4.14;-7.54;-4.14;-4.14;-4.14	5.79	5.79	0.91817	Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99924	0.9965	H	0.95365	3.66	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.994;1.0	D;D;D;D;D;D	0.91635	0.999;0.997;0.999;0.998;0.982;0.999	D	0.96365	0.9269	10	0.87932	D	0	-6.5205	20.024	0.97514	0.0:0.0:1.0:0.0	.	268;268;268;268;268;268	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	L	268	ENSP00000287701:R268L;ENSP00000401769:R268L;ENSP00000384261:R268L;ENSP00000430059:R268L;ENSP00000380516:R268L;ENSP00000430110:R268L	ENSP00000287701:R268L	R	+	2	0	HMBOX1	28932301	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.476000	0.97823	2.718000	0.92993	0.655000	0.94253	CGA	HMBOX1	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000147421		0.498	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4		0	57	0	G	NM_024567		28876382	1			no_errors	ENST00000444075	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	28876382	G	T	28876382	3	4	94	1	0	0	0	0	1	0	0	0	7245	1058	37	2	821	2	HMBOX1	8	28876382	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	14928412	28876382	117487640	116	27031											
FGFR1	2260	genome.wustl.edu	37	chr8	38285889	38285889	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtttggtttggtgttatcTgtttctttctcctctgaaga	4	20	10	7	1	4	2	0	1	4	1	5	2	4	2	1	3	0	4	1	3	2	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr8:38285889T>A	ENST00000447712.2	-	4	1364	c.423A>T	c.(421-423)acA>acT	p.T141T	FGFR1_ENST00000397108.4_Silent_p.T141T|FGFR1_ENST00000356207.5_Silent_p.T52T|FGFR1_ENST00000425967.3_Silent_p.T174T|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000326324.6_Silent_p.T52T|FGFR1_ENST00000335922.5_Silent_p.T133T|FGFR1_ENST00000341462.5_Silent_p.T144T|FGFR1_ENST00000532791.1_Silent_p.T141T|FGFR1_ENST00000397103.1_Silent_p.T52T|FGFR1_ENST00000397113.2_Silent_p.T141T|FGFR1_ENST00000397091.5_Silent_p.T141T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	141					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGGTGTTATCTGTTTCTTTCT	0.498		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													235	240	239					8																	38285889		1988	4167	6155	SO:0001819	synonymous_variant	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3688	protein-coding gene	gene with protein product	"Pfeiffer syndrome"	136350	"fms-related tyrosine kinase 2"	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.423A>T	8.37:g.38285889T>A			A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T174	ENST00000447712.2	37	c.522	CCDS6107.2	8																																																																																			FGFR1	-	pirsf_FGF_rcpt_fam	ENSG00000077782		0.498	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding			0	78	0	T			38285889	-1			no_errors	ENST00000425967	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.994	A	A	38285889	T	A	38285889	2	1	94	1	0	0	0	0	0	0	0	1	5885	1567	55	5		5	FGFR1	8	38285889	Silent	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	9409507	38285889	108078133	117	27032											
HTRA4	203100	genome.wustl.edu	37	chr8	38840024	38840024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcctttccaggaaaggcGttttcaaataagaaatatct	13	14	6	8	1	2	1	1	0	1	1	4	2	4	2	2	2	0	1	2	2	5	6	rs551752587		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr8:38840024G>A	ENST00000302495.4	+	7	1222	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	374					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.A374A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CAGGAAAGGCGTTTTCAAATA	0.423													G|||	1	0.000199681	0	0	5008	,	,		21989	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	central_nervous_system(1)											155	153	154					8																	38840024		2203	4300	6503	SO:0001819	synonymous_variant	0			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1122G>A	8.37:g.38840024G>A			Q542Z4|Q6PF13	Silent	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.A374	ENST00000302495.4	37	c.1122	CCDS6110.1	8																																																																																			HTRA4	-	NULL	ENSG00000169495		0.423	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA4	HGNC	protein_coding	OTTHUMT00000377077.1		0	34	0	G	NM_153692		38840024	1			no_errors	ENST00000302495	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.245	A	A	38840024	G	A	38840024	2	1	94	1	0	0	0	0	0	0	0	1	7483	1132	40	1		1	HTRA4	8	38840024	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	554135	38840024	107523998	118	27033											
LACTB2	51110	genome.wustl.edu	37	chr8	71574044	71574044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtcactacaatttcctGgattgctgtgttaaattcag	10	15	9	7	0	2	1	2	1	0	0	3	2	3	2	1	1	2	2	1	1	4	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr8:71574044G>T	ENST00000276590.4	-	2	247	c.211C>A	c.(211-213)Cag>Aag	p.Q71K	RP11-382J12.1_ENST00000499227.2_3'UTR|LACTB2_ENST00000522447.1_Missense_Mutation_p.Q71K	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	71						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACAATTTCCTGGATTGCTGTG	0.378																																																	0													214	192	199					8																	71574044		2203	4300	6503	SO:0001583	missense	0			AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.211C>A	8.37:g.71574044G>T	ENSP00000276590:p.Gln71Lys		A8K2D6|Q9Y392	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.Q71K	ENST00000276590.4	37	c.211	CCDS6208.1	8	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647768	0.67358	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.77229	-1.08;-1.08	5.77	5.77	0.91146	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	T	0.81049	0.4742	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.76113	-0.3078	10	0.21014	T	0.42	-11.6196	19.9983	0.97395	0.0:0.0:1.0:0.0	.	71	Q53H82	LACB2_HUMAN	K	71	ENSP00000428801:Q71K;ENSP00000276590:Q71K	ENSP00000276590:Q71K	Q	-	1	0	LACTB2	71736598	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.514000	0.81750	2.724000	0.93272	0.561000	0.74099	CAG	LACTB2	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000147592		0.378	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB2	HGNC	protein_coding	OTTHUMT00000378748.1	-	0	53	0	G	NM_016027		71574044	-1	tier1	-	no_errors	ENST00000276590	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	71574044	G	T	71574044	3	4	94	1	0	0	0	0	1	0	0	0	8626	1357	47	3	679	3	LACTB2	8	71574044	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	32734020	71574044	74789978	119	27034											
ATAD2	29028	genome.wustl.edu	37	chr8	124346560	124346560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctatgcctaataagacGatctatgaagtgagtaaaaa	16	10	9	6	1	2	3	0	2	2	1	2	4	2	3	1	1	1	2	1	1	8	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr8:124346560G>T	ENST00000287394.5	-	23	3321	c.3214C>A	c.(3214-3216)Cgt>Agt	p.R1072S	ATAD2_ENST00000521903.1_Missense_Mutation_p.R390S	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1072					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTAATAAGACGATCTATGAAG	0.323																																																	0													44	43	43					8																	124346560		2201	4299	6500	SO:0001583	missense	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"ATPases / AAA-type"	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3214C>A	8.37:g.124346560G>T	ENSP00000287394:p.Arg1072Ser		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R1072S	ENST00000287394.5	37	c.3214	CCDS6343.1	8	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813471	0.90790	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.11821	2.74;2.74	6.07	6.07	0.98685	Bromodomain (3);	0.096714	0.64402	D	0.000001	T	0.42200	0.1192	M	0.77103	2.36	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.08659	-1.0711	10	0.56958	D	0.05	-15.089	20.6593	0.99626	0.0:0.0:1.0:0.0	.	1072	Q6PL18	ATAD2_HUMAN	S	1072;390	ENSP00000287394:R1072S;ENSP00000429213:R390S	ENSP00000287394:R1072S	R	-	1	0	ATAD2	124415741	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	CGT	ATAD2	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000156802		0.323	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0	98	0	G	NM_014109		124346560	-1			no_errors	ENST00000287394	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	124346560	G	T	124346560	3	4	94	1	0	0	0	0	1	0	0	0	1072	1058	37	2	982	2	ATAD2	8	124346560	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	52772516	124346560	22017462	120	27035											
PTPRD	5789	genome.wustl.edu	37	chr9	8518133	8518133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggacatccctcggggCactggatggtgcttgctctg	4	11	14	12	1	1	0	0	0	1	0	3	2	2	2	2	5	3	3	2	5	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:8518133C>A	ENST00000381196.4	-	18	1801	c.1258G>T	c.(1258-1260)Gcc>Tcc	p.A420S	PTPRD_ENST00000537002.1_Missense_Mutation_p.A417S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A407S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A407S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A420S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A410S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A420S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A420S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A420S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A410S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A417S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	420	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCCTCGGGGCACTGGATGGT	0.512										TSP Lung(15;0.13)																																							0													163	156	158					9																	8518133		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1258G>T	9.37:g.8518133C>A	ENSP00000370593:p.Ala420Ser		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.A420S	ENST00000381196.4	37	c.1258	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094197	0.56075	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055637	0.64402	D	0.000001	T	0.77370	0.4120	L	0.47078	1.49	0.54753	D	0.999981	P;P;P;P;B;P;P;P;P	0.49253	0.921;0.868;0.866;0.755;0.041;0.712;0.828;0.744;0.881	P;P;P;P;B;P;P;P;P	0.61328	0.887;0.808;0.666;0.566;0.059;0.637;0.527;0.626;0.517	T	0.75445	-0.3315	9	.	.	.	.	14.5752	0.68240	0.0:0.854:0.146:0.0	.	410;414;420;420;417;417;407;420;420	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	S	420;420;407;407;420;410;417;417;420;420;420;410	ENSP00000370593:A420S;ENSP00000348812:A420S;ENSP00000353187:A407S;ENSP00000351293:A407S;ENSP00000347373:A420S;ENSP00000380741:A410S;ENSP00000380735:A417S;ENSP00000440515:A417S;ENSP00000438164:A420S;ENSP00000417093:A420S;ENSP00000380731:A410S	.	A	-	1	0	PTPRD	8508133	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	5.960000	0.70348	2.484000	0.83849	0.467000	0.42956	GCC	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.512	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0	23	0	C			8518133	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	A	A	8518133	C	A	8518133	3	1	94	1	0	0	0	0	1	0	0	0	12844	710	25	3	4652	3	PTPRD	9	8518133	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09		8518133	132695298	121	27036											
FREM1	158326	genome.wustl.edu	37	chr9	14851595	14851595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatatagacaggcagccacGcactctctgacttttgaagg	11	10	10	10	1	1	4	0	3	1	1	2	4	1	4	1	2	1	2	1	2	3	4	rs369523355		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:14851595G>A	ENST00000380880.3	-	6	1622	c.839C>T	c.(838-840)gCg>gTg	p.A280V	FREM1_ENST00000422223.2_Missense_Mutation_p.A280V|FREM1_ENST00000380881.4_Missense_Mutation_p.A281V|RNU6-1260P_ENST00000362944.1_RNA			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	280					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCAGCCACGCACTCTCTGA	0.403																																																	0								G	VAL/ALA	1,3805		0,1,1902	91	89	90		839	1.7	0.9	9		90	0,8266		0,0,4133	no	missense	FREM1	NM_144966.5	64	0,1,6035	AA,AG,GG		0.0,0.0263,0.0083	benign	280/2180	14851595	1,12071	1903	4133	6036	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.839C>T	9.37:g.14851595G>A	ENSP00000370262:p.Ala280Val		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.A281V	ENST00000380880.3	37	c.842	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	6.276	0.419033	0.11870	2.63E-4	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.09817	2.94;2.94;2.94	6.11	1.71	0.24356	.	0.355223	0.35040	N	0.003488	T	0.09202	0.0227	L	0.47716	1.5	0.24986	N	0.99157	B	0.12630	0.006	B	0.06405	0.002	T	0.36359	-0.9751	10	0.13470	T	0.59	-4.316	11.7012	0.51571	0.3324:0.0:0.6676:0.0	.	280	Q5H8C1	FREM1_HUMAN	V	281;280;280	ENSP00000370263:A281V;ENSP00000412940:A280V;ENSP00000370262:A280V	ENSP00000370257:A283V	A	-	2	0	FREM1	14841595	0.869000	0.29996	0.884000	0.34674	0.936000	0.57629	1.707000	0.37888	0.455000	0.26910	0.655000	0.94253	GCG	FREM1	-	NULL	ENSG00000164946		0.403	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2		0	27	0	G	NM_144966		14851595	-1			no_errors	ENST00000380881	ensembl	human	known	74_37	missense	5.56	33	2	SNP	0.357	A	A	14851595	G	A	14851595	3	1	94	1	0	0	0	0	1	0	0	0	6068	1087	38	1	5878	1	FREM1	9	14851595	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	6333462	14851595	126361836	122	27037											
TTC39B	158219	genome.wustl.edu	37	chr9	15307094	15307094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtacctcgtccgcttcCagctccgctcggctgcctaa	5	10	9	17	5	0	0	0	0	0	0	6	1	3	0	5	1	3	5	5	1	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:15307094C>T	ENST00000512701.2	-	1	264	c.228G>A	c.(226-228)ctG>ctA	p.L76L	TTC39B_ENST00000380850.4_Silent_p.L76L|TTC39B_ENST00000541445.1_Silent_p.L10L|TTC39B_ENST00000355694.2_Silent_p.L10L|TTC39B_ENST00000297615.5_Silent_p.L76L			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	76										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CGTCCGCTTCCAGCTCCGCTC	0.647																																																	0													28	23	25					9																	15307094		2202	4299	6501	SO:0001819	synonymous_variant	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"Tetratricopeptide (TTC) repeat domain containing"	23704	protein-coding gene	gene with protein product		613574	"chromosome 9 open reading frame 52"	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.228G>A	9.37:g.15307094C>T			A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.L76	ENST00000512701.2	37	c.228	CCDS6477.2	9																																																																																			TTC39B	-	NULL	ENSG00000155158		0.647	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	-	0	64	0	C	NM_152574		15307094	-1	tier1	-	no_errors	ENST00000512701	ensembl	human	known	74_37	silent	25.00	30	10	SNP	0.994	T	T	15307094	C	T	15307094	2	4	94	1	0	0	0	0	0	0	0	1	16757	581	21	3		3	TTC39B	9	15307094	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	455499	15307094	125906337	123	27038											
ELAVL2	1993	genome.wustl.edu	37	chr9	23692817	23692817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaatatacaccaccctgttCcagggtgcccagggatatta	12	9	8	12	0	0	0	0	0	0	0	1	1	1	1	4	2	2	1	4	2	5	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:23692817C>T	ENST00000397312.2	-	7	1092	c.818G>A	c.(817-819)gGa>gAa	p.G273E	ELAVL2_ENST00000380110.4_Missense_Mutation_p.G303E|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G273E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G260E|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G273E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	273					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCACCCTGTTCCAGGGTGCCC	0.463																																																	0													82	78	79					9																	23692817		2203	4300	6503	SO:0001583	missense	0			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"RNA binding motif (RRM) containing"	3313	protein-coding gene	gene with protein product	"Hu antigen B"	601673	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.818G>A	9.37:g.23692817C>T	ENSP00000380479:p.Gly273Glu		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.G273E	ENST00000397312.2	37	c.818	CCDS6515.1	9	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740637	0.69304	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.05717	3.4;3.4;3.4;3.4	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	M	0.73217	2.22	0.80722	D	1	B;B	0.32425	0.255;0.371	B;B	0.35813	0.071;0.211	T	0.00834	-1.1547	10	0.87932	D	0	.	20.0688	0.97709	0.0:1.0:0.0:0.0	.	273;260	Q12926;Q12926-2	ELAV2_HUMAN;.	E	260;273;273;260;273;301	ENSP00000223951:G260E;ENSP00000380479:G273E;ENSP00000440998:G273E;ENSP00000369460:G273E	ENSP00000223951:G260E	G	-	2	0	ELAVL2	23682817	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.468000	0.80943	2.751000	0.94390	0.555000	0.69702	GGA	ELAVL2	-	tigrfam_ELAD_HUD_SF	ENSG00000107105		0.463	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0	11	0	C	NM_004432		23692817	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	T	T	23692817	C	T	23692817	3	4	94	1	0	0	0	0	1	0	0	0	5066	855	30	3	265	3	ELAVL2	9	23692817	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	8385723	23692817	117520614	124	27039											
FLJ46321	389763	genome.wustl.edu	37	chr9	84608354	84608354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatcgtcctcaccctgtctCctcacctgtcgtccaagaag	7	11	7	16	2	3	2	2	1	1	1	8	2	5	2	5	0	0	0	5	0	2	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:84608354C>A	ENST00000344803.2	+	4	3016	c.2969C>A	c.(2968-2970)tCc>tAc	p.S990Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	990					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.S990Y(2)									CACCCTGTCTCCTCACCTGTC	0.502																																																	2	Substitution - Missense(2)	lung(2)											140	143	142					9																	84608354		1951	4146	6097	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2969C>A	9.37:g.84608354C>A	ENSP00000341988:p.Ser990Tyr			Missense_Mutation	SNP	NULL	p.S990Y	ENST00000344803.2	37	c.2969	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	4.448	0.082879	0.08533	.	.	ENSG00000214929	ENST00000344803	T	0.06371	3.31	2.45	-0.636	0.11508	.	.	.	.	.	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.61592	0.891	T	0.36089	-0.9762	9	0.72032	D	0.01	.	5.2446	0.15490	0.0:0.5394:0.0:0.4606	.	990	Q6ZQQ2	F75D1_HUMAN	Y	990	ENSP00000341988:S990Y	ENSP00000341988:S990Y	S	+	2	0	FAM75D1	83798174	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	0.138000	0.16016	-0.122000	0.11766	-0.300000	0.09419	TCC	SPATA31D1	-	NULL	ENSG00000214929		0.502	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	100	0	C	NM_001001670		84608354	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	36.84	60	35	SNP	0.006	A	A	84608354	C	A	84608354	3	1	94	1	0	0	0	0	1	0	0	0	5954	855	30	3	2983	3	FLJ46321	9	84608354	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	60915537	84608354	56605077	125	27040											
ROR2	4920	genome.wustl.edu	37	chr9	94519695	94519695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttccggatgatgatccGccgcggctcctgcaccaccg	5	9	11	16	5	1	2	0	2	1	0	4	3	4	3	6	2	1	2	6	2	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:94519695G>A	ENST00000375708.3	-	3	520	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	108	Ig-like C2-type.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGATGATCCGCCGCGGCTCC	0.592																																																	0													153	136	142					9																	94519695		2203	4300	6503	SO:0001583	missense	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"Immunoglobulin superfamily / I-set domain containing"	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.322C>T	9.37:g.94519695G>A	ENSP00000364860:p.Arg108Trp		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R108W	ENST00000375708.3	37	c.322	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692698	0.68271	.	.	ENSG00000169071	ENST00000375708	T	0.70749	-0.51	5.04	3.01	0.34805	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39407	N	0.001370	D	0.85588	0.5731	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88760	0.3256	10	0.87932	D	0	.	13.3566	0.60631	0.0:0.0:0.558:0.442	.	108;108	A1L4F5;Q01974	.;ROR2_HUMAN	W	108	ENSP00000364860:R108W	ENSP00000364860:R108W	R	-	1	2	ROR2	93559516	0.980000	0.34600	0.092000	0.20876	0.757000	0.42996	2.537000	0.45702	1.424000	0.47217	0.655000	0.94253	CGG	ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000169071		0.592	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1		0	47	0	G			94519695	-1			no_errors	ENST00000375708	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.808	A	A	94519695	G	A	94519695	3	1	94	1	0	0	0	0	1	0	0	0	13572	1086	38	1	2537	1	ROR2	9	94519695	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	9911341	94519695	46693736	126	27041											
TDRD7	23424	genome.wustl.edu	37	chr9	100222868	100222868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcagggcaagcacatGgtgataatgatatcaaggct	14	8	13	6	0	1	2	1	2	0	0	1	3	1	3	0	4	2	4	0	4	4	2	rs566332281		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:100222868G>A	ENST00000355295.4	+	7	1559	c.1264G>A	c.(1264-1266)Ggt>Agt	p.G422S	TDRD7_ENST00000422139.2_Missense_Mutation_p.G348S	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	422					germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.G422C(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GCAAGCACATGGTGATAATGA	0.418													G|||	1	0.000199681	0	0.0014	5008	,	,		21629	0		0	False		,,,				2504	0																1	Substitution - Missense(1)	lung(1)											96	91	93					9																	100222868		2203	4300	6503	SO:0001583	missense	0			AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"Tudor domain containing"	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1264G>A	9.37:g.100222868G>A	ENSP00000347444:p.Gly422Ser		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.G422S	ENST00000355295.4	37	c.1264	CCDS6725.1	9	.	.	.	.	.	.	.	.	.	.	G	0.197	-1.048000	0.01981	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.10382	2.88;2.88	5.49	3.6	0.41247	.	0.903587	0.09978	N	0.731378	T	0.07098	0.0180	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35251	-0.9796	10	0.09084	T	0.74	-7.5341	10.5474	0.45068	0.2135:0.0:0.7865:0.0	.	422	Q8NHU6	TDRD7_HUMAN	S	422;348	ENSP00000347444:G422S;ENSP00000413608:G348S	ENSP00000347444:G422S	G	+	1	0	TDRD7	99262689	0.034000	0.19679	0.065000	0.19835	0.198000	0.23893	2.334000	0.43920	1.425000	0.47237	0.655000	0.94253	GGT	TDRD7	-	NULL	ENSG00000196116		0.418	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD7	HGNC	protein_coding	OTTHUMT00000053322.1		0	46	0	G	NM_014290		100222868	1			no_errors	ENST00000355295	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.000	A	A	100222868	G	A	100222868	3	1	94	1	0	0	0	0	1	0	0	0	15782	1348	47	3	1286	3	TDRD7	9	100222868	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	5703173	100222868	40990563	127	27042											
GRIN3A	116443	genome.wustl.edu	37	chr9	104449448	104449448	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcatcagaacttaatGaattttctaaactcagttgt	14	14	5	8	0	4	2	3	1	1	1	4	2	4	2	0	0	3	2	0	0	5	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:104449448G>T	ENST00000361820.3	-	2	1334	c.734C>A	c.(733-735)tCa>tAa	p.S245*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	245					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGAACTTAATGAATTTTCTAA	0.383																																																	0													77	77	77					9																	104449448		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.734C>A	9.37:g.104449448G>T	ENSP00000355155:p.Ser245*		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Nonsense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.S245*	ENST00000361820.3	37	c.734	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	43	9.971429	0.99308	.	.	ENSG00000198785	ENST00000361820	.	.	.	5.69	5.69	0.88448	.	1.199680	0.05801	N	0.612250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	.	.	.	X	245	.	ENSP00000355155:S245X	S	-	2	0	GRIN3A	103489269	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.702000	0.91338	2.690000	0.91761	0.455000	0.32223	TCA	GRIN3A	-	superfamily_Peripla_BP_I	ENSG00000198785		0.383	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1		0	32	0	G			104449448	-1			no_errors	ENST00000361820	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	1.000	T	T	104449448	G	T	104449448	4	4	94	1	0	0	0	0	0	1	0	0	6810	1294	45	3	2645	3	GRIN3A	9	104449448	Nonsense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	4226580	104449448	36763983	128	27043											
ABCA1	19	genome.wustl.edu	37	chr9	107646736	107646736	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaagtttccaacaactcCgggagcctccccaggagtcg	10	8	10	13	2	0	0	0	0	0	0	4	2	3	2	5	2	3	2	5	2	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:107646736C>A	ENST00000374736.3	-	4	668	c.274G>T	c.(274-276)Gga>Tga	p.G92*	ABCA1_ENST00000423487.2_Nonsense_Mutation_p.G92*|ABCA1_ENST00000374733.1_Nonsense_Mutation_p.G32*	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	92					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCAACAACTCCGGGAGCCTCC	0.463																																																	0													68	72	71					9																	107646736		2203	4300	6503	SO:0001587	stop_gained	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"ATP binding cassette transporters / subfamily A"	29	protein-coding gene	gene with protein product	"Tangier disease"	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.274G>T	9.37:g.107646736C>A	ENSP00000363868:p.Gly92*		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G92*	ENST00000374736.3	37	c.274	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	C	40	7.931217	0.98568	.	.	ENSG00000165029	ENST00000374736;ENST00000423487;ENST00000374733	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5422	0.95278	0.0:1.0:0.0:0.0	.	.	.	.	X	92;92;32	.	ENSP00000363865:G32X	G	-	1	0	ABCA1	106686557	1.000000	0.71417	0.880000	0.34516	0.984000	0.73092	7.724000	0.84798	2.703000	0.92315	0.655000	0.94253	GGA	ABCA1	-	NULL	ENSG00000165029		0.463	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1		0	59	0	C	NM_005502		107646736	-1			no_errors	ENST00000374736	ensembl	human	known	74_37	nonsense	5.63	67	4	SNP	1.000	A	A	107646736	C	A	107646736	4	1	94	1	0	0	0	0	0	1	0	0	28	661	23	2	6699	2	ABCA1	9	107646736	Nonsense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	3197288	107646736	33566695	129	27044											
RGS3	5998	genome.wustl.edu	37	chr9	116259657	116259657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaccaagcacttgaaggtgGccaggcggcgactgcggccg	8	4	17	12	4	0	1	0	1	0	0	0	3	0	2	3	6	2	1	3	6	2	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:116259657G>A	ENST00000374140.2	+	10	1023	c.814G>A	c.(814-816)Gcc>Acc	p.A272T	RGS3_ENST00000317613.6_Missense_Mutation_p.A160T|RGS3_ENST00000350696.5_Missense_Mutation_p.A272T	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	272					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTTGAAGGTGGCCAGGCGGCG	0.627																																																	0													67	61	63					9																	116259657		2203	4300	6503	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"Regulators of G-protein signaling"	9999	protein-coding gene	gene with protein product		602189	"regulator of G-protein signalling 3"			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.814G>A	9.37:g.116259657G>A	ENSP00000363255:p.Ala272Thr		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.A272T	ENST00000374140.2	37	c.814	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.345664	0.95807	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613	T;T;T	0.48201	0.82;0.82;1.2	5.69	5.69	0.88448	.	0.161152	0.40222	N	0.001155	T	0.65749	0.2721	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.77557	0.99;0.983;0.99	T	0.64368	-0.6424	10	0.49607	T	0.09	.	16.9835	0.86335	0.0:0.0:1.0:0.0	.	162;160;272	B3KWG8;P49796-5;P49796	.;.;RGS3_HUMAN	T	272;272;160	ENSP00000363255:A272T;ENSP00000259406:A272T;ENSP00000312844:A160T	ENSP00000312844:A160T	A	+	1	0	RGS3	115299478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.273000	0.58914	2.684000	0.91462	0.650000	0.86243	GCC	RGS3	-	NULL	ENSG00000138835		0.627	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	-	0	66	0	G	NM_017790		116259657	1	tier1	-	no_errors	ENST00000350696	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	A	A	116259657	G	A	116259657	3	1	94	1	0	0	0	0	1	0	0	0	13351	1203	42	3	931	3	RGS3	9	116259657	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	8612921	116259657	24953774	130	27045											
OR1N1	138883	genome.wustl.edu	37	chr9	125289092	125289092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaggacaaccgagccaTgaggaacgtgtgagtcaggg	14	4	15	8	2	1	3	1	2	0	1	1	6	1	5	2	3	3	0	2	3	3	0	rs569728151	byFrequency	TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:125289092T>C	ENST00000304880.2	-	1	480	c.481A>G	c.(481-483)Atg>Gtg	p.M161V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M161V(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AACCGAGCCATGAGGAACGTG	0.517													T|||	3	0.000599042	0	0	5008	,	,		23160	0.003		0	False		,,,				2504	0																1	Substitution - Missense(1)	central_nervous_system(1)											102	84	90					9																	125289092		2203	4300	6503	SO:0001583	missense	0			U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"GPCR / Class A : Olfactory receptors"	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.481A>G	9.37:g.125289092T>C	ENSP00000306974:p.Met161Val		A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M161V	ENST00000304880.2	37	c.481	CCDS6844.1	9	.	.	.	.	.	.	.	.	.	.	T	8.086	0.773469	0.16051	.	.	ENSG00000171505	ENST00000304880	T	0.00058	8.79	3.75	-7.31	0.01441	GPCR, rhodopsin-like superfamily (1);	0.178299	0.26373	U	0.024742	T	0.00039	0.0001	N	0.02697	-0.525	0.09310	N	1	B	0.18166	0.026	B	0.20577	0.03	T	0.40515	-0.9559	10	0.07030	T	0.85	.	9.1007	0.36667	0.0:0.1575:0.5634:0.2791	.	161	Q8NGS0	OR1N1_HUMAN	V	161	ENSP00000306974:M161V	ENSP00000306974:M161V	M	-	1	0	OR1N1	124328913	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.501000	0.00966	-1.071000	0.03145	-0.508000	0.04489	ATG	OR1N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171505		0.517	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N1	HGNC	protein_coding	OTTHUMT00000053938.1	-	0	29	0	T			125289092	-1	tier1	-	no_errors	ENST00000304880	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.000	C	C	125289092	T	C	125289092	3	2	94	1	0	0	0	0	1	0	0	0	11008	1464	51	4	458	4	OR1N1	9	125289092	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	9029435	125289092	15924339	131	27046											
MAMDC4	158056	genome.wustl.edu	37	chr9	139751367	139751367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccctgcaggccactttGtgctcctggaccccacagac	6	8	9	18	0	0	1	0	0	0	1	1	2	1	2	6	2	3	2	6	2	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr9:139751367G>A	ENST00000317446.2	+	16	1896	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	MAMDC4_ENST00000445819.1_Missense_Mutation_p.V695M|MAMDC4_ENST00000485732.1_3'UTR	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGGCCACTTTGTGCTCCTGGA	0.672																																																	0													31	36	34					9																	139751367		2198	4297	6495	SO:0001583	missense	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"apical early endosomal glycoprotein precursor", "endotubin"					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.1846G>A	9.37:g.139751367G>A	ENSP00000319388:p.Val616Met			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.V695M	ENST00000317446.2	37	c.2083	CCDS7010.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.022|0.022	-1.417612|-1.417612	0.01136|0.01136	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|T;T	.|0.01516	.|4.81;4.81	4.75|4.75	-5.5|-5.5	0.02576|0.02576	.|.	.|0.413357	.|0.22613	.|N	.|0.057818	T|T	0.00384|0.00384	0.0012|0.0012	N|N	0.00517|0.00517	-1.405|-1.405	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.15141	.|0.012	.|B	.|0.12837	.|0.008	T|T	0.33854|0.33854	-0.9852|-0.9852	5|10	.|0.02654	.|T	.|1	-11.1346|-11.1346	1.0067|1.0067	0.01488|0.01488	0.3602:0.1168:0.2949:0.2281|0.3602:0.1168:0.2949:0.2281	.|.	.|616	.|Q6UXC1-2	.|.	Y|M	680|616;695	.|ENSP00000319388:V616M;ENSP00000411339:V695M	.|ENSP00000319388:V616M	C|V	+|+	2|1	0|0	MAMDC4|MAMDC4	138871188|138871188	0.000000|0.000000	0.05858|0.05858	0.064000|0.064000	0.19789|0.19789	0.537000|0.537000	0.34900|0.34900	-1.157000|-1.157000	0.03157|0.03157	-1.333000|-1.333000	0.02247|0.02247	-0.459000|-0.459000	0.05422|0.05422	TGT|GTG	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.672	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3	-	0	57	0	G	NM_206920		139751367	1	tier1	-	no_errors	ENST00000445819	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.039	A	A	139751367	G	A	139751367	3	1	94	1	0	0	0	0	1	0	0	0	9242	1377	48	3	1908	3	MAMDC4	9	139751367	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	14462275	139751367	1462064	132	27047											
ZEB1	6935	genome.wustl.edu	37	chr10	31810442	31810442	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacacagctgagggtgcaCaagaagagccacaagtagaa	16	5	12	8	0	0	4	0	1	0	3	0	4	0	4	1	1	4	4	1	1	6	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:31810442C>T	ENST00000320985.10	+	7	2289	c.2179C>T	c.(2179-2181)Caa>Taa	p.Q727*	ZEB1_ENST00000542815.3_Nonsense_Mutation_p.Q660*|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.Q707*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.Q728*|ZEB1_ENST00000446923.2_Nonsense_Mutation_p.Q711*			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	727					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q727K(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAGGGTGCACAAGAAGAGCC	0.433																																					Ovarian(40;423 959 14296 36701 49589)												1	Substitution - Missense(1)	large_intestine(1)											91	85	87					10																	31810442		2203	4300	6503	SO:0001587	stop_gained	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	11642	protein-coding gene	gene with protein product		189909	"transcription factor 8 (represses interleukin 2 expression)", "posterior polymorphous corneal dystrophy 3"	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2179C>T	10.37:g.31810442C>T	ENSP00000319248:p.Gln727*		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.Q728*	ENST00000320985.10	37	c.2182	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986042	0.93044	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	.	.	.	5.19	5.19	0.71726	.	0.320500	0.26867	N	0.022098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-5.6872	14.6715	0.68948	0.0:0.855:0.145:0.0	.	.	.	.	X	509;727;728;727;660;727;707;586;618;711	.	ENSP00000319248:Q727X	Q	+	1	0	ZEB1	31850448	0.311000	0.24536	0.918000	0.36340	0.998000	0.95712	1.919000	0.40015	2.575000	0.86900	0.650000	0.86243	CAA	ZEB1	-	NULL	ENSG00000148516		0.433	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2		0	26	0	C	NM_030751		31810442	1			no_errors	ENST00000361642	ensembl	human	known	74_37	nonsense	7.50	37	3	SNP	0.986	T	T	31810442	C	T	31810442	4	4	94	1	0	0	0	0	0	1	0	0	17671	479	17	3	2219	3	ZEB1	10	31810442	Nonsense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09		31810442	103724305	133	27048											
GDF2	2658	genome.wustl.edu	37	chr10	48414221	48414221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttggtggagtcggacCggacccagcgcttcacggcg	5	8	15	13	5	2	0	1	0	1	0	3	3	2	3	2	5	2	2	2	5	0	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:48414221C>T	ENST00000249598.1	-	2	806	c.647G>A	c.(646-648)cGg>cAg	p.R216Q		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	216					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R216Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GGAGTCGGACCGGACCCAGCG	0.582																																																	1	Substitution - Missense(1)	prostate(1)											72	73	73					10																	48414221		2203	4300	6503	SO:0001583	missense	0			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"Endogenous ligands"	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.647G>A	10.37:g.48414221C>T	ENSP00000249598:p.Arg216Gln		Q5VSQ9|Q9Y571	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.R216Q	ENST00000249598.1	37	c.647	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743086	0.49151	.	.	ENSG00000128802	ENST00000249598	T	0.64991	-0.13	5.59	4.68	0.58851	Transforming growth factor-beta, N-terminal (1);	0.270585	0.47455	D	0.000237	T	0.63803	0.2542	M	0.77103	2.36	0.30824	N	0.73742	D	0.61080	0.989	P	0.49528	0.614	T	0.63708	-0.6576	10	0.13470	T	0.59	.	7.5995	0.28067	0.0:0.713:0.1364:0.1506	.	216	Q9UK05	GDF2_HUMAN	Q	216	ENSP00000249598:R216Q	ENSP00000249598:R216Q	R	-	2	0	GDF2	48034227	0.068000	0.21057	0.989000	0.46669	0.322000	0.28314	0.351000	0.20096	1.350000	0.45770	0.591000	0.81541	CGG	GDF2	-	pfam_TGF-b_N	ENSG00000128802		0.582	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	HGNC	protein_coding	OTTHUMT00000047891.1	-	0	15	0	C	NM_016204		48414221	-1	tier1	-	no_errors	ENST00000249598	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.941	T	T	48414221	C	T	48414221	3	4	94	1	0	0	0	0	1	0	0	0	6340	652	23	1	646	1	GDF2	10	48414221	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	16603779	48414221	87120526	134	27049											
PCDH15	65217	genome.wustl.edu	37	chr10	55912910	55912910	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttggaccgtgagtgcgtaAgtccgcccgactatcatttc	7	11	11	12	4	1	1	1	1	0	0	3	3	2	2	3	1	1	2	3	1	2	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:55912910A>C	ENST00000320301.6	-	14	2128	c.1734T>G	c.(1732-1734)acT>acG	p.T578T	PCDH15_ENST00000409834.1_Silent_p.T189T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Silent_p.T578T|PCDH15_ENST00000373965.2_Silent_p.T585T|PCDH15_ENST00000373955.1_Silent_p.T578T|PCDH15_ENST00000414778.1_Silent_p.T583T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Silent_p.T585T|PCDH15_ENST00000395430.1_Silent_p.T578T|PCDH15_ENST00000395446.1_Silent_p.T578T|PCDH15_ENST00000395432.2_Silent_p.T541T|PCDH15_ENST00000373957.3_Silent_p.T556T|PCDH15_ENST00000395433.1_Silent_p.T556T|PCDH15_ENST00000395438.1_Silent_p.T578T|PCDH15_ENST00000361849.3_Silent_p.T578T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	578	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGTGCGTAAGTCCGCCCGA	0.488										HNSCC(58;0.16)																																							0													137	119	125					10																	55912910		2203	4300	6503	SO:0001819	synonymous_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1734T>G	10.37:g.55912910A>C			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T578	ENST00000320301.6	37	c.1734	CCDS7248.1	10																																																																																			PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000150275		0.488	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	49	0	A	NM_033056		55912910	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.861	C	C	55912910	A	C	55912910	2	2	94	1	0	0	0	0	0	0	0	1	11550	59	3	4		4	PCDH15	10	55912910	Silent	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	7498689	55912910	79621837	135	27050											
PPP1R3C	5507	genome.wustl.edu	37	chr10	93390347	93390347	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggagaagacatggatCgcagtgagagagaggccctt	12	6	16	7	2	0	4	0	1	0	4	2	8	0	5	1	4	0	1	1	4	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:93390347C>A	ENST00000238994.5	-	2	375	c.291G>T	c.(289-291)gcG>gcT	p.A97A		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				AGACATGGATCGCAGTGAGAG	0.493																																																	0													109	110	109					10																	93390347		2203	4300	6503	SO:0001819	synonymous_variant	0			Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9293	protein-coding gene	gene with protein product	"Phosphatase 1, regulatory inhibitor subunit 5", "protein targeting to glycogen"	602999	"protein phosphatase 1, regulatory (inhibitor) subunit 3C"	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.291G>T	10.37:g.93390347C>A				Silent	SNP	pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21	p.A97	ENST00000238994.5	37	c.291	CCDS7416.1	10																																																																																			PPP1R3C	-	pirsf_Pase-1_Glycogen_target-su_met	ENSG00000119938		0.493	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3C	HGNC	protein_coding	OTTHUMT00000049372.1	-	0	57	0	C	NM_005398		93390347	-1	tier1	-	no_errors	ENST00000238994	ensembl	human	known	74_37	silent	26.79	41	15	SNP	0.004	A	A	93390347	C	A	93390347	2	1	94	1	0	0	0	0	0	0	0	1	12415	871	31	2		2	PPP1R3C	10	93390347	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	37477437	93390347	42144400	136	27051											
CYP2C8	1558	genome.wustl.edu	37	chr10	96802803	96802803	+	Frame_Shift_Del	DEL	A	A	-																															caggggctcctgtgtctgccAattacatgatcaatctcttc																										TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:96802803delA	ENST00000371270.3	-	7	1087	c.993delT	c.(991-993)attfs	p.I331fs	CYP2C8_ENST00000535898.1_Frame_Shift_Del_p.I229fs|CYP2C8_ENST00000539050.1_Frame_Shift_Del_p.I245fs	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	331					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	TGTGTCTGCCAATTACATGAT	0.468																																																	0													183	146	158					10																	96802803		2203	4300	6503	SO:0001589	frameshift_variant	0			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"Cytochrome P450s"	2622	protein-coding gene	gene with protein product		601129	"cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.993delT	10.37:g.96802803delA	ENSP00000360317:p.Ile331fs		A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I331fs	ENST00000371270.3	37	c.993	CCDS7438.1	10																																																																																			CYP2C8	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000138115		0.468	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C8	HGNC	protein_coding	OTTHUMT00000049499.2		0	53	0	A	NM_000770		96802803	-1	tier1		no_errors	ENST00000371270	ensembl	human	known	74_37	frame_shift_del	10.77	58	7	DEL	1.000	-	-	96802803	A	-	96802803	7	5	94	1	0	1	0	1	0	0	0	0	4176	126	5	0	491	0	CYP2C8	10	96802803	Frame_Shift_Del	DEL	A	TCGA-L5-A8NV-01A-11D-A37C-09	3412456	96802803	38731944	137	27052											
HPS1	3257	genome.wustl.edu	37	chr10	100190889	100190889	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccagaccttgagctcaccTagagtagaatgccagcagct	11	8	10	12	0	1	4	1	1	0	3	1	4	1	4	4	0	5	4	4	0	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:100190889T>C	ENST00000325103.6	-	7	900	c.667A>G	c.(667-669)Agc>Ggc	p.S223G	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Splice_Site_p.S223G|HPS1_ENST00000338546.5_Splice_Site_p.S223G|MIR4685_ENST00000578185.1_RNA	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	223					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGAGCTCACCTAGAGTAGAAT	0.612									Hermansky-Pudlak syndrome																																								0													57	51	53					10																	100190889		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	HPS, HPS1-8	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"Hermansky-Pudlak syndrome"	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.668+1A>G	10.37:g.100190889T>C			A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	NULL	p.S223G	ENST00000325103.6	37	c.667	CCDS7475.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.58|14.58	2.578804|2.578804	0.46006|0.46006	.|.	.|.	ENSG00000107521|ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632;ENST00000338546|ENST00000414009	T;T;T;T|.	0.52526|.	1.47;1.47;0.66;1.47|.	5.3|5.3	2.92|2.92	0.33932|0.33932	.|.	0.208502|.	0.64402|.	N|.	0.000019|.	T|.	0.51109|.	0.1655|.	L|L	0.37630|0.37630	1.12|1.12	0.42130|0.42130	D|D	0.991462|0.991462	B;B;B;B|.	0.11235|.	0.002;0.004;0.002;0.004|.	B;B;B;B|.	0.14578|.	0.005;0.004;0.005;0.011|.	T|.	0.40905|.	-0.9538|.	10|.	0.40728|.	T|.	0.16|.	.|.	9.2141|9.2141	0.37337|0.37337	0.0:0.1511:0.0:0.8489|0.0:0.1511:0.0:0.8489	.|.	223;223;223;223|.	Q92902;Q92902-3;Q8WXE5;D3DR62|.	HPS1_HUMAN;.;.;.|.	G|W	223;223;223;51;223|90	ENSP00000326649:S223G;ENSP00000355310:S223G;ENSP00000352652:S51G;ENSP00000343638:S223G|.	ENSP00000326649:S223G|.	S|X	-|-	1|2	0|0	HPS1|HPS1	100180879|100180879	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	4.686000|4.686000	0.61700|0.61700	0.811000|0.811000	0.34303|0.34303	0.459000|0.459000	0.35465|0.35465	AGC|TAG	HPS1	-	NULL	ENSG00000107521		0.612	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS1	HGNC	protein_coding	OTTHUMT00000049776.1	-	0	48	0	T	NM_000195, NM_182637, NM_182638, NM_182639	Missense_Mutation	100190889	-1	tier1	-	no_errors	ENST00000325103	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	C	C	100190889	T	C	100190889	5	2	94	1	0	0	0	0	0	0	1	0	7366	1536	53	4	1529	4	HPS1	10	100190889	Splice_Site	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	3388086	100190889	35343858	138	27053											
SEC31B	25956	genome.wustl.edu	37	chr10	102249885	102249885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgtgggagaccatgcGgccgggacctagtggtctca	6	8	18	9	2	1	1	1	0	1	1	2	3	1	2	3	6	1	0	3	6	1	1	rs146812157		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:102249885G>A	ENST00000370345.3	-	21	2942	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	949	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GAGACCATGCGGCCGGGACCT	0.627													G|||	1	0.000199681	8e-04	0	5008	,	,		17095	0		0	False		,,,				2504	0																0								G	CYS/ARG	5,4401	8.1+/-20.4	0,5,2198	80	80	80		2845	2.7	0	10	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SEC31B	NM_015490.3	180	0,6,6497	AA,AG,GG		0.0116,0.1135,0.0461	benign	949/1180	102249885	6,13000	2203	4300	6503	SO:0001583	missense	0			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"WD repeat domain containing"	23197	protein-coding gene	gene with protein product		610258	"SEC31-like 2 (S. cerevisiae)"	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2845C>T	10.37:g.102249885G>A	ENSP00000359370:p.Arg949Cys		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R949C	ENST00000370345.3	37	c.2845	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077122	0.08485	0.001135	1.16E-4	ENSG00000075826	ENST00000370345	T	0.51817	0.69	5.52	2.65	0.31530	.	0.771926	0.12938	N	0.426849	T	0.26484	0.0647	N	0.08118	0	0.09310	N	1	P;P	0.43633	0.813;0.536	B;B	0.42798	0.398;0.157	T	0.04840	-1.0923	10	0.39692	T	0.17	-0.5664	4.4856	0.11788	0.1807:0.0:0.6412:0.1781	.	948;949	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	C	949	ENSP00000359370:R949C	ENSP00000359370:R949C	R	-	1	0	SEC31B	102239875	0.010000	0.17322	0.007000	0.13788	0.001000	0.01503	1.312000	0.33574	0.691000	0.31592	-0.310000	0.09108	CGC	SEC31B	-	NULL	ENSG00000075826		0.627	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	-	0	67	0	G	NM_015490		102249885	-1	tier1	rs146812157	no_errors	ENST00000370345	ensembl	human	known	74_37	missense	38.78	30	19	SNP	0.002	A	A	102249885	G	A	102249885	3	1	94	1	0	0	0	0	1	0	0	0	14044	1116	39	1	718	1	SEC31B	10	102249885	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	2058996	102249885	33284862	139	27054											
KIAA1598	57698	genome.wustl.edu	37	chr10	118704457	118704457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtgcaaatgactctgctTtctttcgaaggtccttctcc	6	16	7	12	1	3	1	0	1	3	0	6	2	4	1	2	1	2	2	2	1	2	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:118704457T>C	ENST00000355371.4	-	8	1186	c.689A>G	c.(688-690)aAa>aGa	p.K230R	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.K230R|KIAA1598_ENST00000392901.4_Missense_Mutation_p.K170R|KIAA1598_ENST00000260777.10_Missense_Mutation_p.K230R	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	230					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TGACTCTGCTTTCTTTCGAAG	0.428																																																	0													176	165	169					10																	118704457		2203	4300	6503	SO:0001583	missense	0			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.689A>G	10.37:g.118704457T>C	ENSP00000347532:p.Lys230Arg		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	superfamily_Adenylate_cyclase-assoc_CAP_N	p.K230R	ENST00000355371.4	37	c.689	CCDS44482.1	10	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059249	0.36373	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.25085	2.76;2.76;2.76;1.82	5.9	4.77	0.60923	.	0.193586	0.56097	N	0.000039	T	0.21921	0.0528	L	0.47716	1.5	0.32736	N	0.50837	B;B;B	0.21606	0.037;0.008;0.058	B;B;B	0.20184	0.024;0.009;0.028	T	0.18335	-1.0340	10	0.38643	T	0.18	-22.9443	8.4212	0.32700	0.0:0.1494:0.0:0.8506	.	230;230;200	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	R	230;230;230;170	ENSP00000376636:K230R;ENSP00000260777:K230R;ENSP00000347532:K230R;ENSP00000376635:K170R	ENSP00000260777:K230R	K	-	2	0	KIAA1598	118694447	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.065000	0.57513	1.067000	0.40740	0.528000	0.53228	AAA	KIAA1598	-	NULL	ENSG00000187164		0.428	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1598	HGNC	protein_coding		-	0	39	0	T	NM_018330		118704457	-1	tier1	-	no_errors	ENST00000392903	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	C	C	118704457	T	C	118704457	3	2	94	1	0	0	0	0	1	0	0	0	8273	1841	64	4	1246	4	KIAA1598	10	118704457	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	16454572	118704457	16830290	140	27055											
INPP5A	3632	genome.wustl.edu	37	chr10	134591286	134591286	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaaggagctggtgctgcgGgtgagtgtgtgctgccccag	5	8	18	10	1	0	1	0	1	0	0	0	2	0	2	3	3	5	3	3	3	1	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr10:134591286G>T	ENST00000368594.3	+	13	1366	c.1089G>T	c.(1087-1089)cgG>cgT	p.R363R	INPP5A_ENST00000368593.3_Silent_p.R363R	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	363					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGGTGCTGCGGGTGAGTGTGT	0.692																																					Pancreas(63;823 1267 11107 20380 51626)												0													74	56	62					10																	134591286		2198	4296	6494	SO:0001630	splice_region_variant	0			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1089+1G>T	10.37:g.134591286G>T			D3DXI3|Q14640|Q5JSF1	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.R363	ENST00000368594.3	37	c.1089	CCDS7669.2	10																																																																																			INPP5A	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000068383		0.692	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5A	HGNC	protein_coding	OTTHUMT00000051085.1		0	77	0	G	NM_005539	Silent	134591286	1			no_errors	ENST00000368594	ensembl	human	known	74_37	silent	6.35	59	4	SNP	1.000	T	T	134591286	G	T	134591286	5	4	94	1	0	0	0	0	0	0	1	0	7781	1246	43	3	1139	3	INPP5A	10	134591286	Splice_Site	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	15886829	134591286	943461	141	27056											
RRM1	6240	genome.wustl.edu	37	chr11	4142839	4142839	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatttaccactagcgtccTggggcatttgctatttacct	7	17	7	10	1	0	0	0	0	0	0	1	0	1	0	3	2	4	2	3	2	5	9			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:4142839T>C	ENST00000300738.5	+	10	1086	c.882T>C	c.(880-882)ccT>ccC	p.P294P	RRM1_ENST00000423050.2_Silent_p.P197P|RRM1_ENST00000537197.1_5'UTR|RRM1_ENST00000534285.1_Silent_p.P72P|RRM1_ENST00000528470.1_3'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	294					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACTAGCGTCCTGGGGCATTTG	0.373																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)												0													83	84	84					11																	4142839		2201	4298	6499	SO:0001819	synonymous_variant	0			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"ribonucleotide reductase M1 polypeptide"			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.882T>C	11.37:g.4142839T>C			Q9UNN2	Silent	SNP	pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA	p.P294	ENST00000300738.5	37	c.882	CCDS7750.1	11																																																																																			RRM1	-	pfam_RNR_lg_C,prints_RNR_lg_C,tigrfam_NrdE_NrdA	ENSG00000167325		0.373	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	HGNC	protein_coding	OTTHUMT00000257197.1	-	0	40	0	T	NM_001033		4142839	1	tier1	-	no_errors	ENST00000300738	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	C	C	4142839	T	C	4142839	2	2	94	1	0	0	0	0	0	0	0	1	13726	1567	55	4		4	RRM1	11	4142839	Silent	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09		4142839	130863677	142	27057											
RBMXL2	27288	genome.wustl.edu	37	chr11	7110479	7110479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctcctgatgaaagaccGagaaaccaacaagtcgaggg	14	5	13	9	2	0	4	0	2	0	2	2	6	1	4	3	2	3	1	3	2	4	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:7110479G>A	ENST00000306904.5	+	1	315	c.128G>A	c.(127-129)cGa>cAa	p.R43Q		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	43	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGAAAGACCGAGAAACCAAC	0.587																																																	0													45	43	44					11																	7110479		2201	4296	6497	SO:0001583	missense	0			AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"RNA binding motif (RRM) containing"	17886	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G T"	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.128G>A	11.37:g.7110479G>A	ENSP00000304139:p.Arg43Gln		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R43Q	ENST00000306904.5	37	c.128	CCDS7777.1	11	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345522	0.41498	.	.	ENSG00000170748	ENST00000306904	D	0.85629	-2.01	2.39	1.47	0.22746	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.76111	0.3942	L	0.49699	1.58	0.45648	D	0.998574	P	0.34546	0.456	B	0.27500	0.08	T	0.72168	-0.4372	10	0.66056	D	0.02	.	7.1841	0.25789	0.146:0.0:0.854:0.0	.	43	O75526	HNRGT_HUMAN	Q	43	ENSP00000304139:R43Q	ENSP00000304139:R43Q	R	+	2	0	RBMXL2	7067055	1.000000	0.71417	0.989000	0.46669	0.946000	0.59487	5.940000	0.70187	0.552000	0.29026	0.455000	0.32223	CGA	RBMXL2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000170748		0.587	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL2	HGNC	protein_coding	OTTHUMT00000384552.1	-	0	57	0	G	NM_014469		7110479	1	tier1	-	no_errors	ENST00000306904	ensembl	human	known	74_37	missense	36.49	47	27	SNP	0.998	A	A	7110479	G	A	7110479	3	1	94	1	0	0	0	0	1	0	0	0	13199	1058	37	1	130	1	RBMXL2	11	7110479	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	2967640	7110479	127896037	143	27058											
ABCC8	6833	genome.wustl.edu	37	chr11	17430052	17430052	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggatggtgccatcctTcatggcaatgatctggaaag	9	11	11	10	0	3	1	1	1	2	0	4	3	4	3	3	4	1	1	3	4	2	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:17430052T>A	ENST00000389817.3	-	23	2775	c.2707A>T	c.(2707-2709)Aag>Tag	p.K903*	ABCC8_ENST00000302539.4_Nonsense_Mutation_p.K904*			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	903	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTGCCATCCTTCATGGCAATG	0.542																																																	0													119	115	116					11																	17430052		2200	4293	6493	SO:0001587	stop_gained	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"ATP binding cassette transporters / subfamily C"	59	protein-coding gene	gene with protein product	"sulfonylurea receptor (hyperinsulinemia)"	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2707A>T	11.37:g.17430052T>A	ENSP00000374467:p.Lys903*		A6NMX8|E3UYX6|O75948|Q16583	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.K904*	ENST00000389817.3	37	c.2710	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	T	42	9.785547	0.99263	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	.	.	.	X	903;904;907	.	ENSP00000303960:K904X	K	-	1	0	ABCC8	17386628	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.693000	0.84214	2.371000	0.80710	0.533000	0.62120	AAG	ABCC8	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000006071		0.542	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1		0	40	0	T	NM_000352		17430052	-1			no_errors	ENST00000302539	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	1.000	A	A	17430052	T	A	17430052	4	1	94	1	0	0	0	0	0	1	0	0	58	1792	62	5	2106	5	ABCC8	11	17430052	Nonsense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	10319573	17430052	117576464	144	27059											
TMEM86A	144110	genome.wustl.edu	37	chr11	18722743	18722743	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaggatacttcgtgcaTggtcagtggccatagtagtt	10	11	12	8	1	1	0	1	0	0	0	2	2	1	1	2	3	2	3	2	3	4	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:18722743T>C	ENST00000280734.2	+	2	381	c.285T>C	c.(283-285)caT>caC	p.H95H	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	95						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						ACTTCGTGCATGGTCAGTGGC	0.587																																																	0													58	59	58					11																	18722743		2199	4293	6492	SO:0001630	splice_region_variant	0			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.286+1T>C	11.37:g.18722743T>C			Q96AJ0	Silent	SNP	pfam_YhhN	p.H95	ENST00000280734.2	37	c.285	CCDS7844.1	11																																																																																			TMEM86A	-	pfam_YhhN	ENSG00000151117		0.587	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM86A	HGNC	protein_coding	OTTHUMT00000387812.1	-	0	69	0	T	NM_153347	Silent	18722743	1	tier1	-	no_errors	ENST00000280734	ensembl	human	known	74_37	silent	31.03	40	18	SNP	0.987	C	C	18722743	T	C	18722743	5	2	94	1	0	0	0	0	0	0	1	0	16255	1478	51	4	291	4	TMEM86A	11	18722743	Splice_Site	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	1292691	18722743	116283773	145	27060											
COMMD9	29099	genome.wustl.edu	37	chr11	36300161	36300161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaggcggtgcagagcctgGagcagctgcaagataaacgg	11	5	17	8	2	0	3	0	1	0	2	0	4	0	4	1	4	6	4	1	4	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:36300161G>A	ENST00000263401.5	-	3	199	c.183C>T	c.(181-183)ctC>ctT	p.L61L	COMMD9_ENST00000452374.2_Silent_p.L19L|COMMD9_ENST00000532705.1_Silent_p.L61L	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	61										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				GCAGAGCCTGGAGCAGCTGCA	0.582																																																	0													54	52	52					11																	36300161		2202	4298	6500	SO:0001819	synonymous_variant	0			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.183C>T	11.37:g.36300161G>A			E9PAN2|Q96FI2|Q9H0R0	Silent	SNP	pfam_HCaRG	p.L61	ENST00000263401.5	37	c.183	CCDS7900.1	11																																																																																			COMMD9	-	pfam_HCaRG	ENSG00000110442		0.582	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD9	HGNC	protein_coding	OTTHUMT00000389196.1		0	22	0	G	NM_014186		36300161	-1			no_errors	ENST00000263401	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.997	A	A	36300161	G	A	36300161	2	1	94	1	0	0	0	0	0	0	0	1	3730	1161	41	3		3	COMMD9	11	36300161	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	17577418	36300161	98706355	146	27061											
RAG1	5896	genome.wustl.edu	37	chr11	36595270	36595270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggatggtaaaaccctagGccttttacgaaagaaggaaa	15	9	11	6	1	0	1	0	0	0	1	0	4	0	3	2	4	2	1	2	4	7	4	rs140648865		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:36595270G>T	ENST00000299440.5	+	2	528	c.416G>T	c.(415-417)gGc>gTc	p.G139V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	139	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAACCCTAGGCCTTTTACGA	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0								G	VAL/GLY	0,4404		0,0,2202	92	88	89		416	-9.8	0.1	11	dbSNP_134	89	1,8595	1.2+/-3.3	0,1,4297	no	missense	RAG1	NM_000448.2	109	0,1,6499	TT,TG,GG		0.0116,0.0,0.0077	benign	139/1044	36595270	1,12999	2202	4298	6500	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"RING-type (C3HC4) zinc fingers"	9831	protein-coding gene	gene with protein product	"recombination activating protein 1", "RING finger protein 74", "V(D)J recombination-activating protein 1"	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.416G>T	11.37:g.36595270G>T	ENSP00000299440:p.Gly139Val		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.G139V	ENST00000299440.5	37	c.416	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	G	7.620	0.676598	0.14841	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73681	-0.77;-0.77	6.14	-9.78	0.00496	.	0.501323	0.21734	N	0.069931	T	0.34221	0.0890	N	0.03903	-0.33	0.26209	N	0.97933	B	0.02656	0.0	B	0.01281	0.0	T	0.20338	-1.0278	10	0.33141	T	0.24	.	0.6463	0.00819	0.3229:0.2819:0.1416:0.2536	.	139	P15918	RAG1_HUMAN	V	139	ENSP00000434610:G139V;ENSP00000299440:G139V	ENSP00000299440:G139V	G	+	2	0	RAG1	36551846	0.022000	0.18835	0.059000	0.19551	0.961000	0.63080	0.099000	0.15210	-1.951000	0.01029	-0.893000	0.02921	GGC	RAG1	-	NULL	ENSG00000166349		0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	-	0	35	0	G	NM_000448		36595270	1	tier1	rs140648865	no_errors	ENST00000299440	ensembl	human	known	74_37	missense	11.76	29	4	SNP	0.019	T	T	36595270	G	T	36595270	3	4	94	1	0	0	0	0	1	0	0	0	13048	1203	42	3	418	3	RAG1	11	36595270	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	295109	36595270	98411246	147	27062											
OR5I1	10798	genome.wustl.edu	37	chr11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcattttgggaacaatGtctgagaaatagcaaaggtc	15	9	10	7	0	1	1	0	1	1	1	2	3	1	2	1	2	3	2	1	2	5	3	rs144543203		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:55703643G>T	ENST00000301532.3	-	1	233	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	78					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D78E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGAACAATGTCTGAGAAAT	0.383																																																	1	Substitution - Missense(1)	prostate(1)											49	51	50					11																	55703643		2198	4295	6493	SO:0001583	missense	0			BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"GPCR / Class A : Olfactory receptors"	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.234C>A	11.37:g.55703643G>T	ENSP00000301532:p.Asp78Glu		Q6IEU4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D78E	ENST00000301532.3	37	c.234	CCDS7949.1	11	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558810	0.27827	.	.	ENSG00000167825	ENST00000301532	T	0.00428	7.44	5.05	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.338625	0.21274	N	0.077269	T	0.00241	0.0007	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.49716	-0.8910	10	0.72032	D	0.01	.	1.8233	0.03115	0.1784:0.1621:0.4922:0.1674	.	78	Q13606	OR5I1_HUMAN	E	78	ENSP00000301532:D78E	ENSP00000301532:D78E	D	-	3	2	OR5I1	55460219	0.000000	0.05858	0.974000	0.42286	0.631000	0.37964	-1.582000	0.02117	0.624000	0.30286	0.637000	0.83480	GAC	OR5I1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000167825		0.383	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5I1	HGNC	protein_coding	OTTHUMT00000391528.1	-	0	28	0	G	NM_006637		55703643	-1	tier1	-	no_errors	ENST00000301532	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.024	T	T	55703643	G	T	55703643	3	4	94	1	0	0	0	0	1	0	0	0	11203	1368	48	3	713	3	OR5I1	11	55703643	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	19108373	55703643	79302873	148	27063											
EHD1	10938	genome.wustl.edu	37	chr11	64627630	64627630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacacccgcatcagctgCtgcgtctcgatctggtctgc	5	10	10	16	4	4	0	1	0	3	0	5	1	4	0	2	1	5	4	2	1	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:64627630C>T	ENST00000320631.3	-	3	935	c.681G>A	c.(679-681)caG>caA	p.Q227Q	EHD1_ENST00000359393.2_Silent_p.Q227Q	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	227	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCATCAGCTGCTGCGTCTCGA	0.582																																																	0													103	98	100					11																	64627630		2201	4297	6498	SO:0001819	synonymous_variant	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.681G>A	11.37:g.64627630C>T			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.Q227	ENST00000320631.3	37	c.681	CCDS8084.1	11																																																																																			EHD1	-	superfamily_P-loop_NTPase	ENSG00000110047		0.582	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	-	0	58	0	C	NM_006795		64627630	-1	tier1	-	no_errors	ENST00000320631	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	T	T	64627630	C	T	64627630	2	4	94	1	0	0	0	0	0	0	0	1	4991	796	28	3		3	EHD1	11	64627630	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	8923987	64627630	70378886	149	27064											
TMEM134	80194	genome.wustl.edu	37	chr11	67232151	67232153	+	In_Frame_Del	DEL	GAA	GAA	-																															cccttgaccgcgcagtagatGaagatcacgtgatagactgc																										TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:67232151_67232153delGAA	ENST00000308022.2	-	7	561_563	c.520_522delTTC	c.(520-522)ttcdel	p.F174del	CTC-1337H24.2_ENST00000602944.1_lincRNA|TMEM134_ENST00000393877.3_In_Frame_Del_p.F159del|TMEM134_ENST00000541059.1_5'UTR	NM_001078651.1|NM_025124.2	NP_001072119.1|NP_079400.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	174						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CGCAGTAGATGAAGATCACGTGA	0.69																																																	0																																										SO:0001651	inframe_deletion	0			AK025402	CCDS8167.1, CCDS41678.1	11q13.2	2006-03-09			ENSG00000172663	ENSG00000172663			26142	protein-coding gene	gene with protein product							Standard	NM_025124		Approved	FLJ21749	uc001olq.2	Q9H6X4	OTTHUMG00000168034	ENST00000308022.2:c.520_522delTTC	11.37:g.67232151_67232153delGAA	ENSP00000312615:p.Phe174del		Q08AK4|Q6PJN3	In_Frame_Del	DEL	pfam_DUF872_TM	p.F159in_frame_del	ENST00000308022.2	37	c.477_475	CCDS8167.1	11																																																																																			TMEM134	-	pfam_DUF872_TM	ENSG00000172663		0.69	TMEM134-020	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM134	HGNC	protein_coding	OTTHUMT00000398994.1		0	73	0	GAA	NM_025124		67232153	-1	tier1		no_errors	ENST00000393877	ensembl	human	known	74_37	in_frame_del	15.71	59	11	DEL	1.000:1.000:1.000	-	-	67232153	GAA	-	67232151	7	5	94	1	0	1	0	1	0	0	0	0	16097	1281	45	0	69	0	TMEM134	11	67232151	In_Frame_Del	DEL	GAA	TCGA-L5-A8NV-01A-11D-A37C-09	2604521	67232151	67774365	150	27065											
IL18BP	10068	genome.wustl.edu	37	chr11	71711506	71711506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccactgcctcagttagaagCacaaaggacccctgcccctc	10	6	8	17	0	1	1	1	0	0	1	2	2	1	2	6	1	3	2	6	1	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:71711506C>G	ENST00000393703.4	+	3	675	c.138C>G	c.(136-138)agC>agG	p.S46R	IL18BP_ENST00000393705.4_Missense_Mutation_p.S46R|IL18BP_ENST00000260049.5_Missense_Mutation_p.S46R|IL18BP_ENST00000531053.1_Missense_Mutation_p.S46R|IL18BP_ENST00000497194.2_Missense_Mutation_p.S46R|IL18BP_ENST00000404792.1_Missense_Mutation_p.S46R|IL18BP_ENST00000337131.5_Missense_Mutation_p.S46R|IL18BP_ENST00000393707.4_Missense_Mutation_p.S46R	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	46					cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CAGTTAGAAGCACAAAGGACC	0.602																																																	0													81	94	89					11																	71711506		2112	4231	6343	SO:0001583	missense	0			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5987	protein-coding gene	gene with protein product	"MC51L-53L-54L homolog gene product"	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.138C>G	11.37:g.71711506C>G	ENSP00000377306:p.Ser46Arg		B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	pfscan_Ig-like_dom	p.S46R	ENST00000393703.4	37	c.138	CCDS8206.2	11	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786534	0.31593	.	.	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049;ENST00000393707	T;T;T;T;T;T;T	0.35048	1.36;1.33;1.36;1.36;1.33;1.36;1.36	3.52	1.62	0.23740	.	0.804240	0.10816	N	0.631009	T	0.28333	0.0700	L	0.36672	1.1	0.09310	N	1	P;P;P	0.49253	0.921;0.531;0.531	B;B;B	0.43701	0.428;0.259;0.259	T	0.14727	-1.0462	10	0.66056	D	0.02	-1.2847	4.8557	0.13557	0.0:0.6578:0.2209:0.1213	.	46;46;46	O95998-3;G3V1C5;O95998	.;.;I18BP_HUMAN	R	46	ENSP00000377306:S46R;ENSP00000434717:S46R;ENSP00000377308:S46R;ENSP00000338723:S46R;ENSP00000434835:S46R;ENSP00000384212:S46R;ENSP00000260049:S46R	ENSP00000260049:S46R	S	+	3	2	IL18BP	71389154	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	0.000000	0.12993	0.484000	0.27630	0.555000	0.69702	AGC	IL18BP	-	NULL	ENSG00000137496		0.602	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IL18BP	HGNC	protein_coding	OTTHUMT00000258012.2		0	47	0	C	NM_173042		71711506	1			no_errors	ENST00000260049	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	G	G	71711506	C	G	71711506	3	3	94	1	0	0	0	0	1	0	0	0	7673	709	25	5	144	5	IL18BP	11	71711506	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	4479355	71711506	63295010	151	27066											
P2RY6	5031	genome.wustl.edu	37	chr11	73007970	73007970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgctggccccctggcAcaaacgtgggggccgccggg	5	3	15	18	4	0	0	0	0	0	0	0	0	0	0	6	5	1	2	6	5	1	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:73007970A>T	ENST00000393590.2	+	2	706	c.407A>T	c.(406-408)cAc>cTc	p.H136L	P2RY6_ENST00000393591.1_Missense_Mutation_p.H136L|P2RY6_ENST00000393592.2_Missense_Mutation_p.H136L|P2RY6_ENST00000542092.1_Missense_Mutation_p.H136L|P2RY6_ENST00000349767.2_Missense_Mutation_p.H136L|P2RY6_ENST00000540342.1_Missense_Mutation_p.H136L|P2RY6_ENST00000538328.1_Missense_Mutation_p.H136L|P2RY6_ENST00000540124.1_Missense_Mutation_p.H136L	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	136					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCCCCTGGCACAAACGTGGG	0.657																																																	0													43	46	45					11																	73007970		2200	4293	6493	SO:0001583	missense	0				CCDS8220.1	11q13.5	2012-08-08				ENSG00000171631		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8543	protein-coding gene	gene with protein product		602451				8670200	Standard	NM_176797		Approved	P2Y6	uc001otr.4	Q15077		ENST00000393590.2:c.407A>T	11.37:g.73007970A>T	ENSP00000377215:p.His136Leu		Q15754	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y6_rcpt,prints_GPCR_Rhodpsn,prints_P2Y3_rcpt,prints_Protea_act_rcpt	p.H136L	ENST00000393590.2	37	c.407	CCDS8220.1	11	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068310	0.55539	.	.	ENSG00000171631	ENST00000540342;ENST00000542092;ENST00000349767;ENST00000393592;ENST00000393591;ENST00000540124;ENST00000393590;ENST00000535931;ENST00000538328	T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.258871	0.38605	N	0.001635	T	0.65678	0.2714	N	0.05414	-0.055	0.44719	D	0.997716	D	0.64830	0.994	P	0.61658	0.892	T	0.69818	-0.5042	10	0.42905	T	0.14	.	13.0927	0.59174	1.0:0.0:0.0:0.0	.	136	Q15077	P2RY6_HUMAN	L	136	ENSP00000443427:H136L;ENSP00000445652:H136L;ENSP00000309771:H136L;ENSP00000377217:H136L;ENSP00000377216:H136L;ENSP00000442551:H136L;ENSP00000377215:H136L;ENSP00000440770:H136L;ENSP00000442990:H136L	ENSP00000309771:H136L	H	+	2	0	P2RY6	72685618	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.666000	0.54540	1.922000	0.55676	0.402000	0.26972	CAC	P2RY6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y3_rcpt	ENSG00000171631		0.657	P2RY6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	P2RY6	HGNC	protein_coding	OTTHUMT00000397349.1		0	36	0	A			73007970	1			no_errors	ENST00000349767	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	73007970	A	T	73007970	3	4	94	1	0	0	0	0	1	0	0	0	11393	159	6	5	409	5	P2RY6	11	73007970	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	1296464	73007970	61998546	152	27067											
SYTL2	54843	genome.wustl.edu	37	chr11	85428540	85428540	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacttcttggtacgcatTcatttgtaactggcttctga	8	16	7	10	1	4	1	2	1	2	0	4	1	4	1	0	2	2	4	0	2	2	7			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:85428540T>C	ENST00000528231.1	-	9	1893				SYTL2_ENST00000529581.1_5'UTR|SYTL2_ENST00000525423.1_Intron|SYTL2_ENST00000359152.5_Intron|SYTL2_ENST00000389958.3_Intron|SYTL2_ENST00000524452.1_Missense_Mutation_p.E550G|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.E550G|SYTL2_ENST00000533892.1_5'UTR|SYTL2_ENST00000527523.1_Missense_Mutation_p.E502G|SYTL2_ENST00000525702.1_5'Flank|SYTL2_ENST00000528566.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E872G	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGTACGCATTCATTTGTAAC	0.338																																																	0													238	223	228					11																	85428540		2203	4299	6502	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1615+1292A>G	11.37:g.85428540T>C			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E872G	ENST00000528231.1	37	c.2615	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475484	0.43942	.	.	ENSG00000137501	ENST00000389960;ENST00000354566;ENST00000530351;ENST00000527523;ENST00000524452	T;T;T;T;T	0.38722	1.57;1.63;1.12;1.48;1.57	5.65	5.65	0.86999	.	.	.	.	.	T	0.43122	0.1233	N	0.22421	0.69	0.80722	D	1	P;P;D;D	0.62365	0.675;0.675;0.991;0.991	B;B;P;P	0.56563	0.295;0.295;0.801;0.647	T	0.25502	-1.0130	8	.	.	.	.	13.4033	0.60896	0.0:0.0:0.0:1.0	.	502;550;872;872	Q9HCH5-14;Q9HCH5-6;Q9HCH5-11;Q9HCH5-8	.;.;.;.	G	550;872;291;502;550	ENSP00000374610:E550G;ENSP00000346576:E872G;ENSP00000435009:E291G;ENSP00000434010:E502G;ENSP00000435238:E550G	.	E	-	2	0	SYTL2	85106188	1.000000	0.71417	0.999000	0.59377	0.855000	0.48748	3.503000	0.53340	2.166000	0.68216	0.460000	0.39030	GAA	SYTL2	-	NULL	ENSG00000137501		0.338	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	-	0	67	0	T	NM_206927		85428540	-1	tier1	-	no_errors	ENST00000354566	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	C	C	85428540	T	C	85428540	1	2	94	0	1	0	0	0	0	0	0	0	15530	1783	62	4		4	SYTL2	11	85428540	Intron	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	12420570	85428540	49577976	153	27068											
STT3A	3703	genome.wustl.edu	37	chr11	125484062	125484062	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaattttagtggacaataaCacatggaataatacccatat	18	11	5	7	0	0	0	0	0	0	0	0	2	0	2	1	2	2	0	1	2	8	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr11:125484062C>T	ENST00000529196.1	+	15	1841	c.1635C>T	c.(1633-1635)aaC>aaT	p.N545N	STT3A_ENST00000392708.4_Silent_p.N545N|STT3A_ENST00000531491.1_Silent_p.N453N			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	545					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TGGACAATAACACATGGAATA	0.408																																																	0													216	202	207					11																	125484062		2201	4299	6500	SO:0001819	synonymous_variant	0			BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"dolichyl-diphosphooligosaccharide protein glycotransferase"	601134	"integral membrane protein 1", "STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)", "STT3A, cataylic subunit of the oligosaccharyltransferase complex"	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1635C>T	11.37:g.125484062C>T			B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Silent	SNP	pfam_Oligo_trans_STT3	p.N545	ENST00000529196.1	37	c.1635	CCDS8458.1	11																																																																																			STT3A	-	pfam_Oligo_trans_STT3	ENSG00000134910		0.408	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	HGNC	protein_coding	OTTHUMT00000386691.1	-	0	60	0	C	NM_152713		125484062	1	tier1	-	no_errors	ENST00000392708	ensembl	human	known	74_37	silent	23.94	54	17	SNP	1.000	T	T	125484062	C	T	125484062	2	4	94	1	0	0	0	0	0	0	0	1	15380	477	17	3		3	STT3A	11	125484062	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	40055522	125484062	9522454	154	27069											
CD163L1	283316	genome.wustl.edu	37	chr12	7556131	7556131	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatctttgaaccttacCagaacaaattactccagcat	14	12	4	11	0	2	3	1	2	1	1	3	3	3	3	3	0	5	1	3	0	5	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:7556131C>G	ENST00000313599.3	-	6	1465	c.1408G>C	c.(1408-1410)Gat>Cat	p.D470H	CD163L1_ENST00000396630.1_Splice_Site_p.D470H|CD163L1_ENST00000416109.2_Splice_Site_p.D480H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	470						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGAACCTTACCAGAACAAATT	0.398																																																	0													74	72	73					12																	7556131		2203	4300	6503	SO:0001630	splice_region_variant	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"CD163 antigen-like 1"			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1408+1G>C	12.37:g.7556131C>G			B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.D470H	ENST00000313599.3	37	c.1408	CCDS8577.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.90|16.90	3.248814|3.248814	0.59103|0.59103	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000545926	T;T;T|T	0.31769|0.32515	1.48;1.48;1.48|1.45	2.01|2.01	2.01|2.01	0.26516|0.26516	Speract/scavenger receptor-related (1);|.	.|.	.|.	.|.	.|.	T|T	0.38026|0.38026	0.1025|0.1025	M|M	0.62016|0.62016	1.91|1.91	0.29270|0.29270	N|N	0.870726|0.870726	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.72982|.	0.962;0.979|.	T|T	0.27606|0.27606	-1.0069|-1.0069	8|6	.|.	.|.	.|.	.|.	10.0339|10.0339	0.42118|0.42118	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	480;470|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	H|R	470;480;470|116	ENSP00000315945:D470H;ENSP00000393474:D480H;ENSP00000379871:D470H|ENSP00000439921:G116R	.|.	D|G	-|-	1|1	0|0	CD163L1|CD163L1	7447398|7447398	0.988000|0.988000	0.35896|0.35896	0.606000|0.606000	0.28943|0.28943	0.686000|0.686000	0.39977|0.39977	2.329000|2.329000	0.43876|0.43876	1.406000|1.406000	0.46857|0.46857	0.563000|0.563000	0.77884|0.77884	GAT|GGT	CD163L1	-	superfamily_Srcr_rcpt-rel	ENSG00000177675		0.398	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1		0	28	0	C	NM_174941	Missense_Mutation	7556131	-1			no_errors	ENST00000313599	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.998	G	G	7556131	C	G	7556131	5	3	94	1	0	0	0	0	0	0	1	0	2975	608	21	5	3009	5	CD163L1	12	7556131	Splice_Site	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09		7556131	126295764	155	27070											
HOXC11	3227	genome.wustl.edu	37	chr12	54367154	54367154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacttactacatgcccgaGttctccacggtctcctcctt	6	13	6	16	2	2	0	0	0	2	0	5	1	3	0	4	1	4	2	4	1	2	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:54367154G>T	ENST00000546378.1	+	1	245	c.129G>T	c.(127-129)gaG>gaT	p.E43D	HOTAIR_ENST00000424518.1_RNA|HOTAIR_ENST00000455246.1_RNA|HOXC11_ENST00000243082.4_Missense_Mutation_p.E43D			O43248	HXC11_HUMAN	homeobox C11	43					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						ACATGCCCGAGTTCTCCACGG	0.647			T	NUP98	AML																																			Dom	yes		12	12q13.3	3227	homeo box C11		L	0													115	120	119					12																	54367154		2203	4300	6503	SO:0001583	missense	0				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"Homeoboxes / ANTP class : HOXL subclass"	5123	protein-coding gene	gene with protein product		605559	"homeo box C11"	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.129G>T	12.37:g.54367154G>T	ENSP00000446680:p.Glu43Asp		A8K7D1|Q96DH2	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.E43D	ENST00000546378.1	37	c.129	CCDS8867.1	12	.	.	.	.	.	.	.	.	.	.	G	5.675	0.309160	0.10733	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.35605	1.3;1.3	4.47	4.47	0.54385	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.052375	0.85682	D	0.000000	T	0.13415	0.0325	N	0.02266	-0.62	0.42084	D	0.991263	B	0.13594	0.008	B	0.19666	0.026	T	0.15636	-1.0430	10	0.07482	T	0.82	.	10.1024	0.42513	0.0943:0.0:0.9057:0.0	.	43	O43248	HXC11_HUMAN	D	43	ENSP00000446680:E43D;ENSP00000243082:E43D	ENSP00000243082:E43D	E	+	3	2	HOXC11	52653421	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.729000	0.38115	2.471000	0.83476	0.561000	0.74099	GAG	HOXC11	-	pfam_DUF3528	ENSG00000123388		0.647	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC11	HGNC	protein_coding	OTTHUMT00000358869.2	-	0	33	0	G			54367154	1	tier1	-	no_errors	ENST00000546378	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	54367154	G	T	54367154	3	4	94	1	0	0	0	0	1	0	0	0	7337	1020	36	3	131	3	HOXC11	12	54367154	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	46811023	54367154	79484741	156	27071											
OR6C68	403284	genome.wustl.edu	37	chr12	55886563	55886563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattatatggcaatcatGagcaacaaagtgtgcaaaac	16	10	8	7	0	1	1	1	1	0	0	1	1	1	1	0	1	5	4	0	1	7	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:55886563G>T	ENST00000548615.1	+	1	402	c.402G>T	c.(400-402)atG>atT	p.M134I	OR6C68_ENST00000379662.1_Missense_Mutation_p.M139I|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TGGCAATCATGAGCAACAAAG	0.403																																																	0													161	147	152					12																	55886563		2203	4300	6503	SO:0001583	missense	0				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.402G>T	12.37:g.55886563G>T	ENSP00000448811:p.Met134Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.M139I	ENST00000548615.1	37	c.417	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355972	0.24598	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.00551	6.65;6.65	4.77	4.77	0.60923	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.01222	0.0040	M	0.85859	2.78	0.31817	N	0.626436	B	0.27625	0.183	B	0.28638	0.092	T	0.03112	-1.1071	10	0.62326	D	0.03	.	17.9913	0.89170	0.0:0.0:1.0:0.0	.	134	A6NDL8	O6C68_HUMAN	I	139;134	ENSP00000368983:M139I;ENSP00000448811:M134I	ENSP00000368983:M139I	M	+	3	0	OR6C68	54172830	1.000000	0.71417	0.993000	0.49108	0.014000	0.08584	3.745000	0.55119	2.648000	0.89879	0.603000	0.83216	ATG	OR6C68	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205327		0.403	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	-	0	53	0	G			55886563	1	tier1	-	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	55886563	G	T	55886563	3	4	94	1	0	0	0	0	1	0	0	0	11235	1290	45	3	419	3	OR6C68	12	55886563	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1519409	55886563	77965332	157	27072											
NXPH4	11247	genome.wustl.edu	37	chr12	57610780	57610780	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcccggaatggttcctcTtgctctttggcccgtggctc	2	14	11	14	2	2	0	0	0	2	0	5	1	4	1	3	4	2	4	3	4	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:57610780T>A	ENST00000349394.5	+	1	203	c.28T>A	c.(28-30)Ttg>Atg	p.L10M		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	10					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						ATGGTTCCTCTTGCTCTTTGG	0.711																																																	0													28	28	28					12																	57610780		2198	4298	6496	SO:0001583	missense	0			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.28T>A	12.37:g.57610780T>A	ENSP00000333593:p.Leu10Met		A8K4I4|Q7Z6L3|Q8N462	Missense_Mutation	SNP	pfam_NXPH/NXPE,pirsf_Neurexophilin	p.L10M	ENST00000349394.5	37	c.28	CCDS8933.1	12	.	.	.	.	.	.	.	.	.	.	T	29.8	5.036008	0.93630	.	.	ENSG00000182379	ENST00000349394	.	.	.	2.78	0.245	0.15512	.	.	.	.	.	T	0.18467	0.0443	N	0.08118	0	0.23445	N	0.997667	D	0.59357	0.985	P	0.48677	0.586	T	0.11717	-1.0576	8	0.87932	D	0	0.6683	4.7965	0.13276	0.0:0.3154:0.0:0.6846	.	10	O95158	NXPH4_HUMAN	M	10	.	ENSP00000333593:L10M	L	+	1	2	NXPH4	55897047	0.098000	0.21812	0.997000	0.53966	0.992000	0.81027	-0.085000	0.11250	0.221000	0.20879	0.403000	0.27427	TTG	NXPH4	-	pirsf_Neurexophilin	ENSG00000182379		0.711	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXPH4	HGNC	protein_coding	OTTHUMT00000412474.1	-	0	43	0	T	NM_007224		57610780	1	tier1	-	no_errors	ENST00000349394	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.935	A	A	57610780	T	A	57610780	3	1	94	1	0	0	0	0	1	0	0	0	10832	1606	56	5	30	5	NXPH4	12	57610780	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	1724217	57610780	76241115	158	27073											
LRRIQ1	84125	genome.wustl.edu	37	chr12	85492201	85492201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagttaattaatacaaaaGgtctttgtgatacacctacc	15	13	5	8	0	2	1	1	1	1	0	2	1	2	1	2	1	3	1	2	1	7	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:85492201G>T	ENST00000393217.2	+	12	3017	c.2956G>T	c.(2956-2958)Ggt>Tgt	p.G986C		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	986										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATACAAAAGGTCTTTGTGA	0.333																																																	0													73	73	73					12																	85492201		2203	4298	6501	SO:0001583	missense	0			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2956G>T	12.37:g.85492201G>T	ENSP00000376910:p.Gly986Cys		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.G986C	ENST00000393217.2	37	c.2956	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230481	0.79688	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.25579	1.79	4.83	4.83	0.62350	.	0.144445	0.46758	D	0.000278	T	0.52403	0.1732	M	0.71206	2.165	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57510	-0.7799	10	0.87932	D	0	.	18.2873	0.90118	0.0:0.0:1.0:0.0	.	986;961	Q96JM4;C9JI57	LRIQ1_HUMAN;.	C	986;961;986	ENSP00000376910:G986C	ENSP00000256007:G986C	G	+	1	0	LRRIQ1	84016332	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.700000	0.74619	2.372000	0.80975	0.561000	0.74099	GGT	LRRIQ1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133640		0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	HGNC	protein_coding	OTTHUMT00000388249.2	-	0	62	0	G	NM_032165		85492201	1	tier1	-	no_errors	ENST00000393217	ensembl	human	known	74_37	missense	13.56	51	8	SNP	1.000	T	T	85492201	G	T	85492201	3	4	94	1	0	0	0	0	1	0	0	0	9064	1000	35	3	2998	3	LRRIQ1	12	85492201	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	27881421	85492201	48359694	159	27074											
ATP2B1	490	genome.wustl.edu	37	chr12	89992491	89992491	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccccctgaatggaactTccactctggaaagcattcac	12	8	8	13	0	2	2	1	1	1	1	3	4	3	4	3	2	3	1	3	2	3	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:89992491T>G	ENST00000359142.3	-	20	3605	c.3381A>C	c.(3379-3381)ggA>ggC	p.G1127G	ATP2B1_ENST00000393164.2_Intron|ATP2B1_ENST00000261173.2_Intron|ATP2B1_ENST00000428670.3_Intron|ATP2B1_ENST00000348959.3_Intron	NM_001001323.1	NP_001001323.1	P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1127	Calmodulin-binding subdomain B.				blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GAATGGAACTTCCACTCTGGA	0.468																																																	0													177	172	174					12																	89992491		1942	4142	6084	SO:0001819	synonymous_variant	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"ATPases / P-type"	814	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 1"	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000359142.3:c.3381A>C	12.37:g.89992491T>G			Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATP_Ca_trans_C,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.G1127	ENST00000359142.3	37	c.3381	CCDS41817.1	12																																																																																			ATP2B1	-	pfam_ATP_Ca_trans_C	ENSG00000070961		0.468	ATP2B1-002	KNOWN	basic|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406652.1		0	21	0	T	NM_001682		89992491	-1			no_errors	ENST00000359142	ensembl	human	known	74_37	silent	12.50	28	4	SNP	1.000	G	G	89992491	T	G	89992491	2	3	94	1	0	0	0	0	0	0	0	1	1140	1770	62	4		4	ATP2B1	12	89992491	Silent	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	4500290	89992491	43859404	160	27075											
SSH1	54434	genome.wustl.edu	37	chr12	109186396	109186396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcatcctcaggggaaGgcagaagggggtctgagagt	10	8	16	7	0	3	2	2	1	1	2	4	4	4	3	1	5	0	2	1	5	2	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:109186396G>T	ENST00000326495.5	-	14	1652	c.1559C>A	c.(1558-1560)cCt>cAt	p.P520H	SSH1_ENST00000326470.5_Missense_Mutation_p.P531H|SSH1_ENST00000551165.1_Missense_Mutation_p.P520H|SSH1_ENST00000360239.3_Missense_Mutation_p.P208H	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	520					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCAGGGGAAGGCAGAAGGGG	0.652																																																	0													42	48	46					12																	109186396		2202	4297	6499	SO:0001583	missense	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"	30579	protein-coding gene	gene with protein product		606778	"slingshot homolog 1 (Drosophila)"			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1559C>A	12.37:g.109186396G>T	ENSP00000315713:p.Pro520His		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.P520H	ENST00000326495.5	37	c.1559	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294603	0.23564	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.12255	2.87;2.73;2.72;2.7	4.75	-9.26	0.00662	.	0.729507	0.13272	N	0.400450	T	0.02688	0.0081	N	0.01705	-0.755	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.08055	0.001;0.002;0.0;0.003	T	0.30794	-0.9966	10	0.13853	T	0.58	3.8811	4.4576	0.11650	0.0922:0.218:0.4984:0.1914	.	531;520;520;208	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	H	208;520;520;531	ENSP00000353374:P208H;ENSP00000315713:P520H;ENSP00000448824:P520H;ENSP00000326107:P531H	ENSP00000326107:P531H	P	-	2	0	SSH1	107710525	0.255000	0.24002	0.000000	0.03702	0.013000	0.08279	-0.041000	0.12084	-1.979000	0.00992	0.655000	0.94253	CCT	SSH1	-	NULL	ENSG00000084112		0.652	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1		0	77	0	G	NM_018984		109186396	-1			no_errors	ENST00000326495	ensembl	human	known	74_37	missense	5.26	71	4	SNP	0.000	T	T	109186396	G	T	109186396	3	4	94	1	0	0	0	0	1	0	0	0	15231	1000	35	3	1784	3	SSH1	12	109186396	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	19193905	109186396	24665499	161	27076											
C12orf51	283450	genome.wustl.edu	37	chr12	112747374	112747374	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcaactgacctgagagtaCcatgtaatccagatcccaat	14	9	7	11	0	0	3	0	2	0	2	2	4	2	3	4	0	3	3	4	0	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:112747374C>T	ENST00000430131.2	-	0	979				HECTD4_ENST00000377560.5_Missense_Mutation_p.G195D|HECTD4_ENST00000550722.1_Missense_Mutation_p.G195D			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCTGAGAGTACCATGTAATCC	0.448																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.-167G>A	12.37:g.112747374C>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.G195D	ENST00000430131.2	37	c.584		12	.	.	.	.	.	.	.	.	.	.	C	31	5.081359	0.94050	.	.	ENSG00000173064	ENST00000377560;ENST00000550722	T;T	0.75938	-0.98;0.06	5.68	5.68	0.88126	.	.	.	.	.	T	0.70937	0.3281	N	0.14661	0.345	0.80722	D	1	.	.	.	.	.	.	T	0.75554	-0.3277	7	0.87932	D	0	.	17.9793	0.89136	0.0:1.0:0.0:0.0	.	.	.	.	D	195	ENSP00000366783:G195D;ENSP00000449784:G195D	ENSP00000366783:G195D	G	-	2	0	C12orf51	111231757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.325000	0.79124	2.687000	0.91594	0.563000	0.77884	GGT	HECTD4	-	NULL	ENSG00000173064		0.448	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	53	0	C	NM_173813		112747374	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	T	T	112747374	C	T	112747374	1	4	94	0	1	0	0	0	0	0	0	0	1701	507	18	3		3	C12orf51	12	112747374	5'UTR	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	3560978	112747374	21104521	162	27077											
C12orf52	84934	genome.wustl.edu	37	chr12	113624799	113624799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggggagctgtgagaccaCcccctcaaggggcagcaccc	11	3	13	14	0	1	1	1	1	0	1	1	3	1	2	4	4	2	3	4	4	2	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:113624799C>T	ENST00000548278.1	+	3	940	c.248C>T	c.(247-249)aCc>aTc	p.T83I	RP11-545P7.4_ENST00000552525.1_RNA|DDX54_ENST00000306014.5_5'Flank|C12orf52_ENST00000552495.1_Missense_Mutation_p.T107I|C12orf52_ENST00000549621.1_Missense_Mutation_p.T83I|DDX54_ENST00000314045.7_5'Flank	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		83					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TGTGAGACCACCCCCTCAAGG	0.592																																																	0													43	46	45					12																	113624799		2197	4299	6496	SO:0001583	missense	0																														ENST00000548278.1:c.248C>T	12.37:g.113624799C>T	ENSP00000449841:p.Thr83Ile		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Missense_Mutation	SNP	NULL	p.T83I	ENST00000548278.1	37	c.248	CCDS9166.1	12	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035106	0.35893	.	.	ENSG00000139405	ENST00000549621;ENST00000548278;ENST00000552495;ENST00000436053;ENST00000299731;ENST00000266813	T;T;T	0.32988	1.45;1.45;1.43	4.86	3.93	0.45458	.	0.660669	0.13473	N	0.385272	T	0.28863	0.0716	L	0.44542	1.39	0.09310	N	1	P;P;P	0.48016	0.904;0.904;0.904	P;P;P	0.45829	0.494;0.494;0.494	T	0.06844	-1.0804	10	0.34782	T	0.22	-8.2439	8.4293	0.32748	0.1709:0.6634:0.1656:0.0	.	83;107;83	Q96K30-2;F8VRG5;Q96K30	.;.;RITA_HUMAN	I	83;83;107;83;83;83	ENSP00000448289:T83I;ENSP00000449841:T83I;ENSP00000448680:T107I	ENSP00000266813:T83I	T	+	2	0	C12orf52	112109182	0.000000	0.05858	0.100000	0.21137	0.115000	0.19883	0.666000	0.25097	2.506000	0.84524	0.655000	0.94253	ACC	C12orf52	-	NULL	ENSG00000139405		0.592	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf52	HGNC	protein_coding	OTTHUMT00000405239.1	-	0	41	0	C			113624799	1	tier1	-	no_errors	ENST00000548278	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.001	T	T	113624799	C	T	113624799	3	4	94	1	0	0	0	0	1	0	0	0	1702	507	18	3	250	3	C12orf52	12	113624799	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	877425	113624799	20227096	163	27078											
TBX3	6926	genome.wustl.edu	37	chr12	115112511	115112511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaggtgagccttgaccgcgGggctgcccttgtcacggcag	7	7	15	12	3	1	2	1	2	0	0	1	2	1	2	3	4	2	2	3	4	1	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr12:115112511G>A	ENST00000257566.3	-	7	1618	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	TBX3_ENST00000349155.2_Missense_Mutation_p.P390L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	410					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P410L(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTGACCGCGGGGCTGCCCTT	0.701																																																	1	Substitution - Missense(1)	lung(1)											15	16	15					12																	115112511		2196	4281	6477	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"T-boxes"	11602	protein-coding gene	gene with protein product		601621	"ulnar mammary syndrome"	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1229C>T	12.37:g.115112511G>A	ENSP00000257566:p.Pro410Leu		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.P410L	ENST00000257566.3	37	c.1229	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918575	0.33908	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88975	-2.45;-2.44	4.99	4.99	0.66335	Transcription factor, T-box, region of unknown function (1);	4.659220	0.01760	U	0.030525	D	0.88880	0.6557	L	0.38838	1.175	0.47905	D	0.999548	B;B	0.27882	0.006;0.192	B;B	0.35413	0.02;0.202	T	0.67589	-0.5632	10	0.72032	D	0.01	.	13.769	0.63012	0.0:0.1666:0.8334:0.0	.	390;410	O15119-2;O15119	.;TBX3_HUMAN	L	390;410;410	ENSP00000257567:P390L;ENSP00000257566:P410L	ENSP00000257566:P410L	P	-	2	0	TBX3	113596894	0.989000	0.36119	0.952000	0.39060	0.208000	0.24298	4.245000	0.58734	2.310000	0.77875	0.591000	0.81541	CCC	TBX3	-	pfam_TBX	ENSG00000135111		0.701	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2		0	29	0	G	NM_016569, NM_005996		115112511	-1			no_errors	ENST00000257566	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.976	A	A	115112511	G	A	115112511	3	1	94	1	0	0	0	0	1	0	0	0	15706	1232	43	3	1010	3	TBX3	12	115112511	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1487712	115112511	18739384	164	27079											
MYCBP2	23077	genome.wustl.edu	37	chr13	77672299	77672299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttttcttttttgggcctgGtgtgtctattagcacatttt	5	22	8	6	0	2	0	0	0	2	0	2	0	2	0	1	2	1	1	1	2	2	9			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr13:77672299G>A	ENST00000544440.2	-	56	8893	c.8876C>T	c.(8875-8877)aCc>aTc	p.T2959I	MYCBP2_ENST00000360084.5_Missense_Mutation_p.T482I|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T2959I|MYCBP2_ENST00000407578.2_Missense_Mutation_p.T2997I|MYCBP2-AS1_ENST00000593933.1_RNA					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTGGGCCTGGTGTGTCTATT	0.408																																																	0													141	139	140					13																	77672299		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8876C>T	13.37:g.77672299G>A	ENSP00000444596:p.Thr2959Ile			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T2997I	ENST00000544440.2	37	c.8990		13	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031493	0.35797	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.51071	1.6;1.6;1.6;0.72	5.56	5.56	0.83823	.	0.216110	0.48767	D	0.000170	T	0.34978	0.0916	L	0.29908	0.895	0.38109	D	0.937499	B;B;B	0.27140	0.169;0.001;0.006	B;B;B	0.24394	0.053;0.002;0.005	T	0.33111	-0.9881	10	0.56958	D	0.05	.	10.0645	0.42295	0.149:0.0:0.851:0.0	.	345;2959;2959	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	I	2959;2997;2959;482	ENSP00000349892:T2959I;ENSP00000384288:T2997I;ENSP00000444596:T2959I;ENSP00000353197:T482I	ENSP00000349892:T2959I	T	-	2	0	MYCBP2	76570300	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.819000	0.48049	2.619000	0.88677	0.585000	0.79938	ACC	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.408	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	75	0	G	NM_015057		77672299	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.997	A	A	77672299	G	A	77672299	3	1	94	1	0	0	0	0	1	0	0	0	10056	1261	44	3	5158	3	MYCBP2	13	77672299	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		77672299	37497579	165	27080											
OR11H12	440153	genome.wustl.edu	37	chr14	19377744	19377744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactctttactacaacatatGcactgactataacagggaat	15	11	5	10	0	1	1	0	1	1	0	1	2	1	2	0	1	5	1	0	1	7	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:19377744G>A	ENST00000550708.1	+	1	223	c.151G>A	c.(151-153)Gca>Aca	p.A51T		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACAACATATGCACTGACTAT	0.403																																																	0													76	83	80					14																	19377744		1635	3342	4977	SO:0001583	missense	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.151G>A	14.37:g.19377744G>A	ENSP00000449002:p.Ala51Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A51T	ENST00000550708.1	37	c.151	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	g	3.520	-0.098030	0.07010	.	.	ENSG00000257115	ENST00000550708	T	0.02974	4.09	.	.	.	.	2.010050	0.03332	N	0.193590	T	0.02156	0.0067	N	0.11201	0.11	0.23665	N	0.997167	B	0.02656	0.0	B	0.08055	0.003	T	0.43829	-0.9367	8	0.42905	T	0.14	.	6.4784	0.22049	2.0E-4:0.0:0.9998:0.0	.	51	B2RN74	O11HC_HUMAN	T	51	ENSP00000449002:A51T	ENSP00000449002:A51T	A	+	1	0	CR383656.1	18447744	0.000000	0.05858	0.787000	0.31911	0.058000	0.15608	-3.915000	0.00335	0.413000	0.25759	0.064000	0.15345	GCA	OR11H12	-	prints_GPCR_Rhodpsn	ENSG00000257115		0.403	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	HGNC	protein_coding	OTTHUMT00000408402.1	-	0	132	0	G	NM_001013354		19377744	1	tier1	-	no_errors	ENST00000550708	ensembl	human	known	74_37	missense	19.28	67	16	SNP	0.131	A	A	19377744	G	A	19377744	3	1	94	1	0	0	0	0	1	0	0	0	10966	1319	46	3	153	3	OR11H12	14	19377744	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		19377744	87971796	166	27081											
FOXG1	2290	genome.wustl.edu	37	chr14	29237560	29237560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccactccttctccaccGccaacggcctgagcgtggac	9	6	8	18	3	1	1	0	1	1	0	3	2	2	2	6	2	3	0	6	2	2	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:29237560G>A	ENST00000313071.4	+	1	1274	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T	FOXG1_ENST00000382535.3_Missense_Mutation_p.A359T	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	359					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CTTCTCCACCGCCAACGGCCT	0.677																																																	0													86	78	81					14																	29237560		2203	4300	6503	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1075G>A	14.37:g.29237560G>A	ENSP00000339004:p.Ala359Thr		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A359T	ENST00000313071.4	37	c.1075	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262296	0.39995	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93488	-3.23;-3.23	4.21	3.14	0.36123	.	0.209202	0.41938	U	0.000795	D	0.82342	0.5016	N	0.08118	0	0.36709	D	0.880536	B	0.25390	0.125	B	0.19946	0.027	T	0.79502	-0.1777	10	0.20046	T	0.44	.	9.4924	0.38967	0.0:0.0:0.506:0.494	.	359	P55316	FOXG1_HUMAN	T	359	ENSP00000371975:A359T;ENSP00000339004:A359T	ENSP00000339004:A359T	A	+	1	0	FOXG1	28307311	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.100000	0.50275	2.042000	0.60477	0.491000	0.48974	GCC	FOXG1	-	NULL	ENSG00000176165		0.677	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	52	0	G			29237560	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	19.57	37	9	SNP	0.997	A	A	29237560	G	A	29237560	3	1	94	1	0	0	0	0	1	0	0	0	6031	1087	38	1	1077	1	FOXG1	14	29237560	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	9859816	29237560	78111980	167	27082											
CLEC14A	161198	genome.wustl.edu	37	chr14	38724628	38724628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgaagtccagagcggcGctgtgcagctggaagggcgc	8	5	18	10	3	0	2	0	1	0	1	1	4	1	4	1	4	3	3	1	4	2	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:38724628G>C	ENST00000342213.2	-	1	946	c.600C>G	c.(598-600)agC>agG	p.S200R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	200						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGAGCGGCGCTGTGCAGCT	0.642																																																	0													48	51	50					14																	38724628		2197	4296	6493	SO:0001583	missense	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.600C>G	14.37:g.38724628G>C	ENSP00000353013:p.Ser200Arg		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.S200R	ENST00000342213.2	37	c.600	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	12.43	1.937041	0.34189	.	.	ENSG00000176435	ENST00000342213	T	0.77620	-1.11	4.13	2.28	0.28536	.	0.172176	0.28104	N	0.016589	T	0.78291	0.4260	L	0.29908	0.895	0.31508	N	0.663918	D	0.89917	1.0	D	0.72075	0.976	T	0.77443	-0.2586	10	0.62326	D	0.03	-15.3739	8.6363	0.33950	0.1892:0.0:0.8108:0.0	.	200	Q86T13	CLC14_HUMAN	R	200	ENSP00000353013:S200R	ENSP00000353013:S200R	S	-	3	2	CLEC14A	37794379	1.000000	0.71417	0.560000	0.28344	0.065000	0.16274	1.474000	0.35398	0.691000	0.31592	-0.216000	0.12614	AGC	CLEC14A	-	NULL	ENSG00000176435		0.642	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1		0	41	0	G	NM_175060		38724628	-1			no_errors	ENST00000342213	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.965	C	C	38724628	G	C	38724628	3	2	94	1	0	0	0	0	1	0	0	0	3506	1078	38	5	876	5	CLEC14A	14	38724628	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	9487068	38724628	68624912	168	27083											
SEC23A	10484	genome.wustl.edu	37	chr14	39536423	39536423	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattttaaactgtccatgcAtgtctttggtaaagactctt	10	16	6	9	0	2	1	0	0	2	1	3	1	3	1	2	1	2	2	2	1	4	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:39536423A>T	ENST00000307712.6	-	10	1698	c.1181T>A	c.(1180-1182)aTg>aAg	p.M394K	SEC23A_ENST00000536508.1_Missense_Mutation_p.M268K|SEC23A_ENST00000537403.1_Missense_Mutation_p.M192K|SEC23A_ENST00000545328.2_Missense_Mutation_p.M365K|SEC23A_ENST00000553925.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	394					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CTGTCCATGCATGTCTTTGGT	0.353																																																	0													119	115	116					14																	39536423		2203	4300	6503	SO:0001583	missense	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"Sec23 (S. cerevisiae) homolog A"			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1181T>A	14.37:g.39536423A>T	ENSP00000306881:p.Met394Lys		B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.M394K	ENST00000307712.6	37	c.1181	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	A	7.038	0.562041	0.13498	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	D;D;D;D	0.87491	-2.03;-2.08;-2.26;-2.03	5.31	4.09	0.47781	.	0.252384	0.46758	D	0.000262	T	0.65502	0.2697	N	0.03608	-0.345	0.34914	D	0.747736	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.63229	-0.6684	10	0.07325	T	0.83	-8.9005	6.6274	0.22837	0.7662:0.156:0.0778:0.0	.	282;365;268;394	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	K	192;394;268;365;282	ENSP00000444193:M192K;ENSP00000306881:M394K;ENSP00000437715:M268K;ENSP00000445393:M365K	ENSP00000306881:M394K	M	-	2	0	SEC23A	38606174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.257000	0.43240	2.008000	0.58898	0.454000	0.30748	ATG	SEC23A	-	NULL	ENSG00000100934		0.353	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	-	0	81	0	A			39536423	-1	tier1	-	no_errors	ENST00000307712	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	39536423	A	T	39536423	3	4	94	1	0	0	0	0	1	0	0	0	14036	217	8	5	1160	5	SEC23A	14	39536423	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	811795	39536423	67813117	169	27084											
PCNX	22990	genome.wustl.edu	37	chr14	71571966	71571966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaggcttaggaaaggttGcggagctggatgtaacagtg	10	10	15	6	1	0	0	0	0	0	0	1	3	1	3	1	5	3	4	1	5	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:71571966G>T	ENST00000304743.2	+	33	6556	c.6110G>T	c.(6109-6111)tGc>tTc	p.C2037F	PCNX_ENST00000238570.5_Missense_Mutation_p.C1965F|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.C1926F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2037						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGGAAAGGTTGCGGAGCTGGA	0.428																																																	0													94	86	89					14																	71571966		2203	4300	6503	SO:0001583	missense	0			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"pecanex-like 1 (Drosophila)"	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6110G>T	14.37:g.71571966G>T	ENSP00000304192:p.Cys2037Phe		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.C2037F	ENST00000304743.2	37	c.6110	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.50|19.50	3.839320|3.839320	0.71488|0.71488	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.12672	.|2.96;3.04;2.66	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43077|0.43077	0.1231|0.1231	M|M	0.79693|0.79693	2.465|2.465	0.52501|0.52501	D|D	0.999951|0.999951	.|D;D;D	.|0.76494	.|0.999;0.997;0.998	.|D;D;D	.|0.83275	.|0.996;0.945;0.993	T|T	0.34976|0.34976	-0.9807|-0.9807	5|10	.|0.59425	.|D	.|0.04	.|.	19.4064|19.4064	0.94649|0.94649	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1965;1926;2037	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	S|F	1024|2037;1965;1926	.|ENSP00000304192:C2037F;ENSP00000238570:C1965F;ENSP00000396617:C1926F	.|ENSP00000238570:C1965F	A|C	+|+	1|2	0|0	PCNX|PCNX	70641719|70641719	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.476000|9.476000	0.97823|0.97823	2.582000|2.582000	0.87167|0.87167	0.655000|0.655000	0.94253|0.94253	GCG|TGC	PCNX	-	NULL	ENSG00000100731		0.428	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	-	0	69	0	G	NM_014982		71571966	1	tier1	-	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	71571966	G	T	71571966	3	4	94	1	0	0	0	0	1	0	0	0	11630	1319	46	3	6240	3	PCNX	14	71571966	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	32035543	71571966	35777574	170	27085											
ENTPD5	957	genome.wustl.edu	37	chr14	74436726	74436726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttacctgtaagactgtgCtgtctgcaaagccaaagcca	11	10	8	12	0	2	1	0	0	2	1	2	1	2	1	3	0	5	3	3	0	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:74436726C>T	ENST00000334696.6	-	15	1506	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	ENTPD5_ENST00000557325.1_Missense_Mutation_p.S396N	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	396					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TAAGACTGTGCTGTCTGCAAA	0.473																																																	0													154	133	140					14																	74436726		2203	4300	6503	SO:0001583	missense	0			AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"proto-oncogene CPH"	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1187G>A	14.37:g.74436726C>T	ENSP00000335246:p.Ser396Asn		A1L4C5|Q96RX0	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.S396N	ENST00000334696.6	37	c.1187	CCDS9825.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.714|2.714	-0.268204|-0.268204	0.05716|0.05716	.|.	.|.	ENSG00000187097|ENSG00000187097	ENST00000555829|ENST00000557325;ENST00000334696	.|T;T	.|0.11712	.|2.75;2.75	5.5|5.5	2.72|2.72	0.32119|0.32119	.|.	.|0.220224	.|0.53938	.|N	.|0.000044	T|T	0.04907|0.04907	0.0132|0.0132	N|N	0.11892|0.11892	0.195|0.195	0.80722|0.80722	D|D	1|1	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.14023	.|0.01;0.006	T|T	0.41161|0.41161	-0.9524|-0.9524	5|10	.|0.20519	.|T	.|0.43	-29.5131|-29.5131	4.693|4.693	0.12790|0.12790	0.0:0.4626:0.1487:0.3887|0.0:0.4626:0.1487:0.3887	.|.	.|396;396	.|O75356;G3V4I0	.|ENTP5_HUMAN;.	T|N	71|396	.|ENSP00000451810:S396N;ENSP00000335246:S396N	.|ENSP00000335246:S396N	A|S	-|-	1|2	0|0	ENTPD5|ENTPD5	73506479|73506479	0.992000|0.992000	0.36948|0.36948	0.962000|0.962000	0.40283|0.40283	0.967000|0.967000	0.64934|0.64934	0.326000|0.326000	0.19646|0.19646	0.441000|0.441000	0.26529|0.26529	0.655000|0.655000	0.94253|0.94253	GCA|AGC	ENTPD5	-	pfam_GDA1_CD39_NTPase	ENSG00000187097		0.473	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD5	HGNC	protein_coding	OTTHUMT00000412637.1		0	41	0	C	NM_001249		74436726	-1			no_errors	ENST00000334696	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.999	T	T	74436726	C	T	74436726	3	4	94	1	0	0	0	0	1	0	0	0	5158	797	28	3	107	3	ENTPD5	14	74436726	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	2864760	74436726	32912814	171	27086											
C14orf148	122945	genome.wustl.edu	37	chr14	77861025	77861025	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttctttggttagggaGatgccaaatgaagcacagta	11	11	13	6	0	1	2	0	1	1	1	1	3	1	2	1	3	2	5	1	3	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:77861025G>T	ENST00000380835.2	-	6	1195	c.1029C>A	c.(1027-1029)atC>atA	p.I343I		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	343					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGGTTAGGGAGATGCCAAATG	0.448																																																	0													152	137	141					14																	77861025		1568	3582	5150	SO:0001819	synonymous_variant	0			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 148"	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.1029C>A	14.37:g.77861025G>T			B3KQ47|O95435	Silent	SNP	NULL	p.I343	ENST00000380835.2	37	c.1029	CCDS45142.1	14																																																																																			NOXRED1	-	NULL	ENSG00000165555		0.448	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	-	0	77	0	G	NM_138791		77861025	-1	tier1	-	no_errors	ENST00000380835	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.595	T	T	77861025	G	T	77861025	2	4	94	1	0	0	0	0	0	0	0	1	1756	932	33	3		3	C14orf148	14	77861025	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	3424299	77861025	29488515	172	27087											
EML5	161436	genome.wustl.edu	37	chr14	89178750	89178750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgggccaaattccatttaCttcaaggcctgaaacacatg	12	11	7	11	0	1	1	1	1	0	0	2	1	2	1	3	2	2	0	3	2	4	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:89178750C>T	ENST00000380664.5	-	10	1521	c.1522G>A	c.(1522-1524)Gta>Ata	p.V508I	EML5_ENST00000352093.5_Missense_Mutation_p.V508I|EML5_ENST00000554922.1_Missense_Mutation_p.V508I			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	508						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATTCCATTTACTTCAAGGCCT	0.348																																																	0													74	70	71					14																	89178750		1831	4096	5927	SO:0001583	missense	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.1522G>A	14.37:g.89178750C>T	ENSP00000370039:p.Val508Ile		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V508I	ENST00000380664.5	37	c.1522	CCDS45148.1	14	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827285	0.90955	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.60171	0.43;0.21;0.47	4.97	4.97	0.65823	WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.82346	0.5017	M	0.93854	3.465	0.53688	D	0.999977	D	0.67145	0.996	D	0.79108	0.992	D	0.86358	0.1715	10	0.54805	T	0.06	-16.5038	18.4169	0.90574	0.0:1.0:0.0:0.0	.	508	Q05BV3	EMAL5_HUMAN	I	508	ENSP00000451998:V508I;ENSP00000298315:V508I;ENSP00000370039:V508I	ENSP00000298315:V508I	V	-	1	0	EML5	88248503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.562000	0.86427	0.650000	0.86243	GTA	EML5	-	superfamily_WD40_repeat_dom	ENSG00000165521		0.348	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	-	0	65	0	C			89178750	-1	tier1	-	no_errors	ENST00000554922	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	89178750	C	T	89178750	3	4	94	1	0	0	0	0	1	0	0	0	5116	565	20	3	4547	3	EML5	14	89178750	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	11317725	89178750	18170790	173	27088											
PSMC1	5700	genome.wustl.edu	37	chr14	90736682	90736682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctaaagatgacctctctGgtgctgacatcaaggtgaga	11	10	12	8	0	2	4	1	3	1	2	3	5	2	4	1	3	1	2	1	3	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:90736682G>T	ENST00000261303.8	+	10	1277	c.1174G>T	c.(1174-1176)Ggt>Tgt	p.G392C	PSMC1_ENST00000543772.2_Missense_Mutation_p.G319C	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGACCTCTCTGGTGCTGACAT	0.493																																																	0													40	30	34					14																	90736682		2203	4300	6503	SO:0001583	missense	0			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.1174G>T	14.37:g.90736682G>T	ENSP00000261303:p.Gly392Cys		B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.G392C	ENST00000261303.8	37	c.1174	CCDS32139.1	14	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591028	0.86851	.	.	ENSG00000100764	ENST00000261303;ENST00000543772	D;D	0.95588	-3.75;-3.75	5.17	5.17	0.71159	.	0.094593	0.64402	D	0.000001	D	0.98701	0.9564	H	0.97587	4.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.72032	D	0.01	-8.7761	19.0295	0.92950	0.0:0.0:1.0:0.0	.	392	P62191	PRS4_HUMAN	C	392;319	ENSP00000261303:G392C;ENSP00000445147:G319C	ENSP00000261303:G392C	G	+	1	0	PSMC1	89806435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.452000	0.97615	2.579000	0.87056	0.563000	0.77884	GGT	PSMC1	-	superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45	ENSG00000100764		0.493	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	HGNC	protein_coding	OTTHUMT00000411253.1		0	36	0	G	NM_002802		90736682	1			no_errors	ENST00000261303	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	90736682	G	T	90736682	3	4	94	1	0	0	0	0	1	0	0	0	12727	1348	47	3	1212	3	PSMC1	14	90736682	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1557932	90736682	16612858	174	27089											
CPSF2	53981	genome.wustl.edu	37	chr14	92609414	92609414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaataatccgtttcagtttCgccatctctctttatgtcat	9	17	5	10	2	4	0	2	0	2	0	7	1	5	0	2	0	0	2	2	0	3	5	rs376230933		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:92609414C>T	ENST00000298875.4	+	9	1201	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	306					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GTTTCAGTTTCGCCATCTCTC	0.413																																					Ovarian(78;28 1788 18702 44111)												0								C	CYS/ARG	0,4406		0,0,2203	107	92	97		916	4.4	1	14		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	CPSF2	NM_017437.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	306/783	92609414	1,13005	2203	4300	6503	SO:0001583	missense	0			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"cleavage and polyadenylation specific factor 2, 100kD subunit"			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.916C>T	14.37:g.92609414C>T	ENSP00000298875:p.Arg306Cys		B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.R306C	ENST00000298875.4	37	c.916	CCDS9902.1	14	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880687	0.72294	0.0	1.16E-4	ENSG00000165934	ENST00000298875	T	0.49139	0.79	5.29	4.4	0.53042	Beta-Casp domain (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.75266	-0.3378	10	0.87932	D	0	.	14.0026	0.64442	0.0:0.927:0.0:0.073	.	306	Q9P2I0	CPSF2_HUMAN	C	306	ENSP00000298875:R306C	ENSP00000298875:R306C	R	+	1	0	CPSF2	91679167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.654000	0.61469	1.226000	0.43582	0.491000	0.48974	CGC	CPSF2	-	pfam_Beta_Casp	ENSG00000165934		0.413	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1	-	0	112	0	C			92609414	1	tier1	-	no_errors	ENST00000298875	ensembl	human	known	74_37	missense	13.75	69	11	SNP	1.000	T	T	92609414	C	T	92609414	3	4	94	1	0	0	0	0	1	0	0	0	3832	884	31	1	942	1	CPSF2	14	92609414	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	1872732	92609414	14740126	175	27090											
OTUB2	78990	genome.wustl.edu	37	chr14	94503806	94503806	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcctgaaaacaggatttaCcggaggaaaatcgaggtgag	15	7	12	7	2	0	2	0	2	0	0	2	6	1	5	2	4	2	0	2	4	5	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:94503806C>A	ENST00000203664.5	+	2	293	c.84C>A	c.(82-84)taC>taA	p.Y28*	OTUB2_ENST00000553723.1_Nonsense_Mutation_p.Y28*	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 2	28					cellular amino acid metabolic process (GO:0006520)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		ACAGGATTTACCGGAGGAAAA	0.458											OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													60	60	60					14																	94503806		2203	4300	6503	SO:0001587	stop_gained	0			AF318378	CCDS9917.1	14q32.13-q32.2	2014-02-24	2014-02-24	2004-05-28		ENSG00000089723		"OTU domain containing"	20351	protein-coding gene	gene with protein product		608338	"chromosome 14 open reading frame 137", "OTU domain, ubiquitin aldehyde binding 2"	C14orf137		12704427, 19996094	Standard	NM_023112		Approved	FLJ21916, MGC3102	uc001ych.4	Q96DC9		ENST00000203664.5:c.84C>A	14.37:g.94503806C>A	ENSP00000203664:p.Tyr28*	163	Q6IA10|Q9H6T1	Nonsense_Mutation	SNP	pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU	p.Y28*	ENST00000203664.5	37	c.84	CCDS9917.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.961977	0.97151	.	.	ENSG00000089723	ENST00000203664;ENST00000553723	.	.	.	5.77	2.97	0.34412	.	0.305618	0.31963	N	0.006784	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1455	6.8608	0.24066	0.0:0.662:0.0:0.338	.	.	.	.	X	28	.	ENSP00000203664:Y28X	Y	+	3	2	OTUB2	93573559	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.223000	0.17719	0.912000	0.36772	0.655000	0.94253	TAC	OTUB2	-	pfam_Peptidase_C65_otubain,pirsf_Ubiquitin_thioesterase_Otubain	ENSG00000089723		0.458	OTUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUB2	HGNC	protein_coding	OTTHUMT00000412855.1	-	0	51	0	C			94503806	1	tier1	-	no_errors	ENST00000203664	ensembl	human	known	74_37	nonsense	23.08	30	9	SNP	1.000	A	A	94503806	C	A	94503806	4	1	94	1	0	0	0	0	0	1	0	0	11351	518	18	3	90	3	OTUB2	14	94503806	Nonsense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	1894392	94503806	12845734	176	27091											
TDRD9	122402	genome.wustl.edu	37	chr14	104462118	104462118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaatattgcagagagttCtgtcacagttccagatgtca	12	11	8	10	0	3	2	2	0	1	2	4	3	4	2	2	0	1	3	2	0	2	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr14:104462118C>T	ENST00000409874.4	+	12	1400	c.1352C>T	c.(1351-1353)tCt>tTt	p.S451F	TDRD9_ENST00000339063.5_Missense_Mutation_p.S451F	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	451	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GCAGAGAGTTCTGTCACAGTT	0.378																																																	0													205	170	182					14																	104462118		2203	4300	6503	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1352C>T	14.37:g.104462118C>T	ENSP00000387303:p.Ser451Phe		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S451F	ENST00000409874.4	37	c.1352	CCDS9987.2	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309991	0.81247	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.76968	-1.06;-1.06	5.06	5.06	0.68205	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000019	D	0.91811	0.7409	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94360	0.7587	10	0.87932	D	0	.	16.1956	0.82024	0.0:1.0:0.0:0.0	.	451;451	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	F	451	ENSP00000387303:S451F;ENSP00000343545:S451F	ENSP00000343545:S451F	S	+	2	0	TDRD9	103531871	1.000000	0.71417	0.933000	0.37362	0.993000	0.82548	6.304000	0.72800	2.333000	0.79357	0.467000	0.42956	TCT	TDRD9	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000156414		0.378	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	-	0	98	0	C	NM_153046		104462118	1	tier1	-	no_errors	ENST00000409874	ensembl	human	known	74_37	missense	18.18	81	18	SNP	1.000	T	T	104462118	C	T	104462118	3	4	94	1	0	0	0	0	1	0	0	0	15783	913	32	3	1398	3	TDRD9	14	104462118	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	9958312	104462118	2887422	177	27092											
SNRPN	6638	genome.wustl.edu	37	chr15	25223558	25223558	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttcctttccaggtccAcctcccccaggaatgcgtcc	6	12	6	17	1	1	0	0	0	1	0	6	1	6	1	7	2	1	0	7	2	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr15:25223558A>G	ENST00000400100.1	+	13	1580	c.690A>G	c.(688-690)ccA>ccG	p.P230P	SNRPN_ENST00000444203.2_Silent_p.P234P|SNRPN_ENST00000554227.2_Silent_p.P234P|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000400098.1_Silent_p.P230P|SNURF_ENST00000551312.2_Intron|SNRPN_ENST00000400097.1_Silent_p.P230P|SNRPN_ENST00000577565.1_Silent_p.P230P|SNRPN_ENST00000346403.6_Silent_p.P230P|SNRPN_ENST00000390687.4_Silent_p.P230P|SNHG14_ENST00000551631.2_RNA	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	230	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTCCAGGTCCACCTCCCCCAG	0.468									Prader-Willi syndrome																																								0													283	271	275					15																	25223558		1918	4121	6039	SO:0001819	synonymous_variant	0	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"tissue-specific splicing protein", "SM protein N", "small nuclear ribonucleoprotein N"	182279	"Prader-Willi syndrome chromosome region"	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.690A>G	15.37:g.25223558A>G			B3KVR1|P14648|P17135|Q0D2Q5	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN	p.P234	ENST00000400100.1	37	c.702	CCDS10017.1	15																																																																																			SNRPN	-	pirsf_snRNP-assoc_SmB/SmN	ENSG00000128739		0.468	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRPN	HGNC	protein_coding	OTTHUMT00000413849.10	-	0	26	0	A	NM_003097		25223558	1	tier1	-	no_errors	ENST00000444203	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.998	G	G	25223558	A	G	25223558	2	3	94	1	0	0	0	0	0	0	0	1	14915	146	6	4		4	SNRPN	15	25223558	Silent	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09		25223558	77307834	178	27093											
UBE3A	7337	genome.wustl.edu	37	chr15	25584312	25584312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaatcctttggcatacGtgatggccttcaacaatctc	10	12	7	12	1	2	1	1	1	1	0	4	1	3	1	3	2	3	1	3	2	4	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr15:25584312G>A	ENST00000397954.2	-	11	2599	c.2600C>T	c.(2599-2601)aCg>aTg	p.T867M	UBE3A_ENST00000438097.1_Missense_Mutation_p.T844M|UBE3A_ENST00000428984.2_Missense_Mutation_p.T844M|SNHG14_ENST00000554726.1_RNA|SNHG14_ENST00000452731.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.T844M|UBE3A_ENST00000232165.3_Missense_Mutation_p.T864M			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	867	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTGGCATACGTGATGGCCTT	0.284																																																	0													90	82	85					15																	25584312		2203	4300	6503	SO:0001583	missense	0			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"Angelman syndrome"	601623	"human papilloma virus E6-associated protein"	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.2600C>T	15.37:g.25584312G>A	ENSP00000381045:p.Thr867Met		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	p.T867M	ENST00000397954.2	37	c.2600	CCDS45192.1	15	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842550	0.91197	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.38	5.38	0.77491	HECT (4);	0.100303	0.64402	D	0.000002	T	0.72637	0.3485	M	0.69523	2.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70227	0.955;0.968	T	0.75309	-0.3363	10	0.72032	D	0.01	.	19.1347	0.93422	0.0:0.0:1.0:0.0	.	864;867	Q05086-3;Q05086	.;UBE3A_HUMAN	M	864;864;867;844;844	ENSP00000232165:T864M;ENSP00000381045:T867M;ENSP00000411258:T844M;ENSP00000401265:T844M	ENSP00000232165:T864M	T	-	2	0	UBE3A	23135405	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.522000	0.85027	0.460000	0.39030	ACG	UBE3A	-	pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT	ENSG00000114062		0.284	UBE3A-003	KNOWN	basic|CCDS	protein_coding	UBE3A	HGNC	protein_coding	OTTHUMT00000434203.1	-	0	58	0	G	NM_000462		25584312	-1	tier1	-	no_errors	ENST00000397954	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A	A	25584312	G	A	25584312	3	1	94	1	0	0	0	0	1	0	0	0	16928	1145	40	1	31	1	UBE3A	15	25584312	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	360754	25584312	76947080	179	27094											
TYRO3	7301	genome.wustl.edu	37	chr15	41859736	41859736	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttcagaccaagggtctagGtaagggatgcatagagcaga	13	8	13	7	0	2	3	1	0	1	3	2	4	2	4	1	3	2	3	1	3	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr15:41859736G>C	ENST00000263798.3	+	7	1185		c.e7+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAGGGTCTAGGTAAGGGATGC	0.617																																																	0													61	58	59					15																	41859736		2203	4300	6503	SO:0001630	splice_region_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.961+1G>C	15.37:g.41859736G>C			O14953|Q86VR3	Splice_Site	SNP	-	e7+1	ENST00000263798.3	37	c.961+1	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876992	0.72180	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5246	0.67878	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39647028	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.264000	0.78432	2.417000	0.82017	0.655000	0.94253	.	TYRO3	-	-	ENSG00000092445		0.617	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2		0	32	0	G		Intron	41859736	1			no_errors	ENST00000263798	ensembl	human	known	74_37	splice_site	5.41	35	2	SNP	1.000	C	C	41859736	G	C	41859736	5	2	94	1	0	0	0	0	0	0	1	0	16863	1275	44	5	988	5	TYRO3	15	41859736	Splice_Site	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	16275424	41859736	60671656	180	27095											
IGDCC3	9543	genome.wustl.edu	37	chr15	65623905	65623905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacagtacggtcagcCtggcactggcctgtgatgag	8	7	13	13	1	1	2	1	2	0	0	1	2	1	2	3	3	3	2	3	3	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr15:65623905C>A	ENST00000327987.4	-	8	1492	c.1241G>T	c.(1240-1242)aGg>aTg	p.R414M	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	414	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TACGGTCAGCCTGGCACTGGC	0.617																																																	0													41	40	40					15																	65623905		2201	4299	6500	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9700	protein-coding gene	gene with protein product		604184	"putative neuronal cell adhesion molecule"	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1241G>T	15.37:g.65623905C>A	ENSP00000332773:p.Arg414Met		O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R414M	ENST00000327987.4	37	c.1241	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440938	0.83993	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.67865	-0.29	4.92	4.92	0.64577	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.056875	0.64402	D	0.000001	T	0.78578	0.4305	L	0.51853	1.615	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81161	-0.1059	10	0.87932	D	0	-16.5646	18.1374	0.89624	0.0:1.0:0.0:0.0	.	414	Q8IVU1	IGDC3_HUMAN	M	414;277	ENSP00000332773:R414M	ENSP00000332773:R414M	R	-	2	0	IGDCC3	63410958	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.761000	0.85260	2.241000	0.73720	0.655000	0.94253	AGG	IGDCC3	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000174498		0.617	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0	32	0	C	NM_004884		65623905	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	A	A	65623905	C	A	65623905	3	1	94	1	0	0	0	0	1	0	0	0	7595	681	24	3	1231	3	IGDCC3	15	65623905	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	23764169	65623905	36907487	181	27096											
MAP2K5	5607	genome.wustl.edu	37	chr15	67878257	67878257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggggaacggaacataCatggcctgaaggtacgaatt	12	8	12	9	2	0	1	0	1	0	0	1	4	1	3	2	5	4	1	2	5	6	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr15:67878257C>T	ENST00000178640.5	+	5	979	c.352C>T	c.(352-354)Cat>Tat	p.H118Y	MAP2K5_ENST00000395476.2_Missense_Mutation_p.H118Y|MAP2K5_ENST00000354498.5_Missense_Mutation_p.H82Y|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	118	Interaction with MAPK7. {ECO:0000250}.		H -> R (in dbSNP:rs56241934). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ACGGAACATACATGGCCTGAA	0.363																																																	0													153	135	141					15																	67878257		2200	4298	6498	SO:0001583	missense	0			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.352C>T	15.37:g.67878257C>T	ENSP00000178640:p.His118Tyr		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H118Y	ENST00000178640.5	37	c.352	CCDS10224.1	15	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374157	0.61735	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000439036	T;T;T;T	0.72394	-0.46;-0.65;-0.6;0.76	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.74816	0.3766	L	0.29908	0.895	0.80722	D	1	P;D;D;D	0.62365	0.928;0.991;0.963;0.985	P;P;P;P	0.59115	0.477;0.852;0.477;0.574	T	0.75317	-0.3360	10	0.46703	T	0.11	-22.1766	19.3031	0.94150	0.0:1.0:0.0:0.0	.	82;118;118;118	B4DE43;Q13163-2;Q13163;B2RD76	.;.;MP2K5_HUMAN;.	Y	118;118;118;82;51	ENSP00000378859:H118Y;ENSP00000178640:H118Y;ENSP00000346493:H82Y;ENSP00000390196:H51Y	ENSP00000178640:H118Y	H	+	1	0	MAP2K5	65665311	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.576000	0.86940	0.467000	0.42956	CAT	MAP2K5	-	NULL	ENSG00000137764		0.363	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	-	0	92	0	C	NM_145162		67878257	1	tier1	-	no_errors	ENST00000178640	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	67878257	C	T	67878257	3	4	94	1	0	0	0	0	1	0	0	0	9278	478	17	3	370	3	MAP2K5	15	67878257	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	2254352	67878257	34653135	182	27097											
ADAMTSL3	57188	genome.wustl.edu	37	chr15	84611717	84611717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcggcagctgctaacGgatggcagctttttgaatct	8	12	11	10	2	1	1	0	1	1	0	2	2	1	2	1	3	4	5	1	3	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr15:84611717G>A	ENST00000286744.5	+	19	2597	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	ADAMTSL3_ENST00000567476.1_Silent_p.T791T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	791	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCTGCTAACGGATGGCAGCT	0.547																																																	0													73	71	72					15																	84611717		2203	4300	6503	SO:0001819	synonymous_variant	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2373G>A	15.37:g.84611717G>A			A1A566|A1A567|Q9ULI7	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS	p.T791	ENST00000286744.5	37	c.2373	CCDS10326.1	15																																																																																			ADAMTSL3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156218		0.547	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2		0	29	0	G	NM_207517		84611717	1			no_errors	ENST00000286744	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.023	A	A	84611717	G	A	84611717	2	1	94	1	0	0	0	0	0	0	0	1	276	1103	39	1		1	ADAMTSL3	15	84611717	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	16733460	84611717	17919675	183	27098											
SLCO3A1	28232	genome.wustl.edu	37	chr15	92706285	92706285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggagggaccctgtgcccGcaaaccagacacataggaca	12	4	13	12	1	0	1	0	0	0	1	0	4	0	4	3	4	2	1	3	4	2	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr15:92706285G>A	ENST00000318445.6	+	10	2267	c.2053G>A	c.(2053-2055)Gca>Aca	p.A685T	SLCO3A1_ENST00000424469.2_Intron|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	685					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CCCTGTGCCCGCAAACCAGAC	0.493																																																	0													83	91	88					15																	92706285		2198	4298	6496	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.2053G>A	15.37:g.92706285G>A	ENSP00000320634:p.Ala685Thr		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.A685T	ENST00000318445.6	37	c.2053	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722216	0.30503	.	.	ENSG00000176463	ENST00000318445;ENST00000555549	T	0.38401	1.14	5.32	3.31	0.37934	.	0.508271	0.20927	N	0.083171	T	0.16128	0.0388	N	0.08118	0	0.28073	N	0.932504	B	0.27971	0.196	B	0.12156	0.007	T	0.13872	-1.0493	10	0.19147	T	0.46	.	10.3627	0.44003	0.0:0.6005:0.2876:0.1119	.	685	Q9UIG8	SO3A1_HUMAN	T	685;404	ENSP00000320634:A685T	ENSP00000320634:A685T	A	+	1	0	SLCO3A1	90507289	0.917000	0.31117	0.908000	0.35775	0.996000	0.88848	0.673000	0.25203	1.125000	0.41998	0.655000	0.94253	GCA	SLCO3A1	-	NULL	ENSG00000176463		0.493	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1		0	40	0	G	NM_013272		92706285	1			no_errors	ENST00000318445	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.973	A	A	92706285	G	A	92706285	3	1	94	1	0	0	0	0	1	0	0	0	14773	1087	38	1	2091	1	SLCO3A1	15	92706285	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	8094568	92706285	9825107	184	27099											
ARHGDIG	398	genome.wustl.edu	37	chr16	332775	332775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggacgcaccacctgtcctgGgagtggggtctctgcatctg	6	9	14	12	1	2	0	0	0	2	0	4	2	3	2	3	4	1	2	3	4	0	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:332775G>T	ENST00000219409.3	+	6	714	c.639G>T	c.(637-639)tgG>tgT	p.W213C	PDIA2_ENST00000404312.1_5'Flank|PDIA2_ENST00000219406.6_5'Flank	NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	213					negative regulation of cell adhesion (GO:0007162)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ACCTGTCCTGGGAGTGGGGTC	0.647											OREG0003697	type=REGULATORY REGION|Gene=PDIA2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													31	29	30					16																	332775		2200	4298	6498	SO:0001583	missense	0			U82532	CCDS10404.1	16p13.3	2008-07-29			ENSG00000242173	ENSG00000242173			680	protein-coding gene	gene with protein product	"RhoGDI gamma"	602844				9113980, 11967128	Standard	NM_001176		Approved	RHOGDI-3	uc002cgm.1	Q99819	OTTHUMG00000064892	ENST00000219409.3:c.639G>T	16.37:g.332775G>T	ENSP00000219409:p.Trp213Cys	587	Q4TT69|Q96S29	Missense_Mutation	SNP	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.W213C	ENST00000219409.3	37	c.639	CCDS10404.1	16	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468112	0.63625	.	.	ENSG00000242173	ENST00000219409;ENST00000414650	.	.	.	4.11	4.11	0.48088	Immunoglobulin E-set (1);	0.000000	0.51477	U	0.000089	D	0.83912	0.5357	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87409	0.2374	8	.	.	.	-13.4629	13.8384	0.63424	0.0:0.0:1.0:0.0	.	213	Q99819	GDIR3_HUMAN	C	213;105	.	.	W	+	3	0	ARHGDIG	272776	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.064000	0.93933	1.847000	0.53656	0.563000	0.77884	TGG	ARHGDIG	-	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	ENSG00000242173		0.647	ARHGDIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIG	HGNC	protein_coding	OTTHUMT00000139321.1	-	0	63	0	G			332775	1	tier1	-	no_errors	ENST00000219409	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	332775	G	T	332775	3	4	94	1	0	0	0	0	1	0	0	0	892	1241	43	3	661	3	ARHGDIG	16	332775	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		332775	90021978	185	27100											
CACNA1H	8912	genome.wustl.edu	37	chr16	1248689	1248689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctgctgtgcttcttcGtcttcttcattttcggcatc	2	20	6	13	2	5	0	1	0	4	0	9	0	6	0	1	1	2	3	1	1	0	7	rs369630836		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:1248689G>T	ENST00000348261.5	+	6	966	c.718G>T	c.(718-720)Gtc>Ttc	p.V240F	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V240F|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V240F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	240					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GTGCTTCTTCGTCTTCTTCAT	0.622																																																	0													155	172	166					16																	1248689		2186	4273	6459	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.718G>T	16.37:g.1248689G>T	ENSP00000334198:p.Val240Phe		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.V240F	ENST00000348261.5	37	c.718	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159136	0.78226	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98666	-5.06;-5.06	3.65	3.65	0.41850	Ion transport (1);	0.227351	0.36066	N	0.002804	D	0.98197	0.9404	L	0.37897	1.145	0.42017	D	0.990968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97868	1.0284	10	0.36615	T	0.2	.	14.0887	0.64975	0.0:0.0:1.0:0.0	.	240;240	O95180-2;O95180	.;CAC1H_HUMAN	F	240	ENSP00000334198:V240F;ENSP00000351401:V240F	ENSP00000334198:V240F	V	+	1	0	CACNA1H	1188690	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	8.664000	0.91139	1.889000	0.54706	0.543000	0.68304	GTC	CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.622	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0	36	0	G	NM_001005407		1248689	1			no_errors	ENST00000348261	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T	T	1248689	G	T	1248689	3	4	94	1	0	0	0	0	1	0	0	0	2552	1145	40	2	736	2	CACNA1H	16	1248689	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	915914	1248689	89106064	186	27101											
KCTD5	54442	genome.wustl.edu	37	chr16	2749901	2749901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgtccaccatgtccgacgGctggaagttcgagcaggtga	8	8	15	10	3	0	1	0	1	0	0	3	4	2	2	3	4	1	3	3	4	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:2749901G>A	ENST00000301738.4	+	4	607	c.533G>A	c.(532-534)gGc>gAc	p.G178D	KCTD5_ENST00000564195.1_Silent_p.R147R	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	178				G -> R (in Ref. 1). {ECO:0000305}.	protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						ATGTCCGACGGCTGGAAGTTC	0.612																																					Ovarian(56;981 1456 4301 50892)												0													122	87	99					16																	2749901		2198	4300	6498	SO:0001583	missense	0			AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"potassium channel tetramerisation domain containing 5"			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.533G>A	16.37:g.2749901G>A	ENSP00000301738:p.Gly178Asp		D3DU96	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.G178D	ENST00000301738.4	37	c.533	CCDS10475.1	16	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494926	0.64186	.	.	ENSG00000167977	ENST00000301738	T	0.57752	0.38	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	M	0.88310	2.945	0.80722	D	1	D	0.59767	0.986	D	0.64237	0.923	T	0.79572	-0.1748	10	0.52906	T	0.07	-15.7816	15.8017	0.78456	0.0:0.0:1.0:0.0	.	178	Q9NXV2	KCTD5_HUMAN	D	178	ENSP00000301738:G178D	ENSP00000301738:G178D	G	+	2	0	KCTD5	2689902	1.000000	0.71417	0.996000	0.52242	0.893000	0.52053	9.191000	0.94940	2.318000	0.78349	0.561000	0.74099	GGC	KCTD5	-	NULL	ENSG00000167977		0.612	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD5	HGNC	protein_coding	OTTHUMT00000250909.2	-	0	39	0	G	NM_018992		2749901	1	tier1	-	no_errors	ENST00000301738	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	2749901	G	A	2749901	3	1	94	1	0	0	0	0	1	0	0	0	8139	1203	42	3	547	3	KCTD5	16	2749901	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1501212	2749901	87604852	187	27102											
PARN	5073	genome.wustl.edu	37	chr16	14540882	14540882	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactccgtcctccaggccaGcttcctcttgactaggactc	7	10	7	17	1	1	1	0	1	1	0	6	2	5	2	5	2	1	1	5	2	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:14540882G>T	ENST00000437198.2	-	23	1868	c.1727C>A	c.(1726-1728)gCt>gAt	p.A576D	PARN_ENST00000539279.1_Missense_Mutation_p.A401D|PARN_ENST00000420015.2_Missense_Mutation_p.A530D|PARN_ENST00000341484.7_Missense_Mutation_p.A515D	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	576					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CTCCAGGCCAGCTTCCTCTTG	0.493																																																	0													82	80	81					16																	14540882		1909	4128	6037	SO:0001583	missense	0			AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"deadenylation nuclease"	604212	"poly(A)-specific ribonuclease (deadenylation nuclease)"			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1727C>A	16.37:g.14540882G>T	ENSP00000387911:p.Ala576Asp		B2RCB3|B4DDG8|B4DWR4|B4E1H6	Missense_Mutation	SNP	pfam_RNase_CAF1,pfam_PolyA-riboNase_RNA_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd	p.A576D	ENST00000437198.2	37	c.1727	CCDS45419.1	16	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130571	0.37630	.	.	ENSG00000140694	ENST00000437198;ENST00000341484;ENST00000420015;ENST00000539279	.	.	.	5.51	2.33	0.28932	.	1.113020	0.06882	N	0.802654	T	0.22003	0.0530	N	0.24115	0.695	0.09310	N	1	P;B;B	0.35433	0.501;0.006;0.007	B;B;B	0.25140	0.058;0.005;0.007	T	0.14282	-1.0478	9	0.18710	T	0.47	-0.021	10.1596	0.42844	0.0:0.2778:0.5782:0.144	.	401;530;576	B4DSB0;B4DWR4;O95453	.;.;PARN_HUMAN	D	576;515;530;401	.	ENSP00000345456:A515D	A	-	2	0	PARN	14448383	0.957000	0.32711	0.001000	0.08648	0.862000	0.49288	1.186000	0.32078	0.319000	0.23209	0.650000	0.86243	GCT	PARN	-	NULL	ENSG00000140694		0.493	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARN	HGNC	protein_coding	OTTHUMT00000422383.1	-	0	61	0	G	NM_002582		14540882	-1	tier1	-	no_errors	ENST00000437198	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.034	T	T	14540882	G	T	14540882	3	4	94	1	0	0	0	0	1	0	0	0	11492	971	34	3	200	3	PARN	16	14540882	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	11790981	14540882	75813871	188	27103											
SCNN1G	6340	genome.wustl.edu	37	chr16	23197645	23197645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagaatctgcccgtgaCgggccctcaggcgccgacca	10	4	12	15	4	2	3	1	1	1	2	2	4	2	3	4	2	1	0	4	2	3	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:23197645C>T	ENST00000300061.2	+	2	196	c.53C>T	c.(52-54)aCg>aTg	p.T18M		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	18					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.T18M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCCCGTGACGGGCCCTCAG	0.612																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											53	56	55					16																	23197645		2197	4300	6497	SO:0001583	missense	0			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"Ion channels / Sodium channel, nonvoltage-gated", "Sodium channels"	10602	protein-coding gene	gene with protein product		600761	"sodium channel, nonvoltage-gated 1, gamma", "sodium channel, non-voltage-gated 1, gamma"			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.53C>T	16.37:g.23197645C>T	ENSP00000300061:p.Thr18Met		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.T18M	ENST00000300061.2	37	c.53	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	C	10.94	1.491946	0.26774	.	.	ENSG00000166828	ENST00000300061	T	0.72051	-0.62	5.43	-2.44	0.06502	.	0.938103	0.08828	N	0.887744	T	0.57902	0.2085	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.49387	0.609	T	0.58267	-0.7666	10	0.56958	D	0.05	-8.3931	14.0839	0.64942	0.1861:0.2155:0.5984:0.0	.	18	P51170	SCNNG_HUMAN	M	18	ENSP00000300061:T18M	ENSP00000300061:T18M	T	+	2	0	SCNN1G	23105146	0.003000	0.15002	0.008000	0.14137	0.041000	0.13682	-0.084000	0.11268	-0.754000	0.04715	0.561000	0.74099	ACG	SCNN1G	-	NULL	ENSG00000166828		0.612	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1		0	30	0	C	NM_001039		23197645	1			no_errors	ENST00000300061	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.002	T	T	23197645	C	T	23197645	3	4	94	1	0	0	0	0	1	0	0	0	13975	536	19	1	55	1	SCNN1G	16	23197645	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	8656763	23197645	67157108	189	27104											
SLC5A11	115584	genome.wustl.edu	37	chr16	24902396	24902396	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtactggtgcacggatcagGtacaggacagtggcctgagc	9	7	16	9	1	1	1	1	1	0	0	1	3	1	3	1	6	4	3	1	6	2	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:24902396G>T	ENST00000347898.3	+	9	1492		c.e9+1		SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000568579.1_Splice_Site	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CACGGATCAGGTACAGGACAG	0.502																																																	0													94	87	89					16																	24902396		2197	4300	6497	SO:0001630	splice_region_variant	0			AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"Solute carriers"	23091	protein-coding gene	gene with protein product		610238	"solute carrier family 5 (sodium/glucose cotransporter), member 11"			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.870+1G>T	16.37:g.24902396G>T				Splice_Site	SNP	-	e8+1	ENST00000347898.3	37	c.870+1	CCDS10625.1	16	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724388	0.89298	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0849	0.86609	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC5A11	24809897	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.687000	0.98667	2.643000	0.89663	0.650000	0.86243	.	SLC5A11	-	-	ENSG00000158865		0.502	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A11	HGNC	protein_coding	OTTHUMT00000214091.3	-	0	19	0	G	NM_052944	Intron	24902396	1	tier1	-	no_errors	ENST00000347898	ensembl	human	known	74_37	splice_site	23.08	10	3	SNP	1.000	T	T	24902396	G	T	24902396	5	4	94	1	0	0	0	0	0	0	1	0	14708	1275	44	3	901	3	SLC5A11	16	24902396	Splice_Site	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1704751	24902396	65452357	190	27105											
SPN	6693	genome.wustl.edu	37	chr16	29676104	29676104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcagacggaagtctcGccagggctccctggcgatgg	6	8	15	12	3	1	1	0	0	1	1	3	3	2	2	2	5	0	2	2	5	1	1	rs541956371		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:29676104G>T	ENST00000360121.3	+	2	1147	c.1055G>T	c.(1054-1056)cGc>cTc	p.R352L	SPN_ENST00000395389.2_Missense_Mutation_p.R352L	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0			DRA -> GQT (in a primary colorectal cancer).		anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CGGAAGTCTCGCCAGGGCTCC	0.672													g|||	1	0.000199681	0	0	5008	,	,		16576	0		0	False		,,,				2504	0.001																0													10	11	11					16																	29676104		2189	4290	6479	SO:0001583	missense	0			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"CD molecules"	11249	protein-coding gene	gene with protein product	"leukosialin"	182160	"sialophorin (gpL115, leukosialin, CD43)"			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.1055G>T	16.37:g.29676104G>T	ENSP00000353238:p.Arg352Leu		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	NULL	p.R352L	ENST00000360121.3	37	c.1055	CCDS10650.1	16	.	.	.	.	.	.	.	.	.	.	.	22.9	4.343745	0.82022	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.35789	1.3;1.29;1.3	5.18	-2.82	0.05787	.	0.664725	0.13241	N	0.402846	T	0.39118	0.1066	L	0.53249	1.67	0.09310	N	1	D	0.56287	0.975	P	0.55713	0.782	T	0.27054	-1.0085	10	0.49607	T	0.09	0.3642	5.5013	0.16831	0.5026:0.1459:0.3515:0.0	.	352	P16150	LEUK_HUMAN	L	352	ENSP00000378787:R352L;ENSP00000412907:R352L;ENSP00000353238:R352L	ENSP00000353238:R352L	R	+	2	0	SPN	29583605	0.000000	0.05858	0.697000	0.30258	0.820000	0.46376	-0.386000	0.07370	-0.304000	0.08843	0.467000	0.42956	CGC	SPN	-	NULL	ENSG00000197471		0.672	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPN	HGNC	protein_coding	OTTHUMT00000215001.2	-	0	29	0	G			29676104	1	tier1	-	no_errors	ENST00000360121	ensembl	human	known	74_37	missense	35.71	18	10	SNP	0.111	T	T	29676104	G	T	29676104	3	4	94	1	0	0	0	0	1	0	0	0	15120	1087	38	2	1057	2	SPN	16	29676104	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	4773708	29676104	60678649	191	27106											
ZNF785	146540	genome.wustl.edu	37	chr16	30596833	30596833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagaagtacacggccaCgtccgcgaagctcacggcgc	10	3	15	13	6	1	1	1	0	0	1	2	4	2	2	2	3	2	2	2	3	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:30596833C>T	ENST00000395216.2	-	1	259	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	ZNF785_ENST00000470110.1_Missense_Mutation_p.V34M|RP11-146F11.5_ENST00000563540.1_RNA|AC002310.7_ENST00000486926.1_RNA|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						TACACGGCCACGTCCGCGAAG	0.751																																																	0													14	16	15					16																	30596833		2191	4287	6478	SO:0001583	missense	0			BC040642	CCDS10685.1	16p11.2	2013-01-08			ENSG00000197162	ENSG00000197162		"Zinc fingers, C2H2-type", "-"	26496	protein-coding gene	gene with protein product						10493829	Standard	NM_152458		Approved	FLJ32130	uc002dyu.3	A8K8V0	OTTHUMG00000132398	ENST00000395216.2:c.100G>A	16.37:g.30596833C>T	ENSP00000378642:p.Val34Met		O75701|Q8IW91|Q8WV14|Q96MN0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V34M	ENST00000395216.2	37	c.100	CCDS10685.1	16	.	.	.	.	.	.	.	.	.	.	c	15.15	2.749038	0.49257	.	.	ENSG00000197162	ENST00000470110;ENST00000395216	T;T	0.10382	2.88;2.88	4.19	2.16	0.27623	Krueppel-associated box (4);	.	.	.	.	T	0.15869	0.0382	M	0.90198	3.095	0.21473	N	0.999679	P;P	0.38767	0.646;0.593	B;B	0.32533	0.147;0.064	T	0.19549	-1.0302	9	0.62326	D	0.03	.	5.5143	0.16898	0.0:0.6854:0.2032:0.1114	.	34;34	A8K8V0;A8K8V0-2	ZN785_HUMAN;.	M	34	ENSP00000420340:V34M;ENSP00000378642:V34M	ENSP00000378642:V34M	V	-	1	0	ZNF785	30504334	0.008000	0.16893	0.032000	0.17829	0.165000	0.22458	0.911000	0.28584	0.393000	0.25203	0.586000	0.80456	GTG	ZNF785	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197162		0.751	ZNF785-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF785	HGNC	protein_coding	OTTHUMT00000255529.2		0	50	0	C	NM_152458		30596833	-1			no_errors	ENST00000395216	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.864	T	T	30596833	C	T	30596833	3	4	94	1	0	0	0	0	1	0	0	0	18205	536	19	1	1129	1	ZNF785	16	30596833	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	920729	30596833	59757920	192	27107											
SRCAP	10847	genome.wustl.edu	37	chr16	30740303	30740303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggactccctggaggaaaAgcggaagcggcagcggtctg	10	4	16	11	3	1	0	0	0	1	0	2	4	2	4	2	6	3	1	2	6	3	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:30740303A>G	ENST00000262518.4	+	26	6060	c.5675A>G	c.(5674-5676)aAg>aGg	p.K1892R	SRCAP_ENST00000395059.2_Missense_Mutation_p.K1830R|SRCAP_ENST00000344771.4_Missense_Mutation_p.K1734R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1892					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTGGAGGAAAAGCGGAAGCGG	0.522																																																	0													66	75	72					16																	30740303		2197	4300	6497	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5675A>G	16.37:g.30740303A>G	ENSP00000262518:p.Lys1892Arg		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.K1892R	ENST00000262518.4	37	c.5675	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568915	0.28003	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91351	-2.81;-2.83;-2.83	5.93	4.84	0.62591	.	0.000000	0.56097	D	0.000032	T	0.79003	0.4373	N	0.04508	-0.205	0.22500	N	0.999049	B;B	0.22003	0.063;0.037	B;B	0.17433	0.018;0.005	T	0.68187	-0.5475	10	0.41790	T	0.15	-17.6467	11.169	0.48560	0.927:0.0:0.073:0.0	.	1830;1892	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	R	1892;1830;1734	ENSP00000262518:K1892R;ENSP00000378499:K1830R;ENSP00000343042:K1734R	ENSP00000262518:K1892R	K	+	2	0	SRCAP	30647804	0.999000	0.42202	1.000000	0.80357	0.973000	0.67179	1.917000	0.39996	1.071000	0.40834	0.482000	0.46254	AAG	SRCAP	-	NULL	ENSG00000080603		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1		0	66	0	A	NM_006662		30740303	1			no_errors	ENST00000262518	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	G	G	30740303	A	G	30740303	3	3	94	1	0	0	0	0	1	0	0	0	15182	72	3	4	5769	4	SRCAP	16	30740303	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	143470	30740303	59614450	193	27108											
DUS2L	54920	genome.wustl.edu	37	chr16	68112718	68112718	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggagccagggcctcccTgagggtcggctgggtgagga	5	6	19	11	2	0	2	0	2	0	0	2	4	1	4	3	6	2	1	3	6	0	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:68112718T>C	ENST00000565263.1	+	17	1805	c.1311T>C	c.(1309-1311)ccT>ccC	p.P437P	RP11-67A1.2_ENST00000548144.1_RNA|DUS2_ENST00000358896.6_Silent_p.P437P|DUS2_ENST00000432752.1_Silent_p.P402P	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	437					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										AGGGCCTCCCTGAGGGTCGGC	0.632																																																	0													29	33	32					16																	68112718		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"SMM1 homolog (S. cerevisiae)"	609707	"dihydrouridine synthase 2-like (SMM1, S. cerevisiae)", "dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)", "dihydrouridine synthase 2-like"	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.1311T>C	16.37:g.68112718T>C			A8K3G3|Q4H4D9	Silent	SNP	pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom	p.P437	ENST00000565263.1	37	c.1311	CCDS10859.1	16																																																																																			DUS2	-	NULL	ENSG00000167264		0.632	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS2	HGNC	protein_coding	OTTHUMT00000268869.2		0	65	0	T	NM_017803		68112718	1			no_errors	ENST00000358896	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.990	C	C	68112718	T	C	68112718	2	2	94	1	0	0	0	0	0	0	0	1	4820	1567	55	4		4	DUS2L	16	68112718	Silent	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	37372415	68112718	22242035	194	27109											
HAS3	3038	genome.wustl.edu	37	chr16	69149029	69149029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggacctgttcagtgagAcagagctagccttccttgtc	8	10	11	12	0	1	2	1	1	0	2	3	4	2	3	4	1	2	2	4	1	1	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:69149029A>G	ENST00000306560.1	+	4	1678	c.1522A>G	c.(1522-1524)Aca>Gca	p.T508A	HAS3_ENST00000569188.1_Missense_Mutation_p.T508A|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	508					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GTTCAGTGAGACAGAGCTAGC	0.557																																																	0													149	138	141					16																	69149029		2198	4300	6498	SO:0001583	missense	0			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.1522A>G	16.37:g.69149029A>G	ENSP00000304440:p.Thr508Ala		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.T508A	ENST00000306560.1	37	c.1522	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	A	8.237	0.806024	0.16467	.	.	ENSG00000103044	ENST00000306560	T	0.42131	0.98	5.76	5.76	0.90799	.	0.043114	0.85682	D	0.000000	T	0.33498	0.0865	L	0.46157	1.445	0.50171	D	0.99985	P	0.35745	0.518	B	0.30316	0.114	T	0.13442	-1.0509	10	0.10636	T	0.68	-13.7176	16.0247	0.80536	1.0:0.0:0.0:0.0	.	508	O00219	HAS3_HUMAN	A	508	ENSP00000304440:T508A	ENSP00000304440:T508A	T	+	1	0	HAS3	67706530	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.342000	0.59341	2.324000	0.78689	0.533000	0.62120	ACA	HAS3	-	NULL	ENSG00000103044		0.557	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2		0	54	0	A	NM_138612		69149029	1			no_errors	ENST00000306560	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	G	G	69149029	A	G	69149029	3	3	94	1	0	0	0	0	1	0	0	0	6990	275	10	4	1532	4	HAS3	16	69149029	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	1036311	69149029	21205724	195	27110											
DDX19A	55308	genome.wustl.edu	37	chr16	70398975	70398975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacaggaaaagtgattgAgcagatgggcaaattttacc	16	9	10	6	0	1	3	1	2	0	1	1	4	1	4	1	2	3	2	1	2	5	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:70398975A>T	ENST00000302243.7	+	7	708	c.545A>T	c.(544-546)gAg>gTg	p.E182V	RP11-529K1.3_ENST00000567706.1_Intron|DDX19A_ENST00000417604.2_Missense_Mutation_p.E151V|DDX19A_ENST00000443119.2_Missense_Mutation_p.E92V	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	182	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe. {ECO:0000250}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AAAGTGATTGAGCAGATGGGC	0.473																																																	0													122	110	114					16																	70398975		2198	4300	6498	SO:0001583	missense	0			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"DEAD-boxes"	25628	protein-coding gene	gene with protein product			"DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.545A>T	16.37:g.70398975A>T	ENSP00000306117:p.Glu182Val		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E182V	ENST00000302243.7	37	c.545	CCDS10889.1	16	.	.	.	.	.	.	.	.	.	.	A	26.1	4.700832	0.88924	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.16073	2.37;2.37;2.37	5.42	5.42	0.78866	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.45228	1.405	0.80722	D	1	D;B;D;P	0.76494	0.997;0.261;0.999;0.549	D;B;D;B	0.87578	0.954;0.221;0.998;0.392	T	0.01819	-1.1267	10	0.33141	T	0.24	.	13.4275	0.61035	1.0:0.0:0.0:0.0	.	92;151;182;183	B4DRZ7;B4DS24;Q9NUU7;Q7Z4W5	.;.;DD19A_HUMAN;.	V	182;74;151;92	ENSP00000306117:E182V;ENSP00000410243:E151V;ENSP00000399208:E92V	ENSP00000306209:E74V	E	+	2	0	DDX19A	68956476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.785000	0.91822	2.052000	0.61016	0.533000	0.62120	GAG	DDX19A	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000168872		0.473	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2		0	55	0	A	NM_018332		70398975	1			no_errors	ENST00000302243	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	70398975	A	T	70398975	3	4	94	1	0	0	0	0	1	0	0	0	4355	304	11	5	571	5	DDX19A	16	70398975	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	1249946	70398975	19955778	196	27111											
MC1R	4157	genome.wustl.edu	37	chr16	89985940	89985940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgagcgggagcaacGtgctggagacggccgtcatc	7	7	17	10	4	1	2	1	1	0	1	2	4	1	3	1	4	5	3	1	4	1	0	rs2228479	byFrequency	TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr16:89985940G>T	ENST00000555147.1	+	1	1654	c.274G>T	c.(274-276)Gtg>Ttg	p.V92L	TUBB3_ENST00000556922.1_Missense_Mutation_p.V92L|MC1R_ENST00000555427.1_Missense_Mutation_p.V92L|TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	92			V -> M (associated with a risk for developing melanoma; predominantly found in type I skin; shows a moderate and not significant decreased of cAMP production to NDP-MSH stimulation; dbSNP:rs2228479). {ECO:0000269|PubMed:10101176, ECO:0000269|PubMed:18987736, ECO:0000269|PubMed:8990005, ECO:0000269|PubMed:9302268, ECO:0000269|Ref.12}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGGGAGCAACGTGCTGGAGAC	0.637									Melanoma, Familial Clustering of																																								0			GRCh37	CM014730	MC1R	M	rs2228479						48	58	55					16																	89985940		2192	4284	6476	SO:0001583	missense	0	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"GPCR / Class A : Melanocortin receptors"	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.274G>T	16.37:g.89985940G>T	ENSP00000451605:p.Val92Leu		Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MSH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.V92L	ENST00000555147.1	37	c.274	CCDS56011.1	16	.	.	.	.	.	.	.	.	.	.	G	8.908	0.957964	0.18507	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.04454	3.62;3.62;3.62	4.86	0.165	0.14995	GPCR, rhodopsin-like superfamily (1);	0.270105	0.18936	U	0.127063	T	0.03136	0.0092	N	0.21617	0.685	0.27460	N	0.953181	B	0.06786	0.001	B	0.13407	0.009	T	0.43814	-0.9368	9	.	.	.	.	8.2022	0.31432	0.1814:0.3993:0.4193:0.0	.	92	Q01726	MSHR_HUMAN	L	92	ENSP00000451760:V92L;ENSP00000451560:V92L;ENSP00000451605:V92L	.	V	+	1	0	MC1R;RP11-566K11.2	88513441	0.750000	0.28316	0.359000	0.25824	0.182000	0.23217	1.008000	0.29872	0.100000	0.17581	-1.360000	0.01215	GTG	MC1R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000258839		0.637	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412014.1	-	0	31	0	G	NM_002386		89985940	1	tier1	-	no_errors	ENST00000555147	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	T	T	89985940	G	T	89985940	3	4	94	1	0	0	0	0	1	0	0	0	9401	1145	40	2	276	2	MC1R	16	89985940	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	19586965	89985940	368813	197	27112											
TNFSF12	8742	genome.wustl.edu	37	chr17	7460431	7460431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccaggtgcactttgatgagGggaaggctgtctacctgaag	9	9	14	9	0	1	3	0	3	1	0	1	4	1	4	2	4	2	2	2	4	3	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:7460431G>T	ENST00000293825.6	+	7	777	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	TNFSF12_ENST00000557233.1_Intron|TNFSF12_ENST00000462811.1_3'UTR|TNFSF13_ENST00000396542.1_5'Flank|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF13_ENST00000380535.4_5'Flank|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000483039.1_5'Flank|TNFSF13_ENST00000349228.4_5'Flank|TNFSF13_ENST00000396545.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	172					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)	p.G172R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTTTGATGAGGGGAAGGCTGT	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											99	71	80					17																	7460431		2203	4300	6503	SO:0001583	missense	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.514G>T	17.37:g.7460431G>T	ENSP00000293825:p.Gly172Trp		Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.G172W	ENST00000293825.6	37	c.514	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568015	0.65651	.	.	ENSG00000239697	ENST00000293825	D	0.94723	-3.5	4.5	3.51	0.40186	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	.	.	.	.	D	0.95153	0.8429	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94871	0.8030	9	0.72032	D	0.01	.	12.0545	0.53527	0.0879:0.0:0.9121:0.0	.	172	O43508	TNF12_HUMAN	W	172	ENSP00000293825:G172W	ENSP00000293825:G172W	G	+	1	0	TNFSF12	7401155	1.000000	0.71417	0.820000	0.32676	0.987000	0.75469	4.433000	0.59929	1.022000	0.39626	0.561000	0.74099	GGG	TNFSF12	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000239697		0.622	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12	HGNC	protein_coding	OTTHUMT00000226951.2		0	37	0	G	NM_003809		7460431	1			no_errors	ENST00000293825	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.986	T	T	7460431	G	T	7460431	3	4	94	1	0	0	0	0	1	0	0	0	16350	1232	43	3	540	3	TNFSF12	17	7460431	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		7460431	73734779	198	27113											
TP53	7157	genome.wustl.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3	rs397516435		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	GRCh37	CM941329	TP53	M							102	91	94					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R196*	ENST00000269305.4	37	c.586	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	58	0	G	NM_000546		7578263	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	22.81	43	13	SNP	1.000	A	A	7578263	G	A	7578263	4	1	94	1	0	0	0	0	0	1	0	0	16429	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	117832	7578263	73616947	199	27114											
TP53	7157	genome.wustl.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50	50	50					17																	7578406		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	26	0	C	NM_000546		7578406	-1	tier1	rs28934578	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	7578406	C	T	7578406	3	4	94	1	0	0	0	0	1	0	0	0	16429	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	143	7578406	73616804	200	27115											
CHD3	1107	genome.wustl.edu	37	chr17	7798335	7798335	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggatgatcacatggAgtactgccgcgtatgcaagg	11	7	16	7	2	1	1	1	1	0	0	1	5	1	5	1	5	3	3	1	5	3	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:7798335A>T	ENST00000330494.7	+	9	1520	c.1370A>T	c.(1369-1371)gAg>gTg	p.E457V	CHD3_ENST00000380358.4_Missense_Mutation_p.E516V|CHD3_ENST00000358181.4_Missense_Mutation_p.E457V	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	457					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATCACATGGAGTACTGCCGC	0.567																																																	0													192	134	154					17																	7798335		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1370A>T	17.37:g.7798335A>T	ENSP00000332628:p.Glu457Val		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E457V	ENST00000330494.7	37	c.1370	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	A	15.51	2.855221	0.51376	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.45276	0.9;0.9;0.9	5.11	5.11	0.69529	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.346100	0.21013	N	0.081656	T	0.43545	0.1252	N	0.08118	0	0.80722	D	1	D;D;D	0.76494	0.998;0.997;0.999	D;P;D	0.66351	0.943;0.879;0.915	T	0.55023	-0.8205	10	0.87932	D	0	-33.7845	14.7173	0.69280	1.0:0.0:0.0:0.0	.	457;457;516	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	V	516;457;457	ENSP00000369716:E516V;ENSP00000350907:E457V;ENSP00000332628:E457V	ENSP00000332628:E457V	E	+	2	0	CHD3	7739060	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.139000	0.94554	2.146000	0.66826	0.459000	0.35465	GAG	CHD3	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger	ENSG00000170004		0.567	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0	30	0	A	NM_001005273		7798335	1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	T	T	7798335	A	T	7798335	3	4	94	1	0	0	0	0	1	0	0	0	3333	304	11	5	1685	5	CHD3	17	7798335	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	219929	7798335	73396875	201	27116											
MFSD6L	162387	genome.wustl.edu	37	chr17	8702343	8702343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtaaagggtcaggaaCggggtcacgcaggcttcccg	9	6	15	11	3	3	0	3	0	0	0	4	1	4	1	1	6	1	3	1	6	3	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:8702343C>T	ENST00000329805.4	-	1	324	c.96G>A	c.(94-96)ccG>ccA	p.P32P		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	32						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GGGTCAGGAACGGGGTCACGC	0.667																																																	0													31	35	34					17																	8702343		2203	4297	6500	SO:0001819	synonymous_variant	0			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.96G>A	17.37:g.8702343C>T			Q6YL34|Q8NA76	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.P32	ENST00000329805.4	37	c.96	CCDS11146.1	17																																																																																			MFSD6L	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000185156		0.667	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6L	HGNC	protein_coding	OTTHUMT00000442554.1		0	42	0	C	NM_152599		8702343	-1			no_errors	ENST00000329805	ensembl	human	known	74_37	silent	23.68	29	9	SNP	1.000	T	T	8702343	C	T	8702343	2	4	94	1	0	0	0	0	0	0	0	1	9574	523	19	1		1	MFSD6L	17	8702343	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	904008	8702343	72492867	202	27117											
MYH13	8735	genome.wustl.edu	37	chr17	10212976	10212976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgtcgttccggctgcGgatttcagcatccagcacgc	6	8	13	14	5	1	0	1	0	0	0	4	1	3	1	2	3	3	4	2	3	0	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:10212976G>A	ENST00000418404.3	-	33	4991	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1610C|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1610					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1610C(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTCCGGCTGCGGATTTCAGCA	0.552																																																	2	Substitution - Missense(2)	lung(2)											53	54	53					17																	10212976		2175	4292	6467	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4828C>T	17.37:g.10212976G>A	ENSP00000404570:p.Arg1610Cys		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1610C	ENST00000418404.3	37	c.4828	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259609	0.59321	.	.	ENSG00000006788	ENST00000252172	D	0.82344	-1.6	4.18	-0.786	0.10946	Myosin tail (1);	.	.	.	.	D	0.92541	0.7631	H	0.95114	3.625	0.39981	D	0.974917	D	0.89917	1.0	D	0.72338	0.977	D	0.93749	0.7057	9	0.87932	D	0	.	13.7656	0.62992	0.0:0.0:0.2291:0.7709	.	1610	Q9UKX3	MYH13_HUMAN	C	1610	ENSP00000252172:R1610C	ENSP00000252172:R1610C	R	-	1	0	MYH13	10153701	0.006000	0.16342	0.991000	0.47740	0.919000	0.55068	-0.074000	0.11450	0.107000	0.17824	0.462000	0.41574	CGC	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1		0	34	0	G	NM_003802		10212976	-1			no_errors	ENST00000252172	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.997	A	A	10212976	G	A	10212976	3	1	94	1	0	0	0	0	1	0	0	0	10070	1116	39	1	1020	1	MYH13	17	10212976	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1510633	10212976	70982234	203	27118											
ZNF18	7566	genome.wustl.edu	37	chr17	11895864	11895864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacatctggatctcccCaggcaggatggtcagaaact	11	7	9	14	0	3	1	1	0	2	1	4	3	3	3	3	4	1	1	3	4	1	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:11895864C>T	ENST00000322748.3	-	4	887	c.283G>A	c.(283-285)Ggg>Agg	p.G95R	ZNF18_ENST00000454073.3_Missense_Mutation_p.G95R|ZNF18_ENST00000580306.2_Missense_Mutation_p.G95R	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	95	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TGGATCTCCCCAGGCAGGATG	0.547																																																	0													97	86	90					17																	11895864		2203	4300	6503	SO:0001583	missense	0			X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"Zinc fingers, C2H2-type", "-", "-", "-"	12969	protein-coding gene	gene with protein product		194524	"zinc finger protein 18 (KOX 11)"			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.283G>A	17.37:g.11895864C>T	ENSP00000315664:p.Gly95Arg		Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G95R	ENST00000322748.3	37	c.283	CCDS32568.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602388	0.46423	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T;T	0.04015	3.73;3.73	5.39	5.39	0.77823	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.136669	0.33875	N	0.004480	T	0.08582	0.0213	L	0.28054	0.825	0.39336	D	0.965492	B;P	0.36577	0.451;0.558	B;P	0.47402	0.246;0.546	T	0.21621	-1.0240	10	0.87932	D	0	-33.4085	14.6804	0.69012	0.0:1.0:0.0:0.0	.	95;95	P17022-2;P17022	.;ZNF18_HUMAN	R	95	ENSP00000391376:G95R;ENSP00000315664:G95R	ENSP00000315664:G95R	G	-	1	0	ZNF18	11836589	0.003000	0.15002	0.961000	0.40146	0.990000	0.78478	1.576000	0.36504	2.531000	0.85337	0.655000	0.94253	GGG	ZNF18	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000154957		0.547	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF18	HGNC	protein_coding	OTTHUMT00000441450.2	-	0	51	0	C	XM_085596		11895864	-1	tier1	-	no_errors	ENST00000322748	ensembl	human	known	74_37	missense	23.44	49	15	SNP	0.959	T	T	11895864	C	T	11895864	3	4	94	1	0	0	0	0	1	0	0	0	17795	594	21	3	1390	3	ZNF18	17	11895864	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	1682888	11895864	69299346	204	27119											
TEKT3	64518	genome.wustl.edu	37	chr17	15231347	15231347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttcatcgtgaactaggtCgattcccattctcttttctc	8	16	5	12	2	3	1	1	1	2	0	8	2	4	1	1	1	2	0	1	1	3	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:15231347C>T	ENST00000395930.1	-	4	811	c.625G>A	c.(625-627)Gac>Aac	p.D209N	TEKT3_ENST00000338696.2_Missense_Mutation_p.D209N	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	209					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TGAACTAGGTCGATTCCCATT	0.403																																																	0													233	184	200					17																	15231347		2203	4300	6503	SO:0001583	missense	0			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.625G>A	17.37:g.15231347C>T	ENSP00000379263:p.Asp209Asn		B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.D209N	ENST00000395930.1	37	c.625	CCDS11169.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339599	0.81911	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.05025	3.51;3.51;3.51	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	M	0.92367	3.3	0.58432	D	0.999999	P	0.47762	0.9	B	0.43658	0.426	T	0.18871	-1.0323	10	0.87932	D	0	-6.8125	16.4988	0.84252	0.0:1.0:0.0:0.0	.	209	Q9BXF9	TEKT3_HUMAN	N	209;209;43	ENSP00000379263:D209N;ENSP00000343995:D209N;ENSP00000443280:D43N	ENSP00000343995:D209N	D	-	1	0	TEKT3	15172072	1.000000	0.71417	0.857000	0.33713	0.501000	0.33797	6.696000	0.74598	2.437000	0.82529	0.491000	0.48974	GAC	TEKT3	-	pfam_Tektin	ENSG00000125409		0.403	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	HGNC	protein_coding	OTTHUMT00000130385.2	-	0	45	0	C	NM_031898		15231347	-1	tier1	-	no_errors	ENST00000338696	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.999	T	T	15231347	C	T	15231347	3	4	94	1	0	0	0	0	1	0	0	0	15801	884	31	1	871	1	TEKT3	17	15231347	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	3335483	15231347	65963863	205	27120											
ALDH3A1	218	genome.wustl.edu	37	chr17	19646651	19646651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagtggatgtagagctcGtcctgctgagtctggggcgt	5	11	16	9	3	1	2	0	1	1	1	4	4	3	3	2	3	2	3	2	3	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:19646651G>T	ENST00000457500.2	-	2	617	c.288C>A	c.(286-288)gaC>gaA	p.D96E	ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.D96E|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.D23E|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.D96E|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.D96E	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	96					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.D96D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGTAGAGCTCGTCCTGCTGAG	0.612																																																	1	Substitution - coding silent(1)	urinary_tract(1)											126	109	114					17																	19646651		2203	4300	6503	SO:0001583	missense	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"Aldehyde dehydrogenases"	405	protein-coding gene	gene with protein product	"aldehyde dehydrogenase, dimeric NADP-preferring"	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.288C>A	17.37:g.19646651G>T	ENSP00000411821:p.Asp96Glu		A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.D96E	ENST00000457500.2	37	c.288	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	G	15.55	2.867524	0.51588	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102;ENST00000426645	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	4.82	-6.17	0.02091	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.	.	.	.	T	0.80633	0.4660	M	0.74647	2.275	0.47476	D	0.999435	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.81551	-0.0881	9	0.72032	D	0.01	-13.962	8.11	0.30909	0.3935:0.0:0.4952:0.1114	.	96;96	A8K828;P30838	.;AL3A1_HUMAN	E	96;96;154;96;96;23;96;96	ENSP00000225740:D96E;ENSP00000378923:D96E;ENSP00000388469:D96E;ENSP00000411821:D96E;ENSP00000389766:D96E	ENSP00000225740:D96E	D	-	3	2	ALDH3A1	19587243	0.003000	0.15002	0.329000	0.25429	0.419000	0.31324	-1.202000	0.03023	-0.716000	0.04962	-1.581000	0.00855	GAC	ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000108602		0.612	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4		0	50	0	G	NM_000691		19646651	-1			no_errors	ENST00000225740	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.048	T	T	19646651	G	T	19646651	3	4	94	1	0	0	0	0	1	0	0	0	497	1136	40	2	1109	2	ALDH3A1	17	19646651	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	4415304	19646651	61548559	206	27121											
C17orf102	400591	genome.wustl.edu	37	chr17	32906277	32906277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcccagcgctagccggcGttgggaaggaaaaatcaaac	12	5	14	10	3	1	0	1	0	0	0	2	2	2	2	2	4	3	2	2	4	5	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:32906277G>A	ENST00000357754.1	-	1	111	c.23C>T	c.(22-24)aCg>aTg	p.T8M	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	8										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GCTAGCCGGCGTTGGGAAGGA	0.657																																																	0													9	12	11					17																	32906277		1808	4027	5835	SO:0001583	missense	0				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.23C>T	17.37:g.32906277G>A	ENSP00000350392:p.Thr8Met		A5PKX0|Q6ZTB3	Missense_Mutation	SNP	NULL	p.T8M	ENST00000357754.1	37	c.23	CCDS42297.1	17	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516160	0.27123	.	.	ENSG00000197322	ENST00000357754	T	0.37915	1.17	3.5	-2.52	0.06346	.	1.637620	0.04436	N	0.370142	T	0.19886	0.0478	N	0.14661	0.345	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.28870	-1.0030	10	0.87932	D	0	.	3.4658	0.07549	0.47:0.0:0.3505:0.1795	.	8	A2RUQ5	CQ102_HUMAN	M	8	ENSP00000350392:T8M	ENSP00000350392:T8M	T	-	2	0	C17orf102	29930390	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.271000	0.08572	-0.288000	0.09051	0.555000	0.69702	ACG	C17orf102	-	NULL	ENSG00000197322		0.657	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	-	0	50	0	G	NM_207454		32906277	-1	tier1	-	no_errors	ENST00000357754	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.000	A	A	32906277	G	A	32906277	3	1	94	1	0	0	0	0	1	0	0	0	1854	1145	40	1	488	1	C17orf102	17	32906277	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	13259626	32906277	48288933	207	27122											
ACACA	31	genome.wustl.edu	37	chr17	35564696	35564696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcatgccatagtggttgagGttggaggagaaggacattct	10	11	15	5	0	2	2	1	1	1	1	2	5	2	4	1	5	1	2	1	5	2	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:35564696G>T	ENST00000394406.2	-	31	3805	c.3615C>A	c.(3613-3615)aaC>aaA	p.N1205K	ACACA_ENST00000360679.3_Missense_Mutation_p.N1147K|ACACA_ENST00000353139.5_Missense_Mutation_p.N1242K|ACACA_ENST00000335166.5_Missense_Mutation_p.N1127K	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1205					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.N1147N(1)|p.N1242N(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTGGTTGAGGTTGGAGGAGA	0.468																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												2	Substitution - coding silent(2)	large_intestine(2)											153	124	134					17																	35564696		2203	4300	6503	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"acetyl-CoA carboxylase 1"	200350	"acetyl-Coenzyme A carboxylase alpha"	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3615C>A	17.37:g.35564696G>T	ENSP00000377928:p.Asn1205Lys		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.N1242K	ENST00000394406.2	37	c.3726	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	G	6.270	0.417889	0.11870	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.94862	-3.54;-3.53;-3.54;-3.53	5.51	5.51	0.81932	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.88303	0.6400	N	0.14661	0.345	0.80722	D	1	B;B;B	0.21821	0.016;0.061;0.022	B;B;B	0.22152	0.02;0.038;0.022	D	0.83697	0.0180	10	0.05959	T	0.93	-19.4031	19.7929	0.96466	0.0:0.0:1.0:0.0	.	1242;1205;1147	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	K	1242;1147;1205;1229;1127	ENSP00000344789:N1242K;ENSP00000353898:N1147K;ENSP00000377928:N1205K;ENSP00000335323:N1127K	ENSP00000335323:N1127K	N	-	3	2	ACACA	32638809	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.485000	0.73625	2.741000	0.93983	0.650000	0.86243	AAC	ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.468	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	-	0	56	0	G	NM_198836		35564696	-1	tier1	-	no_errors	ENST00000353139	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	T	T	35564696	G	T	35564696	3	4	94	1	0	0	0	0	1	0	0	0	106	1252	44	3	3529	3	ACACA	17	35564696	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	2658419	35564696	45630514	208	27123											
PIP4K2B	8396	genome.wustl.edu	37	chr17	36927513	36927513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtagtccatgatcttcaGctgtgccaagaactaggaag	11	10	11	9	0	2	2	1	1	1	1	3	3	3	3	2	1	3	3	2	1	5	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:36927513G>T	ENST00000269554.3	-	8	1300	c.820C>A	c.(820-822)Ctg>Atg	p.L274M		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	274	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ATGATCTTCAGCTGTGCCAAG	0.572																																																	0													93	77	82					17																	36927513		2203	4300	6503	SO:0001583	missense	0			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"phosphatidylinositol-4-phosphate 5-kinase, type II, beta"	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.820C>A	17.37:g.36927513G>T	ENSP00000269554:p.Leu274Met		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.L274M	ENST00000269554.3	37	c.820	CCDS11329.1	17	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267511	0.59540	.	.	ENSG00000141720	ENST00000269554	T	0.33654	1.4	5.29	5.29	0.74685	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.080159	0.51477	D	0.000081	T	0.43055	0.1230	L	0.49256	1.55	0.80722	D	1	P	0.36974	0.576	B	0.43360	0.417	T	0.28299	-1.0048	10	0.49607	T	0.09	-13.4518	17.7431	0.88412	0.0:0.0:1.0:0.0	.	274	P78356	PI42B_HUMAN	M	274	ENSP00000269554:L274M	ENSP00000269554:L274M	L	-	1	2	PIP4K2B	34181039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.602000	0.46257	2.776000	0.95493	0.644000	0.83932	CTG	PIP4K2B	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000141720		0.572	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1	-	0	43	0	G	NM_003559		36927513	-1	tier1	-	no_errors	ENST00000269554	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	36927513	G	T	36927513	3	4	94	1	0	0	0	0	1	0	0	0	11976	962	34	3	442	3	PIP4K2B	17	36927513	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1362817	36927513	44267697	209	27124											
MED24	9862	genome.wustl.edu	37	chr17	38187474	38187474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctgcttgccacattcttgGagcaggaagtttgtacagtc	8	12	10	11	0	1	0	0	0	1	0	2	2	1	2	2	2	4	4	2	2	2	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:38187474G>A	ENST00000394128.2	-	12	1173	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	MED24_ENST00000394127.2_Silent_p.L351L|MED24_ENST00000356271.3_Silent_p.L351L|MED24_ENST00000501516.3_Silent_p.L383L|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000394126.1_Silent_p.L389L	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	364					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACATTCTTGGAGCAGGAAGT	0.567																																																	0													64	50	55					17																	38187474		2197	4296	6493	SO:0001819	synonymous_variant	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1092C>T	17.37:g.38187474G>A			A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	pfam_Mediator_Med24_N	p.L364	ENST00000394128.2	37	c.1092	CCDS11359.1	17																																																																																			MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.567	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	-	0	54	0	G	NM_014815		38187474	-1	tier1	-	no_errors	ENST00000394128	ensembl	human	known	74_37	silent	27.40	53	20	SNP	0.948	A	A	38187474	G	A	38187474	2	1	94	1	0	0	0	0	0	0	0	1	9480	1161	41	3		3	MED24	17	38187474	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1259961	38187474	43007736	210	27125											
TOP2A	7153	genome.wustl.edu	37	chr17	38546372	38546372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcccttttagttccttttgGggcagccctttttttggcac	4	18	8	11	0	0	0	0	0	0	0	2	0	2	0	3	3	1	3	3	3	1	8			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:38546372G>A	ENST00000423485.1	-	34	4470	c.4312C>T	c.(4312-4314)Cca>Tca	p.P1438S	Y_RNA_ENST00000410949.1_RNA	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1438					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GTTCCTTTTGGGGCAGCCCTT	0.478																																																	0													63	57	59					17																	38546372		1868	4110	5978	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.4312C>T	17.37:g.38546372G>A	ENSP00000411532:p.Pro1438Ser		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.P1438S	ENST00000423485.1	37	c.4312	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677472	0.29783	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.72835	-0.69	5.46	5.46	0.80206	DTHCT (1);	0.210997	0.50627	D	0.000119	T	0.70622	0.3245	M	0.74881	2.28	0.44789	D	0.997797	P	0.34462	0.454	B	0.38156	0.266	T	0.65932	-0.6048	10	0.14656	T	0.56	.	13.9851	0.64328	0.0:0.1516:0.8484:0.0	.	1438	P11388	TOP2A_HUMAN	S	1438;1518;1461;1475	ENSP00000411532:P1438S	ENSP00000269577:P1518S	P	-	1	0	TOP2A	35799898	0.995000	0.38212	0.589000	0.28718	0.018000	0.09664	2.638000	0.46562	2.708000	0.92522	0.591000	0.81541	CCA	TOP2A	-	pfam_DTHCT	ENSG00000131747		0.478	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0	73	0	G			38546372	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	9.33	68	7	SNP	0.956	A	A	38546372	G	A	38546372	3	1	94	1	0	0	0	0	1	0	0	0	16413	1232	43	3	291	3	TOP2A	17	38546372	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	358898	38546372	42648838	211	27126											
TNS4	84951	genome.wustl.edu	37	chr17	38652298	38652298	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgggccagctcagccTgggagcccccagtccctggg	4	7	14	16	0	2	0	1	0	1	0	3	1	3	1	5	3	4	2	5	3	0	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:38652298T>A	ENST00000254051.6	-	2	538	c.380A>T	c.(379-381)cAg>cTg	p.Q127L		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	127					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CAGCTCAGCCTGGGAGCCCCC	0.572																																																	0													77	80	79					17																	38652298		2203	4300	6503	SO:0001583	missense	0			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.380A>T	17.37:g.38652298T>A	ENSP00000254051:p.Gln127Leu		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2	p.Q127L	ENST00000254051.6	37	c.380	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	T	7.310	0.614724	0.14129	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19250	2.16	4.77	-5.29	0.02747	.	4.216810	0.00357	N	0.000026	T	0.10465	0.0256	N	0.14661	0.345	0.09310	N	1	B	0.24186	0.099	B	0.22601	0.04	T	0.12293	-1.0553	10	0.27082	T	0.32	9.225	3.2491	0.06807	0.1122:0.3898:0.113:0.385	.	127	Q8IZW8	TENS4_HUMAN	L	127	ENSP00000254051:Q127L	ENSP00000254051:Q127L	Q	-	2	0	TNS4	35905824	0.000000	0.05858	0.012000	0.15200	0.003000	0.03518	-1.415000	0.02469	-1.408000	0.02040	-2.548000	0.00178	CAG	TNS4	-	NULL	ENSG00000131746		0.572	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	-	0	46	0	T	NM_032865		38652298	-1	tier1	-	no_errors	ENST00000254051	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.001	A	A	38652298	T	A	38652298	3	1	94	1	0	0	0	0	1	0	0	0	16392	1580	55	5	1815	5	TNS4	17	38652298	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	105926	38652298	42542912	212	27127											
KRT20	54474	genome.wustl.edu	37	chr17	39036471	39036471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagcatcaacctccaCattgacagtgttgcccagat	11	9	9	12	0	1	2	1	1	0	1	2	3	2	3	3	1	4	3	3	1	1	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:39036471C>T	ENST00000167588.3	-	4	714	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	225	Linker 12.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCAACCTCCACATTGACAGTG	0.458																																																	0													142	123	130					17																	39036471		2203	4300	6503	SO:0001583	missense	0			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.673G>A	17.37:g.39036471C>T	ENSP00000167588:p.Val225Met		B2R6W7	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.V225M	ENST00000167588.3	37	c.673	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878136	0.72294	.	.	ENSG00000171431	ENST00000167588	D	0.92299	-3.01	5.29	5.29	0.74685	Filament (1);	0.000000	0.53938	D	0.000046	D	0.96097	0.8728	M	0.79123	2.44	0.53688	D	0.999974	D	0.89917	1.0	D	0.81914	0.995	D	0.96481	0.9356	10	0.87932	D	0	.	18.9237	0.92536	0.0:1.0:0.0:0.0	.	225	P35900	K1C20_HUMAN	M	225	ENSP00000167588:V225M	ENSP00000167588:V225M	V	-	1	0	KRT20	36289997	1.000000	0.71417	0.510000	0.27712	0.392000	0.30506	7.331000	0.79192	2.469000	0.83416	0.491000	0.48974	GTG	KRT20	-	pfam_IF,prints_Keratin_I	ENSG00000171431		0.458	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2	-	0	37	0	C			39036471	-1	tier1	-	no_errors	ENST00000167588	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	39036471	C	T	39036471	3	4	94	1	0	0	0	0	1	0	0	0	8485	478	17	3	621	3	KRT20	17	39036471	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	384173	39036471	42158739	213	27128											
STAT3	6774	genome.wustl.edu	37	chr17	40483492	40483492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagataggagtacttacttGtcaatgcacactttaatttt	13	16	6	6	0	1	1	1	0	0	1	1	2	1	2	0	1	3	2	0	1	6	9			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:40483492G>A	ENST00000264657.5	-	11	1419	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	STAT3_ENST00000585517.1_Silent_p.D369D|STAT3_ENST00000404395.3_Silent_p.D369D|STAT3_ENST00000588969.1_Silent_p.D369D|STAT3_ENST00000389272.3_Silent_p.D271D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	369					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GTACTTACTTGTCAATGCACA	0.323									Hyperimmunoglobulin E Recurrent Infection Syndrome																																								0													77	80	79					17																	40483492		2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"SH2 domain containing"	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1107C>T	17.37:g.40483492G>A			A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.D369	ENST00000264657.5	37	c.1107	CCDS32656.1	17																																																																																			STAT3	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000168610		0.323	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT3	HGNC	protein_coding	OTTHUMT00000319353.3	-	0	48	0	G	NM_139276, NM_003150		40483492	-1	tier1	-	no_errors	ENST00000264657	ensembl	human	known	74_37	silent	18.18	45	10	SNP	1.000	A	A	40483492	G	A	40483492	2	1	94	1	0	0	0	0	0	0	0	1	15313	1368	48	3		3	STAT3	17	40483492	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1447021	40483492	40711718	214	27129											
ITGA3	3675	genome.wustl.edu	37	chr17	48145589	48145589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagactacctggagacggGcatgtgccagctgggcacca	10	5	13	13	1	0	2	0	0	0	2	0	3	0	2	3	3	3	3	3	3	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:48145589G>A	ENST00000320031.8	+	4	914	c.584G>A	c.(583-585)gGc>gAc	p.G195D	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.G195D	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	195					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTGGAGACGGGCATGTGCCAG	0.592																																																	0													119	102	108					17																	48145589		2203	4300	6503	SO:0001583	missense	0			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"CD molecules", "Integrins"	6139	protein-coding gene	gene with protein product		605025	"antigen identified by monoclonal antibody J143"	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.584G>A	17.37:g.48145589G>A	ENSP00000315190:p.Gly195Asp		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G195D	ENST00000320031.8	37	c.584	CCDS11558.1	17	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031777	0.93575	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	D;D	0.92545	-3.06;-3.06	5.36	5.36	0.76844	.	0.049143	0.85682	D	0.000000	D	0.96611	0.8894	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70016	0.967;0.965	D	0.97270	0.9910	10	0.87932	D	0	.	17.8421	0.88718	0.0:0.0:1.0:0.0	.	195;195	P26006-1;P26006	.;ITA3_HUMAN	D	195;181;195	ENSP00000007722:G195D;ENSP00000315190:G195D	ENSP00000007722:G195D	G	+	2	0	ITGA3	45500588	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.465000	0.97660	2.486000	0.83907	0.650000	0.86243	GGC	ITGA3	-	NULL	ENSG00000005884		0.592	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1		0	36	0	G	NM_005501		48145589	1			no_errors	ENST00000320031	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	48145589	G	A	48145589	3	1	94	1	0	0	0	0	1	0	0	0	7904	1203	42	3	598	3	ITGA3	17	48145589	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	7662097	48145589	33049621	215	27130											
FOXJ1	2302	genome.wustl.edu	37	chr17	74133870	74133870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccacccgcttgggcagcGgctgtttgcgcttatgcccc	3	10	13	15	3	0	0	0	0	0	0	0	0	0	0	4	3	3	5	4	3	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:74133870G>A	ENST00000322957.6	-	3	1184	c.830C>T	c.(829-831)cCg>cTg	p.P277L	RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000585542.1_RNA	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	277				GWGAGEGRLGHKRKQPLPKRVAKVPR -> VWVQARAGWDI SPNTLCPRGGQGPA (in Ref. 2; CAA67729). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			CTTGGGCAGCGGCTGTTTGCG	0.701																																																	0													8	10	10					17																	74133870		2092	4132	6224	SO:0001583	missense	0			X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"Forkhead boxes"	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.830C>T	17.37:g.74133870G>A	ENSP00000323880:p.Pro277Leu		O00630	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.P277L	ENST00000322957.6	37	c.830	CCDS32739.1	17	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570842	0.45798	.	.	ENSG00000129654	ENST00000322957	D	0.95001	-3.58	4.78	4.78	0.61160	.	0.215403	0.49305	D	0.000155	D	0.92021	0.7472	M	0.68952	2.095	0.80722	D	1	P	0.37997	0.614	B	0.20955	0.032	D	0.92704	0.6177	10	0.56958	D	0.05	.	17.7978	0.88578	0.0:0.0:1.0:0.0	.	277	Q92949	FOXJ1_HUMAN	L	277	ENSP00000323880:P277L	ENSP00000323880:P277L	P	-	2	0	FOXJ1	71645465	1.000000	0.71417	0.947000	0.38551	0.924000	0.55760	4.942000	0.63547	2.197000	0.70478	0.462000	0.41574	CCG	FOXJ1	-	NULL	ENSG00000129654		0.701	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ1	HGNC	protein_coding	OTTHUMT00000449856.1	-	0	16	0	G	NM_001454		74133870	-1	tier1	-	no_errors	ENST00000322957	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.966	A	A	74133870	G	A	74133870	3	1	94	1	0	0	0	0	1	0	0	0	6035	1116	39	1	439	1	FOXJ1	17	74133870	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	25988281	74133870	7061340	216	27131											
RPTOR	57521	genome.wustl.edu	37	chr17	78704474	78704474	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgtcaagtccttcaagCagttcgcactacagcgggag	10	9	11	11	3	2	1	2	1	0	0	5	2	3	2	1	1	3	3	1	1	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr17:78704474C>T	ENST00000306801.3	+	5	984	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	RPTOR_ENST00000570891.1_Nonsense_Mutation_p.Q208*|RPTOR_ENST00000537330.1_Nonsense_Mutation_p.Q23*|RPTOR_ENST00000544334.2_Nonsense_Mutation_p.Q208*	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	208					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GTCCTTCAAGCAGTTCGCACT	0.577																																																	0													109	88	95					17																	78704474		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"WD repeat domain containing"	30287	protein-coding gene	gene with protein product	"regulatory associated protein of mTOR"	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.622C>T	17.37:g.78704474C>T	ENSP00000307272:p.Gln208*		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Nonsense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.Q208*	ENST00000306801.3	37	c.622	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	C	44	11.193373	0.99528	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	.	.	.	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5855	0.87980	0.0:1.0:0.0:0.0	.	.	.	.	X	23;208;208	.	ENSP00000307272:Q208X	Q	+	1	0	RPTOR	76319069	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.558000	0.82253	2.337000	0.79520	0.655000	0.94253	CAG	RPTOR	-	NULL	ENSG00000141564		0.577	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	-	0	35	0	C	NM_020761		78704474	1	tier1	-	no_errors	ENST00000306801	ensembl	human	known	74_37	nonsense	15.91	37	7	SNP	1.000	T	T	78704474	C	T	78704474	4	4	94	1	0	0	0	0	0	1	0	0	13710	711	25	3	640	3	RPTOR	17	78704474	Nonsense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	4570604	78704474	2490736	217	27132											
SETBP1	26040	genome.wustl.edu	37	chr18	42531877	42531877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacgctgtcccctgtgagcGagtcccacagtgaggagacg	8	7	13	13	3	1	3	1	2	0	1	3	5	3	3	3	1	1	1	3	1	0	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr18:42531877G>A	ENST00000282030.5	+	4	2868	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	858			E -> K (in ACML; somatic mutation in ACML and other myeloid malignancies). {ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959}.			nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCCTGTGAGCGAGTCCCACAG	0.572									Schinzel-Giedion syndrome																																								0													82	53	63					18																	42531877		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2572G>A	18.37:g.42531877G>A	ENSP00000282030:p.Glu858Lys		A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.E858K	ENST00000282030.5	37	c.2572	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414826	0.83449	.	.	ENSG00000152217	ENST00000282030	D	0.91011	-2.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.54753	D	0.999984	D	0.89917	1.0	D	0.85130	0.997	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	858	Q9Y6X0	SETBP_HUMAN	K	858	ENSP00000282030:E858K	ENSP00000282030:E858K	E	+	1	0	SETBP1	40785875	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GAG	SETBP1	-	NULL	ENSG00000152217		0.572	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	41	0	G	NM_001130110		42531877	1	tier1	-	no_errors	ENST00000282030	ensembl	human	known	74_37	missense	15.56	37	7	SNP	1.000	A	A	42531877	G	A	42531877	3	1	94	1	0	0	0	0	1	0	0	0	14174	1059	37	1	2775	1	SETBP1	18	42531877	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		42531877	35545371	218	27133											
KIAA1632	57724	genome.wustl.edu	37	chr18	43432583	43432583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtattcaacatactgcttaCttgatgccatggattcaaga	12	13	8	8	0	2	2	2	1	0	1	2	3	2	3	1	2	5	2	1	2	5	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr18:43432583C>T	ENST00000282041.5	-	44	7623	c.7589G>A	c.(7588-7590)aGt>aAt	p.S2530N		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2530					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATACTGCTTACTTGATGCCAT	0.443																																																	0													186	172	177					18																	43432583		1945	4139	6084	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"KIAA1632"	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.7589G>A	18.37:g.43432583C>T	ENSP00000282041:p.Ser2530Asn		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.S2530N	ENST00000282041.5	37	c.7589	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.470953	0.01044	.	.	ENSG00000152223	ENST00000282041;ENST00000540322	T	0.06768	3.26	6.02	5.07	0.68467	.	1.670800	0.02797	N	0.122720	T	0.05593	0.0147	N	0.11427	0.14	0.37490	D	0.916345	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.02654	T	1	-2.3998	9.7346	0.40379	0.0:0.7886:0.0:0.2114	.	2530	Q9HCE0	EPG5_HUMAN	N	2530;458	ENSP00000282041:S2530N	ENSP00000282041:S2530N	S	-	2	0	EPG5	41686581	0.996000	0.38824	0.990000	0.47175	0.050000	0.14768	0.407000	0.21049	1.386000	0.46466	0.650000	0.86243	AGT	EPG5	-	NULL	ENSG00000152223		0.443	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0	66	0	C	NM_020964		43432583	-1	tier1	-	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.998	T	T	43432583	C	T	43432583	3	4	94	1	0	0	0	0	1	0	0	0	8276	565	20	3	154	3	KIAA1632	18	43432583	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	900706	43432583	34644665	219	27134											
SERPINB5	5268	genome.wustl.edu	37	chr18	61160254	61160254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccttgtggttaatgctGcctactttgttggcaagtgg	8	15	11	7	0	0	0	0	0	0	0	1	0	1	0	2	3	3	4	2	3	4	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr18:61160254G>A	ENST00000382771.4	+	5	785	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	SERPINB5_ENST00000489441.1_Missense_Mutation_p.A165T|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	165					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A165T(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GGTTAATGCTGCCTACTTTGT	0.408																																																	1	Substitution - Missense(1)	lung(1)											153	146	148					18																	61160254		2203	4300	6503	SO:0001583	missense	0			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"Serine (or cysteine) peptidase inhibitors"	8949	protein-coding gene	gene with protein product	"protease inhibitor 5 (maspin)"	154790	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.493G>A	18.37:g.61160254G>A	ENSP00000372221:p.Ala165Thr		B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.A165T	ENST00000382771.4	37	c.493	CCDS32839.1	18	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602812	0.87157	.	.	ENSG00000206075	ENST00000382771	D	0.84370	-1.84	6.05	6.05	0.98169	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91260	0.7245	L	0.54323	1.7	0.54753	D	0.999983	D;P	0.89917	1.0;0.71	D;B	0.80764	0.994;0.201	D	0.90808	0.4699	10	0.66056	D	0.02	.	20.2037	0.98272	0.0:0.0:1.0:0.0	.	165;165	P36952;P36952-2	SPB5_HUMAN;.	T	165	ENSP00000372221:A165T	ENSP00000372221:A165T	A	+	1	0	SERPINB5	59311234	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.367000	0.59498	2.880000	0.98712	0.655000	0.94253	GCC	SERPINB5	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206075		0.408	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB5	HGNC	protein_coding	OTTHUMT00000280629.1		0	55	0	G	NM_002639		61160254	1			no_errors	ENST00000382771	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	61160254	G	A	61160254	3	1	94	1	0	0	0	0	1	0	0	0	14149	1319	46	3	507	3	SERPINB5	18	61160254	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	17727671	61160254	16916994	220	27135											
PTPRS	5802	genome.wustl.edu	37	chr19	5214445	5214445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaacgtgacctggatgaagCcgtaggtctccgtgcctctg	7	9	13	12	3	2	2	0	2	2	0	3	3	2	3	4	2	3	2	4	2	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:5214445C>T	ENST00000587303.1	-	29	4640	c.4541G>A	c.(4540-4542)gGc>gAc	p.G1514D	PTPRS_ENST00000262963.6_Missense_Mutation_p.G1494D|PTPRS_ENST00000348075.2_Missense_Mutation_p.G1476D|PTPRS_ENST00000588012.1_Missense_Mutation_p.G1476D|PTPRS_ENST00000592099.1_Missense_Mutation_p.G1067D|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.G1067D|PTPRS_ENST00000357368.4_Missense_Mutation_p.G1514D|PTPRS_ENST00000372412.4_Missense_Mutation_p.G1515D			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1514	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1514V(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CTGGATGAAGCCGTAGGTCTC	0.587																																																	1	Substitution - Missense(1)	ovary(1)											137	103	114					19																	5214445		2203	4300	6503	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4541G>A	19.37:g.5214445C>T	ENSP00000467537:p.Gly1514Asp		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.G1515D	ENST00000587303.1	37	c.4544	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333536	0.60853	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	3.12	3.12	0.35913	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	U	0.000004	T	0.69324	0.3098	M	0.90145	3.09	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.986;1.0;0.999;1.0;1.0	D;P;D;D;D;D	0.97110	1.0;0.815;1.0;0.92;1.0;1.0	T	0.78788	-0.2067	10	0.87932	D	0	.	14.721	0.69305	0.0:1.0:0.0:0.0	.	1096;1067;1071;1476;1514;1109	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	D	1109;1515;1514;1514;1505;1494;1476;1096;1071;1067	ENSP00000361489:G1515D;ENSP00000349932:G1514D;ENSP00000262963:G1494D;ENSP00000269907:G1476D;ENSP00000327313:G1067D	ENSP00000262963:G1494D	G	-	2	0	PTPRS	5165445	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	7.447000	0.80620	1.772000	0.52199	0.313000	0.20887	GGC	PTPRS	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000105426		0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2		0	54	0	C			5214445	-1			no_errors	ENST00000372412	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	5214445	C	T	5214445	3	4	94	1	0	0	0	0	1	0	0	0	12856	739	26	3	1341	3	PTPRS	19	5214445	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09		5214445	53914538	221	27136											
PTPRS	5802	genome.wustl.edu	37	chr19	5244269	5244269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggccgatggagttgaCggccgacacccagatctcgt	7	7	12	15	4	1	2	0	1	1	1	2	5	1	3	5	3	0	1	5	3	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:5244269C>T	ENST00000587303.1	-	10	1312	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	PTPRS_ENST00000262963.6_Missense_Mutation_p.V401I|PTPRS_ENST00000348075.2_Missense_Mutation_p.V392I|PTPRS_ENST00000588012.1_Missense_Mutation_p.V392I|PTPRS_ENST00000592099.1_Missense_Mutation_p.V392I|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.V392I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V405I|PTPRS_ENST00000372412.4_Missense_Mutation_p.V406I			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	405	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	ATGGAGTTGACGGCCGACACC	0.667																																																	0													53	47	49					19																	5244269		2203	4300	6503	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1213G>A	19.37:g.5244269C>T	ENSP00000467537:p.Val405Ile		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.V406I	ENST00000587303.1	37	c.1216	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774337	0.31411	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	3.93	3.93	0.45458	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.095040	0.41938	U	0.000784	T	0.67277	0.2876	M	0.77616	2.38	0.22591	N	0.998958	P;P;P;D;P;P	0.58970	0.56;0.723;0.588;0.984;0.939;0.92	B;B;B;P;P;B	0.50708	0.216;0.216;0.172;0.648;0.603;0.265	T	0.64037	-0.6501	10	0.42905	T	0.14	.	16.1378	0.81497	0.0:1.0:0.0:0.0	.	405;392;396;392;405;418	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	I	418;406;405;405;405;401;392;405;396;392	ENSP00000361489:V406I;ENSP00000349932:V405I;ENSP00000262963:V401I;ENSP00000269907:V392I;ENSP00000327313:V392I	ENSP00000262963:V401I	V	-	1	0	PTPRS	5195269	0.989000	0.36119	0.858000	0.33744	0.269000	0.26545	2.834000	0.48167	2.052000	0.61016	0.462000	0.41574	GTC	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.667	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	74	0	C			5244269	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.969	T	T	5244269	C	T	5244269	3	4	94	1	0	0	0	0	1	0	0	0	12856	536	19	1	4745	1	PTPRS	19	5244269	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	29824	5244269	53884714	222	27137											
MUC16	94025	genome.wustl.edu	37	chr19	9047103	9047103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgacttactatgggAaaacttgggagttgtcctgg	8	13	14	6	0	1	1	0	1	1	0	2	3	2	3	1	4	2	1	1	4	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:9047103A>G	ENST00000397910.4	-	5	34731	c.34528T>C	c.(34528-34530)Tcc>Ccc	p.S11510P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11512	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTACTATGGGAAAACTTGGGA	0.498																																																	0													148	144	145					19																	9047103		2057	4202	6259	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34528T>C	19.37:g.9047103A>G	ENSP00000381008:p.Ser11510Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S11510P	ENST00000397910.4	37	c.34528	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	4.722	0.134314	0.09032	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	2.48	-3.51	0.04696	.	.	.	.	.	T	0.04003	0.0112	L	0.41824	1.3	.	.	.	B	0.27166	0.17	B	0.31614	0.133	T	0.28004	-1.0057	8	0.87932	D	0	.	8.9024	0.35503	0.3084:0.0:0.6916:0.0	.	11510	B5ME49	.	P	11510	ENSP00000381008:S11510P	ENSP00000381008:S11510P	S	-	1	0	MUC16	8908103	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.949000	0.03893	-1.024000	0.03338	-0.471000	0.05019	TCC	MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	71	0	A	NM_024690		9047103	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	17.65	42	9	SNP	0.000	G	G	9047103	A	G	9047103	3	3	94	1	0	0	0	0	1	0	0	0	10011	246	9	4	9315	4	MUC16	19	9047103	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	3802834	9047103	50081880	223	27138											
MUC16	94025	genome.wustl.edu	37	chr19	9049508	9049508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtggctattgaaggtgtgGcatctgattcatgatgagaa	10	13	14	4	0	2	4	1	4	1	1	2	5	2	4	0	4	0	2	0	4	3	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:9049508G>A	ENST00000397910.4	-	5	32326	c.32123C>T	c.(32122-32124)gCc>gTc	p.A10708V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10710	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGGTGTGGCATCTGATTC	0.478																																																	0													232	211	218					19																	9049508		1978	4163	6141	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32123C>T	19.37:g.9049508G>A	ENSP00000381008:p.Ala10708Val		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.A10708V	ENST00000397910.4	37	c.32123	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.646	0.681954	0.14907	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.34	-4.68	0.03309	.	.	.	.	.	T	0.01454	0.0047	N	0.14661	0.345	.	.	.	B	0.31174	0.311	B	0.26614	0.071	T	0.45234	-0.9275	8	0.87932	D	0	.	0.8561	0.01182	0.1455:0.2167:0.3098:0.3279	.	10708	B5ME49	.	V	10708	ENSP00000381008:A10708V	ENSP00000381008:A10708V	A	-	2	0	MUC16	8910508	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-5.763000	0.00100	-0.797000	0.04450	0.479000	0.44913	GCC	MUC16	-	NULL	ENSG00000181143		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	73	0	G	NM_024690		9049508	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.000	A	A	9049508	G	A	9049508	3	1	94	1	0	0	0	0	1	0	0	0	10011	1203	42	3	11720	3	MUC16	19	9049508	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	2405	9049508	50079475	224	27139											
DNMT1	1786	genome.wustl.edu	37	chr19	10260136	10260136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggcactcacctccatgGcccagttttcggagggggct	7	8	12	14	1	1	0	1	0	0	0	3	1	2	1	4	5	0	3	4	5	0	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:10260136G>A	ENST00000340748.4	-	25	2766	c.2531C>T	c.(2530-2532)gCc>gTc	p.A844V	DNMT1_ENST00000540357.1_Missense_Mutation_p.A844V|DNMT1_ENST00000359526.4_Missense_Mutation_p.A860V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	844	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CACCTCCATGGCCCAGTTTTC	0.488																																																	0													174	182	179					19																	10260136		2203	4300	6503	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2531C>T	19.37:g.10260136G>A	ENSP00000345739:p.Ala844Val		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.A860V	ENST00000340748.4	37	c.2579	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214718	0.39102	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.85773	-2.03;-2.03;-2.03	5.82	5.82	0.92795	Bromo adjacent homology (BAH) domain (3);	0.183650	0.48767	D	0.000178	T	0.75961	0.3921	L	0.34521	1.04	0.42644	D	0.993429	P;P;B	0.45902	0.575;0.868;0.434	B;B;B	0.39771	0.205;0.205;0.309	T	0.73329	-0.4017	10	0.15499	T	0.54	.	12.2315	0.54490	0.0785:0.0:0.9215:0.0	.	844;860;844	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	V	860;844;844;712	ENSP00000352516:A860V;ENSP00000440457:A844V;ENSP00000345739:A844V	ENSP00000345739:A844V	A	-	2	0	DNMT1	10121136	1.000000	0.71417	0.996000	0.52242	0.782000	0.44232	5.048000	0.64238	2.752000	0.94435	0.655000	0.94253	GCC	DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	ENSG00000130816		0.488	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	-	0	66	0	G	NM_001379		10260136	-1	tier1	-	no_errors	ENST00000359526	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A	A	10260136	G	A	10260136	3	1	94	1	0	0	0	0	1	0	0	0	4689	1203	42	3	2383	3	DNMT1	19	10260136	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1210628	10260136	48868847	225	27140											
ASNA1	439	genome.wustl.edu	37	chr19	12858341	12858341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaccagctcgtcttccccGaccccgagaagccctgcaag	9	6	8	18	3	2	1	1	0	1	1	4	3	3	1	6	0	4	2	6	0	3	1	rs149156095	byFrequency	TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:12858341G>A	ENST00000591090.1	+	7	952	c.850G>A	c.(850-852)Gac>Aac	p.D284N	ASNA1_ENST00000357332.3_Missense_Mutation_p.D284N					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CGTCTTCCCCGACCCCGAGAA	0.562																																																	0								G	ASN/ASP	0,4406		0,0,2203	74	64	67		850	5.1	1	19	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	missense	ASNA1	NM_004317.2	23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	284/349	12858341	2,13004	2203	4300	6503	SO:0001583	missense	0			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"golgi to ER traffic 3 homolog (S. cerevisiae)", "transmembrane domain recognition complex, 40kDa"	601913	"arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.850G>A	19.37:g.12858341G>A	ENSP00000466379:p.Asp284Asn			Missense_Mutation	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	p.D284N	ENST00000591090.1	37	c.850	CCDS32920.1	19	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008035	0.54361	0.0	2.33E-4	ENSG00000198356	ENST00000357332	T	0.45668	0.89	5.1	5.1	0.69264	.	0.099904	0.64402	D	0.000004	T	0.32941	0.0846	L	0.31578	0.945	0.80722	D	1	B;B	0.25521	0.128;0.004	B;B	0.17098	0.017;0.003	T	0.06899	-1.0801	10	0.30078	T	0.28	-41.4305	17.2701	0.87098	0.0:0.0:1.0:0.0	.	266;284	E7EVN0;O43681	.;ASNA_HUMAN	N	284	ENSP00000349887:D284N	ENSP00000349887:D284N	D	+	1	0	ASNA1	12719341	1.000000	0.71417	0.959000	0.39883	0.814000	0.46013	9.111000	0.94308	2.363000	0.80096	0.655000	0.94253	GAC	ASNA1	-	pfam_Anion-transp_ATPase-like_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3	ENSG00000198356		0.562	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1	-	0	17	0	G	NM_004317		12858341	1	tier1	rs149156095	no_errors	ENST00000357332	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.999	A	A	12858341	G	A	12858341	3	1	94	1	0	0	0	0	1	0	0	0	1048	1058	37	1	872	1	ASNA1	19	12858341	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	2598205	12858341	46270642	226	27141											
MAST1	22983	genome.wustl.edu	37	chr19	12975991	12975991	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagagttcctggacaaacAggtgtgtgtgcgggcatggg	8	8	17	8	2	0	1	0	0	0	1	1	3	1	2	2	4	2	2	2	4	1	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:12975991A>G	ENST00000251472.4	+	14	1676	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTGGACAAACAGGTGTGTGTG	0.622																																																	0													63	61	61					19																	12975991		2203	4300	6503	SO:0001630	splice_region_variant	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1638+1A>G	19.37:g.12975991A>G				Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.Q546R	ENST00000251472.4	37	c.1637	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	A	23.0	4.365415	0.82463	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.23552	1.9	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	N	0.13198	0.31	0.80722	D	1	P	0.49862	0.929	P	0.56916	0.809	T	0.12451	-1.0547	10	0.87932	D	0	-15.6228	12.5681	0.56320	1.0:0.0:0.0:0.0	.	546	Q9Y2H9	MAST1_HUMAN	R	546	ENSP00000251472:Q546R	ENSP00000251472:Q546R	Q	+	2	0	MAST1	12836991	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	1.940000	0.56252	0.459000	0.35465	CAG	MAST1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000105613		0.622	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	-	0	44	0	A	NM_014975	Missense_Mutation	12975991	1	tier1	-	no_errors	ENST00000251472	ensembl	human	known	74_37	missense	38.89	11	7	SNP	1.000	G	G	12975991	A	G	12975991	5	3	94	1	0	0	0	0	0	0	1	0	9362	202	7	4	1691	4	MAST1	19	12975991	Splice_Site	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	117650	12975991	46152992	227	27142											
CCDC105	126402	genome.wustl.edu	37	chr19	15132449	15132449	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagattaaatatgacgttaGgactgatgaggggaactatc	16	10	11	4	1	0	4	0	3	0	1	1	6	0	6	0	3	1	1	0	3	7	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:15132449G>T	ENST00000292574.3	+	5	1145	c.1063G>T	c.(1063-1065)Gga>Tga	p.G355*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	355						extracellular vesicular exosome (GO:0070062)		p.G355K(1)|p.G355R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TATGACGTTAGGACTGATGAG	0.587																																																	2	Substitution - Missense(2)	lung(2)											81	80	80					19																	15132449		2203	4300	6503	SO:0001587	stop_gained	0			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1063G>T	19.37:g.15132449G>T	ENSP00000292574:p.Gly355*		Q8N7T5|Q8NDL5	Nonsense_Mutation	SNP	pfam_Tektin	p.G355*	ENST00000292574.3	37	c.1063	CCDS12322.1	19	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206895	0.58343	.	.	ENSG00000160994	ENST00000292574	.	.	.	3.91	3.91	0.45181	.	0.110416	0.36703	N	0.002455	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-17.8949	11.3526	0.49596	0.0:0.0:1.0:0.0	.	.	.	.	X	355	.	ENSP00000292574:G355X	G	+	1	0	CCDC105	14993449	0.996000	0.38824	0.158000	0.22627	0.082000	0.17680	3.984000	0.56923	2.033000	0.60031	0.549000	0.68633	GGA	CCDC105	-	pfam_Tektin	ENSG00000160994		0.587	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	HGNC	protein_coding	OTTHUMT00000466293.1		0	79	0	G	NM_173482		15132449	1			no_errors	ENST00000292574	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.243	T	T	15132449	G	T	15132449	4	4	94	1	0	0	0	0	0	1	0	0	2747	1001	35	3	1081	3	CCDC105	19	15132449	Nonsense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	2156458	15132449	43996534	228	27143											
KIAA0355	9710	genome.wustl.edu	37	chr19	34819033	34819033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttaatgagtcggccGccgacaatctgaaacttaag	11	11	8	11	3	2	2	0	2	2	0	4	3	2	2	3	1	1	0	3	1	4	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:34819033G>A	ENST00000299505.6	+	6	1954	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	361										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGAGTCGGCCGCCGACAATCT	0.517																																																	0													53	56	55					19																	34819033		2203	4300	6503	SO:0001583	missense	0				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1081G>A	19.37:g.34819033G>A	ENSP00000299505:p.Ala361Thr		Q2M3W4	Missense_Mutation	SNP	NULL	p.A361T	ENST00000299505.6	37	c.1081	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037865	0.75617	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	4.52	0.55395	.	0.059976	0.64402	D	0.000003	T	0.37046	0.0989	N	0.08118	0	0.47584	D	0.999462	B	0.14438	0.01	B	0.10450	0.005	T	0.25676	-1.0125	9	0.87932	D	0	-11.1873	10.8121	0.46553	0.1447:0.0:0.8553:0.0	.	361	O15063	K0355_HUMAN	T	361;64	.	ENSP00000299505:A361T	A	+	1	0	KIAA0355	39510873	1.000000	0.71417	0.332000	0.25469	0.953000	0.61014	5.224000	0.65288	1.362000	0.46000	0.544000	0.68410	GCC	KIAA0355	-	NULL	ENSG00000166398		0.517	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4		0	33	0	G	NM_014686		34819033	1			no_errors	ENST00000299505	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.781	A	A	34819033	G	A	34819033	3	1	94	1	0	0	0	0	1	0	0	0	8197	1087	38	1	1099	1	KIAA0355	19	34819033	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	19686584	34819033	24309950	229	27144											
LTBP4	8425	genome.wustl.edu	37	chr19	41117292	41117292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccgagggcccggggcccCctgccaaggtgagggtgctg	4	5	17	15	2	0	1	0	1	0	0	1	2	1	1	5	5	2	1	5	5	1	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:41117292C>G	ENST00000308370.7	+	16	2246	c.2246C>G	c.(2245-2247)cCc>cGc	p.P749R	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_5'Flank|LTBP4_ENST00000396819.3_Missense_Mutation_p.P682R|LTBP4_ENST00000545697.1_Missense_Mutation_p.P202R|LTBP4_ENST00000204005.9_Missense_Mutation_p.P712R	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	749	Cys-rich.|EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCGGGGCCCCCTGCCAAGGT	0.667																																																	0													24	27	26					19																	41117292		1900	4096	5996	SO:0001583	missense	0			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"Latent transforming growth factor, beta binding proteins"	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2246C>G	19.37:g.41117292C>G	ENSP00000311905:p.Pro749Arg		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.P749R	ENST00000308370.7	37	c.2246		19	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640192	0.47153	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.27	5.27	0.74061	EGF-like region, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.39834	N	0.001258	D	0.90126	0.6915	N	0.05078	-0.115	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.998;0.998	D	0.88360	0.2987	10	0.18276	T	0.48	.	15.7896	0.78343	0.0:1.0:0.0:0.0	.	682;749;712	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	R	712;202;749;682	ENSP00000204005:P712R;ENSP00000441054:P202R;ENSP00000311905:P749R;ENSP00000380031:P682R	ENSP00000204005:P712R	P	+	2	0	LTBP4	45809132	0.746000	0.28272	1.000000	0.80357	0.998000	0.95712	0.934000	0.28910	2.459000	0.83118	0.650000	0.86243	CCC	LTBP4	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000090006		0.667	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		-	0	61	0	C	NM_003573		41117292	1	tier1	-	no_errors	ENST00000308370	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	G	G	41117292	C	G	41117292	3	3	94	1	0	0	0	0	1	0	0	0	9111	623	22	5	2601	5	LTBP4	19	41117292	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	6298259	41117292	18011691	230	27145											
PSG3	5671	genome.wustl.edu	37	chr19	43236999	43236999	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttccgtatttcacattCatagggtcctgcagtgtact	7	15	10	9	1	2	0	2	0	0	0	4	0	4	0	2	2	2	4	2	2	3	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:43236999C>A	ENST00000327495.5	-	3	830	c.646G>T	c.(646-648)Gaa>Taa	p.E216*	PSG3_ENST00000490592.1_5'Flank|PSG3_ENST00000595140.1_Nonsense_Mutation_p.E216*	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	216	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATTTCACATTCATAGGGTCCT	0.507																																																	0													232	237	236					19																	43236999		2203	4298	6501	SO:0001587	stop_gained	0				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.646G>T	19.37:g.43236999C>A	ENSP00000332215:p.Glu216*		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E216*	ENST00000327495.5	37	c.646	CCDS12611.1	19	.	.	.	.	.	.	.	.	.	.	-	15.97	2.990659	0.54041	.	.	ENSG00000221826	ENST00000327495	.	.	.	1.59	0.389	0.16269	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	5.6521	0.17622	0.0:0.653:0.347:0.0	.	.	.	.	X	216	.	ENSP00000332215:E216X	E	-	1	0	PSG3	47928839	0.178000	0.23122	0.340000	0.25575	0.015000	0.08874	-0.075000	0.11431	-0.000000	0.14550	-0.751000	0.03497	GAA	PSG3	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000221826		0.507	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	HGNC	protein_coding	OTTHUMT00000321423.2	-	0	214	0	C	NM_021016		43236999	-1	tier1	-	no_errors	ENST00000327495	ensembl	human	known	74_37	nonsense	28.57	160	64	SNP	0.933	A	A	43236999	C	A	43236999	4	1	94	1	0	0	0	0	0	1	0	0	12698	835	29	3	656	3	PSG3	19	43236999	Nonsense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	2119707	43236999	15891984	231	27146											
PSG1	5669	genome.wustl.edu	37	chr19	43373045	43373045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatgggtcgctttaccctgGgactgaccgggaggctctga	7	9	14	11	2	1	2	0	2	1	0	2	4	1	4	2	4	1	2	2	4	2	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:43373045G>A	ENST00000436291.2	-	4	967	c.851C>T	c.(850-852)cCc>cTc	p.P284L	PSG1_ENST00000244296.2_Missense_Mutation_p.P284L|PSG1_ENST00000403380.3_Missense_Mutation_p.P191L|PSG1_ENST00000595124.1_Missense_Mutation_p.P191L|PSG1_ENST00000595356.1_Missense_Mutation_p.P284L|PSG1_ENST00000312439.6_Missense_Mutation_p.P284L	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	284	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTTTACCCTGGGACTGACCGG	0.473																																																	0													30	37	35					19																	43373045		1494	2687	4181	SO:0001583	missense	0				CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.851C>T	19.37:g.43373045G>A	ENSP00000413041:p.Pro284Leu		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P284L	ENST00000436291.2	37	c.851	CCDS54275.1	19	.	.	.	.	.	.	.	.	.	.	N	10.97	1.500335	0.26861	.	.	ENSG00000231924	ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	1.63	-3.26	0.05064	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29423	0.0733	M	0.80028	2.48	0.09310	N	1	P;B;D;B;P;D;P	0.63046	0.788;0.361;0.96;0.239;0.951;0.992;0.907	B;B;P;P;P;D;P	0.70227	0.352;0.426;0.862;0.459;0.637;0.968;0.767	T	0.13872	-1.0493	9	0.87932	D	0	.	3.382	0.07257	0.0:0.2347:0.3076:0.4577	.	284;191;284;191;284;156;284	P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;B4DTG5;P11464-2	.;.;PSG1_HUMAN;.;.;.;.	L	284;191;284;284	ENSP00000413041:P284L;ENSP00000385386:P191L;ENSP00000308970:P284L;ENSP00000244296:P284L	ENSP00000244296:P284L	P	-	2	0	PSG1	48064885	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.025000	0.01435	-0.682000	0.05197	0.195000	0.17529	CCC	PSG1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000231924		0.473	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSG1	HGNC	protein_coding	OTTHUMT00000321426.1	-	0	140	0	G			43373045	-1	tier1	-	no_errors	ENST00000312439	ensembl	human	known	74_37	missense	20.00	116	29	SNP	0.000	A	A	43373045	G	A	43373045	3	1	94	1	0	0	0	0	1	0	0	0	12695	1232	43	3	473	3	PSG1	19	43373045	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	136046	43373045	15755938	232	27147											
CD177	57126	genome.wustl.edu	37	chr19	43859867	43859867	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatggaaggctgtctggaggGgacaacagaagagatctgcc	12	7	15	7	0	2	2	0	0	2	2	2	6	2	5	1	5	2	1	1	5	4	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:43859867G>A	ENST00000607517.1	+	0	490				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGTCTGGAGGGGACAACAGAA	0.592																																																	0													57	55	56					19																	43859867		1867	4104	5971			0			AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"CD molecules"	30072	protein-coding gene	gene with protein product	"polycythemia rubra vera 1"	162860	"CD177 antigen"			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859867G>A			Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	pfam_LY6_UPAR	p.G145E	ENST00000607517.1	37	c.434		19	.	.	.	.	.	.	.	.	.	.	g	2.127	-0.400144	0.04865	.	.	ENSG00000204936	ENST00000378009	T	0.66638	-0.22	3.27	-0.342	0.12635	CD59 antigen (1);	.	.	.	.	T	0.45915	0.1366	N	0.08118	0	0.09310	N	1	P	0.49307	0.922	P	0.45753	0.492	T	0.39292	-0.9621	9	0.66056	D	0.02	.	5.6602	0.17664	0.2825:0.5647:0.1528:0.0	.	145	Q8N6Q3	CD177_HUMAN	E	145	ENSP00000367248:G145E	ENSP00000367248:G145E	G	+	2	0	CD177	48551707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.629000	0.05508	-0.017000	0.14103	-0.521000	0.04368	GGG	CD177	-	pfam_LY6_UPAR	ENSG00000204936		0.592	CD177-001	KNOWN	basic	polymorphic_pseudogene	CD177	HGNC	polymorphic_pseudogene	OTTHUMT00000470162.1	-	0	81	0	G	NM_020406		43859867	1	tier1	-	no_errors	ENST00000378009	ensembl	human	known	74_37	missense	25.93	60	21	SNP	0.000	A	A	43859867	G	A	43859867	1	1	94	0	1	0	0	0	0	0	0	0	2978	1232	43	3		3	CD177	19	43859867	RNA	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	486822	43859867	15269116	233	27148											
STRN4	29888	genome.wustl.edu	37	chr19	47228734	47228734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgctgccctcacttctTggccgtgaccgccttctgca	4	12	9	16	2	3	1	1	1	2	0	3	1	3	1	4	1	4	3	4	1	0	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:47228734T>C	ENST00000263280.6	-	10	1469	c.1420A>G	c.(1420-1422)Aag>Gag	p.K474E	STRN4_ENST00000539396.1_Missense_Mutation_p.K355E|STRN4_ENST00000391910.3_Missense_Mutation_p.K481E|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	474						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCACTTCTTGGCCGTGACC	0.642																																																	0													48	46	47					19																	47228734		2203	4300	6503	SO:0001583	missense	0			AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"WD repeat domain containing"	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1420A>G	19.37:g.47228734T>C	ENSP00000263280:p.Lys474Glu		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.K481E	ENST00000263280.6	37	c.1441	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509420	0.64522	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.66460	-0.21;-0.17;-0.05	4.77	3.74	0.42951	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.062472	0.64402	D	0.000013	T	0.67896	0.2942	M	0.67700	2.07	0.80722	D	1	B;P	0.43392	0.384;0.805	P;B	0.45753	0.492;0.211	T	0.68424	-0.5412	10	0.62326	D	0.03	.	10.6632	0.45714	0.0:0.0:0.1614:0.8386	.	481;474	F8VYA6;Q9NRL3	.;STRN4_HUMAN	E	481;474;355	ENSP00000375777:K481E;ENSP00000263280:K474E;ENSP00000440901:K355E	ENSP00000263280:K474E	K	-	1	0	STRN4	51920574	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.974000	0.70465	0.672000	0.31204	0.459000	0.35465	AAG	STRN4	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000090372		0.642	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	HGNC	protein_coding	OTTHUMT00000466607.2		0	75	0	T			47228734	-1			no_errors	ENST00000391910	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	C	C	47228734	T	C	47228734	3	2	94	1	0	0	0	0	1	0	0	0	15378	1821	63	4	873	4	STRN4	19	47228734	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	3368867	47228734	11900249	234	27149											
ZNF114	163071	genome.wustl.edu	37	chr19	48789377	48789377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtataatcctgtcttaaacGatagtcaaaaaacacatgaa	19	10	5	7	1	2	1	1	1	1	0	3	2	3	1	1	0	2	1	1	0	9	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:48789377G>T	ENST00000595607.1	+	6	990	c.496G>T	c.(496-498)Gat>Tat	p.D166Y	ZNF114_ENST00000600687.1_Missense_Mutation_p.D166Y|ZNF114_ENST00000597695.1_Missense_Mutation_p.D132Y|ZNF114_ENST00000315849.1_Missense_Mutation_p.D166Y			Q8NC26	ZN114_HUMAN	zinc finger protein 114	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TGTCTTAAACGATAGTCAAAA	0.423																																																	0													71	66	67					19																	48789377		2203	4300	6503	SO:0001583	missense	0			BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"Zinc fingers, C2H2-type", "-"	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.496G>T	19.37:g.48789377G>T	ENSP00000469998:p.Asp166Tyr		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D166Y	ENST00000595607.1	37	c.496	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274898	0.23307	.	.	ENSG00000178150	ENST00000315849	T	0.05925	3.37	2.01	0.971	0.19698	.	.	.	.	.	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	P	0.51449	0.945	B	0.39027	0.288	T	0.42849	-0.9427	9	0.62326	D	0.03	.	5.1232	0.14871	0.83:0.0:0.17:0.0	.	166	Q8NC26	ZN114_HUMAN	Y	166	ENSP00000318898:D166Y	ENSP00000318898:D166Y	D	+	1	0	ZNF114	53481189	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.673000	0.25203	0.260000	0.21731	-0.474000	0.04947	GAT	ZNF114	-	NULL	ENSG00000178150		0.423	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1		0	18	0	G	NM_153608		48789377	1			no_errors	ENST00000315849	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.001	T	T	48789377	G	T	48789377	3	4	94	1	0	0	0	0	1	0	0	0	17764	1058	37	2	506	2	ZNF114	19	48789377	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1560643	48789377	10339606	235	27150											
PRRG2	5639	genome.wustl.edu	37	chr19	50086513	50086513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctgctgctgctatatatgGcattaaccacctgcctggat	8	13	8	12	0	1	0	0	0	1	0	1	1	1	1	3	2	5	4	3	2	4	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:50086513G>A	ENST00000246794.5	+	2	206	c.37G>A	c.(37-39)Gca>Aca	p.A13T	PRRG2_ENST00000596700.1_Intron|NOSIP_ENST00000339093.3_5'Flank|NOSIP_ENST00000596358.1_5'Flank|NOSIP_ENST00000391853.3_5'Flank	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	13						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		GCTATATATGGCATTAACCAC	0.537																																																	0													112	99	103					19																	50086513		2203	4300	6503	SO:0001583	missense	0				CCDS12773.1	19q13.33	2008-02-05	2004-05-27						9470	protein-coding gene	gene with protein product		604429	"proline-rich Gla (G-carboxyglutamic acid) polypeptide 2"			9256434	Standard	NM_000951		Approved	PRGP2	uc002pon.3	O14669		ENST00000246794.5:c.37G>A	19.37:g.50086513G>A	ENSP00000246794:p.Ala13Thr		Q6IBF8	Missense_Mutation	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain	p.A13T	ENST00000246794.5	37	c.37	CCDS12773.1	19	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488255	0.26686	.	.	ENSG00000126460	ENST00000246794	D	0.97303	-4.33	4.52	4.52	0.55395	.	0.643908	0.14784	N	0.298613	D	0.91112	0.7202	N	0.08118	0	0.80722	D	1	B	0.26975	0.165	B	0.20955	0.032	D	0.88163	0.2859	10	0.29301	T	0.29	-9.0645	12.6706	0.56864	0.0:0.0:1.0:0.0	.	13	O14669	TMG2_HUMAN	T	13	ENSP00000246794:A13T	ENSP00000246794:A13T	A	+	1	0	PRRG2	54778325	0.945000	0.32115	0.992000	0.48379	0.045000	0.14185	2.599000	0.46231	2.371000	0.80710	0.558000	0.71614	GCA	PRRG2	-	NULL	ENSG00000126460		0.537	PRRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG2	HGNC	protein_coding	OTTHUMT00000465257.1	-	0	64	0	G	NM_000951		50086513	1	tier1	-	no_errors	ENST00000246794	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.975	A	A	50086513	G	A	50086513	3	1	94	1	0	0	0	0	1	0	0	0	12648	1203	42	3	39	3	PRRG2	19	50086513	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1297136	50086513	9042470	236	27151											
KLK15	55554	genome.wustl.edu	37	chr19	51330175	51330175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggtcccaggctcgttgtggGacaccaggccccagccagac	7	5	13	16	2	0	1	0	0	0	1	2	2	1	2	5	4	1	2	5	4	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:51330175G>A	ENST00000598239.1	-	3	470	c.440C>T	c.(439-441)tCc>tTc	p.S147F	KLK15_ENST00000596931.1_Missense_Mutation_p.S146F|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.S147F|KLK15_ENST00000326856.4_Missense_Mutation_p.S146F	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	147	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2). {ECO:0000305}.		extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CTCGTTGTGGGACACCAGGCC	0.692																																					Pancreas(140;10 2513 7143 9246)												0													27	29	28					19																	51330175		2203	4300	6503	SO:0001583	missense	0			AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"Kallikreins"	20453	protein-coding gene	gene with protein product		610601	"kallikrein 15"			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.440C>T	19.37:g.51330175G>A	ENSP00000469315:p.Ser147Phe		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S147F	ENST00000598239.1	37	c.440	CCDS12805.1	19	.	.	.	.	.	.	.	.	.	.	g	15.43	2.831012	0.50845	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88741	-2.42	4.5	3.46	0.39613	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.511690	0.16561	N	0.209046	D	0.87006	0.6070	L	0.43757	1.38	0.21290	N	0.99974	P;P;P	0.50443	0.935;0.539;0.458	P;P;P	0.51615	0.629;0.675;0.575	T	0.76586	-0.2905	10	0.25751	T	0.34	.	8.5953	0.33712	0.1061:0.0:0.8939:0.0	.	147;146;147	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	F	147	ENSP00000301421:S147F	ENSP00000301421:S147F	S	-	2	0	KLK15	56021987	0.023000	0.18921	0.501000	0.27601	0.433000	0.31745	2.251000	0.43187	1.263000	0.44181	0.555000	0.69702	TCC	KLK15	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000174562		0.692	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK15	HGNC	protein_coding	OTTHUMT00000465160.1	-	0	37	0	G	NM_017509		51330175	-1	tier1	-	no_errors	ENST00000598239	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.389	A	A	51330175	G	A	51330175	3	1	94	1	0	0	0	0	1	0	0	0	8430	1174	41	3	342	3	KLK15	19	51330175	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	1243662	51330175	7798808	237	27152											
SIGLEC12	89858	genome.wustl.edu	37	chr19	52003613	52003613	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcttcatttgcccatagCaggggcagcagcatctctga	8	11	9	13	0	3	1	1	1	2	0	5	1	3	1	1	2	4	4	1	2	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:52003613C>T	ENST00000291707.3	-	2	483				SIGLEC12_ENST00000598614.1_Silent_p.L5L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TTGCCCATAGCAGGGGCAGCA	0.637																																																	0													14	13	14					19																	52003613		1327	2309	3636	SO:0001627	intron_variant	0			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15482	protein-coding gene	gene with protein product		606094	"SIGLEC-like 1", "sialic acid binding Ig-like lectin 12"	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.428-59G>A	19.37:g.52003613C>T			Q8IYH7	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L5	ENST00000291707.3	37	c.15	CCDS12833.1	19																																																																																			SIGLEC12	-	NULL	ENSG00000254521		0.637	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	-	0	15	0	C	NM_053003		52003613	-1	tier1	-	no_errors	ENST00000598614	ensembl	human	putative	74_37	silent	20.00	15	4	SNP	0.374	T	T	52003613	C	T	52003613	1	4	94	0	1	0	0	0	0	0	0	0	14353	697	25	3		3	SIGLEC12	19	52003613	Intron	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	673438	52003613	7125370	238	27153											
SIGLEC6	946	genome.wustl.edu	37	chr19	52033988	52033988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccggctccagggaacGtcacctgacaggtgaggttg	9	7	13	12	2	2	2	2	2	0	0	3	3	3	3	3	4	1	2	3	4	1	1	rs368576884		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:52033988G>A	ENST00000425629.3	-	3	807	c.653C>T	c.(652-654)aCg>aTg	p.T218M	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.T218M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.T218M|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.T207M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.T218M|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.T182M|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	218	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TCCAGGGAACGTCACCTGACA	0.667																																																	0								G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4404		0,0,2202	62	69	67		545,653,620,653,653,653	-6.9	0	19		67	1,8599		0,1,4299	no	missense,missense,missense,missense,missense,missense	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	81,81,81,81,81,81	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	182/402,218/390,207/343,218/454,218/438,218/354	52033988	1,13003	2202	4300	6502	SO:0001583	missense	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"Sialic acid binding Ig-like lectins", "CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.653C>T	19.37:g.52033988G>A	ENSP00000401502:p.Thr218Met		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.T218M	ENST00000425629.3	37	c.653	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	G	6.448	0.450790	0.12223	0.0	1.16E-4	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T;T	0.03772	3.86;3.81;3.81;3.81;3.81	3.6	-6.92	0.01644	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.984710	0.02965	N	0.143647	T	0.04452	0.0122	L	0.49455	1.56	0.09310	N	1	P;P;B;B;P;P	0.46220	0.874;0.651;0.419;0.384;0.763;0.472	B;B;B;B;B;B	0.38428	0.273;0.1;0.245;0.092;0.202;0.068	T	0.19549	-1.0302	10	0.54805	T	0.06	.	2.6878	0.05112	0.1864:0.0994:0.4508:0.2634	.	218;182;207;218;218;218	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	M	207;218;218;218;182;218	ENSP00000375674:T218M;ENSP00000401502:T218M;ENSP00000353071:T218M;ENSP00000410679:T182M;ENSP00000345907:T218M	ENSP00000345907:T218M	T	-	2	0	SIGLEC6	56725800	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.021000	0.00311	-2.258000	0.00694	-2.619000	0.00157	ACG	SIGLEC6	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105492		0.667	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	-	0	71	0	G	NM_001245		52033988	-1	tier1	-	no_errors	ENST00000425629	ensembl	human	known	74_37	missense	40.98	36	25	SNP	0.000	A	A	52033988	G	A	52033988	3	1	94	1	0	0	0	0	1	0	0	0	14357	1145	40	1	765	1	SIGLEC6	19	52033988	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	30375	52033988	7094995	239	27154											
ZNF613	79898	genome.wustl.edu	37	chr19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtgacaaagcattccGctggaaatcacagctcaatg	14	9	9	9	1	2	2	2	2	0	0	3	3	3	3	1	1	2	3	1	1	4	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458																																																	0													97	97	97					19																	52448197		2203	4300	6503	SO:0001583	missense	0			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"Zinc fingers, C2H2-type", "-"	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1061G>A	19.37:g.52448197G>A	ENSP00000293471:p.Arg354His		Q96SS9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R354H	ENST00000293471.6	37	c.1061	CCDS33089.1	19	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905323	0.52333	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.07567	3.18;3.18	3.26	2.21	0.28008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.950270	0.02940	N	0.140304	T	0.10981	0.0268	L	0.53249	1.67	0.22926	N	0.998558	B	0.25351	0.124	B	0.23419	0.046	T	0.32428	-0.9907	10	0.54805	T	0.06	.	4.6272	0.12484	0.1284:0.2282:0.6434:0.0	.	354	Q6PF04	ZN613_HUMAN	H	354;318;28	ENSP00000293471:R354H;ENSP00000375671:R318H	ENSP00000293471:R354H	R	+	2	0	ZNF613	57140009	0.000000	0.05858	0.793000	0.32043	0.922000	0.55478	-2.036000	0.01421	0.708000	0.31955	0.655000	0.94253	CGC	ZNF613	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176024		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2		0	54	0	G	NM_024840		52448197	1			no_errors	ENST00000293471	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.895	A	A	52448197	G	A	52448197	3	1	94	1	0	0	0	0	1	0	0	0	18086	1087	38	1	1075	1	ZNF613	19	52448197	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	414209	52448197	6680786	240	27155											
VSTM1	284415	genome.wustl.edu	37	chr19	54544290	54544290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgcctcagacagggcGctggtgcttagctcagcata	9	8	13	11	1	2	1	2	0	0	1	2	2	2	1	1	2	5	5	1	2	3	2	rs140870757		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:54544290G>A	ENST00000338372.2	-	9	811	c.636C>T	c.(634-636)agC>agT	p.S212S	VSTM1_ENST00000376626.1_Silent_p.S181S|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Silent_p.S124S	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	212					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.S212S(1)		breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CAGACAGGGCGCTGGTGCTTA	0.517													G|||	1	0.000199681	0	0	5008	,	,		12187	0		0.001	False		,,,				2504	0																1	Substitution - coding silent(1)	large_intestine(1)						G		2,4404	4.2+/-10.8	0,2,2201	52	48	50		636	-5.3	0	19	dbSNP_134	50	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous	VSTM1	NM_198481.3		0,12,6491	AA,AG,GG		0.1163,0.0454,0.0923		212/237	54544290	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	0			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.636C>T	19.37:g.54544290G>A			B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Silent	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.S212	ENST00000338372.2	37	c.636	CCDS12872.1	19																																																																																			VSTM1	-	NULL	ENSG00000189068		0.517	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM1	HGNC	protein_coding	OTTHUMT00000139358.3		0	52	0	G	NM_198481		54544290	-1			no_errors	ENST00000338372	ensembl	human	known	74_37	silent	10.42	42	5	SNP	0.000	A	A	54544290	G	A	54544290	2	1	94	1	0	0	0	0	0	0	0	1	17277	1078	38	1		1	VSTM1	19	54544290	Silent	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	2096093	54544290	4584693	241	27156											
SAPS1	22870	genome.wustl.edu	37	chr19	55743292	55743292	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttcctccccggagacTcgggggctggtcggggcatc	4	8	15	14	3	1	1	0	0	1	1	6	2	3	1	3	6	1	3	3	6	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:55743292T>G	ENST00000412770.2	-	19	2750	c.2184A>C	c.(2182-2184)cgA>cgC	p.R728R	PPP6R1_ENST00000587283.1_Silent_p.R728R|TMEM86B_ENST00000327042.4_5'Flank|AC010327.1_ENST00000581390.1_RNA	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	728	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CCCCGGAGACTCGGGGGCTGG	0.687																																																	0													13	15	14					19																	55743292		1892	4106	5998	SO:0001819	synonymous_variant	0			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"	29195	protein-coding gene	gene with protein product		610875	"KIAA1115", "SAPS domain family, member 1"	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2184A>C	19.37:g.55743292T>G			Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.R728	ENST00000412770.2	37	c.2184	CCDS46186.1	19																																																																																			PPP6R1	-	NULL	ENSG00000105063		0.687	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1	-	0	70	0	T	NM_014931		55743292	-1	tier1	-	no_errors	ENST00000412770	ensembl	human	known	74_37	silent	30.85	65	29	SNP	0.000	G	G	55743292	T	G	55743292	2	3	94	1	0	0	0	0	0	0	0	1	13881	1538	54	4		4	SAPS1	19	55743292	Silent	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	1199002	55743292	3385691	242	27157											
ZNF471	57573	genome.wustl.edu	37	chr19	57036330	57036330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggaatgcagaaaagcCttcagacagcctgcacacct	14	7	9	11	0	1	2	1	0	0	2	1	3	1	3	3	1	4	3	3	1	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:57036330C>T	ENST00000308031.5	+	5	1027	c.894C>T	c.(892-894)gcC>gcT	p.A298A	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_Missense_Mutation_p.P158L	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GCAGAAAAGCCTTCAGACAGC	0.403																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													110	119	116					19																	57036330		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"Zinc fingers, C2H2-type", "-"	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.894C>T	19.37:g.57036330C>T			B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.P158L	ENST00000308031.5	37	c.473	CCDS12945.1	19																																																																																			ZNF471	-	NULL	ENSG00000196263		0.403	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	-	0	47	0	C	NM_020813		57036330	1	tier1	-	no_errors	ENST00000591537	ensembl	human	putative	74_37	missense	28.33	43	17	SNP	0.814	T	T	57036330	C	T	57036330	2	4	94	1	0	0	0	0	0	0	0	1	17978	668	24	3		3	ZNF471	19	57036330	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	1293038	57036330	2092653	243	27158											
ZNF470	388566	genome.wustl.edu	37	chr19	57089220	57089220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcttcatcagagagttCatactggagagaaaccctat	13	12	7	9	0	4	2	3	0	1	2	4	5	4	3	1	1	3	1	1	1	4	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr19:57089220C>A	ENST00000330619.8	+	6	2109	c.1423C>A	c.(1423-1425)Cat>Aat	p.H475N	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.H475N	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCAGAGAGTTCATACTGGAGA	0.433																																																	0													72	78	76					19																	57089220		2203	4300	6503	SO:0001583	missense	0			AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"Zinc fingers, C2H2-type", "-"	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1423C>A	19.37:g.57089220C>A	ENSP00000333223:p.His475Asn		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H475N	ENST00000330619.8	37	c.1423	CCDS33122.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349180	0.82132	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.67345	-0.26;-0.26	4.37	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85017	0.5601	M	0.91090	3.175	0.38905	D	0.957405	D	0.89917	1.0	D	0.85130	0.997	D	0.89629	0.3854	9	0.72032	D	0.01	.	15.8406	0.78842	0.0:1.0:0.0:0.0	.	475	Q6ECI4	ZN470_HUMAN	N	475	ENSP00000375590:H475N;ENSP00000333223:H475N	ENSP00000333223:H475N	H	+	1	0	ZNF470	61781032	0.995000	0.38212	0.974000	0.42286	0.993000	0.82548	3.660000	0.54496	2.272000	0.75746	0.650000	0.86243	CAT	ZNF470	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197016		0.433	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF470	HGNC	protein_coding	OTTHUMT00000459707.2	-	0	45	0	C	NM_001001668		57089220	1	tier1	-	no_errors	ENST00000330619	ensembl	human	known	74_37	missense	22.81	44	13	SNP	1.000	A	A	57089220	C	A	57089220	3	1	94	1	0	0	0	0	1	0	0	0	17977	826	29	3	1437	3	ZNF470	19	57089220	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	52890	57089220	2039763	244	27159											
PTPRA	5786	genome.wustl.edu	37	chr20	3003439	3003439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctttgtgagccggatccGggcacagcgctgccagatgg	6	8	16	11	3	0	2	0	1	0	1	1	3	1	3	3	4	3	3	3	4	0	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr20:3003439G>A	ENST00000216877.6	+	15	1806	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	PTPRA_ENST00000318266.5_Missense_Mutation_p.R469Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.R469Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.R478Q|PTPRA_ENST00000425918.2_Missense_Mutation_p.R489Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.R334Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.R478Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	478	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCCGGATCCGGGCACAGCGC	0.547																																																	0													157	108	125					20																	3003439		2203	4300	6503	SO:0001583	missense	0				CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.1406G>A	20.37:g.3003439G>A	ENSP00000216877:p.Arg469Gln		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.R489Q	ENST00000216877.6	37	c.1466	CCDS13039.1	20	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938836	0.92526	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81;-2.81;-2.81;-2.81	5.72	4.78	0.61160	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	U	0.000000	D	0.97093	0.9050	H	0.98068	4.14	0.80722	D	1	D;D;D	0.89917	1.0;0.962;0.992	D;P;D	0.81914	0.995;0.479;0.918	D	0.98283	1.0509	10	0.87932	D	0	.	14.4635	0.67467	0.0703:0.0:0.9297:0.0	.	489;478;469	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	Q	478;469;478;334;88;489;469;469	ENSP00000369756:R478Q;ENSP00000216877:R469Q;ENSP00000382787:R478Q;ENSP00000351559:R334Q;ENSP00000393553:R489Q;ENSP00000314568:R469Q;ENSP00000348468:R469Q	ENSP00000216877:R469Q	R	+	2	0	PTPRA	2951439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.824000	0.99380	1.430000	0.47334	0.561000	0.74099	CGG	PTPRA	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132670		0.547	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRA	HGNC	protein_coding	OTTHUMT00000077682.3		0	30	0	G			3003439	1			no_errors	ENST00000425918	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A	A	3003439	G	A	3003439	3	1	94	1	0	0	0	0	1	0	0	0	12840	1116	39	1	1483	1	PTPRA	20	3003439	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09		3003439	60022081	245	27160											
PRIC285	85441	genome.wustl.edu	37	chr20	62203546	62203546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaaggccaccatctgtgCgtgctccgaggatgcgcagt	7	8	14	12	4	1	0	0	0	1	0	3	3	2	1	3	2	3	2	3	2	1	0	rs374328737		TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr20:62203546C>T	ENST00000467148.1	-	1	262	c.193G>A	c.(193-195)Gca>Aca	p.A65T	HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	65					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A65T(1)									ACCATCTGTGCGTGCTCCGAG	0.657																																																	1	Substitution - Missense(1)	endometrium(1)						C	THR/ALA	1,4367	2.1+/-5.4	0,1,2183	37	31	33		193	1	0	20		33	2,8586	2.2+/-6.3	0,2,4292	no	missense	PRIC285	NM_001037335.2	58	0,3,6475	TT,TC,CC		0.0233,0.0229,0.0232	benign	65/2650	62203546	3,12953	2184	4294	6478	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.193G>A	20.37:g.62203546C>T	ENSP00000417401:p.Ala65Thr		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.A65T	ENST00000467148.1	37	c.193	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	3.231	-0.157528	0.06544	2.29E-4	2.33E-4	ENSG00000130589	ENST00000467148	T	0.02472	4.28	4.12	1.03	0.20045	.	0.701012	0.13229	N	0.403818	T	0.01592	0.0051	L	0.33485	1.01	0.09310	N	1	P;B	0.43314	0.803;0.136	B;B	0.29598	0.104;0.016	T	0.44236	-0.9341	10	0.11485	T	0.65	-14.6011	5.3932	0.16255	0.1433:0.618:0.0:0.2387	.	65;65	Q4VXQ0;Q9BYK8	.;PR285_HUMAN	T	65	ENSP00000417401:A65T	ENSP00000417401:A65T	A	-	1	0	RP4-697K14.7	61673990	0.000000	0.05858	0.042000	0.18584	0.004000	0.04260	-0.613000	0.05610	0.733000	0.32492	-0.150000	0.13652	GCA	HELZ2	-	NULL	ENSG00000130589		0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	135	0	C	NM_001037335		62203546	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	33.33	68	34	SNP	0.000	T	T	62203546	C	T	62203546	3	4	94	1	0	0	0	0	1	0	0	0	12527	768	27	1	7855	1	PRIC285	20	62203546	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	59200107	62203546	821974	246	27161											
CHODL	140578	genome.wustl.edu	37	chr21	19628832	19628832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttttttcaggccaaaAggtgtgttttgctgacttca	7	20	8	6	0	2	1	2	1	0	0	2	1	2	1	1	2	1	2	1	2	2	8			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr21:19628832A>G	ENST00000299295.2	+	2	477	c.86A>G	c.(85-87)aAg>aGg	p.K29R	CHODL_ENST00000400127.1_5'UTR|CHODL_ENST00000543733.1_Missense_Mutation_p.K10R|CHODL_ENST00000400135.1_5'UTR|CHODL_ENST00000400128.1_5'UTR|CHODL_ENST00000338326.3_5'UTR|CHODL_ENST00000400131.1_5'UTR	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	29					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		TCAGGCCAAAAGGTGTGTTTT	0.418																																																	0													24	27	26					21																	19628832		2203	4299	6502	SO:0001583	missense	0			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"chromosome 21 open reading frame 68"	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.86A>G	21.37:g.19628832A>G	ENSP00000299295:p.Lys29Arg		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K29R	ENST00000299295.2	37	c.86	CCDS13570.1	21	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062271	0.36373	.	.	ENSG00000154645	ENST00000299295;ENST00000543733	T;T	0.17370	2.3;2.28	5.66	5.66	0.87406	.	0.042611	0.85682	D	0.000000	T	0.16300	0.0392	L	0.45581	1.43	0.80722	D	1	P	0.35433	0.501	B	0.30646	0.118	T	0.03493	-1.1031	9	.	.	.	-16.116	15.3478	0.74355	1.0:0.0:0.0:0.0	.	29	Q9H9P2	CHODL_HUMAN	R	29;10	ENSP00000299295:K29R;ENSP00000443566:K10R	.	K	+	2	0	CHODL	18550703	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.342000	0.52159	2.278000	0.76064	0.477000	0.44152	AAG	CHODL	-	NULL	ENSG00000154645		0.418	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	HGNC	protein_coding	OTTHUMT00000158232.1	-	0	17	0	A	NM_024944		19628832	1	tier1	-	no_errors	ENST00000299295	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	G	G	19628832	A	G	19628832	3	3	94	1	0	0	0	0	1	0	0	0	3371	72	3	4	92	4	CHODL	21	19628832	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09		19628832	28501063	247	27162											
BACE2	25825	genome.wustl.edu	37	chr21	42647541	42647541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctctggtcagacatcGctggaaatgaatagccaggc	10	9	11	11	1	2	2	1	1	1	1	5	3	3	3	2	3	1	1	2	3	3	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr21:42647541G>A	ENST00000330333.6	+	9	2010	c.1547G>A	c.(1546-1548)cGc>cAc	p.R516H	BACE2_ENST00000347667.5_Missense_Mutation_p.R466H|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	516					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GTCAGACATCGCTGGAAATGA	0.547																																																	0													101	85	90					21																	42647541		2203	4300	6503	SO:0001583	missense	0			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.1547G>A	21.37:g.42647541G>A	ENSP00000332979:p.Arg516His		A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1	p.R516H	ENST00000330333.6	37	c.1547	CCDS13668.1	21	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021182	0.93462	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000544566	T;T	0.66638	-0.04;-0.22	5.48	4.59	0.56863	.	0.066187	0.64402	D	0.000008	T	0.72203	0.3431	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.75153	-0.3418	10	0.87932	D	0	.	13.8355	0.63406	0.0746:0.0:0.9254:0.0	.	466;516	Q9Y5Z0-2;Q9Y5Z0	.;BACE2_HUMAN	H	516;466;421	ENSP00000332979:R516H;ENSP00000327528:R466H	ENSP00000332979:R516H	R	+	2	0	BACE2	41569411	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.014000	0.70784	2.593000	0.87608	0.650000	0.86243	CGC	BACE2	-	NULL	ENSG00000182240		0.547	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	-	0	9	0	G			42647541	1	tier1	-	no_errors	ENST00000330333	ensembl	human	known	74_37	missense	44.44	5	4	SNP	1.000	A	A	42647541	G	A	42647541	3	1	94	1	0	0	0	0	1	0	0	0	1283	1087	38	1	1581	1	BACE2	21	42647541	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	23018709	42647541	5482354	248	27163											
MCM3AP	8888	genome.wustl.edu	37	chr21	47690475	47690475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatggaactgttgtactTctctgttaattaaaggagag	12	13	11	5	0	1	1	0	0	1	1	2	4	1	3	0	3	2	3	0	3	5	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr21:47690475T>C	ENST00000397708.1	-	10	2722	c.2468A>G	c.(2467-2469)gAa>gGa	p.E823G	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E823G			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	823	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTGTTGTACTTCTCTGTTAAT	0.328																																																	0													65	63	64					21																	47690475		2203	4300	6503	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"germinal-centre associated nuclear protein"	603294	"minichromosome maintenance deficient (S. cerevisiae) 3-associated protein", "MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2468A>G	21.37:g.47690475T>C	ENSP00000380820:p.Glu823Gly		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.E823G	ENST00000397708.1	37	c.2468	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	T	28.9	4.958994	0.92726	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.33654	1.4;1.4	5.98	5.98	0.97165	.	0.043465	0.85682	D	0.000000	T	0.63105	0.2483	M	0.80616	2.505	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.65763	-0.6089	10	0.52906	T	0.07	-27.6302	16.4578	0.84025	0.0:0.0:0.0:1.0	.	823	O60318	MCM3A_HUMAN	G	823	ENSP00000380820:E823G;ENSP00000291688:E823G	ENSP00000291688:E823G	E	-	2	0	MCM3AP	46514903	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.774000	0.85478	2.288000	0.76882	0.482000	0.46254	GAA	MCM3AP	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	ENSG00000160294		0.328	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	-	0	83	0	T	NM_003906		47690475	-1	tier1	-	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	C	C	47690475	T	C	47690475	3	2	94	1	0	0	0	0	1	0	0	0	9426	1783	62	4	3554	4	MCM3AP	21	47690475	Missense_Mutation	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09	5042934	47690475	439420	249	27164											
TXNRD2	10587	genome.wustl.edu	37	chr22	19870861	19870861	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgtacctccaccacgtcaCcaatggcgtagatgtggggc	8	7	12	14	3	1	1	1	0	0	1	2	1	2	1	5	3	1	2	5	3	3	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:19870861C>A	ENST00000400521.1	-	12	1079	c.1073G>T	c.(1072-1074)gGt>gTt	p.G358V	TXNRD2_ENST00000542719.1_Missense_Mutation_p.G328V|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G357V|TXNRD2_ENST00000400519.1_Missense_Mutation_p.G357V|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G328V	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	358					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CACCACGTCACCAATGGCGTA	0.647																																																	0													88	100	96					22																	19870861		2062	4208	6270	SO:0001583	missense	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"thioredoxin reductase beta", "selenoprotein Z"	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1073G>T	22.37:g.19870861C>A	ENSP00000383365:p.Gly358Val		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.G357V	ENST00000400521.1	37	c.1070	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130106	0.56721	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.07	5.07	0.68467	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.99454	4.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99823	1.1048	10	0.87932	D	0	-20.8911	18.8357	0.92162	0.0:1.0:0.0:0.0	.	358;357	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	V	328;358;358;335;262;357;357;328	ENSP00000383362:G328V;ENSP00000383365:G358V;ENSP00000383369:G335V;ENSP00000383363:G357V;ENSP00000439314:G357V;ENSP00000439570:G328V	ENSP00000383362:G328V	G	-	2	0	TXNRD2	18250861	1.000000	0.71417	0.859000	0.33776	0.028000	0.11728	6.596000	0.74113	2.515000	0.84797	0.563000	0.77884	GGT	TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000184470		0.647	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	-	0	52	0	C	NM_006440		19870861	-1	tier1	-	no_errors	ENST00000535882	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	A	A	19870861	C	A	19870861	3	1	94	1	0	0	0	0	1	0	0	0	16857	507	18	3	525	3	TXNRD2	22	19870861	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09		19870861	31433705	250	27165											
ARVCF	421	genome.wustl.edu	37	chr22	19969146	19969146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaatgccggtccagggCaccatctgcaaaagggccta	12	5	12	12	1	1	0	0	0	1	0	2	1	2	1	4	4	2	2	4	4	4	1			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:19969146C>T	ENST00000263207.3	-	5	775	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	ARVCF_ENST00000401994.1_Missense_Mutation_p.A99T|ARVCF_ENST00000344269.3_Missense_Mutation_p.A99T|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000406259.1_Missense_Mutation_p.A162T|ARVCF_ENST00000406522.1_Missense_Mutation_p.A99T	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	162					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CGGTCCAGGGCACCATCTGCA	0.672																																																	0													30	37	35					22																	19969146		2173	4256	6429	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"Armadillo repeat containing"	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.484G>A	22.37:g.19969146C>T	ENSP00000263207:p.Ala162Thr		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A162T	ENST00000263207.3	37	c.484	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	C	5.627	0.300426	0.10678	.	.	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	4.43	2.33	0.28932	.	0.479636	0.23577	N	0.046681	T	0.07954	0.0199	N	0.01352	-0.895	0.29374	N	0.863824	B	0.12630	0.006	B	0.12837	0.008	T	0.20009	-1.0288	9	.	.	.	-13.6528	2.8973	0.05694	0.2595:0.3011:0.4394:0.0	.	162	O00192	ARVC_HUMAN	T	162;99;99;99;162	ENSP00000263207:A162T;ENSP00000342042:A99T;ENSP00000384341:A99T;ENSP00000384732:A99T;ENSP00000385444:A162T	.	A	-	1	0	ARVCF	18349146	0.937000	0.31787	0.997000	0.53966	0.815000	0.46073	1.403000	0.34612	1.208000	0.43306	-0.371000	0.07208	GCC	ARVCF	-	NULL	ENSG00000099889		0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0	46	0	C	NM_001670		19969146	-1	tier1	-	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	43.48	26	20	SNP	1.000	T	T	19969146	C	T	19969146	3	4	94	1	0	0	0	0	1	0	0	0	1004	710	25	3	2464	3	ARVCF	22	19969146	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	98285	19969146	31335420	251	27166											
C22orf30	253143	genome.wustl.edu	37	chr22	32110959	32110959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgtttcaactgattttaCatttttaaaactggagaaca	14	15	7	5	0	1	2	1	1	0	1	1	4	1	2	0	1	4	1	0	1	5	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:32110959C>T	ENST00000327423.6	-	4	3055	c.2866G>A	c.(2866-2868)Gta>Ata	p.V956I	PRR14L_ENST00000461722.1_5'Flank|PRR14L_ENST00000434485.1_Missense_Mutation_p.V956I|PRR14L_ENST00000397493.2_Missense_Mutation_p.V956I	NM_173566.2	NP_775837.2	Q5THK1	PR14L_HUMAN	proline rich 14-like	956										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						ACTGATTTTACATTTTTAAAA	0.398																																																	0													147	99	113					22																	32110959		692	1591	2283	SO:0001583	missense	0			BC040859	CCDS13900.2	22q12.2	2011-01-25	2011-01-25	2011-01-25	ENSG00000183530	ENSG00000183530			28738	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 30"	C22orf30		12477932	Standard	NM_173566		Approved	MGC50372	uc003alp.4	Q5THK1	OTTHUMG00000030139	ENST00000327423.6:c.2866G>A	22.37:g.32110959C>T	ENSP00000331845:p.Val956Ile		Q5THK4|Q6ZNN1|Q6ZWH0|Q8IW74|Q9H5T4	Missense_Mutation	SNP	NULL	p.V956I	ENST00000327423.6	37	c.2866	CCDS13900.2	22	.	.	.	.	.	.	.	.	.	.	C	0.879	-0.729287	0.03135	.	.	ENSG00000183530	ENST00000397493;ENST00000327423;ENST00000434485	T;T;T	0.07567	3.18;3.2;3.19	5.22	-3.5	0.04710	.	0.983847	0.08296	N	0.967674	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.45833	-0.9234	9	.	.	.	0.2987	6.6666	0.23044	0.1192:0.4029:0.0:0.4779	.	956;956;956	Q5THK1-2;Q5THK1;Q5THK1-4	.;PR14L_HUMAN;.	I	956	ENSP00000380630:V956I;ENSP00000331845:V956I;ENSP00000388314:V956I	.	V	-	1	0	PRR14L	30440959	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.528000	0.02225	-0.923000	0.03785	-1.084000	0.02203	GTA	PRR14L	-	NULL	ENSG00000183530		0.398	PRR14L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR14L	HGNC	protein_coding	OTTHUMT00000074993.2	-	0	49	0	C	NM_173566		32110959	-1	tier1	-	no_errors	ENST00000397493	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.000	T	T	32110959	C	T	32110959	3	4	94	1	0	0	0	0	1	0	0	0	2149	478	17	3	3613	3	C22orf30	22	32110959	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	12141813	32110959	19193607	252	27167											
SLC25A17	10478	genome.wustl.edu	37	chr22	41173083	41173083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaggggataggtcacCgtggtggcaatcgctttggc	6	10	16	9	2	2	0	1	0	1	0	3	1	2	1	1	6	1	3	1	6	2	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:41173083C>T	ENST00000435456.2	-	7	787	c.654G>A	c.(652-654)acG>acA	p.T218T	SLC25A17_ENST00000402844.3_Silent_p.T136T|SLC25A17_ENST00000542412.1_Silent_p.T145T|SLC25A17_ENST00000544408.1_Silent_p.T181T|SLC25A17_ENST00000491545.1_5'UTR	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	218					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|cellular lipid metabolic process (GO:0044255)|coenzyme A transmembrane transport (GO:0035349)|FAD transmembrane transport (GO:0035350)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|fatty acid transport (GO:0015908)|NAD transport (GO:0043132)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)	integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|chaperone binding (GO:0051087)|coenzyme A transmembrane transporter activity (GO:0015228)|FAD transmembrane transporter activity (GO:0015230)|FMN transmembrane transporter activity (GO:0044610)|NAD transporter activity (GO:0051724)			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GATAGGTCACCGTGGTGGCAA	0.453																																																	0													95	78	84					22																	41173083		2203	4300	6503	SO:0001819	synonymous_variant	0			Y12860	CCDS14005.1, CCDS74868.1	22q13.2	2013-05-22	2002-08-29		ENSG00000100372	ENSG00000100372		"Solute carriers"	10987	protein-coding gene	gene with protein product	"peroxisomal membrane protein (34kD)"	606795	"solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kD), member 17"			9874197	Standard	NM_006358		Approved	PMP34	uc003azc.3	O43808	OTTHUMG00000151139	ENST00000435456.2:c.654G>A	22.37:g.41173083C>T			A8KA59|Q5TFL0|Q9UGW8|Q9UGY7	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.T218	ENST00000435456.2	37	c.654	CCDS14005.1	22																																																																																			SLC25A17	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000100372		0.453	SLC25A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A17	HGNC	protein_coding	OTTHUMT00000321487.1	-	0	34	0	C	NM_006358		41173083	-1	tier1	-	no_errors	ENST00000435456	ensembl	human	known	74_37	silent	36.36	21	12	SNP	0.003	T	T	41173083	C	T	41173083	2	4	94	1	0	0	0	0	0	0	0	1	14524	639	23	1		1	SLC25A17	22	41173083	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	9062124	41173083	10131483	253	27168											
CELSR1	9620	genome.wustl.edu	37	chr22	46786324	46786324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaaggagatggtggtacAgttaaagagctctgggggca	12	7	16	6	1	1	2	0	0	1	2	1	4	1	2	0	5	2	4	0	5	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:46786324A>G	ENST00000262738.3	-	17	6309	c.6310T>C	c.(6310-6312)Tgt>Cgt	p.C2104R		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2104					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATGGTGGTACAGTTAAAGAGC	0.597											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													72	64	67					22																	46786324		2203	4300	6503	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6310T>C	22.37:g.46786324A>G	ENSP00000262738:p.Cys2104Arg	941	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.C2104R	ENST00000262738.3	37	c.6310	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	A	19.98	3.927834	0.73327	.	.	ENSG00000075275	ENST00000262738	D	0.90444	-2.67	4.34	4.34	0.51931	GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.85682	U	0.000000	D	0.95475	0.8530	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96137	0.9097	10	0.87932	D	0	.	13.6449	0.62275	1.0:0.0:0.0:0.0	.	425;2104	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	R	2104	ENSP00000262738:C2104R	ENSP00000262738:C2104R	C	-	1	0	CELSR1	45164988	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	8.311000	0.89973	1.960000	0.56953	0.533000	0.62120	TGT	CELSR1	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000075275		0.597	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1		0	75	0	A	NM_014246		46786324	-1			no_errors	ENST00000262738	ensembl	human	known	74_37	missense	8.70	41	4	SNP	1.000	G	G	46786324	A	G	46786324	3	3	94	1	0	0	0	0	1	0	0	0	3228	188	7	4	2810	4	CELSR1	22	46786324	Missense_Mutation	SNP	A	TCGA-L5-A8NV-01A-11D-A37C-09	5613241	46786324	4518242	254	27169											
GRAMD4	23151	genome.wustl.edu	37	chr22	47057313	47057313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctcagcagcccccaaaagGgcaggcccaggccagcaatg	11	2	13	15	0	1	0	1	0	0	0	1	0	1	0	4	4	3	4	4	4	3	0			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:47057313G>T	ENST00000406902.1	+	5	653	c.440G>T	c.(439-441)gGg>gTg	p.G147V	GRAMD4_ENST00000361034.3_Missense_Mutation_p.G147V			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	147					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCCCCAAAAGGGCAGGCCCAG	0.617																																																	0													44	46	45					22																	47057313		2202	4300	6502	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.440G>T	22.37:g.47057313G>T	ENSP00000385689:p.Gly147Val		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.G147V	ENST00000406902.1	37	c.440	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	g	8.606	0.887950	0.17540	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.39229	1.09;1.09	5.13	4.1	0.47936	.	0.493820	0.16781	N	0.199768	T	0.24160	0.0585	N	0.08118	0	0.33380	D	0.574754	B	0.16396	0.017	B	0.20577	0.03	T	0.24154	-1.0168	10	0.28530	T	0.3	-27.2041	12.0535	0.53520	0.0:0.174:0.826:0.0	.	147	Q6IC98	GRAM4_HUMAN	V	147	ENSP00000385689:G147V;ENSP00000354313:G147V	ENSP00000354313:G147V	G	+	2	0	GRAMD4	45435977	0.229000	0.23729	0.165000	0.22776	0.492000	0.33523	1.355000	0.34068	1.286000	0.44565	0.552000	0.68991	GGG	GRAMD4	-	NULL	ENSG00000075240		0.617	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	-	0	58	0	G	NM_015124		47057313	1	tier1	-	no_errors	ENST00000361034	ensembl	human	known	74_37	missense	11.48	54	7	SNP	0.409	T	T	47057313	G	T	47057313	3	4	94	1	0	0	0	0	1	0	0	0	6779	1232	43	3	454	3	GRAMD4	22	47057313	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	270989	47057313	4247253	255	27170											
ALG12	79087	genome.wustl.edu	37	chr22	50301593	50301593	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccacagcagcggggaggtCtgcgggctgggttaaggagg	8	6	19	8	2	1	0	0	0	1	0	1	2	1	2	1	7	4	3	1	7	2	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:50301593C>T	ENST00000330817.6	-	7	1042		c.e7-1			NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCGGGGAGGTCTGCGGGCTGG	0.642																																																	0													36	41	39					22																	50301593		2202	4300	6502	SO:0001630	splice_region_variant	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"Dolichyl D-mannosyl phosphate dependent mannosyltransferases"	19358	protein-coding gene	gene with protein product	"dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase", "dol-P-Man dependent alpha-1,6-mannosyltransferase"	607144	"asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)", "asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.769-1G>A	22.37:g.50301593C>T			A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Splice_Site	SNP	-	e6-1	ENST00000330817.6	37	c.769-1	CCDS14081.1	22	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276161	0.40294	.	.	ENSG00000182858	ENST00000330817	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2417	0.89969	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALG12	48687597	1.000000	0.71417	0.979000	0.43373	0.507000	0.33981	4.267000	0.58877	2.378000	0.81104	0.655000	0.94253	.	ALG12	-	-	ENSG00000182858		0.642	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2	-	0	37	0	C	NM_024105	Intron	50301593	-1	tier1	-	no_errors	ENST00000330817	ensembl	human	known	74_37	splice_site	28.12	23	9	SNP	1.000	T	T	50301593	C	T	50301593	5	4	94	1	0	0	0	0	0	0	1	0	514	927	32	3	714	3	ALG12	22	50301593	Splice_Site	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	3244280	50301593	1002973	256	27171											
LMF2	91289	genome.wustl.edu	37	chr22	50942261	50942261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccaaactgcctgagcagCgtctccagcgtggggtcccc	7	7	12	15	2	1	1	0	1	1	0	4	1	3	1	5	2	5	1	5	2	1	0	rs199878629	byFrequency	TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chr22:50942261C>T	ENST00000474879.2	-	13	1806	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Silent_p.T484T|LMF2_ENST00000216080.5_Silent_p.T572T	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	597						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCTGAGCAGCGTCTCCAGCG	0.647																																																	0										0,4406		0,0,2203	61	67	65		1791	-2.1	0	22		65	1,8599		0,1,4299	no	coding-synonymous	LMF2	NM_033200.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		597/708	50942261	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1791G>A	22.37:g.50942261C>T			A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	pfam_LMF	p.T597	ENST00000474879.2	37	c.1791	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	c	9.107	1.005557	0.19199	0.0	1.16E-4	ENSG00000100258	ENST00000487499	.	.	.	5.51	-2.08	0.07254	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.23496	N	0.997559	.	.	.	.	.	.	T	0.25363	-1.0134	4	.	.	.	-10.7483	2.5447	0.04734	0.1164:0.285:0.3768:0.2218	.	.	.	.	T	604	.	.	A	-	1	0	LMF2	49289127	0.000000	0.05858	0.010000	0.14722	0.904000	0.53231	-2.186000	0.01251	-0.532000	0.06332	-0.219000	0.12488	GCT	LMF2	-	NULL	ENSG00000100258		0.647	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	-	0	96	0	C	NM_033200		50942261	-1	tier1	rs199878629	no_errors	ENST00000474879	ensembl	human	known	74_37	silent	18.00	82	18	SNP	0.007	T	T	50942261	C	T	50942261	2	4	94	1	0	0	0	0	0	0	0	1	8876	755	27	1		1	LMF2	22	50942261	Silent	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	640668	50942261	362305	257	27172											
ARSF	416	genome.wustl.edu	37	chrX	2990074	2990074	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgctttccaggagacccTtggtcttcatgtctttggtg	4	16	11	10	0	3	1	1	0	2	1	4	2	4	1	2	3	1	2	2	3	0	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chrX:2990074T>C	ENST00000381127.1	+	3	240	c.19T>C	c.(19-21)Ttg>Ctg	p.L7L	ARSF_ENST00000359361.2_Silent_p.L7L|ARSF_ENST00000537104.1_Silent_p.L7L	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	7					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGAGACCCTTGGTCTTCAT	0.488																																																	0													172	130	144					X																	2990074		2203	4300	6503	SO:0001819	synonymous_variant	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.19T>C	X.37:g.2990074T>C			Q8TCC5	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.L7	ENST00000381127.1	37	c.19	CCDS14123.1	X																																																																																			ARSF	-	NULL	ENSG00000062096		0.488	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	HGNC	protein_coding	OTTHUMT00000055652.1	-	0	23	0	T			2990074	1	tier1	-	no_errors	ENST00000359361	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.000	C	C	2990074	T	C	2990074	2	2	94	1	0	0	0	0	0	0	0	1	992	1606	56	4		4	ARSF	23	2990074	Silent	SNP	T	TCGA-L5-A8NV-01A-11D-A37C-09		2990074	152280486	258	27173											
MXRA5	25878	genome.wustl.edu	37	chrX	3241682	3241682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcctttgcacctgggcGtctgcctcttttggatggca	6	12	12	11	1	2	1	0	0	2	1	2	2	2	2	3	3	3	2	3	3	1	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chrX:3241682G>A	ENST00000217939.6	-	5	2198	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCTGGGCGTCTGCCTCTT	0.532																																																	0													79	73	75					X																	3241682		2203	4300	6503	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2044C>T	X.37:g.3241682G>A	ENSP00000217939:p.Arg682Cys		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R682C	ENST00000217939.6	37	c.2044	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	g	11.77	1.738176	0.30774	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66815	-0.23	3.48	3.48	0.39840	.	0.561089	0.14863	U	0.293997	T	0.58779	0.2146	N	0.08118	0	0.31286	N	0.689964	D	0.76494	0.999	P	0.54924	0.764	T	0.64728	-0.6339	10	0.56958	D	0.05	.	13.0265	0.58819	0.0:0.0:1.0:0.0	.	682	Q9NR99	MXRA5_HUMAN	C	682	ENSP00000217939:R682C	ENSP00000217939:R682C	R	-	1	0	MXRA5	3251682	0.995000	0.38212	0.006000	0.13384	0.006000	0.05464	2.998000	0.49465	1.370000	0.46153	0.529000	0.55759	CGC	MXRA5	-	NULL	ENSG00000101825		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	-	0	33	0	G	NM_015419		3241682	-1	tier1	-	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	57.14	11	16	SNP	0.691	A	A	3241682	G	A	3241682	3	1	94	1	0	0	0	0	1	0	0	0	10041	1145	40	1	6454	1	MXRA5	23	3241682	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	251608	3241682	152028878	259	27174											
PTCHD1	139411	genome.wustl.edu	37	chrX	23410816	23410816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggggccagccctttcaCgaacattgaggcagccagga	11	6	12	12	1	1	1	1	1	0	0	1	3	1	2	3	4	3	1	3	4	2	3			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chrX:23410816C>T	ENST00000379361.4	+	3	2041	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	394	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCCCTTTCACGAACATTGAG	0.478																																																	0													126	107	113					X																	23410816		2203	4300	6503	SO:0001583	missense	0			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1181C>T	X.37:g.23410816C>T	ENSP00000368666:p.Thr394Met		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.T394M	ENST00000379361.4	37	c.1181	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340282	0.60963	.	.	ENSG00000165186	ENST00000379361	D	0.91686	-2.89	5.32	5.32	0.75619	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95538	0.8550	M	0.66297	2.02	0.58432	D	0.999998	D	0.71674	0.998	D	0.81914	0.995	D	0.95584	0.8649	10	0.56958	D	0.05	.	18.3219	0.90241	0.0:1.0:0.0:0.0	.	394	Q96NR3	PTHD1_HUMAN	M	394	ENSP00000368666:T394M	ENSP00000368666:T394M	T	+	2	0	PTCHD1	23320737	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	7.445000	0.80570	2.353000	0.79882	0.600000	0.82982	ACG	PTCHD1	-	pfam_Patched,pfscan_SSD	ENSG00000165186		0.478	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	-	0	21	0	C	NM_173495		23410816	1	tier1	-	no_errors	ENST00000379361	ensembl	human	known	74_37	missense	59.38	13	19	SNP	1.000	T	T	23410816	C	T	23410816	3	4	94	1	0	0	0	0	1	0	0	0	12774	536	19	1	1191	1	PTCHD1	23	23410816	Missense_Mutation	SNP	C	TCGA-L5-A8NV-01A-11D-A37C-09	20169134	23410816	131859744	260	27175											
EIF2S3	1968	genome.wustl.edu	37	chrX	24091268	24091268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggatccctgtcaacaggaGggagagttagtgctgtcaag	11	9	14	7	0	2	1	2	0	0	1	3	4	3	3	1	3	2	2	1	3	4	2			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chrX:24091268G>T	ENST00000253039.4	+	11	1496	c.1243G>T	c.(1243-1245)Ggg>Tgg	p.G415W	EIF2S3_ENST00000460032.1_3'UTR	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	415					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTCAACAGGAGGGAGAGTTAG	0.408																																																	0													166	158	161					X																	24091268		2203	4300	6503	SO:0001583	missense	0			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"eukaryotic translation initiation factor 2G"	300161	"eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.1243G>T	X.37:g.24091268G>T	ENSP00000253039:p.Gly415Trp		B5BTZ4	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.G415W	ENST00000253039.4	37	c.1243	CCDS14210.1	X	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574486	0.86542	.	.	ENSG00000130741	ENST00000253039	T	0.69040	-0.37	4.97	4.97	0.65823	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation initiation factor 2, gamma subunit, C-terminal (1);	0.055440	0.64402	D	0.000001	D	0.88573	0.6473	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92984	0.6409	10	0.87932	D	0	.	17.6173	0.88071	0.0:0.0:1.0:0.0	.	415	P41091	IF2G_HUMAN	W	415	ENSP00000253039:G415W	ENSP00000253039:G415W	G	+	1	0	EIF2S3	24001189	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.365000	0.97139	2.176000	0.68965	0.594000	0.82650	GGG	EIF2S3	-	pfam_TIF2_gsu_C,superfamily_Transl_elong_EF1A/Init_IF2_C	ENSG00000130741		0.408	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S3	HGNC	protein_coding	OTTHUMT00000056079.1	-	0	48	0	G	NM_001415		24091268	1	tier1	-	no_errors	ENST00000253039	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	24091268	G	T	24091268	3	4	94	1	0	0	0	0	1	0	0	0	5025	1000	35	3	1285	3	EIF2S3	23	24091268	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	680452	24091268	131179292	261	27176											
DACH2	117154	genome.wustl.edu	37	chrX	86069837	86069837	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctgaggatgttaaaaGgtaatgtctgatttggattt	10	15	13	3	0	1	2	0	2	1	0	1	4	1	4	1	4	0	2	1	4	3	4			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chrX:86069837G>A	ENST00000373125.4	+	10	1684	c.1684G>A	c.(1684-1686)Gat>Aat	p.D562N	DACH2_ENST00000373131.1_Splice_Site_p.D549N|DACH2_ENST00000508860.1_Splice_Site_p.D395N|DACH2_ENST00000510272.1_Splice_Site_p.D343N	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	562					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GATGTTAAAAGGTAATGTCTG	0.418																																																	0													53	44	47					X																	86069837		2203	4300	6503	SO:0001630	splice_region_variant	0			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"dachshund homolog 2 (Drosophila)"				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1684+1G>A	X.37:g.86069837G>A			B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.D562N	ENST00000373125.4	37	c.1684	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615898	0.66672	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.86097	-2.04;-2.07	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000006	D	0.84392	0.5462	L	0.32530	0.975	0.53688	D	0.999972	P;B;B;B	0.51933	0.949;0.365;0.211;0.39	P;B;B;B	0.51016	0.656;0.216;0.13;0.089	D	0.85580	0.1239	10	0.48119	T	0.1	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	428;562;549;562	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	N	562;549;562;395;343;395;227	ENSP00000362223:D549N;ENSP00000362217:D562N	ENSP00000345134:D562N	D	+	1	0	DACH2	85956493	1.000000	0.71417	0.996000	0.52242	0.759000	0.43091	7.921000	0.87530	1.932000	0.55993	0.415000	0.27848	GAT	DACH2	-	NULL	ENSG00000126733		0.418	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	-	0	26	0	G	NM_053281	Missense_Mutation	86069837	1	tier1	-	no_errors	ENST00000373125	ensembl	human	known	74_37	missense	51.35	18	19	SNP	1.000	A	A	86069837	G	A	86069837	5	1	94	1	0	0	0	0	0	0	1	0	4230	1014	35	3	1722	3	DACH2	23	86069837	Splice_Site	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	61978569	86069837	69200723	262	27177											
PCDH11X	27328	genome.wustl.edu	37	chrX	91090519	91090519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatggacttgttgtccGggacgtacattttcgcggtc	5	14	13	9	4	0	0	0	0	0	0	3	2	1	2	1	4	1	3	1	4	2	6			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chrX:91090519G>T	ENST00000373094.1	+	1	861	c.16G>T	c.(16-18)Ggg>Tgg	p.G6W	PCDH11X_ENST00000406881.1_Missense_Mutation_p.G6W|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G6W|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G6W|PCDH11X_ENST00000504220.2_Missense_Mutation_p.G6W|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G6W|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G6W|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G6W|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G6W	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	6					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTGTTGTCCGGGACGTACAT	0.478																																					NSCLC(38;925 1092 2571 38200 45895)												0													127	105	113					X																	91090519		2203	4300	6503	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.16G>T	X.37:g.91090519G>T	ENSP00000362186:p.Gly6Trp		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G6W	ENST00000373094.1	37	c.16	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816952	0.50633	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53640	0.62;0.65;0.66;0.61;0.67;0.65;0.64;0.67;0.67	4.46	4.46	0.54185	.	0.191668	0.38326	N	0.001732	T	0.48943	0.1528	N	0.08118	0	0.35670	D	0.813245	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.79784	0.981;0.99;0.993;0.993;0.993;0.985;0.989;0.989	T	0.65944	-0.6045	10	0.59425	D	0.04	.	15.517	0.75833	0.0:0.0:1.0:0.0	.	6;6;6;6;6;6;6;6	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	W	6	ENSP00000378746:G6W;ENSP00000362186:G6W;ENSP00000362189:G6W;ENSP00000355040:G6W;ENSP00000362180:G6W;ENSP00000423762:G6W;ENSP00000355105:G6W;ENSP00000384758:G6W;ENSP00000298274:G6W	ENSP00000298274:G6W	G	+	1	0	PCDH11X	90977175	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.530000	0.67141	1.935000	0.56089	0.415000	0.27848	GGG	PCDH11X	-	NULL	ENSG00000102290		0.478	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0	52	0	G	NM_032969		91090519	1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	54.55	30	36	SNP	1.000	T	T	91090519	G	T	91090519	3	4	94	1	0	0	0	0	1	0	0	0	11547	1116	39	2	18	2	PCDH11X	23	91090519	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	5020682	91090519	64180041	263	27178											
TRPC5	7224	genome.wustl.edu	37	chrX	111078237	111078237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgtatgttccaaacatgGtagctcctacaaactcggtg	11	12	8	10	1	0	0	0	0	0	0	3	0	2	0	2	2	4	4	2	2	5	5			TCGA-L5-A8NV-01A-11D-A37C-09	TCGA-L5-A8NV-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a5818360-5a6d-4513-9b7b-07a0fd43189a	6b659589-badb-4cff-9ca1-e9c1c2c1c86f	g.chrX:111078237G>T	ENST00000262839.2	-	7	2726	c.1808C>A	c.(1807-1809)aCc>aAc	p.T603N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	603					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCAAACATGGTAGCTCCTAC	0.428																																																	0													343	301	315					X																	111078237		2203	4300	6503	SO:0001583	missense	0			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"Voltage-gated ion channels / Transient receptor potential cation channels"	12337	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 159"	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1808C>A	X.37:g.111078237G>T	ENSP00000262839:p.Thr603Asn		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.T603N	ENST00000262839.2	37	c.1808	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755363	0.89843	.	.	ENSG00000072315	ENST00000262839	D	0.98550	-4.99	5.56	5.56	0.83823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	M	0.71581	2.175	0.80722	D	1	B;B	0.28783	0.151;0.222	B;B	0.40444	0.232;0.329	D	0.97998	1.0358	10	0.62326	D	0.03	-4.1036	18.5256	0.90971	0.0:0.0:1.0:0.0	.	604;603	Q59G51;Q9UL62	.;TRPC5_HUMAN	N	603	ENSP00000262839:T603N	ENSP00000262839:T603N	T	-	2	0	TRPC5	110964893	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.790000	0.69038	2.318000	0.78349	0.544000	0.68410	ACC	TRPC5	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000072315		0.428	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	-	0	32	0	G	NM_012471		111078237	-1	tier1	-	no_errors	ENST00000262839	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	111078237	G	T	111078237	3	4	94	1	0	0	0	0	1	0	0	0	16630	1261	44	3	1133	3	TRPC5	23	111078237	Missense_Mutation	SNP	G	TCGA-L5-A8NV-01A-11D-A37C-09	19987718	111078237	44192323	264	27179											
CAMTA1	23261	genome.wustl.edu	37	chr1	7700576	7700576	+	Missense_Mutation	SNP	G	G	T																															aagaaggagtgggcgaaatgGacgaaagaagagctcatcgg																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:7700576G>T	ENST00000303635.7	+	7	834	c.627G>T	c.(625-627)tgG>tgT	p.W209C	CAMTA1_ENST00000439411.2_Missense_Mutation_p.W209C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGGCGAAATGGACGAAAGAAG	0.632			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													159	127	138					1																	7700576		2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.627G>T	1.37:g.7700576G>T	ENSP00000306522:p.Trp209Cys		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.W209C	ENST00000303635.7	37	c.627	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032861	0.75504	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.38887	1.11;1.11	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.59231	-0.7493	10	0.72032	D	0.01	-10.4182	19.0961	0.93251	0.0:0.0:1.0:0.0	.	209	Q9Y6Y1	CMTA1_HUMAN	C	209	ENSP00000306522:W209C;ENSP00000402561:W209C	ENSP00000306522:W209C	W	+	3	0	CAMTA1	7623163	1.000000	0.71417	0.998000	0.56505	0.628000	0.37860	9.764000	0.98949	2.506000	0.84524	0.462000	0.41574	TGG	CAMTA1	-	NULL	ENSG00000171735		0.632	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3		0	45	0	G	NM_015215		7700576	1			no_errors	ENST00000303635	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T	T	7700576	G	T	7700576	3	4	95	1	0	0	0	0	1	0	0	0	2620	1183	41	3	653	3	CAMTA1	1	7700576	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		7700576	241550045	1	27180	100	2									
CAMTA1	23261	genome.wustl.edu	37	chr1	7700578	7700578	+	Missense_Mutation	SNP	C	C	T																															gaaggagtgggcgaaatggaCgaaagaagagctcatcgggc																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:7700578C>T	ENST00000303635.7	+	7	836	c.629C>T	c.(628-630)aCg>aTg	p.T210M	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T210M	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGAAATGGACGAAAGAAGAG	0.637			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													157	125	136					1																	7700578		2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.629C>T	1.37:g.7700578C>T	ENSP00000306522:p.Thr210Met		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.T210M	ENST00000303635.7	37	c.629	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268486	0.80469	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.27890	1.65;1.64	5.36	5.36	0.76844	.	0.058220	0.64402	D	0.000002	T	0.41880	0.1178	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.50415	-0.8831	10	0.87932	D	0	-13.1403	19.0961	0.93251	0.0:1.0:0.0:0.0	.	210	Q9Y6Y1	CMTA1_HUMAN	M	210	ENSP00000306522:T210M;ENSP00000402561:T210M	ENSP00000306522:T210M	T	+	2	0	CAMTA1	7623165	1.000000	0.71417	0.936000	0.37596	0.532000	0.34746	4.837000	0.62796	2.506000	0.84524	0.462000	0.41574	ACG	CAMTA1	-	NULL	ENSG00000171735		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0	46	0	C	NM_015215		7700578	1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	T	T	7700578	C	T	7700578	3	4	95	1	0	0	0	0	1	0	0	0	2620	536	19	1	655	1	CAMTA1	1	7700578	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2	7700578	241550043	2	27181	100	2									
DFFA	1676	genome.wustl.edu	37	chr1	10523661	10523661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgagccaggtctgagcagGgagcgtcaacaagcatctaa	12	6	12	11	1	3	2	1	2	2	0	3	3	3	3	2	2	5	2	2	2	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:10523661G>T	ENST00000377038.3	-	4	525	c.458C>A	c.(457-459)cCc>cAc	p.P153H	DFFA_ENST00000377036.2_Missense_Mutation_p.P153H	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	153					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTCTGAGCAGGGAGCGTCAAC	0.493																																																	0													79	71	74					1																	10523661		2203	4300	6503	SO:0001583	missense	0			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"DNA fragmentation factor, 45 kD, alpha subunit"	601882	"DNA fragmentation factor, 45 kD, alpha polypeptide"			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.458C>A	1.37:g.10523661G>T	ENSP00000366237:p.Pro153His		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom	p.P153H	ENST00000377038.3	37	c.458	CCDS118.1	1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391042	0.62066	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	4.82	4.82	0.62117	DNA fragmentation factor 45kDa, C-terminal (2);	0.048523	0.85682	D	0.000000	T	0.77432	0.4129	M	0.68952	2.095	0.47245	D	0.999368	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	T	0.80139	-0.1507	9	0.72032	D	0.01	-24.4146	16.4397	0.83896	0.0:0.0:1.0:0.0	.	153;153	O00273-2;O00273	.;DFFA_HUMAN	H	153	.	ENSP00000366235:P153H	P	-	2	0	DFFA	10446248	1.000000	0.71417	0.062000	0.19696	0.028000	0.11728	6.604000	0.74150	2.374000	0.81015	0.650000	0.86243	CCC	DFFA	-	pfam_DNA_fragmentation_mid_dom,pirsf_DNA_fragmentation_factor_asu	ENSG00000160049		0.493	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFA	HGNC	protein_coding	OTTHUMT00000005418.1	-	0	39	0	G	NM_004401		10523661	-1	tier1	-	no_errors	ENST00000377038	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.672	T	T	10523661	G	T	10523661	3	4	95	1	0	0	0	0	1	0	0	0	4466	1232	43	3	573	3	DFFA	1	10523661	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2823083	10523661	238726960	3	27182											
PRAMEF4	400735	genome.wustl.edu	37	chr1	12943091	12943091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgaaggcctccatgAacagtggggggaaaagttct	10	9	13	9	0	1	2	0	2	1	0	3	3	3	3	3	4	2	2	3	4	4	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:12943091A>C	ENST00000235349.5	-	2	195	c.125T>G	c.(124-126)tTc>tGc	p.F42C		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	42					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTCCATGAACAGTGGGGG	0.617																																																	0													46	52	50					1																	12943091		2169	4258	6427	SO:0001583	missense	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"-"	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.125T>G	1.37:g.12943091A>C	ENSP00000235349:p.Phe42Cys		Q5LJB5	Missense_Mutation	SNP	NULL	p.F42C	ENST00000235349.5	37	c.125	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	a	12.30	1.897819	0.33535	.	.	ENSG00000243073	ENST00000235349	T	0.06142	3.34	1.48	1.48	0.22813	.	0.079055	0.52532	D	0.000072	T	0.27559	0.0677	H	0.94183	3.505	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04650	-1.0936	10	0.87932	D	0	.	5.1316	0.14913	1.0:0.0:0.0:0.0	.	42	O60810	PRAM4_HUMAN	C	42	ENSP00000235349:F42C	ENSP00000235349:F42C	F	-	2	0	PRAMEF4	12865678	0.038000	0.19896	0.030000	0.17652	0.135000	0.20990	2.445000	0.44899	0.939000	0.37446	0.329000	0.21502	TTC	PRAMEF4	-	NULL	ENSG00000243073		0.617	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	-	0	189	0	A	NM_001009611		12943091	-1	tier1	-	no_errors	ENST00000235349	ensembl	human	known	74_37	missense	24.54	163	53	SNP	0.054	C	C	12943091	A	C	12943091	3	2	95	1	0	0	0	0	1	0	0	0	12479	246	9	4	1323	4	PRAMEF4	1	12943091	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	2419430	12943091	236307530	4	27183											
HSPG2	3339	genome.wustl.edu	37	chr1	22168802	22168802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagggcctgggccgctGgctgcacgacacacatactc	7	7	12	15	2	1	0	1	0	0	0	2	1	1	0	2	3	3	4	2	3	1	1	rs143921375		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:22168802G>A	ENST00000374695.3	-	68	9061	c.8982C>T	c.(8980-8982)gcC>gcT	p.A2994A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2994	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGGCCGCTGGCTGCACGAC	0.637																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	48	44	45		8982	-7	0	1	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2994/4392	22168802	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8982C>T	1.37:g.22168802G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.A2994	ENST00000374695.3	37	c.8982	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0	89	0	G	NM_005529		22168802	-1	tier1	rs143921375	no_errors	ENST00000374695	ensembl	human	known	74_37	silent	31.25	55	25	SNP	0.000	A	A	22168802	G	A	22168802	2	1	95	1	0	0	0	0	0	0	0	1	7457	1335	47	3		3	HSPG2	1	22168802	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	9225711	22168802	227081819	5	27184											
MYOM3	127294	genome.wustl.edu	37	chr1	24411017	24411017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagatgtccccaccttccgGgagtagatgtaataacccag	11	9	9	12	1	1	2	1	0	0	2	3	3	3	3	5	1	1	2	5	1	3	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:24411017G>A	ENST00000374434.3	-	16	2073	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	MYOM3_ENST00000330966.7_Silent_p.S638S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Silent_p.S637S|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	637	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CCACCTTCCGGGAGTAGATGT	0.517																																																	0													184	183	184					1																	24411017		1921	4146	6067	SO:0001819	synonymous_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	26679	protein-coding gene	gene with protein product			"myomesin family, member 3"			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1911C>T	1.37:g.24411017G>A			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S638	ENST00000374434.3	37	c.1914	CCDS41281.1	1																																																																																			MYOM3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142661		0.517	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	-	0	63	0	G	NM_152372		24411017	-1	tier1	-	no_errors	ENST00000330966	ensembl	human	known	74_37	silent	20.75	42	11	SNP	1.000	A	A	24411017	G	A	24411017	2	1	95	1	0	0	0	0	0	0	0	1	10131	1219	43	3		3	MYOM3	1	24411017	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2242215	24411017	224839604	6	27185											
TINAGL1	64129	genome.wustl.edu	37	chr1	32049126	32049126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagggcattcgctaccgcCtgggcaccatccgcccatct	7	8	10	16	3	1	1	0	1	1	0	3	1	2	1	5	2	1	3	5	2	1	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:32049126C>T	ENST00000271064.7	+	5	608	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000457433.2_Silent_p.L147L	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	178					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		TCGCTACCGCCTGGGCACCAT	0.572																																																	0													120	93	102					1																	32049126		2203	4300	6503	SO:0001819	synonymous_variant	0			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"lipocalin 7", "TINAG-like 1"	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.532C>T	1.37:g.32049126C>T			A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.L178	ENST00000271064.7	37	c.532	CCDS343.1	1																																																																																			TINAGL1	-	NULL	ENSG00000142910		0.572	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAGL1	HGNC	protein_coding	OTTHUMT00000011072.1	-	0	29	0	C	NM_022164		32049126	1	tier1	-	no_errors	ENST00000271064	ensembl	human	known	74_37	silent	28.57	15	6	SNP	1.000	T	T	32049126	C	T	32049126	2	4	95	1	0	0	0	0	0	0	0	1	15969	680	24	3		3	TINAGL1	1	32049126	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	7638109	32049126	217201495	7	27186											
TESK2	10420	genome.wustl.edu	37	chr1	45813599	45813599	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctacacacctgacatcgGggatcttctcagccaggcca	9	7	11	14	1	2	1	1	1	2	0	4	2	2	2	3	4	2	1	3	4	1	2	rs536554780		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:45813599G>T	ENST00000372086.3	-	6	1014	c.614C>A	c.(613-615)cCc>cAc	p.P205H	TESK2_ENST00000341771.6_Missense_Mutation_p.P205H|TESK2_ENST00000538496.1_Missense_Mutation_p.P122H|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.P205H	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCTGACATCGGGGATCTTCTC	0.542																																																	0													91	94	93					1																	45813599		1986	4165	6151	SO:0001583	missense	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.614C>A	1.37:g.45813599G>T	ENSP00000361158:p.Pro205His		Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P205H	ENST00000372086.3	37	c.614	CCDS41323.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873527	0.91664	.	.	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	D;D;D;D	0.89270	-2.49;-1.6;-2.49;-1.6	5.79	5.79	0.91817	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.91229	0.7236	N	0.25647	0.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.90161	0.4228	10	0.36615	T	0.2	-11.4616	20.0349	0.97554	0.0:0.0:1.0:0.0	.	205;205	Q96S53-3;Q96S53	.;TESK2_HUMAN	H	205;205;189;205;122	ENSP00000361156:P205H;ENSP00000361158:P205H;ENSP00000343940:P205H;ENSP00000441746:P122H	ENSP00000343940:P205H	P	-	2	0	TESK2	45586186	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.580000	0.98207	2.741000	0.93983	0.585000	0.79938	CCC	TESK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000070759		0.542	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	-	0	50	0	G	NM_007170		45813599	-1	tier1	-	no_errors	ENST00000372086	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	45813599	G	T	45813599	3	4	95	1	0	0	0	0	1	0	0	0	15815	1232	43	3	1125	3	TESK2	1	45813599	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	13764473	45813599	203437022	8	27187											
ALG6	29929	genome.wustl.edu	37	chr1	63867955	63867955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgataacaatttacaGtattggggattggattaccc	13	12	10	6	0	0	1	0	1	0	0	0	3	0	3	1	3	4	2	1	3	5	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:63867955G>A	ENST00000371108.4	+	4	503	c.198G>A	c.(196-198)caG>caA	p.Q66Q	ALG6_ENST00000263440.4_Silent_p.Q66Q	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	66					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACAATTTACAGTATTGGGGAT	0.308																																																	0													117	117	117					1																	63867955		2203	4299	6502	SO:0001819	synonymous_variant	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.198G>A	1.37:g.63867955G>A			B3KMU2|Q5SXR9|Q9H3I0	Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.Q66	ENST00000371108.4	37	c.198	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8	ENSG00000088035		0.308	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	-	0	71	0	G	NM_013339		63867955	1	tier1	-	no_errors	ENST00000371108	ensembl	human	known	74_37	silent	25.00	39	13	SNP	1.000	A	A	63867955	G	A	63867955	2	1	95	1	0	0	0	0	0	0	0	1	522	1020	36	3		3	ALG6	1	63867955	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	18054356	63867955	185382666	9	27188											
HS2ST1	9653	genome.wustl.edu	37	chr1	87558249	87558249	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccaatttacattaatgTcataagggatcctattgaga	16	12	7	6	0	1	1	1	1	0	1	2	4	2	2	2	1	2	0	2	1	6	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:87558249T>A	ENST00000370550.5	+	4	848	c.485T>A	c.(484-486)gTc>gAc	p.V162D	RP5-1052I5.2_ENST00000370548.2_Missense_Mutation_p.V136D|HS2ST1_ENST00000370551.4_Missense_Mutation_p.V162D|HS2ST1_ENST00000356813.4_Missense_Mutation_p.V136D	NM_012262.3	NP_036394.1	Q7LGA3	HS2ST_HUMAN	heparan sulfate 2-O-sulfotransferase 1	162					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		TACATTAATGTCATAAGGGAT	0.343																																																	0													93	101	98					1																	87558249		2203	4293	6496	SO:0001583	missense	0			AB007917	CCDS711.1, CCDS44171.1	1p22.3	2008-02-05			ENSG00000153936	ENSG00000153936		"Sulfotransferases, membrane-bound"	5193	protein-coding gene	gene with protein product		604844				9455484	Standard	NM_012262		Approved	KIAA0448	uc010osk.2	Q7LGA3	OTTHUMG00000010255	ENST00000370550.5:c.485T>A	1.37:g.87558249T>A	ENSP00000359581:p.Val162Asp		D3DT22|O75036|Q32NB5|Q8TAC5|Q9H441|Q9NUJ9	Missense_Mutation	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.V162D	ENST00000370550.5	37	c.485	CCDS711.1	1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.313957	0.81358	.	.	ENSG00000153936	ENST00000370551;ENST00000370550;ENST00000370548;ENST00000356813	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	5.51	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.66979	0.948;0.753	T	0.82862	-0.0247	10	0.87932	D	0	-14.9862	12.1912	0.54273	0.1279:0.0:0.0:0.872	.	162;136	Q7LGA3;Q7LGA3-2	HS2ST_HUMAN;.	D	162;162;136;136	ENSP00000359582:V162D;ENSP00000359581:V162D;ENSP00000359579:V136D;ENSP00000349268:V136D	ENSP00000349268:V136D	V	+	2	0	HS2ST1	87330837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.988000	0.88194	1.012000	0.39366	0.528000	0.53228	GTC	HS2ST1	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000153936		0.343	HS2ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS2ST1	HGNC	protein_coding	OTTHUMT00000028279.2	-	0	79	0	T	NM_012262		87558249	1	tier1	-	no_errors	ENST00000370550	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	A	A	87558249	T	A	87558249	3	1	95	1	0	0	0	0	1	0	0	0	7389	1667	58	5	499	5	HS2ST1	1	87558249	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	23690294	87558249	161692372	10	27189											
GBP1	2633	genome.wustl.edu	37	chr1	89520418	89520418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcagcaactggaccctgtCgttctccatcttctcagtca	7	14	6	14	1	5	0	3	0	3	0	8	1	5	1	2	1	2	2	2	1	1	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:89520418C>T	ENST00000370473.4	-	10	1831	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	538					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGGACCCTGTCGTTCTCCATC	0.428																																																	0													295	295	295					1																	89520418		2203	4300	6503	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1612G>A	1.37:g.89520418C>T	ENSP00000359504:p.Asp538Asn		D3DT26|Q5T8M1	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.D538N	ENST00000370473.4	37	c.1612	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252067	0.59212	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.02103	4.45	4.67	4.67	0.58626	Guanylate-binding protein, C-terminal (3);	0.262703	0.35615	N	0.003091	T	0.01627	0.0052	M	0.63428	1.95	0.27099	N	0.96266	B	0.14438	0.01	B	0.11329	0.006	T	0.27872	-1.0061	10	0.56958	D	0.05	.	15.0529	0.71888	0.0:1.0:0.0:0.0	.	538	P32455	GBP1_HUMAN	N	538;501	ENSP00000359504:D538N	ENSP00000359504:D538N	D	-	1	0	GBP1	89293006	0.460000	0.25776	0.021000	0.16686	0.350000	0.29205	1.210000	0.32370	2.151000	0.67156	0.491000	0.48974	GAC	GBP1	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000117228		0.428	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	HGNC	protein_coding	OTTHUMT00000029289.3		0	84	0	C	NM_002053		89520418	-1			no_errors	ENST00000370473	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.536	T	T	89520418	C	T	89520418	3	4	95	1	0	0	0	0	1	0	0	0	6298	884	31	1	174	1	GBP1	1	89520418	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1962169	89520418	159730203	11	27190											
LRRC8D	55144	genome.wustl.edu	37	chr1	90399229	90399229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acattttgtttcaatattagGaaagtgctttgaatcccctt	11	17	6	7	0	1	1	1	1	0	0	2	2	2	2	2	1	1	2	2	1	5	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:90399229G>A	ENST00000337338.5	+	3	1009	c.602G>A	c.(601-603)gGa>gAa	p.G201E	LRRC8D_ENST00000394593.3_Missense_Mutation_p.G201E	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	201					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCAATATTAGGAAAGTGCTTT	0.393																																																	0													59	61	60					1																	90399229		2203	4300	6503	SO:0001583	missense	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"leucine rich repeat containing 5"	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.602G>A	1.37:g.90399229G>A	ENSP00000338887:p.Gly201Glu		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G201E	ENST00000337338.5	37	c.602	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.863898	0.51482	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.43688	1.54;1.54;0.94	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	M	0.65498	2.005	0.80722	D	1	P	0.38420	0.63	B	0.37387	0.248	T	0.14227	-1.0480	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	201	Q7L1W4	LRC8D_HUMAN	E	201	ENSP00000338887:G201E;ENSP00000378093:G201E;ENSP00000405784:G201E	.	G	+	2	0	LRRC8D	90171817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA	LRRC8D	-	NULL	ENSG00000171492		0.393	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	-	0	39	0	G	NM_018103		90399229	1	tier1	-	no_errors	ENST00000337338	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	A	A	90399229	G	A	90399229	3	1	95	1	0	0	0	0	1	0	0	0	9059	1174	41	3	604	3	LRRC8D	1	90399229	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	878811	90399229	158851392	12	27191											
SASS6	163786	genome.wustl.edu	37	chr1	100573416	100573416	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcttaaaacaagctGgtccttatccttgatttcct	8	19	5	9	0	1	1	0	1	1	0	4	1	4	1	3	1	2	2	3	1	4	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:100573416G>A	ENST00000287482.5	-	9	1146	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	SASS6_ENST00000535161.1_Nonsense_Mutation_p.Q169*|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	336					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		AAAACAAGCTGGTCCTTATCC	0.323																																																	0													110	108	108					1																	100573416		2203	4300	6503	SO:0001587	stop_gained	0			AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1006C>T	1.37:g.100573416G>A	ENSP00000287482:p.Gln336*		D3DT55|Q8N3K0	Nonsense_Mutation	SNP	NULL	p.Q336*	ENST00000287482.5	37	c.1006	CCDS764.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.646335	0.98899	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	.	.	.	5.86	5.86	0.93980	.	0.052866	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-12.5026	20.1813	0.98205	0.0:0.0:1.0:0.0	.	.	.	.	X	336;309;169	.	ENSP00000287482:Q336X	Q	-	1	0	SASS6	100346004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.322000	0.79097	2.763000	0.94921	0.585000	0.79938	CAG	SASS6	-	NULL	ENSG00000156876		0.323	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASS6	HGNC	protein_coding	OTTHUMT00000029656.2	-	0	37	0	G	NM_194292		100573416	-1	tier1	-	no_errors	ENST00000287482	ensembl	human	known	74_37	nonsense	23.08	20	6	SNP	1.000	A	A	100573416	G	A	100573416	4	1	95	1	0	0	0	0	0	1	0	0	13895	1357	47	3	1003	3	SASS6	1	100573416	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	10174187	100573416	148677205	13	27192											
CASQ2	845	genome.wustl.edu	37	chr1	116283355	116283355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtataaatacttacatccaaGaggaactccaccaagacatc	17	8	5	11	0	0	2	0	0	0	2	3	3	2	3	3	1	3	1	3	1	8	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:116283355G>T	ENST00000261448.5	-	3	653	c.414C>A	c.(412-414)ctC>ctA	p.L138L	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	138					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTACATCCAAGAGGAACTCCA	0.443																																																	0													113	94	101					1																	116283355		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"Protein disulfide isomerases"	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.414C>A	1.37:g.116283355G>T			B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.L138	ENST00000261448.5	37	c.414	CCDS884.1	1																																																																																			CASQ2	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	ENSG00000118729		0.443	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	HGNC	protein_coding	OTTHUMT00000033091.1	-	0	49	0	G	NM_001232		116283355	-1	tier1	-	no_errors	ENST00000261448	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.935	T	T	116283355	G	T	116283355	2	4	95	1	0	0	0	0	0	0	0	1	2688	929	33	3		3	CASQ2	1	116283355	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	15709939	116283355	132967266	14	27193											
NBPF14	25832	genome.wustl.edu	37	chr1	148009510	148009510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcatccaacagctccccGctgagcctggaaaagtggga	10	8	10	13	1	1	1	1	1	1	0	4	3	3	3	4	2	3	2	4	2	3	1	rs587690666	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:148009510G>T	ENST00000369219.1	-	16	1813	c.1797C>A	c.(1795-1797)agC>agA	p.S599R				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	599	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.S599S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					ACAGCTCCCCGCTGAGCCTGG	0.463																																																	1	Substitution - coding silent(1)	stomach(1)											110	201	177					1																	148009510		1440	4051	5491	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"neuroblastoma breakpoint family"	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1797C>A	1.37:g.148009510G>T	ENSP00000358221:p.Ser599Arg		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.S599R	ENST00000369219.1	37	c.1797		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.04|10.04	1.240608|1.240608	0.22711|0.22711	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000310701|ENST00000369219;ENST00000434489	.|T	.|0.11495	.|2.77	.|.	.|.	.|.	.|DUF1220 (2);	.|.	.|.	.|.	.|.	T|T	0.06781|0.06781	0.0173|0.0173	L|L	0.61036|0.61036	1.89|1.89	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.28618|0.28618	-1.0038|-1.0038	2|4	.|0.49607	.|T	.|0.09	.|.	.|.	.|.	.|.	.|.	.|599	.|Q5TI25	.|NBPFE_HUMAN	E|R	605|599;189	.|ENSP00000358221:S599R	.|ENSP00000358221:S599R	A|S	-|-	2|3	0|2	NBPF14|NBPF14	146476134|146476134	0.993000|0.993000	0.37304|0.37304	.|.	.|.	.|.	.|.	0.748000|0.748000	0.26305|0.26305	.|.	.|.	.|.	.|.	GCG|AGC	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding		-	0	64	0	G	NM_015383		148009510	-1	tier1	-	no_errors	ENST00000369219	ensembl	human	known	74_37	missense	15.32	87	17	SNP	0.000	T	T	148009510	G	T	148009510	3	4	95	1	0	0	0	0	1	0	0	0	10233	1078	38	2	996	2	NBPF14	1	148009510	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	31726155	148009510	101241111	15	27194											
TMEM79	84283	genome.wustl.edu	37	chr1	156255725	156255725	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccatgagttcccgcctGatctacacactgcgctgcgg	7	8	9	17	3	1	2	0	2	1	0	2	2	2	2	4	1	3	2	4	1	1	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:156255725G>C	ENST00000405535.2	+	2	879	c.708G>C	c.(706-708)ctG>ctC	p.L236L	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Silent_p.L236L|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	236					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GTTCCCGCCTGATCTACACAC	0.597																																																	0													114	116	115					1																	156255725		2203	4300	6503	SO:0001819	synonymous_variant	0			BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"mattrin"	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.708G>C	1.37:g.156255725G>C			B2RE22|D3DVB8	Silent	SNP	NULL	p.L236	ENST00000405535.2	37	c.708	CCDS1138.1	1																																																																																			TMEM79	-	NULL	ENSG00000163472		0.597	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM79	HGNC	protein_coding	OTTHUMT00000052101.1	-	0	52	0	G	NM_032323		156255725	1	tier1	-	no_errors	ENST00000295694	ensembl	human	known	74_37	silent	42.86	28	21	SNP	0.227	C	C	156255725	G	C	156255725	2	2	95	1	0	0	0	0	0	0	0	1	16250	1277	45	5		5	TMEM79	1	156255725	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	8246215	156255725	92994896	16	27195											
AIM2	9447	genome.wustl.edu	37	chr1	159036018	159036018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccttcttgggtctcaaaCgtgaagggcttctttgcttt	5	17	10	9	1	3	1	1	1	3	0	4	1	3	1	1	2	3	2	1	2	2	6	rs545837561	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:159036018C>T	ENST00000368130.4	-	4	786	c.498G>A	c.(496-498)acG>acA	p.T166T	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	166	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GGGTCTCAAACGTGAAGGGCT	0.428													C|||	2	0.000399361	0	0	5008	,	,		17509	0		0	False		,,,				2504	0.002																0													93	95	94					1																	159036018		2203	4300	6503	SO:0001819	synonymous_variant	0			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.498G>A	1.37:g.159036018C>T			A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_NA-bd_OB-fold,pfscan_DAPIN,pfscan_HIN200/IF120x	p.T166	ENST00000368130.4	37	c.498	CCDS1181.1	1																																																																																			AIM2	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163568		0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM2	HGNC	protein_coding	OTTHUMT00000090341.1	-	0	41	0	C	NM_004833		159036018	-1	tier1	-	no_errors	ENST00000368130	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.001	T	T	159036018	C	T	159036018	2	4	95	1	0	0	0	0	0	0	0	1	432	523	19	1		1	AIM2	1	159036018	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2780293	159036018	90214603	17	27196											
DARC	2532	genome.wustl.edu	37	chr1	159176175	159176175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaggccacccgcaccctcTtgccctctctgcccctccct	4	8	5	24	1	2	0	0	0	2	0	4	0	3	0	8	1	2	1	8	1	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:159176175T>G	ENST00000368122.2	+	2	1625	c.946T>G	c.(946-948)Ttg>Gtg	p.L316V	DARC_ENST00000537147.1_Missense_Mutation_p.L316V|DARC_ENST00000368121.2_Missense_Mutation_p.L318V|CTA-134P22.2_ENST00000609696.1_RNA	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		316					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCGCACCCTCTTGCCCTCTCT	0.567																																																	0													210	229	223					1																	159176175		2203	4300	6503	SO:0001583	missense	0																														ENST00000368122.2:c.946T>G	1.37:g.159176175T>G	ENSP00000357104:p.Leu316Val		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	prints_Duffy_chemokine_rcpt	p.L318V	ENST00000368122.2	37	c.952	CCDS1183.1	1	.	.	.	.	.	.	.	.	.	.	T	7.095	0.572994	0.13623	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.38560	1.13;1.13;1.13	5.27	-5.16	0.02857	.	.	.	.	.	T	0.11623	0.0283	L	0.38175	1.15	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.005	T	0.42481	-0.9449	9	0.59425	D	0.04	0.0233	6.2781	0.20991	0.0:0.3304:0.3725:0.2972	.	318;316	Q5Y7A1;Q16570	.;DUFFY_HUMAN	V	316;316;316;318	ENSP00000357104:L316V;ENSP00000441985:L316V;ENSP00000357103:L318V	ENSP00000352341:L316V	L	+	1	2	DARC	157442799	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.789000	0.04609	-0.842000	0.04195	-0.418000	0.06021	TTG	DARC	-	NULL	ENSG00000213088		0.567	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARC	HGNC	protein_coding	OTTHUMT00000090338.2	-	0	74	0	T			159176175	1	tier1	-	no_errors	ENST00000368121	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.000	G	G	159176175	T	G	159176175	3	3	95	1	0	0	0	0	1	0	0	0	4249	1606	56	4	979	4	DARC	1	159176175	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	140157	159176175	90074446	18	27197											
SLAMF9	89886	genome.wustl.edu	37	chr1	159923408	159923408	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaccgcaaccacttcctCggatccacaccatctccaga	12	6	6	17	2	1	1	0	0	1	1	5	3	3	3	6	2	1	1	6	2	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:159923408C>A	ENST00000368093.3	-	2	198	c.82G>T	c.(82-84)Gag>Tag	p.E28*	SLAMF9_ENST00000368092.3_Nonsense_Mutation_p.E28*|SLAMF9_ENST00000466773.1_5'Flank	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	28	Ig-like V-type.					integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCACTTCCTCGGATCCACAC	0.527																																																	0													77	77	77					1																	159923408		2203	4300	6503	SO:0001587	stop_gained	0			AY034613	CCDS1191.1, CCDS53392.1	1q23.1	2013-01-11			ENSG00000162723	ENSG00000162723		"Immunoglobulin superfamily / V-set domain containing"	18430	protein-coding gene	gene with protein product		608589				11685473	Standard	NM_033438		Approved	CD2F-10, CD84-H1, SF2001	uc001fus.3	Q96A28	OTTHUMG00000024074	ENST00000368093.3:c.82G>T	1.37:g.159923408C>A	ENSP00000357072:p.Glu28*		Q5JRQ9|Q5JRR0|Q6UWG1	Nonsense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.E28*	ENST00000368093.3	37	c.82	CCDS1191.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168449	0.78339	.	.	ENSG00000162723	ENST00000368093;ENST00000368092	.	.	.	5.61	-1.18	0.09617	.	3.755740	0.00531	N	0.000209	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.3392	4.6865	0.12760	0.0:0.3862:0.2816:0.3322	.	.	.	.	X	28	.	.	E	-	1	0	SLAMF9	158190032	0.000000	0.05858	0.030000	0.17652	0.157000	0.22087	-1.218000	0.02976	0.047000	0.15862	-0.140000	0.14226	GAG	SLAMF9	-	pfam_Ig_V-set	ENSG00000162723		0.527	SLAMF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF9	HGNC	protein_coding	OTTHUMT00000060630.1		0	34	0	C	NM_033438		159923408	-1			no_errors	ENST00000368093	ensembl	human	known	74_37	nonsense	8.11	34	3	SNP	0.013	A	A	159923408	C	A	159923408	4	1	95	1	0	0	0	0	0	1	0	0	14416	893	31	2	799	2	SLAMF9	1	159923408	Nonsense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	747233	159923408	89327213	19	27198											
ARHGAP30	257106	genome.wustl.edu	37	chr1	161022480	161022480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggggtccatcgccagcctGcagtatgctaggcaggtgat	7	9	15	10	1	0	1	0	1	0	0	2	1	1	1	3	4	3	4	3	4	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:161022480G>T	ENST00000368013.3	-	7	1092	c.772C>A	c.(772-774)Cag>Aag	p.Q258K	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q258K|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.Q81K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	258					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCGCCAGCCTGCAGTATGCTA	0.622																																																	0													65	65	65					1																	161022480		2203	4300	6503	SO:0001583	missense	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"Rho GTPase activating proteins"	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.772C>A	1.37:g.161022480G>T	ENSP00000356992:p.Gln258Lys		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q258K	ENST00000368013.3	37	c.772	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149112	0.57151	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.33438	3.03;2.97;1.41	4.05	4.05	0.47172	.	0.308636	0.27816	N	0.017721	T	0.25568	0.0622	L	0.43152	1.355	0.37995	D	0.934047	P;P	0.48640	0.913;0.602	P;P	0.51918	0.684;0.491	T	0.04930	-1.0917	10	0.72032	D	0.01	.	11.6579	0.51328	0.0:0.0:1.0:0.0	.	258;258	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	K	258;258;110;81	ENSP00000356995:Q258K;ENSP00000356992:Q258K;ENSP00000356994:Q81K	ENSP00000356992:Q258K	Q	-	1	0	ARHGAP30	159289104	0.956000	0.32656	0.995000	0.50966	0.225000	0.24961	1.605000	0.36815	2.097000	0.63578	0.549000	0.68633	CAG	ARHGAP30	-	NULL	ENSG00000186517		0.622	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	-	0	62	0	G	NM_181720		161022480	-1	tier1	-	no_errors	ENST00000368013	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.999	T	T	161022480	G	T	161022480	3	4	95	1	0	0	0	0	1	0	0	0	879	1328	46	3	2557	3	ARHGAP30	1	161022480	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1099072	161022480	88228141	20	27199											
EDEM3	80267	genome.wustl.edu	37	chr1	184681718	184681721	+	Frame_Shift_Del	DEL	AAGA	AAGA	-																															atttaaacatttcagccaagAagaaagaatccattctaaaa																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	AAGA	AAGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:184681718_184681721delAAGA	ENST00000318130.8	-	14	1648_1651	c.1382_1385delTCTT	c.(1381-1386)ttcttcfs	p.FF461fs	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Frame_Shift_Del_p.FF418fs	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	461					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCAGCCAAGAAGAAAGAATCCAT	0.265																																																	0																																										SO:0001589	frameshift_variant	0			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"chromosome 1 open reading frame 22"	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1382_1385delTCTT	1.37:g.184681722_184681725delAAGA	ENSP00000318147:p.Phe461fs		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Frame_Shift_Del	DEL	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.F461fs	ENST00000318130.8	37	c.1385_1382	CCDS1363.2	1																																																																																			EDEM3	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000116406		0.265	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3		0	98	0	AAGA	NM_025191		184681721	-1	tier1		no_errors	ENST00000318130	ensembl	human	known	74_37	frame_shift_del	20.29	55	14	DEL	1.000:1.000:1.000:1.000	-	-	184681721	AAGA	-	184681718	7	5	95	1	0	1	0	1	0	0	0	0	4927	246	9	0	1441	0	EDEM3	1	184681718	Frame_Shift_Del	DEL	AAGA	TCGA-L5-A8NW-01A-11D-A37C-09	23659238	184681718	64568903	21	27200											
CFHR3	10878	genome.wustl.edu	37	chr1	196757398	196757398	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggattcatttccgaatcTtcctctatttatattttaaa	12	19	3	7	1	3	0	1	0	2	0	5	2	5	1	2	1	0	0	2	1	7	9			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:196757398T>A	ENST00000367425.4	+	4	575	c.483T>A	c.(481-483)tcT>tcA	p.S161S	CFHR3_ENST00000391985.3_Intron|CFHR3_ENST00000471440.2_Silent_p.S161S	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	161	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TTTCCGAATCTTCCTCtattt	0.264																																																	0													8	13	12					1																	196757398		1459	3832	5291	SO:0001819	synonymous_variant	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"Complement system"	16980	protein-coding gene	gene with protein product	"complement factor H related 3"	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.483T>A	1.37:g.196757398T>A			B4DPR0|Q9UJ16	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S161	ENST00000367425.4	37	c.483	CCDS30958.1	1																																																																																			CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116785		0.264	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	-	0	102	0	T	NM_021023		196757398	1	tier1	-	no_errors	ENST00000367425	ensembl	human	known	74_37	silent	17.33	62	13	SNP	0.003	A	A	196757398	T	A	196757398	2	1	95	1	0	0	0	0	0	0	0	1	3293	1596	56	5		5	CFHR3	1	196757398	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	12075680	196757398	52493223	22	27201											
CFHR5	81494	genome.wustl.edu	37	chr1	196953134	196953134	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaatggtcattctgaatcTtcaggactaatacatctgga	15	12	7	7	0	5	1	2	1	3	0	5	3	5	3	0	3	1	0	0	3	5	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:196953134T>C	ENST00000256785.4	+	3	406	c.297T>C	c.(295-297)tcT>tcC	p.S99S	CFHR5_ENST00000367414.5_Silent_p.S123S			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	99	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATTCTGAATCTTCAGGACTAA	0.343																																																	0													99	88	92					1																	196953134		2203	4300	6503	SO:0001819	synonymous_variant	0			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"Complement system"	24668	protein-coding gene	gene with protein product	"factor H related protein 5"	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.297T>C	1.37:g.196953134T>C			Q2NKK2	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S123	ENST00000256785.4	37	c.369	CCDS1387.1	1																																																																																			CFHR5	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134389		0.343	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2		0	50	0	T	NM_030787		196953134	1			no_errors	ENST00000367414	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.037	C	C	196953134	T	C	196953134	2	2	95	1	0	0	0	0	0	0	0	1	3295	1596	56	4		4	CFHR5	1	196953134	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	195736	196953134	52297487	23	27202											
RNPEP	6051	genome.wustl.edu	37	chr1	201965370	201965370	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaacaggagagaagctttTtggaccttatgtttggggaa	11	11	14	5	0	0	1	0	0	0	1	0	5	0	4	1	5	2	3	1	5	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:201965370T>A	ENST00000295640.4	+	4	876	c.833T>A	c.(832-834)tTt>tAt	p.F278Y	RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	278					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAGAAGCTTTTTGGACCTTAT	0.488																																					GBM(19;39 479 7473 13131 19462)												0													289	268	275					1																	201965370		2203	4300	6503	SO:0001583	missense	0			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.833T>A	1.37:g.201965370T>A	ENSP00000295640:p.Phe278Tyr		Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.F278Y	ENST00000295640.4	37	c.833	CCDS1418.1	1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727113	0.30593	.	.	ENSG00000176393	ENST00000295640;ENST00000447312;ENST00000449524	T;T;T	0.07114	3.22;3.22;3.22	5.15	5.15	0.70609	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.11707	0.0285	L	0.38838	1.175	0.80722	D	1	P;P	0.41080	0.504;0.737	P;P	0.51415	0.557;0.669	T	0.03068	-1.1076	10	0.02654	T	1	-22.7271	13.9609	0.64177	0.0:0.0:0.0:1.0	.	286;278	Q7RU04;Q9H4A4	.;AMPB_HUMAN	Y	278;147;24	ENSP00000295640:F278Y;ENSP00000389602:F147Y;ENSP00000407614:F24Y	ENSP00000295640:F278Y	F	+	2	0	RNPEP	200231993	1.000000	0.71417	0.605000	0.28930	0.945000	0.59286	7.420000	0.80191	1.911000	0.55334	0.533000	0.62120	TTT	RNPEP	-	pfam_Peptidase_M1_N	ENSG00000176393		0.488	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1		0	69	0	T	NM_020216		201965370	1			no_errors	ENST00000295640	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A	A	201965370	T	A	201965370	3	1	95	1	0	0	0	0	1	0	0	0	13554	1841	64	5	847	5	RNPEP	1	201965370	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	5012236	201965370	47285251	24	27203											
PPP1R12B	4660	genome.wustl.edu	37	chr1	202549679	202549679	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagtcatcagcaaactGtccaagtaggctaggctcca	13	8	9	11	0	3	1	3	0	0	1	5	1	5	1	2	2	2	4	2	2	4	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:202549679G>T	ENST00000608999.1	+	24	3093	c.2940G>T	c.(2938-2940)ctG>ctT	p.L980L	PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Silent_p.L206L|PPP1R12B_ENST00000336894.4_Silent_p.L980L|PPP1R12B_ENST00000367270.4_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	980					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCAGCAAACTGTCCAAGTAGG	0.483																																																	0													84	77	79					1																	202549679		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	7619	protein-coding gene	gene with protein product	"myosin phosphatase regulatory subunit", "myosin phosphatase, target subunit 2"	603768	"protein phosphatase 1, regulatory (inhibitor) subunit 12B"	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2940G>T	1.37:g.202549679G>T			A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L980	ENST00000608999.1	37	c.2940	CCDS1426.1	1																																																																																			PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk	ENSG00000077157		0.483	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	-	0	35	0	G	NM_032105		202549679	1	tier1	-	no_errors	ENST00000336894	ensembl	human	known	74_37	silent	11.11	32	4	SNP	0.965	T	T	202549679	G	T	202549679	2	4	95	1	0	0	0	0	0	0	0	1	12397	1364	48	3		3	PPP1R12B	1	202549679	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	584309	202549679	46700942	25	27204											
ACTA1	58	genome.wustl.edu	37	chr1	229568159	229568159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttgtgggtgacgccgtcGccggagtccagcacgatgcc	6	7	15	13	6	0	1	0	1	0	0	2	3	1	2	4	2	2	2	4	2	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:229568159G>A	ENST00000366684.3	-	4	576	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	158					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				TGACGCCGTCGCCGGAGTCCA	0.711																																																	0													30	29	30					1																	229568159		2202	4298	6500	SO:0001819	synonymous_variant	0			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"nemaline myopathy type 3"	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.474C>T	1.37:g.229568159G>A			P02568|P99020|Q5T8M9	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.G158	ENST00000366684.3	37	c.474	CCDS1578.1	1																																																																																			ACTA1	-	pfam_Actin-related,smart_Actin-related,prints_Actin-related	ENSG00000143632		0.711	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1		0	57	0	G	NM_001100		229568159	-1			no_errors	ENST00000366684	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.707	A	A	229568159	G	A	229568159	2	1	95	1	0	0	0	0	0	0	0	1	191	1074	38	1		1	ACTA1	1	229568159	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	27018480	229568159	19682462	26	27205											
TRIM67	440730	genome.wustl.edu	37	chr1	231339687	231339687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacgctggcctggaggatgCcacccttcacccacagcccc	7	6	9	19	1	2	0	2	0	0	0	2	2	2	2	6	3	2	1	6	3	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:231339687C>T	ENST00000366653.5	+	6	1609	c.1609C>T	c.(1609-1611)Cca>Tca	p.P537S	TRIM67_ENST00000366652.2_Missense_Mutation_p.P537S|TRIM67_ENST00000449018.3_Missense_Mutation_p.P475S|TRIM67_ENST00000444294.3_Missense_Mutation_p.P535S			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	537	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTGGAGGATGCCACCCTTCAC	0.637																																																	0													49	61	57					1																	231339687		2117	4214	6331	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1609C>T	1.37:g.231339687C>T	ENSP00000355613:p.Pro537Ser		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.P537S	ENST00000366653.5	37	c.1609	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969291	0.74246	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.52	5.52	0.82312	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168879	0.53938	D	0.000060	T	0.59293	0.2183	M	0.83012	2.62	0.51767	D	0.99993	P	0.42871	0.792	B	0.42692	0.395	T	0.65590	-0.6131	10	0.52906	T	0.07	.	19.4229	0.94729	0.0:1.0:0.0:0.0	.	537	Q6ZTA4	TRI67_HUMAN	S	535;537;475;537	ENSP00000412124:P535S;ENSP00000355612:P537S;ENSP00000400163:P475S;ENSP00000355613:P537S	ENSP00000355612:P537S	P	+	1	0	TRIM67	229406310	1.000000	0.71417	0.987000	0.45799	0.935000	0.57460	3.119000	0.50422	2.584000	0.87258	0.555000	0.69702	CCA	TRIM67	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000119283		0.637	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3		0	72	0	C	NM_001004342		231339687	1			no_errors	ENST00000366652	ensembl	human	known	74_37	missense	5.83	97	6	SNP	1.000	T	T	231339687	C	T	231339687	3	4	95	1	0	0	0	0	1	0	0	0	16588	739	26	3	1631	3	TRIM67	1	231339687	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1771528	231339687	17910934	27	27206											
RYR2	6262	genome.wustl.edu	37	chr1	237777985	237777985	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagcccagtgtgtttaaaGaagctgccactccggaggag	10	9	13	9	1	0	2	0	1	0	1	1	4	1	4	3	2	3	2	3	2	3	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:237777985G>T	ENST00000366574.2	+	37	5874	c.5557G>T	c.(5557-5559)Gaa>Taa	p.E1853*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1851*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1837*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1853	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E1851K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGTTTAAAGAAGCTGCCAC	0.517																																																	1	Substitution - Missense(1)	lung(1)											55	58	57					1																	237777985		1993	4188	6181	SO:0001587	stop_gained	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5557G>T	1.37:g.237777985G>T	ENSP00000355533:p.Glu1853*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E1851*	ENST00000366574.2	37	c.5551	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	46	12.625829	0.99683	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.62	5.62	0.85841	.	0.184624	0.32719	N	0.005738	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	.	.	.	X	1853;1851;1837	.	ENSP00000353174:E1851X	E	+	1	0	RYR2	235844608	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.901000	0.87382	2.665000	0.90641	0.650000	0.86243	GAA	RYR2	-	NULL	ENSG00000198626		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0	17	0	G	NM_001035		237777985	1			no_errors	ENST00000360064	ensembl	human	known	74_37	nonsense	14.29	18	3	SNP	1.000	T	T	237777985	G	T	237777985	4	4	95	1	0	0	0	0	0	1	0	0	13814	943	33	3	5703	3	RYR2	1	237777985	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	6438298	237777985	11472636	28	27207											
FMN2	56776	genome.wustl.edu	37	chr1	240371436	240371436	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacccggagtgggcataccTcctccgccccctctacccgg	5	7	9	20	3	1	0	0	0	1	0	3	1	3	1	7	3	3	1	7	3	3	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:240371436T>C	ENST00000319653.9	+	5	3554	c.3324T>C	c.(3322-3324)ccT>ccC	p.P1108P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1108	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1251P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGGCATACCTCCTCCGCCCC	0.731																																																	1	Substitution - coding silent(1)	lung(1)											8	11	10					1																	240371436		2057	4147	6204	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3324T>C	1.37:g.240371436T>C			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.P1108	ENST00000319653.9	37	c.3324	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	62	0	T	XM_371352		240371436	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	8.26	100	9	SNP	0.075	C	C	240371436	T	C	240371436	2	2	95	1	0	0	0	0	0	0	0	1	5972	1538	54	4		4	FMN2	1	240371436	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	2593451	240371436	8879185	29	27208											
OR11L1	391189	genome.wustl.edu	37	chr1	248004654	248004654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagagctgcatgagtggcGggaggtcgcagaagaaatgg	12	5	19	5	2	0	4	0	1	0	3	1	6	0	5	0	5	2	3	0	5	2	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr1:248004654G>T	ENST00000355784.2	-	1	600	c.545C>A	c.(544-546)cCg>cAg	p.P182Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	182						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CATGAGTGGCGGGAGGTCGCA	0.502																																																	0													91	96	94					1																	248004654		2203	4300	6503	SO:0001583	missense	0			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"GPCR / Class A : Olfactory receptors"	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.545C>A	1.37:g.248004654G>T	ENSP00000348033:p.Pro182Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P182Q	ENST00000355784.2	37	c.545	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	3.566	-0.088654	0.07097	.	.	ENSG00000197591	ENST00000355784	T	0.00211	8.54	4.27	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002690	T	0.00241	0.0007	M	0.74647	2.275	0.19945	N	0.999945	B	0.23735	0.09	B	0.27262	0.078	T	0.31052	-0.9957	10	0.51188	T	0.08	.	8.7529	0.34629	0.0815:0.0:0.7688:0.1497	.	182	Q8NGX0	O11L1_HUMAN	Q	182	ENSP00000348033:P182Q	ENSP00000348033:P182Q	P	-	2	0	OR11L1	246071277	0.000000	0.05858	0.570000	0.28473	0.419000	0.31324	0.095000	0.15127	0.531000	0.28639	-0.324000	0.08512	CCG	OR11L1	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197591		0.502	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	HGNC	protein_coding	OTTHUMT00000096850.1		0	50	0	G	NM_001001959		248004654	-1			no_errors	ENST00000355784	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.298	T	T	248004654	G	T	248004654	3	4	95	1	0	0	0	0	1	0	0	0	10969	1116	39	2	427	2	OR11L1	1	248004654	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	7633218	248004654	1245967	30	27209											
APOB	338	genome.wustl.edu	37	chr2	21235441	21235441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgactgaatttgatattCgaatctagaaatttgtggcg	13	14	9	5	2	1	4	0	3	1	1	2	5	1	4	0	1	0	0	0	1	5	5	rs376103623		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:21235441C>T	ENST00000233242.1	-	26	4426	c.4299G>A	c.(4297-4299)tcG>tcA	p.S1433S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1433					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTGATATTCGAATCTAGAA	0.368													C|||	1	0.000199681	0	0	5008	,	,		21052	0		0	False		,,,				2504	0.001																0								C		0,4404		0,0,2202	84	89	87		4299	-1.6	0.7	2		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	APOB	NM_000384.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		1433/4564	21235441	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4299G>A	2.37:g.21235441C>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S1433	ENST00000233242.1	37	c.4299	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	52	0	C			21235441	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	39.29	34	22	SNP	0.602	T	T	21235441	C	T	21235441	2	4	95	1	0	0	0	0	0	0	0	1	785	871	31	1		1	APOB	2	21235441	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09		21235441	221963932	31	27210											
ASXL2	55252	genome.wustl.edu	37	chr2	25994382	25994382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatggtgggtgatgggCagcctgactgcggggaggac	7	7	20	7	1	0	2	0	2	0	0	0	5	0	5	1	7	2	1	1	7	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:25994382C>A	ENST00000435504.4	-	6	724	c.431G>T	c.(430-432)tGc>tTc	p.C144F	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.C116F|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	144	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGATGGGCAGCCTGACTG	0.438																																																	0													174	170	172					2																	25994382		2033	4184	6217	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.431G>T	2.37:g.25994382C>A	ENSP00000391447:p.Cys144Phe		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.C144F	ENST00000435504.4	37	c.431		2	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935560	0.52866	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.21543	2.0;2.0	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	L	0.47716	1.5	0.80722	D	1	P	0.45348	0.856	P	0.47786	0.557	T	0.03875	-1.0996	10	0.87932	D	0	-10.0933	15.5094	0.75769	0.0:0.8612:0.1388:0.0	.	144	Q76L83	ASXL2_HUMAN	F	144;116	ENSP00000391447:C144F;ENSP00000337250:C116F	ENSP00000337250:C116F	C	-	2	0	ASXL2	25847886	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.992000	0.70609	1.393000	0.46605	0.591000	0.81541	TGC	ASXL2	-	NULL	ENSG00000143970		0.438	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	-	0	63	0	C	NM_018263		25994382	-1	tier1	-	no_errors	ENST00000435504	ensembl	human	known	74_37	missense	16.00	84	16	SNP	1.000	A	A	25994382	C	A	25994382	3	1	95	1	0	0	0	0	1	0	0	0	1068	710	25	3	3908	3	ASXL2	2	25994382	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	4758941	25994382	217204991	32	27211											
SIX3	6496	genome.wustl.edu	37	chr2	45169387	45169387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcgcgggaggcggcagCggcggcgggaacggtgcggg	4	1	26	10	9	0	0	0	0	0	0	0	2	0	2	0	10	3	1	0	10	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:45169387C>T	ENST00000260653.3	+	1	486	c.144C>T	c.(142-144)agC>agT	p.S48S	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	48	Gly-rich. {ECO:0000255|PROSITE- ProRule:PRU00008}.				brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				gaggcggcagcggcggcggga	0.746																																																	0													11	11	11					2																	45169387		1593	3508	5101	SO:0001819	synonymous_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"Homeoboxes / SINE class"	10889	protein-coding gene	gene with protein product		603714	"holoprosencephaly 2, alobar or semilobar", "sine oculis homeobox homolog 3 (Drosophila)"	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.144C>T	2.37:g.45169387C>T			D6W5A5|Q53T42	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.S48	ENST00000260653.3	37	c.144	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.746	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1		0	22	0	C	NM_005413		45169387	1			no_errors	ENST00000260653	ensembl	human	known	74_37	silent	27.27	8	3	SNP	0.997	T	T	45169387	C	T	45169387	2	4	95	1	0	0	0	0	0	0	0	1	14393	767	27	1		1	SIX3	2	45169387	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	19175005	45169387	198029986	33	27212											
ETAA1	54465	genome.wustl.edu	37	chr2	67630382	67630382	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaaagtcaagaagaaGaacttatgaaactggctaaa	22	6	7	6	0	1	4	1	1	0	3	1	4	1	4	0	1	3	1	0	1	10	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:67630382G>T	ENST00000272342.5	+	5	698	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	190						cytoplasm (GO:0005737)		p.E190*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCAAGAAGAAGAACTTATGAA	0.264																																																	1	Substitution - Nonsense(1)	large_intestine(1)											24	29	27					2																	67630382		2133	4253	6386	SO:0001587	stop_gained	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"Ewing's tumor-associated antigen 1"			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.568G>T	2.37:g.67630382G>T	ENSP00000272342:p.Glu190*		Q05BT7|Q53SC4	Nonsense_Mutation	SNP	NULL	p.E190*	ENST00000272342.5	37	c.568	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.653235	0.97739	.	.	ENSG00000143971	ENST00000272342	.	.	.	6.16	6.16	0.99307	.	0.110694	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7163	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000272342:E190X	E	+	1	0	ETAA1	67483886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.096000	0.76960	2.937000	0.99478	0.650000	0.86243	GAA	ETAA1	-	NULL	ENSG00000143971		0.264	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0	60	0	G	NM_019002		67630382	1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T	T	67630382	G	T	67630382	4	4	95	1	0	0	0	0	0	1	0	0	5283	943	33	3	586	3	ETAA1	2	67630382	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	22460995	67630382	175568991	34	27213											
STAMBP	10617	genome.wustl.edu	37	chr2	74071986	74071986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgagattacaaatctgctGtcattcctgaaaagaaagac	16	10	7	8	1	2	4	1	1	1	3	4	5	3	4	1	0	2	1	1	0	5	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:74071986G>T	ENST00000394070.2	+	3	753	c.250G>T	c.(250-252)Gtc>Ttc	p.V84F	STAMBP_ENST00000409707.1_Missense_Mutation_p.V84F|STAMBP_ENST00000394073.1_Missense_Mutation_p.V84F|STAMBP_ENST00000536064.1_Missense_Mutation_p.V84F|STAMBP_ENST00000339566.3_Missense_Mutation_p.V84F	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	84	Interaction with CHMP3.				JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CAAATCTGCTGTCATTCCTGA	0.373																																																	0													75	70	71					2																	74071986		2203	4300	6503	SO:0001583	missense	0			BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.250G>T	2.37:g.74071986G>T	ENSP00000377633:p.Val84Phe		B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.V84F	ENST00000394070.2	37	c.250	CCDS1929.1	2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209102	0.39003	.	.	ENSG00000124356	ENST00000339566;ENST00000539933;ENST00000409707;ENST00000452725;ENST00000432295;ENST00000424659;ENST00000394073;ENST00000394070;ENST00000536064	T;T;T;T;T;T	0.45276	1.95;1.95;1.94;1.95;1.95;0.9	5.52	0.937	0.19494	.	0.553031	0.19319	N	0.117189	T	0.29061	0.0722	L	0.34521	1.04	0.33517	D	0.591916	B	0.24768	0.111	B	0.21546	0.035	T	0.24799	-1.0150	10	0.56958	D	0.05	-4.1637	8.5537	0.33467	0.5039:0.0:0.4961:0.0	.	84	O95630	STABP_HUMAN	F	84	ENSP00000344742:V84F;ENSP00000386548:V84F;ENSP00000413874:V84F;ENSP00000377636:V84F;ENSP00000377633:V84F;ENSP00000443502:V84F	ENSP00000344742:V84F	V	+	1	0	STAMBP	73925494	0.978000	0.34361	0.096000	0.21009	0.988000	0.76386	2.298000	0.43602	-0.013000	0.14199	0.650000	0.86243	GTC	STAMBP	-	NULL	ENSG00000124356		0.373	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBP	HGNC	protein_coding	OTTHUMT00000252048.2		0	57	0	G	NM_006463		74071986	1			no_errors	ENST00000339566	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.943	T	T	74071986	G	T	74071986	3	4	95	1	0	0	0	0	1	0	0	0	15297	1377	48	3	256	3	STAMBP	2	74071986	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	6441604	74071986	169127387	35	27214											
LRRTM1	347730	genome.wustl.edu	37	chr2	80529477	80529477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttcggtttgtaatcaaCgtagtattcctgggcagaca	9	13	12	7	2	1	1	1	0	0	1	3	1	2	1	1	3	1	6	1	3	4	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:80529477C>T	ENST00000295057.3	-	2	2124	c.1468G>A	c.(1468-1470)Gtt>Att	p.V490I	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V490I|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	490					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.V490I(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TTGTAATCAACGTAGTATTCC	0.552										HNSCC(69;0.2)																																							2	Substitution - Missense(2)	pancreas(2)											144	118	127					2																	80529477		2203	4300	6503	SO:0001583	missense	0			AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.1468G>A	2.37:g.80529477C>T	ENSP00000295057:p.Val490Ile		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V490I	ENST00000295057.3	37	c.1468	CCDS1966.1	2	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385717	0.61956	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.44881	0.91;0.91	4.99	4.99	0.66335	.	0.000000	0.64402	U	0.000004	T	0.46718	0.1407	L	0.52573	1.65	0.80722	D	1	D	0.64830	0.994	P	0.47786	0.557	T	0.42799	-0.9430	9	.	.	.	.	18.2542	0.90014	0.0:1.0:0.0:0.0	.	490	Q86UE6	LRRT1_HUMAN	I	490	ENSP00000295057:V490I;ENSP00000386646:V490I	.	V	-	1	0	LRRTM1	80382988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.067000	0.71193	2.276000	0.75962	0.561000	0.74099	GTT	LRRTM1	-	NULL	ENSG00000162951		0.552	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM1	HGNC	protein_coding	OTTHUMT00000313614.1	-	0	62	0	C	NM_178839		80529477	-1	tier1	-	no_errors	ENST00000295057	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	T	T	80529477	C	T	80529477	3	4	95	1	0	0	0	0	1	0	0	0	9074	536	19	1	104	1	LRRTM1	2	80529477	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	6457491	80529477	162669896	36	27215											
EIF5B	9669	genome.wustl.edu	37	chr2	99978108	99978108	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgagatgaagaaaaagcGaaactgcggaagctgaaaga	20	3	13	5	3	0	5	0	2	0	3	0	8	0	6	0	1	5	1	0	1	7	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:99978108G>T	ENST00000289371.6	+	4	946	c.744G>T	c.(742-744)gcG>gcT	p.A248A		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	248					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGAAAAAGCGAAACTGCGGA	0.388																																					Colon(162;2388 2567 2705 3444)												0													57	58	58					2																	99978108		1821	4081	5902	SO:0001819	synonymous_variant	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"translation initiation factor IF2"	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.744G>T	2.37:g.99978108G>T			O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.A248	ENST00000289371.6	37	c.744	CCDS42721.1	2																																																																																			EIF5B	-	NULL	ENSG00000158417		0.388	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2		0	36	0	G	NM_015904		99978108	1			no_errors	ENST00000289371	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.976	T	T	99978108	G	T	99978108	2	4	95	1	0	0	0	0	0	0	0	1	5060	1045	37	2		2	EIF5B	2	99978108	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	19448631	99978108	143221265	37	27216											
LRP1B	53353	genome.wustl.edu	37	chr2	141253199	141253199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccatctgtacagaggcacTtgtaagtcccgtatgtattg	10	12	9	10	1	1	1	0	0	1	1	2	1	2	1	2	1	1	5	2	1	4	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:141253199T>C	ENST00000389484.3	-	56	9940	c.8969A>G	c.(8968-8970)aAg>aGg	p.K2990R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2990	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGAGGCACTTGTAAGTCCC	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													203	181	189					2																	141253199		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8969A>G	2.37:g.141253199T>C	ENSP00000374135:p.Lys2990Arg		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K2990R	ENST00000389484.3	37	c.8969	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742539	0.30865	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87491	-2.26	5.83	3.44	0.39384	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.063176	0.64402	D	0.000008	T	0.69860	0.3158	N	0.04260	-0.245	0.38246	D	0.941464	B	0.02656	0.0	B	0.06405	0.002	T	0.59284	-0.7483	10	0.19147	T	0.46	.	9.7523	0.40483	0.0:0.1446:0.0:0.8554	.	2990	Q9NZR2	LRP1B_HUMAN	R	2990;2928	ENSP00000374135:K2990R	ENSP00000374135:K2990R	K	-	2	0	LRP1B	140969669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.821000	0.48065	0.468000	0.27243	0.477000	0.44152	AAG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000168702		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	68	0	T	NM_018557		141253199	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	24.39	31	10	SNP	1.000	C	C	141253199	T	C	141253199	3	2	95	1	0	0	0	0	1	0	0	0	8990	1609	56	4	4974	4	LRP1B	2	141253199	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	41275091	141253199	101946174	38	27217											
STAM2	10254	genome.wustl.edu	37	chr2	152977200	152977200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtagtgttctgataaGatgacatatccacagacatc	14	11	9	7	0	1	4	0	2	1	2	3	5	2	5	1	1	0	2	1	1	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:152977200G>T	ENST00000263904.4	-	14	1815	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	489					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		GTTCTGATAAGATGACATATC	0.453																																																	0													183	153	163					2																	152977200		2203	4300	6503	SO:0001583	missense	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1466C>A	2.37:g.152977200G>T	ENSP00000263904:p.Ser489Tyr		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.S489Y	ENST00000263904.4	37	c.1466	CCDS2196.1	2	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846502	0.51164	.	.	ENSG00000115145	ENST00000263904	T	0.18016	2.24	5.71	3.91	0.45181	.	0.426572	0.25283	N	0.031800	T	0.13072	0.0317	N	0.24115	0.695	0.37831	D	0.928737	B	0.18310	0.027	B	0.28385	0.089	T	0.09487	-1.0672	10	0.41790	T	0.15	-12.6982	10.5423	0.45039	0.0693:0.0:0.7969:0.1338	.	489	O75886	STAM2_HUMAN	Y	489	ENSP00000263904:S489Y	ENSP00000263904:S489Y	S	-	2	0	STAM2	152685446	1.000000	0.71417	0.911000	0.35937	0.965000	0.64279	5.316000	0.65815	0.755000	0.32990	-0.169000	0.13324	TCT	STAM2	-	NULL	ENSG00000115145		0.453	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2		0	72	0	G	NM_005843		152977200	-1			no_errors	ENST00000263904	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	152977200	G	T	152977200	3	4	95	1	0	0	0	0	1	0	0	0	15296	942	33	3	115	3	STAM2	2	152977200	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	11724001	152977200	90222173	39	27218											
STAM2	10254	genome.wustl.edu	37	chr2	153000481	153000481	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggatataaggatttTgtttctgtgtgttgctgttt	8	19	12	2	0	1	1	0	0	1	1	1	4	1	3	0	2	1	4	0	2	3	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:153000481T>A	ENST00000263904.4	-	7	913	c.564A>T	c.(562-564)acA>acT	p.T188T	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	188					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ATAAGGATTTTGTTTCTGTGT	0.303																																																	0													119	114	116					2																	153000481		2203	4299	6502	SO:0001819	synonymous_variant	0			AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"HSE1 homolog (S. cerevisiae)"	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.564A>T	2.37:g.153000481T>A			A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Silent	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.T188	ENST00000263904.4	37	c.564	CCDS2196.1	2																																																																																			STAM2	-	superfamily_SH3_domain	ENSG00000115145		0.303	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM2	HGNC	protein_coding	OTTHUMT00000254835.2	-	0	52	0	T	NM_005843		153000481	-1	tier1	-	no_errors	ENST00000263904	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.999	A	A	153000481	T	A	153000481	2	1	95	1	0	0	0	0	0	0	0	1	15296	1799	63	5		5	STAM2	2	153000481	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	23281	153000481	90198892	40	27219											
BAZ2B	29994	genome.wustl.edu	37	chr2	160205671	160205671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgaattaccatttccttCtgataaccctaaccccgatc	12	12	4	13	1	1	2	0	2	1	0	3	4	2	2	5	0	3	0	5	0	5	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:160205671C>T	ENST00000392783.2	-	29	5479	c.4984G>A	c.(4984-4986)Gaa>Aaa	p.E1662K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1626K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1628K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1562K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCATTTCCTTCTGATAACCCT	0.428																																																	0													143	132	135					2																	160205671		1888	4118	6006	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"Zinc fingers, PHD-type"	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4984G>A	2.37:g.160205671C>T	ENSP00000376534:p.Glu1662Lys		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1662K	ENST00000392783.2	37	c.4984	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581636	0.46006	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.59638	0.29;0.29;0.29;0.25	5.47	5.47	0.80525	.	0.000000	0.38058	U	0.001839	T	0.59569	0.2203	L	0.57536	1.79	0.50313	D	0.999862	P;P	0.52842	0.827;0.956	B;B	0.44133	0.442;0.275	T	0.59295	-0.7481	10	0.33940	T	0.23	-18.9064	19.6762	0.95934	0.0:1.0:0.0:0.0	.	1626;1662	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1626;1662;1628;1562	ENSP00000376533:E1626K;ENSP00000376534:E1662K;ENSP00000348087:E1628K;ENSP00000339670:E1562K	ENSP00000339670:E1562K	E	-	1	0	BAZ2B	159913917	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.317000	0.65822	2.729000	0.93468	0.591000	0.81541	GAA	BAZ2B	-	NULL	ENSG00000123636		0.428	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	-	0	23	0	C			160205671	-1	tier1	-	no_errors	ENST00000392783	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	T	T	160205671	C	T	160205671	3	4	95	1	0	0	0	0	1	0	0	0	1333	922	32	3	1558	3	BAZ2B	2	160205671	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	7205190	160205671	82993702	41	27220											
DPP4	1803	genome.wustl.edu	37	chr2	162881326	162881326	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtctcaccactaagcagttCcatcttccactggattcatc	10	12	5	14	0	3	0	2	0	2	0	7	1	5	1	3	1	1	2	3	1	1	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:162881326C>T	ENST00000360534.3	-	11	1571	c.1011G>A	c.(1009-1011)tgG>tgA	p.W337*		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	337					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CTAAGCAGTTCCATCTTCCAC	0.468																																																	0													224	200	208					2																	162881326		2203	4300	6503	SO:0001587	stop_gained	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"CD molecules"	3009	protein-coding gene	gene with protein product		102720	"dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)", "adenosine deaminase complexing protein 2"	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1011G>A	2.37:g.162881326C>T	ENSP00000353731:p.Trp337*		Q53TN1	Nonsense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.W337*	ENST00000360534.3	37	c.1011	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	44	10.895569	0.99484	.	.	ENSG00000197635	ENST00000360534	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.1528	17.0959	0.86635	0.0:1.0:0.0:0.0	.	.	.	.	X	337	.	ENSP00000353731:W337X	W	-	3	0	DPP4	162589572	0.993000	0.37304	0.784000	0.31847	0.951000	0.60555	3.400000	0.52594	2.563000	0.86464	0.655000	0.94253	TGG	DPP4	-	pfam_Peptidase_S9B	ENSG00000197635		0.468	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2		0	47	0	C			162881326	-1			no_errors	ENST00000360534	ensembl	human	known	74_37	nonsense	5.26	36	2	SNP	0.994	T	T	162881326	C	T	162881326	4	4	95	1	0	0	0	0	0	1	0	0	4743	856	30	3	1353	3	DPP4	2	162881326	Nonsense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2675655	162881326	80318047	42	27221											
XIRP2	129446	genome.wustl.edu	37	chr2	168115788	168115788	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtacagctaagccttTgtttcccagagtggaggtgc	9	12	12	8	0	0	2	0	1	0	1	1	3	1	3	2	2	4	3	2	2	3	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:168115788T>A	ENST00000409728.1	+	11	2920	c.2831T>A	c.(2830-2832)tTg>tAg	p.L944*	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Nonsense_Mutation_p.L911*|XIRP2_ENST00000409605.1_Nonsense_Mutation_p.L689*|XIRP2_ENST00000420519.1_Nonsense_Mutation_p.L944*|XIRP2_ENST00000409043.1_Nonsense_Mutation_p.L911*|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTAAGCCTTTGTTTCCCAGA	0.438																																																	0													83	78	79					2																	168115788		1931	4147	6078	SO:0001587	stop_gained	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2831T>A	2.37:g.168115788T>A	ENSP00000386619:p.Leu944*		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L944*	ENST00000409728.1	37	c.2831	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836701	0.91117	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	.	.	.	5.91	-7.17	0.01511	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8272	0.18560	0.0872:0.3023:0.0861:0.5244	.	.	.	.	X	911;944;911;944;689	.	ENSP00000386454:L911X	L	+	2	0	XIRP2	167824034	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.248000	0.08854	-1.316000	0.02295	-1.964000	0.00472	TTG	XIRP2	-	NULL	ENSG00000163092		0.438	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1		0	31	0	T	NM_152381		168115788	1			no_errors	ENST00000420519	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	0.000	A	A	168115788	T	A	168115788	4	1	95	1	0	0	0	0	0	1	0	0	17479	1821	63	5	12149	5	XIRP2	2	168115788	Nonsense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	5234462	168115788	75083585	43	27222											
ABCB11	8647	genome.wustl.edu	37	chr2	169869892	169869892	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttcttgtaactcaacgtcGtagtcaataaaaacatctgt	14	13	6	8	2	4	0	2	0	2	0	5	0	4	0	0	0	3	3	0	0	7	5	rs375137002		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:169869892G>T	ENST00000263817.6	-	5	403	c.279C>A	c.(277-279)taC>taA	p.Y93*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	93	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACTCAACGTCGTAGTCAATAA	0.428																																																	0													208	197	200					2																	169869892		1894	4139	6033	SO:0001587	stop_gained	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.279C>A	2.37:g.169869892G>T	ENSP00000263817:p.Tyr93*		Q53TL2|Q9UNB2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Y93*	ENST00000263817.6	37	c.279	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906665	0.72868	.	.	ENSG00000073734	ENST00000263817	.	.	.	5.41	3.02	0.34903	.	0.055478	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.051	0.42216	0.8618:0.0:0.1382:0.0	.	.	.	.	X	93	.	ENSP00000263817:Y93X	Y	-	3	2	ABCB11	169578138	0.992000	0.36948	0.724000	0.30704	0.279000	0.26890	0.499000	0.22546	0.344000	0.23847	-1.472000	0.01007	TAC	ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000073734		0.428	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	-	0	37	0	G	NM_003742		169869892	-1	tier1	-	no_errors	ENST00000263817	ensembl	human	known	74_37	nonsense	34.62	17	9	SNP	1.000	T	T	169869892	G	T	169869892	4	4	95	1	0	0	0	0	0	1	0	0	42	1140	40	2	3782	2	ABCB11	2	169869892	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1754104	169869892	73329481	44	27223											
MTX2	10651	genome.wustl.edu	37	chr2	177194108	177194108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaaacagtgggaagtcaAacgtaagatgaaagctattg	18	8	10	5	1	2	2	2	1	0	1	2	3	2	3	0	1	3	2	0	1	7	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:177194108A>G	ENST00000249442.6	+	8	708	c.497A>G	c.(496-498)aAa>aGa	p.K166R	MTX2_ENST00000392529.2_Missense_Mutation_p.K156R|MTX2_ENST00000443241.1_Missense_Mutation_p.K110R	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	166					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGGAAGTCAAACGTAAGATG	0.388																																																	0													108	107	107					2																	177194108		2203	4300	6503	SO:0001583	missense	0			AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.497A>G	2.37:g.177194108A>G	ENSP00000249442:p.Lys166Arg		A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Missense_Mutation	SNP	pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.K166R	ENST00000249442.6	37	c.497	CCDS2272.1	2	.	.	.	.	.	.	.	.	.	.	A	4.379	0.069860	0.08436	.	.	ENSG00000128654	ENST00000249442;ENST00000392529;ENST00000443241;ENST00000452865	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.05	3.89	0.44902	Glutathione S-transferase, C-terminal-like (1);	0.281581	0.38058	N	0.001824	T	0.13457	0.0326	N	0.01219	-0.95	0.33061	D	0.534137	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16217	-1.0410	10	0.11485	T	0.65	-7.0566	7.2687	0.26244	0.773:0.0:0.227:0.0	.	166;156	O75431;Q8IZ68	MTX2_HUMAN;.	R	166;156;110;143	ENSP00000249442:K166R;ENSP00000376314:K156R;ENSP00000414176:K110R;ENSP00000398757:K143R	ENSP00000249442:K166R	K	+	2	0	MTX2	176902354	1.000000	0.71417	0.901000	0.35422	0.587000	0.36485	4.478000	0.60230	0.757000	0.33036	0.455000	0.32223	AAA	MTX2	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000128654		0.388	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTX2	HGNC	protein_coding	OTTHUMT00000255695.4	-	0	57	0	A	NM_006554		177194108	1	tier1	-	no_errors	ENST00000249442	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.940	G	G	177194108	A	G	177194108	3	3	95	1	0	0	0	0	1	0	0	0	10006	14	1	4	527	4	MTX2	2	177194108	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	7324216	177194108	66005265	45	27224											
TTN	7273	genome.wustl.edu	37	chr2	179397111	179397111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgccgttccctcagttctGcataacttgtactagcttca	8	14	6	13	1	3	0	2	0	1	0	4	0	4	0	2	0	5	5	2	0	3	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179397111G>T	ENST00000591111.1	-	308	99532	c.99308C>A	c.(99307-99309)gCa>gAa	p.A33103E	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A25804E|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A25679E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A32176E|TTN_ENST00000589042.1_Missense_Mutation_p.A34744E|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A25871E|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33103					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCAGTTCTGCATAACTTGT	0.493																																																	0													200	188	192					2																	179397111		2033	4191	6224	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99308C>A	2.37:g.179397111G>T	ENSP00000465570:p.Ala33103Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A32176E	ENST00000591111.1	37	c.96527		2	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590371	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62639	0.01;0.25;0.23;0.22	5.93	3.89	0.44902	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.41604	0.1166	N	0.08118	0	0.33452	D	0.583808	B;B;B;B	0.27559	0.1;0.1;0.1;0.181	B;B;B;B	0.24006	0.05;0.05;0.05;0.05	T	0.55101	-0.8193	9	0.87932	D	0	.	11.6307	0.51173	0.0772:0.1303:0.7926:0.0	.	25679;25804;25871;33103	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	32176;25679;25871;25804;25676	ENSP00000343764:A32176E;ENSP00000434586:A25679E;ENSP00000340554:A25871E;ENSP00000352154:A25804E	ENSP00000340554:A25871E	A	-	2	0	TTN	179105357	1.000000	0.71417	0.694000	0.30210	0.804000	0.45430	3.983000	0.56916	2.808000	0.96608	0.655000	0.94253	GCA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	67	0	G	NM_133378		179397111	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.930	T	T	179397111	G	T	179397111	3	4	95	1	0	0	0	0	1	0	0	0	16784	1319	46	3	3768	3	TTN	2	179397111	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2203003	179397111	63802262	46	27225											
TTN	7273	genome.wustl.edu	37	chr2	179424743	179424743	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattgtatattctgtccctcGtaagctctgaatggaagttt	9	17	8	7	1	2	1	0	1	2	0	4	2	3	2	1	1	1	4	1	1	6	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179424743G>T	ENST00000591111.1	-	276	81417	c.81193C>A	c.(81193-81195)Cga>Aga	p.R27065R	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.R19766R|TTN_ENST00000460472.2_Silent_p.R19641R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R26138R|TTN_ENST00000589042.1_Silent_p.R28706R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.R19833R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27065	Fibronectin type-III 97. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGTCCCTCGTAAGCTCTGA	0.423																																																	0													73	69	70					2																	179424743		1861	4089	5950	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81193C>A	2.37:g.179424743G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R26138	ENST00000591111.1	37	c.78412		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	24	0	G	NM_133378		179424743	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.52	19	2	SNP	0.998	T	T	179424743	G	T	179424743	2	4	95	1	0	0	0	0	0	0	0	1	16784	1153	40	2		2	TTN	2	179424743	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	27632	179424743	63774630	47	27226											
TTN	7273	genome.wustl.edu	37	chr2	179476867	179476867	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcacatcaaccactgccagGgcgtagggtggtccaggagt	9	7	14	11	1	2	0	2	0	0	0	3	1	3	1	3	4	2	1	3	4	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179476867G>T	ENST00000591111.1	-	217	45572	c.45348C>A	c.(45346-45348)gcC>gcA	p.A15116A	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.A7817A|TTN_ENST00000460472.2_Silent_p.A7692A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A14189A|TTN_ENST00000589042.1_Silent_p.A16757A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.A7884A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15116	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACTGCCAGGGCGTAGGGTG	0.413																																																	0													79	71	74					2																	179476867		1877	4097	5974	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45348C>A	2.37:g.179476867G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A14189	ENST00000591111.1	37	c.42567		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	71	0	G	NM_133378		179476867	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.819	T	T	179476867	G	T	179476867	2	4	95	1	0	0	0	0	0	0	0	1	16784	1219	43	3		3	TTN	2	179476867	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	52124	179476867	63722506	48	27227											
TTN	7273	genome.wustl.edu	37	chr2	179588783	179588783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaataggtgatgatccaGctactttgcattccaagatg	12	12	9	8	0	0	4	0	3	0	1	2	4	2	4	2	1	3	2	2	1	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:179588783G>T	ENST00000591111.1	-	71	20476	c.20252C>A	c.(20251-20253)gCt>gAt	p.A6751D	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A5824D|TTN_ENST00000589042.1_Missense_Mutation_p.A7068D|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12374	Ig-like 49.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGATCCAGCTACTTTGCA	0.438																																																	0													88	81	83					2																	179588783		1917	4119	6036	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20252C>A	2.37:g.179588783G>T	ENSP00000465570:p.Ala6751Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A5824D	ENST00000591111.1	37	c.17471		2	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278473	0.59758	.	.	ENSG00000155657	ENST00000342992	T	0.67345	-0.26	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64616	0.2614	L	0.33753	1.03	0.80722	D	1	B	0.31459	0.324	B	0.37091	0.241	T	0.64618	-0.6365	9	0.87932	D	0	.	20.3248	0.98698	0.0:0.0:1.0:0.0	.	6751	Q8WZ42	TITIN_HUMAN	D	5824	ENSP00000343764:A5824D	ENSP00000343764:A5824D	A	-	2	0	TTN	179297028	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	5.567000	0.67378	2.818000	0.97014	0.655000	0.94253	GCT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	20	0	G	NM_133378		179588783	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.998	T	T	179588783	G	T	179588783	3	4	95	1	0	0	0	0	1	0	0	0	16784	971	34	3	83486	3	TTN	2	179588783	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	111916	179588783	63610590	49	27228											
CWC22	57703	genome.wustl.edu	37	chr2	180809975	180809975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggcaccattttgatatcTatcttcatcacttcttgagc	8	16	5	12	1	5	2	2	2	3	0	6	2	5	2	1	1	1	1	1	1	2	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:180809975T>C	ENST00000410053.3	-	20	2907	c.2608A>G	c.(2608-2610)Aga>Gga	p.R870G	CWC22_ENST00000295749.6_Missense_Mutation_p.R870G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	870					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.R870*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTTTGATATCTATCTTCATCA	0.378																																																	1	Substitution - Nonsense(1)	endometrium(1)											170	150	157					2																	180809975		1837	4092	5929	SO:0001583	missense	0				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"functional spliceosome-associated protein b"	615186	"CWC22 spliceosome-associated protein homolog (S. cerevisiae)"			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2608A>G	2.37:g.180809975T>C	ENSP00000387006:p.Arg870Gly		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.R870G	ENST00000410053.3	37	c.2608	CCDS46465.1	2	.	.	.	.	.	.	.	.	.	.	T	6.605	0.479998	0.12581	.	.	ENSG00000163510	ENST00000410053;ENST00000295749	T;T	0.18810	2.19;2.19	5.23	2.58	0.30949	.	0.259771	0.38217	N	0.001770	T	0.17789	0.0427	L	0.58101	1.795	0.22562	N	0.998989	B	0.27498	0.18	B	0.21917	0.037	T	0.20874	-1.0262	10	0.72032	D	0.01	-10.3762	5.0416	0.14462	0.0:0.0982:0.37:0.5317	.	870	Q9HCG8	CWC22_HUMAN	G	870	ENSP00000387006:R870G;ENSP00000295749:R870G	ENSP00000295749:R870G	R	-	1	2	CWC22	180518220	0.001000	0.12720	0.466000	0.27168	0.283000	0.27025	0.095000	0.15127	0.887000	0.36136	0.533000	0.62120	AGA	CWC22	-	NULL	ENSG00000163510		0.378	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CWC22	HGNC	protein_coding	OTTHUMT00000334537.1	-	0	68	0	T	NM_020943		180809975	-1	tier1	-	no_errors	ENST00000295749	ensembl	human	known	74_37	missense	57.14	18	24	SNP	0.008	C	C	180809975	T	C	180809975	3	2	95	1	0	0	0	0	1	0	0	0	4077	1530	53	4	122	4	CWC22	2	180809975	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	1221192	180809975	62389398	50	27229											
PPP1R1C	151242	genome.wustl.edu	37	chr2	182928463	182928463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttctccacagttacaGaatgcatcccctaagcaaag	12	11	5	13	0	2	1	0	0	2	1	5	1	3	1	3	0	3	3	3	0	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:182928463G>T	ENST00000409137.3	+	4	429	c.186G>T	c.(184-186)caG>caT	p.Q62H	PPP1R1C_ENST00000280295.3_Missense_Mutation_p.Q69H|PPP1R1C_ENST00000475249.1_3'UTR|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.Q62H|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.Q62H	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	62					cell cycle (GO:0007049)|cell division (GO:0051301)|negative regulation of catalytic activity (GO:0043086)|positive regulation of cell growth (GO:0030307)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CACAGTTACAGAATGCATCCC	0.418																																																	0													183	172	176					2																	182928463		1889	4118	6007	SO:0001583	missense	0			AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14940	protein-coding gene	gene with protein product		613240				11948623	Standard	NM_001261424		Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000409137.3:c.186G>T	2.37:g.182928463G>T	ENSP00000386359:p.Gln62His		Q5HYJ5|Q8TD54	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.Q62H	ENST00000409137.3	37	c.186	CCDS46468.1	2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.674272	0.47781	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.35	4.47	0.54385	.	0.165248	0.40728	N	0.001040	T	0.43233	0.1238	L	0.54323	1.7	0.36421	D	0.864295	D;D	0.76494	0.999;0.996	D;D	0.85130	0.997;0.995	T	0.48269	-0.9050	10	0.07990	T	0.79	.	9.9342	0.41541	0.0941:0.0:0.9059:0.0	.	69;62	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	H	62;62;69;62	ENSP00000399602:Q62H;ENSP00000386359:Q62H;ENSP00000280295:Q69H;ENSP00000386778:Q62H	ENSP00000280295:Q69H	Q	+	3	2	PPP1R1C	182636708	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.487000	0.53222	1.254000	0.44035	0.650000	0.86243	CAG	PPP1R1C	-	pfam_PPI_1DARPP-32	ENSG00000150722		0.418	PPP1R1C-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1C	HGNC	protein_coding	OTTHUMT00000334874.1		0	63	0	G	NM_001080545		182928463	1			no_errors	ENST00000409137	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	182928463	G	T	182928463	3	4	95	1	0	0	0	0	1	0	0	0	12411	933	33	3	200	3	PPP1R1C	2	182928463	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2118488	182928463	60270910	51	27230											
ZNF804A	91752	genome.wustl.edu	37	chr2	185801997	185801997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaatggaagcagagaataGttacactgaaaatgctggga	18	7	11	5	0	0	2	0	1	0	1	0	5	0	4	0	2	3	3	0	2	8	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:185801997G>T	ENST00000302277.6	+	4	2468	c.1874G>T	c.(1873-1875)aGt>aTt	p.S625I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	625							metal ion binding (GO:0046872)	p.S625T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCAGAGAATAGTTACACTGAA	0.328																																																	1	Substitution - Missense(1)	lung(1)											94	103	100					2																	185801997		2203	4298	6501	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1874G>T	2.37:g.185801997G>T	ENSP00000303252:p.Ser625Ile		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S625I	ENST00000302277.6	37	c.1874	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	G	2.277	-0.365565	0.05069	.	.	ENSG00000170396	ENST00000302277	T	0.06449	3.3	5.51	-3.94	0.04130	.	0.602886	0.15897	N	0.239263	T	0.04318	0.0119	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32771	-0.9894	10	0.51188	T	0.08	-0.0492	2.5258	0.04691	0.3086:0.2918:0.302:0.0976	.	625	Q7Z570	Z804A_HUMAN	I	625	ENSP00000303252:S625I	ENSP00000303252:S625I	S	+	2	0	ZNF804A	185510242	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	0.160000	0.16462	-0.537000	0.06290	-0.962000	0.02626	AGT	ZNF804A	-	NULL	ENSG00000170396		0.328	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0	55	0	G	NM_194250		185801997	1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.000	T	T	185801997	G	T	185801997	3	4	95	1	0	0	0	0	1	0	0	0	18218	1029	36	3	1888	3	ZNF804A	2	185801997	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2873534	185801997	57397376	52	27231											
SLC39A10	57181	genome.wustl.edu	37	chr2	196548620	196548620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgaagatgaggcaaatatAggggcatcaggtaagagaga	16	6	14	5	0	1	5	1	2	0	3	1	6	1	5	1	4	0	3	1	4	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:196548620A>G	ENST00000409086.3	+	3	1481	c.1206A>G	c.(1204-1206)atA>atG	p.I402M	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.I402M	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	402					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGGCAAATATAGGGGCATCAG	0.299																																																	0													52	56	55					2																	196548620		2203	4299	6502	SO:0001583	missense	0				CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"Solute carriers"	20861	protein-coding gene	gene with protein product		608733	"solute carrier family 39 (metal ion transporter), member 10"			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1206A>G	2.37:g.196548620A>G	ENSP00000386766:p.Ile402Met		A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	pfam_ZIP	p.I402M	ENST00000409086.3	37	c.1206	CCDS33353.1	2	.	.	.	.	.	.	.	.	.	.	A	11.14	1.551670	0.27739	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.64991	-0.13;-0.13	4.86	-1.0	0.10196	.	1.130750	0.06309	N	0.702303	T	0.43545	0.1252	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.14392	-1.0474	10	0.36615	T	0.2	.	5.723	0.17998	0.4308:0.2722:0.0:0.297	.	402	Q9ULF5	S39AA_HUMAN	M	402	ENSP00000386766:I402M;ENSP00000352655:I402M	ENSP00000352655:I402M	I	+	3	3	SLC39A10	196256865	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	1.189000	0.32114	-0.314000	0.08716	0.477000	0.44152	ATA	SLC39A10	-	NULL	ENSG00000196950		0.299	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A10	HGNC	protein_coding	OTTHUMT00000335186.1	-	0	52	0	A	XM_047707		196548620	1	tier1	-	no_errors	ENST00000359634	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.996	G	G	196548620	A	G	196548620	3	3	95	1	0	0	0	0	1	0	0	0	14658	410	15	4	1212	4	SLC39A10	2	196548620	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	10746623	196548620	46650753	53	27232											
GTF3C3	9330	genome.wustl.edu	37	chr2	197645322	197645322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgtacaaggcagacCatcaacttcactgtgatatc	13	11	8	9	0	2	3	2	2	0	2	3	4	2	3	1	1	2	2	1	1	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:197645322C>T	ENST00000263956.3	-	9	1268	c.1179G>A	c.(1177-1179)atG>atA	p.M393I	GTF3C3_ENST00000409364.3_Missense_Mutation_p.M393I	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	393					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAAGGCAGACCATCAACTTCA	0.398																																																	0													174	146	156					2																	197645322		2203	4300	6503	SO:0001583	missense	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"General transcription factors", "Tetratricopeptide (TTC) repeat domain containing"	4666	protein-coding gene	gene with protein product		604888	"general transcription factor IIIC, polypeptide 3 (102kD)"			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1179G>A	2.37:g.197645322C>T	ENSP00000263956:p.Met393Ile		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.M393I	ENST00000263956.3	37	c.1179	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433772	0.25813	.	.	ENSG00000119041	ENST00000263956;ENST00000448087;ENST00000409364	T;T	0.40476	1.05;1.03	5.41	5.41	0.78517	Tetratricopeptide-like helical (1);	0.093048	0.64402	D	0.000001	T	0.30792	0.0776	N	0.12182	0.205	0.46149	D	0.998899	B;B	0.10296	0.003;0.003	B;B	0.12156	0.007;0.001	T	0.07158	-1.0787	10	0.51188	T	0.08	-23.8624	19.3887	0.94570	0.0:1.0:0.0:0.0	.	393;393	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	I	393;78;393	ENSP00000263956:M393I;ENSP00000386465:M393I	ENSP00000263956:M393I	M	-	3	0	GTF3C3	197353567	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.033000	0.49743	2.826000	0.97356	0.655000	0.94253	ATG	GTF3C3	-	NULL	ENSG00000119041		0.398	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	-	0	45	0	C			197645322	-1	tier1	-	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	T	T	197645322	C	T	197645322	3	4	95	1	0	0	0	0	1	0	0	0	6901	594	21	3	1521	3	GTF3C3	2	197645322	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1096702	197645322	45554051	54	27233											
BMPR2	659	genome.wustl.edu	37	chr2	203383581	203383581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatggagcagtatataaaGgctccttggatgagcgtcca	12	10	12	7	1	0	1	0	1	0	0	2	4	2	3	2	3	2	3	2	3	5	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:203383581G>A	ENST00000374580.4	+	6	1197	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	BMPR2_ENST00000374574.2_Missense_Mutation_p.G220S	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AGTATATAAAGGCTCCTTGGA	0.368																																																	0													95	88	90					2																	203383581		2203	4300	6503	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.658G>A	2.37:g.203383581G>A	ENSP00000363708:p.Gly220Ser		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G220S	ENST00000374580.4	37	c.658	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.781462	0.96929	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.94723	-3.5;-3.5	6.05	6.05	0.98169	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97779	0.9271	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.986;0.996	D	0.97710	1.0190	10	0.72032	D	0.01	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	220;220	Q13161;Q13873	.;BMPR2_HUMAN	S	220	ENSP00000363708:G220S;ENSP00000363702:G220S	ENSP00000363702:G220S	G	+	1	0	BMPR2	203091826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.789000	0.99068	2.878000	0.98634	0.650000	0.86243	GGC	BMPR2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000204217		0.368	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	-	0	65	0	G	NM_001204		203383581	1	tier1	-	no_errors	ENST00000374580	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	A	A	203383581	G	A	203383581	3	1	95	1	0	0	0	0	1	0	0	0	1473	1000	35	3	680	3	BMPR2	2	203383581	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5738259	203383581	39815792	55	27234											
NBEAL1	65065	genome.wustl.edu	37	chr2	204039885	204039885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagatatgaaaattttgaGgatcctatgggaactattga	15	12	9	5	0	0	4	0	3	0	1	1	6	1	6	1	2	1	0	1	2	6	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:204039885G>T	ENST00000449802.1	+	41	6585	c.6252G>T	c.(6250-6252)gaG>gaT	p.E2084D		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2084	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAAATTTTGAGGATCCTATGG	0.353																																																	0													73	73	73					2																	204039885		1804	4064	5868	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6252G>T	2.37:g.204039885G>T	ENSP00000399903:p.Glu2084Asp		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2084D	ENST00000449802.1	37	c.6252	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744993	0.69418	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.80566	-1.39;-1.39	5.92	4.11	0.48088	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.84174	0.5414	L	0.51422	1.61	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.80395	-0.1400	10	0.28530	T	0.3	.	8.9828	0.35974	0.2292:0.0:0.7708:0.0	.	2084;2073	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	D	2084;2084;99	ENSP00000399903:E2084D;ENSP00000388466:E99D	ENSP00000344985:E2084D	E	+	3	2	NBEAL1	203748130	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.259000	0.32956	0.806000	0.34183	0.650000	0.86243	GAG	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000144426		0.353	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	-	0	93	0	G			204039885	1	tier1	-	no_errors	ENST00000449802	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	204039885	G	T	204039885	3	4	95	1	0	0	0	0	1	0	0	0	10226	991	35	3	6410	3	NBEAL1	2	204039885	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	656304	204039885	39159488	56	27235											
MDH1B	130752	genome.wustl.edu	37	chr2	207629974	207629974	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggacgcggggatcactcacCcgcgatgacgaatttggcca	9	6	13	13	6	2	1	2	1	0	0	2	5	2	3	2	4	0	0	2	4	1	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:207629974C>T	ENST00000374412.3	-	1	297	c.22G>A	c.(22-24)Ggt>Agt	p.G8S	MDH1B_ENST00000392214.2_Splice_Site_p.G8S|MDH1B_ENST00000449792.1_5'UTR|FASTKD2_ENST00000403094.3_5'Flank|FASTKD2_ENST00000236980.6_5'Flank|MDH1B_ENST00000454776.2_Splice_Site_p.G8S|FASTKD2_ENST00000402774.3_5'Flank	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	8					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GATCACTCACCCGCGATGACG	0.647																																					Pancreas(76;29 1355 28675 37177 51207)												0													56	60	58					2																	207629974		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.22+1G>A	2.37:g.207629974C>T			A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.G8S	ENST00000374412.3	37	c.22	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889427	0.72524	.	.	ENSG00000138400	ENST00000374412;ENST00000454776;ENST00000392214	T;T;T	0.59906	0.23;0.23;0.23	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.83483	2.645	0.43598	D	0.995952	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79529	-0.1766	9	.	.	.	-21.8644	15.311	0.74031	0.0:1.0:0.0:0.0	.	8;8	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	S	8	ENSP00000363533:G8S;ENSP00000389916:G8S;ENSP00000376049:G8S	.	G	-	1	0	MDH1B	207338219	0.993000	0.37304	0.978000	0.43139	0.058000	0.15608	3.846000	0.55888	2.571000	0.86741	0.462000	0.41574	GGT	MDH1B	-	NULL	ENSG00000138400		0.647	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	-	0	78	0	C	NM_001039845	Missense_Mutation	207629974	-1	tier1	-	no_errors	ENST00000374412	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.994	T	T	207629974	C	T	207629974	5	4	95	1	0	0	0	0	0	0	1	0	9447	637	22	3	1582	3	MDH1B	2	207629974	Splice_Site	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	3590089	207629974	35569399	57	27236											
RUFY4	285180	genome.wustl.edu	37	chr2	218940110	218940110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacccagcacccagggacagGggaagggggctatgggcact	10	3	16	12	0	0	0	0	0	0	0	0	2	0	2	2	6	1	3	2	6	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr2:218940110G>A	ENST00000344321.7	+	9	1413	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000374155.3_Missense_Mutation_p.G319R	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	299							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCAGGGACAGGGGAAGGGGGC	0.587																																																	0													29	28	28					2																	218940110		1948	4154	6102	SO:0001583	missense	0			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"Zinc fingers, FYVE domain containing"	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.895G>A	2.37:g.218940110G>A	ENSP00000345900:p.Gly299Arg		Q6ZR96	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.G319R	ENST00000344321.7	37	c.955		2	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504748	0.26949	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.40225	1.65;1.04	4.46	-5.71	0.02413	.	0.814245	0.10668	N	0.647900	T	0.18215	0.0437	N	0.17082	0.46	0.09310	N	0.999997	B	0.21225	0.053	B	0.11329	0.006	T	0.27434	-1.0074	10	0.15066	T	0.55	-2.2036	5.9898	0.19454	0.4218:0.3883:0.1899:0.0	.	299	Q6ZNE9	RUFY4_HUMAN	R	299;319	ENSP00000345900:G299R;ENSP00000363270:G319R	ENSP00000345900:G299R	G	+	1	0	RUFY4	218648355	0.000000	0.05858	0.003000	0.11579	0.371000	0.29859	-0.021000	0.12504	-0.962000	0.03604	-0.373000	0.07131	GGG	RUFY4	-	NULL	ENSG00000188282		0.587	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		-	0	49	0	G	NM_198483		218940110	1	tier1	-	no_errors	ENST00000374155	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.001	A	A	218940110	G	A	218940110	3	1	95	1	0	0	0	0	1	0	0	0	13786	1232	43	3	921	3	RUFY4	2	218940110	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	11310136	218940110	24259263	58	27237											
LRRFIP2	9209	genome.wustl.edu	37	chr3	37146969	37146969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcccttcgtccacgacTggcacgatcagaagacacaa	12	7	7	15	3	2	2	1	0	1	2	5	4	3	2	2	1	0	1	2	1	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:37146969T>C	ENST00000336686.4	-	14	840	c.760A>G	c.(760-762)Agt>Ggt	p.S254G	LRRFIP2_ENST00000421307.1_Missense_Mutation_p.S254G|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000354379.4_Intron			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	254	DVL3-binding.|Ser-rich.				Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.S254G(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						CGTCCACGACTGGCACGATCA	0.393																																																	2	Substitution - Missense(1)|Whole gene deletion(1)	ovary(1)|endometrium(1)											139	119	126					3																	37146969		2203	4300	6503	SO:0001583	missense	0			AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.760A>G	3.37:g.37146969T>C	ENSP00000338727:p.Ser254Gly		A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Missense_Mutation	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.S254G	ENST00000336686.4	37	c.760	CCDS2664.1	3	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327790	0.41197	.	.	ENSG00000093167	ENST00000421307;ENST00000336686	T;T	0.48836	0.8;0.8	6.17	6.17	0.99709	.	0.148541	0.64402	D	0.000013	T	0.24236	0.0587	N	0.08118	0	0.26250	N	0.978734	B	0.06786	0.001	B	0.04013	0.001	T	0.09862	-1.0655	10	0.25751	T	0.34	-20.892	5.9184	0.19067	0.1473:0.0758:0.0:0.7769	.	254	Q9Y608	LRRF2_HUMAN	G	254	ENSP00000392217:S254G;ENSP00000338727:S254G	ENSP00000338727:S254G	S	-	1	0	LRRFIP2	37121973	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.335000	0.33839	2.371000	0.80710	0.533000	0.62120	AGT	LRRFIP2	-	NULL	ENSG00000093167		0.393	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3		0	34	0	T	NM_006309		37146969	-1			no_errors	ENST00000336686	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	C	C	37146969	T	C	37146969	3	2	95	1	0	0	0	0	1	0	0	0	9063	1580	55	4	1465	4	LRRFIP2	3	37146969	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09		37146969	160875461	59	27238											
SLC22A14	9389	genome.wustl.edu	37	chr3	38348012	38348012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatctatcctgacgctaaGaagcgatcgctgatcaatga	12	10	10	9	3	2	4	1	3	1	1	4	6	3	5	1	1	1	2	1	1	4	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:38348012G>T	ENST00000273173.4	+	1	586	c.495G>T	c.(493-495)aaG>aaT	p.K165N	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.K165N	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	165					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)	p.K165N(1)		central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CTGACGCTAAGAAGCGATCGC	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											119	108	112					3																	38348012		2203	4300	6503	SO:0001583	missense	0			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"Solute carriers"	8495	protein-coding gene	gene with protein product		604048	"organic cationic transporter-like 4", "solute carrier family 22 (organic cation transporter), member 14"	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.495G>T	3.37:g.38348012G>T	ENSP00000273173:p.Lys165Asn		A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K165N	ENST00000273173.4	37	c.495	CCDS2677.1	3	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774719	0.49786	.	.	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	T;T;T	0.66638	-0.22;0.02;0.02	5.06	0.79	0.18613	Major facilitator superfamily domain (1);	0.760161	0.13229	N	0.403775	T	0.63885	0.2549	L	0.55213	1.73	0.09310	N	1	P	0.43662	0.814	P	0.47915	0.561	T	0.53005	-0.8499	10	0.39692	T	0.17	.	6.8334	0.23923	0.1679:0.2739:0.5583:0.0	.	165	Q9Y267	S22AE_HUMAN	N	33;165;165;165	ENSP00000442528:K33N;ENSP00000396283:K165N;ENSP00000273173:K165N	ENSP00000273173:K165N	K	+	3	2	SLC22A14	38323016	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.488000	0.22371	0.017000	0.15025	-0.345000	0.07892	AAG	SLC22A14	-	pfscan_MFS_dom	ENSG00000144671		0.498	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A14	HGNC	protein_coding	OTTHUMT00000253742.3		0	25	0	G	NM_004803		38348012	1			no_errors	ENST00000273173	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.001	T	T	38348012	G	T	38348012	3	4	95	1	0	0	0	0	1	0	0	0	14490	933	33	3	497	3	SLC22A14	3	38348012	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1201043	38348012	159674418	60	27239											
IFRD2	7866	genome.wustl.edu	37	chr3	50327897	50327898	+	Frame_Shift_Ins	INS	-	-	C																															gccctgctcatccacgacatINSccccccctgcaaggccacct																								rs370371774		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:50327897_50327898insC	ENST00000429673.2	-	3	375_376	c.376_377insG	c.(376-378)gatfs	p.D126fs	IFRD2_ENST00000484043.1_5'UTR|IFRD2_ENST00000436390.1_Frame_Shift_Ins_p.D62fs|IFRD2_ENST00000417626.2_Frame_Shift_Ins_p.D62fs|IFRD2_ENST00000336089.4_Frame_Shift_Ins_p.D228fs			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	126						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATCCACGACATCCCCCCCTGCA	0.599																																																	0																																										SO:0001589	frameshift_variant	0			U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"interferon-related protein"	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.377dupG	3.37:g.50327904_50327904dupC	ENSP00000398971:p.Asp126fs		Q9BVB4|Q9UJ88	Frame_Shift_Ins	INS	pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold	p.D228fs	ENST00000429673.2	37	c.683_682	CCDS46831.1	3																																																																																			IFRD2	-	pfam_Interferon-rel_develop_reg_N	ENSG00000214706		0.599	IFRD2-202	KNOWN	basic|CCDS	protein_coding	IFRD2	HGNC	protein_coding			0	55	0	-	NM_006764		50327898	-1	tier1		no_errors	ENST00000336089	ensembl	human	known	74_37	frame_shift_ins	26.09	34	12	INS	0.995:0.996	C	C	50327898	-	C	50327897	7	5	95	1	0	1	1	0	0	0	0	0	7581	1435	50	0	1183	0	IFRD2	3	50327897	Frame_Shift_Ins	INS	-	TCGA-L5-A8NW-01A-11D-A37C-09	11979885	50327897	147694533	61	27240											
PHF7	51533	genome.wustl.edu	37	chr3	52457215	52457215	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaatccgggcctttcttGgactgattggccagaacctt	9	11	11	10	1	1	3	0	1	1	2	2	5	2	4	4	3	1	0	4	3	2	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:52457215G>A	ENST00000327906.3	+	11	1688	c.1028G>A	c.(1027-1029)tGg>tAg	p.W343*	PHF7_ENST00000347025.2_Nonsense_Mutation_p.W304*	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	343						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		GGCCTTTCTTGGACTGATTGG	0.527																																																	0													80	82	81					3																	52457215		2203	4300	6503	SO:0001587	stop_gained	0			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"Zinc fingers, PHD-type"	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.1028G>A	3.37:g.52457215G>A	ENSP00000333024:p.Trp343*		K4DI82	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING	p.W343*	ENST00000327906.3	37	c.1028	CCDS2854.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.860625|1.860625	0.32884|0.32884	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000478707;ENST00000327906;ENST00000347025;ENST00000394916	.|.	.|.	.|.	5.3|5.3	3.36|3.36	0.38483|0.38483	.|.	.|0.683503	.|0.14945	.|N	.|0.289293	T|.	0.53206|.	0.1782|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44128|.	-0.9348|.	4|.	.|0.26408	.|T	.|0.33	-11.2993|-11.2993	7.8007|7.8007	0.29172|0.29172	0.0:0.1678:0.6348:0.1974|0.0:0.1678:0.6348:0.1974	.|.	.|.	.|.	.|.	R|X	288|343;343;304;252	.|.	.|ENSP00000333024:W343X	G|W	+|+	1|2	0|0	PHF7|PHF7	52432255|52432255	0.926000|0.926000	0.31397|0.31397	0.978000|0.978000	0.43139|0.43139	0.107000|0.107000	0.19398|0.19398	1.767000|1.767000	0.38501|0.38501	1.464000|1.464000	0.47987|0.47987	0.655000|0.655000	0.94253|0.94253	GGA|TGG	PHF7	-	NULL	ENSG00000010318		0.527	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF7	HGNC	protein_coding	OTTHUMT00000351155.1	-	0	65	0	G	NM_016483		52457215	1	tier1	-	no_errors	ENST00000327906	ensembl	human	known	74_37	nonsense	70.00	12	28	SNP	0.697	A	A	52457215	G	A	52457215	4	1	95	1	0	0	0	0	0	1	0	0	11878	1357	47	3	1066	3	PHF7	3	52457215	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2129318	52457215	145565215	62	27241											
STAB1	23166	genome.wustl.edu	37	chr3	52555008	52555008	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccctggtcactatggCagtgagtgccaaggtgagca	8	9	14	10	0	1	2	1	2	0	0	1	2	1	2	2	3	4	3	2	3	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:52555008C>G	ENST00000321725.6	+	55	5971	c.5895C>G	c.(5893-5895)ggC>ggG	p.G1965G		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1965					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCACTATGGCAGTGAGTGCC	0.597																																																	0													20	23	22					3																	52555008		2198	4298	6496	SO:0001819	synonymous_variant	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"MS-1 antigen", "fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1", "common lymphatic endothelial and vascular endothelial receptor-1"	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5895C>G	3.37:g.52555008C>G			A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G1965	ENST00000321725.6	37	c.5895	CCDS33768.1	3																																																																																			STAB1	-	NULL	ENSG00000010327		0.597	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2		0	53	0	C	NM_015136		52555008	1			no_errors	ENST00000321725	ensembl	human	known	74_37	silent	6.67	28	2	SNP	0.825	G	G	52555008	C	G	52555008	2	3	95	1	0	0	0	0	0	0	0	1	15284	697	25	5		5	STAB1	3	52555008	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	97793	52555008	145467422	63	27242											
PDZRN3	23024	genome.wustl.edu	37	chr3	73453350	73453350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggctgggagaggacatcTtagtgagggccatgatatgt	9	10	17	5	0	1	3	0	2	1	1	1	5	1	4	1	4	0	1	1	4	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:73453350T>A	ENST00000263666.4	-	4	1229	c.1115A>T	c.(1114-1116)aAg>aTg	p.K372M	PDZRN3_ENST00000462146.2_Missense_Mutation_p.K29M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.K89M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.K94M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.K29M|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	372					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGAGGACATCTTAGTGAGGGC	0.493																																																	0													175	143	154					3																	73453350		2203	4300	6503	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1115A>T	3.37:g.73453350T>A	ENSP00000263666:p.Lys372Met		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.K372M	ENST00000263666.4	37	c.1115	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431103	0.62844	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.12255	2.7;3.39;3.27;3.27;3.41;3.38	6.07	4.91	0.64330	.	0.244039	0.34906	N	0.003591	T	0.30070	0.0753	M	0.76574	2.34	0.54753	D	0.999987	P;P;B;D	0.67145	0.538;0.93;0.032;0.996	P;P;B;P	0.55999	0.575;0.599;0.066;0.789	T	0.03130	-1.1069	10	0.54805	T	0.06	.	12.1187	0.53880	0.0:0.0675:0.0:0.9325	.	94;89;89;372	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	M	372;94;29;29;89;372;70	ENSP00000263666:K372M;ENSP00000442026:K94M;ENSP00000418168:K29M;ENSP00000418484:K29M;ENSP00000418624:K89M;ENSP00000419250:K70M	ENSP00000263666:K372M	K	-	2	0	PDZRN3	73536040	1.000000	0.71417	0.889000	0.34880	0.732000	0.41865	4.079000	0.57613	1.104000	0.41587	0.533000	0.62120	AAG	PDZRN3	-	NULL	ENSG00000121440		0.493	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	83	0	T	XM_041363		73453350	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A	A	73453350	T	A	73453350	3	1	95	1	0	0	0	0	1	0	0	0	11748	1609	56	5	2113	5	PDZRN3	3	73453350	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	20898342	73453350	124569080	64	27243											
PDZRN3	23024	genome.wustl.edu	37	chr3	73673859	73673859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagggcagcacgcagcCggcgcagaagacgtggccgc	9	1	15	16	5	0	2	0	0	0	2	0	2	0	2	3	3	2	4	3	3	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:73673859C>T	ENST00000263666.4	-	1	232	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	PDZRN3-AS1_ENST00000478988.1_RNA|PDZRN3-AS1_ENST00000608743.1_RNA|PDZRN3_ENST00000308537.4_Missense_Mutation_p.G40S|PDZRN3-AS1_ENST00000608304.1_RNA	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	40					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCACGCAGCCGGCGCAGAAG	0.721																																																	0													7	6	6					3																	73673859		2122	4172	6294	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"RING-type (C3HC4) zinc fingers"	17704	protein-coding gene	gene with protein product	"likely ortholog of mouse semaF cytoplasmic domain associated protein 3"	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.118G>A	3.37:g.73673859C>T	ENSP00000263666:p.Gly40Ser		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.G40S	ENST00000263666.4	37	c.118	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066610	0.36470	.	.	ENSG00000121440	ENST00000263666;ENST00000416926;ENST00000308537	T;T	0.39592	1.07;1.07	4.39	3.5	0.40072	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.065408	0.64402	N	0.000010	T	0.13927	0.0337	N	0.02403	-0.565	0.80722	D	1	B	0.28178	0.202	B	0.19946	0.027	T	0.09574	-1.0668	10	0.07482	T	0.82	.	8.1049	0.30879	0.157:0.7577:0.0:0.0853	.	40	Q9UPQ7	PZRN3_HUMAN	S	40	ENSP00000263666:G40S;ENSP00000308831:G40S	ENSP00000263666:G40S	G	-	1	0	PDZRN3	73756549	1.000000	0.71417	0.953000	0.39169	0.776000	0.43924	4.345000	0.59360	0.807000	0.34208	0.205000	0.17691	GGC	PDZRN3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000121440		0.721	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	-	0	32	0	C	XM_041363		73673859	-1	tier1	-	no_errors	ENST00000263666	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T	T	73673859	C	T	73673859	3	4	95	1	0	0	0	0	1	0	0	0	11748	652	23	1	3122	1	PDZRN3	3	73673859	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	220509	73673859	124348571	65	27244											
ROBO2	6092	genome.wustl.edu	37	chr3	77600026	77600026	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagatgctcagtgtcaccaActggagacctcacaatcacc	12	8	8	13	0	4	2	4	0	0	2	4	3	4	2	3	1	2	2	3	1	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:77600026A>T	ENST00000461745.1	+	8	2017	c.1117A>T	c.(1117-1119)Act>Tct	p.T373S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T389S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T373S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	373	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTGTCACCAACTGGAGACCT	0.463																																																	0													92	91	92					3																	77600026		1952	4145	6097	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	10250	protein-coding gene	gene with protein product		602431	"roundabout (axon guidance receptor, Drosophila) homolog 2"			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1117A>T	3.37:g.77600026A>T	ENSP00000417164:p.Thr373Ser		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T373S	ENST00000461745.1	37	c.1117	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	A	9.236	1.036976	0.19669	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.66995	-0.24;-0.24;-0.24	5.35	4.18	0.49190	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.335013	0.21535	N	0.072996	T	0.43033	0.1229	N	0.11154	0.105	0.39391	D	0.966423	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.18871	0.023;0.003;0.023	T	0.42899	-0.9424	9	0.06891	T	0.86	.	11.5373	0.50645	0.929:0.0:0.071:0.0	.	389;373;373	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	S	389;389;393;373;373;94	ENSP00000417335:T389S;ENSP00000417164:T373S;ENSP00000327536:T373S	ENSP00000327536:T373S	T	+	1	0	ROBO2	77682716	1.000000	0.71417	0.783000	0.31826	0.529000	0.34654	4.467000	0.60155	0.971000	0.38288	0.402000	0.26972	ACT	ROBO2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000185008		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0	69	0	A	XM_031246		77600026	1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	65.15	23	43	SNP	1.000	T	T	77600026	A	T	77600026	3	4	95	1	0	0	0	0	1	0	0	0	13559	43	2	5	1149	5	ROBO2	3	77600026	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	3926167	77600026	120422404	66	27245											
GBE1	2632	genome.wustl.edu	37	chr3	81586214	81586214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatttccttttcttgggaAgtctaaccattcaggatgcc	9	16	7	9	0	3	0	1	0	2	0	4	2	4	2	3	2	2	0	3	2	3	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:81586214A>C	ENST00000429644.2	-	13	2294	c.1651T>G	c.(1651-1653)Ttc>Gtc	p.F551V	GBE1_ENST00000489715.1_Missense_Mutation_p.F510V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	551					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TTTCTTGGGAAGTCTAACCAT	0.338									Glycogen Storage Disease, type IV																																								0													64	63	63					3																	81586214		1847	4104	5951	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"glycogen branching enzyme", "Andersen disease", "glycogen storage disease type IV"	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1651T>G	3.37:g.81586214A>C	ENSP00000410833:p.Phe551Val		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.F551V	ENST00000429644.2	37	c.1651	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247777	0.80024	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	D;D	0.93247	-3.19;-3.19	5.3	5.3	0.74995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	H	0.99074	4.42	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99777	1.1026	10	0.87932	D	0	-21.3026	15.5267	0.75915	1.0:0.0:0.0:0.0	.	510;551	E9PGM4;Q04446	.;GLGB_HUMAN	V	551;602;510;314	ENSP00000410833:F551V;ENSP00000419638:F510V	ENSP00000264326:F602V	F	-	1	0	GBE1	81668904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.132000	0.65825	0.528000	0.53228	TTC	GBE1	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	-	0	39	0	A			81586214	-1	tier1	-	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	60.61	13	20	SNP	1.000	C	C	81586214	A	C	81586214	3	2	95	1	0	0	0	0	1	0	0	0	6295	72	3	4	473	4	GBE1	3	81586214	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	3986188	81586214	116436216	67	27246											
EPHA3	2042	genome.wustl.edu	37	chr3	89445011	89445011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacctgtcctgacgattaAgaaagatcggacctccagaa	14	8	8	11	2	1	4	1	1	0	3	4	6	3	5	4	1	0	0	4	1	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:89445011A>G	ENST00000336596.2	+	6	1556	c.1331A>G	c.(1330-1332)aAg>aGg	p.K444R	EPHA3_ENST00000494014.1_Missense_Mutation_p.K444R|EPHA3_ENST00000452448.2_Missense_Mutation_p.K444R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	444	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTGACGATTAAGAAAGATCGG	0.443										TSP Lung(6;0.00050)																																							0													159	152	154					3																	89445011		2203	4300	6503	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1331A>G	3.37:g.89445011A>G	ENSP00000337451:p.Lys444Arg		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.K444R	ENST00000336596.2	37	c.1331	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	A	4.691	0.128574	0.08981	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.57436	0.4;0.4;0.4	5.66	3.01	0.34805	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.141333	0.64402	N	0.000009	T	0.26122	0.0637	N	0.11313	0.125	0.33912	D	0.639762	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.16305	-1.0407	9	.	.	.	.	4.7347	0.12982	0.5735:0.0:0.4265:0.0	.	444;444	P29320;P29320-2	EPHA3_HUMAN;.	R	444	ENSP00000337451:K444R;ENSP00000399926:K444R;ENSP00000419190:K444R	.	K	+	2	0	EPHA3	89527701	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.423000	0.52756	1.075000	0.40932	0.533000	0.62120	AAG	EPHA3	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000044524		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	HGNC	protein_coding	OTTHUMT00000352995.1	-	0	38	0	A	NM_005233		89445011	1	tier1	-	no_errors	ENST00000336596	ensembl	human	known	74_37	missense	54.55	15	18	SNP	1.000	G	G	89445011	A	G	89445011	3	3	95	1	0	0	0	0	1	0	0	0	5184	72	3	4	1353	4	EPHA3	3	89445011	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	7858797	89445011	108577419	68	27247											
EPHA6	285220	genome.wustl.edu	37	chr3	97194249	97194249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtgatagccaccgccgctGttggcggattcactctcctc	5	11	10	15	4	2	1	1	1	1	0	5	2	2	2	4	2	1	2	4	2	1	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:97194249G>A	ENST00000514100.1	+	5	366	c.124G>A	c.(124-126)Gtt>Att	p.V42I	EPHA6_ENST00000389672.5_Missense_Mutation_p.V650I|EPHA6_ENST00000442602.2_Missense_Mutation_p.V16I|EPHA6_ENST00000502694.1_Missense_Mutation_p.V42I	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	556	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACCGCCGCTGTTGGCGGATT	0.428																																																	0													83	85	84					3																	97194249		1914	4128	6042	SO:0001583	missense	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.124G>A	3.37:g.97194249G>A	ENSP00000421711:p.Val42Ile		D6RAL5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V650I	ENST00000514100.1	37	c.1948		3	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904778	0.72868	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	6.07	6.07	0.98685	.	.	.	.	.	T	0.32496	0.0831	L	0.48174	1.505	0.58432	D	0.999993	D;P;D;D	0.67145	0.995;0.677;0.996;0.995	D;B;D;D	0.76071	0.984;0.272;0.987;0.985	T	0.00216	-1.1910	9	0.24483	T	0.36	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	16;555;42;42	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	I	650;42;42;16	ENSP00000374323:V650I;ENSP00000421711:V42I;ENSP00000423950:V42I;ENSP00000403100:V16I	ENSP00000374323:V650I	V	+	1	0	EPHA6	98676939	1.000000	0.71417	0.399000	0.26333	0.188000	0.23474	8.689000	0.91265	2.885000	0.99019	0.655000	0.94253	GTT	EPHA6	-	NULL	ENSG00000080224		0.428	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	-	0	52	0	G	NM_001080448		97194249	1	tier1	-	no_errors	ENST00000389672	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.997	A	A	97194249	G	A	97194249	3	1	95	1	0	0	0	0	1	0	0	0	5187	1377	48	3	2046	3	EPHA6	3	97194249	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	7749238	97194249	100828181	69	27248											
GPR15	2838	genome.wustl.edu	37	chr3	98251394	98251394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcctactcttctgtccaggGagctcacgctgattgatgat	7	13	10	11	1	3	3	1	3	2	0	4	4	4	4	2	1	3	2	2	1	1	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:98251394G>A	ENST00000284311.3	+	1	652	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	173					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TCTGTCCAGGGAGCTCACGCT	0.463																																																	0													119	102	108					3																	98251394		2203	4300	6503	SO:0001583	missense	0				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"GPCR / Class A : Orphans"	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.517G>A	3.37:g.98251394G>A	ENSP00000284311:p.Glu173Lys		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.E173K	ENST00000284311.3	37	c.517	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011396	0.19277	.	.	ENSG00000154165	ENST00000284311	T	0.71579	-0.58	4.65	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.120621	0.35936	N	0.002882	T	0.53029	0.1771	L	0.33189	0.99	0.09310	N	1	B	0.19445	0.036	B	0.24006	0.05	T	0.21314	-1.0249	10	0.16420	T	0.52	-12.4778	6.074	0.19905	0.1012:0.1915:0.7073:0.0	.	173	P49685	GPR15_HUMAN	K	173	ENSP00000284311:E173K	ENSP00000284311:E173K	E	+	1	0	GPR15	99734084	0.985000	0.35326	1.000000	0.80357	0.887000	0.51463	1.744000	0.38268	2.579000	0.87056	0.591000	0.81541	GAG	GPR15	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_rcpt	ENSG00000154165		0.463	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	-	0	39	0	G			98251394	1	tier1	-	no_errors	ENST00000284311	ensembl	human	known	74_37	missense	27.59	20	8	SNP	0.052	A	A	98251394	G	A	98251394	3	1	95	1	0	0	0	0	1	0	0	0	6681	1175	41	3	519	3	GPR15	3	98251394	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1057145	98251394	99771036	70	27249											
KIAA1524	57650	genome.wustl.edu	37	chr3	108270008	108270008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatgtctatatactgagAttcacagtttctggatttat	12	17	6	6	0	3	1	1	1	2	1	3	3	3	2	0	1	1	1	0	1	5	8			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:108270008A>T	ENST00000295746.8	-	21	2782	c.2706T>A	c.(2704-2706)aaT>aaA	p.N902K	KIAA1524_ENST00000491772.1_Missense_Mutation_p.N743K	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	902					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATATACTGAGATTCACAGTTT	0.368																																																	0													90	84	86					3																	108270008		2202	4300	6502	SO:0001583	missense	0			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"cancerous inhibitor of protein phosphatase 2A"	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2706T>A	3.37:g.108270008A>T	ENSP00000295746:p.Asn902Lys		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.N902K	ENST00000295746.8	37	c.2706	CCDS33812.1	3	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910130	0.72983	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.15372	2.43;2.52	5.33	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	M	0.67953	2.075	0.51233	D	0.999917	D	0.89917	1.0	D	0.87578	0.998	T	0.03315	-1.1049	10	0.87932	D	0	-19.5761	7.4827	0.27415	0.5299:0.0:0.4701:0.0	.	902	Q8TCG1	CIP2A_HUMAN	K	743;902	ENSP00000419487:N743K;ENSP00000295746:N902K	ENSP00000295746:N902K	N	-	3	2	KIAA1524	109752698	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.922000	0.28734	0.308000	0.22923	0.482000	0.46254	AAT	KIAA1524	-	NULL	ENSG00000163507		0.368	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1524	HGNC	protein_coding	OTTHUMT00000353975.2	-	0	93	0	A	NM_020890		108270008	-1	tier1	-	no_errors	ENST00000295746	ensembl	human	known	74_37	missense	28.99	49	20	SNP	1.000	T	T	108270008	A	T	108270008	3	4	95	1	0	0	0	0	1	0	0	0	8266	330	12	5	15	5	KIAA1524	3	108270008	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	10018614	108270008	89752422	71	27250											
CPNE4	131034	genome.wustl.edu	37	chr3	131268922	131268922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttccacaactccttgaaTtcctgaggtgaaattggcaa	11	11	9	10	0	0	3	0	3	0	0	3	3	3	3	3	3	1	2	3	3	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:131268922T>G	ENST00000512055.1	-	18	3297	c.1171A>C	c.(1171-1173)Att>Ctt	p.I391L	CPNE4_ENST00000512332.1_Missense_Mutation_p.I409L|CPNE4_ENST00000502818.1_Missense_Mutation_p.I409L|CPNE4_ENST00000429747.1_Missense_Mutation_p.I391L|CPNE4_ENST00000511604.1_Missense_Mutation_p.I391L			Q96A23	CPNE4_HUMAN	copine IV	391	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACTCCTTGAATTCCTGAGGTG	0.438																																																	0													96	95	95					3																	131268922		2203	4300	6503	SO:0001583	missense	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"copine 8"	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1171A>C	3.37:g.131268922T>G	ENSP00000421705:p.Ile391Leu		D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.I409L	ENST00000512055.1	37	c.1225	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597635	0.66332	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.33	5.33	0.75918	von Willebrand factor, type A (1);Copine (1);	0.185327	0.56097	D	0.000039	T	0.28699	0.0711	L	0.53617	1.68	0.80722	D	1	B;P	0.37663	0.395;0.604	B;B	0.42653	0.382;0.394	T	0.03898	-1.0994	10	0.62326	D	0.03	-16.1244	15.2967	0.73913	0.0:0.0:0.0:1.0	.	409;391	Q96A23-2;Q96A23	.;CPNE4_HUMAN	L	391;391;409;391;409	ENSP00000421705:I391L;ENSP00000411904:I391L;ENSP00000424853:I409L;ENSP00000423811:I391L;ENSP00000421646:I409L	ENSP00000411904:I391L	I	-	1	0	CPNE4	132751612	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.141000	0.64814	2.028000	0.59812	0.379000	0.24179	ATT	CPNE4	-	pfam_Copine,smart_VWF_A	ENSG00000196353		0.438	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	-	0	35	0	T	NM_130808		131268922	-1	tier1	-	no_errors	ENST00000502818	ensembl	human	known	74_37	missense	84.62	4	22	SNP	1.000	G	G	131268922	T	G	131268922	3	3	95	1	0	0	0	0	1	0	0	0	3821	1493	52	4	514	4	CPNE4	3	131268922	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	22998914	131268922	66753508	72	27251											
HPS3	84343	genome.wustl.edu	37	chr3	148868389	148868389	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttcctcctcagtaaCaacctgcagtgtttcactgt	7	15	7	12	0	3	0	2	0	1	0	5	0	5	0	3	0	3	3	3	0	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:148868389C>T	ENST00000296051.2	+	6	1307	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	HPS3_ENST00000460120.1_Silent_p.N224N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	389					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCCTCAGTAACAACCTGCAGT	0.557									Hermansky-Pudlak syndrome																																								0													110	97	102					3																	148868389		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1167C>T	3.37:g.148868389C>T			A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	pirsf_HPS3	p.N389	ENST00000296051.2	37	c.1167	CCDS3140.1	3																																																																																			HPS3	-	pirsf_HPS3	ENSG00000163755		0.557	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	-	0	155	0	C	NM_032383		148868389	1	tier1	-	no_errors	ENST00000296051	ensembl	human	known	74_37	silent	59.63	44	65	SNP	1.000	T	T	148868389	C	T	148868389	2	4	95	1	0	0	0	0	0	0	0	1	7367	477	17	3		3	HPS3	3	148868389	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	17599467	148868389	49154041	73	27252											
LRRIQ4	344657	genome.wustl.edu	37	chr3	169540621	169540621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcaggtgcctggtcaaCttgcgcttcctggacctaag	6	12	10	13	1	2	0	2	0	0	0	4	1	4	1	4	3	3	1	4	3	2	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:169540621C>T	ENST00000340806.6	+	1	912	c.912C>T	c.(910-912)aaC>aaT	p.N304N		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	304										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGGTCAACTTGCGCTTCC	0.582																																																	0													41	42	42					3																	169540621		2035	4183	6218	SO:0001819	synonymous_variant	0				CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"leucine rich repeat containing 64"						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.912C>T	3.37:g.169540621C>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS	p.N304	ENST00000340806.6	37	c.912	CCDS46951.1	3																																																																																			LRRIQ4	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188306		0.582	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRIQ4	HGNC	protein_coding	OTTHUMT00000378698.1	-	0	38	0	C	NM_001080460		169540621	1	tier1	-	no_errors	ENST00000340806	ensembl	human	known	74_37	silent	42.86	20	15	SNP	0.000	T	T	169540621	C	T	169540621	2	4	95	1	0	0	0	0	0	0	0	1	9066	564	20	3		3	LRRIQ4	3	169540621	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	20672232	169540621	28481809	74	27253											
PIK3CA	5290	genome.wustl.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	26	Substitution - Missense(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)											93	87	89					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A			Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G118D	ENST00000263967.3	37	c.353	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT	PIK3CA	-	NULL	ENSG00000121879		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	47	0	G		Missense_Mutation	178917478	1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	A	A	178917478	G	A	178917478	5	1	95	1	0	0	0	0	0	0	1	0	11952	1275	44	3	359	3	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	9376857	178917478	19104952	75	27254											
CHRD	8646	genome.wustl.edu	37	chr3	184104327	184104327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggactgcgcctggaggcGgccggggccgagggggtgcg	3	3	24	11	6	0	0	0	0	0	0	0	3	0	2	3	9	2	0	3	9	0	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:184104327G>A	ENST00000204604.1	+	16	2226	c.1980G>A	c.(1978-1980)gcG>gcA	p.A660A	CHRD_ENST00000348986.3_Silent_p.A620A|CHRD_ENST00000450923.1_Silent_p.A660A|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	660					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCTGGAGGCGGCCGGGGCCG	0.711																																																	0													3	3	3					3																	184104327		1606	3301	4907	SO:0001819	synonymous_variant	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1980G>A	3.37:g.184104327G>A			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.A660	ENST00000204604.1	37	c.1980	CCDS3266.1	3																																																																																			CHRD	-	pirsf_Chordin	ENSG00000090539		0.711	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0	12	0	G	NM_003741		184104327	1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	silent	60.00	4	6	SNP	0.000	A	A	184104327	G	A	184104327	2	1	95	1	0	0	0	0	0	0	0	1	3379	1103	39	1		1	CHRD	3	184104327	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5186849	184104327	13918103	76	27255											
RTP2	344892	genome.wustl.edu	37	chr3	187416659	187416659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggactcgtccagccgcGccgtgccgcactcatagcac	6	7	11	17	5	1	0	1	0	0	0	3	1	2	1	4	1	4	3	4	1	1	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:187416659G>A	ENST00000358241.1	-	2	733	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	102					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GTCCAGCCGCGCCGTGCCGCA	0.647																																																	0													24	22	23					3																	187416659		2200	4273	6473	SO:0001583	missense	0			AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"Receptor transporter proteins"	32486	protein-coding gene	gene with protein product	"receptor transporting protein 2", "zinc finger, 3CxxC-type 2"	609138	"receptor transporter protein 2"			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.305C>T	3.37:g.187416659G>A	ENSP00000350976:p.Ala102Val		Q6NVH4	Missense_Mutation	SNP	NULL	p.A102V	ENST00000358241.1	37	c.305	CCDS33911.1	3	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051447	0.55218	.	.	ENSG00000198471	ENST00000358241	T	0.23147	1.92	4.17	4.17	0.49024	.	0.286088	0.37857	N	0.001907	T	0.23688	0.0573	L	0.42245	1.32	0.26185	N	0.979661	P	0.42248	0.774	B	0.40901	0.343	T	0.14035	-1.0487	10	0.49607	T	0.09	-16.6618	12.2956	0.54844	0.0:0.0:1.0:0.0	.	102	Q5QGT7	RTP2_HUMAN	V	102	ENSP00000350976:A102V	ENSP00000350976:A102V	A	-	2	0	RTP2	188899353	0.420000	0.25457	0.999000	0.59377	0.346000	0.29079	2.897000	0.48664	2.621000	0.88768	0.563000	0.77884	GCG	RTP2	-	NULL	ENSG00000198471		0.647	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP2	HGNC	protein_coding	OTTHUMT00000344259.1	-	0	32	0	G	NM_001004312		187416659	-1	tier1	-	no_errors	ENST00000358241	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.998	A	A	187416659	G	A	187416659	3	1	95	1	0	0	0	0	1	0	0	0	13779	1087	38	1	376	1	RTP2	3	187416659	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	3312332	187416659	10605771	77	27256											
LRRC33	375387	genome.wustl.edu	37	chr3	196388263	196388263	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtctgagcagctctcGagaggtctgcggaccatcta	7	10	13	11	2	4	2	0	1	4	1	5	4	4	3	1	2	3	3	1	2	1	1	rs560844051	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr3:196388263G>T	ENST00000328557.4	+	3	1952	c.1749G>T	c.(1747-1749)tcG>tcT	p.S583S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	583					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S583S(1)									AGCAGCTCTCGAGAGGTCTGC	0.627																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											54	60	58					3																	196388263		2203	4300	6503	SO:0001819	synonymous_variant	0			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"leucine rich repeat containing 33"	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.1749G>T	3.37:g.196388263G>T				Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S583	ENST00000328557.4	37	c.1749	CCDS3319.1	3																																																																																			NRROS	-	NULL	ENSG00000174004		0.627	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRROS	HGNC	protein_coding	OTTHUMT00000340676.1		0	40	0	G	NM_198565		196388263	1			no_errors	ENST00000328557	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.000	T	T	196388263	G	T	196388263	2	4	95	1	0	0	0	0	0	0	0	1	9023	1045	37	2		2	LRRC33	3	196388263	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	8971604	196388263	1634167	78	27257											
ZNF721	170960	genome.wustl.edu	37	chr4	437306	437306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtacataaaggtttgcgGactgtctaaaggctttgcca	11	13	10	7	1	1	0	0	0	1	0	1	1	1	1	1	3	3	3	1	3	6	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:437306G>T	ENST00000338977.5	-	2	962	c.914C>A	c.(913-915)tCc>tAc	p.S305Y	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.S317Y|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AAGGTTTGCGGACTGTCTAAA	0.403																																																	0													79	86	84					4																	437306		2096	4242	6338	SO:0001583	missense	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.914C>A	4.37:g.437306G>T	ENSP00000340524:p.Ser305Tyr		Q69YG7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S317Y	ENST00000338977.5	37	c.950		4	.	.	.	.	.	.	.	.	.	.	G	5.544	0.285299	0.10513	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.10668	2.85;2.85	0.75	-0.645	0.11475	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20861	0.0502	L	0.61387	1.9	0.09310	N	1	D;D;D	0.60160	0.987;0.964;0.979	P;P;D	0.67900	0.901;0.901;0.954	T	0.16600	-1.0397	9	0.26408	T	0.33	.	5.2774	0.15657	0.0:0.0:0.6676:0.3323	.	305;317;317	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	Y	305;317	ENSP00000340524:S305Y;ENSP00000428878:S317Y	ENSP00000340524:S305Y	S	-	2	0	ZNF721	427306	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.686000	0.05161	-0.268000	0.09312	0.205000	0.17691	TCC	ZNF721	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182903		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	HGNC	protein_coding	OTTHUMT00000357939.1	-	0	83	0	G	NM_133474		437306	-1	tier1	-	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.000	T	T	437306	G	T	437306	3	4	95	1	0	0	0	0	1	0	0	0	18170	1174	41	3	1825	3	ZNF721	4	437306	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		437306	190716970	79	27258											
MSX1	4487	genome.wustl.edu	37	chr4	4864564	4864564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtccatcgccgagcgCgcggagttctccagctcgct	5	9	11	16	6	1	0	0	0	1	0	5	2	2	1	4	1	3	3	4	1	1	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:4864564C>T	ENST00000382723.4	+	2	840	c.606C>T	c.(604-606)cgC>cgT	p.R202R	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	202			R -> P (in STHAG1; severely impairs DNA- binding). {ECO:0000269|PubMed:8696335}.		activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCGCCGAGCGCGCGGAGTTCT	0.627																																																	0													41	45	44					4																	4864564		2203	4300	6503	SO:0001819	synonymous_variant	0			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"Homeoboxes / ANTP class : NKL subclass"	7391	protein-coding gene	gene with protein product		142983	"msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)", "msh homeobox homolog 1 (Drosophila)"	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.606C>T	4.37:g.4864564C>T			A0SZU5|A8K3M1|Q96NY4	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R202	ENST00000382723.4	37	c.606	CCDS3378.2	4																																																																																			MSX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000163132		0.627	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	-	0	65	0	C			4864564	1	tier1	-	no_errors	ENST00000382723	ensembl	human	known	74_37	silent	45.16	17	14	SNP	1.000	T	T	4864564	C	T	4864564	2	4	95	1	0	0	0	0	0	0	0	1	9933	755	27	1		1	MSX1	4	4864564	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	4427258	4864564	186289712	80	27259											
HTRA3	94031	genome.wustl.edu	37	chr4	8305945	8305945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggccagcaacccggacTtcccagaggtcagcagtgga	11	5	13	12	1	1	2	1	1	0	1	2	4	2	4	3	4	3	2	3	4	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:8305945T>A	ENST00000307358.2	+	8	1339	c.1135T>A	c.(1135-1137)Ttc>Atc	p.F379I		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	379	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						CAACCCGGACTTCCCAGAGGT	0.582																																																	0													71	71	71					4																	8305945		2203	4300	6503	SO:0001583	missense	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"pregnancy-related serine protease"	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1135T>A	4.37:g.8305945T>A	ENSP00000303766:p.Phe379Ile		Q7Z7A2	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.F379I	ENST00000307358.2	37	c.1135	CCDS3400.1	4	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926269	0.34002	.	.	ENSG00000170801	ENST00000307358	T	0.20332	2.08	4.55	2.1	0.27182	PDZ/DHR/GLGF (2);	0.125962	0.53938	D	0.000044	T	0.29321	0.0730	M	0.65498	2.005	0.80722	D	1	D	0.56035	0.974	P	0.50791	0.65	T	0.02526	-1.1146	10	0.66056	D	0.02	-16.9435	8.505	0.33181	0.0:0.1612:0.0:0.8388	.	379	P83110	HTRA3_HUMAN	I	379	ENSP00000303766:F379I	ENSP00000303766:F379I	F	+	1	0	HTRA3	8356845	1.000000	0.71417	0.423000	0.26634	0.170000	0.22686	2.821000	0.48065	0.174000	0.19809	0.402000	0.26972	TTC	HTRA3	-	superfamily_PDZ,smart_PDZ	ENSG00000170801		0.582	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0	81	0	T	NM_053044		8305945	1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	missense	46.94	26	23	SNP	1.000	A	A	8305945	T	A	8305945	3	1	95	1	0	0	0	0	1	0	0	0	7482	1609	56	5	1165	5	HTRA3	4	8305945	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	3441381	8305945	182848331	81	27260											
TLR6	10333	genome.wustl.edu	37	chr4	38829588	38829588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggaaactgaattgtgatCaatgatcaatacagaaaggc	16	9	11	5	0	2	4	2	3	0	1	2	5	2	5	0	2	2	0	0	2	6	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:38829588C>T	ENST00000381950.1	-	1	1572	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	TLR6_ENST00000436693.2_Missense_Mutation_p.D503N			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	503					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAATTGTGATCAATGATCAAT	0.433																																																	0													54	60	58					4																	38829588		2202	4280	6482	SO:0001583	missense	0				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"CD molecules"	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1507G>A	4.37:g.38829588C>T	ENSP00000371376:p.Asp503Asn		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D503N	ENST00000381950.1	37	c.1507	CCDS3446.1	4	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712849	0.48517	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.57595	0.39;0.39	4.97	2.11	0.27256	.	0.232389	0.36268	N	0.002697	T	0.45736	0.1357	N	0.12961	0.28	0.21473	N	0.999676	P	0.38922	0.651	P	0.52267	0.694	T	0.36792	-0.9733	10	0.87932	D	0	.	8.5142	0.33235	0.0:0.719:0.1283:0.1526	.	503	Q9Y2C9	TLR6_HUMAN	N	503	ENSP00000389600:D503N;ENSP00000371376:D503N	ENSP00000371376:D503N	D	-	1	0	TLR6	38505983	0.091000	0.21658	0.998000	0.56505	0.853000	0.48598	1.325000	0.33724	1.090000	0.41315	0.484000	0.47621	GAT	TLR6	-	pirsf_Toll-like_receptor	ENSG00000174130		0.433	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR6	HGNC	protein_coding	OTTHUMT00000250431.1	-	0	74	0	C			38829588	-1	tier1	-	no_errors	ENST00000381950	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.469	T	T	38829588	C	T	38829588	3	4	95	1	0	0	0	0	1	0	0	0	16002	826	29	3	887	3	TLR6	4	38829588	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	30523643	38829588	152324688	82	27261											
CSN1S1	1446	genome.wustl.edu	37	chr4	70799939	70799939	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcacagaaacttcctCttagatacccagaacgcctt	11	13	5	12	1	2	3	1	0	1	3	3	3	3	3	3	0	3	1	3	0	4	6	rs34698344	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:70799939C>A	ENST00000246891.4	+	3	110	c.61C>A	c.(61-63)Ctt>Att	p.L21I	CSN1S1_ENST00000507772.1_Missense_Mutation_p.L21I|CSN1S1_ENST00000444405.3_Missense_Mutation_p.L21I|CSN1S1_ENST00000507763.1_Missense_Mutation_p.L21I|CSN1S1_ENST00000505782.1_Missense_Mutation_p.L21I	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	21						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)	p.L21V(1)		lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						GAAACTTCCTCTTAGATACCC	0.323																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											125	114	118					4																	70799939		1819	4072	5891	SO:0001583	missense	0			X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"casein, alpha"	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.61C>A	4.37:g.70799939C>A	ENSP00000246891:p.Leu21Ile		A1A510|A1A511|E9PB60|Q4PNR5	Missense_Mutation	SNP	NULL	p.L21I	ENST00000246891.4	37	c.61	CCDS47067.1	4	.	.	.	.	.	.	.	.	.	.	C	1.226	-0.625479	0.03610	.	.	ENSG00000126545	ENST00000246891;ENST00000444405;ENST00000354865;ENST00000507763;ENST00000507772;ENST00000505782	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	3.48	-6.01	0.02199	.	2.547120	0.01427	N	0.014603	T	0.21801	0.0525	N	0.14661	0.345	0.09310	N	1.0	B;B;B	0.29432	0.244;0.244;0.244	B;B;B	0.24848	0.056;0.056;0.056	T	0.11421	-1.0588	9	0.14252	T	0.57	0.217	0.6676	0.00853	0.2455:0.2459:0.1221:0.3865	.	21;21;21	E9PDQ1;E9PB60;P47710	.;.;CASA1_HUMAN	I	21	ENSP00000246891:L21I;ENSP00000413157:L21I;ENSP00000422611:L21I;ENSP00000427490:L21I;ENSP00000426684:L21I	ENSP00000246891:L21I	L	+	1	0	CSN1S1	70834528	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.020000	0.01441	-1.683000	0.01444	-1.054000	0.02325	CTT	CSN1S1	-	NULL	ENSG00000126545		0.323	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSN1S1	HGNC	protein_coding	OTTHUMT00000362629.1		0	43	0	C			70799939	1			no_errors	ENST00000246891	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.000	A	A	70799939	C	A	70799939	3	1	95	1	0	0	0	0	1	0	0	0	3956	913	32	3	67	3	CSN1S1	4	70799939	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	31970351	70799939	120354337	83	27262											
ADAMTS3	9508	genome.wustl.edu	37	chr4	73414399	73414399	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccccaggagctactagTtgagtgttgggctttagtcg	8	11	13	9	1	0	1	0	1	0	0	1	2	0	2	2	2	3	4	2	2	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:73414399T>G	ENST00000286657.4	-	3	336	c.300A>C	c.(298-300)caA>caC	p.Q100H	ADAMTS3_ENST00000505193.1_5'UTR	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	100					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTACTAGTTGAGTGTTGG	0.488																																					NSCLC(168;1941 2048 2918 13048 43078)												0													127	124	125					4																	73414399		2203	4300	6503	SO:0001583	missense	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"ADAM metallopeptidases with thrombospondin type 1 motif"	219	protein-coding gene	gene with protein product		605011	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.300A>C	4.37:g.73414399T>G	ENSP00000286657:p.Gln100His		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Q100H	ENST00000286657.4	37	c.300	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	T	11.36	1.616354	0.28801	.	.	ENSG00000156140	ENST00000286657	T	0.05855	3.38	5.22	-4.99	0.03010	Peptidase M12B, propeptide (1);	0.189903	0.31989	N	0.006753	T	0.02083	0.0065	N	0.05306	-0.075	0.23862	N	0.996636	B	0.02656	0.0	B	0.06405	0.002	T	0.32481	-0.9905	10	0.32370	T	0.25	.	4.4977	0.11848	0.0929:0.461:0.1948:0.2512	.	100	O15072	ATS3_HUMAN	H	100	ENSP00000286657:Q100H	ENSP00000286657:Q100H	Q	-	3	2	ADAMTS3	73633263	0.478000	0.25917	0.209000	0.23619	0.966000	0.64601	-0.229000	0.09098	-1.008000	0.03404	-0.427000	0.05922	CAA	ADAMTS3	-	pfam_Peptidase_M12B_N	ENSG00000156140		0.488	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	-	0	83	0	T			73414399	-1	tier1	-	no_errors	ENST00000286657	ensembl	human	known	74_37	missense	46.30	29	25	SNP	0.658	G	G	73414399	T	G	73414399	3	3	95	1	0	0	0	0	1	0	0	0	267	1722	60	4	3397	4	ADAMTS3	4	73414399	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	2614460	73414399	117739877	84	27263											
FRAS1	80144	genome.wustl.edu	37	chr4	79458239	79458239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaagtctatctttgtaCgggcaaggatggttatgtgc	10	12	14	5	1	2	1	0	0	2	1	2	3	2	2	0	4	2	3	0	4	5	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:79458239C>T	ENST00000264895.6	+	72	11623	c.11183C>T	c.(11182-11184)aCg>aTg	p.T3728M		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3724					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TATCTTTGTACGGGCAAGGAT	0.428																																																	0													135	131	132					4																	79458239		1834	4095	5929	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11183C>T	4.37:g.79458239C>T	ENSP00000264895:p.Thr3728Met		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.T3728M	ENST00000264895.6	37	c.11183	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975762	0.92982	.	.	ENSG00000138759	ENST00000264895	T	0.69685	-0.42	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84836	0.0805	10	0.87932	D	0	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	3728	E9PHH6	.	M	3728	ENSP00000264895:T3728M	ENSP00000264895:T3728M	T	+	2	0	FRAS1	79677263	1.000000	0.71417	0.983000	0.44433	0.964000	0.63967	7.680000	0.84062	2.810000	0.96702	0.585000	0.79938	ACG	FRAS1	-	NULL	ENSG00000138759		0.428	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding			0	60	0	C			79458239	1			no_errors	ENST00000264895	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	79458239	C	T	79458239	3	4	95	1	0	0	0	0	1	0	0	0	6066	536	19	1	11544	1	FRAS1	4	79458239	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	6043840	79458239	111696037	85	27264											
FAM190A	401145	genome.wustl.edu	37	chr4	92520052	92520052	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagagaaaccaaaggaccaAgttgctacggcccgacagca	15	5	10	11	2	0	1	0	0	0	1	0	4	0	2	3	2	4	3	3	2	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:92520052A>C	ENST00000509176.1	+	11	2835	c.2547A>C	c.(2545-2547)caA>caC	p.Q849H	CCSER1_ENST00000333691.8_Missense_Mutation_p.Q849H	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	849																	CAAAGGACCAAGTTGCTACGG	0.517																																																	0													93	83	86					4																	92520052		692	1591	2283	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2547A>C	4.37:g.92520052A>C	ENSP00000425040:p.Gln849His		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.Q849H	ENST00000509176.1	37	c.2547	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	A	6.744	0.506002	0.12883	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.32515	1.45;1.45	5.49	-5.12	0.02893	.	.	.	.	.	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22417	-1.0217	9	0.32370	T	0.25	-0.332	2.3982	0.04394	0.3461:0.2206:0.3261:0.1072	.	849	Q9C0I3	F190A_HUMAN	H	849	ENSP00000425040:Q849H;ENSP00000329482:Q849H	ENSP00000329482:Q849H	Q	+	3	2	FAM190A	92739075	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.064000	0.14437	-0.781000	0.04548	0.528000	0.53228	CAA	CCSER1	-	NULL	ENSG00000184305		0.517	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0	47	0	A	NM_001145065		92520052	1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	44.44	15	12	SNP	0.000	C	C	92520052	A	C	92520052	3	2	95	1	0	0	0	0	1	0	0	0	5540	69	3	4	2613	4	FAM190A	4	92520052	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	13061813	92520052	98634224	86	27265											
BANK1	55024	genome.wustl.edu	37	chr4	102751177	102751177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctgcttagagacctaactCcaaagaaatgtcagtttctg	12	11	8	10	0	2	2	1	0	1	2	3	3	3	2	3	0	2	2	3	0	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:102751177C>T	ENST00000322953.4	+	2	557	c.283C>T	c.(283-285)Cca>Tca	p.P95S	BANK1_ENST00000504592.1_Missense_Mutation_p.P80S|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron|BANK1_ENST00000444316.2_Missense_Mutation_p.P65S	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	95	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGACCTAACTCCAAAGAAATG	0.353																																																	0													72	74	74					4																	102751177		2203	4300	6503	SO:0001583	missense	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.283C>T	4.37:g.102751177C>T	ENSP00000320509:p.Pro95Ser		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.P95S	ENST00000322953.4	37	c.283	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029631	0.54790	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.09163	3.01;3.01;3.01	5.18	2.5	0.30297	.	0.463335	0.18019	N	0.154307	T	0.22589	0.0545	L	0.61218	1.895	0.25602	N	0.98658	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.10245	-1.0638	10	0.56958	D	0.05	.	3.1596	0.06516	0.1279:0.4827:0.2423:0.1472	.	95;80	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	S	80;95;65	ENSP00000421443:P80S;ENSP00000320509:P95S;ENSP00000388817:P65S	ENSP00000320509:P95S	P	+	1	0	BANK1	102970200	0.035000	0.19736	0.989000	0.46669	0.997000	0.91878	1.073000	0.30691	0.196000	0.20367	0.650000	0.86243	CCA	BANK1	-	NULL	ENSG00000153064		0.353	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	-	0	39	0	C	NM_017935		102751177	1	tier1	-	no_errors	ENST00000322953	ensembl	human	known	74_37	missense	50.00	15	15	SNP	0.448	T	T	102751177	C	T	102751177	3	4	95	1	0	0	0	0	1	0	0	0	1310	855	30	3	289	3	BANK1	4	102751177	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	10231125	102751177	88403099	87	27266											
ANK2	287	genome.wustl.edu	37	chr4	114262870	114262870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatagattgtcgacagaTccaggaatccgttacttttg	10	13	10	8	2	0	3	0	1	0	2	3	5	2	4	2	1	1	2	2	1	3	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:114262870T>A	ENST00000357077.4	+	33	3973	c.3920T>A	c.(3919-3921)aTc>aAc	p.I1307N	ANK2_ENST00000394537.3_Missense_Mutation_p.I1307N|ANK2_ENST00000506722.1_Missense_Mutation_p.I1298N|ANK2_ENST00000509550.1_Missense_Mutation_p.I483N|ANK2_ENST00000510275.2_5'Flank|ANK2_ENST00000264366.6_Missense_Mutation_p.I1274N|ANK2_ENST00000504887.1_3'UTR	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1307	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTCGACAGATCCAGGAATCC	0.338																																																	0													129	132	131					4																	114262870		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3920T>A	4.37:g.114262870T>A	ENSP00000349588:p.Ile1307Asn		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.I1307N	ENST00000357077.4	37	c.3920	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.97|17.97	3.517658|3.517658	0.64634|0.64634	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T	.|0.75050	.|-0.9;-0.9;-0.9;-0.9;1.62;1.62;-0.9	5.55|5.55	3.13|3.13	0.36017|0.36017	.|.	.|0.361046	.|0.22910	.|N	.|0.054144	T|T	0.79161|0.79161	0.4399|0.4399	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;P	.|0.47484	.|0.514;0.82;0.868;0.896;0.811;0.887	.|B;P;B;P;P;P	.|0.53450	.|0.199;0.467;0.381;0.66;0.726;0.595	T|T	0.77781|0.77781	-0.2459|-0.2459	5|10	.|0.87932	.|D	.|0	.|.	8.7464|8.7464	0.34589|0.34589	0.0:0.2354:0.0:0.7646|0.0:0.2354:0.0:0.7646	.|.	.|483;1274;319;1307;1307;1298	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;ANK2_HUMAN;.;.;.;.	E|N	319;1|1220;1298;353;1322;1307;1307;1274;1298;483	.|ENSP00000421011:I1220N;ENSP00000421067:I1298N;ENSP00000424722:I1322N;ENSP00000378044:I1307N;ENSP00000349588:I1307N;ENSP00000264366:I1274N;ENSP00000426944:I483N	.|ENSP00000264366:I1274N	D|I	+|+	3|2	2|0	ANK2|ANK2	114482319|114482319	0.234000|0.234000	0.23783|0.23783	0.994000|0.994000	0.49952|0.49952	0.969000|0.969000	0.65631|0.65631	0.560000|0.560000	0.23500|0.23500	0.406000|0.406000	0.25560|0.25560	0.402000|0.402000	0.26972|0.26972	GAT|ATC	ANK2	-	NULL	ENSG00000145362		0.338	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	62	0	T	NM_001148		114262870	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.978	A	A	114262870	T	A	114262870	3	1	95	1	0	0	0	0	1	0	0	0	621	1435	50	5	4115	5	ANK2	4	114262870	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	11511693	114262870	76891406	88	27267											
ANKRD50	57182	genome.wustl.edu	37	chr4	125591791	125591791	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaatatgaaagggattcGtccatcattgtcaatctcat	13	13	7	8	1	3	1	3	1	1	0	6	2	4	2	1	1	1	1	1	1	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:125591791G>A	ENST00000504087.1	-	4	3678	c.2641C>T	c.(2641-2643)Cga>Tga	p.R881*	ANKRD50_ENST00000515641.1_Nonsense_Mutation_p.R702*	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	881										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAAGGGATTCGTCCATCATTG	0.378																																																	0													157	154	155					4																	125591791		2203	4300	6503	SO:0001587	stop_gained	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2641C>T	4.37:g.125591791G>A	ENSP00000425658:p.Arg881*		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R881*	ENST00000504087.1	37	c.2641	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	G	47	13.723955	0.99759	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	.	.	.	5.41	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	14.2518	0.66026	0.0:0.0:0.7053:0.2947	.	.	.	.	X	881;702	.	ENSP00000425658:R881X	R	-	1	2	ANKRD50	125811241	1.000000	0.71417	0.105000	0.21289	0.991000	0.79684	3.120000	0.50430	1.461000	0.47929	0.561000	0.74099	CGA	ANKRD50	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151458		0.378	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0	49	0	G	NM_020337		125591791	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	nonsense	27.27	16	6	SNP	0.901	A	A	125591791	G	A	125591791	4	1	95	1	0	0	0	0	0	1	0	0	677	1153	40	1	1652	1	ANKRD50	4	125591791	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	11328921	125591791	65562485	89	27268											
TLR2	7097	genome.wustl.edu	37	chr4	154625101	154625102	+	Frame_Shift_Ins	INS	-	-	T																															cacagtagaaaacagtaaagINStttttctggttccttgttta																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:154625101_154625102insT	ENST00000260010.6	+	1	2450_2451	c.1042_1043insT	c.(1042-1044)gttfs	p.V348fs		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	348					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	AAACAGTAAAGTTTTTCTGGTT	0.317																																																	0																																										SO:0001589	frameshift_variant	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1047dupT	4.37:g.154625106_154625106dupT	ENSP00000260010:p.Val348fs		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Frame_Shift_Ins	INS	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L350fs	ENST00000260010.6	37	c.1042_1043	CCDS3784.1	4																																																																																			TLR2	-	pirsf_Toll-like_receptor	ENSG00000137462		0.317	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1		0	59	0	-			154625102	1	tier1		no_errors	ENST00000260010	ensembl	human	known	74_37	frame_shift_ins	23.33	23	7	INS	1.000:0.986	T	T	154625102	-	T	154625101	7	5	95	1	0	1	1	0	0	0	0	0	15998	1029	36	0	1044	0	TLR2	4	154625101	Frame_Shift_Ins	INS	-	TCGA-L5-A8NW-01A-11D-A37C-09	29033310	154625101	36529175	90	27269											
FGA	2243	genome.wustl.edu	37	chr4	155507473	155507473	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagaggtccagtgcccagCacttccgcgttcagagctgc	7	8	11	15	2	2	2	2	0	0	2	4	2	4	2	3	1	4	3	3	1	0	2	rs530693284		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr4:155507473C>A	ENST00000302053.3	-	5	1186	c.1108G>T	c.(1108-1110)Gct>Tct	p.A370S	FGA_ENST00000403106.3_Missense_Mutation_p.A370S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	370					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGTGCCCAGCACTTCCGCGT	0.552																																					NSCLC(143;340 1922 20892 22370 48145)												0													65	69	67					4																	155507473		2203	4299	6502	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"Fibrinogen C domain containing", "Endogenous ligands"	3661	protein-coding gene	gene with protein product		134820	"fibrinogen, A alpha polypeptide"				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1108G>T	4.37:g.155507473C>A	ENSP00000306361:p.Ala370Ser		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.A370S	ENST00000302053.3	37	c.1108	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	3.274	-0.148468	0.06627	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.82255	-1.59;-1.59	4.43	-8.86	0.00795	.	9.923110	0.00166	N	0.000003	T	0.63260	0.2496	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.58160	-0.7685	10	0.16896	T	0.51	.	0.2148	0.00160	0.3282:0.1757:0.1635:0.3326	.	370;370	P02671-2;P02671	.;FIBA_HUMAN	S	370	ENSP00000306361:A370S;ENSP00000385981:A370S	ENSP00000306361:A370S	A	-	1	0	FGA	155726923	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.228000	0.02948	-2.855000	0.00329	-0.300000	0.09419	GCT	FGA	-	NULL	ENSG00000171560		0.552	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	-	0	54	0	C	NM_000508		155507473	-1	tier1	-	no_errors	ENST00000302053	ensembl	human	known	74_37	missense	40.00	30	20	SNP	0.000	A	A	155507473	C	A	155507473	3	1	95	1	0	0	0	0	1	0	0	0	5852	710	25	3	1544	3	FGA	4	155507473	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	882372	155507473	35646803	91	27270											
CCDC127	133957	genome.wustl.edu	37	chr5	216926	216926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatccgccctggaattaggCcggatattccaatttggggg	8	10	12	11	2	0	0	0	0	0	0	2	2	2	2	5	5	0	0	5	5	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:216926C>T	ENST00000296824.3	-	2	171	c.39G>A	c.(37-39)cgG>cgA	p.R13R	CTD-2083E4.4_ENST00000565521.1_RNA|SDHA_ENST00000504309.1_5'Flank|SDHA_ENST00000510361.1_5'Flank|SDHA_ENST00000264932.6_5'Flank	NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	13										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			TGGAATTAGGCCGGATATTCC	0.393																																																	0													28	26	26					5																	216926		2200	4275	6475	SO:0001819	synonymous_variant	0			AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.39G>A	5.37:g.216926C>T				Silent	SNP	NULL	p.R13	ENST00000296824.3	37	c.39	CCDS3852.1	5																																																																																			CCDC127	-	NULL	ENSG00000164366		0.393	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC127	HGNC	protein_coding	OTTHUMT00000365459.2	-	0	49	0	C	NM_145265		216926	-1	tier1	-	no_errors	ENST00000296824	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.978	T	T	216926	C	T	216926	2	4	95	1	0	0	0	0	0	0	0	1	2770	726	26	3		3	CCDC127	5	216926	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09		216926	180698334	92	27271											
SLC12A7	10723	genome.wustl.edu	37	chr5	1065587	1065587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgctcattagggaccGtatgttctgcgggagacagg	7	11	14	9	2	3	1	1	0	2	1	3	3	3	2	1	3	2	3	1	3	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:1065587G>A	ENST00000264930.5	-	18	2291	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	MIR4635_ENST00000583759.1_RNA	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	750					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATTAGGGACCGTATGTTCTGC	0.642																																																	0													46	46	46					5																	1065587		2203	4300	6503	SO:0001583	missense	0			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"Solute carriers"	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2248C>T	5.37:g.1065587G>A	ENSP00000264930:p.Arg750Trp		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R750W	ENST00000264930.5	37	c.2248	CCDS34129.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.66|12.66	2.004241|2.004241	0.35320|0.35320	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000264930|ENST00000513223	D|.	0.92911|.	-3.13|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	0.071090|.	0.64402|.	D|.	0.000017|.	T|T	0.71779|0.71779	0.3380|0.3380	M|M	0.73962|0.73962	2.25|2.25	0.41225|0.41225	D|D	0.986537|0.986537	D|.	0.76494|.	0.999|.	P|.	0.58172|.	0.834|.	T|T	0.73291|0.73291	-0.4029|-0.4029	10|5	0.87932|.	D|.	0|.	.|.	11.8435|11.8435	0.52368|0.52368	0.0:0.0:0.8241:0.1759|0.0:0.0:0.8241:0.1759	.|.	750|.	Q9Y666|.	S12A7_HUMAN|.	W|M	750|107	ENSP00000264930:R750W|.	ENSP00000264930:R750W|.	R|T	-|-	1|2	2|0	SLC12A7|SLC12A7	1118587|1118587	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.056000|0.056000	0.15407|0.15407	2.862000|2.862000	0.48388|0.48388	2.055000|2.055000	0.61198|0.61198	0.467000|0.467000	0.42956|0.42956	CGG|ACG	SLC12A7	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000113504		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	-	0	52	0	G	NM_006598		1065587	-1	tier1	-	no_errors	ENST00000264930	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.987	A	A	1065587	G	A	1065587	3	1	95	1	0	0	0	0	1	0	0	0	14433	1144	40	1	1031	1	SLC12A7	5	1065587	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	848661	1065587	179849673	93	27272											
PRDM9	56979	genome.wustl.edu	37	chr5	23526579	23526579	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatcaaagaaaggtccaAactcttgaataaaaggacat	20	7	8	6	0	2	3	1	1	1	2	3	5	3	4	1	2	1	0	1	2	6	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:23526579A>T	ENST00000296682.3	+	11	1564	c.1382A>T	c.(1381-1383)aAa>aTa	p.K461I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	461					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAAAGGTCCAAACTCTTGAAT	0.463										HNSCC(3;0.000094)																																							0													41	43	42					5																	23526579		2202	4298	6500	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1382A>T	5.37:g.23526579A>T	ENSP00000296682:p.Lys461Ile		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K461I	ENST00000296682.3	37	c.1382	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	A	10.67	1.415134	0.25552	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.10192	2.9	2.71	1.5	0.22942	.	0.633782	0.13062	N	0.416830	T	0.13114	0.0318	L	0.46157	1.445	0.19775	N	0.999952	D	0.56968	0.978	P	0.52267	0.694	T	0.15925	-1.0420	10	0.45353	T	0.12	-1.3026	2.3409	0.04260	0.6128:0.0:0.1452:0.242	.	461	Q9NQV7	PRDM9_HUMAN	I	461;255	ENSP00000296682:K461I	ENSP00000253473:K255I	K	+	2	0	PRDM9	23562336	0.000000	0.05858	0.016000	0.15963	0.051000	0.14879	0.455000	0.21843	0.414000	0.25790	0.413000	0.27773	AAA	PRDM9	-	NULL	ENSG00000164256		0.463	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	73	0	A	NM_020227		23526579	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	12.04	95	13	SNP	0.523	T	T	23526579	A	T	23526579	3	4	95	1	0	0	0	0	1	0	0	0	12505	14	1	5	1420	5	PRDM9	5	23526579	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	22460992	23526579	157388681	94	27273											
CDH9	1007	genome.wustl.edu	37	chr5	26881552	26881552	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcattacatcccgtctaAgtttactgtcttctcttgcc	7	15	6	13	1	3	0	0	0	3	0	5	0	4	0	2	1	3	2	2	1	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:26881552A>C	ENST00000231021.4	-	12	2235	c.2063T>G	c.(2062-2064)cTt>cGt	p.L688R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	688					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCCCGTCTAAGTTTACTGTC	0.408																																					Melanoma(8;187 585 15745 40864 52829)												0													192	184	187					5																	26881552		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"Cadherins / Major cadherins"	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2063T>G	5.37:g.26881552A>C	ENSP00000231021:p.Leu688Arg		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L688R	ENST00000231021.4	37	c.2063	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	A	12.73	2.024784	0.35701	.	.	ENSG00000113100	ENST00000231021	T	0.76839	-1.05	4.96	3.76	0.43208	Cadherin, cytoplasmic domain (1);	0.334872	0.32357	N	0.006216	T	0.75317	0.3833	L	0.42632	1.34	0.40977	D	0.984746	B;B	0.28783	0.222;0.003	B;B	0.42593	0.392;0.05	T	0.68739	-0.5329	9	.	.	.	.	10.9095	0.47099	0.842:0.1579:0.0:0.0	.	281;688	B4DFP0;Q9ULB4	.;CADH9_HUMAN	R	688	ENSP00000231021:L688R	.	L	-	2	0	CDH9	26917309	1.000000	0.71417	0.953000	0.39169	0.966000	0.64601	5.823000	0.69272	0.800000	0.34041	0.455000	0.32223	CTT	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0	52	0	A	NM_016279		26881552	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	28.00	54	21	SNP	0.998	C	C	26881552	A	C	26881552	3	2	95	1	0	0	0	0	1	0	0	0	3124	72	3	4	310	4	CDH9	5	26881552	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	3354973	26881552	154033708	95	27274											
RANBP3L	202151	genome.wustl.edu	37	chr5	36269493	36269493	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaaggctatacataccTccctgggactgagaatctgt	11	10	9	11	0	2	1	1	1	1	1	3	3	3	2	2	2	2	1	2	2	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:36269493T>A	ENST00000296604.3	-	4	752	c.267A>T	c.(265-267)ggA>ggT	p.G89G	RANBP3L_ENST00000515759.1_Splice_Site_p.G89G|RANBP3L_ENST00000502994.1_Splice_Site_p.G89G	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	89					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TATACATACCTCCCTGGGACT	0.363																																																	0													102	99	100					5																	36269493		2203	4300	6503	SO:0001630	splice_region_variant	0			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.268+1A>T	5.37:g.36269493T>A			B7Z866|E9PGP9|Q96LK2	Silent	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.G89	ENST00000296604.3	37	c.267	CCDS3918.1	5																																																																																			RANBP3L	-	NULL	ENSG00000164188		0.363	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	-	0	92	0	T	NM_145000	Silent	36269493	-1	tier1	-	no_errors	ENST00000296604	ensembl	human	known	74_37	silent	41.57	52	37	SNP	0.999	A	A	36269493	T	A	36269493	5	1	95	1	0	0	0	0	0	0	1	0	13075	1565	54	5	1253	5	RANBP3L	5	36269493	Splice_Site	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	9387941	36269493	144645767	96	27275											
C5orf42	65250	genome.wustl.edu	37	chr5	37206493	37206493	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaacaacactggccaccttAgagtgttgcagaggaataag	14	8	10	9	0	0	2	0	0	0	2	0	3	0	3	2	2	3	2	2	2	5	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:37206493A>G	ENST00000508244.1	-	16	3048	c.2955T>C	c.(2953-2955)tcT>tcC	p.S985S	C5orf42_ENST00000425232.2_Silent_p.S985S|C5orf42_ENST00000274258.7_5'UTR			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	985						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGCCACCTTAGAGTGTTGCA	0.398																																																	0													100	81	87					5																	37206493		692	1591	2283	SO:0001819	synonymous_variant	0				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2955T>C	5.37:g.37206493A>G			A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	superfamily_Quino_amine_DH_bsu	p.S985	ENST00000508244.1	37	c.2955	CCDS34146.2	5																																																																																			C5orf42	-	NULL	ENSG00000197603		0.398	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	-	0	53	0	A	NM_023073		37206493	-1	tier1	-	no_errors	ENST00000425232	ensembl	human	known	74_37	silent	15.28	61	11	SNP	0.901	G	G	37206493	A	G	37206493	2	3	95	1	0	0	0	0	0	0	0	1	2308	407	15	4		4	C5orf42	5	37206493	Silent	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	937000	37206493	143708767	97	27276											
CENPK	64105	genome.wustl.edu	37	chr5	64814371	64814371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggcaattccattacgCagcagcagctcaacataagg	14	7	8	12	1	2	0	2	0	0	0	3	0	3	0	1	2	5	5	1	2	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:64814371C>T	ENST00000396679.1	-	11	955	c.741G>A	c.(739-741)ctG>ctA	p.L247L	CENPK_ENST00000508421.1_Silent_p.L217L|CENPK_ENST00000510693.1_Silent_p.L184L|CENPK_ENST00000242872.3_Silent_p.L247L|CENPK_ENST00000506282.2_5'Flank|CENPK_ENST00000514814.1_Silent_p.L247L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	247					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TTCCATTACGCAGCAGCAGCT	0.353																																																	0													109	107	107					5																	64814371		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.741G>A	5.37:g.64814371C>T			Q9H4L0	Silent	SNP	pfam_Centromere_CenpK,superfamily_Prefoldin	p.L247	ENST00000396679.1	37	c.741	CCDS3984.1	5																																																																																			CENPK	-	pfam_Centromere_CenpK	ENSG00000123219		0.353	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPK	HGNC	protein_coding	OTTHUMT00000253971.2	-	0	50	0	C	NM_022145		64814371	-1	tier1	-	no_errors	ENST00000242872	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.998	T	T	64814371	C	T	64814371	2	4	95	1	0	0	0	0	0	0	0	1	3242	697	25	3		3	CENPK	5	64814371	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	27607878	64814371	116100889	98	27277											
ENC1	8507	genome.wustl.edu	37	chr5	73930815	73930815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcagagaattctgtatcaCcccccataataaaaatctgg	15	9	7	10	0	3	1	1	0	2	1	3	2	3	1	3	2	0	2	3	2	6	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:73930815C>T	ENST00000302351.4	-	2	2626	c.1496G>A	c.(1495-1497)gGt>gAt	p.G499D	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.G426D|ENC1_ENST00000537006.1_Missense_Mutation_p.G499D	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	499				YTAAAVLGNQIFIMGGDTEFSACSAYKFNSETYQWTKVGDV TAKRMSCHAVASGNKLYVVGGYFGIQRCKTLDCYDPTLDVW NSITTVPYSLIPTAFVSTWKHLPS -> IHSQASCPGGTQD FLLWGVIQNFSACFCL (in Ref. 1; AAC39532). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TTCTGTATCACCCCCCATAAT	0.517																																																	0													68	76	73					5																	73930815		2203	4300	6503	SO:0001583	missense	0			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1496G>A	5.37:g.73930815C>T	ENSP00000306356:p.Gly499Asp		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G499D	ENST00000302351.4	37	c.1496	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026400	0.75390	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	D;D;D	0.99494	-6.01;-6.01;-6.01	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	M	0.89163	3.01	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98292	1.0514	10	0.87932	D	0	.	20.0212	0.97504	0.0:1.0:0.0:0.0	.	499	O14682	ENC1_HUMAN	D	499;426;499	ENSP00000306356:G499D;ENSP00000423804:G426D;ENSP00000446289:G499D	ENSP00000306356:G499D	G	-	2	0	ENC1	73966571	1.000000	0.71417	0.778000	0.31720	0.933000	0.57130	7.818000	0.86416	2.735000	0.93741	0.561000	0.74099	GGT	ENC1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000171617		0.517	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	-	0	31	0	C	NM_003633		73930815	-1	tier1	-	no_errors	ENST00000302351	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	T	T	73930815	C	T	73930815	3	4	95	1	0	0	0	0	1	0	0	0	5129	507	18	3	277	3	ENC1	5	73930815	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	9116444	73930815	106984445	99	27278											
ERAP2	64167	genome.wustl.edu	37	chr5	96222452	96222452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagcctacatagtttgtGatttccactctctgagtggc	7	16	9	9	0	1	2	0	2	1	0	3	2	2	2	2	1	2	2	2	1	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:96222452G>A	ENST00000437043.3	+	4	1519	c.808G>A	c.(808-810)Gat>Aat	p.D270N	ERAP2_ENST00000510309.1_Missense_Mutation_p.D270N|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	270					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CATAGTTTGTGATTTCCACTC	0.413																																																	0													144	141	142					5																	96222452		2203	4300	6503	SO:0001583	missense	0			AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"leukocyte-derived arginine aminopeptidase"	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.808G>A	5.37:g.96222452G>A	ENSP00000400376:p.Asp270Asn		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D270N	ENST00000437043.3	37	c.808	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612641	0.87258	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000510309	T;T;T;T	0.06528	3.29;3.29;3.29;3.29	5.1	5.1	0.69264	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	M	0.66560	2.04	0.45515	D	0.998475	P	0.45212	0.853	P	0.58266	0.836	T	0.00045	-1.2218	10	0.51188	T	0.08	.	9.9945	0.41891	0.0931:0.0:0.9069:0.0	.	270	Q6P179	ERAP2_HUMAN	N	270	ENSP00000400376:D270N;ENSP00000421175:D270N;ENSP00000421849:D270N;ENSP00000425758:D270N	ENSP00000400376:D270N	D	+	1	0	ERAP2	96248208	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.499000	0.60380	2.542000	0.85734	0.563000	0.77884	GAT	ERAP2	-	pfam_Peptidase_M1_N	ENSG00000164308		0.413	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	HGNC	protein_coding	OTTHUMT00000250623.2	-	0	50	0	G	NM_022350		96222452	1	tier1	-	no_errors	ENST00000437043	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	A	A	96222452	G	A	96222452	3	1	95	1	0	0	0	0	1	0	0	0	5220	1290	45	3	818	3	ERAP2	5	96222452	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	22291637	96222452	84692808	100	27279											
SLCO4C1	353189	genome.wustl.edu	37	chr5	101572654	101572654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgacacatctgtggctgAtggaggtggtttatacaaaa	14	11	11	5	0	1	2	0	2	1	0	1	3	1	3	0	4	1	2	0	4	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:101572654A>G	ENST00000310954.6	-	13	2369	c.2083T>C	c.(2083-2085)Tca>Cca	p.S695P		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TCTGTGGCTGATGGAGGTGGT	0.333																																																	0													114	109	111					5																	101572654		2203	4300	6503	SO:0001583	missense	0			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.2083T>C	5.37:g.101572654A>G	ENSP00000309741:p.Ser695Pro			Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S695P	ENST00000310954.6	37	c.2083	CCDS34205.1	5	.	.	.	.	.	.	.	.	.	.	A	0.356	-0.942205	0.02322	.	.	ENSG00000173930	ENST00000310954	T	0.39592	1.07	5.08	-2.07	0.07276	.	2.644460	0.01317	N	0.010810	T	0.28699	0.0711	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	10	0.30854	T	0.27	.	6.4929	0.22125	0.5507:0.1263:0.323:0.0	.	695	Q6ZQN7	SO4C1_HUMAN	P	695	ENSP00000309741:S695P	ENSP00000309741:S695P	S	-	1	0	SLCO4C1	101600553	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.457000	0.06745	-0.905000	0.03871	-2.096000	0.00365	TCA	SLCO4C1	-	NULL	ENSG00000173930		0.333	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	-	0	79	0	A	NM_180991		101572654	-1	tier1	-	no_errors	ENST00000310954	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.001	G	G	101572654	A	G	101572654	3	3	95	1	0	0	0	0	1	0	0	0	14775	333	12	4	95	4	SLCO4C1	5	101572654	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	5350202	101572654	79342606	101	27280											
FBN2	2201	genome.wustl.edu	37	chr5	127595297	127595297	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgtgtatgtgccgggcatGagcttcttcttggccgtgtg	4	14	15	8	2	2	1	0	1	2	0	2	1	2	1	2	2	2	3	2	2	1	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:127595297G>C	ENST00000508053.1	-	71	9563	c.8589C>G	c.(8587-8589)ctC>ctG	p.L2863L	FBN2_ENST00000262464.4_Silent_p.L2863L			P35556	FBN2_HUMAN	fibrillin 2	2863					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCCGGGCATGAGCTTCTTCT	0.498																																																	0													236	209	218					5																	127595297		2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8589C>G	5.37:g.127595297G>C			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.L2863	ENST00000508053.1	37	c.8589	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,superfamily_Cadherin-like	ENSG00000138829		0.498	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0	70	0	G	NM_001999		127595297	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	20.69	46	12	SNP	0.000	C	C	127595297	G	C	127595297	2	2	95	1	0	0	0	0	0	0	0	1	5725	1277	45	5		5	FBN2	5	127595297	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	26022643	127595297	53319963	102	27281											
PHF15	23338	genome.wustl.edu	37	chr5	133887749	133887749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccctcacaggttttccGgacagacttgatcacagcca	9	10	8	14	1	2	2	2	1	0	1	3	3	3	3	4	2	2	1	4	2	0	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:133887749G>A	ENST00000402835.1	+	4	416	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	PHF15_ENST00000361895.2_Missense_Mutation_p.R54Q|PHF15_ENST00000395003.1_Missense_Mutation_p.R54Q|PHF15_ENST00000282605.4_Missense_Mutation_p.R54Q																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGTTTTCCGGACAGACTTG	0.552																																																	0													92	91	92					5																	133887749		2203	4300	6503	SO:0001583	missense	0																														ENST00000402835.1:c.161G>A	5.37:g.133887749G>A	ENSP00000384671:p.Arg54Gln			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R54Q	ENST00000402835.1	37	c.161		5	.	.	.	.	.	.	.	.	.	.	G	34	5.397130	0.96009	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	4.98	4.98	0.66077	Enhancer of polycomb-like, N-terminal (1);	0.121992	0.56097	D	0.000034	T	0.73628	0.3611	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.73708	0.981;0.972;0.981;0.946;0.981	T	0.78638	-0.2126	10	0.87932	D	0	.	18.8173	0.92081	0.0:0.0:1.0:0.0	.	54;54;54;54;70	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	Q	54;54;70;54;54;54;54;54;54	ENSP00000422991:R54Q;ENSP00000282605:R54Q;ENSP00000354425:R54Q;ENSP00000384671:R54Q;ENSP00000378451:R54Q;ENSP00000406189:R54Q	ENSP00000282605:R54Q	R	+	2	0	PHF15	133915648	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.353000	0.79414	2.746000	0.94184	0.655000	0.94253	CGG	PHF15	-	pfam_Enhancer_polycomb-like_N	ENSG00000043143		0.552	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	-	0	51	0	G			133887749	1	tier1	-	no_errors	ENST00000395003	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	A	A	133887749	G	A	133887749	3	1	95	1	0	0	0	0	1	0	0	0	11865	1116	39	1	171	1	PHF15	5	133887749	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	6292452	133887749	47027511	103	27282											
PCDHA3	56145	genome.wustl.edu	37	chr5	140182828	140182828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggcctcgtcccaggcGtccgctggcgccacgggccc	4	4	13	20	5	0	0	0	0	0	0	3	0	2	0	6	4	0	1	6	4	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140182828G>A	ENST00000522353.2	+	1	2046	c.2046G>A	c.(2044-2046)gcG>gcA	p.A682A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.A682A	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	682					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCCCAGGCGTCCGCTGGCG	0.647																																																	0													50	52	51					5																	140182828		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2046G>A	5.37:g.140182828G>A			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A682	ENST00000522353.2	37	c.2046	CCDS54915.1	5																																																																																			PCDHA3	-	NULL	ENSG00000255408		0.647	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0	99	0	G	NM_018906		140182828	1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	silent	27.69	47	18	SNP	0.000	A	A	140182828	G	A	140182828	2	1	95	1	0	0	0	0	0	0	0	1	11564	1132	40	1		1	PCDHA3	5	140182828	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	6295079	140182828	40732432	104	27283											
PCDHB4	56131	genome.wustl.edu	37	chr5	140503257	140503257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacgacaactcgcccttCgtgctgtacccgctgcagaa	10	7	8	16	4	0	1	0	0	0	1	2	2	0	1	3	0	5	4	3	0	4	2	rs553336245		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140503257C>A	ENST00000194152.1	+	1	1677	c.1677C>A	c.(1675-1677)ttC>ttA	p.F559L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	559	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCCCTTCGTGCTGTACC	0.701																																																	0													27	30	29					5																	140503257		2195	4285	6480	SO:0001583	missense	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1677C>A	5.37:g.140503257C>A	ENSP00000194152:p.Phe559Leu		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F559L	ENST00000194152.1	37	c.1677	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033206	0.35893	.	.	ENSG00000081818	ENST00000194152	T	0.01538	4.79	3.77	2.88	0.33553	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.00875	0.0029	N	0.10916	0.065	0.31194	N	0.700545	P	0.47106	0.89	B	0.38842	0.283	T	0.17715	-1.0360	9	0.07175	T	0.84	.	4.7435	0.13026	0.1946:0.6326:0.0:0.1727	.	559	Q9Y5E5	PCDB4_HUMAN	L	559	ENSP00000194152:F559L	ENSP00000194152:F559L	F	+	3	2	PCDHB4	140483441	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-2.013000	0.01450	2.117000	0.64856	0.485000	0.47835	TTC	PCDHB4	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000081818		0.701	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0	187	0	C	NM_018938		140503257	1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	missense	34.83	116	62	SNP	0.969	A	A	140503257	C	A	140503257	3	1	95	1	0	0	0	0	1	0	0	0	11583	883	31	2	1679	2	PCDHB4	5	140503257	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	320429	140503257	40412003	105	27284											
PCDHB12	56124	genome.wustl.edu	37	chr5	140589171	140589171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgccttggtcagggtggTggttgtagatattaatgaca	10	13	13	5	0	1	2	1	1	0	1	1	2	1	2	1	4	2	2	1	4	4	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140589171T>C	ENST00000239450.2	+	1	881	c.692T>C	c.(691-693)gTg>gCg	p.V231A	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCAGGGTGGTGGTTGTAGAT	0.532																																																	0													96	97	96					5																	140589171		2203	4300	6503	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.692T>C	5.37:g.140589171T>C	ENSP00000239450:p.Val231Ala		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V231A	ENST00000239450.2	37	c.692	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.758124	0.00657	.	.	ENSG00000120328	ENST00000239450	T	0.00958	5.5	4.15	-0.0183	0.13965	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01353	0.0044	M	0.64080	1.96	0.09310	N	1	B	0.22211	0.066	B	0.32928	0.155	T	0.47381	-0.9122	9	0.16420	T	0.52	.	5.3443	0.16000	0.4867:0.0845:0.0:0.4287	.	231	Q9Y5F1	PCDBC_HUMAN	A	231	ENSP00000239450:V231A	ENSP00000239450:V231A	V	+	2	0	PCDHB12	140569355	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.334000	0.07883	-0.185000	0.10550	0.397000	0.26171	GTG	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120328		0.532	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0	49	0	T	NM_018932		140589171	1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.000	C	C	140589171	T	C	140589171	3	2	95	1	0	0	0	0	1	0	0	0	11576	1696	59	4	694	4	PCDHB12	5	140589171	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	85914	140589171	40326089	106	27285											
PCDHB15	56121	genome.wustl.edu	37	chr5	140626975	140626975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagctgctcaaggccaCggagcccgggctgttcggcg	6	6	15	14	4	1	0	1	0	0	0	2	1	1	1	3	4	4	5	3	4	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:140626975C>A	ENST00000231173.3	+	1	1829	c.1829C>A	c.(1828-1830)aCg>aAg	p.T610K		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	610	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAAGGCCACGGAGCCCGGG	0.716																																																	0													15	17	16					5																	140626975		1993	3961	5954	SO:0001583	missense	0			AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"Cadherins / Protocadherins : Clustered"	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.1829C>A	5.37:g.140626975C>A	ENSP00000231173:p.Thr610Lys		Q8IUX5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T610K	ENST00000231173.3	37	c.1829	CCDS4257.1	5	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739135	0.69304	.	.	ENSG00000113248	ENST00000231173	T	0.50548	0.74	4.11	3.21	0.36854	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64843	0.2635	M	0.78223	2.4	0.37953	D	0.932723	D	0.55800	0.973	P	0.59948	0.866	T	0.73360	-0.4007	9	0.87932	D	0	.	13.4979	0.61436	0.0:0.8414:0.1586:0.0	.	610	Q9Y5E8	PCDBF_HUMAN	K	610	ENSP00000231173:T610K	ENSP00000231173:T610K	T	+	2	0	PCDHB15	140607159	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.284000	0.18864	0.823000	0.34589	0.549000	0.68633	ACG	PCDHB15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113248		0.716	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB15	HGNC	protein_coding	OTTHUMT00000251804.2	-	0	129	0	C	NM_018935		140626975	1	tier1	-	no_errors	ENST00000231173	ensembl	human	known	74_37	missense	26.61	90	33	SNP	1.000	A	A	140626975	C	A	140626975	3	1	95	1	0	0	0	0	1	0	0	0	11579	536	19	2	1831	2	PCDHB15	5	140626975	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	37804	140626975	40288285	107	27286											
TIGD6	81789	genome.wustl.edu	37	chr5	149375696	149375696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgtcatcataaagagcGctcctcatccttttccgctg	9	13	6	13	2	4	1	4	0	0	1	7	1	7	1	3	0	1	2	3	0	3	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:149375696G>A	ENST00000296736.3	-	2	990	c.216C>T	c.(214-216)agC>agT	p.S72S	TIGD6_ENST00000515406.2_Silent_p.S72S	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	72	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CATAAAGAGCGCTCCTCATCC	0.438																																																	0													124	125	124					5																	149375696		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.216C>T	5.37:g.149375696G>A			B3KTZ8|Q96MQ4|Q9H0X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.S72	ENST00000296736.3	37	c.216	CCDS4301.1	5																																																																																			TIGD6	-	superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom	ENSG00000164296		0.438	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1	-	0	38	0	G	NM_030953		149375696	-1	tier1	-	no_errors	ENST00000296736	ensembl	human	known	74_37	silent	35.71	18	10	SNP	0.047	A	A	149375696	G	A	149375696	2	1	95	1	0	0	0	0	0	0	0	1	15947	1078	38	1		1	TIGD6	5	149375696	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	8748721	149375696	31539564	108	27287											
NDST1	3340	genome.wustl.edu	37	chr5	149919713	149919713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtacaccttcaagcacCtggtgcgcttcctgcactcc	6	10	8	17	1	1	0	1	0	0	0	3	0	3	0	5	1	4	4	5	1	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:149919713C>G	ENST00000261797.6	+	8	2138	c.1636C>G	c.(1636-1638)Ctg>Gtg	p.L546V	NDST1_ENST00000523767.1_Missense_Mutation_p.L546V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	546	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAAGCACCTGGTGCGCTT	0.597																																																	0													102	87	92					5																	149919713		2203	4300	6503	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"Sulfotransferases, membrane-bound"	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1636C>G	5.37:g.149919713C>G	ENSP00000261797:p.Leu546Val		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L546V	ENST00000261797.6	37	c.1636	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924717	0.52653	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.46063	0.88;1.22	5.37	3.54	0.40534	.	0.065354	0.64402	D	0.000005	T	0.48370	0.1496	L	0.42744	1.35	0.53005	D	0.999969	D;D	0.89917	1.0;0.987	D;P	0.87578	0.998;0.795	T	0.41858	-0.9485	10	0.11182	T	0.66	.	8.7336	0.34514	0.1316:0.7417:0.0:0.1267	.	546;546	E7EVJ3;P52848	.;NDST1_HUMAN	V	546	ENSP00000428604:L546V;ENSP00000261797:L546V	ENSP00000261797:L546V	L	+	1	2	NDST1	149899906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.899000	0.63245	1.361000	0.45981	0.563000	0.77884	CTG	NDST1	-	NULL	ENSG00000070614		0.597	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0	37	0	C	NM_001543		149919713	1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	53.33	14	16	SNP	1.000	G	G	149919713	C	G	149919713	3	3	95	1	0	0	0	0	1	0	0	0	10294	680	24	5	1662	5	NDST1	5	149919713	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	544017	149919713	30995547	109	27288											
FAT2	2196	genome.wustl.edu	37	chr5	150921908	150921908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccagggtctttagaGtcgccaccagttcgccaggc	8	8	11	14	2	1	1	0	0	1	1	4	1	2	1	4	2	1	2	4	2	1	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:150921908G>T	ENST00000261800.5	-	9	8792	c.8780C>A	c.(8779-8781)aCt>aAt	p.T2927N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2927	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCTTTAGAGTCGCCACCAG	0.502																																																	0													150	145	147					5																	150921908		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8780C>A	5.37:g.150921908G>T	ENSP00000261800:p.Thr2927Asn		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.T2927N	ENST00000261800.5	37	c.8780	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682988	0.47991	.	.	ENSG00000086570	ENST00000261800	T	0.02944	4.1	6.05	5.18	0.71444	Cadherin (3);Cadherin-like (1);	0.088595	0.49305	D	0.000159	T	0.09818	0.0241	L	0.59967	1.855	0.42656	D	0.993463	D	0.76494	0.999	D	0.70487	0.969	T	0.39643	-0.9604	10	0.18710	T	0.47	.	11.2657	0.49110	0.1389:0.0:0.8611:0.0	.	2927	Q9NYQ8	FAT2_HUMAN	N	2927	ENSP00000261800:T2927N	ENSP00000261800:T2927N	T	-	2	0	FAT2	150902101	1.000000	0.71417	0.036000	0.18154	0.291000	0.27294	3.893000	0.56243	1.561000	0.49584	0.650000	0.86243	ACT	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000086570		0.502	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1		0	23	0	G	NM_001447		150921908	-1			no_errors	ENST00000261800	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.889	T	T	150921908	G	T	150921908	3	4	95	1	0	0	0	0	1	0	0	0	5712	1029	36	3	4329	3	FAT2	5	150921908	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1002195	150921908	29993352	110	27289											
C5orf4	10826	genome.wustl.edu	37	chr5	154210421	154210421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttaggttttcctgttgtGtcaaccaccaatagaagccc	11	12	8	10	0	1	1	1	0	0	1	2	1	2	1	4	1	2	3	4	1	6	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:154210421G>T	ENST00000326080.5	-	5	729	c.306C>A	c.(304-306)gaC>gaA	p.D102E	FAXDC2_ENST00000517938.1_Missense_Mutation_p.D79E|FAXDC2_ENST00000520968.1_Intron|MIR378H_ENST00000579966.1_RNA|FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000518651.1_Missense_Mutation_p.D79E	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	102					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										TTCCTGTTGTGTCAACCACCA	0.473																																																	0													111	107	108					5																	154210421		1960	4157	6117	SO:0001583	missense	0			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"Fatty acid hydroxylase domain containing"	1334	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 4"	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.306C>A	5.37:g.154210421G>T	ENSP00000320604:p.Asp102Glu		B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.D102E	ENST00000326080.5	37	c.306	CCDS43390.1	5	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791276	0.50102	.	.	ENSG00000170271	ENST00000326080;ENST00000517938;ENST00000519501;ENST00000518651	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.97	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.71643	0.3364	M	0.90650	3.135	0.80722	D	1	D	0.56968	0.978	D	0.63703	0.917	T	0.71639	-0.4532	10	0.51188	T	0.08	.	8.4279	0.32739	0.301:0.0:0.699:0.0	.	102	Q96IV6	CE004_HUMAN	E	102;79;79;79	ENSP00000320604:D102E;ENSP00000430286:D79E;ENSP00000429837:D79E;ENSP00000429876:D79E	ENSP00000320604:D102E	D	-	3	2	C5orf4	154190614	1.000000	0.71417	0.169000	0.22859	0.193000	0.23685	3.011000	0.49567	0.517000	0.28361	-0.137000	0.14449	GAC	FAXDC2	-	NULL	ENSG00000170271		0.473	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXDC2	HGNC	protein_coding	OTTHUMT00000377429.1	-	0	44	0	G	NM_032385		154210421	-1	tier1	-	no_errors	ENST00000326080	ensembl	human	known	74_37	missense	8.00	45	4	SNP	0.992	T	T	154210421	G	T	154210421	3	4	95	1	0	0	0	0	1	0	0	0	2305	1368	48	3	715	3	C5orf4	5	154210421	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	3288513	154210421	26704839	111	27290											
CYFIP2	26999	genome.wustl.edu	37	chr5	156734794	156734794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttggcctctacctaaTggatggaaatgtcagtaaca	11	11	11	8	0	2	0	1	0	1	0	2	2	2	2	2	4	2	2	2	4	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:156734794T>C	ENST00000521420.1	+	8	834	c.743T>C	c.(742-744)aTg>aCg	p.M248T	CYFIP2_ENST00000522463.1_Missense_Mutation_p.M78T|CYFIP2_ENST00000347377.6_Missense_Mutation_p.M274T|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M274T|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M199T|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M274T|CYFIP2_ENST00000442283.2_5'UTR					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTACCTAATGGATGGAAAT	0.398																																																	0													56	54	55					5																	156734794		1860	4102	5962	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"p53 inducible protein"	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.743T>C	5.37:g.156734794T>C	ENSP00000430904:p.Met248Thr			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.M274T	ENST00000521420.1	37	c.821		5	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178420	0.57692	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.40476	1.03;1.98;1.03;1.03;1.03;1.03	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.62723	1.935	0.80722	D	1	B;B;B;P;B;B	0.48764	0.452;0.415;0.04;0.915;0.409;0.018	B;B;B;B;B;B	0.39971	0.315;0.206;0.021;0.3;0.287;0.184	T	0.50866	-0.8777	10	0.66056	D	0.02	-34.2025	15.6034	0.76642	0.0:0.0:0.0:1.0	.	138;78;248;274;274;274	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	T	274;78;248;274;274;199	ENSP00000325817:M274T;ENSP00000428009:M78T;ENSP00000430904:M248T;ENSP00000313567:M274T;ENSP00000366799:M274T;ENSP00000444645:M199T	ENSP00000325817:M274T	M	+	2	0	CYFIP2	156667372	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.997000	0.88414	2.094000	0.63399	0.459000	0.35465	ATG	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	ENSG00000055163		0.398	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	-	0	76	0	T	NM_001037332		156734794	1	tier1	-	no_errors	ENST00000318218	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	C	C	156734794	T	C	156734794	3	2	95	1	0	0	0	0	1	0	0	0	4147	1464	51	4	851	4	CYFIP2	5	156734794	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	2524373	156734794	24180466	112	27291											
PWWP2A	114825	genome.wustl.edu	37	chr5	159546081	159546081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggccctccctgaggcgcGgctgccgccgactccgccac	3	5	12	21	6	0	1	0	1	0	0	3	2	3	1	7	3	1	1	7	3	0	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:159546081G>A	ENST00000307063.7	-	1	349	c.315C>T	c.(313-315)gcC>gcT	p.A105A	PWWP2A_ENST00000523662.1_Silent_p.A105A|PWWP2A_ENST00000456329.3_Silent_p.A105A	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	105	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGAGGCGCGGCTGCCGCCG	0.766																																																	0													19	22	21					5																	159546081		1581	3526	5107	SO:0001819	synonymous_variant	0				CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.315C>T	5.37:g.159546081G>A			G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom	p.A105	ENST00000307063.7	37	c.315	CCDS47332.1	5																																																																																			PWWP2A	-	NULL	ENSG00000170234		0.766	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PWWP2A	HGNC	protein_coding	OTTHUMT00000374092.1		0	11	0	G			159546081	-1			no_errors	ENST00000307063	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.001	A	A	159546081	G	A	159546081	2	1	95	1	0	0	0	0	0	0	0	1	12890	1103	39	1		1	PWWP2A	5	159546081	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2811287	159546081	21369179	113	27292											
DOCK2	1794	genome.wustl.edu	37	chr5	169097602	169097602	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgacagttgagaaaagaagGtatttgccattcttcaccag	13	11	10	7	0	2	3	1	2	1	2	2	4	2	3	2	1	1	2	2	1	4	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:169097602G>T	ENST00000256935.8	+	4	304		c.e4+1			NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAAGAAGGTATTTGCCAT	0.378																																																	0													103	98	100					5																	169097602		2203	4300	6503	SO:0001630	splice_region_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.224+1G>T	5.37:g.169097602G>T			Q2M3I0|Q96AK7	Splice_Site	SNP	-	e4+1	ENST00000256935.8	37	c.224+1	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654126	0.88056	.	.	ENSG00000134516	ENST00000256935	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5905	0.95508	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK2	169030180	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.472000	0.90407	2.627000	0.88993	0.563000	0.77884	.	DOCK2	-	-	ENSG00000134516		0.378	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	54	0	G	NM_004946	Intron	169097602	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	splice_site	10.00	27	3	SNP	1.000	T	T	169097602	G	T	169097602	5	4	95	1	0	0	0	0	0	0	1	0	4701	1275	44	3	239	3	DOCK2	5	169097602	Splice_Site	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	9551521	169097602	11817658	114	27293											
DOCK2	1794	genome.wustl.edu	37	chr5	169506071	169506071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgaggtcaagctgcGgaggtccaagaagaggacaa	12	5	14	10	1	1	3	1	1	0	2	2	5	2	5	3	4	3	1	3	4	4	0	rs371229305		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:169506071G>A	ENST00000256935.8	+	49	5167	c.5087G>A	c.(5086-5088)cGg>cAg	p.R1696Q	DOCK2_ENST00000520908.1_Missense_Mutation_p.R1188Q|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R757Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1696					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAAGCTGCGGAGGTCCAAG	0.572																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	88	88	88		5087	4.7	0.9	5		88	0,8600		0,0,4300	no	missense	DOCK2	NM_004946.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1696/1831	169506071	1,13005	2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5087G>A	5.37:g.169506071G>A	ENSP00000256935:p.Arg1696Gln		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.R1696Q	ENST00000256935.8	37	c.5087	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	28.5	4.925589	0.92319	2.27E-4	0.0	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09723	3.65;3.26;2.95	4.72	4.72	0.59763	.	0.114391	0.56097	D	0.000024	T	0.19446	0.0467	L	0.27053	0.805	0.37226	D	0.905457	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.992;0.994;0.978	T	0.15578	-1.0432	10	0.14656	T	0.56	.	16.8865	0.86077	0.0:0.0:1.0:0.0	.	1188;252;1696	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	Q	1696;1188;757	ENSP00000256935:R1696Q;ENSP00000429283:R1188Q;ENSP00000438827:R757Q	ENSP00000256935:R1696Q	R	+	2	0	DOCK2	169438649	1.000000	0.71417	0.937000	0.37676	0.893000	0.52053	6.631000	0.74277	2.341000	0.79615	0.585000	0.79938	CGG	DOCK2	-	NULL	ENSG00000134516		0.572	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	46	0	G	NM_004946		169506071	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	21.95	32	9	SNP	0.999	A	A	169506071	G	A	169506071	3	1	95	1	0	0	0	0	1	0	0	0	4701	1116	39	1	5281	1	DOCK2	5	169506071	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	408469	169506071	11409189	115	27294											
STK10	6793	genome.wustl.edu	37	chr5	171479997	171479997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttatggctctcatccaggGccttcagtttctgggtttcg	4	15	12	10	1	3	0	2	0	2	0	6	0	4	0	2	4	0	4	2	4	1	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:171479997G>T	ENST00000176763.5	-	18	3045	c.2702C>A	c.(2701-2703)gCc>gAc	p.A901D		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	901					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCATCCAGGGCCTTCAGTTT	0.547																																																	0													111	97	102					5																	171479997		2203	4300	6503	SO:0001583	missense	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2702C>A	5.37:g.171479997G>T	ENSP00000176763:p.Ala901Asp		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A901D	ENST00000176763.5	37	c.2702	CCDS34290.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.37|14.37	2.516477|2.516477	0.44763|0.44763	.|.	.|.	ENSG00000072786|ENSG00000072786	ENST00000176763;ENST00000545839|ENST00000520476	T|.	0.67171|.	-0.25|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.497253|.	0.21178|.	N|.	0.078865|.	T|T	0.54382|0.54382	0.1855|0.1855	L|L	0.53249|0.53249	1.67|1.67	0.24985|0.24985	N|N	0.991575|0.991575	B|.	0.29936|.	0.262|.	B|.	0.29353|.	0.101|.	T|T	0.48703|0.48703	-0.9012|-0.9012	10|5	0.37606|.	T|.	0.19|.	.|.	15.4036|15.4036	0.74861|0.74861	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	901|.	O94804|.	STK10_HUMAN|.	D|T	901|174	ENSP00000176763:A901D|.	ENSP00000176763:A901D|.	A|P	-|-	2|1	0|0	STK10|STK10	171412602|171412602	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	2.911000|2.911000	0.48774|0.48774	2.312000|2.312000	0.78011|0.78011	0.555000|0.555000	0.69702|0.69702	GCC|CCC	STK10	-	NULL	ENSG00000072786		0.547	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2		0	49	0	G	NM_005990		171479997	-1			no_errors	ENST00000176763	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.976	T	T	171479997	G	T	171479997	3	4	95	1	0	0	0	0	1	0	0	0	15333	1203	42	3	212	3	STK10	5	171479997	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1973926	171479997	9435263	116	27295											
C5orf41	153222	genome.wustl.edu	37	chr5	172537685	172537685	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacagcccgaccaaggtcAaggaaggaaaaaaataagct	19	5	9	8	1	1	0	1	0	0	0	1	3	1	2	2	3	3	1	2	3	8	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:172537685A>G	ENST00000296953.2	+	6	1897	c.1578A>G	c.(1576-1578)tcA>tcG	p.S526S	CREBRF_ENST00000540014.1_Silent_p.S528S	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	526	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GACCAAGGTCAAGGAAGGAAA	0.418																																																	0													50	50	50					5																	172537685		2203	4300	6503	SO:0001819	synonymous_variant	0			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"luman/CREB3 recruitment factor"		"chromosome 5 open reading frame 41"	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1578A>G	5.37:g.172537685A>G			B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	NULL	p.S528	ENST00000296953.2	37	c.1584	CCDS34293.1	5																																																																																			CREBRF	-	NULL	ENSG00000164463		0.418	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	-	0	39	0	A	NM_153607		172537685	1	tier1	-	no_errors	ENST00000540014	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	G	G	172537685	A	G	172537685	2	3	95	1	0	0	0	0	0	0	0	1	2307	117	5	4		4	C5orf41	5	172537685	Silent	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	1057688	172537685	8377575	117	27296											
GPRIN1	114787	genome.wustl.edu	37	chr5	176024095	176024095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcccttctcgtcccagCtcacgtctcgcacgggctca	5	10	8	18	4	5	0	3	0	2	0	8	0	6	0	2	1	2	3	2	1	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:176024095C>A	ENST00000303991.4	-	2	2918	c.2741G>T	c.(2740-2742)aGc>aTc	p.S914I		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	914	Interaction with GNAO1. {ECO:0000250}.				neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGTCCCAGCTCACGTCTCG	0.716																																																	0													37	40	39					5																	176024095		1797	3432	5229	SO:0001583	missense	0			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.2741G>T	5.37:g.176024095C>A	ENSP00000305839:p.Ser914Ile		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	NULL	p.S914I	ENST00000303991.4	37	c.2741	CCDS4405.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024676	0.75390	.	.	ENSG00000169258	ENST00000303991	T	0.25579	1.79	3.9	0.564	0.17302	.	.	.	.	.	T	0.15869	0.0382	L	0.28115	0.83	0.32955	D	0.52024	P	0.40731	0.728	B	0.37451	0.25	T	0.22871	-1.0204	9	0.48119	T	0.1	-0.2281	8.4791	0.33032	0.3089:0.5413:0.1498:0.0	.	914	Q7Z2K8	GRIN1_HUMAN	I	914	ENSP00000305839:S914I	ENSP00000305839:S914I	S	-	2	0	GPRIN1	175956701	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	2.717000	0.47227	0.093000	0.17368	0.313000	0.20887	AGC	GPRIN1	-	NULL	ENSG00000169258		0.716	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1		0	15	0	C	NM_052899		176024095	-1			no_errors	ENST00000303991	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	A	A	176024095	C	A	176024095	3	1	95	1	0	0	0	0	1	0	0	0	6756	797	28	3	289	3	GPRIN1	5	176024095	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	3486410	176024095	4891165	118	27297											
ZNF454	285676	genome.wustl.edu	37	chr5	178392572	178392572	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttataaatgtaatgaatgTgggaaagctttcagggataa	15	12	10	4	0	1	1	1	1	0	0	1	3	1	3	1	2	1	2	1	2	7	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr5:178392572T>A	ENST00000320129.3	+	5	1470	c.1167T>A	c.(1165-1167)tgT>tgA	p.C389*	ZNF454_ENST00000519564.1_Nonsense_Mutation_p.C389*	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTAATGAATGTGGGAAAGCTT	0.418																																																	0													54	57	56					5																	178392572		2203	4300	6503	SO:0001587	stop_gained	0			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"Zinc fingers, C2H2-type", "-"	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.1167T>A	5.37:g.178392572T>A	ENSP00000326249:p.Cys389*		Q2M1P2|Q2M323	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C389*	ENST00000320129.3	37	c.1167	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	T	38	6.849096	0.97885	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	.	.	.	4.07	2.89	0.33648	.	0.000000	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9013	6.7723	0.23601	0.0:0.1266:0.0:0.8734	.	.	.	.	X	389	.	ENSP00000326249:C389X	C	+	3	2	ZNF454	178325178	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.647000	0.24812	0.715000	0.32103	0.454000	0.30748	TGT	ZNF454	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000178187		0.418	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2		0	28	0	T	XM_209718		178392572	1			no_errors	ENST00000320129	ensembl	human	known	74_37	nonsense	5.71	33	2	SNP	1.000	A	A	178392572	T	A	178392572	4	1	95	1	0	0	0	0	0	1	0	0	17971	1702	59	5	1181	5	ZNF454	5	178392572	Nonsense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	2368477	178392572	2522688	119	27298											
GMDS	2762	genome.wustl.edu	37	chr6	1960205	1960205	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcatagagttttgctgccCctgttggaataatttttttt	8	18	9	6	0	0	1	0	0	0	1	0	2	0	2	2	2	2	4	2	2	3	9			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:1960205C>A	ENST00000380815.4	-	6	808	c.539G>T	c.(538-540)gGg>gTg	p.G180V	GMDS_ENST00000530927.1_Splice_Site_p.G150V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	180					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TTTTGCTGCCCCTGTTGGAAT	0.388																																																	0													58	56	57					6																	1960205		2203	4300	6503	SO:0001630	splice_region_variant	0			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4369	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 3E, member 1"	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.539-1G>T	6.37:g.1960205C>A			E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	p.G180V	ENST00000380815.4	37	c.539	CCDS4474.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598141	0.87055	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.94138	-3.36;-3.36	5.55	5.55	0.83447	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97993	0.9339	H	0.96691	3.865	0.80722	D	1	D	0.71674	0.998	D	0.68943	0.961	D	0.98722	1.0709	10	0.87932	D	0	.	19.8686	0.96842	0.0:1.0:0.0:0.0	.	180	O60547	GMDS_HUMAN	V	150;180	ENSP00000436726:G150V;ENSP00000370194:G180V	ENSP00000370194:G180V	G	-	2	0	GMDS	1905204	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.350000	0.79385	2.768000	0.95171	0.655000	0.94253	GGG	GMDS	-	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase	ENSG00000112699		0.388	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GMDS	HGNC	protein_coding	OTTHUMT00000043380.3	-	0	43	0	C		Missense_Mutation	1960205	-1	tier1	-	no_errors	ENST00000380815	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	A	A	1960205	C	A	1960205	5	1	95	1	0	0	0	0	0	0	1	0	6512	637	22	3	603	3	GMDS	6	1960205	Splice_Site	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09		1960205	169154862	120	27299											
RIPK1	8737	genome.wustl.edu	37	chr6	3105845	3105845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcagagtaaactccAagacgaagccaactaccatc	15	5	7	14	1	0	2	0	0	0	2	2	3	1	2	4	0	6	2	4	0	6	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:3105845A>G	ENST00000259808.4	+	9	1434	c.1136A>G	c.(1135-1137)cAa>cGa	p.Q379R	RIPK1_ENST00000541791.1_Missense_Mutation_p.Q333R|RIPK1_ENST00000380409.2_Missense_Mutation_p.Q379R|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	379	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGTAAACTCCAAGACGAAGCC	0.547																																																	0													93	95	95					6																	3105845		2203	4300	6503	SO:0001583	missense	0			U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1136A>G	6.37:g.3105845A>G	ENSP00000259808:p.Gln379Arg		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q379R	ENST00000259808.4	37	c.1136	CCDS4482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.189269|4.189269	0.78789|0.78789	.|.	.|.	ENSG00000137275|ENSG00000137275	ENST00000453483|ENST00000259808;ENST00000541791;ENST00000380409	.|T;T;T	.|0.79033	.|-1.23;-0.74;-1.23	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.334164	.|0.35615	.|N	.|0.003088	D|D	0.83815|0.83815	0.5336|0.5336	M|M	0.66939|0.66939	2.045|2.045	0.40640|0.40640	D|D	0.981932|0.981932	.|D;D	.|0.76494	.|0.999;0.995	.|D;P	.|0.69479	.|0.964;0.814	D|D	0.86168|0.86168	0.1598|0.1598	6|10	0.87932|0.72032	D|D	0|0.01	-29.1053|-29.1053	16.0419|16.0419	0.80691|0.80691	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|333;379	.|Q13546-2;Q13546	.|.;RIPK1_HUMAN	E|R	10|379;333;379	.|ENSP00000259808:Q379R;ENSP00000442294:Q333R;ENSP00000369773:Q379R	ENSP00000415981:K10E|ENSP00000259808:Q379R	K|Q	+|+	1|2	0|0	RIPK1|RIPK1	3050844|3050844	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.584000|0.584000	0.36387|0.36387	4.325000|4.325000	0.59234|0.59234	2.197000|2.197000	0.70478|0.70478	0.533000|0.533000	0.62120|0.62120	AAG|CAA	RIPK1	-	NULL	ENSG00000137275		0.547	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK1	HGNC	protein_coding	OTTHUMT00000039659.2		0	31	0	A	NM_003804		3105845	1			no_errors	ENST00000259808	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.998	G	G	3105845	A	G	3105845	3	3	95	1	0	0	0	0	1	0	0	0	13425	130	5	4	1166	4	RIPK1	6	3105845	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	1145640	3105845	168009222	121	27300											
HIST1H4B	8366	genome.wustl.edu	37	chr6	26027469	26027469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctttaccgcctttgccGcgaccagacatgtctaacca	11	9	6	15	3	1	1	0	0	1	1	1	2	1	1	6	0	4	0	6	0	3	4	rs569686893		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:26027469G>A	ENST00000377364.3	-	1	11	c.12C>T	c.(10-12)cgC>cgT	p.R4R		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	4					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGCCTTTGCCGCGACCAGACA	0.517																																																	0													50	48	48					6																	26027469		2203	4300	6503	SO:0001819	synonymous_variant	0			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"Histones / Replication-dependent"	4789	protein-coding gene	gene with protein product		602829	"H4 histone family, member I", "histone 1, H4b"	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.12C>T	6.37:g.26027469G>A			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.R4	ENST00000377364.3	37	c.12	CCDS4572.1	6																																																																																			HIST1H4B	-	superfamily_Histone-fold	ENSG00000124529		0.517	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2		0	32	0	G	NM_003544		26027469	-1			no_errors	ENST00000377364	ensembl	human	known	74_37	silent	25.93	20	7	SNP	0.247	A	A	26027469	G	A	26027469	2	1	95	1	0	0	0	0	0	0	0	1	7193	1074	38	1		1	HIST1H4B	6	26027469	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	22921624	26027469	145087598	122	27301											
HIST1H2AL	8332	genome.wustl.edu	37	chr6	27833152	27833152	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcgggacgcggcaagcAgggaggcaaagctcgcgcca	10	3	16	12	5	0	0	0	0	0	0	2	2	0	2	1	4	2	4	1	4	2	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:27833152A>T	ENST00000357320.2	+	1	119	c.20A>T	c.(19-21)cAg>cTg	p.Q7L		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	7						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CGCGGCAAGCAGGGAGGCAAA	0.572																																																	0													84	94	91					6																	27833152		2203	4300	6503	SO:0001583	missense	0			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"Histones / Replication-dependent"	4730	protein-coding gene	gene with protein product		602793	"H2A histone family, member I", "histone 1, H2al"	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.20A>T	6.37:g.27833152A>T	ENSP00000349873:p.Gln7Leu		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.Q7L	ENST00000357320.2	37	c.20	CCDS4634.1	6	.	.	.	.	.	.	.	.	.	.	.	8.647	0.897436	0.17686	.	.	ENSG00000198374	ENST00000357320	T	0.43294	0.95	4.89	3.69	0.42338	.	0.000000	0.29551	U	0.011831	T	0.30823	0.0777	.	.	.	0.26780	N	0.969619	.	.	.	.	.	.	T	0.12293	-1.0553	7	0.62326	D	0.03	.	11.1798	0.48620	0.8458:0.1542:0.0:0.0	.	.	.	.	L	7	ENSP00000349873:Q7L	ENSP00000349873:Q7L	Q	+	2	0	HIST1H2AL	27941131	0.973000	0.33851	0.059000	0.19551	0.005000	0.04900	2.934000	0.48956	0.793000	0.33875	0.533000	0.62120	CAG	HIST1H2AL	-	superfamily_Histone-fold,smart_Histone_H2A	ENSG00000198374		0.572	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	-	0	62	0	A	NM_003511		27833152	1	tier1	-	no_errors	ENST00000357320	ensembl	human	known	74_37	missense	25.81	46	16	SNP	1.000	T	T	27833152	A	T	27833152	3	4	95	1	0	0	0	0	1	0	0	0	7165	188	7	5	22	5	HIST1H2AL	6	27833152	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	1805683	27833152	143281915	123	27302											
ZNF193	7746	genome.wustl.edu	37	chr6	28200715	28200715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtaccactgcaaggagtGtgggaaggtcttcagtcaga	11	8	14	8	1	3	1	2	0	1	1	3	3	3	3	1	4	2	2	1	4	3	2	rs200626964		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:28200715G>T	ENST00000252207.5	+	4	1092	c.944G>T	c.(943-945)tGt>tTt	p.C315F	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.C315F|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.C366F	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	315					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGCAAGGAGTGTGGGAAGGTC	0.458																																																	0													94	95	95					6																	28200715		2203	4300	6503	SO:0001583	missense	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.944G>T	6.37:g.28200715G>T	ENSP00000252207:p.Cys315Phe		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C315F	ENST00000252207.5	37	c.944	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586317	0.86851	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	T;T;T;D	0.99974	1.1;1.1;1.1;-10.2	4.19	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.99981	0.9994	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.66497	0.944;0.944	D	0.96949	0.9693	9	0.87932	D	0	.	15.7893	0.78343	0.0:0.0:1.0:0.0	.	366;315	E7EVQ2;O15535	.;ZN193_HUMAN	F	366;315;315;344	ENSP00000404074:C366F;ENSP00000252207:C315F;ENSP00000433402:C315F;ENSP00000436166:C344F	ENSP00000252207:C315F	C	+	2	0	ZNF193	28308694	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.345000	0.97053	2.311000	0.77944	0.563000	0.77884	TGT	ZSCAN9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000137185		0.458	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZSCAN9	HGNC	protein_coding	OTTHUMT00000040183.2	-	0	41	0	G	NM_006299		28200715	1	tier1	-	no_errors	ENST00000252207	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	T	T	28200715	G	T	28200715	3	4	95	1	0	0	0	0	1	0	0	0	17805	1377	48	3	954	3	ZNF193	6	28200715	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	367563	28200715	142914352	124	27303											
PGBD1	84547	genome.wustl.edu	37	chr6	28269197	28269197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagataagtttacaaagttGagacctctcataaaacaaat	20	10	5	6	0	1	2	1	1	1	2	2	3	1	2	1	0	2	2	1	0	7	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:28269197G>T	ENST00000405948.2	+	7	1986	c.1566G>T	c.(1564-1566)ttG>ttT	p.L522F	PGBD1_ENST00000259883.3_Missense_Mutation_p.L522F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	522						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTACAAAGTTGAGACCTCTCA	0.348																																																	0													82	88	86					6																	28269197		2203	4299	6502	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1566G>T	6.37:g.28269197G>T	ENSP00000385213:p.Leu522Phe		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN	p.L522F	ENST00000405948.2	37	c.1566	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099937	0.37048	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.66	0.793	0.18632	.	0.163360	0.26867	N	0.022081	T	0.15696	0.0378	L	0.53249	1.67	0.30161	N	0.802214	D	0.76494	0.999	D	0.77557	0.99	T	0.03875	-1.0996	10	0.72032	D	0.01	-8.5032	4.5021	0.11869	0.2778:0.1624:0.5598:0.0	.	522	Q96JS3	PGBD1_HUMAN	F	522	ENSP00000385213:L522F;ENSP00000259883:L522F	ENSP00000259883:L522F	L	+	3	2	PGBD1	28377176	1.000000	0.71417	0.994000	0.49952	0.944000	0.59088	0.313000	0.19415	0.025000	0.15241	-0.136000	0.14681	TTG	PGBD1	-	NULL	ENSG00000137338		0.348	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	-	0	35	0	G			28269197	1	tier1	-	no_errors	ENST00000259883	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.997	T	T	28269197	G	T	28269197	3	4	95	1	0	0	0	0	1	0	0	0	11819	1281	45	3	1588	3	PGBD1	6	28269197	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	68482	28269197	142845870	125	27304											
SLC26A8	116369	genome.wustl.edu	37	chr6	35922931	35922931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctcagtacttacctGtcttaatacgactaaccccc	9	11	5	16	1	2	0	1	0	1	0	3	1	3	0	5	1	4	1	5	1	5	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:35922931G>T	ENST00000490799.1	-	17	2583	c.2230C>A	c.(2230-2232)Cag>Aag	p.Q744K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.Q744K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.Q639K	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTACTTACCTGTCTTAATACG	0.517																																																	0													99	92	94					6																	35922931		2203	4300	6503	SO:0001583	missense	0			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"Solute carriers"	14468	protein-coding gene	gene with protein product		608480	"solute carrier family 26, member 8"			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2230C>A	6.37:g.35922931G>T	ENSP00000417638:p.Gln744Lys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.Q744K	ENST00000490799.1	37	c.2230	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223392	0.58668	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87650	-2.28;-2.28;-2.28	4.68	4.68	0.58851	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.000000	0.56097	D	0.000034	D	0.86024	0.5834	L	0.46885	1.475	0.41594	D	0.988814	D;P;D	0.71674	0.998;0.862;0.998	D;P;D	0.67103	0.949;0.606;0.941	T	0.82206	-0.0572	10	0.15066	T	0.55	.	13.2815	0.60216	0.0:0.0:1.0:0.0	.	744;639;326	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	K	744;639;744	ENSP00000417638:Q744K;ENSP00000378100:Q639K;ENSP00000347778:Q744K	ENSP00000347778:Q744K	Q	-	1	0	SLC26A8	36030909	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	3.522000	0.53480	2.599000	0.87857	0.655000	0.94253	CAG	SLC26A8	-	pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	ENSG00000112053		0.517	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	HGNC	protein_coding	OTTHUMT00000040325.2	-	0	41	0	G			35922931	-1	tier1	-	no_errors	ENST00000355574	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	35922931	G	T	35922931	3	4	95	1	0	0	0	0	1	0	0	0	14568	1386	48	3	698	3	SLC26A8	6	35922931	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	7653734	35922931	135192136	126	27305											
TRERF1	55809	genome.wustl.edu	37	chr6	42211039	42211039	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgtttccgccccagccGcatgatctttttccacgtgt	4	13	9	15	4	1	1	0	1	1	0	3	1	3	1	6	1	1	2	6	1	0	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:42211039G>T	ENST00000372922.4	-	15	3368	c.2806C>A	c.(2806-2808)Cgg>Agg	p.R936R	TRERF1_ENST00000354325.2_Silent_p.R853R|TRERF1_ENST00000541110.1_Silent_p.R956R|TRERF1_ENST00000372917.4_Silent_p.R853R|TRERF1_ENST00000340840.2_Silent_p.R853R	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	936	Interacts with CREBBP.|SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R936W(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCCCCAGCCGCATGATCTTT	0.557																																																	1	Substitution - Missense(1)	lung(1)											179	151	160					6																	42211039		2203	4300	6503	SO:0001819	synonymous_variant	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2806C>A	6.37:g.42211039G>T			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R956	ENST00000372922.4	37	c.2866	CCDS4867.1	6																																																																																			TRERF1	-	superfamily_Homeodomain-like	ENSG00000124496		0.557	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0	65	0	G	NM_033502		42211039	-1			no_errors	ENST00000541110	ensembl	human	known	74_37	silent	7.50	37	3	SNP	1.000	T	T	42211039	G	T	42211039	2	4	95	1	0	0	0	0	0	0	0	1	16523	1086	38	2		2	TRERF1	6	42211039	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	6288108	42211039	128904028	127	27306											
PRIM2	5558	genome.wustl.edu	37	chr6	57244769	57244769	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaagtttaagtggacttaAgttggggttcgagtccattt	10	14	11	6	1	0	0	0	0	0	0	2	2	1	1	2	3	0	3	2	3	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:57244769A>C	ENST00000607273.1	+	6	617	c.530A>C	c.(529-531)aAg>aCg	p.K177T	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	177					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGTGGACTTAAGTTGGGGTTC	0.313																																																	0													50	52	51					6																	57244769		1908	4115	6023	SO:0001583	missense	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.530A>C	6.37:g.57244769A>C	ENSP00000475738:p.Lys177Thr		Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	pfam_DNA_primase_lsu_euk/arc	p.K177T	ENST00000607273.1	37	c.530		6																																																																																			PRIM2	-	NULL	ENSG00000146143		0.313	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		-	0	129	0	A	NM_000947		57244769	1	tier1	-	no_errors	ENST00000607273	ensembl	human	known	74_37	missense	8.33	65	6	SNP	0.000	C	C	57244769	A	C	57244769	3	2	95	1	0	0	0	0	1	0	0	0	12533	72	3	4	548	4	PRIM2	6	57244769	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	15033730	57244769	113870298	128	27307											
BAI3	577	genome.wustl.edu	37	chr6	69684705	69684705	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgtcgatggtgtggaaaAgaactccagcaggcgacttg	11	9	14	7	2	0	2	0	1	0	1	2	5	1	3	1	3	2	1	1	3	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:69684705A>C	ENST00000370598.1	+	9	2397	c.1576A>C	c.(1576-1578)Aga>Cga	p.R526R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	526					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGTGTGGAAAAGAACTCCAGC	0.428																																																	0													115	110	112					6																	69684705		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1576A>C	6.37:g.69684705A>C			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.R526	ENST00000370598.1	37	c.1576	CCDS4968.1	6																																																																																			BAI3	-	smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000135298		0.428	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	60	0	A			69684705	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	50.00	7	7	SNP	1.000	C	C	69684705	A	C	69684705	2	2	95	1	0	0	0	0	0	0	0	1	1301	64	3	4		4	BAI3	6	69684705	Silent	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	12439936	69684705	101430362	129	27308											
RIMS1	22999	genome.wustl.edu	37	chr6	72975164	72975164	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccttcatcatgaatgctTtaactcaacagtattgagat	12	15	5	9	0	3	2	3	2	0	1	4	3	4	2	1	0	3	2	1	0	4	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:72975164T>G	ENST00000521978.1	+	21	3266	c.3266T>G	c.(3265-3267)tTt>tGt	p.F1089C	RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1089					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATGAATGCTTTAACTCAACA	0.343																																																	0													95	89	91					6																	72975164		1858	4102	5960	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"Rab3-interacting molecule"	606629	"RAB3 interacting protein 2"	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3266T>G	6.37:g.72975164T>G	ENSP00000428417:p.Phe1089Cys		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.F1089C	ENST00000521978.1	37	c.3266	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	T	9.933	1.215380	0.22373	.	.	ENSG00000079841	ENST00000521978	T	0.13420	2.59	5.42	4.22	0.49857	.	0.159563	0.29253	N	0.012695	T	0.02267	0.0070	N	0.08118	0	0.29909	N	0.823746	P	0.34462	0.454	B	0.31191	0.125	T	0.39881	-0.9592	10	0.37606	T	0.19	-8.7784	11.3205	0.49419	0.1404:0.0:0.0:0.8596	.	1089	Q86UR5	RIMS1_HUMAN	C	1089	ENSP00000428417:F1089C	ENSP00000428417:F1089C	F	+	2	0	RIMS1	73031885	0.882000	0.30256	0.014000	0.15608	0.918000	0.54935	1.779000	0.38624	0.843000	0.35070	0.477000	0.44152	TTT	RIMS1	-	NULL	ENSG00000079841		0.343	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	-	0	97	0	T			72975164	1	tier1	-	no_errors	ENST00000521978	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.107	G	G	72975164	T	G	72975164	3	3	95	1	0	0	0	0	1	0	0	0	13412	1841	64	4	3511	4	RIMS1	6	72975164	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	3290459	72975164	98139903	130	27309											
COL12A1	1303	genome.wustl.edu	37	chr6	75825618	75825618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttttctgtcaggttgtAtgcttcaagcattttaaaac	10	18	6	7	0	4	0	2	0	2	0	4	0	4	0	0	1	3	4	0	1	4	8			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:75825618A>G	ENST00000322507.8	-	49	7888	c.7579T>C	c.(7579-7581)Tac>Cac	p.Y2527H	COL12A1_ENST00000345356.6_Missense_Mutation_p.Y1363H|COL12A1_ENST00000483888.2_Missense_Mutation_p.Y2527H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y2527H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2527	Laminin G-like.|Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCAGGTTGTATGCTTCAAGC	0.343																																																	0													84	80	81					6																	75825618		1859	4095	5954	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7579T>C	6.37:g.75825618A>G	ENSP00000325146:p.Tyr2527His		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.Y2527H	ENST00000322507.8	37	c.7579	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	A	16.31	3.087667	0.55968	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42;4.42	4.84	4.84	0.62591	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.067113	0.64402	D	0.000013	T	0.04318	0.0119	L	0.44542	1.39	0.45733	D	0.998639	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.909	T	0.44267	-0.9339	10	0.87932	D	0	.	14.4469	0.67356	1.0:0.0:0.0:0.0	.	1363;2527	Q99715-2;Q99715	.;COCA1_HUMAN	H	2527;165;2527;1363;2527;2527;81	ENSP00000325146:Y2527H;ENSP00000399812:Y165H;ENSP00000305147:Y1363H;ENSP00000412864:Y2527H;ENSP00000421216:Y2527H;ENSP00000423423:Y81H	ENSP00000325146:Y2527H	Y	-	1	0	COL12A1	75882338	1.000000	0.71417	0.989000	0.46669	0.278000	0.26855	8.887000	0.92456	1.798000	0.52647	0.533000	0.62120	TAC	COL12A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000111799		0.343	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	-	0	39	0	A	NM_004370		75825618	-1	tier1	-	no_errors	ENST00000322507	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.997	G	G	75825618	A	G	75825618	3	3	95	1	0	0	0	0	1	0	0	0	3676	449	16	4	1684	4	COL12A1	6	75825618	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	2850454	75825618	95289449	131	27310											
FILIP1	27145	genome.wustl.edu	37	chr6	76018615	76018615	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacccgtcttgtcctgacTgtaagagagaaaatacgtag	13	10	10	8	2	1	4	0	2	1	2	2	5	2	4	2	0	1	2	2	0	5	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:76018615T>A	ENST00000237172.7	-	6	3766		c.e6-2		FILIP1_ENST00000393004.2_Splice_Site|FILIP1_ENST00000370020.1_Splice_Site|FILIP1_ENST00000498523.1_Splice_Site	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1											breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGTCCTGACTGTAAGAGAGA	0.498																																																	0													76	72	73					6																	76018615		2203	4300	6503	SO:0001630	splice_region_variant	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3436-2A>T	6.37:g.76018615T>A			B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Splice_Site	SNP	-	e5-2	ENST00000237172.7	37	c.3436-2	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	T	21.5	4.162561	0.78226	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3378	0.83071	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FILIP1	76075335	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.198000	0.77823	2.255000	0.74692	0.533000	0.62120	.	FILIP1	-	-	ENSG00000118407		0.498	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1		0	74	0	T	XM_029179	Intron	76018615	-1			no_errors	ENST00000237172	ensembl	human	known	74_37	splice_site	11.32	47	6	SNP	1.000	A	A	76018615	T	A	76018615	5	1	95	1	0	0	0	0	0	0	1	0	5916	1594	55	5	211	5	FILIP1	6	76018615	Splice_Site	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	192997	76018615	95096452	132	27311											
C6orf225	619208	genome.wustl.edu	37	chr6	112420502	112420502	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatgccttttcaatttGgaacccagccaaggaggttt	11	12	10	8	0	1	0	1	0	0	0	1	3	1	2	3	3	3	2	3	3	5	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:112420502G>T	ENST00000368656.2	+	3	313	c.16G>T	c.(16-18)Gga>Tga	p.G6*	FAM229B_ENST00000604268.1_Nonsense_Mutation_p.G6*	NM_001033564.1	NP_001028736.1	Q4G0N7	F229B_HUMAN	family with sequence similarity 229, member B	6								p.G6*(1)									TTTTCAATTTGGAACCCAGCC	0.423																																																	1	Substitution - Nonsense(1)	lung(1)											93	93	93					6																	112420502		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34513.1	6q21	2012-12-12	2012-12-12	2012-12-12	ENSG00000203778	ENSG00000203778			33858	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 225"	C6orf225			Standard	NM_001033564		Approved	DKFZp586F0922, LOC619208	uc003pvs.3	Q4G0N7	OTTHUMG00000015383	ENST00000368656.2:c.16G>T	6.37:g.112420502G>T	ENSP00000357645:p.Gly6*		B8ZZ33	Nonsense_Mutation	SNP	NULL	p.G6*	ENST00000368656.2	37	c.16	CCDS34513.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.384647	0.95967	.	.	ENSG00000203778	ENST00000368656	.	.	.	5.18	5.18	0.71444	.	0.000000	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.4994	14.4465	0.67352	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000357645:G6X	G	+	1	0	C6orf225	112527195	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	4.126000	0.57937	2.869000	0.98440	0.558000	0.71614	GGA	FAM229B	-	NULL	ENSG00000203778		0.423	FAM229B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM229B	HGNC	protein_coding	OTTHUMT00000041870.2	-	0	85	0	G	NM_001033564		112420502	1	tier1	-	no_errors	ENST00000368656	ensembl	human	known	74_37	nonsense	5.88	64	4	SNP	1.000	T	T	112420502	G	T	112420502	4	4	95	1	0	0	0	0	0	1	0	0	2365	1349	47	3	18	3	C6orf225	6	112420502	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	36401887	112420502	58694565	133	27312											
SYNE1	23345	genome.wustl.edu	37	chr6	152652462	152652462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagaaactgggttttctcgGacaaggctttgtttaagtac	10	14	11	6	1	1	1	0	1	1	1	2	3	1	2	0	3	2	4	0	3	4	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr6:152652462G>T	ENST00000367255.5	-	78	13959	c.13358C>A	c.(13357-13359)tCc>tAc	p.S4453Y	SYNE1_ENST00000423061.1_Missense_Mutation_p.S4382Y|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.S4382Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4453Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4453					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTTTTCTCGGACAAGGCTTT	0.478										HNSCC(10;0.0054)																																							0													101	93	96					6																	152652462		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13358C>A	6.37:g.152652462G>T	ENSP00000356224:p.Ser4453Tyr		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4453Y	ENST00000367255.5	37	c.13358	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898331	0.52227	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038	T;T;T;T	0.55760	0.59;0.6;0.5;0.59	5.84	5.84	0.93424	.	0.100130	0.44902	D	0.000408	T	0.65281	0.2676	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.996;0.998	D;P;P;D	0.67548	0.952;0.862;0.862;0.935	T	0.65590	-0.6131	10	0.66056	D	0.02	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	4453;4453;4453;4382	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Y	4453;4382;4453;4382	ENSP00000356224:S4453Y;ENSP00000396024:S4382Y;ENSP00000265368:S4453Y;ENSP00000390975:S4382Y	ENSP00000265368:S4453Y	S	-	2	0	SYNE1	152694155	1.000000	0.71417	0.995000	0.50966	0.827000	0.46813	9.869000	0.99810	2.760000	0.94817	0.655000	0.94253	TCC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	23	0	G	NM_182961		152652462	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	152652462	G	T	152652462	3	4	95	1	0	0	0	0	1	0	0	0	15492	1174	41	3	13384	3	SYNE1	6	152652462	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	40231960	152652462	18462605	134	27313											
TMEM196	256130	genome.wustl.edu	37	chr7	19765275	19765275	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgcacgcgagagacatGgaggcaaggtgcagtgggta	12	5	16	8	2	0	1	0	0	0	1	0	4	0	2	1	4	2	4	1	4	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:19765275G>T	ENST00000405764.3	-	3	1017	c.321C>A	c.(319-321)tcC>tcA	p.S107S	TMEM196_ENST00000422233.1_Silent_p.S39S|TMEM196_ENST00000433641.1_Silent_p.S39S|TMEM196_ENST00000493519.1_Silent_p.S39S|TMEM196_ENST00000405844.1_Silent_p.S107S	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	113						integral component of membrane (GO:0016021)		p.S107S(1)|p.S39S(1)		breast(1)|large_intestine(1)|lung(4)	6						CGAGAGACATGGAGGCAAGGT	0.527																																																	2	Substitution - coding silent(2)	lung(2)											106	99	102					7																	19765275		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.321C>A	7.37:g.19765275G>T			Q8N6I6	Silent	SNP	NULL	p.S107	ENST00000405764.3	37	c.321	CCDS34607.2	7																																																																																			TMEM196	-	NULL	ENSG00000173452		0.527	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM196	HGNC	protein_coding	OTTHUMT00000326499.1		0	90	0	G	NM_152774		19765275	-1			no_errors	ENST00000405764	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	19765275	G	T	19765275	2	4	95	1	0	0	0	0	0	0	0	1	16165	1335	47	3		3	TMEM196	7	19765275	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		19765275	139373388	135	27314											
C7orf30	115416	genome.wustl.edu	37	chr7	23339222	23339222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgcccagaatcggacgCggcaggtacgggcgtggaga	9	3	19	10	6	0	2	0	0	0	2	1	5	0	4	1	6	1	2	1	6	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:23339222C>T	ENST00000466681.1	+	1	404	c.251C>T	c.(250-252)gCg>gTg	p.A84V	MALSU1_ENST00000479974.1_Intron	NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	84					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											GAATCGGACGCGGCAGGTACG	0.657																																																	0													12	15	14					7																	23339222		2183	4288	6471	SO:0001583	missense	0			BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"chromosome 7 open reading frame 30"	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.251C>T	7.37:g.23339222C>T	ENSP00000419370:p.Ala84Val		A4D154	Missense_Mutation	SNP	pfam_Oligomer_dom,tigrfam_Iojap/RsfS	p.A84V	ENST00000466681.1	37	c.251	CCDS5381.1	7	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945127	0.53079	.	.	ENSG00000156928	ENST00000466681	.	.	.	3.62	3.62	0.41486	.	1.185850	0.06245	N	0.691079	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	1	P	0.34587	0.458	B	0.20184	0.028	T	0.08207	-1.0733	9	0.46703	T	0.11	-2.112	11.0657	0.47974	0.0:1.0:0.0:0.0	.	84	Q96EH3	CG030_HUMAN	V	84	.	ENSP00000419370:A84V	A	+	2	0	C7orf30	23305747	0.001000	0.12720	0.004000	0.12327	0.004000	0.04260	0.788000	0.26872	2.324000	0.78689	0.655000	0.94253	GCG	MALSU1	-	NULL	ENSG00000156928		0.657	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MALSU1	HGNC	protein_coding	OTTHUMT00000250241.2	-	0	41	0	C	NM_138446		23339222	1	tier1	-	no_errors	ENST00000466681	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.004	T	T	23339222	C	T	23339222	3	4	95	1	0	0	0	0	1	0	0	0	2393	768	27	1	253	1	C7orf30	7	23339222	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	3573947	23339222	135799441	136	27315											
MYL7	58498	genome.wustl.edu	37	chr7	44178520	44178520	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcctggccctgccccTcattcctctttctcgtctcc	1	13	8	19	2	4	0	1	0	3	0	7	0	5	0	6	2	1	0	6	2	0	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:44178520T>C	ENST00000223364.3	-	7	554	c.528A>G	c.(526-528)tgA>tgG	p.*176W	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_Nonstop_Mutation_p.*149W	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	0						A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						GCCCTGCCCCTCATTCCTCTT	0.557																																																	0													119	83	95					7																	44178520		2203	4300	6503	SO:0001578	stop_lost	0			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"Myosins / Light chain", "EF-hand domain containing"	21719	protein-coding gene	gene with protein product		613993	"myosin, light polypeptide 7, regulatory"			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.528A>G	7.37:g.44178520T>C	ENSP00000223364:p.*176Cysext*?		B2R4L3	Nonstop_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.*176W	ENST00000223364.3	37	c.528	CCDS5478.1	7	.	.	.	.	.	.	.	.	.	.	T	12.38	1.921167	0.33908	.	.	ENSG00000106631	ENST00000446581;ENST00000223364;ENST00000458240;ENST00000457314	.	.	.	5.3	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7137	0.28692	0.0:0.1924:0.0:0.8076	.	.	.	.	W	136;176;149;198	.	.	X	-	3	0	MYL7	44145045	0.058000	0.20735	0.255000	0.24374	0.661000	0.39034	1.267000	0.33050	0.267000	0.21916	0.533000	0.62120	TGA	MYL7	-	NULL	ENSG00000106631		0.557	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	HGNC	protein_coding	OTTHUMT00000059446.4		0	52	0	T	NM_021223		44178520	-1			no_errors	ENST00000223364	ensembl	human	known	74_37	nonstop	8.51	43	4	SNP	0.582	C	C	44178520	T	C	44178520	4	2	95	1	0	0	0	0	0	0	0	0	10091	1564	54	4	3	4	MYL7	7	44178520	Nonstop_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	20839298	44178520	114960143	137	27316											
PKD1L1	168507	genome.wustl.edu	37	chr7	47979806	47979806	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccttctgcctggaagctGatgaggatgggctctgtgat	8	12	13	8	0	2	3	0	3	2	0	2	5	2	5	2	3	3	2	2	3	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:47979806G>T	ENST00000289672.2	-	3	319	c.269C>A	c.(268-270)tCa>tAa	p.S90*		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	90					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTGGAAGCTGATGAGGATGG	0.468																																																	0													159	135	143					7																	47979806		2203	4300	6503	SO:0001587	stop_gained	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.269C>A	7.37:g.47979806G>T	ENSP00000289672:p.Ser90*		Q6UWK1	Nonsense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.S90*	ENST00000289672.2	37	c.269	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461970	0.43736	.	.	ENSG00000158683	ENST00000289672	.	.	.	2.82	-4.43	0.03568	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	5.5253	0.16955	0.4826:0.1453:0.3721:0.0	.	.	.	.	X	90	.	ENSP00000289672:S90X	S	-	2	0	PKD1L1	47946331	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.404000	0.07205	-1.284000	0.02390	-0.923000	0.02734	TCA	PKD1L1	-	NULL	ENSG00000158683		0.468	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0	58	0	G	NM_138295		47979806	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.000	T	T	47979806	G	T	47979806	4	4	95	1	0	0	0	0	0	1	0	0	12003	1294	45	3	8500	3	PKD1L1	7	47979806	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	3801286	47979806	111158857	138	27317											
NSUN5	55695	genome.wustl.edu	37	chr7	72718984	72718984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatgaggtgtccggccCggtacagtgggtgttcatgc	7	9	16	9	2	1	2	1	1	0	1	2	2	2	2	2	4	2	3	2	4	2	2	rs563841683		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:72718984C>T	ENST00000252594.6	-	5	626	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	NSUN5_ENST00000438747.2_Missense_Mutation_p.R204Q|NSUN5_ENST00000428206.1_Missense_Mutation_p.R166Q|NSUN5_ENST00000310326.8_Missense_Mutation_p.R204Q			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	204					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GTGTCCGGCCCGGTACAGTGG	0.567													.|||	1	0.000199681	0	0	5008	,	,		19672	0.001		0	False		,,,				2504	0																0													32	31	31					7																	72718984		2201	4278	6479	SO:0001583	missense	0			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"NOP2/Sun domain containing"	16385	protein-coding gene	gene with protein product	"NOP2/Sun domain family, member 5A"	615732	"Williams Beuren syndrome chromosome region 20A", "NOL1/NOP2/Sun domain family, member 5"	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.611G>A	7.37:g.72718984C>T	ENSP00000252594:p.Arg204Gln		B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.R204Q	ENST00000252594.6	37	c.611	CCDS5547.1	7	.	.	.	.	.	.	.	.	.	.	C	8.173	0.792037	0.16258	.	.	ENSG00000130305	ENST00000428206;ENST00000252594;ENST00000438747;ENST00000310326	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	4.31	1.75	0.24633	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.499934	0.21928	N	0.067069	T	0.08268	0.0206	N	0.10916	0.065	0.32348	N	0.558885	B;B;B;B	0.12013	0.005;0.005;0.003;0.005	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.26087	-1.0113	10	0.17369	T	0.5	.	4.2819	0.10836	0.0:0.2436:0.3107:0.4457	.	204;166;204;204	B4DP79;G3V0G9;Q96P11;Q96P11-2	.;.;NSUN5_HUMAN;.	Q	166;204;204;204	ENSP00000393081:R166Q;ENSP00000252594:R204Q;ENSP00000388464:R204Q;ENSP00000309126:R204Q	ENSP00000252594:R204Q	R	-	2	0	NSUN5	72356920	0.002000	0.14202	0.556000	0.28293	0.595000	0.36748	0.068000	0.14531	0.169000	0.19679	0.485000	0.47835	CGG	NSUN5	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT	ENSG00000130305		0.567	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	-	0	70	0	C	NM_148956		72718984	-1	tier1	-	no_errors	ENST00000438747	ensembl	human	known	74_37	missense	20.27	59	15	SNP	0.721	T	T	72718984	C	T	72718984	3	4	95	1	0	0	0	0	1	0	0	0	10720	652	23	1	834	1	NSUN5	7	72718984	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	24739178	72718984	86419679	139	27318											
GRM3	2913	genome.wustl.edu	37	chr7	86415724	86415724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccatggctgagatcttgCgcttcttcaactggacctac	9	11	9	12	1	3	1	1	1	2	1	3	3	3	2	2	2	4	2	2	2	3	4	rs372311811		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:86415724C>T	ENST00000361669.2	+	3	1715	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R204C|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R78C|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R206C	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	206					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.R206C(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGAGATCTTGCGCTTCTTCAA	0.577																																					GBM(52;969 1098 3139 52280)												1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,4406		0,0,2203	98	86	90		616	5.7	1	7		90	1,8599	1.2+/-3.3	0,1,4299	no	missense	GRM3	NM_000840.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	206/880	86415724	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.616C>T	7.37:g.86415724C>T	ENSP00000355316:p.Arg206Cys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.R206C	ENST00000361669.2	37	c.616	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925517	0.73213	0.0	1.16E-4	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91885	0.7431	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;P;D	0.66716	0.911;0.9;0.946	D	0.93000	0.6422	10	0.87932	D	0	.	13.7862	0.63110	0.1531:0.8468:0.0:0.0	.	78;206;206	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	C	206;78;78;206;204	ENSP00000355316:R206C;ENSP00000405427:R78C;ENSP00000441407:R78C;ENSP00000398767:R206C;ENSP00000378209:R204C	ENSP00000355316:R206C	R	+	1	0	GRM3	86253660	0.997000	0.39634	1.000000	0.80357	0.952000	0.60782	1.870000	0.39529	2.711000	0.92665	0.655000	0.94253	CGC	GRM3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000198822		0.577	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	-	0	53	0	C			86415724	1	tier1	-	no_errors	ENST00000361669	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	T	T	86415724	C	T	86415724	3	4	95	1	0	0	0	0	1	0	0	0	6825	768	27	1	622	1	GRM3	7	86415724	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	13696740	86415724	72722939	140	27319											
MLL5	55904	genome.wustl.edu	37	chr7	104746052	104746052	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgtatactccactcctaAgcattatattagatttactt	12	16	3	10	0	0	1	0	0	0	1	2	1	2	1	3	0	3	2	3	0	7	9			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:104746052A>T	ENST00000311117.3	+	18	2908	c.2363A>T	c.(2362-2364)aAg>aTg	p.K788M	KMT2E_ENST00000257745.4_Missense_Mutation_p.K788M|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000334877.4_Missense_Mutation_p.K788M|CTB-152G17.6_ENST00000607968.1_RNA	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	788					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TCCACTCCTAAGCATTATATT	0.383																																																	0													125	124	125					7																	104746052		2203	4300	6503	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2363A>T	7.37:g.104746052A>T	ENSP00000312379:p.Lys788Met		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.K788M	ENST00000311117.3	37	c.2363	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	17.89	3.499062	0.64298	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93811	-3.29;-2.88;-3.29	6.04	6.04	0.98038	.	0.047464	0.85682	D	0.000000	D	0.95629	0.8579	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96044	0.9026	10	0.87932	D	0	.	16.5885	0.84745	1.0:0.0:0.0:0.0	.	788	Q8IZD2	MLL5_HUMAN	M	788;788;788;708;788	ENSP00000312379:K788M;ENSP00000335599:K788M;ENSP00000257745:K788M	ENSP00000257745:K788M	K	+	2	0	MLL5	104533288	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.700000	0.91322	2.317000	0.78254	0.460000	0.39030	AAG	KMT2E	-	NULL	ENSG00000005483		0.383	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	70	0	A			104746052	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	15.48	70	13	SNP	1.000	T	T	104746052	A	T	104746052	3	4	95	1	0	0	0	0	1	0	0	0	9662	72	3	5	2425	5	MLL5	7	104746052	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	18330328	104746052	54392611	141	27320											
FEZF1	389549	genome.wustl.edu	37	chr7	121942249	121942249	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgaggtcaaagttcctGcagaaacccttgccgcacgt	9	11	9	12	2	2	2	1	1	1	1	3	2	3	2	3	1	3	3	3	1	2	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:121942249G>T	ENST00000442488.2	-	4	1297	c.1230C>A	c.(1228-1230)tgC>tgA	p.C410*	FEZF1_ENST00000331178.4_Nonsense_Mutation_p.C406*|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Nonsense_Mutation_p.C360*	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	410					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CAAAGTTCCTGCAGAAACCCT	0.607																																																	0													162	137	146					7																	121942249		2203	4300	6503	SO:0001587	stop_gained	0			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"Zinc fingers, C2H2-type"	22788	protein-coding gene	gene with protein product		613301	"zinc finger protein 312B"	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1230C>A	7.37:g.121942249G>T	ENSP00000411145:p.Cys410*		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C410*	ENST00000442488.2	37	c.1230	CCDS34741.2	7	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890161	0.91889	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	.	.	.	5.4	3.43	0.39272	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.5004	9.2491	0.37545	0.2484:0.0:0.7516:0.0	.	.	.	.	X	410;406;360	.	ENSP00000332777:C406X	C	-	3	2	FEZF1	121729485	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.318000	0.51975	1.488000	0.48433	0.561000	0.74099	TGC	FEZF1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000128610		0.607	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	HGNC	protein_coding	OTTHUMT00000347410.1	-	0	85	0	G	NM_001024613		121942249	-1	tier1	-	no_errors	ENST00000442488	ensembl	human	known	74_37	nonsense	7.27	51	4	SNP	1.000	T	T	121942249	G	T	121942249	4	4	95	1	0	0	0	0	0	1	0	0	5847	1311	46	3	201	3	FEZF1	7	121942249	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	17196197	121942249	37196414	142	27321											
ZNF800	168850	genome.wustl.edu	37	chr7	127013999	127013999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctggccacctgcagccGacggactagttgatttaggg	7	11	13	10	2	0	1	0	1	0	0	0	3	0	2	3	3	3	3	3	3	2	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:127013999G>A	ENST00000393313.1	-	5	1982	c.1391C>T	c.(1390-1392)tCg>tTg	p.S464L	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.S464L|ZNF800_ENST00000393312.1_Missense_Mutation_p.S464L			Q2TB10	ZN800_HUMAN	zinc finger protein 800	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						ACCTGCAGCCGACGGACTAGT	0.383																																																	0													72	73	73					7																	127013999		2203	4300	6503	SO:0001583	missense	0			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"Zinc fingers, C2H2-type"	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1391C>T	7.37:g.127013999G>A	ENSP00000376989:p.Ser464Leu		Q9HBN0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S464L	ENST00000393313.1	37	c.1391	CCDS5795.1	7	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307790	0.23821	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.15603	2.41;2.41;2.41	5.54	3.62	0.41486	.	0.678564	0.13486	N	0.384336	T	0.07999	0.0200	N	0.08118	0	0.33306	D	0.565482	B;B	0.19331	0.035;0.035	B;B	0.15052	0.012;0.012	T	0.20207	-1.0282	8	.	.	.	0.4249	8.0127	0.30363	0.0808:0.0:0.7615:0.1577	.	367;464	B7Z4V7;Q2TB10	.;ZN800_HUMAN	L	464	ENSP00000376989:S464L;ENSP00000265827:S464L;ENSP00000376988:S464L	.	S	-	2	0	ZNF800	126801235	1.000000	0.71417	0.975000	0.42487	0.964000	0.63967	2.456000	0.44997	1.475000	0.48197	0.591000	0.81541	TCG	ZNF800	-	NULL	ENSG00000048405		0.383	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF800	HGNC	protein_coding	OTTHUMT00000141823.1	-	0	47	0	G	NM_176814		127013999	-1	tier1	-	no_errors	ENST00000265827	ensembl	human	known	74_37	missense	24.32	28	9	SNP	0.991	A	A	127013999	G	A	127013999	3	1	95	1	0	0	0	0	1	0	0	0	18217	1059	37	1	611	1	ZNF800	7	127013999	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5071750	127013999	32124664	143	27322											
ARF5	381	genome.wustl.edu	37	chr7	127231308	127231308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacccaaggcacaggtctGtacgatggtctggactggct	8	8	13	12	1	2	0	0	0	2	0	2	2	2	1	2	5	1	3	2	5	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:127231308G>A	ENST00000000233.5	+	6	652	c.498G>A	c.(496-498)ctG>ctA	p.L166L	GCC1_ENST00000497650.1_Intron|FSCN3_ENST00000265825.5_5'Flank|FSCN3_ENST00000420086.2_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	166					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GCACAGGTCTGTACGATGGTC	0.577																																																	0													48	44	45					7																	127231308		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"ADP-ribosylation factors"	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.498G>A	7.37:g.127231308G>A			P26437	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L166	ENST00000000233.5	37	c.498	CCDS34745.1	7																																																																																			ARF5	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type	ENSG00000004059		0.577	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF5	HGNC	protein_coding	OTTHUMT00000059567.2	-	0	50	0	G	NM_001662		127231308	1	tier1	-	no_errors	ENST00000000233	ensembl	human	known	74_37	silent	11.11	31	4	SNP	0.984	A	A	127231308	G	A	127231308	2	1	95	1	0	0	0	0	0	0	0	1	847	1364	48	3		3	ARF5	7	127231308	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	217309	127231308	31907355	144	27323											
MGAM	8972	genome.wustl.edu	37	chr7	141750548	141750548	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctacaaggaccccaataatTtagcatttaatgagattaaa	17	11	5	8	0	0	1	0	1	0	1	0	3	0	2	3	1	2	1	3	1	8	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr7:141750548T>G	ENST00000549489.2	+	24	2784	c.2689T>G	c.(2689-2691)Tta>Gta	p.L897V	MGAM_ENST00000475668.2_Missense_Mutation_p.L897V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	897	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCCAATAATTTAGCATTTAA	0.383																																																	0													65	57	59					7																	141750548		1814	4080	5894	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2689T>G	7.37:g.141750548T>G	ENSP00000447378:p.Leu897Val		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.L897V	ENST00000549489.2	37	c.2689	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079002	0.55753	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.90385	-2.66	5.81	-0.35	0.12606	.	0.000000	0.39687	N	0.001291	D	0.89622	0.6768	M	0.62088	1.915	0.09310	N	1	D	0.53462	0.96	P	0.50231	0.635	T	0.83261	-0.0048	10	0.49607	T	0.09	.	10.1929	0.43037	0.0:0.4545:0.0:0.5455	.	897	O43451	MGA_HUMAN	V	897;897;774	ENSP00000447378:L897V	ENSP00000316431:L774V	L	+	1	2	MGAM	141397017	0.107000	0.21998	0.380000	0.26093	0.804000	0.45430	0.097000	0.15168	0.145000	0.18977	0.456000	0.33151	TTA	MGAM	-	NULL	ENSG00000257335		0.383	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	63	0	T			141750548	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.109	G	G	141750548	T	G	141750548	3	3	95	1	0	0	0	0	1	0	0	0	9579	1838	64	4	2779	4	MGAM	7	141750548	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	14519240	141750548	17388115	145	27324											
MYOM2	9172	genome.wustl.edu	37	chr8	2065706	2065706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtacttgcactgggatGtcacggaagaatgtgaagtt	11	11	13	6	1	1	3	1	2	0	1	1	5	1	5	0	2	2	3	0	2	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:2065706G>A	ENST00000262113.4	+	28	3559	c.3418G>A	c.(3418-3420)Gtc>Atc	p.V1140I	MYOM2_ENST00000523438.1_Missense_Mutation_p.V565I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1140	Ig-like C2-type 4.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCACTGGGATGTCACGGAAGA	0.378																																																	0													88	85	86					8																	2065706		2203	4300	6503	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7614	protein-coding gene	gene with protein product		603509	"myomesin (M-protein) 2 (165kD)", "myomesin (M-protein) 2, 165kDa"				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3418G>A	8.37:g.2065706G>A	ENSP00000262113:p.Val1140Ile		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V1140I	ENST00000262113.4	37	c.3418	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	G	9.385	1.073957	0.20147	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.14391	2.51;2.51	5.03	3.24	0.37175	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.187966	0.46758	N	0.000279	T	0.12603	0.0306	L	0.58510	1.815	0.38871	D	0.956704	P	0.38711	0.643	B	0.32624	0.149	T	0.06023	-1.0850	10	0.52906	T	0.07	.	8.7444	0.34578	0.2312:0.0:0.7688:0.0	.	1140	P54296	MYOM2_HUMAN	I	1140;565	ENSP00000262113:V1140I;ENSP00000428396:V565I	ENSP00000262113:V1140I	V	+	1	0	MYOM2	2053113	1.000000	0.71417	0.026000	0.17262	0.007000	0.05969	5.305000	0.65750	0.535000	0.28714	-0.768000	0.03414	GTC	MYOM2	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000036448		0.378	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0	64	0	G	NM_003970		2065706	1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	36.07	39	22	SNP	0.915	A	A	2065706	G	A	2065706	3	1	95	1	0	0	0	0	1	0	0	0	10130	1377	48	3	3524	3	MYOM2	8	2065706	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		2065706	144298316	146	27325											
PCMTD1	115294	genome.wustl.edu	37	chr8	52733082	52733082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttcatcctcttcactGtctagaggctgaggaataag	10	15	8	8	0	4	2	2	1	2	1	5	3	5	3	1	2	0	1	1	2	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:52733082G>A	ENST00000360540.5	-	7	1309	c.903C>T	c.(901-903)gaC>gaT	p.D301D	PCMTD1_ENST00000544451.1_Silent_p.D225D|PCMTD1_ENST00000522514.1_Silent_p.D301D|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	301						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				cctcttcACTGTCTAGAGGCT	0.398																																																	0													130	122	125					8																	52733082		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.903C>T	8.37:g.52733082G>A			Q96FK9	Silent	SNP	pfam_PCMT	p.D301	ENST00000360540.5	37	c.903	CCDS6148.1	8																																																																																			PCMTD1	-	NULL	ENSG00000168300		0.398	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2		0	63	0	G	NM_052937		52733082	-1			no_errors	ENST00000360540	ensembl	human	known	74_37	silent	17.72	65	14	SNP	1.000	A	A	52733082	G	A	52733082	2	1	95	1	0	0	0	0	0	0	0	1	11625	1368	48	3		3	PCMTD1	8	52733082	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	50667376	52733082	93630940	147	27326											
RAB2A	5862	genome.wustl.edu	37	chr8	61504469	61504469	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggtgaagcttttgcaCgagaacatggactcatcttc	13	10	10	8	1	2	3	1	1	1	2	3	5	2	4	0	2	3	2	0	2	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:61504469C>T	ENST00000262646.7	+	6	766	c.415C>T	c.(415-417)Cga>Tga	p.R139*	RAB2A_ENST00000529579.1_Intron|RAB2A_ENST00000531289.1_Nonsense_Mutation_p.R115*|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	139					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AGCTTTTGCACGAGAACATGG	0.353																																																	0													105	107	106					8																	61504469		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"RAB, member RAS oncogene"	9763	protein-coding gene	gene with protein product		179509	"RAB2, member RAS oncogene family"	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.415C>T	8.37:g.61504469C>T	ENSP00000262646:p.Arg139*		B2R5W8|B4DMQ5|P08886	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R139*	ENST00000262646.7	37	c.415	CCDS6175.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.459933|6.459933	0.97585|0.97585	.|.	.|.	ENSG00000104388|ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000543829|ENST00000452437	.|.	.|.	.|.	5.48|5.48	4.6|4.6	0.57074|0.57074	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.69620	.|0.3131	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68849	.|-0.5300	.|4	0.06494|.	T|.	0.89|.	.|.	13.7789|13.7789	0.63071|0.63071	0.2782:0.7218:0.0:0.0|0.2782:0.7218:0.0:0.0	.|.	.|.	.|.	.|.	X|M	139;115;93|49	.|.	ENSP00000262646:R139X|.	R|T	+|+	1|2	2|0	RAB2A|RAB2A	61667023|61667023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.024000|3.024000	0.49674|0.49674	1.408000|1.408000	0.46895|0.46895	0.585000|0.585000	0.79938|0.79938	CGA|ACG	RAB2A	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000104388		0.353	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	HGNC	protein_coding	OTTHUMT00000259145.2	-	0	67	0	C			61504469	1	tier1	-	no_errors	ENST00000262646	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	61504469	C	T	61504469	4	4	95	1	0	0	0	0	0	1	0	0	12962	528	19	1	437	1	RAB2A	8	61504469	Nonsense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	8771387	61504469	84859553	148	27327											
CSPP1	79848	genome.wustl.edu	37	chr8	68044184	68044184	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttattgtgtatttgatgtAggaatacggttggacagaat	12	16	11	2	1	0	2	0	1	0	1	0	4	0	4	0	3	1	3	0	3	6	8			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:68044184A>G	ENST00000262210.5	+	14	1713		c.e14-1		CSPP1_ENST00000412460.1_Splice_Site	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1						positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTTGATGTAGGAATACGGT	0.299																																																	0													118	110	113					8																	68044184		1819	4083	5902	SO:0001630	splice_region_variant	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1683-1A>G	8.37:g.68044184A>G			A6ND63|Q70F00|Q8TBC1	Splice_Site	SNP	-	e14-2	ENST00000262210.5	37	c.1683-2	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073700	0.76415	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9637	0.71174	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68206738	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.868000	0.69605	2.018000	0.59344	0.383000	0.25322	.	CSPP1	-	-	ENSG00000104218		0.299	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1	-	0	82	0	A	NM_024790	Intron	68044184	1	tier1	-	no_errors	ENST00000262210	ensembl	human	known	74_37	splice_site	34.04	62	32	SNP	0.997	G	G	68044184	A	G	68044184	5	3	95	1	0	0	0	0	0	0	1	0	3971	434	15	4	1848	4	CSPP1	8	68044184	Splice_Site	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	6539715	68044184	78319838	149	27328											
CRISPLD1	83690	genome.wustl.edu	37	chr8	75924743	75924743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaacatggacctgcaagcTtgcttccatcaattggacag	11	9	11	10	0	1	0	1	0	0	0	2	3	2	3	2	3	4	3	2	3	3	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr8:75924743T>A	ENST00000262207.4	+	3	802	c.334T>A	c.(334-336)Ttg>Atg	p.L112M	CRISPLD1_ENST00000523524.1_5'UTR|CRISPLD1_ENST00000517786.1_5'UTR|CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	112	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ACCTGCAAGCTTGCTTCCATC	0.393																																																	0													146	133	137					8																	75924743		2203	4300	6503	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.334T>A	8.37:g.75924743T>A	ENSP00000262207:p.Leu112Met		B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1	p.L112M	ENST00000262207.4	37	c.334	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277134	0.59758	.	.	ENSG00000121005	ENST00000262207	T	0.08546	3.08	5.26	-1.15	0.09709	CAP domain (3);	0.000000	0.64402	D	0.000003	T	0.14830	0.0358	M	0.85462	2.755	0.58432	D	0.999999	P	0.49185	0.92	P	0.48368	0.575	T	0.02498	-1.1150	10	0.48119	T	0.1	.	6.3072	0.21145	0.1261:0.5453:0.0:0.3287	.	112	Q9H336	CRLD1_HUMAN	M	112	ENSP00000262207:L112M	ENSP00000262207:L112M	L	+	1	2	CRISPLD1	76087298	0.090000	0.21635	0.068000	0.19968	0.840000	0.47671	0.477000	0.22196	-0.409000	0.07553	-0.379000	0.06801	TTG	CRISPLD1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000121005		0.393	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	-	0	40	0	T	NM_031461		75924743	1	tier1	-	no_errors	ENST00000262207	ensembl	human	known	74_37	missense	14.49	59	10	SNP	0.629	A	A	75924743	T	A	75924743	3	1	95	1	0	0	0	0	1	0	0	0	3889	1606	56	5	340	5	CRISPLD1	8	75924743	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	7880559	75924743	70439279	150	27329											
TYRP1	7306	genome.wustl.edu	37	chr9	12704581	12704581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaagtcttcacaatttGgctcatctattcctgaatgg	9	15	8	9	1	4	1	2	1	2	0	6	2	5	1	1	2	0	2	1	2	4	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:12704581G>T	ENST00000388918.5	+	6	1266	c.1137G>T	c.(1135-1137)ttG>ttT	p.L379F	TYRP1_ENST00000381136.2_Missense_Mutation_p.L89F|TYRP1_ENST00000381137.2_Missense_Mutation_p.L88F|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	379					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCACAATTTGGCTCATCTAT	0.433									Oculocutaneous Albinism																																								0													100	85	90					9																	12704581		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1137G>T	9.37:g.12704581G>T	ENSP00000373570:p.Leu379Phe		P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.L379F	ENST00000388918.5	37	c.1137	CCDS34990.1	9	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614971	0.66672	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98313	-4.86;-4.86;-4.86	5.53	3.64	0.41730	Tyrosinase (2);Uncharacterised domain, di-copper centre (2);	0.000000	0.85682	D	0.000000	D	0.98611	0.9535	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98745	1.0718	10	0.87932	D	0	-16.4368	10.8549	0.46794	0.1585:0.0:0.8415:0.0	.	379	P17643	TYRP1_HUMAN	F	88;379;89	ENSP00000370529:L88F;ENSP00000373570:L379F;ENSP00000370528:L89F	ENSP00000370528:L89F	L	+	3	2	TYRP1	12694581	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.348000	0.66004	0.637000	0.30526	-0.229000	0.12294	TTG	TYRP1	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	ENSG00000107165		0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRP1	HGNC	protein_coding	OTTHUMT00000055502.3	-	0	91	0	G	NM_000550		12704581	1	tier1	-	no_errors	ENST00000388918	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	12704581	G	T	12704581	3	4	95	1	0	0	0	0	1	0	0	0	16865	1339	47	3	1155	3	TYRP1	9	12704581	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		12704581	128508850	151	27330											
KIAA1161	57462	genome.wustl.edu	37	chr9	34371718	34371718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgcgcacgaacagctcGcgctccacgccctcgccgaa	7	5	11	18	8	0	0	0	0	0	0	4	2	1	0	3	1	2	4	3	1	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:34371718G>A	ENST00000297625.7	-	2	1347	c.1122C>T	c.(1120-1122)cgC>cgT	p.R374R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	408					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGAACAGCTCGCGCTCCACGC	0.682																																																	0													22	26	25					9																	34371718		2031	4154	6185	SO:0001819	synonymous_variant	0			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1122C>T	9.37:g.34371718G>A			Q5T587|Q5T588|Q9ULQ9	Silent	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	p.R374	ENST00000297625.7	37	c.1122		9																																																																																			KIAA1161	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000164976		0.682	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	KIAA1161	HGNC	protein_coding	OTTHUMT00000052158.1		0	9	0	G	XM_351807		34371718	-1			no_errors	ENST00000297625	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.941	A	A	34371718	G	A	34371718	2	1	95	1	0	0	0	0	0	0	0	1	8238	1074	38	1		1	KIAA1161	9	34371718	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	21667137	34371718	106841713	152	27331											
TLN1	7094	genome.wustl.edu	37	chr9	35713962	35713962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttactgtctccccaggTaagggtttaagcttgccatc	9	13	8	11	0	1	0	0	0	1	0	3	0	1	0	3	2	4	3	3	2	4	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:35713962T>C	ENST00000314888.9	-	25	3590	c.3237A>G	c.(3235-3237)ttA>ttG	p.L1079L	TLN1_ENST00000540444.1_Silent_p.L1079L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1079					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTCCCCAGGTAAGGGTTTAA	0.468																																																	0													118	104	109					9																	35713962		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3237A>G	9.37:g.35713962T>C			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.L1079	ENST00000314888.9	37	c.3237	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.468	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	56	0	T	NM_006289		35713962	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	silent	31.40	59	27	SNP	0.956	C	C	35713962	T	C	35713962	2	2	95	1	0	0	0	0	0	0	0	1	15994	1635	57	4		4	TLN1	9	35713962	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	1342244	35713962	105499469	153	27332											
GNE	10020	genome.wustl.edu	37	chr9	36246411	36246411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatggctgcctcatcttctCccctcacaattgtgtgtagc	6	13	7	15	0	4	0	2	0	2	0	5	0	4	0	4	1	2	2	4	1	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:36246411C>T	ENST00000539815.1	-	2	273	c.233G>A	c.(232-234)gGa>gAa	p.G78E	GNE_ENST00000396594.3_Missense_Mutation_p.G109E|GNE_ENST00000447283.2_Missense_Mutation_p.G78E|GNE_ENST00000377902.5_Missense_Mutation_p.G78E|GNE_ENST00000543356.2_Missense_Mutation_p.G73E|GNE_ENST00000539208.1_Missense_Mutation_p.G19E			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	78					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTCATCTTCTCCCCTCACAAT	0.443																																					GBM(184;106 2118 20004 35750 50727)												0													70	67	68					9																	36246411		2203	4300	6503	SO:0001583	missense	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.233G>A	9.37:g.36246411C>T	ENSP00000439155:p.Gly78Glu		A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.G109E	ENST00000539815.1	37	c.326	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	C	16.01	2.999936	0.54147	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99176	-5.52;-5.52;-5.52;-5.52;-5.52	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	M	0.64676	1.99	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.997;1.0;1.0	D	0.99802	1.1036	10	0.52906	T	0.07	-27.6147	16.8608	0.86018	0.0:1.0:0.0:0.0	.	19;37;109;78;78	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	E	78;109;73;78;50;19;78	ENSP00000367134:G78E;ENSP00000379839:G109E;ENSP00000439155:G78E;ENSP00000445117:G19E;ENSP00000414760:G78E	ENSP00000340770:G73E	G	-	2	0	GNE	36236411	1.000000	0.71417	0.993000	0.49108	0.023000	0.10783	7.143000	0.77348	2.563000	0.86464	0.591000	0.81541	GGA	GNE	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase	ENSG00000159921		0.443	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	-	0	32	0	C	NM_005476		36246411	-1	tier1	-	no_errors	ENST00000396594	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T	T	36246411	C	T	36246411	3	4	95	1	0	0	0	0	1	0	0	0	6548	855	30	3	1975	3	GNE	9	36246411	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	532449	36246411	104967020	154	27333											
FAM75A6	389730	genome.wustl.edu	37	chr9	43626718	43626718	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtccctctctagctggaActtcaccttctgtgcctcct	5	13	7	16	0	3	0	1	0	2	0	6	1	5	1	4	2	3	1	4	2	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:43626718A>C	ENST00000332857.6	-	4	1997	c.1969T>G	c.(1969-1971)Ttc>Gtc	p.F657V	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	657					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCTAGCTGGAACTTCACCTTC	0.557																																																	0													2	3	3					9																	43626718		387	1095	1482	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A6"	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1969T>G	9.37:g.43626718A>C	ENSP00000329825:p.Phe657Val			Missense_Mutation	SNP	NULL	p.F657V	ENST00000332857.6	37	c.1969	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117155	0.20795	.	.	ENSG00000185775	ENST00000332857	T	0.06849	3.25	2.59	0.0361	0.14190	.	0.000000	0.39475	N	0.001355	T	0.07503	0.0189	M	0.64404	1.975	0.09310	N	1	B	0.29270	0.24	B	0.33042	0.157	T	0.33266	-0.9875	10	0.16896	T	0.51	-8.1905	2.8655	0.05600	0.5803:0.2659:0.1538:0.0	.	657	Q5VVP1	F75A6_HUMAN	V	657	ENSP00000329825:F657V	ENSP00000329825:F657V	F	-	1	0	FAM75A6	43566714	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.692000	0.05127	0.015000	0.14971	0.315000	0.21342	TTC	SPATA31A6	-	NULL	ENSG00000185775		0.557	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0	274	0	A	NM_001145196		43626718	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	44.53	70	57	SNP	0.000	C	C	43626718	A	C	43626718	3	2	95	1	0	0	0	0	1	0	0	0	5644	43	2	4	2066	4	FAM75A6	9	43626718	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	7380307	43626718	97586713	155	27334											
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69423721	69423721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacaaattaaattcaatGccttaaaagataagttccgt	19	11	4	7	1	1	1	1	0	0	1	2	1	2	1	2	0	2	1	2	0	8	5	rs201112034		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:69423721G>A	ENST00000357336.3	+	15	2298	c.2017G>A	c.(2017-2019)Gcc>Acc	p.A673T		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	673										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TAAATTCAATGCCTTAAAAGA	0.333																																																	0													1	1	1					9																	69423721		267	802	1069	SO:0001583	missense	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.2017G>A	9.37:g.69423721G>A	ENSP00000349891:p.Ala673Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A673T	ENST00000357336.3	37	c.2017	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	G	2.328	-0.354086	0.05173	.	.	ENSG00000172014	ENST00000357336	T	0.13657	2.57	2.26	2.26	0.28386	.	.	.	.	.	T	0.02494	0.0076	N	0.00347	-1.61	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.43114	-0.9411	9	0.02654	T	1	.	5.6291	0.17499	0.8457:0.0:0.1543:0.0	.	673	Q4UJ75	A20A4_HUMAN	T	673	ENSP00000349891:A673T	ENSP00000349891:A673T	A	+	1	0	ANKRD20A4	68713541	0.045000	0.20229	0.014000	0.15608	0.011000	0.07611	0.690000	0.25451	0.124000	0.18369	-1.451000	0.01035	GCC	ANKRD20A4	-	NULL	ENSG00000172014		0.333	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	-	0	22	0	G	NM_001098805		69423721	1	tier1	rs201112034	no_errors	ENST00000357336	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.763	A	A	69423721	G	A	69423721	3	1	95	1	0	0	0	0	1	0	0	0	650	1319	46	3	2075	3	ANKRD20A4	9	69423721	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	25797003	69423721	71789710	156	27335											
ZFAND5	7763	genome.wustl.edu	37	chr9	74975126	74975126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtaggactgttggaacCactagctgttcctatttaaa	11	13	10	7	0	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	6	7	rs376006282		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:74975126C>A	ENST00000237937.3	-	3	720	c.163G>T	c.(163-165)Ggt>Tgt	p.G55C	ZFAND5_ENST00000343431.2_Missense_Mutation_p.G55C|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.G55C|ZFAND5_ENST00000376962.5_Missense_Mutation_p.G55C	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	55					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						CTGTTGGAACCACTAGCTGTT	0.378																																																	0													75	74	75					9																	74975126		2203	4298	6501	SO:0001583	missense	0			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"Zinc fingers, AN1-type domain containing"	13008	protein-coding gene	gene with protein product		604761	"zinc finger protein 216", "zinc finger, A20 domain containing 2"	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.163G>T	9.37:g.74975126C>A	ENSP00000237937:p.Gly55Cys		A8K484	Missense_Mutation	SNP	pfam_Znf_A20,pfam_Znf_AN1,smart_Znf_A20,smart_Znf_AN1,pfscan_Znf_A20,pfscan_Znf_AN1	p.G55C	ENST00000237937.3	37	c.163	CCDS6642.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094846	0.76870	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	0.045027	0.85682	D	0.000000	T	0.61148	0.2324	L	0.29908	0.895	0.58432	D	0.999995	D	0.61080	0.989	P	0.52514	0.701	T	0.61778	-0.6993	9	0.59425	D	0.04	-10.1424	20.5948	0.99439	0.0:1.0:0.0:0.0	.	55	O76080	ZFAN5_HUMAN	C	55;55;55;55;107	.	ENSP00000237937:G55C	G	-	1	0	ZFAND5	74164946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.428000	0.59894	2.873000	0.98535	0.563000	0.77884	GGT	ZFAND5	-	NULL	ENSG00000107372		0.378	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND5	HGNC	protein_coding	OTTHUMT00000052644.1	-	0	27	0	C			74975126	-1	tier1	-	no_errors	ENST00000237937	ensembl	human	known	74_37	missense	47.06	9	8	SNP	1.000	A	A	74975126	C	A	74975126	3	1	95	1	0	0	0	0	1	0	0	0	17678	594	21	3	494	3	ZFAND5	9	74975126	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	5551405	74975126	66238305	157	27336											
PRUNE2	158471	genome.wustl.edu	37	chr9	79253189	79253189	+	Frame_Shift_Del	DEL	C	C	-																															acacaatgatggcatttagaCcgtccccatagtatcctggg																								rs373259322		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:79253189delC	ENST00000376718.3	-	13	8867	c.8744delG	c.(8743-8745)ggtfs	p.G2915fs	PRUNE2_ENST00000443509.2_Frame_Shift_Del_p.G164fs|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Frame_Shift_Del_p.G2557fs|PRUNE2_ENST00000223609.6_Frame_Shift_Del_p.G180fs	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2915	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCATTTAGACCGTCCCCATA	0.423																																																	0													62	59	60					9																	79253189		1568	3582	5150	SO:0001589	frameshift_variant	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8744delG	9.37:g.79253189delC	ENSP00000365908:p.Gly2915fs		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Frame_Shift_Del	DEL	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.G2557fs	ENST00000376718.3	37	c.7670	CCDS47982.1	9																																																																																			PRUNE2	-	pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000106772		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2		0	55	0	C	NM_138818		79253189	-1	tier1		no_errors	ENST00000428286	ensembl	human	known	74_37	frame_shift_del	11.11	16	2	DEL	1.000	-	-	79253189	C	-	79253189	7	5	95	1	0	1	0	1	0	0	0	0	12683	507	18	0	550	0	PRUNE2	9	79253189	Frame_Shift_Del	DEL	C	TCGA-L5-A8NW-01A-11D-A37C-09	4278063	79253189	61960242	158	27337											
ECM2	1842	genome.wustl.edu	37	chr9	95263199	95263199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacaagtattccaggcctgGttccatgtggccaaacacat	11	10	9	11	0	0	0	0	0	0	0	2	0	2	0	4	3	2	3	4	3	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:95263199G>T	ENST00000344604.5	-	9	1890	c.1741C>A	c.(1741-1743)Cca>Aca	p.P581T	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.P559T	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	581					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCCAGGCCTGGTTCCATGTGG	0.478																																																	0													158	138	145					9																	95263199		2203	4300	6503	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1741C>A	9.37:g.95263199G>T	ENSP00000344758:p.Pro581Thr		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.P581T	ENST00000344604.5	37	c.1741	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749608	0.89753	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.60299	0.2;0.2	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.72252	0.3437	L	0.48877	1.53	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.91635	0.993;0.999;0.914	T	0.73720	-0.3894	10	0.72032	D	0.01	.	19.4519	0.94871	0.0:0.0:1.0:0.0	.	581;559;559	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	T	559;581	ENSP00000393971:P559T;ENSP00000344758:P581T	ENSP00000344758:P581T	P	-	1	0	ECM2	94303020	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.581000	0.82535	2.676000	0.91093	0.591000	0.81541	CCA	ECM2	-	NULL	ENSG00000106823		0.478	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1		0	48	0	G	NM_001393		95263199	-1			no_errors	ENST00000344604	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	95263199	G	T	95263199	3	4	95	1	0	0	0	0	1	0	0	0	4912	1261	44	3	366	3	ECM2	9	95263199	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	16010010	95263199	45950232	159	27338											
AKAP2	11217	genome.wustl.edu	37	chr9	112899971	112899971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcggtgaggtctcaggataCcacagtcctggagaccctat	9	9	12	11	1	1	2	1	1	1	1	4	4	2	3	3	4	1	0	3	4	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:112899971C>T	ENST00000259318.7	+	2	1661	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I	AKAP2_ENST00000510514.5_Missense_Mutation_p.T716I|AKAP2_ENST00000374525.1_Missense_Mutation_p.T574I|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.T716I|AKAP2_ENST00000434623.2_Missense_Mutation_p.T574I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.T716I|AKAP2_ENST00000555236.1_Missense_Mutation_p.T716I	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	485										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TCTCAGGATACCACAGTCCTG	0.493																																																	0													99	98	98					9																	112899971		2203	4300	6503	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1454C>T	9.37:g.112899971C>T	ENSP00000259318:p.Thr485Ile		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.T716I	ENST00000259318.7	37	c.2147	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021887	0.75275	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.65364	1.23;1.24;1.23;1.24;0.5;-0.11;-0.15;0.56	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.997;0.998;0.996;0.999;0.999;0.997	T	0.74529	-0.3635	10	0.87932	D	0	-36.4375	19.1609	0.93531	0.0:1.0:0.0:0.0	.	485;574;568;574;575;716;716;534	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	I	716;716;716;716;574;574;534;485	ENSP00000363654:T716I;ENSP00000305861:T716I;ENSP00000451476:T716I;ENSP00000421522:T716I;ENSP00000404782:T574I;ENSP00000363649:T574I;ENSP00000419268:T534I;ENSP00000259318:T485I	ENSP00000259318:T485I	T	+	2	0	PALM2-AKAP2;AKAP2	111939792	1.000000	0.71417	0.995000	0.50966	0.885000	0.51271	7.272000	0.78516	2.757000	0.94681	0.655000	0.94253	ACC	PALM2-AKAP2	-	NULL	ENSG00000157654		0.493	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	-	0	26	0	C	NM_001004065		112899971	1	tier1	-	no_errors	ENST00000374530	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	T	T	112899971	C	T	112899971	3	4	95	1	0	0	0	0	1	0	0	0	451	507	18	3	1727	3	AKAP2	9	112899971	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	17636772	112899971	28313460	160	27339											
DBC1	1620	genome.wustl.edu	37	chr9	121930116	121930116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaagaaggtgtcgaggCggatctcgttgctgatgaag	10	9	16	6	3	2	3	1	2	1	1	4	5	2	4	0	4	1	2	0	4	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:121930116C>T	ENST00000265922.3	-	8	1993	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	511					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GGTGTCGAGGCGGATCTCGTT	0.562																																																	0													248	176	201					9																	121930116		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1532G>A	9.37:g.121930116C>T	ENSP00000265922:p.Arg511His		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R511H	ENST00000265922.3	37	c.1532	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.637290	0.87760	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.20881	2.04	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	M	0.61703	1.905	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.33675	-0.9859	10	0.72032	D	0.01	-21.531	19.91	0.97023	0.0:1.0:0.0:0.0	.	511	O60477	DBC1_HUMAN	H	511	ENSP00000265922:R511H	ENSP00000265922:R511H	R	-	2	0	DBC1	120969937	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.019000	0.70818	2.702000	0.92279	0.655000	0.94253	CGC	BRINP1	-	NULL	ENSG00000078725		0.562	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0	51	0	C	NM_014618		121930116	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	T	T	121930116	C	T	121930116	3	4	95	1	0	0	0	0	1	0	0	0	4256	768	27	1	757	1	DBC1	9	121930116	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	9030145	121930116	19283315	161	27340											
OR1L1	26737	genome.wustl.edu	37	chr9	125424901	125424901	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagcagggtttggcaaagTtgatgcacaggatgaaatgt	13	10	14	4	0	0	3	0	3	0	0	0	4	0	4	0	3	2	5	0	3	3	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:125424901T>G	ENST00000373686.1	+	1	1057	c.1057T>G	c.(1057-1059)Ttg>Gtg	p.L353V	OR1L1_ENST00000309623.1_Missense_Mutation_p.L303V			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTTGGCAAAGTTGATGCACAG	0.388																																																	0													84	78	80					9																	125424901		2203	4300	6503	SO:0001583	missense	0				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"GPCR / Class A : Olfactory receptors"	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.1057T>G	9.37:g.125424901T>G	ENSP00000362790:p.Leu353Val		Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L353V	ENST00000373686.1	37	c.1057		9	.	.	.	.	.	.	.	.	.	.	T	6.339	0.430617	0.12045	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.41400	1.0;1.0	3.26	-0.0241	0.13940	.	.	.	.	.	T	0.22244	0.0536	N	0.25992	0.78	0.09310	N	1	P	0.36171	0.541	B	0.29353	0.101	T	0.11324	-1.0592	9	0.27785	T	0.31	.	5.6123	0.17412	0.0:0.6124:0.1669:0.2207	.	353	Q8NH94	OR1L1_HUMAN	V	353;303	ENSP00000362790:L353V;ENSP00000310773:L303V	ENSP00000310773:L303V	L	+	1	2	OR1L1	124464722	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-3.550000	0.00434	-0.108000	0.12066	-1.962000	0.00476	TTG	OR1L1	-	NULL	ENSG00000173679		0.388	OR1L1-201	KNOWN	basic	protein_coding	OR1L1	HGNC	protein_coding		-	0	22	0	T			125424901	1	tier1	-	no_errors	ENST00000373686	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.011	G	G	125424901	T	G	125424901	3	3	95	1	0	0	0	0	1	0	0	0	11002	1722	60	4	909	4	OR1L1	9	125424901	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	3494785	125424901	15788530	162	27341											
FUBP3	8939	genome.wustl.edu	37	chr9	133470944	133470944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccctcagtatatggataCggagtacaaaaacggccctt	13	8	9	11	2	1	0	1	0	0	0	1	3	1	2	3	3	3	2	3	3	6	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:133470944C>T	ENST00000319725.9	+	2	234	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	53					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TATATGGATACGGAGTACAAA	0.408																																																	0													171	157	161					9																	133470944		1858	4096	5954	SO:0001819	synonymous_variant	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.159C>T	9.37:g.133470944C>T			A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.Y53	ENST00000319725.9	37	c.159	CCDS43893.1	9																																																																																			FUBP3	-	NULL	ENSG00000107164		0.408	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	-	0	32	0	C			133470944	1	tier1	-	no_errors	ENST00000319725	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.947	T	T	133470944	C	T	133470944	2	4	95	1	0	0	0	0	0	0	0	1	6117	547	19	1		1	FUBP3	9	133470944	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	8046043	133470944	7742487	163	27342											
ENTPD2	954	genome.wustl.edu	37	chr9	139944964	139944964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgggtggaaaagcccctCggccagcaggggtggaagcc	9	5	16	11	1	0	0	0	0	0	0	1	2	0	2	4	6	3	1	4	6	3	1	rs371567979		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:139944964C>T	ENST00000355097.2	-	6	848	c.801G>A	c.(799-801)ccG>ccA	p.P267P	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Silent_p.P267P	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	267					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AAAAGCCCCTCGGCCAGCAGG	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		17177	0.001		0	False		,,,				2504	0																0								C	,	0,4394		0,0,2197	29	27	28		801,801	-8.3	0.1	9		28	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	ENTPD2	NM_001246.2,NM_203468.1	,	0,1,6493	TT,TC,CC		0.0116,0.0,0.0077	,	267/473,267/496	139944964	1,12987	2197	4297	6494	SO:0001819	synonymous_variant	0			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"CD39-like-1", "ecto-ATPase"	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.801G>A	9.37:g.139944964C>T		1652	O15464|Q5SPY6|Q5SPY7	Silent	SNP	pfam_GDA1_CD39_NTPase	p.P267	ENST00000355097.2	37	c.801	CCDS7026.1	9																																																																																			ENTPD2	-	pfam_GDA1_CD39_NTPase	ENSG00000054179		0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1	-	0	80	0	C	NM_203468		139944964	-1	tier1	-	no_errors	ENST00000355097	ensembl	human	known	74_37	silent	51.79	27	29	SNP	0.000	T	T	139944964	C	T	139944964	2	4	95	1	0	0	0	0	0	0	0	1	5155	871	31	1		1	ENTPD2	9	139944964	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	6474020	139944964	1268467	164	27343											
GRIN1	2902	genome.wustl.edu	37	chr9	140056471	140056471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccgctaaccataaacaaCgagcgcgcgcagtacatcga	13	4	10	14	7	0	0	0	0	0	0	1	2	0	0	2	0	5	3	2	0	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr9:140056471C>T	ENST00000371561.3	+	11	2660	c.1563C>T	c.(1561-1563)aaC>aaT	p.N521N	GRIN1_ENST00000371560.3_Silent_p.N542N|GRIN1_ENST00000371559.4_Silent_p.N521N|GRIN1_ENST00000371550.4_Silent_p.N521N|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000350902.5_Silent_p.N521N|GRIN1_ENST00000371553.3_Silent_p.N542N|GRIN1_ENST00000371546.4_Silent_p.N542N|GRIN1_ENST00000315048.3_Silent_p.N521N|GRIN1_ENST00000371555.4_Silent_p.N542N	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	521					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCATAAACAACGAGCGCGCGC	0.602																																					NSCLC(113;717 1653 2089 20474 37618)												0													41	33	35					9																	140056471		2173	4267	6440	SO:0001819	synonymous_variant	0				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4584	protein-coding gene	gene with protein product		138249	"N-methyl-D-aspartate receptor subunit NR1"	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1563C>T	9.37:g.140056471C>T			A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N521	ENST00000371561.3	37	c.1563	CCDS7031.1	9																																																																																			GRIN1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000176884		0.602	GRIN1-002	KNOWN	basic|CCDS	protein_coding	GRIN1	HGNC	protein_coding	OTTHUMT00000055267.3	-	0	98	0	C	NM_007327		140056471	1	tier1	-	no_errors	ENST00000371561	ensembl	human	known	74_37	silent	49.02	52	50	SNP	0.987	T	T	140056471	C	T	140056471	2	4	95	1	0	0	0	0	0	0	0	1	6805	535	19	1		1	GRIN1	9	140056471	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	111507	140056471	1156960	165	27344											
DIP2C	22982	genome.wustl.edu	37	chr10	355976	355976	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgtacagtacctgtcGtgtctcagggctctcatgtc	8	12	11	10	1	2	1	2	0	2	1	6	1	2	1	1	1	2	3	1	1	3	2	rs200561296	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:355976G>A	ENST00000280886.6	-	32	4068	c.3981C>T	c.(3979-3981)caC>caT	p.H1327H		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1327						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGTACCTGTCGTGTCTCAGGG	0.478													G|||	2	0.000399361	0	0	5008	,	,		19411	0.001		0	False		,,,				2504	0.001																0								G		1,4405	2.1+/-5.4	0,1,2202	168	146	153		3981	-10	0.2	10		153	0,8600		0,0,4300	no	coding-synonymous	DIP2C	NM_014974.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1327/1557	355976	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"KIAA0934"	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3981C>T	10.37:g.355976G>A			B4DPI5|Q5SS78	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.H1327	ENST00000280886.6	37	c.3981	CCDS7054.1	10																																																																																			DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.478	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1		0	44	0	G	NM_014974		355976	-1			no_errors	ENST00000280886	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.617	A	A	355976	G	A	355976	2	1	95	1	0	0	0	0	0	0	0	1	4543	1136	40	1		1	DIP2C	10	355976	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		355976	135178771	166	27345											
C10orf18	54906	genome.wustl.edu	37	chr10	5803348	5803348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaccagtgtgactctcGatcatcaacaaaagcagaaa	16	9	6	10	1	4	2	3	1	1	1	5	3	4	2	1	0	2	1	1	0	5	1	rs543461908	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:5803348G>T	ENST00000328090.5	+	19	7713	c.7088G>T	c.(7087-7089)cGa>cTa	p.R2363L		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2363								p.R2363Q(1)									TGTGACTCTCGATCATCAACA	0.388																																																	1	Substitution - Missense(1)	lung(1)											128	119	121					10																	5803348		1885	4117	6002	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.7088G>T	10.37:g.5803348G>T	ENSP00000328426:p.Arg2363Leu		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.R2363L	ENST00000328090.5	37	c.7088	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	11.85	1.762548	0.31228	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.42900	0.96	6.06	-4.42	0.03579	.	1.075400	0.07195	N	0.856424	T	0.24160	0.0585	L	0.41236	1.265	0.09310	N	1	P	0.35656	0.514	B	0.28553	0.091	T	0.17684	-1.0361	10	0.45353	T	0.12	.	2.4288	0.04466	0.3705:0.309:0.2214:0.0992	.	2363	Q5VWN6	F208B_HUMAN	L	2363;1558	ENSP00000328426:R2363L	ENSP00000328426:R2363L	R	+	2	0	C10orf18	5843354	0.000000	0.05858	0.002000	0.10522	0.299000	0.27559	-1.301000	0.02749	-0.631000	0.05560	0.650000	0.86243	CGA	FAM208B	-	NULL	ENSG00000108021		0.388	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2		0	44	0	G	NM_017782		5803348	1			no_errors	ENST00000328090	ensembl	human	known	74_37	missense	5.26	36	2	SNP	0.000	T	T	5803348	G	T	5803348	3	4	95	1	0	0	0	0	1	0	0	0	1601	1058	37	2	7150	2	C10orf18	10	5803348	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5447372	5803348	129731399	167	27346											
MLLT10	8028	genome.wustl.edu	37	chr10	22021940	22021940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagttattgaatgcacaGctttcagtgccttttccaac	9	15	6	11	0	2	1	2	1	0	0	3	1	3	1	2	0	4	3	2	0	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:22021940G>T	ENST00000307729.7	+	18	2509	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	MLLT10_ENST00000377059.3_Missense_Mutation_p.Q777H|MLLT10_ENST00000446906.2_Missense_Mutation_p.Q777H|MLLT10_ENST00000377072.3_Missense_Mutation_p.Q793H			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	777	Leucine-zipper.|Transactivation domain; required for DOT1L-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q793H(1)|p.Q777H(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGAATGCACAGCTTTCAGTGC	0.363			T	"MLL, PICALM, CDK6"	AL																																			Dom	yes		10	10p12	8028	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"		L	2	Substitution - Missense(2)	lung(2)											104	100	101					10																	22021940		2203	4300	6503	SO:0001583	missense	0			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"Zinc fingers, PHD-type"	16063	protein-coding gene	gene with protein product		602409	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2331G>T	10.37:g.22021940G>T	ENSP00000307411:p.Gln777His		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q777H	ENST00000307729.7	37	c.2331	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031841	0.75504	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	6.01	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	D;D;D;D	0.80764	0.994;0.986;0.928;0.986	T	0.02837	-1.1104	10	0.87932	D	0	.	11.0348	0.47793	0.1981:0.0:0.8019:0.0	.	472;777;777;793	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	H	793;777;777;612;777	ENSP00000366272:Q793H;ENSP00000401406:Q777H;ENSP00000307411:Q777H;ENSP00000366258:Q777H	ENSP00000307411:Q777H	Q	+	3	2	MLLT10	22061946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.579000	0.53900	0.457000	0.26962	0.655000	0.94253	CAG	MLLT10	-	NULL	ENSG00000078403		0.363	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1		0	65	0	G			22021940	1			no_errors	ENST00000307729	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	22021940	G	T	22021940	3	4	95	1	0	0	0	0	1	0	0	0	9664	962	34	3	2449	3	MLLT10	10	22021940	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	16218592	22021940	113512807	168	27347											
PTCHD3	374308	genome.wustl.edu	37	chr10	27702849	27702849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgtgacagcggtgccGgtgcctgcagatggccgtgg	4	8	19	10	4	0	2	0	1	0	1	1	2	0	2	3	5	4	1	3	5	0	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:27702849G>A	ENST00000438700.3	-	1	448	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	111					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGCGGTGCCGGTGCCTGCAG	0.701																																																	0													32	34	33					10																	27702849		2203	4299	6502	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.331C>T	10.37:g.27702849G>A	ENSP00000417658:p.Arg111Trp		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R111W	ENST00000438700.3	37	c.331	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	11.82	1.753546	0.31046	.	.	ENSG00000182077	ENST00000438700	D	0.88431	-2.38	1.8	0.611	0.17586	.	.	.	.	.	D	0.86932	0.6052	L	0.46157	1.445	0.09310	N	1	D	0.76494	0.999	P	0.52598	0.703	T	0.76822	-0.2817	9	0.72032	D	0.01	.	4.4893	0.11806	0.5068:0.0:0.4932:0.0	.	111	Q3KNS1	PTHD3_HUMAN	W	111	ENSP00000417658:R111W	ENSP00000417658:R111W	R	-	1	2	PTCHD3	27742855	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.306000	0.19279	-0.293000	0.08986	-0.367000	0.07326	CGG	PTCHD3	-	NULL	ENSG00000182077		0.701	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3		0	46	0	G	XM_370541		27702849	-1			no_errors	ENST00000438700	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.002	A	A	27702849	G	A	27702849	3	1	95	1	0	0	0	0	1	0	0	0	12776	1115	39	1	1988	1	PTCHD3	10	27702849	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5680909	27702849	107831898	169	27348											
NRP1	8829	genome.wustl.edu	37	chr10	33471651	33471651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcaattttaatttctggGttctttttatccaggtctgc	7	20	6	8	0	5	0	2	0	3	0	6	0	6	0	1	2	1	1	1	2	3	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:33471651G>A	ENST00000265371.4	-	17	2982	c.2457C>T	c.(2455-2457)aaC>aaT	p.N819N	NRP1_ENST00000374875.1_Silent_p.N631N|NRP1_ENST00000374867.2_Silent_p.N819N|NRP1_ENST00000395995.1_Intron			O14786	NRP1_HUMAN	neuropilin 1	819					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TAATTTCTGGGTTCTTTTTAT	0.313																																					Melanoma(104;886 1489 44640 45944 51153)												0													88	89	89					10																	33471651		2202	4300	6502	SO:0001819	synonymous_variant	0			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"CD molecules"	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2457C>T	10.37:g.33471651G>A			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.N819	ENST00000265371.4	37	c.2457	CCDS7177.1	10																																																																																			NRP1	-	pirsf_Neuropilin	ENSG00000099250		0.313	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	-	0	109	0	G			33471651	-1	tier1	-	no_errors	ENST00000265371	ensembl	human	known	74_37	silent	24.59	46	15	SNP	0.987	A	A	33471651	G	A	33471651	2	1	95	1	0	0	0	0	0	0	0	1	10699	1252	44	3		3	NRP1	10	33471651	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5768802	33471651	102063096	170	27349											
RTKN2	219790	genome.wustl.edu	37	chr10	64022582	64022583	+	Splice_Site	INS	-	-	A																															ttcttgaatgttgcagtcctINSaaaaaaaaaatgcatcttga																								rs149410563		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:64022582_64022583insA	ENST00000373789.3	-	2	157		c.e2-2		RTKN2_ENST00000395260.3_Splice_Site|RTKN2_ENST00000395265.1_Splice_Site	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2						hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTTGCAGTCCTAAAAAAAAAAT	0.302																																																	0																																										SO:0001630	splice_region_variant	0			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"Pleckstrin homology (PH) domain containing"	19364	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family K member 1"	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.61-2->T	10.37:g.64022592_64022592dupA			Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Splice_Site	INS	-	e2-2	ENST00000373789.3	37	c.61-3_61-2	CCDS7263.1	10																																																																																			RTKN2	-	-	ENSG00000182010		0.302	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000091618.1		0	44	0	-	NM_145307	Intron	64022583	-1	tier1		no_errors	ENST00000373789	ensembl	human	known	74_37	splice_site_ins	15.62	27	5	INS	1.000:0.881	A	A	64022583	-	A	64022582	8	5	95	1	0	1	1	0	0	0	1	0	13768	1536	53	0	1814	0	RTKN2	10	64022582	Splice_Site	INS	-	TCGA-L5-A8NW-01A-11D-A37C-09	30550931	64022582	71512165	171	27350											
DUSP13	51207	genome.wustl.edu	37	chr10	76854632	76854632	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcacagtgtaccagcacGcggcctgtagggagaaccaa	12	5	13	11	2	0	1	0	0	0	1	0	2	0	1	3	3	3	4	3	3	4	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:76854632G>T	ENST00000472493.2	-	4	477	c.399C>A	c.(397-399)cgC>cgA	p.R133R	DUSP13_ENST00000491677.2_Silent_p.R262R|DUSP13_ENST00000372700.3_Silent_p.R183R|DUSP13_ENST00000607131.1_Silent_p.R226R|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Silent_p.R82R|DUSP13_ENST00000478873.2_Silent_p.R269R|DUSP13_ENST00000605915.1_Silent_p.R155R|DUSP13_ENST00000372702.3_3'UTR	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	133	Tyrosine-protein phosphatase.				meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R262R(1)|p.R133R(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTACCAGCACGCGGCCTGTAG	0.562																																					NSCLC(174;1655 2059 12324 40663 42963)												2	Substitution - coding silent(2)	large_intestine(2)											86	65	72					10																	76854632		2203	4300	6503	SO:0001819	synonymous_variant	0			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.399C>A	10.37:g.76854632G>T			A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.R262	ENST00000472493.2	37	c.786	CCDS7346.1	10																																																																																			DUSP13	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000079393		0.562	DUSP13-004	KNOWN	basic|CCDS	protein_coding	DUSP13	HGNC	protein_coding	OTTHUMT00000048786.3		0	16	0	G			76854632	-1			no_errors	ENST00000491677	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.325	T	T	76854632	G	T	76854632	2	4	95	1	0	0	0	0	0	0	0	1	4827	1074	38	2		2	DUSP13	10	76854632	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	12832050	76854632	58680115	172	27351											
MMS19	64210	genome.wustl.edu	37	chr10	99236630	99236630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgaggtcatggacgatgCggaaggccaccagaagatta	14	6	14	7	2	1	4	1	1	0	3	1	7	1	6	2	4	1	0	2	4	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:99236630C>T	ENST00000438925.2	-	7	919	c.584G>A	c.(583-585)cGc>cAc	p.R195H	MMS19_ENST00000327277.7_5'UTR|MMS19_ENST00000355839.6_Intron|MMS19_ENST00000483626.1_5'UTR|MMS19_ENST00000370782.2_Missense_Mutation_p.R195H|MMS19_ENST00000327238.10_Missense_Mutation_p.R195H	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	195					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		ATGGACGATGCGGAAGGCCAC	0.498								Direct reversal of damage																																									0													111	95	100					10																	99236630		2203	4300	6503	SO:0001583	missense	0			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"MET18 homolog (S. cerevisiae)"	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.584G>A	10.37:g.99236630C>T	ENSP00000412698:p.Arg195His		B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	pfam_Tscrpt_C,superfamily_ARM-type_fold	p.R195H	ENST00000438925.2	37	c.584	CCDS7464.1	10	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662736	0.29515	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000437002;ENST00000422685	T;T;T;T;T	0.66099	2.29;2.29;-0.19;2.29;3.54	5.55	0.453	0.16639	Armadillo-like helical (1);Armadillo-type fold (1);	0.614662	0.18262	N	0.146599	T	0.29914	0.0748	N	0.03608	-0.345	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.02743	-1.1116	10	0.20046	T	0.44	.	4.7562	0.13085	0.0:0.3306:0.1628:0.5066	.	195;195	Q96T76-5;Q96T76	.;MMS19_HUMAN	H	195;195;195;174;195;234	ENSP00000412698:R195H;ENSP00000359818:R195H;ENSP00000320059:R195H;ENSP00000409425:R195H;ENSP00000391765:R234H	ENSP00000320059:R195H	R	-	2	0	MMS19	99226620	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	1.637000	0.37155	0.039000	0.15632	-0.145000	0.13849	CGC	MMS19	-	superfamily_ARM-type_fold	ENSG00000155229		0.498	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS19	HGNC	protein_coding	OTTHUMT00000049706.2	-	0	64	0	C			99236630	-1	tier1	-	no_errors	ENST00000370782	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.955	T	T	99236630	C	T	99236630	3	4	95	1	0	0	0	0	1	0	0	0	9710	768	27	1	2608	1	MMS19	10	99236630	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	22381998	99236630	36298117	173	27352											
FAM160B1	57700	genome.wustl.edu	37	chr10	116602761	116602761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagatacattaaaaggtcagGattccttgtcaacagataca	17	10	7	7	0	2	2	2	0	0	2	3	3	3	3	1	2	3	0	1	2	6	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:116602761G>T	ENST00000369248.4	+	6	927	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	FAM160B1_ENST00000369250.3_Missense_Mutation_p.D198Y	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	198								p.D198Y(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						AAAAGGTCAGGATTCCTTGTC	0.378																																																	2	Substitution - Missense(2)	lung(2)											91	79	83					10																	116602761		2203	4300	6503	SO:0001583	missense	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.592G>T	10.37:g.116602761G>T	ENSP00000358251:p.Asp198Tyr		Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	pfam_RetinoicA-induced_16-like	p.D198Y	ENST00000369248.4	37	c.592	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373241	0.61624	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.15372	2.43;2.43	5.75	5.75	0.90469	.	0.395239	0.33253	N	0.005106	T	0.30947	0.0781	L	0.50333	1.59	0.80722	D	1	B;B	0.30193	0.203;0.272	P;B	0.44732	0.459;0.235	T	0.04840	-1.0923	10	0.72032	D	0.01	-10.6485	18.1307	0.89600	0.0:0.0:1.0:0.0	.	198;198	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	Y	198	ENSP00000358251:D198Y;ENSP00000358253:D198Y	ENSP00000358251:D198Y	D	+	1	0	FAM160B1	116592751	0.982000	0.34865	0.710000	0.30468	0.977000	0.68977	4.336000	0.59304	2.732000	0.93576	0.655000	0.94253	GAT	FAM160B1	-	pfam_RetinoicA-induced_16-like	ENSG00000151553		0.378	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1		0	51	0	G	XM_049351		116602761	1			no_errors	ENST00000369248	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.998	T	T	116602761	G	T	116602761	3	4	95	1	0	0	0	0	1	0	0	0	5489	1174	41	3	614	3	FAM160B1	10	116602761	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	17366131	116602761	18931986	174	27353											
EIF3A	8661	genome.wustl.edu	37	chr10	120817707	120817707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcagactctcaaggcgctCttttctctcctcaattgtct	7	16	5	13	1	6	1	3	0	4	1	9	1	7	1	1	1	0	1	1	1	2	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:120817707C>T	ENST00000369144.3	-	12	1865	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	SNORA19_ENST00000410656.1_RNA|SNORA19_ENST00000384737.1_RNA|EIF3A_ENST00000541549.1_Missense_Mutation_p.E546K	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCAAGGCGCTCTTTTCTCTCC	0.498																																																	0													54	48	50					10																	120817707		2203	4300	6503	SO:0001583	missense	0			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1738G>A	10.37:g.120817707C>T	ENSP00000358140:p.Glu580Lys		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.E580K	ENST00000369144.3	37	c.1738	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748130	0.89663	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.51071	0.72;0.72	5.5	5.5	0.81552	.	0.000000	0.39475	N	0.001344	T	0.73353	0.3576	M	0.85197	2.74	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.75642	-0.3247	10	0.54805	T	0.06	-23.456	19.775	0.96388	0.0:1.0:0.0:0.0	.	580	Q14152	EIF3A_HUMAN	K	580;546	ENSP00000358140:E580K;ENSP00000438178:E546K	ENSP00000358140:E580K	E	-	1	0	EIF3A	120807697	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.741000	0.84997	2.741000	0.93983	0.585000	0.79938	GAG	EIF3A	-	NULL	ENSG00000107581		0.498	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	-	0	49	0	C	NM_003750		120817707	-1	tier1	-	no_errors	ENST00000369144	ensembl	human	known	74_37	missense	42.59	31	23	SNP	1.000	T	T	120817707	C	T	120817707	3	4	95	1	0	0	0	0	1	0	0	0	5026	922	32	3	2454	3	EIF3A	10	120817707	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	4214946	120817707	14717040	175	27354											
TACC2	10579	genome.wustl.edu	37	chr10	123846789	123846789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaagaggccgtggcccaaGacagaattccttctggaaag	13	6	13	9	1	1	4	0	0	1	4	2	6	2	5	3	3	0	0	3	3	4	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:123846789G>A	ENST00000369005.1	+	4	5114	c.4774G>A	c.(4774-4776)Gac>Aac	p.D1592N	TACC2_ENST00000453444.2_Missense_Mutation_p.D1592N|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.D1592N|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1592N|TACC2_ENST00000334433.3_Missense_Mutation_p.D1592N	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1592					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.D1592Y(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTGGCCCAAGACAGAATTCC	0.582																																																	1	Substitution - Missense(1)	large_intestine(1)											64	59	61					10																	123846789		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.4774G>A	10.37:g.123846789G>A	ENSP00000358001:p.Asp1592Asn		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.D1592N	ENST00000369005.1	37	c.4774	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246531	0.39697	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.05025	3.51;3.74;3.53;3.51;3.74	5.01	0.931	0.19460	.	0.474213	0.15732	N	0.247343	T	0.04092	0.0114	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14805	0.011;0.011;0.002	B;B;B	0.11329	0.006;0.006;0.003	T	0.37776	-0.9691	10	0.72032	D	0.01	-4.6369	5.1729	0.15120	0.2462:0.149:0.6047:0.0	.	1592;1592;1592	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	N	1592;1592;1592;1592;1592;1582	ENSP00000358001:D1592N;ENSP00000424467:D1592N;ENSP00000427618:D1592N;ENSP00000334280:D1592N;ENSP00000395048:D1592N	ENSP00000334280:D1592N	D	+	1	0	TACC2	123836779	0.002000	0.14202	0.000000	0.03702	0.146000	0.21551	0.601000	0.24119	-0.092000	0.12417	0.551000	0.68910	GAC	TACC2	-	NULL	ENSG00000138162		0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1		0	21	0	G			123846789	1			no_errors	ENST00000334433	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.000	A	A	123846789	G	A	123846789	3	1	95	1	0	0	0	0	1	0	0	0	15549	942	33	3	4784	3	TACC2	10	123846789	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	3029082	123846789	11687958	176	27355											
FRG2B	441581	genome.wustl.edu	37	chr10	135438978	135438978	+	Frame_Shift_Del	DEL	C	C	-																															gacctatgccgcttgctgcgCccagtgcaagccctggaacg																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr10:135438978delC	ENST00000425520.1	-	4	514	c.462delG	c.(460-462)gggfs	p.G154fs	FRG2B_ENST00000443774.1_Frame_Shift_Del_p.G155fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	154						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTTGCTGCGCCCAGTGCAAG	0.522																																																	0													123	140	134					10																	135438978		2199	4299	6498	SO:0001589	frameshift_variant	0			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.462delG	10.37:g.135438978delC	ENSP00000401310:p.Gly154fs		Q5VSQ1	Frame_Shift_Del	DEL	NULL	p.R155fs	ENST00000425520.1	37	c.462	CCDS44502.1	10																																																																																			FRG2B	-	NULL	ENSG00000225899		0.522	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1		0	152	0	C	NM_001080998		135438978	-1			no_errors	ENST00000425520	ensembl	human	known	74_37	frame_shift_del	7.41	100	8	DEL	0.034	0	-	135438978	C	-	135438978	7	5	95	1	0	1	0	1	0	0	0	0	6071	726	26	0	377	0	FRG2B	10	135438978	Frame_Shift_Del	DEL	C	TCGA-L5-A8NW-01A-11D-A37C-09	11592189	135438978	95769	177	27356											
TRIM68	55128	genome.wustl.edu	37	chr11	4621685	4621685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgggcctcataatccaCgaagattcccacccggcgag	10	7	10	14	3	2	1	2	0	0	1	4	3	4	1	4	2	0	0	4	2	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:4621685C>T	ENST00000300747.5	-	7	1568	c.1279G>A	c.(1279-1281)Gtg>Atg	p.V427M		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	427	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCATAATCCACGAAGATTCCC	0.567																																																	0													97	82	87					11																	4621685		2201	4298	6499	SO:0001583	missense	0			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1279G>A	11.37:g.4621685C>T	ENSP00000300747:p.Val427Met		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.V427M	ENST00000300747.5	37	c.1279	CCDS31356.1	11	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505843	0.26949	.	.	ENSG00000167333	ENST00000300747;ENST00000544055	T	0.63096	-0.02	5.52	0.123	0.14709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.181162	0.26911	N	0.021875	T	0.64305	0.2586	M	0.73598	2.24	0.22610	N	0.998936	D	0.53885	0.963	P	0.50896	0.653	T	0.58493	-0.7627	10	0.87932	D	0	.	6.7088	0.23266	0.2239:0.2463:0.5298:0.0	.	427	Q6AZZ1	TRI68_HUMAN	M	427;148	ENSP00000300747:V427M	ENSP00000300747:V427M	V	-	1	0	TRIM68	4578261	1.000000	0.71417	0.998000	0.56505	0.353000	0.29299	0.654000	0.24918	0.112000	0.17975	-0.311000	0.09066	GTG	TRIM68	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000167333		0.567	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1		0	28	0	C	NM_018073		4621685	-1			no_errors	ENST00000300747	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.999	T	T	4621685	C	T	4621685	3	4	95	1	0	0	0	0	1	0	0	0	16589	536	19	1	182	1	TRIM68	11	4621685	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09		4621685	130384831	178	27357											
SLC6A5	9152	genome.wustl.edu	37	chr11	20623034	20623034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacgcgctgcactgtaaGatcccttttctgcgaggccc	7	9	11	14	3	1	1	0	0	1	1	2	2	2	1	2	2	3	4	2	2	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:20623034G>T	ENST00000525748.1	+	2	636	c.363G>T	c.(361-363)aaG>aaT	p.K121N		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	121					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCACTGTAAGATCCCTTTTC	0.672																																																	0													54	54	54					11																	20623034		2203	4300	6503	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.363G>T	11.37:g.20623034G>T	ENSP00000434364:p.Lys121Asn		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.K121N	ENST00000525748.1	37	c.363	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295422	0.60086	.	.	ENSG00000165970	ENST00000525748	T	0.73152	-0.72	5.7	3.81	0.43845	.	1.562850	0.03004	N	0.148597	T	0.58793	0.2147	N	0.14661	0.345	0.35803	D	0.823298	B	0.23058	0.079	B	0.20384	0.029	T	0.53165	-0.8477	10	0.72032	D	0.01	.	9.8455	0.41024	0.1696:0.0:0.8304:0.0	.	121	Q9Y345	SC6A5_HUMAN	N	121	ENSP00000434364:K121N	ENSP00000298923:K121N	K	+	3	2	SLC6A5	20579610	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	1.766000	0.38491	2.695000	0.91970	0.462000	0.41574	AAG	SLC6A5	-	NULL	ENSG00000165970		0.672	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0	79	0	G	NM_004211		20623034	1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.998	T	T	20623034	G	T	20623034	3	4	95	1	0	0	0	0	1	0	0	0	14732	933	33	3	369	3	SLC6A5	11	20623034	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	16001349	20623034	114383482	179	27358											
SLC1A2	6506	genome.wustl.edu	37	chr11	35308439	35308439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacgaatctagtcacaCgcttatcaatccccagattt	13	10	7	11	2	3	1	2	0	1	1	4	4	4	2	2	1	0	1	2	1	5	3	rs374504230		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:35308439C>T	ENST00000278379.3	-	8	1433	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	SLC1A2_ENST00000395753.1_Missense_Mutation_p.R375H|SLC1A2_ENST00000395750.1_Missense_Mutation_p.R375H|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000606205.1_Missense_Mutation_p.R384H|SLC1A2_ENST00000479543.1_5'Flank	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	384					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TCTAGTCACACGCTTATCAAT	0.463																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)												0								C	HIS/ARG,HIS/ARG	0,4404		0,0,2202	193	182	185		1124,1151	5.6	1	11		185	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	SLC1A2	NM_001195728.1,NM_004171.3	29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	375/566,384/575	35308439	1,12999	2202	4298	6500	SO:0001583	missense	0			AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"Solute carriers"	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1151G>A	11.37:g.35308439C>T	ENSP00000278379:p.Arg384His		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R384H	ENST00000278379.3	37	c.1151	CCDS31459.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.551747|5.551747	0.96501|0.96501	0.0|0.0	1.16E-4|1.16E-4	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.59772|.	0.24;0.24;0.24|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81936|0.81936	0.4928|0.4928	M|M	0.80028|0.80028	2.48|2.48	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	T|T	0.81360|0.81360	-0.0968|-0.0968	10|5	0.52906|.	T|.	0.07|.	-11.0153|-11.0153	20.024|20.024	0.97514|0.97514	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	384;384|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	H|M	384;375;375|102	ENSP00000278379:R384H;ENSP00000379099:R375H;ENSP00000379102:R375H|.	ENSP00000278379:R384H|.	R|V	-|-	2|1	0|0	SLC1A2|SLC1A2	35265015|35265015	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.918000|0.918000	0.54935|0.54935	7.776000|7.776000	0.85560|0.85560	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	CGT|GTG	SLC1A2	-	pfam_Na-dicarboxylate_symporter	ENSG00000110436		0.463	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	SLC1A2	HGNC	protein_coding	OTTHUMT00000258181.1	-	0	32	0	C	NM_004171		35308439	-1	tier1	-	no_errors	ENST00000278379	ensembl	human	known	74_37	missense	60.29	27	41	SNP	1.000	T	T	35308439	C	T	35308439	3	4	95	1	0	0	0	0	1	0	0	0	14477	536	19	1	589	1	SLC1A2	11	35308439	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	14685405	35308439	99698077	180	27359											
ZNF408	79797	genome.wustl.edu	37	chr11	46726399	46726399	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccacaagccctttctttgCactgagtgtggcaagagcta	9	10	11	11	0	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	3	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:46726399C>G	ENST00000311764.2	+	5	1379	c.1149C>G	c.(1147-1149)tgC>tgG	p.C383W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTTCTTTGCACTGAGTGTG	0.582																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													59	58	59					11																	46726399		2201	4299	6500	SO:0001583	missense	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"Zinc fingers, C2H2-type"	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1149C>G	11.37:g.46726399C>G	ENSP00000309606:p.Cys383Trp			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C383W	ENST00000311764.2	37	c.1149	CCDS7923.1	11	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388783	0.61956	.	.	ENSG00000175213	ENST00000311764	T	0.59772	0.24	5.45	3.59	0.41128	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000212	T	0.82204	0.4986	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84493	0.0612	10	0.87932	D	0	-23.7421	9.4688	0.38829	0.0:0.7833:0.0:0.2167	.	375;383	B4DXY4;Q9H9D4	.;ZN408_HUMAN	W	383	ENSP00000309606:C383W	ENSP00000309606:C383W	C	+	3	2	ZNF408	46682975	0.999000	0.42202	0.995000	0.50966	0.968000	0.65278	1.687000	0.37680	0.790000	0.33803	0.467000	0.42956	TGC	ZNF408	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000175213		0.582	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	-	0	43	0	C	NM_024741		46726399	1	tier1	-	no_errors	ENST00000311764	ensembl	human	known	74_37	missense	14.75	52	9	SNP	1.000	G	G	46726399	C	G	46726399	3	3	95	1	0	0	0	0	1	0	0	0	17936	718	25	5	1199	5	ZNF408	11	46726399	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	11417960	46726399	88280117	181	27360											
OR4X1	390113	genome.wustl.edu	37	chr11	48286288	48286288	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaggaatgctgaagtGaaaaatgccatgaggagatt	14	10	11	6	0	1	4	1	3	0	1	2	6	2	5	2	2	2	1	2	2	4	2	rs140713653		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:48286288G>T	ENST00000320048.1	+	1	876	c.876G>T	c.(874-876)gtG>gtT	p.V292V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V292V(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGCTGAAGTGAAAAATGCCA	0.413																																																	1	Substitution - coding silent(1)	skin(1)											51	51	51					11																	48286288		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"GPCR / Class A : Olfactory receptors"	14854	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily X, member 1"				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.876G>T	11.37:g.48286288G>T			Q6IF74	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V292	ENST00000320048.1	37	c.876	CCDS31487.1	11																																																																																			OR4X1	-	prints_GPCR_Rhodpsn	ENSG00000176567		0.413	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1		0	28	0	G	NM_001004726		48286288	1			no_errors	ENST00000320048	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.008	T	T	48286288	G	T	48286288	2	4	95	1	0	0	0	0	0	0	0	1	11123	1277	45	3		3	OR4X1	11	48286288	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1559889	48286288	86720228	182	27361											
FOLH1	2346	genome.wustl.edu	37	chr11	49175865	49175865	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatactttcttaaaactacAgcataatctcgacaatcaaa	17	11	3	10	1	3	0	1	0	2	0	4	1	3	0	0	0	4	2	0	0	7	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:49175865A>T	ENST00000256999.2	-	16	2063	c.1803T>A	c.(1801-1803)gcT>gcA	p.A601A	FOLH1_ENST00000533034.1_Silent_p.A586A|FOLH1_ENST00000340334.7_Silent_p.A586A|FOLH1_ENST00000356696.3_Silent_p.A601A|FOLH1_ENST00000343844.4_Silent_p.A293A	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	601					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TTAAAACTACAGCATAATCTC	0.398																																																	0													122	105	110					11																	49175865		2201	4297	6498	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1803T>A	11.37:g.49175865A>T			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.A601	ENST00000256999.2	37	c.1803	CCDS7946.1	11																																																																																			FOLH1	-	superfamily_TFR-like_dimer_dom	ENSG00000086205		0.398	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	44	0	A	NM_004476		49175865	-1	tier1	-	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	41.18	30	21	SNP	0.838	T	T	49175865	A	T	49175865	2	4	95	1	0	0	0	0	0	0	0	1	6001	175	7	5		5	FOLH1	11	49175865	Silent	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	889577	49175865	85830651	183	27362											
OR5D14	219436	genome.wustl.edu	37	chr11	55563643	55563643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctgctgcttttcagcttCgccaccttcaatgagatgtg	7	13	8	13	1	2	1	2	1	0	1	3	2	2	1	3	0	3	3	3	0	1	4	rs375849432		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:55563643C>T	ENST00000335605.1	+	1	612	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTTCAGCTTCGCCACCTTCA	0.438																																																	0								C		1,4399	2.1+/-5.4	0,1,2199	206	196	200		612	-2.3	0.2	11		200	0,8592		0,0,4296	no	coding-synonymous	OR5D14	NM_001004735.1		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		204/315	55563643	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"GPCR / Class A : Olfactory receptors"	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.612C>T	11.37:g.55563643C>T			Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F204	ENST00000335605.1	37	c.612	CCDS31508.1	11																																																																																			OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.438	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0	127	0	C	NM_001004735		55563643	1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	silent	59.74	62	92	SNP	0.008	T	T	55563643	C	T	55563643	2	4	95	1	0	0	0	0	0	0	0	1	11194	883	31	1		1	OR5D14	11	55563643	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	6387778	55563643	79442873	184	27363											
OR5T1	390155	genome.wustl.edu	37	chr11	56043680	56043680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaatgaaattaggcatgTcttttgtaatatgcctcctc	11	15	6	9	0	1	1	0	1	1	0	4	1	3	1	3	1	1	2	3	1	5	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:56043680T>C	ENST00000313033.2	+	1	652	c.566T>C	c.(565-567)gTc>gCc	p.V189A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					ATTAGGCATGTCTTTTGTAAT	0.403																																																	0													247	230	236					11																	56043680		2201	4296	6497	SO:0001583	missense	0			AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"GPCR / Class A : Olfactory receptors"	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.566T>C	11.37:g.56043680T>C	ENSP00000323612:p.Val189Ala		B2RNM9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V189A	ENST00000313033.2	37	c.566	CCDS31525.1	11	.	.	.	.	.	.	.	.	.	.	T	13.45	2.241884	0.39598	.	.	ENSG00000181698	ENST00000313033	T	0.00099	8.73	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.478727	0.17402	N	0.175494	T	0.00210	0.0006	L	0.32530	0.975	0.09310	N	1	P	0.45902	0.868	P	0.54544	0.755	T	0.52741	-0.8535	10	0.87932	D	0	.	7.6465	0.28323	0.1895:0.0:0.0:0.8105	.	189	Q8NG75	OR5T1_HUMAN	A	189	ENSP00000323612:V189A	ENSP00000323612:V189A	V	+	2	0	OR5T1	55800256	0.001000	0.12720	0.006000	0.13384	0.048000	0.14542	1.099000	0.31013	1.583000	0.49898	0.381000	0.24937	GTC	OR5T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181698		0.403	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T1	HGNC	protein_coding	OTTHUMT00000391600.1	-	0	67	0	T	NM_001004745		56043680	1	tier1	-	no_errors	ENST00000313033	ensembl	human	known	74_37	missense	53.98	52	61	SNP	0.001	C	C	56043680	T	C	56043680	3	2	95	1	0	0	0	0	1	0	0	0	11220	1667	58	4	568	4	OR5T1	11	56043680	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	480037	56043680	78962836	185	27364											
FAM111A	63901	genome.wustl.edu	37	chr11	58919796	58919796	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttatgctttcaaaggaGaaaccatcaaggatgcactg	13	11	10	7	0	2	1	2	0	0	1	2	3	2	2	1	2	3	3	1	2	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:58919796G>T	ENST00000528737.1	+	5	3473	c.655G>T	c.(655-657)Gaa>Taa	p.E219*	FAM111A_ENST00000420244.1_Nonsense_Mutation_p.E219*|FAM111A_ENST00000531147.1_Nonsense_Mutation_p.E219*|FAM111A_ENST00000361723.3_Nonsense_Mutation_p.E219*|FAM111A_ENST00000533703.1_Nonsense_Mutation_p.E219*			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	219					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTCAAAGGAGAAACCATCAA	0.388																																																	0													119	120	120					11																	58919796		2201	4295	6496	SO:0001587	stop_gained	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.655G>T	11.37:g.58919796G>T	ENSP00000434435:p.Glu219*		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Nonsense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.E219*	ENST00000528737.1	37	c.655	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.605233	0.97701	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	.	.	.	5.8	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-12.7998	14.4194	0.67173	0.0:0.1478:0.8522:0.0	.	.	.	.	X	219	.	ENSP00000355264:E219X	E	+	1	0	FAM111A	58676372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.214000	0.58527	1.570000	0.49709	0.650000	0.86243	GAA	FAM111A	-	NULL	ENSG00000166801		0.388	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1		0	69	0	G	NM_022074		58919796	1			no_errors	ENST00000361723	ensembl	human	known	74_37	nonsense	6.82	41	3	SNP	1.000	T	T	58919796	G	T	58919796	4	4	95	1	0	0	0	0	0	1	0	0	5418	943	33	3	661	3	FAM111A	11	58919796	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2876116	58919796	76086720	186	27365											
FAM111A	63901	genome.wustl.edu	37	chr11	58919900	58919900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaccattttagaaagcacCcagccagttgatgaattaga	15	9	8	9	0	0	4	0	2	0	2	0	5	0	4	3	0	2	2	3	0	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:58919900C>T	ENST00000528737.1	+	5	3577	c.759C>T	c.(757-759)acC>acT	p.T253T	FAM111A_ENST00000420244.1_Silent_p.T253T|FAM111A_ENST00000531147.1_Silent_p.T253T|FAM111A_ENST00000361723.3_Silent_p.T253T|FAM111A_ENST00000533703.1_Silent_p.T253T			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	253					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TAGAAAGCACCCAGCCAGTTG	0.428																																																	0													97	96	97					11																	58919900		2201	4295	6496	SO:0001819	synonymous_variant	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.759C>T	11.37:g.58919900C>T			A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.T253	ENST00000528737.1	37	c.759	CCDS7973.1	11																																																																																			FAM111A	-	NULL	ENSG00000166801		0.428	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1		0	26	0	C	NM_022074		58919900	1			no_errors	ENST00000361723	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.025	T	T	58919900	C	T	58919900	2	4	95	1	0	0	0	0	0	0	0	1	5418	610	22	3		3	FAM111A	11	58919900	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	104	58919900	76086616	187	27366											
MS4A10	341116	genome.wustl.edu	37	chr11	60565961	60565961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagagtgtgattcaaggCgacgcacaacacaagcaaca	16	5	9	11	2	1	2	1	1	0	1	1	3	1	2	1	1	4	2	1	1	5	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:60565961C>T	ENST00000308287.1	+	7	792	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	232						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TGATTCAAGGCGACGCACAAC	0.547																																																	0													115	109	111					11																	60565961		2203	4299	6502	SO:0001819	synonymous_variant	0			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.696C>T	11.37:g.60565961C>T			B2RP45|Q96PG3	Silent	SNP	pfam_CD20-like	p.G232	ENST00000308287.1	37	c.696	CCDS7992.1	11																																																																																			MS4A10	-	NULL	ENSG00000172689		0.547	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	HGNC	protein_coding	OTTHUMT00000395619.1	-	0	60	0	C	NM_206893		60565961	1	tier1	-	no_errors	ENST00000308287	ensembl	human	known	74_37	silent	13.95	37	6	SNP	0.000	T	T	60565961	C	T	60565961	2	4	95	1	0	0	0	0	0	0	0	1	9893	755	27	1		1	MS4A10	11	60565961	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1646061	60565961	74440555	188	27367											
C11orf9	745	genome.wustl.edu	37	chr11	61547319	61547319	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttggtcctcagtcatcGtccgtggttccggaccaggc	4	11	11	15	3	3	0	2	0	1	0	7	1	6	1	5	4	0	1	5	4	0	2	rs371064279		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:61547319G>T	ENST00000278836.5	+	17	2349	c.2253G>T	c.(2251-2253)tcG>tcT	p.S751S	MYRF_ENST00000265460.5_Silent_p.S742S|MYRF_ENST00000389602.4_Silent_p.S142S|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Silent_p.S397S	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	751					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTCAGTCATCGTCCGTGGTTC	0.617																																																	0													81	75	77					11																	61547319		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2253G>T	11.37:g.61547319G>T			O43582|Q9P1Q6	Silent	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.S751	ENST00000278836.5	37	c.2253	CCDS44622.1	11																																																																																			MYRF	-	NULL	ENSG00000124920		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2		0	53	0	G	NM_013279		61547319	1			no_errors	ENST00000278836	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.000	T	T	61547319	G	T	61547319	2	4	95	1	0	0	0	0	0	0	0	1	1676	1132	40	2		2	C11orf9	11	61547319	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	981358	61547319	73459197	189	27368											
TIGD3	220359	genome.wustl.edu	37	chr11	65124020	65124020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccctggttagagtggttGgcacagtttgaccgggacat	8	11	13	9	1	0	2	0	1	0	1	1	3	1	3	3	4	0	4	3	4	1	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:65124020G>T	ENST00000309880.5	+	2	948	c.741G>T	c.(739-741)ttG>ttT	p.L247F		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	247	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TAGAGTGGTTGGCACAGTTTG	0.657																																																	0													69	76	74					11																	65124020		2201	4297	6498	SO:0001583	missense	0				CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.741G>T	11.37:g.65124020G>T	ENSP00000308354:p.Leu247Phe			Missense_Mutation	SNP	pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L247F	ENST00000309880.5	37	c.741	CCDS8101.1	11	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432226	0.62844	.	.	ENSG00000173825	ENST00000309880	T	0.63744	-0.06	3.94	3.94	0.45596	.	.	.	.	.	T	0.72195	0.3430	L	0.59436	1.845	0.36890	D	0.889864	D	0.76494	0.999	D	0.83275	0.996	T	0.72207	-0.4360	9	0.25106	T	0.35	-14.0178	11.7425	0.51801	0.0:0.0:1.0:0.0	.	247	Q6B0B8	TIGD3_HUMAN	F	247	ENSP00000308354:L247F	ENSP00000308354:L247F	L	+	3	2	TIGD3	64880596	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.682000	0.37628	2.217000	0.71921	0.456000	0.33151	TTG	TIGD3	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000173825		0.657	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD3	HGNC	protein_coding	OTTHUMT00000387310.1		0	72	0	G	NM_145719		65124020	1			no_errors	ENST00000309880	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	65124020	G	T	65124020	3	4	95	1	0	0	0	0	1	0	0	0	15944	1339	47	3	743	3	TIGD3	11	65124020	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	3576701	65124020	69882496	190	27369											
PELI3	246330	genome.wustl.edu	37	chr11	66238737	66238737	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatggttgtctggcaagtggGgacaagggccgccggcgaag	9	6	18	8	3	1	0	0	0	1	0	1	2	1	1	2	6	0	2	2	6	4	1	rs138149573		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:66238737G>T	ENST00000320740.7	+	4	409	c.249G>T	c.(247-249)ggG>ggT	p.G83G	CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000349459.6_Silent_p.G59G|PELI3_ENST00000524466.1_Silent_p.G83G|CTD-3074O7.5_ENST00000602951.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	83					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGGCAAGTGGGGACAAGGGCC	0.597																																																	0																																										SO:0001819	synonymous_variant	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"Pellino homologs"	30010	protein-coding gene	gene with protein product		609827	"pellino homolog 3 (Drosophila)"			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.249G>T	11.37:g.66238737G>T			Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	pfam_Pellino_fam	p.G83	ENST00000320740.7	37	c.249	CCDS31615.1	11																																																																																			PELI3	-	pfam_Pellino_fam	ENSG00000174516		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	-	0	50	0	G	NM_145065		66238737	1	tier1	-	no_errors	ENST00000320740	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.902	T	T	66238737	G	T	66238737	2	4	95	1	0	0	0	0	0	0	0	1	11762	1219	43	3		3	PELI3	11	66238737	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1114717	66238737	68767779	191	27370											
RBM4	5936	genome.wustl.edu	37	chr11	66411101	66411101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaatacggagcagtgcGtacgccttacaccatgagct	11	8	11	11	3	0	2	0	2	0	0	0	3	0	3	2	1	7	4	2	1	4	3	rs577949918		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:66411101G>A	ENST00000409406.1	+	2	1370	c.593G>A	c.(592-594)cGt>cAt	p.R198H	RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.R198H|RBM4_ENST00000503028.2_Missense_Mutation_p.R198H|RBM4_ENST00000310092.7_Missense_Mutation_p.R198H|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.R173H|RBM4_ENST00000514361.3_Missense_Mutation_p.R173H|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	198	Interaction with TNPO3.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GGAGCAGTGCGTACGCCTTAC	0.547																																																	0													78	86	84					11																	66411101		2190	4291	6481	SO:0001583	missense	0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"Zinc fingers, CCHC domain containing", "RNA binding motif (RRM) containing"	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.593G>A	11.37:g.66411101G>A	ENSP00000386894:p.Arg198His		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.R198H	ENST00000409406.1	37	c.593	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407698	0.42715	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.50001	0.76;1.61;1.61;1.61;1.61	6.06	6.06	0.98353	.	0.276195	0.32041	U	0.006667	T	0.43919	0.1269	N	0.22421	0.69	0.41438	D	0.987905	D;B	0.60160	0.987;0.014	P;B	0.51193	0.662;0.003	T	0.31420	-0.9944	10	0.44086	T	0.13	-2.0718	12.9848	0.58586	0.0:0.0:0.8387:0.1613	.	173;198	B0LM41;Q9BWF3	.;RBM4_HUMAN	H	173;198;198;198;198;198	ENSP00000388552:R173H;ENSP00000425760:R198H;ENSP00000309166:R198H;ENSP00000386561:R198H;ENSP00000386894:R198H	ENSP00000388552:R173H	R	+	2	0	RBM4;RBM14-RBM4	66167677	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.555000	0.60767	2.882000	0.98803	0.655000	0.94253	CGT	RBM4	-	NULL	ENSG00000173933		0.547	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1	-	0	39	0	G	NM_002896		66411101	1	tier1	-	no_errors	ENST00000310092	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	A	A	66411101	G	A	66411101	3	1	95	1	0	0	0	0	1	0	0	0	13179	1145	40	1	599	1	RBM4	11	66411101	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	172364	66411101	68595415	192	27371											
SHANK2	22941	genome.wustl.edu	37	chr11	70507826	70507826	+	Intron	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaccattattgtagcccGtcatcatcaccgcggccgct	8	9	9	15	5	3	0	3	0	0	0	3	1	3	0	4	1	2	2	4	1	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:70507826G>A	ENST00000423696.2	-	6	753				SHANK2_ENST00000357171.3_Missense_Mutation_p.T16M|SHANK2_ENST00000409161.1_Missense_Mutation_p.T15M|SHANK2_ENST00000449116.2_Missense_Mutation_p.T16M|SHANK2_ENST00000449833.2_Missense_Mutation_p.T16M|SHANK2_ENST00000409530.1_Missense_Mutation_p.T15M|SHANK2_ENST00000338508.4_Intron			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATTGTAGCCCGTCATCATCAC	0.542																																																	0													131	133	132					11																	70507826		2200	4294	6494	SO:0001627	intron_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-43C>T	11.37:g.70507826G>A			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.T16M	ENST00000423696.2	37	c.47		11	.	.	.	.	.	.	.	.	.	.	.	11.69	1.713520	0.30413	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000409530;ENST00000449116;ENST00000357171	T;T;T;T;T	0.56776	2.35;2.35;0.85;0.44;0.85	4.56	3.56	0.40772	.	.	.	.	.	T	0.26666	0.0652	N	0.08118	0	0.20873	N	0.999834	B;B	0.16396	0.017;0.007	B;B	0.09377	0.004;0.004	T	0.16364	-1.0405	9	0.49607	T	0.09	.	0.2499	0.00204	0.2179:0.1815:0.2799:0.3207	.	16;16	B7ZKU9;Q9UPX8-4	.;.	M	16;15;15;16;16	ENSP00000399423:T16M;ENSP00000386491:T15M;ENSP00000387324:T15M;ENSP00000394939:T16M;ENSP00000349694:T16M	ENSP00000349694:T16M	T	-	2	0	SHANK2	70185474	1.000000	0.71417	0.991000	0.47740	0.952000	0.60782	1.190000	0.32126	0.768000	0.33290	0.491000	0.48974	ACG	SHANK2	-	NULL	ENSG00000162105		0.542	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0	41	0	G	NM_012309		70507826	-1			no_errors	ENST00000449833	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	70507826	G	A	70507826	1	1	95	0	1	0	0	0	0	0	0	0	14310	1145	40	1		1	SHANK2	11	70507826	Intron	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	4096725	70507826	64498690	193	27372											
DHCR7	1717	genome.wustl.edu	37	chr11	71155200	71155200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatgatgaagtagtagaCgatgaagggggcgaacagca	15	5	15	6	2	0	4	0	3	0	1	0	6	0	4	1	2	3	3	1	2	5	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:71155200C>T	ENST00000355527.3	-	4	436	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	DHCR7_ENST00000407721.2_Missense_Mutation_p.V54I	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	54					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.V54I(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						AAGTAGTAGACGATGAAGGGG	0.602									Smith-Lemli-Opitz syndrome																																								1	Substitution - Missense(1)	large_intestine(1)											59	47	51					11																	71155200		2200	4294	6494	SO:0001583	missense	0	Familial Cancer Database	SLOS type I & II	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"Smith-Lemli-Opitz syndrome"	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.160G>A	11.37:g.71155200C>T	ENSP00000347717:p.Val54Ile		B2R6Z2|O60492|O60717	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24	p.V54I	ENST00000355527.3	37	c.160	CCDS8200.1	11	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031339	0.54790	.	.	ENSG00000172893	ENST00000407721;ENST00000355527;ENST00000524694;ENST00000526780;ENST00000525346;ENST00000531364;ENST00000529990;ENST00000527452	D;D;D;D;D;D;D	0.97811	-4.55;-4.55;-4.01;-3.37;-3.21;-3.82;-2.99	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	D	0.96537	0.8870	L	0.39397	1.21	0.80722	D	1	D	0.64830	0.994	P	0.52031	0.688	D	0.95491	0.8569	10	0.30078	T	0.28	-35.7044	15.0473	0.71838	0.0:1.0:0.0:0.0	.	54	Q9UBM7	DHCR7_HUMAN	I	54;54;54;54;54;54;34;54	ENSP00000384739:V54I;ENSP00000347717:V54I;ENSP00000435668:V54I;ENSP00000435707:V54I;ENSP00000432589:V54I;ENSP00000435058:V34I;ENSP00000436007:V54I	ENSP00000347717:V54I	V	-	1	0	DHCR7	70832848	0.997000	0.39634	1.000000	0.80357	0.180000	0.23129	3.818000	0.55678	2.209000	0.71365	0.462000	0.41574	GTC	DHCR7	-	NULL	ENSG00000172893		0.602	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR7	HGNC	protein_coding	OTTHUMT00000394243.1		0	36	0	C	NM_001360		71155200	-1			no_errors	ENST00000355527	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	71155200	C	T	71155200	3	4	95	1	0	0	0	0	1	0	0	0	4491	536	19	1	1291	1	DHCR7	11	71155200	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	647374	71155200	63851316	194	27373											
ARRB1	408	genome.wustl.edu	37	chr11	74977319	74977319	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatacaatgtcgtcatcaCtggtgggagagacaaggaaa	16	7	11	7	1	2	1	2	0	0	1	3	4	2	3	0	3	1	0	0	3	5	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:74977319C>T	ENST00000420843.2	-	16	1243		c.e16-1		ARRB1_ENST00000360025.3_Splice_Site|CTD-2562J17.9_ENST00000529304.1_RNA|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTCGTCATCACTGGTGGGAGA	0.542																																																	0													134	104	115					11																	74977319		2200	4293	6493	SO:0001630	splice_region_variant	0			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.1146-1G>A	11.37:g.74977319C>T			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	SNP	-	e16-1	ENST00000420843.2	37	c.1146-1	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	C	18.90	3.722240	0.68959	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532447	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7292	0.62776	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARRB1	74654967	0.980000	0.34600	0.997000	0.53966	0.982000	0.71751	5.331000	0.65905	2.314000	0.78098	0.563000	0.77884	.	ARRB1	-	-	ENSG00000137486		0.542	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0	37	0	C	NM_004041	Intron	74977319	-1	tier1	-	no_errors	ENST00000393505	ensembl	human	known	74_37	splice_site	45.71	19	16	SNP	0.981	T	T	74977319	C	T	74977319	5	4	95	1	0	0	0	0	0	0	1	0	981	579	20	3	115	3	ARRB1	11	74977319	Splice_Site	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	3822119	74977319	60029197	195	27374											
ARRB1	408	genome.wustl.edu	37	chr11	74994330	74994330	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagggatggcagttcctgaCctcaaaggtgaaagggtaag	12	7	14	8	0	1	2	1	2	0	0	2	3	2	3	3	4	0	3	3	4	3	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:74994330C>T	ENST00000420843.2	-	5	452		c.e5+1		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						activation of MAPK activity (GO:0000187)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein ubiquitination (GO:0031397)|Notch signaling pathway (GO:0007219)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of GTPase activity (GO:0043547)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-Golgi vesicle-mediated transport (GO:0006892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)|transcription from RNA polymerase II promoter (GO:0006366)	basolateral plasma membrane (GO:0016323)|chromatin (GO:0000785)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|pseudopodium (GO:0031143)	angiotensin receptor binding (GO:0031701)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme inhibitor activity (GO:0004857)|GTPase activator activity (GO:0005096)|insulin-like growth factor receptor binding (GO:0005159)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGTTCCTGACCTCAAAGGTG	0.632																																																	0													52	54	53					11																	74994330		2200	4293	6493	SO:0001630	splice_region_variant	0			BC003636	CCDS31640.1, CCDS44684.1	11q13	2008-12-11			ENSG00000137486	ENSG00000137486			711	protein-coding gene	gene with protein product	"arrestin 2"	107940		ARR1		8486659	Standard	NM_004041		Approved		uc001owe.2	P49407	OTTHUMG00000165444	ENST00000420843.2:c.354+1G>A	11.37:g.74994330C>T			B6V9G8|O75625|O75630|Q2PP20|Q9BTK8	Splice_Site	SNP	-	e5+1	ENST00000420843.2	37	c.354+1	CCDS44684.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.447207	0.63178	.	.	ENSG00000137486	ENST00000420843;ENST00000393505;ENST00000360025;ENST00000532525	.	.	.	4.16	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0429	0.42169	0.0:0.899:0.0:0.101	.	.	.	.	.	-1	.	.	.	-	.	.	ARRB1	74671978	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	7.256000	0.78350	1.087000	0.41251	0.561000	0.74099	.	ARRB1	-	-	ENSG00000137486		0.632	ARRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARRB1	HGNC	protein_coding	OTTHUMT00000384092.3	-	0	29	0	C	NM_004041	Intron	74994330	-1	tier1	-	no_errors	ENST00000393505	ensembl	human	known	74_37	splice_site	30.30	23	10	SNP	1.000	T	T	74994330	C	T	74994330	5	4	95	1	0	0	0	0	0	0	1	0	981	521	18	3	949	3	ARRB1	11	74994330	Splice_Site	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	17011	74994330	60012186	196	27375											
MAML2	84441	genome.wustl.edu	37	chr11	95825153	95825153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagtggcaaaggtgacCttagcaaaggctggcttggt	10	9	15	7	0	0	2	0	2	0	0	0	2	0	2	1	5	1	5	1	5	4	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:95825153C>G	ENST00000524717.1	-	2	3326	c.2042G>C	c.(2041-2043)aGg>aCg	p.R681T		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	681					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAAGGTGACCTTAGCAAAGG	0.507			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													63	65	65					11																	95825153		2193	4293	6486	SO:0001583	missense	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2042G>C	11.37:g.95825153C>G	ENSP00000434552:p.Arg681Thr		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.R681T	ENST00000524717.1	37	c.2042	CCDS44714.1	11	.	.	.	.	.	.	.	.	.	.	C	9.736	1.163585	0.21538	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.45668	0.89;0.89	5.54	5.54	0.83059	.	0.419636	0.21181	N	0.078806	T	0.53190	0.1781	L	0.43152	1.355	0.29535	N	0.852493	D	0.57899	0.981	D	0.69824	0.966	T	0.44862	-0.9300	10	0.13470	T	0.59	-19.1964	14.9894	0.71374	0.0:1.0:0.0:0.0	.	681	Q8IZL2	MAML2_HUMAN	T	681	ENSP00000434552:R681T;ENSP00000412394:R681T	ENSP00000412394:R681T	R	-	2	0	MAML2	95464801	0.995000	0.38212	0.500000	0.27589	0.010000	0.07245	1.628000	0.37060	2.584000	0.87258	0.655000	0.94253	AGG	MAML2	-	NULL	ENSG00000184384		0.507	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	-	0	96	0	C			95825153	-1	tier1	-	no_errors	ENST00000524717	ensembl	human	known	74_37	missense	30.56	50	22	SNP	0.667	G	G	95825153	C	G	95825153	3	3	95	1	0	0	0	0	1	0	0	0	9244	681	24	5	1444	5	MAML2	11	95825153	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	20830823	95825153	39181363	197	27376											
JRKL	8690	genome.wustl.edu	37	chr11	96124568	96124568	+	Frame_Shift_Del	DEL	A	A	-																															gccagtctcttatttcagccAaaaaggtgcatggatggatc																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:96124568delA	ENST00000332349.4	+	2	1002	c.755delA	c.(754-756)caafs	p.Q252fs	CCDC82_ENST00000542662.1_5'Flank|JRKL_ENST00000458427.1_Frame_Shift_Del_p.Q252fs|CCDC82_ENST00000525786.1_5'Flank|JRKL_ENST00000546177.1_Intron	NM_001261833.1	NP_001248762.1	Q9Y4A0	JERKL_HUMAN	JRK-like	252	DDE.				central nervous system development (GO:0007417)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		tatttcagccaaaaaggtgca	0.393																																																	0													23	19	20					11																	96124568		1802	3395	5197	SO:0001589	frameshift_variant	0			AF004715	CCDS8308.1	11q21	2014-03-28	2014-03-28		ENSG00000183340	ENSG00000183340			6200	protein-coding gene	gene with protein product		603211	"erky (mouse) homolog-like", "jerky homolog-like (mouse)"			9240447	Standard	NM_003772		Approved	HHMJG	uc009ywu.4	Q9Y4A0	OTTHUMG00000154950	ENST00000332349.4:c.755delA	11.37:g.96124568delA	ENSP00000333350:p.Gln252fs		A8K3G4|B2RAJ3|Q32MC2	Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.G254fs	ENST00000332349.4	37	c.755	CCDS8308.1	11																																																																																			JRKL	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000183340		0.393	JRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JRKL	HGNC	protein_coding	OTTHUMT00000337775.2		0	50	0	A	NM_003772		96124568	1	tier1		no_errors	ENST00000332349	ensembl	human	known	74_37	frame_shift_del	10.00	27	3	DEL	1.000	-	-	96124568	A	-	96124568	7	5	95	1	0	1	0	1	0	0	0	0	7992	130	5	0	757	0	JRKL	11	96124568	Frame_Shift_Del	DEL	A	TCGA-L5-A8NW-01A-11D-A37C-09	299415	96124568	38881948	198	27377											
TRPC6	7225	genome.wustl.edu	37	chr11	101353851	101353851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatggtgaaggaggctgCgtgtgctacaaacttcatga	14	9	12	6	1	1	2	1	2	0	0	1	3	1	3	0	3	4	2	0	3	5	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:101353851C>T	ENST00000344327.3	-	5	1763	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T	TRPC6_ENST00000348423.4_Missense_Mutation_p.A331T|TRPC6_ENST00000360497.4_Missense_Mutation_p.A392T|TRPC6_ENST00000532133.1_Missense_Mutation_p.A447T	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	447					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.A447T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGAGGCTGCGTGTGCTACA	0.418																																					Colon(166;1315 1927 11094 12848 34731)												1	Substitution - Missense(1)	large_intestine(1)											105	95	98					11																	101353851		2203	4299	6502	SO:0001583	missense	0			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"Voltage-gated ion channels / Transient receptor potential cation channels"	12338	protein-coding gene	gene with protein product		603652	"focal segmental glomerulosclerosis 2"	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1339G>A	11.37:g.101353851C>T	ENSP00000340913:p.Ala447Thr		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.A447T	ENST00000344327.3	37	c.1339	CCDS8311.1	11	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319186	0.60524	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	L	0.48218	1.51	0.80722	D	1	D;P;D	0.89917	1.0;0.905;1.0	D;B;D	0.91635	0.999;0.346;0.998	T	0.50931	-0.8769	10	0.27785	T	0.31	-0.7414	19.431	0.94765	0.0:1.0:0.0:0.0	.	392;331;447	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	T	447;447;331;392	ENSP00000340913:A447T;ENSP00000435574:A447T;ENSP00000343672:A331T;ENSP00000353687:A392T	ENSP00000340913:A447T	A	-	1	0	TRPC6	100859061	1.000000	0.71417	0.850000	0.33497	0.989000	0.77384	7.818000	0.86416	2.584000	0.87258	0.591000	0.81541	GCA	TRPC6	-	tigrfam_TRP_channel	ENSG00000137672		0.418	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC6	HGNC	protein_coding	OTTHUMT00000394770.1		0	65	0	C	NM_004621		101353851	-1			no_errors	ENST00000344327	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	101353851	C	T	101353851	3	4	95	1	0	0	0	0	1	0	0	0	16631	768	27	1	1492	1	TRPC6	11	101353851	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	5229283	101353851	33652665	199	27378											
MMP8	4317	genome.wustl.edu	37	chr11	102587084	102587084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtgatagcatcaaatGtcaaactggggtcacagggt	11	10	14	6	0	3	1	3	1	0	0	3	1	3	1	0	4	2	1	0	4	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:102587084G>T	ENST00000236826.3	-	6	949	c.851C>A	c.(850-852)aCa>aAa	p.T284K		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	284					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGCATCAAATGTCAAACTGGG	0.368																																																	0													128	134	132					11																	102587084		2203	4299	6502	SO:0001583	missense	0			J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"matrix metalloproteinase 8 (neutrophil collagenase)"	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.851C>A	11.37:g.102587084G>T	ENSP00000236826:p.Thr284Lys		Q45F99	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.T284K	ENST00000236826.3	37	c.851	CCDS8320.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.30|10.30	1.313391|1.313391	0.23908|0.23908	.|.	.|.	ENSG00000118113|ENSG00000118113	ENST00000438475|ENST00000236826;ENST00000544383;ENST00000534942	.|T	.|0.13307	.|2.6	5.27|5.27	3.36|3.36	0.38483|0.38483	.|Hemopexin/matrixin (2);	.|0.454838	.|0.20564	.|N	.|0.089856	T|T	0.12263|0.12263	0.0298|0.0298	L|L	0.48935|0.48935	1.535|1.535	0.09310|0.09310	N|N	1|1	.|B;P;B	.|0.42961	.|0.275;0.795;0.026	.|B;B;B	.|0.37780	.|0.094;0.258;0.031	T|T	0.10086|0.10086	-1.0645|-1.0645	5|10	.|0.62326	.|D	.|0.03	.|.	9.319|9.319	0.37952|0.37952	0.0818:0.152:0.7662:0.0|0.0818:0.152:0.7662:0.0	.|.	.|284;219;284	.|A8K9E4;F5GXB5;P22894	.|.;.;MMP8_HUMAN	E|K	259|284;261;219	.|ENSP00000236826:T284K	.|ENSP00000236826:T284K	D|T	-|-	3|2	2|0	MMP8|MMP8	102092294|102092294	0.059000|0.059000	0.20769|0.20769	0.106000|0.106000	0.21319|0.21319	0.702000|0.702000	0.40608|0.40608	1.799000|1.799000	0.38824|0.38824	0.568000|0.568000	0.29311|0.29311	0.563000|0.563000	0.77884|0.77884	GAC|ACA	MMP8	-	superfamily_Hemopexin-like_dom,pirsf_Pept_M10A_Metazoans	ENSG00000118113		0.368	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP8	HGNC	protein_coding	OTTHUMT00000395223.1	-	0	125	0	G	NM_002424		102587084	-1	tier1	-	no_errors	ENST00000236826	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.040	T	T	102587084	G	T	102587084	3	4	95	1	0	0	0	0	1	0	0	0	9706	1377	48	3	572	3	MMP8	11	102587084	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1233233	102587084	32419432	200	27379											
DSCAML1	57453	genome.wustl.edu	37	chr11	117321308	117321308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagaagatggtgtacttgCggatcaccccgttgggcttg	9	10	13	9	2	1	2	1	0	0	2	1	3	1	3	2	3	3	3	2	3	3	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:117321308C>T	ENST00000321322.6	-	20	3846	c.3845G>A	c.(3844-3846)cGc>cAc	p.R1282H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1012H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1222	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Ig-like C2-type 10.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGTACTTGCGGATCACCCC	0.567																																																	0													60	56	57					11																	117321308		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3845G>A	11.37:g.117321308C>T	ENSP00000315465:p.Arg1282His		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R1282H	ENST00000321322.6	37	c.3845	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.307632	0.95629	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.57752	0.38;0.38	4.42	4.42	0.53409	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71685	0.3369	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.74262	-0.3722	9	0.54805	T	0.06	.	18.3455	0.90321	0.0:1.0:0.0:0.0	.	1222	Q8TD84	DSCL1_HUMAN	H	1012;1282;989	ENSP00000434335:R1012H;ENSP00000315465:R1282H	ENSP00000315465:R1282H	R	-	2	0	DSCAML1	116826518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.805000	0.69143	2.741000	0.93983	0.585000	0.79938	CGC	DSCAML1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000177103		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0	80	0	C	NM_020693		117321308	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	117321308	C	T	117321308	3	4	95	1	0	0	0	0	1	0	0	0	4783	768	27	1	2552	1	DSCAML1	11	117321308	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	14734224	117321308	17685208	201	27380											
MCAM	4162	genome.wustl.edu	37	chr11	119183561	119183561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagctcacagtaaaactGggcatctttgtcttctttaa	10	15	8	8	0	4	1	1	1	3	0	4	1	4	1	0	1	2	4	0	1	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr11:119183561G>T	ENST00000264036.4	-	6	672	c.658C>A	c.(658-660)Cag>Aag	p.Q220K	MCAM_ENST00000392814.1_Missense_Mutation_p.Q169K|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	220	Ig-like V-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTAAAACTGGGCATCTTTG	0.512																																																	0													119	117	118					11																	119183561		2199	4295	6494	SO:0001583	missense	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6934	protein-coding gene	gene with protein product	"Gicerin"	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.658C>A	11.37:g.119183561G>T	ENSP00000264036:p.Gln220Lys		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q220K	ENST00000264036.4	37	c.658	CCDS31690.1	11	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268799	0.40095	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.75154	-0.91;-0.91	5.69	5.69	0.88448	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61173	0.2326	N	0.24115	0.695	0.32283	N	0.567346	B	0.15930	0.015	B	0.19666	0.026	T	0.58487	-0.7628	9	0.12430	T	0.62	-11.0093	14.4173	0.67158	0.0:0.1472:0.8528:0.0	.	220	P43121	MUC18_HUMAN	K	220;169	ENSP00000264036:Q220K;ENSP00000376561:Q169K	ENSP00000264036:Q220K	Q	-	1	0	MCAM	118688771	0.944000	0.32072	1.000000	0.80357	0.986000	0.74619	1.769000	0.38522	2.681000	0.91329	0.561000	0.74099	CAG	MCAM	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000076706		0.512	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2		0	51	0	G			119183561	-1			no_errors	ENST00000264036	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.986	T	T	119183561	G	T	119183561	3	4	95	1	0	0	0	0	1	0	0	0	9406	1357	47	3	1326	3	MCAM	11	119183561	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1862253	119183561	15822955	202	27381											
CACNA2D4	93589	genome.wustl.edu	37	chr12	1993483	1993483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgaggtaagtgaaaactCggacctaacccacaagacac	17	5	8	11	1	0	3	0	2	0	1	1	4	0	4	2	2	2	1	2	2	6	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:1993483C>T	ENST00000382722.5	-	12	1639	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R362Q|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R362Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R426Q|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R426Q	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	426	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGTGAAAACTCGGACCTAACC	0.478																																					Colon(2;101 179 21030 23310 28141)												0													78	85	82					12																	1993483		2017	4193	6210	SO:0001583	missense	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1277G>A	12.37:g.1993483C>T	ENSP00000372169:p.Arg426Gln		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R426Q	ENST00000382722.5	37	c.1277	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.206269	0.95033	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.09163	3.01	5.27	5.27	0.74061	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.90082	3.085	0.80722	D	1	D	0.69078	0.997	P	0.59424	0.857	T	0.50118	-0.8865	10	0.87932	D	0	.	18.4934	0.90855	0.0:1.0:0.0:0.0	.	426	Q7Z3S7	CA2D4_HUMAN	Q	362;426;426	ENSP00000372169:R426Q	ENSP00000280663:R426Q	R	-	2	0	CACNA2D4	1863744	1.000000	0.71417	0.834000	0.33040	0.831000	0.47069	7.780000	0.85658	2.463000	0.83235	0.603000	0.83216	CGA	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000151062		0.478	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0	38	0	C			1993483	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T	T	1993483	C	T	1993483	3	4	95	1	0	0	0	0	1	0	0	0	2558	884	31	1	2244	1	CACNA2D4	12	1993483	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09		1993483	131858412	203	27382											
GALNT8	26290	genome.wustl.edu	37	chr12	4874626	4874626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgatcgctgcctgacaGaccctggcaaggcggagaag	10	6	14	11	2	0	4	0	2	0	2	1	5	0	4	2	3	1	2	2	3	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:4874626G>T	ENST00000252318.2	+	10	2012	c.1675G>T	c.(1675-1677)Gac>Tac	p.D559Y		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	559	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTGCCTGACAGACCCTGGCAA	0.443																																					Colon(108;631 1558 7270 20097 39846)												0													113	108	109					12																	4874626		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4130	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 8"	606250	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1675G>T	12.37:g.4874626G>T	ENSP00000252318:p.Asp559Tyr		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.D559Y	ENST00000252318.2	37	c.1675	CCDS8533.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.75|13.75	2.329884|2.329884	0.41297|0.41297	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.26067|.	1.76|.	4.04|4.04	3.14|3.14	0.36123|0.36123	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69287|0.69287	0.3094|0.3094	M|M	0.84082|0.84082	2.675|2.675	0.34975|0.34975	D|D	0.753494|0.753494	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.76929|0.76929	-0.2777|-0.2777	10|5	0.48119|.	T|.	0.1|.	.|.	9.7025|9.7025	0.40196|0.40196	0.0:0.2107:0.7893:0.0|0.0:0.2107:0.7893:0.0	.|.	559|.	Q9NY28|.	GALT8_HUMAN|.	Y|H	559|75;54	ENSP00000252318:D559Y|.	ENSP00000252318:D559Y|.	D|Q	+|+	1|3	0|2	GALNT8|GALNT8	4744887|4744887	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.307000|0.307000	0.27823|0.27823	4.806000|4.806000	0.62569|0.62569	0.896000|0.896000	0.36366|0.36366	0.655000|0.655000	0.94253|0.94253	GAC|CAG	GALNT8	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000130035		0.443	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0	82	0	G	NM_017417		4874626	1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	6.76	69	5	SNP	1.000	T	T	4874626	G	T	4874626	3	4	95	1	0	0	0	0	1	0	0	0	6244	942	33	3	1713	3	GALNT8	12	4874626	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2881143	4874626	128977269	204	27383											
NCAPD2	9918	genome.wustl.edu	37	chr12	6620372	6620372	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctacttcagttggacAtccgtcacctgtggaaccac	10	9	8	14	1	2	0	2	0	0	0	3	2	3	2	3	2	3	2	3	2	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:6620372A>T	ENST00000315579.5	+	6	1340	c.541A>T	c.(541-543)Atc>Ttc	p.I181F	SCARNA10_ENST00000459255.1_RNA|NCAPD2_ENST00000545962.1_Missense_Mutation_p.I136F	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	181	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCAGTTGGACATCCGTCACCT	0.473																																																	0													108	107	107					12																	6620372		2203	4300	6503	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"chromosome condensation related SMC associated protein 1"	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.541A>T	12.37:g.6620372A>T	ENSP00000325017:p.Ile181Phe		D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.I181F	ENST00000315579.5	37	c.541	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	A	20.2	3.945746	0.73672	.	.	ENSG00000010292	ENST00000315579;ENST00000545962	T;T	0.46063	0.88;0.88	5.68	4.55	0.56014	Condensin complex, subunit 1, N-terminal (1);	0.094660	0.64402	D	0.000001	T	0.55940	0.1952	M	0.71581	2.175	0.58432	D	0.999998	D;D	0.67145	0.995;0.996	P;D	0.64144	0.872;0.922	T	0.57365	-0.7824	9	.	.	.	-18.1428	7.4588	0.27283	0.733:0.1884:0.0786:0.0	.	136;181	F5GZJ1;Q15021	.;CND1_HUMAN	F	181;136	ENSP00000325017:I181F;ENSP00000444417:I136F	.	I	+	1	0	NCAPD2	6490633	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	4.269000	0.58890	2.169000	0.68431	0.528000	0.53228	ATC	NCAPD2	-	pirsf_Condensin_cplx_su1	ENSG00000010292		0.473	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1		0	70	0	A	NM_014865		6620372	1			no_errors	ENST00000315579	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	T	T	6620372	A	T	6620372	3	4	95	1	0	0	0	0	1	0	0	0	10244	217	8	5	559	5	NCAPD2	12	6620372	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	1745746	6620372	127231523	205	27384											
A2M	2	genome.wustl.edu	37	chr12	9229971	9229971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaatctccagaagggCgatggtgatataggcggaga	13	6	17	5	2	1	4	0	1	1	3	2	8	1	5	1	5	0	0	1	5	4	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:9229971C>T	ENST00000318602.7	-	27	3629	c.3322G>A	c.(3322-3324)Gcc>Acc	p.A1108T	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1108					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TCCAGAAGGGCGATGGTGATA	0.468																																																	0													96	99	98					12																	9229971		2184	4299	6483	SO:0001583	missense	0			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3322G>A	12.37:g.9229971C>T	ENSP00000323929:p.Ala1108Thr		Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.A1108T	ENST00000318602.7	37	c.3322	CCDS44827.1	12	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289819	0.59976	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.57273	0.41	5.86	4.97	0.65823	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.057170	0.64402	D	0.000003	T	0.77651	0.4162	M	0.90309	3.105	0.35560	D	0.804613	D	0.76494	0.999	D	0.77004	0.989	D	0.87389	0.2362	10	0.87932	D	0	.	16.0445	0.80711	0.1356:0.8644:0.0:0.0	.	1108	P01023	A2MG_HUMAN	T	1108;1123	ENSP00000323929:A1108T	ENSP00000323929:A1108T	A	-	1	0	A2M	9121238	0.994000	0.37717	0.996000	0.52242	0.189000	0.23516	3.186000	0.50942	1.476000	0.48215	0.585000	0.79938	GCC	A2M	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000175899		0.468	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	-	0	40	0	C	NM_000014		9229971	-1	tier1	-	no_errors	ENST00000318602	ensembl	human	known	74_37	missense	39.53	26	17	SNP	0.996	T	T	9229971	C	T	9229971	3	4	95	1	0	0	0	0	1	0	0	0	4	768	27	1	1142	1	A2M	12	9229971	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2609599	9229971	124621924	206	27385											
PIK3C2G	5288	genome.wustl.edu	37	chr12	18534755	18534755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattacagagtgagcctcccGtagaaatgataactccagga	14	8	9	10	1	0	4	0	2	0	2	2	5	2	5	3	1	3	1	3	1	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:18534755G>A	ENST00000266497.5	+	12	1851	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.V646I|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.V605I			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	605	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.V605I(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGAGCCTCCCGTAGAAATGAT	0.473																																																	2	Substitution - Missense(2)	large_intestine(2)											140	133	135					12																	18534755		1924	4128	6052	SO:0001583	missense	0			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"phosphoinositide-3-kinase, class 2, gamma polypeptide"			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1813G>A	12.37:g.18534755G>A	ENSP00000266497:p.Val605Ile		A1L3U0	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.V646I	ENST00000266497.5	37	c.1936	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.172293	0.00027	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.75821	-0.97;-0.97;-0.97	4.35	-0.832	0.10785	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	1.186130	0.05910	N	0.631568	T	0.36717	0.0977	N	0.00347	-1.61	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.20974	-1.0259	10	0.17832	T	0.49	-1.1609	6.4136	0.21704	0.6782:0.1346:0.1872:0.0	.	645;646;605	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	I	605;605;646	ENSP00000404845:V605I;ENSP00000266497:V605I;ENSP00000445381:V646I	ENSP00000266497:V605I	V	+	1	0	PIK3C2G	18426022	0.069000	0.21087	0.291000	0.24904	0.017000	0.09413	0.131000	0.15870	-0.407000	0.07576	-4.209000	0.00009	GTA	PIK3C2G	-	pfam_PI3K_C2_dom,superfamily_C2_dom	ENSG00000139144		0.473	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	HGNC	protein_coding	OTTHUMT00000401316.1		0	62	0	G	NM_004570		18534755	1			no_errors	ENST00000538779	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.384	A	A	18534755	G	A	18534755	3	1	95	1	0	0	0	0	1	0	0	0	11950	1145	40	1	1859	1	PIK3C2G	12	18534755	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	9304784	18534755	115317140	207	27386											
PDE3A	5139	genome.wustl.edu	37	chr12	20522243	20522243	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccggcgacgctgcaCgagtcagggacaagcccgtc	8	4	14	15	5	1	0	1	0	0	0	2	3	1	1	2	2	3	2	2	2	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:20522243C>T	ENST00000359062.3	+	1	65	c.25C>T	c.(25-27)Cga>Tga	p.R9*	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	9					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGACGCTGCACGAGTCAGGGA	0.731																																																	0													4	6	6					12																	20522243		1830	3509	5339	SO:0001587	stop_gained	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.25C>T	12.37:g.20522243C>T	ENSP00000351957:p.Arg9*		O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.R9*	ENST00000359062.3	37	c.25	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225327	0.58668	.	.	ENSG00000172572	ENST00000359062	.	.	.	3.94	0.82	0.18793	.	3.962740	0.00424	N	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0025	0.30306	0.1596:0.5268:0.3136:0.0	.	.	.	.	X	9	.	ENSP00000351957:R9X	R	+	1	2	PDE3A	20413510	0.000000	0.05858	0.243000	0.24186	0.290000	0.27261	-0.142000	0.10311	0.827000	0.34685	0.484000	0.47621	CGA	PDE3A	-	NULL	ENSG00000172572		0.731	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2		0	15	0	C			20522243	1			no_errors	ENST00000359062	ensembl	human	known	74_37	nonsense	83.33	1	5	SNP	0.005	T	T	20522243	C	T	20522243	4	4	95	1	0	0	0	0	0	1	0	0	11676	528	19	1	27	1	PDE3A	12	20522243	Nonsense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1987488	20522243	113329652	208	27387											
PDE3A	5139	genome.wustl.edu	37	chr12	20522419	20522419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctccgcgctgtgcgcGggctccctgtcctttctgct	0	14	10	17	4	1	0	0	0	1	0	5	0	5	0	4	1	2	3	4	1	0	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:20522419G>A	ENST00000359062.3	+	1	241	c.201G>A	c.(199-201)gcG>gcA	p.A67A	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	67					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGCTGTGCGCGGGCTCCCTGT	0.716																																																	0													6	7	6					12																	20522419		2055	4103	6158	SO:0001819	synonymous_variant	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"Phosphodiesterases"	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.201G>A	12.37:g.20522419G>A			O60865|Q13348|Q17RD1	Silent	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.A67	ENST00000359062.3	37	c.201	CCDS31754.1	12																																																																																			PDE3A	-	NULL	ENSG00000172572		0.716	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2		0	20	0	G			20522419	1			no_errors	ENST00000359062	ensembl	human	known	74_37	silent	37.50	5	3	SNP	0.979	A	A	20522419	G	A	20522419	2	1	95	1	0	0	0	0	0	0	0	1	11676	1103	39	1		1	PDE3A	12	20522419	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	176	20522419	113329476	209	27388											
KLHDC5	57542	genome.wustl.edu	37	chr12	27950675	27950675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaacattttgcagtactGcccctcttccgacatgtgga	9	12	8	12	1	1	1	0	1	1	0	2	3	2	2	3	1	4	2	3	1	2	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:27950675G>T	ENST00000381271.2	+	3	1405	c.1094G>T	c.(1093-1095)tGc>tTc	p.C365F	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	365					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TTGCAGTACTGCCCCTCTTCC	0.493																																																	0													261	249	253					12																	27950675		2203	4300	6503	SO:0001583	missense	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"Kelch-like"	29252	protein-coding gene	gene with protein product			"kelch domain containing 5"	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1094G>T	12.37:g.27950675G>T	ENSP00000370671:p.Cys365Phe		Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.C365F	ENST00000381271.2	37	c.1094	CCDS31763.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574815	0.86542	.	.	ENSG00000087448	ENST00000381271	T	0.66099	-0.19	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.74574	0.3734	L	0.51422	1.61	0.58432	D	0.999999	D	0.65815	0.995	D	0.68765	0.96	T	0.76250	-0.3028	10	0.59425	D	0.04	.	17.6797	0.88239	0.0:0.0:1.0:0.0	.	365	Q9P2K6	KLDC5_HUMAN	F	365	ENSP00000370671:C365F	ENSP00000370671:C365F	C	+	2	0	KLHDC5	27841942	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.193000	0.94954	2.394000	0.81467	0.561000	0.74099	TGC	KLHL42	-	smart_Kelch_1	ENSG00000087448		0.493	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL42	HGNC	protein_coding	OTTHUMT00000402904.1		0	53	0	G	NM_020782		27950675	1			no_errors	ENST00000381271	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T	T	27950675	G	T	27950675	3	4	95	1	0	0	0	0	1	0	0	0	8386	1319	46	3	1104	3	KLHDC5	12	27950675	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	7428256	27950675	105901220	210	27389											
TMTC1	83857	genome.wustl.edu	37	chr12	29786082	29786082	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttttgagaaaattacctTaaaggctgctaagcagtgca	14	12	8	7	0	0	1	0	1	0	1	0	2	0	1	1	1	5	4	1	1	7	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:29786082T>A	ENST00000539277.1	-	6	1184	c.1126A>T	c.(1126-1128)Aag>Tag	p.K376*	TMTC1_ENST00000381224.2_Nonsense_Mutation_p.K330*|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.K438*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.K438*|TMTC1_ENST00000256062.5_Nonsense_Mutation_p.K268*|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	376						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAAATTACCTTAAAGGCTGCT	0.418																																																	0													74	77	76					12																	29786082		2203	4300	6503	SO:0001587	stop_gained	0				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"Tetratricopeptide (TTC) repeat domain containing"	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.1126A>T	12.37:g.29786082T>A	ENSP00000442046:p.Lys376*		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonsense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K268*	ENST00000539277.1	37	c.802	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	.	43	10.280437	0.99375	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	.	.	.	5.53	5.53	0.82687	.	0.172691	0.52532	D	0.000075	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.2332	14.4885	0.67634	0.0:0.0:0.0:1.0	.	.	.	.	X	139;268;438;438;376;330	.	.	K	-	1	0	TMTC1	29677349	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.302000	0.51849	2.088000	0.63022	0.533000	0.62120	AAG	TMTC1	-	NULL	ENSG00000133687		0.418	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1		0	28	0	T	NM_031920		29786082	-1			no_errors	ENST00000256062	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	A	A	29786082	T	A	29786082	4	1	95	1	0	0	0	0	0	1	0	0	16307	1763	61	5	1574	5	TMTC1	12	29786082	Nonsense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	1835407	29786082	104065813	211	27390											
C12orf35	55196	genome.wustl.edu	37	chr12	32134931	32134931	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtaaataccaacagcaaaCagccttttaacagtcccatt	17	9	4	11	0	0	0	0	0	0	0	1	0	1	0	3	0	6	2	3	0	7	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:32134931C>T	ENST00000312561.4	+	4	1456	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	348								p.Q348*(1)									CAACAGCAAACAGCCTTTTAA	0.368																																																	1	Substitution - Nonsense(1)	large_intestine(1)											86	85	85					12																	32134931		2203	4300	6503	SO:0001587	stop_gained	0			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 35"	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1042C>T	12.37:g.32134931C>T	ENSP00000310338:p.Gln348*		B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.Q348*	ENST00000312561.4	37	c.1042	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	C	38	6.819189	0.97861	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	.	.	.	5.36	5.36	0.76844	.	0.121632	0.36234	N	0.002701	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8182	0.78621	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	.	Q	+	1	0	C12orf35	32026198	0.204000	0.23447	0.047000	0.18901	0.023000	0.10783	1.844000	0.39269	2.506000	0.84524	0.555000	0.69702	CAG	KIAA1551	-	NULL	ENSG00000174718		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2		0	27	0	C	NM_018169		32134931	1			no_errors	ENST00000312561	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	0.027	T	T	32134931	C	T	32134931	4	4	95	1	0	0	0	0	0	1	0	0	1687	479	17	3	1044	3	C12orf35	12	32134931	Nonsense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2348849	32134931	101716964	212	27391											
TMEM117	84216	genome.wustl.edu	37	chr12	44782039	44782039	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaataaaacatatgttgagGgagacatgttcttacacagc	15	11	8	7	0	1	2	0	1	1	1	1	3	1	2	0	1	3	2	0	1	5	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:44782039G>T	ENST00000266534.3	+	8	1256	c.1129G>T	c.(1129-1131)Gga>Tga	p.G377*	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Nonsense_Mutation_p.G273*|TMEM117_ENST00000546978.1_3'UTR	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	377						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATATGTTGAGGGAGACATGTT	0.428																																																	0													164	155	158					12																	44782039		2203	4300	6503	SO:0001587	stop_gained	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.1129G>T	12.37:g.44782039G>T	ENSP00000266534:p.Gly377*			Nonsense_Mutation	SNP	NULL	p.G377*	ENST00000266534.3	37	c.1129	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917815	0.92249	.	.	ENSG00000139173	ENST00000266534;ENST00000536799;ENST00000417623	.	.	.	5.73	5.73	0.89815	.	0.146210	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-14.6374	19.9155	0.97058	0.0:0.0:1.0:0.0	.	.	.	.	X	377;273;125	.	ENSP00000266534:G377X	G	+	1	0	TMEM117	43068306	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.049000	0.71053	2.699000	0.92147	0.650000	0.86243	GGA	TMEM117	-	NULL	ENSG00000139173		0.428	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1		0	90	0	G	NM_032256		44782039	1			no_errors	ENST00000266534	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	1.000	T	T	44782039	G	T	44782039	4	4	95	1	0	0	0	0	0	1	0	0	16078	1233	43	3	1155	3	TMEM117	12	44782039	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	12647108	44782039	89069856	213	27392											
MLL2	8085	genome.wustl.edu	37	chr12	49431220	49431220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagctgctgttgggacccagCcaaactgggagaagagccct	11	6	13	11	0	0	2	0	0	0	2	0	4	0	3	3	2	5	3	3	2	3	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:49431220C>T	ENST00000301067.7	-	34	9918	c.9919G>A	c.(9919-9921)Gct>Act	p.A3307T	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3307	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S3305fs*20(1)|p.S3035fs*20(1)									TGGGACCCAGCCAAACTGGGA	0.627																																																	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)											18	21	20					12																	49431220		2096	4232	6328	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9919G>A	12.37:g.49431220C>T	ENSP00000301067:p.Ala3307Thr		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A3307T	ENST00000301067.7	37	c.9919	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	9.176	1.022333	0.19433	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	5.24	3.34	0.38264	.	1.101140	0.07191	N	0.855684	T	0.61813	0.2377	N	0.08118	0	0.21553	N	0.999645	B	0.20671	0.047	B	0.15870	0.014	T	0.53753	-0.8394	10	0.87932	D	0	.	9.5708	0.39427	0.3049:0.564:0.1311:0.0	.	3307	O14686	MLL2_HUMAN	T	3307	ENSP00000301067:A3307T	ENSP00000301067:A3307T	A	-	1	0	MLL2	47717487	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	0.719000	0.25881	0.651000	0.30788	0.655000	0.94253	GCT	KMT2D	-	NULL	ENSG00000167548		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	29	0	C			49431220	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.951	T	T	49431220	C	T	49431220	3	4	95	1	0	0	0	0	1	0	0	0	9659	739	26	3	6778	3	MLL2	12	49431220	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	4649181	49431220	84420675	214	27393											
TMBIM6	7009	genome.wustl.edu	37	chr12	50149463	50149463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatattgatgatttggCtgatggcaacacctcatagc	10	12	9	10	0	1	4	1	4	0	0	1	4	1	4	2	2	2	2	2	2	3	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:50149463C>A	ENST00000267115.5	+	4	296	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TMBIM6_ENST00000549385.1_Missense_Mutation_p.L71M|TMBIM6_ENST00000395006.4_Missense_Mutation_p.L71M|TMBIM6_ENST00000552699.1_Missense_Mutation_p.L129M|TMBIM6_ENST00000547798.1_Missense_Mutation_p.L34M|TMBIM6_ENST00000423828.1_Missense_Mutation_p.L129M	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	71					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GATGATTTGGCTGATGGCAAC	0.403																																																	0													187	184	185					12																	50149463		2203	4300	6503	SO:0001583	missense	0			X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"BAX inhibitor 1"	600748	"testis enhanced gene transcript"	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.211C>A	12.37:g.50149463C>A	ENSP00000267115:p.Leu71Met		B2R5M4|F8W034|O14938|Q643A7|Q96J50	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.L129M	ENST00000267115.5	37	c.385	CCDS31797.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007178	0.75046	.	.	ENSG00000139644	ENST00000546796;ENST00000549966;ENST00000547832;ENST00000547187;ENST00000546914;ENST00000552699;ENST00000267115;ENST00000541612;ENST00000549445;ENST00000549385;ENST00000548201;ENST00000423828;ENST00000542631;ENST00000550445;ENST00000549130;ENST00000552370;ENST00000395006;ENST00000547798	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.65	3.84	0.44239	.	0.000000	0.64402	D	0.000001	T	0.64853	0.2636	M	0.70903	2.155	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.995;0.983;0.996	T	0.65533	-0.6145	10	0.54805	T	0.06	.	10.9449	0.47296	0.0:0.8487:0.0:0.1513	.	71;129;71	B7Z984;F8W034;P55061	.;.;BI1_HUMAN	M	71;71;71;71;71;129;71;71;71;71;71;129;71;71;71;71;71;34	ENSP00000450159:L71M;ENSP00000446668:L71M;ENSP00000448269:L71M;ENSP00000447400:L71M;ENSP00000448612:L71M;ENSP00000446734:L129M;ENSP00000267115:L71M;ENSP00000449904:L71M;ENSP00000448036:L71M;ENSP00000450265:L71M;ENSP00000389277:L129M;ENSP00000449907:L71M;ENSP00000450158:L71M;ENSP00000378454:L71M;ENSP00000447030:L34M	ENSP00000267115:L71M	L	+	1	2	TMBIM6	48435730	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.122000	0.57910	0.941000	0.37499	0.655000	0.94253	CTG	TMBIM6	-	pfam_Bax_inhibitor_1-related	ENSG00000139644		0.403	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMBIM6	HGNC	protein_coding	OTTHUMT00000405289.1		0	72	0	C	NM_003217		50149463	1			no_errors	ENST00000423828	ensembl	human	known	74_37	missense	7.32	76	6	SNP	1.000	A	A	50149463	C	A	50149463	3	1	95	1	0	0	0	0	1	0	0	0	16030	796	28	3	399	3	TMBIM6	12	50149463	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	718243	50149463	83702432	215	27394											
KRT1	3848	genome.wustl.edu	37	chr12	53074082	53074082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccagcagagccagagctGaagccccctccacttcggta	10	6	9	16	1	0	3	0	1	0	2	3	3	2	3	5	1	4	3	5	1	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:53074082G>T	ENST00000252244.3	-	1	109	c.51C>A	c.(49-51)ttC>ttA	p.F17L		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	17	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						AGCCAGAGCTGAAGCCCCCTC	0.542																																																	0													73	80	78					12																	53074082		2203	4300	6503	SO:0001583	missense	0			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"-", "Intermediate filaments type II, keratins (basic)"	6412	protein-coding gene	gene with protein product		139350	"epidermolytic hyperkeratosis 1"	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.51C>A	12.37:g.53074082G>T	ENSP00000252244:p.Phe17Leu		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.F17L	ENST00000252244.3	37	c.51	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120392	0.37436	.	.	ENSG00000167768	ENST00000252244	D	0.87179	-2.22	4.36	0.524	0.17066	.	.	.	.	.	D	0.87533	0.6201	M	0.87547	2.89	0.29892	N	0.825169	B	0.18461	0.028	B	0.09377	0.004	T	0.81097	-0.1087	9	0.59425	D	0.04	.	11.6603	0.51343	0.129:0.0:0.871:0.0	.	17	P04264	K2C1_HUMAN	L	17	ENSP00000252244:F17L	ENSP00000252244:F17L	F	-	3	2	KRT1	51360349	0.992000	0.36948	0.510000	0.27712	0.526000	0.34562	0.715000	0.25822	-0.126000	0.11682	0.491000	0.48974	TTC	KRT1	-	NULL	ENSG00000167768		0.542	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1		0	39	0	G	NM_006121		53074082	-1			no_errors	ENST00000252244	ensembl	human	known	74_37	missense	5.13	74	4	SNP	0.975	T	T	53074082	G	T	53074082	3	4	95	1	0	0	0	0	1	0	0	0	8474	1281	45	3	1919	3	KRT1	12	53074082	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2924619	53074082	80777813	216	27395											
HNRNPA1	3178	genome.wustl.edu	37	chr12	54675946	54675946	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaaagaagacactgaaGaacatcacctaagagattat	19	8	7	7	0	1	5	1	1	0	4	1	6	1	5	1	0	1	1	1	0	7	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:54675946G>T	ENST00000340913.6	+	4	405	c.352G>T	c.(352-354)Gaa>Taa	p.E118*	HNRNPA1_ENST00000330752.8_Nonsense_Mutation_p.E118*|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Nonsense_Mutation_p.E118*|CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000546500.1_Nonsense_Mutation_p.E118*	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	118	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGACACTGAAGAACATCACCT	0.383																																					Colon(83;502 1289 8436 16406 24870)												0													43	40	41					12																	54675946		1868	4091	5959	SO:0001587	stop_gained	0			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"RNA binding motif (RRM) containing"	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.352G>T	12.37:g.54675946G>T	ENSP00000341826:p.Glu118*		A8K4Z8|Q3MIB7|Q6PJZ7	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E118*	ENST00000340913.6	37	c.352	CCDS44909.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946126	0.92593	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550994	.	.	.	4.01	4.01	0.46588	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.4517	0.67389	0.0:0.0:1.0:0.0	.	.	.	.	X	118;118;118;118;118;118;69;118;118;137;73	.	ENSP00000333504:E118X	E	+	1	0	HNRNPA1	52962213	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.857000	0.99534	2.194000	0.70268	0.297000	0.19635	GAA	HNRNPA1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000135486		0.383	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	HGNC	protein_coding	OTTHUMT00000405480.1		0	24	0	G	NM_031157		54675946	1			no_errors	ENST00000340913	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	54675946	G	T	54675946	4	4	95	1	0	0	0	0	0	1	0	0	7284	943	33	3	366	3	HNRNPA1	12	54675946	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1601864	54675946	79175949	217	27396											
OR6C68	403284	genome.wustl.edu	37	chr12	55886609	55886609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatttgttgttggatggcaGcacttatgattatcctccca	8	17	8	8	0	0	1	0	1	0	0	2	2	2	2	2	2	1	4	2	2	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:55886609G>A	ENST00000548615.1	+	1	448	c.448G>A	c.(448-450)Gca>Aca	p.A150T	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.A155T	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TTGGATGGCAGCACTTATGAT	0.398																																																	0													147	133	138					12																	55886609		2203	4300	6503	SO:0001583	missense	0				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.448G>A	12.37:g.55886609G>A	ENSP00000448811:p.Ala150Thr			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A155T	ENST00000548615.1	37	c.463	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278364	0.40294	.	.	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.41758	0.99;0.99	4.77	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.436563	0.18940	N	0.126950	T	0.27241	0.0668	N	0.25286	0.73	0.09310	N	1	B	0.22080	0.064	B	0.25884	0.064	T	0.23619	-1.0183	10	0.87932	D	0	.	6.9478	0.24528	0.1532:0.0:0.7053:0.1415	.	150	A6NDL8	O6C68_HUMAN	T	155;150	ENSP00000368983:A155T;ENSP00000448811:A150T	ENSP00000368983:A155T	A	+	1	0	OR6C68	54172876	0.234000	0.23783	0.000000	0.03702	0.001000	0.01503	2.194000	0.42668	0.299000	0.22661	0.603000	0.83216	GCA	OR6C68	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205327		0.398	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	-	0	50	0	G			55886609	1	tier1	-	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	21.43	44	12	SNP	0.006	A	A	55886609	G	A	55886609	3	1	95	1	0	0	0	0	1	0	0	0	11235	971	34	3	465	3	OR6C68	12	55886609	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1210663	55886609	77965286	218	27397											
B4GALNT1	2583	genome.wustl.edu	37	chr12	58025827	58025827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagccggaggccgggcGcgtcccgggtgctcgcgtac	4	5	19	13	7	0	0	0	0	0	0	2	2	1	1	3	5	3	3	3	5	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:58025827G>A	ENST00000341156.4	-	2	673	c.89C>T	c.(88-90)gCg>gTg	p.A30V	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.A30V|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.A30V|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.A30V|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.A30V	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	30					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGGCCGGGCGCGTCCCGGGT	0.736																																																	0													4	6	6					12																	58025827		2067	4013	6080	SO:0001583	missense	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.89C>T	12.37:g.58025827G>A	ENSP00000341562:p.Ala30Val		B4DE26|Q8N636	Missense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A30V	ENST00000341156.4	37	c.89	CCDS8950.1	12	.	.	.	.	.	.	.	.	.	.	G	6.019	0.371815	0.11409	.	.	ENSG00000135454	ENST00000341156;ENST00000418555;ENST00000550764;ENST00000552350;ENST00000548888;ENST00000551220	T;T;T;T;T;T	0.46819	2.21;2.11;1.41;1.41;1.48;0.86	3.84	0.492	0.16872	.	1.042900	0.07580	N	0.920215	T	0.36799	0.0980	L	0.44542	1.39	0.09310	N	1	D;P;B;P;B	0.61080	0.989;0.593;0.203;0.944;0.203	P;B;B;B;B	0.46659	0.523;0.093;0.029;0.33;0.043	T	0.22068	-1.0227	10	0.15499	T	0.54	.	1.7789	0.03028	0.1222:0.1899:0.4634:0.2245	.	107;30;30;30;30	B7Z7U3;B4DSP5;B4DE26;Q8N636;Q00973	.;.;.;.;B4GN1_HUMAN	V	30	ENSP00000341562:A30V;ENSP00000401601:A30V;ENSP00000450303:A30V;ENSP00000448500:A30V;ENSP00000447945:A30V;ENSP00000446566:A30V	ENSP00000341562:A30V	A	-	2	0	B4GALNT1	56312094	0.000000	0.05858	0.528000	0.27938	0.067000	0.16453	0.625000	0.24477	0.283000	0.22279	-1.434000	0.01081	GCG	B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.736	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0	51	0	G	NM_001478		58025827	-1	tier1	-	no_errors	ENST00000341156	ensembl	human	known	74_37	missense	19.67	48	12	SNP	0.003	A	A	58025827	G	A	58025827	3	1	95	1	0	0	0	0	1	0	0	0	1267	1087	38	1	1552	1	B4GALNT1	12	58025827	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2139218	58025827	75826068	219	27398											
PTPRR	5801	genome.wustl.edu	37	chr12	71286634	71286635	+	Frame_Shift_Ins	INS	-	-	T																															atggtagctatgtctgtagaINSttttttgtggggctatatcc																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:71286634_71286635insT	ENST00000283228.2	-	2	633_634	c.181_182insA	c.(181-183)atcfs	p.I61fs		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	61					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATGTCTGTAGATTTTTTGTGGG	0.426																																																	0																																										SO:0001589	frameshift_variant	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.182dupA	12.37:g.71286640_71286640dupT	ENSP00000283228:p.Ile61fs		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Frame_Shift_Ins	INS	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I61fs	ENST00000283228.2	37	c.182_181	CCDS8998.1	12																																																																																			PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.426	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1		0	70	0	-	NM_002849		71286635	-1	tier1		no_errors	ENST00000283228	ensembl	human	known	74_37	frame_shift_ins	21.18	67	18	INS	0.989:0.992	T	T	71286635	-	T	71286634	7	5	95	1	0	1	1	0	0	0	0	0	12855	333	12	0	1843	0	PTPRR	12	71286634	Frame_Shift_Ins	INS	-	TCGA-L5-A8NW-01A-11D-A37C-09	13260807	71286634	62565261	220	27399											
TCTN2	79867	genome.wustl.edu	37	chr12	124171535	124171535	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctttctgtgtgtgcagtcCccccttgccaacacaccctt	5	12	6	18	0	1	0	0	0	1	0	2	0	2	0	6	0	3	1	6	0	1	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:124171535C>T	ENST00000303372.5	+	6	845	c.717C>T	c.(715-717)tcC>tcT	p.S239S	TCTN2_ENST00000426174.2_Silent_p.S238S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	239					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GTGTGCAGTCCCCCCTTGCCA	0.562																																																	0													318	285	297					12																	124171535		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"Tectonic proteins"	25774	protein-coding gene	gene with protein product	"Meckel syndrome, type 8"	613846	"chromosome 12 open reading frame 38"	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.717C>T	12.37:g.124171535C>T			A8K7Y8|B3KPW5|Q9H966	Silent	SNP	pfam_DUF1619	p.S239	ENST00000303372.5	37	c.717	CCDS9253.1	12																																																																																			TCTN2	-	pfam_DUF1619	ENSG00000168778		0.562	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	-	0	65	0	C	NM_024809		124171535	1	tier1	-	no_errors	ENST00000303372	ensembl	human	known	74_37	silent	50.00	30	30	SNP	0.000	T	T	124171535	C	T	124171535	2	4	95	1	0	0	0	0	0	0	0	1	15770	610	22	3		3	TCTN2	12	124171535	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	52884901	124171535	9680360	221	27400											
PIWIL1	9271	genome.wustl.edu	37	chr12	130831046	130831046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactccgttcagctcttCtttttcaacacgaagatcta	11	13	6	11	2	5	2	2	0	3	2	6	4	6	2	1	0	2	2	1	0	4	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:130831046C>A	ENST00000245255.3	+	5	720	c.448C>A	c.(448-450)Ctt>Att	p.L150I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	150					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.L150I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTCAGCTCTTCTTTTTCAACA	0.413																																																	1	Substitution - Missense(1)	lung(1)											95	90	91					12																	130831046		2203	4300	6503	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"Argonaute/PIWI family"	9007	protein-coding gene	gene with protein product		605571	"piwi (Drosophila)-like 1", "piwi-like 1 (Drosophila)"			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.448C>A	12.37:g.130831046C>A	ENSP00000245255:p.Leu150Ile		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.L150I	ENST00000245255.3	37	c.448	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887673	0.91814	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539995;ENST00000542723;ENST00000540672	T;T;T;T;T	0.62639	2.81;2.81;0.01;2.81;2.81	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.057722	0.64402	D	0.000001	T	0.76040	0.3932	L	0.49455	1.56	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.919	T	0.75388	-0.3335	10	0.52906	T	0.07	-16.8752	18.8981	0.92432	0.0:1.0:0.0:0.0	.	150;150	Q96J94;Q96J94-2	PIWL1_HUMAN;.	I	150;150;150;150;11	ENSP00000245255:L150I;ENSP00000442086:L150I;ENSP00000439096:L150I;ENSP00000438582:L150I;ENSP00000441695:L11I	ENSP00000245255:L150I	L	+	1	0	PIWIL1	129396999	1.000000	0.71417	0.924000	0.36721	0.979000	0.70002	6.064000	0.71169	2.691000	0.91804	0.650000	0.86243	CTT	PIWIL1	-	superfamily_PAZ_dom	ENSG00000125207		0.413	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1		0	34	0	C			130831046	1			no_errors	ENST00000245255	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	130831046	C	A	130831046	3	1	95	1	0	0	0	0	1	0	0	0	11996	913	32	3	462	3	PIWIL1	12	130831046	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	6659511	130831046	3020849	222	27401											
GPR133	283383	genome.wustl.edu	37	chr12	131569156	131569156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcacctactccgtctgccGctgcactcacctcaccaact	7	9	4	21	2	4	0	3	0	1	0	5	0	5	0	6	0	4	2	6	0	2	1	rs145630930		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr12:131569156G>C	ENST00000261654.5	+	15	2178	c.1619G>C	c.(1618-1620)cGc>cCc	p.R540P	GPR133_ENST00000543617.1_Missense_Mutation_p.R59P|GPR133_ENST00000535015.1_Missense_Mutation_p.R572P|GPR133_ENST00000376682.4_Missense_Mutation_p.R226P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	540	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R540H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCGTCTGCCGCTGCACTCAC	0.617																																																	1	Substitution - Missense(1)	lung(1)											144	97	113					12																	131569156		2203	4300	6503	SO:0001583	missense	0			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"-", "GPCR / Class B : Orphans"	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1619G>C	12.37:g.131569156G>C	ENSP00000261654:p.Arg540Pro		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R540P	ENST00000261654.5	37	c.1619	CCDS9272.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.96|14.96	2.691848|2.691848	0.48097|0.48097	.|.	.|.	ENSG00000111452|ENSG00000111452	ENST00000335486|ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	.|T;T;T;T	.|0.69685	.|-0.42;-0.42;-0.42;-0.42	4.99|4.99	-6.06|-6.06	0.02165|0.02165	.|GPS domain (3);	.|1.020760	.|0.07793	.|N	.|0.955259	T|T	0.71517|0.71517	0.3349|0.3349	M|M	0.85099|0.85099	2.735|2.735	0.20821|0.20821	N|N	0.999848|0.999848	.|B;P;P	.|0.39520	.|0.354;0.676;0.55	.|B;P;B	.|0.44561	.|0.395;0.453;0.403	T|T	0.68911|0.68911	-0.5284|-0.5284	5|10	.|0.38643	.|T	.|0.18	.|.	14.0182|14.0182	0.64536|0.64536	0.7278:0.0:0.2722:0.0|0.7278:0.0:0.2722:0.0	.|.	.|572;59;540	.|B7ZLF7;Q6QNK2-3;Q6QNK2	.|.;.;GP133_HUMAN	P|P	62|540;572;226;59	.|ENSP00000261654:R540P;ENSP00000444425:R572P;ENSP00000365872:R226P;ENSP00000438021:R59P	.|ENSP00000261654:R540P	A|R	+|+	1|2	0|0	GPR133|GPR133	130135109|130135109	0.987000|0.987000	0.35691|0.35691	0.921000|0.921000	0.36526|0.36526	0.674000|0.674000	0.39518|0.39518	0.159000|0.159000	0.16442|0.16442	-1.058000|-1.058000	0.03197|0.03197	-0.196000|-0.196000	0.12772|0.12772	GCT|CGC	GPR133	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000111452		0.617	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1		0	53	0	G	NM_198827		131569156	1			no_errors	ENST00000261654	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.853	C	C	131569156	G	C	131569156	3	2	95	1	0	0	0	0	1	0	0	0	6669	1087	38	5	1677	5	GPR133	12	131569156	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	738110	131569156	2282739	223	27402											
SACS	26278	genome.wustl.edu	37	chr13	23915370	23915370	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatttctgcaatggcatcTtctccattatctgcaaaaca	13	13	4	11	0	4	0	0	0	4	0	5	0	4	0	1	1	3	3	1	1	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:23915370T>G	ENST00000382292.3	-	9	2918	c.2645A>C	c.(2644-2646)aAg>aCg	p.K882T	SACS_ENST00000382298.3_Missense_Mutation_p.K882T|SACS_ENST00000402364.1_Missense_Mutation_p.K132T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	882					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAATGGCATCTTCTCCATTAT	0.368																																																	0													118	119	119					13																	23915370		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2645A>C	13.37:g.23915370T>G	ENSP00000371729:p.Lys882Thr		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.K882T	ENST00000382292.3	37	c.2645	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	15.19	2.761103	0.49468	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87966	-2.18;-2.32;-2.18	6.05	3.71	0.42584	.	0.099920	0.64402	D	0.000002	T	0.76828	0.4042	L	0.27053	0.805	0.31547	N	0.659256	B	0.12630	0.006	B	0.12156	0.007	T	0.71820	-0.4477	10	0.28530	T	0.3	.	9.0314	0.36260	0.0:0.1806:0.0:0.8194	.	882	Q9NZJ4	SACS_HUMAN	T	882;132;882	ENSP00000371729:K882T;ENSP00000385844:K132T;ENSP00000371735:K882T	ENSP00000371729:K882T	K	-	2	0	SACS	22813370	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.568000	0.45965	2.320000	0.78422	0.528000	0.53228	AAG	SACS	-	NULL	ENSG00000151835		0.368	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	80	0	T	NM_014363		23915370	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	65.15	23	43	SNP	1.000	G	G	23915370	T	G	23915370	3	3	95	1	0	0	0	0	1	0	0	0	13849	1609	56	4	11098	4	SACS	13	23915370	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09		23915370	91254508	224	27403											
ATP8A2	51761	genome.wustl.edu	37	chr13	26594034	26594034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcactttcagatgggtatGctttttctcaagaagaacac	11	14	7	9	0	3	3	3	0	1	3	4	3	3	3	0	1	2	2	0	1	4	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:26594034G>A	ENST00000381655.2	+	37	3620	c.3478G>A	c.(3478-3480)Gct>Act	p.A1160T	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A1095T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1120					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATGGGTATGCTTTTTCTCA	0.418																																																	0													109	102	105					13																	26594034		1917	4137	6054	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"ATPases / P-type"	13533	protein-coding gene	gene with protein product		605870	"ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2", "ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.3478G>A	13.37:g.26594034G>A	ENSP00000371070:p.Ala1160Thr		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.A1160T	ENST00000381655.2	37	c.3478	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541224	0.85917	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.69926	0.17;-0.44	5.03	5.03	0.67393	.	0.127889	0.52532	D	0.000074	D	0.83594	0.5288	M	0.87900	2.915	0.43065	D	0.994692	D;D	0.76494	0.999;0.999	P;D	0.65010	0.899;0.931	D	0.86913	0.2062	10	0.87932	D	0	.	18.5629	0.91107	0.0:0.0:1.0:0.0	.	1095;1120	B7Z880;Q9NTI2	.;AT8A2_HUMAN	T	1160;1095;940	ENSP00000371070:A1160T;ENSP00000255283:A1095T	ENSP00000255283:A1095T	A	+	1	0	ATP8A2	25492034	1.000000	0.71417	0.973000	0.42090	0.930000	0.56654	6.910000	0.75741	2.625000	0.88918	0.555000	0.69702	GCT	ATP8A2	-	NULL	ENSG00000132932		0.418	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	-	0	41	0	G	NM_016529		26594034	1	tier1	-	no_errors	ENST00000381655	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.998	A	A	26594034	G	A	26594034	3	1	95	1	0	0	0	0	1	0	0	0	1194	1319	46	3	3624	3	ATP8A2	13	26594034	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2678664	26594034	88575844	225	27404											
GPR12	2835	genome.wustl.edu	37	chr13	27333439	27333439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagttccagcccatgaCgggcagcagccccaggcaga	10	3	14	14	1	0	2	0	1	0	1	1	3	1	2	4	3	3	5	4	3	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:27333439C>T	ENST00000381436.2	-	1	988	c.526G>A	c.(526-528)Gtc>Atc	p.V176I	GPR12_ENST00000405846.3_Missense_Mutation_p.V176I			P47775	GPR12_HUMAN	G protein-coupled receptor 12	176					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CAGCCCATGACGGGCAGCAGC	0.597																																																	0													51	47	48					13																	27333439		2203	4300	6503	SO:0001583	missense	0			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"GPCR / Class A : Orphans"	4466	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 84"	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.526G>A	13.37:g.27333439C>T	ENSP00000370844:p.Val176Ile		Q5T8P3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn	p.V176I	ENST00000381436.2	37	c.526	CCDS9319.1	13	.	.	.	.	.	.	.	.	.	.	C	3.117	-0.181320	0.06380	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36520	1.25;1.25	5.36	0.721	0.18219	GPCR, rhodopsin-like superfamily (1);	0.236354	0.42964	N	0.000627	T	0.16342	0.0393	N	0.11892	0.195	0.21841	N	0.999511	B	0.19073	0.033	B	0.19946	0.027	T	0.32134	-0.9918	10	0.07813	T	0.8	.	9.6996	0.40178	0.0:0.4994:0.0:0.5006	.	176	P47775	GPR12_HUMAN	I	176	ENSP00000384932:V176I;ENSP00000370844:V176I	ENSP00000370844:V176I	V	-	1	0	GPR12	26231439	0.001000	0.12720	0.292000	0.24919	0.946000	0.59487	0.002000	0.13061	-0.184000	0.10567	-0.224000	0.12420	GTC	GPR12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000132975		0.597	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR12	HGNC	protein_coding	OTTHUMT00000044257.2	-	0	19	0	C			27333439	-1	tier1	-	no_errors	ENST00000381436	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.059	T	T	27333439	C	T	27333439	3	4	95	1	0	0	0	0	1	0	0	0	6661	536	19	1	482	1	GPR12	13	27333439	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	739405	27333439	87836439	226	27405											
FRY	10129	genome.wustl.edu	37	chr13	32709287	32709287	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagcctgtatgacaccacGctggaactttcttctcgaaa	12	10	8	11	2	2	1	0	1	2	0	3	4	2	2	2	1	2	2	2	1	4	3	rs201444881		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:32709287G>A	ENST00000380250.3	+	10	1540	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	348						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGACACCACGCTGGAACTTT	0.348																																																	0													59	54	55					13																	32709287		1828	4083	5911	SO:0001819	synonymous_variant	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"chromosome 13 open reading frame 14"	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1044G>A	13.37:g.32709287G>A			Q9Y3N6	Silent	SNP	superfamily_ARM-type_fold	p.T348	ENST00000380250.3	37	c.1044	CCDS41875.1	13																																																																																			FRY	-	NULL	ENSG00000073910		0.348	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	-	0	77	0	G	NM_023037		32709287	1	tier1	rs201444881	no_errors	ENST00000380250	ensembl	human	known	74_37	silent	6.15	61	4	SNP	0.086	A	A	32709287	G	A	32709287	2	1	95	1	0	0	0	0	0	0	0	1	6087	1074	38	1		1	FRY	13	32709287	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5375848	32709287	82460591	227	27406											
KL	9365	genome.wustl.edu	37	chr13	33635918	33635918	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cataaacgaagctctcaaagGtaaggagccctagctgcggc	13	6	11	11	2	1	0	1	0	1	0	2	2	1	1	1	3	5	3	1	3	6	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:33635918G>T	ENST00000380099.3	+	4	2709		c.e4+1		KL_ENST00000487852.1_Splice_Site	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho						acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCTCTCAAAGGTAAGGAGCCC	0.463																																																	0													70	74	73					13																	33635918		2203	4300	6503	SO:0001630	splice_region_variant	0			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2701+1G>T	13.37:g.33635918G>T			Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Splice_Site	SNP	-	e4+1	ENST00000380099.3	37	c.2701+1	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539575	0.65085	.	.	ENSG00000133116	ENST00000380099	.	.	.	5.42	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.771	0.78167	0.0:0.0:0.8623:0.1376	.	.	.	.	.	-1	.	.	.	+	.	.	KL	32533918	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.805000	0.86005	1.380000	0.46344	0.655000	0.94253	.	KL	-	-	ENSG00000133116		0.463	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1		0	22	0	G		Intron	33635918	1			no_errors	ENST00000380099	ensembl	human	known	74_37	splice_site	11.11	16	2	SNP	1.000	T	T	33635918	G	T	33635918	5	4	95	1	0	0	0	0	0	0	1	0	8358	1275	44	3	2716	3	KL	13	33635918	Splice_Site	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	926631	33635918	81533960	228	27407											
NBEA	26960	genome.wustl.edu	37	chr13	36180665	36180665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggtaaatgatgttgatCttcccccttgggcaaaaaaa	13	12	9	7	0	1	2	0	2	1	0	2	2	2	2	2	2	0	3	2	2	6	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:36180665C>A	ENST00000400445.3	+	48	7933	c.7399C>A	c.(7399-7401)Ctt>Att	p.L2467I	NBEA_ENST00000540320.1_Missense_Mutation_p.L2467I|NBEA_ENST00000310336.4_Missense_Mutation_p.L2467I|NBEA_ENST00000379922.3_Missense_Mutation_p.L24I|NBEA_ENST00000537702.1_Missense_Mutation_p.L260I|NBEA_ENST00000379939.2_Missense_Mutation_p.L2464I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2467	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGATGTTGATCTTCCCCCTTG	0.403																																																	0													122	117	119					13																	36180665		1885	4116	6001	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"A-kinase anchor proteins", "WD repeat domain containing"	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7399C>A	13.37:g.36180665C>A	ENSP00000383295:p.Leu2467Ile		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.L2467I	ENST00000400445.3	37	c.7399	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476245	0.84640	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000543274;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	5.85	5.85	0.93711	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.98	D;D;D	0.97110	0.997;1.0;0.993	D	0.86897	0.2052	10	0.66056	D	0.02	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	2467;24;2464	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	I	2467;2467;2464;2467;1094;24;260;260;24	ENSP00000440951:L2467I;ENSP00000383295:L2467I;ENSP00000369271:L2464I;ENSP00000308534:L2467I;ENSP00000440233:L260I;ENSP00000369254:L24I	ENSP00000308534:L2467I	L	+	1	0	NBEA	35078665	0.994000	0.37717	0.935000	0.37517	0.991000	0.79684	3.159000	0.50731	2.767000	0.95098	0.563000	0.77884	CTT	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000172915		0.403	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0	65	0	C	NM_015678		36180665	1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	71.43	12	30	SNP	0.997	A	A	36180665	C	A	36180665	3	1	95	1	0	0	0	0	1	0	0	0	10225	913	32	3	7589	3	NBEA	13	36180665	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2544747	36180665	78989213	229	27408											
TRPC4	7223	genome.wustl.edu	37	chr13	38237745	38237745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaggtcccaggtgagaaTttgcagtaaacagtgagatc	13	8	13	7	0	0	3	0	2	0	3	2	5	1	3	1	2	2	3	1	2	3	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:38237745T>C	ENST00000379705.3	-	6	2353	c.1496A>G	c.(1495-1497)aAt>aGt	p.N499S	TRPC4_ENST00000379679.1_Missense_Mutation_p.N326S|TRPC4_ENST00000355779.2_Missense_Mutation_p.N499S|TRPC4_ENST00000447043.1_Missense_Mutation_p.N499S|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.N499S|TRPC4_ENST00000358477.2_Missense_Mutation_p.N499S|TRPC4_ENST00000338947.5_Missense_Mutation_p.N326S|TRPC4_ENST00000379681.3_Missense_Mutation_p.N499S|TRPC4_ENST00000494529.1_5'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	499					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGGTGAGAATTTGCAGTAAA	0.433																																																	0													88	87	88					13																	38237745		2203	4300	6503	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1496A>G	13.37:g.38237745T>C	ENSP00000369027:p.Asn499Ser		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.N499S	ENST00000379705.3	37	c.1496	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478302	0.84747	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91;-4.91	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	L	0.38649	1.16	0.80722	D	1	D;P;D;D;P;P	0.67145	0.982;0.83;0.996;0.988;0.913;0.916	P;P;D;D;P;D	0.73380	0.785;0.604;0.98;0.928;0.769;0.923	D	0.98824	1.0748	10	0.42905	T	0.14	-26.0273	16.6438	0.85155	0.0:0.0:0.0:1.0	.	499;499;499;326;499;499	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	S	499;499;326;326;499;499;499;499	ENSP00000369027:N499S;ENSP00000369003:N499S;ENSP00000342580:N326S;ENSP00000369001:N326S;ENSP00000348025:N499S;ENSP00000351264:N499S;ENSP00000368995:N499S;ENSP00000414316:N499S	ENSP00000342580:N326S	N	-	2	0	TRPC4	37135745	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.033000	0.88852	2.333000	0.79357	0.533000	0.62120	AAT	TRPC4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000133107		0.433	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2	-	0	39	0	T	NM_003306		38237745	-1	tier1	-	no_errors	ENST00000379681	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	C	C	38237745	T	C	38237745	3	2	95	1	0	0	0	0	1	0	0	0	16628	1493	52	4	1476	4	TRPC4	13	38237745	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	2057080	38237745	76932133	230	27409											
DGKH	160851	genome.wustl.edu	37	chr13	42764662	42764662	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccaaagaatcaataactgGtgaggaaactgggaaaaaat	19	7	10	5	0	1	2	1	1	0	1	1	4	1	4	1	3	3	0	1	3	8	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:42764662G>T	ENST00000337343.4	+	16	2056		c.e16+1		DGKH_ENST00000379274.2_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000261491.5_Splice_Site|DGKH_ENST00000538674.1_Splice_Site	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCAATAACTGGTGAGGAAACT	0.333																																																	0													81	79	80					13																	42764662		2203	4300	6503	SO:0001630	splice_region_variant	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2035+1G>T	13.37:g.42764662G>T			A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Splice_Site	SNP	-	e16+1	ENST00000337343.4	37	c.2035+1	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857706	0.32791	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4074	0.94653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKH	41662662	1.000000	0.71417	1.000000	0.80357	0.046000	0.14306	5.994000	0.70623	2.831000	0.97527	0.650000	0.86243	.	DGKH	-	-	ENSG00000102780		0.333	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	-	0	63	0	G	NM_178009	Intron	42764662	1	tier1	-	no_errors	ENST00000337343	ensembl	human	known	74_37	splice_site	7.02	53	4	SNP	1.000	T	T	42764662	G	T	42764662	5	4	95	1	0	0	0	0	0	0	1	0	4484	1275	44	3	2098	3	DGKH	13	42764662	Splice_Site	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	4526917	42764662	72405216	231	27410											
DGKH	160851	genome.wustl.edu	37	chr13	42780261	42780261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggaggcactaacttttgGggtggaactaaagaggatga	12	9	15	5	0	0	2	0	1	0	1	0	5	0	5	0	6	2	2	0	6	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:42780261G>T	ENST00000337343.4	+	21	2601	c.2580G>T	c.(2578-2580)tgG>tgT	p.W860C	DGKH_ENST00000379274.2_Missense_Mutation_p.W724C|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.W860C|DGKH_ENST00000536612.1_Missense_Mutation_p.W724C|DGKH_ENST00000261491.5_Missense_Mutation_p.W860C|DGKH_ENST00000538674.1_Missense_Mutation_p.W615C	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	860					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTAACTTTTGGGGTGGAACTA	0.393																																																	0													110	103	105					13																	42780261		2203	4300	6503	SO:0001583	missense	0			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2580G>T	13.37:g.42780261G>T	ENSP00000337572:p.Trp860Cys		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.W860C	ENST00000337343.4	37	c.2580	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380814	0.82792	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69	5.43	5.43	0.79202	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	H	0.94847	3.59	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.84613	0.0679	10	0.87932	D	0	.	19.5914	0.95514	0.0:0.0:1.0:0.0	.	615;724;860;860	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	C	860;860;860;724;724;615	ENSP00000440823:W860C;ENSP00000337572:W860C;ENSP00000261491:W860C;ENSP00000368576:W724C;ENSP00000445114:W724C;ENSP00000441308:W615C	ENSP00000261491:W860C	W	+	3	0	DGKH	41678261	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.720000	0.93068	0.591000	0.81541	TGG	DGKH	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000102780		0.393	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	-	0	80	0	G	NM_178009		42780261	1	tier1	-	no_errors	ENST00000337343	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	42780261	G	T	42780261	3	4	95	1	0	0	0	0	1	0	0	0	4484	1241	43	3	2662	3	DGKH	13	42780261	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	15599	42780261	72389617	232	27411											
TM9SF2	9375	genome.wustl.edu	37	chr13	100193874	100193874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtagctatgattatgttaCggacactgcacaaagatatt	13	13	9	6	1	0	2	0	1	0	1	0	3	0	3	0	2	3	4	0	2	6	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:100193874C>T	ENST00000376387.4	+	9	1160	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	324					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.R324G(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GATTATGTTACGGACACTGCA	0.358																																																	1	Substitution - Missense(1)	endometrium(1)											246	221	229					13																	100193874		2203	4300	6503	SO:0001583	missense	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.970C>T	13.37:g.100193874C>T	ENSP00000365567:p.Arg324Trp		A8K399|Q2TAY5	Missense_Mutation	SNP	pfam_EMP70	p.R324W	ENST00000376387.4	37	c.970	CCDS9493.1	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990669	0.74589	.	.	ENSG00000125304	ENST00000376387	T	0.70631	-0.5	5.24	4.31	0.51392	.	0.045428	0.85682	D	0.000000	D	0.89420	0.6710	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91779	0.5434	10	0.87932	D	0	-30.6882	10.6333	0.45549	0.4353:0.5647:0.0:0.0	.	290;324	E9PHW5;Q99805	.;TM9S2_HUMAN	W	324	ENSP00000365567:R324W	ENSP00000365567:R324W	R	+	1	2	TM9SF2	98991875	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.745000	0.47459	2.428000	0.82296	0.585000	0.79938	CGG	TM9SF2	-	pfam_EMP70	ENSG00000125304		0.358	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3		0	61	0	C			100193874	1			no_errors	ENST00000376387	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	100193874	C	T	100193874	3	4	95	1	0	0	0	0	1	0	0	0	16025	527	19	1	1004	1	TM9SF2	13	100193874	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	57413613	100193874	14976004	233	27412											
MYO16	23026	genome.wustl.edu	37	chr13	109672130	109672130	+	Frame_Shift_Del	DEL	A	A	-																															tcagtggaatcaaattttccAaaaaaactacaaagtctcct																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr13:109672130delA	ENST00000357550.2	+	22	2642	c.2601delA	c.(2599-2601)ccafs	p.P867fs	MYO16_ENST00000251041.5_Frame_Shift_Del_p.P867fs|MYO16_ENST00000457511.2_Frame_Shift_Del_p.P379fs|MYO16_ENST00000356711.2_Frame_Shift_Del_p.P867fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAAATTTTCCAAAAAAACTAC	0.423																																																	0													79	76	77					13																	109672130		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2601delA	13.37:g.109672130delA	ENSP00000350160:p.Pro867fs			Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K869fs	ENST00000357550.2	37	c.2601	CCDS32008.1	13																																																																																			MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000041515		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1		0	73	0	A	NM_015011		109672130	1	tier1		no_errors	ENST00000356711	ensembl	human	known	74_37	frame_shift_del	28.95	27	11	DEL	0.992	-	-	109672130	A	-	109672130	7	5	95	1	0	1	0	1	0	0	0	0	10102	117	5	0	2687	0	MYO16	13	109672130	Frame_Shift_Del	DEL	A	TCGA-L5-A8NW-01A-11D-A37C-09	9478256	109672130	5497748	234	27413											
NDRG2	57447	genome.wustl.edu	37	chr14	21488086	21488086	+	Frame_Shift_Del	DEL	A	A	-																															tacacccacttacctggctgAaaagatgtccaaggatcatc																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:21488086delA	ENST00000556147.1	-	9	1545	c.605delT	c.(604-606)ttcfs	p.F202fs	NDRG2_ENST00000298687.5_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000397851.2_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000350792.3_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000360463.3_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000554143.1_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000397858.1_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000397853.3_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000397855.3_Frame_Shift_Del_p.F159fs|NDRG2_ENST00000397856.3_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000397847.2_Frame_Shift_Del_p.F202fs|NDRG2_ENST00000298684.5_Frame_Shift_Del_p.F159fs|NDRG2_ENST00000553503.1_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000555158.1_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000554104.1_Frame_Shift_Del_p.F115fs|NDRG2_ENST00000397844.2_Frame_Shift_Del_p.F188fs|NDRG2_ENST00000403829.3_Frame_Shift_Del_p.F198fs			Q9UN36	NDRG2_HUMAN	NDRG family member 2	202					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TACCTGGCTGAAAAGATGTCC	0.522																																																	0													82	78	79					14																	21488086		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.605delT	14.37:g.21488086delA	ENSP00000451712:p.Phe202fs		B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Frame_Shift_Del	DEL	pfam_Ndr	p.F202fs	ENST00000556147.1	37	c.605	CCDS9565.1	14																																																																																			NDRG2	-	pfam_Ndr	ENSG00000165795		0.522	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NDRG2	HGNC	protein_coding	OTTHUMT00000411717.1		0	26	0	A			21488086	-1	tier1		no_errors	ENST00000298687	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-	-	21488086	A	-	21488086	7	5	95	1	0	1	0	1	0	0	0	0	10291	246	9	0	542	0	NDRG2	14	21488086	Frame_Shift_Del	DEL	A	TCGA-L5-A8NW-01A-11D-A37C-09		21488086	85861454	235	27414											
MYH6	4624	genome.wustl.edu	37	chr14	23872944	23872944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctctatgtctgcagaaGccagctttccagtggcccca	8	10	10	13	0	2	1	0	0	2	1	4	1	3	1	4	2	3	2	4	2	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:23872944G>T	ENST00000356287.3	-	8	808	c.779C>A	c.(778-780)gCt>gAt	p.A260D	MYH6_ENST00000405093.3_Missense_Mutation_p.A260D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	260	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTCTGCAGAAGCCAGCTTTCC	0.577																																																	0													53	47	49					14																	23872944		2203	4300	6503	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.779C>A	14.37:g.23872944G>T	ENSP00000348634:p.Ala260Asp		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A260D	ENST00000356287.3	37	c.779	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	18.89	3.719048	0.68844	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87887	-2.31;-2.31	3.45	3.45	0.39498	Myosin head, motor domain (2);	.	.	.	.	D	0.93566	0.7946	M	0.83774	2.66	0.53005	D	0.999962	B;B	0.23128	0.08;0.08	P;P	0.51833	0.681;0.681	D	0.94155	0.7409	9	0.87932	D	0	.	15.0426	0.71803	0.0:0.0:1.0:0.0	.	260;260	D9YZU2;P13533	.;MYH6_HUMAN	D	260	ENSP00000386041:A260D;ENSP00000348634:A260D	ENSP00000348634:A260D	A	-	2	0	MYH6	22942784	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	9.048000	0.93830	1.935000	0.56089	0.462000	0.41574	GCT	MYH6	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197616		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	-	0	56	0	G			23872944	-1	tier1	-	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	23872944	G	T	23872944	3	4	95	1	0	0	0	0	1	0	0	0	10076	971	34	3	5164	3	MYH6	14	23872944	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2384858	23872944	83476596	236	27415											
ADCY4	196883	genome.wustl.edu	37	chr14	24802185	24802185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggaagctcgggtctgAggtcagctcctgtgggcagg	6	8	18	9	1	3	1	2	1	1	0	5	2	4	2	1	6	2	3	1	6	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:24802185A>G	ENST00000310677.4	-	3	282	c.169T>C	c.(169-171)Tca>Cca	p.S57P	RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.L123P|ADCY4_ENST00000418030.2_Missense_Mutation_p.S57P|ADCY4_ENST00000554068.2_Missense_Mutation_p.S57P|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	57					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTCGGGTCTGAGGTCAGCTCC	0.647											OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26	34	32					14																	24802185		2203	4300	6503	SO:0001583	missense	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"Adenylate cyclases"	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.169T>C	14.37:g.24802185A>G	ENSP00000312126:p.Ser57Pro	774	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S57P	ENST00000310677.4	37	c.169	CCDS9627.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.23|15.23	2.772147|2.772147	0.49680|0.49680	.|.	.|.	ENSG00000258973|ENSG00000129467	ENST00000555591|ENST00000310677;ENST00000554068;ENST00000418030	.|T;T;T	.|0.76709	.|-1.04;-1.04;-1.04	5.93|5.93	2.15|2.15	0.27550|0.27550	.|.	.|0.571798	.|0.14699	.|N	.|0.303661	T|T	0.78842|0.78842	0.4347|0.4347	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;B	.|0.64830	.|0.994;0.023	.|D;B	.|0.66847	.|0.947;0.075	T|T	0.71283|0.71283	-0.4639|-0.4639	5|10	.|0.31617	.|T	.|0.26	.|.	11.4547|11.4547	0.50173|0.50173	0.5496:0.4504:0.0:0.0|0.5496:0.4504:0.0:0.0	.|.	.|57;57	.|G3V258;Q8NFM4	.|.;ADCY4_HUMAN	P|P	123|57	.|ENSP00000312126:S57P;ENSP00000452250:S57P;ENSP00000393177:S57P	.|ENSP00000312126:S57P	L|S	-|-	2|1	0|0	RP11-934B9.3|ADCY4	23872025|23872025	0.674000|0.674000	0.27549|0.27549	0.724000|0.724000	0.30704|0.30704	0.965000|0.965000	0.64279|0.64279	1.249000|1.249000	0.32839|0.32839	0.113000|0.113000	0.18004|0.18004	-0.478000|-0.478000	0.04885|0.04885	CTC|TCA	ADCY4	-	NULL	ENSG00000129467		0.647	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	-	0	48	0	A			24802185	-1	tier1	-	no_errors	ENST00000310677	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.836	G	G	24802185	A	G	24802185	3	3	95	1	0	0	0	0	1	0	0	0	296	304	11	4	3160	4	ADCY4	14	24802185	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	929241	24802185	82547355	237	27416											
FOXG1	2290	genome.wustl.edu	37	chr14	29237630	29237630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgcaccacctcacggccgCcgcgctagccgcctcggtgc	5	4	11	21	7	1	0	1	0	0	0	2	0	1	0	6	2	2	2	6	2	1	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:29237630C>T	ENST00000313071.4	+	1	1344	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	FOXG1_ENST00000382535.3_Missense_Mutation_p.A382V	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	382					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CTCACGGCCGCCGCGCTAGCC	0.697																																																	0													41	36	37					14																	29237630		2202	4297	6499	SO:0001583	missense	0				CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"Forkhead boxes"	3811	protein-coding gene	gene with protein product		164874	"forkhead box G1B", "forkhead box G1C", "forkhead box G1A"	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.1145C>T	14.37:g.29237630C>T	ENSP00000339004:p.Ala382Val		A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A382V	ENST00000313071.4	37	c.1145	CCDS9636.1	14	.	.	.	.	.	.	.	.	.	.	C	17.74	3.462880	0.63513	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.94046	-3.34;-3.34	4.21	4.21	0.49690	.	0.132985	0.49305	U	0.000146	D	0.90400	0.6995	N	0.19112	0.55	0.58432	D	0.999999	D	0.58268	0.982	P	0.48738	0.588	D	0.91922	0.5548	10	0.56958	D	0.05	.	16.9273	0.86180	0.0:1.0:0.0:0.0	.	382	P55316	FOXG1_HUMAN	V	382	ENSP00000371975:A382V;ENSP00000339004:A382V	ENSP00000339004:A382V	A	+	2	0	FOXG1	28307381	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.933000	0.70130	2.042000	0.60477	0.491000	0.48974	GCC	FOXG1	-	NULL	ENSG00000176165		0.697	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXG1	HGNC	protein_coding	OTTHUMT00000276559.3	-	0	29	0	C			29237630	1	tier1	-	no_errors	ENST00000313071	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T	T	29237630	C	T	29237630	3	4	95	1	0	0	0	0	1	0	0	0	6031	739	26	3	1147	3	FOXG1	14	29237630	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	4435445	29237630	78111910	238	27417											
FAM179B	23116	genome.wustl.edu	37	chr14	45433174	45433174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcctttgatcttgcccCagctcttgtagatagcaaac	9	13	7	12	0	2	2	0	1	2	1	3	2	3	2	3	0	4	3	3	0	3	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:45433174C>T	ENST00000361577.3	+	1	1764	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.P517L|KLHL28_ENST00000553817.1_5'UTR|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.P517L	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	517										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATCTTGCCCCAGCTCTTGTA	0.483																																																	0													127	114	118					14																	45433174		2203	4300	6503	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"KIAA0423"	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1550C>T	14.37:g.45433174C>T	ENSP00000355045:p.Pro517Leu		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P517L	ENST00000361577.3	37	c.1550	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118495	0.77323	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.73789	-0.78;-0.78;-0.78	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	D	0.84437	0.5472	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	0.978;1.0;0.999;0.978	P;D;D;P	0.91635	0.832;0.999;0.99;0.832	D	0.83650	0.0155	10	0.36615	T	0.2	-10.467	17.1888	0.86873	0.0:1.0:0.0:0.0	.	517;517;517;517	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	L	517	ENSP00000355045:P517L;ENSP00000354917:P517L;ENSP00000371668:P517L	ENSP00000354917:P517L	P	+	2	0	FAM179B	44502924	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.666000	0.68059	2.379000	0.81126	0.561000	0.74099	CCA	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.483	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1		0	57	0	C	XM_113781		45433174	1			no_errors	ENST00000361577	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T	T	45433174	C	T	45433174	3	4	95	1	0	0	0	0	1	0	0	0	5525	594	21	3	1552	3	FAM179B	14	45433174	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	16195544	45433174	61916366	239	27418											
SYNE2	23224	genome.wustl.edu	37	chr14	64591825	64591825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgggtattctacccaGcgtgactatgtataacttta	13	14	7	7	1	1	1	0	1	1	0	1	1	1	1	1	1	3	2	1	1	8	9			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:64591825G>T	ENST00000344113.4	+	71	13663	c.13451G>T	c.(13450-13452)aGc>aTc	p.S4484I	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S869I|SYNE2_ENST00000394768.2_Missense_Mutation_p.S869I|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1118I|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4484I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4484					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCTACCCAGCGTGACTATG	0.368																																																	0													103	99	100					14																	64591825		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13451G>T	14.37:g.64591825G>T	ENSP00000341781:p.Ser4484Ile		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4484I	ENST00000344113.4	37	c.13451	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026679	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768	T;T;T;T;T	0.51574	0.7;3.99;0.7;4.05;3.99	5.84	3.84	0.44239	.	0.205227	0.33691	N	0.004653	T	0.34513	0.0900	L	0.27053	0.805	0.80722	D	1	B;P;P	0.41524	0.257;0.638;0.753	B;B;B	0.40534	0.271;0.178;0.332	T	0.17899	-1.0354	10	0.51188	T	0.08	.	9.7546	0.40496	0.1363:0.0:0.7387:0.125	.	869;4484;4484	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4484;869;4484;1118;869	ENSP00000350719:S4484I;ENSP00000349969:S869I;ENSP00000341781:S4484I;ENSP00000450831:S1118I;ENSP00000378249:S869I	ENSP00000341781:S4484I	S	+	2	0	SYNE2	63661578	1.000000	0.71417	0.998000	0.56505	0.139000	0.21198	2.211000	0.42825	1.474000	0.48178	0.643000	0.83706	AGC	SYNE2	-	NULL	ENSG00000054654		0.368	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	64	0	G	NM_182914		64591825	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	5.48	67	4	SNP	0.931	T	T	64591825	G	T	64591825	3	4	95	1	0	0	0	0	1	0	0	0	15493	971	34	3	13729	3	SYNE2	14	64591825	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	19158651	64591825	42757715	240	27419											
RAD51L1	5890	genome.wustl.edu	37	chr14	68934957	68934957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcaaggaggaaggcctGgttcttcaaggtaagatcct	12	9	11	9	0	3	1	2	0	1	1	4	3	4	3	3	5	0	2	3	5	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:68934957G>A	ENST00000487270.1	+	10	1074	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Silent_p.L342L|RAD51B_ENST00000471583.1_Silent_p.L342L|RAD51B_ENST00000390683.3_Silent_p.L342L|RAD51B_ENST00000488612.1_Silent_p.L342L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	342					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGGAAGGCCTGGTTCTTCAAG	0.438								Direct reversal of damage																																									0													215	197	203					14																	68934957		2203	4300	6503	SO:0001819	synonymous_variant	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"RAD51 (S. cerevisiae)-like 1", "RAD51-like 1 (S. cerevisiae)", "RAD51 homolog B (S. cerevisiae)"	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.1026G>A	14.37:g.68934957G>A			O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L342	ENST00000487270.1	37	c.1026	CCDS9789.1	14																																																																																			RAD51B	-	pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like	ENSG00000182185		0.438	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	-	0	73	0	G			68934957	1	tier1	-	no_errors	ENST00000487270	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	A	A	68934957	G	A	68934957	2	1	95	1	0	0	0	0	0	0	0	1	13034	1335	47	3		3	RAD51L1	14	68934957	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	4343132	68934957	38414583	241	27420											
C14orf43	91748	genome.wustl.edu	37	chr14	74205351	74205351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccggcgcctccgtcgcGtgctctggatcactccgccc	3	8	11	19	6	2	0	1	0	1	0	5	1	4	1	5	2	2	1	5	2	0	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr14:74205351G>A	ENST00000286523.5	-	2	2143	c.1361C>T	c.(1360-1362)aCg>aTg	p.T454M	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.T454M|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										CCTCCGTCGCGTGCTCTGGAT	0.662																																																	0													52	48	49					14																	74205351		2203	4299	6502	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 117", "chromosome 14 open reading frame 43"	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1361C>T	14.37:g.74205351G>A	ENSP00000286523:p.Thr454Met		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.T454M	ENST00000286523.5	37	c.1361	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269256	0.59540	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.19105	2.18;2.18;2.18;2.17	4.69	4.69	0.59074	.	0.081565	0.51477	D	0.000084	T	0.32526	0.0832	L	0.32530	0.975	0.51233	D	0.999916	D;D	0.89917	0.997;1.0	P;D	0.71656	0.664;0.974	T	0.05517	-1.0880	10	0.87932	D	0	-12.4349	11.1738	0.48588	0.0851:0.0:0.9149:0.0	.	454;454	A0PJD3;Q6PJG2	.;CN043_HUMAN	M	454	ENSP00000377634:T454M;ENSP00000286523:T454M;ENSP00000407767:T454M;ENSP00000402380:T454M	ENSP00000286523:T454M	T	-	2	0	C14orf43	73275104	1.000000	0.71417	0.914000	0.36105	0.760000	0.43138	7.674000	0.83992	2.163000	0.67991	0.491000	0.48974	ACG	ELMSAN1	-	NULL	ENSG00000156030		0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0	18	0	G	NM_194278		74205351	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	missense	47.37	10	9	SNP	0.997	A	A	74205351	G	A	74205351	3	1	95	1	0	0	0	0	1	0	0	0	1779	1145	40	1	1820	1	C14orf43	14	74205351	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5270394	74205351	33144189	242	27421											
TMEM87A	25963	genome.wustl.edu	37	chr15	42556331	42556331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttctggaacaattttgatGatgtttgatatttcccagac	11	16	8	6	0	1	4	0	3	1	1	2	5	2	5	1	1	1	2	1	1	3	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:42556331G>A	ENST00000389834.4	-	4	626	c.362C>T	c.(361-363)tCa>tTa	p.S121L	TMEM87A_ENST00000448392.1_Missense_Mutation_p.S60L|TMEM87A_ENST00000307216.6_Missense_Mutation_p.S121L|TMEM87A_ENST00000568432.1_5'UTR	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	121						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CAATTTTGATGATGTTTGATA	0.318																																																	0													149	147	148					15																	42556331		2202	4297	6499	SO:0001583	missense	0			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.362C>T	15.37:g.42556331G>A	ENSP00000374484:p.Ser121Leu		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.S121L	ENST00000389834.4	37	c.362	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545401	0.45280	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	5.12	4.13	0.48395	.	0.462884	0.21826	N	0.068545	T	0.28466	0.0704	N	0.14661	0.345	0.33272	D	0.561183	B;B;B	0.15141	0.0;0.001;0.012	B;B;B	0.16722	0.001;0.004;0.016	T	0.26985	-1.0087	9	0.48119	T	0.1	-6.9457	7.6905	0.28565	0.1144:0.0:0.8856:0.0	.	121;60;121	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	L	121;60;97;121	.	ENSP00000305894:S121L	S	-	2	0	TMEM87A	40343623	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.768000	0.47645	2.646000	0.89796	0.655000	0.94253	TCA	TMEM87A	-	NULL	ENSG00000103978		0.318	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	-	0	57	0	G	NM_015497		42556331	-1	tier1	-	no_errors	ENST00000389834	ensembl	human	known	74_37	missense	81.63	9	40	SNP	1.000	A	A	42556331	G	A	42556331	3	1	95	1	0	0	0	0	1	0	0	0	16257	1294	45	3	1419	3	TMEM87A	15	42556331	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		42556331	59975061	243	27422											
FBN1	2200	genome.wustl.edu	37	chr15	48807662	48807662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagttggaatgcagcGtccattttgacagagatagc	11	9	12	9	1	0	2	0	1	0	1	1	5	1	4	2	2	3	2	2	2	2	4	rs587782943		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:48807662G>A	ENST00000316623.5	-	12	1845	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	464	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGAATGCAGCGTCCATTTTGA	0.483																																																	0													103	91	95					15																	48807662		2197	4296	6493	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1390C>T	15.37:g.48807662G>A	ENSP00000325527:p.Arg464Cys		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.R464C	ENST00000316623.5	37	c.1390	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929691	0.73327	.	.	ENSG00000166147	ENST00000316623	D	0.87729	-2.29	5.93	5.93	0.95920	Epidermal growth factor-like (1);	0.105158	0.64402	D	0.000004	D	0.92280	0.7551	H	0.95917	3.74	0.80722	D	1	D	0.60575	0.988	B	0.42386	0.386	D	0.94262	0.7503	10	0.66056	D	0.02	.	19.3421	0.94347	0.0:0.0:1.0:0.0	.	464	P35555	FBN1_HUMAN	C	464	ENSP00000325527:R464C	ENSP00000325527:R464C	R	-	1	0	FBN1	46594954	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.681000	0.61663	2.826000	0.97356	0.655000	0.94253	CGC	FBN1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN	ENSG00000166147		0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	-	0	37	0	G			48807662	-1	tier1	-	no_errors	ENST00000316623	ensembl	human	known	74_37	missense	58.06	13	18	SNP	1.000	A	A	48807662	G	A	48807662	3	1	95	1	0	0	0	0	1	0	0	0	5724	1145	40	1	7445	1	FBN1	15	48807662	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	6251331	48807662	53723730	244	27423											
RAB27A	5873	genome.wustl.edu	37	chr15	55516100	55516100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcacccatatttctctgCgagtgctatggcttcctcct	6	15	6	14	1	2	0	1	0	1	0	5	1	4	0	3	1	3	2	3	1	3	5	rs104894499		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:55516100C>T	ENST00000396307.2	-	5	705	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_ENST00000569493.1_Missense_Mutation_p.A152T|RAB27A_ENST00000336787.1_Missense_Mutation_p.A152T|RAB27A_ENST00000564609.1_Missense_Mutation_p.A152T	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport). {ECO:0000269|PubMed:10835631}.		antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393																																																	0			GRCh37	CM001324	RAB27A	M	rs104894499						177	181	180					15																	55516100		2193	4292	6485	SO:0001583	missense	0			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"RAB, member RAS oncogene"	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.454G>A	15.37:g.55516100C>T	ENSP00000379601:p.Ala152Thr		O00195|Q6FI40|Q9UIR9|Q9Y5U3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A152T	ENST00000396307.2	37	c.454	CCDS10153.1	15	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000069974	ENST00000396307;ENST00000336787	D;D	0.82167	-1.58;-1.58	5.82	5.82	0.92795	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90769	0.7102	M	0.83852	2.665	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	D	0.91633	0.5320	10	0.87932	D	0	-12.6781	18.6655	0.91488	0.0:1.0:0.0:0.0	.	152	P51159	RB27A_HUMAN	T	152	ENSP00000379601:A152T;ENSP00000337761:A152T	ENSP00000337761:A152T	A	-	1	0	RAB27A	53303392	1.000000	0.71417	0.993000	0.49108	0.428000	0.31595	7.532000	0.81985	2.746000	0.94184	0.555000	0.69702	GCA	RAB27A	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000069974		0.393	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	HGNC	protein_coding	OTTHUMT00000254918.1	-	0	76	0	C	NM_004580, NM_183236		55516100	-1	tier1	-	no_errors	ENST00000336787	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	55516100	C	T	55516100	3	4	95	1	0	0	0	0	1	0	0	0	12959	768	27	1	219	1	RAB27A	15	55516100	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	6708438	55516100	47015292	245	27424											
VPS13C	54832	genome.wustl.edu	37	chr15	62238035	62238035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgtggcatctggataaAgagtcagttggaacctaaag	12	11	11	7	0	3	1	1	0	2	1	3	3	3	3	1	3	1	2	1	3	5	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:62238035A>G	ENST00000261517.5	-	45	5100	c.5027T>C	c.(5026-5028)cTt>cCt	p.L1676P	VPS13C_ENST00000249837.3_Missense_Mutation_p.L1633P|VPS13C_ENST00000395896.4_Missense_Mutation_p.L1676P|VPS13C_ENST00000395898.3_Missense_Mutation_p.L1633P	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCTGGATAAAGAGTCAGTTG	0.368																																																	0													171	173	172					15																	62238035		2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5027T>C	15.37:g.62238035A>G	ENSP00000261517:p.Leu1676Pro			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.L1676P	ENST00000261517.5	37	c.5027	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	A	19.44	3.828151	0.71143	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T;T	0.54071	0.83;0.81;0.98;0.59	5.44	5.44	0.79542	.	0.075196	0.53938	D	0.000048	T	0.72803	0.3506	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.993;0.989	D;D;D;P	0.68192	0.956;0.956;0.956;0.905	T	0.75385	-0.3336	10	0.48119	T	0.1	.	15.481	0.75528	1.0:0.0:0.0:0.0	.	1633;1676;1633;1676	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	P	1633;1676;1676;1676	ENSP00000249837:L1633P;ENSP00000261517:L1676P;ENSP00000379233:L1676P;ENSP00000379235:L1676P	ENSP00000249837:L1633P	L	-	2	0	VPS13C	60025327	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	8.887000	0.92456	2.069000	0.61940	0.402000	0.26972	CTT	VPS13C	-	NULL	ENSG00000129003		0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	64	0	A	NM_017684		62238035	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	G	G	62238035	A	G	62238035	3	3	95	1	0	0	0	0	1	0	0	0	17240	72	3	4	6426	4	VPS13C	15	62238035	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	6721935	62238035	40293357	246	27425											
PLEKHO2	80301	genome.wustl.edu	37	chr15	65157548	65157548	+	Frame_Shift_Del	DEL	C	C	-																															agggtgggaagccccctacaCccccacccaagatcttatca																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:65157548delC	ENST00000323544.4	+	6	1062	c.934delC	c.(934-936)cccfs	p.P314fs	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	314	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCCCTACACCCCCACCCAA	0.617																																																	0													43	49	47					15																	65157548		2202	4299	6501	SO:0001589	frameshift_variant	0			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"Pleckstrin homology (PH) domain containing"	30026	protein-coding gene	gene with protein product			"pleckstrin homology domain containing, family Q member 1"	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.934delC	15.37:g.65157548delC	ENSP00000326706:p.Pro314fs		Q7L4H4|Q8WYS8	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P313fs	ENST00000323544.4	37	c.934	CCDS10196.1	15																																																																																			PLEKHO2	-	NULL	ENSG00000241839		0.617	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1		0	51	0	C	NM_025201		65157548	1	tier1		no_errors	ENST00000323544	ensembl	human	known	74_37	frame_shift_del	59.52	17	25	DEL	0.992	-	-	65157548	C	-	65157548	7	5	95	1	0	1	0	1	0	0	0	0	12124	507	18	0	956	0	PLEKHO2	15	65157548	Frame_Shift_Del	DEL	C	TCGA-L5-A8NW-01A-11D-A37C-09	2919513	65157548	37373844	247	27426											
C15orf60	283677	genome.wustl.edu	37	chr15	73843477	73843477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggattctgcaaagagtgtcCcacggcagcctggagtaagt	11	8	13	9	1	1	1	0	0	1	1	2	3	2	3	2	3	2	3	2	3	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:73843477C>T	ENST00000331090.6	+	4	560	c.532C>T	c.(532-534)Cca>Tca	p.P178S	C15orf60_ENST00000560581.1_Missense_Mutation_p.P150S	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		178					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						AAAGAGTGTCCCACGGCAGCC	0.507																																																	0													37	38	38					15																	73843477		1978	4176	6154	SO:0001583	missense	0																														ENST00000331090.6:c.532C>T	15.37:g.73843477C>T	ENSP00000328423:p.Pro178Ser			Missense_Mutation	SNP	NULL	p.P178S	ENST00000331090.6	37	c.532	CCDS45296.1	15	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433557	0.43224	.	.	ENSG00000183324	ENST00000331090	T	0.45668	0.89	5.25	2.07	0.26955	.	1.314060	0.04914	N	0.453662	T	0.44746	0.1308	L	0.60455	1.87	0.09310	N	1	D	0.59357	0.985	P	0.47827	0.558	T	0.25882	-1.0119	10	0.54805	T	0.06	-14.7971	3.4871	0.07624	0.3227:0.4508:0.1426:0.0839	.	178	Q7Z4M0	CO060_HUMAN	S	178	ENSP00000328423:P178S	ENSP00000328423:P178S	P	+	1	0	C15orf60	71630530	0.001000	0.12720	0.010000	0.14722	0.079000	0.17450	0.393000	0.20817	0.519000	0.28406	0.655000	0.94253	CCA	C15orf60	-	NULL	ENSG00000183324		0.507	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf60	HGNC	protein_coding	OTTHUMT00000419069.1	-	0	23	0	C			73843477	1	tier1	-	no_errors	ENST00000331090	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.000	T	T	73843477	C	T	73843477	3	4	95	1	0	0	0	0	1	0	0	0	1813	623	22	3	546	3	C15orf60	15	73843477	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	8685929	73843477	28687915	248	27427											
CLK3	1198	genome.wustl.edu	37	chr15	74912501	74912501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggagagggggccatacCggacccgcaagcatgcccac	9	2	15	15	4	0	1	0	0	0	1	0	3	0	2	4	4	3	2	4	4	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr15:74912501C>T	ENST00000395066.3	+	3	1209	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	CLK3_ENST00000345005.4_Missense_Mutation_p.R102W|CLK3_ENST00000352989.5_Missense_Mutation_p.R102W|CLK3_ENST00000348245.3_Missense_Mutation_p.R102W	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	250	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GGGGCCATACCGGACCCGCAA	0.612																																					Ovarian(133;694 1754 28950 29027 31859)												0													145	153	150					15																	74912501		2197	4296	6493	SO:0001583	missense	0			L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"CDC-like kinases"	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.748C>T	15.37:g.74912501C>T	ENSP00000378505:p.Arg250Trp		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R250W	ENST00000395066.3	37	c.748	CCDS45304.1	15	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762526	0.89932	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.54071	0.59;0.61	5.95	5.95	0.96441	.	0.349238	0.26470	N	0.024191	T	0.60689	0.2288	L	0.39898	1.24	0.40560	D	0.981206	D;D;D	0.89917	0.999;1.0;0.983	P;D;P	0.71184	0.719;0.972;0.483	T	0.61715	-0.7006	10	0.52906	T	0.07	.	9.4396	0.38659	0.1446:0.7825:0.0:0.0729	.	250;250;102	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	W	102;102;250;102;102	ENSP00000344112:R102W;ENSP00000323106:R102W	ENSP00000344112:R102W	R	+	1	2	CLK3	72699554	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.142000	0.50601	2.824000	0.97209	0.655000	0.94253	CGG	CLK3	-	NULL	ENSG00000179335		0.612	CLK3-003	KNOWN	basic|CCDS	protein_coding	CLK3	HGNC	protein_coding	OTTHUMT00000390442.3	-	0	29	0	C			74912501	1	tier1	-	no_errors	ENST00000395066	ensembl	human	known	74_37	missense	72.00	7	18	SNP	1.000	T	T	74912501	C	T	74912501	3	4	95	1	0	0	0	0	1	0	0	0	3545	643	23	1	758	1	CLK3	15	74912501	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1069024	74912501	27618891	249	27428											
TSC2	7249	genome.wustl.edu	37	chr16	2136353	2136353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaggacggccagttcaccTactgctggcacgatgacatc	9	8	12	12	2	1	2	1	2	0	0	2	4	1	3	2	3	2	3	2	3	1	2	rs137854399		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:2136353T>C	ENST00000219476.3	+	37	5452	c.4822T>C	c.(4822-4824)Tac>Cac	p.Y1608H	TSC2_ENST00000382538.6_Missense_Mutation_p.Y1493H|TSC2_ENST00000350773.4_Missense_Mutation_p.Y1585H|TSC2_ENST00000439673.2_Missense_Mutation_p.Y1505H|TSC2_ENST00000353929.4_Missense_Mutation_p.Y1565H|TSC2_ENST00000568454.1_Missense_Mutation_p.Y1552H|TSC2_ENST00000401874.2_Missense_Mutation_p.Y1541H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1608	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.Y1608D(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGTTCACCTACTGCTGGCA	0.667			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"E, O"	2	Substitution - Missense(2)	ovary(2)											137	105	116					16																	2136353		2196	4299	6495	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 160"	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4822T>C	16.37:g.2136353T>C	ENSP00000219476:p.Tyr1608His		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.Y1608H	ENST00000219476.3	37	c.4822	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050788	0.75960	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.21	4.21	0.49690	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97034	0.9031	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.997;0.998;0.999;0.998;0.998;0.998	D	0.97626	1.0139	10	0.87932	D	0	-28.2122	13.441	0.61112	0.0:0.0:0.0:1.0	.	1493;1505;1585;383;1564;1541;1608	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	H	1608;1542;1565;1505;1493;1585	ENSP00000219476:Y1608H;ENSP00000248099:Y1565H;ENSP00000399232:Y1505H;ENSP00000371978:Y1493H;ENSP00000344383:Y1585H	ENSP00000219476:Y1608H	Y	+	1	0	TSC2	2076354	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	6.071000	0.71229	1.761000	0.52028	0.459000	0.35465	TAC	TSC2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000103197		0.667	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2		0	24	0	T	NM_000548		2136353	1			no_errors	ENST00000219476	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	C	C	2136353	T	C	2136353	3	2	95	1	0	0	0	0	1	0	0	0	16654	1522	53	4	4964	4	TSC2	16	2136353	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09		2136353	88218400	250	27429											
C16orf68	79091	genome.wustl.edu	37	chr16	8719651	8719651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgaacagcgtggggcaGccaggtaaggtcctgggccc	7	5	17	12	2	0	1	0	1	0	0	1	1	1	1	3	6	3	3	3	6	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:8719651G>T	ENST00000381920.3	+	2	387	c.129G>T	c.(127-129)caG>caT	p.Q43H	METTL22_ENST00000561758.1_Missense_Mutation_p.Q43H	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	43						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						GCGTGGGGCAGCCAGGTAAGG	0.512																																																	0													100	97	98					16																	8719651		2003	4172	6175	SO:0001583	missense	0			AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"chromosome 16 open reading frame 68"	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.129G>T	16.37:g.8719651G>T	ENSP00000371345:p.Gln43His		B2RD29|D3DUF2|Q6XYB4|Q9HA03	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.Q43H	ENST00000381920.3	37	c.129	CCDS10533.2	16	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928060	0.52759	.	.	ENSG00000067365	ENST00000381920;ENST00000163678	T;T	0.67865	1.42;-0.29	4.92	2.57	0.30868	.	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	M	0.72894	2.215	0.51012	D	0.999906	D	0.89917	1.0	D	0.74023	0.982	T	0.78102	-0.2335	10	0.87932	D	0	-25.1574	9.4101	0.38487	0.2069:0.0:0.7931:0.0	.	43	Q9BUU2	MET22_HUMAN	H	43	ENSP00000371345:Q43H;ENSP00000163678:Q43H	ENSP00000163678:Q43H	Q	+	3	2	METTL22	8627152	1.000000	0.71417	0.999000	0.59377	0.543000	0.35085	2.502000	0.45398	1.067000	0.40740	-0.218000	0.12543	CAG	METTL22	-	NULL	ENSG00000067365		0.512	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL22	HGNC	protein_coding	OTTHUMT00000251901.1	-	0	38	0	G	NM_024109		8719651	1	tier1	-	no_errors	ENST00000381920	ensembl	human	known	74_37	missense	10.26	34	4	SNP	1.000	T	T	8719651	G	T	8719651	3	4	95	1	0	0	0	0	1	0	0	0	1832	962	34	3	131	3	C16orf68	16	8719651	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	6583298	8719651	81635102	251	27430											
CLEC16A	23274	genome.wustl.edu	37	chr16	11214478	11214478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcctcccagataacaGcgacttgattgcatgtacag	10	11	7	13	1	0	2	0	1	0	1	3	3	3	2	3	0	4	2	3	0	2	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:11214478G>T	ENST00000409790.1	+	20	2353	c.2123G>T	c.(2122-2124)aGc>aTc	p.S708I	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S690I|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCAGATAACAGCGACTTGATT	0.517																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											116	114	115					16																	11214478		2126	4240	6366	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"C-type lectin domain containing"	29013	protein-coding gene	gene with protein product		611303	"KIAA0350"	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2123G>T	16.37:g.11214478G>T	ENSP00000387122:p.Ser708Ile			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.S708I	ENST00000409790.1	37	c.2123	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872148	0.91587	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.53857	0.6	5.82	5.82	0.92795	.	0.080102	0.85682	D	0.000000	T	0.73361	0.3577	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.83275	0.724;0.996	T	0.73662	-0.3912	10	0.59425	D	0.04	-19.153	19.0811	0.93182	0.0:0.0:1.0:0.0	.	708;690	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	I	708;708;690	ENSP00000387122:S708I	ENSP00000386495:S690I	S	+	2	0	CLEC16A	11121979	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	9.238000	0.95380	2.756000	0.94617	0.561000	0.74099	AGC	CLEC16A	-	NULL	ENSG00000038532		0.517	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0	72	0	G	NM_015226		11214478	1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	11214478	G	T	11214478	3	4	95	1	0	0	0	0	1	0	0	0	3507	971	34	3	2197	3	CLEC16A	16	11214478	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2494827	11214478	79140275	252	27431											
AQP8	343	genome.wustl.edu	37	chr16	25228712	25228712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgggctgctgcagccggCcctggcccacgggctggctt	3	7	15	16	2	0	0	0	0	0	0	0	0	0	0	3	5	3	5	3	5	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:25228712C>T	ENST00000219660.5	+	2	331	c.206C>T	c.(205-207)gCc>gTc	p.A69V	AQP8_ENST00000566125.1_Missense_Mutation_p.A63V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	69					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CTGCAGCCGGCCCTGGCCCAC	0.607																																																	0													112	120	118					16																	25228712		2197	4300	6497	SO:0001583	missense	0			BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"Ion channels / Aquaporins"	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.206C>T	16.37:g.25228712C>T	ENSP00000219660:p.Ala69Val		Q8IUU3|Q9UIA4	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP	p.A69V	ENST00000219660.5	37	c.206	CCDS10626.1	16	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885324	0.91814	.	.	ENSG00000103375	ENST00000219660	D	0.89617	-2.54	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.95940	0.8678	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96690	0.9510	10	0.87932	D	0	-18.5842	18.0064	0.89211	0.0:1.0:0.0:0.0	.	69	O94778	AQP8_HUMAN	V	69	ENSP00000219660:A69V	ENSP00000219660:A69V	A	+	2	0	AQP8	25136213	1.000000	0.71417	0.919000	0.36401	0.517000	0.34286	7.316000	0.79007	2.595000	0.87683	0.555000	0.69702	GCC	AQP8	-	pfam_MIP,superfamily_Aquaporin-like	ENSG00000103375		0.607	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP8	HGNC	protein_coding	OTTHUMT00000214102.2	-	0	63	0	C	NM_001169		25228712	1	tier1	-	no_errors	ENST00000219660	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	25228712	C	T	25228712	3	4	95	1	0	0	0	0	1	0	0	0	832	739	26	3	212	3	AQP8	16	25228712	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	14014234	25228712	65126041	253	27432											
CHD9	80205	genome.wustl.edu	37	chr16	53340292	53340292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggatatatgctggcaGcctcgtattggccaaaggta	11	10	13	7	1	0	0	0	0	0	0	1	1	0	1	2	5	2	4	2	5	6	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:53340292G>T	ENST00000398510.3	+	31	6850	c.6763G>T	c.(6763-6765)Gcc>Tcc	p.A2255S	CHD9_ENST00000566029.1_Missense_Mutation_p.A2255S|CHD9_ENST00000447540.1_Missense_Mutation_p.A2256S|CHD9_ENST00000564845.1_Missense_Mutation_p.A2255S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2255					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATGCTGGCAGCCTCGTATTG	0.378																																																	0													76	74	75					16																	53340292		1873	4099	5972	SO:0001583	missense	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6763G>T	16.37:g.53340292G>T	ENSP00000381522:p.Ala2255Ser		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A2255S	ENST00000398510.3	37	c.6763		16	.	.	.	.	.	.	.	.	.	.	G	18.27	3.585877	0.66105	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.86562	-2.08;-2.14	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000017	D	0.89385	0.6700	L	0.36672	1.1	0.58432	D	0.99999	D;D;P;D;D	0.67145	0.983;0.993;0.827;0.995;0.996	P;P;B;P;D	0.65233	0.679;0.858;0.359;0.894;0.933	D	0.85187	0.1007	10	0.14656	T	0.56	-12.4407	19.7167	0.96124	0.0:0.0:1.0:0.0	.	321;2255;2256;2255;2255	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	S	2256;2255;321	ENSP00000396345:A2256S;ENSP00000381522:A2255S	ENSP00000381522:A2255S	A	+	1	0	CHD9	51897793	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.562000	0.82300	2.673000	0.90976	0.650000	0.86243	GCC	CHD9	-	NULL	ENSG00000177200		0.378	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1		0	64	0	G	NM_025134		53340292	1			no_errors	ENST00000398510	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	53340292	G	T	53340292	3	4	95	1	0	0	0	0	1	0	0	0	3339	971	34	3	6885	3	CHD9	16	53340292	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	28111580	53340292	37014461	254	27433											
IRX5	10265	genome.wustl.edu	37	chr16	54966542	54966542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggacgccacggctaccCtcaaggcctggctcaacgag	10	4	12	15	3	2	0	2	0	0	0	2	2	2	1	3	4	2	2	3	4	4	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:54966542C>G	ENST00000394636.4	+	2	719	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	IRX5_ENST00000558597.1_Missense_Mutation_p.L62V|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.L128V|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	128					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CACGGCTACCCTCAAGGCCTG	0.632																																																	0													145	112	123					16																	54966542		2198	4300	6498	SO:0001583	missense	0			U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"Homeoboxes / TALE class"	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.382C>G	16.37:g.54966542C>G	ENSP00000378132:p.Leu128Val		H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.L128V	ENST00000394636.4	37	c.382	CCDS10751.1	16	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831341	0.50845	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	D;D	0.95949	-3.86;-3.86	4.58	4.58	0.56647	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.82193	2.58	0.58432	D	0.999996	D	0.69078	0.997	D	0.85130	0.997	D	0.97447	1.0025	10	0.87932	D	0	-21.9084	10.7818	0.46382	0.0:0.9119:0.0:0.0881	.	128	P78411	IRX5_HUMAN	V	128	ENSP00000378132:L128V;ENSP00000316250:L128V	ENSP00000316250:L128V	L	+	1	0	IRX5	53524043	1.000000	0.71417	0.952000	0.39060	0.640000	0.38277	4.726000	0.61986	2.366000	0.80165	0.655000	0.94253	CTC	IRX5	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000176842		0.632	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IRX5	HGNC	protein_coding	OTTHUMT00000256911.2	-	0	85	0	C			54966542	1	tier1	-	no_errors	ENST00000394636	ensembl	human	known	74_37	missense	24.72	67	22	SNP	0.996	G	G	54966542	C	G	54966542	3	3	95	1	0	0	0	0	1	0	0	0	7874	681	24	5	388	5	IRX5	16	54966542	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1626250	54966542	35388211	255	27434											
CES1	1066	genome.wustl.edu	37	chr16	55855374	55855374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgttgtcctggacccagCgcagggcagccacctggtcc	7	7	12	15	1	0	0	0	0	0	0	2	1	2	1	5	3	2	3	5	3	1	1	rs2307243	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:55855374C>A	ENST00000361503.4	-	5	726	c.596G>T	c.(595-597)cGc>cTc	p.R199L	CES1_ENST00000422046.2_Missense_Mutation_p.R199L|CES1_ENST00000360526.3_Missense_Mutation_p.R200L|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	199			R -> H (in dbSNP:rs2307243).		epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CTGGACCCAGCGCAGGGCAGC	0.587																																					NSCLC(162;1801 2756 42904 52896)												0													51	53	53					16																	55855374		2198	4300	6498	SO:0001583	missense	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"Carboxylesterases"	1863	protein-coding gene	gene with protein product	"human monocyte/macrophage serine esterase 1"	114835	"carboxylesterase 1 (monocyte/macrophage serine esterase 1)"			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.596G>T	16.37:g.55855374C>A	ENSP00000355193:p.Arg199Leu		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R200L	ENST00000361503.4	37	c.599	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	13.61	2.289262	0.40494	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.70869	-0.52;-0.52;-0.52	4.18	-6.68	0.01778	Carboxylesterase, type B (1);	0.736535	0.12828	N	0.435838	T	0.69468	0.3114	M	0.83223	2.63	0.23978	N	0.996287	B;B;P	0.35050	0.249;0.249;0.482	B;B;B	0.37731	0.192;0.192;0.257	T	0.65384	-0.6181	10	0.72032	D	0.01	.	12.5112	0.56007	0.0:0.1933:0.0:0.8067	.	199;199;200	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	L	200;199;199;64	ENSP00000353720:R200L;ENSP00000355193:R199L;ENSP00000390492:R199L	ENSP00000353720:R200L	R	-	2	0	CES1	54412875	0.000000	0.05858	0.512000	0.27736	0.535000	0.34838	-2.000000	0.01466	-1.466000	0.01897	-1.355000	0.01225	CGC	CES1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000198848		0.587	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0	59	0	C	NM_001266		55855374	-1	tier1	-	no_errors	ENST00000360526	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.938	A	A	55855374	C	A	55855374	3	1	95	1	0	0	0	0	1	0	0	0	3276	768	27	2	1147	2	CES1	16	55855374	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	888832	55855374	34499379	256	27435											
CCDC135	84229	genome.wustl.edu	37	chr16	57741507	57741507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacatagctacagcacccagGatgagcacttcctgggcatc	11	7	10	13	0	0	1	0	1	0	0	2	3	1	2	2	2	4	4	2	2	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr16:57741507G>A	ENST00000360716.3	+	8	1215	c.994G>A	c.(994-996)Gat>Aat	p.D332N	CCDC135_ENST00000394337.4_Missense_Mutation_p.D332N|CCDC135_ENST00000336825.8_Missense_Mutation_p.D267N			Q8IY82	CC135_HUMAN		332					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CAGCACCCAGGATGAGCACTT	0.567																																																	0													84	69	74					16																	57741507		2196	4300	6496	SO:0001583	missense	0																														ENST00000360716.3:c.994G>A	16.37:g.57741507G>A	ENSP00000353942:p.Asp332Asn		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.D332N	ENST00000360716.3	37	c.994	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	.	13.29	2.191785	0.38707	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.74002	-0.8;-0.8;-0.8	5.03	5.03	0.67393	.	0.285520	0.38111	N	0.001802	T	0.81735	0.4885	L	0.60067	1.865	0.09310	N	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.963	T	0.72418	-0.4300	10	0.37606	T	0.19	-31.5988	10.9142	0.47126	0.086:0.0:0.914:0.0	.	267;332	Q8IY82-2;Q8IY82	.;CC135_HUMAN	N	332;267;332	ENSP00000377869:D332N;ENSP00000338938:D267N;ENSP00000353942:D332N	ENSP00000338938:D267N	D	+	1	0	CCDC135	56299008	0.978000	0.34361	0.968000	0.41197	0.090000	0.18270	2.920000	0.48844	2.332000	0.79248	0.637000	0.83480	GAT	CCDC135	-	NULL	ENSG00000159625		0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2		0	33	0	G			57741507	1			no_errors	ENST00000360716	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.156	A	A	57741507	G	A	57741507	3	1	95	1	0	0	0	0	1	0	0	0	2776	1174	41	3	1016	3	CCDC135	16	57741507	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1886133	57741507	32613246	257	27436											
SERPINF2	5345	genome.wustl.edu	37	chr17	1651988	1651988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggaaatgatgcaggcccGcacgtacccgctgcgctggt	7	7	14	13	5	0	1	0	1	0	0	0	2	0	2	2	3	3	5	2	3	2	1	rs144824741	byFrequency	TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:1651988G>A	ENST00000324015.3	+	8	889	c.812G>A	c.(811-813)cGc>cAc	p.R271H	SERPINF2_ENST00000450523.2_Missense_Mutation_p.R207H|SERPINF2_ENST00000382061.4_Missense_Mutation_p.R271H	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	271					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	ATGCAGGCCCGCACGTACCCG	0.612																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	106	101	102		812,812,620	-8.4	0	17	dbSNP_134	102	11,8589	8.4+/-32.0	0,11,4289	yes	missense,missense,missense	SERPINF2	NM_000934.3,NM_001165920.1,NM_001165921.1	29,29,29	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	benign,benign,benign	271/492,271/492,207/428	1651988	12,12994	2203	4300	6503	SO:0001583	missense	0			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"Serine (or cysteine) peptidase inhibitors"	9075	protein-coding gene	gene with protein product	"alpha-2-plasmin inhibitor", "alpha-2-antiplasmin"	613168	"serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.812G>A	17.37:g.1651988G>A	ENSP00000321853:p.Arg271His		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R271H	ENST00000324015.3	37	c.812	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	G	6.546	0.468969	0.12461	2.27E-4	0.001279	ENSG00000167711	ENST00000324015;ENST00000450523;ENST00000453723;ENST00000382061	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	4.95	-8.35	0.00984	Serpin domain (3);	1.066860	0.07143	N	0.847626	T	0.69333	0.3099	L	0.35644	1.08	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.53187	-0.8474	9	.	.	.	.	1.806	0.03081	0.6341:0.0858:0.1112:0.1688	.	207;271	B4E1B7;P08697	.;A2AP_HUMAN	H	271;207;155;271	ENSP00000321853:R271H;ENSP00000403877:R207H;ENSP00000402056:R155H;ENSP00000371493:R271H	.	R	+	2	0	SERPINF2	1598738	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.054000	0.11826	-1.847000	0.01173	-0.257000	0.10917	CGC	SERPINF2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000167711		0.612	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3	-	0	38	0	G	NM_000934		1651988	1	tier1	rs144824741	no_errors	ENST00000324015	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.002	A	A	1651988	G	A	1651988	3	1	95	1	0	0	0	0	1	0	0	0	14160	1087	38	1	848	1	SERPINF2	17	1651988	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		1651988	79543222	258	27437											
RABEP1	9135	genome.wustl.edu	37	chr17	5271755	5271755	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcaaagagggatgttcagGaacagatggtaagtttacat	15	9	13	4	0	1	2	1	0	0	2	1	4	1	4	0	4	2	4	0	4	4	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:5271755G>T	ENST00000546142.2	+	12	2063	c.1876G>T	c.(1876-1878)Gaa>Taa	p.E626*	RP11-420A6.2_ENST00000572792.1_RNA|RABEP1_ENST00000341923.6_Nonsense_Mutation_p.E626*|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000262477.6_Nonsense_Mutation_p.E626*|RABEP1_ENST00000408982.2_Nonsense_Mutation_p.E626*|RABEP1_ENST00000537505.1_Nonsense_Mutation_p.E583*			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	626					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GGATGTTCAGGAACAGATGGT	0.378																																																	0													129	127	128					17																	5271755		1858	4100	5958	SO:0001587	stop_gained	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1876G>T	17.37:g.5271755G>T	ENSP00000437701:p.Glu626*		B2RAG7|O95369|Q8IVX3	Nonsense_Mutation	SNP	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.E626*	ENST00000546142.2	37	c.1876	CCDS45592.1	17	.	.	.	.	.	.	.	.	.	.	G	40	8.530187	0.98850	.	.	ENSG00000029725	ENST00000262477;ENST00000408982;ENST00000539669;ENST00000546142;ENST00000341923;ENST00000537505	.	.	.	4.96	4.96	0.65561	.	0.157258	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-13.0437	17.3286	0.87257	0.0:0.0:1.0:0.0	.	.	.	.	X	626;626;619;626;626;583	.	ENSP00000262477:E626X	E	+	1	0	RABEP1	5212479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.726000	0.74758	2.746000	0.94184	0.591000	0.81541	GAA	RABEP1	-	pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	ENSG00000029725		0.378	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1		0	24	0	G	NM_004703		5271755	1			no_errors	ENST00000262477	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	1.000	T	T	5271755	G	T	5271755	4	4	95	1	0	0	0	0	0	1	0	0	13006	1175	41	3	1922	3	RABEP1	17	5271755	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	3619767	5271755	75923455	259	27438											
KIAA0753	9851	genome.wustl.edu	37	chr17	6513430	6513430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttgtctgctgcactctGcttttactgtgaggttggct	4	17	11	9	0	2	1	0	1	2	0	2	1	2	1	0	2	4	6	0	2	1	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:6513430G>T	ENST00000361413.3	-	9	1954	c.1596C>A	c.(1594-1596)agC>agA	p.S532R	KIAA0753_ENST00000572370.1_Missense_Mutation_p.S233R|KIAA0753_ENST00000542606.1_Missense_Mutation_p.S233R|KIAA0753_ENST00000589033.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	532						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCTGCACTCTGCTTTTACTGT	0.468																																																	0													182	177	179					17																	6513430		1927	4137	6064	SO:0001583	missense	0				CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1596C>A	17.37:g.6513430G>T	ENSP00000355250:p.Ser532Arg		A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	NULL	p.S532R	ENST00000361413.3	37	c.1596	CCDS42247.1	17	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646777	0.47258	.	.	ENSG00000198920	ENST00000361413;ENST00000542606	D;D	0.86164	-2.08;-2.08	5.14	4.17	0.49024	.	0.325905	0.36066	N	0.002817	D	0.87775	0.6262	M	0.73962	2.25	0.80722	D	1	P	0.44429	0.835	P	0.45971	0.499	D	0.87935	0.2713	10	0.72032	D	0.01	-3.0743	9.7976	0.40744	0.0959:0.0:0.9041:0.0	.	532	Q2KHM9	K0753_HUMAN	R	532;233	ENSP00000355250:S532R;ENSP00000444634:S233R	ENSP00000355250:S532R	S	-	3	2	KIAA0753	6454154	1.000000	0.71417	0.977000	0.42913	0.418000	0.31294	2.769000	0.47654	1.312000	0.45043	0.650000	0.86243	AGC	KIAA0753	-	NULL	ENSG00000198920		0.468	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0753	HGNC	protein_coding	OTTHUMT00000439769.3	-	0	66	0	G	NM_014804		6513430	-1	tier1	-	no_errors	ENST00000361413	ensembl	human	known	74_37	missense	8.62	53	5	SNP	0.958	T	T	6513430	G	T	6513430	3	4	95	1	0	0	0	0	1	0	0	0	8218	1310	46	3	1351	3	KIAA0753	17	6513430	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1241675	6513430	74681780	260	27439											
CHRNB1	1140	genome.wustl.edu	37	chr17	7348709	7348709	+	Frame_Shift_Del	DEL	T	T	-																															ggtcagcgttggtctcatccTggcgcaactcatcagcctgg																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:7348709delT	ENST00000306071.2	+	2	246	c.179delT	c.(178-180)ctgfs	p.L60fs	CHRNB1_ENST00000576360.1_5'Flank|RP11-104H15.10_ENST00000575331.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000536404.2_5'Flank	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	60					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	GGTCTCATCCTGGCGCAACTC	0.677																																																	0													16	17	17					17																	7348709		2201	4297	6498	SO:0001589	frameshift_variant	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.179delT	17.37:g.7348709delT	ENSP00000304290:p.Leu60fs		B7Z5H1|Q8IZ46|Q96FB8	Frame_Shift_Del	DEL	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L60fs	ENST00000306071.2	37	c.179	CCDS11106.1	17																																																																																			CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000170175		0.677	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3		0	17	0	T			7348709	1	tier1		no_errors	ENST00000306071	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.984	-	-	7348709	T	-	7348709	7	5	95	1	0	1	0	1	0	0	0	0	3397	1580	55	0	185	0	CHRNB1	17	7348709	Frame_Shift_Del	DEL	T	TCGA-L5-A8NW-01A-11D-A37C-09	835279	7348709	73846501	261	27440											
TP53	7157	genome.wustl.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49	49	49					17																	7578403		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C176F	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	20	0	C	NM_000546		7578403	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	53.12	15	17	SNP	1.000	A	A	7578403	C	A	7578403	3	1	95	1	0	0	0	0	1	0	0	0	16429	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	229694	7578403	73616807	262	27441											
CNTROB	116840	genome.wustl.edu	37	chr17	7851960	7851960	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaagcctgggaggaaggagGaaggattctccgggtggaag	12	5	18	6	1	1	0	0	0	1	0	2	6	1	6	2	7	1	0	2	7	4	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:7851960G>A	ENST00000563694.1	+	17	3438				CNTROB_ENST00000380262.3_Missense_Mutation_p.E846K|CNTROB_ENST00000380255.3_Intron|CNTROB_ENST00000565740.1_Intron	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein						centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGGAAGGAGGAAGGATTCTC	0.557																																																	0													109	108	108					17																	7851960		2203	4300	6503	SO:0001627	intron_variant	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"centrobin"	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2513+23G>A	17.37:g.7851960G>A			A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	NULL	p.E846K	ENST00000563694.1	37	c.2536	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639896	0.29157	.	.	ENSG00000170037	ENST00000380262	T	0.42131	0.98	5.05	1.89	0.25635	.	2.031230	0.02308	N	0.071842	T	0.22666	0.0547	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15521	-1.0434	9	0.12430	T	0.62	4.2334	3.4486	0.07490	0.0916:0.1602:0.5622:0.1859	.	846	Q8N137-2	.	K	846	ENSP00000369614:E846K	ENSP00000369614:E846K	E	+	1	0	CNTROB	7792685	0.006000	0.16342	0.000000	0.03702	0.010000	0.07245	0.876000	0.28092	0.266000	0.21894	-0.137000	0.14449	GAA	CNTROB	-	NULL	ENSG00000170037		0.557	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	-	0	46	0	G	NM_053051		7851960	1	tier1	-	no_errors	ENST00000380262	ensembl	human	known	74_37	missense	22.00	39	11	SNP	0.000	A	A	7851960	G	A	7851960	1	1	95	0	1	0	0	0	0	0	0	0	3658	1175	41	3		3	CNTROB	17	7851960	Intron	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	273557	7851960	73343250	263	27442											
CYTSB	92521	genome.wustl.edu	37	chr17	20013849	20013849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccatctcggagctcaCggagagccgcctgaggagcg	8	4	16	13	5	2	2	1	1	1	1	3	6	2	5	3	4	4	1	3	4	0	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:20013849C>T	ENST00000261503.5	+	3	308	c.257C>T	c.(256-258)aCg>aTg	p.T86M	SPECC1_ENST00000395529.3_Missense_Mutation_p.T86M|SPECC1_ENST00000395527.4_Missense_Mutation_p.T86M|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	86					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGGAGCTCACGGAGAGCCGC	0.652																																																	0													27	30	29					17																	20013849		2203	4300	6503	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"sperm antigen HCMOGT 1", "cytokinesis and spindle organization B", "cytospin B"	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.257C>T	17.37:g.20013849C>T	ENSP00000261503:p.Thr86Met		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T86M	ENST00000261503.5	37	c.257	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569053	0.28003	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529	T;T	0.64618	-0.11;2.86	5.47	5.47	0.80525	.	0.590398	0.17737	N	0.163709	T	0.56001	0.1956	L	0.34521	1.04	0.80722	D	1	P;P	0.43519	0.809;0.589	B;B	0.40677	0.337;0.054	T	0.61108	-0.7129	10	0.62326	D	0.03	0.1999	17.2037	0.86913	0.0:1.0:0.0:0.0	.	86;86	Q5M775-2;Q5M775	.;CYTSB_HUMAN	M	86	ENSP00000261503:T86M;ENSP00000378900:T86M	ENSP00000261503:T86M	T	+	2	0	SPECC1	19954441	0.083000	0.21467	0.006000	0.13384	0.003000	0.03518	4.759000	0.62227	2.749000	0.94314	0.655000	0.94253	ACG	SPECC1	-	NULL	ENSG00000128487		0.652	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	-	0	26	0	C	NM_152904		20013849	1	tier1	-	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.026	T	T	20013849	C	T	20013849	3	4	95	1	0	0	0	0	1	0	0	0	4219	536	19	1	263	1	CYTSB	17	20013849	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	12161889	20013849	61181361	264	27443											
TAOK1	57551	genome.wustl.edu	37	chr17	27805338	27805338	+	Frame_Shift_Del	DEL	A	A	-																															tgctcttcagggattagcctActtacattctcatactatga																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:27805338delA	ENST00000261716.3	+	6	941	c.422delA	c.(421-423)tacfs	p.Y141fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.Y141fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATTAGCCTACTTACATTCT	0.294																																																	0													105	110	108					17																	27805338		2203	4291	6494	SO:0001589	frameshift_variant	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.422delA	17.37:g.27805338delA	ENSP00000261716:p.Tyr141fs		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y141fs	ENST00000261716.3	37	c.422	CCDS32601.1	17																																																																																			TAOK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160551		0.294	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1		0	46	0	A	NM_020791		27805338	1	tier1		no_errors	ENST00000261716	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	1.000	-	-	27805338	A	-	27805338	7	5	95	1	0	1	0	1	0	0	0	0	15594	391	14	0	440	0	TAOK1	17	27805338	Frame_Shift_Del	DEL	A	TCGA-L5-A8NW-01A-11D-A37C-09	7791489	27805338	53389872	265	27444											
FBXO47	494188	genome.wustl.edu	37	chr17	37107882	37107882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcggcagagattagtcaGttcgcataagaaattataaa	15	11	9	6	2	1	2	1	0	0	2	2	3	1	2	0	1	1	3	0	1	6	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:37107882G>A	ENST00000378079.2	-	6	767	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	190										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGATTAGTCAGTTCGCATAAG	0.343																																																	0													82	77	79					17																	37107882		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"F-boxes /  "other""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.568C>T	17.37:g.37107882G>A			B2RTZ4	Silent	SNP	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.L190	ENST00000378079.2	37	c.568	CCDS32639.1	17																																																																																			FBXO47	-	NULL	ENSG00000204952		0.343	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO47	HGNC	protein_coding	OTTHUMT00000444073.1		0	49	0	G	NM_001008777		37107882	-1			no_errors	ENST00000378079	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.977	A	A	37107882	G	A	37107882	2	1	95	1	0	0	0	0	0	0	0	1	5778	1020	36	3		3	FBXO47	17	37107882	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	9302544	37107882	44087328	266	27445											
KRTAP4-9	100132386	genome.wustl.edu	37	chr17	39262214	39262214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacaccacttgctatcgcCcaacctgtgtcatctccagc	8	9	6	18	1	2	0	1	0	1	0	4	0	2	0	5	0	3	1	5	0	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:39262214C>T	ENST00000391415.1	+	1	631	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	192					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TTGCTATCGCCCAACCTGTGT	0.652																																																	0													55	60	59					17																	39262214		692	1590	2282	SO:0001583	missense	0			AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"Keratin associated proteins"	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.574C>T	17.37:g.39262214C>T	ENSP00000375234:p.Pro192Ser			Missense_Mutation	SNP	pfam_Keratin-assoc	p.P192S	ENST00000391415.1	37	c.574	CCDS54124.1	17	.	.	.	.	.	.	.	.	.	.	.	7.383	0.629106	0.14257	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00584	6.4	2.08	2.08	0.27032	.	0.523360	0.14159	U	0.337510	T	0.00845	0.0028	M	0.67397	2.05	0.23649	N	0.997203	B	0.21905	0.062	B	0.30179	0.112	T	0.40961	-0.9535	10	0.62326	D	0.03	.	4.6969	0.12808	0.0:0.817:0.0:0.183	.	192	Q9BYQ8	KRA49_HUMAN	S	180;192;183	ENSP00000375234:P192S	ENSP00000334461:P183S	P	+	1	0	KRTAP4-9	36515740	0.061000	0.20836	1.000000	0.80357	0.238000	0.25445	1.240000	0.32731	1.489000	0.48450	0.194000	0.17425	CCA	KRTAP4-9	-	NULL	ENSG00000212722		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-9	HGNC	protein_coding	OTTHUMT00000257688.1	-	0	153	0	C	NM_001146041		39262214	1	tier1	-	no_errors	ENST00000391415	ensembl	human	known	74_37	missense	33.11	99	49	SNP	0.984	T	T	39262214	C	T	39262214	3	4	95	1	0	0	0	0	1	0	0	0	8585	623	22	3	576	3	KRTAP4-9	17	39262214	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2154332	39262214	41932996	267	27446											
GRN	2896	genome.wustl.edu	37	chr17	42426907	42426907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagggacttccagttgctgCcccttcccagaggtgagcgt	6	10	12	13	1	1	2	1	1	0	1	3	3	3	3	4	2	3	2	4	2	0	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:42426907C>T	ENST00000053867.3	+	3	314	c.252C>T	c.(250-252)tgC>tgT	p.C84C	GRN_ENST00000589265.1_Silent_p.C84C	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	84					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCAGTTGCTGCCCCTTCCCAG	0.592																																																	0													89	96	93					17																	42426907		2203	4300	6503	SO:0001819	synonymous_variant	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"progranulin"	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.252C>T	17.37:g.42426907C>T			D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Silent	SNP	pfam_Granulin,smart_Granulin	p.C84	ENST00000053867.3	37	c.252	CCDS11483.1	17																																																																																			GRN	-	pfam_Granulin,smart_Granulin	ENSG00000030582		0.592	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	-	0	28	0	C	NM_002087		42426907	1	tier1	-	no_errors	ENST00000053867	ensembl	human	known	74_37	silent	27.27	8	3	SNP	1.000	T	T	42426907	C	T	42426907	2	4	95	1	0	0	0	0	0	0	0	1	6831	747	26	3		3	GRN	17	42426907	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	3164693	42426907	38768303	268	27447											
ABCA5	23461	genome.wustl.edu	37	chr17	67300826	67300827	+	Frame_Shift_Ins	INS	-	-	G																															tacagatgataatccataaaINSggaaaaaaagcagaaatatc																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:67300826_67300827insG	ENST00000392676.3	-	7	977_978	c.913_914insC	c.(913-915)cttfs	p.L305fs	ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.L305fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.L305fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	305					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TAATCCATAAAGGAAAAAAAGC	0.302																																																	0																																										SO:0001589	frameshift_variant	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"ATP binding cassette transporters / subfamily A"	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.914dupC	17.37:g.67300828_67300828dupG	ENSP00000376443:p.Leu305fs		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L305fs	ENST00000392676.3	37	c.914_913	CCDS11685.1	17																																																																																			ABCA5	-	NULL	ENSG00000154265		0.302	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1		0	85	0	-	NM_018672		67300827	-1	tier1		no_errors	ENST00000392677	ensembl	human	known	74_37	frame_shift_ins	14.58	41	7	INS	0.997:1.000	G	G	67300827	-	G	67300826	7	5	95	1	0	1	1	0	0	0	0	0	35	72	3	0	4146	0	ABCA5	17	67300826	Frame_Shift_Ins	INS	-	TCGA-L5-A8NW-01A-11D-A37C-09	24873919	67300826	13894384	269	27448											
EVPL	2125	genome.wustl.edu	37	chr17	74005674	74005674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctcctgctctgtctcCggatccacctggaagatctc	6	12	9	14	1	4	2	0	1	4	1	8	4	5	4	4	2	1	1	4	2	1	0	rs370565249		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:74005674C>T	ENST00000301607.3	-	22	3865	c.3612G>A	c.(3610-3612)ccG>ccA	p.P1204P	EVPL_ENST00000586740.1_Silent_p.P1226P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1204	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTCTGTCTCCGGATCCACCT	0.627																																																	0													87	72	77					17																	74005674		2203	4300	6503	SO:0001819	synonymous_variant	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3612G>A	17.37:g.74005674C>T			A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.P1204	ENST00000301607.3	37	c.3612	CCDS11737.1	17																																																																																			EVPL	-	superfamily_Ferritin-like_SF,smart_Plectin_repeat	ENSG00000167880		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	-	0	28	0	C	NM_001988		74005674	-1	tier1	-	no_errors	ENST00000301607	ensembl	human	known	74_37	silent	66.67	2	4	SNP	0.008	T	T	74005674	C	T	74005674	2	4	95	1	0	0	0	0	0	0	0	1	5308	639	23	1		1	EVPL	17	74005674	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	6704848	74005674	7189536	270	27449											
PCYT2	5833	genome.wustl.edu	37	chr17	79862952	79862952	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgcacctgttggtgaTgatccgctggacgatgaggt	8	10	13	10	2	0	3	0	3	0	0	1	5	1	4	3	3	2	3	3	3	1	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:79862952T>C	ENST00000538936.2	-	12	1156	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	PCYT2_ENST00000538721.2_Missense_Mutation_p.I368V|PCYT2_ENST00000570388.1_Missense_Mutation_p.I272V|PCYT2_ENST00000331285.3_Missense_Mutation_p.I272V|PCYT2_ENST00000570391.1_Missense_Mutation_p.I318V|PCYT2_ENST00000571105.1_Missense_Mutation_p.I328V	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	350					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	CTGTTGGTGATGATCCGCTGG	0.642																																																	0													65	58	60					17																	79862952		2202	4300	6502	SO:0001583	missense	0			D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.1048A>G	17.37:g.79862952T>C	ENSP00000439245:p.Ile350Val		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	pfam_Cyt_trans-like,tigrfam_Cyt_trans-like	p.I368V	ENST00000538936.2	37	c.1102	CCDS11791.1	17	.	.	.	.	.	.	.	.	.	.	T	14.95	2.689769	0.48097	.	.	ENSG00000185813	ENST00000538721;ENST00000538936;ENST00000331285	.	.	.	4.52	4.52	0.55395	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.100848	0.64402	D	0.000003	T	0.58708	0.2141	L	0.45422	1.42	0.80722	D	1	B;P;D;D;D	0.61080	0.415;0.79;0.959;0.989;0.974	B;B;P;P;P	0.58210	0.083;0.441;0.835;0.78;0.78	T	0.56492	-0.7970	9	0.05620	T	0.96	-24.7571	13.983	0.64317	0.0:0.0:0.0:1.0	.	318;318;368;272;350	B7Z4W6;B7ZAS0;F5H8B1;B7Z7A5;Q99447	.;.;.;.;PCY2_HUMAN	V	368;350;272	.	ENSP00000331719:I272V	I	-	1	0	PCYT2	77456244	1.000000	0.71417	1.000000	0.80357	0.088000	0.18126	7.441000	0.80485	1.883000	0.54544	0.379000	0.24179	ATC	PCYT2	-	NULL	ENSG00000185813		0.642	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT2	HGNC	protein_coding	OTTHUMT00000439939.1	-	0	24	0	T	NM_002861		79862952	-1	tier1	-	no_errors	ENST00000538721	ensembl	human	known	74_37	missense	32.26	21	10	SNP	1.000	C	C	79862952	T	C	79862952	3	2	95	1	0	0	0	0	1	0	0	0	11651	1464	51	4	129	4	PCYT2	17	79862952	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	5857278	79862952	1332258	271	27450											
FASN	2194	genome.wustl.edu	37	chr17	80048927	80048927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctcagccccatcccgCgccactgtgtgcccatccct	5	8	9	19	2	1	1	1	1	0	0	3	1	3	1	6	1	2	1	6	1	0	0	rs41283367		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:80048927C>T	ENST00000306749.2	-	10	1729	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	504	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCCCATCCCGCGCCACTGTGT	0.647													.|||	1	0.000199681	0	0	5008	,	,		16714	0		0.001	False		,,,				2504	0				Colon(59;314 1043 11189 28578 32273)												0													78	72	74					17																	80048927		2200	4299	6499	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1511G>A	17.37:g.80048927C>T	ENSP00000304592:p.Arg504His		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.R504H	ENST00000306749.2	37	c.1511	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884257	0.51908	.	.	ENSG00000169710	ENST00000306749	T	0.46819	0.86	4.94	2.91	0.33838	Acyl transferase/acyl hydrolase/lysophospholipase (1);Acyl transferase (1);Acyl transferase domain (1);	0.599178	0.16973	N	0.192005	T	0.33933	0.0880	N	0.20807	0.61	0.19945	N	0.999942	P	0.52842	0.956	P	0.46419	0.516	T	0.08066	-1.0740	10	0.44086	T	0.13	-8.8146	6.9519	0.24550	0.0:0.5969:0.0:0.4031	rs41283367	504	P49327	FAS_HUMAN	H	504	ENSP00000304592:R504H	ENSP00000304592:R504H	R	-	2	0	FASN	77642216	0.002000	0.14202	0.021000	0.16686	0.940000	0.58332	0.029000	0.13666	1.083000	0.41159	0.484000	0.47621	CGC	FASN	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,smart_PKS_acyl_transferase	ENSG00000169710		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	55	0	C	NM_004104		80048927	-1	tier1	rs41283367	no_errors	ENST00000306749	ensembl	human	known	74_37	missense	32.00	17	8	SNP	0.355	T	T	80048927	C	T	80048927	3	4	95	1	0	0	0	0	1	0	0	0	5705	768	27	1	6160	1	FASN	17	80048927	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	185975	80048927	1146283	272	27451											
FASN	2194	genome.wustl.edu	37	chr17	80048947	80048947	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccactgtgtgcccatcccTgtcccagagagcacgtcacg	7	7	10	17	3	1	1	1	0	0	1	3	2	3	1	4	0	2	1	4	0	0	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr17:80048947T>C	ENST00000306749.2	-	10	1711		c.e10-2			NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase						acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGCCCATCCCTGTCCCAGAGA	0.652																																					Colon(59;314 1043 11189 28578 32273)												0													66	62	64					17																	80048947		2201	4298	6499	SO:0001630	splice_region_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"Short chain dehydrogenase/reductase superfamily / Atypical members"	3594	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 27X, member 1"	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1493-2A>G	17.37:g.80048947T>C			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Splice_Site	SNP	-	e9-2	ENST00000306749.2	37	c.1493-2	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166964	0.38217	.	.	ENSG00000169710	ENST00000306749	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6543	0.62328	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FASN	77642236	1.000000	0.71417	0.995000	0.50966	0.252000	0.25951	5.786000	0.69006	1.833000	0.53350	0.352000	0.21897	.	FASN	-	-	ENSG00000169710		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0	58	0	T	NM_004104	Intron	80048947	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	splice_site	26.09	17	6	SNP	1.000	C	C	80048947	T	C	80048947	5	2	95	1	0	0	0	0	0	0	1	0	5705	1594	55	4	6180	4	FASN	17	80048947	Splice_Site	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	20	80048947	1146263	273	27452											
EPB41L3	23136	genome.wustl.edu	37	chr18	5398072	5398072	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctatgaattctgttggtTttcgcgcagactctaataaa	10	15	7	9	2	2	2	0	1	2	1	4	2	3	2	1	1	0	3	1	1	5	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:5398072T>G	ENST00000341928.2	-	17	2760	c.2420A>C	c.(2419-2421)aAa>aCa	p.K807T	EPB41L3_ENST00000427684.2_Missense_Mutation_p.K104T|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K807T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K638T|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Missense_Mutation_p.K112T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	807	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCTGTTGGTTTTCGCGCAGA	0.463																																																	0													226	231	229					18																	5398072		2203	4300	6503	SO:0001583	missense	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2420A>C	18.37:g.5398072T>G	ENSP00000343158:p.Lys807Thr		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.K807T	ENST00000341928.2	37	c.2420	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168951	0.78339	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000427684;ENST00000542146;ENST00000342933	D;D;T;T;D	0.83075	-1.52;-1.68;-0.77;-0.73;-1.52	6.17	6.17	0.99709	.	0.325584	0.35739	N	0.003004	D	0.89945	0.6862	M	0.70595	2.14	0.58432	D	0.999991	D;P;P;P;D	0.89917	1.0;0.605;0.912;0.469;0.999	D;B;P;B;D	0.83275	0.996;0.154;0.628;0.118;0.94	D	0.87358	0.2342	10	0.21014	T	0.42	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	638;104;112;199;807	F5GX05;E7EUF8;F5H7W5;B7Z8M8;Q9Y2J2	.;.;.;.;E41L3_HUMAN	T	807;638;104;112;807	ENSP00000343158:K807T;ENSP00000441174:K638T;ENSP00000392195:K104T;ENSP00000442233:K112T;ENSP00000341138:K807T	ENSP00000343158:K807T	K	-	2	0	EPB41L3	5388072	1.000000	0.71417	0.906000	0.35671	0.993000	0.82548	5.753000	0.68736	2.371000	0.80710	0.533000	0.62120	AAA	EPB41L3	-	pirsf_Band_41_protein	ENSG00000082397		0.463	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	33	0	T	NM_012307		5398072	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	missense	56.00	11	14	SNP	1.000	G	G	5398072	T	G	5398072	3	3	95	1	0	0	0	0	1	0	0	0	5170	1841	64	4	867	4	EPB41L3	18	5398072	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09		5398072	72679176	274	27453											
FAM38B	63895	genome.wustl.edu	37	chr18	10857193	10857194	+	Frame_Shift_Ins	INS	-	-	T																															cagtgcctcttctgaatcaaINSttttttctccttcagcctaa																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:10857193_10857194insT	ENST00000503781.3	-	6	507_508	c.508_509insA	c.(508-510)attfs	p.I170fs	PIEZO2_ENST00000302079.6_Frame_Shift_Ins_p.I170fs|PIEZO2_ENST00000580640.1_Frame_Shift_Ins_p.I170fs	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	170					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										TTCTGAATCAATTTTTTCTCCT	0.431																																																	0																																										SO:0001589	frameshift_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"chromosome 18 open reading frame 30", "chromosome 18 open reading frame 58", "family with sequence similarity 38, member B"	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.509dupA	18.37:g.10857199_10857199dupT	ENSP00000421377:p.Ile170fs		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Frame_Shift_Ins	INS	NULL	p.I170fs	ENST00000503781.3	37	c.509_508		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.431	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4		0	52	0	-	NM_022068		10857194	-1	tier1		no_errors	ENST00000582913	ensembl	human	known	74_37	frame_shift_ins	34.78	30	16	INS	0.851:0.539	T	T	10857194	-	T	10857193	7	5	95	1	0	1	1	0	0	0	0	0	5577	101	4	0	7937	0	FAM38B	18	10857193	Frame_Shift_Ins	INS	-	TCGA-L5-A8NW-01A-11D-A37C-09	5459121	10857193	67220055	275	27454											
CHST9	83539	genome.wustl.edu	37	chr18	24496706	24496706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgatactaatctttcCatgggatcacgaacaaacac	15	9	7	10	1	2	1	1	1	1	0	3	3	3	2	1	2	3	1	1	2	5	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:24496706C>T	ENST00000284224.8	-	6	1126	c.849G>A	c.(847-849)atG>atA	p.M283I	CHST9_ENST00000581714.1_Missense_Mutation_p.M283I|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	283					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTAATCTTTCCATGGGATCAC	0.383																																																	0													146	135	139					18																	24496706		1847	4089	5936	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"Sulfotransferases, membrane-bound"	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.849G>A	18.37:g.24496706C>T	ENSP00000284224:p.Met283Ile		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.M283I	ENST00000284224.8	37	c.849	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454377	0.26161	.	.	ENSG00000154080	ENST00000284224	T	0.71461	-0.57	6.17	5.3	0.74995	.	0.119337	0.64402	N	0.000012	T	0.56790	0.2009	N	0.20986	0.625	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.55055	-0.8200	10	0.59425	D	0.04	-16.6392	10.6281	0.45519	0.1317:0.8019:0.0:0.0664	.	283	Q7L1S5	CHST9_HUMAN	I	283	ENSP00000284224:M283I	ENSP00000284224:M283I	M	-	3	0	CHST9	22750704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.091000	0.30915	1.602000	0.50124	0.655000	0.94253	ATG	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.383	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	-	0	48	0	C	NM_031422		24496706	-1	tier1	-	no_errors	ENST00000284224	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	T	T	24496706	C	T	24496706	3	4	95	1	0	0	0	0	1	0	0	0	3418	594	21	3	486	3	CHST9	18	24496706	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	13639513	24496706	53580542	276	27455											
SLC39A6	25800	genome.wustl.edu	37	chr18	33706765	33706765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccttcaactgacaaaGaattattttctccatagcgg	13	12	6	10	1	2	3	1	2	1	1	3	3	2	3	2	1	3	0	2	1	6	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:33706765G>T	ENST00000590986.1	-	2	495	c.206C>A	c.(205-207)tCt>tAt	p.S69Y	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000269187.5_Missense_Mutation_p.S69Y			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	69					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						AACTGACAAAGAATTATTTTC	0.373																																																	0													139	130	133					18																	33706765		1855	4097	5952	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"Solute carriers"	18607	protein-coding gene	gene with protein product		608731	"solute carrier family 39 (metal ion transporter), member 6"			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.206C>A	18.37:g.33706765G>T	ENSP00000465915:p.Ser69Tyr		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.S69Y	ENST00000590986.1	37	c.206	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359045	0.41801	.	.	ENSG00000141424	ENST00000269187	T	0.25579	1.79	5.23	4.35	0.52113	.	0.125489	0.53938	D	0.000045	T	0.23410	0.0566	L	0.48642	1.525	0.80722	D	1	B	0.30406	0.278	B	0.27715	0.082	T	0.04565	-1.0942	10	0.66056	D	0.02	-4.8505	11.8309	0.52295	0.0866:0.0:0.9133:0.0	.	69	Q13433	S39A6_HUMAN	Y	69	ENSP00000269187:S69Y	ENSP00000269187:S69Y	S	-	2	0	SLC39A6	31960763	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	5.461000	0.66699	1.195000	0.43115	0.561000	0.74099	TCT	SLC39A6	-	NULL	ENSG00000141424		0.373	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	-	0	79	0	G			33706765	-1	tier1	-	no_errors	ENST00000269187	ensembl	human	known	74_37	missense	41.07	33	23	SNP	1.000	T	T	33706765	G	T	33706765	3	4	95	1	0	0	0	0	1	0	0	0	14667	942	33	3	2109	3	SLC39A6	18	33706765	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	9210059	33706765	44370483	277	27456											
MAPK4	5596	genome.wustl.edu	37	chr18	48256214	48256214	+	Frame_Shift_Del	DEL	A	A	-																															gaccgaggccttctccaaagAaaggtggtgagggcggaggg																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:48256214delA	ENST00000400384.2	+	6	2790	c.1754delA	c.(1753-1755)gaafs	p.E585fs	MAPK4_ENST00000540640.1_Frame_Shift_Del_p.E374fs|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	585					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTCTCCAAAGAAAGGTGGTGA	0.682																																																	0													14	17	16					18																	48256214		1951	4128	6079	SO:0001589	frameshift_variant	0			X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"Mitogen-activated protein kinase cascade / Kinases"	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1754delA	18.37:g.48256214delA	ENSP00000383234:p.Glu585fs		A1A4C4|Q0VG04	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.R586fs	ENST00000400384.2	37	c.1754	CCDS42437.1	18																																																																																			MAPK4	-	NULL	ENSG00000141639		0.682	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK4	HGNC	protein_coding	OTTHUMT00000448631.2		0	19	0	A	NM_002747		48256214	1	tier1		no_errors	ENST00000400384	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-	-	48256214	A	-	48256214	7	5	95	1	0	1	0	1	0	0	0	0	9318	246	9	0	1772	0	MAPK4	18	48256214	Frame_Shift_Del	DEL	A	TCGA-L5-A8NW-01A-11D-A37C-09	14549449	48256214	29821034	278	27457											
TCF4	6925	genome.wustl.edu	37	chr18	53017629	53017632	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															ggaacttttcgaactttcttTgtctgtacctctgaaagaaa																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	TGTC	TGTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:53017629_53017632delTGTC	ENST00000356073.4	-	8	1118_1121	c.507_510delGACA	c.(505-510)cagacafs	p.QT169fs	TCF4_ENST00000566279.1_Intron|TCF4_ENST00000564228.1_Frame_Shift_Del_p.QT98fs|TCF4_ENST00000566286.1_Frame_Shift_Del_p.QT167fs|TCF4_ENST00000540999.1_Frame_Shift_Del_p.QT145fs|TCF4_ENST00000570177.2_Frame_Shift_Del_p.QT39fs|TCF4_ENST00000537856.3_Frame_Shift_Del_p.QT39fs|TCF4_ENST00000568673.1_Frame_Shift_Del_p.QT145fs|TCF4_ENST00000537578.1_Frame_Shift_Del_p.QT145fs|TCF4_ENST00000398339.1_Frame_Shift_Del_p.QT271fs|TCF4_ENST00000544241.2_Frame_Shift_Del_p.QT98fs|TCF4_ENST00000564999.1_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000543082.1_Frame_Shift_Del_p.QT127fs|TCF4_ENST00000354452.3_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000561992.1_Frame_Shift_Del_p.QT39fs|TCF4_ENST00000564403.2_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000565018.2_Frame_Shift_Del_p.QT169fs|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000568740.1_Frame_Shift_Del_p.QT144fs	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	169					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)	p.K172fs*61(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAACTTTCTTTGTCTGTACCTCTG	0.368																																																	1	Deletion - Frameshift(1)	central_nervous_system(1)																																								SO:0001589	frameshift_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.507_510delGACA	18.37:g.53017629_53017632delTGTC	ENSP00000348374:p.Gln169fs		B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T272fs	ENST00000356073.4	37	c.816_813	CCDS11960.1	18																																																																																			TCF4	-	NULL	ENSG00000196628		0.368	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	HGNC	protein_coding	OTTHUMT00000256014.1		0	39	0	TGTC	NM_003199		53017632	-1	tier1		no_errors	ENST00000398339	ensembl	human	known	74_37	frame_shift_del	53.12	15	17	DEL	1.000:1.000:1.000:1.000	-	-	53017632	TGTC	-	53017629	7	5	95	1	0	1	0	1	0	0	0	0	15742	1799	63	0	1553	0	TCF4	18	53017629	Frame_Shift_Del	DEL	TGTC	TCGA-L5-A8NW-01A-11D-A37C-09	4761415	53017629	25059619	279	27458											
ST8SIA3	51046	genome.wustl.edu	37	chr18	55021680	55021680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgtcattcgtgcccattaCgaattctctcacccaggaac	9	10	6	16	3	3	0	2	0	1	0	5	2	3	1	3	1	3	0	3	1	3	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:55021680C>T	ENST00000324000.3	+	2	2261	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	76					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTGCCCATTACGAATTCTCTC	0.483																																																	0													139	131	133					18																	55021680		2203	4300	6503	SO:0001583	missense	0			AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"Sialyltransferases"	14269	protein-coding gene	gene with protein product	"ST8Sia III"	609478	"sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.227C>T	18.37:g.55021680C>T	ENSP00000320431:p.Thr76Met		A8K0F2|Q6B085|Q9NS41	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.T76M	ENST00000324000.3	37	c.227	CCDS32834.1	18	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880726	0.51801	.	.	ENSG00000177511	ENST00000541833;ENST00000324000	T	0.48836	0.8	4.88	3.99	0.46301	.	0.254112	0.44902	D	0.000408	T	0.34279	0.0892	L	0.39898	1.24	0.42629	D	0.993372	P	0.36660	0.564	B	0.26517	0.07	T	0.17198	-1.0377	10	0.38643	T	0.18	-17.139	12.6714	0.56870	0.1657:0.8343:0.0:0.0	.	76	O43173	SIA8C_HUMAN	M	183;76	ENSP00000320431:T76M	ENSP00000320431:T76M	T	+	2	0	ST8SIA3	53172678	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.055000	0.64282	1.140000	0.42260	0.467000	0.42956	ACG	ST8SIA3	-	pirsf_Sialyl_trans	ENSG00000177511		0.483	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ST8SIA3	HGNC	protein_coding	OTTHUMT00000449765.1	-	0	81	0	C	NM_015879		55021680	1	tier1	-	no_errors	ENST00000324000	ensembl	human	known	74_37	missense	35.29	33	18	SNP	1.000	T	T	55021680	C	T	55021680	3	4	95	1	0	0	0	0	1	0	0	0	15280	536	19	1	233	1	ST8SIA3	18	55021680	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	2004051	55021680	23055568	280	27459											
ATP8B1	5205	genome.wustl.edu	37	chr18	55359150	55359150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcatagaggtaccaaGaggaattgcccacctgtgct	11	9	9	12	0	1	2	1	0	0	2	2	3	2	3	4	2	3	2	4	2	4	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:55359150G>T	ENST00000283684.4	-	11	1108	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.S370Y|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	370					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S370F(2)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GAGGTACCAAGAGGAATTGCC	0.448																																																	2	Substitution - Missense(2)	lung(2)											134	114	120					18																	55359150		2203	4300	6503	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"ATPases / P-type"	3706	protein-coding gene	gene with protein product		602397	"ATPase, Class I, type 8B, member 1", "ATPase, class I, type 8B, member 1"	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1109C>A	18.37:g.55359150G>T	ENSP00000283684:p.Ser370Tyr		Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.S370Y	ENST00000283684.4	37	c.1109	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642662	0.29246	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.89810	-2.57;-2.57	5.82	5.82	0.92795	ATPase, P-type, ATPase-associated domain (1);	0.220373	0.48286	N	0.000181	D	0.90082	0.6902	L	0.37750	1.13	0.54753	D	0.999984	D	0.67145	0.996	D	0.65573	0.936	D	0.84160	0.0428	10	0.02654	T	1	.	19.6904	0.95998	0.0:0.0:1.0:0.0	.	370	O43520	AT8B1_HUMAN	Y	370	ENSP00000283684:S370Y;ENSP00000445359:S370Y	ENSP00000283684:S370Y	S	-	2	0	ATP8B1	53510148	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	5.670000	0.68088	2.767000	0.95098	0.655000	0.94253	TCT	ATP8B1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.448	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1		0	46	0	G	NM_005603		55359150	-1			no_errors	ENST00000283684	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	55359150	G	T	55359150	3	4	95	1	0	0	0	0	1	0	0	0	1195	942	33	3	2714	3	ATP8B1	18	55359150	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	337470	55359150	22718098	281	27460											
NFATC1	4772	genome.wustl.edu	37	chr18	77246370	77246370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagctcgcgatgccacccGaccccagctcctgcctcgtg	6	6	10	19	4	0	0	0	0	0	0	3	2	1	0	6	0	5	3	6	0	0	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr18:77246370G>A	ENST00000427363.2	+	9	2215	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000397790.2_Missense_Mutation_p.D267N|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000329101.4_Missense_Mutation_p.D726N|NFATC1_ENST00000545796.1_Missense_Mutation_p.D267N|NFATC1_ENST00000253506.5_Missense_Mutation_p.D739N|NFATC1_ENST00000318065.5_Missense_Mutation_p.D726N			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	739	Trans-activation domain B (TAD-B).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	GATGCCACCCGACCCCAGCTC	0.642																																					GBM(151;1210 2593 28719 45011)												0													110	126	120					18																	77246370		2203	4300	6503	SO:0001583	missense	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"Nuclear factor of activated T-cells"	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.2215G>A	18.37:g.77246370G>A	ENSP00000389377:p.Asp739Asn		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.D739N	ENST00000427363.2	37	c.2215		18	.	.	.	.	.	.	.	.	.	.	g	14.56	2.571014	0.45798	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.66	4.66	0.58398	.	0.108394	0.64402	D	0.000009	T	0.19967	0.0480	L	0.52011	1.625	0.58432	D	0.999998	P;B	0.35493	0.505;0.088	B;B	0.25405	0.06;0.008	T	0.04509	-1.0946	10	0.37606	T	0.19	-32.7777	17.9361	0.89012	0.0:0.0:1.0:0.0	.	739;726	O95644;B5B2M5	NFAC1_HUMAN;.	N	739;739;267;726;267;726;703	ENSP00000253506:D739N;ENSP00000380892:D267N;ENSP00000327850:D726N;ENSP00000439992:D267N	ENSP00000253506:D739N	D	+	1	0	NFATC1	75347358	1.000000	0.71417	0.152000	0.22495	0.005000	0.04900	6.529000	0.73812	2.303000	0.77524	0.639000	0.83563	GAC	NFATC1	-	NULL	ENSG00000131196		0.642	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	-	0	51	0	G	NM_172390		77246370	1	tier1	-	no_errors	ENST00000427363	ensembl	human	known	74_37	missense	31.25	22	10	SNP	1.000	A	A	77246370	G	A	77246370	3	1	95	1	0	0	0	0	1	0	0	0	10400	1058	37	1	2400	1	NFATC1	18	77246370	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	21887220	77246370	830878	282	27461											
S1PR4	8698	genome.wustl.edu	37	chr19	3179262	3179262	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagagcggggccaccAagaccagccgcgtctacggc	8	3	15	15	5	1	2	0	0	1	2	1	3	1	2	5	4	3	0	5	4	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:3179262A>T	ENST00000246115.3	+	1	527	c.472A>T	c.(472-474)Aag>Tag	p.K158*	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	158					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGGGGCCACCAAGACCAGCCG	0.682																																					GBM(82;318 1638 33279 49708)												0													36	42	40					19																	3179262		2165	4252	6417	SO:0001587	stop_gained	0			AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"	3170	protein-coding gene	gene with protein product		603751	"endothelial differentiation, G-protein-coupled receptor 6", "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.472A>T	19.37:g.3179262A>T	ENSP00000246115:p.Lys158*		D6W612	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn	p.K158*	ENST00000246115.3	37	c.472	CCDS12105.1	19	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704711	0.68615	.	.	ENSG00000125910	ENST00000246115	.	.	.	4.17	4.17	0.49024	.	0.379497	0.25786	N	0.028313	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	12.346	0.55122	1.0:0.0:0.0:0.0	.	.	.	.	X	158	.	ENSP00000246115:K158X	K	+	1	0	S1PR4	3130262	1.000000	0.71417	0.300000	0.25030	0.096000	0.18686	5.801000	0.69115	1.660000	0.50760	0.379000	0.24179	AAG	S1PR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt	ENSG00000125910		0.682	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR4	HGNC	protein_coding	OTTHUMT00000452517.1	-	0	55	0	A	NM_003775		3179262	1	tier1	-	no_errors	ENST00000246115	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.988	T	T	3179262	A	T	3179262	4	4	95	1	0	0	0	0	0	1	0	0	13841	131	5	5	474	5	S1PR4	19	3179262	Nonsense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09		3179262	55949721	283	27462											
SEMA6B	10501	genome.wustl.edu	37	chr19	4552604	4552604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccagcacgcggggggaGcctcccacgtcgttcttgca	5	9	12	15	4	2	0	0	0	2	0	5	1	3	1	3	3	3	3	3	3	0	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:4552604G>T	ENST00000586582.1	-	10	1129	c.819C>A	c.(817-819)ggC>ggA	p.G273G	SEMA6B_ENST00000301293.3_Silent_p.G273G|SEMA6B_ENST00000586965.1_Silent_p.G273G	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	273	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGGGGGAGCCTCCCACGT	0.652																																																	0													34	30	31					19																	4552604		2202	4296	6498	SO:0001819	synonymous_variant	0			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"Semaphorins"	10739	protein-coding gene	gene with protein product	"Sema VIb", "semaphorin Z", "semaphorin VIB"	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.819C>A	19.37:g.4552604G>T			A5PKU4|F6IB19|Q9NRK9	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.G273	ENST00000586582.1	37	c.819	CCDS12131.1	19																																																																																			SEMA6B	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000167680		0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2		0	100	0	G	NM_032108		4552604	-1			no_errors	ENST00000301293	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	T	T	4552604	G	T	4552604	2	4	95	1	0	0	0	0	0	0	0	1	14085	958	34	3		3	SEMA6B	19	4552604	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1373342	4552604	54576379	284	27463											
PTPRS	5802	genome.wustl.edu	37	chr19	5229535	5229535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgacgtccttgatgcgCggcggcccgcgggcctcggc	4	6	16	15	7	0	2	0	2	0	0	2	2	1	2	3	4	2	1	3	4	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:5229535C>T	ENST00000587303.1	-	14	2415	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000588012.1_Silent_p.P759P|PTPRS_ENST00000262963.6_Silent_p.P768P|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000348075.2_Silent_p.P759P|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000357368.4_Silent_p.P772P|PTPRS_ENST00000372412.4_Silent_p.P773P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	772	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCTTGATgcgcggcggcccgc	0.801																																																	0																																										SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2316G>A	19.37:g.5229535C>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.P773	ENST00000587303.1	37	c.2319	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.801	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0	11	0	C			5229535	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	silent	62.50	3	5	SNP	1.000	T	T	5229535	C	T	5229535	2	4	95	1	0	0	0	0	0	0	0	1	12856	755	27	1		1	PTPRS	19	5229535	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	676931	5229535	53899448	285	27464											
ZNRF4	148066	genome.wustl.edu	37	chr19	5455606	5455606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattccaactcaactgccctCgcgtcctggccacaggcccc	7	7	7	20	2	1	0	1	0	0	0	4	0	3	0	6	2	3	0	6	2	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:5455606C>T	ENST00000222033.4	+	1	181	c.104C>T	c.(103-105)tCg>tTg	p.S35L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	35						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAACTGCCCTCGCGTCCTGGC	0.667																																																	0													38	45	43					19																	5455606		2077	4194	6271	SO:0001583	missense	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"RING-type (C3HC4) zinc fingers"	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.104C>T	19.37:g.5455606C>T	ENSP00000222033:p.Ser35Leu		A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S35L	ENST00000222033.4	37	c.104	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583077	0.13749	.	.	ENSG00000105428	ENST00000222033	T	0.03951	3.75	2.25	1.18	0.20946	.	.	.	.	.	T	0.02610	0.0079	L	0.27053	0.805	0.09310	N	1	P	0.41102	0.738	B	0.16289	0.015	T	0.45220	-0.9276	9	0.72032	D	0.01	.	6.8486	0.24003	0.0:0.7089:0.2911:0.0	.	35	Q8WWF5	ZNRF4_HUMAN	L	35	ENSP00000222033:S35L	ENSP00000222033:S35L	S	+	2	0	ZNRF4	5406606	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.039000	0.12124	0.503000	0.28060	-0.802000	0.03209	TCG	ZNRF4	-	NULL	ENSG00000105428		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	-	0	85	0	C	NM_181710		5455606	1	tier1	-	no_errors	ENST00000222033	ensembl	human	known	74_37	missense	60.00	18	27	SNP	0.001	T	T	5455606	C	T	5455606	3	4	95	1	0	0	0	0	1	0	0	0	18262	893	31	1	106	1	ZNRF4	19	5455606	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	226071	5455606	53673377	286	27465											
SMARCA4	6597	genome.wustl.edu	37	chr19	11137009	11137009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacttggggttcactggcGgcattgtccaagggtgagaa	9	9	15	8	1	1	1	1	1	0	1	2	2	2	1	1	5	1	3	1	5	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:11137009G>A	ENST00000429416.3	+	24	3483	c.3202G>A	c.(3202-3204)Ggc>Agc	p.G1068S	SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068S|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1068S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1068					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GTTCACTGGCGGCATTGTCCA	0.597			"F, N, Mis"		NSCLC																																			Rec	yes		19	19p13.2	6597	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"		E	1	Unknown(1)	lung(1)											82	69	73					19																	11137009		2203	4300	6503	SO:0001583	missense	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3202G>A	19.37:g.11137009G>A	ENSP00000395654:p.Gly1068Ser		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.G1068S	ENST00000429416.3	37	c.3202	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086456	0.55861	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.49	4.49	0.54785	.	0.060357	0.64402	D	0.000003	T	0.71962	0.3402	M	0.70108	2.13	0.58432	D	0.999996	B;P;B;B;P;P;B;B	0.43857	0.449;0.635;0.449;0.152;0.819;0.718;0.152;0.152	B;B;B;B;B;B;B;B	0.36335	0.103;0.137;0.103;0.044;0.222;0.158;0.065;0.065	T	0.79022	-0.1973	10	0.66056	D	0.02	-29.5641	16.1707	0.81812	0.0:0.0:1.0:0.0	.	1068;1068;1068;1068;1068;288;1068;1068	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	S	1068;1068;1132;1068;1068;1068;1068;1068	ENSP00000395654:G1068S;ENSP00000350720:G1068S;ENSP00000343896:G1068S;ENSP00000445036:G1068S;ENSP00000392837:G1068S;ENSP00000397783:G1068S;ENSP00000414727:G1068S	ENSP00000343896:G1068S	G	+	1	0	SMARCA4	10998009	1.000000	0.71417	0.975000	0.42487	0.502000	0.33828	7.332000	0.79203	2.351000	0.79841	0.555000	0.69702	GGC	SMARCA4	-	superfamily_P-loop_NTPase	ENSG00000127616		0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	-	0	63	0	G	NM_003072		11137009	1	tier1	-	no_errors	ENST00000358026	ensembl	human	known	74_37	missense	69.23	12	27	SNP	1.000	A	A	11137009	G	A	11137009	3	1	95	1	0	0	0	0	1	0	0	0	14815	1116	39	1	3288	1	SMARCA4	19	11137009	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	5681403	11137009	47991974	287	27466											
ZNF625	90589	genome.wustl.edu	37	chr19	12256139	12256139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttctcgccttggcctttCgaagtgttggagctacaggg	6	13	12	10	2	2	0	0	0	2	0	4	2	2	1	2	3	2	2	2	3	2	5	rs115447016		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:12256139C>T	ENST00000355738.1	-	4	1243	c.894G>A	c.(892-894)tcG>tcA	p.S298S	ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Silent_p.S298S|ZNF625_ENST00000439556.2_Silent_p.S364S|ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA			Q96I27	ZN625_HUMAN	zinc finger protein 625	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CTTGGCCTTTCGAAGTGTTGG	0.423																																																	0								C		3,4403	6.2+/-15.9	0,3,2200	98	91	94		1092	0.6	0	19	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous	ZNF625	NM_145233.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		364/373	12256139	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"Zinc fingers, C2H2-type", "-"	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.894G>A	19.37:g.12256139C>T			A4FU45|I3L0E9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S364	ENST00000355738.1	37	c.1092		19																																																																																			ZNF625	-	NULL	ENSG00000257591		0.423	ZNF625-201	KNOWN	basic	protein_coding	ZNF625	HGNC	protein_coding		-	0	108	0	C	NM_145233		12256139	-1	tier1	rs115447016	no_errors	ENST00000439556	ensembl	human	known	74_37	silent	64.20	29	52	SNP	0.038	T	T	12256139	C	T	12256139	2	4	95	1	0	0	0	0	0	0	0	1	18097	871	31	1		1	ZNF625	19	12256139	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1119130	12256139	46872844	288	27467											
C19orf57	79173	genome.wustl.edu	37	chr19	14000750	14000750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgggggtcaggggagcCctgggccacagacccgggtt	5	6	18	12	1	1	1	1	0	0	1	1	2	1	2	3	6	2	2	3	6	0	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:14000750C>T	ENST00000586783.1	-	5	918	c.919G>A	c.(919-921)Ggc>Agc	p.G307S	C19orf57_ENST00000346736.2_Missense_Mutation_p.G307S|C19orf57_ENST00000454313.1_Missense_Mutation_p.G307S|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	307					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCAGGGGAGCCCTGGGCCACA	0.662																																																	0													21	22	21					19																	14000750		2203	4297	6500	SO:0001583	missense	0			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.919G>A	19.37:g.14000750C>T	ENSP00000465822:p.Gly307Ser		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.G307S	ENST00000586783.1	37	c.919		19	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825528	0.71143	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.45276	0.9;0.9	4.02	4.02	0.46733	.	0.745630	0.11051	N	0.605097	T	0.46776	0.1410	L	0.32530	0.975	0.09310	N	1	D;P	0.60160	0.987;0.939	P;P	0.56751	0.805;0.531	T	0.28038	-1.0056	10	0.33940	T	0.23	-2.6674	11.9944	0.53194	0.0:1.0:0.0:0.0	.	307;307	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	S	307	ENSP00000404382:G307S;ENSP00000254336:G307S	ENSP00000254336:G307S	G	-	1	0	C19orf57	13861750	0.012000	0.17670	0.002000	0.10522	0.371000	0.29859	1.857000	0.39399	1.937000	0.56155	0.313000	0.20887	GGC	C19orf57	-	NULL	ENSG00000132016		0.662	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	-	0	54	0	C	NM_024323		14000750	-1	tier1	-	no_errors	ENST00000454313	ensembl	human	known	74_37	missense	24.07	41	13	SNP	0.005	T	T	14000750	C	T	14000750	3	4	95	1	0	0	0	0	1	0	0	0	1946	623	22	3	1006	3	C19orf57	19	14000750	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	1744611	14000750	45128233	289	27468											
MAP1S	55201	genome.wustl.edu	37	chr19	17837647	17837647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacagctcgaagagagAgggcctcctggccacccacc	9	3	13	16	2	0	2	0	0	0	2	2	5	1	3	6	3	1	1	6	3	1	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:17837647A>G	ENST00000324096.4	+	5	1605	c.1454A>G	c.(1453-1455)gAg>gGg	p.E485G	MAP1S_ENST00000544059.2_Missense_Mutation_p.E459G|MAP1S_ENST00000597681.1_Intron|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	485	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCGAAGAGAGAGGGCCTCCTG	0.697																																																	0													4	5	5					19																	17837647		2024	4016	6040	SO:0001583	missense	0			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"chromosome 19 open reading frame 5", "VCY2 interacting protein 1", "BPY2 interacting protein 1"	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1454A>G	19.37:g.17837647A>G	ENSP00000325313:p.Glu485Gly		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.E485G	ENST00000324096.4	37	c.1454	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	A	13.28	2.190488	0.38707	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.03580	3.88;3.88	2.71	1.5	0.22942	.	0.211342	0.23962	N	0.042846	T	0.05044	0.0135	L	0.31207	0.915	0.09310	N	1	D;D;B	0.54207	0.965;0.965;0.046	P;P;B	0.52793	0.709;0.709;0.008	T	0.30387	-0.9980	10	0.54805	T	0.06	.	6.5597	0.22479	0.7553:0.2446:0.0:0.0	.	459;485;485	B4DH53;A8K940;Q66K74	.;.;MAP1S_HUMAN	G	485;459	ENSP00000325313:E485G;ENSP00000439243:E459G	ENSP00000325313:E485G	E	+	2	0	MAP1S	17698647	0.080000	0.21391	0.049000	0.19019	0.094000	0.18550	0.550000	0.23345	1.012000	0.39366	0.402000	0.26972	GAG	MAP1S	-	NULL	ENSG00000130479		0.697	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1		0	35	0	A	NM_018174		17837647	1			no_errors	ENST00000324096	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.001	G	G	17837647	A	G	17837647	3	3	95	1	0	0	0	0	1	0	0	0	9272	304	11	4	1472	4	MAP1S	19	17837647	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	3836897	17837647	41291336	290	27469											
ZNF676	163223	genome.wustl.edu	37	chr19	22363520	22363520	+	Silent	SNP	T	T	G																															tcacatttgtagggtttctcTccagcatgaattctcttgtg																								rs548029407		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:22363520T>G	ENST00000397121.2	-	3	1316	c.999A>C	c.(997-999)ggA>ggC	p.G333G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGGTTTCTCTCCAGCATGAA	0.403																																																	0													67	73	71					19																	22363520		2168	4273	6441	SO:0001819	synonymous_variant	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.999A>C	19.37:g.22363520T>G			A8MVX5	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G333	ENST00000397121.2	37	c.999	CCDS42539.1	19																																																																																			ZNF676	-	pfscan_Znf_C2H2	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	96	0	T	NM_001001411		22363520	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	17.28	67	14	SNP	0.998	G	G	22363520	T	G	22363520	2	3	95	1	0	0	0	0	0	0	0	1	18131	1538	54	4		4	ZNF676	19	22363520	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	4525873	22363520	36765463	291	27470	101	2									
ZNF676	163223	genome.wustl.edu	37	chr19	22363526	22363526	+	Silent	SNP	A	A	G																															ttgtagggtttctctccagcAtgaattctcttgtgttcagt																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:22363526A>G	ENST00000397121.2	-	3	1310	c.993T>C	c.(991-993)caT>caC	p.H331H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTCCAGCATGAATTCTCT	0.403																																																	0													66	71	69					19																	22363526		2161	4273	6434	SO:0001819	synonymous_variant	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"Zinc fingers, C2H2-type"	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.993T>C	19.37:g.22363526A>G			A8MVX5	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H331	ENST00000397121.2	37	c.993	CCDS42539.1	19																																																																																			ZNF676	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0	102	0	A	NM_001001411		22363526	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	silent	17.28	67	14	SNP	1.000	G	G	22363526	A	G	22363526	2	3	95	1	0	0	0	0	0	0	0	1	18131	214	8	4		4	ZNF676	19	22363526	Silent	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	6	22363526	36765457	292	27471	101	2									
MAG	4099	genome.wustl.edu	37	chr19	35791232	35791232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggaggtgacccccgccGaagacggcgtctatgcctgc	7	6	15	13	4	1	2	0	1	1	1	1	5	1	4	4	4	2	0	4	4	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:35791232G>A	ENST00000392213.3	+	6	1054	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	MAG_ENST00000361922.4_Missense_Mutation_p.E299K|MAG_ENST00000537831.2_Missense_Mutation_p.E274K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	299	Ig-like C2-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GACCCCCGCCGAAGACGGCGT	0.682																																																	0													24	25	25					19																	35791232		2201	4299	6500	SO:0001583	missense	0			M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6783	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 4A"	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.895G>A	19.37:g.35791232G>A	ENSP00000376048:p.Glu299Lys		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E299K	ENST00000392213.3	37	c.895	CCDS12455.1	19	.	.	.	.	.	.	.	.	.	.	g	10.53	1.375505	0.24857	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.67698	-0.28;-0.28;-0.28	4.03	4.03	0.46877	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.425981	0.25651	N	0.029211	T	0.51058	0.1652	L	0.37697	1.125	0.23356	N	0.997845	P;P;P	0.40032	0.699;0.568;0.568	B;B;B	0.33568	0.166;0.053;0.083	T	0.52403	-0.8580	10	0.51188	T	0.08	.	9.7098	0.40238	0.0:0.2123:0.7877:0.0	.	336;299;299	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	K	336;299;299;274	ENSP00000355234:E299K;ENSP00000376048:E299K;ENSP00000440695:E274K	ENSP00000262624:E336K	E	+	1	0	MAG	40483072	0.959000	0.32827	0.856000	0.33681	0.231000	0.25187	1.950000	0.40323	2.077000	0.62373	0.298000	0.19748	GAA	MAG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105695		0.682	MAG-001	KNOWN	basic|CCDS	protein_coding	MAG	HGNC	protein_coding	OTTHUMT00000466071.1	-	0	60	0	G	NM_080600		35791232	1	tier1	-	no_errors	ENST00000392213	ensembl	human	known	74_37	missense	56.86	22	29	SNP	0.376	A	A	35791232	G	A	35791232	3	1	95	1	0	0	0	0	1	0	0	0	9198	1059	37	1	909	1	MAG	19	35791232	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	13427706	35791232	23337751	293	27472											
ZNF420	147923	genome.wustl.edu	37	chr19	37618367	37618367	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacacctaacacaacatcaAagtattcatactggtgaaaa	18	9	4	10	0	3	1	3	1	0	0	3	1	3	1	1	1	3	1	1	1	7	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:37618367A>G	ENST00000337995.3	+	5	689	c.474A>G	c.(472-474)caA>caG	p.Q158Q	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Silent_p.Q158Q	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	158					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACAACATCAAAGTATTCATA	0.408																																																	0													67	66	66					19																	37618367		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.474A>G	19.37:g.37618367A>G			B2RDY6|Q96ML5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q158	ENST00000337995.3	37	c.474	CCDS12498.1	19																																																																																			ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.408	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0	52	0	A	NM_144689		37618367	1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	silent	53.33	28	32	SNP	0.745	G	G	37618367	A	G	37618367	2	3	95	1	0	0	0	0	0	0	0	1	17945	11	1	4		4	ZNF420	19	37618367	Silent	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	1827135	37618367	21510616	294	27473			1	23		3	3	969	N	G_A	5.123799e-05
ZNF420	147923	genome.wustl.edu	37	chr19	37618622	37618622	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacttacccgacatcaaaaAgttcatactggtgagaaacc	16	8	6	11	1	2	1	2	1	0	1	2	3	2	1	2	1	4	1	2	1	6	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:37618622A>C	ENST00000337995.3	+	5	944	c.729A>C	c.(727-729)aaA>aaC	p.K243N	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Missense_Mutation_p.K243N	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACATCAAAAAGTTCATACTG	0.358																																																	0													60	65	63					19																	37618622		2203	4298	6501	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.729A>C	19.37:g.37618622A>C	ENSP00000338770:p.Lys243Asn		B2RDY6|Q96ML5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K243N	ENST00000337995.3	37	c.729	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	A	13.32	2.201561	0.38905	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	T;T	0.24723	1.84;1.84	3.98	2.69	0.31865	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27454	0.0674	L	0.38531	1.155	0.09310	N	0.999995	D	0.57571	0.98	P	0.53224	0.721	T	0.10870	-1.0611	9	0.87932	D	0	.	4.5739	0.12223	0.7813:0.0:0.2187:0.0	.	243	Q8TAQ5	ZN420_HUMAN	N	243	ENSP00000306102:K243N;ENSP00000338770:K243N	ENSP00000306102:K243N	K	+	3	2	ZNF420	42310462	0.000000	0.05858	0.997000	0.53966	0.972000	0.66771	-2.273000	0.01164	0.435000	0.26365	0.533000	0.62120	AAA	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.358	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0	61	0	A	NM_144689		37618622	1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	missense	30.38	55	24	SNP	0.223	C	C	37618622	A	C	37618622	3	2	95	1	0	0	0	0	1	0	0	0	17945	69	3	4	739	4	ZNF420	19	37618622	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	255	37618622	21510361	295	27474			1	23		3	3	969	N	G_A	5.123799e-05
ZNF420	147923	genome.wustl.edu	37	chr19	37619335	37619335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatgaatgtaaggaatgtgGgaaatcttttattcgtggtt	11	16	11	3	1	1	1	0	1	1	0	2	3	1	3	0	3	0	2	0	3	6	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:37619335G>T	ENST00000337995.3	+	5	1657	c.1442G>T	c.(1441-1443)gGg>gTg	p.G481V	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGAATGTGGGAAATCTTTT	0.393																																																	0													71	64	66					19																	37619335		2203	4300	6503	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1442G>T	19.37:g.37619335G>T	ENSP00000338770:p.Gly481Val		B2RDY6|Q96ML5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G481V	ENST00000337995.3	37	c.1442	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283645	0.40394	.	.	ENSG00000197050	ENST00000337995	T	0.07444	3.19	3.51	2.46	0.29980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36580	0.0972	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41251	-0.9519	8	.	.	.	.	9.6687	0.40000	0.1075:0.0:0.8925:0.0	.	481	Q8TAQ5	ZN420_HUMAN	V	481	ENSP00000338770:G481V	.	G	+	2	0	ZNF420	42311175	1.000000	0.71417	0.996000	0.52242	0.829000	0.46940	4.792000	0.62467	0.700000	0.31782	-0.229000	0.12294	GGG	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.393	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0	70	0	G	NM_144689		37619335	1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	missense	27.10	78	29	SNP	0.991	T	T	37619335	G	T	37619335	3	4	95	1	0	0	0	0	1	0	0	0	17945	1232	43	3	1452	3	ZNF420	19	37619335	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	713	37619335	21509648	296	27475			1	23		3	3	969	N	G_A	5.123799e-05
ZNF607	84775	genome.wustl.edu	37	chr19	38190112	38190112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccttgcattcatagggtTtttctccagtatgaattctt	8	19	6	8	0	3	1	1	1	2	0	5	1	4	1	2	1	1	3	2	1	3	9			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:38190112T>G	ENST00000355202.4	-	5	1515	c.920A>C	c.(919-921)aAa>aCa	p.K307T	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K306T	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TTCATAGGGTTTTTCTCCAGT	0.403																																																	0													93	95	94					19																	38190112		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.920A>C	19.37:g.38190112T>G	ENSP00000347338:p.Lys307Thr		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K307T	ENST00000355202.4	37	c.920	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338321	0.81911	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.24908	1.83;1.83	2.27	1.13	0.20643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50684	0.1630	M	0.88570	2.965	0.25826	N	0.984228	D;D	0.76494	0.987;0.999	D;D	0.77004	0.981;0.989	T	0.34477	-0.9827	9	0.87932	D	0	.	5.4774	0.16704	0.0:0.1777:0.0:0.8223	.	307;306	Q96SK3;F5H141	ZN607_HUMAN;.	T	307;306	ENSP00000347338:K307T;ENSP00000438015:K306T	ENSP00000347338:K307T	K	-	2	0	ZNF607	42881952	0.003000	0.15002	0.788000	0.31933	0.904000	0.53231	0.013000	0.13310	0.117000	0.18138	0.459000	0.35465	AAA	ZNF607	-	pfscan_Znf_C2H2	ENSG00000198182		0.403	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0	68	0	T	NM_032689		38190112	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	missense	59.30	35	51	SNP	1.000	G	G	38190112	T	G	38190112	3	3	95	1	0	0	0	0	1	0	0	0	18081	1841	64	4	1174	4	ZNF607	19	38190112	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	570777	38190112	20938871	297	27476											
IRGQ	126298	genome.wustl.edu	37	chr19	44096941	44096941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcgctacatttctccCttcccttactgagtgcattc	7	14	5	15	1	1	1	0	1	1	0	5	1	3	1	3	0	4	2	3	0	2	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:44096941C>T	ENST00000602269.1	-	2	1294	c.1109G>A	c.(1108-1110)aGg>aAg	p.R370K	IRGQ_ENST00000422989.1_Missense_Mutation_p.R370K|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	370	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACATTTCTCCCTTCCCTTACT	0.557																																																	0													233	230	231					19																	44096941		2203	4300	6503	SO:0001583	missense	0			AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"immunity-related GTPase family, Q1"	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1109G>A	19.37:g.44096941C>T	ENSP00000472250:p.Arg370Lys		B2RNP3	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R370K	ENST00000602269.1	37	c.1109	CCDS33040.1	19	.	.	.	.	.	.	.	.	.	.	C	5.238	0.229393	0.09916	.	.	ENSG00000167378	ENST00000422989	T	0.47177	0.85	4.04	-2.2	0.06994	.	1.613180	0.03837	N	0.270043	T	0.25791	0.0628	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18650	-1.0330	10	0.59425	D	0.04	-27.4693	0.6829	0.00878	0.1709:0.3603:0.1668:0.302	.	370	Q8WZA9	IRGQ_HUMAN	K	370	ENSP00000387535:R370K	ENSP00000387535:R370K	R	-	2	0	IRGQ	48788781	0.001000	0.12720	0.000000	0.03702	0.063000	0.16089	0.151000	0.16283	-0.239000	0.09710	-0.136000	0.14681	AGG	IRGQ	-	NULL	ENSG00000167378		0.557	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGQ	HGNC	protein_coding	OTTHUMT00000463205.1	-	0	46	0	C	NM_001007561		44096941	-1	tier1	-	no_errors	ENST00000422989	ensembl	human	known	74_37	missense	12.77	82	12	SNP	0.000	T	T	44096941	C	T	44096941	3	4	95	1	0	0	0	0	1	0	0	0	7866	681	24	3	766	3	IRGQ	19	44096941	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	5906829	44096941	15032042	298	27477											
ZNF155	7711	genome.wustl.edu	37	chr19	44501597	44501597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgcttgaatctggatataCttttatcattatttctaaat	11	18	6	6	1	3	1	1	1	2	0	3	2	3	2	0	2	1	1	0	2	7	8			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:44501597C>T	ENST00000270014.2	+	5	1716	c.1588C>T	c.(1588-1590)Ctt>Ttt	p.L530F	ZNF155_ENST00000407951.2_Missense_Mutation_p.L541F|RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.L530F	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	530					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCTGGATATACTTTTATCAtt	0.383																																					NSCLC(61;554 1277 20909 42067 42312)												0													46	47	47					19																	44501597		2203	4300	6503	SO:0001583	missense	0			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"Zinc fingers, C2H2-type", "-"	12940	protein-coding gene	gene with protein product		604086	"zinc finger protein 155 (pHZ-96)"			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1588C>T	19.37:g.44501597C>T	ENSP00000270014:p.Leu530Phe		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L530F	ENST00000270014.2	37	c.1588	CCDS12634.1	19	.	.	.	.	.	.	.	.	.	.	C	2.126	-0.400371	0.04865	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.05786	3.41;3.39	1.05	-2.11	0.07187	.	.	.	.	.	T	0.03477	0.0100	L	0.27053	0.805	0.09310	N	1	P;B	0.35844	0.524;0.017	B;B	0.21917	0.037;0.002	T	0.35400	-0.9790	9	0.87932	D	0	.	5.6866	0.17807	0.4223:0.5777:0.0:0.0	.	541;530	B4DM95;Q12901	.;ZN155_HUMAN	F	541;530	ENSP00000385163:L541F;ENSP00000270014:L530F	ENSP00000270014:L530F	L	+	1	0	ZNF155	49193437	0.238000	0.23825	0.024000	0.17045	0.018000	0.09664	0.126000	0.15769	-0.514000	0.06488	-0.521000	0.04368	CTT	ZNF155	-	NULL	ENSG00000204920		0.383	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF155	HGNC	protein_coding	OTTHUMT00000460074.1	-	0	42	0	C	NM_003445		44501597	1	tier1	-	no_errors	ENST00000270014	ensembl	human	known	74_37	missense	25.58	32	11	SNP	0.002	T	T	44501597	C	T	44501597	3	4	95	1	0	0	0	0	1	0	0	0	17784	565	20	3	1602	3	ZNF155	19	44501597	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	404656	44501597	14627386	299	27478											
GPR4	2828	genome.wustl.edu	37	chr19	46095041	46095041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtgggcagccccacgccGatgacaaagatgtagaggga	11	6	15	9	2	0	3	0	1	0	2	0	5	0	4	3	3	1	2	3	3	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:46095041G>A	ENST00000323040.4	-	2	1028	c.84C>T	c.(82-84)atC>atT	p.I28I	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	28					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I28I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCCCCACGCCGATGACAAAGA	0.642																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												1	Substitution - coding silent(1)	prostate(1)											55	45	48					19																	46095041		2203	4300	6503	SO:0001819	synonymous_variant	0			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"GPCR / Class A : Orphans"	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.84C>T	19.37:g.46095041G>A			A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.I28	ENST00000323040.4	37	c.84	CCDS12669.1	19																																																																																			GPR4	-	prints_GPCR_Rhodpsn	ENSG00000177464		0.642	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR4	HGNC	protein_coding	OTTHUMT00000459603.1	-	0	43	0	G	NM_005282		46095041	-1	tier1	-	no_errors	ENST00000323040	ensembl	human	known	74_37	silent	21.88	50	14	SNP	1.000	A	A	46095041	G	A	46095041	2	1	95	1	0	0	0	0	0	0	0	1	6720	1048	37	1		1	GPR4	19	46095041	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1593444	46095041	13033942	300	27479											
DHX34	9704	genome.wustl.edu	37	chr19	47861291	47861291	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagatcagcgccgtgctgGaggctgcccagacctatgcc	7	6	14	14	3	1	2	1	0	0	2	1	4	1	3	4	3	4	2	4	3	1	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:47861291G>T	ENST00000328771.4	+	4	1535	c.1186G>T	c.(1186-1188)Gag>Tag	p.E396*	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	396	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCCGTGCTGGAGGCTGCCCA	0.647																																																	0													42	35	37					19																	47861291		2203	4300	6503	SO:0001587	stop_gained	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1186G>T	19.37:g.47861291G>T	ENSP00000331907:p.Glu396*		B4DMY8	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E396*	ENST00000328771.4	37	c.1186	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.138452	0.98672	.	.	ENSG00000134815	ENST00000328771	.	.	.	5.28	4.25	0.50352	.	0.328474	0.24238	N	0.040295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.3632	13.124	0.59342	0.0798:0.0:0.9202:0.0	.	.	.	.	X	396	.	ENSP00000331907:E396X	E	+	1	0	DHX34	52553129	1.000000	0.71417	0.996000	0.52242	0.016000	0.09150	7.462000	0.80851	1.220000	0.43490	-0.232000	0.12228	GAG	DHX34	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000134815		0.647	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3		0	46	0	G	NM_014681		47861291	1			no_errors	ENST00000328771	ensembl	human	known	74_37	nonsense	5.26	54	3	SNP	1.000	T	T	47861291	G	T	47861291	4	4	95	1	0	0	0	0	0	1	0	0	4521	1175	41	3	1196	3	DHX34	19	47861291	Nonsense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1766250	47861291	11267692	301	27480											
CCDC114	93233	genome.wustl.edu	37	chr19	48821779	48821779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctggttctgggctgcGctgatctgcacctggagatc	5	12	13	11	1	2	3	0	2	2	1	3	4	2	3	2	3	2	4	2	3	0	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:48821779G>A	ENST00000315396.7	-	3	796	c.114C>T	c.(112-114)agC>agT	p.S38S	CCDC114_ENST00000497803.1_5'UTR	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	38					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTGGGCTGCGCTGATCTGCA	0.662																																																	0													28	30	30					19																	48821779		692	1591	2283	SO:0001819	synonymous_variant	0			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.114C>T	19.37:g.48821779G>A			Q6ZRL4|Q96M06|Q9UFG8	Silent	SNP	NULL	p.S38	ENST00000315396.7	37	c.114	CCDS12714.2	19																																																																																			CCDC114	-	NULL	ENSG00000105479		0.662	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	-	0	46	0	G	NM_144577		48821779	-1	tier1	-	no_errors	ENST00000315396	ensembl	human	known	74_37	silent	19.72	57	14	SNP	0.000	A	A	48821779	G	A	48821779	2	1	95	1	0	0	0	0	0	0	0	1	2758	1078	38	1		1	CCDC114	19	48821779	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	960488	48821779	10307204	302	27481											
IZUMO1	284359	genome.wustl.edu	37	chr19	49244206	49244206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttttcttttgggacctGggtttgctcggccgctccac	2	14	12	13	2	1	0	0	0	1	0	3	1	2	1	4	4	1	3	4	4	0	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:49244206G>T	ENST00000332955.2	-	10	1559	c.1012C>A	c.(1012-1014)Cag>Aag	p.Q338K	RASIP1_ENST00000222145.4_5'Flank|RASIP1_ENST00000594232.1_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	338					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTGGGACCTGGGTTTGCTCG	0.512																																																	0													107	93	98					19																	49244206		2203	4300	6503	SO:0001583	missense	0			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"-"	28539	protein-coding gene	gene with protein product	"oocyte binding/fusion factor"	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.1012C>A	19.37:g.49244206G>T	ENSP00000327786:p.Gln338Lys		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	NULL	p.Q338K	ENST00000332955.2	37	c.1012	CCDS12732.1	19	.	.	.	.	.	.	.	.	.	.	G	11.69	1.712677	0.30413	.	.	ENSG00000182264	ENST00000332955	T	0.23348	1.91	3.15	-3.87	0.04218	.	2.886840	0.01140	N	0.006191	T	0.14700	0.0355	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.08848	-1.0702	10	0.22706	T	0.39	0.1936	0.2822	0.00246	0.253:0.2847:0.2316:0.2307	.	338	Q8IYV9	IZUM1_HUMAN	K	338	ENSP00000327786:Q338K	ENSP00000327786:Q338K	Q	-	1	0	IZUMO1	53936018	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-1.382000	0.02546	-0.839000	0.04212	0.655000	0.94253	CAG	IZUMO1	-	NULL	ENSG00000182264		0.512	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IZUMO1	HGNC	protein_coding	OTTHUMT00000466189.1	-	0	59	0	G	NM_182575		49244206	-1	tier1	-	no_errors	ENST00000332955	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.000	T	T	49244206	G	T	49244206	3	4	95	1	0	0	0	0	1	0	0	0	7960	1357	47	3	44	3	IZUMO1	19	49244206	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	422427	49244206	9884777	303	27482											
SIGLEC14	100049587	genome.wustl.edu	37	chr19	52147165	52147165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaggtctgggaaggattGagggcttttccctcccggaa	8	11	14	8	1	1	2	0	2	1	0	3	5	3	5	2	5	0	1	2	5	2	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:52147165G>T	ENST00000360844.6	-	5	920	c.879C>A	c.(877-879)ctC>ctA	p.L293L	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	293	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGGAAGGATTGAGGGCTTTTC	0.612																																																	0													42	48	46					19																	52147165		1858	4046	5904	SO:0001819	synonymous_variant	0			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.879C>A	19.37:g.52147165G>T			Q6UXG0	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L293	ENST00000360844.6	37	c.879	CCDS42604.1	19																																																																																			SIGLEC14	-	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000254415		0.612	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	HGNC	protein_coding	OTTHUMT00000466899.2	-	0	46	0	G	NM_001098612		52147165	-1	tier1	-	no_errors	ENST00000360844	ensembl	human	known	74_37	silent	17.33	62	13	SNP	0.010	T	T	52147165	G	T	52147165	2	4	95	1	0	0	0	0	0	0	0	1	14354	1277	45	3		3	SIGLEC14	19	52147165	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	2902959	52147165	6981818	304	27483											
NLRP11	204801	genome.wustl.edu	37	chr19	56320173	56320173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggctctttgttttgaaaGatgcgctgaacactcaactt	10	14	9	8	1	2	3	1	2	1	1	2	3	2	3	0	1	3	3	0	1	3	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:56320173G>A	ENST00000589093.1	-	3	1896	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	NLRP11_ENST00000589824.2_Silent_p.I601I|NLRP11_ENST00000443188.1_Silent_p.I601I|NLRP11_ENST00000360133.3_Silent_p.I601I|NLRP11_ENST00000592953.1_Silent_p.I502I			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	601							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGTTTTGAAAGATGCGCTGAA	0.398																																																	0													125	118	120					19																	56320173		2203	4300	6503	SO:0001819	synonymous_variant	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1803C>T	19.37:g.56320173G>A			C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.I601	ENST00000589093.1	37	c.1803	CCDS12935.1	19																																																																																			NLRP11	-	NULL	ENSG00000179873		0.398	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	-	0	55	0	G	NM_145007		56320173	-1	tier1	-	no_errors	ENST00000443188	ensembl	human	known	74_37	silent	27.50	57	22	SNP	0.016	A	A	56320173	G	A	56320173	2	1	95	1	0	0	0	0	0	0	0	1	10512	932	33	3		3	NLRP11	19	56320173	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	4173008	56320173	2808810	305	27484											
NLRP8	126205	genome.wustl.edu	37	chr19	56466632	56466632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtttgctggatggtctGctctggtctgaaacagcaaa	8	13	13	7	0	3	1	0	1	3	0	3	2	3	2	0	4	4	4	0	4	2	1			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:56466632G>T	ENST00000291971.3	+	3	1279	c.1208G>T	c.(1207-1209)tGc>tTc	p.C403F	NLRP8_ENST00000590542.1_Missense_Mutation_p.C403F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.C403Y(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGATGGTCTGCTCTGGTCTG	0.493																																																	1	Substitution - Missense(1)	central_nervous_system(1)											80	80	80					19																	56466632		2203	4300	6503	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1208G>T	19.37:g.56466632G>T	ENSP00000291971:p.Cys403Phe		Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.C403F	ENST00000291971.3	37	c.1208	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513082	0.27123	.	.	ENSG00000179709	ENST00000291971	D	0.83755	-1.76	1.78	1.78	0.24846	.	.	.	.	.	D	0.90273	0.6958	M	0.86864	2.845	0.09310	N	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.671;0.996	T	0.78314	-0.2252	9	0.87932	D	0	.	7.0626	0.25133	0.0:0.0:1.0:0.0	.	403;403	Q86W28-2;Q86W28	.;NALP8_HUMAN	F	403	ENSP00000291971:C403F	ENSP00000291971:C403F	C	+	2	0	NLRP8	61158444	0.778000	0.28640	0.022000	0.16811	0.082000	0.17680	2.713000	0.47194	1.311000	0.45024	0.514000	0.50259	TGC	NLRP8	-	NULL	ENSG00000179709		0.493	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	-	0	53	0	G	NM_176811		56466632	1	tier1	-	no_errors	ENST00000291971	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.108	T	T	56466632	G	T	56466632	3	4	95	1	0	0	0	0	1	0	0	0	10522	1319	46	3	1218	3	NLRP8	19	56466632	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	146459	56466632	2662351	306	27485											
PEG3	5178	genome.wustl.edu	37	chr19	57325232	57325232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgatcatgctggcatgAgttttcaggtgttcactgaa	11	14	10	6	0	3	3	3	3	0	0	3	3	3	3	0	2	1	4	0	2	3	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:57325232A>G	ENST00000326441.9	-	10	4941	c.4578T>C	c.(4576-4578)acT>acC	p.T1526T	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.T1526T|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000593695.1_Silent_p.T1400T|PEG3_ENST00000598410.1_Silent_p.T1402T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1526					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGCTGGCATGAGTTTTCAGGT	0.483																																																	0													165	148	153					19																	57325232		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"Zinc fingers, C2H2-type", "-", "-", "-"	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4578T>C	19.37:g.57325232A>G			A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T1526	ENST00000326441.9	37	c.4578	CCDS12948.1	19																																																																																			PEG3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0	68	0	A			57325232	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	silent	33.75	53	27	SNP	0.009	G	G	57325232	A	G	57325232	2	3	95	1	0	0	0	0	0	0	0	1	11759	291	11	4		4	PEG3	19	57325232	Silent	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	858600	57325232	1803751	307	27486											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58551837	58551837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctggtatctctggactcGgtcgaaccccaggactggag	7	10	13	11	2	2	0	0	0	2	0	5	4	2	3	2	5	1	2	2	5	2	2	rs143428215		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:58551837G>A	ENST00000282326.1	+	4	637	c.390G>A	c.(388-390)tcG>tcA	p.S130S		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	130					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCTGGACTCGGTCGAACCCC	0.612																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	115	126	122		390	-1.6	0.1	19	dbSNP_134	122	0,8600		0,0,4300	no	coding-synonymous	ZSCAN1	NM_182572.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		130/409	58551837	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.390G>A	19.37:g.58551837G>A			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S130	ENST00000282326.1	37	c.390	CCDS12969.1	19																																																																																			ZSCAN1	-	smart_Tscrpt_reg_SCAN	ENSG00000152467		0.612	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0	73	0	G	NM_182572		58551837	1	tier1	rs143428215	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	19.82	89	22	SNP	0.088	A	A	58551837	G	A	58551837	2	1	95	1	0	0	0	0	0	0	0	1	18274	1103	39	1		1	ZSCAN1	19	58551837	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1226605	58551837	577146	308	27487											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58565407	58565407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagctccacacggcccaCggccacatgtgaatggccag	11	4	11	15	2	0	2	0	1	0	1	1	2	1	2	4	3	1	1	4	3	2	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr19:58565407C>T	ENST00000282326.1	+	6	1462	c.1215C>T	c.(1213-1215)caC>caT	p.H405H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	405					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACACGGCCCACGGCCACATGT	0.677																																																	0													18	19	18					19																	58565407		2196	4297	6493	SO:0001819	synonymous_variant	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1215C>T	19.37:g.58565407C>T			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H405	ENST00000282326.1	37	c.1215	CCDS12969.1	19																																																																																			ZSCAN1	-	pfscan_Znf_C2H2	ENSG00000152467		0.677	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0	44	0	C	NM_182572		58565407	1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	26.42	39	14	SNP	0.022	T	T	58565407	C	T	58565407	2	4	95	1	0	0	0	0	0	0	0	1	18274	535	19	1		1	ZSCAN1	19	58565407	Silent	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	13570	58565407	563576	309	27488											
ATRN	8455	genome.wustl.edu	37	chr20	3541331	3541331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaatttacatgtatggagGaaaaattgattcaactggga	17	12	9	3	0	1	1	1	1	0	0	1	4	1	4	0	3	2	1	0	3	7	6			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:3541331G>T	ENST00000262919.5	+	8	1294	c.1226G>T	c.(1225-1227)gGa>gTa	p.G409V	ATRN_ENST00000446916.2_Missense_Mutation_p.G409V	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	409					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						ATGTATGGAGGAAAAATTGAT	0.328																																																	0													92	82	85					20																	3541331		2203	4300	6503	SO:0001583	missense	0			AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"mahogany protein"	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.1226G>T	20.37:g.3541331G>T	ENSP00000262919:p.Gly409Val		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.G409V	ENST00000262919.5	37	c.1226	CCDS13053.1	20	.	.	.	.	.	.	.	.	.	.	G	23.9	4.464987	0.84425	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	D;D	0.95622	-1.87;-3.76	5.1	5.1	0.69264	Kelch-type beta propeller (1);	0.113202	0.64402	D	0.000010	D	0.98432	0.9478	H	0.94345	3.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99457	1.0942	10	0.87932	D	0	-10.2139	18.2867	0.90117	0.0:0.0:1.0:0.0	.	409;409	O75882;O75882-2	ATRN_HUMAN;.	V	409;409;335	ENSP00000262919:G409V;ENSP00000416587:G409V	ENSP00000262919:G409V	G	+	2	0	ATRN	3489331	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.616000	0.98359	2.650000	0.89964	0.555000	0.69702	GGA	ATRN	-	NULL	ENSG00000088812		0.328	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRN	HGNC	protein_coding	OTTHUMT00000077740.2	-	0	55	0	G	NM_139321		3541331	1	tier1	-	no_errors	ENST00000262919	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	3541331	G	T	3541331	3	4	95	1	0	0	0	0	1	0	0	0	1207	1174	41	3	1256	3	ATRN	20	3541331	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		3541331	59484189	310	27489											
C20orf26	26074	genome.wustl.edu	37	chr20	20180504	20180504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtctatcctctggaaaaGcttggcataaacgctccatc	11	12	7	11	1	2	0	0	0	2	0	5	1	4	1	2	2	2	3	2	2	5	4			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:20180504G>T	ENST00000245957.5	+	17	1966	c.1890G>T	c.(1888-1890)aaG>aaT	p.K630N	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		630										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCTGGAAAAGCTTGGCATAA	0.607																																																	0													139	125	130					20																	20180504		2203	4300	6503	SO:0001583	missense	0																														ENST00000245957.5:c.1890G>T	20.37:g.20180504G>T	ENSP00000245957:p.Lys630Asn		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.K630N	ENST00000245957.5	37	c.1890	CCDS33447.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.55|14.55	2.568445|2.568445	0.45798|0.45798	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957|ENST00000431753	T|.	0.48836|.	0.8|.	5.57|5.57	4.6|4.6	0.57074|0.57074	.|.	0.193168|.	0.45361|.	N|.	0.000364|.	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	B;B|.	0.26445|.	0.149;0.01|.	B;B|.	0.29440|.	0.102;0.016|.	T|T	0.51466|0.51466	-0.8702|-0.8702	10|5	0.29301|.	T|.	0.29|.	.|.	8.4432|8.4432	0.32826|0.32826	0.1171:0.0:0.7453:0.1376|0.1171:0.0:0.7453:0.1376	.|.	610;630|.	F8W6K4;Q8NHU2|.	.;CT026_HUMAN|.	N|I	570;198;610;630|170	ENSP00000245957:K630N|.	ENSP00000245957:K630N|.	K|S	+|+	3|2	2|0	C20orf26|C20orf26	20128504|20128504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.296000|4.296000	0.59055|0.59055	1.296000|1.296000	0.44742|0.44742	0.563000|0.563000	0.77884|0.77884	AAG|AGC	C20orf26	-	NULL	ENSG00000089101		0.607	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	-	0	34	0	G			20180504	1	tier1	-	no_errors	ENST00000245957	ensembl	human	known	74_37	missense	54.76	19	23	SNP	1.000	T	T	20180504	G	T	20180504	3	4	95	1	0	0	0	0	1	0	0	0	2113	962	34	3	1984	3	C20orf26	20	20180504	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	16639173	20180504	42845016	311	27490											
NKX2-2	4821	genome.wustl.edu	37	chr20	21492909	21492909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggctggccaggtgttcGcgctcgggcgccgacaggta	6	7	17	11	5	0	1	0	1	0	0	2	2	0	1	2	5	0	4	2	5	1	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:21492909G>A	ENST00000377142.4	-	2	830	c.474C>T	c.(472-474)cgC>cgT	p.R158R	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	158					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAGGTGTTCGCGCTCGGGCG	0.647																																																	0													30	32	32					20																	21492909		2202	4300	6502	SO:0001819	synonymous_variant	0			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"Homeoboxes / ANTP class : NKL subclass"	7835	protein-coding gene	gene with protein product		604612	"NK-2 (Drosophila) homolog B", "NK2 transcription factor related, locus 2 (Drosophila)"	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.474C>T	20.37:g.21492909G>A				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R158	ENST00000377142.4	37	c.474	CCDS13145.1	20																																																																																			NKX2-2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	ENSG00000125820		0.647	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	-	0	134	0	G			21492909	-1	tier1	-	no_errors	ENST00000377142	ensembl	human	known	74_37	silent	48.03	79	73	SNP	1.000	A	A	21492909	G	A	21492909	2	1	95	1	0	0	0	0	0	0	0	1	10489	1074	38	1		1	NKX2-2	20	21492909	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	1312405	21492909	41532611	312	27491											
PAX1	5075	genome.wustl.edu	37	chr20	21686355	21686355	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttctcccaatcggatgaAgttcaccctgggcctggggt	8	11	11	11	1	2	1	1	1	1	0	4	2	2	2	3	4	0	1	3	4	3	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:21686355A>C	ENST00000398485.2	+	1	59	c.5A>C	c.(4-6)aAg>aCg	p.K2T	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_5'Flank	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	2					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AATCGGATGAAGTTCACCCTG	0.682																																																	0													20	19	19					20																	21686355		692	1591	2283	SO:0001583	missense	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"Paired boxes"	8615	protein-coding gene	gene with protein product		167411	"paired box gene 1"			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.5A>C	20.37:g.21686355A>C	ENSP00000381499:p.Lys2Thr		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.K2T	ENST00000398485.2	37	c.5	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	A	17.65	3.443244	0.63067	.	.	ENSG00000125813	ENST00000398485	D	0.97850	-4.57	4.47	4.47	0.54385	.	.	.	.	.	D	0.95076	0.8405	N	0.14661	0.345	0.80722	D	1	D	0.58620	0.983	P	0.50314	0.637	D	0.95309	0.8410	9	0.87932	D	0	.	11.6835	0.51472	1.0:0.0:0.0:0.0	.	2	P15863	PAX1_HUMAN	T	2	ENSP00000381499:K2T	ENSP00000381499:K2T	K	+	2	0	PAX1	21634355	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.595000	0.54016	1.649000	0.50652	0.155000	0.16302	AAG	PAX1	-	NULL	ENSG00000125813		0.682	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0	91	0	A			21686355	1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	missense	25.00	66	22	SNP	1.000	C	C	21686355	A	C	21686355	3	2	95	1	0	0	0	0	1	0	0	0	11517	72	3	4	7	4	PAX1	20	21686355	Missense_Mutation	SNP	A	TCGA-L5-A8NW-01A-11D-A37C-09	193446	21686355	41339165	313	27492											
AHCY	191	genome.wustl.edu	37	chr20	32868859	32868859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtagcggtagtgatccGgcttgaaggggccatcacag	9	8	14	10	2	2	2	2	2	0	0	3	2	3	2	2	4	1	3	2	4	3	3	rs377090568		TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:32868859G>A	ENST00000217426.2	-	10	1357	c.1280C>T	c.(1279-1281)cCg>cTg	p.P427L	AHCY_ENST00000538132.1_Missense_Mutation_p.P399L|RP4-785G19.5_ENST00000512005.1_RNA|CTD-3216D2.5_ENST00000609218.1_RNA	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	427					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTAGTGATCCGGCTTGAAGGG	0.582													G|||	1	0.000199681	8e-04	0	5008	,	,		20290	0		0	False		,,,				2504	0																0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	62	51	55		1280,1196	4.8	1	20		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AHCY	NM_000687.2,NM_001161766.1	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	427/433,399/405	32868859	1,13005	2203	4300	6503	SO:0001583	missense	0			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"S-adenosylhomocysteine hydrolase"			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1280C>T	20.37:g.32868859G>A	ENSP00000217426:p.Pro427Leu		A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.P427L	ENST00000217426.2	37	c.1280	CCDS13233.1	20	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626149	0.66901	0.0	1.16E-4	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.77620	-1.11;-1.11	4.8	4.8	0.61643	.	0.099681	0.64402	D	0.000001	T	0.80654	0.4664	M	0.83223	2.63	0.80722	D	1	B	0.33477	0.413	B	0.32583	0.148	T	0.83115	-0.0121	10	0.62326	D	0.03	.	18.4153	0.90567	0.0:0.0:1.0:0.0	.	427	P23526	SAHH_HUMAN	L	427;399	ENSP00000217426:P427L;ENSP00000442820:P399L	ENSP00000217426:P427L	P	-	2	0	AHCY	32332520	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.579000	0.98204	2.670000	0.90874	0.655000	0.94253	CCG	AHCY	-	pfam_Adenosylhomocysteinase	ENSG00000101444		0.582	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCY	HGNC	protein_coding	OTTHUMT00000078773.2	-	0	31	0	G	NM_000687		32868859	-1	tier1	-	no_errors	ENST00000217426	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	A	A	32868859	G	A	32868859	3	1	95	1	0	0	0	0	1	0	0	0	409	1116	39	1	22	1	AHCY	20	32868859	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	11182504	32868859	30156661	314	27493											
UQCC	55245	genome.wustl.edu	37	chr20	33891796	33891796	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggatgctctgaggattcTtctccactagagggcgccag	8	10	12	11	1	4	2	1	1	3	1	5	4	4	4	2	3	1	1	2	3	1	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:33891796T>G	ENST00000374385.5	-	10	1019	c.842A>C	c.(841-843)aAg>aCg	p.K281T	UQCC1_ENST00000349714.5_Missense_Mutation_p.K254T|UQCC1_ENST00000374384.2_Missense_Mutation_p.K255T|UQCC1_ENST00000359226.2_Missense_Mutation_p.K201T|UQCC1_ENST00000407996.2_Missense_Mutation_p.K144T|UQCC1_ENST00000374380.2_Missense_Mutation_p.K213T|UQCC1_ENST00000540457.1_Missense_Mutation_p.K126T|UQCC1_ENST00000397556.3_Missense_Mutation_p.K182T|UQCC1_ENST00000374377.5_Missense_Mutation_p.K169T	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	281						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											CTGAGGATTCTTCTCCACTAG	0.607											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													121	112	115					20																	33891796		2203	4300	6503	SO:0001583	missense	0			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.842A>C	20.37:g.33891796T>G	ENSP00000363506:p.Lys281Thr	843	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	pfam_Ubiq_cyt_c_chap/UPF0174	p.K281T	ENST00000374385.5	37	c.842	CCDS13252.1	20	.	.	.	.	.	.	.	.	.	.	T	16.36	3.102659	0.56183	.	.	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374380;ENST00000374385;ENST00000374377;ENST00000397556;ENST00000407996;ENST00000540457;ENST00000424405	T;T;T;T;T;T	0.52295	1.49;1.48;1.46;1.41;0.88;0.67	4.99	4.99	0.66335	.	0.246048	0.39407	N	0.001377	T	0.50973	0.1647	L	0.38175	1.15	0.80722	D	1	B;B;D;B;B;B;P;B	0.76494	0.047;0.138;0.999;0.022;0.014;0.026;0.568;0.205	B;B;D;B;B;B;B;B	0.80764	0.029;0.05;0.994;0.015;0.003;0.023;0.338;0.021	T	0.45469	-0.9259	10	0.10377	T	0.69	-25.7738	8.6314	0.33922	0.0:0.0937:0.0:0.9063	.	213;144;255;166;182;254;281;94	B1AKV5;B7Z7J8;B7ZBG3;Q9NVA1-3;B7Z314;B7ZBG4;Q9NVA1;Q7Z3P9	.;.;.;.;.;.;UQCC_HUMAN;.	T	254;201;255;213;281;169;182;144;126;249	ENSP00000335364:K254T;ENSP00000352161:K201T;ENSP00000363505:K255T;ENSP00000363506:K281T;ENSP00000386064:K144T;ENSP00000399713:K249T	ENSP00000335364:K254T	K	-	2	0	UQCC	33355210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.243000	0.43115	2.239000	0.73571	0.533000	0.62120	AAG	UQCC1	-	NULL	ENSG00000101019		0.607	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC1	HGNC	protein_coding	OTTHUMT00000078866.1	-	0	58	0	T	NM_018244		33891796	-1	tier1	-	no_errors	ENST00000374385	ensembl	human	known	74_37	missense	11.96	81	11	SNP	1.000	G	G	33891796	T	G	33891796	3	3	95	1	0	0	0	0	1	0	0	0	17064	1609	56	4	61	4	UQCC	20	33891796	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	1022937	33891796	29133724	315	27494											
TH1L	51497	genome.wustl.edu	37	chr20	57564950	57564950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagcacacgtacctgtttgCccaggccatgatgtccgtgc	7	9	12	13	2	0	1	0	1	0	0	1	2	1	2	4	2	4	3	4	2	1	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr20:57564950C>T	ENST00000344018.3	+	7	749	c.722C>T	c.(721-723)gCc>gTc	p.A241V	NELFCD_ENST00000602795.1_Missense_Mutation_p.A250V			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	241					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TACCTGTTTGCCCAGGCCATG	0.627																																																	0													69	57	61					20																	57564950		2203	4300	6503	SO:0001583	missense	0			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"trihydrophobin 1"	605297	"TH1-like (Drosophila homolog)", "TH1-like (Drosophila)"	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.722C>T	20.37:g.57564950C>T	ENSP00000342300:p.Ala241Val		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.A250V	ENST00000344018.3	37	c.749		20	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887222	0.91814	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	L	0.43923	1.385	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.983	T	0.75033	-0.3460	9	0.66056	D	0.02	-30.3248	18.0843	0.89453	0.0:1.0:0.0:0.0	.	250;241	E1P5H4;Q8IXH7	.;NELFD_HUMAN	V	241	.	ENSP00000342300:A241V	A	+	2	0	TH1L	56998345	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.396000	0.79891	2.717000	0.92951	0.655000	0.94253	GCC	NELFCD	-	pfam_TH1	ENSG00000101158		0.627	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	NELFCD	HGNC	protein_coding		-	0	38	0	C	NM_198976		57564950	1	tier1	-	no_errors	ENST00000602795	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	57564950	C	T	57564950	3	4	95	1	0	0	0	0	1	0	0	0	15886	739	26	3	748	3	TH1L	20	57564950	Missense_Mutation	SNP	C	TCGA-L5-A8NW-01A-11D-A37C-09	23673154	57564950	5460570	316	27495											
BACH1	571	genome.wustl.edu	37	chr21	30698924	30698924	+	Frame_Shift_Del	DEL	A	A	-																															tcagccaaatgaaaggtctgAaaatgaatgcctgggaggag																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr21:30698924delA	ENST00000399921.1	+	3	1022	c.779delA	c.(778-780)gaafs	p.E260fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.E260fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GAAAGGTCTGAAAATGAATGC	0.408																																																	0													44	46	45					21																	30698924		2203	4300	6503	SO:0001589	frameshift_variant	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.779delA	21.37:g.30698924delA	ENSP00000382805:p.Glu260fs		Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.N261fs	ENST00000399921.1	37	c.779	CCDS13585.1	21																																																																																			BACH1	-	NULL	ENSG00000156273		0.408	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	HGNC	protein_coding	OTTHUMT00000171974.1		0	33	0	A	NM_206866		30698924	1	tier1		no_errors	ENST00000286800	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.056	-	-	30698924	A	-	30698924	7	5	95	1	0	1	0	1	0	0	0	0	1284	246	9	0	785	0	BACH1	21	30698924	Frame_Shift_Del	DEL	A	TCGA-L5-A8NW-01A-11D-A37C-09		30698924	17430971	317	27496											
CLDN17	26285	genome.wustl.edu	37	chr21	31538467	31538467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccagctctcgtttctGacctatgtggatggctgggt	4	14	12	11	1	2	1	0	1	2	0	4	2	3	2	2	3	2	4	2	3	1	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr21:31538467G>T	ENST00000286808.3	-	1	504	c.469C>A	c.(469-471)Cag>Aag	p.Q157K		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	157					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TCTCGTTTCTGACCTATGTGG	0.517																																																	0													77	74	75					21																	31538467		2203	4300	6503	SO:0001583	missense	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"Claudins"	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.469C>A	21.37:g.31538467G>T	ENSP00000286808:p.Gln157Lys		Q3MJB5|Q6UY37	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.Q157K	ENST00000286808.3	37	c.469	CCDS13586.1	21	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268853	0.59540	.	.	ENSG00000156282	ENST00000286808	D	0.88586	-2.4	4.63	4.63	0.57726	.	0.060432	0.64402	D	0.000002	D	0.91858	0.7423	M	0.84326	2.69	0.58432	D	0.999998	B	0.31026	0.304	B	0.40982	0.345	D	0.90493	0.4468	10	0.39692	T	0.17	.	18.4009	0.90515	0.0:0.0:1.0:0.0	.	157	P56750	CLD17_HUMAN	K	157	ENSP00000286808:Q157K	ENSP00000286808:Q157K	Q	-	1	0	CLDN17	30460338	1.000000	0.71417	0.985000	0.45067	0.540000	0.34992	6.342000	0.72982	2.865000	0.98341	0.655000	0.94253	CAG	CLDN17	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000156282		0.517	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	-	0	30	0	G	NM_012131		31538467	-1	tier1	-	no_errors	ENST00000286808	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T	T	31538467	G	T	31538467	3	4	95	1	0	0	0	0	1	0	0	0	3485	1299	45	3	209	3	CLDN17	21	31538467	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	839543	31538467	16591428	318	27497											
KCNJ6	3763	genome.wustl.edu	37	chr21	39086663	39086663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacagacggtcatcccccGtgtaataccctacgttgata	12	9	8	12	3	1	2	1	1	0	1	2	3	2	2	3	1	3	2	3	1	5	5			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr21:39086663G>A	ENST00000609713.1	-	3	1386	c.797C>T	c.(796-798)aCg>aTg	p.T266M	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.T266M	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	266					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCATCCCCCGTGTAATACCC	0.507																																					Pancreas(48;379 1118 2936 19024 28214)												0													127	130	129					21																	39086663		1928	4147	6075	SO:0001583	missense	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.797C>T	21.37:g.39086663G>A	ENSP00000477437:p.Thr266Met		Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.T266M	ENST00000609713.1	37	c.797	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525713	0.85600	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.91792	-2.91;-2.91	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95956	0.8958	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	266	P48051	IRK6_HUMAN	M	266	ENSP00000383330:T266M;ENSP00000288309:T266M	ENSP00000288309:T266M	T	-	2	0	KCNJ6	38008533	1.000000	0.71417	0.980000	0.43619	0.964000	0.63967	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	ACG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000157542		0.507	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	-	0	80	0	G	NM_002240		39086663	-1	tier1	-	no_errors	ENST00000288309	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	A	A	39086663	G	A	39086663	3	1	95	1	0	0	0	0	1	0	0	0	8082	1145	40	1	482	1	KCNJ6	21	39086663	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	7548196	39086663	9043232	319	27498											
SBF1	6305	genome.wustl.edu	37	chr22	50894818	50894818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcagggggtctgaccGcacaccctgaaaagaatccg	10	6	12	13	2	1	3	0	2	1	1	2	3	2	3	3	2	2	3	3	2	3	0			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr22:50894818G>A	ENST00000390679.3	-	30	4199	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	SBF1_ENST00000380817.3_Missense_Mutation_p.R1365W|SBF1_ENST00000348911.6_Missense_Mutation_p.R1340W|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1339	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTCTGACCGCACACCCTGA	0.637																																																	0													36	39	38					22																	50894818		2026	4174	6200	SO:0001583	missense	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	10542	protein-coding gene	gene with protein product	"myotubularin related 5", "DENN/MADD domain containing 7A"	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4015C>T	22.37:g.50894818G>A	ENSP00000375097:p.Arg1339Trp		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.R1365W	ENST00000390679.3	37	c.4093		22	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476005	0.63737	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.93133	-3.17;-3.17;-3.17	5.02	3.96	0.45880	Myotubularin phosphatase domain (1);	0.299003	0.31784	N	0.007064	D	0.90542	0.7036	L	0.43152	1.355	0.37396	D	0.912624	P;P	0.52842	0.914;0.956	P;P	0.46049	0.453;0.502	D	0.92067	0.5661	10	0.87932	D	0	.	10.6744	0.45776	0.0:0.0:0.6425:0.3575	.	1339;1365	O95248;O95248-4	MTMR5_HUMAN;.	W	1365;1340;1375;1339	ENSP00000370196:R1365W;ENSP00000252027:R1340W;ENSP00000375097:R1339W	ENSP00000336522:R1375W	R	-	1	2	SBF1	49241684	1.000000	0.71417	0.997000	0.53966	0.881000	0.50899	5.175000	0.65021	2.640000	0.89533	0.555000	0.69702	CGG	SBF1	-	NULL	ENSG00000100241		0.637	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding			0	56	0	G			50894818	-1			no_errors	ENST00000380817	ensembl	human	known	74_37	missense	5.56	50	3	SNP	1.000	A	A	50894818	G	A	50894818	3	1	95	1	0	0	0	0	1	0	0	0	13903	1086	38	1	1632	1	SBF1	22	50894818	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		50894818	409748	320	27499											
TYMP	1890	genome.wustl.edu	37	chr22	50967742	50967742	+	Frame_Shift_Del	DEL	A	A	-																															tcctccagatccatgccccgAagtcggatggccatcagcat																										TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chr22:50967742delA	ENST00000252029.3	-	3	402	c.240delT	c.(238-240)cttfs	p.L80fs	SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395680.1_Frame_Shift_Del_p.L80fs|TYMP_ENST00000395681.1_Frame_Shift_Del_p.L80fs|TYMP_ENST00000395678.3_Frame_Shift_Del_p.L80fs	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	80					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CCATGCCCCGAAGTCGGATGG	0.692																																																	0													40	41	40					22																	50967742		2203	4298	6501	SO:0001589	frameshift_variant	0			M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"gliostatin"	131222	"endothelial cell growth factor 1 (platelet-derived)"	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.240delT	22.37:g.50967742delA	ENSP00000252029:p.Leu80fs		A8MW15|H9KVA0|Q13390|Q8WVB7	Frame_Shift_Del	DEL	pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	p.R81fs	ENST00000252029.3	37	c.240	CCDS14096.1	22																																																																																			TYMP	-	pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk	ENSG00000025708		0.692	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TYMP	HGNC	protein_coding	OTTHUMT00000317081.1		0	71	0	A	NM_001953		50967742	-1	tier1		no_errors	ENST00000252029	ensembl	human	known	74_37	frame_shift_del	47.27	29	26	DEL	0.353	-	-	50967742	A	-	50967742	7	5	95	1	0	1	0	1	0	0	0	0	16860	233	9	0	1240	0	TYMP	22	50967742	Frame_Shift_Del	DEL	A	TCGA-L5-A8NW-01A-11D-A37C-09	72924	50967742	336824	321	27500											
GLRA2	2742	genome.wustl.edu	37	chrX	14599304	14599304	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccacggcatttctgtaGgactaccgagtgaatatttt	9	15	9	8	2	1	1	0	1	1	0	2	3	2	2	2	2	1	2	2	2	4	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:14599304G>T	ENST00000218075.4	+	4	800		c.e4-1		GLRA2_ENST00000355020.4_Splice_Site|GLRA2_ENST00000443437.2_Splice_Site	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2						chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	CATTTCTGTAGGACTACCGAG	0.468																																																	0													90	82	85					X																	14599304		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.271-1G>T	X.37:g.14599304G>T			A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Splice_Site	SNP	-	e4-1	ENST00000218075.4	37	c.271-1	CCDS14160.1	X	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639978	0.87760	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8728	0.92322	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRA2	14509225	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.715000	0.98748	2.404000	0.81709	0.600000	0.82982	.	GLRA2	-	-	ENSG00000101958		0.468	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1		0	29	0	G		Intron	14599304	1			no_errors	ENST00000218075	ensembl	human	known	74_37	splice_site	10.00	35	4	SNP	1.000	T	T	14599304	G	T	14599304	5	4	95	1	0	0	0	0	0	0	1	0	6481	1014	35	3	356	3	GLRA2	23	14599304	Splice_Site	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09		14599304	140671256	322	27501											
DMD	1756	genome.wustl.edu	37	chrX	31152222	31152222	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtattggagcttacctcTtgaactagggaaggagttgt	10	13	13	5	0	1	1	0	1	1	0	1	4	1	4	1	4	3	3	1	4	6	7			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:31152222T>G	ENST00000357033.4	-	77	11217	c.11011A>C	c.(11011-11013)Aga>Cga	p.R3671R	DMD_ENST00000378723.3_Silent_p.R603R|DMD_ENST00000343523.2_Silent_p.R1101R|DMD_ENST00000378702.4_Silent_p.R603R|DMD_ENST00000378680.2_Silent_p.R493R|DMD_ENST00000361471.4_Silent_p.R590R|DMD_ENST00000378677.2_Silent_p.R3667R|DMD_ENST00000359836.1_Silent_p.R1198R|DMD_ENST00000541735.1_Silent_p.R1101R|DMD_ENST00000474231.1_Silent_p.R1211R|DMD_ENST00000378707.3_Silent_p.R1211R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3671					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGCTTACCTCTTGAACTAGGG	0.488																																																	0													193	120	145					X																	31152222		2202	4300	6502	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.11011A>C	X.37:g.31152222T>G			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.R3671	ENST00000357033.4	37	c.11011	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287105	0.23478	.	.	ENSG00000198947	ENST00000465285	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.70228	0.3200	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69892	-0.5022	4	.	.	.	.	14.0965	0.65027	0.0:0.0:0.0:1.0	.	.	.	.	T	1399	.	.	K	-	2	0	DMD	31062143	0.998000	0.40836	0.904000	0.35570	0.978000	0.69477	3.120000	0.50430	1.973000	0.57446	0.486000	0.48141	AAG	DMD	-	pirsf_Dystrophin/utrophin	ENSG00000198947		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	18	0	T	NM_004006		31152222	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	silent	80.00	3	16	SNP	0.956	G	G	31152222	T	G	31152222	2	3	95	1	0	0	0	0	0	0	0	1	4594	1617	56	4		4	DMD	23	31152222	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	16552918	31152222	124118338	323	27502											
ZCCHC5	203430	genome.wustl.edu	37	chrX	77913424	77913424	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgcctcctggggcttcTcaatatttgggggatcctgg	4	13	14	10	0	1	0	1	0	1	0	4	1	3	1	3	6	1	1	3	6	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:77913424T>A	ENST00000321110.1	-	2	789	c.494A>T	c.(493-495)gAg>gTg	p.E165V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	165	Pro-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTGGGGCTTCTCAATATTTGG	0.562																																																	0													40	43	42					X																	77913424		2203	4300	6503	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"Zinc fingers, CCHC domain containing"	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.494A>T	X.37:g.77913424T>A	ENSP00000316794:p.Glu165Val		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E165V	ENST00000321110.1	37	c.494	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	T	9.510	1.105619	0.20632	.	.	ENSG00000179300	ENST00000321110	T	0.22539	1.95	3.34	2.13	0.27403	.	.	.	.	.	T	0.11793	0.0287	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.22386	0.039	T	0.23691	-1.0181	9	0.38643	T	0.18	.	7.111	0.25390	0.0:0.0:0.4605:0.5395	.	165	Q8N8U3	ZCHC5_HUMAN	V	165	ENSP00000316794:E165V	ENSP00000316794:E165V	E	-	2	0	ZCCHC5	77800080	0.019000	0.18553	0.003000	0.11579	0.045000	0.14185	0.195000	0.17155	0.469000	0.27268	0.345000	0.21793	GAG	ZCCHC5	-	NULL	ENSG00000179300		0.562	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0	15	0	T	NM_152694		77913424	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	missense	57.69	11	15	SNP	0.002	A	A	77913424	T	A	77913424	3	1	95	1	0	0	0	0	1	0	0	0	17639	1551	54	5	937	5	ZCCHC5	23	77913424	Missense_Mutation	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	46761202	77913424	77357136	324	27503											
HDX	139324	genome.wustl.edu	37	chrX	83599352	83599352	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctctcctggtgtgagTgcagataaagaaccagactc	10	10	10	11	0	1	4	0	1	1	3	4	4	2	4	3	1	2	2	3	1	3	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:83599352T>A	ENST00000297977.5	-	6	1677	c.1566A>T	c.(1564-1566)gcA>gcT	p.A522A	HDX_ENST00000373177.2_Silent_p.A522A|HDX_ENST00000506585.2_Silent_p.A464A	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	522						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGTGTGAGTGCAGATAAAG	0.463																																					Pancreas(53;231 1169 36156 43751 51139)												0													97	89	92					X																	83599352		2203	4300	6503	SO:0001819	synonymous_variant	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"Homeoboxes / POU class"	26411	protein-coding gene	gene with protein product			"chromosome X open reading frame 43"	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1566A>T	X.37:g.83599352T>A			A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A522	ENST00000297977.5	37	c.1566	CCDS35342.1	X																																																																																			HDX	-	NULL	ENSG00000165259		0.463	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	-	0	33	0	T	NM_144657		83599352	-1	tier1	-	no_errors	ENST00000297977	ensembl	human	known	74_37	silent	69.23	16	36	SNP	0.453	A	A	83599352	T	A	83599352	2	1	95	1	0	0	0	0	0	0	0	1	7053	1683	59	5		5	HDX	23	83599352	Silent	SNP	T	TCGA-L5-A8NW-01A-11D-A37C-09	5685928	83599352	71671208	325	27504											
ARMCX2	9823	genome.wustl.edu	37	chrX	100911645	100911645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatctccaggacggaaGcccatccccagttcgtctac	8	7	8	18	2	2	0	0	0	2	0	5	2	3	2	6	2	2	1	6	2	2	2			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:100911645G>T	ENST00000328766.5	-	5	1383	c.930C>A	c.(928-930)ggC>ggA	p.G310G	ARMCX2_ENST00000330154.2_Silent_p.G310G|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000356824.4_Silent_p.G310G	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	310						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CAGGACGGAAGCCCATCCCCA	0.597																																																	0													104	116	112					X																	100911645		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"Armadillo repeat containing"	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.930C>A	X.37:g.100911645G>T			O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.G310	ENST00000328766.5	37	c.930	CCDS14490.1	X																																																																																			ARMCX2	-	NULL	ENSG00000184867		0.597	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	-	0	68	0	G	NM_014782		100911645	-1	tier1	-	no_errors	ENST00000328766	ensembl	human	known	74_37	silent	72.22	10	26	SNP	0.998	T	T	100911645	G	T	100911645	2	4	95	1	0	0	0	0	0	0	0	1	961	958	34	3		3	ARMCX2	23	100911645	Silent	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	17312293	100911645	54358915	326	27505											
MAGEA1	4100	genome.wustl.edu	37	chrX	152482748	152482748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatacaagaggtgcttGgcccctcctcttcacggctg	7	9	11	14	1	2	1	1	0	1	1	3	2	3	2	4	4	2	2	4	4	2	3			TCGA-L5-A8NW-01A-11D-A37C-09	TCGA-L5-A8NW-11A-11D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	370d63ba-ca43-476e-95e4-77d91bb19934	f3654dd1-89bb-48df-ac30-c7a2e12c32e7	g.chrX:152482748G>A	ENST00000356661.5	-	3	481	c.263C>T	c.(262-264)cCa>cTa	p.P88L		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	88					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGTGCTTGGCCCCTCCTC	0.552																																																	0													98	95	96					X																	152482748		2203	4300	6503	SO:0001583	missense	0				CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"melanoma-associated antigen 1", "melanoma-associated antigen MZ2-E", "melanoma antigen MAGE-1", "melanoma antigen family A 1", "cancer/testis antigen family 1, member 1"	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.263C>T	X.37:g.152482748G>A	ENSP00000349085:p.Pro88Leu		B2RC81|O00346	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P88L	ENST00000356661.5	37	c.263	CCDS14720.1	X	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713084	0.30413	.	.	ENSG00000198681	ENST00000356661	T	0.05649	3.41	1.04	1.04	0.20106	Melanoma associated antigen, MAGE, N-terminal (1);	0.869566	0.10301	N	0.691176	T	0.20700	0.0498	M	0.82923	2.615	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.12528	-1.0544	10	0.31617	T	0.26	.	5.13	0.14905	0.0:0.0:1.0:0.0	.	88	P43355	MAGA1_HUMAN	L	88	ENSP00000349085:P88L	ENSP00000349085:P88L	P	-	2	0	MAGEA1	152135942	0.004000	0.15560	0.004000	0.12327	0.131000	0.20780	1.104000	0.31074	0.809000	0.34255	0.384000	0.25694	CCA	MAGEA1	-	pfam_Melanoma_ass_antigen_N	ENSG00000198681		0.552	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA1	HGNC	protein_coding	OTTHUMT00000060940.1	-	0	62	0	G	NM_004988		152482748	-1	tier1	-	no_errors	ENST00000356661	ensembl	human	known	74_37	missense	74.65	18	53	SNP	0.004	A	A	152482748	G	A	152482748	3	1	95	1	0	0	0	0	1	0	0	0	9199	1348	47	3	670	3	MAGEA1	23	152482748	Missense_Mutation	SNP	G	TCGA-L5-A8NW-01A-11D-A37C-09	51571103	152482748	2787812	327	27506											
TAS1R2	80834	genome.wustl.edu	37	chr1	19180923	19180923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctgctgaggggtggCggcccagcctgtgggcccca	3	7	17	14	1	0	1	0	1	0	0	1	1	1	1	5	6	2	1	5	6	0	0	rs377629361		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:19180923C>T	ENST00000375371.3	-	3	1062	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	347					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.P347P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGAGGGGTGGCGGCCCAGCCT	0.637																																																	1	Substitution - coding silent(1)	large_intestine(1)											75	72	73					1																	19180923		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14905	protein-coding gene	gene with protein product		606226	"G protein-coupled receptor 71"	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1041G>A	1.37:g.19180923C>T			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.P347	ENST00000375371.3	37	c.1041	CCDS187.1	1																																																																																			TAS1R2	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179002		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1		0	40	0	C			19180923	-1			no_errors	ENST00000375371	ensembl	human	novel	74_37	silent	5.17	55	3	SNP	0.000	T	T	19180923	C	T	19180923	2	4	96	1	0	0	0	0	0	0	0	1	15610	755	27	1		1	TAS1R2	1	19180923	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		19180923	230069698	1	27507											
RHCE	6006	genome.wustl.edu	37	chr1	25718576	25718576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggcaccaggccacagtCagcccaaaataggctgcgaa	13	3	12	13	1	1	0	1	0	0	0	1	1	1	0	3	4	2	3	3	4	4	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:25718576C>T	ENST00000294413.7	-	4	601	c.543G>A	c.(541-543)ctG>ctA	p.L181L	RHCE_ENST00000425135.1_Silent_p.L181L|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000243186.6_Silent_p.L181L|RHCE_ENST00000374352.2_Silent_p.L165L|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Silent_p.L181L|RHCE_ENST00000413854.1_Silent_p.L181L|RHCE_ENST00000349320.3_Silent_p.L165L	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	181						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCACAGTCAGCCCAAAAT	0.522																																																	0													255	205	222					1																	25718576		2203	4300	6503	SO:0001819	synonymous_variant	0			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"CD molecules", "Blood group antigens"	10008	protein-coding gene	gene with protein product		111700	"Rhesus blood group, CcEe antigens"	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.543G>A	1.37:g.25718576C>T			A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Silent	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.L181	ENST00000294413.7	37	c.543	CCDS30635.1	1																																																																																			RHCE	-	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	ENSG00000188672		0.522	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020312.2	-	0	137	0	C	NM_020485		25718576	-1	tier1	-	no_errors	ENST00000294413	ensembl	human	known	74_37	silent	35.60	123	68	SNP	0.990	T	T	25718576	C	T	25718576	2	4	96	1	0	0	0	0	0	0	0	1	13370	813	29	3		3	RHCE	1	25718576	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	6537653	25718576	223532045	2	27508											
ELAVL4	1996	genome.wustl.edu	37	chr1	50610816	50610816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaattcaggagtctctTcgggagcattggtgaaatag	13	10	13	5	1	2	3	1	1	1	2	4	5	2	5	0	3	1	1	0	3	4	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:50610816T>G	ENST00000371823.4	+	2	421	c.197T>G	c.(196-198)tTc>tGc	p.F66C	ELAVL4_ENST00000357083.4_Missense_Mutation_p.F83C|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371821.1_Missense_Mutation_p.F71C|ELAVL4_ENST00000371819.1_Missense_Mutation_p.F71C|ELAVL4_ENST00000371827.1_Missense_Mutation_p.F66C|ELAVL4_ENST00000448907.2_Missense_Mutation_p.F69C|ELAVL4_ENST00000371824.1_Missense_Mutation_p.F66C	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	66	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGGAGTCTCTTCGGGAGCATT	0.433																																																	0													96	93	94					1																	50610816		2203	4300	6503	SO:0001583	missense	0			AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"RNA binding motif (RRM) containing"	3315	protein-coding gene	gene with protein product	"Hu antigen D"	168360	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)", "ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.197T>G	1.37:g.50610816T>G	ENSP00000360888:p.Phe66Cys		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.F71C	ENST00000371823.4	37	c.212	CCDS553.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.261016	0.80246	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.76905	0.4053	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.82699	-0.0328	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	71;71;66;66;83;66;69	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	C	69;66;83;66;66;71;71	ENSP00000399939:F69C;ENSP00000360892:F66C;ENSP00000349594:F83C;ENSP00000360889:F66C;ENSP00000360888:F66C;ENSP00000360886:F71C;ENSP00000360884:F71C	ENSP00000349594:F83C	F	+	2	0	ELAVL4	50383403	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	TTC	ELAVL4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000162374		0.433	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	ELAVL4	HGNC	protein_coding	OTTHUMT00000021712.1	-	0	28	0	T	NM_021952		50610816	1	tier1	-	no_errors	ENST00000371821	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G	G	50610816	T	G	50610816	3	3	96	1	0	0	0	0	1	0	0	0	5068	1783	62	4	302	4	ELAVL4	1	50610816	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	24892240	50610816	198639805	3	27509											
EPS15	2060	genome.wustl.edu	37	chr1	51864773	51864773	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggcaaaaggatcagtagaTtgcctgaagaaacagtctga	15	8	12	6	0	2	4	1	2	1	2	2	5	2	5	1	2	2	2	1	2	5	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:51864773T>G	ENST00000371733.3	-	20	2079	c.1983A>C	c.(1981-1983)caA>caC	p.Q661H	EPS15_ENST00000371730.2_Missense_Mutation_p.Q527H|EPS15_ENST00000396122.4_Missense_Mutation_p.Q338H	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	661	15 X 3 AA repeats of D-P-F.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						GATCAGTAGATTGCCTGAAGA	0.378			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											132	124	127					1																	51864773		2203	4300	6503	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1983A>C	1.37:g.51864773T>G	ENSP00000360798:p.Gln661His		B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.Q661H	ENST00000371733.3	37	c.1983	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	T	15.63	2.890993	0.52014	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.22743	1.94;1.94;1.94	5.44	-4.2	0.03823	.	.	.	.	.	T	0.38188	0.1031	M	0.62723	1.935	0.25692	N	0.98568	D;D;D	0.71674	0.991;0.995;0.998	P;D;D	0.68192	0.687;0.927;0.956	T	0.38045	-0.9679	9	0.40728	T	0.16	.	14.6865	0.69052	0.0:0.4327:0.0:0.5673	.	527;661;347	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	H	527;661;338	ENSP00000360795:Q527H;ENSP00000360798:Q661H;ENSP00000379428:Q338H	ENSP00000360795:Q527H	Q	-	3	2	EPS15	51637361	0.004000	0.15560	0.961000	0.40146	0.963000	0.63663	-1.762000	0.01803	-0.674000	0.05253	-0.415000	0.06103	CAA	EPS15	-	NULL	ENSG00000085832		0.378	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	-	0	23	0	T	NM_001981		51864773	-1	tier1	-	no_errors	ENST00000371733	ensembl	human	known	74_37	missense	52.08	23	25	SNP	0.792	G	G	51864773	T	G	51864773	3	3	96	1	0	0	0	0	1	0	0	0	5208	1490	52	4	731	4	EPS15	1	51864773	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	1253957	51864773	197385848	4	27510											
AK5	26289	genome.wustl.edu	37	chr1	77748056	77748056	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaatccctcagctttttGaggtagggctagagctggcc	8	10	14	9	0	1	2	1	1	0	1	2	3	2	3	2	4	2	4	2	4	3	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:77748056G>T	ENST00000354567.2	+	1	321	c.58G>T	c.(58-60)Gag>Tag	p.E20*	AK5_ENST00000344720.5_5'Flank|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	20					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCAGCTTTTTGAGGTAGGGCT	0.667																																																	0													40	37	38					1																	77748056		2164	4258	6422	SO:0001587	stop_gained	0			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.58G>T	1.37:g.77748056G>T	ENSP00000346577:p.Glu20*		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.E20*	ENST00000354567.2	37	c.58	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.548695	0.98352	.	.	ENSG00000154027	ENST00000354567	.	.	.	4.29	3.35	0.38373	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.2508	13.253	0.60062	0.0:0.0:0.8396:0.1604	.	.	.	.	X	20	.	ENSP00000346577:E20X	E	+	1	0	AK5	77520644	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	6.025000	0.70864	1.127000	0.42034	0.561000	0.74099	GAG	AK5	-	pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b	ENSG00000154027		0.667	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	-	0	76	0	G	NM_174858		77748056	1	tier1	-	no_errors	ENST00000354567	ensembl	human	known	74_37	nonsense	18.37	80	18	SNP	1.000	T	T	77748056	G	T	77748056	4	4	96	1	0	0	0	0	0	1	0	0	443	1291	45	3	60	3	AK5	1	77748056	Nonsense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	25883283	77748056	171502565	5	27511											
ABCD3	5825	genome.wustl.edu	37	chr1	94964343	94964343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctctctttaatagttatGgcctctttttggaggacgtc	6	18	8	9	1	3	0	0	0	3	0	6	2	3	2	1	3	0	1	1	3	3	6			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:94964343G>T	ENST00000370214.4	+	18	1493	c.1469G>T	c.(1468-1470)tGg>tTg	p.W490L	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.W380L|ABCD3_ENST00000536817.1_Missense_Mutation_p.W417L|ABCD3_ENST00000454898.2_Missense_Mutation_p.W514L	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	490	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TAATAGTTATGGCCTCTTTTT	0.348																																																	0													115	111	112					1																	94964343		2203	4300	6503	SO:0001583	missense	0			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"ATP binding cassette transporters / subfamily D"	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1469G>T	1.37:g.94964343G>T	ENSP00000359233:p.Trp490Leu		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter	p.W514L	ENST00000370214.4	37	c.1541	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787298	0.90367	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99806	-6.84;-6.84;-6.84;-6.84	5.76	5.76	0.90799	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	L	0.39020	1.185	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.80764	0.994;0.994;0.994	D	0.98411	1.0572	10	0.87932	D	0	-6.6228	19.9561	0.97218	0.0:0.0:1.0:0.0	.	514;380;490	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	L	380;514;417;490	ENSP00000377780:W380L;ENSP00000403357:W514L;ENSP00000440692:W417L;ENSP00000359233:W490L	ENSP00000359233:W490L	W	+	2	0	ABCD3	94736931	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.230000	0.95299	2.725000	0.93324	0.591000	0.81541	TGG	ABCD3	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter	ENSG00000117528		0.348	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1		0	46	0	G	NM_002858		94964343	1			no_errors	ENST00000454898	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	94964343	G	T	94964343	3	4	96	1	0	0	0	0	1	0	0	0	62	1357	47	3	1570	3	ABCD3	1	94964343	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	17216287	94964343	154286278	6	27512											
PFDN2	5202	genome.wustl.edu	37	chr1	161070556	161070556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctggcttctcatcttctcCcatgagacgaatgttgtgct	6	15	9	11	1	3	1	1	1	3	1	5	3	3	1	1	1	2	4	1	1	1	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:161070556C>T	ENST00000368010.3	-	4	466	c.382G>A	c.(382-384)Gga>Aga	p.G128R	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	128					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCATCTTCTCCCATGAGACGA	0.502																																																	0													152	141	145					1																	161070556		2203	4300	6503	SO:0001583	missense	0			AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"prefoldin 2"			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.382G>A	1.37:g.161070556C>T	ENSP00000356989:p.Gly128Arg		Q9P0P7|Q9UN05	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.G128R	ENST00000368010.3	37	c.382	CCDS1217.1	1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338305	0.81911	.	.	ENSG00000143256	ENST00000368010	T	0.43688	0.94	5.24	4.34	0.51931	Prefoldin beta-like (1);	0.051197	0.85682	N	0.000000	T	0.44912	0.1316	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.41698	-0.9494	10	0.42905	T	0.14	-20.0447	11.2924	0.49258	0.0:0.9132:0.0:0.0868	.	128	Q9UHV9	PFD2_HUMAN	R	128	ENSP00000356989:G128R	ENSP00000356989:G128R	G	-	1	0	PFDN2	159337180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.594000	0.61041	1.444000	0.47605	0.561000	0.74099	GGA	PFDN2	-	pfam_PFD_beta-like	ENSG00000143256		0.502	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN2	HGNC	protein_coding	OTTHUMT00000077100.1	-	0	71	0	C	NM_012394		161070556	-1	tier1	-	no_errors	ENST00000368010	ensembl	human	known	74_37	missense	5.19	146	8	SNP	1.000	T	T	161070556	C	T	161070556	3	4	96	1	0	0	0	0	1	0	0	0	11795	632	22	3	86	3	PFDN2	1	161070556	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	66106213	161070556	88180065	7	27513											
AHCTF1	25909	genome.wustl.edu	37	chr1	247065950	247065950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctgtcaggtccagggTgtatctttcttcacagtatt	7	14	9	11	0	4	0	2	0	2	0	5	0	5	0	3	2	0	2	3	2	2	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:247065950T>C	ENST00000391829.2	-	8	1117	c.994A>G	c.(994-996)Acc>Gcc	p.T332A	AHCTF1_ENST00000326225.3_Missense_Mutation_p.T341A|AHCTF1_ENST00000366508.1_Missense_Mutation_p.T367A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	332	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGTCCAGGGTGTATCTTTCT	0.388																																					Colon(145;197 1800 4745 15099 26333)												0													103	97	99					1																	247065950		2203	4300	6503	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.994A>G	1.37:g.247065950T>C	ENSP00000375705:p.Thr332Ala		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.T341A	ENST00000391829.2	37	c.1021		1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167780	0.57476	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.21361	2.01;2.01;2.01	5.2	4.07	0.47477	.	0.095952	0.64402	D	0.000001	T	0.15955	0.0384	N	0.14661	0.345	0.34736	D	0.730222	P;P	0.46512	0.879;0.842	P;B	0.45639	0.488;0.248	T	0.21348	-1.0248	10	0.59425	D	0.04	-12.6948	11.067	0.47980	0.0:0.0734:0.0:0.9266	.	367;332	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	A	367;341;332	ENSP00000355464:T367A;ENSP00000355465:T341A;ENSP00000375705:T332A	ENSP00000355465:T341A	T	-	1	0	AHCTF1	245132573	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	7.460000	0.80816	0.927000	0.37143	0.460000	0.39030	ACC	AHCTF1	-	NULL	ENSG00000153207		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding			0	37	0	T	NM_015446		247065950	-1			no_errors	ENST00000326225	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	C	C	247065950	T	C	247065950	3	2	96	1	0	0	0	0	1	0	0	0	408	1696	59	4	5922	4	AHCTF1	1	247065950	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	85995394	247065950	2184671	8	27514											
OR2T12	127064	genome.wustl.edu	37	chr1	248457987	248457987	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccccagccaccgtttcagGgcttccttgacctcactgtt	5	12	8	16	1	2	1	2	1	0	0	4	1	4	1	6	1	1	3	6	1	0	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr1:248457987G>T	ENST00000317996.1	-	1	893	c.894C>A	c.(892-894)gcC>gcA	p.A298A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACCGTTTCAGGGCTTCCTTGA	0.468																																																	0													166	161	163					1																	248457987		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"GPCR / Class A : Olfactory receptors"	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.894C>A	1.37:g.248457987G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A298	ENST00000317996.1	37	c.894	CCDS31110.1	1																																																																																			OR2T12	-	NULL	ENSG00000177201		0.468	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T12	HGNC	protein_coding	OTTHUMT00000097353.1	-	0	98	0	G	NM_001004692		248457987	-1	tier1	-	no_errors	ENST00000317996	ensembl	human	known	74_37	silent	16.67	95	19	SNP	0.001	T	T	248457987	G	T	248457987	2	4	96	1	0	0	0	0	0	0	0	1	11058	1219	43	3		3	OR2T12	1	248457987	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	1392037	248457987	792634	9	27515											
SOCS5	9655	genome.wustl.edu	37	chr2	46986968	46986968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcccgaattgagcagtgGaatcacaactttagtttcga	12	11	9	9	2	1	1	1	1	0	0	2	4	1	2	1	1	3	2	1	1	4	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:46986968G>T	ENST00000306503.5	+	2	1471	c.1299G>T	c.(1297-1299)tgG>tgT	p.W433C	SOCS5_ENST00000394861.2_Missense_Mutation_p.W433C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	433	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTGAGCAGTGGAATCACAACT	0.493																																																	0													114	112	113					2																	46986968		2203	4300	6503	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1299G>T	2.37:g.46986968G>T	ENSP00000305133:p.Trp433Cys		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.W433C	ENST00000306503.5	37	c.1299	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625167	0.66901	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.88354	-2.37;-2.37	5.43	5.43	0.79202	SH2 motif (4);	0.131240	0.64402	D	0.000014	D	0.91660	0.7364	L	0.33137	0.985	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.92152	0.5729	10	0.66056	D	0.02	-15.4853	19.0206	0.92912	0.0:0.0:1.0:0.0	.	433	O75159	SOCS5_HUMAN	C	433	ENSP00000305133:W433C;ENSP00000378330:W433C	ENSP00000305133:W433C	W	+	3	0	SOCS5	46840472	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.803000	0.85983	2.824000	0.97209	0.655000	0.94253	TGG	SOCS5	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000171150		0.493	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	-	0	42	0	G			46986968	1	tier1	-	no_errors	ENST00000306503	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	T	T	46986968	G	T	46986968	3	4	96	1	0	0	0	0	1	0	0	0	14962	1183	41	3	1301	3	SOCS5	2	46986968	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09		46986968	196212405	10	27516											
CCDC85A	114800	genome.wustl.edu	37	chr2	56420246	56420246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggagcagccccgaaaCgctgcccaagcacgtgctga	10	4	12	15	3	0	1	0	1	0	0	1	3	1	2	4	1	6	4	4	1	2	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:56420246C>T	ENST00000407595.2	+	2	1413	c.911C>T	c.(910-912)aCg>aTg	p.T304M	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	304	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCCCCGAAACGCTGCCCAAG	0.647																																																	0													61	75	70					2																	56420246		2051	4190	6241	SO:0001583	missense	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.911C>T	2.37:g.56420246C>T	ENSP00000384040:p.Thr304Met			Missense_Mutation	SNP	pfam_DUF2216_coiled-coil	p.T304M	ENST00000407595.2	37	c.911	CCDS46290.1	2	.	.	.	.	.	.	.	.	.	.	C	7.198	0.592850	0.13875	.	.	ENSG00000055813	ENST00000407595	T	0.49720	0.77	5.35	3.11	0.35812	.	0.512963	0.22554	N	0.058552	T	0.35189	0.0923	L	0.47716	1.5	0.37720	D	0.924885	B	0.24882	0.113	B	0.11329	0.006	T	0.21381	-1.0247	10	0.45353	T	0.12	-26.0238	5.1804	0.15158	0.1533:0.6468:0.0:0.1999	.	304	Q96PX6	CC85A_HUMAN	M	304	ENSP00000384040:T304M	ENSP00000384040:T304M	T	+	2	0	CCDC85A	56273750	0.990000	0.36364	0.290000	0.24890	0.500000	0.33767	2.912000	0.48782	0.386000	0.24997	0.591000	0.81541	ACG	CCDC85A	-	NULL	ENSG00000055813		0.647	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC85A	HGNC	protein_coding	OTTHUMT00000324993.1		0	20	0	C			56420246	1			no_errors	ENST00000407595	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.524	T	T	56420246	C	T	56420246	3	4	96	1	0	0	0	0	1	0	0	0	2866	536	19	1	917	1	CCDC85A	2	56420246	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	9433278	56420246	186779127	11	27517											
DOK1	1796	genome.wustl.edu	37	chr2	74784044	74784044	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaccccctcggagcAcaaagcccctccttgctccc	6	7	7	21	1	0	0	0	0	0	0	3	1	2	1	7	1	4	2	7	1	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:74784044A>T	ENST00000233668.5	+	5	1918	c.1249A>T	c.(1249-1251)Aca>Tca	p.T417S	LOXL3_ENST00000393937.2_5'Flank|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000264094.3_5'Flank|LOXL3_ENST00000409986.1_5'Flank|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.T278S	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	417	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCTCGGAGCACAAAGCCCCT	0.607																																					Esophageal Squamous(36;520 860 12502 33616 51270)												0													132	136	135					2																	74784044		2203	4300	6503	SO:0001583	missense	0			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"docking protein 1, 62kD (downstream of tyrosine kinase 1)"			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.1249A>T	2.37:g.74784044A>T	ENSP00000233668:p.Thr417Ser		O43204|Q53TY2|Q9UHG6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.T417S	ENST00000233668.5	37	c.1249	CCDS1954.1	2	.	.	.	.	.	.	.	.	.	.	A	5.939	0.357219	0.11239	.	.	ENSG00000115325	ENST00000409429;ENST00000233668	T;T	0.29655	1.56;1.56	5.09	-0.393	0.12438	.	0.859686	0.10009	N	0.727454	T	0.20495	0.0493	L	0.44542	1.39	0.54753	D	0.999983	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.16571	-1.0398	10	0.27785	T	0.31	-10.7049	2.9468	0.05848	0.5144:0.2783:0.0831:0.1242	.	406;417	B4DJN1;Q99704	.;DOK1_HUMAN	S	278;417	ENSP00000387016:T278S;ENSP00000233668:T417S	ENSP00000233668:T417S	T	+	1	0	DOK1	74637552	0.021000	0.18746	0.967000	0.41034	0.949000	0.60115	0.713000	0.25794	0.070000	0.16634	0.459000	0.35465	ACA	DOK1	-	NULL	ENSG00000115325		0.607	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3	-	0	18	0	A	NM_001381		74784044	1	tier1	-	no_errors	ENST00000233668	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.707	T	T	74784044	A	T	74784044	3	4	96	1	0	0	0	0	1	0	0	0	4710	159	6	5	1267	5	DOK1	2	74784044	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	18363798	74784044	168415329	12	27518											
CIAO1	55654	genome.wustl.edu	37	chr2	96934194	96934194	+	5'Flank	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctttcactcttcccccaGctcttagcttctgccagcta	5	15	4	17	0	4	0	1	0	3	0	6	0	6	0	4	0	4	3	4	0	2	6			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:96934194G>T	ENST00000258439.3	-	0	0				CIAO1_ENST00000488633.1_Splice_Site|TMEM127_ENST00000432959.1_5'Flank	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TCTTCCCCCAGCTCTTAGCTT	0.483																																																	0													111	111	111					2																	96934194		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96934194G>T	Exception_encountered		D3DXH0	Splice_Site	SNP	-	e5-1	ENST00000258439.3	37	c.490-1	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385654	0.82792	.	.	ENSG00000144021	ENST00000488633	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5946	0.88007	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CIAO1	96297921	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	9.460000	0.97641	2.756000	0.94617	0.563000	0.77884	.	CIAO1	-	-	ENSG00000144021		0.483	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIAO1	HGNC	protein_coding	OTTHUMT00000252845.3	-	0	55	0	G	NM_017849		96934194	1	tier1	-	no_errors	ENST00000488633	ensembl	human	known	74_37	splice_site	29.85	47	20	SNP	1.000	T	T	96934194	G	T	96934194	1	4	96	0	1	0	0	0	0	0	0	0	3425	985	34	3		3	CIAO1	2	96934194	5'Flank	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	22150150	96934194	146265179	13	27519											
ZC3H8	84524	genome.wustl.edu	37	chr2	113007845	113007845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtatctatttcatcatCgattctgtagcaaaaatatc	12	17	4	8	1	5	0	2	0	3	0	7	1	5	0	0	0	1	3	0	0	6	7			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:113007845C>A	ENST00000409573.2	-	2	208	c.79G>T	c.(79-81)Gat>Tat	p.D27Y	ZC3H8_ENST00000272570.5_Missense_Mutation_p.D27Y			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	27					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						ATTTCATCATCGATTCTGTAG	0.343																																																	0													110	90	96					2																	113007845		1815	4067	5882	SO:0001583	missense	0			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"Zinc fingers, CCCH-type domain containing"	30941	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 8"	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.79G>T	2.37:g.113007845C>A	ENSP00000386488:p.Asp27Tyr		Q9BZ75	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D27Y	ENST00000409573.2	37	c.79	CCDS46392.1	2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443692	0.25987	.	.	ENSG00000144161	ENST00000409573;ENST00000272570	T;T	0.26373	1.74;1.74	3.51	0.651	0.17817	.	0.706306	0.12060	N	0.503246	T	0.22437	0.0541	M	0.68593	2.085	0.41000	D	0.984929	B	0.30406	0.278	B	0.25506	0.061	T	0.12708	-1.0537	10	0.72032	D	0.01	-4.5484	3.662	0.08242	0.0:0.554:0.2085:0.2375	.	27	Q8N5P1	ZC3H8_HUMAN	Y	27	ENSP00000386488:D27Y;ENSP00000272570:D27Y	ENSP00000272570:D27Y	D	-	1	0	ZC3H8	112724316	0.133000	0.22466	0.983000	0.44433	0.909000	0.53808	-0.001000	0.12947	0.114000	0.18032	-0.137000	0.14449	GAT	ZC3H8	-	NULL	ENSG00000144161		0.343	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	HGNC	protein_coding	OTTHUMT00000330521.3	-	0	57	0	C	NM_032494		113007845	-1	tier1	-	no_errors	ENST00000272570	ensembl	human	known	74_37	missense	10.64	84	10	SNP	0.986	A	A	113007845	C	A	113007845	3	1	96	1	0	0	0	0	1	0	0	0	17622	884	31	2	824	2	ZC3H8	2	113007845	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	16073651	113007845	130191528	14	27520											
TMEFF2	23671	genome.wustl.edu	37	chr2	192820998	192820998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcaagatggctcctgCatattgatagaatgctcaca	12	11	8	10	0	1	3	1	1	0	2	2	3	2	3	2	1	4	4	2	1	5	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr2:192820998C>T	ENST00000272771.5	-	8	2036	c.852G>A	c.(850-852)atG>atA	p.M284I	TMEFF2_ENST00000392314.1_Missense_Mutation_p.M284I|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	284	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ATGGCTCCTGCATATTGATAG	0.353																																					Pancreas(50;1277 1381 28487 47072)												0													129	112	117					2																	192820998		2202	4300	6502	SO:0001583	missense	0			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.852G>A	2.37:g.192820998C>T	ENSP00000272771:p.Met284Ile		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.M284I	ENST00000272771.5	37	c.852	CCDS2314.1	2	.	.	.	.	.	.	.	.	.	.	C	10.83	1.460052	0.26248	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.13420	2.59;2.59	4.55	4.55	0.56014	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.384643	0.30791	N	0.008874	T	0.09555	0.0235	N	0.12637	0.245	0.80722	D	1	B	0.20368	0.044	B	0.18561	0.022	T	0.23084	-1.0198	10	0.29301	T	0.29	-14.1921	17.8495	0.88740	0.0:1.0:0.0:0.0	.	284	Q9UIK5	TEFF2_HUMAN	I	284	ENSP00000376128:M284I;ENSP00000272771:M284I	ENSP00000272771:M284I	M	-	3	0	TMEFF2	192529243	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.742000	0.62103	2.499000	0.84300	0.491000	0.48974	ATG	TMEFF2	-	pfscan_EG-like_dom	ENSG00000144339		0.353	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	-	0	61	0	C	NM_016192		192820998	-1	tier1	-	no_errors	ENST00000272771	ensembl	human	known	74_37	missense	30.11	64	28	SNP	1.000	T	T	192820998	C	T	192820998	3	4	96	1	0	0	0	0	1	0	0	0	16061	710	25	3	284	3	TMEFF2	2	192820998	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	79813153	192820998	50378375	15	27521											
SLC6A1	6529	genome.wustl.edu	37	chr3	11064120	11064120	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggatccttgtgtattTctgtatctggaagggtgttg	5	16	13	7	1	2	0	0	0	2	0	3	2	3	2	2	3	0	3	2	3	3	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:11064120T>C	ENST00000287766.4	+	7	1101	c.680T>C	c.(679-681)tTc>tCc	p.F227S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.F49S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	227					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTTGTGTATTTCTGTATCTGG	0.547																																																	0													112	98	103					3																	11064120		2203	4300	6503	SO:0001583	missense	0				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"Solute carriers"	11042	protein-coding gene	gene with protein product	"GABA transporter 1"	137165	"solute carrier family 6 (neurotransmitter transporter, GABA), member 1"			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.680T>C	3.37:g.11064120T>C	ENSP00000287766:p.Phe227Ser		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport	p.F227S	ENST00000287766.4	37	c.680	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	T	29.5	5.007662	0.93287	.	.	ENSG00000157103	ENST00000287766;ENST00000536032	T;T	0.76968	-1.06;-1.06	5.02	5.02	0.67125	.	0.070853	0.64402	D	0.000015	D	0.90376	0.6988	M	0.93808	3.46	0.80722	D	1	D	0.71674	0.998	D	0.68483	0.958	D	0.92929	0.6362	10	0.87932	D	0	.	14.9138	0.70778	0.0:0.0:0.0:1.0	.	227	P30531	SC6A1_HUMAN	S	227;49	ENSP00000287766:F227S;ENSP00000445171:F49S	ENSP00000287766:F227S	F	+	2	0	SLC6A1	11039120	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.757000	0.85209	2.107000	0.64212	0.459000	0.35465	TTC	SLC6A1	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000157103		0.547	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	-	0	76	0	T	NM_003042		11064120	1	tier1	-	no_errors	ENST00000287766	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	C	C	11064120	T	C	11064120	3	2	96	1	0	0	0	0	1	0	0	0	14718	1783	62	4	698	4	SLC6A1	3	11064120	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09		11064120	186958310	16	27522											
RBM6	10180	genome.wustl.edu	37	chr3	50012786	50012786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcggactcctgatggcAtgcctgtaaagaacttgcag	9	12	10	10	1	0	2	0	1	0	1	2	3	1	3	2	2	3	3	2	2	3	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:50012786A>T	ENST00000266022.4	+	5	1703	c.1444A>T	c.(1444-1446)Atg>Ttg	p.M482L	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000443081.1_Missense_Mutation_p.M350L|RBM6_ENST00000422955.1_De_novo_Start_OutOfFrame	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	482	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCCTGATGGCATGCCTGTAAA	0.378																																																	0													196	183	187					3																	50012786		2203	4300	6503	SO:0001583	missense	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"RNA binding motif (RRM) containing", "G patch domain containing"	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1444A>T	3.37:g.50012786A>T	ENSP00000266022:p.Met482Leu		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.M482L	ENST00000266022.4	37	c.1444	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	A	8.725	0.915363	0.17907	.	.	ENSG00000004534	ENST00000266022;ENST00000443081	T;T	0.29917	1.55;1.58	5.79	-1.2	0.09554	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	1.175070	0.05749	N	0.602681	T	0.19725	0.0474	L	0.37630	1.12	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22068	-1.0227	9	.	.	.	2.5538	1.4186	0.02307	0.3245:0.334:0.1255:0.2161	.	350;482	E9PGM9;P78332	.;RBM6_HUMAN	L	482;350	ENSP00000266022:M482L;ENSP00000396466:M350L	.	M	+	1	0	RBM6	49987790	0.001000	0.12720	0.150000	0.22450	0.960000	0.62799	0.161000	0.16481	-0.418000	0.07450	0.402000	0.26972	ATG	RBM6	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000004534		0.378	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	-	0	57	0	A	NM_005777		50012786	1	tier1	-	no_errors	ENST00000266022	ensembl	human	known	74_37	missense	40.82	29	20	SNP	0.005	T	T	50012786	A	T	50012786	3	4	96	1	0	0	0	0	1	0	0	0	13189	217	8	5	1458	5	RBM6	3	50012786	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	38948666	50012786	148009644	17	27523											
NPHP3	27031	genome.wustl.edu	37	chr3	132423181	132423181	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactgcccaaatccttaGtctccaagtctgtgttctca	8	13	5	15	0	4	0	2	0	3	0	7	0	5	0	4	0	1	1	4	0	3	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:132423181G>C	ENST00000337331.5	-	9	1471	c.1385C>G	c.(1384-1386)aCt>aGt	p.T462S	NPHP3_ENST00000326682.8_Missense_Mutation_p.T462S|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	462					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAATCCTTAGTCTCCAAGTC	0.403																																																	0													219	228	225					3																	132423181		2203	4300	6503	SO:0001583	missense	0			AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"Tetratricopeptide (TTC) repeat domain containing"	7907	protein-coding gene	gene with protein product	"nephrocystin-3", "Meckel syndrome, type 7", "cilia and flagella associated protein 31"	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1385C>G	3.37:g.132423181G>C	ENSP00000338766:p.Thr462Ser		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T462S	ENST00000337331.5	37	c.1385	CCDS3078.1	3	.	.	.	.	.	.	.	.	.	.	G	4.284	0.051802	0.08291	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.91068	-2.78;-2.66	5.77	-1.39	0.08997	.	1.217340	0.05291	N	0.521143	T	0.71896	0.3394	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63998	-0.6510	10	0.09338	T	0.73	-0.1032	3.5277	0.07765	0.1508:0.4158:0.252:0.1815	.	462	Q7Z494	NPHP3_HUMAN	S	462	ENSP00000319909:T462S;ENSP00000338766:T462S	ENSP00000319909:T462S	T	-	2	0	NPHP3	133905871	0.000000	0.05858	0.000000	0.03702	0.910000	0.53928	0.205000	0.17356	-0.094000	0.12374	0.655000	0.94253	ACT	NPHP3	-	superfamily_P-loop_NTPase	ENSG00000113971		0.403	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHP3	HGNC	protein_coding	OTTHUMT00000357020.2	-	0	19	0	G	NM_153240		132423181	-1	tier1	-	no_errors	ENST00000337331	ensembl	human	known	74_37	missense	42.47	42	31	SNP	0.000	C	C	132423181	G	C	132423181	3	2	96	1	0	0	0	0	1	0	0	0	10619	1029	36	5	2683	5	NPHP3	3	132423181	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	82410395	132423181	65599249	18	27524											
SLC25A36	55186	genome.wustl.edu	37	chr3	140692768	140692768	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatgaagagtctgtgaaAgaagcatcagattttgtggg	14	11	13	3	0	2	6	1	3	1	3	2	6	2	6	0	1	1	1	0	1	4	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:140692768A>G	ENST00000324194.6	+	6	831	c.663A>G	c.(661-663)aaA>aaG	p.K221K	SLC25A36_ENST00000446041.2_Silent_p.K221K|SLC25A36_ENST00000453248.2_Silent_p.K195K|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	221					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGTCTGTGAAAGAAGCATCAG	0.348																																																	0													68	69	69					3																	140692768		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"Solute carriers"	25554	protein-coding gene	gene with protein product			"solute carrier family 25, member 36"				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.663A>G	3.37:g.140692768A>G			A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.K221	ENST00000324194.6	37	c.663	CCDS46927.1	3																																																																																			SLC25A36	-	superfamily_Mt_carrier_dom	ENSG00000114120		0.348	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	-	0	41	0	A	NM_018155		140692768	1	tier1	-	no_errors	ENST00000324194	ensembl	human	known	74_37	silent	29.41	36	15	SNP	1.000	G	G	140692768	A	G	140692768	2	3	96	1	0	0	0	0	0	0	0	1	14545	69	3	4		4	SLC25A36	3	140692768	Silent	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	8269587	140692768	57329662	19	27525											
MECOM	2122	genome.wustl.edu	37	chr3	168825727	168825727	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttacccaagttctctgaTcaggcagttggaactgggag	11	10	11	9	0	2	1	1	1	1	0	3	3	2	3	1	3	3	3	1	3	4	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:168825727T>A	ENST00000472280.1	-	9	2298	c.2030A>T	c.(2029-2031)gAt>gTt	p.D677V	MECOM_ENST00000433243.2_Missense_Mutation_p.D677V|MECOM_ENST00000264674.3_Missense_Mutation_p.D741V|MECOM_ENST00000468789.1_Missense_Mutation_p.D676V|MECOM_ENST00000494292.1_Intron|MECOM_ENST00000464456.1_Intron|MECOM_ENST00000392736.3_Missense_Mutation_p.D676V|MECOM_ENST00000460814.1_Intron			Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTCTCTGATCAGGCAGTTG	0.308																																																	0													47	52	50					3																	168825727		2202	4298	6500	SO:0001583	missense	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"Zinc fingers, C2H2-type"	3498	protein-coding gene	gene with protein product		165215	"myelodysplasia syndrome 1", "ecotropic viral integration site 1"	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000472280.1:c.2030A>T	3.37:g.168825727T>A	ENSP00000420048:p.Asp677Val		Q13466|Q6FH90	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D741V	ENST00000472280.1	37	c.2222		3	.	.	.	.	.	.	.	.	.	.	T	16.03	3.007302	0.54361	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000472280;ENST00000468789;ENST00000433243	T;T;T;T;T	0.05447	3.44;3.44;3.54;3.44;3.54	6.1	6.1	0.99115	.	.	.	.	.	T	0.19927	0.0479	L	0.44542	1.39	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.997;0.994	T	0.00128	-1.2018	9	0.72032	D	0.01	-15.3977	16.686	0.85306	0.0:0.0:0.0:1.0	.	864;741;676	Q03112-3;Q03112-4;Q03112	.;.;EVI1_HUMAN	V	741;676;677;676;677	ENSP00000264674:D741V;ENSP00000376493:D676V;ENSP00000420048:D677V;ENSP00000419995:D676V;ENSP00000394302:D677V	ENSP00000264674:D741V	D	-	2	0	MECOM	170308421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.396000	0.79891	2.340000	0.79590	0.528000	0.53228	GAT	MECOM	-	NULL	ENSG00000085276		0.308	MECOM-019	NOVEL	alternative_5_UTR|basic|exp_conf	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351553.1	-	0	35	0	T	NM_005241, NM_004991		168825727	-1	tier1	-	no_errors	ENST00000264674	ensembl	human	known	74_37	missense	18.03	50	11	SNP	1.000	A	A	168825727	T	A	168825727	3	1	96	1	0	0	0	0	1	0	0	0	9460	1435	50	5	1160	5	MECOM	3	168825727	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	28132959	168825727	29196703	20	27526											
YEATS2	55689	genome.wustl.edu	37	chr3	183439772	183439772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatctcctgccaatcagAgagcagaaacaccatcagcc	14	6	6	15	0	4	2	3	0	1	2	5	3	4	2	4	0	4	1	4	0	2	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:183439772A>G	ENST00000305135.5	+	5	580	c.385A>G	c.(385-387)Aga>Gga	p.R129G		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	129					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGCCAATCAGAGAGCAGAAAC	0.358																																																	0													141	135	137					3																	183439772		1949	4158	6107	SO:0001583	missense	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.385A>G	3.37:g.183439772A>G	ENSP00000306983:p.Arg129Gly		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.R129G	ENST00000305135.5	37	c.385	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	A	7.378	0.628204	0.14257	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.57595	0.39	5.69	4.54	0.55810	.	0.200516	0.43416	N	0.000561	T	0.29524	0.0736	N	0.20685	0.6	0.30187	N	0.799886	B	0.02656	0.0	B	0.04013	0.001	T	0.27262	-1.0079	10	0.06365	T	0.9	-18.6988	6.4937	0.22130	0.7768:0.0:0.2232:0.0	.	129	Q9ULM3	YETS2_HUMAN	G	129	ENSP00000306983:R129G	ENSP00000306983:R129G	R	+	1	2	YEATS2	184922466	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.037000	0.41174	1.005000	0.39183	0.482000	0.46254	AGA	YEATS2	-	NULL	ENSG00000163872		0.358	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	-	0	38	0	A	NM_018023		183439772	1	tier1	-	no_errors	ENST00000305135	ensembl	human	known	74_37	missense	47.25	48	43	SNP	1.000	G	G	183439772	A	G	183439772	3	3	96	1	0	0	0	0	1	0	0	0	17521	296	11	4	399	4	YEATS2	3	183439772	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	14614045	183439772	14582658	21	27527											
CLCN2	1181	genome.wustl.edu	37	chr3	184075627	184075627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcagcacacatgcttgcGatatgcacaaaagggccctg	12	6	12	11	1	0	0	0	0	0	0	0	1	0	0	1	2	4	4	1	2	3	2	rs370199115		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr3:184075627G>A	ENST00000265593.4	-	6	804	c.633C>T	c.(631-633)atC>atT	p.I211I	CLCN2_ENST00000434054.2_Silent_p.I167I|CLCN2_ENST00000344937.7_Silent_p.I211I|CLCN2_ENST00000475279.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Silent_p.I211I	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	211					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACATGCTTGCGATATGCACAA	0.637																																																	0								A	,,,	1,4405	822.1+/-416.4	0,1,2202	37	39	38		633,501,633,633	-10	0.6	3		38	1,8599	816.6+/-406.9	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,	211/882,167/855,211/870,211/899	184075627	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.633C>T	3.37:g.184075627G>A			B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.I211	ENST00000265593.4	37	c.633	CCDS3263.1	3																																																																																			CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.637	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0	53	0	G			184075627	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	silent	24.32	56	18	SNP	0.229	A	A	184075627	G	A	184075627	2	1	96	1	0	0	0	0	0	0	0	1	3470	1048	37	1		1	CLCN2	3	184075627	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	635855	184075627	13946803	22	27528											
AFAP1	60312	genome.wustl.edu	37	chr4	7845040	7845040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcttcatcataCgactcataagagctgctcat	9	13	4	15	1	5	1	4	0	1	1	8	2	8	1	3	0	3	2	3	0	2	3	rs151138054	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr4:7845040C>T	ENST00000360265.4	-	4	606	c.372G>A	c.(370-372)tcG>tcA	p.S124S	AFAP1_ENST00000382543.3_Silent_p.S124S|AFAP1_ENST00000358461.2_Silent_p.S124S|AFAP1_ENST00000420658.1_Silent_p.S124S			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	124						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTTCATCATACGACTCATAAG	0.493																																																	0													72	67	69					4																	7845040		2203	4300	6503	SO:0001819	synonymous_variant	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"Pleckstrin homology (PH) domain containing"	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.372G>A	4.37:g.7845040C>T			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S124	ENST00000360265.4	37	c.372	CCDS3397.1	4																																																																																			AFAP1	-	NULL	ENSG00000196526		0.493	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2		0	68	0	C	NM_021638		7845040	-1			no_errors	ENST00000420658	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.119	T	T	7845040	C	T	7845040	2	4	96	1	0	0	0	0	0	0	0	1	353	523	19	1		1	AFAP1	4	7845040	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		7845040	183309236	23	27529											
FIP1L1	81608	genome.wustl.edu	37	chr4	54249970	54249970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaccgaagatgatagtgatAgtgacagcgatgatgatgaa	16	8	13	4	2	0	8	0	6	0	2	0	10	0	8	1	0	1	0	1	0	4	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr4:54249970A>T	ENST00000337488.6	+	5	453	c.259A>T	c.(259-261)Agt>Tgt	p.S87C	FIP1L1_ENST00000510668.1_3'UTR|FIP1L1_ENST00000507922.1_Missense_Mutation_p.S72C|FIP1L1_ENST00000306932.6_Missense_Mutation_p.S72C|FIP1L1_ENST00000507166.1_Missense_Mutation_p.S87C|FIP1L1_ENST00000358575.5_Missense_Mutation_p.S72C	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	87	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with PAPOLA.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			tgatagtgatagtgacagcga	0.318			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0													128	116	120					4																	54249970		2203	4300	6503	SO:0001583	missense	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"FIP1 like 1 (S. cerevisiae)", "FIP1L1 cleavage and polyadenylation specific factor subunit"			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.259A>T	4.37:g.54249970A>T	ENSP00000336752:p.Ser87Cys		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	pfam_Fip1	p.S87C	ENST00000337488.6	37	c.259	CCDS3491.1	4	.	.	.	.	.	.	.	.	.	.	A	23.0	4.361002	0.82353	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.80123	-1.34	4.87	4.87	0.63330	.	0.125324	0.56097	D	0.000038	D	0.86590	0.5969	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	0.998;0.969;0.996;1.0	D;P;P;D	0.70935	0.937;0.73;0.867;0.971	D	0.87967	0.2734	10	0.72032	D	0.01	-15.4006	14.4242	0.67204	1.0:0.0:0.0:0.0	.	72;72;87;72	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	C	87;72;72;72;87	ENSP00000423325:S87C	ENSP00000302993:S72C	S	+	1	0	FIP1L1	53944727	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.250000	0.89835	1.943000	0.56356	0.402000	0.26972	AGT	FIP1L1	-	NULL	ENSG00000145216		0.318	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1	-	0	40	0	A	NM_030917		54249970	1	tier1	-	no_errors	ENST00000337488	ensembl	human	known	74_37	missense	24.39	62	20	SNP	1.000	T	T	54249970	A	T	54249970	3	4	96	1	0	0	0	0	1	0	0	0	5918	420	15	5	277	5	FIP1L1	4	54249970	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	46404930	54249970	136904306	24	27530											
TRIM2	23321	genome.wustl.edu	37	chr4	154191497	154191497	+	5'UTR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgacagcagcagcgtgCagggtcaaagacagccggcc	10	5	14	12	2	2	2	1	1	1	1	2	2	2	2	2	2	5	3	2	2	1	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr4:154191497C>T	ENST00000437508.2	+	0	161				TRIM2_ENST00000338700.5_Missense_Mutation_p.A14V|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2						cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGCAGCGTGCAGGGTCAAAG	0.483																																																	0													91	94	93					4																	154191497		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15974	protein-coding gene	gene with protein product		614141	"tripartite motif-containing 2"			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.-41C>T	4.37:g.154191497C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.A14V	ENST00000437508.2	37	c.41	CCDS47147.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.340164	0.95783	.	.	ENSG00000109654	ENST00000338700	T	0.69806	-0.43	5.78	5.78	0.91487	.	.	.	.	.	T	0.53367	0.1792	N	0.19112	0.55	0.42839	D	0.994044	P	0.41673	0.759	B	0.33960	0.173	T	0.62220	-0.6900	9	0.87932	D	0	.	20.0216	0.97506	0.0:1.0:0.0:0.0	.	14	D3DP09	.	V	14	ENSP00000339659:A14V	ENSP00000339659:A14V	A	+	2	0	TRIM2	154410947	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.390000	0.79816	2.735000	0.93741	0.650000	0.86243	GCA	TRIM2	-	NULL	ENSG00000109654		0.483	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	-	0	51	0	C			154191497	1	tier1	-	no_errors	ENST00000338700	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	154191497	C	T	154191497	1	4	96	0	1	0	0	0	0	0	0	0	16542	710	25	3		3	TRIM2	4	154191497	5'UTR	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	99941527	154191497	36962779	25	27531											
SDHA	6389	genome.wustl.edu	37	chr5	236628	236628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgcctcggtacatggtgCcaaccgcctcggggcaaact	7	8	12	14	3	0	0	0	0	0	0	2	0	0	0	4	4	5	2	4	4	3	1	rs201139275	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:236628C>T	ENST00000264932.6	+	10	1461	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	SDHA_ENST00000510361.1_Missense_Mutation_p.A401V|SDHA_ENST00000504309.1_Missense_Mutation_p.A449V	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	449					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GTACATGGTGCCAACCGCCTC	0.592									Familial Paragangliomas				C|||	9	0.00179712	0.003	0.0014	5008	,	,		17830	0.002		0.001	False		,,,				2504	0.001																0													81	74	77					5																	236628		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"Mitochondrial respiratory chain complex / Complex II"	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.1346C>T	5.37:g.236628C>T	ENSP00000264932:p.Ala449Val		A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.A449V	ENST00000264932.6	37	c.1346	CCDS3853.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	21.6|21.6	4.176378|4.176378	0.78564|0.78564	.|.	.|.	ENSG00000073578|ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361|ENST00000515815	T;T;T|.	0.70986|.	-0.53;-0.53;-0.53|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);|.	0.142014|.	0.46758|.	U|.	0.000265|.	D|D	0.92519|0.92519	0.7624|0.7624	H|H	0.99971|0.99971	5.125|5.125	0.80722|0.80722	D|D	1|1	D;D;P;P;D|.	0.63046|.	0.96;0.992;0.881;0.955;0.99|.	P;P;P;P;P|.	0.54924|.	0.764;0.675;0.448;0.548;0.585|.	D|D	0.96100|0.96100	0.9068|0.9068	10|5	0.87932|.	D|.	0|.	.|.	15.9089|15.9089	0.79456|0.79456	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	401;449;43;449;449|.	E9PBJ5;B4DYN5;B3KYA5;D6RFM5;P31040|.	.;.;.;.;DHSA_HUMAN|.	V|S	449;304;449;401|1	ENSP00000264932:A449V;ENSP00000426514:A449V;ENSP00000427703:A401V|.	ENSP00000264932:A449V|.	A|P	+|+	2|1	0|0	SDHA|SDHA	289628|289628	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.230000|0.230000	0.25150|0.25150	5.793000|5.793000	0.69060|0.69060	2.411000|2.411000	0.81874|0.81874	0.650000|0.650000	0.86243|0.86243	GCC|CCA	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	ENSG00000073578		0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1		0	104	0	C	NM_004168		236628	1			no_errors	ENST00000264932	ensembl	human	known	74_37	missense	5.23	145	8	SNP	1.000	T	T	236628	C	T	236628	3	4	96	1	0	0	0	0	1	0	0	0	14008	739	26	3	1384	3	SDHA	5	236628	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		236628	180678632	26	27532											
DNAH5	1767	genome.wustl.edu	37	chr5	13766149	13766149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcctgccaggagggcatgGtacagcttttttccaggtca	8	12	11	10	0	1	0	1	0	0	0	3	1	3	1	3	4	3	3	3	4	1	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:13766149G>C	ENST00000265104.4	-	59	10141	c.10037C>G	c.(10036-10038)aCc>aGc	p.T3346S	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3346	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGAGGGCATGGTACAGCTTTT	0.483									Kartagener syndrome																																								0													129	125	127					5																	13766149		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10037C>G	5.37:g.13766149G>C	ENSP00000265104:p.Thr3346Ser		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T3346S	ENST00000265104.4	37	c.10037	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022465	0.08006	.	.	ENSG00000039139	ENST00000265104	T	0.56275	0.47	5.63	4.57	0.56435	Dynein heavy chain, coiled coil stalk (1);	0.628315	0.16463	N	0.213346	T	0.41743	0.1172	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12477	-1.0546	10	0.10902	T	0.67	.	15.4795	0.75514	0.0773:0.0:0.9227:0.0	.	3346	Q8TE73	DYH5_HUMAN	S	3346	ENSP00000265104:T3346S	ENSP00000265104:T3346S	T	-	2	0	DNAH5	13819149	0.103000	0.21917	0.010000	0.14722	0.391000	0.30476	1.328000	0.33758	2.660000	0.90430	0.558000	0.71614	ACC	DNAH5	-	NULL	ENSG00000039139		0.483	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	24	0	G	NM_001369		13766149	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.004	C	C	13766149	G	C	13766149	3	2	96	1	0	0	0	0	1	0	0	0	4618	1261	44	5	3921	5	DNAH5	5	13766149	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	13529521	13766149	167149111	27	27533											
C6	729	genome.wustl.edu	37	chr5	41160290	41160290	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagttctcaccataggtGccactctgacacacacacag	12	8	6	15	0	3	1	2	1	2	0	4	1	3	1	2	1	1	1	2	1	1	2	rs202107773		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:41160290G>C	ENST00000263413.3	-	11	1902	c.1638C>G	c.(1636-1638)ggC>ggG	p.G546G	C6_ENST00000337836.5_Silent_p.G546G|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	546	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACCATAGGTGCCACTCTGAC	0.463																																																	0													155	148	150					5																	41160290		2203	4300	6503	SO:0001819	synonymous_variant	0			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"Complement system"	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1638C>G	5.37:g.41160290G>C				Silent	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt	p.G546	ENST00000263413.3	37	c.1638	CCDS3936.1	5																																																																																			C6	-	NULL	ENSG00000039537		0.463	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	-	0	69	0	G			41160290	-1	tier1	-	no_errors	ENST00000263413	ensembl	human	known	74_37	silent	13.48	77	12	SNP	0.828	C	C	41160290	G	C	41160290	2	2	96	1	0	0	0	0	0	0	0	1	2322	1306	46	5		5	C6	5	41160290	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	27394141	41160290	139754970	28	27534											
ITGA2	3673	genome.wustl.edu	37	chr5	52370296	52370296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggctaccctgctttaaagAgagaacaacaggtacaactt	15	9	8	9	0	0	2	0	0	0	2	0	3	0	2	1	2	6	3	1	2	8	6			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:52370296A>G	ENST00000296585.5	+	21	2796	c.2653A>G	c.(2653-2655)Aga>Gga	p.R885G		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	885					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGCTTTAAAGAGAGAACAACA	0.433																																																	0													169	139	149					5																	52370296		2203	4300	6503	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"CD molecules", "Integrins"	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2653A>G	5.37:g.52370296A>G	ENSP00000296585:p.Arg885Gly		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.R885G	ENST00000296585.5	37	c.2653	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	A	2.307	-0.358878	0.05138	.	.	ENSG00000164171	ENST00000296585	T	0.53206	0.63	5.01	2.48	0.30137	Integrin alpha-2 (1);	1.250090	0.05043	N	0.476690	T	0.36386	0.0965	L	0.29908	0.895	0.09310	N	1	B;B	0.19331	0.001;0.035	B;B	0.21708	0.005;0.036	T	0.24905	-1.0147	10	0.25106	T	0.35	.	6.3943	0.21603	0.616:0.3058:0.0782:0.0	.	885;885	E7ESP4;P17301	.;ITA2_HUMAN	G	885	ENSP00000296585:R885G	ENSP00000296585:R885G	R	+	1	2	ITGA2	52406053	0.499000	0.26083	0.126000	0.21872	0.178000	0.23041	1.121000	0.31283	0.411000	0.25702	0.528000	0.53228	AGA	ITGA2	-	pfam_Integrin_alpha-2	ENSG00000164171		0.433	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	-	0	43	0	A	NM_002203		52370296	1	tier1	-	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	48.94	24	23	SNP	0.115	G	G	52370296	A	G	52370296	3	3	96	1	0	0	0	0	1	0	0	0	7902	296	11	4	2735	4	ITGA2	5	52370296	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	11210006	52370296	128544964	29	27535											
SLC30A5	64924	genome.wustl.edu	37	chr5	68396658	68396658	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaatatattgtgttactAtgtttcactaaatttttgaa	15	18	4	4	0	1	1	1	1	0	0	1	1	1	1	0	0	1	2	0	0	9	9			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:68396658A>G	ENST00000396591.3	+	2	718	c.108A>G	c.(106-108)ctA>ctG	p.L36L	SLC30A5_ENST00000502979.1_Intron|SLC30A5_ENST00000380860.4_Silent_p.L36L	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	36					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTGTGTTACTATGTTTCACTA	0.284																																																	0													55	57	57					5																	68396658		2203	4295	6498	SO:0001819	synonymous_variant	0			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"Solute carriers"	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.108A>G	5.37:g.68396658A>G			B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.L36	ENST00000396591.3	37	c.108	CCDS3996.1	5																																																																																			SLC30A5	-	NULL	ENSG00000145740		0.284	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	-	0	25	0	A			68396658	1	tier1	-	no_errors	ENST00000396591	ensembl	human	known	74_37	silent	61.54	10	16	SNP	0.435	G	G	68396658	A	G	68396658	2	3	96	1	0	0	0	0	0	0	0	1	14603	436	16	4		4	SLC30A5	5	68396658	Silent	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	16026362	68396658	112518602	30	27536											
TSSK1B	83942	genome.wustl.edu	37	chr5	112769894	112769894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgttggagtcgtcgtaggGcatggagccgcagaccatga	9	8	16	8	3	0	2	0	1	0	1	2	5	0	4	2	3	1	4	2	3	1	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:112769894G>A	ENST00000390666.3	-	1	834	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	CTD-2201G3.1_ENST00000383058.4_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000510381.2_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TCGTCGTAGGGCATGGAGCCG	0.592																																																	0													70	65	67					5																	112769894		2202	4300	6502	SO:0001583	missense	0			AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"serine/threonine kinase 22D (spermiogenesis associated)", "testis-specific serine kinase 1"	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.643C>T	5.37:g.112769894G>A	ENSP00000375081:p.Pro215Ser		B2R8D9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P215S	ENST00000390666.3	37	c.643	CCDS4112.1	5	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599638	0.46318	.	.	ENSG00000212122	ENST00000390666	T	0.39787	1.06	1.24	1.24	0.21308	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.34338	U	0.004058	T	0.70710	0.3255	H	0.96604	3.85	0.33718	D	0.616669	D	0.89917	1.0	D	0.97110	1.0	T	0.78280	-0.2265	10	0.87932	D	0	.	7.9215	0.29848	0.0:0.0:1.0:0.0	.	215	Q9BXA7	TSSK1_HUMAN	S	215	ENSP00000375081:P215S	ENSP00000375081:P215S	P	-	1	0	TSSK1B	112797793	1.000000	0.71417	0.820000	0.32676	0.550000	0.35303	6.647000	0.74354	0.635000	0.30488	0.313000	0.20887	CCC	TSSK1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000212122		0.592	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK1B	HGNC	protein_coding	OTTHUMT00000250774.2		0	34	0	G	NM_032028		112769894	-1			no_errors	ENST00000390666	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	112769894	G	A	112769894	3	1	96	1	0	0	0	0	1	0	0	0	16716	1203	42	3	464	3	TSSK1B	5	112769894	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	44373236	112769894	68145366	31	27537											
APBB3	10307	genome.wustl.edu	37	chr5	139941700	139941700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaccggcccttggagctcCccacgccccacacacggatg	7	5	9	20	3	1	0	1	0	0	0	2	2	2	2	6	3	1	1	6	3	0	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:139941700C>T	ENST00000357560.4	-	6	1054	c.611G>A	c.(610-612)gGg>gAg	p.G204E	APBB3_ENST00000354402.5_Missense_Mutation_p.G204E|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000511201.2_Missense_Mutation_p.G204E|APBB3_ENST00000412920.3_Missense_Mutation_p.G204E|SLC35A4_ENST00000514199.1_5'Flank|APBB3_ENST00000356738.2_Missense_Mutation_p.G204E|SLC35A4_ENST00000323146.3_5'Flank|APBB3_ENST00000358580.5_Missense_Mutation_p.G204E|APBB3_ENST00000508496.2_5'UTR	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	204	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGAGCTCCCCACGCCCCA	0.597																																																	0													68	66	66					5																	139941700		2203	4300	6503	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.611G>A	5.37:g.139941700C>T	ENSP00000350171:p.Gly204Glu		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.G204E	ENST00000357560.4	37	c.611	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425732	0.83667	.	.	ENSG00000113108	ENST00000358580;ENST00000356738;ENST00000354402;ENST00000357560;ENST00000412920;ENST00000511201	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;2.22;2.22	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65315	-0.6198	9	.	.	.	-21.2082	19.773	0.96379	0.0:1.0:0.0:0.0	.	204;204	O95704-2;O95704-3	.;.	E	204	ENSP00000351389:G204E;ENSP00000349177:G204E;ENSP00000346378:G204E;ENSP00000350171:G204E;ENSP00000402591:G204E;ENSP00000424317:G204E	.	G	-	2	0	APBB3	139921884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.677000	0.91161	0.655000	0.94253	GGG	APBB3	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000113108		0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	-	0	26	0	C	NM_006051		139941700	-1	tier1	-	no_errors	ENST00000356738	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	T	T	139941700	C	T	139941700	3	4	96	1	0	0	0	0	1	0	0	0	762	623	22	3	898	3	APBB3	5	139941700	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	27171806	139941700	40973560	32	27538											
PCDHB11	56125	genome.wustl.edu	37	chr5	140580326	140580326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccacagatgggggaggaCtttttggaaaatctacagtc	13	9	12	7	0	1	1	0	0	1	1	2	4	1	4	1	4	2	0	1	4	4	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:140580326C>T	ENST00000354757.3	+	1	979	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	327	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGGGAGGACTTTTTGGAAA	0.363																																																	0													87	88	88					5																	140580326		2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.979C>T	5.37:g.140580326C>T	ENSP00000346802:p.Leu327Phe		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L327F	ENST00000354757.3	37	c.979	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536010	0.64972	.	.	ENSG00000197479	ENST00000354757;ENST00000536825	T	0.01804	4.63	2.7	1.79	0.24919	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05777	0.0151	M	0.69248	2.105	0.80722	D	1	P	0.50710	0.938	P	0.62885	0.908	T	0.32981	-0.9886	9	0.52906	T	0.07	.	5.0418	0.14463	0.2088:0.6764:0.0:0.1147	.	327	Q9Y5F2	PCDBB_HUMAN	F	327;17	ENSP00000346802:L327F	ENSP00000346802:L327F	L	+	1	0	PCDHB11	140560510	0.000000	0.05858	0.304000	0.25085	0.828000	0.46876	0.814000	0.27239	0.432000	0.26286	0.467000	0.42956	CTT	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000197479		0.363	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1		0	30	0	C	NM_018931		140580326	1			no_errors	ENST00000354757	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.881	T	T	140580326	C	T	140580326	3	4	96	1	0	0	0	0	1	0	0	0	11575	565	20	3	981	3	PCDHB11	5	140580326	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	638626	140580326	40334934	33	27539											
HDAC3	8841	genome.wustl.edu	37	chr5	141008140	141008140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acttactctggtcatcaatgCcatcccgcaggggcacgttc	8	10	9	14	2	3	0	2	0	1	0	5	0	4	0	2	3	2	3	2	3	2	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:141008140C>T	ENST00000305264.3	-	8	756	c.677G>A	c.(676-678)gGc>gAc	p.G226D	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	226	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GTCATCAATGCCATCCCGCAG	0.527																																																	0													120	101	108					5																	141008140		2203	4300	6503	SO:0001583	missense	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.677G>A	5.37:g.141008140C>T	ENSP00000302967:p.Gly226Asp		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.G226D	ENST00000305264.3	37	c.677	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823625	0.90873	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	T;T	0.78246	-1.16;1.19	5.96	5.96	0.96718	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.91482	0.7311	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92425	0.5949	10	0.72032	D	0.01	-28.1684	19.989	0.97359	0.0:1.0:0.0:0.0	.	226	O15379	HDAC3_HUMAN	D	226;151	ENSP00000302967:G226D;ENSP00000429099:G151D	ENSP00000302967:G226D	G	-	2	0	HDAC3	140988324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.794000	0.85869	2.830000	0.97506	0.585000	0.79938	GGC	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000171720		0.527	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	-	0	39	0	C	NM_003883		141008140	-1	tier1	-	no_errors	ENST00000305264	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	141008140	C	T	141008140	3	4	96	1	0	0	0	0	1	0	0	0	7035	739	26	3	641	3	HDAC3	5	141008140	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	427814	141008140	39907120	34	27540											
FAT2	2196	genome.wustl.edu	37	chr5	150923097	150923097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggccattggggtttaTggagaacttctcacttgcta	9	14	10	8	0	2	1	1	0	2	1	3	2	2	1	1	4	2	2	1	4	4	6			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:150923097T>C	ENST00000261800.5	-	9	7603	c.7591A>G	c.(7591-7593)Ata>Gta	p.I2531V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2531	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGGGTTTATGGAGAACTTC	0.433																																																	0													143	146	145					5																	150923097		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7591A>G	5.37:g.150923097T>C	ENSP00000261800:p.Ile2531Val		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.I2531V	ENST00000261800.5	37	c.7591	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	T	11.03	1.518556	0.27211	.	.	ENSG00000086570	ENST00000261800	T	0.58506	0.33	5.34	4.19	0.49359	Cadherin (4);Cadherin-like (1);	0.084928	0.50627	D	0.000106	T	0.39911	0.1096	N	0.21448	0.665	0.50467	D	0.999877	P	0.39443	0.674	B	0.36418	0.224	T	0.30504	-0.9976	10	0.33940	T	0.23	.	10.5653	0.45169	0.0:0.0755:0.0:0.9245	.	2531	Q9NYQ8	FAT2_HUMAN	V	2531	ENSP00000261800:I2531V	ENSP00000261800:I2531V	I	-	1	0	FAT2	150903290	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.044000	0.64214	2.021000	0.59480	0.379000	0.24179	ATA	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.433	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0	41	0	T	NM_001447		150923097	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	62.50	18	30	SNP	1.000	C	C	150923097	T	C	150923097	3	2	96	1	0	0	0	0	1	0	0	0	5712	1464	51	4	5518	4	FAT2	5	150923097	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	9914957	150923097	29992163	35	27541											
EBF1	1879	genome.wustl.edu	37	chr5	158158087	158158087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcctcacctttggcaaaCgctcagggtcaccagggtgc	8	9	11	13	1	3	0	3	0	0	0	4	0	4	0	3	3	2	3	3	3	2	2	rs200547458		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:158158087C>T	ENST00000313708.6	-	11	1397	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	EBF1_ENST00000517373.1_Missense_Mutation_p.R364H|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R341H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	372					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGGCAAACGCTCAGGGTC	0.448			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	61	61	61		1115	5.5	1	5		61	0,8600		0,0,4300	no	missense	EBF1	NM_024007.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	372/592	158158087	1,13005	2203	4300	6503	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"early B-cell factor"	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1115G>A	5.37:g.158158087C>T	ENSP00000322898:p.Arg372His		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.R372H	ENST00000313708.6	37	c.1115	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.693244	0.96793	2.27E-4	0.0	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	D;D;D	0.89415	-2.51;-2.51;-2.51	5.51	5.51	0.81932	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94476	0.8222	M	0.83384	2.64	0.58432	D	0.999998	D;D;D;D	0.89917	0.998;0.998;0.999;1.0	P;P;P;P	0.61275	0.73;0.481;0.73;0.886	D	0.94757	0.7932	10	0.87932	D	0	-3.5319	19.7818	0.96418	0.0:1.0:0.0:0.0	.	372;359;372;341	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	H	372;372;341;364	ENSP00000322898:R372H;ENSP00000370029:R341H;ENSP00000428020:R364H	ENSP00000322898:R372H	R	-	2	0	EBF1	158090665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.736000	0.93811	0.655000	0.94253	CGT	EBF1	-	superfamily_bHLH_dom	ENSG00000164330		0.448	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0	32	0	C	NM_024007		158158087	-1	tier1	rs200547458	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	T	T	158158087	C	T	158158087	3	4	96	1	0	0	0	0	1	0	0	0	4894	536	19	1	684	1	EBF1	5	158158087	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	7234990	158158087	22757173	36	27542											
RUFY1	80230	genome.wustl.edu	37	chr5	179004112	179004112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctctaccttaaggatGtgcaggatcttgatggtggc	7	14	11	9	0	2	1	0	1	2	0	3	3	3	3	2	4	2	1	2	4	2	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr5:179004112G>T	ENST00000319449.4	+	6	877	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	RUFY1_ENST00000393438.2_Missense_Mutation_p.V181L|RUFY1_ENST00000377001.2_Missense_Mutation_p.V289L|RUFY1_ENST00000437570.2_Missense_Mutation_p.V181L	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	289					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTTAAGGATGTGCAGGATCT	0.313										HNSCC(44;0.11)																																							0													223	205	211					5																	179004112		2203	4300	6503	SO:0001583	missense	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.865G>T	5.37:g.179004112G>T	ENSP00000325594:p.Val289Leu		Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING	p.V289L	ENST00000319449.4	37	c.865	CCDS4445.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.535|6.535	0.467052|0.467052	0.12402|0.12402	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000508609|ENST00000319449;ENST00000377001;ENST00000437570;ENST00000393438	.|T;T;T;T	.|0.51071	.|0.72;1.94;0.74;0.74	5.58|5.58	4.71|4.71	0.59529|0.59529	.|.	.|0.692560	.|0.15003	.|N	.|0.286019	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.14117|0.14117	-1.0484|-1.0484	5|10	.|0.30078	.|T	.|0.28	-11.0751|-11.0751	9.6032|9.6032	0.39617|0.39617	0.2012:0.0:0.7988:0.0|0.2012:0.0:0.7988:0.0	.|.	.|289	.|Q96T51	.|RUFY1_HUMAN	I|L	99|289;289;181;181	.|ENSP00000325594:V289L;ENSP00000366200:V289L;ENSP00000390025:V181L;ENSP00000377087:V181L	.|ENSP00000325594:V289L	M|V	+|+	3|1	0|0	RUFY1|RUFY1	178936718|178936718	0.005000|0.005000	0.15991|0.15991	0.925000|0.925000	0.36789|0.36789	0.967000|0.967000	0.64934|0.64934	0.800000|0.800000	0.27042|0.27042	1.367000|1.367000	0.46095|0.46095	0.645000|0.645000	0.84053|0.84053	ATG|GTG	RUFY1	-	NULL	ENSG00000176783		0.313	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	HGNC	protein_coding	OTTHUMT00000253505.2		0	53	0	G	NM_001040451		179004112	1			no_errors	ENST00000319449	ensembl	human	known	74_37	missense	7.50	74	6	SNP	0.360	T	T	179004112	G	T	179004112	3	4	96	1	0	0	0	0	1	0	0	0	13783	1377	48	3	887	3	RUFY1	5	179004112	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	20846025	179004112	1911148	37	27543											
DDR1	780	genome.wustl.edu	37	chr6	30862388	30862388	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagagccacccccgtacCaggagccccggcctcgtggg	7	4	13	17	3	0	1	0	0	0	1	1	3	0	2	7	3	3	1	7	3	2	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:30862388C>T	ENST00000324771.8	+	13	2001	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	DDR1_ENST00000376568.3_Nonsense_Mutation_p.Q485*|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376567.2_Nonsense_Mutation_p.Q485*|DDR1_ENST00000508312.1_Nonsense_Mutation_p.Q503*|DDR1_ENST00000418800.2_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376570.4_Nonsense_Mutation_p.Q485*|DDR1_ENST00000361741.4_Silent_p.T188T|DDR1_ENST00000454612.2_Nonsense_Mutation_p.Q485*|DDR1_ENST00000513240.1_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376569.3_Nonsense_Mutation_p.Q485*|DDR1_ENST00000376575.3_Nonsense_Mutation_p.Q485*			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	485	Gly/Pro-rich.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACCCCCGTACCAGGAGCCCCG	0.622																																																	0													96	95	95					6																	30862388		2203	4300	6503	SO:0001587	stop_gained	0			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1453C>T	6.37:g.30862388C>T	ENSP00000318217:p.Gln485*		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q485*	ENST00000324771.8	37	c.1453	CCDS34385.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.714287|9.714287	0.99245|0.99245	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000514434|ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	.|0.226724	.|0.37623	.|N	.|0.002007	T|.	0.46502|.	0.1396|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36456|.	-0.9747|.	4|.	.|0.21540	.|T	.|0.41	.|.	13.0234|13.0234	0.58802|0.58802	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	13|485;485;485;485;485;485;485;485;503;485;485	.|.	.|ENSP00000318217:Q485X	P|Q	+|+	2|1	0|0	DDR1|DDR1	30970367|30970367	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	5.623000|5.623000	0.67757|0.67757	2.459000|2.459000	0.83118|0.83118	0.552000|0.552000	0.68991|0.68991	CCA|CAG	DDR1	-	NULL	ENSG00000204580		0.622	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	-	0	43	0	C	NM_013994		30862388	1	tier1	-	no_errors	ENST00000376575	ensembl	human	known	74_37	nonsense	32.89	51	25	SNP	1.000	T	T	30862388	C	T	30862388	4	4	96	1	0	0	0	0	0	1	0	0	4345	595	21	3	1491	3	DDR1	6	30862388	Nonsense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		30862388	140252679	38	27544											
DNAH8	1769	genome.wustl.edu	37	chr6	38743675	38743675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctggatccaagaaggaCagaatttgacacagatttct	14	11	8	8	0	2	4	0	1	2	3	3	6	3	6	1	2	0	0	1	2	3	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:38743675C>G	ENST00000359357.3	+	11	1513	c.1259C>G	c.(1258-1260)aCa>aGa	p.T420R	DNAH8_ENST00000441566.1_Missense_Mutation_p.T420R|DNAH8_ENST00000449981.2_Missense_Mutation_p.T637R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	420					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCAAGAAGGACAGAATTTGAC	0.303																																																	0													89	104	99					6																	38743675		2202	4282	6484	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1259C>G	6.37:g.38743675C>G	ENSP00000352312:p.Thr420Arg		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T420R	ENST00000359357.3	37	c.1259		6	.	.	.	.	.	.	.	.	.	.	C	8.469	0.857086	0.17106	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.55930	0.49;0.49;0.49	5.93	5.07	0.68467	Dynein heavy chain, domain-1 (1);	0.189361	0.44285	D	0.000475	T	0.19366	0.0465	N	0.11870	0.19	0.42755	D	0.993789	B	0.16603	0.018	B	0.25405	0.06	T	0.07673	-1.0760	10	0.24483	T	0.36	.	13.1004	0.59216	0.0:0.9257:0.0:0.0743	.	420	Q96JB1	DYH8_HUMAN	R	625;625;420;420	ENSP00000333363:T625R;ENSP00000352312:T420R;ENSP00000402294:T420R	ENSP00000333363:T625R	T	+	2	0	DNAH8	38851653	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.417000	0.52714	1.529000	0.49120	0.655000	0.94253	ACA	DNAH8	-	pfam_Dynein_heavy_dom-1	ENSG00000124721		0.303	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	31	0	C	NM_001206927		38743675	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	7.84	46	4	SNP	1.000	G	G	38743675	C	G	38743675	3	3	96	1	0	0	0	0	1	0	0	0	4621	478	17	5	1293	5	DNAH8	6	38743675	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	7881287	38743675	132371392	39	27545											
SMAP1	60682	genome.wustl.edu	37	chr6	71508370	71508370	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttagaaagaaaaggAaaaaaaaaaggaagagaaaa	25	6	10	0	0	0	3	0	0	0	3	0	6	0	5	0	2	0	1	0	2	12	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:71508370A>G	ENST00000370455.3	+	6	754	c.506A>G	c.(505-507)gAa>gGa	p.E169G	SMAP1_ENST00000316999.5_Missense_Mutation_p.E142G|SMAP1_ENST00000370452.3_Missense_Mutation_p.E142G	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																																	1	Deletion - Frameshift(1)	prostate(1)											23	28	26					6																	71508370		2184	4254	6438	SO:0001583	missense	0			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"ADP-ribosylation factor GTPase activating proteins"	19651	protein-coding gene	gene with protein product		611372	"stromal membrane-associated protein 1", "stromal membrane-associated GTPase-activating protein 1"			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506A>G	6.37:g.71508370A>G	ENSP00000359484:p.Glu169Gly		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.E169G	ENST00000370455.3	37	c.506	CCDS43478.1	6	.	.	.	.	.	.	.	.	.	.	A	15.22	2.767411	0.49574	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000370442	T;T;T	0.25085	1.95;1.95;1.82	5.28	5.28	0.74379	.	1.391060	0.04311	N	0.348914	T	0.34687	0.0906	L	0.40543	1.245	0.80722	D	1	P;D;D;B	0.76494	0.483;0.999;0.999;0.003	B;D;D;B	0.83275	0.084;0.996;0.996;0.003	T	0.00565	-1.1668	10	0.40728	T	0.16	-21.4582	13.4919	0.61399	1.0:0.0:0.0:0.0	.	169;142;142;169	A8K333;Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;.;SMAP1_HUMAN	G	142;142;169;81	ENSP00000359481:E142G;ENSP00000313382:E142G;ENSP00000359484:E169G	ENSP00000313382:E142G	E	+	2	0	SMAP1	71565091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.925000	0.63425	2.126000	0.65437	0.529000	0.55759	GAA	SMAP1	-	NULL	ENSG00000112305		0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1		0	18	0	A	NM_001044305		71508370	1			no_errors	ENST00000370455	ensembl	human	known	74_37	missense	5.45	51	3	SNP	1.000	G	G	71508370	A	G	71508370	3	3	96	1	0	0	0	0	1	0	0	0	14811	246	9	4	528	4	SMAP1	6	71508370	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	32764695	71508370	99606697	40	27546											
CD109	135228	genome.wustl.edu	37	chr6	74446224	74446224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactggtctattcaagttcAagtgaatgtgagtataaata	14	14	9	4	0	3	3	2	3	1	0	3	3	3	3	0	1	0	2	0	1	8	6			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:74446224A>G	ENST00000287097.5	+	5	738	c.626A>G	c.(625-627)cAa>cGa	p.Q209R	CD109_ENST00000437994.2_Missense_Mutation_p.Q209R|CD109_ENST00000422508.2_Missense_Mutation_p.Q132R			Q6YHK3	CD109_HUMAN	CD109 molecule	209					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCAAGTTCAAGTGAATGTG	0.363																																																	0													129	139	135					6																	74446224		2203	4300	6503	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.626A>G	6.37:g.74446224A>G	ENSP00000287097:p.Gln209Arg		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.Q209R	ENST00000287097.5	37	c.626	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583403	0.28268	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.73047	-0.71;-0.71;-0.71	4.65	3.51	0.40186	Alpha-2-macroglobulin, N-terminal (1);	1.547870	0.04423	U	0.367959	T	0.41096	0.1144	L	0.27053	0.805	0.27765	N	0.943695	B;B;B;B	0.10296	0.003;0.001;0.001;0.0	B;B;B;B	0.11329	0.002;0.002;0.003;0.006	T	0.21075	-1.0256	10	0.31617	T	0.26	.	9.6861	0.40100	0.9113:0.0:0.0887:0.0	.	132;209;209;209	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	R	209;132;209	ENSP00000388062:Q209R;ENSP00000404475:Q132R;ENSP00000287097:Q209R	ENSP00000287097:Q209R	Q	+	2	0	CD109	74502945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.071000	0.50041	2.064000	0.61679	0.482000	0.46254	CAA	CD109	-	pfam_A2M_N	ENSG00000156535		0.363	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3		0	23	0	A	NM_133493		74446224	1			no_errors	ENST00000287097	ensembl	human	known	74_37	missense	14.29	30	5	SNP	1.000	G	G	74446224	A	G	74446224	3	3	96	1	0	0	0	0	1	0	0	0	2970	130	5	4	644	4	CD109	6	74446224	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	2937854	74446224	96668843	41	27547											
MAP3K5	4217	genome.wustl.edu	37	chr6	137041712	137041712	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaaggcatcgctcatcTccaccaccgcaatatctgca	10	7	8	16	3	3	0	1	0	2	0	5	1	3	1	4	2	1	4	4	2	3	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:137041712T>A	ENST00000359015.4	-	2	824	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	155					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATCGCTCATCTCCACCACCGC	0.443																																																	0													131	108	116					6																	137041712		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6857	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 1"	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.464A>T	6.37:g.137041712T>A	ENSP00000351908:p.Glu155Val		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E155V	ENST00000359015.4	37	c.464	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	T	27.0	4.789243	0.90367	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72942	-0.7	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.81293	-0.0998	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	155	Q99683	M3K5_HUMAN	V	155;235	ENSP00000351908:E155V	ENSP00000351908:E155V	E	-	2	0	MAP3K5	137083405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.270000	0.75569	0.482000	0.46254	GAG	MAP3K5	-	NULL	ENSG00000197442		0.443	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0	49	0	T			137041712	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	24.71	64	21	SNP	1.000	A	A	137041712	T	A	137041712	3	1	96	1	0	0	0	0	1	0	0	0	9291	1551	54	5	3776	5	MAP3K5	6	137041712	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	62595488	137041712	34073355	42	27548											
STXBP5	134957	genome.wustl.edu	37	chr6	147583481	147583481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtgataatccaatggacGagggaaaggtagaatttttt	15	12	11	3	1	0	2	0	1	0	1	1	5	1	4	1	3	0	1	1	3	6	6	rs367614502		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:147583481G>A	ENST00000321680.6	+	6	622	c.622G>A	c.(622-624)Gag>Aag	p.E208K	STXBP5_ENST00000367480.3_Missense_Mutation_p.E208K|STXBP5_ENST00000179882.6_5'UTR|STXBP5_ENST00000546097.1_Missense_Mutation_p.E208K|STXBP5_ENST00000367481.3_Missense_Mutation_p.E208K	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	208					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.E208K(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TCCAATGGACGAGGGAAAGGT	0.284													G|||	1	0.000199681	0	0	5008	,	,		12301	0		0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)						G	LYS/GLU,LYS/GLU	1,4377		0,1,2188	22	23	23		622,622	5.2	1	6		23	0,8546		0,0,4273	no	missense,missense	STXBP5	NM_001127715.2,NM_139244.4	56,56	0,1,6461	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging	208/1152,208/1116	147583481	1,12923	2189	4273	6462	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.622G>A	6.37:g.147583481G>A	ENSP00000321826:p.Glu208Lys		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.E208K	ENST00000321680.6	37	c.622	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868282	0.91587	2.28E-4	0.0	ENSG00000164506	ENST00000367481;ENST00000546097;ENST00000321680;ENST00000367480	T;T;T;T	0.64085	1.56;4.99;1.56;-0.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65048	0.2654	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.911	T	0.60291	-0.7292	10	0.08179	T	0.78	.	18.6689	0.91502	0.0:0.0:1.0:0.0	.	208;208	Q5T5C0-2;Q5T5C0	.;STXB5_HUMAN	K	208	ENSP00000356451:E208K;ENSP00000441479:E208K;ENSP00000321826:E208K;ENSP00000356450:E208K	ENSP00000321826:E208K	E	+	1	0	STXBP5	147625174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.392000	0.97252	2.583000	0.87209	0.655000	0.94253	GAG	STXBP5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000164506		0.284	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0	58	0	G			147583481	1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	21.69	65	18	SNP	1.000	A	A	147583481	G	A	147583481	3	1	96	1	0	0	0	0	1	0	0	0	15403	1059	37	1	644	1	STXBP5	6	147583481	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	10541769	147583481	23531586	43	27549											
THBS2	7058	genome.wustl.edu	37	chr6	169622459	169622459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcaccacatagaagcGgctgcttgactggtaaccaa	13	7	8	13	1	1	2	1	1	0	1	1	2	1	2	3	2	3	3	3	2	4	3	rs138017175		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr6:169622459G>A	ENST00000366787.3	-	20	3355	c.3106C>T	c.(3106-3108)Cgc>Tgc	p.R1036C	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1036	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACATAGAAGCGGCTGCTTGAC	0.572																																					Esophageal Squamous(91;219 1934 18562 44706)												0								G	CYS/ARG	0,4406		0,0,2203	71	63	66		3106	2.3	1	6	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	missense	THBS2	NM_003247.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1036/1173	169622459	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.3106C>T	6.37:g.169622459G>A	ENSP00000355751:p.Arg1036Cys		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.R1036C	ENST00000366787.3	37	c.3106	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160296	0.57368	0.0	1.16E-4	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.95554	-3.74	4.32	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.41294	U	0.000901	D	0.96262	0.8781	M	0.73962	2.25	0.53005	D	0.999963	D	0.89917	1.0	D	0.80764	0.994	D	0.96033	0.9018	10	0.87932	D	0	-40.6879	11.5045	0.50456	0.0:0.0:0.4817:0.5183	.	1036	P35442	TSP2_HUMAN	C	1036;294	ENSP00000355751:R1036C	ENSP00000355751:R1036C	R	-	1	0	THBS2	169364384	1.000000	0.71417	0.999000	0.59377	0.591000	0.36615	4.111000	0.57838	0.713000	0.32060	0.297000	0.19635	CGC	THBS2	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000186340		0.572	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1	-	0	51	0	G	NM_003247		169622459	-1	tier1	rs138017175	no_errors	ENST00000366787	ensembl	human	known	74_37	missense	21.88	50	14	SNP	1.000	A	A	169622459	G	A	169622459	3	1	96	1	0	0	0	0	1	0	0	0	15901	1116	39	1	428	1	THBS2	6	169622459	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	22038978	169622459	1492608	44	27550											
HOXA10	3206	genome.wustl.edu	37	chr7	27213291	27213291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgagaaaggcggaagtagCcaggcactggcaccccgctg	10	4	14	13	2	0	1	0	1	0	1	0	3	0	2	4	4	1	4	4	4	3	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr7:27213291C>T	ENST00000283921.4	-	1	634	c.635G>A	c.(634-636)gGc>gAc	p.G212D	HOXA-AS4_ENST00000523790.1_RNA|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519694.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000396344.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	212					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GCGGAAGTAGCCAGGCACTGG	0.761																																																	0													4	4	4					7																	27213291		1980	3858	5838	SO:0001583	missense	0				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"Homeoboxes / ANTP class : HOXL subclass"	5100	protein-coding gene	gene with protein product		142957	"homeo box A10"	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.635G>A	7.37:g.27213291C>T	ENSP00000283921:p.Gly212Asp		O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G212D	ENST00000283921.4	37	c.635	CCDS5410.2	7	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679627	0.68042	.	.	ENSG00000253293	ENST00000283921	T	0.58652	0.32	4.46	4.46	0.54185	.	3.605110	0.00792	N	0.001344	D	0.84009	0.5378	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68815	-0.5309	10	0.87932	D	0	.	17.1898	0.86876	0.0:1.0:0.0:0.0	.	212	P31260	HXA10_HUMAN	D	212	ENSP00000283921:G212D	ENSP00000283921:G212D	G	-	2	0	HOXA10	27179816	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.126000	0.77201	2.047000	0.60756	0.485000	0.47835	GGC	HOXA10	-	NULL	ENSG00000253293		0.761	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA10	HGNC	protein_coding	OTTHUMT00000358724.2	-	0	35	0	C			27213291	-1	tier1	-	no_errors	ENST00000283921	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	T	T	27213291	C	T	27213291	3	4	96	1	0	0	0	0	1	0	0	0	7316	739	26	3	605	3	HOXA10	7	27213291	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		27213291	131925372	45	27551											
ZNF107	51427	genome.wustl.edu	37	chr7	64168085	64168085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatactggagagaaaccctAtaaatgtgaggaatgtggca	15	9	11	6	0	1	2	1	1	0	1	1	5	1	4	1	3	2	1	1	3	6	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr7:64168085A>T	ENST00000395391.1	+	4	2778	c.1403A>T	c.(1402-1404)tAt>tTt	p.Y468F	ZNF107_ENST00000423627.1_Missense_Mutation_p.Y468F|ZNF107_ENST00000344930.3_Missense_Mutation_p.Y468F			Q9UII5	ZN107_HUMAN	zinc finger protein 107	468					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAAACCCTATAAATGTGAG	0.363																																																	0													26	28	27					7																	64168085		2200	4292	6492	SO:0001583	missense	0			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"Zinc fingers, C2H2-type"	12887	protein-coding gene	gene with protein product		603989	"zinc finger protein 588", "zinc finger protein 107 (Y8)"	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1403A>T	7.37:g.64168085A>T	ENSP00000378789:p.Tyr468Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y468F	ENST00000395391.1	37	c.1403	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	12.86	2.065146	0.36470	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.18338	2.22;2.22;2.22	1.27	-0.836	0.10770	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.20328	0.56	0.09310	N	1	P	0.43885	0.82	P	0.48873	0.593	T	0.25257	-1.0137	8	.	.	.	.	3.6122	0.08065	0.4362:0.0:0.0:0.5638	.	468	Q9UII5	ZN107_HUMAN	F	468	ENSP00000343443:Y468F;ENSP00000400037:Y468F;ENSP00000378789:Y468F	.	Y	+	2	0	ZNF107	63805520	0.000000	0.05858	0.192000	0.23308	0.375000	0.29983	-0.780000	0.04654	0.530000	0.28619	0.260000	0.18958	TAT	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196247		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	-	0	22	0	A	NM_016220		64168085	1	tier1	-	no_errors	ENST00000344930	ensembl	human	known	74_37	missense	50.00	20	20	SNP	0.082	T	T	64168085	A	T	64168085	3	4	96	1	0	0	0	0	1	0	0	0	17763	449	16	5	1409	5	ZNF107	7	64168085	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	36954794	64168085	94970578	46	27552											
PCLO	27445	genome.wustl.edu	37	chr7	82785098	82785098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgattctccccttactatgtCtgcctgtttagtctgaggcc	5	16	8	12	0	3	2	0	2	3	0	4	2	3	2	4	1	2	1	4	1	3	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr7:82785098C>G	ENST00000333891.9	-	2	1196	c.859G>C	c.(859-861)Gac>Cac	p.D287H	PCLO_ENST00000423517.2_Missense_Mutation_p.D287H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTACTATGTCTGCCTGTTTA	0.507																																																	0													121	111	114					7																	82785098		2075	4210	6285	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.859G>C	7.37:g.82785098C>G	ENSP00000334319:p.Asp287His			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.D287H	ENST00000333891.9	37	c.859	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698546	0.30142	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.20881	2.04;2.05	5.26	5.26	0.73747	.	.	.	.	.	T	0.35740	0.0942	L	0.43152	1.355	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.58873	0.847;0.847	T	0.06481	-1.0824	9	0.87932	D	0	.	16.6667	0.85254	0.0:1.0:0.0:0.0	.	287;287	Q9Y6V0-5;Q9Y6V0-6	.;.	H	287	ENSP00000334319:D287H;ENSP00000388393:D287H	ENSP00000334319:D287H	D	-	1	0	PCLO	82623034	0.998000	0.40836	0.945000	0.38365	0.894000	0.52154	2.706000	0.47135	2.468000	0.83385	0.655000	0.94253	GAC	PCLO	-	NULL	ENSG00000186472		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5		0	17	0	C	NM_014510		82785098	-1			no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G	G	82785098	C	G	82785098	3	3	96	1	0	0	0	0	1	0	0	0	11622	913	32	5	14682	5	PCLO	7	82785098	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	18617013	82785098	76353565	47	27553											
NECAB1	64168	genome.wustl.edu	37	chr8	91962058	91962058	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctatacagaagctttcaaAtgaatctcgctacatgatct	13	14	5	9	1	4	3	1	2	3	1	5	3	4	3	0	0	3	2	0	0	6	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:91962058A>T	ENST00000417640.2	+	11	1221	c.884A>T	c.(883-885)aAt>aTt	p.N295I	NECAB1_ENST00000522820.1_Missense_Mutation_p.N44I|NECAB1_ENST00000521366.1_Missense_Mutation_p.N44I	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	295	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			AAGCTTTCAAATGAATCTCGC	0.353																																																	0													140	124	129					8																	91962058		1829	4091	5920	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	20983	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 1"	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.884A>T	8.37:g.91962058A>T	ENSP00000387380:p.Asn295Ile		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.N295I	ENST00000417640.2	37	c.884	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073266	0.76415	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.32272	1.46;1.46;1.46	5.72	3.23	0.37069	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.093937	0.64402	D	0.000001	T	0.30262	0.0759	L	0.44542	1.39	0.58432	D	0.999997	P	0.49696	0.927	P	0.48952	0.596	T	0.05733	-1.0867	10	0.87932	D	0	-17.5851	6.0255	0.19652	0.7123:0.1391:0.1486:0.0	.	295	Q8N987	NECA1_HUMAN	I	295;44;44	ENSP00000387380:N295I;ENSP00000428953:N44I;ENSP00000428632:N44I	ENSP00000387380:N295I	N	+	2	0	NECAB1	92031234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.416000	0.34759	1.002000	0.39104	0.533000	0.62120	AAT	NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel	ENSG00000123119		0.353	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	-	0	65	0	A	NM_022351		91962058	1	tier1	-	no_errors	ENST00000417640	ensembl	human	known	74_37	missense	7.44	112	9	SNP	1.000	T	T	91962058	A	T	91962058	3	4	96	1	0	0	0	0	1	0	0	0	10343	101	4	5	926	5	NECAB1	8	91962058	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09		91962058	54401964	48	27554											
RUNX1T1	862	genome.wustl.edu	37	chr8	92972690	92972690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatgagccacagtatcggGctgtgttacagccactgcag	12	8	11	10	1	0	1	0	1	0	0	1	1	0	1	2	1	4	4	2	1	4	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:92972690G>A	ENST00000523629.1	-	12	2049	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A495V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A495V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A505V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A532V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A543V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	532					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACAGTATCGGGCTGTGTTACA	0.517																																																	0													73	68	70					8																	92972690		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1595C>T	8.37:g.92972690G>A	ENSP00000428543:p.Ala532Val		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A543V	ENST00000523629.1	37	c.1628	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779481	0.90195	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.35973	1.3;1.29;1.3;1.3;1.3;1.3;1.28;1.29	5.86	5.86	0.93980	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.50786	0.1636	N	0.25426	0.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.98	D;D;D;D	0.97110	1.0;0.997;1.0;0.94	T	0.49093	-0.8975	10	0.54805	T	0.06	-17.7479	20.1802	0.98196	0.0:0.0:1.0:0.0	.	543;495;532;505	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	V	532;505;532;495;495;495;543;505	ENSP00000428543:A532V;ENSP00000379520:A505V;ENSP00000265814:A532V;ENSP00000353504:A495V;ENSP00000390137:A495V;ENSP00000428742:A495V;ENSP00000402257:A543V;ENSP00000430728:A505V	ENSP00000265814:A532V	A	-	2	0	RUNX1T1	93041866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	GCC	RUNX1T1	-	pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO	ENSG00000079102		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0	36	0	G	NM_004349, NM_175635		92972690	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	10.61	59	7	SNP	1.000	A	A	92972690	G	A	92972690	3	1	96	1	0	0	0	0	1	0	0	0	13792	1203	42	3	223	3	RUNX1T1	8	92972690	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	1010632	92972690	53391332	49	27555											
COL14A1	7373	genome.wustl.edu	37	chr8	121262859	121262859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttcttctttagttcCtggtccaacactggaaacgt	7	16	6	12	1	3	0	0	0	3	0	6	1	6	1	3	2	2	1	3	2	3	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:121262859C>T	ENST00000297848.3	+	22	2876	c.2606C>T	c.(2605-2607)cCt>cTt	p.P869L	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.P869L|COL14A1_ENST00000247781.3_Missense_Mutation_p.P774L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.P869R(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTTTAGTTCCTGGTCCAACA	0.383																																																	1	Substitution - Missense(1)	lung(1)											99	92	94					8																	121262859		2203	4300	6503	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"Collagens", "Fibronectin type III domain containing"	2191	protein-coding gene	gene with protein product		120324	"undulin"	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2606C>T	8.37:g.121262859C>T	ENSP00000297848:p.Pro869Leu			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P869L	ENST00000297848.3	37	c.2606	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443025	0.43326	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.73	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.290083	0.38663	N	0.001614	T	0.48409	0.1498	L	0.49350	1.555	0.80722	D	1	B;B	0.25521	0.128;0.027	B;B	0.26310	0.068;0.029	T	0.41645	-0.9497	10	0.30078	T	0.28	.	15.2456	0.73504	0.0:0.9324:0.0:0.0676	.	869;869	Q05707-2;Q05707	.;COEA1_HUMAN	L	869;869;774;682	ENSP00000311809:P869L;ENSP00000297848:P869L;ENSP00000247781:P774L;ENSP00000409461:P682L	ENSP00000247781:P774L	P	+	2	0	COL14A1	121332040	1.000000	0.71417	1.000000	0.80357	0.350000	0.29205	7.244000	0.78228	1.575000	0.49775	0.655000	0.94253	CCT	COL14A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.383	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0	35	0	C	NM_021110		121262859	1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	T	T	121262859	C	T	121262859	3	4	96	1	0	0	0	0	1	0	0	0	3678	681	24	3	2688	3	COL14A1	8	121262859	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	28290169	121262859	25101163	50	27556											
PUF60	22827	genome.wustl.edu	37	chr8	144900169	144900169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacagaggccacgtagatgCggttgaaggcccgtgcctcc	8	6	14	13	3	0	3	0	1	0	2	1	3	1	3	4	3	2	3	4	3	2	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr8:144900169C>T	ENST00000526683.1	-	8	1235	c.680G>A	c.(679-681)cGc>cAc	p.R227H	PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Missense_Mutation_p.R181H|PUF60_ENST00000349157.6_Missense_Mutation_p.R210H|PUF60_ENST00000453551.2_Missense_Mutation_p.R184H|SCRIB_ENST00000356994.2_5'Flank|SCRIB_ENST00000320476.3_5'Flank|PUF60_ENST00000313352.7_Missense_Mutation_p.R167H|PUF60_ENST00000456095.2_Missense_Mutation_p.R198H	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	227	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CACGTAGATGCGGTTGAAGGC	0.602																																																	0													59	62	61					8																	144900169		2143	4234	6377	SO:0001583	missense	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"RNA binding motif (RRM) containing"	17042	protein-coding gene	gene with protein product	"siah binding protein 1", "FBP interacting repressor", "pyrimidine tract binding splicing factor", "Ro ribonucleoprotein binding protein 1"	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.680G>A	8.37:g.144900169C>T	ENSP00000434359:p.Arg227His		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.R227H	ENST00000526683.1	37	c.680	CCDS47934.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.939533|4.939533	0.92526|0.92526	.|.	.|.	ENSG00000179950|ENSG00000179950	ENST00000527744|ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897	.|T;T;T;T;T;T;T;T;T	.|0.37584	.|3.24;3.24;3.24;3.24;3.24;3.24;1.19;3.28;2.52	4.62|4.62	4.62|4.62	0.57501|0.57501	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57858|0.57858	0.2082|0.2082	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.59767	.|0.986;0.967;0.945	.|P;P;P	.|0.59889	.|0.865;0.734;0.648	T|T	0.63550|0.63550	-0.6612|-0.6612	5|10	.|0.54805	.|T	.|0.06	.|.	16.8052|16.8052	0.85625|0.85625	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|198;210;227	.|Q9UHX1-5;Q9UHX1-2;Q9UHX1	.|.;.;PUF60_HUMAN	T|H	225|227;184;167;198;210;181;209;247;247	.|ENSP00000434359:R227H;ENSP00000402953:R184H;ENSP00000322016:R167H;ENSP00000395417:R198H;ENSP00000322036:R210H;ENSP00000431960:R181H;ENSP00000432610:R209H;ENSP00000434863:R247H;ENSP00000437309:R247H	.|ENSP00000322016:R167H	A|R	-|-	1|2	0|0	PUF60|PUF60	144972157|144972157	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.251000|7.251000	0.78297|0.78297	2.271000|2.271000	0.75665|0.75665	0.655000|0.655000	0.94253|0.94253	GCA|CGC	PUF60	-	smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	ENSG00000179950		0.602	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	-	0	69	0	C	NM_014281		144900169	-1	tier1	-	no_errors	ENST00000526683	ensembl	human	known	74_37	missense	22.45	76	22	SNP	1.000	T	T	144900169	C	T	144900169	3	4	96	1	0	0	0	0	1	0	0	0	12869	768	27	1	1019	1	PUF60	8	144900169	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	23637310	144900169	1463853	51	27557											
FBXO10	26267	genome.wustl.edu	37	chr9	37518154	37518154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcagcagctgcagccCgctgccccggttgccaatga	6	6	13	16	2	0	1	0	1	0	0	0	1	0	1	5	2	6	6	5	2	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:37518154C>T	ENST00000432825.2	-	9	2530	c.2482G>A	c.(2482-2484)Ggg>Agg	p.G828R	FBXO10_ENST00000541829.1_Missense_Mutation_p.G353R|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	828					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGCTGCAGCCCGCTGCCCCGG	0.567																																																	0													73	77	76					9																	37518154		2035	4180	6215	SO:0001583	missense	0			AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"F-boxes /  "other""	13589	protein-coding gene	gene with protein product		609092	"F-box only protein 10"			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2482G>A	9.37:g.37518154C>T	ENSP00000403802:p.Gly828Arg		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2	p.G828R	ENST00000432825.2	37	c.2482	CCDS47966.1	9	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737201	0.89482	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	D;D	0.86627	-2.15;-2.15	5.37	4.48	0.54585	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.84483	0.5482	L	0.32530	0.975	0.80722	D	1	D;P;P	0.58268	0.982;0.956;0.956	P;P;P	0.48795	0.55;0.59;0.59	D	0.85895	0.1431	10	0.87932	D	0	-17.3792	13.0729	0.59072	0.0:0.9214:0.0:0.0786	.	707;353;828	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	R	828;353	ENSP00000403802:G828R;ENSP00000441307:G353R	ENSP00000403802:G828R	G	-	1	0	FBXO10	37508154	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	7.070000	0.76763	1.266000	0.44231	0.655000	0.94253	GGG	FBXO10	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000147912		0.567	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO10	HGNC	protein_coding	OTTHUMT00000052472.3	-	0	43	0	C			37518154	-1	tier1	-	no_errors	ENST00000432825	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	T	T	37518154	C	T	37518154	3	4	96	1	0	0	0	0	1	0	0	0	5748	652	23	1	400	1	FBXO10	9	37518154	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		37518154	103695277	52	27558											
TRPM3	80036	genome.wustl.edu	37	chr9	73151532	73151532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacatcggaggctctgaGtcccaggggttttggcattc	6	12	14	9	1	1	1	0	1	1	0	4	2	2	2	1	6	1	4	1	6	1	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:73151532G>C	ENST00000377110.3	-	25	4704	c.4461C>G	c.(4459-4461)gaC>gaG	p.D1487E	TRPM3_ENST00000377106.1_Missense_Mutation_p.D1359E|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1336E|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1346E|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1359E|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1491E|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1346E|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1514E|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1349E|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1349E|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1346E			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1512					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGGCTCTGAGTCCCAGGGGT	0.507																																																	0													106	109	108					9																	73151532		2203	4300	6503	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4461C>G	9.37:g.73151532G>C	ENSP00000366314:p.Asp1487Glu		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D1514E	ENST00000377110.3	37	c.4542	CCDS43835.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271648|1.271648	0.23221|0.23221	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.62105|.	0.18;0.07;0.06;0.06;0.18;0.06;0.05;0.07;0.06;0.17|.	6.02|6.02	2.79|2.79	0.32731|0.32731	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.25195|0.25195	0.0612|0.0612	L|L	0.29908|0.29908	0.895|0.895	0.24933|0.24933	N|N	0.991908|0.991908	B;B;B;B;B;B;B|.	0.15141|.	0.012;0.001;0.001;0.003;0.005;0.0;0.003|.	B;B;B;B;B;B;B|.	0.14578|.	0.011;0.007;0.002;0.005;0.011;0.001;0.005|.	T|T	0.18304|0.18304	-1.0341|-1.0341	10|5	0.12766|.	T|.	0.61|.	-28.6681|-28.6681	4.2682|4.2682	0.10773|0.10773	0.3585:0.0:0.4841:0.1574|0.3585:0.0:0.4841:0.1574	.|.	1487;1477;1491;1349;1346;1459;1346|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	E|V	1487;1359;1349;1346;1491;1346;1346;1359;1349;1514|1336	ENSP00000366314:D1487E;ENSP00000366310:D1359E;ENSP00000354066:D1349E;ENSP00000366309:D1346E;ENSP00000350140:D1491E;ENSP00000386127:D1346E;ENSP00000379581:D1346E;ENSP00000379587:D1359E;ENSP00000350791:D1349E;ENSP00000389542:D1514E|.	ENSP00000350140:D1491E|.	D|L	-|-	3|1	2|0	TRPM3|TRPM3	72341352|72341352	0.956000|0.956000	0.32656|0.32656	0.987000|0.987000	0.45799|0.45799	0.995000|0.995000	0.86356|0.86356	0.718000|0.718000	0.25866|0.25866	0.889000|0.889000	0.36185|0.36185	0.655000|0.655000	0.94253|0.94253	GAC|CTC	TRPM3	-	NULL	ENSG00000083067		0.507	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	-	0	9	0	G	NM_206945		73151532	-1	tier1	-	no_errors	ENST00000423814	ensembl	human	known	74_37	missense	55.56	8	10	SNP	0.374	C	C	73151532	G	C	73151532	3	2	96	1	0	0	0	0	1	0	0	0	16635	1020	36	5	666	5	TRPM3	9	73151532	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	35633378	73151532	68061899	53	27559											
NTRK2	4915	genome.wustl.edu	37	chr9	87339229	87339229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcttgtgtggcggaaaatCttgtaggagaagatcaagat	12	12	12	5	1	3	3	1	0	2	3	4	5	3	4	0	3	0	1	0	3	5	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:87339229C>T	ENST00000323115.4	+	7	1164	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F	NTRK2_ENST00000395866.2_Missense_Mutation_p.L115F|NTRK2_ENST00000376208.1_Missense_Mutation_p.L271F|NTRK2_ENST00000395882.1_Missense_Mutation_p.L271F|NTRK2_ENST00000376213.1_Missense_Mutation_p.L271F|NTRK2_ENST00000359847.3_Missense_Mutation_p.L271F|NTRK2_ENST00000277120.3_Missense_Mutation_p.L271F|NTRK2_ENST00000304053.6_Missense_Mutation_p.L271F|NTRK2_ENST00000376214.1_Missense_Mutation_p.L271F			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	271	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	GGCGGAAAATCTTGTAGGAGA	0.418										TSP Lung(25;0.17)																																							0													224	212	216					9																	87339229		2203	4300	6503	SO:0001583	missense	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.811C>T	9.37:g.87339229C>T	ENSP00000314586:p.Leu271Phe		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.L271F	ENST00000323115.4	37	c.811	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889163	0.52014	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.27	1.97	0.26223	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188218	0.45867	D	0.000340	T	0.64057	0.2564	L	0.31157	0.91	0.32822	D	0.5029	P;B;B;B;B;B;D;B	0.56287	0.724;0.127;0.127;0.154;0.316;0.039;0.975;0.127	B;B;B;B;B;B;P;B	0.53062	0.424;0.119;0.185;0.281;0.395;0.169;0.717;0.185	T	0.72469	-0.4284	10	0.56958	D	0.05	.	13.4396	0.61106	0.5967:0.4033:0.0:0.0	.	115;271;271;271;271;271;317;271	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	F	271;271;271;271;271;271;271;271;115	ENSP00000365387:L271F;ENSP00000365386:L271F;ENSP00000379221:L271F;ENSP00000365381:L271F;ENSP00000306167:L271F;ENSP00000277120:L271F;ENSP00000314586:L271F;ENSP00000352906:L271F;ENSP00000379207:L115F	ENSP00000277120:L271F	L	+	1	0	NTRK2	86529049	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	3.529000	0.53532	0.234000	0.21139	0.460000	0.39030	CTT	NTRK2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt	ENSG00000148053		0.418	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1		0	52	0	C			87339229	1			no_errors	ENST00000277120	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T	T	87339229	C	T	87339229	3	4	96	1	0	0	0	0	1	0	0	0	10746	913	32	3	837	3	NTRK2	9	87339229	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	14187697	87339229	53874202	54	27560											
NOTCH1	4851	genome.wustl.edu	37	chr9	139400294	139400294	+	Frame_Shift_Del	DEL	A	A	-																															gaggcagcgcaggctgccgcAggtacgagcgtcattctcac																										TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr9:139400294delA	ENST00000277541.6	-	25	4129	c.4054delT	c.(4054-4056)tgcfs	p.C1352fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1352	EGF-like 35. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCTGCCGCAGGTACGAGCG	0.721			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													8	12	10					9																	139400294		1687	3579	5266	SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4054delT	9.37:g.139400294delA	ENSP00000277541:p.Cys1352fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1352fs	ENST00000277541.6	37	c.4054	CCDS43905.1	9																																																																																			NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.721	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	15	0	A	NM_017617		139400294	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	53.85	6	7	DEL	1.000	-	-	139400294	A	-	139400294	7	5	96	1	0	1	0	1	0	0	0	0	10586	188	7	0	3653	0	NOTCH1	9	139400294	Frame_Shift_Del	DEL	A	TCGA-L7-A56G-01A-21D-A27G-09	52061065	139400294	1813137	55	27561											
SVIL	6840	genome.wustl.edu	37	chr10	29839859	29839859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcggtcccggggtacagaGaactagcatctctgcttgac	8	10	11	12	2	2	2	0	1	2	1	5	3	3	2	1	3	4	3	1	3	3	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:29839859G>A	ENST00000355867.4	-	6	1246	c.494C>T	c.(493-495)tCt>tTt	p.S165F	SVIL_ENST00000375400.3_Missense_Mutation_p.S165F|SVIL_ENST00000375398.2_Missense_Mutation_p.S165F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	165	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGGTACAGAGAACTAGCATC	0.562																																																	0													78	77	77					10																	29839859		2203	4300	6503	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"archvillin"	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.494C>T	10.37:g.29839859G>A	ENSP00000348128:p.Ser165Phe		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S165F	ENST00000355867.4	37	c.494	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375257	0.24857	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.49139	0.79;0.79;0.79	5.27	4.27	0.50696	.	0.507828	0.23690	N	0.045532	T	0.46698	0.1406	M	0.69823	2.125	0.18873	N	0.999989	P;P	0.47841	0.716;0.901	B;B	0.39094	0.113;0.29	T	0.52697	-0.8541	9	.	.	.	-7.7372	14.7182	0.69286	0.0:0.0:0.7601:0.2399	.	165;165	O95425-2;O95425	.;SVIL_HUMAN	F	165	ENSP00000364549:S165F;ENSP00000364547:S165F;ENSP00000348128:S165F	.	S	-	2	0	SVIL	29879865	0.383000	0.25156	0.007000	0.13788	0.033000	0.12548	2.284000	0.43478	2.465000	0.83290	0.591000	0.81541	TCT	SVIL	-	NULL	ENSG00000197321		0.562	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	-	0	48	0	G			29839859	-1	tier1	-	no_errors	ENST00000355867	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.001	A	A	29839859	G	A	29839859	3	1	96	1	0	0	0	0	1	0	0	0	15468	942	33	3	6282	3	SVIL	10	29839859	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09		29839859	105694888	56	27562											
RBP3	5949	genome.wustl.edu	37	chr10	48389039	48389039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccagcacgatggcatcGggcaccactccaccacccag	9	4	10	18	3	0	0	0	0	0	0	3	1	1	0	5	3	1	3	5	3	0	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:48389039G>A	ENST00000224600.4	-	1	1952	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	613	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGATGGCATCGGGCACCACTC	0.672																																																	0													32	34	33					10																	48389039		2199	4290	6489	SO:0001819	synonymous_variant	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"retinol-binding protein 3, interstitial"				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1839C>T	10.37:g.48389039G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.P613	ENST00000224600.4	37	c.1839	CCDS7218.1	10																																																																																			RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	-	0	30	0	G	NM_002900		48389039	-1	tier1	-	no_errors	ENST00000224600	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.028	A	A	48389039	G	A	48389039	2	1	96	1	0	0	0	0	0	0	0	1	13202	1103	39	1		1	RBP3	10	48389039	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	18549180	48389039	87145708	57	27563											
CHST3	9469	genome.wustl.edu	37	chr10	73768109	73768109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagctggcccaggtggtGcaggccgcctgcggccctgc	4	7	15	15	2	1	0	1	0	0	0	1	0	1	0	4	5	4	2	4	5	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:73768109G>A	ENST00000373115.4	+	3	1757	c.1320G>A	c.(1318-1320)gtG>gtA	p.V440V		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	440					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						CCCAGGTGGTGCAGGCCGCCT	0.677																																																	0													20	17	18					10																	73768109		2173	4255	6428	SO:0001819	synonymous_variant	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"Sulfotransferases, membrane-bound"	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1320G>A	10.37:g.73768109G>A			O75099|Q52M30	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.V440	ENST00000373115.4	37	c.1320	CCDS7312.1	10																																																																																			CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.677	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	-	0	35	0	G	NM_004273		73768109	1	tier1	-	no_errors	ENST00000373115	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.986	A	A	73768109	G	A	73768109	2	1	96	1	0	0	0	0	0	0	0	1	3412	1306	46	3		3	CHST3	10	73768109	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	25379070	73768109	61766638	58	27564											
C10orf57	80195	genome.wustl.edu	37	chr10	81841942	81841943	+	Frame_Shift_Ins	INS	-	-	T																															catgtgggagagtccttgtaINStgccatagtattgtgcaagt																										TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:81841942_81841943insT	ENST00000372281.3	+	3	263_264	c.233_234insT	c.(232-237)tatgccfs	p.A79fs	TMEM254_ENST00000372274.1_Frame_Shift_Ins_p.A79fs|TMEM254_ENST00000372275.1_Frame_Shift_Ins_p.A79fs|TMEM254_ENST00000467529.1_3'UTR|TMEM254_ENST00000372277.3_Frame_Shift_Ins_p.A79fs	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254	79						integral component of membrane (GO:0016021)											GAGTCCTTGTATGCCATAGTAT	0.366																																																	0																																										SO:0001589	frameshift_variant	0			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 57"	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.234dupT	10.37:g.81841943_81841943dupT	ENSP00000361355:p.Ala79fs		D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	Frame_Shift_Ins	INS	NULL	p.A79fs	ENST00000372281.3	37	c.233_234	CCDS7363.1	10																																																																																			TMEM254	-	NULL	ENSG00000133678		0.366	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1		0	71	0	-	NM_025125		81841943	1	tier1		no_errors	ENST00000372281	ensembl	human	known	74_37	frame_shift_ins	15.58	65	12	INS	1.000:1.000	T	T	81841943	-	T	81841942	7	5	96	1	0	1	1	0	0	0	0	0	1614	449	16	0	243	0	C10orf57	10	81841942	Frame_Shift_Ins	INS	-	TCGA-L7-A56G-01A-21D-A27G-09	8073833	81841942	53692805	59	27565											
LDB1	8861	genome.wustl.edu	37	chr10	103870344	103870344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccctggtcacagtcgaggGacacaaagttgctgtggaat	10	9	13	9	1	1	0	1	0	0	0	2	3	1	2	1	3	2	2	1	3	2	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:103870344G>A	ENST00000425280.1	-	6	809	c.467C>T	c.(466-468)tCc>tTc	p.S156F	LDB1_ENST00000361198.5_Missense_Mutation_p.S120F|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	156					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ACAGTCGAGGGACACAAAGTT	0.572																																																	0													96	67	77					10																	103870344		2203	4300	6503	SO:0001583	missense	0			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"carboxy terminal LIM domain protein 2"	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.467C>T	10.37:g.103870344G>A	ENSP00000392466:p.Ser156Phe		B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	NULL	p.S156F	ENST00000425280.1	37	c.467	CCDS44472.1	10	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463116	0.84425	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.57784	0.2077	N	0.03608	-0.345	0.80722	D	1	D;D	0.67145	0.996;0.98	D;P	0.79784	0.993;0.708	T	0.69075	-0.5241	9	0.49607	T	0.09	-16.2002	19.6758	0.95932	0.0:0.0:1.0:0.0	.	156;120	Q86U70;Q86U70-3	LDB1_HUMAN;.	F	120;156	.	ENSP00000354616:S120F	S	-	2	0	LDB1	103860334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.452000	0.97615	2.644000	0.89710	0.561000	0.74099	TCC	LDB1	-	NULL	ENSG00000198728		0.572	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		-	0	42	0	G	NM_001113407		103870344	-1	tier1	-	no_errors	ENST00000425280	ensembl	human	known	74_37	missense	59.09	18	26	SNP	1.000	A	A	103870344	G	A	103870344	3	1	96	1	0	0	0	0	1	0	0	0	8723	1174	41	3	792	3	LDB1	10	103870344	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	22028402	103870344	31664403	60	27566											
TACC2	10579	genome.wustl.edu	37	chr10	123970420	123970420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacaggagccagatgaagaGagccttgtccccagtgggga	12	5	14	10	0	0	3	0	1	0	2	1	6	1	5	4	3	3	0	4	3	2	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr10:123970420G>C	ENST00000369005.1	+	9	6820	c.6480G>C	c.(6478-6480)gaG>gaC	p.E2160D	TACC2_ENST00000515273.1_Missense_Mutation_p.E2164D|TACC2_ENST00000515603.1_Missense_Mutation_p.E2115D|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.E306D|TACC2_ENST00000453444.2_Missense_Mutation_p.E2164D|TACC2_ENST00000360561.3_Missense_Mutation_p.E238D|TACC2_ENST00000513429.1_Missense_Mutation_p.E306D|TACC2_ENST00000334433.3_Missense_Mutation_p.E2160D|TACC2_ENST00000260733.3_Missense_Mutation_p.E238D|TACC2_ENST00000368999.1_Missense_Mutation_p.E238D|TACC2_ENST00000369004.3_Missense_Mutation_p.E238D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2160					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGATGAAGAGAGCCTTGTCC	0.537																																																	0													100	113	108					10																	123970420		2203	4300	6503	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6480G>C	10.37:g.123970420G>C	ENSP00000358001:p.Glu2160Asp		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.E2160D	ENST00000369005.1	37	c.6480	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	3.344	-0.133970	0.06711	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000505639	T;T;T;T;T;T;T;T;T;T;T;T;T	0.20738	3.94;3.53;4.0;3.99;3.94;3.53;4.0;3.4;3.32;3.32;3.41;3.03;2.05	5.54	2.69	0.31865	.	0.000000	0.36034	N	0.002833	T	0.21427	0.0516	M	0.68317	2.08	0.30788	N	0.741233	B;P;B;P;P;B;P;P;P	0.43750	0.056;0.584;0.004;0.714;0.584;0.012;0.816;0.816;0.714	B;B;B;B;B;B;P;P;B	0.45099	0.027;0.243;0.009;0.263;0.243;0.02;0.469;0.469;0.263	T	0.12167	-1.0558	10	0.18276	T	0.48	-16.134	4.2884	0.10865	0.1354:0.2929:0.4606:0.111	.	255;2164;238;2115;2164;238;238;306;2160	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	D	2160;306;2164;2115;2160;306;2164;2150;238;238;238;238;255;1	ENSP00000358001:E2160D;ENSP00000425062:E306D;ENSP00000424467:E2164D;ENSP00000427618:E2115D;ENSP00000334280:E2160D;ENSP00000350701:E306D;ENSP00000395048:E2164D;ENSP00000353763:E238D;ENSP00000357995:E238D;ENSP00000422815:E238D;ENSP00000260733:E238D;ENSP00000420967:E255D;ENSP00000426303:E1D	ENSP00000260733:E238D	E	+	3	2	TACC2	123960410	0.996000	0.38824	0.036000	0.18154	0.090000	0.18270	1.897000	0.39799	0.298000	0.22638	0.655000	0.94253	GAG	TACC2	-	NULL	ENSG00000138162		0.537	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	-	0	59	0	G			123970420	1	tier1	-	no_errors	ENST00000334433	ensembl	human	known	74_37	missense	36.25	51	29	SNP	0.963	C	C	123970420	G	C	123970420	3	2	96	1	0	0	0	0	1	0	0	0	15549	933	33	5	6582	5	TACC2	10	123970420	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	20100076	123970420	11564327	61	27567											
NAP1L4	4676	genome.wustl.edu	37	chr11	2979674	2979674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggactcattgggtacttGtttcgtaattgttctaacag	11	15	9	6	1	2	0	1	0	1	0	3	1	2	1	0	2	2	4	0	2	4	8			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:2979674G>C	ENST00000380542.4	-	10	987	c.847C>G	c.(847-849)Caa>Gaa	p.Q283E	NAP1L4_ENST00000526115.1_Missense_Mutation_p.Q283E	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	283					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TTGGGTACTTGTTTCGTAATT	0.343																																																	0													205	191	195					11																	2979674		1896	4106	6002	SO:0001583	missense	0			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.847C>G	11.37:g.2979674G>C	ENSP00000369915:p.Gln283Glu		B2R6J4|F5HFY4	Missense_Mutation	SNP	pfam_NAP_family	p.Q283E	ENST00000380542.4	37	c.847	CCDS41599.1	11	.	.	.	.	.	.	.	.	.	.	G	6.196	0.404396	0.11754	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115	T;T	0.23754	1.89;1.89	4.36	4.36	0.52297	.	0.189899	0.47455	D	0.000230	T	0.15739	0.0379	N	0.12961	0.28	0.38455	D	0.947065	B;B	0.11235	0.004;0.001	B;B	0.15052	0.012;0.01	T	0.07158	-1.0787	10	0.38643	T	0.18	-22.4219	12.2946	0.54838	0.0:0.0:0.8308:0.1692	.	283;283	F5HFY4;Q99733	.;NP1L4_HUMAN	E	283	ENSP00000369915:Q283E;ENSP00000436397:Q283E	ENSP00000369915:Q283E	Q	-	1	0	NAP1L4	2936250	1.000000	0.71417	0.283000	0.24790	0.247000	0.25773	2.900000	0.48687	2.278000	0.76064	0.585000	0.79938	CAA	NAP1L4	-	pfam_NAP_family	ENSG00000205531		0.343	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L4	HGNC	protein_coding	OTTHUMT00000030273.3	-	0	80	0	G	NM_005969		2979674	-1	tier1	-	no_errors	ENST00000380542	ensembl	human	known	74_37	missense	21.95	64	18	SNP	0.959	C	C	2979674	G	C	2979674	3	2	96	1	0	0	0	0	1	0	0	0	10197	1386	48	5	304	5	NAP1L4	11	2979674	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09		2979674	132026842	62	27568											
PGR	5241	genome.wustl.edu	37	chr11	100999704	100999704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccccgggaacggacctGcggctgggcgacacagcagt	7	4	16	14	4	0	0	0	0	0	0	1	3	1	2	3	5	3	3	3	5	1	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:100999704G>A	ENST00000325455.5	-	1	1551	c.98C>T	c.(97-99)gCa>gTa	p.A33V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A33V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	33	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GAACGGACCTGCGGCTGGGCG	0.687																																					Pancreas(124;2271 2354 21954 22882)												0													18	15	16					11																	100999704		2202	4296	6498	SO:0001583	missense	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"Nuclear hormone receptors"	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.98C>T	11.37:g.100999704G>A	ENSP00000325120:p.Ala33Val		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.A33V	ENST00000325455.5	37	c.98	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518615	0.13005	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08102	3.13;3.13	4.68	2.79	0.32731	.	1.415430	0.04726	N	0.420173	T	0.11750	0.0286	L	0.58101	1.795	0.09310	N	1	B;B	0.27882	0.192;0.192	B;B	0.25759	0.063;0.063	T	0.35500	-0.9786	10	0.48119	T	0.1	.	7.6165	0.28160	0.0906:0.1645:0.7449:0.0	.	33;33	Q8TDS3;P06401	.;PRGR_HUMAN	V	33	ENSP00000325120:A33V;ENSP00000263463:A33V	ENSP00000263463:A33V	A	-	2	0	PGR	100504914	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.721000	0.25911	0.400000	0.25396	-0.224000	0.12420	GCA	PGR	-	pfam_Progest_rcpt	ENSG00000082175		0.687	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0	32	0	G			100999704	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.001	A	A	100999704	G	A	100999704	3	1	96	1	0	0	0	0	1	0	0	0	11844	1319	46	3	2735	3	PGR	11	100999704	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	98020030	100999704	34006812	63	27569											
C11orf87	399947	genome.wustl.edu	37	chr11	109294496	109294496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagtaggcagcggcacctGcatcacgcaggtgggacagc	9	4	15	13	3	1	0	1	0	0	0	1	1	1	1	1	4	3	6	1	4	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:109294496G>A	ENST00000327419.6	+	2	540	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	46						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGCGGCACCTGCATCACGCAG	0.647																																																	0													120	95	103					11																	109294496		2201	4298	6499	SO:0001583	missense	0			AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"neuronal integral membrane protein 1"					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.137G>A	11.37:g.109294496G>A	ENSP00000331581:p.Cys46Tyr		B4E169	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.C46Y	ENST00000327419.6	37	c.137	CCDS31672.1	11	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420962	0.62622	.	.	ENSG00000185742	ENST00000327419	.	.	.	4.13	4.13	0.48395	.	0.000000	0.64402	U	0.000011	T	0.65565	0.2703	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.70443	-0.4870	9	0.87932	D	0	.	15.4939	0.75634	0.0:0.0:1.0:0.0	.	46	Q6NUJ2	CK087_HUMAN	Y	46	.	ENSP00000331581:C46Y	C	+	2	0	C11orf87	108799706	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.503000	0.90509	2.307000	0.77673	0.462000	0.41574	TGC	C11orf87	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000185742		0.647	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf87	HGNC	protein_coding	OTTHUMT00000390403.1	-	0	40	0	G	NM_207645		109294496	1	tier1	-	no_errors	ENST00000327419	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	109294496	G	A	109294496	3	1	96	1	0	0	0	0	1	0	0	0	1674	1319	46	3	139	3	C11orf87	11	109294496	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	8294792	109294496	25712020	64	27570											
C2CD2L	1798	genome.wustl.edu	37	chr11	118981761	118981761	+	5'Flank	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcccttcttctctctgcaGagaggtgaagaacaagtgga	10	11	11	9	0	3	3	0	1	3	2	5	5	4	4	1	2	2	2	1	2	3	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr11:118981761G>A	ENST00000409993.2	-	0	0				C2CD2L_ENST00000336702.3_Splice_Site|C2CD2L_ENST00000528586.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCTCTCTGCAGAGAGGTGAAG	0.562																																																	0													133	132	132					11																	118981761		2200	4295	6495	SO:0001631	upstream_gene_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981761G>A	Exception_encountered		O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	-	e5-1	ENST00000409993.2	37	c.682-1	CCDS8411.1	11	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239274	0.22711	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5051	0.84270	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486971	1.000000	0.71417	0.998000	0.56505	0.422000	0.31414	3.750000	0.55157	2.365000	0.80145	0.462000	0.41574	.	C2CD2L	-	-	ENSG00000172375		0.562	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000331527.2	-	0	26	0	G	NM_001382		118981761	1	tier1	-	no_errors	ENST00000336702	ensembl	human	known	74_37	splice_site	50.00	9	9	SNP	1.000	A	A	118981761	G	A	118981761	1	1	96	0	1	0	0	0	0	0	0	0	2160	956	33	3		3	C2CD2L	11	118981761	5'Flank	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	9687265	118981761	16024755	65	27571											
TAPBPL	55080	genome.wustl.edu	37	chr12	6566732	6566732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttggtgtacagctggacCgcagggcaggggcaggctgt	7	7	18	9	1	0	0	0	0	0	0	0	1	0	1	1	6	2	7	1	6	1	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:6566732C>T	ENST00000266556.7	+	4	891	c.726C>T	c.(724-726)acC>acT	p.T242T	TAPBPL_ENST00000545700.1_Intron|TAPBPL_ENST00000544021.1_Intron	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	242	Ig-like V-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						ACAGCTGGACCGCAGGGCAGG	0.652																																																	0													79	71	73					12																	6566732		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001005	CCDS8546.1	12p13.31	2013-01-11						"Immunoglobulin superfamily / C1-set domain containing"	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.726C>T	12.37:g.6566732C>T			Q9NWB8	Silent	SNP	pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.T242	ENST00000266556.7	37	c.726	CCDS8546.1	12																																																																																			TAPBPL	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000139192		0.652	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	HGNC	protein_coding	OTTHUMT00000399263.1	-	0	52	0	C	NM_018009		6566732	1	tier1	-	no_errors	ENST00000266556	ensembl	human	known	74_37	silent	21.30	85	23	SNP	0.000	T	T	6566732	C	T	6566732	2	4	96	1	0	0	0	0	0	0	0	1	15600	639	23	1		1	TAPBPL	12	6566732	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		6566732	127285163	66	27572											
TAS2R13	50838	genome.wustl.edu	37	chr12	11061567	11061567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggctagagaaactcgctaTtttgagcaaataaaagatgc	16	9	10	6	1	0	3	0	1	0	2	1	4	0	3	0	1	3	3	0	1	6	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:11061567T>C	ENST00000390677.2	-	1	594	c.331A>G	c.(331-333)Ata>Gta	p.I111V	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	111					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AAACTCGCTATTTTGAGCAAA	0.353																																																	0													57	62	60					12																	11061567		2203	4300	6503	SO:0001583	missense	0			AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.331A>G	12.37:g.11061567T>C	ENSP00000375095:p.Ile111Val		Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.I111V	ENST00000390677.2	37	c.331	CCDS8635.1	12	.	.	.	.	.	.	.	.	.	.	T	15.44	2.832924	0.50951	.	.	ENSG00000212128	ENST00000390677	T	0.50813	0.73	3.3	3.3	0.37823	.	0.098833	0.40728	U	0.001034	T	0.67627	0.2913	M	0.86953	2.85	0.23700	N	0.99707	D	0.65815	0.995	D	0.72982	0.979	T	0.58335	-0.7654	10	0.62326	D	0.03	.	8.228	0.31582	0.0:0.0:0.0:1.0	.	111	Q9NYV9	T2R13_HUMAN	V	111	ENSP00000375095:I111V	ENSP00000375095:I111V	I	-	1	0	TAS2R13	10952834	0.985000	0.35326	0.774000	0.31636	0.824000	0.46624	1.374000	0.34283	1.479000	0.48272	0.533000	0.62120	ATA	TAS2R13	-	pfam_TAS2_rcpt	ENSG00000212128		0.353	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R13	HGNC	protein_coding	OTTHUMT00000400229.1	-	0	28	0	T			11061567	-1	tier1	-	no_errors	ENST00000390677	ensembl	human	known	74_37	missense	56.25	48	63	SNP	0.693	C	C	11061567	T	C	11061567	3	2	96	1	0	0	0	0	1	0	0	0	15614	1493	52	4	584	4	TAS2R13	12	11061567	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	4494835	11061567	122790328	67	27573											
ESPL1	9700	genome.wustl.edu	37	chr12	53677897	53677897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcccgcaatgacattGatctctgtcagtcggacctg	8	10	11	12	2	2	2	1	2	1	0	4	3	2	3	2	2	1	2	2	2	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:53677897G>T	ENST00000257934.4	+	17	3224	c.3133G>T	c.(3133-3135)Gat>Tat	p.D1045Y	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1045Y	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1045					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.D1045N(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAATGACATTGATCTCTGTCA	0.542																																					Colon(53;1069 1201 2587 5382)												1	Substitution - Missense(1)	urinary_tract(1)											231	209	216					12																	53677897		2203	4300	6503	SO:0001583	missense	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"separin", "separase", "separin, cysteine protease"	604143	"extra spindle poles like 1 (S. cerevisiae)"			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3133G>T	12.37:g.53677897G>T	ENSP00000257934:p.Asp1045Tyr			Missense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.D1045Y	ENST00000257934.4	37	c.3133	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.106560	0.77096	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.17528	2.27;2.27	5.55	5.55	0.83447	.	0.148867	0.64402	D	0.000013	T	0.39682	0.1087	M	0.70595	2.14	0.41599	D	0.988844	D;D	0.89917	1.0;0.998	D;D	0.73380	0.98;0.936	T	0.11179	-1.0598	10	0.72032	D	0.01	.	12.5448	0.56193	0.0:0.1667:0.8333:0.0	.	256;1045	B4DRU1;Q14674	.;ESPL1_HUMAN	Y	1045;720;1045	ENSP00000257934:D1045Y;ENSP00000449831:D1045Y	ENSP00000257934:D1045Y	D	+	1	0	ESPL1	51964164	1.000000	0.71417	0.971000	0.41717	0.917000	0.54804	6.194000	0.72082	2.894000	0.99253	0.655000	0.94253	GAT	ESPL1	-	NULL	ENSG00000135476		0.542	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0	59	0	G	NM_012291		53677897	1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.993	T	T	53677897	G	T	53677897	3	4	96	1	0	0	0	0	1	0	0	0	5269	1290	45	3	3195	3	ESPL1	12	53677897	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	42616330	53677897	80173998	68	27574											
PFDN5	5204	genome.wustl.edu	37	chr12	53690038	53690038	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttcacagggaaagaattActcgtcccactgacgagttc	11	10	9	11	2	1	2	1	1	0	1	4	4	2	3	1	1	1	2	1	1	3	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr12:53690038A>G	ENST00000551018.1	+	3	463	c.186A>G	c.(184-186)ttA>ttG	p.L62L	PFDN5_ENST00000334478.4_Silent_p.L62L|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000351500.3_Intron|PFDN5_ENST00000550846.1_Intron	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	62					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						GGAAAGAATTACTCGTCCCAC	0.527																																																	0													89	84	86					12																	53690038		2203	4300	6503	SO:0001819	synonymous_variant	0			D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"prefoldin 5"			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.186A>G	12.37:g.53690038A>G			A8K9A8|Q54AA8|Q9C083|Q9C084	Silent	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	p.L62	ENST00000551018.1	37	c.186	CCDS8853.1	12																																																																																			PFDN5	-	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha	ENSG00000123349		0.527	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN5	HGNC	protein_coding	OTTHUMT00000405368.2	-	0	37	0	A			53690038	1	tier1	-	no_errors	ENST00000551018	ensembl	human	known	74_37	silent	46.15	28	24	SNP	0.999	G	G	53690038	A	G	53690038	2	3	96	1	0	0	0	0	0	0	0	1	11797	388	14	4		4	PFDN5	12	53690038	Silent	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	12141	53690038	80161857	69	27575											
FGF9	2254	genome.wustl.edu	37	chr13	22246309	22246309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtactatccagggaaccagGaaagaccacagccgatttgg	13	6	12	10	1	0	1	0	0	0	1	1	4	1	3	4	4	3	1	4	4	4	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr13:22246309G>T	ENST00000382353.5	+	1	788	c.258G>T	c.(256-258)agG>agT	p.R86S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	86					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		AGGGAACCAGGAAAGACCACA	0.463																																					Melanoma(195;1939 2127 12623 13963 52730)												0													77	78	78					13																	22246309		2203	4300	6503	SO:0001583	missense	0			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"Endogenous ligands"	3687	protein-coding gene	gene with protein product	"glia-activating factor"	600921	"fibroblast growth factor 9 (glia-activating factor)"			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.258G>T	13.37:g.22246309G>T	ENSP00000371790:p.Arg86Ser		A8K427|Q3SY32	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R86S	ENST00000382353.5	37	c.258	CCDS9298.1	13	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779867	0.49891	.	.	ENSG00000102678	ENST00000382353	D	0.81579	-1.51	5.24	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	M	0.78049	2.395	0.54753	D	0.99998	B	0.28552	0.215	B	0.39299	0.296	T	0.77691	-0.2493	10	0.87932	D	0	.	7.9881	0.30224	0.1454:0.1326:0.722:0.0	.	86	P31371	FGF9_HUMAN	S	86	ENSP00000371790:R86S	ENSP00000371790:R86S	R	+	3	2	FGF9	21144309	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.158000	0.50723	0.204000	0.20548	0.555000	0.69702	AGG	FGF9	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000102678		0.463	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF9	HGNC	protein_coding	OTTHUMT00000046002.2	-	0	61	0	G			22246309	1	tier1	-	no_errors	ENST00000382353	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	22246309	G	T	22246309	3	4	96	1	0	0	0	0	1	0	0	0	5881	1165	41	3	260	3	FGF9	13	22246309	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09		22246309	92923569	70	27576											
NYNRIN	57523	genome.wustl.edu	37	chr14	24880309	24880309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcagcacttcttctcctgCcgaggaattgccatggcagt	7	11	10	13	1	2	0	0	0	2	0	3	2	2	1	3	2	4	3	3	2	1	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr14:24880309C>T	ENST00000382554.3	+	5	2760	c.2442C>T	c.(2440-2442)tgC>tgT	p.C814C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	814					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTTCTCCTGCCGAGGAATTG	0.602											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71	78	76					14																	24880309		2102	4243	6345	SO:0001819	synonymous_variant	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"Cousin of GIN1"		"KIAA1305"	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2442C>T	14.37:g.24880309C>T		774	Q6P153|Q86TR3|Q9HAC4	Silent	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.C814	ENST00000382554.3	37	c.2442	CCDS45090.1	14																																																																																			NYNRIN	-	pfam_RNase_Zc3h12	ENSG00000205978		0.602	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	-	0	55	0	C			24880309	1	tier1	-	no_errors	ENST00000382554	ensembl	human	known	74_37	silent	13.16	33	5	SNP	1.000	T	T	24880309	C	T	24880309	2	4	96	1	0	0	0	0	0	0	0	1	10835	747	26	3		3	NYNRIN	14	24880309	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		24880309	82469231	71	27577											
MAX	4149	genome.wustl.edu	37	chr14	65543336	65543336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtctgaggaggggtagTtggtctgcagttgggcactt	5	14	17	5	0	2	1	0	1	2	0	2	2	2	2	0	5	1	6	0	5	1	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr14:65543336T>C	ENST00000358664.4	-	5	471	c.341A>G	c.(340-342)aAc>aGc	p.N114S	MAX_ENST00000555932.1_Missense_Mutation_p.T28A|MAX_ENST00000557277.1_Missense_Mutation_p.N51S|MAX_ENST00000341653.2_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.N78S|MAX_ENST00000284165.6_3'UTR|MAX_ENST00000358402.4_Missense_Mutation_p.N105S	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	114					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GGAGGGGTAGTTGGTCTGCAG	0.577																																																	0													209	191	197					14																	65543336		2203	4300	6503	SO:0001583	missense	0				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.341A>G	14.37:g.65543336T>C	ENSP00000351490:p.Asn114Ser		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.N114S	ENST00000358664.4	37	c.341	CCDS9771.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.63|11.63	1.696785|1.696785	0.30142|0.30142	.|.	.|.	ENSG00000125952|ENSG00000125952	ENST00000358402;ENST00000358664;ENST00000555419;ENST00000557277;ENST00000556892|ENST00000555932	D;D;D;D;D|.	0.97066|.	-4.23;-4.19;-3.57;-1.91;-2.31|.	5.93|5.93	4.79|4.79	0.61399|0.61399	.|.	1.098610|.	0.06844|.	N|.	0.796244|.	T|T	0.27454|0.27454	0.0674|0.0674	N|N	0.03324|0.03324	-0.35|-0.35	0.80722|0.80722	D|D	1|1	B;B|B	0.09022|0.06786	0.0;0.002|0.001	B;B|B	0.06405|0.11329	0.002;0.002|0.006	T|T	0.06570|0.06570	-1.0819|-1.0819	10|7	0.22109|.	T|.	0.4|.	-10.0348|-10.0348	11.178|11.178	0.48612|0.48612	0.0:0.073:0.0:0.927|0.0:0.073:0.0:0.927	.|.	105;114|28	P61244-2;P61244|G3V2N4	.;MAX_HUMAN|.	S|A	105;114;78;51;41|28	ENSP00000351175:N105S;ENSP00000351490:N114S;ENSP00000452405:N78S;ENSP00000450955:N51S;ENSP00000452206:N41S|.	ENSP00000351175:N105S|.	N|T	-|-	2|1	0|0	MAX|MAX	64613089|64613089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.654000|1.654000	0.37334|0.37334	1.068000|1.068000	0.40764|0.40764	0.482000|0.482000	0.46254|0.46254	AAC|ACT	MAX	-	NULL	ENSG00000125952		0.577	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	HGNC	protein_coding	OTTHUMT00000286386.1	-	0	58	0	T	NM_197957		65543336	-1	tier1	-	no_errors	ENST00000358664	ensembl	human	known	74_37	missense	45.45	29	25	SNP	1.000	C	C	65543336	T	C	65543336	3	2	96	1	0	0	0	0	1	0	0	0	9377	1725	60	4	230	4	MAX	14	65543336	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	40663027	65543336	41806204	72	27578											
HERC1	8925	genome.wustl.edu	37	chr15	64005610	64005610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggttgctgcaactgtccttCttctcttcgcttctgaagct	5	16	8	12	1	3	1	0	1	3	0	6	1	4	1	1	1	4	5	1	1	2	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr15:64005610C>T	ENST00000443617.2	-	23	4492	c.4405G>A	c.(4405-4407)Gaa>Aaa	p.E1469K	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1469					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AACTGTCCTTCTTCTCTTCGC	0.488																																																	0													90	89	89					15																	64005610		2029	4180	6209	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.4405G>A	15.37:g.64005610C>T	ENSP00000390158:p.Glu1469Lys		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.E1469K	ENST00000443617.2	37	c.4405	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892149	0.72524	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.26067	1.76	5.23	5.23	0.72850	.	0.203375	0.40469	N	0.001093	T	0.26521	0.0648	N	0.14661	0.345	0.48236	D	0.999611	D;B	0.54964	0.969;0.155	P;B	0.50192	0.634;0.021	T	0.08806	-1.0704	10	0.66056	D	0.02	.	19.1604	0.93529	0.0:1.0:0.0:0.0	.	453;1469	B4DKS2;Q15751	.;HERC1_HUMAN	K	1469;453	ENSP00000390158:E1469K	ENSP00000389613:E453K	E	-	1	0	HERC1	61792663	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.878000	0.75567	2.599000	0.87857	0.655000	0.94253	GAA	HERC1	-	NULL	ENSG00000103657		0.488	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	-	0	22	0	C	NM_003922		64005610	-1	tier1	-	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	T	T	64005610	C	T	64005610	3	4	96	1	0	0	0	0	1	0	0	0	7084	922	32	3	10404	3	HERC1	15	64005610	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		64005610	38525782	73	27579											
RASGRF1	5923	genome.wustl.edu	37	chr15	79310155	79310155	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttctcctgtctggacGaggccactaggatgactgta	7	11	11	12	1	2	1	0	1	2	0	3	4	2	3	3	3	1	1	3	3	2	3	rs141668129		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr15:79310155G>T	ENST00000419573.3	-	12	1974	c.1700C>A	c.(1699-1701)tCg>tAg	p.S567*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.S567*|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	567	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTCTGGACGAGGCCACTAG	0.542																																																	0													125	110	115					15																	79310155		2196	4293	6489	SO:0001587	stop_gained	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1700C>A	15.37:g.79310155G>T	ENSP00000405963:p.Ser567*		F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S567*	ENST00000419573.3	37	c.1700	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	41	8.799392	0.98958	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	.	.	.	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.5578	0.68113	0.0:0.0:1.0:0.0	.	.	.	.	X	567	.	ENSP00000378224:S567X	S	-	2	0	RASGRF1	77097210	1.000000	0.71417	0.968000	0.41197	0.786000	0.44442	9.441000	0.97557	2.262000	0.75019	0.467000	0.42956	TCG	RASGRF1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000058335		0.542	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0	54	0	G	NM_002891		79310155	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	nonsense	42.11	44	32	SNP	0.998	T	T	79310155	G	T	79310155	4	4	96	1	0	0	0	0	0	1	0	0	13117	1059	37	2	2189	2	RASGRF1	15	79310155	Nonsense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	15304545	79310155	23221237	74	27580											
NR2F2	7026	genome.wustl.edu	37	chr15	96877712	96877712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcccatgtccgccgacCgggtggtcgcctttatggac	4	10	12	15	5	0	0	0	0	0	0	3	2	1	1	5	3	0	0	5	3	1	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr15:96877712C>T	ENST00000394166.3	+	2	2239	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	NR2F2_ENST00000453270.2_Missense_Mutation_p.R131W|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Missense_Mutation_p.R151W|NR2F2_ENST00000394171.2_Missense_Mutation_p.R131W	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	284	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GTCCGCCGACCGGGTGGTCGC	0.637																																																	0													30	31	30					15																	96877712		2197	4298	6495	SO:0001583	missense	0			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"Nuclear hormone receptors"	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.850C>T	15.37:g.96877712C>T	ENSP00000377721:p.Arg284Trp		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R284W	ENST00000394166.3	37	c.850	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361385	0.82353	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	5.09	4.16	0.48862	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.49916	D	0.000121	D	0.98210	0.9408	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.953	D	0.98737	1.0715	10	0.87932	D	0	.	12.6428	0.56718	0.301:0.699:0.0:0.0	.	284;151	P24468;Q3KQR7	COT2_HUMAN;.	W	151;284;131;131	ENSP00000401674:R151W;ENSP00000377721:R284W;ENSP00000377726:R131W;ENSP00000389853:R131W	ENSP00000377721:R284W	R	+	1	2	NR2F2	94678716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.982000	0.40638	1.122000	0.41944	0.655000	0.94253	CGG	NR2F2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF	ENSG00000185551		0.637	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	-	0	44	0	C			96877712	1	tier1	-	no_errors	ENST00000394166	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	T	T	96877712	C	T	96877712	3	4	96	1	0	0	0	0	1	0	0	0	10667	643	23	1	903	1	NR2F2	15	96877712	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	17567557	96877712	5653680	75	27581											
TPSD1	23430	genome.wustl.edu	37	chr16	1306353	1306353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctggcgagcccggcctaCgtggcccctggtgagtccca	4	7	14	16	3	0	1	0	1	0	0	2	2	2	1	6	4	2	0	6	4	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:1306353C>T	ENST00000211076.3	+	1	220	c.72C>T	c.(70-72)taC>taT	p.Y24Y	TPSD1_ENST00000397534.2_Silent_p.Y17Y|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	24						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCCCGGCCTACGTGGCCCCTG	0.721																																																	0													30	38	36					16																	1306353		2197	4298	6495	SO:0001819	synonymous_variant	0			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"mMCP-7-like II", "mMCP-7-like I", "MMCP-7-LIKE-2"	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.72C>T	16.37:g.1306353C>T			O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.Y24	ENST00000211076.3	37	c.72	CCDS10432.1	16																																																																																			TPSD1	-	NULL	ENSG00000095917		0.721	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPSD1	HGNC	protein_coding	OTTHUMT00000250320.2	-	0	61	0	C			1306353	1	tier1	-	no_errors	ENST00000211076	ensembl	human	known	74_37	silent	43.64	31	24	SNP	0.000	T	T	1306353	C	T	1306353	2	4	96	1	0	0	0	0	0	0	0	1	16473	547	19	1		1	TPSD1	16	1306353	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		1306353	89048400	76	27582											
ATP6V0C	527	genome.wustl.edu	37	chr16	2569636	2569636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggggacgctggcgtgcggGgcaccgcccagcagccccga	5	3	18	15	5	0	0	0	0	0	0	0	2	0	1	4	5	3	3	4	5	0	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:2569636G>T	ENST00000330398.4	+	3	592	c.358G>T	c.(358-360)Ggc>Tgc	p.G120C	AMDHD2_ENST00000302956.4_5'Flank|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.G77C|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_3'UTR|RP11-20I23.1_ENST00000564543.1_3'UTR|AMDHD2_ENST00000413459.3_5'Flank|AMDHD2_ENST00000293971.6_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.G77C	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	120					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TGGCGTGCGGGGCACCGCCCA	0.687																																																	0													37	36	37					16																	2569636		2198	4300	6498	SO:0001583	missense	0			M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"ATPases / V-type"	855	protein-coding gene	gene with protein product		108745	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.358G>T	16.37:g.2569636G>T	ENSP00000329757:p.Gly120Cys		Q6FH26	Missense_Mutation	SNP	pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu,tigrfam_ATPase_proteolipid_su_C_euk	p.G120C	ENST00000330398.4	37	c.358	CCDS10470.1	16	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649801	0.67358	.	.	ENSG00000185883	ENST00000330398	T	0.50813	0.73	5.08	5.08	0.68730	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.91300	3.195	0.80722	D	1	P	0.39624	0.681	P	0.55999	0.789	T	0.79315	-0.1854	10	0.87932	D	0	-10.3241	17.1119	0.86678	0.0:0.0:1.0:0.0	.	120	P27449	VATL_HUMAN	C	120	ENSP00000329757:G120C	ENSP00000329757:G120C	G	+	1	0	ATP6V0C	2509637	1.000000	0.71417	0.990000	0.47175	0.068000	0.16541	9.752000	0.98900	2.383000	0.81215	0.485000	0.47835	GGC	ATP6V0C	-	pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu	ENSG00000185883		0.687	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0C	HGNC	protein_coding	OTTHUMT00000250810.1		0	19	0	G	NM_001694		2569636	1			no_errors	ENST00000330398	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	2569636	G	T	2569636	3	4	96	1	0	0	0	0	1	0	0	0	1173	1232	43	3	368	3	ATP6V0C	16	2569636	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	1263283	2569636	87785117	77	27583											
TEKT5	146279	genome.wustl.edu	37	chr16	10783831	10783831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctccacgttgtcatggaCcaaatcaatcccaatcctct	10	13	4	14	1	4	0	2	0	2	0	7	1	6	1	4	1	0	1	4	1	3	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:10783831C>T	ENST00000283025.2	-	2	687	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	206						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TTGTCATGGACCAAATCAATC	0.512																																																	0													114	97	103					16																	10783831		2197	4300	6497	SO:0001583	missense	0				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.616G>A	16.37:g.10783831C>T	ENSP00000283025:p.Val206Ile		A1L3Z3	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.V206I	ENST00000283025.2	37	c.616	CCDS10542.1	16	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028994	0.93518	.	.	ENSG00000153060	ENST00000283025	T	0.04360	3.64	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000033	T	0.28200	0.0696	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06110	-1.0845	10	0.54805	T	0.06	-51.5563	16.6509	0.85189	0.0:1.0:0.0:0.0	.	206	Q96M29	TEKT5_HUMAN	I	206	ENSP00000283025:V206I	ENSP00000283025:V206I	V	-	1	0	TEKT5	10691332	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.485000	0.66850	2.581000	0.87130	0.655000	0.94253	GTC	TEKT5	-	pfam_Tektin	ENSG00000153060		0.512	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	HGNC	protein_coding	OTTHUMT00000251963.1	-	0	38	0	C	NM_144674		10783831	-1	tier1	-	no_errors	ENST00000283025	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	10783831	C	T	10783831	3	4	96	1	0	0	0	0	1	0	0	0	15803	507	18	3	865	3	TEKT5	16	10783831	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	8214195	10783831	79570922	78	27584											
NUBP1	4682	genome.wustl.edu	37	chr16	10855708	10855708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagagtgcccctggatcCgctcataggtgggtgacccc	6	7	14	14	2	1	2	1	1	0	1	2	3	2	3	5	4	1	2	5	4	1	1	rs372446215	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:10855708C>T	ENST00000283027.5	+	9	831	c.812C>T	c.(811-813)cCg>cTg	p.P271L	TVP23A_ENST00000572980.1_Intron|NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Missense_Mutation_p.P260L	NM_002484.2	NP_002475.2			nucleotide binding protein 1											large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCCCTGGATCCGCTCATAGGT	0.652													C|||	3	0.000599042	0	0	5008	,	,		15327	0		0	False		,,,				2504	0.0031																0													40	42	41					16																	10855708		2197	4300	6497	SO:0001583	missense	0			U01833	CCDS10543.1, CCDS61839.1	16p13.13	2014-01-13	2011-05-19		ENSG00000103274	ENSG00000103274			8041	protein-coding gene	gene with protein product		600280	"nucleotide binding protein 1 (E.coli MinD like)", "nucleotide binding protein 1 (MinD homolog, E. coli)"	NBP1		7926816	Standard	NM_002484		Approved	NBP35	uc002daa.1	P53384	OTTHUMG00000129751	ENST00000283027.5:c.812C>T	16.37:g.10855708C>T	ENSP00000283027:p.Pro271Leu			Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Anion-transp_ATPase-like_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P271L	ENST00000283027.5	37	c.812	CCDS10543.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272057	0.80469	.	.	ENSG00000103274	ENST00000283027;ENST00000433392	T;T	0.43688	0.94;0.94	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.73380	0.773;0.98	T	0.68938	-0.5277	10	0.72032	D	0.01	-19.589	18.4159	0.90570	0.0:1.0:0.0:0.0	.	260;271	P53384-2;P53384	.;NUBP1_HUMAN	L	271;260	ENSP00000283027:P271L;ENSP00000409654:P260L	ENSP00000283027:P271L	P	+	2	0	NUBP1	10763209	1.000000	0.71417	0.573000	0.28510	0.338000	0.28826	7.376000	0.79658	2.642000	0.89623	0.655000	0.94253	CCG	NUBP1	-	superfamily_P-loop_NTPase	ENSG00000103274		0.652	NUBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBP1	HGNC	protein_coding	OTTHUMT00000251964.2	-	0	46	0	C	NM_002484		10855708	1	tier1	-	no_errors	ENST00000283027	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	T	T	10855708	C	T	10855708	3	4	96	1	0	0	0	0	1	0	0	0	10754	652	23	1	846	1	NUBP1	16	10855708	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	71877	10855708	79499045	79	27585											
TMC5	79838	genome.wustl.edu	37	chr16	19485599	19485599	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctacgttctcctgatccgGtaggtgatgtgtcgcgccca	5	12	12	12	4	2	2	0	2	2	0	5	2	3	2	3	2	1	2	3	2	2	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:19485599G>A	ENST00000396229.2	+	12	2839		c.e12+1		TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000564959.1_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGATCCGGTAGGTGATGT	0.498																																																	0													194	156	169					16																	19485599		2197	4300	6497	SO:0001630	splice_region_variant	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2090+1G>A	16.37:g.19485599G>A			Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Splice_Site	SNP	-	e10+1	ENST00000396229.2	37	c.2090+1	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658931	0.67586	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2127	0.73238	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC5	19393100	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.783000	0.68982	2.422000	0.82143	0.561000	0.74099	.	TMC5	-	-	ENSG00000103534		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1		0	62	0	G	NM_024780	Intron	19485599	1			no_errors	ENST00000396229	ensembl	human	known	74_37	splice_site	6.90	81	6	SNP	1.000	A	A	19485599	G	A	19485599	5	1	96	1	0	0	0	0	0	0	1	0	16035	1275	44	3	2443	3	TMC5	16	19485599	Splice_Site	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	8629891	19485599	70869154	80	27586											
PLA2G15	23659	genome.wustl.edu	37	chr16	68289855	68289855	+	Frame_Shift_Del	DEL	G	G	-																															cgtgtcactgggtgcgccctGggggggcgtggccaagaccc																										TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:68289855delG	ENST00000219345.5	+	5	772	c.689delG	c.(688-690)tggfs	p.W230fs	RP11-96D1.7_ENST00000569843.1_RNA|PLA2G15_ENST00000413021.2_Frame_Shift_Del_p.W136fs|PLA2G15_ENST00000444212.2_Intron|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000566188.1_Frame_Shift_Del_p.L188fs	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	230					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						GGTGCGCCCTGGGGGGGCGTG	0.627																																																	0													26	29	28					16																	68289855		2198	4300	6498	SO:0001589	frameshift_variant	0			AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"lysophospholipase 3 (lysosomal phospholipase A2)"	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.689delG	16.37:g.68289855delG	ENSP00000219345:p.Trp230fs		B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Frame_Shift_Del	DEL	pfam_LACT/PDAT_acylTrfase	p.G232fs	ENST00000219345.5	37	c.689	CCDS10864.1	16																																																																																			PLA2G15	-	pfam_LACT/PDAT_acylTrfase	ENSG00000103066		0.627	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G15	HGNC	protein_coding	OTTHUMT00000268888.2		0	49	0	G	NM_012320		68289855	1	tier1		no_errors	ENST00000219345	ensembl	human	known	74_37	frame_shift_del	9.09	20	2	DEL	1.000	-	-	68289855	G	-	68289855	7	5	96	1	0	1	0	1	0	0	0	0	12031	1357	47	0	707	0	PLA2G15	16	68289855	Frame_Shift_Del	DEL	G	TCGA-L7-A56G-01A-21D-A27G-09	48804256	68289855	22064898	81	27587											
ADAMTS18	170692	genome.wustl.edu	37	chr16	77323161	77323161	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatggtgcctttttacCtctcttttcaggagctggac	6	14	11	10	0	2	0	1	0	1	0	3	3	2	3	2	4	4	2	2	4	1	5			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr16:77323161C>A	ENST00000282849.5	-	22	3968	c.3550G>T	c.(3550-3552)Gag>Tag	p.E1184*	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1184	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCCTTTTTACCTCTCTTTTCA	0.443																																																	0													180	194	189					16																	77323161		2198	4300	6498	SO:0001630	splice_region_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"ADAM metallopeptidases with thrombospondin type 1 motif"	17110	protein-coding gene	gene with protein product		607512	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3550+1G>T	16.37:g.77323161C>A			Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E1184*	ENST00000282849.5	37	c.3550	CCDS10926.1	16	.	.	.	.	.	.	.	.	.	.	C	47	13.149036	0.99723	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.77	5.77	0.91146	.	0.344220	0.30911	N	0.008623	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9804	0.92754	0.0:1.0:0.0:0.0	.	.	.	.	X	1184	.	.	E	-	1	0	ADAMTS18	75880662	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.947000	0.63583	2.740000	0.93945	0.557000	0.71058	GAG	ADAMTS18	-	pfscan_PLAC	ENSG00000140873		0.443	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	-	0	53	0	C		Nonsense_Mutation	77323161	-1	tier1	-	no_errors	ENST00000282849	ensembl	human	known	74_37	nonsense	25.00	30	10	SNP	1.000	A	A	77323161	C	A	77323161	5	1	96	1	0	0	0	0	0	0	1	0	263	695	24	3	123	3	ADAMTS18	16	77323161	Splice_Site	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	9033306	77323161	13031592	82	27588											
TP53	7157	genome.wustl.edu	37	chr17	7577530	7577530	+	Missense_Mutation	SNP	T	T	A																															cagtgtgatgatggtgaggaTgggcctccggttcatgccgc																										TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:7577530T>A	ENST00000269305.4	-	7	940	c.751A>T	c.(751-753)Atc>Ttc	p.I251F	TP53_ENST00000455263.2_Missense_Mutation_p.I251F|TP53_ENST00000359597.4_Missense_Mutation_p.I251F|TP53_ENST00000420246.2_Missense_Mutation_p.I251F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.I251F|TP53_ENST00000413465.2_Missense_Mutation_p.I251F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I251F(9)|p.0?(8)|p.I251fs*94(6)|p.I251L(5)|p.I251_T253delILT(4)|p.I251del(2)|p.I251V(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.P250_I251insXXXXXX(1)|p.P250_I251insX(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)|p.I251fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGAGGATGGGCCTCCGG	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	47	Substitution - Missense(16)|Deletion - In frame(11)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - In frame(3)|Insertion - Frameshift(2)	stomach(9)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|liver(3)|urinary_tract(2)|lung(2)|oesophagus(2)|skin(1)											153	111	126					17																	7577530		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.751A>T	17.37:g.7577530T>A	ENSP00000269305:p.Ile251Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I251F	ENST00000269305.4	37	c.751	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175686	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.82323	2.585	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.992;0.999;0.997;1.0	D	0.96557	0.9412	10	0.87932	D	0	-1.7057	12.3101	0.54924	0.0:0.0:0.0:1.0	.	251;251;251;251;251	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	F	251;251;251;251;251;251;240;119	ENSP00000410739:I251F;ENSP00000352610:I251F;ENSP00000269305:I251F;ENSP00000398846:I251F;ENSP00000391127:I251F;ENSP00000391478:I251F;ENSP00000425104:I119F	ENSP00000269305:I251F	I	-	1	0	TP53	7518255	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	7.824000	0.86668	2.074000	0.62210	0.379000	0.24179	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	269	0	T	NM_000546		7577530	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	58.37	97	136	SNP	1.000	A	A	7577530	T	A	7577530	3	1	96	1	0	0	0	0	1	0	0	0	16429	1464	51	5	539	5	TP53	17	7577530	Missense_Mutation	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09		7577530	73617680	83	27589	102	2									
TP53	7157	genome.wustl.edu	37	chr17	7577535	7577536	+	Missense_Mutation	DNP	CT	CT	AA																															tgatgatggtgaggatgggcCtccggttcatgccgcccatg																								rs587782329|rs587782082		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:7577535_7577536CT>AA	ENST00000269305.4	-	7	934_935	c.745_746AG>TT	c.(745-747)AGg>TTg	p.R249L	TP53_ENST00000455263.2_Missense_Mutation_p.R249L|TP53_ENST00000359597.4_Missense_Mutation_p.R249L|TP53_ENST00000420246.2_Missense_Mutation_p.R249L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R249L|TP53_ENST00000413465.2_Missense_Mutation_p.R249L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249M(38)|p.R249W(37)|p.R249G(30)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(5)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.R249R(1)|p.N247_R248delNR(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249fs*19(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.G245fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGATGGGCCTCCGGTTCATG	0.569		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	174	Substitution - Missense(141)|Deletion - In frame(9)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)|Substitution - coding silent(1)	lung(44)|upper_aerodigestive_tract(21)|large_intestine(13)|breast(13)|urinary_tract(11)|oesophagus(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|liver(8)|central_nervous_system(5)|biliary_tract(5)|skin(5)|ovary(5)|bone(4)|soft_tissue(3)|endometrium(3)|pancreas(3)|adrenal_gland(2)|peritoneum(1)|small_intestine(1)|prostate(1)																																								SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.745_746delinsAA	17.37:g.7577535_7577536delinsAA	ENSP00000269305:p.Arg249Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R249M|p.R249W	ENST00000269305.4	37	c.746|c.745	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.569	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	270|269	0	C|T	NM_000546		7577535|7577536	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	55.00|53.39	99|100	121|118	SNP	1.000|0.998	A	AA	7577536	CT	AA	7577535	3	1	96	1	0	0	0	0	1	0	0	0	16429	681	24	3	544	3	TP53	17	7577535	Missense_Mutation	DNP	CT	TCGA-L7-A56G-01A-21D-A27G-09	5	7577535	73617675	84	27590	102	2									
SLC47A1	55244	genome.wustl.edu	37	chr17	19480714	19480714	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcagtcagatcagcagAtgcgccaagaagaacctttg	13	7	10	11	1	3	4	3	0	0	4	3	4	3	4	3	0	4	1	3	0	3	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:19480714A>T	ENST00000270570.4	+	17	1647	c.1561A>T	c.(1561-1563)Atg>Ttg	p.M521L	SLC47A1_ENST00000395585.1_Missense_Mutation_p.M521L|SLC47A1_ENST00000571335.1_Missense_Mutation_p.M267L|SLC47A1_ENST00000436810.2_3'UTR|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000575023.1_Missense_Mutation_p.M219L|SLC47A1_ENST00000457293.1_Missense_Mutation_p.M521L|AC025627.7_ENST00000420951.1_RNA	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	521					organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|monovalent cation:proton antiporter activity (GO:0005451)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)				Aciclovir(DB00787)|Bromodiphenhydramine(DB01237)|Cephalexin(DB00567)|Cimetidine(DB00501)|Metformin(DB00331)|Sirolimus(DB00877)	AGATCAGCAGATGCGCCAAGA	0.537																																																	0													121	120	120					17																	19480714		2203	4300	6503	SO:0001583	missense	0				CCDS11209.1	17p11.2	2013-07-17	2013-07-17		ENSG00000142494	ENSG00000142494		"Solute carriers"	25588	protein-coding gene	gene with protein product	"multidrug and toxin extrusion 1"	609832				16330770, 16996621, 16928787	Standard	NM_018242		Approved	FLJ10847, MATE1	uc002gvy.1	Q96FL8	OTTHUMG00000059466	ENST00000270570.4:c.1561A>T	17.37:g.19480714A>T	ENSP00000270570:p.Met521Leu		Q53HF5|Q6PD77|Q86VL4|Q9NVA3	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.M521L	ENST00000270570.4	37	c.1561	CCDS11209.1	17	.	.	.	.	.	.	.	.	.	.	A	2.048	-0.418481	0.04766	.	.	ENSG00000142494	ENST00000270570;ENST00000457293;ENST00000395585;ENST00000455670;ENST00000424755	T;T;T	0.28255	1.63;1.62;1.62	4.31	-2.02	0.07388	.	1.938090	0.01915	N	0.040113	T	0.24509	0.0594	L	0.50919	1.6	0.23916	N	0.996477	B;B;B;B	0.12013	0.001;0.001;0.0;0.005	B;B;B;B	0.09377	0.0;0.001;0.0;0.004	T	0.10314	-1.0635	10	0.10377	T	0.69	-2.2825	5.3541	0.16051	0.3527:0.1857:0.4616:0.0	.	196;196;521;521	E7ENC3;B4DDH5;Q96FL8;Q96FL8-3	.;.;S47A1_HUMAN;.	L	521;521;521;196;233	ENSP00000270570:M521L;ENSP00000415586:M521L;ENSP00000378951:M521L	ENSP00000270570:M521L	M	+	1	0	SLC47A1	19421306	0.000000	0.05858	0.013000	0.15412	0.020000	0.10135	-0.378000	0.07446	-0.261000	0.09405	-0.464000	0.05259	ATG	SLC47A1	-	NULL	ENSG00000142494		0.537	SLC47A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC47A1	HGNC	protein_coding	OTTHUMT00000132250.1	-	0	39	0	A	NM_018242		19480714	1	tier1	-	no_errors	ENST00000395585	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.007	T	T	19480714	A	T	19480714	3	4	96	1	0	0	0	0	1	0	0	0	14692	333	12	5	1627	5	SLC47A1	17	19480714	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	11903179	19480714	61714496	85	27591											
GH1	2688	genome.wustl.edu	37	chr17	61995831	61995831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagccagggcaggcagaGcaggccaaaagccaggagca	14	2	15	10	0	0	2	0	1	0	1	0	3	0	3	3	4	4	4	3	4	3	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:61995831G>A	ENST00000323322.5	-	2	88	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000458650.2_Missense_Mutation_p.L16F|GH1_ENST00000351388.4_Missense_Mutation_p.L16F|GH1_ENST00000342364.4_Missense_Mutation_p.L16F	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	16			L -> P (in IGHD1B; suppresses secretion). {ECO:0000269|PubMed:12655557}.		bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGCAGGCAGAGCAGGCCAAAA	0.622																																																	0													101	105	104					17																	61995831		2203	4300	6503	SO:0001583	missense	0			M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"Endogenous ligands"	4261	protein-coding gene	gene with protein product	"pituitary growth hormone", "somatotropin"	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.46C>T	17.37:g.61995831G>A	ENSP00000312673:p.Leu16Phe		A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.L16F	ENST00000323322.5	37	c.46	CCDS11653.1	17	.	.	.	.	.	.	.	.	.	.	g	12.02	1.813254	0.32053	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	2.86	1.87	0.25490	.	0.417567	0.23964	N	0.042834	D	0.97099	0.9052	M	0.89163	3.01	0.28064	N	0.932866	D;B;D;D;D	0.76494	0.999;0.035;0.972;0.998;0.997	D;B;D;D;D	0.83275	0.996;0.02;0.968;0.986;0.986	D	0.90929	0.4789	10	0.87932	D	0	.	5.079	0.14647	0.1701:0.0:0.8299:0.0	.	16;16;16;16;16	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	F	16	ENSP00000312673:L16F;ENSP00000408486:L16F;ENSP00000343791:L16F;ENSP00000339278:L16F	ENSP00000312673:L16F	L	-	1	0	GH1	59349563	1.000000	0.71417	0.998000	0.56505	0.118000	0.20060	3.729000	0.54999	1.594000	0.50039	0.298000	0.19748	CTC	GH1	-	pfam_Somatotropin	ENSG00000259384		0.622	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GH1	HGNC	protein_coding	OTTHUMT00000417708.1	-	0	40	0	G	NM_000515		61995831	-1	tier1	-	no_errors	ENST00000323322	ensembl	human	known	74_37	missense	9.68	56	6	SNP	0.940	A	A	61995831	G	A	61995831	3	1	96	1	0	0	0	0	1	0	0	0	6393	971	34	3	623	3	GH1	17	61995831	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	42515117	61995831	19199379	86	27592											
GPR142	350383	genome.wustl.edu	37	chr17	72367895	72367895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccgcagtggccctggCgcgccttgccaccaggacca	6	5	12	18	3	0	1	0	1	0	0	0	2	0	2	7	3	1	1	7	3	0	1	rs552309071		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr17:72367895C>T	ENST00000335666.4	+	4	593	c.545C>T	c.(544-546)gCg>gTg	p.A182V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	182						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTGGCCCTGGCGCGCCTTGCC	0.627													C|||	1	0.000199681	0	0.0014	5008	,	,		19709	0		0	False		,,,				2504	0																0													47	41	43					17																	72367895		2203	4300	6503	SO:0001583	missense	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"GPCR / Class A : Orphans"	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.545C>T	17.37:g.72367895C>T	ENSP00000335158:p.Ala182Val		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A182V	ENST00000335666.4	37	c.545	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	C	7.989	0.752960	0.15778	.	.	ENSG00000257008	ENST00000335666	T	0.68331	-0.32	4.56	1.34	0.21922	GPCR, rhodopsin-like superfamily (1);	0.431479	0.24742	N	0.035976	T	0.66626	0.2808	L	0.44542	1.39	0.24752	N	0.992974	P;D	0.63880	0.729;0.993	B;P	0.54889	0.183;0.763	T	0.62081	-0.6929	10	0.16420	T	0.52	-3.6999	15.3208	0.74120	0.0:0.6048:0.3952:0.0	.	182;1144	Q7Z601;Q8NGB0	GP142_HUMAN;.	V	182	ENSP00000335158:A182V	ENSP00000335158:A182V	A	+	2	0	GPR142	69879490	1.000000	0.71417	0.998000	0.56505	0.396000	0.30629	0.820000	0.27323	0.220000	0.20860	-0.255000	0.11280	GCG	GPR142	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000257008		0.627	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	-	0	31	0	C	NM_181790		72367895	1	tier1	-	no_errors	ENST00000335666	ensembl	human	known	74_37	missense	20.00	32	8	SNP	1.000	T	T	72367895	C	T	72367895	3	4	96	1	0	0	0	0	1	0	0	0	6676	768	27	1	559	1	GPR142	17	72367895	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	10372064	72367895	8827315	87	27593											
MAP2K2	5605	genome.wustl.edu	37	chr19	4099225	4099225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggcgcccggggggcctcGgccgaggcgagatgctgtga	4	4	21	12	6	0	2	0	1	0	1	1	4	0	2	3	7	1	1	3	7	0	0	rs200371894	byFrequency	TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:4099225G>T	ENST00000262948.5	-	7	1146	c.893C>A	c.(892-894)cCg>cAg	p.P298Q	MAP2K2_ENST00000599345.1_5'Flank|MAP2K2_ENST00000394867.4_Missense_Mutation_p.P201Q	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	298	Pro-rich.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GGGGGGCCTCGGCCGAGGCGA	0.706																																																	0																																										SO:0001583	missense	0			L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"Mitogen-activated protein kinase cascade / Kinase kinases"	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.893C>A	19.37:g.4099225G>T	ENSP00000262948:p.Pro298Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P298Q	ENST00000262948.5	37	c.893	CCDS12120.1	19	.	.	.	.	.	.	.	.	.	.	g	16.75	3.210050	0.58343	.	.	ENSG00000126934	ENST00000262948;ENST00000394867	D;D	0.92446	-3.04;-3.04	4.44	4.44	0.53790	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059556	0.64402	D	0.000002	D	0.87099	0.6093	L	0.28649	0.875	0.80722	D	1	B	0.12630	0.006	B	0.20577	0.03	T	0.83196	-0.0081	10	0.33141	T	0.24	-35.1495	15.0001	0.71464	0.0:0.0:1.0:0.0	.	298	P36507	MP2K2_HUMAN	Q	298;201	ENSP00000262948:P298Q;ENSP00000378336:P201Q	ENSP00000262948:P298Q	P	-	2	0	MAP2K2	4050225	1.000000	0.71417	0.900000	0.35374	0.819000	0.46315	6.726000	0.74758	2.204000	0.70986	0.478000	0.44815	CCG	MAP2K2	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000126934		0.706	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K2	HGNC	protein_coding	OTTHUMT00000258957.2		0	56	0	G			4099225	-1			no_errors	ENST00000262948	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	4099225	G	T	4099225	3	4	96	1	0	0	0	0	1	0	0	0	9275	1116	39	2	329	2	MAP2K2	19	4099225	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09		4099225	55029758	88	27594											
NOTCH3	4854	genome.wustl.edu	37	chr19	15300089	15300089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctcccctcaccgataGagcactcgtccacatcctgg	8	8	9	16	2	1	1	1	0	0	1	5	3	4	2	5	2	2	2	5	2	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15300089G>T	ENST00000263388.2	-	7	1262	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	396	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTCACCGATAGAGCACTCGTC	0.632																																																	0													82	80	81					19																	15300089		2203	4300	6503	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1187C>A	19.37:g.15300089G>T	ENSP00000263388:p.Ser396Tyr		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S396Y	ENST00000263388.2	37	c.1187	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651856	0.67472	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92249	-3.0	4.68	4.68	0.58851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.95430	0.8516	M	0.70787	2.145	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.967;0.979	D	0.96064	0.9041	9	0.87932	D	0	.	16.3746	0.83381	0.0:0.0:1.0:0.0	.	399;396	Q59FL3;Q9UM47	.;NOTC3_HUMAN	Y	396;398	ENSP00000263388:S396Y	ENSP00000263388:S396Y	S	-	2	0	NOTCH3	15161089	1.000000	0.71417	1.000000	0.80357	0.410000	0.31052	9.284000	0.95882	2.154000	0.67381	0.491000	0.48974	TCT	NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.632	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	54	0	G	NM_000435		15300089	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	51.52	48	51	SNP	1.000	T	T	15300089	G	T	15300089	3	4	96	1	0	0	0	0	1	0	0	0	10589	942	33	3	5886	3	NOTCH3	19	15300089	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	11200864	15300089	43828894	89	27595			1	24		4	4	3104	G		1.871611e-07
NOTCH3	4854	genome.wustl.edu	37	chr19	15300181	15300181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaccggatttgtgtcacaGatagcatcctcgtggcaggg	8	11	12	10	2	2	1	2	0	0	1	4	2	3	2	2	3	1	2	2	3	1	3			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15300181G>A	ENST00000263388.2	-	7	1170	c.1095C>T	c.(1093-1095)atC>atT	p.I365I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	365	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGTGTCACAGATAGCATCCT	0.587																																																	0													94	98	97					19																	15300181		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1095C>T	19.37:g.15300181G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.I365	ENST00000263388.2	37	c.1095	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.587	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	37	0	G	NM_000435		15300181	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	52.24	32	35	SNP	1.000	A	A	15300181	G	A	15300181	2	1	96	1	0	0	0	0	0	0	0	1	10589	932	33	3		3	NOTCH3	19	15300181	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	92	15300181	43828802	90	27596			1	24		4	4	3104	G		1.871611e-07
NOTCH3	4854	genome.wustl.edu	37	chr19	15300208	15300208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcgtggcaggggttgctGacacaggcgtcatccaggtg	6	9	15	11	2	1	1	1	1	0	0	4	1	3	1	2	5	1	3	2	5	0	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15300208G>A	ENST00000263388.2	-	7	1143	c.1068C>T	c.(1066-1068)gtC>gtT	p.V356V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	356	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGGGTTGCTGACACAGGCGT	0.597																																																	0													87	92	90					19																	15300208		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1068C>T	19.37:g.15300208G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.V356	ENST00000263388.2	37	c.1068	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.597	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	21	0	G	NM_000435		15300208	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	50.91	27	28	SNP	1.000	A	A	15300208	G	A	15300208	2	1	96	1	0	0	0	0	0	0	0	1	10589	1277	45	3		3	NOTCH3	19	15300208	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	27	15300208	43828775	91	27597			1	24		4	4	3104	G		1.871611e-07
NOTCH3	4854	genome.wustl.edu	37	chr19	15303192	15303192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcttcccctctcacctcgGaagccacgggggcaccggca	7	6	10	18	3	2	0	1	0	2	0	5	1	3	1	5	4	1	2	5	4	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:15303192G>A	ENST00000263388.2	-	3	411	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	112	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCTCACCTCGGAAGCCACGGG	0.657																																																	0													29	26	27					19																	15303192		2203	4295	6498	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.336C>T	19.37:g.15303192G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.F112	ENST00000263388.2	37	c.336	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.657	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	84	0	G	NM_000435		15303192	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	57.43	63	85	SNP	1.000	A	A	15303192	G	A	15303192	2	1	96	1	0	0	0	0	0	0	0	1	10589	1165	41	3		3	NOTCH3	19	15303192	Silent	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	2984	15303192	43825791	92	27598			1	24		4	4	3104	G		1.871611e-07
NWD1	284434	genome.wustl.edu	37	chr19	16918782	16918782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggggacctctttctttaCgagtgtgcaacttccaaagc	10	12	9	10	1	2	0	0	0	2	0	3	2	3	1	2	2	4	1	2	2	4	4			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:16918782C>T	ENST00000552788.1	+	16	4122	c.4122C>T	c.(4120-4122)taC>taT	p.Y1374Y	NWD1_ENST00000523826.1_Silent_p.Y1168Y|NWD1_ENST00000339803.6_Silent_p.Y1239Y|NWD1_ENST00000549814.1_Silent_p.Y1332Y|NWD1_ENST00000379808.3_Silent_p.Y1374Y|NWD1_ENST00000524140.2_Silent_p.Y1374Y			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1374							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTTTCTTTACGAGTGTGCAA	0.577																																																	0													181	159	167					19																	16918782		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"WD repeat domain containing"	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4122C>T	19.37:g.16918782C>T			C9J021|Q68CT3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y1374	ENST00000552788.1	37	c.4122		19																																																																																			NWD1	-	superfamily_WD40_repeat_dom	ENSG00000188039		0.577	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	-	0	44	0	C	NM_001007525		16918782	1	tier1	-	no_errors	ENST00000379808	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.995	T	T	16918782	C	T	16918782	2	4	96	1	0	0	0	0	0	0	0	1	10820	547	19	1		1	NWD1	19	16918782	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	1615590	16918782	42210201	93	27599											
SELV	348303	genome.wustl.edu	37	chr19	40006041	40006041	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcccctctggtcctgacTcctgctccagcccagattcc	5	11	6	19	0	1	2	0	1	1	1	6	2	6	2	7	1	2	1	7	1	0	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:40006041T>C	ENST00000335426.4	+	1	289	c.189T>C	c.(187-189)acT>acC	p.T63T	SELV_ENST00000423711.1_Silent_p.T63T	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		63					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			tggtcctgactcctgctccag	0.692																																																	0													33	42	39					19																	40006041		1604	3063	4667	SO:0001819	synonymous_variant	0																														ENST00000335426.4:c.189T>C	19.37:g.40006041T>C			Q17RG5	Silent	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.T63	ENST00000335426.4	37	c.189	CCDS54266.1	19																																																																																			SELV	-	NULL	ENSG00000186838		0.692	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_gn	protein_coding	OTTHUMT00000389802.1	-	0	37	0	T			40006041	1	tier1	-	no_errors	ENST00000423711	ensembl	human	known	74_37	silent	17.07	34	7	SNP	0.017	C	C	40006041	T	C	40006041	2	2	96	1	0	0	0	0	0	0	0	1	14068	1538	54	4		4	SELV	19	40006041	Silent	SNP	T	TCGA-L7-A56G-01A-21D-A27G-09	23087259	40006041	19122942	94	27600											
CEACAM20	125931	genome.wustl.edu	37	chr19	45015728	45015728	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggaaggtctggtggttgCatctggggaaaaacaaagtt	11	11	14	5	0	3	0	0	0	3	0	3	2	3	2	0	6	2	3	0	6	4	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:45015728C>A	ENST00000454753.1	-	0	1857							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGGTGGTTGCATCTGGGGAA	0.448																																																	0													42	41	42					19																	45015728		1855	4086	5941			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Immunoglobulin superfamily / I-set domain containing"	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015728C>A				RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.448	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	-	0	40	0	C	NM_198444		45015728	-1	tier1	-	no_errors	ENST00000316962	ensembl	human	known	74_37	rna	14.00	43	7	SNP	0.001	A	A	45015728	C	A	45015728	1	1	96	0	1	0	0	0	0	0	0	0	3198	710	25	3		3	CEACAM20	19	45015728	RNA	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	5009687	45015728	14113255	95	27601											
AKT1S1	84335	genome.wustl.edu	37	chr19	50376254	50376255	+	Nonsense_Mutation	DNP	CT	CT	TA																															cgtcctcctcgttgtcctctCtggccagggtaggccggggt																										TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:50376254_50376255CT>TA	ENST00000391833.1	-	1	2287_2288	c.298_299AG>TA	c.(298-300)AGa>TAa	p.R100*	AKT1S1_ENST00000344175.5_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391831.1_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391834.2_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391832.3_Nonsense_Mutation_p.R100*|AKT1S1_ENST00000391835.1_Nonsense_Mutation_p.R120*	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GTTGTCCTCTCTGGCCAGGGTA	0.673																																																	0																																										SO:0001587	stop_gained	0			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.298_299delinsTA	19.37:g.50376254_50376255delinsTA	ENSP00000375709:p.Arg100*			Missense_Mutation|Nonsense_Mutation	SNP	NULL	p.R100K|p.R100*	ENST00000391833.1	37	c.299|c.298	CCDS12784.1	19																																																																																			AKT1S1	-	NULL	ENSG00000204673		0.673	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1		0	62	0	C|T	NM_032375		50376254|50376255	-1			no_errors	ENST00000344175	ensembl	human	known	74_37	missense|nonsense	16.13|19.57	38|37	10|9	SNP	0.097|0.008	T|A	TA	50376255	CT	TA	50376254	4	4	96	1	0	0	0	0	0	1	0	0	479	913	32	3	487	3	AKT1S1	19	50376254	Nonsense_Mutation	DNP	CT	TCGA-L7-A56G-01A-21D-A27G-09	5360526	50376254	8752729	96	27602	103	2									
AKT1S1	84335	genome.wustl.edu	37	chr19	50376260	50376260	+	Missense_Mutation	SNP	A	A	G																															cctcgttgtcctctctggccAgggtaggccggggtgggctg																										TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:50376260A>G	ENST00000391833.1	-	1	2282	c.293T>C	c.(292-294)cTg>cCg	p.L98P	AKT1S1_ENST00000344175.5_Missense_Mutation_p.L98P|AKT1S1_ENST00000391831.1_Missense_Mutation_p.L98P|AKT1S1_ENST00000391834.2_Missense_Mutation_p.L98P|AKT1S1_ENST00000391832.3_Missense_Mutation_p.L98P|AKT1S1_ENST00000391835.1_Missense_Mutation_p.L118P	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTCTCTGGCCAGGGTAGGCCG	0.667																																																	0													29	24	25					19																	50376260		2193	4288	6481	SO:0001583	missense	0			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"proline-rich Akt substrate, 40 kDa"	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.293T>C	19.37:g.50376260A>G	ENSP00000375709:p.Leu98Pro			Missense_Mutation	SNP	NULL	p.L98P	ENST00000391833.1	37	c.293	CCDS12784.1	19	.	.	.	.	.	.	.	.	.	.	A	12.24	1.879191	0.33162	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831;ENST00000391830	T;T;T;T;T;T;T	0.53640	0.62;0.62;0.62;0.62;0.61;0.62;0.7	4.26	2.03	0.26663	.	0.626182	0.14274	N	0.329979	T	0.21590	0.0520	N	0.08118	0	0.22811	N	0.998703	B	0.02656	0.0	B	0.01281	0.0	T	0.11567	-1.0582	10	0.27785	T	0.31	-6.6796	2.8644	0.05596	0.6058:0.0:0.2085:0.1857	.	98	Q96B36	AKTS1_HUMAN	P	98;98;98;98;118;98;98	ENSP00000375709:L98P;ENSP00000341698:L98P;ENSP00000375708:L98P;ENSP00000375710:L98P;ENSP00000375711:L118P;ENSP00000375707:L98P;ENSP00000375706:L98P	ENSP00000341698:L98P	L	-	2	0	AKT1S1	55068072	0.528000	0.26314	0.980000	0.43619	0.401000	0.30781	0.626000	0.24492	0.698000	0.31739	0.459000	0.35465	CTG	AKT1S1	-	NULL	ENSG00000204673		0.667	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1		0	61	0	A	NM_032375		50376260	-1			no_errors	ENST00000344175	ensembl	human	known	74_37	missense	18.18	35	8	SNP	0.094	G	G	50376260	A	G	50376260	3	3	96	1	0	0	0	0	1	0	0	0	479	188	7	4	493	4	AKT1S1	19	50376260	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	6	50376260	8752723	97	27603	103	2									
ZNF524	147807	genome.wustl.edu	37	chr19	56114128	56114128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacacgctccggcgccatgCgaagcgcaagcacccggagg	10	2	13	16	6	0	0	0	0	0	0	1	2	1	1	3	3	4	3	3	3	3	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr19:56114128C>T	ENST00000591046.1	+	1	884	c.650C>T	c.(649-651)gCg>gTg	p.A217V	ZNF865_ENST00000568956.1_5'Flank|ZNF524_ENST00000301073.3_Missense_Mutation_p.A217V			Q96C55	ZN524_HUMAN	zinc finger protein 524	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGGCGCCATGCGAAGCGCAAG	0.701																																																	0													17	16	17					19																	56114128		2150	4190	6340	SO:0001583	missense	0			BC014666	CCDS12929.1	19q13.43	2013-01-08				ENSG00000171443		"Zinc fingers, C2H2-type"	28322	protein-coding gene	gene with protein product						12477932	Standard	NM_153219		Approved	MGC23143	uc002qlk.1	Q96C55		ENST00000591046.1:c.650C>T	19.37:g.56114128C>T	ENSP00000466907:p.Ala217Val		Q6NW31|Q96IL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A217V	ENST00000591046.1	37	c.650	CCDS12929.1	19	.	.	.	.	.	.	.	.	.	.	C	9.896	1.205481	0.22205	.	.	ENSG00000171443	ENST00000301073	T	0.36520	1.25	2.99	1.9	0.25705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16514	0.0397	N	0.14661	0.345	0.25566	N	0.986942	P	0.39737	0.685	B	0.21708	0.036	T	0.08493	-1.0719	9	0.72032	D	0.01	.	8.6723	0.34159	0.2401:0.7599:0.0:0.0	.	217	Q96C55	ZN524_HUMAN	V	217	ENSP00000301073:A217V	ENSP00000301073:A217V	A	+	2	0	ZNF524	60805940	0.019000	0.18553	0.996000	0.52242	0.990000	0.78478	0.791000	0.26915	0.765000	0.33221	0.561000	0.74099	GCG	ZNF524	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171443		0.701	ZNF524-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF524	HGNC	protein_coding	OTTHUMT00000457938.1	-	0	50	0	C	NM_153219		56114128	1	tier1	-	no_errors	ENST00000301073	ensembl	human	known	74_37	missense	32.91	53	26	SNP	1.000	T	T	56114128	C	T	56114128	3	4	96	1	0	0	0	0	1	0	0	0	18014	768	27	1	652	1	ZNF524	19	56114128	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	5737868	56114128	3014855	98	27604											
KIF3B	9371	genome.wustl.edu	37	chr20	30918046	30918046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccaggctgcattggatgcgGctctgcaggatgaagatgag	9	9	15	8	1	1	3	0	2	1	1	2	5	2	5	1	4	3	4	1	4	1	1			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr20:30918046G>T	ENST00000375712.3	+	8	2238	c.2071G>T	c.(2071-2073)Gct>Tct	p.A691S	KIF3B_ENST00000418717.2_Missense_Mutation_p.A317S	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	691	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATTGGATGCGGCTCTGCAGGA	0.512																																																	0													89	84	86					20																	30918046		2203	4300	6503	SO:0001583	missense	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"Kinesins"	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2071G>T	20.37:g.30918046G>T	ENSP00000364864:p.Ala691Ser		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A691S	ENST00000375712.3	37	c.2071	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920363	0.92249	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.76839	-1.05;0.09	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.87172	0.6111	M	0.69523	2.12	0.80722	D	1	D;D	0.61697	0.99;0.984	D;D	0.70935	0.971;0.935	D	0.88415	0.3024	10	0.66056	D	0.02	.	18.0393	0.89314	0.0:0.0:1.0:0.0	.	317;691	B4DSR5;O15066	.;KIF3B_HUMAN	S	691;317	ENSP00000364864:A691S;ENSP00000406287:A317S	ENSP00000364864:A691S	A	+	1	0	KIF3B	30381707	1.000000	0.71417	0.969000	0.41365	0.863000	0.49368	9.100000	0.94213	2.559000	0.86315	0.655000	0.94253	GCT	KIF3B	-	NULL	ENSG00000101350		0.512	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1		0	35	0	G	NM_004798		30918046	1			no_errors	ENST00000375712	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	30918046	G	T	30918046	3	4	96	1	0	0	0	0	1	0	0	0	8328	1203	42	3	2097	3	KIF3B	20	30918046	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09		30918046	32107474	99	27605											
SYCP2	10388	genome.wustl.edu	37	chr20	58496487	58496487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcattttttcttaaagcatCatcaatgcatttttccaact	12	18	2	9	0	4	0	3	0	1	0	5	0	5	0	1	0	3	2	1	0	4	6			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr20:58496487C>T	ENST00000357552.3	-	4	271	c.46G>A	c.(46-48)Gat>Aat	p.D16N	SYCP2_ENST00000371001.2_Missense_Mutation_p.D16N|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	16					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTTAAAGCATCATCAATGCAT	0.289																																																	0													39	38	38					20																	58496487		2201	4284	6485	SO:0001583	missense	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.46G>A	20.37:g.58496487C>T	ENSP00000350162:p.Asp16Asn		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.D16N	ENST00000357552.3	37	c.46	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732446	0.48939	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834;ENST00000425931	T;T;T;T	0.52526	2.22;2.22;1.97;0.66	5.04	1.98	0.26296	.	0.265029	0.33023	N	0.005370	T	0.35335	0.0928	L	0.51422	1.61	0.26340	N	0.977382	B	0.20671	0.047	B	0.20955	0.032	T	0.26224	-1.0109	10	0.49607	T	0.09	-9.9927	3.4803	0.07599	0.1391:0.5793:0.1346:0.147	.	16	Q9BX26	SYCP2_HUMAN	N	16;16;16;15	ENSP00000360040:D16N;ENSP00000350162:D16N;ENSP00000402456:D16N;ENSP00000399300:D15N	ENSP00000350162:D16N	D	-	1	0	SYCP2	57929882	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	1.907000	0.39897	0.633000	0.30452	-0.518000	0.04402	GAT	SYCP2	-	NULL	ENSG00000196074		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	-	0	29	0	C	NM_014258		58496487	-1	tier1	-	no_errors	ENST00000357552	ensembl	human	known	74_37	missense	40.68	35	24	SNP	1.000	T	T	58496487	C	T	58496487	3	4	96	1	0	0	0	0	1	0	0	0	15479	826	29	3	4714	3	SYCP2	20	58496487	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	27578441	58496487	4529033	100	27606											
ITSN1	6453	genome.wustl.edu	37	chr21	35257345	35257345	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgtctttttctgtccaagGactgcctgggtgcagaaaat	8	14	10	9	0	3	1	0	0	3	1	4	2	4	2	2	2	2	1	2	2	3	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr21:35257345G>T	ENST00000381318.3	+	37	4965	c.4677G>T	c.(4675-4677)agG>agT	p.R1559S	ITSN1_ENST00000381285.4_Splice_Site_p.R1559S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Splice_Site_p.R1498S|ITSN1_ENST00000399367.3_Splice_Site_p.R1554S|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1559	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTGTCCAAGGACTGCCTGGG	0.463																																																	0													87	87	87					21																	35257345		2203	4300	6503	SO:0001630	splice_region_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "EF-hand domain containing"	6183	protein-coding gene	gene with protein product	"SH3 domain protein-1A", "human intersectin-SH3 domain-containing protein SH3P17", "Src homology 3 domain-containing protein", "intersectin 1 short form variant, 11", "intersectin 1 short form variant 3", "intersectin short variant 12"	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4677-1G>T	21.37:g.35257345G>T			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.R1559S	ENST00000381318.3	37	c.4677	CCDS33545.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358297|4.358297	0.82243|0.82243	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442;ENST00000415023	.|T;T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.27;-0.27;-0.27	5.58|5.58	4.69|4.69	0.59074|0.59074	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82852|0.82852	0.5127|0.5127	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.996;0.996	.|D;D;D	.|0.85130	.|0.997;0.982;0.982	D|D	0.84405|0.84405	0.0562|0.0562	5|9	.|.	.|.	.|.	.|.	15.3852|15.3852	0.74691|0.74691	0.0701:0.0:0.9299:0.0|0.0701:0.0:0.9299:0.0	.|.	.|1498;1554;1559	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	Y|S	239|1559;1559;1488;1554;1498;95	.|ENSP00000370719:R1559S;ENSP00000370685:R1559S;ENSP00000382301:R1554S;ENSP00000387377:R1498S;ENSP00000409800:R95S	.|.	D|R	+|+	1|3	0|2	ITSN1|ITSN1	34179215|34179215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.679000|3.679000	0.54634|0.54634	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAC|AGG	ITSN1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000205726		0.463	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	-	0	55	0	G	NM_003024	Missense_Mutation	35257345	1	tier1	-	no_errors	ENST00000381285	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T	T	35257345	G	T	35257345	5	4	96	1	0	0	0	0	0	0	1	0	7953	1188	41	3	4825	3	ITSN1	21	35257345	Splice_Site	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09		35257345	12872550	101	27607											
BCR	613	genome.wustl.edu	37	chr22	23596130	23596130	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcaggggcagccgggAtgcgctggtctcgggagccc	6	4	19	12	3	1	0	0	0	1	0	2	2	1	2	2	6	3	3	2	6	1	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr22:23596130A>T	ENST00000305877.8	+	2	2175	c.1424A>T	c.(1423-1425)gAt>gTt	p.D475V	BCR_ENST00000359540.3_Missense_Mutation_p.D475V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	475					actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	GGCAGCCGGGATGCGCTGGTC	0.672			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													30	24	26					22																	23596130		2197	4291	6488	SO:0001583	missense	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.1424A>T	22.37:g.23596130A>T	ENSP00000303507:p.Asp475Val		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.D475V	ENST00000305877.8	37	c.1424	CCDS13806.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.877484|3.877484	0.72294|0.72294	.|.	.|.	ENSG00000186716|ENSG00000186716	ENST00000305877;ENST00000359540|ENST00000334149	T;T|.	0.30448|.	1.57;1.53|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Dbl homology (DH) domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47967|0.47967	0.1474|0.1474	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;D;B|.	0.55800|.	0.251;0.973;0.011|.	B;P;B|.	0.56916|.	0.247;0.809;0.018|.	T|T	0.36456|0.36456	-0.9747|-0.9747	10|6	0.62326|0.09590	D|T	0.03|0.72	.|.	13.8431|13.8431	0.63451|0.63451	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	64;475;475|.	B4E065;P11274-2;P11274|.	.;.;BCR_HUMAN|.	V|L	475|140	ENSP00000303507:D475V;ENSP00000352535:D475V|.	ENSP00000303507:D475V|ENSP00000335450:M140L	D|M	+|+	2|1	0|0	BCR|BCR	21926130|21926130	1.000000|1.000000	0.71417|0.71417	0.896000|0.896000	0.35187|0.35187	0.426000|0.426000	0.31534|0.31534	7.927000|7.927000	0.87577|0.87577	2.015000|2.015000	0.59207|0.59207	0.482000|0.482000	0.46254|0.46254	GAT|ATG	BCR	-	superfamily_DH-domain	ENSG00000186716		0.672	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	-	0	31	0	A	NM_004327		23596130	1	tier1	-	no_errors	ENST00000305877	ensembl	human	known	74_37	missense	45.95	20	17	SNP	0.997	T	T	23596130	A	T	23596130	3	4	96	1	0	0	0	0	1	0	0	0	1389	333	12	5	1430	5	BCR	22	23596130	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09		23596130	27708436	102	27608											
C22orf9	23313	genome.wustl.edu	37	chr22	45593679	45593679	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccagcattacctgttaaaAtccgatgcagcggcaacgtg	11	8	10	12	4	0	0	0	0	0	0	1	1	1	0	3	1	5	4	3	1	4	2			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr22:45593679A>C	ENST00000336156.5	-	9	1231	c.1166T>G	c.(1165-1167)aTt>aGt	p.I389S	KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000391627.2_Missense_Mutation_p.I355S|KIAA0930_ENST00000251993.7_Missense_Mutation_p.I394S|KIAA0930_ENST00000443310.3_Missense_Mutation_p.I371S	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	389										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ACCTGTTAAAATCCGATGCAG	0.572																																																	0													133	113	120					22																	45593679		2203	4300	6503	SO:0001583	missense	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 9"	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.1166T>G	22.37:g.45593679A>C	ENSP00000336720:p.Ile389Ser		B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	pfam_DUF2045	p.I394S	ENST00000336156.5	37	c.1181	CCDS33665.1	22	.	.	.	.	.	.	.	.	.	.	A	23.6	4.429739	0.83776	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	5.2	5.2	0.72013	.	0.108697	0.64402	D	0.000016	T	0.76842	0.4044	M	0.68952	2.095	0.80722	D	1	D;P;P;P	0.65815	0.995;0.87;0.956;0.926	D;B;P;P	0.70487	0.969;0.36;0.564;0.454	T	0.79878	-0.1617	9	0.87932	D	0	-25.9226	15.0706	0.72034	1.0:0.0:0.0:0.0	.	371;389;394;460	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	S	389;274;394;355;371	.	ENSP00000251993:I394S	I	-	2	0	KIAA0930	43972343	1.000000	0.71417	0.980000	0.43619	0.925000	0.55904	8.640000	0.91028	1.959000	0.56917	0.459000	0.35465	ATT	KIAA0930	-	NULL	ENSG00000100364		0.572	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	-	0	52	0	A	NM_001009880		45593679	-1	tier1	-	no_errors	ENST00000251993	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	C	C	45593679	A	C	45593679	3	2	96	1	0	0	0	0	1	0	0	0	2158	101	4	4	56	4	C22orf9	22	45593679	Missense_Mutation	SNP	A	TCGA-L7-A56G-01A-21D-A27G-09	21997549	45593679	5710887	103	27609											
CRELD2	79174	genome.wustl.edu	37	chr22	50316310	50316310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaccaacagagactgcGgcgagtgtgaagtgggctgg	9	6	17	9	2	0	3	0	2	0	1	0	5	0	3	2	3	2	1	2	3	2	0			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chr22:50316310G>A	ENST00000328268.4	+	6	717	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	CRELD2_ENST00000404488.3_Missense_Mutation_p.G264S|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.G215S|CRELD2_ENST00000403427.3_Missense_Mutation_p.G215S	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	215						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGACTGCGGCGAGTGTGA	0.682																																																	0													45	33	37					22																	50316310		2185	4283	6468	SO:0001583	missense	0			BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.643G>A	22.37:g.50316310G>A	ENSP00000332223:p.Gly215Ser		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G264S	ENST00000328268.4	37	c.790	CCDS14082.1	22	.	.	.	.	.	.	.	.	.	.	G	5.781	0.328403	0.10956	.	.	ENSG00000184164	ENST00000450207;ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	D;D;D;D;D	0.97209	-4.29;-2.18;-2.18;-2.18;-2.18	4.13	-8.25	0.01025	Growth factor, receptor (1);	2.454300	0.01520	N	0.018308	D	0.83501	0.5268	N	0.00670	-1.27	0.09310	N	1	B;B;B;B;B;B	0.27140	0.055;0.169;0.112;0.123;0.041;0.088	B;B;B;B;B;B	0.20767	0.007;0.031;0.01;0.009;0.004;0.006	D	0.84507	0.0620	10	0.09084	T	0.74	.	5.1588	0.15050	0.5225:0.273:0.1189:0.0856	.	215;264;215;215;215;215	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;.;CREL2_HUMAN;.	S	215;264;215;215;215	ENSP00000387769:G215S;ENSP00000383938:G264S;ENSP00000332223:G215S;ENSP00000386034:G215S;ENSP00000384111:G215S	ENSP00000332223:G215S	G	+	1	0	CRELD2	48702314	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-1.408000	0.02485	-2.769000	0.00366	-0.145000	0.13849	GGC	CRELD2	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom	ENSG00000184164		0.682	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CRELD2	HGNC	protein_coding	OTTHUMT00000317409.1	-	0	62	0	G	NM_024324		50316310	1	tier1	-	no_errors	ENST00000404488	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.000	A	A	50316310	G	A	50316310	3	1	96	1	0	0	0	0	1	0	0	0	3874	1116	39	1	816	1	CRELD2	22	50316310	Missense_Mutation	SNP	G	TCGA-L7-A56G-01A-21D-A27G-09	4722631	50316310	988256	104	27610											
DMD	1756	genome.wustl.edu	37	chrX	32486663	32486663	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctctagcttttgacaatgCtcaaccagctgggaggagag	10	10	11	10	0	2	2	1	1	1	1	3	4	3	3	2	2	4	3	2	2	3	3	rs143810752		TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chrX:32486663C>T	ENST00000357033.4	-	23	3320	c.3114G>A	c.(3112-3114)gaG>gaA	p.E1038E	DMD_ENST00000378677.2_Silent_p.E1034E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1038					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGACAATGCTCAACCAGCT	0.388																																																	0								C	,,,,	0,3833		0,0,1631,571	62	54	57		3090,3114,2745,3102,2745	-2.8	0	X	dbSNP_134	57	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3	,,,,	0,1,4058,2443	TT,TC,CC,C		0.0149,0.0,0.0095	,,,,	1030/3678,1038/3686,915/3563,1034/3682,915/3563	32486663	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3114G>A	X.37:g.32486663C>T			E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.E1038	ENST00000357033.4	37	c.3114	CCDS14233.1	X																																																																																			DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.388	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2		0	17	0	C	NM_004006		32486663	-1			no_errors	ENST00000357033	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.002	T	T	32486663	C	T	32486663	2	4	96	1	0	0	0	0	0	0	0	1	4594	796	28	3		3	DMD	23	32486663	Silent	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09		32486663	122783897	105	27611											
OGT	8473	genome.wustl.edu	37	chrX	70787359	70787359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctattttagattctgaagCgtgttcccaatagtgtactc	9	15	7	10	1	1	2	0	1	1	1	3	2	2	2	2	0	2	2	2	0	6	7			TCGA-L7-A56G-01A-21D-A27G-09	TCGA-L7-A56G-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d6cae831-09f5-451f-9044-55ad10409a3e	f603a4bf-c555-4f44-b114-3710db0263e4	g.chrX:70787359C>T	ENST00000373719.3	+	20	2816	c.2599C>T	c.(2599-2601)Cgt>Tgt	p.R867C	OGT_ENST00000373701.3_Missense_Mutation_p.R857C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	867					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GATTCTGAAGCGTGTTCCCAA	0.403																																																	0													69	65	66					X																	70787359		2203	4300	6503	SO:0001583	missense	0			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"Tetratricopeptide (TTC) repeat domain containing"	8127	protein-coding gene	gene with protein product	"UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"	300255	"O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2599C>T	X.37:g.70787359C>T	ENSP00000362824:p.Arg867Cys		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R867C	ENST00000373719.3	37	c.2599	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031569	0.75504	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.19938	2.11;2.11	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.91635	0.999;0.838;0.976	T	0.58154	-0.7686	10	0.66056	D	0.02	-18.9105	13.4891	0.61384	0.1663:0.8337:0.0:0.0	.	741;857;867	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	C	867;857	ENSP00000362824:R867C;ENSP00000362805:R857C	ENSP00000362805:R857C	R	+	1	0	OGT	70704084	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.686000	0.54685	2.362000	0.80069	0.544000	0.68410	CGT	OGT	-	NULL	ENSG00000147162		0.403	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	-	0	18	0	C	NM_003605, NM_181672		70787359	1	tier1	-	no_errors	ENST00000373719	ensembl	human	known	74_37	missense	68.29	13	28	SNP	1.000	T	T	70787359	C	T	70787359	3	4	96	1	0	0	0	0	1	0	0	0	10886	768	27	1	2677	1	OGT	23	70787359	Missense_Mutation	SNP	C	TCGA-L7-A56G-01A-21D-A27G-09	38300696	70787359	84483201	106	27612											
SSU72	29101	genome.wustl.edu	37	chr1	1500170	1500172	+	In_Frame_Del	DEL	AAG	AAG	-																															tacagttctttgtctttcctAagaagatcattgtacatctg																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:1500170_1500172delAAG	ENST00000291386.3	-	2	516_518	c.205_207delCTT	c.(205-207)cttdel	p.L69del	SSU72_ENST00000359060.4_In_Frame_Del_p.L69del	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	69					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGTCTTTCCTAAGAAGATCATTG	0.507																																																	0																																										SO:0001651	inframe_deletion	0			AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.205_207delCTT	1.37:g.1500173_1500175delAAG	ENSP00000291386:p.Leu69del		Q9BZS6|Q9H933	In_Frame_Del	DEL	pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF	p.L69in_frame_del	ENST00000291386.3	37	c.207_205	CCDS32.1	1																																																																																			SSU72	-	pfam_RNA_pol_II_suA	ENSG00000160075		0.507	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSU72	HGNC	protein_coding	OTTHUMT00000001366.1		0	63	0	AAG	NM_014188		1500172	-1	tier1		no_errors	ENST00000291386	ensembl	human	known	74_37	in_frame_del	20.45	35	9	DEL	1.000:1.000:1.000	-	-	1500172	AAG	-	1500170	7	5	97	1	0	1	0	1	0	0	0	0	15249	349	13	0	393	0	SSU72	1	1500170	In_Frame_Del	DEL	AAG	TCGA-L7-A6VZ-01A-12D-A33E-09		1500170	247750451	1	27613											
SKI	6497	genome.wustl.edu	37	chr1	2234478	2234478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacacctcttcccagtcccCcgcgccttccgaaaaggaca	9	7	7	18	3	1	1	0	1	1	0	4	3	4	2	6	1	0	0	6	1	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:2234478C>A	ENST00000378536.4	+	2	1103	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	344					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCCCAGTCCCCCGCGCCTTCC	0.602																																					Ovarian(177;144 1678 13697 20086 27838 40755)												0													69	77	74					1																	2234478		2203	4300	6503	SO:0001583	missense	0			X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"SKI transcriptional corepressors"	10896	protein-coding gene	gene with protein product		164780	"v-ski avian sarcoma viral oncogene homolog"			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1031C>A	1.37:g.2234478C>A	ENSP00000367797:p.Pro344His		Q5SYT7	Missense_Mutation	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.P344H	ENST00000378536.4	37	c.1031	CCDS39.1	1	.	.	.	.	.	.	.	.	.	.	c	14.16	2.451943	0.43531	.	.	ENSG00000157933	ENST00000378536	D	0.96200	-3.94	4.56	3.63	0.41609	.	0.185480	0.47093	D	0.000247	D	0.95875	0.8657	L	0.57536	1.79	0.42341	D	0.992336	D	0.61080	0.989	P	0.59012	0.85	D	0.94795	0.7965	10	0.41790	T	0.15	-16.7537	12.3034	0.54887	0.0:0.8293:0.1707:0.0	.	344	P12755	SKI_HUMAN	H	344	ENSP00000367797:P344H	ENSP00000367797:P344H	P	+	2	0	SKI	2224338	0.994000	0.37717	0.378000	0.26068	0.885000	0.51271	3.298000	0.51818	1.008000	0.39264	-0.313000	0.08912	CCC	SKI	-	NULL	ENSG00000157933		0.602	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKI	HGNC	protein_coding	OTTHUMT00000004070.1	-	0	46	0	C	NM_003036		2234478	1	tier1	-	no_errors	ENST00000378536	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.911	A	A	2234478	C	A	2234478	3	1	97	1	0	0	0	0	1	0	0	0	14402	623	22	3	1037	3	SKI	1	2234478	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	734308	2234478	247016143	2	27614											
PRAMEF6	440561	genome.wustl.edu	37	chr1	13001330	13001330	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacccacgggccatagctTcagaccaaaccatccagaag	14	4	8	15	1	1	2	1	0	0	2	2	2	2	2	5	1	3	2	5	1	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:13001330T>G	ENST00000376189.1	-	3	452	c.353A>C	c.(352-354)gAa>gCa	p.E118A	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Missense_Mutation_p.E118A	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	118					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATAGCTTCAGACCAAAC	0.493																																																	0													237	347	308					1																	13001330		1503	2697	4200	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"-"	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.353A>C	1.37:g.13001330T>G	ENSP00000365360:p.Glu118Ala		A0AUJ9	Missense_Mutation	SNP	NULL	p.E118A	ENST00000376189.1	37	c.353	CCDS30594.1	1	.	.	.	.	.	.	.	.	.	.	.	9.624	1.134510	0.21123	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.04234	3.67;3.67;3.67	1.52	0.547	0.17202	.	0.628911	0.13238	N	0.403064	T	0.11196	0.0273	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	D	0.76071	0.987	T	0.18178	-1.0345	10	0.72032	D	0.01	.	3.7634	0.08613	0.0:0.747:0.0:0.253	.	118	Q5VXH4	PRAM6_HUMAN	A	118	ENSP00000365360:E118A;ENSP00000401281:E118A;ENSP00000347211:E118A	ENSP00000347211:E118A	E	-	2	0	PRAMEF6	12923917	0.097000	0.21791	0.017000	0.16124	0.051000	0.14879	0.132000	0.15891	0.199000	0.20427	-0.579000	0.04138	GAA	PRAMEF6	-	NULL	ENSG00000232423		0.493	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAMEF6	HGNC	protein_coding		-	0	254	0	T	NM_001010889		13001330	-1	tier1	-	no_errors	ENST00000355096	ensembl	human	known	74_37	missense	20.09	183	46	SNP	0.023	G	G	13001330	T	G	13001330	3	3	97	1	0	0	0	0	1	0	0	0	12480	1783	62	4	1085	4	PRAMEF6	1	13001330	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	10766852	13001330	236249291	3	27615											
PRAMEF17	391004	genome.wustl.edu	37	chr1	13718575	13718575	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggagctctgctagagaaAgttgctgctactctcgagat	9	12	11	9	1	2	2	0	0	2	2	3	5	2	3	0	1	5	5	0	1	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:13718575A>C	ENST00000376098.4	+	3	1064	c.1038A>C	c.(1036-1038)aaA>aaC	p.K346N		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	346					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTAGAGAAAGTTGCTGCTA	0.542																																																	0													14	34	29					1																	13718575		682	2180	2862	SO:0001583	missense	0				CCDS41264.1	1p36.21	2013-01-17			ENSG00000204479	ENSG00000204479		"-"	29485	protein-coding gene	gene with protein product							Standard	NM_001099851		Approved	OTTHUMG00000007909	uc009vnz.1	Q5VTA0	OTTHUMG00000007909	ENST00000376098.4:c.1038A>C	1.37:g.13718575A>C	ENSP00000365266:p.Lys346Asn		B2RUU4	Missense_Mutation	SNP	NULL	p.K346N	ENST00000376098.4	37	c.1038	CCDS41264.1	1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.261519	0.23051	.	.	ENSG00000204479	ENST00000376098	T	0.54675	0.56	1.09	-2.18	0.07037	.	1.188080	0.05909	N	0.631421	T	0.57666	0.2069	M	0.64567	1.98	0.09310	N	1	D	0.53619	0.961	P	0.58721	0.844	T	0.47548	-0.9109	10	0.35671	T	0.21	.	1.5454	0.02564	0.4047:0.0:0.2616:0.3337	.	346	Q5VTA0	PRA17_HUMAN	N	346	ENSP00000365266:K346N	ENSP00000365266:K346N	K	+	3	2	PRAMEF17	13591162	0.001000	0.12720	0.001000	0.08648	0.011000	0.07611	-0.071000	0.11505	-0.776000	0.04578	-0.478000	0.04885	AAA	PRAMEF17	-	NULL	ENSG00000204479		0.542	PRAMEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF17	HGNC	protein_coding	OTTHUMT00000021780.2	-	0	79	0	A	NM_001099851		13718575	1	tier1	-	no_errors	ENST00000376098	ensembl	human	known	74_37	missense	68.63	32	70	SNP	0.002	C	C	13718575	A	C	13718575	3	2	97	1	0	0	0	0	1	0	0	0	12474	69	3	4	1048	4	PRAMEF17	1	13718575	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	717245	13718575	235532046	4	27616											
PADI6	353238	genome.wustl.edu	37	chr1	17720816	17720816	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctggtattggctacatGatccaggacactgaggacca	11	8	11	11	0	0	2	0	2	0	0	1	4	1	4	3	4	2	2	3	4	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:17720816G>T	ENST00000434762.2	+	0	1254							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TTGGCTACATGATCCAGGACA	0.562																																																	0													37	39	38					1																	17720816		1905	4129	6034			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"Peptidyl arginine deiminases"	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720816G>T			Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.562	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	-	0	53	0	G	NM_207421		17720816	1	tier1	-	no_errors	ENST00000358481	ensembl	human	known	74_37	rna	9.76	37	4	SNP	0.996	T	T	17720816	G	T	17720816	1	4	97	0	1	0	0	0	0	0	0	0	11420	1290	45	3		3	PADI6	1	17720816	RNA	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4002241	17720816	231529805	5	27617											
RCC2	55920	genome.wustl.edu	37	chr1	17755608	17755608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccattctcataccttgctGtttaggcacttcttttcgac	7	16	5	13	1	2	0	1	0	2	0	4	1	2	0	2	1	2	3	2	1	2	8			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:17755608G>T	ENST00000375436.4	-	3	560	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	RCC2_ENST00000375433.3_Missense_Mutation_p.Q125K	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	125					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		ATACCTTGCTGTTTAGGCACT	0.448																																																	0													154	124	134					1																	17755608		2203	4300	6503	SO:0001583	missense	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.373C>A	1.37:g.17755608G>T	ENSP00000364585:p.Gln125Lys		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.Q125K	ENST00000375436.4	37	c.373	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630113	0.28978	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	T;T	0.36340	1.26;1.26	5.72	5.72	0.89469	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.120933	0.64402	D	0.000015	T	0.30916	0.0780	L	0.44542	1.39	0.58432	D	0.99999	B	0.34015	0.435	B	0.30401	0.115	T	0.06643	-1.0815	10	0.10377	T	0.69	-13.231	18.8071	0.92041	0.0:0.0:1.0:0.0	.	125	Q9P258	RCC2_HUMAN	K	125	ENSP00000364585:Q125K;ENSP00000364582:Q125K	ENSP00000364582:Q125K	Q	-	1	0	RCC2	17628195	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	7.676000	0.84012	2.865000	0.98341	0.655000	0.94253	CAG	RCC2	-	superfamily_RCC1/BLIP-II	ENSG00000179051		0.448	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	-	0	75	0	G	NM_018715		17755608	-1	tier1	-	no_errors	ENST00000375433	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	17755608	G	T	17755608	3	4	97	1	0	0	0	0	1	0	0	0	13219	1386	48	3	1239	3	RCC2	1	17755608	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	34792	17755608	231495013	6	27618											
EYA3	2140	genome.wustl.edu	37	chr1	28300999	28300999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaatcaagctctaaaGcctggtgaagggatactagg	16	7	12	6	0	2	2	1	1	1	1	2	4	2	3	1	3	3	1	1	3	8	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:28300999G>T	ENST00000373871.3	-	18	1940	c.1700C>A	c.(1699-1701)gCt>gAt	p.A567D	EYA3_ENST00000373864.1_Missense_Mutation_p.A410D|EYA3_ENST00000540618.1_Missense_Mutation_p.A521D|EYA3_ENST00000545175.1_Missense_Mutation_p.A514D|EYA3_ENST00000436342.2_Missense_Mutation_p.A441D	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	567					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCTCTAAAGCCTGGTGAAG	0.478																																																	0													150	141	144					1																	28300999		2203	4300	6503	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"Protein tyrosine phosphatases / Asp-based PTPs"	3521	protein-coding gene	gene with protein product		601655	"eyes absent (Drosophila) homolog 3", "eyes absent homolog 3 (Drosophila)"			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1700C>A	1.37:g.28300999G>T	ENSP00000362978:p.Ala567Asp		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.A567D	ENST00000373871.3	37	c.1700	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.487678	0.96323	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.86	5.86	0.93980	EYA (1);	0.090327	0.85682	D	0.000000	D	0.95617	0.8575	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;0.978	D;P	0.85130	0.997;0.699	D	0.95693	0.8742	10	0.87932	D	0	-4.4168	20.1865	0.98220	0.0:0.0:1.0:0.0	.	521;567	B4DIR7;Q99504	.;EYA3_HUMAN	D	567;441;410;521;514	ENSP00000362978:A567D;ENSP00000405587:A441D;ENSP00000362971:A410D;ENSP00000442558:A521D;ENSP00000442280:A514D	ENSP00000362971:A410D	A	-	2	0	EYA3	28173586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.845000	0.99498	2.775000	0.95449	0.655000	0.94253	GCT	EYA3	-	tigrfam_EYA	ENSG00000158161		0.478	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	-	0	60	0	G	NM_001990		28300999	-1	tier1	-	no_errors	ENST00000373871	ensembl	human	known	74_37	missense	6.58	71	5	SNP	1.000	T	T	28300999	G	T	28300999	3	4	97	1	0	0	0	0	1	0	0	0	5346	971	34	3	25	3	EYA3	1	28300999	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10545391	28300999	220949622	7	27619											
SNRNP40	9410	genome.wustl.edu	37	chr1	31766179	31766179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgattggggcttgaagggagGaacatcttggaggtccctaa	10	10	15	6	0	1	2	0	2	1	0	2	5	2	5	1	6	1	1	1	6	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:31766179G>T	ENST00000263694.4	-	2	176	c.158C>A	c.(157-159)tCc>tAc	p.S53Y	SNRNP40_ENST00000446633.2_Missense_Mutation_p.S53Y	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	53					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						TTGAAGGGAGGAACATCTTGG	0.498																																																	0													78	65	70					1																	31766179		2203	4300	6503	SO:0001583	missense	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"WD repeat domain containing"	30857	protein-coding gene	gene with protein product		607797	"WD repeat domain 57 (U5 snRNP specific)"	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.158C>A	1.37:g.31766179G>T	ENSP00000263694:p.Ser53Tyr		B4DQJ1|O75938|O95320	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S53Y	ENST00000263694.4	37	c.158	CCDS340.1	1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912653	0.92178	.	.	ENSG00000060688	ENST00000263694;ENST00000446633	T;T	0.57436	0.4;0.44	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.67608	-0.5627	10	0.87932	D	0	.	19.0483	0.93030	0.0:0.0:1.0:0.0	.	53;53	B4DQJ1;Q96DI7	.;SNR40_HUMAN	Y	53	ENSP00000263694:S53Y;ENSP00000406841:S53Y	ENSP00000263694:S53Y	S	-	2	0	SNRNP40	31538766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.725000	0.98778	2.495000	0.84180	0.655000	0.94253	TCC	SNRNP40	-	NULL	ENSG00000060688		0.498	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1	-	0	46	0	G	NM_004814		31766179	-1	tier1	-	no_errors	ENST00000446633	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	31766179	G	T	31766179	3	4	97	1	0	0	0	0	1	0	0	0	14901	1174	41	3	951	3	SNRNP40	1	31766179	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3465180	31766179	217484442	8	27620											
TXLNA	200081	genome.wustl.edu	37	chr1	32647154	32647154	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaccatcgaaggccacagGagaagaaaaaagccaagggt	18	2	13	8	1	0	3	0	0	0	3	1	6	0	3	3	3	1	0	3	3	6	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:32647154G>T	ENST00000373609.1	+	2	762	c.481G>T	c.(481-483)Gag>Tag	p.E161*	TXLNA_ENST00000373610.3_Nonsense_Mutation_p.E161*			P40222	TXLNA_HUMAN	taxilin alpha	161					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAGGCCACAGGAGAAGAAAAA	0.547																																																	0													23	20	21					1																	32647154		2179	4268	6447	SO:0001587	stop_gained	0			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.481G>T	1.37:g.32647154G>T	ENSP00000362711:p.Glu161*		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Nonsense_Mutation	SNP	pfam_Taxilin_fam	p.E161*	ENST00000373609.1	37	c.481	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.752016	0.98471	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	.	.	.	4.62	4.62	0.57501	.	0.060923	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-24.8965	17.5103	0.87758	0.0:0.0:1.0:0.0	.	.	.	.	X	161	.	ENSP00000362711:E161X	E	+	1	0	TXLNA	32419741	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.060000	0.76692	2.305000	0.77605	0.558000	0.71614	GAG	TXLNA	-	NULL	ENSG00000084652		0.547	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	-	0	29	0	G	NM_175852		32647154	1	tier1	-	no_errors	ENST00000373609	ensembl	human	known	74_37	nonsense	13.64	19	3	SNP	1.000	T	T	32647154	G	T	32647154	4	4	97	1	0	0	0	0	0	1	0	0	16836	1175	41	3	487	3	TXLNA	1	32647154	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	880975	32647154	216603467	9	27621											
STK40	83931	genome.wustl.edu	37	chr1	36814305	36814305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcacacacacgtaccgctGagcacgtcgggactgatgta	10	7	12	12	4	0	2	0	2	0	0	1	3	0	3	1	2	2	5	1	2	2	2	rs573090820		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:36814305G>A	ENST00000373129.3	-	8	1141	c.735C>T	c.(733-735)ctC>ctT	p.L245L	STK40_ENST00000359297.2_Silent_p.L245L|STK40_ENST00000373132.3_Silent_p.L245L|STK40_ENST00000373130.3_Silent_p.L250L	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	245	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				glycogen metabolic process (GO:0005977)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|regulation of MAPK cascade (GO:0043408)|respiratory system process (GO:0003016)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				ACGTACCGCTGAGCACGTCGG	0.587																																																	0													99	75	83					1																	36814305		2203	4300	6503	SO:0001819	synonymous_variant	0			BC008344	CCDS407.1, CCDS60089.1	1p34.3	2008-02-05			ENSG00000196182	ENSG00000196182			21373	protein-coding gene	gene with protein product		609437					Standard	NM_032017		Approved	MGC4796, SgK495	uc001cak.1	Q8N2I9	OTTHUMG00000008238	ENST00000373129.3:c.735C>T	1.37:g.36814305G>A			D3DPS8|Q5VTK8|Q5VTK9|Q6ZMN1|Q8N2J8|Q8N3I6|Q96HN6|Q96I44|Q9BSA3|Q9H7H6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L250	ENST00000373129.3	37	c.750	CCDS407.1	1																																																																																			STK40	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196182		0.587	STK40-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STK40	HGNC	protein_coding	OTTHUMT00000022592.1	-	0	39	0	G	NM_032017		36814305	-1	tier1	-	no_errors	ENST00000373130	ensembl	human	known	74_37	silent	62.50	12	20	SNP	1.000	A	A	36814305	G	A	36814305	2	1	97	1	0	0	0	0	0	0	0	1	15354	1277	45	3		3	STK40	1	36814305	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4167151	36814305	212436316	10	27622											
MACF1	23499	genome.wustl.edu	37	chr1	39893243	39893243	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctaactcagaacctgttgGcactcagactgccaaaatac	13	9	7	12	0	2	2	2	0	0	2	2	2	2	2	2	1	5	3	2	1	5	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:39893243G>T	ENST00000372915.3	+	61	16535	c.16448G>T	c.(16447-16449)gGc>gTc	p.G5483V	MACF1_ENST00000539005.1_Missense_Mutation_p.G3395V|MACF1_ENST00000545844.1_Missense_Mutation_p.G3416V|MACF1_ENST00000317713.7_Missense_Mutation_p.G3416V|MACF1_ENST00000361689.2_Missense_Mutation_p.G3416V|MACF1_ENST00000564288.1_Missense_Mutation_p.G5478V|MACF1_ENST00000289893.4_Missense_Mutation_p.G3918V|MACF1_ENST00000567887.1_Missense_Mutation_p.G5515V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5483					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACCTGTTGGCACTCAGACT	0.423																																																	0													106	110	108					1																	39893243		2203	4300	6503	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"EF-hand domain containing"	13664	protein-coding gene	gene with protein product	"actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7"	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16448G>T	1.37:g.39893243G>T	ENSP00000362006:p.Gly5483Val		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G3416V	ENST00000372915.3	37	c.10247		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.1|26.1	4.703636|4.703636	0.88924|0.88924	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	T;T;T;T;T;T;T|.	0.56776|.	0.99;0.99;0.99;0.99;0.99;0.99;0.44|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.77778|0.77778	0.4181|0.4181	M|M	0.75777|0.75777	2.31|2.31	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.998|.	T|T	0.76372|0.76372	-0.2983|-0.2983	10|5	0.66056|.	D|.	0.02|.	.|.	19.8304|19.8304	0.96632|0.96632	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5483;3416;3360|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	V|C	3416;5483;3416;3416;3395;3918;232|2528	ENSP00000439537:G3416V;ENSP00000362006:G5483V;ENSP00000354573:G3416V;ENSP00000313438:G3416V;ENSP00000444364:G3395V;ENSP00000289893:G3918V;ENSP00000433104:G232V|.	ENSP00000289893:G3918V|.	G|W	+|+	2|3	0|0	MACF1|MACF1	39665830|39665830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	2.692000|2.692000	0.91855|0.91855	0.557000|0.557000	0.71058|0.71058	GGC|TGG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000127603		0.423	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0	59	0	G	NM_033044		39893243	1			no_errors	ENST00000317713	ensembl	human	known	74_37	missense	5.36	52	3	SNP	1.000	T	T	39893243	G	T	39893243	3	4	97	1	0	0	0	0	1	0	0	0	9180	1203	42	3	16624	3	MACF1	1	39893243	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3078938	39893243	209357378	11	27623											
ST3GAL3	6487	genome.wustl.edu	37	chr1	44363949	44363949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtcaccaaagagtaccGcctgacccctgccttggaca	10	7	9	15	1	2	2	2	1	0	1	2	3	2	3	6	1	2	1	6	1	2	2	rs138616798		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:44363949G>T	ENST00000361392.4	+	7	617	c.440G>T	c.(439-441)cGc>cTc	p.R147L	ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147L|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147L|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162L|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146L|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116L|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147L|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131L|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185L|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201L|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131L|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185L|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216L|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201L|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131L|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R216L|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147L|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146L|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131L|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116L|ST3GAL3_ENST00000361812.4_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	147					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				AAAGAGTACCGCCTGACCCCT	0.542																																																	0								G	LEU/ARG,LEU/ARG,LEU/ARG,,LEU/ARG,,LEU/ARG,LEU/ARG,,LEU/ARG	0,4406		0,0,2203	116	100	105		440,647,485,,440,,602,392,,554	3.7	1	1	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,missense,intron,missense,missense,intron,missense	ST3GAL3	NM_006279.2,NM_174963.2,NM_174964.1,NM_174965.1,NM_174966.1,NM_174967.1,NM_174968.2,NM_174969.1,NM_174970.1,NM_174971.2	102,102,102,,102,,102,102,,102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign,,benign,,benign,benign,,benign	147/376,216/445,162/391,,147/278,,201/430,131/360,,185/414	44363949	1,13005	2203	4300	6503	SO:0001583	missense	0			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"Sialyltransferases"	10866	protein-coding gene	gene with protein product	"ST3Gal III"	606494	"sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)", "mental retardation, non-syndromic, autosomal recessive, 12"	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.440G>T	1.37:g.44363949G>T	ENSP00000355341:p.Arg147Leu		A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R216L	ENST00000361392.4	37	c.647	CCDS492.1	1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110480	0.56398	0.0	1.16E-4	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.57	3.65	0.41850	.	0.116434	0.64402	D	0.000012	T	0.37128	0.0992	L	0.31926	0.97	0.80722	D	1	B;P;P;P;P;P;B;B;P;B;P;B;P;B	0.48911	0.163;0.551;0.891;0.917;0.551;0.702;0.262;0.274;0.546;0.262;0.546;0.195;0.546;0.302	B;B;P;P;B;B;B;B;B;B;B;B;B;B	0.59288	0.198;0.184;0.535;0.855;0.184;0.413;0.13;0.229;0.325;0.13;0.229;0.206;0.229;0.36	T	0.03898	-1.0994	10	0.25106	T	0.35	.	12.538	0.56152	0.0827:0.0:0.9173:0.0	.	147;100;131;146;131;146;116;147;185;131;201;147;216;162	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	L	147;131;216;201;185;116;147;131;162;147;216;146;146;147;201;185;131;131;147;116	ENSP00000355341:R147L;ENSP00000354748:R131L;ENSP00000262915:R216L;ENSP00000361450:R201L;ENSP00000316999:R185L;ENSP00000361449:R116L;ENSP00000330463:R147L;ENSP00000335633:R131L;ENSP00000317192:R162L;ENSP00000361444:R147L;ENSP00000354657:R216L;ENSP00000361442:R146L;ENSP00000361441:R146L;ENSP00000361440:R147L;ENSP00000361443:R201L;ENSP00000361447:R185L;ENSP00000434876:R131L;ENSP00000432682:R131L;ENSP00000432965:R147L;ENSP00000329755:R116L	ENSP00000262915:R216L	R	+	2	0	ST3GAL3	44136536	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.162000	0.50755	1.062000	0.40625	0.655000	0.94253	CGC	ST3GAL3	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000126091		0.542	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL3	HGNC	protein_coding	OTTHUMT00000019964.1		0	39	0	G	NM_174963		44363949	1			no_errors	ENST00000262915	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T	T	44363949	G	T	44363949	3	4	97	1	0	0	0	0	1	0	0	0	15263	1087	38	2	673	2	ST3GAL3	1	44363949	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4470706	44363949	204886672	12	27624											
CYB5RL	606495	genome.wustl.edu	37	chr1	54644957	54644957	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcattctcattgtctgtGatgctctgcaggataggcac	7	14	10	10	1	4	1	2	1	3	0	6	2	4	2	0	2	2	3	0	2	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:54644957G>T	ENST00000534324.1	-	5	608	c.609C>A	c.(607-609)atC>atA	p.I203I	CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000419823.2_Silent_p.I203I|CYB5RL_ENST00000401046.3_Silent_p.I55I|CYB5RL_ENST00000287899.8_Intron|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000542737.1_Silent_p.I203I			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	203							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CATTGTCTGTGATGCTCTGCA	0.547																																																	0													59	63	61					1																	54644957		2000	4170	6170	SO:0001819	synonymous_variant	0				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.609C>A	1.37:g.54644957G>T			B7ZBS4|Q8NF25	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.I203	ENST00000534324.1	37	c.609	CCDS44151.1	1																																																																																			CYB5RL	-	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	ENSG00000215883		0.547	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	HGNC	protein_coding	OTTHUMT00000388318.1	-	0	49	0	G	NM_001031672		54644957	-1	tier1	-	no_errors	ENST00000419823	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	54644957	G	T	54644957	2	4	97	1	0	0	0	0	0	0	0	1	4139	1280	45	3		3	CYB5RL	1	54644957	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10281008	54644957	194605664	13	27625											
OMA1	115209	genome.wustl.edu	37	chr1	58946792	58946792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgagtttgaatagtaatcGagggtctggattagacagtg	11	12	14	4	1	1	3	0	2	1	1	2	5	1	4	0	2	0	3	0	2	4	4	rs576005631		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:58946792G>A	ENST00000371226.3	-	9	1533	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	OMA1_ENST00000358603.2_Intron|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	474					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AATAGTAATCGAGGGTCTGGA	0.313													G|||	1	0.000199681	0	0	5008	,	,		14145	0		0	False		,,,				2504	0.001																0													113	108	109					1																	58946792		2203	4300	6503	SO:0001587	stop_gained	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1420C>T	1.37:g.58946792G>A	ENSP00000360270:p.Arg474*		D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Nonsense_Mutation	SNP	pfam_Peptidase_M48	p.R474*	ENST00000371226.3	37	c.1420	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.234871	0.79800	.	.	ENSG00000162600	ENST00000371226	.	.	.	4.31	4.31	0.51392	.	0.087205	0.45606	D	0.000348	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5207	12.456	0.55704	0.0:0.0:1.0:0.0	.	.	.	.	X	474	.	ENSP00000360270:R474X	R	-	1	2	OMA1	58719380	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	5.120000	0.64685	2.406000	0.81754	0.460000	0.39030	CGA	OMA1	-	NULL	ENSG00000162600		0.313	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0	89	0	G	NM_145243		58946792	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	nonsense	43.24	42	32	SNP	1.000	A	A	58946792	G	A	58946792	4	1	97	1	0	0	0	0	0	1	0	0	10903	1066	37	1	158	1	OMA1	1	58946792	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4301835	58946792	190303829	14	27626											
BARHL2	343472	genome.wustl.edu	37	chr1	91180292	91180292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggctactcgtaatctccCggtctccttcctcctttgtc	4	14	6	17	3	2	0	0	0	2	0	8	0	4	0	4	2	1	2	4	2	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:91180292C>A	ENST00000370445.4	-	2	688	c.647G>T	c.(646-648)cGg>cTg	p.R216L		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	216					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R216P(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CGTAATCTCCCGGTCTCCTTC	0.542																																					GBM(199;3561 4100 22440)												1	Substitution - Missense(1)	lung(1)											114	117	116					1																	91180292		2203	4300	6503	SO:0001583	missense	0			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"Homeoboxes / ANTP class : NKL subclass"	954	protein-coding gene	gene with protein product		605212	"BarH (Drosophila)-like 2"				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.647G>T	1.37:g.91180292C>A	ENSP00000359474:p.Arg216Leu		A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R216L	ENST00000370445.4	37	c.647	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347205	0.82022	.	.	ENSG00000143032	ENST00000370445	D	0.91237	-2.81	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	D	0.90447	0.4436	10	0.39692	T	0.17	.	17.3821	0.87407	0.0:1.0:0.0:0.0	.	216	Q9NY43	BARH2_HUMAN	L	216	ENSP00000359474:R216L	ENSP00000359474:R216L	R	-	2	0	BARHL2	90952880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.429000	0.82318	0.561000	0.74099	CGG	BARHL2	-	NULL	ENSG00000143032		0.542	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2		0	65	0	C			91180292	-1			no_errors	ENST00000370445	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	A	A	91180292	C	A	91180292	3	1	97	1	0	0	0	0	1	0	0	0	1315	652	23	2	524	2	BARHL2	1	91180292	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	32233500	91180292	158070329	15	27627											
ZNF644	84146	genome.wustl.edu	37	chr1	91405548	91405548	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcgatctcgaaatgtccGtccacattctctacaagcat	11	12	6	12	3	2	0	0	0	2	0	6	2	4	0	2	0	3	1	2	0	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:91405548G>T	ENST00000370440.1	-	3	1580	c.1363C>A	c.(1363-1365)Cgg>Agg	p.R455R	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.R455R|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R455W(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CGAAATGTCCGTCCACATTCT	0.403																																																	1	Substitution - Missense(1)	lung(1)											110	112	112					1																	91405548		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1363C>A	1.37:g.91405548G>T			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R455	ENST00000370440.1	37	c.1363	CCDS731.1	1																																																																																			ZNF644	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000122482		0.403	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0	45	0	G	NM_032186		91405548	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T	T	91405548	G	T	91405548	2	4	97	1	0	0	0	0	0	0	0	1	18108	1144	40	2		2	ZNF644	1	91405548	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	225256	91405548	157845073	16	27628											
ATP5F1	515	genome.wustl.edu	37	chr1	112003600	112003600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggcaaagaaggctcaagCacagccagttatgtaaatgt	14	8	11	8	0	1	1	1	0	0	1	1	1	1	1	1	2	2	6	1	2	6	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:112003600C>T	ENST00000369722.3	+	7	1361	c.755C>T	c.(754-756)gCa>gTa	p.A252V	ATP5F1_ENST00000483994.1_Missense_Mutation_p.A191V|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	252					ATP catabolic process (GO:0006200)|ATP synthesis coupled proton transport (GO:0015986)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAGGCTCAAGCACAGCCAGTT	0.408																																																	0													52	50	50					1																	112003600		2203	4300	6503	SO:0001583	missense	0			X60221	CCDS836.1	1p13.2	2012-10-12	2010-06-11		ENSG00000116459	ENSG00000116459		"Mitochondrial respiratory chain complex / Complex V", "ATPases / F-type"	840	protein-coding gene	gene with protein product		603270	"ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1", "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1"			1831354	Standard	XM_005270929		Approved		uc001ebc.3	P24539	OTTHUMG00000011745	ENST00000369722.3:c.755C>T	1.37:g.112003600C>T	ENSP00000358737:p.Ala252Val		Q9BQ68|Q9BRU8	Missense_Mutation	SNP	pfam_ATPase_B_chain/sub_B/MI25	p.A252V	ENST00000369722.3	37	c.755	CCDS836.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624271	0.46840	.	.	ENSG00000116459	ENST00000369722;ENST00000483994	T;T	0.34472	1.42;1.36	4.94	3.05	0.35203	.	0.325022	0.35151	N	0.003413	T	0.17323	0.0416	L	0.50333	1.59	0.49582	D	0.999807	B	0.14012	0.009	B	0.12837	0.008	T	0.08106	-1.0738	10	0.72032	D	0.01	.	10.0723	0.42341	0.0:0.7828:0.1388:0.0784	.	252	P24539	AT5F1_HUMAN	V	252;191	ENSP00000358737:A252V;ENSP00000420366:A191V	ENSP00000358737:A252V	A	+	2	0	ATP5F1	111805123	1.000000	0.71417	0.909000	0.35828	0.276000	0.26787	4.794000	0.62482	0.744000	0.32741	-0.136000	0.14681	GCA	ATP5F1	-	NULL	ENSG00000116459		0.408	ATP5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5F1	HGNC	protein_coding	OTTHUMT00000032455.1	-	0	35	0	C	NM_001688		112003600	1	tier1	-	no_errors	ENST00000369722	ensembl	human	known	74_37	missense	36.11	23	13	SNP	1.000	T	T	112003600	C	T	112003600	3	4	97	1	0	0	0	0	1	0	0	0	1153	710	25	3	781	3	ATP5F1	1	112003600	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	20598052	112003600	137247021	17	27629											
GJA8	2703	genome.wustl.edu	37	chr1	147381036	147381036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcccggggctaccaagaGacactgccttcctacgctca	8	9	9	15	2	1	1	1	0	0	1	3	2	3	1	4	2	3	2	4	2	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:147381036G>T	ENST00000369235.1	+	1	954	c.954G>T	c.(952-954)gaG>gaT	p.E318D	GJA8_ENST00000240986.4_Missense_Mutation_p.E318D			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	318					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCTACCAAGAGACACTGCCTT	0.632																																					Melanoma(76;1255 1795 8195 52096)												0													27	28	28					1																	147381036		2203	4300	6503	SO:0001583	missense	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"Ion channels / Gap junction proteins (connexins)"	4281	protein-coding gene	gene with protein product	"connexin 50"	600897	"gap junction protein, alpha 8, 50kD (connexin 50)", "gap junction protein, alpha 8, 50kDa (connexin 50)"	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.954G>T	1.37:g.147381036G>T	ENSP00000358238:p.Glu318Asp		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.E318D	ENST00000369235.1	37	c.954	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	g	16.76	3.213062	0.58452	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.84298	-1.83;-1.83	4.95	2.93	0.34026	.	1.358490	0.05386	N	0.538175	D	0.83280	0.5220	L	0.32530	0.975	0.44221	D	0.997056	D	0.76494	0.999	D	0.80764	0.994	T	0.77046	-0.2733	10	0.35671	T	0.21	.	9.0466	0.36349	0.2533:0.0:0.7467:0.0	.	318	P48165	CXA8_HUMAN	D	318	ENSP00000240986:E318D;ENSP00000358238:E318D	ENSP00000240986:E318D	E	+	3	2	GJA8	145847660	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	2.582000	0.46085	1.298000	0.44778	0.561000	0.74099	GAG	GJA8	-	pfam_Connexin50,prints_Connexin50	ENSG00000121634		0.632	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1		0	38	0	G	NM_005267		147381036	1			no_errors	ENST00000240986	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	147381036	G	T	147381036	3	4	97	1	0	0	0	0	1	0	0	0	6431	933	33	3	956	3	GJA8	1	147381036	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	35377436	147381036	101869585	18	27630											
OTUD7B	56957	genome.wustl.edu	37	chr1	149921626	149921626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggggagcggtgacactgGctggctgggacctccaaagg	9	5	18	9	1	0	2	0	1	0	1	1	4	1	4	2	7	1	2	2	7	1	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:149921626G>T	ENST00000369135.4	-	9	1323	c.1029C>A	c.(1027-1029)agC>agA	p.S343R		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	343	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGTGACACTGGCTGGCTGGGA	0.527																																																	0													59	62	61					1																	149921626		1989	4168	6157	SO:0001583	missense	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"OTU domain containing"	16683	protein-coding gene	gene with protein product		611748	"zinc finger, A20 domain containing 1", "OTU domain containing 7B"	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1029C>A	1.37:g.149921626G>T	ENSP00000358131:p.Ser343Arg		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S343R	ENST00000369135.4	37	c.1029	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391217	0.62066	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.32023	1.47;1.47	5.05	5.05	0.67936	Ovarian tumour, otubain (2);	0.209251	0.49305	D	0.000145	T	0.35008	0.0917	L	0.56199	1.76	0.47737	D	0.9995	P	0.37688	0.605	P	0.51453	0.67	T	0.02766	-1.1113	9	.	.	.	-22.9503	17.5711	0.87934	0.0:0.0:1.0:0.0	.	343	Q6GQQ9	OTU7B_HUMAN	R	343	ENSP00000358131:S343R;ENSP00000408231:S343R	.	S	-	3	2	OTUD7B	148188250	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.955000	0.70306	2.633000	0.89246	0.591000	0.81541	AGC	OTUD7B	-	pfam_OTU,pfscan_OTU	ENSG00000163113		0.527	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	-	0	76	0	G	NM_020205		149921626	-1	tier1	-	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	149921626	G	T	149921626	3	4	97	1	0	0	0	0	1	0	0	0	11358	1194	42	3	1518	3	OTUD7B	1	149921626	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2540590	149921626	99328995	19	27631											
CHRNB2	1141	genome.wustl.edu	37	chr1	154542805	154542805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagttcggctcccttcCaaacacatctggctcccaga	12	8	7	14	1	1	2	0	0	1	2	5	2	4	2	3	2	1	3	3	2	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:154542805C>A	ENST00000368476.3	+	4	591	c.327C>A	c.(325-327)tcC>tcA	p.S109S		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	109					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGCTCCCTTCCAAACACATCT	0.537																																																	0													66	55	59					1																	154542805		2203	4300	6503	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.327C>A	1.37:g.154542805C>A			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S109	ENST00000368476.3	37	c.327	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000160716		0.537	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0	37	0	C	NM_000748		154542805	1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	A	A	154542805	C	A	154542805	2	1	97	1	0	0	0	0	0	0	0	1	3398	581	21	3		3	CHRNB2	1	154542805	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	4621179	154542805	94707816	20	27632											
KCNN3	3782	genome.wustl.edu	37	chr1	154842333	154842333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggctgctgctgctgttgCtgctgctgctgctgctgctg	0	14	16	11	0	0	0	0	0	0	0	0	0	0	0	0	2	10	12	0	2	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:154842333C>T	ENST00000271915.4	-	1	423	c.108G>A	c.(106-108)caG>caA	p.Q36Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	36	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgttgctgctgctgct	0.672																																																	0													8	8	8					1																	154842333		1967	3874	5841	SO:0001819	synonymous_variant	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.108G>A	1.37:g.154842333C>T			B1ANX0|O43517|Q86VF9|Q8WXG7	Silent	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.Q36	ENST00000271915.4	37	c.108	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.672	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0	59	0	C	NM_002249		154842333	-1			no_errors	ENST00000271915	ensembl	human	novel	74_37	silent	7.14	65	5	SNP	0.823	T	T	154842333	C	T	154842333	2	4	97	1	0	0	0	0	0	0	0	1	8107	796	28	3		3	KCNN3	1	154842333	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	299528	154842333	94408288	21	27633											
DUSP27	92235	genome.wustl.edu	37	chr1	167095830	167095830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagaggctgctggagattGagaaggaggcttcccggagg	10	6	18	7	2	0	3	0	1	0	3	1	8	1	5	1	6	1	3	1	6	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:167095830G>T	ENST00000361200.2	+	6	1628	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.E488*|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.E488*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	488					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCTGGAGATTGAGAAGGAGGC	0.647																																																	0													36	35	36					1																	167095830		2203	4300	6503	SO:0001587	stop_gained	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1462G>T	1.37:g.167095830G>T	ENSP00000354483:p.Glu488*		A0AUM4|Q9C074	Nonsense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.E488*	ENST00000361200.2	37	c.1462	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.183167	0.98693	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	.	.	.	5.36	5.36	0.76844	.	0.160857	0.41712	D	0.000832	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.6078	19.1027	0.93281	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000271385:E488X	E	+	1	0	DUSP27	165362454	1.000000	0.71417	0.226000	0.23910	0.682000	0.39822	9.328000	0.96403	2.488000	0.83962	0.643000	0.83706	GAG	DUSP27	-	NULL	ENSG00000198842		0.647	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	-	0	37	0	G	NM_001080426		167095830	1	tier1	-	no_errors	ENST00000271385	ensembl	human	known	74_37	nonsense	8.33	44	4	SNP	1.000	T	T	167095830	G	T	167095830	4	4	97	1	0	0	0	0	0	1	0	0	4838	1291	45	3	1480	3	DUSP27	1	167095830	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	12253497	167095830	82154791	22	27634											
CACNA1E	777	genome.wustl.edu	37	chr1	181689919	181689919	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctctaattttgtttttcagGtttaactttaatgatgggac	9	20	7	5	0	2	1	1	1	1	0	3	2	2	2	0	2	1	2	0	2	3	9			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:181689919G>T	ENST00000367573.2	+	15	1884	c.1884G>T	c.(1882-1884)agG>agT	p.R628S	CACNA1E_ENST00000357570.5_Splice_Site_p.R579S|CACNA1E_ENST00000358338.5_Splice_Site_p.R579S|CACNA1E_ENST00000367570.1_Splice_Site_p.R628S|CACNA1E_ENST00000367567.4_Splice_Site_p.R235S|CACNA1E_ENST00000360108.3_Splice_Site_p.R628S|CACNA1E_ENST00000526775.1_Splice_Site_p.R628S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	628					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTTTTTCAGGTTTAACTTTA	0.393																																																	0													75	74	74					1																	181689919		1845	4103	5948	SO:0001630	splice_region_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1884-1G>T	1.37:g.181689919G>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R628S	ENST00000367573.2	37	c.1884	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927603	0.52759	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.77	4.85	0.62838	.	0.040956	0.85682	D	0.000000	D	0.94009	0.8081	N	0.25647	0.755	0.53688	D	0.999974	B;B	0.33238	0.275;0.403	B;B	0.28305	0.088;0.088	D	0.91546	0.5253	9	.	.	.	.	9.5079	0.39058	0.2099:0.0:0.7901:0.0	.	628;628	Q15878-2;Q15878-3	.;.	S	628;628;579;579;235;628;628	ENSP00000356542:R628S;ENSP00000434814:R628S;ENSP00000350183:R579S;ENSP00000351101:R579S;ENSP00000356539:R235S;ENSP00000353222:R628S;ENSP00000356545:R628S	.	R	+	3	2	CACNA1E	179956542	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	1.454000	0.35178	2.720000	0.93068	0.557000	0.71058	AGG	CACNA1E	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000198216		0.393	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	53	0	G	NM_000721	Missense_Mutation	181689919	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	181689919	G	T	181689919	5	4	97	1	0	0	0	0	0	0	1	0	2549	1275	44	3	1942	3	CACNA1E	1	181689919	Splice_Site	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	14594089	181689919	67560702	23	27635											
SMG7	9887	genome.wustl.edu	37	chr1	183510187	183510187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagcaacgacgaatacGacagcaacgcttgatctcta	14	6	9	12	4	1	1	0	1	1	0	2	4	1	1	1	1	5	3	1	1	5	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:183510187G>T	ENST00000347615.2	+	13	1483	c.1364G>T	c.(1363-1365)cGa>cTa	p.R455L	SMG7_ENST00000456731.2_Missense_Mutation_p.R413L|SMG7_ENST00000507469.1_Missense_Mutation_p.R455L|SMG7_ENST00000515829.2_Missense_Mutation_p.R455L|SMG7_ENST00000508461.1_Missense_Mutation_p.R413L|SMG7_ENST00000367537.3_Missense_Mutation_p.R484L	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	455					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.R455Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CGACGAATACGACAGCAACGC	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											179	167	171					1																	183510187		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1364G>T	1.37:g.183510187G>T	ENSP00000340766:p.Arg455Leu		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.R455L	ENST00000347615.2	37	c.1364	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.231863	0.95207	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.24115	0.695	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.997;0.997;0.998;0.997;0.997	T	0.44952	-0.9294	10	0.66056	D	0.02	-12.548	19.8215	0.96599	0.0:0.0:1.0:0.0	.	413;484;413;455;455;455	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	L	413;484;413;413;455;455;455	ENSP00000407629:R413L;ENSP00000356507:R484L;ENSP00000426915:R413L;ENSP00000388390:R413L;ENSP00000340766:R455L;ENSP00000425133:R455L;ENSP00000421358:R455L	ENSP00000340766:R455L	R	+	2	0	SMG7	181776810	1.000000	0.71417	0.976000	0.42696	0.891000	0.51852	7.003000	0.76310	2.679000	0.91253	0.650000	0.86243	CGA	SMG7	-	NULL	ENSG00000116698		0.413	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1		0	72	0	G	NM_014837		183510187	1			no_errors	ENST00000507469	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	183510187	G	T	183510187	3	4	97	1	0	0	0	0	1	0	0	0	14843	1058	37	2	1414	2	SMG7	1	183510187	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1820268	183510187	65740434	24	27636											
FAM129A	116496	genome.wustl.edu	37	chr1	184853896	184853896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggaattccttgggcaGgaccacaaagggctgagtgt	10	8	14	9	0	0	1	0	1	0	0	1	3	1	3	2	4	0	2	2	4	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:184853896G>T	ENST00000367511.3	-	5	665	c.472C>A	c.(472-474)Ctg>Atg	p.L158M		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	158					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCCTTGGGCAGGACCACAAAG	0.458																																																	0													95	90	92					1																	184853896		2203	4300	6503	SO:0001583	missense	0			AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"cell growth inhibiting protein 39"		"chromosome 1 open reading frame 24"	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.472C>A	1.37:g.184853896G>T	ENSP00000356481:p.Leu158Met		Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	NULL	p.L158M	ENST00000367511.3	37	c.472	CCDS1364.1	1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209995	0.39003	.	.	ENSG00000135842	ENST00000367511	T	0.18338	2.22	5.63	-0.269	0.12930	.	0.401796	0.28036	N	0.016856	T	0.21022	0.0506	L	0.42245	1.32	0.18873	N	0.999989	D	0.76494	0.999	D	0.66979	0.948	T	0.11397	-1.0589	10	0.29301	T	0.29	-1.8358	1.9081	0.03281	0.259:0.1309:0.4603:0.1498	.	158	Q9BZQ8	NIBAN_HUMAN	M	158	ENSP00000356481:L158M	ENSP00000356481:L158M	L	-	1	2	FAM129A	183120519	0.254000	0.23992	0.761000	0.31378	0.783000	0.44284	0.730000	0.26043	0.037000	0.15575	-0.284000	0.09977	CTG	FAM129A	-	NULL	ENSG00000135842		0.458	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129A	HGNC	protein_coding	OTTHUMT00000085786.1	-	0	55	0	G			184853896	-1	tier1	-	no_errors	ENST00000367511	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.344	T	T	184853896	G	T	184853896	3	4	97	1	0	0	0	0	1	0	0	0	5455	991	35	3	2354	3	FAM129A	1	184853896	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1343709	184853896	64396725	25	27637											
HMCN1	83872	genome.wustl.edu	37	chr1	186030997	186030997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcaggatgctaCggctgatgcagaccacaatg	11	6	14	10	1	0	2	0	1	0	1	0	4	0	4	1	4	4	5	1	4	2	1	rs376132541	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:186030997C>T	ENST00000271588.4	+	47	7556	c.7327C>T	c.(7327-7329)Cgg>Tgg	p.R2443W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2443W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2443	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATGCTACGGCTGATGCA	0.398													C|||	2	0.000399361	0	0	5008	,	,		16462	0		0	False		,,,				2504	0.002																0								C	TRP/ARG	0,4406		0,0,2203	87	94	92		7327	4.4	0.3	1		92	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2443/5636	186030997	1,13005	2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7327C>T	1.37:g.186030997C>T	ENSP00000271588:p.Arg2443Trp		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.R2443W	ENST00000271588.4	37	c.7327	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274075	0.80580	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.36520	1.25;1.25	5.39	4.42	0.53409	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53906	-0.8372	10	0.37606	T	0.19	.	14.5328	0.67939	0.1471:0.8529:0.0:0.0	.	2443	Q96RW7	HMCN1_HUMAN	W	2443	ENSP00000271588:R2443W;ENSP00000356462:R2443W	ENSP00000271588:R2443W	R	+	1	2	HMCN1	184297620	1.000000	0.71417	0.330000	0.25442	0.846000	0.48090	4.567000	0.60850	2.528000	0.85240	0.591000	0.81541	CGG	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	55	0	C	NM_031935		186030997	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	54.93	32	39	SNP	0.999	T	T	186030997	C	T	186030997	3	4	97	1	0	0	0	0	1	0	0	0	7247	527	19	1	7513	1	HMCN1	1	186030997	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	1177101	186030997	63219624	26	27638											
CFH	3075	genome.wustl.edu	37	chr1	196642152	196642152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatacagaaattctgacaGgttcctggtctgaccaaaca	15	9	8	9	0	2	3	0	2	2	1	3	4	3	3	2	2	2	1	2	2	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:196642152G>T	ENST00000359637.2	+	2	165	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	CFH_ENST00000439155.2_Missense_Mutation_p.G35C|CFH_ENST00000496761.1_3'UTR|CFH_ENST00000367429.4_Missense_Mutation_p.G35C			P08603	CFAH_HUMAN	complement factor H	100	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATTCTGACAGGTTCCTGGTC	0.363																																																	0													59	64	62					1																	196642152		2203	4300	6503	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"Complement system"	4883	protein-coding gene	gene with protein product	"beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1"	134370	"H factor 1 (complement)"	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.103G>T	1.37:g.196642152G>T	ENSP00000352658:p.Gly35Cys		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G35C	ENST00000359637.2	37	c.103		1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.864974	0.51482	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.70399	-0.48;-0.48;-0.48	4.39	4.39	0.52855	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.83280	0.5220	M	0.77616	2.38	0.26752	N	0.970185	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.993	T	0.74630	-0.3601	9	0.72032	D	0.01	.	12.3224	0.54991	0.0:0.0:1.0:0.0	.	35;35;35;35	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	C	35	ENSP00000356399:G35C;ENSP00000402656:G35C;ENSP00000352658:G35C	ENSP00000352658:G35C	G	+	1	0	CFH	194908775	0.915000	0.31059	0.930000	0.37139	0.468000	0.32798	3.512000	0.53407	2.283000	0.76528	0.561000	0.74099	GGT	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000000971		0.363	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000087502.1	-	0	50	0	G	NM_000186		196642152	1	tier1	-	no_errors	ENST00000367429	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.490	T	T	196642152	G	T	196642152	3	4	97	1	0	0	0	0	1	0	0	0	3290	1000	35	3	109	3	CFH	1	196642152	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10611155	196642152	52608469	27	27639											
ASPM	259266	genome.wustl.edu	37	chr1	197074012	197074012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcttgttttcttaaatGccattctctaaaagctcttt	9	20	4	8	0	3	0	0	0	3	0	4	0	3	0	1	0	3	3	1	0	5	9			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:197074012G>T	ENST00000367409.4	-	18	4625	c.4369C>A	c.(4369-4371)Cat>Aat	p.H1457N	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1457					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTCTTAAATGCCATTCTCTA	0.284																																																	0													80	76	77					1																	197074012		2203	4296	6499	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)"	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4369C>A	1.37:g.197074012G>T	ENSP00000356379:p.His1457Asn		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.H1457N	ENST00000367409.4	37	c.4369	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	8.888	0.953323	0.18431	.	.	ENSG00000066279	ENST00000367409	T	0.57273	0.41	5.27	0.789	0.18607	.	0.881147	0.10013	N	0.726923	T	0.52058	0.1711	M	0.77616	2.38	0.80722	D	1	P	0.46656	0.882	B	0.42188	0.379	T	0.52525	-0.8564	10	0.29301	T	0.29	.	8.6916	0.34271	0.0712:0.0:0.4452:0.4836	.	1457	Q8IZT6	ASPM_HUMAN	N	1457	ENSP00000356379:H1457N	ENSP00000356379:H1457N	H	-	1	0	ASPM	195340635	0.813000	0.29090	0.349000	0.25694	0.811000	0.45836	1.049000	0.30392	0.267000	0.21916	0.484000	0.47621	CAT	ASPM	-	superfamily_ARM-type_fold,superfamily_P-loop_NTPase	ENSG00000066279		0.284	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1		0	26	0	G	NM_018136		197074012	-1			no_errors	ENST00000367409	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.067	T	T	197074012	G	T	197074012	3	4	97	1	0	0	0	0	1	0	0	0	1057	1319	46	3	6108	3	ASPM	1	197074012	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	431860	197074012	52176609	28	27640											
LAX1	54900	genome.wustl.edu	37	chr1	203740495	203740495	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctctcattgccttgcagGacaagttccttacctccgag	7	13	7	14	1	2	0	1	0	2	0	6	2	4	1	4	1	3	2	4	1	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:203740495G>T	ENST00000442561.2	+	3	590	c.200G>T	c.(199-201)cGa>cTa	p.R67L	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Splice_Site_p.R51L	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	67					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCTTGCAGGACAAGTTCCT	0.512																																																	0													222	214	217					1																	203740495		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"LAT-like membrane associated protein", "linker for activation of x cells"					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.200-1G>T	1.37:g.203740495G>T			B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	NULL	p.R67L	ENST00000442561.2	37	c.200	CCDS1441.2	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687531	0.68157	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.7	1.11	0.20524	.	1.007230	0.07982	N	0.985741	T	0.43545	0.1252	L	0.55481	1.735	0.80722	D	1	P;P	0.36535	0.557;0.557	B;B	0.36766	0.232;0.232	T	0.40136	-0.9579	8	.	.	.	.	2.8588	0.05580	0.3497:0.0:0.4525:0.1978	.	51;67	B7Z744;Q8IWV1	.;LAX1_HUMAN	L	67;51	.	.	R	+	2	0	LAX1	202007118	0.762000	0.28451	0.192000	0.23308	0.325000	0.28411	0.869000	0.27996	0.317000	0.23160	0.655000	0.94253	CGA	LAX1	-	NULL	ENSG00000122188		0.512	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAX1	HGNC	protein_coding	OTTHUMT00000087468.3		0	86	0	G	NM_017773	Missense_Mutation	203740495	1			no_errors	ENST00000442561	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.171	T	T	203740495	G	T	203740495	5	4	97	1	0	0	0	0	0	0	1	0	8676	1188	41	3	255	3	LAX1	1	203740495	Splice_Site	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6666483	203740495	45510126	29	27641											
REN	5972	genome.wustl.edu	37	chr1	204135349	204135349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaggtggtggtgtctgtcgGgagaccaaaggtacaggagc	11	7	17	6	1	1	1	0	0	1	1	2	3	1	2	1	6	2	1	1	6	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:204135349G>T	ENST00000272190.8	-	1	101	c.73C>A	c.(73-75)Ccg>Acg	p.P25T	REN_ENST00000367195.2_Missense_Mutation_p.P25T	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	25					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGTCTGTCGGGAGACCAAAG	0.582																																																	0													140	131	134					1																	204135349		2203	4300	6503	SO:0001583	missense	0			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.73C>A	1.37:g.204135349G>T	ENSP00000272190:p.Pro25Thr		Q6FI38|Q6T5C2	Missense_Mutation	SNP	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.P25T	ENST00000272190.8	37	c.73	CCDS30981.1	1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743937	0.15642	.	.	ENSG00000143839	ENST00000367195;ENST00000272190	T;T	0.60920	0.15;0.15	4.1	3.19	0.36642	Peptidase aspartic (1);	0.788569	0.11580	N	0.549810	T	0.32224	0.0822	N	0.08118	0	0.31335	N	0.684377	B	0.28512	0.214	B	0.17979	0.02	T	0.31251	-0.9950	10	0.25751	T	0.34	.	7.785	0.29087	0.1155:0.0:0.8845:0.0	.	25	P00797	RENI_HUMAN	T	25	ENSP00000356163:P25T;ENSP00000272190:P25T	ENSP00000272190:P25T	P	-	1	0	REN	202401972	1.000000	0.71417	0.796000	0.32109	0.140000	0.21249	2.679000	0.46909	1.069000	0.40788	-0.350000	0.07774	CCG	REN	-	superfamily_Peptidase_aspartic_dom	ENSG00000143839		0.582	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	-	0	57	0	G	NM_000537		204135349	-1	tier1	-	no_errors	ENST00000272190	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.904	T	T	204135349	G	T	204135349	3	4	97	1	0	0	0	0	1	0	0	0	13269	1232	43	3	1187	3	REN	1	204135349	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	394854	204135349	45115272	30	27642											
PLXNA2	5362	genome.wustl.edu	37	chr1	208217916	208217916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttgcagccgcttgaGagtgaggtcattttctcgag	7	13	12	9	2	2	2	1	2	1	1	3	4	2	2	1	1	3	3	1	1	0	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:208217916G>T	ENST00000367033.3	-	20	4568	c.3811C>A	c.(3811-3813)Ctc>Atc	p.L1271I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1271					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGCCGCTTGAGAGTGAGGTCA	0.562																																																	0													114	91	99					1																	208217916		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3811C>A	1.37:g.208217916G>T	ENSP00000356000:p.Leu1271Ile		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L1271I	ENST00000367033.3	37	c.3811	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.649839	0.87958	.	.	ENSG00000076356	ENST00000367033	T	0.00976	5.48	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	M	0.84846	2.72	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.03212	-1.1060	10	0.72032	D	0.01	.	18.2148	0.89881	0.0:0.0:1.0:0.0	.	1271	O75051	PLXA2_HUMAN	I	1271	ENSP00000356000:L1271I	ENSP00000356000:L1271I	L	-	1	0	PLXNA2	206284539	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.576000	0.82467	2.281000	0.76405	0.467000	0.42956	CTC	PLXNA2	-	NULL	ENSG00000076356		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	35	0	G	NM_025179		208217916	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	208217916	G	T	208217916	3	4	97	1	0	0	0	0	1	0	0	0	12159	942	33	3	1925	3	PLXNA2	1	208217916	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4082567	208217916	41032705	31	27643											
TRAF3IP3	80342	genome.wustl.edu	37	chr1	209946298	209946298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatttgctccagggacaGcttaatgaagacaaactgaa	14	9	8	10	0	0	3	0	2	0	1	2	4	2	4	2	1	3	2	2	1	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:209946298G>T	ENST00000367024.1	+	9	1224	c.708G>T	c.(706-708)caG>caT	p.Q236H	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.Q216H|TRAF3IP3_ENST00000477431.1_5'UTR|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.Q236H|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.Q216H|TRAF3IP3_ENST00000367023.1_5'UTR|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.Q216H			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	236						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCCAGGGACAGCTTAATGAAG	0.433																																																	0													96	89	91					1																	209946298		2203	4300	6503	SO:0001583	missense	0				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.708G>T	1.37:g.209946298G>T	ENSP00000355991:p.Gln236His		A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	NULL	p.Q236H	ENST00000367024.1	37	c.708	CCDS1490.2	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109850	0.37242	.	.	ENSG00000009790	ENST00000400959;ENST00000367025;ENST00000458110;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T;T	0.50277	0.78;0.76;0.75;0.76;0.75	5.36	1.43	0.22495	.	0.086522	0.50627	D	0.000117	T	0.62282	0.2415	M	0.67953	2.075	0.42680	D	0.993541	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.79108	0.992;0.988;0.983;0.976	T	0.60100	-0.7329	10	0.62326	D	0.03	-12.1808	10.582	0.45261	0.3524:0.0:0.6476:0.0	.	236;216;236;216	Q9Y228;Q9Y228-2;Q9Y228-3;E2QRE5	T3JAM_HUMAN;.;.;.	H	216;236;219;216;236;216	ENSP00000383743:Q216H;ENSP00000355992:Q236H;ENSP00000355993:Q216H;ENSP00000355991:Q236H;ENSP00000010338:Q216H	ENSP00000010338:Q216H	Q	+	3	2	TRAF3IP3	208012921	1.000000	0.71417	0.988000	0.46212	0.481000	0.33189	0.998000	0.29744	-0.185000	0.10550	-1.598000	0.00824	CAG	TRAF3IP3	-	NULL	ENSG00000009790		0.433	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	-	0	34	0	G			209946298	1	tier1	-	no_errors	ENST00000367024	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.996	T	T	209946298	G	T	209946298	3	4	97	1	0	0	0	0	1	0	0	0	16490	962	34	3	734	3	TRAF3IP3	1	209946298	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1728382	209946298	39304323	32	27644											
USH2A	7399	genome.wustl.edu	37	chr1	216251512	216251512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggtgaattcaccaccaGtggctggtctccggactccg	8	9	11	13	2	2	1	1	1	1	0	4	2	3	2	4	4	1	1	4	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:216251512G>T	ENST00000307340.3	-	27	5877	c.5491C>A	c.(5491-5493)Ctg>Atg	p.L1831M	RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.L1831M|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1831	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1831M(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCACCACCAGTGGCTGGTCT	0.438										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	lung(1)											95	98	97					1																	216251512		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5491C>A	1.37:g.216251512G>T	ENSP00000305941:p.Leu1831Met		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L1831M	ENST00000307340.3	37	c.5491	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247354	0.80024	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.82711	-1.64;-1.64	4.79	2.91	0.33838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.236590	0.21525	N	0.073160	D	0.86497	0.5947	M	0.71206	2.165	0.34644	D	0.720974	D	0.58970	0.984	P	0.62184	0.899	D	0.86104	0.1558	10	0.42905	T	0.14	.	5.8271	0.18560	0.1612:0.0:0.6847:0.1541	.	1831	O75445	USH2A_HUMAN	M	1831	ENSP00000305941:L1831M;ENSP00000355910:L1831M	ENSP00000305941:L1831M	L	-	1	2	USH2A	214318135	1.000000	0.71417	0.003000	0.11579	0.841000	0.47740	3.387000	0.52501	0.454000	0.26884	0.650000	0.86243	CTG	USH2A	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G	ENSG00000042781		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	35	0	G	NM_007123		216251512	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.663	T	T	216251512	G	T	216251512	3	4	97	1	0	0	0	0	1	0	0	0	17085	1020	36	3	10301	3	USH2A	1	216251512	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6305214	216251512	32999109	33	27645											
PARP1	142	genome.wustl.edu	37	chr1	226553715	226553715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagtgttcttaacatacttCctgatgatctcggcttcttc	7	17	7	10	1	3	3	0	3	3	0	6	3	4	3	1	1	2	2	1	1	2	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:226553715C>A	ENST00000366794.5	-	18	2588	c.2445G>T	c.(2443-2445)agG>agT	p.R815S	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	815	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TAACATACTTCCTGATGATCT	0.458								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													182	135	151					1																	226553715		2203	4300	6503	SO:0001583	missense	0			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"Poly (ADP-ribose) polymerases"	270	protein-coding gene	gene with protein product		173870	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)", "poly (ADP-ribose) polymerase family, member 1"	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2445G>T	1.37:g.226553715C>A	ENSP00000355759:p.Arg815Ser		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.R815S	ENST00000366794.5	37	c.2445	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	C	6.904	0.536313	0.13188	.	.	ENSG00000143799	ENST00000366794	T	0.13196	2.61	5.68	3.83	0.44106	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.201380	0.48767	D	0.000168	T	0.04952	0.0133	N	0.04043	-0.29	0.80722	D	1	B	0.14805	0.011	B	0.15870	0.014	T	0.32903	-0.9889	10	0.12103	T	0.63	.	5.39	0.16240	0.142:0.6243:0.0:0.2337	.	815	P09874	PARP1_HUMAN	S	815	ENSP00000355759:R815S	ENSP00000355759:R815S	R	-	3	2	PARP1	224620338	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.592000	0.23984	0.776000	0.33473	-0.142000	0.14014	AGG	PARP1	-	pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000143799		0.458	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	-	0	60	0	C	NM_001618		226553715	-1	tier1	-	no_errors	ENST00000366794	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.995	A	A	226553715	C	A	226553715	3	1	97	1	0	0	0	0	1	0	0	0	11493	854	30	3	623	3	PARP1	1	226553715	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	10302203	226553715	22696906	34	27646											
CDC42BPA	8476	genome.wustl.edu	37	chr1	227504836	227504836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattggtctgagcgggcccGtccaaaataaactgctccaa	11	8	9	13	2	1	1	0	1	1	0	3	1	3	1	4	2	3	1	4	2	5	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:227504836G>T	ENST00000366769.3	-	1	1339	c.48C>A	c.(46-48)gaC>gaA	p.D16E	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D16E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D16E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D16E	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCGGGCCCGTCCAAAATAA	0.418																																																	0													133	119	123					1																	227504836		2203	4300	6503	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"myotonic dystrophy kinase-related Cdc42-binding kinase"	603412	"CDC42-binding protein kinase alpha (DMPK-like)"				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.48C>A	1.37:g.227504836G>T	ENSP00000355731:p.Asp16Glu			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.D16E	ENST00000366769.3	37	c.48	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963091	0.34659	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.66638	-0.16;-0.14;-0.16;-0.19;-0.22;-0.17;-0.2	4.82	-3.4	0.04853	.	0.049253	0.85682	D	0.000000	T	0.55593	0.1930	L	0.59436	1.845	0.41548	D	0.988558	B;B;B;B	0.28998	0.23;0.009;0.07;0.011	B;B;B;B	0.22152	0.038;0.006;0.022;0.01	T	0.38650	-0.9651	10	0.51188	T	0.08	.	12.2783	0.54749	0.4731:0.0:0.5269:0.0	.	16;16;16;16	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	E	16	ENSP00000355731:D16E;ENSP00000355729:D16E;ENSP00000335341:D16E;ENSP00000355728:D16E;ENSP00000355726:D16E;ENSP00000443275:D16E;ENSP00000355727:D16E	ENSP00000335341:D16E	D	-	3	2	CDC42BPA	225571459	1.000000	0.71417	0.962000	0.40283	0.993000	0.82548	1.517000	0.35867	-0.919000	0.03803	-0.471000	0.05019	GAC	CDC42BPA	-	NULL	ENSG00000143776		0.418	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0	53	0	G	NM_014826		227504836	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	55.17	26	32	SNP	0.964	T	T	227504836	G	T	227504836	3	4	97	1	0	0	0	0	1	0	0	0	3079	1136	40	2	5255	2	CDC42BPA	1	227504836	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	951121	227504836	21745785	35	27647											
ARF1	375	genome.wustl.edu	37	chr1	228285661	228285661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgccaccagcggcgacGggctctatgaaggactggac	8	5	14	14	4	1	1	0	1	1	0	1	4	1	3	3	4	2	1	3	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:228285661G>A	ENST00000541182.1	+	5	755	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Missense_Mutation_p.G165R|ARF1_ENST00000540651.1_Missense_Mutation_p.G165R|MIR3620_ENST00000584469.1_RNA|C1orf35_ENST00000472617.1_5'Flank	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	165					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CAGCGGCGACGGGCTCTATGA	0.602																																																	0													66	59	62					1																	228285661		2203	4300	6503	SO:0001583	missense	0			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.493G>A	1.37:g.228285661G>A	ENSP00000440005:p.Gly165Arg		P10947|P32889	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G165R	ENST00000541182.1	37	c.493	CCDS1565.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181996	0.78677	.	.	ENSG00000143761	ENST00000272102;ENST00000540651;ENST00000542941;ENST00000541182	D;D;D	0.85861	-2.04;-2.04;-2.04	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	D	0.96605	0.8892	H	0.99855	4.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98247	1.0491	10	0.87932	D	0	-22.742	19.4067	0.94649	0.0:0.0:1.0:0.0	.	165	P84077	ARF1_HUMAN	R	165;165;156;165	ENSP00000272102:G165R;ENSP00000442980:G165R;ENSP00000440005:G165R	ENSP00000272102:G165R	G	+	1	0	ARF1	226352284	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	9.483000	0.97937	2.826000	0.97356	0.491000	0.48974	GGG	ARF1	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type	ENSG00000143761		0.602	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	HGNC	protein_coding	OTTHUMT00000091650.1	-	0	50	0	G	NM_001024227		228285661	1	tier1	-	no_errors	ENST00000272102	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	A	A	228285661	G	A	228285661	3	1	97	1	0	0	0	0	1	0	0	0	844	1116	39	1	507	1	ARF1	1	228285661	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	780825	228285661	20964960	36	27648											
PCNXL2	80003	genome.wustl.edu	37	chr1	233134179	233134179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcattgcaatccttcCgcatcctgtgggagggagaa	8	8	15	10	2	0	1	0	0	0	1	3	3	3	2	3	4	1	3	3	4	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:233134179C>T	ENST00000258229.9	-	32	5843	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1870						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAATCCTTCCGCATCCTGTG	0.582																																																	0													47	47	47					1																	233134179		1976	4164	6140	SO:0001583	missense	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"pecanex (Drosophila)-like 2"			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5609G>A	1.37:g.233134179C>T	ENSP00000258229:p.Arg1870Gln		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.R1870Q	ENST00000258229.9	37	c.5609	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718565	0.89205	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.26810	1.71;2.85	5.65	3.75	0.43078	.	0.106968	0.64402	D	0.000009	T	0.28200	0.0696	L	0.41906	1.305	0.80722	D	1	D;D	0.61697	0.987;0.99	P;P	0.50405	0.64;0.496	T	0.02885	-1.1098	10	0.54805	T	0.06	.	10.6376	0.45573	0.1338:0.7976:0.0:0.0686	.	1870;522	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	Q	522;1870	ENSP00000340759:R522Q;ENSP00000258229:R1870Q	ENSP00000258229:R1870Q	R	-	2	0	PCNXL2	231200802	0.993000	0.37304	0.972000	0.41901	0.664000	0.39144	3.054000	0.49908	1.514000	0.48869	0.563000	0.77884	CGG	PCNXL2	-	NULL	ENSG00000135749		0.582	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0	31	0	C	NM_014801		233134179	-1	tier1	-	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	38.89	22	14	SNP	1.000	T	T	233134179	C	T	233134179	3	4	97	1	0	0	0	0	1	0	0	0	11631	652	23	1	816	1	PCNXL2	1	233134179	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	4848518	233134179	16116442	37	27649											
CHRM3	1131	genome.wustl.edu	37	chr1	240071724	240071724	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctggaaacccagctccGagcagatggaccaagaccac	14	3	11	13	1	0	3	0	0	0	3	1	6	1	5	4	2	4	3	4	2	2	0	rs201132730		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr1:240071724G>T	ENST00000255380.4	+	5	1752	c.973G>T	c.(973-975)Gag>Tag	p.E325*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	325					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.E325*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCAGCTCCGAGCAGATGGA	0.547																																																	1	Substitution - Nonsense(1)	lung(1)											46	44	45					1																	240071724		2203	4300	6503	SO:0001587	stop_gained	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"Cholinergic receptors", "GPCR / Class A : Cholinergic receptors, muscarinic"	1952	protein-coding gene	gene with protein product	"acetylcholine receptor, muscarinic 3"	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.973G>T	1.37:g.240071724G>T	ENSP00000255380:p.Glu325*		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.E325*	ENST00000255380.4	37	c.973	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.210886	0.99101	.	.	ENSG00000133019	ENST00000255380	.	.	.	5.97	5.05	0.67936	.	0.316013	0.34002	N	0.004355	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-26.5778	10.561	0.45146	0.0687:0.1341:0.7973:0.0	.	.	.	.	X	325	.	ENSP00000255380:E325X	E	+	1	0	CHRM3	238138347	1.000000	0.71417	0.892000	0.35008	0.904000	0.53231	4.147000	0.58078	1.499000	0.48617	0.655000	0.94253	GAG	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000133019		0.547	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2		0	39	0	G	NM_000740		240071724	1			no_errors	ENST00000255380	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.886	T	T	240071724	G	T	240071724	4	4	97	1	0	0	0	0	0	1	0	0	3385	1059	37	2	975	2	CHRM3	1	240071724	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6937545	240071724	9178897	38	27650											
MSGN1	343930	genome.wustl.edu	37	chr2	17998337	17998337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagacctccttaaccgCggcagagagcccagagccca	11	4	9	17	2	1	3	1	0	0	3	2	4	2	3	5	1	3	1	5	1	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:17998337C>T	ENST00000281047.3	+	1	575	c.552C>T	c.(550-552)cgC>cgT	p.R184R		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	184					cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTTAACCGCGGCAGAGAGC	0.572																																					Melanoma(127;325 1712 14802 40657 49130)												0													34	36	35					2																	17998337		2021	4181	6202	SO:0001819	synonymous_variant	0				CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"paraxial mesogenin"	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.552C>T	2.37:g.17998337C>T				Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R184	ENST00000281047.3	37	c.552	CCDS42657.1	2																																																																																			MSGN1	-	superfamily_bHLH_dom,smart_bHLH_dom	ENSG00000151379		0.572	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MSGN1	HGNC	protein_coding	OTTHUMT00000353253.1	-	0	64	0	C	XM_292850		17998337	1	tier1	-	no_errors	ENST00000281047	ensembl	human	known	74_37	silent	53.73	31	36	SNP	0.033	T	T	17998337	C	T	17998337	2	4	97	1	0	0	0	0	0	0	0	1	9907	755	27	1		1	MSGN1	2	17998337	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09		17998337	225201036	39	27651											
DTNB	1838	genome.wustl.edu	37	chr2	25799868	25799868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagcactccacgggatGgaagacttgtggacaggaga	12	6	16	7	1	0	2	0	0	0	2	1	7	1	6	1	5	1	2	1	5	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:25799868G>T	ENST00000406818.3	-	8	964	c.715C>A	c.(715-717)Cat>Aat	p.H239N	DTNB_ENST00000407038.3_Missense_Mutation_p.H239N|DTNB_ENST00000496972.2_Missense_Mutation_p.H182N|DTNB_ENST00000405222.1_Missense_Mutation_p.H239N|DTNB_ENST00000404103.3_Missense_Mutation_p.H239N|DTNB_ENST00000545439.1_Missense_Mutation_p.H35N|DTNB_ENST00000407186.1_Missense_Mutation_p.H239N|DTNB_ENST00000407661.3_Missense_Mutation_p.H239N|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.H239N	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	239						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCACGGGATGGAAGACTTGT	0.468																																																	0													28	29	29					2																	25799868		2073	4242	6315	SO:0001583	missense	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.715C>A	2.37:g.25799868G>T	ENSP00000384084:p.His239Asn		B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.H239N	ENST00000406818.3	37	c.715	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.172332	0.94807	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.83	5.83	0.93111	Zinc finger, ZZ-type (2);	0.000000	0.85682	D	0.000000	D	0.95806	0.8635	H	0.95611	3.695	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;0.998	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.997;0.999;0.999;0.999;0.999	D	0.96579	0.9429	10	0.87932	D	0	-15.3962	18.6856	0.91562	0.0:0.0:1.0:0.0	.	239;35;182;239;239;182;239;239;239;239;239;239	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	N	182;239;239;239;239;239;239;239;35;92	ENSP00000444463:H182N;ENSP00000384084:H239N;ENSP00000385482:H239N;ENSP00000385193:H239N;ENSP00000384767:H239N;ENSP00000384787:H239N;ENSP00000385784:H239N;ENSP00000288642:H239N;ENSP00000444961:H35N	ENSP00000288642:H239N	H	-	1	0	DTNB	25653372	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.731000	0.98807	2.763000	0.94921	0.561000	0.74099	CAT	DTNB	-	smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	ENSG00000138101		0.468	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	-	0	51	0	G	NM_033147		25799868	-1	tier1	-	no_errors	ENST00000406818	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T	T	25799868	G	T	25799868	3	4	97	1	0	0	0	0	1	0	0	0	4803	1348	47	3	1220	3	DTNB	2	25799868	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7801531	25799868	217399505	40	27652											
CAD	790	genome.wustl.edu	37	chr2	27465264	27465264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacatcttcaccatccGtgaggagctgggaactgtca	9	9	12	11	1	3	1	2	1	1	0	4	4	4	4	2	3	2	2	2	3	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:27465264G>A	ENST00000403525.1	+	39	6146	c.6002G>A	c.(6001-6003)cGt>cAt	p.R2001H	CAD_ENST00000264705.4_Missense_Mutation_p.R2064H			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCACCATCCGTGAGGAGCTG	0.622																																																	0													37	37	37					2																	27465264		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6002G>A	2.37:g.27465264G>A	ENSP00000384510:p.Arg2001His		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.R2064H	ENST00000403525.1	37	c.6191		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.362182|5.362182	0.95877|0.95877	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000428460	D;D|.	0.98474|.	-4.95;-4.95|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);|.	0.120057|.	0.56097|.	D|.	0.000024|.	D|D	0.83367|0.83367	0.5239|0.5239	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	D|D	0.86463|0.86463	0.1780|0.1780	10|5	0.87932|.	D|.	0|.	3.4673|3.4673	16.9556|16.9556	0.86258|0.86258	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2001;2064|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	H|M	2064;2001|100	ENSP00000264705:R2064H;ENSP00000384510:R2001H|.	ENSP00000264705:R2064H|.	R|V	+|+	2|1	0|0	CAD|CAD	27318768|27318768	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.292000|7.292000	0.78731|0.78731	2.322000|2.322000	0.78497|0.78497	0.561000|0.561000	0.74099|0.74099	CGT|GTG	CAD	-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Asp_carbamoyltransf	ENSG00000084774		0.622	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0	43	0	G			27465264	1			no_errors	ENST00000264705	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	A	A	27465264	G	A	27465264	3	1	97	1	0	0	0	0	1	0	0	0	2572	1145	40	1	6349	1	CAD	2	27465264	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1665396	27465264	215734109	41	27653											
RASGRP3	25780	genome.wustl.edu	37	chr2	33783812	33783812	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcagagccatcacactGgttacaggctcttctcgcaa	11	8	9	13	1	3	1	1	0	2	1	4	2	3	1	1	2	3	4	1	2	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:33783812G>T	ENST00000403687.3	+	17	2519	c.1779G>T	c.(1777-1779)ctG>ctT	p.L593L	RASGRP3_ENST00000407811.1_Silent_p.L592L|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.L593L	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	593					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CCATCACACTGGTTACAGGCT	0.562																																																	0													74	69	71					2																	33783812		1981	4177	6158	SO:0001819	synonymous_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1779G>T	2.37:g.33783812G>T			D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.L593	ENST00000403687.3	37	c.1779	CCDS46256.1	2																																																																																			RASGRP3	-	NULL	ENSG00000152689		0.562	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2		0	17	0	G	NM_015376		33783812	1			no_errors	ENST00000402538	ensembl	human	known	74_37	silent	8.70	21	2	SNP	1.000	T	T	33783812	G	T	33783812	2	4	97	1	0	0	0	0	0	0	0	1	13121	1335	47	3		3	RASGRP3	2	33783812	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6318548	33783812	209415561	42	27654											
HEATR5B	54497	genome.wustl.edu	37	chr2	37230810	37230810	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggtgcaaaacactcAgcaactcaacacctatcagc	15	5	8	13	1	3	0	3	0	0	0	3	1	3	0	1	2	6	2	1	2	6	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:37230810A>T	ENST00000233099.5	-	31	5020	c.4925T>A	c.(4924-4926)cTg>cAg	p.L1642Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L1642Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1642						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAAAACACTCAGCAACTCAAC	0.348																																																	0													64	59	61					2																	37230810		2203	4300	6503	SO:0001583	missense	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4925T>A	2.37:g.37230810A>T	ENSP00000233099:p.Leu1642Gln		B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1642Q	ENST00000233099.5	37	c.4925	CCDS33181.1	2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179018	0.78564	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.70516	-0.49;-0.49	5.51	5.51	0.81932	Armadillo-type fold (1);	0.080624	0.53938	D	0.000055	T	0.81361	0.4806	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.83060	-0.0148	10	0.72032	D	0.01	-3.0637	15.9209	0.79570	1.0:0.0:0.0:0.0	.	1642	Q9P2D3	HTR5B_HUMAN	Q	1642	ENSP00000233099:L1642Q;ENSP00000346531:L1642Q	ENSP00000233099:L1642Q	L	-	2	0	HEATR5B	37084314	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.447000	0.90332	2.210000	0.71456	0.533000	0.62120	CTG	HEATR5B	-	superfamily_ARM-type_fold	ENSG00000008869		0.348	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1	-	0	56	0	A	NM_019024		37230810	-1	tier1	-	no_errors	ENST00000233099	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T	T	37230810	A	T	37230810	3	4	97	1	0	0	0	0	1	0	0	0	7059	188	7	5	1314	5	HEATR5B	2	37230810	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	3446998	37230810	205968563	43	27655											
LRPPRC	10128	genome.wustl.edu	37	chr2	44170940	44170940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatttcacctcttaaaGctgcgccatttagcatgtgg	9	15	7	10	1	3	0	2	0	1	0	3	0	3	0	2	1	3	2	2	1	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:44170940G>A	ENST00000260665.7	-	23	2447	c.2390C>T	c.(2389-2391)gCt>gTt	p.A797V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	797					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ACCTCTTAAAGCTGCGCCATT	0.398																																																	0													153	148	150					2																	44170940		2203	4300	6503	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2390C>T	2.37:g.44170940G>A	ENSP00000260665:p.Ala797Val		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.A797V	ENST00000260665.7	37	c.2390	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665759	0.88251	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.62498	0.02	6.06	6.06	0.98353	.	0.110840	0.64402	D	0.000013	T	0.80576	0.4649	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.78086	-0.2341	10	0.45353	T	0.12	-10.4715	20.6397	0.99537	0.0:0.0:1.0:0.0	.	697;797	F5H4J6;P42704	.;LPPRC_HUMAN	V	697;797	ENSP00000260665:A797V	ENSP00000260665:A797V	A	-	2	0	LRPPRC	44024444	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	8.834000	0.92094	2.880000	0.98712	0.650000	0.86243	GCT	LRPPRC	-	NULL	ENSG00000138095		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0	80	0	G	NM_133259		44170940	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	21.28	74	20	SNP	1.000	A	A	44170940	G	A	44170940	3	1	97	1	0	0	0	0	1	0	0	0	9000	971	34	3	1858	3	LRPPRC	2	44170940	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6940130	44170940	199028433	44	27656											
EPAS1	2034	genome.wustl.edu	37	chr2	46574120	46574120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagctgcctctgccccaCagtgtgagctcccatctgga	7	9	10	15	0	2	2	0	2	2	0	3	3	3	3	4	1	4	2	4	1	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:46574120C>A	ENST00000263734.3	+	2	645	c.135C>A	c.(133-135)caC>caA	p.H45Q	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	45	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGCCCCACAGTGTGAGCT	0.622																																																	0													122	112	116					2																	46574120		2203	4300	6503	SO:0001583	missense	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.135C>A	2.37:g.46574120C>A	ENSP00000263734:p.His45Gln		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.H45Q	ENST00000263734.3	37	c.135	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.573121	0.45902	.	.	ENSG00000116016	ENST00000449347;ENST00000263734	T;T	0.21191	2.02;2.02	4.86	3.02	0.34903	Helix-loop-helix DNA-binding (3);	0.214639	0.48767	N	0.000169	T	0.12987	0.0315	L	0.27975	0.815	0.50813	D	0.999893	B	0.19706	0.038	B	0.20577	0.03	T	0.08868	-1.0701	10	0.59425	D	0.04	.	4.7936	0.13261	0.2698:0.5265:0.1308:0.0729	.	45	Q99814	EPAS1_HUMAN	Q	45	ENSP00000406137:H45Q;ENSP00000263734:H45Q	ENSP00000263734:H45Q	H	+	3	2	EPAS1	46427624	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	1.851000	0.39338	0.615000	0.30124	0.561000	0.74099	CAC	EPAS1	-	superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000116016		0.622	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	HGNC	protein_coding	OTTHUMT00000250752.2	-	0	51	0	C	NM_001430		46574120	1	tier1	-	no_errors	ENST00000263734	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	A	A	46574120	C	A	46574120	3	1	97	1	0	0	0	0	1	0	0	0	5166	477	17	3	141	3	EPAS1	2	46574120	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2403180	46574120	196625253	45	27657											
CCDC88A	55704	genome.wustl.edu	37	chr2	55591107	55591107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaatatgtgcggcaacCgctgcttttgtatcaaaatc	10	14	8	9	2	2	1	1	1	1	0	3	1	2	1	1	1	3	4	1	1	6	5	rs374500852		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:55591107C>T	ENST00000436346.1	-	6	1306	c.465G>A	c.(463-465)gcG>gcA	p.A155A	CCDC88A_ENST00000263630.8_Silent_p.A155A|CCDC88A_ENST00000336838.6_Silent_p.A155A|CCDC88A_ENST00000413716.2_Silent_p.A155A	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	155					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTGCGGCAACCGCTGCTTTTG	0.284																																																	0													75	78	77					2																	55591107		2202	4296	6498	SO:0001819	synonymous_variant	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.465G>A	2.37:g.55591107C>T			A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.A155	ENST00000436346.1	37	c.465		2																																																																																			CCDC88A	-	pfam_Hook-related_fam	ENSG00000115355		0.284	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0	61	0	C	NM_017571		55591107	-1	tier1	-	no_errors	ENST00000436346	ensembl	human	known	74_37	silent	25.00	54	18	SNP	0.998	T	T	55591107	C	T	55591107	2	4	97	1	0	0	0	0	0	0	0	1	2870	639	23	1		1	CCDC88A	2	55591107	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	9016987	55591107	187608266	46	27658											
C2orf86	51057	genome.wustl.edu	37	chr2	63660881	63660881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttgttttagatttacctCtagtcttccttgagcataac	9	19	5	8	0	2	2	0	1	2	1	3	2	3	2	2	0	3	2	2	0	5	10			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:63660881C>T	ENST00000272321.7	-	9	1350	c.823G>A	c.(823-825)Gag>Aag	p.E275K	WDPCP_ENST00000398544.3_Missense_Mutation_p.E116K|WDPCP_ENST00000409562.3_Missense_Mutation_p.E275K|WDPCP_ENST00000409120.1_Missense_Mutation_p.E83K|WDPCP_ENST00000409199.1_Missense_Mutation_p.E83K|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	275					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AGATTTACCTCTAGTCTTCCT	0.353																																																	0													47	43	44					2																	63660881		1827	4086	5913	SO:0001583	missense	0				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"chromosome 2 open reading frame 86"	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.823G>A	2.37:g.63660881C>T	ENSP00000272321:p.Glu275Lys		Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	pfam_DUF3312,superfamily_WD40_repeat_dom	p.E275K	ENST00000272321.7	37	c.823	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164976	0.57476	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.43	5.43	0.79202	.	0.059482	0.64402	D	0.000003	T	0.68174	0.2972	M	0.69358	2.11	0.50467	D	0.999875	D;D;P;D	0.69078	0.997;0.996;0.638;0.983	D;D;B;P	0.77557	0.926;0.99;0.257;0.808	T	0.69639	-0.5091	10	0.59425	D	0.04	-10.6804	18.2201	0.89898	0.0:1.0:0.0:0.0	.	83;275;275;116	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	K	275;83;83;116;275	ENSP00000272321:E275K;ENSP00000386592:E83K;ENSP00000386769:E83K;ENSP00000381552:E116K;ENSP00000387222:E275K	ENSP00000272321:E275K	E	-	1	0	WDPCP	63514385	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	2.900000	0.48687	2.546000	0.85860	0.563000	0.77884	GAG	WDPCP	-	pfam_DUF3312	ENSG00000143951		0.353	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDPCP	HGNC	protein_coding	OTTHUMT00000326820.1	-	0	41	0	C	NM_015910		63660881	-1	tier1	-	no_errors	ENST00000272321	ensembl	human	known	74_37	missense	25.58	32	11	SNP	1.000	T	T	63660881	C	T	63660881	3	4	97	1	0	0	0	0	1	0	0	0	2208	922	32	3	1457	3	C2orf86	2	63660881	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	8069774	63660881	179538492	47	27659											
APLF	200558	genome.wustl.edu	37	chr2	68805073	68805073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagatgaagattctgactgGgaaccaggaaaggaagatga	17	6	13	5	0	1	6	0	3	1	3	1	9	1	9	1	3	1	0	1	3	4	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:68805073G>T	ENST00000303795.4	+	10	1626	c.1455G>T	c.(1453-1455)tgG>tgT	p.W485C	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	485					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						ATTCTGACTGGGAACCAGGAA	0.383																																																	0													134	139	137					2																	68805073		2203	4300	6503	SO:0001583	missense	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"XRCC1-interacting protein 1", "zinc finger, CX5CX6HX5H motif containing 1"	611035	"chromosome 2 open reading frame 13"	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1455G>T	2.37:g.68805073G>T	ENSP00000307004:p.Trp485Cys		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.W485C	ENST00000303795.4	37	c.1455	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898065	0.72639	.	.	ENSG00000169621	ENST00000303795	T	0.32988	1.43	5.59	5.59	0.84812	.	0.128167	0.56097	D	0.000026	T	0.56411	0.1983	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.57418	-0.7815	10	0.72032	D	0.01	.	18.3684	0.90399	0.0:0.0:1.0:0.0	.	485	Q8IW19	APLF_HUMAN	C	485	ENSP00000307004:W485C	ENSP00000307004:W485C	W	+	3	0	APLF	68658577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.548000	0.73896	2.634000	0.89283	0.650000	0.86243	TGG	APLF	-	NULL	ENSG00000169621		0.383	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1		0	77	0	G	NM_173545		68805073	1			no_errors	ENST00000303795	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	68805073	G	T	68805073	3	4	97	1	0	0	0	0	1	0	0	0	776	1241	43	3	1493	3	APLF	2	68805073	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5144192	68805073	174394300	48	27660											
LRRTM4	80059	genome.wustl.edu	37	chr2	77746589	77746589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagaggtccagattgcGgagattgggaactgggtgaa	11	8	18	4	1	0	4	0	1	0	3	1	7	1	5	1	5	2	1	1	5	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:77746589G>A	ENST00000409093.1	-	3	742	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	LRRTM4_ENST00000409911.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409282.1_Missense_Mutation_p.R137C|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R136C|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R136C			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	136					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TCCAGATTGCGGAGATTGGGA	0.383																																																	0													106	96	99					2																	77746589		1845	4087	5932	SO:0001583	missense	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.406C>T	2.37:g.77746589G>A	ENSP00000386357:p.Arg136Cys		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R137C	ENST00000409093.1	37	c.409	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811145	0.50527	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.24657	-1.0154	10	0.87932	D	0	.	13.3218	0.60436	0.0:0.0:0.8419:0.1581	.	137;136;136	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	C	137;136;136;136;137	ENSP00000387228:R137C;ENSP00000387297:R136C;ENSP00000386357:R136C;ENSP00000386236:R136C;ENSP00000386286:R137C	ENSP00000386236:R136C	R	-	1	0	LRRTM4	77600097	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.599000	0.74127	2.674000	0.91012	0.655000	0.94253	CGC	LRRTM4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.383	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	-	0	96	0	G	NM_024993		77746589	-1	tier1	-	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	56.52	30	39	SNP	1.000	A	A	77746589	G	A	77746589	3	1	97	1	0	0	0	0	1	0	0	0	9077	1116	39	1	1380	1	LRRTM4	2	77746589	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8941516	77746589	165452784	49	27661											
CTNNA2	1496	genome.wustl.edu	37	chr2	80085246	80085246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgctctccgcggtgacaCgcttactcatcctggcggac	5	11	10	15	4	2	1	1	1	1	0	4	2	3	2	2	3	2	2	2	3	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:80085246C>T	ENST00000402739.4	+	3	411	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R136C|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R136C|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R136C|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R170C|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R136C	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	136					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R136C(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGCGGTGACACGCTTACTCAT	0.512																																																	2	Substitution - Missense(2)	pancreas(2)											77	77	77					2																	80085246		2067	4188	6255	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.406C>T	2.37:g.80085246C>T	ENSP00000384638:p.Arg136Cys		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R170C	ENST00000402739.4	37	c.508		2	.	.	.	.	.	.	.	.	.	.	C	35	5.526062	0.96431	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.76198	0.3954	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.984;0.993;0.961	T	0.80788	-0.1226	10	0.87932	D	0	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	136;136;136	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	C	136;136;170;136;136;136	ENSP00000418191:R136C;ENSP00000419295:R136C;ENSP00000355398:R170C;ENSP00000384638:R136C;ENSP00000444675:R136C;ENSP00000441705:R136C	ENSP00000355398:R170C	R	+	1	0	CTNNA2	79938754	1.000000	0.71417	0.913000	0.36048	0.946000	0.59487	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	CGC	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000066032		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0	37	0	C	NM_004389		80085246	1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	T	T	80085246	C	T	80085246	3	4	97	1	0	0	0	0	1	0	0	0	4022	536	19	1	416	1	CTNNA2	2	80085246	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2338657	80085246	163114127	50	27662											
C2orf89	129293	genome.wustl.edu	37	chr2	85049137	85049137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggccaccatctggctGtggtgggaatgcccacggcg	5	8	15	13	2	1	0	0	0	1	0	1	1	1	1	3	5	2	2	3	5	1	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:85049137G>A	ENST00000409520.2	-	7	1464	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Silent_p.H425H	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	474					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CCATCTGGCTGTGGTGGGAAT	0.602																																																	0													33	37	36					2																	85049137		2060	4229	6289	SO:0001819	synonymous_variant	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1422C>T	2.37:g.85049137G>A			B4DKK8|I6UMB9	Silent	SNP	NULL	p.H474	ENST00000409520.2	37	c.1422		2																																																																																			TRABD2A	-	NULL	ENSG00000186854		0.602	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		-	0	51	0	G	NM_001080824		85049137	-1	tier1	-	no_errors	ENST00000409520	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.712	A	A	85049137	G	A	85049137	2	1	97	1	0	0	0	0	0	0	0	1	2210	1368	48	3		3	C2orf89	2	85049137	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4963891	85049137	158150236	51	27663											
KDM3A	55818	genome.wustl.edu	37	chr2	86712884	86712884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggccaacattccactgcCcgagtacacaaggcgagatg	12	6	11	12	2	0	1	0	0	0	1	1	4	1	1	3	2	3	1	3	2	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:86712884C>A	ENST00000409556.1	+	22	3580	c.3215C>A	c.(3214-3216)cCc>cAc	p.P1072H	KDM3A_ENST00000409064.1_Missense_Mutation_p.P1072H|KDM3A_ENST00000542128.1_Missense_Mutation_p.P1020H|KDM3A_ENST00000312912.5_Missense_Mutation_p.P1072H			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1072	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATTCCACTGCCCGAGTACACA	0.433																																					NSCLC(96;1150 1523 6936 46253 49736)												0													133	120	125					2																	86712884		2203	4300	6503	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"Chromatin-modifying enzymes / K-demethylases"	20815	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 2A"	611512	"jumonji domain containing 1", "jumonji domain containing 1A"	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3215C>A	2.37:g.86712884C>A	ENSP00000386660:p.Pro1072His		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.P1072H	ENST00000409556.1	37	c.3215	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661507	0.88154	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.92322	0.7564	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.973	D	0.92174	0.5746	10	0.66056	D	0.02	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	1020;1072	F5H070;Q9Y4C1	.;KDM3A_HUMAN	H	1072;1072;1072;1072;1020	ENSP00000386660:P1072H;ENSP00000323659:P1072H;ENSP00000386516:P1072H;ENSP00000438324:P1020H	ENSP00000323659:P1072H	P	+	2	0	KDM3A	86566395	1.000000	0.71417	0.903000	0.35520	0.759000	0.43091	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	CCC	KDM3A	-	smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000115548		0.433	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2		0	37	0	C	NM_018433		86712884	1			no_errors	ENST00000312912	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	A	A	86712884	C	A	86712884	3	1	97	1	0	0	0	0	1	0	0	0	8153	623	22	3	3293	3	KDM3A	2	86712884	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	1663747	86712884	156486489	52	27664											
VWA3B	200403	genome.wustl.edu	37	chr2	98709643	98709643	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaaacagacttggctGagcagagtctcatttcatct	13	10	7	11	0	3	3	2	1	2	2	4	3	3	3	1	1	2	2	1	1	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:98709643G>T	ENST00000477737.1	+	2	292	c.88G>T	c.(88-90)Gag>Tag	p.E30*	VWA3B_ENST00000451075.2_5'UTR|VWA3B_ENST00000435344.1_Nonsense_Mutation_p.E30*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	30										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGACTTGGCTGAGCAGAGTCT	0.453																																																	0													114	107	110					2																	98709643		1965	4166	6131	SO:0001587	stop_gained	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.88G>T	2.37:g.98709643G>T	ENSP00000417955:p.Glu30*		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E30*	ENST00000477737.1	37	c.88	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704813	0.88924	.	.	ENSG00000168658	ENST00000435344;ENST00000477737	.	.	.	5.22	-4.27	0.03744	.	0.990599	0.08217	N	0.979737	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	1.786	0.03041	0.3669:0.2183:0.3041:0.1107	.	.	.	.	X	30	.	ENSP00000411168:E30X	E	+	1	0	VWA3B	98076075	0.162000	0.22906	0.001000	0.08648	0.551000	0.35334	0.419000	0.21247	-0.614000	0.05687	-0.145000	0.13849	GAG	VWA3B	-	NULL	ENSG00000168658		0.453	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2		0	41	0	G	NM_144992		98709643	1			no_errors	ENST00000477737	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	0.000	T	T	98709643	G	T	98709643	4	4	97	1	0	0	0	0	0	1	0	0	17290	1291	45	3	90	3	VWA3B	2	98709643	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	11996759	98709643	144489730	53	27665											
IL1R2	7850	genome.wustl.edu	37	chr2	102626039	102626039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggggctgccagaagctGccggtttcgtgggaggcatt	6	10	16	9	2	1	1	1	0	0	1	2	2	1	2	2	5	3	4	2	5	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:102626039G>T	ENST00000332549.3	+	3	312	c.83G>T	c.(82-84)tGc>tTc	p.C28F	IL1R2_ENST00000393414.2_Missense_Mutation_p.C28F|IL1R2_ENST00000441002.1_Missense_Mutation_p.C28F	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	28	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GCCAGAAGCTGCCGGTTTCGT	0.597																																					Pancreas(106;189 1628 2302 5133 12295)												0													88	92	90					2																	102626039		2203	4300	6503	SO:0001583	missense	0			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.83G>T	2.37:g.102626039G>T	ENSP00000330959:p.Cys28Phe		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ	p.C28F	ENST00000332549.3	37	c.83	CCDS2054.1	2	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779444	0.70107	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.53423	1.14;1.14;0.62;1.36	5.8	5.8	0.92144	Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.85197	2.74	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.76631	-0.2888	10	0.87932	D	0	.	16.9705	0.86297	0.0:0.0:1.0:0.0	.	28	P27930	IL1R2_HUMAN	F	28	ENSP00000330959:C28F;ENSP00000377066:C28F;ENSP00000408415:C28F;ENSP00000414611:C28F	ENSP00000330959:C28F	C	+	2	0	IL1R2	101992471	0.999000	0.42202	0.453000	0.27007	0.045000	0.14185	5.227000	0.65305	2.758000	0.94735	0.561000	0.74099	TGC	IL1R2	-	pfscan_Ig-like_dom	ENSG00000115590		0.597	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R2	HGNC	protein_coding	OTTHUMT00000253191.1		0	37	0	G	NM_004633		102626039	1			no_errors	ENST00000332549	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.956	T	T	102626039	G	T	102626039	3	4	97	1	0	0	0	0	1	0	0	0	7686	1319	46	3	89	3	IL1R2	2	102626039	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3916396	102626039	140573334	54	27666											
ST6GAL2	84620	genome.wustl.edu	37	chr2	107460353	107460353	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtcggtgaagtagatGaaaatcagcaaaaagaggag	16	8	13	4	1	1	4	1	2	0	2	2	5	1	5	0	2	2	3	0	2	6	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:107460353G>T	ENST00000409382.3	-	2	691	c.81C>A	c.(79-81)ttC>ttA	p.F27L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.F27L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.F27L|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	27					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TGAAGTAGATGAAAATCAGCA	0.567																																																	0													41	49	46					2																	107460353		2203	4300	6503	SO:0001583	missense	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"sialyltransferase 2 (monosialoganglioside sialyltransferase)"	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.81C>A	2.37:g.107460353G>T	ENSP00000386942:p.Phe27Leu		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.F27L	ENST00000409382.3	37	c.81	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	G	9.174	1.021847	0.19433	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087;ENST00000419159	T;T;T	0.23348	2.99;2.99;1.91	5.74	4.87	0.63330	.	0.047229	0.85682	D	0.000000	T	0.15392	0.0371	L	0.28458	0.855	0.52099	D	0.999942	P;P	0.40619	0.724;0.603	B;B	0.34452	0.183;0.089	T	0.07309	-1.0779	10	0.19147	T	0.46	-36.9976	10.0527	0.42225	0.1524:0.0:0.8476:0.0	.	27;27	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	27	ENSP00000355273:F27L;ENSP00000386942:F27L;ENSP00000387332:F27L	ENSP00000355273:F27L	F	-	3	2	ST6GAL2	106826785	1.000000	0.71417	0.997000	0.53966	0.057000	0.15508	3.665000	0.54532	1.430000	0.47334	-0.136000	0.14681	TTC	ST6GAL2	-	NULL	ENSG00000144057		0.567	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1	-	0	64	0	G	NM_032528		107460353	-1	tier1	-	no_errors	ENST00000361686	ensembl	human	known	74_37	missense	34.48	38	20	SNP	1.000	T	T	107460353	G	T	107460353	3	4	97	1	0	0	0	0	1	0	0	0	15269	1281	45	3	1615	3	ST6GAL2	2	107460353	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4834314	107460353	135739020	55	27667											
UPP2	151531	genome.wustl.edu	37	chr2	158991272	158991272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctagctgctgtggtctGtgtgacacttctcgacagac	6	14	10	11	1	4	2	0	1	4	1	5	3	4	2	0	1	2	2	0	1	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:158991272G>T	ENST00000005756.4	+	7	1018	c.824G>T	c.(823-825)tGt>tTt	p.C275F	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000605860.1_Missense_Mutation_p.C332F|UPP2-IT1_ENST00000439185.1_RNA|UPP2_ENST00000409859.4_Missense_Mutation_p.C332F	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	275					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GCTGTGGTCTGTGTGACACTT	0.478																																																	0													154	130	138					2																	158991272		2203	4300	6503	SO:0001583	missense	0			AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.824G>T	2.37:g.158991272G>T	ENSP00000005756:p.Cys275Phe		B3KV87	Missense_Mutation	SNP	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	p.C332F	ENST00000005756.4	37	c.995	CCDS2207.1	2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532510	0.64972	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.87887	-2.31;-2.31	5.14	3.33	0.38152	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.91818	0.5465	10	0.87932	D	0	.	6.4687	0.21995	0.0911:0.0:0.7303:0.1786	.	275	O95045	UPP2_HUMAN	F	332;275	ENSP00000387230:C332F;ENSP00000005756:C275F	ENSP00000005756:C275F	C	+	2	0	UPP2	158699518	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	5.217000	0.65252	0.741000	0.32674	0.650000	0.86243	TGT	UPP2	-	pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk	ENSG00000007001		0.478	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPP2	HGNC	protein_coding	OTTHUMT00000254929.2	-	0	70	0	G	NM_173355		158991272	1	tier1	-	no_errors	ENST00000409859	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	158991272	G	T	158991272	3	4	97	1	0	0	0	0	1	0	0	0	17062	1377	48	3	1029	3	UPP2	2	158991272	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	51530919	158991272	84208101	56	27668											
LRP2	4036	genome.wustl.edu	37	chr2	169985205	169985205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctttaacaagatttgCggtgtctttaaaagtgtctt	9	18	8	6	1	4	1	0	0	4	1	4	1	4	1	0	1	2	0	0	1	4	7	rs202210831		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:169985205C>T	ENST00000263816.3	-	79	14221	c.13936G>A	c.(13936-13938)Gca>Aca	p.A4646T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4646					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.A4646T(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	ACAAGATTTGCGGTGTCTTTA	0.398																																																	1	Substitution - Missense(1)	lung(1)											146	149	148					2																	169985205		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13936G>A	2.37:g.169985205C>T	ENSP00000263816:p.Ala4646Thr		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A4646T	ENST00000263816.3	37	c.13936	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915722	0.92178	.	.	ENSG00000081479	ENST00000263816	D	0.91237	-2.81	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92649	0.6131	10	0.51188	T	0.08	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	4646	P98164	LRP2_HUMAN	T	4646	ENSP00000263816:A4646T	ENSP00000263816:A4646T	A	-	1	0	LRP2	169693451	1.000000	0.71417	0.153000	0.22517	0.676000	0.39594	7.428000	0.80296	2.770000	0.95276	0.650000	0.86243	GCA	LRP2	-	NULL	ENSG00000081479		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2		0	45	0	C	NM_004525		169985205	-1			no_errors	ENST00000263816	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	169985205	C	T	169985205	3	4	97	1	0	0	0	0	1	0	0	0	8991	768	27	1	35	1	LRP2	2	169985205	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	10993933	169985205	73214168	57	27669											
TTN	7273	genome.wustl.edu	37	chr2	179418646	179418646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgagcacttaccaataGgatcagcagctttgtagaat	13	11	10	7	0	1	2	1	1	0	1	1	3	1	3	1	2	4	5	1	2	6	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179418646G>T	ENST00000591111.1	-	283	84493	c.84269C>A	c.(84268-84270)cCt>cAt	p.P28090H	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P29731H|TTN_ENST00000342992.6_Missense_Mutation_p.P27163H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P20858H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P20791H|TTN_ENST00000460472.2_Missense_Mutation_p.P20666H|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28090	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTACCAATAGGATCAGCAGC	0.388																																																	0													58	59	58					2																	179418646		1928	4140	6068	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84269C>A	2.37:g.179418646G>T	ENSP00000465570:p.Pro28090His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P27163H	ENST00000591111.1	37	c.81488		2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981075	0.74474	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68765	-0.35;-0.1;-0.13;-0.13	5.61	5.61	0.85477	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86091	0.5850	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.88064	0.2796	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20666;20791;20858;28090	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	27163;20666;20858;20791;20663	ENSP00000343764:P27163H;ENSP00000434586:P20666H;ENSP00000340554:P20858H;ENSP00000352154:P20791H	ENSP00000340554:P20858H	P	-	2	0	TTN	179126892	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	CCT	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	44	0	G	NM_133378		179418646	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	179418646	G	T	179418646	3	4	97	1	0	0	0	0	1	0	0	0	16784	1000	35	3	18907	3	TTN	2	179418646	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9433441	179418646	63780727	58	27670											
TTN	7273	genome.wustl.edu	37	chr2	179431031	179431031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaatgtgaattctggCagatccaccagctcttacaa	13	10	9	9	0	2	2	0	1	2	1	3	4	3	3	2	2	2	2	2	2	5	2	rs397517715		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179431031C>A	ENST00000591111.1	-	276	75129	c.74905G>T	c.(74905-74907)Gcc>Tcc	p.A24969S	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A26610S|TTN_ENST00000342992.6_Missense_Mutation_p.A24042S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A17737S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A17670S|TTN_ENST00000460472.2_Missense_Mutation_p.A17545S|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24969	Ig-like 123.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATTCTGGCAGATCCACCA	0.433																																																	0													168	165	166					2																	179431031		1968	4184	6152	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74905G>T	2.37:g.179431031C>A	ENSP00000465570:p.Ala24969Ser		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A24042S	ENST00000591111.1	37	c.72124		2	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772979	0.31411	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.91	5.03	0.67393	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48677	0.1513	M	0.62154	1.92	0.29795	N	0.832888	B;B;B;B	0.17852	0.024;0.024;0.024;0.024	B;B;B;B	0.26416	0.069;0.069;0.069;0.069	T	0.53401	-0.8444	9	0.87932	D	0	.	11.54	0.50661	0.0:0.8064:0.1262:0.0673	.	17545;17670;17737;24969	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	24042;17545;17737;17670;17543	ENSP00000343764:A24042S;ENSP00000434586:A17545S;ENSP00000340554:A17737S;ENSP00000352154:A17670S	ENSP00000340554:A17737S	A	-	1	0	TTN	179139277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.250000	0.51445	1.488000	0.48433	0.555000	0.69702	GCC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	66	0	C	NM_133378		179431031	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.78	38	15	SNP	1.000	A	A	179431031	C	A	179431031	3	1	97	1	0	0	0	0	1	0	0	0	16784	710	25	3	28299	3	TTN	2	179431031	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	12385	179431031	63768342	59	27671											
TTN	7273	genome.wustl.edu	37	chr2	179479678	179479678	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataccatttgccttcctcaAgacctgtcacttccattctg	8	14	4	15	0	3	1	2	0	1	1	5	1	5	1	5	0	2	0	5	0	2	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179479678A>C	ENST00000591111.1	-	210	43957	c.43733T>G	c.(43732-43734)cTt>cGt	p.L14578R	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L16219R|TTN_ENST00000342992.6_Missense_Mutation_p.L13651R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L7346R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.L7279R|TTN_ENST00000460472.2_Missense_Mutation_p.L7154R			Q8WZ42	TITIN_HUMAN	titin	14578	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			Gccttcctcaagacctgtcac	0.438																																																	0													102	93	96					2																	179479678		1929	4137	6066	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43733T>G	2.37:g.179479678A>C	ENSP00000465570:p.Leu14578Arg		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L13651R	ENST00000591111.1	37	c.40952		2	.	.	.	.	.	.	.	.	.	.	A	13.19	2.162818	0.38217	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.95376	0.8499	H	0.97365	3.99	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96975	0.9711	9	0.87932	D	0	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	7154;7279;7346;14578	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	13651;7154;7346;7279;7154	ENSP00000343764:L13651R;ENSP00000434586:L7154R;ENSP00000340554:L7346R;ENSP00000352154:L7279R	ENSP00000340554:L7346R	L	-	2	0	TTN	179187923	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.991000	0.76232	2.263000	0.75096	0.533000	0.62120	CTT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	45	0	A	NM_133378		179479678	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.999	C	C	179479678	A	C	179479678	3	2	97	1	0	0	0	0	1	0	0	0	16784	72	3	4	59449	4	TTN	2	179479678	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	48647	179479678	63719695	60	27672											
TTN	7273	genome.wustl.edu	37	chr2	179642228	179642228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccattccccagaatcactggGtgtggcagggacaataatta	12	9	10	10	0	1	1	1	0	0	1	2	2	2	2	3	3	0	1	3	3	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:179642228G>T	ENST00000591111.1	-	26	4788	c.4564C>A	c.(4564-4566)Ccc>Acc	p.P1522T	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P1522T|TTN_ENST00000342992.6_Missense_Mutation_p.P1522T|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P1476T|TTN_ENST00000360870.5_Missense_Mutation_p.P1522T|TTN_ENST00000359218.5_Missense_Mutation_p.P1476T|TTN_ENST00000460472.2_Missense_Mutation_p.P1476T			Q8WZ42	TITIN_HUMAN	titin	12386	Ig-like 6.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCACTGGGTGTGGCAGGG	0.383																																																	0													49	49	49					2																	179642228		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4564C>A	2.37:g.179642228G>T	ENSP00000465570:p.Pro1522Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.P1522T	ENST00000591111.1	37	c.4564		2	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084518	0.55861	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	6.01	6.01	0.97437	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86744	0.6006	M	0.70275	2.135	0.47698	D	0.999495	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	D	0.86619	0.1878	9	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	1476;1476;1476;1522;1522	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	1522;1476;1476;1476;1476;1522	ENSP00000343764:P1522T;ENSP00000434586:P1476T;ENSP00000340554:P1476T;ENSP00000352154:P1476T;ENSP00000354117:P1522T	ENSP00000340554:P1476T	P	-	1	0	TTN	179350473	1.000000	0.71417	0.978000	0.43139	0.920000	0.55202	7.848000	0.86902	2.861000	0.98227	0.650000	0.86243	CCC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	42	0	G	NM_133378		179642228	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	T	T	179642228	G	T	179642228	3	4	97	1	0	0	0	0	1	0	0	0	16784	1261	44	3	106772	3	TTN	2	179642228	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	162550	179642228	63557145	61	27673											
COL3A1	1281	genome.wustl.edu	37	chr2	189873924	189873924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcagagacctgaaatTctgccatcctgaactcaaga	15	8	7	11	0	2	4	1	2	1	2	3	5	3	4	3	0	4	1	3	0	4	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:189873924T>A	ENST00000304636.3	+	48	3970	c.3800T>A	c.(3799-3801)tTc>tAc	p.F1267Y	COL3A1_ENST00000317840.5_Missense_Mutation_p.F964Y	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1267	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GACCTGAAATTCTGCCATCCT	0.398																																																	0													56	61	59					2																	189873924		2203	4300	6503	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"Collagens"	2201	protein-coding gene	gene with protein product		120180	"Ehlers-Danlos syndrome type IV, autosomal dominant"	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3800T>A	2.37:g.189873924T>A	ENSP00000304408:p.Phe1267Tyr		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.F1267Y	ENST00000304636.3	37	c.3800	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030705	0.75504	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	T;T	0.73047	-0.71;-0.71	5.6	5.6	0.85130	Fibrillar collagen, C-terminal (3);	0.000000	0.53938	D	0.000045	T	0.63815	0.2543	N	0.25144	0.715	0.31275	N	0.691275	D	0.59767	0.986	P	0.53006	0.715	T	0.60994	-0.7152	10	0.02654	T	1	.	15.7802	0.78255	0.0:0.0:0.0:1.0	.	1267	P02461	CO3A1_HUMAN	Y	1267;964	ENSP00000304408:F1267Y;ENSP00000315243:F964Y	ENSP00000304408:F1267Y	F	+	2	0	COL3A1	189582169	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.040000	0.89188	2.125000	0.65367	0.482000	0.46254	TTC	COL3A1	-	pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C	ENSG00000168542		0.398	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0	50	0	T	NM_000090		189873924	1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	missense	55.56	20	25	SNP	1.000	A	A	189873924	T	A	189873924	3	1	97	1	0	0	0	0	1	0	0	0	3695	1783	62	5	3990	5	COL3A1	2	189873924	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	10231696	189873924	53325449	62	27674											
MSTN	2660	genome.wustl.edu	37	chr2	190924808	190924808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccatcttctcctggtcCtgggaaggttacagcaagat	9	10	10	12	0	2	1	0	0	2	1	4	2	3	2	3	3	3	2	3	3	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:190924808C>T	ENST00000260950.4	-	2	859	c.727G>A	c.(727-729)Gga>Aga	p.G243R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	243					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TCTCCTGGTCCTGGGAAGGTT	0.348																																																	0													122	120	121					2																	190924808		2203	4300	6503	SO:0001583	missense	0			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"growth differentiation factor 8"	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.727G>A	2.37:g.190924808C>T	ENSP00000260950:p.Gly243Arg		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.G243R	ENST00000260950.4	37	c.727	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493228	0.26774	.	.	ENSG00000138379	ENST00000260950	T	0.66280	-0.2	5.25	4.38	0.52667	Transforming growth factor-beta, N-terminal (1);	0.218941	0.46442	N	0.000283	T	0.47967	0.1474	L	0.27053	0.805	0.43642	D	0.996043	B	0.02656	0.0	B	0.06405	0.002	T	0.37126	-0.9719	10	0.22706	T	0.39	-6.8459	14.0005	0.64431	0.0:0.9274:0.0:0.0726	.	243	O14793	GDF8_HUMAN	R	243	ENSP00000260950:G243R	ENSP00000260950:G243R	G	-	1	0	MSTN	190633053	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.183000	0.50918	1.453000	0.47775	0.585000	0.79938	GGA	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.348	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2		0	27	0	C	NM_005259		190924808	-1			no_errors	ENST00000260950	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	190924808	C	T	190924808	3	4	97	1	0	0	0	0	1	0	0	0	9931	690	24	3	408	3	MSTN	2	190924808	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	1050884	190924808	52274565	63	27675											
DNAH7	56171	genome.wustl.edu	37	chr2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T																															agtcagagtcatcgctaataINStttttttttacaagtgatga																								rs397987193|rs71015736|rs34468832		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:196788373_196788374insT	ENST00000312428.6	-	23	3870_3871	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCGCTAATATTTTTTTTTAC	0.421																																																	0										0,3664		0,0,1832						-9.7	0		dbSNP_126	97	3,7917		0,3,3957	no	frameshift	DNAH7	NM_018897.2		0,3,5789	A1A1,A1R,RR		0.0379,0.0,0.0259				3,11581				SO:0001589	frameshift_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3771dupA	2.37:g.196788382_196788382dupT	ENSP00000311273:p.Asn1257fs		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.N1257fs	ENST00000312428.6	37	c.3771_3770	CCDS42794.1	2																																																																																			DNAH7	-	NULL	ENSG00000118997		0.421	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0	28	0	-	NM_018897		196788374	-1	tier1		no_errors	ENST00000312428	ensembl	human	known	74_37	frame_shift_ins	11.11	16	2	INS	0.000:0.000	T	T	196788374	-	T	196788373	7	5	97	1	0	1	1	0	0	0	0	0	4620	446	16	0	8475	0	DNAH7	2	196788373	Frame_Shift_Ins	INS	-	TCGA-L7-A6VZ-01A-12D-A33E-09	5863565	196788373	46411000	64	27676											
ERBB4	2066	genome.wustl.edu	37	chr2	212293154	212293154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctccaaacgtcactctGatgggtgaatttcctgtaat	11	13	8	9	1	2	2	1	2	1	0	4	2	4	2	2	1	2	2	2	1	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:212293154G>T	ENST00000342788.4	-	22	3008	c.2698C>A	c.(2698-2700)Cag>Aag	p.Q900K	ERBB4_ENST00000436443.1_Missense_Mutation_p.Q900K|ERBB4_ENST00000402597.1_Missense_Mutation_p.Q890K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	900	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACGTCACTCTGATGGGTGAAT	0.299										TSP Lung(8;0.080)																																							0													88	91	90					2																	212293154		2203	4293	6496	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2698C>A	2.37:g.212293154G>T	ENSP00000342235:p.Gln900Lys		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q900K	ENST00000342788.4	37	c.2698	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.323768	0.95708	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.57752	0.38;0.38;0.38	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.051175	0.85682	D	0.000000	T	0.43897	0.1268	N	0.00462	-1.47	0.80722	D	1	P;D;D;D	0.76494	0.77;0.999;0.999;0.999	P;D;D;D	0.80764	0.728;0.983;0.989;0.994	T	0.74612	-0.3607	10	0.87932	D	0	.	19.5886	0.95498	0.0:0.0:1.0:0.0	.	890;890;900;900	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	K	900;900;890	ENSP00000342235:Q900K;ENSP00000403204:Q900K;ENSP00000385565:Q890K	ENSP00000342235:Q900K	Q	-	1	0	ERBB4	212001399	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.645000	0.98471	2.629000	0.89072	0.650000	0.86243	CAG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000178568		0.299	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0	61	0	G	NM_001042599		212293154	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	212293154	G	T	212293154	3	4	97	1	0	0	0	0	1	0	0	0	5225	1299	45	3	1256	3	ERBB4	2	212293154	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	15504781	212293154	30906219	65	27677											
FN1	2335	genome.wustl.edu	37	chr2	216248103	216248103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatttttgggagtggtGgttactctgtaaccagtaac	8	14	12	7	0	1	0	0	0	1	0	2	1	2	1	2	4	3	3	2	4	3	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:216248103G>T	ENST00000359671.1	-	30	4990	c.4725C>A	c.(4723-4725)acC>acA	p.T1575T	FN1_ENST00000357009.2_Silent_p.T1575T|FN1_ENST00000421182.1_Silent_p.T1575T|FN1_ENST00000346544.3_Silent_p.T1575T|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000443816.1_Silent_p.T1575T|FN1_ENST00000354785.4_Silent_p.T1666T|FN1_ENST00000323926.6_Silent_p.T1666T|FN1_ENST00000446046.1_Silent_p.T1575T|FN1_ENST00000356005.4_Silent_p.T1575T|FN1_ENST00000345488.5_Silent_p.T1575T|FN1_ENST00000357867.4_Silent_p.T1575T|FN1_ENST00000336916.4_Silent_p.T1575T|FN1_ENST00000432072.2_Silent_p.T1666T			P02751	FINC_HUMAN	fibronectin 1	1575	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGGGAGTGGTGGTTACTCTGT	0.483																																																	0													241	187	205					2																	216248103		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4725C>A	2.37:g.216248103G>T			B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.T1666	ENST00000359671.1	37	c.4998		2																																																																																			FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.483	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		-	0	60	0	G	NM_212476		216248103	-1	tier1	-	no_errors	ENST00000354785	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.023	T	T	216248103	G	T	216248103	2	4	97	1	0	0	0	0	0	0	0	1	5984	1335	47	3		3	FN1	2	216248103	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3954949	216248103	26951270	66	27678											
TTLL4	9654	genome.wustl.edu	37	chr2	219612870	219612870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggcaataagttcatgcaCctgaccaactacagtgtcaa	13	10	7	11	0	2	1	2	1	0	0	2	1	2	1	2	1	3	3	2	1	5	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:219612870C>A	ENST00000392102.1	+	12	2761	c.2421C>A	c.(2419-2421)caC>caA	p.H807Q	TTLL4_ENST00000442769.1_Missense_Mutation_p.H743Q|TTLL4_ENST00000457313.1_Missense_Mutation_p.H642Q|TTLL4_ENST00000258398.4_Missense_Mutation_p.H807Q	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	807	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGTTCATGCACCTGACCAACT	0.483																																					GBM(172;1818 2053 15407 20943 49753)												0													114	100	105					2																	219612870		2203	4300	6503	SO:0001583	missense	0				CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"Tubulin tyrosine ligase-like family"	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2421C>A	2.37:g.219612870C>A	ENSP00000375951:p.His807Gln		A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.H807Q	ENST00000392102.1	37	c.2421	CCDS2422.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995843	0.74703	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.81	3.06	0.35304	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.63782	-0.6559	10	0.87932	D	0	.	10.9478	0.47310	0.0:0.7952:0.0:0.2048	.	10;642;743;807	B4DJF5;E9PH58;E7EX20;Q14679	.;.;.;TTLL4_HUMAN	Q	642;807;743;807	ENSP00000393332:H642Q;ENSP00000375951:H807Q;ENSP00000396555:H743Q;ENSP00000258398:H807Q	ENSP00000258398:H807Q	H	+	3	2	TTLL4	219321114	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.221000	0.32503	0.820000	0.34516	-0.749000	0.03505	CAC	TTLL4	-	pfam_TTL/TTLL_fam	ENSG00000135912		0.483	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	-	0	36	0	C	NM_014640		219612870	1	tier1	-	no_errors	ENST00000258398	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	219612870	C	A	219612870	3	1	97	1	0	0	0	0	1	0	0	0	16778	506	18	3	2459	3	TTLL4	2	219612870	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	3364767	219612870	23586503	67	27679											
DNPEP	23549	genome.wustl.edu	37	chr2	220246836	220246836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtcagcagtgactgtGctccctgtgcactctcagac	6	11	10	14	0	3	2	2	1	2	1	5	2	4	2	1	0	3	4	1	0	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:220246836G>T	ENST00000273075.4	-	11	1182	c.962C>A	c.(961-963)gCa>gAa	p.A321E	DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000373972.1_Missense_Mutation_p.A246E|DNPEP_ENST00000523282.1_Missense_Mutation_p.A329E	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	311					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTGACTGTGCTCCCTGTGC	0.607																																																	0													47	53	51					2																	220246836		2124	4239	6363	SO:0001583	missense	0				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.962C>A	2.37:g.220246836G>T	ENSP00000273075:p.Ala321Glu		Q9BW44|Q9NUV5	Missense_Mutation	SNP	pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18	p.A321E	ENST00000273075.4	37	c.962	CCDS42823.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.446026	0.96187	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	H	0.99425	4.56	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95085	0.8217	9	0.87932	D	0	-11.2187	19.1173	0.93346	0.0:0.0:1.0:0.0	.	329;329;311;321	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	E	321;321;246;329;214;293	.	ENSP00000273075:A321E	A	-	2	0	DNPEP	219955080	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.541000	0.98083	2.746000	0.94184	0.655000	0.94253	GCA	DNPEP	-	pfam_Peptidase_M18,prints_Peptidase_M18	ENSG00000123992		0.607	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNPEP	HGNC	protein_coding	OTTHUMT00000130212.1		0	23	0	G	NM_012100		220246836	-1			no_errors	ENST00000273075	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	220246836	G	T	220246836	3	4	97	1	0	0	0	0	1	0	0	0	4693	1319	46	3	515	3	DNPEP	2	220246836	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	633966	220246836	22952537	68	27680											
SPHKAP	80309	genome.wustl.edu	37	chr2	228883255	228883255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgaattgctaagtggaGagctgctggaggattcagtg	9	12	16	4	0	1	2	1	1	0	1	1	5	1	4	0	3	3	3	0	3	2	3	rs201294750		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:228883255G>T	ENST00000392056.3	-	7	2361	c.2315C>A	c.(2314-2316)tCt>tAt	p.S772Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S772Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	772						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTAAGTGGAGAGCTGCTGGA	0.502																																																	0													207	206	207					2																	228883255		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.2315C>A	2.37:g.228883255G>T	ENSP00000375909:p.Ser772Tyr		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.S772Y	ENST00000392056.3	37	c.2315	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.769337	0.00645	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12672	2.66;2.66	5.67	0.265	0.15612	.	0.674727	0.15631	N	0.252383	T	0.07728	0.0194	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.0;0.004	T	0.29488	-1.0010	10	0.39692	T	0.17	.	5.4455	0.16533	0.0:0.2614:0.2715:0.4671	.	772;772	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	Y	772	ENSP00000375909:S772Y;ENSP00000339886:S772Y	ENSP00000339886:S772Y	S	-	2	0	SPHKAP	228591499	0.001000	0.12720	0.008000	0.14137	0.082000	0.17680	0.474000	0.22148	0.166000	0.19597	-1.085000	0.02201	TCT	SPHKAP	-	NULL	ENSG00000153820		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1		0	18	0	G	NM_030623		228883255	-1			no_errors	ENST00000392056	ensembl	human	known	74_37	missense	8.33	33	3	SNP	0.000	T	T	228883255	G	T	228883255	3	4	97	1	0	0	0	0	1	0	0	0	15095	942	33	3	2811	3	SPHKAP	2	228883255	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8636419	228883255	14316118	69	27681											
SP140L	93349	genome.wustl.edu	37	chr2	231235679	231235679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaccaagcatgtggcaaaAtgggtaaggctgcctgaggg	11	7	16	7	0	0	2	0	2	0	0	0	2	0	2	2	4	2	4	2	4	4	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:231235679A>G	ENST00000415673.2	+	6	666	c.580A>G	c.(580-582)Atg>Gtg	p.M194V	SP140L_ENST00000458341.1_Missense_Mutation_p.M107V|SP140L_ENST00000243810.6_Missense_Mutation_p.M194V|SP140L_ENST00000444636.1_Missense_Mutation_p.M194V|SP140L_ENST00000396563.4_Missense_Mutation_p.M194V	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	194						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ATGTGGCAAAATGGGTAAGGC	0.557																																																	0													77	82	80					2																	231235679		1985	4155	6140	SO:0001583	missense	0			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.580A>G	2.37:g.231235679A>G	ENSP00000397911:p.Met194Val		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.M194V	ENST00000415673.2	37	c.580	CCDS46538.1	2	.	.	.	.	.	.	.	.	.	.	A	4.093	0.015208	0.07959	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;T;D;D;T	0.84660	-1.62;-1.24;-1.62;-1.88;0.84	2.11	-0.396	0.12427	.	.	.	.	.	T	0.71367	0.3331	L	0.31752	0.955	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.003	B;B;B	0.11329	0.006;0.001;0.004	T	0.52711	-0.8539	9	0.18276	T	0.48	.	4.4205	0.11477	0.6415:0.0:0.3585:0.0	.	194;107;194	Q9H930-2;Q9H930-3;Q9H930-4	.;.;.	V	194;194;194;194;107	ENSP00000395195:M194V;ENSP00000397911:M194V;ENSP00000243810:M194V;ENSP00000379811:M194V;ENSP00000395223:M107V	ENSP00000243810:M194V	M	+	1	0	SP140L	230943923	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	0.722000	0.25925	-0.105000	0.12132	-0.736000	0.03550	ATG	SP140L	-	NULL	ENSG00000185404		0.557	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SP140L	HGNC	protein_coding	OTTHUMT00000374538.1	-	0	45	0	A	NM_138402		231235679	1	tier1	-	no_errors	ENST00000415673	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.000	G	G	231235679	A	G	231235679	3	3	97	1	0	0	0	0	1	0	0	0	15008	101	4	4	602	4	SP140L	2	231235679	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	2352424	231235679	11963694	70	27682											
HDLBP	3069	genome.wustl.edu	37	chr2	242170310	242170310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctcagtatagcatccctgGcagcttctgtgttcttttcg	5	17	8	11	1	3	0	1	0	3	0	6	0	4	0	1	1	2	5	1	1	2	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr2:242170310G>A	ENST00000391975.1	-	25	3565	c.3338C>T	c.(3337-3339)gCc>gTc	p.A1113V	HDLBP_ENST00000427183.2_Missense_Mutation_p.A1080V|HDLBP_ENST00000391976.2_Missense_Mutation_p.A1113V|HDLBP_ENST00000310931.4_Missense_Mutation_p.A1113V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1113	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AGCATCCCTGGCAGCTTCTGT	0.527																																																	0													146	122	130					2																	242170310		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"vigilin"	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3338C>T	2.37:g.242170310G>A	ENSP00000375836:p.Ala1113Val		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.A1113V	ENST00000391975.1	37	c.3338	CCDS2547.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131048	0.77549	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	5.53	5.53	0.82687	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.096999	0.64402	D	0.000001	T	0.81004	0.4733	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	0.991;1.0	D;D	0.97110	0.952;1.0	D	0.85716	0.1322	10	0.87932	D	0	-40.2784	19.5332	0.95237	0.0:0.0:1.0:0.0	.	1080;1113	E7EM71;Q00341	.;VIGLN_HUMAN	V	1113;1113;1113;1080	ENSP00000375836:A1113V;ENSP00000375837:A1113V;ENSP00000312042:A1113V;ENSP00000399139:A1080V	ENSP00000312042:A1113V	A	-	2	0	HDLBP	241818983	1.000000	0.71417	0.976000	0.42696	0.026000	0.11368	9.611000	0.98342	2.617000	0.88574	0.650000	0.86243	GCC	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000115677		0.527	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0	66	0	G	NM_203346		242170310	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	40.98	35	25	SNP	1.000	A	A	242170310	G	A	242170310	3	1	97	1	0	0	0	0	1	0	0	0	7052	1203	42	3	484	3	HDLBP	2	242170310	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10934631	242170310	1029063	71	27683											
TGFBR2	7048	genome.wustl.edu	37	chr3	30729915	30729915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatttggttccaaggtgcGggagcacccctgtgtcgaaa	8	10	12	11	2	0	0	0	0	0	0	3	2	2	1	4	3	2	2	4	3	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:30729915G>T	ENST00000295754.5	+	6	1818	c.1436G>T	c.(1435-1437)cGg>cTg	p.R479L	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R504L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.R479Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TCCAAGGTGCGGGAGCACCCC	0.507																																																	1	Substitution - Missense(1)	ovary(1)											123	116	119					3																	30729915		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1436G>T	3.37:g.30729915G>T	ENSP00000295754:p.Arg479Leu		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.R504L	ENST00000295754.5	37	c.1511	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723774	0.89298	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.92858	-3.12;-3.12	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061520	0.64402	D	0.000002	D	0.92312	0.7561	N	0.16708	0.43	0.58432	D	0.999994	D;D	0.57899	0.981;0.981	D;D	0.66497	0.944;0.944	D	0.92412	0.5938	10	0.41790	T	0.15	.	19.4941	0.95064	0.0:0.0:1.0:0.0	.	479;504	P37173;D2JYI1	TGFR2_HUMAN;.	L	479;504;309	ENSP00000295754:R479L;ENSP00000351905:R504L	ENSP00000295754:R479L	R	+	2	0	TGFBR2	30704919	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.728000	0.74769	2.682000	0.91365	0.591000	0.81541	CGG	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163513		0.507	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0	30	0	G			30729915	1			no_errors	ENST00000359013	ensembl	human	known	74_37	missense	9.68	28	3	SNP	1.000	T	T	30729915	G	T	30729915	3	4	97	1	0	0	0	0	1	0	0	0	15869	1116	39	2	1537	2	TGFBR2	3	30729915	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		30729915	167292515	72	27684											
GOLGA4	2803	genome.wustl.edu	37	chr3	37381677	37381677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatatgcaacaactgtgggGacaccttacaaaggtaagga	15	8	11	7	0	0	0	0	0	0	0	0	2	0	2	1	4	4	3	1	4	7	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:37381677G>A	ENST00000361924.2	+	20	6833	c.6459G>A	c.(6457-6459)ggG>ggA	p.G2153G	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.G2168G|RNA5SP129_ENST00000410276.1_RNA	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2153					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAACTGTGGGGACACCTTACA	0.294																																																	0													77	79	78					3																	37381677		2203	4295	6498	SO:0001819	synonymous_variant	0			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"golgin 245"	602509	"golgi autoantigen, golgin subfamily a, 4"			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6459G>A	3.37:g.37381677G>A			F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.G2153	ENST00000361924.2	37	c.6459	CCDS2666.1	3																																																																																			GOLGA4	-	NULL	ENSG00000144674		0.294	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	HGNC	protein_coding	OTTHUMT00000253339.2	-	0	40	0	G	NM_002078		37381677	1	tier1	-	no_errors	ENST00000361924	ensembl	human	known	74_37	silent	44.74	21	17	SNP	0.921	A	A	37381677	G	A	37381677	2	1	97	1	0	0	0	0	0	0	0	1	6581	1161	41	3		3	GOLGA4	3	37381677	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6651762	37381677	160640753	73	27685											
QARS	5859	genome.wustl.edu	37	chr3	49136324	49136324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacaatttacctccttGaagtcagtcctctcaatgaa	11	11	4	15	0	2	2	2	2	1	0	5	2	4	2	5	0	1	0	5	0	5	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:49136324G>T	ENST00000306125.6	-	19	2194	c.1857C>A	c.(1855-1857)ttC>ttA	p.F619L	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Missense_Mutation_p.F608L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	619					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTACCTCCTTGAAGTCAGTCC	0.517																																																	0													90	88	88					3																	49136324		2203	4300	6503	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"Aminoacyl tRNA synthetases / Class I"	9751	protein-coding gene	gene with protein product	"glutamine tRNA ligase"	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1857C>A	3.37:g.49136324G>T	ENSP00000307567:p.Phe619Leu		B4DWJ2	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth	p.F619L	ENST00000306125.6	37	c.1857	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842100	0.91197	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.31247	1.51;1.5	5.88	2.67	0.31697	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	H	0.97415	4	0.80722	D	1	P;P	0.51057	0.941;0.941	P;P	0.61070	0.883;0.883	T	0.75780	-0.3197	10	0.87932	D	0	-20.2198	11.9527	0.52964	0.2239:0.0:0.7761:0.0	.	608;619	B4DWJ2;P47897	.;SYQ_HUMAN	L	139;619;608	ENSP00000307567:F619L;ENSP00000390015:F608L	ENSP00000307567:F619L	F	-	3	2	QARS	49111328	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.802000	0.47916	0.817000	0.34445	0.561000	0.74099	TTC	QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,tigrfam_Gln-tRNA-synth	ENSG00000172053		0.517	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2		0	41	0	G	NM_005051		49136324	-1			no_errors	ENST00000306125	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	49136324	G	T	49136324	3	4	97	1	0	0	0	0	1	0	0	0	12916	1281	45	3	494	3	QARS	3	49136324	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	11754647	49136324	148886106	74	27686											
TNNC1	7134	genome.wustl.edu	37	chr3	52485526	52485526	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagctcatccaggtcgAtgtagccatcagcatttctg	8	13	8	12	1	5	0	3	0	2	0	7	1	6	0	2	1	3	3	2	1	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:52485526A>G	ENST00000232975.3	-	5	389	c.335T>C	c.(334-336)aTc>aCc	p.I112T		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	112	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of muscle contraction (GO:0006937)|regulation of muscle filament sliding speed (GO:0032972)|response to metal ion (GO:0010038)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|troponin complex (GO:0005861)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)|troponin I binding (GO:0031013)|troponin T binding (GO:0031014)			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Felodipine(DB01023)|Levosimendan(DB00922)|Trifluoperazine(DB00831)	ATCCAGGTCGATGTAGCCATC	0.602																																																	0													111	96	101					3																	52485526		2203	4300	6503	SO:0001583	missense	0				CCDS2857.1	3p21.1	2014-09-17	2005-09-12		ENSG00000114854	ENSG00000114854		"EF-hand domain containing"	11943	protein-coding gene	gene with protein product		191040	"troponin C, slow"	TNNC			Standard	NM_003280		Approved		uc003deb.3	P63316	OTTHUMG00000158572	ENST00000232975.3:c.335T>C	3.37:g.52485526A>G	ENSP00000232975:p.Ile112Thr		O14800|P02590|P04463	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom	p.I112T	ENST00000232975.3	37	c.335	CCDS2857.1	3	.	.	.	.	.	.	.	.	.	.	A	20.8	4.045367	0.75846	.	.	ENSG00000114854	ENST00000232975;ENST00000496590	T;T	0.78126	-1.15;-1.15	5.58	5.58	0.84498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	H	0.99197	4.465	0.80722	D	1	D	0.56746	0.977	D	0.87578	0.998	D	0.94452	0.7668	10	0.87932	D	0	.	10.9112	0.47110	0.8599:0.0:0.0:0.1401	.	112	P63316	TNNC1_HUMAN	T	112;68	ENSP00000232975:I112T;ENSP00000420596:I68T	ENSP00000232975:I112T	I	-	2	0	TNNC1	52460566	1.000000	0.71417	0.949000	0.38748	0.731000	0.41821	9.339000	0.96797	2.129000	0.65627	0.459000	0.35465	ATC	TNNC1	-	pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom	ENSG00000114854		0.602	TNNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC1	HGNC	protein_coding	OTTHUMT00000351371.1	-	0	15	0	A			52485526	-1	tier1	-	no_errors	ENST00000232975	ensembl	human	known	74_37	missense	40.62	19	13	SNP	0.997	G	G	52485526	A	G	52485526	3	3	97	1	0	0	0	0	1	0	0	0	16371	333	12	4	158	4	TNNC1	3	52485526	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	3349202	52485526	145536904	75	27687											
PTPRG	5793	genome.wustl.edu	37	chr3	61975456	61975456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtcttctaacaaaacctgGatgaaaaacacagggaaaac	19	6	8	8	0	2	1	0	1	2	0	2	4	2	3	1	2	4	0	1	2	7	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:61975456G>T	ENST00000474889.1	+	3	725	c.348G>T	c.(346-348)tgG>tgT	p.W116C	PTPRG_ENST00000295874.10_Missense_Mutation_p.W116C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	116	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W116Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACAAAACCTGGATGAAAAACA	0.423																																																	1	Substitution - Missense(1)	lung(1)											83	77	79					3																	61975456		2203	4300	6503	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.348G>T	3.37:g.61975456G>T	ENSP00000418112:p.Trp116Cys		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.W116C	ENST00000474889.1	37	c.348	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331480	0.60853	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66280	-0.2;-0.2	5.92	5.92	0.95590	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.136231	0.53938	D	0.000048	T	0.75982	0.3924	M	0.66939	2.045	0.80722	D	1	D;D	0.56287	0.969;0.975	P;P	0.57204	0.719;0.815	T	0.76764	-0.2839	10	0.72032	D	0.01	.	20.2995	0.98608	0.0:0.0:1.0:0.0	.	116;116	P23470-2;P23470	.;PTPRG_HUMAN	C	116	ENSP00000418112:W116C;ENSP00000295874:W116C	ENSP00000295874:W116C	W	+	3	0	PTPRG	61950496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.271000	0.43364	2.799000	0.96334	0.655000	0.94253	TGG	PTPRG	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000144724		0.423	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1		0	71	0	G	NM_002841		61975456	1			no_errors	ENST00000474889	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	61975456	G	T	61975456	3	4	97	1	0	0	0	0	1	0	0	0	12847	1183	41	3	358	3	PTPRG	3	61975456	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9489930	61975456	136046974	76	27688											
CNTN3	5067	genome.wustl.edu	37	chr3	74419075	74419075	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattccaatttcacagtcgaAcctttagctgctggaagagt	11	12	8	10	1	1	1	1	0	0	1	3	3	2	2	2	1	3	2	2	1	4	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:74419075A>C	ENST00000263665.6	-	6	753	c.726T>G	c.(724-726)ggT>ggG	p.G242G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	242	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCACAGTCGAACCTTTAGCTG	0.343																																																	0													98	100	99					3																	74419075		2203	4298	6501	SO:0001819	synonymous_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.726T>G	3.37:g.74419075A>C			B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G242	ENST00000263665.6	37	c.726	CCDS33790.1	3																																																																																			CNTN3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113805		0.343	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0	92	0	A	NM_020872		74419075	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	silent	39.53	51	34	SNP	0.955	C	C	74419075	A	C	74419075	2	2	97	1	0	0	0	0	0	0	0	1	3649	30	2	4		4	CNTN3	3	74419075	Silent	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	12443619	74419075	123603355	77	27689											
ZDHHC23	254887	genome.wustl.edu	37	chr3	113667754	113667754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatcggaatggggaaaaGaaccacgtggctacttgttt	13	10	12	6	2	0	2	0	0	0	2	1	4	0	4	1	4	2	2	1	4	6	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:113667754G>T	ENST00000330212.3	+	2	404	c.105G>T	c.(103-105)aaG>aaT	p.K35N	RP11-255E6.6_ENST00000609657.1_RNA|ZDHHC23_ENST00000498275.1_Missense_Mutation_p.K29N	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	35					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ATGGGGAAAAGAACCACGTGG	0.488																																																	0													247	219	228					3																	113667754		2203	4300	6503	SO:0001583	missense	0			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"Zinc fingers, DHHC-type"	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.105G>T	3.37:g.113667754G>T	ENSP00000330485:p.Lys35Asn		D3DN76	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.K35N	ENST00000330212.3	37	c.105	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414047	0.62511	.	.	ENSG00000184307	ENST00000330212;ENST00000498275;ENST00000491556	T;T;T	0.52295	0.67;0.68;0.75	5.38	4.51	0.55191	.	0.061972	0.64402	D	0.000006	T	0.34978	0.0916	L	0.29908	0.895	0.40053	D	0.975796	P	0.44195	0.828	B	0.36922	0.236	T	0.34428	-0.9829	10	0.72032	D	0.01	-0.0669	13.1187	0.59314	0.0793:0.0:0.9207:0.0	.	35	Q8IYP9	ZDH23_HUMAN	N	35;29;35	ENSP00000330485:K35N;ENSP00000417840:K29N;ENSP00000420292:K35N	ENSP00000330485:K35N	K	+	3	2	ZDHHC23	115150444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.497000	0.45354	1.264000	0.44198	0.591000	0.81541	AAG	ZDHHC23	-	NULL	ENSG00000184307		0.488	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	-	0	67	0	G	NM_173570		113667754	1	tier1	-	no_errors	ENST00000478793	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	113667754	G	T	113667754	3	4	97	1	0	0	0	0	1	0	0	0	17662	933	33	3	107	3	ZDHHC23	3	113667754	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	39248679	113667754	84354676	78	27690											
POLQ	10721	genome.wustl.edu	37	chr3	121230739	121230739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaattctctcttacctccaGaatagctcgtatcatgctgc	10	14	5	12	1	3	1	1	0	2	1	6	1	4	1	2	0	4	3	2	0	6	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:121230739G>T	ENST00000264233.5	-	10	1734	c.1606C>A	c.(1606-1608)Ctg>Atg	p.L536M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	536	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTTACCTCCAGAATAGCTCGT	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													108	105	106					3																	121230739		2203	4300	6503	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1606C>A	3.37:g.121230739G>T	ENSP00000264233:p.Leu536Met		O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.L536M	ENST00000264233.5	37	c.1606	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749883	0.69533	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58210	0.35	5.32	2.54	0.30619	Helicase, C-terminal (1);	0.171732	0.39020	N	0.001499	T	0.69468	0.3114	M	0.91717	3.235	0.49798	D	0.999828	P	0.51933	0.949	P	0.54759	0.76	T	0.73949	-0.3821	10	0.87932	D	0	.	9.8229	0.40894	0.2221:0.0:0.7779:0.0	.	536	O75417	DPOLQ_HUMAN	M	159;536;672	ENSP00000264233:L536M	ENSP00000264233:L536M	L	-	1	2	POLQ	122713429	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.016000	0.49607	0.608000	0.30000	0.455000	0.32223	CTG	POLQ	-	pfscan_Helicase_C	ENSG00000051341		0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1		0	39	0	G	NM_199420		121230739	-1			no_errors	ENST00000264233	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	121230739	G	T	121230739	3	4	97	1	0	0	0	0	1	0	0	0	12247	933	33	3	6250	3	POLQ	3	121230739	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7562985	121230739	76791691	79	27691											
POLQ	10721	genome.wustl.edu	37	chr3	121230840	121230840	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaggagagctatgccttttGatttctcagagttcttacaa	11	14	9	7	0	2	3	1	1	2	2	3	5	2	3	1	1	3	2	1	1	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:121230840G>C	ENST00000264233.5	-	10	1633	c.1505C>G	c.(1504-1506)tCa>tGa	p.S502*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	502	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TATGCCTTTTGATTTCTCAGA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													72	70	71					3																	121230840		2203	4299	6502	SO:0001587	stop_gained	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1505C>G	3.37:g.121230840G>C	ENSP00000264233:p.Ser502*		O95160|Q6VMB5	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S502*	ENST00000264233.5	37	c.1505	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.552818	0.98355	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.33	5.33	0.75918	.	0.643267	0.16035	N	0.232698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.0019	0.92837	0.0:0.0:1.0:0.0	.	.	.	.	X	125;502;638	.	ENSP00000264233:S502X	S	-	2	0	POLQ	122713530	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.711000	0.61881	2.463000	0.83235	0.462000	0.41574	TCA	POLQ	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000051341		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	47	0	G	NM_199420		121230840	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	nonsense	25.45	41	14	SNP	1.000	C	C	121230840	G	C	121230840	4	2	97	1	0	0	0	0	0	1	0	0	12247	1294	45	5	6351	5	POLQ	3	121230840	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	101	121230840	76791590	80	27692											
EAF2	55840	genome.wustl.edu	37	chr3	121591470	121591470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcatcatcttcaagtagtGaggatagttctagtgactca	11	14	9	7	0	6	2	4	2	2	0	6	3	6	3	0	1	0	3	0	1	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:121591470G>A	ENST00000273668.2	+	5	642	c.571G>A	c.(571-573)Gag>Aag	p.E191K	EAF2_ENST00000451944.2_Missense_Mutation_p.E191K	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	191	Necessary for transactivation activity.|Ser-rich.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTCAAGTAGTGAGGATAGTTC	0.398																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)												0													122	119	120					3																	121591470		2203	4300	6503	SO:0001583	missense	0			AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.571G>A	3.37:g.121591470G>A	ENSP00000273668:p.Glu191Lys		Q9NZ82	Missense_Mutation	SNP	pfam_Tscrpt_elong_fac_Eaf_N	p.E191K	ENST00000273668.2	37	c.571	CCDS3006.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969727	0.74246	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	4.75	3.87	0.44632	.	0.346810	0.32901	N	0.005503	T	0.46580	0.1400	M	0.73598	2.24	0.35346	D	0.786959	P	0.43094	0.799	B	0.33339	0.162	T	0.60919	-0.7167	9	0.35671	T	0.21	-6.2496	10.9801	0.47488	0.0921:0.0:0.9079:0.0	.	191	Q96CJ1	EAF2_HUMAN	K	191	.	ENSP00000273668:E191K	E	+	1	0	EAF2	123074160	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.670000	0.68088	1.221000	0.43506	0.313000	0.20887	GAG	EAF2	-	NULL	ENSG00000145088		0.398	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF2	HGNC	protein_coding	OTTHUMT00000355247.1	-	0	53	0	G	NM_018456		121591470	1	tier1	-	no_errors	ENST00000273668	ensembl	human	known	74_37	missense	45.31	35	29	SNP	1.000	A	A	121591470	G	A	121591470	3	1	97	1	0	0	0	0	1	0	0	0	4890	1291	45	3	589	3	EAF2	3	121591470	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	360630	121591470	76430960	81	27693											
ADCY5	111	genome.wustl.edu	37	chr3	123049811	123049811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccttgcttcaggcagccccGagacgcagtaataacaatcc	11	7	8	15	2	1	1	1	0	0	1	2	2	2	1	4	1	3	4	4	1	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:123049811G>A	ENST00000462833.1	-	5	2783	c.1571C>T	c.(1570-1572)tCg>tTg	p.S524L	ADCY5_ENST00000309879.5_Missense_Mutation_p.S174L|ADCY5_ENST00000491190.1_Missense_Mutation_p.S157L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	524	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGGCAGCCCCGAGACGCAGTA	0.483																																																	0													77	69	72					3																	123049811		2203	4300	6503	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1571C>T	3.37:g.123049811G>A	ENSP00000419361:p.Ser524Leu		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S524L	ENST00000462833.1	37	c.1571	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.905923	0.97087	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617;ENST00000483566	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000003	D	0.96009	0.8700	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97240	0.9890	10	0.87932	D	0	.	20.0204	0.97499	0.0:0.0:1.0:0.0	.	524;157	O95622;B3KWA8	ADCY5_HUMAN;.	L	524;157;174;83;83	ENSP00000419361:S524L;ENSP00000418537:S157L;ENSP00000308685:S174L;ENSP00000420082:S83L;ENSP00000420252:S83L	ENSP00000308685:S174L	S	-	2	0	ADCY5	124532501	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	9.869000	0.99810	2.729000	0.93468	0.650000	0.86243	TCG	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000173175		0.483	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	-	0	68	0	G	XM_171048		123049811	-1	tier1	-	no_errors	ENST00000462833	ensembl	human	known	74_37	missense	37.14	44	26	SNP	1.000	A	A	123049811	G	A	123049811	3	1	97	1	0	0	0	0	1	0	0	0	297	1059	37	1	2282	1	ADCY5	3	123049811	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1458341	123049811	74972619	82	27694											
CCDC14	64770	genome.wustl.edu	37	chr3	123667900	123667900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgatcttgcaatgaccaGttttgctctaggtctgatgt	9	16	9	7	0	3	3	0	3	3	0	3	3	3	3	1	1	2	3	1	1	3	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:123667900G>T	ENST00000488653.2	-	6	666	c.576C>A	c.(574-576)aaC>aaA	p.N192K	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_De_novo_Start_OutOfFrame|CCDC14_ENST00000433542.2_Missense_Mutation_p.N151K|CCDC14_ENST00000485727.1_De_novo_Start_OutOfFrame|CCDC14_ENST00000310351.4_Missense_Mutation_p.N32K			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	192					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCAATGACCAGTTTTGCTCTA	0.383																																																	0													127	113	118					3																	123667900		2203	4300	6503	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.576C>A	3.37:g.123667900G>T	ENSP00000420180:p.Asn192Lys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.N192K	ENST00000488653.2	37	c.576		3	.	.	.	.	.	.	.	.	.	.	G	1.553	-0.538730	0.04053	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000433542;ENST00000409697	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.32	-1.13	0.09775	.	0.463445	0.20045	N	0.100431	T	0.42743	0.1216	L	0.50333	1.59	0.09310	N	1	D;D	0.53462	0.96;0.96	P;P	0.52217	0.693;0.693	T	0.40098	-0.9581	10	0.39692	T	0.17	.	10.2787	0.43526	0.5004:0.0:0.4996:0.0	.	192;151	Q49A88;Q49A88-6	CCD14_HUMAN;.	K	192;32;151;173	ENSP00000420180:N192K;ENSP00000312031:N32K;ENSP00000395706:N151K;ENSP00000386866:N173K	ENSP00000312031:N32K	N	-	3	2	CCDC14	125150590	0.478000	0.25917	0.089000	0.20774	0.433000	0.31745	0.203000	0.17315	-0.337000	0.08426	-1.063000	0.02288	AAC	CCDC14	-	NULL	ENSG00000175455		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		-	0	45	0	G	NM_022757		123667900	-1	tier1	-	no_errors	ENST00000488653	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.008	T	T	123667900	G	T	123667900	3	4	97	1	0	0	0	0	1	0	0	0	2780	1020	36	3	2317	3	CCDC14	3	123667900	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	618089	123667900	74354530	83	27695											
COL6A5	256076	genome.wustl.edu	37	chr3	130129368	130129368	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctagttccagaggcagcagGgtaagtatttctgtggacat	10	11	12	8	0	1	1	0	0	1	1	2	2	2	2	2	3	1	5	2	3	3	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:130129368G>T	ENST00000432398.2	+	20	5156	c.4662G>T	c.(4660-4662)agG>agT	p.R1554S	COL6A5_ENST00000265379.6_Splice_Site_p.R1554S	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1554	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAGGCAGCAGGGTAAGTATTT	0.418																																																	0													91	71	77					3																	130129368		692	1591	2283	SO:0001630	splice_region_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4662+1G>T	3.37:g.130129368G>T			A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1554S	ENST00000432398.2	37	c.4662		3	.	.	.	.	.	.	.	.	.	.	G	8.448	0.852356	0.17106	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.96011	-3.88;-3.88	5.64	1.26	0.21427	.	.	.	.	.	D	0.90277	0.6959	L	0.52206	1.635	0.22066	N	0.999381	B	0.24576	0.106	B	0.26416	0.069	T	0.76340	-0.2995	9	0.09843	T	0.71	.	2.7181	0.05193	0.397:0.0:0.399:0.204	.	1554	A8TX70-2	.	S	1554	ENSP00000390895:R1554S;ENSP00000265379:R1554S	ENSP00000265379:R1554S	R	+	3	2	COL6A5	131612058	0.591000	0.26824	0.842000	0.33263	0.435000	0.31806	0.641000	0.24720	0.321000	0.23259	0.650000	0.86243	AGG	COL6A5	-	pfam_Collagen	ENSG00000172752		0.418	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	56	0	G	NM_153264	Missense_Mutation	130129368	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.556	T	T	130129368	G	T	130129368	5	4	97	1	0	0	0	0	0	0	1	0	3709	1246	43	3	4736	3	COL6A5	3	130129368	Splice_Site	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6461468	130129368	67893062	84	27696											
PPP2R3A	5523	genome.wustl.edu	37	chr3	135721287	135721287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatcagtaatatgcctaGcttacaactgactcccttct	11	13	5	12	0	2	2	1	2	1	0	3	2	3	2	2	0	4	2	2	0	5	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:135721287G>T	ENST00000264977.3	+	2	1564	c.947G>T	c.(946-948)aGc>aTc	p.S316I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	316					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATATGCCTAGCTTACAACTG	0.423																																																	0													124	117	119					3																	135721287		2203	4300	6503	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "EF-hand domain containing"	9307	protein-coding gene	gene with protein product		604944	"protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.947G>T	3.37:g.135721287G>T	ENSP00000264977:p.Ser316Ile		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.S316I	ENST00000264977.3	37	c.947	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	G	6.280	0.419768	0.11928	.	.	ENSG00000073711	ENST00000264977	T	0.14144	2.53	5.34	-1.75	0.08031	.	0.351278	0.33938	N	0.004416	T	0.08802	0.0218	L	0.38175	1.15	0.09310	N	1	B	0.34103	0.437	B	0.33042	0.157	T	0.20207	-1.0282	10	0.87932	D	0	.	6.2871	0.21039	0.3128:0.2306:0.4566:0.0	.	316	Q06190	P2R3A_HUMAN	I	316	ENSP00000264977:S316I	ENSP00000264977:S316I	S	+	2	0	PPP2R3A	137203977	0.322000	0.24634	0.973000	0.42090	0.051000	0.14879	0.801000	0.27055	-0.023000	0.13963	-0.136000	0.14681	AGC	PPP2R3A	-	NULL	ENSG00000073711		0.423	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	-	0	73	0	G	NM_002718		135721287	1	tier1	-	no_errors	ENST00000264977	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.003	T	T	135721287	G	T	135721287	3	4	97	1	0	0	0	0	1	0	0	0	12430	971	34	3	949	3	PPP2R3A	3	135721287	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5591919	135721287	62301143	85	27697											
EIF2A	83939	genome.wustl.edu	37	chr3	150301678	150301678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctccaggagctggaaGatttggaattgggtatttaa	10	13	11	7	0	1	1	0	0	1	1	2	4	1	4	2	4	1	2	2	4	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:150301678G>T	ENST00000460851.1	+	14	1847	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	SERP1_ENST00000479209.1_Intron|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000482471.1_3'UTR|EIF2A_ENST00000406576.3_Missense_Mutation_p.D519Y|EIF2A_ENST00000383043.3_Missense_Mutation_p.D366Y|EIF2A_ENST00000487799.1_Missense_Mutation_p.D555Y|EIF2A_ENST00000273435.5_Missense_Mutation_p.D575Y			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	580					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAGCTGGAAGATTTGGAATT	0.348																																																	0													57	57	57					3																	150301678		1811	4082	5893	SO:0001583	missense	0			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1738G>T	3.37:g.150301678G>T	ENSP00000417229:p.Asp580Tyr		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	pfam_TIF_beta_prop-like,pirsf_TIF2A	p.D580Y	ENST00000460851.1	37	c.1738	CCDS46935.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.46|15.46	2.839936|2.839936	0.51057|0.51057	.|.	.|.	ENSG00000144895|ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043|ENST00000465535	T;T;T;T;T|.	0.45276|.	1.48;1.48;1.48;1.49;0.9|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.056048|.	0.64402|.	D|.	0.000002|.	T|T	0.71434|0.71434	0.3339|0.3339	M|M	0.72894|0.72894	2.215|2.215	0.54753|0.54753	D|D	0.999985|0.999985	P;D;B|.	0.57257|.	0.57;0.979;0.002|.	B;B;B|.	0.43536|.	0.319;0.423;0.003|.	T|T	0.71324|0.71324	-0.4627|-0.4627	10|5	0.62326|.	D|.	0.03|.	-14.7998|-14.7998	11.5499|11.5499	0.50715|0.50715	0.083:0.0:0.917:0.0|0.083:0.0:0.917:0.0	.|.	519;555;580|.	B4DF96;B4DQ14;Q9BY44|.	.;.;EIF2A_HUMAN|.	Y|N	555;580;519;575;366|310	ENSP00000420537:D555Y;ENSP00000417229:D580Y;ENSP00000385292:D519Y;ENSP00000273435:D575Y;ENSP00000372513:D366Y|.	ENSP00000273435:D575Y|.	D|K	+|+	1|3	0|2	EIF2A|EIF2A	151784368|151784368	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.045000|3.045000	0.49838|0.49838	2.559000|2.559000	0.86315|0.86315	0.591000|0.591000	0.81541|0.81541	GAT|AAG	EIF2A	-	pirsf_TIF2A	ENSG00000144895		0.348	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	-	0	56	0	G	NM_032025		150301678	1	tier1	-	no_errors	ENST00000460851	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	150301678	G	T	150301678	3	4	97	1	0	0	0	0	1	0	0	0	5009	942	33	3	1792	3	EIF2A	3	150301678	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	14580391	150301678	47720752	86	27698											
PLCH1	23007	genome.wustl.edu	37	chr3	155200038	155200038	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgttcgttgcatgtttGgtggtctcagaactcgagag	7	14	13	7	2	1	2	1	0	1	2	4	3	1	2	0	2	2	4	0	2	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr3:155200038G>T	ENST00000340059.7	-	23	3800	c.3801C>A	c.(3799-3801)acC>acA	p.T1267T	PLCH1_ENST00000414191.1_Silent_p.T1229T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1229T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Silent_p.T1229T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1267					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGCATGTTTGGTGGTCTCAG	0.458																																																	0													158	156	157					3																	155200038		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"EF-hand domain containing"	29185	protein-coding gene	gene with protein product		612835	"phospholipase C-like 3"	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3801C>A	3.37:g.155200038G>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.T1267	ENST00000340059.7	37	c.3801	CCDS46939.1	3																																																																																			PLCH1	-	NULL	ENSG00000114805		0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	-	0	40	0	G	NM_014996		155200038	-1	tier1	-	no_errors	ENST00000340059	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.129	T	T	155200038	G	T	155200038	2	4	97	1	0	0	0	0	0	0	0	1	12076	1335	47	3		3	PLCH1	3	155200038	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4898360	155200038	42822392	87	27699											
NOP14	8602	genome.wustl.edu	37	chr4	2945897	2945897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacaaagccacatactccagGaacaggcagcacacgaacag	17	2	9	13	1	0	0	0	0	0	0	1	3	1	1	2	2	5	2	2	2	4	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:2945897G>T	ENST00000314262.6	-	13	1842	c.1794C>A	c.(1792-1794)ttC>ttA	p.F598L	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.F598L|NOP14_ENST00000507120.1_5'Flank|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.F598L|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.F598L	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	598					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CATACTCCAGGAACAGGCAGC	0.498																																																	0													86	78	81					4																	2945897		2203	4300	6503	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"NOP14 homolog (S. cerevisiae)"	611526	"chromosome 4 open reading frame 9", "nucleolar protein 14", "nucleolar protein 14 homolog (yeast)", "NOP14 nucleolar protein homolog (yeast)"	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1794C>A	4.37:g.2945897G>T	ENSP00000315674:p.Phe598Leu		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.F598L	ENST00000314262.6	37	c.1794	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717349	0.30413	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	5.47	2.54	0.30619	.	0.276491	0.36234	N	0.002720	T	0.22360	0.0539	L	0.33624	1.015	0.30536	N	0.76691	P;P;P	0.36086	0.465;0.476;0.536	B;B;B	0.42245	0.381;0.1;0.134	T	0.13899	-1.0492	10	0.87932	D	0	-25.383	8.3009	0.32014	0.324:0.0:0.676:0.0	.	391;598;598	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	L	598;598;598;598;497	ENSP00000405068:F598L;ENSP00000315674:F598L;ENSP00000427415:F598L;ENSP00000381146:F598L	ENSP00000315674:F598L	F	-	3	2	NOP14	2915695	0.998000	0.40836	0.996000	0.52242	0.988000	0.76386	0.431000	0.21444	0.559000	0.29153	0.561000	0.74099	TTC	NOP14	-	pfam_Nop14	ENSG00000087269		0.498	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0	44	0	G	NM_003703		2945897	-1	tier1	-	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.998	T	T	2945897	G	T	2945897	3	4	97	1	0	0	0	0	1	0	0	0	10575	1165	41	3	803	3	NOP14	4	2945897	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		2945897	188208379	88	27700											
TMEM128	85013	genome.wustl.edu	37	chr4	4242077	4242077	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaataaaggaggcagtGgtaatgggtatcaaggctgg	12	8	16	5	0	1	0	1	0	0	0	1	1	1	1	0	6	1	6	0	6	6	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:4242077G>T	ENST00000382753.4	-	3	378	c.369C>A	c.(367-369)acC>acA	p.T123T	TMEM128_ENST00000254742.2_Silent_p.T99T|TMEM128_ENST00000540397.1_Silent_p.T123T|TMEM128_ENST00000538516.1_Silent_p.T123T			Q5BJH2	TM128_HUMAN	transmembrane protein 128	123						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AGGAGGCAGTGGTAATGGGTA	0.348																																																	0													120	99	106					4																	4242077		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.369C>A	4.37:g.4242077G>T			B4DHS7|D3DVS3|Q5H9U6|Q96I94	Silent	SNP	NULL	p.T123	ENST00000382753.4	37	c.369		4																																																																																			TMEM128	-	NULL	ENSG00000132406		0.348	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	TMEM128	HGNC	protein_coding	OTTHUMT00000246798.2	-	0	54	0	G	NM_032927		4242077	-1	tier1	-	no_errors	ENST00000382753	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.959	T	T	4242077	G	T	4242077	2	4	97	1	0	0	0	0	0	0	0	1	16088	1335	47	3		3	TMEM128	4	4242077	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1296180	4242077	186912199	89	27701											
CNGA1	1259	genome.wustl.edu	37	chr4	47954661	47954661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctggtacaatcacattggGcatggttacaaaagactgct	13	11	9	8	0	2	1	1	0	1	1	2	1	2	1	0	3	3	4	0	3	5	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:47954661G>A	ENST00000514170.1	-	4	377	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	CNGA1_ENST00000544810.1_Missense_Mutation_p.P20S|CNGA1_ENST00000358519.4_Missense_Mutation_p.P20S|CNGA1_ENST00000420489.2_Missense_Mutation_p.P20S|CNGA1_ENST00000402813.3_Missense_Mutation_p.P89S			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	20					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						ATCACATTGGGCATGGTTACA	0.338																																																	0													132	123	126					4																	47954661		1847	4088	5935	SO:0001583	missense	0			M84741	CCDS43226.1, CCDS47050.1	4p12	2013-02-14				ENSG00000198515		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2148	protein-coding gene	gene with protein product		123825		CNCG1, CNCG		7683629, 16382102	Standard	NM_000087		Approved	RCNC1, RCNCa, CNG1, RP49	uc003gxu.3	P29973		ENST00000514170.1:c.58C>T	4.37:g.47954661G>A	ENSP00000426862:p.Pro20Ser		A8K7K6|J3KPZ2|Q16279|Q16485|Q4W5E3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P89S	ENST00000514170.1	37	c.265	CCDS43226.1	4	.	.	.	.	.	.	.	.	.	.	G	14.59	2.579988	0.46006	.	.	ENSG00000198515	ENST00000402813;ENST00000514170;ENST00000544810;ENST00000358519;ENST00000420489;ENST00000504722;ENST00000514520;ENST00000513178	T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	5.1	4.25	0.50352	.	0.093954	0.46145	D	0.000305	T	0.25680	0.0625	M	0.63843	1.955	0.33815	D	0.628335	P;P	0.37061	0.58;0.58	B;B	0.35114	0.196;0.196	T	0.39781	-0.9597	10	0.27082	T	0.32	.	12.4168	0.55498	0.0:0.0:0.8316:0.1684	.	20;20	Q4W5E3;P29973	.;CNGA1_HUMAN	S	89;20;20;20;20;20;20;20	ENSP00000384264:P89S;ENSP00000426862:P20S;ENSP00000443401:P20S;ENSP00000351320:P20S;ENSP00000389881:P20S;ENSP00000423721:P20S;ENSP00000421110:P20S;ENSP00000423327:P20S	ENSP00000351320:P20S	P	-	1	0	CNGA1	47649418	0.998000	0.40836	0.896000	0.35187	0.294000	0.27393	3.469000	0.53093	1.495000	0.48549	-0.324000	0.08512	CCC	CNGA1	-	NULL	ENSG00000198515		0.338	CNGA1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNGA1	HGNC	protein_coding	OTTHUMT00000372070.2	-	0	59	0	G	NM_000087		47954661	-1	tier1	-	no_errors	ENST00000402813	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.957	A	A	47954661	G	A	47954661	3	1	97	1	0	0	0	0	1	0	0	0	3603	1203	42	3	2046	3	CNGA1	4	47954661	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	43712584	47954661	143199615	90	27702											
EPHA5	2044	genome.wustl.edu	37	chr4	66467471	66467471	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaggttcatcggtcacAgaatggttgacacaggagcc	10	9	14	8	1	2	2	2	1	0	1	3	4	2	4	1	5	1	2	1	5	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:66467471A>G	ENST00000273854.3	-	3	1398	c.798T>C	c.(796-798)tcT>tcC	p.S266S	EPHA5_ENST00000432638.2_Silent_p.S266S|EPHA5_ENST00000511294.1_Silent_p.S266S|EPHA5_ENST00000354839.4_Silent_p.S266S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	266	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATCGGTCACAGAATGGTTGA	0.532										TSP Lung(17;0.13)																																							0													80	75	77					4																	66467471		2203	4300	6503	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.798T>C	4.37:g.66467471A>G			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S266	ENST00000273854.3	37	c.798	CCDS3513.1	4																																																																																			EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0	30	0	A	NM_004439		66467471	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	silent	60.61	13	20	SNP	0.035	G	G	66467471	A	G	66467471	2	3	97	1	0	0	0	0	0	0	0	1	5186	175	7	4		4	EPHA5	4	66467471	Silent	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	18512810	66467471	124686805	91	27703											
SEC31A	22872	genome.wustl.edu	37	chr4	83772725	83772725	+	Frame_Shift_Del	DEL	T	T	-																															gcttgagtgagttgcacagcTtttcgcaggatgacaacttt																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:83772725delT	ENST00000395310.2	-	19	2369	c.2187delA	c.(2185-2187)aaafs	p.K729fs	SEC31A_ENST00000508479.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.K724fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.K729fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.K690fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.K462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.K729fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	729					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTGCACAGCTTTTCGCAGGA	0.423																																																	0													100	86	91					4																	83772725		2203	4300	6503	SO:0001589	frameshift_variant	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2187delA	4.37:g.83772725delT	ENSP00000378721:p.Lys729fs		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A730fs	ENST00000395310.2	37	c.2187	CCDS3596.1	4																																																																																			SEC31A	-	NULL	ENSG00000138674		0.423	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1		0	27	0	T	NM_016211		83772725	-1	tier1		no_errors	ENST00000432794	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.780	-	-	83772725	T	-	83772725	7	5	97	1	0	1	0	1	0	0	0	0	14043	1606	56	0	1511	0	SEC31A	4	83772725	Frame_Shift_Del	DEL	T	TCGA-L7-A6VZ-01A-12D-A33E-09	17305254	83772725	107381551	92	27704											
SLC10A6	345274	genome.wustl.edu	37	chr4	87769968	87769968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagcagcccatgatgaGaacagcaatagcttggactg	12	6	13	10	1	0	2	0	2	0	1	0	4	0	3	1	2	5	4	1	2	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:87769968G>T	ENST00000273905.6	-	1	448	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	101					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCCATGATGAGAACAGCAATA	0.512																																																	0													69	71	70					4																	87769968		2203	4300	6503	SO:0001583	missense	0			AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"Solute carriers"	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.301C>A	4.37:g.87769968G>T	ENSP00000273905:p.Leu101Ile		Q70EX7	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.L101I	ENST00000273905.6	37	c.301	CCDS3614.1	4	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826282	0.71143	.	.	ENSG00000145283	ENST00000273905	T	0.06687	3.27	5.85	5.85	0.93711	.	0.095566	0.42682	D	0.000669	T	0.13628	0.0330	L	0.39692	1.235	0.35117	D	0.76665	P	0.50617	0.937	P	0.55577	0.779	T	0.15983	-1.0418	10	0.18710	T	0.47	-6.65	11.0038	0.47622	0.084:0.0:0.916:0.0	.	101	Q3KNW5	SOAT_HUMAN	I	101	ENSP00000273905:L101I	ENSP00000273905:L101I	L	-	1	0	SLC10A6	87988992	1.000000	0.71417	0.968000	0.41197	0.879000	0.50718	1.936000	0.40183	2.768000	0.95171	0.655000	0.94253	CTC	SLC10A6	-	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	ENSG00000145283		0.512	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A6	HGNC	protein_coding	OTTHUMT00000253043.2	-	0	40	0	G	NM_197965		87769968	-1	tier1	-	no_errors	ENST00000273905	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T	T	87769968	G	T	87769968	3	4	97	1	0	0	0	0	1	0	0	0	14423	942	33	3	856	3	SLC10A6	4	87769968	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3997243	87769968	103384308	93	27705											
HERC3	8916	genome.wustl.edu	37	chr4	89576391	89576391	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgactccatgaatgatGaggttaaccctagaagagtt	14	9	10	8	1	0	5	0	3	0	2	1	7	1	5	2	1	1	2	2	1	4	3	rs370030897		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:89576391G>T	ENST00000402738.1	+	8	1083	c.844G>T	c.(844-846)Gag>Tag	p.E282*	HERC3_ENST00000264345.3_Nonsense_Mutation_p.E282*|HERC3_ENST00000407637.1_Nonsense_Mutation_p.E282*	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	282					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CATGAATGATGAGGTTAACCC	0.463																																																	0													250	224	233					4																	89576391		2203	4300	6503	SO:0001587	stop_gained	0			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.844G>T	4.37:g.89576391G>T	ENSP00000385684:p.Glu282*		A8K1S5|Q8IXX3	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E282*	ENST00000402738.1	37	c.844	CCDS34028.1	4	.	.	.	.	.	.	.	.	.	.	G	38	7.160817	0.98103	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.0221	0.92919	0.0:0.0:1.0:0.0	.	.	.	.	X	282	.	ENSP00000264345:E282X	E	+	1	0	HERC3	89795414	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	9.645000	0.98471	2.732000	0.93576	0.655000	0.94253	GAG	HERC3	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000138641		0.463	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2		0	112	0	G	NM_014606		89576391	1			no_errors	ENST00000264345	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	89576391	G	T	89576391	4	4	97	1	0	0	0	0	0	1	0	0	7086	1291	45	3	866	3	HERC3	4	89576391	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1806423	89576391	101577885	94	27706											
C4orf21	55345	genome.wustl.edu	37	chr4	113505224	113505224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcacttaaaaccatgccaGgtcgagctccttcctgtgtt	9	13	7	12	1	1	0	1	0	0	0	4	1	3	0	4	1	3	2	4	1	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:113505224G>T	ENST00000505019.1	-	15	4333	c.4208C>A	c.(4207-4209)cCt>cAt	p.P1403H		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1403						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AACCATGCCAGGTCGAGCTCC	0.383																																																	0													96	95	95					4																	113505224		2203	4300	6503	SO:0001583	missense	0																														ENST00000505019.1:c.4208C>A	4.37:g.113505224G>T	ENSP00000424737:p.Pro1403His		B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase	p.P1403H	ENST00000505019.1	37	c.4208		4	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048551	0.36181	.	.	ENSG00000138658	ENST00000505019	D	0.83163	-1.69	5.95	5.11	0.69529	.	3.680890	0.00649	N	0.000540	D	0.91825	0.7413	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	D	0.64595	0.927	T	0.76903	-0.2787	10	0.72032	D	0.01	-6.0271	16.5367	0.84374	0.0:0.0:0.8682:0.1318	.	1403	G5EA02	.	H	1403	ENSP00000424737:P1403H	ENSP00000404365:P301H	P	-	2	0	C4orf21	113724673	0.973000	0.33851	0.002000	0.10522	0.177000	0.22998	3.935000	0.56560	1.510000	0.48803	-0.188000	0.12872	CCT	C4orf21	-	NULL	ENSG00000138658		0.383	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	C4orf21	HGNC	protein_coding	OTTHUMT00000256413.1	-	0	42	0	G			113505224	-1	tier1	-	no_errors	ENST00000505019	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.068	T	T	113505224	G	T	113505224	3	4	97	1	0	0	0	0	1	0	0	0	2261	1000	35	3	2162	3	C4orf21	4	113505224	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	23928833	113505224	77649052	95	27707											
ADAM29	11086	genome.wustl.edu	37	chr4	175896934	175896934	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcacctacacagaccaGggtgctatccttgaggacca	10	9	10	12	0	1	2	1	1	0	1	2	3	2	3	4	2	2	2	4	2	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:175896934G>C	ENST00000359240.3	+	5	928	c.258G>C	c.(256-258)caG>caC	p.Q86H	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q86H|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q86H|ADAM29_ENST00000445694.1_Missense_Mutation_p.Q86H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	86					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACAGACCAGGGTGCTATCC	0.473																																					Ovarian(140;1727 1835 21805 25838 41440)												0													48	48	48					4																	175896934		2203	4300	6503	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.258G>C	4.37:g.175896934G>C	ENSP00000352177:p.Gln86His		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Q86H	ENST00000359240.3	37	c.258	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	G	14.08	2.430126	0.43122	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000404450;ENST00000514159	T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35	3.77	-1.16	0.09678	Peptidase M12B, propeptide (1);	0.606157	0.12714	U	0.445253	T	0.18923	0.0454	M	0.81239	2.535	0.23669	N	0.997158	D	0.89917	1.0	D	0.85130	0.997	T	0.07654	-1.0761	9	.	.	.	.	3.5078	0.07698	0.4164:0.0:0.4086:0.175	.	86	Q9UKF5	ADA29_HUMAN	H	86	ENSP00000352177:Q86H;ENSP00000414544:Q86H;ENSP00000427674:Q86H;ENSP00000384229:Q86H;ENSP00000423517:Q86H	.	Q	+	3	2	ADAM29	176133509	0.000000	0.05858	0.873000	0.34254	0.618000	0.37518	-0.805000	0.04530	-0.303000	0.08856	-0.156000	0.13503	CAG	ADAM29	-	pfam_Peptidase_M12B_N	ENSG00000168594		0.473	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding			0	41	0	G			175896934	1			no_errors	ENST00000359240	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.888	C	C	175896934	G	C	175896934	3	2	97	1	0	0	0	0	1	0	0	0	247	991	35	5	260	5	ADAM29	4	175896934	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	62391710	175896934	15257342	96	27708											
ADAM29	11086	genome.wustl.edu	37	chr4	175897651	175897651	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaacaaaactttgggcacTttttcaattgcagtggctca	12	13	8	8	0	2	1	2	1	0	0	2	1	2	1	0	2	3	3	0	2	4	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:175897651T>G	ENST00000359240.3	+	5	1645	c.975T>G	c.(973-975)acT>acG	p.T325T	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Silent_p.T325T|ADAM29_ENST00000514159.1_Silent_p.T325T|ADAM29_ENST00000445694.1_Silent_p.T325T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	325	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTTTGGGCACTTTTTCAATTG	0.403																																					Ovarian(140;1727 1835 21805 25838 41440)												0													154	153	153					4																	175897651		2203	4300	6503	SO:0001819	synonymous_variant	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.975T>G	4.37:g.175897651T>G			Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T325	ENST00000359240.3	37	c.975	CCDS3823.1	4																																																																																			ADAM29	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168594		0.403	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		-	0	37	0	T			175897651	1	tier1	-	no_errors	ENST00000359240	ensembl	human	known	74_37	silent	72.00	7	18	SNP	0.000	G	G	175897651	T	G	175897651	2	3	97	1	0	0	0	0	0	0	0	1	247	1596	56	4		4	ADAM29	4	175897651	Silent	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	717	175897651	15256625	97	27709											
LRP2BP	55805	genome.wustl.edu	37	chr4	186295346	186295346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgagcatactttgagcCttcacactagctttgggatt	9	12	9	11	1	1	1	1	1	0	0	1	3	1	2	2	1	5	2	2	1	2	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr4:186295346C>A	ENST00000328559.7	-	5	1333	c.522G>T	c.(520-522)aaG>aaT	p.K174N	LRP2BP_ENST00000510776.1_Missense_Mutation_p.K148N|LRP2BP_ENST00000505916.1_Missense_Mutation_p.K174N|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Missense_Mutation_p.K176N	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	174						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TACTTTGAGCCTTCACACTAG	0.413																																																	0													162	154	157					4																	186295346		2203	4300	6503	SO:0001583	missense	0			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.522G>T	4.37:g.186295346C>A	ENSP00000332681:p.Lys174Asn		A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	pfam_Sel1-like,pfam_TPR_2,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K176N	ENST00000328559.7	37	c.528	CCDS3840.1	4	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988654	0.53934	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.2	2.49	0.30216	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	M	0.61703	1.905	0.54753	D	0.999988	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	T	0.57057	-0.7876	10	0.09590	T	0.72	-20.7757	11.1728	0.48582	0.0:0.7874:0.0:0.2126	.	148;174	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	N	176;174;148;174	ENSP00000354846:K176N;ENSP00000332681:K174N;ENSP00000424610:K148N;ENSP00000426203:K174N	ENSP00000332681:K174N	K	-	3	2	LRP2BP	186532340	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	1.992000	0.40737	0.687000	0.31509	0.563000	0.77884	AAG	LRP2BP	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000109771		0.413	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRP2BP	HGNC	protein_coding	OTTHUMT00000360679.2	-	0	67	0	C	NM_018409		186295346	-1	tier1	-	no_errors	ENST00000362004	ensembl	human	known	74_37	missense	60.78	20	31	SNP	1.000	A	A	186295346	C	A	186295346	3	1	97	1	0	0	0	0	1	0	0	0	8992	680	24	3	537	3	LRP2BP	4	186295346	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	10397695	186295346	4858930	98	27710											
SLC6A18	348932	genome.wustl.edu	37	chr5	1244805	1244805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagggtggtcagtcccctgCtgctgaccatctttgtggct	4	12	14	11	0	2	1	1	1	1	0	3	2	3	2	3	4	2	3	3	4	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:1244805C>T	ENST00000324642.3	+	11	1702	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	527					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGTCCCCTGCTGCTGACCAT	0.597																																																	0													67	66	66					5																	1244805		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1579C>T	5.37:g.1244805C>T				Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.L527	ENST00000324642.3	37	c.1579	CCDS3860.1	5																																																																																			SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000164363		0.597	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	-	0	37	0	C	NM_182632		1244805	1	tier1	-	no_errors	ENST00000324642	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.956	T	T	1244805	C	T	1244805	2	4	97	1	0	0	0	0	0	0	0	1	14726	796	28	3		3	SLC6A18	5	1244805	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09		1244805	179670455	99	27711											
DNAH5	1767	genome.wustl.edu	37	chr5	13810212	13810212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggtgtccccgggccccGctggcggcggcagctccagc	3	4	17	17	5	0	0	0	0	0	0	2	0	2	0	5	6	2	3	5	6	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:13810212G>A	ENST00000265104.4	-	45	7669	c.7565C>T	c.(7564-7566)gCg>gTg	p.A2522V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2522					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGGGCCCCGCTGGCGGCGG	0.721									Kartagener syndrome																																								0													8	9	9					5																	13810212		2080	4118	6198	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7565C>T	5.37:g.13810212G>A	ENSP00000265104:p.Ala2522Val		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2522V	ENST00000265104.4	37	c.7565	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	13.12	2.142160	0.37825	.	.	ENSG00000039139	ENST00000265104	T	0.24538	1.85	4.96	-9.5	0.00584	.	1.592250	0.03359	N	0.197267	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14008	-1.0488	10	0.30078	T	0.28	.	6.1398	0.20253	0.0582:0.2908:0.1874:0.4636	.	2522	Q8TE73	DYH5_HUMAN	V	2522	ENSP00000265104:A2522V	ENSP00000265104:A2522V	A	-	2	0	DNAH5	13863212	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.772000	0.26647	-1.705000	0.01406	-0.397000	0.06425	GCG	DNAH5	-	NULL	ENSG00000039139		0.721	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	49	0	G	NM_001369		13810212	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.000	A	A	13810212	G	A	13810212	3	1	97	1	0	0	0	0	1	0	0	0	4618	1087	38	1	6449	1	DNAH5	5	13810212	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	12565407	13810212	167105048	100	27712											
C5orf34	375444	genome.wustl.edu	37	chr5	43492873	43492873	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttagggttagagtaatGccatctaaaaagatagcatg	16	11	9	5	0	1	2	0	0	1	2	1	2	1	2	1	1	2	3	1	1	8	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:43492873G>T	ENST00000306862.2	-	9	1809	c.1434C>A	c.(1432-1434)ggC>ggA	p.G478G	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	478										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTAGAGTAATGCCATCTAAAA	0.378																																																	0													84	86	85					5																	43492873		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1434C>A	5.37:g.43492873G>T				Silent	SNP	NULL	p.G478	ENST00000306862.2	37	c.1434	CCDS3946.1	5																																																																																			C5orf34	-	NULL	ENSG00000172244		0.378	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	-	0	72	0	G	NM_198566		43492873	-1	tier1	-	no_errors	ENST00000306862	ensembl	human	known	74_37	silent	5.00	76	4	SNP	0.476	T	T	43492873	G	T	43492873	2	4	97	1	0	0	0	0	0	0	0	1	2300	1306	46	3		3	C5orf34	5	43492873	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	29682661	43492873	137422387	101	27713											
FLJ37543	285668	genome.wustl.edu	37	chr5	60999816	60999816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaatgttagctgactgtGttctaaaatccactccaatt	11	15	5	10	0	2	1	1	1	2	0	5	1	4	1	2	0	1	3	2	0	5	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:60999816G>T	ENST00000505642.1	+	4	424	c.349G>T	c.(349-351)Gtt>Ttt	p.V117F	C5orf64_ENST00000313303.7_Missense_Mutation_p.V117F|C5orf64_ENST00000510414.1_3'UTR	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	117						extracellular region (GO:0005576)				breast(1)	1						AGCTGACTGTGTTCTAAAATC	0.453																																																	0													99	96	97					5																	60999816		1956	4147	6103	SO:0001583	missense	0				CCDS54860.1	5q12.1	2014-02-12	2011-05-05		ENSG00000178722	ENSG00000178722			26744	protein-coding gene	gene with protein product							Standard	NM_173667		Approved	FLJ37543	uc003jst.1	Q2M2E5	OTTHUMG00000162412	ENST00000505642.1:c.349G>T	5.37:g.60999816G>T	ENSP00000423157:p.Val117Phe		Q2M2H1|Q8N1U8	Missense_Mutation	SNP	NULL	p.V117F	ENST00000505642.1	37	c.349	CCDS54860.1	5	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057394	0.07317	.	.	ENSG00000178722	ENST00000505642;ENST00000313303	T;T	0.39406	1.08;1.08	3.94	1.52	0.23074	.	0.882830	0.09210	N	0.833362	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25222	-1.0138	10	0.87932	D	0	1.3725	8.2918	0.31963	0.0:0.0:0.4313:0.5687	.	117	Q2M2E5	CE064_HUMAN	F	117	ENSP00000423157:V117F;ENSP00000318395:V117F	ENSP00000318395:V117F	V	+	1	0	C5orf64	61035573	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-0.002000	0.12924	0.329000	0.23460	-0.262000	0.10625	GTT	C5orf64	-	NULL	ENSG00000178722		0.453	C5orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf64	HGNC	protein_coding	OTTHUMT00000368790.1	-	0	72	0	G	NM_173667		60999816	1	tier1	-	no_errors	ENST00000313303	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.016	T	T	60999816	G	T	60999816	3	4	97	1	0	0	0	0	1	0	0	0	5951	1377	48	3	359	3	FLJ37543	5	60999816	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	17506943	60999816	119915444	102	27714											
ERBB2IP	55914	genome.wustl.edu	37	chr5	65349238	65349238	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatctttattttaggcaaGaagatgaaaattttaacagc	16	15	6	4	0	1	3	0	1	1	2	1	3	1	3	0	1	2	1	0	1	8	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:65349238G>T	ENST00000284037.5	+	21	2481	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000511297.1_Nonsense_Mutation_p.E694*|ERBB2IP_ENST00000506030.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380938.2_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000508515.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380943.2_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380935.1_Nonsense_Mutation_p.E698*|ERBB2IP_ENST00000380939.2_Nonsense_Mutation_p.E698*	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	698					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TTTTAGGCAAGAAGATGAAAA	0.264																																																	0													37	45	43					5																	65349238		2160	4264	6424	SO:0001587	stop_gained	0				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"densin-180-like protein", "ERBB2-interacting protein"	606944	"erbb2-interacting protein"			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.2092G>T	5.37:g.65349238G>T	ENSP00000284037:p.Glu698*		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E698*	ENST00000284037.5	37	c.2092	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	38	7.194467	0.98129	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	18.7416	0.91775	0.0:0.0:1.0:0.0	.	.	.	.	X	698;698;698;698;698;698;694;698;698	.	ENSP00000284037:E698X	E	+	1	0	ERBB2IP	65384994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.720000	0.74723	2.491000	0.84063	0.591000	0.81541	GAA	ERBB2IP	-	NULL	ENSG00000112851		0.264	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1		0	79	0	G	NM_018695		65349238	1			no_errors	ENST00000284037	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	65349238	G	T	65349238	4	4	97	1	0	0	0	0	0	1	0	0	5223	943	33	3	2166	3	ERBB2IP	5	65349238	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4349422	65349238	115566022	103	27715											
CRHBP	1393	genome.wustl.edu	37	chr5	76264603	76264603	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgcatggtctccagtGgaaaacacgtaaatcgtgtg	10	10	13	8	3	1	0	0	0	1	0	3	1	1	1	1	3	2	2	1	3	4	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:76264603G>T	ENST00000274368.4	+	7	1284	c.862G>T	c.(862-864)Gga>Tga	p.G288*	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	288					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGTCTCCAGTGGAAAACACGT	0.463																																																	0													142	128	132					5																	76264603		2203	4300	6503	SO:0001587	stop_gained	0			X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"corticotropin releasing hormone-binding protein"			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.862G>T	5.37:g.76264603G>T	ENSP00000274368:p.Gly288*		Q53F32|Q6FHT5	Nonsense_Mutation	SNP	pfam_CRF-bd,superfamily_CUB_dom,pirsf_CRF-bd	p.G288*	ENST00000274368.4	37	c.862	CCDS4034.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.726831	0.98931	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.2852	19.4769	0.94992	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000274368:G288X	G	+	1	0	CRHBP	76300359	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	9.355000	0.97087	2.668000	0.90789	0.655000	0.94253	GGA	CRHBP	-	pfam_CRF-bd,pirsf_CRF-bd	ENSG00000145708		0.463	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHBP	HGNC	protein_coding	OTTHUMT00000219972.2	-	0	67	0	G	NM_001882		76264603	1	tier1	-	no_errors	ENST00000274368	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	1.000	T	T	76264603	G	T	76264603	4	4	97	1	0	0	0	0	0	1	0	0	3877	1349	47	3	888	3	CRHBP	5	76264603	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10915365	76264603	104650657	104	27716											
AGGF1	55109	genome.wustl.edu	37	chr5	76331536	76331536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacagaaaatgttaaatatAgacaagtggaccattttgcc	17	10	8	6	0	0	2	0	0	0	2	0	4	0	3	2	1	2	1	2	1	8	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:76331536A>G	ENST00000312916.7	+	3	866	c.484A>G	c.(484-486)Aga>Gga	p.R162G	AGGF1_ENST00000506806.1_Missense_Mutation_p.R162G|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	162					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TGTTAAATATAGACAAGTGGA	0.343																																																	0													84	84	84					5																	76331536		2203	4300	6503	SO:0001583	missense	0			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"G patch domain containing"	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.484A>G	5.37:g.76331536A>G	ENSP00000316109:p.Arg162Gly		O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.R162G	ENST00000312916.7	37	c.484	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	A	9.009	0.981952	0.18812	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.75938	1.33;-0.98	5.96	1.69	0.24217	.	0.721305	0.13911	N	0.354227	T	0.51244	0.1663	N	0.10874	0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30149	-0.9988	10	0.20046	T	0.44	-11.606	8.4298	0.32750	0.4618:0.0:0.5382:0.0	.	162;162	Q8N302;Q8N302-3	AGGF1_HUMAN;.	G	162	ENSP00000316109:R162G;ENSP00000424733:R162G	ENSP00000316109:R162G	R	+	1	2	AGGF1	76367292	0.215000	0.23574	0.000000	0.03702	0.639000	0.38242	1.142000	0.31540	0.014000	0.14944	0.528000	0.53228	AGA	AGGF1	-	NULL	ENSG00000164252		0.343	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2		0	63	0	A	NM_018046		76331536	1			no_errors	ENST00000312916	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.000	G	G	76331536	A	G	76331536	3	3	97	1	0	0	0	0	1	0	0	0	382	412	15	4	494	4	AGGF1	5	76331536	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	66933	76331536	104583724	105	27717											
BHMT2	23743	genome.wustl.edu	37	chr5	78378654	78378654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgagcacgttgaagaagCtgtgtgggctgtggaagtct	8	13	15	5	1	1	3	0	2	1	1	1	4	1	4	0	2	2	4	0	2	3	3	rs553174622		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:78378654C>A	ENST00000255192.3	+	5	539	c.473C>A	c.(472-474)gCt>gAt	p.A158D	BHMT2_ENST00000521567.1_Missense_Mutation_p.A94D|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	158	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GTTGAAGAAGCTGTGTGGGCT	0.418																																																	0													150	148	149					5																	78378654		2203	4300	6503	SO:0001583	missense	0				CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.473C>A	5.37:g.78378654C>A	ENSP00000255192:p.Ala158Asp		B7Z516|Q9NXX7	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.A158D	ENST00000255192.3	37	c.473	CCDS4045.1	5	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028698	0.93518	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.15487	2.42;2.42	5.19	5.19	0.71726	Homocysteine S-methyltransferase (4);	0.100050	0.64402	D	0.000002	T	0.47691	0.1459	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;0.984	D;D	0.79784	0.993;0.93	T	0.53279	-0.8461	10	0.66056	D	0.02	-3.5261	18.6887	0.91574	0.0:1.0:0.0:0.0	.	94;158	B7Z516;Q9H2M3	.;BHMT2_HUMAN	D	158;94	ENSP00000255192:A158D;ENSP00000430278:A94D	ENSP00000255192:A158D	A	+	2	0	BHMT2	78414410	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.468000	0.80943	2.416000	0.81992	0.655000	0.94253	GCT	BHMT2	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	ENSG00000132840		0.418	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT2	HGNC	protein_coding	OTTHUMT00000226962.2	-	0	63	0	C	NM_017614		78378654	1	tier1	-	no_errors	ENST00000255192	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	A	A	78378654	C	A	78378654	3	1	97	1	0	0	0	0	1	0	0	0	1428	797	28	3	491	3	BHMT2	5	78378654	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2047118	78378654	102536606	106	27718											
SPZ1	84654	genome.wustl.edu	37	chr5	79617017	79617017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgctagagaatgaatGccaaatcttacagcagagag	15	9	10	7	0	1	3	0	1	1	2	1	5	1	3	1	0	5	3	1	0	5	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:79617017G>T	ENST00000296739.4	+	1	1228	c.983G>T	c.(982-984)tGc>tTc	p.C328F		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	328					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GAGAATGAATGCCAAATCTTA	0.433																																																	0													122	116	118					5																	79617017		1906	4131	6037	SO:0001583	missense	0				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 148"					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.983G>T	5.37:g.79617017G>T	ENSP00000369611:p.Cys328Phe		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	NULL	p.C328F	ENST00000296739.4	37	c.983	CCDS43336.1	5	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213087	0.39102	.	.	ENSG00000164299	ENST00000296739	T	0.37411	1.2	4.5	3.63	0.41609	.	0.000000	0.53938	D	0.000052	T	0.46054	0.1373	L	0.55213	1.73	0.31918	N	0.613869	D	0.63880	0.993	D	0.63113	0.911	T	0.48625	-0.9019	10	0.13853	T	0.58	-6.6701	10.747	0.46187	0.0934:0.0:0.9066:0.0	.	328	Q9BXG8	SPZ1_HUMAN	F	328	ENSP00000369611:C328F	ENSP00000369611:C328F	C	+	2	0	SPZ1	79652773	1.000000	0.71417	0.969000	0.41365	0.313000	0.28021	3.887000	0.56197	1.499000	0.48617	0.557000	0.71058	TGC	SPZ1	-	NULL	ENSG00000164299		0.433	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPZ1	HGNC	protein_coding	OTTHUMT00000369322.1	-	0	21	0	G	NM_032567		79617017	1	tier1	-	no_errors	ENST00000296739	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.955	T	T	79617017	G	T	79617017	3	4	97	1	0	0	0	0	1	0	0	0	15174	1319	46	3	985	3	SPZ1	5	79617017	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1238363	79617017	101298243	107	27719											
ZCCHC9	84240	genome.wustl.edu	37	chr5	80604424	80604424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcatggaattgcagattgCcccgccgcccttgaaaatca	10	9	10	12	2	2	2	2	1	0	1	2	3	2	3	4	2	2	1	4	2	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:80604424C>T	ENST00000254037.2	+	2	3584	c.429C>T	c.(427-429)tgC>tgT	p.C143C	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.C143C|ZCCHC9_ENST00000407610.3_Silent_p.C143C|ZCCHC9_ENST00000438268.2_Silent_p.C143C			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	143					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TTGCAGATTGCCCCGCCGCCC	0.463																																																	0													88	89	89					5																	80604424		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"Zinc fingers, CCHC domain containing", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25424	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 41"					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.429C>T	5.37:g.80604424C>T			B2RAE7|Q9H027	Silent	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.C143	ENST00000254037.2	37	c.429	CCDS4054.1	5																																																																																			ZCCHC9	-	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	ENSG00000131732		0.463	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZCCHC9	HGNC	protein_coding	OTTHUMT00000239213.1	-	0	82	0	C	NM_032280		80604424	1	tier1	-	no_errors	ENST00000254037	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T	T	80604424	C	T	80604424	2	4	97	1	0	0	0	0	0	0	0	1	17643	747	26	3		3	ZCCHC9	5	80604424	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	987407	80604424	100310836	108	27720											
VCAN	1462	genome.wustl.edu	37	chr5	82833726	82833726	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctctcagggagttcttCgattccaattacagaaggct	11	11	10	9	1	2	2	1	0	2	2	5	4	3	3	1	2	2	3	1	2	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:82833726C>A	ENST00000265077.3	+	8	5469	c.4904C>A	c.(4903-4905)tCg>tAg	p.S1635*	VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S648*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1635	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGGAGTTCTTCGATTCCAATT	0.423																																																	0													51	52	52					5																	82833726		2203	4300	6503	SO:0001587	stop_gained	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4904C>A	5.37:g.82833726C>A	ENSP00000265077:p.Ser1635*		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.S1635*	ENST00000265077.3	37	c.4904	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.769937	0.99601	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	5.54	3.43	0.39272	.	0.277119	0.26163	N	0.025970	.	.	.	.	.	.	0.43693	D	0.996146	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5585	0.50764	0.0:0.8365:0.0:0.1635	.	.	.	.	X	1635;648;648	.	ENSP00000265077:S1635X	S	+	2	0	VCAN	82869482	0.086000	0.21541	0.184000	0.23157	0.015000	0.08874	0.733000	0.26087	1.350000	0.45770	0.655000	0.94253	TCG	VCAN	-	NULL	ENSG00000038427		0.423	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0	46	0	C	NM_004385		82833726	1			no_errors	ENST00000265077	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	0.549	A	A	82833726	C	A	82833726	4	1	97	1	0	0	0	0	0	1	0	0	17187	893	31	2	4930	2	VCAN	5	82833726	Nonsense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2229302	82833726	98081534	109	27721											
CCDC112	153733	genome.wustl.edu	37	chr5	114604588	114604589	+	Frame_Shift_Ins	INS	-	-	T																															tctttcttacctatgtgggaINStatgtagaagtggcccagag																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:114604588_114604589insT	ENST00000512261.1	-	10	1704_1705	c.1288_1289insA	c.(1288-1290)atcfs	p.I430fs	CCDC112_ENST00000379611.5_Frame_Shift_Ins_p.I513fs|CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.I430fs|CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.I398fs			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	430										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CCTATGTGGGATATGTAGAAGT	0.356																																																	0																																										SO:0001589	frameshift_variant	0			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.1289dupA	5.37:g.114604589_114604589dupT	ENSP00000423712:p.Ile430fs		Q6A334	Frame_Shift_Ins	INS	superfamily_Homeodomain-like	p.I513fs	ENST00000512261.1	37	c.1538_1537	CCDS4117.1	5																																																																																			CCDC112	-	NULL	ENSG00000164221		0.356	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1		0	43	0	-	NM_152549		114604589	-1	tier1		no_errors	ENST00000379611	ensembl	human	known	74_37	frame_shift_ins	17.95	32	7	INS	0.998:0.996	T	T	114604589	-	T	114604588	7	5	97	1	0	1	1	0	0	0	0	0	2756	333	12	0	59	0	CCDC112	5	114604588	Frame_Shift_Ins	INS	-	TCGA-L7-A6VZ-01A-12D-A33E-09	31770862	114604588	66310672	110	27722											
MEGF10	84466	genome.wustl.edu	37	chr5	126769130	126769130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctgctactgtaaaaatgGggcttcatgctcccctgatg	8	11	10	12	0	1	1	1	1	0	0	2	1	2	1	3	2	3	4	3	2	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:126769130G>T	ENST00000274473.6	+	15	2036	c.1769G>T	c.(1768-1770)gGg>gTg	p.G590V	MEGF10_ENST00000503335.2_Missense_Mutation_p.G590V	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	590	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTAAAAATGGGGCTTCATGC	0.552																																																	0													121	117	118					5																	126769130		2203	4300	6503	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1769G>T	5.37:g.126769130G>T	ENSP00000274473:p.Gly590Val		Q68DE5|Q8WUL3	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.G590V	ENST00000274473.6	37	c.1769	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.253534	0.95336	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.72394	-0.65;-0.65	6.17	6.17	0.99709	EGF-like, laminin (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.069460	0.56097	D	0.000028	D	0.90246	0.6950	H	0.95917	3.74	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.91942	0.5564	10	0.87932	D	0	-13.305	20.8794	0.99867	0.0:0.0:1.0:0.0	.	590	Q96KG7	MEG10_HUMAN	V	590	ENSP00000423354:G590V;ENSP00000274473:G590V	ENSP00000274473:G590V	G	+	2	0	MEGF10	126797029	1.000000	0.71417	0.999000	0.59377	0.926000	0.56050	9.823000	0.99369	2.941000	0.99782	0.655000	0.94253	GGG	MEGF10	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000145794		0.552	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	-	0	35	0	G	NM_032446		126769130	1	tier1	-	no_errors	ENST00000274473	ensembl	human	known	74_37	missense	53.49	20	23	SNP	1.000	T	T	126769130	G	T	126769130	3	4	97	1	0	0	0	0	1	0	0	0	9498	1232	43	3	1819	3	MEGF10	5	126769130	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	12164542	126769130	54146130	111	27723											
RAD50	10111	genome.wustl.edu	37	chr5	131972884	131972884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcgaagtacctatcGtggacaaggtgagtaccatg	10	9	13	9	2	0	1	0	1	0	0	1	3	0	2	3	3	2	2	3	3	5	3	rs587780156		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:131972884G>A	ENST00000265335.6	+	22	3854	c.3467G>A	c.(3466-3468)cGt>cAt	p.R1156H	AC004041.2_ENST00000435042.1_RNA|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000457489.1_RNA|AC004041.2_ENST00000417516.1_RNA|RAD50_ENST00000378823.3_Missense_Mutation_p.R1017H			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1156					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTACCTATCGTGGACAAGGT	0.433								Homologous recombination																																									0													230	239	236					5																	131972884		2203	4300	6503	SO:0001583	missense	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"RAD50 (S. cerevisiae) homolog"			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3467G>A	5.37:g.131972884G>A	ENSP00000265335:p.Arg1156His		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.R1156H	ENST00000265335.6	37	c.3467	CCDS34233.1	5	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756414	0.89843	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.03607	3.87;3.87	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.00013	-1.2420	10	0.66056	D	0.02	-9.3997	20.2447	0.98397	0.0:0.0:1.0:0.0	.	1156	Q92878	RAD50_HUMAN	H	1017;1156	ENSP00000368100:R1017H;ENSP00000265335:R1156H	ENSP00000265335:R1156H	R	+	2	0	RAD50	132000783	1.000000	0.71417	0.987000	0.45799	0.410000	0.31052	7.643000	0.83403	2.790000	0.95986	0.609000	0.83330	CGT	RAD50	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes	ENSG00000113522		0.433	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	-	0	81	0	G	NM_005732		131972884	1	tier1	-	no_errors	ENST00000265335	ensembl	human	known	74_37	missense	7.61	85	7	SNP	1.000	A	A	131972884	G	A	131972884	3	1	97	1	0	0	0	0	1	0	0	0	13029	1145	40	1	3553	1	RAD50	5	131972884	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5203754	131972884	48942376	112	27724											
PCDHGA5	56110	genome.wustl.edu	37	chr5	140746060	140746060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgaggcgctggcacaaGtcacgcctgcttcaggctga	9	7	13	12	2	2	3	2	2	0	1	2	3	2	3	1	3	1	4	1	3	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:140746060G>A	ENST00000518069.1	+	1	2163	c.2163G>A	c.(2161-2163)aaG>aaA	p.K721K	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	721					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCACAAGTCACGCCTGC	0.617																																																	0													107	119	115					5																	140746060		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2163G>A	5.37:g.140746060G>A			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K721	ENST00000518069.1	37	c.2163	CCDS54925.1	5																																																																																			PCDHGA5	-	NULL	ENSG00000253485		0.617	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0	66	0	G	NM_018918		140746060	1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	silent	54.72	24	29	SNP	0.000	A	A	140746060	G	A	140746060	2	1	97	1	0	0	0	0	0	0	0	1	11596	1020	36	3		3	PCDHGA5	5	140746060	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8773176	140746060	40169200	113	27725											
CSF1R	1436	genome.wustl.edu	37	chr5	149447857	149447857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcgaccaccactggtGtgaagaggaactcatccggg	10	6	14	11	2	1	2	1	1	0	1	2	4	2	3	3	4	2	1	3	4	2	0	rs201012043		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:149447857G>T	ENST00000286301.3	-	11	1838	c.1547C>A	c.(1546-1548)aCa>aAa	p.T516K	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	516					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CACCACTGGTGTGAAGAGGAA	0.617																																																	0													103	90	95					5																	149447857		2203	4300	6503	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1547C>A	5.37:g.149447857G>T	ENSP00000286301:p.Thr516Lys		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.T516K	ENST00000286301.3	37	c.1547	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282450	0.40394	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.79033	-1.23	4.1	3.23	0.37069	.	0.116424	0.38436	N	0.001682	D	0.82314	0.5010	M	0.72353	2.195	0.80722	D	1	D;P	0.63046	0.992;0.741	P;B	0.59221	0.854;0.178	T	0.82520	-0.0416	10	0.66056	D	0.02	.	7.7612	0.28953	0.1118:0.0:0.8882:0.0	.	368;516	B4E2Y8;P07333	.;CSF1R_HUMAN	K	516;368	ENSP00000286301:T516K	ENSP00000286301:T516K	T	-	2	0	CSF1R	149428050	0.996000	0.38824	0.856000	0.33681	0.249000	0.25844	3.817000	0.55668	1.306000	0.44926	0.561000	0.74099	ACA	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.617	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0	38	0	G	NM_005211		149447857	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.857	T	T	149447857	G	T	149447857	3	4	97	1	0	0	0	0	1	0	0	0	3941	1377	48	3	1419	3	CSF1R	5	149447857	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8701797	149447857	31467403	114	27726											
CSF1R	1436	genome.wustl.edu	37	chr5	149453043	149453043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctcagagctcaagttCaagtaggcactctctggaaa	11	11	9	10	0	5	1	3	0	2	1	6	2	5	2	0	2	2	5	0	2	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:149453043C>A	ENST00000286301.3	-	7	1194	c.903G>T	c.(901-903)ttG>ttT	p.L301F	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	301	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)	p.L301F(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGCTCAAGTTCAAGTAGGCAC	0.507																																																	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)											103	94	97					5																	149453043		2203	4300	6503	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.903G>T	5.37:g.149453043C>A	ENSP00000286301:p.Leu301Phe		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L301F	ENST00000286301.3	37	c.903	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	9.021	0.984775	0.18889	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.78246	-1.16	4.81	3.93	0.45458	Immunoglobulin-like fold (1);	0.865376	0.09569	N	0.784385	T	0.74435	0.3716	L	0.57536	1.79	0.80722	D	1	B;P	0.48230	0.382;0.907	B;B	0.41988	0.133;0.372	T	0.71073	-0.4698	10	0.87932	D	0	.	8.2202	0.31537	0.0:0.8859:0.0:0.1141	.	153;301	B4E2Y8;P07333	.;CSF1R_HUMAN	F	301;153	ENSP00000286301:L301F	ENSP00000286301:L301F	L	-	3	2	CSF1R	149433236	1.000000	0.71417	0.997000	0.53966	0.054000	0.15201	2.100000	0.41777	0.996000	0.38943	0.655000	0.94253	TTG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000182578		0.507	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2		0	41	0	C	NM_005211		149453043	-1			no_errors	ENST00000286301	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.998	A	A	149453043	C	A	149453043	3	1	97	1	0	0	0	0	1	0	0	0	3941	825	29	3	2079	3	CSF1R	5	149453043	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	5186	149453043	31462217	115	27727											
PDGFRB	5159	genome.wustl.edu	37	chr5	149502666	149502666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcgctgggcgggcggcGcttgtcggagtggtgctgca	2	8	19	12	6	0	0	0	0	0	0	2	1	1	1	1	5	2	4	1	5	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:149502666G>T	ENST00000261799.4	-	15	2591	c.2122C>A	c.(2122-2124)Cgc>Agc	p.R708S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCGGGCGGCGCTTGTCGGAG	0.612			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																			Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0													113	105	108					5																	149502666		2203	4300	6503	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2122C>A	5.37:g.149502666G>T	ENSP00000261799:p.Arg708Ser		B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R708S	ENST00000261799.4	37	c.2122	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	6.516	0.463337	0.12402	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75050	-0.9	3.41	2.52	0.30459	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.488214	0.17076	N	0.187992	T	0.54303	0.1850	N	0.25286	0.73	0.27577	N	0.949714	B;B	0.19331	0.003;0.035	B;B	0.18561	0.022;0.017	T	0.35351	-0.9792	10	0.09084	T	0.74	.	8.666	0.34121	0.0:0.2351:0.7649:0.0	.	708;708	A8KAM8;P09619	.;PGFRB_HUMAN	S	708;378	ENSP00000261799:R708S	ENSP00000261799:R708S	R	-	1	0	PDGFRB	149482859	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	2.397000	0.44477	0.978000	0.38470	0.462000	0.41574	CGC	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113721		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	-	0	59	0	G	NM_002609		149502666	-1	tier1	-	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	149502666	G	T	149502666	3	4	97	1	0	0	0	0	1	0	0	0	11701	1087	38	2	1234	2	PDGFRB	5	149502666	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	49623	149502666	31412594	116	27728											
GRIA1	2890	genome.wustl.edu	37	chr5	153026596	153026596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccacgtctgcttcattaCgccgagctttcccgttgata	6	13	7	15	4	2	1	1	1	1	0	4	2	4	1	4	0	3	3	4	0	2	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:153026596C>T	ENST00000285900.5	+	3	672	c.329C>T	c.(328-330)aCg>aTg	p.T110M	GRIA1_ENST00000521843.2_Missense_Mutation_p.T41M|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Missense_Mutation_p.T110M|GRIA1_ENST00000448073.4_Missense_Mutation_p.T120M|GRIA1_ENST00000518783.1_Missense_Mutation_p.T120M|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	110					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.T110M(3)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGCTTCATTACGCCGAGCTTT	0.502																																																	3	Substitution - Missense(3)	endometrium(2)|large_intestine(1)											170	154	160					5																	153026596		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.329C>T	5.37:g.153026596C>T	ENSP00000285900:p.Thr110Met		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T120M	ENST00000285900.5	37	c.359	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669632	0.88348	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.55	5.55	0.83447	Extracellular ligand-binding receptor (1);	0.047603	0.85682	D	0.000000	D	0.92100	0.7496	M	0.73217	2.22	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.981	D	0.92611	0.6099	10	0.87932	D	0	.	18.489	0.90839	0.0:1.0:0.0:0.0	.	120;120;120;110;110	E7ESV8;B7Z9G9;B7Z2W8;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	M	110;110;64;110;41;41;120;120	ENSP00000285900:T110M;ENSP00000339343:T110M;ENSP00000427864:T41M;ENSP00000442108:T41M;ENSP00000428994:T120M;ENSP00000415569:T120M	ENSP00000285900:T110M	T	+	2	0	GRIA1	153006789	1.000000	0.71417	0.359000	0.25824	0.866000	0.49608	7.581000	0.82535	2.612000	0.88384	0.655000	0.94253	ACG	GRIA1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000155511		0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0	66	0	C			153026596	1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	missense	58.33	20	28	SNP	1.000	T	T	153026596	C	T	153026596	3	4	97	1	0	0	0	0	1	0	0	0	6794	536	19	1	339	1	GRIA1	5	153026596	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	3523930	153026596	27888664	117	27729											
GABRA6	2559	genome.wustl.edu	37	chr5	161113276	161113276	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcgaagttgaaggcaacTtctactcagaaaacgtcagt	15	9	8	9	2	3	2	2	1	1	1	4	3	3	2	0	1	4	2	0	1	7	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:161113276T>G	ENST00000274545.5	+	2	512	c.79T>G	c.(79-81)Ttc>Gtc	p.F27V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Missense_Mutation_p.F27V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	27					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAGGCAACTTCTACTCAGA	0.478										TCGA Ovarian(5;0.080)																																							0													100	100	100					5																	161113276		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.79T>G	5.37:g.161113276T>G	ENSP00000274545:p.Phe27Val		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.F27V	ENST00000274545.5	37	c.79	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	T	8.267	0.812507	0.16537	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.79653	-1.29;-0.53	5.3	0.662	0.17880	.	0.576311	0.19120	N	0.122212	T	0.57198	0.2037	N	0.08118	0	0.32168	N	0.582058	B	0.02656	0.0	B	0.04013	0.001	T	0.48822	-0.9001	10	0.27082	T	0.32	.	6.6582	0.22998	0.0:0.6185:0.1871:0.1944	.	27	Q16445	GBRA6_HUMAN	V	27	ENSP00000274545:F27V;ENSP00000430527:F27V	ENSP00000274545:F27V	F	+	1	0	GABRA6	161045854	0.266000	0.24112	0.582000	0.28627	0.093000	0.18481	0.759000	0.26461	-0.107000	0.12088	-0.274000	0.10170	TTC	GABRA6	-	prints_GABBAa6_rcpt,tigrfam_Neur_channel	ENSG00000145863		0.478	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0	36	0	T			161113276	1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.990	G	G	161113276	T	G	161113276	3	3	97	1	0	0	0	0	1	0	0	0	6189	1609	56	4	85	4	GABRA6	5	161113276	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	8086680	161113276	19801984	118	27730											
GABRA6	2559	genome.wustl.edu	37	chr5	161116331	161116331	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcatgcttgtccactcaAgtttgggagctgtaagttac	8	13	12	8	0	1	0	1	0	0	0	2	1	2	1	1	2	3	6	1	2	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:161116331A>C	ENST00000274545.5	+	5	951	c.518A>C	c.(517-519)aAg>aCg	p.K173T	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.K163T			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	173					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.K173T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGTCCACTCAAGTTTGGGAGC	0.393										TCGA Ovarian(5;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)											123	110	114					5																	161116331		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4080	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 6"	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.518A>C	5.37:g.161116331A>C	ENSP00000274545:p.Lys173Thr		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.K173T	ENST00000274545.5	37	c.518	CCDS4356.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.1|21.1	4.105012|4.105012	0.77096|0.77096	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60843|0.60843	0.2300|0.2300	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.57341|0.57341	-0.7828|-0.7828	10|5	0.87932|.	D|.	0|.	.|.	16.0395|16.0395	0.80654|0.80654	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	173|.	Q16445|.	GBRA6_HUMAN|.	T|R	173;163;120;68|113	ENSP00000274545:K173T;ENSP00000430527:K163T;ENSP00000430212:K120T;ENSP00000427989:K68T|.	ENSP00000274545:K173T|.	K|S	+|+	2|1	0|0	GABRA6|GABRA6	161048909|161048909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.228000|9.228000	0.95250|0.95250	2.188000|2.188000	0.69820|0.69820	0.533000|0.533000	0.62120|0.62120	AAG|AGT	GABRA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000145863		0.393	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0	77	0	A			161116331	1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	22.06	53	15	SNP	1.000	C	C	161116331	A	C	161116331	3	2	97	1	0	0	0	0	1	0	0	0	6189	72	3	4	536	4	GABRA6	5	161116331	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	3055	161116331	19798929	119	27731											
CCDC99	54908	genome.wustl.edu	37	chr5	169015514	169015514	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatggtttacaactagtaGagagtcaaaatgaattacag	17	11	9	4	0	1	2	1	1	0	1	1	3	1	2	0	1	3	3	0	1	9	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:169015514G>T	ENST00000265295.4	+	2	373	c.94G>T	c.(94-96)Gag>Tag	p.E32*	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ACAACTAGTAGAGAGTCAAAA	0.408																																																	0													105	100	102					5																	169015514		2203	4300	6503	SO:0001587	stop_gained	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"spindly homolog (Drosophila)"		"coiled-coil domain containing 99"	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.94G>T	5.37:g.169015514G>T	ENSP00000265295:p.Glu32*			Nonsense_Mutation	SNP	NULL	p.E32*	ENST00000265295.4	37	c.94	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635686	0.67130	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	.	.	.	5.51	4.62	0.57501	.	0.098565	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-20.2094	16.525	0.84328	0.0:0.1311:0.8689:0.0	.	.	.	.	X	32	.	ENSP00000265295:E32X	E	+	1	0	CCDC99	168948092	1.000000	0.71417	0.891000	0.34965	0.036000	0.12997	5.949000	0.70257	1.428000	0.47296	0.655000	0.94253	GAG	SPDL1	-	NULL	ENSG00000040275		0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2		0	42	0	G	NM_017785		169015514	1			no_errors	ENST00000265295	ensembl	human	known	74_37	nonsense	8.57	32	3	SNP	1.000	T	T	169015514	G	T	169015514	4	4	97	1	0	0	0	0	0	1	0	0	2883	943	33	3	96	3	CCDC99	5	169015514	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7899183	169015514	11899746	120	27732											
DOCK2	1794	genome.wustl.edu	37	chr5	169186770	169186770	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatggtctttgatgcgaAgttactcaggtgagagctca	12	11	12	6	1	3	3	2	2	1	2	3	5	3	3	0	2	3	2	0	2	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:169186770A>C	ENST00000256935.8	+	24	2518	c.2438A>C	c.(2437-2439)aAg>aCg	p.K813T	DOCK2_ENST00000520908.1_Missense_Mutation_p.K305T|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	813					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.K813T(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGATGCGAAGTTACTCAGG	0.478																																																	1	Substitution - Missense(1)	endometrium(1)											246	224	232					5																	169186770		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2438A>C	5.37:g.169186770A>C	ENSP00000256935:p.Lys813Thr		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K813T	ENST00000256935.8	37	c.2438	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972033	0.34754	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.68765	-0.35;-0.35;2.32	5.2	5.2	0.72013	.	0.045535	0.85682	D	0.000000	T	0.59128	0.2171	L	0.61218	1.895	0.80722	D	1	P;D	0.53619	0.89;0.961	B;B	0.42798	0.343;0.398	T	0.58160	-0.7685	10	0.20519	T	0.43	.	6.8414	0.23965	0.8305:0.0:0.1695:0.0	.	305;813	E7ERW7;Q92608	.;DOCK2_HUMAN	T	813;194;305;17	ENSP00000256935:K813T;ENSP00000429283:K305T;ENSP00000428841:K17T	ENSP00000256935:K813T	K	+	2	0	DOCK2	169119348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.158000	0.58150	2.096000	0.63516	0.533000	0.62120	AAG	DOCK2	-	superfamily_ARM-type_fold	ENSG00000134516		0.478	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	53	0	A	NM_004946		169186770	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	56.90	25	33	SNP	1.000	C	C	169186770	A	C	169186770	3	2	97	1	0	0	0	0	1	0	0	0	4701	72	3	4	2532	4	DOCK2	5	169186770	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	171256	169186770	11728490	121	27733											
FAM193B	54540	genome.wustl.edu	37	chr5	176950989	176950989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacctctcggtcagtctCatccatctccaccccgtcca	6	10	4	21	2	4	0	2	0	3	0	10	0	7	0	7	1	0	0	7	1	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:176950989C>T	ENST00000514747.1	-	7	2389	c.2341G>A	c.(2341-2343)Gag>Aag	p.E781K	FAM193B_ENST00000329540.5_Missense_Mutation_p.E407K|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Missense_Mutation_p.E748K	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	861						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						CGGTCAGTCTCATCCATCTCC	0.587																																																	0													228	253	245					5																	176950989		2135	4232	6367	SO:0001583	missense	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.2341G>A	5.37:g.176950989C>T	ENSP00000422131:p.Glu781Lys		E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.E748K	ENST00000514747.1	37	c.2242	CCDS54954.1	5	.	.	.	.	.	.	.	.	.	.	C	16.66	3.186338	0.57909	.	.	ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540	T;T;T	0.53857	0.6;0.6;0.6	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72203	0.3431	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.995	T	0.73325	-0.4018	10	0.72032	D	0.01	-25.6272	19.7243	0.96157	0.0:1.0:0.0:0.0	.	781;407;748	E9PET5;E7ER81;E9PEZ8	.;.;.	K	781;748;407	ENSP00000422131:E781K;ENSP00000410098:E748K;ENSP00000332014:E407K	ENSP00000332014:E407K	E	-	1	0	FAM193B	176883595	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.665000	0.90641	0.650000	0.86243	GAG	FAM193B	-	NULL	ENSG00000146067		0.587	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	-	0	47	0	C	NM_019057		176950989	-1	tier1	-	no_errors	ENST00000443375	ensembl	human	known	74_37	missense	61.36	17	27	SNP	1.000	T	T	176950989	C	T	176950989	3	4	97	1	0	0	0	0	1	0	0	0	5544	835	29	3	135	3	FAM193B	5	176950989	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	7764219	176950989	3964271	122	27734											
GFPT2	9945	genome.wustl.edu	37	chr5	179751188	179751188	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagaaggctcagttacCttgcatcagaagcaaagaag	17	6	11	7	0	2	4	2	0	0	4	2	5	2	4	1	1	3	4	1	1	6	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr5:179751188C>A	ENST00000253778.8	-	9	963	c.794G>T	c.(793-795)aGc>aTc	p.S265I	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	265	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GCTCAGTTACCTTGCATCAGA	0.483																																																	0													83	88	86					5																	179751188		2075	4217	6292	SO:0001630	splice_region_variant	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"glutamine: fructose-6-phosphate aminotransferase 2"	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.794+1G>T	5.37:g.179751188C>A			Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.S265I	ENST00000253778.8	37	c.794	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478219	0.84747	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.76448	0.84;-1.02	5.56	5.56	0.83823	Glutamine amidotransferase, type II (1);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	M	0.82433	2.59	0.80722	D	1	D	0.62365	0.991	P	0.58820	0.846	D	0.88015	0.2765	9	.	.	.	-25.1061	19.5349	0.95247	0.0:1.0:0.0:0.0	.	265	O94808	GFPT2_HUMAN	I	265;167	ENSP00000253778:S265I;ENSP00000431125:S167I	.	S	-	2	0	GFPT2	179683794	1.000000	0.71417	0.991000	0.47740	0.681000	0.39784	7.679000	0.84048	2.618000	0.88619	0.561000	0.74099	AGC	GFPT2	-	tigrfam_GlmS_trans	ENSG00000131459		0.483	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	-	0	41	0	C	NM_005110	Missense_Mutation	179751188	-1	tier1	-	no_errors	ENST00000253778	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	179751188	C	A	179751188	5	1	97	1	0	0	0	0	0	0	1	0	6372	695	24	3	1298	3	GFPT2	5	179751188	Splice_Site	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2800199	179751188	1164072	123	27735											
IRF4	3662	genome.wustl.edu	37	chr6	394896	394896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctggaagacgcgcctgCggtgcgctttgaacaagagc	9	6	13	13	4	0	3	0	1	0	2	0	4	0	4	3	2	4	1	3	2	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:394896C>T	ENST00000380956.4	+	3	418	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	98					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GACGCGCCTGCGGTGCGCTTT	0.542			T	IGH@	MM																																			Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													89	94	92					6																	394896		2203	4300	6503	SO:0001583	missense	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.292C>T	6.37:g.394896C>T	ENSP00000370343:p.Arg98Trp		Q5VUI7|Q99660	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.R98W	ENST00000380956.4	37	c.292	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657012	0.47467	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.98617	-5.03	5.81	3.95	0.45737	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.049999	0.85682	D	0.000000	D	0.99275	0.9747	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99035	1.0822	10	0.87932	D	0	-16.3511	14.6661	0.68910	0.4209:0.5791:0.0:0.0	.	98;98;98	F2Z3D5;Q15306-2;Q15306	.;.;IRF4_HUMAN	W	98;128	ENSP00000370343:R98W	ENSP00000370343:R98W	R	+	1	2	IRF4	339896	0.947000	0.32204	0.015000	0.15790	0.009000	0.06853	1.835000	0.39181	0.711000	0.32018	-0.284000	0.09977	CGG	IRF4	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	ENSG00000137265		0.542	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	-	0	71	0	C			394896	1	tier1	-	no_errors	ENST00000380956	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.988	T	T	394896	C	T	394896	3	4	97	1	0	0	0	0	1	0	0	0	7859	759	27	1	298	1	IRF4	6	394896	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09		394896	170720171	124	27736											
ZNF193	7746	genome.wustl.edu	37	chr6	28200505	28200505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggataggatagagaggcagtGgggaaacctcttaggagagg	13	6	18	4	0	1	2	0	0	1	2	1	7	1	5	1	7	1	1	1	7	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:28200505G>T	ENST00000252207.5	+	4	882	c.734G>T	c.(733-735)tGg>tTg	p.W245L	ZSCAN9_ENST00000531979.1_Missense_Mutation_p.W245L|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.W296L	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	245					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAGAGGCAGTGGGGAAACCTC	0.463																																																	0													88	74	79					6																	28200505		2203	4300	6503	SO:0001583	missense	0			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"-", "Zinc fingers, C2H2-type"	12984	protein-coding gene	gene with protein product		602246	"zinc finger protein 193"	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.734G>T	6.37:g.28200505G>T	ENSP00000252207:p.Trp245Leu		B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.W245L	ENST00000252207.5	37	c.734	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838763	0.16891	.	.	ENSG00000137185	ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527844	T;T;T;T	0.00922	5.54;5.54;5.54;5.54	3.58	1.75	0.24633	.	.	.	.	.	T	0.00271	0.0008	N	0.16166	0.38	0.09310	N	1	B;B	0.15930	0.015;0.005	B;B	0.12156	0.007;0.004	T	0.39375	-0.9617	9	0.36615	T	0.2	.	5.2834	0.15688	0.3833:0.0:0.6167:0.0	.	296;245	E7EVQ2;O15535	.;ZN193_HUMAN	L	296;245;245;274	ENSP00000404074:W296L;ENSP00000252207:W245L;ENSP00000433402:W245L;ENSP00000436166:W274L	ENSP00000252207:W245L	W	+	2	0	ZNF193	28308484	0.001000	0.12720	0.003000	0.11579	0.127000	0.20565	0.379000	0.20585	0.489000	0.27749	-0.140000	0.14226	TGG	ZSCAN9	-	NULL	ENSG00000137185		0.463	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZSCAN9	HGNC	protein_coding	OTTHUMT00000040183.2	-	0	44	0	G	NM_006299		28200505	1	tier1	-	no_errors	ENST00000252207	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.001	T	T	28200505	G	T	28200505	3	4	97	1	0	0	0	0	1	0	0	0	17805	1357	47	3	744	3	ZNF193	6	28200505	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	27805609	28200505	142914562	125	27737											
OR12D3	81797	genome.wustl.edu	37	chr6	29342221	29342221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gattagtggattcagtacagGggtgacggcgctatacatga	11	10	14	6	2	1	2	1	2	0	0	1	4	1	3	0	4	2	2	0	4	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:29342221G>T	ENST00000396806.3	-	1	847	c.844C>A	c.(844-846)Cct>Act	p.P282T	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TTCAGTACAGGGGTGACGGCG	0.453																																																	0													137	134	135					6																	29342221		1511	2709	4220	SO:0001583	missense	0				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.844C>A	6.37:g.29342221G>T	ENSP00000380023:p.Pro282Thr		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282T	ENST00000396806.3	37	c.844	CCDS4658.1	6	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399931	0.25291	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00344	8.02	4.19	3.31	0.37934	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	H	0.95884	3.735	0.09310	N	0.999991	D	0.71674	0.998	D	0.74023	0.982	T	0.25779	-1.0122	9	0.87932	D	0	-6.0603	11.7233	0.51696	0.0889:0.0:0.9111:0.0	.	282	Q9UGF7	O12D3_HUMAN	T	282	ENSP00000380023:P282T	ENSP00000366348:P282T	P	-	1	0	OR12D3	29450200	0.977000	0.34250	0.830000	0.32933	0.024000	0.10985	3.091000	0.50199	0.960000	0.38005	0.205000	0.17691	CCT	OR12D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000112462		0.453	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	HGNC	protein_coding	OTTHUMT00000076056.3	-	0	49	0	G			29342221	-1	tier1	-	no_errors	ENST00000396806	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.290	T	T	29342221	G	T	29342221	3	4	97	1	0	0	0	0	1	0	0	0	10971	1232	43	3	110	3	OR12D3	6	29342221	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1141716	29342221	141772846	126	27738											
TRIM10	10107	genome.wustl.edu	37	chr6	30123537	30123537	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcaaagcatagtttttCtgtaaagaaaataaaccagg	18	10	6	7	0	2	1	1	0	1	1	2	1	2	1	1	1	3	3	1	1	9	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:30123537C>A	ENST00000449742.2	-	6	971		c.e6-1		TRIM10_ENST00000376704.3_Splice_Site	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10						erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						CATAGTTTTTCTGTAAAGAAA	0.403																																																	0													74	70	71					6																	30123537		2203	4300	6503	SO:0001630	splice_region_variant	0			Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10072	protein-coding gene	gene with protein product		605701	"tripartite motif-containing 10"	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.896-1G>T	6.37:g.30123537C>A			A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Splice_Site	SNP	-	e6-1	ENST00000449742.2	37	c.896-1	CCDS34375.1	6	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354405	0.24512	.	.	ENSG00000204613	ENST00000449742;ENST00000376704	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5092	0.61502	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIM10	30231516	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	3.489000	0.53237	2.626000	0.88956	0.643000	0.83706	.	TRIM10	-	-	ENSG00000204613		0.403	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM10	HGNC	protein_coding	OTTHUMT00000076634.1	-	0	55	0	C		Intron	30123537	-1	tier1	-	no_errors	ENST00000449742	ensembl	human	known	74_37	splice_site	5.95	79	5	SNP	1.000	A	A	30123537	C	A	30123537	5	1	97	1	0	0	0	0	0	0	1	0	16534	927	32	3	646	3	TRIM10	6	30123537	Splice_Site	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	781316	30123537	140991530	127	27739											
GRM4	2914	genome.wustl.edu	37	chr6	34029734	34029734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtctccaggaggcggcGgatgatcttgtcgaactcgc	8	8	14	11	5	2	1	0	1	2	0	5	5	2	3	1	4	1	0	1	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:34029734G>A	ENST00000538487.2	-	4	1251	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	GRM4_ENST00000535756.1_Missense_Mutation_p.R137C|GRM4_ENST00000374177.3_Missense_Mutation_p.R201C|GRM4_ENST00000455714.2_Missense_Mutation_p.R130C|GRM4_ENST00000544773.2_Missense_Mutation_p.R101C|GRM4_ENST00000374181.4_Missense_Mutation_p.R270C|GRM4_ENST00000609222.1_Missense_Mutation_p.R137C|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	270					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGAGGCGGCGGATGATCTTG	0.632																																																	0													142	120	127					6																	34029734		2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.808C>T	6.37:g.34029734G>A	ENSP00000440556:p.Arg270Cys		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.R270C	ENST00000538487.2	37	c.808	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963000	0.74016	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	4.01	0.826	0.18829	Extracellular ligand-binding receptor (1);	0.169534	0.37219	N	0.002182	D	0.85396	0.5687	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.998	P;P;P;P;D	0.64877	0.892;0.901;0.862;0.828;0.93	D	0.84916	0.0851	10	0.72032	D	0.01	.	8.8745	0.35337	0.0:0.1454:0.5542:0.3004	.	270;101;130;270;137	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	C	270;201;137;101;270;130	ENSP00000363296:R270C;ENSP00000363292:R201C;ENSP00000437925:R137C;ENSP00000437730:R101C;ENSP00000440556:R270C;ENSP00000398456:R130C	ENSP00000363292:R201C	R	-	1	0	GRM4	34137712	0.957000	0.32711	0.984000	0.44739	0.985000	0.73830	1.471000	0.35365	0.033000	0.15463	0.530000	0.56133	CGC	GRM4	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt	ENSG00000124493		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0	45	0	G			34029734	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	88.71	7	55	SNP	0.970	A	A	34029734	G	A	34029734	3	1	97	1	0	0	0	0	1	0	0	0	6826	1116	39	1	1962	1	GRM4	6	34029734	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3906197	34029734	137085333	128	27740											
PNPLA1	285848	genome.wustl.edu	37	chr6	36238358	36238358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgggacctggccccccGgatgctggaaacagcccacc	7	4	12	18	2	0	0	0	0	0	0	0	3	0	3	7	4	4	1	7	4	1	0	rs371743068		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:36238358G>A	ENST00000394571.2	+	1	122	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	PNPLA1_ENST00000388715.3_Intron|PNPLA1_ENST00000312917.5_Intron	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	41	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTGGCCCCCCGGATGCTGGAA	0.662																																																	0													17	22	20					6																	36238358		692	1591	2283	SO:0001583	missense	0				CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"Patatin-like phospholipase domain containing"	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.122G>A	6.37:g.36238358G>A	ENSP00000378072:p.Arg41Gln		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.R41Q	ENST00000394571.2	37	c.122	CCDS54997.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077725	0.76528	.	.	ENSG00000180316	ENST00000457797;ENST00000394571	T;T	0.80214	-1.35;-1.35	4.42	3.53	0.40419	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.150937	0.27147	U	0.020715	T	0.61375	0.2342	N	0.17474	0.49	0.26737	N	0.970477	D	0.67145	0.996	D	0.63381	0.914	T	0.54221	-0.8326	10	0.12766	T	0.61	-15.4586	5.9229	0.19093	0.2217:0.0:0.7783:0.0	.	41	Q8N8W4	PLPL1_HUMAN	Q	41	ENSP00000391868:R41Q;ENSP00000378072:R41Q	ENSP00000378072:R41Q	R	+	2	0	PNPLA1	36346336	0.991000	0.36638	1.000000	0.80357	0.971000	0.66376	2.865000	0.48412	2.023000	0.59567	0.467000	0.42956	CGG	PNPLA1	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000180316		0.662	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA1	HGNC	protein_coding		-	0	85	0	G	NM_173676		36238358	1	tier1	-	no_errors	ENST00000457797	ensembl	human	known	74_37	missense	69.75	48	113	SNP	0.999	A	A	36238358	G	A	36238358	3	1	97	1	0	0	0	0	1	0	0	0	12203	1116	39	1	124	1	PNPLA1	6	36238358	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2208624	36238358	134876709	129	27741											
DAAM2	23500	genome.wustl.edu	37	chr6	39864622	39864622	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgggagctggtccgcagCaagcgtcttagacagatgct	8	8	13	12	3	1	2	0	0	1	2	3	3	3	3	2	2	4	4	2	2	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:39864622C>G	ENST00000398904.2	+	20	2558	c.2376C>G	c.(2374-2376)agC>agG	p.S792R	RP11-61I13.3_ENST00000437947.1_RNA|RP11-61I13.3_ENST00000430595.1_RNA|RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Missense_Mutation_p.S792R|DAAM2_ENST00000538976.1_Missense_Mutation_p.S792R			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	792	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGTCCGCAGCAAGCGTCTTA	0.622																																																	0													24	29	27					6																	39864622		2012	4172	6184	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2376C>G	6.37:g.39864622C>G	ENSP00000381876:p.Ser792Arg		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.S792R	ENST00000398904.2	37	c.2376	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937905	0.73557	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.71934	-0.61;-0.61;-0.61	5.03	5.03	0.67393	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.099963	0.64402	D	0.000002	D	0.85682	0.5753	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.88511	0.3089	10	0.87932	D	0	.	10.815	0.46571	0.0:0.9126:0.0:0.0874	.	792;792	G5EA45;Q86T65	.;DAAM2_HUMAN	R	792	ENSP00000274867:S792R;ENSP00000381876:S792R;ENSP00000437808:S792R	ENSP00000274867:S792R	S	+	3	2	DAAM2	39972600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.953000	0.49105	2.608000	0.88229	0.561000	0.74099	AGC	DAAM2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000146122		0.622	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0	31	0	C			39864622	1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	G	G	39864622	C	G	39864622	3	3	97	1	0	0	0	0	1	0	0	0	4225	709	25	5	2450	5	DAAM2	6	39864622	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	3626264	39864622	131250445	130	27742											
EYS	346007	genome.wustl.edu	37	chr6	65767617	65767617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatatcaatttcacattgcGtacctttggaaaataggaaa	15	13	6	7	1	2	0	2	0	0	0	2	2	2	2	1	2	2	1	1	2	8	7	rs199944222		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:65767617G>A	ENST00000370621.3	-	13	2553	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	EYS_ENST00000370616.2_Missense_Mutation_p.T676M|EYS_ENST00000503581.1_Missense_Mutation_p.T676M			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	676	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTCACATTGCGTACCTTTGGA	0.388													G|||	1	0.000199681	0	0	5008	,	,		18496	0		0.001	False		,,,				2504	0																0													167	134	144					6																	65767617		692	1591	2283	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2027C>T	6.37:g.65767617G>A	ENSP00000359655:p.Thr676Met		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.T676M	ENST00000370621.3	37	c.2027		6	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672257	0.47781	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.91792	-2.91;-2.91;-2.91	5.58	-7.24	0.01475	.	.	.	.	.	T	0.81550	0.4846	M	0.85041	2.73	0.09310	N	1	B	0.26400	0.148	B	0.21917	0.037	T	0.68383	-0.5423	9	0.45353	T	0.12	.	4.8592	0.13575	0.5129:0.0852:0.2971:0.1049	.	676	Q5T1H1-1	.	M	676	ENSP00000424243:T676M;ENSP00000359655:T676M;ENSP00000359650:T676M	ENSP00000359650:T676M	T	-	2	0	EYS	65824338	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.074000	0.14662	-1.476000	0.01874	-0.186000	0.12905	ACG	EYS	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000188107		0.388	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	80	0	G	XM_294050		65767617	-1	tier1	rs199944222	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	33.65	69	35	SNP	0.000	A	A	65767617	G	A	65767617	3	1	97	1	0	0	0	0	1	0	0	0	5348	1145	40	1	7376	1	EYS	6	65767617	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	25902995	65767617	105347450	131	27743											
COL19A1	1310	genome.wustl.edu	37	chr6	70589540	70589540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccacttccgtgaccgttagGgacaagacaggtatccaggc	10	8	11	12	2	0	2	0	1	0	1	3	3	3	3	4	3	0	2	4	3	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:70589540G>T	ENST00000322773.4	+	2	183	c.81G>T	c.(79-81)agG>agT	p.R27S	COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	27					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGACCGTTAGGGACAAGACAG	0.413																																																	0													142	111	122					6																	70589540		2203	4300	6503	SO:0001583	missense	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"Collagens"	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.81G>T	6.37:g.70589540G>T	ENSP00000316030:p.Arg27Ser		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.R27S	ENST00000322773.4	37	c.81	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	G	6.016	0.371415	0.11409	.	.	ENSG00000082293	ENST00000322773	T	0.37915	1.17	5.73	0.244	0.15507	.	0.133094	0.46145	D	0.000307	T	0.13329	0.0323	L	0.56769	1.78	0.80722	D	1	B	0.14438	0.01	B	0.08055	0.003	T	0.05517	-1.0880	10	0.42905	T	0.14	.	4.2846	0.10848	0.5126:0.0:0.3195:0.1679	.	27	Q14993	COJA1_HUMAN	S	27	ENSP00000316030:R27S	ENSP00000316030:R27S	R	+	3	2	COL19A1	70646261	0.989000	0.36119	0.954000	0.39281	0.083000	0.17756	-0.031000	0.12287	0.102000	0.17638	-0.233000	0.12211	AGG	COL19A1	-	NULL	ENSG00000082293		0.413	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	-	0	79	0	G			70589540	1	tier1	-	no_errors	ENST00000322773	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.969	T	T	70589540	G	T	70589540	3	4	97	1	0	0	0	0	1	0	0	0	3683	1223	43	3	83	3	COL19A1	6	70589540	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4821923	70589540	100525527	132	27744											
KCNQ5	56479	genome.wustl.edu	37	chr6	73900333	73900333	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcaaaacggaagtttaagGaaacattacgtccatatgat	16	11	8	6	2	0	1	0	1	0	0	1	3	1	3	1	2	4	2	1	2	7	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:73900333G>T	ENST00000370398.1	+	12	1724	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	KCNQ5_ENST00000342056.2_Nonsense_Mutation_p.E558*|KCNQ5_ENST00000402622.2_Nonsense_Mutation_p.E549*|KCNQ5_ENST00000403813.2_Nonsense_Mutation_p.E530*|KCNQ5_ENST00000355635.3_Nonsense_Mutation_p.E540*|KCNQ5_ENST00000355194.4_Nonsense_Mutation_p.E539*|KCNQ5_ENST00000414165.2_Nonsense_Mutation_p.E429*	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	539					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GAAGTTTAAGGAAACATTACG	0.303																																					GBM(142;1375 1859 14391 23261 44706)												0													85	75	78					6																	73900333		2203	4300	6503	SO:0001587	stop_gained	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1615G>T	6.37:g.73900333G>T	ENSP00000359425:p.Glu539*		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Nonsense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E549*	ENST00000370398.1	37	c.1645	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	G	41	8.970129	0.99021	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3416	0.90307	0.0:0.0:1.0:0.0	.	.	.	.	X	558;558;539;539;549;540;530;429	.	ENSP00000345055:E558X	E	+	1	0	KCNQ5	73957054	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.864000	0.99589	2.301000	0.77427	0.643000	0.83706	GAA	KCNQ5	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000185760		0.303	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	-	0	74	0	G	NM_019842		73900333	1	tier1	-	no_errors	ENST00000402622	ensembl	human	known	74_37	nonsense	5.32	89	5	SNP	1.000	T	T	73900333	G	T	73900333	4	4	97	1	0	0	0	0	0	1	0	0	8113	1175	41	3	1722	3	KCNQ5	6	73900333	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3310793	73900333	97214734	133	27745											
DDO	8528	genome.wustl.edu	37	chr6	110729555	110729555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctgataccaaatgaacaCcagcatctccagcttctgca	13	8	5	15	0	2	2	0	2	2	0	3	2	2	2	4	0	5	3	4	0	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:110729555C>T	ENST00000368924.3	-	3	362	c.347G>A	c.(346-348)gGt>gAt	p.G116D	DDO_ENST00000368923.3_Missense_Mutation_p.G116D	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	88					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAAATGAACACCAGCATCTCC	0.378																																																	0													120	116	117					6																	110729555		2203	4300	6503	SO:0001583	missense	0			D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.347G>A	6.37:g.110729555C>T	ENSP00000357920:p.Gly116Asp		A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.G116D	ENST00000368924.3	37	c.347	CCDS5082.1	6	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849094	0.91277	.	.	ENSG00000203797	ENST00000368924;ENST00000368923;ENST00000368925	T;D;T	0.95447	0.96;-3.71;0.96	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.98626	0.9540	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.98350	1.0543	10	0.36615	T	0.2	-19.7131	19.4442	0.94840	0.0:1.0:0.0:0.0	.	116;116	Q99489-4;Q99489-3	.;.	D	116;116;88	ENSP00000357920:G116D;ENSP00000357919:G116D;ENSP00000357921:G88D	ENSP00000357919:G116D	G	-	2	0	DDO	110836248	1.000000	0.71417	0.957000	0.39632	0.990000	0.78478	5.285000	0.65633	2.692000	0.91855	0.591000	0.81541	GGT	DDO	-	pfam_FAD-dep_OxRdtase	ENSG00000203797		0.378	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDO	HGNC	protein_coding	OTTHUMT00000041796.1	-	0	47	0	C			110729555	-1	tier1	-	no_errors	ENST00000368924	ensembl	human	known	74_37	missense	41.18	50	35	SNP	1.000	T	T	110729555	C	T	110729555	3	4	97	1	0	0	0	0	1	0	0	0	4343	507	18	3	774	3	DDO	6	110729555	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	36829222	110729555	60385512	134	27746											
BCLAF1	9774	genome.wustl.edu	37	chr6	136594287	136594287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctgatacgaagtgaaccGctcgtttagggtcattgcag	9	13	11	8	3	2	2	1	2	1	0	3	3	2	2	1	1	3	3	1	1	4	5	rs79786930		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:136594287G>A	ENST00000531224.1	-	7	2143	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R629W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R629W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R629W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R458W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R631W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	631					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAAGTGAACCGCTCGTTTAGG	0.393																																					Colon(142;1534 1789 5427 7063 28491)												0													230	230	230					6																	136594287		2203	4300	6503	SO:0001583	missense	0			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1891C>T	6.37:g.136594287G>A	ENSP00000435210:p.Arg631Trp		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.R631W	ENST00000531224.1	37	c.1891	CCDS5177.1	6	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.57	3.161344	0.57368	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.42	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.70684	0.3252	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.988	T	0.75764	-0.3203	10	0.87932	D	0	-7.0482	11.4949	0.50402	0.0:0.0:0.24:0.76	.	629;629;631;458	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	W	631;629;631;458;629;629;631	ENSP00000435210:R631W;ENSP00000229446:R629W;ENSP00000435441:R631W;ENSP00000436501:R458W;ENSP00000434826:R629W;ENSP00000376159:R629W;ENSP00000431734:R631W	ENSP00000229446:R629W	R	-	1	2	BCLAF1	136635980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.892000	0.56235	1.191000	0.43056	0.655000	0.94253	CGG	BCLAF1	-	NULL	ENSG00000029363		0.393	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2		0	52	0	G	NM_014739		136594287	-1			no_errors	ENST00000531224	ensembl	human	known	74_37	missense	10.17	53	6	SNP	1.000	A	A	136594287	G	A	136594287	3	1	97	1	0	0	0	0	1	0	0	0	1384	1086	38	1	899	1	BCLAF1	6	136594287	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	25864732	136594287	34520780	135	27747											
IL22RA2	116379	genome.wustl.edu	37	chr6	137468892	137468892	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgttaattataaaaactcgGtatagtagttcatagtaatc	15	16	6	4	1	1	0	1	0	0	0	3	0	1	0	0	1	1	5	0	1	10	10			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:137468892G>T	ENST00000296980.2	-	6	909	c.609C>A	c.(607-609)taC>taA	p.Y203*	IL22RA2_ENST00000349184.4_Nonsense_Mutation_p.Y171*|IL22RA2_ENST00000339602.3_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	203	Fibronectin type-III 3.				cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TAAAAACTCGGTATAGTAGTT	0.274																																																	0													52	58	56					6																	137468892		2202	4295	6497	SO:0001587	stop_gained	0			AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"Interleukins and interleukin receptors"	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.609C>A	6.37:g.137468892G>T	ENSP00000296980:p.Tyr203*		Q08AH7|Q6UWM1|Q96A41|Q96QR0	Nonsense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.Y203*	ENST00000296980.2	37	c.609	CCDS5182.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.337378	0.95758	.	.	ENSG00000164485	ENST00000349184;ENST00000296980	.	.	.	5.58	1.39	0.22231	.	0.220980	0.40064	N	0.001189	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3568	0.26723	0.4123:0.0:0.5877:0.0	.	.	.	.	X	171;203	.	ENSP00000296980:Y203X	Y	-	3	2	IL22RA2	137510585	0.275000	0.24201	0.976000	0.42696	0.535000	0.34838	-0.177000	0.09796	-0.039000	0.13602	0.655000	0.94253	TAC	IL22RA2	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	ENSG00000164485		0.274	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	IL22RA2	HGNC	protein_coding	OTTHUMT00000042399.1	-	0	30	0	G			137468892	-1	tier1	-	no_errors	ENST00000296980	ensembl	human	known	74_37	nonsense	8.16	45	4	SNP	0.991	T	T	137468892	G	T	137468892	4	4	97	1	0	0	0	0	0	1	0	0	7701	1256	44	3	190	3	IL22RA2	6	137468892	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	874605	137468892	33646175	136	27748											
GPR126	57211	genome.wustl.edu	37	chr6	142715088	142715088	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagagaagccttgaggatGagccaaggtaacaggacaaa	17	5	12	7	0	1	3	1	2	0	1	1	6	1	5	2	3	3	1	2	3	5	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:142715088G>T	ENST00000230173.6	+	9	1893	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	GPR126_ENST00000367608.2_Nonsense_Mutation_p.E445*|GPR126_ENST00000296932.8_Nonsense_Mutation_p.E445*|GPR126_ENST00000367609.3_Nonsense_Mutation_p.E473*	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	473					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCTTGAGGATGAGCCAAGGTA	0.353																																																	0													111	101	104					6																	142715088		1845	4085	5930	SO:0001587	stop_gained	0			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"-", "GPCR / Class B : Orphans"	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1417G>T	6.37:g.142715088G>T	ENSP00000230173:p.Glu473*		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E473*	ENST00000230173.6	37	c.1417	CCDS47490.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.776541|7.776541	0.98483|0.98483	.|.	.|.	ENSG00000112414|ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609|ENST00000508295	.|.	.|.	.|.	5.42|5.42	4.55|4.55	0.56014|0.56014	.|.	0.512405|.	0.19162|.	N|.	0.121157|.	.|T	.|0.35480	.|0.0933	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31251	.|-0.9950	.|3	0.24483|.	T|.	0.36|.	.|.	8.1809|8.1809	0.31311|0.31311	0.0848:0.1575:0.7577:0.0|0.0848:0.1575:0.7577:0.0	.|.	.|.	.|.	.|.	X|I	473;445;445;473|47	.|.	ENSP00000230173:E473X|.	E|M	+|+	1|3	0|0	GPR126|GPR126	142756781|142756781	0.979000|0.979000	0.34478|0.34478	0.040000|0.040000	0.18447|0.18447	0.074000|0.074000	0.17049|0.17049	2.147000|2.147000	0.42226|0.42226	1.414000|1.414000	0.47017|0.47017	0.591000|0.591000	0.81541|0.81541	GAG|ATG	GPR126	-	NULL	ENSG00000112414		0.353	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	-	0	68	0	G			142715088	1	tier1	-	no_errors	ENST00000367609	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	0.655	T	T	142715088	G	T	142715088	4	4	97	1	0	0	0	0	0	1	0	0	6666	1291	45	3	1451	3	GPR126	6	142715088	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5246196	142715088	28399979	137	27749											
SYNE1	23345	genome.wustl.edu	37	chr6	152651069	152651069	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcctcttggatgtcctgCaggttgaggtctaggtacac	7	14	11	9	0	2	1	0	1	2	0	4	2	4	2	2	4	2	3	2	4	2	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:152651069C>A	ENST00000367255.5	-	78	15352	c.14751G>T	c.(14749-14751)ctG>ctT	p.L4917L	SYNE1_ENST00000423061.1_Silent_p.L4846L|SYNE1_ENST00000341594.5_Silent_p.L4664L|SYNE1_ENST00000448038.1_Silent_p.L4846L|SYNE1_ENST00000265368.4_Silent_p.L4917L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4917					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L4917L(2)|p.L4846L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATGTCCTGCAGGTTGAGGT	0.502										HNSCC(10;0.0054)																																							3	Substitution - coding silent(3)	lung(3)											196	187	190					6																	152651069		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.14751G>T	6.37:g.152651069C>A			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L4917	ENST00000367255.5	37	c.14751	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0	21	0	C	NM_182961		152651069	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.150	A	A	152651069	C	A	152651069	2	1	97	1	0	0	0	0	0	0	0	1	15492	697	25	3		3	SYNE1	6	152651069	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	9935981	152651069	18463998	138	27750											
VIP	7432	genome.wustl.edu	37	chr6	153073408	153073408	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcctctttacagggcaccTtctgctctcaggtaagttcc	6	13	9	13	0	3	0	1	0	3	0	5	0	4	0	3	3	2	4	3	3	2	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:153073408T>G	ENST00000367244.3	+	2	268	c.96T>G	c.(94-96)ccT>ccG	p.P32P	VIP_ENST00000367243.3_Silent_p.P32P	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	32					body fluid secretion (GO:0007589)|G-protein coupled receptor signaling pathway (GO:0007186)|learning or memory (GO:0007611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of penile erection (GO:0060406)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of vasodilation (GO:0045909)|regulation of protein localization (GO:0032880)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)	extracellular region (GO:0005576)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		ACAGGGCACCTTCTGCTCTCA	0.438																																																	0													124	105	112					6																	153073408		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5240.1, CCDS5241.1	6q24-q27	2013-02-28			ENSG00000146469	ENSG00000146469		"Endogenous ligands"	12693	protein-coding gene	gene with protein product	"prepro-VIP"	192320					Standard	NM_003381		Approved		uc003qpe.4	P01282	OTTHUMG00000015851	ENST00000367244.3:c.96T>G	6.37:g.153073408T>G			Q5TCY8|Q5TCY9|Q96QK3	Silent	SNP	pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP	p.P32	ENST00000367244.3	37	c.96	CCDS5240.1	6																																																																																			VIP	-	NULL	ENSG00000146469		0.438	VIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VIP	HGNC	protein_coding	OTTHUMT00000042751.1	-	0	36	0	T			153073408	1	tier1	-	no_errors	ENST00000367244	ensembl	human	known	74_37	silent	41.18	30	21	SNP	0.151	G	G	153073408	T	G	153073408	2	3	97	1	0	0	0	0	0	0	0	1	17216	1596	56	4		4	VIP	6	153073408	Silent	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	422339	153073408	18041659	139	27751											
WTAP	9589	genome.wustl.edu	37	chr6	160176454	160176454	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtaaatcaactcagtgcGgggtatgaaagtgtagactc	13	10	11	7	2	2	2	2	1	0	1	3	2	2	2	0	2	3	3	0	2	7	4	rs370838345		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:160176454G>A	ENST00000358372.4	+	8	2759	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	334					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AACTCAGTGCGGGGTATGAAA	0.483																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	106	98	100		1002	1.6	1	6		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WTAP	NM_004906.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		334/397	160176454	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1002G>A	6.37:g.160176454G>A			Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Silent	SNP	NULL	p.A334	ENST00000358372.4	37	c.1002	CCDS5266.1	6																																																																																			WTAP	-	NULL	ENSG00000146457		0.483	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WTAP	HGNC	protein_coding	OTTHUMT00000042905.1	-	0	60	0	G	NM_152857		160176454	1	tier1	-	no_errors	ENST00000358372	ensembl	human	known	74_37	silent	50.65	38	39	SNP	1.000	A	A	160176454	G	A	160176454	2	1	97	1	0	0	0	0	0	0	0	1	17458	1103	39	1		1	WTAP	6	160176454	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7103046	160176454	10938613	140	27752											
PARK2	5071	genome.wustl.edu	37	chr6	161969885	161969885	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggggtgtgggcagtactcaCcccacagcccaggccattgc	8	6	13	14	0	1	0	1	0	0	0	1	0	1	0	4	4	3	2	4	4	1	2	rs111546299	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:161969885C>T	ENST00000366898.1	-	9	1186		c.e9+1		PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000366896.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCAGTACTCACCCCACAGCCC	0.567																																																	0													87	95	92					6																	161969885		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"Parkinson disease"	8607	protein-coding gene	gene with protein product	"E3 ubiquitin ligase"	602544	"Parkinson disease (autosomal recessive, juvenile) 2, parkin", "parkinson protein 2, E3 ubiquitin protein ligase (parkin)"			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1083+1G>A	6.37:g.161969885C>T			A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	-	e9+1	ENST00000366898.1	37	c.1083+1	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825248	0.90955	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0673	0.89395	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	161889875	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.751000	0.68720	2.689000	0.91719	0.650000	0.86243	.	PARK2	-	-	ENSG00000185345		0.567	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	-	0	42	0	C		Intron	161969885	-1	tier1	rs111546299	no_errors	ENST00000366898	ensembl	human	known	74_37	splice_site	6.90	54	4	SNP	1.000	T	T	161969885	C	T	161969885	5	4	97	1	0	0	0	0	0	0	1	0	11488	521	18	3	329	3	PARK2	6	161969885	Splice_Site	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	1793431	161969885	9145182	141	27753											
TBP	6908	genome.wustl.edu	37	chr6	170871034	170871034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcaacagcaacagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr6:170871034G>A	ENST00000392092.2	+	3	489	c.210G>A	c.(208-210)caG>caA	p.Q70Q	TBP_ENST00000540980.1_Silent_p.Q50Q|TBP_ENST00000230354.6_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	70	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcaacagc	0.572																																																	0													20	24	23					6																	170871034		2049	3974	6023	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"General transcription factors"	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.210G>A	6.37:g.170871034G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q70	ENST00000392092.2	37	c.210	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0	62	0	G	NM_003194		170871034	1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	silent	13.85	56	9	SNP	0.924	A	A	170871034	G	A	170871034	2	1	97	1	0	0	0	0	0	0	0	1	15691	962	34	3		3	TBP	6	170871034	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8901149	170871034	244033	142	27754											
SDK1	221935	genome.wustl.edu	37	chr7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatggccccaaccattGtggttcccccgggcaacaga	11	6	9	15	1	0	1	0	0	0	1	1	1	1	1	6	3	3	2	6	3	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:3990593G>T	ENST00000404826.2	+	6	1025	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	296	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAACCATTGTGGTTCCCCC	0.552																																																	0													103	78	87					7																	3990593		2203	4300	6503	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.886G>T	7.37:g.3990593G>T	ENSP00000385899:p.Val296Leu		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V296L	ENST00000404826.2	37	c.886	CCDS34590.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.91|18.91	3.723522|3.723522	0.68959|0.68959	.|.	.|.	ENSG00000146555|ENSG00000146555	ENST00000426596|ENST00000404826;ENST00000389531	.|T;T	.|0.03094	.|4.05;4.05	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.13841|0.13841	0.0335|0.0335	L|L	0.42632|0.42632	1.34|1.34	0.47994|0.47994	D|D	0.999561|0.999561	.|D	.|0.71674	.|0.998	.|D	.|0.83275	.|0.996	T|T	0.00300|0.00300	-1.1835|-1.1835	5|10	.|0.62326	.|D	.|0.03	.|.	17.8203|17.8203	0.88648|0.88648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296	.|Q7Z5N4	.|SDK1_HUMAN	F|L	14|296	.|ENSP00000385899:V296L;ENSP00000374182:V296L	.|ENSP00000374182:V296L	L|V	+|+	3|1	2|0	SDK1|SDK1	3957119|3957119	1.000000|1.000000	0.71417|0.71417	0.308000|0.308000	0.25141|0.25141	0.514000|0.514000	0.34195|0.34195	4.957000|4.957000	0.63652|0.63652	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	TTG|GTG	SDK1	-	pfscan_Ig-like_dom	ENSG00000146555		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1		0	56	0	G	NM_152744		3990593	1			no_errors	ENST00000404826	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.970	T	T	3990593	G	T	3990593	3	4	97	1	0	0	0	0	1	0	0	0	14013	1377	48	3	908	3	SDK1	7	3990593	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		3990593	155148070	143	27755											
FERD3L	222894	genome.wustl.edu	37	chr7	19184740	19184740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagggagacacctcttccGcgctcctcttcctcctcctc	6	11	6	18	2	2	1	0	0	2	1	8	2	7	1	6	1	0	1	6	1	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:19184740G>A	ENST00000275461.3	-	1	304	c.246C>T	c.(244-246)cgC>cgT	p.R82R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	82					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CAcctcttccgcgctcctctt	0.612																																																	0													71	54	60					7																	19184740		2203	4300	6503	SO:0001819	synonymous_variant	0			AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"Basic helix-loop-helix proteins"	16660	protein-coding gene	gene with protein product			"Fer3-like (Drosophila)"			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.246C>T	7.37:g.19184740G>A			Q495K0	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R82	ENST00000275461.3	37	c.246	CCDS5368.1	7																																																																																			FERD3L	-	NULL	ENSG00000146618		0.612	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERD3L	HGNC	protein_coding	OTTHUMT00000207627.1	-	0	25	0	G			19184740	-1	tier1	-	no_errors	ENST00000275461	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.000	A	A	19184740	G	A	19184740	2	1	97	1	0	0	0	0	0	0	0	1	5838	1074	38	1		1	FERD3L	7	19184740	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	15194147	19184740	139953923	144	27756											
DNAH11	55536	genome.wustl.edu	37	chr7	21938963	21938963	+	IGR	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccataaaccaggttcaatgaCctcctcctgcgatgccgaga	11	8	8	14	2	1	2	1	1	0	1	3	4	3	2	6	1	3	1	6	1	3	2	rs72658828		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:21938963C>T	ENST00000406877.3	-	0	3066				DNAH11_ENST00000328843.6_Silent_p.D4360D|DNAH11_ENST00000409508.3_Silent_p.D4353D	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GGTTCAATGACCTCCTCCTGC	0.507																																																	0													163	160	161					7																	21938963		1949	4157	6106	SO:0001628	intergenic_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21938963C>T			A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D4360	ENST00000406877.3	37	c.13080	CCDS5374.1	7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom	ENSG00000105877		0.507	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000250218.4	-	0	50	0	C	NM_018719		21938963	1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	silent	11.63	38	5	SNP	1.000	T	T	21938963	C	T	21938963	1	4	97	0	1	0	0	0	0	0	0	0	4613	506	18	3		3	DNAH11	7	21938963	IGR	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2754223	21938963	137199700	145	27757											
NOD1	10392	genome.wustl.edu	37	chr7	30492190	30492190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccaggccatcgaaggtGaagagggccacgtgggggaa	10	5	17	9	3	0	2	0	1	0	1	3	4	1	3	3	5	0	0	3	5	3	0	rs5743341	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:30492190G>T	ENST00000222823.4	-	6	1368	c.843C>A	c.(841-843)ttC>ttA	p.F281L	NOD1_ENST00000423334.2_Nonsense_Mutation_p.S236*	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	281	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CATCGAAGGTGAAGAGGGCCA	0.652																																																	0													53	53	53					7																	30492190		2203	4300	6503	SO:0001583	missense	0			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"Nucleotide-binding domain and leucine rich repeat containing"	16390	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1", "NLR family, CARD domain containing 1"	605980	"caspase recruitment domain family, member 4"	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.843C>A	7.37:g.30492190G>T	ENSP00000222823:p.Phe281Leu		B4DTU3|Q549U4|Q8IWF5	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.S236*	ENST00000222823.4	37	c.707	CCDS5427.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.635911|6.635911	0.97722|0.97722	.|.	.|.	ENSG00000106100|ENSG00000106100	ENST00000222823|ENST00000423334	T|.	0.72505|.	-0.66|.	5.54|5.54	3.71|3.71	0.42584|0.42584	NACHT nucleoside triphosphatase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56337|.	0.1978|.	L|L	0.53249|0.53249	1.67|1.67	0.42919|0.42919	D|D	0.994286|0.994286	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.50440|.	-0.8828|.	10|.	0.19590|0.19590	T|T	0.45|0.45	.|.	9.2177|9.2177	0.37358|0.37358	0.225:0.0:0.775:0.0|0.225:0.0:0.775:0.0	.|.	281|.	Q9Y239|.	NOD1_HUMAN|.	L|X	281|236	ENSP00000222823:F281L|.	ENSP00000222823:F281L|ENSP00000409416:S236X	F|S	-|-	3|2	2|0	NOD1|NOD1	30458715|30458715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	2.012000|2.012000	0.40932|0.40932	1.335000|1.335000	0.45486|0.45486	0.563000|0.563000	0.77884|0.77884	TTC|TCA	NOD1	-	NULL	ENSG00000106100		0.652	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD1	HGNC	protein_coding	OTTHUMT00000250443.2	-	0	51	0	G			30492190	-1	tier1	-	no_errors	ENST00000423334	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	30492190	G	T	30492190	3	4	97	1	0	0	0	0	1	0	0	0	10555	1281	45	3	2054	3	NOD1	7	30492190	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8553227	30492190	128646473	146	27758											
SUMF2	25870	genome.wustl.edu	37	chr7	56136227	56136227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgggagattcctgatGggaacaaattctccagacag	12	8	13	8	0	1	3	0	1	1	2	3	5	2	4	2	3	1	0	2	3	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:56136227G>T	ENST00000413756.1	+	2	143	c.120G>T	c.(118-120)atG>atT	p.M40I	SUMF2_ENST00000395436.2_Missense_Mutation_p.M59I|SUMF2_ENST00000437307.2_Missense_Mutation_p.M40I|SUMF2_ENST00000275607.9_Intron|SUMF2_ENST00000395435.2_Missense_Mutation_p.M59I|SUMF2_ENST00000342190.6_Missense_Mutation_p.M59I|SUMF2_ENST00000434526.2_Missense_Mutation_p.M59I			Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	40					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GATTCCTGATGGGAACAAATT	0.463																																																	0													59	56	57					7																	56136227		2203	4300	6503	SO:0001583	missense	0			AK075477	CCDS5524.2, CCDS43588.2, CCDS43589.2, CCDS47589.1, CCDS55111.1	7q11.1	2004-04-30			ENSG00000129103	ENSG00000129103			20415	protein-coding gene	gene with protein product		607940				12757706	Standard	NM_015411		Approved	DKFZp566I1024	uc003trv.3	Q8NBJ7	OTTHUMG00000129373	ENST00000413756.1:c.120G>T	7.37:g.56136227G>T	ENSP00000406445:p.Met40Ile		B4DU41|B4DWQ0|Q14DW5|Q53ZE3|Q96BH2|Q9BRN3|Q9BWI1|Q9Y405	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.M59I	ENST00000413756.1	37	c.177		7	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311001	0.60414	.	.	ENSG00000129103	ENST00000395436;ENST00000434526;ENST00000395435;ENST00000413952;ENST00000342190;ENST00000437307;ENST00000413756;ENST00000451338	T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.84	3.94	0.45596	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	L	0.51914	1.62	0.80722	D	1	D;P;B;P;D;P	0.58620	0.961;0.66;0.14;0.778;0.983;0.846	P;P;B;P;P;P	0.59221	0.854;0.575;0.178;0.517;0.853;0.791	T	0.53760	-0.8393	10	0.39692	T	0.17	-14.4331	12.8838	0.58032	0.0865:0.0:0.9135:0.0	.	40;59;59;40;59;59	Q8NBJ7-5;A8MXB9;E7EMF9;Q8NBJ7;F8WA42;C9JL30	.;.;.;SUMF2_HUMAN;.;.	I	59;59;59;59;59;40;40;37	ENSP00000378824:M59I;ENSP00000400922:M59I;ENSP00000378823:M59I;ENSP00000414434:M59I;ENSP00000341938:M59I;ENSP00000415989:M40I;ENSP00000406445:M40I;ENSP00000410796:M37I	ENSP00000341938:M59I	M	+	3	0	SUMF2	56103721	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.128000	0.77217	2.406000	0.81754	0.484000	0.47621	ATG	SUMF2	-	pfam_FGE_dom,superfamily_C-type_lectin_fold	ENSG00000129103		0.463	SUMF2-013	NOVEL	basic|exp_conf	protein_coding	SUMF2	HGNC	protein_coding	OTTHUMT00000341457.2		0	108	0	G	NM_015411		56136227	1			no_errors	ENST00000342190	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	56136227	G	T	56136227	3	4	97	1	0	0	0	0	1	0	0	0	15433	1348	47	3	183	3	SUMF2	7	56136227	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	25644037	56136227	103002436	147	27759											
ZNF680	340252	genome.wustl.edu	37	chr7	63982352	63982352	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaagggtttctcttcaatAtgaattttcttatgtttaat	10	21	6	4	0	3	2	1	2	2	0	4	2	3	2	0	1	0	2	0	1	6	9			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:63982352A>G	ENST00000309683.6	-	4	931	c.780T>C	c.(778-780)caT>caC	p.H260H	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCTCTTCAATATGAATTTTCT	0.343																																																	0													35	38	37					7																	63982352		2203	4297	6500	SO:0001819	synonymous_variant	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"Zinc fingers, C2H2-type", "-"	26897	protein-coding gene	gene with protein product	"hypothetical protein FLJ90430"					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.780T>C	7.37:g.63982352A>G			B3KVJ4|Q6ZNF3|Q8NC79	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H260	ENST00000309683.6	37	c.780	CCDS34644.1	7																																																																																			ZNF680	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173041		0.343	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	-	0	51	0	A	NM_178558		63982352	-1	tier1	-	no_errors	ENST00000309683	ensembl	human	known	74_37	silent	46.81	25	22	SNP	1.000	G	G	63982352	A	G	63982352	2	3	97	1	0	0	0	0	0	0	0	1	18135	446	16	4		4	ZNF680	7	63982352	Silent	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	7846125	63982352	95156311	148	27760											
WBSCR17	64409	genome.wustl.edu	37	chr7	70597831	70597831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgctgttggtgttgaacTtgatcgcggtagccggcttc	6	13	14	8	3	0	2	0	2	0	0	2	2	0	2	1	3	3	5	1	3	3	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:70597831T>G	ENST00000333538.5	+	1	677	c.43T>G	c.(43-45)Ttg>Gtg	p.L15V		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	15					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGTTGAACTTGATCGCGGT	0.687																																																	0													58	54	55					7																	70597831		2201	4300	6501	SO:0001583	missense	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.43T>G	7.37:g.70597831T>G	ENSP00000329654:p.Leu15Val		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L15V	ENST00000333538.5	37	c.43	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812566	0.50527	.	.	ENSG00000185274	ENST00000333538	T	0.55234	0.53	4.85	1.1	0.20463	.	0.703928	0.13216	N	0.404740	T	0.29524	0.0736	N	0.14661	0.345	0.33108	D	0.540163	B	0.17852	0.024	B	0.14023	0.01	T	0.35724	-0.9777	10	0.10111	T	0.7	.	9.0279	0.36241	0.0:0.3886:0.0:0.6114	.	15	Q6IS24	GLTL3_HUMAN	V	15	ENSP00000329654:L15V	ENSP00000329654:L15V	L	+	1	2	WBSCR17	70235767	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.984000	0.29565	0.350000	0.24002	-0.400000	0.06385	TTG	WBSCR17	-	NULL	ENSG00000185274		0.687	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	-	0	62	0	T	NM_022479		70597831	1	tier1	-	no_errors	ENST00000333538	ensembl	human	known	74_37	missense	40.82	28	20	SNP	0.996	G	G	70597831	T	G	70597831	3	3	97	1	0	0	0	0	1	0	0	0	17313	1606	56	4	45	4	WBSCR17	7	70597831	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	6615479	70597831	88540832	149	27761											
STX1A	6804	genome.wustl.edu	37	chr7	73114766	73114766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccccaacagtggaggCgatgacgatgcccaggatca	11	5	13	12	2	1	1	1	1	0	0	1	6	1	3	3	3	3	0	3	3	1	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:73114766C>T	ENST00000222812.3	-	10	864	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	STX1A_ENST00000395156.3_3'UTR|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000484736.1_5'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	280					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACAGTGGAGGCGATGACGATG	0.607																																																	0													101	84	90					7																	73114766		2203	4300	6503	SO:0001583	missense	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.838G>A	7.37:g.73114766C>T	ENSP00000222812:p.Ala280Thr		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A280T	ENST00000222812.3	37	c.838	CCDS34655.1	7	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846669	0.71603	.	.	ENSG00000106089	ENST00000428377;ENST00000222812	T	0.44083	0.93	4.38	3.49	0.39957	.	0.063724	0.64402	D	0.000007	T	0.36331	0.0963	L	0.47716	1.5	0.80722	D	1	P	0.52061	0.95	B	0.41988	0.372	T	0.23655	-1.0182	10	0.46703	T	0.11	-33.198	12.3927	0.55368	0.0:0.8291:0.1709:0.0	.	280	Q16623	STX1A_HUMAN	T	163;280	ENSP00000222812:A280T	ENSP00000222812:A280T	A	-	1	0	STX1A	72752702	1.000000	0.71417	0.859000	0.33776	0.817000	0.46193	7.167000	0.77562	1.169000	0.42739	0.462000	0.41574	GCC	STX1A	-	NULL	ENSG00000106089		0.607	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1	-	0	27	0	C	NM_004603		73114766	-1	tier1	-	no_errors	ENST00000222812	ensembl	human	known	74_37	missense	47.83	12	11	SNP	1.000	T	T	73114766	C	T	73114766	3	4	97	1	0	0	0	0	1	0	0	0	15390	768	27	1	32	1	STX1A	7	73114766	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2516935	73114766	86023897	150	27762											
WBSCR27	155368	genome.wustl.edu	37	chr7	73255498	73255498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagtccactgcgaggcGgggcgcacggtacagcaggg	8	3	19	11	4	0	0	0	0	0	0	1	2	1	0	1	6	3	4	1	6	1	1	rs199987498		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:73255498G>T	ENST00000297873.4	-	3	203	c.154C>A	c.(154-156)Cgc>Agc	p.R52S		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	52										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ACTGCGAGGCGGGGCGCACGG	0.667																																																	0													27	27	27					7																	73255498		2202	4299	6501	SO:0001583	missense	0			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.154C>A	7.37:g.73255498G>T	ENSP00000297873:p.Arg52Ser			Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase	p.R52S	ENST00000297873.4	37	c.154	CCDS5561.1	7	.	.	.	.	.	.	.	.	.	.	G	1.097	-0.662156	0.03454	.	.	ENSG00000165171	ENST00000297873	T	0.34859	1.34	4.03	-0.281	0.12882	.	1.331270	0.04568	N	0.392807	T	0.27098	0.0664	L	0.55834	1.745	0.09310	N	1	B;B	0.32071	0.355;0.026	B;B	0.25987	0.065;0.016	T	0.10753	-1.0616	10	0.13470	T	0.59	-3.4056	3.1668	0.06539	0.212:0.0:0.4268:0.3612	.	52;52	B4DWM3;Q8N6F8	.;WBS27_HUMAN	S	52	ENSP00000297873:R52S	ENSP00000297873:R52S	R	-	1	0	WBSCR27	72893434	0.000000	0.05858	0.044000	0.18714	0.015000	0.08874	-0.191000	0.09601	-0.178000	0.10672	0.561000	0.74099	CGC	WBSCR27	-	pfam_UbiE/COQ5_MeTrFase	ENSG00000165171		0.667	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR27	HGNC	protein_coding	OTTHUMT00000252312.1	-	0	68	0	G	NM_152559		73255498	-1	tier1	-	no_errors	ENST00000297873	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.116	T	T	73255498	G	T	73255498	3	4	97	1	0	0	0	0	1	0	0	0	17315	1116	39	2	599	2	WBSCR27	7	73255498	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	140732	73255498	85883165	151	27763											
ELN	2006	genome.wustl.edu	37	chr7	73477992	73477992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggaggactcggagtcggaGggcttggagttccaggtgtt	6	10	18	7	3	0	0	0	0	0	0	4	5	1	5	1	7	0	3	1	7	0	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:73477992G>T	ENST00000252034.7	+	29	2359	c.1960G>T	c.(1960-1962)Ggg>Tgg	p.G654W	ELN_ENST00000357036.5_Missense_Mutation_p.G659W|ELN_ENST00000320492.7_Missense_Mutation_p.G573W|ELN_ENST00000358929.4_Missense_Mutation_p.G722W|ELN_ENST00000458204.1_Missense_Mutation_p.G644W|ELN_ENST00000380553.4_Missense_Mutation_p.G518W|ELN_ENST00000380584.4_Missense_Mutation_p.G606W|ELN_ENST00000380575.4_Missense_Mutation_p.G625W|ELN_ENST00000380562.4_Missense_Mutation_p.G660W|ELN_ENST00000380576.5_Missense_Mutation_p.G635W|ELN_ENST00000429192.1_Missense_Mutation_p.G640W|ELN_ENST00000320399.6_Missense_Mutation_p.G687W|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G630W|ELN_ENST00000445912.1_Missense_Mutation_p.G654W	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CGGAGTCGGAGGGCTTGGAGT	0.582			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													177	141	153					7																	73477992		2203	4300	6503	SO:0001583	missense	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1960G>T	7.37:g.73477992G>T	ENSP00000252034:p.Gly654Trp		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.G722W	ENST00000252034.7	37	c.2164	CCDS5562.2	7	.	.	.	.	.	.	.	.	.	.	G	10.64	1.408316	0.25378	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000442462;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63255	0.02;0.07;0.47;0.27;0.11;0.09;0.13;0.09;0.15;0.14;0.17;-0.03;0.11;0.15	2.83	2.83	0.33086	.	.	.	.	.	T	0.74261	0.3693	.	.	.	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992;0.992	T	0.60372	-0.7276	8	0.66056	D	0.02	.	9.4186	0.38536	0.0:0.0:1.0:0.0	.	654;573;630;644;660;625;640;659;635;518;565;606;654	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	W	654;654;722;573;630;660;625;606;644;659;640;593;518;635;687	ENSP00000389857:G654W;ENSP00000252034:G654W;ENSP00000351807:G722W;ENSP00000315607:G573W;ENSP00000392575:G630W;ENSP00000369936:G660W;ENSP00000369949:G625W;ENSP00000369958:G606W;ENSP00000403162:G644W;ENSP00000349540:G659W;ENSP00000391129:G640W;ENSP00000369926:G518W;ENSP00000369950:G635W;ENSP00000313565:G687W	ENSP00000252034:G654W	G	+	1	0	ELN	73115928	0.637000	0.27216	0.046000	0.18839	0.010000	0.07245	3.558000	0.53749	1.916000	0.55485	0.460000	0.39030	GGG	ELN	-	NULL	ENSG00000049540		0.582	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	HGNC	protein_coding	OTTHUMT00000316913.1	-	0	72	0	G	NM_000501		73477992	1	tier1	-	no_errors	ENST00000358929	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.051	T	T	73477992	G	T	73477992	3	4	97	1	0	0	0	0	1	0	0	0	5087	1000	35	3	2089	3	ELN	7	73477992	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	222494	73477992	85660671	152	27764											
PION	54103	genome.wustl.edu	37	chr7	76984923	76984923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgttgaacattaagtaGgtggaagaaatgaccaggta	15	10	13	3	0	0	3	0	2	0	1	0	5	0	5	1	4	1	3	1	4	6	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:76984923G>T	ENST00000257626.7	-	15	1147	c.1069C>A	c.(1069-1071)Cta>Ata	p.L357I		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	357					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ACATTAAGTAGGTGGAAGAAA	0.393																																																	0													127	129	128					7																	76984923		2203	4300	6503	SO:0001583	missense	0				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"pigeon homolog (Drosophila)"	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1069C>A	7.37:g.76984923G>T	ENSP00000257626:p.Leu357Ile		A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NULL	p.L357I	ENST00000257626.7	37	c.1069	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666956	0.67814	.	.	ENSG00000186088	ENST00000257626	T	0.24350	1.86	5.87	3.7	0.42460	.	0.387158	0.22824	U	0.055193	T	0.45094	0.1325	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.30268	-0.9984	10	0.66056	D	0.02	.	6.3279	0.21255	0.3075:0.0:0.6925:0.0	.	357;357	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	I	357	ENSP00000257626:L357I	ENSP00000257626:L357I	L	-	1	2	PION	76822859	0.988000	0.35896	0.913000	0.36048	0.912000	0.54170	0.988000	0.29616	0.519000	0.28406	0.655000	0.94253	CTA	GSAP	-	NULL	ENSG00000186088		0.393	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	HGNC	protein_coding	OTTHUMT00000318672.2	-	0	65	0	G	NM_017439		76984923	-1	tier1	-	no_errors	ENST00000257626	ensembl	human	known	74_37	missense	5.62	84	5	SNP	0.996	T	T	76984923	G	T	76984923	3	4	97	1	0	0	0	0	1	0	0	0	11973	991	35	3	1563	3	PION	7	76984923	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3506931	76984923	82153740	153	27765											
C7orf52	375607	genome.wustl.edu	37	chr7	100816688	100816688	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttgaccagctgcgagcaGaagcgctgcagcagcccggc	8	5	13	15	3	1	2	0	1	1	1	1	3	1	2	2	1	7	5	2	1	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:100816688G>A	ENST00000300303.2	-	3	664	c.426C>T	c.(424-426)ttC>ttT	p.F142F	NAT16_ENST00000455377.1_Silent_p.F142F	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	142	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										GCTGCGAGCAGAAGCGCTGCA	0.706																																																	0													26	28	27					7																	100816688		2201	4296	6497	SO:0001819	synonymous_variant	0			AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"chromosome 7 open reading frame 52"	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.426C>T	7.37:g.100816688G>A			B3KRS2|Q8NDR1	Silent	SNP	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.F142	ENST00000300303.2	37	c.426	CCDS5713.1	7																																																																																			NAT16	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000167011		0.706	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT16	HGNC	protein_coding	OTTHUMT00000347465.1	-	0	11	0	G	NM_198571		100816688	-1	tier1	-	no_errors	ENST00000300303	ensembl	human	known	74_37	silent	50.00	8	8	SNP	1.000	A	A	100816688	G	A	100816688	2	1	97	1	0	0	0	0	0	0	0	1	2408	933	33	3		3	C7orf52	7	100816688	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	23831765	100816688	58321975	154	27766											
RELN	5649	genome.wustl.edu	37	chr7	103234809	103234809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgggatgatctgcttctGcttctcggacagaatgatga	10	12	11	8	1	3	4	0	3	3	1	4	6	3	6	0	2	3	2	0	2	2	2	rs549360134		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:103234809G>T	ENST00000428762.1	-	26	3829	c.3670C>A	c.(3670-3672)Cag>Aag	p.Q1224K	RELN_ENST00000343529.5_Missense_Mutation_p.Q1224K|RELN_ENST00000424685.2_Missense_Mutation_p.Q1224K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1224					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCTGCTTCTGCTTCTCGGAC	0.473																																					NSCLC(146;835 1944 15585 22231 52158)												0													284	274	277					7																	103234809		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3670C>A	7.37:g.103234809G>T	ENSP00000392423:p.Gln1224Lys		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.Q1224K	ENST00000428762.1	37	c.3670	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756123	0.49362	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22945	1.93;1.93;1.93	5.43	5.43	0.79202	.	0.063316	0.64402	D	0.000004	T	0.28863	0.0716	L	0.50333	1.59	0.42037	D	0.991051	B;B	0.28636	0.218;0.156	B;B	0.25614	0.047;0.062	T	0.06789	-1.0807	10	0.62326	D	0.03	.	19.2511	0.93926	0.0:0.0:1.0:0.0	.	1224;1224	P78509-2;P78509	.;RELN_HUMAN	K	1224	ENSP00000392423:Q1224K;ENSP00000345694:Q1224K;ENSP00000388446:Q1224K	ENSP00000345694:Q1224K	Q	-	1	0	RELN	103022045	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.285000	0.65633	2.534000	0.85438	0.591000	0.81541	CAG	RELN	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000189056		0.473	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	45	0	G	NM_005045		103234809	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	103234809	G	T	103234809	3	4	97	1	0	0	0	0	1	0	0	0	13265	1328	46	3	6872	3	RELN	7	103234809	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2418121	103234809	55903854	155	27767											
SLC26A4	5172	genome.wustl.edu	37	chr7	107303846	107303846	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttagtgacgtcatttcGggagttagtactgggctagt	7	14	13	7	2	1	1	1	1	0	0	2	2	1	2	0	2	2	4	0	2	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:107303846G>T	ENST00000265715.3	+	3	494	c.270G>T	c.(268-270)tcG>tcT	p.S90S	SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000440512.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000449741.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	90			S -> L (in DFNB4). {ECO:0000269|PubMed:12676893}.		chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACGTCATTTCGGGAGTTAGTA	0.507									Pendred syndrome																																								0													157	127	137					7																	107303846		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"Solute carriers"	8818	protein-coding gene	gene with protein product	"pendrin"	605646	"solute carrier family 26, member 4"	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.270G>T	7.37:g.107303846G>T			B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.S90	ENST00000265715.3	37	c.270	CCDS5746.1	7																																																																																			SLC26A4	-	tigrfam_SulP_transpt	ENSG00000091137		0.507	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	-	0	60	0	G	NM_000441		107303846	1	tier1	-	no_errors	ENST00000265715	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.009	T	T	107303846	G	T	107303846	2	4	97	1	0	0	0	0	0	0	0	1	14564	1103	39	2		2	SLC26A4	7	107303846	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4069037	107303846	51834817	156	27768											
FLNC	2318	genome.wustl.edu	37	chr7	128494232	128494232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcctgggccgggagcGcctgggatccttcggcagca	5	7	16	13	3	0	0	0	0	0	0	3	3	2	3	4	5	2	2	4	5	0	2	rs376035195		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:128494232G>T	ENST00000325888.8	+	40	6950	c.6689G>T	c.(6688-6690)cGc>cTc	p.R2230L	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2197L	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2230	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGCCGGGAGCGCCTGGGATCC	0.721																																																	0													20	27	25					7																	128494232		1970	4137	6107	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6689G>T	7.37:g.128494232G>T	ENSP00000327145:p.Arg2230Leu		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R2230L	ENST00000325888.8	37	c.6689	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307024	0.60305	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84800	-1.9;-1.9	5.64	5.64	0.86602	.	0.112857	0.56097	D	0.000025	T	0.77253	0.4103	N	0.19112	0.55	0.45477	D	0.99844	B;B	0.26483	0.15;0.0	B;B	0.22880	0.042;0.002	T	0.74166	-0.3753	10	0.49607	T	0.09	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2197;2230	Q14315-2;Q14315	.;FLNC_HUMAN	L	2230;2197	ENSP00000327145:R2230L;ENSP00000344002:R2197L	ENSP00000327145:R2230L	R	+	2	0	FLNC	128281468	1.000000	0.71417	0.968000	0.41197	0.980000	0.70556	8.956000	0.93066	2.655000	0.90218	0.655000	0.94253	CGC	FLNC	-	smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.721	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0	17	0	G			128494232	1			no_errors	ENST00000325888	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.996	T	T	128494232	G	T	128494232	3	4	97	1	0	0	0	0	1	0	0	0	5957	1087	38	2	6847	2	FLNC	7	128494232	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	21190386	128494232	30644431	157	27769											
TNPO3	23534	genome.wustl.edu	37	chr7	128655122	128655122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcgtaaggaacgactatGtacttcttcaggtaacactg	13	12	8	8	2	2	0	1	0	1	0	3	2	2	1	0	2	3	3	0	2	6	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:128655122G>T	ENST00000265388.5	-	4	606	c.463C>A	c.(463-465)Cat>Aat	p.H155N	TNPO3_ENST00000482320.1_Missense_Mutation_p.H89N|TNPO3_ENST00000393245.1_Missense_Mutation_p.H155N|TNPO3_ENST00000471234.1_Missense_Mutation_p.H155N|TNPO3_ENST00000471166.1_Missense_Mutation_p.H155N			Q9Y5L0	TNPO3_HUMAN	transportin 3	155					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GAACGACTATGTACTTCTTCA	0.373																																					Pancreas(147;583 2585 39696 52331)												0													107	97	101					7																	128655122		2203	4300	6503	SO:0001583	missense	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"Importins"	17103	protein-coding gene	gene with protein product	"importin 12"	610032	"limb girdle muscular dystrophy 1F (autosomal dominant)"	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.463C>A	7.37:g.128655122G>T	ENSP00000265388:p.His155Asn		A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.H155N	ENST00000265388.5	37	c.463	CCDS5809.1	7	.	.	.	.	.	.	.	.	.	.	G	7.922	0.738885	0.15642	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000482320;ENST00000471234;ENST00000471166	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.62	4.75	0.60458	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.08118	0	0.49687	D	0.999814	B;B;B	0.18863	0.008;0.031;0.005	B;B;B	0.13407	0.009;0.009;0.002	T	0.06481	-1.0824	10	0.13853	T	0.58	.	12.184	0.54227	0.083:0.0:0.917:0.0	.	155;155;155	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	N	155;155;89;155;155	ENSP00000376936:H155N;ENSP00000265388:H155N;ENSP00000420089:H89N;ENSP00000418646:H155N;ENSP00000418267:H155N	ENSP00000265388:H155N	H	-	1	0	TNPO3	128442358	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.862000	0.87013	1.370000	0.46153	0.591000	0.81541	CAT	TNPO3	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000064419		0.373	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	-	0	58	0	G	NM_012470		128655122	-1	tier1	-	no_errors	ENST00000393245	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	128655122	G	T	128655122	3	4	97	1	0	0	0	0	1	0	0	0	16384	1377	48	3	2384	3	TNPO3	7	128655122	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	160890	128655122	30483541	158	27770											
PODXL	5420	genome.wustl.edu	37	chr7	131191444	131191444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggtggctttgactgctcgGcatatcagtgagatcaattt	10	13	11	7	1	2	2	2	2	0	1	3	3	2	2	0	3	1	3	0	3	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:131191444G>A	ENST00000378555.3	-	6	1390	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	PODXL_ENST00000541194.1_Silent_p.C383C|PODXL_ENST00000322985.9_Silent_p.C349C|PODXL_ENST00000537928.1_Silent_p.C349C			O00592	PODXL_HUMAN	podocalyxin-like	381					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGACTGCTCGGCATATCAGTG	0.577											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													145	134	138					7																	131191444		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1143C>T	7.37:g.131191444G>A		1585	A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.C383	ENST00000378555.3	37	c.1149	CCDS34755.1	7																																																																																			PODXL	-	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	ENSG00000128567		0.577	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	-	0	59	0	G	NM_001018111		131191444	-1	tier1	-	no_errors	ENST00000541194	ensembl	human	known	74_37	silent	7.55	48	4	SNP	0.633	A	A	131191444	G	A	131191444	2	1	97	1	0	0	0	0	0	0	0	1	12219	1195	42	3		3	PODXL	7	131191444	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2536322	131191444	27947219	159	27771											
SMARCD3	6604	genome.wustl.edu	37	chr7	150939280	150939280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctcgatgaccaaactCttgaagaaagaagagaactt	16	8	8	9	1	1	5	0	2	1	3	3	7	2	5	2	0	3	1	2	0	5	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr7:150939280C>A	ENST00000262188.8	-	6	1028	c.618G>T	c.(616-618)aaG>aaT	p.K206N	SMARCD3_ENST00000356800.2_Missense_Mutation_p.K193N|SMARCD3_ENST00000392811.2_Missense_Mutation_p.K193N|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000477169.1_5'UTR	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	206					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGACCAAACTCTTGAAGAAAG	0.552																																																	0													97	103	101					7																	150939280		2203	4300	6503	SO:0001583	missense	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"mammalian chromatin remodeling complex BRG1-associated factor 60C", "Swp73-like protein", "SWI/SNF complex 60 kDa subunit C", "60kDa BRG-1/Brm associated factor subunit c"	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.618G>T	7.37:g.150939280C>A	ENSP00000262188:p.Lys206Asn		D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.K206N	ENST00000262188.8	37	c.618	CCDS34780.1	7	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399810	0.83120	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.55234	0.53;0.53;0.53	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.76256	0.3962	M	0.87269	2.87	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;D;D	0.87578	0.987;0.998;0.978;0.996	T	0.81265	-0.1011	10	0.87932	D	0	-25.7473	15.9814	0.80114	0.0:1.0:0.0:0.0	.	206;206;193;206	B7Z4U8;B7ZA58;Q6STE5-2;Q6STE5	.;.;.;SMRD3_HUMAN	N	206;193;193;158	ENSP00000262188:K206N;ENSP00000376558:K193N;ENSP00000349254:K193N	ENSP00000262188:K206N	K	-	3	2	SMARCD3	150570213	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.731000	0.38135	2.353000	0.79882	0.462000	0.41574	AAG	SMARCD3	-	NULL	ENSG00000082014		0.552	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1		0	55	0	C	NM_001003801		150939280	-1			no_errors	ENST00000262188	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	150939280	C	A	150939280	3	1	97	1	0	0	0	0	1	0	0	0	14824	912	32	3	865	3	SMARCD3	7	150939280	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	19747836	150939280	8199383	160	27772											
CSMD1	64478	genome.wustl.edu	37	chr8	2857615	2857615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagccatctccactaatgtGaccgttcacaatcgggtctg	10	10	9	12	2	3	1	1	1	2	0	5	2	3	1	3	1	1	1	3	1	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:2857615G>A	ENST00000520002.1	-	54	8626	c.8071C>T	c.(8071-8073)Cac>Tac	p.H2691Y	CSMD1_ENST00000602557.1_Missense_Mutation_p.H2691Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2633Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2690Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.H2633Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2632Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2691	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACTAATGTGACCGTTCACA	0.443																																																	0													95	94	94					8																	2857615		1904	4128	6032	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8071C>T	8.37:g.2857615G>A	ENSP00000430733:p.His2691Tyr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H2691Y	ENST00000520002.1	37	c.8071		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.29|18.29	3.592327|3.592327	0.66219|0.66219	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.63417|.	-0.04;-0.04;-0.04;-0.04|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Complement control module (2);Sushi/SCR/CCP (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.49660|0.49660	0.1570|0.1570	N|N	0.10916|0.10916	0.065|0.065	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.969;0.982;0.997|.	D;D;D|.	0.81914|.	0.968;0.909;0.995|.	T|T	0.41662|0.41662	-0.9496|-0.9496	10|5	0.25751|.	T|.	0.34|.	.|.	20.3473|20.3473	0.98799|0.98799	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2691;2691;2632|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	Y|L	2633;2691;2552;2690;2632|2107	ENSP00000383047:H2633Y;ENSP00000430733:H2691Y;ENSP00000441462:H2690Y;ENSP00000446243:H2632Y|.	ENSP00000320445:H2552Y|.	H|S	-|-	1|2	0|0	CSMD1|CSMD1	2845022|2845022	1.000000|1.000000	0.71417|0.71417	0.291000|0.291000	0.24904|0.24904	0.029000|0.029000	0.11900|0.11900	7.567000|7.567000	0.82357|0.82357	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CAC|TCA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	47	0	G	NM_033225		2857615	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.998	A	A	2857615	G	A	2857615	3	1	97	1	0	0	0	0	1	0	0	0	3953	1290	45	3	2698	3	CSMD1	8	2857615	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		2857615	143506407	161	27773											
CSMD1	64478	genome.wustl.edu	37	chr8	2976017	2976017	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtacccaggataacactCgaaagatactgattgcccca	15	8	7	11	1	0	2	0	1	0	1	1	4	0	3	3	1	4	1	3	1	5	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:2976017C>A	ENST00000520002.1	-	43	6892	c.6337G>T	c.(6337-6339)Gag>Tag	p.E2113*	CSMD1_ENST00000602557.1_Nonsense_Mutation_p.E2113*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.E2113*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.E2112*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.E2113*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.E2112*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2113	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E1841*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGATAACACTCGAAAGATACT	0.448																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											158	155	156					8																	2976017		2025	4171	6196	SO:0001587	stop_gained	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6337G>T	8.37:g.2976017C>A	ENSP00000430733:p.Glu2113*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.E2113*	ENST00000520002.1	37	c.6337		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.601701|12.601701	0.99681|0.99681	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.03|5.03	0.699|0.699	0.18093|0.18093	.|.	0.226724|.	0.36778|.	N|.	0.002401|.	.|T	.|0.59838	.|0.2223	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55835	.|-0.8078	.|4	0.59425|.	D|.	0.04|.	.|.	11.8243|11.8243	0.52259|0.52259	0.1277:0.5016:0.3706:0.0|0.1277:0.5016:0.3706:0.0	.|.	.|.	.|.	.|.	X|L	2113;2113;1974;2112;2112|1592	.|.	ENSP00000320445:E1974X|.	E|R	-|-	1|2	0|0	CSMD1|CSMD1	2963424|2963424	1.000000|1.000000	0.71417|0.71417	0.005000|0.005000	0.12908|0.12908	0.024000|0.024000	0.10985|0.10985	3.158000|3.158000	0.50723|0.50723	0.193000|0.193000	0.20303|0.20303	-0.300000|-0.300000	0.09419|0.09419	GAG|CGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.448	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	81	0	C	NM_033225		2976017	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.973	A	A	2976017	C	A	2976017	4	1	97	1	0	0	0	0	0	1	0	0	3953	893	31	2	4476	2	CSMD1	8	2976017	Nonsense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	118402	2976017	143388005	162	27774											
EPB49	2039	genome.wustl.edu	37	chr8	21929884	21929886	+	In_Frame_Del	DEL	GAG	GAG	-																															ctcggaggggagcagaggaaGaggaggaggaggaagatgac																								rs147423735		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:21929884_21929886delGAG	ENST00000523266.1	+	9	1114_1116	c.652_654delGAG	c.(652-654)gagdel	p.E222del	DMTN_ENST00000519907.1_In_Frame_Del_p.E222del|DMTN_ENST00000443491.2_In_Frame_Del_p.E197del|DMTN_ENST00000265800.5_In_Frame_Del_p.E222del|DMTN_ENST00000523782.2_In_Frame_Del_p.E197del|DMTN_ENST00000517600.1_In_Frame_Del_p.E182del|DMTN_ENST00000358242.3_In_Frame_Del_p.E222del|DMTN_ENST00000415253.1_In_Frame_Del_p.E222del|DMTN_ENST00000432128.1_In_Frame_Del_p.E222del|DMTN_ENST00000381470.3_In_Frame_Del_p.E222del	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	222	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										AGCAGAGGAAGAGGAGGAGGAGG	0.581																																																	0																																										SO:0001651	inframe_deletion	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.652_654delGAG	8.37:g.21929893_21929895delGAG	ENSP00000427866:p.Glu222del		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	In_Frame_Del	DEL	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.E221in_frame_del	ENST00000523266.1	37	c.652_654	CCDS6020.1	8																																																																																			DMTN	-	NULL	ENSG00000158856		0.581	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1		0	29	0	GAG	NM_001978		21929886	1	tier1		no_errors	ENST00000265800	ensembl	human	known	74_37	in_frame_del	12.00	22	3	DEL	0.977:0.984:0.990	-	-	21929886	GAG	-	21929884	7	5	97	1	0	1	0	1	0	0	0	0	5175	943	33	0	682	0	EPB49	8	21929884	In_Frame_Del	DEL	GAG	TCGA-L7-A6VZ-01A-12D-A33E-09	18953867	21929884	124434138	163	27775											
BMP1	649	genome.wustl.edu	37	chr8	22037293	22037293	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccattggccaaaggacacgGctcagcaagggggacattgc	11	5	13	12	1	1	0	1	0	0	0	1	2	1	2	2	5	2	2	2	5	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:22037293G>T	ENST00000306385.5	+	7	1582	c.912G>T	c.(910-912)cgG>cgT	p.R304R	BMP1_ENST00000397814.3_Silent_p.R304R|BMP1_ENST00000306349.8_Silent_p.R304R|BMP1_ENST00000397816.3_Silent_p.R304R|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	304	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.R304R(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AAAGGACACGGCTCAGCAAGG	0.582																																																	2	Substitution - coding silent(2)	endometrium(2)											111	87	95					8																	22037293		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"Bone morphogenetic proteins"	1067	protein-coding gene	gene with protein product	"procollagen C-endopeptidase"	112264	"procollagen C-endopeptidase"	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.912G>T	8.37:g.22037293G>T			A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.R304	ENST00000306385.5	37	c.912	CCDS6026.1	8																																																																																			BMP1	-	pirsf_BMP_1/tolloid-like,pfam_Peptidase_M12A	ENSG00000168487		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2		0	46	0	G	NM_006132		22037293	1			no_errors	ENST00000306385	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.992	T	T	22037293	G	T	22037293	2	4	97	1	0	0	0	0	0	0	0	1	1458	1190	42	3		3	BMP1	8	22037293	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	107409	22037293	124326729	164	27776											
HOOK3	84376	genome.wustl.edu	37	chr8	42823327	42823327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaaggccaacgcagcGcgaagtcaacttgaaaccta	16	6	9	10	3	1	2	1	1	0	1	1	3	1	2	2	1	4	1	2	1	7	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:42823327G>A	ENST00000307602.4	+	11	1292	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	364					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CCAACGCAGCGCGAAGTCAAC	0.413			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													73	70	71					8																	42823327		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1092G>A	8.37:g.42823327G>A			D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	pfam_Hook-related_fam,superfamily_t-SNARE	p.A364	ENST00000307602.4	37	c.1092	CCDS6139.1	8																																																																																			HOOK3	-	pfam_Hook-related_fam	ENSG00000168172		0.413	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2		0	41	0	G	NM_032410		42823327	1			no_errors	ENST00000307602	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.049	A	A	42823327	G	A	42823327	2	1	97	1	0	0	0	0	0	0	0	1	7311	1074	38	1		1	HOOK3	8	42823327	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	20786034	42823327	103540695	165	27777											
POU5F1B	5462	genome.wustl.edu	37	chr8	128428573	128428573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatttgccaagctcctgaaGcagaagaggatcaccctggg	12	7	11	11	0	1	3	1	1	0	2	2	4	2	4	3	2	3	2	3	2	4	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:128428573G>A	ENST00000465342.2	+	2	1619	c.462G>A	c.(460-462)aaG>aaA	p.K154K	CASC8_ENST00000501396.1_RNA|POU5F1B_ENST00000391675.1_Silent_p.K154K|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	154	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						AGCTCCTGAAGCAGAAGAGGA	0.527																																																	0													28	39	35					8																	128428573		692	1591	2283	SO:0001819	synonymous_variant	0			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"Homeoboxes / POU class"	9223	protein-coding gene	gene with protein product		615739	"POU domain class 5, transcription factor 1 pseudogene 1", "POU class 5 homeobox 1 pseudogene 1"	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.462G>A	8.37:g.128428573G>A			D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.K154	ENST00000465342.2	37	c.462	CCDS55274.1	8																																																																																			POU5F1B	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific	ENSG00000212993		0.527	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	-	0	60	0	G	NM_001159542		128428573	1	tier1	-	no_errors	ENST00000391675	ensembl	human	known	74_37	silent	24.03	98	31	SNP	1.000	A	A	128428573	G	A	128428573	2	1	97	1	0	0	0	0	0	0	0	1	12321	962	34	3		3	POU5F1B	8	128428573	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	85605246	128428573	17935449	166	27778											
ADCY8	114	genome.wustl.edu	37	chr8	132052057	132052057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatttgcgcctttggcccaAgaaatagcgctggtagaggc	9	9	13	10	3	0	2	0	0	0	2	0	3	0	2	2	3	2	2	2	3	4	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:132052057A>C	ENST00000286355.5	-	1	2615	c.523T>G	c.(523-525)Ttg>Gtg	p.L175V	ADCY8_ENST00000377928.3_Missense_Mutation_p.L175V	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	175					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTTGGCCCAAGAAATAGCGC	0.547										HNSCC(32;0.087)																																							0													74	74	74					8																	132052057		2203	4300	6503	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"Adenylate cyclases"	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.523T>G	8.37:g.132052057A>C	ENSP00000286355:p.Leu175Val			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L175V	ENST00000286355.5	37	c.523	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	A	8.321	0.824230	0.16678	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.65178	-0.14;-0.14	5.25	3.42	0.39159	.	0.096354	0.43579	D	0.000560	T	0.45657	0.1353	L	0.40543	1.245	0.28529	N	0.91267	B;B	0.29037	0.231;0.231	B;B	0.26864	0.074;0.074	T	0.28554	-1.0040	10	0.14252	T	0.57	.	7.5538	0.27812	0.2753:0.0:0.7247:0.0	.	175;175	E7EVL1;P40145	.;ADCY8_HUMAN	V	175	ENSP00000286355:L175V;ENSP00000367161:L175V	ENSP00000286355:L175V	L	-	1	2	ADCY8	132121239	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	1.383000	0.34385	1.202000	0.43218	-0.475000	0.04921	TTG	ADCY8	-	NULL	ENSG00000155897		0.547	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	-	0	55	0	A			132052057	-1	tier1	-	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	18.18	63	14	SNP	1.000	C	C	132052057	A	C	132052057	3	2	97	1	0	0	0	0	1	0	0	0	300	69	3	4	3304	4	ADCY8	8	132052057	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	3623484	132052057	14311965	167	27779											
PTK2	5747	genome.wustl.edu	37	chr8	141810606	141810606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggttccattcaccagccGgcagtacccatctattaggt	9	10	9	13	2	2	0	1	0	1	0	3	1	3	0	4	3	2	3	4	3	3	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:141810606G>A	ENST00000522684.1	-	12	1274	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	PTK2_ENST00000521059.1_Missense_Mutation_p.R349W|PTK2_ENST00000517887.1_Missense_Mutation_p.R393W|PTK2_ENST00000395218.2_Missense_Mutation_p.R349W|PTK2_ENST00000538769.1_Missense_Mutation_p.R10W|PTK2_ENST00000519419.1_Missense_Mutation_p.R393W|PTK2_ENST00000340930.3_Missense_Mutation_p.R349W|PTK2_ENST00000535192.1_Missense_Mutation_p.R349W	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	349	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTCACCAGCCGGCAGTACCCA	0.468																																																	0													112	98	103					8																	141810606		2203	4300	6503	SO:0001583	missense	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9611	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 71"	600758	"PTK2 protein tyrosine kinase 2"			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1045C>T	8.37:g.141810606G>A	ENSP00000429911:p.Arg349Trp		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R349W	ENST00000522684.1	37	c.1045	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.576459|4.576459	0.86645|0.86645	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000519654|ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	.|T;T;T;T;T;T;T;D;T;T	.|0.81659	.|2.28;2.28;2.28;2.28;2.28;2.28;2.28;-1.52;2.28;2.28	5.72|5.72	5.72|5.72	0.89469|0.89469	.|FERM domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90752|0.90752	0.7097|0.7097	M|M	0.81112|0.81112	2.525|2.525	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.997;1.0;0.999;0.999;0.997;0.997	D|D	0.90942|0.90942	0.4798|0.4798	5|10	.|0.87932	.|D	.|0	.|.	20.244|20.244	0.98389|0.98389	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|349;10;256;349;371;349;260;10	.|B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q8N9D7	.|.;.;.;FAK1_HUMAN;.;.;.;.	L|W	359|349;349;393;349;259;349;256;10;14;349;10;393;13;167	.|ENSP00000429911:R349W;ENSP00000438009:R349W;ENSP00000429082:R393W;ENSP00000429474:R349W;ENSP00000378644:R349W;ENSP00000428492:R14W;ENSP00000341189:R349W;ENSP00000445742:R10W;ENSP00000429129:R393W;ENSP00000430603:R13W	.|ENSP00000341189:R349W	P|R	-|-	2|1	0|2	PTK2|PTK2	141879788|141879788	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	4.658000|4.658000	0.61497|0.61497	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CCG|CGG	PTK2	-	pfscan_FERM_domain	ENSG00000169398		0.468	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	-	0	46	0	G	NM_005607		141810606	-1	tier1	-	no_errors	ENST00000395218	ensembl	human	known	74_37	missense	7.69	84	7	SNP	1.000	A	A	141810606	G	A	141810606	3	1	97	1	0	0	0	0	1	0	0	0	12805	1115	39	1	2197	1	PTK2	8	141810606	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9758549	141810606	4553416	168	27780											
SHARPIN	81858	genome.wustl.edu	37	chr8	145154940	145154940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagacagggcatgcttctgGgcccaaggctggtggtgagt	7	8	18	8	0	1	2	0	1	1	1	1	3	1	2	1	6	1	3	1	6	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr8:145154940G>T	ENST00000398712.2	-	3	845	c.409C>A	c.(409-411)Cca>Aca	p.P137T	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	137	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGCTTCTGGGCCCAAGGCT	0.602																																																	0													216	226	223					8																	145154940		2168	4265	6433	SO:0001583	missense	0			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.409C>A	8.37:g.145154940G>T	ENSP00000381698:p.Pro137Thr		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.P137T	ENST00000398712.2	37	c.409	CCDS43777.1	8	.	.	.	.	.	.	.	.	.	.	G	8.892	0.954244	0.18431	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.47177	1.52;0.85	3.82	0.91	0.19337	.	1.077510	0.07192	N	0.855922	T	0.63873	0.2548	M	0.73598	2.24	0.09310	N	1	D	0.89917	1.0	D	0.83275	0.996	T	0.44406	-0.9330	10	0.72032	D	0.01	.	3.2708	0.06882	0.2282:0.0:0.567:0.2048	.	137	Q9H0F6	SHRPN_HUMAN	T	137	ENSP00000381698:P137T;ENSP00000352551:P137T	ENSP00000352551:P137T	P	-	1	0	SHARPIN	145226928	0.001000	0.12720	0.278000	0.24718	0.103000	0.19146	0.097000	0.15168	0.069000	0.16605	0.462000	0.41574	CCA	SHARPIN	-	NULL	ENSG00000179526		0.602	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	-	0	47	0	G	NM_030974		145154940	-1	tier1	-	no_errors	ENST00000398712	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.180	T	T	145154940	G	T	145154940	3	4	97	1	0	0	0	0	1	0	0	0	14312	1232	43	3	778	3	SHARPIN	8	145154940	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3344334	145154940	1209082	169	27781											
RFX3	5991	genome.wustl.edu	37	chr9	3270393	3270393	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaataggtctaaggacgtcGgggatgagaatctccaccaa	13	7	13	8	2	2	1	0	1	2	1	4	5	2	4	2	5	0	0	2	5	5	2	rs551991758		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:3270393G>T	ENST00000382004.3	-	12	1646	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	RFX3_ENST00000302303.1_Silent_p.P445P|RFX3_ENST00000358730.2_Silent_p.P445P	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	445					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TAAGGACGTCGGGGATGAGAA	0.438																																																	0													119	102	108					9																	3270393		2203	4300	6503	SO:0001819	synonymous_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1335C>A	9.37:g.3270393G>T			A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Silent	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.P445	ENST00000382004.3	37	c.1335	CCDS6449.1	9																																																																																			RFX3	-	NULL	ENSG00000080298		0.438	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	-	0	74	0	G	NM_002919		3270393	-1	tier1	-	no_errors	ENST00000382004	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	T	T	3270393	G	T	3270393	2	4	97	1	0	0	0	0	0	0	0	1	13309	1103	39	2		2	RFX3	9	3270393	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		3270393	137943038	170	27782											
GLDC	2731	genome.wustl.edu	37	chr9	6554686	6554686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactccgatgggccccatGccaggaccacctcctccgtg	7	7	9	18	2	0	0	0	0	0	0	3	2	3	1	8	2	2	0	8	2	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:6554686G>A	ENST00000321612.6	-	19	2448	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	766					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TGGGCCCCATGCCAGGACCAC	0.537																																																	0													52	45	47					9																	6554686		2203	4300	6503	SO:0001819	synonymous_variant	0			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"glycine cleavage system protein P", "glycine decarboxylase"	238300	"glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2298C>T	9.37:g.6554686G>A			Q2M2F8	Silent	SNP	pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	p.G766	ENST00000321612.6	37	c.2298	CCDS34987.1	9																																																																																			GLDC	-	pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo	ENSG00000178445		0.537	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDC	HGNC	protein_coding	OTTHUMT00000051674.2		0	70	0	G	NM_000170		6554686	-1			no_errors	ENST00000321612	ensembl	human	known	74_37	silent	5.00	76	4	SNP	1.000	A	A	6554686	G	A	6554686	2	1	97	1	0	0	0	0	0	0	0	1	6459	1306	46	3		3	GLDC	9	6554686	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3284293	6554686	134658745	171	27783											
FREM1	158326	genome.wustl.edu	37	chr9	14857655	14857655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgataacgaaggcccatcaGcaggaactcctcacagctca	13	6	8	14	1	3	1	3	1	0	0	4	3	4	2	2	2	4	2	2	2	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:14857655G>T	ENST00000380880.3	-	5	1507	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	FREM1_ENST00000380881.4_Missense_Mutation_p.L242M|FREM1_ENST00000422223.2_Missense_Mutation_p.L242M			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	242					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.L242L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCCATCAGCAGGAACTCC	0.468																																																	1	Substitution - coding silent(1)	endometrium(1)											156	152	154					9																	14857655		1894	4129	6023	SO:0001583	missense	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"chromosome 9 open reading frame 154"	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.724C>A	9.37:g.14857655G>T	ENSP00000370262:p.Leu242Met		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.L242M	ENST00000380880.3	37	c.724	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	11.21	1.572706	0.28092	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.10860	2.83;2.83;2.83	6.17	2.18	0.27775	.	0.354413	0.30879	N	0.008681	T	0.06280	0.0162	N	0.21583	0.68	0.23406	N	0.997744	B	0.20780	0.048	B	0.24006	0.05	T	0.29731	-1.0002	10	0.46703	T	0.11	-1.5572	3.0595	0.06195	0.1944:0.0984:0.5428:0.1644	.	242	Q5H8C1	FREM1_HUMAN	M	242	ENSP00000370263:L242M;ENSP00000412940:L242M;ENSP00000370262:L242M	ENSP00000370257:L242M	L	-	1	2	FREM1	14847655	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.982000	0.03762	0.501000	0.28013	0.655000	0.94253	CTG	FREM1	-	NULL	ENSG00000164946		0.468	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2		0	49	0	G	NM_144966		14857655	-1			no_errors	ENST00000380881	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.923	T	T	14857655	G	T	14857655	3	4	97	1	0	0	0	0	1	0	0	0	6068	962	34	3	5997	3	FREM1	9	14857655	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8302969	14857655	126355776	172	27784											
RRAGA	54801	genome.wustl.edu	37	chr9	19050221	19050221	+	IGR	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgttcagcagctggaGatgaacctcaggaattttgc	11	9	10	11	1	2	2	2	1	0	1	2	4	2	3	2	2	5	3	2	2	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:19050221G>T	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_Missense_Mutation_p.E188D	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCAGCTGGAGATGAACCTCA	0.488																																																	0													79	78	78					9																	19050221		2203	4300	6503	SO:0001628	intergenic_variant	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"HAUS augmin-like complex subunits"	25948	protein-coding gene	gene with protein product		613433	"family with sequence similarity 29, member A"	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050221G>T			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.E188D	ENST00000380502.3	37	c.564	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578586	0.65878	.	.	ENSG00000155876	ENST00000380527	T	0.68624	-0.34	4.92	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.82701	0.5094	M	0.92604	3.325	0.58432	D	0.999993	D	0.64830	0.994	D	0.68483	0.958	D	0.84989	0.0893	10	0.87932	D	0	-5.2745	9.2308	0.37437	0.1807:0.0:0.8193:0.0	.	188	Q7L523	RRAGA_HUMAN	D	188	ENSP00000369899:E188D	ENSP00000369899:E188D	E	+	3	2	RRAGA	19040221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.113000	0.41902	1.458000	0.47871	0.655000	0.94253	GAG	RRAGA	-	pfam_Gtr1_RagA,superfamily_P-loop_NTPase	ENSG00000155876		0.488	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGA	HGNC	protein_coding	OTTHUMT00000051825.1	-	0	37	0	G	NM_017645		19050221	1	tier1	-	no_errors	ENST00000380527	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	T	T	19050221	G	T	19050221	1	4	97	0	1	0	0	0	0	0	0	0	13717	933	33	3		3	RRAGA	9	19050221	IGR	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4192566	19050221	122163210	173	27785											
CDKN2A	1029	genome.wustl.edu	37	chr9	21974676	21974676	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgcagaccctctacccaCctggatcggcctccgaccgt	6	7	9	19	4	1	1	0	0	1	1	3	3	2	2	6	2	2	2	6	2	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:21974676C>A	ENST00000304494.5	-	1	421		c.e1+1		CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(14)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCTACCCACCTGGATCGGC	0.672		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1331	Whole gene deletion(1316)|Unknown(14)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(168)|central_nervous_system(163)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											92	108	102					9																	21974676		2203	4300	6503	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.150+1G>T	9.37:g.21974676C>A			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e1+1	ENST00000304494.5	37	c.150+1	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128722	0.37533	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	N	0.25031	0.7	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3226	0.87240	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21964676	1.000000	0.71417	0.997000	0.53966	0.109000	0.19521	5.477000	0.66799	2.681000	0.91329	0.655000	0.94253	.	CDKN2A	-	-	ENSG00000147889		0.672	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	52	0	C	NM_000077	Intron	21974676	-1	tier1	-	no_errors	ENST00000446177	ensembl	human	known	74_37	splice_site	73.68	5	14	SNP	1.000	A	A	21974676	C	A	21974676	5	1	97	1	0	0	0	0	0	0	1	0	3168	521	18	3	532	3	CDKN2A	9	21974676	Splice_Site	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2924455	21974676	119238755	174	27786											
TRPM6	140803	genome.wustl.edu	37	chr9	77377027	77377027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaaaggatgtgtttggCtgaagccatggtcccacctc	10	10	10	11	0	0	1	0	1	0	0	3	2	2	2	4	3	1	2	4	3	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:77377027C>A	ENST00000360774.1	-	26	4797	c.4560G>T	c.(4558-4560)caG>caT	p.Q1520H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1515H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1515H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1520H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1520H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1520					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATGTGTTTGGCTGAAGCCATG	0.488																																																	0													120	111	114					9																	77377027		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4560G>T	9.37:g.77377027C>A	ENSP00000354006:p.Gln1520His		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Q1520H	ENST00000360774.1	37	c.4560	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	6.607	0.480415	0.12581	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864	T;T;T;T;T	0.54675	0.65;0.65;0.65;0.65;0.56	5.33	3.38	0.38709	.	1.111390	0.06742	N	0.778598	T	0.44074	0.1276	L	0.48362	1.52	0.09310	N	0.999995	B;B;B	0.14438	0.006;0.004;0.01	B;B;B	0.16289	0.007;0.006;0.015	T	0.44034	-0.9354	10	0.87932	D	0	.	1.9492	0.03363	0.1636:0.5042:0.1582:0.174	.	1520;1515;1515	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	H	1520;1520;1515;1515;1520	ENSP00000354006:Q1520H;ENSP00000407341:Q1520H;ENSP00000396672:Q1515H;ENSP00000354962:Q1515H;ENSP00000366060:Q1520H	ENSP00000354006:Q1520H	Q	-	3	2	TRPM6	76566847	0.821000	0.29204	0.283000	0.24790	0.462000	0.32619	0.217000	0.17603	1.249000	0.43950	0.655000	0.94253	CAG	TRPM6	-	NULL	ENSG00000119121		0.488	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	-	0	37	0	C	NM_017662		77377027	-1	tier1	-	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	9.76	74	8	SNP	0.306	A	A	77377027	C	A	77377027	3	1	97	1	0	0	0	0	1	0	0	0	16638	796	28	3	1564	3	TRPM6	9	77377027	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	55402351	77377027	63836404	175	27787											
GRIN3A	116443	genome.wustl.edu	37	chr9	104385674	104385674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacttcataatccagaaggGctttgtccatgatgaaggcg	12	10	10	9	1	1	3	1	2	0	1	3	3	3	3	2	2	0	1	2	2	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:104385674G>A	ENST00000361820.3	-	5	3140	c.2540C>T	c.(2539-2541)gCc>gTc	p.A847V		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	847					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATCCAGAAGGGCTTTGTCCAT	0.403																																																	0													170	152	158					9																	104385674		2203	4300	6503	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2540C>T	9.37:g.104385674G>A	ENSP00000355155:p.Ala847Val		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.A847V	ENST00000361820.3	37	c.2540	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.143713	0.94603	.	.	ENSG00000198785	ENST00000361820	T	0.26373	1.74	5.72	5.72	0.89469	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.060559	0.64402	D	0.000004	T	0.50017	0.1591	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.44907	-0.9297	10	0.72032	D	0.01	.	19.8937	0.96942	0.0:0.0:1.0:0.0	.	847	Q8TCU5	NMD3A_HUMAN	V	847	ENSP00000355155:A847V	ENSP00000355155:A847V	A	-	2	0	GRIN3A	103425495	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.716000	0.92895	0.650000	0.86243	GCC	GRIN3A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000198785		0.403	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	-	0	42	0	G			104385674	-1	tier1	-	no_errors	ENST00000361820	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	A	A	104385674	G	A	104385674	3	1	97	1	0	0	0	0	1	0	0	0	6810	1203	42	3	827	3	GRIN3A	9	104385674	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	27008647	104385674	36827757	176	27788											
EPB41L4B	54566	genome.wustl.edu	37	chr9	111962585	111962585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttttccacagctggctggGcagtttccacacgaatagga	9	10	11	11	1	0	0	0	0	0	0	2	2	2	1	2	3	1	5	2	3	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:111962585G>A	ENST00000374566.3	-	20	2493	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	659					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCTGGCTGGGCAGTTTCCAC	0.423																																																	0													88	85	86					9																	111962585		1889	4122	6011	SO:0001583	missense	0			AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.1976C>T	9.37:g.111962585G>A	ENSP00000363694:p.Ala659Val		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.A659V	ENST00000374566.3	37	c.1976	CCDS43859.1	9	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081408	0.55753	.	.	ENSG00000095203	ENST00000262536;ENST00000374566	D	0.84070	-1.8	5.61	5.61	0.85477	.	0.489496	0.15357	N	0.266623	T	0.72637	0.3485	N	0.14661	0.345	0.80722	D	1	B	0.24483	0.104	B	0.22386	0.039	T	0.68511	-0.5389	10	0.48119	T	0.1	.	15.1379	0.72583	0.0:0.0:1.0:0.0	.	659	Q9H329	E41LB_HUMAN	V	344;659	ENSP00000363694:A659V	ENSP00000262536:A344V	A	-	2	0	EPB41L4B	111002406	0.999000	0.42202	0.959000	0.39883	0.700000	0.40528	3.761000	0.55242	2.631000	0.89168	0.655000	0.94253	GCC	EPB41L4B	-	NULL	ENSG00000095203		0.423	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L4B	HGNC	protein_coding	OTTHUMT00000053592.1	-	0	66	0	G	NM_018424		111962585	-1	tier1	-	no_errors	ENST00000374566	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.742	A	A	111962585	G	A	111962585	3	1	97	1	0	0	0	0	1	0	0	0	5172	1203	42	3	754	3	EPB41L4B	9	111962585	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7576911	111962585	29250846	177	27789											
KIF12	113220	genome.wustl.edu	37	chr9	116857592	116857592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttccgctgtgggtccaGcagcagggagatgcagtgac	7	8	15	11	1	0	2	0	1	0	1	2	3	2	2	2	2	4	5	2	2	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:116857592G>A	ENST00000374118.3	-	7	739	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	301	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTGGGTCCAGCAGCAGGGAG	0.607																																																	0													41	34	37					9																	116857592		2203	4300	6503	SO:0001819	synonymous_variant	0			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"Kinesins"	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.502C>T	9.37:g.116857592G>A			Q5TBE0	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L168	ENST00000374118.3	37	c.502	CCDS6801.1	9																																																																																			KIF12	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom	ENSG00000136883		0.607	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1		0	18	0	G	NM_138424		116857592	-1			no_errors	ENST00000374118	ensembl	human	known	74_37	silent	20.00	8	2	SNP	1.000	A	A	116857592	G	A	116857592	2	1	97	1	0	0	0	0	0	0	0	1	8300	962	34	3		3	KIF12	9	116857592	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4895007	116857592	24355839	178	27790											
MAPKAP1	79109	genome.wustl.edu	37	chr9	128347888	128347888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcagatgagcccgatcAggtcctgcaccctggcgctg	7	6	13	15	2	1	2	1	1	0	1	2	3	2	2	4	2	3	3	4	2	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:128347888A>G	ENST00000373498.1	-	4	685	c.617T>C	c.(616-618)cTg>cCg	p.L206P	MAPKAP1_ENST00000373503.3_Missense_Mutation_p.L14P|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.L206P|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.L14P|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.L206P|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.L206P|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.L206P|MAPKAP1_ENST00000373497.5_Missense_Mutation_p.L14P			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	206	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GAGCCCGATCAGGTCCTGCAC	0.542																																																	0													163	121	135					9																	128347888		2203	4300	6503	SO:0001583	missense	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"stress-activated protein kinase-interacting 1"	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.617T>C	9.37:g.128347888A>G	ENSP00000362597:p.Leu206Pro		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	pfam_SIN1	p.L206P	ENST00000373498.1	37	c.617	CCDS35140.1	9	.	.	.	.	.	.	.	.	.	.	A	23.1	4.369015	0.82463	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373503;ENST00000373498;ENST00000265960;ENST00000394063;ENST00000373505;ENST00000373497;ENST00000420643;ENST00000394060;ENST00000427078;ENST00000468896	.	.	.	5.86	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	M	0.80422	2.495	0.48762	D	0.999703	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.995;0.999;0.999;0.983;0.992;0.987	T	0.79685	-0.1700	9	0.62326	D	0.03	-9.2171	11.2102	0.48793	0.9285:0.0:0.0715:0.0	.	14;206;206;206;206;206	B7Z5E5;Q9BPZ7-6;Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;.;.;SIN1_HUMAN	P	206;206;14;206;206;14;208;14;14;206;14;107	.	ENSP00000265960:L206P	L	-	2	0	MAPKAP1	127387709	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.450000	0.80656	1.040000	0.40099	0.533000	0.62120	CTG	MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.542	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1		0	46	0	A			128347888	-1			no_errors	ENST00000265960	ensembl	human	known	74_37	missense	5.33	70	4	SNP	1.000	G	G	128347888	A	G	128347888	3	3	97	1	0	0	0	0	1	0	0	0	9326	188	7	4	1001	4	MAPKAP1	9	128347888	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	11490296	128347888	12865543	179	27791											
LRRC8A	56262	genome.wustl.edu	37	chr9	131670745	131670745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagctgcacctgttcatGctcagtggcatccctgacac	7	10	10	14	0	2	1	2	1	0	0	3	2	3	2	2	2	3	5	2	2	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:131670745G>T	ENST00000259324.5	+	3	1825	c.1302G>T	c.(1300-1302)atG>atT	p.M434I	LRRC8A_ENST00000372599.3_Missense_Mutation_p.M434I|LRRC8A_ENST00000372600.4_Missense_Mutation_p.M434I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	434					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ACCTGTTCATGCTCAGTGGCA	0.617																																																	0													36	34	35					9																	131670745		2203	4300	6503	SO:0001583	missense	0			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"leucine rich repeat containing 8"	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1302G>T	9.37:g.131670745G>T	ENSP00000259324:p.Met434Ile		Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.M434I	ENST00000259324.5	37	c.1302	CCDS35155.1	9	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582284	0.65992	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.19394	2.15;2.15;2.15	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	M	0.74258	2.255	0.80722	D	1	D	0.61080	0.989	D	0.68483	0.958	T	0.45542	-0.9254	10	0.56958	D	0.05	.	18.1064	0.89521	0.0:0.0:1.0:0.0	.	434	Q8IWT6	LRC8A_HUMAN	I	434	ENSP00000361682:M434I;ENSP00000361680:M434I;ENSP00000259324:M434I	ENSP00000259324:M434I	M	+	3	0	LRRC8A	130710566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.595000	0.87683	0.561000	0.74099	ATG	LRRC8A	-	NULL	ENSG00000136802		0.617	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2		0	11	0	G	NM_019594		131670745	1			no_errors	ENST00000259324	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	131670745	G	T	131670745	3	4	97	1	0	0	0	0	1	0	0	0	9056	1319	46	3	1304	3	LRRC8A	9	131670745	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3322857	131670745	9542686	180	27792											
EXOSC2	23404	genome.wustl.edu	37	chr9	133579120	133579120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaataatggaggagattGtgatggaaacacgccagagg	16	6	14	5	1	0	4	0	1	0	3	0	7	0	6	1	4	1	0	1	4	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:133579120G>T	ENST00000372358.5	+	9	912	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	EXOSC2_ENST00000546165.1_Missense_Mutation_p.V255L|EXOSC2_ENST00000372352.3_Missense_Mutation_p.V273L|EXOSC2_ENST00000372351.3_Missense_Mutation_p.V251L|EXOSC2_ENST00000467138.1_3'UTR			Q13868	EXOS2_HUMAN	exosome component 2	281					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		GGAGGAGATTGTGATGGAAAC	0.463																																					Pancreas(134;1683 1824 10118 27928 31640)												0													141	152	148					9																	133579120		2203	4300	6503	SO:0001583	missense	0			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.841G>T	9.37:g.133579120G>T	ENSP00000361433:p.Val281Leu		A3KFL3|B4DKK6|Q9NUY4	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold	p.V281L	ENST00000372358.5	37	c.841	CCDS6935.1	9	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900966	0.33535	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372351;ENST00000495699	.	.	.	5.97	3.13	0.36017	.	0.178632	0.48286	D	0.000187	T	0.52948	0.1766	L	0.55103	1.725	0.46396	D	0.999021	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.41378	-0.9512	9	0.23891	T	0.37	-21.0016	10.0683	0.42317	0.2191:0.0:0.7809:0.0	.	255;281	B4DKK6;Q13868	.;EXOS2_HUMAN	L	281;255;273;251;258	.	ENSP00000361426:V251L	V	+	1	0	EXOSC2	132568941	1.000000	0.71417	0.994000	0.49952	0.914000	0.54420	4.774000	0.62339	0.403000	0.25479	-0.150000	0.13652	GTG	EXOSC2	-	NULL	ENSG00000130713		0.463	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC2	HGNC	protein_coding	OTTHUMT00000054673.1		0	48	0	G	NM_014285		133579120	1			no_errors	ENST00000372358	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	133579120	G	T	133579120	3	4	97	1	0	0	0	0	1	0	0	0	5331	1377	48	3	875	3	EXOSC2	9	133579120	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1908375	133579120	7634311	181	27793											
RALGDS	5900	genome.wustl.edu	37	chr9	135977460	135977460	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtaggggccacacctGagctggtcacaggacttgga	9	7	15	10	0	1	2	1	2	0	0	1	4	1	4	2	6	1	2	2	6	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:135977460G>T	ENST00000372050.3	-	15	2097	c.2076C>A	c.(2074-2076)ctC>ctA	p.L692L	RALGDS_ENST00000372062.3_Silent_p.L663L|RALGDS_ENST00000542690.1_Silent_p.L763L|RALGDS_ENST00000372047.3_Silent_p.L680L|RALGDS_ENST00000393157.3_Silent_p.L691L|RALGDS_ENST00000393160.3_Silent_p.L637L|RALGDS_ENST00000469972.1_5'UTR	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	692					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGCCACACCTGAGCTGGTCAC	0.637			T	CIITA	"PMBL, Hodgkin Lymphona, "																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													32	29	30					9																	135977460		2191	4282	6473	SO:0001819	synonymous_variant	0			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2076C>A	9.37:g.135977460G>T			B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L763	ENST00000372050.3	37	c.2289	CCDS6959.1	9																																																																																			RALGDS	-	NULL	ENSG00000160271		0.637	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	-	0	61	0	G	NM_006266		135977460	-1	tier1	-	no_errors	ENST00000542690	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.997	T	T	135977460	G	T	135977460	2	4	97	1	0	0	0	0	0	0	0	1	13061	1277	45	3		3	RALGDS	9	135977460	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2398340	135977460	5235971	182	27794											
COL5A1	1289	genome.wustl.edu	37	chr9	137620555	137620555	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgagacctattactacGaatacccctactacgaagac	14	8	8	11	2	0	2	0	1	0	2	0	5	0	2	3	1	5	0	3	1	8	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:137620555G>T	ENST00000371817.3	+	6	1240	c.826G>T	c.(826-828)Gaa>Taa	p.E276*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	276	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.E276K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTATTACTACGAATACCCCTA	0.607																																																	1	Substitution - Missense(1)	endometrium(1)											130	137	135					9																	137620555		2203	4300	6503	SO:0001587	stop_gained	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"Collagens"	2209	protein-coding gene	gene with protein product	"alpha 1 type V collagen"	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.826G>T	9.37:g.137620555G>T	ENSP00000360882:p.Glu276*		Q15094|Q5SUX4	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.E276*	ENST00000371817.3	37	c.826	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.821937	0.98507	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.24	4.24	0.50183	.	0.782790	0.11018	U	0.608728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	.	16.6111	0.84883	0.0:0.0:1.0:0.0	.	.	.	.	X	276	.	ENSP00000360882:E276X	E	+	1	0	COL5A1	136760376	1.000000	0.71417	0.997000	0.53966	0.223000	0.24884	8.346000	0.90060	1.899000	0.54978	0.462000	0.41574	GAA	COL5A1	-	NULL	ENSG00000130635		0.607	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0	115	0	G	NM_000093		137620555	1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	nonsense	5.32	89	5	SNP	1.000	T	T	137620555	G	T	137620555	4	4	97	1	0	0	0	0	0	1	0	0	3703	1059	37	2	848	2	COL5A1	9	137620555	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1643095	137620555	3592876	183	27795											
OLFM1	10439	genome.wustl.edu	37	chr9	137987773	137987773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagagacttgcagtacGtggagaagatggagaaccaa	15	5	13	8	1	0	5	0	0	0	5	0	8	0	5	2	2	3	2	2	2	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:137987773G>A	ENST00000371793.3	+	3	615	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	OLFM1_ENST00000371796.3_Missense_Mutation_p.V95M|OLFM1_ENST00000252854.4_Missense_Mutation_p.V104M|OLFM1_ENST00000392991.4_Missense_Mutation_p.V122M|OLFM1_ENST00000277415.11_Missense_Mutation_p.V104M	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	122					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CTTGCAGTACGTGGAGAAGAT	0.498																																																	0													207	166	180					9																	137987773		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.364G>A	9.37:g.137987773G>A	ENSP00000360858:p.Val122Met		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.V122M	ENST00000371793.3	37	c.364		9	.	.	.	.	.	.	.	.	.	.	g	21.6	4.169843	0.78452	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000392991;ENST00000371793;ENST00000539877	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.59	4.59	0.56863	.	0.061104	0.64402	D	0.000004	T	0.69424	0.3109	L	0.58810	1.83	0.45066	D	0.99808	D;D;D;D	0.89917	0.981;1.0;0.983;0.999	P;D;P;D	0.79108	0.705;0.992;0.861;0.942	T	0.72760	-0.4196	10	0.59425	D	0.04	.	17.5086	0.87754	0.0:0.0:1.0:0.0	.	122;122;104;104	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	M	104;104;111;95;39;122;122;19	ENSP00000277415:V104M;ENSP00000252854:V104M;ENSP00000340318:V111M;ENSP00000360861:V95M;ENSP00000444296:V39M;ENSP00000376717:V122M;ENSP00000360858:V122M;ENSP00000443806:V19M	ENSP00000252854:V104M	V	+	1	0	OLFM1	137127594	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.807000	0.86032	2.138000	0.66242	0.627000	0.83407	GTG	OLFM1	-	pfam_Noelin-1	ENSG00000130558		0.498	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0	53	0	G	NM_014279		137987773	1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	11.11	47	6	SNP	1.000	A	A	137987773	G	A	137987773	3	1	97	1	0	0	0	0	1	0	0	0	10891	1145	40	1	320	1	OLFM1	9	137987773	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	367218	137987773	3225658	184	27796											
EXD3	54932	genome.wustl.edu	37	chr9	140245931	140245931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccgaggccggcccccaGcaacaaacacaggtgtccac	11	2	11	17	3	0	0	0	0	0	0	1	1	1	0	5	4	3	1	5	4	2	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:140245931G>A	ENST00000340951.4	-	13	1418	c.1223C>T	c.(1222-1224)gCt>gTt	p.A408V	EXD3_ENST00000342129.4_Missense_Mutation_p.A88V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCGGCCCCCAGCAACAAACAC	0.637																																																	0													16	21	19					9																	140245931		2031	4171	6202	SO:0001583	missense	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1223C>T	9.37:g.140245931G>A	ENSP00000340474:p.Ala408Val		Q6P1M1|Q8IXT8	Missense_Mutation	SNP	pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.A408V	ENST00000340951.4	37	c.1223	CCDS48066.1	9	.	.	.	.	.	.	.	.	.	.	g	8.830	0.939596	0.18281	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.62639	0.01;0.01	3.9	0.12	0.14691	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.739986	0.12958	N	0.425277	T	0.39682	0.1087	N	0.20483	0.58	0.09310	N	1	B;B	0.17852	0.024;0.023	B;B	0.15052	0.007;0.012	T	0.17228	-1.0376	10	0.29301	T	0.29	.	4.8571	0.13564	0.2397:0.3321:0.4281:0.0	.	88;408	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	V	88;408	ENSP00000343705:A88V;ENSP00000340474:A408V	ENSP00000340474:A408V	A	-	2	0	EXD3	139365752	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.818000	0.01717	0.120000	0.18254	0.290000	0.19541	GCT	EXD3	-	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	ENSG00000187609		0.637	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	-	0	62	0	G	NM_017820		140245931	-1	tier1	-	no_errors	ENST00000340951	ensembl	human	known	74_37	missense	19.40	54	13	SNP	0.000	A	A	140245931	G	A	140245931	3	1	97	1	0	0	0	0	1	0	0	0	5315	971	34	3	1447	3	EXD3	9	140245931	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2258158	140245931	967500	185	27797											
EHMT1	79813	genome.wustl.edu	37	chr9	140611554	140611554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggagtgctgacacagagGacaggaagctcccggcccct	10	4	15	12	1	0	2	0	1	0	1	1	5	1	5	3	5	2	2	3	5	1	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr9:140611554G>T	ENST00000460843.1	+	3	589	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.D188Y|EHMT1_ENST00000334856.6_Missense_Mutation_p.D157Y	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	188					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGACACAGAGGACAGGAAGCT	0.642																																																	0													28	32	31					9																	140611554		2189	4271	6460	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.562G>T	9.37:g.140611554G>T	ENSP00000417980:p.Asp188Tyr		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.D188Y	ENST00000460843.1	37	c.562	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	g	13.74	2.327921	0.41197	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70164	1.64;0.88;-0.46	5.82	2.84	0.33178	.	0.556518	0.18593	N	0.136668	T	0.53948	0.1828	L	0.44542	1.39	0.09310	N	1	P;P;P	0.50272	0.5;0.865;0.933	B;B;B	0.40375	0.126;0.327;0.298	T	0.51513	-0.8696	10	0.56958	D	0.05	.	7.6854	0.28538	0.2083:0.1339:0.6578:0.0	.	188;157;188	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	Y	157;157;188;188	ENSP00000334476:D157Y;ENSP00000417328:D188Y;ENSP00000417980:D188Y	ENSP00000334476:D157Y	D	+	1	0	EHMT1	139731375	0.994000	0.37717	0.168000	0.22838	0.799000	0.45148	2.363000	0.44178	1.480000	0.48289	0.639000	0.83563	GAC	EHMT1	-	NULL	ENSG00000181090		0.642	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2		0	63	0	G	NM_024757		140611554	1			no_errors	ENST00000460843	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.017	T	T	140611554	G	T	140611554	3	4	97	1	0	0	0	0	1	0	0	0	4997	1174	41	3	572	3	EHMT1	9	140611554	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	365623	140611554	601877	186	27798											
NEBL	10529	genome.wustl.edu	37	chr10	21250693	21250693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgctttcttcaaaatCtcttttgtacttgacctaac	8	18	3	12	0	3	1	1	1	2	0	4	1	3	1	2	0	3	2	2	0	4	8			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:21250693C>A	ENST00000417816.2	-	4	618	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	NEBL_ENST00000377159.4_Missense_Mutation_p.D55Y	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	753					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.D89N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCTTCAAAATCTCTTTTGTAC	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											149	139	143					10																	21250693		2203	4300	6503	SO:0001583	missense	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000417816.2:c.265G>T	10.37:g.21250693C>A	ENSP00000393896:p.Asp89Tyr		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.D89Y	ENST00000417816.2	37	c.265	CCDS7133.1	10	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720599	0.89205	.	.	ENSG00000078114	ENST00000417816;ENST00000377159	T;T	0.56275	0.47;0.47	5.42	5.42	0.78866	.	.	.	.	.	T	0.77032	0.4071	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.80341	-0.1423	9	0.87932	D	0	.	19.5873	0.95495	0.0:1.0:0.0:0.0	.	89	Q70I54	.	Y	89;55	ENSP00000393896:D89Y;ENSP00000366364:D55Y	ENSP00000366364:D55Y	D	-	1	0	NEBL	21290699	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.671000	0.83941	2.702000	0.92279	0.650000	0.86243	GAT	NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000078114		0.488	NEBL-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047112.1		0	25	0	C	NM_006393		21250693	-1			no_errors	ENST00000417816	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	A	A	21250693	C	A	21250693	3	1	97	1	0	0	0	0	1	0	0	0	10342	913	32	3	3252	3	NEBL	10	21250693	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09		21250693	114284054	187	27799											
EPC1	80314	genome.wustl.edu	37	chr10	32573915	32573915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgttgtggtgaggaaagCatttccaaatccagatggtg	12	11	13	5	0	0	2	0	1	0	1	2	4	2	3	2	3	1	2	2	3	3	2	rs375175947		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:32573915C>A	ENST00000263062.8	-	10	1724	c.1455G>T	c.(1453-1455)atG>atT	p.M485I	EPC1_ENST00000319778.6_Missense_Mutation_p.M485I|EPC1_ENST00000375110.2_Missense_Mutation_p.M435I|RP11-166N17.3_ENST00000419441.1_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	485					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GTGAGGAAAGCATTTCCAAAT	0.378																																																	0													118	113	115					10																	32573915		2203	4300	6503	SO:0001583	missense	0			AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1455G>T	10.37:g.32573915C>A	ENSP00000263062:p.Met485Ile		B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.M485I	ENST00000263062.8	37	c.1455	CCDS7172.1	10	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458689	0.26248	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	T;T;T	0.16597	2.33;2.33;2.33	5.98	4.14	0.48551	.	0.375516	0.37623	N	0.002015	T	0.08044	0.0201	N	0.04297	-0.235	0.36069	D	0.841972	B;B;B	0.23058	0.004;0.079;0.004	B;B;B	0.16289	0.002;0.015;0.014	T	0.23084	-1.0198	10	0.22706	T	0.39	-1.0251	12.7814	0.57479	0.0:0.8675:0.0:0.1325	.	435;485;485	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	I	435;485;485	ENSP00000364251:M435I;ENSP00000318559:M485I;ENSP00000263062:M485I	ENSP00000263062:M485I	M	-	3	0	EPC1	32613921	0.998000	0.40836	1.000000	0.80357	0.967000	0.64934	0.973000	0.29422	0.871000	0.35750	-0.150000	0.13652	ATG	EPC1	-	NULL	ENSG00000120616		0.378	EPC1-004	KNOWN	basic|CCDS	protein_coding	EPC1	HGNC	protein_coding	OTTHUMT00000047484.1	-	0	44	0	C			32573915	-1	tier1	-	no_errors	ENST00000263062	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	32573915	C	A	32573915	3	1	97	1	0	0	0	0	1	0	0	0	5176	710	25	3	1079	3	EPC1	10	32573915	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	11323222	32573915	102960832	188	27800											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37505290	37505290	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacagttagagaaccaaaaAgttaaatgggaacaagagct	19	7	9	6	0	1	2	1	0	0	2	1	4	1	3	1	1	3	3	1	1	8	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:37505290A>C	ENST00000602533.1	+	32	2982	c.2883A>C	c.(2881-2883)aaA>aaC	p.K961N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K1080N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K961N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1017					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAACCAAAAAGTTAAATGGG	0.308																																																	0													77	78	78					10																	37505290		1831	4078	5909	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2883A>C	10.37:g.37505290A>C	ENSP00000473551:p.Lys961Asn		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K961N	ENST00000602533.1	37	c.2883		10	.	.	.	.	.	.	.	.	.	.	a	1.970	-0.436851	0.04636	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.26373	1.74;1.74	2.63	1.43	0.22495	.	.	.	.	.	T	0.21674	0.0522	M	0.61703	1.905	0.09310	N	1	B	0.26081	0.141	B	0.23018	0.043	T	0.31668	-0.9935	9	0.49607	T	0.09	.	2.0709	0.03614	0.5876:0.0:0.152:0.2603	.	1017	Q9BXX3	AN30A_HUMAN	N	961;1080	ENSP00000354432:K961N;ENSP00000363792:K1080N	ENSP00000354432:K961N	K	+	3	2	ANKRD30A	37545296	0.108000	0.22018	0.003000	0.11579	0.006000	0.05464	0.383000	0.20651	0.121000	0.18284	0.260000	0.18958	AAA	ANKRD30A	-	NULL	ENSG00000148513		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	62	0	A	NM_052997		37505290	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	missense	42.86	36	27	SNP	0.146	C	C	37505290	A	C	37505290	3	2	97	1	0	0	0	0	1	0	0	0	658	69	3	4	3009	4	ANKRD30A	10	37505290	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	4931375	37505290	98029457	189	27801											
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43651097	43651097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggtctcactcgccatcCtgaagaaaagccagttagaa	14	8	9	10	1	1	3	1	1	1	2	4	3	2	3	3	1	1	1	3	1	6	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:43651097C>T	ENST00000374466.3	+	2	835	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.P167L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	167					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTCGCCATCCTGAAGAAAAG	0.408																																																	0													94	94	94					10																	43651097		2203	4300	6503	SO:0001583	missense	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.500C>T	10.37:g.43651097C>T	ENSP00000363590:p.Pro167Leu		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.P167L	ENST00000374466.3	37	c.500	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454231	0.84209	.	.	ENSG00000169826	ENST00000374466;ENST00000374464	T;T	0.15139	2.45;2.45	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.51196	-0.8736	10	0.87932	D	0	-12.5311	20.0637	0.97700	0.0:1.0:0.0:0.0	.	167;167	Q8N6G5;Q8N6G5-2	CGAT2_HUMAN;.	L	167	ENSP00000363590:P167L;ENSP00000363588:P167L	ENSP00000363588:P167L	P	+	2	0	CSGALNACT2	42971103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.751000	0.94390	0.650000	0.86243	CCT	CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	-	0	70	0	C	NM_018590		43651097	1	tier1	-	no_errors	ENST00000374466	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	43651097	C	T	43651097	3	4	97	1	0	0	0	0	1	0	0	0	3948	681	24	3	502	3	CSGALNACT2	10	43651097	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	6145807	43651097	91883650	190	27802											
MARCH8	220972	genome.wustl.edu	37	chr10	45953829	45953829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaaaatattctttttgCttgtttctggacagttttga	9	21	6	5	0	3	1	1	1	2	0	3	2	3	2	0	1	1	3	0	1	3	9			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:45953829C>T	ENST00000319836.3	-	7	1483	c.734G>A	c.(733-735)aGc>aAc	p.S245N	MARCH8_ENST00000395769.2_Missense_Mutation_p.S245N|MARCH8_ENST00000453424.2_Missense_Mutation_p.S527N|MARCH8_ENST00000395771.3_Missense_Mutation_p.S245N|MARCH8_ENST00000476962.1_5'UTR	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	245					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATTCTTTTTGCTTGTTTCTGG	0.348																																					NSCLC(102;658 1594 2173 16344 34808)												0													140	146	144					10																	45953829		2203	4300	6503	SO:0001583	missense	0			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	23356	protein-coding gene	gene with protein product		613335	"c-mir, cellular modulator of immune recognition", "membrane-associated ring finger (C3HC4) 8"	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.734G>A	10.37:g.45953829C>T	ENSP00000317087:p.Ser245Asn		B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.S245N	ENST00000319836.3	37	c.734	CCDS7213.1	10	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092272	0.55968	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769	T;T;T	0.12465	2.68;2.68;2.68	5.67	4.75	0.60458	.	0.110385	0.64402	D	0.000007	T	0.11537	0.0281	L	0.34521	1.04	0.34071	D	0.658493	B;P	0.43826	0.437;0.818	B;B	0.40565	0.096;0.333	T	0.22312	-1.0220	10	0.19590	T	0.45	-15.435	13.6506	0.62308	0.1558:0.8442:0.0:0.0	.	245;409	Q5T0T0;Q5JQ16	MARH8_HUMAN;.	N	245	ENSP00000379118:S245N;ENSP00000317087:S245N;ENSP00000379116:S245N	ENSP00000317087:S245N	S	-	2	0	MARCH8	45273835	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.508000	0.67006	1.359000	0.45940	0.655000	0.94253	AGC	MARCH8	-	NULL	ENSG00000165406		0.348	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH8	HGNC	protein_coding	OTTHUMT00000051217.1	-	0	95	0	C	NM_145021		45953829	-1	tier1	-	no_errors	ENST00000319836	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	45953829	C	T	45953829	3	4	97	1	0	0	0	0	1	0	0	0	9345	797	28	3	145	3	MARCH8	10	45953829	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2302732	45953829	89580918	191	27803											
MBL2	4153	genome.wustl.edu	37	chr10	54529049	54529049	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgcagagcttttctttCtgaggcagccaggctactat	7	15	10	9	0	2	2	0	1	2	1	2	2	2	2	1	2	4	5	1	2	2	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:54529049C>A	ENST00000373968.3	-	3	395	c.331G>T	c.(331-333)Gaa>Taa	p.E111*		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	111					acute-phase response (GO:0006953)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|killing by host of symbiont cells (GO:0051873)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of viral process (GO:0048525)|opsonization (GO:0008228)|positive regulation of phagocytosis (GO:0050766)|response to oxidative stress (GO:0006979)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium-dependent protein binding (GO:0048306)|mannose binding (GO:0005537)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCTTTTCTTTCTGAGGCAGCC	0.408																																																	0													124	130	128					10																	54529049		2202	4300	6502	SO:0001587	stop_gained	0			AF360991	CCDS7247.1	10q11.2	2014-09-17	2011-02-02		ENSG00000165471	ENSG00000165471		"Collectins"	6922	protein-coding gene	gene with protein product		154545	"mannose-binding lectin (protein C) 2, soluble (opsonic defect)"	MBL		1675710, 1672848	Standard	NM_000242		Approved	COLEC1	uc001jjt.3	P11226	OTTHUMG00000150270	ENST00000373968.3:c.331G>T	10.37:g.54529049C>A	ENSP00000363079:p.Glu111*		Q4VB12|Q4VB13|Q4VB14|Q5SQS3|Q86SI4|Q96KE4|Q96TF7|Q96TF8|Q96TF9	Nonsense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E111*	ENST00000373968.3	37	c.331	CCDS7247.1	10	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086842	0.55861	.	.	ENSG00000165471	ENST00000373968	.	.	.	4.32	2.46	0.29980	.	0.432373	0.21865	N	0.067976	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-7.2338	6.6176	0.22786	0.0:0.7869:0.0:0.2131	.	.	.	.	X	111	.	ENSP00000363079:E111X	E	-	1	0	MBL2	54199055	0.089000	0.21612	0.015000	0.15790	0.020000	0.10135	1.521000	0.35910	0.756000	0.33013	0.655000	0.94253	GAA	MBL2	-	NULL	ENSG00000165471		0.408	MBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBL2	HGNC	protein_coding	OTTHUMT00000048115.1		0	49	0	C	NM_000242		54529049	-1			no_errors	ENST00000373968	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	0.021	A	A	54529049	C	A	54529049	4	1	97	1	0	0	0	0	0	1	0	0	9388	922	32	3	423	3	MBL2	10	54529049	Nonsense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	8575220	54529049	81005698	192	27804											
PCDH15	65217	genome.wustl.edu	37	chr10	55626441	55626441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcccttcccatagtcGtcagttgcaataacttgaaa	11	12	6	12	1	2	1	2	1	0	0	5	1	4	1	2	0	2	2	2	0	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:55626441G>T	ENST00000320301.6	-	27	4072	c.3678C>A	c.(3676-3678)gaC>gaA	p.D1226E	PCDH15_ENST00000395432.2_Missense_Mutation_p.D1189E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1233E|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1231E|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1204E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1233E|PCDH15_ENST00000409834.1_Missense_Mutation_p.D837E|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1226E|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1226E|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1155E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1226E|PCDH15_ENST00000373957.3_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1226	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCCATAGTCGTCAGTTGCAA	0.413										HNSCC(58;0.16)																																							0													127	109	115					10																	55626441		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3678C>A	10.37:g.55626441G>T	ENSP00000322604:p.Asp1226Glu		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D1226E	ENST00000320301.6	37	c.3678	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724194	0.68959	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.47	-2.71	0.05986	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88280	0.6394	M	0.83692	2.655	0.52501	D	0.99995	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D	0.87899	0.2689	9	0.87932	D	0	.	13.1107	0.59270	0.6153:0.0:0.3847:0.0	.	1204;1226;1226;1231;1155;1189;1226;1226;1233;1233;1226;1231;1226	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	1233;1231;1226;1226;837;1233;1189;1226;1204;1226;1226;1231;1155	ENSP00000363076:D1233E;ENSP00000410304:D1231E;ENSP00000378826:D1226E;ENSP00000386693:D837E;ENSP00000378832:D1233E;ENSP00000378820:D1189E;ENSP00000354950:D1226E;ENSP00000378821:D1204E;ENSP00000322604:D1226E;ENSP00000378818:D1226E;ENSP00000412628:D1155E	ENSP00000322604:D1226E	D	-	3	2	PCDH15	55296447	0.001000	0.12720	0.711000	0.30485	0.937000	0.57800	-0.370000	0.07523	-0.423000	0.07394	-0.253000	0.11424	GAC	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2		0	52	0	G	NM_033056		55626441	-1			no_errors	ENST00000320301	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.851	T	T	55626441	G	T	55626441	3	4	97	1	0	0	0	0	1	0	0	0	11550	1136	40	2	3836	2	PCDH15	10	55626441	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1097392	55626441	79908306	193	27805											
ANK3	288	genome.wustl.edu	37	chr10	62023736	62023736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagcgaaacgacttggtCgtgaccttgttgcaaagcca	11	8	12	10	3	0	1	0	1	0	0	1	4	0	2	2	2	4	2	2	2	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:62023736C>T	ENST00000280772.2	-	6	747	c.556G>A	c.(556-558)Gac>Aac	p.D186N	ANK3_ENST00000503366.1_Missense_Mutation_p.D169N|ANK3_ENST00000373827.2_Missense_Mutation_p.D180N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	186					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACGACTTGGTCGTGACCTTGT	0.478																																																	0													88	72	77					10																	62023736		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.556G>A	10.37:g.62023736C>T	ENSP00000280772:p.Asp186Asn		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.D186N	ENST00000280772.2	37	c.556	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863050	0.51482	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000503925	T;T;T;T	0.64438	-0.1;0.65;2.42;2.43	5.09	4.18	0.49190	Ankyrin repeat-containing domain (4);	0.000000	0.40908	D	0.000989	T	0.42787	0.1218	L	0.31420	0.93	0.80722	D	1	B;B;B	0.30741	0.293;0.16;0.159	B;B;B	0.23150	0.044;0.042;0.03	T	0.39187	-0.9626	10	0.02654	T	1	.	13.5162	0.61541	0.0:0.9249:0.0:0.0751	.	169;180;186	E9PE32;Q5CZH9;Q12955	.;.;ANK3_HUMAN	N	186;180;169;148;160	ENSP00000280772:D186N;ENSP00000362933:D180N;ENSP00000425236:D169N;ENSP00000426011:D160N	ENSP00000280772:D186N	D	-	1	0	ANK3	61693742	1.000000	0.71417	0.850000	0.33497	0.785000	0.44390	4.814000	0.62627	1.366000	0.46076	0.591000	0.81541	GAC	ANK3	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.478	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	32	0	C	NM_020987		62023736	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.999	T	T	62023736	C	T	62023736	3	4	97	1	0	0	0	0	1	0	0	0	622	884	31	1	13062	1	ANK3	10	62023736	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	6397295	62023736	73511011	194	27806											
RRP12	23223	genome.wustl.edu	37	chr10	99125868	99125868	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcgttgggcccaccttTggcaccttcctcttcctcca	5	11	8	17	2	1	0	0	0	1	0	4	0	4	0	6	2	1	2	6	2	1	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:99125868T>G	ENST00000370992.4	-	29	3625	c.3514A>C	c.(3514-3516)Aaa>Caa	p.K1172Q	RRP12_ENST00000536831.1_Missense_Mutation_p.K890Q|RRP12_ENST00000315563.6_Missense_Mutation_p.K1072Q|RRP12_ENST00000414986.1_Missense_Mutation_p.K1111Q|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1172						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGCCCACCTTTGGCACCTTCC	0.552																																																	0													244	191	209					10																	99125868		2203	4300	6503	SO:0001583	missense	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"KIAA0690"	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3514A>C	10.37:g.99125868T>G	ENSP00000360031:p.Lys1172Gln		B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.K1172Q	ENST00000370992.4	37	c.3514	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633131	0.29068	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.32988	1.43;1.44;1.44;1.43	5.47	4.31	0.51392	.	0.669254	0.15640	N	0.251922	T	0.22475	0.0542	L	0.34521	1.04	0.46774	D	0.999199	P;P;P;B	0.43826	0.818;0.682;0.813;0.059	B;B;B;B	0.39419	0.165;0.299;0.232;0.042	T	0.01520	-1.1334	10	0.29301	T	0.29	.	9.4447	0.38690	0.1584:0.0:0.0:0.8416	.	1111;1072;890;1172	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	Q	1172;1072;1111;890	ENSP00000360031:K1172Q;ENSP00000324315:K1072Q;ENSP00000414863:K1111Q;ENSP00000446184:K890Q	ENSP00000324315:K1072Q	K	-	1	0	RRP12	99115858	0.724000	0.28038	0.367000	0.25926	0.013000	0.08279	-0.231000	0.09069	0.879000	0.35944	0.454000	0.30748	AAA	RRP12	-	NULL	ENSG00000052749		0.552	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	-	0	66	0	T	NM_015179		99125868	-1	tier1	-	no_errors	ENST00000370992	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.979	G	G	99125868	T	G	99125868	3	3	97	1	0	0	0	0	1	0	0	0	13731	1821	63	4	403	4	RRP12	10	99125868	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	37102132	99125868	36408879	195	27807											
SHOC2	8036	genome.wustl.edu	37	chr10	112764519	112764519	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatttggaattttctcCagagcaaaagtattaagtaa	15	14	6	6	0	1	1	0	0	1	1	3	2	2	2	2	1	1	3	2	1	6	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:112764519C>A	ENST00000369452.4	+	5	1473	c.1128C>A	c.(1126-1128)tcC>tcA	p.S376S	SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Silent_p.S330S	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	376					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GAATTTTCTCCAGAGCAAAAG	0.348																																																	0													50	49	50					10																	112764519		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"soc-2 (suppressor of clear, C.elegans) homolog"			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.1128C>A	10.37:g.112764519C>A			A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S376	ENST00000369452.4	37	c.1128	CCDS7568.1	10																																																																																			SHOC2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000108061		0.348	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1		0	50	0	C	NM_007373		112764519	1			no_errors	ENST00000369452	ensembl	human	known	74_37	silent	5.45	51	3	SNP	0.995	A	A	112764519	C	A	112764519	2	1	97	1	0	0	0	0	0	0	0	1	14332	581	21	3		3	SHOC2	10	112764519	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	13638651	112764519	22770228	196	27808											
NRAP	4892	genome.wustl.edu	37	chr10	115381763	115381763	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgcgggcatgcacgaggtgGaccatgtccagggagacgtg	8	7	17	9	3	0	1	0	0	0	1	1	4	1	2	2	4	2	2	2	4	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:115381763G>T	ENST00000359988.3	-	24	2878	c.2634C>A	c.(2632-2634)gtC>gtA	p.V878V	NRAP_ENST00000369358.4_Silent_p.V886V|NRAP_ENST00000369360.3_Silent_p.V851V|NRAP_ENST00000360478.3_Silent_p.V843V	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCACGAGGTGGACCATGTCCA	0.537																																																	0													270	200	224					10																	115381763		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2634C>A	10.37:g.115381763G>T				Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.V886	ENST00000359988.3	37	c.2658	CCDS7579.1	10																																																																																			NRAP	-	smart_Nebulin_35r-motif	ENSG00000197893		0.537	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2		0	66	0	G	NM_006175		115381763	-1			no_errors	ENST00000369358	ensembl	human	known	74_37	silent	5.33	71	4	SNP	0.967	T	T	115381763	G	T	115381763	2	4	97	1	0	0	0	0	0	0	0	1	10677	1161	41	3		3	NRAP	10	115381763	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2617244	115381763	20152984	197	27809											
DCLRE1A	9937	genome.wustl.edu	37	chr10	115596896	115596896	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttagagtgtgtccatcCtgtaggtcgaaatgccaaaa	11	12	10	8	1	0	1	0	0	0	1	3	2	2	1	3	1	1	2	3	1	5	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:115596896C>A	ENST00000361384.2	-	8	3804	c.2887G>T	c.(2887-2889)Gga>Tga	p.G963*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.G963*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	963					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGTGTCCATCCTGTAGGTCGA	0.353								Other identified genes with known or suspected DNA repair function																																									0													202	192	195					10																	115596896		2203	4300	6503	SO:0001587	stop_gained	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	609682	"DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2887G>T	10.37:g.115596896C>A	ENSP00000355185:p.Gly963*		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Nonsense_Mutation	SNP	pfam_DRMBL	p.G963*	ENST00000361384.2	37	c.2887	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	C	49	14.946660	0.99816	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.9555	16.9947	0.86363	0.0:1.0:0.0:0.0	.	.	.	.	X	963	.	ENSP00000355185:G963X	G	-	1	0	DCLRE1A	115586886	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.039000	0.76544	2.506000	0.84524	0.586000	0.80456	GGA	DCLRE1A	-	pfam_DRMBL	ENSG00000198924		0.353	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1		0	48	0	C	NM_014881		115596896	-1			no_errors	ENST00000361384	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	A	A	115596896	C	A	115596896	4	1	97	1	0	0	0	0	0	1	0	0	4303	690	24	3	243	3	DCLRE1A	10	115596896	Nonsense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	215133	115596896	19937851	198	27810											
FAM160B1	57700	genome.wustl.edu	37	chr10	116615069	116615069	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattttttgaaagtgctGttcgacagaatgggaagaat	12	13	12	4	1	1	3	1	1	0	2	2	5	1	4	0	2	1	2	0	2	4	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:116615069G>T	ENST00000369248.4	+	14	2252	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	FAM160B1_ENST00000369250.3_Silent_p.L639L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	639										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TGAAAGTGCTGTTCGACAGAA	0.358																																																	0													87	88	88					10																	116615069		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"KIAA1600"	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1917G>T	10.37:g.116615069G>T			Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	pfam_RetinoicA-induced_16-like	p.L639	ENST00000369248.4	37	c.1917	CCDS31290.1	10																																																																																			FAM160B1	-	NULL	ENSG00000151553		0.358	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	HGNC	protein_coding	OTTHUMT00000050499.1	-	0	45	0	G	XM_049351		116615069	1	tier1	-	no_errors	ENST00000369248	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.072	T	T	116615069	G	T	116615069	2	4	97	1	0	0	0	0	0	0	0	1	5489	1364	48	3		3	FAM160B1	10	116615069	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1018173	116615069	18919678	199	27811											
HSPA12A	259217	genome.wustl.edu	37	chr10	118439187	118439187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagggcgtttgattttGaattgttcaataaaatcctc	10	15	9	7	1	1	2	1	2	0	0	3	2	2	2	1	1	1	4	1	1	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:118439187G>T	ENST00000369209.3	-	10	1217	c.1113C>A	c.(1111-1113)ttC>ttA	p.F371L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	371						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTTTGATTTTGAATTGTTCAA	0.433																																																	0													93	92	92					10																	118439187		1811	4078	5889	SO:0001583	missense	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"Heat shock proteins / HSP70"	19022	protein-coding gene	gene with protein product		610701	"heat shock 70kD protein 12A"			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1113C>A	10.37:g.118439187G>T	ENSP00000358211:p.Phe371Leu			Missense_Mutation	SNP	NULL	p.F371L	ENST00000369209.3	37	c.1113	CCDS41569.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107360	0.77096	.	.	ENSG00000165868	ENST00000369209	T	0.25749	1.78	5.95	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.31804	0.96	0.53688	D	0.999974	D	0.76494	0.999	D	0.78314	0.991	T	0.05419	-1.0886	10	0.29301	T	0.29	.	6.6779	0.23103	0.3033:0.0:0.6967:0.0	.	371	O43301	HS12A_HUMAN	L	371	ENSP00000358211:F371L	ENSP00000358211:F371L	F	-	3	2	HSPA12A	118429177	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.589000	0.46145	1.534000	0.49203	0.655000	0.94253	TTC	HSPA12A	-	NULL	ENSG00000165868		0.433	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1		0	86	0	G	NM_025015		118439187	-1			no_errors	ENST00000369209	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	118439187	G	T	118439187	3	4	97	1	0	0	0	0	1	0	0	0	7431	1281	45	3	926	3	HSPA12A	10	118439187	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1824118	118439187	17095560	200	27812											
EMX2	2018	genome.wustl.edu	37	chr10	119305283	119305283	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactacgtggtgggcgccGaaaggaagcagctggcacac	11	5	14	11	3	1	0	1	0	0	0	1	2	1	1	1	4	3	3	1	4	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:119305283G>T	ENST00000553456.3	+	2	1371	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	183					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E183K(1)		endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GGTGGGCGCCGAAAGGAAGCA	0.642																																																	1	Substitution - Missense(1)	large_intestine(1)											46	44	45					10																	119305283		2203	4300	6503	SO:0001587	stop_gained	0			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"Homeoboxes / ANTP class : NKL subclass"	3341	protein-coding gene	gene with protein product		600035	"empty spiracles homolog 2 (Drosophila)"			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.547G>T	10.37:g.119305283G>T	ENSP00000450962:p.Glu183*		G3V305|Q96NN8|Q9BQF4	Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.E183*	ENST00000553456.3	37	c.547	CCDS7601.1	10	.	.	.	.	.	.	.	.	.	.	G	46	12.716759	0.99690	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.3677	20.2806	0.98513	0.0:0.0:1.0:0.0	.	.	.	.	X	183	.	ENSP00000358202:E183X	E	+	1	0	EMX2	119295273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	GAA	EMX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	ENSG00000170370		0.642	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4		0	44	0	G	NM_004098		119305283	1			no_errors	ENST00000553456	ensembl	human	known	74_37	nonsense	5.66	50	3	SNP	1.000	T	T	119305283	G	T	119305283	4	4	97	1	0	0	0	0	0	1	0	0	5124	1059	37	2	553	2	EMX2	10	119305283	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	866096	119305283	16229464	201	27813											
ZRANB1	54764	genome.wustl.edu	37	chr10	126671772	126671772	+	Frame_Shift_Del	DEL	T	T	-																															aagcttggagcagacgcacaTttttgtactggcacatattc																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:126671772delT	ENST00000359653.4	+	7	1948	c.1577delT	c.(1576-1578)attfs	p.I526fs	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	526	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAGACGCACATTTTTGTACTG	0.358																																																	0													98	103	101					10																	126671772		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"Zinc fingers, RAN-binding domain containing", "OTU domain containing"	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1577delT	10.37:g.126671772delT	ENSP00000352676:p.Ile526fs		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.F527fs	ENST00000359653.4	37	c.1577	CCDS7642.1	10																																																																																			ZRANB1	-	pfam_OTU,pfscan_OTU	ENSG00000019995		0.358	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1		0	27	0	T	NM_017580		126671772	1	tier1		no_errors	ENST00000359653	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	1.000	-	-	126671772	T	-	126671772	7	5	97	1	0	1	0	1	0	0	0	0	18270	1493	52	0	1603	0	ZRANB1	10	126671772	Frame_Shift_Del	DEL	T	TCGA-L7-A6VZ-01A-12D-A33E-09	7366489	126671772	8862975	202	27814											
KNDC1	85442	genome.wustl.edu	37	chr10	135027545	135027545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaattacgttcaggacaaGtatctgttacagcttctaag	12	12	7	10	1	3	0	1	0	2	0	3	1	3	1	1	1	3	4	1	1	6	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr10:135027545G>T	ENST00000304613.3	+	26	4617	c.4596G>T	c.(4594-4596)aaG>aaT	p.K1532N	KNDC1_ENST00000368572.2_Missense_Mutation_p.K1534N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1532	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTCAGGACAAGTATCTGTTAC	0.522																																																	0													133	119	123					10																	135027545		2203	4300	6503	SO:0001583	missense	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4596G>T	10.37:g.135027545G>T	ENSP00000304437:p.Lys1532Asn		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.K1534N	ENST00000304613.3	37	c.4602	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902344	0.52227	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.30182	1.54;1.54	4.22	2.33	0.28932	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	1.264260	0.05838	N	0.618806	T	0.16257	0.0391	N	0.08118	0	0.36122	D	0.845543	B	0.34264	0.446	B	0.30105	0.111	T	0.07809	-1.0753	10	0.30854	T	0.27	-9.1004	8.2586	0.31771	0.2026:0.0:0.7974:0.0	.	1532	Q76NI1	VKIND_HUMAN	N	1532;1534	ENSP00000304437:K1532N;ENSP00000357561:K1534N	ENSP00000304437:K1532N	K	+	3	2	KNDC1	134877535	0.525000	0.26290	0.980000	0.43619	0.848000	0.48234	-0.026000	0.12392	0.364000	0.24374	0.313000	0.20887	AAG	KNDC1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000171798		0.522	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0	74	0	G	NM_152643		135027545	1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T	T	135027545	G	T	135027545	3	4	97	1	0	0	0	0	1	0	0	0	8453	1020	36	3	4698	3	KNDC1	10	135027545	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8355773	135027545	507202	203	27815											
RIC8A	60626	genome.wustl.edu	37	chr11	212896	212896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggccttctggctgccaggGgcctcatggcaggaggccgg	4	7	17	13	1	2	0	1	0	1	0	2	1	2	1	4	8	1	2	4	8	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:212896G>T	ENST00000526104.1	+	8	2614	c.1270G>T	c.(1270-1272)Ggc>Tgc	p.G424C	RIC8A_ENST00000325207.5_Missense_Mutation_p.G430C|RIC8A_ENST00000527696.1_Missense_Mutation_p.G418C			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	424					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCTGCCAGGGGCCTCATGGC	0.602																																																	0													52	57	55					11																	212896		2203	4300	6503	SO:0001583	missense	0			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1270G>T	11.37:g.212896G>T	ENSP00000432008:p.Gly424Cys		Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Missense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.G430C	ENST00000526104.1	37	c.1288		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.551618|4.551618	0.86127|0.86127	.|.	.|.	ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696|ENST00000524854	.|.	.|.	.|.	3.96|3.96	3.96|3.96	0.45880|0.45880	Synembryn (1);|.	0.112688|0.112688	0.64402|0.64402	D|D	0.000012|0.000012	D|D	0.83367|0.83367	0.5239|0.5239	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.80764|.	0.992;0.994;0.989|.	D|D	0.86984|0.86984	0.2106|0.2106	9|6	0.87932|.	D|.	0|.	-24.688|-24.688	16.2632|16.2632	0.82562|0.82562	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	418;424;430|.	Q9NPQ8-2;Q9NPQ8;Q9NPQ8-3|.	.;RIC8A_HUMAN;.|.	C|V	424;430;418|31	.|.	ENSP00000325941:G430C|.	G|G	+|+	1|2	0|0	RIC8A|RIC8A	202896|202896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.589000|7.589000	0.82641|0.82641	2.526000|2.526000	0.85167|0.85167	0.561000|0.561000	0.74099|0.74099	GGC|GGG	RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8,prints_Synembryn	ENSG00000177963		0.602	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	-	0	29	0	G	NM_021932		212896	1	tier1	-	no_errors	ENST00000325207	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	212896	G	T	212896	3	4	97	1	0	0	0	0	1	0	0	0	13400	1232	43	3	1318	3	RIC8A	11	212896	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		212896	134793620	204	27816											
SIRT3	23410	genome.wustl.edu	37	chr11	233095	233095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagtttccagggtacagCtccttggccaaagtgaaaaa	12	11	10	8	0	0	1	0	1	0	0	2	1	2	1	3	2	2	4	3	2	5	5	rs201359613		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:233095C>A	ENST00000382743.4	-	3	696	c.594G>T	c.(592-594)gaG>gaT	p.E198D	SIRT3_ENST00000524564.1_Missense_Mutation_p.E134D|SIRT3_ENST00000532956.1_Missense_Mutation_p.E198D|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000525319.1_Missense_Mutation_p.E117D|SIRT3_ENST00000529382.1_Missense_Mutation_p.E56D	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	198	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CAGGGTACAGCTCCTTGGCCA	0.527																																																	0													106	105	105					11																	233095		2203	4300	6503	SO:0001583	missense	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3", "sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.594G>T	11.37:g.233095C>A	ENSP00000372191:p.Glu198Asp		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.E198D	ENST00000382743.4	37	c.594	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	c	15.29	2.788831	0.49997	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382;ENST00000528469	T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19	5.37	1.41	0.22369	.	0.197629	0.46145	D	0.000319	T	0.16599	0.0399	L	0.41961	1.31	0.38413	D	0.945981	B;B;B;B;B	0.21147	0.002;0.052;0.004;0.047;0.045	B;B;B;B;B	0.28849	0.007;0.095;0.033;0.043;0.029	T	0.07028	-1.0794	10	0.52906	T	0.07	-21.3376	4.9589	0.14056	0.1335:0.5719:0.0:0.2945	.	198;198;117;134;198	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	D	198;117;134;198;56;56	ENSP00000372191:E198D;ENSP00000435464:E117D;ENSP00000432937:E134D;ENSP00000433077:E198D;ENSP00000437216:E56D;ENSP00000432857:E56D	ENSP00000372191:E198D	E	-	3	2	SIRT3	223095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.035000	0.41155	0.271000	0.22005	-0.156000	0.13503	GAG	SIRT3	-	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	ENSG00000142082		0.527	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	-	0	63	0	C			233095	-1	tier1	-	no_errors	ENST00000382743	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	233095	C	A	233095	3	1	97	1	0	0	0	0	1	0	0	0	14384	796	28	3	625	3	SIRT3	11	233095	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	20199	233095	134773421	205	27817											
ANO9	338440	genome.wustl.edu	37	chr11	428561	428561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctccaggaagggcaCggccgagctgctgaagagcg	8	5	15	13	3	0	2	0	1	0	1	2	4	2	3	3	3	4	4	3	3	2	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:428561C>T	ENST00000332826.6	-	13	1183	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	367					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						AGGAAGGGCACGGCCGAGCTG	0.662																																																	0													27	31	30					11																	428561		2194	4286	6480	SO:0001583	missense	0			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	20679	protein-coding gene	gene with protein product			"tumor protein p53 inducible protein 5", "transmembrane protein 16J"	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1099G>A	11.37:g.428561C>T	ENSP00000332788:p.Val367Met		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	pfam_Anoctamin	p.V367M	ENST00000332826.6	37	c.1099	CCDS31326.1	11	.	.	.	.	.	.	.	.	.	.	C	6.457	0.452479	0.12283	.	.	ENSG00000185101	ENST00000332826	T	0.66280	-0.2	3.5	-4.14	0.03892	.	2.058920	0.02185	N	0.060864	T	0.36826	0.0981	N	0.08118	0	0.09310	N	1	P;D	0.53462	0.645;0.96	B;B	0.38428	0.107;0.273	T	0.40646	-0.9552	10	0.33940	T	0.23	.	7.9742	0.30145	0.3964:0.1228:0.4808:0.0	.	68;367	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	M	367	ENSP00000332788:V367M	ENSP00000332788:V367M	V	-	1	0	ANO9	418561	0.000000	0.05858	0.032000	0.17829	0.151000	0.21798	0.021000	0.13489	-0.770000	0.04614	-1.355000	0.01225	GTG	ANO9	-	pfam_Anoctamin	ENSG00000185101		0.662	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	-	0	44	0	C	NM_001012302		428561	-1	tier1	-	no_errors	ENST00000332826	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.007	T	T	428561	C	T	428561	3	4	97	1	0	0	0	0	1	0	0	0	704	536	19	1	1293	1	ANO9	11	428561	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	195466	428561	134577955	206	27818											
MUC5B	727897	genome.wustl.edu	37	chr11	1264031	1264031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagaagcacagccaccaCacccacagctaccagcgtta	14	4	7	16	1	0	1	0	1	0	1	0	2	0	1	4	0	5	3	4	0	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:1264031C>A	ENST00000529681.1	+	31	5979	c.5921C>A	c.(5920-5922)aCa>aAa	p.T1974K	MUC5B_ENST00000447027.1_Missense_Mutation_p.T1977K|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1974	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCCACCACACCCACAGCT	0.632																																																	0													176	233	214					11																	1264031		2163	4259	6422	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5921C>A	11.37:g.1264031C>A	ENSP00000436812:p.Thr1974Lys		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1977K	ENST00000529681.1	37	c.5930	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	6.364	0.435177	0.12045	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18657	2.2;2.39	2.24	-4.48	0.03515	.	.	.	.	.	T	0.12347	0.0300	L	0.40543	1.245	0.09310	N	1	P;P	0.42827	0.791;0.791	B;B	0.34931	0.135;0.192	T	0.02774	-1.1112	9	0.87932	D	0	.	5.3707	0.16138	0.1323:0.6021:0.1318:0.1339	.	2667;1977	A7Y9J9;E9PBJ0	.;.	K	1974;1977;1975;2044	ENSP00000436812:T1974K;ENSP00000415793:T1977K	ENSP00000343037:T1975K	T	+	2	0	MUC5B	1220607	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-4.235000	0.00269	-2.551000	0.00479	-0.984000	0.02558	ACA	MUC5B	-	NULL	ENSG00000117983		0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	146	0	C	XM_001126093		1264031	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	79.23	27	103	SNP	0.000	A	A	1264031	C	A	1264031	3	1	97	1	0	0	0	0	1	0	0	0	10017	478	17	3	6052	3	MUC5B	11	1264031	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	835470	1264031	133742485	207	27819											
OR51F2	119694	genome.wustl.edu	37	chr11	4842957	4842957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaatgcctgcattgcccaGatgttctttctacacggatt	9	14	7	11	1	2	1	0	0	2	1	2	2	2	2	2	1	4	2	2	1	3	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:4842957G>A	ENST00000322110.5	+	1	407	c.342G>A	c.(340-342)caG>caA	p.Q114Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTGCCCAGATGTTCTTTC	0.478																																																	0													178	158	165					11																	4842957		2201	4298	6499	SO:0001819	synonymous_variant	0			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.342G>A	11.37:g.4842957G>A			Q6IFI1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q114	ENST00000322110.5	37	c.342	CCDS31361.1	11																																																																																			OR51F2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176925		0.478	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	-	0	43	0	G	NM_001004753		4842957	1	tier1	-	no_errors	ENST00000322110	ensembl	human	known	74_37	silent	27.27	16	6	SNP	1.000	A	A	4842957	G	A	4842957	2	1	97	1	0	0	0	0	0	0	0	1	11136	933	33	3		3	OR51F2	11	4842957	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3578926	4842957	130163559	208	27820											
OR51B6	390058	genome.wustl.edu	37	chr11	5372961	5372961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggagtgacattgaccaCaatgcccacagtgctaggtg	10	8	11	12	1	0	2	0	2	0	0	1	3	0	3	3	2	2	1	3	2	2	2	rs185127545		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:5372961C>T	ENST00000380219.1	+	1	224	c.224C>T	c.(223-225)aCa>aTa	p.T75I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	75					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATTGACCACAATGCCCACA	0.463																																																	0													136	123	127					11																	5372961		2201	4297	6498	SO:0001583	missense	0				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"GPCR / Class A : Olfactory receptors"	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.224C>T	11.37:g.5372961C>T	ENSP00000369568:p.Thr75Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.T75I	ENST00000380219.1	37	c.224	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120031	0.56613	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00123	8.7	5.15	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00356	0.0011	M	0.65320	2	0.30499	N	0.770607	D	0.89917	1.0	D	0.91635	0.999	T	0.45716	-0.9242	10	0.87932	D	0	.	9.6906	0.40125	0.0:0.8323:0.0:0.1677	.	75	Q9H340	O51B6_HUMAN	I	74;75	ENSP00000369568:T75I	ENSP00000369568:T75I	T	+	2	0	OR51B6	5329537	0.336000	0.24757	0.995000	0.50966	0.834000	0.47266	3.469000	0.53093	1.399000	0.46721	0.557000	0.71058	ACA	OR51B6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176239		0.463	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	HGNC	protein_coding	OTTHUMT00000142960.1		0	46	0	C	NM_001004750		5372961	1			no_errors	ENST00000380219	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.981	T	T	5372961	C	T	5372961	3	4	97	1	0	0	0	0	1	0	0	0	11131	478	17	3	226	3	OR51B6	11	5372961	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	530004	5372961	129633555	209	27821											
DNHD1	144132	genome.wustl.edu	37	chr11	6565416	6565416	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaagatcttggccatcGaaaagtcaggagatttaaac	14	10	9	8	1	2	2	1	0	1	2	4	4	3	2	2	2	1	0	2	2	5	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:6565416G>T	ENST00000527990.2	+	17	3694	c.3694G>T	c.(3694-3696)Gaa>Taa	p.E1232*	DNHD1_ENST00000254579.6_Nonsense_Mutation_p.E1232*			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1232					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTGGCCATCGAAAAGTCAGG	0.488																																																	0													92	82	85					11																	6565416		692	1591	2283	SO:0001587	stop_gained	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.3694G>T	11.37:g.6565416G>T	ENSP00000436180:p.Glu1232*		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.E1232*	ENST00000527990.2	37	c.3694	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.188540	0.98696	.	.	ENSG00000179532	ENST00000254579;ENST00000527990	.	.	.	5.23	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6703	0.23064	0.0:0.7238:0.1831:0.0931	.	.	.	.	X	1232	.	ENSP00000254579:E1232X	E	+	1	0	DNHD1	6521992	0.996000	0.38824	1.000000	0.80357	0.634000	0.38068	0.800000	0.27042	1.537000	0.49254	-0.128000	0.14901	GAA	DNHD1	-	pfam_Dynein_heavy_dom-2	ENSG00000179532		0.488	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2		0	34	0	G	NM_144666		6565416	1			no_errors	ENST00000254579	ensembl	human	known	74_37	nonsense	5.88	32	2	SNP	0.997	T	T	6565416	G	T	6565416	4	4	97	1	0	0	0	0	0	1	0	0	4682	1059	37	2	3769	2	DNHD1	11	6565416	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1192455	6565416	128441100	210	27822											
PPFIBP2	8495	genome.wustl.edu	37	chr11	7631633	7631633	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagcagagagagcaggagGagaagcagagaaaagcagag	19	0	18	4	0	0	5	0	0	0	5	0	10	0	7	0	3	4	4	0	3	3	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:7631633G>T	ENST00000299492.4	+	6	986	c.598G>T	c.(598-600)Gag>Tag	p.E200*	PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.E88*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.E42*|PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.E57*	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	200					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.E200*(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAGCAGGAGGAGAAGCAGAG	0.512																																																	1	Substitution - Nonsense(1)	large_intestine(1)											258	250	252					11																	7631633		2201	4296	6497	SO:0001587	stop_gained	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"Sterile alpha motif (SAM) domain containing"	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.598G>T	11.37:g.7631633G>T	ENSP00000299492:p.Glu200*		B7Z433|E9PK77|O75337|Q8WW26	Nonsense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E200*	ENST00000299492.4	37	c.598	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.288627	0.97444	.	.	ENSG00000166387	ENST00000299492;ENST00000529575;ENST00000533792;ENST00000525597;ENST00000537467;ENST00000541115;ENST00000528883;ENST00000530181	.	.	.	5.79	5.79	0.91817	.	0.071509	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-24.1382	17.5252	0.87798	0.0:0.0:1.0:0.0	.	.	.	.	X	200;42;42;42;42;123;88;57	.	ENSP00000299492:E200X	E	+	1	0	PPFIBP2	7588209	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	6.187000	0.72039	2.746000	0.94184	0.655000	0.94253	GAG	PPFIBP2	-	pfam_Integrase_Tn916-type_DNA-bd_N	ENSG00000166387		0.512	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2		0	57	0	G	NM_003621		7631633	1			no_errors	ENST00000299492	ensembl	human	known	74_37	nonsense	5.77	49	3	SNP	1.000	T	T	7631633	G	T	7631633	4	4	97	1	0	0	0	0	0	1	0	0	12353	1175	41	3	616	3	PPFIBP2	11	7631633	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1066217	7631633	127374883	211	27823											
NAV2	89797	genome.wustl.edu	37	chr11	20136187	20136187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccaagtgggtgatggAcacatatccatgggcagcca	10	8	12	11	0	0	1	0	1	0	0	2	2	2	2	4	3	2	1	4	3	2	1	rs369324745		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:20136187A>G	ENST00000396087.3	+	40	7286	c.7187A>G	c.(7186-7188)gAc>gGc	p.D2396G	NAV2_ENST00000540292.1_Missense_Mutation_p.D2327G|NAV2_ENST00000349880.4_Missense_Mutation_p.D2337G|NAV2_ENST00000311043.8_Missense_Mutation_p.D1401G|NAV2_ENST00000360655.4_Missense_Mutation_p.D2273G|NAV2_ENST00000533917.1_Missense_Mutation_p.D1401G|NAV2_ENST00000527559.2_Missense_Mutation_p.D2325G|NAV2_ENST00000396085.1_Missense_Mutation_p.D2340G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2396					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGGTGATGGACACATATCCA	0.602																																																	0								A	GLY/ASP,GLY/ASP,GLY/ASP,GLY/ASP	0,4406		0,0,2203	73	60	65		6818,4202,7010,7019	5.9	1	11		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NAV2	NM_001111018.1,NM_001111019.1,NM_145117.4,NM_182964.5	94,94,94,94	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	2273/2366,1401/1494,2337/2430,2340/2433	20136187	1,13005	2203	4300	6503	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.7187A>G	11.37:g.20136187A>G	ENSP00000379396:p.Asp2396Gly		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.D2396G	ENST00000396087.3	37	c.7187	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506537	0.85282	0.0	1.16E-4	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	T;T;T;T;T;T;T;T	0.30981	1.51;1.62;1.61;1.63;1.52;1.52;3.15;3.15	5.92	5.92	0.95590	.	0.080279	0.52532	D	0.000063	T	0.47154	0.1430	L	0.47016	1.485	0.58432	D	0.999998	P;P;D;P	0.58620	0.774;0.787;0.983;0.726	P;P;D;B	0.63957	0.653;0.521;0.92;0.446	T	0.27123	-1.0083	9	.	.	.	.	16.0262	0.80548	1.0:0.0:0.0:0.0	.	2340;1401;2337;2273	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	G	2273;2340;2337;2396;2325;2327;1401;1401	ENSP00000353871:D2273G;ENSP00000379394:D2340G;ENSP00000309577:D2337G;ENSP00000379396:D2396G;ENSP00000435395:D2325G;ENSP00000443489:D2327G;ENSP00000437316:D1401G;ENSP00000312169:D1401G	.	D	+	2	0	NAV2	20092763	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	GAC	NAV2	-	NULL	ENSG00000166833		0.602	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0	26	0	A	NM_145117		20136187	1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	80.95	4	17	SNP	1.000	G	G	20136187	A	G	20136187	3	3	97	1	0	0	0	0	1	0	0	0	10222	275	10	4	7274	4	NAV2	11	20136187	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	12504554	20136187	114870329	212	27824											
PRMT3	10196	genome.wustl.edu	37	chr11	20411325	20411325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaaacattttcacactGtaagtctgagcatcagttta	14	13	7	7	0	3	3	2	2	1	1	3	3	3	3	0	0	2	3	0	0	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:20411325G>T	ENST00000331079.6	+	3	417	c.200G>T	c.(199-201)tGt>tTt	p.C67F	PRMT3_ENST00000437750.2_Missense_Mutation_p.V22L	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	67					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTTTCACACTGTAAGTCTGAG	0.338																																																	0													134	133	134					11																	20411325		2203	4300	6503	SO:0001583	missense	0			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.200G>T	11.37:g.20411325G>T	ENSP00000331879:p.Cys67Phe		B4DUC7	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.C67F	ENST00000331079.6	37	c.200	CCDS7853.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.035436|3.035436	0.54896|0.54896	.|.	.|.	ENSG00000185238|ENSG00000185238	ENST00000331079;ENST00000541255|ENST00000437750	T|T	0.45668|0.25912	0.89|1.77	5.67|5.67	5.67|5.67	0.87782|0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);|.	0.039477|.	0.85682|.	D|.	0.000000|.	T|T	0.30070|0.30070	0.0753|0.0753	.|.	.|.	.|.	0.30789|0.30789	N|N	0.741186|0.741186	D|B	0.89917|0.30914	1.0|0.3	D|B	0.97110|0.33454	1.0|0.164	T|T	0.27400|0.27400	-1.0075|-1.0075	9|8	0.72032|0.87932	D|D	0.01|0	-17.6443|-17.6443	19.3604|19.3604	0.94434|0.94434	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	67|22	O60678|O60678-2	ANM3_HUMAN|.	F|L	67|22	ENSP00000331879:C67F|ENSP00000397766:V22L	ENSP00000331879:C67F|ENSP00000329586:V22L	C|V	+|+	2|1	0|0	PRMT3|PRMT3	20367901|20367901	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.888000|7.888000	0.87302|0.87302	2.679000|2.679000	0.91253|0.91253	0.655000|0.655000	0.94253|0.94253	TGT|GTA	PRMT3	-	NULL	ENSG00000185238		0.338	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT3	HGNC	protein_coding	OTTHUMT00000387489.1	-	0	36	0	G	NM_005788		20411325	1	tier1	-	no_errors	ENST00000331079	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	T	T	20411325	G	T	20411325	3	4	97	1	0	0	0	0	1	0	0	0	12580	1377	48	3	210	3	PRMT3	11	20411325	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	275138	20411325	114595191	213	27825											
LRP4	4038	genome.wustl.edu	37	chr11	46898787	46898787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatggcaatggtgttcttCatggtaatgttgattggtac	9	15	11	6	0	2	1	1	1	1	0	2	1	2	1	1	4	1	5	1	4	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:46898787C>A	ENST00000378623.1	-	23	3482	c.3240G>T	c.(3238-3240)atG>atT	p.M1080I	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1080					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGTGTTCTTCATGGTAATGT	0.493																																																	0													251	186	208					11																	46898787		2201	4299	6500	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3240G>T	11.37:g.46898787C>A	ENSP00000367888:p.Met1080Ile		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.M1080I	ENST00000378623.1	37	c.3240	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163407	0.57476	.	.	ENSG00000134569	ENST00000378623	D	0.90732	-2.72	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83031	0.5166	N	0.13043	0.29	0.80722	D	1	B	0.15141	0.012	B	0.15870	0.014	T	0.77403	-0.2601	10	0.07175	T	0.84	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1080	O75096	LRP4_HUMAN	I	1080	ENSP00000367888:M1080I	ENSP00000367888:M1080I	M	-	3	0	LRP4	46855363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.481000	0.81124	2.941000	0.99782	0.655000	0.94253	ATG	LRP4	-	smart_LDLR_classB_rpt	ENSG00000134569		0.493	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	-	0	66	0	C	NM_002334		46898787	-1	tier1	-	no_errors	ENST00000378623	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	A	A	46898787	C	A	46898787	3	1	97	1	0	0	0	0	1	0	0	0	8994	826	29	3	2541	3	LRP4	11	46898787	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	26487462	46898787	88107729	214	27826											
C11orf49	79096	genome.wustl.edu	37	chr11	47074049	47074049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttctggagatgcttccGaactgtgggcaaaaatggcg	9	9	14	9	2	1	1	0	0	1	1	2	3	2	1	2	4	2	2	2	4	3	2	rs199708936		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:47074049G>T	ENST00000278460.7	+	3	319	c.260G>T	c.(259-261)cGa>cTa	p.R87L	C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000395460.2_Missense_Mutation_p.R87L|C11orf49_ENST00000378615.3_Missense_Mutation_p.R87L|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000378618.2_Missense_Mutation_p.R87L|C11orf49_ENST00000543718.1_Intron	NM_001003677.1|NM_024113.3	NP_001003677.1|NP_077018.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	87						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						AGATGCTTCCGAACTGTGGGC	0.473																																																	0													113	113	113					11																	47074049		2201	4299	6500	SO:0001583	missense	0			AL136575	CCDS7925.1, CCDS31479.1, CCDS31480.1, CCDS41641.1	11p11.2	2006-02-02			ENSG00000149179	ENSG00000149179			28720	protein-coding gene	gene with protein product							Standard	NM_001003677		Approved	FLJ22210, MGC4707	uc001ndr.4	Q9H6J7	OTTHUMG00000166725	ENST00000278460.7:c.260G>T	11.37:g.47074049G>T	ENSP00000278460:p.Arg87Leu		D3DQQ8|E9PAX7|Q7L077|Q96CS8|Q9BQH4|Q9BUW5	Nonsense_Mutation	SNP	NULL	p.E53*	ENST00000278460.7	37	c.157	CCDS7925.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.241633	0.95272	.	.	ENSG00000149179	ENST00000278460;ENST00000378618;ENST00000395460;ENST00000378615;ENST00000526827	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.55609	0.1931	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.996	D;D;D	0.87578	0.998;0.992;0.992	T	0.54669	-0.8259	10	0.87932	D	0	-10.9165	20.5568	0.99304	0.0:0.0:1.0:0.0	.	87;87;87	E9PAX7;Q9H6J7-2;Q9H6J7	.;.;CK049_HUMAN	L	87;87;87;87;13	ENSP00000278460:R87L;ENSP00000367881:R87L;ENSP00000378844:R87L;ENSP00000367878:R87L;ENSP00000433707:R13L	ENSP00000278460:R87L	R	+	2	0	C11orf49	47030625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.948000	0.93006	2.861000	0.98227	0.655000	0.94253	CGA	C11orf49	-	NULL	ENSG00000149179		0.473	C11orf49-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf49	HGNC	protein_coding	OTTHUMT00000391218.1	-	0	74	0	G	NM_024113		47074049	1	tier1	-	no_errors	ENST00000525895	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	47074049	G	T	47074049	3	4	97	1	0	0	0	0	1	0	0	0	1650	1058	37	2	270	2	C11orf49	11	47074049	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	175262	47074049	87932467	215	27827											
OR5L2	26338	genome.wustl.edu	37	chr11	55595176	55595176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgttctctgattcactcgtCcttagctcttaggatcctct	5	17	7	12	1	4	1	1	1	3	0	8	2	6	2	2	1	1	2	2	1	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:55595176C>T	ENST00000378397.1	+	1	482	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATTCACTCGTCCTTAGCTCTT	0.488										HNSCC(27;0.073)																																							0													217	191	200					11																	55595176		2200	4296	6496	SO:0001583	missense	0			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"GPCR / Class A : Olfactory receptors"	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.482C>T	11.37:g.55595176C>T	ENSP00000367650:p.Ser161Phe		Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S161F	ENST00000378397.1	37	c.482	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	1.859	-0.463174	0.04476	.	.	ENSG00000205030	ENST00000378397	T	0.33438	1.41	5.18	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.18173	0.0436	L	0.37561	1.115	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.32134	-0.9918	10	0.10111	T	0.7	-20.2258	4.698	0.12813	0.0786:0.279:0.4983:0.1441	.	161	Q8NGL0	OR5L2_HUMAN	F	161	ENSP00000367650:S161F	ENSP00000367650:S161F	S	+	2	0	OR5L2	55351752	0.000000	0.05858	0.008000	0.14137	0.004000	0.04260	-0.179000	0.09768	0.306000	0.22856	-0.973000	0.02599	TCC	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205030		0.488	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	-	0	23	0	C	NM_001004739		55595176	1	tier1	-	no_errors	ENST00000378397	ensembl	human	known	74_37	missense	68.42	6	13	SNP	0.000	T	T	55595176	C	T	55595176	3	4	97	1	0	0	0	0	1	0	0	0	11210	855	30	3	484	3	OR5L2	11	55595176	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	8521127	55595176	79411340	216	27828											
OR8H1	219469	genome.wustl.edu	37	chr11	56057870	56057870	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaattaattttcaggatGgtagagagaatggacacata	15	11	12	3	0	1	2	1	0	0	2	1	6	1	5	0	4	0	1	0	4	5	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:56057870G>T	ENST00000313022.2	-	1	696	c.669C>A	c.(667-669)acC>acA	p.T223T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T223T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTTCAGGATGGTAGAGAGAA	0.393																																																	1	Substitution - coding silent(1)	ovary(1)											136	125	129					11																	56057870		2201	4294	6495	SO:0001819	synonymous_variant	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"GPCR / Class A : Olfactory receptors"	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.669C>A	11.37:g.56057870G>T			B2RNI7|Q6IFC5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T223	ENST00000313022.2	37	c.669	CCDS31526.1	11																																																																																			OR8H1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181693		0.393	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1		0	50	0	G	NM_001005199		56057870	-1			no_errors	ENST00000313022	ensembl	human	known	74_37	silent	5.13	37	2	SNP	0.000	T	T	56057870	G	T	56057870	2	4	97	1	0	0	0	0	0	0	0	1	11276	1335	47	3		3	OR8H1	11	56057870	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	462694	56057870	78948646	217	27829											
ZFP91	80829	genome.wustl.edu	37	chr11	58381734	58381734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagcatttgctgaagaaGaaatatgtatgtccccatcc	13	11	7	10	0	0	3	0	1	0	2	2	3	2	3	4	0	3	3	4	0	6	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:58381734G>T	ENST00000316059.6	+	9	1191	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	AP001350.1_ENST00000601906.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.K340N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	340	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.K340N(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGCTGAAGAAGAAATATGTAT	0.398																																																	2	Substitution - Missense(2)	lung(2)											89	83	85					11																	58381734		2201	4295	6496	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"Zinc fingers, C2H2-type"	14983	protein-coding gene	gene with protein product			"zinc finger protein homologous to Zfp91 in mouse", "zinc finger protein 91 homolog (mouse)"			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1020G>T	11.37:g.58381734G>T	ENSP00000339030:p.Lys340Asn		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K340N	ENST00000316059.6	37	c.1020	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230226	0.79688	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.14766	2.48	5.97	4.1	0.47936	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.58302	1.8	0.54753	D	0.999986	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.879	T	0.01337	-1.1381	10	0.87932	D	0	-20.8441	10.8807	0.46937	0.1554:0.0:0.8446:0.0	.	340;340	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	N	340	ENSP00000339030:K340N	ENSP00000374569:K340N	K	+	3	2	ZFP91	58138310	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.012000	0.49575	0.845000	0.35118	0.585000	0.79938	AAG	ZFP91	-	NULL	ENSG00000186660		0.398	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1		0	29	0	G	NM_053023		58381734	1			no_errors	ENST00000316059	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	58381734	G	T	58381734	3	4	97	1	0	0	0	0	1	0	0	0	17703	933	33	3	1054	3	ZFP91	11	58381734	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2323864	58381734	76624782	218	27830											
MS4A13	503497	genome.wustl.edu	37	chr11	60310034	60310034	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgttactgaggaagctGagagcactccttaaaaaccc	13	9	8	11	0	1	2	0	2	1	1	2	4	2	3	2	1	4	3	2	1	5	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:60310034G>T	ENST00000527948.1	+	3	730	c.172G>T	c.(172-174)Gag>Tag	p.E58*	MS4A13_ENST00000378186.2_Nonsense_Mutation_p.E149*|MS4A13_ENST00000378185.2_Nonsense_Mutation_p.E109*|MS4A13_ENST00000437058.2_Nonsense_Mutation_p.E90*			Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	0						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						TGAGGAAGCTGAGAGCACTCC	0.348																																																	0													85	87	86					11																	60310034		2203	4300	6503	SO:0001587	stop_gained	0			AY324188	CCDS31571.1, CCDS41653.1, CCDS60801.1	11q12.2	2005-12-05	2005-12-05		ENSG00000204979	ENSG00000204979			16674	protein-coding gene	gene with protein product							Standard	NM_001012417		Approved		uc001nps.3	Q5J8X5	OTTHUMG00000167615	ENST00000527948.1:c.172G>T	11.37:g.60310034G>T	ENSP00000432713:p.Glu58*		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Nonsense_Mutation	SNP	pfam_CD20-like	p.E149*	ENST00000527948.1	37	c.445		11	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304235	0.60305	.	.	ENSG00000204979	ENST00000378186;ENST00000378185;ENST00000437058;ENST00000527948	.	.	.	4.37	3.46	0.39613	.	0.696409	0.13023	N	0.419932	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.3762	8.551	0.33451	0.104:0.0:0.896:0.0	.	.	.	.	X	149;109;90;58	.	ENSP00000367427:E109X	E	+	1	0	MS4A13	60066610	0.045000	0.20229	0.021000	0.16686	0.001000	0.01503	2.040000	0.41203	1.425000	0.47237	-0.157000	0.13467	GAG	MS4A13	-	NULL	ENSG00000204979		0.348	MS4A13-003	NOVEL	basic|exp_conf	protein_coding	MS4A13	HGNC	protein_coding	OTTHUMT00000395411.1	-	0	63	0	G	NM_001012417		60310034	1	tier1	-	no_errors	ENST00000378186	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	0.024	T	T	60310034	G	T	60310034	4	4	97	1	0	0	0	0	0	1	0	0	9895	1291	45	3	463	3	MS4A13	11	60310034	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1928300	60310034	74696482	219	27831											
SUV420H1	51111	genome.wustl.edu	37	chr11	67939074	67939074	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttccttgtggagtacatGacactgaagtcgttttctcc	7	17	8	9	1	1	2	0	2	1	0	4	3	2	3	2	1	1	2	2	1	2	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:67939074G>T	ENST00000304363.4	-	7	1109	c.756C>A	c.(754-756)gtC>gtA	p.V252V	SUV420H1_ENST00000402789.1_Silent_p.V252V|SUV420H1_ENST00000401547.2_Silent_p.V252V|SUV420H1_ENST00000402185.2_Silent_p.V229V|SUV420H1_ENST00000405515.1_Silent_p.V252V	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	252	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGGAGTACATGACACTGAAGT	0.433																																																	0													133	131	131					11																	67939074		2200	4294	6494	SO:0001819	synonymous_variant	0			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"Chromatin-modifying enzymes / K-methyltransferases"	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.756C>A	11.37:g.67939074G>T			B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.V252	ENST00000304363.4	37	c.756	CCDS31623.1	11																																																																																			SUV420H1	-	pfam_SET_dom,smart_SET_dom	ENSG00000110066		0.433	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H1	HGNC	protein_coding	OTTHUMT00000318319.1	-	0	66	0	G	NM_017635		67939074	-1	tier1	-	no_errors	ENST00000304363	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	T	T	67939074	G	T	67939074	2	4	97	1	0	0	0	0	0	0	0	1	15461	1277	45	3		3	SUV420H1	11	67939074	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7629040	67939074	67067442	220	27832											
ODZ4	26011	genome.wustl.edu	37	chr11	78380678	78380678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtcgcggatgtcataccGtagtggtgtgagccgtgcac	6	9	16	10	5	1	1	1	1	0	0	2	2	1	2	2	3	3	2	2	3	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:78380678G>A	ENST00000278550.7	-	32	7174	c.6712C>T	c.(6712-6714)Cgg>Tgg	p.R2238W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2238					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										ATGTCATACCGTAGTGGTGTG	0.557																																																	0													176	179	178					11																	78380678		2181	4260	6441	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6712C>T	11.37:g.78380678G>A	ENSP00000278550:p.Arg2238Trp		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R2238W	ENST00000278550.7	37	c.6712	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282607	0.40394	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90444	-2.67;0.77	5.14	1.99	0.26369	.	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	M	0.75447	2.3	0.51012	D	0.999907	D	0.89917	1.0	D	0.79784	0.993	D	0.93515	0.6856	9	.	.	.	.	14.4603	0.67445	0.0:0.0:0.3229:0.6771	.	2238	Q6N022	TEN4_HUMAN	W	2238;702	ENSP00000278550:R2238W;ENSP00000431711:R702W	.	R	-	1	2	ODZ4	78058326	0.999000	0.42202	0.516000	0.27786	0.556000	0.35491	2.838000	0.48199	0.678000	0.31325	0.655000	0.94253	CGG	TENM4	-	NULL	ENSG00000149256		0.557	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	48	0	G			78380678	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	77.55	11	38	SNP	0.693	A	A	78380678	G	A	78380678	3	1	97	1	0	0	0	0	1	0	0	0	10876	1144	40	1	1609	1	ODZ4	11	78380678	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10441604	78380678	56625838	221	27833											
ANKRD42	338699	genome.wustl.edu	37	chr11	82909574	82909574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcagtacgagctggaGatgtaaagcagctttcagaa	14	9	12	6	1	1	3	1	1	0	2	1	5	1	3	0	1	5	6	0	1	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:82909574G>T	ENST00000393392.2	+	2	274	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	ANKRD42_ENST00000531895.1_Missense_Mutation_p.D38Y|ANKRD42_ENST00000533342.1_Missense_Mutation_p.D38Y|ANKRD42_ENST00000393389.3_Missense_Mutation_p.D38Y|ANKRD42_ENST00000260047.6_Missense_Mutation_p.D38Y|ANKRD42_ENST00000526731.1_Missense_Mutation_p.D38Y|ANKRD42_ENST00000528722.1_5'UTR	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	38					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACGAGCTGGAGATGTAAAGCA	0.398																																																	0													128	113	118					11																	82909574		2203	4300	6503	SO:0001583	missense	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"Ankyrin repeat domain containing"	26752	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 79"						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.112G>T	11.37:g.82909574G>T	ENSP00000377051:p.Asp38Tyr		Q49A49	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D38Y	ENST00000393392.2	37	c.112	CCDS8265.1	11	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506864	0.64410	.	.	ENSG00000137494	ENST00000545672;ENST00000393389;ENST00000260047;ENST00000526731;ENST00000531895;ENST00000393392;ENST00000533342	T;T;T;T;T;T	0.67698	-0.16;2.4;-0.16;2.4;-0.28;-0.16	5.97	5.07	0.68467	Ankyrin repeat-containing domain (4);	0.086123	0.49916	D	0.000127	T	0.78717	0.4327	M	0.71296	2.17	0.38276	D	0.942307	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;D;P;D	0.70016	0.907;0.957;0.935;0.907;0.967	T	0.81258	-0.1014	9	.	.	.	-4.8769	11.8833	0.52587	0.1409:0.0:0.8591:0.0	.	38;38;303;129;38	E9PIL2;Q8N9B4-2;A1DRY3;A1XPJ0;Q8N9B4	.;.;.;.;ANR42_HUMAN	Y	357;38;38;38;38;38;38	ENSP00000377049:D38Y;ENSP00000260047:D38Y;ENSP00000433585:D38Y;ENSP00000434666:D38Y;ENSP00000377051:D38Y;ENSP00000435790:D38Y	.	D	+	1	0	ANKRD42	82587222	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.915000	0.63355	1.545000	0.49373	-0.136000	0.14681	GAT	ANKRD42	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137494		0.398	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392934.1	-	0	72	0	G	NM_182603		82909574	1	tier1	-	no_errors	ENST00000393392	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	82909574	G	T	82909574	3	4	97	1	0	0	0	0	1	0	0	0	670	942	33	3	118	3	ANKRD42	11	82909574	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4528896	82909574	52096942	222	27834											
TRIM49	57093	genome.wustl.edu	37	chr11	89537238	89537238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacttacccggtgttcctCagcagcccactcaatgggac	9	9	8	15	1	3	0	3	0	0	0	4	1	4	1	3	2	3	2	3	2	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:89537238C>T	ENST00000329758.1	-	3	728	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TRIM49_ENST00000532501.2_Missense_Mutation_p.E134K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CGGTGTTCCTCAGCAGCCCAC	0.488																																																	0													22	21	21					11																	89537238		1983	3973	5956	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13431	protein-coding gene	gene with protein product		606124	"ring finger protein 18", "tripartite motif-containing 49"	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.400G>A	11.37:g.89537238C>T	ENSP00000327604:p.Glu134Lys		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.E134K	ENST00000329758.1	37	c.400	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	C	8.568	0.879318	0.17467	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.57436	0.4	0.821	-0.247	0.13019	.	.	.	.	.	T	0.60676	0.2287	M	0.90922	3.16	0.09310	N	1	P	0.37101	0.582	B	0.43889	0.435	T	0.57429	-0.7813	8	.	.	.	.	3.2817	0.06917	0.0:0.6705:0.0:0.3295	.	134	P0CI25	TRI49_HUMAN	K	134	ENSP00000327604:E134K	.	E	-	1	0	TRIM49	89176886	0.089000	0.21612	0.006000	0.13384	0.199000	0.23934	-0.025000	0.12413	-0.076000	0.12775	0.194000	0.17425	GAG	TRIM49	-	NULL	ENSG00000168930		0.488	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	-	0	87	0	C	NM_020358		89537238	-1	tier1	-	no_errors	ENST00000329758	ensembl	human	known	74_37	missense	34.91	69	37	SNP	0.012	T	T	89537238	C	T	89537238	3	4	97	1	0	0	0	0	1	0	0	0	16572	835	29	3	982	3	TRIM49	11	89537238	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	6627664	89537238	45469278	223	27835											
ATM	472	genome.wustl.edu	37	chr11	108155036	108155036	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgctaatcagattcaaGaggactggaaaagtcttcta	14	11	8	8	0	4	2	2	0	2	2	4	4	4	4	1	2	1	1	1	2	5	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:108155036G>T	ENST00000452508.2	+	27	4018	c.3829G>T	c.(3829-3831)Gag>Tag	p.E1277*	ATM_ENST00000278616.4_Nonsense_Mutation_p.E1277*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1277					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCAGATTCAAGAGGACTGGAA	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													58	60	59					11																	108155036		2201	4298	6499	SO:0001587	stop_gained	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3829G>T	11.37:g.108155036G>T	ENSP00000388058:p.Glu1277*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E1277*	ENST00000452508.2	37	c.3829	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	44	10.756579	0.99462	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	5.68	0.432	0.16529	.	0.380726	0.32218	N	0.006418	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	8.3999	0.32579	0.5852:0.0:0.4148:0.0	.	.	.	.	X	1277	.	ENSP00000278616:E1277X	E	+	1	0	ATM	107660246	0.997000	0.39634	0.987000	0.45799	0.991000	0.79684	1.771000	0.38542	0.176000	0.19873	0.557000	0.71058	GAG	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	78	0	G	NM_000051		108155036	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.946	T	T	108155036	G	T	108155036	4	4	97	1	0	0	0	0	0	1	0	0	1110	943	33	3	3927	3	ATM	11	108155036	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	18617798	108155036	26851480	224	27836											
C11orf63	79864	genome.wustl.edu	37	chr11	122817347	122817347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccttatccagcgtcacGcttccacctatactgtcaag	8	10	9	14	2	2	0	2	0	0	0	4	0	4	0	4	2	2	1	4	2	4	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:122817347G>A	ENST00000531316.1	+	5	1868	c.1776G>A	c.(1774-1776)acG>acA	p.T592T	C11orf63_ENST00000227349.2_Silent_p.T592T			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	592					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CCAGCGTCACGCTTCCACCTA	0.507																																																	0													77	71	73					11																	122817347		2202	4299	6501	SO:0001819	synonymous_variant	0			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1776G>A	11.37:g.122817347G>A			A8K6G0|Q96GB5|Q9H5D6	Silent	SNP	NULL	p.T592	ENST00000531316.1	37	c.1776	CCDS8438.1	11																																																																																			C11orf63	-	NULL	ENSG00000109944		0.507	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf63	HGNC	protein_coding	OTTHUMT00000387511.1	-	0	64	0	G	NM_024806		122817347	1	tier1	-	no_errors	ENST00000227349	ensembl	human	known	74_37	silent	52.17	33	36	SNP	0.000	A	A	122817347	G	A	122817347	2	1	97	1	0	0	0	0	0	0	0	1	1659	1074	38	1		1	C11orf63	11	122817347	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	14662311	122817347	12189169	225	27837											
OR8D1	283159	genome.wustl.edu	37	chr11	124180006	124180006	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctgtagaggatgaaGgcataggagacagcaacagc	15	5	15	6	0	0	3	0	1	0	2	0	6	0	5	0	4	4	4	0	4	4	2	rs369956026		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr11:124180006G>T	ENST00000357821.2	-	1	727	c.657C>A	c.(655-657)gcC>gcA	p.A219A		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAGGATGAAGGCATAGGAGA	0.502																																																	0								G		0,4402		0,0,2201	66	52	57		657	0.2	0	11		57	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	OR8D1	NM_001002917.1		0,1,6499	TT,TG,GG		0.0116,0.0,0.0077		219/309	124180006	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	0			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"GPCR / Class A : Olfactory receptors"	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.657C>A	11.37:g.124180006G>T			B2RNL4|Q6IEW1|Q8NGH0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A219	ENST00000357821.2	37	c.657	CCDS31706.1	11																																																																																			OR8D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196341		0.502	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	-	0	54	0	G	NM_001002917		124180006	-1	tier1	-	no_errors	ENST00000357821	ensembl	human	known	74_37	silent	6.90	53	4	SNP	0.000	T	T	124180006	G	T	124180006	2	4	97	1	0	0	0	0	0	0	0	1	11270	987	35	3		3	OR8D1	11	124180006	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1362659	124180006	10826510	226	27838											
VWF	7450	genome.wustl.edu	37	chr12	6167091	6167091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtgcagcttccaggcGttcccgaagtcctccacccg	5	8	9	19	4	0	0	0	0	0	0	5	1	5	0	7	1	2	3	7	1	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:6167091G>A	ENST00000261405.5	-	14	1907	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	551	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTTCCAGGCGTTCCCGAAGT	0.652																																																	0													64	65	64					12																	6167091		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.1653C>T	12.37:g.6167091G>A			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.N551	ENST00000261405.5	37	c.1653	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF	ENSG00000110799		0.652	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	93	0	G	NM_000552		6167091	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	59.85	53	79	SNP	0.145	A	A	6167091	G	A	6167091	2	1	97	1	0	0	0	0	0	0	0	1	17295	1136	40	1		1	VWF	12	6167091	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		6167091	127684804	227	27839											
AEBP2	121536	genome.wustl.edu	37	chr12	19653105	19653105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatatgctttaacctctcaGctcatatagaaagtttaggg	12	13	7	9	0	2	1	2	0	1	1	3	1	2	1	2	1	3	3	2	1	6	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:19653105G>T	ENST00000398864.3	+	5	1275	c.1249G>T	c.(1249-1251)Gct>Tct	p.A417S	AEBP2_ENST00000541908.1_Missense_Mutation_p.A188S|AEBP2_ENST00000266508.9_Missense_Mutation_p.A417S|AEBP2_ENST00000360995.4_Missense_Mutation_p.A201S	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	417	Interaction with SUZ12.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TAACCTCTCAGCTCATATAGA	0.328																																																	0													69	67	67					12																	19653105		1869	4095	5964	SO:0001583	missense	0				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.1249G>T	12.37:g.19653105G>T	ENSP00000381840:p.Ala417Ser		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A417S	ENST00000398864.3	37	c.1249	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221366	0.58560	.	.	ENSG00000139154	ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995;ENST00000512223;ENST00000398731	T;T;T;T	0.69306	-0.35;-0.21;-0.39;-0.26	4.94	4.94	0.65067	.	.	.	.	.	T	0.58206	0.2106	L	0.36672	1.1	0.46609	D	0.999122	P	0.44090	0.826	B	0.39152	0.292	T	0.59736	-0.7398	9	0.33141	T	0.24	-6.07	18.1518	0.89676	0.0:0.0:1.0:0.0	.	417	Q6ZN18	AEBP2_HUMAN	S	188;417;351;417;201;27;15	ENSP00000437983:A188S;ENSP00000381840:A417S;ENSP00000266508:A417S;ENSP00000354267:A201S	ENSP00000266508:A417S	A	+	1	0	AEBP2	19544372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.028000	0.76470	2.282000	0.76494	0.561000	0.74099	GCT	AEBP2	-	NULL	ENSG00000139154		0.328	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1		0	45	0	G	NM_153207		19653105	1			no_errors	ENST00000398864	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T	T	19653105	G	T	19653105	3	4	97	1	0	0	0	0	1	0	0	0	350	971	34	3	1267	3	AEBP2	12	19653105	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	13486014	19653105	114198790	228	27840											
CPNE8	144402	genome.wustl.edu	37	chr12	39223209	39223209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttccaggcgacttccctGtgaaccaacgatctctccca	8	12	6	15	2	1	1	0	1	1	0	5	3	4	1	4	1	2	0	4	1	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:39223209G>T	ENST00000331366.5	-	6	475	c.379C>A	c.(379-381)Cag>Aag	p.Q127K	CPNE8_ENST00000360449.3_Missense_Mutation_p.Q115K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	127						extracellular vesicular exosome (GO:0070062)		p.?(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CGACTTCCCTGTGAACCAACG	0.348																																																	1	Unknown(1)	NS(1)											152	162	159					12																	39223209		2203	4300	6503	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.379C>A	12.37:g.39223209G>T	ENSP00000329748:p.Gln127Lys		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.Q127K	ENST00000331366.5	37	c.379	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	3.958	-0.010831	0.07727	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.41400	1.0;1.0	3.85	3.85	0.44370	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.308466	0.27198	N	0.020465	T	0.20373	0.0490	N	0.10645	0.015	0.42114	D	0.991393	B	0.16603	0.018	B	0.20184	0.028	T	0.09862	-1.0655	10	0.02654	T	1	-9.006	13.5458	0.61702	0.0:0.0:1.0:0.0	.	127	Q86YQ8	CPNE8_HUMAN	K	127;115	ENSP00000329748:Q127K;ENSP00000353633:Q115K	ENSP00000329748:Q127K	Q	-	1	0	CPNE8	37509476	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.156000	0.64905	2.068000	0.61886	0.563000	0.77884	CAG	CPNE8	-	superfamily_C2_dom,smart_C2_dom	ENSG00000139117		0.348	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1		0	51	0	G	NM_153634		39223209	-1			no_errors	ENST00000331366	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	39223209	G	T	39223209	3	4	97	1	0	0	0	0	1	0	0	0	3825	1386	48	3	1375	3	CPNE8	12	39223209	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	19570104	39223209	94628686	229	27841											
C12orf40	283461	genome.wustl.edu	37	chr12	40040183	40040183	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatagagacataaaaatgccCctaagaaagcataatttaga	21	8	6	6	0	0	3	0	0	0	3	0	4	0	3	2	0	2	1	2	0	9	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:40040183C>A	ENST00000324616.5	+	4	409	c.255C>A	c.(253-255)ccC>ccA	p.P85P	C12orf40_ENST00000405531.3_Silent_p.P85P|C12orf40_ENST00000398716.1_Silent_p.P8P	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	85										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAAAAATGCCCCTAAGAAAGC	0.294																																																	0													117	112	113					12																	40040183		1814	4080	5894	SO:0001819	synonymous_variant	0			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.255C>A	12.37:g.40040183C>A			B7WNU1|Q8IXY6|Q8N818|V9HW02	Silent	SNP	NULL	p.P85	ENST00000324616.5	37	c.255	CCDS41770.1	12																																																																																			C12orf40	-	NULL	ENSG00000180116		0.294	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf40	HGNC	protein_coding	OTTHUMT00000257664.2		0	64	0	C	NM_173599		40040183	1			no_errors	ENST00000324616	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.654	A	A	40040183	C	A	40040183	2	1	97	1	0	0	0	0	0	0	0	1	1691	610	22	3		3	C12orf40	12	40040183	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	816974	40040183	93811712	230	27842											
RPAP3	79657	genome.wustl.edu	37	chr12	48080646	48080646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatccctcgagtatagcaTtcaattgctctttcatattt	9	17	5	10	1	3	0	2	0	1	0	5	1	4	0	1	0	2	4	1	0	5	8			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:48080646T>C	ENST00000005386.3	-	9	1024	c.909A>G	c.(907-909)gaA>gaG	p.E303E	RPAP3_ENST00000380650.4_Silent_p.E303E|RPAP3_ENST00000432584.3_Silent_p.E144E	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	303										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					GAGTATAGCATTCAATTGCTC	0.348																																																	0													155	141	146					12																	48080646		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"Tetratricopeptide (TTC) repeat domain containing"	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.909A>G	12.37:g.48080646T>C			B4DRW9|Q6PHR5	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E303	ENST00000005386.3	37	c.909	CCDS8753.1	12																																																																																			RPAP3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000005175		0.348	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP3	HGNC	protein_coding	OTTHUMT00000405340.1	-	0	61	0	T	NM_024604		48080646	-1	tier1	-	no_errors	ENST00000005386	ensembl	human	known	74_37	silent	53.57	26	30	SNP	1.000	C	C	48080646	T	C	48080646	2	2	97	1	0	0	0	0	0	0	0	1	13588	1490	52	4		4	RPAP3	12	48080646	Silent	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	8040463	48080646	85771249	231	27843											
C12orf68	387856	genome.wustl.edu	37	chr12	48578224	48578224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcttgggcgtggtcggcGgcaaggggagcttccagagc	5	6	20	10	4	0	1	0	0	0	1	2	2	1	2	1	7	2	3	1	7	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:48578224G>T	ENST00000316554.3	+	1	859	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		107						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CGTGGTCGGCGGCAAGGGGAG	0.682																																																	0													17	19	18					12																	48578224		2202	4296	6498	SO:0001583	missense	0																														ENST00000316554.3:c.319G>T	12.37:g.48578224G>T	ENSP00000320849:p.Gly107Cys		Q96MK5|Q96N39	Missense_Mutation	SNP	NULL	p.G107C	ENST00000316554.3	37	c.319	CCDS31785.1	12	.	.	.	.	.	.	.	.	.	.	G	5.090	0.202249	0.09652	.	.	ENSG00000177875	ENST00000316554	T	0.53857	0.6	5.76	1.95	0.26073	.	0.495290	0.18835	N	0.129852	T	0.38904	0.1058	N	0.08118	0	0.30664	N	0.754048	D	0.54601	0.967	P	0.51777	0.679	T	0.44143	-0.9347	10	0.72032	D	0.01	-2.8704	7.8382	0.29382	0.3317:0.0:0.6683:0.0	.	107	Q52MB2	CL068_HUMAN	C	107	ENSP00000320849:G107C	ENSP00000320849:G107C	G	+	1	0	C12orf68	46864491	0.945000	0.32115	0.904000	0.35570	0.091000	0.18340	0.829000	0.27449	0.093000	0.17368	-0.142000	0.14014	GGC	C12orf68	-	NULL	ENSG00000177875		0.682	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1		0	43	0	G			48578224	1			no_errors	ENST00000316554	ensembl	human	known	74_37	missense	6.12	45	3	SNP	0.977	T	T	48578224	G	T	48578224	3	4	97	1	0	0	0	0	1	0	0	0	1715	1116	39	2	321	2	C12orf68	12	48578224	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	497578	48578224	85273671	232	27844											
ACCN2	41	genome.wustl.edu	37	chr12	50474485	50474485	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggtcctccaccccagagGcccttccccaaaccctgttg	7	7	9	18	0	0	1	0	0	0	1	3	2	3	1	8	2	1	1	8	2	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:50474485G>T	ENST00000447966.2	+	9	1526				ASIC1_ENST00000552438.1_Intron|ASIC1_ENST00000228468.4_Missense_Mutation_p.R470S	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CACCCCAGAGGCCCTTCCCCA	0.557																																																	0													44	38	40					12																	50474485		2203	4300	6503	SO:0001627	intron_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.1297+113G>T	12.37:g.50474485G>T			A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.R470S	ENST00000447966.2	37	c.1410	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427926	0.62733	.	.	ENSG00000110881	ENST00000228468	T	0.61392	0.11	5.13	-0.571	0.11749	.	13.657200	0.00166	N	0.000000	T	0.40040	0.1101	.	.	.	0.09310	N	0.99999	B	0.06786	0.001	B	0.09377	0.004	T	0.12400	-1.0549	9	0.30854	T	0.27	7.8017	3.471	0.07567	0.4359:0.0:0.3859:0.1782	.	470	P78348-1	.	S	470	ENSP00000228468:R470S	ENSP00000228468:R470S	R	+	3	2	ACCN2	48760752	0.002000	0.14202	0.001000	0.08648	0.080000	0.17528	0.316000	0.19469	0.027000	0.15297	0.555000	0.69702	AGG	ASIC1	-	pfam_Na+channel_ASC	ENSG00000110881		0.557	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	-	0	69	0	G	NM_020039		50474485	1	tier1	-	no_errors	ENST00000228468	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	T	T	50474485	G	T	50474485	1	4	97	0	1	0	0	0	0	0	0	0	129	1194	42	3		3	ACCN2	12	50474485	Intron	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1896261	50474485	83377410	233	27845											
SMARCD1	6602	genome.wustl.edu	37	chr12	50483697	50483697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccactacccaggagaccGatggctttcaggtgaagcgg	9	6	13	13	3	1	2	1	1	0	1	1	4	1	2	4	4	2	1	4	4	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:50483697G>T	ENST00000394963.4	+	7	1200	c.802G>T	c.(802-804)Gat>Tat	p.D268Y	SMARCD1_ENST00000548573.1_Missense_Mutation_p.D66Y|SMARCD1_ENST00000381513.4_Missense_Mutation_p.D268Y	NM_003076.4	NP_003067.3			SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1											NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCAGGAGACCGATGGCTTTCA	0.582																																																	0													180	157	165					12																	50483697		2203	4300	6503	SO:0001583	missense	0			U66617	CCDS8797.2, CCDS8798.2	12q13-q14	2008-08-05			ENSG00000066117	ENSG00000066117			11106	protein-coding gene	gene with protein product		601735				8804307, 9693044, 12917342	Standard	NM_003076		Approved	BAF60A, Rsc6p, CRACD1	uc001rvx.4	Q96GM5	OTTHUMG00000150194	ENST00000394963.4:c.802G>T	12.37:g.50483697G>T	ENSP00000378414:p.Asp268Tyr			Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.D268Y	ENST00000394963.4	37	c.802	CCDS8797.2	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649266	0.87958	.	.	ENSG00000066117	ENST00000394963;ENST00000381513;ENST00000551966;ENST00000550477;ENST00000542914;ENST00000548573	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83562	0.5281	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.87339	0.2330	10	0.87932	D	0	-13.9295	19.5787	0.95455	0.0:0.0:1.0:0.0	.	66;268;268	F8VRQ4;Q96GM5-2;Q96GM5	.;.;SMRD1_HUMAN	Y	268;268;227;188;44;66	ENSP00000378414:D268Y;ENSP00000370924:D268Y;ENSP00000447386:D227Y;ENSP00000448627:D66Y	ENSP00000370924:D268Y	D	+	1	0	SMARCD1	48769964	1.000000	0.71417	0.913000	0.36048	0.991000	0.79684	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	GAT	SMARCD1	-	NULL	ENSG00000066117		0.582	SMARCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD1	HGNC	protein_coding	OTTHUMT00000316759.2	-	0	41	0	G	NM_003076		50483697	1	tier1	-	no_errors	ENST00000394963	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	50483697	G	T	50483697	3	4	97	1	0	0	0	0	1	0	0	0	14822	1058	37	2	828	2	SMARCD1	12	50483697	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9212	50483697	83368198	234	27846											
KRT6C	286887	genome.wustl.edu	37	chr12	52862909	52862909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgatggtggaactgccGcctccaacagagctgaggcc	9	8	12	12	1	0	3	0	2	0	1	1	4	1	4	4	3	5	1	4	3	3	2	rs535062636	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:52862909G>A	ENST00000252250.6	-	9	1679	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	544	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGGAACTGCCGCCTCCAACAG	0.587													G|||	4	0.000798722	8e-04	0	5008	,	,		20866	0		0.001	False		,,,				2504	0.002																0													92	90	90					12																	52862909		2203	4297	6500	SO:0001819	synonymous_variant	0			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"-", "Intermediate filaments type II, keratins (basic)"	20406	protein-coding gene	gene with protein product		612315	"keratin 6E"	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1632C>T	12.37:g.52862909G>A			A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G544	ENST00000252250.6	37	c.1632	CCDS8829.1	12																																																																																			KRT6C	-	NULL	ENSG00000170465		0.587	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	-	0	64	0	G	NM_173086		52862909	-1	tier1	-	no_errors	ENST00000252250	ensembl	human	known	74_37	silent	44.19	48	38	SNP	0.997	A	A	52862909	G	A	52862909	2	1	97	1	0	0	0	0	0	0	0	1	8509	1074	38	1		1	KRT6C	12	52862909	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2379212	52862909	80988986	235	27847											
OBFC2B	79035	genome.wustl.edu	37	chr12	56622934	56622934	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacacacctgcaggcccGcctggcccttccagcaaccc	9	4	7	21	1	0	0	0	0	0	0	1	0	1	0	7	2	4	2	7	2	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:56622934G>T	ENST00000380198.2	+	6	1071	c.573G>T	c.(571-573)ccG>ccT	p.P191P	NABP2_ENST00000267023.4_Silent_p.P191P|SLC39A5_ENST00000266980.4_5'Flank|NABP2_ENST00000341463.5_Silent_p.P191P|SLC39A5_ENST00000454355.2_5'Flank			Q9BQ15	SOSB1_HUMAN	nucleic acid binding protein 2	191	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)|SOSS complex (GO:0070876)	single-stranded DNA binding (GO:0003697)										CTGCAGGCCCGCCTGGCCCTT	0.602																																																	0													63	61	62					12																	56622934		2203	4300	6503	SO:0001819	synonymous_variant	0			BC006171	CCDS8911.1	12q13.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000139579	ENSG00000139579			28412	protein-coding gene	gene with protein product	"single strand DNA-binding protein 1", "sensor of single-strand DNA complex subunit B1"	612104	"oligonucleotide/oligosaccharide-binding fold containing 2B"	OBFC2B			Standard	NM_024068		Approved	MGC2731, SSB1, hSSB1, SOSS-B1	uc001ski.3	Q9BQ15	OTTHUMG00000152527	ENST00000380198.2:c.573G>T	12.37:g.56622934G>T			A6NDF8|Q6XYC8	Silent	SNP	pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold	p.P191	ENST00000380198.2	37	c.573	CCDS8911.1	12																																																																																			NABP2	-	NULL	ENSG00000139579		0.602	NABP2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NABP2	HGNC	protein_coding	OTTHUMT00000326610.1		0	61	0	G	NM_024068		56622934	1			no_errors	ENST00000267023	ensembl	human	known	74_37	silent	7.02	50	4	SNP	0.995	T	T	56622934	G	T	56622934	2	4	97	1	0	0	0	0	0	0	0	1	10848	1074	38	2		2	OBFC2B	12	56622934	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3760025	56622934	77228961	236	27848											
CNPY2	10330	genome.wustl.edu	37	chr12	56705097	56705097	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacacgtacgtagttcttGcgatgggtggaaggatcaat	11	11	12	7	3	2	0	1	0	1	0	2	3	2	2	0	3	3	3	0	3	5	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:56705097G>T	ENST00000273308.4	-	4	846	c.306C>A	c.(304-306)cgC>cgA	p.R102R	RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.R102R	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	102	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CGTAGTTCTTGCGATGGGTGG	0.532																																																	0													222	202	209					12																	56705097		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"transmembrane protein 4", "canopy 2 homolog (zebrafish)"	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.306C>A	12.37:g.56705097G>T			B2R7B9|Q9UHE9	Silent	SNP	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	p.R102	ENST00000273308.4	37	c.306	CCDS8914.1	12																																																																																			CNPY2	-	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	ENSG00000257727		0.532	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY2	HGNC	protein_coding	OTTHUMT00000408546.1	-	0	49	0	G	NM_014255		56705097	-1	tier1	-	no_errors	ENST00000273308	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.994	T	T	56705097	G	T	56705097	2	4	97	1	0	0	0	0	0	0	0	1	3635	1306	46	3		3	CNPY2	12	56705097	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	82163	56705097	77146798	237	27849											
LRP1	4035	genome.wustl.edu	37	chr12	57571246	57571246	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgggatgccagcctgccCcgcattgaggcagcctccat	7	7	12	15	1	0	1	0	1	0	0	1	3	1	2	6	2	4	2	6	2	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:57571246C>A	ENST00000243077.3	+	26	4699	c.4233C>A	c.(4231-4233)ccC>ccA	p.P1411P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1411					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAGCCTGCCCCGCATTGAGG	0.682																																																	0													37	40	39					12																	57571246		2203	4300	6503	SO:0001819	synonymous_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4233C>A	12.37:g.57571246C>A			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P1411	ENST00000243077.3	37	c.4233	CCDS8932.1	12																																																																																			LRP1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.682	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0	35	0	C	NM_002332		57571246	1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.998	A	A	57571246	C	A	57571246	2	1	97	1	0	0	0	0	0	0	0	1	8986	610	22	3		3	LRP1	12	57571246	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	866149	57571246	76280649	238	27850											
LRP1	4035	genome.wustl.edu	37	chr12	57573298	57573298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacacaggccatcaagcgggCcttcatcaacggcacaggcg	11	4	12	14	3	3	0	3	0	0	0	3	1	3	0	2	4	2	1	2	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:57573298C>T	ENST00000243077.3	+	29	5391	c.4925C>T	c.(4924-4926)gCc>gTc	p.A1642V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1642					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCAAGCGGGCCTTCATCAAC	0.622																																																	0													121	86	97					12																	57573298		2203	4300	6503	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"CD molecules", "Low density lipoprotein receptors"	6692	protein-coding gene	gene with protein product		107770	"alpha-2-macroglobulin receptor"	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4925C>T	12.37:g.57573298C>T	ENSP00000243077:p.Ala1642Val		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A1642V	ENST00000243077.3	37	c.4925	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.269418	0.95429	.	.	ENSG00000123384	ENST00000243077	D	0.90444	-2.67	4.5	4.5	0.54988	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000003	D	0.93887	0.8044	L	0.56396	1.775	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.93345	0.6713	10	0.42905	T	0.14	.	16.4748	0.84129	0.0:1.0:0.0:0.0	.	1642	Q07954	LRP1_HUMAN	V	1642	ENSP00000243077:A1642V	ENSP00000243077:A1642V	A	+	2	0	LRP1	55859565	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.546000	0.82137	2.480000	0.83734	0.655000	0.94253	GCC	LRP1	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000123384		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2		0	40	0	C	NM_002332		57573298	1			no_errors	ENST00000243077	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	57573298	C	T	57573298	3	4	97	1	0	0	0	0	1	0	0	0	8986	739	26	3	5039	3	LRP1	12	57573298	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2052	57573298	76278597	239	27851											
USP15	9958	genome.wustl.edu	37	chr12	62783638	62783638	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattattcctgtttgcctaAgagaaaaattcagacactcg	13	13	7	8	1	1	3	1	1	0	2	3	4	2	3	2	0	1	1	2	0	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:62783638A>T	ENST00000280377.5	+	14	1772	c.1714A>T	c.(1714-1716)Aga>Tga	p.R572*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R543*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R547*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	572	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TGTTTGCCTAAGAGAAAAATT	0.373																																					Melanoma(181;615 2041 39364 49691 50001)												0													98	91	93					12																	62783638		2203	4300	6503	SO:0001587	stop_gained	0			AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"Ubiquitin-specific peptidases"	12613	protein-coding gene	gene with protein product		604731	"ubiquitin specific protease 15"			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1714A>T	12.37:g.62783638A>T	ENSP00000280377:p.Arg572*		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67	p.R572*	ENST00000280377.5	37	c.1714	CCDS58251.1	12	.	.	.	.	.	.	.	.	.	.	A	36	5.625093	0.96671	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	.	.	.	5.72	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1565	11.7917	0.52073	0.7205:0.2795:0.0:0.0	.	.	.	.	X	543;572;547	.	.	R	+	1	2	USP15	61069905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.656000	0.46716	0.974000	0.38366	0.533000	0.62120	AGA	USP15	-	pfam_Peptidase_C19/C67,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pfscan_Peptidase_C19/C67	ENSG00000135655		0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP15	HGNC	protein_coding	OTTHUMT00000407831.2	-	0	61	0	A	NM_006313		62783638	1	tier1	-	no_errors	ENST00000280377	ensembl	human	known	74_37	nonsense	45.65	25	21	SNP	1.000	T	T	62783638	A	T	62783638	4	4	97	1	0	0	0	0	0	1	0	0	17095	64	3	5	1677	5	USP15	12	62783638	Nonsense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	5210340	62783638	71068257	240	27852											
CPSF6	11052	genome.wustl.edu	37	chr12	69652850	69652850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgacctccaccatatgataGgggtgactatggcccccctg	8	8	11	14	1	0	2	0	2	0	0	1	3	1	2	6	3	0	0	6	3	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:69652850G>T	ENST00000435070.2	+	6	1285	c.1175G>T	c.(1174-1176)aGg>aTg	p.R392M	CPSF6_ENST00000456847.3_Missense_Mutation_p.R319M|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.R429M	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	392	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCATATGATAGGGGTGACTAT	0.453																																																	0													61	62	62					12																	69652850		2203	4300	6503	SO:0001583	missense	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"RNA binding motif (RRM) containing"	13871	protein-coding gene	gene with protein product	"cleavage factor Im complex 68 kDa subunit"	604979	"cleavage and polyadenylation specific factor 6, 68kD subunit"			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.1175G>T	12.37:g.69652850G>T	ENSP00000391774:p.Arg392Met		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R429M	ENST00000435070.2	37	c.1286	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	G	18.07	3.540731	0.65085	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.99	4.99	0.66335	.	0.138378	0.64402	D	0.000004	T	0.58090	0.2098	N	0.08118	0	0.80722	D	1	D;D;D	0.64830	0.984;0.994;0.99	D;D;D	0.74348	0.919;0.983;0.962	T	0.59820	-0.7382	8	.	.	.	-1.7326	18.8343	0.92155	0.0:0.0:1.0:0.0	.	140;429;392	B4DSU9;Q16630-2;Q16630	.;.;CPSF6_HUMAN	M	392;319;429	.	.	R	+	2	0	CPSF6	67939117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.761000	0.94854	0.563000	0.77884	AGG	CPSF6	-	NULL	ENSG00000111605		0.453	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1		0	27	0	G	NM_007007		69652850	1			no_errors	ENST00000266679	ensembl	human	known	74_37	missense	7.32	38	3	SNP	1.000	T	T	69652850	G	T	69652850	3	4	97	1	0	0	0	0	1	0	0	0	3836	1000	35	3	1197	3	CPSF6	12	69652850	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6869212	69652850	64199045	241	27853											
NAV3	89795	genome.wustl.edu	37	chr12	78574825	78574825	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaggctgttagctcaGgtgatttagtgcacatgctt	9	13	11	8	0	2	2	2	1	0	1	2	2	2	2	0	2	3	5	0	2	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:78574825G>C	ENST00000397909.2	+	30	5865	c.5692G>C	c.(5692-5694)Gat>Cat	p.D1898H	NAV3_ENST00000266692.7_Splice_Site_p.D1699H|NAV3_ENST00000228327.6_Splice_Site_p.D1876H|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Splice_Site_p.D1876H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1898						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTTAGCTCAGGTGATTTAGT	0.448										HNSCC(70;0.22)																																							0													93	92	92					12																	78574825		1974	4158	6132	SO:0001630	splice_region_variant	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 1", "steerin 3"	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5692+1G>C	12.37:g.78574825G>C			Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.D1898H	ENST00000397909.2	37	c.5692		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.885453|4.885453	0.91814|0.91814	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.31247|.	1.57;1.55;1.55;1.5;2.38|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.41396|.	U|.	0.000892|.	T|T	0.75961|0.75961	0.3921|0.3921	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	B;D;D;D|.	0.89917|.	0.027;0.971;0.993;1.0|.	B;P;P;D|.	0.70016|.	0.009;0.823;0.825;0.967|.	T|T	0.72164|0.72164	-0.4373|-0.4373	10|5	0.87932|.	D|.	0|.	-22.0253|-22.0253	20.3343|20.3343	0.98733|0.98733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1876;1699;1898;1876|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	H|T	1876;1898;1876;1699;490;498|770	ENSP00000446132:D1876H;ENSP00000381007:D1898H;ENSP00000228327:D1876H;ENSP00000266692:D1699H;ENSP00000448303:D498H|.	ENSP00000228327:D1876H|.	D|R	+|+	1|2	0|0	NAV3|NAV3	77098956|77098956	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.891000|0.891000	0.51852|0.51852	9.434000|9.434000	0.97515|0.97515	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GAT|AGA	NAV3	-	NULL	ENSG00000067798		0.448	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	-	0	31	0	G	NM_001024383	Missense_Mutation	78574825	1	tier1	-	no_errors	ENST00000397909	ensembl	human	known	74_37	missense	50.00	16	16	SNP	1.000	C	C	78574825	G	C	78574825	5	2	97	1	0	0	0	0	0	0	1	0	10223	1014	35	5	5740	5	NAV3	12	78574825	Splice_Site	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8921975	78574825	55277070	242	27854											
ACSS3	79611	genome.wustl.edu	37	chr12	81472208	81472208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacactcgccctctaccagGtggtgagtgacttctgtgcc	8	10	10	13	1	2	2	0	2	2	0	3	2	2	2	3	2	3	0	3	2	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:81472208G>T	ENST00000548058.1	+	1	1219	c.309G>T	c.(307-309)agG>agT	p.R103S	ACSS3_ENST00000261206.3_Splice_Site			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	103						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CCTCTACCAGGTGGTGAGTGA	0.572																																																	0													34	34	34					12																	81472208		1931	3860	5791	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.309G>T	12.37:g.81472208G>T	ENSP00000449535:p.Arg103Ser		Q8NC66	Splice_Site	SNP	-	e1+1	ENST00000548058.1	37	c.308+1	CCDS9022.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.720|0.720	-0.783824|-0.783824	0.02907|0.02907	.|.	.|.	ENSG00000111058|ENSG00000111058	ENST00000261206|ENST00000548058	.|T	.|0.10960	.|2.82	5.03|5.03	-6.01|-6.01	0.02199|0.02199	.|Acyl-CoA synthase, domain of unknown function DUF3448 (1);	.|0.513279	.|0.21855	.|N	.|0.068117	.|T	.|0.07593	.|0.0191	L|L	0.39085|0.39085	1.19|1.19	0.48185|0.48185	D|D	0.999608|0.999608	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	.|T	.|0.08848	.|-1.0702	.|10	.|0.38643	.|T	.|0.18	.|-6.1027	13.2809|13.2809	0.60214|0.60214	0.0:0.7077:0.111:0.1813|0.0:0.7077:0.111:0.1813	.|.	.|103	.|Q9H6R3	.|ACSS3_HUMAN	.|S	-1|103	.|ENSP00000449535:R103S	.|ENSP00000449535:R103S	.|R	+|+	.|3	.|2	ACSS3|ACSS3	79996339|79996339	0.422000|0.422000	0.25473|0.25473	0.350000|0.350000	0.25708|0.25708	0.304000|0.304000	0.27724|0.27724	-1.154000|-1.154000	0.03166|0.03166	-1.927000|-1.927000	0.01060|0.01060	-0.986000|-0.986000	0.02555|0.02555	.|AGG	ACSS3	-	-	ENSG00000111058		0.572	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	46	0	G	NM_024560		81472208	1	tier1	-	no_errors	ENST00000261206	ensembl	human	novel	74_37	splice_site	11.76	30	4	SNP	0.018	T	T	81472208	G	T	81472208	3	4	97	1	0	0	0	0	1	0	0	0	190	1252	44	3	311	3	ACSS3	12	81472208	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2897383	81472208	52379687	243	27855											
C12orf50	160419	genome.wustl.edu	37	chr12	88380088	88380088	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaaatatatagacaccttaCctctctgcattccagagtta	13	13	4	11	0	2	2	1	0	1	2	4	2	3	2	3	0	2	2	3	0	6	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:88380088C>A	ENST00000298699.2	-	10	1103		c.e10+1		C12orf50_ENST00000550553.1_Splice_Site	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50									p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AGACACCTTACCTCTCTGCAT	0.318																																																	1	Unknown(1)	breast(1)											86	87	86					12																	88380088		2203	4299	6502	SO:0001630	splice_region_variant	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.922+1G>T	12.37:g.88380088C>A			Q6P674	Splice_Site	SNP	-	e9+1	ENST00000298699.2	37	c.922+1	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	C	10.18	1.280098	0.23392	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	.	.	.	6.01	6.01	0.97437	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4379	0.87557	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C12orf50	86904219	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	4.200000	0.58433	2.861000	0.98227	0.650000	0.86243	.	C12orf50	-	-	ENSG00000165805		0.318	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1		0	45	0	C	NM_152589	Intron	88380088	-1			no_errors	ENST00000298699	ensembl	human	known	74_37	splice_site	5.56	34	2	SNP	1.000	A	A	88380088	C	A	88380088	5	1	97	1	0	0	0	0	0	0	1	0	1700	521	18	3	337	3	C12orf50	12	88380088	Splice_Site	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	6907880	88380088	45471807	244	27856											
DCN	1634	genome.wustl.edu	37	chr12	91558458	91558458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggtctagcagagttGtgtcagggggaagatccttt	8	13	14	6	0	2	2	1	0	1	2	3	3	3	3	1	3	2	3	1	3	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:91558458G>T	ENST00000052754.5	-	3	749	c.248C>A	c.(247-249)aCa>aAa	p.T83K	DCN_ENST00000420120.2_Intron|DCN_ENST00000441303.2_Missense_Mutation_p.T83K|DCN_ENST00000303320.3_Missense_Mutation_p.T83K|DCN_ENST00000228329.5_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.T83K|DCN_ENST00000393155.1_Missense_Mutation_p.T83K|DCN_ENST00000425043.1_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	83					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TAGCAGAGTTGTGTCAGGGGG	0.408																																																	0													127	116	120					12																	91558458		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	2705	protein-coding gene	gene with protein product	"decorin proteoglycan"	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.248C>A	12.37:g.91558458G>T	ENSP00000052754:p.Thr83Lys		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.T83K	ENST00000052754.5	37	c.248	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660077	0.67586	.	.	ENSG00000011465	ENST00000052754;ENST00000303320;ENST00000393155;ENST00000552962;ENST00000441303;ENST00000547937;ENST00000552145;ENST00000550563;ENST00000549513	T;D;T;T;D;T;T;T;D	0.84370	3.56;-1.84;3.56;3.56;-1.84;3.56;3.56;3.56;-1.84	6.08	6.08	0.98989	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	D	0.93976	0.7254	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	83;83	P07585;P07585-4	PGS2_HUMAN;.	K	83	ENSP00000052754:T83K;ENSP00000302031:T83K;ENSP00000376862:T83K;ENSP00000447654:T83K;ENSP00000399815:T83K;ENSP00000449782:T83K;ENSP00000447886:T83K;ENSP00000449014:T83K;ENSP00000449438:T83K	ENSP00000052754:T83K	T	-	2	0	DCN	90082589	1.000000	0.71417	0.969000	0.41365	0.025000	0.11179	9.476000	0.97823	2.894000	0.99253	0.591000	0.81541	ACA	DCN	-	smart_LRR-contain_N,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.408	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0	73	0	G	NM_133507		91558458	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	6.25	75	5	SNP	1.000	T	T	91558458	G	T	91558458	3	4	97	1	0	0	0	0	1	0	0	0	4306	1377	48	3	855	3	DCN	12	91558458	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3178370	91558458	42293437	245	27857											
UHRF1BP1L	23074	genome.wustl.edu	37	chr12	100433495	100433495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttcttcagatcatactttCcactggtcagcagcactgaa	10	13	7	11	0	4	2	3	1	1	1	5	2	5	2	1	1	3	3	1	1	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:100433495C>T	ENST00000279907.7	-	20	4366	c.4154G>A	c.(4153-4155)gGa>gAa	p.G1385E	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.G1035E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1385										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCATACTTTCCACTGGTCAG	0.438																																																	0													142	114	123					12																	100433495		2203	4300	6503	SO:0001583	missense	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4154G>A	12.37:g.100433495C>T	ENSP00000279907:p.Gly1385Glu		A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.G1385E	ENST00000279907.7	37	c.4154	CCDS31882.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.932|8.932	0.963577|0.963577	0.18583|0.18583	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000548712|ENST00000279907;ENST00000545232	.|T;T	.|0.09630	.|2.98;2.96	5.08|5.08	2.28|2.28	0.28536|0.28536	.|.	.|0.726633	.|0.12843	.|N	.|0.434643	T|T	0.05044|0.05044	0.0135|0.0135	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	0.999996|0.999996	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.45026|0.45026	-0.9289|-0.9289	5|10	.|0.05721	.|T	.|0.95	-3.5833|-3.5833	7.1955|7.1955	0.25849|0.25849	0.0:0.729:0.0:0.271|0.0:0.729:0.0:0.271	.|.	.|1385	.|A0JNW5	.|UH1BL_HUMAN	K|E	146|1385;1035	.|ENSP00000279907:G1385E;ENSP00000444824:G1035E	.|ENSP00000279907:G1385E	E|G	-|-	1|2	0|0	UHRF1BP1L|UHRF1BP1L	98957626|98957626	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.678000|0.678000	0.39670|0.39670	0.459000|0.459000	0.21908|0.21908	0.187000|0.187000	0.20147|0.20147	0.655000|0.655000	0.94253|0.94253	GAA|GGA	UHRF1BP1L	-	NULL	ENSG00000111647		0.438	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	-	0	34	0	C	NM_001006947		100433495	-1	tier1	-	no_errors	ENST00000279907	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.014	T	T	100433495	C	T	100433495	3	4	97	1	0	0	0	0	1	0	0	0	17018	855	30	3	248	3	UHRF1BP1L	12	100433495	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	8875037	100433495	33418400	246	27858											
TXNRD1	7296	genome.wustl.edu	37	chr12	104682731	104682731	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtcgggccctggaaggAacgctctcggaattggccgc	7	6	16	12	5	1	0	0	0	1	0	3	4	1	3	2	6	1	1	2	6	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:104682731A>C	ENST00000525566.1	+	4	351	c.327A>C	c.(325-327)ggA>ggC	p.G109G	TXNRD1_ENST00000388854.3_Silent_p.G11G|TXNRD1_ENST00000526691.1_Silent_p.G11G|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Silent_p.G58G|TXNRD1_ENST00000542918.1_Silent_p.G9G|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000429002.2_Silent_p.G109G	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	109	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CCCTGGAAGGAACGCTCTCGG	0.602																																					Ovarian(139;555 1836 9186 9946 10884)												0													106	111	110					12																	104682731		1904	4117	6021	SO:0001819	synonymous_variant	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.327A>C	12.37:g.104682731A>C			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.G109	ENST00000525566.1	37	c.327	CCDS53820.1	12																																																																																			TXNRD1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000198431		0.602	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389960.1	-	0	51	0	A	NM_003330		104682731	1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	silent	36.21	37	21	SNP	0.429	C	C	104682731	A	C	104682731	2	2	97	1	0	0	0	0	0	0	0	1	16856	233	9	4		4	TXNRD1	12	104682731	Silent	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	4249236	104682731	29169164	247	27859											
KSR2	283455	genome.wustl.edu	37	chr12	118298113	118298113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctccaggacctccttgcGcacatcgacgattcggaacc	9	7	8	17	4	0	0	0	0	0	0	4	4	2	2	5	2	2	1	5	2	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:118298113G>T	ENST00000339824.5	-	2	1031	c.304C>A	c.(304-306)Cgc>Agc	p.R102S	KSR2_ENST00000425217.1_Missense_Mutation_p.R73S			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	102					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTCCTTGCGCACATCGACG	0.637																																																	0													59	63	62					12																	118298113		1568	3582	5150	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.304C>A	12.37:g.118298113G>T	ENSP00000339952:p.Arg102Ser		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R102S	ENST00000339824.5	37	c.304		12	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240973	0.39598	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	T;T	0.76968	-1.05;-1.06	4.54	4.54	0.55810	.	.	.	.	.	T	0.77003	0.4067	N	0.16368	0.405	0.37729	D	0.925214	D	0.63880	0.993	P	0.62298	0.9	T	0.77245	-0.2659	9	0.27785	T	0.31	.	16.5648	0.84576	0.0:0.0:1.0:0.0	.	102	Q6VAB6	KSR2_HUMAN	S	73;102	ENSP00000389715:R73S;ENSP00000339952:R102S	ENSP00000339952:R102S	R	-	1	0	KSR2	116782496	1.000000	0.71417	0.997000	0.53966	0.723000	0.41478	5.967000	0.70403	2.514000	0.84764	0.313000	0.20887	CGC	KSR2	-	NULL	ENSG00000171435		0.637	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2		0	32	0	G	NM_173598		118298113	-1			no_errors	ENST00000339824	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	118298113	G	T	118298113	3	4	97	1	0	0	0	0	1	0	0	0	8610	1087	38	2	2624	2	KSR2	12	118298113	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	13615382	118298113	15553782	248	27860											
COQ5	84274	genome.wustl.edu	37	chr12	120960119	120960119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccaagactcatcatatCattcatcacatcatacttct	14	13	2	12	0	7	1	6	0	1	1	7	2	7	1	1	0	2	0	1	0	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:120960119C>A	ENST00000288532.6	-	2	290	c.250G>T	c.(250-252)Gat>Tat	p.D84Y	COQ5_ENST00000445328.2_Missense_Mutation_p.D84Y	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	84					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCATCATATCATTCATCACA	0.448																																																	0													237	196	210					12																	120960119		2203	4300	6503	SO:0001583	missense	0			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"		"coenzyme Q5 homolog, methyltransferase (yeast)"				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.250G>T	12.37:g.120960119C>A	ENSP00000288532:p.Asp84Tyr		B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase	p.D84Y	ENST00000288532.6	37	c.250	CCDS31912.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.219858	0.95139	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	5.91	5.91	0.95273	UbiE/COQ5 methyltransferase, conserved site (1);	0.085700	0.85682	D	0.000000	D	0.89227	0.6655	H	0.97516	4.02	0.45883	D	0.998736	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92222	0.5785	10	0.87932	D	0	.	19.905	0.97004	0.0:1.0:0.0:0.0	.	84;84	B4DP72;Q5HYK3	.;COQ5_HUMAN	Y	84;84;84;3;3;58	ENSP00000288532:D84Y;ENSP00000401798:D84Y;ENSP00000449863:D3Y;ENSP00000450001:D3Y;ENSP00000449933:D58Y	ENSP00000288532:D84Y	D	-	1	0	COQ5	119444502	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.594000	0.82698	2.804000	0.96469	0.462000	0.41574	GAT	COQ5	-	pfam_UbiE/COQ5_MeTrFase	ENSG00000110871		0.448	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ5	HGNC	protein_coding	OTTHUMT00000403767.2	-	0	41	0	C	NM_032314		120960119	-1	tier1	-	no_errors	ENST00000288532	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	A	A	120960119	C	A	120960119	3	1	97	1	0	0	0	0	1	0	0	0	3755	826	29	3	757	3	COQ5	12	120960119	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2662006	120960119	12891776	249	27861											
ACADS	35	genome.wustl.edu	37	chr12	121176101	121176101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcatcagtgccttcctgGtccccatgccaacgcctggg	6	8	12	15	1	1	0	1	0	0	0	3	0	3	0	6	3	3	1	6	3	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:121176101G>T	ENST00000242592.4	+	6	794	c.643G>T	c.(643-645)Gtc>Ttc	p.V215F	ACADS_ENST00000411593.2_Missense_Mutation_p.V211F|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	215					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	TGCCTTCCTGGTCCCCATGCC	0.607																																																	0													68	68	68					12																	121176101		2203	4300	6503	SO:0001583	missense	0			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.643G>T	12.37:g.121176101G>T	ENSP00000242592:p.Val215Phe		P78331	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.V215F	ENST00000242592.4	37	c.643	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342533	0.81911	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99660	-6.32;-5.38	4.64	4.64	0.57946	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	M	0.93462	3.42	0.80722	D	1	D;P;P	0.58268	0.982;0.939;0.939	P;P;P	0.55391	0.775;0.575;0.575	D	0.97776	1.0229	10	0.87932	D	0	.	17.4923	0.87708	0.0:0.0:1.0:0.0	.	211;215;215	E9PE82;E5KSD5;P16219	.;.;ACADS_HUMAN	F	215;211	ENSP00000242592:V215F;ENSP00000401045:V211F	ENSP00000242592:V215F	V	+	1	0	ACADS	119660484	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.370000	0.59517	2.145000	0.66743	0.462000	0.41574	GTC	ACADS	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000122971		0.607	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1		0	84	0	G	NM_000017		121176101	1			no_errors	ENST00000242592	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	121176101	G	T	121176101	3	4	97	1	0	0	0	0	1	0	0	0	114	1261	44	3	665	3	ACADS	12	121176101	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	215982	121176101	12675794	250	27862											
MORN3	283385	genome.wustl.edu	37	chr12	122091089	122091089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttcaaacagctggccGtggtccagatggaagaaacg	13	6	12	10	2	1	2	1	0	0	2	2	3	2	3	3	3	4	1	3	3	4	1	rs200057950		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:122091089G>T	ENST00000355329.3	-	4	710	c.540C>A	c.(538-540)caC>caA	p.H180Q		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	180						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		ACAGCTGGCCGTGGTCCAGAT	0.607																																																	0													69	59	63					12																	122091089		2203	4300	6503	SO:0001583	missense	0			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.540C>A	12.37:g.122091089G>T	ENSP00000347486:p.His180Gln		Q86YQ9	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.H180Q	ENST00000355329.3	37	c.540	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404296	0.42613	.	.	ENSG00000139714	ENST00000355329	T	0.40756	1.02	5.06	-9.42	0.00610	.	0.363718	0.29846	N	0.011059	T	0.08802	0.0218	N	0.01352	-0.895	0.20307	N	0.999917	B	0.34372	0.451	B	0.28991	0.097	T	0.34378	-0.9831	10	0.33141	T	0.24	.	5.9313	0.19140	0.6203:0.1106:0.1326:0.1366	.	180	Q6PF18	MORN3_HUMAN	Q	180	ENSP00000347486:H180Q	ENSP00000347486:H180Q	H	-	3	2	MORN3	120575472	0.008000	0.16893	0.198000	0.23420	0.701000	0.40568	-1.196000	0.03041	-1.653000	0.01500	-0.921000	0.02739	CAC	MORN3	-	NULL	ENSG00000139714		0.607	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	-	0	78	0	G	NM_173855		122091089	-1	tier1	-	no_errors	ENST00000355329	ensembl	human	known	74_37	missense	5.81	81	5	SNP	0.060	T	T	122091089	G	T	122091089	3	4	97	1	0	0	0	0	1	0	0	0	9747	1136	40	2	190	2	MORN3	12	122091089	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	914988	122091089	11760806	251	27863											
EP400	57634	genome.wustl.edu	37	chr12	132512792	132512792	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagtgagctgatgttgacGctttgtcggtgtggagagtc	7	12	15	7	2	0	4	0	3	0	1	2	5	0	4	1	2	1	3	1	2	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:132512792G>T	ENST00000333577.4	+	28	5557	c.5448G>T	c.(5446-5448)acG>acT	p.T1816T	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Silent_p.T1743T|EP400_ENST00000389561.2_Silent_p.T1780T|EP400_ENST00000389562.2_Silent_p.T1779T|EP400_ENST00000330386.6_Silent_p.T1699T			Q96L91	EP400_HUMAN	E1A binding protein p400	1816					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGATGTTGACGCTTTGTCGGT	0.572																																																	0													187	163	171					12																	132512792		2203	4300	6503	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5448G>T	12.37:g.132512792G>T			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1816	ENST00000333577.4	37	c.5448		12																																																																																			EP400	-	NULL	ENSG00000183495		0.572	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		-	0	39	0	G	NM_015409		132512792	1	tier1	-	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.000	T	T	132512792	G	T	132512792	2	4	97	1	0	0	0	0	0	0	0	1	5165	1074	38	2		2	EP400	12	132512792	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10421703	132512792	1339103	252	27864											
EP400	57634	genome.wustl.edu	37	chr12	132514632	132514632	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatgttggacattttaGagatgttcttgaacttccat	9	19	7	6	0	2	2	0	1	2	1	3	4	3	3	1	1	1	2	1	1	3	8			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:132514632G>T	ENST00000333577.4	+	30	5900	c.5791G>T	c.(5791-5793)Gag>Tag	p.E1931*	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Nonsense_Mutation_p.E1858*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E1895*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E1894*|EP400_ENST00000330386.6_Nonsense_Mutation_p.E1814*			Q96L91	EP400_HUMAN	E1A binding protein p400	1931	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGACATTTTAGAGATGTTCTT	0.403																																																	0													208	191	197					12																	132514632		2203	4300	6503	SO:0001587	stop_gained	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5791G>T	12.37:g.132514632G>T	ENSP00000333602:p.Glu1931*		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1931*	ENST00000333577.4	37	c.5791		12	.	.	.	.	.	.	.	.	.	.	G	47	13.771938	0.99762	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.4753	0.99175	0.0:0.0:1.0:0.0	.	.	.	.	X	1931;1895;1894;1858;1814;1895	.	ENSP00000330620:E1814X	E	+	1	0	EP400	131080585	1.000000	0.71417	0.204000	0.23530	0.917000	0.54804	9.869000	0.99810	2.844000	0.97970	0.650000	0.86243	GAG	EP400	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000183495		0.403	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0	25	0	G	NM_015409		132514632	1			no_errors	ENST00000333577	ensembl	human	known	74_37	nonsense	8.89	41	4	SNP	1.000	T	T	132514632	G	T	132514632	4	4	97	1	0	0	0	0	0	1	0	0	5165	943	33	3	5790	3	EP400	12	132514632	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1840	132514632	1337263	253	27865											
POLE	5426	genome.wustl.edu	37	chr12	133244227	133244227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcttcttgtaggctttccgGcagtaatctaagcacgacgg	9	12	10	10	3	3	0	0	0	3	0	4	1	4	0	1	3	1	5	1	3	3	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr12:133244227G>A	ENST00000320574.5	-	20	2224	c.2181C>T	c.(2179-2181)tgC>tgT	p.C727C	POLE_ENST00000535270.1_Silent_p.C700C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	727					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	AGGCTTTCCGGCAGTAATCTA	0.572								DNA polymerases (catalytic subunits)																																									0													265	219	234					12																	133244227		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2181C>T	12.37:g.133244227G>A			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.C727	ENST00000320574.5	37	c.2181	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.572	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2		0	29	0	G	NM_006231		133244227	-1			no_errors	ENST00000320574	ensembl	human	known	74_37	silent	7.69	36	3	SNP	1.000	A	A	133244227	G	A	133244227	2	1	97	1	0	0	0	0	0	0	0	1	12235	1195	42	3		3	POLE	12	133244227	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	729595	133244227	607668	254	27866											
LNX2	222484	genome.wustl.edu	37	chr13	28141833	28141833	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaatgaccccatcccGatagacctcctggatgacaa	11	8	8	14	1	1	3	0	2	1	1	3	5	3	4	5	2	0	1	5	2	3	1	rs555322411		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:28141833G>T	ENST00000316334.3	-	4	928	c.799C>A	c.(799-801)Cgg>Agg	p.R267R		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	267	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ACCCCATCCCGATAGACCTCC	0.428																																																	0													118	106	110					13																	28141833		2203	4300	6503	SO:0001819	synonymous_variant	0			AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"RING-type (C3HC4) zinc fingers"	20421	protein-coding gene	gene with protein product		609733	"PDZ domain containing ring finger 1"	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.799C>A	13.37:g.28141833G>T			Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.R267	ENST00000316334.3	37	c.799	CCDS9323.1	13																																																																																			LNX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000139517		0.428	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX2	HGNC	protein_coding	OTTHUMT00000044302.2	-	0	85	0	G			28141833	-1	tier1	-	no_errors	ENST00000316334	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	28141833	G	T	28141833	2	4	97	1	0	0	0	0	0	0	0	1	8896	1057	37	2		2	LNX2	13	28141833	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		28141833	87028045	255	27867											
TRPC4	7223	genome.wustl.edu	37	chr13	38237742	38237742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagaggtcccaggtgaGaatttgcagtaaacagtgag	12	10	13	6	0	0	3	0	2	0	2	1	4	1	3	1	2	3	3	1	2	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:38237742G>T	ENST00000379705.3	-	6	2356	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	TRPC4_ENST00000379681.3_Missense_Mutation_p.S500Y|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.S327Y|TRPC4_ENST00000379673.2_Missense_Mutation_p.S500Y|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.S327Y|TRPC4_ENST00000447043.1_Missense_Mutation_p.S500Y|TRPC4_ENST00000355779.2_Missense_Mutation_p.S500Y|TRPC4_ENST00000358477.2_Missense_Mutation_p.S500Y			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	500					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.S500Y(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCCAGGTGAGAATTTGCAGT	0.443																																																	2	Substitution - Missense(2)	large_intestine(2)											89	88	88					13																	38237742		2203	4300	6503	SO:0001583	missense	0			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.1499C>A	13.37:g.38237742G>T	ENSP00000369027:p.Ser500Tyr		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	p.S500Y	ENST00000379705.3	37	c.1499	CCDS9365.1	13	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893710	0.91889	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	D;D;D;D;D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99;-4.99	6.08	6.08	0.98989	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98488	0.9496	L	0.43554	1.36	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.997;1.0;0.999;1.0	D;D;D;D;D;D	0.85130	0.996;0.99;0.994;0.997;0.991;0.997	D	0.99698	1.1003	10	0.66056	D	0.02	-19.1072	20.6634	0.99662	0.0:0.0:1.0:0.0	.	500;500;500;327;500;500	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Y	500;500;327;327;500;500;500;500	ENSP00000369027:S500Y;ENSP00000369003:S500Y;ENSP00000342580:S327Y;ENSP00000369001:S327Y;ENSP00000348025:S500Y;ENSP00000351264:S500Y;ENSP00000368995:S500Y;ENSP00000414316:S500Y	ENSP00000342580:S327Y	S	-	2	0	TRPC4	37135742	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.860000	0.99555	2.894000	0.99253	0.655000	0.94253	TCT	TRPC4	-	pfam_Ion_trans_dom,tigrfam_TRP_channel	ENSG00000133107		0.443	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4	HGNC	protein_coding	OTTHUMT00000044574.2		0	40	0	G	NM_003306		38237742	-1			no_errors	ENST00000379681	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	T	T	38237742	G	T	38237742	3	4	97	1	0	0	0	0	1	0	0	0	16628	942	33	3	1473	3	TRPC4	13	38237742	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10095909	38237742	76932136	256	27868											
AKAP11	11215	genome.wustl.edu	37	chr13	42872778	42872779	+	Frame_Shift_Del	DEL	AC	AC	-																															atatgctactggtataaggtAcaccttggacacattcttgc																								rs2273951	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:42872778_42872779delAC	ENST00000025301.2	+	7	636_637	c.461_462delAC	c.(460-462)tacfs	p.Y154fs		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	154					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GGTATAAGGTACACCTTGGACA	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.461_462delAC	13.37:g.42872780_42872781delAC	ENSP00000025301:p.Tyr154fs		O75124|Q9NUK7	Frame_Shift_Del	DEL	NULL	p.T155fs	ENST00000025301.2	37	c.461_462	CCDS9383.1	13																																																																																			AKAP11	-	NULL	ENSG00000023516		0.401	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2		0	46	0	AC	NM_016248		42872779	1	tier1		no_errors	ENST00000025301	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	1.000:0.974	-	-	42872779	AC	-	42872778	7	5	97	1	0	1	0	1	0	0	0	0	447	391	14	0	479	0	AKAP11	13	42872778	Frame_Shift_Del	DEL	AC	TCGA-L7-A6VZ-01A-12D-A33E-09	4635036	42872778	72297100	257	27869											
ATP7B	540	genome.wustl.edu	37	chr13	52534322	52534322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagaagatgagatttaGaatggacagtcctggaatga	17	9	12	3	0	0	5	0	2	0	4	1	9	1	7	1	2	0	0	1	2	6	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:52534322G>T	ENST00000242839.4	-	7	2239	c.2083C>A	c.(2083-2085)Cta>Ata	p.L695I	ATP7B_ENST00000448424.2_Missense_Mutation_p.L695I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000417240.2_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.L695I|ATP7B_ENST00000400366.3_Missense_Mutation_p.L584I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	695					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATGAGATTTAGAATGGACAGT	0.473									Wilson disease																																								0													97	97	97					13																	52534322		1977	4152	6129	SO:0001583	missense	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"ATPases / P-type"	870	protein-coding gene	gene with protein product	"Wilson disease", "copper pump 2", "copper-transporting ATPase 2"	606882	"ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2083C>A	13.37:g.52534322G>T	ENSP00000242839:p.Leu695Ile		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.L695I	ENST00000242839.4	37	c.2083	CCDS41892.1	13	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105386	0.37145	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000448424;ENST00000418097	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.38	3.33	0.38152	.	0.131384	0.50627	D	0.000112	D	0.84252	0.5431	N	0.26042	0.785	0.80722	D	1	P;B;P;P;B	0.47545	0.897;0.053;0.569;0.562;0.103	P;B;B;P;B	0.51918	0.684;0.025;0.327;0.537;0.056	T	0.82059	-0.0645	10	0.51188	T	0.08	-4.2125	4.6439	0.12563	0.1325:0.0:0.4909:0.3766	.	695;695;695;584;695	E7ET55;B7ZLR4;F5H748;P35670-3;P35670	.;.;.;.;ATP7B_HUMAN	I	695;584;695;695	ENSP00000242839:L695I;ENSP00000383217:L584I;ENSP00000416738:L695I;ENSP00000393343:L695I	ENSP00000242839:L695I	L	-	1	2	ATP7B	51432323	0.955000	0.32602	0.979000	0.43373	0.995000	0.86356	0.925000	0.28791	1.242000	0.43836	0.563000	0.77884	CTA	ATP7B	-	NULL	ENSG00000123191		0.473	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	-	0	48	0	G	NM_000053		52534322	-1	tier1	-	no_errors	ENST00000242839	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.994	T	T	52534322	G	T	52534322	3	4	97	1	0	0	0	0	1	0	0	0	1192	933	33	3	2374	3	ATP7B	13	52534322	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9661544	52534322	62635556	258	27870											
TBC1D4	9882	genome.wustl.edu	37	chr13	75880522	75880522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtttaacaacttcttatcCcaagttattaagacctcttt	12	16	3	10	0	2	1	0	0	2	1	3	1	3	1	2	0	2	2	2	0	6	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:75880522C>A	ENST00000377636.3	-	15	3025	c.2679G>T	c.(2677-2679)tgG>tgT	p.W893C	TBC1D4_ENST00000431480.2_Missense_Mutation_p.W885C|TBC1D4_ENST00000425511.1_Intron|TBC1D4_ENST00000377625.2_Missense_Mutation_p.W830C	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	893					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ACTTCTTATCCCAAGTTATTA	0.333																																																	0													108	107	107					13																	75880522		1831	4080	5911	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2679G>T	13.37:g.75880522C>A	ENSP00000366863:p.Trp893Cys		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.W893C	ENST00000377636.3	37	c.2679	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313928	0.81358	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.04603	3.59;3.59;3.59	5.91	5.91	0.95273	Rab-GAP/TBC domain (1);	0.000000	0.64402	D	0.000002	T	0.24624	0.0597	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.00044	-1.2219	10	0.87932	D	0	-14.8144	20.2963	0.98556	0.0:1.0:0.0:0.0	.	830;885;893	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	C	893;885;830	ENSP00000366863:W893C;ENSP00000395986:W885C;ENSP00000366852:W830C	ENSP00000366852:W830C	W	-	3	0	TBC1D4	74778523	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.841000	0.75374	2.813000	0.96785	0.655000	0.94253	TGG	TBC1D4	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000136111		0.333	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	-	0	51	0	C	NM_014832		75880522	-1	tier1	-	no_errors	ENST00000377636	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	A	A	75880522	C	A	75880522	3	1	97	1	0	0	0	0	1	0	0	0	15669	624	22	3	1245	3	TBC1D4	13	75880522	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	23346200	75880522	39289356	259	27871											
EDNRB	1910	genome.wustl.edu	37	chr13	78474768	78474768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggaccaggcaaaagaCggttttggccacttcccgtc	11	7	11	12	2	0	1	0	0	0	1	2	3	1	2	3	4	0	2	3	4	3	3	rs201437745		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:78474768C>T	ENST00000334286.5	-	5	1209	c.973G>A	c.(973-975)Gtc>Atc	p.V325I	EDNRB_ENST00000446573.1_Missense_Mutation_p.V325I|EDNRB_ENST00000377211.4_Missense_Mutation_p.V415I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	325					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.V415I(1)|p.V325I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGGCAAAAGACGGTTTTGGCC	0.418																																																	2	Substitution - Missense(2)	lung(2)											90	97	95					13																	78474768		2203	4300	6503	SO:0001583	missense	0			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"GPCR / Class A : Endothelin receptors"	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.973G>A	13.37:g.78474768C>T	ENSP00000335311:p.Val325Ile		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.V325I	ENST00000334286.5	37	c.973	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.196762	0.94960	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.36878	1.23;1.23;1.23	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	M	0.73753	2.245	0.80722	D	1	D;P;D	0.76494	0.998;0.87;0.999	D;B;D	0.67900	0.923;0.292;0.954	T	0.64445	-0.6406	10	0.72032	D	0.01	-17.6334	19.5514	0.95322	0.0:1.0:0.0:0.0	.	325;415;325	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	415;325;325	ENSP00000366416:V415I;ENSP00000403401:V325I;ENSP00000335311:V325I	ENSP00000335311:V325I	V	-	1	0	EDNRB	77372769	1.000000	0.71417	0.558000	0.28319	0.981000	0.71138	7.445000	0.80570	2.705000	0.92388	0.650000	0.86243	GTC	EDNRB	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000136160		0.418	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1		0	57	0	C			78474768	-1			no_errors	ENST00000334286	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	78474768	C	T	78474768	3	4	97	1	0	0	0	0	1	0	0	0	4934	536	19	1	488	1	EDNRB	13	78474768	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2594246	78474768	36695110	260	27872											
FARP1	10160	genome.wustl.edu	37	chr13	99092216	99092216	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcttctcttgcccacagaTtgaggagagcgaagacgagt	11	10	11	9	2	2	4	0	1	2	3	3	7	2	4	1	1	2	0	1	1	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:99092216T>C	ENST00000319562.6	+	22	2700	c.2435T>C	c.(2434-2436)aTt>aCt	p.I812T	FARP1_ENST00000595437.1_Splice_Site_p.I843T|FARP1_ENST00000376586.2_Splice_Site_p.I843T	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	812	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGCCCACAGATTGAGGAGAGC	0.632																																																	0													147	163	157					13																	99092216		2203	4300	6503	SO:0001630	splice_region_variant	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"Rho guanine nucleotide exchange factors", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Pleckstrin homology (PH) domain containing"	3591	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 75"	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2434-1T>C	13.37:g.99092216T>C			Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.I843T	ENST00000319562.6	37	c.2528	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	T	11.39	1.623767	0.28889	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.78707	-1.2;-1.2	4.83	4.83	0.62350	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.195314	0.42821	D	0.000656	T	0.72922	0.3521	M	0.66939	2.045	0.80722	D	1	B;B	0.32653	0.379;0.014	B;B	0.30029	0.11;0.042	T	0.69829	-0.5039	10	0.17832	T	0.49	.	13.599	0.62007	0.0:0.0:0.0:1.0	.	812;843	Q9Y4F1;C9JME2	FARP1_HUMAN;.	T	843;812	ENSP00000365771:I843T;ENSP00000322926:I812T	ENSP00000322926:I812T	I	+	2	0	FARP1	97890217	1.000000	0.71417	0.629000	0.29254	0.307000	0.27823	8.040000	0.89188	1.824000	0.53156	0.533000	0.62120	ATT	FARP1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000152767		0.632	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0	27	0	T	NM_005766	Missense_Mutation	99092216	1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	78.95	4	15	SNP	0.997	C	C	99092216	T	C	99092216	5	2	97	1	0	0	0	0	0	0	1	0	5698	1507	52	4	2740	4	FARP1	13	99092216	Splice_Site	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	20617448	99092216	16077662	261	27873											
NALCN	259232	genome.wustl.edu	37	chr13	101936359	101936359	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaacctccagcagcatcTtcatgaaacatcttcaagac	13	9	5	14	0	4	2	2	1	2	1	5	2	5	2	3	0	5	2	3	0	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:101936359T>G	ENST00000251127.6	-	10	1140	c.1059A>C	c.(1057-1059)gaA>gaC	p.E353D	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.E353D	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	353					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGCAGCATCTTCATGAAACA	0.443																																																	0													39	39	39					13																	101936359		2203	4300	6503	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1059A>C	13.37:g.101936359T>G	ENSP00000251127:p.Glu353Asp		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E353D	ENST00000251127.6	37	c.1059	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	T	11.09	1.537686	0.27475	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98512	-4.54;-4.97	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.94208	0.8141	N	0.19112	0.55	0.80722	D	1	B;P;B	0.44478	0.013;0.836;0.226	B;B;B	0.38616	0.013;0.277;0.04	D	0.93402	0.6761	10	0.37606	T	0.19	.	10.1763	0.42941	0.0:0.0746:0.0:0.9254	.	353;353;353	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	D	353	ENSP00000251127:E353D;ENSP00000365367:E353D	ENSP00000251127:E353D	E	-	3	2	NALCN	100734360	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.440000	0.44855	2.131000	0.65755	0.443000	0.29094	GAA	NALCN	-	NULL	ENSG00000102452		0.443	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	63	0	T	NM_052867		101936359	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	63.16	14	24	SNP	1.000	G	G	101936359	T	G	101936359	3	3	97	1	0	0	0	0	1	0	0	0	10186	1606	56	4	4297	4	NALCN	13	101936359	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	2844143	101936359	13233519	262	27874											
GRTP1	79774	genome.wustl.edu	37	chr13	113980051	113980051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcgcaaatgtctggaacGctggtggcttccaaaatcaa	12	11	9	9	2	2	0	1	0	1	0	4	1	3	1	1	3	1	3	1	3	6	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:113980051G>T	ENST00000375431.4	-	7	920	c.846C>A	c.(844-846)agC>agA	p.S282R	GRTP1_ENST00000326039.3_Missense_Mutation_p.S204R|GRTP1_ENST00000375430.4_Missense_Mutation_p.S282R	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	282				S -> T (in Ref. 4; AAH33071). {ECO:0000305}.			Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			TGTCTGGAACGCTGGTGGCTT	0.493																																																	0													107	104	105					13																	113980051		2203	4300	6503	SO:0001583	missense	0			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.846C>A	13.37:g.113980051G>T	ENSP00000364580:p.Ser282Arg		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S282R	ENST00000375431.4	37	c.846	CCDS9534.2	13	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398356	0.25205	.	.	ENSG00000139835	ENST00000375431;ENST00000326039;ENST00000375430	T;T;T	0.24723	1.84;1.84;1.84	4.97	-0.264	0.12950	Rab-GAP/TBC domain (1);	0.358946	0.30519	N	0.009459	T	0.37237	0.0996	M	0.74258	2.255	0.21802	N	0.99954	P;D	0.58268	0.922;0.982	P;P	0.53185	0.683;0.72	T	0.31668	-0.9935	10	0.66056	D	0.02	.	10.7787	0.46365	0.428:0.0:0.572:0.0	.	282;282	B9A6K2;Q5TC63	.;GRTP1_HUMAN	R	282;204;282	ENSP00000364580:S282R;ENSP00000321850:S204R;ENSP00000364579:S282R	ENSP00000321850:S204R	S	-	3	2	GRTP1	113028052	0.003000	0.15002	0.088000	0.20740	0.030000	0.12068	-0.725000	0.04942	-0.048000	0.13401	0.462000	0.41574	AGC	GRTP1	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000139835		0.493	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	GRTP1	HGNC	protein_coding	OTTHUMT00000045882.5	-	0	45	0	G	NM_024719		113980051	-1	tier1	-	no_errors	ENST00000375430	ensembl	human	known	74_37	missense	22.22	14	4	SNP	0.097	T	T	113980051	G	T	113980051	3	4	97	1	0	0	0	0	1	0	0	0	6837	1078	38	2	172	2	GRTP1	13	113980051	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	12043692	113980051	1189827	263	27875											
RASA3	22821	genome.wustl.edu	37	chr13	114784304	114784304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtcagaagaaaacacgtGgtcttccgtgtataccacgt	13	10	9	9	3	2	2	1	0	1	2	3	2	3	2	2	1	2	1	2	1	6	4	rs140563204		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr13:114784304G>T	ENST00000334062.7	-	10	998	c.877C>A	c.(877-879)Cac>Aac	p.H293N	RASA3_ENST00000389544.4_Missense_Mutation_p.H261N|RASA3_ENST00000542651.1_3'UTR	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	293					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GAAAACACGTGGTCTTCCGTG	0.597																																																	0													129	113	118					13																	114784304		2203	4300	6503	SO:0001583	missense	0				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"Pleckstrin homology (PH) domain containing"	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.877C>A	13.37:g.114784304G>T	ENSP00000335029:p.His293Asn		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.H293N	ENST00000334062.7	37	c.877	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051431	0.36181	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	T;T	0.70516	-0.49;-0.49	4.78	4.78	0.61160	C2 calcium/lipid-binding domain, CaLB (1);Ras GTPase-activating protein (1);	0.099413	0.64402	D	0.000002	T	0.64238	0.2580	L	0.46741	1.465	0.80722	D	1	B	0.18166	0.026	B	0.13407	0.009	T	0.60052	-0.7338	9	.	.	.	.	16.5684	0.84604	0.0:0.0:1.0:0.0	.	293	Q14644	RASA3_HUMAN	N	293;261	ENSP00000335029:H293N;ENSP00000374195:H261N	.	H	-	1	0	RASA3	113802406	1.000000	0.71417	0.916000	0.36221	0.049000	0.14656	8.260000	0.89857	2.153000	0.67306	0.591000	0.81541	CAC	RASA3	-	superfamily_C2_dom,smart_RasGAP	ENSG00000185989		0.597	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	-	0	66	0	G	NM_007368		114784304	-1	tier1	-	no_errors	ENST00000334062	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	114784304	G	T	114784304	3	4	97	1	0	0	0	0	1	0	0	0	13107	1348	47	3	1687	3	RASA3	13	114784304	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	804253	114784304	385574	264	27876											
ARHGAP5	394	genome.wustl.edu	37	chr14	32561644	32561644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaagattatatcacgataGtaccaatatagataaagtta	18	13	5	5	1	1	2	1	0	0	2	1	3	1	2	1	0	1	2	1	0	11	9			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:32561644G>T	ENST00000345122.3	+	2	2084	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S590I|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S590I|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S590I	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	590					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCACGATAGTACCAATATA	0.373																																					NSCLC(9;77 350 3443 29227 41353)												0													73	72	72					14																	32561644		2203	4298	6501	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1769G>T	14.37:g.32561644G>T	ENSP00000371897:p.Ser590Ile		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.S590I	ENST00000345122.3	37	c.1769	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093351	0.56075	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.55481	1.735	0.80722	D	1	P;P	0.42456	0.78;0.673	P;B	0.47981	0.563;0.36	T	0.00043	-1.2223	10	0.51188	T	0.08	.	20.2504	0.98404	0.0:0.0:1.0:0.0	.	590;590	Q13017-2;Q13017	.;RHG05_HUMAN	I	590	ENSP00000452222:S590I;ENSP00000441692:S590I;ENSP00000371897:S590I;ENSP00000393307:S590I	ENSP00000371897:S590I	S	+	2	0	ARHGAP5	31631395	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.735000	0.84939	2.850000	0.98022	0.650000	0.86243	AGT	ARHGAP5	-	NULL	ENSG00000100852		0.373	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0	28	0	G	NM_001030055		32561644	1	tier1	-	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	32561644	G	T	32561644	3	4	97	1	0	0	0	0	1	0	0	0	886	1029	36	3	1771	3	ARHGAP5	14	32561644	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		32561644	74787896	265	27877											
LRFN5	145581	genome.wustl.edu	37	chr14	42355887	42355887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgaaagctcagatctGtccaaagcgttgtgtctgtc	10	11	11	9	1	3	2	1	1	2	1	5	2	4	2	1	0	3	3	1	0	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:42355887G>T	ENST00000298119.4	+	3	1248	c.59G>T	c.(58-60)tGt>tTt	p.C20F	LRFN5_ENST00000554120.1_Missense_Mutation_p.C20F|LRFN5_ENST00000554171.1_Missense_Mutation_p.C20F	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	20	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTCAGATCTGTCCAAAGCGT	0.383										HNSCC(30;0.082)																																							0													86	79	81					14																	42355887		2203	4300	6503	SO:0001583	missense	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	20360	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 8"	612811	"chromosome 14 open reading frame 146"	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.59G>T	14.37:g.42355887G>T	ENSP00000298119:p.Cys20Phe		B3KU78|Q86XL2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C20F	ENST00000298119.4	37	c.59	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199773	0.58126	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.62941	-0.01;0.02;0.01	5.56	5.56	0.83823	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.64402	D	0.000007	T	0.80121	0.4565	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.82279	-0.0536	10	0.87932	D	0	.	17.0193	0.86429	0.0:0.0:1.0:0.0	.	20;20	G3V364;Q96NI6	.;LRFN5_HUMAN	F	20	ENSP00000298119:C20F;ENSP00000451897:C20F;ENSP00000451067:C20F	ENSP00000298119:C20F	C	+	2	0	LRFN5	41425637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.595000	0.87683	0.650000	0.86243	TGT	LRFN5	-	NULL	ENSG00000165379		0.383	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	-	0	52	0	G	NM_152447		42355887	1	tier1	-	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	47.83	24	22	SNP	1.000	T	T	42355887	G	T	42355887	3	4	97	1	0	0	0	0	1	0	0	0	8976	1377	48	3	61	3	LRFN5	14	42355887	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9794243	42355887	64993653	266	27878											
C14orf28	122525	genome.wustl.edu	37	chr14	45369775	45369775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcagtatcctgtacacCactctatgttgaaataagac	15	10	6	10	0	1	2	0	1	1	1	2	2	2	2	2	0	2	4	2	0	6	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:45369775C>A	ENST00000325192.3	+	2	412	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	RP11-857B24.5_ENST00000555157.1_RNA|C14orf28_ENST00000557112.1_Missense_Mutation_p.P46Q	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	46										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TCCTGTACACCACTCTATGTT	0.368																																																	0													80	80	80					14																	45369775		2203	4300	6503	SO:0001583	missense	0			AA496212	CCDS32069.1	14q21.2	2012-08-16			ENSG00000179476	ENSG00000179476			19834	protein-coding gene	gene with protein product	"dopamine receptor interacting protein 1"						Standard	XM_005267316		Approved	DRIP-1	uc001wvo.3	Q4W4Y0	OTTHUMG00000170722	ENST00000325192.3:c.137C>A	14.37:g.45369775C>A	ENSP00000326846:p.Pro46Gln			Missense_Mutation	SNP	NULL	p.P46Q	ENST00000325192.3	37	c.137	CCDS32069.1	14	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177644	0.57692	.	.	ENSG00000179476	ENST00000325192;ENST00000557112	T;T	0.30714	1.52;1.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	N	0.19112	0.55	0.80722	D	1	P	0.51791	0.948	P	0.52481	0.7	T	0.09292	-1.0681	10	0.87932	D	0	.	17.7937	0.88562	0.0:1.0:0.0:0.0	.	46	Q4W4Y0	CN028_HUMAN	Q	46	ENSP00000326846:P46Q;ENSP00000451791:P46Q	ENSP00000326846:P46Q	P	+	2	0	C14orf28	44439525	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.452000	0.73485	2.878000	0.98634	0.650000	0.86243	CCA	C14orf28	-	NULL	ENSG00000179476		0.368	C14orf28-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	C14orf28	HGNC	protein_coding	OTTHUMT00000410086.1	-	0	72	0	C	NM_001017923		45369775	1	tier1	-	no_errors	ENST00000325192	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	45369775	C	A	45369775	3	1	97	1	0	0	0	0	1	0	0	0	1775	594	21	3	139	3	C14orf28	14	45369775	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	3013888	45369775	61979765	267	27879											
DLGAP5	9787	genome.wustl.edu	37	chr14	55649122	55649122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtctttggcctttgacCttgtaatccgtacagaagat	8	16	9	8	1	1	3	0	1	1	2	2	3	2	3	3	2	1	2	3	2	3	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:55649122C>A	ENST00000247191.2	-	4	677	c.461G>T	c.(460-462)aGg>aTg	p.R154M	DLGAP5_ENST00000395425.2_Missense_Mutation_p.R154M	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	154					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCCTTTGACCTTGTAATCCG	0.308																																																	0													188	177	181					14																	55649122		2203	4299	6502	SO:0001583	missense	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.461G>T	14.37:g.55649122C>A	ENSP00000247191:p.Arg154Met		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.R154M	ENST00000247191.2	37	c.461	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829523	0.71258	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	T;T;T	0.18338	2.22;2.22;2.22	4.98	4.98	0.66077	.	0.683242	0.14670	N	0.305386	T	0.43366	0.1244	M	0.77103	2.36	0.53688	D	0.999976	D;D	0.89917	1.0;0.999	D;D	0.71870	0.975;0.936	T	0.32824	-0.9892	10	0.87932	D	0	.	14.1018	0.65062	0.0:1.0:0.0:0.0	.	154;154	A8MTM6;Q15398	.;DLGP5_HUMAN	M	154	ENSP00000378815:R154M;ENSP00000247191:R154M;ENSP00000451747:R154M	ENSP00000247191:R154M	R	-	2	0	DLGAP5	54718875	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.697000	0.47060	2.472000	0.83506	0.491000	0.48974	AGG	DLGAP5	-	NULL	ENSG00000126787		0.308	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	-	0	85	0	C	NM_014750		55649122	-1	tier1	-	no_errors	ENST00000247191	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	55649122	C	A	55649122	3	1	97	1	0	0	0	0	1	0	0	0	4577	681	24	3	2238	3	DLGAP5	14	55649122	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	10279347	55649122	51700418	268	27880											
C14orf101	54916	genome.wustl.edu	37	chr14	57083906	57083906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattttttgtagggacaGacagaatccatcattagtat	13	16	7	5	0	1	2	1	0	0	2	2	3	2	3	1	1	0	2	1	1	6	8			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:57083906G>T	ENST00000261556.6	+	9	1069	c.947G>T	c.(946-948)aGa>aTa	p.R316I	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000553335.1_3'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.R316I	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	316						integral component of membrane (GO:0016021)											TGTAGGGACAGACAGAATCCA	0.264																																																	0													115	108	111					14																	57083906		2203	4297	6500	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.947G>T	14.37:g.57083906G>T	ENSP00000261556:p.Arg316Ile		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	pfam_DUF2723	p.R316I	ENST00000261556.6	37	c.947	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	G	6.990	0.552849	0.13374	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.54279	1.18;0.58	5.64	2.26	0.28386	.	0.319446	0.38548	N	0.001651	T	0.41994	0.1183	L	0.59436	1.845	0.43462	D	0.995662	P	0.34780	0.468	B	0.27500	0.08	T	0.30880	-0.9963	10	0.40728	T	0.16	-4.5045	8.9707	0.35905	0.4179:0.0:0.5821:0.0	.	316	Q9NX78	CN101_HUMAN	I	316	ENSP00000261556:R316I;ENSP00000441934:R316I	ENSP00000261556:R316I	R	+	2	0	C14orf101	56153659	0.002000	0.14202	0.953000	0.39169	0.073000	0.16967	0.084000	0.14891	0.685000	0.31468	0.563000	0.77884	AGA	TMEM260	-	NULL	ENSG00000070269		0.264	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM260	HGNC	protein_coding	OTTHUMT00000276924.1	-	0	67	0	G	NM_017799		57083906	1	tier1	-	no_errors	ENST00000261556	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.342	T	T	57083906	G	T	57083906	3	4	97	1	0	0	0	0	1	0	0	0	1739	942	33	3	981	3	C14orf101	14	57083906	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1434784	57083906	50265634	269	27881											
JDP2	122953	genome.wustl.edu	37	chr14	75899033	75899033	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgattctccaagattcatgGtagcaggtactatgcgccat	10	13	9	9	1	2	2	1	1	1	1	3	2	2	2	2	2	3	3	2	2	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:75899033G>T	ENST00000435893.2	+	1	250				JDP2_ENST00000419727.2_Intron|JDP2_ENST00000559773.1_Intron|JDP2_ENST00000437176.1_Intron|JDP2_ENST00000267569.5_Missense_Mutation_p.V2L	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2						negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	AAGATTCATGGTAGCAGGTAC	0.547																																																	0													215	208	211					14																	75899033		692	1591	2283	SO:0001627	intron_variant	0			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"basic leucine zipper proteins"	17546	protein-coding gene	gene with protein product	"progesterone receptor co-activator"	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.-24+3724G>T	14.37:g.75899033G>T			J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.V2L	ENST00000435893.2	37	c.4	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362727	0.24684	.	.	ENSG00000140044	ENST00000267569	T	0.56941	0.43	3.71	0.142	0.14816	.	.	.	.	.	T	0.41811	0.1175	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34104	-0.9842	6	0.37606	T	0.19	.	5.7323	0.18047	0.568:0.0:0.432:0.0	.	.	.	.	L	2	ENSP00000267569:V2L	ENSP00000267569:V2L	V	+	1	0	JDP2	74968786	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	0.009000	0.13219	0.011000	0.14865	-0.345000	0.07892	GTA	JDP2	-	NULL	ENSG00000140044		0.547	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	-	0	68	0	G	NM_130469		75899033	1	tier1	-	no_errors	ENST00000267569	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.001	T	T	75899033	G	T	75899033	1	4	97	0	1	0	0	0	0	0	0	0	7974	1261	44	3		3	JDP2	14	75899033	Intron	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	18815127	75899033	31450507	270	27882											
NRXN3	9369	genome.wustl.edu	37	chr14	80328022	80328022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaaccccacggagccGggaatcagacgggttccggg	11	3	14	13	4	1	1	1	0	0	1	2	3	2	3	4	4	3	2	4	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:80328022G>A	ENST00000557594.1	+	6	2582	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	NRXN3_ENST00000335750.5_Silent_p.P967P|NRXN3_ENST00000554719.1_Silent_p.P967P|NRXN3_ENST00000428277.2_Silent_p.P365P|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Silent_p.P338P	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	543					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCACGGAGCCGGGAATCAGAC	0.597																																																	0													37	41	39					14																	80328022		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1629G>A	14.37:g.80328022G>A			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.P967	ENST00000557594.1	37	c.2901		14																																																																																			NRXN3	-	NULL	ENSG00000021645		0.597	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0	42	0	G	NM_001105250		80328022	1	tier1	-	no_errors	ENST00000335750	ensembl	human	known	74_37	silent	59.52	17	25	SNP	0.969	A	A	80328022	G	A	80328022	2	1	97	1	0	0	0	0	0	0	0	1	10706	1103	39	1		1	NRXN3	14	80328022	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4428989	80328022	27021518	271	27883											
SEL1L	6400	genome.wustl.edu	37	chr14	81943463	81943463	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgcaatgatggtcatgagGtaaaggtcccactcaggtcc	11	8	12	10	1	2	2	2	2	0	0	4	2	4	2	2	4	1	2	2	4	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:81943463G>T	ENST00000336735.4	-	21	2354	c.2238C>A	c.(2236-2238)taC>taA	p.Y746*		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	746	Mediates retention to the endoplasmic reticulum.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGGTCATGAGGTAAAGGTCCC	0.473																																																	0													116	106	109					14																	81943463		2203	4300	6503	SO:0001587	stop_gained	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"sel-1 suppressor of lin-12-like 1 (C. elegans)"	602329	"sel-1 (suppressor of lin-12, C.elegans)-like"			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2238C>A	14.37:g.81943463G>T	ENSP00000337053:p.Tyr746*		Q6UWT6|Q9P1T9|Q9UHK7	Nonsense_Mutation	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.Y746*	ENST00000336735.4	37	c.2238	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.711881	0.98447	.	.	ENSG00000071537	ENST00000336735	.	.	.	5.72	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6479	0.77068	0.0689:0.0:0.9311:0.0	.	.	.	.	X	746	.	ENSP00000337053:Y746X	Y	-	3	2	SEL1L	81013216	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.044000	0.71012	2.865000	0.98341	0.655000	0.94253	TAC	SEL1L	-	NULL	ENSG00000071537		0.473	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1		0	62	0	G	NM_005065		81943463	-1			no_errors	ENST00000336735	ensembl	human	known	74_37	nonsense	5.45	52	3	SNP	1.000	T	T	81943463	G	T	81943463	4	4	97	1	0	0	0	0	0	1	0	0	14055	1256	44	3	150	3	SEL1L	14	81943463	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1615441	81943463	25406077	272	27884											
FLRT2	23768	genome.wustl.edu	37	chr14	86088429	86088429	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagagtggatgaaaatCgaattgctgtcatatccgac	13	10	11	7	2	1	2	1	2	0	1	3	6	2	3	1	1	2	2	1	1	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:86088429C>A	ENST00000330753.4	+	2	1338	c.571C>A	c.(571-573)Cga>Aga	p.R191R	FLRT2_ENST00000554746.1_Silent_p.R191R	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	191					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGATGAAAATCGAATTGCTGT	0.498																																																	0													97	98	98					14																	86088429		2203	4300	6503	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.571C>A	14.37:g.86088429C>A			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.R191	ENST00000330753.4	37	c.571	CCDS9877.1	14																																																																																			FLRT2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185070		0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1		0	36	0	C			86088429	1			no_errors	ENST00000330753	ensembl	human	known	74_37	silent	6.67	28	2	SNP	1.000	A	A	86088429	C	A	86088429	2	1	97	1	0	0	0	0	0	0	0	1	5961	876	31	2		2	FLRT2	14	86088429	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	4144966	86088429	21261111	273	27885											
DICER1	23405	genome.wustl.edu	37	chr14	95590807	95590807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacaaatttcaggtcaaGtgaggcaggtgagaagtgct	13	10	13	5	0	2	2	2	2	0	1	2	3	2	2	0	3	2	3	0	3	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:95590807G>T	ENST00000526495.1	-	10	1393	c.1102C>A	c.(1102-1104)Ctt>Att	p.L368I	DICER1_ENST00000541352.1_Missense_Mutation_p.L368I|DICER1_ENST00000393063.1_Missense_Mutation_p.L368I|DICER1_ENST00000343455.3_Missense_Mutation_p.L368I|DICER1_ENST00000527414.1_Missense_Mutation_p.L368I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	368	Required for interaction with PRKRA and TARBP2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.L368V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCAGGTCAAGTGAGGCAGGT	0.393			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"dicer 1, ribonuclease type III "		"E, M, O"	1	Substitution - Missense(1)	lung(1)											144	146	145					14																	95590807		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"dicer 1, double-stranded RNA-specific endoribonuclease"	606241	"Dicer1, Dcr-1 homolog (Drosophila)", "multinodular goitre 1"	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1102C>A	14.37:g.95590807G>T	ENSP00000437256:p.Leu368Ile		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.L368I	ENST00000526495.1	37	c.1102	CCDS9931.1	14	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236604	0.58886	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	L	0.47716	1.5	0.58432	D	0.999999	B	0.31968	0.349	B	0.28638	0.092	T	0.25467	-1.0131	10	0.17832	T	0.49	-20.397	19.4888	0.95042	0.0:0.0:1.0:0.0	.	368	Q9UPY3	DICER_HUMAN	I	368	ENSP00000343745:L368I;ENSP00000437256:L368I;ENSP00000376783:L368I;ENSP00000435681:L368I;ENSP00000444719:L368I	ENSP00000343745:L368I	L	-	1	0	DICER1	94660560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.607000	0.88179	0.585000	0.79938	CTT	DICER1	-	superfamily_P-loop_NTPase	ENSG00000100697		0.393	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1		0	23	0	G			95590807	-1			no_errors	ENST00000343455	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	T	T	95590807	G	T	95590807	3	4	97	1	0	0	0	0	1	0	0	0	4535	1029	36	3	4746	3	DICER1	14	95590807	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9502378	95590807	11758733	274	27886											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102505786	102505786	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccctccagtttttccTggacatttatcacaacgtcc	8	14	5	14	1	1	0	1	0	0	0	5	1	5	1	4	1	2	2	4	1	3	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr14:102505786T>A	ENST00000360184.4	+	61	11662	c.11498T>A	c.(11497-11499)cTg>cAg	p.L3833Q	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3833					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGTTTTTCCTGGACATTTAT	0.532																																																	0													92	86	88					14																	102505786		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.11498T>A	14.37:g.102505786T>A	ENSP00000348965:p.Leu3833Gln		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.L3833Q	ENST00000360184.4	37	c.11498	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	T	31	5.080944	0.94050	.	.	ENSG00000197102	ENST00000360184	T	0.66280	-0.2	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.83726	0.0195	10	0.56958	D	0.05	.	16.1728	0.81831	0.0:0.0:0.0:1.0	.	3833	Q14204	DYHC1_HUMAN	Q	3833	ENSP00000348965:L3833Q	ENSP00000348965:L3833Q	L	+	2	0	DYNC1H1	101575539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.228000	0.72767	0.533000	0.62120	CTG	DYNC1H1	-	NULL	ENSG00000197102		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	44	0	T	NM_001376		102505786	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A	A	102505786	T	A	102505786	3	1	97	1	0	0	0	0	1	0	0	0	4855	1580	55	5	11740	5	DYNC1H1	14	102505786	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	6914979	102505786	4843754	275	27887											
OR4N4	283694	genome.wustl.edu	37	chr15	22383120	22383120	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctttctggggcttctggcTtcctatgcagtcatcctctg	3	16	10	12	0	4	0	1	0	3	0	6	0	6	0	2	3	2	4	2	3	1	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:22383120T>G	ENST00000328795.4	+	1	739	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTTCTGGCTTCCTATGCAG	0.502																																																	0													145	119	128					15																	22383120		2194	4262	6456	SO:0001819	synonymous_variant	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"GPCR / Class A : Olfactory receptors"	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.648T>G	15.37:g.22383120T>G			Q6IEY3|Q6IF56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A216	ENST00000328795.4	37	c.648	CCDS32173.1	15																																																																																			OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183706		0.502	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	-	0	121	0	T			22383120	1	tier1	-	no_errors	ENST00000328795	ensembl	human	known	74_37	silent	10.47	77	9	SNP	0.000	G	G	22383120	T	G	22383120	2	3	97	1	0	0	0	0	0	0	0	1	11117	1596	56	4		4	OR4N4	15	22383120	Silent	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09		22383120	80148272	276	27888											
APBA2	321	genome.wustl.edu	37	chr15	29346366	29346366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagggcctccctgaggaGgaggagggcatcacctacta	10	5	15	11	1	1	1	1	1	0	0	2	6	2	4	3	5	1	1	3	5	2	2	rs367796388		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:29346366G>T	ENST00000558402.1	+	5	878	c.279G>T	c.(277-279)gaG>gaT	p.E93D	APBA2_ENST00000411764.1_Missense_Mutation_p.E93D|APBA2_ENST00000561069.1_Missense_Mutation_p.E93D|APBA2_ENST00000558330.1_Missense_Mutation_p.E93D|APBA2_ENST00000558259.1_Missense_Mutation_p.E93D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	93	Poly-Glu.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCCCTGAGGAGGAGGAGGGCA	0.602																																																	0													148	133	138					15																	29346366		2203	4300	6503	SO:0001583	missense	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.279G>T	15.37:g.29346366G>T	ENSP00000453293:p.Glu93Asp		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.E93D	ENST00000558402.1	37	c.279	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654547	0.67472	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.50277	0.75	5.25	0.697	0.18081	.	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.68952	2.095	0.46874	D	0.999235	D;D;D	0.76494	0.999;0.995;0.998	D;D;D	0.77557	0.99;0.98;0.985	T	0.53613	-0.8414	10	0.32370	T	0.25	.	8.0618	0.30638	0.5196:0.0:0.4804:0.0	.	93;93;93	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	D	93	ENSP00000409312:E93D	ENSP00000219865:E93D	E	+	3	2	APBA2	27133658	0.994000	0.37717	0.999000	0.59377	0.981000	0.71138	0.325000	0.19628	0.222000	0.20900	-0.142000	0.14014	GAG	APBA2	-	NULL	ENSG00000034053		0.602	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	-	0	56	0	G	NM_005503		29346366	1	tier1	-	no_errors	ENST00000558259	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.997	T	T	29346366	G	T	29346366	3	4	97	1	0	0	0	0	1	0	0	0	757	991	35	3	281	3	APBA2	15	29346366	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6963246	29346366	73185026	277	27889											
CHRNA7	1139	genome.wustl.edu	37	chr15	32460285	32460285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgtggcgccgccgcccGccagcaacgggaacctgctg	5	3	15	18	7	0	0	0	0	0	0	0	1	0	1	6	2	4	2	6	2	2	0	rs573369306		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:32460285G>A	ENST00000306901.3	+	10	1232	c.1135G>A	c.(1135-1137)Gcc>Acc	p.A379T	CHRNA7_ENST00000455693.2_Missense_Mutation_p.A198T|CHRNA7_ENST00000454250.3_Missense_Mutation_p.A408T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	379					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCCGCCCGCCAGCAACGG	0.716																																					Esophageal Squamous(193;529 2900 40232 43193)												0													16	24	21					15																	32460285		2179	4281	6460	SO:0001583	missense	0			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1960	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 7 (neuronal)"	118511	"cholinergic receptor, nicotinic, alpha polypeptide 7"			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1135G>A	15.37:g.32460285G>A	ENSP00000303727:p.Ala379Thr		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A408T	ENST00000306901.3	37	c.1222	CCDS10027.1	15	.	.	.	.	.	.	.	.	.	.	g	3.425	-0.117298	0.06838	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.19669	2.13;2.13;2.13	3.84	-0.555	0.11807	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.523290	0.01582	N	0.021155	T	0.08179	0.0204	N	0.03000	-0.44	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.20505	-1.0273	10	0.12766	T	0.61	.	3.6481	0.08192	0.494:0.0:0.3237:0.1823	.	408;379	B4DFS0;P36544	.;ACHA7_HUMAN	T	289;408;379;198	ENSP00000407546:A408T;ENSP00000303727:A379T;ENSP00000405989:A198T	ENSP00000303727:A379T	A	+	1	0	CHRNA7	30247577	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.094000	0.11094	-0.091000	0.12440	0.650000	0.86243	GCC	CHRNA7	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000175344		0.716	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHRNA7	HGNC	protein_coding	OTTHUMT00000251410.2	-	0	113	0	G			32460285	1	tier1	-	no_errors	ENST00000454250	ensembl	human	known	74_37	missense	21.43	66	18	SNP	0.028	A	A	32460285	G	A	32460285	3	1	97	1	0	0	0	0	1	0	0	0	3395	1087	38	1	1173	1	CHRNA7	15	32460285	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3113919	32460285	70071107	278	27890											
SPRED1	161742	genome.wustl.edu	37	chr15	38643390	38643390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagttttctaaaccagacaGtaaaaaatcagactatctgt	16	12	5	8	0	4	2	2	0	2	2	4	2	4	2	1	0	1	2	1	0	6	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:38643390G>T	ENST00000299084.4	+	7	1720	c.860G>T	c.(859-861)aGt>aTt	p.S287I		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	287					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAACCAGACAGTAAAAAATCA	0.383									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0													79	79	79					15																	38643390		2200	4297	6497	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 147"	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.860G>T	15.37:g.38643390G>T	ENSP00000299084:p.Ser287Ile		B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.S287I	ENST00000299084.4	37	c.860	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	10.96	1.498575	0.26861	.	.	ENSG00000166068	ENST00000299084	D	0.85339	-1.97	5.93	0.795	0.18643	.	0.188255	0.64402	D	0.000002	T	0.77405	0.4125	L	0.50333	1.59	0.41499	D	0.988276	B	0.26400	0.148	B	0.23852	0.049	T	0.68754	-0.5325	10	0.54805	T	0.06	-2.45	6.7643	0.23558	0.3167:0.1112:0.5721:0.0	.	287	Q7Z699	SPRE1_HUMAN	I	287	ENSP00000299084:S287I	ENSP00000299084:S287I	S	+	2	0	SPRED1	36430682	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.237000	0.32695	0.128000	0.18479	0.644000	0.83932	AGT	SPRED1	-	NULL	ENSG00000166068		0.383	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1	-	0	81	0	G			38643390	1	tier1	-	no_errors	ENST00000299084	ensembl	human	known	74_37	missense	5.68	83	5	SNP	1.000	T	T	38643390	G	T	38643390	3	4	97	1	0	0	0	0	1	0	0	0	15139	1029	36	3	886	3	SPRED1	15	38643390	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6183105	38643390	63888002	279	27891											
CASC5	57082	genome.wustl.edu	37	chr15	40917434	40917434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatctttttgcctagattgCccaacaagagaaattgtagt	13	13	8	7	0	1	2	0	0	1	2	1	4	1	2	2	0	3	1	2	0	6	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:40917434C>T	ENST00000346991.5	+	11	5440	c.5050C>T	c.(5050-5052)Ccc>Tcc	p.P1684S	CASC5_ENST00000399668.2_Missense_Mutation_p.P1658S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1684					acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCCTAGATTGCCCAACAAGAG	0.403																																																	0													127	123	124					15																	40917434		1844	4089	5933	SO:0001583	missense	0			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	24054	protein-coding gene	gene with protein product	"cancer/testis antigen 29", "kinetochore null 1 homolog (C. elegans)", "blinkin, bub-linking kinetochore protein", "protein phosphatase 1, regulatory subunit 55"	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.5050C>T	15.37:g.40917434C>T	ENSP00000335463:p.Pro1684Ser		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	NULL	p.P1684S	ENST00000346991.5	37	c.5050	CCDS42023.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384458	0.82792	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.24538	1.85;1.85	5.47	5.47	0.80525	.	0.000000	0.49916	D	0.000137	T	0.52500	0.1738	M	0.68952	2.095	0.44241	D	0.997086	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.53662	-0.8407	10	0.87932	D	0	.	19.3851	0.94553	0.0:1.0:0.0:0.0	.	1658;1684;1658	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	S	1684;1658;1658	ENSP00000335463:P1684S;ENSP00000382576:P1658S	ENSP00000260369:P1658S	P	+	1	0	CASC5	38704726	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.066000	0.64351	2.594000	0.87642	0.454000	0.30748	CCC	CASC5	-	NULL	ENSG00000137812		0.403	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CASC5	HGNC	protein_coding	OTTHUMT00000390224.2	-	0	60	0	C	NM_144508		40917434	1	tier1	-	no_errors	ENST00000346991	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	40917434	C	T	40917434	3	4	97	1	0	0	0	0	1	0	0	0	2670	739	26	3	5088	3	CASC5	15	40917434	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2274044	40917434	61613958	280	27892											
CAPN3	825	genome.wustl.edu	37	chr15	42679958	42679958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcttctgtgcagttctggcGctatggagagtgggtggacg	5	11	17	8	3	2	1	0	0	2	1	2	3	2	2	0	4	1	4	0	4	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:42679958G>T	ENST00000397163.3	+	4	725	c.506G>T	c.(505-507)cGc>cTc	p.R169L	CAPN3_ENST00000318023.7_Missense_Mutation_p.R169L|CAPN3_ENST00000357568.3_Missense_Mutation_p.R169L|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.R82L|CAPN3_ENST00000349748.3_Missense_Mutation_p.R169L	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	169	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGTTCTGGCGCTATGGAGAG	0.493																																																	0													299	244	263					15																	42679958		2203	4299	6502	SO:0001583	missense	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.506G>T	15.37:g.42679958G>T	ENSP00000380349:p.Arg169Leu		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R169L	ENST00000397163.3	37	c.506	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027542	0.93518	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47	5.97	5.97	0.96955	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.94489	0.8226	M	0.72576	2.205	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.995	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;0.973	D	0.94188	0.7438	10	0.87932	D	0	.	20.434	0.99088	0.0:0.0:1.0:0.0	.	82;82;169;169;169;82	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	L	82;169;169;169;169	ENSP00000348667:R82L;ENSP00000380349:R169L;ENSP00000350181:R169L;ENSP00000183936:R169L;ENSP00000326281:R169L	ENSP00000326281:R169L	R	+	2	0	CAPN3	40467250	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.837000	0.99465	2.838000	0.97847	0.561000	0.74099	CGC	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000092529		0.493	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	-	0	50	0	G			42679958	1	tier1	-	no_errors	ENST00000397163	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	42679958	G	T	42679958	3	4	97	1	0	0	0	0	1	0	0	0	2635	1087	38	2	572	2	CAPN3	15	42679958	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1762524	42679958	59851434	281	27893											
UBR1	197131	genome.wustl.edu	37	chr15	43330047	43330047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaccagacaacgtaaaGgatattccactagtacctct	15	8	5	13	1	1	1	0	0	1	1	2	2	2	2	4	1	3	2	4	1	7	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:43330047G>T	ENST00000290650.4	-	17	2024	c.1946C>A	c.(1945-1947)cCt>cAt	p.P649H	UBR1_ENST00000382177.2_Missense_Mutation_p.P649H	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	649					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACAACGTAAAGGATATTCCAC	0.408																																																	0													96	79	85					15																	43330047		2203	4299	6502	SO:0001583	missense	0				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"Ubiquitin protein ligase E3 component n-recognins"	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1946C>A	15.37:g.43330047G>T	ENSP00000290650:p.Pro649His		O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P649H	ENST00000290650.4	37	c.1946	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620012	0.87460	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.49720	0.77;0.77	4.92	4.92	0.64577	.	0.058371	0.64402	D	0.000002	T	0.69602	0.3129	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;P	0.74023	0.982;0.887	T	0.73251	-0.4042	10	0.87932	D	0	-20.7357	18.6694	0.91506	0.0:0.0:1.0:0.0	.	649;649	B4DYL2;Q8IWV7	.;UBR1_HUMAN	H	649	ENSP00000290650:P649H;ENSP00000371612:P649H	ENSP00000290650:P649H	P	-	2	0	UBR1	41117339	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.931000	0.92884	2.712000	0.92718	0.563000	0.77884	CCT	UBR1	-	NULL	ENSG00000159459		0.408	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1		0	46	0	G	NM_174916		43330047	-1			no_errors	ENST00000290650	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T	T	43330047	G	T	43330047	3	4	97	1	0	0	0	0	1	0	0	0	16950	1000	35	3	3427	3	UBR1	15	43330047	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	650089	43330047	59201345	282	27894											
PPIP5K1	9677	genome.wustl.edu	37	chr15	43851030	43851030	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcatcagtgtggcgctgGcagactctactcaagaattc	9	10	12	10	1	3	2	2	0	1	2	4	2	3	2	0	3	1	3	0	3	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:43851030G>T	ENST00000396923.3	-	28	3469	c.3348C>A	c.(3346-3348)tgC>tgA	p.C1116*	PPIP5K1_ENST00000334933.4_Nonsense_Mutation_p.C1091*|PPIP5K1_ENST00000360135.4_Nonsense_Mutation_p.C1049*|PPIP5K1_ENST00000381885.1_Nonsense_Mutation_p.C1112*|PPIP5K1_ENST00000420765.1_Nonsense_Mutation_p.C1116*|PPIP5K1_ENST00000381879.4_Nonsense_Mutation_p.C1092*|PPIP5K1_ENST00000360301.4_Nonsense_Mutation_p.C1091*|PPIP5K1_ENST00000348806.6_Nonsense_Mutation_p.C1049*			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1116					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						TGTGGCGCTGGCAGACTCTAC	0.493																																																	0													129	111	117					15																	43851030		2201	4298	6499	SO:0001587	stop_gained	0			AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"histidine acid phosphatase domain containing 2A"	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3348C>A	15.37:g.43851030G>T	ENSP00000380129:p.Cys1116*		O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Nonsense_Mutation	SNP	pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF	p.C1116*	ENST00000396923.3	37	c.3348	CCDS45252.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.530490|6.530490	0.97641|0.97641	.|.	.|.	ENSG00000168781|ENSG00000168781	ENST00000439195|ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.33030|.	0.0849|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33317|.	-0.9873|.	3|.	.|0.02654	.|T	.|1	-10.7309|-10.7309	12.5766|12.5766	0.56367|0.56367	0.0751:0.0:0.9249:0.0|0.0751:0.0:0.9249:0.0	.|.	.|.	.|.	.|.	D|X	196|1112;1091;1049;1091;1116;1116;1091;1116;1092;1049	.|.	.|ENSP00000304750:C1116X	A|C	-|-	2|3	0|2	PPIP5K1|PPIP5K1	41638322|41638322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.823000|3.823000	0.55715|0.55715	2.813000|2.813000	0.96785|0.96785	0.655000|0.655000	0.94253|0.94253	GCC|TGC	PPIP5K1	-	NULL	ENSG00000168781		0.493	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PPIP5K1	HGNC	protein_coding	OTTHUMT00000132907.1		0	51	0	G	NM_014659		43851030	-1			no_errors	ENST00000420765	ensembl	human	known	74_37	nonsense	6.15	60	4	SNP	1.000	T	T	43851030	G	T	43851030	4	4	97	1	0	0	0	0	0	1	0	0	12374	1195	42	3	1089	3	PPIP5K1	15	43851030	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	520983	43851030	58680362	283	27895											
DUOX1	53905	genome.wustl.edu	37	chr15	45444628	45444628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctcatcaccttcctgcGagaaaccttcctcaaccgct	10	9	4	18	2	3	1	3	0	0	1	5	2	5	1	6	0	4	1	6	0	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:45444628G>T	ENST00000321429.4	+	26	3745	c.3338G>T	c.(3337-3339)cGa>cTa	p.R1113L	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.R1113L|DUOX1_ENST00000561166.1_Missense_Mutation_p.R759L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1113	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACCTTCCTGCGAGAAACCTTC	0.607																																																	0													218	167	184					15																	45444628		2198	4298	6496	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3338G>T	15.37:g.45444628G>T	ENSP00000317997:p.Arg1113Leu		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.R1113L	ENST00000321429.4	37	c.3338	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021351	0.93462	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.96300	-3.97;-3.97	4.21	4.21	0.49690	Flavoprotein transmembrane component (1);	0.110552	0.64402	D	0.000010	D	0.98757	0.9582	H	0.97240	3.965	0.80722	D	1	D;P	0.89917	1.0;0.463	D;B	0.91635	0.999;0.378	D	0.99136	1.0854	10	0.87932	D	0	-6.6651	14.4288	0.67236	0.0:0.0:1.0:0.0	.	246;1113	Q9NT13;Q9NRD9	.;DUOX1_HUMAN	L	1113	ENSP00000317997:R1113L;ENSP00000373689:R1113L	ENSP00000317997:R1113L	R	+	2	0	DUOX1	43231920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.522000	0.98032	2.325000	0.78763	0.650000	0.86243	CGA	DUOX1	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000137857		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	-	0	60	0	G	NM_017434		45444628	1	tier1	-	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T	T	45444628	G	T	45444628	3	4	97	1	0	0	0	0	1	0	0	0	4814	1058	37	2	3432	2	DUOX1	15	45444628	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1593598	45444628	57086764	284	27896											
ZNF609	23060	genome.wustl.edu	37	chr15	64792330	64792330	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaggaaggggagaatGagtgtcgcctgctaaagaaa	15	5	15	6	1	0	4	0	1	0	3	1	6	0	5	2	3	2	1	2	3	5	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:64792330G>T	ENST00000326648.3	+	1	840	c.712G>T	c.(712-714)Gag>Tag	p.E238*	ZNF609_ENST00000416172.1_Nonsense_Mutation_p.E238*	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	238						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGGGAGAATGAGTGTCGCCT	0.537																																																	0													46	43	44					15																	64792330		2203	4296	6499	SO:0001587	stop_gained	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.712G>T	15.37:g.64792330G>T	ENSP00000316527:p.Glu238*		Q0D2I2	Nonsense_Mutation	SNP	pfscan_Znf_C2H2	p.E238*	ENST00000326648.3	37	c.712	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	.	37	6.425288	0.97555	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	.	.	.	5.66	5.66	0.87406	.	0.058733	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-15.9181	20.0989	0.97860	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000316527:E238X	E	+	1	0	ZNF609	62579383	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.140000	0.94607	2.830000	0.97506	0.655000	0.94253	GAG	ZNF609	-	NULL	ENSG00000180357		0.537	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1	-	0	55	0	G	XM_042833		64792330	1	tier1	-	no_errors	ENST00000326648	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	T	T	64792330	G	T	64792330	4	4	97	1	0	0	0	0	0	1	0	0	18083	1291	45	3	714	3	ZNF609	15	64792330	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	19347702	64792330	37739062	285	27897											
IQCH	64799	genome.wustl.edu	37	chr15	67571788	67571788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttccctcaggaatctgagGgtacattttggcaaccccaa	10	12	8	11	0	2	1	1	1	1	0	3	2	3	2	3	3	2	2	3	3	4	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:67571788G>T	ENST00000335894.4	+	4	391	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Missense_Mutation_p.G109C|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	109										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGAATCTGAGGGTACATTTTG	0.348																																																	0													53	51	52					15																	67571788		2201	4299	6500	SO:0001583	missense	0			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.325G>T	15.37:g.67571788G>T	ENSP00000336861:p.Gly109Cys		A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS	p.G109C	ENST00000335894.4	37	c.325	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865928	0.51588	.	.	ENSG00000103599	ENST00000512104;ENST00000335894;ENST00000535744	T	0.48522	0.81	4.89	1.86	0.25419	.	0.860622	0.10407	N	0.678378	T	0.36635	0.0974	L	0.44542	1.39	0.22842	N	0.998669	B;B	0.17038	0.02;0.02	B;B	0.17098	0.017;0.017	T	0.37103	-0.9720	10	0.66056	D	0.02	-5.1791	3.6154	0.08075	0.0932:0.167:0.5672:0.1727	.	109;109	Q86VS3;B4E2J4	IQCH_HUMAN;.	C	109	ENSP00000336861:G109C	ENSP00000336861:G109C	G	+	1	0	IQCH	65358842	0.388000	0.25197	0.931000	0.37212	0.964000	0.63967	0.617000	0.24359	0.177000	0.19895	-0.169000	0.13324	GGT	IQCH	-	NULL	ENSG00000103599		0.348	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	-	0	94	0	G	NM_022784		67571788	1	tier1	-	no_errors	ENST00000335894	ensembl	human	known	74_37	missense	5.04	113	6	SNP	0.368	T	T	67571788	G	T	67571788	3	4	97	1	0	0	0	0	1	0	0	0	7838	1232	43	3	339	3	IQCH	15	67571788	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2779458	67571788	34959604	286	27898											
THSD4	79875	genome.wustl.edu	37	chr15	72039269	72039269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaggtgtacgccaaccGcagcctgacggtgcagccct	7	5	12	17	4	0	1	0	1	0	0	0	1	0	1	6	2	5	3	6	2	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:72039269G>T	ENST00000355327.3	+	13	2263	c.2129G>T	c.(2128-2130)cGc>cTc	p.R710L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R350L|THSD4_ENST00000261862.6_Missense_Mutation_p.R710L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	710	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)	p.R710L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACGCCAACCGCAGCCTGACG	0.637																																																	1	Substitution - Missense(1)	endometrium(1)											36	45	42					15																	72039269		2173	4279	6452	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2129G>T	15.37:g.72039269G>T	ENSP00000347484:p.Arg710Leu		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.R710L	ENST00000355327.3	37	c.2129	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918890	0.73098	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.62639	0.01;0.01;0.29	5.08	5.08	0.68730	.	.	.	.	.	T	0.52613	0.1745	N	0.26092	0.79	0.50313	D	0.999869	B;P	0.45715	0.214;0.865	B;B	0.43783	0.093;0.431	T	0.50110	-0.8866	9	0.25106	T	0.35	.	15.9463	0.79796	0.0:0.0:1.0:0.0	.	350;710	B4DR13;Q6ZMP0	.;THSD4_HUMAN	L	710;710;350	ENSP00000347484:R710L;ENSP00000261862:R710L;ENSP00000350413:R350L	ENSP00000261862:R710L	R	+	2	0	THSD4	69826323	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.564000	0.60830	2.347000	0.79759	0.650000	0.86243	CGC	THSD4	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000187720		0.637	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	-	0	33	0	G	NM_024817		72039269	1	tier1	-	no_errors	ENST00000261862	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T	T	72039269	G	T	72039269	3	4	97	1	0	0	0	0	1	0	0	0	15925	1087	38	2	2175	2	THSD4	15	72039269	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4467481	72039269	30492123	287	27899											
TBC1D2B	23102	genome.wustl.edu	37	chr15	78295688	78295688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtcccatattttaaagaGgatgtcactaacgacactat	15	11	7	8	1	1	2	1	0	0	2	2	4	2	3	1	1	1	0	1	1	5	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:78295688G>T	ENST00000300584.3	-	11	2532	c.2533C>A	c.(2533-2535)Ctc>Atc	p.L845I	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L845I|TBC1D2B_ENST00000492078.1_5'Flank	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	845	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ATTTTAAAGAGGATGTCACTA	0.428																																																	0													111	103	105					15																	78295688		2196	4293	6489	SO:0001583	missense	0			AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2533C>A	15.37:g.78295688G>T	ENSP00000300584:p.Leu845Ile		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.L845I	ENST00000300584.3	37	c.2533	CCDS45314.1	15	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620031	0.66787	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.23950	1.88;1.88	5.29	5.29	0.74685	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.39279	0.1072	M	0.63428	1.95	0.58432	D	0.999998	P;D;P	0.53312	0.927;0.959;0.941	P;P;P	0.54346	0.519;0.749;0.726	T	0.19778	-1.0295	10	0.66056	D	0.02	.	11.4034	0.49883	0.0826:0.0:0.9174:0.0	.	845;297;845	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	I	845	ENSP00000387165:L845I;ENSP00000300584:L845I	ENSP00000300584:L845I	L	-	1	0	TBC1D2B	76082743	1.000000	0.71417	0.991000	0.47740	0.654000	0.38779	6.588000	0.74076	2.457000	0.83068	0.563000	0.77884	CTC	TBC1D2B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167202		0.428	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D2B	HGNC	protein_coding	OTTHUMT00000328369.3		0	63	0	G	NM_015079		78295688	-1			no_errors	ENST00000300584	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	78295688	G	T	78295688	3	4	97	1	0	0	0	0	1	0	0	0	15666	1000	35	3	370	3	TBC1D2B	15	78295688	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6256419	78295688	24235704	288	27900											
MORF4L1	10933	genome.wustl.edu	37	chr15	79179642	79179642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggggaagatgagagggGctgccccaggaaagaagaca	15	2	17	7	0	0	5	0	1	0	5	0	8	0	7	2	5	1	1	2	5	3	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr15:79179642G>T	ENST00000331268.5	+	6	595	c.391G>T	c.(391-393)Gct>Tct	p.A131S	MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000559345.1_Missense_Mutation_p.A4S|MORF4L1_ENST00000426013.2_Missense_Mutation_p.A92S|MORF4L1_ENST00000558746.1_Intron|MORF4L1_ENST00000379535.4_Missense_Mutation_p.A117S|MORF4L1_ENST00000558502.1_Missense_Mutation_p.A4S	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	131					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|double-strand break repair via homologous recombination (GO:0000724)|histone deacetylation (GO:0016575)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|Sin3 complex (GO:0016580)	chromatin binding (GO:0003682)|protein N-terminus binding (GO:0047485)			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						GATGAGAGGGGCTGCCCCAGG	0.358																																																	0													85	88	87					15																	79179642		2196	4293	6489	SO:0001583	missense	0			AF100615	CCDS10307.1, CCDS32304.1, CCDS58393.1	15q25.1	2009-07-13			ENSG00000185787	ENSG00000185787			16989	protein-coding gene	gene with protein product	"MORF-related gene on chromosome 15", "Esa1p-associated factor 3 homolog (S. cerevisiae)"	607303				8619474, 9110174	Standard	NM_006791		Approved	MRG15, MORFRG15, HsT17725, Eaf3, MEAF3	uc002bel.4	Q9UBU8	OTTHUMG00000143865	ENST00000331268.5:c.391G>T	15.37:g.79179642G>T	ENSP00000331310:p.Ala131Ser		B4DKN6|B7Z6R1|D3DW88|O95899|Q5QTS1|Q6NVX8|Q86YT7|Q9HBP6|Q9NSW5	Missense_Mutation	SNP	pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15	p.A131S	ENST00000331268.5	37	c.391	CCDS10307.1	15	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366471	0.41902	.	.	ENSG00000185787	ENST00000379535;ENST00000426013;ENST00000331268	T;T;T	0.40225	1.04;1.04;1.57	5.38	5.38	0.77491	.	0.377447	0.26616	N	0.023397	T	0.27063	0.0663	N	0.16656	0.425	0.38517	D	0.948622	B;B;B	0.28439	0.126;0.029;0.212	B;B;B	0.25759	0.03;0.063;0.027	T	0.11941	-1.0567	10	0.07990	T	0.79	.	17.7417	0.88408	0.0:0.0:1.0:0.0	.	117;92;131	B3KTM8;Q9UBU8-2;Q9UBU8	.;.;MO4L1_HUMAN	S	117;92;131	ENSP00000368850:A117S;ENSP00000408880:A92S;ENSP00000331310:A131S	ENSP00000331310:A131S	A	+	1	0	MORF4L1	76966697	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.635000	0.74295	2.528000	0.85240	0.591000	0.81541	GCT	MORF4L1	-	pirsf_EAF3/MRG15	ENSG00000185787		0.358	MORF4L1-001	KNOWN	basic|CCDS	protein_coding	MORF4L1	HGNC	protein_coding	OTTHUMT00000290131.4	-	0	63	0	G	NM_006791		79179642	1	tier1	-	no_errors	ENST00000331268	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T	T	79179642	G	T	79179642	3	4	97	1	0	0	0	0	1	0	0	0	9744	1203	42	3	413	3	MORF4L1	15	79179642	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	883954	79179642	23351750	289	27901											
PIGQ	9091	genome.wustl.edu	37	chr16	632904	632904	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacccactgccctacagcCgcgtggtgcacacctaccgc	9	6	8	18	3	0	0	0	0	0	0	0	0	0	0	5	1	6	1	5	1	4	3	rs147312685	byFrequency	TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:632904C>A	ENST00000026218.5	+	10	1641	c.1553C>A	c.(1552-1554)cCg>cAg	p.P518Q	PIGQ_ENST00000409527.2_Missense_Mutation_p.R539S|PIGQ_ENST00000321878.5_Missense_Mutation_p.R539S	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	518	Leu-rich.				C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCCTACAGCCGCGTGGTGCA	0.662																																																	0													97	106	103					16																	632904		2201	4300	6501	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"Phosphatidylinositol glycan anchor biosynthesis"	14135	protein-coding gene	gene with protein product		605754	"phosphatidylinositol glycan, class Q"			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1553C>A	16.37:g.632904C>A	ENSP00000026218:p.Pro518Gln		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.P518Q	ENST00000026218.5	37	c.1553	CCDS10411.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.264|1.264	-0.615031|-0.615031	0.03663|0.03663	.|.	.|.	ENSG00000007541|ENSG00000007541	ENST00000026218|ENST00000409527;ENST00000321878;ENST00000540241	T|T;T	0.18016|0.40225	2.24|1.04;1.04	5.34|5.34	3.19|3.19	0.36642|0.36642	.|.	0.549745|.	0.13751|.	U|.	0.365249|.	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.08118|0.08118	0|0	0.23602|0.23602	N|N	0.99731|0.99731	P;B|B	0.47841|0.09022	0.901;0.028|0.002	P;B|B	0.46510|0.06405	0.519;0.016|0.002	T|T	0.23868|0.23868	-1.0176|-1.0176	10|9	0.23891|0.09590	T|T	0.37|0.72	-22.8373|-22.8373	7.3361|7.3361	0.26611|0.26611	0.4525:0.4157:0.1318:0.0|0.4525:0.4157:0.1318:0.0	.|.	88;518|539	B3KRR7;Q9BRB3|Q9BRB3-2	.;PIGQ_HUMAN|.	Q|S	518|539;539;97	ENSP00000026218:P518Q|ENSP00000386760:R539S;ENSP00000326674:R539S	ENSP00000026218:P518Q|ENSP00000326674:R539S	P|R	+|+	2|1	0|0	PIGQ|PIGQ	572905|572905	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.640000|0.640000	0.38277|0.38277	0.286000|0.286000	0.18902|0.18902	1.218000|1.218000	0.43458|0.43458	0.462000|0.462000	0.41574|0.41574	CCG|CGC	PIGQ	-	NULL	ENSG00000007541		0.662	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2		0	86	0	C	NM_004204		632904	1			no_errors	ENST00000026218	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.101	A	A	632904	C	A	632904	3	1	97	1	0	0	0	0	1	0	0	0	11935	652	23	2	1653	2	PIGQ	16	632904	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09		632904	89721849	290	27902											
PKD1	5310	genome.wustl.edu	37	chr16	2161499	2161499	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgggggcgccctgctcCacggccaggctcatgtccac	6	5	12	18	3	1	0	1	0	0	0	3	0	3	0	5	4	1	2	5	4	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:2161499C>A	ENST00000262304.4	-	15	3877	c.3669G>T	c.(3667-3669)gtG>gtT	p.V1223V	PKD1_ENST00000423118.1_Silent_p.V1223V|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1223	PKD 7. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCCCTGCTCCACGGCCAGGC	0.706																																																	0													14	13	13					16																	2161499		2153	4201	6354	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"Voltage-gated ion channels / Transient receptor potential cation channels"	9008	protein-coding gene	gene with protein product	"polycystin 1", "transient receptor potential cation channel, subfamily P, member 1"	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.3669G>T	16.37:g.2161499C>A			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.V1223	ENST00000262304.4	37	c.3669	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,tigrfam_Polycystin_cat	ENSG00000008710		0.706	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0	118	0	C			2161499	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	silent	9.80	46	5	SNP	0.712	A	A	2161499	C	A	2161499	2	1	97	1	0	0	0	0	0	0	0	1	12002	581	21	3		3	PKD1	16	2161499	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	1528595	2161499	88193254	291	27903											
MMP25	64386	genome.wustl.edu	37	chr16	3107375	3107375	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggctcctccgccccagccCccggcctcgcccacacacag	5	4	8	24	3	0	0	0	0	0	0	3	0	2	0	8	2	1	1	8	2	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:3107375C>A	ENST00000336577.4	+	6	1140	c.903C>A	c.(901-903)ccC>ccA	p.P301P	RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	315					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CGCCCCAGCCCCCGGCCTCGC	0.652																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0													58	67	64					16																	3107375		2197	4300	6497	SO:0001819	synonymous_variant	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.903C>A	16.37:g.3107375C>A			Q96F04|Q96TE2	Silent	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.P301	ENST00000336577.4	37	c.903	CCDS10492.1	16																																																																																			MMP25	-	pirsf_Pept_M10A_Metazoans	ENSG00000008516		0.652	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	HGNC	protein_coding	OTTHUMT00000437116.1		0	47	0	C	NM_022468		3107375	1			no_errors	ENST00000336577	ensembl	human	known	74_37	silent	10.34	26	3	SNP	0.841	A	A	3107375	C	A	3107375	2	1	97	1	0	0	0	0	0	0	0	1	9700	610	22	3		3	MMP25	16	3107375	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	945876	3107375	87247378	292	27904											
ZNF174	7727	genome.wustl.edu	37	chr16	3458450	3458450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcctgaaccaagaggggCaaatatgagtgaacctcggt	14	7	12	8	1	0	4	0	3	0	1	2	5	1	4	3	3	2	1	3	3	6	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:3458450C>A	ENST00000268655.4	+	3	1340	c.755C>A	c.(754-756)gCa>gAa	p.A252E	ZNF174_ENST00000571936.1_Missense_Mutation_p.A252E	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	252					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCAAGAGGGGCAAATATGAGT	0.507																																																	0													97	87	91					16																	3458450		2197	4300	6497	SO:0001583	missense	0			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.755C>A	16.37:g.3458450C>A	ENSP00000268655:p.Ala252Glu		Q53Y68|Q9BQ34	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A252E	ENST00000268655.4	37	c.755	CCDS10504.1	16	.	.	.	.	.	.	.	.	.	.	C	6.333	0.429615	0.11987	.	.	ENSG00000103343	ENST00000268655	T	0.06528	3.29	4.65	-1.06	0.10002	.	0.767209	0.11512	N	0.556570	T	0.02888	0.0086	N	0.19112	0.55	0.19300	N	0.999979	B	0.06786	0.001	B	0.04013	0.001	T	0.47045	-0.9147	10	0.05959	T	0.93	.	4.2753	0.10806	0.1532:0.4349:0.0:0.4119	.	252	Q15697	ZN174_HUMAN	E	252	ENSP00000268655:A252E	ENSP00000268655:A252E	A	+	2	0	ZNF174	3398451	0.000000	0.05858	0.046000	0.18839	0.891000	0.51852	0.004000	0.13106	-0.126000	0.11682	0.557000	0.71058	GCA	ZNF174	-	NULL	ENSG00000103343		0.507	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1	-	0	82	0	C	NM_003450		3458450	1	tier1	-	no_errors	ENST00000268655	ensembl	human	known	74_37	missense	41.67	35	25	SNP	0.004	A	A	3458450	C	A	3458450	3	1	97	1	0	0	0	0	1	0	0	0	17792	710	25	3	849	3	ZNF174	16	3458450	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	351075	3458450	86896303	293	27905											
PPL	5493	genome.wustl.edu	37	chr16	4933515	4933515	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagaacttcttgccagacTtcctgtcgtgtatcactgag	8	13	10	10	1	2	3	1	1	1	2	4	4	3	3	2	1	2	1	2	1	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:4933515T>A	ENST00000345988.2	-	22	5230	c.5141A>T	c.(5140-5142)aAg>aTg	p.K1714M	PPL_ENST00000590782.2_Missense_Mutation_p.K1712M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1714					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTGCCAGACTTCCTGTCGTG	0.542																																																	0													99	86	90					16																	4933515		2197	4300	6497	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.5141A>T	16.37:g.4933515T>A	ENSP00000340510:p.Lys1714Met		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.K1714M	ENST00000345988.2	37	c.5141	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451915	0.63290	.	.	ENSG00000118898	ENST00000345988	T	0.45668	0.89	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.73217	2.22	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.68503	-0.5391	10	0.87932	D	0	.	15.955	0.79880	0.0:0.0:0.0:1.0	.	1714	O60437	PEPL_HUMAN	M	1714	ENSP00000340510:K1714M	ENSP00000340510:K1714M	K	-	2	0	PPL	4873516	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.279000	0.72620	2.181000	0.69327	0.459000	0.35465	AAG	PPL	-	smart_Plectin_repeat	ENSG00000118898		0.542	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1		0	14	0	T	NM_002705		4933515	-1			no_errors	ENST00000345988	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	A	A	4933515	T	A	4933515	3	1	97	1	0	0	0	0	1	0	0	0	12376	1609	56	5	133	5	PPL	16	4933515	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	1475065	4933515	85421238	294	27906											
TMEM186	25880	genome.wustl.edu	37	chr16	8890320	8890320	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttggtagtttctccttcGagatgggtgaactgctgccc	5	14	12	10	2	1	2	0	1	1	1	3	3	1	2	2	2	3	4	2	2	2	4	rs368713879		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:8890320G>T	ENST00000333050.6	-	2	164	c.131C>A	c.(130-132)tCg>tAg	p.S44*	PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000566983.1_Intron|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000569958.1_5'Flank|PMM2_ENST00000537352.1_5'Flank|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	44						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						TTTCTCCTTCGAGATGGGTGA	0.527																																																	0													121	126	124					16																	8890320		2197	4300	6497	SO:0001587	stop_gained	0			BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 51"	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.131C>A	16.37:g.8890320G>T	ENSP00000331640:p.Ser44*		B2RAY0|Q9Y4T4	Nonsense_Mutation	SNP	NULL	p.S44*	ENST00000333050.6	37	c.131	CCDS10535.1	16	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437777	0.62955	.	.	ENSG00000184857	ENST00000333050	.	.	.	5.31	3.31	0.37934	.	0.908687	0.09090	N	0.849946	.	.	.	.	.	.	0.19300	N	0.99998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5777	8.6057	0.33771	0.1862:0.0:0.8138:0.0	.	.	.	.	X	44	.	ENSP00000331640:S44X	S	-	2	0	TMEM186	8797821	0.001000	0.12720	0.002000	0.10522	0.088000	0.18126	0.699000	0.25586	0.700000	0.31782	0.655000	0.94253	TCG	TMEM186	-	NULL	ENSG00000184857		0.527	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM186	HGNC	protein_coding	OTTHUMT00000251903.1	-	0	35	0	G	NM_015421		8890320	-1	tier1	-	no_errors	ENST00000333050	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	0.003	T	T	8890320	G	T	8890320	4	4	97	1	0	0	0	0	0	1	0	0	16155	1059	37	2	514	2	TMEM186	16	8890320	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3956805	8890320	81464433	295	27907											
MYH11	4629	genome.wustl.edu	37	chr16	15815452	15815452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagctctgtccctctcatCcgcgtatttggaagagatgt	7	13	9	12	2	3	1	2	0	2	1	6	3	5	2	2	1	1	2	2	1	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:15815452C>A	ENST00000300036.5	-	32	4514	c.4405G>T	c.(4405-4407)Gat>Tat	p.D1469Y	NDE1_ENST00000342673.5_Intron|MYH11_ENST00000452625.2_Missense_Mutation_p.D1476Y|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.D1469Y|MYH11_ENST00000396324.3_Missense_Mutation_p.D1476Y	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1469					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCCTCTCATCCGCGTATTTG	0.537			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													100	95	97					16																	15815452		2197	4300	6497	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4405G>T	16.37:g.15815452C>A	ENSP00000300036:p.Asp1469Tyr		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.D1476Y	ENST00000300036.5	37	c.4426	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479331	0.44044	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.82	4.82	0.62117	Myosin tail (1);	0.117769	0.56097	D	0.000028	T	0.82121	0.4968	L	0.38175	1.15	0.58432	D	0.999999	D;D;D;P;D	0.54601	0.967;0.967;0.967;0.941;0.967	P;P;P;P;P	0.62649	0.903;0.905;0.905;0.905;0.905	D	0.84325	0.0518	10	0.66056	D	0.02	.	16.8829	0.86068	0.0:1.0:0.0:0.0	.	1476;1469;1476;1469;1476	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Y	1469;1469;1476;1476;1476	ENSP00000300036:D1469Y;ENSP00000345136:D1469Y;ENSP00000379616:D1476Y;ENSP00000407821:D1476Y	ENSP00000300036:D1469Y	D	-	1	0	MYH11	15722953	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	6.006000	0.70724	2.218000	0.71995	0.462000	0.41574	GAT	MYH11	-	pfam_Myosin_tail	ENSG00000133392		0.537	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0	20	0	C	NM_001040113		15815452	-1			no_errors	ENST00000396324	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	A	A	15815452	C	A	15815452	3	1	97	1	0	0	0	0	1	0	0	0	10069	855	30	3	1588	3	MYH11	16	15815452	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	6925132	15815452	74539301	296	27908											
HS3ST4	9951	genome.wustl.edu	37	chr16	25703882	25703882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtctgtcacctacctGtgctacagcctcctgggcgg	4	11	10	16	1	2	0	1	0	1	0	4	0	4	0	5	2	4	1	5	2	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:25703882G>A	ENST00000331351.5	+	1	536	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	48					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCACCTACCTGTGCTACAGCC	0.736																																																	0													7	8	8					16																	25703882		1267	2578	3845	SO:0001819	synonymous_variant	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"Sulfotransferases, membrane-bound"	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.144G>A	16.37:g.25703882G>A			Q5QI42|Q8NDC2	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.L48	ENST00000331351.5	37	c.144	CCDS53995.1	16																																																																																			HS3ST4	-	NULL	ENSG00000182601		0.736	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	-	0	20	0	G	NM_006040		25703882	1	tier1	-	no_errors	ENST00000331351	ensembl	human	known	74_37	silent	19.28	67	16	SNP	1.000	A	A	25703882	G	A	25703882	2	1	97	1	0	0	0	0	0	0	0	1	7394	1364	48	3		3	HS3ST4	16	25703882	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9888430	25703882	64650871	297	27909											
STX1B	112755	genome.wustl.edu	37	chr16	31012923	31012923	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcatcactgtctttcGcctggggacaaggaaggctg	8	11	11	11	1	4	0	3	0	1	0	5	2	4	2	1	4	0	1	1	4	2	2	rs368619665		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:31012923G>A	ENST00000215095.5	-	2	263	c.32C>T	c.(31-33)gCg>gTg	p.A11V	STX1B_ENST00000565419.1_Splice_Site_p.A11V	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	11				ELRSAKD -> VLRTRRN (in Ref. 2; BAA07152). {ECO:0000305}.	intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						ACTGTCTTTCGCCTGGGGACA	0.597																																																	0								G	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	70	59	63		32	4.8	1	16		63	0,8600		0,0,4300	no	missense-near-splice	STX1B	NM_052874.3	64	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	benign	11/289	31012923	1,12993	2197	4300	6497	SO:0001630	splice_region_variant	0			AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"syntaxin 1B1", "syntaxin 1B2"	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.31-1C>T	16.37:g.31012923G>A			Q15531|Q2VPS2	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A11V	ENST00000215095.5	37	c.32	CCDS10699.1	16	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286160	0.59867	2.28E-4	0.0	ENSG00000099365	ENST00000215095	T	0.37584	1.19	4.84	4.84	0.62591	.	0.355751	0.23452	N	0.048021	T	0.32734	0.0839	L	0.60067	1.865	0.80722	D	1	P;P	0.52692	0.955;0.509	B;B	0.36378	0.223;0.028	T	0.25363	-1.0134	10	0.30078	T	0.28	.	16.714	0.85393	0.0:0.0:1.0:0.0	.	11;11	Q2VPS2;P61266	.;STX1B_HUMAN	V	11	ENSP00000215095:A11V	ENSP00000215095:A11V	A	-	2	0	STX1B	30920424	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.173000	0.65010	2.256000	0.74724	0.555000	0.69702	GCG	STX1B	-	NULL	ENSG00000099365		0.597	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1B	HGNC	protein_coding	OTTHUMT00000255521.2	-	0	38	0	G		Missense_Mutation	31012923	-1	tier1	-	no_errors	ENST00000215095	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	A	A	31012923	G	A	31012923	5	1	97	1	0	0	0	0	0	0	1	0	15391	1101	38	1	870	1	STX1B	16	31012923	Splice_Site	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5309041	31012923	59341830	298	27910											
LONP2	83752	genome.wustl.edu	37	chr16	48368268	48368268	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgatgtatgaaatggAggtgattcattctttttatt	9	16	9	7	1	2	2	1	2	1	0	2	4	2	3	2	2	0	1	2	2	3	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:48368268A>T	ENST00000285737.4	+	12	2030	c.1937A>T	c.(1936-1938)gAg>gTg	p.E646V	LONP2_ENST00000535754.1_Splice_Site_p.E602V	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TATGAAATGGAGGTGATTCAT	0.478																																																	0													132	127	129					16																	48368268		2200	4300	6500	SO:0001630	splice_region_variant	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"ATPases / AAA-type"	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1938+1A>T	16.37:g.48368268A>T				Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.E646V	ENST00000285737.4	37	c.1937	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591345	0.86851	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T	0.36157	1.27;1.27	6.06	6.06	0.98353	Peptidase S16, Lon C-terminal (1);	0.048148	0.85682	D	0.000000	T	0.67515	0.2901	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74191	-0.3745	10	0.87932	D	0	-20.0133	16.6093	0.84858	1.0:0.0:0.0:0.0	.	602;646	B7ZKL7;Q86WA8	.;LONP2_HUMAN	V	646;375;602;602	ENSP00000285737:E646V;ENSP00000445426:E602V	ENSP00000285737:E646V	E	+	2	0	LONP2	46925769	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.174000	0.77620	2.324000	0.78689	0.533000	0.62120	GAG	LONP2	-	pfam_Pept_S16_C,tigrfam_Lon_bac/euk-typ	ENSG00000102910		0.478	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	-	0	30	0	A	NM_031490	Missense_Mutation	48368268	1	tier1	-	no_errors	ENST00000285737	ensembl	human	known	74_37	missense	58.82	7	10	SNP	1.000	T	T	48368268	A	T	48368268	5	4	97	1	0	0	0	0	0	0	1	0	8928	318	11	5	1983	5	LONP2	16	48368268	Splice_Site	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	17355345	48368268	41986485	299	27911											
FTO	79068	genome.wustl.edu	37	chr16	53860211	53860211	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggttcatcctacaacGgacaagatgaagtggacatt	13	9	12	7	1	1	2	1	1	0	1	2	5	2	5	1	4	2	1	1	4	4	3	rs577569584		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:53860211G>T	ENST00000471389.1	+	3	781	c.559G>T	c.(559-561)Gga>Tga	p.G187*	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	187	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATCCTACAACGGACAAGATGA	0.448																																																	0													156	135	142					16																	53860211		2198	4300	6498	SO:0001587	stop_gained	0			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.559G>T	16.37:g.53860211G>T	ENSP00000418823:p.Gly187*		A2RUH1|B2RNS0|Q0P676|Q7Z785	Nonsense_Mutation	SNP	NULL	p.G187*	ENST00000471389.1	37	c.559	CCDS32448.1	16	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337883	0.60963	.	.	ENSG00000140718	ENST00000471389	.	.	.	4.33	0.641	0.17759	.	0.703054	0.14383	N	0.323031	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-5.9847	2.2982	0.04155	0.1967:0.3203:0.3638:0.1192	.	.	.	.	X	187	.	ENSP00000418823:G187X	G	+	1	0	FTO	52417712	0.036000	0.19791	0.006000	0.13384	0.579000	0.36224	0.526000	0.22971	0.165000	0.19558	0.563000	0.77884	GGA	FTO	-	NULL	ENSG00000140718		0.448	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTO	HGNC	protein_coding	OTTHUMT00000352196.1		0	50	0	G	NM_001080432		53860211	1			no_errors	ENST00000471389	ensembl	human	known	74_37	nonsense	7.41	25	2	SNP	0.000	T	T	53860211	G	T	53860211	4	4	97	1	0	0	0	0	0	1	0	0	6110	1117	39	2	569	2	FTO	16	53860211	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5491943	53860211	36494542	300	27912											
NLRC5	84166	genome.wustl.edu	37	chr16	57054745	57054745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctccccaacacggacCtggattccaggaacgagacc	10	7	8	16	2	1	1	0	0	1	1	4	5	4	4	6	3	2	0	6	3	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:57054745C>T	ENST00000262510.6	+	3	346	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	NLRC5_ENST00000436936.1_Silent_p.L41L|NLRC5_ENST00000539144.1_Silent_p.L41L|NLRC5_ENST00000308149.7_Silent_p.L41L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	41					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAACACGGACCTGGATTCCAG	0.537																																																	0													106	92	97					16																	57054745		2198	4300	6498	SO:0001819	synonymous_variant	0			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"Nucleotide-binding domain and leucine rich repeat containing"	29933	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5", "NOD-like receptor C5"	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.121C>T	16.37:g.57054745C>T			B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.L41	ENST00000262510.6	37	c.121	CCDS10773.1	16																																																																																			NLRC5	-	NULL	ENSG00000140853		0.537	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	-	0	56	0	C	NM_032206		57054745	1	tier1	-	no_errors	ENST00000262510	ensembl	human	known	74_37	silent	87.18	5	34	SNP	0.990	T	T	57054745	C	T	57054745	2	4	97	1	0	0	0	0	0	0	0	1	10509	680	24	3		3	NLRC5	16	57054745	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	3194534	57054745	33300008	301	27913											
MMP15	4324	genome.wustl.edu	37	chr16	58075662	58075662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagcggcccccaaagccggGccccccagtccagccccgag	8	1	12	20	3	0	1	0	0	0	1	1	2	1	1	9	2	3	0	9	2	1	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:58075662G>T	ENST00000219271.3	+	6	1837	c.1052G>T	c.(1051-1053)gGc>gTc	p.G351V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	351					cellular protein modification process (GO:0006464)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)|response to estradiol (GO:0032355)	extracellular matrix (GO:0031012)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18					Marimastat(DB00786)	CCAAAGCCGGGCCCCCCAGTC	0.726																																																	0													18	22	20					16																	58075662		2185	4295	6480	SO:0001583	missense	0			Z48482	CCDS10792.1	16q13	2008-05-14	2005-08-08		ENSG00000102996	ENSG00000102996			7161	protein-coding gene	gene with protein product		602261	"matrix metalloproteinase 15 (membrane-inserted)"			9070935, 9119382	Standard	NM_002428		Approved	MT2-MMP, MTMMP2, SMCP-2	uc002ena.3	P51511	OTTHUMG00000133466	ENST00000219271.3:c.1052G>T	16.37:g.58075662G>T	ENSP00000219271:p.Gly351Val		A0A2U6|Q14111	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.G351V	ENST00000219271.3	37	c.1052	CCDS10792.1	16	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323880	0.60634	.	.	ENSG00000102996	ENST00000219271	T	0.16073	2.37	4.64	3.66	0.41972	.	0.100524	0.41938	D	0.000792	T	0.16041	0.0386	L	0.44542	1.39	0.54753	D	0.999986	B	0.30406	0.278	B	0.31337	0.128	T	0.03863	-1.0997	10	0.36615	T	0.2	.	12.5093	0.55999	0.0:0.3222:0.6778:0.0	.	351	P51511	MMP15_HUMAN	V	351	ENSP00000219271:G351V	ENSP00000219271:G351V	G	+	2	0	MMP15	56633163	0.988000	0.35896	0.977000	0.42913	0.817000	0.46193	2.018000	0.40991	0.936000	0.37367	0.491000	0.48974	GGC	MMP15	-	pirsf_Pept_M10A_Metazoans	ENSG00000102996		0.726	MMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP15	HGNC	protein_coding	OTTHUMT00000257342.1		0	60	0	G	NM_002428		58075662	1			no_errors	ENST00000219271	ensembl	human	known	74_37	missense	5.77	48	3	SNP	0.983	T	T	58075662	G	T	58075662	3	4	97	1	0	0	0	0	1	0	0	0	9692	1203	42	3	1074	3	MMP15	16	58075662	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1020917	58075662	32279091	302	27914											
HAS3	3038	genome.wustl.edu	37	chr16	69143446	69143446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcggcctgtacggcGccatcctgggcctgcacctg	3	10	12	16	3	0	0	0	0	0	0	3	0	2	0	6	3	2	2	6	3	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:69143446G>T	ENST00000306560.1	+	2	304	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	HAS3_ENST00000569188.1_Missense_Mutation_p.A50S|HAS3_ENST00000219322.3_Missense_Mutation_p.A50S	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	50					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CCTGTACGGCGCCATCCTGGG	0.642																																																	0													102	85	91					16																	69143446		2198	4300	6498	SO:0001583	missense	0			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.148G>T	16.37:g.69143446G>T	ENSP00000304440:p.Ala50Ser		A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.A50S	ENST00000306560.1	37	c.148	CCDS10871.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.196919	0.94960	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	T;T	0.49720	0.77;0.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.68081	0.2962	M	0.61703	1.905	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.91635	0.357;0.999	T	0.67787	-0.5580	10	0.54805	T	0.06	16.8517	19.1973	0.93695	0.0:0.0:1.0:0.0	.	50;50	O00219;O00219-2	HAS3_HUMAN;.	S	50	ENSP00000219322:A50S;ENSP00000304440:A50S	ENSP00000219322:A50S	A	+	1	0	HAS3	67700947	1.000000	0.71417	0.968000	0.41197	0.978000	0.69477	9.721000	0.98766	2.653000	0.90120	0.561000	0.74099	GCC	HAS3	-	NULL	ENSG00000103044		0.642	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS3	HGNC	protein_coding	OTTHUMT00000268898.2		0	19	0	G	NM_138612		69143446	1			no_errors	ENST00000306560	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	69143446	G	T	69143446	3	4	97	1	0	0	0	0	1	0	0	0	6990	1087	38	2	150	2	HAS3	16	69143446	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	11067784	69143446	21211307	303	27915											
SF3B3	23450	genome.wustl.edu	37	chr16	70590174	70590174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaccccctggagagcagcgGtctcgcttcctggctgtggg	4	9	15	13	2	1	1	0	0	1	1	3	2	2	1	3	4	3	4	3	4	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:70590174G>T	ENST00000302516.5	+	14	2014	c.1803G>T	c.(1801-1803)cgG>cgT	p.R601R		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	601					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAGAGCAGCGGTCTCGCTTCC	0.537																																																	0													240	195	210					16																	70590174		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"splicing factor 3b, subunit 3, 130kD"			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1803G>T	16.37:g.70590174G>T			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.R601	ENST00000302516.5	37	c.1803	CCDS10894.1	16																																																																																			SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	-	0	46	0	G	NM_012426		70590174	1	tier1	-	no_errors	ENST00000302516	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.964	T	T	70590174	G	T	70590174	2	4	97	1	0	0	0	0	0	0	0	1	14197	1248	44	3		3	SF3B3	16	70590174	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1446728	70590174	19764579	304	27916											
CTU2	348180	genome.wustl.edu	37	chr16	88778735	88778735	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaagaccctggccgaaGtgaagcccattctgcaagca	13	6	10	12	1	2	2	1	1	1	1	2	4	2	2	3	1	3	2	3	1	4	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr16:88778735G>T	ENST00000453996.2	+	6	465	c.397G>T	c.(397-399)Gtg>Ttg	p.V133L	CTU2_ENST00000567949.1_Missense_Mutation_p.V204L|CTU2_ENST00000378384.3_Missense_Mutation_p.V46L|CTU2_ENST00000312060.5_Missense_Mutation_p.V133L	NM_001012759.1	NP_001012777.1			cytosolic thiouridylase subunit 2 homolog (S. pombe)											NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGGCCGAAGTGAAGCCCAT	0.607																																																	0													51	52	51					16																	88778735		2197	4296	6493	SO:0001583	missense	0			BC021056	CCDS32506.1, CCDS45545.1	16q24.3	2013-10-11	2009-08-19	2009-08-19		ENSG00000174177			28005	protein-coding gene	gene with protein product			"chromosome 16 open reading frame 84"	C16orf84		19017811	Standard	NM_001012759		Approved	NCS2	uc002flm.3	Q2VPK5		ENST00000453996.2:c.397G>T	16.37:g.88778735G>T	ENSP00000388320:p.Val133Leu			Missense_Mutation	SNP	pfam_Thiouridylase_cyt_su2	p.V204L	ENST00000453996.2	37	c.610	CCDS45545.1	16	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347489	0.24426	.	.	ENSG00000174177	ENST00000378384;ENST00000312060;ENST00000453996	T;T;T	0.19105	2.17;2.17;2.17	4.21	-0.168	0.13343	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.528555	0.18796	N	0.130934	T	0.12944	0.0314	L	0.37630	1.12	0.21105	N	0.999787	B;B;B	0.20780	0.048;0.023;0.013	B;B;B	0.21360	0.034;0.007;0.002	T	0.36237	-0.9756	10	0.12430	T	0.62	.	8.5465	0.33424	0.3497:0.0:0.6503:0.0	.	46;133;133	Q2VPK5-3;Q2VPK5-5;Q2VPK5	.;.;CTU2_HUMAN	L	46;133;133	ENSP00000367635:V46L;ENSP00000308617:V133L;ENSP00000388320:V133L	ENSP00000308617:V133L	V	+	1	0	CTU2	87306236	0.000000	0.05858	0.009000	0.14445	0.068000	0.16541	0.201000	0.17276	0.050000	0.15949	0.305000	0.20034	GTG	CTU2	-	NULL	ENSG00000174177		0.607	CTU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTU2	HGNC	protein_coding	OTTHUMT00000423025.1	-	0	72	0	G	NM_001012762		88778735	1	tier1	-	no_errors	ENST00000567949	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.378	T	T	88778735	G	T	88778735	3	4	97	1	0	0	0	0	1	0	0	0	4057	1029	36	3	419	3	CTU2	16	88778735	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	18188561	88778735	1576018	305	27917											
RAP1GAP2	23108	genome.wustl.edu	37	chr17	2883622	2883622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagcggatccccttggctgGactgagcaagcttcccagtg	7	9	13	12	1	0	2	0	2	0	0	2	4	2	4	3	3	3	3	3	3	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:2883622G>T	ENST00000254695.8	+	9	728	c.638G>T	c.(637-639)gGa>gTa	p.G213V	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G213V|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G198V|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G194V	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	213					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCTTGGCTGGACTGAGCAAG	0.557																																																	0													93	92	92					17																	2883622		2001	4179	6180	SO:0001583	missense	0			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"GTPase activating RANGAP domain-like 4", "GTPase activating Rap/RanGAP domain-like 4"	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.638G>T	17.37:g.2883622G>T	ENSP00000254695:p.Gly213Val		B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.G213V	ENST00000254695.8	37	c.638	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635769	0.67130	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16	4.99	4.99	0.66335	.	0.248908	0.39475	N	0.001355	D	0.95316	0.8480	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.91	D	0.93743	0.7052	10	0.25751	T	0.34	-14.9264	13.861	0.63559	0.0:0.0:1.0:0.0	.	198;213	Q684P5-2;Q684P5	.;RPGP2_HUMAN	V	213;198;194;213	ENSP00000254695:G213V;ENSP00000389824:G198V;ENSP00000439688:G194V;ENSP00000444890:G213V	ENSP00000254695:G213V	G	+	2	0	RAP1GAP2	2830372	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.784000	0.68990	2.320000	0.78422	0.555000	0.69702	GGA	RAP1GAP2	-	NULL	ENSG00000132359		0.557	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	-	0	41	0	G			2883622	1	tier1	-	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T	T	2883622	G	T	2883622	3	4	97	1	0	0	0	0	1	0	0	0	13083	1174	41	3	672	3	RAP1GAP2	17	2883622	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		2883622	78311588	306	27918											
TRPV1	7442	genome.wustl.edu	37	chr17	3494370	3494370	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccgtcgtgcaggttGagcatggctttcagcagaca	7	12	12	10	2	2	2	1	1	1	1	4	2	3	2	1	2	3	5	1	2	0	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:3494370G>T	ENST00000571088.1	-	4	705	c.492C>A	c.(490-492)ctC>ctA	p.L164L	TRPV1_ENST00000425167.2_Silent_p.L164L|TRPV1_ENST00000310522.5_Silent_p.L164L|SHPK_ENST00000572705.1_Silent_p.L164L|TRPV1_ENST00000576351.1_Silent_p.L164L|TRPV1_ENST00000399756.4_Silent_p.L164L|TRPV1_ENST00000399759.3_Silent_p.L164L|TRPV1_ENST00000174621.6_Silent_p.L162L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	164					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CGTGCAGGTTGAGCATGGCTT	0.627																																					Melanoma(38;962 1762 15789)												0													81	84	83					17																	3494370		2126	4229	6355	SO:0001819	synonymous_variant	0			AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	12716	protein-coding gene	gene with protein product		602076	"vanilloid receptor subtype 1"	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.492C>A	17.37:g.3494370G>T			A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.L164	ENST00000571088.1	37	c.492	CCDS45576.1	17																																																																																			TRPV1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000196689		0.627	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV1	HGNC	protein_coding	OTTHUMT00000438254.1	-	0	24	0	G	NM_018727		3494370	-1	tier1	-	no_errors	ENST00000399756	ensembl	human	known	74_37	silent	12.90	27	4	SNP	1.000	T	T	3494370	G	T	3494370	2	4	97	1	0	0	0	0	0	0	0	1	16643	1277	45	3		3	TRPV1	17	3494370	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	610748	3494370	77700840	307	27919											
SPNS3	201305	genome.wustl.edu	37	chr17	4356362	4356362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcattggggtcatcttGggggcagaagctgcgaggag	7	8	19	7	2	3	1	2	0	1	1	3	3	3	2	0	6	2	2	0	6	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:4356362G>T	ENST00000355530.2	+	8	1255	c.975G>T	c.(973-975)ttG>ttT	p.L325F	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.L198F	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	325					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGGTCATCTTGGGGGCAGAAG	0.587																																																	0													101	95	97					17																	4356362		2203	4300	6503	SO:0001583	missense	0				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.975G>T	17.37:g.4356362G>T	ENSP00000347721:p.Leu325Phe		Q8IZ31	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L325F	ENST00000355530.2	37	c.975	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004617	0.35320	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59772	0.24;0.24	4.68	3.69	0.42338	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.991853	0.08183	N	0.985172	T	0.67277	0.2876	M	0.64404	1.975	0.40370	D	0.979331	P;B	0.48016	0.904;0.106	P;B	0.55999	0.789;0.213	T	0.66752	-0.5844	10	0.72032	D	0.01	-3.2251	7.2671	0.26235	0.0985:0.1758:0.7257:0.0	.	198;325	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	F	325;198	ENSP00000347721:L325F;ENSP00000333207:L198F	ENSP00000333207:L198F	L	+	3	2	SPNS3	4303111	0.798000	0.28890	0.996000	0.52242	0.653000	0.38743	0.128000	0.15810	2.351000	0.79841	0.442000	0.29010	TTG	SPNS3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000182557		0.587	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	HGNC	protein_coding	OTTHUMT00000438793.1	-	0	38	0	G	NM_182538		4356362	1	tier1	-	no_errors	ENST00000355530	ensembl	human	known	74_37	missense	6.67	55	4	SNP	0.965	T	T	4356362	G	T	4356362	3	4	97	1	0	0	0	0	1	0	0	0	15123	1339	47	3	1005	3	SPNS3	17	4356362	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	861992	4356362	76838848	308	27920											
PLD2	5338	genome.wustl.edu	37	chr17	4720301	4720301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcgtccatggcctacCggcccgggaccttgcccggc	3	7	15	16	4	0	0	0	0	0	0	2	1	1	1	6	6	2	0	6	6	1	2	rs372741803		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:4720301C>A	ENST00000263088.6	+	16	1783	c.1652C>A	c.(1651-1653)cCg>cAg	p.P551Q	PLD2_ENST00000572940.1_Missense_Mutation_p.P551Q	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	551	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CATGGCCTACCGGCCCGGGAC	0.637																																																	0													63	62	63					17																	4720301		2203	4300	6503	SO:0001583	missense	0			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"choline phosphatase 2"	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1652C>A	17.37:g.4720301C>A	ENSP00000263088:p.Pro551Gln		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.P551Q	ENST00000263088.6	37	c.1652	CCDS11057.1	17	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822694	0.71028	.	.	ENSG00000129219	ENST00000263088	T	0.21932	1.98	5.24	5.24	0.73138	.	0.170558	0.50627	D	0.000120	T	0.37571	0.1008	M	0.82823	2.61	0.39836	D	0.973044	B;P;B	0.40083	0.393;0.702;0.448	B;P;B	0.44597	0.066;0.454;0.18	T	0.43065	-0.9414	10	0.62326	D	0.03	-5.6358	16.2922	0.82757	0.0:1.0:0.0:0.0	.	408;551;551	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	Q	551	ENSP00000263088:P551Q	ENSP00000263088:P551Q	P	+	2	0	PLD2	4667267	0.998000	0.40836	0.017000	0.16124	0.577000	0.36160	7.423000	0.80229	2.444000	0.82710	0.561000	0.74099	CCG	PLD2	-	pirsf_PLipase_D_euk	ENSG00000129219		0.637	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD2	HGNC	protein_coding	OTTHUMT00000207561.3	-	0	60	0	C	NM_002663		4720301	1	tier1	-	no_errors	ENST00000263088	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.730	A	A	4720301	C	A	4720301	3	1	97	1	0	0	0	0	1	0	0	0	12085	652	23	2	1710	2	PLD2	17	4720301	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	363939	4720301	76474909	309	27921											
CHRNB1	1140	genome.wustl.edu	37	chr17	7350939	7350939	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacgggcaagggcatcagGaaatccacattcatgaaggg	13	6	13	9	1	2	2	2	2	0	0	3	3	3	3	1	4	0	2	1	4	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:7350939G>T	ENST00000306071.2	+	6	647	c.580G>T	c.(580-582)Gaa>Taa	p.E194*	RP11-104H15.10_ENST00000575331.1_RNA|CHRNB1_ENST00000576360.1_Nonsense_Mutation_p.E122*|CHRNB1_ENST00000536404.2_Nonsense_Mutation_p.E122*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	194					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.E194K(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	AGGGCATCAGGAAATCCACAT	0.507																																																	1	Substitution - Missense(1)	lung(1)											132	114	120					17																	7350939		2203	4300	6503	SO:0001587	stop_gained	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1961	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 1 (muscle)"	100710	"cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.580G>T	17.37:g.7350939G>T	ENSP00000304290:p.Glu194*		B7Z5H1|Q8IZ46|Q96FB8	Nonsense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E194*	ENST00000306071.2	37	c.580	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457840	0.84317	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	13.7047	0.62631	0.0:0.0:1.0:0.0	.	.	.	.	X	194;122	.	ENSP00000304290:E194X	E	+	1	0	CHRNB1	7291663	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	6.485000	0.73625	2.299000	0.77371	0.561000	0.74099	GAA	CHRNB1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000170175		0.507	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3		0	28	0	G			7350939	1			no_errors	ENST00000306071	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T	T	7350939	G	T	7350939	4	4	97	1	0	0	0	0	0	1	0	0	3397	1175	41	3	602	3	CHRNB1	17	7350939	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2630638	7350939	73844271	310	27922											
TP53	7157	genome.wustl.edu	37	chr17	7578502	7578502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcaacccacagctgcAcagggcaggtcttggccagt	10	7	12	12	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:7578502A>G	ENST00000269305.4	-	5	617	c.428T>C	c.(427-429)gTg>gCg	p.V143A	TP53_ENST00000413465.2_Missense_Mutation_p.V143A|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V143A|TP53_ENST00000455263.2_Missense_Mutation_p.V143A|TP53_ENST00000420246.2_Missense_Mutation_p.V143A|TP53_ENST00000445888.2_Missense_Mutation_p.V143A	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCACAGCTGCACAGGGCAGGT	0.587		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	42	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(2)	large_intestine(10)|stomach(7)|breast(6)|bone(4)|lung(3)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|oesophagus(2)|vulva(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)											57	56	56					17																	7578502		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.428T>C	17.37:g.7578502A>G	ENSP00000269305:p.Val143Ala		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V143A	ENST00000269305.4	37	c.428	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356636	0.41801	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99830	-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01;-7.01	5.48	1.94	0.25998	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.343688	0.28219	N	0.016151	D	0.99697	0.9885	M	0.87381	2.88	0.43191	D	0.995023	D;D;D;D;D;D;D	0.89917	0.999;0.996;0.996;0.998;0.996;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.989;0.993;0.977;0.987;0.998;0.998;0.99	D	0.99035	1.0822	10	0.87932	D	0	-32.0412	3.2523	0.06819	0.6411:0.1439:0.0771:0.1378	.	104;143;143;50;143;143;143	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	A	143;143;143;143;143;143;132;50;11;50;11;143	ENSP00000410739:V143A;ENSP00000352610:V143A;ENSP00000269305:V143A;ENSP00000398846:V143A;ENSP00000391127:V143A;ENSP00000391478:V143A;ENSP00000425104:V11A;ENSP00000423862:V50A;ENSP00000424104:V143A	ENSP00000269305:V143A	V	-	2	0	TP53	7519227	1.000000	0.71417	0.664000	0.29753	0.012000	0.07955	9.264000	0.95635	0.097000	0.17492	-0.336000	0.08194	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	43	0	A	NM_000546		7578502	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.902	G	G	7578502	A	G	7578502	3	3	97	1	0	0	0	0	1	0	0	0	16429	159	6	4	870	4	TP53	17	7578502	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	227563	7578502	73616708	311	27923											
DNAH2	146754	genome.wustl.edu	37	chr17	7643738	7643738	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcctctccaccggtgcagGttccgtgccggaatcaagga	8	8	12	13	3	2	0	1	0	1	0	4	2	3	2	5	4	3	2	5	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:7643738G>T	ENST00000572933.1	+	10	2837	c.1377G>T	c.(1375-1377)aaG>aaT	p.K459N	DNAH2_ENST00000389173.2_Splice_Site_p.K459N|DNAH2_ENST00000082259.3_Splice_Site_p.K541N|DNAH2_ENST00000570791.1_Splice_Site_p.K541N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	459	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K459N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCGGTGCAGGTTCCGTGCCG	0.622																																																	1	Substitution - Missense(1)	lung(1)											133	115	121					17																	7643738		2203	4300	6503	SO:0001630	splice_region_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1377-1G>T	17.37:g.7643738G>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K459N	ENST00000572933.1	37	c.1377	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008882	0.54361	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.56103	0.48;0.48	4.18	-6.13	0.02118	Dynein heavy chain, domain-1 (1);	0.368082	0.25247	N	0.032056	T	0.34629	0.0904	L	0.52573	1.65	0.80722	D	1	B;P	0.43412	0.154;0.806	B;B	0.41271	0.248;0.352	T	0.31779	-0.9931	9	.	.	.	.	3.5521	0.07850	0.52:0.1062:0.2668:0.107	.	459;541	Q9P225;Q9P225-3	DYH2_HUMAN;.	N	459;459;541	ENSP00000373825:K459N;ENSP00000082259:K541N	.	K	+	3	2	DNAH2	7584463	0.956000	0.32656	0.620000	0.29132	0.716000	0.41182	-0.022000	0.12480	-1.107000	0.03004	-0.396000	0.06452	AAG	DNAH2	-	pfam_Dynein_heavy_dom-1	ENSG00000183914		0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1		0	28	0	G	NM_020877	Missense_Mutation	7643738	1			no_errors	ENST00000389173	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.949	T	T	7643738	G	T	7643738	5	4	97	1	0	0	0	0	0	0	1	0	4616	1275	44	3	1411	3	DNAH2	17	7643738	Splice_Site	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	65236	7643738	73551472	312	27924											
PFAS	5198	genome.wustl.edu	37	chr17	8167164	8167164	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaatgctcttctgctGaggtcccccaaccgggactt	9	10	9	13	1	3	1	1	1	2	0	4	3	4	2	3	2	3	2	3	2	3	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:8167164G>T	ENST00000314666.6	+	15	1834	c.1701G>T	c.(1699-1701)ctG>ctT	p.L567L	PFAS_ENST00000545834.1_Silent_p.L143L|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	567					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.L567L(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CTCTTCTGCTGAGGTCCCCCA	0.602																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											75	76	76					17																	8167164		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"FGAR amidotransferase"	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1701G>T	17.37:g.8167164G>T			A6H8V8	Silent	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	p.L567	ENST00000314666.6	37	c.1701	CCDS11136.1	17																																																																																			PFAS	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.602	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2		0	39	0	G			8167164	1			no_errors	ENST00000314666	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.971	T	T	8167164	G	T	8167164	2	4	97	1	0	0	0	0	0	0	0	1	11793	1277	45	3		3	PFAS	17	8167164	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	523426	8167164	73028046	313	27925											
TOM1L2	146691	genome.wustl.edu	37	chr17	17810778	17810778	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccttcctccgtctcattGatgatgtcacagatctccat	8	14	5	14	1	3	3	2	2	2	1	7	3	5	3	4	0	1	0	4	0	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:17810778G>T	ENST00000379504.3	-	2	203	c.120C>A	c.(118-120)atC>atA	p.I40I	TOM1L2_ENST00000540946.1_Silent_p.I40I|TOM1L2_ENST00000581396.1_Silent_p.I40I|TOM1L2_ENST00000542206.1_Silent_p.I40I|TOM1L2_ENST00000318094.10_Silent_p.I40I|TOM1L2_ENST00000395739.4_Silent_p.I40I|TOM1L2_ENST00000535933.1_Silent_p.I40I	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	40	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CCGTCTCATTGATGATGTCAC	0.502																																					Melanoma(192;2505 2909 14455 25269)												0													125	101	109					17																	17810778		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"target of myb1 (chicken) homolog-like 1"			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.120C>A	17.37:g.17810778G>T			B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.I40	ENST00000379504.3	37	c.120	CCDS42270.1	17																																																																																			TOM1L2	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS	ENSG00000175662		0.502	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOM1L2	HGNC	protein_coding	OTTHUMT00000131928.1	-	0	45	0	G			17810778	-1	tier1	-	no_errors	ENST00000379504	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	17810778	G	T	17810778	2	4	97	1	0	0	0	0	0	0	0	1	16400	1280	45	3		3	TOM1L2	17	17810778	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9643614	17810778	63384432	314	27926											
THRA	7067	genome.wustl.edu	37	chr17	38245685	38245685	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccccccactcttcctcgaGgtctttgaggatcaggaagt	7	12	9	13	1	3	1	1	1	2	0	6	4	5	3	4	3	0	0	4	3	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:38245685G>T	ENST00000264637.4	+	9	1690				THRA_ENST00000394121.4_Intron|THRA_ENST00000584985.1_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.E403D|THRA_ENST00000450525.2_Missense_Mutation_p.E403D	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha						cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCTTCCTCGAGGTCTTTGAGG	0.637																																																	0													57	56	56					17																	38245685		2203	4300	6503	SO:0001627	intron_variant	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1110+99G>T	17.37:g.38245685G>T			A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.E403D	ENST00000264637.4	37	c.1209	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	g	17.03	3.284907	0.59867	.	.	ENSG00000126351	ENST00000450525;ENST00000546243	D;D	0.96168	-3.93;-3.93	4.65	4.65	0.58169	.	.	.	.	.	D	0.95890	0.8662	M	0.76170	2.325	0.35384	D	0.790202	P	0.36495	0.556	P	0.44623	0.455	D	0.98676	1.0690	8	.	.	.	.	16.4888	0.84193	0.0:0.0:1.0:0.0	.	403	Q6FH41	.	D	403	ENSP00000395641:E403D;ENSP00000443972:E403D	.	E	+	3	2	THRA	35499211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.683000	0.37638	2.405000	0.81733	0.424000	0.28305	GAG	THRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt	ENSG00000126351		0.637	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2		0	47	0	G			38245685	1			no_errors	ENST00000450525	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	38245685	G	T	38245685	1	4	97	0	1	0	0	0	0	0	0	0	15920	991	35	3		3	THRA	17	38245685	Intron	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	20434907	38245685	42949525	315	27927											
TOP2A	7153	genome.wustl.edu	37	chr17	38562675	38562675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaggaccagaatatttGaactggatacgatgtctttt	11	15	8	7	1	3	2	1	1	2	1	3	5	3	4	1	2	2	0	1	2	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:38562675G>T	ENST00000423485.1	-	16	2072	c.1914C>A	c.(1912-1914)ttC>ttA	p.F638L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	638					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CAGAATATTTGAACTGGATAC	0.358																																																	0													115	105	108					17																	38562675		1847	4088	5935	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"topoisomerase (DNA) II alpha (170kD)"	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1914C>A	17.37:g.38562675G>T	ENSP00000411532:p.Phe638Leu		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.F638L	ENST00000423485.1	37	c.1914	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207513	0.79240	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.24350	1.86	5.38	3.4	0.38934	DNA topoisomerase, type IIA, central (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	M	0.76002	2.32	0.80722	D	1	P	0.37997	0.614	B	0.36335	0.222	T	0.10200	-1.0640	10	0.59425	D	0.04	.	11.0794	0.48051	0.2067:0.0:0.7933:0.0	.	638	P11388	TOP2A_HUMAN	L	638;718;661;674	ENSP00000411532:F638L	ENSP00000269577:F718L	F	-	3	2	TOP2A	35816201	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.514000	0.35834	0.781000	0.33589	0.557000	0.71058	TTC	TOP2A	-	superfamily_Topo_IIA_like_dom,smart_Topo_IIA	ENSG00000131747		0.358	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1		0	52	0	G			38562675	-1			no_errors	ENST00000423485	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	T	T	38562675	G	T	38562675	3	4	97	1	0	0	0	0	1	0	0	0	16413	1281	45	3	2761	3	TOP2A	17	38562675	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	316990	38562675	42632535	316	27928											
EZH1	2145	genome.wustl.edu	37	chr17	40858038	40858038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccttcttaagtccaCgctggatgctgcagttttta	7	14	8	12	1	2	0	1	0	1	0	3	1	3	1	3	1	2	4	3	1	2	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:40858038C>T	ENST00000428826.2	-	16	1947	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000435174.1_Missense_Mutation_p.R470H|EZH1_ENST00000415827.2_Missense_Mutation_p.R600H|EZH1_ENST00000590078.1_Missense_Mutation_p.R539H|EZH1_ENST00000592743.1_Missense_Mutation_p.R609H|EZH1_ENST00000585893.1_Missense_Mutation_p.R569H			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	609					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CTTAAGTCCACGCTGGATGCT	0.542																																																	0													99	75	83					17																	40858038		2203	4300	6503	SO:0001583	missense	0				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"Chromatin-modifying enzymes / K-methyltransferases"	3526	protein-coding gene	gene with protein product		601674	"enhancer of zeste (Drosophila) homolog 1", "enhancer of zeste homolog 1 (Drosophila)"			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1826G>A	17.37:g.40858038C>T	ENSP00000404658:p.Arg609His		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.R609H	ENST00000428826.2	37	c.1826	CCDS32659.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039414	0.93630	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.80909	-1.43;-1.43	5.19	4.18	0.49190	.	0.046364	0.85682	D	0.000000	D	0.91385	0.7282	M	0.93016	3.37	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.988;0.992;0.992;0.992;0.983	D	0.92607	0.6096	10	0.56958	D	0.05	.	15.2595	0.73610	0.1405:0.8595:0.0:0.0	.	470;569;615;539;609	Q92800-5;Q92800-3;Q92800-2;Q92800-4;Q92800	.;.;.;.;EZH1_HUMAN	H	612;609;569;470	ENSP00000404658:R609H;ENSP00000404071:R470H	ENSP00000264646:R612H	R	-	2	0	EZH1	38111564	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.898000	0.69838	2.692000	0.91855	0.561000	0.74099	CGT	EZH1	-	NULL	ENSG00000108799		0.542	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	-	0	88	0	C	NM_001991		40858038	-1	tier1	-	no_errors	ENST00000428826	ensembl	human	known	74_37	missense	5.19	72	4	SNP	1.000	T	T	40858038	C	T	40858038	3	4	97	1	0	0	0	0	1	0	0	0	5349	536	19	1	441	1	EZH1	17	40858038	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2295363	40858038	40337172	317	27929											
C17orf53	78995	genome.wustl.edu	37	chr17	42225282	42225282	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactggctcactgcctgtGaatgctgggcgcctgagacc	6	11	12	12	1	1	2	1	2	0	1	1	3	1	2	3	2	3	2	3	2	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:42225282G>T	ENST00000319977.4	+	3	348	c.111G>T	c.(109-111)gtG>gtT	p.V37V	C17orf53_ENST00000245382.6_Silent_p.V37V|C17orf53_ENST00000585683.1_Silent_p.V37V	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	37										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CACTGCCTGTGAATGCTGGGC	0.552																																																	0													67	66	67					17																	42225282		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.111G>T	17.37:g.42225282G>T			A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	NULL	p.V37	ENST00000319977.4	37	c.111	CCDS11477.1	17																																																																																			C17orf53	-	NULL	ENSG00000125319		0.552	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	-	0	26	0	G	NM_024032		42225282	1	tier1	-	no_errors	ENST00000319977	ensembl	human	known	74_37	silent	15.79	16	3	SNP	0.002	T	T	42225282	G	T	42225282	2	4	97	1	0	0	0	0	0	0	0	1	1868	1277	45	3		3	C17orf53	17	42225282	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1367244	42225282	38969928	318	27930											
ATXN7L3	56970	genome.wustl.edu	37	chr17	42275036	42275036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgacagcccggtgtacCtcaaagcagaatcccaaaca	14	6	7	14	1	1	2	1	1	0	1	2	2	2	2	3	1	4	2	3	1	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:42275036C>A	ENST00000454077.2	-	2	113	c.114G>T	c.(112-114)gaG>gaT	p.E38D	ATXN7L3_ENST00000389384.4_Missense_Mutation_p.E38D|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000593073.1_Intron	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCGGTGTACCTCAAAGCAGA	0.547																																																	0													156	155	156					17																	42275036		2013	4183	6196	SO:0001583	missense	0			AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.114G>T	17.37:g.42275036C>A	ENSP00000397259:p.Glu38Asp			Missense_Mutation	SNP	pfam_SAGA_su_Sgf11,pfam_SCA7_dom	p.E38D	ENST00000454077.2	37	c.114	CCDS45697.1	17	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262619	0.59431	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.65	3.67	0.42095	.	0.000000	0.85682	U	0.000000	T	0.54255	0.1847	L	0.46614	1.455	0.50467	D	0.999871	B;D	0.56035	0.361;0.974	B;P	0.55615	0.042;0.78	T	0.47446	-0.9117	9	0.25106	T	0.35	.	9.1402	0.36899	0.0:0.893:0.0:0.107	.	38;38	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	D	38	.	ENSP00000374035:E38D	E	-	3	2	ATXN7L3	39630562	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	3.015000	0.49599	0.905000	0.36596	0.655000	0.94253	GAG	ATXN7L3	-	NULL	ENSG00000087152		0.547	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATXN7L3	HGNC	protein_coding	OTTHUMT00000457724.1	-	0	43	0	C			42275036	-1	tier1	-	no_errors	ENST00000454077	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	A	A	42275036	C	A	42275036	3	1	97	1	0	0	0	0	1	0	0	0	1219	680	24	3	994	3	ATXN7L3	17	42275036	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	49754	42275036	38920174	319	27931											
SLC4A1	6521	genome.wustl.edu	37	chr17	42336630	42336630	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaagcgtataggcacCggcagctccaccgcctccag	11	4	12	14	3	0	1	0	0	0	1	2	2	2	2	5	3	2	4	5	3	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:42336630C>A	ENST00000262418.6	-	9	932	c.777G>T	c.(775-777)ccG>ccT	p.P259P	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	259	Globular.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.P259P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTATAGGCACCGGCAGCTCCA	0.652																																																	1	Substitution - coding silent(1)	lung(1)											32	34	33					17																	42336630		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"CD molecules", "Blood group antigens", "Solute carriers"	11027	protein-coding gene	gene with protein product	"Froese blood group", "Swann blood group", "Wright blood group"	109270	"Waldner blood group", "erythrocyte membrane protein band 3", "Diego blood group", "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)", "solute carrier family 4 (anion exchanger), member 1"	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.777G>T	17.37:g.42336630C>A			G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.P259	ENST00000262418.6	37	c.777	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000004939		0.652	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1		0	51	0	C	NM_000342		42336630	-1			no_errors	ENST00000262418	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.000	A	A	42336630	C	A	42336630	2	1	97	1	0	0	0	0	0	0	0	1	14695	639	23	2		2	SLC4A1	17	42336630	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	61594	42336630	38858580	320	27932											
MYCBPAP	84073	genome.wustl.edu	37	chr17	48600309	48600309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccttccagaggcaggttGggattgctgctcacttgacc	6	11	11	13	0	1	2	1	1	0	1	3	3	3	3	4	3	2	4	4	3	0	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:48600309G>T	ENST00000323776.5	+	11	1558	c.1396G>T	c.(1396-1398)Ggg>Tgg	p.G466W	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.G429W	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAGGCAGGTTGGGATTGCTGC	0.502																																																	0													79	79	79					17																	48600309		2203	4300	6503	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1396G>T	17.37:g.48600309G>T	ENSP00000323184:p.Gly466Trp			Missense_Mutation	SNP	NULL	p.G466W	ENST00000323776.5	37	c.1396	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997222	0.54147	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.46451	0.87;0.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.80847	2.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.71533	-0.4564	10	0.87932	D	0	-21.6639	20.3422	0.98769	0.0:0.0:1.0:0.0	.	429	Q8TBZ2	MYBPP_HUMAN	W	466;429	ENSP00000323184:G466W;ENSP00000397209:G429W	ENSP00000323184:G466W	G	+	1	0	MYCBPAP	45955308	1.000000	0.71417	0.930000	0.37139	0.026000	0.11368	7.113000	0.77095	2.810000	0.96702	0.655000	0.94253	GGG	MYCBPAP	-	NULL	ENSG00000136449		0.502	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1		0	52	0	G	NM_032133		48600309	1			no_errors	ENST00000323776	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.999	T	T	48600309	G	T	48600309	3	4	97	1	0	0	0	0	1	0	0	0	10057	1348	47	3	1438	3	MYCBPAP	17	48600309	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6263679	48600309	32594901	321	27933											
TRIM37	4591	genome.wustl.edu	37	chr17	57138450	57138450	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagataagtagtaacctCgcacaactccatttccatcc	14	9	4	14	1	0	1	0	0	0	1	4	1	3	1	4	0	2	3	4	0	4	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:57138450C>A	ENST00000262294.7	-	12	1221	c.962G>T	c.(961-963)cGa>cTa	p.R321L	TRIM37_ENST00000376149.3_Missense_Mutation_p.R199L|RN7SL716P_ENST00000580539.1_RNA|TRIM37_ENST00000393066.3_Missense_Mutation_p.R321L|TRIM37_ENST00000393065.2_Missense_Mutation_p.R287L	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	321	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GTAGTAACCTCGCACAACTCC	0.328									Mulibrey Nanism																																								0													91	85	87					17																	57138450		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	7523	protein-coding gene	gene with protein product	"RING-B-box-coiled-coil protein"	605073	"tripartite motif-containing 37"	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.962G>T	17.37:g.57138450C>A	ENSP00000262294:p.Arg321Leu		Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.R321L	ENST00000262294.7	37	c.962	CCDS32694.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.545704	0.96488	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.7	5.7	0.88788	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.79118	0.4392	M	0.65975	2.015	0.80722	D	1	P;D;P	0.71674	0.93;0.998;0.766	P;D;P	0.80764	0.679;0.994;0.582	T	0.79366	-0.1833	10	0.62326	D	0.03	-28.9608	19.8478	0.96722	0.0:1.0:0.0:0.0	.	287;199;321	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	L	321;321;199;287	ENSP00000376785:R321L;ENSP00000262294:R321L;ENSP00000365319:R199L;ENSP00000376784:R287L	ENSP00000262294:R321L	R	-	2	0	TRIM37	54493232	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.503000	0.81632	2.698000	0.92095	0.655000	0.94253	CGA	TRIM37	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000108395		0.328	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	-	0	75	0	C	NM_015294		57138450	-1	tier1	-	no_errors	ENST00000262294	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	57138450	C	A	57138450	3	1	97	1	0	0	0	0	1	0	0	0	16559	884	31	2	1992	2	TRIM37	17	57138450	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	8538141	57138450	24056760	322	27934											
MARCH10	162333	genome.wustl.edu	37	chr17	60813487	60813487	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccttctgagttcattcttGatggagaggagctggaagaa	10	11	14	6	0	3	4	1	2	2	2	3	7	3	6	1	4	1	2	1	4	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:60813487G>C	ENST00000311269.5	-	6	2016	c.1742C>G	c.(1741-1743)tCa>tGa	p.S581*	RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000544856.2_Nonsense_Mutation_p.S580*|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.S581*|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.S619*	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	581	Poly-Ser.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GTTCATTCTTGATGGAGAGGA	0.423																																																	0													95	95	95					17																	60813487		2203	4300	6503	SO:0001587	stop_gained	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.1742C>G	17.37:g.60813487G>C	ENSP00000311496:p.Ser581*		D3DU09|Q8IYS7|Q8N7Z7	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S581*	ENST00000311269.5	37	c.1742	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471697	0.84533	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	.	.	.	5.37	4.38	0.52667	.	1.174740	0.06144	N	0.672930	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.3171	10.5341	0.44994	0.0939:0.0:0.9061:0.0	.	.	.	.	X	581;581;580	.	ENSP00000311496:S581X	S	-	2	0	MARCH10	58167219	0.015000	0.18098	0.011000	0.14972	0.037000	0.13140	1.939000	0.40213	2.676000	0.91093	0.561000	0.74099	TCA	MARCH10	-	NULL	ENSG00000173838		0.423	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1		0	49	0	G	NM_152598		60813487	-1			no_errors	ENST00000311269	ensembl	human	known	74_37	nonsense	10.34	26	3	SNP	0.008	C	C	60813487	G	C	60813487	4	2	97	1	0	0	0	0	0	1	0	0	9337	1294	45	5	708	5	MARCH10	17	60813487	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3675037	60813487	20381723	323	27935											
SCN4A	6329	genome.wustl.edu	37	chr17	62019124	62019124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcccgactccttcttgacGtaggcaaagttggacatgcc	9	10	10	12	2	1	1	0	1	1	0	2	3	2	2	3	2	2	3	3	2	2	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:62019124G>A	ENST00000435607.1	-	24	4594	c.4518C>T	c.(4516-4518)taC>taT	p.Y1506Y	SCN4A_ENST00000578147.1_Silent_p.Y1506Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1506					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTTCTTGACGTAGGCAAAGT	0.552																																																	0													138	130	133					17																	62019124		2203	4300	6503	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4518C>T	17.37:g.62019124G>A			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.Y1506	ENST00000435607.1	37	c.4518	CCDS45761.1	17																																																																																			SCN4A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000007314		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0	71	0	G	NM_000334		62019124	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	27.12	43	16	SNP	1.000	A	A	62019124	G	A	62019124	2	1	97	1	0	0	0	0	0	0	0	1	13965	1140	40	1		1	SCN4A	17	62019124	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1205637	62019124	19176086	324	27936											
GNA13	10672	genome.wustl.edu	37	chr17	63052436	63052436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccggcccggcacctttgatCacgttgctgtagatggtggg	5	10	14	12	3	1	2	1	1	0	1	1	2	1	2	3	4	1	4	3	4	1	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:63052436C>T	ENST00000439174.2	-	1	521	c.276G>A	c.(274-276)gtG>gtA	p.V92V	GNA13_ENST00000541118.1_5'Flank	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	92					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						caccTTTGATCACGTTGCTGT	0.711																																																	0													22	25	24					17																	63052436		2202	4299	6501	SO:0001819	synonymous_variant	0			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.276G>A	17.37:g.63052436C>T			B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12	p.V92	ENST00000439174.2	37	c.276	CCDS11661.1	17																																																																																			GNA13	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_12	ENSG00000120063		0.711	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA13	HGNC	protein_coding	OTTHUMT00000445720.1	-	0	55	0	C	NM_006572		63052436	-1	tier1	-	no_errors	ENST00000439174	ensembl	human	known	74_37	silent	12.82	68	10	SNP	0.994	T	T	63052436	C	T	63052436	2	4	97	1	0	0	0	0	0	0	0	1	6527	813	29	3		3	GNA13	17	63052436	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	1033312	63052436	18142774	325	27937											
ABCA8	10351	genome.wustl.edu	37	chr17	66871852	66871852	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacccctttccgtgtttcTaaaggtggcccggatggcct	5	11	12	13	2	1	0	0	0	1	0	2	1	2	1	5	5	0	2	5	5	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:66871852T>G	ENST00000269080.2	-	34	4410	c.4273A>C	c.(4273-4275)Aga>Cga	p.R1425R	ABCA8_ENST00000430352.2_Silent_p.R1465R|ABCA8_ENST00000586539.1_Silent_p.R1465R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1425	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCGTGTTTCTAAAGGTGGCC	0.468																																																	0													73	58	63					17																	66871852		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"ATP binding cassette transporters / subfamily A"	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4273A>C	17.37:g.66871852T>G			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1465	ENST00000269080.2	37	c.4393	CCDS11680.1	17																																																																																			ABCA8	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.468	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0	61	0	T	NM_007168		66871852	-1	tier1	-	no_errors	ENST00000430352	ensembl	human	known	74_37	silent	45.24	23	19	SNP	0.642	G	G	66871852	T	G	66871852	2	3	97	1	0	0	0	0	0	0	0	1	38	1530	53	4		4	ABCA8	17	66871852	Silent	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	3819416	66871852	14323358	326	27938											
KCNJ2	3759	genome.wustl.edu	37	chr17	68171512	68171512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgatagctctgctccatgGggacctggatgcatccaaag	9	10	12	10	0	1	1	0	1	1	0	3	3	3	3	3	3	3	4	3	3	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:68171512G>T	ENST00000243457.3	+	2	715	c.332G>T	c.(331-333)gGg>gTg	p.G111V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G111V	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	111					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CTGCTCCATGGGGACCTGGAT	0.532																																																	0													158	151	153					17																	68171512		2203	4300	6503	SO:0001583	missense	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.332G>T	17.37:g.68171512G>T	ENSP00000243457:p.Gly111Val		O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.G111V	ENST00000243457.3	37	c.332	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172940	0.57584	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95885	-3.84;-3.84	5.66	5.66	0.87406	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.046270	0.85682	D	0.000000	D	0.98422	0.9475	H	0.96861	3.895	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99087	1.0839	9	.	.	.	.	13.0018	0.58681	0.0735:0.0:0.9265:0.0	.	111	P63252	IRK2_HUMAN	V	111	ENSP00000441848:G111V;ENSP00000243457:G111V	.	G	+	2	0	KCNJ2	65683107	1.000000	0.71417	0.974000	0.42286	0.945000	0.59286	8.061000	0.89467	2.662000	0.90505	0.555000	0.69702	GGG	KCNJ2	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.532	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	-	0	65	0	G	NM_000891		68171512	1	tier1	-	no_errors	ENST00000243457	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	68171512	G	T	68171512	3	4	97	1	0	0	0	0	1	0	0	0	8078	1232	43	3	334	3	KCNJ2	17	68171512	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1299660	68171512	13023698	327	27939											
MFSD11	79157	genome.wustl.edu	37	chr17	74774312	74774312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctacagcaactaccttCtccttcactggcaactcctg	8	14	4	15	0	3	0	1	0	2	0	5	0	4	0	3	1	5	2	3	1	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:74774312C>A	ENST00000588460.1	+	13	3270	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	MFSD11_ENST00000355954.3_Missense_Mutation_p.L358I|MFSD11_ENST00000336509.4_Missense_Mutation_p.L410I|MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000593181.1_Missense_Mutation_p.L358I|MFSD11_ENST00000586622.1_Missense_Mutation_p.L410I|MFSD11_ENST00000590514.1_Missense_Mutation_p.L410I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	410						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CAACTACCTTCTCCTTCACTG	0.498																																																	0													184	168	173					17																	74774312		2203	4300	6503	SO:0001583	missense	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.1228C>A	17.37:g.74774312C>A	ENSP00000464932:p.Leu410Ile		O43442|Q9NXI5	Missense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L410I	ENST00000588460.1	37	c.1228	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653794	0.47362	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	D;D	0.81659	-1.52;-1.52	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.74298	0.3698	L	0.52126	1.63	0.53688	D	0.999971	B;B	0.32753	0.383;0.248	B;B	0.28849	0.095;0.071	T	0.69851	-0.5033	10	0.22706	T	0.39	-22.8107	14.4328	0.67261	0.0:0.9293:0.0:0.0707	.	358;410	O43934-2;O43934	.;MFS11_HUMAN	I	410;358	ENSP00000337240:L410I;ENSP00000348225:L358I	ENSP00000337240:L410I	L	+	1	0	MFSD11	72285907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.812000	0.62613	2.885000	0.99019	0.655000	0.94253	CTC	MFSD11	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.498	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1		0	11	0	C	NM_024311		74774312	1			no_errors	ENST00000336509	ensembl	human	known	74_37	missense	9.52	19	2	SNP	1.000	A	A	74774312	C	A	74774312	3	1	97	1	0	0	0	0	1	0	0	0	9567	913	32	3	1278	3	MFSD11	17	74774312	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	6602800	74774312	6420898	328	27940											
DNAH17	8632	genome.wustl.edu	37	chr17	76570976	76570976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccggctgcattgagcGtcagcaccagcacctggacg	8	7	12	14	3	2	1	2	1	0	0	2	2	2	2	3	2	5	4	3	2	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:76570976G>A	ENST00000585328.1	-	2	288	c.164C>T	c.(163-165)aCg>aTg	p.T55M	DNAH17_ENST00000389840.5_Missense_Mutation_p.T55M	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	55	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCATTGAGCGTCAGCACCAG	0.552																																																	0													91	95	94					17																	76570976		2051	4218	6269	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"Axonemal dyneins"	2946	protein-coding gene	gene with protein product		610063	"dynein, axonemal, heavy polypeptide 17", "dynein, axonemal, heavy chain like 1", "dynein, axonemal, heavy like 1"	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.164C>T	17.37:g.76570976G>A	ENSP00000465516:p.Thr55Met		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.T55M	ENST00000585328.1	37	c.164		17	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592603	0.28357	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.24723	1.84	5.11	5.11	0.69529	.	.	.	.	.	T	0.30978	0.0782	L	0.39898	1.24	0.28393	N	0.918975	.	.	.	.	.	.	T	0.11108	-1.0601	7	0.34782	T	0.22	.	14.8678	0.70430	0.0:0.1444:0.8556:0.0	.	.	.	.	M	55	ENSP00000374490:T55M	ENSP00000300671:T55M	T	-	2	0	DNAH17	74082571	0.027000	0.19231	0.910000	0.35882	0.091000	0.18340	0.662000	0.25038	2.375000	0.81037	0.563000	0.77884	ACG	DNAH17	-	NULL	ENSG00000187775		0.552	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0	62	0	G	NM_173628		76570976	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	22.41	45	13	SNP	0.918	A	A	76570976	G	A	76570976	3	1	97	1	0	0	0	0	1	0	0	0	4615	1145	40	1	13544	1	DNAH17	17	76570976	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1796664	76570976	4624234	329	27941											
C1QTNF1	114897	genome.wustl.edu	37	chr17	77043850	77043850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagttcgtgaacctctacGaccacttcaacatgttcacc	10	10	7	14	3	3	1	2	1	1	0	4	3	3	2	3	1	3	2	3	1	3	4	rs373450378		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr17:77043850G>T	ENST00000339142.2	+	5	1081	c.526G>T	c.(526-528)Gac>Tac	p.D176Y	C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186Y|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94Y|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94Y|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176Y|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176Y	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GAACCTCTACGACCACTTCAA	0.562																																																	0													163	149	154					17																	77043850		2203	4300	6503	SO:0001583	missense	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"G protein coupled receptor interacting protein"	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.526G>T	17.37:g.77043850G>T	ENSP00000340864:p.Asp176Tyr		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.D186Y	ENST00000339142.2	37	c.556	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908138	0.52333	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	T;T;T	0.24151	1.87;1.87;1.87	4.72	-4.91	0.03085	Tumour necrosis factor-like (2);Complement C1q protein (4);	1.337000	0.04802	N	0.433541	T	0.27866	0.0686	L	0.36672	1.1	0.09310	N	0.999996	P;P;P	0.42556	0.783;0.783;0.498	P;P;P	0.48770	0.589;0.461;0.461	T	0.48581	-0.9023	10	0.72032	D	0.01	.	9.5063	0.39048	0.4158:0.0933:0.4909:0.0	.	186;186;176	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	Y	176;94;186;176;186	ENSP00000340864:D176Y;ENSP00000311265:D94Y;ENSP00000343230:D186Y	ENSP00000311265:D94Y	D	+	1	0	C1QTNF1	74555445	0.998000	0.40836	0.908000	0.35775	0.933000	0.57130	1.054000	0.30455	-0.826000	0.04284	-1.134000	0.01955	GAC	C1QTNF1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000173918		0.562	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2		0	36	0	G	NM_030968		77043850	1			no_errors	ENST00000354124	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.364	T	T	77043850	G	T	77043850	3	4	97	1	0	0	0	0	1	0	0	0	1969	1058	37	2	536	2	C1QTNF1	17	77043850	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	472874	77043850	4151360	330	27942											
LAMA1	284217	genome.wustl.edu	37	chr18	6993683	6993683	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatggctatggccaggtcTtgactctccttgaagattct	8	14	9	10	0	4	3	1	2	3	1	5	3	4	3	2	3	0	1	2	3	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:6993683T>C	ENST00000389658.3	-	35	5058	c.4965A>G	c.(4963-4965)caA>caG	p.Q1655Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1655	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TGGCCAGGTCTTGACTCTCCT	0.453																																																	0													203	182	189					18																	6993683		2203	4300	6503	SO:0001819	synonymous_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4965A>G	18.37:g.6993683T>C				Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q1655	ENST00000389658.3	37	c.4965	CCDS32787.1	18																																																																																			LAMA1	-	pfam_Laminin_I	ENSG00000101680		0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1		0	14	0	T	NM_005559		6993683	-1			no_errors	ENST00000389658	ensembl	human	known	74_37	silent	58.33	5	7	SNP	0.000	C	C	6993683	T	C	6993683	2	2	97	1	0	0	0	0	0	0	0	1	8633	1606	56	4		4	LAMA1	18	6993683	Silent	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09		6993683	71083565	331	27943											
MC2R	4158	genome.wustl.edu	37	chr18	13885085	13885085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaccaccacagtgcggcGcatggtcacgatgctgtggt	9	7	13	12	3	1	0	1	0	0	0	1	1	1	0	2	3	3	3	2	3	1	0	rs139218324		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:13885085G>A	ENST00000327606.3	-	2	613	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	145					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGTGCGGCGCATGGTCACG	0.577																																					Colon(141;1584 1782 35999 48227 48692)												0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	117	93	101		433	4.3	1	18	dbSNP_134	101	0,8600		0,0,4300	no	missense	MC2R	NM_000529.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	145/298	13885085	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"GPCR / Class A : Melanocortin receptors"	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.433C>T	18.37:g.13885085G>A	ENSP00000333821:p.Arg145Cys		A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn	p.R145C	ENST00000327606.3	37	c.433	CCDS11869.1	18	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714107	0.68730	2.27E-4	0.0	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.43294	0.95	5.28	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.334548	0.31809	N	0.007026	T	0.59115	0.2170	M	0.72894	2.215	0.46678	D	0.999151	D	0.76494	0.999	P	0.62740	0.906	T	0.62651	-0.6809	10	0.62326	D	0.03	.	12.8208	0.57692	0.0:0.0:0.6872:0.3128	.	145	Q01718	ACTHR_HUMAN	C	145	ENSP00000333821:R145C	ENSP00000333821:R145C	R	-	1	0	MC2R	13875085	0.936000	0.31750	0.999000	0.59377	0.872000	0.50106	2.317000	0.43770	2.469000	0.83416	0.655000	0.94253	CGC	MC2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185231		0.577	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	-	0	33	0	G			13885085	-1	tier1	rs139218324	no_errors	ENST00000327606	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.998	A	A	13885085	G	A	13885085	3	1	97	1	0	0	0	0	1	0	0	0	9402	1087	38	1	464	1	MC2R	18	13885085	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6891402	13885085	64192163	332	27944											
CCBE1	147372	genome.wustl.edu	37	chr18	57106801	57106802	+	Frame_Shift_Ins	INS	-	-	A																															ccatctcttcctggtgccccINStggtggaccctgtaatacaa																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:57106801_57106802insA	ENST00000439986.4	-	9	961_962	c.924_925insT	c.(922-927)ccagggfs	p.G309fs	CCBE1_ENST00000398179.2_Frame_Shift_Ins_p.G38fs	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	309	Collagen-like 2.				lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCTGGTGCCCCTGGTGGACCCT	0.411																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)												0																																										SO:0001589	frameshift_variant	0			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.924_925insT	18.37:g.57106801_57106802insA	ENSP00000404464:p.Gly309fs		Q6MZX5|Q86SS2|Q8TF19	Frame_Shift_Ins	INS	pfam_Collagen,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.G308fs	ENST00000439986.4	37	c.925_924	CCDS32838.1	18																																																																																			CCBE1	-	pfam_Collagen	ENSG00000183287		0.411	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBE1	HGNC	protein_coding	OTTHUMT00000449685.2		0	56	0	-	NM_133459		57106802	-1	tier1		no_errors	ENST00000439986	ensembl	human	known	74_37	frame_shift_ins	5.41	35	2	INS	1.000:0.997	A	A	57106802	-	A	57106801	7	5	97	1	0	1	1	0	0	0	0	0	2738	681	24	0	307	0	CCBE1	18	57106801	Frame_Shift_Ins	INS	-	TCGA-L7-A6VZ-01A-12D-A33E-09	43221716	57106801	20970447	333	27945											
RTTN	25914	genome.wustl.edu	37	chr18	67755342	67755342	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccacacagcccgtttcaagGgtggtcagtgctgatcctaa	9	9	11	12	1	2	1	2	1	0	0	3	1	3	1	3	2	2	2	3	2	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr18:67755342G>T	ENST00000255674.6	-	31	4471	c.4185C>A	c.(4183-4185)acC>acA	p.T1395T	RTTN_ENST00000437017.1_Silent_p.T1395T|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1395					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCGTTTCAAGGGTGGTCAGTG	0.438																																																	0													104	100	101					18																	67755342		1905	4113	6018	SO:0001819	synonymous_variant	0			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.4185C>A	18.37:g.67755342G>T			Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.T1395	ENST00000255674.6	37	c.4185	CCDS42443.1	18																																																																																			RTTN	-	NULL	ENSG00000176225		0.438	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1		0	69	0	G	NM_173630		67755342	-1			no_errors	ENST00000255674	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.811	T	T	67755342	G	T	67755342	2	4	97	1	0	0	0	0	0	0	0	1	13782	1219	43	3		3	RTTN	18	67755342	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	10648541	67755342	10321906	334	27946											
PRSSL1	400668	genome.wustl.edu	37	chr19	685820	685820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacaaaggcggacacctGcgtgtacacgtcgggggtct	8	6	15	12	4	1	0	0	0	1	0	2	1	1	1	2	5	2	1	2	5	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:685820G>T	ENST00000329267.7	-	5	777	c.748C>A	c.(748-750)Cag>Aag	p.Q250K		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	250	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						GCGGACACCTGCGTGTACACG	0.711																																																	0													15	17	16					19																	685820		2181	4278	6459	SO:0001583	missense	0			AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"Serine peptidases / Serine peptidases"	31397	protein-coding gene	gene with protein product			"protease, serine-like 1"	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.748C>A	19.37:g.685820G>T	ENSP00000327386:p.Gln250Lys		B2RNW8	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Q250K	ENST00000329267.7	37	c.748	CCDS12041.1	19	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.631702	0.00806	.	.	ENSG00000185198	ENST00000329267	D	0.92099	-2.97	4.77	3.72	0.42706	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.488453	0.15748	N	0.246553	T	0.78723	0.4328	N	0.03115	-0.41	0.09310	N	1	B;B	0.18013	0.012;0.025	B;B	0.20577	0.03;0.03	T	0.60606	-0.7230	10	0.02654	T	1	.	11.9504	0.52952	0.0:0.0:0.686:0.3139	.	249;250	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	K	250	ENSP00000327386:Q250K	ENSP00000327386:Q250K	Q	-	1	0	PRSS57	636820	0.302000	0.24454	0.039000	0.18376	0.016000	0.09150	3.686000	0.54685	1.015000	0.39444	-0.666000	0.03841	CAG	PRSS57	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000185198		0.711	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS57	HGNC	protein_coding	OTTHUMT00000452480.2		0	65	0	G	NM_214710		685820	-1			no_errors	ENST00000329267	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.017	T	T	685820	G	T	685820	3	4	97	1	0	0	0	0	1	0	0	0	12678	1328	46	3	107	3	PRSSL1	19	685820	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		685820	58443163	335	27947											
SBNO2	22904	genome.wustl.edu	37	chr19	1109592	1109592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttcaggccgcggtccacGctgatctgccacggcacggg	6	6	13	16	5	2	1	1	1	1	0	3	1	3	1	3	4	1	2	3	4	0	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:1109592G>A	ENST00000361757.3	-	28	3366	c.3129C>T	c.(3127-3129)agC>agT	p.S1043S	SBNO2_ENST00000438103.2_Silent_p.S986S|SBNO2_ENST00000587024.1_Silent_p.S1033S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	1043					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)			p.S1043R(1)|p.S1061R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGTCCACGCTGATCTGCC	0.672																																																	2	Substitution - Missense(2)	central_nervous_system(2)											6	7	7					19																	1109592		1849	4017	5866	SO:0001819	synonymous_variant	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"KIAA0963"	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3129C>T	19.37:g.1109592G>A			A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Silent	SNP	superfamily_P-loop_NTPase	p.S1043	ENST00000361757.3	37	c.3129	CCDS45894.1	19																																																																																			SBNO2	-	NULL	ENSG00000064932		0.672	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2		0	27	0	G	NM_014963		1109592	-1			no_errors	ENST00000361757	ensembl	human	known	74_37	silent	22.22	14	4	SNP	0.821	A	A	1109592	G	A	1109592	2	1	97	1	0	0	0	0	0	0	0	1	13908	1078	38	1		1	SBNO2	19	1109592	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	423772	1109592	58019391	336	27948											
MKNK2	2872	genome.wustl.edu	37	chr19	2046390	2046390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacctgcccgagaagctgtCggtggcccggccgcgcttct	6	7	13	15	5	1	1	0	0	1	1	2	2	1	1	4	3	3	2	4	3	2	1	rs56158214		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:2046390C>T	ENST00000591601.1	-	3	252	c.217G>A	c.(217-219)Gac>Aac	p.D73N	MKNK2_ENST00000309340.7_Missense_Mutation_p.D73N|MKNK2_ENST00000250896.3_Missense_Mutation_p.D73N|MKNK2_ENST00000541165.1_5'UTR			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	73			D -> N (in dbSNP:rs56158214). {ECO:0000269|PubMed:17344846}.		cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGCTGTCGGTGGCCCGG	0.687																																																	0													34	41	39					19																	2046390		2202	4300	6502	SO:0001583	missense	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"Putative map kinase interacting kinase"	605069	"G protein-coupled receptor kinase 7"	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.217G>A	19.37:g.2046390C>T	ENSP00000467811:p.Asp73Asn		Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D73N	ENST00000591601.1	37	c.217	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593760	0.86953	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000545627	T;T	0.68181	-0.31;-0.28	4.61	4.61	0.57282	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.76328	2.33	0.80722	D	1	D;P	0.60160	0.987;0.925	P;B	0.52598	0.703;0.397	T	0.77432	-0.2590	10	0.45353	T	0.12	-5.48	16.5191	0.84309	0.0:1.0:0.0:0.0	rs56158214	73;73	Q9HBH9;Q9HBH9-2	MKNK2_HUMAN;.	N	73;73;26	ENSP00000309485:D73N;ENSP00000250896:D73N	ENSP00000250896:D73N	D	-	1	0	MKNK2	1997390	1.000000	0.71417	0.959000	0.39883	0.932000	0.56968	7.205000	0.77881	2.549000	0.85964	0.484000	0.47621	GAC	MKNK2	-	pfam_LipoPS_kinase,superfamily_Kinase-like_dom	ENSG00000099875		0.687	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	-	0	28	0	C	NM_199054		2046390	-1	tier1	rs56158214	no_errors	ENST00000250896	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.999	T	T	2046390	C	T	2046390	3	4	97	1	0	0	0	0	1	0	0	0	9643	884	31	1	1319	1	MKNK2	19	2046390	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	936798	2046390	57082593	337	27949											
TLE2	7089	genome.wustl.edu	37	chr19	3000648	3000648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagaccgccgagtacctgGaaaatgctggccccgtacgg	9	6	12	14	4	0	1	0	0	0	1	1	3	1	2	6	3	3	3	6	3	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:3000648G>T	ENST00000262953.6	-	19	2383	c.2121C>A	c.(2119-2121)ttC>ttA	p.F707L	TLE2_ENST00000591529.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.F585L|TLE2_ENST00000426948.2_Intron|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000443826.3_Missense_Mutation_p.F585L|TLE2_ENST00000590536.1_Missense_Mutation_p.F708L|TLE2_ENST00000447365.2_Missense_Mutation_p.F374L	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	707					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGTACCTGGAAAATGCTGG	0.642																																																	0													19	21	20					19																	3000648		1958	4137	6095	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.2121C>A	19.37:g.3000648G>T	ENSP00000262953:p.Phe707Leu		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F707L	ENST00000262953.6	37	c.2121	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821650	0.50633	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000447365;ENST00000443826	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	3.96	1.7	0.24286	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.113706	0.64402	D	0.000012	T	0.16171	0.0389	L	0.28014	0.82	0.80722	D	1	D;D;D;D	0.64830	0.992;0.994;0.992;0.992	D;P;D;D	0.69654	0.948;0.676;0.965;0.965	T	0.01464	-1.1348	10	0.51188	T	0.08	-11.4584	8.7985	0.34894	0.1816:0.0:0.8183:0.0	.	585;374;585;707	E9PEV7;B4DE62;B4DE03;Q04725	.;.;.;TLE2_HUMAN	L	707;585;256;374;585	ENSP00000262953:F707L;ENSP00000413107:F585L;ENSP00000406523:F374L;ENSP00000392427:F585L	ENSP00000262953:F707L	F	-	3	2	TLE2	2951648	1.000000	0.71417	0.996000	0.52242	0.600000	0.36913	5.400000	0.66320	0.434000	0.26340	0.444000	0.29173	TTC	TLE2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat_dom	ENSG00000065717		0.642	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	-	0	58	0	G	NM_003260		3000648	-1	tier1	-	no_errors	ENST00000262953	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	3000648	G	T	3000648	3	4	97	1	0	0	0	0	1	0	0	0	15986	1165	41	3	118	3	TLE2	19	3000648	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	954258	3000648	56128335	338	27950											
KDM4B	23030	genome.wustl.edu	37	chr19	5144037	5144037	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgtatccagtgctcCtacgagcactgctccacgtc	6	10	10	15	2	0	0	0	0	0	0	4	1	3	0	4	1	5	4	4	1	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:5144037C>A	ENST00000159111.4	+	19	2828	c.2610C>A	c.(2608-2610)tcC>tcA	p.S870S	KDM4B_ENST00000536461.1_Silent_p.S904S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	870					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCCAGTGCTCCTACGAGCACT	0.632																																																	0													91	82	85					19																	5144037		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	29136	protein-coding gene	gene with protein product	"tudor domain containing 14B"	609765	"jumonji domain containing 2B"	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2610C>A	19.37:g.5144037C>A			B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.S870	ENST00000159111.4	37	c.2610	CCDS12138.1	19																																																																																			KDM4B	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000127663		0.632	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1		0	41	0	C	NM_015015		5144037	1			no_errors	ENST00000159111	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.974	A	A	5144037	C	A	5144037	2	1	97	1	0	0	0	0	0	0	0	1	8156	668	24	3		3	KDM4B	19	5144037	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	2143389	5144037	53984946	339	27951											
MLLT1	4298	genome.wustl.edu	37	chr19	6222526	6222526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggcgccttctcctccttgGgcagccggccctcgcccagc	2	8	12	19	3	1	0	0	0	1	0	4	0	2	0	6	3	2	1	6	3	0	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:6222526G>A	ENST00000252674.7	-	6	879	c.716C>T	c.(715-717)cCc>cTc	p.P239L		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	239					negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTCCTCCTTGGGCAGCCGGCC	0.642			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"		L	0													31	31	31					19																	6222526		2203	4300	6503	SO:0001583	missense	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.716C>T	19.37:g.6222526G>A	ENSP00000252674:p.Pro239Leu		Q14768	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.P239L	ENST00000252674.7	37	c.716	CCDS12160.1	19	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252539	0.22880	.	.	ENSG00000130382	ENST00000252674	.	.	.	4.55	3.51	0.40186	.	0.187334	0.47852	D	0.000218	T	0.32466	0.0830	N	0.17082	0.46	0.47037	D	0.999299	B	0.29188	0.236	B	0.24848	0.056	T	0.13202	-1.0518	9	0.51188	T	0.08	-23.4251	7.7978	0.29158	0.193:0.0:0.807:0.0	.	239	Q03111	ENL_HUMAN	L	239	.	ENSP00000252674:P239L	P	-	2	0	MLLT1	6173526	1.000000	0.71417	0.951000	0.38953	0.797000	0.45037	4.711000	0.61881	0.911000	0.36747	0.511000	0.50034	CCC	MLLT1	-	NULL	ENSG00000130382		0.642	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT1	HGNC	protein_coding	OTTHUMT00000452909.1	-	0	54	0	G	NM_005934		6222526	-1	tier1	-	no_errors	ENST00000252674	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.995	A	A	6222526	G	A	6222526	3	1	97	1	0	0	0	0	1	0	0	0	9663	1232	43	3	991	3	MLLT1	19	6222526	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1078489	6222526	52906457	340	27952											
MUC16	94025	genome.wustl.edu	37	chr19	9067010	9067010	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgaggaaacaggaggtgaAgtcatggctggtgaaggcat	12	8	17	4	0	1	3	1	3	0	0	1	5	1	5	0	6	1	3	0	6	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:9067010A>T	ENST00000397910.4	-	3	20639	c.20436T>A	c.(20434-20436)acT>acA	p.T6812T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6814	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGAGGTGAAGTCATGGCTG	0.483																																																	0													161	160	160					19																	9067010		2073	4223	6296	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20436T>A	19.37:g.9067010A>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T6812	ENST00000397910.4	37	c.20436	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	25	0	A	NM_024690		9067010	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.000	T	T	9067010	A	T	9067010	2	4	97	1	0	0	0	0	0	0	0	1	10011	59	3	5		5	MUC16	19	9067010	Silent	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	2844484	9067010	50061973	341	27953											
MUC16	94025	genome.wustl.edu	37	chr19	9075457	9075457	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagactctggccatgtggTtgttgacatagaaactattg	10	14	11	6	0	1	3	0	1	1	2	1	3	1	3	1	2	1	3	1	2	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:9075457T>G	ENST00000397910.4	-	3	12192	c.11989A>C	c.(11989-11991)Acc>Ccc	p.T3997P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3999	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCCATGTGGTTGTTGACATA	0.488																																																	0													88	85	86					19																	9075457		2077	4192	6269	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11989A>C	19.37:g.9075457T>G	ENSP00000381008:p.Thr3997Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.T3997P	ENST00000397910.4	37	c.11989	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	1.953	-0.440861	0.04636	.	.	ENSG00000181143	ENST00000397910	T	0.14640	2.49	1.64	-3.28	0.05033	.	.	.	.	.	T	0.05273	0.0140	N	0.05441	-0.05	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.34551	-0.9824	8	0.87932	D	0	.	0.9752	0.01424	0.196:0.1611:0.3944:0.2484	.	3997	B5ME49	.	P	3997	ENSP00000381008:T3997P	ENSP00000381008:T3997P	T	-	1	0	MUC16	8936457	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.606000	0.00209	-1.632000	0.01541	0.260000	0.18958	ACC	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	60	0	T	NM_024690		9075457	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	24.59	46	15	SNP	0.000	G	G	9075457	T	G	9075457	3	3	97	1	0	0	0	0	1	0	0	0	10011	1725	60	4	31862	4	MUC16	19	9075457	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	8447	9075457	50053526	342	27954											
LOC55908	55908	genome.wustl.edu	37	chr19	11352209	11352209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggcacagcagcatcGgctgcgacagatccaggaga	11	5	15	10	2	0	2	0	0	0	2	2	5	1	2	1	4	3	4	1	4	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:11352209G>A	ENST00000252453.8	+	3	567	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	DOCK6_ENST00000294618.7_Intron|C19orf80_ENST00000591200.1_Missense_Mutation_p.R84Q	NM_018687.6	NP_061157.3	Q6UXH0	BETAT_HUMAN	chromosome 19 open reading frame 80	183					cellular lipid metabolic process (GO:0044255)|glucose metabolic process (GO:0006006)|positive regulation of protein processing (GO:0010954)|regulation of lipoprotein metabolic process (GO:0050746)|triglyceride homeostasis (GO:0070328)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(1)|breast(1)|endometrium(2)	4						CAGCAGCATCGGCTGCGACAG	0.667																																																	0													8	14	12					19																	11352209		2088	4096	6184	SO:0001583	missense	0				CCDS54220.1	19p13.2	2014-02-13			ENSG00000130173	ENSG00000130173			24933	protein-coding gene	gene with protein product	"lipasin", "betatrophin"					22809513, 23150577, 24262987	Standard	NM_018687		Approved	TD26, RIFL, ANGPTL8	uc021upg.1	Q6UXH0		ENST00000252453.8:c.548G>A	19.37:g.11352209G>A	ENSP00000252453:p.Arg183Gln		Q9NQZ1	Missense_Mutation	SNP	NULL	p.R183Q	ENST00000252453.8	37	c.548	CCDS54220.1	19	.	.	.	.	.	.	.	.	.	.	G	5.784	0.328932	0.10956	.	.	ENSG00000130173	ENST00000397785;ENST00000252453	T	0.28255	1.62	3.93	0.182	0.15077	.	0.939485	0.08718	N	0.903878	T	0.14184	0.0343	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.10450	0.005	T	0.32851	-0.9891	10	0.02654	T	1	-6.7999	3.1269	0.06411	0.278:0.2316:0.4904:0.0	.	183	Q6UXH0	TD26_HUMAN	Q	108;183	ENSP00000252453:R183Q	ENSP00000252453:R183Q	R	+	2	0	C19orf80	11213209	0.348000	0.24861	0.198000	0.23420	0.788000	0.44548	0.281000	0.18810	0.294000	0.22547	0.306000	0.20318	CGG	C19orf80	-	NULL	ENSG00000130173		0.667	C19orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf80	HGNC	protein_coding	OTTHUMT00000453175.1	-	0	47	0	G	NM_018687		11352209	1	tier1	-	no_errors	ENST00000252453	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.161	A	A	11352209	G	A	11352209	3	1	97	1	0	0	0	0	1	0	0	0	8915	1116	39	1	558	1	LOC55908	19	11352209	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2276752	11352209	47776774	343	27955											
NOTCH3	4854	genome.wustl.edu	37	chr19	15281176	15281176	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggcccacgggttcccGccggcccttgtgaccagagg	4	7	14	16	3	0	2	0	1	0	1	2	2	2	2	6	4	0	1	6	4	0	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:15281176G>T	ENST00000263388.2	-	27	5155	c.5080C>A	c.(5080-5082)Cgg>Agg	p.R1694R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1694					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGGGTTCCCGCCGGCCCTTG	0.667																																																	0													38	41	40					19																	15281176		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5080C>A	19.37:g.15281176G>T			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R1694	ENST00000263388.2	37	c.5080	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch	ENSG00000074181		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	54	0	G	NM_000435		15281176	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	8.51	43	4	SNP	1.000	T	T	15281176	G	T	15281176	2	4	97	1	0	0	0	0	0	0	0	1	10589	1086	38	2		2	NOTCH3	19	15281176	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3928967	15281176	43847807	344	27956											
NOTCH3	4854	genome.wustl.edu	37	chr19	15289688	15289688	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggacccgggctaggacgGcactggcctccatgctggca	7	5	14	15	2	0	0	0	0	0	0	1	2	1	2	4	6	1	4	4	6	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:15289688G>T	ENST00000263388.2	-	23	3858	c.3783C>A	c.(3781-3783)tgC>tgA	p.C1261*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1261	EGF-like 32. {ECO:0000255|PROSITE- ProRule:PRU00076}.		C -> R (in CADASIL). {ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:9388399}.|C -> Y (in CADASIL). {ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCTAGGACGGCACTGGCCTC	0.652																																																	0													36	34	35					19																	15289688		2201	4298	6499	SO:0001587	stop_gained	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3783C>A	19.37:g.15289688G>T	ENSP00000263388:p.Cys1261*		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.C1261*	ENST00000263388.2	37	c.3783	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	G	42	9.550573	0.99202	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	2.68	0.525	0.17072	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6935	0.12791	0.3111:0.0:0.6889:0.0	.	.	.	.	X	1261;1211	.	ENSP00000263388:C1261X	C	-	3	2	NOTCH3	15150688	0.550000	0.26489	0.739000	0.30968	0.953000	0.61014	0.823000	0.27366	0.213000	0.20722	0.561000	0.74099	TGC	NOTCH3	-	pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000074181		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	69	0	G	NM_000435		15289688	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	nonsense	6.15	61	4	SNP	0.982	T	T	15289688	G	T	15289688	4	4	97	1	0	0	0	0	0	1	0	0	10589	1195	42	3	3226	3	NOTCH3	19	15289688	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8512	15289688	43839295	345	27957											
CYP4F2	8529	genome.wustl.edu	37	chr19	15990453	15990453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgggttgtgatgggttccGaaaacactgatgaggcagat	10	10	15	6	1	0	4	0	3	0	1	1	5	1	4	1	3	1	4	1	3	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:15990453G>A	ENST00000221700.6	-	11	1370	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GATGGGTTCCGAAAACACTGA	0.592																																																	0													123	130	128					19																	15990453		2203	4300	6503	SO:0001819	synonymous_variant	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1275C>T	19.37:g.15990453G>A				Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F425	ENST00000221700.6	37	c.1275	CCDS12336.1	19																																																																																			CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II	ENSG00000186115		0.592	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	-	0	69	0	G	NM_001082		15990453	-1	tier1	-	no_errors	ENST00000221700	ensembl	human	known	74_37	silent	44.68	26	21	SNP	0.915	A	A	15990453	G	A	15990453	2	1	97	1	0	0	0	0	0	0	0	1	4197	1049	37	1		1	CYP4F2	19	15990453	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	700765	15990453	43138530	346	27958											
CYP4F2	8529	genome.wustl.edu	37	chr19	16001157	16001157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagctgaagacacatttCtgtagactgtccaaggtcat	13	11	8	9	0	3	3	2	1	1	2	4	3	4	3	1	1	1	2	1	1	4	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:16001157C>A	ENST00000221700.6	-	6	707	c.612G>T	c.(610-612)caG>caT	p.Q204H	CYP4F2_ENST00000011989.7_Missense_Mutation_p.Q55H	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGACACATTTCTGTAGACTGT	0.532																																																	0													120	110	113					19																	16001157		2203	4300	6503	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.612G>T	19.37:g.16001157C>A	ENSP00000221700:p.Gln204His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.Q204H	ENST00000221700.6	37	c.612	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	c	9.370	1.070286	0.20147	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.68181	-0.31;1.58	3.07	1.99	0.26369	.	0.121018	0.33161	U	0.005207	T	0.75177	0.3814	M	0.73598	2.24	0.25887	N	0.983522	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.971	T	0.64045	-0.6499	10	0.87932	D	0	.	3.9859	0.09516	0.2303:0.6369:0.0:0.1328	.	55;204	B4DV75;P78329	.;CP4F2_HUMAN	H	204;55;55	ENSP00000221700:Q204H;ENSP00000011989:Q55H	ENSP00000011989:Q55H	Q	-	3	2	CYP4F2	15862157	0.965000	0.33210	1.000000	0.80357	0.606000	0.37113	0.004000	0.13106	0.590000	0.29694	0.195000	0.17529	CAG	CYP4F2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II	ENSG00000186115		0.532	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	HGNC	protein_coding	OTTHUMT00000460372.3	-	0	70	0	C	NM_001082		16001157	-1	tier1	-	no_errors	ENST00000221700	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A	A	16001157	C	A	16001157	3	1	97	1	0	0	0	0	1	0	0	0	4197	912	32	3	982	3	CYP4F2	19	16001157	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	10704	16001157	43127826	347	27959											
ZNF43	7594	genome.wustl.edu	37	chr19	21990665	21990665	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctccagtatgaattttcTtatgttcaataaggtttgag	10	17	8	6	0	3	2	1	2	2	0	4	2	3	2	1	1	0	4	1	1	5	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:21990665T>G	ENST00000354959.4	-	4	2343	c.2174A>C	c.(2173-2175)aAg>aCg	p.K725T	ZNF43_ENST00000598381.1_Missense_Mutation_p.K719T|ZNF43_ENST00000594012.1_Missense_Mutation_p.K719T|ZNF43_ENST00000595461.1_Missense_Mutation_p.K719T	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	725					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGAATTTTCTTATGTTCAAT	0.343																																																	0													57	61	60					19																	21990665		2202	4299	6501	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2174A>C	19.37:g.21990665T>G	ENSP00000347045:p.Lys725Thr		A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K725T	ENST00000354959.4	37	c.2174	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	T	11.33	1.608092	0.28623	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.51817	0.69	1.76	0.534	0.17127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48786	0.1519	L	0.39514	1.22	0.21802	N	0.99954	D	0.60160	0.987	P	0.62089	0.898	T	0.35276	-0.9795	9	0.72032	D	0.01	.	2.1576	0.03816	0.2548:0.1649:0.0:0.5803	.	725	P17038	ZNF43_HUMAN	T	724;725	ENSP00000347045:K725T	ENSP00000347045:K725T	K	-	2	0	ZNF43	21782505	0.000000	0.05858	0.001000	0.08648	0.808000	0.45660	-0.583000	0.05807	-0.062000	0.13088	0.254000	0.18369	AAG	ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198521		0.343	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	-	0	26	0	T	NM_003423		21990665	-1	tier1	-	no_errors	ENST00000354959	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.682	G	G	21990665	T	G	21990665	3	3	97	1	0	0	0	0	1	0	0	0	17951	1609	56	4	259	4	ZNF43	19	21990665	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	5989508	21990665	37138318	348	27960											
ZNF607	84775	genome.wustl.edu	37	chr19	38189849	38189849	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcccacatttgttacAttcatagggtttcttaccac	9	15	6	11	0	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	3	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:38189849A>G	ENST00000355202.4	-	5	1778	c.1183T>C	c.(1183-1185)Tgt>Cgt	p.C395R	ZNF607_ENST00000395835.3_Missense_Mutation_p.C394R|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CATTTGTTACATTCATAGGGT	0.393																																																	0													85	85	85					19																	38189849		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"Zinc fingers, C2H2-type", "-"	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1183T>C	19.37:g.38189849A>G	ENSP00000347338:p.Cys395Arg		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C395R	ENST00000355202.4	37	c.1183	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	A	14.56	2.572512	0.45798	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	D;D	0.85258	-1.96;-1.96	1.77	1.77	0.24775	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94155	0.8125	H	0.98238	4.18	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92984	0.6409	9	0.87932	D	0	.	8.3384	0.32228	1.0:0.0:0.0:0.0	.	395;394	Q96SK3;F5H141	ZN607_HUMAN;.	R	395;394	ENSP00000347338:C395R;ENSP00000438015:C394R	ENSP00000347338:C395R	C	-	1	0	ZNF607	42881689	0.996000	0.38824	0.142000	0.22268	0.768000	0.43524	5.717000	0.68446	0.803000	0.34113	0.459000	0.35465	TGT	ZNF607	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.393	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2		0	69	0	A	NM_032689		38189849	-1			no_errors	ENST00000355202	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.835	G	G	38189849	A	G	38189849	3	3	97	1	0	0	0	0	1	0	0	0	18081	217	8	4	911	4	ZNF607	19	38189849	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	16199184	38189849	20939134	349	27961											
SARS2	54938	genome.wustl.edu	37	chr19	39408448	39408448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctctgctccagcccaGggcctgtcaccccaaacatc	8	7	9	17	0	2	1	1	1	1	0	4	1	3	1	5	1	4	2	5	1	1	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:39408448G>T	ENST00000221431.6	-	12	1235	c.1076C>A	c.(1075-1077)cCt>cAt	p.P359H	SARS2_ENST00000600042.1_Missense_Mutation_p.P361H|CTC-360G5.8_ENST00000599996.1_Silent_p.P428P|SARS2_ENST00000594171.1_Missense_Mutation_p.P169H|SARS2_ENST00000448145.2_Missense_Mutation_p.P359H|SARS2_ENST00000430193.3_Missense_Mutation_p.P359H|SARS2_ENST00000598831.1_Missense_Mutation_p.P7H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	359					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCAGCCCAGGGCCTGTCAC	0.632																																																	0													60	55	57					19																	39408448		2203	4300	6503	SO:0001583	missense	0			AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"Aminoacyl tRNA synthetases / Class II"	17697	protein-coding gene	gene with protein product	"serine tRNA ligase 2, mitochondrial"	612804	"serine-tRNA ligase, mitochondrial", "seryl-tRNA synthetase 2"	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1076C>A	19.37:g.39408448G>T	ENSP00000221431:p.Pro359His		A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	p.P361H	ENST00000221431.6	37	c.1082	CCDS33017.1	19	.	.	.	.	.	.	.	.	.	.	g	15.35	2.806474	0.50421	.	.	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000448145	T;T	0.72505	-0.66;-0.66	4.87	4.87	0.63330	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.124736	0.52532	D	0.000073	D	0.83977	0.5371	M	0.92880	3.355	.	.	.	D;D;D;P	0.58268	0.982;0.977;0.982;0.829	P;P;P;P	0.57776	0.827;0.731;0.827;0.64	D	0.90474	0.4455	9	0.87932	D	0	.	10.7274	0.46077	0.0:0.0:0.6914:0.3086	.	359;361;359;359	E7EX87;B4DE10;B4DXB9;Q9NP81	.;.;.;SYSM_HUMAN	H	361;359;359	ENSP00000221431:P359H;ENSP00000399330:P359H	ENSP00000221431:P359H	P	-	2	0	FBXO17	44100288	0.836000	0.29430	0.951000	0.38953	0.476000	0.33039	3.205000	0.51090	2.258000	0.74832	0.479000	0.44913	CCT	SARS2	-	pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1	ENSG00000104835		0.632	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SARS2	HGNC	protein_coding	OTTHUMT00000463139.1		0	33	0	G	NM_017827		39408448	-1			no_errors	ENST00000600042	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.349	T	T	39408448	G	T	39408448	3	4	97	1	0	0	0	0	1	0	0	0	13890	1000	35	3	500	3	SARS2	19	39408448	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1218599	39408448	19720535	350	27962											
FBL	2091	genome.wustl.edu	37	chr19	40329803	40329803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctagcttggagcGgaaggggttccaggctcggt	5	10	17	9	2	0	0	0	0	0	0	2	2	1	2	1	6	5	6	1	6	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:40329803G>T	ENST00000221801.3	-	5	534	c.421C>A	c.(421-423)Cgc>Agc	p.R141S	FBL_ENST00000593503.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	141					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		AGCTTGGAGCGGAAGGGGTTC	0.577																																																	0													133	121	125					19																	40329803		2203	4300	6503	SO:0001583	missense	0			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.421C>A	19.37:g.40329803G>T	ENSP00000221801:p.Arg141Ser		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.R141S	ENST00000221801.3	37	c.421	CCDS12545.1	19	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872711	0.72180	.	.	ENSG00000105202	ENST00000221801	.	.	.	5.05	4.02	0.46733	.	0.050578	0.85682	D	0.000000	D	0.85957	0.5818	H	0.98178	4.165	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;D;D	0.81914	0.971;0.951;0.995	D	0.86207	0.1622	9	0.87932	D	0	-3.7899	6.4786	0.22049	0.0925:0.0:0.7284:0.179	.	141;80;141	B4DLD4;Q96BS4;P22087	.;.;FBRL_HUMAN	S	141	.	ENSP00000221801:R141S	R	-	1	0	FBL	45021643	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.810000	0.62598	1.143000	0.42306	0.561000	0.74099	CGC	FBL	-	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	ENSG00000105202		0.577	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBL	HGNC	protein_coding	OTTHUMT00000462509.4		0	69	0	G	NM_001436		40329803	-1			no_errors	ENST00000221801	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T	T	40329803	G	T	40329803	3	4	97	1	0	0	0	0	1	0	0	0	5718	1116	39	2	564	2	FBL	19	40329803	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	921355	40329803	18799180	351	27963											
ATP5SL	55101	genome.wustl.edu	37	chr19	41939249	41939249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcgagagctcctgcaacGagtcggccagtgggtagagg	9	5	16	11	3	0	2	0	0	0	2	2	4	1	2	3	3	4	3	3	3	2	1	rs200495447		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:41939249G>A	ENST00000221943.9	-	5	529	c.524C>T	c.(523-525)tCg>tTg	p.S175L	ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000592922.2_Missense_Mutation_p.S148L|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000417807.3_Missense_Mutation_p.S181L|ATP5SL_ENST00000590641.2_Missense_Mutation_p.S154L|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000595425.1_Missense_Mutation_p.S148L	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	175						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						CTCCTGCAACGAGTCGGCCAG	0.682																																																	0													36	40	39					19																	41939249		2203	4299	6502	SO:0001583	missense	0			AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.524C>T	19.37:g.41939249G>A	ENSP00000221943:p.Ser175Leu		B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Missense_Mutation	SNP	NULL	p.S181L	ENST00000221943.9	37	c.542	CCDS33032.1	19	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494592	0.44352	.	.	ENSG00000105341	ENST00000221943;ENST00000438807;ENST00000417807;ENST00000507129	T;T	0.40476	1.03;1.03	4.43	3.31	0.37934	.	0.000000	0.64402	D	0.000003	T	0.60025	0.2237	M	0.76433	2.335	0.09310	N	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	P;D;D;D	0.67900	0.805;0.954;0.951;0.951	T	0.50857	-0.8778	10	0.66056	D	0.02	-12.1092	12.0516	0.53509	0.0:0.1753:0.8247:0.0	.	154;148;175;181	B4DFT4;E9PDC6;Q9NW81;F5H4W7	.;.;AT5SL_HUMAN;.	L	175;148;181;251	ENSP00000221943:S175L;ENSP00000403910:S181L	ENSP00000221943:S175L	S	-	2	0	ATP5SL	46631089	0.140000	0.22579	0.046000	0.18839	0.247000	0.25773	1.698000	0.37794	2.448000	0.82819	0.563000	0.77884	TCG	ATP5SL	-	NULL	ENSG00000105341		0.682	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5SL	HGNC	protein_coding	OTTHUMT00000460602.1	-	0	77	0	G	NM_018035		41939249	-1	tier1	rs200495447	no_errors	ENST00000417807	ensembl	human	known	74_37	missense	6.52	86	6	SNP	0.012	A	A	41939249	G	A	41939249	3	1	97	1	0	0	0	0	1	0	0	0	1165	1059	37	1	257	1	ATP5SL	19	41939249	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1609446	41939249	17189734	352	27964											
MEGF8	1954	genome.wustl.edu	37	chr19	42872627	42872627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgagcccttcctacctGcccctgcgatgtatggccgg	4	11	11	15	2	1	1	0	1	1	0	2	2	2	1	6	2	4	1	6	2	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:42872627G>T	ENST00000251268.6	+	36	6294	c.6294G>T	c.(6292-6294)ctG>ctT	p.L2098L	MEGF8_ENST00000334370.4_Silent_p.L2031L|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2098	PSI 6.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTTCCTACCTGCCCCTGCGAT	0.602																																																	0													9	10	10					19																	42872627		2118	4172	6290	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6294G>T	19.37:g.42872627G>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.L2098	ENST00000251268.6	37	c.6294		19																																																																																			MEGF8	-	smart_Plexin-like_fold	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0	33	0	G	NM_001410		42872627	1			no_errors	ENST00000251268	ensembl	human	known	74_37	silent	10.81	33	4	SNP	1.000	T	T	42872627	G	T	42872627	2	4	97	1	0	0	0	0	0	0	0	1	9501	1306	46	3		3	MEGF8	19	42872627	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	933378	42872627	16256356	353	27965											
CABP5	56344	genome.wustl.edu	37	chr19	48547157	48547157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcctcaagaagatgcagGcggggcccatggggaactgc	9	7	14	11	1	1	2	1	0	0	2	2	3	2	3	2	5	3	1	2	5	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:48547157G>T	ENST00000293255.2	-	1	153	c.23C>A	c.(22-24)gCc>gAc	p.A8D		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	8					signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GAAGATGCAGGCGGGGCCCAT	0.662																																																	0													38	38	38					19																	48547157		2203	4300	6503	SO:0001583	missense	0			AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"EF-hand domain containing"	13714	protein-coding gene	gene with protein product		607315	"calcium binding protein 3"	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.23C>A	19.37:g.48547157G>T	ENSP00000293255:p.Ala8Asp		A0AUY4	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A8D	ENST00000293255.2	37	c.23	CCDS12709.1	19	.	.	.	.	.	.	.	.	.	.	g	16.98	3.270258	0.59540	.	.	ENSG00000105507	ENST00000293255	T	0.73363	-0.74	4.94	3.89	0.44902	.	0.063358	0.64402	D	0.000008	T	0.74215	0.3687	L	0.36672	1.1	0.38060	D	0.936056	P	0.49358	0.923	P	0.53988	0.739	T	0.78732	-0.2089	10	0.87932	D	0	-16.4147	11.7509	0.51847	0.0:0.1778:0.8222:0.0	.	8	Q9NP86	CABP5_HUMAN	D	8	ENSP00000293255:A8D	ENSP00000293255:A8D	A	-	2	0	CABP5	53238969	1.000000	0.71417	0.985000	0.45067	0.921000	0.55340	7.659000	0.83766	1.232000	0.43678	-0.254000	0.11334	GCC	CABP5	-	NULL	ENSG00000105507		0.662	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP5	HGNC	protein_coding	OTTHUMT00000465212.1	-	0	56	0	G	NM_019855		48547157	-1	tier1	-	no_errors	ENST00000293255	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T	T	48547157	G	T	48547157	3	4	97	1	0	0	0	0	1	0	0	0	2541	1203	42	3	522	3	CABP5	19	48547157	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5674530	48547157	10581826	354	27966											
PLEKHA4	57664	genome.wustl.edu	37	chr19	49362117	49362117	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcacctctctgctcacCtgtgttctgggctcctgact	3	15	7	16	0	4	1	2	1	3	0	7	1	5	1	3	1	1	3	3	1	0	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:49362117C>A	ENST00000263265.6	-	8	1527	c.972G>T	c.(970-972)caG>caT	p.Q324H	PLEKHA4_ENST00000596713.1_Intron|PLEKHA4_ENST00000355496.5_Splice_Site_p.Q324H	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	324	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCTGCTCACCTGTGTTCTGG	0.622																																																	0													101	107	105					19																	49362117		2180	4236	6416	SO:0001630	splice_region_variant	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"Pleckstrin homology (PH) domain containing"	14339	protein-coding gene	gene with protein product		607769	"pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.972+1G>T	19.37:g.49362117C>A			Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q324H	ENST00000263265.6	37	c.972	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741290	0.69304	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15256	3.14;2.44	5.21	5.21	0.72293	.	1.667350	0.03559	N	0.226730	T	0.18718	0.0449	N	0.19112	0.55	0.22911	N	0.998574	P;P	0.38642	0.545;0.641	B;B	0.41236	0.351;0.259	T	0.36866	-0.9730	9	.	.	.	.	14.6345	0.68678	0.0:1.0:0.0:0.0	.	324;324	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	H	324	ENSP00000263265:Q324H;ENSP00000347683:Q324H	.	Q	-	3	2	PLEKHA4	54053929	0.998000	0.40836	0.994000	0.49952	0.985000	0.73830	1.743000	0.38258	2.618000	0.88619	0.462000	0.41574	CAG	PLEKHA4	-	NULL	ENSG00000105559		0.622	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1		0	69	0	C		Missense_Mutation	49362117	-1			no_errors	ENST00000263265	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.993	A	A	49362117	C	A	49362117	5	1	97	1	0	0	0	0	0	0	1	0	12097	695	24	3	1419	3	PLEKHA4	19	49362117	Splice_Site	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	814960	49362117	9766866	355	27967											
HRC	3270	genome.wustl.edu	37	chr19	49658061	49658061	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcctgtgctcagctGagtcttccgtgtcttcactc	3	14	12	12	1	4	1	2	1	2	0	6	1	5	1	2	2	3	2	2	2	0	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:49658061G>T	ENST00000252825.4	-	1	620	c.434C>A	c.(433-435)tCa>tAa	p.S145*	HRC_ENST00000595625.1_Nonsense_Mutation_p.S145*|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	145	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTGCTCAGCTGAGTCTTCCGT	0.582																																					Melanoma(37;75 1097 24567 25669 30645)												0													189	135	153					19																	49658061		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"histidine-rich calcium-binding protein"			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.434C>A	19.37:g.49658061G>T	ENSP00000252825:p.Ser145*		Q504Y6	Nonsense_Mutation	SNP	pfam_Hist_rich_Ca-bd	p.S145*	ENST00000252825.4	37	c.434	CCDS12759.1	19	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196705	0.79015	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	.	.	.	2.45	1.41	0.22369	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0298	3.5347	0.07790	0.1579:0.2702:0.5719:0.0	.	.	.	.	X	145;115	.	ENSP00000252825:S145X	S	-	2	0	HRC	54349873	0.014000	0.17966	0.005000	0.12908	0.030000	0.12068	1.074000	0.30703	0.588000	0.29660	0.462000	0.41574	TCA	HRC	-	NULL	ENSG00000130528		0.582	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRC	HGNC	protein_coding	OTTHUMT00000465649.1		0	19	0	G	NM_002152		49658061	-1			no_errors	ENST00000252825	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	0.002	T	T	49658061	G	T	49658061	4	4	97	1	0	0	0	0	0	1	0	0	7379	1294	45	3	1689	3	HRC	19	49658061	Nonsense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	295944	49658061	9470922	356	27968											
TSKS	60385	genome.wustl.edu	37	chr19	50245277	50245277	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagacaactgcgacccctgGctgggggaggggcggtcacc	7	5	17	12	2	1	1	1	0	0	1	1	3	1	2	3	6	2	2	3	6	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:50245277G>T	ENST00000246801.3	-	9	1444	c.1362C>A	c.(1360-1362)agC>agA	p.S454R	TSKS_ENST00000358830.3_Splice_Site_p.S254R	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	454					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCGACCCCTGGCTGGGGGAGG	0.632																																																	0													42	39	40					19																	50245277		2203	4300	6503	SO:0001630	splice_region_variant	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1362-1C>A	19.37:g.50245277G>T			Q8WXJ0	Missense_Mutation	SNP	NULL	p.S454R	ENST00000246801.3	37	c.1362	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804635	0.50315	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.30981	1.51;1.51	4.42	4.42	0.53409	.	0.091095	0.48767	D	0.000166	T	0.41858	0.1177	L	0.29908	0.895	0.36387	D	0.862292	D	0.69078	0.997	D	0.78314	0.991	T	0.51140	-0.8743	10	0.72032	D	0.01	.	12.7692	0.57410	0.0:0.0:1.0:0.0	.	454	Q9UJT2	TSKS_HUMAN	R	454;254	ENSP00000246801:S454R;ENSP00000351691:S254R	ENSP00000246801:S454R	S	-	3	2	TSKS	54937089	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.333000	0.59285	2.464000	0.83262	0.556000	0.70494	AGC	TSKS	-	NULL	ENSG00000126467		0.632	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1		0	41	0	G	NM_021733	Missense_Mutation	50245277	-1			no_errors	ENST00000246801	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	50245277	G	T	50245277	5	4	97	1	0	0	0	0	0	0	1	0	16674	1217	42	3	428	3	TSKS	19	50245277	Splice_Site	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	587216	50245277	8883706	357	27969											
C19orf63	284361	genome.wustl.edu	37	chr19	50985172	50985172	+	Intron	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccctgcgtcctgctgcgCcagggcccgcgccaccgcca	4	4	12	21	5	0	0	0	0	0	0	1	0	1	0	7	1	4	1	7	1	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:50985172C>T	ENST00000334976.6	+	7	724				EMC10_ENST00000376918.3_Missense_Mutation_p.P245S|EMC10_ENST00000598585.1_Intron|CTD-2545M3.2_ENST00000598194.1_RNA	NM_206538.2	NP_996261.1	Q5UCC4	EMC10_HUMAN	ER membrane protein complex subunit 10							ER membrane protein complex (GO:0072546)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)											TCCTGCTGCGCCAGGGCCCGC	0.726																																																	0													8	11	10					19																	50985172		2116	4191	6307	SO:0001627	intron_variant	0			BC062607	CCDS12796.1, CCDS42594.1	19q13.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000161671	ENSG00000161671			27609	protein-coding gene	gene with protein product	"hematopoietic signal peptide-containing secreted 1", "hematopoietic signal peptide-containing membrane domain-containing 1"	614545	"chromosome 19 open reading frame 63"	C19orf63		12975309, 22119785	Standard	NM_175063		Approved	INM02, HSS1, HSM1	uc002psl.3	Q5UCC4		ENST00000334976.6:c.679-234C>T	19.37:g.50985172C>T			Q5UCC6|Q69YT5|Q6UWP3|Q86YL4|Q8N541	Missense_Mutation	SNP	NULL	p.P245S	ENST00000334976.6	37	c.733	CCDS12796.1	19	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577933	0.45902	.	.	ENSG00000161671	ENST00000376918	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	T	0.28167	0.0695	.	.	.	0.33987	D	0.648726	B	0.32573	0.376	B	0.28784	0.094	T	0.33317	-0.9873	7	0.19590	T	0.45	.	8.5171	0.33253	0.0:0.7603:0.2397:0.0	.	245	Q5UCC4-2	.	S	245	.	ENSP00000366117:P245S	P	+	1	0	C19orf63	55676984	0.996000	0.38824	1.000000	0.80357	0.739000	0.42172	3.934000	0.56553	1.810000	0.52873	0.484000	0.47621	CCA	EMC10	-	NULL	ENSG00000161671		0.726	EMC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC10	HGNC	protein_coding	OTTHUMT00000464760.2	-	0	24	0	C	NM_175063		50985172	1	tier1	-	no_errors	ENST00000376918	ensembl	human	known	74_37	missense	18.42	31	7	SNP	0.985	T	T	50985172	C	T	50985172	1	4	97	0	1	0	0	0	0	0	0	0	1952	739	26	3		3	C19orf63	19	50985172	Intron	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	739895	50985172	8143811	358	27970											
ZNF677	342926	genome.wustl.edu	37	chr19	53741574	53741574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtattgaggatttattatGttgttgatcttttctgtgag	8	21	10	2	0	2	3	0	3	2	0	2	4	2	4	0	1	0	3	0	1	3	9			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:53741574G>T	ENST00000598513.1	-	5	556	c.406C>A	c.(406-408)Cat>Aat	p.H136N	ZNF677_ENST00000333952.4_Missense_Mutation_p.H136N|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GATTTATTATGTTGTTGATCT	0.338																																																	0													152	145	148					19																	53741574		2203	4300	6503	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.406C>A	19.37:g.53741574G>T	ENSP00000469391:p.His136Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H136N	ENST00000598513.1	37	c.406	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	0	-2.707882	0.00096	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07021	3.23	1.78	0.733	0.18289	.	0.753644	0.10906	N	0.621080	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.24186	0.099	B	0.21151	0.033	T	0.44711	-0.9310	10	0.25106	T	0.35	.	2.375	0.04339	0.1839:0.0:0.5204:0.2957	.	136	Q86XU0	ZN677_HUMAN	N	136	ENSP00000334394:H136N	ENSP00000334394:H136N	H	-	1	0	ZNF677	58433386	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.226000	0.09139	0.320000	0.23234	0.609000	0.83330	CAT	ZNF677	-	NULL	ENSG00000197928		0.338	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0	51	0	G	NM_182609		53741574	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	6.45	57	4	SNP	0.001	T	T	53741574	G	T	53741574	3	4	97	1	0	0	0	0	1	0	0	0	18132	1377	48	3	1352	3	ZNF677	19	53741574	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2756402	53741574	5387409	359	27971											
C19orf51	352909	genome.wustl.edu	37	chr19	55673609	55673609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgaaggcggccactggCgggcgcagcagcgcgttccc	6	3	16	16	7	0	0	0	0	0	0	1	1	1	0	2	4	2	4	2	4	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:55673609C>T	ENST00000524407.2	-	5	405	c.372G>A	c.(370-372)ccG>ccA	p.P124P	DNAAF3_ENST00000527223.2_Silent_p.P192P|DNAAF3_ENST00000391720.4_Silent_p.P171P|DNAAF3_ENST00000455045.1_Silent_p.P70P|CTD-2587H24.5_ENST00000591665.1_RNA|CTD-2587H24.4_ENST00000587871.1_5'Flank|DNAAF3_ENST00000587789.2_5'Flank			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	124					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CGGCCACTGGCGGGCGCAGCA	0.687																																																	0													4	8	7					19																	55673609		1733	3686	5419	SO:0001819	synonymous_variant	0			AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"chromosome 19 open reading frame 51", "ciliary dyskinesia, primary 2"	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.372G>A	19.37:g.55673609C>T			A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Silent	SNP	NULL	p.P192	ENST00000524407.2	37	c.576	CCDS59422.1	19																																																																																			DNAAF3	-	NULL	ENSG00000167646		0.687	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DNAAF3	HGNC	protein_coding	OTTHUMT00000250388.5	-	0	23	0	C	NM_178837		55673609	-1	tier1	-	no_errors	ENST00000527223	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.046	T	T	55673609	C	T	55673609	2	4	97	1	0	0	0	0	0	0	0	1	1940	755	27	1		1	C19orf51	19	55673609	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	1932035	55673609	3455374	360	27972											
USP29	57663	genome.wustl.edu	37	chr19	57641629	57641629	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgaagaataacgagcaagTttatattcccaaatctttaa	16	12	7	6	1	1	2	0	1	1	1	2	3	2	2	1	1	2	2	1	1	8	7			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr19:57641629T>G	ENST00000254181.4	+	4	2040	c.1586T>G	c.(1585-1587)gTt>gGt	p.V529G	USP29_ENST00000598197.1_Missense_Mutation_p.V529G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	529	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACGAGCAAGTTTATATTCCC	0.413																																																	0													128	135	133					19																	57641629		2203	4300	6503	SO:0001583	missense	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"Ubiquitin-specific peptidases"	18563	protein-coding gene	gene with protein product		609546	"ubiquitin specific protease 29"			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1586T>G	19.37:g.57641629T>G	ENSP00000254181:p.Val529Gly			Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.V529G	ENST00000254181.4	37	c.1586	CCDS33124.1	19	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699951	0.30142	.	.	ENSG00000131864	ENST00000254181	T	0.80909	-1.43	2.52	2.52	0.30459	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.533626	0.13474	U	0.385216	D	0.87561	0.6208	M	0.82056	2.57	0.51233	D	0.999919	D	0.64830	0.994	D	0.64410	0.925	D	0.86901	0.2054	10	0.87932	D	0	-15.7846	8.878	0.35356	0.0:0.0:0.0:1.0	.	529	Q9HBJ7	UBP29_HUMAN	G	529	ENSP00000254181:V529G	ENSP00000254181:V529G	V	+	2	0	USP29	62333441	1.000000	0.71417	0.008000	0.14137	0.196000	0.23810	4.578000	0.60929	1.372000	0.46190	0.383000	0.25322	GTT	USP29	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000131864		0.413	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1	-	0	39	0	T			57641629	1	tier1	-	no_errors	ENST00000254181	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.992	G	G	57641629	T	G	57641629	3	3	97	1	0	0	0	0	1	0	0	0	17108	1725	60	4	1588	4	USP29	19	57641629	Missense_Mutation	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	1968020	57641629	1487354	361	27973											
STK35	140901	genome.wustl.edu	37	chr20	2097325	2097325	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttaggagaaaggatcctGggttatgctgaggagccctg	10	10	15	6	0	0	2	0	1	0	1	1	6	1	4	2	4	2	2	2	4	3	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:2097325G>T	ENST00000381482.3	+	3	1177	c.906G>T	c.(904-906)ctG>ctT	p.L302L	STK35_ENST00000246032.3_Silent_p.L169L|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			YLRLVETSLKGERILGYAEE -> GNGEGRRPQRYTKPGAE KAK (in Ref. 4; AAI11574). {ECO:0000305}.		cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AAAGGATCCTGGGTTATGCTG	0.478																																																	0													173	165	168					20																	2097325		2203	4300	6503	SO:0001819	synonymous_variant	0			AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"CLP-36 interacting kinase"	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.906G>T	20.37:g.2097325G>T			B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L302	ENST00000381482.3	37	c.906	CCDS13024.2	20																																																																																			STK35	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000125834		0.478	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK35	HGNC	protein_coding	OTTHUMT00000077574.3	-	0	35	0	G	NM_080836		2097325	1	tier1	-	no_errors	ENST00000381482	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	T	T	2097325	G	T	2097325	2	4	97	1	0	0	0	0	0	0	0	1	15348	1335	47	3		3	STK35	20	2097325	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		2097325	60928195	362	27974											
PAK7	57144	genome.wustl.edu	37	chr20	9561251	9561251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatagtaggcctccccGtgcttcattttcattacgtg	8	14	8	11	2	3	1	3	0	0	1	4	1	4	1	3	1	2	2	3	1	4	6			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:9561251G>T	ENST00000378429.3	-	5	1077	c.531C>A	c.(529-531)caC>caA	p.H177Q	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.H177Q|PAK7_ENST00000378423.1_Missense_Mutation_p.H177Q	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	177	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H177H(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGCCTCCCCGTGCTTCATTT	0.458																																																	1	Substitution - coding silent(1)	large_intestine(1)											141	136	137					20																	9561251		2203	4300	6503	SO:0001583	missense	0			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"p21(CDKN1A)-activated kinase 7"			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.531C>A	20.37:g.9561251G>T	ENSP00000367686:p.His177Gln		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.H177Q	ENST00000378429.3	37	c.531	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	G	0.687	-0.796140	0.02862	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.40476	1.03;1.03;1.03	5.55	-4.84	0.03151	.	0.669515	0.16349	N	0.218320	T	0.21347	0.0514	N	0.22421	0.69	0.09310	N	0.999996	B;B	0.21309	0.054;0.054	B;B	0.21708	0.036;0.036	T	0.22068	-1.0227	9	.	.	.	.	8.3065	0.32045	0.4544:0.0972:0.4485:0.0	.	177;177	B0AZM9;Q9P286	.;PAK7_HUMAN	Q	177;177;177;125	ENSP00000367686:H177Q;ENSP00000322957:H177Q;ENSP00000367679:H177Q	.	H	-	3	2	PAK7	9509251	0.000000	0.05858	0.303000	0.25071	0.354000	0.29330	-1.310000	0.02725	-0.498000	0.06632	-0.277000	0.10078	CAC	PAK7	-	NULL	ENSG00000101349		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	-	0	44	0	G			9561251	-1	tier1	-	no_errors	ENST00000353224	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.301	T	T	9561251	G	T	9561251	3	4	97	1	0	0	0	0	1	0	0	0	11444	1136	40	2	1656	2	PAK7	20	9561251	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7463926	9561251	53464269	363	27975											
MACROD2	140733	genome.wustl.edu	37	chr20	15967782	15967782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccattaacagaggaccaaGaagaaaaagaaggtgaaaaa	22	5	9	5	0	0	5	0	1	0	4	1	6	1	6	2	2	1	0	2	2	8	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:15967782G>C	ENST00000310348.4	+	15	1132	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	MACROD2_ENST00000407045.3_Missense_Mutation_p.E29Q|MACROD2_ENST00000378058.3_Missense_Mutation_p.E143Q|MACROD2_ENST00000217246.4_Missense_Mutation_p.E378Q|MACROD2_ENST00000402914.1_Missense_Mutation_p.E143Q			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	378	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAGGACCAAGAAGAAAAAGA	0.388																																																	0													117	114	115					20																	15967782		2203	4300	6503	SO:0001583	missense	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"chromosome 20 open reading frame 133"	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1132G>C	20.37:g.15967782G>C	ENSP00000309809:p.Glu378Gln		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.E378Q	ENST00000310348.4	37	c.1132	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430375	0.43122	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.55588	1.97;1.96;0.51;0.51	5.57	4.62	0.57501	.	0.127302	0.36066	N	0.002817	T	0.59582	0.2204	L	0.50333	1.59	0.24784	N	0.992792	D;P;P	0.61080	0.989;0.745;0.739	P;B;B	0.55923	0.787;0.224;0.398	T	0.55528	-0.8127	10	0.66056	D	0.02	-10.261	11.8854	0.52600	0.0829:0.0:0.9171:0.0	.	29;378;378	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	Q	378;378;143;143;29	ENSP00000217246:E378Q;ENSP00000309809:E378Q;ENSP00000385290:E143Q;ENSP00000367297:E143Q	ENSP00000217246:E378Q	E	+	1	0	MACROD2	15915782	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	2.749000	0.47492	1.354000	0.45846	0.591000	0.81541	GAA	MACROD2	-	NULL	ENSG00000172264		0.388	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	0	38	0	G	NM_080676		15967782	1	tier1	-	no_errors	ENST00000310348	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C	C	15967782	G	C	15967782	3	2	97	1	0	0	0	0	1	0	0	0	9182	943	33	5	1190	5	MACROD2	20	15967782	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	6406531	15967782	47057738	364	27976											
PLK1S1	101929591	genome.wustl.edu	37	chr20	21195194	21195194	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcattattgagaaaaGcccttacagaagagtgtggc	15	8	10	8	0	0	3	0	1	0	3	0	4	0	3	1	1	4	1	1	1	6	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:21195194G>T	ENST00000591761.1	-	0	119				RP4-777D9.2_ENST00000443753.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA|PLK1S1_ENST00000457464.1_RNA																							ATTGAGAAAAGCCCTTACAGA	0.398																																																	0													63	61	61					20																	21195194		1852	4097	5949			0																															20.37:g.21195194G>T				RNA	SNP	-	NULL	ENST00000591761.1	37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970		0.398	RP4-777D9.2-002	KNOWN	basic	antisense	PLK1S1	HGNC	antisense	OTTHUMT00000078258.2	-	0	65	0	G			21195194	1	tier1	-	no_errors	ENST00000246027	ensembl	human	known	74_37	rna	6.56	57	4	SNP	0.338	T	T	21195194	G	T	21195194	1	4	97	0	1	0	0	0	0	0	0	0	12134	971	34	3		3	PLK1S1	20	21195194	RNA	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	5227412	21195194	41830326	365	27977											
HM13	81502	genome.wustl.edu	37	chr20	30137095	30137095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaatgtcagcactggctGcatcctgctgggcggactct	8	9	11	13	1	2	0	1	0	1	0	3	1	3	1	1	3	4	4	1	3	2	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:30137095G>T	ENST00000340852.5	+	6	750	c.626G>T	c.(625-627)tGc>tTc	p.C209F	HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_3'UTR|HM13_ENST00000398174.3_Missense_Mutation_p.C209F|HM13_ENST00000335574.5_Missense_Mutation_p.C209F	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	209					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGCACTGGCTGCATCCTGCTG	0.562																																																	0													179	171	173					20																	30137095		2203	4300	6503	SO:0001583	missense	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"signal peptide peptidase beta", "presenilin-like protein 3", "intramembrane protease", "signal peptide peptidase like 1"	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.626G>T	20.37:g.30137095G>T	ENSP00000343032:p.Cys209Phe		B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	p.C209F	ENST00000340852.5	37	c.626	CCDS13182.1	20	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969235	0.53614	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174	T;T;T	0.16597	2.33;2.33;2.33	5.1	5.1	0.69264	.	0.084263	0.85682	D	0.000000	T	0.27205	0.0667	L	0.58428	1.81	0.80722	D	1	P;P;B	0.45531	0.726;0.86;0.057	P;P;B	0.48089	0.566;0.535;0.07	T	0.00807	-1.1558	10	0.27082	T	0.32	-34.4974	17.7521	0.88438	0.0:0.0:1.0:0.0	.	209;209;209	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	F	209	ENSP00000335294:C209F;ENSP00000343032:C209F;ENSP00000381237:C209F	ENSP00000335294:C209F	C	+	2	0	HM13	29600756	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.992000	0.93519	2.661000	0.90470	0.650000	0.86243	TGC	HM13	-	pfam_Peptidase_A22B_SPP,smart_Preselin/SPP	ENSG00000101294		0.562	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	-	0	32	0	G	NM_178580		30137095	1	tier1	-	no_errors	ENST00000398174	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	T	T	30137095	G	T	30137095	3	4	97	1	0	0	0	0	1	0	0	0	7244	1319	46	3	715	3	HM13	20	30137095	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	8941901	30137095	32888425	366	27978											
ASXL1	171023	genome.wustl.edu	37	chr20	31022853	31022853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagattagtggagcagcctCagttgcatccggatgttaga	11	10	13	7	1	1	2	1	0	0	2	2	5	2	4	2	2	3	4	2	2	2	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:31022853C>A	ENST00000375687.4	+	13	2762	c.2338C>A	c.(2338-2340)Cag>Aag	p.Q780K	ASXL1_ENST00000306058.5_Missense_Mutation_p.Q775K	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	780					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q780*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAGCAGCCTCAGTTGCATCC	0.567			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											75	70	72					20																	31022853		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2338C>A	20.37:g.31022853C>A	ENSP00000364839:p.Gln780Lys		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.Q780K	ENST00000375687.4	37	c.2338	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.410400	0.01145	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.19532	2.14;2.14	5.17	-10.3	0.00346	.	2.532820	0.01224	N	0.008197	T	0.05181	0.0138	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23404	-1.0189	10	0.05721	T	0.95	8.6651	10.1287	0.42665	0.2942:0.3274:0.3784:0.0	.	775;780	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	K	780;780;780;701;775	ENSP00000364839:Q780K;ENSP00000305119:Q775K	ENSP00000305119:Q775K	Q	+	1	0	ASXL1	30486514	0.000000	0.05858	0.000000	0.03702	0.726000	0.41606	-1.293000	0.02770	-2.593000	0.00455	-0.266000	0.10368	CAG	ASXL1	-	NULL	ENSG00000171456		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2		0	19	0	C	NM_015338		31022853	1			no_errors	ENST00000375687	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.000	A	A	31022853	C	A	31022853	3	1	97	1	0	0	0	0	1	0	0	0	1067	827	29	3	2394	3	ASXL1	20	31022853	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	885758	31022853	32002667	367	27979											
MMP24	10893	genome.wustl.edu	37	chr20	33842521	33842521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacacccactttgactccGatgagccatggacgctagga	11	7	11	12	2	0	3	0	2	0	1	1	7	1	5	3	2	1	1	3	2	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:33842521G>T	ENST00000246186.6	+	4	866	c.781G>T	c.(781-783)Gat>Tat	p.D261Y	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	261					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CTTTGACTCCGATGAGCCATG	0.567																																																	0													103	105	104					20																	33842521		2201	4300	6501	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"membrane-type 5 matrix metalloproteinase"	604871	"matrix metalloproteinase 24 (membrane-inserted)"			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.781G>T	20.37:g.33842521G>T	ENSP00000246186:p.Asp261Tyr		B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.D261Y	ENST00000246186.6	37	c.781	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662598	0.88251	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.30448	1.53	5.12	5.12	0.69794	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66954	0.2842	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76291	-0.3013	10	0.72032	D	0.01	.	17.729	0.88372	0.0:0.0:1.0:0.0	.	261	Q9Y5R2	MMP24_HUMAN	Y	261;209	ENSP00000246186:D261Y	ENSP00000246186:D261Y	D	+	1	0	MMP24	33305937	1.000000	0.71417	0.971000	0.41717	0.990000	0.78478	9.657000	0.98554	2.653000	0.90120	0.655000	0.94253	GAT	MMP24	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000125966		0.567	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4		0	48	0	G	NM_006690		33842521	1			no_errors	ENST00000246186	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T	T	33842521	G	T	33842521	3	4	97	1	0	0	0	0	1	0	0	0	9699	1058	37	2	545	2	MMP24	20	33842521	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	2819668	33842521	29182999	368	27980											
PTPRT	11122	genome.wustl.edu	37	chr20	40864897	40864897	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtaggaataagcatttcTtctatatattgatgggcagt	12	14	11	4	0	2	1	0	1	2	0	2	3	2	3	0	3	1	3	0	3	6	8			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:40864897T>G	ENST00000373187.1	-	15	2313	c.2314A>C	c.(2314-2316)Aga>Cga	p.R772R	PTPRT_ENST00000373198.4_Splice_Site_p.R791R|PTPRT_ENST00000373201.1_Intron|PTPRT_ENST00000373190.1_Splice_Site_p.R772R|PTPRT_ENST00000356100.2_Intron|PTPRT_ENST00000373184.1_Intron|PTPRT_ENST00000373193.3_Splice_Site_p.R772R			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	772					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAAGCATTTCTTCTATATATT	0.373																																																	0													105	103	104					20																	40864897		1868	4096	5964	SO:0001630	splice_region_variant	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2313-1A>C	20.37:g.40864897T>G			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R791	ENST00000373187.1	37	c.2371	CCDS42874.1	20																																																																																			PTPRT	-	NULL	ENSG00000196090		0.373	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0	52	0	T		Silent	40864897	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	silent	25.84	66	23	SNP	1.000	G	G	40864897	T	G	40864897	5	3	97	1	0	0	0	0	0	0	1	0	12857	1623	56	4	2079	4	PTPRT	20	40864897	Splice_Site	SNP	T	TCGA-L7-A6VZ-01A-12D-A33E-09	7022376	40864897	22160623	369	27981											
NFATC2	4773	genome.wustl.edu	37	chr20	50139887	50139887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgatcacggcagagccaGccacaggggggtacccagcc	10	3	13	15	1	1	2	1	1	0	1	1	2	1	2	5	4	4	2	5	4	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:50139887G>A	ENST00000396009.3	-	2	1112	c.893C>T	c.(892-894)gCt>gTt	p.A298V	NFATC2_ENST00000610033.1_Missense_Mutation_p.A79V|NFATC2_ENST00000414705.1_Missense_Mutation_p.A278V|NFATC2_ENST00000371564.3_Missense_Mutation_p.A298V|NFATC2_ENST00000609507.1_Missense_Mutation_p.A79V|NFATC2_ENST00000609943.1_Missense_Mutation_p.A278V	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	298					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCAGAGCCAGCCACAGGGGG	0.706																																																	0													8	11	10					20																	50139887		2154	4216	6370	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.893C>T	20.37:g.50139887G>A	ENSP00000379330:p.Ala298Val		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.A298V	ENST00000396009.3	37	c.893	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453653	0.26161	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000371567;ENST00000414705	T;T;T	0.14640	2.49;2.49;2.49	5.24	4.29	0.51040	.	0.559829	0.19855	N	0.104548	T	0.12135	0.0295	L	0.34521	1.04	0.29983	N	0.817576	P;P;P;B	0.44627	0.704;0.704;0.839;0.085	B;B;B;B	0.40825	0.197;0.341;0.145;0.009	T	0.03534	-1.1027	10	0.27785	T	0.31	-5.6139	13.8976	0.63783	0.0741:0.0:0.9259:0.0	.	278;278;298;298	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	V	298;298;79;278	ENSP00000360619:A298V;ENSP00000379330:A298V;ENSP00000396471:A278V	ENSP00000360619:A298V	A	-	2	0	NFATC2	49573294	0.360000	0.24964	0.065000	0.19835	0.588000	0.36517	3.264000	0.51553	1.203000	0.43233	0.305000	0.20034	GCT	NFATC2	-	NULL	ENSG00000101096		0.706	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2		0	14	0	G	NM_012340		50139887	-1			no_errors	ENST00000396009	ensembl	human	known	74_37	missense	7.69	24	2	SNP	0.831	A	A	50139887	G	A	50139887	3	1	97	1	0	0	0	0	1	0	0	0	10401	971	34	3	1968	3	NFATC2	20	50139887	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9274990	50139887	12885633	370	27982											
GNAS	2778	genome.wustl.edu	37	chr20	57466893	57466893	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacaagcaggtctacCgggccacgcaccgcctgctg	10	4	13	14	3	1	1	0	0	1	1	1	2	1	2	4	3	3	3	4	3	3	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:57466893C>A	ENST00000371085.3	+	1	536	c.112C>A	c.(112-114)Cgg>Agg	p.R38R	GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000354359.7_Silent_p.R38R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000306090.10_Silent_p.R38R|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Intron|GNAS_ENST00000371095.3_Silent_p.R38R|GNAS_ENST00000371081.1_Silent_p.R38R|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000265620.7_Silent_p.R38R	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	38					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAGGTCTACCGGGCCACGCA	0.716			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	yes	E	0			GRCh37	CD002905	GNAS	D							46	36	40					20																	57466893		2194	4292	6486	SO:0001819	synonymous_variant	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"secretogranin VI"	139320	"guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.112C>A	20.37:g.57466893C>A			A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.R38	ENST00000371085.3	37	c.112	CCDS13472.1	20																																																																																			GNAS	-	pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su	ENSG00000087460		0.716	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2		0	42	0	C	NM_000516		57466893	1			no_errors	ENST00000354359	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.934	A	A	57466893	C	A	57466893	2	1	97	1	0	0	0	0	0	0	0	1	6536	643	23	2		2	GNAS	20	57466893	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	7327006	57466893	5558627	371	27983											
ZNF831	128611	genome.wustl.edu	37	chr20	57766949	57766949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtcacctgggctcccagCggccagcacacaaccctggc	7	4	12	18	2	1	0	1	0	0	0	2	0	2	0	4	4	3	2	4	4	1	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:57766949C>T	ENST00000371030.2	+	1	875	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	292							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCTCCCAGCGGCCAGCACA	0.677																																																	0													44	50	48					20																	57766949		2000	4172	6172	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 174"	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.875C>T	20.37:g.57766949C>T	ENSP00000360069:p.Ala292Val		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A292V	ENST00000371030.2	37	c.875	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	C	1.888	-0.456134	0.04540	.	.	ENSG00000124203	ENST00000371030	T	0.04706	3.57	5.07	-5.53	0.02552	.	.	.	.	.	T	0.01627	0.0052	N	0.02011	-0.69	0.09310	N	1	B	0.18166	0.026	B	0.04013	0.001	T	0.49504	-0.8933	9	0.23302	T	0.38	.	7.9531	0.30027	0.1996:0.5258:0.0:0.2746	.	292	Q5JPB2	ZN831_HUMAN	V	292	ENSP00000360069:A292V	ENSP00000360069:A292V	A	+	2	0	ZNF831	57200344	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.466000	0.06672	-1.038000	0.03279	-0.145000	0.13849	GCG	ZNF831	-	NULL	ENSG00000124203		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2	-	0	59	0	C	NM_178457		57766949	1	tier1	-	no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	15.66	70	13	SNP	0.000	T	T	57766949	C	T	57766949	3	4	97	1	0	0	0	0	1	0	0	0	18233	768	27	1	877	1	ZNF831	20	57766949	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	300056	57766949	5258571	372	27984											
NPBWR2	2832	genome.wustl.edu	37	chr20	62737323	62737323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtggggtctggggcaGgtccgtggtcagggccacga	6	6	19	10	2	2	0	1	0	1	0	3	2	3	0	3	7	0	1	3	7	0	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr20:62737323G>T	ENST00000369768.1	-	1	1201	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	288					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCTGGGGCAGGTCCGTGGTC	0.627																																																	0													143	100	115					20																	62737323		2202	4298	6500	SO:0001583	missense	0			U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"GPCR / Class A : Neuropeptide receptors : W/B"	4530	protein-coding gene	gene with protein product		600731	"G protein-coupled receptor 8"	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.862C>A	20.37:g.62737323G>T	ENSP00000358783:p.Leu288Met		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.L288M	ENST00000369768.1	37	c.862	CCDS13557.1	20	.	.	.	.	.	.	.	.	.	.	G	8.560	0.877447	0.17395	.	.	ENSG00000125522	ENST00000369768	T	0.72725	-0.68	3.43	-4.02	0.04034	GPCR, rhodopsin-like superfamily (1);	0.208574	0.31279	N	0.007938	T	0.59770	0.2218	M	0.76002	2.32	0.37725	D	0.92507	P	0.43231	0.801	B	0.40901	0.343	T	0.56105	-0.8034	10	0.66056	D	0.02	.	1.5665	0.02605	0.1712:0.4007:0.1758:0.2523	.	288	P48146	NPBW2_HUMAN	M	288	ENSP00000358783:L288M	ENSP00000358783:L288M	L	-	1	2	NPBWR2	62207767	0.999000	0.42202	0.006000	0.13384	0.107000	0.19398	0.543000	0.23237	-0.794000	0.04468	0.491000	0.48974	CTG	NPBWR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000125522		0.627	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR2	HGNC	protein_coding	OTTHUMT00000080300.1	-	0	43	0	G	NM_005286		62737323	-1	tier1	-	no_errors	ENST00000369768	ensembl	human	known	74_37	missense	5.00	95	5	SNP	0.982	T	T	62737323	G	T	62737323	3	4	97	1	0	0	0	0	1	0	0	0	10608	991	35	3	142	3	NPBWR2	20	62737323	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	4970374	62737323	288197	373	27985											
TPTE	7179	genome.wustl.edu	37	chr21	10944701	10944702	+	Frame_Shift_Ins	INS	-	-	C																															aagcaacttaatgtcaaaaaINSaaatgtaaacgacatcaacc																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:10944701_10944702insC	ENST00000361285.4	-	11	861_862	c.532_533insG	c.(532-534)tttfs	p.F178fs	TPTE_ENST00000342420.5_Frame_Shift_Ins_p.F140fs|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Frame_Shift_Ins_p.F160fs	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	178					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGTCAAAAAAAATGTAAACG	0.297																																																	0																																										SO:0001589	frameshift_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.532_533insG	21.37:g.10944701_10944702insC	ENSP00000355208:p.Phe178fs		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.F178fs	ENST00000361285.4	37	c.533_532	CCDS13560.2	21																																																																																			TPTE	-	pfam_Ion_trans_dom	ENSG00000166157		0.297	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1		0	211	0	-			10944702	-1	tier1		no_errors	ENST00000361285	ensembl	human	known	74_37	frame_shift_ins	29.46	91	38	INS	0.288:0.231	C	C	10944702	-	C	10944701	7	5	97	1	0	1	1	0	0	0	0	0	16478	14	1	0	1178	0	TPTE	21	10944701	Frame_Shift_Ins	INS	-	TCGA-L7-A6VZ-01A-12D-A33E-09		10944701	37185194	374	27986											
BAGE	85319	genome.wustl.edu	37	chr21	11097578	11097578	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaggctccaacctccaGctcaccacaggggactcctc	8	8	7	18	0	3	0	2	0	1	0	7	1	6	1	5	3	2	2	5	3	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:11097578G>T	ENST00000470054.1	-	0	291							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaacctccagctcaccacag	0.537																																																	0													58	75	69					21																	11097578		1414	2561	3975			0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097578G>T			A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-	ENSG00000187172		0.537	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	-	0	151	0	G	NM_182482		11097578	-1	tier1	-	no_errors	ENST00000470054	ensembl	human	known	74_37	rna	19.72	57	14	SNP	0.133	T	T	11097578	G	T	11097578	1	4	97	0	1	0	0	0	0	0	0	0	1292	962	34	3		3	BAGE	21	11097578	RNA	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	152877	11097578	37032317	375	27987											
C21orf91	54149	genome.wustl.edu	37	chr21	19190565	19190565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agagtgtttctttgtctgttCccagtttacaaacactgcaa	10	15	7	9	0	2	1	0	0	2	1	3	1	3	1	1	0	3	4	1	0	3	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:19190565C>G	ENST00000400558.3	-	2	161	c.71G>C	c.(70-72)gGa>gCa	p.G24A	C21orf91_ENST00000400559.3_Missense_Mutation_p.G24A|C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000284881.4_Missense_Mutation_p.G24A	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TTTGTCTGTTCCCAGTTTACA	0.353																																																	0													196	184	188					21																	19190565		1881	4120	6001	SO:0001583	missense	0			AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"cold sore susceptibility gene 1", "early undifferentiated retina and lens"		"chromosome 21 open reading frame 38"	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.71G>C	21.37:g.19190565C>G	ENSP00000383403:p.Gly24Ala			Missense_Mutation	SNP	pfam_EURL_prot	p.G24A	ENST00000400558.3	37	c.71	CCDS42909.1	21	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805781	0.50421	.	.	ENSG00000154642	ENST00000284881;ENST00000400559;ENST00000400558;ENST00000405964	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.34	5.34	0.76211	.	0.049066	0.85682	D	0.000000	T	0.38506	0.1043	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.67548	0.92;0.952	T	0.02301	-1.1180	9	.	.	.	-6.3039	16.8856	0.86075	0.0:1.0:0.0:0.0	.	24;24	Q9NYK6-3;Q9NYK6	.;EURL_HUMAN	A	24	ENSP00000284881:G24A;ENSP00000383404:G24A;ENSP00000383403:G24A;ENSP00000385566:G24A	.	G	-	2	0	C21orf91	18112436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.788000	0.62439	2.664000	0.90586	0.655000	0.94253	GGA	C21orf91	-	pfam_EURL_prot	ENSG00000154642		0.353	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	C21orf91	HGNC	protein_coding	OTTHUMT00000158214.1	-	0	48	0	C	NM_017447		19190565	-1	tier1	-	no_errors	ENST00000284881	ensembl	human	known	74_37	missense	56.00	22	28	SNP	1.000	G	G	19190565	C	G	19190565	3	3	97	1	0	0	0	0	1	0	0	0	2141	855	30	5	838	5	C21orf91	21	19190565	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	8092987	19190565	28939330	376	27988											
ADAMTS1	9510	genome.wustl.edu	37	chr21	28216841	28216841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtagaaggcgccgcgcaCgccctcgcagaggctgaggg	8	3	17	13	5	0	3	0	1	0	2	1	3	0	3	2	4	0	4	2	4	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:28216841C>T	ENST00000284984.3	-	1	887	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	145					heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCGCCGCGCACGCCCTCGCAG	0.721											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10	11	11					21																	28216841		2188	4283	6471	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.433G>A	21.37:g.28216841C>T	ENSP00000284984:p.Val145Met	800	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS	p.V145M	ENST00000284984.3	37	c.433	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257247	0.59321	.	.	ENSG00000154734	ENST00000284984	T	0.05786	3.39	4.03	1.02	0.19986	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.03783	0.0107	N	0.16130	0.375	0.32529	N	0.535265	B	0.24823	0.112	B	0.25884	0.064	T	0.19386	-1.0307	9	0.52906	T	0.07	.	5.4245	0.16417	0.0:0.3276:0.3795:0.2929	.	145	Q9UHI8	ATS1_HUMAN	M	145	ENSP00000284984:V145M	ENSP00000284984:V145M	V	-	1	0	ADAMTS1	27138712	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	1.624000	0.37018	0.900000	0.36469	0.455000	0.32223	GTG	ADAMTS1	-	pfam_Peptidase_M12B_N	ENSG00000154734		0.721	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	HGNC	protein_coding	OTTHUMT00000171650.2		0	43	0	C			28216841	-1			no_errors	ENST00000284984	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.999	T	T	28216841	C	T	28216841	3	4	97	1	0	0	0	0	1	0	0	0	255	536	19	1	2506	1	ADAMTS1	21	28216841	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	9026276	28216841	19913054	377	27989											
KRTAP19-4	337971	genome.wustl.edu	37	chr21	31869393	31869393	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagcctccacagccataGcccaggcctctgtaatagct	11	7	7	16	0	1	0	0	0	1	0	2	0	2	0	6	1	4	2	6	1	4	3			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:31869393G>T	ENST00000334058.2	-	1	58	c.36C>A	c.(34-36)ggC>ggA	p.G12G		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	12						intermediate filament (GO:0005882)				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CACAGCCATAGCCCAGGCCTC	0.552																																																	0													115	119	118					21																	31869393		2203	4300	6503	SO:0001819	synonymous_variant	0			AP001708	CCDS33534.1	21q22.1	2011-02-10			ENSG00000186967	ENSG00000186967		"Keratin associated proteins"	18939	protein-coding gene	gene with protein product						12359730	Standard	NM_181610		Approved	KAP19.4	uc011acz.2	Q3LI73	OTTHUMG00000057767	ENST00000334058.2:c.36C>A	21.37:g.31869393G>T			Q17RT4|Q17RT6	Silent	SNP	pfam_KRTAP_type6/8/16/19/20	p.G12	ENST00000334058.2	37	c.36	CCDS33534.1	21																																																																																			KRTAP19-4	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000186967		0.552	KRTAP19-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-4	HGNC	protein_coding	OTTHUMT00000128219.2	-	0	80	0	G			31869393	-1	tier1	-	no_errors	ENST00000334058	ensembl	human	known	74_37	silent	72.00	14	36	SNP	0.855	T	T	31869393	G	T	31869393	2	4	97	1	0	0	0	0	0	0	0	1	8558	958	34	3		3	KRTAP19-4	21	31869393	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	3652552	31869393	16260502	378	27990											
KRTAP19-8	728299	genome.wustl.edu	37	chr21	32410730	32410730	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctccatagccatagccCaggcctccataatagcttct	11	9	6	15	0	1	0	0	0	1	0	3	0	3	0	6	1	4	1	6	1	5	5			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr21:32410730C>A	ENST00000382822.2	-	1	65	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	11						intermediate filament (GO:0005882)				endometrium(2)|upper_aerodigestive_tract(1)	3						AGCCATAGCCCAGGCCTCCAT	0.537																																																	0													120	135	130					21																	32410730		2203	4300	6503	SO:0001819	synonymous_variant	0			AB096964	CCDS42917.1	21q22.11	2007-11-23			ENSG00000206102	ENSG00000206102		"Keratin associated proteins"	33898	protein-coding gene	gene with protein product							Standard	NM_001099219		Approved		uc010glt.3	Q3LI54	OTTHUMG00000057787	ENST00000382822.2:c.33G>T	21.37:g.32410730C>A				Silent	SNP	pfam_KRTAP_type6/8/16/19/20	p.L11	ENST00000382822.2	37	c.33	CCDS42917.1	21																																																																																			KRTAP19-8	-	pfam_KRTAP_type6/8/16/19/20	ENSG00000206102		0.537	KRTAP19-8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP19-8	HGNC	protein_coding	OTTHUMT00000128239.3	-	0	95	0	C	NM_001099219		32410730	-1	tier1	-	no_errors	ENST00000382822	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.994	A	A	32410730	C	A	32410730	2	1	97	1	0	0	0	0	0	0	0	1	8562	581	21	3		3	KRTAP19-8	21	32410730	Silent	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	541337	32410730	15719165	379	27991											
POTEH	23784	genome.wustl.edu	37	chr22	16279279	16279279	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttttgctcatgtacaccaAgtaacagtggtgtgaggcca	10	12	11	8	0	1	1	1	1	0	0	1	1	1	1	2	2	3	4	2	2	3	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:16279279A>C	ENST00000343518.6	-	4	995	c.944T>G	c.(943-945)cTt>cGt	p.L315R	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	315										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATGTACACCAAGTAACAGTGG	0.318																																																	0																																										SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.944T>G	22.37:g.16279279A>C	ENSP00000340610:p.Leu315Arg		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L315R	ENST00000343518.6	37	c.944	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	11.79	1.742389	0.30865	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.56275	0.47	1.38	1.38	0.22167	Ankyrin repeat-containing domain (3);	0.279276	0.18784	U	0.131260	T	0.60090	0.2242	L	0.54965	1.715	0.09310	N	0.999992	D;D	0.89917	0.997;1.0	D;D	0.91635	0.989;0.999	T	0.42344	-0.9457	10	0.45353	T	0.12	.	4.9438	0.13978	1.0:0.0:0.0:0.0	.	315;278	Q6S545;A6NKF6	POTEH_HUMAN;.	R	278;315	ENSP00000340610:L315R	ENSP00000340610:L315R	L	-	2	0	POTEH	14659279	0.737000	0.28175	0.294000	0.24946	0.068000	0.16541	3.904000	0.56325	0.890000	0.36211	0.147000	0.16070	CTT	POTEH	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000198062		0.318	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0	922	0	A	NM_001136213		16279279	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	10.09	722	81	SNP	0.103	C	C	16279279	A	C	16279279	3	2	97	1	0	0	0	0	1	0	0	0	12306	72	3	4	721	4	POTEH	22	16279279	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09		16279279	35025287	380	27992											
MICAL3	57553	genome.wustl.edu	37	chr22	18347523	18347523	+	Intron	DEL	A	A	-																															acgcaagcagctggcacatgAaaaaggagtccagagggttt																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:18347523delA	ENST00000441493.2	-	19	2958				MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000429452.1_Frame_Shift_Del_p.F1040fs|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000585038.1_Frame_Shift_Del_p.F1040fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGGCACATGAAAAAGGAGTC	0.572																																																	0													41	43	43					22																	18347523		1568	3582	5150	SO:0001627	intron_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2605+141T>-	22.37:g.18347523delA			B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.F1040fs	ENST00000441493.2	37	c.3119	CCDS46659.1	22																																																																																			MICAL3	-	NULL	ENSG00000243156		0.572	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1		0	44	0	A			18347523	-1	tier1		no_errors	ENST00000429452	ensembl	human	known	74_37	frame_shift_del	10.34	26	3	DEL	1.000	-	-	18347523	A	-	18347523	6	5	97	0	1	1	0	1	0	0	0	0	9609	246	9	0		0	MICAL3	22	18347523	Intron	DEL	A	TCGA-L7-A6VZ-01A-12D-A33E-09	2068244	18347523	32957043	381	27993											
MYO18B	84700	genome.wustl.edu	37	chr22	26231267	26231267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttctcccagcaggtccGcttaccagctggaggaggtg	6	9	14	12	1	1	0	0	0	1	0	3	2	2	2	3	5	3	4	3	5	1	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:26231267G>T	ENST00000407587.2	+	17	3237	c.3068G>T	c.(3067-3069)cGc>cTc	p.R1023L	MYO18B_ENST00000536101.1_Missense_Mutation_p.R1022L|MYO18B_ENST00000335473.7_Missense_Mutation_p.R1022L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1022	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGCAGGTCCGCTTACCAGCT	0.562																																																	0													36	38	37					22																	26231267		1898	4126	6024	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3068G>T	22.37:g.26231267G>T	ENSP00000386096:p.Arg1023Leu		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1022L	ENST00000407587.2	37	c.3065		22	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249670	0.22880	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86627	-2.14;-2.14;-2.15	4.83	1.16	0.20824	Myosin head, motor domain (2);	0.416683	0.24497	N	0.038018	T	0.74045	0.3665	N	0.10760	0.04	0.19575	N	0.999962	P;P;P;P	0.50819	0.759;0.939;0.815;0.925	B;P;B;P	0.50970	0.363;0.655;0.338;0.524	T	0.65734	-0.6096	10	0.18710	T	0.47	.	3.168	0.06542	0.3571:0.2201:0.4229:0.0	.	535;1022;1023;1022	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	1022;1022;1023	ENSP00000441229:R1022L;ENSP00000334563:R1022L;ENSP00000386096:R1023L	ENSP00000334563:R1022L	R	+	2	0	MYO18B	24561267	0.012000	0.17670	0.448000	0.26945	0.196000	0.23810	-0.086000	0.11233	0.385000	0.24970	0.643000	0.83706	CGC	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.562	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0	33	0	G	NM_032608		26231267	1			no_errors	ENST00000335473	ensembl	human	known	74_37	missense	9.68	28	3	SNP	0.330	T	T	26231267	G	T	26231267	3	4	97	1	0	0	0	0	1	0	0	0	10104	1087	38	2	3127	2	MYO18B	22	26231267	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	7883744	26231267	25073299	382	27994											
MCM5	4174	genome.wustl.edu	37	chr22	35820214	35820214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcggcgagatccagcatcGcatgcagcgcaaggttctct	8	7	13	13	5	1	1	0	0	1	1	4	2	2	1	1	2	3	5	1	2	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:35820214G>T	ENST00000216122.4	+	17	2325	c.2171G>T	c.(2170-2172)cGc>cTc	p.R724L	MCM5_ENST00000382011.5_Missense_Mutation_p.R681L	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	724					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATCCAGCATCGCATGCAGCGC	0.647																																																	0													39	31	34					22																	35820214		2146	4172	6318	SO:0001583	missense	0				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)", "MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.2171G>T	22.37:g.35820214G>T	ENSP00000216122:p.Arg724Leu		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase	p.R724L	ENST00000216122.4	37	c.2171	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315666	0.81469	.	.	ENSG00000100297	ENST00000216122;ENST00000382011	T;T	0.04049	4.06;3.72	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	M	0.87180	2.865	0.80722	D	1	P;P;P	0.50369	0.885;0.934;0.885	P;P;P	0.47346	0.544;0.544;0.544	T	0.06023	-1.0850	10	0.56958	D	0.05	-19.2195	17.438	0.87558	0.0:0.0:1.0:0.0	.	724;681;724	B1AHB0;B1AHB1;P33992	.;.;MCM5_HUMAN	L	724;681	ENSP00000216122:R724L;ENSP00000371441:R681L	ENSP00000216122:R724L	R	+	2	0	MCM5	34150214	1.000000	0.71417	0.964000	0.40570	0.477000	0.33069	8.531000	0.90610	2.337000	0.79520	0.462000	0.41574	CGC	MCM5	-	NULL	ENSG00000100297		0.647	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	-	0	39	0	G			35820214	1	tier1	-	no_errors	ENST00000216122	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	35820214	G	T	35820214	3	4	97	1	0	0	0	0	1	0	0	0	9428	1087	38	2	2233	2	MCM5	22	35820214	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9588947	35820214	15484352	383	27995											
APOL3	80833	genome.wustl.edu	37	chr22	36538062	36538062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcctcaatagctgcatatGttctaagcttcttcagagct	9	14	7	11	1	4	1	2	0	2	1	5	1	5	1	1	0	4	5	1	0	4	6	rs368969357		TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:36538062G>T	ENST00000349314.2	-	3	432	c.395C>A	c.(394-396)aCa>aAa	p.T132K	APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000397293.2_Missense_Mutation_p.T61K|APOL3_ENST00000361710.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	132					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AGCTGCATATGTTCTAAGCTT	0.418																																																	0								G	LYS/THR,,	1,4405	2.1+/-5.4	0,1,2202	66	58	61		395,,	-3.8	0	22		61	0,8600		0,0,4300	no	missense,utr-5,utr-5	APOL3	NM_145640.2,NM_145641.2,NM_145642.2	78,,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,,	132/403,,	36538062	1,13005	2203	4300	6503	SO:0001583	missense	0			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"Apolipoproteins"	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.395C>A	22.37:g.36538062G>T	ENSP00000344577:p.Thr132Lys		B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.T132K	ENST00000349314.2	37	c.395	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	G	4.522	0.096877	0.08681	2.27E-4	0.0	ENSG00000128284	ENST00000397293;ENST00000349314	T;T	0.03212	4.01;4.01	3.63	-3.76	0.04359	.	2.450170	0.01132	N	0.006003	T	0.02649	0.0080	L	0.27053	0.805	0.09310	N	0.999998	B;B	0.23442	0.085;0.069	B;B	0.25759	0.063;0.037	T	0.41052	-0.9530	10	0.05525	T	0.97	.	5.795	0.18381	0.2135:0.4202:0.3663:0.0	.	132;61	O95236;O95236-2	APOL3_HUMAN;.	K	61;132	ENSP00000380461:T61K;ENSP00000344577:T132K	ENSP00000344577:T132K	T	-	2	0	APOL3	34868008	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.281000	0.18810	-0.523000	0.06409	0.485000	0.47835	ACA	APOL3	-	pfam_ApoL	ENSG00000128284		0.418	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	-	0	25	0	G	NM_145641		36538062	-1	tier1	-	no_errors	ENST00000349314	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.000	T	T	36538062	G	T	36538062	3	4	97	1	0	0	0	0	1	0	0	0	807	1377	48	3	817	3	APOL3	22	36538062	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	717848	36538062	14766504	384	27996											
TRIOBP	11078	genome.wustl.edu	37	chr22	38121396	38121396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccggccaacccaaggtGacaggcctcagacatcctct	9	6	8	18	1	2	2	1	1	1	1	4	2	4	2	6	3	1	0	6	3	2	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:38121396G>T	ENST00000406386.3	+	7	3088	c.2833G>T	c.(2833-2835)Gac>Tac	p.D945Y		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	945					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACCCAAGGTGACAGGCCTCA	0.642																																																	0													110	130	124					22																	38121396		2099	4222	6321	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2833G>T	22.37:g.38121396G>T	ENSP00000384312:p.Asp945Tyr		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D945Y	ENST00000406386.3	37	c.2833	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705591	0.68615	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.49139	0.79	4.74	4.74	0.60224	.	.	.	.	.	T	0.63674	0.2531	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.66019	-0.6027	9	0.72032	D	0.01	.	13.4663	0.61256	0.0:0.0:1.0:0.0	.	945	Q9H2D6	TARA_HUMAN	Y	945	ENSP00000384312:D945Y	ENSP00000384312:D945Y	D	+	1	0	TRIOBP	36451342	0.981000	0.34729	1.000000	0.80357	0.990000	0.78478	1.812000	0.38952	2.635000	0.89317	0.558000	0.71614	GAC	TRIOBP	-	NULL	ENSG00000100106		0.642	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	-	0	29	0	G			38121396	1	tier1	-	no_errors	ENST00000406386	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.998	T	T	38121396	G	T	38121396	3	4	97	1	0	0	0	0	1	0	0	0	16601	1290	45	3	2851	3	TRIOBP	22	38121396	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	1583334	38121396	13183170	385	27997											
TRIOBP	11078	genome.wustl.edu	37	chr22	38130773	38130773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagccccggagggagcatGggggggcacttccagggagt	9	4	18	10	1	0	0	0	0	0	0	1	3	1	3	3	6	2	2	3	6	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:38130773G>T	ENST00000406386.3	+	9	4685	c.4430G>T	c.(4429-4431)tGg>tTg	p.W1477L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1477					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGGGAGCATGGGGGGGCACT	0.667																																																	0													10	12	11					22																	38130773		1748	3906	5654	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4430G>T	22.37:g.38130773G>T	ENSP00000384312:p.Trp1477Leu		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.W1477L	ENST00000406386.3	37	c.4430	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	11.88	1.771916	0.31320	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.51325	0.71	5.37	-0.446	0.12238	.	.	.	.	.	T	0.27063	0.0663	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.18304	-1.0341	9	0.44086	T	0.13	.	1.8474	0.03162	0.2371:0.1365:0.4857:0.1407	.	1477	Q9H2D6	TARA_HUMAN	L	1477;1438	ENSP00000384312:W1477L	ENSP00000384312:W1477L	W	+	2	0	TRIOBP	36460719	0.095000	0.21747	0.001000	0.08648	0.002000	0.02628	1.231000	0.32624	-0.232000	0.09811	-0.379000	0.06801	TGG	TRIOBP	-	NULL	ENSG00000100106		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2		0	75	0	G			38130773	1			no_errors	ENST00000406386	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.003	T	T	38130773	G	T	38130773	3	4	97	1	0	0	0	0	1	0	0	0	16601	1357	47	3	4456	3	TRIOBP	22	38130773	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	9377	38130773	13173793	386	27998											
MICALL1	85377	genome.wustl.edu	37	chr22	38333099	38333099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagaaaaggactggaCggaggaggaccgggcccggg	10	2	20	9	3	0	1	0	0	0	1	0	6	0	6	2	8	0	1	2	8	2	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chr22:38333099C>A	ENST00000215957.6	+	14	2447	c.2321C>A	c.(2320-2322)aCg>aAg	p.T774K	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	774	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGGACTGGACGGAGGAGGAC	0.607																																																	0													59	63	62					22																	38333099		1944	3695	5639	SO:0001583	missense	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2321C>A	22.37:g.38333099C>A	ENSP00000215957:p.Thr774Lys		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.T774K	ENST00000215957.6	37	c.2321	CCDS13961.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.239759|3.239759	0.58995|0.58995	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631;ENST00000424008	.|T;T;T	.|0.55760	.|0.5;0.5;0.5	5.26|5.26	4.25|4.25	0.50352|0.50352	.|Domain of unknown function DUF3585 (1);	.|0.099522	.|0.44285	.|D	.|0.000478	T|T	0.69151|0.69151	0.3079|0.3079	M|M	0.83953|0.83953	2.67|2.67	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.60160	.|0.987	.|P	.|0.61397	.|0.888	T|T	0.73026|0.73026	-0.4112|-0.4112	5|10	.|0.87932	.|D	.|0	.|.	9.8831|9.8831	0.41245|0.41245	0.0:0.8447:0.0:0.1553|0.0:0.8447:0.0:0.1553	.|.	.|774	.|Q8N3F8	.|MILK1_HUMAN	E|K	349|774;201;88	.|ENSP00000215957:T774K;ENSP00000384608:T201K;ENSP00000416766:T88K	.|ENSP00000215957:T774K	D|T	+|+	3|2	2|0	MICALL1|MICALL1	36663045|36663045	0.861000|0.861000	0.29849|0.29849	0.992000|0.992000	0.48379|0.48379	0.991000|0.991000	0.79684|0.79684	1.444000|1.444000	0.35068|0.35068	1.216000|1.216000	0.43427|0.43427	0.596000|0.596000	0.82720|0.82720	GAC|ACG	MICALL1	-	pfam_DUF3585	ENSG00000100139		0.607	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4		0	33	0	C	NM_033386		38333099	1			no_errors	ENST00000215957	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.944	A	A	38333099	C	A	38333099	3	1	97	1	0	0	0	0	1	0	0	0	9611	536	19	2	2375	2	MICALL1	22	38333099	Missense_Mutation	SNP	C	TCGA-L7-A6VZ-01A-12D-A33E-09	202326	38333099	12971467	387	27999											
SFRS17A	8227	genome.wustl.edu	37	chrX	1712481	1712481	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcagctgaagcagccGgggaagtccatctccaactg	9	6	11	15	2	1	1	0	1	1	0	4	2	3	2	4	2	4	3	4	2	3	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:1712481G>T	ENST00000313871.3	+	2	322	c.126G>T	c.(124-126)ccG>ccT	p.P42P	AKAP17A_ENST00000381261.3_Silent_p.P42P	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	42					B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGAAGCAGCCGGGGAAGTCCA	0.587																																																	0													133	115	121					X																	1712481		2203	4296	6499	SO:0001819	synonymous_variant	0			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"Pseudoautosomal regions / PAR1", "A-kinase anchor proteins"	18783	protein-coding gene	gene with protein product		312095, 465000	"chromosome X and Y open reading frame 3", "splicing factor, arginine/serine-rich 17A"	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.126G>T	X.37:g.1712481G>T			Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Silent	SNP	NULL	p.P42	ENST00000313871.3	37	c.126	CCDS14116.1	X																																																																																			AKAP17A	-	NULL	ENSG00000197976		0.587	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP17A	HGNC	protein_coding	OTTHUMT00000055609.2	-	0	115	0	G	NM_005088		1712481	1	tier1	-	no_errors	ENST00000313871	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.900	T	T	1712481	G	T	1712481	2	4	97	1	0	0	0	0	0	0	0	1	14218	1103	39	2		2	SFRS17A	23	1712481	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09		1712481	153558079	388	28000											
CCDC22	28952	genome.wustl.edu	37	chrX	49105333	49105333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggctggcctacacccagcGcatcctggagatcgtgggca	7	6	13	15	3	0	1	0	0	0	1	2	2	1	1	4	4	2	3	4	4	1	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:49105333G>T	ENST00000376227.3	+	13	1657	c.1487G>T	c.(1486-1488)cGc>cTc	p.R496L		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	496										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TACACCCAGCGCATCCTGGAG	0.607																																																	0													64	43	50					X																	49105333		2201	4298	6499	SO:0001583	missense	0			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"chromosome X open reading frame 37"	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1487G>T	X.37:g.49105333G>T	ENSP00000365401:p.Arg496Leu		A8K7G1	Missense_Mutation	SNP	pfam_DUF812	p.R496L	ENST00000376227.3	37	c.1487	CCDS14322.1	X	.	.	.	.	.	.	.	.	.	.	G	28.3	4.908900	0.92107	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85757	0.1347	9	0.66056	D	0.02	-12.2605	17.1252	0.86712	0.0:0.0:1.0:0.0	.	496	O60826	CCD22_HUMAN	L	496	.	ENSP00000365401:R496L	R	+	2	0	CCDC22	48992277	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.167000	0.94773	2.309000	0.77851	0.292000	0.19580	CGC	CCDC22	-	pfam_DUF812	ENSG00000101997		0.607	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	-	0	21	0	G	NM_014008		49105333	1	tier1	-	no_errors	ENST00000376227	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T	T	49105333	G	T	49105333	3	4	97	1	0	0	0	0	1	0	0	0	2804	1087	38	2	1537	2	CCDC22	23	49105333	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	47392852	49105333	106165227	389	28001											
ZC3H12B	340554	genome.wustl.edu	37	chrX	64718911	64718911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgaaaactggagaaggaaAagattcttgtcttcacacca	16	9	8	8	1	3	2	1	0	2	2	3	5	3	3	1	2	2	0	1	2	6	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:64718911A>G	ENST00000338957.4	+	3	848	c.781A>G	c.(781-783)Aag>Gag	p.K261E	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.K250E	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	261							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGAAGGAAAAGATTCTTGT	0.398																																																	0													154	145	148					X																	64718911		1892	4101	5993	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.781A>G	X.37:g.64718911A>G	ENSP00000340839:p.Lys261Glu		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.K261E	ENST00000338957.4	37	c.781	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	A	23.7	4.448771	0.84101	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.41065	1.01;1.01	5.3	5.3	0.74995	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	L	0.52266	1.64	0.54753	D	0.999989	D	0.76494	0.999	D	0.83275	0.996	T	0.59225	-0.7494	10	0.54805	T	0.06	-2.0986	13.1105	0.59270	1.0:0.0:0.0:0.0	.	250	Q5HYM0	ZC12B_HUMAN	E	261;250;197	ENSP00000340839:K261E;ENSP00000408077:K250E	ENSP00000218172:K197E	K	+	1	0	ZC3H12B	64635636	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.209000	0.77916	1.778000	0.52293	0.356000	0.21956	AAG	ZC3H12B	-	pfam_RNase_Zc3h12	ENSG00000102053		0.398	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	-	0	35	0	A	XM_293334		64718911	1	tier1	-	no_errors	ENST00000338957	ensembl	human	known	74_37	missense	76.47	8	26	SNP	1.000	G	G	64718911	A	G	64718911	3	3	97	1	0	0	0	0	1	0	0	0	17610	15	1	4	791	4	ZC3H12B	23	64718911	Missense_Mutation	SNP	A	TCGA-L7-A6VZ-01A-12D-A33E-09	15613578	64718911	90551649	390	28002											
HEPH	9843	genome.wustl.edu	37	chrX	65428033	65428033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagccgcccctactctgtGcatgctcatggagtgctaga	7	9	11	14	1	2	1	1	0	1	1	2	2	2	2	4	1	5	3	4	1	2	2			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:65428033G>A	ENST00000343002.2	+	14	3172	c.2508G>A	c.(2506-2508)gtG>gtA	p.V836V	HEPH_ENST00000374727.3_Silent_p.V839V|HEPH_ENST00000336279.5_Silent_p.V569V|HEPH_ENST00000441993.2_Silent_p.V839V|HEPH_ENST00000519389.1_Silent_p.V890V|HEPH_ENST00000419594.1_Silent_p.V647V			Q9BQS7	HEPH_HUMAN	hephaestin	836	Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCTACTCTGTGCATGCTCATG	0.448																																																	0													99	72	81					X																	65428033		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2508G>A	X.37:g.65428033G>A			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.V890	ENST00000343002.2	37	c.2670		X																																																																																			HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.448	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	0	61	0	G	NM_138737		65428033	1	tier1	-	no_errors	ENST00000519389	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.046	A	A	65428033	G	A	65428033	2	1	97	1	0	0	0	0	0	0	0	1	7081	1306	46	3		3	HEPH	23	65428033	Silent	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	709122	65428033	89842527	391	28003											
MED12	9968	genome.wustl.edu	37	chrX	70360680	70360682	+	In_Frame_Del	DEL	GCA	GCA	-																															cagcagcagtaccacatccgGcagcagcagcagcagcagat																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:70360680_70360682delGCA	ENST00000374080.3	+	42	6272_6274	c.6240_6242delGCA	c.(6238-6243)cggcag>cgg	p.Q2086del	MED12_ENST00000333646.6_In_Frame_Del_p.Q2089del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2085del|AL590764.1_ENST00000579622.1_RNA			Q93074	MED12_HUMAN	mediator complex subunit 12	2086	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					accacatccggcagcagcagcag	0.586			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0																																										SO:0001651	inframe_deletion	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6240_6242delGCA	X.37:g.70360689_70360691delGCA	ENSP00000363193:p.Gln2086del		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.Q2087in_frame_del	ENST00000374080.3	37	c.6249_6251	CCDS43970.1	X																																																																																			MED12	-	NULL	ENSG00000184634		0.586	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1		0	18	0	GCA	NM_005120		70360682	1	tier1		no_errors	ENST00000333646	ensembl	human	known	74_37	in_frame_del	23.53	13	4	DEL	0.997:1.000:1.000	-	-	70360682	GCA	-	70360680	7	5	97	1	0	1	0	1	0	0	0	0	9466	1190	42	0	6406	0	MED12	23	70360680	In_Frame_Del	DEL	GCA	TCGA-L7-A6VZ-01A-12D-A33E-09	4932647	70360680	84909880	392	28004											
POF1B	79983	genome.wustl.edu	37	chrX	84563182	84563182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccgtatgttgctaaatgtgGacagcactagtcggagtgac	10	10	12	9	2	0	1	0	1	0	0	1	3	0	3	1	2	2	4	1	2	4	4			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:84563182G>C	ENST00000262753.4	-	10	1143	c.998C>G	c.(997-999)tCc>tGc	p.S333C	POF1B_ENST00000373145.3_Missense_Mutation_p.S333C	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	333						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCTAAATGTGGACAGCACTAG	0.358																																																	0													95	82	87					X																	84563182		2203	4300	6503	SO:0001583	missense	0			BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.998C>G	X.37:g.84563182G>C	ENSP00000262753:p.Ser333Cys		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	NULL	p.S333C	ENST00000262753.4	37	c.998	CCDS14452.1	X	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561149	0.65538	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	T;T	0.15603	2.41;2.41	5.86	5.86	0.93980	.	0.153022	0.64402	D	0.000010	T	0.36468	0.0968	L	0.55481	1.735	0.36512	D	0.869678	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.38499	-0.9658	10	0.87932	D	0	3.4256	12.8266	0.57723	0.0:0.0:0.8368:0.1632	.	333;333	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	C	333	ENSP00000262753:S333C;ENSP00000362238:S333C	ENSP00000262753:S333C	S	-	2	0	POF1B	84449838	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	3.860000	0.55995	2.471000	0.83476	0.600000	0.82982	TCC	POF1B	-	NULL	ENSG00000124429		0.358	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POF1B	HGNC	protein_coding	OTTHUMT00000057391.2	-	0	77	0	G	NM_024921		84563182	-1	tier1	-	no_errors	ENST00000373145	ensembl	human	known	74_37	missense	78.48	16	62	SNP	0.997	C	C	84563182	G	C	84563182	3	2	97	1	0	0	0	0	1	0	0	0	12221	1174	41	5	803	5	POF1B	23	84563182	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	14202502	84563182	70707378	393	28005											
RAB40AL	282808	genome.wustl.edu	37	chrX	102192431	102192431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctgctggacggccagcGggtgaagctgaagctctggg	7	7	16	11	2	1	2	0	2	1	0	2	3	2	3	2	4	4	3	2	4	2	0			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:102192431G>C	ENST00000218249.5	+	1	232	c.185G>C	c.(184-186)cGg>cCg	p.R62P	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	62					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GACGGCCAGCGGGTGAAGCTG	0.597																																																	0													86	85	85					X																	102192431		2203	4299	6502	SO:0001583	missense	0			BC101169	CCDS35353.1	Xq22.2	2008-02-05			ENSG00000102128	ENSG00000102128			25410	protein-coding gene	gene with protein product	"Ras like GTPase"	300405					Standard	NM_001031834		Approved	RAR2, RLGP	uc004ejs.3	P0C0E4	OTTHUMG00000022084	ENST00000218249.5:c.185G>C	X.37:g.102192431G>C	ENSP00000218249:p.Arg62Pro		Q495H3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R62P	ENST00000218249.5	37	c.185	CCDS35353.1	X	.	.	.	.	.	.	.	.	.	.	.	23.3	4.399788	0.83120	.	.	ENSG00000102128	ENST00000218249	T	0.77229	-1.08	0.779	0.779	0.18550	Small GTP-binding protein domain (1);	0.000000	0.42548	U	0.000686	T	0.78773	0.4336	L	0.39020	1.185	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	T	0.76892	-0.2791	10	0.87932	D	0	.	7.2348	0.26064	1.0E-4:0.0:0.9999:0.0	.	62	P0C0E4	RB40L_HUMAN	P	62	ENSP00000218249:R62P	ENSP00000218249:R62P	R	+	2	0	RAB40AL	102079087	0.799000	0.28903	0.965000	0.40720	0.924000	0.55760	2.130000	0.42064	0.678000	0.31325	0.458000	0.33432	CGG	RAB40AL	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000102128		0.597	RAB40AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40AL	HGNC	protein_coding	OTTHUMT00000057679.1	-	0	36	0	G	NM_001031834		102192431	1	tier1	-	no_errors	ENST00000218249	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.997	C	C	102192431	G	C	102192431	3	2	97	1	0	0	0	0	1	0	0	0	12985	1116	39	5	187	5	RAB40AL	23	102192431	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	17629249	102192431	53078129	394	28006											
L1CAM	3897	genome.wustl.edu	37	chrX	153134317	153134317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaacactgggcacaggcGctccgaaggccttgcacaga	11	5	12	13	2	0	2	0	1	0	1	1	3	1	2	2	3	2	3	2	3	2	1			TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrX:153134317G>A	ENST00000370060.1	-	12	1547	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	L1CAM_ENST00000361699.4_Missense_Mutation_p.A453V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A455V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A448V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A453V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A448V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A455V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	453	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGCACAGGCGCTCCGAAGGC	0.632																																																	0													185	142	157					X																	153134317		2203	4300	6503	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	6470	protein-coding gene	gene with protein product		308840	"antigen identified by monoclonal antibody R1"	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1358C>T	X.37:g.153134317G>A	ENSP00000359077:p.Ala453Val		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A455V	ENST00000370060.1	37	c.1364	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	12.41	1.928939	0.34002	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.67	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.427868	0.21665	N	0.070954	T	0.53514	0.1801	N	0.17312	0.475	0.32004	N	0.602981	P;P;P	0.52692	0.911;0.955;0.928	B;P;B	0.46320	0.255;0.512;0.284	T	0.63782	-0.6559	10	0.56958	D	0.05	.	10.1228	0.42632	0.1632:0.0:0.8368:0.0	.	448;453;453	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	453;455;453;455;448;448;453	ENSP00000359077:A453V;ENSP00000438430:A455V;ENSP00000359074:A453V;ENSP00000439645:A455V;ENSP00000354712:A448V;ENSP00000359072:A448V;ENSP00000355380:A453V	ENSP00000355380:A453V	A	-	2	0	L1CAM	152787511	0.996000	0.38824	0.698000	0.30274	0.479000	0.33129	4.855000	0.62925	2.398000	0.81561	0.529000	0.55759	GCG	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000198910		0.632	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	-	0	36	0	G	NM_024003		153134317	-1	tier1	-	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	94.44	2	34	SNP	0.417	A	A	153134317	G	A	153134317	3	1	97	1	0	0	0	0	1	0	0	0	8616	1087	38	1	2487	1	L1CAM	23	153134317	Missense_Mutation	SNP	G	TCGA-L7-A6VZ-01A-12D-A33E-09	50941886	153134317	2136243	395	28007											
UTY	7404	genome.wustl.edu	37	chrY	15448130	15448130	+	Frame_Shift_Del	DEL	T	T	-																															taataccagtgctagttgccTggtgatactgggctgaccca																										TCGA-L7-A6VZ-01A-12D-A33E-09	TCGA-L7-A6VZ-10A-01D-A33H-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	18c1ba92-261a-4755-99ac-e9b0f4a44d0c	b8f11b6f-eb01-4f1c-910e-3b713b5c0aa5	g.chrY:15448130delT	ENST00000331397.4	-	16	2863	c.1856delA	c.(1855-1857)cagfs	p.Q619fs	UTY_ENST00000329134.5_Frame_Shift_Del_p.Q619fs|UTY_ENST00000545955.1_Frame_Shift_Del_p.Q694fs|UTY_ENST00000382896.4_Frame_Shift_Del_p.Q664fs|UTY_ENST00000538878.1_Frame_Shift_Del_p.Q586fs|UTY_ENST00000540140.1_Frame_Shift_Del_p.Q616fs|UTY_ENST00000537580.1_Frame_Shift_Del_p.Q540fs|UTY_ENST00000362096.4_Frame_Shift_Del_p.Q619fs	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	619					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						GCTAGTTGCCTGGTGATACTG	0.438																																					Colon(103;1740 2135 40732 45171)												0													79	71	73					Y																	15448130		597	1949	2546	SO:0001589	frameshift_variant	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.1856delA	Y.37:g.15448130delT	ENSP00000328939:p.Gln619fs		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q664fs	ENST00000331397.4	37	c.1991	CCDS14783.1	Y																																																																																			UTY	-	NULL	ENSG00000183878		0.438	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1		0	29	0	T	NM_182660		15448130	-1	tier1		no_errors	ENST00000382896	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	1.000	-	-	15448130	T	-	15448130	7	5	97	1	0	1	0	1	0	0	0	0	17156	1580	55	0	2502	0	UTY	24	15448130	Frame_Shift_Del	DEL	T	TCGA-L7-A6VZ-01A-12D-A33E-09		15448130	43925436	396	28008											
ATAD3B	83858	genome.wustl.edu	37	chr1	1412670	1412670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggttacgccaaggaggcCctgaatctggcgcagatgca	10	6	14	11	2	1	2	0	1	1	1	1	3	1	3	2	4	2	4	2	4	3	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:1412670C>T	ENST00000308647.7	+	2	338	c.222C>T	c.(220-222)gcC>gcT	p.A74A	ATAD3B_ENST00000378741.3_5'UTR	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	74						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCAAGGAGGCCCTGAATCTGG	0.612																																																	0													46	44	44					1																	1412670		2203	4295	6498	SO:0001819	synonymous_variant	0			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"ATPases / AAA-type"	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.222C>T	1.37:g.1412670C>T			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A74	ENST00000308647.7	37	c.222	CCDS30.1	1																																																																																			ATAD3B	-	pfam_DUF3523	ENSG00000160072		0.612	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	-	0	76	0	C	NM_031921		1412670	1	tier1	-	no_errors	ENST00000308647	ensembl	human	known	74_37	silent	52.83	25	28	SNP	0.892	T	T	1412670	C	T	1412670	2	4	98	1	0	0	0	0	0	0	0	1	1075	610	22	3		3	ATAD3B	1	1412670	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		1412670	247837951	1	28009											
DLGAP3	58512	genome.wustl.edu	37	chr1	35334318	35334318	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaccactcgccgtcgcgtggGcagggggatgcgcggcctga	6	5	17	13	6	0	1	0	1	0	0	2	2	0	2	3	4	2	1	3	4	1	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:35334318G>T	ENST00000373347.1	-	9	2641	c.2373C>A	c.(2371-2373)tgC>tgA	p.C791*	DLGAP3_ENST00000235180.4_Nonsense_Mutation_p.C791*			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	791					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGTCGCGTGGGCAGGGGGATG	0.701																																																	0													38	38	38					1																	35334318		2203	4300	6503	SO:0001587	stop_gained	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.2373C>A	1.37:g.35334318G>T	ENSP00000362444:p.Cys791*		Q5TDD5|Q9H3X7	Nonsense_Mutation	SNP	pfam_GKAP	p.C791*	ENST00000373347.1	37	c.2373	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.162360	0.99085	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	.	.	.	5.09	3.14	0.36123	.	0.044560	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.2823	11.0265	0.47748	0.1572:0.0:0.8428:0.0	.	.	.	.	X	791	.	ENSP00000235180:C791X	C	-	3	2	DLGAP3	35106905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.954000	0.56708	0.656000	0.30886	0.655000	0.94253	TGC	DLGAP3	-	pfam_GKAP	ENSG00000116544		0.701	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	-	0	31	0	G	NM_021234		35334318	-1	tier1	-	no_errors	ENST00000235180	ensembl	human	known	74_37	nonsense	36.36	7	4	SNP	1.000	T	T	35334318	G	T	35334318	4	4	98	1	0	0	0	0	0	1	0	0	4575	1195	42	3	582	3	DLGAP3	1	35334318	Nonsense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	33921648	35334318	213916303	2	28010											
IL12RB2	3595	genome.wustl.edu	37	chr1	67855810	67855810	+	Splice_Site	DEL	A	A	-																															taagaaatatcccattgcagAggtaaggtacaattcctctg																										TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:67855810delA	ENST00000262345.1	+	15	2685	c.2045delA	c.(2044-2046)gag>gg	p.E683fs	IL12RB2_ENST00000371000.1_Intron|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Splice_Site_p.E597fs|IL12RB2_ENST00000541374.1_Intron	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	683					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCCATTGCAGAGGTAAGGTAC	0.473																																																	0													92	80	84					1																	67855810		2203	4300	6503	SO:0001630	splice_region_variant	0			U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2046+1A>-	1.37:g.67855810delA			B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E682fs	ENST00000262345.1	37	c.2045	CCDS638.1	1																																																																																			IL12RB2	-	NULL	ENSG00000081985		0.473	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB2	HGNC	protein_coding	OTTHUMT00000025202.2		0	39	0	A	NM_001559	Frame_Shift_Del	67855810	1	tier1		no_errors	ENST00000262345	ensembl	human	known	74_37	frame_shift_del	10.42	43	5	DEL	1.000	-	-	67855810	A	-	67855810	8	5	98	1	0	1	0	1	0	0	1	0	7654	318	11	0	2099	0	IL12RB2	1	67855810	Splice_Site	DEL	A	TCGA-LN-A49K-01A-11D-A247-09	32521492	67855810	181394811	3	28011											
LRRC7	57554	genome.wustl.edu	37	chr1	70504428	70504428	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggctttcccccctaaTgaaagatatcaagtctaata	15	10	7	9	0	2	3	1	1	1	2	3	4	3	3	3	1	0	1	3	1	6	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:70504428T>A	ENST00000035383.5	+	19	2837	c.2807T>A	c.(2806-2808)aTg>aAg	p.M936K	LRRC7_ENST00000415775.2_Missense_Mutation_p.M220K|LRRC7_ENST00000310961.5_Missense_Mutation_p.M941K	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	936						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCCCCCCTAATGAAAGATATC	0.363																																																	0													56	57	56					1																	70504428		2203	4300	6503	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2807T>A	1.37:g.70504428T>A	ENSP00000035383:p.Met936Lys		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.M936K	ENST00000035383.5	37	c.2807	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209417	0.39003	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37058	1.22;1.3;2.39	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.36220	0.0959	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.58970	0.977;0.984;0.973	P;D;D	0.69479	0.735;0.964;0.921	T	0.10154	-1.0642	10	0.28530	T	0.3	.	15.0844	0.72138	0.0:0.0:0.0:1.0	.	220;936;936	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	K	941;936;220;759	ENSP00000309245:M941K;ENSP00000035383:M936K;ENSP00000394867:M220K	ENSP00000035383:M936K	M	+	2	0	LRRC7	70277016	1.000000	0.71417	0.997000	0.53966	0.102000	0.19082	7.477000	0.81069	2.169000	0.68431	0.383000	0.25322	ATG	LRRC7	-	NULL	ENSG00000033122		0.363	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	-	0	20	0	T	NM_020794		70504428	1	tier1	-	no_errors	ENST00000035383	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	A	A	70504428	T	A	70504428	3	1	98	1	0	0	0	0	1	0	0	0	9055	1464	51	5	2881	5	LRRC7	1	70504428	Missense_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	2648618	70504428	178746193	4	28012											
CELSR2	1952	genome.wustl.edu	37	chr1	109811375	109811375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccccttcaccatcgtcaCgcccaacattggtaaggctg	10	8	8	15	2	2	0	2	0	0	0	3	0	2	0	4	2	2	2	4	2	3	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:109811375C>T	ENST00000271332.3	+	18	6552	c.6491C>T	c.(6490-6492)aCg>aTg	p.T2164M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2164					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ACCATCGTCACGCCCAACATT	0.647																																					NSCLC(158;1285 2011 34800 34852 42084)												0													72	69	70					1																	109811375		2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6491C>T	1.37:g.109811375C>T	ENSP00000271332:p.Thr2164Met		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T2164M	ENST00000271332.3	37	c.6491	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998375	0.54147	.	.	ENSG00000143126	ENST00000271332	T	0.13196	2.61	4.77	4.77	0.60923	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.32315	0.0825	M	0.76838	2.35	0.58432	D	0.999991	D	0.89917	1.0	D	0.79108	0.992	T	0.12426	-1.0548	9	0.66056	D	0.02	.	17.9851	0.89153	0.0:1.0:0.0:0.0	.	2164	Q9HCU4	CELR2_HUMAN	M	2164	ENSP00000271332:T2164M	ENSP00000271332:T2164M	T	+	2	0	CELSR2	109612898	1.000000	0.71417	0.931000	0.37212	0.258000	0.26162	7.273000	0.78527	2.502000	0.84385	0.462000	0.41574	ACG	CELSR2	-	pfam_DUF3497	ENSG00000143126		0.647	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	0	68	0	C	NM_001408		109811375	1	tier1	-	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	49.21	32	31	SNP	1.000	T	T	109811375	C	T	109811375	3	4	98	1	0	0	0	0	1	0	0	0	3229	536	19	1	6561	1	CELSR2	1	109811375	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	39306947	109811375	139439246	5	28013											
MOV10	4343	genome.wustl.edu	37	chr1	113237086	113237086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaaagcctcctgagccGctttgtggatgggctgacct	6	10	12	13	1	0	2	0	2	0	0	1	3	1	3	5	2	3	2	5	2	1	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:113237086G>A	ENST00000413052.2	+	9	1697	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	MOV10_ENST00000369644.1_Missense_Mutation_p.R380H|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.R436H|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369645.1_Missense_Mutation_p.R436H	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	436					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTCCTGAGCCGCTTTGTGGAT	0.597																																																	0													57	60	59					1																	113237086		2203	4300	6503	SO:0001583	missense	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 113"	610742	"Mov10 (Moloney leukemia virus 10, mouse) homolog", "Mov10, Moloney leukemia virus 10, homolog (mouse)"			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.1307G>A	1.37:g.113237086G>A	ENSP00000399797:p.Arg436His		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R436H	ENST00000413052.2	37	c.1307	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762695	0.49574	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000285733;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.09	4.17	0.49024	.	0.461885	0.18895	N	0.128186	D	0.90072	0.6899	L	0.38838	1.175	0.80722	D	1	B;D;P	0.76494	0.146;0.999;0.53	B;P;B	0.62382	0.018;0.901;0.074	D	0.90021	0.4128	10	0.56958	D	0.05	-16.0533	9.0708	0.36491	0.1576:0.0:0.8424:0.0	.	380;436;436	Q5JR04;Q9H8T8;Q9HCE1	.;.;MOV10_HUMAN	H	436;436;436;380;436;374	ENSP00000399797:R436H;ENSP00000358659:R436H;ENSP00000358658:R380H;ENSP00000350028:R436H	ENSP00000285733:R436H	R	+	2	0	MOV10	113038609	0.222000	0.23652	1.000000	0.80357	0.993000	0.82548	2.055000	0.41345	2.371000	0.80710	0.561000	0.74099	CGC	MOV10	-	NULL	ENSG00000155363		0.597	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	-	0	66	0	G	NM_020963		113237086	1	tier1	-	no_errors	ENST00000357443	ensembl	human	known	74_37	missense	59.62	21	31	SNP	0.969	A	A	113237086	G	A	113237086	3	1	98	1	0	0	0	0	1	0	0	0	9756	1087	38	1	1337	1	MOV10	1	113237086	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	3425711	113237086	136013535	6	28014											
OR10Z1	128368	genome.wustl.edu	37	chr1	158576618	158576618	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggccatctgtgctccactCcactatgccagccacatgaa	9	9	8	15	0	1	1	0	1	1	0	3	1	3	1	5	1	3	1	5	1	2	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:158576618C>A	ENST00000361284.1	+	1	390	c.390C>A	c.(388-390)ctC>ctA	p.L130L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTGCTCCACTCCACTATGCCA	0.507																																																	0													95	96	95					1																	158576618		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"GPCR / Class A : Olfactory receptors"	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.390C>A	1.37:g.158576618C>A			Q5VYL0|Q6IFR7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L130	ENST00000361284.1	37	c.390	CCDS30901.1	1																																																																																			OR10Z1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000198967		0.507	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	-	0	43	0	C	NM_001004478		158576618	1	tier1	-	no_errors	ENST00000361284	ensembl	human	known	74_37	silent	34.21	50	26	SNP	0.925	A	A	158576618	C	A	158576618	2	1	98	1	0	0	0	0	0	0	0	1	10962	842	30	3		3	OR10Z1	1	158576618	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	45339532	158576618	90674003	7	28015											
OLFML2B	25903	genome.wustl.edu	37	chr1	161954722	161954722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcattccgcccatatgtgTtctgggtggtcggccccgtg	3	13	12	13	3	2	0	1	0	1	0	4	0	3	0	4	3	0	1	4	3	1	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:161954722T>C	ENST00000294794.3	-	7	1946	c.1523A>G	c.(1522-1524)aAc>aGc	p.N508S	OLFML2B_ENST00000367940.2_Missense_Mutation_p.N509S|OLFML2B_ENST00000367938.1_5'UTR	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	508	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCCATATGTGTTCTGGGTGGT	0.552																																																	0													189	167	174					1																	161954722		2203	4300	6503	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1523A>G	1.37:g.161954722T>C	ENSP00000294794:p.Asn508Ser		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.N508S	ENST00000294794.3	37	c.1523	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096715	0.76870	.	.	ENSG00000162745	ENST00000294794;ENST00000367940	D;D	0.88509	-2.39;-2.39	4.31	4.31	0.51392	Olfactomedin-like (3);	.	.	.	.	D	0.83440	0.5255	N	0.20401	0.57	0.41391	D	0.987618	P;B	0.50156	0.932;0.34	P;B	0.58520	0.84;0.349	D	0.84887	0.0834	8	0.46703	T	0.11	.	11.4874	0.50361	0.0:0.0:0.0:1.0	.	509;508	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	S	508;509	ENSP00000294794:N508S;ENSP00000356917:N509S	ENSP00000294794:N508S	N	-	2	0	OLFML2B	160221346	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.722000	0.84778	1.812000	0.52913	0.459000	0.35465	AAC	OLFML2B	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.552	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	-	0	79	0	T	NM_015441		161954722	-1	tier1	-	no_errors	ENST00000294794	ensembl	human	known	74_37	missense	32.61	62	30	SNP	1.000	C	C	161954722	T	C	161954722	3	2	98	1	0	0	0	0	1	0	0	0	10897	1725	60	4	737	4	OLFML2B	1	161954722	Missense_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	3378104	161954722	87295899	8	28016											
QSOX1	5768	genome.wustl.edu	37	chr1	180165983	180165983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgacatccctgagggccaGctggaggcccgagctggacg	7	5	16	13	3	0	1	0	1	0	0	2	5	1	3	3	4	2	2	3	4	0	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:180165983G>T	ENST00000367602.3	+	12	2129	c.2055G>T	c.(2053-2055)caG>caT	p.Q685H	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	685					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGAGGGCCAGCTGGAGGCCC	0.672																																																	0													40	53	49					1																	180165983		2198	4297	6495	SO:0001583	missense	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.2055G>T	1.37:g.180165983G>T	ENSP00000356574:p.Gln685His		Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.Q685H	ENST00000367602.3	37	c.2055	CCDS1337.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.064427|2.064427	0.36470|0.36470	.|.	.|.	ENSG00000116260|ENSG00000116260	ENST00000367602|ENST00000443059	T|.	0.04654|.	3.58|.	4.92|4.92	3.0|3.0	0.34707|0.34707	.|.	1.188210|.	0.05574|.	N|.	0.571666|.	T|T	0.30854|0.30854	0.0778|0.0778	N|N	0.08118|0.08118	0|0	0.51767|0.51767	D|D	0.999936|0.999936	B|.	0.22909|.	0.077|.	B|.	0.11329|.	0.006|.	T|T	0.04650|0.04650	-1.0936|-1.0936	10|5	0.52906|.	T|.	0.07|.	-13.1524|-13.1524	7.1229|7.1229	0.25454|0.25454	0.2071:0.0:0.7928:0.0|0.2071:0.0:0.7928:0.0	.|.	685|.	O00391|.	QSOX1_HUMAN|.	H|I	685|56	ENSP00000356574:Q685H|.	ENSP00000356574:Q685H|.	Q|S	+|+	3|2	2|0	QSOX1|QSOX1	178432606|178432606	0.029000|0.029000	0.19370|0.19370	0.380000|0.380000	0.26093|0.26093	0.114000|0.114000	0.19823|0.19823	-0.390000|-0.390000	0.07332|0.07332	1.024000|1.024000	0.39682|0.39682	0.400000|0.400000	0.26472|0.26472	CAG|AGC	QSOX1	-	NULL	ENSG00000116260		0.672	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	-	0	90	0	G	NM_002826		180165983	1	tier1	-	no_errors	ENST00000367602	ensembl	human	known	74_37	missense	6.67	98	7	SNP	0.535	T	T	180165983	G	T	180165983	3	4	98	1	0	0	0	0	1	0	0	0	12928	962	34	3	2101	3	QSOX1	1	180165983	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	18211261	180165983	69084638	9	28017											
B3GALT2	8707	genome.wustl.edu	37	chr1	193149736	193149736	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgccagatctccagaAaaaacataaccagttccaga	15	10	5	11	0	2	3	0	0	2	3	4	3	3	3	4	0	3	1	4	0	4	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:193149736A>T	ENST00000367434.4	-	2	1712	c.957T>A	c.(955-957)ttT>ttA	p.F319L	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	319					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GATCTCCAGAAAAAACATAAC	0.423																																																	0													79	78	78					1																	193149736		2203	4300	6503	SO:0001583	missense	0			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"Beta 3-glycosyltransferases"	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.957T>A	1.37:g.193149736A>T	ENSP00000356404:p.Phe319Leu		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.F319L	ENST00000367434.4	37	c.957	CCDS1383.1	1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959148	0.34565	.	.	ENSG00000162630	ENST00000367434	D	0.85411	-1.98	5.42	0.592	0.17471	.	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	L	0.31420	0.93	0.58432	D	0.99999	B	0.15141	0.012	B	0.26969	0.075	T	0.56715	-0.7933	10	0.15066	T	0.55	.	9.0674	0.36471	0.6442:0.0:0.3558:0.0	.	319	O43825	B3GT2_HUMAN	L	319	ENSP00000356404:F319L	ENSP00000356404:F319L	F	-	3	2	B3GALT2	191416359	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.075000	0.30716	0.059000	0.16252	-0.297000	0.09499	TTT	B3GALT2	-	pfam_Glyco_trans_31	ENSG00000162630		0.423	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT2	HGNC	protein_coding	OTTHUMT00000086759.1	-	0	49	0	A	NM_003783		193149736	-1	tier1	-	no_errors	ENST00000367434	ensembl	human	known	74_37	missense	36.84	48	28	SNP	1.000	T	T	193149736	A	T	193149736	3	4	98	1	0	0	0	0	1	0	0	0	1249	11	1	5	315	5	B3GALT2	1	193149736	Missense_Mutation	SNP	A	TCGA-LN-A49K-01A-11D-A247-09	12983753	193149736	56100885	10	28018											
TP53BP2	7159	genome.wustl.edu	37	chr1	223983606	223983606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctccccagatgggtatgGtgggggtgggtatggagggt	6	9	21	5	0	0	1	0	0	0	1	1	2	1	2	2	8	0	3	2	8	2	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr1:223983606G>T	ENST00000343537.7	-	13	2926	c.2635C>A	c.(2635-2637)Cca>Aca	p.P879T	TP53BP2_ENST00000391879.2_Missense_Mutation_p.P112T|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.P750T	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	873	Mediates interaction with APC2.|Pro-rich.				cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GATGGGTATGGTGGGGGTGGG	0.562																																																	0													68	75	73					1																	223983606		2203	4300	6503	SO:0001583	missense	0			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Ankyrin repeat domain containing"	12000	protein-coding gene	gene with protein product		602143	"tumor protein p53-binding protein, 2"			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2635C>A	1.37:g.223983606G>T	ENSP00000341957:p.Pro879Thr		B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.P879T	ENST00000343537.7	37	c.2635	CCDS44319.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.66|17.66	3.443479|3.443479	0.63067|0.63067	.|.	.|.	ENSG00000143514|ENSG00000143514	ENST00000391878;ENST00000343537;ENST00000391879|ENST00000494100	T;T;T|.	0.43294|.	2.19;0.95;2.19|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Src homology-3 domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77075|0.77075	0.4077|0.4077	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.85130|.	0.997;0.997|.	T|T	0.76710|0.76710	-0.2859|-0.2859	10|5	0.59425|.	D|.	0.04|.	.|.	19.1101|19.1101	0.93313|0.93313	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	879;873|.	B4DG66;Q13625|.	.;ASPP2_HUMAN|.	T|N	750;879;112|212	ENSP00000375750:P750T;ENSP00000341957:P879T;ENSP00000375751:P112T|.	ENSP00000341957:P879T|.	P|T	-|-	1|2	0|0	TP53BP2|TP53BP2	222050229|222050229	1.000000|1.000000	0.71417|0.71417	0.156000|0.156000	0.22583|0.22583	0.322000|0.322000	0.28314|0.28314	9.230000|9.230000	0.95299|0.95299	2.531000|2.531000	0.85337|0.85337	0.563000|0.563000	0.77884|0.77884	CCA|ACC	TP53BP2	-	superfamily_SH3_domain	ENSG00000143514		0.562	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	HGNC	protein_coding	OTTHUMT00000090985.3	-	0	41	0	G	NM_001031685, NM_005426		223983606	-1	tier1	-	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	17.44	71	15	SNP	1.000	T	T	223983606	G	T	223983606	3	4	98	1	0	0	0	0	1	0	0	0	16432	1261	44	3	793	3	TP53BP2	1	223983606	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	30833870	223983606	25267015	11	28019											
SPTBN1	6711	genome.wustl.edu	37	chr2	54858121	54858121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaccaaggtcatcgaGtccacccaggacctgggcaa	14	4	11	12	1	1	1	1	0	0	1	3	4	2	2	4	3	0	1	4	3	4	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:54858121G>T	ENST00000356805.4	+	16	3218	c.2937G>T	c.(2935-2937)gaG>gaT	p.E979D	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E966D	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	979					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGTCATCGAGTCCACCCAGG	0.582																																																	0													60	59	59					2																	54858121		2203	4300	6503	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"Pleckstrin homology (PH) domain containing"	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2937G>T	2.37:g.54858121G>T	ENSP00000349259:p.Glu979Asp		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E979D	ENST00000356805.4	37	c.2937	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870367	0.72065	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.70631	-0.5;1.33	5.28	-3.04	0.05412	.	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.64676	1.99	0.41058	D	0.985351	B;B	0.29232	0.105;0.238	B;B	0.36244	0.14;0.22	T	0.60611	-0.7229	10	0.59425	D	0.04	.	11.8564	0.52439	0.6467:0.0:0.3533:0.0	.	966;979	Q01082-3;Q01082	.;SPTB2_HUMAN	D	979;966	ENSP00000349259:E979D;ENSP00000334156:E966D	ENSP00000334156:E966D	E	+	3	2	SPTBN1	54711625	1.000000	0.71417	0.970000	0.41538	0.996000	0.88848	0.733000	0.26087	-0.565000	0.06061	0.655000	0.94253	GAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.582	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3		0	21	0	G			54858121	1			no_errors	ENST00000356805	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.998	T	T	54858121	G	T	54858121	3	4	98	1	0	0	0	0	1	0	0	0	15166	1020	36	3	3108	3	SPTBN1	2	54858121	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		54858121	188341252	12	28020											
CCDC88A	55704	genome.wustl.edu	37	chr2	55563852	55563852	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctctcagtgtttctattgTtttttcaagctgagctttct	5	22	6	8	0	5	1	2	1	3	0	6	1	5	1	0	0	2	4	0	0	2	8			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:55563852T>A	ENST00000436346.1	-	14	2462	c.1621A>T	c.(1621-1623)Aca>Tca	p.T541S	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T541S|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T541S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.T541S|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	541					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTTCTATTGTTTTTTCAAGC	0.279																																																	0													74	76	76					2																	55563852		2201	4296	6497	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"Galpha-interacting vesicle-associated protein", "Akt-phosphorylation enhancer", "girdin", "girders of actin filaments"	609736	"KIAA1212"	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1621A>T	2.37:g.55563852T>A	ENSP00000410608:p.Thr541Ser		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.T541S	ENST00000436346.1	37	c.1621		2	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748951	0.30955	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.19	5.19	0.71726	.	0.133316	0.33515	U	0.004834	T	0.10895	0.0266	N	0.24115	0.695	0.80722	D	1	B;P;B	0.45902	0.057;0.868;0.155	B;B;B	0.38264	0.11;0.269;0.062	T	0.15263	-1.0443	10	0.10377	T	0.69	-12.6444	15.0407	0.71788	0.0:0.0:0.0:1.0	.	541;541;541	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	S	541	ENSP00000338728:T541S;ENSP00000263630:T541S;ENSP00000410608:T541S;ENSP00000404431:T541S	ENSP00000263630:T541S	T	-	1	0	CCDC88A	55417356	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.982000	0.56909	1.964000	0.57103	0.477000	0.44152	ACA	CCDC88A	-	pfam_Hook-related_fam	ENSG00000115355		0.279	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		-	0	28	0	T	NM_017571		55563852	-1	tier1	-	no_errors	ENST00000436346	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	A	A	55563852	T	A	55563852	3	1	98	1	0	0	0	0	1	0	0	0	2870	1725	60	5	4070	5	CCDC88A	2	55563852	Missense_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	705731	55563852	187635521	13	28021											
CCT7	10574	genome.wustl.edu	37	chr2	73471716	73471716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgccatgaccgctctgaGctccaagctgatctcccagc	7	9	10	15	1	2	3	0	3	2	0	4	3	3	3	4	0	4	3	4	0	1	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:73471716G>T	ENST00000258091.5	+	6	632	c.491G>T	c.(490-492)aGc>aTc	p.S164I	CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_Missense_Mutation_p.S36I|CCT7_ENST00000539919.1_Missense_Mutation_p.S120I|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000537131.1_Missense_Mutation_p.S64I|CCT7_ENST00000540468.1_Missense_Mutation_p.S77I	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	164					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ACCGCTCTGAGCTCCAAGCTG	0.483																																																	0													55	55	55					2																	73471716		2055	4217	6272	SO:0001583	missense	0			AF026292	CCDS42696.1, CCDS46336.1, CCDS54366.1, CCDS54367.1	2p13.2	2011-09-02			ENSG00000135624	ENSG00000135624		"Heat Shock Proteins / Chaperonins"	1622	protein-coding gene	gene with protein product		605140				9819444	Standard	NM_006429		Approved	Ccth, Nip7-1	uc002siz.3	Q99832	OTTHUMG00000152765	ENST00000258091.5:c.491G>T	2.37:g.73471716G>T	ENSP00000258091:p.Ser164Ile		A8K7E6|A8MWI8|B7WNW9|B7Z4T9|B7Z4Z7|O14871|Q6FI26	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta	p.S164I	ENST00000258091.5	37	c.491	CCDS46336.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231880	0.79688	.	.	ENSG00000135624	ENST00000540468;ENST00000539919;ENST00000258091;ENST00000537131;ENST00000538797;ENST00000409081	T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37	4.75	4.75	0.60458	.	0.130749	0.64402	D	0.000002	D	0.90363	0.6984	M	0.90369	3.11	0.54753	D	0.999986	P;P;P;P;P	0.52463	0.762;0.953;0.502;0.94;0.929	P;P;B;P;P	0.61658	0.489;0.804;0.371;0.892;0.84	D	0.92183	0.5753	10	0.87932	D	0	-11.1849	15.6389	0.76981	0.0:0.0:1.0:0.0	.	77;36;64;122;164	B7Z4Z7;B7Z1C9;F5GZK5;B8ZZC9;Q99832	.;.;.;.;TCPH_HUMAN	I	77;120;164;64;36;122	ENSP00000442058:S77I;ENSP00000437824:S120I;ENSP00000258091:S164I;ENSP00000444379:S64I;ENSP00000438462:S36I	ENSP00000258091:S164I	S	+	2	0	CCT7	73325224	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.853000	0.69496	2.632000	0.89209	0.563000	0.77884	AGC	CCT7	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta	ENSG00000135624		0.483	CCT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT7	HGNC	protein_coding	OTTHUMT00000327714.2	-	0	39	0	G			73471716	1	tier1	-	no_errors	ENST00000258091	ensembl	human	known	74_37	missense	33.33	44	22	SNP	1.000	T	T	73471716	G	T	73471716	3	4	98	1	0	0	0	0	1	0	0	0	2966	971	34	3	513	3	CCT7	2	73471716	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	17907864	73471716	169727657	14	28022											
TMEM37	6344	genome.wustl.edu	37	chr2	120194908	120194908	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggaaccaagtcacactCatcggcttcaccctaatgtt	11	10	6	14	1	4	0	4	0	0	0	5	1	4	1	2	2	1	2	2	2	3	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:120194908C>T	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Silent_p.L167L|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Silent_p.L155L	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AAGTCACACTCATCGGCTTCA	0.557																																																	0													204	213	210					2																	120194908		2203	4300	6503	SO:0001628	intergenic_variant	0				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194908C>T			Q12961|Q13213|Q53T00	Silent	SNP	NULL	p.L155	ENST00000019103.5	37	c.465	CCDS2127.1	2																																																																																			TMEM37	-	NULL	ENSG00000171227		0.557	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM37	HGNC	protein_coding	OTTHUMT00000254198.2	-	0	47	0	C			120194908	1	tier1	-	no_errors	ENST00000306406	ensembl	human	known	74_37	silent	28.92	59	24	SNP	0.553	T	T	120194908	C	T	120194908	1	4	98	0	1	0	0	0	0	0	0	0	16205	813	29	3		3	TMEM37	2	120194908	IGR	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	46723192	120194908	123004465	15	28023											
LRP2	4036	genome.wustl.edu	37	chr2	170030640	170030640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatgcaacgtttgttggcGcactgccattcattggagtc	7	12	13	9	2	1	0	1	0	0	0	2	2	1	2	1	3	3	4	1	3	1	4	rs370876114		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:170030640G>A	ENST00000263816.3	-	56	11088	c.10803C>T	c.(10801-10803)tgC>tgT	p.C3601C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3601	LDL-receptor class A 28. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.C3601C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTTTGTTGGCGCACTGCCATT	0.478																																																	1	Substitution - coding silent(1)	breast(1)						A		0,4406		0,0,2203	97	81	86		10803	-4.9	0.9	2		86	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	LRP2	NM_004525.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		3601/4656	170030640	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.10803C>T	2.37:g.170030640G>A			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.C3601	ENST00000263816.3	37	c.10803	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	44	0	G	NM_004525		170030640	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	28.42	68	27	SNP	0.975	A	A	170030640	G	A	170030640	2	1	98	1	0	0	0	0	0	0	0	1	8991	1079	38	1		1	LRP2	2	170030640	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	49835732	170030640	73168733	16	28024											
TTN	7273	genome.wustl.edu	37	chr2	179606443	179606443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaatgacagttacagaCagtgtagccacatcccccat	13	8	7	13	0	0	2	0	1	0	1	1	2	1	2	4	0	3	2	4	0	3	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:179606443C>T	ENST00000591111.1	-	46	10790	c.10566G>A	c.(10564-10566)ctG>ctA	p.L3522L	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L3476L|TTN_ENST00000359218.5_Silent_p.L3601L|TTN_ENST00000342175.6_Silent_p.L3668L|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Silent_p.L3839L|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13859	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTACAGACAGTGTAGCCA	0.408																																																	0													100	98	99					2																	179606443		1906	4121	6027	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10566G>A	2.37:g.179606443C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L3668	ENST00000591111.1	37	c.11004		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	27	0	C	NM_133378		179606443	-1	tier1	-	no_errors	ENST00000342175	ensembl	human	known	74_37	silent	9.43	48	5	SNP	0.984	T	T	179606443	C	T	179606443	2	4	98	1	0	0	0	0	0	0	0	1	16784	465	17	3		3	TTN	2	179606443	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	9575803	179606443	63592930	17	28025											
CUL3	8452	genome.wustl.edu	37	chr2	225422486	225422486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagagctcctcaaaactaaGaccactgttattcttacgct	13	12	5	11	1	2	2	1	0	1	2	3	2	3	2	2	0	3	3	2	0	6	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:225422486G>A	ENST00000264414.4	-	2	492	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F	CUL3_ENST00000409777.1_Missense_Mutation_p.L28F|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.L28F|CUL3_ENST00000344951.4_Intron	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	52					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAAACTAAGACCACTGTTA	0.358																																																	0													99	97	97					2																	225422486		2202	4296	6498	SO:0001583	missense	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.154C>T	2.37:g.225422486G>A	ENSP00000264414:p.Leu52Phe		A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L52F	ENST00000264414.4	37	c.154	CCDS2462.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.106331|4.106331	0.77096|0.77096	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000264414;ENST00000409096;ENST00000409777|ENST00000436172	T;T;T|.	0.75821|.	-0.97;-0.97;-0.97|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.75642|0.75642	0.3877|0.3877	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.76358|0.76358	-0.2988|-0.2988	10|5	0.42905|.	T|.	0.14|.	.|.	13.1355|13.1355	0.59407|0.59407	0.0733:0.0:0.9267:0.0|0.0733:0.0:0.9267:0.0	.|.	30;52|.	Q53S54;Q13618|.	.;CUL3_HUMAN|.	F|F	52;28;28|72	ENSP00000264414:L52F;ENSP00000387200:L28F;ENSP00000386525:L28F|.	ENSP00000264414:L52F|.	L|S	-|-	1|2	0|0	CUL3|CUL3	225130730|225130730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.913000|7.913000	0.87471|0.87471	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	CTT|TCT	CUL3	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000036257		0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	-	0	49	0	G			225422486	-1	tier1	-	no_errors	ENST00000264414	ensembl	human	known	74_37	missense	48.78	21	20	SNP	1.000	A	A	225422486	G	A	225422486	3	1	98	1	0	0	0	0	1	0	0	0	4065	942	33	3	2212	3	CUL3	2	225422486	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	45816043	225422486	17776887	18	28026											
SP140L	93349	genome.wustl.edu	37	chr2	231223688	231223688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttttaaaggattctgaaGattcttgtagaaacctggtc	12	16	8	5	0	2	3	0	1	2	2	3	4	2	4	1	2	1	1	1	2	6	8			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:231223688G>A	ENST00000415673.2	+	4	366	c.280G>A	c.(280-282)Gat>Aat	p.D94N	SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000243810.6_Missense_Mutation_p.D94N|SP140L_ENST00000444636.1_Missense_Mutation_p.D94N|SP140L_ENST00000458341.1_Missense_Mutation_p.D7N|SP140L_ENST00000396563.4_Missense_Mutation_p.D94N	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	94	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGATTCTGAAGATTCTTGTAG	0.343																																																	0													95	103	100					2																	231223688		2202	4300	6502	SO:0001583	missense	0			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.280G>A	2.37:g.231223688G>A	ENSP00000397911:p.Asp94Asn		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.D94N	ENST00000415673.2	37	c.280	CCDS46538.1	2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244062	0.59103	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563;ENST00000458341	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	2.96	2.96	0.34315	.	.	.	.	.	D	0.95674	0.8593	M	0.64997	1.995	0.21675	N	0.999599	D;D	0.76494	0.999;0.996	D;P	0.74348	0.983;0.824	D	0.88392	0.3009	9	0.33141	T	0.24	.	9.6203	0.39716	0.0:0.0:1.0:0.0	.	7;94	Q9H930-3;Q9H930-4	.;.	N	94;94;94;94;7	ENSP00000395195:D94N;ENSP00000397911:D94N;ENSP00000243810:D94N;ENSP00000379811:D94N;ENSP00000395223:D7N	ENSP00000243810:D94N	D	+	1	0	SP140L	230931932	0.921000	0.31238	0.340000	0.25575	0.920000	0.55202	2.147000	0.42226	1.949000	0.56562	0.491000	0.48974	GAT	SP140L	-	pfam_Sp100	ENSG00000185404		0.343	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SP140L	HGNC	protein_coding	OTTHUMT00000374538.1	-	0	40	0	G	NM_138402		231223688	1	tier1	-	no_errors	ENST00000415673	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.460	A	A	231223688	G	A	231223688	3	1	98	1	0	0	0	0	1	0	0	0	15008	942	33	3	294	3	SP140L	2	231223688	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	5801202	231223688	11975685	19	28027											
HDAC4	9759	genome.wustl.edu	37	chr2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcaagggagccggacGaacacggaggcgagcgagcc	11	0	16	14	6	0	0	0	0	0	0	0	6	0	3	4	4	4	1	4	4	2	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77	85	82					2																	240016733		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0	45	0	G	NM_006037		240016733	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	9.84	54	6	SNP	0.191	T	T	240016733	G	T	240016733	3	4	98	1	0	0	0	0	1	0	0	0	7036	1049	37	2	1060	2	HDAC4	2	240016733	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	8793045	240016733	3182640	20	28028											
MTMR14	64419	genome.wustl.edu	37	chr3	9731787	9731787	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaccattctgataactttTtcaggatgggtagcagtccc	11	12	8	10	0	2	1	1	1	1	0	3	2	3	2	2	2	3	2	2	2	3	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr3:9731787T>A	ENST00000296003.4	+	17	1695	c.1573T>A	c.(1573-1575)Ttc>Atc	p.F525I	MTMR14_ENST00000353332.5_Missense_Mutation_p.F525I|MTMR14_ENST00000351233.5_Intron|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	525					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGATAACTTTTTCAGGATGGG	0.567																																																	0													36	39	38					3																	9731787		1869	4093	5962	SO:0001583	missense	0			BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	26190	protein-coding gene	gene with protein product	"egg-derived tyrosine phosphatase homolog (Drosophila)"	611089	"chromosome 3 open reading frame 29"	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.1573T>A	3.37:g.9731787T>A	ENSP00000296003:p.Phe525Ile		Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Missense_Mutation	SNP	NULL	p.F525I	ENST00000296003.4	37	c.1573	CCDS43043.1	3	.	.	.	.	.	.	.	.	.	.	T	14.26	2.481395	0.44147	.	.	ENSG00000163719	ENST00000353332;ENST00000296003	T	0.23950	1.88	5.65	5.65	0.86999	.	0.367041	0.31734	N	0.007152	T	0.22781	0.0550	L	0.54323	1.7	0.80722	D	1	B;B	0.28933	0.228;0.146	B;B	0.30855	0.121;0.024	T	0.07290	-1.0780	10	0.18276	T	0.48	-7.8488	8.0316	0.30467	0.0:0.1555:0.0:0.8445	.	525;525	Q8NCE2-2;Q8NCE2	.;MTMRE_HUMAN	I	525	ENSP00000296003:F525I	ENSP00000296003:F525I	F	+	1	0	MTMR14	9706787	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.563000	0.36364	2.146000	0.66826	0.533000	0.62120	TTC	MTMR14	-	NULL	ENSG00000163719		0.567	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR14	HGNC	protein_coding	OTTHUMT00000338435.1	-	0	41	0	T	NM_022485		9731787	1	tier1	-	no_errors	ENST00000296003	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.995	A	A	9731787	T	A	9731787	3	1	98	1	0	0	0	0	1	0	0	0	9980	1841	64	5	1639	5	MTMR14	3	9731787	Missense_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09		9731787	188290643	21	28029											
SCN11A	11280	genome.wustl.edu	37	chr3	38962700	38962700	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggataatcacgttgacCagcttcttcacagagcgtag	11	10	11	9	2	3	3	2	2	1	1	3	4	3	4	1	1	2	3	1	1	2	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr3:38962700C>A	ENST00000302328.3	-	6	957	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SCN11A_ENST00000456224.3_Silent_p.L253L|SCN11A_ENST00000450244.1_Silent_p.L253L|SCN11A_ENST00000444237.2_Silent_p.L253L	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	253					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACGTTGACCAGCTTCTTCA	0.542																																																	0													138	133	134					3																	38962700		2203	4300	6503	SO:0001819	synonymous_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.759G>T	3.37:g.38962700C>A			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L253	ENST00000302328.3	37	c.759	CCDS33737.1	3																																																																																			SCN11A	-	pfam_Ion_trans_dom	ENSG00000168356		0.542	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0	18	0	C	NM_014139		38962700	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	silent	21.05	15	4	SNP	0.000	A	A	38962700	C	A	38962700	2	1	98	1	0	0	0	0	0	0	0	1	13958	581	21	3		3	SCN11A	3	38962700	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	29230913	38962700	159059730	22	28030											
SPATA16	83893	genome.wustl.edu	37	chr3	172643275	172643275	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggcaacatgtggagtgcTtgaagatctgaaatatgaca	14	10	12	5	0	1	5	0	4	1	1	1	6	1	6	0	2	2	2	0	2	4	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr3:172643275T>C	ENST00000351008.3	-	7	1272	c.1089A>G	c.(1087-1089)caA>caG	p.Q363Q		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	363					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTGGAGTGCTTGAAGATCTG	0.378																																																	0													81	79	80					3																	172643275		2203	4300	6503	SO:0001819	synonymous_variant	0			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1089A>G	3.37:g.172643275T>C			Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	NULL	p.Q363	ENST00000351008.3	37	c.1089	CCDS3221.1	3																																																																																			SPATA16	-	NULL	ENSG00000144962		0.378	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	-	0	55	0	T	NM_031955		172643275	-1	tier1	-	no_errors	ENST00000351008	ensembl	human	known	74_37	silent	23.58	81	25	SNP	0.958	C	C	172643275	T	C	172643275	2	2	98	1	0	0	0	0	0	0	0	1	15048	1606	56	4		4	SPATA16	3	172643275	Silent	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	133680575	172643275	25379155	23	28031											
CCDC39	339829	genome.wustl.edu	37	chr3	180369978	180369978	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttcatgaatgtccttcTttatcttggaaatatttttc	8	22	4	7	0	4	1	1	1	3	0	6	2	5	2	1	1	0	0	1	1	4	9			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr3:180369978T>A	ENST00000442201.2	-	8	1126	c.1007A>T	c.(1006-1008)aAg>aTg	p.K336M	CCDC39_ENST00000273654.4_Missense_Mutation_p.K420M	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	336					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AATGTCCTTCTTTATCTTGGA	0.269																																																	0													35	32	33					3																	180369978		1716	3877	5593	SO:0001583	missense	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1007A>T	3.37:g.180369978T>A	ENSP00000405708:p.Lys336Met		B4E2H1	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K336M	ENST00000442201.2	37	c.1007	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	T	18.95	3.730967	0.69074	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.79033	-1.23;-1.23	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.85252	0.5654	L	0.61036	1.89	0.45580	D	0.998525	D	0.89917	1.0	D	0.83275	0.996	D	0.86420	0.1754	10	0.66056	D	0.02	-21.2062	12.295	0.54840	0.0:0.0:0.0:1.0	.	336	Q9UFE4	CCD39_HUMAN	M	420;336	ENSP00000273654:K420M;ENSP00000405708:K336M	ENSP00000273654:K420M	K	-	2	0	CCDC39	181852672	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.539000	0.73856	1.838000	0.53458	0.528000	0.53228	AAG	CCDC39	-	NULL	ENSG00000145075		0.269	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0	42	0	T	XM_291028		180369978	-1	tier1	-	no_errors	ENST00000442201	ensembl	human	known	74_37	missense	8.57	64	6	SNP	1.000	A	A	180369978	T	A	180369978	3	1	98	1	0	0	0	0	1	0	0	0	2818	1609	56	5	1870	5	CCDC39	3	180369978	Missense_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	7726703	180369978	17652452	24	28032											
LRIT3	345193	genome.wustl.edu	37	chr4	110789009	110789009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaaatcatgtctgctctgGgcagtaatgttctactgcgg	9	12	10	10	1	4	0	1	0	3	0	4	0	4	0	1	2	3	4	1	2	4	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr4:110789009G>T	ENST00000594814.1	+	3	802	c.802G>T	c.(802-804)Ggc>Tgc	p.G268C	LRIT3_ENST00000327908.3_Missense_Mutation_p.G85C|LRIT3_ENST00000409621.2_Missense_Mutation_p.G85C|LRIT3_ENST00000379920.3_Missense_Mutation_p.G223C	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	268	Ig-like.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GTCTGCTCTGGGCAGTAATGT	0.493																																																	0													116	106	109					4																	110789009		2203	4300	6503	SO:0001583	missense	0			AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"Immunoglobulin superfamily / I-set domain containing"	24783	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 4"	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.802G>T	4.37:g.110789009G>T	ENSP00000469759:p.Gly268Cys		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G268C	ENST00000594814.1	37	c.802	CCDS3688.3	4	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903105	0.92035	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	D;D;D	0.81499	-1.5;-1.5;-1.5	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	H	0.99074	4.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96522	0.9386	10	0.87932	D	0	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	223;85	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	C	85;223;85	ENSP00000328222:G85C;ENSP00000369252:G223C;ENSP00000386734:G85C	ENSP00000328222:G85C	G	+	1	0	LRIT3	111008458	1.000000	0.71417	0.977000	0.42913	0.953000	0.61014	9.476000	0.97823	2.789000	0.95967	0.655000	0.94253	GGC	LRIT3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000183423		0.493	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT3	HGNC	protein_coding	OTTHUMT00000335270.2	-	0	32	0	G	NM_198506		110789009	1	tier1	-	no_errors	ENST00000594814	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	110789009	G	T	110789009	3	4	98	1	0	0	0	0	1	0	0	0	8984	1232	43	3	673	3	LRIT3	4	110789009	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		110789009	80365267	25	28033											
C4orf49	84709	genome.wustl.edu	37	chr4	140188162	140188162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctggggcttctgaacttGctttctcagtttccgcaaca	6	15	8	12	1	3	1	1	1	3	0	5	1	4	1	1	2	3	4	1	2	2	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr4:140188162G>T	ENST00000398955.1	-	4	493	c.314C>A	c.(313-315)gCa>gAa	p.A105E		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	105					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											TTCTGAACTTGCTTTCTCAGT	0.428																																																	0													162	152	155					4																	140188162		1896	4121	6017	SO:0001583	missense	0			AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"ovary-specific acidic protein", "corneal endothelium-specific protein 1", "hypoxia up-regulated mitochondrial movement regulator"		"chromosome 4 open reading frame 49"	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.314C>A	4.37:g.140188162G>T	ENSP00000381928:p.Ala105Glu		Q9BZC3	Missense_Mutation	SNP	NULL	p.A105E	ENST00000398955.1	37	c.314	CCDS43269.1	4	.	.	.	.	.	.	.	.	.	.	G	9.648	1.140734	0.21205	.	.	ENSG00000137463	ENST00000398955	T	0.57595	0.39	5.43	2.63	0.31362	.	0.589319	0.16282	N	0.221312	T	0.44329	0.1288	L	0.54323	1.7	0.20074	N	0.999933	B	0.14012	0.009	B	0.14578	0.011	T	0.37314	-0.9711	10	0.46703	T	0.11	-12.7643	6.712	0.23282	0.0843:0.0:0.6068:0.3089	.	105	Q8TDB4	CD049_HUMAN	E	105	ENSP00000381928:A105E	ENSP00000381928:A105E	A	-	2	0	C4orf49	140407612	0.003000	0.15002	0.001000	0.08648	0.132000	0.20833	0.481000	0.22260	0.205000	0.20568	0.467000	0.42956	GCA	MGARP	-	NULL	ENSG00000137463		0.428	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGARP	HGNC	protein_coding	OTTHUMT00000364536.1	-	0	74	0	G	NM_032623		140188162	-1	tier1	-	no_errors	ENST00000398955	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.010	T	T	140188162	G	T	140188162	3	4	98	1	0	0	0	0	1	0	0	0	2282	1319	46	3	412	3	C4orf49	4	140188162	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	29399153	140188162	50966114	26	28034											
CTNND2	1501	genome.wustl.edu	37	chr5	11082930	11082930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaggcctttctcttttCggacagcggctcggatatat	6	13	12	10	3	1	0	0	0	1	0	4	2	1	2	1	5	1	2	1	5	2	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr5:11082930C>A	ENST00000304623.8	-	16	2855	c.2666G>T	c.(2665-2667)cGa>cTa	p.R889L	CTNND2_ENST00000511377.1_Missense_Mutation_p.R798L|CTNND2_ENST00000458100.2_Missense_Mutation_p.R456L|CTNND2_ENST00000503622.1_Missense_Mutation_p.R552L|CTNND2_ENST00000359640.2_Missense_Mutation_p.R831L|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	889					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTTCTCTTTTCGGACAGCGGC	0.542																																																	0													81	74	76					5																	11082930		2203	4300	6503	SO:0001583	missense	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"Armadillo repeat containing"	2516	protein-coding gene	gene with protein product	"neural plakophilin-related arm-repeat protein"	604275	"catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2666G>T	5.37:g.11082930C>A	ENSP00000307134:p.Arg889Leu		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R889L	ENST00000304623.8	37	c.2666	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.495653	0.96355	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84115	0.5401	M	0.86028	2.79	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	D;D;D	0.85130	0.995;0.995;0.997	D	0.87025	0.2131	10	0.87932	D	0	-8.1838	18.4893	0.90841	0.0:1.0:0.0:0.0	.	552;481;889	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	889;831;798;456;552	ENSP00000307134:R889L;ENSP00000352661:R831L;ENSP00000426510:R798L;ENSP00000391155:R456L;ENSP00000426887:R552L	ENSP00000307134:R889L	R	-	2	0	CTNND2	11135930	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	7.731000	0.84895	2.439000	0.82584	0.563000	0.77884	CGA	CTNND2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169862		0.542	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0	23	0	C	NM_001332		11082930	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	A	A	11082930	C	A	11082930	3	1	98	1	0	0	0	0	1	0	0	0	4029	884	31	2	1039	2	CTNND2	5	11082930	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		11082930	169832330	27	28035											
PARP8	79668	genome.wustl.edu	37	chr5	50093011	50093011	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggatccctgtattaaatGaatattgtgtggtttgtgat	10	16	11	4	1	0	2	0	2	0	0	1	3	1	3	1	2	1	2	1	2	5	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr5:50093011G>T	ENST00000281631.5	+	14	1677	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	PARP8_ENST00000514067.2_Nonsense_Mutation_p.E507*|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Nonsense_Mutation_p.E260*|PARP8_ENST00000505554.1_Nonsense_Mutation_p.E486*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.E507*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.E507*	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	507						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGTATTAAATGAATATTGTGT	0.358																																																	0													129	116	120					5																	50093011		2203	4300	6503	SO:0001587	stop_gained	0			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"Poly (ADP-ribose) polymerases"	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1519G>T	5.37:g.50093011G>T	ENSP00000281631:p.Glu507*		Q3KRB7|Q6DHZ1|Q9H754	Nonsense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E507*	ENST00000281631.5	37	c.1519	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.836549	0.98516	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.4488	19.6213	0.95656	0.0:0.0:1.0:0.0	.	.	.	.	X	507;507;260;507;507;486;260;260	.	.	E	+	1	0	PARP8	50128768	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.655000	0.98512	2.650000	0.89964	0.591000	0.81541	GAA	PARP8	-	NULL	ENSG00000151883		0.358	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	-	0	50	0	G	NM_024615		50093011	1	tier1	-	no_errors	ENST00000281631	ensembl	human	known	74_37	nonsense	8.51	43	4	SNP	1.000	T	T	50093011	G	T	50093011	4	4	98	1	0	0	0	0	0	1	0	0	11504	1291	45	3	1573	3	PARP8	5	50093011	Nonsense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	39010081	50093011	130822249	28	28036											
TRIM23	373	genome.wustl.edu	37	chr5	64905171	64905171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccaaatcaatttttcacGaacatgagcatcaacaacac	17	8	5	11	1	3	1	3	1	0	0	3	3	3	1	1	0	5	1	1	0	5	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr5:64905171G>A	ENST00000231524.9	-	6	1314	c.943C>T	c.(943-945)Cgt>Tgt	p.R315C	TRIM23_ENST00000381018.3_Missense_Mutation_p.R315C|TRIM23_ENST00000508808.1_5'UTR|TRIM23_ENST00000274327.7_Missense_Mutation_p.R315C	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	315					GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		AATTTTTCACGAACATGAGCA	0.413																																																	0													123	113	117					5																	64905171		2203	4300	6503	SO:0001583	missense	0			L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	660	protein-coding gene	gene with protein product		601747	"ADP-ribosylation factor domain protein 1, 64kDa", "tripartite motif-containing 23"	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.943C>T	5.37:g.64905171G>A	ENSP00000231524:p.Arg315Cys		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Znf_B-box,superfamily_P-loop_NTPase,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_Znf_C2H2,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R315C	ENST00000231524.9	37	c.943	CCDS3987.1	5	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910118	0.72983	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	T;T;T	0.75704	-0.88;-0.87;-0.96	5.39	5.39	0.77823	B-box, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.998	D	0.84811	0.0790	10	0.87932	D	0	.	13.5537	0.61747	0.0:0.0:0.7415:0.2585	.	315;315;315	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	C	315	ENSP00000231524:R315C;ENSP00000370406:R315C;ENSP00000274327:R315C	ENSP00000231524:R315C	R	-	1	0	TRIM23	64940927	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.922000	0.40045	2.685000	0.91497	0.655000	0.94253	CGT	TRIM23	-	smart_Bbox_C	ENSG00000113595		0.413	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM23	HGNC	protein_coding	OTTHUMT00000215058.2	-	0	29	0	G	NM_001656		64905171	-1	tier1	-	no_errors	ENST00000231524	ensembl	human	known	74_37	missense	45.00	11	9	SNP	1.000	A	A	64905171	G	A	64905171	3	1	98	1	0	0	0	0	1	0	0	0	16545	1058	37	1	872	1	TRIM23	5	64905171	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	14812160	64905171	116010089	29	28037											
GPR98	84059	genome.wustl.edu	37	chr5	89981640	89981640	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaaggtagaaactattgcGcaactaattatcattgccaa	15	11	6	9	1	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	8	7	rs190981860	byFrequency	TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr5:89981640G>T	ENST00000405460.2	+	29	6414	c.6318G>T	c.(6316-6318)gcG>gcT	p.A2106A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2106					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A2106A(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAACTATTGCGCAACTAATTA	0.413																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											108	96	100					5																	89981640		1906	4125	6031	SO:0001819	synonymous_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6318G>T	5.37:g.89981640G>T			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.A2106	ENST00000405460.2	37	c.6318	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.413	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	29	0	G	NM_032119		89981640	1			no_errors	ENST00000405460	ensembl	human	known	74_37	silent	9.09	20	2	SNP	0.815	T	T	89981640	G	T	89981640	2	4	98	1	0	0	0	0	0	0	0	1	6748	1074	38	2		2	GPR98	5	89981640	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	25076469	89981640	90933620	30	28038											
ZNF608	57507	genome.wustl.edu	37	chr5	123983771	123983771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacagttgttgtgagggagGgcagtccgggtattgtccca	8	10	15	8	1	0	1	0	1	0	0	2	2	2	2	2	3	1	4	2	3	2	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr5:123983771G>T	ENST00000306315.5	-	4	2741	c.2306C>A	c.(2305-2307)cCc>cAc	p.P769H	ZNF608_ENST00000504926.1_Missense_Mutation_p.P342H	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	769							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGTGAGGGAGGGCAGTCCGGG	0.562																																																	0													112	110	110					5																	123983771		2203	4300	6503	SO:0001583	missense	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"Zinc fingers, C2H2-type"	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2306C>A	5.37:g.123983771G>T	ENSP00000307746:p.Pro769His		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	NULL	p.P769H	ENST00000306315.5	37	c.2306	CCDS34219.1	5	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515647	0.64634	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.46451	0.88;0.87	5.89	5.89	0.94794	.	0.058641	0.64402	D	0.000001	T	0.61974	0.2390	L	0.51422	1.61	0.54753	D	0.999986	D	0.89917	1.0	D	0.73380	0.98	T	0.61063	-0.7138	10	0.72032	D	0.01	-19.5839	20.2454	0.98397	0.0:0.0:1.0:0.0	.	769	Q9ULD9	ZN608_HUMAN	H	342;769	ENSP00000427657:P342H;ENSP00000307746:P769H	ENSP00000307746:P769H	P	-	2	0	ZNF608	124011670	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.350000	0.79385	2.791000	0.96007	0.643000	0.83706	CCC	ZNF608	-	NULL	ENSG00000168916		0.562	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1	-	0	43	0	G	XM_114432		123983771	-1	tier1	-	no_errors	ENST00000306315	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	123983771	G	T	123983771	3	4	98	1	0	0	0	0	1	0	0	0	18082	1232	43	3	2256	3	ZNF608	5	123983771	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	34002131	123983771	56931489	31	28039											
KIF3A	11127	genome.wustl.edu	37	chr5	132035914	132035914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtactcttacatctttCtcctttttatcaggtactgg	8	19	5	9	0	4	0	1	0	3	0	5	0	4	0	1	2	3	2	1	2	5	8			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr5:132035914C>A	ENST00000378746.4	-	15	2138	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	KIF3A_ENST00000378735.1_Missense_Mutation_p.E643D|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000487055.1_5'Flank|KIF3A_ENST00000403231.1_Missense_Mutation_p.E667D	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	640					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACATCTTTCTCCTTTTTAT	0.299																																																	0													87	77	80					5																	132035914		2202	4300	6502	SO:0001583	missense	0			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"Kinesins"	6319	protein-coding gene	gene with protein product	"kinesin family protein 3A"	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1920G>T	5.37:g.132035914C>A	ENSP00000368020:p.Glu640Asp		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E643D	ENST00000378746.4	37	c.1929	CCDS34235.1	5	.	.	.	.	.	.	.	.	.	.	C	8.785	0.929220	0.18131	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000450441;ENST00000403231	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	5.92	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.13670	0.0331	N	0.24115	0.695	0.58432	D	0.999994	P;P;P;P	0.52842	0.956;0.956;0.956;0.956	P;P;P;P	0.62184	0.899;0.899;0.899;0.899	T	0.14615	-1.0466	10	0.13108	T	0.6	.	9.8773	0.41211	0.0:0.605:0.0:0.395	.	667;667;640;666	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	D	640;643;667;126;667	ENSP00000368020:E640D;ENSP00000368009:E643D;ENSP00000405619:E126D;ENSP00000385808:E667D	ENSP00000368009:E643D	E	-	3	2	KIF3A	132063813	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.215000	0.32431	0.799000	0.34018	-0.137000	0.14449	GAG	KIF3A	-	NULL	ENSG00000131437		0.299	KIF3A-001	KNOWN	basic|CCDS	protein_coding	KIF3A	HGNC	protein_coding	OTTHUMT00000132788.3	-	0	11	0	C	NM_007054		132035914	-1	tier1	-	no_errors	ENST00000378735	ensembl	human	known	74_37	missense	45.00	11	9	SNP	1.000	A	A	132035914	C	A	132035914	3	1	98	1	0	0	0	0	1	0	0	0	8327	912	32	3	191	3	KIF3A	5	132035914	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	8052143	132035914	48879346	32	28040											
BTN2A2	10385	genome.wustl.edu	37	chr6	26390424	26390424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaagaaagttgaacaagagGaaaaagaaattgcacgtaag	23	5	10	3	1	0	4	0	1	0	3	0	5	0	5	0	1	2	3	0	1	9	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr6:26390424G>A	ENST00000356709.4	+	5	1027	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	BTN2A2_ENST00000469230.1_Missense_Mutation_p.E306K|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E306K|BTN2A2_ENST00000482536.1_Missense_Mutation_p.E96K|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E190K|BTN2A2_ENST00000432533.2_Missense_Mutation_p.E212K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	306					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGAACAAGAGGAAAAAGAAAT	0.348																																																	0													52	54	53					6																	26390424		2203	4300	6503	SO:0001583	missense	0			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Butyrophilins"	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.916G>A	6.37:g.26390424G>A	ENSP00000349143:p.Glu306Lys		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom	p.E306K	ENST00000356709.4	37	c.916	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	.	5.847	0.340399	0.11069	.	.	ENSG00000124508	ENST00000469230;ENST00000490025;ENST00000356709;ENST00000352867;ENST00000482536;ENST00000432533;ENST00000416795;ENST00000495632	T;T;T;T;T;D;T	0.91180	4.06;0.44;1.29;0.93;0.47;-2.8;1.29	3.76	3.76	0.43208	.	0.304500	0.23334	N	0.049320	T	0.80423	0.4620	L	0.52266	1.64	0.21579	N	0.999639	P;P;P;P;P;P;B	0.48089	0.722;0.722;0.888;0.498;0.905;0.722;0.002	B;B;B;B;P;B;B	0.45610	0.114;0.114;0.435;0.115;0.487;0.164;0.004	T	0.72124	-0.4385	10	0.12766	T	0.61	.	11.0483	0.47872	0.0:0.0:1.0:0.0	.	96;96;212;190;306;190;306	B4DE97;E9PH07;B4DQ01;B4E3J1;Q8WVV5-2;A6NM84;Q8WVV5	.;.;.;.;.;.;BT2A2_HUMAN	K	306;101;306;190;96;212;306;32	ENSP00000417472:E306K;ENSP00000418965:E101K;ENSP00000349143:E306K;ENSP00000337117:E190K;ENSP00000419451:E96K;ENSP00000394241:E212K;ENSP00000399308:E306K	ENSP00000337117:E190K	E	+	1	0	BTN2A2	26498403	0.002000	0.14202	0.054000	0.19295	0.063000	0.16089	0.492000	0.22435	1.627000	0.50400	0.467000	0.42956	GAA	BTN2A2	-	NULL	ENSG00000124508		0.348	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1		0	28	0	G			26390424	1			no_errors	ENST00000356709	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.488	A	A	26390424	G	A	26390424	3	1	98	1	0	0	0	0	1	0	0	0	1565	1175	41	3	930	3	BTN2A2	6	26390424	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		26390424	144724643	33	28041											
TRERF1	55809	genome.wustl.edu	37	chr6	42236785	42236785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgagacagcagctggcGgagagcactgtcaggggctc	8	7	15	11	1	2	2	1	1	1	2	3	4	2	2	0	4	3	4	0	4	0	1	rs201248674		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr6:42236785G>A	ENST00000372922.4	-	5	1106	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	TRERF1_ENST00000340840.2_Missense_Mutation_p.R182C|TRERF1_ENST00000541110.1_Missense_Mutation_p.R182C|TRERF1_ENST00000354325.2_Missense_Mutation_p.R182C|TRERF1_ENST00000372917.4_Missense_Mutation_p.R182C	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	182					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGCAGCTGGCGGAGAGCACTG	0.602																																																	0								G	CYS/ARG	0,4406		0,0,2203	64	69	68		544	5.4	1	6		68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRERF1	NM_033502.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	182/1201	42236785	1,13005	2203	4300	6503	SO:0001583	missense	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.544C>T	6.37:g.42236785G>A	ENSP00000362013:p.Arg182Cys		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.R182C	ENST00000372922.4	37	c.544	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872877	0.33069	0.0	1.16E-4	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.21031	2.39;2.03;2.28;2.03;2.04	5.39	5.39	0.77823	.	0.000000	0.56097	D	0.000029	T	0.25531	0.0621	L	0.34521	1.04	0.58432	D	0.999996	D;P;P;D;D	0.89917	0.979;0.751;0.751;1.0;1.0	P;B;B;D;D	0.79108	0.705;0.103;0.103;0.992;0.992	T	0.02132	-1.1208	10	0.87932	D	0	-21.8625	13.2384	0.59983	0.0:0.0:0.7333:0.2667	.	182;182;182;21;21	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	C	182	ENSP00000439689:R182C;ENSP00000362008:R182C;ENSP00000362013:R182C;ENSP00000339438:R182C;ENSP00000346285:R182C	ENSP00000339438:R182C	R	-	1	0	TRERF1	42344763	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.779000	0.38624	2.537000	0.85549	0.462000	0.41574	CGC	TRERF1	-	NULL	ENSG00000124496		0.602	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0	9	0	G	NM_033502		42236785	-1	tier1	rs201248674	no_errors	ENST00000541110	ensembl	human	known	74_37	missense	58.33	10	14	SNP	1.000	A	A	42236785	G	A	42236785	3	1	98	1	0	0	0	0	1	0	0	0	16523	1116	39	1	3114	1	TRERF1	6	42236785	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	15846361	42236785	128878282	34	28042											
LAMA2	3908	genome.wustl.edu	37	chr6	129785573	129785573	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcgagtgctcttctGatgtatcttgccacacgaga	7	16	8	10	2	4	2	0	1	4	1	5	4	4	2	1	0	2	2	1	0	1	6			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr6:129785573G>T	ENST00000421865.2	+	50	7180	c.7131G>T	c.(7129-7131)ctG>ctT	p.L2377L		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2377	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.L2377L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGCTCTTCTGATGTATCTTG	0.423																																																	1	Substitution - coding silent(1)	breast(1)											257	212	227					6																	129785573		2203	4300	6503	SO:0001819	synonymous_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7131G>T	6.37:g.129785573G>T			Q14736|Q5VUM2|Q93022	Silent	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L2377	ENST00000421865.2	37	c.7131	CCDS5138.1	6																																																																																			LAMA2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196569		0.423	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	44	0	G			129785573	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	silent	6.90	54	4	SNP	1.000	T	T	129785573	G	T	129785573	2	4	98	1	0	0	0	0	0	0	0	1	8634	1277	45	3		3	LAMA2	6	129785573	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	87548788	129785573	41329494	35	28043											
TMEM181	57583	genome.wustl.edu	37	chr6	159005076	159005076	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgagttggatcaatcaaaaGgtatggagcttgacattttg	12	14	11	4	0	2	2	2	2	0	0	2	4	2	4	0	3	1	3	0	3	4	6			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr6:159005076G>A	ENST00000367090.3	+	4	681	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	224					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCAATCAAAAGGTATGGAGCT	0.343																																																	0													132	120	124					6																	159005076		1889	4107	5996	SO:0001630	splice_region_variant	0			AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"G protein-coupled receptor 178", "KIAA1423"	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.670+1G>A	6.37:g.159005076G>A			Q5VTU1	Missense_Mutation	SNP	NULL	p.E224K	ENST00000367090.3	37	c.670	CCDS43520.1	6	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872198	0.51695	.	.	ENSG00000146433	ENST00000314630;ENST00000367090	.	.	.	5.62	5.62	0.85841	.	0.392170	0.28403	N	0.015477	T	0.41994	0.1183	L	0.36672	1.1	0.80722	D	1	B;B	0.17465	0.012;0.022	B;B	0.15484	0.013;0.013	T	0.30794	-0.9966	9	0.42905	T	0.14	.	17.1838	0.86861	0.0:0.0:1.0:0.0	.	224;135	Q9P2C4;Q8N4V6	TM181_HUMAN;.	K	131;224	.	ENSP00000323755:E131K	E	+	1	0	TMEM181	158925064	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	5.605000	0.67634	2.648000	0.89879	0.650000	0.86243	GAA	TMEM181	-	NULL	ENSG00000146433		0.343	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM181	HGNC	protein_coding	OTTHUMT00000042873.1	-	0	31	0	G	NM_020823	Missense_Mutation	159005076	1	tier1	-	no_errors	ENST00000367090	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A	A	159005076	G	A	159005076	5	1	98	1	0	0	0	0	0	0	1	0	16147	1014	35	3	684	3	TMEM181	6	159005076	Splice_Site	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	29219503	159005076	12109991	36	28044											
NFE2L3	9603	genome.wustl.edu	37	chr7	26224292	26224292	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttgctttgtcccaacaAtacatttagaagagatccaa	14	12	5	10	0	1	2	0	0	1	2	3	3	3	2	2	0	3	1	2	0	6	5	rs143091809		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:26224292A>G	ENST00000056233.3	+	4	1233	c.974A>G	c.(973-975)aAt>aGt	p.N325S		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	325					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGTCCCAACAATACATTTAGA	0.418																																																	0													109	98	102					7																	26224292		2203	4300	6503	SO:0001583	missense	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.974A>G	7.37:g.26224292A>G	ENSP00000056233:p.Asn325Ser		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.N325S	ENST00000056233.3	37	c.974	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	A	5.103	0.204557	0.09704	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.29142	1.58	3.89	-2.88	0.05682	.	1.311320	0.04767	N	0.427464	T	0.25494	0.0620	L	0.60455	1.87	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.20974	-1.0259	10	0.31617	T	0.26	-0.9675	2.998	0.06004	0.2501:0.2377:0.3955:0.1167	.	325	Q9Y4A8	NF2L3_HUMAN	S	325;31	ENSP00000056233:N325S	ENSP00000056233:N325S	N	+	2	0	NFE2L3	26190817	0.004000	0.15560	0.432000	0.26747	0.756000	0.42949	0.061000	0.14366	-0.551000	0.06175	0.383000	0.25322	AAT	NFE2L3	-	NULL	ENSG00000050344		0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0	39	0	A			26224292	1	tier1	rs143091809	no_errors	ENST00000056233	ensembl	human	known	74_37	missense	10.91	49	6	SNP	0.000	G	G	26224292	A	G	26224292	3	3	98	1	0	0	0	0	1	0	0	0	10408	101	4	4	988	4	NFE2L3	7	26224292	Missense_Mutation	SNP	A	TCGA-LN-A49K-01A-11D-A247-09		26224292	132914371	37	28045											
NFE2L3	9603	genome.wustl.edu	37	chr7	26224313	26224313	+	Missense_Mutation	SNP	C	C	T																															tacatttagaagagatccaaCagcaaggacttcacagtcac																								rs147199325		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:26224313C>T	ENST00000056233.3	+	4	1254	c.995C>T	c.(994-996)aCa>aTa	p.T332I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	332					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGAGATCCAACAGCAAGGACT	0.408																																																	0													108	96	100					7																	26224313		2203	4300	6503	SO:0001583	missense	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.995C>T	7.37:g.26224313C>T	ENSP00000056233:p.Thr332Ile		Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.T332I	ENST00000056233.3	37	c.995	CCDS5396.1	7	.	.	.	.	.	.	.	.	.	.	c	0.830	-0.745584	0.03065	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.31247	1.5	4.63	-5.14	0.02875	.	1.593220	0.03300	N	0.188821	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	10	0.38643	T	0.18	1.2662	4.7543	0.13075	0.1048:0.4831:0.2352:0.177	.	332	Q9Y4A8	NF2L3_HUMAN	I	332;38	ENSP00000056233:T332I	ENSP00000056233:T332I	T	+	2	0	NFE2L3	26190838	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.396000	0.07278	-0.575000	0.05982	-1.912000	0.00520	ACA	NFE2L3	-	NULL	ENSG00000050344		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0	30	0	C			26224313	1	tier1	rs147199325	no_errors	ENST00000056233	ensembl	human	known	74_37	missense	12.90	54	8	SNP	0.000	T	T	26224313	C	T	26224313	3	4	98	1	0	0	0	0	1	0	0	0	10408	478	17	3	1009	3	NFE2L3	7	26224313	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	21	26224313	132914350	38	28046	104	2									
NFE2L3	9603	genome.wustl.edu	37	chr7	26224323	26224323	+	Silent	SNP	T	T	C																															agagatccaacagcaaggacTtcacagtcacaagaaccatt																								rs113074870		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:26224323T>C	ENST00000056233.3	+	4	1264	c.1005T>C	c.(1003-1005)acT>acC	p.T335T		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	335					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAGCAAGGACTTCACAGTCAC	0.418																																																	0													108	96	100					7																	26224323		2203	4300	6503	SO:0001819	synonymous_variant	0			AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"basic leucine zipper proteins"	7783	protein-coding gene	gene with protein product		604135	"nuclear factor (erythroid-derived 2)-like 3"			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1005T>C	7.37:g.26224323T>C			Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Silent	SNP	pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.T335	ENST00000056233.3	37	c.1005	CCDS5396.1	7																																																																																			NFE2L3	-	NULL	ENSG00000050344		0.418	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L3	HGNC	protein_coding	OTTHUMT00000214088.1	-	0	28	0	T			26224323	1	tier1	rs113074870	no_errors	ENST00000056233	ensembl	human	known	74_37	silent	16.95	49	10	SNP	0.002	C	C	26224323	T	C	26224323	2	2	98	1	0	0	0	0	0	0	0	1	10408	1596	56	4		4	NFE2L3	7	26224323	Silent	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	10	26224323	132914340	39	28047	104	2									
AMPH	273	genome.wustl.edu	37	chr7	38502672	38502672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggtgaaggctcctcaGgcggtgatggtgtctttgca	6	10	18	7	1	2	2	1	2	1	0	3	3	3	3	1	7	1	2	1	7	1	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:38502672G>A	ENST00000356264.2	-	10	1006	c.791C>T	c.(790-792)cCt>cTt	p.P264L	AMPH_ENST00000325590.5_Missense_Mutation_p.P264L|AMPH_ENST00000428293.2_Missense_Mutation_p.P264L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	264					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGGCTCCTCAGGCGGTGATGG	0.557																																																	0													162	152	156					7																	38502672		2203	4300	6503	SO:0001583	missense	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)", "amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.791C>T	7.37:g.38502672G>A	ENSP00000348602:p.Pro264Leu		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.P264L	ENST00000356264.2	37	c.791	CCDS5456.1	7	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140643	0.77775	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.44881	0.91;0.91;0.91	6.04	6.04	0.98038	.	0.103160	0.64402	D	0.000002	T	0.66247	0.2770	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.984;0.981;0.999	T	0.64334	-0.6432	10	0.59425	D	0.04	-16.7501	20.5792	0.99380	0.0:0.0:1.0:0.0	.	264;264;20	P49418-2;P49418;Q8NFL4	.;AMPH_HUMAN;.	L	264;264;264;34;267	ENSP00000317441:P264L;ENSP00000348602:P264L;ENSP00000390734:P264L	ENSP00000317441:P264L	P	-	2	0	AMPH	38469197	1.000000	0.71417	0.348000	0.25681	0.500000	0.33767	7.960000	0.87893	2.873000	0.98535	0.561000	0.74099	CCT	AMPH	-	NULL	ENSG00000078053		0.557	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0	58	0	G	NM_001635		38502672	-1	tier1	-	no_errors	ENST00000356264	ensembl	human	known	74_37	missense	6.59	85	6	SNP	0.992	A	A	38502672	G	A	38502672	3	1	98	1	0	0	0	0	1	0	0	0	588	1000	35	3	1344	3	AMPH	7	38502672	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	12278349	38502672	120635991	40	28048											
OGDH	4967	genome.wustl.edu	37	chr7	44736644	44736644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggctgagcggccaggacGtggagcggggcacattcagg	7	6	18	10	4	1	1	1	1	0	0	2	3	1	3	1	7	2	2	1	7	0	2	rs139641350		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:44736644G>A	ENST00000222673.5	+	15	2074	c.2032G>A	c.(2032-2034)Gtg>Atg	p.V678M	OGDH_ENST00000449767.1_Missense_Mutation_p.V674M|OGDH_ENST00000444676.1_Missense_Mutation_p.V693M|OGDH_ENST00000439616.2_Missense_Mutation_p.V528M|OGDH_ENST00000543843.1_Missense_Mutation_p.V629M|OGDH_ENST00000447398.1_Missense_Mutation_p.V689M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	678					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	CGGCCAGGACGTGGAGCGGGG	0.557																																																	0								G	MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	98	78	85		2020,2032	5.1	1	7	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense	OGDH	NM_001165036.1,NM_002541.3	21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	674/1020,678/1024	44736644	1,13005	2203	4300	6503	SO:0001583	missense	0			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2032G>A	7.37:g.44736644G>A	ENSP00000222673:p.Val678Met		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.V678M	ENST00000222673.5	37	c.2032	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869070	0.91587	2.27E-4	0.0	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	5.13	5.13	0.70059	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	H	0.96633	3.855	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.98786	1.0734	10	0.87932	D	0	-25.9355	18.3765	0.90437	0.0:0.0:1.0:0.0	.	473;528;674;689;580;678	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	M	528;674;689;693;678;629	ENSP00000398576:V528M;ENSP00000392878:V674M;ENSP00000388183:V689M;ENSP00000414662:V693M;ENSP00000222673:V678M;ENSP00000443821:V629M	ENSP00000222673:V678M	V	+	1	0	OGDH	44703169	1.000000	0.71417	0.963000	0.40424	0.985000	0.73830	9.548000	0.98103	2.642000	0.89623	0.650000	0.86243	GTG	OGDH	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000105953		0.557	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	-	0	59	0	G			44736644	1	tier1	rs139641350	no_errors	ENST00000222673	ensembl	human	known	74_37	missense	32.26	63	30	SNP	1.000	A	A	44736644	G	A	44736644	3	1	98	1	0	0	0	0	1	0	0	0	10878	1145	40	1	2259	1	OGDH	7	44736644	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	6233972	44736644	114402019	41	28049											
CASD1	64921	genome.wustl.edu	37	chr7	94174972	94174972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcatggtcatatatgttaCtttagcactatggccacaaa	12	14	7	8	0	2	0	2	0	0	0	2	0	2	0	1	2	2	3	1	2	6	7			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:94174972C>G	ENST00000297273.4	+	12	1879	c.1592C>G	c.(1591-1593)aCt>aGt	p.T531S		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	531						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATATATGTTACTTTAGCACTA	0.313																																																	0													153	129	137					7																	94174972		2203	4300	6503	SO:0001583	missense	0			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1592C>G	7.37:g.94174972C>G	ENSP00000297273:p.Thr531Ser		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.T531S	ENST00000297273.4	37	c.1592	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802329	0.50315	.	.	ENSG00000127995	ENST00000297273	T	0.49432	0.78	5.02	5.02	0.67125	.	0.050356	0.85682	D	0.000000	T	0.48205	0.1487	L	0.56340	1.77	0.51767	D	0.999937	B;B	0.29552	0.248;0.248	B;B	0.30179	0.112;0.112	T	0.51593	-0.8686	10	0.62326	D	0.03	.	18.7033	0.91629	0.0:1.0:0.0:0.0	.	531;531	Q8WZ77;Q96PB1	.;CASD1_HUMAN	S	531	ENSP00000297273:T531S	ENSP00000297273:T531S	T	+	2	0	CASD1	94012908	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.984000	0.56923	2.489000	0.83994	0.491000	0.48974	ACT	CASD1	-	pfam_Cas1_AcylTrans_dom	ENSG00000127995		0.313	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	-	0	42	0	C	NM_022900		94174972	1	tier1	-	no_errors	ENST00000297273	ensembl	human	known	74_37	missense	20.99	64	17	SNP	0.984	G	G	94174972	C	G	94174972	3	3	98	1	0	0	0	0	1	0	0	0	2671	565	20	5	1638	5	CASD1	7	94174972	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	49438328	94174972	64963691	42	28050											
SPAM1	6677	genome.wustl.edu	37	chr7	123594116	123594116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaacctaaagatgtttaCaagaataggtctattgaatt	16	13	8	4	0	1	3	0	1	1	2	1	4	1	4	1	2	2	1	1	2	9	7			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:123594116C>T	ENST00000439500.1	+	4	1105	c.492C>T	c.(490-492)taC>taT	p.Y164Y	SPAM1_ENST00000223028.7_Silent_p.Y164Y|SPAM1_ENST00000340011.5_Silent_p.Y164Y|SPAM1_ENST00000402183.2_Silent_p.Y164Y|SPAM1_ENST00000460182.1_Silent_p.Y164Y	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	164					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGATGTTTACAAGAATAGGT	0.393																																																	0													65	67	67					7																	123594116		2203	4300	6503	SO:0001819	synonymous_variant	0			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.492C>T	7.37:g.123594116C>T			Q8TC30	Silent	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.Y164	ENST00000439500.1	37	c.492	CCDS5791.1	7																																																																																			SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000106304		0.393	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	-	0	14	0	C			123594116	1	tier1	-	no_errors	ENST00000340011	ensembl	human	known	74_37	silent	40.91	13	9	SNP	0.879	T	T	123594116	C	T	123594116	2	4	98	1	0	0	0	0	0	0	0	1	15033	489	17	3		3	SPAM1	7	123594116	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	29419144	123594116	35544547	43	28051											
LRGUK	136332	genome.wustl.edu	37	chr7	133833054	133833054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcgtatcatgctctcActaaactaattttggatggt	10	15	8	8	1	3	0	3	0	1	0	4	1	3	1	0	2	3	2	0	2	4	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:133833054A>C	ENST00000285928.2	+	5	721	c.652A>C	c.(652-654)Act>Cct	p.T218P		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	218						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCATGCTCTCACTAAACTAAT	0.289																																																	0													64	64	64					7																	133833054		2202	4298	6500	SO:0001583	missense	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.652A>C	7.37:g.133833054A>C	ENSP00000285928:p.Thr218Pro		Q2M3I1	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	p.T218P	ENST00000285928.2	37	c.652	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682750	0.47991	.	.	ENSG00000155530	ENST00000285928	T	0.26957	1.7	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	M	0.84773	2.715	0.48511	D	0.999663	D	0.69078	0.997	D	0.65010	0.931	T	0.61004	-0.7150	10	0.66056	D	0.02	-20.1702	15.1689	0.72854	1.0:0.0:0.0:0.0	.	218	Q96M69	LRGUK_HUMAN	P	218	ENSP00000285928:T218P	ENSP00000285928:T218P	T	+	1	0	LRGUK	133483594	0.994000	0.37717	1.000000	0.80357	0.099000	0.18886	7.071000	0.76770	2.227000	0.72691	0.454000	0.30748	ACT	LRGUK	-	NULL	ENSG00000155530		0.289	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	-	0	17	0	A	NM_144648		133833054	1	tier1	-	no_errors	ENST00000285928	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	C	C	133833054	A	C	133833054	3	2	98	1	0	0	0	0	1	0	0	0	8978	159	6	4	670	4	LRGUK	7	133833054	Missense_Mutation	SNP	A	TCGA-LN-A49K-01A-11D-A247-09	10238938	133833054	25305609	44	28052											
NOS3	4846	genome.wustl.edu	37	chr7	150695460	150695460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcaggtgttcgatgcccggGactgcaggtctgcacaggaa	8	8	14	11	2	2	0	1	0	1	0	3	3	2	2	1	4	3	3	1	4	1	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr7:150695460G>A	ENST00000484524.1	+	5	598	c.598G>A	c.(598-600)Gac>Aac	p.D200N	NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000467517.1_Missense_Mutation_p.D200N|NOS3_ENST00000297494.3_Missense_Mutation_p.D200N	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGATGCCCGGGACTGCAGGTC	0.612																																																	0													52	43	46					7																	150695460		2193	4283	6476	SO:0001583	missense	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"endothelial nitric oxide synthase"	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.598G>A	7.37:g.150695460G>A	ENSP00000420215:p.Asp200Asn		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D200N	ENST00000484524.1	37	c.598	CCDS55182.1	7	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623016	0.46840	.	.	ENSG00000164867	ENST00000297494;ENST00000484524;ENST00000467517	T;T;T	0.22743	1.94;1.94;1.94	4.82	4.82	0.62117	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.64402	D	0.000012	T	0.22742	0.0549	L	0.55103	1.725	0.46336	D	0.998995	B;B;B;B	0.27559	0.101;0.101;0.016;0.181	B;B;B;B	0.30716	0.119;0.119;0.028;0.069	T	0.03922	-1.0992	10	0.16420	T	0.52	-14.6635	15.7812	0.78260	0.0:0.0:1.0:0.0	.	200;200;200;200	A0S0A6;E9PFR2;A0S0A8;P29474	.;.;.;NOS3_HUMAN	N	200	ENSP00000297494:D200N;ENSP00000420215:D200N;ENSP00000420551:D200N	ENSP00000297494:D200N	D	+	1	0	NOS3	150326393	1.000000	0.71417	0.997000	0.53966	0.839000	0.47603	7.876000	0.87215	2.383000	0.81215	0.573000	0.79308	GAC	NOS3	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk	ENSG00000164867		0.612	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000351550.1	-	0	32	0	G	NM_000603		150695460	1	tier1	-	no_errors	ENST00000297494	ensembl	human	known	74_37	missense	41.03	23	16	SNP	1.000	A	A	150695460	G	A	150695460	3	1	98	1	0	0	0	0	1	0	0	0	10583	1174	41	3	616	3	NOS3	7	150695460	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	16862406	150695460	8443203	45	28053											
LYPLA1	10434	genome.wustl.edu	37	chr8	54965225	54965225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accaagttacctgtggaaagGaagcccgaagtggaagccag	14	5	13	9	1	0	0	0	0	0	0	0	4	0	3	4	3	3	1	4	3	6	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr8:54965225G>A	ENST00000316963.3	-	7	645	c.452C>T	c.(451-453)tCc>tTc	p.S151F	LYPLA1_ENST00000519926.1_5'Flank|LYPLA1_ENST00000522007.1_Intron|LYPLA1_ENST00000343231.6_Missense_Mutation_p.S135F	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	151					fatty acid metabolic process (GO:0006631)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|nitric oxide metabolic process (GO:0046209)|protein depalmitoylation (GO:0002084)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	lysophospholipase activity (GO:0004622)|palmitoyl-(protein) hydrolase activity (GO:0008474)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			CTGTGGAAAGGAAGCCCGAAG	0.418																																																	0													66	60	62					8																	54965225		2203	4300	6503	SO:0001583	missense	0			AF081281	CCDS6157.1, CCDS64899.1, CCDS75738.1, CCDS75739.1	8q11.23-q12.1	2008-05-15			ENSG00000120992	ENSG00000120992	3.1.1.5		6737	protein-coding gene	gene with protein product		605599				10064899	Standard	NM_006330		Approved	LPL1	uc003xry.3	O75608	OTTHUMG00000164313	ENST00000316963.3:c.452C>T	8.37:g.54965225G>A	ENSP00000320043:p.Ser151Phe		O43202|Q9UQF9	Missense_Mutation	SNP	pfam_PLipase/COase/thioEstase,pfam_AB_hydrolase_3	p.S151F	ENST00000316963.3	37	c.452	CCDS6157.1	8	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598495	0.66332	.	.	ENSG00000120992	ENST00000316963;ENST00000343231;ENST00000521171;ENST00000518546;ENST00000521352	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	4.88	4.88	0.63580	Phospholipase/carboxylesterase/thioesterase (1);	0.000000	0.85682	D	0.000000	T	0.40145	0.1105	L	0.55990	1.75	0.80722	D	1	P;P	0.43392	0.805;0.668	P;P	0.50970	0.655;0.507	T	0.26608	-1.0098	10	0.66056	D	0.02	-3.5077	18.0108	0.89222	0.0:0.0:1.0:0.0	.	135;151	O75608-2;O75608	.;LYPA1_HUMAN	F	151;135;60;135;87	ENSP00000320043:S151F;ENSP00000344477:S135F;ENSP00000428729:S135F;ENSP00000428306:S87F	ENSP00000320043:S151F	S	-	2	0	LYPLA1	55127778	1.000000	0.71417	0.627000	0.29227	0.493000	0.33554	9.472000	0.97709	2.414000	0.81942	0.650000	0.86243	TCC	LYPLA1	-	pfam_PLipase/COase/thioEstase	ENSG00000120992		0.418	LYPLA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA1	HGNC	protein_coding	OTTHUMT00000378238.1	-	0	16	0	G			54965225	-1	tier1	-	no_errors	ENST00000316963	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.998	A	A	54965225	G	A	54965225	3	1	98	1	0	0	0	0	1	0	0	0	9152	1174	41	3	252	3	LYPLA1	8	54965225	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		54965225	91398797	46	28054											
NSMAF	8439	genome.wustl.edu	37	chr8	59510074	59510074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccaaattccaagatttgcGtaagcatggctaccttctca	11	11	7	12	1	1	1	1	0	1	1	3	1	2	1	3	1	3	3	3	1	4	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr8:59510074G>A	ENST00000038176.3	-	21	1876	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	NSMAF_ENST00000427130.2_Missense_Mutation_p.T586M	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	555	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CAAGATTTGCGTAAGCATGGC	0.448																																																	0													175	150	158					8																	59510074		2203	4300	6503	SO:0001583	missense	0			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1664C>T	8.37:g.59510074G>A	ENSP00000038176:p.Thr555Met		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T586M	ENST00000038176.3	37	c.1757	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918173	0.92249	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.80738	-1.41;-1.41	6.03	6.03	0.97812	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	M	0.82323	2.585	0.58432	D	0.999998	D;D	0.89917	1.0;0.989	D;P	0.65773	0.938;0.79	D	0.89555	0.3802	9	.	.	.	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	586;555	Q92636-2;Q92636	.;FAN_HUMAN	M	555;586	ENSP00000038176:T555M;ENSP00000411012:T586M	.	T	-	2	0	NSMAF	59672628	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.471000	0.97696	2.868000	0.98415	0.557000	0.71058	ACG	NSMAF	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000035681		0.448	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	-	0	40	0	G	NM_003580		59510074	-1	tier1	-	no_errors	ENST00000427130	ensembl	human	known	74_37	missense	44.07	33	26	SNP	1.000	A	A	59510074	G	A	59510074	3	1	98	1	0	0	0	0	1	0	0	0	10713	1145	40	1	1133	1	NSMAF	8	59510074	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	4544849	59510074	86853948	47	28055											
ZFHX4	79776	genome.wustl.edu	37	chr8	77767606	77767606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacgccaccaccggaGacgagggaaacactgaaatg	14	4	12	11	3	1	3	1	2	0	1	1	6	1	4	3	2	1	0	3	2	2	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr8:77767606G>T	ENST00000521891.2	+	10	8897	c.8449G>T	c.(8449-8451)Gac>Tac	p.D2817Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2772Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2772Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2791Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2772					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCACCGGAGACGAGGGAAA	0.468										HNSCC(33;0.089)																																							0													51	52	51					8																	77767606		1959	4154	6113	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8449G>T	8.37:g.77767606G>T	ENSP00000430497:p.Asp2817Tyr		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D2817Y	ENST00000521891.2	37	c.8449	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480011	0.26598	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.61158	0.13;0.19;0.16;0.15	4.98	4.98	0.66077	.	0.000000	0.45867	U	0.000325	T	0.73148	0.3550	L	0.55990	1.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75682	-0.3233	10	0.87932	D	0	.	18.4359	0.90646	0.0:0.0:1.0:0.0	.	2772;2772;2817	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	2817;2801;2772;2772;2791	ENSP00000430497:D2817Y;ENSP00000399605:D2772Y;ENSP00000050961:D2772Y;ENSP00000430848:D2791Y	ENSP00000050961:D2772Y	D	+	1	0	ZFHX4	77930161	1.000000	0.71417	0.112000	0.21494	0.218000	0.24690	9.657000	0.98554	2.588000	0.87417	0.561000	0.74099	GAC	ZFHX4	-	NULL	ENSG00000091656		0.468	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0	23	0	G	NM_024721		77767606	1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	77767606	G	T	77767606	3	4	98	1	0	0	0	0	1	0	0	0	17683	942	33	3	8483	3	ZFHX4	8	77767606	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	18257532	77767606	68596416	48	28056											
ZFHX4	79776	genome.wustl.edu	37	chr8	77767663	77767663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttccggagatgtgaaaccgGctttgtctcccaaagagcca	10	9	11	11	2	1	3	0	1	1	2	3	4	2	3	4	2	2	2	4	2	2	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr8:77767663G>T	ENST00000521891.2	+	10	8954	c.8506G>T	c.(8506-8508)Gct>Tct	p.A2836S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2791S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2791S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2810S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2791					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A2820S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTGAAACCGGCTTTGTCTCC	0.493										HNSCC(33;0.089)																																							2	Substitution - Missense(2)	lung(2)											63	65	64					8																	77767663		1934	4138	6072	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8506G>T	8.37:g.77767663G>T	ENSP00000430497:p.Ala2836Ser		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A2836S	ENST00000521891.2	37	c.8506	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.306177	0.01353	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.42900	0.96;1.0;0.97;0.96	5.25	3.36	0.38483	.	0.336651	0.20910	U	0.083500	T	0.15609	0.0376	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.19583	0.022;0.037;0.022	B;B;B	0.25987	0.029;0.065;0.054	T	0.34976	-0.9807	10	0.02654	T	1	.	4.2083	0.10498	0.0798:0.1327:0.5201:0.2674	.	2791;2791;2836	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2836;2820;2791;2791;2810	ENSP00000430497:A2836S;ENSP00000399605:A2791S;ENSP00000050961:A2791S;ENSP00000430848:A2810S	ENSP00000050961:A2791S	A	+	1	0	ZFHX4	77930218	0.864000	0.29904	0.199000	0.23439	0.007000	0.05969	2.966000	0.49208	0.713000	0.32060	-0.367000	0.07326	GCT	ZFHX4	-	NULL	ENSG00000091656		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0	21	0	G	NM_024721		77767663	1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.000	T	T	77767663	G	T	77767663	3	4	98	1	0	0	0	0	1	0	0	0	17683	1203	42	3	8540	3	ZFHX4	8	77767663	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	57	77767663	68596359	49	28057											
RUNX1T1	862	genome.wustl.edu	37	chr8	92972475	92972475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctgagttcacgtctagcGaggggttgtctctatggtgg	5	14	15	7	2	4	1	1	1	3	0	5	2	4	1	0	4	1	3	0	4	2	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr8:92972475G>A	ENST00000523629.1	-	12	2264	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R615C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R567C|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R604C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	604					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CACGTCTAGCGAGGGGTTGTC	0.542																																																	0													69	45	53					8																	92972475		2203	4300	6503	SO:0001583	missense	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1810C>T	8.37:g.92972475G>A	ENSP00000428543:p.Arg604Cys		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.R615C	ENST00000523629.1	37	c.1843	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500011	0.64298	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.38722	1.14;1.18;1.14;1.2;1.2;1.2;1.12;1.18	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	L	0.43923	1.385	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.986	D;D;D;D	0.71414	0.973;0.973;0.973;0.963	T	0.59974	-0.7353	10	0.87932	D	0	.	19.8956	0.96956	0.0:0.0:1.0:0.0	.	615;567;604;577	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	C	604;577;604;567;567;567;615;577	ENSP00000428543:R604C;ENSP00000379520:R577C;ENSP00000265814:R604C;ENSP00000353504:R567C;ENSP00000390137:R567C;ENSP00000428742:R567C;ENSP00000402257:R615C;ENSP00000430728:R577C	ENSP00000265814:R604C	R	-	1	0	RUNX1T1	93041651	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.823000	0.92018	2.708000	0.92522	0.563000	0.77884	CGC	RUNX1T1	-	NULL	ENSG00000079102		0.542	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0	93	0	G	NM_004349, NM_175635		92972475	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	missense	15.15	84	15	SNP	1.000	A	A	92972475	G	A	92972475	3	1	98	1	0	0	0	0	1	0	0	0	13792	1058	37	1	8	1	RUNX1T1	8	92972475	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	15204812	92972475	53391547	50	28058											
TLN1	7094	genome.wustl.edu	37	chr9	35703897	35703897	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgcgttgattagtaccaCctgtgtgggaaagcgttggc	8	11	13	9	2	0	1	0	1	0	0	0	2	0	2	2	2	3	3	2	2	3	4	rs367857218		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr9:35703897C>T	ENST00000314888.9	-	47	6585	c.6232G>A	c.(6232-6234)Gtg>Atg	p.V2078M	TLN1_ENST00000540444.1_Splice_Site_p.V1972M|TLN1_ENST00000464379.1_5'UTR	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2078					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATTAGTACCACCTGTGTGGGA	0.542																																																	0													141	129	133					9																	35703897		2203	4300	6503	SO:0001630	splice_region_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6232-1G>A	9.37:g.35703897C>T			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.V2078M	ENST00000314888.9	37	c.6232	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901643	0.72754	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13657	2.57;2.57	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.39172	0.1068	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.49560	-0.8927	10	0.72032	D	0.01	-14.9733	18.2524	0.90007	0.0:1.0:0.0:0.0	.	2078	Q9Y490	TLN1_HUMAN	M	2078;1972	ENSP00000316029:V2078M;ENSP00000442981:V1972M	ENSP00000316029:V2078M	V	-	1	0	TLN1	35693897	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	6.069000	0.71209	2.317000	0.78254	0.561000	0.74099	GTG	TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.542	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	-	0	33	0	C	NM_006289	Missense_Mutation	35703897	-1	tier1	-	no_errors	ENST00000314888	ensembl	human	known	74_37	missense	32.14	38	18	SNP	1.000	T	T	35703897	C	T	35703897	5	4	98	1	0	0	0	0	0	0	1	0	15994	521	18	3	1437	3	TLN1	9	35703897	Splice_Site	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		35703897	105509534	51	28059											
TEX10	54881	genome.wustl.edu	37	chr9	103065971	103065971	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtcaacatatgagtcctGaggggtgcatgctgaagcag	10	10	14	7	0	1	3	1	3	0	0	2	3	2	3	1	3	4	3	1	3	3	2	rs191855673		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr9:103065971G>A	ENST00000374902.4	-	14	2795	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Silent_p.L857L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	873						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGAGTCCTGAGGGGTGCAT	0.527																																																	0													175	168	171					9																	103065971		2203	4300	6503	SO:0001819	synonymous_variant	0			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2619C>T	9.37:g.103065971G>A			B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L873	ENST00000374902.4	37	c.2619	CCDS6748.1	9																																																																																			TEX10	-	NULL	ENSG00000136891		0.527	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	-	0	19	0	G	NM_017746		103065971	-1	tier1	-	no_errors	ENST00000374902	ensembl	human	known	74_37	silent	21.62	29	8	SNP	0.896	A	A	103065971	G	A	103065971	2	1	98	1	0	0	0	0	0	0	0	1	15819	1277	45	3		3	TEX10	9	103065971	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	67362074	103065971	38147460	52	28060											
OR1J1	347168	genome.wustl.edu	37	chr9	125240137	125240137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcgaagaacacggcctgCtgctctggccggatggggag	8	5	18	10	3	1	1	0	0	1	1	1	4	1	3	2	6	3	2	2	6	2	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr9:125240137C>A	ENST00000259357.2	-	1	98	c.69G>T	c.(67-69)caG>caT	p.Q23H	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACACGGCCTGCTGCTCTGGCC	0.582																																																	0													116	112	114					9																	125240137		2203	4300	6503	SO:0001583	missense	0			AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"GPCR / Class A : Olfactory receptors"	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.69G>T	9.37:g.125240137C>A	ENSP00000259357:p.Gln23His		A3KFL8|Q6IF10|Q96R88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q23H	ENST00000259357.2	37	c.69	CCDS35120.1	9	.	.	.	.	.	.	.	.	.	.	C	2.086	-0.409540	0.04799	.	.	ENSG00000136834	ENST00000259357	T	0.02974	4.09	4.37	1.52	0.23074	.	0.000000	0.53938	D	0.000041	T	0.01905	0.0060	L	0.31120	0.905	0.09310	N	0.999998	B	0.20671	0.047	B	0.20577	0.03	T	0.46938	-0.9155	10	0.16420	T	0.52	.	3.1355	0.06437	0.2814:0.4322:0.0:0.2863	.	23	Q8NGS3	OR1J1_HUMAN	H	23	ENSP00000259357:Q23H	ENSP00000259357:Q23H	Q	-	3	2	OR1J1	124279958	0.000000	0.05858	0.609000	0.28983	0.190000	0.23558	-1.432000	0.02430	0.610000	0.30035	0.531000	0.56144	CAG	OR1J1	-	NULL	ENSG00000136834		0.582	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J1	HGNC	protein_coding	OTTHUMT00000053931.1	-	0	66	0	C			125240137	-1	tier1	-	no_errors	ENST00000259357	ensembl	human	known	74_37	missense	32.00	68	32	SNP	0.070	A	A	125240137	C	A	125240137	3	1	98	1	0	0	0	0	1	0	0	0	10998	796	28	3	902	3	OR1J1	9	125240137	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	22174166	125240137	15973294	53	28061											
PBX3	5090	genome.wustl.edu	37	chr9	128697755	128697755	+	Frame_Shift_Del	DEL	A	A	-																															ttcactcttgtcatagacggAaaaggcgtaacttcagtaaa																										TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr9:128697755delA	ENST00000373489.5	+	5	728	c.712delA	c.(712-714)aaafs	p.K238fs	PBX3_ENST00000447726.2_Frame_Shift_Del_p.K163fs|PBX3_ENST00000373483.2_Frame_Shift_Del_p.K57fs|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000342287.5_Frame_Shift_Del_p.K238fs|PBX3_ENST00000373487.4_Frame_Shift_Del_p.K238fs	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	238					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TCATAGACGGAAAAGGCGTAA	0.393																																																	0													92	85	87					9																	128697755		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"Homeoboxes / TALE class"	8634	protein-coding gene	gene with protein product		176312	"pre-B-cell leukemia transcription factor 3"			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.712delA	9.37:g.128697755delA	ENSP00000362588:p.Lys238fs		E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Frame_Shift_Del	DEL	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R239fs	ENST00000373489.5	37	c.712	CCDS6865.1	9																																																																																			PBX3	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000167081		0.393	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PBX3	HGNC	protein_coding	OTTHUMT00000417765.1		0	23	0	A			128697755	1	tier1		no_errors	ENST00000373489	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-	-	128697755	A	-	128697755	7	5	98	1	0	1	0	1	0	0	0	0	11533	247	9	0	730	0	PBX3	9	128697755	Frame_Shift_Del	DEL	A	TCGA-LN-A49K-01A-11D-A247-09	3457618	128697755	12515676	54	28062											
ARMC4	55130	genome.wustl.edu	37	chr10	28196695	28196695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaacgaactccatctaagCgatcaattatcctatcgtgg	14	10	6	11	3	2	0	1	0	1	0	5	2	4	0	2	1	3	0	2	1	6	3	rs376281682		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr10:28196695C>T	ENST00000305242.5	-	17	2599	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	ARMC4_ENST00000545014.1_Missense_Mutation_p.R361H|ARMC4_ENST00000537576.1_Missense_Mutation_p.R528H	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	836					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCATCTAAGCGATCAATTAT	0.398																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110	97	101		2507	2.9	1	10		101	0,8600		0,0,4300	no	missense	ARMC4	NM_018076.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	836/1045	28196695	1,13005	2203	4300	6503	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2507G>A	10.37:g.28196695C>T	ENSP00000306410:p.Arg836His		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.R836H	ENST00000305242.5	37	c.2507	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449894	0.43531	2.27E-4	0.0	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.64803	-0.12;-0.12;-0.12	5.74	2.89	0.33648	Armadillo-like helical (1);Armadillo-type fold (1);	0.209827	0.49916	D	0.000123	T	0.73353	0.3576	M	0.70903	2.155	0.80722	D	1	D;B	0.69078	0.997;0.434	D;B	0.66084	0.941;0.133	T	0.72459	-0.4287	10	0.62326	D	0.03	-4.2619	9.7055	0.40214	0.0:0.7556:0.1164:0.128	.	361;836	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	H	528;836;361	ENSP00000443208:R528H;ENSP00000306410:R836H;ENSP00000441076:R361H	ENSP00000306410:R836H	R	-	2	0	ARMC4	28236701	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	1.257000	0.32932	0.366000	0.24427	-0.119000	0.15052	CGC	ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169126		0.398	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	-	0	14	0	C	NM_018076		28196695	-1	tier1	-	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	43.90	23	18	SNP	1.000	T	T	28196695	C	T	28196695	3	4	98	1	0	0	0	0	1	0	0	0	954	768	27	1	643	1	ARMC4	10	28196695	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		28196695	107338052	55	28063											
SIRT1	23411	genome.wustl.edu	37	chr10	69644841	69644841	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgctggccgacaacttgtAcgacgaagacgacgacgacg	12	4	12	13	8	0	1	0	0	0	1	0	7	0	1	2	1	2	2	2	1	3	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr10:69644841A>G	ENST00000212015.6	+	1	415	c.362A>G	c.(361-363)tAc>tGc	p.Y121C	SIRT1_ENST00000432464.1_5'Flank	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	121	Interaction with CLOCK. {ECO:0000250|UniProtKB:Q923E4}.|Interaction with HIST1H1E.				angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GACAACTTGTacgacgaagac	0.716																																																	0													3	4	4					10																	69644841		1725	3545	5270	SO:0001583	missense	0			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1", "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.362A>G	10.37:g.69644841A>G	ENSP00000212015:p.Tyr121Cys		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.Y121C	ENST00000212015.6	37	c.362	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	a	9.886	1.203024	0.22121	.	.	ENSG00000096717	ENST00000212015	T	0.33654	1.4	3.34	2.18	0.27775	.	2.324550	0.02346	U	0.075351	T	0.28532	0.0706	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12528	-1.0544	10	0.36615	T	0.2	8.1065	5.2062	0.15293	0.7318:0.0:0.2682:0.0	.	121	Q96EB6	SIRT1_HUMAN	C	121	ENSP00000212015:Y121C	ENSP00000212015:Y121C	Y	+	2	0	SIRT1	69314847	0.698000	0.27777	0.729000	0.30791	0.479000	0.33129	0.461000	0.21940	0.305000	0.22832	0.454000	0.30748	TAC	SIRT1	-	NULL	ENSG00000096717		0.716	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1		0	9	0	A			69644841	1			no_errors	ENST00000212015	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.984	G	G	69644841	A	G	69644841	3	3	98	1	0	0	0	0	1	0	0	0	14382	391	14	4	364	4	SIRT1	10	69644841	Missense_Mutation	SNP	A	TCGA-LN-A49K-01A-11D-A247-09	41448146	69644841	65889906	56	28064											
OR10A6	390093	genome.wustl.edu	37	chr11	7949463	7949463	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggctgtgccatagaatagGgtcacagatgtgaggtgagc	10	9	15	7	0	1	4	1	2	0	2	1	4	1	4	1	3	2	1	1	3	3	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:7949463G>C	ENST00000309838.2	-	1	746	c.747C>G	c.(745-747)acC>acG	p.T249T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATAGAATAGGGTCACAGATG	0.463																																																	0													130	117	121					11																	7949463		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"GPCR / Class A : Olfactory receptors"	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.747C>G	11.37:g.7949463G>C			Q6IF59	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T249	ENST00000309838.2	37	c.747	CCDS31420.1	11																																																																																			OR10A6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000175393		0.463	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A6	HGNC	protein_coding	OTTHUMT00000385703.1	-	0	54	0	G	NM_001004461		7949463	-1	tier1	-	no_errors	ENST00000309838	ensembl	human	known	74_37	silent	22.22	42	12	SNP	0.284	C	C	7949463	G	C	7949463	2	2	98	1	0	0	0	0	0	0	0	1	10933	1219	43	5		5	OR10A6	11	7949463	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		7949463	127057053	57	28065											
PIK3C2A	5286	genome.wustl.edu	37	chr11	17190418	17190418	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttgaaacatttttctcttCctcatggtctaatacctcca	10	16	3	12	0	3	1	1	1	2	0	6	1	5	1	3	1	2	0	3	1	3	6			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:17190418C>A	ENST00000265970.7	-	1	870	c.871G>T	c.(871-873)Gaa>Taa	p.E291*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	291					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTTTTCTCTTCCTCATGGTCT	0.398																																																	0													169	163	165					11																	17190418		2200	4293	6493	SO:0001587	stop_gained	0			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"phosphoinositide-3-kinase, class 2, alpha polypeptide"			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.871G>T	11.37:g.17190418C>A	ENSP00000265970:p.Glu291*		B0LPH2|B4E2G4|Q14CQ9	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.E291*	ENST00000265970.7	37	c.871	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891510	0.72524	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	.	.	.	5.3	5.3	0.74995	.	0.620727	0.16623	N	0.206389	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-19.9778	14.5589	0.68120	0.0:0.8539:0.1461:0.0	.	.	.	.	X	291	.	ENSP00000265970:E291X	E	-	1	0	PIK3C2A	17146994	0.758000	0.28405	0.953000	0.39169	0.700000	0.40528	2.551000	0.45820	2.467000	0.83353	0.563000	0.77884	GAA	PIK3C2A	-	NULL	ENSG00000011405		0.398	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1		0	34	0	C	NM_002645		17190418	-1			no_errors	ENST00000265970	ensembl	human	known	74_37	nonsense	6.78	55	4	SNP	0.996	A	A	17190418	C	A	17190418	4	1	98	1	0	0	0	0	0	1	0	0	11948	864	30	3	4317	3	PIK3C2A	11	17190418	Nonsense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	9240955	17190418	117816098	58	28066											
C11orf46	120534	genome.wustl.edu	37	chr11	30358340	30358340	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcataataaacatgctggaTaatctgcggtaccaaactat	15	12	6	8	1	2	0	1	0	1	0	2	1	2	1	1	2	5	2	1	2	7	6			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:30358340T>A	ENST00000282032.3	+	4	996	c.781T>A	c.(781-783)Taa>Aaa	p.*261K		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	0						cytoplasm (GO:0005737)											ACATGCTGGATAATCTGCGGT	0.358																																																	0													59	58	59					11																	30358340		2202	4299	6501	SO:0001578	stop_lost	0			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"chromosome 11 open reading frame 46"	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.781T>A	11.37:g.30358340T>A	ENSP00000282032:p.*261Lysext*15		Q5HYH9	Nonstop_Mutation	SNP	NULL	p.*261K	ENST00000282032.3	37	c.781	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.036971	0.75617	.	.	ENSG00000152219	ENST00000282032	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	.	.	.	K	261	.	.	X	+	1	0	C11orf46	30314916	1.000000	0.71417	0.277000	0.24703	0.756000	0.42949	5.486000	0.66856	2.279000	0.76181	0.533000	0.62120	TAA	ARL14EP	-	NULL	ENSG00000152219		0.358	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1		0	28	0	T	NM_152316		30358340	1			no_errors	ENST00000282032	ensembl	human	known	74_37	nonstop	43.33	17	13	SNP	0.924	A	A	30358340	T	A	30358340	4	1	98	1	0	0	0	0	0	0	0	0	1648	1419	49	5	791	5	C11orf46	11	30358340	Nonstop_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	13167922	30358340	104648176	59	28067											
AMBRA1	55626	genome.wustl.edu	37	chr11	46563800	46563800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctcgccagaggagtagttAggtgtggttctttcccagcg	6	11	14	10	2	1	1	0	0	1	1	3	2	2	2	3	3	1	3	3	3	2	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:46563800A>G	ENST00000458649.2	-	7	2185	c.1767T>C	c.(1765-1767)ccT>ccC	p.P589P	AMBRA1_ENST00000314845.3_Silent_p.P499P|AMBRA1_ENST00000528950.1_Silent_p.P589P|AMBRA1_ENST00000298834.3_Silent_p.P589P|AMBRA1_ENST00000533727.1_Silent_p.P499P|AMBRA1_ENST00000534300.1_Silent_p.P589P|AMBRA1_ENST00000426438.1_Silent_p.P589P			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	589					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGGAGTAGTTAGGTGTGGTTC	0.572																																																	0													80	67	72					11																	46563800		2201	4299	6500	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1767T>C	11.37:g.46563800A>G			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P589	ENST00000458649.2	37	c.1767		11																																																																																			AMBRA1	-	NULL	ENSG00000110497		0.572	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	24	0	A	NM_017749		46563800	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	silent	23.26	33	10	SNP	0.627	G	G	46563800	A	G	46563800	2	3	98	1	0	0	0	0	0	0	0	1	565	407	15	4		4	AMBRA1	11	46563800	Silent	SNP	A	TCGA-LN-A49K-01A-11D-A247-09	16205460	46563800	88442716	60	28068											
DAGLA	747	genome.wustl.edu	37	chr11	61502404	61502404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtggctgtaatgccattgCcatccggcgccacttcctgg	5	11	11	14	2	0	0	0	0	0	0	2	0	2	0	5	3	2	2	5	3	1	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:61502404C>T	ENST00000257215.5	+	10	1174	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	353					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AATGCCATTGCCATCCGGCGC	0.622																																																	0													217	195	203					11																	61502404		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1058C>T	11.37:g.61502404C>T	ENSP00000257215:p.Ala353Val		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.A353V	ENST00000257215.5	37	c.1058	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.337283	0.95758	.	.	ENSG00000134780	ENST00000257215	T	0.29397	1.57	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	M	0.74467	2.265	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.62685	-0.6802	10	0.66056	D	0.02	-30.7933	16.7005	0.85348	0.0:1.0:0.0:0.0	.	353	Q9Y4D2	DGLA_HUMAN	V	353	ENSP00000257215:A353V	ENSP00000257215:A353V	A	+	2	0	DAGLA	61258980	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.021000	0.76425	2.245000	0.73994	0.561000	0.74099	GCC	DAGLA	-	NULL	ENSG00000134780		0.622	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	-	0	62	0	C	NM_006133		61502404	1	tier1	-	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	24.00	57	18	SNP	1.000	T	T	61502404	C	T	61502404	3	4	98	1	0	0	0	0	1	0	0	0	4235	739	26	3	1092	3	DAGLA	11	61502404	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	14938604	61502404	73504112	61	28069											
GANAB	23193	genome.wustl.edu	37	chr11	62397743	62397743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagtcagggtaaccagCtgagcctgggagaagttaag	13	7	15	6	0	1	3	1	2	0	1	1	4	1	3	2	2	3	3	2	2	4	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:62397743C>A	ENST00000356638.3	-	13	1535	c.1519G>T	c.(1519-1521)Gct>Tct	p.A507S	GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000534779.1_Missense_Mutation_p.A415S|GANAB_ENST00000540933.1_Missense_Mutation_p.A410S|GANAB_ENST00000346178.4_Missense_Mutation_p.A529S	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	507					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GGGTAACCAGCTGAGCCTGGG	0.537																																					Melanoma(23;1005 1074 15747 18937)												0													76	66	69					11																	62397743		2202	4299	6501	SO:0001583	missense	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1519G>T	11.37:g.62397743C>A	ENSP00000349053:p.Ala507Ser		A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom	p.A529S	ENST00000356638.3	37	c.1585	CCDS8026.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.650|2.650	-0.282232|-0.282232	0.05642|0.05642	.|.	.|.	ENSG00000089597|ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933|ENST00000540002	D;D;D;D|.	0.92595|.	-3.07;-3.07;-3.07;-3.07|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Glycoside hydrolase, superfamily (1);|.	0.055010|.	0.64402|.	D|.	0.000001|.	T|T	0.38026|0.38026	0.1025|0.1025	N|N	0.02334|0.02334	-0.595|-0.595	0.46298|0.46298	D|D	0.998976|0.998976	B;B;B;B|.	0.10296|.	0.003;0.003;0.003;0.002|.	B;B;B;B|.	0.15052|.	0.012;0.012;0.012;0.007|.	T|T	0.53034|0.53034	-0.8495|-0.8495	10|6	0.02654|0.62326	T|D	1|0.03	-17.561|-17.561	16.2695|16.2695	0.82607|0.82607	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	393;415;507;529|.	B4DIW2;E9PKU7;Q14697;Q14697-2|.	.;.;GANAB_HUMAN;.|.	S|I	529;507;415;410|92	ENSP00000340466:A529S;ENSP00000349053:A507S;ENSP00000435306:A415S;ENSP00000442962:A410S|.	ENSP00000340466:A529S|ENSP00000439113:S92I	A|S	-|-	1|2	0|0	GANAB|GANAB	62154319|62154319	0.981000|0.981000	0.34729|0.34729	0.999000|0.999000	0.59377|0.59377	0.995000|0.995000	0.86356|0.86356	2.354000|2.354000	0.44098|0.44098	2.706000|2.706000	0.92434|0.92434	0.561000|0.561000	0.74099|0.74099	GCT|AGC	GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000089597		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	-	0	41	0	C	NM_198334		62397743	-1	tier1	-	no_errors	ENST00000346178	ensembl	human	known	74_37	missense	17.11	63	13	SNP	0.998	A	A	62397743	C	A	62397743	3	1	98	1	0	0	0	0	1	0	0	0	6258	797	28	3	1363	3	GANAB	11	62397743	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	895339	62397743	72608773	62	28070											
CCDC88B	283234	genome.wustl.edu	37	chr11	64109782	64109782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggaggagaaggccgagCtgctgctagactcccaggcc	9	4	15	13	1	0	2	0	0	0	2	1	5	1	3	4	4	3	3	4	4	2	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:64109782C>A	ENST00000356786.5	+	9	882	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'Flank	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	280						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAGGCCGAGCTGCTGCTAGA	0.677																																																	0													34	39	37					11																	64109782		2192	4288	6480	SO:0001583	missense	0			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"brain leucine zipper protein", "GRP78-interacting protein induced by ER stress"	611205	"coiled-coil domain containing 88"	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.838C>A	11.37:g.64109782C>A	ENSP00000349238:p.Leu280Met		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_Hook-related_fam	p.L280M	ENST00000356786.5	37	c.838	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	.	10.15	1.269991	0.23221	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.59502	0.26	3.74	0.356	0.16074	.	.	.	.	.	T	0.48642	0.1511	N	0.19112	0.55	0.54753	D	0.999984	P;P	0.48998	0.918;0.918	P;P	0.57776	0.765;0.827	T	0.44590	-0.9318	9	0.34782	T	0.22	.	3.2617	0.06851	0.0:0.4891:0.219:0.2919	.	280;280	B2RTU8;A6NC98	.;CC88B_HUMAN	M	280	ENSP00000349238:L280M	ENSP00000349238:L280M	L	+	1	2	CCDC88B	63866358	0.018000	0.18449	0.601000	0.28877	0.726000	0.41606	-0.521000	0.06245	0.312000	0.23038	-0.703000	0.03666	CTG	CCDC88B	-	pfam_Hook-related_fam	ENSG00000168071		0.677	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	-	0	36	0	C	NM_032251		64109782	1	tier1	-	no_errors	ENST00000356786	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.786	A	A	64109782	C	A	64109782	3	1	98	1	0	0	0	0	1	0	0	0	2871	796	28	3	872	3	CCDC88B	11	64109782	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	1712039	64109782	70896734	63	28071											
MAP6	4135	genome.wustl.edu	37	chr11	75299016	75299016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttaaaggctcagggacCgtgtgatcttgatccttgac	8	14	10	9	1	3	3	1	3	2	0	4	4	4	4	2	2	0	1	2	2	2	5	rs569375606	byFrequency	TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:75299016C>T	ENST00000304771.3	-	4	2280	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Silent_p.T181T|MAP6_ENST00000526689.1_5'Flank	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	510	Pro-rich.				dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.T510T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GCTCAGGGACCGTGTGATCTT	0.512													C|||	2	0.000399361	0	0	5008	,	,		21113	0.002		0	False		,,,				2504	0				Esophageal Squamous(181;1115 2007 8647 17065 22697)												1	Substitution - coding silent(1)	lung(1)											169	160	163					11																	75299016		2200	4293	6493	SO:0001819	synonymous_variant	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1530G>A	11.37:g.75299016C>T			A7E2A1|Q6P3T0|Q6ZWB8	Silent	SNP	pfam_MAP6/FAM154	p.T510	ENST00000304771.3	37	c.1530	CCDS31641.1	11																																																																																			MAP6	-	NULL	ENSG00000171533		0.512	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	HGNC	protein_coding	OTTHUMT00000383527.1	-	0	86	0	C	NM_033063		75299016	-1	tier1	-	no_errors	ENST00000304771	ensembl	human	known	74_37	silent	7.95	139	12	SNP	0.007	T	T	75299016	C	T	75299016	2	4	98	1	0	0	0	0	0	0	0	1	9302	639	23	1		1	MAP6	11	75299016	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	11189234	75299016	59707500	64	28072											
KCTD21	283219	genome.wustl.edu	37	chr11	77885236	77885236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcacagtgaagtggaccGtctgcacacgctggttcagt	8	8	13	12	4	2	1	1	1	1	0	2	2	2	2	1	2	1	4	1	2	1	1	rs370613583		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:77885236G>A	ENST00000340067.3	-	2	643	c.365C>T	c.(364-366)aCg>aTg	p.T122M	KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	122					protein homooligomerization (GO:0051260)			p.T122M(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GAAGTGGACCGTCTGCACACG	0.577																																																	1	Substitution - Missense(1)	endometrium(1)											140	110	120					11																	77885236		2200	4292	6492	SO:0001583	missense	0			AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 21"			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.365C>T	11.37:g.77885236G>A	ENSP00000339340:p.Thr122Met		B4DTR0	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.T122M	ENST00000340067.3	37	c.365	CCDS31645.1	11	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388055	0.25118	.	.	ENSG00000188997	ENST00000340067;ENST00000526208;ENST00000525447	T;T;T	0.54071	0.59;0.62;0.64	6.03	3.99	0.46301	.	0.108319	0.40728	N	0.001028	T	0.29223	0.0727	N	0.08118	0	0.26372	N	0.976876	B	0.06786	0.001	B	0.04013	0.001	T	0.12528	-1.0544	10	0.33940	T	0.23	.	8.6303	0.33915	0.1426:0.0:0.7232:0.1343	.	122	Q4G0X4	KCD21_HUMAN	M	122	ENSP00000339340:T122M;ENSP00000431789:T122M;ENSP00000434174:T122M	ENSP00000339340:T122M	T	-	2	0	KCTD21	77562884	1.000000	0.71417	0.930000	0.37139	0.955000	0.61496	3.267000	0.51577	1.558000	0.49541	0.655000	0.94253	ACG	KCTD21	-	NULL	ENSG00000188997		0.577	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD21	HGNC	protein_coding	OTTHUMT00000390057.1	-	0	28	0	G	NM_001029859		77885236	-1	tier1	-	no_errors	ENST00000340067	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.446	A	A	77885236	G	A	77885236	3	1	98	1	0	0	0	0	1	0	0	0	8136	1145	40	1	421	1	KCTD21	11	77885236	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	2586220	77885236	57121280	65	28073											
PRCP	5547	genome.wustl.edu	37	chr11	82611294	82611294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttctgttggaagtagaGaaccgaatagttcttggcta	11	13	10	7	1	2	1	0	0	2	1	2	4	2	2	2	2	2	4	2	2	7	8			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:82611294G>A	ENST00000313010.3	-	1	345	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.L51F|C11orf82_ENST00000525388.1_5'Flank|C11orf82_ENST00000528759.1_5'Flank|C11orf82_ENST00000525361.1_5'Flank|C11orf82_ENST00000430323.2_5'Flank|C11orf82_ENST00000524921.1_5'Flank|C11orf82_ENST00000533655.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	51					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGGAAGTAGAGAACCGAATAG	0.652																																																	0													69	79	75					11																	82611294		2203	4300	6503	SO:0001583	missense	0			BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.151C>T	11.37:g.82611294G>A	ENSP00000317362:p.Leu51Phe		A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	pfam_Peptidase_S28	p.L51F	ENST00000313010.3	37	c.151	CCDS8262.1	11	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331021	0.41297	.	.	ENSG00000137509	ENST00000313010;ENST00000393399	T;T	0.15017	2.53;2.46	3.92	3.01	0.34805	.	0.760259	0.12543	N	0.459778	T	0.07863	0.0197	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.001;0.004	T	0.21075	-1.0256	9	.	.	.	0.6475	7.5979	0.28058	0.1158:0.0:0.8842:0.0	.	51;51	P42785;A8MU24	PCP_HUMAN;.	F	51	ENSP00000317362:L51F;ENSP00000377055:L51F	.	L	-	1	0	PRCP	82288942	0.989000	0.36119	0.654000	0.29608	0.882000	0.50991	1.557000	0.36299	1.246000	0.43901	0.563000	0.77884	CTC	PRCP	-	NULL	ENSG00000137509		0.652	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRCP	HGNC	protein_coding	OTTHUMT00000391792.1	-	0	69	0	G	NM_005040		82611294	-1	tier1	-	no_errors	ENST00000393399	ensembl	human	known	74_37	missense	14.94	131	23	SNP	0.764	A	A	82611294	G	A	82611294	3	1	98	1	0	0	0	0	1	0	0	0	12491	942	33	3	1442	3	PRCP	11	82611294	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	4726058	82611294	52395222	66	28074											
GRIK4	2900	genome.wustl.edu	37	chr11	120831733	120831733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctggctgaccagaccGccattgaatatggcacaatt	12	9	9	11	1	0	4	0	3	0	1	0	4	0	4	4	2	0	2	4	2	3	3	rs139636929		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr11:120831733G>A	ENST00000527524.2	+	17	2277	c.1990G>A	c.(1990-1992)Gcc>Acc	p.A664T	GRIK4_ENST00000438375.2_Missense_Mutation_p.A664T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	664					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TGACCAGACCGCCATTGAATA	0.532													G|||	1	0.000199681	8e-04	0	5008	,	,		20033	0		0	False		,,,				2504	0																0								G	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	118	99	105		1990	3.7	1	11	dbSNP_134	105	0,8598		0,0,4299	yes	missense	GRIK4	NM_014619.2	58	0,6,6496	AA,AG,GG		0.0,0.1362,0.0461	benign	664/957	120831733	6,12998	2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1990G>A	11.37:g.120831733G>A	ENSP00000435648:p.Ala664Thr		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A664T	ENST00000527524.2	37	c.1990	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528608	0.44969	0.001362	0.0	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11277	2.79;2.79	5.51	3.66	0.41972	Ionotropic glutamate receptor (2);	0.270482	0.42172	N	0.000747	T	0.05456	0.0144	N	0.05012	-0.13	0.35910	D	0.831013	B;B	0.16603	0.018;0.018	B;B	0.20955	0.032;0.032	T	0.26018	-1.0115	10	0.45353	T	0.12	.	8.4365	0.32791	0.3017:0.0:0.6983:0.0	.	664;664	A6H8K8;Q16099	.;GRIK4_HUMAN	T	664	ENSP00000435648:A664T;ENSP00000404063:A664T	ENSP00000404063:A664T	A	+	1	0	GRIK4	120336943	0.906000	0.30813	0.987000	0.45799	0.999000	0.98932	1.455000	0.35190	0.707000	0.31934	0.655000	0.94253	GCC	GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.532	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	53	0	G	NM_014619		120831733	1	tier1	rs139636929	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.628	A	A	120831733	G	A	120831733	3	1	98	1	0	0	0	0	1	0	0	0	6803	1087	38	1	2048	1	GRIK4	11	120831733	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	38220439	120831733	14174783	67	28075											
TAS2R43	259289	genome.wustl.edu	37	chr12	11244634	11244634	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacacagttgaataccaGtttaataataatacccagag	17	11	5	8	0	1	2	1	1	0	1	1	2	1	2	2	0	3	2	2	0	7	8	rs200893955		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:11244634G>A	ENST00000531678.1	-	1	278	c.195C>T	c.(193-195)aaC>aaT	p.N65N	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	65					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTGAATACCAGTTTAATAATA	0.408																																																	0													52	46	48					12																	11244634		1928	3963	5891	SO:0001819	synonymous_variant	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.195C>T	12.37:g.11244634G>A			P59546|Q645X4	Silent	SNP	pfam_TAS2_rcpt	p.N65	ENST00000531678.1	37	c.195	CCDS53749.1	12																																																																																			TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.408	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1	-	0	27	0	G	NM_176884		11244634	-1	tier1	rs200893955	no_errors	ENST00000531678	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.001	A	A	11244634	G	A	11244634	2	1	98	1	0	0	0	0	0	0	0	1	15628	1020	36	3		3	TAS2R43	12	11244634	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		11244634	122607261	68	28076			1	25		2	2	13	N	T_G	4.186402e-05
TAS2R43	259289	genome.wustl.edu	37	chr12	11244646	11244646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaataccagtttaataataaTacccagagcaaaccaactct	18	9	4	10	0	1	1	0	0	1	1	1	2	1	1	3	0	5	2	3	0	8	6	rs201583586		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:11244646T>C	ENST00000531678.1	-	1	266	c.183A>G	c.(181-183)gtA>gtG	p.V61V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	61					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TTAATAATAATACCCAGAGCA	0.393																																																	0													52	47	49					12																	11244646		1950	3985	5935	SO:0001819	synonymous_variant	0			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.183A>G	12.37:g.11244646T>C			P59546|Q645X4	Silent	SNP	pfam_TAS2_rcpt	p.V61	ENST00000531678.1	37	c.183	CCDS53749.1	12																																																																																			TAS2R43	-	pfam_TAS2_rcpt	ENSG00000255374		0.393	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R43	HGNC	protein_coding	OTTHUMT00000383561.1		0	20	0	T	NM_176884		11244646	-1			no_errors	ENST00000531678	ensembl	human	known	74_37	silent	13.11	53	8	SNP	0.001	C	C	11244646	T	C	11244646	2	2	98	1	0	0	0	0	0	0	0	1	15628	1393	49	4		4	TAS2R43	12	11244646	Silent	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	12	11244646	122607249	69	28077			1	25		2	2	13	N	T_G	4.186402e-05
PTPRO	5800	genome.wustl.edu	37	chr12	15710404	15710404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagggagtgtggagctggTacatttgtcaattttgcatc	10	13	12	6	0	1	0	1	0	0	0	2	2	1	2	0	3	4	3	0	3	3	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:15710404T>C	ENST00000281171.4	+	16	2904	c.2574T>C	c.(2572-2574)ggT>ggC	p.G858G	PTPRO_ENST00000544244.1_Silent_p.G47G|PTPRO_ENST00000542557.1_Silent_p.G47G|PTPRO_ENST00000348962.2_Silent_p.G858G|PTPRO_ENST00000442921.2_Silent_p.G47G|PTPRO_ENST00000445537.2_Silent_p.G47G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	858					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGGAGCTGGTACATTTGTCA	0.388																																																	0													213	198	203					12																	15710404		2203	4300	6503	SO:0001819	synonymous_variant	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2574T>C	12.37:g.15710404T>C			A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G858	ENST00000281171.4	37	c.2574	CCDS8675.1	12																																																																																			PTPRO	-	NULL	ENSG00000151490		0.388	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	-	0	42	0	T			15710404	1	tier1	-	no_errors	ENST00000281171	ensembl	human	known	74_37	silent	31.43	48	22	SNP	0.983	C	C	15710404	T	C	15710404	2	2	98	1	0	0	0	0	0	0	0	1	12854	1625	57	4		4	PTPRO	12	15710404	Silent	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	4465758	15710404	118141491	70	28078											
SLCO1B1	10599	genome.wustl.edu	37	chr12	21349897	21349897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taggcactatcaggataactCctactgattctcgatgggtt	10	13	9	9	1	2	1	1	1	1	0	4	3	3	2	1	3	2	2	1	3	4	6			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:21349897C>T	ENST00000256958.2	+	8	841	c.745C>T	c.(745-747)Cct>Tct	p.P249S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	249					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CAGGATAACTCCTACTGATTC	0.358																																																	0													189	178	181					12																	21349897		2203	4300	6503	SO:0001583	missense	0				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"Solute carriers"	10959	protein-coding gene	gene with protein product		604843	"solute carrier family 21 (organic anion transporter), member 6"	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.745C>T	12.37:g.21349897C>T	ENSP00000256958:p.Pro249Ser		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.P249S	ENST00000256958.2	37	c.745	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	C	13.21	2.169167	0.38315	.	.	ENSG00000134538	ENST00000256958	T	0.38560	1.13	3.24	3.24	0.37175	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.378221	0.27976	N	0.017087	T	0.57344	0.2047	M	0.74881	2.28	0.47214	D	0.999359	P	0.52061	0.95	P	0.57283	0.817	T	0.63567	-0.6608	10	0.59425	D	0.04	.	12.7505	0.57306	0.0:1.0:0.0:0.0	.	249	Q9Y6L6	SO1B1_HUMAN	S	249	ENSP00000256958:P249S	ENSP00000256958:P249S	P	+	1	0	SLCO1B1	21241164	0.938000	0.31826	0.994000	0.49952	0.117000	0.20001	4.029000	0.57253	1.797000	0.52628	0.491000	0.48974	CCT	SLCO1B1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000134538		0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	-	0	78	0	C	NM_006446		21349897	1	tier1	-	no_errors	ENST00000256958	ensembl	human	known	74_37	missense	40.38	62	42	SNP	1.000	T	T	21349897	C	T	21349897	3	4	98	1	0	0	0	0	1	0	0	0	14768	855	30	3	771	3	SLCO1B1	12	21349897	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	5639493	21349897	112501998	71	28079											
ADAMTS20	80070	genome.wustl.edu	37	chr12	43771250	43771250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaggaaggcaccacaGggcattcttgataaactata	14	8	10	9	0	1	2	0	2	1	1	1	4	1	3	2	3	1	2	2	3	5	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:43771250G>A	ENST00000389420.3	-	32	4912	c.4913C>T	c.(4912-4914)cCt>cTt	p.P1638L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1638	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1638H(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGGCACCACAGGGCATTCTTG	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											130	117	121					12																	43771250		2203	4300	6503	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"ADAM metallopeptidases with thrombospondin type 1 motif"	17178	protein-coding gene	gene with protein product		611681	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4913C>T	12.37:g.43771250G>A	ENSP00000374071:p.Pro1638Leu		A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P1638L	ENST00000389420.3	37	c.4913	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124280	0.56613	.	.	ENSG00000173157	ENST00000389420	T	0.60299	0.2	4.99	4.99	0.66335	.	0.000000	0.51477	D	0.000090	T	0.76622	0.4013	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.78770	-0.2074	10	0.66056	D	0.02	.	19.1624	0.93539	0.0:0.0:1.0:0.0	.	1638	P59510	ATS20_HUMAN	L	1638	ENSP00000374071:P1638L	ENSP00000374071:P1638L	P	-	2	0	ADAMTS20	42057517	1.000000	0.71417	0.978000	0.43139	0.150000	0.21749	6.896000	0.75665	2.709000	0.92574	0.655000	0.94253	CCT	ADAMTS20	-	NULL	ENSG00000173157		0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	-	0	47	0	G	NM_025003		43771250	-1	tier1	-	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	12.96	47	7	SNP	0.997	A	A	43771250	G	A	43771250	3	1	98	1	0	0	0	0	1	0	0	0	266	1000	35	3	850	3	ADAMTS20	12	43771250	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	22421353	43771250	90080645	72	28080											
C12orf56	115749	genome.wustl.edu	37	chr12	64712546	64712546	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaatttcacttatggAgttgtgatctggaagtccct	11	13	11	6	0	2	1	1	1	1	0	3	5	3	4	1	3	0	1	1	3	4	3	rs10671017|rs113411861	byFrequency	TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:64712546A>T	ENST00000543942.2	-	4	1329	c.703T>A	c.(703-705)Tcc>Acc	p.S235T	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Intron	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	235										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TCACTTATGGAGTTGTGATCT	0.448																																																	0													128	105	112					12																	64712546		692	1591	2283	SO:0001583	missense	0				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.703T>A	12.37:g.64712546A>T	ENSP00000446101:p.Ser235Thr			Missense_Mutation	SNP	NULL	p.S235T	ENST00000543942.2	37	c.703		12	.	.	.	.	.	.	.	.	.	.	A	1.995	-0.430849	0.04669	.	.	ENSG00000185306	ENST00000543942;ENST00000433716	.	.	.	4.98	3.81	0.43845	.	.	.	.	.	T	0.42743	0.1216	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.25984	-1.0116	5	.	.	.	.	9.1303	0.36841	0.8167:0.1833:0.0:0.0	.	.	.	.	T	235;237	.	.	S	-	1	0	C12orf56	62998813	0.975000	0.34042	0.021000	0.16686	0.004000	0.04260	2.364000	0.44187	0.999000	0.39023	0.460000	0.39030	TCC	C12orf56	-	NULL	ENSG00000185306		0.448	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2		0	63	0	A	NM_001099676		64712546	-1			no_errors	ENST00000543942	ensembl	human	putative	74_37	missense	6.74	83	6	SNP	0.101	T	T	64712546	A	T	64712546	3	4	98	1	0	0	0	0	1	0	0	0	1705	304	11	5	1205	5	C12orf56	12	64712546	Missense_Mutation	SNP	A	TCGA-LN-A49K-01A-11D-A247-09	20941296	64712546	69139349	73	28081											
MYBPC1	4604	genome.wustl.edu	37	chr12	102021559	102021559	+	Intron	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttcaggtttgggtagtcGggccctggagagaaaagatt	9	11	14	7	1	1	2	1	0	0	2	2	4	1	3	2	4	0	2	2	4	3	4	rs373356488		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:102021559G>T	ENST00000550270.1	+	4	103				MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R52L|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000549145.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R52L|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000452455.2_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R52L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTGGGTAGTCGGGCCCTGGAG	0.478																																																	1	Substitution - Missense(1)	lung(1)						G	LEU/ARG,LEU/ARG,,	0,4406		0,0,2203	147	130	136		155,155,,	4.7	1	12		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,intron	MYBPC1	NM_002465.2,NM_206819.1,NM_206820.1,NM_206821.1	102,102,,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,,	52/1172,52/1149,,	102021559	1,13005	2203	4300	6503	SO:0001627	intron_variant	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7549	protein-coding gene	gene with protein product		160794	"myosin-binding protein C, slow-type"			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.104-1653G>T	12.37:g.102021559G>T			B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R52L	ENST00000550270.1	37	c.155	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103744	0.56291	0.0	1.16E-4	ENSG00000196091	ENST00000361685;ENST00000540770;ENST00000361466	T;T	0.58506	0.35;0.33	5.62	4.72	0.59763	.	0.466114	0.16415	N	0.215403	T	0.35219	0.0924	N	0.14661	0.345	0.80722	D	1	B;B	0.34290	0.447;0.312	B;B	0.32583	0.148;0.148	T	0.21245	-1.0251	10	0.38643	T	0.18	.	5.3629	0.16098	0.2738:0.0:0.7262:0.0	.	52;52	G3XAE8;Q00872-2	.;.	L	52	ENSP00000354845:R52L;ENSP00000354849:R52L	ENSP00000354849:R52L	R	+	2	0	MYBPC1	100545690	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.502000	0.45398	2.634000	0.89283	0.655000	0.94253	CGG	MYBPC1	-	NULL	ENSG00000196091		0.478	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1	-	0	47	0	G			102021559	1	tier1	-	no_errors	ENST00000361466	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T	T	102021559	G	T	102021559	1	4	98	0	1	0	0	0	0	0	0	0	10049	1116	39	2		2	MYBPC1	12	102021559	Intron	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	37309013	102021559	31830336	74	28082											
ANKLE2	23141	genome.wustl.edu	37	chr12	133306568	133306568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaaatccgagacaggtGgcagatgggcttcctcccca	10	7	11	13	1	1	2	1	0	0	2	4	3	4	2	4	3	0	2	4	3	1	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr12:133306568G>A	ENST00000357997.5	-	11	2269	c.2180C>T	c.(2179-2181)cCa>cTa	p.P727L	ANKLE2_ENST00000539605.1_Missense_Mutation_p.P665L|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.P82L|ANKLE2_ENST00000542657.1_Missense_Mutation_p.P82L	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	727					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CGAGACAGGTGGCAGATGGGC	0.498																																																	0													91	95	94					12																	133306568		1949	4136	6085	SO:0001583	missense	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"Ankyrin repeat domain containing"	29101	protein-coding gene	gene with protein product	"LEM domain containing 7"		"KIAA0692"	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2180C>T	12.37:g.133306568G>A	ENSP00000350686:p.Pro727Leu		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom	p.P727L	ENST00000357997.5	37	c.2180	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785829	0.49997	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.42900	1.98;1.96;0.97;0.97;0.96	5.74	3.92	0.45320	.	0.374700	0.31697	N	0.007211	T	0.35799	0.0944	L	0.44542	1.39	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.14227	-1.0480	10	0.52906	T	0.07	-13.028	12.541	0.56169	0.1351:0.0:0.8649:0.0	.	727	Q86XL3	ANKL2_HUMAN	L	665;727;82;82;82	ENSP00000446268:P665L;ENSP00000350686:P727L;ENSP00000437807:P82L;ENSP00000438551:P82L;ENSP00000445760:P82L	ENSP00000350686:P727L	P	-	2	0	ANKLE2	131816641	0.286000	0.24305	0.001000	0.08648	0.008000	0.06430	3.280000	0.51677	0.892000	0.36259	0.645000	0.84053	CCA	ANKLE2	-	NULL	ENSG00000176915		0.498	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1		0	27	0	G			133306568	-1			no_errors	ENST00000357997	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.749	A	A	133306568	G	A	133306568	3	1	98	1	0	0	0	0	1	0	0	0	633	1348	47	3	648	3	ANKLE2	12	133306568	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	31285009	133306568	545327	75	28083											
EFHA1	221154	genome.wustl.edu	37	chr13	22113447	22113447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaccaaaattacctttatCgccaaggtctctgaaaaaag	17	9	5	10	1	1	1	0	1	1	0	3	1	1	1	3	1	2	0	3	1	9	3	rs140786216		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr13:22113447C>T	ENST00000382374.4	-	4	525	c.460G>A	c.(460-462)Gat>Aat	p.D154N		NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	154					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TTACCTTTATCGCCAAGGTCT	0.318																																																	0													58	58	58					13																	22113447		2203	4300	6503	SO:0001583	missense	0			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"EF-hand domain containing"	31830	protein-coding gene	gene with protein product		610632	"EF hand domain family A1", "EF-hand domain family, member A1"	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.460G>A	13.37:g.22113447C>T	ENSP00000371811:p.Asp154Asn		Q8N0T6|Q8NAX8	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.D154N	ENST00000382374.4	37	c.460	CCDS9297.1	13	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955253	0.73902	.	.	ENSG00000165487	ENST00000382374	T	0.80123	-1.34	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	D	0.82370	0.5022	L	0.31476	0.935	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.80299	-0.1441	10	0.30854	T	0.27	-11.7735	13.3443	0.60564	0.0:1.0:0.0:0.0	.	154	Q8IYU8	EFHA1_HUMAN	N	154	ENSP00000371811:D154N	ENSP00000371811:D154N	D	-	1	0	EFHA1	21011447	0.991000	0.36638	0.995000	0.50966	0.964000	0.63967	3.774000	0.55341	2.243000	0.73865	0.491000	0.48974	GAT	MICU2	-	NULL	ENSG00000165487		0.318	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICU2	HGNC	protein_coding	OTTHUMT00000144355.1	-	0	26	0	C	NM_152726		22113447	-1	tier1	-	no_errors	ENST00000382374	ensembl	human	known	74_37	missense	24.00	19	6	SNP	1.000	T	T	22113447	C	T	22113447	3	4	98	1	0	0	0	0	1	0	0	0	4957	884	31	1	880	1	EFHA1	13	22113447	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		22113447	93056431	76	28084											
FLT1	2321	genome.wustl.edu	37	chr13	28959159	28959159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttcgcaggaggtatggtGcttcctgatctagtgaagaa	9	12	14	6	1	1	3	0	2	1	1	3	4	2	4	1	4	1	4	1	4	4	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr13:28959159G>T	ENST00000282397.4	-	14	2230	c.1979C>A	c.(1978-1980)gCa>gAa	p.A660E	FLT1_ENST00000541932.1_Missense_Mutation_p.A660E	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	660					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGTATGGTGCTTCCTGATC	0.428																																																	0													194	173	180					13																	28959159		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1979C>A	13.37:g.28959159G>T	ENSP00000282397:p.Ala660Glu		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.A660E	ENST00000282397.4	37	c.1979	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661331	0.88154	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.43294	0.95;2.49	5.59	5.59	0.84812	Immunoglobulin-like fold (1);	0.125321	0.52532	D	0.000065	T	0.65790	0.2725	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.94	T	0.62238	-0.6896	10	0.24483	T	0.36	.	17.7786	0.88517	0.0:0.0:1.0:0.0	.	660;660	P17948-3;P17948	.;VGFR1_HUMAN	E	660	ENSP00000282397:A660E;ENSP00000437631:A660E	ENSP00000282397:A660E	A	-	2	0	FLT1	27857159	1.000000	0.71417	0.962000	0.40283	0.906000	0.53458	8.119000	0.89579	2.630000	0.89119	0.563000	0.77884	GCA	FLT1	-	NULL	ENSG00000102755		0.428	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0	58	0	G			28959159	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	8.06	57	5	SNP	0.999	T	T	28959159	G	T	28959159	3	4	98	1	0	0	0	0	1	0	0	0	5963	1319	46	3	2195	3	FLT1	13	28959159	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	6845712	28959159	86210719	77	28085											
OR5AU1	390445	genome.wustl.edu	37	chr14	21623754	21623754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtcatgcagccaaaataaGagatcactttcctcttggcc	12	10	8	11	0	3	1	2	0	1	1	4	3	4	1	3	1	2	1	3	1	3	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr14:21623754G>A	ENST00000304418.3	-	1	468	c.431C>T	c.(430-432)tCt>tTt	p.S144F		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCCAAAATAAGAGATCACTTT	0.512																																																	0													86	80	82					14																	21623754		2203	4300	6503	SO:0001583	missense	0			AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"GPCR / Class A : Olfactory receptors"	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.431C>T	14.37:g.21623754G>A	ENSP00000302057:p.Ser144Phe		B2RP78|Q6IEU2|Q96R10	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S144F	ENST00000304418.3	37	c.431	CCDS32042.1	14	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554100	0.27739	.	.	ENSG00000169327	ENST00000304418	T	0.00745	5.75	4.22	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04634	0.0126	M	0.82823	2.61	0.20926	N	0.999829	D	0.76494	0.999	D	0.67900	0.954	T	0.08046	-1.0741	9	0.87932	D	0	.	14.1451	0.65347	0.0:0.0:1.0:0.0	.	144	Q8NGC0	O5AU1_HUMAN	F	144	ENSP00000302057:S144F	ENSP00000302057:S144F	S	-	2	0	OR5AU1	20693594	0.937000	0.31787	0.089000	0.20774	0.149000	0.21700	3.884000	0.56175	2.189000	0.69895	0.313000	0.20887	TCT	OR5AU1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000169327		0.512	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AU1	HGNC	protein_coding	OTTHUMT00000410213.1		0	33	0	G			21623754	-1			no_errors	ENST00000304418	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.099	A	A	21623754	G	A	21623754	3	1	98	1	0	0	0	0	1	0	0	0	11186	942	33	3	660	3	OR5AU1	14	21623754	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		21623754	85725786	78	28086											
MDGA2	161357	genome.wustl.edu	37	chr14	47351393	47351393	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatattcccatttattttaAtctcctgctcccaccagcgc	9	14	4	14	1	1	0	0	0	1	0	4	1	3	0	4	0	2	1	4	0	4	6			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr14:47351393A>T	ENST00000399232.2	-	11	2427	c.2063T>A	c.(2062-2064)aTt>aAt	p.I688N	MDGA2_ENST00000399222.3_5'Flank|MDGA2_ENST00000426342.1_Missense_Mutation_p.I459N|MDGA2_ENST00000357362.3_Missense_Mutation_p.I459N|MDGA2_ENST00000439988.3_Missense_Mutation_p.I757N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	688	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATTTATTTTAATCTCCTGCTC	0.373																																																	0													62	59	60					14																	47351393		1821	4081	5902	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2063T>A	14.37:g.47351393A>T	ENSP00000382178:p.Ile688Asn		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.I757N	ENST00000399232.2	37	c.2270		14	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107326	0.77096	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.4	5.4	0.78164	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.52532	U	0.000079	T	0.65790	0.2725	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.68652	-0.5352	10	0.66056	D	0.02	.	14.2454	0.65986	1.0:0.0:0.0:0.0	.	459;688	F6W3S7;Q7Z553	.;MDGA2_HUMAN	N	688;459;757;459	ENSP00000400011:I688N;ENSP00000405456:I459N;ENSP00000382178:I757N;ENSP00000349925:I459N	ENSP00000349925:I459N	I	-	2	0	MDGA2	46421143	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.935000	0.92923	2.059000	0.61396	0.383000	0.25322	ATT	MDGA2	-	superfamily_Fibronectin_type3	ENSG00000272781		0.373	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	41	0	A	NM_182830		47351393	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	30.36	39	17	SNP	1.000	T	T	47351393	A	T	47351393	3	4	98	1	0	0	0	0	1	0	0	0	9445	101	4	5	835	5	MDGA2	14	47351393	Missense_Mutation	SNP	A	TCGA-LN-A49K-01A-11D-A247-09	25727639	47351393	59998147	79	28087											
RTN1	6252	genome.wustl.edu	37	chr14	60193708	60193708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccagggccctttgtggccGcaggactttggttggaactc	5	10	14	12	1	0	0	0	0	0	0	1	2	0	2	3	5	1	2	3	5	1	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr14:60193708G>A	ENST00000267484.5	-	3	2029	c.1694C>T	c.(1693-1695)gCg>gTg	p.A565V		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	565					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.A565E(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTTGTGGCCGCAGGACTTTG	0.617																																																	1	Substitution - Missense(1)	lung(1)											23	25	24					14																	60193708		2203	4300	6503	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1694C>T	14.37:g.60193708G>A	ENSP00000267484:p.Ala565Val		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.A565V	ENST00000267484.5	37	c.1694	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	G	4.575	0.106728	0.08780	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.22336	1.96	4.76	-9.36	0.00629	.	3.925960	0.00531	N	0.000202	T	0.08758	0.0217	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15665	-1.0429	10	0.27785	T	0.31	.	3.1537	0.06497	0.4605:0.0842:0.2864:0.1689	.	565	Q16799	RTN1_HUMAN	V	145;565;491	ENSP00000267484:A565V	ENSP00000267484:A565V	A	-	2	0	RTN1	59263461	0.022000	0.18835	0.000000	0.03702	0.003000	0.03518	0.394000	0.20834	-1.933000	0.01052	-1.595000	0.00837	GCG	RTN1	-	NULL	ENSG00000139970		0.617	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0	58	0	G			60193708	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	43.84	41	32	SNP	0.000	A	A	60193708	G	A	60193708	3	1	98	1	0	0	0	0	1	0	0	0	13770	1087	38	1	729	1	RTN1	14	60193708	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	12842315	60193708	47155832	80	28088											
PRKCH	5583	genome.wustl.edu	37	chr14	61788845	61788845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctggcaccatgaagttcaAtggctatttgagggtccgca	9	11	12	9	1	2	2	1	2	1	0	3	2	3	2	2	3	0	4	2	3	3	3	rs371540089		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr14:61788845A>G	ENST00000332981.5	+	1	411	c.26A>G	c.(25-27)aAt>aGt	p.N9S	PRKCH_ENST00000555082.1_5'Flank|RP11-902B17.1_ENST00000500036.2_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	9					blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		ATGAAGTTCAATGGCTATTTG	0.692																																					Melanoma(135;863 1779 8064 14443 26348)												0								A	SER/ASN	2,4402		0,2,2200	19	18	18		26	3.6	1	14		18	0,8590		0,0,4295	no	missense	PRKCH	NM_006255.3	46	0,2,6495	GG,GA,AA		0.0,0.0454,0.0154	benign	9/684	61788845	2,12992	2202	4295	6497	SO:0001583	missense	0			M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.26A>G	14.37:g.61788845A>G	ENSP00000329127:p.Asn9Ser		B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.N9S	ENST00000332981.5	37	c.26	CCDS9752.1	14	.	.	.	.	.	.	.	.	.	.	A	11.14	1.551772	0.27739	4.54E-4	0.0	ENSG00000027075	ENST00000557294;ENST00000332981	T;T	0.08546	3.08;3.08	4.76	3.62	0.41486	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000008	T	0.07954	0.0199	L	0.43152	1.355	0.80722	D	1	B	0.15719	0.014	B	0.17722	0.019	T	0.21211	-1.0252	10	0.29301	T	0.29	.	9.051	0.36376	0.8443:0.0:0.1557:0.0	.	9	P24723	KPCL_HUMAN	S	9	ENSP00000452129:N9S;ENSP00000329127:N9S	ENSP00000329127:N9S	N	+	2	0	PRKCH	60858598	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.004000	0.49513	0.682000	0.31407	0.533000	0.62120	AAT	PRKCH	-	superfamily_C2_dom,pirsf_Prot_kin_PKC_delta	ENSG00000027075		0.692	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCH	HGNC	protein_coding	OTTHUMT00000276974.2	-	0	26	0	A	NM_006255		61788845	1	tier1	-	no_errors	ENST00000332981	ensembl	human	known	74_37	missense	47.22	19	17	SNP	1.000	G	G	61788845	A	G	61788845	3	3	98	1	0	0	0	0	1	0	0	0	12555	101	4	4	28	4	PRKCH	14	61788845	Missense_Mutation	SNP	A	TCGA-LN-A49K-01A-11D-A247-09	1595137	61788845	45560695	81	28089											
DIO2	1734	genome.wustl.edu	37	chr14	80677773	80677773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggagaaaaaaactggcaGaatttgcagtgtgatcagca	15	9	12	5	0	1	3	1	1	0	2	1	4	1	3	0	2	3	4	0	2	4	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr14:80677773G>T	ENST00000557010.1	-	3	428	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	DIO2_ENST00000555750.1_Missense_Mutation_p.L15M|DIO2_ENST00000422005.3_Missense_Mutation_p.L15M|DIO2_ENST00000438257.4_Missense_Mutation_p.L15M|DIO2-AS1_ENST00000553979.1_RNA|DIO2_ENST00000557125.1_Missense_Mutation_p.L15M	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	15					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAAACTGGCAGAATTTGCAGT	0.532																																																	0													35	38	37					14																	80677773		2047	4175	6222	SO:0001583	missense	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.43C>A	14.37:g.80677773G>T	ENSP00000451419:p.Leu15Met		B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	pfam_Iodothyronine_deiodinase	p.L15M	ENST00000557010.1	37	c.43	CCDS45146.1	14	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177315	0.38413	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000422005;ENST00000555750;ENST00000388838;ENST00000557125;ENST00000554188	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.7	4.81	0.61882	.	0.108239	0.38272	N	0.001757	T	0.58264	0.2110	M	0.84433	2.695	0.42677	D	0.993539	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.63773	-0.6561	10	0.87932	D	0	.	5.4515	0.16568	0.268:0.0:0.732:0.0	.	15;15;15;15	Q92813-2;Q92813;G3V315;A8K845	.;IOD2_HUMAN;.;.	M	15	ENSP00000405854:L15M;ENSP00000451419:L15M;ENSP00000411438:L15M;ENSP00000450980:L15M;ENSP00000451136:L15M	ENSP00000373490:L15M	L	-	1	2	DIO2	79747526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.032000	0.57274	2.677000	0.91161	0.650000	0.86243	CTG	DIO2	-	pfam_Iodothyronine_deiodinase	ENSG00000211448		0.532	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO2	HGNC	protein_coding	OTTHUMT00000413428.2	-	0	24	0	G			80677773	-1	tier1	-	no_errors	ENST00000422005	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	T	T	80677773	G	T	80677773	3	4	98	1	0	0	0	0	1	0	0	0	4539	933	33	3	898	3	DIO2	14	80677773	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	18888928	80677773	26671767	82	28090											
DYNC1H1	1778	genome.wustl.edu	37	chr14	102460527	102460527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggttggctaggtgggtGtacattacgaattgactgag	8	14	14	5	1	0	2	0	2	0	0	0	3	0	2	0	4	2	3	0	4	4	6			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr14:102460527G>T	ENST00000360184.4	+	12	3186	c.3022G>T	c.(3022-3024)Gta>Tta	p.V1008L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1008	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTAGGTGGGTGTACATTACGA	0.403																																																	0													267	240	249					14																	102460527		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.3022G>T	14.37:g.102460527G>T	ENSP00000348965:p.Val1008Leu		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V1008L	ENST00000360184.4	37	c.3022	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617395	0.28801	.	.	ENSG00000197102	ENST00000360184	T	0.65364	-0.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	N	0.00471	-1.455	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49844	-0.8896	10	0.02654	T	1	.	20.0011	0.97409	0.0:0.0:1.0:0.0	.	1008	Q14204	DYHC1_HUMAN	L	1008	ENSP00000348965:V1008L	ENSP00000348965:V1008L	V	+	1	0	DYNC1H1	101530280	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	9.826000	0.99387	2.735000	0.93741	0.557000	0.71058	GTA	DYNC1H1	-	NULL	ENSG00000197102		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0	62	0	G	NM_001376		102460527	1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	42.65	39	29	SNP	1.000	T	T	102460527	G	T	102460527	3	4	98	1	0	0	0	0	1	0	0	0	4855	1377	48	3	3068	3	DYNC1H1	14	102460527	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	21782754	102460527	4889013	83	28091											
RPAP1	26015	genome.wustl.edu	37	chr15	41829177	41829177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcccgatggtcctggagCggaggccggtctgagttggc	6	8	16	11	3	1	1	0	1	1	0	3	4	3	3	3	6	1	1	3	6	0	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr15:41829177C>T	ENST00000304330.4	-	2	263	c.147G>A	c.(145-147)ccG>ccA	p.P49P	RPAP1_ENST00000561603.1_Silent_p.P49P	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	49						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGTCCTGGAGCGGAGGCCGGT	0.582																																																	0													172	155	161					15																	41829177		2203	4300	6503	SO:0001819	synonymous_variant	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.147G>A	15.37:g.41829177C>T			Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Silent	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.P49	ENST00000304330.4	37	c.147	CCDS10079.1	15																																																																																			RPAP1	-	NULL	ENSG00000103932		0.582	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	-	0	20	0	C	NM_015540		41829177	-1	tier1	-	no_errors	ENST00000304330	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.000	T	T	41829177	C	T	41829177	2	4	98	1	0	0	0	0	0	0	0	1	13586	755	27	1		1	RPAP1	15	41829177	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		41829177	60702215	84	28092											
SIN3A	25942	genome.wustl.edu	37	chr15	75668064	75668064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcctctgatttgatcacaTacaccatcttgtaggaattc	11	14	6	10	0	3	2	1	2	2	0	5	3	4	3	2	1	1	1	2	1	3	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr15:75668064T>C	ENST00000394947.3	-	20	3847	c.3533A>G	c.(3532-3534)tAt>tGt	p.Y1178C	SIN3A_ENST00000360439.4_Missense_Mutation_p.Y1178C|SIN3A_ENST00000394949.4_Missense_Mutation_p.Y1178C	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TTTGATCACATACACCATCTT	0.468																																																	0													246	196	213					15																	75668064		2197	4294	6491	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.3533A>G	15.37:g.75668064T>C	ENSP00000378402:p.Tyr1178Cys			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.Y1178C	ENST00000394947.3	37	c.3533	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	T	23.1	4.373453	0.82573	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.62498	0.02;0.02;0.02	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.80236	-0.1466	10	0.87932	D	0	-14.0574	14.2605	0.66083	0.0:0.0:0.0:1.0	.	1178	Q96ST3	SIN3A_HUMAN	C	1178	ENSP00000378402:Y1178C;ENSP00000378403:Y1178C;ENSP00000353622:Y1178C	ENSP00000353622:Y1178C	Y	-	2	0	SIN3A	73455117	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.966000	0.63715	1.980000	0.57719	0.533000	0.62120	TAT	SIN3A	-	NULL	ENSG00000169375		0.468	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	-	0	34	0	T	NM_015477		75668064	-1	tier1	-	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	C	C	75668064	T	C	75668064	3	2	98	1	0	0	0	0	1	0	0	0	14370	1406	49	4	296	4	SIN3A	15	75668064	Missense_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	33838887	75668064	26863328	85	28093											
CREBBP	1387	genome.wustl.edu	37	chr16	3807902	3807902	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcaaaacttatagactcGggatgtcttgcgattataga	13	12	9	7	2	1	2	0	0	1	2	2	4	1	3	0	1	3	1	0	1	6	5			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr16:3807902G>A	ENST00000262367.5	-	18	4326	c.3517C>T	c.(3517-3519)Cga>Tga	p.R1173*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.R1135*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1173	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A. {ECO:0000269|PubMed:24616510}.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R1173*(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTATAGACTCGGGATGTCTTG	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	2	Substitution - Nonsense(2)	urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	GRCh37	CM065105	CREBBP	M							140	119	126					16																	3807902		2197	4300	6497	SO:0001587	stop_gained	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3517C>T	16.37:g.3807902G>A	ENSP00000262367:p.Arg1173*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.R1173*	ENST00000262367.5	37	c.3517	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	49	15.463467	0.99834	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.59	3.48	0.39840	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.8768	15.2905	0.73862	0.0:0.0:0.6645:0.3355	.	.	.	.	X	1173;1203;1135	.	ENSP00000262367:R1173X	R	-	1	2	CREBBP	3747903	1.000000	0.71417	0.980000	0.43619	0.993000	0.82548	3.494000	0.53273	1.338000	0.45544	0.585000	0.79938	CGA	CREBBP	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000005339		0.507	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	-	0	11	0	G	NM_004380		3807902	-1	tier1	-	no_errors	ENST00000262367	ensembl	human	known	74_37	nonsense	24.00	19	6	SNP	0.997	A	A	3807902	G	A	3807902	4	1	98	1	0	0	0	0	0	1	0	0	3868	1124	39	1	3867	1	CREBBP	16	3807902	Nonsense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		3807902	86546851	86	28094											
SMG1	23049	genome.wustl.edu	37	chr16	18840639	18840639	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatgcagctgaacccgcTgcaggcttgtcttacaagaa	12	9	9	11	1	1	2	0	1	1	1	1	2	1	2	1	1	5	5	1	1	6	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr16:18840639T>A	ENST00000446231.2	-	54	9984	c.9572A>T	c.(9571-9573)cAg>cTg	p.Q3191L	SMG1_ENST00000389467.3_Missense_Mutation_p.Q3191L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3191					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTGAACCCGCTGCAGGCTTGT	0.413																																																	0													45	42	43					16																	18840639		1879	4108	5987	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9572A>T	16.37:g.18840639T>A	ENSP00000402515:p.Gln3191Leu		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q3191L	ENST00000446231.2	37	c.9572	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633991	0.67130	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01203	5.18;5.18	5.71	5.71	0.89125	.	0.097264	0.45867	N	0.000332	T	0.01222	0.0040	N	0.20986	0.625	0.50632	D	0.999882	P	0.43477	0.808	B	0.37144	0.242	T	0.77694	-0.2492	10	0.36615	T	0.2	.	16.0341	0.80608	0.0:0.0:0.0:1.0	.	3191	Q96Q15	SMG1_HUMAN	L	3191	ENSP00000402515:Q3191L;ENSP00000374118:Q3191L	ENSP00000374118:Q3191L	Q	-	2	0	SMG1	18748140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.008000	0.88588	2.178000	0.69098	0.472000	0.43445	CAG	SMG1	-	NULL	ENSG00000157106		0.413	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1		0	14	0	T	NM_015092		18840639	-1			no_errors	ENST00000389467	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	18840639	T	A	18840639	3	1	98	1	0	0	0	0	1	0	0	0	14840	1580	55	5	1453	5	SMG1	16	18840639	Missense_Mutation	SNP	T	TCGA-LN-A49K-01A-11D-A247-09	15032737	18840639	71514114	87	28095											
SRCAP	10847	genome.wustl.edu	37	chr16	30745119	30745119	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggatgtccacatatataGgtattgcctagtcttccctc	8	13	8	12	1	1	0	0	0	1	0	4	1	3	1	4	2	1	1	4	2	5	7			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr16:30745119G>C	ENST00000262518.4	+	29	6879	c.6494G>C	c.(6493-6495)aGg>aCg	p.R2165T	SRCAP_ENST00000395059.2_Splice_Site_p.R2103T|SRCAP_ENST00000344771.4_Splice_Site_p.R2007T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2165	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CACATATATAGGTATTGCCTA	0.502																																																	0													105	106	106					16																	30745119		2197	4300	6497	SO:0001630	splice_region_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6494+1G>C	16.37:g.30745119G>C			B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R2165T	ENST00000262518.4	37	c.6494	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728267	0.30593	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.96041	-3.89;-3.89;-3.89	5.09	4.13	0.48395	Helicase, C-terminal (1);	0.000000	0.53938	D	0.000050	D	0.97554	0.9199	M	0.90425	3.115	0.41493	D	0.988231	D;D	0.76494	0.999;0.995	P;P	0.59948	0.866;0.617	D	0.98419	1.0576	10	0.87932	D	0	-11.9834	13.9616	0.64182	0.0:0.0:0.8469:0.1531	.	2103;2165	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	T	2165;2103;2007	ENSP00000262518:R2165T;ENSP00000378499:R2103T;ENSP00000343042:R2007T	ENSP00000262518:R2165T	R	+	2	0	SRCAP	30652620	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	9.578000	0.98200	1.348000	0.45733	0.563000	0.77884	AGG	SRCAP	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000080603		0.502	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0	33	0	G	NM_006662	Missense_Mutation	30745119	1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	40.74	32	22	SNP	1.000	C	C	30745119	G	C	30745119	5	2	98	1	0	0	0	0	0	0	1	0	15182	1014	35	5	6600	5	SRCAP	16	30745119	Splice_Site	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	11904480	30745119	59609634	88	28096											
SMYD4	114826	genome.wustl.edu	37	chr17	1703986	1703986	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctacgcataagccgatGgatgatgaggcattggaaag	13	8	14	6	2	1	2	0	2	1	0	1	6	1	5	1	4	2	2	1	4	3	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr17:1703986G>T	ENST00000305513.7	-	5	869	c.702C>A	c.(700-702)tcC>tcA	p.S234S		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	234	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ATAAGCCGATGGATGATGAGG	0.507																																																	0													175	168	171					17																	1703986		2203	4300	6503	SO:0001819	synonymous_variant	0			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.702C>A	17.37:g.1703986G>T			Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.S234	ENST00000305513.7	37	c.702	CCDS11013.1	17																																																																																			SMYD4	-	NULL	ENSG00000186532		0.507	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4		0	34	0	G	XM_056082		1703986	-1			no_errors	ENST00000305513	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.667	T	T	1703986	G	T	1703986	2	4	98	1	0	0	0	0	0	0	0	1	14869	1335	47	3		3	SMYD4	17	1703986	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		1703986	79491224	89	28097											
TP53	7157	genome.wustl.edu	37	chr17	7579321	7579322	+	Frame_Shift_Del	DEL	CA	CA	-																															gggcaactgaccgtgcaagtCacagacttggctgtcccaga																								rs587780067		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr17:7579321_7579322delCA	ENST00000269305.4	-	4	554_555	c.365_366delTG	c.(364-366)gtgfs	p.V122fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V122fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> L (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGTGCAAGTCACAGACTTGGC	0.554		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	23	Deletion - Frameshift(13)|Whole gene deletion(8)|Deletion - In frame(2)	upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|breast(2)|stomach(1)|liver(1)|ovary(1)	GRCh37	CM065494	TP53	M																																				SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.365_366delTG	17.37:g.7579323_7579324delCA	ENSP00000269305:p.Val122fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V122fs	ENST00000269305.4	37	c.366_365	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.554	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	63	0	CA	NM_000546		7579322	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	58.00	21	29	DEL	0.949:0.997	-	-	7579322	CA	-	7579321	7	5	98	1	0	1	0	1	0	0	0	0	16429	813	29	0	936	0	TP53	17	7579321	Frame_Shift_Del	DEL	CA	TCGA-LN-A49K-01A-11D-A247-09	5875335	7579321	73615889	90	28098											
DNAJC7	7266	genome.wustl.edu	37	chr17	40149135	40149135	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccattacatacatacccGgacaaaactgtcatccaacc	14	7	4	16	1	1	0	1	0	0	0	2	1	2	1	5	1	5	0	5	1	6	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr17:40149135G>T	ENST00000457167.4	-	3	525	c.289C>A	c.(289-291)Cgg>Agg	p.R97R	DNAJC7_ENST00000426588.3_Silent_p.R41R|DNAJC7_ENST00000316603.7_Silent_p.R41R	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	97					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				ATACATACCCGGACAAAACTG	0.483																																					Colon(63;618 1117 8600 10857 19751)												0													108	102	104					17																	40149135		1958	4122	6080	SO:0001819	synonymous_variant	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.289C>A	17.37:g.40149135G>T			Q7Z784	Silent	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.R97	ENST00000457167.4	37	c.289	CCDS45677.1	17																																																																																			DNAJC7	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000168259		0.483	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	HGNC	protein_coding	OTTHUMT00000453366.2		0	46	0	G			40149135	-1			no_errors	ENST00000457167	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	40149135	G	T	40149135	2	4	98	1	0	0	0	0	0	0	0	1	4668	1115	39	2		2	DNAJC7	17	40149135	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	32569814	40149135	41046075	91	28099											
KPNB1	3837	genome.wustl.edu	37	chr17	45750492	45750492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccagaaaacgactttGgtcatcatggaacgactgca	12	9	10	10	2	2	1	2	0	0	1	3	4	3	2	1	2	3	2	1	2	3	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr17:45750492G>T	ENST00000290158.4	+	13	2063	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	KPNB1_ENST00000535458.2_Missense_Mutation_p.L407F|KPNB1_ENST00000540627.1_Missense_Mutation_p.L407F|KPNB1_ENST00000537679.1_Missense_Mutation_p.L336F	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	552					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L552F(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAACGACTTTGGTCATCATGG	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											125	119	121					17																	45750492		2203	4300	6503	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1656G>T	17.37:g.45750492G>T	ENSP00000290158:p.Leu552Phe		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.L552F	ENST00000290158.4	37	c.1656	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.52	-2.18	0.07037	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	L	0.50333	1.59	0.38797	D	0.955109	P;P	0.46784	0.884;0.776	B;B	0.40782	0.34;0.198	T	0.60301	-0.7290	9	0.56958	D	0.05	-16.5928	7.3697	0.26794	0.4933:0.1129:0.3938:0.0	.	336;552	F5H4R7;Q14974	.;IMB1_HUMAN	F	407;552;407;336	ENSP00000438253:L407F;ENSP00000290158:L552F;ENSP00000438964:L407F;ENSP00000445006:L336F	ENSP00000290158:L552F	L	+	3	2	KPNB1	43105491	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	1.490000	0.35573	-0.010000	0.14271	0.655000	0.94253	TTG	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.463	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	-	0	52	0	G	NM_002265		45750492	1	tier1	-	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.952	T	T	45750492	G	T	45750492	3	4	98	1	0	0	0	0	1	0	0	0	8462	1339	47	3	1706	3	KPNB1	17	45750492	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	5601357	45750492	35444718	92	28100											
SSTR2	6752	genome.wustl.edu	37	chr17	71165533	71165533	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgacctcaatggctctgtGgtgtcaaccaacacctcaaa	11	11	7	12	0	4	1	3	1	1	0	4	1	4	1	3	2	2	1	3	2	4	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr17:71165533G>T	ENST00000357585.2	+	2	444	c.75G>T	c.(73-75)gtG>gtT	p.V25V	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Silent_p.V25V	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	25					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ATGGCTCTGTGGTGTCAACCA	0.478																																																	0													171	122	138					17																	71165533		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"GPCR / Class A : Somatostatin receptors"	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.75G>T	17.37:g.71165533G>T			A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_2,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5	p.V25	ENST00000357585.2	37	c.75	CCDS11691.1	17																																																																																			SSTR2	-	prints_Somatstn_rcpt_2	ENSG00000180616		0.478	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR2	HGNC	protein_coding	OTTHUMT00000441633.1	-	0	45	0	G			71165533	1	tier1	-	no_errors	ENST00000357585	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.008	T	T	71165533	G	T	71165533	2	4	98	1	0	0	0	0	0	0	0	1	15245	1335	47	3		3	SSTR2	17	71165533	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	25415041	71165533	10029677	93	28101											
C17orf28	283987	genome.wustl.edu	37	chr17	72958339	72958339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagctcaccggttcatatCgtggatgtagttaggctggg	8	11	14	8	3	2	0	2	0	0	0	3	2	2	1	1	4	1	5	1	4	4	4	rs141799560		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr17:72958339C>A	ENST00000425042.2	-	5	678	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	201					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CGGTTCATATCGTGGATGTAG	0.647																																																	0													46	48	48					17																	72958339		2203	4300	6503	SO:0001583	missense	0				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"downregulated in multiple cancer 1"	605752	"chromosome 17 open reading frame 28"	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.601G>T	17.37:g.72958339C>A	ENSP00000413520:p.Asp201Tyr		Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	pfam_Dymeclin	p.D201Y	ENST00000425042.2	37	c.601	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633855	0.67130	.	.	ENSG00000167861	ENST00000425042;ENST00000530857	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.75961	0.3921	M	0.79343	2.45	0.80722	D	1	B;P	0.36599	0.183;0.56	B;P	0.45998	0.275;0.5	T	0.78894	-0.2024	9	0.52906	T	0.07	.	17.5269	0.87803	0.0:1.0:0.0:0.0	.	200;201	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	Y	201;93	.	ENSP00000413520:D201Y	D	-	1	0	C17orf28	70469934	1.000000	0.71417	0.999000	0.59377	0.438000	0.31896	7.811000	0.86092	2.150000	0.67090	0.313000	0.20887	GAT	HID1	-	NULL	ENSG00000167861		0.647	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2	-	0	33	0	C	NM_030630		72958339	-1	tier1	-	no_errors	ENST00000425042	ensembl	human	known	74_37	missense	61.29	12	19	SNP	1.000	A	A	72958339	C	A	72958339	3	1	98	1	0	0	0	0	1	0	0	0	1859	884	31	2	1825	2	C17orf28	17	72958339	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	1792806	72958339	8236871	94	28102											
VPS4B	9525	genome.wustl.edu	37	chr18	61077552	61077552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgctggactcggctgtccTtctttcactggcttctgtgc	2	16	10	13	1	4	0	1	0	3	0	6	1	5	1	1	3	2	3	1	3	0	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr18:61077552T>C	ENST00000238497.5	-	3	470	c.267A>G	c.(265-267)gaA>gaG	p.E89E	VPS4B_ENST00000591519.1_Silent_p.E89E	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	89					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TCGGCTGTCCTTCTTTCACTG	0.353																																																	0													217	200	206					18																	61077552		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"ATPases / AAA-type"	10895	protein-coding gene	gene with protein product		609983	"suppressor of K+ transport defect 1", "vacuolar protein sorting 4B (yeast)"	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.267A>G	18.37:g.61077552T>C			Q69HW4|Q9GZS7	Silent	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase	p.E89	ENST00000238497.5	37	c.267	CCDS11983.1	18																																																																																			VPS4B	-	NULL	ENSG00000119541		0.353	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	-	0	37	0	T	NM_004869		61077552	-1	tier1	-	no_errors	ENST00000238497	ensembl	human	known	74_37	silent	46.77	33	29	SNP	0.999	C	C	61077552	T	C	61077552	2	2	98	1	0	0	0	0	0	0	0	1	17262	1606	56	4		4	VPS4B	18	61077552	Silent	SNP	T	TCGA-LN-A49K-01A-11D-A247-09		61077552	16999696	95	28103											
ZNF565	147929	genome.wustl.edu	37	chr19	36674504	36674504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtctctcaaactggccttCgcattcccagtcagctctaa	8	13	6	14	1	4	0	2	0	2	0	7	0	5	0	2	1	2	2	2	1	2	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr19:36674504C>T	ENST00000355114.5	-	5	1210	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	ZNF565_ENST00000304116.5_Missense_Mutation_p.E122K|ZNF565_ENST00000392173.2_Missense_Mutation_p.E122K			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			AACTGGCCTTCGCATTCCCAG	0.458																																																	0													213	191	199					19																	36674504		2203	4300	6503	SO:0001583	missense	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"Zinc fingers, C2H2-type", "-"	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.484G>A	19.37:g.36674504C>T	ENSP00000347234:p.Glu162Lys		B3KQ35|Q6NUS2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E122K	ENST00000355114.5	37	c.364		19	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.908826	0.00508	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.06371	3.31;3.31;3.33	4.63	1.1	0.20463	.	0.911015	0.09155	N	0.840983	T	0.02047	0.0064	N	0.01656	-0.775	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	10	0.02654	T	1	.	8.8083	0.34952	0.0:0.2106:0.0:0.7894	.	122	Q8N9K5	ZN565_HUMAN	K	122;122;162	ENSP00000376013:E122K;ENSP00000306869:E122K;ENSP00000347234:E162K	ENSP00000306869:E122K	E	-	1	0	ZNF565	41366344	0.000000	0.05858	0.156000	0.22583	0.058000	0.15608	0.316000	0.19469	0.300000	0.22699	-1.015000	0.02457	GAA	ZNF565	-	NULL	ENSG00000196357		0.458	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	-	0	21	0	C	NM_152477		36674504	-1	tier1	-	no_errors	ENST00000304116	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.025	T	T	36674504	C	T	36674504	3	4	98	1	0	0	0	0	1	0	0	0	18044	893	31	1	1139	1	ZNF565	19	36674504	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		36674504	22454479	96	28104											
MARK4	57787	genome.wustl.edu	37	chr19	45801428	45801428	+	Intron	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcgatccctctaaacggcaGaactctaaccgctgtgtttc	9	11	7	14	3	2	1	0	0	2	1	5	2	3	1	2	1	3	3	2	1	4	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr19:45801428G>C	ENST00000262891.4	+	15	2208				MARK4_ENST00000300843.4_Missense_Mutation_p.Q635H	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4						microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTAAACGGCAGAACTCTAACC	0.612																																																	0													167	131	143					19																	45801428		2203	4300	6503	SO:0001627	intron_variant	0			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"MAP/microtubule affinity-regulating kinase like 1"	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1877+216G>C	19.37:g.45801428G>C			Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q635H	ENST00000262891.4	37	c.1905	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	G	15.44	2.835294	0.50951	.	.	ENSG00000007047	ENST00000300843	T	0.71579	-0.58	4.83	3.79	0.43588	.	.	.	.	.	T	0.68201	0.2975	N	0.08118	0	0.26655	N	0.972012	D	0.64830	0.994	D	0.75484	0.986	T	0.60821	-0.7187	9	0.52906	T	0.07	.	10.6789	0.45802	0.0952:0.0:0.9048:0.0	.	635	Q96L34-2	.	H	635	ENSP00000300843:Q635H	ENSP00000300843:Q635H	Q	+	3	2	MARK4	50493268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.713000	0.68415	1.027000	0.39758	0.454000	0.30748	CAG	MARK4	-	NULL	ENSG00000007047		0.612	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	HGNC	protein_coding	OTTHUMT00000457537.1	-	0	67	0	G	NM_031417		45801428	1	tier1	-	no_errors	ENST00000300843	ensembl	human	known	74_37	missense	27.42	45	17	SNP	1.000	C	C	45801428	G	C	45801428	1	2	98	0	1	0	0	0	0	0	0	0	9353	933	33	5		5	MARK4	19	45801428	Intron	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	9126924	45801428	13327555	97	28105											
MYBPC2	4606	genome.wustl.edu	37	chr19	50951588	50951588	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaaagtgacgggcaagtgGtataagaatggggtcgaggt	13	7	18	3	2	0	3	0	1	0	2	1	5	0	3	0	5	0	2	0	5	5	2	rs34373957		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr19:50951588G>A	ENST00000357701.5	+	13	1464	c.1413G>A	c.(1411-1413)tgG>tgA	p.W471*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	471	Ig-like C2-type 4.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGGGCAAGTGGTATAAGAATG	0.577																																																	0								G	stop/TRP	1,4099		0,1,2049	151	155	154		1413	3.7	1	19	dbSNP_126	154	0,8412		0,0,4206	no	stop-gained	MYBPC2	NM_004533.3		0,1,6255	AA,AG,GG		0.0,0.0244,0.0080		471/1142	50951588	1,12511	2050	4206	6256	SO:0001587	stop_gained	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7550	protein-coding gene	gene with protein product	"fast-type muscle myosin-binding-protein C"	160793	"myosin-binding protein C, fast-type"			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1413G>A	19.37:g.50951588G>A	ENSP00000350332:p.Trp471*		A1L4G9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W471*	ENST00000357701.5	37	c.1413	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	g	37	6.632201	0.97722	2.44E-4	0.0	ENSG00000086967	ENST00000357701	.	.	.	3.7	3.7	0.42460	.	0.000000	0.35970	U	0.002862	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1811	0.72960	0.0:0.0:1.0:0.0	.	.	.	.	X	471	.	ENSP00000350332:W471X	W	+	3	0	MYBPC2	55643400	1.000000	0.71417	0.996000	0.52242	0.853000	0.48598	8.924000	0.92827	2.039000	0.60335	0.473000	0.43528	TGG	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000086967		0.577	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	-	0	40	0	G	NM_004533		50951588	1	tier1	-	no_errors	ENST00000357701	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	1.000	A	A	50951588	G	A	50951588	4	1	98	1	0	0	0	0	0	1	0	0	10050	1270	44	3	1463	3	MYBPC2	19	50951588	Nonsense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	5150160	50951588	8177395	98	28106											
U2AF2	11338	genome.wustl.edu	37	chr19	56171899	56171901	+	In_Frame_Del	DEL	AGA	AGA	-																															cagtcgttccccccgccacgAgaagaagaagaaggtccgta																										TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr19:56171899_56171901delAGA	ENST00000308924.4	+	4	288_290	c.248_250delAGA	c.(247-252)gagaag>gag	p.K87del	U2AF2_ENST00000450554.2_In_Frame_Del_p.K87del|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_5'Flank|CTD-2537I9.12_ENST00000585940.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	87	Required for interaction with PRPF19. {ECO:0000269|PubMed:21536736}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCCCGCCACGAGAAGAAGAAGAA	0.645																																																	0																																										SO:0001651	inframe_deletion	0			BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"RNA binding motif (RRM) containing"	23156	protein-coding gene	gene with protein product	"U2 small nuclear ribonucleoprotein auxiliary factor (65kD)", "splicing factor U2AF 65 kD subunit", "U2 snRNP auxiliary factor large subunit"	191318	"U2 (RNU2) small nuclear RNA auxiliary factor 2"			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.248_250delAGA	19.37:g.56171908_56171910delAGA	ENSP00000307863:p.Lys87del		Q96HC5	In_Frame_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	p.K87in_frame_del	ENST00000308924.4	37	c.248_250	CCDS12933.1	19																																																																																			U2AF2	-	tigrfam_U2AF_lg	ENSG00000063244		0.645	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF2	HGNC	protein_coding	OTTHUMT00000453599.1		0	20	0	AGA	NM_007279		56171901	1	tier1		no_errors	ENST00000308924	ensembl	human	known	74_37	in_frame_del	6.67	28	2	DEL	1.000:1.000:1.000	-	-	56171901	AGA	-	56171899	7	5	98	1	0	1	0	1	0	0	0	0	16872	304	11	0	262	0	U2AF2	19	56171899	In_Frame_Del	DEL	AGA	TCGA-LN-A49K-01A-11D-A247-09	5220311	56171899	2957084	99	28107											
PLTP	5360	genome.wustl.edu	37	chr20	44538215	44538215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcctggcaggagacattgGacactttcatccgtccagcg	9	8	12	12	2	1	1	1	0	0	1	3	3	3	2	3	4	1	1	3	4	0	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr20:44538215G>T	ENST00000477313.1	-	4	1019	c.425C>A	c.(424-426)tCc>tAc	p.S142Y	PLTP_ENST00000542937.1_Missense_Mutation_p.S162Y|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.S54Y|PLTP_ENST00000372431.3_Missense_Mutation_p.S142Y			P55058	PLTP_HUMAN	phospholipid transfer protein	142					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GGAGACATTGGACACTTTCAT	0.617																																																	0													75	72	73					20																	44538215		2203	4300	6503	SO:0001583	missense	0			L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"BPI fold containing"	9093	protein-coding gene	gene with protein product	"BPI fold containing family E"	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.425C>A	20.37:g.44538215G>T	ENSP00000417138:p.Ser142Tyr		A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.S162Y	ENST00000477313.1	37	c.485	CCDS13386.1	20	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424249	0.62733	.	.	ENSG00000100979	ENST00000372420;ENST00000372431;ENST00000477313;ENST00000542937	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.97	4.02	0.46733	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.362430	0.32093	N	0.006591	T	0.20129	0.0484	M	0.68593	2.085	0.47214	D	0.999358	D;D;D;D	0.63046	0.986;0.986;0.986;0.992	P;P;P;P	0.62885	0.857;0.908;0.908;0.908	T	0.00726	-1.1592	10	0.87932	D	0	-17.6368	13.5352	0.61643	0.0753:0.0:0.9247:0.0	.	54;142;142;162	B4DDD5;Q53H91;P55058;B3KUE5	.;.;PLTP_HUMAN;.	Y	54;142;142;162	ENSP00000361497:S54Y;ENSP00000361508:S142Y;ENSP00000417138:S142Y;ENSP00000440296:S162Y	ENSP00000361497:S54Y	S	-	2	0	PLTP	43971622	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	4.137000	0.58010	1.329000	0.45376	0.462000	0.41574	TCC	PLTP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000100979		0.617	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLTP	HGNC	protein_coding	OTTHUMT00000354633.1		0	17	0	G	NM_006227		44538215	-1			no_errors	ENST00000542937	ensembl	human	known	74_37	missense	15.79	16	3	SNP	1.000	T	T	44538215	G	T	44538215	3	4	98	1	0	0	0	0	1	0	0	0	12153	1174	41	3	1104	3	PLTP	20	44538215	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		44538215	18487305	100	28108											
TPTE	7179	genome.wustl.edu	37	chr21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttacagtgaatcgctaCgatgttttcaagatcttgag	10	15	8	8	2	2	3	1	2	1	1	4	4	3	3	1	0	2	2	1	0	4	6	rs149228869		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr21:10933879C>T	ENST00000361285.4	-	17	1329	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.V296I|TPTE_ENST00000298232.7_Missense_Mutation_p.V316I	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	334	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAATCGCTACGATGTTTTCA	0.313																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL	4,4402		0,4,2199	244	243	243		946,886,1000	0.1	0	21	dbSNP_134	243	0,8600		0,0,4300	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	benign,benign,benign	316/534,296/514,334/552	10933879	4,13002	2203	4300	6503	SO:0001583	missense	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	12023	protein-coding gene	gene with protein product	"PTEN-related tyrosine phosphatase", "cancer/testis antigen 44"	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1000G>A	21.37:g.10933879C>T	ENSP00000355208:p.Val334Ile		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.V334I	ENST00000361285.4	37	c.1000	CCDS13560.2	21	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.795271	0.00617	9.08E-4	0.0	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.88975	-2.45;-2.45;-2.45	1.97	0.0501	0.14292	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.112978	0.56097	N	0.000029	T	0.69260	0.3091	N	0.05124	-0.11	0.26216	N	0.979237	B;B;B	0.18013	0.02;0.02;0.025	B;B;B	0.20955	0.019;0.009;0.032	T	0.56450	-0.7977	10	0.10902	T	0.67	-10.4341	4.9844	0.14182	0.0:0.5035:0.0:0.4965	.	296;316;334	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	I	316;334;296	ENSP00000298232:V316I;ENSP00000355208:V334I;ENSP00000344441:V296I	ENSP00000298232:V316I	V	-	1	0	TPTE	9955750	0.093000	0.21703	0.006000	0.13384	0.155000	0.21991	0.193000	0.17116	0.000000	0.14550	-1.111000	0.02071	GTA	TPTE	-	pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000166157		0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPTE	HGNC	protein_coding	OTTHUMT00000157413.1	-	0	204	0	C			10933879	-1	tier1	rs149228869	no_errors	ENST00000361285	ensembl	human	known	74_37	missense	21.08	146	39	SNP	0.995	T	T	10933879	C	T	10933879	3	4	98	1	0	0	0	0	1	0	0	0	16478	536	19	1	687	1	TPTE	21	10933879	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		10933879	37196016	101	28109											
LZTR1	8216	genome.wustl.edu	37	chr22	21348483	21348483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctgcacgtggccatcCgggaggccgaggcccggccc	4	4	15	18	4	0	0	0	0	0	0	1	2	1	1	6	5	2	2	6	5	0	0			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr22:21348483C>T	ENST00000215739.8	+	14	1899	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R495W	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	514	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGTGGCCATCCGGGAGGCCGA	0.701																																																	0													9	11	11					22																	21348483		2186	4280	6466	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"BTB/POZ domain containing"	6742	protein-coding gene	gene with protein product		600574	"leucine-zipper-like transcriptional regulator 1"			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1540C>T	22.37:g.21348483C>T	ENSP00000215739:p.Arg514Trp		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R514W	ENST00000215739.8	37	c.1540	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560223	0.86335	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.68624	-0.34;-0.34	5.34	5.34	0.76211	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.105597	0.64402	D	0.000004	T	0.78848	0.4348	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.981;0.96;0.981;0.997	T	0.80221	-0.1472	10	0.66056	D	0.02	-6.6561	16.536	0.84373	0.0:1.0:0.0:0.0	.	495;473;514;473	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	W	473;514;495	ENSP00000215739:R514W;ENSP00000374006:R495W	ENSP00000215739:R514W	R	+	1	2	LZTR1	19678483	1.000000	0.71417	0.979000	0.43373	0.894000	0.52154	3.864000	0.56024	2.494000	0.84150	0.462000	0.41574	CGG	LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.701	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0	58	0	C	NM_006767		21348483	1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	T	T	21348483	C	T	21348483	3	4	98	1	0	0	0	0	1	0	0	0	9173	643	23	1	1594	1	LZTR1	22	21348483	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09		21348483	29956083	102	28110											
VPREB3	29802	genome.wustl.edu	37	chr22	24095297	24095297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagtccctgatggtgacGtgctgggggctgagcgtgca	5	9	17	10	3	0	3	0	3	0	0	1	3	1	3	2	3	3	4	2	3	1	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr22:24095297G>T	ENST00000248948.3	-	2	242	c.138C>A	c.(136-138)caC>caA	p.H46Q	VPREB3_ENST00000398465.3_Missense_Mutation_p.H30Q|ZNF70_ENST00000341976.3_5'Flank	NM_013378.2	NP_037510.1	Q9UKI3	VPRE3_HUMAN	pre-B lymphocyte 3	46	Ig-like.					endoplasmic reticulum (GO:0005783)				large_intestine(1)|lung(1)|skin(1)	3		Medulloblastoma(6;7.87e-06)|all_neural(6;0.00334)				TGATGGTGACGTGCTGGGGGC	0.627																																																	0													83	63	70					22																	24095297		2203	4300	6503	SO:0001583	missense	0				CCDS13813.1	22q11.23	2013-01-11	2008-09-12		ENSG00000128218	ENSG00000128218		"Immunoglobulin superfamily / V-set domain containing"	12710	protein-coding gene	gene with protein product		605017				10702669, 14670953	Standard	NM_013378		Approved	8HS20	uc002zxt.3	Q9UKI3	OTTHUMG00000150738	ENST00000248948.3:c.138C>A	22.37:g.24095297G>T	ENSP00000248948:p.His46Gln		B2R587	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.H46Q	ENST00000248948.3	37	c.138	CCDS13813.1	22	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360882	0.24684	.	.	ENSG00000128218	ENST00000398465;ENST00000248948	T;T	0.64991	-0.13;-0.13	4.94	-9.88	0.00467	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.627207	0.14234	N	0.332496	T	0.44371	0.1290	L	0.55743	1.74	0.09310	N	1	B	0.23937	0.094	B	0.19391	0.025	T	0.18999	-1.0319	10	0.59425	D	0.04	.	5.2454	0.15494	0.386:0.421:0.1088:0.0843	.	46	Q9UKI3	VPRE3_HUMAN	Q	30;46	ENSP00000381483:H30Q;ENSP00000248948:H46Q	ENSP00000248948:H46Q	H	-	3	2	VPREB3	22425297	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.633000	0.00869	-2.775000	0.00363	0.460000	0.39030	CAC	VPREB3	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000128218		0.627	VPREB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPREB3	HGNC	protein_coding	OTTHUMT00000319879.2		0	23	0	G	NM_013378		24095297	-1			no_errors	ENST00000248948	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.000	T	T	24095297	G	T	24095297	3	4	98	1	0	0	0	0	1	0	0	0	17236	1136	40	2	237	2	VPREB3	22	24095297	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	2746814	24095297	27209269	103	28111											
MORC2	22880	genome.wustl.edu	37	chr22	31324086	31324086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctcgcggagcttcctctCggaggtgcgcaggctttcct	3	11	13	14	5	2	0	0	0	2	0	6	2	4	2	2	4	2	3	2	4	0	2			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr22:31324086C>T	ENST00000397641.3	-	25	3358	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	MORC2_ENST00000215862.4_Missense_Mutation_p.E922K|MORC2-AS1_ENST00000432624.2_RNA|MORC2-AS1_ENST00000422995.2_RNA|MORC2-AS1_ENST00000441558.1_RNA|MORC2-AS1_ENST00000609557.1_RNA			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	984						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AGCTTCCTCTCGGAGGTGCGC	0.597																																																	0													63	56	59					22																	31324086		2203	4300	6503	SO:0001583	missense	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"zinc finger, CW-type with coiled-coil domain 1", "zinc finger, CW type with coiled-coil domain 1"	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2950G>A	22.37:g.31324086C>T	ENSP00000380763:p.Glu984Lys		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.E984K	ENST00000397641.3	37	c.2950		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.621256|4.621256	0.87460|0.87460	.|.	.|.	ENSG00000133422|ENSG00000133422	ENST00000397641;ENST00000429468;ENST00000215862|ENST00000445980	T;T|.	0.15139|.	2.46;2.45|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.048924|.	0.85682|.	D|.	0.000000|.	T|T	0.56108|0.56108	0.1963|0.1963	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.56398|.	0.797|.	T|T	0.50491|0.50491	-0.8822|-0.8822	10|5	0.42905|.	T|.	0.14|.	.|.	19.2808|19.2808	0.94052|0.94052	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	984|.	Q9Y6X9|.	MORC2_HUMAN|.	K|Q	984;44;922|145	ENSP00000380763:E984K;ENSP00000215862:E922K|.	ENSP00000215862:E922K|.	E|R	-|-	1|2	0|0	MORC2|MORC2	29654086|29654086	1.000000|1.000000	0.71417|0.71417	0.905000|0.905000	0.35620|0.35620	0.581000|0.581000	0.36288|0.36288	7.487000|7.487000	0.81328|0.81328	2.557000|2.557000	0.86248|0.86248	0.561000|0.561000	0.74099|0.74099	GAG|CGA	MORC2	-	NULL	ENSG00000133422		0.597	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	HGNC	protein_coding	OTTHUMT00000321710.2	-	0	77	0	C	NM_014941		31324086	-1	tier1	-	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	23.94	54	17	SNP	1.000	T	T	31324086	C	T	31324086	3	4	98	1	0	0	0	0	1	0	0	0	9740	893	31	1	156	1	MORC2	22	31324086	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	7228789	31324086	19980480	104	28112											
DEPDC5	9681	genome.wustl.edu	37	chr22	32239099	32239099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccttgtgtcccgaaaccGccctgaggaggaggaccagt	9	6	14	12	2	0	1	0	1	0	0	1	5	1	4	5	4	1	0	5	4	1	1			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr22:32239099G>T	ENST00000382112.3	+	27	2577	c.2507G>T	c.(2506-2508)cGc>cTc	p.R836L	DEPDC5_ENST00000400248.2_Missense_Mutation_p.R836L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R845L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R836L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R767L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R767L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R845L|DEPDC5_ENST00000400246.1_Missense_Mutation_p.R845L	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	845					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCCGAAACCGCCCTGAGGAG	0.443																																																	0													90	84	86					22																	32239099		1965	4157	6122	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2507G>T	22.37:g.32239099G>T	ENSP00000371546:p.Arg836Leu		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.R845L	ENST00000382112.3	37	c.2534	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130150	0.77549	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02;2.02;2.02	5.68	4.67	0.58626	.	0.060343	0.64402	D	0.000002	T	0.37571	0.1008	L	0.53249	1.67	0.80722	D	1	D;D;P;P;P;P	0.67145	0.996;0.966;0.941;0.946;0.708;0.91	D;P;P;P;B;B	0.68039	0.955;0.522;0.522;0.538;0.137;0.337	T	0.06789	-1.0807	10	0.23891	T	0.37	.	13.693	0.62559	0.0737:0.0:0.9263:0.0	.	166;845;767;845;836;836	B4DSS1;B9EGN9;B4DH93;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	L	767;845;836;767;845;767;836;845;836	ENSP00000440210:R767L;ENSP00000266091:R845L;ENSP00000383108:R836L;ENSP00000383105:R845L;ENSP00000371539:R767L;ENSP00000371546:R836L;ENSP00000371545:R845L;ENSP00000383107:R836L	ENSP00000266091:R845L	R	+	2	0	DEPDC5	30569099	0.989000	0.36119	1.000000	0.80357	0.957000	0.61999	2.512000	0.45485	1.422000	0.47177	0.655000	0.94253	CGC	DEPDC5	-	NULL	ENSG00000100150		0.443	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1		0	53	0	G	NM_014662		32239099	1			no_errors	ENST00000266091	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T	T	32239099	G	T	32239099	3	4	98	1	0	0	0	0	1	0	0	0	4456	1087	38	2	2631	2	DEPDC5	22	32239099	Missense_Mutation	SNP	G	TCGA-LN-A49K-01A-11D-A247-09	915013	32239099	19065467	105	28113											
TBC1D22A	25771	genome.wustl.edu	37	chr22	47308003	47308003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttcatatgggcgatcCgccacccagccagtggatac	8	10	10	13	2	2	0	1	0	1	0	3	2	3	1	4	2	2	1	4	2	2	4			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chr22:47308003C>T	ENST00000337137.4	+	8	1100	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R234C|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R265C|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R265C|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R253C	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	312	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		ATGGGCGATCCGCCACCCAGC	0.383																																																	0													197	173	181					22																	47308003		2203	4300	6503	SO:0001583	missense	0			AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 4"	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.934C>T	22.37:g.47308003C>T	ENSP00000336724:p.Arg312Cys		B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R312C	ENST00000337137.4	37	c.934	CCDS14078.1	22	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269133	0.80469	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58	5.56	5.56	0.83823	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	H	0.97077	3.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;1.0;1.0;0.983	T	0.56147	-0.8027	10	0.87932	D	0	.	18.1129	0.89541	0.0:1.0:0.0:0.0	.	312;234;253;312	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	C	312;265;253;234;265	ENSP00000336724:R312C;ENSP00000370383:R265C;ENSP00000384036:R253C;ENSP00000347932:R234C;ENSP00000385634:R265C	ENSP00000336724:R312C	R	+	1	0	TBC1D22A	45686667	1.000000	0.71417	0.971000	0.41717	0.479000	0.33129	5.253000	0.65452	2.599000	0.87857	0.655000	0.94253	CGC	TBC1D22A	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000054611		0.383	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D22A	HGNC	protein_coding	OTTHUMT00000317600.3		0	29	0	C	NM_014346		47308003	1			no_errors	ENST00000337137	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T	T	47308003	C	T	47308003	3	4	98	1	0	0	0	0	1	0	0	0	15658	652	23	1	964	1	TBC1D22A	22	47308003	Missense_Mutation	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	15068904	47308003	3996563	106	28114											
HMGN5	79366	genome.wustl.edu	37	chrX	80371790	80371790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggtttcagcaactgcttgGgcacttgtatctatgttttc	6	18	9	8	0	2	0	1	0	1	0	3	0	2	0	0	2	3	6	0	2	3	8			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chrX:80371790G>T	ENST00000358130.2	-	6	508	c.180C>A	c.(178-180)gcC>gcA	p.A60A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	60					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A60A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CAACTGCTTGGGCACTTGTAT	0.328																																																	2	Substitution - coding silent(2)	endometrium(2)											148	113	125					X																	80371790		2203	4297	6500	SO:0001819	synonymous_variant	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"High-mobility group / Canonical"	8013	protein-coding gene	gene with protein product		300385	"nucleosomal binding protein 1", "high-mobility group nucleosome binding domain 5"	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.180C>A	X.37:g.80371790G>T			Q5JSL1	Silent	SNP	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A60	ENST00000358130.2	37	c.180	CCDS14448.1	X																																																																																			HMGN5	-	pfam_HMGN_fam,smart_HMGN_fam	ENSG00000198157		0.328	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	-	0	22	0	G	NM_030763		80371790	-1	tier1	-	no_errors	ENST00000358130	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.020	T	T	80371790	G	T	80371790	2	4	98	1	0	0	0	0	0	0	0	1	7265	1219	43	3		3	HMGN5	23	80371790	Silent	SNP	G	TCGA-LN-A49K-01A-11D-A247-09		80371790	74898770	107	28115											
SYTL4	94121	genome.wustl.edu	37	chrX	99956215	99956215	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctctagacaggtccagtaCctgcaggtttgtggcgcagg	8	10	13	10	1	1	1	0	0	1	1	3	1	2	1	2	4	2	4	2	4	2	3			TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chrX:99956215C>T	ENST00000372989.1	-	6	768		c.e6+1		SYTL4_ENST00000372981.1_Splice_Site|SYTL4_ENST00000276141.6_Splice_Site|SYTL4_ENST00000454200.2_Splice_Site|SYTL4_ENST00000455616.1_Splice_Site|SYTL4_ENST00000263033.5_Splice_Site	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	AGGTCCAGTACCTGCAGGTTT	0.473																																																	0													102	88	93					X																	99956215		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.436+1G>A	X.37:g.99956215C>T			Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Splice_Site	SNP	-	e3+1	ENST00000372989.1	37	c.436+1	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	c	22.1	4.240372	0.79912	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9948	0.89179	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYTL4	99842871	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.832000	0.62759	2.372000	0.80975	0.597000	0.82753	.	SYTL4	-	-	ENSG00000102362		0.473	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1		0	17	0	C	NM_080737	Intron	99956215	-1			no_errors	ENST00000454200	ensembl	human	known	74_37	splice_site	12.12	29	4	SNP	1.000	T	T	99956215	C	T	99956215	5	4	98	1	0	0	0	0	0	0	1	0	15532	521	18	3	1634	3	SYTL4	23	99956215	Splice_Site	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	19584425	99956215	55314345	108	28116											
F9	2158	genome.wustl.edu	37	chrX	138643810	138643810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcccttctggaactggaCgaacccttagtgctaaacag	11	10	9	11	1	1	0	0	0	1	0	1	3	1	2	2	2	5	1	2	2	5	4	rs373107855		TCGA-LN-A49K-01A-11D-A247-09	TCGA-LN-A49K-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7fef6fc4-1732-4cb8-958c-1bc52248920b	14e2990d-4d88-4fde-ba19-cfec88030c98	g.chrX:138643810C>T	ENST00000218099.2	+	8	973	c.966C>T	c.(964-966)gaC>gaT	p.D322D	F9_ENST00000394090.2_Silent_p.D284D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	322	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGGAACTGGACGAACCCTTAG	0.408																																																	0								C		0,3835		0,0,0,1632,571	214	181	192		966	-6.8	0	X		192	1,6727		0,0,1,2428,1871	no	coding-synonymous	F9	NM_000133.3		0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095		322/462	138643810	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"Factor IX", "plasma thromboplastic component", "Christmas disease", "hemophilia B"	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.966C>T	X.37:g.138643810C>T			A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain	p.D322	ENST00000218099.2	37	c.966	CCDS14666.1	X																																																																																			F9	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000101981		0.408	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	HGNC	protein_coding	OTTHUMT00000058557.1	-	0	32	0	C			138643810	1	tier1	-	no_errors	ENST00000218099	ensembl	human	known	74_37	silent	82.76	10	48	SNP	0.000	T	T	138643810	C	T	138643810	2	4	98	1	0	0	0	0	0	0	0	1	5370	535	19	1		1	F9	23	138643810	Silent	SNP	C	TCGA-LN-A49K-01A-11D-A247-09	38687595	138643810	16626750	109	28117											
TAS1R3	83756	genome.wustl.edu	37	chr1	1268382	1268382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcagcggaaacgtggacatgGagtacgacctgaagctgtgg	11	6	16	8	3	0	1	0	1	0	0	0	5	0	4	1	4	4	3	1	4	3	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:1268382G>C	ENST00000339381.5	+	4	1389	c.1357G>C	c.(1357-1359)Gag>Cag	p.E453Q		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	453					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		CGTGGACATGGAGTACGACCT	0.657																																																	0													57	55	55					1																	1268382		2200	4295	6495	SO:0001583	missense	0			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1357G>C	1.37:g.1268382G>C	ENSP00000344411:p.Glu453Gln		Q5TA49|Q8NGW9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.E453Q	ENST00000339381.5	37	c.1357	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328252	0.24080	.	.	ENSG00000169962	ENST00000339381	D	0.82526	-1.62	4.86	0.355	0.16069	Extracellular ligand-binding receptor (1);	2.333990	0.02281	N	0.069417	T	0.78830	0.4345	L	0.36672	1.1	0.09310	N	1	P	0.48407	0.91	P	0.51079	0.658	T	0.65356	-0.6188	10	0.09338	T	0.73	.	3.448	0.07487	0.1482:0.2413:0.487:0.1235	.	453	Q7RTX0	TS1R3_HUMAN	Q	453	ENSP00000344411:E453Q	ENSP00000344411:E453Q	E	+	1	0	TAS1R3	1258245	0.000000	0.05858	0.005000	0.12908	0.632000	0.37999	0.339000	0.19875	0.428000	0.26173	0.456000	0.33151	GAG	TAS1R3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000169962		0.657	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	-	0	45	0	G			1268382	1	tier1	-	no_errors	ENST00000339381	ensembl	human	known	74_37	missense	24.39	31	10	SNP	0.000	C	C	1268382	G	C	1268382	3	2	99	1	0	0	0	0	1	0	0	0	15611	1175	41	5	1371	5	TAS1R3	1	1268382	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		1268382	247982239	1	28118											
KIAA0090	23065	genome.wustl.edu	37	chr1	19559220	19559220	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttgacattgggtagAtactgtttccacaggatggt	8	14	12	7	0	1	2	0	1	1	1	2	3	2	3	1	4	1	3	1	4	2	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:19559220A>T	ENST00000477853.1	-	15	1722	c.1680T>A	c.(1678-1680)taT>taA	p.Y560*	RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Nonsense_Mutation_p.Y538*|EMC1_ENST00000375199.3_Nonsense_Mutation_p.Y559*	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	560						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CATTGGGTAGATACTGTTTCC	0.473																																																	0													179	176	177					1																	19559220		2203	4300	6503	SO:0001587	stop_gained	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"KIAA0090"	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1680T>A	1.37:g.19559220A>T	ENSP00000420608:p.Tyr560*		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Nonsense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam	p.Y560*	ENST00000477853.1	37	c.1680	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	36|36	5.971868|5.971868	0.97162|0.97162	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208	.|.	.|.	.|.	5.94|5.94	4.82|4.82	0.62117|0.62117	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48554|.	0.1506|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49457|.	-0.8938|.	4|.	.|.	.|.	.|.	-13.0003|-13.0003	4.0296|4.0296	0.09703|0.09703	0.7407:0.0:0.2593:0.0|0.7407:0.0:0.2593:0.0	.|.	.|.	.|.	.|.	T|X	294|560;559;538	.|.	.|.	S|Y	-|-	1|3	0|2	KIAA0090|KIAA0090	19431807|19431807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.923000|0.923000	0.55619|0.55619	1.450000|1.450000	0.35134|0.35134	2.272000|2.272000	0.75746|0.75746	0.460000|0.460000	0.39030|0.39030	TCT|TAT	EMC1	-	NULL	ENSG00000127463		0.473	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	-	0	54	0	A	NM_015047		19559220	-1	tier1	-	no_errors	ENST00000477853	ensembl	human	known	74_37	nonsense	23.53	52	16	SNP	1.000	T	T	19559220	A	T	19559220	4	4	99	1	0	0	0	0	0	1	0	0	8180	340	12	5	1337	5	KIAA0090	1	19559220	Nonsense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	18290838	19559220	229691401	2	28119											
EPHA8	2046	genome.wustl.edu	37	chr1	22903214	22903214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaggcagtgacgggggccGactcgtcctcactggtggag	6	6	18	11	4	1	1	1	1	0	0	3	4	2	3	2	6	0	1	2	6	0	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:22903214G>A	ENST00000166244.3	+	3	736	c.664G>A	c.(664-666)Gac>Aac	p.D222N	EPHA8_ENST00000538803.1_Missense_Mutation_p.D222N|EPHA8_ENST00000374644.4_Missense_Mutation_p.D222N	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	222	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GACGGGGGCCGACTCGTCCTC	0.642																																																	0													49	46	47					1																	22903214		2203	4300	6503	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.664G>A	1.37:g.22903214G>A	ENSP00000166244:p.Asp222Asn		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.D222N	ENST00000166244.3	37	c.664	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212253	0.79240	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.73681	-0.77;5.07;5.07	4.0	4.0	0.46444	.	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.76170	2.325	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.87476	0.2417	10	0.87932	D	0	.	14.8153	0.70031	0.0:0.0:1.0:0.0	.	222;222	P29322;P29322-2	EPHA8_HUMAN;.	N	222	ENSP00000166244:D222N;ENSP00000363775:D222N;ENSP00000440274:D222N	ENSP00000166244:D222N	D	+	1	0	EPHA8	22775801	1.000000	0.71417	0.964000	0.40570	0.673000	0.39480	9.657000	0.98554	2.045000	0.60652	0.442000	0.29010	GAC	EPHA8	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000070886		0.642	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	HGNC	protein_coding	OTTHUMT00000008085.1	-	0	50	0	G	NM_020526		22903214	1	tier1	-	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	34.29	46	24	SNP	1.000	A	A	22903214	G	A	22903214	3	1	99	1	0	0	0	0	1	0	0	0	5189	1058	37	1	674	1	EPHA8	1	22903214	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	3343994	22903214	226347407	3	28120											
GALE	2582	genome.wustl.edu	37	chr1	24125155	24125155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccaaaatgtccatctcctCaaactccacagagcggcctg	11	8	7	15	1	2	1	1	0	1	1	6	1	5	1	5	1	2	0	5	1	3	0	rs370693766		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:24125155C>G	ENST00000374497.3	-	4	278	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	GALE_ENST00000470383.1_5'UTR	NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1			UDP-galactose-4-epimerase											endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCCATCTCCTCAAACTCCACA	0.597																																					Colon(17;142 583 2667 10036 24961)												0								C	GLN/GLU,GLN/GLU,GLN/GLU	0,4406		0,0,2203	65	61	62		187,187,187	3.6	1	1		62	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	GALE	NM_000403.3,NM_001008216.1,NM_001127621.1	29,29,29	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	benign,benign,benign	63/349,63/349,63/349	24125155	2,13004	2203	4300	6503	SO:0001583	missense	0			BC050685	CCDS242.1	1p36-p35	2012-10-02	2004-11-17		ENSG00000117308	ENSG00000117308	5.1.3.2	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	4116	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 1E, member 1", "UDP-glucose 4-epimerase"	606953	"galactose-4-epimerase, UDP-"			8593531, 19027726	Standard	NM_001127621		Approved	SDR1E1	uc009vqo.1	Q14376	OTTHUMG00000002958	ENST00000374497.3:c.187G>C	1.37:g.24125155C>G	ENSP00000363621:p.Glu63Gln			Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,prints_Nuc_sugar_epim,tigrfam_GalE	p.E63Q	ENST00000374497.3	37	c.187	CCDS242.1	1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659267	0.47467	0.0	2.33E-4	ENSG00000117308	ENST00000374497;ENST00000425913;ENST00000445705	D;D;D	0.88277	-2.36;-2.36;-2.36	4.47	3.56	0.40772	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.229741	0.45126	D	0.000400	T	0.80232	0.4585	N	0.21545	0.675	0.42313	D	0.992222	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.08055	0.002;0.003;0.003	T	0.76366	-0.2985	10	0.72032	D	0.01	-21.7676	8.8479	0.35181	0.0:0.719:0.1932:0.0879	.	63;63;63	Q5QPP1;Q38G75;Q14376	.;.;GALE_HUMAN	Q	63	ENSP00000363621:E63Q;ENSP00000393359:E63Q;ENSP00000398257:E63Q	ENSP00000363621:E63Q	E	-	1	0	GALE	23997742	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.740000	0.55082	1.256000	0.44068	-0.253000	0.11424	GAG	GALE	-	pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_GalE	ENSG00000117308		0.597	GALE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALE	HGNC	protein_coding	OTTHUMT00000008232.1		0	14	0	C	NM_000403		24125155	-1			no_errors	ENST00000374497	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	G	G	24125155	C	G	24125155	3	3	99	1	0	0	0	0	1	0	0	0	6227	835	29	5	895	5	GALE	1	24125155	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1221941	24125155	225125466	4	28121											
ZMYM1	79830	genome.wustl.edu	37	chr1	35580160	35580160	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaatgacgtatactttaAaacaatctgggatggaacag	18	9	9	5	1	1	2	0	1	1	1	1	4	1	4	0	2	3	1	0	2	8	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:35580160A>C	ENST00000373330.1	+	11	2903	c.2729A>C	c.(2728-2730)aAa>aCa	p.K910T	ZMYM1_ENST00000359858.4_Missense_Mutation_p.K910T|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	910						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATACTTTAAAACAATCTGG	0.279																																																	0													18	17	17					1																	35580160		1785	4057	5842	SO:0001583	missense	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.2729A>C	1.37:g.35580160A>C	ENSP00000362427:p.Lys910Thr		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.K910T	ENST00000373330.1	37	c.2729	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	A	8.773	0.926276	0.18056	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.23950	1.88;1.88;1.88	4.74	4.74	0.60224	Ribonuclease H-like (1);	0.150568	0.32106	N	0.006573	T	0.39809	0.1092	L	0.51422	1.61	0.22684	N	0.998855	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.987	T	0.16453	-1.0402	9	.	.	.	-18.1957	7.5588	0.27839	0.9017:0.0:0.0983:0.0	.	891;910	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	T	910;835;910	ENSP00000352920:K910T;ENSP00000362426:K835T;ENSP00000362427:K910T	.	K	+	2	0	ZMYM1	35352747	0.987000	0.35691	0.110000	0.21437	0.004000	0.04260	1.801000	0.38843	2.086000	0.62901	0.374000	0.22700	AAA	ZMYM1	-	superfamily_RNaseH-like_dom	ENSG00000197056		0.279	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	-	0	28	0	A	NM_024772		35580160	1	tier1	-	no_errors	ENST00000359858	ensembl	human	novel	74_37	missense	21.15	41	11	SNP	0.573	C	C	35580160	A	C	35580160	3	2	99	1	0	0	0	0	1	0	0	0	17747	14	1	4	2763	4	ZMYM1	1	35580160	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	11455005	35580160	213670461	5	28122											
PIGK	10026	genome.wustl.edu	37	chr1	77620211	77620211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttccgtacacttccaaaGaaatcagttatcagtacatt	14	13	4	10	1	2	1	2	0	0	1	4	1	4	1	2	0	2	3	2	0	5	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:77620211G>T	ENST00000370812.3	-	9	932	c.909C>A	c.(907-909)ttC>ttA	p.F303L	PIGK_ENST00000359130.1_Missense_Mutation_p.F303L|PIGK_ENST00000445065.1_Missense_Mutation_p.F209L|PIGK_ENST00000370813.5_Missense_Mutation_p.F227L|PIGK_ENST00000478391.1_5'UTR	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	303					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						CACTTCCAAAGAAATCAGTTA	0.368																																																	0													124	117	120					1																	77620211		2203	4300	6503	SO:0001583	missense	0			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"Phosphatidylinositol glycan anchor biosynthesis"	8965	protein-coding gene	gene with protein product	"GPI transamidase subunit"	605087	"phosphatidylinositol glycan, class K"			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.909C>A	1.37:g.77620211G>T	ENSP00000359848:p.Phe303Leu		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.F303L	ENST00000370812.3	37	c.909	CCDS674.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116089	0.77323	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813;ENST00000359130	T;T;T;T	0.64991	-0.1;-0.07;-0.13;-0.09	5.2	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	H	0.95004	3.61	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.998;0.999;0.988	D;D;D;D	0.81914	0.995;0.988;0.991;0.939	T	0.78583	-0.2148	10	0.72032	D	0.01	-9.1611	8.602	0.33751	0.2953:0.0:0.7047:0.0	.	227;209;303;303	B4E2M3;B1AK81;A6NEM5;Q92643	.;.;.;GPI8_HUMAN	L	303;209;227;303	ENSP00000359848:F303L;ENSP00000388854:F209L;ENSP00000359849:F227L;ENSP00000352041:F303L	ENSP00000352041:F303L	F	-	3	2	PIGK	77392799	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.664000	0.46783	0.296000	0.22592	0.655000	0.94253	TTC	PIGK	-	NULL	ENSG00000142892		0.368	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	-	0	49	0	G	NM_005482		77620211	-1	tier1	-	no_errors	ENST00000370812	ensembl	human	known	74_37	missense	22.50	62	18	SNP	1.000	T	T	77620211	G	T	77620211	3	4	99	1	0	0	0	0	1	0	0	0	11929	933	33	3	290	3	PIGK	1	77620211	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	42040051	77620211	171630410	6	28123											
AK5	26289	genome.wustl.edu	37	chr1	77949036	77949036	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtatttggagaggacaCtatgggaggtgagttttcct	11	13	13	4	0	0	2	0	1	0	1	1	5	1	4	1	4	0	2	1	4	3	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:77949036C>G	ENST00000354567.2	+	9	1357	c.1094C>G	c.(1093-1095)aCt>aGt	p.T365S	AK5_ENST00000344720.5_Missense_Mutation_p.T339S	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	365					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGAGAGGACACTATGGGAGGT	0.328																																																	0													154	150	152					1																	77949036		2203	4300	6503	SO:0001583	missense	0			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"Adenylate kinases"	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1094C>G	1.37:g.77949036C>G	ENSP00000346577:p.Thr365Ser		Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.T365S	ENST00000354567.2	37	c.1094	CCDS675.1	1	.	.	.	.	.	.	.	.	.	.	C	0.271	-0.992677	0.02162	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.71579	-0.58;-0.57	4.25	3.34	0.38264	.	0.865320	0.10197	N	0.703907	T	0.24774	0.0601	N	0.08118	0	0.19300	N	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.20438	-1.0275	10	0.13108	T	0.6	-15.9637	8.2833	0.31913	0.0:0.8929:0.0:0.1071	.	365	Q9Y6K8	KAD5_HUMAN	S	365;339	ENSP00000346577:T365S;ENSP00000341430:T339S	ENSP00000341430:T339S	T	+	2	0	AK5	77721624	0.079000	0.21365	0.035000	0.18076	0.101000	0.19017	0.988000	0.29616	1.390000	0.46547	0.655000	0.94253	ACT	AK5	-	NULL	ENSG00000154027		0.328	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK5	HGNC	protein_coding	OTTHUMT00000026993.4	-	0	58	0	C	NM_174858		77949036	1	tier1	-	no_errors	ENST00000354567	ensembl	human	known	74_37	missense	29.00	71	29	SNP	0.040	G	G	77949036	C	G	77949036	3	3	99	1	0	0	0	0	1	0	0	0	443	565	20	5	1128	5	AK5	1	77949036	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	328825	77949036	171301585	7	28124											
POU2F1	5451	genome.wustl.edu	37	chr1	167343527	167343527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtctcagcccatacagatCgcacaggtgagtgaggaact	11	8	11	11	1	1	3	1	2	1	1	3	4	1	4	1	2	3	1	1	2	2	1	rs562014026		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:167343527C>T	ENST00000541643.3	+	7	678	c.516C>T	c.(514-516)atC>atT	p.I172I	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Silent_p.I172I|POU2F1_ENST00000367862.5_Silent_p.I184I|POU2F1_ENST00000452019.1_Silent_p.I172I|POU2F1_ENST00000367866.2_Silent_p.I195I|POU2F1_ENST00000429375.2_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	172					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CCATACAGATCGCACAGGTGA	0.527																																																	0													25	26	26					1																	167343527		2201	4300	6501	SO:0001819	synonymous_variant	0			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"Homeoboxes / POU class"	9212	protein-coding gene	gene with protein product		164175	"POU domain class 2, transcription factor 1"	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.516C>T	1.37:g.167343527C>T			B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.I195	ENST00000541643.3	37	c.585		1																																																																																			POU2F1	-	NULL	ENSG00000143190		0.527	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding		-	0	32	0	C	NM_002697		167343527	1	tier1	-	no_errors	ENST00000367866	ensembl	human	known	74_37	silent	12.82	68	10	SNP	0.879	T	T	167343527	C	T	167343527	2	4	99	1	0	0	0	0	0	0	0	1	12310	874	31	1		1	POU2F1	1	167343527	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	89394491	167343527	81907094	8	28125											
CD34	947	genome.wustl.edu	37	chr1	208070876	208070876	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctccaggcagatgccctGagtcaatttcacttctctga	8	13	8	12	0	3	3	2	2	1	1	5	3	4	3	2	1	2	2	2	1	1	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:208070876G>C	ENST00000310833.7	-	4	880	c.559C>G	c.(559-561)Cag>Gag	p.Q187E	CD34_ENST00000537704.1_Missense_Mutation_p.Q52E|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Missense_Mutation_p.Q187E	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	187				Q -> E (in Ref. 9; AA sequence). {ECO:0000305}.	cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CAGATGCCCTGAGTCAATTTC	0.453																																																	0													67	57	60					1																	208070876		2199	4285	6484	SO:0001583	missense	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"CD molecules"	1662	protein-coding gene	gene with protein product		142230	"CD34 antigen"			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.559C>G	1.37:g.208070876G>C	ENSP00000310036:p.Gln187Glu		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.Q187E	ENST00000310833.7	37	c.559	CCDS31011.1	1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378950	0.24944	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000537704;ENST00000367037	T;T;T	0.11277	2.79;2.79;2.79	5.28	3.15	0.36227	.	1.037320	0.07589	N	0.921541	T	0.13415	0.0325	L	0.61218	1.895	0.09310	N	1	P;P;B	0.39782	0.688;0.573;0.131	B;B;B	0.33454	0.078;0.164;0.058	T	0.24012	-1.0172	10	0.49607	T	0.09	0.5451	11.3159	0.49392	0.0:0.0:0.658:0.342	.	52;187;187	B4DG27;P28906-2;P28906	.;.;CD34_HUMAN	E	187;187;52;157	ENSP00000310036:Q187E;ENSP00000348916:Q187E;ENSP00000442874:Q52E	ENSP00000310036:Q187E	Q	-	1	0	CD34	206137499	0.001000	0.12720	0.011000	0.14972	0.832000	0.47134	0.744000	0.26245	1.192000	0.43071	0.655000	0.94253	CAG	CD34	-	NULL	ENSG00000174059		0.453	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	-	0	16	0	G	NM_001773		208070876	-1	tier1	-	no_errors	ENST00000310833	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.002	C	C	208070876	G	C	208070876	3	2	99	1	0	0	0	0	1	0	0	0	3013	1299	45	5	637	5	CD34	1	208070876	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	40727349	208070876	41179745	9	28126											
ESRRG	2104	genome.wustl.edu	37	chr1	216741436	216741436	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtactctgtcaagacgCacccctgtgagcaaagacag	12	6	9	14	2	2	3	1	1	1	2	2	3	2	3	3	0	2	3	3	0	3	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:216741436C>G	ENST00000408911.3	-	4	747	c.594G>C	c.(592-594)gtG>gtC	p.V198V	ESRRG_ENST00000360012.3_Silent_p.V175V|ESRRG_ENST00000463665.1_Silent_p.V136V|ESRRG_ENST00000366938.2_Silent_p.V175V|ESRRG_ENST00000359162.2_Silent_p.V175V|ESRRG_ENST00000366940.2_Silent_p.V175V|ESRRG_ENST00000487276.1_Silent_p.V175V|ESRRG_ENST00000493603.1_Silent_p.V175V|ESRRG_ENST00000391890.3_Silent_p.V175V|ESRRG_ENST00000361525.3_Silent_p.V175V|ESRRG_ENST00000493748.1_Silent_p.V175V|ESRRG_ENST00000366937.1_Silent_p.V203V|ESRRG_ENST00000361395.2_Silent_p.V175V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	198					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGTCAAGACGCACCCCTGTGA	0.512																																																	0													113	100	104					1																	216741436		2203	4300	6503	SO:0001819	synonymous_variant	0			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"Nuclear hormone receptors"	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.594G>C	1.37:g.216741436C>G			A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.V198	ENST00000408911.3	37	c.594	CCDS41468.1	1																																																																																			ESRRG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	ENSG00000196482		0.512	ESRRG-001	KNOWN	basic|CCDS	protein_coding	ESRRG	HGNC	protein_coding	OTTHUMT00000089882.2	-	0	39	0	C	NM_206595		216741436	-1	tier1	-	no_errors	ENST00000408911	ensembl	human	known	74_37	silent	10.53	85	10	SNP	0.978	G	G	216741436	C	G	216741436	2	3	99	1	0	0	0	0	0	0	0	1	5278	697	25	5		5	ESRRG	1	216741436	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	8670560	216741436	32509185	10	28127											
RAB3GAP2	25782	genome.wustl.edu	37	chr1	220387305	220387305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttttttgtgttttgcaaGtatttccttcttcttcctgt	5	23	6	7	0	2	0	0	0	2	0	4	0	4	0	2	0	1	4	2	0	3	10			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:220387305G>C	ENST00000358951.2	-	3	313	c.197C>G	c.(196-198)aCt>aGt	p.T66S		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	66					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TGTTTTGCAAGTATTTCCTTC	0.393																																																	0													108	102	104					1																	220387305		2202	4300	6502	SO:0001583	missense	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.197C>G	1.37:g.220387305G>C	ENSP00000351832:p.Thr66Ser		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.T66S	ENST00000358951.2	37	c.197	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	G	6.860	0.527932	0.13127	.	.	ENSG00000118873	ENST00000358951	T	0.29397	1.57	5.7	2.82	0.32997	.	0.837021	0.11347	N	0.573406	T	0.10766	0.0263	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33929	-0.9849	10	0.08179	T	0.78	.	8.7065	0.34358	0.1377:0.1255:0.7368:0.0	.	66;66	Q9H2M9-2;Q9H2M9	.;RBGPR_HUMAN	S	66	ENSP00000351832:T66S	ENSP00000351832:T66S	T	-	2	0	RAB3GAP2	218453928	0.506000	0.26139	0.000000	0.03702	0.624000	0.37722	2.613000	0.46351	0.342000	0.23796	0.591000	0.81541	ACT	RAB3GAP2	-	NULL	ENSG00000118873		0.393	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	-	0	86	0	G	NM_012414		220387305	-1	tier1	-	no_errors	ENST00000358951	ensembl	human	known	74_37	missense	54.81	61	74	SNP	0.005	C	C	220387305	G	C	220387305	3	2	99	1	0	0	0	0	1	0	0	0	12981	1029	36	5	4116	5	RAB3GAP2	1	220387305	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	3645869	220387305	28863316	11	28128											
HEATR1	55127	genome.wustl.edu	37	chr1	236751319	236751319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggctaaaacagcttcttTtatgaaagattcatcaacac	14	12	6	9	1	3	2	2	1	1	1	4	2	3	2	0	1	3	2	0	1	5	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:236751319T>C	ENST00000366582.3	-	13	1669	c.1555A>G	c.(1555-1557)Aaa>Gaa	p.K519E	HEATR1_ENST00000366581.2_Missense_Mutation_p.K519E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	519					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACAGCTTCTTTTATGAAAGAT	0.348																																																	0													105	99	101					1																	236751319		2203	4300	6503	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1555A>G	1.37:g.236751319T>C	ENSP00000355541:p.Lys519Glu		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.K519E	ENST00000366582.3	37	c.1555	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007389	0.75046	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66638	-0.1;-0.22	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.252691	0.45361	D	0.000370	T	0.55369	0.1916	L	0.50333	1.59	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.53208	-0.8471	10	0.24483	T	0.36	.	5.2476	0.15506	0.0:0.1124:0.1727:0.7149	.	519	Q9H583	HEAT1_HUMAN	E	519	ENSP00000355541:K519E;ENSP00000355540:K519E	ENSP00000355540:K519E	K	-	1	0	HEATR1	234817942	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.795000	0.38784	2.225000	0.72522	0.529000	0.55759	AAA	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.348	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	-	0	44	0	T	XM_375853		236751319	-1	tier1	-	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	24.72	67	22	SNP	0.993	C	C	236751319	T	C	236751319	3	2	99	1	0	0	0	0	1	0	0	0	7054	1850	64	4	5011	4	HEATR1	1	236751319	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	16364014	236751319	12499302	12	28129											
MTR	4548	genome.wustl.edu	37	chr1	236969525	236969525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaagctgactatggccttGaacacttggtaagaattcca	12	10	8	11	0	0	3	0	2	0	1	1	3	1	3	3	2	2	2	3	2	5	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:236969525G>C	ENST00000366577.5	+	3	725	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q	MTR_ENST00000418145.2_Missense_Mutation_p.E167Q|MTR_ENST00000535889.1_Missense_Mutation_p.E111Q	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	111	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTATGGCCTTGAACACTTGGT	0.428																																																	0													133	123	127					1																	236969525		2203	4300	6503	SO:0001583	missense	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.331G>C	1.37:g.236969525G>C	ENSP00000355536:p.Glu111Gln		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.E111Q	ENST00000366577.5	37	c.331	CCDS1614.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919424	0.92249	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000418145;ENST00000535889	T;T;T	0.13778	2.56;2.56;2.56	6.03	6.03	0.97812	Homocysteine S-methyltransferase (4);	0.000000	0.85682	D	0.000000	T	0.22475	0.0542	L	0.35593	1.075	0.58432	D	0.999993	P;P;P	0.41848	0.763;0.763;0.763	P;P;P	0.50617	0.646;0.646;0.646	T	0.00277	-1.1854	10	0.30078	T	0.28	-27.849	20.5666	0.99351	0.0:0.0:1.0:0.0	.	111;111;111	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	Q	111;111;167;111	ENSP00000355536:E111Q;ENSP00000402255:E167Q;ENSP00000441845:E111Q	ENSP00000355536:E111Q	E	+	1	0	MTR	235036148	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.964000	0.87933	2.854000	0.98071	0.655000	0.94253	GAA	MTR	-	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH	ENSG00000116984		0.428	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0	18	0	G	NM_000254		236969525	1			no_errors	ENST00000366577	ensembl	human	known	74_37	missense	10.67	67	8	SNP	1.000	C	C	236969525	G	C	236969525	3	2	99	1	0	0	0	0	1	0	0	0	9996	1291	45	5	341	5	MTR	1	236969525	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	218206	236969525	12281096	13	28130											
RYR2	6262	genome.wustl.edu	37	chr1	237753263	237753263	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgagcaagaggcttcctCagtttcttcaagttccatca	9	12	9	11	0	4	2	3	1	1	1	6	2	6	2	2	2	1	5	2	2	2	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:237753263C>T	ENST00000366574.2	+	30	4086	c.3769C>T	c.(3769-3771)Cag>Tag	p.Q1257*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q1255*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q1241*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1257	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGGCTTCCTCAGTTTCTTCA	0.368																																																	0													93	87	89					1																	237753263		1868	4116	5984	SO:0001587	stop_gained	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10484	protein-coding gene	gene with protein product		180902	"arrhythmogenic right ventricular dysplasia 2"	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3769C>T	1.37:g.237753263C>T	ENSP00000355533:p.Gln1257*		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.Q1255*	ENST00000366574.2	37	c.3763	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	c	43	10.132471	0.99343	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.6894	0.95993	0.0:1.0:0.0:0.0	.	.	.	.	X	1257;1255;1241	.	ENSP00000353174:Q1255X	Q	+	1	0	RYR2	235819886	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.740000	0.62087	2.645000	0.89757	0.650000	0.86243	CAG	RYR2	-	NULL	ENSG00000198626		0.368	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0	39	0	C	NM_001035		237753263	1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	nonsense	10.87	82	10	SNP	1.000	T	T	237753263	C	T	237753263	4	4	99	1	0	0	0	0	0	1	0	0	13814	827	29	3	3887	3	RYR2	1	237753263	Nonsense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	783738	237753263	11497358	14	28131											
SCCPDH	51097	genome.wustl.edu	37	chr1	246887741	246887741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatggcgaccgagcagaGgcctttccacctggtggtgt	6	9	14	12	3	1	1	1	0	0	1	2	3	2	1	4	4	1	1	4	4	0	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:246887741G>A	ENST00000366510.3	+	1	393	c.17G>A	c.(16-18)aGg>aAg	p.R6K		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	6						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ACCGAGCAGAGGCCTTTCCAC	0.731																																																	0													21	22	22					1																	246887741		2200	4294	6494	SO:0001583	missense	0				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.17G>A	1.37:g.246887741G>A	ENSP00000355467:p.Arg6Lys		Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.R6K	ENST00000366510.3	37	c.17	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958822	0.74016	.	.	ENSG00000143653	ENST00000366510	T	0.57595	0.39	5.15	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.50905	0.1643	M	0.64630	1.985	0.41226	D	0.986548	P	0.35174	0.488	B	0.39094	0.29	T	0.51309	-0.8722	10	0.42905	T	0.14	.	9.7337	0.40376	0.1607:0.0:0.8393:0.0	.	6	Q8NBX0	SCPDL_HUMAN	K	6	ENSP00000355467:R6K	ENSP00000355467:R6K	R	+	2	0	SCCPDH	244954364	1.000000	0.71417	0.991000	0.47740	0.232000	0.25224	3.490000	0.53245	1.174000	0.42811	0.454000	0.30748	AGG	SCCPDH	-	NULL	ENSG00000143653		0.731	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2		0	16	0	G	NM_016002		246887741	1			no_errors	ENST00000366510	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.996	A	A	246887741	G	A	246887741	3	1	99	1	0	0	0	0	1	0	0	0	13930	1000	35	3	19	3	SCCPDH	1	246887741	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	9134478	246887741	2362880	15	28132											
OR2M7	391196	genome.wustl.edu	37	chr1	248487170	248487171	+	Frame_Shift_Ins	INS	-	-	G																															agtagtaaaagctttgcgacINSgtccctctccagatcccatg																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:248487170_248487171insG	ENST00000317965.2	-	1	728_729	c.700_701insC	c.(700-702)cgtfs	p.R234fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTTTGCGACGTCCCTCTCCA	0.45																																																	0																																										SO:0001589	frameshift_variant	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.701dupC	1.37:g.248487171_248487171dupG	ENSP00000324557:p.Arg234fs		B2RNL0|Q6IEX6	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R234fs	ENST00000317965.2	37	c.701_700	CCDS31111.1	1																																																																																			OR2M7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177186		0.45	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1		0	85	0	-	NM_001004691		248487171	-1	tier1		no_errors	ENST00000317965	ensembl	human	known	74_37	frame_shift_ins	23.88	153	48	INS	0.001:0.001	G	G	248487171	-	G	248487170	7	5	99	1	0	1	1	0	0	0	0	0	11053	536	19	0	240	0	OR2M7	1	248487170	Frame_Shift_Ins	INS	-	TCGA-LN-A49L-01A-11D-A247-09	1599429	248487170	763451	16	28133	105	2									
OR2M7	391196	genome.wustl.edu	37	chr1	248487173	248487174	+	Frame_Shift_Del	DEL	CC	CC	-																															tagtaaaagctttgcgacgtCcctctccagatcccatgtga																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:248487173_248487174delCC	ENST00000317965.2	-	1	725_726	c.697_698delGG	c.(697-699)ggafs	p.G233fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGCGACGTCCCTCTCCAGAT	0.446																																																	0																																										SO:0001589	frameshift_variant	0			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"GPCR / Class A : Olfactory receptors"	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.697_698delGG	1.37:g.248487173_248487174delCC	ENSP00000324557:p.Gly233fs		B2RNL0|Q6IEX6	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G233fs	ENST00000317965.2	37	c.698_697	CCDS31111.1	1																																																																																			OR2M7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000177186		0.446	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M7	HGNC	protein_coding	OTTHUMT00000097357.1		0	88	0	CC	NM_001004691		248487174	-1	tier1		no_errors	ENST00000317965	ensembl	human	known	74_37	frame_shift_del	22.75	163	48	DEL	0.335:0.354	-	-	248487174	CC	-	248487173	7	5	99	1	0	1	0	1	0	0	0	0	11053	855	30	0	243	0	OR2M7	1	248487173	Frame_Shift_Del	DEL	CC	TCGA-LN-A49L-01A-11D-A247-09	3	248487173	763448	17	28134	105	2									
OR2T3	343173	genome.wustl.edu	37	chr1	248637291	248637291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatcctcatgcttctcGcccccatcatggtcatctcc	5	12	6	18	1	5	0	3	0	2	0	8	0	6	0	4	1	2	3	4	1	0	1	rs1770109	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr1:248637291G>A	ENST00000359594.2	+	1	665	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A214T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGCTTCTCGCCCCCATCAT	0.557													.|||	954	0.190495	0.1263	0.1916	5008	,	,		17132	0.2867		0.1064	False		,,,				2504	0.2638																1	Substitution - Missense(1)	skin(1)											211	168	182					1																	248637291		2136	4233	6369	SO:0001583	missense	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"GPCR / Class A : Olfactory receptors"	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.640G>A	1.37:g.248637291G>A	ENSP00000352604:p.Ala214Thr		B2RNJ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A214T	ENST00000359594.2	37	c.640	CCDS31117.1	1	537	0.24587912087912087	86	0.17479674796747968	71	0.19613259668508287	238	0.4160839160839161	142	0.18733509234828497	g	13.03	2.115628	0.37339	.	.	ENSG00000196539	ENST00000359594	T	0.37235	1.21	2.37	-2.22	0.06952	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.10629	0.01	0.09310	N	1	P	0.39535	0.677	B	0.33568	0.166	T	0.42275	-0.9461	9	0.56958	D	0.05	.	0.5423	0.00647	0.2646:0.2059:0.3262:0.2032	rs1770109	214	Q8NH03	OR2T3_HUMAN	T	214	ENSP00000352604:A214T	ENSP00000352604:A214T	A	+	1	0	OR2T3	246703914	0.000000	0.05858	0.163000	0.22734	0.269000	0.26545	-1.638000	0.02013	0.011000	0.14865	0.186000	0.17326	GCC	OR2T3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000196539		0.557	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1		0	23	0	G	NM_001005495		248637291	1			no_errors	ENST00000359594	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.002	A	A	248637291	G	A	248637291	3	1	99	1	0	0	0	0	1	0	0	0	11062	1087	38	1	642	1	OR2T3	1	248637291	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	150118	248637291	613330	18	28135											
IFT172	26160	genome.wustl.edu	37	chr2	27668210	27668210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccagtgctcgctgccactAgggaggcctcgtaggcgcca	7	6	13	15	3	0	0	0	0	0	0	2	1	0	1	4	3	2	3	4	3	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:27668210A>G	ENST00000260570.3	-	46	5124	c.5021T>C	c.(5020-5022)cTa>cCa	p.L1674P	KRTCAP3_ENST00000543753.1_Intron	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1674					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CGCTGCCACTAGGGAGGCCTC	0.592																																																	0													28	28	28					2																	27668210		2203	4300	6503	SO:0001583	missense	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"Intraflagellar transport homologs", "WD repeat domain containing"	30391	protein-coding gene	gene with protein product	"wimple homolog"	607386	"intraflagellar transport 172 homolog (Chlamydomonas)"			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.5021T>C	2.37:g.27668210A>G	ENSP00000260570:p.Leu1674Pro		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.L1674P	ENST00000260570.3	37	c.5021	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	A	18.45	3.627511	0.66901	.	.	ENSG00000138002	ENST00000260570	T	0.57107	0.42	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000002	T	0.75568	0.3867	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.80634	-0.1295	10	0.87932	D	0	-7.1416	12.4452	0.55647	1.0:0.0:0.0:0.0	.	1674	Q9UG01	IF172_HUMAN	P	1674	ENSP00000260570:L1674P	ENSP00000260570:L1674P	L	-	2	0	IFT172	27521714	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	8.746000	0.91604	1.980000	0.57719	0.459000	0.35465	CTA	IFT172	-	NULL	ENSG00000138002		0.592	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	-	0	32	0	A	NM_015662		27668210	-1	tier1	-	no_errors	ENST00000260570	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	G	G	27668210	A	G	27668210	3	3	99	1	0	0	0	0	1	0	0	0	7584	420	15	4	240	4	IFT172	2	27668210	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09		27668210	215531163	19	28136											
ALK	238	genome.wustl.edu	37	chr2	29917827	29917827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctggttcctgaggtcatGcagtggaggggaatactcca	8	10	14	9	0	2	1	1	1	1	0	4	3	4	3	2	5	2	3	2	5	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:29917827G>T	ENST00000389048.3	-	3	1747	c.841C>A	c.(841-843)Cat>Aat	p.H281N	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	281	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTGAGGTCATGCAGTGGAGGG	0.567			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"L, E, M"	0													100	97	98					2																	29917827		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"CD molecules"	427	protein-coding gene	gene with protein product		105590	"anaplastic lymphoma kinase (Ki-1)"			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.841C>A	2.37:g.29917827G>T	ENSP00000373700:p.His281Asn		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H281N	ENST00000389048.3	37	c.841	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761702	0.49468	.	.	ENSG00000171094	ENST00000389048	T	0.01787	4.64	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);MAM domain (1);	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	0.80722	D	1	P	0.37914	0.611	B	0.41036	0.346	T	0.76307	-0.3007	8	.	.	.	.	16.1594	0.81686	0.0:0.0:1.0:0.0	.	281	Q9UM73	ALK_HUMAN	N	281	ENSP00000373700:H281N	.	H	-	1	0	ALK	29771331	1.000000	0.71417	0.996000	0.52242	0.520000	0.34377	3.566000	0.53805	2.885000	0.99019	0.655000	0.94253	CAT	ALK	-	superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom	ENSG00000171094		0.567	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	-	0	19	0	G	NM_004304		29917827	-1	tier1	-	no_errors	ENST00000389048	ensembl	human	known	74_37	missense	35.71	18	10	SNP	1.000	T	T	29917827	G	T	29917827	3	4	99	1	0	0	0	0	1	0	0	0	525	1319	46	3	4129	3	ALK	2	29917827	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	2249617	29917827	213281546	20	28137											
NRXN1	9378	genome.wustl.edu	37	chr2	50573871	50573871	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtgacctgtagattgcaaTaggcactgaatgatgcttgc	10	11	12	8	1	0	4	0	3	0	1	0	4	0	4	1	2	3	4	1	2	4	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:50573871T>C	ENST00000406316.2	-	18	4841				NRXN1_ENST00000406859.3_Intron|NRXN1_ENST00000401710.1_Intron|NRXN1_ENST00000405472.3_Intron|NRXN1_ENST00000331040.5_Intron|NRXN1_ENST00000401669.2_Intron|NRXN1_ENST00000402717.3_Intron|NRXN1_ENST00000342183.5_Missense_Mutation_p.I73V|NRXN1_ENST00000404971.1_Intron	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAGATTGCAATAGGCACTGAA	0.602																																																	0													101	79	87					2																	50573871		2203	4300	6503	SO:0001627	intron_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3365-109763A>G	2.37:g.50573871T>C			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G	p.I73V	ENST00000406316.2	37	c.217	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	T	12.61	1.989517	0.35131	.	.	ENSG00000179915	ENST00000342183	T	0.43294	0.95	5.05	3.9	0.45041	.	.	.	.	.	T	0.32526	0.0832	L	0.36672	1.1	0.80722	D	1	B	0.20459	0.045	B	0.12837	0.008	T	0.22452	-1.0216	9	0.66056	D	0.02	.	10.1274	0.42658	0.0:0.0792:0.0:0.9208	.	73	P58400	NRX1B_HUMAN	V	73	ENSP00000341184:I73V	ENSP00000341184:I73V	I	-	1	0	NRXN1	50427375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.940000	0.56599	1.916000	0.55485	0.379000	0.24179	ATT	NRXN1	-	NULL	ENSG00000179915		0.602	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	9	0	T			50573871	-1	tier1	-	no_errors	ENST00000342183	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	C	C	50573871	T	C	50573871	1	2	99	0	1	0	0	0	0	0	0	0	10704	1406	49	4		4	NRXN1	2	50573871	Intron	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	20656044	50573871	192625502	21	28138											
USP34	9736	genome.wustl.edu	37	chr2	61468742	61468742	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtattctctgccattttCttcctctggttccatgcgtt	3	21	6	11	1	3	0	0	0	3	0	6	0	5	0	3	1	2	3	3	1	1	8			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:61468742C>A	ENST00000398571.2	-	53	6806	c.6730G>T	c.(6730-6732)Gaa>Taa	p.E2244*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2244					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGCCATTTTCTTCCTCTGGT	0.299																																																	0													172	147	155					2																	61468742		1823	4089	5912	SO:0001587	stop_gained	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6730G>T	2.37:g.61468742C>A	ENSP00000381577:p.Glu2244*		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.E2244*	ENST00000398571.2	37	c.6730	CCDS42686.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.210468|6.210468	0.97380|0.97380	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734|ENST00000411912	.|.	.|.	.|.	5.51|5.51	4.63|4.63	0.57726|0.57726	.|.	0.047828|.	0.85682|.	D|.	0.000000|.	.|T	.|0.65471	.|0.2694	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71119	.|-0.4685	.|3	0.12430|.	T|.	0.62|.	.|.	14.8002|14.8002	0.69909|0.69909	0.0:0.9301:0.0:0.0699|0.0:0.9301:0.0:0.0699	.|.	.|.	.|.	.|.	X|I	2092;2092;2244;522|3	.|.	ENSP00000263989:E2092X|.	E|R	-|-	1|2	0|0	USP34|USP34	61322246|61322246	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.776000|7.776000	0.85560|0.85560	1.462000|1.462000	0.47948|0.47948	0.585000|0.585000	0.79938|0.79938	GAA|AGA	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.299	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0	34	0	C			61468742	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	nonsense	13.33	52	8	SNP	1.000	A	A	61468742	C	A	61468742	4	1	99	1	0	0	0	0	0	1	0	0	17114	922	32	3	4022	3	USP34	2	61468742	Nonsense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	10894871	61468742	181730631	22	28139											
DPP10	57628	genome.wustl.edu	37	chr2	116525872	116525872	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcttctgtattttaGaatgaggagcccgtgttttc	6	17	10	8	1	2	2	0	1	2	1	3	3	2	3	1	1	2	3	1	1	3	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:116525872G>T	ENST00000410059.1	+	13	1593		c.e13-1		DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTGTATTTTAGAATGAGGAGC	0.428																																																	0													106	101	103					2																	116525872		2203	4300	6503	SO:0001630	splice_region_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"dipeptidylpeptidase 10", "dipeptidyl-peptidase 10"			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1114-1G>T	2.37:g.116525872G>T			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Splice_Site	SNP	-	e13-1	ENST00000410059.1	37	c.1126-1	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.368861	0.82463	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5891	0.87991	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DPP10	116242342	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.473000	0.90410	2.724000	0.93272	0.655000	0.94253	.	DPP10	-	-	ENSG00000175497		0.428	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0	29	0	G	NM_020868	Intron	116525872	1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	splice_site	25.00	27	9	SNP	1.000	T	T	116525872	G	T	116525872	5	4	99	1	0	0	0	0	0	0	1	0	4741	956	33	3	1334	3	DPP10	2	116525872	Splice_Site	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	55057130	116525872	126673501	23	28140											
TUBA3E	112714	genome.wustl.edu	37	chr2	130951687	130951687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagggccccatcaaatCgcagggaggccgtgatggag	10	6	14	11	2	2	1	2	1	0	0	3	3	2	3	3	4	0	1	3	4	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:130951687C>A	ENST00000312988.7	-	4	828	c.728G>T	c.(727-729)cGa>cTa	p.R243L		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	243					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCATCAAATCGCAGGGAGGC	0.582																																																	0													210	151	171					2																	130951687		2203	4300	6503	SO:0001583	missense	0			BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"Tubulins"	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.728G>T	2.37:g.130951687C>A	ENSP00000318197:p.Arg243Leu			Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin	p.R243L	ENST00000312988.7	37	c.728	CCDS2158.1	2	.	.	.	.	.	.	.	.	.	.	c	7.912	0.736677	0.15574	.	.	ENSG00000152086	ENST00000312988	T	0.74209	-0.82	2.92	-0.0928	0.13655	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.47455	U	0.000225	D	0.87985	0.6316	H	0.99783	4.775	0.37576	D	0.919629	P	0.41159	0.74	P	0.51999	0.687	D	0.84086	0.0387	10	0.87932	D	0	.	4.5937	0.12319	0.0:0.5859:0.1829:0.2312	.	243	Q6PEY2	TBA3E_HUMAN	L	243	ENSP00000318197:R243L	ENSP00000318197:R243L	R	-	2	0	TUBA3E	130668157	0.240000	0.23847	0.152000	0.22495	0.017000	0.09413	2.451000	0.44952	-0.145000	0.11294	-0.384000	0.06662	CGA	TUBA3E	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000152086		0.582	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3E	HGNC	protein_coding	OTTHUMT00000254519.1		0	147	0	C	NM_207312		130951687	-1			no_errors	ENST00000312988	ensembl	human	known	74_37	missense	6.72	124	9	SNP	0.996	A	A	130951687	C	A	130951687	3	1	99	1	0	0	0	0	1	0	0	0	16797	884	31	2	632	2	TUBA3E	2	130951687	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	14425815	130951687	112247686	24	28141											
TUBA3D	113457	genome.wustl.edu	37	chr2	132237994	132237994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatcacagcctccctgcGatttgatggggccctgaatg	7	10	10	14	1	1	2	1	2	0	0	3	3	3	2	4	2	2	0	4	2	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:132237994G>T	ENST00000321253.6	+	4	835	c.728G>T	c.(727-729)cGa>cTa	p.R243L		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	243					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.R243Q(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCTCCCTGCGATTTGATGGG	0.567																																					Ovarian(137;2059 2432 35543 39401)												2	Substitution - Missense(2)	large_intestine(2)											87	119	109					2																	132237994		1982	4281	6263	SO:0001583	missense	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.728G>T	2.37:g.132237994G>T	ENSP00000326042:p.Arg243Leu		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.R243L	ENST00000321253.6	37	c.728	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	g	5.664	0.307194	0.10733	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.74209	-0.82	2.24	-1.18	0.09617	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.44688	U	0.000440	D	0.89629	0.6770	H	0.99783	4.775	0.36036	D	0.839721	D	0.71674	0.998	D	0.75020	0.985	D	0.84175	0.0436	10	0.87932	D	0	.	4.0589	0.09829	0.2665:0.1951:0.5383:0.0	.	243	Q13748	TBA3C_HUMAN	L	243	ENSP00000326042:R243L	ENSP00000326042:R243L	R	+	2	0	TUBA3D	131954464	0.879000	0.30193	0.614000	0.29051	0.020000	0.10135	3.620000	0.54203	-0.518000	0.06452	-1.031000	0.02408	CGA	TUBA3D	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000075886		0.567	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	-	0	52	0	G	NM_080386		132237994	1	tier1	-	no_errors	ENST00000321253	ensembl	human	known	74_37	missense	16.67	35	7	SNP	0.953	T	T	132237994	G	T	132237994	3	4	99	1	0	0	0	0	1	0	0	0	16796	1058	37	2	742	2	TUBA3D	2	132237994	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	1286307	132237994	110961379	25	28142											
TNFAIP6	7130	genome.wustl.edu	37	chr2	152226759	152226759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgtccatggctttgtggGaaggtacgtatgggtcccca	7	12	14	8	1	0	1	0	1	0	0	2	2	2	2	3	4	1	3	3	4	3	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:152226759G>T	ENST00000243347.3	+	4	695	c.620G>T	c.(619-621)gGa>gTa	p.G207V	RN7SL124P_ENST00000498656.2_RNA|MIR4773-1_ENST00000585225.1_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	207	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GGCTTTGTGGGAAGGTACGTA	0.383																																																	0													169	163	165					2																	152226759		2203	4300	6503	SO:0001583	missense	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.620G>T	2.37:g.152226759G>T	ENSP00000243347:p.Gly207Val		Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Link,superfamily_CUB_dom,superfamily_C-type_lectin_fold,smart_Link,smart_CUB_dom,pfscan_CUB_dom,pfscan_Link,prints_Link	p.G207V	ENST00000243347.3	37	c.620	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369644	0.82573	.	.	ENSG00000123610	ENST00000243347	T	0.28666	1.6	5.49	5.49	0.81192	CUB (5);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68538	-0.5382	10	0.87932	D	0	.	19.3531	0.94398	0.0:0.0:1.0:0.0	.	207	P98066	TSG6_HUMAN	V	207	ENSP00000243347:G207V	ENSP00000243347:G207V	G	+	2	0	TNFAIP6	151935005	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	9.410000	0.97335	2.563000	0.86464	0.555000	0.69702	GGA	TNFAIP6	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000123610		0.383	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	-	0	31	0	G	NM_007115		152226759	1	tier1	-	no_errors	ENST00000243347	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T	T	152226759	G	T	152226759	3	4	99	1	0	0	0	0	1	0	0	0	16322	1174	41	3	634	3	TNFAIP6	2	152226759	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	19988765	152226759	90972614	26	28143											
DYNC1I2	1781	genome.wustl.edu	37	chr2	172585301	172585301	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccctgttggagatgtCaacaactttgttgttgggag	7	15	11	8	0	1	1	1	0	0	1	3	3	3	2	2	2	2	3	2	2	2	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:172585301C>A	ENST00000397119.3	+	14	1499	c.1332C>A	c.(1330-1332)gtC>gtA	p.V444V	DYNC1I2_ENST00000409197.1_Silent_p.V418V|DYNC1I2_ENST00000409453.1_Silent_p.V444V|DYNC1I2_ENST00000358002.6_Silent_p.V436V|DYNC1I2_ENST00000410079.3_Silent_p.V436V|DYNC1I2_ENST00000534253.2_Silent_p.V444V|DYNC1I2_ENST00000263811.4_Silent_p.V438V|DYNC1I2_ENST00000340296.4_Silent_p.V418V|DYNC1I2_ENST00000409317.1_Silent_p.V438V|DYNC1I2_ENST00000508530.1_Silent_p.V418V|DYNC1I2_ENST00000409773.1_Silent_p.V444V	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	444					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TTGGAGATGTCAACAACTTTG	0.403																																																	0													68	65	66					2																	172585301		1863	4096	5959	SO:0001819	synonymous_variant	0			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"Cytoplasmic dyneins", "WD repeat domain containing"	2964	protein-coding gene	gene with protein product		603331	"dynein, cytoplasmic, intermediate polypeptide 2"	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1332C>A	2.37:g.172585301C>A			B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Silent	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V444	ENST00000397119.3	37	c.1332	CCDS46450.1	2																																																																																			DYNC1I2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000077380		0.403	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2		0	68	0	C	NM_001378		172585301	1			no_errors	ENST00000397119	ensembl	human	known	74_37	silent	5.00	56	3	SNP	1.000	A	A	172585301	C	A	172585301	2	1	99	1	0	0	0	0	0	0	0	1	4857	813	29	3		3	DYNC1I2	2	172585301	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	20358542	172585301	70614072	27	28144											
MOBKL3	25843	genome.wustl.edu	37	chr2	198400257	198400257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttctttgtttttagtatAttcaacagaacataagagca	15	15	5	6	0	2	2	1	0	1	2	2	2	2	2	0	0	4	3	0	0	7	9			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:198400257A>G	ENST00000323303.4	+	3	382	c.127A>G	c.(127-129)Att>Gtt	p.I43V	MOB4_ENST00000448447.2_Missense_Mutation_p.I22V|MOB4_ENST00000233892.4_Missense_Mutation_p.I11V|MOB4_ENST00000409360.1_Missense_Mutation_p.I11V|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.I79V|MOB4_ENST00000409916.1_5'UTR|MOB4_ENST00000497443.1_Intron	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	43					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										TTTTTAGTATATTCAACAGAA	0.308																																																	0													84	90	88					2																	198400257		2203	4300	6503	SO:0001583	missense	0			AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"MOB kinase activators"	17261	protein-coding gene	gene with protein product	"phocein", "phocein, Mob-like protein"	609361	"preimplantation protein 3", "MOB1, Mps One Binder kinase activator-like 3 (yeast)"	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.127A>G	2.37:g.198400257A>G	ENSP00000315702:p.Ile43Val		B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.I43V	ENST00000323303.4	37	c.127	CCDS2321.1	2	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366208	0.82463	.	.	ENSG00000115540	ENST00000233892;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.85168	0.5635	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.87556	0.2468	9	0.44086	T	0.13	.	14.9787	0.71296	1.0:0.0:0.0:0.0	.	22;43	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	V	11;43;22;11	.	ENSP00000233892:I11V	I	+	1	0	PHOCN	198108502	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.163000	0.94750	2.009000	0.58944	0.377000	0.23210	ATT	MOB4	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000115540		0.308	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB4	HGNC	protein_coding	OTTHUMT00000256110.4	-	0	24	0	A	NM_015387		198400257	1	tier1	-	no_errors	ENST00000323303	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	G	G	198400257	A	G	198400257	3	3	99	1	0	0	0	0	1	0	0	0	9725	449	16	4	137	4	MOBKL3	2	198400257	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	25814956	198400257	44799116	28	28145											
ACCN4	55515	genome.wustl.edu	37	chr2	220396750	220396750	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtttgaggcaggtattcGggtgcagatccacagccagg	8	9	15	9	2	0	2	0	1	0	1	3	2	1	2	2	4	2	4	2	4	1	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:220396750G>C	ENST00000347842.3	+	3	1150	c.1136G>C	c.(1135-1137)cGg>cCg	p.R379P	ASIC4_ENST00000358078.4_Missense_Mutation_p.R379P|ASIC4_ENST00000473709.1_3'UTR	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	379					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GCAGGTATTCGGGTGCAGATC	0.632																																																	0													103	111	108					2																	220396750		2203	4300	6503	SO:0001583	missense	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"Ion channels / Acid-sensing (proton-gated) ion channels"	21263	protein-coding gene	gene with protein product		606715	"amiloride-sensitive cation channel 4, pituitary", "amiloride-sensitive cation channel family member 4, pituitary"	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1136G>C	2.37:g.220396750G>C	ENSP00000326627:p.Arg379Pro		Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC	p.R379P	ENST00000347842.3	37	c.1136	CCDS2442.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960573	0.74016	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.66460	-0.21;-0.21	3.8	3.8	0.43715	.	0.000000	0.64402	D	0.000001	T	0.81273	0.4788	M	0.82630	2.6	0.54753	D	0.999984	D;D;D	0.67145	0.988;0.992;0.996	P;D;P	0.64237	0.831;0.923;0.805	D	0.85531	0.1209	10	0.87932	D	0	-18.7352	15.8578	0.78994	0.0:0.0:1.0:0.0	.	379;379;379	Q96FT7;Q96FT7-4;Q96FT7-2	ACCN4_HUMAN;.;.	P	379	ENSP00000326627:R379P;ENSP00000350786:R379P	ENSP00000326627:R379P	R	+	2	0	ACCN4	220104994	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	3.339000	0.52135	2.152000	0.67230	0.561000	0.74099	CGG	ASIC4	-	pfam_Na+channel_ASC	ENSG00000072182		0.632	ASIC4-001	KNOWN	basic|CCDS	protein_coding	ASIC4	HGNC	protein_coding	OTTHUMT00000130263.1	-	0	18	0	G	NM_018674		220396750	1	tier1	-	no_errors	ENST00000347842	ensembl	human	known	74_37	missense	76.00	6	19	SNP	1.000	C	C	220396750	G	C	220396750	3	2	99	1	0	0	0	0	1	0	0	0	131	1116	39	5	1146	5	ACCN4	2	220396750	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	21996493	220396750	22802623	29	28146											
DOCK10	55619	genome.wustl.edu	37	chr2	225664979	225664979	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctatttcattggagttGcctataaaatacaaaataaa	17	14	5	5	0	2	0	1	0	1	0	2	1	2	1	1	1	2	1	1	1	9	8			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:225664979G>T	ENST00000258390.7	-	41	4462	c.4395C>A	c.(4393-4395)agC>agA	p.S1465R	DOCK10_ENST00000409592.3_Splice_Site_p.S1459R	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1465					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATTGGAGTTGCCTATAAAAT	0.378																																																	0													87	80	82					2																	225664979		1846	4095	5941	SO:0001630	splice_region_variant	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4394-1C>A	2.37:g.225664979G>T			B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1465R	ENST00000258390.7	37	c.4395	CCDS46528.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.709|8.709	0.911644|0.911644	0.17833|0.17833	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390;ENST00000373702	.|T;T	.|0.67865	.|3.49;-0.29	5.65|5.65	3.81|3.81	0.43845|0.43845	.|.	.|0.450854	.|0.29145	.|N	.|0.013004	T|T	0.45796|0.45796	0.1360|0.1360	N|N	0.19112|0.19112	0.55|0.55	0.29738|0.29738	N|N	0.83733|0.83733	.|P;B;P;B	.|0.47841	.|0.536;0.165;0.901;0.186	.|B;B;B;B	.|0.38616	.|0.189;0.043;0.277;0.122	T|T	0.43956|0.43956	-0.9359|-0.9359	5|10	.|0.25751	.|T	.|0.34	.|.	9.7563|9.7563	0.40504|0.40504	0.2697:0.0:0.7303:0.0|0.2697:0.0:0.7303:0.0	.|.	.|1465;319;1459;127	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	E|R	347|1459;1465;3	.|ENSP00000386694:S1459R;ENSP00000258390:S1465R	.|ENSP00000258390:S1465R	A|S	-|-	2|3	0|2	DOCK10|DOCK10	225373223|225373223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.617000|0.617000	0.37484|0.37484	1.051000|1.051000	0.30417|0.30417	1.505000|1.505000	0.48720|0.48720	0.650000|0.650000	0.86243|0.86243	GCA|AGC	DOCK10	-	superfamily_ARM-type_fold	ENSG00000135905		0.378	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1		0	12	0	G		Missense_Mutation	225664979	-1			no_errors	ENST00000258390	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	225664979	G	T	225664979	5	4	99	1	0	0	0	0	0	0	1	0	4699	1333	46	3	2229	3	DOCK10	2	225664979	Splice_Site	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	5268229	225664979	17534394	30	28147											
SAG	6295	genome.wustl.edu	37	chr2	234224723	234224723	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgttcttcttgcaggtGaccatctacctggggaacag	8	11	10	12	0	3	1	0	1	3	0	3	2	3	2	3	3	3	2	3	3	2	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr2:234224723G>T	ENST00000409110.1	+	3	308	c.78G>T	c.(76-78)gtG>gtT	p.V26V		NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	26					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCTTGCAGGTGACCATCTACC	0.507																																																	0													103	98	99					2																	234224723		1952	4158	6110	SO:0001819	synonymous_variant	0				CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"arrestin 1"	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.78G>T	2.37:g.234224723G>T			A0FDN6|Q53SV3|Q99858	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.V26	ENST00000409110.1	37	c.78	CCDS46545.1	2																																																																																			SAG	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000130561		0.507	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAG	HGNC	protein_coding	OTTHUMT00000330126.1		0	40	0	G	NM_000541		234224723	1			no_errors	ENST00000409110	ensembl	human	known	74_37	silent	6.12	46	3	SNP	1.000	T	T	234224723	G	T	234224723	2	4	99	1	0	0	0	0	0	0	0	1	13853	1277	45	3		3	SAG	2	234224723	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	8559744	234224723	8974650	31	28148											
CNTN6	27255	genome.wustl.edu	37	chr3	1339605	1339605	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgaaccaaagattgaaGtgcgttttcctgaaactata	16	12	7	6	1	0	4	0	3	0	1	1	4	1	4	2	0	3	1	2	0	8	6	rs373831062		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:1339605G>C	ENST00000446702.2	+	7	1318	c.691G>C	c.(691-693)Gtg>Ctg	p.V231L	CNTN6_ENST00000350110.2_Missense_Mutation_p.V231L|CNTN6_ENST00000539053.1_Missense_Mutation_p.V159L			Q9UQ52	CNTN6_HUMAN	contactin 6	231	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAGATTGAAGTGCGTTTTCC	0.353																																																	0								G	LEU/VAL	0,4406		0,0,2203	130	137	135		691	4	1	3		135	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTN6	NM_014461.2	32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	231/1029	1339605	1,13005	2203	4300	6503	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.691G>C	3.37:g.1339605G>C	ENSP00000407822:p.Val231Leu		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V231L	ENST00000446702.2	37	c.691	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744425	0.69418	0.0	1.16E-4	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.77489	-1.1;-1.1;-1.1	4.95	4.01	0.46588	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117868	0.38111	N	0.001809	T	0.76730	0.4028	L	0.39633	1.23	0.48135	D	0.999597	P;P	0.40398	0.664;0.716	P;B	0.48571	0.582;0.393	T	0.76629	-0.2889	10	0.40728	T	0.16	.	14.6986	0.69139	0.0:0.1457:0.8542:0.0	.	159;231	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	L	231;159;231	ENSP00000407822:V231L;ENSP00000442791:V159L;ENSP00000341882:V231L	ENSP00000341882:V231L	V	+	1	0	CNTN6	1314605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.285000	0.72658	2.443000	0.82685	0.650000	0.86243	GTG	CNTN6	-	pfscan_Ig-like_dom	ENSG00000134115		0.353	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	-	0	53	0	G	NM_014461		1339605	1	tier1	-	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	11.67	53	7	SNP	1.000	C	C	1339605	G	C	1339605	3	2	99	1	0	0	0	0	1	0	0	0	3652	1029	36	5	713	5	CNTN6	3	1339605	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		1339605	196682825	32	28149											
CNTN6	27255	genome.wustl.edu	37	chr3	1444141	1444141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagatggaagcagcaGtgaggaaattaggattccaa	14	8	15	4	0	0	2	0	1	0	1	1	6	1	5	1	5	2	2	1	5	4	2	rs200347218	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:1444141G>T	ENST00000446702.2	+	22	3584	c.2957G>T	c.(2956-2958)aGt>aTt	p.S986I	CNTN6_ENST00000350110.2_Missense_Mutation_p.S986I|CNTN6_ENST00000539053.1_Missense_Mutation_p.S914I			Q9UQ52	CNTN6_HUMAN	contactin 6	986	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGAAGCAGCAGTGAGGAAATT	0.398																																																	0													117	112	114					3																	1444141		2203	4299	6502	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2957G>T	3.37:g.1444141G>T	ENSP00000407822:p.Ser986Ile		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S986I	ENST00000446702.2	37	c.2957	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787808	0.90367	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.63913	-0.07;-0.07;-0.07	5.46	5.46	0.80206	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.81772	0.4893	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83463	0.0055	10	0.59425	D	0.04	.	19.3156	0.94211	0.0:0.0:1.0:0.0	.	986	Q9UQ52	CNTN6_HUMAN	I	986;914;986	ENSP00000407822:S986I;ENSP00000442791:S914I;ENSP00000341882:S986I	ENSP00000341882:S986I	S	+	2	0	CNTN6	1419141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.199000	0.95003	2.567000	0.86603	0.655000	0.94253	AGT	CNTN6	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000134115		0.398	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2		0	16	0	G	NM_014461		1444141	1			no_errors	ENST00000350110	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	T	T	1444141	G	T	1444141	3	4	99	1	0	0	0	0	1	0	0	0	3652	1029	36	3	3039	3	CNTN6	3	1444141	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	104536	1444141	196578289	33	28150											
RFTN1	23180	genome.wustl.edu	37	chr3	16368365	16368365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcaggggcacgtagtCtgtctgcacttcgacaccct	7	10	11	13	2	3	0	1	0	2	0	4	1	3	0	1	2	2	5	1	2	1	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:16368365C>A	ENST00000334133.4	-	8	1437	c.1165G>T	c.(1165-1167)Gac>Tac	p.D389Y	OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.D353Y|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	389					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGCACGTAGTCTGTCTGCACT	0.572																																																	0													52	44	47					3																	16368365		2203	4300	6503	SO:0001583	missense	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1165G>T	3.37:g.16368365C>A	ENSP00000334153:p.Asp389Tyr		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	NULL	p.D389Y	ENST00000334133.4	37	c.1165	CCDS33712.1	3	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449219	0.84101	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.60672	0.17;0.17	5.31	5.31	0.75309	.	0.049657	0.85682	D	0.000000	T	0.77465	0.4134	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80437	-0.1383	10	0.87932	D	0	-32.2596	17.7582	0.88456	0.0:1.0:0.0:0.0	.	353;389	G3XAJ6;Q14699	.;RFTN1_HUMAN	Y	353;389	ENSP00000403926:D353Y;ENSP00000334153:D389Y	ENSP00000334153:D389Y	D	-	1	0	RFTN1	16343369	1.000000	0.71417	0.993000	0.49108	0.883000	0.51084	7.023000	0.76437	2.494000	0.84150	0.650000	0.86243	GAC	RFTN1	-	NULL	ENSG00000131378		0.572	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	-	0	45	0	C	NM_015150		16368365	-1	tier1	-	no_errors	ENST00000334133	ensembl	human	known	74_37	missense	26.42	39	14	SNP	1.000	A	A	16368365	C	A	16368365	3	1	99	1	0	0	0	0	1	0	0	0	13303	913	32	3	583	3	RFTN1	3	16368365	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	14924224	16368365	181654065	34	28151											
SGOL1	151648	genome.wustl.edu	37	chr3	20216539	20216539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgtcttgaggaatagtagGtatctgatctgagaatttaa	12	15	11	3	0	3	3	0	3	3	1	3	5	3	4	0	2	0	2	0	2	6	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:20216539G>C	ENST00000263753.4	-	6	623	c.484C>G	c.(484-486)Cct>Gct	p.P162A	SGOL1_ENST00000419233.2_Missense_Mutation_p.P162A|SGOL1_ENST00000383774.1_Missense_Mutation_p.P162A|SGOL1_ENST00000417364.1_Missense_Mutation_p.P162A|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.P162A|SGOL1_ENST00000425061.1_Missense_Mutation_p.P162A|SGOL1_ENST00000443724.1_Missense_Mutation_p.P162A|SGOL1_ENST00000421451.1_Missense_Mutation_p.P162A|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.P162A|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000437051.1_Missense_Mutation_p.P162A|SGOL1_ENST00000306698.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	162	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GGAATAGTAGGTATCTGATCT	0.313																																																	0													37	37	37					3																	20216539		2202	4299	6501	SO:0001583	missense	0			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.484C>G	3.37:g.20216539G>C	ENSP00000263753:p.Pro162Ala		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.P162A	ENST00000263753.4	37	c.484	CCDS33716.1	3	.	.	.	.	.	.	.	.	.	.	G	5.262	0.233744	0.09969	.	.	ENSG00000129810	ENST00000419233;ENST00000263753;ENST00000383774;ENST00000425061;ENST00000443724;ENST00000421451;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000417364	T;T;T;T;T;T;T;T;T;T	0.43688	0.94;1.54;0.95;0.94;0.95;1.54;1.57;0.96;1.57;0.96	6.03	-2.17	0.07059	.	0.511626	0.22674	N	0.057034	T	0.25344	0.0616	L	0.56769	1.78	0.09310	N	0.999997	B;B;B;B;B	0.29988	0.112;0.264;0.112;0.112;0.068	B;B;B;B;B	0.20955	0.032;0.03;0.013;0.019;0.014	T	0.16364	-1.0405	10	0.15499	T	0.54	.	3.0096	0.06040	0.5403:0.1281:0.2013:0.1302	.	162;162;162;162;162	Q5FBB7-7;B5BUA4;Q5FBB7-4;Q5FBB7-2;Q5FBB7	.;.;.;.;SGOL1_HUMAN	A	162	ENSP00000394625:P162A;ENSP00000263753:P162A;ENSP00000373284:P162A;ENSP00000414960:P162A;ENSP00000413070:P162A;ENSP00000414129:P162A;ENSP00000410458:P162A;ENSP00000389034:P162A;ENSP00000406880:P162A;ENSP00000394613:P162A	ENSP00000263753:P162A	P	-	1	0	SGOL1	20191543	0.022000	0.18835	0.000000	0.03702	0.004000	0.04260	0.544000	0.23253	-0.278000	0.09180	-0.300000	0.09419	CCT	SGOL1	-	NULL	ENSG00000129810		0.313	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1		0	25	0	G	NM_138484		20216539	-1			no_errors	ENST00000263753	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.000	C	C	20216539	G	C	20216539	3	2	99	1	0	0	0	0	1	0	0	0	14261	1261	44	5	1237	5	SGOL1	3	20216539	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	3848174	20216539	177805891	35	28152											
TRAK1	22906	genome.wustl.edu	37	chr3	42251577	42251578	+	Intron	INS	-	-	GGA																															caggagccgccagcggccacINSggaggaggaggaggaggagg																								rs10634555|rs35624871		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:42251577_42251578insGGA	ENST00000327628.5	+	14	2363				TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_In_Frame_Ins_p.640_641insE|TRAK1_ENST00000396175.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.E640delE(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAGCGGCCACggaggaggagg	0.629																																					GBM(44;195 884 22595 31865 41850)												1	Deletion - In frame(1)	kidney(1)																																								SO:0001627	intron_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"OGT(O Glc NAc transferase) interacting protein 106 KDa", "O-linked N-acetylglucosamine transferase interacting protein 106", "milton homolog 1 (Drosophila)"	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+100->GGA	3.37:g.42251584_42251586dupGGA			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	In_Frame_Ins	INS	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.634in_frame_insE	ENST00000327628.5	37	c.1889_1890	CCDS43072.1	3																																																																																			TRAK1	-	NULL	ENSG00000182606		0.629	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1		0	15	0	-	NM_014965		42251578	1	tier1		no_errors	ENST00000341421	ensembl	human	known	74_37	in_frame_ins	33.33	10	5	INS	0.010:0.044	GGA	GGA	42251578	-	GGA	42251577	6	5	99	0	1	1	1	0	0	0	0	0	16497	536	19	0		0	TRAK1	3	42251577	Intron	INS	-	TCGA-LN-A49L-01A-11D-A247-09	22035038	42251577	155770853	36	28153											
NBEAL2	23218	genome.wustl.edu	37	chr3	47039969	47039969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtcacatccagtacatGtccagcatagttcgggagca	11	9	10	11	1	2	0	2	0	0	0	5	1	4	1	2	2	3	4	2	2	2	3	rs373596976		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:47039969G>T	ENST00000450053.3	+	22	3314	c.3135G>T	c.(3133-3135)atG>atT	p.M1045I	NBEAL2_ENST00000292309.5_Missense_Mutation_p.M1045I|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1045					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCCAGTACATGTCCAGCATAG	0.592											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													48	50	49					3																	47039969		2069	4216	6285	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"WD repeat domain containing"	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3135G>T	3.37:g.47039969G>T	ENSP00000415034:p.Met1045Ile	943	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M1045I	ENST00000450053.3	37	c.3135	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.68|13.68	2.309360|2.309360	0.40895|0.40895	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.51325	.|1.1;0.71	5.31|5.31	4.43|4.43	0.53597|0.53597	.|Armadillo-like helical (1);	.|0.252028	.|0.40302	.|N	.|0.001122	T|T	0.31702|0.31702	0.0805|0.0805	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.10989|0.10989	-1.0606|-1.0606	5|10	.|0.45353	.|T	.|0.12	.|.	8.5399|8.5399	0.33386|0.33386	0.082:0.1542:0.7638:0.0|0.082:0.1542:0.7638:0.0	.|.	.|1045	.|Q6ZNJ1	.|NBEL2_HUMAN	F|I	517|1045	.|ENSP00000292309:M1045I;ENSP00000415034:M1045I	.|ENSP00000292309:M1045I	C|M	+|+	2|3	0|0	NBEAL2|NBEAL2	47014973|47014973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	1.266000|1.266000	0.33039|0.33039	1.468000|1.468000	0.48064|0.48064	0.561000|0.561000	0.74099|0.74099	TGT|ATG	NBEAL2	-	NULL	ENSG00000160796		0.592	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3		0	24	0	G	XM_291064		47039969	1			no_errors	ENST00000450053	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	T	T	47039969	G	T	47039969	3	4	99	1	0	0	0	0	1	0	0	0	10227	1377	48	3	3221	3	NBEAL2	3	47039969	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	4788392	47039969	150982461	37	28154											
FAM19A4	151647	genome.wustl.edu	37	chr3	68802149	68802149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaccacctcacaggtccCttgcttgatttggtggtgac	6	11	12	12	1	1	2	1	2	0	0	2	3	2	2	3	4	1	1	3	4	0	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:68802149C>T	ENST00000295569.7	-	4	643	c.151G>A	c.(151-153)Ggg>Agg	p.G51R		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	51						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCACAGGTCCCTTGCTTGATT	0.507																																																	0													70	61	64					3																	68802149		2203	4300	6503	SO:0001583	missense	0			AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.151G>A	3.37:g.68802149C>T	ENSP00000295569:p.Gly51Arg		A8MVT2	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.G51R	ENST00000295569.7	37	c.151	CCDS2907.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.159526	0.94686	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.82323	2.585	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.86223	0.1632	9	0.87932	D	0	-24.5778	19.0949	0.93246	0.0:1.0:0.0:0.0	.	51	Q96LR4	F19A4_HUMAN	R	51	.	ENSP00000295569:G51R	G	-	1	0	FAM19A4	68884839	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	7.764000	0.85297	2.508000	0.84585	0.591000	0.81541	GGG	FAM19A4	-	pfam_Chemokine-like_FAM19A2	ENSG00000163377		0.507	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A4	HGNC	protein_coding	OTTHUMT00000352002.1	-	0	16	0	C	NM_182522		68802149	-1	tier1	-	no_errors	ENST00000295569	ensembl	human	known	74_37	missense	60.87	9	14	SNP	1.000	T	T	68802149	C	T	68802149	3	4	99	1	0	0	0	0	1	0	0	0	5553	681	24	3	283	3	FAM19A4	3	68802149	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	21762180	68802149	129220281	38	28155											
TMEM45A	55076	genome.wustl.edu	37	chr3	100295770	100295770	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttttctttctcctcaggTtggttaaatctagacttaag	8	18	7	8	0	4	1	1	0	3	1	5	1	4	1	1	2	1	3	1	2	4	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:100295770T>G	ENST00000323523.4	+	6	1049	c.736T>G	c.(736-738)Ttg>Gtg	p.L246V	TMEM45A_ENST00000403410.1_Splice_Site_p.L262V	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	246						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						TCTCCTCAGGTTGGTTAAATC	0.383																																																	0													102	107	105					3																	100295770		2203	4300	6503	SO:0001630	splice_region_variant	0			AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.735-1T>G	3.37:g.100295770T>G			Q53YW5	Missense_Mutation	SNP	pfam_DUF716_TMEM45	p.L246V	ENST00000323523.4	37	c.736	CCDS2937.1	3	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118145	0.37339	.	.	ENSG00000181458	ENST00000323523;ENST00000403410	T;T	0.32988	1.44;1.43	5.71	4.55	0.56014	.	0.422043	0.23014	N	0.052940	T	0.26085	0.0636	M	0.62723	1.935	0.30818	N	0.738112	B	0.23442	0.085	B	0.17979	0.02	T	0.23226	-1.0194	10	0.22706	T	0.39	-11.8211	5.2907	0.15725	0.1558:0.0829:0.0:0.7613	.	246	Q9NWC5	TM45A_HUMAN	V	246;262	ENSP00000319009:L246V;ENSP00000385089:L262V	ENSP00000319009:L246V	L	+	1	2	TMEM45A	101778460	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.668000	0.37481	0.997000	0.38969	-0.250000	0.11733	TTG	TMEM45A	-	NULL	ENSG00000181458		0.383	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM45A	HGNC	protein_coding	OTTHUMT00000317571.1	-	0	26	0	T	NM_018004	Missense_Mutation	100295770	1	tier1	-	no_errors	ENST00000323523	ensembl	human	known	74_37	missense	30.43	32	14	SNP	1.000	G	G	100295770	T	G	100295770	5	3	99	1	0	0	0	0	0	0	1	0	16216	1739	60	4	754	4	TMEM45A	3	100295770	Splice_Site	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	31493621	100295770	97726660	39	28156											
NFKBIZ	64332	genome.wustl.edu	37	chr3	101575996	101575996	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcgcctctttttggagcTgcccagttgcctgtcttttg	3	17	9	12	1	2	0	0	0	2	0	3	1	2	1	3	1	3	2	3	1	0	6	rs1043339		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:101575996T>G	ENST00000326172.5	+	10	2019	c.1904T>G	c.(1903-1905)cTg>cGg	p.L635R	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.L535R|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.L513R	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	635	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TTTTTGGAGCTGCCCAGTTGC	0.483																																																	0													106	120	116					3																	101575996		2203	4300	6503	SO:0001583	missense	0			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"Ankyrin repeat domain containing"	29805	protein-coding gene	gene with protein product	"IL-1 inducible nuclear ankyrin-repeat protein"	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1904T>G	3.37:g.101575996T>G	ENSP00000325663:p.Leu635Arg		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L635R	ENST00000326172.5	37	c.1904	CCDS2946.1	3	.	.	.	.	.	.	.	.	.	.	T	17.90	3.502366	0.64298	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.98	5.98	0.97165	Ankyrin repeat-containing domain (4);	0.087947	0.47852	D	0.000211	T	0.44477	0.1295	N	0.20574	0.59	0.45995	D	0.998806	D;D	0.71674	0.994;0.998	P;D	0.72625	0.905;0.978	T	0.30794	-0.9966	10	0.23891	T	0.37	-14.4252	16.4696	0.84102	0.0:0.0:0.0:1.0	rs1043339;rs1043339	513;635	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	R	535;535;513;635	ENSP00000419800:L535R;ENSP00000377618:L535R;ENSP00000325593:L513R;ENSP00000325663:L635R	ENSP00000325593:L513R	L	+	2	0	NFKBIZ	103058686	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.321000	0.51999	2.289000	0.77006	0.482000	0.46254	CTG	NFKBIZ	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000144802		0.483	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKBIZ	HGNC	protein_coding	OTTHUMT00000353793.1	-	0	25	0	T	NM_031419		101575996	1	tier1	rs1043339	no_errors	ENST00000326172	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	G	G	101575996	T	G	101575996	3	3	99	1	0	0	0	0	1	0	0	0	10422	1580	55	4	1942	4	NFKBIZ	3	101575996	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	1280226	101575996	96446434	40	28157											
CCDC58	131076	genome.wustl.edu	37	chr3	122087027	122087027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgttcaacttacctttGtctgctcttttctaagttgt	6	21	5	9	0	5	0	1	0	4	0	5	0	5	0	1	0	3	3	1	0	3	8			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:122087027G>T	ENST00000291458.5	-	3	326	c.320C>A	c.(319-321)aCa>aAa	p.T107K	CCDC58_ENST00000479899.1_Missense_Mutation_p.T93K|CCDC58_ENST00000497726.1_Intron|CCDC58_ENST00000466854.1_5'Flank	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	107						mitochondrion (GO:0005739)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		ACTTACCTTTGTCTGCTCTTT	0.318																																																	0													100	101	101					3																	122087027		2202	4298	6500	SO:0001583	missense	0			AK090592	CCDS33838.1	3q21.1	2006-01-17			ENSG00000160124	ENSG00000160124			31136	protein-coding gene	gene with protein product							Standard	XM_005247108		Approved	FLJ33273	uc003eey.3	Q4VC31	OTTHUMG00000159490	ENST00000291458.5:c.320C>A	3.37:g.122087027G>T	ENSP00000291458:p.Thr107Lys		Q32LY6	Missense_Mutation	SNP	pfam_Caffeine_induced_death_Cid2	p.T107K	ENST00000291458.5	37	c.320	CCDS33838.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.505762|4.505762	0.85282|0.85282	.|.	.|.	ENSG00000160124|ENSG00000160124	ENST00000479414|ENST00000291458;ENST00000479899	.|.	.|.	.|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.046783	.|0.85682	.|D	.|0.000000	T|T	0.72550|0.72550	0.3474|0.3474	M|M	0.78801|0.78801	2.425|2.425	0.53688|0.53688	D|D	0.999977|0.999977	.|D	.|0.54772	.|0.968	.|P	.|0.50314	.|0.637	T|T	0.76008|0.76008	-0.3116|-0.3116	5|9	.|0.52906	.|T	.|0.07	.|.	17.846|17.846	0.88730|0.88730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|107	.|Q4VC31	.|CCD58_HUMAN	E|K	103|107;93	.|.	.|ENSP00000291458:T107K	D|T	-|-	3|2	2|0	CCDC58|CCDC58	123569717|123569717	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.696000|8.696000	0.91302|0.91302	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	GAC|ACA	CCDC58	-	pfam_Caffeine_induced_death_Cid2	ENSG00000160124		0.318	CCDC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC58	HGNC	protein_coding	OTTHUMT00000355754.1	-	0	22	0	G	NM_001017928		122087027	-1	tier1	-	no_errors	ENST00000291458	ensembl	human	known	74_37	missense	23.08	50	15	SNP	1.000	T	T	122087027	G	T	122087027	3	4	99	1	0	0	0	0	1	0	0	0	2835	1377	48	3	126	3	CCDC58	3	122087027	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	20511031	122087027	75935403	41	28158											
KALRN	8997	genome.wustl.edu	37	chr3	124174024	124174024	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggccatcttttggggcagCaaacaaaggagaaggtgaag	15	6	14	6	0	1	2	0	1	1	1	1	3	1	2	1	5	2	2	1	5	5	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:124174024C>A	ENST00000240874.3	+	22	3704	c.3547C>A	c.(3547-3549)Caa>Aaa	p.Q1183K	KALRN_ENST00000460856.1_Splice_Site_p.Q1174K|KALRN_ENST00000360013.3_Splice_Site_p.Q1183K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1183					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTTGGGGCAGCAAACAAAGGA	0.473																																																	0													93	87	89					3																	124174024		2203	4300	6503	SO:0001630	splice_region_variant	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3547-1C>A	3.37:g.124174024C>A			A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.Q1183K	ENST00000240874.3	37	c.3547	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.979596|3.979596	0.74360|0.74360	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.40476|.	1.03;1.03;1.03|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71400|0.71400	0.3335|0.3335	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	P;P;D;P|.	0.53885|.	0.884;0.542;0.963;0.859|.	P;B;D;P|.	0.68621|.	0.626;0.216;0.959;0.492|.	T|T	0.69950|0.69950	-0.5006|-0.5006	10|5	0.36615|.	T|.	0.2|.	.|.	17.8492|17.8492	0.88740|0.88740	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1174;529;1183;1183|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	K|R	1174;1183;1183|1151	ENSP00000418611:Q1174K;ENSP00000240874:Q1183K;ENSP00000353109:Q1183K|.	ENSP00000240874:Q1183K|.	Q|S	+|+	1|3	0|2	KALRN|KALRN	125656714|125656714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	7.644000|7.644000	0.83416|0.83416	2.450000|2.450000	0.82876|0.82876	0.446000|0.446000	0.29264|0.29264	CAA|AGC	KALRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160145		0.473	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	-	0	34	0	C	NM_003947	Missense_Mutation	124174024	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	37.93	36	22	SNP	1.000	A	A	124174024	C	A	124174024	5	1	99	1	0	0	0	0	0	0	1	0	8002	724	25	3	3633	3	KALRN	3	124174024	Splice_Site	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	2086997	124174024	73848406	42	28159											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125824715	125824715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccctggtgaagacaccaGaagccaggccaaattccgtg	11	7	11	12	1	0	3	0	1	0	2	2	3	2	3	5	2	1	0	5	2	3	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:125824715G>A	ENST00000393434.2	-	22	2856	c.2507C>T	c.(2506-2508)tCt>tTt	p.S836F	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S735F|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S846F|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S836F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	836	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GAAGACACCAGAAGCCAGGCC	0.567																																																	0													149	138	142					3																	125824715		2203	4300	6503	SO:0001583	missense	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2507C>T	3.37:g.125824715G>A	ENSP00000377083:p.Ser836Phe		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.S836F	ENST00000393434.2	37	c.2507	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506754	0.85282	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	4.39	4.39	0.52855	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90191	0.6934	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.92534	0.6036	10	0.87932	D	0	.	14.4773	0.67554	0.0:0.0:1.0:0.0	.	735;371;836	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	F	846;836;735;836	ENSP00000273450:S846F;ENSP00000420293:S836F;ENSP00000395881:S735F;ENSP00000377083:S836F	ENSP00000273450:S846F	S	-	2	0	ALDH1L1	127307405	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.304000	0.96190	2.259000	0.74868	0.491000	0.48974	TCT	ALDH1L1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000144908		0.567	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1		0	34	0	G	NM_012190		125824715	-1			no_errors	ENST00000393434	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	A	A	125824715	G	A	125824715	3	1	99	1	0	0	0	0	1	0	0	0	494	942	33	3	209	3	ALDH1L1	3	125824715	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	1650691	125824715	72197715	43	28160											
CCDC37	348807	genome.wustl.edu	37	chr3	126137616	126137616	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgtgcaggccatgagaGcgtgagcctgcgggcccgag	6	5	17	13	4	0	2	0	2	0	1	1	4	1	2	4	2	4	2	4	2	0	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:126137616G>T	ENST00000352312.1	+	7	748	c.649G>T	c.(649-651)Gcg>Tcg	p.A217S	CCDC37_ENST00000393425.1_Splice_Site_p.A218S|CCDC37_ENST00000505024.1_Splice_Site_p.A218S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	217										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCCATGAGAGCGTGAGCCTG	0.667																																																	0																																										SO:0001630	splice_region_variant	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.650+1G>T	3.37:g.126137616G>T			D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C	p.A218S	ENST00000352312.1	37	c.652	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	7.218	0.596881	0.13875	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.16743	2.32;2.32;2.32	5.09	-7.49	0.01355	.	1.763500	0.02520	N	0.092454	T	0.12135	0.0295	L	0.42245	1.32	0.09310	N	1	B;B	0.20164	0.034;0.042	B;B	0.18871	0.014;0.023	T	0.27606	-1.0069	10	0.09338	T	0.73	-0.0075	8.7281	0.34483	0.3968:0.4653:0.138:0.0	.	218;217	Q494V2-2;Q494V2	.;CCD37_HUMAN	S	217;218;218	ENSP00000344749:A217S;ENSP00000377076:A218S;ENSP00000423046:A218S	ENSP00000344749:A217S	A	+	1	0	CCDC37	127620306	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.043000	0.12043	-1.433000	0.01977	-0.339000	0.08088	GCG	CCDC37	-	NULL	ENSG00000163885		0.667	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	-	0	44	0	G	NM_182628	Missense_Mutation	126137616	1	tier1	-	no_errors	ENST00000393425	ensembl	human	known	74_37	missense	14.08	61	10	SNP	0.000	T	T	126137616	G	T	126137616	5	4	99	1	0	0	0	0	0	0	1	0	2816	985	34	3	671	3	CCDC37	3	126137616	Splice_Site	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	312901	126137616	71884814	44	28161											
GRK7	131890	genome.wustl.edu	37	chr3	141499459	141499459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctacaacgtgggcacgCgtggcctggacatgagccgg	9	6	14	12	4	1	1	0	1	1	0	1	2	1	2	2	4	3	1	2	4	2	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:141499459C>T	ENST00000264952.2	+	2	993	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	286	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGTGGGCACGCGTGGCCTGGA	0.562																																																	0													106	100	102					3																	141499459		2203	4300	6503	SO:0001583	missense	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.856C>T	3.37:g.141499459C>T	ENSP00000264952:p.Arg286Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.R286C	ENST00000264952.2	37	c.856	CCDS3120.1	3	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717102	0.30413	.	.	ENSG00000114124	ENST00000264952	T	0.66815	-0.23	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120019	0.56097	D	0.000030	T	0.71685	0.3369	L	0.48260	1.515	0.19300	N	0.999973	D	0.76494	0.999	P	0.59643	0.861	T	0.65063	-0.6259	10	0.72032	D	0.01	-6.1678	11.3174	0.49401	0.3174:0.6826:0.0:0.0	.	286	Q8WTQ7	GRK7_HUMAN	C	286	ENSP00000264952:R286C	ENSP00000264952:R286C	R	+	1	0	GRK7	142982149	0.190000	0.23276	0.354000	0.25760	0.070000	0.16714	0.807000	0.27140	2.197000	0.70478	0.655000	0.94253	CGT	GRK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000114124		0.562	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	-	0	26	0	C	NM_139209		141499459	1	tier1	-	no_errors	ENST00000264952	ensembl	human	known	74_37	missense	20.27	59	15	SNP	0.033	T	T	141499459	C	T	141499459	3	4	99	1	0	0	0	0	1	0	0	0	6821	768	27	1	862	1	GRK7	3	141499459	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	15361843	141499459	56522971	45	28162											
XRN1	54464	genome.wustl.edu	37	chr3	142131431	142131431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcttcccattcctgttgTttcccatttaggtcagtttt	6	18	6	11	0	1	0	1	0	0	0	4	0	4	0	3	1	1	4	3	1	1	8			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:142131431T>A	ENST00000264951.4	-	15	1785	c.1668A>T	c.(1666-1668)aaA>aaT	p.K556N	XRN1_ENST00000392981.2_Missense_Mutation_p.K556N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	556					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATTCCTGTTGTTTCCCATTTA	0.323																																																	0													120	113	115					3																	142131431		2203	4299	6502	SO:0001583	missense	0			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1668A>T	3.37:g.142131431T>A	ENSP00000264951:p.Lys556Asn		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.K556N	ENST00000264951.4	37	c.1668	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	T	21.0	4.082573	0.76528	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.74632	-0.86;-0.86	5.84	2.21	0.28008	.	0.000000	0.85682	D	0.000000	D	0.85517	0.5715	M	0.88105	2.93	0.80722	D	1	D;D;D	0.76494	0.985;0.999;0.999	D;D;D	0.75484	0.949;0.978;0.986	D	0.84606	0.0675	10	0.66056	D	0.02	-23.309	8.6187	0.33849	0.0:0.3547:0.0:0.6453	.	417;556;556	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	N	556	ENSP00000264951:K556N;ENSP00000376707:K556N	ENSP00000264951:K556N	K	-	3	2	XRN1	143614121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.853000	0.27777	0.471000	0.27319	0.482000	0.46254	AAA	XRN1	-	pirsf_5_3_exoribonuclease_1	ENSG00000114127		0.323	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	-	0	59	0	T	NM_019001		142131431	-1	tier1	-	no_errors	ENST00000264951	ensembl	human	known	74_37	missense	15.33	127	23	SNP	1.000	A	A	142131431	T	A	142131431	3	1	99	1	0	0	0	0	1	0	0	0	17508	1722	60	5	3564	5	XRN1	3	142131431	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	631972	142131431	55890999	46	28163											
SI	6476	genome.wustl.edu	37	chr3	164783167	164783167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcacttggaagacgggttGagatctgtaagtactggtca	12	11	12	6	1	3	2	2	1	1	2	3	4	3	3	0	3	1	3	0	3	4	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:164783167G>A	ENST00000264382.3	-	7	751	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	230	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAGACGGGTTGAGATCTGTAA	0.338										HNSCC(35;0.089)																																							0													59	58	58					3																	164783167		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.689C>T	3.37:g.164783167G>A	ENSP00000264382:p.Ser230Leu		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.S230L	ENST00000264382.3	37	c.689	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567002	0.86439	.	.	ENSG00000090402	ENST00000264382	D	0.88201	-2.35	5.9	5.9	0.94986	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98061	1.0393	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	230	P14410	SUIS_HUMAN	L	230	ENSP00000264382:S230L	ENSP00000264382:S230L	S	-	2	0	SI	166265861	1.000000	0.71417	0.985000	0.45067	0.456000	0.32438	9.289000	0.96061	2.788000	0.95919	0.650000	0.86243	TCA	SI	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000090402		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	27	0	G	NM_001041		164783167	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	17.07	68	14	SNP	1.000	A	A	164783167	G	A	164783167	3	1	99	1	0	0	0	0	1	0	0	0	14342	1294	45	3	4962	3	SI	3	164783167	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	22651736	164783167	33239263	47	28164											
KLHL6	89857	genome.wustl.edu	37	chr3	183273193	183273193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccacgcggtggcaggaGaattcctgaatgtccacaca	12	6	11	12	2	0	2	0	1	0	1	2	3	2	2	3	3	1	2	3	3	2	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:183273193G>T	ENST00000341319.3	-	1	284	c.249C>A	c.(247-249)ttC>ttA	p.F83L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGTGGCAGGAGAATTCCTGAA	0.522																																																	0													112	102	105					3																	183273193		2203	4300	6503	SO:0001583	missense	0			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"Kelch-like", "BTB/POZ domain containing"	18653	protein-coding gene	gene with protein product	"kelch-like protein KLHL6"	614214	"kelch-like 6 (Drosophila)"			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.249C>A	3.37:g.183273193G>T	ENSP00000341342:p.Phe83Leu		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F83L	ENST00000341319.3	37	c.249	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815562	0.90790	.	.	ENSG00000172578	ENST00000341319	T	0.69175	-0.38	5.56	5.56	0.83823	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.73372	2.23	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.79940	-0.1591	10	0.48119	T	0.1	.	13.7732	0.63038	0.0733:0.0:0.9267:0.0	.	83	Q8WZ60	KLHL6_HUMAN	L	83	ENSP00000341342:F83L	ENSP00000341342:F83L	F	-	3	2	KLHL6	184755887	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.321000	0.51999	2.608000	0.88229	0.655000	0.94253	TTC	KLHL6	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000172578		0.522	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	-	0	24	0	G	NM_130446		183273193	-1	tier1	-	no_errors	ENST00000341319	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	T	T	183273193	G	T	183273193	3	4	99	1	0	0	0	0	1	0	0	0	8420	933	33	3	1644	3	KLHL6	3	183273193	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	18490026	183273193	14749237	48	28165											
LPP	4026	genome.wustl.edu	37	chr3	188242454	188242454	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgtgttgcttccaacaggGgaatcccggaggcaagacac	10	8	12	11	1	1	1	0	0	1	1	3	3	3	3	2	4	2	3	2	4	3	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr3:188242454G>T	ENST00000312675.4	+	5	554	c.308G>T	c.(307-309)gGg>gTg	p.G103V	LPP_ENST00000543006.1_Splice_Site_p.G103V|LPP_ENST00000448637.1_Splice_Site_p.G103V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	103	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTCCAACAGGGGAATCCCGGA	0.468			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"																																			Dom	yes		3	3q28	4026	LIM domain containing preferred translocation partner in lipoma		"L, M"	0													91	92	91					3																	188242454		2203	4300	6503	SO:0001630	splice_region_variant	0			AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"LIM domain-containing preferred translocation partner in lipoma"			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.307-1G>T	3.37:g.188242454G>T			A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G103V	ENST00000312675.4	37	c.308	CCDS3291.1	3	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.564792	0.00903	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000420410;ENST00000312675;ENST00000543006	T;T;T;T	0.55413	1.92;0.96;0.52;0.52	5.62	1.22	0.21188	.	1.229440	0.05476	N	0.554007	T	0.30665	0.0772	N	0.13235	0.315	0.50039	D	0.999847	B;B;B	0.22080	0.064;0.005;0.001	B;B;B	0.12837	0.008;0.007;0.001	T	0.31613	-0.9937	10	0.16420	T	0.52	.	3.2615	0.06850	0.0885:0.123:0.3424:0.4462	.	103;103;103	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	V	103	ENSP00000393602:G103V;ENSP00000410340:G103V;ENSP00000318089:G103V;ENSP00000438891:G103V	ENSP00000318089:G103V	G	+	2	0	LPP	189725148	1.000000	0.71417	0.989000	0.46669	0.103000	0.19146	3.012000	0.49575	0.293000	0.22520	0.655000	0.94253	GGG	LPP	-	NULL	ENSG00000145012		0.468	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPP	HGNC	protein_coding	OTTHUMT00000344030.1		0	42	0	G	NM_005578	Missense_Mutation	188242454	1			no_errors	ENST00000312675	ensembl	human	known	74_37	missense	7.32	38	3	SNP	0.992	T	T	188242454	G	T	188242454	5	4	99	1	0	0	0	0	0	0	1	0	8958	1246	43	3	318	3	LPP	3	188242454	Splice_Site	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	4969261	188242454	9779976	49	28166											
TMEM129	92305	genome.wustl.edu	37	chr4	1720170	1720171	+	Frame_Shift_Ins	INS	-	-	G																															agactgtgggagggcgtagaINSgggccagggtgcgcgccagt																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:1720170_1720171insG	ENST00000382936.3	-	2	881_882	c.388_389insC	c.(388-390)ctcfs	p.L130fs	TMEM129_ENST00000536901.1_Frame_Shift_Ins_p.L130fs|TMEM129_ENST00000303277.2_Frame_Shift_Ins_p.L130fs	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	130					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GAGGGCGTAGAGGGCCAGGGTG	0.658																																																	0																																										SO:0001589	frameshift_variant	0			BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"transmembrane protein 129"			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.389dupC	4.37:g.1720173_1720173dupG	ENSP00000372394:p.Leu130fs		A6NH49|A6NI98|D3DVP8	Frame_Shift_Ins	INS	pfam_Tmpp129	p.L130fs	ENST00000382936.3	37	c.389_388	CCDS46998.1	4																																																																																			TMEM129	-	pfam_Tmpp129	ENSG00000168936		0.658	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM129	HGNC	protein_coding	OTTHUMT00000350724.1		0	24	0	-	NM_138385		1720171	-1	tier1		no_errors	ENST00000382936	ensembl	human	known	74_37	frame_shift_ins	26.92	19	7	INS	0.009:0.016	G	G	1720171	-	G	1720170	7	5	99	1	0	1	1	0	0	0	0	0	16089	304	11	0	711	0	TMEM129	4	1720170	Frame_Shift_Ins	INS	-	TCGA-LN-A49L-01A-11D-A247-09		1720170	189434106	50	28167											
BOD1L	259282	genome.wustl.edu	37	chr4	13601756	13601756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttccaccgagctcgtagaGatgatgccactcccgtcttt	7	12	8	14	3	2	2	0	1	2	1	5	4	4	2	4	0	2	2	4	0	1	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:13601756G>C	ENST00000040738.5	-	10	6903	c.6768C>G	c.(6766-6768)atC>atG	p.I2256M		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2256						nucleus (GO:0005634)	DNA binding (GO:0003677)										AGCTCGTAGAGATGATGCCAC	0.532																																																	0													87	75	79					4																	13601756		2203	4300	6503	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.6768C>G	4.37:g.13601756G>C	ENSP00000040738:p.Ile2256Met		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.I2256M	ENST00000040738.5	37	c.6768	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117482	0.56505	.	.	ENSG00000038219	ENST00000040738	T	0.16897	2.31	5.46	4.62	0.57501	.	0.000000	0.52532	D	0.000067	T	0.34774	0.0909	M	0.62723	1.935	0.34483	D	0.704062	D	0.89917	1.0	D	0.70716	0.97	T	0.49818	-0.8899	10	0.52906	T	0.07	-5.1173	9.441	0.38668	0.0743:0.0:0.7835:0.1422	.	2256	Q8NFC6	BOD1L_HUMAN	M	2256	ENSP00000040738:I2256M	ENSP00000040738:I2256M	I	-	3	3	BOD1L	13210854	1.000000	0.71417	0.994000	0.49952	0.726000	0.41606	2.049000	0.41288	1.303000	0.44873	0.650000	0.86243	ATC	BOD1L1	-	NULL	ENSG00000038219		0.532	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	-	0	40	0	G	NM_148894		13601756	-1	tier1	-	no_errors	ENST00000040738	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	C	C	13601756	G	C	13601756	3	2	99	1	0	0	0	0	1	0	0	0	1485	932	33	5	2455	5	BOD1L	4	13601756	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	11881586	13601756	177552520	51	28168											
PROM1	8842	genome.wustl.edu	37	chr4	16010698	16010698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagttacattgtcgataTctgaaccaatggaattcaag	13	12	9	7	1	2	2	1	2	1	0	3	4	2	3	1	1	2	2	1	1	6	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:16010698T>C	ENST00000510224.1	-	12	1423	c.1175A>G	c.(1174-1176)gAt>gGt	p.D392G	PROM1_ENST00000540805.1_Missense_Mutation_p.D392G|RNU6-350P_ENST00000515949.1_RNA|PROM1_ENST00000505450.1_Missense_Mutation_p.D383G|PROM1_ENST00000539194.1_Missense_Mutation_p.D392G|PROM1_ENST00000508167.1_Missense_Mutation_p.D383G|PROM1_ENST00000543373.1_Missense_Mutation_p.D383G|PROM1_ENST00000447510.2_Missense_Mutation_p.D392G			O43490	PROM1_HUMAN	prominin 1	392					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATTGTCGATATCTGAACCAAT	0.348																																																	0													82	76	78					4																	16010698		1859	4094	5953	SO:0001583	missense	0			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"CD molecules"	9454	protein-coding gene	gene with protein product		604365	"prominin (mouse)-like 1", "macular dystrophy, retinal 2", "Stargardt disease 4 (autosomal dominant)"	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1175A>G	4.37:g.16010698T>C	ENSP00000426809:p.Asp392Gly		Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Missense_Mutation	SNP	pfam_Prominin	p.D392G	ENST00000510224.1	37	c.1175	CCDS47029.1	4	.	.	.	.	.	.	.	.	.	.	T	12.81	2.050603	0.36181	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.52	0.346	0.16017	.	1.165200	0.06030	N	0.652957	T	0.75206	0.3818	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P	0.51933	0.73;0.73;0.73;0.73;0.792;0.949	B;B;B;B;B;P	0.53722	0.406;0.406;0.312;0.406;0.194;0.733	T	0.62020	-0.6942	10	0.24483	T	0.36	-11.5056	8.2098	0.31478	0.0:0.3191:0.0:0.6809	.	383;392;383;392;383;392	O43490-5;O43490-6;O43490-4;O43490-7;O43490-2;O43490	.;.;.;.;.;PROM1_HUMAN	G	392;392;392;383;383;392;383	ENSP00000415481:D392G;ENSP00000438045:D392G;ENSP00000443620:D392G;ENSP00000426090:D383G;ENSP00000427346:D383G;ENSP00000426809:D392G;ENSP00000445526:D383G	ENSP00000415481:D392G	D	-	2	0	PROM1	15619796	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.442000	0.21628	-0.139000	0.11414	-0.290000	0.09829	GAT	PROM1	-	pfam_Prominin	ENSG00000007062		0.348	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	-	0	30	0	T	NM_006017		16010698	-1	tier1	-	no_errors	ENST00000447510	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.000	C	C	16010698	T	C	16010698	3	2	99	1	0	0	0	0	1	0	0	0	12597	1435	50	4	1486	4	PROM1	4	16010698	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	2408942	16010698	175143578	52	28169											
ATP10D	57205	genome.wustl.edu	37	chr4	47589054	47589054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacttggattcacttgctgGtcatcattggtagcatcttg	8	15	10	8	0	4	1	3	0	1	1	4	2	4	2	0	3	2	3	0	3	1	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:47589054G>T	ENST00000273859.3	+	22	4041	c.3772G>T	c.(3772-3774)Gtc>Ttc	p.V1258F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1258					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCACTTGCTGGTCATCATTGG	0.418																																																	0													246	207	220					4																	47589054		2203	4300	6503	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"ATPases / P-type"	13549	protein-coding gene	gene with protein product			"ATPase, Class V, type 10D"			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3772G>T	4.37:g.47589054G>T	ENSP00000273859:p.Val1258Phe		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V1258F	ENST00000273859.3	37	c.3772	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	8.148	0.786721	0.16189	.	.	ENSG00000145246	ENST00000273859	D	0.86230	-2.09	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	L	0.28400	0.85	0.80722	D	1	B	0.15930	0.015	B	0.20767	0.031	T	0.76069	-0.3094	10	0.33940	T	0.23	-13.1112	17.7053	0.88308	0.0:0.0:1.0:0.0	.	1258	Q9P241	AT10D_HUMAN	F	1258	ENSP00000273859:V1258F	ENSP00000273859:V1258F	V	+	1	0	ATP10D	47283811	0.943000	0.32029	1.000000	0.80357	0.202000	0.24057	1.621000	0.36986	2.665000	0.90641	0.655000	0.94253	GTC	ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000145246		0.418	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	-	0	66	0	G	NM_020453		47589054	1	tier1	-	no_errors	ENST00000273859	ensembl	human	known	74_37	missense	36.43	82	47	SNP	1.000	T	T	47589054	G	T	47589054	3	4	99	1	0	0	0	0	1	0	0	0	1119	1261	44	3	3854	3	ATP10D	4	47589054	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	31578356	47589054	143565222	53	28170											
KIT	3815	genome.wustl.edu	37	chr4	55593704	55593704	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcccagaaacaggctgagTtttggtcagtatgaaacagg	12	11	11	7	0	1	3	1	2	0	1	2	3	2	3	1	3	2	3	1	3	3	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:55593704T>G	ENST00000288135.5	+	11	1867	c.1770T>G	c.(1768-1770)agT>agG	p.S590R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACAGGCTGAGTTTTGGTCAGT	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0													65	63	64					4																	55593704		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1770T>G	4.37:g.55593704T>G	ENSP00000288135:p.Ser590Arg		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S590R	ENST00000288135.5	37	c.1770	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	T	8.678	0.904442	0.17760	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82711	-1.64;-1.64	6.06	3.65	0.41850	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74215	0.3687	N	0.10685	0.025	0.80722	D	1	B;B;D	0.58268	0.002;0.061;0.982	B;B;P	0.60541	0.006;0.019;0.876	T	0.68443	-0.5407	10	0.07175	T	0.84	.	8.5686	0.33556	0.0:0.2059:0.0:0.7941	.	97;586;590	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	R	590;586	ENSP00000288135:S590R;ENSP00000390987:S586R	ENSP00000288135:S590R	S	+	3	2	KIT	55288461	0.998000	0.40836	1.000000	0.80357	0.905000	0.53344	0.343000	0.19944	0.541000	0.28827	0.533000	0.62120	AGT	KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000157404		0.413	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0	30	0	T			55593704	1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	missense	36.96	29	17	SNP	1.000	G	G	55593704	T	G	55593704	3	3	99	1	0	0	0	0	1	0	0	0	8356	1722	60	4	1812	4	KIT	4	55593704	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	8004650	55593704	135560572	54	28171											
PRKG2	5593	genome.wustl.edu	37	chr4	82027067	82027067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaattgtaggtcatcatttGgtcaaccccagaaaagggtg	13	10	10	8	0	3	1	3	0	0	1	3	1	3	1	2	3	1	1	2	3	5	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:82027067G>T	ENST00000395578.1	-	16	2079	c.1963C>A	c.(1963-1965)Caa>Aaa	p.Q655K	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.Q235K|PRKG2_ENST00000418486.2_Missense_Mutation_p.Q626K|PRKG2_ENST00000264399.1_Missense_Mutation_p.Q655K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	655	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTCATCATTTGGTCAACCCCA	0.403																																																	0													96	95	95					4																	82027067		2203	4300	6503	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1963C>A	4.37:g.82027067G>T	ENSP00000378945:p.Gln655Lys		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.Q655K	ENST00000395578.1	37	c.1963	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	g	20.4	3.989492	0.74589	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052041	0.85682	D	0.000000	T	0.69052	0.3068	L	0.42744	1.35	0.80722	D	1	B;B	0.29571	0.022;0.249	B;P	0.45538	0.074;0.484	T	0.70063	-0.4975	10	0.72032	D	0.01	-16.7794	18.7774	0.91916	0.0:0.0:1.0:0.0	.	626;655	E7EPE6;Q13237	.;KGP2_HUMAN	K	655;655;626;235	ENSP00000378945:Q655K;ENSP00000264399:Q655K;ENSP00000389038:Q626K;ENSP00000439967:Q235K	ENSP00000264399:Q655K	Q	-	1	0	PRKG2	82246091	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.595000	0.98260	2.553000	0.86117	0.491000	0.48974	CAA	PRKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom	ENSG00000138669		0.403	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0	38	0	G	NM_006259		82027067	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	T	T	82027067	G	T	82027067	3	4	99	1	0	0	0	0	1	0	0	0	12565	1357	47	3	341	3	PRKG2	4	82027067	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	26433363	82027067	109127209	55	28172											
WDFY3	23001	genome.wustl.edu	37	chr4	85711028	85711028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagcatgggagaatttCataaaatgaggactcttcac	15	9	9	8	0	3	2	2	1	1	1	3	4	3	3	0	2	2	2	0	2	3	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:85711028C>A	ENST00000295888.4	-	22	3927	c.3520G>T	c.(3520-3522)Gaa>Taa	p.E1174*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.E1174*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1174					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGGAGAATTTCATAAAATGAG	0.383																																																	0													89	88	88					4																	85711028		2203	4300	6503	SO:0001587	stop_gained	0			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3520G>T	4.37:g.85711028C>A	ENSP00000295888:p.Glu1174*		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E1174*	ENST00000295888.4	37	c.3520	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.419801	0.99666	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	18.3293	0.90263	0.0:1.0:0.0:0.0	.	.	.	.	X	1174	.	ENSP00000295888:E1174X	E	-	1	0	WDFY3	85930052	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.442000	0.80503	2.365000	0.80145	0.561000	0.74099	GAA	WDFY3	-	superfamily_ConA-like_lec_gl_sf	ENSG00000163625		0.383	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	-	0	22	0	C	NM_014991		85711028	-1	tier1	-	no_errors	ENST00000295888	ensembl	human	known	74_37	nonsense	20.00	16	4	SNP	1.000	A	A	85711028	C	A	85711028	4	1	99	1	0	0	0	0	0	1	0	0	17319	835	29	3	7248	3	WDFY3	4	85711028	Nonsense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	3683961	85711028	105443248	56	28173											
ANK2	287	genome.wustl.edu	37	chr4	114279791	114279791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgaggaaaataaggcGgatgaagcaaaaccaaagtc	19	5	12	5	1	0	3	0	2	0	1	1	5	0	5	1	3	2	2	1	3	8	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:114279791G>A	ENST00000357077.4	+	38	10070	c.10017G>A	c.(10015-10017)gcG>gcA	p.A3339A	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.A3306A|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3339					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A3339A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAAATAAGGCGGATGAAGCAA	0.468																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											122	124	123					4																	114279791		2203	4300	6503	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10017G>A	4.37:g.114279791G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.A3339	ENST00000357077.4	37	c.10017	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.468	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	21	0	G	NM_001148		114279791	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.380	A	A	114279791	G	A	114279791	2	1	99	1	0	0	0	0	0	0	0	1	621	1103	39	1		1	ANK2	4	114279791	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	28568763	114279791	76874485	57	28174											
TMEM155	132332	genome.wustl.edu	37	chr4	122681585	122681585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgttttctctgtgggCttcctccttcttcttgtggg	0	18	10	13	1	3	0	0	0	3	0	6	0	5	0	4	2	1	2	4	2	0	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:122681585C>A	ENST00000337677.5	-	6	815	c.257G>T	c.(256-258)aGc>aTc	p.S86I	TMEM155_ENST00000394396.1_Missense_Mutation_p.S86I|TMEM155_ENST00000394394.1_Missense_Mutation_p.S86I	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	86						extracellular region (GO:0005576)				breast(1)|lung(5)	6						tctctgtgggcttcctccttc	0.512																																																	0													60	56	57					4																	122681585		2176	4233	6409	SO:0001583	missense	0			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.257G>T	4.37:g.122681585C>A	ENSP00000336987:p.Ser86Ile		D3DNW9|Q96NI2	Missense_Mutation	SNP	NULL	p.S86I	ENST00000337677.5	37	c.257	CCDS3721.1	4	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619482	0.28801	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394	T;T;T	0.55052	0.54;0.54;0.54	4.2	-1.81	0.07882	.	1.176890	0.06262	N	0.694080	T	0.44117	0.1278	N	0.19112	0.55	0.09310	N	1	P	0.47677	0.899	P	0.50896	0.653	T	0.40459	-0.9562	10	0.87932	D	0	1.7054	5.0979	0.14742	0.0:0.394:0.1494:0.4566	.	86	Q4W5P6	TM155_HUMAN	I	86	ENSP00000377919:S86I;ENSP00000336987:S86I;ENSP00000377917:S86I	ENSP00000336987:S86I	S	-	2	0	TMEM155	122901035	0.001000	0.12720	0.001000	0.08648	0.141000	0.21300	-0.046000	0.11983	-0.450000	0.07107	-0.145000	0.13849	AGC	TMEM155	-	NULL	ENSG00000164112		0.512	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM155	HGNC	protein_coding	OTTHUMT00000256637.2	-	0	29	0	C	NM_152399		122681585	-1	tier1	-	no_errors	ENST00000337677	ensembl	human	known	74_37	missense	27.08	35	13	SNP	0.002	A	A	122681585	C	A	122681585	3	1	99	1	0	0	0	0	1	0	0	0	16119	797	28	3	139	3	TMEM155	4	122681585	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	8401794	122681585	68472691	58	28175											
PCDH10	57575	genome.wustl.edu	37	chr4	134073552	134073552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaacatctatacttgtctgGccagcgattgctgcctctgc	7	13	8	13	1	4	0	1	0	3	0	4	1	4	0	2	1	6	1	2	1	3	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:134073552G>A	ENST00000264360.5	+	1	3083	c.2257G>A	c.(2257-2259)Gcc>Acc	p.A753T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	753	Cys-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TACTTGTCTGGCCAGCGATTG	0.592																																																	0													56	61	59					4																	134073552		2203	4300	6503	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2257G>A	4.37:g.134073552G>A	ENSP00000264360:p.Ala753Thr		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A753T	ENST00000264360.5	37	c.2257	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	G	13.49	2.254145	0.39896	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52754	0.65	4.48	4.48	0.54585	.	0.162599	0.29053	N	0.013298	T	0.35828	0.0945	L	0.34521	1.04	0.44852	D	0.997869	B;B	0.23540	0.087;0.017	B;B	0.17433	0.018;0.007	T	0.16305	-1.0407	10	0.10377	T	0.69	.	16.9557	0.86258	0.0:0.0:1.0:0.0	.	753;753	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	753	ENSP00000264360:A753T	ENSP00000264360:A753T	A	+	1	0	PCDH10	134293002	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.994000	0.49433	2.322000	0.78497	0.561000	0.74099	GCC	PCDH10	-	NULL	ENSG00000138650		0.592	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	28	0	G	NM_032961		134073552	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A	A	134073552	G	A	134073552	3	1	99	1	0	0	0	0	1	0	0	0	11546	1203	42	3	2259	3	PCDH10	4	134073552	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	11391967	134073552	57080724	59	28176											
NEK1	4750	genome.wustl.edu	37	chr4	170520292	170520292	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttctgagcatttattcGcttaaacagatcccctccct	8	14	5	14	1	1	2	0	1	1	1	4	2	3	2	4	0	2	2	4	0	3	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:170520292G>A	ENST00000439128.2	-	4	911	c.271C>T	c.(271-273)Cga>Tga	p.R91*	NEK1_ENST00000510533.1_Nonsense_Mutation_p.R91*|NEK1_ENST00000511633.1_Nonsense_Mutation_p.R91*|NEK1_ENST00000512193.1_Nonsense_Mutation_p.R91*|NEK1_ENST00000507142.1_Nonsense_Mutation_p.R91*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	91	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GCATTTATTCGCTTAAACAGA	0.338																																																	0													94	90	91					4																	170520292		1826	4095	5921	SO:0001587	stop_gained	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.271C>T	4.37:g.170520292G>A	ENSP00000408020:p.Arg91*		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R91*	ENST00000439128.2	37	c.271	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	G	44	11.124862	0.99519	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	.	.	.	5.91	1.95	0.26073	.	0.124697	0.34802	N	0.003668	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5073	0.44841	0.0:0.1036:0.3025:0.5938	.	.	.	.	X	91	.	ENSP00000408020:R91X	R	-	1	2	NEK1	170756867	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.502000	0.53332	0.367000	0.24454	0.650000	0.86243	CGA	NEK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000137601		0.338	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	-	0	20	0	G			170520292	-1	tier1	-	no_errors	ENST00000507142	ensembl	human	known	74_37	nonsense	25.71	26	9	SNP	1.000	A	A	170520292	G	A	170520292	4	1	99	1	0	0	0	0	0	1	0	0	10360	1095	38	1	3629	1	NEK1	4	170520292	Nonsense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	36446740	170520292	20633984	60	28177											
ADAM29	11086	genome.wustl.edu	37	chr4	175898320	175898320	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtgtaatatctcagaTgtccagtgtggaagaattca	15	12	9	5	0	2	2	2	0	1	2	4	3	3	3	1	1	0	1	1	1	6	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr4:175898320T>A	ENST00000359240.3	+	5	2314	c.1644T>A	c.(1642-1644)gaT>gaA	p.D548E	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.D548E|ADAM29_ENST00000445694.1_Missense_Mutation_p.D548E|ADAM29_ENST00000514159.1_Missense_Mutation_p.D548E	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	548	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ATATCTCAGATGTCCAGTGTG	0.398																																					Ovarian(140;1727 1835 21805 25838 41440)												0													114	115	115					4																	175898320		2203	4300	6503	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"ADAM metallopeptidase domain containing"	207	protein-coding gene	gene with protein product	"cancer/testis antigen 73"	604778	"a disintegrin and metalloproteinase domain 29"			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1644T>A	4.37:g.175898320T>A	ENSP00000352177:p.Asp548Glu		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D548E	ENST00000359240.3	37	c.1644	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812125	0.50527	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	3.48	-2.01	0.07410	ADAM, cysteine-rich (2);	0.216103	0.22414	U	0.060369	T	0.64962	0.2646	H	0.98769	4.325	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56860	-0.7909	9	.	.	.	.	7.8111	0.29232	0.0:0.5545:0.0:0.4455	.	548	Q9UKF5	ADA29_HUMAN	E	548	ENSP00000352177:D548E;ENSP00000414544:D548E;ENSP00000384229:D548E;ENSP00000423517:D548E	.	D	+	3	2	ADAM29	176134895	0.015000	0.18098	0.000000	0.03702	0.093000	0.18481	0.036000	0.13819	-0.351000	0.08249	-0.269000	0.10298	GAT	ADAM29	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000168594		0.398	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		-	0	28	0	T			175898320	1	tier1	-	no_errors	ENST00000359240	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.001	A	A	175898320	T	A	175898320	3	1	99	1	0	0	0	0	1	0	0	0	247	1461	51	5	1646	5	ADAM29	4	175898320	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	5378028	175898320	15255956	61	28178											
AHRR	57491	genome.wustl.edu	37	chr5	432961	432961	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcgttttggtgctcagggaAcagactgacgctggccgatg	7	9	16	9	3	1	2	1	1	0	1	1	4	1	3	1	4	2	3	1	4	1	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr5:432961A>G	ENST00000505113.1	+	10	1067	c.1023A>G	c.(1021-1023)gaA>gaG	p.E341E	AHRR_ENST00000506456.1_Silent_p.E197E|AHRR_ENST00000512529.1_Silent_p.E187E|AHRR_ENST00000316418.5_Silent_p.E359E	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	341					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGCTCAGGGAACAGACTGACG	0.657																																																	0													39	45	43					5																	432961		2015	4171	6186	SO:0001819	synonymous_variant	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"Basic helix-loop-helix proteins"	346	protein-coding gene	gene with protein product		606517	"aryl hydrocarbon receptor regulator"	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1023A>G	5.37:g.432961A>G			A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Silent	SNP	pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom	p.E359	ENST00000505113.1	37	c.1077	CCDS56355.1	5																																																																																			AHRR	-	NULL	ENSG00000063438		0.657	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	-	0	34	0	A	NM_020731		432961	1	tier1	-	no_errors	ENST00000316418	ensembl	human	known	74_37	silent	36.84	12	7	SNP	0.000	G	G	432961	A	G	432961	2	3	99	1	0	0	0	0	0	0	0	1	417	40	2	4		4	AHRR	5	432961	Silent	SNP	A	TCGA-LN-A49L-01A-11D-A247-09		432961	180482299	62	28179											
SPEF2	79925	genome.wustl.edu	37	chr5	35618123	35618123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggagatcctgtgccagtgGctcaacaaggagttgaaggt	10	9	14	8	1	1	2	1	1	0	1	3	4	2	3	2	4	2	2	2	4	3	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr5:35618123G>T	ENST00000356031.3	+	1	178	c.24G>T	c.(22-24)tgG>tgT	p.W8C	SPEF2_ENST00000282469.6_Missense_Mutation_p.W8C|SPEF2_ENST00000509059.1_Missense_Mutation_p.W8C|SPEF2_ENST00000440995.2_Missense_Mutation_p.W8C	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	8	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGCCAGTGGCTCAACAAGG	0.672											OREG0016560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55	44	48					5																	35618123		2202	4299	6501	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"cancer/testis antigen 122"	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.24G>T	5.37:g.35618123G>T	ENSP00000348314:p.Trp8Cys	856	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.W8C	ENST00000356031.3	37	c.24	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248418	0.80024	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	6.01	6.01	0.97437	Calponin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.81112	2.525	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.69479	0.964;0.964;0.912	T	0.81527	-0.0892	10	0.87932	D	0	.	16.0162	0.80441	0.0:0.0:1.0:0.0	.	8;8;8	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	C	8	ENSP00000282469:W8C;ENSP00000348314:W8C;ENSP00000421593:W8C;ENSP00000426259:W8C;ENSP00000412125:W8C	ENSP00000282469:W8C	W	+	3	0	SPEF2	35653880	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.952000	0.63618	2.852000	0.98041	0.643000	0.83706	TGG	SPEF2	-	pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain	ENSG00000152582		0.672	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0	31	0	G	NM_144722		35618123	1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	35618123	G	T	35618123	3	4	99	1	0	0	0	0	1	0	0	0	15082	1212	42	3	26	3	SPEF2	5	35618123	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	35185162	35618123	145297137	63	28180											
MCC	4163	genome.wustl.edu	37	chr5	112420928	112420928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctggggttaatcgggCggttggtggaagtgaggcgg	6	9	21	5	3	0	1	0	1	0	0	1	2	0	2	0	8	1	3	0	8	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr5:112420928C>T	ENST00000302475.4	-	7	1471	c.908G>A	c.(907-909)cGc>cAc	p.R303H	MCC_ENST00000515367.2_Missense_Mutation_p.R240H|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.R493H	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	303					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTAATCGGGCGGTTGGTGGA	0.577																																																	0													168	165	166					5																	112420928		2202	4300	6502	SO:0001583	missense	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"EF-hand domain containing"	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.908G>A	5.37:g.112420928C>T	ENSP00000305617:p.Arg303His		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.R303H	ENST00000302475.4	37	c.908	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.397906	0.96030	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.37235	2.37;2.37;1.21	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.77004	0.964;0.964;0.989;0.964	T	0.50432	-0.8829	10	0.52906	T	0.07	-25.3763	19.8927	0.96935	0.0:1.0:0.0:0.0	.	303;265;493;303	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	H	303;240;493	ENSP00000305617:R303H;ENSP00000421615:R240H;ENSP00000386227:R493H	ENSP00000305617:R303H	R	-	2	0	MCC	112448827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.013000	0.70776	2.711000	0.92665	0.655000	0.94253	CGC	MCC	-	NULL	ENSG00000171444		0.577	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	-	0	50	0	C	NM_001085377		112420928	-1	tier1	-	no_errors	ENST00000302475	ensembl	human	known	74_37	missense	11.43	62	8	SNP	1.000	T	T	112420928	C	T	112420928	3	4	99	1	0	0	0	0	1	0	0	0	9411	768	27	1	1625	1	MCC	5	112420928	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	76802805	112420928	68494332	64	28181											
PCDHA10	56139	genome.wustl.edu	37	chr5	140237801	140237801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcactgaggtgctcggCggcgcccaccgagggcgcat	6	5	15	15	5	0	1	0	1	0	0	1	2	0	1	2	4	2	3	2	4	0	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr5:140237801C>T	ENST00000307360.5	+	1	2168	c.2168C>T	c.(2167-2169)gCg>gTg	p.A723V	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	723					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCTCGGCGGCGCCCACC	0.662																																																	0													25	22	23					5																	140237801		1321	2291	3612	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"Cadherins / Protocadherins : Clustered"	8664	other	complex locus constituent	"KIAA0345-like 4", "ortholog to mouse CNR8"	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2168C>T	5.37:g.140237801C>T	ENSP00000304234:p.Ala723Val		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A723V	ENST00000307360.5	37	c.2168	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	C	4.762	0.141785	0.09083	.	.	ENSG00000250120	ENST00000307360	T	0.15487	2.42	3.66	1.74	0.24563	.	.	.	.	.	T	0.14485	0.0350	L	0.46947	1.48	0.09310	N	0.999998	B;B	0.27192	0.171;0.06	B;B	0.26969	0.075;0.014	T	0.23440	-1.0188	9	0.41790	T	0.15	.	6.5474	0.22414	0.4415:0.3975:0.161:0.0	.	723;723	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	723	ENSP00000304234:A723V	ENSP00000304234:A723V	A	+	2	0	PCDHA10	140217985	0.000000	0.05858	0.280000	0.24747	0.065000	0.16274	-0.338000	0.07842	0.284000	0.22305	0.491000	0.48974	GCG	PCDHA10	-	NULL	ENSG00000250120		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0	57	0	C	NM_018901		140237801	1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	missense	50.00	20	20	SNP	0.305	T	T	140237801	C	T	140237801	3	4	99	1	0	0	0	0	1	0	0	0	11559	768	27	1	2170	1	PCDHA10	5	140237801	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	27816873	140237801	40677459	65	28182											
GRIA1	2890	genome.wustl.edu	37	chr5	153175034	153175034	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatttcccccctggttgaAgaggtcccgtaaacctagcg	8	11	10	12	2	0	2	0	1	0	1	2	2	2	2	5	2	2	3	5	2	5	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr5:153175034A>G	ENST00000285900.5	+	14	2728				GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000448073.4_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CCCTGGTTGAAGAGGTCCCGT	0.388																																																	0													138	114	121					5																	153175034		692	1591	2283	SO:0001627	intron_variant	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2385+739A>G	5.37:g.153175034A>G			B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Splice_Site	SNP	-	e14-2	ENST00000285900.5	37	c.2301-2	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527517	0.64860	.	.	ENSG00000155511	ENST00000544403;ENST00000340592;ENST00000448073	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6932	0.69101	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA1	153155227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.050000	0.93843	2.071000	0.62044	0.528000	0.53228	.	GRIA1	-	-	ENSG00000155511		0.388	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	-	0	65	0	A			153175034	1	tier1	-	no_errors	ENST00000448073	ensembl	human	known	74_37	splice_site	27.78	39	15	SNP	1.000	G	G	153175034	A	G	153175034	1	3	99	0	1	0	0	0	0	0	0	0	6794	86	3	4		4	GRIA1	5	153175034	Intron	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	12937233	153175034	27740226	66	28183											
ZKSCAN3	80317	genome.wustl.edu	37	chr6	28327648	28327648	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggagcagttcctGaccatcctgccggggaatct	6	10	13	12	1	1	1	0	1	1	0	3	3	3	3	4	4	3	3	4	4	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr6:28327648G>T	ENST00000377255.3	+	3	582	c.285G>T	c.(283-285)ctG>ctT	p.L95L	ZKSCAN3_ENST00000252211.2_Silent_p.L95L|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	95	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGCAGTTCCTGACCATCCTGC	0.627																																																	0													29	32	31					6																	28327648		2200	4291	6491	SO:0001819	synonymous_variant	0			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.285G>T	6.37:g.28327648G>T			B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L95	ENST00000377255.3	37	c.285	CCDS4650.1	6																																																																																			ZKSCAN3	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000189298		0.627	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3	-	0	31	0	G	NM_024493		28327648	1	tier1	-	no_errors	ENST00000252211	ensembl	human	known	74_37	silent	43.33	34	26	SNP	1.000	T	T	28327648	G	T	28327648	2	4	99	1	0	0	0	0	0	0	0	1	17736	1277	45	3		3	ZKSCAN3	6	28327648	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		28327648	142787419	67	28184											
CRIP3	401262	genome.wustl.edu	37	chr6	43274241	43274241	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccccagtgaatgtctTcatatggggagggcctttaa	8	12	12	9	0	3	1	1	1	2	0	4	2	3	2	3	4	0	0	3	4	3	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr6:43274241T>G	ENST00000274990.4	-	5	347	c.343A>C	c.(343-345)Aag>Cag	p.K115Q	ZNF318_ENST00000607252.1_5'Flank|CRIP3_ENST00000372569.3_Missense_Mutation_p.K115Q			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	115					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTGAATGTCTTCATATGGGGA	0.557																																																	0													52	52	52					6																	43274241		2203	4300	6503	SO:0001583	missense	0			AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.343A>C	6.37:g.43274241T>G	ENSP00000274990:p.Lys115Gln		A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K115Q	ENST00000274990.4	37	c.343		6	.	.	.	.	.	.	.	.	.	.	T	14.37	2.515047	0.44763	.	.	ENSG00000146215	ENST00000372569;ENST00000274990	T;T	0.42513	0.97;0.97	4.75	4.75	0.60458	.	0.370065	0.23672	N	0.045714	T	0.10551	0.0258	N	0.19112	0.55	0.31938	N	0.611334	P;P	0.41313	0.745;0.527	B;B	0.31686	0.134;0.114	T	0.07385	-1.0775	10	0.19590	T	0.45	-33.6687	12.5041	0.55972	0.0:0.0:0.0:1.0	.	115;115	Q6Q6R5;Q6Q6R5-3	CRIP3_HUMAN;.	Q	115	ENSP00000361650:K115Q;ENSP00000274990:K115Q	ENSP00000274990:K115Q	K	-	1	0	CRIP3	43382219	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.640000	0.61368	1.899000	0.54978	0.459000	0.35465	AAG	CRIP3	-	NULL	ENSG00000146215		0.557	CRIP3-004	KNOWN	basic	protein_coding	CRIP3	HGNC	protein_coding	OTTHUMT00000313968.1	-	0	18	0	T			43274241	-1	tier1	-	no_errors	ENST00000274990	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G	G	43274241	T	G	43274241	3	3	99	1	0	0	0	0	1	0	0	0	3883	1792	62	4	287	4	CRIP3	6	43274241	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	14946593	43274241	127840826	68	28185											
PHIP	55023	genome.wustl.edu	37	chr6	79655198	79655198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaagctttggaatgtttCacagaattctctagtactaa	13	15	6	7	0	3	1	2	0	1	1	4	2	3	2	0	1	2	3	0	1	6	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr6:79655198C>T	ENST00000275034.4	-	39	4814	c.4647G>A	c.(4645-4647)gtG>gtA	p.V1549V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1549					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGGAATGTTTCACAGAATTCT	0.294																																																	0													63	60	61					6																	79655198		2203	4300	6503	SO:0001819	synonymous_variant	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4647G>A	6.37:g.79655198C>T			A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.V1549	ENST00000275034.4	37	c.4647	CCDS4987.1	6																																																																																			PHIP	-	NULL	ENSG00000146247		0.294	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	-	0	42	0	C			79655198	-1	tier1	-	no_errors	ENST00000275034	ensembl	human	known	74_37	silent	23.91	35	11	SNP	0.998	T	T	79655198	C	T	79655198	2	4	99	1	0	0	0	0	0	0	0	1	11881	813	29	3		3	PHIP	6	79655198	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	36380957	79655198	91459869	69	28186											
GPR146	115330	genome.wustl.edu	37	chr7	1098155	1098155	+	3'UTR	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtgctggcgtaggCggcccagccctcctggggag	5	5	18	13	2	0	0	0	0	0	0	1	1	1	1	3	6	3	4	3	6	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr7:1098155C>A	ENST00000397095.1	+	0	1227				C7orf50_ENST00000357429.6_Intron|GPR146_ENST00000297468.3_3'UTR|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|RP11-449P15.1_ENST00000549241.1_RNA			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTGGCGTAGGCGGCCCAGCCC	0.642																																																	0													22	25	24					7																	1098155		2200	4299	6499	SO:0001624	3_prime_UTR_variant	0			BC014241	CCDS5321.1	7p22.3	2012-08-21			ENSG00000164849	ENSG00000164849		"GPCR / Class A : Orphans"	21718	protein-coding gene	gene with protein product							Standard	NM_138445		Approved	PGR8	uc003sjy.1	Q96CH1	OTTHUMG00000023934	ENST00000397095.1:c.*2C>A	7.37:g.1098155C>A			Q86SP5	RNA	SNP	-	NULL	ENST00000397095.1	37	NULL	CCDS5321.1	7																																																																																			RP11-449P15.1	-	-	ENSG00000257607		0.642	GPR146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257607	Clone_based_vega_gene	protein_coding	OTTHUMT00000206855.1	-	0	10	0	C	NM_138445		1098155	-1	tier1	-	no_errors	ENST00000549241	ensembl	human	known	74_37	rna	71.43	2	5	SNP	0.755	A	A	1098155	C	A	1098155	1	1	99	0	1	0	0	0	0	0	0	0	6678	783	27	2		2	GPR146	7	1098155	3'UTR	SNP	C	TCGA-LN-A49L-01A-11D-A247-09		1098155	158040508	70	28187											
ZNF736	728927	genome.wustl.edu	37	chr7	63797361	63797361	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagtagccaaacacccagGtaggtgggagtgaatgaagc	13	5	15	8	0	0	2	0	2	0	0	0	3	0	3	2	4	3	3	2	4	5	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr7:63797361G>T	ENST00000423484.2	+	3	348		c.e3+1		ZNF736_ENST00000355095.4_Splice_Site			B4DX44	ZN736_HUMAN	zinc finger protein 736						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						AAACACCCAGGTAGGTGGGAG	0.483																																																	0													66	61	62					7																	63797361		692	1591	2283	SO:0001630	splice_region_variant	0				CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"Zinc fingers, C2H2-type", "-"	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.226+1G>T	7.37:g.63797361G>T				Splice_Site	SNP	-	e3+1	ENST00000423484.2	37	c.226+1	CCDS55114.1	7	.	.	.	.	.	.	.	.	.	.	G	2.773	-0.255340	0.05829	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.20638	N	0.999879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF736	63434796	0.993000	0.37304	0.040000	0.18447	0.040000	0.13550	1.378000	0.34328	0.308000	0.22923	0.313000	0.20887	.	ZNF736	-	-	ENSG00000234444		0.483	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF736	HGNC	protein_coding	OTTHUMT00000344559.2	-	0	29	0	G	NM_001170905	Intron	63797361	1	tier1	-	no_errors	ENST00000355095	ensembl	human	known	74_37	splice_site	11.27	62	8	SNP	0.045	T	T	63797361	G	T	63797361	5	4	99	1	0	0	0	0	0	0	1	0	18173	1275	44	3	237	3	ZNF736	7	63797361	Splice_Site	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	62699206	63797361	95341302	71	28188											
DYNC1I1	1780	genome.wustl.edu	37	chr7	95457368	95457368	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttgtgctgcacaattaGgaccctgcagtgggacacag	9	10	11	11	0	0	0	0	0	0	0	1	2	1	2	2	2	3	3	2	2	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr7:95457368G>A	ENST00000324972.6	+	5	558		c.e5-1		DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000457059.1_Splice_Site|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000447467.2_Splice_Site|DYNC1I1_ENST00000359388.4_Intron	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGCACAATTAGGACCCTGCAG	0.428																																																	0													292	289	290					7																	95457368		2203	4300	6503	SO:0001630	splice_region_variant	0			AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"Cytoplasmic dyneins", "WD repeat domain containing"	2963	protein-coding gene	gene with protein product		603772	"dynein, cytoplasmic, intermediate polypeptide 1"	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.366-1G>A	7.37:g.95457368G>A			B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Splice_Site	SNP	-	e4-1	ENST00000324972.6	37	c.366-1	CCDS5644.1	7	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738687	0.69304	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000518089;ENST00000457059	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.134	0.81465	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1I1	95295304	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.243000	0.78219	2.558000	0.86282	0.655000	0.94253	.	DYNC1I1	-	-	ENSG00000158560		0.428	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYNC1I1	HGNC	protein_coding	OTTHUMT00000333432.1	-	0	82	0	G	NM_004411	Intron	95457368	1	tier1	-	no_errors	ENST00000324972	ensembl	human	known	74_37	splice_site	43.51	74	57	SNP	1.000	A	A	95457368	G	A	95457368	5	1	99	1	0	0	0	0	0	0	1	0	4856	1014	35	3	379	3	DYNC1I1	7	95457368	Splice_Site	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	31660007	95457368	63681295	72	28189											
DPP6	1804	genome.wustl.edu	37	chr7	154667636	154667636	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcaccccaggcagccAgagtgtggctgagaagttcg	9	6	16	10	1	0	2	0	1	0	2	1	4	0	3	3	4	1	4	3	4	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr7:154667636A>T	ENST00000377770.3	+	20	2045	c.1904A>T	c.(1903-1905)cAg>cTg	p.Q635L	DPP6_ENST00000332007.3_Missense_Mutation_p.Q573L|DPP6_ENST00000404039.1_Missense_Mutation_p.Q571L|DPP6_ENST00000427557.1_Missense_Mutation_p.Q528L			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	635					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAGGCAGCCAGAGTGTGGCT	0.647																																					NSCLC(125;1384 1783 2490 7422 34254)												0													26	31	29					7																	154667636		2074	4189	6263	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1904A>T	7.37:g.154667636A>T	ENSP00000367001:p.Gln635Leu			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.Q635L	ENST00000377770.3	37	c.1904		7	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254462	0.59212	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.93241	3.395	0.80722	D	1	D;P;D;P	0.56035	0.971;0.83;0.974;0.858	P;B;P;B	0.61070	0.883;0.316;0.644;0.281	T	0.79636	-0.1721	10	0.87932	D	0	-22.7146	14.5321	0.67934	1.0:0.0:0.0:0.0	.	528;573;635;571	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	L	571;635;573;528	ENSP00000385578:Q571L;ENSP00000367001:Q635L;ENSP00000328226:Q573L;ENSP00000397303:Q528L	ENSP00000328226:Q573L	Q	+	2	0	DPP6	154298569	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	8.890000	0.92477	1.820000	0.53075	0.352000	0.21897	CAG	DPP6	-	NULL	ENSG00000130226		0.647	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0	95	0	A	NM_130797		154667636	1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	55.56	24	30	SNP	1.000	T	T	154667636	A	T	154667636	3	4	99	1	0	0	0	0	1	0	0	0	4744	188	7	5	2098	5	DPP6	7	154667636	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	59210268	154667636	4471027	73	28190											
UBE3C	9690	genome.wustl.edu	37	chr7	157000528	157000528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccaagccagaagttcgaGaagaatatattacagcattt	18	9	7	7	1	0	3	0	0	0	3	1	4	0	3	2	0	4	2	2	0	8	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr7:157000528G>C	ENST00000348165.5	+	13	2068	c.1708G>C	c.(1708-1710)Gaa>Caa	p.E570Q		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	570					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGAAGTTCGAGAAGAATATAT	0.383																																																	0													117	117	117					7																	157000528		2203	4300	6503	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1708G>C	7.37:g.157000528G>C	ENSP00000309198:p.Glu570Gln		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.E570Q	ENST00000348165.5	37	c.1708	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810603	0.50421	.	.	ENSG00000009335	ENST00000348165	T	0.45668	0.89	5.56	4.67	0.58626	.	0.045379	0.85682	N	0.000000	T	0.60573	0.2279	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.69479	0.854;0.964	T	0.58544	-0.7618	10	0.25106	T	0.35	-20.384	16.3096	0.82864	0.0:0.1327:0.8673:0.0	.	570;570	Q15386;Q15386-2	UBE3C_HUMAN;.	Q	570	ENSP00000309198:E570Q	ENSP00000309198:E570Q	E	+	1	0	UBE3C	156693289	1.000000	0.71417	0.428000	0.26697	0.014000	0.08584	7.007000	0.76335	1.313000	0.45069	0.655000	0.94253	GAA	UBE3C	-	NULL	ENSG00000009335		0.383	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	-	0	32	0	G	NM_014671		157000528	1	tier1	-	no_errors	ENST00000348165	ensembl	human	known	74_37	missense	48.28	15	14	SNP	0.999	C	C	157000528	G	C	157000528	3	2	99	1	0	0	0	0	1	0	0	0	16930	943	33	5	1758	5	UBE3C	7	157000528	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	2332892	157000528	2138135	74	28191											
ESYT2	57488	genome.wustl.edu	37	chr7	158534278	158534278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcgagatgtccgaggCgatgctgggggtcggctcct	5	7	19	10	4	0	1	0	0	0	1	3	4	2	1	2	5	2	3	2	5	0	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr7:158534278C>T	ENST00000251527.5	-	17	2250	c.2185G>A	c.(2185-2187)Gcc>Acc	p.A729T	ESYT2_ENST00000435514.2_Missense_Mutation_p.A164T	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	757					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						ATGTCCGAGGCGATGCTGGGG	0.637																																																	0													50	48	49					7																	158534278		2203	4300	6503	SO:0001583	missense	0			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"Synaptotagmins"	22211	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member B"	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2185G>A	7.37:g.158534278C>T	ENSP00000251527:p.Ala729Thr		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A729T	ENST00000251527.5	37	c.2185	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554548	0.86231	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650	T;T;T	0.22336	1.96;1.99;2.35	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.66497	0.944;0.788	T	0.16070	-1.0415	10	0.19147	T	0.46	-17.3281	17.885	0.88851	0.0:1.0:0.0:0.0	.	729;757	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	T	729;778;720;164;164	ENSP00000251527:A729T;ENSP00000275418:A720T;ENSP00000411488:A164T	ENSP00000251527:A729T	A	-	1	0	ESYT2	158227039	1.000000	0.71417	0.977000	0.42913	0.238000	0.25445	7.422000	0.80217	2.541000	0.85698	0.655000	0.94253	GCC	ESYT2	-	NULL	ENSG00000117868		0.637	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	-	0	60	0	C	NM_020728		158534278	-1	tier1	-	no_errors	ENST00000251527	ensembl	human	known	74_37	missense	25.00	32	11	SNP	1.000	T	T	158534278	C	T	158534278	3	4	99	1	0	0	0	0	1	0	0	0	5281	768	27	1	520	1	ESYT2	7	158534278	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1533750	158534278	604385	75	28192											
WRN	7486	genome.wustl.edu	37	chr8	31012243	31012243	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctatggccatcacatactCtttattccaagaaaagaaga	15	11	6	9	0	3	3	1	0	2	3	4	3	4	3	2	1	1	0	2	1	7	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr8:31012243C>G	ENST00000298139.5	+	32	4040	c.3791C>G	c.(3790-3792)tCt>tGt	p.S1264C		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1264					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATCACATACTCTTTATTCCAA	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													86	80	82					8																	31012243		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3791C>G	8.37:g.31012243C>G	ENSP00000298139:p.Ser1264Cys		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S1264C	ENST00000298139.5	37	c.3791	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195685	0.58126	.	.	ENSG00000165392	ENST00000298139	T	0.56611	0.45	5.48	3.67	0.42095	.	0.611513	0.17015	N	0.190330	T	0.59865	0.2225	L	0.58101	1.795	0.28972	N	0.889197	D;D	0.65815	0.991;0.995	P;P	0.55785	0.619;0.784	T	0.56390	-0.7987	10	0.62326	D	0.03	-3.4008	9.2304	0.37432	0.0:0.7724:0.1466:0.0809	.	674;1264	Q59F09;Q14191	.;WRN_HUMAN	C	1264	ENSP00000298139:S1264C	ENSP00000298139:S1264C	S	+	2	0	WRN	31131785	0.035000	0.19736	0.239000	0.24122	0.944000	0.59088	0.567000	0.23608	0.677000	0.31305	0.585000	0.79938	TCT	WRN	-	NULL	ENSG00000165392		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	63	0	C			31012243	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.981	G	G	31012243	C	G	31012243	3	3	99	1	0	0	0	0	1	0	0	0	17451	913	32	5	3913	5	WRN	8	31012243	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09		31012243	115351779	76	28193											
ANK1	286	genome.wustl.edu	37	chr8	41581100	41581100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgatccagcagcagccgcaCcatgatcacgttgcccctgc	8	6	9	18	3	1	1	1	1	0	0	2	2	2	1	6	0	5	4	6	0	0	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr8:41581100C>T	ENST00000347528.4	-	8	846	c.763G>A	c.(763-765)Gtg>Atg	p.V255M	ANK1_ENST00000265709.8_Missense_Mutation_p.V288M|ANK1_ENST00000396945.1_Missense_Mutation_p.V255M|ANK1_ENST00000379758.2_Missense_Mutation_p.V255M|ANK1_ENST00000352337.4_Missense_Mutation_p.V255M|ANK1_ENST00000289734.7_Missense_Mutation_p.V255M|ANK1_ENST00000396942.1_Missense_Mutation_p.V255M	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	255	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCAGCCGCACCATGATCACG	0.642																																																	0													114	84	94					8																	41581100		2203	4300	6503	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"Ankyrin repeat domain containing"	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.763G>A	8.37:g.41581100C>T	ENSP00000339620:p.Val255Met		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.V255M	ENST00000347528.4	37	c.763	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	33	5.284942	0.95517	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.58	5.58	0.84498	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.63208	1.945	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;0.997;1.0	D	0.84456	0.0591	10	0.87932	D	0	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	288;255;255;255;255	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	M	255;255;255;255;255;255;288;255	ENSP00000339620:V255M;ENSP00000289734:V255M;ENSP00000369082:V255M;ENSP00000380149:V255M;ENSP00000380147:V255M;ENSP00000309131:V255M;ENSP00000265709:V288M	ENSP00000265709:V288M	V	-	1	0	ANK1	41700257	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.619000	0.88677	0.655000	0.94253	GTG	ANK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.642	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	-	0	56	0	C	NM_020475		41581100	-1	tier1	-	no_errors	ENST00000396942	ensembl	human	known	74_37	missense	15.89	90	17	SNP	1.000	T	T	41581100	C	T	41581100	3	4	99	1	0	0	0	0	1	0	0	0	620	507	18	3	5376	3	ANK1	8	41581100	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	10568857	41581100	104782922	77	28194											
COPS5	10987	genome.wustl.edu	37	chr8	67968797	67968797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctattttattaagtggaaTagtctggtactcagaaggtc	11	16	9	5	0	3	1	1	0	2	1	4	2	3	2	0	3	1	1	0	3	7	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr8:67968797T>C	ENST00000357849.4	-	5	936	c.616A>G	c.(616-618)Att>Gtt	p.I206V	PPP1R42_ENST00000517834.1_5'UTR|COPS5_ENST00000517736.1_Missense_Mutation_p.I142V|AC109335.1_ENST00000578628.1_RNA	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	206					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTAAGTGGAATAGTCTGGTAC	0.333																																																	0													81	84	83					8																	67968797		2203	4300	6503	SO:0001583	missense	0			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.616A>G	8.37:g.67968797T>C	ENSP00000350512:p.Ile206Val		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.I206V	ENST00000357849.4	37	c.616	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	T	15.08	2.725997	0.48833	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.73372	2.23	0.80722	D	1	P;B;P	0.42203	0.773;0.292;0.671	B;B;B	0.42361	0.253;0.309;0.385	T	0.62191	-0.6906	9	0.34782	T	0.22	-14.9449	14.9341	0.70938	0.0:0.0:0.0:1.0	.	175;142;206	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	V	206;142;142	.	ENSP00000350512:I206V	I	-	1	0	COPS5	68131351	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.000000	0.88501	1.987000	0.57996	0.528000	0.53228	ATT	COPS5	-	NULL	ENSG00000121022		0.333	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS5	HGNC	protein_coding	OTTHUMT00000379245.2	-	0	36	0	T			67968797	-1	tier1	-	no_errors	ENST00000357849	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	C	C	67968797	T	C	67968797	3	2	99	1	0	0	0	0	1	0	0	0	3743	1406	49	4	404	4	COPS5	8	67968797	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	26387697	67968797	78395225	78	28195											
SDC2	6383	genome.wustl.edu	37	chr8	97620584	97620584	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgaagaaactgataaaGagaaagttcacctctctgac	16	8	7	10	0	2	5	1	3	1	2	3	6	2	5	2	0	1	1	2	0	5	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr8:97620584G>C	ENST00000302190.4	+	4	1249	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	SDC2_ENST00000518385.1_Missense_Mutation_p.E74Q|SDC2_ENST00000522911.1_Missense_Mutation_p.E81Q|SDC2_ENST00000519914.1_Missense_Mutation_p.E81Q	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	110					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	AACTGATAAAGAGAAAGTTCA	0.383																																																	0													81	77	78					8																	97620584		2203	4300	6503	SO:0001583	missense	0			BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"Proteoglycans / Cell Surface : Syndecans", "CD molecules"	10659	protein-coding gene	gene with protein product	"syndecan proteoglycan 2"	142460	"heparan sulfate proteoglycan 1, cell surface-associated"	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.328G>C	8.37:g.97620584G>C	ENSP00000307046:p.Glu110Gln		B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	pfam_Syndecan/Neurexin_dom,smart_Neurexin-like	p.E110Q	ENST00000302190.4	37	c.328	CCDS6272.1	8	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859357	0.32884	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.34072	1.43;1.38;1.44;1.44;1.42	6.17	5.29	0.74685	.	0.256528	0.44902	D	0.000417	T	0.31544	0.0800	L	0.47716	1.5	0.35684	D	0.814336	B	0.31459	0.324	B	0.31390	0.129	T	0.39840	-0.9594	10	0.32370	T	0.25	-9.1083	11.2949	0.49272	0.1407:0.0:0.8593:0.0	.	110	P34741	SDC2_HUMAN	Q	110;74;110;100;81;81;81;81	ENSP00000307046:E110Q;ENSP00000429045:E74Q;ENSP00000427784:E81Q;ENSP00000428256:E81Q;ENSP00000429121:E81Q	ENSP00000307046:E110Q	E	+	1	0	SDC2	97689760	1.000000	0.71417	0.948000	0.38648	0.479000	0.33129	2.759000	0.47573	1.599000	0.50093	0.655000	0.94253	GAG	SDC2	-	pfam_Syndecan/Neurexin_dom	ENSG00000169439		0.383	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC2	HGNC	protein_coding	OTTHUMT00000379750.1		0	37	0	G	NM_002998		97620584	1			no_errors	ENST00000302190	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.996	C	C	97620584	G	C	97620584	3	2	99	1	0	0	0	0	1	0	0	0	13997	943	33	5	342	5	SDC2	8	97620584	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	29651787	97620584	48743438	79	28196											
MAF1	84232	genome.wustl.edu	37	chr8	145160882	145160882	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttctccaccccagacttCaggactgagccccagcaggt	9	8	8	16	0	2	2	1	1	1	1	3	3	2	3	5	2	2	1	5	2	0	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr8:145160882C>A	ENST00000322428.5	+	3	598	c.194C>A	c.(193-195)tCa>tAa	p.S65*	MAF1_ENST00000534585.1_Nonsense_Mutation_p.S65*|SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000532522.1_Nonsense_Mutation_p.S65*|SHARPIN_ENST00000533948.1_5'Flank|KIAA1875_ENST00000323662.8_5'Flank	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	65					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCAGACTTCAGGACTGAGC	0.602																																																	0													73	77	76					8																	145160882		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.194C>A	8.37:g.145160882C>A	ENSP00000318604:p.Ser65*		D3DWL4	Nonsense_Mutation	SNP	pfam_Maf1,pirsf_Maf1	p.S65*	ENST00000322428.5	37	c.194	CCDS6416.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.087606	0.94100	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527572;ENST00000527058	.	.	.	5.41	4.51	0.55191	.	0.127864	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2301	11.1771	0.48606	0.184:0.816:0.0:0.0	.	.	.	.	X	65	.	ENSP00000318604:S65X	S	+	2	0	MAF1	145232870	0.978000	0.34361	0.047000	0.18901	0.627000	0.37826	3.236000	0.51336	1.225000	0.43566	0.655000	0.94253	TCA	MAF1	-	pfam_Maf1,pirsf_Maf1	ENSG00000179632		0.602	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	-	0	20	0	C	NM_032272		145160882	1	tier1	-	no_errors	ENST00000322428	ensembl	human	known	74_37	nonsense	42.86	8	6	SNP	0.690	A	A	145160882	C	A	145160882	4	1	99	1	0	0	0	0	0	1	0	0	9192	838	29	3	200	3	MAF1	8	145160882	Nonsense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	47540298	145160882	1203140	80	28197											
CPSF1	29894	genome.wustl.edu	37	chr8	145624685	145624685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaaggagtaggtggccAgctgtgttcccgactgggcc	7	8	14	12	1	1	0	1	0	0	0	2	2	2	1	4	4	1	3	4	4	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr8:145624685A>G	ENST00000349769.3	-	14	1467	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	458					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTAGGTGGCCAGCTGTGTTCC	0.647																																					NSCLC(133;1088 1848 27708 34777 35269)												0													41	36	38					8																	145624685		2202	4300	6502	SO:0001583	missense	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1373T>C	8.37:g.145624685A>G	ENSP00000339353:p.Leu458Pro		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.L458P	ENST00000349769.3	37	c.1373	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	A	18.28	3.590209	0.66105	.	.	ENSG00000071894	ENST00000349769	T	0.47869	0.83	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	T	0.59582	0.2204	L	0.45581	1.43	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.54543	-0.8278	10	0.23891	T	0.37	-16.0952	13.8497	0.63489	1.0:0.0:0.0:0.0	.	458	Q10570	CPSF1_HUMAN	P	458	ENSP00000339353:L458P	ENSP00000339353:L458P	L	-	2	0	CPSF1	145595493	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	8.546000	0.90661	2.151000	0.67156	0.374000	0.22700	CTG	CPSF1	-	NULL	ENSG00000071894		0.647	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	-	0	43	0	A	NM_013291		145624685	-1	tier1	-	no_errors	ENST00000349769	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	G	G	145624685	A	G	145624685	3	3	99	1	0	0	0	0	1	0	0	0	3831	188	7	4	3058	4	CPSF1	8	145624685	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	463803	145624685	739337	81	28198											
KIAA1797	54914	genome.wustl.edu	37	chr9	20982419	20982419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatgacagatgatgatGccaatcggatcgcccaggtt	13	9	11	8	2	0	5	0	3	0	2	2	6	0	6	2	2	1	1	2	2	3	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:20982419G>T	ENST00000380249.1	+	41	5066	c.4702G>T	c.(4702-4704)Gcc>Tcc	p.A1568S	FOCAD_ENST00000605086.1_Missense_Mutation_p.A1004S|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1568S	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1568						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGATGATGATGCCAATCGGAT	0.343																																																	0													131	136	134					9																	20982419		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"KIAA1797"	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4702G>T	9.37:g.20982419G>T	ENSP00000369599:p.Ala1568Ser		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.A1568S	ENST00000380249.1	37	c.4702	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373859	0.42105	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.19806	2.12;2.12	5.83	3.75	0.43078	.	0.458832	0.24407	N	0.038781	T	0.16896	0.0406	L	0.36672	1.1	0.09310	N	1	B	0.31459	0.324	B	0.36418	0.224	T	0.16660	-1.0395	10	0.66056	D	0.02	-34.3225	5.2446	0.15490	0.1394:0.0:0.6511:0.2096	.	1568	Q5VW36	K1797_HUMAN	S	1568	ENSP00000369599:A1568S;ENSP00000344307:A1568S	ENSP00000344307:A1568S	A	+	1	0	KIAA1797	20972419	0.727000	0.28069	0.037000	0.18230	0.737000	0.42083	1.954000	0.40362	1.457000	0.47850	0.561000	0.74099	GCC	FOCAD	-	pfam_DUF3028	ENSG00000188352		0.343	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1		0	31	0	G	NM_017794		20982419	1			no_errors	ENST00000338382	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.166	T	T	20982419	G	T	20982419	3	4	99	1	0	0	0	0	1	0	0	0	8285	1319	46	3	4852	3	KIAA1797	9	20982419	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		20982419	120231012	82	28199											
FOXD4L5	653427	genome.wustl.edu	37	chr9	70177146	70177146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctttcttcggtgcccCggcatagacgggggccgaga	5	10	14	12	4	2	2	0	0	2	2	3	3	2	2	3	4	2	2	3	4	1	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:70177146C>T	ENST00000377420.1	-	1	1669	c.838G>A	c.(838-840)Ggg>Agg	p.G280R		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	280					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G280W(2)		endometrium(5)|lung(2)	7						TTCGGTGCCCCGGCATAGACG	0.687																																																	2	Substitution - Missense(2)	lung(2)											2	3	3					9																	70177146		498	1280	1778	SO:0001583	missense	0				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.838G>A	9.37:g.70177146C>T	ENSP00000366637:p.Gly280Arg			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G280R	ENST00000377420.1	37	c.838	CCDS47977.1	9	.	.	.	.	.	.	.	.	.	.	c	5.330	0.246252	0.10130	.	.	ENSG00000204779	ENST00000377420	D	0.93547	-3.24	.	.	.	.	0.804204	0.10057	U	0.721372	T	0.80984	0.4729	N	0.19112	0.55	0.09310	N	1	P	0.45011	0.848	B	0.19946	0.027	T	0.71619	-0.4538	8	0.27082	T	0.32	.	.	.	.	.	280	Q5VV16	FX4L5_HUMAN	R	280	ENSP00000366637:G280R	ENSP00000366637:G280R	G	-	1	0	FOXD4L5	69466966	0.003000	0.15002	0.051000	0.19133	0.229000	0.25112	-0.001000	0.12947	0.534000	0.28695	0.074000	0.15403	GGG	FOXD4L5	-	NULL	ENSG00000204779		0.687	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	HGNC	protein_coding	OTTHUMT00000037122.1	-	0	61	0	C	NM_001126334		70177146	-1	tier1	-	no_errors	ENST00000377420	ensembl	human	known	74_37	missense	11.70	83	11	SNP	0.115	T	T	70177146	C	T	70177146	3	4	99	1	0	0	0	0	1	0	0	0	6026	652	23	1	416	1	FOXD4L5	9	70177146	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	49194727	70177146	71036285	83	28200											
FLJ46321	389763	genome.wustl.edu	37	chr9	84608402	84608402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgagaagacaattttCtgatactgaccatgacctta	13	11	7	10	0	1	5	0	4	1	2	1	7	1	5	3	0	1	0	3	0	4	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:84608402C>A	ENST00000344803.2	+	4	3064	c.3017C>A	c.(3016-3018)tCt>tAt	p.S1006Y		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1006					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGACAATTTTCTGATACTGAC	0.473																																																	0													154	157	156					9																	84608402		1904	4113	6017	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"family with sequence similarity 75, member D1"	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3017C>A	9.37:g.84608402C>A	ENSP00000341988:p.Ser1006Tyr			Missense_Mutation	SNP	NULL	p.S1006Y	ENST00000344803.2	37	c.3017	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	7.392	0.630973	0.14322	.	.	ENSG00000214929	ENST00000344803	T	0.08807	3.05	1.85	0.926	0.19430	.	1.177410	0.06758	U	0.781296	T	0.11367	0.0277	N	0.19112	0.55	0.09310	N	1	D	0.64830	0.994	P	0.59595	0.86	T	0.32025	-0.9922	10	0.51188	T	0.08	.	4.2595	0.10733	0.0:0.7854:0.0:0.2146	.	1006	Q6ZQQ2	F75D1_HUMAN	Y	1006	ENSP00000341988:S1006Y	ENSP00000341988:S1006Y	S	+	2	0	FAM75D1	83798222	0.004000	0.15560	0.052000	0.19188	0.017000	0.09413	0.225000	0.17757	0.367000	0.24454	0.485000	0.47835	TCT	SPATA31D1	-	NULL	ENSG00000214929		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0	64	0	C	NM_001001670		84608402	1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	25.00	54	18	SNP	0.054	A	A	84608402	C	A	84608402	3	1	99	1	0	0	0	0	1	0	0	0	5954	913	32	3	3031	3	FLJ46321	9	84608402	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	14431256	84608402	56605029	84	28201											
OR13C5	138799	genome.wustl.edu	37	chr9	107361179	107361182	+	Frame_Shift_Del	DEL	GTTA	GTTA	-																															caggtgaaatgattgatgatGttattcctgcagaaaggcaa																								rs202235686	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	GTTA	GTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:107361179_107361182delGTTA	ENST00000374779.2	-	1	606_609	c.513_516delTAAC	c.(511-516)aataacfs	p.NN171fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GATTGATGATGTTATTCCTGCAGA	0.451														276	0.0551118	0.0817	0.0202	5008	,	,		25393	0.0585		0.0089	False		,,,				2504	0.0879																0																																										SO:0001589	frameshift_variant	0				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"GPCR / Class A : Olfactory receptors"	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.513_516delTAAC	9.37:g.107361179_107361182delGTTA	ENSP00000363911:p.Asn171fs		B2RNE5|B9EGW5|Q6IF53	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N171fs	ENST00000374779.2	37	c.516_513	CCDS35091.1	9																																																																																			OR13C5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255800		0.451	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C5	HGNC	protein_coding	OTTHUMT00000053479.2		0	62	0	GTTA	NM_001004482		107361182	-1			no_errors	ENST00000374779	ensembl	human	known	74_37	frame_shift_del	8.08	91	8	DEL	0.000:0.000:0.000:0.000	0	-	107361182	GTTA	-	107361179	7	5	99	1	0	1	0	1	0	0	0	0	10976	1368	48	0	442	0	OR13C5	9	107361179	Frame_Shift_Del	DEL	GTTA	TCGA-LN-A49L-01A-11D-A247-09	22752777	107361179	33852252	85	28202											
SUSD1	64420	genome.wustl.edu	37	chr9	114820919	114820919	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgccttcagaatcacaaGaaaatgtgctttggagggcc	13	8	11	9	1	2	2	2	0	0	2	2	3	2	3	2	2	2	1	2	2	5	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:114820919G>C	ENST00000374270.3	-	14	2070	c.1898C>G	c.(1897-1899)tCt>tGt	p.S633C	SUSD1_ENST00000374264.2_Missense_Mutation_p.S633C|SUSD1_ENST00000374263.3_Missense_Mutation_p.S633C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	633						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAATCACAAGAAAATGTGCT	0.488																																																	0													96	100	99					9																	114820919		2203	4300	6503	SO:0001583	missense	0			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1898C>G	9.37:g.114820919G>C	ENSP00000363388:p.Ser633Cys		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.S633C	ENST00000374270.3	37	c.1898	CCDS6783.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.87|11.87	1.768777|1.768777	0.31320|0.31320	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000355396|ENST00000374270;ENST00000374263;ENST00000374264	T|T;T;T	0.27720|0.32515	1.65|1.45;1.45;1.45	5.44|5.44	4.52|4.52	0.55395|0.55395	.|.	.|1.230040	.|0.05837	.|N	.|0.618582	T|T	0.35885|0.35885	0.0947|0.0947	L|L	0.44542|0.44542	1.39|1.39	0.26856|0.26856	N|N	0.968058|0.968058	.|P;D;P	.|0.54964	.|0.911;0.969;0.761	.|P;P;B	.|0.50192	.|0.634;0.634;0.338	T|T	0.12372|0.12372	-1.0550|-1.0550	7|10	0.72032|0.42905	D|T	0.01|0.14	-0.135|-0.135	5.9796|5.9796	0.19399|0.19399	0.1774:0.0:0.6696:0.1529|0.1774:0.0:0.6696:0.1529	.|.	.|633;633;633	.|F8WAQ1;Q6UWL2-2;Q6UWL2	.|.;.;SUSD1_HUMAN	L|C	616|633	ENSP00000347558:F616L|ENSP00000363388:S633C;ENSP00000363381:S633C;ENSP00000363382:S633C	ENSP00000347558:F616L|ENSP00000363381:S633C	F|S	-|-	3|2	2|0	SUSD1|SUSD1	113860740|113860740	0.383000|0.383000	0.25156|0.25156	0.997000|0.997000	0.53966|0.53966	0.155000|0.155000	0.21991|0.21991	0.123000|0.123000	0.15708|0.15708	1.230000|1.230000	0.43646|0.43646	0.561000|0.561000	0.74099|0.74099	TTC|TCT	SUSD1	-	NULL	ENSG00000106868		0.488	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	-	0	40	0	G	NM_022486		114820919	-1	tier1	-	no_errors	ENST00000374264	ensembl	human	known	74_37	missense	12.12	58	8	SNP	0.995	C	C	114820919	G	C	114820919	3	2	99	1	0	0	0	0	1	0	0	0	15454	942	33	5	361	5	SUSD1	9	114820919	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	7459740	114820919	26392512	86	28203											
OR1L6	392390	genome.wustl.edu	37	chr9	125512324	125512324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtacttttttctcagcaaCttgtctttcatggatatctg	8	19	6	8	0	4	0	2	0	3	0	5	1	4	1	0	1	3	2	0	1	3	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:125512324C>A	ENST00000373684.1	+	1	306	c.306C>A	c.(304-306)aaC>aaA	p.N102K	OR1L6_ENST00000304720.2_Missense_Mutation_p.N66K			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TTCTCAGCAACTTGTCTTTCA	0.488																																																	0													94	89	91					9																	125512324		2203	4297	6500	SO:0001583	missense	0				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.306C>A	9.37:g.125512324C>A	ENSP00000362788:p.Asn102Lys		Q6IFM8|Q96R80	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N102K	ENST00000373684.1	37	c.306		9	.	.	.	.	.	.	.	.	.	.	.	15.35	2.808120	0.50421	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.01947	4.54;4.54	4.35	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.108803	0.40302	N	0.001139	T	0.04815	0.0130	M	0.75884	2.315	0.32881	D	0.510531	P	0.48503	0.911	P	0.45998	0.5	T	0.14811	-1.0459	10	0.87932	D	0	-22.1104	8.6478	0.34016	0.0:0.7379:0.0:0.2621	.	102	Q8NGR2	OR1L6_HUMAN	K	102;66	ENSP00000362788:N102K;ENSP00000304235:N66K	ENSP00000304235:N66K	N	+	3	2	OR1L6	124552145	0.000000	0.05858	0.838000	0.33150	0.989000	0.77384	-0.910000	0.04054	0.207000	0.20607	0.655000	0.94253	AAC	OR1L6	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000171459		0.488	OR1L6-201	KNOWN	basic	protein_coding	OR1L6	HGNC	protein_coding		-	0	62	0	C			125512324	1	tier1	-	no_errors	ENST00000373684	ensembl	human	known	74_37	missense	63.38	26	45	SNP	0.949	A	A	125512324	C	A	125512324	3	1	99	1	0	0	0	0	1	0	0	0	11005	564	20	3	200	3	OR1L6	9	125512324	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	10691405	125512324	15701107	87	28204											
BAT2L1	84726	genome.wustl.edu	37	chr9	134346214	134346214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcactggcagccggtgtacCccccgccgtcccacccccag	6	4	10	21	3	0	0	0	0	0	0	1	0	1	0	8	2	3	3	8	2	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:134346214C>T	ENST00000357304.4	+	13	2006	c.1951C>T	c.(1951-1953)Ccc>Tcc	p.P651S	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P651S|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P651S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	651							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCGGTGTACCCCCCGCCGTC	0.627																																																	0													27	32	30					9																	134346214		2105	4221	6326	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1951C>T	9.37:g.134346214C>T	ENSP00000349856:p.Pro651Ser		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.P651S	ENST00000357304.4	37	c.1951	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136827	0.56936	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550	T;T;T	0.16457	2.34;2.34;2.34	5.71	5.71	0.89125	.	0.000000	0.41605	U	0.000857	T	0.32285	0.0824	L	0.55213	1.73	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.00494	-1.1706	10	0.25106	T	0.35	-0.5704	18.8439	0.92196	0.0:1.0:0.0:0.0	.	651	Q5JSZ5	PRC2B_HUMAN	S	651	ENSP00000384606:P651S;ENSP00000349856:P651S;ENSP00000398853:P651S	ENSP00000349856:P651S	P	+	1	0	PRRC2B	133336035	1.000000	0.71417	0.998000	0.56505	0.633000	0.38033	5.731000	0.68554	2.707000	0.92482	0.655000	0.94253	CCC	PRRC2B	-	NULL	ENSG00000130723		0.627	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding			0	20	0	C			134346214	1			no_errors	ENST00000357304	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	T	T	134346214	C	T	134346214	3	4	99	1	0	0	0	0	1	0	0	0	1321	623	22	3	2001	3	BAT2L1	9	134346214	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	8833890	134346214	6867217	88	28205											
KIAA0649	9858	genome.wustl.edu	37	chr9	138377490	138377490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagctgtaccagctgcaGaaaacacgcaaggaggccga	14	4	11	12	2	0	1	0	0	0	1	1	3	1	2	3	2	5	5	3	2	4	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:138377490G>A	ENST00000356818.2	+	4	1683	c.1134G>A	c.(1132-1134)caG>caA	p.Q378Q	PPP1R26_ENST00000401470.3_Silent_p.Q378Q|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.Q378Q|PPP1R26_ENST00000605660.1_Silent_p.Q378Q|PPP1R26_ENST00000605286.1_Silent_p.Q378Q	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	378					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										ACCAGCTGCAGAAAACACGCA	0.642																																																	0													41	47	45					9																	138377490		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29089	protein-coding gene	gene with protein product	"DRIM/UTP20 interacting protein", "1A6/DRIM (down-regulated in metastasis) interacting protein"	614056	"KIAA0649"	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1134G>A	9.37:g.138377490G>A			Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	NULL	p.Q378	ENST00000356818.2	37	c.1134	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.642	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0	61	0	G	NM_014811		138377490	1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	silent	30.91	38	17	SNP	1.000	A	A	138377490	G	A	138377490	2	1	99	1	0	0	0	0	0	0	0	1	8214	933	33	3		3	KIAA0649	9	138377490	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	4031276	138377490	2835941	89	28206											
SNAPC4	6621	genome.wustl.edu	37	chr9	139286514	139286514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctggggtgctccgagttCtgccagaacttccggatctc	6	11	12	12	2	2	1	0	0	2	1	5	3	4	2	3	3	4	3	3	3	1	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr9:139286514C>A	ENST00000298532.2	-	9	1223	c.855G>T	c.(853-855)caG>caT	p.Q285H		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTCCGAGTTCTGCCAGAACT	0.637																																																	0													118	112	114					9																	139286514		2203	4300	6503	SO:0001583	missense	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.855G>T	9.37:g.139286514C>A	ENSP00000298532:p.Gln285His			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Q285H	ENST00000298532.2	37	c.855	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874939	0.72180	.	.	ENSG00000165684	ENST00000298532	T	0.31769	1.48	5.69	4.8	0.61643	SANT domain, DNA binding (1);Homeodomain-like (1);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.63843	1.955	0.37453	D	0.914891	D	0.89917	1.0	D	0.87578	0.998	T	0.58730	-0.7585	10	0.72032	D	0.01	-24.4653	10.2909	0.43594	0.0:0.8334:0.0:0.1666	.	285	Q5SXM2	SNPC4_HUMAN	H	285	ENSP00000298532:Q285H	ENSP00000298532:Q285H	Q	-	3	2	SNAPC4	138406335	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	3.307000	0.51888	1.405000	0.46838	-0.150000	0.13652	CAG	SNAPC4	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000165684		0.637	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	-	0	36	0	C	NM_003086		139286514	-1	tier1	-	no_errors	ENST00000298532	ensembl	human	known	74_37	missense	77.27	5	17	SNP	1.000	A	A	139286514	C	A	139286514	3	1	99	1	0	0	0	0	1	0	0	0	14882	912	32	3	3610	3	SNAPC4	9	139286514	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	909024	139286514	1926917	90	28207											
OPTN	10133	genome.wustl.edu	37	chr10	13151284	13151284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaccgagaaccaccagctGaaaggtgagcagggctggcc	11	4	14	12	1	0	4	0	3	0	1	0	5	0	4	4	3	3	3	4	3	2	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:13151284G>A	ENST00000378748.3	+	4	524	c.162G>A	c.(160-162)ctG>ctA	p.L54L	OPTN_ENST00000378747.3_Silent_p.L54L|OPTN_ENST00000378752.3_Silent_p.L54L|OPTN_ENST00000378764.2_Silent_p.L54L|OPTN_ENST00000263036.5_Silent_p.L54L|OPTN_ENST00000378757.2_Silent_p.L54L|OPTN_ENST00000482140.1_3'UTR	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	54					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACCACCAGCTGAAAGGTGAGC	0.602																																																	0													55	57	56					10																	13151284		2203	4300	6503	SO:0001819	synonymous_variant	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"glaucoma 1, open angle, E (adult-onset)"	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.162G>A	10.37:g.13151284G>A			B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Silent	SNP	pfam_NEMO_N	p.L54	ENST00000378748.3	37	c.162	CCDS7094.1	10																																																																																			OPTN	-	pfam_NEMO_N	ENSG00000123240		0.602	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1		0	12	0	G	NM_021980		13151284	1			no_errors	ENST00000263036	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.977	A	A	13151284	G	A	13151284	2	1	99	1	0	0	0	0	0	0	0	1	10928	1277	45	3		3	OPTN	10	13151284	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		13151284	122383463	91	28208											
DCLRE1C	64421	genome.wustl.edu	37	chr10	14950954	14950955	+	Missense_Mutation	DNP	GT	GT	TG																															actgagatccccctgccactGtggaggaagggaagttttcc																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G|T	G|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:14950954_14950955GT>TG	ENST00000378278.2	-	14	1568_1569	c.1531_1532AC>CA	c.(1531-1533)ACa>CAa	p.T511Q	DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T391Q|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T396Q|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T396Q|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T396Q|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T391Q|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T391Q|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T164Q|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T391Q|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T391Q			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	511					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCCTGCCACTGTGGAGGAAGGG	0.45								Non-homologous end-joining																																									0																																										SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"PSO2 homolog (S. cerevisiae)"	605988	"severe combined immunodeficiency, type a (Athabascan)", "DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1531_1532delinsTG	10.37:g.14950954_14950955delinsTG	ENSP00000367527:p.Thr511Gln		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.T511K|p.T511P	ENST00000378278.2	37	c.1532|c.1531	CCDS31149.1	10																																																																																			DCLRE1C	-	NULL	ENSG00000152457		0.45	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0	36|35	0	G|T	NM_022487		14950954|14950955	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	22.89	64	19	SNP	0.957|0.958	T|G	TG	14950955	GT	TG	14950954	3	4	99	1	0	0	0	0	1	0	0	0	4305	1377	48	3	550	3	DCLRE1C	10	14950954	Missense_Mutation	DNP	GT	TCGA-LN-A49L-01A-11D-A247-09	1799670	14950954	120583793	92	28209											
CUBN	8029	genome.wustl.edu	37	chr10	17171716	17171716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccatttacttcagcaaataTtaataaggtaagcaaactcc	16	11	5	9	0	1	0	1	0	0	0	2	0	2	0	2	1	4	3	2	1	7	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:17171716T>C	ENST00000377833.4	-	1	114	c.49A>G	c.(49-51)Ata>Gta	p.I17V	CUBN_ENST00000377823.1_Missense_Mutation_p.I17V	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	17					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGCAAATATTAATAAGGTA	0.428																																																	0													157	152	154					10																	17171716		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.49A>G	10.37:g.17171716T>C	ENSP00000367064:p.Ile17Val		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.I17V	ENST00000377833.4	37	c.49	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.150314	0.00328	.	.	ENSG00000107611	ENST00000377833;ENST00000377823	T;D	0.89270	-0.86;-2.49	5.3	-0.325	0.12702	.	1.025100	0.07812	N	0.958279	T	0.73513	0.3596	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.59263	-0.7487	10	0.34782	T	0.22	.	2.6368	0.04960	0.1384:0.0797:0.2867:0.4952	.	17	O60494	CUBN_HUMAN	V	17	ENSP00000367064:I17V;ENSP00000367054:I17V	ENSP00000367054:I17V	I	-	1	0	CUBN	17211722	0.005000	0.15991	0.003000	0.11579	0.013000	0.08279	0.149000	0.16243	0.059000	0.16252	0.482000	0.46254	ATA	CUBN	-	NULL	ENSG00000107611		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0	65	0	T	NM_001081		17171716	-1	tier1	-	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	25.98	94	33	SNP	0.004	C	C	17171716	T	C	17171716	3	2	99	1	0	0	0	0	1	0	0	0	4060	1493	52	4	11090	4	CUBN	10	17171716	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	2220762	17171716	118363031	93	28210											
CHAT	1103	genome.wustl.edu	37	chr10	50854688	50854688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaggctacagcaagaacGgggccaatcgctggtacgac	11	4	15	11	4	0	1	0	0	0	1	1	3	0	2	1	5	4	4	1	5	5	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:50854688G>A	ENST00000337653.2	+	8	1402	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	CHAT_ENST00000395559.2_Missense_Mutation_p.G299R|CHAT_ENST00000351556.3_Missense_Mutation_p.G299R|CHAT_ENST00000395562.2_Missense_Mutation_p.G335R|CHAT_ENST00000455728.2_Missense_Mutation_p.G299R|CHAT_ENST00000339797.1_Missense_Mutation_p.G299R	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	417					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAGCAAGAACGGGGCCAATCG	0.642																																																	0													78	67	71					10																	50854688		2203	4300	6503	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"choline acetyltransferase"			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1249G>A	10.37:g.50854688G>A	ENSP00000337103:p.Gly417Arg		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G417R	ENST00000337653.2	37	c.1249	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579561	0.86645	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.46	5.46	0.80206	.	0.110722	0.64402	D	0.000005	D	0.95918	0.8671	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.95761	0.8800	10	0.54805	T	0.06	-28.1281	19.2976	0.94129	0.0:0.0:1.0:0.0	.	299;417	F8W8I2;P28329	.;CLAT_HUMAN	R	299;299;299;417;335;299	ENSP00000343486:G299R;ENSP00000345878:G299R;ENSP00000378926:G299R;ENSP00000337103:G417R;ENSP00000378929:G335R;ENSP00000390521:G299R	ENSP00000337103:G417R	G	+	1	0	CHAT	50524694	1.000000	0.71417	0.886000	0.34754	0.812000	0.45895	5.956000	0.70315	2.569000	0.86673	0.655000	0.94253	GGG	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.642	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0	23	0	G	NM_020549		50854688	1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	45.28	29	24	SNP	1.000	A	A	50854688	G	A	50854688	3	1	99	1	0	0	0	0	1	0	0	0	3320	1116	39	1	1323	1	CHAT	10	50854688	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	33682972	50854688	84680059	94	28211											
C10orf53	282966	genome.wustl.edu	37	chr10	50916563	50916563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtattggcccagattggatCatgtatccatttccaaacca	11	13	7	10	0	1	1	1	0	0	1	3	2	3	2	4	2	1	2	4	2	3	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:50916563C>T	ENST00000374112.3	+	3	386	c.374C>T	c.(373-375)tCa>tTa	p.S125L	C10orf53_ENST00000535836.1_Missense_Mutation_p.S125L	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				cagattggatcatgtatccat	0.493																																																	0													157	153	154					10																	50916563		2203	4300	6503	SO:0001583	missense	0			BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.374C>T	10.37:g.50916563C>T	ENSP00000363226:p.Ser125Leu		A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	NULL	p.S125L	ENST00000374112.3	37	c.374	CCDS31202.1	10	.	.	.	.	.	.	.	.	.	.	C	10.95	1.496355	0.26861	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	1.65	1.65	0.23941	.	.	.	.	.	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.31548	0.328	B	0.26094	0.066	T	0.15235	-1.0444	8	0.87932	D	0	.	6.7374	0.23417	0.0:1.0:0.0:0.0	.	125	B9ZVK6	.	L	125	.	ENSP00000363226:S125L	S	+	2	0	C10orf53	50586569	0.002000	0.14202	0.009000	0.14445	0.098000	0.18820	-0.031000	0.12287	1.229000	0.43630	0.491000	0.48974	TCA	C10orf53	-	NULL	ENSG00000178645		0.493	C10orf53-003	KNOWN	basic|CCDS	protein_coding	C10orf53	HGNC	protein_coding	OTTHUMT00000048006.1	-	0	90	0	C	NM_182554		50916563	1	tier1	-	no_errors	ENST00000374112	ensembl	human	known	74_37	missense	16.06	162	31	SNP	0.010	T	T	50916563	C	T	50916563	3	4	99	1	0	0	0	0	1	0	0	0	1611	838	29	3	453	3	C10orf53	10	50916563	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	61875	50916563	84618184	95	28212											
PSAP	5660	genome.wustl.edu	37	chr10	73587809	73587809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccaggcggtcacactcctCcttgacatgttccaccaagg	8	8	9	16	1	1	1	1	1	0	0	4	1	4	1	5	3	0	1	5	3	1	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:73587809C>G	ENST00000394936.3	-	6	829	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	PSAP_ENST00000394934.1_Missense_Mutation_p.E228Q			P07602	SAP_HUMAN	prosaposin	228	Saposin B-type 2. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCACACTCCTCCTTGACATGT	0.582																																																	0													146	105	119					10																	73587809		2203	4300	6503	SO:0001583	missense	0			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"Endogenous ligands"	9498	protein-coding gene	gene with protein product	"variant Gaucher disease and variant metachromatic leukodystrophy"	176801	"sphingolipid activator protein-1"	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.682G>C	10.37:g.73587809C>G	ENSP00000378394:p.Glu228Gln		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB	p.E228Q	ENST00000394936.3	37	c.682	CCDS7311.1	10	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732196	0.48939	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.84370	-1.84;-1.84	5.6	5.6	0.85130	Saposin-like (2);Saposin-like type B, 1 (1);Saposin B (2);	0.428540	0.29745	N	0.011308	D	0.85557	0.5724	M	0.67953	2.075	0.41463	D	0.988056	B	0.25272	0.122	B	0.35312	0.2	T	0.80979	-0.1140	10	0.27082	T	0.32	-10.6703	15.1294	0.72511	0.0:0.8589:0.1411:0.0	.	228	P07602	SAP_HUMAN	Q	228;228;228;228;231;153	ENSP00000378394:E228Q;ENSP00000378392:E228Q	ENSP00000350063:E228Q	E	-	1	0	PSAP	73257815	0.946000	0.32159	0.996000	0.52242	0.913000	0.54294	0.333000	0.19768	2.802000	0.96397	0.542000	0.68232	GAG	PSAP	-	pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	ENSG00000197746		0.582	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSAP	HGNC	protein_coding	OTTHUMT00000048553.1	-	0	38	0	C	NM_002778		73587809	-1	tier1	-	no_errors	ENST00000394934	ensembl	human	known	74_37	missense	20.37	43	11	SNP	1.000	G	G	73587809	C	G	73587809	3	3	99	1	0	0	0	0	1	0	0	0	12685	864	30	5	944	5	PSAP	10	73587809	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	22671246	73587809	61946938	96	28213											
DDIT4	54541	genome.wustl.edu	37	chr10	74034859	74034859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcccttcctccctggcttCagccagtccctgacgctgag	4	11	8	18	1	2	2	1	2	1	0	6	2	5	2	5	1	1	2	5	1	0	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:74034859C>T	ENST00000307365.3	+	3	813	c.612C>T	c.(610-612)ttC>ttT	p.F204F	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	204					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TCCCTGGCTTCAGCCAGTCCC	0.582											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													23	22	22					10																	74034859		2202	4299	6501	SO:0001819	synonymous_variant	0			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"HIF-1 responsive RTP801"	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.612C>T	10.37:g.74034859C>T		1149	Q9H0S3	Silent	SNP	pfam_RTP801-like	p.F204	ENST00000307365.3	37	c.612	CCDS7315.1	10																																																																																			DDIT4	-	pfam_RTP801-like	ENSG00000168209		0.582	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4	HGNC	protein_coding	OTTHUMT00000048577.1	-	0	29	0	C	NM_019058		74034859	1	tier1	-	no_errors	ENST00000307365	ensembl	human	known	74_37	silent	45.95	20	17	SNP	1.000	T	T	74034859	C	T	74034859	2	4	99	1	0	0	0	0	0	0	0	1	4340	825	29	3		3	DDIT4	10	74034859	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	447050	74034859	61499888	97	28214											
HTRA1	5654	genome.wustl.edu	37	chr10	124273783	124273783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaatgatgtcagcgacGtcattaaaagggaaagcacc	14	6	10	11	3	2	1	2	1	0	0	2	3	2	2	3	1	2	1	3	1	4	1	rs149822364	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr10:124273783G>A	ENST00000368984.3	+	9	1479	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	451	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGCGACGTCATTAAAAG	0.483																																																	0								G	ILE/VAL	0,4406		0,0,2203	250	220	230		1351	4.5	1	10	dbSNP_134	230	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HTRA1	NM_002775.4	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	451/481	124273783	4,13002	2203	4300	6503	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"Serine peptidases / Serine peptidases"	9476	protein-coding gene	gene with protein product		602194	"protease, serine, 11 (IGF binding)"	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1351G>A	10.37:g.124273783G>A	ENSP00000357980:p.Val451Ile		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.V451I	ENST00000368984.3	37	c.1351	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	G	12.47	1.949000	0.34377	0.0	4.65E-4	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.27557	1.66;1.66	5.38	4.47	0.54385	PDZ/DHR/GLGF (4);	0.363555	0.28156	N	0.016395	T	0.13329	0.0323	N	0.03224	-0.385	0.27811	N	0.942133	B	0.09022	0.002	B	0.11329	0.006	T	0.11743	-1.0575	10	0.36615	T	0.2	-9.7112	7.8443	0.29417	0.1094:0.1619:0.7286:0.0	.	451	Q92743	HTRA1_HUMAN	I	451;418;192	ENSP00000357980:V451I;ENSP00000412676:V192I	ENSP00000357980:V451I	V	+	1	0	HTRA1	124263773	1.000000	0.71417	0.993000	0.49108	0.545000	0.35147	3.478000	0.53158	1.254000	0.44035	0.655000	0.94253	GTC	HTRA1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000166033		0.483	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	-	0	74	0	G	NM_002775		124273783	1	tier1	rs149822364	no_errors	ENST00000368984	ensembl	human	known	74_37	missense	59.38	13	19	SNP	0.997	A	A	124273783	G	A	124273783	3	1	99	1	0	0	0	0	1	0	0	0	7480	1145	40	1	1385	1	HTRA1	10	124273783	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	50238924	124273783	11260964	98	28215											
USP47	55031	genome.wustl.edu	37	chr11	11958055	11958055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttccaatcttataaacctgGaggtgagcaattttacacta	13	14	6	8	0	1	1	0	1	1	0	2	2	2	2	2	2	3	1	2	2	7	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:11958055G>A	ENST00000399455.2	+	18	2255	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.G692E|USP47_ENST00000339865.5_Missense_Mutation_p.G624E	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	712					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TATAAACCTGGAGGTGAGCAA	0.333																																																	0													63	55	58					11																	11958055		1807	4059	5866	SO:0001583	missense	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"Ubiquitin-specific peptidases"	20076	protein-coding gene	gene with protein product		614460	"Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)", "ubiquitin specific protease 47"			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2135G>A	11.37:g.11958055G>A	ENSP00000382382:p.Gly712Glu		B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G712E	ENST00000399455.2	37	c.2135		11	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336690	0.60963	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.05996	3.38;3.37;3.36	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.10551	0.0258	L	0.57536	1.79	0.80722	D	1	B;P	0.36010	0.397;0.532	B;B	0.37833	0.189;0.259	T	0.22312	-1.0220	10	0.18276	T	0.48	.	18.6844	0.91558	0.0:0.0:1.0:0.0	.	692;624	E9PM46;Q96K76-2	.;.	E	624;692;712	ENSP00000339957:G624E;ENSP00000433146:G692E;ENSP00000382382:G712E	ENSP00000339957:G624E	G	+	2	0	USP47	11914631	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.102000	0.94226	2.495000	0.84180	0.655000	0.94253	GGA	USP47	-	NULL	ENSG00000170242		0.333	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2		0	15	0	G	NM_017944		11958055	1			no_errors	ENST00000399455	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A	A	11958055	G	A	11958055	3	1	99	1	0	0	0	0	1	0	0	0	17127	1174	41	3	1933	3	USP47	11	11958055	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		11958055	123048461	99	28216											
HTATIP2	10553	genome.wustl.edu	37	chr11	20388759	20388759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaagttggatgactacGcctctgcctttcaaggtcat	10	13	9	9	1	3	2	2	2	1	0	3	3	3	3	2	2	2	1	2	2	4	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:20388759G>T	ENST00000451739.2	+	2	676	c.235G>T	c.(235-237)Gcc>Tcc	p.A79S	HTATIP2_ENST00000532505.1_Missense_Mutation_p.A79S|HTATIP2_ENST00000530266.1_Missense_Mutation_p.A79S|HTATIP2_ENST00000443524.2_Missense_Mutation_p.A79S|HTATIP2_ENST00000531058.1_Missense_Mutation_p.A79S|HTATIP2_ENST00000421577.2_Missense_Mutation_p.A79S|HTATIP2_ENST00000419348.2_Missense_Mutation_p.A113S|HTATIP2_ENST00000532081.1_Missense_Mutation_p.A79S	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGATGACTACGCCTCTGCCTT	0.453																																																	0													233	222	226					11																	20388759		2203	4300	6503	SO:0001583	missense	0			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Atypical members"	16637	protein-coding gene	gene with protein product	"Tat-interacting protein (30kD)", "short chain dehydrogenase/reductase family 44U, member 1"	605628	"HIV-1 Tat interactive protein 2, 30 kDa"			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.235G>T	11.37:g.20388759G>T	ENSP00000394259:p.Ala79Ser			Missense_Mutation	SNP	pfam_Semialdehyde_DH_NAD-bd	p.A113S	ENST00000451739.2	37	c.337	CCDS7852.1	11	.	.	.	.	.	.	.	.	.	.	G	9.561	1.118571	0.20877	.	.	ENSG00000109854	ENST00000530266;ENST00000421577;ENST00000443524;ENST00000419348;ENST00000451739;ENST00000532505;ENST00000532081;ENST00000531058	T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.71	2.55	0.30701	Semialdehyde dehydrogenase, NAD-binding (1);NAD(P)-binding domain (1);	0.305787	0.40222	N	0.001147	T	0.20210	0.0486	N	0.21583	0.68	0.09310	N	0.999998	B;P;B	0.41978	0.002;0.767;0.089	B;B;B	0.43123	0.023;0.409;0.096	T	0.05818	-1.0862	10	0.36615	T	0.2	-20.2686	7.0645	0.25143	0.0869:0.0:0.6136:0.2995	.	79;79;113	Q9BUP3;Q9BUP3-2;Q9BUP3-3	HTAI2_HUMAN;.;.	S	79;79;79;113;79;79;79;79	ENSP00000436548:A79S;ENSP00000397752:A79S;ENSP00000387876:A79S;ENSP00000392985:A113S;ENSP00000394259:A79S;ENSP00000432338:A79S;ENSP00000432107:A79S;ENSP00000436729:A79S	ENSP00000392985:A113S	A	+	1	0	HTATIP2	20345335	0.190000	0.23276	0.009000	0.14445	0.133000	0.20885	1.418000	0.34782	1.424000	0.47217	0.555000	0.69702	GCC	HTATIP2	-	pfam_Semialdehyde_DH_NAD-bd	ENSG00000109854		0.453	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	HGNC	protein_coding	OTTHUMT00000387445.2		0	28	0	G	NM_001098521		20388759	1			no_errors	ENST00000419348	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.033	T	T	20388759	G	T	20388759	3	4	99	1	0	0	0	0	1	0	0	0	7459	1087	38	2	347	2	HTATIP2	11	20388759	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	8430704	20388759	114617757	100	28217											
SLC6A5	9152	genome.wustl.edu	37	chr11	20623033	20623033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcaacgcgctgcactgtaAgatcccttttctgcgaggcc	7	9	11	14	4	1	1	0	0	1	1	2	2	2	1	2	2	3	4	2	2	2	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:20623033A>G	ENST00000525748.1	+	2	635	c.362A>G	c.(361-363)aAg>aGg	p.K121R		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	121					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGCACTGTAAGATCCCTTTT	0.677																																																	0													52	52	52					11																	20623033		2203	4300	6503	SO:0001583	missense	0			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"Solute carriers"	11051	protein-coding gene	gene with protein product	"glycine transporter 2"	604159	"solute carrier family 6 (neurotransmitter transporter, glycine), member 5"	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.362A>G	11.37:g.20623033A>G	ENSP00000434364:p.Lys121Arg		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.K121R	ENST00000525748.1	37	c.362	CCDS7854.1	11	.	.	.	.	.	.	.	.	.	.	A	9.042	0.989909	0.18966	.	.	ENSG00000165970	ENST00000525748	T	0.72615	-0.67	5.7	1.64	0.23874	.	1.562850	0.03004	N	0.148597	T	0.49762	0.1576	N	0.11560	0.145	0.28744	N	0.901837	B	0.02656	0.0	B	0.01281	0.0	T	0.40194	-0.9576	10	0.16420	T	0.52	.	4.9085	0.13811	0.6346:0.0:0.2293:0.1361	.	121	Q9Y345	SC6A5_HUMAN	R	121	ENSP00000434364:K121R	ENSP00000298923:K121R	K	+	2	0	SLC6A5	20579609	1.000000	0.71417	0.999000	0.59377	0.414000	0.31173	1.599000	0.36751	0.421000	0.25980	0.379000	0.24179	AAG	SLC6A5	-	NULL	ENSG00000165970		0.677	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A5	HGNC	protein_coding	OTTHUMT00000387497.2	-	0	27	0	A	NM_004211		20623033	1	tier1	-	no_errors	ENST00000525748	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.986	G	G	20623033	A	G	20623033	3	3	99	1	0	0	0	0	1	0	0	0	14732	72	3	4	368	4	SLC6A5	11	20623033	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	234274	20623033	114383483	101	28218											
FANCF	2188	genome.wustl.edu	37	chr11	22647031	22647031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagttgctgcaccaggtggTaacgagctgcatccccgagg	9	7	14	11	2	0	1	0	0	0	1	1	3	1	1	3	3	5	6	3	3	1	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:22647031T>C	ENST00000327470.3	-	1	356	c.326A>G	c.(325-327)tAc>tGc	p.Y109C	AC103801.2_ENST00000428556.2_5'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	109					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						CACCAGGTGGTAACGAGCTGC	0.677			"N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Fanconi anaemia F	11	11p15	2188	"Fanconi anemia, complementation group F"		L	0													67	81	76					11																	22647031		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"Fanconi anemia, complementation groups"	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.326A>G	11.37:g.22647031T>C	ENSP00000330875:p.Tyr109Cys	757	Q52LM0	Missense_Mutation	SNP	NULL	p.Y109C	ENST00000327470.3	37	c.326	CCDS7857.1	11	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079120	0.36662	.	.	ENSG00000183161	ENST00000327470	T	0.30182	1.54	5.43	-4.3	0.03710	.	0.627416	0.15155	U	0.277518	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B	0.29835	0.258	B	0.40565	0.333	T	0.30327	-0.9982	10	0.59425	D	0.04	-0.4274	16.8877	0.86079	0.0:0.7416:0.0:0.2584	.	109	Q9NPI8	FANCF_HUMAN	C	109	ENSP00000330875:Y109C	ENSP00000330875:Y109C	Y	-	2	0	FANCF	22603607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.022000	0.13511	-1.035000	0.03291	-0.250000	0.11733	TAC	FANCF	-	NULL	ENSG00000183161		0.677	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCF	HGNC	protein_coding	OTTHUMT00000387712.2	-	0	47	0	T	NM_022725		22647031	-1	tier1	-	no_errors	ENST00000327470	ensembl	human	known	74_37	missense	60.61	13	20	SNP	0.000	C	C	22647031	T	C	22647031	3	2	99	1	0	0	0	0	1	0	0	0	5689	1638	57	4	802	4	FANCF	11	22647031	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	2023998	22647031	112359485	102	28219											
OR4C16	219428	genome.wustl.edu	37	chr11	55339985	55339985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggacatctgtaagcccCtgcactacatgaccatcata	12	10	7	12	0	2	1	1	1	1	0	2	2	2	2	3	1	3	2	3	1	3	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:55339985C>T	ENST00000314634.3	+	1	382	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTGTAAGCCCCTGCACTACAT	0.498																																																	0													185	176	179					11																	55339985		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"GPCR / Class A : Olfactory receptors"	15172	protein-coding gene	gene with protein product			"olfactory receptor, family 4, subfamily C, member 16"				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.382C>T	11.37:g.55339985C>T			Q6IEV8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L128	ENST00000314634.3	37	c.382	CCDS31502.1	11																																																																																			OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181935		0.498	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	-	0	52	0	C	NM_001004701		55339985	1	tier1	-	no_errors	ENST00000314634	ensembl	human	known	74_37	silent	67.24	19	39	SNP	0.839	T	T	55339985	C	T	55339985	2	4	99	1	0	0	0	0	0	0	0	1	11088	680	24	3		3	OR4C16	11	55339985	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	32692954	55339985	79666531	103	28220											
OR9G1	390174	genome.wustl.edu	37	chr11	56468326	56468326	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggtggctttattaacTcttcaatcatcaccaagaaa	13	14	6	8	0	4	1	3	0	1	1	4	1	4	1	1	2	1	1	1	2	5	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:56468326T>C	ENST00000312153.1	+	1	463	c.463T>C	c.(463-465)Tct>Cct	p.S155P		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTTTATTAACTCTTCAATCAT	0.458																																																	0													192	181	185					11																	56468326		2201	4296	6497	SO:0001583	missense	0			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"GPCR / Class A : Olfactory receptors"	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.463T>C	11.37:g.56468326T>C	ENSP00000309012:p.Ser155Pro		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S155P	ENST00000312153.1	37	c.463	CCDS31536.1	11	.	.	.	.	.	.	.	.	.	.	T	11.91	1.778519	0.31502	.	.	ENSG00000174914	ENST00000312153	T	0.46063	0.88	4.52	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.677681	0.13601	N	0.375861	T	0.52565	0.1742	M	0.75264	2.295	0.09310	N	1	P	0.49961	0.93	P	0.57720	0.826	T	0.45512	-0.9256	10	0.87932	D	0	-9.7503	6.4433	0.21861	0.2354:0.0:0.3176:0.4471	.	155	Q8NH87	OR9G1_HUMAN	P	155	ENSP00000309012:S155P	ENSP00000309012:S155P	S	+	1	0	OR9G1	56224902	0.000000	0.05858	0.829000	0.32907	0.259000	0.26198	-1.975000	0.01498	-0.018000	0.14079	-0.507000	0.04495	TCT	OR9G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174914		0.458	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9G1	HGNC	protein_coding	OTTHUMT00000393253.1	-	0	114	0	T	NM_001005213		56468326	1	tier1	-	no_errors	ENST00000312153	ensembl	human	known	74_37	missense	15.74	91	17	SNP	0.000	C	C	56468326	T	C	56468326	3	2	99	1	0	0	0	0	1	0	0	0	11289	1551	54	4	465	4	OR9G1	11	56468326	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	1128341	56468326	78538190	104	28221											
FAM111A	63901	genome.wustl.edu	37	chr11	58920609	58920609	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcttgtgctgtgatccctCagggtcagcgagcaaagaaa	11	9	12	9	1	2	2	2	1	0	1	3	3	3	2	1	1	4	3	1	1	2	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:58920609C>T	ENST00000528737.1	+	5	4286	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	FAM111A_ENST00000420244.1_Nonsense_Mutation_p.Q490*|FAM111A_ENST00000531147.1_Nonsense_Mutation_p.Q490*|FAM111A_ENST00000361723.3_Nonsense_Mutation_p.Q490*|FAM111A_ENST00000533703.1_Nonsense_Mutation_p.Q490*			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	490	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TGTGATCCCTCAGGGTCAGCG	0.393																																																	0													97	100	99					11																	58920609		2201	4295	6496	SO:0001587	stop_gained	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1468C>T	11.37:g.58920609C>T	ENSP00000434435:p.Gln490*		A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Nonsense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.Q490*	ENST00000528737.1	37	c.1468	CCDS7973.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.157542	0.94686	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	.	.	.	5.04	5.04	0.67666	.	0.404159	0.24801	N	0.035487	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-6.0154	11.8894	0.52620	0.0:0.8245:0.1755:0.0	.	.	.	.	X	490	.	ENSP00000355264:Q490X	Q	+	1	0	FAM111A	58677185	0.000000	0.05858	0.243000	0.24186	0.007000	0.05969	0.361000	0.20267	2.791000	0.96007	0.655000	0.94253	CAG	FAM111A	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	ENSG00000166801		0.393	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	-	0	22	0	C	NM_022074		58920609	1	tier1	-	no_errors	ENST00000361723	ensembl	human	known	74_37	nonsense	33.33	10	5	SNP	0.025	T	T	58920609	C	T	58920609	4	4	99	1	0	0	0	0	0	1	0	0	5418	827	29	3	1474	3	FAM111A	11	58920609	Nonsense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	2452283	58920609	76085907	105	28222											
NRXN2	9379	genome.wustl.edu	37	chr11	64428408	64428408	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaggccccggaggtctcGgctacgcccatctatgaaga	9	6	12	14	3	2	2	0	1	2	1	3	3	2	3	4	4	2	1	4	4	3	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:64428408G>A	ENST00000377551.1	-	9	2213	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Nonsense_Mutation_p.R661*|NRXN2_ENST00000265459.6_Nonsense_Mutation_p.R668*|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Nonsense_Mutation_p.R637*			Q9P2S2	NRX2A_HUMAN	neurexin 2	668	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGGAGGTCTCGGCTACGCCCA	0.687																																																	0													37	36	36					11																	64428408		2201	4297	6498	SO:0001587	stop_gained	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2002C>T	11.37:g.64428408G>A	ENSP00000366774:p.Arg668*		A7E2C1|Q9Y2D6	Nonsense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R668*	ENST00000377551.1	37	c.2002	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.294943	0.98747	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	.	.	.	4.52	4.52	0.55395	.	0.000000	0.37857	U	0.001906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.9422	0.41587	0.0:0.0:0.7974:0.2026	.	.	.	.	X	668;637;668;637;661	.	ENSP00000265459:R668X	R	-	1	2	NRXN2	64184984	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	2.143000	0.42187	2.355000	0.79922	0.555000	0.69702	CGA	NRXN2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000110076		0.687	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0	14	0	G	NM_015080		64428408	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	nonsense	31.58	13	6	SNP	1.000	A	A	64428408	G	A	64428408	4	1	99	1	0	0	0	0	0	1	0	0	10705	1124	39	1	3461	1	NRXN2	11	64428408	Nonsense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	5507799	64428408	70578108	106	28223											
PYGM	5837	genome.wustl.edu	37	chr11	64519395	64519395	+	Splice_Site	DEL	C	C	-																															ggtagagtggctgccactcaCggttgtacagggtgatgaca																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:64519395delC	ENST00000164139.3	-	14	2167		c.e14+1		PYGM_ENST00000462303.1_Splice_Site|PYGM_ENST00000377432.3_Splice_Site	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGCCACTCACGGTTGTACAG	0.522																																																	0			GRCh37	CS941537	PYGM	S							106	96	99					11																	64519395		2201	4297	6498	SO:0001630	splice_region_variant	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1768+1G>-	11.37:g.64519395delC			A0AVK1|A6NDY6	Splice_Site	DEL	-	e14+1	ENST00000164139.3	37	c.1768+1	CCDS8079.1	11																																																																																			PYGM	-	-	ENSG00000068976		0.522	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2		0	119	0	C	NM_005609	Intron	64519395	-1			no_errors	ENST00000164139	ensembl	human	known	74_37	splice_site_del	8.33	88	8	DEL	1.000	0	-	64519395	C	-	64519395	8	5	99	1	0	1	0	1	0	0	1	0	12907	550	19	0	787	0	PYGM	11	64519395	Splice_Site	DEL	C	TCGA-LN-A49L-01A-11D-A247-09	90987	64519395	70487121	107	28224											
CFL1	1072	genome.wustl.edu	37	chr11	65623715	65623715	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacagccacaccggaggccTaggagacatgccacgtatac	13	4	11	13	2	0	2	0	0	0	2	0	4	0	3	4	3	3	1	4	3	3	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:65623715T>A	ENST00000525451.2	-	3	719		c.e3-2		CFL1_ENST00000527344.1_Splice_Site|CFL1_ENST00000531407.1_Splice_Site|CFL1_ENST00000308162.5_Splice_Site|CFL1_ENST00000524553.1_Splice_Site|CFL1_ENST00000531413.1_Splice_Site|CFL1_ENST00000534769.1_Splice_Site			P23528	COF1_HUMAN	cofilin 1 (non-muscle)						actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		ACCGGAGGCCTAGGAGACATG	0.517																																					Esophageal Squamous(90;820 1366 3932 32351 42291)												0													62	60	60					11																	65623715		2201	4297	6498	SO:0001630	splice_region_variant	0			X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.4-2A>T	11.37:g.65623715T>A			B3KUQ1|Q53Y87|Q9UCA2	Splice_Site	SNP	-	e2-2	ENST00000525451.2	37	c.4-2	CCDS8114.1	11	.	.	.	.	.	.	.	.	.	.	T	15.12	2.738919	0.49045	.	.	ENSG00000172757	ENST00000525451;ENST00000308162;ENST00000534769;ENST00000532134;ENST00000526975	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8546	0.46792	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CFL1	65380291	1.000000	0.71417	0.899000	0.35326	0.634000	0.38068	7.694000	0.84235	1.888000	0.54679	0.459000	0.35465	.	CFL1	-	-	ENSG00000172757		0.517	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFL1	HGNC	protein_coding	OTTHUMT00000390701.3	-	0	26	0	T	NM_005507	Intron	65623715	-1	tier1	-	no_errors	ENST00000308162	ensembl	human	known	74_37	splice_site	25.00	24	8	SNP	0.997	A	A	65623715	T	A	65623715	5	1	99	1	0	0	0	0	0	0	1	0	3297	1536	53	5	510	5	CFL1	11	65623715	Splice_Site	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	1104320	65623715	69382801	108	28225											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103031676	103031676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggtattaacagtgtttGctttgatgagaaatcaaaac	14	14	8	5	0	2	2	2	2	0	1	2	3	2	2	0	1	3	3	0	1	5	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:103031676G>T	ENST00000375735.2	+	29	4538	c.4394G>T	c.(4393-4395)tGc>tTc	p.C1465F	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C1465F|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1465	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AACAGTGTTTGCTTTGATGAG	0.269																																																	0													26	27	27					11																	103031676		1778	3983	5761	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4394G>T	11.37:g.103031676G>T	ENSP00000364887:p.Cys1465Phe		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C1465F	ENST00000375735.2	37	c.4394	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	11.41	1.632026	0.29068	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60548	0.18;0.18	5.33	5.33	0.75918	Dynein heavy chain, domain-2 (1);	0.565553	0.14589	U	0.310377	T	0.50205	0.1602	L	0.39898	1.24	0.32612	N	0.524495	B;B	0.26400	0.148;0.122	B;B	0.19391	0.025;0.024	T	0.59674	-0.7410	10	0.59425	D	0.04	.	14.077	0.64895	0.0:0.0:0.85:0.15	.	1465;1465	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	1465	ENSP00000364887:C1465F;ENSP00000381167:C1465F	ENSP00000364887:C1465F	C	+	2	0	DYNC2H1	102536886	1.000000	0.71417	0.998000	0.56505	0.867000	0.49689	1.687000	0.37680	2.652000	0.90054	0.467000	0.42956	TGC	DYNC2H1	-	pfam_Dynein_heavy_dom-2	ENSG00000187240		0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	27	0	G	XM_370652		103031676	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.998	T	T	103031676	G	T	103031676	3	4	99	1	0	0	0	0	1	0	0	0	4860	1319	46	3	4508	3	DYNC2H1	11	103031676	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	37407961	103031676	31974840	109	28226											
NPAT	4863	genome.wustl.edu	37	chr11	108031840	108031840	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccatatttacactgttttCacttcctgtttcactggcag	8	16	6	11	0	2	0	2	0	0	0	3	0	3	0	2	1	2	3	2	1	2	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:108031840C>G	ENST00000278612.8	-	17	4078	c.3973G>C	c.(3973-3975)Gaa>Caa	p.E1325Q		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1325	Required for acceleration of G1 phase.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACACTGTTTTCACTTCCTGTT	0.468																																																	0													91	91	91					11																	108031840		1898	4115	6013	SO:0001583	missense	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.3973G>C	11.37:g.108031840C>G	ENSP00000278612:p.Glu1325Gln		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.E1325Q	ENST00000278612.8	37	c.3973	CCDS41710.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616563	0.87359	.	.	ENSG00000149308	ENST00000278612	T	0.15139	2.45	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44832	-0.9302	10	0.87932	D	0	-19.9927	18.9451	0.92620	0.0:1.0:0.0:0.0	.	1325	Q14207	NPAT_HUMAN	Q	1325	ENSP00000278612:E1325Q	ENSP00000278612:E1325Q	E	-	1	0	NPAT	107537050	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.211000	0.77933	2.559000	0.86315	0.555000	0.69702	GAA	NPAT	-	NULL	ENSG00000149308		0.468	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	-	0	47	0	C	NM_002519		108031840	-1	tier1	-	no_errors	ENST00000278612	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	G	G	108031840	C	G	108031840	3	3	99	1	0	0	0	0	1	0	0	0	10605	835	29	5	318	5	NPAT	11	108031840	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	5000164	108031840	26974676	110	28227											
GRIK4	2900	genome.wustl.edu	37	chr11	120776146	120776146	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttggggatggcgtgtacGgcgttcccgaggccaacggc	5	8	18	10	5	0	0	0	0	0	0	1	2	1	1	2	7	2	3	2	7	2	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:120776146G>C	ENST00000527524.2	+	13	1707	c.1420G>C	c.(1420-1422)Ggc>Cgc	p.G474R	GRIK4_ENST00000438375.2_Missense_Mutation_p.G474R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	474					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		TGGCGTGTACGGCGTTCCCGA	0.607																																																	0													133	131	132					11																	120776146		2203	4299	6502	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1420G>C	11.37:g.120776146G>C	ENSP00000435648:p.Gly474Arg		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G474R	ENST00000527524.2	37	c.1420	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.130299	0.94473	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.93076	-3.16;-3.16	5.33	5.33	0.75918	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	H	0.97940	4.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99679	1.0998	10	0.87932	D	0	.	19.0102	0.92870	0.0:0.0:1.0:0.0	.	474;474	A6H8K8;Q16099	.;GRIK4_HUMAN	R	474	ENSP00000435648:G474R;ENSP00000404063:G474R	ENSP00000404063:G474R	G	+	1	0	GRIK4	120281356	1.000000	0.71417	0.954000	0.39281	0.927000	0.56198	9.869000	0.99810	2.473000	0.83533	0.655000	0.94253	GGC	GRIK4	-	pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	ENSG00000149403		0.607	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0	17	0	G	NM_014619		120776146	1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	missense	53.33	7	8	SNP	1.000	C	C	120776146	G	C	120776146	3	2	99	1	0	0	0	0	1	0	0	0	6803	1116	39	5	1462	5	GRIK4	11	120776146	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	12744306	120776146	14230370	111	28228											
ROBO3	64221	genome.wustl.edu	37	chr11	124743663	124743663	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctccctctcagccagtGgtcactgagatcaccaagaa	10	7	11	13	0	3	2	3	1	1	2	5	3	4	2	3	3	1	1	3	3	2	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:124743663G>C	ENST00000397801.1	+	11	1881	c.1689G>C	c.(1687-1689)gtG>gtC	p.V563V	ROBO3_ENST00000538940.1_Silent_p.V541V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	563	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCAGCCAGTGGTCACTGAGA	0.537																																																	0													38	40	40					11																	124743663		1874	4096	5970	SO:0001819	synonymous_variant	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13433	protein-coding gene	gene with protein product		608630	"roundabout (axon guidance receptor, Drosophila) homolog 3", "horizontal gaze palsy with progressive scoliosis"	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1689G>C	11.37:g.124743663G>C				Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V563	ENST00000397801.1	37	c.1689	CCDS44755.1	11																																																																																			ROBO3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154134		0.537	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	-	0	20	0	G	XM_370663		124743663	1	tier1	-	no_errors	ENST00000397801	ensembl	human	known	74_37	silent	38.10	13	8	SNP	0.829	C	C	124743663	G	C	124743663	2	2	99	1	0	0	0	0	0	0	0	1	13560	1335	47	5		5	ROBO3	11	124743663	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	3967517	124743663	10262853	112	28229											
JAM3	83700	genome.wustl.edu	37	chr11	134014718	134014718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccctgtctgtagagtgccGaaggctgtaccagtaggcaa	10	8	12	11	1	1	1	0	0	1	1	1	2	1	1	4	2	2	5	4	2	5	3	rs371009569		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr11:134014718G>A	ENST00000299106.4	+	5	600	c.441G>A	c.(439-441)ccG>ccA	p.P147P	JAM3_ENST00000441717.3_Silent_p.P96P|JAM3_ENST00000529443.2_Silent_p.P192P|JAM3_ENST00000524969.1_3'UTR			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	147	Ig-like C2-type.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|establishment of cell polarity (GO:0030010)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|myelination (GO:0042552)|myeloid progenitor cell differentiation (GO:0002318)|neutrophil homeostasis (GO:0001780)|regulation of actin cytoskeleton organization by cell-cell adhesion (GO:0090138)|regulation of neutrophil chemotaxis (GO:0090022)|spermatid development (GO:0007286)|transmission of nerve impulse (GO:0019226)	cell-cell contact zone (GO:0044291)|desmosome (GO:0030057)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	integrin binding (GO:0005178)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GTAGAGTGCCGAAGGCTGTAC	0.537																																																	0								G	,	1,4401	2.1+/-5.4	0,1,2200	90	87	88		288,441	-10.2	0	11		88	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	JAM3	NM_001205329.1,NM_032801.4	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	96/260,147/311	134014718	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	0			AF356518	CCDS8494.1, CCDS55799.1, CCDS8494.2	11q25	2013-01-29			ENSG00000166086	ENSG00000166086		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15532	protein-coding gene	gene with protein product		606871					Standard	NM_032801		Approved	JAM-C, JAMC	uc001qhb.3	Q9BX67	OTTHUMG00000167130	ENST00000299106.4:c.441G>A	11.37:g.134014718G>A			B3KWG9|Q8WWL8|Q96FL1	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P192	ENST00000299106.4	37	c.576	CCDS8494.2	11	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.983204	0.02180	2.27E-4	0.0	ENSG00000166086	ENST00000534549;ENST00000529443	.	.	.	5.1	-10.2	0.00374	.	.	.	.	.	T	0.43277	0.1240	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51779	-0.8662	4	.	.	.	.	6.4721	0.22013	0.2108:0.5278:0.1352:0.1263	.	.	.	.	K	92;101	.	.	E	+	1	0	JAM3	133519928	0.000000	0.05858	0.004000	0.12327	0.021000	0.10359	-3.451000	0.00466	-2.335000	0.00629	-0.778000	0.03378	GAA	JAM3	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000166086		0.537	JAM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	JAM3	HGNC	protein_coding	OTTHUMT00000393303.4	-	0	46	0	G	NM_032801		134014718	1	tier1	-	no_errors	ENST00000529443	ensembl	human	known	74_37	silent	35.48	20	11	SNP	0.081	A	A	134014718	G	A	134014718	2	1	99	1	0	0	0	0	0	0	0	1	7971	1045	37	1		1	JAM3	11	134014718	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	9271055	134014718	991798	113	28230											
ABCC9	10060	genome.wustl.edu	37	chr12	21995350	21995350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cataagaaatcatcccaatgGcagacaggcagagcagtgtt	15	7	10	9	0	1	3	1	0	0	3	2	3	2	3	1	2	1	4	1	2	3	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:21995350G>T	ENST00000261201.4	-	27	3370	c.3371C>A	c.(3370-3372)gCc>gAc	p.A1124D	ABCC9_ENST00000345162.2_Missense_Mutation_p.A1088D|ABCC9_ENST00000261200.4_Missense_Mutation_p.A1124D|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1124	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	CATCCCAATGGCAGACAGGCA	0.443																																																	0													167	145	152					12																	21995350		2203	4300	6503	SO:0001583	missense	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3371C>A	12.37:g.21995350G>T	ENSP00000261201:p.Ala1124Asp		O60707	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.A1124D	ENST00000261201.4	37	c.3371	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904081	0.92035	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.31	5.31	0.75309	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	M	0.91818	3.245	0.80722	D	1	P;P	0.47962	0.851;0.903	P;P	0.59424	0.857;0.7	D	0.96523	0.9387	10	0.87932	D	0	-13.6272	19.1722	0.93583	0.0:0.0:1.0:0.0	.	1124;1124	O60706;O60706-2	ABCC9_HUMAN;.	D	1124;751;1124;1088	ENSP00000261200:A1124D;ENSP00000440521:A751D;ENSP00000261201:A1124D;ENSP00000261202:A1088D	ENSP00000261200:A1124D	A	-	2	0	ABCC9	21886617	1.000000	0.71417	0.994000	0.49952	0.756000	0.42949	7.725000	0.84808	2.763000	0.94921	0.563000	0.77884	GCC	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000069431		0.443	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	42	0	G	NM_005691		21995350	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T	T	21995350	G	T	21995350	3	4	99	1	0	0	0	0	1	0	0	0	59	1203	42	3	1468	3	ABCC9	12	21995350	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		21995350	111856545	114	28231											
CAPRIN2	65981	genome.wustl.edu	37	chr12	30873757	30873757	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttacctcaggagtctcTgaggtcataaactctgtttc	8	16	7	10	0	5	1	2	1	3	0	7	2	5	2	1	2	2	1	1	2	3	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:30873757T>A	ENST00000298892.5	-	12	2886	c.2136A>T	c.(2134-2136)tcA>tcT	p.S712S	CAPRIN2_ENST00000251071.5_Silent_p.S712S|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000308433.5_Silent_p.S379S|CAPRIN2_ENST00000417045.1_Silent_p.S712S	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGAGTCTCTGAGGTCATAA	0.378																																																	0													87	90	89					12																	30873757		2203	4300	6503	SO:0001819	synonymous_variant	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2136A>T	12.37:g.30873757T>A				Silent	SNP	pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.S712	ENST00000298892.5	37	c.2136	CCDS8720.1	12																																																																																			CAPRIN2	-	pfam_Caprin-1_C	ENSG00000110888		0.378	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAPRIN2	HGNC	protein_coding	OTTHUMT00000402778.1	-	0	25	0	T	NM_023925		30873757	-1	tier1	-	no_errors	ENST00000251071	ensembl	human	known	74_37	silent	23.08	30	9	SNP	0.998	A	A	30873757	T	A	30873757	2	1	99	1	0	0	0	0	0	0	0	1	2643	1567	55	5		5	CAPRIN2	12	30873757	Silent	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	8878407	30873757	102978138	115	28232											
VDR	7421	genome.wustl.edu	37	chr12	48238609	48238609	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctggaaggagaggcagcGgtactgcttggagtgctcct	8	8	17	8	1	0	1	0	0	0	1	1	4	1	3	1	6	4	5	1	6	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:48238609G>C	ENST00000395324.2	-	10	1472	c.1204C>G	c.(1204-1206)Cgc>Ggc	p.R402G	VDR_ENST00000550325.1_Missense_Mutation_p.R452G|VDR_ENST00000229022.3_Missense_Mutation_p.R402G|VDR_ENST00000535672.1_Missense_Mutation_p.R370G|VDR_ENST00000549336.1_Missense_Mutation_p.R402G			P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	402	Ligand-binding.				bile acid signaling pathway (GO:0038183)|calcium ion transport (GO:0006816)|cell morphogenesis (GO:0000902)|cellular calcium ion homeostasis (GO:0006874)|decidualization (GO:0046697)|gene expression (GO:0010467)|intestinal absorption (GO:0050892)|lactation (GO:0007595)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of calcidiol 1-monooxygenase activity (GO:0060558)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin D receptor signaling pathway (GO:0070561)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcitriol binding (GO:1902098)|calcitriol receptor activity (GO:0008434)|DNA binding (GO:0003677)|lithocholic acid binding (GO:1902121)|lithocholic acid receptor activity (GO:0038186)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Alfacalcidol(DB01436)|Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GAGAGGCAGCGGTACTGCTTG	0.607																																																	0													105	95	99					12																	48238609		2203	4300	6503	SO:0001583	missense	0			J03258	CCDS8757.1, CCDS55820.1	12q12-q14	2014-06-13				ENSG00000111424		"Nuclear hormone receptors"	12679	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 163"	601769				1662663	Standard	NM_001017536		Approved	NR1I1, PPP1R163	uc001rql.3	P11473		ENST00000395324.2:c.1204C>G	12.37:g.48238609G>C	ENSP00000378734:p.Arg402Gly		B2R5Q1|G3V1V9|Q5PSV3	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R402G	ENST00000395324.2	37	c.1204	CCDS8757.1	12	.	.	.	.	.	.	.	.	.	.	g	24.6	4.554378	0.86231	.	.	ENSG00000111424	ENST00000395324;ENST00000229022;ENST00000549336;ENST00000550325;ENST00000535672	D;D;D;D;D	0.93604	-3.24;-3.24;-3.24;-3.25;-3.18	4.26	4.26	0.50523	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.062576	0.64402	D	0.000003	D	0.95408	0.8509	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.77557	0.942;0.984;0.99	D	0.95704	0.8752	10	0.66056	D	0.02	.	15.7681	0.78143	0.0:0.0:1.0:0.0	.	370;402;452	B4DRV7;P11473;G3V1V9	.;VDR_HUMAN;.	G	402;402;402;452;370	ENSP00000378734:R402G;ENSP00000229022:R402G;ENSP00000449573:R402G;ENSP00000447173:R452G;ENSP00000442145:R370G	ENSP00000229022:R402G	R	-	1	0	VDR	46524876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.389000	0.97243	2.380000	0.81148	0.457000	0.33378	CGC	VDR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000111424		0.607	VDR-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	VDR	HGNC	protein_coding	OTTHUMT00000406433.1	-	0	74	0	G			48238609	-1	tier1	-	no_errors	ENST00000229022	ensembl	human	known	74_37	missense	17.02	78	16	SNP	1.000	C	C	48238609	G	C	48238609	3	2	99	1	0	0	0	0	1	0	0	0	17198	1116	39	5	83	5	VDR	12	48238609	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	17364852	48238609	85613286	116	28233											
KRT73	319101	genome.wustl.edu	37	chr12	53009995	53009995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcgcacgctcctcagctccGagtccagcctcaccctgtcc	5	7	8	21	4	2	0	2	0	0	0	6	1	6	0	6	0	2	3	6	0	0	0	rs200530085	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:53009995G>C	ENST00000305748.3	-	2	651	c.617C>G	c.(616-618)tCg>tGg	p.S206W	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	206	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTCAGCTCCGAGTCCAGCCT	0.607																																																	0													165	148	154					12																	53009995		2203	4300	6503	SO:0001583	missense	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.617C>G	12.37:g.53009995G>C	ENSP00000307014:p.Ser206Trp		Q32MB2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S206W	ENST00000305748.3	37	c.617	CCDS8834.1	12	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424691	0.43020	.	.	ENSG00000186049	ENST00000305748	D	0.89196	-2.48	5.07	5.07	0.68467	Filament (1);	0.000000	0.46145	D	0.000304	D	0.95943	0.8679	H	0.95504	3.68	0.19575	N	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.90355	0.4369	10	0.87932	D	0	.	14.054	0.64756	0.0:0.0:0.7446:0.2554	.	206	Q86Y46	K2C73_HUMAN	W	206	ENSP00000307014:S206W	ENSP00000307014:S206W	S	-	2	0	KRT73	51296262	0.000000	0.05858	0.966000	0.40874	0.463000	0.32649	0.675000	0.25232	2.739000	0.93911	0.655000	0.94253	TCG	KRT73	-	pfam_IF	ENSG00000186049		0.607	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT73	HGNC	protein_coding	OTTHUMT00000405700.1	-	0	58	0	G	NM_175068		53009995	-1	tier1	-	no_errors	ENST00000305748	ensembl	human	known	74_37	missense	16.04	89	17	SNP	0.041	C	C	53009995	G	C	53009995	3	2	99	1	0	0	0	0	1	0	0	0	8513	1059	37	5	1037	5	KRT73	12	53009995	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	4771386	53009995	80841900	117	28234											
KRT2	3849	genome.wustl.edu	37	chr12	53045389	53045389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgagagttttgatctgctCacgctcttgggccttcacat	6	15	10	10	1	4	2	2	2	2	1	4	3	4	2	1	1	1	4	1	1	0	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:53045389C>T	ENST00000309680.3	-	1	559	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	180	Coil 1A.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTGATCTGCTCACGCTCTTGG	0.522																																																	0													152	143	146					12																	53045389		2203	4300	6503	SO:0001583	missense	0				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.538G>A	12.37:g.53045389C>T	ENSP00000310861:p.Glu180Lys		Q4VAQ2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E180K	ENST00000309680.3	37	c.538	CCDS8835.1	12	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489445	0.84962	.	.	ENSG00000172867	ENST00000309680	T	0.77750	-1.12	5.54	4.65	0.58169	Filament (1);	.	.	.	.	D	0.89812	0.6823	M	0.90145	3.09	0.44745	D	0.997748	D	0.89917	1.0	D	0.85130	0.997	D	0.92023	0.5627	9	0.87932	D	0	.	14.9169	0.70805	0.0:0.9309:0.0:0.0691	.	180	P35908	K22E_HUMAN	K	180	ENSP00000310861:E180K	ENSP00000310861:E180K	E	-	1	0	KRT2	51331656	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	4.886000	0.63149	1.498000	0.48600	0.655000	0.94253	GAG	KRT2	-	pfam_IF,prints_Keratin_II	ENSG00000172867		0.522	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	HGNC	protein_coding	OTTHUMT00000405704.1	-	0	41	0	C	NM_000423		53045389	-1	tier1	-	no_errors	ENST00000309680	ensembl	human	known	74_37	missense	18.60	70	16	SNP	1.000	T	T	53045389	C	T	53045389	3	4	99	1	0	0	0	0	1	0	0	0	8484	835	29	3	1417	3	KRT2	12	53045389	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	35394	53045389	80806506	118	28235											
BAZ2A	11176	genome.wustl.edu	37	chr12	56994255	56994255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcttcacgggtagagtctGggctaggacatgtccagccc	8	9	13	11	1	3	1	1	0	2	1	4	2	4	2	2	3	1	2	2	3	2	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:56994255G>A	ENST00000551812.1	-	24	4821	c.4628C>T	c.(4627-4629)cCa>cTa	p.P1543L	BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P1511L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1541L|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1513L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1543					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGTAGAGTCTGGGCTAGGACA	0.502																																																	0													65	64	64					12																	56994255		1908	4118	6026	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"Zinc fingers, PHD-type"	962	protein-coding gene	gene with protein product	"TTF-I interacting peptide 5"	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4628C>T	12.37:g.56994255G>A	ENSP00000446880:p.Pro1543Leu		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P1543L	ENST00000551812.1	37	c.4628	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420521	0.62622	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.73897	-0.54;-0.54;-0.59;-0.79;-0.59	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.65498	2.005	0.80722	D	1	B;B;B;D	0.89917	0.181;0.04;0.023;1.0	B;B;B;D	0.91635	0.074;0.037;0.024;0.999	D	0.85354	0.1103	10	0.56958	D	0.05	-0.053	17.8567	0.88765	0.0:0.0:1.0:0.0	.	1541;1539;1543;1516	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	L	1513;1511;1543;475;1541	ENSP00000368754:P1513L;ENSP00000179765:P1511L;ENSP00000446880:P1543L;ENSP00000448760:P475L;ENSP00000447941:P1541L	ENSP00000179765:P1511L	P	-	2	0	BAZ2A	55280522	1.000000	0.71417	0.999000	0.59377	0.492000	0.33523	4.988000	0.63863	2.832000	0.97577	0.655000	0.94253	CCA	BAZ2A	-	NULL	ENSG00000076108		0.502	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0	24	0	G	NM_013449		56994255	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	65.79	13	25	SNP	1.000	A	A	56994255	G	A	56994255	3	1	99	1	0	0	0	0	1	0	0	0	1332	1348	47	3	1113	3	BAZ2A	12	56994255	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	3948866	56994255	76857640	119	28236											
R3HDM2	22864	genome.wustl.edu	37	chr12	57704142	57704142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtttttgtttacagattCttccaccagttttttttctg	5	23	5	8	0	2	1	0	0	2	1	3	1	3	1	2	0	1	3	2	0	1	11			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:57704142C>T	ENST00000347140.3	-	3	460	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	R3HDM2_ENST00000403821.2_Missense_Mutation_p.E24K|R3HDM2_ENST00000402412.1_Missense_Mutation_p.E24K|R3HDM2_ENST00000358907.2_Missense_Mutation_p.E24K			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	24						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TTTACAGATTCTTCCACCAGT	0.363																																																	0													347	269	293					12																	57704142		692	1591	2283	SO:0001583	missense	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.70G>A	12.37:g.57704142C>T	ENSP00000317903:p.Glu24Lys		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E24K	ENST00000347140.3	37	c.70	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	C	32	5.113218	0.94339	.	.	ENSG00000179912	ENST00000347140;ENST00000402412;ENST00000358907;ENST00000403821;ENST00000448732	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.37320	0.0999	L	0.29908	0.895	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.62184	0.899;0.899	T	0.04216	-1.0968	10	0.42905	T	0.14	-11.9405	17.4112	0.87486	0.0:1.0:0.0:0.0	.	24;24	B5MCU0;Q9Y2K5	.;R3HD2_HUMAN	K	24	ENSP00000317903:E24K;ENSP00000385839:E24K;ENSP00000351784:E24K;ENSP00000385169:E24K	ENSP00000317903:E24K	E	-	1	0	R3HDM2	55990409	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.776000	0.62354	2.740000	0.93945	0.555000	0.69702	GAA	R3HDM2	-	NULL	ENSG00000179912		0.363	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	-	0	58	0	C	NM_014925		57704142	-1	tier1	-	no_errors	ENST00000347140	ensembl	human	known	74_37	missense	23.46	62	19	SNP	1.000	T	T	57704142	C	T	57704142	3	4	99	1	0	0	0	0	1	0	0	0	12933	922	32	3	2948	3	R3HDM2	12	57704142	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	709887	57704142	76147753	120	28237											
ZFC3H1	196441	genome.wustl.edu	37	chr12	72028607	72028608	+	Splice_Site	INS	-	-	A																															tttcggttttgaagcttgctINSaaaaaaaaaaaaacatttga																								rs398044490|rs397850786|rs34399921	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:72028607_72028608insA	ENST00000378743.3	-	11	2597		c.e11-2			NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGAAGCTTGCTAAAAAAAAAAA	0.327																																																	1	Unknown(1)	ovary(1)																																								SO:0001630	splice_region_variant	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2239-2->T	12.37:g.72028618_72028618dupA			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Splice_Site	INS	-	e11-2	ENST00000378743.3	37	c.2239-3_2239-2	CCDS41813.1	12																																																																																			ZFC3H1	-	-	ENSG00000133858		0.327	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1		0	18	0	-	NM_144982	Intron	72028608	-1	tier1		no_errors	ENST00000378743	ensembl	human	known	74_37	splice_site_ins	9.09	30	3	INS	0.902:0.745	A	A	72028608	-	A	72028607	8	5	99	1	0	1	1	0	0	0	1	0	17681	1536	53	0	3832	0	ZFC3H1	12	72028607	Splice_Site	INS	-	TCGA-LN-A49L-01A-11D-A247-09	14324465	72028607	61823288	121	28238											
SCYL2	55681	genome.wustl.edu	37	chr12	100676832	100676832	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaatgggaaatcctgtCactagagaatttgatgttgg	11	13	12	5	0	1	2	1	1	0	1	2	4	2	3	1	2	0	3	1	2	4	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:100676832C>A	ENST00000360820.2	+	2	521	c.84C>A	c.(82-84)gtC>gtA	p.V28V	SCYL2_ENST00000550067.1_3'UTR	NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	28					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						GAAATCCTGTCACTAGAGAAT	0.408																																																	0													103	99	100					12																	100676832		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.84C>A	12.37:g.100676832C>A			A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.V28	ENST00000360820.2	37	c.84	CCDS9076.1	12																																																																																			SCYL2	-	superfamily_Kinase-like_dom	ENSG00000136021		0.408	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL2	HGNC	protein_coding	OTTHUMT00000408493.2	-	0	34	0	C	NM_017988		100676832	1	tier1	-	no_errors	ENST00000360820	ensembl	human	known	74_37	silent	27.42	45	17	SNP	1.000	A	A	100676832	C	A	100676832	2	1	99	1	0	0	0	0	0	0	0	1	13993	813	29	3		3	SCYL2	12	100676832	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	28648225	100676832	33175063	122	28239											
C12orf48	55010	genome.wustl.edu	37	chr12	102558360	102558360	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatttgaaacatgctgctCgagagaaacaaatgtctatc	14	11	8	8	1	1	3	0	2	1	1	3	5	1	3	0	0	4	2	0	0	4	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:102558360C>T	ENST00000358383.5	+	5	685	c.640C>T	c.(640-642)Cga>Tga	p.R214*	PARPBP_ENST00000327680.2_Nonsense_Mutation_p.R133*|PARPBP_ENST00000541394.1_Nonsense_Mutation_p.R291*|PARPBP_ENST00000392911.2_Nonsense_Mutation_p.R133*|PARPBP_ENST00000543784.1_Nonsense_Mutation_p.R100*|PARPBP_ENST00000378128.3_Nonsense_Mutation_p.R214*|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	214					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ACATGCTGCTCGAGAGAAACA	0.388																																																	0													157	166	163					12																	102558360		2203	4300	6503	SO:0001587	stop_gained	0			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"PARP-1 binding protein"	613687	"chromosome 12 open reading frame 48"	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.640C>T	12.37:g.102558360C>T	ENSP00000351153:p.Arg214*		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.R214*	ENST00000358383.5	37	c.640	CCDS9090.2	12	.	.	.	.	.	.	.	.	.	.	C	36	5.622579	0.96660	.	.	ENSG00000185480	ENST00000378128;ENST00000327680;ENST00000541394;ENST00000543784;ENST00000358383;ENST00000392911;ENST00000417507;ENST00000412715	.	.	.	5.81	4.92	0.64577	.	0.498508	0.23624	N	0.046205	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0089	17.1553	0.86790	0.0:0.8736:0.1264:0.0	.	.	.	.	X	214;133;291;100;214;133;181;181	.	ENSP00000332915:R133X	R	+	1	2	C12orf48	101082490	0.995000	0.38212	0.994000	0.49952	0.962000	0.63368	4.551000	0.60740	1.477000	0.48234	-0.367000	0.07326	CGA	PARPBP	-	superfamily_P-loop_NTPase	ENSG00000185480		0.388	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARPBP	HGNC	protein_coding	OTTHUMT00000397030.2	-	0	35	0	C	NM_017915		102558360	1	tier1	-	no_errors	ENST00000358383	ensembl	human	known	74_37	nonsense	30.77	27	12	SNP	0.998	T	T	102558360	C	T	102558360	4	4	99	1	0	0	0	0	0	1	0	0	1697	876	31	1	407	1	C12orf48	12	102558360	Nonsense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1881528	102558360	31293535	123	28240											
RBM19	9904	genome.wustl.edu	37	chr12	114356247	114356247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtggccgtccacgacGtgaccctaagagagaagaca	12	6	12	11	3	0	4	0	1	0	3	1	6	1	4	3	1	1	1	3	1	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr12:114356247G>T	ENST00000545145.2	-	20	2469	c.2391C>A	c.(2389-2391)caC>caA	p.H797Q	RBM19_ENST00000392561.3_Missense_Mutation_p.H797Q|RBM19_ENST00000261741.5_Missense_Mutation_p.H797Q	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	797	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CGTCCACGACGTGACCCTAAG	0.547																																																	0													120	101	108					12																	114356247		2203	4300	6503	SO:0001583	missense	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"RNA binding motif (RRM) containing"	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2391C>A	12.37:g.114356247G>T	ENSP00000442053:p.His797Gln		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.H797Q	ENST00000545145.2	37	c.2391	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	G	5.434	0.265149	0.10294	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.15256	2.44;2.44;2.44	4.48	1.61	0.23674	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.262410	0.44483	D	0.000450	T	0.11153	0.0272	N	0.16862	0.45	0.18873	N	0.999989	B	0.27853	0.191	B	0.37780	0.258	T	0.33059	-0.9883	10	0.28530	T	0.3	-17.5688	6.7711	0.23594	0.3937:0.0:0.6063:0.0	.	797	Q9Y4C8	RBM19_HUMAN	Q	797	ENSP00000442053:H797Q;ENSP00000376344:H797Q;ENSP00000261741:H797Q	ENSP00000261741:H797Q	H	-	3	2	RBM19	112840630	0.133000	0.22466	0.774000	0.31636	0.185000	0.23345	0.490000	0.22403	0.146000	0.19002	-0.140000	0.14226	CAC	RBM19	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.547	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1		0	19	0	G	NM_016196		114356247	-1			no_errors	ENST00000261741	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.189	T	T	114356247	G	T	114356247	3	4	99	1	0	0	0	0	1	0	0	0	13166	1136	40	2	511	2	RBM19	12	114356247	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	11797887	114356247	19495648	124	28241											
LRCH1	23143	genome.wustl.edu	37	chr13	47243194	47243194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccgccctgcctgcctGcctgtgtggtctgcctctca	1	12	11	17	1	2	0	1	0	2	0	4	0	3	0	6	1	4	1	6	1	0	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr13:47243194G>T	ENST00000389798.3	+	3	679	c.482G>T	c.(481-483)tGc>tTc	p.C161F	LRCH1_ENST00000389797.3_Missense_Mutation_p.C161F|LRCH1_ENST00000311191.6_Missense_Mutation_p.C161F	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	161								p.C161>?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTGCCTGCCTGCCTGTGTGGT	0.443																																																	1	Complex(1)	skin(1)											170	159	163					13																	47243194		2203	4300	6503	SO:0001583	missense	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"calponin homology (CH) domain containing 1"	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.482G>T	13.37:g.47243194G>T	ENSP00000374448:p.Cys161Phe		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.C161F	ENST00000389798.3	37	c.482	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760583	0.31137	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.28895	1.59;1.59;1.59	5.98	4.16	0.48862	.	0.097668	0.64402	D	0.000001	T	0.26846	0.0657	N	0.10685	0.025	0.58432	D	0.999999	D;D;D;P	0.63880	0.987;0.987;0.993;0.847	P;D;D;B	0.63703	0.828;0.917;0.917;0.396	T	0.05435	-1.0885	10	0.10636	T	0.68	-2.9469	10.6544	0.45667	0.0713:0.1326:0.7962:0.0	.	161;161;161;161	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	F	161	ENSP00000308493:C161F;ENSP00000374448:C161F;ENSP00000374447:C161F	ENSP00000308493:C161F	C	+	2	0	LRCH1	46141195	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.709000	0.47160	1.544000	0.49359	0.655000	0.94253	TGC	LRCH1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000136141		0.443	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2		0	45	0	G	NM_015116		47243194	1			no_errors	ENST00000389798	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	T	T	47243194	G	T	47243194	3	4	99	1	0	0	0	0	1	0	0	0	8967	1319	46	3	492	3	LRCH1	13	47243194	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		47243194	67926684	125	28242											
FNDC3A	22862	genome.wustl.edu	37	chr13	49580412	49580412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctattgtaagtgcagAtggaacacaacaggtaagaa	15	8	10	8	0	0	2	0	0	0	2	0	3	0	3	2	2	4	3	2	2	6	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr13:49580412A>G	ENST00000492622.2	+	2	391	c.86A>G	c.(85-87)gAt>gGt	p.D29G	FNDC3A_ENST00000541916.1_Missense_Mutation_p.D29G	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	29					fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		GTAAGTGCAGATGGAACACAA	0.333																																																	0													139	124	128					13																	49580412		1845	4093	5938	SO:0001583	missense	0			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"Fibronectin type III domain containing"	20296	protein-coding gene	gene with protein product		615794	"fibronectin type III domain containing 3"	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.86A>G	13.37:g.49580412A>G	ENSP00000417257:p.Asp29Gly		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.D29G	ENST00000492622.2	37	c.86	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135101	0.77662	.	.	ENSG00000102531	ENST00000492622;ENST00000541916	T;T	0.79845	-1.31;-1.31	5.35	5.35	0.76521	.	0.085998	0.48286	D	0.000191	T	0.71945	0.3400	L	0.39147	1.195	0.41420	D	0.987792	P	0.35328	0.495	B	0.28465	0.09	T	0.75676	-0.3235	10	0.72032	D	0.01	-4.7194	13.5657	0.61817	1.0:0.0:0.0:0.0	.	29	Q9Y2H6	FND3A_HUMAN	G	29	ENSP00000417257:D29G;ENSP00000441831:D29G	ENSP00000420275:D29G	D	+	2	0	FNDC3A	48478413	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.815000	0.69215	2.149000	0.67028	0.460000	0.39030	GAT	FNDC3A	-	NULL	ENSG00000102531		0.333	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	-	0	36	0	A	NM_014923		49580412	1	tier1	-	no_errors	ENST00000492622	ensembl	human	known	74_37	missense	37.93	18	11	SNP	1.000	G	G	49580412	A	G	49580412	3	3	99	1	0	0	0	0	1	0	0	0	5991	333	12	4	88	4	FNDC3A	13	49580412	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	2337218	49580412	65589466	126	28243											
NALCN	259232	genome.wustl.edu	37	chr13	101910850	101910850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctcctttgtagtagtTgctagccgccacgatcacgt	6	15	9	11	3	2	0	1	0	1	0	3	1	2	0	3	0	2	5	3	0	3	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr13:101910850T>C	ENST00000251127.6	-	11	1291	c.1210A>G	c.(1210-1212)Aac>Gac	p.N404D	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.N404D	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	404					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTAGTAGTTGCTAGCCGCC	0.547																																																	0													80	60	66					13																	101910850		2203	4300	6503	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1210A>G	13.37:g.101910850T>C	ENSP00000251127:p.Asn404Asp		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.N404D	ENST00000251127.6	37	c.1210	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030032	0.75504	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.97352	-4.35;-4.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.93074	0.7795	N	0.08118	0	0.80722	D	1	D;P;D	0.57257	0.979;0.81;0.964	P;B;P	0.46275	0.51;0.306;0.51	D	0.93384	0.6746	10	0.34782	T	0.22	.	15.6114	0.76721	0.0:0.0:0.0:1.0	.	404;404;404	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	D	404	ENSP00000251127:N404D;ENSP00000365367:N404D	ENSP00000251127:N404D	N	-	1	0	NALCN	100708851	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	7.557000	0.82243	2.326000	0.78906	0.533000	0.62120	AAC	NALCN	-	NULL	ENSG00000102452		0.547	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0	29	0	T	NM_052867		101910850	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	27.27	24	9	SNP	1.000	C	C	101910850	T	C	101910850	3	2	99	1	0	0	0	0	1	0	0	0	10186	1812	63	4	4142	4	NALCN	13	101910850	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	52330438	101910850	13259028	127	28244											
ARGLU1	55082	genome.wustl.edu	37	chr13	107211906	107211906	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgttcaatttcatccttCcttttctccagttcttcctc	4	20	2	15	1	5	0	2	0	3	0	11	0	8	0	4	0	0	2	4	0	1	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr13:107211906C>A	ENST00000400198.3	-	2	691	c.447G>T	c.(445-447)agG>agT	p.R149S	ARGLU1_ENST00000375926.1_5'UTR|ARGLU1_ENST00000472226.1_5'Flank	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	149	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TTTCATCCTTCCTTTTCTCCA	0.458																																																	0													204	200	201					13																	107211906		1879	4115	5994	SO:0001583	missense	0			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.447G>T	13.37:g.107211906C>A	ENSP00000383059:p.Arg149Ser		B4E0Y3|Q5T257|Q6IQ34	Missense_Mutation	SNP	NULL	p.R149S	ENST00000400198.3	37	c.447	CCDS41906.1	13	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392161	0.62066	.	.	ENSG00000134884	ENST00000400198;ENST00000426600	.	.	.	5.51	2.88	0.33553	.	0.108848	0.64402	D	0.000007	T	0.76076	0.3937	M	0.80183	2.485	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.75892	-0.3157	9	0.72032	D	0.01	-9.8302	10.1744	0.42931	0.0:0.7268:0.0:0.2732	.	149	Q9NWB6	ARGL1_HUMAN	S	149;99	.	ENSP00000383059:R149S	R	-	3	2	ARGLU1	106009907	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	0.308000	0.19314	0.307000	0.22880	0.655000	0.94253	AGG	ARGLU1	-	NULL	ENSG00000134884		0.458	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	HGNC	protein_coding	OTTHUMT00000045727.1	-	0	104	0	C	NM_018011		107211906	-1	tier1	-	no_errors	ENST00000400198	ensembl	human	known	74_37	missense	49.23	66	64	SNP	1.000	A	A	107211906	C	A	107211906	3	1	99	1	0	0	0	0	1	0	0	0	860	854	30	3	386	3	ARGLU1	13	107211906	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	5301056	107211906	7957972	128	28245											
C14orf37	145407	genome.wustl.edu	37	chr14	58604834	58604834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtctcccgtactttggaGcaagttcacaatggaaactt	12	11	9	9	1	2	0	1	0	1	0	3	3	2	2	1	2	3	3	1	2	5	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr14:58604834G>T	ENST00000267485.7	-	2	1437	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	415						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTACTTTGGAGCAAGTTCACA	0.443																																																	0													91	87	88					14																	58604834		2203	4300	6503	SO:0001583	missense	0				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1243C>A	14.37:g.58604834G>T	ENSP00000267485:p.Leu415Ile		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.L415I	ENST00000267485.7	37	c.1243	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787520	0.31593	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.21734	1.99	5.86	1.98	0.26296	.	0.662303	0.15063	N	0.282621	T	0.12135	0.0295	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.33171	0.137;0.4;0.137;0.137	B;B;B;B	0.26969	0.052;0.075;0.052;0.052	T	0.20505	-1.0273	10	0.35671	T	0.21	-1.3619	4.7747	0.13173	0.4693:0.3364:0.1943:0.0	.	453;415;415;415	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	I	415;453	ENSP00000267485:L415I	ENSP00000267485:L415I	L	-	1	0	C14orf37	57674587	0.000000	0.05858	0.015000	0.15790	0.422000	0.31414	0.036000	0.13819	0.084000	0.17077	-0.345000	0.07892	CTC	C14orf37	-	NULL	ENSG00000139971		0.443	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	-	0	53	0	G	NM_001001872		58604834	-1	tier1	-	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.003	T	T	58604834	G	T	58604834	3	4	99	1	0	0	0	0	1	0	0	0	1776	971	34	3	1109	3	C14orf37	14	58604834	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		58604834	48744706	129	28246											
RTN1	6252	genome.wustl.edu	37	chr14	60194345	60194345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggtgatcagctcatcctCggagatgctgcctttcccct	5	11	11	14	2	2	2	2	1	0	1	5	3	4	2	4	3	3	2	4	3	0	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr14:60194345C>T	ENST00000267484.5	-	3	1392	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	353					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGCTCATCCTCGGAGATGCTG	0.597																																																	0													24	22	23					14																	60194345		2197	4288	6485	SO:0001583	missense	0			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"neuroendocrine-specific protein"	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1057G>A	14.37:g.60194345C>T	ENSP00000267484:p.Glu353Lys		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.E353K	ENST00000267484.5	37	c.1057	CCDS9740.1	14	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013473	0.75161	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	T	0.27256	1.68	5.53	5.53	0.82687	.	0.351770	0.30043	N	0.010560	T	0.29783	0.0744	M	0.68952	2.095	0.58432	D	0.999996	P	0.49358	0.923	B	0.36030	0.216	T	0.27938	-1.0059	10	0.59425	D	0.04	.	19.4439	0.94838	0.0:1.0:0.0:0.0	.	353	Q16799	RTN1_HUMAN	K	353;279	ENSP00000267484:E353K	ENSP00000267484:E353K	E	-	1	0	RTN1	59264098	0.999000	0.42202	0.983000	0.44433	0.979000	0.70002	5.299000	0.65716	2.603000	0.88011	0.609000	0.83330	GAG	RTN1	-	NULL	ENSG00000139970		0.597	RTN1-001	KNOWN	basic|CCDS	protein_coding	RTN1	HGNC	protein_coding	OTTHUMT00000072278.2	-	0	13	0	C			60194345	-1	tier1	-	no_errors	ENST00000267484	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.998	T	T	60194345	C	T	60194345	3	4	99	1	0	0	0	0	1	0	0	0	13770	893	31	1	1366	1	RTN1	14	60194345	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1589511	60194345	47155195	130	28247											
C14orf102	55051	genome.wustl.edu	37	chr14	90770449	90770449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgtagccaatgtgtggTtgactgatcataaatcccca	10	13	8	10	0	1	2	1	2	0	0	3	2	3	2	4	1	1	2	4	1	4	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr14:90770449T>C	ENST00000354366.3	-	5	1067	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	NRDE2_ENST00000357904.3_Missense_Mutation_p.T48A	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	279																	CAATGTGTGGTTGACTGATCA	0.532																																																	0													148	141	143					14																	90770449		2203	4300	6503	SO:0001583	missense	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 102"	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.835A>G	14.37:g.90770449T>C	ENSP00000346335:p.Thr279Ala		B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.T279A	ENST00000354366.3	37	c.835	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623949	0.87460	.	.	ENSG00000119720	ENST00000354366;ENST00000357904	T;T	0.41065	1.81;1.01	5.79	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.58623	0.2135	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.59537	-0.7436	10	0.09084	T	0.74	-27.4634	12.0948	0.53748	0.1288:0.0:0.0:0.8712	.	279	Q9H7Z3	CN102_HUMAN	A	279;48	ENSP00000346335:T279A;ENSP00000350579:T48A	ENSP00000346335:T279A	T	-	1	0	C14orf102	89840202	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.069000	0.71209	0.972000	0.38314	0.533000	0.62120	ACC	NRDE2	-	NULL	ENSG00000119720		0.532	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	-	0	50	0	T	NM_017970		90770449	-1	tier1	-	no_errors	ENST00000354366	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	C	C	90770449	T	C	90770449	3	2	99	1	0	0	0	0	1	0	0	0	1740	1725	60	4	2699	4	C14orf102	14	90770449	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	30576104	90770449	16579091	131	28248											
SMEK1	55671	genome.wustl.edu	37	chr14	91931710	91931710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacttttcattatgtagcGgttgtaaaactcatctttta	13	17	5	6	1	3	0	2	0	1	0	3	0	3	0	0	1	3	3	0	1	7	8			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr14:91931710G>T	ENST00000554943.1	-	11	1829	c.1714C>A	c.(1714-1716)Cgc>Agc	p.R572S	SMEK1_ENST00000337238.4_Missense_Mutation_p.R559S|SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000554684.1_Missense_Mutation_p.R559S|SMEK1_ENST00000428424.2_Missense_Mutation_p.R333S|SMEK1_ENST00000555462.1_Missense_Mutation_p.R333S			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	572					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ATTATGTAGCGGTTGTAAAAC	0.358																																																	0													102	103	103					14																	91931710		2203	4300	6503	SO:0001583	missense	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1714C>A	14.37:g.91931710G>T	ENSP00000450883:p.Arg572Ser		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.R572S	ENST00000554943.1	37	c.1714		14	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214790	0.39102	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	6.17	5.29	0.74685	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95277	0.8468	M	0.66297	2.02	0.80722	D	1	P;B;P	0.36171	0.491;0.406;0.541	B;B;B	0.42995	0.142;0.165;0.404	D	0.94276	0.7515	10	0.36615	T	0.2	-5.3299	15.6271	0.76870	0.0653:0.0:0.9346:0.0	.	333;572;559	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	S	559;559;333;572;333;559	ENSP00000450864:R559S;ENSP00000337125:R559S;ENSP00000392704:R333S;ENSP00000450883:R572S;ENSP00000450891:R333S;ENSP00000452596:R559S	ENSP00000337125:R559S	R	-	1	0	SMEK1	91001463	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	9.869000	0.99810	1.632000	0.50472	-0.140000	0.14226	CGC	SMEK1	-	superfamily_ARM-type_fold	ENSG00000100796		0.358	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1		0	19	0	G	NM_032560		91931710	-1			no_errors	ENST00000554943	ensembl	human	known	74_37	missense	5.71	33	2	SNP	1.000	T	T	91931710	G	T	91931710	3	4	99	1	0	0	0	0	1	0	0	0	14838	1116	39	2	807	2	SMEK1	14	91931710	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	1161261	91931710	15417830	132	28249											
PPP4R4	57718	genome.wustl.edu	37	chr14	94712823	94712823	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgccacatgtcatatcaagcGatcagatttattaccgtttc	11	14	6	10	2	3	1	3	0	0	1	4	2	3	1	2	0	3	1	2	0	4	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr14:94712823G>C	ENST00000304338.3	+	14	1712	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	520					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.D520N(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CATATCAAGCGATCAGATTTA	0.403																																																	1	Substitution - Missense(1)	central_nervous_system(1)											120	118	118					14																	94712823		2203	4300	6503	SO:0001583	missense	0			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	23788	protein-coding gene	gene with protein product	"cilia and flagella associated protein 14"		"KIAA1622"	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1558G>C	14.37:g.94712823G>C	ENSP00000305924:p.Asp520His		Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D520H	ENST00000304338.3	37	c.1558	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604205	0.87157	.	.	ENSG00000119698	ENST00000304338	T	0.34472	1.36	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64664	-0.6354	10	0.87932	D	0	-21.5366	20.3681	0.98887	0.0:0.0:1.0:0.0	.	520	Q6NUP7	PP4R4_HUMAN	H	520	ENSP00000305924:D520H	ENSP00000305924:D520H	D	+	1	0	PPP4R4	93782576	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.601000	0.90864	2.890000	0.99128	0.655000	0.94253	GAT	PPP4R4	-	superfamily_ARM-type_fold	ENSG00000119698		0.403	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	-	0	36	0	G	NM_058237		94712823	1	tier1	-	no_errors	ENST00000304338	ensembl	human	known	74_37	missense	38.89	33	21	SNP	1.000	C	C	94712823	G	C	94712823	3	2	99	1	0	0	0	0	1	0	0	0	12447	1058	37	5	1685	5	PPP4R4	14	94712823	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	2781113	94712823	12636717	133	28250											
RTL1	388015	genome.wustl.edu	37	chr14	101347804	101347804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcatggcgggtgccggccGcagcgagaggcattgcctca	6	5	16	14	5	1	1	1	0	0	1	1	2	1	1	4	4	3	3	4	4	0	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr14:101347804G>A	ENST00000534062.1	-	1	3380	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1108					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGTGCCGGCCGCAGCGAGAGG	0.652																																																	0													31	29	30					14																	101347804		692	1591	2283	SO:0001583	missense	0				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3322C>T	14.37:g.101347804G>A	ENSP00000435342:p.Arg1108Trp		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom	p.R1108W	ENST00000534062.1	37	c.3322	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	G	10.80	1.451263	0.26074	.	.	ENSG00000254656	ENST00000534062	T	0.22945	1.93	3.11	2.19	0.27852	.	.	.	.	.	T	0.11623	0.0283	N	0.14661	0.345	0.09310	N	1	P	0.41929	0.765	B	0.28638	0.092	T	0.11446	-1.0587	9	0.66056	D	0.02	.	8.4036	0.32601	0.0:0.2399:0.7601:0.0	.	1108	E9PKS8	.	W	1108	ENSP00000435342:R1108W	ENSP00000435342:R1108W	R	-	1	2	RTL1	100417557	0.023000	0.18921	0.001000	0.08648	0.002000	0.02628	0.372000	0.20467	0.838000	0.34948	0.491000	0.48974	CGG	RTL1	-	NULL	ENSG00000254656		0.652	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	-	0	34	0	G	NM_001134888		101347804	-1	tier1	-	no_errors	ENST00000534062	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.000	A	A	101347804	G	A	101347804	3	1	99	1	0	0	0	0	1	0	0	0	13769	1086	38	1	758	1	RTL1	14	101347804	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	6634981	101347804	6001736	134	28251											
TRPM7	54822	genome.wustl.edu	37	chr15	50903479	50903479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtttcatcttgtctgaaGgactgttctaataattcaac	11	16	7	7	0	5	1	2	1	3	0	5	2	5	2	0	2	1	2	0	2	4	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:50903479G>A	ENST00000313478.7	-	17	2372	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	TRPM7_ENST00000560955.1_Silent_p.S697S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	697					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTTGTCTGAAGGACTGTTCTA	0.338																																																	0													91	80	83					15																	50903479		1820	4075	5895	SO:0001819	synonymous_variant	0			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"Voltage-gated ion channels / Transient receptor potential cation channels"	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.2091C>T	15.37:g.50903479G>A			Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.S697	ENST00000313478.7	37	c.2091	CCDS42035.1	15																																																																																			TRPM7	-	NULL	ENSG00000092439		0.338	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM7	HGNC	protein_coding	OTTHUMT00000418604.1	-	0	41	0	G	NM_017672		50903479	-1	tier1	-	no_errors	ENST00000313478	ensembl	human	known	74_37	silent	38.46	24	15	SNP	1.000	A	A	50903479	G	A	50903479	2	1	99	1	0	0	0	0	0	0	0	1	16639	987	35	3		3	TRPM7	15	50903479	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		50903479	51627913	135	28252											
MAPK6	5597	genome.wustl.edu	37	chr15	52353571	52353571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagcactctcccatcCttacatgagcatatattctt	13	12	5	11	0	2	3	0	1	2	2	4	3	3	3	2	0	3	2	2	0	5	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:52353571C>T	ENST00000261845.5	+	5	1748	c.941C>T	c.(940-942)cCt>cTt	p.P314L	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	314	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CTCTCCCATCCTTACATGAGC	0.378																																																	0													149	131	137					15																	52353571		2195	4293	6488	SO:0001583	missense	0			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"Mitogen-activated protein kinase cascade / Kinases"	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.941C>T	15.37:g.52353571C>T	ENSP00000261845:p.Pro314Leu		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	p.P314L	ENST00000261845.5	37	c.941	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	C	29.8	5.040353	0.93630	.	.	ENSG00000069956	ENST00000261845	T	0.54479	0.57	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76421	0.3985	M	0.87827	2.91	0.80722	D	1	D	0.63880	0.993	D	0.67103	0.949	T	0.81508	-0.0901	10	0.87932	D	0	-11.2255	18.5662	0.91118	0.0:1.0:0.0:0.0	.	314	Q16659	MK06_HUMAN	L	314	ENSP00000261845:P314L	ENSP00000261845:P314L	P	+	2	0	MAPK6	50140863	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.399000	0.81585	0.585000	0.79938	CCT	MAPK6	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000069956		0.378	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	-	0	50	0	C	NM_002748		52353571	1	tier1	-	no_errors	ENST00000261845	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T	T	52353571	C	T	52353571	3	4	99	1	0	0	0	0	1	0	0	0	9319	681	24	3	955	3	MAPK6	15	52353571	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1450092	52353571	50177821	136	28253											
CGNL1	84952	genome.wustl.edu	37	chr15	57754058	57754058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatatgatgctgagttgcagGccctgagggagagtgtggaa	11	9	16	5	0	0	4	0	3	0	1	0	6	0	5	1	3	2	3	1	3	3	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:57754058G>T	ENST00000281282.5	+	8	2449	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	791						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGAGTTGCAGGCCCTGAGGGA	0.542																																																	0													95	90	91					15																	57754058		2192	4292	6484	SO:0001583	missense	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2371G>T	15.37:g.57754058G>T	ENSP00000281282:p.Ala791Ser		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.A791S	ENST00000281282.5	37	c.2371	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	6.589	0.477108	0.12521	.	.	ENSG00000128849	ENST00000281282	T	0.77358	-1.09	5.41	4.48	0.54585	.	0.230286	0.30528	N	0.009428	T	0.64227	0.2579	L	0.45581	1.43	0.24942	N	0.99184	B	0.14012	0.009	B	0.12156	0.007	T	0.47394	-0.9121	10	0.07813	T	0.8	-6.9017	5.8545	0.18712	0.1871:0.0:0.6599:0.153	.	791	Q0VF96	CGNL1_HUMAN	S	791	ENSP00000281282:A791S	ENSP00000281282:A791S	A	+	1	0	CGNL1	55541350	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	2.560000	0.45896	1.261000	0.44149	-0.332000	0.08345	GCC	CGNL1	-	NULL	ENSG00000128849		0.542	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	-	0	45	0	G	NM_032866		57754058	1	tier1	-	no_errors	ENST00000281282	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	57754058	G	T	57754058	3	4	99	1	0	0	0	0	1	0	0	0	3311	1203	42	3	2397	3	CGNL1	15	57754058	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	5400487	57754058	44777334	137	28254											
CLN6	54982	genome.wustl.edu	37	chr15	68504072	68504072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggacagacaggtggtgctGgtagccactgaagagcaggc	11	5	16	9	1	0	3	0	1	0	2	0	4	0	4	1	5	3	3	1	5	2	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:68504072G>T	ENST00000249806.5	-	4	584	c.427C>A	c.(427-429)Cag>Aag	p.Q143K	CLN6_ENST00000418702.2_Intron|CLN6_ENST00000565471.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.Q175K|CLN6_ENST00000564752.1_Missense_Mutation_p.Q143K|CLN6_ENST00000566347.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	143					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGGTGGTGCTGGTAGCCACTG	0.582																																																	0													123	121	121					15																	68504072		2200	4298	6498	SO:0001583	missense	0			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.427C>A	15.37:g.68504072G>T	ENSP00000249806:p.Gln143Lys		A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	NULL	p.Q143K	ENST00000249806.5	37	c.427	CCDS10227.1	15	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724139	0.68959	.	.	ENSG00000128973	ENST00000249806;ENST00000538696	D;D	0.95342	-3.68;-3.68	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.92038	0.7477	L	0.39147	1.195	0.80722	D	1	B;B	0.23377	0.084;0.02	B;B	0.20184	0.028;0.027	D	0.89438	0.3721	10	0.72032	D	0.01	-24.8775	18.6234	0.91328	0.0:0.0:1.0:0.0	.	175;143	B4DDH6;Q9NWW5	.;CLN6_HUMAN	K	143;175	ENSP00000249806:Q143K;ENSP00000445770:Q175K	ENSP00000249806:Q143K	Q	-	1	0	CLN6	66291126	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.312000	0.96287	2.388000	0.81334	0.511000	0.50034	CAG	CLN6	-	NULL	ENSG00000128973		0.582	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN6	HGNC	protein_coding	OTTHUMT00000257066.1	-	0	30	0	G	NM_017882		68504072	-1	tier1	-	no_errors	ENST00000249806	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	T	T	68504072	G	T	68504072	3	4	99	1	0	0	0	0	1	0	0	0	3552	1357	47	3	524	3	CLN6	15	68504072	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	10750014	68504072	34027320	138	28255											
EDC3	80153	genome.wustl.edu	37	chr15	74925075	74925075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagatacggcctgcgtgctCccccagtggcagaggcaggc	8	6	14	13	2	0	2	0	0	0	2	1	2	1	2	3	4	3	3	3	4	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:74925075C>T	ENST00000315127.4	-	7	1586	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	EDC3_ENST00000426797.3_Missense_Mutation_p.E469K|EDC3_ENST00000568176.1_Missense_Mutation_p.E469K	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	469	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCTGCGTGCTCCCCCAGTGGC	0.577											OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78	68	71					15																	74925075		2197	4296	6493	SO:0001583	missense	0			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"yjeF domain containing (E.coli)", "LSM16 homolog (EDC3, S. cerevisiae)", "enhancer of mRNA decapping 3 homolog (S. cerevisiae)"	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.1405G>A	15.37:g.74925075C>T	ENSP00000320503:p.Glu469Lys	1156	B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.E469K	ENST00000315127.4	37	c.1405	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159542	0.78226	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	T;T	0.44482	0.92;0.92	5.52	5.52	0.82312	YjeF-related protein, N-terminal (3);	0.044386	0.85682	D	0.000000	T	0.35770	0.0943	L	0.46157	1.445	0.80722	D	1	P	0.48589	0.912	B	0.39935	0.314	T	0.24905	-1.0147	10	0.06757	T	0.87	-1.3629	19.4249	0.94737	0.0:1.0:0.0:0.0	.	469	Q96F86	EDC3_HUMAN	K	469	ENSP00000320503:E469K;ENSP00000401343:E469K	ENSP00000320503:E469K	E	-	1	0	EDC3	72712128	1.000000	0.71417	0.929000	0.37066	0.812000	0.45895	7.653000	0.83643	2.589000	0.87451	0.561000	0.74099	GAG	EDC3	-	superfamily_YjeF_N_dom	ENSG00000179151		0.577	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	-	0	40	0	C	NM_025083		74925075	-1	tier1	-	no_errors	ENST00000315127	ensembl	human	known	74_37	missense	8.62	53	5	SNP	1.000	T	T	74925075	C	T	74925075	3	4	99	1	0	0	0	0	1	0	0	0	4921	864	30	3	125	3	EDC3	15	74925075	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	6421003	74925075	27606317	139	28256											
CSPG4	1464	genome.wustl.edu	37	chr15	75980366	75980366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggggcgtggtcattcaCgggctggatggccactcgga	7	7	16	11	3	2	0	2	0	0	0	3	2	2	2	1	7	0	1	1	7	0	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:75980366C>T	ENST00000308508.5	-	3	3132	c.3040G>A	c.(3040-3042)Gtg>Atg	p.V1014M		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1014	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1. {ECO:0000250}.|Interaction with COL6A2. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGTCATTCACGGGCTGGATG	0.627																																																	0													48	52	51					15																	75980366		2197	4291	6488	SO:0001583	missense	0			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"Proteoglycans / Cell surface : Other"	2466	protein-coding gene	gene with protein product	"melanoma-associated chondroitin sulfate proteoglycan"	601172	"chondroitin sulfate proteoglycan 4 (melanoma-associated)"			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.3040G>A	15.37:g.75980366C>T	ENSP00000312506:p.Val1014Met		D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.V1014M	ENST00000308508.5	37	c.3040	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	13.21	2.169897	0.38315	.	.	ENSG00000173546	ENST00000308508	T	0.48836	0.8	4.89	3.96	0.45880	.	0.101850	0.41712	D	0.000828	T	0.59662	0.2210	M	0.63843	1.955	0.22424	N	0.999111	D	0.89917	1.0	P	0.62435	0.902	T	0.51164	-0.8740	10	0.49607	T	0.09	.	11.282	0.49199	0.0:0.8489:0.0:0.1511	.	1014	Q6UVK1	CSPG4_HUMAN	M	1014	ENSP00000312506:V1014M	ENSP00000312506:V1014M	V	-	1	0	CSPG4	73767421	0.001000	0.12720	0.635000	0.29338	0.646000	0.38490	0.611000	0.24268	2.253000	0.74438	0.555000	0.69702	GTG	CSPG4	-	NULL	ENSG00000173546		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	-	0	43	0	C	NM_001897		75980366	-1	tier1	-	no_errors	ENST00000308508	ensembl	human	known	74_37	missense	17.44	71	15	SNP	0.418	T	T	75980366	C	T	75980366	3	4	99	1	0	0	0	0	1	0	0	0	3969	536	19	1	3960	1	CSPG4	15	75980366	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1055291	75980366	26551026	140	28257											
SGK269	79834	genome.wustl.edu	37	chr15	77471471	77471471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctgttttccgacggCggaagaagcttttaaatgat	10	13	9	9	3	2	2	1	1	1	1	3	4	3	3	2	2	1	2	2	2	4	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:77471471C>T	ENST00000560626.2	-	4	3273	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	PEAK1_ENST00000558305.1_Missense_Mutation_p.R933H|PEAK1_ENST00000312493.4_Missense_Mutation_p.R933H			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	933					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TTTCCGACGGCGGAAGAAGCT	0.507																																																	0													102	112	109					15																	77471471		1944	4140	6084	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2798G>A	15.37:g.77471471C>T	ENSP00000452796:p.Arg933His		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R933H	ENST00000560626.2	37	c.2798	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712761	0.89112	.	.	ENSG00000173517	ENST00000312493	T	0.74842	-0.88	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000010	T	0.79753	0.4500	L	0.32530	0.975	0.44652	D	0.997636	D	0.89917	1.0	D	0.85130	0.997	T	0.80917	-0.1168	10	0.87932	D	0	-11.2796	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	933	Q9H792	PEAK1_HUMAN	H	933	ENSP00000309230:R933H	ENSP00000309230:R933H	R	-	2	0	AC087465.1	75258526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.677000	0.61634	2.793000	0.96121	0.655000	0.94253	CGC	PEAK1	-	NULL	ENSG00000173517		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3		0	28	0	C			77471471	-1			no_errors	ENST00000312493	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	77471471	C	T	77471471	3	4	99	1	0	0	0	0	1	0	0	0	14256	768	27	1	2458	1	SGK269	15	77471471	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1491105	77471471	25059921	141	28258											
SV2B	9899	genome.wustl.edu	37	chr15	91832773	91832773	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatgctaatctctgcAgtctgctgcttcttcctgtt	4	16	8	13	0	3	0	0	0	3	0	6	0	5	0	2	1	4	6	2	1	1	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:91832773A>C	ENST00000394232.1	+	12	2201	c.1731A>C	c.(1729-1731)gcA>gcC	p.A577A	SV2B_ENST00000330276.4_Silent_p.A577A|SV2B_ENST00000545111.2_Silent_p.A426A	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	577					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TAATCTCTGCAGTCTGCTGCT	0.527																																																	0													218	187	198					15																	91832773		2198	4298	6496	SO:0001819	synonymous_variant	0			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1731A>C	15.37:g.91832773A>C			B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.A577	ENST00000394232.1	37	c.1731	CCDS10370.1	15																																																																																			SV2B	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000185518		0.527	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3	-	0	46	0	A	NM_014848		91832773	1	tier1	-	no_errors	ENST00000330276	ensembl	human	known	74_37	silent	22.37	59	17	SNP	0.028	C	C	91832773	A	C	91832773	2	2	99	1	0	0	0	0	0	0	0	1	15465	175	7	4		4	SV2B	15	91832773	Silent	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	14361302	91832773	10698619	142	28259											
MCTP2	55784	genome.wustl.edu	37	chr15	94899379	94899379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttagtcctctttgatacGcaacctacggctctctgagt	7	14	8	12	2	2	2	0	2	2	0	4	2	3	2	2	1	3	3	2	1	4	5	rs142627007	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:94899379G>T	ENST00000357742.4	+	8	1019	c.1019G>T	c.(1018-1020)cGc>cTc	p.R340L	MCTP2_ENST00000451018.3_Missense_Mutation_p.R340L|MCTP2_ENST00000543482.1_Missense_Mutation_p.R340L|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000557742.1_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	340					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTTTGATACGCAACCTACGG	0.388																																																	0													133	134	134					15																	94899379		2197	4298	6495	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1019G>T	15.37:g.94899379G>T	ENSP00000350377:p.Arg340Leu		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R340L	ENST00000357742.4	37	c.1019	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584462	0.86748	.	.	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.73152	-0.72;-0.29;-0.13	5.77	5.77	0.91146	.	0.505681	0.23258	N	0.050167	T	0.73164	0.3552	N	0.22421	0.69	0.80722	D	1	D;P;D;D	0.63046	0.992;0.87;0.974;0.986	P;B;P;P	0.58577	0.841;0.283;0.554;0.501	T	0.71968	-0.4432	10	0.37606	T	0.19	.	19.6048	0.95576	0.0:0.0:1.0:0.0	.	340;340;340;340	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	L	340	ENSP00000438521:R340L;ENSP00000395109:R340L;ENSP00000350377:R340L	ENSP00000350377:R340L	R	+	2	0	MCTP2	92700383	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	5.791000	0.69045	2.720000	0.93068	0.557000	0.71058	CGC	MCTP2	-	NULL	ENSG00000140563		0.388	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3		0	38	0	G	NM_018349		94899379	1			no_errors	ENST00000357742	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	94899379	G	T	94899379	3	4	99	1	0	0	0	0	1	0	0	0	9439	1087	38	2	1049	2	MCTP2	15	94899379	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	3066606	94899379	7632013	143	28260											
LRRK1	79705	genome.wustl.edu	37	chr15	101597188	101597188	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccggttctggggcagcCggaggaagtgcagttccggc	5	6	17	13	4	1	0	0	0	1	0	2	2	2	2	4	6	2	4	4	6	1	2	rs201964335		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr15:101597188C>G	ENST00000388948.3	+	28	4819	c.4460C>G	c.(4459-4461)cCg>cGg	p.P1487R	LRRK1_ENST00000284395.5_Missense_Mutation_p.P1484R|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGGGCAGCCGGAGGAAGTG	0.632																																																	0													67	77	74					15																	101597188		1992	4171	6163	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4460C>G	15.37:g.101597188C>G	ENSP00000373600:p.Pro1487Arg			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P1487R	ENST00000388948.3	37	c.4460	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	c	14.93	2.682727	0.47991	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.64438	-0.1;-0.1	5.03	3.14	0.36123	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058771	0.64402	D	0.000001	T	0.62696	0.2449	L	0.43152	1.355	0.46849	D	0.999228	D	0.65815	0.995	P	0.60789	0.879	T	0.60068	-0.7335	10	0.06099	T	0.92	.	11.495	0.50402	0.0:0.8517:0.0:0.1483	.	1487	Q38SD2	LRRK1_HUMAN	R	1487;1484;178;41	ENSP00000373600:P1487R;ENSP00000284395:P1484R	ENSP00000284395:P1484R	P	+	2	0	LRRK1	99414711	0.970000	0.33590	0.773000	0.31616	0.456000	0.32438	2.556000	0.45862	0.532000	0.28657	-0.359000	0.07587	CCG	LRRK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154237		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0	12	0	C	NM_024652		101597188	1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	31.25	11	5	SNP	0.975	G	G	101597188	C	G	101597188	3	3	99	1	0	0	0	0	1	0	0	0	9067	652	23	5	4566	5	LRRK1	15	101597188	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	6697809	101597188	934204	144	28261											
CCDC64B	146439	genome.wustl.edu	37	chr16	3079364	3079364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcgcttcttggggggctCtaagatctcttccgggggtg	3	14	15	9	2	3	1	0	0	3	1	6	1	4	1	1	5	0	3	1	5	1	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:3079364C>G	ENST00000572449.1	-	7	1086	c.1024G>C	c.(1024-1026)Gag>Cag	p.E342Q	CCDC64B_ENST00000389347.4_Missense_Mutation_p.E342Q|CCDC64B_ENST00000573514.1_Missense_Mutation_p.E135Q			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	342										breast(1)|endometrium(2)|large_intestine(1)	4						TTGGGGGGCTCTAAGATCTCT	0.607																																																	0													40	39	39					16																	3079364		1963	4142	6105	SO:0001583	missense	0			BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1024G>C	16.37:g.3079364C>G	ENSP00000459043:p.Glu342Gln		Q658L9	Missense_Mutation	SNP	superfamily_Sig_transdc_His_kinase_dimeric	p.E342Q	ENST00000572449.1	37	c.1024	CCDS45393.1	16	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017779	0.54576	.	.	ENSG00000162069	ENST00000389347	T	0.33865	1.39	4.44	4.44	0.53790	.	0.324362	0.28016	N	0.016926	T	0.52289	0.1725	L	0.57536	1.79	0.38672	D	0.952339	D	0.76494	0.999	D	0.66351	0.943	T	0.56860	-0.7909	10	0.54805	T	0.06	-28.1477	12.4271	0.55553	0.0:1.0:0.0:0.0	.	342	A1A5D9	BICR2_HUMAN	Q	342	ENSP00000373998:E342Q	ENSP00000373998:E342Q	E	-	1	0	CCDC64B	3019365	1.000000	0.71417	1.000000	0.80357	0.180000	0.23129	3.692000	0.54727	2.313000	0.78055	0.561000	0.74099	GAG	CCDC64B	-	NULL	ENSG00000162069		0.607	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC64B	HGNC	protein_coding	OTTHUMT00000436991.1	-	0	30	0	C			3079364	-1	tier1	-	no_errors	ENST00000389347	ensembl	human	known	74_37	missense	46.67	8	7	SNP	1.000	G	G	3079364	C	G	3079364	3	3	99	1	0	0	0	0	1	0	0	0	2843	922	32	5	518	5	CCDC64B	16	3079364	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09		3079364	87275389	145	28262											
PRKCB	5579	genome.wustl.edu	37	chr16	24105592	24105592	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcctttgggatttctgaActtcagaaagccagtgttga	9	15	10	7	0	2	3	1	2	1	1	3	4	3	4	2	1	2	1	2	1	2	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:24105592A>T	ENST00000321728.7	+	7	970	c.795A>T	c.(793-795)gaA>gaT	p.E265D	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000303531.7_Missense_Mutation_p.E265D	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	265					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	GGATTTCTGAACTTCAGAAAG	0.433																																																	0													152	138	143					16																	24105592		2197	4300	6497	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.795A>T	16.37:g.24105592A>T	ENSP00000318315:p.Glu265Asp		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.E265D	ENST00000321728.7	37	c.795	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384838	0.82792	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.40756	1.02;1.02	5.52	-3.37	0.04898	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.62744	0.2453	M	0.88105	2.93	0.58432	D	0.99999	D;D	0.61080	0.989;0.981	D;P	0.66497	0.944;0.844	T	0.69669	-0.5083	10	0.40728	T	0.16	.	15.0193	0.71617	0.2833:0.0:0.7167:0.0	.	265;265	P05771-2;P05771	.;KPCB_HUMAN	D	265	ENSP00000318315:E265D;ENSP00000305355:E265D	ENSP00000305355:E265D	E	+	3	2	PRKCB	24013093	1.000000	0.71417	0.989000	0.46669	0.932000	0.56968	1.008000	0.29872	-0.433000	0.07286	-0.290000	0.09829	GAA	PRKCB	-	superfamily_C2_dom,smart_C2_dom,pirsf_Protein_kinase_C_a/b/g	ENSG00000166501		0.433	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	39	0	A	NM_212535		24105592	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	37.50	44	27	SNP	0.999	T	T	24105592	A	T	24105592	3	4	99	1	0	0	0	0	1	0	0	0	12550	40	2	5	821	5	PRKCB	16	24105592	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	21026228	24105592	66249161	146	28263											
HSD3B7	80270	genome.wustl.edu	37	chr16	30999400	30999400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcaccgtcagcaccGacaaggctcagcgccatttc	9	7	7	18	3	3	0	3	0	0	0	4	1	3	0	5	1	2	2	5	1	1	2	rs372114914		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:30999400G>T	ENST00000297679.5	+	7	1099	c.1006G>T	c.(1006-1008)Gac>Tac	p.D336Y	HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR|AC135048.1_ENST00000602217.1_5'Flank	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	336					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGTCAGCACCGACAAGGCTCA	0.642																																																	0													43	39	40					16																	30999400		2197	4300	6497	SO:0001583	missense	0			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	18324	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 3"	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.1006G>T	16.37:g.30999400G>T	ENSP00000297679:p.Asp336Tyr		Q96M28|Q9BSN9	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA	p.D336Y	ENST00000297679.5	37	c.1006	CCDS10698.1	16	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547662	0.65311	.	.	ENSG00000099377	ENST00000297679	T	0.65549	-0.16	5.17	-3.38	0.04883	.	0.312207	0.39909	N	0.001228	T	0.72228	0.3434	M	0.68317	2.08	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	T	0.73845	-0.3854	10	0.87932	D	0	-20.0423	16.1139	0.81289	0.1234:0.0:0.8766:0.0	.	336	Q9H2F3	3BHS7_HUMAN	Y	336	ENSP00000297679:D336Y	ENSP00000297679:D336Y	D	+	1	0	HSD3B7	30906901	0.924000	0.31332	0.756000	0.31282	0.874000	0.50279	1.359000	0.34113	-0.968000	0.03578	-0.345000	0.07892	GAC	HSD3B7	-	NULL	ENSG00000099377		0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2	-	0	49	0	G			30999400	1	tier1	-	no_errors	ENST00000297679	ensembl	human	known	74_37	missense	18.33	49	11	SNP	0.907	T	T	30999400	G	T	30999400	3	4	99	1	0	0	0	0	1	0	0	0	7419	1058	37	2	1028	2	HSD3B7	16	30999400	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	6893808	30999400	59355353	147	28264											
NAE1	8883	genome.wustl.edu	37	chr16	66847533	66847533	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattgtgcctcgaacaggtAaatttccttgaccctctttg	9	14	8	10	1	1	1	0	1	1	0	3	3	2	1	3	1	2	1	3	1	4	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:66847533A>C	ENST00000290810.3	-	13	1065	c.968T>G	c.(967-969)tTa>tGa	p.L323*	NAE1_ENST00000359087.4_Nonsense_Mutation_p.L326*|NAE1_ENST00000379463.2_Nonsense_Mutation_p.L317*|NAE1_ENST00000394074.2_Nonsense_Mutation_p.L234*			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	323					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCGAACAGGTAAATTTCCTTG	0.338																																																	0													110	107	108					16																	66847533		2200	4300	6500	SO:0001587	stop_gained	0			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.968T>G	16.37:g.66847533A>C	ENSP00000290810:p.Leu323*		A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	p.L323*	ENST00000290810.3	37	c.968	CCDS10820.1	16	.	.	.	.	.	.	.	.	.	.	A	37	6.428510	0.97559	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.8449	15.9967	0.80256	1.0:0.0:0.0:0.0	.	.	.	.	X	326;323;317;234	.	ENSP00000290810:L323X	L	-	2	0	NAE1	65405034	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.904000	0.92590	2.181000	0.69327	0.477000	0.44152	TTA	NAE1	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000159593		0.338	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NAE1	HGNC	protein_coding	OTTHUMT00000268832.1	-	0	32	0	A	NM_003905		66847533	-1	tier1	-	no_errors	ENST00000290810	ensembl	human	known	74_37	nonsense	55.56	24	30	SNP	1.000	C	C	66847533	A	C	66847533	4	2	99	1	0	0	0	0	0	1	0	0	10177	372	13	4	668	4	NAE1	16	66847533	Nonsense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	35848133	66847533	23507220	148	28265											
TMCO7	79613	genome.wustl.edu	37	chr16	69008066	69008066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttatgcgaatcgtcagggCattaggtgagttttcttgtt	7	16	11	7	2	2	1	1	1	1	0	3	2	2	1	1	2	1	3	1	2	3	6			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:69008066C>A	ENST00000261778.1	+	15	2849	c.2837C>A	c.(2836-2838)gCa>gAa	p.A946E		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	946						integral component of membrane (GO:0016021)											ATCGTCAGGGCATTAGGTGAG	0.478																																																	0													87	89	88					16																	69008066		1979	4168	6147	SO:0001583	missense	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2837C>A	16.37:g.69008066C>A	ENSP00000261778:p.Ala946Glu		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.A946E	ENST00000261778.1	37	c.2837	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825897	0.32237	.	.	ENSG00000103047	ENST00000261778	T	0.65178	-0.14	5.59	4.64	0.57946	Armadillo-like helical (1);Armadillo-type fold (1);	0.154165	0.56097	D	0.000021	T	0.46268	0.1384	L	0.42686	1.345	0.09310	N	1	B	0.21606	0.058	B	0.20767	0.031	T	0.36359	-0.9751	10	0.02654	T	1	-3.0157	8.5897	0.33679	0.0:0.7662:0.1521:0.0817	.	946	Q9C0B7	TMCO7_HUMAN	E	946	ENSP00000261778:A946E	ENSP00000261778:A946E	A	+	2	0	TMCO7	67565567	0.143000	0.22626	0.351000	0.25721	0.465000	0.32709	0.728000	0.26013	1.524000	0.49035	-0.143000	0.13931	GCA	TANGO6	-	superfamily_ARM-type_fold	ENSG00000103047		0.478	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2	-	0	55	0	C	XM_928235.2		69008066	1	tier1	-	no_errors	ENST00000261778	ensembl	human	known	74_37	missense	33.33	29	15	SNP	0.016	A	A	69008066	C	A	69008066	3	1	99	1	0	0	0	0	1	0	0	0	16048	710	25	3	2895	3	TMCO7	16	69008066	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	2160533	69008066	21346687	149	28266											
COG4	25839	genome.wustl.edu	37	chr16	70546283	70546283	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgccacaatggctttGagacgttgctcagcttcctg	6	14	9	12	1	2	1	1	1	1	1	4	2	3	1	2	1	3	4	2	1	1	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:70546283G>C	ENST00000323786.5	-	5	618	c.597C>G	c.(595-597)ctC>ctG	p.L199L	COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Silent_p.L195L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	195					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAATGGCTTTGAGACGTTGCT	0.483																																																	0													85	73	77					16																	70546283		2198	4300	6498	SO:0001819	synonymous_variant	0			AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"Components of oligomeric golgi complex"	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.597C>G	16.37:g.70546283G>C			B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.L199	ENST00000323786.5	37	c.597	CCDS10892.2	16																																																																																			COG4	-	pfam_COG_su4,smart_COG_su4	ENSG00000103051		0.483	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000250326.3	-	0	17	0	G			70546283	-1	tier1	-	no_errors	ENST00000323786	ensembl	human	known	74_37	silent	33.33	14	7	SNP	1.000	C	C	70546283	G	C	70546283	2	2	99	1	0	0	0	0	0	0	0	1	3667	1277	45	5		5	COG4	16	70546283	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	1538217	70546283	19808470	150	28267											
FTSJD1	55783	genome.wustl.edu	37	chr16	71319539	71319539	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgagaaatgattttcccCgctttattagtgaaagcagt	13	13	8	7	1	0	3	0	3	0	1	1	4	1	3	2	0	1	2	2	0	4	5	rs3826247	byFrequency	TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:71319539C>A	ENST00000338099.5	-	3	621	c.285G>T	c.(283-285)gcG>gcT	p.A95A	CMTR2_ENST00000434935.2_Silent_p.A95A			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	95					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TGATTTTCCCCGCTTTATTAG	0.373																																																	0													102	97	99					16																	71319539		2198	4300	6498	SO:0001819	synonymous_variant	0			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"adrift homolog (Drosophila)"		"FtsJ methyltransferase domain containing 1"	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.285G>T	16.37:g.71319539C>A			B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.A95	ENST00000338099.5	37	c.285	CCDS10898.1	16																																																																																			CMTR2	-	NULL	ENSG00000180917		0.373	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMTR2	HGNC	protein_coding	OTTHUMT00000268984.2	-	0	11	0	C	NM_018348		71319539	-1	tier1	-	no_errors	ENST00000338099	ensembl	human	known	74_37	silent	57.14	6	8	SNP	0.684	A	A	71319539	C	A	71319539	2	1	99	1	0	0	0	0	0	0	0	1	6114	639	23	2		2	FTSJD1	16	71319539	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	773256	71319539	19035214	151	28268											
KIAA0182	23199	genome.wustl.edu	37	chr16	85689343	85689343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcacaggatggacgactCctactgcctgtctgccctga	7	10	10	14	1	2	1	0	1	2	0	3	4	3	3	3	2	4	1	3	2	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr16:85689343C>A	ENST00000253458.7	+	6	985	c.809C>A	c.(808-810)tCc>tAc	p.S270Y	GSE1_ENST00000405402.2_Missense_Mutation_p.S166Y|GSE1_ENST00000393243.1_Missense_Mutation_p.S197Y	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	270																	ATGGACGACTCCTACTGCCTG	0.632																																																	0													106	91	96					16																	85689343		2195	4299	6494	SO:0001583	missense	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"genetic suppressor element 1"		"KIAA0182", "Gse1 coiled-coil protein homolog (mouse)"	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.809C>A	16.37:g.85689343C>A	ENSP00000253458:p.Ser270Tyr		D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	pfam_GSE-like	p.S270Y	ENST00000253458.7	37	c.809	CCDS10952.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.87|17.87	3.495463|3.495463	0.64186|0.64186	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692|ENST00000405402;ENST00000411612;ENST00000253458;ENST00000393243	.|T;T;T	.|0.33865	.|1.39;1.39;1.39	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|0.052612	.|0.85682	.|D	.|0.000000	T|T	0.49643|0.49643	0.1569|0.1569	L|L	0.48362|0.48362	1.52|1.52	0.58432|0.58432	D|D	0.999992|0.999992	.|D;D	.|0.71674	.|0.998;0.996	.|D;P	.|0.65443	.|0.935;0.862	T|T	0.34750|0.34750	-0.9816|-0.9816	5|10	.|0.12766	.|T	.|0.61	-30.5813|-30.5813	17.8254|17.8254	0.88664|0.88664	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|197;270	.|Q14687-3;Q14687	.|.;GSE1_HUMAN	T|Y	77|166;166;270;197	.|ENSP00000384839:S166Y;ENSP00000253458:S270Y;ENSP00000376934:S197Y	.|ENSP00000253458:S270Y	P|S	+|+	1|2	0|0	KIAA0182|KIAA0182	84246844|84246844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	7.498000|7.498000	0.81546|0.81546	2.211000|2.211000	0.71520|0.71520	0.555000|0.555000	0.69702|0.69702	CCT|TCC	GSE1	-	NULL	ENSG00000131149		0.632	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	HGNC	protein_coding	OTTHUMT00000325527.1	-	0	39	0	C	NM_014615		85689343	1	tier1	-	no_errors	ENST00000253458	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	A	A	85689343	C	A	85689343	3	1	99	1	0	0	0	0	1	0	0	0	8186	855	30	3	831	3	KIAA0182	16	85689343	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	14369804	85689343	4665410	152	28269											
WSCD1	23302	genome.wustl.edu	37	chr17	6021393	6021393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggagggagattgagatGtttgattcagccatcctgct	9	11	14	7	0	1	3	1	2	0	2	2	6	2	4	2	3	2	3	2	3	0	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:6021393G>A	ENST00000574946.1	+	8	1650	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	WSCD1_ENST00000573634.1_Missense_Mutation_p.M304I|WSCD1_ENST00000539421.1_Missense_Mutation_p.M420I|WSCD1_ENST00000574232.1_Missense_Mutation_p.M420I|WSCD1_ENST00000317744.5_Missense_Mutation_p.M420I			Q658N2	WSCD1_HUMAN	WSC domain containing 1	420						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGATTGAGATGTTTGATTCAG	0.547																																																	0													84	79	81					17																	6021393		2203	4300	6503	SO:0001583	missense	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1260G>A	17.37:g.6021393G>A	ENSP00000460825:p.Met420Ile		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.M420I	ENST00000574946.1	37	c.1260	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102544	0.56183	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.30448	1.53;1.53	5.47	5.47	0.80525	.	0.037367	0.85682	D	0.000000	T	0.30417	0.0764	L	0.50919	1.6	0.58432	D	0.999999	B	0.19073	0.033	B	0.17433	0.018	T	0.05084	-1.0907	10	0.21540	T	0.41	-38.635	16.8089	0.85713	0.0:0.0:1.0:0.0	.	420	Q658N2	WSCD1_HUMAN	I	420	ENSP00000323087:M420I;ENSP00000446032:M420I	ENSP00000323087:M420I	M	+	3	0	WSCD1	5962117	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.422000	0.97458	2.583000	0.87209	0.655000	0.94253	ATG	WSCD1	-	superfamily_P-loop_NTPase	ENSG00000179314		0.547	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	HGNC	protein_coding	OTTHUMT00000438965.4	-	0	22	0	G	NM_015253		6021393	1	tier1	-	no_errors	ENST00000317744	ensembl	human	known	74_37	missense	52.00	12	13	SNP	1.000	A	A	6021393	G	A	6021393	3	1	99	1	0	0	0	0	1	0	0	0	17455	1377	48	3	1286	3	WSCD1	17	6021393	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		6021393	75173817	153	28270											
TP53	7157	genome.wustl.edu	37	chr17	7578547	7578547	+	Frame_Shift_Del	DEL	G	G	-																															aaaacatcttgttgagggcaGgggagtactgtaggaagagg																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:7578547delG	ENST00000269305.4	-	5	572	c.383delC	c.(382-384)cctfs	p.P128fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P128fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.P128fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P128fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGAGGGCAGGGGAGTACTG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	29	Deletion - In frame(11)|Whole gene deletion(8)|Deletion - Frameshift(6)|Substitution - Missense(3)|Unknown(1)	upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|breast(3)|urinary_tract(2)|lung(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|oesophagus(1)|prostate(1)											44	45	44					17																	7578547		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.383delC	17.37:g.7578547delG	ENSP00000269305:p.Pro128fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P128fs	ENST00000269305.4	37	c.383	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	33	0	G	NM_000546		7578547	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	41.18	10	7	DEL	0.106	-	-	7578547	G	-	7578547	7	5	99	1	0	1	0	1	0	0	0	0	16429	1000	35	0	915	0	TP53	17	7578547	Frame_Shift_Del	DEL	G	TCGA-LN-A49L-01A-11D-A247-09	1557154	7578547	73616663	154	28271											
DNAH2	146754	genome.wustl.edu	37	chr17	7719967	7719967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcttcgcaagaagtctGaagagatggagctgaagctg	13	7	15	6	1	1	4	0	2	1	2	2	7	1	6	0	2	3	4	0	2	4	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:7719967G>A	ENST00000572933.1	+	64	11268	c.9808G>A	c.(9808-9810)Gaa>Aaa	p.E3270K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3270K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3270	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAGAAGTCTGAAGAGATGGA	0.537																																																	0													152	139	143					17																	7719967		2203	4300	6503	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"Axonemal dyneins"	2948	protein-coding gene	gene with protein product		603333	"dynein, axonemal, heavy polypeptide 2", "dynein heavy chain domain 3"	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9808G>A	17.37:g.7719967G>A	ENSP00000458355:p.Glu3270Lys		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3270K	ENST00000572933.1	37	c.9808	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605066	0.66445	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.77358	-1.09	4.58	3.61	0.41365	Dynein heavy chain, coiled coil stalk (1);	0.179711	0.48286	N	0.000194	T	0.72851	0.3512	L	0.55017	1.72	0.80722	D	1	B;B	0.12013	0.004;0.005	B;B	0.22880	0.025;0.042	T	0.71163	-0.4673	10	0.52906	T	0.07	.	11.9592	0.52999	0.0867:0.0:0.9133:0.0	.	3231;3270	Q9P225-2;Q9P225	.;DYH2_HUMAN	K	3231;3270	ENSP00000373825:E3270K	ENSP00000353818:E3231K	E	+	1	0	DNAH2	7660692	1.000000	0.71417	0.534000	0.28014	0.987000	0.75469	5.123000	0.64703	1.284000	0.44531	0.561000	0.74099	GAA	DNAH2	-	NULL	ENSG00000183914		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0	68	0	G	NM_020877		7719967	1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	30.00	49	21	SNP	0.992	A	A	7719967	G	A	7719967	3	1	99	1	0	0	0	0	1	0	0	0	4616	1291	45	3	10058	3	DNAH2	17	7719967	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	141420	7719967	73475243	155	28272											
AP2B1	163	genome.wustl.edu	37	chr17	34044277	34044277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccaagaggaatgtggaagGgcaggacatgctgtaccaat	13	7	14	7	0	0	1	0	0	0	1	0	4	0	4	2	4	3	3	2	4	5	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:34044277G>T	ENST00000262325.7	+	20	3201	c.2648G>T	c.(2647-2649)gGg>gTg	p.G883V	AP2B1_ENST00000589344.1_Missense_Mutation_p.G897V|AP2B1_ENST00000537622.2_Missense_Mutation_p.G897V|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.G897V|AP2B1_ENST00000592545.1_Missense_Mutation_p.G859V|AP2B1_ENST00000538556.1_Missense_Mutation_p.G826V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	883	Interaction with ARRB1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATGTGGAAGGGCAGGACATG	0.433																																																	0													135	117	123					17																	34044277		2203	4300	6503	SO:0001583	missense	0			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.2648G>T	17.37:g.34044277G>T	ENSP00000262325:p.Gly883Val		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.G897V	ENST00000262325.7	37	c.2690	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027745	0.93518	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.43294	1.21;1.22;0.95;1.22	5.86	5.86	0.93980	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66906	0.2837	M	0.83953	2.67	0.80722	D	1	D;D;P;D	0.76494	0.999;0.988;0.892;0.985	P;P;P;P	0.61070	0.838;0.847;0.775;0.883	T	0.69939	-0.5009	10	0.87932	D	0	-11.8983	19.5509	0.95319	0.0:0.0:1.0:0.0	.	634;859;883;897	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	V	883;897;826;897;634	ENSP00000262325:G883V;ENSP00000314414:G897V;ENSP00000440563:G826V;ENSP00000437413:G897V	ENSP00000262325:G883V	G	+	2	0	AP2B1	31068390	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GGG	AP2B1	-	pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C	ENSG00000006125		0.433	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	-	0	52	0	G			34044277	1	tier1	-	no_errors	ENST00000312678	ensembl	human	known	74_37	missense	37.50	30	18	SNP	1.000	T	T	34044277	G	T	34044277	3	4	99	1	0	0	0	0	1	0	0	0	741	1232	43	3	2768	3	AP2B1	17	34044277	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	26324310	34044277	47150933	156	28273											
C17orf50	146853	genome.wustl.edu	37	chr17	34091541	34091541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgagctcctcttctgcaaGaaatgcaggagtctgcacag	10	9	11	11	1	3	1	0	0	3	1	4	3	4	2	1	1	5	4	1	1	2	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:34091541G>C	ENST00000285023.4	+	3	461	c.429G>C	c.(427-429)aaG>aaC	p.K143N	C17orf50_ENST00000586491.1_Missense_Mutation_p.E114Q|C17orf50_ENST00000588628.1_Missense_Mutation_p.E151Q	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	143													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTTCTGCAAGAAATGCAGGA	0.682																																																	0													10	13	12					17																	34091541		1943	4132	6075	SO:0001583	missense	0			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389	ENST00000285023.4:c.429G>C	17.37:g.34091541G>C	ENSP00000285023:p.Lys143Asn		Q6Q621	Missense_Mutation	SNP	NULL	p.K143N	ENST00000285023.4	37	c.429	CCDS42298.1	17	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309624	0.60414	.	.	ENSG00000154768	ENST00000285023	T	0.57107	0.42	5.05	3.04	0.35103	.	0.275582	0.25750	N	0.028548	T	0.37046	0.0989	L	0.29908	0.895	0.31371	N	0.680163	P	0.34639	0.461	B	0.34873	0.191	T	0.45425	-0.9262	10	0.72032	D	0.01	-47.3604	6.2083	0.20615	0.0936:0.0:0.7232:0.1832	.	143	Q8WW18	CQ050_HUMAN	N	143	ENSP00000285023:K143N	ENSP00000285023:K143N	K	+	3	2	C17orf50	31115654	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	2.138000	0.42140	0.692000	0.31613	-0.145000	0.13849	AAG	C17orf50	-	NULL	ENSG00000154768		0.682	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf50	HGNC	protein_coding	OTTHUMT00000449132.1	-	0	25	0	G	NM_145272		34091541	1	tier1	-	no_errors	ENST00000285023	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	C	C	34091541	G	C	34091541	3	2	99	1	0	0	0	0	1	0	0	0	1867	933	33	5	439	5	C17orf50	17	34091541	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	47264	34091541	47103669	157	28274											
SYNRG	11276	genome.wustl.edu	37	chr17	35930849	35930849	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggctgaggggcatggAgcccgcaggacctgaaggta	10	5	16	10	1	0	2	0	2	0	0	1	4	1	4	3	6	1	4	3	6	3	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:35930849A>T	ENST00000339208.6	-	10	1374	c.1234T>A	c.(1234-1236)Tcc>Acc	p.S412T	SYNRG_ENST00000502449.2_Missense_Mutation_p.S334T|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Missense_Mutation_p.S333T|SYNRG_ENST00000346661.4_Missense_Mutation_p.S412T|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000345615.4_Missense_Mutation_p.S334T|SYNRG_ENST00000394378.2_Missense_Mutation_p.S334T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	412					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGGGCATGGAGCCCGCAGGA	0.542																																																	0													66	64	65					17																	35930849		2203	4300	6503	SO:0001583	missense	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.1234T>A	17.37:g.35930849A>T	ENSP00000343610:p.Ser412Thr		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.S412T	ENST00000339208.6	37	c.1234	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813110	0.90707	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T	0.49139	1.39;0.79;0.81	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	M	0.63843	1.955	0.80722	D	1	D;P;D;D;D	0.63046	0.962;0.935;0.962;0.992;0.992	P;P;P;D;D	0.75484	0.679;0.679;0.679;0.986;0.986	T	0.65738	-0.6095	10	0.44086	T	0.13	-11.1364	15.8373	0.78808	1.0:0.0:0.0:0.0	.	334;334;334;412;412	Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;SYNRG_HUMAN	T	412;412;334;334	ENSP00000005279:S412T;ENSP00000424893:S334T;ENSP00000377903:S334T	ENSP00000315722:S412T	S	-	1	0	SYNRG	33004962	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.978000	0.63799	2.150000	0.67090	0.528000	0.53228	TCC	SYNRG	-	NULL	ENSG00000006114		0.542	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	-	0	22	0	A	NM_007247		35930849	-1	tier1	-	no_errors	ENST00000339208	ensembl	human	known	74_37	missense	69.05	13	29	SNP	1.000	T	T	35930849	A	T	35930849	3	4	99	1	0	0	0	0	1	0	0	0	15507	304	11	5	2835	5	SYNRG	17	35930849	Missense_Mutation	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	1839308	35930849	45264361	158	28275											
MARCH10	162333	genome.wustl.edu	37	chr17	60865859	60865859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtttggaagatgacctGctagaaaaccgggatctctc	11	10	10	10	1	1	3	0	1	1	2	3	5	1	5	3	2	2	2	3	2	4	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:60865859G>T	ENST00000311269.5	-	3	466	c.192C>A	c.(190-192)agC>agA	p.S64R	MARCH10_ENST00000456609.2_Missense_Mutation_p.S64R|MARCH10_ENST00000583600.1_Missense_Mutation_p.S64R|MARCH10_ENST00000544856.2_Missense_Mutation_p.S64R	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	64					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AAGATGACCTGCTAGAAAACC	0.493																																																	0													102	89	94					17																	60865859		2203	4300	6503	SO:0001583	missense	0			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"RING-type (C3HC4) zinc fingers", "MARCH membrane-associated ring fingers"	26655	protein-coding gene	gene with protein product		613337	"ring finger protein 190", "membrane-associated ring finger (C3HC4) 10"	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.192C>A	17.37:g.60865859G>T	ENSP00000311496:p.Ser64Arg		D3DU09|Q8IYS7|Q8N7Z7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S64R	ENST00000311269.5	37	c.192	CCDS11635.1	17	.	.	.	.	.	.	.	.	.	.	G	3.275	-0.148283	0.06627	.	.	ENSG00000173838	ENST00000456609;ENST00000311269;ENST00000544856	T;T;T	0.16897	2.31;2.31;2.31	5.28	-3.53	0.04667	.	0.267434	0.26987	N	0.021483	T	0.28267	0.0698	M	0.71581	2.175	0.09310	N	1	D;D;D	0.56746	0.961;0.977;0.961	P;P;P	0.58873	0.708;0.847;0.708	T	0.16276	-1.0408	10	0.28530	T	0.3	-6.4399	12.0102	0.53282	0.3698:0.0:0.6302:0.0	.	64;64;64	B3KVK0;G3V1Q5;Q8NA82	.;.;MARHA_HUMAN	R	64	ENSP00000416177:S64R;ENSP00000311496:S64R;ENSP00000443746:S64R	ENSP00000311496:S64R	S	-	3	2	MARCH10	58219591	0.049000	0.20398	0.324000	0.25361	0.145000	0.21501	-0.231000	0.09069	-0.461000	0.06993	-1.069000	0.02264	AGC	MARCH10	-	NULL	ENSG00000173838		0.493	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	HGNC	protein_coding	OTTHUMT00000445252.1	-	0	68	0	G	NM_152598		60865859	-1	tier1	-	no_errors	ENST00000311269	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.046	T	T	60865859	G	T	60865859	3	4	99	1	0	0	0	0	1	0	0	0	9337	1310	46	3	2270	3	MARCH10	17	60865859	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	24935010	60865859	20329351	159	28276											
ICAM2	3384	genome.wustl.edu	37	chr17	62082482	62082482	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggtacacgctgacgtTggaattcattgactcctgct	8	12	9	12	3	2	2	2	2	0	0	3	3	3	3	1	2	2	4	1	2	2	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:62082482T>G	ENST00000412356.1	-	4	667	c.313A>C	c.(313-315)Aac>Cac	p.N105H	ICAM2_ENST00000418105.1_Missense_Mutation_p.N105H|ICAM2_ENST00000578892.1_Missense_Mutation_p.N81H|ICAM2_ENST00000578379.1_Missense_Mutation_p.N4H|ICAM2_ENST00000579687.1_Missense_Mutation_p.N105H|ICAM2_ENST00000449662.2_Missense_Mutation_p.N105H|ICAM2_ENST00000579788.1_Missense_Mutation_p.N105H|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	105					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACGCTGACGTTGGAATTCATT	0.572																																																	0													100	71	81					17																	62082482		2203	4300	6503	SO:0001583	missense	0				CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.313A>C	17.37:g.62082482T>G	ENSP00000415283:p.Asn105His		Q14600	Missense_Mutation	SNP	pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM	p.N105H	ENST00000412356.1	37	c.313	CCDS11657.1	17	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419165	0.42918	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.16073	2.37;2.37;2.37	5.38	1.93	0.25924	Intercellular adhesion molecule, N-terminal (1);Immunoglobulin-like fold (1);	0.396304	0.25607	N	0.029506	T	0.30916	0.0780	M	0.64997	1.995	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.972	T	0.04855	-1.0922	10	0.44086	T	0.13	-16.6134	5.416	0.16374	0.0:0.0893:0.3497:0.561	.	105;105	B7Z316;P13598	.;ICAM2_HUMAN	H	105	ENSP00000415283:N105H;ENSP00000388666:N105H;ENSP00000392634:N105H	ENSP00000415283:N105H	N	-	1	0	ICAM2	59436214	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	1.000000	0.29770	0.334000	0.23590	0.459000	0.35465	AAC	ICAM2	-	pfam_ICAM_N	ENSG00000108622		0.572	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM2	HGNC	protein_coding	OTTHUMT00000443687.1	-	0	51	0	T			62082482	-1	tier1	-	no_errors	ENST00000412356	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.000	G	G	62082482	T	G	62082482	3	3	99	1	0	0	0	0	1	0	0	0	7507	1812	63	4	526	4	ICAM2	17	62082482	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	1216623	62082482	19112728	160	28277											
NARF	26502	genome.wustl.edu	37	chr17	80439050	80439050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagccttccccctgctttGcatggctcccggggcgctga	5	9	12	15	2	0	1	0	1	0	0	2	2	2	1	4	3	3	4	4	3	1	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr17:80439050G>T	ENST00000309794.11	+	7	930	c.732G>T	c.(730-732)ttG>ttT	p.L244F	NARF_ENST00000457415.3_Missense_Mutation_p.L290F|NARF_ENST00000412079.2_Missense_Mutation_p.L116F|NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000390006.4_Missense_Mutation_p.L185F|NARF_ENST00000345415.7_Missense_Mutation_p.L196F	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	244						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCCTGCTTTGCATGGCTCCC	0.577																																																	0													82	83	82					17																	80439050		2203	4300	6503	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"iron-only hydrogenase-like protein 2"	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.732G>T	17.37:g.80439050G>T	ENSP00000309899:p.Leu244Phe		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.L244F	ENST00000309794.11	37	c.732	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	.	9.686	1.150560	0.21371	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000412079;ENST00000457415	T;T;T	0.46063	0.88;0.88;0.88	5.1	-4.25	0.03766	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	1.684820	0.03572	N	0.228728	T	0.48132	0.1483	L	0.31926	0.97	0.09310	N	0.999997	B;D;D;P;D;P	0.56746	0.298;0.961;0.977;0.855;0.961;0.94	B;D;P;P;D;P	0.65573	0.149;0.936;0.888;0.757;0.936;0.882	T	0.52185	-0.8609	10	0.56958	D	0.05	.	7.3503	0.26686	0.4364:0.0:0.4577:0.1059	.	116;199;244;196;244;244	B4DZZ6;B4DND8;Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;.;.;NARF_HUMAN	F	185;244;244;196;116;199	ENSP00000374656:L185F;ENSP00000309899:L244F;ENSP00000283996:L196F	ENSP00000309899:L244F	L	+	3	2	NARF	78032339	0.003000	0.15002	0.000000	0.03702	0.005000	0.04900	0.822000	0.27352	-0.642000	0.05480	-0.339000	0.08088	TTG	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase	ENSG00000141562		0.577	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	-	0	26	0	G	NM_031968		80439050	1	tier1	-	no_errors	ENST00000309794	ensembl	human	known	74_37	missense	70.45	13	31	SNP	0.000	T	T	80439050	G	T	80439050	3	4	99	1	0	0	0	0	1	0	0	0	10205	1310	46	3	758	3	NARF	17	80439050	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	18356568	80439050	756160	161	28278											
AZU1	566	genome.wustl.edu	37	chr19	828365	828365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcttcgtgatgaccgCggccagctgcttccaaagcc	6	8	11	16	4	0	2	0	2	0	0	2	2	1	2	5	1	4	3	5	1	1	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:828365C>T	ENST00000233997.2	+	2	215	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	65	Hydrophobic.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.|Possesses antibiotic activity.				cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGATGACCGCGGCCAGCTGC	0.657																																																	0													35	41	39					19																	828365		2200	4293	6493	SO:0001583	missense	0			X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"cationic antimicrobial protein 37", "heparin-binding protein", "neutrophil azurocidin"	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.194C>T	19.37:g.828365C>T	ENSP00000233997:p.Ala65Val		P80014|Q52LG4|Q9UCM1|Q9UCT5	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A65V	ENST00000233997.2	37	c.194	CCDS12044.1	19	.	.	.	.	.	.	.	.	.	.	C	15.14	2.744795	0.49151	.	.	ENSG00000172232	ENST00000334630;ENST00000233997	D	0.95238	-3.65	2.4	2.4	0.29515	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.97898	0.9309	H	0.97240	3.965	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91243	0.5023	9	0.62326	D	0.03	.	8.2927	0.31967	0.0:1.0:0.0:0.0	.	65	P20160	CAP7_HUMAN	V	79;65	ENSP00000233997:A65V	ENSP00000233997:A65V	A	+	2	0	AZU1	779365	0.074000	0.21230	0.009000	0.14445	0.035000	0.12851	1.349000	0.33998	1.344000	0.45657	0.511000	0.50034	GCG	AZU1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000172232		0.657	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZU1	HGNC	protein_coding	OTTHUMT00000457472.2	-	0	12	0	C	NM_001700		828365	1	tier1	-	no_errors	ENST00000233997	ensembl	human	known	74_37	missense	73.33	4	11	SNP	0.009	T	T	828365	C	T	828365	3	4	99	1	0	0	0	0	1	0	0	0	1244	768	27	1	200	1	AZU1	19	828365	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09		828365	58300618	162	28279											
PRTN3	5657	genome.wustl.edu	37	chr19	846216	846216	+	Frame_Shift_Del	DEL	C	C	-																															cacagcaggaccagccagtgCcccacggcacccagtgcctg																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:846216delC	ENST00000234347.5	+	4	485	c.439delC	c.(439-441)cccfs	p.P147fs	PRTN3_ENST00000544537.2_Frame_Shift_Del_p.P106fs	NM_002777.3	NP_002768.3	P24158	PRTN3_HUMAN	proteinase 3	147	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				collagen catabolic process (GO:0030574)|mature dendritic cell differentiation (GO:0097029)|negative regulation of phagocytosis (GO:0050765)|positive regulation of cell proliferation (GO:0008284)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCAGTGCCCCACGGCAC	0.701																																																	0													22	18	19					19																	846216		2169	4248	6417	SO:0001589	frameshift_variant	0				CCDS32860.1	19p13.3	2008-07-31	2008-07-31			ENSG00000196415			9495	protein-coding gene	gene with protein product	"myeloblastin", "serine proteinase, neutrophil", "Wegener granulomatosis autoantigen"	177020				2258701	Standard	NM_002777		Approved	PR-3, ACPA, C-ANCA, AGP7, MBT, P29	uc002lqa.1	P24158		ENST00000234347.5:c.439delC	19.37:g.846216delC	ENSP00000234347:p.Pro147fs		P15637|P18078|Q4VB08|Q4VB09|Q6LBM7|Q6LBN2|Q9UD25|Q9UQD8	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.H148fs	ENST00000234347.5	37	c.439	CCDS32860.1	19																																																																																			PRTN3	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000196415		0.701	PRTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTN3	HGNC	protein_coding	OTTHUMT00000457888.2		0	25	0	C	NM_002777		846216	1	tier1		no_errors	ENST00000234347	ensembl	human	known	74_37	frame_shift_del	34.21	25	13	DEL	0.001	-	-	846216	C	-	846216	7	5	99	1	0	1	0	1	0	0	0	0	12681	739	26	0	453	0	PRTN3	19	846216	Frame_Shift_Del	DEL	C	TCGA-LN-A49L-01A-11D-A247-09	17851	846216	58282767	163	28280											
ARHGEF18	23370	genome.wustl.edu	37	chr19	7523441	7523442	+	Frame_Shift_Del	DEL	GG	GG	-																															gttacaaaagctcatcgtgaGggaagtggccaacgaggaga																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:7523441_7523442delGG	ENST00000359920.6	+	9	1914_1915	c.1661_1662delGG	c.(1660-1662)aggfs	p.R554fs	ARHGEF18_ENST00000319670.9_Frame_Shift_Del_p.R396fs|CTD-2207O23.3_ENST00000593531.1_Frame_Shift_Del_p.G512fs	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	554	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTCATCGTGAGGGAAGTGGCCA	0.54																																																	0																																										SO:0001589	frameshift_variant	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	17090	protein-coding gene	gene with protein product	"Rho-specific guanine nucleotide exchange factor p114"		"rho/rac guanine nucleotide exchange factor (GEF) 18"			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1661_1662delGG	19.37:g.7523441_7523442delGG	ENSP00000352995:p.Arg554fs		A8MV62|B5ME81|O60274|Q6DD92	Frame_Shift_Del	DEL	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E555fs	ENST00000359920.6	37	c.1661_1662	CCDS45946.1	19																																																																																			ARHGEF18	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000104880		0.54	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1		0	57	0	GG	NM_015318		7523442	1	tier1		no_errors	ENST00000359920	ensembl	human	known	74_37	frame_shift_del	35.90	25	14	DEL	1.000:1.000	-	-	7523442	GG	-	7523441	7	5	99	1	0	1	0	1	0	0	0	0	901	1000	35	0	1695	0	ARHGEF18	19	7523441	Frame_Shift_Del	DEL	GG	TCGA-LN-A49L-01A-11D-A247-09	6677225	7523441	51605542	164	28281											
ZNF653	115950	genome.wustl.edu	37	chr19	11598149	11598149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcggtggcgtccatggTgctaggctggctaccctcgg	4	10	15	12	3	0	0	0	0	0	0	2	0	1	0	2	6	4	3	2	6	3	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:11598149T>C	ENST00000293771.5	-	4	1265	c.1129A>G	c.(1129-1131)Acc>Gcc	p.T377A	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCGTCCATGGTGCTAGGCTGG	0.682																																					Pancreas(83;980 1446 4542 6441 43352)												0													72	60	64					19																	11598149		2203	4300	6503	SO:0001583	missense	0			AY072704	CCDS12261.1	19p13.2	2013-01-08						"Zinc fingers, C2H2-type"	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1129A>G	19.37:g.11598149T>C	ENSP00000293771:p.Thr377Ala		Q96AS7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T377A	ENST00000293771.5	37	c.1129	CCDS12261.1	19	.	.	.	.	.	.	.	.	.	.	T	4.298	0.054641	0.08291	.	.	ENSG00000161914	ENST00000293771	T	0.10382	2.88	4.26	2.0	0.26442	.	0.867250	0.10170	N	0.707222	T	0.04907	0.0132	N	0.08118	0	0.20403	N	0.999905	B	0.02656	0.0	B	0.01281	0.0	T	0.32877	-0.9890	10	0.41790	T	0.15	-39.8739	3.218	0.06705	0.1829:0.1922:0.0:0.6249	.	377	Q96CK0	ZN653_HUMAN	A	377	ENSP00000293771:T377A	ENSP00000293771:T377A	T	-	1	0	ZNF653	11459149	0.002000	0.14202	0.988000	0.46212	0.176000	0.22953	-0.056000	0.11787	1.686000	0.51046	0.379000	0.24179	ACC	ZNF653	-	NULL	ENSG00000161914		0.682	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	HGNC	protein_coding	OTTHUMT00000458836.2	-	0	43	0	T	NM_138783		11598149	-1	tier1	-	no_errors	ENST00000293771	ensembl	human	known	74_37	missense	10.00	90	10	SNP	0.410	C	C	11598149	T	C	11598149	3	2	99	1	0	0	0	0	1	0	0	0	18114	1696	59	4	742	4	ZNF653	19	11598149	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	4074708	11598149	47530834	165	28282											
ABHD8	79575	genome.wustl.edu	37	chr19	17411829	17411829	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctcatagcctaggcgCacaaagaagtccagctgctc	12	6	8	15	1	1	1	1	0	0	1	3	1	2	1	4	1	3	3	4	1	4	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:17411829C>G	ENST00000247706.3	-	2	836	c.597G>C	c.(595-597)gtG>gtC	p.V199V	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	199							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGCCTAGGCGCACAAAGAAGT	0.642																																					Ovarian(156;1368 2543 15275 41187)												0													67	77	73					19																	17411829		2203	4300	6503	SO:0001819	synonymous_variant	0			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.597G>C	19.37:g.17411829C>G			Q9HAE9	Silent	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.V199	ENST00000247706.3	37	c.597	CCDS12355.1	19																																																																																			ABHD8	-	prints_Epox_hydrolase-like	ENSG00000127220		0.642	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1	-	0	30	0	C	NM_024527		17411829	-1	tier1	-	no_errors	ENST00000247706	ensembl	human	known	74_37	silent	16.67	55	11	SNP	0.052	G	G	17411829	C	G	17411829	2	3	99	1	0	0	0	0	0	0	0	1	87	697	25	5		5	ABHD8	19	17411829	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	5813680	17411829	41717154	166	28283											
ABHD8	79575	genome.wustl.edu	37	chr19	17412239	17412239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggctgcatccgaggatgCggatgatggtggaggtgggg	6	8	21	6	2	0	1	0	1	0	0	1	5	1	4	1	8	2	2	1	8	0	0	rs374386420		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:17412239C>A	ENST00000247706.3	-	2	426	c.187G>T	c.(187-189)Gca>Tca	p.A63S	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000594999.1_5'Flank|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	63							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TCCGAGGATGCGGATGATGGT	0.667																																					Ovarian(156;1368 2543 15275 41187)												0													20	25	23					19																	17412239		2195	4289	6484	SO:0001583	missense	0			AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"Abhydrolase domain containing"	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.187G>T	19.37:g.17412239C>A	ENSP00000247706:p.Ala63Ser		Q9HAE9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.A63S	ENST00000247706.3	37	c.187	CCDS12355.1	19	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.211615	0.00289	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.31247	1.5	1.59	-3.18	0.05186	.	0.496656	0.14259	U	0.330929	T	0.10551	0.0258	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.06405	0.002	T	0.27088	-1.0084	10	0.16896	T	0.51	.	4.2714	0.10789	0.0:0.3731:0.4229:0.204	.	63	Q96I13	ABHD8_HUMAN	S	63;9	ENSP00000247706:A63S	ENSP00000247706:A63S	A	-	1	0	ABHD8	17273239	0.730000	0.28100	0.000000	0.03702	0.023000	0.10783	0.878000	0.28126	-0.771000	0.04608	-0.339000	0.08088	GCA	ABHD8	-	NULL	ENSG00000127220		0.667	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD8	HGNC	protein_coding	OTTHUMT00000462937.1		0	22	0	C	NM_024527		17412239	-1			no_errors	ENST00000247706	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.000	A	A	17412239	C	A	17412239	3	1	99	1	0	0	0	0	1	0	0	0	87	768	27	2	1148	2	ABHD8	19	17412239	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	410	17412239	41716744	167	28284											
SFRS14	10147	genome.wustl.edu	37	chr19	19120975	19120975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccccgccgctgccacGgaaggagtttcttcttgagg	6	8	14	13	3	2	1	0	1	2	0	2	4	2	4	4	4	2	2	4	4	1	3	rs372273190		TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:19120975G>A	ENST00000601879.1	-	5	2324	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	SUGP2_ENST00000337018.6_Missense_Mutation_p.P676L|SUGP2_ENST00000456085.2_Missense_Mutation_p.P445L|SUGP2_ENST00000452918.2_Missense_Mutation_p.P676L|SUGP2_ENST00000600377.1_Missense_Mutation_p.P690L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	676					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCGCTGCCACGGAAGGAGTTT	0.657																																																	0								G	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	78	83	81		2027,2027	5.5	0.8	19		81	0,8600		0,0,4300	no	missense,missense	SUGP2	NM_001017392.3,NM_014884.3	98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	676/1083,676/1083	19120975	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"G patch domain containing"	18641	protein-coding gene	gene with protein product		607993	"splicing factor, arginine/serine-rich 14"	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2027C>T	19.37:g.19120975G>A	ENSP00000472286:p.Pro676Leu		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.P676L	ENST00000601879.1	37	c.2027	CCDS12392.1	19	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785649	0.70337	2.27E-4	0.0	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.12984	2.77;2.84;2.77;2.63	5.49	5.49	0.81192	.	0.217967	0.32430	N	0.006118	T	0.23054	0.0557	L	0.29908	0.895	0.26417	N	0.976161	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.64506	0.926;0.926;0.894	T	0.03750	-1.1007	10	0.87932	D	0	-15.6657	12.0658	0.53588	0.0:0.0:0.8165:0.1835	.	445;676;676	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	L	676;676;676;445	ENSP00000337926:P676L;ENSP00000332373:P676L;ENSP00000389380:P676L;ENSP00000409603:P445L	ENSP00000332373:P676L	P	-	2	0	SUGP2	18981975	0.997000	0.39634	0.835000	0.33067	0.781000	0.44180	3.911000	0.56378	2.590000	0.87494	0.655000	0.94253	CCG	SUGP2	-	NULL	ENSG00000064607		0.657	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SUGP2	HGNC	protein_coding	OTTHUMT00000464627.1		0	20	0	G	NM_001017392		19120975	-1			no_errors	ENST00000337018	ensembl	human	known	74_37	missense	12.50	42	6	SNP	0.286	A	A	19120975	G	A	19120975	3	1	99	1	0	0	0	0	1	0	0	0	14215	1116	39	1	1245	1	SFRS14	19	19120975	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	1708736	19120975	40008008	168	28285											
APLP1	333	genome.wustl.edu	37	chr19	36368698	36368698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcagcagcgaggacaaggGtgggctgcagcctccagatt	9	5	17	10	1	0	1	0	0	0	1	1	3	1	2	2	4	4	4	2	4	1	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:36368698G>T	ENST00000221891.4	+	12	1715	c.1523G>T	c.(1522-1524)gGt>gTt	p.G508V	APLP1_ENST00000537454.2_Missense_Mutation_p.G469V|APLP1_ENST00000586861.1_Missense_Mutation_p.G502V|APLP1_ENST00000589298.2_3'UTR	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	508					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGACAAGGGTGGGCTGCAG	0.577																																																	0													57	56	56					19																	36368698		2203	4300	6503	SO:0001583	missense	0			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"amyloid-like protein 1", "amyloid precursor-like protein 1"	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1523G>T	19.37:g.36368698G>T	ENSP00000221891:p.Gly508Val		O00113|Q96A92	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco	p.G508V	ENST00000221891.4	37	c.1523	CCDS32997.1	19	.	.	.	.	.	.	.	.	.	.	G	5.989	0.366356	0.11352	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94232	-3.22;-3.38	5.47	3.34	0.38264	.	0.660669	0.13196	N	0.406394	D	0.84266	0.5434	N	0.08118	0	0.47245	D	0.999368	B;B;B;B	0.29432	0.244;0.004;0.006;0.003	B;B;B;B	0.31686	0.134;0.021;0.003;0.001	T	0.76334	-0.2997	10	0.33141	T	0.24	-0.2876	7.7007	0.28621	0.0878:0.1639:0.7483:0.0	.	502;469;508;508	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	V	469;508	ENSP00000441501:G469V;ENSP00000221891:G508V	ENSP00000221891:G508V	G	+	2	0	APLP1	41060538	1.000000	0.71417	0.694000	0.30210	0.273000	0.26683	1.328000	0.33758	0.693000	0.31634	-0.165000	0.13383	GGT	APLP1	-	NULL	ENSG00000105290		0.577	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	APLP1	HGNC	protein_coding	OTTHUMT00000452564.1	-	0	12	0	G	NM_001024807		36368698	1	tier1	-	no_errors	ENST00000221891	ensembl	human	known	74_37	missense	17.02	39	8	SNP	0.858	T	T	36368698	G	T	36368698	3	4	99	1	0	0	0	0	1	0	0	0	778	1261	44	3	1569	3	APLP1	19	36368698	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	17247723	36368698	22760285	169	28286											
ZNF570	148268	genome.wustl.edu	37	chr19	37975938	37975938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagaaaccttatgaaTgtactgtttgtggaaaggct	12	12	12	5	0	0	2	0	1	0	1	0	5	0	4	1	3	2	3	1	3	5	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:37975938T>C	ENST00000330173.1	+	5	1943	c.1414T>C	c.(1414-1416)Tgt>Cgt	p.C472R	CTD-2086O20.3_ENST00000591976.1_lincRNA|ZNF570_ENST00000586475.1_Missense_Mutation_p.C528R|ZNF570_ENST00000388801.3_Missense_Mutation_p.C269R	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCTTATGAATGTACTGTTTG	0.408																																																	0													108	108	108					19																	37975938		2203	4300	6503	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1414T>C	19.37:g.37975938T>C	ENSP00000331540:p.Cys472Arg		A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C472R	ENST00000330173.1	37	c.1414	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	T	17.20	3.327993	0.60743	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	D;D	0.85258	-1.96;-1.96	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000297	D	0.94751	0.8306	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96017	0.9006	10	0.87932	D	0	.	12.7631	0.57376	0.0:0.0:0.0:1.0	.	269;472	B4DMP1;Q96NI8	.;ZN570_HUMAN	R	472;269	ENSP00000331540:C472R;ENSP00000373453:C269R	ENSP00000331540:C472R	C	+	1	0	ZNF570	42667778	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.754000	0.68743	1.905000	0.55150	0.460000	0.39030	TGT	ZNF570	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.408	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0	45	0	T	NM_144694		37975938	1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	14.61	76	13	SNP	0.998	C	C	37975938	T	C	37975938	3	2	99	1	0	0	0	0	1	0	0	0	18050	1464	51	4	1428	4	ZNF570	19	37975938	Missense_Mutation	SNP	T	TCGA-LN-A49L-01A-11D-A247-09	1607240	37975938	21153045	170	28287											
PSMD8	5714	genome.wustl.edu	37	chr19	38865577	38865577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccccaatcttagcaagtgCggggaagagctgggtcgact	10	7	14	10	2	1	1	0	0	1	1	2	3	1	2	2	3	4	2	2	3	4	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:38865577C>G	ENST00000215071.4	+	1	402	c.336C>G	c.(334-336)tgC>tgG	p.C112W	PSMD8_ENST00000592035.1_5'Flank|PSMD8_ENST00000602911.1_Missense_Mutation_p.C49W	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTAGCAAGTGCGGGGAAGAGC	0.632																																																	0													19	10	13					19																	38865577		1998	4010	6008	SO:0001583	missense	0			D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"Proteasome (prosome, macropain) subunits"	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.336C>G	19.37:g.38865577C>G	ENSP00000215071:p.Cys112Trp		B4DX18|Q6P1L7	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.C112W	ENST00000215071.4	37	c.336	CCDS12515.2	19	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733129	0.69189	.	.	ENSG00000099341	ENST00000215071	.	.	.	4.91	-0.271	0.12922	.	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73839	-0.3856	9	0.87932	D	0	-30.5549	6.9147	0.24354	0.0:0.5151:0.0:0.4849	.	112	P48556	PSMD8_HUMAN	W	112	.	ENSP00000215071:C112W	C	+	3	2	PSMD8	43557417	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	0.652000	0.24888	-0.100000	0.12241	0.555000	0.69702	TGC	PSMD8	-	NULL	ENSG00000099341		0.632	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD8	HGNC	protein_coding	OTTHUMT00000319627.1	-	0	33	0	C	NM_002812		38865577	1	tier1	-	no_errors	ENST00000215071	ensembl	human	known	74_37	missense	14.43	83	14	SNP	1.000	G	G	38865577	C	G	38865577	3	3	99	1	0	0	0	0	1	0	0	0	12746	776	27	5	338	5	PSMD8	19	38865577	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	889639	38865577	20263406	171	28288											
GGN	199720	genome.wustl.edu	37	chr19	38876738	38876738	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtggtggcggaggggaGccccaaggcccagagagtgc	7	5	19	10	1	1	1	0	0	1	1	1	4	1	3	3	7	2	0	3	7	1	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:38876738G>T	ENST00000334928.6	-	3	1296	c.1164C>A	c.(1162-1164)ggC>ggA	p.G388G	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	388	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCGGAGGGGAGCCCCAAGGCC	0.731																																																	0													13	17	16					19																	38876738		2165	4211	6376	SO:0001819	synonymous_variant	0			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1164C>A	19.37:g.38876738G>T			Q7RTU6|Q86UU4|Q8NAA1	Silent	SNP	NULL	p.G388	ENST00000334928.6	37	c.1164	CCDS12516.1	19																																																																																			GGN	-	NULL	ENSG00000179168		0.731	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	-	0	15	0	G	NM_152657		38876738	-1	tier1	-	no_errors	ENST00000334928	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.990	T	T	38876738	G	T	38876738	2	4	99	1	0	0	0	0	0	0	0	1	6384	958	34	3		3	GGN	19	38876738	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	11161	38876738	20252245	172	28289											
RASGRP4	115727	genome.wustl.edu	37	chr19	38904097	38904097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatctcgtcttccgtgtaGaagaggtccagggagagctg	9	10	14	8	2	2	4	0	0	2	4	5	5	4	4	2	2	1	2	2	2	3	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:38904097G>A	ENST00000587738.1	-	10	1318	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	RASGRP4_ENST00000433821.2_Silent_p.F324F|RASGRP4_ENST00000454404.2_Silent_p.F382F|RASGRP4_ENST00000587753.1_Silent_p.F347F|RASGRP4_ENST00000293062.9_Silent_p.F319F|RASGRP4_ENST00000426920.2_Silent_p.F227F|RASGRP4_ENST00000586305.1_Silent_p.F402F			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	416	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTTCCGTGTAGAAGAGGTCCA	0.597																																																	0													30	37	35					19																	38904097		2020	4174	6194	SO:0001819	synonymous_variant	0			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"EF-hand domain containing"	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1248C>T	19.37:g.38904097G>A			A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.F416	ENST00000587738.1	37	c.1248	CCDS46068.1	19																																																																																			RASGRP4	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000171777		0.597	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	-	0	26	0	G	NM_170604		38904097	-1	tier1	-	no_errors	ENST00000587738	ensembl	human	known	74_37	silent	15.38	55	10	SNP	1.000	A	A	38904097	G	A	38904097	2	1	99	1	0	0	0	0	0	0	0	1	13122	933	33	3		3	RASGRP4	19	38904097	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	27359	38904097	20224886	173	28290											
ARHGAP35	2909	genome.wustl.edu	37	chr19	47503672	47503672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgatgagacctgatttCagcactatggacgccctcac	10	10	8	13	1	2	3	2	3	0	1	2	5	2	4	3	1	1	1	3	1	1	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:47503672C>A	ENST00000404338.3	+	6	4227	c.4227C>A	c.(4225-4227)ttC>ttA	p.F1409L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1409	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GACCTGATTTCAGCACTATGG	0.542																																																	0													258	271	266					19																	47503672		2177	4265	6442	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4227C>A	19.37:g.47503672C>A	ENSP00000385720:p.Phe1409Leu		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.F1409L	ENST00000404338.3	37	c.4227	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436252	0.62955	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.18502	2.21	5.08	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	L	0.46567	1.45	0.54753	D	0.999987	B	0.33694	0.421	B	0.23716	0.048	T	0.03212	-1.1060	10	0.56958	D	0.05	-25.2108	8.5615	0.33514	0.0:0.8212:0.0:0.1788	.	1409	Q9NRY4-2	.	L	1409	ENSP00000385720:F1409L	ENSP00000324820:F1409L	F	+	3	2	ARHGAP35	52195512	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.097000	0.50251	2.643000	0.89663	0.650000	0.86243	TTC	ARHGAP35	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000160007		0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	-	0	27	0	C	NM_004491		47503672	1	tier1	-	no_errors	ENST00000404338	ensembl	human	known	74_37	missense	40.54	22	15	SNP	1.000	A	A	47503672	C	A	47503672	3	1	99	1	0	0	0	0	1	0	0	0	6822	825	29	3	4249	3	ARHGAP35	19	47503672	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	8599575	47503672	11625311	174	28291											
ZNF880	400713	genome.wustl.edu	37	chr19	52887707	52887707	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcacagaatccacactGgagagaaaccttacaaatgt	17	8	6	10	0	2	2	2	0	0	2	3	4	3	3	2	1	2	0	2	1	4	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:52887707G>T	ENST00000422689.2	+	4	889	c.874G>T	c.(874-876)Gga>Tga	p.G292*		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	292					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AATCCACACTGGAGAGAAACC	0.398																																																	0													67	62	63					19																	52887707		1568	3582	5150	SO:0001587	stop_gained	0			BC058819	CCDS46164.1	19q13.41	2013-01-08			ENSG00000221923	ENSG00000221923		"Zinc fingers, C2H2-type", "-"	37249	protein-coding gene	gene with protein product							Standard	NM_001145434		Approved		uc002pzc.3	Q6PDB4	OTTHUMG00000167972	ENST00000422689.2:c.874G>T	19.37:g.52887707G>T	ENSP00000406318:p.Gly292*		B4DNA6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G292*	ENST00000422689.2	37	c.874	CCDS46164.1	19	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672750	0.29693	.	.	ENSG00000221923	ENST00000422689	.	.	.	2.03	-2.17	0.07059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7085	0.23264	0.38:0.0:0.62:0.0	.	.	.	.	X	292	.	.	G	+	1	0	ZNF880	57579519	0.146000	0.22672	0.008000	0.14137	0.214000	0.24535	2.459000	0.45023	-0.649000	0.05430	-0.271000	0.10264	GGA	ZNF880	-	pfscan_Znf_C2H2	ENSG00000221923		0.398	ZNF880-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF880	HGNC	protein_coding	OTTHUMT00000397374.1	-	0	45	0	G	NM_001145434		52887707	1	tier1	-	no_errors	ENST00000422689	ensembl	human	known	74_37	nonsense	36.96	29	17	SNP	0.998	T	T	52887707	G	T	52887707	4	4	99	1	0	0	0	0	0	1	0	0	18245	1349	47	3	888	3	ZNF880	19	52887707	Nonsense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	5384035	52887707	6241276	175	28292											
GP6	51206	genome.wustl.edu	37	chr19	55526285	55526286	+	3'UTR	DNP	GC	GC	AA																															acgaccgtgcctggggttcaGcggtcatgaacataacccgc																										TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:55526285_55526286GC>AA	ENST00000417454.1	-	0	1050_1051				CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000310373.3_Missense_Mutation_p.A343F|GP6_ENST00000333884.2_3'UTR|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)						blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CTGGGGTTCAGCGGTCATGAAC	0.634																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.1018_1018delinsAA	19.37:g.55526285_55526286delinsAA			Q9HCN7|Q9UIF2	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2	p.A343V|p.A343S	ENST00000417454.1	37	c.1028|c.1027	CCDS46184.1	19																																																																																			GP6	-	NULL	ENSG00000088053		0.634	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	HGNC	protein_coding	OTTHUMT00000357006.1	-	0	54	0	G|C			55526285|55526286	-1	tier1	-	no_errors	ENST00000310373	ensembl	human	known	74_37	missense	73.58|75.47	14|13	39|40	SNP	0.000	A	AA	55526286	GC	AA	55526285	1	1	99	0	1	0	0	0	0	0	0	0	6610	971	34	3		3	GP6	19	55526285	3'UTR	DNP	GC	TCGA-LN-A49L-01A-11D-A247-09	2638578	55526285	3602698	176	28293											
NLRP13	126204	genome.wustl.edu	37	chr19	56416358	56416358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagggccgcacacaatagCtttatgccatcatcttggag	10	10	10	11	1	3	0	2	0	1	0	3	1	3	1	2	2	2	2	2	2	3	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:56416358C>T	ENST00000342929.3	-	8	2567	c.2568G>A	c.(2566-2568)aaG>aaA	p.K856K	NLRP13_ENST00000588751.1_Silent_p.K856K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	856							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CACACAATAGCTTTATGCCAT	0.493																																																	0													141	112	122					19																	56416358		2203	4300	6503	SO:0001819	synonymous_variant	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2568G>A	19.37:g.56416358C>T			Q7RTR5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K856	ENST00000342929.3	37	c.2568	CCDS33119.1	19																																																																																			NLRP13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000173572		0.493	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	-	0	42	0	C	NM_176810		56416358	-1	tier1	-	no_errors	ENST00000342929	ensembl	human	known	74_37	silent	96.23	2	51	SNP	0.000	T	T	56416358	C	T	56416358	2	4	99	1	0	0	0	0	0	0	0	1	10514	796	28	3		3	NLRP13	19	56416358	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	890073	56416358	2712625	177	28294											
NLRP13	126204	genome.wustl.edu	37	chr19	56424072	56424072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcactaatgaggccttaaGatctctcacaaaccaggtct	13	11	6	11	0	4	2	2	1	2	1	5	2	4	2	2	2	1	0	2	2	3	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:56424072G>T	ENST00000342929.3	-	5	1110	c.1111C>A	c.(1111-1113)Ctt>Att	p.L371I	NLRP13_ENST00000588751.1_Missense_Mutation_p.L371I	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	371	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGGCCTTAAGATCTCTCACA	0.448																																																	0													120	114	116					19																	56424072		2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"Nucleotide-binding domain and leucine rich repeat containing"	22937	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"	609660	"NACHT, leucine rich repeat and PYD containing 13"	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1111C>A	19.37:g.56424072G>T	ENSP00000343891:p.Leu371Ile		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L371I	ENST00000342929.3	37	c.1111	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940565	0.34283	.	.	ENSG00000173572	ENST00000342929	T	0.79940	-1.32	2.81	0.181	0.15073	.	.	.	.	.	T	0.81522	0.4840	L	0.46157	1.445	0.09310	N	1	D	0.69078	0.997	D	0.68765	0.96	T	0.67409	-0.5678	9	0.56958	D	0.05	.	2.8295	0.05495	0.1636:0.0:0.5641:0.2724	.	371	Q86W25	NAL13_HUMAN	I	371	ENSP00000343891:L371I	ENSP00000343891:L371I	L	-	1	0	NLRP13	61115884	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	0.633000	0.24598	0.491000	0.27793	0.591000	0.81541	CTT	NLRP13	-	NULL	ENSG00000173572		0.448	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	-	0	38	0	G	NM_176810		56424072	-1	tier1	-	no_errors	ENST00000342929	ensembl	human	known	74_37	missense	31.37	35	16	SNP	0.000	T	T	56424072	G	T	56424072	3	4	99	1	0	0	0	0	1	0	0	0	10514	942	33	3	2046	3	NLRP13	19	56424072	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	7714	56424072	2704911	178	28295											
ZNF749	388567	genome.wustl.edu	37	chr19	57955810	57955810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcagcatctgaaaattCatactggagaacggccttat	12	13	8	8	1	3	2	2	1	1	1	3	3	3	2	1	2	3	2	1	2	5	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr19:57955810C>A	ENST00000334181.4	+	3	1544	c.1294C>A	c.(1294-1296)Cat>Aat	p.H432N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCTGAAAATTCATACTGGAGA	0.428																																																	0													86	84	85					19																	57955810		2203	4300	6503	SO:0001583	missense	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1294C>A	19.37:g.57955810C>A	ENSP00000333980:p.His432Asn			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H432N	ENST00000334181.4	37	c.1294	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180066	0.57800	.	.	ENSG00000186230	ENST00000334181	T	0.67345	-0.26	1.82	1.82	0.25136	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83055	0.5171	M	0.90870	3.155	0.31274	N	0.69138	D	0.76494	0.999	D	0.71414	0.973	T	0.82478	-0.0437	9	0.87932	D	0	.	11.2942	0.49269	0.0:1.0:0.0:0.0	.	432	O43361	ZN749_HUMAN	N	432	ENSP00000333980:H432N	ENSP00000333980:H432N	H	+	1	0	ZNF749	62647622	0.980000	0.34600	0.090000	0.20809	0.244000	0.25665	4.395000	0.59678	1.310000	0.45006	0.460000	0.39030	CAT	ZNF749	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186230		0.428	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	-	0	40	0	C	NM_001023561		57955810	1	tier1	-	no_errors	ENST00000334181	ensembl	human	known	74_37	missense	63.83	17	30	SNP	0.995	A	A	57955810	C	A	57955810	3	1	99	1	0	0	0	0	1	0	0	0	18179	826	29	3	1304	3	ZNF749	19	57955810	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	1531738	57955810	1173173	179	28296											
C20orf27	54976	genome.wustl.edu	37	chr20	3734755	3734755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcgtattccagctcggCgcccacacacttgacaccat	9	9	8	15	3	0	2	0	2	0	0	3	2	1	2	3	1	1	2	3	1	1	3			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr20:3734755C>A	ENST00000379772.3	-	6	1285	c.475G>T	c.(475-477)Gcc>Tcc	p.A159S	C20orf27_ENST00000217195.8_Missense_Mutation_p.A184S	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	159										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TCCAGCTCGGCGCCCACACAC	0.682																																																	0													55	44	48					20																	3734755		2203	4300	6503	SO:0001583	missense	0			AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"hypothetical protein LOC54976"					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.475G>T	20.37:g.3734755C>A	ENSP00000369097:p.Ala159Ser		A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	NULL	p.A184S	ENST00000379772.3	37	c.550	CCDS58763.1	20	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761617	0.69763	.	.	ENSG00000101220	ENST00000379772;ENST00000217195;ENST00000399672;ENST00000379765	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	T	0.47358	0.1441	L	0.44542	1.39	0.38372	D	0.944905	P;P	0.48640	0.67;0.913	B;P	0.44623	0.233;0.455	T	0.54912	-0.8222	8	0.66056	D	0.02	-5.5331	9.4974	0.38997	0.0:0.907:0.0:0.093	.	159;184	Q9GZN8;Q9GZN8-2	CT027_HUMAN;.	S	159;184;159;118	.	ENSP00000217195:A184S	A	-	1	0	C20orf27	3682755	0.955000	0.32602	0.974000	0.42286	0.997000	0.91878	2.312000	0.43726	2.666000	0.90696	0.655000	0.94253	GCC	C20orf27	-	NULL	ENSG00000101220		0.682	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf27	HGNC	protein_coding	OTTHUMT00000077750.2	-	0	15	0	C	NM_001039140		3734755	-1	tier1	-	no_errors	ENST00000217195	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.997	A	A	3734755	C	A	3734755	3	1	99	1	0	0	0	0	1	0	0	0	2114	768	27	2	53	2	C20orf27	20	3734755	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09		3734755	59290765	180	28297											
MAP1LC3A	84557	genome.wustl.edu	37	chr20	33147159	33147159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgctcccaggtgatcatCgagcgctacaagggtgagaa	10	7	12	12	2	1	2	1	2	0	1	3	4	2	2	2	2	3	2	2	2	3	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr20:33147159C>T	ENST00000360668.3	+	3	866	c.105C>T	c.(103-105)atC>atT	p.I35I	MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Silent_p.I39I|MAP1LC3A_ENST00000397709.1_Silent_p.I35I			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	35					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGGTGATCATCGAGCGCTACA	0.647																																																	0													35	35	35					20																	33147159		2195	4290	6485	SO:0001819	synonymous_variant	0				CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.105C>T	20.37:g.33147159C>T			E1P5P4|E1P5P5|Q9BXW5	Silent	SNP	pfam_Atg8_fam,pfam_Atg12	p.I35	ENST00000360668.3	37	c.105	CCDS13238.1	20																																																																																			MAP1LC3A	-	pfam_Atg8_fam	ENSG00000101460		0.647	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3A	HGNC	protein_coding	OTTHUMT00000078801.2	-	0	9	0	C	NM_181509		33147159	1	tier1	-	no_errors	ENST00000360668	ensembl	human	known	74_37	silent	50.00	12	12	SNP	0.870	T	T	33147159	C	T	33147159	2	4	99	1	0	0	0	0	0	0	0	1	9268	874	31	1		1	MAP1LC3A	20	33147159	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	29412404	33147159	29878361	181	28298											
ZSWIM1	90204	genome.wustl.edu	37	chr20	44511684	44511684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctggtggatcctcatttCcttccactgcctatcctagc	6	14	6	15	0	1	0	1	0	0	0	6	1	6	1	6	2	2	0	6	2	2	4			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr20:44511684C>A	ENST00000372523.1	+	2	548	c.453C>A	c.(451-453)ttC>ttA	p.F151L	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.F151L	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	151						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				ATCCTCATTTCCTTCCACTGC	0.502																																																	0													122	111	115					20																	44511684		2203	4300	6503	SO:0001583	missense	0			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"Zinc fingers, SWIM-type"	16155	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 162"	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.453C>A	20.37:g.44511684C>A	ENSP00000361601:p.Phe151Leu		Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	pfam_Znf_SWIM,pfscan_Znf_SWIM	p.F151L	ENST00000372523.1	37	c.453	CCDS13382.2	20	.	.	.	.	.	.	.	.	.	.	C	6.067	0.380724	0.11466	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.24723	1.84;1.84	5.38	2.45	0.29901	.	0.122041	0.35207	U	0.003368	T	0.20901	0.0503	L	0.58810	1.83	0.09310	N	0.999997	P	0.48294	0.908	B	0.38106	0.265	T	0.12066	-1.0562	10	0.35671	T	0.21	-15.619	8.5356	0.33362	0.0:0.7046:0.0:0.2954	.	151	Q9BR11	ZSWM1_HUMAN	L	151	ENSP00000361601:F151L;ENSP00000361598:F151L	ENSP00000361598:F151L	F	+	3	2	ZSWIM1	43945091	0.111000	0.22076	0.795000	0.32087	0.025000	0.11179	0.646000	0.24797	0.419000	0.25927	-0.140000	0.14226	TTC	ZSWIM1	-	NULL	ENSG00000168612		0.502	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM1	HGNC	protein_coding	OTTHUMT00000157064.2	-	0	29	0	C	NM_080603		44511684	1	tier1	-	no_errors	ENST00000372520	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.229	A	A	44511684	C	A	44511684	3	1	99	1	0	0	0	0	1	0	0	0	18288	854	30	3	455	3	ZSWIM1	20	44511684	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	11364525	44511684	18513836	182	28299											
PCBP3	54039	genome.wustl.edu	37	chr21	47316257	47316257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgaccctcaccatccGcctgctgatgcatggaaagg	10	8	11	12	1	1	2	1	2	0	0	2	4	2	3	4	2	2	2	4	2	2	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr21:47316257G>A	ENST00000400314.1	+	4	484	c.146G>A	c.(145-147)cGc>cAc	p.R49H	PCBP3_ENST00000400304.1_Missense_Mutation_p.R17H|PCBP3_ENST00000400310.1_Missense_Mutation_p.R49H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R49H|PCBP3_ENST00000449640.1_Missense_Mutation_p.R49H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R49H			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	49	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CTCACCATCCGCCTGCTGATG	0.582																																																	0													41	48	46					21																	47316257		1897	3903	5800	SO:0001583	missense	0			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"poly(rC)-binding protein 3"			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.146G>A	21.37:g.47316257G>A	ENSP00000383168:p.Arg49His		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.R49H	ENST00000400314.1	37	c.146	CCDS42974.2	21	.	.	.	.	.	.	.	.	.	.	G	33	5.264606	0.95399	.	.	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.08	5.08	0.68730	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.91818	3.245	0.80722	D	1	P;D;D;D;P;D;D	0.89917	0.899;0.976;1.0;0.997;0.877;0.999;0.995	P;P;D;P;P;D;D	0.73708	0.694;0.556;0.981;0.907;0.52;0.969;0.943	T	0.77267	-0.2651	10	0.87932	D	0	-13.4921	18.4955	0.90864	0.0:0.0:1.0:0.0	.	17;49;17;49;49;49;49	Q5MJP6;P57721-3;E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;.;.;PCBP3_HUMAN;.	H	49;49;49;49;49;49;25;17	ENSP00000383168:R49H;ENSP00000383165:R49H;ENSP00000383164:R49H;ENSP00000383163:R49H;ENSP00000401198:R49H;ENSP00000383160:R25H;ENSP00000383159:R17H	ENSP00000330225:R49H	R	+	2	0	PCBP3	46140685	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.157000	0.94714	2.538000	0.85594	0.643000	0.83706	CGC	PCBP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000183570		0.582	PCBP3-001	KNOWN	basic|CCDS	protein_coding	PCBP3	HGNC	protein_coding	OTTHUMT00000206808.2	-	0	61	0	G			47316257	1	tier1	-	no_errors	ENST00000400314	ensembl	human	known	74_37	missense	51.75	55	59	SNP	1.000	A	A	47316257	G	A	47316257	3	1	99	1	0	0	0	0	1	0	0	0	11541	1087	38	1	152	1	PCBP3	21	47316257	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		47316257	813638	183	28300											
C21orf56	84221	genome.wustl.edu	37	chr21	47588410	47588410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgtggctctgggggaCtgaggaaggccttgaagggt	7	9	19	6	0	1	2	0	2	1	0	1	4	1	4	1	7	0	2	1	7	3	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr21:47588410C>G	ENST00000291672.5	-	3	1417	c.356G>C	c.(355-357)aGt>aCt	p.S119T	SPATC1L_ENST00000330205.6_5'UTR	NM_001142854.1	NP_001136326.1	Q9H0A9	SPC1L_HUMAN	spermatogenesis and centriole associated 1-like	119																	CTCTGGGGGACTGAGGAAGGC	0.667																																																	0													48	50	49					21																	47588410		692	1591	2283	SO:0001583	missense	0			BC009497	CCDS13732.1, CCDS46653.1	21q22.3	2013-01-21	2012-11-12	2012-11-12	ENSG00000160284	ENSG00000160284			1298	protein-coding gene	gene with protein product	"speriolin-like protein"	612412	"chromosome 21 open reading frame 56"	C21orf56			Standard	NM_032261		Approved		uc011afu.2	Q9H0A9	OTTHUMG00000090487	ENST00000291672.5:c.356G>C	21.37:g.47588410C>G	ENSP00000291672:p.Ser119Thr		B4E323|Q52LS9|Q6FIH5|Q6P0L3|Q9NSE5	Missense_Mutation	SNP	NULL	p.S119T	ENST00000291672.5	37	c.356	CCDS46653.1	21	.	.	.	.	.	.	.	.	.	.	C	1.769	-0.484911	0.04352	.	.	ENSG00000160284	ENST00000291672	T	0.39997	1.05	5.31	3.5	0.40072	.	0.214229	0.32753	N	0.005688	T	0.25306	0.0615	N	0.24115	0.695	0.09310	N	1	P	0.35982	0.531	B	0.35278	0.199	T	0.10497	-1.0627	10	0.22706	T	0.39	-18.6643	8.1153	0.30940	0.0:0.813:0.0:0.187	.	119	Q9H0A9	CU056_HUMAN	T	119	ENSP00000291672:S119T	ENSP00000291672:S119T	S	-	2	0	C21orf56	46412838	0.001000	0.12720	0.022000	0.16811	0.078000	0.17371	-0.014000	0.12656	0.635000	0.30488	0.467000	0.42956	AGT	SPATC1L	-	NULL	ENSG00000160284		0.667	SPATC1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATC1L	HGNC	protein_coding	OTTHUMT00000376654.1	-	0	32	0	C	NM_032261		47588410	-1	tier1	-	no_errors	ENST00000291672	ensembl	human	known	74_37	missense	14.29	36	6	SNP	0.066	G	G	47588410	C	G	47588410	3	3	99	1	0	0	0	0	1	0	0	0	2134	565	20	5	678	5	C21orf56	21	47588410	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	272153	47588410	541485	184	28301											
PI4KA	5297	genome.wustl.edu	37	chr22	21064264	21064264	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatgagagtgaccagggaGacgaccgcgtccatgtaggg	12	5	15	9	3	0	3	0	2	0	2	1	6	1	3	3	2	1	1	3	2	2	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr22:21064264G>C	ENST00000572273.1	-	53	6161	c.5931C>G	c.(5929-5931)gtC>gtG	p.V1977V	PI4KA_ENST00000255882.6_Silent_p.V2035V|PI4KA_ENST00000414196.3_Silent_p.V787V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1977	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGACCAGGGAGACGACCGCGT	0.617																																					GBM(136;1332 1831 3115 23601 50806)												0													123	96	105					22																	21064264		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5931C>G	22.37:g.21064264G>C			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.V2035	ENST00000572273.1	37	c.6105		22																																																																																			PI4KA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000241973		0.617	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	48	0	G	NM_058004		21064264	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	30.00	35	15	SNP	1.000	C	C	21064264	G	C	21064264	2	2	99	1	0	0	0	0	0	0	0	1	11912	929	33	5		5	PI4KA	22	21064264	Silent	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		21064264	30240302	185	28302											
SEC14L2	23541	genome.wustl.edu	37	chr22	30812056	30812056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagtggagtatgagatcctCttccctggctgtgtcctcag	7	12	11	11	0	2	1	1	1	1	1	5	3	5	2	3	2	0	2	3	2	2	2			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr22:30812056C>T	ENST00000312932.9	+	10	1151	c.891C>T	c.(889-891)ctC>ctT	p.L297L	RP4-539M6.19_ENST00000439838.1_Silent_p.L131L|SEC14L2_ENST00000405717.3_Silent_p.L297L|SEC14L2_ENST00000403484.1_Silent_p.L223L|SEC14L2_ENST00000402592.3_Silent_p.L214L	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	297	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	ATGAGATCCTCTTCCCTGGCT	0.557																																																	0													92	88	89					22																	30812056		2203	4300	6503	SO:0001819	synonymous_variant	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"supernatant protein factor"	607558	"SEC14 (S. cerevisiae)-like 2"	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.891C>T	22.37:g.30812056C>T			B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L297	ENST00000312932.9	37	c.891	CCDS13876.1	22																																																																																			SEC14L2	-	superfamily_GOLD,pfscan_GOLD	ENSG00000100003		0.557	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	-	0	34	0	C	NM_012429		30812056	1	tier1	-	no_errors	ENST00000312932	ensembl	human	known	74_37	silent	72.73	12	32	SNP	1.000	T	T	30812056	C	T	30812056	2	4	99	1	0	0	0	0	0	0	0	1	14027	900	32	3		3	SEC14L2	22	30812056	Silent	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	9747792	30812056	20492510	186	28303											
MICALL1	85377	genome.wustl.edu	37	chr22	38333778	38333778	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaggaagacaagatgttgGaagccatgatcaagaagaaa	20	5	12	4	0	1	6	1	1	0	5	1	8	1	8	1	2	1	1	1	2	7	1			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr22:38333778G>T	ENST00000215957.6	+	15	2575	c.2449G>T	c.(2449-2451)Gaa>Taa	p.E817*	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	817	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.		E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.E817K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CAAGATGTTGGAAGCCATGAT	0.542																																																	1	Substitution - Missense(1)	breast(1)											225	192	203					22																	38333778		2203	4300	6503	SO:0001587	stop_gained	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2449G>T	22.37:g.38333778G>T	ENSP00000215957:p.Glu817*		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Nonsense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.E817*	ENST00000215957.6	37	c.2449	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	G	44	10.997397	0.99500	.	.	ENSG00000100139	ENST00000215957;ENST00000402631;ENST00000424008	.	.	.	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.3011	0.94144	0.0:0.0:1.0:0.0	.	.	.	.	X	817;244;131	.	ENSP00000215957:E817X	E	+	1	0	MICALL1	36663724	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.423000	0.80229	2.564000	0.86499	0.591000	0.81541	GAA	MICALL1	-	pfam_DUF3585	ENSG00000100139		0.542	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	-	0	27	0	G	NM_033386		38333778	1	tier1	-	no_errors	ENST00000215957	ensembl	human	known	74_37	nonsense	16.67	25	5	SNP	1.000	T	T	38333778	G	T	38333778	4	4	99	1	0	0	0	0	0	1	0	0	9611	1175	41	3	2507	3	MICALL1	22	38333778	Nonsense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	7521722	38333778	12970788	187	28304											
CHKB	1120	genome.wustl.edu	37	chr22	51018462	51018462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaaggccattcctcgtGagtataatcataaacccact	14	10	7	10	1	1	2	1	1	0	1	3	2	2	2	3	1	1	2	3	1	6	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chr22:51018462G>T	ENST00000406938.2	-	8	1085	c.868C>A	c.(868-870)Cac>Aac	p.H290N	CPT1B_ENST00000405237.3_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000360719.2_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	290					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CATTCCTCGTGAGTATAATCA	0.532																																																	0													95	100	99					22																	51018462		2203	4300	6503	SO:0001583	missense	0			AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"choline kinase-like"	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.868C>A	22.37:g.51018462G>T	ENSP00000384400:p.His290Asn		A0PJM6|Q13388	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.H290N	ENST00000406938.2	37	c.868	CCDS14099.1	22	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374845	0.42105	.	.	ENSG00000100288	ENST00000406938	T	0.51574	0.7	5.11	2.98	0.34508	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.116130	0.64402	D	0.000013	T	0.44871	0.1314	L	0.44542	1.39	0.27150	N	0.961421	B	0.31318	0.319	B	0.43274	0.414	T	0.37686	-0.9695	10	0.27785	T	0.31	-19.3067	9.2624	0.37621	0.1882:0.0:0.8118:0.0	.	290	Q9Y259	CHKB_HUMAN	N	290	ENSP00000384400:H290N	ENSP00000384400:H290N	H	-	1	0	CHKB	49365328	0.738000	0.28186	0.889000	0.34880	0.989000	0.77384	1.271000	0.33098	1.116000	0.41820	0.655000	0.94253	CAC	CHKB	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000100288		0.532	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHKB	HGNC	protein_coding	OTTHUMT00000317267.3		0	46	0	G	NM_005198		51018462	-1			no_errors	ENST00000406938	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.720	T	T	51018462	G	T	51018462	3	4	99	1	0	0	0	0	1	0	0	0	3355	1290	45	3	335	3	CHKB	22	51018462	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09	12684684	51018462	286104	188	28305											
WDR13	64743	genome.wustl.edu	37	chrX	48458003	48458003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcgtggtgcccacgtcaGcagcagaggcaagtcgggcc	8	4	16	13	3	1	1	1	0	0	1	2	1	1	1	2	3	4	4	2	3	1	0			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chrX:48458003G>T	ENST00000218056.5	+	4	926	c.421G>T	c.(421-423)Gca>Tca	p.A141S	WDR13_ENST00000376729.5_Missense_Mutation_p.A141S|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	141						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCCCACGTCAGCAGCAGAGGC	0.612																																																	0													82	71	74					X																	48458003		2203	4300	6503	SO:0001583	missense	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"WD repeat domain containing"	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.421G>T	X.37:g.48458003G>T	ENSP00000218056:p.Ala141Ser		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A141S	ENST00000218056.5	37	c.421	CCDS14302.1	X	.	.	.	.	.	.	.	.	.	.	G	9.679	1.148912	0.21288	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.70516	-0.49;-0.49	5.48	4.62	0.57501	.	0.247539	0.40064	N	0.001190	T	0.50633	0.1627	L	0.29908	0.895	0.23751	N	0.996944	B;B	0.23937	0.094;0.011	B;B	0.20767	0.031;0.014	T	0.35450	-0.9788	10	0.06757	T	0.87	-6.7095	6.9745	0.24666	0.0955:0.1709:0.7336:0.0	.	19;141	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	S	141	ENSP00000365919:A141S;ENSP00000218056:A141S	ENSP00000218056:A141S	A	+	1	0	WDR13	48342947	1.000000	0.71417	0.011000	0.14972	0.846000	0.48090	6.707000	0.74654	1.077000	0.40990	0.529000	0.55759	GCA	WDR13	-	NULL	ENSG00000101940		0.612	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2		0	16	0	G			48458003	1			no_errors	ENST00000218056	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.892	T	T	48458003	G	T	48458003	3	4	99	1	0	0	0	0	1	0	0	0	17324	971	34	3	435	3	WDR13	23	48458003	Missense_Mutation	SNP	G	TCGA-LN-A49L-01A-11D-A247-09		48458003	106812557	189	28306											
HEPH	9843	genome.wustl.edu	37	chrX	65411972	65411972	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataatgttcttccttcagAtggcatgcaggcactctaca	10	12	7	12	0	3	1	1	0	2	1	4	1	4	1	2	2	2	4	2	2	2	5			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chrX:65411972A>T	ENST00000343002.2	+	6	1728	c.1064A>T	c.(1063-1065)gAt>gTt	p.D355V	HEPH_ENST00000419594.1_Splice_Site_p.D358V|HEPH_ENST00000336279.5_Splice_Site_p.D88V|HEPH_ENST00000374727.3_Splice_Site_p.D358V|HEPH_ENST00000441993.2_Splice_Site_p.D358V|HEPH_ENST00000519389.1_Splice_Site_p.D409V			Q9BQS7	HEPH_HUMAN	hephaestin	355	Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTTCCTTCAGATGGCATGCAG	0.507																																																	0													102	82	88					X																	65411972		2203	4300	6503	SO:0001630	splice_region_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1064-1A>T	X.37:g.65411972A>T			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.D409V	ENST00000343002.2	37	c.1226		X	.	.	.	.	.	.	.	.	.	.	A	12.08	1.831616	0.32329	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.03	3.63	0.41609	Cupredoxin (2);	0.196571	0.44483	D	0.000454	D	0.98573	0.9523	L	0.50333	1.59	0.50632	D	0.99988	B;B;B	0.23058	0.009;0.079;0.061	B;B;B	0.23150	0.007;0.025;0.044	D	0.97092	0.9791	9	.	.	.	.	3.607	0.08046	0.551:0.1895:0.2595:0.0	.	409;358;355	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	V	409;358;88;358;358;355;355	ENSP00000430620:D409V;ENSP00000363859:D358V;ENSP00000337418:D88V;ENSP00000411687:D358V;ENSP00000413211:D358V;ENSP00000343939:D355V;ENSP00000398078:D355V	.	D	+	2	0	HEPH	65328697	1.000000	0.71417	0.978000	0.43139	0.914000	0.54420	0.959000	0.29240	0.450000	0.26774	0.430000	0.28490	GAT	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	0	20	0	A	NM_138737	Missense_Mutation	65411972	1	tier1	-	no_errors	ENST00000519389	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	T	T	65411972	A	T	65411972	5	4	99	1	0	0	0	0	0	0	1	0	7081	347	12	5	1252	5	HEPH	23	65411972	Splice_Site	SNP	A	TCGA-LN-A49L-01A-11D-A247-09	16953969	65411972	89858588	190	28307											
MUM1L1	139221	genome.wustl.edu	37	chrX	105450626	105450626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatagtctggtttaaatatCagaaatatccattttggcca	13	15	7	6	0	2	2	1	1	1	1	3	2	3	2	2	2	0	1	2	2	6	7			TCGA-LN-A49L-01A-11D-A247-09	TCGA-LN-A49L-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8c1f9eac-d7fb-4794-86f4-1d9c383868b2	eff182c7-0675-4fad-85ef-f59a124a8880	g.chrX:105450626C>G	ENST00000357175.2	+	4	1850	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E	MUM1L1_ENST00000337685.2_Missense_Mutation_p.Q401E|MUM1L1_ENST00000372552.1_Missense_Mutation_p.Q401E	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	401	PWWP.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GTTTAAATATCAGAAATATCC	0.358																																																	0													39	33	35					X																	105450626		1835	4078	5913	SO:0001583	missense	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1201C>G	X.37:g.105450626C>G	ENSP00000349699:p.Gln401Glu		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.Q401E	ENST00000357175.2	37	c.1201	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298711	0.23650	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.69306	-0.39;-0.39;-0.39	4.31	-1.21	0.09524	.	0.280487	0.25433	N	0.030701	T	0.60856	0.2301	L	0.58810	1.83	0.29550	N	0.851401	B	0.32101	0.356	B	0.35182	0.197	T	0.60647	-0.7222	10	0.72032	D	0.01	-9.0154	12.1757	0.54184	0.75:0.25:0.0:0.0	.	401	Q5H9M0	MUML1_HUMAN	E	401	ENSP00000349699:Q401E;ENSP00000338641:Q401E;ENSP00000361632:Q401E	ENSP00000338641:Q401E	Q	+	1	0	MUM1L1	105337282	0.117000	0.22190	0.927000	0.36925	0.917000	0.54804	-0.186000	0.09670	-0.398000	0.07679	0.529000	0.55759	CAG	MUM1L1	-	NULL	ENSG00000157502		0.358	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	-	0	24	0	C	NM_152423		105450626	1	tier1	-	no_errors	ENST00000337685	ensembl	human	known	74_37	missense	51.92	25	27	SNP	0.927	G	G	105450626	C	G	105450626	3	3	99	1	0	0	0	0	1	0	0	0	10024	827	29	5	1203	5	MUM1L1	23	105450626	Missense_Mutation	SNP	C	TCGA-LN-A49L-01A-11D-A247-09	40038654	105450626	49819934	191	28308											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6530391	6530391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggatgggcgctgtcaagtCcaggtgcagaaattccttca	10	9	13	9	1	2	1	2	0	0	1	4	2	4	2	2	3	1	2	2	3	2	2	rs200641225		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:6530391C>G	ENST00000400915.3	-	17	1939	c.1873G>C	c.(1873-1875)Gac>Cac	p.D625H	PLEKHG5_ENST00000377748.1_Missense_Mutation_p.D646H|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.D569H|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.D569H|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.D569H|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.D638H|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.D569H|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.D648H|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.D569H|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.D569H|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.D646H|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.D606H	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	625					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCTGTCAAGTCCAGGTGCAGA	0.622																																																	0													93	87	89					1																	6530391		2203	4300	6503	SO:0001583	missense	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1873G>C	1.37:g.6530391C>G	ENSP00000383706:p.Asp625His		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D648H	ENST00000400915.3	37	c.1942	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134304	0.77662	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.33	4.41	0.53225	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.84948	2.725	0.80722	D	1	P;D;D;D;D	0.89917	0.864;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.88;0.999;0.989;1.0;0.999	T	0.63924	-0.6527	10	0.87932	D	0	-41.8034	12.1574	0.54085	0.0:0.916:0.0:0.084	.	638;569;646;646;625	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	H	646;569;569;625;646;606;569;569;638;569;475;648;569	ENSP00000366977:D646H;ENSP00000344570:D569H;ENSP00000383704:D569H;ENSP00000383706:D625H;ENSP00000366969:D646H;ENSP00000366961:D606H;ENSP00000366957:D569H;ENSP00000366954:D569H;ENSP00000441445:D638H;ENSP00000366966:D569H;ENSP00000439625:D648H;ENSP00000437710:D569H	ENSP00000344570:D569H	D	-	1	0	PLEKHG5	6452978	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.507000	0.66999	2.490000	0.84030	0.462000	0.41574	GAC	PLEKHG5	-	NULL	ENSG00000171680		0.622	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	-	0	41	0	C	NM_020631		6530391	-1	tier1	-	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	38.98	36	23	SNP	1.000	G	G	6530391	C	G	6530391	3	3	100	1	0	0	0	0	1	0	0	0	12112	855	30	5	1339	5	PLEKHG5	1	6530391	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09		6530391	242720230	1	28309											
MTOR	2475	genome.wustl.edu	37	chr1	11288958	11288958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccatgttgaccagcatttCactagtgctatagtcagcta	10	13	7	11	0	2	1	2	1	0	0	3	1	3	1	2	0	3	4	2	0	4	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:11288958C>T	ENST00000361445.4	-	19	2873	c.2797G>A	c.(2797-2799)Gaa>Aaa	p.E933K	RNU6-291P_ENST00000384720.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	933					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACCAGCATTTCACTAGTGCTA	0.488																																																	0													165	137	147					1																	11288958		2203	4300	6503	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"FK506 binding protein 12-rapamycin associated protein 2", "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"	601231	"FK506 binding protein 12-rapamycin associated protein 1"	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2797G>A	1.37:g.11288958C>T	ENSP00000354558:p.Glu933Lys		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E933K	ENST00000361445.4	37	c.2797	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675124	0.88445	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.08634	3.07	5.19	5.19	0.71726	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	M	0.81802	2.56	0.80722	D	1	P	0.47841	0.901	P	0.49361	0.608	T	0.01146	-1.1437	10	0.44086	T	0.13	-16.1765	19.0565	0.93067	0.0:1.0:0.0:0.0	.	933	P42345	MTOR_HUMAN	K	933	ENSP00000354558:E933K	ENSP00000354558:E933K	E	-	1	0	MTOR	11211545	1.000000	0.71417	0.995000	0.50966	0.943000	0.58893	7.204000	0.77872	2.584000	0.87258	0.591000	0.81541	GAA	MTOR	-	pfam_DUF3385_TOR,superfamily_ARM-type_fold	ENSG00000198793		0.488	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0	67	0	C	NM_004958		11288958	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	27.38	61	23	SNP	1.000	T	T	11288958	C	T	11288958	3	4	100	1	0	0	0	0	1	0	0	0	9992	835	29	3	5012	3	MTOR	1	11288958	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	4758567	11288958	237961663	2	28310											
ZBTB17	7709	genome.wustl.edu	37	chr1	16271287	16271287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcccccgtgtggatgcgGatgtgccgcttgaagttccc	4	12	12	13	3	1	1	0	1	1	0	3	3	2	3	4	2	2	2	4	2	1	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:16271287G>A	ENST00000375743.4	-	8	1207	c.975C>T	c.(973-975)atC>atT	p.I325I	ZBTB17_ENST00000537142.1_Silent_p.I243I|ZBTB17_ENST00000448462.2_Silent_p.I262I|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000375733.2_Silent_p.I325I	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	325					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGATGCGGATGTGCCGCT	0.657																																																	0													42	42	42					1																	16271287		2202	4300	6502	SO:0001819	synonymous_variant	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12936	protein-coding gene	gene with protein product		604084	"zinc finger protein 151 (pHZ-67)", "zinc finger protein 60"	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.975C>T	1.37:g.16271287G>A			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I325	ENST00000375743.4	37	c.975	CCDS165.1	1																																																																																			ZBTB17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000116809		0.657	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1		0	9	0	G	NM_003443		16271287	-1			no_errors	ENST00000375733	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	A	A	16271287	G	A	16271287	2	1	100	1	0	0	0	0	0	0	0	1	17575	1164	41	3		3	ZBTB17	1	16271287	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	4982329	16271287	232979334	3	28311											
PAX7	5081	genome.wustl.edu	37	chr1	19018262	19018262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtagggaaccggctggacGagggctcggatgtggagtcg	7	7	19	8	4	0	0	0	0	0	0	2	5	0	4	1	6	1	3	1	6	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:19018262G>A	ENST00000375375.3	+	5	1199	c.601G>A	c.(601-603)Gag>Aag	p.E201K	PAX7_ENST00000420770.2_Missense_Mutation_p.E201K|PAX7_ENST00000400661.3_Missense_Mutation_p.E199K	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	201	Sufficient to mediate interaction with PAXBP1. {ECO:0000250}.				anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CCGGCTGGACGAGGGCTCGGA	0.642			T	FOXO1A	alveolar rhabdomyosarcoma																																			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													22	17	19					1																	19018262		2192	4291	6483	SO:0001583	missense	0			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"Paired boxes", "Homeoboxes / PRD class"	8621	protein-coding gene	gene with protein product		167410	"paired box gene 7"			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.601G>A	1.37:g.19018262G>A	ENSP00000364524:p.Glu201Lys		E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom	p.E201K	ENST00000375375.3	37	c.601	CCDS186.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057558	0.76074	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95103	-3.61;-3.59;-3.61	4.98	4.98	0.66077	.	0.062950	0.64402	D	0.000006	D	0.93281	0.7859	M	0.77103	2.36	0.80722	D	1	B;P;P	0.52577	0.417;0.954;0.944	B;B;B	0.37267	0.054;0.245;0.222	D	0.94409	0.7630	10	0.66056	D	0.02	.	16.8192	0.85741	0.0:0.0:1.0:0.0	.	201;199;201	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	K	201;201;199	ENSP00000364524:E201K;ENSP00000403389:E201K;ENSP00000383502:E199K	ENSP00000364524:E201K	E	+	1	0	PAX7	18890849	1.000000	0.71417	0.991000	0.47740	0.772000	0.43724	9.823000	0.99369	2.313000	0.78055	0.655000	0.94253	GAG	PAX7	-	NULL	ENSG00000009709		0.642	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	-	0	17	0	G	NM_002584		19018262	1	tier1	-	no_errors	ENST00000375375	ensembl	human	known	74_37	missense	33.33	16	8	SNP	1.000	A	A	19018262	G	A	19018262	3	1	100	1	0	0	0	0	1	0	0	0	11523	1059	37	1	619	1	PAX7	1	19018262	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2746975	19018262	230232359	4	28312											
ECE1	1889	genome.wustl.edu	37	chr1	21582529	21582529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgttggccagtgccgtctCaaagtccaagatctgctgca	9	10	11	11	1	2	1	1	0	2	1	4	2	3	1	3	1	3	3	3	1	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:21582529C>G	ENST00000374893.6	-	8	1005	c.931G>C	c.(931-933)Gag>Cag	p.E311Q	ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000357071.4_Missense_Mutation_p.E299Q|ECE1_ENST00000415912.2_Missense_Mutation_p.E295Q|ECE1_ENST00000436918.2_Missense_Mutation_p.E311Q|ECE1_ENST00000264205.6_Missense_Mutation_p.E308Q	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	311					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGTGCCGTCTCAAAGTCCAAG	0.602																																																	0													137	110	119					1																	21582529		2203	4300	6503	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.931G>C	1.37:g.21582529C>G	ENSP00000364028:p.Glu311Gln		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.E311Q	ENST00000374893.6	37	c.931	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951593	0.92660	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.73	5.73	0.89815	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.93271	0.7856	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.995;0.999;0.999	D	0.93997	0.7272	10	0.87932	D	0	-44.4529	18.8402	0.92180	0.0:1.0:0.0:0.0	.	311;295;311;299;308	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	Q	295;299;311;311;308	ENSP00000405088:E295Q;ENSP00000349581:E299Q;ENSP00000364028:E311Q;ENSP00000388439:E311Q;ENSP00000264205:E308Q	ENSP00000264205:E308Q	E	-	1	0	ECE1	21455116	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.379000	0.79691	2.868000	0.98415	0.555000	0.69702	GAG	ECE1	-	pfam_Peptidase_M13_N	ENSG00000117298		0.602	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	-	0	33	0	C	NM_001397		21582529	-1	tier1	-	no_errors	ENST00000374893	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	G	G	21582529	C	G	21582529	3	3	100	1	0	0	0	0	1	0	0	0	4903	835	29	5	1429	5	ECE1	1	21582529	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2564267	21582529	227668092	5	28313											
C1orf201	90529	genome.wustl.edu	37	chr1	24710447	24710447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagacactgttggacaccGgtgactggtgaataacattg	12	10	12	7	1	0	3	0	3	0	1	0	5	0	4	1	3	1	1	1	3	2	3	rs138455088		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:24710447G>A	ENST00000374409.1	-	4	490	c.236C>T	c.(235-237)cCg>cTg	p.P79L	STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.P32L|STPG1_ENST00000440416.1_Missense_Mutation_p.P32L|STPG1_ENST00000337248.4_Missense_Mutation_p.P79L	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	79					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTTGGACACCGGTGACTGGTG	0.428													G|||	1	0.000199681	8e-04	0	5008	,	,		22707	0		0	False		,,,				2504	0																0								G	LEU/PRO,LEU/PRO,,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	195	181	186		236,236,,95	4.2	0.9	1	dbSNP_134	186	0,8600		0,0,4300	no	missense,missense,utr-5,missense	C1orf201	NM_001199012.1,NM_001199013.1,NM_001199014.1,NM_178122.4	98,98,,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,,benign	79/335,79/335,,32/288	24710447	1,13005	2203	4300	6503	SO:0001583	missense	0			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 2"	615826	"chromosome 1 open reading frame 201"	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.236C>T	1.37:g.24710447G>A	ENSP00000363530:p.Pro79Leu		Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	NULL	p.P79L	ENST00000374409.1	37	c.236	CCDS55581.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.49|15.49	2.848114|2.848114	0.51164|0.51164	2.27E-4|2.27E-4	0.0|0.0	ENSG00000001460|ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248;ENST00000437986|ENST00000435187	.|.	.|.	.|.	6.03|6.03	4.15|4.15	0.48705|0.48705	.|.	0.153066|.	0.44688|.	N|.	0.000433|.	T|T	0.58075|0.58075	0.2097|0.2097	L|L	0.50919|0.50919	1.6|1.6	0.47659|0.47659	D|D	0.999485|0.999485	B;B|.	0.33212|.	0.402;0.189|.	B;B|.	0.32342|.	0.144;0.046|.	T|T	0.53373|0.53373	-0.8448|-0.8448	9|5	0.02654|.	T|.	1|.	-6.3934|-6.3934	9.5785|9.5785	0.39472|0.39472	0.1623:0.0:0.8377:0.0|0.1623:0.0:0.8377:0.0	.|.	79;32|.	Q5TH74;Q5TH74-3|.	CA201_HUMAN;.|.	L|W	79;32;32;79;79|56	.|.	ENSP00000003583:P32L|.	P|R	-|-	2|1	0|2	C1orf201|C1orf201	24583034|24583034	0.992000|0.992000	0.36948|0.36948	0.859000|0.859000	0.33776|0.33776	0.952000|0.952000	0.60782|0.60782	1.862000|1.862000	0.39448|0.39448	0.867000|0.867000	0.35654|0.35654	0.655000|0.655000	0.94253|0.94253	CCG|CGG	STPG1	-	NULL	ENSG00000001460		0.428	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	-	0	51	0	G	NM_178122		24710447	-1	tier1	rs138455088	no_errors	ENST00000337248	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.931	A	A	24710447	G	A	24710447	3	1	100	1	0	0	0	0	1	0	0	0	2034	1116	39	1	792	1	C1orf201	1	24710447	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	3127918	24710447	224540174	6	28314											
ARID1A	8289	genome.wustl.edu	37	chr1	27087879	27087879	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctttgtctggagcaggcaaCcagatgccacctcggccacc	8	8	10	15	1	2	1	0	0	2	1	3	2	2	2	5	3	3	2	5	3	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:27087879C>T	ENST00000324856.7	+	6	2537	c.2166C>T	c.(2164-2166)aaC>aaT	p.N722N	ARID1A_ENST00000457599.2_Silent_p.N722N|ARID1A_ENST00000374152.2_Silent_p.N339N|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	722					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.N722fs*18(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGCAGGCAACCAGATGCCAC	0.502			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Deletion - Frameshift(1)	ovary(1)											78	73	75					1																	27087879		2203	4300	6503	SO:0001819	synonymous_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2166C>T	1.37:g.27087879C>T			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.N722	ENST00000324856.7	37	c.2166	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.502	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	-	0	32	0	C	NM_139135		27087879	1	tier1	-	no_errors	ENST00000324856	ensembl	human	known	74_37	silent	30.00	28	12	SNP	1.000	T	T	27087879	C	T	27087879	2	4	100	1	0	0	0	0	0	0	0	1	913	506	18	3		3	ARID1A	1	27087879	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2377432	27087879	222162742	7	28315											
GPN2	63906	genome.wustl.edu	37	chr1	27216261	27216261	+	IGR	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacctggcctgggcagtcGaagaggaagtagtggccgcg	8	6	16	11	3	0	1	0	0	0	1	2	3	1	2	4	4	0	2	4	4	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:27216261G>A	ENST00000361720.5	-	0	2123				GPN2_ENST00000374135.4_Silent_p.F109F|GPN2_ENST00000461282.1_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGCAGTCGAAGAGGAAGT	0.662																																																	0													60	62	61					1																	27216261		2203	4300	6503	SO:0001628	intergenic_variant	0			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"G patch domain containing"	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27216261G>A			Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase	p.F109	ENST00000361720.5	37	c.327	CCDS290.1	1																																																																																			GPN2	-	pfam_Uncharacterised_ATP-bd,superfamily_P-loop_NTPase	ENSG00000142751		0.662	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPN2	HGNC	protein_coding	OTTHUMT00000012181.1	-	0	107	0	G	NM_022078		27216261	-1	tier1	-	no_errors	ENST00000374135	ensembl	human	known	74_37	silent	36.30	86	49	SNP	1.000	A	A	27216261	G	A	27216261	1	1	100	0	1	0	0	0	0	0	0	0	6644	1049	37	1		1	GPN2	1	27216261	IGR	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	128382	27216261	222034360	8	28316											
FAM46B	115572	genome.wustl.edu	37	chr1	27333125	27333125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagctccacgttcttgccGctcttgttggacagtgagat	6	14	11	10	2	2	2	0	2	2	1	3	4	3	3	2	1	2	4	2	1	0	5	rs143879440		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:27333125G>A	ENST00000289166.5	-	2	753	c.588C>T	c.(586-588)agC>agT	p.S196S		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	196										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CGTTCTTGCCGCTCTTGTTGG	0.532																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	136	130	132		588	-2.5	0.9	1	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous	FAM46B	NM_052943.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		196/426	27333125	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.588C>T	1.37:g.27333125G>A				Silent	SNP	pfam_DUF1693	p.S196	ENST00000289166.5	37	c.588	CCDS294.2	1																																																																																			FAM46B	-	pfam_DUF1693	ENSG00000158246		0.532	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2		0	22	0	G	NM_052943		27333125	-1			no_errors	ENST00000289166	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.741	A	A	27333125	G	A	27333125	2	1	100	1	0	0	0	0	0	0	0	1	5588	1078	38	1		1	FAM46B	1	27333125	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	116864	27333125	221917496	9	28317											
PTPRU	10076	genome.wustl.edu	37	chr1	29631863	29631863	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacctgctctgtgtttacaGatgatcggcaccgagtgaaa	10	10	10	11	2	1	3	0	2	1	1	2	4	1	3	3	1	2	3	3	1	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:29631863G>A	ENST00000345512.3	+	19	2902		c.e19-1		PTPRU_ENST00000428026.2_Splice_Site|PTPRU_ENST00000460170.2_Splice_Site|PTPRU_ENST00000356870.3_Splice_Site|PTPRU_ENST00000415600.2_Splice_Site|PTPRU_ENST00000373779.3_Splice_Site|PTPRU_ENST00000323874.8_Splice_Site	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U						canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGTGTTTACAGATGATCGGCA	0.572																																																	0													107	95	99					1																	29631863		2203	4300	6503	SO:0001630	splice_region_variant	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9683	protein-coding gene	gene with protein product	"pi R-PTP-Psi"	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2774-1G>A	1.37:g.29631863G>A			A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Splice_Site	SNP	-	e19-1	ENST00000345512.3	37	c.2774-1	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446400	0.84101	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	.	.	.	4.06	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4948	0.84237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRU	29504450	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.504000	0.97986	2.556000	0.86216	0.563000	0.77884	.	PTPRU	-	-	ENSG00000060656		0.572	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0	25	0	G		Intron	29631863	1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	splice_site	44.44	15	12	SNP	1.000	A	A	29631863	G	A	29631863	5	1	100	1	0	0	0	0	0	0	1	0	12858	956	33	3	2847	3	PTPRU	1	29631863	Splice_Site	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2298738	29631863	219618758	10	28318											
DLGAP3	58512	genome.wustl.edu	37	chr1	35370161	35370161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggggcctcccacccGccaggaagccgctatcactg	7	4	11	19	2	1	0	1	0	0	0	2	1	2	1	7	3	1	1	7	3	2	1	rs146229611		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:35370161G>A	ENST00000373347.1	-	3	1092	c.824C>T	c.(823-825)gCg>gTg	p.A275V	DLGAP3_ENST00000235180.4_Missense_Mutation_p.A275V|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	275					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CCTCCCACCCGCCAGGAAGCC	0.662																																																	0													75	77	76					1																	35370161		2203	4300	6503	SO:0001583	missense	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.824C>T	1.37:g.35370161G>A	ENSP00000362444:p.Ala275Val		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.A275V	ENST00000373347.1	37	c.824	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863091	0.32884	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.24723	1.84;1.84	4.65	2.69	0.31865	.	0.443790	0.24502	N	0.037973	T	0.08537	0.0212	N	0.01505	-0.83	0.24826	N	0.992554	B	0.16802	0.019	B	0.10450	0.005	T	0.24119	-1.0169	10	0.39692	T	0.17	-1.5444	6.6443	0.22927	0.4624:0.0:0.5376:0.0	.	275	O95886	DLGP3_HUMAN	V	275	ENSP00000362444:A275V;ENSP00000235180:A275V	ENSP00000235180:A275V	A	-	2	0	DLGAP3	35142748	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	2.544000	0.45761	0.451000	0.26802	0.655000	0.94253	GCG	DLGAP3	-	NULL	ENSG00000116544		0.662	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	-	0	35	0	G	NM_021234		35370161	-1	tier1	-	no_errors	ENST00000235180	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A	A	35370161	G	A	35370161	3	1	100	1	0	0	0	0	1	0	0	0	4575	1087	38	1	2155	1	DLGAP3	1	35370161	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	5738298	35370161	213880460	11	28319											
LSM10	84967	genome.wustl.edu	37	chr1	36859680	36859680	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccctgcagtaggatgatCaggctgttctcagagatggt	9	10	14	8	0	2	2	2	1	1	1	3	4	2	3	1	4	1	4	1	4	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:36859680C>G	ENST00000315732.2	-	2	200	c.51G>C	c.(49-51)ctG>ctC	p.L17L	LSM10_ENST00000476041.1_5'UTR	NM_032881.1	NP_116270.1	Q969L4	LSM10_HUMAN	LSM10, U7 small nuclear RNA associated	17					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)			upper_aerodigestive_tract(1)|urinary_tract(1)	2		Myeloproliferative disorder(586;0.0393)				GTAGGATGATCAGGCTGTTCT	0.582																																																	0													71	65	67					1																	36859680		2203	4300	6503	SO:0001819	synonymous_variant	0			AF394685	CCDS408.1	1p34.3	2008-02-05			ENSG00000181817	ENSG00000181817			17562	protein-coding gene	gene with protein product						11574479	Standard	NM_032881		Approved	MGC15749	uc001cao.1	Q969L4	OTTHUMG00000008140	ENST00000315732.2:c.51G>C	1.37:g.36859680C>G				Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.L17	ENST00000315732.2	37	c.51	CCDS408.1	1																																																																																			LSM10	-	superfamily_LSM_dom	ENSG00000181817		0.582	LSM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSM10	HGNC	protein_coding	OTTHUMT00000022294.1	-	0	60	0	C	NM_032881		36859680	-1	tier1	-	no_errors	ENST00000315732	ensembl	human	known	74_37	silent	27.27	40	15	SNP	1.000	G	G	36859680	C	G	36859680	2	3	100	1	0	0	0	0	0	0	0	1	9086	813	29	5		5	LSM10	1	36859680	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1489519	36859680	212390941	12	28320											
EPHA10	284656	genome.wustl.edu	37	chr1	38201051	38201051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccctgcggatctcatcctCctcccagggcgctgaaagta	7	9	10	15	2	1	1	1	1	1	0	6	2	5	2	4	2	1	2	4	2	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:38201051C>T	ENST00000373048.4	-	6	1368	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	Y_RNA_ENST00000363551.1_RNA|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.E457K|EPHA10_ENST00000330210.7_5'UTR|EPHA10_ENST00000540011.1_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	457	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCATCCTCCTCCCAGGGC	0.672																																																	0													22	23	23					1																	38201051		1968	4165	6133	SO:0001583	missense	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1369G>A	1.37:g.38201051C>T	ENSP00000362139:p.Glu457Lys		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.E457K	ENST00000373048.4	37	c.1369	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538283	0.85917	.	.	ENSG00000183317	ENST00000427468;ENST00000373048	T;T	0.53423	0.62;0.62	4.14	4.14	0.48551	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35739	N	0.003015	T	0.38026	0.1025	L	0.36672	1.1	0.80722	D	1	B	0.22003	0.063	B	0.18871	0.023	T	0.37798	-0.9690	10	0.87932	D	0	.	12.0986	0.53769	0.0:1.0:0.0:0.0	.	457	Q5JZY3	EPHAA_HUMAN	K	457	ENSP00000397746:E457K;ENSP00000362139:E457K	ENSP00000362139:E457K	E	-	1	0	EPHA10	37973638	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	2.421000	0.44688	2.324000	0.78689	0.561000	0.74099	GAG	EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000183317		0.672	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0	42	0	C	NM_173641		38201051	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	missense	32.61	31	15	SNP	1.000	T	T	38201051	C	T	38201051	3	4	100	1	0	0	0	0	1	0	0	0	5182	864	30	3	1705	3	EPHA10	1	38201051	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1341371	38201051	211049570	13	28321											
PABPC4	8761	genome.wustl.edu	37	chr1	40034566	40034567	+	Frame_Shift_Del	DEL	AT	AT	-																															cttttgtgcacggcctacaaAtatgattttaccacttattt																										TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:40034566_40034567delAT	ENST00000372857.3	-	6	1575_1576	c.783_784delAT	c.(781-786)atatttfs	p.F262fs	SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000529216.1_5'UTR|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Frame_Shift_Del_p.F262fs|PABPC4_ENST00000372858.3_Frame_Shift_Del_p.F262fs|PABPC4_ENST00000372856.3_Frame_Shift_Del_p.F262fs	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	262	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCTACAAATATGATTTTAC	0.381																																																	0																																										SO:0001589	frameshift_variant	0			U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"RNA binding motif (RRM) containing"	8557	protein-coding gene	gene with protein product		603407	"poly(A)-binding protein, cytoplasmic 4 (inducible form)"			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.783_784delAT	1.37:g.40034568_40034569delAT	ENSP00000361948:p.Phe262fs		B1ANQ8|Q4VC03|Q6P0N3	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.F262fs	ENST00000372857.3	37	c.784_783	CCDS438.1	1																																																																																			PABPC4	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000090621		0.381	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	HGNC	protein_coding	OTTHUMT00000025220.1		0	42	0	AT	NM_001135653		40034567	-1	tier1		no_errors	ENST00000372858	ensembl	human	known	74_37	frame_shift_del	31.82	30	14	DEL	1.000:0.999	-	-	40034567	AT	-	40034566	7	5	100	1	0	1	0	1	0	0	0	0	11405	101	4	0	1238	0	PABPC4	1	40034566	Frame_Shift_Del	DEL	AT	TCGA-LN-A49M-01A-21D-A27G-09	1833515	40034566	209216055	14	28322											
NFYC	4802	genome.wustl.edu	37	chr1	41218824	41218824	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcttctttgttacagaGaaatgatatcgccatggcaa	11	12	8	10	2	2	2	0	1	2	1	3	3	2	2	2	1	1	3	2	1	4	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:41218824G>T	ENST00000308733.5	+	4	299	c.293G>T	c.(292-294)aGa>aTa	p.R98I	NFYC_ENST00000372654.1_Splice_Site_p.R98I|NFYC_ENST00000372651.1_Splice_Site_p.R98I|NFYC_ENST00000447388.3_Splice_Site_p.R98I|NFYC_ENST00000427410.2_Splice_Site_p.R60I|NFYC_ENST00000372653.1_Splice_Site_p.R98I|NFYC_ENST00000372652.1_Splice_Site_p.R98I|NFYC_ENST00000425457.2_Splice_Site_p.R98I|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000456393.2_Splice_Site_p.R98I|NFYC_ENST00000440226.3_Splice_Site_p.R98I			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	98					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R98I(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			TTGTTACAGAGAAATGATATC	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											97	89	92					1																	41218824		2203	4300	6503	SO:0001630	splice_region_variant	0			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.292-1G>T	1.37:g.41218824G>T			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.R98I	ENST00000308733.5	37	c.293		1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606724	0.87157	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43688	1.51;1.51;1.51;0.94;1.51;1.51;1.51;1.51;0.94;1.51;1.51;0.94;0.94;0.94	5.4	5.4	0.78164	Histone-fold (2);Transcription factor CBF/NF-Y/archaeal histone (1);	0.000000	0.85682	D	0.000000	T	0.75228	0.3821	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.994;0.999;0.996;0.997;0.994;0.994;0.999	D;D;D;D;D;D;D	0.87578	0.975;0.998;0.985;0.994;0.975;0.975;0.987	T	0.82494	-0.0429	10	0.87932	D	0	.	16.7079	0.85377	0.0:0.0:1.0:0.0	.	60;98;98;98;98;98;98	B4DW63;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;NFYC_HUMAN;.;.;.;.;.	I	60;98;98;98;98;98;98;98;98;98;98;98;74;98	ENSP00000408315:R60I;ENSP00000404427:R98I;ENSP00000396620:R98I;ENSP00000397647:R98I;ENSP00000408867:R98I;ENSP00000361738:R98I;ENSP00000361737:R98I;ENSP00000361754:R98I;ENSP00000361736:R98I;ENSP00000361734:R98I;ENSP00000414299:R98I;ENSP00000436710:R98I;ENSP00000433413:R74I;ENSP00000312617:R98I	ENSP00000312617:R98I	R	+	2	0	NFYC	40991411	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.170000	0.94795	2.818000	0.97014	0.655000	0.94253	AGA	NFYC	-	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	ENSG00000066136		0.398	NFYC-007	KNOWN	basic	protein_coding	NFYC	HGNC	protein_coding	OTTHUMT00000020802.1		0	35	0	G	NM_014223	Missense_Mutation	41218824	1			no_errors	ENST00000308733	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	41218824	G	T	41218824	5	4	100	1	0	0	0	0	0	0	1	0	10430	956	33	3	307	3	NFYC	1	41218824	Splice_Site	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1184258	41218824	208031797	15	28323											
YBX1	4904	genome.wustl.edu	37	chr1	43162401	43162401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtaaccattatagacgctAtccacgtcgtaggggtcctc	9	10	9	13	4	0	1	0	0	0	1	4	1	2	1	4	2	1	3	4	2	5	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:43162401A>G	ENST00000321358.7	+	5	582	c.443A>G	c.(442-444)tAt>tGt	p.Y148C	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	148					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TATAGACGCTATCCACGTCGT	0.512																																																	0													76	78	77					1																	43162401		2203	4300	6503	SO:0001583	missense	0			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"nuclease sensitive element binding protein 1"	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.443A>G	1.37:g.43162401A>G	ENSP00000361626:p.Tyr148Cys		P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.Y148C	ENST00000321358.7	37	c.443	CCDS470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.52|17.52	3.410592|3.410592	0.62399|0.62399	.|.	.|.	ENSG00000065978|ENSG00000065978	ENST00000436427|ENST00000321358;ENST00000332220;ENST00000318612	.|T;T	.|0.37584	.|1.25;1.19	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.228496	.|0.47093	.|N	.|0.000256	T|T	0.49932|0.49932	0.1586|0.1586	M|M	0.73217|0.73217	2.22|2.22	0.53688|0.53688	D|D	0.999979|0.999979	.|D	.|0.69078	.|0.997	.|P	.|0.53912	.|0.737	T|T	0.50972|0.50972	-0.8764|-0.8764	5|10	.|0.41790	.|T	.|0.15	-0.5043|-0.5043	13.372|13.372	0.60719|0.60719	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|148	.|P67809	.|YBOX1_HUMAN	V|C	198|148;118;144	.|ENSP00000361626:Y148C;ENSP00000405937:Y118C	.|ENSP00000361621:Y144C	I|Y	+|+	1|2	0|0	YBX1|YBX1	42934988|42934988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.781000|6.781000	0.75068|0.75068	2.101000|2.101000	0.63845|0.63845	0.460000|0.460000	0.39030|0.39030	ATC|TAT	YBX1	-	NULL	ENSG00000065978		0.512	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX1	HGNC	protein_coding	OTTHUMT00000019786.2	-	0	65	0	A	NM_004559		43162401	1	tier1	-	no_errors	ENST00000321358	ensembl	human	known	74_37	missense	37.04	51	30	SNP	1.000	G	G	43162401	A	G	43162401	3	3	100	1	0	0	0	0	1	0	0	0	17518	449	16	4	461	4	YBX1	1	43162401	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	1943577	43162401	206088220	16	28324											
TIE1	7075	genome.wustl.edu	37	chr1	43783285	43783285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcgggagaactggaagttCtgtgcaaattggggcatcac	10	10	14	7	1	2	1	1	0	1	1	2	3	2	2	0	4	3	3	0	4	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:43783285C>T	ENST00000372476.3	+	16	2750	c.2671C>T	c.(2671-2673)Ctg>Ttg	p.L891L	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.L536L	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTGGAAGTTCTGTGCAAATT	0.488																																																	0													154	169	164					1																	43783285		2203	4300	6503	SO:0001819	synonymous_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11809	protein-coding gene	gene with protein product		600222	"tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2671C>T	1.37:g.43783285C>T			B5A949|B5A950	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L891	ENST00000372476.3	37	c.2671	CCDS482.1	1																																																																																			TIE1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000066056		0.488	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1		0	22	0	C	NM_005424		43783285	1			no_errors	ENST00000372476	ensembl	human	known	74_37	silent	9.68	28	3	SNP	1.000	T	T	43783285	C	T	43783285	2	4	100	1	0	0	0	0	0	0	0	1	15940	912	32	3		3	TIE1	1	43783285	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	620884	43783285	205467336	17	28325											
PLK3	1263	genome.wustl.edu	37	chr1	45269890	45269890	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcagccctttgtgctctGagaaattgtatagccttcat	9	14	9	9	0	3	1	2	1	1	1	3	3	3	1	2	0	3	2	2	0	3	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:45269890G>C	ENST00000372201.4	+	11	1553	c.1314G>C	c.(1312-1314)ctG>ctC	p.L438L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	438					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TTTGTGCTCTGAGAAATTGTA	0.547																																																	0													140	130	133					1																	45269890		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"cytokine-inducible kinase", "polo-like kinase 3 (Drosophila)"	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1314G>C	1.37:g.45269890G>C			Q15767|Q5JR99|Q96CV1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom	p.L438	ENST00000372201.4	37	c.1314	CCDS515.1	1																																																																																			PLK3	-	NULL	ENSG00000173846		0.547	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	-	0	29	0	G	NM_004073		45269890	1	tier1	-	no_errors	ENST00000372201	ensembl	human	known	74_37	silent	31.43	24	11	SNP	0.988	C	C	45269890	G	C	45269890	2	2	100	1	0	0	0	0	0	0	0	1	12136	1277	45	5		5	PLK3	1	45269890	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1486605	45269890	203980731	18	28326											
GLIS1	148979	genome.wustl.edu	37	chr1	53980335	53980335	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccatgggcagaggggacaGatggtggtgggaactggtgg	9	6	21	5	0	0	2	0	0	0	2	0	4	0	4	1	8	2	1	1	8	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:53980335G>C	ENST00000312233.2	-	7	1887	c.1321C>G	c.(1321-1323)Ctg>Gtg	p.L441V		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGAGGGGACAGATGGTGGTGG	0.667																																																	0													99	101	100					1																	53980335		2203	4300	6503	SO:0001583	missense	0			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"Zinc fingers, C2H2-type"	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1321C>G	1.37:g.53980335G>C	ENSP00000309653:p.Leu441Val			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L441V	ENST00000312233.2	37	c.1321	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342905	0.41498	.	.	ENSG00000174332	ENST00000312233	T	0.12039	2.72	4.97	4.03	0.46877	.	0.170789	0.28161	N	0.016376	T	0.12178	0.0296	L	0.32530	0.975	0.29966	N	0.81893	D	0.57257	0.979	P	0.46718	0.525	T	0.05225	-1.0898	10	0.30854	T	0.27	.	7.9569	0.30049	0.0841:0.0:0.7543:0.1616	.	441	Q8NBF1	GLIS1_HUMAN	V	441	ENSP00000309653:L441V	ENSP00000309653:L441V	L	-	1	2	GLIS1	53752923	1.000000	0.71417	0.992000	0.48379	0.921000	0.55340	3.161000	0.50747	1.367000	0.46095	0.563000	0.77884	CTG	GLIS1	-	NULL	ENSG00000174332		0.667	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	-	0	51	0	G	NM_147193		53980335	-1	tier1	-	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	29.63	38	16	SNP	0.994	C	C	53980335	G	C	53980335	3	2	100	1	0	0	0	0	1	0	0	0	6471	933	33	5	557	5	GLIS1	1	53980335	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	8710445	53980335	195270286	19	28327											
USP24	23358	genome.wustl.edu	37	chr1	55557762	55557762	+	Frame_Shift_Del	DEL	T	T	-																															tagcaagctgtaagctcaccTttgccatgcaaggataatat																										TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:55557762delT	ENST00000294383.6	-	54	6487	c.6488delA	c.(6487-6489)aagfs	p.K2163fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.K2003fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2163					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAAGCTCACCTTTGCCATGCA	0.333																																																	0													98	93	94					1																	55557762		1840	4084	5924	SO:0001589	frameshift_variant	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6488delA	1.37:g.55557762delT	ENSP00000294383:p.Lys2163fs		Q6ZSY2|Q8N2Y4|Q9NXD1	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.K2003fs	ENST00000294383.6	37	c.6008	CCDS44154.2	1																																																																																			USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.333	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2		0	51	0	T			55557762	-1	tier1		no_errors	ENST00000407756	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-	-	55557762	T	-	55557762	7	5	100	1	0	1	0	1	0	0	0	0	17104	1609	56	0	1434	0	USP24	1	55557762	Frame_Shift_Del	DEL	T	TCGA-LN-A49M-01A-21D-A27G-09	1577427	55557762	193692859	20	28328											
TTLL7	79739	genome.wustl.edu	37	chr1	84335655	84335655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttctgtttcacagatggCcatatctggatgtaaacaaa	12	12	7	10	0	3	1	1	0	2	1	3	2	3	2	2	2	1	2	2	2	4	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:84335655C>T	ENST00000260505.8	-	21	3031	c.2654G>A	c.(2653-2655)gGc>gAc	p.G885D	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	885					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCACAGATGGCCATATCTGGA	0.403																																																	0													153	133	140					1																	84335655		2203	4300	6503	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"Tubulin tyrosine ligase-like family"	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.2654G>A	1.37:g.84335655C>T	ENSP00000260505:p.Gly885Asp		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.G885D	ENST00000260505.8	37	c.2654	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408689	0.42715	.	.	ENSG00000137941	ENST00000260505	T	0.03772	3.81	5.88	2.79	0.32731	.	0.751851	0.12671	N	0.448790	T	0.01730	0.0055	L	0.40543	1.245	0.30260	N	0.793279	B	0.18741	0.03	B	0.18561	0.022	T	0.39502	-0.9611	10	0.59425	D	0.04	.	7.9194	0.29837	0.0:0.6533:0.1296:0.2172	.	885	Q6ZT98	TTLL7_HUMAN	D	885	ENSP00000260505:G885D	ENSP00000260505:G885D	G	-	2	0	TTLL7	84108243	0.999000	0.42202	1.000000	0.80357	0.963000	0.63663	0.520000	0.22878	0.828000	0.34709	0.655000	0.94253	GGC	TTLL7	-	NULL	ENSG00000137941		0.403	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	-	0	46	0	C	NM_024686		84335655	-1	tier1	-	no_errors	ENST00000260505	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.999	T	T	84335655	C	T	84335655	3	4	100	1	0	0	0	0	1	0	0	0	16781	739	26	3	13	3	TTLL7	1	84335655	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	28777893	84335655	164914966	21	28329											
RPF1	80135	genome.wustl.edu	37	chr1	84961569	84961569	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattatttttctagagaaGaggcaaggaccccacagaac	14	10	8	9	0	2	3	1	0	1	3	2	5	2	4	2	2	1	1	2	2	5	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:84961569G>C	ENST00000370654.5	+	7	719	c.704G>C	c.(703-705)aGa>aCa	p.R235T	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	235	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTCTAGAGAAGAGGCAAGGAC	0.348																																																	0													57	56	57					1																	84961569		2203	4300	6503	SO:0001583	missense	0			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"RNA processing factor 1", "ribosome production factor 1"		"brix domain containing 5"	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.704G>C	1.37:g.84961569G>C	ENSP00000359688:p.Arg235Thr		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	p.R235T	ENST00000370654.5	37	c.704	CCDS695.1	1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344305	0.41498	.	.	ENSG00000117133	ENST00000370654	T	0.21932	1.98	5.72	4.71	0.59529	Brix domain (3);Anticodon-binding (1);	0.146535	0.64402	D	0.000015	T	0.05090	0.0136	L	0.35593	1.075	0.44660	D	0.997644	B	0.16603	0.018	B	0.19666	0.026	T	0.33189	-0.9878	10	0.13853	T	0.58	-19.821	3.7314	0.08495	0.3328:0.0:0.6672:0.0	.	235	Q9H9Y2	RPF1_HUMAN	T	235	ENSP00000359688:R235T	ENSP00000359688:R235T	R	+	2	0	RPF1	84734157	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.395000	0.52558	2.717000	0.92951	0.655000	0.94253	AGA	RPF1	-	pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix	ENSG00000117133		0.348	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPF1	HGNC	protein_coding	OTTHUMT00000027238.1	-	0	19	0	G	NM_025065		84961569	1	tier1	-	no_errors	ENST00000370654	ensembl	human	known	74_37	missense	28.00	18	7	SNP	1.000	C	C	84961569	G	C	84961569	3	2	100	1	0	0	0	0	1	0	0	0	13591	942	33	5	730	5	RPF1	1	84961569	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	625914	84961569	164289052	22	28330											
DPYD	1806	genome.wustl.edu	37	chr1	97771847	97771847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagatgttccgcaccagctCtggatcctgttcaaataggt	9	11	10	11	1	2	1	1	0	1	1	4	2	4	2	3	2	1	5	3	2	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:97771847C>T	ENST00000370192.3	-	17	2165	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	689					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CGCACCAGCTCTGGATCCTGT	0.438																																																	0													115	117	116					1																	97771847		2203	4300	6503	SO:0001583	missense	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2065G>A	1.37:g.97771847C>T	ENSP00000359211:p.Glu689Lys		A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.E689K	ENST00000370192.3	37	c.2065	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064334	0.55432	.	.	ENSG00000188641	ENST00000370192	D	0.85702	-2.02	5.9	5.9	0.94986	Aldolase-type TIM barrel (1);	0.335623	0.32372	N	0.006188	T	0.74816	0.3766	L	0.41632	1.29	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	T	0.67956	-0.5536	10	0.30854	T	0.27	-22.1022	20.2704	0.98474	0.0:1.0:0.0:0.0	.	689	Q12882	DPYD_HUMAN	K	689	ENSP00000359211:E689K	ENSP00000359211:E689K	E	-	1	0	DPYD	97544435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.458000	0.80787	2.793000	0.96121	0.591000	0.81541	GAG	DPYD	-	pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH	ENSG00000188641		0.438	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	-	0	17	0	C	NM_000110		97771847	-1	tier1	-	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	T	T	97771847	C	T	97771847	3	4	100	1	0	0	0	0	1	0	0	0	4759	922	32	3	1040	3	DPYD	1	97771847	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	12810278	97771847	151478774	23	28331											
LYSMD1	388695	genome.wustl.edu	37	chr1	151134280	151134280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatctgtgaatcaagcttCttaaggaaatcagaggcaga	14	10	10	7	0	4	4	2	2	2	2	4	5	4	5	0	2	1	2	0	2	4	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:151134280C>T	ENST00000368908.5	-	2	1137	c.477G>A	c.(475-477)aaG>aaA	p.K159K	LYSMD1_ENST00000440902.2_Silent_p.K111K	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	159										endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATCAAGCTTCTTAAGGAAAT	0.512																																																	0													153	153	153					1																	151134280		2203	4300	6503	SO:0001819	synonymous_variant	0			BX647911	CCDS986.1, CCDS44218.1	1q21.2	2008-02-05			ENSG00000163155	ENSG00000163155			32070	protein-coding gene	gene with protein product						12477932	Standard	NM_212551		Approved	SB145, MGC35223, RP11-68I18.5	uc001ewy.3	Q96S90	OTTHUMG00000012260	ENST00000368908.5:c.477G>A	1.37:g.151134280C>T			B4DQA1|Q69YX9	Silent	SNP	pfam_LysM_dom,smart_LysM_dom	p.K159	ENST00000368908.5	37	c.477	CCDS986.1	1																																																																																			LYSMD1	-	NULL	ENSG00000163155		0.512	LYSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD1	HGNC	protein_coding	OTTHUMT00000034070.3	-	0	83	0	C	NM_212551		151134280	-1	tier1	-	no_errors	ENST00000368908	ensembl	human	known	74_37	silent	39.00	60	39	SNP	1.000	T	T	151134280	C	T	151134280	2	4	100	1	0	0	0	0	0	0	0	1	9160	912	32	3		3	LYSMD1	1	151134280	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	53362433	151134280	98116341	24	28332											
RFX5	5993	genome.wustl.edu	37	chr1	151314765	151314765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggtgcagtgtctacctctCcctttgccaaaggaaaagcc	9	10	10	12	0	2	0	0	0	2	0	3	1	2	1	4	2	4	1	4	2	4	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:151314765C>T	ENST00000290524.4	-	11	1926	c.1748G>A	c.(1747-1749)gGa>gAa	p.G583E	RFX5_ENST00000452513.2_Missense_Mutation_p.G543E|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000368870.2_Missense_Mutation_p.G583E|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452671.2_Missense_Mutation_p.G583E	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	583					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTCTACCTCTCCCTTTGCCAA	0.463																																																	0													138	127	131					1																	151314765		2203	4300	6503	SO:0001583	missense	0				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1748G>A	1.37:g.151314765C>T	ENSP00000290524:p.Gly583Glu		B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.G583E	ENST00000290524.4	37	c.1748	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	C	1.665	-0.510466	0.04231	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.37	0.0108	0.14084	.	0.714139	0.14029	N	0.346292	T	0.03871	0.0109	N	0.05510	-0.035	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.42699	-0.9436	10	0.26408	T	0.33	-2.598	4.8746	0.13650	0.0:0.4959:0.147:0.3571	.	543;583	B7Z848;P48382	.;RFX5_HUMAN	E	583;583;583;543;583	ENSP00000290524:G583E;ENSP00000357864:G583E;ENSP00000389130:G583E;ENSP00000398388:G543E;ENSP00000376502:G583E	ENSP00000290524:G583E	G	-	2	0	RFX5	149581389	0.001000	0.12720	0.447000	0.26932	0.485000	0.33311	-0.359000	0.07632	0.086000	0.17137	-0.218000	0.12543	GGA	RFX5	-	NULL	ENSG00000143390		0.463	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	-	0	22	0	C	NM_000449		151314765	-1	tier1	-	no_errors	ENST00000290524	ensembl	human	known	74_37	missense	37.93	18	11	SNP	0.013	T	T	151314765	C	T	151314765	3	4	100	1	0	0	0	0	1	0	0	0	13311	855	30	3	106	3	RFX5	1	151314765	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	180485	151314765	97935856	25	28333											
TPM3	7170	genome.wustl.edu	37	chr1	154155547	154155547	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatctgcctgctgctgcaGaacctggatcttgcgcttca	7	12	9	13	1	4	1	2	0	2	1	4	2	4	2	2	1	6	4	2	1	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:154155547G>A	ENST00000368530.2	-	3	436				TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000341372.3_Silent_p.L17L|TPM3_ENST00000323144.7_Silent_p.L17L|TPM3_ENST00000368531.2_Silent_p.L17L|TPM3_ENST00000368533.3_Silent_p.L17L|TPM3_ENST00000330188.9_Silent_p.L17L|TPM3_ENST00000328159.4_Silent_p.L17L|TPM3_ENST00000341485.5_Silent_p.L17L	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGCTGCTGCAGAACCTGGATC	0.647			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"																																			Dom	yes		1	1q22-q23	7170	tropomyosin 3		"E, L"	0													62	60	61					1																	154155547		2203	4296	6499	SO:0001627	intron_variant	0			BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"Tropomyosins"	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.244-6823C>T	1.37:g.154155547G>A			D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	pfam_Tropomyosin,superfamily_HR1_rho-bd,prints_Tropomyosin	p.L17	ENST00000368530.2	37	c.49	CCDS41403.1	1																																																																																			TPM3	-	pfam_Tropomyosin	ENSG00000143549		0.647	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM3	HGNC	protein_coding	OTTHUMT00000087271.2	-	0	35	0	G	NM_152263		154155547	-1	tier1	-	no_errors	ENST00000330188	ensembl	human	known	74_37	silent	32.69	35	17	SNP	1.000	A	A	154155547	G	A	154155547	1	1	100	0	1	0	0	0	0	0	0	0	16455	933	33	3		3	TPM3	1	154155547	Intron	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2840782	154155547	95095074	26	28334											
LRRN2	10446	genome.wustl.edu	37	chr1	204587876	204587876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaaacagtggtccgtcatCtcccggaagggcacctcacg	9	6	12	14	3	3	0	2	0	1	0	5	1	4	1	3	4	1	2	3	4	2	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:204587876C>G	ENST00000367175.1	-	1	3457	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	LRRN2_ENST00000367177.3_Missense_Mutation_p.E415D|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.E415D|RP11-430C7.4_ENST00000453895.1_RNA			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	415	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GGTCCGTCATCTCCCGGAAGG	0.667																																																	0													38	38	38					1																	204587876		2203	4300	6503	SO:0001583	missense	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1245G>C	1.37:g.204587876C>G	ENSP00000356143:p.Glu415Asp		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E415D	ENST00000367175.1	37	c.1245	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	C	9.674	1.147392	0.21288	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.60424	0.19;0.19;0.19	5.56	4.59	0.56863	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.43747	D	0.000540	T	0.33411	0.0862	N	0.12961	0.28	0.45930	D	0.998765	B	0.28584	0.216	B	0.25506	0.061	T	0.17410	-1.0370	10	0.07990	T	0.79	.	10.0018	0.41933	0.0:0.783:0.1408:0.0762	.	415	O75325	LRRN2_HUMAN	D	415	ENSP00000356144:E415D;ENSP00000356145:E415D;ENSP00000356143:E415D	ENSP00000356143:E415D	E	-	3	2	LRRN2	202854499	0.996000	0.38824	1.000000	0.80357	0.992000	0.81027	0.443000	0.21644	2.620000	0.88729	0.460000	0.39030	GAG	LRRN2	-	smart_Cys-rich_flank_reg_C	ENSG00000170382		0.667	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	-	0	33	0	C	NM_006338		204587876	-1	tier1	-	no_errors	ENST00000367175	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	G	G	204587876	C	G	204587876	3	3	100	1	0	0	0	0	1	0	0	0	9070	912	32	5	900	5	LRRN2	1	204587876	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	50432329	204587876	44662745	27	28335											
INTS7	25896	genome.wustl.edu	37	chr1	212125924	212125924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttgccatataagaaacaGgggtatatttccgattgagt	13	12	9	7	1	0	2	0	1	0	1	1	3	1	2	2	2	2	1	2	2	5	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:212125924G>A	ENST00000366994.3	-	17	2407	c.2303C>T	c.(2302-2304)cCt>cTt	p.P768L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.P768L|INTS7_ENST00000366993.3_Intron|INTS7_ENST00000440600.2_Missense_Mutation_p.P719L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	768					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATAAGAAACAGGGGTATATTT	0.363																																																	0													127	123	125					1																	212125924		2203	4300	6503	SO:0001583	missense	0			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"chromosome 1 open reading frame 73"	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.2303C>T	1.37:g.212125924G>A	ENSP00000355961:p.Pro768Leu		B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P719L	ENST00000366994.3	37	c.2156	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372764	0.82573	.	.	ENSG00000143493	ENST00000366994;ENST00000366992;ENST00000440600	T;T;T	0.56275	0.84;0.47;0.84	5.58	5.58	0.84498	.	0.094375	0.85682	D	0.000000	T	0.68742	0.3034	L	0.48362	1.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.68930	-0.5279	10	0.59425	D	0.04	-33.4925	19.582	0.95471	0.0:0.0:1.0:0.0	.	719;768;768	B4DLZ6;Q9NVH2-3;Q9NVH2	.;.;INT7_HUMAN	L	768;768;719	ENSP00000355961:P768L;ENSP00000355959:P768L;ENSP00000388908:P719L	ENSP00000355959:P768L	P	-	2	0	INTS7	210192547	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	9.040000	0.93783	2.638000	0.89438	0.557000	0.71058	CCT	INTS7	-	NULL	ENSG00000143493		0.363	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	-	0	45	0	G	NM_015434		212125924	-1	tier1	-	no_errors	ENST00000440600	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	A	A	212125924	G	A	212125924	3	1	100	1	0	0	0	0	1	0	0	0	7810	1000	35	3	601	3	INTS7	1	212125924	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	7538048	212125924	37124697	28	28336											
MARK1	4139	genome.wustl.edu	37	chr1	220791681	220791681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttctccttgatggtgatatGaatattaaaattgctgactt	11	17	7	6	0	1	4	0	4	1	0	2	4	1	4	1	1	1	1	1	1	5	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:220791681G>A	ENST00000366917.4	+	8	848	c.582G>A	c.(580-582)atG>atA	p.M194I	MARK1_ENST00000366918.4_Missense_Mutation_p.M172I|MARK1_ENST00000402574.1_Missense_Mutation_p.M59I					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATGGTGATATGAATATTAAAA	0.328																																																	0													42	47	45					1																	220791681		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.582G>A	1.37:g.220791681G>A	ENSP00000355884:p.Met194Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.M194I	ENST00000366917.4	37	c.582	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889733	0.91889	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.24350	1.86;1.86;1.86	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042980	0.85682	D	0.000000	T	0.39091	0.1065	N	0.21324	0.655	0.80722	D	1	P;P;D;D	0.64830	0.944;0.931;0.994;0.993	P;P;P;D	0.68765	0.892;0.692;0.899;0.96	T	0.33599	-0.9862	10	0.72032	D	0.01	.	18.9969	0.92817	0.0:0.0:1.0:0.0	.	194;59;194;172	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	I	59;172;194	ENSP00000386017:M59I;ENSP00000355885:M172I;ENSP00000355884:M194I	ENSP00000355884:M194I	M	+	3	0	MARK1	218858304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.488000	0.83962	0.650000	0.86243	ATG	MARK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000116141		0.328	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0	51	0	G			220791681	1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	A	A	220791681	G	A	220791681	3	1	100	1	0	0	0	0	1	0	0	0	9350	1290	45	3	612	3	MARK1	1	220791681	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	8665757	220791681	28458940	29	28337											
HEATR1	55127	genome.wustl.edu	37	chr1	236740143	236740143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatcaaatgatctattatCagataaaacggggatgccac	17	9	8	7	1	3	2	2	1	1	1	3	4	3	3	1	2	2	0	1	2	6	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:236740143C>T	ENST00000366582.3	-	21	2976	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L	HEATR1_ENST00000366581.2_Silent_p.L954L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	954					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GATCTATTATCAGATAAAACG	0.443																																																	0													90	93	92					1																	236740143		2203	4300	6503	SO:0001819	synonymous_variant	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2862G>A	1.37:g.236740143C>T			Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.L954	ENST00000366582.3	37	c.2862	CCDS31066.1	1																																																																																			HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.443	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1		0	32	0	C	XM_375853		236740143	-1			no_errors	ENST00000366582	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.061	T	T	236740143	C	T	236740143	2	4	100	1	0	0	0	0	0	0	0	1	7054	813	29	3		3	HEATR1	1	236740143	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	15948462	236740143	12510478	30	28338											
ZNF695	57116	genome.wustl.edu	37	chr1	247151124	247151124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctccaacatgaattctCttacagtcagtaaagcatga	13	13	5	10	0	3	2	1	2	2	0	6	2	4	2	1	0	3	2	1	0	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:247151124C>T	ENST00000339986.7	-	4	840	c.693G>A	c.(691-693)aaG>aaA	p.K231K	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	231					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATGAATTCTCTTACAGTCAG	0.353																																																	0													81	82	82					1																	247151124		1957	4156	6113	SO:0001819	synonymous_variant	0				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"Zinc fingers, C2H2-type", "-"	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.693G>A	1.37:g.247151124C>T			Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K231	ENST00000339986.7	37	c.693	CCDS44344.1	1																																																																																			ZNF695	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197472		0.353	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	-	0	37	0	C	NM_020394		247151124	-1	tier1	-	no_errors	ENST00000339986	ensembl	human	known	74_37	silent	40.91	26	18	SNP	0.496	T	T	247151124	C	T	247151124	2	4	100	1	0	0	0	0	0	0	0	1	18146	912	32	3		3	ZNF695	1	247151124	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	10410981	247151124	2099497	31	28339											
OR2AK2	391191	genome.wustl.edu	37	chr1	248129321	248129321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactaccattcctagccattCtggcttcctatgctcgtgtg	6	15	7	13	1	1	0	0	0	1	0	4	0	3	0	4	1	4	2	4	1	4	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr1:248129321C>G	ENST00000366480.3	+	1	787	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTAGCCATTCTGGCTTCCTA	0.473																																					Melanoma(45;390 1181 23848 28461 41504)												0													100	87	91					1																	248129321		2203	4300	6503	SO:0001583	missense	0			BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"GPCR / Class A : Olfactory receptors"	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.688C>G	1.37:g.248129321C>G	ENSP00000355436:p.Leu230Val		B2RND1|Q6IF05	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L230V	ENST00000366480.3	37	c.688	CCDS31102.1	1	.	.	.	.	.	.	.	.	.	.	.	2.153	-0.394024	0.04899	.	.	ENSG00000187080	ENST00000366480	T	0.00051	8.81	3.04	-6.09	0.02145	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.21240	0.645	0.09310	N	1	B	0.31485	0.325	B	0.39465	0.3	T	0.36939	-0.9727	9	0.02654	T	1	.	3.369	0.07213	0.477:0.2281:0.2095:0.0855	.	230	Q8NG84	O2AK2_HUMAN	V	230	ENSP00000355436:L230V	ENSP00000355436:L230V	L	+	1	2	OR2AK2	246195944	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-7.304000	0.00039	-1.544000	0.01721	0.462000	0.41574	CTG	OR2AK2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187080		0.473	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AK2	HGNC	protein_coding	OTTHUMT00000096858.2	-	0	60	0	C	NM_001004491		248129321	1	tier1	-	no_errors	ENST00000366480	ensembl	human	known	74_37	missense	37.93	54	33	SNP	0.000	G	G	248129321	C	G	248129321	3	3	100	1	0	0	0	0	1	0	0	0	11025	912	32	5	690	5	OR2AK2	1	248129321	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	978197	248129321	1121300	32	28340											
KIDINS220	57498	genome.wustl.edu	37	chr2	8930037	8930037	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatatataagagagccaagaAgctcagtgacactgctattc	15	10	8	8	0	1	3	1	1	0	2	2	4	1	3	1	0	3	2	1	0	7	6	rs369544460		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:8930037A>C	ENST00000256707.3	-	14	1775	c.1594T>G	c.(1594-1596)Ttc>Gtc	p.F532V	KIDINS220_ENST00000418530.1_Missense_Mutation_p.F490V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F532V|KIDINS220_ENST00000319688.5_Missense_Mutation_p.F533V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.F532V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	532	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AGAGCCAAGAAGCTCAGTGAC	0.353																																																	0													78	73	75					2																	8930037		1821	4092	5913	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1594T>G	2.37:g.8930037A>C	ENSP00000256707:p.Phe532Val		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F532V	ENST00000256707.3	37	c.1594	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	A	13.76	2.333446	0.41297	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.64438	0.96;-0.1;-0.06;-0.02;-0.06;-0.07;-0.06	5.2	4.15	0.48705	KAP P-loop (1);	0.360824	0.29892	N	0.010933	T	0.44201	0.1282	N	0.19112	0.55	0.37280	D	0.907819	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.12156	0.007;0.005;0.003;0.002	T	0.40664	-0.9551	10	0.45353	T	0.12	.	7.8202	0.29284	0.8236:0.0:0.1764:0.0	.	533;533;490;532	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	V	279;216;532;532;490;532;533;533	ENSP00000420364:F279V;ENSP00000256707:F532V;ENSP00000411849:F532V;ENSP00000414923:F490V;ENSP00000418974:F532V;ENSP00000419964:F533V;ENSP00000319947:F533V	ENSP00000256707:F532V	F	-	1	0	KIDINS220	8847488	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	2.749000	0.47492	0.953000	0.37825	0.482000	0.46254	TTC	KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.353	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0	36	0	A	NM_020738		8930037	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	C	C	8930037	A	C	8930037	3	2	100	1	0	0	0	0	1	0	0	0	8298	72	3	4	3789	4	KIDINS220	2	8930037	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09		8930037	234269336	33	28341											
NBAS	51594	genome.wustl.edu	37	chr2	15651430	15651430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccacagctagaagcttttGacatgcctacttcagcagtt	10	11	9	11	0	1	2	1	1	0	1	1	2	1	2	2	1	5	4	2	1	3	6	rs149760582		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:15651430G>A	ENST00000281513.5	-	10	816	c.791C>T	c.(790-792)tCa>tTa	p.S264L	NBAS_ENST00000441750.1_Missense_Mutation_p.S264L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	264					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAAGCTTTTGACATGCCTAC	0.378																																																	0								G	LEU/SER	0,4406		0,0,2203	108	109	109		791	4.7	0	2	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	NBAS	NM_015909.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	264/2372	15651430	1,13005	2203	4300	6503	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.791C>T	2.37:g.15651430G>A	ENSP00000281513:p.Ser264Leu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.S264L	ENST00000281513.5	37	c.791	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219823	0.58560	0.0	1.16E-4	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.55588	0.51;0.51	5.62	4.72	0.59763	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.060167	0.64402	D	0.000002	T	0.69079	0.3071	M	0.72894	2.215	0.09310	N	0.999997	D	0.76494	0.999	P	0.61874	0.895	T	0.65455	-0.6164	10	0.87932	D	0	.	15.5903	0.76523	0.0:0.1386:0.8614:0.0	.	264	A2RRP1	NBAS_HUMAN	L	264	ENSP00000413201:S264L;ENSP00000281513:S264L	ENSP00000281513:S264L	S	-	2	0	NBAS	15568881	1.000000	0.71417	0.004000	0.12327	0.932000	0.56968	5.704000	0.68347	1.474000	0.48178	0.467000	0.42956	TCA	NBAS	-	superfamily_Quino_amine_DH_bsu	ENSG00000151779		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	-	0	24	0	G	NM_015909		15651430	-1	tier1	rs149760582	no_errors	ENST00000281513	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.388	A	A	15651430	G	A	15651430	3	1	100	1	0	0	0	0	1	0	0	0	10224	1294	45	3	6496	3	NBAS	2	15651430	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	6721393	15651430	227547943	34	28342											
CGREF1	10669	genome.wustl.edu	37	chr2	27325006	27325006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctccaggggccagagCagctgtcaacatggacagca	11	4	14	12	0	1	1	1	0	0	1	2	2	2	2	2	4	5	5	2	4	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:27325006C>T	ENST00000260595.5	-	5	593	c.301G>A	c.(301-303)Gct>Act	p.A101T	CGREF1_ENST00000405600.1_Missense_Mutation_p.A101T|CGREF1_ENST00000402394.1_Missense_Mutation_p.A101T|CGREF1_ENST00000312734.4_Missense_Mutation_p.A101T|CGREF1_ENST00000402550.1_Missense_Mutation_p.A101T|CGREF1_ENST00000452318.2_Missense_Mutation_p.A5T|CGREF1_ENST00000404694.3_Missense_Mutation_p.A223T			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	101	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGGCCAGAGCAGCTGTCAAC	0.562																																																	0													45	47	46					2																	27325006		2203	4300	6503	SO:0001583	missense	0			BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"EF-hand domain containing"	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.301G>A	2.37:g.27325006C>T	ENSP00000260595:p.Ala101Thr		A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.A101T	ENST00000260595.5	37	c.301		2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990617	0.74589	.	.	ENSG00000138028	ENST00000402550;ENST00000452318;ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T;T;T	0.60040	0.56;0.22;1.51;1.51;1.51;1.51;1.51	4.92	4.04	0.47022	EF-hand-like domain (1);	0.408437	0.28062	N	0.016759	T	0.48150	0.1484	L	0.33485	1.01	0.26175	N	0.979814	P;P;P;P;P	0.42078	0.728;0.77;0.77;0.77;0.484	B;P;B;B;B	0.46389	0.25;0.515;0.263;0.263;0.105	T	0.30679	-0.9970	10	0.21540	T	0.41	-21.6008	7.7295	0.28779	0.0:0.8128:0.0:0.1872	.	5;223;101;101;101	E7EU99;B5MCC9;B5MCP5;Q99674;B5MCB7	.;.;.;CGRE1_HUMAN;.	T	101;5;101;101;101;101;223;101	ENSP00000385103:A101T;ENSP00000395042:A5T;ENSP00000385452:A101T;ENSP00000386113:A101T;ENSP00000324025:A101T;ENSP00000385574:A223T;ENSP00000260595:A101T	ENSP00000260595:A101T	A	-	1	0	CGREF1	27178510	0.503000	0.26115	0.638000	0.29380	0.829000	0.46940	1.176000	0.31957	1.306000	0.44926	0.448000	0.29417	GCT	CGREF1	-	pfscan_EF_hand_dom	ENSG00000138028		0.562	CGREF1-201	KNOWN	basic	protein_coding	CGREF1	HGNC	protein_coding		-	0	29	0	C	NM_006569		27325006	-1	tier1	-	no_errors	ENST00000312734	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.722	T	T	27325006	C	T	27325006	3	4	100	1	0	0	0	0	1	0	0	0	3312	710	25	3	855	3	CGREF1	2	27325006	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	11673576	27325006	215874367	35	28343											
PKDCC	91461	genome.wustl.edu	37	chr2	42281407	42281407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcagcccagggctggtgcGagggcatgaacgagaagcgg	9	4	18	10	3	1	2	1	1	0	1	1	4	1	2	1	4	4	3	1	4	2	0	rs201349790		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:42281407G>A	ENST00000294964.5	+	3	1174	c.994G>A	c.(994-996)Gag>Aag	p.E332K		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GGGCTGGTGCGAGGGCATGAA	0.622																																																	0													45	37	40					2																	42281407		2202	4300	6502	SO:0001583	missense	0				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"vertebrate lonesome kinase"	614150	"protein kinase domain containing, cytoplasmic homolog (mouse)"			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.994G>A	2.37:g.42281407G>A	ENSP00000294964:p.Glu332Lys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.E332K	ENST00000294964.5	37	c.994	CCDS33186.2	2	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313050	0.40895	.	.	ENSG00000162878	ENST00000294964	.	.	.	5.29	4.39	0.52855	Protein kinase, catalytic domain (1);	0.225081	0.47093	D	0.000260	T	0.29389	0.0732	N	0.08118	0	0.40462	D	0.980254	B	0.26602	0.154	B	0.13407	0.009	T	0.14476	-1.0471	9	0.27785	T	0.31	-11.4195	11.9104	0.52735	0.0:0.3846:0.6154:0.0	.	332	Q504Y2	PKDCC_HUMAN	K	332	.	ENSP00000294964:E332K	E	+	1	0	PKDCC	42134911	0.997000	0.39634	0.997000	0.53966	0.953000	0.61014	3.063000	0.49978	2.478000	0.83669	0.561000	0.74099	GAG	PKDCC	-	pfscan_Prot_kinase_dom	ENSG00000162878		0.622	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	-	0	27	0	G			42281407	1	tier1	rs201349790	no_errors	ENST00000294964	ensembl	human	known	74_37	missense	56.52	10	13	SNP	0.999	A	A	42281407	G	A	42281407	3	1	100	1	0	0	0	0	1	0	0	0	12008	1059	37	1	1004	1	PKDCC	2	42281407	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	14956401	42281407	200917966	36	28344											
MTA3	57504	genome.wustl.edu	37	chr2	42931360	42931360	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accaaatcccaaccaaatatCcactagtaatgggaagcctg	16	7	6	12	0	0	0	0	0	0	0	2	1	2	1	5	1	2	1	5	1	7	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:42931360C>G	ENST00000405094.1	+	12	1052	c.1052C>G	c.(1051-1053)tCc>tGc	p.S351C	MTA3_ENST00000406652.1_Missense_Mutation_p.S294C|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000405592.1_Missense_Mutation_p.S294C|MTA3_ENST00000407270.3_Missense_Mutation_p.S351C|MTA3_ENST00000406911.1_Missense_Mutation_p.S350C			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	351						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AACCAAATATCCACTAGTAAT	0.418																																																	0													74	72	72					2																	42931360		1895	4110	6005	SO:0001583	missense	0			AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"GATA zinc finger domain containing"	23784	protein-coding gene	gene with protein product		609050	"metastasis associated gene family, member 3"			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1052C>G	2.37:g.42931360C>G	ENSP00000385823:p.Ser351Cys		Q9NSP2|Q9ULF4	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.S351C	ENST00000405094.1	37	c.1052		2	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344845	0.61073	.	.	ENSG00000057935	ENST00000405592;ENST00000406652;ENST00000407270;ENST00000282366;ENST00000406911;ENST00000405094	T;T;T;T;T	0.49139	0.79;0.79;0.81;0.8;0.8	5.75	3.88	0.44766	.	0.112616	0.64402	D	0.000006	T	0.63510	0.2517	M	0.70595	2.14	0.09310	N	1	D;D;D	0.67145	0.996;0.995;0.991	P;D;P	0.63703	0.827;0.917;0.76	T	0.57400	-0.7818	10	0.39692	T	0.17	-12.9852	13.9164	0.63899	0.3962:0.6038:0.0:0.0	.	350;351;294	E7EQY4;Q9BTC8-2;D6W5A2	.;.;.	C	294;294;351;351;350;351	ENSP00000383973:S294C;ENSP00000384249:S294C;ENSP00000385045:S351C;ENSP00000385241:S350C;ENSP00000385823:S351C	ENSP00000282366:S351C	S	+	2	0	MTA3	42784864	1.000000	0.71417	0.861000	0.33841	0.993000	0.82548	3.175000	0.50855	1.408000	0.46895	0.563000	0.77884	TCC	MTA3	-	NULL	ENSG00000057935		0.418	MTA3-017	KNOWN	basic	protein_coding	MTA3	HGNC	protein_coding	OTTHUMT00000318159.1	-	0	40	0	C	NM_020744		42931360	1	tier1	-	no_errors	ENST00000405094	ensembl	human	known	74_37	missense	34.09	29	15	SNP	0.009	G	G	42931360	C	G	42931360	3	3	100	1	0	0	0	0	1	0	0	0	9948	855	30	5	1098	5	MTA3	2	42931360	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	649953	42931360	200268013	37	28345											
C2orf63	130162	genome.wustl.edu	37	chr2	55439812	55439812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taaacaaaatacaatacctgGaataggttttgaaggatctt	17	12	7	5	0	1	1	0	1	1	0	1	3	1	3	1	3	3	1	1	3	10	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:55439812G>C	ENST00000401408.1	-	5	841	c.496C>G	c.(496-498)Cca>Gca	p.P166A	CLHC1_ENST00000406076.1_Missense_Mutation_p.P44A|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_Intron|AC012358.7_ENST00000366153.2_RNA|CLHC1_ENST00000407122.1_Missense_Mutation_p.P166A	NM_152385.2	NP_689598.2	Q8NHS4	CLHC1_HUMAN	clathrin heavy chain linker domain containing 1	166																	ACAATACCTGGAATAGGTTTT	0.313																																																	0													92	91	91					2																	55439812		2201	4300	6501	SO:0001583	missense	0				CCDS33201.1, CCDS46287.1	2p16.1	2012-08-03	2012-08-03	2012-08-03	ENSG00000162994	ENSG00000162994			26453	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 63"	C2orf63			Standard	NM_152385		Approved	FLJ31438	uc002ryi.2	Q8NHS4	OTTHUMG00000151918	ENST00000401408.1:c.496C>G	2.37:g.55439812G>C	ENSP00000384869:p.Pro166Ala		B2RDV1|Q53R93|Q8N403	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel	p.P166A	ENST00000401408.1	37	c.496	CCDS33201.1	2	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874050	0.72180	.	.	ENSG00000162994	ENST00000407122;ENST00000401408;ENST00000406076	T;T;T	0.36340	1.37;1.37;1.26	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000002	T	0.58864	0.2152	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62201	-0.6904	10	0.72032	D	0.01	.	14.1458	0.65349	0.0:0.0:1.0:0.0	.	166	Q8NHS4	CB063_HUMAN	A	166;166;44	ENSP00000385778:P166A;ENSP00000384869:P166A;ENSP00000385512:P44A	ENSP00000384869:P166A	P	-	1	0	C2orf63	55293316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.670000	0.61583	2.472000	0.83506	0.655000	0.94253	CCA	CLHC1	-	pirsf_Clathrin_heavy-chain-rel	ENSG00000162994		0.313	CLHC1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CLHC1	HGNC	protein_coding	OTTHUMT00000324412.4	-	0	38	0	G	NM_152385		55439812	-1	tier1	-	no_errors	ENST00000401408	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	C	C	55439812	G	C	55439812	3	2	100	1	0	0	0	0	1	0	0	0	2189	1174	41	5	1300	5	C2orf63	2	55439812	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	12508452	55439812	187759561	38	28346											
C2orf3	6936	genome.wustl.edu	37	chr2	75929334	75929334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatccatacttgattcctCagccatcctttgtctaagtg	10	15	5	11	0	2	1	1	1	1	0	5	1	5	1	4	0	2	0	4	0	4	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:75929334C>T	ENST00000321027.3	-	3	743	c.610G>A	c.(610-612)Gag>Aag	p.E204K	GCFC2_ENST00000409857.3_Intron|GCFC2_ENST00000541687.1_Missense_Mutation_p.E204K|GCFC2_ENST00000470503.1_Missense_Mutation_p.E204K	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	204					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										CTTGATTCCTCAGCCATCCTT	0.353																																																	0													166	156	159					2																	75929334		2203	4300	6503	SO:0001583	missense	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"GC binding factor"	189901	"transcription factor 9 (binds GC-rich sequences)", "chromosome 2 open reading frame 3"	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.610G>A	2.37:g.75929334C>T	ENSP00000318690:p.Glu204Lys		A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	pfam_GCFC_dom	p.E204K	ENST00000321027.3	37	c.610	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487168	0.44249	.	.	ENSG00000005436	ENST00000321027;ENST00000541687	T;T	0.38077	2.3;1.16	4.85	3.97	0.46021	.	0.470389	0.22051	N	0.065308	T	0.32406	0.0828	M	0.71581	2.175	0.43761	D	0.996275	P;B	0.36144	0.539;0.079	B;B	0.26202	0.067;0.021	T	0.13548	-1.0505	10	0.29301	T	0.29	-7.5985	11.5532	0.50733	0.0:0.9095:0.0:0.0905	.	204;204	A4UHQ8;P16383	.;GCF_HUMAN	K	204	ENSP00000318690:E204K;ENSP00000437767:E204K	ENSP00000318690:E204K	E	-	1	0	C2orf3	75782842	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	4.121000	0.57904	1.358000	0.45922	0.591000	0.81541	GAG	GCFC2	-	NULL	ENSG00000005436		0.353	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	-	0	53	0	C	NM_003203		75929334	-1	tier1	-	no_errors	ENST00000321027	ensembl	human	known	74_37	missense	30.16	44	19	SNP	1.000	T	T	75929334	C	T	75929334	3	4	100	1	0	0	0	0	1	0	0	0	2169	835	29	3	1795	3	C2orf3	2	75929334	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	20489522	75929334	167270039	39	28347											
BCL2L11	10018	genome.wustl.edu	37	chr2	111907693	111907693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaagagttgcggcgtattgGagacgagtttaacgcttact	10	11	12	8	4	0	2	0	0	0	2	0	4	0	2	1	2	3	4	1	2	4	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:111907693G>A	ENST00000393256.3	+	3	740	c.467G>A	c.(466-468)gGa>gAa	p.G156E	BCL2L11_ENST00000393253.2_Missense_Mutation_p.G66E|BCL2L11_ENST00000357757.2_Missense_Mutation_p.G156E|BCL2L11_ENST00000308659.8_Missense_Mutation_p.G96E	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	156					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CGGCGTATTGGAGACGAGTTT	0.443																																																	0													159	119	133					2																	111907693		2203	4300	6503	SO:0001583	missense	0			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.467G>A	2.37:g.111907693G>A	ENSP00000376943:p.Gly156Glu		A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.G156E	ENST00000393256.3	37	c.467	CCDS2089.1	2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822663	0.90873	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.89	5.89	0.94794	Bcl-x interacting (1);	0.000000	0.56097	D	0.000022	T	0.67515	0.2901	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69243	-0.5196	9	0.87932	D	0	-14.1923	15.7362	0.77846	0.0:0.0:1.0:0.0	.	66;156;96	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	E	96;156;66;156;23	.	ENSP00000309226:G96E	G	+	2	0	BCL2L11	111624164	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	5.870000	0.69620	2.791000	0.96007	0.591000	0.81541	GGA	BCL2L11	-	pfam_Bcl-x_interacting_BH3_dom,pirsf_Bcl-2-like_11	ENSG00000153094		0.443	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	-	0	53	0	G			111907693	1	tier1	-	no_errors	ENST00000393256	ensembl	human	known	74_37	missense	32.65	33	16	SNP	1.000	A	A	111907693	G	A	111907693	3	1	100	1	0	0	0	0	1	0	0	0	1370	1174	41	3	602	3	BCL2L11	2	111907693	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	35978359	111907693	131291680	40	28348											
TUBA3D	113457	genome.wustl.edu	37	chr2	132237645	132237645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtgtggtttctctcaggcgGatctgtgcacaggactgcag	6	12	14	9	1	3	0	1	0	2	0	4	2	3	2	0	4	2	3	0	4	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:132237645G>A	ENST00000321253.6	+	4	486	c.379G>A	c.(379-381)Gat>Aat	p.D127N	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	127					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCTCAGGCGGATCTGTGCAC	0.577																																					Ovarian(137;2059 2432 35543 39401)												0													42	47	45					2																	132237645		2203	4300	6503	SO:0001583	missense	0			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"Tubulins"	24071	protein-coding gene	gene with protein product	"alpha-tubulin isotype H2-alpha"					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.379G>A	2.37:g.132237645G>A	ENSP00000326042:p.Asp127Asn		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.D127N	ENST00000321253.6	37	c.379	CCDS33290.1	2	.	.	.	.	.	.	.	.	.	.	g	5.914	0.352748	0.11182	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.75477	-0.94	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.47093	U	0.000244	T	0.74764	0.3759	M	0.86268	2.805	0.80722	D	1	B	0.06786	0.001	B	0.21360	0.034	T	0.76296	-0.3011	10	0.72032	D	0.01	.	10.1507	0.42791	0.0:0.0:1.0:0.0	.	127	Q13748	TBA3C_HUMAN	N	127	ENSP00000326042:D127N	ENSP00000326042:D127N	D	+	1	0	TUBA3D	131954115	1.000000	0.71417	0.994000	0.49952	0.080000	0.17528	6.286000	0.72665	1.243000	0.43853	0.194000	0.17425	GAT	TUBA3D	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin	ENSG00000075886		0.577	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3D	HGNC	protein_coding	OTTHUMT00000331800.2	-	0	93	0	G	NM_080386		132237645	1	tier1	-	no_errors	ENST00000321253	ensembl	human	known	74_37	missense	35.06	50	27	SNP	1.000	A	A	132237645	G	A	132237645	3	1	100	1	0	0	0	0	1	0	0	0	16796	1174	41	3	393	3	TUBA3D	2	132237645	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	20329952	132237645	110961728	41	28349											
RPRM	56475	genome.wustl.edu	37	chr2	154334906	154334906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacgcacatgaccgcgatCtgcaccacgcgcattatgta	11	7	9	14	5	1	1	0	1	1	0	1	2	1	1	2	0	2	5	2	0	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:154334906C>T	ENST00000325926.3	-	1	416	c.174G>A	c.(172-174)caG>caA	p.Q58Q	AC012501.2_ENST00000424322.1_RNA	NM_019845.2	NP_062819.1	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependent G2 arrest mediator candidate	58					cell cycle arrest (GO:0007050)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)|prostate(1)	4						TGACCGCGATCTGCACCACGC	0.627																																																	0													129	90	104					2																	154334906		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074808	CCDS2198.1	2q24.1	2011-01-26	2005-12-01		ENSG00000177519	ENSG00000177519			24201	protein-coding gene	gene with protein product	"candidate mediator of the p53 dependent G2 arrest", "REPRIMO"	612171	"reprimo, TP53 dependant G2 arrest mediator candidate"			10930422	Standard	NM_019845		Approved	FLJ90327, REPRIMO	uc002tyq.1	Q9NS64	OTTHUMG00000131905	ENST00000325926.3:c.174G>A	2.37:g.154334906C>T			B2R4V1	Silent	SNP	NULL	p.Q58	ENST00000325926.3	37	c.174	CCDS2198.1	2																																																																																			RPRM	-	NULL	ENSG00000177519		0.627	RPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRM	HGNC	protein_coding	OTTHUMT00000254856.1	-	0	25	0	C	NM_019845		154334906	-1	tier1	-	no_errors	ENST00000325926	ensembl	human	known	74_37	silent	31.82	30	14	SNP	1.000	T	T	154334906	C	T	154334906	2	4	100	1	0	0	0	0	0	0	0	1	13663	912	32	3		3	RPRM	2	154334906	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	22097261	154334906	88864467	42	28350											
CDCA7	83879	genome.wustl.edu	37	chr2	174231980	174231980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtgtatttagccaaatatCatggctttgggaatgtgcat	10	16	10	5	0	1	0	1	0	0	0	1	1	1	1	1	2	2	3	1	2	5	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:174231980C>T	ENST00000347703.3	+	8	1195	c.1051C>T	c.(1051-1053)Cat>Tat	p.H351Y	CDCA7_ENST00000306721.3_Missense_Mutation_p.H430Y|CDCA7_ENST00000410101.3_Missense_Mutation_p.H386Y|CDCA7_ENST00000392567.2_Missense_Mutation_p.H301Y|CDCA7_ENST00000410019.3_Missense_Mutation_p.H309Y	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	351	Mediates transcriptional activity.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			AGCCAAATATCATGGCTTTGG	0.453																																																	0													165	151	156					2																	174231980		2203	4300	6503	SO:0001583	missense	0			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.1051C>T	2.37:g.174231980C>T	ENSP00000272789:p.His351Tyr		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	pfam_Znf-4CXXC_R1	p.H430Y	ENST00000347703.3	37	c.1288	CCDS2253.1	2	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554747	0.45487	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.45668	0.91;0.95;0.96;0.89;0.91	5.51	5.51	0.81932	Zinc-finger domain of monoamine-oxidase A repressor R1 (1);	0.000000	0.85682	D	0.000000	T	0.43277	0.1240	N	0.11673	0.155	0.80722	D	1	D;D;D;D	0.76494	0.99;0.998;0.99;0.999	P;D;P;D	0.69824	0.876;0.963;0.904;0.966	T	0.23619	-1.0183	10	0.07482	T	0.82	-20.6051	19.4394	0.94811	0.0:1.0:0.0:0.0	.	309;386;351;430	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	Y	351;301;430;386;309	ENSP00000272789:H351Y;ENSP00000376348:H301Y;ENSP00000306968:H430Y;ENSP00000386656:H386Y;ENSP00000386833:H309Y	ENSP00000306968:H430Y	H	+	1	0	CDCA7	173940226	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.754000	0.85163	2.581000	0.87130	0.655000	0.94253	CAT	CDCA7	-	pfam_Znf-4CXXC_R1	ENSG00000144354		0.453	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7	HGNC	protein_coding	OTTHUMT00000255400.1	-	0	67	0	C	NM_031942		174231980	1	tier1	-	no_errors	ENST00000306721	ensembl	human	known	74_37	missense	48.08	27	25	SNP	1.000	T	T	174231980	C	T	174231980	3	4	100	1	0	0	0	0	1	0	0	0	3097	826	29	3	1322	3	CDCA7	2	174231980	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	19897074	174231980	68967393	43	28351											
TTN	7273	genome.wustl.edu	37	chr2	179667001	179667001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctaaaggagatctgcacGccgggcagagtggaagtgga	11	6	16	8	3	1	2	0	0	1	2	2	5	1	4	1	4	1	3	1	4	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:179667001G>A	ENST00000591111.1	-	3	383	c.159C>T	c.(157-159)ggC>ggT	p.G53G	TTN_ENST00000359218.5_Silent_p.G53G|TTN_ENST00000460472.2_Silent_p.G53G|TTN_ENST00000342992.6_Silent_p.G53G|TTN_ENST00000589042.1_Silent_p.G53G|TTN_ENST00000360870.5_Silent_p.G53G|TTN_ENST00000342175.6_Silent_p.G53G			Q8WZ42	TITIN_HUMAN	titin	32664	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATCTGCACGCCGGGCAGAG	0.517																																																	0													96	85	89					2																	179667001		2203	4300	6503	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.159C>T	2.37:g.179667001G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G53	ENST00000591111.1	37	c.159		2																																																																																			TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.517	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	40	0	G	NM_133378		179667001	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	30.16	43	19	SNP	1.000	A	A	179667001	G	A	179667001	2	1	100	1	0	0	0	0	0	0	0	1	16784	1074	38	1		1	TTN	2	179667001	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	5435021	179667001	63532372	44	28352											
WNT10A	80326	genome.wustl.edu	37	chr2	219757942	219757942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttccactggtgctgtttCgtggtctgcgaagagtgccg	4	12	14	11	4	1	1	0	0	1	1	3	2	2	1	2	2	3	3	2	2	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr2:219757942C>T	ENST00000258411.3	+	4	1836	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	401					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGCTGTTTCGTGGTCTGCG	0.692																																																	0													8	7	8					2																	219757942		2183	4256	6439	SO:0001819	synonymous_variant	0			AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"Wingless-type MMTV integration sites"	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.1203C>T	2.37:g.219757942C>T			Q53S44|Q96TA7|Q9H7S8	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10	p.F401	ENST00000258411.3	37	c.1203	CCDS2426.1	2																																																																																			WNT10A	-	pfam_Wnt,smart_Wnt	ENSG00000135925		0.692	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT10A	HGNC	protein_coding	OTTHUMT00000256730.2	-	0	39	0	C	NM_025216		219757942	1	tier1	-	no_errors	ENST00000258411	ensembl	human	known	74_37	silent	54.05	17	20	SNP	1.000	T	T	219757942	C	T	219757942	2	4	100	1	0	0	0	0	0	0	0	1	17431	883	31	1		1	WNT10A	2	219757942	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	40090941	219757942	23441431	45	28353											
ZNF197	10168	genome.wustl.edu	37	chr3	44671001	44671001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgtggccctggtagagGagctgcagaaagaccttgat	10	8	15	8	0	0	4	0	1	0	3	0	5	0	5	2	4	2	4	2	4	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:44671001G>A	ENST00000396058.1	+	1	522	c.355G>A	c.(355-357)Gag>Aag	p.E119K	ZNF197_ENST00000383745.2_Missense_Mutation_p.E119K|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.E119K|ZNF197_ENST00000383744.4_Missense_Mutation_p.E119K			O14709	ZN197_HUMAN	zinc finger protein 197	119	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CCTGGTAGAGGAGCTGCAGAA	0.567																																																	0													43	43	43					3																	44671001		2203	4300	6503	SO:0001583	missense	0			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.355G>A	3.37:g.44671001G>A	ENSP00000379370:p.Glu119Lys		B2RAH8|Q86VG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E119K	ENST00000396058.1	37	c.355	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922401	0.73213	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	5.09	5.09	0.68999	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.199965	0.24742	N	0.035980	T	0.11793	0.0287	L	0.55103	1.725	0.29758	N	0.835771	P;P	0.48834	0.916;0.822	P;B	0.46110	0.504;0.325	T	0.00899	-1.1522	10	0.72032	D	0.01	.	15.8651	0.79057	0.0:0.0:1.0:0.0	.	119;119	Q86VG0;O14709	.;ZN197_HUMAN	K	119	ENSP00000373250:E119K;ENSP00000345809:E119K;ENSP00000373251:E119K;ENSP00000379370:E119K	ENSP00000334616:E119K	E	+	1	0	ZNF197	44646005	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.802000	0.55553	2.791000	0.96007	0.655000	0.94253	GAG	ZNF197	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000186448		0.567	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	-	0	19	0	G	NM_006991		44671001	1	tier1	-	no_errors	ENST00000344387	ensembl	human	known	74_37	missense	29.09	39	16	SNP	0.995	A	A	44671001	G	A	44671001	3	1	100	1	0	0	0	0	1	0	0	0	17807	1175	41	3	357	3	ZNF197	3	44671001	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		44671001	153351429	46	28354											
KIAA2018	205717	genome.wustl.edu	37	chr3	113376936	113376936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttcaattgaaccctgaGaattaaattcatttggtgtt	11	17	7	6	0	2	2	2	2	0	1	2	3	2	2	1	1	2	2	1	1	5	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:113376936G>T	ENST00000478658.1	-	5	3610	c.3593C>A	c.(3592-3594)tCt>tAt	p.S1198Y	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S1198Y			Q68DE3	K2018_HUMAN	KIAA2018	1198						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S1198Y(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGAACCCTGAGAATTAAATTC	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)											105	93	97					3																	113376936		1847	4099	5946	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3593C>A	3.37:g.113376936G>T	ENSP00000420721:p.Ser1198Tyr		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S1198Y	ENST00000478658.1	37	c.3593	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	13.29	2.194493	0.38806	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15603	2.41;2.41	5.43	4.54	0.55810	.	0.934494	0.09100	N	0.848698	T	0.21841	0.0526	L	0.29908	0.895	0.38313	D	0.943308	P	0.49447	0.924	P	0.46585	0.521	T	0.11012	-1.0605	10	0.87932	D	0	-7.9104	16.0571	0.80814	0.0:0.1345:0.8655:0.0	.	1198	Q68DE3	K2018_HUMAN	Y	1198	ENSP00000320794:S1198Y;ENSP00000420721:S1198Y	ENSP00000320794:S1198Y	S	-	2	0	KIAA2018	114859626	1.000000	0.71417	0.985000	0.45067	0.664000	0.39144	4.829000	0.62737	1.268000	0.44264	0.561000	0.74099	TCT	KIAA2018	-	NULL	ENSG00000176542		0.413	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0	84	0	G	NM_001009899		113376936	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	39.24	48	31	SNP	0.998	T	T	113376936	G	T	113376936	3	4	100	1	0	0	0	0	1	0	0	0	8295	942	33	3	3148	3	KIAA2018	3	113376936	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	68705935	113376936	84645494	47	28355											
CCDC14	64770	genome.wustl.edu	37	chr3	123650025	123650025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatatctggttttccttttCagcagtttctaacttaaact	10	18	4	9	0	3	0	1	0	2	0	4	0	4	0	1	1	3	3	1	1	5	8			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:123650025C>T	ENST00000488653.2	-	12	1936	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	CCDC14_ENST00000310351.4_Missense_Mutation_p.E456K|CCDC14_ENST00000433542.2_Missense_Mutation_p.E575K|CCDC14_ENST00000489746.1_Missense_Mutation_p.E416K|CCDC14_ENST00000485727.1_Missense_Mutation_p.E416K|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	616					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTTTCCTTTTCAGCAGTTTCT	0.363																																																	0													72	71	71					3																	123650025		2203	4300	6503	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1846G>A	3.37:g.123650025C>T	ENSP00000420180:p.Glu616Lys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.E616K	ENST00000488653.2	37	c.1846		3	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856662	0.71834	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.17	3.24	0.37175	.	0.206931	0.40144	N	0.001179	T	0.43166	0.1235	M	0.61703	1.905	0.36233	D	0.852756	B;B;B;B	0.27997	0.197;0.197;0.082;0.197	B;B;B;B	0.25140	0.058;0.058;0.039;0.058	T	0.55749	-0.8092	10	0.56958	D	0.05	.	10.5703	0.45196	0.0:0.8274:0.0:0.1726	.	616;575;416;457	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5	CCD14_HUMAN;.;.;.	K	616;456;416;416;575;597;257	ENSP00000420180:E616K;ENSP00000312031:E456K;ENSP00000418002:E416K;ENSP00000418403:E416K;ENSP00000395706:E575K;ENSP00000386866:E597K;ENSP00000400957:E257K	ENSP00000312031:E456K	E	-	1	0	CCDC14	125132715	0.998000	0.40836	0.999000	0.59377	0.993000	0.82548	2.933000	0.48948	1.407000	0.46875	0.563000	0.77884	GAA	CCDC14	-	NULL	ENSG00000175455		0.363	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		-	0	53	0	C	NM_022757		123650025	-1	tier1	-	no_errors	ENST00000488653	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.986	T	T	123650025	C	T	123650025	3	4	100	1	0	0	0	0	1	0	0	0	2780	835	29	3	1023	3	CCDC14	3	123650025	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	10273089	123650025	74372405	48	28356											
PRR23B	389151	genome.wustl.edu	37	chr3	138739278	138739278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccagcaccaggtcgaCgtcgtccaggggcacacgca	8	4	14	15	4	0	0	0	0	0	0	4	1	2	0	3	4	1	4	3	4	0	0	rs370987581		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:138739278C>T	ENST00000329447.5	-	1	490	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	76										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCAGGTCGACGTCGTCCAGG	0.687																																																	0								C	ILE/VAL	1,4405		0,1,2202	27	24	25		226	1.2	0	3		25	0,8596		0,0,4298	no	missense	PRR23B	NM_001013650.2	29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	76/266	138739278	1,13001	2203	4298	6501	SO:0001583	missense	0			BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.226G>A	3.37:g.138739278C>T	ENSP00000328768:p.Val76Ile		B2RNV9	Missense_Mutation	SNP	pfam_UPF0572	p.V76I	ENST00000329447.5	37	c.226	CCDS33868.1	3	.	.	.	.	.	.	.	.	.	.	C	8.898	0.955566	0.18507	2.27E-4	0.0	ENSG00000184814	ENST00000329447	.	.	.	3.15	1.2	0.21068	.	1.871900	0.03015	N	0.149909	T	0.30448	0.0765	L	0.51422	1.61	0.09310	N	1	P	0.43938	0.822	B	0.37198	0.243	T	0.20009	-1.0288	9	0.37606	T	0.19	.	3.958	0.09398	0.231:0.6376:0.0:0.1314	.	76	Q6ZRT6	PR23B_HUMAN	I	76	.	ENSP00000328768:V76I	V	-	1	0	PRR23B	140221968	0.008000	0.16893	0.012000	0.15200	0.233000	0.25261	0.284000	0.18864	0.293000	0.22520	0.491000	0.48974	GTC	PRR23B	-	pfam_UPF0572	ENSG00000184814		0.687	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23B	HGNC	protein_coding	OTTHUMT00000361501.1	-	0	32	0	C	NM_001013650		138739278	-1	tier1	-	no_errors	ENST00000329447	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.015	T	T	138739278	C	T	138739278	3	4	100	1	0	0	0	0	1	0	0	0	12637	536	19	1	575	1	PRR23B	3	138739278	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	15089253	138739278	59283152	49	28357											
PHC3	80012	genome.wustl.edu	37	chr3	169820479	169820479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccaagtcttcttctgcaGatggataagtaattggaagc	13	11	10	7	0	3	1	0	0	3	1	3	3	3	3	1	2	3	2	1	2	5	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:169820479G>C	ENST00000494943.1	-	14	2653	c.2585C>G	c.(2584-2586)tCt>tGt	p.S862C	PHC3_ENST00000495893.2_Missense_Mutation_p.S874C|PHC3_ENST00000467570.1_Intron			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	862					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTCTTCTGCAGATGGATAAGT	0.443																																																	0													84	81	82					3																	169820479		1898	4124	6022	SO:0001583	missense	0				CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"Sterile alpha motif (SAM) domain containing"	15682	protein-coding gene	gene with protein product	"early development regulator 3", "polyhomeotic like 3"		"polyhomeotic like 3 (Drosophila)"			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2585C>G	3.37:g.169820479G>C	ENSP00000420271:p.Ser862Cys		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.S874C	ENST00000494943.1	37	c.2621		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.51|16.51	3.142443|3.142443	0.57044|0.57044	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000484068|ENST00000494943;ENST00000495893	.|T;T	.|0.37058	.|1.25;1.22	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.088687	.|0.49916	.|D	.|0.000136	T|T	0.46229|0.46229	0.1382|0.1382	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|D;D	.|0.67145	.|0.993;0.996	.|D;D	.|0.74023	.|0.941;0.982	T|T	0.46091|0.46091	-0.9216|-0.9216	5|10	.|0.72032	.|D	.|0.01	-13.6302|-13.6302	13.8619|13.8619	0.63566|0.63566	0.0:0.0:0.8473:0.1527|0.0:0.0:0.8473:0.1527	.|.	.|862;874	.|Q8NDX5;Q8NDX5-7	.|PHC3_HUMAN;.	V|C	40|862;874	.|ENSP00000420271:S862C;ENSP00000420294:S874C	.|ENSP00000420271:S862C	L|S	-|-	1|2	2|0	PHC3|PHC3	171303173|171303173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.166000|4.166000	0.58203|0.58203	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	CTG|TCT	PHC3	-	NULL	ENSG00000173889		0.443	PHC3-004	KNOWN	basic	protein_coding	PHC3	HGNC	protein_coding	OTTHUMT00000352182.3	-	0	27	0	G	NM_024947		169820479	-1	tier1	-	no_errors	ENST00000495893	ensembl	human	known	74_37	missense	51.35	18	19	SNP	1.000	C	C	169820479	G	C	169820479	3	2	100	1	0	0	0	0	1	0	0	0	11857	942	33	5	374	5	PHC3	3	169820479	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	31081201	169820479	28201951	50	28358											
PIK3CA	5290	genome.wustl.edu	37	chr3	178948136	178948136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattagtaaaggagcccaaGaatgcacaaagacaagagaa	20	5	10	6	0	0	4	0	1	0	3	0	6	0	5	1	1	2	2	1	1	8	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:178948136G>A	ENST00000263967.3	+	20	3065	c.2908G>A	c.(2908-2910)Gaa>Aaa	p.E970K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	970	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E970K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGGAGCCCAAGAATGCACAAA	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"		"E, O"	4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(2)|breast(2)											74	73	73					3																	178948136		1810	4078	5888	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"phosphoinositide-3-kinase, catalytic, alpha polypeptide"			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2908G>A	3.37:g.178948136G>A	ENSP00000263967:p.Glu970Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E970K	ENST00000263967.3	37	c.2908	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857176	0.32791	.	.	ENSG00000121879	ENST00000263967	D	0.83163	-1.69	4.99	4.99	0.66335	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.790110	0.11564	N	0.551400	T	0.73202	0.3557	N	0.20304	0.555	0.80722	D	1	P	0.45428	0.858	B	0.41764	0.366	T	0.70099	-0.4965	10	0.02654	T	1	-19.3479	18.6208	0.91321	0.0:0.0:1.0:0.0	.	970	P42336	PK3CA_HUMAN	K	970	ENSP00000263967:E970K	ENSP00000263967:E970K	E	+	1	0	PIK3CA	180430830	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.311000	0.96282	2.459000	0.83118	0.585000	0.79938	GAA	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	-	0	29	0	G			178948136	1	tier1	-	no_errors	ENST00000263967	ensembl	human	known	74_37	missense	45.45	18	15	SNP	1.000	A	A	178948136	G	A	178948136	3	1	100	1	0	0	0	0	1	0	0	0	11952	943	33	3	2982	3	PIK3CA	3	178948136	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	9127657	178948136	19074294	51	28359											
PARL	55486	genome.wustl.edu	37	chr3	183602518	183602518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggctattacctgcgtccGaggagctgcggcggggttag	5	8	18	10	5	0	0	0	0	0	0	1	2	1	1	2	6	4	3	2	6	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:183602518G>A	ENST00000317096.4	-	1	177	c.117C>T	c.(115-117)ctC>ctT	p.L39L	MIR4448_ENST00000584360.1_RNA|PARL_ENST00000435888.1_Silent_p.L39L|PARL_ENST00000311101.5_Silent_p.L39L|RP11-315J22.5_ENST00000445165.1_RNA	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	39					membrane protein proteolysis (GO:0033619)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|proteolysis (GO:0006508)|regulation of protein targeting to mitochondrion (GO:1903214)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCTGCGTCCGAGGAGCTGCG	0.716											OREG0015941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													7	8	8					3																	183602518		2128	4189	6317	SO:0001819	synonymous_variant	0			AF116692	CCDS3248.1, CCDS33897.1	3q27.3	2008-02-05		2006-02-28	ENSG00000175193	ENSG00000175193			18253	protein-coding gene	gene with protein product	"rhomboid 7 homolog 1 (Drosophila)"	607858		PSARL			Standard	XM_005247587		Approved	PRO2207, PSARL1, RHBDS1	uc003fmd.3	Q9H300	OTTHUMG00000156890	ENST00000317096.4:c.117C>T	3.37:g.183602518G>A		1985	Q96CQ4|Q9BTJ6|Q9P1E3	Silent	SNP	pfam_Peptidase_S54_rhomboid_dom	p.L39	ENST00000317096.4	37	c.117	CCDS3248.1	3																																																																																			PARL	-	NULL	ENSG00000175193		0.716	PARL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARL	HGNC	protein_coding	OTTHUMT00000346465.1	-	0	95	0	G	NM_018622		183602518	-1	tier1	-	no_errors	ENST00000317096	ensembl	human	known	74_37	silent	51.48	82	87	SNP	0.748	A	A	183602518	G	A	183602518	2	1	100	1	0	0	0	0	0	0	0	1	11490	1045	37	1		1	PARL	3	183602518	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	4654382	183602518	14419912	52	28360											
CHRD	8646	genome.wustl.edu	37	chr3	184101106	184101107	+	Frame_Shift_Del	DEL	AA	AA	-																															ttgcccctccgtagtcctgcAaagtgtcctttgtggggctg																										TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:184101106_184101107delAA	ENST00000204604.1	+	11	1466_1467	c.1220_1221delAA	c.(1219-1221)caafs	p.Q407fs	CHRD_ENST00000348986.3_Frame_Shift_Del_p.Q407fs|CHRD_ENST00000545352.1_Frame_Shift_Del_p.Q37fs|CHRD_ENST00000450923.1_Frame_Shift_Del_p.Q407fs|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	407	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTAGTCCTGCAAAGTGTCCTTT	0.609																																																	0																																										SO:0001589	frameshift_variant	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1220_1221delAA	3.37:g.184101106_184101107delAA	ENSP00000204604:p.Gln407fs		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Frame_Shift_Del	DEL	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.S408fs	ENST00000204604.1	37	c.1220_1221	CCDS3266.1	3																																																																																			CHRD	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD	ENSG00000090539		0.609	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1		0	29	0	AA	NM_003741		184101107	1	tier1		no_errors	ENST00000204604	ensembl	human	known	74_37	frame_shift_del	59.65	23	34	DEL	1.000:0.999	-	-	184101107	AA	-	184101106	7	5	100	1	0	1	0	1	0	0	0	0	3379	130	5	0	1262	0	CHRD	3	184101106	Frame_Shift_Del	DEL	AA	TCGA-LN-A49M-01A-21D-A27G-09	498588	184101106	13921324	53	28361											
OPA1	4976	genome.wustl.edu	37	chr3	193409881	193409881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaaattcaagaaaaacttGatgctttcattgaagctctt	15	13	7	6	0	3	4	2	2	1	2	3	5	3	4	0	0	3	2	0	0	5	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr3:193409881G>C	ENST00000392438.3	+	28	3082	c.2848G>C	c.(2848-2850)Gat>Cat	p.D950H	OPA1_ENST00000361908.3_Missense_Mutation_p.D987H|OPA1_ENST00000361828.2_Missense_Mutation_p.D968H|OPA1_ENST00000361510.2_Missense_Mutation_p.D1005H|OPA1_ENST00000361150.2_Missense_Mutation_p.D951H|OPA1_ENST00000361715.2_Missense_Mutation_p.D969H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	950					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AGAAAAACTTGATGCTTTCAT	0.274																																																	0			GRCh37	CD070499	OPA1	D							18	19	18					3																	193409881		2165	4259	6424	SO:0001583	missense	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"mitochondrial dynamin-like GTPase", "dynamin-like guanosine triphosphatase", "Dynamin-like 120 kDa protein, mitochondrial"	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2848G>C	3.37:g.193409881G>C	ENSP00000376233:p.Asp950His		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,prints_Dynamin_SF	p.D1005H	ENST00000392438.3	37	c.3013	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879276	0.72294	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95171	-3.21;-3.21;-3.22;-3.22;-3.22;-3.63	5.13	5.13	0.70059	.	0.103125	0.64402	D	0.000003	D	0.91727	0.7384	N	0.12182	0.205	0.47476	D	0.999431	B;B;B;B;P;B;P;B	0.47409	0.019;0.41;0.019;0.019;0.8;0.019;0.895;0.019	B;B;B;B;B;B;P;B	0.49708	0.019;0.135;0.025;0.031;0.259;0.04;0.62;0.04	D	0.93665	0.6985	10	0.87932	D	0	-21.0852	17.5551	0.87888	0.0:0.0:1.0:0.0	.	914;950;932;951;968;987;969;1005	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	987;950;1005;969;968;951	ENSP00000354681:D987H;ENSP00000376233:D950H;ENSP00000355324:D1005H;ENSP00000355311:D969H;ENSP00000354429:D968H;ENSP00000354781:D951H	ENSP00000354781:D951H	D	+	1	0	OPA1	194892575	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.678000	0.84035	2.373000	0.80994	0.650000	0.86243	GAT	OPA1	-	NULL	ENSG00000198836		0.274	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	-	0	65	0	G	NM_130837		193409881	1	tier1	-	no_errors	ENST00000361510	ensembl	human	known	74_37	missense	55.13	35	43	SNP	1.000	C	C	193409881	G	C	193409881	3	2	100	1	0	0	0	0	1	0	0	0	10910	1290	45	5	3131	5	OPA1	3	193409881	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	9308775	193409881	4612549	54	28362											
CNOT6L	246175	genome.wustl.edu	37	chr4	78647324	78647324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggctgccactcactttGaaatcaaaggtgtaattggt	13	11	9	8	0	2	1	2	1	0	0	2	1	2	1	1	3	1	2	1	3	4	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr4:78647324G>T	ENST00000504123.1	-	11	1582	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.F484L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	484	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CACTCACTTTGAAATCAAAGG	0.363																																																	0													165	158	160					4																	78647324		1833	4076	5909	SO:0001583	missense	0			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1452C>A	4.37:g.78647324G>T	ENSP00000424896:p.Phe484Leu		Q9UF92	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.F484L	ENST00000504123.1	37	c.1452		4	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486650	0.84854	.	.	ENSG00000138767	ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	D;D;D;T	0.94497	-3.44;-3.44;-3.44;-0.36	5.78	4.94	0.65067	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.97498	0.9181	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.91635	0.999;0.984	D	0.98202	1.0468	10	0.87932	D	0	-2.7016	14.5744	0.68235	0.0699:0.0:0.9301:0.0	.	457;484	Q96LI5-2;Q96LI5	.;CNO6L_HUMAN	L	484;484;491;259	ENSP00000424896:F484L;ENSP00000264903:F484L;ENSP00000425571:F491L;ENSP00000426320:F259L	ENSP00000264903:F484L	F	-	3	2	CNOT6L	78866348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.196000	0.58407	1.451000	0.47736	0.655000	0.94253	TTC	CNOT6L	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000138767		0.363	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	HGNC	protein_coding	OTTHUMT00000362515.1	-	0	52	0	G			78647324	-1	tier1	-	no_errors	ENST00000264903	ensembl	human	known	74_37	missense	51.43	17	18	SNP	1.000	T	T	78647324	G	T	78647324	3	4	100	1	0	0	0	0	1	0	0	0	3630	1281	45	3	223	3	CNOT6L	4	78647324	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		78647324	112506952	55	28363											
BMP2K	55589	genome.wustl.edu	37	chr4	79832424	79832424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttttagcaagaaggtgaAtgtacaagaatgccatgcag	14	9	11	7	0	0	3	0	1	0	2	0	3	0	3	2	1	4	3	2	1	7	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr4:79832424A>G	ENST00000335016.5	+	16	2889	c.2723A>G	c.(2722-2724)aAt>aGt	p.N908S	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	908					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAGAAGGTGAATGTACAAGAA	0.473																																																	0													60	55	56					4																	79832424		1934	4135	6069	SO:0001583	missense	0			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.2723A>G	4.37:g.79832424A>G	ENSP00000334836:p.Asn908Ser		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N908S	ENST00000335016.5	37	c.2723	CCDS47083.1	4	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.208455	0.00292	.	.	ENSG00000138756	ENST00000335016	T	0.70749	-0.51	5.05	-6.31	0.02001	.	1.225120	0.05582	N	0.573142	T	0.29061	0.0722	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47661	-0.9100	10	0.02654	T	1	0.2158	8.8529	0.35210	0.2954:0.2954:0.4092:0.0	.	908	Q9NSY1	BMP2K_HUMAN	S	908	ENSP00000334836:N908S	ENSP00000334836:N908S	N	+	2	0	BMP2K	80051448	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.432000	0.06956	-0.897000	0.03910	0.397000	0.26171	AAT	BMP2K	-	NULL	ENSG00000138756		0.473	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		-	0	57	0	A	NM_017593		79832424	1	tier1	-	no_errors	ENST00000335016	ensembl	human	known	74_37	missense	50.00	24	24	SNP	0.000	G	G	79832424	A	G	79832424	3	3	100	1	0	0	0	0	1	0	0	0	1462	101	4	4	2823	4	BMP2K	4	79832424	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	1185100	79832424	111321852	56	28364											
PTPN13	5783	genome.wustl.edu	37	chr4	87686556	87686556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctctttagggaggtgtGaatacgagtgtcagacatgg	9	14	13	5	1	2	2	1	1	1	1	3	4	2	3	0	3	1	0	0	3	3	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr4:87686556G>A	ENST00000411767.2	+	26	4221	c.4158G>A	c.(4156-4158)gtG>gtA	p.V1386V	PTPN13_ENST00000511467.1_Silent_p.V1391V|PTPN13_ENST00000316707.6_Silent_p.V1195V|PTPN13_ENST00000436978.1_Silent_p.V1391V|PTPN13_ENST00000427191.2_Silent_p.V1367V			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1386	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGGAGGTGTGAATACGAGTG	0.363																																																	0													73	67	69					4																	87686556		1823	4093	5916	SO:0001819	synonymous_variant	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4158G>A	4.37:g.87686556G>A			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.V1391	ENST00000411767.2	37	c.4173	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000163629		0.363	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	-	0	54	0	G			87686556	1	tier1	-	no_errors	ENST00000436978	ensembl	human	known	74_37	silent	64.29	15	27	SNP	1.000	A	A	87686556	G	A	87686556	2	1	100	1	0	0	0	0	0	0	0	1	12825	1277	45	3		3	PTPN13	4	87686556	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	7854132	87686556	103467720	57	28365											
HHIP	64399	genome.wustl.edu	37	chr4	145640083	145640083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagactcacaatggaaaaCtctacaaaattgtagatccc	16	8	5	12	0	2	2	1	0	1	2	3	3	3	3	2	1	2	1	2	1	7	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr4:145640083C>T	ENST00000296575.3	+	11	2390	c.1735C>T	c.(1735-1737)Ctc>Ttc	p.L579F		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	579					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAATGGAAAACTCTACAAAAT	0.289																																																	0													101	104	103					4																	145640083		2203	4300	6503	SO:0001583	missense	0			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"hedgehog-interacting protein"			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1735C>T	4.37:g.145640083C>T	ENSP00000296575:p.Leu579Phe		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.L579F	ENST00000296575.3	37	c.1735	CCDS3762.1	4	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206270	0.58343	.	.	ENSG00000164161	ENST00000296575	T	0.07327	3.2	5.73	5.73	0.89815	Six-bladed beta-propeller, TolB-like (1);	0.203728	0.44285	D	0.000471	T	0.10078	0.0247	L	0.55990	1.75	0.80722	D	1	P	0.39576	0.679	B	0.32864	0.154	T	0.01844	-1.1262	10	0.72032	D	0.01	-6.1187	14.7064	0.69194	0.1449:0.8551:0.0:0.0	.	579	Q96QV1	HHIP_HUMAN	F	579	ENSP00000296575:L579F	ENSP00000296575:L579F	L	+	1	0	HHIP	145859533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.241000	0.58707	2.703000	0.92315	0.557000	0.71058	CTC	HHIP	-	NULL	ENSG00000164161		0.289	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	HGNC	protein_coding	OTTHUMT00000364887.2	-	0	50	0	C			145640083	1	tier1	-	no_errors	ENST00000296575	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	T	T	145640083	C	T	145640083	3	4	100	1	0	0	0	0	1	0	0	0	7119	565	20	3	1777	3	HHIP	4	145640083	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	57953527	145640083	45514193	58	28366											
NEK1	4750	genome.wustl.edu	37	chr4	170523765	170523765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccaatcttctgtagtCtaacatacttctccatgatt	9	17	3	12	0	5	1	0	1	5	0	7	1	5	1	2	0	2	1	2	0	4	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr4:170523765C>A	ENST00000439128.2	-	2	657	c.17G>T	c.(16-18)aGa>aTa	p.R6I	NEK1_ENST00000511633.1_Missense_Mutation_p.R6I|NEK1_ENST00000507142.1_Missense_Mutation_p.R6I|NEK1_ENST00000512193.1_Missense_Mutation_p.R6I|NEK1_ENST00000510533.1_Missense_Mutation_p.R6I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	6	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTCTGTAGTCTAACATACTT	0.308																																																	0													130	126	127					4																	170523765		1805	4069	5874	SO:0001583	missense	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"NIMA (never in mitosis gene a)-related kinase 1"			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.17G>T	4.37:g.170523765C>A	ENSP00000408020:p.Arg6Ile		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R6I	ENST00000439128.2	37	c.17	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310346	0.40895	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02	5.28	3.27	0.37495	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.181664	0.38217	N	0.001779	T	0.10637	0.0260	N	0.00633	-1.31	0.46241	D	0.998941	B;D;B;D;B	0.55800	0.087;0.973;0.087;0.973;0.107	B;P;B;P;B	0.59825	0.074;0.864;0.096;0.864;0.155	T	0.27297	-1.0078	10	0.23891	T	0.37	.	6.205	0.20598	0.0:0.6532:0.0:0.3468	.	6;6;6;6;6	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	I	6	ENSP00000408020:R6I;ENSP00000423332:R6I;ENSP00000427653:R6I;ENSP00000424757:R6I;ENSP00000424938:R6I	ENSP00000408020:R6I	R	-	2	0	NEK1	170760340	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	1.956000	0.40382	1.211000	0.43351	0.591000	0.81541	AGA	NEK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000137601		0.308	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3		0	36	0	C			170523765	-1			no_errors	ENST00000507142	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.513	A	A	170523765	C	A	170523765	3	1	100	1	0	0	0	0	1	0	0	0	10360	913	32	3	3891	3	NEK1	4	170523765	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	24883682	170523765	20630511	59	28367											
MARCH6	10299	genome.wustl.edu	37	chr5	10403651	10403651	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcattctactactgagaGaggtaagtccacagggaaat	13	10	9	9	0	2	2	1	1	1	1	3	4	3	3	2	2	2	1	2	2	4	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:10403651G>C	ENST00000274140.5	+	15	1462	c.1330G>C	c.(1330-1332)Gag>Cag	p.E444Q	MARCH6_ENST00000503788.1_Missense_Mutation_p.E339Q|MARCH6_ENST00000449913.2_Missense_Mutation_p.E396Q|MARCH6_ENST00000510792.1_Missense_Mutation_p.E142Q	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	444					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ACTACTGAGAGAGGTAAGTCC	0.428																																																	0													140	124	129					5																	10403651		2203	4300	6503	SO:0001583	missense	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	30550	protein-coding gene	gene with protein product		613297	"membrane-associated ring finger (C3HC4) 6"			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1330G>C	5.37:g.10403651G>C	ENSP00000274140:p.Glu444Gln		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E444Q	ENST00000274140.5	37	c.1330	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678524	0.88542	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	M	0.83852	2.665	0.80722	D	1	D;D;D;D	0.89917	0.99;1.0;1.0;1.0	D;D;D;D	0.85130	0.953;0.997;0.997;0.992	T	0.68047	-0.5512	10	0.37606	T	0.19	-20.9075	19.4918	0.95052	0.0:0.0:1.0:0.0	.	339;396;24;444	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	Q	396;339;444;142	ENSP00000414643:E396Q;ENSP00000425930:E339Q;ENSP00000274140:E444Q;ENSP00000424512:E142Q	ENSP00000274140:E444Q	E	+	1	0	MARCH6	10456651	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	9.505000	0.97989	2.616000	0.88540	0.557000	0.71058	GAG	MARCH6	-	NULL	ENSG00000145495		0.428	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	-	0	49	0	G	NM_005885		10403651	1	tier1	-	no_errors	ENST00000274140	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	C	C	10403651	G	C	10403651	3	2	100	1	0	0	0	0	1	0	0	0	9343	943	33	5	1388	5	MARCH6	5	10403651	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		10403651	170511609	60	28368											
DNAH5	1767	genome.wustl.edu	37	chr5	13883156	13883156	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagtgacgcttgcccGgaaaatgggcaaactgttct	10	8	13	10	2	1	2	0	1	1	1	1	3	1	3	2	3	2	3	2	3	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:13883156G>T	ENST00000265104.4	-	20	3135	c.3031C>A	c.(3031-3033)Cgg>Agg	p.R1011R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1011	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACGCTTGCCCGGAAAATGGGC	0.458									Kartagener syndrome																																								0													126	118	121					5																	13883156		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3031C>A	5.37:g.13883156G>T			Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R1011	ENST00000265104.4	37	c.3031	CCDS3882.1	5																																																																																			DNAH5	-	NULL	ENSG00000039139		0.458	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0	22	0	G	NM_001369		13883156	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	13883156	G	T	13883156	2	4	100	1	0	0	0	0	0	0	0	1	4618	1115	39	2		2	DNAH5	5	13883156	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	3479505	13883156	167032104	61	28369											
CDH12	1010	genome.wustl.edu	37	chr5	21842384	21842384	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggcttggatgagtacttGatattgttctttgacttctc	6	19	9	7	0	2	3	0	3	2	0	3	4	2	4	0	2	1	3	0	2	2	9			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:21842384G>A	ENST00000382254.1	-	8	1786	c.700C>T	c.(700-702)Caa>Taa	p.Q234*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q234*|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q194*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	234	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGAGTACTTGATATTGTTCT	0.393										HNSCC(59;0.17)																																							0													255	203	221					5																	21842384		2203	4300	6503	SO:0001587	stop_gained	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"Cadherins / Major cadherins"	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.700C>T	5.37:g.21842384G>A	ENSP00000371689:p.Gln234*		B2RBT1|B7Z2U6|Q86UD2	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q234*	ENST00000382254.1	37	c.700	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.768376	0.99259	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	.	.	.	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	16.0773	0.80976	0.0:0.1336:0.8664:0.0	.	.	.	.	X	234;234;194	.	ENSP00000371689:Q234X	Q	-	1	0	CDH12	21878141	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.670000	0.98625	2.480000	0.83734	0.655000	0.94253	CAA	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000154162		0.393	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0	70	0	G	NM_004061		21842384	-1	tier1	-	no_errors	ENST00000382254	ensembl	human	known	74_37	nonsense	38.67	46	29	SNP	1.000	A	A	21842384	G	A	21842384	4	1	100	1	0	0	0	0	0	1	0	0	3105	1299	45	3	1716	3	CDH12	5	21842384	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	7959228	21842384	159072876	62	28370											
CWC27	10283	genome.wustl.edu	37	chr5	64081312	64081312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttaatttgataggttaCaggggatacagtatataaca	15	15	8	3	0	0	1	0	1	0	0	0	2	0	2	0	3	3	2	0	3	7	10			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:64081312C>T	ENST00000381070.3	+	5	618	c.401C>T	c.(400-402)aCa>aTa	p.T134I	CWC27_ENST00000508024.1_Missense_Mutation_p.T134I	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	134	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGATAGGTTACAGGGGATACA	0.303																																																	1	Unknown(1)	prostate(1)											102	108	106					5																	64081312		2203	4300	6503	SO:0001583	missense	0			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 10"	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.401C>T	5.37:g.64081312C>T	ENSP00000370460:p.Thr134Ile		O60529|O60530|Q96EM3	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.T134I	ENST00000381070.3	37	c.401	CCDS3982.2	5	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869756	0.72065	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.22539	1.95;1.95	5.07	5.07	0.68467	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	N	0.13098	0.295	0.80722	D	1	D;D;D;D	0.63046	0.979;0.962;0.99;0.992	P;P;D;D	0.65573	0.859;0.728;0.914;0.936	T	0.07271	-1.0781	10	0.15952	T	0.53	.	18.6436	0.91404	0.0:1.0:0.0:0.0	.	134;134;134;134	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	I	134	ENSP00000370460:T134I;ENSP00000426802:T134I	ENSP00000370460:T134I	T	+	2	0	CWC27	64117068	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.873000	0.75541	2.636000	0.89361	0.467000	0.42956	ACA	CWC27	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000153015		0.303	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC27	HGNC	protein_coding	OTTHUMT00000157247.4	-	0	60	0	C	NM_005869		64081312	1	tier1	-	no_errors	ENST00000381070	ensembl	human	known	74_37	missense	42.22	26	19	SNP	1.000	T	T	64081312	C	T	64081312	3	4	100	1	0	0	0	0	1	0	0	0	4079	478	17	3	419	3	CWC27	5	64081312	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	42238928	64081312	116833948	63	28371											
SV2C	22987	genome.wustl.edu	37	chr5	75427799	75427799	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaacgatgacgaaggctCaagtgaagccactgaggggc	12	4	15	10	2	1	3	1	3	0	0	1	5	1	3	2	4	2	1	2	4	4	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:75427799C>G	ENST00000502798.2	+	2	666	c.224C>G	c.(223-225)tCa>tGa	p.S75*	SV2C_ENST00000322285.7_Nonsense_Mutation_p.S75*	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	75					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GACGAAGGCTCAAGTGAAGCC	0.507																																																	0													80	83	82					5																	75427799		2095	4244	6339	SO:0001587	stop_gained	0			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.224C>G	5.37:g.75427799C>G	ENSP00000423541:p.Ser75*		Q496K1|Q9UPU8	Nonsense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.S75*	ENST00000502798.2	37	c.224	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	C	40	8.049863	0.98629	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-24.0566	19.9694	0.97278	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000316983:S75X	S	+	2	0	SV2C	75463555	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	5.920000	0.70017	2.719000	0.93026	0.655000	0.94253	TCA	SV2C	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_SV2	ENSG00000122012		0.507	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	-	0	29	0	C			75427799	1	tier1	-	no_errors	ENST00000502798	ensembl	human	known	74_37	nonsense	60.00	6	9	SNP	1.000	G	G	75427799	C	G	75427799	4	3	100	1	0	0	0	0	0	1	0	0	15466	838	29	5	226	5	SV2C	5	75427799	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	11346487	75427799	105487461	64	28372											
TNFAIP8	25816	genome.wustl.edu	37	chr5	118729075	118729075	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggatgaagagaacatatGagcacatgagttaagattgt	15	11	12	3	0	0	5	0	3	0	2	0	7	0	6	0	1	2	3	0	1	4	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:118729075G>A	ENST00000503646.1	+	3	1284	c.596G>A	c.(595-597)tGa>tAa	p.*199*	TNFAIP8_ENST00000513374.1_Silent_p.*211*|TNFAIP8_ENST00000504771.2_Silent_p.*199*|TNFAIP8_ENST00000504642.1_Silent_p.*201*|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Silent_p.*189*			O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	0					defense response to Gram-positive bacterium (GO:0050830)|interleukin-1 beta production (GO:0032611)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		GAGAACATATGAGCACATGAG	0.323																																																	0													66	67	67					5																	118729075		1852	4092	5944	SO:0001819	synonymous_variant	0			AF070671	CCDS47257.1, CCDS47258.1, CCDS68933.1	5q23.1	2008-02-05			ENSG00000145779	ENSG00000145779			17260	protein-coding gene	gene with protein product		612111				10233894, 10644768	Standard	NM_001286813		Approved	GG2-1, MDC-3.13, SCC-S2	uc003ksi.3	O95379	OTTHUMG00000162949	ENST00000503646.1:c.596G>A	5.37:g.118729075G>A			B3KMH1|B3KMI2|B7Z713|Q9P1Q1|Q9UER5|Q9UP47	Silent	SNP	pfam_DUF758	p.*199	ENST00000503646.1	37	c.596	CCDS47258.1	5																																																																																			TNFAIP8	-	NULL	ENSG00000145779		0.323	TNFAIP8-002	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	TNFAIP8	HGNC	protein_coding	OTTHUMT00000371134.2	-	0	51	0	G	NM_014350		118729075	1	tier1	-	no_errors	ENST00000504771	ensembl	human	known	74_37	silent	57.14	12	16	SNP	0.999	A	A	118729075	G	A	118729075	2	1	100	1	0	0	0	0	0	0	0	1	16323	1285	45	3		3	TNFAIP8	5	118729075	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	43301276	118729075	62186185	65	28373											
MYOT	9499	genome.wustl.edu	37	chr5	137211532	137211532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaagctatcaacagtcctCagctggccaacctataaatg	14	10	6	11	0	2	0	2	0	0	0	3	0	3	0	3	1	4	2	3	1	8	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:137211532C>T	ENST00000239926.4	+	3	745	c.371C>T	c.(370-372)tCa>tTa	p.S124L	MYOT_ENST00000509812.1_3'UTR|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_5'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.S9L	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	124	Necessary for interaction with ACTN1.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACAGTCCTCAGCTGGCCAA	0.368																																																	0													94	93	93					5																	137211532		2203	4300	6503	SO:0001583	missense	0			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"Immunoglobulin superfamily / I-set domain containing"	12399	protein-coding gene	gene with protein product		604103	"titin immunoglobulin domain protein (myotilin)", "limb-girdle muscular dystrophy 1A (autosomal dominant)"	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.371C>T	5.37:g.137211532C>T	ENSP00000239926:p.Ser124Leu		A0A4R6|B4DT79	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S124L	ENST00000239926.4	37	c.371	CCDS4194.1	5	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572798	0.28092	.	.	ENSG00000120729	ENST00000239926;ENST00000515645	T;T	0.68331	-0.28;-0.32	5.62	3.83	0.44106	.	0.314300	0.22934	N	0.053865	T	0.47040	0.1424	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26780	-1.0093	10	0.28530	T	0.3	.	8.0402	0.30517	0.3629:0.5623:0.0:0.0748	.	124	Q9UBF9	MYOTI_HUMAN	L	124;9	ENSP00000239926:S124L;ENSP00000426281:S9L	ENSP00000239926:S124L	S	+	2	0	MYOT	137239431	0.109000	0.22037	0.978000	0.43139	0.729000	0.41735	2.015000	0.40961	1.365000	0.46057	0.655000	0.94253	TCA	MYOT	-	NULL	ENSG00000120729		0.368	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2	-	0	22	0	C	NM_006790		137211532	1	tier1	-	no_errors	ENST00000239926	ensembl	human	known	74_37	missense	28.00	18	7	SNP	0.045	T	T	137211532	C	T	137211532	3	4	100	1	0	0	0	0	1	0	0	0	10132	838	29	3	377	3	MYOT	5	137211532	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	18482457	137211532	43703728	66	28374											
CTNNA1	1495	genome.wustl.edu	37	chr5	138266577	138266577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctgccaagaaaattgctGaggcaggatccaggatggac	12	7	14	8	0	0	2	0	1	0	1	1	5	1	5	2	4	3	3	2	4	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:138266577G>A	ENST00000302763.7	+	16	2341	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K	CTNNA1_ENST00000355078.5_Missense_Mutation_p.E648K|CTNNA1_ENST00000518825.1_Missense_Mutation_p.E751K|CTNNA1_ENST00000540387.1_Missense_Mutation_p.E381K	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	751					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAAAATTGCTGAGGCAGGATC	0.507																																																	0													82	83	83					5																	138266577		2203	4300	6503	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2251G>A	5.37:g.138266577G>A	ENSP00000304669:p.Glu751Lys		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.E751K	ENST00000302763.7	37	c.2251	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.959245	0.97145	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387;ENST00000520520	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	M	0.71581	2.175	0.80722	D	1	D;P;P	0.54964	0.969;0.902;0.908	P;P;P	0.57101	0.813;0.733;0.733	T	0.63065	-0.6720	10	0.30078	T	0.28	-27.2739	19.0128	0.92881	0.0:0.0:1.0:0.0	.	751;628;751	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	K	648;751;751;736;751;381;26	ENSP00000347190:E648K;ENSP00000304669:E751K;ENSP00000427821:E751K;ENSP00000438476:E381K;ENSP00000430076:E26K	ENSP00000304669:E751K	E	+	1	0	CTNNA1	138294476	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.635000	0.98437	2.825000	0.97269	0.655000	0.94253	GAG	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	ENSG00000044115		0.507	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0	31	0	G	NM_001903		138266577	1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	A	A	138266577	G	A	138266577	3	1	100	1	0	0	0	0	1	0	0	0	4021	1291	45	3	2309	3	CTNNA1	5	138266577	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1055045	138266577	42648683	67	28375											
PCDHB14	56122	genome.wustl.edu	37	chr5	140603611	140603611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagccccaattctcacttCtacattaaaattcccgacag	13	12	3	13	1	2	0	1	0	2	0	4	1	3	0	3	0	2	0	3	0	5	6	rs201192118		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:140603611C>G	ENST00000239449.4	+	1	534	c.534C>G	c.(532-534)ttC>ttG	p.F178L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.F25L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTCACTTCTACATTAAAA	0.418																																					Ovarian(141;50 1831 27899 33809 37648)												0													76	78	77					5																	140603611		2203	4300	6503	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.534C>G	5.37:g.140603611C>G	ENSP00000239449:p.Phe178Leu		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F178L	ENST00000239449.4	37	c.534	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	13.57	2.276512	0.40294	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.70749	-0.51;-0.51	5.02	4.15	0.48705	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.84915	0.5578	H	0.99565	4.63	0.27786	N	0.942971	P	0.41546	0.754	B	0.44163	0.443	T	0.82259	-0.0546	9	0.87932	D	0	.	9.7384	0.40401	0.0:0.8392:0.0:0.1608	.	178	Q9Y5E9	PCDBE_HUMAN	L	25;178	ENSP00000444518:F25L;ENSP00000239449:F178L	ENSP00000239449:F178L	F	+	3	2	PCDHB14	140583795	0.003000	0.15002	0.997000	0.53966	0.895000	0.52256	-0.002000	0.12924	1.251000	0.43983	0.650000	0.86243	TTC	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120327		0.418	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	26	0	C	NM_018934		140603611	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	24.44	34	11	SNP	0.883	G	G	140603611	C	G	140603611	3	3	100	1	0	0	0	0	1	0	0	0	11578	912	32	5	536	5	PCDHB14	5	140603611	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2337034	140603611	40311649	68	28376											
PCDHB14	56122	genome.wustl.edu	37	chr5	140603882	140603882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccatctcagctaaggatCtggatgcaggaaactatgga	13	8	10	10	0	2	0	1	0	2	0	3	4	2	4	2	4	3	2	2	4	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr5:140603882C>G	ENST00000239449.4	+	1	805	c.805C>G	c.(805-807)Ctg>Gtg	p.L269V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L116V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	269	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTAAGGATCTGGATGCAGG	0.423																																					Ovarian(141;50 1831 27899 33809 37648)												0													53	56	55					5																	140603882		2203	4300	6503	SO:0001583	missense	0			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"Cadherins / Protocadherins : Clustered"	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.805C>G	5.37:g.140603882C>G	ENSP00000239449:p.Leu269Val		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L269V	ENST00000239449.4	37	c.805	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	-	6.361	0.434746	0.12045	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.61627	0.09;0.09	4.75	-2.99	0.05497	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.48502	0.1503	L	0.61218	1.895	0.09310	N	0.999993	B	0.16166	0.016	B	0.32928	0.155	T	0.51276	-0.8726	9	0.38643	T	0.18	.	0.4585	0.00512	0.3425:0.2145:0.1173:0.3257	.	269	Q9Y5E9	PCDBE_HUMAN	V	116;269	ENSP00000444518:L116V;ENSP00000239449:L269V	ENSP00000239449:L269V	L	+	1	2	PCDHB14	140584066	0.000000	0.05858	0.578000	0.28575	0.627000	0.37826	-4.079000	0.00299	-0.644000	0.05465	-0.290000	0.09829	CTG	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120327		0.423	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	-	0	28	0	C	NM_018934		140603882	1	tier1	-	no_errors	ENST00000239449	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.314	G	G	140603882	C	G	140603882	3	3	100	1	0	0	0	0	1	0	0	0	11578	912	32	5	807	5	PCDHB14	5	140603882	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	271	140603882	40311378	69	28377											
CDYL	9425	genome.wustl.edu	37	chr6	4943930	4943930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacaccctataccaccttCggacagagtccagatggctg	12	7	8	14	1	0	2	0	0	0	2	2	3	1	3	4	2	2	1	4	2	3	3	rs372837191		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:4943930C>T	ENST00000328908.5	+	7	1565	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.F424F|CDYL_ENST00000343762.5_Silent_p.F292F|CDYL_ENST00000449732.2_Silent_p.F292F			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	478					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		ATACCACCTTCGGACAGAGTC	0.418																																																	0								C	,,	0,4406		0,0,2203	126	129	128		876,876,1272	3.6	1	6		128	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CDYL	NM_001143970.1,NM_001143971.1,NM_004824.3	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	292/413,292/413,424/545	4943930	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"CDY-like, autosomal", "testis-specific chromodomain Y-like protein"	603778	"chromodomain protein, Y chromosome-like"			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1434C>T	6.37:g.4943930C>T			A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Silent	SNP	pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.F478	ENST00000328908.5	37	c.1434		6																																																																																			CDYL	-	pfam_Crotonase_core_superfam	ENSG00000153046		0.418	CDYL-001	KNOWN	basic	protein_coding	CDYL	HGNC	protein_coding	OTTHUMT00000039736.1	-	0	58	0	C	NM_004824		4943930	1	tier1	-	no_errors	ENST00000328908	ensembl	human	known	74_37	silent	39.19	45	29	SNP	1.000	T	T	4943930	C	T	4943930	2	4	100	1	0	0	0	0	0	0	0	1	3192	883	31	1		1	CDYL	6	4943930	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09		4943930	166171137	70	28378											
DSP	1832	genome.wustl.edu	37	chr6	7583820	7583820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagacagtatctgtttcaGaagccatcaagaaaaatttg	16	10	8	7	0	3	3	2	0	1	3	3	3	3	3	1	0	1	3	1	0	6	3	rs397516951		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:7583820G>A	ENST00000379802.3	+	24	6666	c.6325G>A	c.(6325-6327)Gaa>Aaa	p.E2109K	DSP_ENST00000418664.2_Missense_Mutation_p.E1510K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2109	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCTGTTTCAGAAGCCATCAA	0.448																																																	0													87	94	92					6																	7583820		2203	4300	6503	SO:0001583	missense	0			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"desmoplakin (DPI, DPII)"			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6325G>A	6.37:g.7583820G>A	ENSP00000369129:p.Glu2109Lys		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E2109K	ENST00000379802.3	37	c.6325	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494173	0.85069	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.72942	-0.7;-0.7	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000011	T	0.64983	0.2648	L	0.50333	1.59	0.31687	N	0.642418	P;P	0.49185	0.92;0.905	P;B	0.47346	0.544;0.292	T	0.68834	-0.5304	10	0.66056	D	0.02	.	19.0722	0.93143	0.0:0.0:1.0:0.0	.	1557;2109	Q4LE79;P15924	.;DESP_HUMAN	K	2109;1510	ENSP00000369129:E2109K;ENSP00000396591:E1510K	ENSP00000369129:E2109K	E	+	1	0	DSP	7528819	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.229000	0.78088	2.595000	0.87683	0.655000	0.94253	GAA	DSP	-	smart_Plectin_repeat	ENSG00000096696		0.448	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	-	0	33	0	G	NM_004415		7583820	1	tier1	-	no_errors	ENST00000379802	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.999	A	A	7583820	G	A	7583820	3	1	100	1	0	0	0	0	1	0	0	0	4795	943	33	3	6419	3	DSP	6	7583820	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2639890	7583820	163531247	71	28379											
HIVEP1	3096	genome.wustl.edu	37	chr6	12121877	12121877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtggagtctccaggttgGagactaatgagaattcccac	11	9	13	8	0	1	2	0	1	1	2	3	5	2	3	2	4	0	1	2	4	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:12121877G>A	ENST00000379388.2	+	4	2181	c.1849G>A	c.(1849-1851)Gag>Aag	p.E617K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	617					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTCCAGGTTGGAGACTAATGA	0.507																																																	0													69	67	68					6																	12121877		1951	4171	6122	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.1849G>A	6.37:g.12121877G>A	ENSP00000368698:p.Glu617Lys		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E617K	ENST00000379388.2	37	c.1849	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078067	0.76528	.	.	ENSG00000095951	ENST00000379388	T	0.11604	2.76	5.92	5.04	0.67666	.	0.000000	0.33401	N	0.004945	T	0.10508	0.0257	M	0.76574	2.34	0.80722	D	1	P	0.49635	0.926	B	0.43225	0.412	T	0.04053	-1.0981	9	.	.	.	-22.5597	16.9555	0.86258	0.0:0.1278:0.8722:0.0	.	617	P15822	ZEP1_HUMAN	K	617	ENSP00000368698:E617K	.	E	+	1	0	HIVEP1	12229863	1.000000	0.71417	0.519000	0.27824	0.027000	0.11550	8.006000	0.88564	1.481000	0.48307	0.655000	0.94253	GAG	HIVEP1	-	NULL	ENSG00000095951		0.507	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	29	0	G	NM_002114		12121877	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	missense	25.53	35	12	SNP	0.997	A	A	12121877	G	A	12121877	3	1	100	1	0	0	0	0	1	0	0	0	7213	1175	41	3	1859	3	HIVEP1	6	12121877	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	4538057	12121877	158993190	72	28380											
MYLIP	29116	genome.wustl.edu	37	chr6	16129565	16129565	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagccatgctgtgttaTgtgacgaggccggacgcggt	6	8	15	12	4	0	1	0	1	0	0	0	3	0	2	4	3	2	2	4	3	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:16129565T>C	ENST00000356840.3	+	1	210	c.12T>C	c.(10-12)taT>taC	p.Y4Y	MYLIP_ENST00000349606.4_5'UTR	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	4	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGCTGTGTTATGTGACGAGGC	0.682																																																	0													31	30	31					6																	16129565		2186	4275	6461	SO:0001819	synonymous_variant	0			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.12T>C	6.37:g.16129565T>C			Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Silent	SNP	pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Y4	ENST00000356840.3	37	c.12	CCDS4536.1	6																																																																																			MYLIP	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000007944		0.682	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLIP	HGNC	protein_coding	OTTHUMT00000043864.1	-	0	57	0	T	NM_013262		16129565	1	tier1	-	no_errors	ENST00000356840	ensembl	human	known	74_37	silent	38.60	35	22	SNP	1.000	C	C	16129565	T	C	16129565	2	2	100	1	0	0	0	0	0	0	0	1	10093	1471	51	4		4	MYLIP	6	16129565	Silent	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09	4007688	16129565	154985502	73	28381											
DDR1	780	genome.wustl.edu	37	chr6	30864803	30864803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctccaggtgcacctgtgtGaggtcgacagccctcaagat	8	10	11	12	1	2	2	1	1	1	1	4	3	2	2	3	2	2	1	3	2	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:30864803G>A	ENST00000324771.8	+	16	2430	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	DDR1_ENST00000508312.1_Missense_Mutation_p.E609K|DDR1_ENST00000376568.3_Missense_Mutation_p.E628K|DDR1_ENST00000376567.2_Missense_Mutation_p.E591K|DDR1_ENST00000452441.1_Missense_Mutation_p.E628K|DDR1_ENST00000376570.4_Missense_Mutation_p.E591K|DDR1_ENST00000361741.4_Missense_Mutation_p.E295K|DDR1_ENST00000454612.2_Missense_Mutation_p.E591K|DDR1_ENST00000513240.1_Missense_Mutation_p.E628K|DDR1_ENST00000418800.2_Missense_Mutation_p.E591K|DDR1_ENST00000376569.3_Missense_Mutation_p.E591K|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.E628K			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	628	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GCACCTGTGTGAGGTCGACAG	0.507																																																	0													213	195	201					6																	30864803		2203	4300	6503	SO:0001583	missense	0			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"CD molecules"	2730	protein-coding gene	gene with protein product		600408	"discoidin domain receptor family, member 1"	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1882G>A	6.37:g.30864803G>A	ENSP00000318217:p.Glu628Lys		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E628K	ENST00000324771.8	37	c.1882	CCDS34385.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034403	0.93575	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741;ENST00000451954	D;D;D;D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93370	0.7886	.	.	.	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.997;0.999	D;D;D;D	0.83275	0.995;0.994;0.966;0.996	D	0.93148	0.6547	9	0.49607	T	0.09	.	16.4122	0.83722	0.0:0.0:1.0:0.0	.	609;360;628;628	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	K	628;591;591;591;628;591;628;628;609;591;628;360;295;165	ENSP00000318217:E628K;ENSP00000407699:E591K;ENSP00000406091:E591K;ENSP00000365753:E591K;ENSP00000365759:E628K;ENSP00000365754:E591K;ENSP00000365752:E628K;ENSP00000405039:E628K;ENSP00000422442:E609K;ENSP00000365751:E591K;ENSP00000427552:E628K;ENSP00000398682:E360K;ENSP00000354844:E295K	ENSP00000318217:E628K	E	+	1	0	DDR1	30972782	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.564000	0.82326	2.478000	0.83669	0.561000	0.74099	GAG	DDR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000204580		0.507	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	-	0	63	0	G	NM_013994		30864803	1	tier1	-	no_errors	ENST00000376575	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	A	A	30864803	G	A	30864803	3	1	100	1	0	0	0	0	1	0	0	0	4345	1291	45	3	1932	3	DDR1	6	30864803	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	14735238	30864803	140250264	74	28382											
DPCR1	135656	genome.wustl.edu	37	chr6	30917575	30917575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagagcctacagaaaataGagaaaggacagccaatgaga	20	3	11	7	0	0	4	0	1	0	4	0	7	0	5	2	1	4	1	2	1	6	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:30917575G>C	ENST00000462446.1	+	2	1362	c.1334G>C	c.(1333-1335)aGa>aCa	p.R445T	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	336						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACAGAAAATAGAGAAAGGACA	0.512																																																	0													174	217	204					6																	30917575		692	1591	2283	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1334G>C	6.37:g.30917575G>C	ENSP00000417182:p.Arg445Thr		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.R445T	ENST00000462446.1	37	c.1334	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	2.657	-0.280559	0.05642	.	.	ENSG00000168631	ENST00000462446	T	0.40225	1.04	1.56	-3.13	0.05266	.	.	.	.	.	T	0.05456	0.0144	N	0.14661	0.345	0.09310	N	0.999999	B	0.17038	0.02	B	0.04013	0.001	T	0.34576	-0.9823	9	0.13853	T	0.58	.	3.4968	0.07658	0.5774:0.0:0.2473:0.1752	.	445	E9PEI6	.	T	445	ENSP00000417182:R445T	ENSP00000417182:R445T	R	+	2	0	DPCR1	31025554	0.000000	0.05858	0.000000	0.03702	0.492000	0.33523	-3.566000	0.00429	-1.243000	0.02519	0.000000	0.15137	AGA	DPCR1	-	NULL	ENSG00000168631		0.512	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	-	0	65	0	G	NM_080870		30917575	1	tier1	-	no_errors	ENST00000462446	ensembl	human	novel	74_37	missense	37.84	46	28	SNP	0.000	C	C	30917575	G	C	30917575	3	2	100	1	0	0	0	0	1	0	0	0	4726	942	33	5	1340	5	DPCR1	6	30917575	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	52772	30917575	140197492	75	28383											
BAT2	7916	genome.wustl.edu	37	chr6	31600709	31600709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaggcggtgggggtcctgGaggaaggaccgggccaggac	8	3	22	8	2	0	0	0	0	0	0	1	5	1	5	3	10	0	0	3	10	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:31600709G>C	ENST00000376033.2	+	16	4493	c.4259G>C	c.(4258-4260)gGa>gCa	p.G1420A	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1420A	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1420	4 X 57 AA type A repeats.|Poly-Gly.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGGGTCCTGGAGGAAGGACC	0.612																																																	0													22	26	25					6																	31600709		1507	2707	4214	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"HLA-B associated transcript 2"	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.4259G>C	6.37:g.31600709G>C	ENSP00000365201:p.Gly1420Ala		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.G1420A	ENST00000376033.2	37	c.4259	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874769	0.17395	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.10005	2.92;2.92	5.08	5.08	0.68730	.	0.115278	0.39615	N	0.001314	T	0.06462	0.0166	N	0.19112	0.55	0.48395	D	0.999646	D	0.54397	0.966	P	0.46144	0.505	T	0.19516	-1.0303	10	0.87932	D	0	-7.1531	17.3946	0.87441	0.0:0.0:1.0:0.0	.	1420	P48634	PRC2A_HUMAN	A	1414;1403;1420;1420;645	ENSP00000365175:G1420A;ENSP00000365201:G1420A	ENSP00000365175:G1420A	G	+	2	0	PRRC2A	31708688	1.000000	0.71417	0.996000	0.52242	0.262000	0.26303	4.457000	0.60088	2.633000	0.89246	0.561000	0.74099	GGA	PRRC2A	-	NULL	ENSG00000204469		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	-	0	35	0	G	NM_080686		31600709	1	tier1	-	no_errors	ENST00000376007	ensembl	human	known	74_37	missense	50.00	17	17	SNP	1.000	C	C	31600709	G	C	31600709	3	2	100	1	0	0	0	0	1	0	0	0	1320	1174	41	5	4317	5	BAT2	6	31600709	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	683134	31600709	139514358	76	28384											
KIFC1	3833	genome.wustl.edu	37	chr6	33374170	33374170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgaccccggcttagccctCggccccggggagcgggaacg	5	5	15	16	5	0	1	0	1	0	0	1	3	0	3	5	5	3	1	5	5	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:33374170C>T	ENST00000428849.2	+	8	2184	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	578	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GCTTAGCCCTCGGCCCCGGGG	0.647																																																	0													52	61	58					6																	33374170		2203	4300	6503	SO:0001819	synonymous_variant	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"Kinesins"	6389	protein-coding gene	gene with protein product		603763	"kinesin-like 2"	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1734C>T	6.37:g.33374170C>T			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L578	ENST00000428849.2	37	c.1734	CCDS34430.1	6																																																																																			KIFC1	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000237649		0.647	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	-	0	55	0	C	NM_002263		33374170	1	tier1	-	no_errors	ENST00000428849	ensembl	human	known	74_37	silent	37.04	33	20	SNP	0.000	T	T	33374170	C	T	33374170	2	4	100	1	0	0	0	0	0	0	0	1	8339	871	31	1		1	KIFC1	6	33374170	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1773461	33374170	137740897	77	28385											
GRM4	2914	genome.wustl.edu	37	chr6	34003781	34003781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgagatgaggctgaaggtGatggccagctgtgaggcggg	9	6	20	6	2	0	5	0	4	0	1	0	6	0	5	1	5	2	2	1	5	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:34003781G>C	ENST00000538487.2	-	9	2549	c.2106C>G	c.(2104-2106)atC>atG	p.I702M	GRM4_ENST00000609222.1_Missense_Mutation_p.I569M|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.I569M|GRM4_ENST00000374177.3_Missense_Mutation_p.I586M|GRM4_ENST00000374181.4_Missense_Mutation_p.I702M|GRM4_ENST00000455714.2_Missense_Mutation_p.I562M|GRM4_ENST00000544773.2_Missense_Mutation_p.I533M	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	702					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGCTGAAGGTGATGGCCAGCT	0.632																																																	0													95	105	102					6																	34003781		2203	4300	6503	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2106C>G	6.37:g.34003781G>C	ENSP00000440556:p.Ile702Met		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.I702M	ENST00000538487.2	37	c.2106	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973586	0.53720	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	4.63	1.87	0.25490	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.84326	2.69	0.53005	D	0.99996	P;P;D;D;P	0.76494	0.951;0.76;0.999;0.998;0.863	P;P;D;D;P	0.83275	0.685;0.686;0.996;0.948;0.507	D	0.90027	0.4132	10	0.87932	D	0	.	7.4338	0.27143	0.1452:0.0:0.7202:0.1346	.	655;533;562;702;569	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	M	702;586;394;569;533;702;562	ENSP00000363296:I702M;ENSP00000363292:I586M;ENSP00000445533:I394M;ENSP00000437925:I569M;ENSP00000437730:I533M;ENSP00000440556:I702M;ENSP00000398456:I562M	ENSP00000363292:I586M	I	-	3	3	GRM4	34111759	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.891000	0.56227	0.187000	0.20147	0.462000	0.41574	ATC	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000124493		0.632	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0	28	0	G			34003781	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	C	C	34003781	G	C	34003781	3	2	100	1	0	0	0	0	1	0	0	0	6826	1280	45	5	644	5	GRM4	6	34003781	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	629611	34003781	137111286	78	28386											
ZNF292	23036	genome.wustl.edu	37	chr6	87970002	87970002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgttgggaagtttccatgtGaccagttagagtgtaaatct	11	14	11	5	0	1	2	0	1	1	1	2	3	2	3	2	1	0	4	2	1	4	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:87970002G>A	ENST00000369577.3	+	8	6698	c.6655G>A	c.(6655-6657)Gac>Aac	p.D2219N	ZNF292_ENST00000339907.4_Missense_Mutation_p.D2214N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2219						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTTCCATGTGACCAGTTAGA	0.378																																																	0													142	142	142					6																	87970002		1889	4111	6000	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6655G>A	6.37:g.87970002G>A	ENSP00000358590:p.Asp2219Asn		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D2219N	ENST00000369577.3	37	c.6655	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882097	0.72294	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.46819	3.26;3.27;0.86	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.52741	0.1753	L	0.43646	1.37	0.47153	D	0.999334	D	0.89917	1.0	D	0.83275	0.996	T	0.39901	-0.9591	10	0.23891	T	0.37	.	18.9535	0.92649	0.0:0.0:1.0:0.0	.	2219	O60281	ZN292_HUMAN	N	2219;2214;137	ENSP00000358590:D2219N;ENSP00000342847:D2214N;ENSP00000428857:D137N	ENSP00000342847:D2214N	D	+	1	0	ZNF292	88026721	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.476000	0.97823	2.473000	0.83533	0.591000	0.81541	GAC	ZNF292	-	smart_Znf_C2H2-like	ENSG00000188994		0.378	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	43	0	G	NM_015021		87970002	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	A	A	87970002	G	A	87970002	3	1	100	1	0	0	0	0	1	0	0	0	17874	1290	45	3	6685	3	ZNF292	6	87970002	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	53966221	87970002	83145065	79	28387											
MCHR2	84539	genome.wustl.edu	37	chr6	100395746	100395746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaacacccactctccccctCgggcccattggtgaataaga	11	7	7	16	1	1	2	0	1	1	1	3	2	1	2	4	2	1	0	4	2	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:100395746C>T	ENST00000281806.2	-	3	598	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	MCHR2_ENST00000369212.2_Missense_Mutation_p.R95Q	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTCTCCCCCTCGGGCCCATTG	0.488																																																	0													99	102	101					6																	100395746		2203	4300	6503	SO:0001583	missense	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.284G>A	6.37:g.100395746C>T	ENSP00000281806:p.Arg95Gln		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.R95Q	ENST00000281806.2	37	c.284	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	C	9.769	1.172093	0.21704	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.71698	-0.59;-0.59;-0.59	4.57	0.0436	0.14222	GPCR, rhodopsin-like superfamily (1);	0.365474	0.20851	N	0.084534	T	0.24890	0.0604	N	0.11341	0.13	0.19300	N	0.999977	B	0.06786	0.001	B	0.13407	0.009	T	0.28170	-1.0052	10	0.35671	T	0.21	.	8.1229	0.30982	0.0:0.5776:0.0:0.4224	.	95	Q969V1	MCHR2_HUMAN	Q	95	ENSP00000403490:R95Q;ENSP00000281806:R95Q;ENSP00000358214:R95Q	ENSP00000281806:R95Q	R	-	2	0	MCHR2	100502467	0.000000	0.05858	0.328000	0.25416	0.920000	0.55202	-0.295000	0.08298	-0.392000	0.07751	0.650000	0.86243	CGA	MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor	ENSG00000152034		0.488	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2	-	0	34	0	C	NM_032503		100395746	-1	tier1	-	no_errors	ENST00000281806	ensembl	human	known	74_37	missense	40.00	23	16	SNP	0.388	T	T	100395746	C	T	100395746	3	4	100	1	0	0	0	0	1	0	0	0	9421	884	31	1	754	1	MCHR2	6	100395746	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	12425744	100395746	70719321	80	28388											
GRIK2	2898	genome.wustl.edu	37	chr6	102337692	102337692	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatatctggatgtatattCtgctggcttacttgggtgtc	6	17	11	7	0	2	1	0	1	2	0	3	2	2	2	0	3	2	3	0	3	4	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:102337692C>T	ENST00000421544.1	+	11	2192	c.1702C>T	c.(1702-1704)Ctg>Ttg	p.L568L	GRIK2_ENST00000369138.1_Silent_p.L568L|GRIK2_ENST00000369134.4_Silent_p.L519L|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000413795.1_Silent_p.L568L|GRIK2_ENST00000318991.6_Silent_p.L568L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	568					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GATGTATATTCTGCTGGCTTA	0.433																																																	0													190	190	190					6																	102337692		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1702C>T	6.37:g.102337692C>T			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L568	ENST00000421544.1	37	c.1702	CCDS5048.1	6																																																																																			GRIK2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000164418		0.433	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1	-	0	11	0	C			102337692	1	tier1	-	no_errors	ENST00000421544	ensembl	human	known	74_37	silent	31.03	20	9	SNP	1.000	T	T	102337692	C	T	102337692	2	4	100	1	0	0	0	0	0	0	0	1	6801	912	32	3		3	GRIK2	6	102337692	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1941946	102337692	68777375	81	28389											
C6orf204	387119	genome.wustl.edu	37	chr6	118886706	118886706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttacctgcattggtgtttCacttccttgtcgaaagtctt	6	17	7	11	1	2	0	1	0	1	0	4	1	3	0	3	1	2	2	3	1	2	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:118886706C>G	ENST00000368491.3	-	3	1627	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	CEP85L_ENST00000419517.2_Missense_Mutation_p.E336Q|CEP85L_ENST00000360290.3_Missense_Mutation_p.E234Q|CEP85L_ENST00000472713.1_5'Flank|CEP85L_ENST00000368488.5_Missense_Mutation_p.E339Q|CEP85L_ENST00000392500.3_Missense_Mutation_p.E339Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	336						centrosome (GO:0005813)|cytoplasm (GO:0005737)											ATTGGTGTTTCACTTCCTTGT	0.423																																																	0													116	116	116					6																	118886706		2203	4300	6503	SO:0001583	missense	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1006G>C	6.37:g.118886706C>G	ENSP00000357477:p.Glu336Gln		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.E339Q	ENST00000368491.3	37	c.1015	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065790	0.55539	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.29397	2.81;2.8;2.21;1.89;1.57;1.9	6.07	6.07	0.98685	.	0.267200	0.37809	N	0.001928	T	0.34424	0.0897	L	0.42245	1.32	0.51767	D	0.999933	D;D;D;P;P	0.55800	0.973;0.973;0.973;0.934;0.934	P;P;P;P;P	0.55161	0.77;0.71;0.71;0.71;0.71	T	0.01159	-1.1433	10	0.49607	T	0.09	-15.4251	18.8399	0.92180	0.0:1.0:0.0:0.0	.	234;339;336;339;336	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	Q	336;339;339;339;234;336	ENSP00000357477:E336Q;ENSP00000357474:E339Q;ENSP00000392131:E339Q;ENSP00000376288:E339Q;ENSP00000353434:E234Q;ENSP00000393317:E336Q	ENSP00000353434:E234Q	E	-	1	0	C6orf204	118993399	1.000000	0.71417	0.992000	0.48379	0.448000	0.32197	4.587000	0.60991	2.885000	0.99019	0.655000	0.94253	GAA	CEP85L	-	NULL	ENSG00000111860		0.423	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0	19	0	C	NM_001042475		118886706	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	G	G	118886706	C	G	118886706	3	3	100	1	0	0	0	0	1	0	0	0	2360	835	29	5	1509	5	C6orf204	6	118886706	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	16549014	118886706	52228361	82	28390											
VTA1	51534	genome.wustl.edu	37	chr6	142525187	142525187	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgatcccgcacttttcAatacaatttcccagggtaag	11	12	6	12	1	1	1	1	1	0	0	3	1	3	1	3	1	1	2	3	1	4	6	rs199631870		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:142525187A>C	ENST00000367630.4	+	7	821	c.763A>C	c.(763-765)Aat>Cat	p.N255H	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.N197H	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	255	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CGCACTTTTCAATACAATTTC	0.383																																																	0													133	117	122					6																	142525187		2203	4300	6503	SO:0001583	missense	0			AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"chromosome 6 open reading frame 55", "Vps20-associated 1 homolog (S. cerevisiae)"	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.763A>C	6.37:g.142525187A>C	ENSP00000356602:p.Asn255His		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	NULL	p.N255H	ENST00000367630.4	37	c.763	CCDS5197.1	6	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280775	0.40294	.	.	ENSG00000009844	ENST00000367630;ENST00000367621	T;T	0.43688	0.94;0.94	5.29	5.29	0.74685	.	0.372577	0.34580	N	0.003852	T	0.16599	0.0399	N	0.22421	0.69	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	T	0.04723	-1.0931	10	0.39692	T	0.17	-3.2542	13.1921	0.59717	1.0:0.0:0.0:0.0	.	255	Q9NP79	VTA1_HUMAN	H	255;197	ENSP00000356602:N255H;ENSP00000356593:N197H	ENSP00000356593:N197H	N	+	1	0	VTA1	142566880	0.999000	0.42202	0.933000	0.37362	0.963000	0.63663	5.026000	0.64103	1.988000	0.58038	0.460000	0.39030	AAT	VTA1	-	NULL	ENSG00000009844		0.383	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTA1	HGNC	protein_coding	OTTHUMT00000042483.2	-	0	61	0	A	NM_016485		142525187	1	tier1	-	no_errors	ENST00000367630	ensembl	human	known	74_37	missense	40.26	46	31	SNP	0.979	C	C	142525187	A	C	142525187	3	2	100	1	0	0	0	0	1	0	0	0	17282	130	5	4	789	4	VTA1	6	142525187	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	23638481	142525187	28589880	83	28391											
IGF2R	3482	genome.wustl.edu	37	chr6	160501186	160501186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgacggcgtcccctgtgtCttccccttcatattcaatgg	6	13	9	13	2	3	1	2	1	1	0	5	2	5	1	4	2	0	0	4	2	2	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr6:160501186C>G	ENST00000356956.1	+	39	5860	c.5712C>G	c.(5710-5712)gtC>gtG	p.V1904V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1904	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCCCCTGTGTCTTCCCCTTCA	0.537																																																	0													152	139	144					6																	160501186		2203	4300	6503	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"CD molecules"	5467	protein-coding gene	gene with protein product	"cation-independent mannose-6 phosphate receptor"	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5712C>G	6.37:g.160501186C>G			Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.V1904	ENST00000356956.1	37	c.5712	CCDS5273.1	6																																																																																			IGF2R	-	pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000197081		0.537	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0	29	0	C	NM_000876		160501186	1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	silent	41.38	17	12	SNP	1.000	G	G	160501186	C	G	160501186	2	3	100	1	0	0	0	0	0	0	0	1	7603	900	32	5		5	IGF2R	6	160501186	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	17975999	160501186	10613881	84	28392											
CYP2W1	54905	genome.wustl.edu	37	chr7	1024706	1024706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgcaggagctgaaatGcctctctgggcagctggatg	8	10	14	9	0	2	1	0	1	2	0	3	4	2	3	1	3	4	4	1	3	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:1024706G>T	ENST00000308919.7	+	3	471	c.458G>T	c.(457-459)tGc>tTc	p.C153F	CYP2W1_ENST00000340150.6_Missense_Mutation_p.C97F	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	153					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GAGCTGAAATGCCTCTCTGGG	0.721																																																	0													30	36	34					7																	1024706		2198	4298	6496	SO:0001583	missense	0			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"Cytochrome P450s"	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.458G>T	7.37:g.1024706G>T	ENSP00000310149:p.Cys153Phe			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.C153F	ENST00000308919.7	37	c.458	CCDS5319.2	7	.	.	.	.	.	.	.	.	.	.	G	0.154	-1.088765	0.01873	.	.	ENSG00000073067	ENST00000308919;ENST00000340150	T;T	0.68479	-0.33;-0.33	5.09	-0.231	0.13086	.	0.647706	0.18018	N	0.154325	T	0.41373	0.1156	N	0.25245	0.725	0.21604	N	0.999626	B;B	0.11235	0.001;0.004	B;B	0.13407	0.006;0.009	T	0.17715	-1.0360	10	0.08837	T	0.75	.	4.8768	0.13660	0.3984:0.0:0.3804:0.2212	.	97;153	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	F	153;97	ENSP00000310149:C153F;ENSP00000344178:C97F	ENSP00000310149:C153F	C	+	2	0	CYP2W1	991232	0.024000	0.19004	0.028000	0.17463	0.027000	0.11550	0.341000	0.19909	0.188000	0.20168	0.491000	0.48974	TGC	CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000073067		0.721	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0	82	0	G	NM_017781		1024706	1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	missense	28.04	77	30	SNP	0.053	T	T	1024706	G	T	1024706	3	4	100	1	0	0	0	0	1	0	0	0	4185	1319	46	3	468	3	CYP2W1	7	1024706	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		1024706	158113957	85	28393											
SLC29A4	222962	genome.wustl.edu	37	chr7	5336607	5336607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgagccgcatcctcacGaagctgctgctgcccgacga	7	8	10	16	4	2	1	1	1	1	0	4	4	3	1	3	0	5	4	3	0	1	0	rs138555653		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:5336607G>A	ENST00000396872.3	+	7	821	c.660G>A	c.(658-660)acG>acA	p.T220T	SLC29A4_ENST00000297195.4_Silent_p.T220T|SLC29A4_ENST00000406453.3_Silent_p.T206T			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	220					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GCATCCTCACGAAGCTGCTGC	0.687																																																	0													18	18	18					7																	5336607		2182	4251	6433	SO:0001819	synonymous_variant	0			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"Solute carriers"	23097	protein-coding gene	gene with protein product		609149	"solute carrier family 29 (nucleoside transporters), member 4"			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.660G>A	7.37:g.5336607G>A			Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.T220	ENST00000396872.3	37	c.660	CCDS5340.1	7																																																																																			SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	ENSG00000164638		0.687	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	-	0	58	0	G	NM_153247		5336607	1	tier1	-	no_errors	ENST00000297195	ensembl	human	known	74_37	silent	7.69	72	6	SNP	1.000	A	A	5336607	G	A	5336607	2	1	100	1	0	0	0	0	0	0	0	1	14582	1045	37	1		1	SLC29A4	7	5336607	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	4311901	5336607	153802056	86	28394											
TNRC18	84629	genome.wustl.edu	37	chr7	5427355	5427355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctaccagcccaggcccCagccggccactgccgccact	6	5	10	20	2	1	0	0	0	1	0	1	0	1	0	8	3	4	0	8	3	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:5427355C>T	ENST00000430969.1	-	5	2448	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	TNRC18_ENST00000399537.4_Silent_p.L700L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	700							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCCAGGCCCCAGCCGGCCAC	0.657																																																	0													32	40	38					7																	5427355		1924	4062	5986	SO:0001819	synonymous_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"Trinucleotide (CAG) repeat containing"	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.2100G>A	7.37:g.5427355C>T			A8MX41|Q96JH1|Q96K91	Silent	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.L700	ENST00000430969.1	37	c.2100	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.657	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		-	0	20	0	C			5427355	-1	tier1	-	no_errors	ENST00000399537	ensembl	human	known	74_37	silent	26.19	31	11	SNP	1.000	T	T	5427355	C	T	5427355	2	4	100	1	0	0	0	0	0	0	0	1	16386	581	21	3		3	TNRC18	7	5427355	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	90748	5427355	153711308	87	28395											
ISPD	729920	genome.wustl.edu	37	chr7	16445718	16445718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagctgtgacaactttaaGaaggacaccttcctcaacaa	15	8	7	11	0	1	2	1	1	0	1	2	3	2	3	2	1	4	2	2	1	5	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:16445718G>C	ENST00000407010.2	-	2	501	c.502C>G	c.(502-504)Ctt>Gtt	p.L168V	ISPD_ENST00000399310.3_Missense_Mutation_p.L168V	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	168					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAACTTTAAGAAGGACACCT	0.413										Multiple Myeloma(15;0.18)																																							0													93	85	88					7																	16445718		1903	4113	6016	SO:0001583	missense	0			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"notch1-induced protein", "4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.502C>G	7.37:g.16445718G>C	ENSP00000385478:p.Leu168Val		A8MU35|H9KVB2	Missense_Mutation	SNP	pfam_IspD	p.L168V	ENST00000407010.2	37	c.502		7	.	.	.	.	.	.	.	.	.	.	G	6.458	0.452595	0.12283	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	D;D	0.85773	-2.03;-2.03	5.88	2.93	0.34026	4-diphosphocytidyl-2C-methyl-D-erythritol synthase (1);	0.885835	0.09540	U	0.788345	T	0.79713	0.4493	L	0.34521	1.04	0.09310	N	1	P	0.47034	0.889	P	0.45167	0.472	T	0.65438	-0.6168	10	0.30078	T	0.28	-7.1321	8.9464	0.35762	0.2503:0.1164:0.6333:0.0	.	168	A4D126	ISPD_HUMAN	V	168	ENSP00000385478:L168V;ENSP00000382249:L168V	ENSP00000382249:L168V	L	-	1	0	ISPD	16412243	0.000000	0.05858	0.407000	0.26434	0.199000	0.23934	0.635000	0.24629	0.824000	0.34613	-0.140000	0.14226	CTT	ISPD	-	pfam_IspD	ENSG00000214960		0.413	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	HGNC	protein_coding	OTTHUMT00000326252.4	-	0	44	0	G	NM_001101426		16445718	-1	tier1	-	no_errors	ENST00000407010	ensembl	human	known	74_37	missense	38.64	27	17	SNP	0.000	C	C	16445718	G	C	16445718	3	2	100	1	0	0	0	0	1	0	0	0	7891	942	33	5	889	5	ISPD	7	16445718	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	11018363	16445718	142692945	88	28396											
HOXA3	3200	genome.wustl.edu	37	chr7	27147685	27147685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccccatagtccatggcgCccgaggcagcgtgggggagg	7	4	16	14	3	0	0	0	0	0	0	1	2	1	1	4	5	1	1	4	5	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:27147685C>T	ENST00000396352.4	-	3	1380	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.G394D|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	394					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTCCATGGCGCCCGAGGCAGC	0.711																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0													30	33	32					7																	27147685		2202	4300	6502	SO:0001583	missense	0				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1181G>A	7.37:g.27147685C>T	ENSP00000379640:p.Gly394Asp		A4D181	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G394D	ENST00000396352.4	37	c.1181	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771820	0.31320	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.85702	-2.02;-2.02	5.6	3.79	0.43588	.	0.112881	0.64402	D	0.000013	T	0.80849	0.4702	L	0.38175	1.15	0.30100	N	0.807552	B	0.18013	0.025	B	0.34301	0.179	T	0.76666	-0.2875	10	0.66056	D	0.02	.	9.9192	0.41453	0.0:0.1547:0.5872:0.2581	.	394	O43365	HXA3_HUMAN	D	394;394;236	ENSP00000379640:G394D;ENSP00000324884:G394D	ENSP00000324884:G394D	G	-	2	0	HOXA3	27114210	1.000000	0.71417	0.475000	0.27278	0.801000	0.45260	4.095000	0.57728	0.715000	0.32103	-0.229000	0.12294	GGC	HOXA3	-	NULL	ENSG00000105997		0.711	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2		0	16	0	C			27147685	-1			no_errors	ENST00000317201	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.988	T	T	27147685	C	T	27147685	3	4	100	1	0	0	0	0	1	0	0	0	7320	739	26	3	154	3	HOXA3	7	27147685	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	10701967	27147685	131990978	89	28397											
CDK13	8621	genome.wustl.edu	37	chr7	39991112	39991112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtccaaggagccgccttCggcctacaaggaaccgccca	9	5	11	16	4	0	0	0	0	0	0	3	2	1	2	6	3	3	0	6	3	4	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:39991112C>T	ENST00000181839.4	+	1	1477	c.872C>T	c.(871-873)tCg>tTg	p.S291L	RP11-467D6.1_ENST00000569710.1_RNA|CDK13_ENST00000340829.5_Missense_Mutation_p.S291L	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	291					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GAGCCGCCTTCGGCCTACAAG	0.677																																																	0													7	7	7					7																	39991112		2101	4143	6244	SO:0001583	missense	0			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"Cyclin-dependent kinases"	1733	protein-coding gene	gene with protein product	"cholinesterase-related cell division controller"	603309	"cell division cycle 2-like 5 (cholinesterase-related cell division controller)"	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.872C>T	7.37:g.39991112C>T	ENSP00000181839:p.Ser291Leu		Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S291L	ENST00000181839.4	37	c.872	CCDS5461.1	7	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536463	0.65085	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.19669	2.13;2.13	3.96	3.96	0.45880	.	.	.	.	.	T	0.14399	0.0348	L	0.27053	0.805	0.44330	D	0.99721	P;P	0.52463	0.953;0.921	B;B	0.38296	0.27;0.139	T	0.08432	-1.0722	8	.	.	.	-3.9257	15.4476	0.75243	0.0:1.0:0.0:0.0	.	291;291	Q14004-2;Q14004	.;CDK13_HUMAN	L	291	ENSP00000181839:S291L;ENSP00000340557:S291L	.	S	+	2	0	CDK13	39957637	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.718000	0.54919	1.918000	0.55548	0.456000	0.33151	TCG	CDK13	-	NULL	ENSG00000065883		0.677	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK13	HGNC	protein_coding	OTTHUMT00000250726.2	-	0	9	0	C	NM_003718		39991112	1	tier1	-	no_errors	ENST00000181839	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	T	T	39991112	C	T	39991112	3	4	100	1	0	0	0	0	1	0	0	0	3136	893	31	1	874	1	CDK13	7	39991112	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	12843427	39991112	119147551	90	28398											
ZNF92	168374	genome.wustl.edu	37	chr7	64863308	64863308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcacagcataaaagattCtttccaaaaagtgatactga	18	9	7	7	0	1	4	0	2	1	2	2	4	2	4	1	0	3	2	1	0	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:64863308C>A	ENST00000328747.7	+	4	480	c.281C>A	c.(280-282)tCt>tAt	p.S94Y	ZNF92_ENST00000357512.2_Missense_Mutation_p.S62Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.S18Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.S25Y	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	94					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				ATAAAAGATTCTTTCCAAAAA	0.333																																																	0													50	53	52					7																	64863308		2203	4300	6503	SO:0001583	missense	0			M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"Zinc fingers, C2H2-type", "-"	13168	protein-coding gene	gene with protein product		603974	"zinc finger protein 92 (HTF12)"			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.281C>A	7.37:g.64863308C>A	ENSP00000332595:p.Ser94Tyr		A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S94Y	ENST00000328747.7	37	c.281	CCDS34646.1	7	.	.	.	.	.	.	.	.	.	.	C	3.968	-0.008856	0.07727	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.06849	3.42;3.25;3.41;3.25	0.418	0.418	0.16429	.	.	.	.	.	T	0.09818	0.0241	L	0.60067	1.865	0.09310	N	1	B;B	0.26547	0.152;0.021	B;B	0.31547	0.132;0.029	T	0.32025	-0.9922	8	0.38643	T	0.18	.	.	.	.	.	62;94	Q03936-3;Q03936	.;ZNF92_HUMAN	Y	94;18;62;25	ENSP00000332595:S94Y;ENSP00000400495:S18Y;ENSP00000350113:S62Y;ENSP00000396126:S25Y	ENSP00000332595:S94Y	S	+	2	0	ZNF92	64500743	0.000000	0.05858	0.137000	0.22149	0.134000	0.20937	-1.007000	0.03667	0.452000	0.26830	0.460000	0.39030	TCT	ZNF92	-	NULL	ENSG00000146757		0.333	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF92	HGNC	protein_coding	OTTHUMT00000344589.2		0	39	0	C	NM_152626		64863308	1			no_errors	ENST00000328747	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.062	A	A	64863308	C	A	64863308	3	1	100	1	0	0	0	0	1	0	0	0	18249	913	32	3	295	3	ZNF92	7	64863308	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	24872196	64863308	94275355	91	28399											
CRCP	27297	genome.wustl.edu	37	chr7	65617254	65617254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagctcttctccacacCgtcaccagcattctgcctgc	8	11	6	16	1	4	1	1	1	3	0	5	1	4	1	4	0	4	2	4	0	1	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:65617254C>T	ENST00000395326.3	+	6	715	c.357C>T	c.(355-357)acC>acT	p.T119T	CRCP_ENST00000492264.1_3'UTR|CRCP_ENST00000398684.2_Silent_p.T42T|CRCP_ENST00000338592.5_Silent_p.T86T|CRCP_ENST00000431089.2_Silent_p.T112T|RP5-1132H15.1_ENST00000435524.2_RNA|CRCP_ENST00000415001.2_Silent_p.T86T	NM_014478.4	NP_055293.1	O75575	RPC9_HUMAN	CGRP receptor component	119					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|neuropeptide signaling pathway (GO:0007218)|transcription from RNA polymerase III promoter (GO:0006383)	acrosomal vesicle (GO:0001669)|DNA polymerase III complex (GO:0009360)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcitonin gene-related polypeptide receptor activity (GO:0001635)|DNA-directed RNA polymerase activity (GO:0003899)|nucleotide binding (GO:0000166)			cervix(1)|kidney(1)|lung(4)	6						TTCTCCACACCGTCACCAGCA	0.507																																																	0													85	75	78					7																	65617254		2203	4300	6503	SO:0001819	synonymous_variant	0			AF073792	CCDS5532.1, CCDS47599.1, CCDS47600.1, CCDS55116.1	7q11.1	2009-01-14			ENSG00000241258	ENSG00000241258			17888	protein-coding gene	gene with protein product	"calcitonin gene-related peptide-receptor component protein"	606121				8622957, 10067875, 12482973	Standard	NM_014478		Approved	CGRP-RCP, RCP, RCP9	uc011kdw.2	O75575	OTTHUMG00000129519	ENST00000395326.3:c.357C>T	7.37:g.65617254C>T			A8MUZ4|A8MW23|B2R4H4|B4E198|Q3KRA3|Q5HYF1|Q8IXL4	Silent	SNP	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	p.T119	ENST00000395326.3	37	c.357	CCDS5532.1	7																																																																																			CRCP	-	pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core	ENSG00000241258		0.507	CRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCP	HGNC	protein_coding	OTTHUMT00000251697.2	-	0	21	0	C	NM_014478		65617254	1	tier1	-	no_errors	ENST00000395326	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.001	T	T	65617254	C	T	65617254	2	4	100	1	0	0	0	0	0	0	0	1	3859	639	23	1		1	CRCP	7	65617254	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	753946	65617254	93521409	92	28400											
RUNDC3B	154661	genome.wustl.edu	37	chr7	87436700	87436700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcacaggactgtgctaaaGaataatgatttaagatcgag	16	11	9	5	1	1	3	1	1	0	2	2	5	1	4	0	1	1	1	0	1	5	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:87436700G>A	ENST00000338056.3	+	10	1431	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	RUNDC3B_ENST00000493037.1_Intron|RUNDC3B_ENST00000394654.3_Silent_p.K323K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	340										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTGTGCTAAAGAATAATGATT	0.433																																																	0													145	133	137					7																	87436700		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1020G>A	7.37:g.87436700G>A			B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.K340	ENST00000338056.3	37	c.1020	CCDS5609.1	7																																																																																			RUNDC3B	-	NULL	ENSG00000105784		0.433	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	-	0	50	0	G	NM_138290		87436700	1	tier1	-	no_errors	ENST00000338056	ensembl	human	known	74_37	silent	32.08	36	17	SNP	1.000	A	A	87436700	G	A	87436700	2	1	100	1	0	0	0	0	0	0	0	1	13790	933	33	3		3	RUNDC3B	7	87436700	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	21819446	87436700	71701963	93	28401											
CASD1	64921	genome.wustl.edu	37	chr7	94184821	94184821	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctatttatttgccagtaTcacatatggctggcagcgga	10	13	10	8	1	1	0	1	0	0	0	1	1	1	1	1	3	3	4	1	3	5	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:94184821T>A	ENST00000297273.4	+	18	2432	c.2145T>A	c.(2143-2145)taT>taA	p.Y715*		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	715						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTTGCCAGTATCACATATGGC	0.363																																																	0													45	43	44					7																	94184821		2203	4300	6503	SO:0001587	stop_gained	0			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"chromosome 7 open reading frame 12"	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2145T>A	7.37:g.94184821T>A	ENSP00000297273:p.Tyr715*		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Nonsense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.Y715*	ENST00000297273.4	37	c.2145	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	T	36	5.781204	0.96929	.	.	ENSG00000127995	ENST00000297273	.	.	.	5.33	-2.82	0.05787	.	0.118710	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4764	0.22039	0.1369:0.5029:0.0:0.3602	.	.	.	.	X	715	.	ENSP00000297273:Y715X	Y	+	3	2	CASD1	94022757	0.995000	0.38212	0.963000	0.40424	0.245000	0.25701	0.391000	0.20784	-0.294000	0.08973	-1.039000	0.02377	TAT	CASD1	-	NULL	ENSG00000127995		0.363	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	-	0	38	0	T	NM_022900		94184821	1	tier1	-	no_errors	ENST00000297273	ensembl	human	known	74_37	nonsense	36.23	44	25	SNP	0.995	A	A	94184821	T	A	94184821	4	1	100	1	0	0	0	0	0	1	0	0	2671	1442	50	5	2215	5	CASD1	7	94184821	Nonsense_Mutation	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09	6748121	94184821	64953842	94	28402											
TRRAP	8295	genome.wustl.edu	37	chr7	98509816	98509816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtctccctctttgcagctGaaaatgaacaaatgctgaag	12	11	8	10	0	2	3	0	3	2	0	3	3	2	3	1	0	4	3	1	0	5	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:98509816G>A	ENST00000359863.4	+	18	2388	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	TRRAP_ENST00000446306.3_Missense_Mutation_p.E726K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E727K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	727					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTTGCAGCTGAAAATGAACA	0.478																																																	0													148	131	137					7																	98509816		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2179G>A	7.37:g.98509816G>A	ENSP00000352925:p.Glu727Lys		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E727K	ENST00000359863.4	37	c.2179	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.630756	0.96682	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.68181	4.04;-0.31	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.998	T	0.80774	-0.1232	10	0.54805	T	0.06	.	19.7617	0.96321	0.0:0.0:1.0:0.0	.	727;441;727	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	K	727;727;725	ENSP00000352925:E727K;ENSP00000347733:E727K	ENSP00000347733:E727K	E	+	1	0	TRRAP	98347752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.671000	0.90904	0.655000	0.94253	GAA	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.478	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	74	0	G	NM_003496		98509816	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	34.52	55	29	SNP	1.000	A	A	98509816	G	A	98509816	3	1	100	1	0	0	0	0	1	0	0	0	16649	1291	45	3	2245	3	TRRAP	7	98509816	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	4324995	98509816	60628847	95	28403											
METTL2B	55798	genome.wustl.edu	37	chr7	128141942	128141942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggattcagtgcaaatactGcaagccccttctgtccagca	10	11	8	12	0	2	0	1	0	1	0	3	1	3	1	3	1	5	3	3	1	3	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:128141942G>T	ENST00000262432.8	+	9	1146	c.1109G>T	c.(1108-1110)tGc>tTc	p.C370F	METTL2B_ENST00000480046.1_Missense_Mutation_p.C305F	NM_018396.2	NP_060866.2	Q6P1Q9	MET2B_HUMAN	methyltransferase like 2B	370					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGCAAATACTGCAAGCCCCTT	0.502																																																	0													151	156	154					7																	128141942		2203	4300	6503	SO:0001583	missense	0			AK002212	CCDS5803.2	7q32.2	2012-06-12	2006-02-09	2006-02-09	ENSG00000165055	ENSG00000165055			18272	protein-coding gene	gene with protein product		607846	"methyltransferase like 2"	METTL2		11738826	Standard	NM_018396		Approved	METL, FLJ11350	uc003vnf.3	Q6P1Q9	OTTHUMG00000143738	ENST00000262432.8:c.1109G>T	7.37:g.128141942G>T	ENSP00000262432:p.Cys370Phe		B4DZ68|Q0IJ54|Q3B7J1	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase	p.C370F	ENST00000262432.8	37	c.1109	CCDS5803.2	7	.	.	.	.	.	.	.	.	.	.	G	11.72	1.724237	0.30593	.	.	ENSG00000165055	ENST00000262432;ENST00000480046	T;T	0.11063	2.81;2.81	3.44	3.44	0.39384	.	0.481200	0.23338	N	0.049267	T	0.06005	0.0156	N	0.11560	0.145	0.24214	N	0.995466	B;B	0.18968	0.032;0.019	B;B	0.20184	0.028;0.009	T	0.26710	-1.0095	10	0.87932	D	0	-3.8494	8.2244	0.31560	0.0:0.0:0.7618:0.2382	.	305;370	Q6P1Q9-2;Q6P1Q9	.;MTL2B_HUMAN	F	370;305	ENSP00000262432:C370F;ENSP00000418402:C305F	ENSP00000262432:C370F	C	+	2	0	METTL2B	127929178	1.000000	0.71417	0.946000	0.38457	0.849000	0.48306	3.169000	0.50809	1.903000	0.55091	0.195000	0.17529	TGC	METTL2B	-	pirsf_MeTrfase	ENSG00000165055		0.502	METTL2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2B	HGNC	protein_coding	OTTHUMT00000289817.1	-	0	55	0	G	NM_018396		128141942	1	tier1	-	no_errors	ENST00000262432	ensembl	human	known	74_37	missense	8.16	44	4	SNP	0.943	T	T	128141942	G	T	128141942	3	4	100	1	0	0	0	0	1	0	0	0	9538	1319	46	3	1143	3	METTL2B	7	128141942	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	29632126	128141942	30996721	96	28404											
WDR91	29062	genome.wustl.edu	37	chr7	134878362	134878362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgttgatattgatttcacaGagattcttcttggcttccgt	7	18	8	8	2	3	3	1	2	2	1	5	4	4	3	1	1	0	2	1	1	1	8			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:134878362G>A	ENST00000354475.4	-	10	1489	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Silent_p.L451L|WDR91_ENST00000344400.5_Silent_p.L486L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	486										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGATTTCACAGAGATTCTTCT	0.567																																																	0													116	92	100					7																	134878362		2203	4300	6503	SO:0001819	synonymous_variant	0			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"WD repeat domain containing"	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1458C>T	7.37:g.134878362G>A			A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L486	ENST00000354475.4	37	c.1458	CCDS34758.1	7																																																																																			WDR91	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000105875		0.567	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1	-	0	81	0	G	NM_014149		134878362	-1	tier1	-	no_errors	ENST00000354475	ensembl	human	known	74_37	silent	22.58	72	21	SNP	1.000	A	A	134878362	G	A	134878362	2	1	100	1	0	0	0	0	0	0	0	1	17387	929	33	3		3	WDR91	7	134878362	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	6736420	134878362	24260301	97	28405											
CREB3L2	64764	genome.wustl.edu	37	chr7	137686398	137686398	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggctctgacagctcgctCagcttgcggtcccactgcag	5	8	12	16	3	2	1	1	1	1	0	4	1	3	1	2	2	4	5	2	2	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:137686398C>T	ENST00000330387.6	-	1	405	c.54G>A	c.(52-54)ctG>ctA	p.L18L	CREB3L2_ENST00000456390.1_Silent_p.L18L|CREB3L2_ENST00000468127.1_5'UTR|CREB3L2_ENST00000452463.1_Silent_p.L18L	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	18					cartilage development (GO:0051216)|chondrocyte differentiation (GO:0002062)|ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of transcription, DNA-templated (GO:0045893)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cAMP response element binding (GO:0035497)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ACAGCTCGCTCAGCTTGCGGT	0.701			T	FUS	fibromyxoid sarcoma																																			Dom	yes		7	7q34	64764	cAMP responsive element binding protein 3-like 2		M	0													34	35	35					7																	137686398		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ549092	CCDS34760.1, CCDS59083.1	7q34	2013-01-10			ENSG00000182158	ENSG00000182158		"basic leucine zipper proteins"	23720	protein-coding gene	gene with protein product		608834					Standard	NM_194071		Approved	BBF2H7, TCAG_1951439	uc003vtw.3	Q70SY1	OTTHUMG00000155744	ENST00000330387.6:c.54G>A	7.37:g.137686398C>T			Q6P454|Q6ZMR6	Silent	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L18	ENST00000330387.6	37	c.54	CCDS34760.1	7																																																																																			CREB3L2	-	NULL	ENSG00000182158		0.701	CREB3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3L2	HGNC	protein_coding	OTTHUMT00000341462.1	-	0	66	0	C	NM_194071		137686398	-1	tier1	-	no_errors	ENST00000330387	ensembl	human	known	74_37	silent	25.37	50	17	SNP	1.000	T	T	137686398	C	T	137686398	2	4	100	1	0	0	0	0	0	0	0	1	3864	813	29	3		3	CREB3L2	7	137686398	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2808036	137686398	21452265	98	28406											
DENND2A	27147	genome.wustl.edu	37	chr7	140269453	140269453	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggggttctaccttttcctGagttgctctccattgactgg	4	16	11	10	0	2	2	0	2	2	0	4	2	3	2	3	3	2	3	3	3	1	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:140269453G>C	ENST00000275884.6	-	6	1949	c.1532C>G	c.(1531-1533)tCa>tGa	p.S511*	DENND2A_ENST00000496613.1_Nonsense_Mutation_p.S511*|DENND2A_ENST00000492720.1_Nonsense_Mutation_p.S511*|DENND2A_ENST00000537639.1_Nonsense_Mutation_p.S511*			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	511					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACCTTTTCCTGAGTTGCTCTC	0.527																																																	0													149	151	151					7																	140269453		1915	4119	6034	SO:0001587	stop_gained	0			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"DENN/MADD domain containing"	22212	protein-coding gene	gene with protein product			"KIAA1277"	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1532C>G	7.37:g.140269453G>C	ENSP00000275884:p.Ser511*		C9JUI3|Q1RMD5|Q86XY0	Nonsense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S511*	ENST00000275884.6	37	c.1532	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	G	39	7.624371	0.98396	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	.	.	.	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-9.465	18.0603	0.89374	0.0:0.0:1.0:0.0	.	.	.	.	X	511	.	ENSP00000275884:S511X	S	-	2	0	DENND2A	139915922	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.013000	0.93629	2.255000	0.74692	0.462000	0.41574	TCA	DENND2A	-	NULL	ENSG00000146966		0.527	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	-	0	57	0	G	NM_015689		140269453	-1	tier1	-	no_errors	ENST00000275884	ensembl	human	known	74_37	nonsense	31.34	46	21	SNP	1.000	C	C	140269453	G	C	140269453	4	2	100	1	0	0	0	0	0	1	0	0	4443	1294	45	5	1553	5	DENND2A	7	140269453	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2583055	140269453	18869210	99	28407											
ADCK2	90956	genome.wustl.edu	37	chr7	140378976	140378976	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacctgcgttacgaagctCagaatctagaacacttccag	12	10	8	11	2	2	3	1	1	1	2	3	4	3	3	2	0	4	2	2	0	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:140378976C>T	ENST00000072869.4	+	3	1280	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	ADCK2_ENST00000476491.1_Nonsense_Mutation_p.Q368*	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	368	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TTACGAAGCTCAGAATCTAGA	0.512																																																	0													150	131	138					7																	140378976		2203	4300	6503	SO:0001587	stop_gained	0			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1102C>T	7.37:g.140378976C>T	ENSP00000072869:p.Gln368*		Q96CN6|Q9Y6T5	Nonsense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.Q368*	ENST00000072869.4	37	c.1102	CCDS5861.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.053181|6.053181	0.97241|0.97241	.|.	.|.	ENSG00000133597|ENSG00000133597	ENST00000072869;ENST00000476491;ENST00000473512|ENST00000483369	.|.	.|.	.|.	5.14|5.14	4.25|4.25	0.50352|0.50352	.|.	0.652897|.	0.14316|.	N|.	0.327330|.	.|T	.|0.62356	.|0.2421	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70156	.|-0.4949	.|3	0.05959|.	T|.	0.93|.	-30.4727|-30.4727	13.0972|13.0972	0.59200|0.59200	0.3489:0.6511:0.0:0.0|0.3489:0.6511:0.0:0.0	.|.	.|.	.|.	.|.	X|L	368;368;8|205	.|.	ENSP00000072869:Q368X|.	Q|S	+|+	1|2	0|0	ADCK2|ADCK2	140025445|140025445	0.935000|0.935000	0.31712|0.31712	0.990000|0.990000	0.47175|0.47175	0.862000|0.862000	0.49288|0.49288	1.677000|1.677000	0.37576|0.37576	1.382000|1.382000	0.46385|0.46385	0.484000|0.484000	0.47621|0.47621	CAG|TCA	ADCK2	-	pfam_UbiB_dom,superfamily_Kinase-like_dom	ENSG00000133597		0.512	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	-	0	95	0	C	NM_052853		140378976	1	tier1	-	no_errors	ENST00000072869	ensembl	human	known	74_37	nonsense	32.00	68	32	SNP	0.998	T	T	140378976	C	T	140378976	4	4	100	1	0	0	0	0	0	1	0	0	289	827	29	3	1112	3	ADCK2	7	140378976	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	109523	140378976	18759687	100	28408											
TRPV5	56302	genome.wustl.edu	37	chr7	142612479	142612479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgaggggatactcacatGatgacatggaatggcccccc	12	7	12	10	0	1	3	1	3	0	0	1	6	1	5	3	4	1	0	3	4	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr7:142612479G>A	ENST00000265310.1	-	10	1632	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	428					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ATACTCACATGATGACATGGA	0.512																																																	0													146	142	143					7																	142612479		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"Voltage-gated ion channels / Transient receptor potential cation channels", "Ankyrin repeat domain containing"	3145	protein-coding gene	gene with protein product		606679	"epithelial calcium channel 1"	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1284C>T	7.37:g.142612479G>A			A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.I428	ENST00000265310.1	37	c.1284	CCDS5875.1	7																																																																																			TRPV5	-	prints_TRPV5/TRPV6,tigrfam_TRP_channel	ENSG00000127412		0.512	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV5	HGNC	protein_coding	OTTHUMT00000347660.1	-	0	40	0	G	NM_019841		142612479	-1	tier1	-	no_errors	ENST00000265310	ensembl	human	known	74_37	silent	42.86	16	12	SNP	1.000	A	A	142612479	G	A	142612479	2	1	100	1	0	0	0	0	0	0	0	1	16647	1280	45	3		3	TRPV5	7	142612479	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2233503	142612479	16526184	101	28409											
CSMD1	64478	genome.wustl.edu	37	chr8	3015448	3015448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagacggatagttccaaCggcgaacggtccctggcata	10	6	15	10	4	0	1	0	0	0	1	2	4	2	2	2	6	2	2	2	6	4	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:3015448C>T	ENST00000520002.1	-	40	6443	c.5888G>A	c.(5887-5889)cGt>cAt	p.R1963H	CSMD1_ENST00000400186.3_Missense_Mutation_p.R1963H|CSMD1_ENST00000539096.1_Missense_Mutation_p.R1962H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R1962H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R1962H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R1963H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R1963H|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1963	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATAGTTCCAACGGCGAACGGT	0.453																																																	0													55	53	54					8																	3015448		1959	4100	6059	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5888G>A	8.37:g.3015448C>T	ENSP00000430733:p.Arg1963His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R1963H	ENST00000520002.1	37	c.5888		8	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829321	0.71258	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.75451	0.3851	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.998	T	0.77051	-0.2731	10	0.72032	D	0.01	.	18.8862	0.92379	0.0:1.0:0.0:0.0	.	1963;1963;1962;1963	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	H	1963;1963;1824;1962;1962;1962	ENSP00000383047:R1963H;ENSP00000430733:R1963H;ENSP00000441462:R1962H;ENSP00000446243:R1962H;ENSP00000441675:R1962H	ENSP00000320445:R1824H	R	-	2	0	CSMD1	3002855	1.000000	0.71417	0.266000	0.24541	0.030000	0.12068	7.311000	0.78958	2.538000	0.85594	0.655000	0.94253	CGT	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.453	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0	31	0	C	NM_033225		3015448	-1			no_errors	ENST00000520002	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.999	T	T	3015448	C	T	3015448	3	4	100	1	0	0	0	0	1	0	0	0	3953	536	19	1	4937	1	CSMD1	8	3015448	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09		3015448	143348574	102	28410											
MCPH1	79648	genome.wustl.edu	37	chr8	6289088	6289088	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatatgaatgaacacttatCaagcctaattaaaaaaaaag	22	10	4	5	0	1	2	1	2	0	0	1	2	1	2	1	0	2	0	1	0	12	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:6289088C>G	ENST00000344683.5	+	4	378	c.302C>G	c.(301-303)tCa>tGa	p.S101*	MCPH1_ENST00000519480.1_Nonsense_Mutation_p.S101*|MCPH1_ENST00000522905.1_Nonsense_Mutation_p.S101*	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	101					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAACACTTATCAAGCCTAATT	0.289																																					Colon(95;1448 1467 8277 34473 35819)												0													102	99	100					8																	6289088		1819	4084	5903	SO:0001587	stop_gained	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"BRCT-repeat inhibitor of TERT expression 1"	607117	"microcephaly, primary autosomal recessive 1"			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.302C>G	8.37:g.6289088C>G	ENSP00000342924:p.Ser101*		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Nonsense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.S101*	ENST00000344683.5	37	c.302	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099434	0.76983	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	.	.	.	5.23	5.23	0.72850	.	0.282774	0.33691	N	0.004641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.5517	16.6455	0.85176	0.0:1.0:0.0:0.0	.	.	.	.	X	101	.	ENSP00000342924:S101X	S	+	2	0	MCPH1	6276496	0.003000	0.15002	0.009000	0.14445	0.022000	0.10575	1.578000	0.36525	2.600000	0.87896	0.655000	0.94253	TCA	MCPH1	-	NULL	ENSG00000147316		0.289	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2		0	13	0	C	NM_024596		6289088	1			no_errors	ENST00000344683	ensembl	human	known	74_37	nonsense	58.33	5	7	SNP	0.032	G	G	6289088	C	G	6289088	4	3	100	1	0	0	0	0	0	1	0	0	9436	838	29	5	316	5	MCPH1	8	6289088	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	3273640	6289088	140074934	103	28411											
SLC18A1	6570	genome.wustl.edu	37	chr8	20036783	20036783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagatggcttcagtggctgGaggtgggatggtgctggcag	6	10	20	5	0	1	1	1	1	0	1	1	4	1	3	0	7	1	4	0	7	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:20036783G>T	ENST00000276373.5	-	3	603	c.337C>A	c.(337-339)Cca>Aca	p.P113T	SLC18A1_ENST00000440926.1_Missense_Mutation_p.P113T|SLC18A1_ENST00000437980.1_Missense_Mutation_p.P113T|SLC18A1_ENST00000519026.1_Missense_Mutation_p.P113T|SLC18A1_ENST00000381608.4_Missense_Mutation_p.P113T|SLC18A1_ENST00000265808.7_Missense_Mutation_p.P113T	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	113					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	TCAGTGGCTGGAGGTGGGATG	0.493																																																	0													150	113	125					8																	20036783		2203	4300	6503	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.337C>A	8.37:g.20036783G>T	ENSP00000276373:p.Pro113Thr		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.P113T	ENST00000276373.5	37	c.337	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	G	8.170	0.791509	0.16258	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04360	3.93;3.95;3.95;3.93;3.93;3.93;3.64	5.95	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.414501	0.27092	N	0.020970	T	0.03178	0.0093	N	0.11201	0.11	0.20196	N	0.99992	B;B;B	0.29136	0.001;0.234;0.155	B;B;B	0.33254	0.01;0.119;0.16	T	0.48163	-0.9059	10	0.15066	T	0.55	-0.391	10.1203	0.42616	0.0:0.149:0.6964:0.1547	.	113;113;113	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	T	113	ENSP00000265808:P113T;ENSP00000276373:P113T;ENSP00000387549:P113T;ENSP00000413361:P113T;ENSP00000429664:P113T;ENSP00000371021:P113T;ENSP00000428999:P113T	ENSP00000265808:P113T	P	-	1	0	SLC18A1	20081063	0.737000	0.28175	0.669000	0.29828	0.009000	0.06853	1.961000	0.40432	1.524000	0.49035	-0.150000	0.13652	CCA	SLC18A1	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.493	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1	-	0	87	0	G			20036783	-1	tier1	-	no_errors	ENST00000276373	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.188	T	T	20036783	G	T	20036783	3	4	100	1	0	0	0	0	1	0	0	0	14470	1174	41	3	1296	3	SLC18A1	8	20036783	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	13747695	20036783	126327239	104	28412											
NSMAF	8439	genome.wustl.edu	37	chr8	59515783	59515783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttacctagttctgagctgGaataatcatgtattatccat	12	15	7	7	0	2	1	1	1	1	0	3	2	3	2	2	1	2	4	2	1	6	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:59515783G>A	ENST00000038176.3	-	13	1243	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	NSMAF_ENST00000427130.2_Missense_Mutation_p.S375F|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	344	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTCTGAGCTGGAATAATCATG	0.443																																																	0													156	150	152					8																	59515783		2203	4300	6503	SO:0001583	missense	0			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"WD repeat domain containing"	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1031C>T	8.37:g.59515783G>A	ENSP00000038176:p.Ser344Phe		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S375F	ENST00000038176.3	37	c.1124	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750099	0.49257	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.80909	-1.43;-1.43	5.93	-3.86	0.04230	BEACH domain (4);	1.057390	0.07159	N	0.850319	T	0.74129	0.3676	M	0.76170	2.325	0.21579	N	0.999632	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.11329	0.004;0.006;0.006	T	0.58364	-0.7649	9	.	.	.	.	3.649	0.08196	0.1648:0.1356:0.4952:0.2044	.	375;344;344	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	F	344;375	ENSP00000038176:S344F;ENSP00000411012:S375F	.	S	-	2	0	NSMAF	59678337	0.751000	0.28327	0.006000	0.13384	0.839000	0.47603	0.009000	0.13219	-0.330000	0.08514	0.655000	0.94253	TCC	NSMAF	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000035681		0.443	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	-	0	45	0	G	NM_003580		59515783	-1	tier1	-	no_errors	ENST00000427130	ensembl	human	known	74_37	missense	33.33	34	17	SNP	0.013	A	A	59515783	G	A	59515783	3	1	100	1	0	0	0	0	1	0	0	0	10713	1174	41	3	1798	3	NSMAF	8	59515783	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	39479000	59515783	86848239	105	28413											
E2F5	1875	genome.wustl.edu	37	chr8	86118428	86118428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacattttcctatgtaactCatgaagacatctgtaattgc	12	15	6	8	0	2	2	1	1	1	1	3	2	3	2	1	0	3	3	1	0	5	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:86118428C>T	ENST00000416274.2	+	4	557	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	E2F5_ENST00000256117.5_Missense_Mutation_p.H176Y|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.H175Y|E2F5_ENST00000517476.1_Missense_Mutation_p.H14Y	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	175	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						CTATGTAACTCATGAAGACAT	0.353																																																	0													172	171	171					8																	86118428		1867	4117	5984	SO:0001583	missense	0			X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.523C>T	8.37:g.86118428C>T	ENSP00000398124:p.His175Tyr		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	pfam_E2F_TDP	p.H176Y	ENST00000416274.2	37	c.526	CCDS47885.1	8	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034889	0.54896	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000518234	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	6.07	5.19	0.71726	.	0.047188	0.85682	N	0.000000	T	0.75496	0.3857	L	0.28400	0.85	0.80722	D	1	B;B	0.27140	0.169;0.093	B;B	0.27796	0.083;0.068	T	0.71130	-0.4682	10	0.30854	T	0.27	-17.7741	15.6787	0.77349	0.0:0.9344:0.0:0.0656	.	175;175	Q15329-2;Q15329	.;E2F5_HUMAN	Y	175;176;175;14;11	ENSP00000414312:H175Y;ENSP00000256117:H176Y;ENSP00000398124:H175Y;ENSP00000429120:H14Y;ENSP00000429669:H11Y	ENSP00000256117:H176Y	H	+	1	0	E2F5	86305680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.818000	0.62657	1.577000	0.49804	0.655000	0.94253	CAT	E2F5	-	NULL	ENSG00000133740		0.353	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	E2F5	HGNC	protein_coding	OTTHUMT00000380274.1	-	0	58	0	C	NM_001951		86118428	1	tier1	-	no_errors	ENST00000256117	ensembl	human	known	74_37	missense	17.50	33	7	SNP	1.000	T	T	86118428	C	T	86118428	3	4	100	1	0	0	0	0	1	0	0	0	4884	826	29	3	537	3	E2F5	8	86118428	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	26602645	86118428	60245594	106	28414											
SLC7A13	157724	genome.wustl.edu	37	chr8	87229753	87229753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccgccttagtattcctatCattaataatatagaccataa	14	14	3	10	1	1	1	1	0	0	1	3	1	3	1	4	0	0	1	4	0	8	9			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:87229753C>T	ENST00000297524.3	-	3	1228	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Missense_Mutation_p.M366I	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	375						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTATTCCTATCATTAATAATA	0.303																																																	0													30	35	34					8																	87229753		2195	4291	6486	SO:0001583	missense	0			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1125G>A	8.37:g.87229753C>T	ENSP00000297524:p.Met375Ile		Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.M375I	ENST00000297524.3	37	c.1125	CCDS34917.1	8	.	.	.	.	.	.	.	.	.	.	C	0.788	-0.759860	0.03019	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89270	-2.49;-2.49	5.03	-0.497	0.12023	.	1.034570	0.07624	N	0.927552	T	0.68933	0.3055	N	0.03917	-0.325	0.09310	N	1	B;B	0.22080	0.012;0.064	B;B	0.19391	0.01;0.025	T	0.59836	-0.7379	10	0.02654	T	1	.	5.1423	0.14965	0.1342:0.4246:0.0:0.4413	.	366;375	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	I	375;366	ENSP00000297524:M375I;ENSP00000410982:M366I	ENSP00000297524:M375I	M	-	3	0	SLC7A13	87298869	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.260000	0.08708	-0.204000	0.10235	-0.145000	0.13849	ATG	SLC7A13	-	pirsf_AA/rel_permease1	ENSG00000164893		0.303	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A13	HGNC	protein_coding	OTTHUMT00000374704.1	-	0	53	0	C	NM_138817		87229753	-1	tier1	-	no_errors	ENST00000297524	ensembl	human	known	74_37	missense	43.33	17	13	SNP	0.000	T	T	87229753	C	T	87229753	3	4	100	1	0	0	0	0	1	0	0	0	14740	826	29	3	295	3	SLC7A13	8	87229753	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1111325	87229753	59134269	107	28415											
DCAF4L2	138009	genome.wustl.edu	37	chr8	88886083	88886083	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctatacggcaatagttggcGaatctgaggaaacctagctg	12	9	12	8	2	1	1	0	1	1	0	1	3	1	2	1	3	3	4	1	3	7	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522																																																	2	Substitution - coding silent(2)	large_intestine(2)											90	81	84					8																	88886083		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"WD repeat domain containing"	26657	protein-coding gene	gene with protein product			"WD repeat domain 21C"	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.117C>T	8.37:g.88886083G>A				Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F39	ENST00000319675.3	37	c.117	CCDS6245.1	8																																																																																			DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	-	0	107	0	G	NM_152418		88886083	-1	tier1	-	no_errors	ENST00000319675	ensembl	human	known	74_37	silent	34.78	75	40	SNP	0.000	A	A	88886083	G	A	88886083	2	1	100	1	0	0	0	0	0	0	0	1	4281	1049	37	1		1	DCAF4L2	8	88886083	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1656330	88886083	57477939	108	28416											
MATN2	4147	genome.wustl.edu	37	chr8	99033468	99033468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcaacccaccatggctgcGaacacatttgtgttaataat	14	11	6	10	1	1	0	1	0	0	0	1	1	1	0	2	1	3	2	2	1	5	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:99033468G>A	ENST00000520016.1	+	12	1979	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	MATN2_ENST00000521689.1_Missense_Mutation_p.E619K|MATN2_ENST00000522025.2_Missense_Mutation_p.E335K|MATN2_ENST00000524308.1_Missense_Mutation_p.E578K|MATN2_ENST00000254898.5_Missense_Mutation_p.E619K			O00339	MATN2_HUMAN	matrilin 2	619	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E619K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCATGGCTGCGAACACATTTG	0.433																																																	2	Substitution - Missense(2)	large_intestine(2)											117	112	114					8																	99033468		1899	4120	6019	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1855G>A	8.37:g.99033468G>A	ENSP00000430487:p.Glu619Lys		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.E619K	ENST00000520016.1	37	c.1855	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.803944|3.803944	0.70682|0.70682	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016|ENST00000518154	D;D;D;D;D|.	0.96830|.	-4.14;-4.14;-4.14;-4.14;-4.14|.	5.7|5.7	5.7|5.7	0.88788|0.88788	Epidermal growth factor-like (1);|.	0.000000|.	0.64402|.	D|.	0.000009|.	T|T	0.79511|0.79511	0.4458|0.4458	M|M	0.82630|0.82630	2.6|2.6	0.54753|0.54753	D|D	0.999989|0.999989	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.83275|.	0.991;0.994;0.996;0.994|.	T|T	0.80301|0.80301	-0.1440|-0.1440	10|5	0.72032|.	D|.	0.01|.	-26.7817|-26.7817	18.0216|18.0216	0.89257|0.89257	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	578;619;619;619|.	C9JH87;E9PF03;O00339-2;O00339|.	.;.;.;MATN2_HUMAN|.	K|Q	619;619;578;578;335;619|401	ENSP00000429977:E619K;ENSP00000254898:E619K;ENSP00000430221:E578K;ENSP00000429010:E335K;ENSP00000430487:E619K|.	ENSP00000254898:E619K|.	E|R	+|+	1|2	0|0	MATN2|MATN2	99102644|99102644	1.000000|1.000000	0.71417|0.71417	0.131000|0.131000	0.22000|0.22000	0.026000|0.026000	0.11368|0.11368	4.443000|4.443000	0.59994|0.59994	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GAA|CGA	MATN2	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000132561		0.433	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	-	0	48	0	G			99033468	1	tier1	-	no_errors	ENST00000254898	ensembl	human	known	74_37	missense	27.91	31	12	SNP	1.000	A	A	99033468	G	A	99033468	3	1	100	1	0	0	0	0	1	0	0	0	9372	1059	37	1	1901	1	MATN2	8	99033468	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	10147385	99033468	47330554	109	28417											
OXR1	55074	genome.wustl.edu	37	chr8	107758054	107758054	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataatatgttttttatcaAaggagacatggattcactag	15	14	8	4	0	2	2	2	0	0	2	2	4	2	3	0	2	0	1	0	2	5	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:107758054A>G	ENST00000442977.2	+	15	2552	c.2453A>G	c.(2452-2454)aAa>aGa	p.K818R	OXR1_ENST00000517566.2_Missense_Mutation_p.K817R|OXR1_ENST00000449762.2_Missense_Mutation_p.K160R|OXR1_ENST00000445937.1_Missense_Mutation_p.K790R|OXR1_ENST00000312046.6_Missense_Mutation_p.K783R|OXR1_ENST00000452423.2_Missense_Mutation_p.K238R|OXR1_ENST00000531443.1_Missense_Mutation_p.K790R|OXR1_ENST00000521592.1_Missense_Mutation_p.K63R|OXR1_ENST00000297447.6_Missense_Mutation_p.K187R	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	818	TLD.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTTTTTATCAAAGGAGACATG	0.294																																																	0													78	82	81					8																	107758054		2203	4299	6502	SO:0001583	missense	0			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 3"	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2453A>G	8.37:g.107758054A>G	ENSP00000405424:p.Lys818Arg		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc	p.K818R	ENST00000442977.2	37	c.2453	CCDS56548.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.3|28.3	4.904171|4.904171	0.92035|0.92035	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000519415|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046;ENST00000449762;ENST00000297447;ENST00000521592	T|T;T;T;T;T;T;T;T;T	0.41758|0.42131	0.99|0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.62|5.62	5.62|5.62	0.85841|0.85841	.|TLDc (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56046|0.56046	0.1959|0.1959	L|L	0.45422|0.45422	1.42|1.42	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;1.0;0.998;1.0	.|D;D;D;D;D;D	.|0.97110	.|0.999;1.0;0.995;0.999;0.996;0.999	T|T	0.50162|0.50162	-0.8860|-0.8860	8|10	0.72032|0.26408	D|T	0.01|0.33	-26.143|-26.143	15.8264|15.8264	0.78709|0.78709	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|783;818;817;160;187;790	.|Q8N573-2;Q8N573;D3HIS6;B7Z8N5;Q8N573-4;Q8N573-5	.|.;OXR1_HUMAN;.;.;.;.	E|R	462|790;790;817;238;818;783;160;187;63	ENSP00000430701:K462E|ENSP00000402918:K790R;ENSP00000431966:K790R;ENSP00000429205:K817R;ENSP00000395032:K238R;ENSP00000405424:K818R;ENSP00000311026:K783R;ENSP00000408659:K160R;ENSP00000297447:K187R;ENSP00000435104:K63R	ENSP00000430701:K462E|ENSP00000297447:K187R	K|K	+|+	1|2	0|0	OXR1|OXR1	107827230|107827230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.315000|9.315000	0.96313|0.96313	2.135000|2.135000	0.66039|0.66039	0.533000|0.533000	0.62120|0.62120	AAG|AAA	OXR1	-	pfam_TLDc,smart_TLDc	ENSG00000164830		0.294	OXR1-201	KNOWN	basic|CCDS	protein_coding	OXR1	HGNC	protein_coding		-	0	81	0	A	NM_181354		107758054	1	tier1	-	no_errors	ENST00000442977	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	G	G	107758054	A	G	107758054	3	3	100	1	0	0	0	0	1	0	0	0	11373	14	1	4	2626	4	OXR1	8	107758054	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	8724586	107758054	38605968	110	28418											
HAS2	3037	genome.wustl.edu	37	chr8	122626754	122626754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcaaaagatgattttatGagacctactagctggacagt	13	11	10	7	0	0	3	0	2	0	2	0	5	0	4	1	2	2	2	1	2	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:122626754G>A	ENST00000303924.4	-	4	1791	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	418					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGATTTTATGAGACCTACTA	0.418																																																	0													146	141	142					8																	122626754		2203	4300	6503	SO:0001819	synonymous_variant	0			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1254C>T	8.37:g.122626754G>A			Q32MM3	Silent	SNP	pfam_Chitin_synth_fng	p.L418	ENST00000303924.4	37	c.1254	CCDS6335.1	8																																																																																			HAS2	-	NULL	ENSG00000170961		0.418	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	-	0	21	0	G	NM_005328		122626754	-1	tier1	-	no_errors	ENST00000303924	ensembl	human	known	74_37	silent	20.00	24	6	SNP	1.000	A	A	122626754	G	A	122626754	2	1	100	1	0	0	0	0	0	0	0	1	6989	1277	45	3		3	HAS2	8	122626754	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	14868700	122626754	23737268	111	28419											
HAS2	3037	genome.wustl.edu	37	chr8	122626768	122626768	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttatgagacctactagctGgacagttaacaagaagagga	15	10	10	6	0	0	3	0	1	0	3	0	6	0	5	1	2	3	2	1	2	6	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:122626768G>A	ENST00000303924.4	-	4	1777	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	414					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CCTACTAGCTGGACAGTTAAC	0.403																																																	0													143	138	140					8																	122626768		2203	4300	6503	SO:0001587	stop_gained	0			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"Glycosyltransferase family 2 domain containing"	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1240C>T	8.37:g.122626768G>A	ENSP00000306991:p.Gln414*		Q32MM3	Nonsense_Mutation	SNP	pfam_Chitin_synth_fng	p.Q414*	ENST00000303924.4	37	c.1240	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	G	42	9.239819	0.99110	.	.	ENSG00000170961	ENST00000303924	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-6.4373	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	414	.	ENSP00000306991:Q414X	Q	-	1	0	HAS2	122695949	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.990000	0.88215	2.873000	0.98535	0.561000	0.74099	CAG	HAS2	-	NULL	ENSG00000170961		0.403	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	-	0	24	0	G	NM_005328		122626768	-1	tier1	-	no_errors	ENST00000303924	ensembl	human	known	74_37	nonsense	26.67	22	8	SNP	1.000	A	A	122626768	G	A	122626768	4	1	100	1	0	0	0	0	0	1	0	0	6989	1357	47	3	422	3	HAS2	8	122626768	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	14	122626768	23737254	112	28420											
FER1L6	654463	genome.wustl.edu	37	chr8	125033904	125033904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaatccgctttcttgttGatgaggtaactgactctaaa	14	13	7	7	1	2	3	0	3	2	0	3	3	3	3	1	1	1	3	1	1	6	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:125033904G>A	ENST00000522917.1	+	17	2334	c.2128G>A	c.(2128-2130)Gat>Aat	p.D710N	FER1L6_ENST00000399018.1_Missense_Mutation_p.D710N|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	710						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTTCTTGTTGATGAGGTAAC	0.413																																																	0													82	78	79					8																	125033904		1878	4107	5985	SO:0001583	missense	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"fer-1-like 6 (C. elegans)"				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2128G>A	8.37:g.125033904G>A	ENSP00000428280:p.Asp710Asn			Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.D710N	ENST00000522917.1	37	c.2128	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	24.9	4.582689	0.86748	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.81579	-1.51;-1.51	5.77	5.77	0.91146	.	0.316602	0.26485	U	0.024101	D	0.88518	0.6458	M	0.77820	2.39	0.54753	D	0.999981	D	0.71674	0.998	P	0.61722	0.893	D	0.85941	0.1458	10	0.27785	T	0.31	.	18.7507	0.91814	0.0:0.0:1.0:0.0	.	710	Q2WGJ9	FR1L6_HUMAN	N	710	ENSP00000428280:D710N;ENSP00000381982:D710N	ENSP00000381982:D710N	D	+	1	0	FER1L6	125103085	1.000000	0.71417	0.997000	0.53966	0.564000	0.35744	8.011000	0.88624	2.727000	0.93392	0.591000	0.81541	GAT	FER1L6	-	NULL	ENSG00000214814		0.413	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	-	0	31	0	G	NM_001039112		125033904	1	tier1	-	no_errors	ENST00000399018	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	A	A	125033904	G	A	125033904	3	1	100	1	0	0	0	0	1	0	0	0	5837	1290	45	3	2190	3	FER1L6	8	125033904	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2407136	125033904	21330118	113	28421											
KCNQ3	3786	genome.wustl.edu	37	chr8	133187730	133187730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagggcatctgcataggtCtcaaactcctctttcatctc	9	12	6	14	0	5	0	2	0	4	0	8	0	6	0	1	2	2	2	1	2	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:133187730C>G	ENST00000388996.4	-	5	1323	c.903G>C	c.(901-903)gaG>gaC	p.E301D	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E301D|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E181D	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	301					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	CTGCATAGGTCTCAAACTCCT	0.507																																																	0													177	156	163					8																	133187730		2203	4300	6503	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.903G>C	8.37:g.133187730C>G	ENSP00000373648:p.Glu301Asp		A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E301D	ENST00000388996.4	37	c.903	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	8.246	0.807892	0.16467	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.97303	-4.33;-4.33;-4.33	5.51	2.72	0.32119	Ion transport (1);	0.050828	0.85682	D	0.000000	D	0.90469	0.7015	N	0.17278	0.47	0.39635	D	0.970238	B;B	0.14805	0.011;0.011	B;B	0.19946	0.027;0.027	T	0.81245	-0.1020	10	0.08381	T	0.77	-29.1908	7.3143	0.26491	0.0:0.6666:0.1231:0.2103	.	301;301	E7ET42;O43525	.;KCNQ3_HUMAN	D	301;181;301;290;180	ENSP00000373648:E301D;ENSP00000429799:E181D;ENSP00000428790:E301D	ENSP00000373648:E301D	E	-	3	2	KCNQ3	133256912	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.839000	0.27586	0.367000	0.24454	0.655000	0.94253	GAG	KCNQ3	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000184156		0.507	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	69	0	C	NM_004519		133187730	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	missense	24.68	58	19	SNP	0.999	G	G	133187730	C	G	133187730	3	3	100	1	0	0	0	0	1	0	0	0	8111	912	32	5	1759	5	KCNQ3	8	133187730	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	8153826	133187730	13176292	114	28422											
COL22A1	169044	genome.wustl.edu	37	chr8	139603732	139603732	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcacctgggtcacctttgGctcctcgctcacctgggaag	5	10	12	14	1	2	0	2	0	0	0	4	1	3	1	4	3	1	3	4	3	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:139603732G>C	ENST00000303045.6	-	64	5074	c.4628C>G	c.(4627-4629)gCc>gGc	p.A1543G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.A1523G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1543	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCACCTTTGGCTCCTCGCTC	0.607										HNSCC(7;0.00092)																																							0													62	57	59					8																	139603732		2203	4300	6503	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4628C>G	8.37:g.139603732G>C	ENSP00000303153:p.Ala1543Gly		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.A1543G	ENST00000303045.6	37	c.4628	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	12.57	1.979055	0.34942	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94376	-3.41;-3.41	5.3	3.51	0.40186	.	0.288557	0.23898	U	0.043478	D	0.88702	0.6508	L	0.31578	0.945	0.29712	N	0.839286	B;B	0.28820	0.224;0.051	B;B	0.38428	0.273;0.033	T	0.80993	-0.1134	10	0.23891	T	0.37	.	8.2266	0.31572	0.2389:0.0:0.7611:0.0	.	1523;1543	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	G	1543;1523;1236	ENSP00000303153:A1543G;ENSP00000387655:A1523G	ENSP00000303153:A1543G	A	-	2	0	COL22A1	139672914	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	2.258000	0.43249	0.815000	0.34398	-0.253000	0.11424	GCC	COL22A1	-	pfam_Collagen	ENSG00000169436		0.607	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	-	0	40	0	G	XM_291257		139603732	-1	tier1	-	no_errors	ENST00000303045	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	C	C	139603732	G	C	139603732	3	2	100	1	0	0	0	0	1	0	0	0	3688	1203	42	5	260	5	COL22A1	8	139603732	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	6416002	139603732	6760290	115	28423											
COL22A1	169044	genome.wustl.edu	37	chr8	139737649	139737649	+	Frame_Shift_Del	DEL	G	G	-																															ccggagaacctcccggtccaGgggggcctgggacaccaggg																										TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:139737649delG	ENST00000303045.6	-	24	2620	c.2174delC	c.(2173-2175)cctfs	p.P725fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.P725fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	725	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCGGTCCAGGGGGGCCTGG	0.582										HNSCC(7;0.00092)																																							0													55	63	60					8																	139737649		2203	4300	6503	SO:0001589	frameshift_variant	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2174delC	8.37:g.139737649delG	ENSP00000303153:p.Pro725fs		B7ZMH0|C9K0G4|Q8IVT9	Frame_Shift_Del	DEL	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.P725fs	ENST00000303045.6	37	c.2174	CCDS6376.1	8																																																																																			COL22A1	-	pfam_Collagen	ENSG00000169436		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2		0	24	0	G	XM_291257		139737649	-1	tier1		no_errors	ENST00000303045	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-	-	139737649	G	-	139737649	7	5	100	1	0	1	0	1	0	0	0	0	3688	1000	35	0	2874	0	COL22A1	8	139737649	Frame_Shift_Del	DEL	G	TCGA-LN-A49M-01A-21D-A27G-09	133917	139737649	6626373	116	28424											
CPSF1	29894	genome.wustl.edu	37	chr8	145622125	145622125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcctcgtagataagcAgctcttggtccacatgcacc	10	8	11	12	1	1	1	0	0	1	1	3	2	2	2	3	3	3	4	3	3	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:145622125A>G	ENST00000349769.3	-	24	2706	c.2612T>C	c.(2611-2613)cTg>cCg	p.L871P	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	871					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTAGATAAGCAGCTCTTGGTC	0.622																																					NSCLC(133;1088 1848 27708 34777 35269)												0													51	42	45					8																	145622125		2203	4300	6503	SO:0001583	missense	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"cleavage and polyadenylation specific factor 1, 160kD subunit"			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2612T>C	8.37:g.145622125A>G	ENSP00000339353:p.Leu871Pro		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.L871P	ENST00000349769.3	37	c.2612	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	a	21.5	4.164104	0.78339	.	.	ENSG00000071894	ENST00000349769	T	0.58210	0.35	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000002	T	0.67144	0.2862	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70425	-0.4875	10	0.87932	D	0	-16.5443	12.3175	0.54966	1.0:0.0:0.0:0.0	.	871	Q10570	CPSF1_HUMAN	P	871	ENSP00000339353:L871P	ENSP00000339353:L871P	L	-	2	0	CPSF1	145592933	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	8.392000	0.90180	2.020000	0.59435	0.392000	0.25879	CTG	CPSF1	-	NULL	ENSG00000071894		0.622	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	-	0	87	0	A	NM_013291		145622125	-1	tier1	-	no_errors	ENST00000349769	ensembl	human	known	74_37	missense	24.16	113	36	SNP	1.000	G	G	145622125	A	G	145622125	3	3	100	1	0	0	0	0	1	0	0	0	3831	188	7	4	1779	4	CPSF1	8	145622125	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	5884476	145622125	741897	117	28425											
ZNF517	340385	genome.wustl.edu	37	chr8	146032926	146032926	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagcccttccagtgcacaGagtgcgggaaggccttcaag	10	6	12	13	1	1	1	1	0	0	1	2	2	2	2	4	2	3	1	4	2	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr8:146032926G>C	ENST00000531720.1	+	4	670	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.E209Q			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCAGTGCACAGAGTGCGGGAA	0.622																																																	0													33	29	30					8																	146032926		2195	4299	6494	SO:0001583	missense	0			AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"Zinc fingers, C2H2-type", "-"	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.625G>C	8.37:g.146032926G>C	ENSP00000436103:p.Glu209Gln			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E209Q	ENST00000531720.1	37	c.625	CCDS6434.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420101|2.420101	0.42918|0.42918	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000359971;ENST00000531720|ENST00000529429	T;T|.	0.18502|.	2.21;2.21|.	2.7|2.7	-0.619|-0.619	0.11572|0.11572	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.04063|0.04063	-0.285|-0.285	0.09310|0.09310	N|N	0.999994|0.999994	B|.	0.22800|.	0.075|.	B|.	0.20184|.	0.028|.	T|T	0.28808|0.28808	-1.0032|-1.0032	9|5	0.56958|.	D|.	0.05|.	.|.	3.0825|3.0825	0.06267|0.06267	0.1107:0.1706:0.5439:0.1748|0.1107:0.1706:0.5439:0.1748	.|.	209|.	Q6ZMY9|.	ZN517_HUMAN|.	Q|H	209|175	ENSP00000353058:E209Q;ENSP00000436103:E209Q|.	ENSP00000353058:E209Q|.	E|Q	+|+	1|3	0|2	ZNF517|ZNF517	146003730|146003730	0.000000|0.000000	0.05858|0.05858	0.024000|0.024000	0.17045|0.17045	0.868000|0.868000	0.49771|0.49771	0.077000|0.077000	0.14738|0.14738	-0.324000|-0.324000	0.08589|0.08589	0.462000|0.462000	0.41574|0.41574	GAG|CAG	ZNF517	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197363		0.622	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF517	HGNC	protein_coding	OTTHUMT00000382642.1	-	0	51	0	G	XM_291261		146032926	1	tier1	-	no_errors	ENST00000359971	ensembl	human	known	74_37	missense	26.23	45	16	SNP	0.591	C	C	146032926	G	C	146032926	3	2	100	1	0	0	0	0	1	0	0	0	18009	943	33	5	639	5	ZNF517	8	146032926	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	410801	146032926	331096	118	28426											
KDM4C	23081	genome.wustl.edu	37	chr9	7013942	7013942	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccaatgccttccttgAagaggatggaacaagtctcc	11	9	8	13	0	1	2	0	1	1	1	4	4	3	4	5	2	2	0	5	2	4	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:7013942A>T	ENST00000381309.3	+	14	2688	c.2123A>T	c.(2122-2124)gAa>gTa	p.E708V	KDM4C_ENST00000536108.1_Missense_Mutation_p.E527V|KDM4C_ENST00000428870.2_Missense_Mutation_p.E395V|KDM4C_ENST00000535193.1_Missense_Mutation_p.E730V|KDM4C_ENST00000543771.1_Missense_Mutation_p.E708V|KDM4C_ENST00000442236.2_Missense_Mutation_p.E453V|KDM4C_ENST00000381306.3_Missense_Mutation_p.E708V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	708					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GCCTTCCTTGAAGAGGATGGA	0.408																																																	0													144	140	141					9																	7013942		2203	4300	6503	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.2123A>T	9.37:g.7013942A>T	ENSP00000370710:p.Glu708Val		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E708V	ENST00000381309.3	37	c.2123	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169602	0.57584	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870;ENST00000420847	T;T;T;T;T;T;T;T	0.21031	2.11;2.12;2.33;2.24;2.56;2.03;3.31;2.6	5.31	4.17	0.49024	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.163882	0.53938	D	0.000048	T	0.35653	0.0939	L	0.58810	1.83	0.40416	D	0.979799	D;D;D;P;D	0.71674	0.998;0.958;0.989;0.937;0.995	P;P;P;B;P	0.59115	0.852;0.483;0.843;0.405;0.845	T	0.12502	-1.0545	10	0.59425	D	0.04	.	11.1212	0.48291	0.9273:0.0:0.0727:0.0	.	453;708;730;708;708	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	V	730;708;708;708;453;527;395;52	ENSP00000442382:E730V;ENSP00000445427:E708V;ENSP00000370710:E708V;ENSP00000370707:E708V;ENSP00000409353:E453V;ENSP00000440656:E527V;ENSP00000405739:E395V;ENSP00000400127:E52V	ENSP00000370707:E708V	E	+	2	0	KDM4C	7003942	1.000000	0.71417	0.998000	0.56505	0.404000	0.30871	6.825000	0.75293	0.962000	0.38057	0.477000	0.44152	GAA	KDM4C	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000107077		0.408	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	-	0	39	0	A	NM_015061		7013942	1	tier1	-	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	T	T	7013942	A	T	7013942	3	4	100	1	0	0	0	0	1	0	0	0	8157	246	9	5	2243	5	KDM4C	9	7013942	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09		7013942	134199489	119	28427											
BNC2	54796	genome.wustl.edu	37	chr9	16437354	16437354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaagtccttatatctgAgtctgtctttgaagatggta	12	15	9	5	0	3	4	0	3	3	1	4	4	4	4	1	1	0	1	1	1	6	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:16437354A>G	ENST00000380672.4	-	6	895	c.838T>C	c.(838-840)Tca>Cca	p.S280P	BNC2_ENST00000380666.2_Missense_Mutation_p.S280P|BNC2_ENST00000545497.1_Missense_Mutation_p.S185P|BNC2_ENST00000380667.2_Missense_Mutation_p.S213P	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTTATATCTGAGTCTGTCTTT	0.478																																																	0													154	147	149					9																	16437354		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.838T>C	9.37:g.16437354A>G	ENSP00000370047:p.Ser280Pro			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S280P	ENST00000380672.4	37	c.838	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	A	15.96	2.985617	0.53934	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03831	3.79;3.79;3.79;3.79;3.79	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.18841	0.0452	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.76494	0.999;0.998;0.994;0.997;0.997;0.999;0.995;0.998;0.998;0.998	D;D;D;D;D;D;D;D;D;D	0.80764	0.974;0.987;0.986;0.991;0.977;0.994;0.969;0.991;0.991;0.987	T	0.00102	-1.2063	10	0.46703	T	0.11	-9.3449	16.6406	0.85098	1.0:0.0:0.0:0.0	.	185;213;317;280;106;280;238;280;185;45	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;.;BNC2_HUMAN;.;.	P	280;237;317;308;213;185;106;280;280	ENSP00000370047:S280P;ENSP00000408370:S237P;ENSP00000370042:S213P;ENSP00000444640:S185P;ENSP00000370041:S280P	ENSP00000370041:S280P	S	-	1	0	BNC2	16427354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.326000	0.78906	0.533000	0.62120	TCA	BNC2	-	NULL	ENSG00000173068		0.478	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0	64	0	A	NM_017637		16437354	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	51.35	18	19	SNP	1.000	G	G	16437354	A	G	16437354	3	3	100	1	0	0	0	0	1	0	0	0	1477	304	11	4	2469	4	BNC2	9	16437354	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	9423412	16437354	124776077	120	28428											
TEK	7010	genome.wustl.edu	37	chr9	27158043	27158043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctaaaaaagttgtttggaaGagagaaaaggctagtaagat	18	9	12	2	0	0	3	0	0	0	3	0	5	0	4	0	2	0	5	0	2	8	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:27158043G>C	ENST00000380036.4	+	2	709	c.267G>C	c.(265-267)aaG>aaC	p.K89N	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.K89N	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	89	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TTGTTTGGAAGAGAGAAAAGG	0.453																																																	0													113	110	111					9																	27158043		2203	4300	6503	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.267G>C	9.37:g.27158043G>C	ENSP00000369375:p.Lys89Asn		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K89N	ENST00000380036.4	37	c.267	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645978	0.67358	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.74002	-0.76;-0.8	5.92	5.03	0.67393	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000055	T	0.73410	0.3583	N	0.24115	0.695	0.41055	D	0.985336	D;D;D;D	0.65815	0.987;0.995;0.984;0.987	P;D;P;P	0.63192	0.855;0.912;0.883;0.855	T	0.74559	-0.3625	10	0.48119	T	0.1	.	9.2013	0.37260	0.2631:0.0:0.7369:0.0	.	122;89;89;89	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	N	89	ENSP00000369375:K89N;ENSP00000383977:K89N	ENSP00000343716:K89N	K	+	3	2	TEK	27148043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.761000	0.38440	1.507000	0.48752	0.655000	0.94253	AAG	TEK	-	pfam_Tyr_kin_Tie2_Ig-like_dom-1_N	ENSG00000120156		0.453	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0	79	0	G			27158043	1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	missense	62.07	22	36	SNP	1.000	C	C	27158043	G	C	27158043	3	2	100	1	0	0	0	0	1	0	0	0	15798	933	33	5	273	5	TEK	9	27158043	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	10720689	27158043	114055388	121	28429											
DAPK1	1612	genome.wustl.edu	37	chr9	90252871	90252871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcagcgttgcaggtggcGagctgtttgacttcttagct	5	15	12	9	2	2	1	1	1	2	0	3	2	2	1	0	2	4	5	0	2	1	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:90252871G>A	ENST00000408954.3	+	4	633	c.298G>A	c.(298-300)Gag>Aag	p.E100K	DAPK1_ENST00000472284.1_Missense_Mutation_p.E100K|DAPK1_ENST00000469640.2_Missense_Mutation_p.E100K|DAPK1_ENST00000358077.5_Missense_Mutation_p.E100K|DAPK1_ENST00000491893.1_Missense_Mutation_p.E100K	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCAGGTGGCGAGCTGTTTGA	0.418									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													109	108	108					9																	90252871		2075	4242	6317	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.298G>A	9.37:g.90252871G>A	ENSP00000386135:p.Glu100Lys		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.E100K	ENST00000408954.3	37	c.298	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.600344	0.96614	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000165	T	0.68495	0.3007	M	0.82132	2.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.983;0.996	T	0.72221	-0.4356	10	0.87932	D	0	.	19.0661	0.93110	0.0:0.0:1.0:0.0	.	100;100;100	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	K	100	ENSP00000350785:E100K;ENSP00000417076:E100K;ENSP00000418885:E100K;ENSP00000386135:E100K;ENSP00000419026:E100K	ENSP00000350785:E100K	E	+	1	0	DAPK1	89442691	1.000000	0.71417	0.966000	0.40874	0.908000	0.53690	9.657000	0.98554	2.746000	0.94184	0.655000	0.94253	GAG	DAPK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000196730		0.418	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	-	0	46	0	G	NM_004938		90252871	1	tier1	-	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	61.76	13	21	SNP	1.000	A	A	90252871	G	A	90252871	3	1	100	1	0	0	0	0	1	0	0	0	4244	1059	37	1	308	1	DAPK1	9	90252871	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	63094828	90252871	50960560	122	28430											
CYLC2	1539	genome.wustl.edu	37	chr9	105767708	105767708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaagaaagatgcaaaGgagattaaaaaaggtaagaa	22	5	11	3	0	0	4	0	0	0	4	0	6	0	4	1	2	2	2	1	2	8	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:105767708G>T	ENST00000374798.3	+	5	865	c.795G>T	c.(793-795)aaG>aaT	p.K265N	CYLC2_ENST00000487798.1_Missense_Mutation_p.K265N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	265	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.K265N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGATGCAAAGGAGATTAAAA	0.383																																																	1	Substitution - Missense(1)	lung(1)											115	109	111					9																	105767708		2203	4300	6503	SO:0001583	missense	0			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.795G>T	9.37:g.105767708G>T	ENSP00000420256:p.Lys265Asn		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.K265N	ENST00000374798.3	37	c.795	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085679	0.20390	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.16073	2.37;2.37	4.07	2.15	0.27550	.	0.156178	0.29822	N	0.011111	T	0.12263	0.0298	L	0.29908	0.895	0.09310	N	1	P	0.44816	0.844	B	0.42319	0.383	T	0.10543	-1.0625	10	0.62326	D	0.03	-5.5122	6.9007	0.24281	0.0:0.1946:0.6041:0.2014	.	265	Q14093	CYLC2_HUMAN	N	265	ENSP00000420256:K265N;ENSP00000417674:K265N	ENSP00000420256:K265N	K	+	3	2	CYLC2	104807529	0.001000	0.12720	0.016000	0.15963	0.016000	0.09150	-0.001000	0.12947	0.620000	0.30215	0.585000	0.79938	AAG	CYLC2	-	NULL	ENSG00000155833		0.383	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	HGNC	protein_coding	OTTHUMT00000053463.3		0	14	0	G	NM_001340		105767708	1			no_errors	ENST00000374798	ensembl	human	known	74_37	missense	12.50	14	2	SNP	0.020	T	T	105767708	G	T	105767708	3	4	100	1	0	0	0	0	1	0	0	0	4151	991	35	3	813	3	CYLC2	9	105767708	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	15514837	105767708	35445723	123	28431											
SMC2	10592	genome.wustl.edu	37	chr9	106901433	106901433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttaagttcattgtggtgtCactaaaagaaggtatgttca	12	14	9	6	0	3	1	3	0	0	1	3	1	3	1	1	2	0	3	1	2	5	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:106901433C>T	ENST00000286398.7	+	25	3719	c.3431C>T	c.(3430-3432)tCa>tTa	p.S1144L	SMC2_ENST00000374787.3_Missense_Mutation_p.S1144L|SMC2_ENST00000374793.3_Missense_Mutation_p.S1144L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	1144					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATTGTGGTGTCACTAAAAGAA	0.318																																																	0													70	69	70					9																	106901433		2203	4300	6503	SO:0001583	missense	0			AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"Structural maintenance of chromosomes proteins"	14011	protein-coding gene	gene with protein product		605576	"SMC2 (structural maintenance of chromosomes 2, yeast)-like 1", "SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3431C>T	9.37:g.106901433C>T	ENSP00000286398:p.Ser1144Leu		Q6IEE0|Q9P1P2	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge	p.S1144L	ENST00000286398.7	37	c.3431	CCDS35086.1	9	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958188	0.92726	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000374787	T;T;T	0.09538	2.97;2.97;2.97	5.43	5.43	0.79202	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.47764	0.1463	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62172	-0.6910	10	0.87932	D	0	-6.6075	17.9908	0.89168	0.0:1.0:0.0:0.0	.	1144	O95347	SMC2_HUMAN	L	1144	ENSP00000286398:S1144L;ENSP00000363925:S1144L;ENSP00000363919:S1144L	ENSP00000286398:S1144L	S	+	2	0	SMC2	105941254	1.000000	0.71417	0.993000	0.49108	0.875000	0.50365	7.565000	0.82337	2.826000	0.97356	0.655000	0.94253	TCA	SMC2	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000136824		0.318	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC2	HGNC	protein_coding	OTTHUMT00000053470.1		0	16	0	C			106901433	1			no_errors	ENST00000286398	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	T	T	106901433	C	T	106901433	3	4	100	1	0	0	0	0	1	0	0	0	14828	838	29	3	3525	3	SMC2	9	106901433	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1133725	106901433	34311998	124	28432											
LMX1B	4010	genome.wustl.edu	37	chr9	129377800	129377800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaagccctcaccaccaGctgctacttccgggatcgga	9	7	9	16	2	2	0	2	0	0	0	4	2	3	2	4	2	5	3	4	2	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:129377800G>T	ENST00000373474.4	+	2	285	c.278G>T	c.(277-279)aGc>aTc	p.S93I	LMX1B_ENST00000561065.1_Missense_Mutation_p.S70I|RP11-123K19.1_ENST00000451449.2_RNA|LMX1B_ENST00000526117.1_Missense_Mutation_p.S93I|LMX1B_ENST00000425646.2_Missense_Mutation_p.S70I|LMX1B_ENST00000355497.5_Missense_Mutation_p.S93I|RP11-123K19.1_ENST00000425370.1_RNA			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	93	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CTCACCACCAGCTGCTACTTC	0.622									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)												0													89	76	80					9																	129377800		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"Homeoboxes / LIM class"	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.278G>T	9.37:g.129377800G>T	ENSP00000362573:p.Ser93Ile		F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.S93I	ENST00000373474.4	37	c.278	CCDS55342.1	9	.	.	.	.	.	.	.	.	.	.	G	30	5.052471	0.93793	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	4.71	4.71	0.59529	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	M	0.76170	2.325	0.80722	D	1	D;P;D	0.54964	0.96;0.833;0.969	P;P;P	0.58130	0.833;0.521;0.595	D	0.93050	0.6465	10	0.87932	D	0	.	16.2213	0.82258	0.0:0.0:1.0:0.0	.	70;70;93	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	I	93;93;93;70	ENSP00000436930:S93I;ENSP00000362573:S93I;ENSP00000347684:S93I;ENSP00000390923:S70I	ENSP00000347684:S93I	S	+	2	0	LMX1B	128417621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	2.180000	0.69256	0.561000	0.74099	AGC	LMX1B	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136944		0.622	LMX1B-002	KNOWN	basic|CCDS	protein_coding	LMX1B	HGNC	protein_coding	OTTHUMT00000054123.2		0	36	0	G			129377800	1			no_errors	ENST00000355497	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	129377800	G	T	129377800	3	4	100	1	0	0	0	0	1	0	0	0	8892	971	34	3	284	3	LMX1B	9	129377800	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	22476367	129377800	11835631	125	28433											
ENG	2022	genome.wustl.edu	37	chr9	130578263	130578263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagtgcagcagtgagcaggGccccgatgaggaaggcacca	12	3	16	10	1	0	3	0	2	0	1	0	5	0	4	3	3	3	4	3	3	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:130578263G>T	ENST00000373203.4	-	14	2211	c.1811C>A	c.(1810-1812)gCc>gAc	p.A604D	RP11-228B15.4_ENST00000425991.1_RNA|ENG_ENST00000480266.1_5'Flank|ENG_ENST00000344849.3_Missense_Mutation_p.A604D|RP11-228B15.4_ENST00000439298.1_RNA	NM_000118.2|NM_001114753.1|NM_001278138.1	NP_000109.1|NP_001108225.1|NP_001265067.1	P17813	EGLN_HUMAN	endoglin	604			A -> D (in HHT1). {ECO:0000269|PubMed:16752392}.		artery morphogenesis (GO:0048844)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in endocardial cushion formation (GO:0003273)|cell motility (GO:0048870)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|chronological cell aging (GO:0001300)|detection of hypoxia (GO:0070483)|extracellular matrix constituent secretion (GO:0070278)|extracellular matrix disassembly (GO:0022617)|heart looping (GO:0001947)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|patterning of blood vessels (GO:0001569)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of gene expression (GO:0010628)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of phosphorylation (GO:0042325)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to corticosteroid (GO:0031960)|response to hypoxia (GO:0001666)|response to statin (GO:0036273)|response to transforming growth factor beta (GO:0071559)|smooth muscle tissue development (GO:0048745)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endothelial microparticle (GO:0072563)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	activin binding (GO:0048185)|galactose binding (GO:0005534)|glycosaminoglycan binding (GO:0005539)|protein homodimerization activity (GO:0042803)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane signaling receptor activity (GO:0004888)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						AGTGAGCAGGGCCCCGATGAG	0.657									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia																																								0			GRCh37	CM062599	ENG	M							86	62	70					9																	130578263		2203	4298	6501	SO:0001583	missense	0	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HHT, Rendu-Osler-Weber disease, incl.: Pulmonary arteriovenous malformations, hypertrophic osteoarthropathy and juvenile polyposis,	AF035753	CCDS6880.1, CCDS48029.1, CCDS75906.1	9q34.11	2014-09-17	2008-09-04		ENSG00000106991	ENSG00000106991		"CD molecules"	3349	protein-coding gene	gene with protein product		131195	"Osler-Rendu-Weber syndrome 1"	ORW1, ORW		8404038, 10548503	Standard	NM_001278138		Approved	END, HHT1, CD105	uc031tfe.1	P17813	OTTHUMG00000020723	ENST00000373203.4:c.1811C>A	9.37:g.130578263G>T	ENSP00000362299:p.Ala604Asp		Q14248|Q14926|Q5T9C0	Missense_Mutation	SNP	pfam_ZP_dom	p.A604D	ENST00000373203.4	37	c.1811	CCDS48029.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585540	0.86748	.	.	ENSG00000106991	ENST00000373203;ENST00000344849;ENST00000545345;ENST00000546301	T;T	0.54479	0.57;1.13	5.29	5.29	0.74685	.	0.070853	0.56097	D	0.000026	T	0.61311	0.2337	L	0.36672	1.1	0.48135	D	0.999595	D;D	0.71674	0.998;0.998	P;P	0.61477	0.889;0.889	T	0.64647	-0.6358	10	0.87932	D	0	-6.8413	16.0477	0.80731	0.0:0.0:1.0:0.0	.	604;604	Q5T9B9;P17813	.;EGLN_HUMAN	D	604;604;604;422	ENSP00000362299:A604D;ENSP00000341917:A604D	ENSP00000341917:A604D	A	-	2	0	ENG	129618084	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.143000	0.58051	2.482000	0.83794	0.462000	0.41574	GCC	ENG	-	NULL	ENSG00000106991		0.657	ENG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENG	HGNC	protein_coding	OTTHUMT00000054313.1	-	0	46	0	G			130578263	-1	tier1	-	no_errors	ENST00000373203	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	T	T	130578263	G	T	130578263	3	4	100	1	0	0	0	0	1	0	0	0	5133	1203	42	3	199	3	ENG	9	130578263	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1200463	130578263	10635168	126	28434											
DPM2	8818	genome.wustl.edu	37	chr9	130698040	130698040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctcttggtcttcagcatCacataggagatgaacagtcc	11	11	8	11	0	4	2	2	1	2	1	6	3	5	2	1	2	2	1	1	2	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:130698040C>T	ENST00000314392.8	-	4	879	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	72					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						TCTTCAGCATCACATAGGAGA	0.567																																																	0													134	112	119					9																	130698040		2203	4300	6503	SO:0001819	synonymous_variant	0			AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"DPM synthase complex subunit"	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.216G>A	9.37:g.130698040C>T			Q5XKK9|Q6FGH3	Silent	SNP	pfam_DPM2	p.V72	ENST00000314392.8	37	c.216	CCDS6886.1	9																																																																																			DPM2	-	pfam_DPM2	ENSG00000136908		0.567	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPM2	HGNC	protein_coding	OTTHUMT00000054324.1	-	0	48	0	C	NM_003863		130698040	-1	tier1	-	no_errors	ENST00000314392	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.985	T	T	130698040	C	T	130698040	2	4	100	1	0	0	0	0	0	0	0	1	4739	813	29	3		3	DPM2	9	130698040	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	119777	130698040	10515391	127	28435											
OLFM1	10439	genome.wustl.edu	37	chr9	138011671	138011671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctgtgggccgtgtacGccaccaaccagaacgctggc	7	5	15	14	4	0	1	0	0	0	1	0	1	0	1	4	3	3	3	4	3	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:138011671G>A	ENST00000371793.3	+	6	1356	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T	OLFM1_ENST00000252854.4_Missense_Mutation_p.A351T|OLFM1_ENST00000371796.3_Missense_Mutation_p.A342T	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	369	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGCCGTGTACGCCACCAACCA	0.627																																																	0													77	60	66					9																	138011671		2203	4300	6503	SO:0001583	missense	0			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"pancortin"	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1105G>A	9.37:g.138011671G>A	ENSP00000360858:p.Ala369Thr		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	p.A369T	ENST00000371793.3	37	c.1105		9	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325467	0.60743	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.91237	-2.81;-2.81;-2.81	5.07	4.14	0.48551	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.053005	0.85682	D	0.000000	D	0.88976	0.6584	L	0.39566	1.225	0.58432	D	0.999993	D;P	0.57899	0.981;0.499	P;B	0.50049	0.629;0.217	D	0.86184	0.1608	10	0.23302	T	0.38	.	15.1732	0.72891	0.0:0.142:0.858:0.0	.	369;351	Q99784;Q6IMJ8	NOE1_HUMAN;.	T	351;342;369	ENSP00000252854:A351T;ENSP00000360861:A342T;ENSP00000360858:A369T	ENSP00000252854:A351T	A	+	1	0	OLFM1	137151492	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	7.578000	0.82498	1.079000	0.41038	0.561000	0.74099	GCC	OLFM1	-	pfam_Olfac-like,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like	ENSG00000130558		0.627	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	HGNC	protein_coding	OTTHUMT00000054974.1	-	0	17	0	G	NM_014279		138011671	1	tier1	-	no_errors	ENST00000371793	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A	A	138011671	G	A	138011671	3	1	100	1	0	0	0	0	1	0	0	0	10891	1087	38	1	1083	1	OLFM1	9	138011671	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	7313631	138011671	3201760	128	28436											
SNAPC4	6621	genome.wustl.edu	37	chr9	139282959	139282959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgcgtgagcatgcggtCctcctcctctgtccactcct	4	11	9	17	2	1	1	0	1	1	0	6	1	6	1	5	1	4	2	5	1	0	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr9:139282959C>T	ENST00000298532.2	-	10	1428	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGCATGCGGTCCTCCTCCTCT	0.627																																																	0													123	95	105					9																	139282959		2203	4300	6503	SO:0001583	missense	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"small nuclear RNA activating complex, polypeptide 4, 190kD"			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1060G>A	9.37:g.139282959C>T	ENSP00000298532:p.Asp354Asn			Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D354N	ENST00000298532.2	37	c.1060	CCDS6998.1	9	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838133	0.91117	.	.	ENSG00000165684	ENST00000298532	T	0.28895	1.59	5.21	5.21	0.72293	SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (2);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.89353	3.025	0.43879	D	0.996493	D	0.89917	1.0	D	0.97110	1.0	T	0.71361	-0.4616	10	0.72032	D	0.01	-38.1495	17.7432	0.88412	0.0:1.0:0.0:0.0	.	354	Q5SXM2	SNPC4_HUMAN	N	354	ENSP00000298532:D354N	ENSP00000298532:D354N	D	-	1	0	SNAPC4	138402780	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.763000	0.62257	2.438000	0.82558	0.561000	0.74099	GAC	SNAPC4	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000165684		0.627	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	-	0	28	0	C	NM_003086		139282959	-1	tier1	-	no_errors	ENST00000298532	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	T	T	139282959	C	T	139282959	3	4	100	1	0	0	0	0	1	0	0	0	14882	855	30	3	3401	3	SNAPC4	9	139282959	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1271288	139282959	1930472	129	28437											
LRRTM3	347731	genome.wustl.edu	37	chr10	68857428	68857428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggtgcatcatgaacttctCtcccataagtcctttgaaac	10	12	8	11	0	2	2	1	2	1	0	5	2	4	2	2	2	3	1	2	2	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr10:68857428C>T	ENST00000361320.4	+	3	2198	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	540					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ATGAACTTCTCTCCCATAAGT	0.453																																																	0													168	149	155					10																	68857428		2203	4300	6503	SO:0001819	synonymous_variant	0			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.1620C>T	10.37:g.68857428C>T			A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L540	ENST00000361320.4	37	c.1620	CCDS7270.1	10																																																																																			LRRTM3	-	NULL	ENSG00000198739		0.453	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	-	0	67	0	C	NM_178011		68857428	1	tier1	-	no_errors	ENST00000361320	ensembl	human	known	74_37	silent	26.76	52	19	SNP	1.000	T	T	68857428	C	T	68857428	2	4	100	1	0	0	0	0	0	0	0	1	9076	900	32	3		3	LRRTM3	10	68857428	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09		68857428	66677319	130	28438											
MYPN	84665	genome.wustl.edu	37	chr10	69961659	69961659	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcccgaaggccaccccgtGagactggagtgccgcgtgat	7	7	14	13	4	0	2	0	2	0	1	1	5	1	3	5	2	1	1	5	2	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr10:69961659G>A	ENST00000358913.5	+	18	4055	c.3567G>A	c.(3565-3567)gtG>gtA	p.V1189V	MYPN_ENST00000540630.1_Silent_p.V1189V|MYPN_ENST00000354393.2_Silent_p.V914V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1189	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCACCCCGTGAGACTGGAGT	0.527																																																	0													128	115	120					10																	69961659		2203	4300	6503	SO:0001819	synonymous_variant	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"Immunoglobulin superfamily / I-set domain containing"	23246	protein-coding gene	gene with protein product	"sarcomeric protein myopalladin, 145 kDa"	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3567G>A	10.37:g.69961659G>A			Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V1189	ENST00000358913.5	37	c.3567	CCDS7275.1	10																																																																																			MYPN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000138347		0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	-	0	19	0	G	NM_032578		69961659	1	tier1	-	no_errors	ENST00000358913	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.993	A	A	69961659	G	A	69961659	2	1	100	1	0	0	0	0	0	0	0	1	10136	1277	45	3		3	MYPN	10	69961659	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1104231	69961659	65573088	131	28439											
DDX21	9188	genome.wustl.edu	37	chr10	70716052	70716052	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaaaaaggggagacactgcGaaagcaaaccgaggaggtga	18	2	15	6	2	0	2	0	1	0	1	0	7	0	3	1	4	3	1	1	4	5	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr10:70716052G>C	ENST00000354185.4	+	1	169	c.71G>C	c.(70-72)cGa>cCa	p.R24P		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	24					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGACACTGCGAAAGCAAACC	0.622																																																	0													84	74	77					10																	70716052		2203	4300	6503	SO:0001583	missense	0			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"DEAD-boxes"	2744	protein-coding gene	gene with protein product		606357	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.71G>C	10.37:g.70716052G>C	ENSP00000346120:p.Arg24Pro		B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R24P	ENST00000354185.4	37	c.71	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360682	0.24598	.	.	ENSG00000165732	ENST00000354185;ENST00000541642	T	0.43294	0.95	5.02	-0.157	0.13387	.	1.604020	0.04095	N	0.311967	T	0.24890	0.0604	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.14504	-1.0470	10	0.30078	T	0.28	0.0	4.7686	0.13144	0.2533:0.2948:0.4519:0.0	.	24	Q9NR30	DDX21_HUMAN	P	24	ENSP00000346120:R24P	ENSP00000346120:R24P	R	+	2	0	DDX21	70386058	0.095000	0.21747	0.000000	0.03702	0.124000	0.20399	0.320000	0.19540	-0.099000	0.12263	0.655000	0.94253	CGA	DDX21	-	NULL	ENSG00000165732		0.622	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	-	0	18	0	G	NM_004728		70716052	1	tier1	-	no_errors	ENST00000354185	ensembl	human	known	74_37	missense	33.33	10	5	SNP	0.001	C	C	70716052	G	C	70716052	3	2	100	1	0	0	0	0	1	0	0	0	4358	1058	37	5	73	5	DDX21	10	70716052	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	754393	70716052	64818695	132	28440											
VCL	7414	genome.wustl.edu	37	chr10	75802874	75802874	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttcaaaccactgaggatCagattttgaagagagatatg	14	11	10	6	0	2	5	2	2	0	3	2	7	2	6	1	1	1	1	1	1	3	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr10:75802874C>T	ENST00000211998.4	+	2	296	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	VCL_ENST00000372755.3_Nonsense_Mutation_p.Q68*|VCL_ENST00000478896.2_3'UTR|VCL_ENST00000417648.2_Nonsense_Mutation_p.Q68*	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	68	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CACTGAGGATCAGATTTTGAA	0.303																																																	0													104	115	111					10																	75802874		2203	4294	6497	SO:0001587	stop_gained	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.202C>T	10.37:g.75802874C>T	ENSP00000211998:p.Gln68*		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Nonsense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.Q68*	ENST00000211998.4	37	c.202	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.764113	0.97821	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648	.	.	.	5.11	5.11	0.69529	.	0.072219	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	17.664	0.88199	0.0:1.0:0.0:0.0	.	.	.	.	X	68	.	ENSP00000211998:Q68X	Q	+	1	0	VCL	75472880	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.933000	0.70130	2.526000	0.85167	0.655000	0.94253	CAG	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.303	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0	64	0	C	NM_003373, NM_014000		75802874	1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	nonsense	40.91	26	18	SNP	1.000	T	T	75802874	C	T	75802874	4	4	100	1	0	0	0	0	0	1	0	0	17188	827	29	3	208	3	VCL	10	75802874	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	5086822	75802874	59731873	133	28441											
TUBGCP2	10844	genome.wustl.edu	37	chr10	135111525	135111525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgatcagggcaggtctctCatacacccatgctgggaaga	10	7	11	13	1	3	1	2	0	1	1	4	3	3	2	2	3	2	2	2	3	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr10:135111525C>G	ENST00000252936.3	-	4	586	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.E183Q|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.E53Q|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.E183Q|TUBGCP2_ENST00000470829.1_5'Flank|RP11-122K13.12_ENST00000424450.1_RNA			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	183					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCAGGTCTCTCATACACCCAT	0.512																																																	0													172	151	158					10																	135111525		2203	4300	6503	SO:0001583	missense	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.547G>C	10.37:g.135111525C>G	ENSP00000252936:p.Glu183Gln		B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	pfam_TUBGCP,superfamily_Ocr	p.E183Q	ENST00000252936.3	37	c.547	CCDS7676.1	10	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553774	0.86231	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.18960	2.43;2.18;2.43;2.31	5.24	5.24	0.73138	.	0.094116	0.64402	D	0.000001	T	0.35364	0.0929	L	0.59436	1.845	0.49915	D	0.999834	P;P;D	0.56968	0.831;0.74;0.978	P;B;P	0.52424	0.615;0.41;0.698	T	0.03453	-1.1035	10	0.49607	T	0.09	-33.9696	17.7919	0.88555	0.0:1.0:0.0:0.0	.	183;183;183	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	Q	183;53;183;183	ENSP00000252936:E183Q;ENSP00000395666:E53Q;ENSP00000357551:E183Q;ENSP00000446093:E183Q	ENSP00000252936:E183Q	E	-	1	0	TUBGCP2	134961515	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.792000	0.69052	2.619000	0.88677	0.561000	0.74099	GAG	TUBGCP2	-	NULL	ENSG00000130640		0.512	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0	64	0	C			135111525	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	G	G	135111525	C	G	135111525	3	3	100	1	0	0	0	0	1	0	0	0	16815	835	29	5	2217	5	TUBGCP2	10	135111525	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	59308651	135111525	423222	134	28442											
IFITM1	8519	genome.wustl.edu	37	chr11	314322	314322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcttgaactggtgctGtctgggcttcatagcattcg	5	15	10	11	1	4	1	1	1	3	0	5	1	4	1	1	2	3	3	1	2	2	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:314322G>T	ENST00000408968.3	+	1	470	c.152G>T	c.(151-153)tGt>tTt	p.C51F	IFITM1_ENST00000528780.1_Missense_Mutation_p.C51F|IFITM1_ENST00000328221.5_Missense_Mutation_p.C51F	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	51					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AACTGGTGCTGTCTGGGCTTC	0.602																																																	0													134	140	138					11																	314322		2059	4208	6267	SO:0001583	missense	0			J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"CD molecules"	5412	protein-coding gene	gene with protein product	"interferon-induced transmembrane protein 1"	604456	"interferon induced transmembrane protein 1 (9-27)"	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.152G>T	11.37:g.314322G>T	ENSP00000386187:p.Cys51Phe		Q15322|Q53XZ0	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.C51F	ENST00000408968.3	37	c.152	CCDS41584.1	11	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709977	0.48517	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.87887	-2.31;-2.31;-2.31	3.14	3.14	0.36123	.	0.000000	0.64402	U	0.000001	D	0.93766	0.8007	M	0.92923	3.36	0.54753	D	0.999988	D	0.71674	0.998	D	0.72338	0.977	D	0.94071	0.7335	10	0.87932	D	0	.	9.9145	0.41425	0.0:0.0:1.0:0.0	.	51	P13164	IFM1_HUMAN	F	51;51;51;54	ENSP00000437057:C51F;ENSP00000330825:C51F;ENSP00000386187:C51F	ENSP00000330825:C51F	C	+	2	0	IFITM1	304322	1.000000	0.71417	0.992000	0.48379	0.332000	0.28634	6.065000	0.71176	1.771000	0.52183	0.205000	0.17691	TGT	IFITM1	-	pfam_CD225/Dispanin_fam	ENSG00000185885		0.602	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFITM1	HGNC	protein_coding	OTTHUMT00000383595.1	-	0	75	0	G	NM_003641		314322	1	tier1	-	no_errors	ENST00000328221	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	314322	G	T	314322	3	4	100	1	0	0	0	0	1	0	0	0	7553	1377	48	3	154	3	IFITM1	11	314322	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		314322	134692194	135	28443											
DNHD1	144132	genome.wustl.edu	37	chr11	6519527	6519527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttggcactccatatgtGtcttggacagcaaagaacag	12	10	10	9	0	2	1	0	0	2	1	3	2	3	2	1	2	2	2	1	2	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:6519527G>T	ENST00000527990.2	+	1	82	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	DNHD1_ENST00000354685.3_Missense_Mutation_p.V28F|DNHD1_ENST00000254579.6_Missense_Mutation_p.V28F|DNHD1_ENST00000477562.1_Intron			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	28					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTCCATATGTGTCTTGGACAG	0.532																																																	0													196	193	194					11																	6519527		2201	4296	6497	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"chromosome 11 open reading frame 47", "dynein heavy chain domain 1-like", "coiled-coil domain containing 35"	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.82G>T	11.37:g.6519527G>T	ENSP00000436180:p.Val28Phe		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.V28F	ENST00000527990.2	37	c.82	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	12.47	1.948346	0.34377	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.28069	1.63;2.54;1.63	4.14	-0.187	0.13268	.	1.131030	0.06820	N	0.792075	T	0.20455	0.0492	N	0.19112	0.55	0.09310	N	1	P;D	0.54207	0.94;0.965	B;P	0.44811	0.272;0.461	T	0.14671	-1.0464	10	0.87932	D	0	.	3.294	0.06960	0.4083:0.2092:0.3824:0.0	.	28;28	Q96M86;Q96M86-4	DNHD1_HUMAN;.	F	28	ENSP00000254579:V28F;ENSP00000346716:V28F;ENSP00000436180:V28F	ENSP00000254579:V28F	V	+	1	0	DNHD1	6476103	0.002000	0.14202	0.000000	0.03702	0.021000	0.10359	0.069000	0.14552	-0.134000	0.11516	0.563000	0.77884	GTC	DNHD1	-	NULL	ENSG00000179532		0.532	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0	30	0	G	NM_144666		6519527	1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.000	T	T	6519527	G	T	6519527	3	4	100	1	0	0	0	0	1	0	0	0	4682	1377	48	3	84	3	DNHD1	11	6519527	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	6205205	6519527	128486989	136	28444											
FOLH1	2346	genome.wustl.edu	37	chr11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcctctgcaattccaCgcctataagcatattctgaa	13	10	5	13	1	2	1	0	1	2	0	3	1	3	1	3	0	4	2	3	0	6	5	rs116795343	byFrequency	TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																																	1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.R281H	ENST00000256999.2	37	c.842	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT	FOLH1	-	NULL	ENSG00000086205		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	44	0	C	NM_004476		49204779	-1	tier1	rs116795343	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	12.20	36	5	SNP	0.843	T	T	49204779	C	T	49204779	3	4	100	1	0	0	0	0	1	0	0	0	6001	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	42685252	49204779	85801737	137	28445			1	26		2	2	12	N	C_A	9.877847e-05
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000533034.1_Silent_p.Y262Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000343844.4_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	39	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	18.42	31	7	SNP	1.000	G	G	49204790	A	G	49204790	2	3	100	1	0	0	0	0	0	0	0	1	6001	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	11	49204790	85801726	138	28446			1	26		2	2	12	N	C_A	9.877847e-05
OR4C6	219432	genome.wustl.edu	37	chr11	55432918	55432918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcactaccatctctctCaaaggctgcctcacccagct	11	8	6	16	0	3	1	2	0	2	1	5	1	3	1	3	1	4	3	3	1	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:55432918C>T	ENST00000314259.3	+	1	305	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L92L(2)|p.L92P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCATCTCTCTCAAAGGCTGCC	0.502																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|cervix(1)											140	126	131					11																	55432918		2200	4296	6496	SO:0001819	synonymous_variant	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.276C>T	11.37:g.55432918C>T			B2RP11|Q6IFD2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L92	ENST00000314259.3	37	c.276	CCDS31506.1	11																																																																																			OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181903		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	-	0	22	0	C	NM_001004704		55432918	1	tier1	-	no_errors	ENST00000314259	ensembl	human	known	74_37	silent	20.83	19	5	SNP	0.000	T	T	55432918	C	T	55432918	2	4	100	1	0	0	0	0	0	0	0	1	11091	813	29	3		3	OR4C6	11	55432918	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	6228128	55432918	79573598	139	28447											
DAGLA	747	genome.wustl.edu	37	chr11	61491028	61491028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggaggcagcgtaacctgCggacctacaacctgcggtca	11	5	13	12	3	1	1	1	0	0	1	1	3	1	3	3	4	6	2	3	4	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:61491028C>T	ENST00000257215.5	+	5	648	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	178					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCGTAACCTGCGGACCTACAA	0.607																																																	0													104	93	97					11																	61491028		2202	4299	6501	SO:0001583	missense	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.532C>T	11.37:g.61491028C>T	ENSP00000257215:p.Arg178Trp		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.R178W	ENST00000257215.5	37	c.532	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859968	0.71834	.	.	ENSG00000134780	ENST00000257215	T	0.25912	1.77	4.69	2.6	0.31112	.	0.058396	0.64402	D	0.000005	T	0.26195	0.0639	N	0.19112	0.55	0.48395	D	0.999644	D	0.69078	0.997	P	0.53490	0.727	T	0.10941	-1.0608	10	0.87932	D	0	-28.9437	13.2044	0.59787	0.3877:0.6123:0.0:0.0	.	178	Q9Y4D2	DGLA_HUMAN	W	178	ENSP00000257215:R178W	ENSP00000257215:R178W	R	+	1	2	DAGLA	61247604	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.041000	0.49807	1.070000	0.40811	0.561000	0.74099	CGG	DAGLA	-	NULL	ENSG00000134780		0.607	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	-	0	25	0	C	NM_006133		61491028	1	tier1	-	no_errors	ENST00000257215	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	T	T	61491028	C	T	61491028	3	4	100	1	0	0	0	0	1	0	0	0	4235	759	27	1	546	1	DAGLA	11	61491028	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	6058110	61491028	73515488	140	28448											
AHNAK	79026	genome.wustl.edu	37	chr11	62289859	62289859	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttcaccttagggcctttCagatgcaaatcaaagtcagg	11	11	8	11	0	4	1	4	0	0	1	4	1	4	1	3	2	1	1	3	2	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:62289859C>G	ENST00000378024.4	-	5	12304	c.12030G>C	c.(12028-12030)ctG>ctC	p.L4010L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4010					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAGGGCCTTTCAGATGCAAAT	0.478																																																	0													194	203	200					11																	62289859		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12030G>C	11.37:g.62289859C>G			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L4010	ENST00000378024.4	37	c.12030	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	103	0	C	NM_024060		62289859	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	30.16	88	38	SNP	0.030	G	G	62289859	C	G	62289859	2	3	100	1	0	0	0	0	0	0	0	1	414	813	29	5		5	AHNAK	11	62289859	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	798831	62289859	72716657	141	28449											
AHNAK	79026	genome.wustl.edu	37	chr11	62290087	62290087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcttgggcatttttatCttaggcatcttcaggtgcca	7	16	9	9	0	4	1	1	1	3	0	4	1	4	1	1	3	1	2	1	3	2	6	rs199930235		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:62290087C>A	ENST00000378024.4	-	5	12076	c.11802G>T	c.(11800-11802)aaG>aaT	p.K3934N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3934					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTTATCTTAGGCATCT	0.502																																																	0													225	239	234					11																	62290087		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11802G>T	11.37:g.62290087C>A	ENSP00000367263:p.Lys3934Asn		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K3934N	ENST00000378024.4	37	c.11802	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	8.751	0.921233	0.17982	.	.	ENSG00000124942	ENST00000378024	T	0.02606	4.23	4.71	0.0733	0.14390	.	0.000000	0.37715	U	0.001976	T	0.14270	0.0345	M	0.89785	3.06	0.19945	N	0.999948	D	0.64830	0.994	D	0.76071	0.987	T	0.02457	-1.1156	10	0.41790	T	0.15	.	8.7849	0.34814	0.0:0.6533:0.0:0.3467	.	3934	Q09666	AHNK_HUMAN	N	3934	ENSP00000367263:K3934N	ENSP00000367263:K3934N	K	-	3	2	AHNAK	62046663	0.002000	0.14202	0.052000	0.19188	0.266000	0.26442	-0.046000	0.11983	-0.283000	0.09115	-0.302000	0.09304	AAG	AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	112	0	C	NM_024060		62290087	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	37.97	98	60	SNP	0.023	A	A	62290087	C	A	62290087	3	1	100	1	0	0	0	0	1	0	0	0	414	912	32	3	5990	3	AHNAK	11	62290087	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	228	62290087	72716429	142	28450											
AHNAK	79026	genome.wustl.edu	37	chr11	62299163	62299163	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacccaccttgggtcctGagatgtccacatcagccttg	9	9	8	15	0	1	1	1	1	0	1	3	2	3	1	5	1	2	0	5	1	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:62299163G>T	ENST00000378024.4	-	5	3000	c.2726C>A	c.(2725-2727)tCa>tAa	p.S909*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	909					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGATGTCCAC	0.498																																																	0													165	176	172					11																	62299163		2202	4299	6501	SO:0001587	stop_gained	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2726C>A	11.37:g.62299163G>T	ENSP00000367263:p.Ser909*		A1A586	Nonsense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S909*	ENST00000378024.4	37	c.2726	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	g	40	8.273837	0.98737	.	.	ENSG00000124942	ENST00000378024	.	.	.	5.19	5.19	0.71726	.	0.732597	0.11497	N	0.558085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3133	17.4887	0.87696	0.0:0.0:1.0:0.0	.	.	.	.	X	909	.	ENSP00000367263:S909X	S	-	2	0	AHNAK	62055739	0.591000	0.26824	0.988000	0.46212	0.378000	0.30076	3.855000	0.55957	2.430000	0.82344	0.455000	0.32223	TCA	AHNAK	-	NULL	ENSG00000124942		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	143	0	G	NM_024060		62299163	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	nonsense	27.10	113	42	SNP	1.000	T	T	62299163	G	T	62299163	4	4	100	1	0	0	0	0	0	1	0	0	414	1294	45	3	15066	3	AHNAK	11	62299163	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	9076	62299163	72707353	143	28451											
TAF6L	10629	genome.wustl.edu	37	chr11	62554015	62554015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagagcgactgctgaagatGaaggcccaggcagcagagcc	12	4	15	10	1	0	5	0	2	0	3	0	6	0	5	2	2	4	4	2	2	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:62554015G>A	ENST00000294168.3	+	11	1317	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	TMEM179B_ENST00000333449.4_5'Flank|TMEM179B_ENST00000533861.1_5'Flank|TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	372					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGCTGAAGATGAAGGCCCAGG	0.572											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													19	19	19					11																	62554015		2201	4298	6499	SO:0001583	missense	0			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1116G>A	11.37:g.62554015G>A	ENSP00000294168:p.Met372Ile	1062	B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.M372I	ENST00000294168.3	37	c.1116	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	G	17.02	3.280692	0.59758	.	.	ENSG00000162227	ENST00000294168	T	0.44881	0.91	5.24	4.32	0.51571	.	0.044972	0.85682	D	0.000000	T	0.27241	0.0668	N	0.24115	0.695	0.80722	D	1	P	0.35844	0.524	B	0.31946	0.138	T	0.07252	-1.0782	10	0.33141	T	0.24	-2.9094	12.2157	0.54404	0.0835:0.0:0.9165:0.0	.	372	Q9Y6J9	TAF6L_HUMAN	I	372	ENSP00000294168:M372I	ENSP00000294168:M372I	M	+	3	0	TAF6L	62310591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.412000	0.66392	1.553000	0.49476	0.655000	0.94253	ATG	TAF6L	-	NULL	ENSG00000162227		0.572	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	-	0	12	0	G	NM_006473		62554015	1	tier1	-	no_errors	ENST00000294168	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	A	A	62554015	G	A	62554015	3	1	100	1	0	0	0	0	1	0	0	0	15578	1290	45	3	1154	3	TAF6L	11	62554015	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	254852	62554015	72452501	144	28452											
PYGM	5837	genome.wustl.edu	37	chr11	64527313	64527313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcacgttctccacgccggCcaggccacgcacactgattt	8	8	9	16	4	2	1	1	1	1	0	3	1	2	1	4	2	0	2	4	2	0	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:64527313C>G	ENST00000164139.3	-	1	456	c.58G>C	c.(58-60)Gcc>Ccc	p.A20P	PYGM_ENST00000377432.3_Missense_Mutation_p.A20P	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	20					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCACGCCGGCCAGGCCACGC	0.577																																																	0													163	152	155					11																	64527313		2201	4297	6498	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"Glycogen phosphorylases"	9726	protein-coding gene	gene with protein product	"McArdle syndrome", "glycogen storage disease type V", "glycogen phosphorylase, muscle form"	608455	"phosphorylase, glycogen; muscle"				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.58G>C	11.37:g.64527313C>G	ENSP00000164139:p.Ala20Pro		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A20P	ENST00000164139.3	37	c.58	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797519	0.70567	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.94138	-3.2;-3.36	5.41	4.49	0.54785	.	0.104769	0.42548	N	0.000697	D	0.92609	0.7652	M	0.79475	2.455	0.80722	D	1	B;B	0.15473	0.0;0.013	B;B	0.17433	0.0;0.018	D	0.89917	0.4056	10	0.41790	T	0.15	-21.0153	14.0059	0.64463	0.0:0.8474:0.1526:0.0	.	20;20	A6NDY6;P11217	.;PYGM_HUMAN	P	20	ENSP00000366650:A20P;ENSP00000164139:A20P	ENSP00000164139:A20P	A	-	1	0	PYGM	64283889	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.870000	0.69620	1.288000	0.44600	0.655000	0.94253	GCC	PYGM	-	pirsf_Glyco_trans_35	ENSG00000068976		0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	-	0	52	0	C	NM_005609		64527313	-1	tier1	-	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	30.38	55	24	SNP	1.000	G	G	64527313	C	G	64527313	3	3	100	1	0	0	0	0	1	0	0	0	12907	739	26	5	2550	5	PYGM	11	64527313	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1973298	64527313	70479203	145	28453											
NDUFS8	4728	genome.wustl.edu	37	chr11	67800424	67800424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcccgagatggacatGaagtcagtgactgaccgggc	11	6	14	10	2	1	4	1	3	0	1	2	7	2	6	2	3	0	0	2	3	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:67800424G>T	ENST00000313468.5	+	4	251	c.144G>T	c.(142-144)atG>atT	p.M48I	MIR4691_ENST00000583764.1_RNA|NDUFS8_ENST00000528492.1_Intron|RP5-901A4.1_ENST00000532296.1_RNA	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	48					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						AGATGGACATGAAGTCAGTGA	0.637																																					Colon(116;1205 2770 20054)												0													96	88	91					11																	67800424		2200	4294	6494	SO:0001583	missense	0			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"Mitochondrial respiratory chain complex / Complex I"	7715	protein-coding gene	gene with protein product	"complex I 23kDa subunit", "NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"	602141	"NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.144G>T	11.37:g.67800424G>T	ENSP00000315774:p.Met48Ile		B2RB86|Q0VDA8	Nonsense_Mutation	SNP	NULL	p.E67*	ENST00000313468.5	37	c.199	CCDS8176.1	11	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107574	0.77096	.	.	ENSG00000110717	ENST00000313468;ENST00000453471;ENST00000526339;ENST00000525419;ENST00000525628	D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15	5.19	5.19	0.71726	.	0.176942	0.64402	D	0.000017	D	0.92407	0.7590	M	0.71036	2.16	0.80722	D	1	P;B;B	0.35174	0.488;0.064;0.032	B;B;B	0.36092	0.217;0.019;0.003	D	0.90941	0.4797	10	0.22109	T	0.4	.	17.3053	0.87192	0.0:0.0:1.0:0.0	.	48;48;48	B4DYI3;E9PPW7;O00217	.;.;NDUS8_HUMAN	I	48;48;48;30;48	ENSP00000315774:M48I;ENSP00000403972:M48I;ENSP00000436287:M48I;ENSP00000433521:M30I;ENSP00000432968:M48I	ENSP00000315774:M48I	M	+	3	0	NDUFS8	67557000	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	9.678000	0.98647	2.417000	0.82017	0.655000	0.94253	ATG	NDUFS8	-	NULL	ENSG00000110717		0.637	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS8	HGNC	protein_coding	OTTHUMT00000394193.1	-	0	50	0	G	NM_002496		67800424	1	tier1	-	no_errors	ENST00000531228	ensembl	human	known	74_37	nonsense	35.80	52	29	SNP	1.000	T	T	67800424	G	T	67800424	3	4	100	1	0	0	0	0	1	0	0	0	10337	1290	45	3	154	3	NDUFS8	11	67800424	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	3273111	67800424	67206092	146	28454											
IGHMBP2	3508	genome.wustl.edu	37	chr11	68707045	68707045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgcgcccatgcccggcagaGaatcagccgggaaggggtcc	8	4	15	14	4	1	1	1	0	0	1	3	3	2	2	4	4	2	1	4	4	2	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:68707045G>C	ENST00000255078.3	+	15	2939	c.2828G>C	c.(2827-2829)aGa>aCa	p.R943T	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	943					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCGGCAGAGAATCAGCCGG	0.642																																																	0													32	37	35					11																	68707045		2200	4294	6494	SO:0001583	missense	0			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2828G>C	11.37:g.68707045G>C	ENSP00000255078:p.Arg943Thr		A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.R943T	ENST00000255078.3	37	c.2828	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195569	0.58126	.	.	ENSG00000132740	ENST00000255078	T	0.41400	1.0	4.54	2.62	0.31277	Zinc finger, AN1-type (1);	0.112530	0.64402	N	0.000014	T	0.42449	0.1203	L	0.53249	1.67	0.80722	D	1	D	0.53619	0.961	P	0.49637	0.617	T	0.20009	-1.0288	10	0.26408	T	0.33	-7.5391	9.7631	0.40543	0.1798:0.0:0.8202:0.0	.	943	P38935	SMBP2_HUMAN	T	943	ENSP00000255078:R943T	ENSP00000255078:R943T	R	+	2	0	IGHMBP2	68463621	1.000000	0.71417	0.966000	0.40874	0.760000	0.43138	4.093000	0.57714	0.885000	0.36088	0.491000	0.48974	AGA	IGHMBP2	-	NULL	ENSG00000132740		0.642	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	-	0	62	0	G	NM_002180		68707045	1	tier1	-	no_errors	ENST00000255078	ensembl	human	known	74_37	missense	32.32	67	32	SNP	0.999	C	C	68707045	G	C	68707045	3	2	100	1	0	0	0	0	1	0	0	0	7618	942	33	5	2886	5	IGHMBP2	11	68707045	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	906621	68707045	66299471	147	28455											
RSF1	51773	genome.wustl.edu	37	chr11	77383154	77383154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttaccacgtcgcaaactCttctgggaaccgtcactttc	8	13	6	14	3	4	0	1	0	3	0	6	1	4	1	2	1	3	1	2	1	3	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:77383154C>T	ENST00000308488.6	-	15	3986	c.3684G>A	c.(3682-3684)aaG>aaA	p.K1228K	RSF1_ENST00000360355.2_Silent_p.K1197K|RSF1_ENST00000480887.1_Silent_p.K976K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1228	Arg-rich.				CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTCGCAAACTCTTCTGGGAAC	0.418																																																	0													220	209	213					11																	77383154		2200	4292	6492	SO:0001819	synonymous_variant	0			AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"Zinc fingers, PHD-type"	18118	protein-coding gene	gene with protein product		608522	"hepatitis B virus x associated protein"	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3684G>A	11.37:g.77383154C>T			Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K1228	ENST00000308488.6	37	c.3684	CCDS8253.1	11																																																																																			RSF1	-	NULL	ENSG00000048649		0.418	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RSF1	HGNC	protein_coding	OTTHUMT00000318075.2	-	0	54	0	C	NM_016578		77383154	-1	tier1	-	no_errors	ENST00000308488	ensembl	human	known	74_37	silent	54.05	17	20	SNP	0.961	T	T	77383154	C	T	77383154	2	4	100	1	0	0	0	0	0	0	0	1	13744	912	32	3		3	RSF1	11	77383154	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	8676109	77383154	57623362	148	28456											
SYTL2	54843	genome.wustl.edu	37	chr11	85437481	85437481	+	Intron	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagggattatagacctgttCtgcattgggttcatccattc	9	14	10	8	0	2	2	1	0	1	2	4	3	3	3	2	2	1	3	2	2	2	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:85437481C>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E7K|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.E531K|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.E7K|SYTL2_ENST00000389960.4_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAGACCTGTTCTGCATTGGGT	0.378																																																	0													58	58	58					11																	85437481		2203	4296	6499	SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"chromosome 11 synaptotagmin", "breast cancer-associated antigen SGA-72M", "protein phosphatase 1, regulatory subunit 151"	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1457G>A	11.37:g.85437481C>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.E531K	ENST00000528231.1	37	c.1591	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	4.512	0.094983	0.08681	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.29655	1.58;1.56;1.57	5.91	2.59	0.31030	.	1.168800	0.05935	N	0.635891	T	0.21468	0.0517	N	0.20986	0.625	0.09310	N	1	B;B;B	0.23377	0.084;0.084;0.084	B;B;B	0.21917	0.037;0.037;0.037	T	0.27157	-1.0082	9	.	.	.	-7.5345	7.5396	0.27731	0.0:0.6571:0.1387:0.2043	.	7;7;7	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	K	531;7;7	ENSP00000352065:E531K;ENSP00000346576:E7K;ENSP00000432694:E7K	.	E	-	1	0	SYTL2	85115129	0.945000	0.32115	0.256000	0.24389	0.105000	0.19272	2.300000	0.43620	0.826000	0.34661	-0.175000	0.13238	GAA	SYTL2	-	NULL	ENSG00000137501		0.378	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	-	0	29	0	C	NM_206927		85437481	-1	tier1	-	no_errors	ENST00000359152	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.010	T	T	85437481	C	T	85437481	1	4	100	0	1	0	0	0	0	0	0	0	15530	922	32	3		3	SYTL2	11	85437481	Intron	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	8054327	85437481	49569035	149	28457											
CNTN5	53942	genome.wustl.edu	37	chr11	99942510	99942510	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgctggaatgtatcagtGtttggctgaaaataagtatg	13	13	12	3	0	1	2	1	1	0	1	1	3	1	3	0	2	1	5	0	2	6	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:99942510G>T	ENST00000524871.1	+	12	1663	c.1373G>T	c.(1372-1374)tGt>tTt	p.C458F	CNTN5_ENST00000528682.1_Missense_Mutation_p.C458F|CNTN5_ENST00000418526.2_Missense_Mutation_p.C384F|CNTN5_ENST00000527185.1_Missense_Mutation_p.C458F|CNTN5_ENST00000279463.3_Missense_Mutation_p.C458F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	458	Ig-like C2-type 4.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATGTATCAGTGTTTGGCTGAA	0.348																																																	0													111	106	108					11																	99942510		1882	4147	6029	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1373G>T	11.37:g.99942510G>T	ENSP00000435637:p.Cys458Phe		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.C458F	ENST00000524871.1	37	c.1373	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353061	0.82132	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	H	0.99261	4.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	D	0.99701	1.1004	10	0.87932	D	0	.	18.3469	0.90325	0.0:0.0:1.0:0.0	.	458;384;458	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	F	458;458;458;384;458	ENSP00000433575:C458F;ENSP00000436185:C458F;ENSP00000435637:C458F;ENSP00000393229:C384F;ENSP00000279463:C458F	ENSP00000279463:C458F	C	+	2	0	CNTN5	99447720	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.573000	0.86826	0.655000	0.94253	TGT	CNTN5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000149972		0.348	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0	19	0	G	NM_014361		99942510	1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	33.33	8	4	SNP	1.000	T	T	99942510	G	T	99942510	3	4	100	1	0	0	0	0	1	0	0	0	3651	1377	48	3	1411	3	CNTN5	11	99942510	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	14505029	99942510	35064006	150	28458											
USP28	57646	genome.wustl.edu	37	chr11	113672343	113672343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatcacattaatgccctCagttacggagtgatcatcat	12	13	6	10	1	5	1	5	1	0	0	5	2	5	2	1	1	2	1	1	1	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr11:113672343C>T	ENST00000003302.4	-	24	2988	c.2920G>A	c.(2920-2922)Gag>Aag	p.E974K	USP28_ENST00000545540.1_Missense_Mutation_p.E817K|USP28_ENST00000260188.5_Missense_Mutation_p.E942K|USP28_ENST00000544967.1_Missense_Mutation_p.E650K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	974					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTAATGCCCTCAGTTACGGAG	0.398																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													130	108	115					11																	113672343		2201	4296	6497	SO:0001583	missense	0			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"Ubiquitin-specific peptidases"	12625	protein-coding gene	gene with protein product		610748	"ubiquitin specific protease 28"			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2920G>A	11.37:g.113672343C>T	ENSP00000003302:p.Glu974Lys		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67	p.E974K	ENST00000003302.4	37	c.2920	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066841	0.76301	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.47528	1.4;1.41;0.84;1.42	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.64505	0.2604	L	0.59436	1.845	0.80722	D	1	D;P;D	0.89917	1.0;0.589;1.0	D;B;D	0.91635	0.997;0.222;0.999	T	0.56786	-0.7921	10	0.18276	T	0.48	-25.884	18.7047	0.91633	0.0:1.0:0.0:0.0	.	817;974;650	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	K	974;942;650;817	ENSP00000003302:E974K;ENSP00000260188:E942K;ENSP00000442431:E650K;ENSP00000444991:E817K	ENSP00000003302:E974K	E	-	1	0	USP28	113177553	0.999000	0.42202	0.923000	0.36655	0.911000	0.54048	4.286000	0.58995	2.639000	0.89480	0.585000	0.79938	GAG	USP28	-	NULL	ENSG00000048028		0.398	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	-	0	33	0	C			113672343	-1	tier1	-	no_errors	ENST00000003302	ensembl	human	known	74_37	missense	58.82	14	20	SNP	0.999	T	T	113672343	C	T	113672343	3	4	100	1	0	0	0	0	1	0	0	0	17107	835	29	3	321	3	USP28	11	113672343	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	13729833	113672343	21334173	151	28459											
ATF7IP	55729	genome.wustl.edu	37	chr12	14589100	14589100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaatgtacagtctaaacGtcgtcgatatatggaagaag	15	9	11	6	3	1	1	0	0	1	1	3	4	1	3	0	2	2	1	0	2	8	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:14589100G>T	ENST00000540793.1	+	3	1861	c.1706G>T	c.(1705-1707)cGt>cTt	p.R569L	ATF7IP_ENST00000261168.4_Missense_Mutation_p.R569L|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.R568L|ATF7IP_ENST00000536444.1_Missense_Mutation_p.R568L|ATF7IP_ENST00000544627.1_Missense_Mutation_p.R577L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	569	Glu-rich.|Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGTCTAAACGTCGTCGATAT	0.353																																																	0													118	118	118					12																	14589100		2203	4300	6503	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1706G>T	12.37:g.14589100G>T	ENSP00000444589:p.Arg569Leu		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R569L	ENST00000540793.1	37	c.1706	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943001	0.92526	.	.	ENSG00000171681	ENST00000261168;ENST00000538511;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.40225	1.46;1.04;1.46;1.46;1.46	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	T	0.64560	0.2609	M	0.61703	1.905	0.58432	D	0.999992	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.999;0.994;0.994;0.999;0.999	T	0.65837	-0.6071	10	0.87932	D	0	-10.7714	19.2901	0.94095	0.0:0.0:1.0:0.0	.	577;568;568;569;568;180	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	L	569;8;568;568;577;569	ENSP00000261168:R569L;ENSP00000443179:R568L;ENSP00000445955:R568L;ENSP00000440440:R577L;ENSP00000444589:R569L	ENSP00000261168:R569L	R	+	2	0	ATF7IP	14480367	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	4.786000	0.62425	2.728000	0.93425	0.585000	0.79938	CGT	ATF7IP	-	NULL	ENSG00000171681		0.353	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1		0	21	0	G	NM_018179		14589100	1			no_errors	ENST00000261168	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.996	T	T	14589100	G	T	14589100	3	4	100	1	0	0	0	0	1	0	0	0	1088	1145	40	2	1716	2	ATF7IP	12	14589100	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		14589100	119262795	152	28460											
ABCD2	225	genome.wustl.edu	37	chr12	39967550	39967550	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgttatagacagtaaGgaaattccagccccttttgc	10	13	9	9	0	0	1	0	0	0	1	1	2	1	2	3	1	2	2	3	1	4	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:39967550G>T	ENST00000308666.3	-	9	2106	c.1971C>A	c.(1969-1971)tcC>tcA	p.S657S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	657	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAGACAGTAAGGAAATTCCAG	0.373																																																	0													125	112	116					12																	39967550		2203	4300	6503	SO:0001819	synonymous_variant	0			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"ATP binding cassette transporters / subfamily D"	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1971C>A	12.37:g.39967550G>T			B2RAM3|Q13210|Q2M3H9	Silent	SNP	pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.S657	ENST00000308666.3	37	c.1971	CCDS8734.1	12																																																																																			ABCD2	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000173208		0.373	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	HGNC	protein_coding	OTTHUMT00000403591.1	-	0	40	0	G	NM_005164		39967550	-1	tier1	-	no_errors	ENST00000308666	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T	T	39967550	G	T	39967550	2	4	100	1	0	0	0	0	0	0	0	1	61	987	35	3		3	ABCD2	12	39967550	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	25378450	39967550	93884345	153	28461											
CACNB3	784	genome.wustl.edu	37	chr12	49217550	49217550	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtccagggctctggagtCaactttgaggccaaagattt	10	10	11	10	0	2	2	1	1	1	1	3	3	3	3	3	3	1	1	3	3	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:49217550C>G	ENST00000301050.2	+	3	454	c.255C>G	c.(253-255)gtC>gtG	p.V85V	CACNB3_ENST00000547392.1_Silent_p.V85V|CACNB3_ENST00000536187.2_Silent_p.V84V|CACNB3_ENST00000540990.1_Silent_p.V72V|CACNB3_ENST00000550168.1_3'UTR|CACNB3_ENST00000547230.1_Intron	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	85	SH3.				axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTGGAGTCAACTTTGAGG	0.502																																																	0													109	108	109					12																	49217550		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"Calcium channel subunits"	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.255C>G	12.37:g.49217550C>G			A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Silent	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.V85	ENST00000301050.2	37	c.255	CCDS8769.1	12																																																																																			CACNB3	-	superfamily_SH3_domain	ENSG00000167535		0.502	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	-	0	63	0	C			49217550	1	tier1	-	no_errors	ENST00000301050	ensembl	human	known	74_37	silent	32.61	31	15	SNP	1.000	G	G	49217550	C	G	49217550	2	3	100	1	0	0	0	0	0	0	0	1	2561	813	29	5		5	CACNB3	12	49217550	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	9250000	49217550	84634345	154	28462											
HOXC4	3221	genome.wustl.edu	37	chr12	54447759	54447759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatcgatccgaaatttcCtccatgcgaagaatattcgc	12	11	6	12	4	0	1	0	0	0	1	5	4	3	1	3	0	2	0	3	0	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:54447759C>A	ENST00000430889.2	+	1	99	c.53C>A	c.(52-54)cCt>cAt	p.P18H	HOXC4_ENST00000303406.4_Missense_Mutation_p.P18H|HOXC4_ENST00000609810.1_Missense_Mutation_p.P18H	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	18					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CCGAAATTTCCTCCATGCGAA	0.438																																																	0													112	111	112					12																	54447759		2203	4300	6503	SO:0001583	missense	0				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"Homeoboxes / ANTP class : HOXL subclass"	5126	protein-coding gene	gene with protein product		142974	"homeo box C4"	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.53C>A	12.37:g.54447759C>A	ENSP00000399808:p.Pro18His			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.P18H	ENST00000430889.2	37	c.53	CCDS8873.1	12	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691386	0.68271	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.69435	-0.4;-0.4	3.41	3.41	0.39046	.	0.204002	0.42053	D	0.000771	D	0.84875	0.5569	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89109	0.3495	10	0.87932	D	0	.	14.7795	0.69754	0.0:1.0:0.0:0.0	.	18	P09017	HXC4_HUMAN	H	18	ENSP00000305973:P18H;ENSP00000399808:P18H	ENSP00000305973:P18H	P	+	2	0	HOXC4	52734026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.240000	0.78192	2.187000	0.69744	0.462000	0.41574	CCT	HOXC4	-	NULL	ENSG00000273266		0.438	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC4	Uniprot_gn	protein_coding	OTTHUMT00000358963.1	-	0	61	0	C			54447759	1	tier1	-	no_errors	ENST00000430889	ensembl	human	known	74_37	missense	37.04	34	20	SNP	1.000	A	A	54447759	C	A	54447759	3	1	100	1	0	0	0	0	1	0	0	0	7340	681	24	3	55	3	HOXC4	12	54447759	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	5230209	54447759	79404136	155	28463											
PRIM1	5557	genome.wustl.edu	37	chr12	57140622	57140622	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	catgagggtccagcacttagGacatatgtctgcagaactaa	13	9	10	9	0	1	2	0	1	1	1	2	3	2	3	1	2	3	2	1	2	4	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:57140622G>C	ENST00000338193.6	-	4	421	c.385C>G	c.(385-387)Cct>Gct	p.P129A	PRIM1_ENST00000552408.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	129					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						CAGCACTTAGGACATATGTCT	0.463																																																	0													170	157	161					12																	57140622		2108	4225	6333	SO:0001583	missense	0			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.385C>G	12.37:g.57140622G>C	ENSP00000350491:p.Pro129Ala			Missense_Mutation	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.P129A	ENST00000338193.6	37	c.385	CCDS44926.1	12	.	.	.	.	.	.	.	.	.	.	G	2.647	-0.282739	0.05642	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.41065	1.01;1.01	4.53	2.22	0.28083	.	0.235140	0.44902	D	0.000408	T	0.27169	0.0666	L	0.40543	1.245	0.31284	N	0.690211	B;B	0.14438	0.01;0.001	B;B	0.18561	0.022;0.01	T	0.26950	-1.0088	10	0.09843	T	0.71	-5.4146	7.0641	0.25141	0.722:0.0:0.278:0.0	.	129;129	F8VSB2;P49642	.;PRI1_HUMAN	A	129;129;132	ENSP00000350491:P129A;ENSP00000450185:P132A	ENSP00000350491:P129A	P	-	1	0	PRIM1	55426889	1.000000	0.71417	0.818000	0.32626	0.952000	0.60782	2.671000	0.46842	0.514000	0.28300	-0.312000	0.09012	CCT	PRIM1	-	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	ENSG00000198056		0.463	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	-	0	82	0	G	NM_000946		57140622	-1	tier1	-	no_errors	ENST00000338193	ensembl	human	known	74_37	missense	44.83	48	39	SNP	0.923	C	C	57140622	G	C	57140622	3	2	100	1	0	0	0	0	1	0	0	0	12532	1174	41	5	917	5	PRIM1	12	57140622	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2692863	57140622	76711273	156	28464											
SLC16A7	9194	genome.wustl.edu	37	chr12	60173438	60173438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgcacagagtgtaacctCagaaagagaaactaacattt	19	8	7	7	0	1	3	1	0	0	3	1	4	1	3	1	0	4	2	1	0	5	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:60173438C>T	ENST00000261187.4	+	5	1579	c.1415C>T	c.(1414-1416)tCa>tTa	p.S472L	SLC16A7_ENST00000543448.1_Missense_Mutation_p.S373L|SLC16A7_ENST00000547379.1_Missense_Mutation_p.S472L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.S472L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.S472L	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	472					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	AGTGTAACCTCAGAAAGAGAA	0.328																																																	0													69	68	68					12																	60173438		2203	4298	6501	SO:0001583	missense	0			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"Solute carriers"	10928	protein-coding gene	gene with protein product		603654	"solute carrier family 16 (monocarboxylic acid transporters), member 7"			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1415C>T	12.37:g.60173438C>T	ENSP00000261187:p.Ser472Leu		Q8NEM3|Q9UPB3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.S472L	ENST00000261187.4	37	c.1415	CCDS8961.1	12	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067896	0.55539	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000552024;ENST00000261187;ENST00000543448	T;T;T;T;T	0.18657	2.33;2.33;2.33;2.33;2.2	5.22	5.22	0.72569	.	2.110390	0.02163	N	0.058977	T	0.34366	0.0895	M	0.68952	2.095	0.43417	D	0.995566	B	0.12630	0.006	B	0.08055	0.003	T	0.41574	-0.9501	9	.	.	.	.	19.1201	0.93360	0.0:1.0:0.0:0.0	.	472	O60669	MOT2_HUMAN	L	472;472;472;472;373	ENSP00000449547:S472L;ENSP00000448071:S472L;ENSP00000448742:S472L;ENSP00000261187:S472L;ENSP00000443731:S373L	.	S	+	2	0	SLC16A7	58459705	1.000000	0.71417	0.964000	0.40570	0.787000	0.44495	5.239000	0.65371	2.592000	0.87571	0.591000	0.81541	TCA	SLC16A7	-	NULL	ENSG00000118596		0.328	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A7	HGNC	protein_coding	OTTHUMT00000406587.1	-	0	40	0	C	NM_004731		60173438	1	tier1	-	no_errors	ENST00000261187	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T	T	60173438	C	T	60173438	3	4	100	1	0	0	0	0	1	0	0	0	14458	838	29	3	1429	3	SLC16A7	12	60173438	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	3032816	60173438	73678457	157	28465											
CCT2	10576	genome.wustl.edu	37	chr12	69980553	69980553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcttttattggtgccatCgccattggagacttggtaaa	9	15	9	8	1	1	1	0	0	1	1	2	2	1	1	2	3	1	1	2	3	3	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:69980553C>T	ENST00000299300.6	+	3	287	c.99C>T	c.(97-99)atC>atT	p.I33I	CCT2_ENST00000544368.2_Silent_p.I33I|MIR3913-2_ENST00000577744.1_RNA|CCT2_ENST00000543146.2_5'UTR	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	33					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.I33I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGGTGCCATCGCCATTGGAG	0.338																																																	1	Substitution - coding silent(1)	endometrium(1)											135	149	145					12																	69980553		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"Heat Shock Proteins / Chaperonins"	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.99C>T	12.37:g.69980553C>T			A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta	p.I33	ENST00000299300.6	37	c.99	CCDS8991.1	12																																																																																			CCT2	-	superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_beta	ENSG00000166226		0.338	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT2	HGNC	protein_coding	OTTHUMT00000403818.1	-	0	72	0	C	NM_006431		69980553	1	tier1	-	no_errors	ENST00000299300	ensembl	human	known	74_37	silent	33.33	30	15	SNP	0.974	T	T	69980553	C	T	69980553	2	4	100	1	0	0	0	0	0	0	0	1	2960	874	31	1		1	CCT2	12	69980553	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	9807115	69980553	63871342	158	28466											
TRHDE	29953	genome.wustl.edu	37	chr12	72956810	72956810	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaactaaagcacttaaacttCagaataacaggtatgacatt	19	10	5	7	0	1	2	1	1	0	1	1	2	1	2	0	1	4	2	0	1	8	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:72956810C>T	ENST00000261180.4	+	9	1993	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	633					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTTAAACTTCAGAATAACAG	0.274																																																	0													74	80	78					12																	72956810		2203	4292	6495	SO:0001587	stop_gained	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"pyroglutamyl-peptidase II", "pyroglutamyl aminopeptidase II", "TRH-specific aminopeptidase"	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1897C>T	12.37:g.72956810C>T	ENSP00000261180:p.Gln633*		A5PL19|Q6UWJ4	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Q633*	ENST00000261180.4	37	c.1897	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	37	5.992750	0.97179	.	.	ENSG00000072657	ENST00000261180	.	.	.	6.17	5.27	0.74061	.	1.137960	0.06297	N	0.700240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	9.3126	0.37915	0.1174:0.6239:0.2588:0.0	.	.	.	.	X	633	.	ENSP00000261180:Q633X	Q	+	1	0	TRHDE	71243077	0.967000	0.33354	0.977000	0.42913	0.498000	0.33706	1.145000	0.31577	2.941000	0.99782	0.655000	0.94253	CAG	TRHDE	-	NULL	ENSG00000072657		0.274	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1		0	17	0	C	NM_013381		72956810	1			no_errors	ENST00000261180	ensembl	human	known	74_37	nonsense	29.41	12	5	SNP	0.925	T	T	72956810	C	T	72956810	4	4	100	1	0	0	0	0	0	1	0	0	16527	827	29	3	1931	3	TRHDE	12	72956810	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2976257	72956810	60895085	159	28467											
C12orf26	84190	genome.wustl.edu	37	chr12	82780586	82780586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttcacttttttaggtatGactgattttcccaaaatatt	10	19	5	7	0	2	2	1	2	1	0	3	2	3	2	1	1	0	1	1	1	5	9	rs558856672		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:82780586G>C	ENST00000248306.3	+	2	333	c.264G>C	c.(262-264)atG>atC	p.M88I	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	88							methyltransferase activity (GO:0008168)										TTTTAGGTATGACTGATTTTC	0.318																																																	0													65	67	66					12																	82780586		2203	4299	6502	SO:0001583	missense	0			BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 26"	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.264G>C	12.37:g.82780586G>C	ENSP00000248306:p.Met88Ile		Q9H5Y3	Missense_Mutation	SNP	NULL	p.M88I	ENST00000248306.3	37	c.264	CCDS9024.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.026|0.026	-1.374140|-1.374140	0.01214|0.01214	.|.	.|.	ENSG00000127720|ENSG00000127720	ENST00000248306;ENST00000548200|ENST00000550058	T|.	0.28454|.	1.61|.	5.39|5.39	3.14|3.14	0.36123|0.36123	.|.	1.208660|.	0.05641|.	N|.	0.583410|.	T|.	0.08537|.	0.0212|.	N|N	0.01048|0.01048	-1.04|-1.04	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.32188|.	-0.9916|.	10|.	0.17832|.	T|.	0.49|.	-0.1365|-0.1365	4.9705|4.9705	0.14113|0.14113	0.0:0.1043:0.2273:0.6684|0.0:0.1043:0.2273:0.6684	.|.	88|.	Q8N6Q8|.	CL026_HUMAN|.	I|S	88|47	ENSP00000248306:M88I|.	ENSP00000248306:M88I|.	M|X	+|+	3|2	0|2	C12orf26|C12orf26	81304717|81304717	0.007000|0.007000	0.16637|0.16637	0.009000|0.009000	0.14445|0.14445	0.167000|0.167000	0.22549|0.22549	0.787000|0.787000	0.26858|0.26858	0.561000|0.561000	0.29186|0.29186	0.650000|0.650000	0.86243|0.86243	ATG|TGA	METTL25	-	NULL	ENSG00000127720		0.318	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL25	HGNC	protein_coding	OTTHUMT00000408192.1	-	0	27	0	G	NM_032230		82780586	1	tier1	-	no_errors	ENST00000248306	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.009	C	C	82780586	G	C	82780586	3	2	100	1	0	0	0	0	1	0	0	0	1684	1290	45	5	270	5	C12orf26	12	82780586	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	9823776	82780586	51071309	160	28468											
TXNRD1	7296	genome.wustl.edu	37	chr12	104742133	104742133	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctcttcccctgcaggtAttcacaacattgtctgtgac	7	15	6	13	0	3	1	1	1	2	0	5	1	4	1	2	1	2	2	2	1	2	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:104742133A>G	ENST00000529546.1	+	14	1545	c.1320A>G	c.(1318-1320)gtA>gtG	p.V440V	TXNRD1_ENST00000526950.1_Silent_p.V547V|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000354940.6_Silent_p.V478V|TXNRD1_ENST00000525566.1_Silent_p.V628V|TXNRD1_ENST00000524698.1_Silent_p.V478V|TXNRD1_ENST00000427956.1_Silent_p.V593V|TXNRD1_ENST00000542918.1_Silent_p.V528V|TXNRD1_ENST00000429002.2_Silent_p.V628V|TXNRD1_ENST00000388854.3_Silent_p.V530V|TXNRD1_ENST00000540716.1_Silent_p.V440V|TXNRD1_ENST00000526390.1_Silent_p.V522V|TXNRD1_ENST00000503506.2_Silent_p.V478V|TXNRD1_ENST00000397736.2_Silent_p.V522V|TXNRD1_ENST00000526691.1_Silent_p.V530V			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	628					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CCCTGCAGGTATTCACAACAT	0.488																																					Ovarian(139;555 1836 9186 9946 10884)												0													156	148	151					12																	104742133		1973	4169	6142	SO:0001819	synonymous_variant	0				CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.1320A>G	12.37:g.104742133A>G			B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.V628	ENST00000529546.1	37	c.1884	CCDS58274.1	12																																																																																			TXNRD1	-	pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000198431		0.488	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	TXNRD1	HGNC	protein_coding	OTTHUMT00000389969.1	-	0	59	0	A	NM_003330		104742133	1	tier1	-	no_errors	ENST00000429002	ensembl	human	known	74_37	silent	25.00	45	15	SNP	0.256	G	G	104742133	A	G	104742133	2	3	100	1	0	0	0	0	0	0	0	1	16856	436	16	4		4	TXNRD1	12	104742133	Silent	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	21961547	104742133	29109762	161	28469											
PTPN11	5781	genome.wustl.edu	37	chr12	112924299	112924299	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatacggagagaacggtCtggcaataccactttcggac	12	7	13	9	3	1	1	0	0	1	1	2	5	1	4	1	5	3	1	1	5	5	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:112924299C>A	ENST00000351677.2	+	11	1443	c.1245C>A	c.(1243-1245)gtC>gtA	p.V415V	PTPN11_ENST00000392597.1_Silent_p.V415V	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	419	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		T -> M (in NS1). {ECO:0000269|PubMed:15384080}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AGAGAACGGTCTGGCAATACC	0.537			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0													56	56	56					12																	112924299		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1245C>A	12.37:g.112924299C>A			A8K1D9|Q96HD7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.V415	ENST00000351677.2	37	c.1245	CCDS9163.1	12																																																																																			PTPN11	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000179295		0.537	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	HGNC	protein_coding	OTTHUMT00000259496.2	-	0	34	0	C			112924299	1	tier1	-	no_errors	ENST00000351677	ensembl	human	known	74_37	silent	38.89	22	14	SNP	0.984	A	A	112924299	C	A	112924299	2	1	100	1	0	0	0	0	0	0	0	1	12823	900	32	3		3	PTPN11	12	112924299	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	8182166	112924299	20927596	162	28470											
PXN	5829	genome.wustl.edu	37	chr12	120651990	120651990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaagtgttcagggtGccacgtccggtcaagggctg	10	7	15	9	2	2	2	2	0	0	2	3	2	3	2	2	3	1	2	2	3	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:120651990G>A	ENST00000228307.7	-	10	1450	c.1309C>T	c.(1309-1311)Cac>Tac	p.H437Y	PXN_ENST00000267257.7_Missense_Mutation_p.H451Y|PXN-AS1_ENST00000539446.1_RNA|PXN_ENST00000424649.2_Missense_Mutation_p.H403Y|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000397506.3_Missense_Mutation_p.H249Y|PXN_ENST00000458477.2_Missense_Mutation_p.H270Y|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000536957.1_Missense_Mutation_p.H435Y|PXN-AS1_ENST00000542265.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	437	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTCAGGGTGCCACGTCCGG	0.597																																																	0													30	33	32					12																	120651990		1905	3921	5826	SO:0001583	missense	0			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1309C>T	12.37:g.120651990G>A	ENSP00000228307:p.His437Tyr		B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin	p.H451Y	ENST00000228307.7	37	c.1351	CCDS44997.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.387554	0.95988	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000397506;ENST00000331257;ENST00000541856	D;D;D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99;-3.99;-3.99	5.63	5.63	0.86233	Zinc finger, LIM-type (5);	.	.	.	.	D	0.99171	0.9713	H	0.99600	4.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98696	1.0698	9	0.87932	D	0	.	19.6972	0.96030	0.0:0.0:1.0:0.0	.	403;451;249;437	P49023-2;P49023-3;E7EMK8;P49023	.;.;.;PAXI_HUMAN	Y	270;437;403;435;451;249;65;162	ENSP00000395536:H270Y;ENSP00000228307:H437Y;ENSP00000391283:H403Y;ENSP00000443887:H435Y;ENSP00000267257:H451Y;ENSP00000380643:H249Y	ENSP00000228307:H437Y	H	-	1	0	PXN	119136373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.677000	0.98645	2.663000	0.90544	0.650000	0.86243	CAC	PXN	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000089159		0.597	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	-	0	42	0	G	NM_002859		120651990	-1	tier1	-	no_errors	ENST00000267257	ensembl	human	known	74_37	missense	46.15	27	24	SNP	1.000	A	A	120651990	G	A	120651990	3	1	100	1	0	0	0	0	1	0	0	0	12897	1319	46	3	478	3	PXN	12	120651990	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	7727691	120651990	13199905	163	28471											
KNTC1	9735	genome.wustl.edu	37	chr12	123030788	123030788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaggaatgacagttaaGaaccttattgatgcagagat	18	9	10	4	0	0	5	0	2	0	3	0	7	0	6	1	1	2	2	1	1	6	3	rs7968222	byFrequency	TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr12:123030788G>A	ENST00000333479.7	+	9	912	c.735G>A	c.(733-735)aaG>aaA	p.K245K	KNTC1_ENST00000450485.2_Silent_p.K208K	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	245			K -> N (in dbSNP:rs7968222).		mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGACAGTTAAGAACCTTATTG	0.308																																																	0													52	50	50					12																	123030788		1812	4073	5885	SO:0001819	synonymous_variant	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"rough deal homolog (Drosophila)"	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.735G>A	12.37:g.123030788G>A			A7E2C4|B3KSG2	Silent	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.K245	ENST00000333479.7	37	c.735	CCDS45002.1	12																																																																																			KNTC1	-	superfamily_WD40_repeat_dom	ENSG00000184445		0.308	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0	56	0	G			123030788	1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	silent	27.12	43	16	SNP	1.000	A	A	123030788	G	A	123030788	2	1	100	1	0	0	0	0	0	0	0	1	8455	933	33	3		3	KNTC1	12	123030788	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2378798	123030788	10821107	164	28472											
SACS	26278	genome.wustl.edu	37	chr13	23913508	23913508	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagattctctcttatgtccaTatttcttctcatatcaatca	10	18	3	10	0	6	1	3	0	4	1	9	2	7	1	1	0	0	0	1	0	4	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr13:23913508T>C	ENST00000382292.3	-	9	4780	c.4507A>G	c.(4507-4509)Atg>Gtg	p.M1503V	SACS_ENST00000402364.1_Missense_Mutation_p.M753V|SACS_ENST00000382298.3_Missense_Mutation_p.M1503V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1503					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTTATGTCCATATTTCTTCTC	0.378																																																	0													60	56	57					13																	23913508		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4507A>G	13.37:g.23913508T>C	ENSP00000371729:p.Met1503Val		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.M1503V	ENST00000382292.3	37	c.4507	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	8.815	0.936249	0.18206	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87334	-2.24;-2.24;-2.24	5.96	5.96	0.96718	ATPase-like, ATP-binding domain (2);	0.178665	0.64402	D	0.000009	T	0.76256	0.3962	N	0.08118	0	0.25968	N	0.982537	B	0.12630	0.006	B	0.11329	0.006	T	0.62338	-0.6875	10	0.27082	T	0.32	.	16.4343	0.83869	0.0:0.0:0.0:1.0	.	1503	Q9NZJ4	SACS_HUMAN	V	1503;753;1503	ENSP00000371729:M1503V;ENSP00000385844:M753V;ENSP00000371735:M1503V	ENSP00000371729:M1503V	M	-	1	0	SACS	22811508	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.926000	0.40084	2.285000	0.76669	0.528000	0.53228	ATG	SACS	-	superfamily_HATPase_ATP-bd	ENSG00000151835		0.378	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	38	0	T	NM_014363		23913508	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	47.83	12	11	SNP	1.000	C	C	23913508	T	C	23913508	3	2	100	1	0	0	0	0	1	0	0	0	13849	1406	49	4	9236	4	SACS	13	23913508	Missense_Mutation	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09		23913508	91256370	165	28473											
SCEL	8796	genome.wustl.edu	37	chr13	78191993	78191993	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagtaatcagaaacaatCagaggtatatatagaagcag	18	8	9	6	0	2	3	2	0	0	3	2	3	2	3	0	1	3	4	0	1	8	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr13:78191993C>T	ENST00000349847.3	+	26	1651	c.1567C>T	c.(1567-1569)Cag>Tag	p.Q523*	SCEL_ENST00000377246.3_Nonsense_Mutation_p.Q503*|SCEL_ENST00000535157.1_Nonsense_Mutation_p.Q481*	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	523	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAGAAACAATCAGAGGTATAT	0.333																																																	0													82	88	86					13																	78191993		2202	4300	6502	SO:0001587	stop_gained	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1567C>T	13.37:g.78191993C>T	ENSP00000302579:p.Gln523*		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Nonsense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.Q523*	ENST00000349847.3	37	c.1567	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	C	33	5.284254	0.95517	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	.	.	.	5.93	5.04	0.67666	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8752	12.2762	0.54737	0.0:0.8301:0.1699:0.0	.	.	.	.	X	481;503;523	.	ENSP00000302579:Q523X	Q	+	1	0	SCEL	77089994	0.995000	0.38212	0.985000	0.45067	0.795000	0.44927	1.970000	0.40520	2.826000	0.97356	0.655000	0.94253	CAG	SCEL	-	NULL	ENSG00000136155		0.333	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	-	0	22	0	C	NM_144777		78191993	1	tier1	-	no_errors	ENST00000349847	ensembl	human	known	74_37	nonsense	41.94	18	13	SNP	0.972	T	T	78191993	C	T	78191993	4	4	100	1	0	0	0	0	0	1	0	0	13933	827	29	3	1665	3	SCEL	13	78191993	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	54278485	78191993	36977885	166	28474											
OR4N2	390429	genome.wustl.edu	37	chr14	20295898	20295898	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataatctcctacagaggctgCatcactcagctctttttctt	9	15	5	12	0	5	1	2	0	3	1	6	1	5	1	1	1	3	3	1	1	2	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:20295898C>T	ENST00000315947.1	+	1	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C	OR4N2_ENST00000568211.1_Silent_p.C97C	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGAGGCTGCATCACTCAGC	0.537																																																	0													124	140	135					14																	20295898		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"GPCR / Class A : Olfactory receptors"	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.291C>T	14.37:g.20295898C>T			Q6IEY9|Q6IFA2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C97	ENST00000315947.1	37	c.291	CCDS32022.1	14																																																																																			OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000176294		0.537	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0	144	0	C			20295898	1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	silent	20.90	140	37	SNP	1.000	T	T	20295898	C	T	20295898	2	4	100	1	0	0	0	0	0	0	0	1	11116	718	25	3		3	OR4N2	14	20295898	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09		20295898	87053642	167	28475											
OR4K1	79544	genome.wustl.edu	37	chr14	20404053	20404053	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatctgtcagtctaacttTgccacccccaagatgcttgt	9	13	7	12	0	3	1	1	0	2	1	3	2	3	1	3	0	3	1	3	0	3	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:20404053T>C	ENST00000285600.4	+	1	287	c.228T>C	c.(226-228)ttT>ttC	p.F76F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGTCTAACTTTGCCACCCCCA	0.383																																																	0													213	224	220					14																	20404053		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.228T>C	14.37:g.20404053T>C			B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F76	ENST00000285600.4	37	c.228	CCDS32025.1	14																																																																																			OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000155249		0.383	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0	96	0	T			20404053	1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	silent	20.69	69	18	SNP	0.870	C	C	20404053	T	C	20404053	2	2	100	1	0	0	0	0	0	0	0	1	11106	1809	63	4		4	OR4K1	14	20404053	Silent	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09	108155	20404053	86945487	168	28476											
CHD8	57680	genome.wustl.edu	37	chr14	21861740	21861740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcttgctcaagtccagctCagagtccgaatcatcctcat	10	10	7	14	1	4	1	4	0	0	1	7	2	7	1	3	0	3	3	3	0	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:21861740C>G	ENST00000557364.1	-	32	6477	c.6214G>C	c.(6214-6216)Gag>Cag	p.E2072Q	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.E1793Q|CHD8_ENST00000399982.2_Missense_Mutation_p.E2072Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2072	Ser-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGTCCAGCTCAGAGTCCGAA	0.507																																																	0													42	44	43					14																	21861740		2090	4216	6306	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"helicase with SNF2 domain 1"	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6214G>C	14.37:g.21861740C>G	ENSP00000451601:p.Glu2072Gln		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E2072Q	ENST00000557364.1	37	c.6214	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615446	0.46631	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.89196	-2.47;-2.48;-2.48	5.11	5.11	0.69529	.	0.174169	0.49916	D	0.000124	D	0.87561	0.6208	N	0.08118	0	0.39077	D	0.960837	D	0.54772	0.968	D	0.70487	0.969	D	0.87914	0.2699	10	0.32370	T	0.25	-17.5755	15.5697	0.76323	0.0:1.0:0.0:0.0	.	1793	Q9HCK8-2	.	Q	1793;2072;1792;2072	ENSP00000406288:E1793Q;ENSP00000382863:E2072Q;ENSP00000451601:E2072Q	ENSP00000262707:E1792Q	E	-	1	0	CHD8	20931580	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.022000	0.57203	2.659000	0.90383	0.563000	0.77884	GAG	CHD8	-	NULL	ENSG00000100888		0.507	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0	25	0	C	NM_020920		21861740	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	G	G	21861740	C	G	21861740	3	3	100	1	0	0	0	0	1	0	0	0	3338	835	29	5	1559	5	CHD8	14	21861740	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1457687	21861740	85487800	169	28477											
MYH7	4625	genome.wustl.edu	37	chr14	23886443	23886443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttcttgagtttgaagagctCtgtgctgagggagcgagcct	7	12	15	7	1	2	4	0	3	2	1	2	6	2	5	1	1	4	4	1	1	1	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:23886443C>G	ENST00000355349.3	-	32	4600	c.4438G>C	c.(4438-4440)Gag>Cag	p.E1480Q	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1480					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGAAGAGCTCTGTGCTGAGG	0.587																																																	0													106	109	108					14																	23886443		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"Myosins / Myosin superfamily : Class II"	7577	protein-coding gene	gene with protein product		160760	"myopathy, distal 1", "myosin, heavy polypeptide 7, cardiac muscle, beta"	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4438G>C	14.37:g.23886443C>G	ENSP00000347507:p.Glu1480Gln		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1480Q	ENST00000355349.3	37	c.4438	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.109195	0.94292	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.84516	-1.86	5.27	5.27	0.74061	Myosin tail (1);	.	.	.	.	D	0.94997	0.8381	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95845	0.8869	9	0.66056	D	0.02	.	19.0892	0.93219	0.0:1.0:0.0:0.0	.	1480	P12883	MYH7_HUMAN	Q	1480;1485	ENSP00000347507:E1480Q	ENSP00000347507:E1480Q	E	-	1	0	MYH7	22956283	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.314000	0.78988	2.746000	0.94184	0.591000	0.81541	GAG	MYH7	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000092054		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0	35	0	C	NM_000257		23886443	-1	tier1	-	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	G	G	23886443	C	G	23886443	3	3	100	1	0	0	0	0	1	0	0	0	10077	922	32	5	1405	5	MYH7	14	23886443	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2024703	23886443	83463097	170	28478											
LTB4R	1241	genome.wustl.edu	37	chr14	24785316	24785316	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgctggccacacccgtcctCgcgtaccgcacagtagtgcc	6	7	10	18	4	0	0	0	0	0	0	2	0	1	0	5	1	3	4	5	1	2	2	rs375670032		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:24785316C>G	ENST00000396789.4	+	2	2184	c.459C>G	c.(457-459)ctC>ctG	p.L153L	LTB4R_ENST00000396782.2_Silent_p.L153L|LTB4R_ENST00000345363.3_Silent_p.L153L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	153					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CACCCGTCCTCGCGTACCGCA	0.637																																																	0													60	60	60					14																	24785316		2203	4300	6503	SO:0001819	synonymous_variant	0			X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"GPCR / Class A : Leukotriene receptors"	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.459C>G	14.37:g.24785316C>G			Q13305|Q53XV5|Q92641|Q9BSU5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-1_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn	p.L153	ENST00000396789.4	37	c.459	CCDS9626.1	14																																																																																			LTB4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000213903		0.637	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LTB4R	HGNC	protein_coding	OTTHUMT00000073198.4	-	0	22	0	C			24785316	1	tier1	-	no_errors	ENST00000345363	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.000	G	G	24785316	C	G	24785316	2	3	100	1	0	0	0	0	0	0	0	1	9106	871	31	5		5	LTB4R	14	24785316	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	898873	24785316	82564224	171	28479											
SRP54	6729	genome.wustl.edu	37	chr14	35480717	35480717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtccatgttatatagctAtacagaaatggatcctgtca	12	15	7	7	0	1	1	1	0	0	1	3	2	3	2	2	1	2	2	2	1	6	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:35480717A>G	ENST00000556994.1	+	9	885	c.488A>G	c.(487-489)tAt>tGt	p.Y163C	SRP54_ENST00000555557.1_Missense_Mutation_p.Y99C|SRP54_ENST00000546080.1_Missense_Mutation_p.Y114C|SRP54_ENST00000216774.6_Missense_Mutation_p.Y163C			P61011	SRP54_HUMAN	signal recognition particle 54kDa	163	G-domain.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition (GO:0006617)|SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|drug binding (GO:0008144)|endoplasmic reticulum signal peptide binding (GO:0030942)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		TTATATAGCTATACAGAAATG	0.294																																																	0													67	72	71					14																	35480717		2202	4295	6497	SO:0001583	missense	0			X86373	CCDS9652.1, CCDS53893.1	14q13.2	2014-06-02	2002-08-29		ENSG00000100883	ENSG00000100883			11301	protein-coding gene	gene with protein product		604857	"signal recognition particle 54kD"			8722571	Standard	NM_003136		Approved		uc001wso.3	P61011	OTTHUMG00000140214	ENST00000556994.1:c.488A>G	14.37:g.35480717A>G	ENSP00000451818:p.Tyr163Cys		B2R759|B4DUW6|P13624	Missense_Mutation	SNP	pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	p.Y163C	ENST00000556994.1	37	c.488	CCDS9652.1	14	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293376	0.80914	.	.	ENSG00000100883	ENST00000556994;ENST00000216774;ENST00000546080;ENST00000555557	.	.	.	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	T	0.80215	0.4582	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.80683	-0.1273	9	0.38643	T	0.18	-19.4471	15.8921	0.79305	1.0:0.0:0.0:0.0	.	114;163	B4DUW6;P61011	.;SRP54_HUMAN	C	163;163;114;99	.	ENSP00000216774:Y163C	Y	+	2	0	SRP54	34550468	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.108000	0.94275	2.162000	0.67917	0.482000	0.46254	TAT	SRP54	-	pfam_SRP54_GTPase_dom,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk	ENSG00000100883		0.294	SRP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP54	HGNC	protein_coding	OTTHUMT00000276643.2	-	0	39	0	A	NM_003136		35480717	1	tier1	-	no_errors	ENST00000216774	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	G	G	35480717	A	G	35480717	3	3	100	1	0	0	0	0	1	0	0	0	15202	449	16	4	514	4	SRP54	14	35480717	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	10695401	35480717	71868823	172	28480											
RPL10L	140801	genome.wustl.edu	37	chr14	47120593	47120593	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggggttttccaaaggcacctCgcatacctgtctggagcctg	7	10	12	12	1	1	0	0	0	1	0	3	1	2	1	4	4	2	3	4	4	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:47120593C>G	ENST00000298283.3	-	1	435	c.347G>C	c.(346-348)cGa>cCa	p.R116P		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	116					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AAAGGCACCTCGCATACCTGT	0.547																																																	0													59	59	59					14																	47120593		2203	4300	6503	SO:0001583	missense	0			AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"L ribosomal proteins"	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.347G>C	14.37:g.47120593C>G	ENSP00000298283:p.Arg116Pro		Q8IUD1	Missense_Mutation	SNP	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	p.R116P	ENST00000298283.3	37	c.347	CCDS32071.1	14	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225880	0.79576	.	.	ENSG00000165496	ENST00000298283	T	0.79454	-1.27	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);Ribosomal protein L10e, conserved site (1);	0.060898	0.64402	D	0.000003	D	0.89276	0.6669	H	0.99847	4.84	0.80722	D	1	B	0.09022	0.002	B	0.28638	0.092	D	0.90167	0.4232	10	0.87932	D	0	-12.4334	15.1202	0.72438	0.0:1.0:0.0:0.0	.	116	Q96L21	RL10L_HUMAN	P	116	ENSP00000298283:R116P	ENSP00000298283:R116P	R	-	2	0	RPL10L	46190343	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	6.929000	0.75852	2.688000	0.91661	0.655000	0.94253	CGA	RPL10L	-	pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e	ENSG00000165496		0.547	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10L	HGNC	protein_coding	OTTHUMT00000349819.1	-	0	72	0	C			47120593	-1	tier1	-	no_errors	ENST00000298283	ensembl	human	known	74_37	missense	26.79	41	15	SNP	1.000	G	G	47120593	C	G	47120593	3	3	100	1	0	0	0	0	1	0	0	0	13601	884	31	5	301	5	RPL10L	14	47120593	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	11639876	47120593	60228947	173	28481											
DLGAP5	9787	genome.wustl.edu	37	chr14	55642728	55642728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttcttttgttgcttgaGactcatcactaaaaacaata	15	15	4	7	0	3	1	2	1	1	1	3	2	3	1	0	0	2	2	0	0	6	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:55642728G>A	ENST00000247191.2	-	9	1274	c.1058C>T	c.(1057-1059)tCt>tTt	p.S353F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S353F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	353					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTGCTTGAGACTCATCACT	0.323																																																	0													127	121	123					14																	55642728		2203	4297	6500	SO:0001583	missense	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"discs, large homolog 7 (Drosophila)"	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1058C>T	14.37:g.55642728G>A	ENSP00000247191:p.Ser353Phe		A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	pfam_GKAP	p.S353F	ENST00000247191.2	37	c.1058	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646526	0.29246	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.19105	2.17;2.17	4.47	1.58	0.23477	.	6.758430	0.00166	N	0.000012	T	0.20210	0.0486	L	0.34521	1.04	0.25502	N	0.987543	P;P	0.41313	0.745;0.611	B;B	0.42245	0.381;0.295	T	0.13442	-1.0509	10	0.54805	T	0.06	.	4.2665	0.10766	0.2061:0.1915:0.6024:0.0	.	353;353	A8MTM6;Q15398	.;DLGP5_HUMAN	F	353	ENSP00000378815:S353F;ENSP00000247191:S353F	ENSP00000247191:S353F	S	-	2	0	DLGAP5	54712481	0.747000	0.28283	0.593000	0.28771	0.893000	0.52053	0.969000	0.29370	0.370000	0.24538	0.585000	0.79938	TCT	DLGAP5	-	pfam_GKAP	ENSG00000126787		0.323	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	-	0	57	0	G	NM_014750		55642728	-1	tier1	-	no_errors	ENST00000247191	ensembl	human	known	74_37	missense	26.53	36	13	SNP	0.774	A	A	55642728	G	A	55642728	3	1	100	1	0	0	0	0	1	0	0	0	4577	942	33	3	1621	3	DLGAP5	14	55642728	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	8522135	55642728	51706812	174	28482											
JKAMP	729665	genome.wustl.edu	37	chr14	59970584	59970584	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatatagaactgctatgatCttctggtcagaaagaaaaga	16	12	8	5	0	3	5	1	1	2	4	3	5	3	5	0	1	2	1	0	1	8	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:59970584C>T	ENST00000537690.2	-	0	2616				JKAMP_ENST00000425728.2_Missense_Mutation_p.L238F|JKAMP_ENST00000356057.5_Missense_Mutation_p.L252F|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000554271.1_Missense_Mutation_p.L258F|JKAMP_ENST00000261247.9_Missense_Mutation_p.L244F	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175									p.L252I(1)									CTGCTATGATCTTCTGGTCAG	0.323																																																	1	Substitution - Missense(1)	large_intestine(1)											96	91	92					14																	59970584		1806	4076	5882	SO:0001628	intergenic_variant	0				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 38"	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221			14.37:g.59970584C>T			G3V5J7	Missense_Mutation	SNP	pfam_DUF766	p.L252F	ENST00000537690.2	37	c.754	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702332	0.68501	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000554271;ENST00000356057	.	.	.	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.81112	2.525	0.58432	D	0.999998	D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.998	D;D;D;D;D	0.72982	0.979;0.965;0.965;0.965;0.965	T	0.82705	-0.0325	9	0.87932	D	0	-7.2	14.5802	0.68282	0.0:0.93:0.0:0.07	.	259;258;238;252;244	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	F	244;238;258;252	.	ENSP00000261247:L244F	L	+	1	0	JKAMP	59040337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.373000	0.59537	1.384000	0.46424	0.655000	0.94253	CTT	JKAMP	-	pfam_DUF766	ENSG00000050130		0.323	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	JKAMP	HGNC	protein_coding	OTTHUMT00000471273.1		0	36	0	C	NM_001164399		59970584	1			no_errors	ENST00000356057	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	59970584	C	T	59970584	1	4	100	0	1	0	0	0	0	0	0	0	7976	913	32	3		3	JKAMP	14	59970584	IGR	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	4327856	59970584	47378956	175	28483											
IFI27	3429	genome.wustl.edu	37	chr14	94582247	94582247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgggggtggagttgcctCgggcagccttgtggctactc	5	10	16	10	1	0	0	0	0	0	0	2	1	0	1	2	5	3	3	2	5	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:94582247C>T	ENST00000555744.1	+	4	430	c.242C>T	c.(241-243)tCg>tTg	p.S81L	IFI27_ENST00000557098.1_Missense_Mutation_p.S36L|IFI27_ENST00000444961.1_Missense_Mutation_p.S84L|IFI27_ENST00000448882.1_Missense_Mutation_p.S84L|IFI27_ENST00000557634.1_Missense_Mutation_p.S71L|IFI27_ENST00000298902.5_Missense_Mutation_p.S81L			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	81					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		GGAGTTGCCTCGGGCAGCCTT	0.637																																					GBM(128;797 1667 20895 29868 47129)												0													33	28	30					14																	94582247		2203	4299	6502	SO:0001583	missense	0			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.242C>T	14.37:g.94582247C>T	ENSP00000451956:p.Ser81Leu		Q53YA6|Q6IEC1|Q96BK3	Missense_Mutation	SNP	pfam_IFI6/IFI27	p.S84L	ENST00000555744.1	37	c.251	CCDS32148.1	14	.	.	.	.	.	.	.	.	.	.	C	9.807	1.182170	0.21787	.	.	ENSG00000165949	ENST00000444961;ENST00000448882;ENST00000557098;ENST00000556544;ENST00000298902;ENST00000557634;ENST00000555744	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	3.52	2.63	0.31362	.	0.325812	0.31821	N	0.007015	T	0.26991	0.0661	L	0.57536	1.79	0.09310	N	1	B	0.26845	0.161	B	0.25614	0.062	T	0.27297	-1.0078	10	0.87932	D	0	.	6.8921	0.24234	0.0:0.8733:0.0:0.1267	.	81	P40305	IFI27_HUMAN	L	84;84;36;81;81;71;81	ENSP00000413536:S84L;ENSP00000410901:S84L;ENSP00000450753:S36L;ENSP00000451875:S81L;ENSP00000298902:S81L;ENSP00000452560:S71L;ENSP00000451956:S81L	ENSP00000298902:S81L	S	+	2	0	IFI27	93652000	0.068000	0.21057	0.002000	0.10522	0.001000	0.01503	3.405000	0.52630	1.055000	0.40461	-0.253000	0.11424	TCG	IFI27	-	pfam_IFI6/IFI27	ENSG00000165949		0.637	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFI27	HGNC	protein_coding	OTTHUMT00000412889.1	-	0	79	0	C	NM_005532		94582247	1	tier1	-	no_errors	ENST00000444961	ensembl	human	known	74_37	missense	26.32	84	30	SNP	0.022	T	T	94582247	C	T	94582247	3	4	100	1	0	0	0	0	1	0	0	0	7539	893	31	1	252	1	IFI27	14	94582247	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	34611663	94582247	12767293	176	28484											
ATG2B	55102	genome.wustl.edu	37	chr14	96829287	96829287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taccggcaggccctcttcttGatggactccgaaaacggcca	9	8	10	14	3	2	1	0	1	2	0	3	3	3	2	4	4	2	1	4	4	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr14:96829287G>C	ENST00000359933.4	-	1	920	c.27C>G	c.(25-27)atC>atG	p.I9M	GSKIP_ENST00000556095.1_5'Flank|GSKIP_ENST00000554182.1_5'Flank|GSKIP_ENST00000555181.1_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	9					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CCCTCTTCTTGATGGACTCCG	0.642																																																	0													51	54	53					14																	96829287		2087	4224	6311	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 103", "ATG2 autophagy related 2 homolog B (S. cerevisiae)"	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.27C>G	14.37:g.96829287G>C	ENSP00000353010:p.Ile9Met		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.I9M	ENST00000359933.4	37	c.27	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565808	0.65651	.	.	ENSG00000066739	ENST00000359933	T	0.56941	0.43	4.02	2.04	0.26737	.	0.000000	0.64402	U	0.000004	T	0.67335	0.2882	M	0.69248	2.105	0.41354	D	0.987384	D	0.76494	0.999	D	0.80764	0.994	T	0.68534	-0.5383	10	0.72032	D	0.01	.	11.9051	0.52705	0.0:0.0:0.6825:0.3175	.	9	Q96BY7	ATG2B_HUMAN	M	9	ENSP00000353010:I9M	ENSP00000353010:I9M	I	-	3	3	ATG2B	95899040	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	1.193000	0.32162	0.287000	0.22375	-0.500000	0.04577	ATC	ATG2B	-	NULL	ENSG00000066739		0.642	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	-	0	57	0	G	NM_018036		96829287	-1	tier1	-	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	29.27	58	24	SNP	1.000	C	C	96829287	G	C	96829287	3	2	100	1	0	0	0	0	1	0	0	0	1095	1280	45	5	6377	5	ATG2B	14	96829287	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2247040	96829287	10520253	177	28485											
APBA2	321	genome.wustl.edu	37	chr15	29400541	29400541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggtcaccacggtccttatCaagcggccagacctcaagta	10	7	9	15	3	3	1	3	0	0	1	4	1	4	1	5	3	1	1	5	3	4	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:29400541C>T	ENST00000558402.1	+	14	2585	c.1986C>T	c.(1984-1986)atC>atT	p.I662I	APBA2_ENST00000558330.1_Silent_p.I650I|APBA2_ENST00000411764.1_Silent_p.I650I|APBA2_ENST00000561069.1_Silent_p.I662I|APBA2_ENST00000558259.1_Silent_p.I662I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	662	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGTCCTTATCAAGCGGCCAG	0.607																																																	0													173	148	156					15																	29400541		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1986C>T	15.37:g.29400541C>T			E9PGI4|O60571|Q5XKC0	Silent	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.I662	ENST00000558402.1	37	c.1986	CCDS10022.1	15																																																																																			APBA2	-	superfamily_PDZ,pfscan_PDZ	ENSG00000034053		0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	-	0	40	0	C	NM_005503		29400541	1	tier1	-	no_errors	ENST00000558259	ensembl	human	known	74_37	silent	30.65	43	19	SNP	1.000	T	T	29400541	C	T	29400541	2	4	100	1	0	0	0	0	0	0	0	1	757	816	29	3		3	APBA2	15	29400541	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09		29400541	73130851	178	28486											
C15orf55	256646	genome.wustl.edu	37	chr15	34648143	34648143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctggtggctgataggacttCagaggctctgcccctttgtt	5	13	12	11	0	2	2	1	1	1	1	2	3	2	3	3	4	1	3	3	4	1	4	rs540031927		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:34648143C>T	ENST00000333756.4	+	7	2005	c.1850C>T	c.(1849-1851)tCa>tTa	p.S617L	NUTM1_ENST00000438749.3_Missense_Mutation_p.S635L|NUTM1_ENST00000537011.1_Missense_Mutation_p.S645L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	617						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GATAGGACTTCAGAGGCTCTG	0.582																																																	0													23	23	23					15																	34648143		2195	4288	6483	SO:0001583	missense	0			AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"nuclear protein in testis"	608963	"chromosome 15 open reading frame 55"	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1850C>T	15.37:g.34648143C>T	ENSP00000329448:p.Ser617Leu		B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Missense_Mutation	SNP	NULL	p.S617L	ENST00000333756.4	37	c.1850	CCDS32190.1	15	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068221	0.36470	.	.	ENSG00000184507	ENST00000537011;ENST00000438749;ENST00000333756	T;T;T	0.08546	3.08;3.08;3.08	5.63	4.61	0.57282	.	0.700115	0.12703	N	0.446152	T	0.07908	0.0198	L	0.43152	1.355	0.09310	N	1	B;B;B	0.14805	0.006;0.011;0.006	B;B;B	0.11329	0.005;0.006;0.003	T	0.16070	-1.0415	10	0.33141	T	0.24	.	6.4471	0.21882	0.0:0.8488:0.0:0.1512	.	635;645;617	E7EVE8;F5H4I6;Q86Y26	.;.;NUT_HUMAN	L	645;635;617	ENSP00000444896:S645L;ENSP00000407031:S635L;ENSP00000329448:S617L	ENSP00000329448:S617L	S	+	2	0	C15orf55	32435435	0.001000	0.12720	0.010000	0.14722	0.141000	0.21300	1.354000	0.34056	2.651000	0.90000	0.655000	0.94253	TCA	NUTM1	-	NULL	ENSG00000184507		0.582	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTM1	HGNC	protein_coding	OTTHUMT00000418026.1	-	0	39	0	C	NM_175741		34648143	1	tier1	-	no_errors	ENST00000333756	ensembl	human	known	74_37	missense	37.50	25	15	SNP	0.005	T	T	34648143	C	T	34648143	3	4	100	1	0	0	0	0	1	0	0	0	1808	838	29	3	1876	3	C15orf55	15	34648143	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	5247602	34648143	67883249	179	28487											
CEP152	22995	genome.wustl.edu	37	chr15	49031177	49031177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaagcctccttcaccttCacaaggaacaaactcaggag	15	6	6	14	0	3	0	3	0	0	0	4	2	4	2	4	2	3	0	4	2	4	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:49031177C>T	ENST00000380950.2	-	27	4589	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	CEP152_ENST00000399334.3_Missense_Mutation_p.E1412K	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1468					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTCACCTTCACAAGGAACA	0.448																																																	0													115	110	112					15																	49031177		1903	4127	6030	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"asterless"	613529	"microcephaly, primary autosomal recessive 4"	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4402G>A	15.37:g.49031177C>T	ENSP00000370337:p.Glu1468Lys		E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.E1468K	ENST00000380950.2	37	c.4402	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362613	0.61403	.	.	ENSG00000103995	ENST00000399334	T	0.54071	0.59	5.2	1.17	0.20885	.	0.531595	0.17205	N	0.182952	T	0.33990	0.0882	L	0.27053	0.805	0.26891	N	0.967337	B	0.11235	0.004	B	0.09377	0.004	T	0.16958	-1.0385	10	0.42905	T	0.14	-6.6823	5.9695	0.19344	0.0:0.6322:0.1411:0.2267	.	1412	O94986	CE152_HUMAN	K	1412	ENSP00000382271:E1412K	ENSP00000382271:E1412K	E	-	1	0	CEP152	46818469	0.007000	0.16637	0.102000	0.21198	0.401000	0.30781	0.294000	0.19047	0.066000	0.16515	0.557000	0.71058	GAA	CEP152	-	NULL	ENSG00000103995		0.448	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	-	0	30	0	C	NM_014985		49031177	-1	tier1	-	no_errors	ENST00000380950	ensembl	human	known	74_37	missense	33.33	26	13	SNP	0.304	T	T	49031177	C	T	49031177	3	4	100	1	0	0	0	0	1	0	0	0	3255	835	29	3	734	3	CEP152	15	49031177	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	14383034	49031177	53500215	180	28488											
VPS13C	54832	genome.wustl.edu	37	chr15	62207918	62207918	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtttcacatgaatatcttCtgaacgatactggagaaccc	13	12	7	9	1	3	3	1	2	2	1	3	5	3	3	1	1	3	1	1	1	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:62207918C>G	ENST00000261517.5	-	61	8432	c.8359G>C	c.(8359-8361)Gaa>Caa	p.E2787Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.E2744Q|RN7SL613P_ENST00000584412.1_RNA|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2787Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2744Q	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAATATCTTCTGAACGATAC	0.393																																																	0													67	66	66					15																	62207918		2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.8359G>C	15.37:g.62207918C>G	ENSP00000261517:p.Glu2787Gln			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.E2787Q	ENST00000261517.5	37	c.8359	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772841	0.90108	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.33216	1.42;1.42;1.42	5.39	5.39	0.77823	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.997;0.998;0.998;0.999	D;D;D;D;D	0.77557	0.947;0.947;0.964;0.976;0.99	T	0.57329	-0.7830	10	0.45353	T	0.12	.	19.1603	0.93527	0.0:1.0:0.0:0.0	.	2787;2744;2787;2744;2787	F5GZG8;Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;.;VP13C_HUMAN	Q	2744;2787;2787;2787	ENSP00000249837:E2744Q;ENSP00000261517:E2787Q;ENSP00000379233:E2787Q	ENSP00000249837:E2744Q	E	-	1	0	VPS13C	59995210	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.434000	0.80377	2.514000	0.84764	0.557000	0.71058	GAA	VPS13C	-	pfam_VPSAP_dom	ENSG00000129003		0.393	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	-	0	39	0	C	NM_017684		62207918	-1	tier1	-	no_errors	ENST00000261517	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	G	G	62207918	C	G	62207918	3	3	100	1	0	0	0	0	1	0	0	0	17240	922	32	5	3030	5	VPS13C	15	62207918	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	13176741	62207918	40323474	181	28489											
SLC24A1	9187	genome.wustl.edu	37	chr15	65943238	65943238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctcttccttctgcccatCgtgttcccactgtggctgac	4	14	7	16	1	2	1	0	1	2	0	5	1	4	1	4	1	2	2	4	1	1	4	rs368057501		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:65943238C>T	ENST00000261892.6	+	7	3038	c.2751C>T	c.(2749-2751)atC>atT	p.I917I	SLC24A1_ENST00000546330.1_Silent_p.I899I|SLC24A1_ENST00000339868.6_Silent_p.I899I|SLC24A1_ENST00000399033.4_Silent_p.I917I|SLC24A1_ENST00000537259.1_Silent_p.I899I|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000544319.2_Silent_p.I803I	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	917					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTCTGCCCATCGTGTTCCCAC	0.572																																																	0								C		0,4326		0,0,2163	66	70	68		2751	-1	1	15		68	1,8501		0,1,4250	no	coding-synonymous	SLC24A1	NM_004727.2		0,1,6413	TT,TC,CC		0.0118,0.0,0.0078		917/1100	65943238	1,12827	2163	4251	6414	SO:0001819	synonymous_variant	0			AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"Solute carriers"	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2751C>T	15.37:g.65943238C>T			O43485|O75184|Q17RM9	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger	p.I917	ENST00000261892.6	37	c.2751	CCDS45284.1	15																																																																																			SLC24A1	-	tigrfam_K/Na/Ca-exchanger	ENSG00000074621		0.572	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A1	HGNC	protein_coding	OTTHUMT00000397304.1	-	0	39	0	C	NM_004727		65943238	1	tier1	-	no_errors	ENST00000261892	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.878	T	T	65943238	C	T	65943238	2	4	100	1	0	0	0	0	0	0	0	1	14510	874	31	1		1	SLC24A1	15	65943238	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	3735320	65943238	36588154	182	28490											
PKM2	5315	genome.wustl.edu	37	chr15	72502159	72502159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttatccagcgtgattttGagagtggctcccttcttcag	6	14	11	10	2	2	2	1	2	1	1	4	3	4	2	2	1	1	2	2	1	1	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:72502159G>A	ENST00000335181.5	-	5	523	c.420C>T	c.(418-420)ctC>ctT	p.L140L	PKM_ENST00000565184.1_Silent_p.L140L|PKM_ENST00000319622.6_Silent_p.L140L|PKM_ENST00000568883.1_Intron|PKM_ENST00000565154.1_Silent_p.L140L|PKM_ENST00000568459.1_Silent_p.L140L|PKM_ENST00000449901.2_Silent_p.L125L|PKM_ENST00000389093.3_Silent_p.L140L	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	140					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	GCGTGATTTTGAGAGTGGCTC	0.522																																																	0													209	177	188					15																	72502159		2199	4297	6496	SO:0001819	synonymous_variant	0			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.420C>T	15.37:g.72502159G>A			A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.L140	ENST00000335181.5	37	c.420	CCDS32284.1	15																																																																																			PKM	-	pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase-like_insert_dom,tigrfam_Pyr_Knase	ENSG00000067225		0.522	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKM	HGNC	protein_coding	OTTHUMT00000420056.1	-	0	46	0	G			72502159	-1	tier1	-	no_errors	ENST00000319622	ensembl	human	known	74_37	silent	43.08	37	28	SNP	0.601	A	A	72502159	G	A	72502159	2	1	100	1	0	0	0	0	0	0	0	1	12016	1277	45	3		3	PKM2	15	72502159	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	6558921	72502159	30029233	183	28491											
CYP1A1	1543	genome.wustl.edu	37	chr15	75014785	75014785	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgaaattattattcaggttGactaggctaagcagttcttg	11	14	9	7	1	2	1	1	1	1	0	2	2	2	1	1	2	1	4	1	2	5	8			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:75014785G>C	ENST00000379727.3	-	2	852	c.654C>G	c.(652-654)gtC>gtG	p.V218V	CYP1A1_ENST00000395049.4_Silent_p.V218V|CYP1A1_ENST00000395048.2_Silent_p.V218V|CYP1A1_ENST00000567032.1_Silent_p.V218V|CYP1A1_ENST00000564596.1_5'UTR			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	218					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	TATTCAGGTTGACTAGGCTAA	0.502									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																																								0													94	98	96					15																	75014785		2197	4296	6493	SO:0001819	synonymous_variant	0	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"Cytochrome P450s"	2595	protein-coding gene	gene with protein product		108330	"cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.654C>G	15.37:g.75014785G>C			A4F3V9|A4F3W0|Q53G18	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V218	ENST00000379727.3	37	c.654	CCDS10268.1	15																																																																																			CYP1A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000140465		0.502	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A1	HGNC	protein_coding	OTTHUMT00000286396.1	-	0	70	0	G	NM_000499		75014785	-1	tier1	-	no_errors	ENST00000379727	ensembl	human	known	74_37	silent	25.64	58	20	SNP	0.033	C	C	75014785	G	C	75014785	2	2	100	1	0	0	0	0	0	0	0	1	4158	1277	45	5		5	CYP1A1	15	75014785	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2512626	75014785	27516607	184	28492											
SCAPER	49855	genome.wustl.edu	37	chr15	77057706	77057706	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagggtgaagaaagtttttCatgcatgtgaattccatgcc	12	12	11	6	0	1	4	1	2	0	2	2	4	2	4	2	1	2	2	2	1	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:77057706C>G	ENST00000563290.1	-	13	1680	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	SCAPER_ENST00000538941.2_Missense_Mutation_p.E283Q|SCAPER_ENST00000324767.7_Missense_Mutation_p.E529Q			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	529	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GAAAGTTTTTCATGCATGTGA	0.418																																																	0													88	80	83					15																	77057706		1846	4095	5941	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1585G>C	15.37:g.77057706C>G	ENSP00000454973:p.Glu529Gln		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.E529Q	ENST00000563290.1	37	c.1585	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504793	0.85176	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.27256	1.71;1.68	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.972	D;P;D	0.91635	0.999;0.85;0.926	T	0.22068	-1.0227	10	0.52906	T	0.07	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	529;550;283	Q6NSF1;Q9BY12-2;F5H7X8	.;.;.	Q	529;283;551	ENSP00000326924:E529Q;ENSP00000442190:E283Q	ENSP00000303560:E551Q	E	-	1	0	SCAPER	74844761	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	7.487000	0.81328	2.660000	0.90430	0.455000	0.32223	GAA	SCAPER	-	NULL	ENSG00000140386		0.418	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0	28	0	C	NM_020843		77057706	-1	tier1	-	no_errors	ENST00000324767	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	G	G	77057706	C	G	77057706	3	3	100	1	0	0	0	0	1	0	0	0	13923	835	29	5	2697	5	SCAPER	15	77057706	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2042921	77057706	25473686	185	28493											
SCAPER	49855	genome.wustl.edu	37	chr15	77067388	77067388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaatgaaacttttggcatCactgctgttgatcgagaacg	11	11	10	9	2	1	3	1	2	0	1	2	4	1	3	1	1	3	3	1	1	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:77067388C>T	ENST00000563290.1	-	9	938	c.843G>A	c.(841-843)gtG>gtA	p.V281V	SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000538941.2_Silent_p.V35V|SCAPER_ENST00000324767.7_Silent_p.V281V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	281						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTTTTGGCATCACTGCTGTTG	0.398																																																	0													140	138	138					15																	77067388		1912	4113	6025	SO:0001819	synonymous_variant	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.843G>A	15.37:g.77067388C>T			F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	smart_Znf_U1	p.V281	ENST00000563290.1	37	c.843	CCDS53962.1	15																																																																																			SCAPER	-	NULL	ENSG00000140386		0.398	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0	42	0	C	NM_020843		77067388	-1	tier1	-	no_errors	ENST00000324767	ensembl	human	known	74_37	silent	37.74	33	20	SNP	0.230	T	T	77067388	C	T	77067388	2	4	100	1	0	0	0	0	0	0	0	1	13923	813	29	3		3	SCAPER	15	77067388	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	9682	77067388	25464004	186	28494											
KIF7	374654	genome.wustl.edu	37	chr15	90171751	90171751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccagggcaggcctgcctCacccacaggaagcacccgcc	8	4	11	18	1	1	0	1	0	0	0	2	1	2	1	6	3	2	3	6	3	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:90171751C>T	ENST00000394412.3	-	19	4007	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1311					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			AGGCCTGCCTCACCCACAGGA	0.667																																																	0													32	39	37					15																	90171751		2200	4297	6497	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3931G>A	15.37:g.90171751C>T	ENSP00000377934:p.Glu1311Lys		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1311K	ENST00000394412.3	37	c.3931	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217625	0.39201	.	.	ENSG00000166813	ENST00000394412	T	0.70516	-0.49	5.29	5.29	0.74685	.	0.508177	0.21198	N	0.078505	T	0.56877	0.2015	L	0.27053	0.805	0.09310	N	1	P;P	0.38922	0.493;0.651	B;B	0.30401	0.079;0.115	T	0.51236	-0.8731	10	0.25751	T	0.34	.	18.9395	0.92600	0.0:1.0:0.0:0.0	.	797;1311	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	1311	ENSP00000377934:E1311K	ENSP00000377934:E1311K	E	-	1	0	KIF7	87972755	0.037000	0.19845	0.060000	0.19600	0.028000	0.11728	1.588000	0.36633	2.484000	0.83849	0.462000	0.41574	GAG	KIF7	-	NULL	ENSG00000166813		0.667	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	-	0	27	0	C	NM_198525		90171751	-1	tier1	-	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.019	T	T	90171751	C	T	90171751	3	4	100	1	0	0	0	0	1	0	0	0	8336	835	29	3	104	3	KIF7	15	90171751	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	13104363	90171751	12359641	187	28495											
KIF7	374654	genome.wustl.edu	37	chr15	90171829	90171829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgggggacccctgctcctCaccacacaggctcgagcgtt	6	7	11	17	3	1	0	1	0	0	0	4	2	2	1	4	3	2	3	4	3	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:90171829C>T	ENST00000394412.3	-	19	3929	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1285					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCTGCTCCTCACCACACAGG	0.701																																																	0													40	45	44					15																	90171829		2199	4299	6498	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3853G>A	15.37:g.90171829C>T	ENSP00000377934:p.Glu1285Lys		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1285K	ENST00000394412.3	37	c.3853	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196698	0.58126	.	.	ENSG00000166813	ENST00000394412	T	0.72942	-0.7	5.59	4.68	0.58851	.	0.245798	0.39341	N	0.001382	T	0.55513	0.1925	N	0.24115	0.695	0.44207	D	0.997035	P;P	0.39480	0.675;0.546	B;B	0.34536	0.185;0.073	T	0.58951	-0.7545	10	0.46703	T	0.11	.	14.2095	0.65755	0.0:0.928:0.0:0.072	.	771;1285	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	1285	ENSP00000377934:E1285K	ENSP00000377934:E1285K	E	-	1	0	KIF7	87972833	1.000000	0.71417	0.726000	0.30738	0.028000	0.11728	3.920000	0.56446	1.367000	0.46095	0.462000	0.41574	GAG	KIF7	-	NULL	ENSG00000166813		0.701	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	-	0	16	0	C	NM_198525		90171829	-1	tier1	-	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.995	T	T	90171829	C	T	90171829	3	4	100	1	0	0	0	0	1	0	0	0	8336	835	29	3	182	3	KIF7	15	90171829	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	78	90171829	12359563	188	28496											
KIF7	374654	genome.wustl.edu	37	chr15	90185619	90185619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtgctggcggttcaGggcctgagctgcctttcctg	2	12	15	12	1	1	1	1	1	0	0	2	1	2	1	3	4	3	4	3	4	0	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:90185619G>T	ENST00000394412.3	-	11	2285	c.2209C>A	c.(2209-2211)Ctg>Atg	p.L737M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	737	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGCGGTTCAGGGCCTGAGCT	0.657																																																	0													11	11	11					15																	90185619		2194	4293	6487	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"Kinesins"	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2209C>A	15.37:g.90185619G>T	ENSP00000377934:p.Leu737Met		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L737M	ENST00000394412.3	37	c.2209	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	13.39	2.222101	0.39300	.	.	ENSG00000166813	ENST00000394412	T	0.45668	0.89	4.87	0.241	0.15494	.	0.163209	0.47455	D	0.000233	T	0.20007	0.0481	N	0.13235	0.315	0.27180	N	0.960683	P;B	0.42973	0.796;0.217	B;B	0.39660	0.306;0.033	T	0.15578	-1.0432	10	0.27785	T	0.31	.	5.6298	0.17504	0.2566:0.0:0.5164:0.227	.	223;737	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	737	ENSP00000377934:L737M	ENSP00000377934:L737M	L	-	1	2	KIF7	87986623	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.222000	0.32515	0.117000	0.18138	0.306000	0.20318	CTG	KIF7	-	NULL	ENSG00000166813		0.657	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1		0	39	0	G	NM_198525		90185619	-1			no_errors	ENST00000394412	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.997	T	T	90185619	G	T	90185619	3	4	100	1	0	0	0	0	1	0	0	0	8336	991	35	3	1858	3	KIF7	15	90185619	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	13790	90185619	12345773	189	28497											
ZNF710	374655	genome.wustl.edu	37	chr15	90610643	90610643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaggtggaggcagcctgtGagaagcacacccggcggaag	10	4	18	9	2	0	1	0	1	0	1	0	5	0	4	2	6	2	2	2	6	2	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr15:90610643G>A	ENST00000268154.4	+	2	525	c.274G>A	c.(274-276)Gag>Aag	p.E92K		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GGCAGCCTGTGAGAAGCACAC	0.662																																																	0													52	51	51					15																	90610643		2196	4293	6489	SO:0001583	missense	0			AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"Zinc fingers, C2H2-type"	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.274G>A	15.37:g.90610643G>A	ENSP00000268154:p.Glu92Lys		A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E92K	ENST00000268154.4	37	c.274	CCDS10358.1	15	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310802	0.81358	.	.	ENSG00000140548	ENST00000268154	T	0.11277	2.79	5.29	5.29	0.74685	.	2.220610	0.01826	N	0.034375	T	0.11965	0.0291	N	0.19112	0.55	0.41999	D	0.990882	B	0.32781	0.384	B	0.23716	0.048	T	0.36040	-0.9764	10	0.87932	D	0	-42.9663	17.6687	0.88210	0.0:0.0:1.0:0.0	.	92	Q8N1W2	ZN710_HUMAN	K	92	ENSP00000268154:E92K	ENSP00000268154:E92K	E	+	1	0	ZNF710	88411647	0.997000	0.39634	0.975000	0.42487	0.946000	0.59487	2.802000	0.47916	2.757000	0.94681	0.462000	0.41574	GAG	ZNF710	-	NULL	ENSG00000140548		0.662	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF710	HGNC	protein_coding	OTTHUMT00000313423.1	-	0	77	0	G	NM_198526		90610643	1	tier1	-	no_errors	ENST00000268154	ensembl	human	known	74_37	missense	31.25	55	25	SNP	0.988	A	A	90610643	G	A	90610643	3	1	100	1	0	0	0	0	1	0	0	0	18163	1291	45	3	276	3	ZNF710	15	90610643	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	425024	90610643	11920749	190	28498											
RGS11	8786	genome.wustl.edu	37	chr16	320792	320792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcctgcgctccatatcGaagctcctcacatgcctccc	6	9	8	18	2	1	0	1	0	0	0	5	1	4	0	5	1	3	2	5	1	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:320792G>A	ENST00000397770.3	-	14	1035	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Nonsense_Mutation_p.R319*|RGS11_ENST00000359740.5_Nonsense_Mutation_p.R329*			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	340	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCTCCATATCGAAGCTCCTCA	0.667																																																	0													27	23	25					16																	320792		2202	4298	6500	SO:0001587	stop_gained	0			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"Regulators of G-protein signaling"	9993	protein-coding gene	gene with protein product		603895	"regulator of G-protein signalling 11"			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.1018C>T	16.37:g.320792G>A	ENSP00000380876:p.Arg340*		O75883|Q4TT71|Q4TT72	Nonsense_Mutation	SNP	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.R340*	ENST00000397770.3	37	c.1018	CCDS42088.1	16	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022218	0.54683	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	.	.	.	5.0	4.03	0.46877	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-11.2657	13.7565	0.62940	0.0:0.0:0.8449:0.1551	.	.	.	.	X	340;319;329	.	ENSP00000319069:R319X	R	-	1	2	RGS11	260793	1.000000	0.71417	0.922000	0.36590	0.162000	0.22319	2.819000	0.48049	1.071000	0.40834	0.462000	0.41574	CGA	RGS11	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000076344		0.667	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS11	HGNC	protein_coding	OTTHUMT00000139325.2	-	0	307	0	G			320792	-1	tier1	-	no_errors	ENST00000397770	ensembl	human	known	74_37	nonsense	36.49	221	127	SNP	0.996	A	A	320792	G	A	320792	4	1	100	1	0	0	0	0	0	1	0	0	13339	1066	37	1	401	1	RGS11	16	320792	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		320792	90033961	191	28499											
DCI	1632	genome.wustl.edu	37	chr16	2296896	2296896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcggaagctcttgtcattCtccagcttctccaggctgat	6	12	9	14	2	4	1	1	1	3	0	6	2	4	2	3	2	2	3	3	2	1	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:2296896C>T	ENST00000301729.4	-	3	305	c.258G>A	c.(256-258)gaG>gaA	p.E86E	ECI1_ENST00000570258.1_Silent_p.E27E|ECI1_ENST00000562238.1_Silent_p.E86E	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	86					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)			endometrium(1)|large_intestine(2)|lung(6)	9						TCTTGTCATTCTCCAGCTTCT	0.542																																																	0													63	58	60					16																	2296896		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"3,2 trans-enoyl-CoA isomerase"	600305	"dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)", "dodecenoyl-CoA isomerase"	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.258G>A	16.37:g.2296896C>T			A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Silent	SNP	pfam_Crotonase_core_superfam	p.E86	ENST00000301729.4	37	c.258	CCDS10464.1	16																																																																																			ECI1	-	pfam_Crotonase_core_superfam	ENSG00000167969		0.542	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECI1	HGNC	protein_coding	OTTHUMT00000250768.1	-	0	70	0	C			2296896	-1	tier1	-	no_errors	ENST00000301729	ensembl	human	known	74_37	silent	40.58	41	28	SNP	0.999	T	T	2296896	C	T	2296896	2	4	100	1	0	0	0	0	0	0	0	1	4298	912	32	3		3	DCI	16	2296896	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1976104	2296896	88057857	192	28500											
ZNF597	146434	genome.wustl.edu	37	chr16	3487023	3487023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcatgtgtcgggatagatGagagtgctggcgaaagctgg	10	10	16	5	2	1	2	1	1	0	2	2	5	1	3	0	3	2	2	0	3	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:3487023G>A	ENST00000301744.4	-	4	911	c.676C>T	c.(676-678)Cat>Tat	p.H226Y		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CGGGATAGATGAGAGTGCTGG	0.478																																																	0													131	122	125					16																	3487023		2197	4300	6497	SO:0001583	missense	0			AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"Zinc fingers, C2H2-type", "-"	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.676C>T	16.37:g.3487023G>A	ENSP00000301744:p.His226Tyr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H226Y	ENST00000301744.4	37	c.676	CCDS10505.1	16	.	.	.	.	.	.	.	.	.	.	G	8.856	0.945706	0.18356	.	.	ENSG00000167981	ENST00000301744	T	0.13089	2.62	4.83	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.334103	0.21813	N	0.068739	T	0.09335	0.0230	L	0.38733	1.17	0.09310	N	1	B	0.34161	0.439	B	0.29267	0.1	T	0.25293	-1.0136	10	0.27785	T	0.31	-2.0994	8.6402	0.33972	0.1994:0.0:0.8006:0.0	.	226	Q96LX8	ZN597_HUMAN	Y	226	ENSP00000301744:H226Y	ENSP00000301744:H226Y	H	-	1	0	ZNF597	3427024	0.000000	0.05858	0.023000	0.16930	0.009000	0.06853	-1.267000	0.02839	0.681000	0.31386	-0.345000	0.07892	CAT	ZNF597	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167981		0.478	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF597	HGNC	protein_coding	OTTHUMT00000251511.2	-	0	45	0	G	NM_152457		3487023	-1	tier1	-	no_errors	ENST00000301744	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.000	A	A	3487023	G	A	3487023	3	1	100	1	0	0	0	0	1	0	0	0	18075	1290	45	3	602	3	ZNF597	16	3487023	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1190127	3487023	86867730	193	28501											
PRM2	5620	genome.wustl.edu	37	chr16	11370120	11370120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctcgacgtgctccgggctCagcccttgctcctcttggcc	3	10	10	18	3	2	0	1	0	1	0	5	1	4	0	5	2	3	3	5	2	0	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:11370120C>T	ENST00000241808.4	-	1	217	c.108G>A	c.(106-108)ctG>ctA	p.L36L	PRM3_ENST00000327157.2_5'Flank|SNORA48_ENST00000390926.1_RNA|RMI2_ENST00000572173.1_Intron|PRM2_ENST00000435245.2_Silent_p.L36L	NM_002762.2	NP_002753.2	P04554	PRM2_HUMAN	protamine 2	36					cell differentiation (GO:0030154)|chromosome condensation (GO:0030261)|DNA packaging (GO:0006323)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GCTCCGGGCTCAGCCCTTGCT	0.632																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											85	92	90					16																	11370120		2173	4275	6448	SO:0001819	synonymous_variant	0				CCDS42118.1, CCDS66944.1	16p13.13	2013-10-17			ENSG00000122304	ENSG00000122304			9448	protein-coding gene	gene with protein product	"cancer/testis antigen family 94, member 2"	182890				16632464	Standard	NM_001286356		Approved	CT94.2	uc002dau.1	P04554	OTTHUMG00000172317	ENST00000241808.4:c.108G>A	16.37:g.11370120C>T			Q6ZMM0	Silent	SNP	pfam_Protamine_P2	p.L36	ENST00000241808.4	37	c.108	CCDS42118.1	16																																																																																			PRM2	-	pfam_Protamine_P2	ENSG00000122304		0.632	PRM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRM2	HGNC	protein_coding	OTTHUMT00000417808.1	-	0	68	0	C			11370120	-1	tier1	-	no_errors	ENST00000241808	ensembl	human	known	74_37	silent	33.70	61	31	SNP	0.002	T	T	11370120	C	T	11370120	2	4	100	1	0	0	0	0	0	0	0	1	12575	813	29	3		3	PRM2	16	11370120	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	7883097	11370120	78984633	194	28502											
KIAA0430	9665	genome.wustl.edu	37	chr16	15692750	15692750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaaactgaatgagatCagcagattggaggataacgg	14	8	11	8	1	2	3	2	2	0	2	3	6	3	5	1	3	3	1	1	3	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:15692750C>A	ENST00000396368.3	-	26	5151	c.4945G>T	c.(4945-4947)Gat>Tat	p.D1649Y	KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1646Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D1337Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1649Y|KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1484Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1646Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1649					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGAATGAGATCAGCAGATTGG	0.572																																																	0													65	72	70					16																	15692750		1992	4170	6162	SO:0001583	missense	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	29562	protein-coding gene	gene with protein product	"limkain b1", "protein phosphatase 1, regulatory subunit 34", "meiosis arrest female 1"	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4945G>T	16.37:g.15692750C>A	ENSP00000379654:p.Asp1649Tyr		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.D1649Y	ENST00000396368.3	37	c.4945	CCDS10562.2	16	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611602	0.87258	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.38	5.38	0.77491	.	0.050694	0.85682	D	0.000000	T	0.64918	0.2642	L	0.32530	0.975	0.41024	D	0.985107	D;D;D;P	0.64830	0.965;0.994;0.994;0.941	P;P;P;P	0.60236	0.73;0.871;0.871;0.541	T	0.62393	-0.6864	9	0.38643	T	0.18	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	1648;1646;1645;1648	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	Y	1649;1484;1589;1337;1646;1649;1515	.	ENSP00000315718:D1589Y	D	-	1	0	KIAA0430	15600251	1.000000	0.71417	0.572000	0.28498	0.742000	0.42306	6.776000	0.75023	2.793000	0.96121	0.655000	0.94253	GAT	KIAA0430	-	NULL	ENSG00000166783		0.572	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	-	0	82	0	C	NM_014647		15692750	-1	tier1	-	no_errors	ENST00000396368	ensembl	human	known	74_37	missense	26.03	53	19	SNP	1.000	A	A	15692750	C	A	15692750	3	1	100	1	0	0	0	0	1	0	0	0	8204	826	29	3	291	3	KIAA0430	16	15692750	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	4322630	15692750	74662003	195	28503											
VWA3A	146177	genome.wustl.edu	37	chr16	22149768	22149768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaaaccaaagacacttCagctaagaagtcagcccaag	20	4	7	10	0	2	3	2	0	0	3	2	3	2	3	2	0	3	1	2	0	7	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:22149768C>T	ENST00000389398.5	+	22	2323	c.2227C>T	c.(2227-2229)Cag>Tag	p.Q743*	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	743						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAAGACACTTCAGCTAAGAAG	0.532																																																	0													55	59	58					16																	22149768		1921	4133	6054	SO:0001587	stop_gained	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2227C>T	16.37:g.22149768C>T	ENSP00000374049:p.Gln743*		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q743*	ENST00000389398.5	37	c.2227	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	2.458	-0.324895	0.05350	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	.	.	.	5.15	0.0385	0.14200	.	0.632857	0.16361	N	0.217761	.	.	.	.	.	.	0.21984	N	0.999432	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	13.3271	0.60465	0.3596:0.6404:0.0:0.0	.	.	.	.	X	743;366	.	ENSP00000299840:Q366X	Q	+	1	0	VWA3A	22057269	0.944000	0.32072	0.008000	0.14137	0.154000	0.21943	1.386000	0.34419	-0.192000	0.10432	0.655000	0.94253	CAG	VWA3A	-	NULL	ENSG00000175267		0.532	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	-	0	58	0	C			22149768	1	tier1	-	no_errors	ENST00000389398	ensembl	human	known	74_37	nonsense	33.33	38	19	SNP	0.074	T	T	22149768	C	T	22149768	4	4	100	1	0	0	0	0	0	1	0	0	17289	827	29	3	2313	3	VWA3A	16	22149768	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	6457018	22149768	68204985	196	28504											
LCMT1	51451	genome.wustl.edu	37	chr16	25186294	25186294	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggatgaaatggagctGctggagcagctcatgcggca	9	9	14	9	1	1	1	1	1	0	0	2	4	2	4	1	4	5	5	1	4	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:25186294G>T	ENST00000399069.3	+	10	1076	c.921G>T	c.(919-921)ctG>ctT	p.L307L	LCMT1_ENST00000380966.4_Silent_p.L252L|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	307				EL -> DV (in Ref. 1; AAF18267). {ECO:0000305}.	C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	AAATGGAGCTGCTGGAGCAGC	0.443																																					Colon(200;565 2072 24396 47922 50898)												0													61	62	62					16																	25186294		1875	4105	5980	SO:0001819	synonymous_variant	0			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"protein phosphatase methyltransferase 1"	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.921G>T	16.37:g.25186294G>T			A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Silent	SNP	pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCMT1	p.L307	ENST00000399069.3	37	c.921	CCDS45445.1	16																																																																																			LCMT1	-	pirsf_Leu_CO_MeTrfase_LCMT1	ENSG00000205629		0.443	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	-	0	22	0	G	NM_016309		25186294	1	tier1	-	no_errors	ENST00000399069	ensembl	human	known	74_37	silent	34.38	21	11	SNP	0.691	T	T	25186294	G	T	25186294	2	4	100	1	0	0	0	0	0	0	0	1	8706	1306	46	3		3	LCMT1	16	25186294	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	3036526	25186294	65168459	197	28505											
TBC1D10B	26000	genome.wustl.edu	37	chr16	30380585	30380585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgcccccaaggaagccaTacttgtccgtcttgcgcagg	7	8	12	14	2	1	0	0	0	1	0	2	1	2	1	4	3	4	2	4	3	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:30380585T>C	ENST00000409939.3	-	1	1000	c.920A>G	c.(919-921)tAt>tGt	p.Y307C		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	307					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			AAGGAAGCCATACTTGTCCGT	0.617																																																	0													37	24	29					16																	30380585		2194	4296	6490	SO:0001583	missense	0			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.920A>G	16.37:g.30380585T>C	ENSP00000386538:p.Tyr307Cys		B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Y307C	ENST00000409939.3	37	c.920	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014338	0.75161	.	.	ENSG00000169221	ENST00000409939	T	0.18502	2.21	4.1	4.1	0.47936	.	0.000000	0.64402	D	0.000003	T	0.41213	0.1149	M	0.77616	2.38	0.54753	D	0.999985	D	0.76494	0.999	D	0.75484	0.986	T	0.41088	-0.9528	10	0.87932	D	0	.	12.2043	0.54342	0.0:0.0:0.0:1.0	.	307	Q4KMP7	TB10B_HUMAN	C	307	ENSP00000386538:Y307C	ENSP00000386538:Y307C	Y	-	2	0	TBC1D10B	30288086	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.746000	0.74866	1.730000	0.51580	0.459000	0.35465	TAT	TBC1D10B	-	NULL	ENSG00000169221		0.617	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	-	0	40	0	T	NM_015527		30380585	-1	tier1	-	no_errors	ENST00000409939	ensembl	human	known	74_37	missense	49.23	33	32	SNP	1.000	C	C	30380585	T	C	30380585	3	2	100	1	0	0	0	0	1	0	0	0	15646	1406	49	4	1542	4	TBC1D10B	16	30380585	Missense_Mutation	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09	5194291	30380585	59974168	198	28506											
PAPD5	64282	genome.wustl.edu	37	chr16	50261884	50261884	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcaaagcacccaaaccacTaacacatccaacagcaccaa	19	3	3	16	0	0	0	0	0	0	0	1	0	1	0	4	0	6	3	4	0	5	1	rs373965165		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:50261884T>C	ENST00000561678.1	+	10	1634	c.1560T>C	c.(1558-1560)acT>acC	p.T520T	PAPD5_ENST00000436909.3_Silent_p.T630T|PAPD5_ENST00000357464.3_Silent_p.T551T|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	504	Ser-rich.				histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		CCCAAACCACTAACACATCCA	0.438																																																	0													88	86	86					16																	50261884		1925	4138	6063	SO:0001819	synonymous_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"TUTase3"	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1560T>C	16.37:g.50261884T>C			B4DV38|Q9NW67|Q9Y6C0	Silent	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.T630	ENST00000561678.1	37	c.1890		16																																																																																			PAPD5	-	NULL	ENSG00000121274		0.438	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1	-	0	47	0	T	NM_022447		50261884	1	tier1	-	no_errors	ENST00000436909	ensembl	human	known	74_37	silent	36.49	47	27	SNP	0.002	C	C	50261884	T	C	50261884	2	2	100	1	0	0	0	0	0	0	0	1	11464	1509	53	4		4	PAPD5	16	50261884	Silent	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09	19881299	50261884	40092869	199	28507											
DDX28	55794	genome.wustl.edu	37	chr16	68055590	68055590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaccaggctcacatcccaggGatgggtcacaaaactgatga	14	6	10	11	0	2	2	2	2	0	0	3	3	3	3	2	3	2	1	2	3	3	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:68055590G>C	ENST00000332395.5	-	1	2180	c.1516C>G	c.(1516-1518)Ccc>Gcc	p.P506A	DUS2_ENST00000432752.1_5'Flank|DUS2_ENST00000358896.6_5'Flank|DUS2_ENST00000565263.1_5'Flank	NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	506	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		ACATCCCAGGGATGGGTCACA	0.582																																																	0													49	46	47					16																	68055590		2198	4300	6498	SO:0001583	missense	0			AF329821	CCDS10858.1	16q22.1-q22.3	2008-02-05	2003-06-13		ENSG00000182810	ENSG00000182810		"DEAD-boxes"	17330	protein-coding gene	gene with protein product		607618	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 28"			10493829, 11350955	Standard	NM_018380		Approved	MDDX28, FLJ11282	uc002evh.2	Q9NUL7	OTTHUMG00000137549	ENST00000332395.5:c.1516C>G	16.37:g.68055590G>C	ENSP00000332340:p.Pro506Ala			Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P506A	ENST00000332395.5	37	c.1516	CCDS10858.1	16	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274106	0.23221	.	.	ENSG00000182810	ENST00000332395	T	0.70869	-0.52	5.81	4.86	0.63082	Helicase, C-terminal (1);	0.181994	0.47852	D	0.000203	T	0.55033	0.1895	N	0.21583	0.68	0.38807	D	0.955338	B	0.18310	0.027	B	0.19148	0.024	T	0.53063	-0.8491	10	0.32370	T	0.25	-16.7896	10.4232	0.44363	0.0699:0.1339:0.7962:0.0	.	506	Q9NUL7	DDX28_HUMAN	A	506	ENSP00000332340:P506A	ENSP00000332340:P506A	P	-	1	0	DDX28	66613091	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	5.307000	0.65762	1.473000	0.48159	-0.259000	0.10710	CCC	DDX28	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000182810		0.582	DDX28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX28	HGNC	protein_coding	OTTHUMT00000268883.1	-	0	22	0	G	NM_018380		68055590	-1	tier1	-	no_errors	ENST00000332395	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.997	C	C	68055590	G	C	68055590	3	2	100	1	0	0	0	0	1	0	0	0	4364	1174	41	5	110	5	DDX28	16	68055590	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	17793706	68055590	22299163	200	28508											
PRMT7	54496	genome.wustl.edu	37	chr16	68371375	68371376	+	Frame_Shift_Ins	INS	-	-	T																															tttcagagggtgacatgccaINStgccgtgccaacatcctggt																										TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:68371375_68371376insT	ENST00000339507.5	+	7	1235_1236	c.405_406insT	c.(406-408)tgcfs	p.C136fs	PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000441236.1_Frame_Shift_Ins_p.C86fs|PRMT7_ENST00000449359.3_Frame_Shift_Ins_p.C86fs			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	136	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GTGACATGCCATGCCGTGCCAA	0.485																																																	0																																										SO:0001589	frameshift_variant	0			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"Protein arginine methyltransferases"	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.406dupT	16.37:g.68371376_68371376dupT	ENSP00000343103:p.Cys136fs		B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Frame_Shift_Ins	INS	pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7	p.C135fs	ENST00000339507.5	37	c.405_406	CCDS10866.1	16																																																																																			PRMT7	-	pirsf_Arg_MeTrfase_PRMT7	ENSG00000132600		0.485	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3		0	58	0	-	NM_019023		68371376	1	tier1		no_errors	ENST00000339507	ensembl	human	known	74_37	frame_shift_ins	34.09	29	15	INS	0.724:0.757	T	T	68371376	-	T	68371375	7	5	100	1	0	1	1	0	0	0	0	0	12583	204	8	0	423	0	PRMT7	16	68371375	Frame_Shift_Ins	INS	-	TCGA-LN-A49M-01A-21D-A27G-09	315785	68371375	21983378	201	28509											
PDPR	55066	genome.wustl.edu	37	chr16	70187389	70187389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgcagtctccgaattgaGaagttttttgccttctgggg	6	15	11	9	2	2	1	0	1	2	1	4	3	2	1	2	2	1	2	2	2	2	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:70187389G>A	ENST00000288050.4	+	18	3105	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	PDPR_ENST00000542659.1_Silent_p.E61E|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000567046.1_Silent_p.E74E|PDPR_ENST00000398122.3_Silent_p.E616E|PDPR_ENST00000568530.1_Silent_p.E716E	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	716					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TCCGAATTGAGAAGTTTTTTG	0.463																																																	0													103	105	104					16																	70187389		1926	4138	6064	SO:0001819	synonymous_variant	0				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2148G>A	16.37:g.70187389G>A			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.E716	ENST00000288050.4	37	c.2148	CCDS45520.1	16																																																																																			PDPR	-	pfam_GCV_T_N	ENSG00000090857		0.463	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	-	0	59	0	G	NM_017990		70187389	1	tier1	-	no_errors	ENST00000288050	ensembl	human	known	74_37	silent	28.33	43	17	SNP	1.000	A	A	70187389	G	A	70187389	2	1	100	1	0	0	0	0	0	0	0	1	11728	933	33	3		3	PDPR	16	70187389	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1816014	70187389	20167364	202	28510											
MARVELD3	91862	genome.wustl.edu	37	chr16	71668213	71668213	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggggggcatttactactAtcagttcggaggggcttaca	8	12	13	8	1	1	0	1	0	0	0	2	1	1	1	0	6	3	3	0	6	4	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:71668213A>G	ENST00000268485.3	+	3	757	c.713A>G	c.(712-714)tAt>tGt	p.Y238C	MARVELD3_ENST00000567501.1_Silent_p.L51L|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	238	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				ATTTACTACTATCAGTTCGGA	0.557																																																	0													108	110	110					16																	71668213		2198	4300	6498	SO:0001583	missense	0			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"MARVEL (membrane-associating) domain containing 3"	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.713A>G	16.37:g.71668213A>G	ENSP00000268485:p.Tyr238Cys		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	NULL	p.Y238C	ENST00000268485.3	37	c.713	CCDS10904.1	16	.	.	.	.	.	.	.	.	.	.	A	22.9	4.343854	0.82022	.	.	ENSG00000140832	ENST00000268485	T	0.59772	0.24	5.91	5.91	0.95273	Marvel (1);	.	.	.	.	T	0.75982	0.3924	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78097	-0.2337	9	0.59425	D	0.04	.	15.5295	0.75942	1.0:0.0:0.0:0.0	.	238	Q96A59	MALD3_HUMAN	C	238	ENSP00000268485:Y238C	ENSP00000268485:Y238C	Y	+	2	0	MARVELD3	70225714	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.120000	0.89581	2.254000	0.74563	0.533000	0.62120	TAT	MARVELD3	-	NULL	ENSG00000140832		0.557	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	MARVELD3	HGNC	protein_coding	OTTHUMT00000268991.2	-	0	23	0	A	NM_052858		71668213	1	tier1	-	no_errors	ENST00000268485	ensembl	human	known	74_37	missense	50.00	14	14	SNP	1.000	G	G	71668213	A	G	71668213	3	3	100	1	0	0	0	0	1	0	0	0	9357	449	16	4	723	4	MARVELD3	16	71668213	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	1480824	71668213	18686540	203	28511											
HSDL1	83693	genome.wustl.edu	37	chr16	84163981	84163981	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactaatcaggattatattGagacctcggcttgctaactc	11	12	8	10	2	1	1	1	1	0	1	3	4	1	2	1	2	2	2	1	2	4	6	rs141648024	byFrequency	TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr16:84163981G>T	ENST00000219439.4	-	4	452	c.276C>A	c.(274-276)ctC>ctA	p.L92L	HSDL1_ENST00000434463.3_Silent_p.L92L	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	92						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GGATTATATTGAGACCTCGGC	0.448																																																	0													110	113	112					16																	84163981		2200	4300	6500	SO:0001819	synonymous_variant	0			AF237684	CCDS10942.1, CCDS54046.1	16q24	2011-09-20			ENSG00000103160	ENSG00000103160		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"	16475	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 12C, member 3"					12153137, 19027726	Standard	NM_031463		Approved	SDR12C3	uc002fhk.2	Q3SXM5	OTTHUMG00000137635	ENST00000219439.4:c.276C>A	16.37:g.84163981G>T			B4DSL2|D3DUL4|Q3SXM4|Q8NC98|Q9BY22	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L92	ENST00000219439.4	37	c.276	CCDS10942.1	16																																																																																			HSDL1	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000103160		0.448	HSDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSDL1	HGNC	protein_coding	OTTHUMT00000269076.3	-	0	42	0	G	NM_031463		84163981	-1	tier1	-	no_errors	ENST00000219439	ensembl	human	known	74_37	silent	30.23	30	13	SNP	0.977	T	T	84163981	G	T	84163981	2	4	100	1	0	0	0	0	0	0	0	1	7420	1277	45	3		3	HSDL1	16	84163981	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	12495768	84163981	6190772	204	28512											
PRPF8	10594	genome.wustl.edu	37	chr17	1561597	1561597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgtggattatcttgaGgaacagctgccctgtgcgtg	7	11	15	8	2	1	1	0	1	1	0	1	4	1	4	1	3	4	1	1	3	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:1561597G>C	ENST00000572621.1	-	33	5720	c.5455C>G	c.(5455-5457)Ctc>Gtc	p.L1819V	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1819V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1819	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTATCTTGAGGAACAGCTGC	0.517																																																	0													154	142	146					17																	1561597		2203	4300	6503	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5455C>G	17.37:g.1561597G>C	ENSP00000460348:p.Leu1819Val		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.L1819V	ENST00000572621.1	37	c.5455	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	g	22.6	4.313842	0.81358	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.86562	-2.14	6.03	6.03	0.97812	PRP8 domain IV core (1);	0.000000	0.85682	D	0.000000	D	0.94301	0.8169	M	0.89904	3.07	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	D	0.94350	0.7578	10	0.56958	D	0.05	-3.1367	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	1819	Q6P2Q9	PRP8_HUMAN	V	1819;344	ENSP00000304350:L1819V	ENSP00000304350:L1819V	L	-	1	0	PRPF8	1508347	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.768000	0.68858	2.861000	0.98227	0.655000	0.94253	CTC	PRPF8	-	pfam_PRP8_domainIV	ENSG00000174231		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	-	0	94	0	G			1561597	-1	tier1	-	no_errors	ENST00000304992	ensembl	human	known	74_37	missense	26.95	102	38	SNP	1.000	C	C	1561597	G	C	1561597	3	2	100	1	0	0	0	0	1	0	0	0	12617	1000	35	5	1592	5	PRPF8	17	1561597	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		1561597	79633613	205	28513											
YBX2	51087	genome.wustl.edu	37	chr17	7193791	7193791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgggacttacgtcggttggGggcataacggctgcccttca	6	9	15	11	4	1	0	1	0	0	0	2	1	1	1	1	5	3	3	1	5	2	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:7193791G>A	ENST00000007699.5	-	5	586	c.523C>T	c.(523-525)Ccc>Tcc	p.P175S	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	175					mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CGTCGGTTGGGGGCATAACGG	0.637																																																	0													32	35	34					17																	7193791		2197	4294	6491	SO:0001583	missense	0			AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.523C>T	17.37:g.7193791G>A	ENSP00000007699:p.Pro175Ser		D3DTP1|Q8N4P0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.P175S	ENST00000007699.5	37	c.523	CCDS11098.1	17	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396023	0.83011	.	.	ENSG00000006047	ENST00000007699	T	0.24723	1.84	4.67	3.69	0.42338	.	0.116802	0.64402	D	0.000017	T	0.41096	0.1144	L	0.61218	1.895	0.45621	D	0.998559	D	0.67145	0.996	P	0.57620	0.824	T	0.39231	-0.9624	10	0.66056	D	0.02	-7.0798	12.8186	0.57679	0.0:0.1658:0.8342:0.0	.	175	Q9Y2T7	YBOX2_HUMAN	S	175	ENSP00000007699:P175S	ENSP00000007699:P175S	P	-	1	0	YBX2	7134515	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.837000	0.62796	1.323000	0.45263	0.561000	0.74099	CCC	YBX2	-	NULL	ENSG00000006047		0.637	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX2	HGNC	protein_coding	OTTHUMT00000440172.2	-	0	60	0	G	NM_015982		7193791	-1	tier1	-	no_errors	ENST00000007699	ensembl	human	known	74_37	missense	40.58	40	28	SNP	1.000	A	A	7193791	G	A	7193791	3	1	100	1	0	0	0	0	1	0	0	0	17519	1232	43	3	587	3	YBX2	17	7193791	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	5632194	7193791	74001419	206	28514											
TP53	7157	genome.wustl.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2	rs397516436		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACTATGTCGAAAAGTGTTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132	118	123					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	461	0	G	NM_000546		7578212	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	37.45	299	179	SNP	0.893	A	A	7578212	G	A	7578212	4	1	100	1	0	0	0	0	0	1	0	0	16429	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	384421	7578212	73616998	207	28515											
TP53	7157	genome.wustl.edu	37	chr17	7578527	7578527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcttggccagttggcAaaacatcttgttgagggcag	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	4	1	5	1	4	2	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:7578527A>G	ENST00000269305.4	-	5	592	c.403T>C	c.(403-405)Tgc>Cgc	p.C135R	TP53_ENST00000445888.2_Missense_Mutation_p.C135R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C135R|TP53_ENST00000420246.2_Missense_Mutation_p.C135R|TP53_ENST00000413465.2_Missense_Mutation_p.C135R|TP53_ENST00000359597.4_Missense_Mutation_p.C135R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCAGTTGGCAAAACATCTTG	0.567		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	49	Substitution - Missense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(5)|biliary_tract(5)|breast(5)|large_intestine(4)|oesophagus(4)|lung(4)|bone(4)|upper_aerodigestive_tract(2)|urinary_tract(2)|pancreas(2)|stomach(1)|skin(1)|penis(1)|ovary(1)											49	50	49					17																	7578527		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.403T>C	17.37:g.7578527A>G	ENSP00000269305:p.Cys135Arg		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135R	ENST00000269305.4	37	c.403	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340491	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97181	0.9851	10	0.87932	D	0	-26.815	13.8301	0.63375	1.0:0.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135R;ENSP00000352610:C135R;ENSP00000269305:C135R;ENSP00000398846:C135R;ENSP00000391127:C135R;ENSP00000391478:C135R;ENSP00000425104:C3R;ENSP00000423862:C42R;ENSP00000424104:C135R	ENSP00000269305:C135R	C	-	1	0	TP53	7519252	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	287	0	A	NM_000546		7578527	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	40.06	202	135	SNP	1.000	G	G	7578527	A	G	7578527	3	3	100	1	0	0	0	0	1	0	0	0	16429	130	5	4	895	4	TP53	17	7578527	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	315	7578527	73616683	208	28516											
MYH10	4628	genome.wustl.edu	37	chr17	8393817	8393817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcctccagctgggtcctCatttcctccacctgctgctc	4	12	7	18	0	1	0	1	0	0	0	7	0	6	0	6	1	4	4	6	1	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:8393817C>T	ENST00000269243.4	-	33	4770	c.4632G>A	c.(4630-4632)atG>atA	p.M1544I	MYH10_ENST00000379980.4_Missense_Mutation_p.M1560I|MYH10_ENST00000360416.3_Missense_Mutation_p.M1575I|MYH10_ENST00000396239.1_Missense_Mutation_p.M1565I	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1544					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GCTGGGTCCTCATTTCCTCCA	0.557																																																	0													117	106	110					17																	8393817		2203	4300	6503	SO:0001583	missense	0			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"Myosins / Myosin superfamily : Class II"	7568	protein-coding gene	gene with protein product		160776	"myosin, heavy polypeptide 10, non-muscle"			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4632G>A	17.37:g.8393817C>T	ENSP00000269243:p.Met1544Ile		B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1565I	ENST00000269243.4	37	c.4695	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169189	0.78339	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.77	4.77	0.60923	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	L	0.48986	1.54	0.80722	D	1	B;B;B	0.23185	0.081;0.006;0.081	B;B;B	0.33121	0.158;0.044;0.158	T	0.64964	-0.6283	10	0.09338	T	0.73	.	18.3251	0.90251	0.0:1.0:0.0:0.0	.	1553;1575;1544	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	I	1544;1575;1565;1560	ENSP00000269243:M1544I;ENSP00000353590:M1575I;ENSP00000379539:M1565I;ENSP00000369315:M1560I	ENSP00000269243:M1544I	M	-	3	0	MYH10	8334542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.603000	0.82811	2.629000	0.89072	0.655000	0.94253	ATG	MYH10	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000133026		0.557	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	-	0	32	0	C			8393817	-1	tier1	-	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T	T	8393817	C	T	8393817	3	4	100	1	0	0	0	0	1	0	0	0	10068	826	29	3	1334	3	MYH10	17	8393817	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	815290	8393817	72801393	209	28517											
PIK3R5	23533	genome.wustl.edu	37	chr17	8791843	8791843	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtttatagatcctgatgaActtctgcccaggcctgcggt	8	12	11	10	1	1	3	0	2	1	1	2	4	2	3	3	2	3	1	3	2	3	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:8791843A>T	ENST00000447110.1	-	10	1385	c.1261T>A	c.(1261-1263)Ttc>Atc	p.F421I	PIK3R5_ENST00000584803.1_Missense_Mutation_p.F421I|PIK3R5_ENST00000581552.1_Missense_Mutation_p.F421I	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	421					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCCTGATGAACTTCTGCCCA	0.652																																					NSCLC(18;589 615 7696 20311 50332)												0													16	18	18					17																	8791843		2201	4298	6499	SO:0001583	missense	0			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1261T>A	17.37:g.8791843A>T	ENSP00000392812:p.Phe421Ile		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.F421I	ENST00000447110.1	37	c.1261	CCDS11147.1	17	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246931	0.39697	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.75938	-0.98	5.51	2.14	0.27477	.	0.373867	0.31268	N	0.007954	T	0.46132	0.1377	N	0.08118	0	0.29272	N	0.87061	B	0.17667	0.023	B	0.21151	0.033	T	0.20571	-1.0271	10	0.17832	T	0.49	-21.3479	3.1663	0.06536	0.5065:0.0:0.315:0.1785	.	421	Q8WYR1	PI3R5_HUMAN	I	421	ENSP00000392812:F421I	ENSP00000269300:F421I	F	-	1	0	PIK3R5	8732568	0.994000	0.37717	1.000000	0.80357	0.989000	0.77384	0.741000	0.26202	0.933000	0.37291	0.528000	0.53228	TTC	PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.652	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	-	0	47	0	A	NM_014308		8791843	-1	tier1	-	no_errors	ENST00000447110	ensembl	human	known	74_37	missense	35.19	35	19	SNP	1.000	T	T	8791843	A	T	8791843	3	4	100	1	0	0	0	0	1	0	0	0	11961	43	2	5	1421	5	PIK3R5	17	8791843	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	398026	8791843	72403367	210	28518											
MYO15A	51168	genome.wustl.edu	37	chr17	18023041	18023041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacacctacggctacggctaCgacgattacgaacccccata	12	7	7	15	5	0	0	0	0	0	0	0	3	0	0	3	2	6	2	3	2	7	6			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:18023041C>T	ENST00000205890.5	+	2	1265	c.927C>T	c.(925-927)taC>taT	p.Y309Y		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	309					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Y309Y(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTACGGCTACGACGATTACG	0.607																																																	1	Substitution - coding silent(1)	large_intestine(1)											45	52	50					17																	18023041		1914	4110	6024	SO:0001819	synonymous_variant	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"Myosins / Myosin superfamily : Class XV"	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.927C>T	17.37:g.18023041C>T			B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.Y309	ENST00000205890.5	37	c.927	CCDS42271.1	17																																																																																			MYO15A	-	NULL	ENSG00000091536		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0	94	0	C	NM_016239		18023041	1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	silent	50.00	33	33	SNP	0.089	T	T	18023041	C	T	18023041	2	4	100	1	0	0	0	0	0	0	0	1	10101	547	19	1		1	MYO15A	17	18023041	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	9231198	18023041	63172169	211	28519											
SARM1	113235	genome.wustl.edu	37	chr17	26723220	26723220	+	3'UTR	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccattgagaagatcatccGcttcctgcagggccgctcct	8	9	9	15	2	1	2	1	1	0	2	4	3	4	2	5	1	1	3	5	1	1	2	rs544071937		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:26723220G>T	ENST00000440501.1	-	0	4927				SLC46A1_ENST00000584729.1_5'UTR|SARM1_ENST00000457710.3_Missense_Mutation_p.R663L|SLC46A1_ENST00000321666.5_3'UTR|SARM1_ENST00000379061.4_3'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1						cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	AAGATCATCCGCTTCCTGCAG	0.607																																																	0													84	76	79					17																	26723220		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"Solute carriers"	30521	protein-coding gene	gene with protein product	"heme carrier protein 1", "proton-coupled folate transporter"	611672	"solute carrier family 46, member 1"			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.*3452C>A	17.37:g.26723220G>T			Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.R663L	ENST00000440501.1	37	c.1988		17	.	.	.	.	.	.	.	.	.	.	G	31	5.089491	0.94149	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	4.84	3.88	0.44766	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	.	.	.	0.80722	D	1	D	0.63880	0.993	P	0.47603	0.551	T	0.65829	-0.6073	8	0.87932	D	0	-22.0242	13.0329	0.58854	0.0784:0.0:0.9216:0.0	.	697	Q6SZW1	SARM1_HUMAN	L	695;663	.	ENSP00000003834:R663L	R	+	2	0	SARM1	23747347	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.962000	0.87912	1.028000	0.39785	0.561000	0.74099	CGC	SARM1	-	smart_TIR_dom	ENSG00000004139		0.607	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	SARM1	HGNC	protein_coding			0	13	0	G	NM_080669		26723220	1			no_errors	ENST00000457710	ensembl	human	novel	74_37	missense	8.33	22	2	SNP	1.000	T	T	26723220	G	T	26723220	1	4	100	0	1	0	0	0	0	0	0	0	13887	1087	38	2		2	SARM1	17	26723220	3'UTR	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	8700179	26723220	54471990	212	28520											
C17orf66	256957	genome.wustl.edu	37	chr17	34185297	34185297	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttccagcccaatggtcttGagcatttgggtggcttcaaa	8	13	11	9	0	2	1	1	1	1	0	3	1	3	1	2	3	2	3	2	3	2	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:34185297G>C	ENST00000311880.2	-	11	1207	c.1059C>G	c.(1057-1059)ctC>ctG	p.L353L	C17orf66_ENST00000592980.1_Silent_p.L313L	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		353					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CAATGGTCTTGAGCATTTGGG	0.522																																																	0													175	163	167					17																	34185297		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000311880.2:c.1059C>G	17.37:g.34185297G>C			B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	superfamily_ARM-type_fold	p.L353	ENST00000311880.2	37	c.1059	CCDS11299.1	17																																																																																			C17orf66	-	superfamily_ARM-type_fold	ENSG00000172653		0.522	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf66	HGNC	protein_coding	OTTHUMT00000256487.1	-	0	37	0	G			34185297	-1	tier1	-	no_errors	ENST00000311880	ensembl	human	known	74_37	silent	34.67	49	26	SNP	0.995	C	C	34185297	G	C	34185297	2	2	100	1	0	0	0	0	0	0	0	1	1880	1277	45	5		5	C17orf66	17	34185297	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	7462077	34185297	47009913	213	28521											
SYNRG	11276	genome.wustl.edu	37	chr17	35900600	35900600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctggagaaggagaagaaCggcttatttctttatcacca	14	10	10	7	1	2	3	1	0	1	3	2	5	2	3	1	3	2	2	1	3	6	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:35900600C>T	ENST00000339208.6	-	16	3388	c.3248G>A	c.(3247-3249)cGt>cAt	p.R1083H	SYNRG_ENST00000345615.4_Missense_Mutation_p.R1005H|SYNRG_ENST00000591288.1_Missense_Mutation_p.R877H|SYNRG_ENST00000585472.1_Missense_Mutation_p.R1004H|SYNRG_ENST00000346661.4_Missense_Mutation_p.R1083H|SYNRG_ENST00000502449.2_Missense_Mutation_p.R960H|SYNRG_ENST00000394378.2_Missense_Mutation_p.R1005H	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1083					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGAAGAACGGCTTATTTC	0.488																																																	0													108	111	110					17																	35900600		2203	4300	6503	SO:0001583	missense	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"gamma-synergin", "adaptor-related protein complex 1 gamma subunit-binding protein 1"	607291	"AP1 gamma subunit binding protein 1"	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3248G>A	17.37:g.35900600C>T	ENSP00000343610:p.Arg1083His		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.R1083H	ENST00000339208.6	37	c.3248	CCDS11321.1	17	.	.	.	.	.	.	.	.	.	.	C	13.96	2.394064	0.42410	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T	0.53206	1.2;0.63	5.3	3.32	0.38043	.	0.122597	0.56097	N	0.000029	T	0.33990	0.0882	L	0.41710	1.295	0.49213	D	0.999769	B;B;B;B;B;B	0.34161	0.159;0.439;0.439;0.305;0.092;0.092	B;B;B;B;B;B	0.31016	0.036;0.123;0.123;0.07;0.02;0.02	T	0.16600	-1.0397	10	0.45353	T	0.12	-4.2135	7.8607	0.29507	0.0:0.7521:0.0:0.2479	.	877;1005;1005;1005;1083;1083	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	H	1083;877;1083;1005;1005	ENSP00000005279:R1083H;ENSP00000377903:R1005H	ENSP00000343610:R877H	R	-	2	0	SYNRG	32974713	0.997000	0.39634	0.998000	0.56505	0.968000	0.65278	3.198000	0.51035	1.235000	0.43724	0.563000	0.77884	CGT	SYNRG	-	NULL	ENSG00000006114		0.488	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	-	0	73	0	C	NM_007247		35900600	-1	tier1	-	no_errors	ENST00000339208	ensembl	human	known	74_37	missense	38.60	35	22	SNP	0.997	T	T	35900600	C	T	35900600	3	4	100	1	0	0	0	0	1	0	0	0	15507	536	19	1	797	1	SYNRG	17	35900600	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1715303	35900600	45294610	214	28522											
TNS4	84951	genome.wustl.edu	37	chr17	38652532	38652532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggccatcagggcctgggctCcccagccttccgtggtgtag	4	8	15	14	1	1	0	1	0	0	0	3	0	3	0	6	4	1	2	6	4	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:38652532C>T	ENST00000254051.6	-	2	304	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	49					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGCCTGGGCTCCCCAGCCTTC	0.687																																																	0													24	27	26					17																	38652532		2203	4299	6502	SO:0001583	missense	0			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"SH2 domain containing"	24352	protein-coding gene	gene with protein product	"C terminal tensin like"	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.146G>A	17.37:g.38652532C>T	ENSP00000254051:p.Gly49Glu		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2	p.G49E	ENST00000254051.6	37	c.146	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456913	0.63401	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.20881	2.04	5.45	4.48	0.54585	.	.	.	.	.	T	0.18425	0.0442	L	0.27053	0.805	0.34373	D	0.692284	D	0.56968	0.978	P	0.47134	0.539	T	0.12268	-1.0554	9	0.56958	D	0.05	-15.4802	9.1604	0.37019	0.0:0.9034:0.0:0.0966	.	49	Q8IZW8	TENS4_HUMAN	E	49	ENSP00000254051:G49E	ENSP00000254051:G49E	G	-	2	0	TNS4	35906058	0.979000	0.34478	1.000000	0.80357	0.993000	0.82548	1.241000	0.32743	2.544000	0.85801	0.650000	0.86243	GGA	TNS4	-	NULL	ENSG00000131746		0.687	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	-	0	9	0	C	NM_032865		38652532	-1	tier1	-	no_errors	ENST00000254051	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	T	T	38652532	C	T	38652532	3	4	100	1	0	0	0	0	1	0	0	0	16392	855	30	3	2049	3	TNS4	17	38652532	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2751932	38652532	42542678	215	28523											
KRT33A	3883	genome.wustl.edu	37	chr17	39505616	39505616	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttggtcctgaagtcatctGaggccagcttggcattgtcg	7	12	12	10	1	2	2	1	2	1	0	4	2	3	2	2	3	1	2	2	3	1	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:39505616G>C	ENST00000007735.3	-	2	457	c.413C>G	c.(412-414)tCa>tGa	p.S138*		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	138	Coil 1B.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.S138L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAAGTCATCTGAGGCCAGCTT	0.502																																																	1	Substitution - Missense(1)	urinary_tract(1)											111	102	105					17																	39505616		2203	4300	6503	SO:0001587	stop_gained	0			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"-", "Intermediate filaments type I, keratins (acidic)"	6450	protein-coding gene	gene with protein product	"hard keratin type I 3I"	602761	"keratin, hair, acidic, 3A"	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.413C>G	17.37:g.39505616G>C	ENSP00000007735:p.Ser138*		B2RA87|Q6NTB9|Q6ZZB9	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S138*	ENST00000007735.3	37	c.413	CCDS11388.1	17	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917076	0.92249	.	.	ENSG00000006059	ENST00000007735	.	.	.	5.03	5.03	0.67393	.	0.811364	0.10899	N	0.621819	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8727	0.88815	0.0:0.0:1.0:0.0	.	.	.	.	X	138	.	ENSP00000007735:S138X	S	-	2	0	KRT33A	36759142	0.996000	0.38824	0.094000	0.20943	0.892000	0.51952	7.543000	0.82106	2.760000	0.94817	0.655000	0.94253	TCA	KRT33A	-	pfam_IF,prints_Keratin_I	ENSG00000006059		0.502	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33A	HGNC	protein_coding	OTTHUMT00000257295.1	-	0	94	0	G	NM_004138		39505616	-1	tier1	-	no_errors	ENST00000007735	ensembl	human	known	74_37	nonsense	28.71	72	29	SNP	0.587	C	C	39505616	G	C	39505616	4	2	100	1	0	0	0	0	0	1	0	0	8496	1294	45	5	825	5	KRT33A	17	39505616	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	853084	39505616	41689594	216	28524											
KRT17	3872	genome.wustl.edu	37	chr17	39777080	39777080	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctggatctgggacagctGcacgcagtagcggttctctg	6	9	13	13	2	2	0	0	0	2	0	3	2	2	2	2	3	3	5	2	3	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:39777080G>A	ENST00000311208.8	-	6	1079	c.1012C>T	c.(1012-1014)Cag>Tag	p.Q338*	JUP_ENST00000540235.1_Nonsense_Mutation_p.Q497*	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	338	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TGGGACAGCTGCACGCAGTAG	0.602																																					Pancreas(92;1242 2086 39193 50508)												0													55	56	56					17																	39777080		2203	4300	6503	SO:0001587	stop_gained	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"-", "Intermediate filaments type I, keratins (acidic)"	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1012C>T	17.37:g.39777080G>A	ENSP00000308452:p.Gln338*		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Nonsense_Mutation	SNP	pfam_IF,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.Q497*	ENST00000311208.8	37	c.1489	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752318	0.89753	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	.	.	.	4.02	4.02	0.46733	.	0.000000	0.44688	D	0.000424	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.3517	0.55153	0.0:0.309:0.691:0.0	.	.	.	.	X	338;497	.	ENSP00000441751:Q497X	Q	-	1	0	JUP;KRT17	37030606	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	1.734000	0.38166	2.246000	0.74042	0.561000	0.74099	CAG	JUP	-	pfam_IF,prints_Keratin_I	ENSG00000173801		0.602	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	-	0	61	0	G	NM_000422		39777080	-1	tier1	-	no_errors	ENST00000540235	ensembl	human	known	74_37	nonsense	38.10	51	32	SNP	0.995	A	A	39777080	G	A	39777080	4	1	100	1	0	0	0	0	0	1	0	0	8481	1328	46	3	298	3	KRT17	17	39777080	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	271464	39777080	41418130	217	28525											
C17orf57	124989	genome.wustl.edu	37	chr17	45451874	45451874	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctttgaatgaaattacttCagacagaaagttatcaagtg	16	12	7	6	0	2	4	2	2	0	2	2	4	2	4	1	0	1	1	1	0	6	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:45451874C>G	ENST00000331493.2	+	12	1325	c.914C>G	c.(913-915)tCa>tGa	p.S305*	EFCAB13_ENST00000517484.1_Nonsense_Mutation_p.S209*	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	305						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GAAATTACTTCAGACAGAAAG	0.279																																																	0													32	36	35					17																	45451874		2187	4249	6436	SO:0001587	stop_gained	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"EF-hand domain containing"	26864	protein-coding gene	gene with protein product			"chromosome 17 open reading frame 57"	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.914C>G	17.37:g.45451874C>G	ENSP00000332111:p.Ser305*		G3V128|Q49AG9	Nonsense_Mutation	SNP	NULL	p.S305*	ENST00000331493.2	37	c.914	CCDS11512.1	17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673861	0.88445	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	.	.	.	4.02	2.02	0.26589	.	1.797520	0.03299	N	0.188711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.4134	5.6839	0.17792	0.0:0.7571:0.0:0.2429	.	.	.	.	X	305;209;257	.	ENSP00000332111:S305X	S	+	2	0	C17orf57	42806873	0.055000	0.20627	0.348000	0.25681	0.252000	0.25951	0.079000	0.14782	1.031000	0.39867	0.585000	0.79938	TCA	EFCAB13	-	NULL	ENSG00000178852		0.279	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFCAB13	HGNC	protein_coding	OTTHUMT00000380147.4	-	0	49	0	C	NM_152347		45451874	1	tier1	-	no_errors	ENST00000331493	ensembl	human	known	74_37	nonsense	32.00	34	16	SNP	0.067	G	G	45451874	C	G	45451874	4	3	100	1	0	0	0	0	0	1	0	0	1871	838	29	5	948	5	C17orf57	17	45451874	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	5674794	45451874	35743336	218	28526											
NFE2L1	4779	genome.wustl.edu	37	chr17	46134843	46134843	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacagcagtggcaagatctCatgtccatcatggaaatgca	14	8	10	9	0	2	1	2	0	1	1	4	3	3	2	1	2	3	3	1	2	3	0	rs374254839		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:46134843C>T	ENST00000362042.3	+	5	1567	c.951C>T	c.(949-951)ctC>ctT	p.L317L	NFE2L1_ENST00000536222.1_Silent_p.L161L|NFE2L1_ENST00000357480.5_Silent_p.L287L|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Silent_p.L287L|NFE2L1_ENST00000583378.1_Silent_p.L118L|NFE2L1_ENST00000582155.1_Silent_p.L129L|NFE2L1_ENST00000361665.3_Silent_p.L306L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	317					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGCAAGATCTCATGTCCATCA	0.478																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	123	104	110		951	3.7	1	17		110	0,8600		0,0,4300	no	coding-synonymous	NFE2L1	NM_003204.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		317/773	46134843	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"basic leucine zipper proteins"	7781	protein-coding gene	gene with protein product		163260	"nuclear factor (erythroid-derived 2)-like 1"	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.951C>T	17.37:g.46134843C>T			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L317	ENST00000362042.3	37	c.951	CCDS11524.1	17																																																																																			NFE2L1	-	NULL	ENSG00000082641		0.478	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	-	0	42	0	C	NM_003204		46134843	1	tier1	-	no_errors	ENST00000362042	ensembl	human	known	74_37	silent	38.64	27	17	SNP	1.000	T	T	46134843	C	T	46134843	2	4	100	1	0	0	0	0	0	0	0	1	10406	813	29	3		3	NFE2L1	17	46134843	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	682969	46134843	35060367	219	28527											
SNF8	11267	genome.wustl.edu	37	chr17	47007863	47007863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggcttctctggcctcctCagctgtaatctcctgggagt	5	12	12	12	0	3	0	1	0	2	0	6	2	4	1	3	3	1	3	3	3	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:47007863C>G	ENST00000502492.1	-	8	1133	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Missense_Mutation_p.E250Q|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	251					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|lung(1)	3						CTGGCCTCCTCAGCTGTAATC	0.592																																																	0													26	25	25					17																	47007863		2203	4300	6503	SO:0001583	missense	0			AF156102	CCDS11541.1	17q21.32	2013-06-05	2013-06-05		ENSG00000159210	ENSG00000159210			17028	protein-coding gene	gene with protein product		610904	"SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)"			10419521, 15329733	Standard	NM_007241		Approved	EAP30, VPS22, Dot3	uc002ioj.3	Q96H20	OTTHUMG00000160569	ENST00000502492.1:c.751G>C	17.37:g.47007863C>G	ENSP00000421380:p.Glu251Gln		Q8IXY3|Q9UN50	Missense_Mutation	SNP	pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8	p.E251Q	ENST00000502492.1	37	c.751	CCDS11541.1	17	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414837	0.83449	.	.	ENSG00000159210	ENST00000502492;ENST00000290330	.	.	.	5.87	5.87	0.94306	.	0.096709	0.64402	D	0.000001	T	0.54208	0.1844	N	0.19112	0.55	0.80722	D	1	B;B	0.28850	0.225;0.144	B;B	0.31946	0.138;0.065	T	0.54964	-0.8214	9	0.87932	D	0	-21.2329	20.1777	0.98189	0.0:1.0:0.0:0.0	.	250;251	Q96H20-2;Q96H20	.;SNF8_HUMAN	Q	251;250	.	ENSP00000290330:E250Q	E	-	1	0	SNF8	44362862	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.592000	0.82676	2.941000	0.99782	0.655000	0.94253	GAG	SNF8	-	NULL	ENSG00000159210		0.592	SNF8-001	KNOWN	basic|CCDS	protein_coding	SNF8	HGNC	protein_coding	OTTHUMT00000361172.1	-	0	43	0	C	NM_007241		47007863	-1	tier1	-	no_errors	ENST00000502492	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	G	G	47007863	C	G	47007863	3	3	100	1	0	0	0	0	1	0	0	0	14891	835	29	5	29	5	SNF8	17	47007863	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	873020	47007863	34187347	220	28528											
BZRAP1	9256	genome.wustl.edu	37	chr17	56400114	56400114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccccaggagctggcccctCagctccgcattctcccactc	6	7	7	21	1	2	0	1	0	1	0	5	1	3	1	6	2	2	3	6	2	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:56400114C>T	ENST00000343736.4	-	9	1381	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000268893.6_Silent_p.L346L|BZRAP1_ENST00000355701.3_Silent_p.L406L			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	406						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGGCCCCTCAGCTCCGCAT	0.652																																																	0													50	49	49					17																	56400114		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1218G>A	17.37:g.56400114C>T			O75111|Q8N5W3	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.L406	ENST00000343736.4	37	c.1218	CCDS11605.1	17																																																																																			BZRAP1	-	NULL	ENSG00000005379		0.652	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	-	0	30	0	C	NM_004758		56400114	-1	tier1	-	no_errors	ENST00000355701	ensembl	human	known	74_37	silent	34.48	19	10	SNP	1.000	T	T	56400114	C	T	56400114	2	4	100	1	0	0	0	0	0	0	0	1	1581	813	29	3		3	BZRAP1	17	56400114	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	9392251	56400114	24795096	221	28529											
MTMR4	9110	genome.wustl.edu	37	chr17	56581711	56581711	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggggaactgcttaagcaActgatgaacagaatcaagcc	15	6	11	9	0	1	3	1	2	0	1	1	4	1	4	1	2	6	3	1	2	6	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:56581711A>T	ENST00000323456.5	-	13	1562	c.1438T>A	c.(1438-1440)Ttg>Atg	p.L480M	MTMR4_ENST00000579925.1_Missense_Mutation_p.L480M	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	480	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTTAAGCAACTGATGAACA	0.512																																																	0													88	87	88					17																	56581711		2203	4300	6503	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1438T>A	17.37:g.56581711A>T	ENSP00000325285:p.Leu480Met		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.L480M	ENST00000323456.5	37	c.1438	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	A	19.19	3.779750	0.70107	.	.	ENSG00000108389	ENST00000323456	D	0.94723	-3.5	5.1	-1.45	0.08828	Myotubularin phosphatase domain (1);	0.071434	0.56097	D	0.000024	D	0.95636	0.8581	M	0.71296	2.17	0.58432	D	0.99999	D	0.89917	1.0	D	0.72338	0.977	D	0.93281	0.6660	10	0.42905	T	0.14	.	11.5733	0.50848	0.2927:0.0:0.7073:0.0	.	480	Q9NYA4	MTMR4_HUMAN	M	480	ENSP00000325285:L480M	ENSP00000325285:L480M	L	-	1	2	MTMR4	53936710	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	2.353000	0.44089	-0.162000	0.10964	0.383000	0.25322	TTG	MTMR4	-	NULL	ENSG00000108389		0.512	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1		0	36	0	A	NM_004687		56581711	-1			no_errors	ENST00000323456	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	T	T	56581711	A	T	56581711	3	4	100	1	0	0	0	0	1	0	0	0	9984	40	2	5	2177	5	MTMR4	17	56581711	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	181597	56581711	24613499	222	28530											
MED13	9969	genome.wustl.edu	37	chr17	60032879	60032880	+	Frame_Shift_Ins	INS	-	-	A																															tatttagctgagatgtctgcINSatatttagagtcgtgcttct																										TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:60032879_60032880insA	ENST00000397786.2	-	26	5907_5908	c.5831_5832insT	c.(5830-5832)atgfs	p.M1944fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1944					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGATGTCTGCATATTTAGAGT	0.347																																																	0																																										SO:0001589	frameshift_variant	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"thyroid hormone receptor associated protein 1"	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5832dupT	17.37:g.60032880_60032880dupA	ENSP00000380888:p.Met1944fs		B2RU05|O60334	Frame_Shift_Ins	INS	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.M1944fs	ENST00000397786.2	37	c.5832_5831	CCDS42366.1	17																																																																																			MED13	-	pfam_Mediator_Med13	ENSG00000108510		0.347	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1		0	44	0	-	NM_005121		60032880	-1	tier1		no_errors	ENST00000397786	ensembl	human	known	74_37	frame_shift_ins	44.83	32	26	INS	1.000:1.000	A	A	60032880	-	A	60032879	7	5	100	1	0	1	1	0	0	0	0	0	9468	710	25	0	712	0	MED13	17	60032879	Frame_Shift_Ins	INS	-	TCGA-LN-A49M-01A-21D-A27G-09	3451168	60032879	21162331	223	28531											
STRADA	92335	genome.wustl.edu	37	chr17	61780982	61780982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaactcccaatcgtccacctCcagctcttccaggtttgtta	8	12	6	15	1	1	0	0	0	1	0	6	1	5	0	5	1	2	3	5	1	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr17:61780982C>G	ENST00000336174.6	-	13	1385	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q	STRADA_ENST00000375840.4_Missense_Mutation_p.E367Q|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000447001.3_3'UTR|STRADA_ENST00000392950.4_3'UTR|LIMD2_ENST00000578402.1_5'Flank|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000580039.1_5'Flank	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	425					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TCGTCCACCTCCAGCTCTTCC	0.577																																																	0													64	58	60					17																	61780982		2203	4300	6503	SO:0001583	missense	0			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"STE20-like pseudokinase"	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.1273G>C	17.37:g.61780982C>G	ENSP00000336655:p.Glu425Gln		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E425Q	ENST00000336174.6	37	c.1273	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969039	0.74131	.	.	ENSG00000125695	ENST00000336174;ENST00000375840	T;T	0.56444	0.48;0.46	4.99	4.99	0.66335	.	0.204775	0.51477	D	0.000090	T	0.41858	0.1177	N	0.19112	0.55	0.80722	D	1	B;B;B	0.32245	0.089;0.255;0.361	B;B;B	0.33042	0.047;0.157;0.092	T	0.34204	-0.9838	10	0.38643	T	0.18	.	18.475	0.90790	0.0:1.0:0.0:0.0	.	367;388;425	Q5JPI2;Q7RTN6-3;Q7RTN6	.;.;STRAA_HUMAN	Q	425;367	ENSP00000336655:E425Q;ENSP00000365000:E367Q	ENSP00000336655:E425Q	E	-	1	0	STRADA	59134714	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.254000	0.78329	2.592000	0.87571	0.555000	0.69702	GAG	STRADA	-	NULL	ENSG00000266173		0.577	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	-	0	30	0	C			61780982	-1	tier1	-	no_errors	ENST00000336174	ensembl	human	known	74_37	missense	50.00	28	28	SNP	1.000	G	G	61780982	C	G	61780982	3	3	100	1	0	0	0	0	1	0	0	0	15371	864	30	5	26	5	STRADA	17	61780982	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1748103	61780982	19414228	224	28532											
EPB41L3	23136	genome.wustl.edu	37	chr18	5406961	5406961	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcatcttgagttttttCtagctcctatattcagaaca	10	16	6	9	0	4	2	2	1	2	1	5	2	5	2	1	1	2	2	1	1	4	8			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr18:5406961C>A	ENST00000341928.2	-	16	2504	c.2164G>T	c.(2164-2166)Gaa>Taa	p.E722*	EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E553*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E722*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E541*|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E541*|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	722	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGAGTTTTTTCTAGCTCCTAT	0.348																																																	0													160	138	146					18																	5406961		2203	4300	6503	SO:0001587	stop_gained	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2164G>T	18.37:g.5406961C>A	ENSP00000343158:p.Glu722*		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.E722*	ENST00000341928.2	37	c.2164	CCDS11838.1	18	.	.	.	.	.	.	.	.	.	.	C	41	8.973714	0.99021	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	.	.	.	5.66	5.66	0.87406	.	0.324869	0.35436	N	0.003215	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.7538	0.96281	0.0:1.0:0.0:0.0	.	.	.	.	X	722;432;553;432;722;541	.	ENSP00000343158:E722X	E	-	1	0	EPB41L3	5396961	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.359000	0.66074	2.690000	0.91761	0.655000	0.94253	GAA	EPB41L3	-	pirsf_Band_41_protein,pfam_SAB_dom	ENSG00000082397		0.348	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	-	0	100	0	C	NM_012307		5406961	-1	tier1	-	no_errors	ENST00000341928	ensembl	human	known	74_37	nonsense	30.30	69	30	SNP	1.000	A	A	5406961	C	A	5406961	4	1	100	1	0	0	0	0	0	1	0	0	5170	922	32	3	1127	3	EPB41L3	18	5406961	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09		5406961	72670287	225	28533											
DCC	1630	genome.wustl.edu	37	chr18	50731660	50731660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caattcttattacctgggaaCcccctgcctatgcaaacggt	10	11	7	13	1	1	0	0	0	1	0	1	1	1	1	4	2	5	1	4	2	6	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr18:50731660C>T	ENST00000442544.2	+	10	2264	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	DCC_ENST00000581580.1_Missense_Mutation_p.P205S|DCC_ENST00000412726.1_Missense_Mutation_p.P398S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	550	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TACCTGGGAACCCCCTGCCTA	0.453																																																	0													195	191	193					18																	50731660		2203	4300	6503	SO:0001583	missense	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1648C>T	18.37:g.50731660C>T	ENSP00000389140:p.Pro550Ser			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P550S	ENST00000442544.2	37	c.1648	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754774	0.31046	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.61274	0.12;0.12	5.78	4.89	0.63831	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.068983	0.56097	D	0.000021	T	0.64382	0.2593	M	0.65677	2.01	0.42783	D	0.993873	P;P;P	0.37731	0.566;0.566;0.607	P;P;P	0.46208	0.507;0.507;0.507	T	0.64343	-0.6430	10	0.38643	T	0.18	.	14.1082	0.65104	0.0:0.6535:0.3465:0.0	.	398;398;550	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	S	550;483;398	ENSP00000389140:P550S;ENSP00000397322:P398S	ENSP00000304146:P483S	P	+	1	0	DCC	48985658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.522000	0.35921	1.330000	0.45394	0.655000	0.94253	CCC	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187323		0.453	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	40	0	C	NM_005215		50731660	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	48.39	16	15	SNP	1.000	T	T	50731660	C	T	50731660	3	4	100	1	0	0	0	0	1	0	0	0	4291	507	18	3	1686	3	DCC	18	50731660	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	45324699	50731660	27345588	226	28534											
DSEL	92126	genome.wustl.edu	37	chr18	65180887	65180887	+	Frame_Shift_Del	DEL	A	A	-																															cagttctttggaagccaggtAaaagggtggcataatagaac																										TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr18:65180887delA	ENST00000310045.7	-	2	2462	c.989delT	c.(988-990)ttafs	p.L330fs	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	320					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAGCCAGGTAAAAGGGTGGC	0.378																																																	0													70	74	73					18																	65180887		2203	4300	6503	SO:0001589	frameshift_variant	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"chromosome 18 open reading frame 4"	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.989delT	18.37:g.65180887delA	ENSP00000310565:p.Leu330fs		Q17RH1|Q6P5Z3	Frame_Shift_Del	DEL	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.L330fs	ENST00000310045.7	37	c.989	CCDS11995.1	18																																																																																			DSEL	-	superfamily_Chondroitin_lyas	ENSG00000171451		0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1		0	49	0	A	NM_032160		65180887	-1	tier1		no_errors	ENST00000310045	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	0.996	-	-	65180887	A	-	65180887	7	5	100	1	0	1	0	1	0	0	0	0	4789	372	13	0	2683	0	DSEL	18	65180887	Frame_Shift_Del	DEL	A	TCGA-LN-A49M-01A-21D-A27G-09	14449227	65180887	12896361	227	28535											
FUT3	2525	genome.wustl.edu	37	chr19	5844652	5844652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaaaggccatgtccgtaGcaggatcaggagggtggggc	9	6	19	7	1	1	0	1	0	0	0	2	3	2	3	2	7	1	2	2	7	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:5844652G>T	ENST00000303225.6	-	3	833	c.199C>A	c.(199-201)Cta>Ata	p.L67I	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.L67I|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589620.1_Missense_Mutation_p.L67I|FUT3_ENST00000589918.1_Missense_Mutation_p.L67I	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	67					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CATGTCCGTAGCAGGATCAGG	0.647																																					Esophageal Squamous(82;745 1728 24593 44831)												0													48	49	49					19																	5844652		2203	4300	6503	SO:0001583	missense	0				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"CD molecules", "Blood group antigens", "Fucosyltransferases"	4014	protein-coding gene	gene with protein product		111100	"fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.199C>A	19.37:g.5844652G>T	ENSP00000305603:p.Leu67Ile		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.L67I	ENST00000303225.6	37	c.199	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683909	0.47991	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.27557	1.66;1.66	2.33	2.33	0.28932	.	0.000000	0.46145	D	0.000319	T	0.41488	0.1161	L	0.51853	1.615	0.32133	N	0.586525	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.43294	-0.9400	10	0.28530	T	0.3	.	6.7649	0.23560	0.0:0.0:0.721:0.279	.	67;67;67;67	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	I	67	ENSP00000305603:L67I;ENSP00000416443:L67I	ENSP00000305603:L67I	L	-	1	2	FUT3	5795652	0.996000	0.38824	0.491000	0.27477	0.089000	0.18198	1.098000	0.31000	1.225000	0.43566	0.205000	0.17691	CTA	FUT3	-	pfam_Glyco_trans_10	ENSG00000171124		0.647	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1		0	16	0	G	NM_000149		5844652	-1			no_errors	ENST00000303225	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T	T	5844652	G	T	5844652	3	4	100	1	0	0	0	0	1	0	0	0	6129	962	34	3	890	3	FUT3	19	5844652	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		5844652	53284331	228	28536											
ELAVL1	1994	genome.wustl.edu	37	chr19	8032642	8032642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgcctccgaccgtttgtCaaaccggataaacgcaaccc	10	9	7	15	4	2	0	1	0	1	0	3	2	3	1	5	1	4	2	5	1	4	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:8032642C>G	ENST00000407627.2	-	5	592	c.463G>C	c.(463-465)Gac>Cac	p.D155H	ELAVL1_ENST00000351593.5_Missense_Mutation_p.D182H|ELAVL1_ENST00000596459.1_Missense_Mutation_p.D155H|ELAVL1_ENST00000593807.1_Intron	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	155	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GACCGTTTGTCAAACCGGATA	0.463																																																	0													110	91	97					19																	8032642		2203	4300	6503	SO:0001583	missense	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"RNA binding motif (RRM) containing"	3312	protein-coding gene	gene with protein product	"embryonic lethal, abnormal vision, drosophila, homolog-like 1", "Hu antigen R"	603466	"ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.463G>C	19.37:g.8032642C>G	ENSP00000385269:p.Asp155His		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.D182H	ENST00000407627.2	37	c.544	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021009	0.93462	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.17213	2.29;2.29	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24657	-1.0154	10	0.87932	D	0	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	155	Q15717	ELAV1_HUMAN	H	155;182	ENSP00000385269:D155H;ENSP00000264073:D182H	ENSP00000264073:D182H	D	-	1	0	ELAVL1	7938642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC	ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF	ENSG00000066044		0.463	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	-	0	52	0	C	NM_001419		8032642	-1	tier1	-	no_errors	ENST00000351593	ensembl	human	known	74_37	missense	45.59	37	31	SNP	1.000	G	G	8032642	C	G	8032642	3	3	100	1	0	0	0	0	1	0	0	0	5065	826	29	5	525	5	ELAVL1	19	8032642	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2187990	8032642	51096341	229	28537											
MUC16	94025	genome.wustl.edu	37	chr19	9073176	9073176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaagcaacagaagaaGgtaaggttgtgacaaggaca	17	6	14	4	0	0	4	0	2	0	2	0	5	0	5	0	3	2	3	0	3	6	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:9073176G>T	ENST00000397910.4	-	3	14473	c.14270C>A	c.(14269-14271)cCt>cAt	p.P4757H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4759	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P4757L(2)|p.P4757R(2)|p.P390R(1)|p.P390L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACAGAAGAAGGTAAGGTTGT	0.488																																																	6	Substitution - Missense(6)	large_intestine(3)|endometrium(3)											111	106	108					19																	9073176		2090	4211	6301	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14270C>A	19.37:g.9073176G>T	ENSP00000381008:p.Pro4757His		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P4757H	ENST00000397910.4	37	c.14270	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.899	-0.228034	0.06022	.	.	ENSG00000181143	ENST00000397910	T	0.25579	1.79	1.48	1.48	0.22813	.	.	.	.	.	T	0.19327	0.0464	L	0.29908	0.895	.	.	.	D	0.61697	0.99	P	0.45310	0.476	T	0.23797	-1.0178	8	0.87932	D	0	.	6.3871	0.21566	0.0:0.0:1.0:0.0	.	4757	B5ME49	.	H	4757	ENSP00000381008:P4757H	ENSP00000381008:P4757H	P	-	2	0	MUC16	8934176	0.001000	0.12720	0.003000	0.11579	0.030000	0.12068	0.512000	0.22755	1.120000	0.41904	0.306000	0.20318	CCT	MUC16	-	NULL	ENSG00000181143		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	52	0	G	NM_024690		9073176	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	32.81	43	21	SNP	0.003	T	T	9073176	G	T	9073176	3	4	100	1	0	0	0	0	1	0	0	0	10011	1000	35	3	29581	3	MUC16	19	9073176	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1040534	9073176	50055807	230	28538											
SLC44A2	57153	genome.wustl.edu	37	chr19	10747198	10747198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgcctcctactactgggCcctgcgcaagccggacgacc	6	8	10	17	3	0	0	0	0	0	0	1	2	1	1	5	2	5	1	5	2	3	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:10747198C>T	ENST00000335757.5	+	15	1809	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	SLC44A2_ENST00000586078.1_Missense_Mutation_p.A478V|SLC44A2_ENST00000407327.4_Missense_Mutation_p.A476V			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	478					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TACTACTGGGCCCTGCGCAAG	0.657																																																	0													48	50	49					19																	10747198		2203	4299	6502	SO:0001583	missense	0			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"Solute carriers"	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1433C>T	19.37:g.10747198C>T	ENSP00000336888:p.Ala478Val		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.A478V	ENST00000335757.5	37	c.1433	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.890220	0.97068	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.25414	1.8;1.8	5.8	5.8	0.92144	.	0.047152	0.85682	D	0.000000	T	0.60766	0.2294	M	0.89658	3.05	0.80722	D	1	D;P;D	0.71674	0.998;0.941;0.998	D;P;D	0.74348	0.983;0.854;0.975	T	0.67852	-0.5563	10	0.87932	D	0	-35.2271	18.8323	0.92145	0.0:1.0:0.0:0.0	.	478;478;476	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	V	476;478;478	ENSP00000385135:A476V;ENSP00000336888:A478V	ENSP00000336888:A478V	A	+	2	0	SLC44A2	10608198	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	7.744000	0.85034	2.755000	0.94549	0.655000	0.94253	GCC	SLC44A2	-	pfam_Choline_transptr-like	ENSG00000129353		0.657	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	-	0	45	0	C			10747198	1	tier1	-	no_errors	ENST00000335757	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	T	T	10747198	C	T	10747198	3	4	100	1	0	0	0	0	1	0	0	0	14681	739	26	3	1526	3	SLC44A2	19	10747198	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1674022	10747198	48381785	231	28539											
ZNF791	163049	genome.wustl.edu	37	chr19	12739636	12739636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaactttcgaagacacatGatcacccacactggagacgg	14	6	10	11	2	1	4	1	1	0	3	2	7	1	4	1	2	1	0	1	2	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:12739636G>A	ENST00000343325.4	+	4	1455	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Missense_Mutation_p.M322I|ZNF791_ENST00000458122.3_Missense_Mutation_p.M399I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GAAGACACATGATCACCCACA	0.413																																																	0													105	108	107					19																	12739636		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"Zinc fingers, C2H2-type", "-"	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1293G>A	19.37:g.12739636G>A	ENSP00000342974:p.Met431Ile		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M431I	ENST00000343325.4	37	c.1293	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	8.251	0.809033	0.16537	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.35605	1.3;1.3;1.3	1.83	0.729	0.18266	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27524	0.0676	L	0.52823	1.66	0.09310	N	1	P	0.42735	0.788	B	0.36766	0.232	T	0.19811	-1.0294	9	0.87932	D	0	.	4.0546	0.09811	0.2351:0.0:0.7649:0.0	.	431	Q3KP31	ZN791_HUMAN	I	431;399;322	ENSP00000342974:M431I;ENSP00000441761:M399I;ENSP00000441038:M322I	ENSP00000342974:M431I	M	+	3	0	ZNF791	12600636	0.000000	0.05858	0.026000	0.17262	0.872000	0.50106	0.081000	0.14823	0.104000	0.17725	0.491000	0.48974	ATG	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.413	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0	80	0	G	NM_153358		12739636	1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	37.38	67	40	SNP	0.009	A	A	12739636	G	A	12739636	3	1	100	1	0	0	0	0	1	0	0	0	18211	1290	45	3	1307	3	ZNF791	19	12739636	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1992438	12739636	46389347	232	28540											
RTBDN	83546	genome.wustl.edu	37	chr19	12940696	12940696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggacctggcttggagtGggcggctccctccacaggct	4	8	16	13	1	0	0	0	0	0	0	2	2	2	2	3	6	0	4	3	6	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:12940696G>C	ENST00000458671.2	-	2	250	c.98C>G	c.(97-99)cCa>cGa	p.P33R	RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000589272.1_Missense_Mutation_p.P65R|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Missense_Mutation_p.P43R|RTBDN_ENST00000322912.5_Missense_Mutation_p.P65R	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	33						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGCTTGGAGTGGGCGGCTCCC	0.637																																																	0													62	49	53					19																	12940696		2203	4300	6503	SO:0001583	missense	0			AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.98C>G	19.37:g.12940696G>C	ENSP00000416375:p.Pro33Arg		F1T0I8|Q9BWT5	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.P65R	ENST00000458671.2	37	c.194	CCDS45994.1	19	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881497	0.33255	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.76709	-1.04;-1.04	3.74	1.56	0.23342	Folate receptor-like (1);	0.579476	0.15514	N	0.258381	T	0.77498	0.4139	M	0.65975	2.015	0.19300	N	0.99997	P;D;D	0.59357	0.926;0.971;0.985	P;P;P	0.53224	0.45;0.58;0.721	T	0.64664	-0.6354	10	0.33141	T	0.24	-46.0112	4.3658	0.11223	0.1182:0.0:0.6584:0.2234	.	65;33;43	Q9BSG5-2;Q9BSG5;F1T0I8	.;RTBDN_HUMAN;.	R	65;33	ENSP00000326253:P65R;ENSP00000416375:P33R	ENSP00000326253:P65R	P	-	2	0	RTBDN	12801696	0.001000	0.12720	0.084000	0.20598	0.804000	0.45430	-0.105000	0.10907	0.545000	0.28902	0.561000	0.74099	CCA	RTBDN	-	pfam_Folate_rcpt-like	ENSG00000132026		0.637	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RTBDN	HGNC	protein_coding	OTTHUMT00000451513.1	-	0	61	0	G	NM_031429		12940696	-1	tier1	-	no_errors	ENST00000322912	ensembl	human	known	74_37	missense	31.40	59	27	SNP	0.085	C	C	12940696	G	C	12940696	3	2	100	1	0	0	0	0	1	0	0	0	13762	1348	47	5	611	5	RTBDN	19	12940696	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	201060	12940696	46188287	233	28541											
SLC1A6	6511	genome.wustl.edu	37	chr19	15083545	15083545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggcgctgaccgtcagcaGaatgaaggcgtttcggcgca	9	6	14	12	6	1	3	1	2	0	1	2	3	1	3	1	3	1	4	1	3	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:15083545G>A	ENST00000221742.3	-	1	185	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	SLC1A6_ENST00000544886.2_Silent_p.L60L|SLC1A6_ENST00000430939.2_Missense_Mutation_p.S64F|SLC1A6_ENST00000598504.1_Silent_p.L60L|SLC1A6_ENST00000600144.1_Silent_p.L60L	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	60					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						ACCGTCAGCAGAATGAAGGCG	0.632																																																	0													29	29	29					19																	15083545		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"Solute carriers"	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.178C>T	19.37:g.15083545G>A			Q8N753	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.S64F	ENST00000221742.3	37	c.191	CCDS12321.1	19	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349519	0.24426	.	.	ENSG00000105143	ENST00000430939	T	0.74421	-0.84	4.46	2.27	0.28462	.	.	.	.	.	T	0.64929	0.2643	.	.	.	0.80722	D	1	B	0.25486	0.127	B	0.27887	0.084	T	0.61327	-0.7085	8	0.87932	D	0	-13.4289	6.4885	0.22103	0.2315:0.0:0.7685:0.0	.	64	E7EV13	.	F	64	ENSP00000409386:S64F	ENSP00000409386:S64F	S	-	2	0	SLC1A6	14944545	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	3.839000	0.55835	0.476000	0.27440	0.313000	0.20887	TCT	SLC1A6	-	NULL	ENSG00000105143		0.632	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	-	0	32	0	G	NM_005071		15083545	-1	tier1	-	no_errors	ENST00000430939	ensembl	human	putative	74_37	missense	17.86	23	5	SNP	1.000	A	A	15083545	G	A	15083545	2	1	100	1	0	0	0	0	0	0	0	1	14481	933	33	3		3	SLC1A6	19	15083545	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2142849	15083545	44045438	234	28542											
CASP14	23581	genome.wustl.edu	37	chr19	15164702	15164702	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatctcttcgaggccctGaacaacaagaactgccaggc	13	6	10	12	1	1	3	0	1	1	2	3	5	1	3	2	2	4	0	2	2	5	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:15164702G>T	ENST00000427043.3	+	4	644	c.336G>T	c.(334-336)ctG>ctT	p.L112L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Silent_p.L112L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	112					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TCGAGGCCCTGAACAACAAGA	0.562																																																	0													96	87	90					19																	15164702		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"apoptosis-related cysteine protease"	605848	"caspase 14, apoptosis-related cysteine protease"			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.336G>T	19.37:g.15164702G>T			O95823|Q3SYC9	Silent	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.L112	ENST00000427043.3	37	c.336	CCDS12323.1	19																																																																																			CASP14	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000105141		0.562	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP14	HGNC	protein_coding	OTTHUMT00000465663.1		0	18	0	G	NM_012114		15164702	1			no_errors	ENST00000221740	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.291	T	T	15164702	G	T	15164702	2	4	100	1	0	0	0	0	0	0	0	1	2677	1277	45	3		3	CASP14	19	15164702	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	81157	15164702	43964281	235	28543											
CPAMD8	27151	genome.wustl.edu	37	chr19	17038839	17038839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatgatggaggcggtggctCgctcagacccagggatggcg	7	6	18	10	4	1	2	1	1	0	1	2	5	1	4	1	6	0	2	1	6	0	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:17038839C>T	ENST00000443236.1	-	25	3522	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1117						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCGGTGGCTCGCTCAGACCC	0.617																																																	0													41	50	47					19																	17038839		2043	4177	6220	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3491G>A	19.37:g.17038839C>T	ENSP00000402505:p.Arg1164Gln		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.R1164Q	ENST00000443236.1	37	c.3491	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.28|16.28	3.077474|3.077474	0.55753|0.55753	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.02|3.02	3.02|3.02	0.34903|0.34903	.|.	.|0.311950	.|0.27861	.|U	.|0.017554	T|T	0.70133|0.70133	0.3189|0.3189	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|P	.|0.47162	.|0.54	T|T	0.76984|0.76984	-0.2756|-0.2756	5|9	.|0.46703	.|T	.|0.11	.|.	13.9882|13.9882	0.64348|0.64348	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1117	.|Q8IZJ3	.|CPMD8_HUMAN	K|Q	1175|1164	.|.	.|ENSP00000291440:R1164Q	E|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16899839|16899839	1.000000|1.000000	0.71417|0.71417	0.523000|0.523000	0.27875|0.27875	0.084000|0.084000	0.17831|0.17831	2.274000|2.274000	0.43390|0.43390	1.237000|1.237000	0.43756|0.43756	0.655000|0.655000	0.94253|0.94253	GAG|CGA	CPAMD8	-	NULL	ENSG00000160111		0.617	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0	38	0	C	NM_015692		17038839	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	27.08	35	13	SNP	1.000	T	T	17038839	C	T	17038839	3	4	100	1	0	0	0	0	1	0	0	0	3802	884	31	1	2379	1	CPAMD8	19	17038839	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1874137	17038839	42090144	236	28544											
ZNF14	7561	genome.wustl.edu	37	chr19	19823885	19823885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctactttcacagagtctctCaaccatatgacatctgtaaa	13	13	4	11	0	5	2	2	1	3	1	6	2	5	2	1	0	2	1	1	0	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:19823885C>G	ENST00000344099.3	-	4	343	c.205G>C	c.(205-207)Gag>Cag	p.E69Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CAGAGTCTCTCAACCATATGA	0.318																																																	0													88	85	86					19																	19823885		2203	4300	6503	SO:0001583	missense	0			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"Zinc fingers, C2H2-type", "-"	12924	protein-coding gene	gene with protein product		194556	"zinc finger protein 14 (KOX 6)"				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.205G>C	19.37:g.19823885C>G	ENSP00000340514:p.Glu69Gln		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E69Q	ENST00000344099.3	37	c.205	CCDS12409.1	19	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814027	0.50527	.	.	ENSG00000105708	ENST00000344099	T	0.06449	3.3	1.67	-2.03	0.07365	Krueppel-associated box (1);	.	.	.	.	T	0.03011	0.0089	N	0.13168	0.305	0.19945	N	0.999943	P	0.41188	0.741	B	0.37267	0.245	T	0.38499	-0.9658	9	0.39692	T	0.17	.	3.6554	0.08218	0.2793:0.4454:0.2753:0.0	.	69	P17017	ZNF14_HUMAN	Q	69	ENSP00000340514:E69Q	ENSP00000340514:E69Q	E	-	1	0	ZNF14	19684885	0.000000	0.05858	0.001000	0.08648	0.788000	0.44548	0.334000	0.19787	-0.549000	0.06191	-0.535000	0.04281	GAG	ZNF14	-	pfscan_Krueppel-associated_box	ENSG00000105708		0.318	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	-	0	49	0	C	NM_021030		19823885	-1	tier1	-	no_errors	ENST00000344099	ensembl	human	known	74_37	missense	26.98	46	17	SNP	0.673	G	G	19823885	C	G	19823885	3	3	100	1	0	0	0	0	1	0	0	0	17776	835	29	5	1727	5	ZNF14	19	19823885	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2785046	19823885	39305098	237	28545											
ZNF569	148266	genome.wustl.edu	37	chr19	37904952	37904952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtatgaattctcagatgtCtgatgaggtccaaagtctga	12	12	10	7	0	3	5	1	4	3	1	5	5	4	5	1	1	0	1	1	1	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:37904952C>G	ENST00000316950.6	-	6	1165	c.608G>C	c.(607-609)aGa>aCa	p.R203T	ZNF569_ENST00000392149.2_Missense_Mutation_p.R203T|ZNF569_ENST00000392150.2_Missense_Mutation_p.R44T	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCAGATGTCTGATGAGGTC	0.363																																																	0													66	67	67					19																	37904952		2203	4300	6503	SO:0001583	missense	0			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"Zinc fingers, C2H2-type", "-"	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.608G>C	19.37:g.37904952C>G	ENSP00000325018:p.Arg203Thr		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R203T	ENST00000316950.6	37	c.608	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	C	1.740	-0.491918	0.04322	.	.	ENSG00000196437	ENST00000316950;ENST00000392150	T;T	0.26223	1.75;3.2	3.73	1.36	0.22044	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40728	N	0.001039	T	0.14874	0.0359	N	0.25286	0.73	0.09310	N	1	B;P	0.40066	0.19;0.701	B;P	0.44696	0.055;0.458	T	0.11446	-1.0587	10	0.12103	T	0.63	.	3.7682	0.08630	0.1617:0.5774:0.1586:0.1023	.	44;203	Q17RR6;Q5MCW4	.;ZN569_HUMAN	T	203;44	ENSP00000325018:R203T;ENSP00000375993:R44T	ENSP00000325018:R203T	R	-	2	0	ZNF569	42596792	0.000000	0.05858	0.890000	0.34922	0.967000	0.64934	-4.213000	0.00273	0.913000	0.36797	0.591000	0.81541	AGA	ZNF569	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196437		0.363	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	-	0	55	0	C	NM_152484		37904952	-1	tier1	-	no_errors	ENST00000316950	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.007	G	G	37904952	C	G	37904952	3	3	100	1	0	0	0	0	1	0	0	0	18048	913	32	5	1456	5	ZNF569	19	37904952	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	18081067	37904952	21224031	238	28546											
RYR1	6261	genome.wustl.edu	37	chr19	39062663	39062663	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtccccatttcaggtctCagactctccaccaggggagg	7	10	10	14	0	4	1	2	0	3	1	7	2	5	2	4	4	0	0	4	4	0	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:39062663C>G	ENST00000359596.3	+	95	13751	c.13751C>G	c.(13750-13752)tCa>tGa	p.S4584*	RYR1_ENST00000360985.3_Nonsense_Mutation_p.S4579*|RYR1_ENST00000355481.4_Nonsense_Mutation_p.S4579*			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4584					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TTTCAGGTCTCAGACTCTCCA	0.592																																																	0													64	62	63					19																	39062663		2203	4300	6503	SO:0001587	stop_gained	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.13751C>G	19.37:g.39062663C>G	ENSP00000352608:p.Ser4584*		Q16314|Q16368|Q9NPK1|Q9P1U4	Nonsense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.S4584*	ENST00000359596.3	37	c.13751	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	C	55	23.627827	0.99956	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	.	.	.	5.76	4.73	0.59995	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1464	0.59463	0.0:0.9221:0.0:0.0779	.	.	.	.	X	4584;4579;4579	.	ENSP00000347667:S4579X	S	+	2	0	RYR1	43754503	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	4.875000	0.63072	2.724000	0.93272	0.561000	0.74099	TCA	RYR1	-	pfam_Ryanrecept_TM4-6	ENSG00000196218		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0	41	0	C			39062663	1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	nonsense	35.71	36	20	SNP	1.000	G	G	39062663	C	G	39062663	4	3	100	1	0	0	0	0	0	1	0	0	13813	838	29	5	14129	5	RYR1	19	39062663	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1157711	39062663	20066320	239	28547											
PSMC4	5704	genome.wustl.edu	37	chr19	40478056	40478056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcccctttcgtctaggatGagatcccagcactgtccgtg	7	12	9	13	2	1	1	0	1	1	1	5	3	4	2	4	1	1	1	4	1	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:40478056G>A	ENST00000157812.2	+	2	238	c.40G>A	c.(40-42)Gag>Aag	p.E14K	PSMC4_ENST00000455878.2_Missense_Mutation_p.E14K	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	14					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CGTCTAGGATGAGATCCCAGC	0.562																																					Colon(105;1478 1543 4034 6132 38638)												0													99	98	98					19																	40478056		2203	4300	6503	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.40G>A	19.37:g.40478056G>A	ENSP00000157812:p.Glu14Lys		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.E14K	ENST00000157812.2	37	c.40	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512381	0.64522	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95001	-3.38;-3.58	4.9	4.9	0.64082	.	0.278640	0.38663	N	0.001613	D	0.86973	0.6062	N	0.12182	0.205	0.80722	D	1	B;B	0.14012	0.009;0.006	B;B	0.14023	0.01;0.006	T	0.82311	-0.0520	10	0.08179	T	0.78	-3.934	15.617	0.76775	0.0:0.0:1.0:0.0	.	14;14	P43686-2;P43686	.;PRS6B_HUMAN	K	14	ENSP00000157812:E14K;ENSP00000413869:E14K	ENSP00000157812:E14K	E	+	1	0	PSMC4	45169896	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.965000	0.87945	2.544000	0.85801	0.561000	0.74099	GAG	PSMC4	-	NULL	ENSG00000013275		0.562	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	-	0	18	0	G	NM_006503		40478056	1	tier1	-	no_errors	ENST00000157812	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	A	A	40478056	G	A	40478056	3	1	100	1	0	0	0	0	1	0	0	0	12731	1291	45	3	46	3	PSMC4	19	40478056	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1415393	40478056	18650927	240	28548											
ZNF546	339327	genome.wustl.edu	37	chr19	40521329	40521329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaagaattcacactggtGagcttccatatgaatgtaag	15	11	8	7	0	2	3	2	2	0	1	3	3	3	3	1	1	1	2	1	1	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:40521329G>A	ENST00000347077.4	+	7	2368	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.E692K	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	718					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCACACTGGTGAGCTTCCATA	0.388																																																	0													95	92	93					19																	40521329		2203	4300	6503	SO:0001583	missense	0			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"Zinc fingers, C2H2-type", "-"	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.2152G>A	19.37:g.40521329G>A	ENSP00000339823:p.Glu718Lys		A8K913	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E718K	ENST00000347077.4	37	c.2152	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	g	20.6	4.015162	0.75161	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.24350	1.86	2.91	2.91	0.33838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41971	0.1182	L	0.49640	1.575	0.34528	D	0.708901	D	0.71674	0.998	D	0.71184	0.972	T	0.56360	-0.7992	9	0.66056	D	0.02	.	12.0227	0.53352	0.0:0.0:1.0:0.0	.	718	Q86UE3	ZN546_HUMAN	K	718;327	ENSP00000339823:E718K	ENSP00000339823:E718K	E	+	1	0	ZNF546	45213169	1.000000	0.71417	0.981000	0.43875	0.794000	0.44872	2.774000	0.47694	1.920000	0.55613	0.591000	0.81541	GAG	ZNF546	-	pfscan_Znf_C2H2	ENSG00000187187		0.388	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	-	0	39	0	G	NM_178544		40521329	1	tier1	-	no_errors	ENST00000347077	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	A	A	40521329	G	A	40521329	3	1	100	1	0	0	0	0	1	0	0	0	18026	1291	45	3	2170	3	ZNF546	19	40521329	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	43273	40521329	18607654	241	28549											
TRPM4	54795	genome.wustl.edu	37	chr19	49705305	49705305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggcgggcacctgcgtctCccagtatgccaactggctgg	6	7	13	15	2	1	0	0	0	1	0	2	0	1	0	4	4	3	3	4	4	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:49705305C>T	ENST00000252826.5	+	20	3164	c.3038C>T	c.(3037-3039)tCc>tTc	p.S1013F	TRPM4_ENST00000355712.5_Missense_Mutation_p.S659F|TRPM4_ENST00000427978.2_Missense_Mutation_p.S868F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1013					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		ACCTGCGTCTCCCAGTATGCC	0.617																																																	0													112	93	99					19																	49705305		2203	4300	6503	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3038C>T	19.37:g.49705305C>T	ENSP00000252826:p.Ser1013Phe		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.S1013F	ENST00000252826.5	37	c.3038	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397861	0.62177	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.73575	-0.76;-0.76;-0.76	4.05	3.0	0.34707	.	0.364033	0.22070	U	0.065044	T	0.72598	0.3480	L	0.50333	1.59	0.19300	N	0.99997	P;D;D;P	0.54207	0.94;0.965;0.965;0.855	P;P;P;P	0.51355	0.467;0.667;0.66;0.459	T	0.63457	-0.6633	10	0.56958	D	0.05	-24.2792	7.1504	0.25608	0.3194:0.5175:0.1631:0.0	.	659;839;868;1013	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	F	1013;868;659	ENSP00000252826:S1013F;ENSP00000407492:S868F;ENSP00000347944:S659F	ENSP00000252826:S1013F	S	+	2	0	TRPM4	54397117	.	.	0.044000	0.18714	0.562000	0.35680	.	.	0.807000	0.34208	0.467000	0.42956	TCC	TRPM4	-	NULL	ENSG00000130529		0.617	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	-	0	32	0	C	NM_017636		49705305	1	tier1	-	no_errors	ENST00000252826	ensembl	human	known	74_37	missense	29.41	36	15	SNP	0.211	T	T	49705305	C	T	49705305	3	4	100	1	0	0	0	0	1	0	0	0	16636	855	30	3	3116	3	TRPM4	19	49705305	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	9183976	49705305	9423678	242	28550											
LILRA6	79168	genome.wustl.edu	37	chr19	54744236	54744236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	7	7	15	12	3	1	1	1	1	0	0	2	2	2	2	3	4	1	4	3	4	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:54744236G>A	ENST00000396365.2	-	6	1211	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.A391V|LILRA6_ENST00000245621.5_Missense_Mutation_p.A391V|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	391	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A391V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.592																																																	1	Substitution - Missense(1)	endometrium(1)											68	96	87					19																	54744236		2203	4296	6499	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15495	protein-coding gene	gene with protein product			"leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1172C>T	19.37:g.54744236G>A	ENSP00000379651:p.Ala391Val			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A391V	ENST00000396365.2	37	c.1172	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015702	0.19355	.	.	ENSG00000244482	ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T	0.03242	4.0;4.0;4.0	2.39	-4.78	0.03209	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.213430	0.06219	N	0.686499	T	0.05318	0.0141	M	0.75085	2.285	0.09310	N	1	B;B;B	0.31817	0.241;0.271;0.341	B;B;B	0.28139	0.025;0.05;0.086	T	0.07947	-1.0746	10	0.46703	T	0.11	.	5.9955	0.19491	0.0:0.3583:0.4208:0.221	.	391;391;391	C9JFH3;Q6PI73;D3YTC4	.;LIRA6_HUMAN;.	V	391	ENSP00000411227:A391V;ENSP00000379651:A391V;ENSP00000245621:A391V	ENSP00000245621:A391V	A	-	2	0	LILRA6	59436048	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-2.324000	0.01116	-2.421000	0.00563	0.195000	0.17529	GCG	LILRA6	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000244482		0.592	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	-	0	99	0	G	NM_024318		54744236	-1	tier1	-	no_errors	ENST00000419410	ensembl	human	known	74_37	missense	29.81	73	31	SNP	0.000	A	A	54744236	G	A	54744236	3	1	100	1	0	0	0	0	1	0	0	0	8818	1087	38	1	285	1	LILRA6	19	54744236	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	5038931	54744236	4384747	243	28551											
NLRP5	126206	genome.wustl.edu	37	chr19	56538599	56538599	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggagagcagtgtcacaGagttcatctccagggagtgg	12	7	15	7	0	3	3	2	0	1	3	4	5	3	4	1	3	1	2	1	3	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:56538599G>C	ENST00000390649.3	+	7	1000	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	334	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGTGTCACAGAGTTCATCTC	0.557																																																	0													38	39	39					19																	56538599		2061	4211	6272	SO:0001583	missense	0			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"Nucleotide-binding domain and leucine rich repeat containing"	21269	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"	609658	"NACHT, leucine rich repeat and PYD containing 5"	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1000G>C	19.37:g.56538599G>C	ENSP00000375063:p.Glu334Gln		A8MTY4|Q86W29	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E334Q	ENST00000390649.3	37	c.1000	CCDS12938.1	19	.	.	.	.	.	.	.	.	.	.	G	3.347	-0.133413	0.06711	.	.	ENSG00000171487	ENST00000390649	T	0.79653	-1.29	3.35	1.08	0.20341	NACHT nucleoside triphosphatase (1);	0.214319	0.23704	N	0.045392	T	0.66396	0.2785	L	0.33753	1.03	0.09310	N	1	P	0.38223	0.623	B	0.42882	0.401	T	0.55780	-0.8087	10	0.08381	T	0.77	.	4.5488	0.12098	0.129:0.229:0.642:0.0	.	334	P59047	NALP5_HUMAN	Q	334	ENSP00000375063:E334Q	ENSP00000375063:E334Q	E	+	1	0	NLRP5	61230411	0.971000	0.33674	0.002000	0.10522	0.002000	0.02628	2.314000	0.43743	0.375000	0.24679	0.655000	0.94253	GAG	NLRP5	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase	ENSG00000171487		0.557	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP5	HGNC	protein_coding	OTTHUMT00000313735.1	-	0	32	0	G	NM_153447		56538599	1	tier1	-	no_errors	ENST00000390649	ensembl	human	known	74_37	missense	44.44	15	12	SNP	0.003	C	C	56538599	G	C	56538599	3	2	100	1	0	0	0	0	1	0	0	0	10519	943	33	5	1026	5	NLRP5	19	56538599	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1794363	56538599	2590384	244	28552											
A1BG	1	genome.wustl.edu	37	chr19	58863717	58863717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccatcggtccggtagctgCagctgtagttgccaggctga	6	9	13	13	2	0	1	0	1	0	0	2	1	1	1	4	3	4	7	4	3	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr19:58863717C>A	ENST00000263100.3	-	4	606	c.545G>T	c.(544-546)tGc>tTc	p.C182F	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	182	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCGGTAGCTGCAGCTGTAGTT	0.632																																																	0													114	103	106					19																	58863717		2203	4300	6503	SO:0001583	missense	0				CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.545G>T	19.37:g.58863717C>A	ENSP00000263100:p.Cys182Phe		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.C182F	ENST00000263100.3	37	c.545	CCDS12976.1	19	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435710	0.43224	.	.	ENSG00000121410	ENST00000263100;ENST00000453054	T	0.29142	1.58	4.05	4.05	0.47172	Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000133	T	0.63558	0.2521	M	0.93594	3.435	0.48975	D	0.999736	D	0.89917	1.0	D	0.91635	0.999	T	0.73519	-0.3957	10	0.87932	D	0	.	12.4371	0.55604	0.0:1.0:0.0:0.0	.	182	P04217	A1BG_HUMAN	F	182;60	ENSP00000263100:C182F	ENSP00000263100:C182F	C	-	2	0	A1BG	63555529	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	1.461000	0.35255	2.203000	0.70933	0.563000	0.77884	TGC	A1BG	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000121410		0.632	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A1BG	HGNC	protein_coding	OTTHUMT00000466930.1		0	33	0	C	NM_130786		58863717	-1			no_errors	ENST00000263100	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	A	A	58863717	C	A	58863717	3	1	100	1	0	0	0	0	1	0	0	0	1	710	25	3	962	3	A1BG	19	58863717	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2325118	58863717	265266	245	28553											
CEP250	11190	genome.wustl.edu	37	chr20	34090592	34090592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattgctgtctctggacctGaagaagaggaaccaagaggt	13	8	13	7	0	1	4	0	1	1	3	2	7	1	6	2	3	2	1	2	3	5	1	rs377306728		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr20:34090592G>A	ENST00000397527.1	+	30	5115	c.4395G>A	c.(4393-4395)ctG>ctA	p.L1465L	CEP250_ENST00000342580.4_Silent_p.L1409L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1465	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTCTGGACCTGAAGAAGAGGA	0.512																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	64	65	65		4395	-2.1	1	20		65	0,8600		0,0,4300	no	coding-synonymous	CEP250	NM_007186.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1465/2443	34090592	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4395G>A	20.37:g.34090592G>A			E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.L1465	ENST00000397527.1	37	c.4395	CCDS13255.1	20																																																																																			CEP250	-	NULL	ENSG00000126001		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	25	0	G	NM_007186		34090592	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.984	A	A	34090592	G	A	34090592	2	1	100	1	0	0	0	0	0	0	0	1	3259	1277	45	3		3	CEP250	20	34090592	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09		34090592	28934928	246	28554											
CEP250	11190	genome.wustl.edu	37	chr20	34092542	34092542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagattctggagctgagggaGacccagcaaaggaacaacct	14	5	13	9	0	1	3	0	1	1	2	1	7	1	5	2	3	4	2	2	3	3	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr20:34092542G>C	ENST00000397527.1	+	30	7065	c.6345G>C	c.(6343-6345)gaG>gaC	p.E2115D	CEP250_ENST00000342580.4_Missense_Mutation_p.E2059D	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2115	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCTGAGGGAGACCCAGCAAA	0.507																																																	0													80	86	84					20																	34092542		2203	4300	6503	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"centrosomal protein 2"	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6345G>C	20.37:g.34092542G>C	ENSP00000380661:p.Glu2115Asp		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E2115D	ENST00000397527.1	37	c.6345	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905162	0.33628	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.50813	2.73;2.71;0.73	4.28	2.22	0.28083	.	0.202181	0.34676	N	0.003762	T	0.33059	0.0850	L	0.54323	1.7	0.19775	N	0.999958	P	0.39480	0.675	B	0.33454	0.164	T	0.17319	-1.0373	10	0.35671	T	0.21	.	4.2533	0.10705	0.2116:0.0:0.6111:0.1772	.	2115	Q9BV73	CP250_HUMAN	D	2115;2059;603	ENSP00000380661:E2115D;ENSP00000341541:E2059D;ENSP00000395992:E603D	ENSP00000341541:E2059D	E	+	3	2	CEP250	33555956	0.543000	0.26434	0.995000	0.50966	0.659000	0.38960	1.896000	0.39789	0.375000	0.24679	0.462000	0.41574	GAG	CEP250	-	NULL	ENSG00000126001		0.507	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0	16	0	G	NM_007186		34092542	1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.942	C	C	34092542	G	C	34092542	3	2	100	1	0	0	0	0	1	0	0	0	3259	933	33	5	6451	5	CEP250	20	34092542	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1950	34092542	28932978	247	28555											
ZNF335	63925	genome.wustl.edu	37	chr20	44579100	44579100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggcctcaccgctgcccGcagaggtggcatgcaaaagg	9	6	13	13	2	2	1	1	0	1	1	2	1	2	1	3	4	2	4	3	4	2	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr20:44579100G>A	ENST00000322927.2	-	21	3424	c.3324C>T	c.(3322-3324)tgC>tgT	p.C1108C	ZNF335_ENST00000426788.1_Silent_p.C953C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1108					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACCGCTGCCCGCAGAGGTGGC	0.567																																																	0													113	112	112					20																	44579100		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"Zinc fingers, C2H2-type"	15807	protein-coding gene	gene with protein product	"NRC-interacting factor 1"	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.3324C>T	20.37:g.44579100G>A			B4DLG7|Q548D0|Q9H684	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C1108	ENST00000322927.2	37	c.3324	CCDS13389.1	20																																																																																			ZNF335	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198026		0.567	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0	70	0	G	NM_022095		44579100	-1	tier1	-	no_errors	ENST00000322927	ensembl	human	known	74_37	silent	5.80	64	4	SNP	0.997	A	A	44579100	G	A	44579100	2	1	100	1	0	0	0	0	0	0	0	1	17900	1079	38	1		1	ZNF335	20	44579100	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	10486558	44579100	18446420	248	28556											
ARFGEF2	10564	genome.wustl.edu	37	chr20	47589702	47589702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcccagtgtgttgtggatAtttatgtcaactacgactgt	9	15	10	7	1	1	0	1	0	0	0	1	2	1	1	1	1	3	1	1	1	4	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr20:47589702A>G	ENST00000371917.4	+	12	1546	c.1546A>G	c.(1546-1548)Att>Gtt	p.I516V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	516	HUS; DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGTTGTGGATATTTATGTCAA	0.358																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													113	106	108					20																	47589702		2203	4300	6503	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1546A>G	20.37:g.47589702A>G	ENSP00000360985:p.Ile516Val		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.I516V	ENST00000371917.4	37	c.1546	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	24.5	4.539143	0.85917	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.53857	0.6	5.5	5.5	0.81552	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.80508	2.5	0.80722	D	1	D	0.60575	0.988	D	0.65323	0.934	T	0.77161	-0.2689	10	0.72032	D	0.01	.	15.6362	0.76953	1.0:0.0:0.0:0.0	.	516	Q9Y6D5	BIG2_HUMAN	V	516	ENSP00000360985:I516V	ENSP00000360985:I516V	I	+	1	0	ARFGEF2	47023109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.090000	0.63153	0.460000	0.39030	ATT	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.358	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	-	0	58	0	A	NM_006420		47589702	1	tier1	-	no_errors	ENST00000371917	ensembl	human	known	74_37	missense	38.24	42	26	SNP	1.000	G	G	47589702	A	G	47589702	3	3	100	1	0	0	0	0	1	0	0	0	853	449	16	4	1592	4	ARFGEF2	20	47589702	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	3010602	47589702	15435818	249	28557											
NFATC2	4773	genome.wustl.edu	37	chr20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagtagtggatcacaggcGaggcctgctggttggtcgga	7	9	18	7	2	1	1	1	1	0	0	2	4	1	3	1	6	1	3	1	6	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr20:50048903G>A	ENST00000396009.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000610033.1_Missense_Mutation_p.S589L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S589L|NFATC2_ENST00000371564.3_Missense_Mutation_p.S808L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S788L	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	808					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S808L(2)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GATCACAGGCGAGGCCTGCTG	0.647																																																	2	Substitution - Missense(2)	lung(2)											47	50	49					20																	50048903		2203	4300	6503	SO:0001583	missense	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2423C>T	20.37:g.50048903G>A	ENSP00000379330:p.Ser808Leu		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.S808L	ENST00000396009.3	37	c.2423	CCDS13437.1	20	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780159	0.49891	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18960	2.19;2.18;2.21	5.45	5.45	0.79879	.	0.135690	0.50627	D	0.000108	T	0.15003	0.0362	L	0.36672	1.1	0.48901	D	0.999727	P;P;D;P	0.54601	0.931;0.913;0.967;0.931	B;B;B;B	0.34489	0.081;0.17;0.173;0.184	T	0.12400	-1.0549	10	0.11794	T	0.64	-4.4372	19.296	0.94122	0.0:0.0:1.0:0.0	.	788;788;808;808	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	808;808;788	ENSP00000360619:S808L;ENSP00000379330:S808L;ENSP00000396471:S788L	ENSP00000360619:S808L	S	-	2	0	NFATC2	49482310	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	9.452000	0.97615	2.563000	0.86464	0.650000	0.86243	TCG	NFATC2	-	NULL	ENSG00000101096		0.647	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2	-	0	53	0	G	NM_012340		50048903	-1	tier1	-	no_errors	ENST00000396009	ensembl	human	known	74_37	missense	33.00	67	33	SNP	0.998	A	A	50048903	G	A	50048903	3	1	100	1	0	0	0	0	1	0	0	0	10401	1059	37	1	410	1	NFATC2	20	50048903	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2459201	50048903	12976617	250	28558											
PHACTR3	116154	genome.wustl.edu	37	chr20	58342365	58342365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcctcccagacctctggaGagatccgtgggccagctccc	7	7	11	16	1	1	2	0	0	1	2	5	4	5	3	6	2	1	1	6	2	0	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr20:58342365G>A	ENST00000371015.1	+	5	1133	c.666G>A	c.(664-666)gaG>gaA	p.E222E	PHACTR3_ENST00000395636.2_Silent_p.E181E|PHACTR3_ENST00000355648.4_Silent_p.E181E|PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000359926.3_Silent_p.E219E|PHACTR3_ENST00000361300.4_Intron|PHACTR3_ENST00000541461.1_Silent_p.E181E	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	222	Pro-rich.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GACCTCTGGAGAGATCCGTGG	0.617																																																	0													37	36	36					20																	58342365		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"Phosphatase and actin regulators"	15833	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 123"	608725	"chromosome 20 open reading frame 101"	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.666G>A	20.37:g.58342365G>A			B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.E222	ENST00000371015.1	37	c.666	CCDS13480.1	20																																																																																			PHACTR3	-	NULL	ENSG00000087495		0.617	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0	30	0	G	NM_080672		58342365	1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	silent	29.03	22	9	SNP	1.000	A	A	58342365	G	A	58342365	2	1	100	1	0	0	0	0	0	0	0	1	11850	933	33	3		3	PHACTR3	20	58342365	Silent	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	8293462	58342365	4683155	251	28559											
OGFR	11054	genome.wustl.edu	37	chr20	61444660	61444660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggagaccccaggccccCgcccggcaggacctgcaggg	7	2	14	18	3	0	1	0	0	0	1	1	3	0	2	6	5	1	2	6	5	0	0	rs61743079		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr20:61444660C>A	ENST00000290291.6	+	7	1718	c.1693C>A	c.(1693-1695)Cgc>Agc	p.R565S	OGFR_ENST00000370461.1_Missense_Mutation_p.R513S	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	565	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CCCAGGCCCCCGCCCGGCAGG	0.741																																																	0													3	6	5					20																	61444660		1281	3014	4295	SO:0001583	missense	0			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1693C>A	20.37:g.61444660C>A	ENSP00000290291:p.Arg565Ser		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.R565S	ENST00000290291.6	37	c.1693	CCDS13504.1	20	.	.	.	.	.	.	.	.	.	.	A	0.130	-1.114132	0.01799	.	.	ENSG00000060491	ENST00000290291;ENST00000357163;ENST00000370469;ENST00000370461	T;T	0.54866	0.55;0.55	1.46	-2.91	0.05631	.	.	.	.	.	T	0.23649	0.0572	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19031	-1.0318	9	0.11182	T	0.66	.	0.4172	0.00450	0.232:0.1649:0.1659:0.4372	rs61743079	565;548;565	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	S	565;545;400;513	ENSP00000290291:R565S;ENSP00000359491:R513S	ENSP00000290291:R565S	R	+	1	0	OGFR	60915105	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.466000	0.06672	-1.870000	0.01139	-1.293000	0.01348	CGC	OGFR	-	pfam_OGF_rcpt_rpt	ENSG00000060491		0.741	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	HGNC	protein_coding	OTTHUMT00000080067.1		0	19	0	C			61444660	1			no_errors	ENST00000290291	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.000	A	A	61444660	C	A	61444660	3	1	100	1	0	0	0	0	1	0	0	0	10882	652	23	2	1719	2	OGFR	20	61444660	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	3102295	61444660	1580860	252	28560											
SYNJ1	8867	genome.wustl.edu	37	chr21	34011322	34011322	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggggccagactgaggcaTaggtgctgccacagggacaa	10	5	16	10	0	0	2	0	1	0	1	0	3	0	3	2	5	2	2	2	5	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr21:34011322T>A	ENST00000322229.7	-	30	3810	c.3811A>T	c.(3811-3813)Atg>Ttg	p.M1271L	SYNJ1_ENST00000357345.3_Missense_Mutation_p.M1255L|SYNJ1_ENST00000382491.3_Missense_Mutation_p.M1224L|SYNJ1_ENST00000382499.2_Missense_Mutation_p.M1310L|SYNJ1_ENST00000433931.2_Missense_Mutation_p.M1310L			O43426	SYNJ1_HUMAN	synaptojanin 1	1271	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GACTGAGGCATAGGTGCTGCC	0.567																																																	0													149	159	156					21																	34011322		2203	4300	6503	SO:0001583	missense	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3811A>T	21.37:g.34011322T>A	ENSP00000322234:p.Met1271Leu		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.M1310L	ENST00000322229.7	37	c.3928	CCDS54484.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.887|9.887	1.203213|1.203213	0.22121|0.22121	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229|ENST00000438952	D;D;D;D;D|.	0.92805|.	-2.26;-3.11;-3.09;-2.26;-2.25|.	5.13|5.13	-10.3|-10.3	0.00346|0.00346	.|.	1.165590|.	0.05998|.	N|.	0.647150|.	T|T	0.21468|0.21468	0.0517|0.0517	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.12066|0.12066	-1.0562|-1.0562	10|5	0.27082|.	T|.	0.32|.	.|.	6.8826|6.8826	0.24181|0.24181	0.1969:0.1722:0.5361:0.0948|0.1969:0.1722:0.5361:0.0948	.|.	1224;1310;1271;1271;1255|.	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4|.	.;.;.;SYNJ1_HUMAN;.|.	L|F	1224;1255;1310;1310;1271|146	ENSP00000371931:M1224L;ENSP00000349903:M1255L;ENSP00000371939:M1310L;ENSP00000409667:M1310L;ENSP00000322234:M1271L|.	ENSP00000322234:M1271L|.	M|Y	-|-	1|2	0|0	SYNJ1|SYNJ1	32933193|32933193	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.735000|0.735000	0.41995|0.41995	-1.363000|-1.363000	0.02592|0.02592	-3.263000|-3.263000	0.00201|0.00201	0.533000|0.533000	0.62120|0.62120	ATG|TAT	SYNJ1	-	NULL	ENSG00000159082		0.567	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0	82	0	T			34011322	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	missense	26.72	85	31	SNP	0.000	A	A	34011322	T	A	34011322	3	1	100	1	0	0	0	0	1	0	0	0	15499	1406	49	5	943	5	SYNJ1	21	34011322	Missense_Mutation	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09		34011322	14118573	253	28561											
GART	2618	genome.wustl.edu	37	chr21	34903861	34903861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagctgccccaaaggctttCtcctgattgtaagatttttt	8	15	7	11	0	1	2	0	1	1	1	2	2	1	2	4	1	2	3	4	1	2	6	rs142038738		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr21:34903861C>G	ENST00000381831.3	-	6	794	c.531G>C	c.(529-531)gaG>gaC	p.E177D	GART_ENST00000381839.3_Missense_Mutation_p.E177D|GART_ENST00000381815.4_Missense_Mutation_p.E177D|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Missense_Mutation_p.E177D	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	177	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAAAGGCTTTCTCCTGATTGT	0.328																																																	0													100	101	101					21																	34903861		2203	4300	6503	SO:0001583	missense	0			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.531G>C	21.37:g.34903861C>G	ENSP00000371253:p.Glu177Asp		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.E177D	ENST00000381831.3	37	c.531	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	C	5.106	0.205160	0.09704	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.44482	1.53;1.53;1.53;1.54;0.94;0.92	6.07	-3.18	0.05186	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.172604	0.64402	N	0.000009	T	0.09818	0.0241	N	0.01003	-1.06	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09618	-1.0666	10	0.33141	T	0.24	-6.3852	0.8613	0.01194	0.4025:0.2436:0.1422:0.2117	.	177	P22102	PUR2_HUMAN	D	177	ENSP00000371236:E177D;ENSP00000371253:E177D;ENSP00000371261:E177D;ENSP00000354388:E177D;ENSP00000413040:E177D;ENSP00000398631:E177D	ENSP00000354388:E177D	E	-	3	2	GART	33825731	0.902000	0.30710	0.936000	0.37596	0.897000	0.52465	0.030000	0.13688	-0.809000	0.04381	0.650000	0.86243	GAG	GART	-	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth	ENSG00000159131		0.328	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	HGNC	protein_coding	OTTHUMT00000140626.3	-	0	8	0	C	NM_000819		34903861	-1	tier1	-	no_errors	ENST00000381815	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.979	G	G	34903861	C	G	34903861	3	3	100	1	0	0	0	0	1	0	0	0	6268	912	32	5	2573	5	GART	21	34903861	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	892539	34903861	13226034	254	28562											
DSCR3	10311	genome.wustl.edu	37	chr21	38610793	38610793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaacacgccatgatacgtctCatacagaactttgttaccct	13	11	5	12	2	1	2	1	1	1	1	2	2	1	2	2	0	5	1	2	0	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr21:38610793C>G	ENST00000309117.6	-	3	556	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000288304.5_Missense_Mutation_p.E65Q|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000476950.1_Missense_Mutation_p.E107Q|DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000398998.1_Missense_Mutation_p.E59Q	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	107						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						TGATACGTCTCATACAGAACT	0.453																																																	0													165	151	156					21																	38610793		2203	4300	6503	SO:0001583	missense	0			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.319G>C	21.37:g.38610793C>G	ENSP00000311399:p.Glu107Gln		B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Missense_Mutation	SNP	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	p.E107Q	ENST00000309117.6	37	c.319	CCDS33553.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.219936	0.95139	.	.	ENSG00000157538	ENST00000309117;ENST00000288304;ENST00000476950;ENST00000398998	T	0.06371	3.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.32704	0.0838	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.83275	0.996;0.989	T	0.12863	-1.0531	10	0.87932	D	0	-8.5269	19.5612	0.95373	0.0:1.0:0.0:0.0	.	107;107	B7Z6B1;O14972	.;DSCR3_HUMAN	Q	107;65;107;59	ENSP00000311399:E107Q	ENSP00000288304:E65Q	E	-	1	0	DSCR3	37532663	1.000000	0.71417	0.995000	0.50966	0.901000	0.52897	7.458000	0.80787	2.687000	0.91594	0.655000	0.94253	GAG	DSCR3	-	pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000157538		0.453	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR3	HGNC	protein_coding	OTTHUMT00000194807.1	-	0	25	0	C			38610793	-1	tier1	-	no_errors	ENST00000309117	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	G	G	38610793	C	G	38610793	3	3	100	1	0	0	0	0	1	0	0	0	4785	835	29	5	598	5	DSCR3	21	38610793	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	3706932	38610793	9519102	255	28563											
CCT8L2	150160	genome.wustl.edu	37	chr22	17072518	17072518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacgatgccatacttgTccgccagtgtgagggtctcc	7	10	10	14	2	2	1	1	1	1	0	4	2	3	1	5	1	2	0	5	1	1	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:17072518T>C	ENST00000359963.3	-	1	1182	c.923A>G	c.(922-924)gAc>gGc	p.D308G		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	308					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCATACTTGTCCGCCAGTGT	0.532																																																	0													190	166	174					22																	17072518		2203	4300	6503	SO:0001583	missense	0			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.923A>G	22.37:g.17072518T>C	ENSP00000353048:p.Asp308Gly		A4QPH3|Q9UJS3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.D308G	ENST00000359963.3	37	c.923	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	t	10.29	1.310492	0.23821	.	.	ENSG00000198445	ENST00000359963	T	0.78481	-1.18	1.98	1.98	0.26296	.	0.178508	0.26457	U	0.024274	T	0.63581	0.2523	L	0.44542	1.39	0.09310	N	1	B	0.24186	0.099	B	0.25759	0.063	T	0.42599	-0.9442	10	0.15066	T	0.55	-16.9039	5.9203	0.19078	0.0:0.0:0.0:1.0	.	308	Q96SF2	TCPQM_HUMAN	G	308	ENSP00000353048:D308G	ENSP00000353048:D308G	D	-	2	0	CCT8L2	15452518	0.139000	0.22563	0.002000	0.10522	0.006000	0.05464	3.036000	0.49767	0.922000	0.37019	0.312000	0.20444	GAC	CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000198445		0.532	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	-	0	60	0	T			17072518	-1	tier1	-	no_errors	ENST00000359963	ensembl	human	known	74_37	missense	24.00	57	18	SNP	0.005	C	C	17072518	T	C	17072518	3	2	100	1	0	0	0	0	1	0	0	0	2968	1667	58	4	754	4	CCT8L2	22	17072518	Missense_Mutation	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09		17072518	34232048	256	28564											
TOP3B	8940	genome.wustl.edu	37	chr22	22322028	22322028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacatctgtgcgatctcccGgtcaaacactcttactcggt	10	11	7	13	3	4	0	1	0	3	0	6	1	4	0	1	2	4	0	1	2	3	1	rs146485968		TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:22322028G>A	ENST00000398793.2	-	8	1233	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TOP3B_ENST00000357179.5_Missense_Mutation_p.R267W|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	267					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCGATCTCCCGGTCAAACACT	0.483																																																	0								G	TRP/ARG	0,4406		0,0,2203	161	138	146		799	1.2	1	22	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TOP3B	NM_003935.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	267/863	22322028	1,13005	2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.799C>T	22.37:g.22322028G>A	ENSP00000381773:p.Arg267Trp		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.R267W	ENST00000398793.2	37	c.799	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414726	0.62511	0.0	1.16E-4	ENSG00000100038	ENST00000357179;ENST00000398793	T;T	0.23754	1.89;1.89	4.71	1.16	0.20824	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);	0.054141	0.64402	N	0.000001	T	0.47340	0.1440	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.45071	-0.9286	10	0.59425	D	0.04	.	7.6323	0.28247	0.0751:0.0:0.5117:0.4132	.	267	O95985	TOP3B_HUMAN	W	267	ENSP00000349705:R267W;ENSP00000381773:R267W	ENSP00000349705:R267W	R	-	1	2	TOP3B	20652028	1.000000	0.71417	0.999000	0.59377	0.768000	0.43524	1.129000	0.31381	0.144000	0.18951	0.655000	0.94253	CGG	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain	ENSG00000100038		0.483	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1		0	45	0	G	NM_003935		22322028	-1			no_errors	ENST00000357179	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	A	A	22322028	G	A	22322028	3	1	100	1	0	0	0	0	1	0	0	0	16416	1115	39	1	1833	1	TOP3B	22	22322028	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	5249510	22322028	28982538	257	28565											
IGLL1	3543	genome.wustl.edu	37	chr22	23917210	23917210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgtcactgagttatgcttgGattgaaacccccggggccag	8	9	13	11	2	1	2	1	2	0	0	1	3	1	3	3	3	2	2	3	3	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:23917210G>C	ENST00000330377.2	-	2	383	c.266C>G	c.(265-267)tCc>tGc	p.S89C	AP000345.2_ENST00000454863.1_RNA|AP000345.2_ENST00000458318.1_RNA|IGLL1_ENST00000249053.3_Intron	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	89					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						GTTATGCTTGGATTGAAACCC	0.612																																																	0													67	62	64					22																	23917210		2203	4300	6503	SO:0001583	missense	0			X52204	CCDS13809.1, CCDS13810.1	22q11.23	2014-09-17			ENSG00000128322	ENSG00000128322		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	5870	protein-coding gene	gene with protein product		146770		IGLL		3139558, 2511029	Standard	NM_020070		Approved	IGVPB, IGL5, 14.1, CD179B	uc002zxd.3	P15814	OTTHUMG00000150673	ENST00000330377.2:c.266C>G	22.37:g.23917210G>C	ENSP00000329312:p.Ser89Cys		Q0P681	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S89C	ENST00000330377.2	37	c.266	CCDS13809.1	22	.	.	.	.	.	.	.	.	.	.	-	7.094	0.572755	0.13623	.	.	ENSG00000128322	ENST00000330377;ENST00000438703	T;T	0.01099	6.59;5.34	1.58	1.58	0.23477	.	.	.	.	.	T	0.01454	0.0047	L	0.48642	1.525	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.40794	-0.9544	9	0.56958	D	0.05	.	7.441	0.27183	0.0:0.0:1.0:0.0	.	89	P15814	IGLL1_HUMAN	C	89;90	ENSP00000329312:S89C;ENSP00000403391:S90C	ENSP00000329312:S89C	S	-	2	0	IGLL1	22247210	0.001000	0.12720	0.050000	0.19076	0.000000	0.00434	0.745000	0.26259	0.929000	0.37192	0.000000	0.15137	TCC	IGLL1	-	NULL	ENSG00000128322		0.612	IGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGLL1	HGNC	protein_coding	OTTHUMT00000319569.1	-	0	66	0	G	NM_020070		23917210	-1	tier1	-	no_errors	ENST00000330377	ensembl	human	known	74_37	missense	28.07	40	16	SNP	0.004	C	C	23917210	G	C	23917210	3	2	100	1	0	0	0	0	1	0	0	0	7620	1174	41	5	383	5	IGLL1	22	23917210	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	1595182	23917210	27387356	258	28566											
EWSR1	2130	genome.wustl.edu	37	chr22	29678390	29678390	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctcttagaccgcaggatgGaaacaagcccactgagacta	13	7	9	12	1	1	2	0	1	1	2	2	5	2	4	3	2	2	1	3	2	4	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:29678390G>C	ENST00000397938.2	+	6	744	c.425G>C	c.(424-426)gGa>gCa	p.G142A	EWSR1_ENST00000332050.6_Missense_Mutation_p.G142A|EWSR1_ENST00000406548.1_Missense_Mutation_p.G142A|EWSR1_ENST00000331029.7_Missense_Mutation_p.G142A|EWSR1_ENST00000332035.6_Intron|EWSR1_ENST00000414183.2_Missense_Mutation_p.G148A|EWSR1_ENST00000333395.6_Missense_Mutation_p.G142A	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	142	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCGCAGGATGGAAACAAGCCC	0.423			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	0													40	33	36					22																	29678390		2203	4300	6503	SO:0001583	missense	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.425G>C	22.37:g.29678390G>C	ENSP00000381031:p.Gly142Ala		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G148A	ENST00000397938.2	37	c.443	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595874	0.46318	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395	D;D;D;D;D	0.98345	-4.24;-3.64;-3.63;-4.88;-3.88	4.99	4.99	0.66335	.	0.204722	0.31134	U	0.008190	D	0.98611	0.9535	M	0.69358	2.11	0.49798	D	0.999829	D;D;D;D	0.76494	0.996;0.999;0.996;0.998	D;D;D;D	0.83275	0.91;0.996;0.91;0.959	D	0.98660	1.0683	10	0.27082	T	0.32	.	18.2114	0.89871	0.0:0.0:1.0:0.0	.	142;148;142;142	Q96FE8;Q96MX4;Q01844;Q9BWA2	.;.;EWS_HUMAN;.	A	142;142;149;148;142;143;67;142;148;142	ENSP00000330896:G142A;ENSP00000381031:G142A;ENSP00000385726:G142A;ENSP00000330516:G142A;ENSP00000400142:G148A	ENSP00000330516:G142A	G	+	2	0	EWSR1	28008390	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.178000	0.65037	2.454000	0.82982	0.557000	0.71058	GGA	EWSR1	-	NULL	ENSG00000182944		0.423	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	HGNC	protein_coding	OTTHUMT00000321345.1	-	0	56	0	G	NM_005243		29678390	1	tier1	-	no_errors	ENST00000414183	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	C	C	29678390	G	C	29678390	3	2	100	1	0	0	0	0	1	0	0	0	5312	1174	41	5	469	5	EWSR1	22	29678390	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	5761180	29678390	21626176	259	28567											
RNF185	91445	genome.wustl.edu	37	chr22	31592935	31592935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtttcagagagaagacccctCctcgtcctcaaggacagagg	11	7	11	12	1	2	4	2	0	0	4	5	6	4	5	4	2	0	1	4	2	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:31592935C>G	ENST00000326132.6	+	5	481	c.322C>G	c.(322-324)Cct>Gct	p.P108A	RNF185_ENST00000426256.2_Missense_Mutation_p.P46A|RNF185_ENST00000266252.7_Intron	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	108					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						GAAGACCCCTCCTCGTCCTCA	0.463																																																	0													56	60	59					22																	31592935		2203	4300	6503	SO:0001583	missense	0				CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"RING-type (C3HC4) zinc fingers"	26783	protein-coding gene	gene with protein product	"hypothetical protein FLJ38628"					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.322C>G	22.37:g.31592935C>G	ENSP00000320508:p.Pro108Ala		A8K5C1|A9X3T8|Q8N900	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P108A	ENST00000326132.6	37	c.322	CCDS13890.1	22	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741149	0.89573	.	.	ENSG00000138942	ENST00000426256;ENST00000326132;ENST00000436825	D	0.95447	-3.71	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	M	0.83852	2.665	0.80722	D	1	D;D	0.76494	0.999;0.98	D;D	0.80764	0.994;0.956	D	0.98025	1.0373	10	0.59425	D	0.04	.	18.8912	0.92406	0.0:1.0:0.0:0.0	.	46;108	B4DMD6;Q96GF1	.;RN185_HUMAN	A	46;108;108	ENSP00000320508:P108A	ENSP00000320508:P108A	P	+	1	0	RNF185	29922935	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	7.445000	0.80570	2.716000	0.92895	0.555000	0.69702	CCT	RNF185	-	NULL	ENSG00000138942		0.463	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF185	HGNC	protein_coding	OTTHUMT00000321927.2	-	0	50	0	C	NM_152267		31592935	1	tier1	-	no_errors	ENST00000326132	ensembl	human	known	74_37	missense	31.58	39	18	SNP	1.000	G	G	31592935	C	G	31592935	3	3	100	1	0	0	0	0	1	0	0	0	13513	855	30	5	336	5	RNF185	22	31592935	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	1914545	31592935	19711631	260	28568											
EIF4ENIF1	56478	genome.wustl.edu	37	chr22	31835930	31835930	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggagggcaggggttgcTgtagcacatctgagccaaac	10	7	15	9	0	1	1	0	1	1	0	1	2	1	2	1	4	4	6	1	4	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:31835930T>A	ENST00000397525.1	-	19	3117	c.2894A>T	c.(2893-2895)cAg>cTg	p.Q965L	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.Q791L|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.Q620L|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.Q965L|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.Q941L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	965						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGGGGTTGCTGTAGCACATC	0.592																																																	0													102	84	90					22																	31835930		2203	4300	6503	SO:0001583	missense	0			AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2894A>T	22.37:g.31835930T>A	ENSP00000380659:p.Gln965Leu		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	pfam_eIF4E_transporter	p.Q965L	ENST00000397525.1	37	c.2894	CCDS13898.1	22	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988761	0.74589	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.16	6.16	0.99307	.	0.099229	0.64402	D	0.000001	T	0.65698	0.2716	L	0.29908	0.895	0.80722	D	1	D;P;D;D	0.59357	0.985;0.956;0.985;0.985	D;B;P;P	0.66196	0.942;0.444;0.79;0.541	T	0.68254	-0.5457	9	0.66056	D	0.02	-12.3651	15.9872	0.80168	0.0:0.0:0.0:1.0	.	791;965;790;941	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	L	791;965;965;941;620	.	ENSP00000328103:Q965L	Q	-	2	0	EIF4ENIF1	30165930	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.078000	0.76821	2.367000	0.80283	0.528000	0.53228	CAG	EIF4ENIF1	-	NULL	ENSG00000184708		0.592	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4ENIF1	HGNC	protein_coding	OTTHUMT00000127926.1	-	0	36	0	T	NM_019843		31835930	-1	tier1	-	no_errors	ENST00000330125	ensembl	human	known	74_37	missense	37.04	34	20	SNP	1.000	A	A	31835930	T	A	31835930	3	1	100	1	0	0	0	0	1	0	0	0	5051	1580	55	5	67	5	EIF4ENIF1	22	31835930	Missense_Mutation	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09	242995	31835930	19468636	261	28569											
HMGXB4	10042	genome.wustl.edu	37	chr22	35684359	35684359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatcttcagctgttgggaGagtccctaagcctcattgga	8	12	10	11	0	4	1	3	0	1	1	5	3	5	2	2	2	2	2	2	2	1	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:35684359G>A	ENST00000216106.5	+	9	1725	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E424K	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	533					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTTGGGAGAGTCCCTAAG	0.493																																																	0													131	106	114					22																	35684359		2203	4300	6503	SO:0001583	missense	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"High mobility group / Non-canonical"	5003	protein-coding gene	gene with protein product		604702	"high-mobility group protein 2-like 1"	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1597G>A	22.37:g.35684359G>A	ENSP00000216106:p.Glu533Lys		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E533K	ENST00000216106.5	37	c.1597	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.463534	0.96257	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.35048	1.33;1.38	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.61986	0.2391	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.67015	-0.5777	10	0.87932	D	0	-24.4388	18.4568	0.90724	0.0:0.0:1.0:0.0	.	533	Q9UGU5	HMGX4_HUMAN	K	424;533	ENSP00000398302:E424K;ENSP00000216106:E533K	ENSP00000216106:E533K	E	+	1	0	HMGXB4	34014359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.567000	0.98161	2.351000	0.79841	0.563000	0.77884	GAG	HMGXB4	-	NULL	ENSG00000100281		0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	-	0	13	0	G	NM_005487		35684359	1	tier1	-	no_errors	ENST00000216106	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A	A	35684359	G	A	35684359	3	1	100	1	0	0	0	0	1	0	0	0	7266	943	33	3	1627	3	HMGXB4	22	35684359	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	3848429	35684359	15620207	262	28570											
TRIOBP	11078	genome.wustl.edu	37	chr22	38109392	38109392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgactccgccacccctGatgataccagcaactcgtcc	8	7	7	19	2	0	3	0	3	0	0	3	3	2	3	7	0	3	1	7	0	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:38109392G>C	ENST00000406386.3	+	5	685	c.430G>C	c.(430-432)Gat>Cat	p.D144H		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	144					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCCACCCCTGATGATACCAG	0.622																																																	0													77	92	87					22																	38109392		2152	4271	6423	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"Pleckstrin homology (PH) domain containing"	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.430G>C	22.37:g.38109392G>C	ENSP00000384312:p.Asp144His		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D144H	ENST00000406386.3	37	c.430	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370921	0.61624	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26957	1.7	4.69	3.65	0.41850	.	.	.	.	.	T	0.16041	0.0386	N	0.14661	0.345	0.80722	D	1	B	0.24882	0.113	B	0.25506	0.061	T	0.06373	-1.0830	9	0.72032	D	0.01	.	10.3902	0.44164	0.0:0.2083:0.7917:0.0	.	144	Q9H2D6	TARA_HUMAN	H	144	ENSP00000384312:D144H	ENSP00000384312:D144H	D	+	1	0	TRIOBP	36439338	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	1.823000	0.39062	1.155000	0.42497	0.650000	0.86243	GAT	TRIOBP	-	NULL	ENSG00000100106		0.622	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2		0	22	0	G			38109392	1			no_errors	ENST00000406386	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	C	C	38109392	G	C	38109392	3	2	100	1	0	0	0	0	1	0	0	0	16601	1290	45	5	440	5	TRIOBP	22	38109392	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	2425033	38109392	13195174	263	28571											
GRAP2	9402	genome.wustl.edu	37	chr22	40365485	40365485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgggcagtgaaatgaatgCggccctcatgcatcggagac	10	8	13	10	2	1	3	1	2	0	1	2	4	1	3	1	3	2	2	1	3	2	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:40365485C>A	ENST00000344138.4	+	7	1024	c.761C>A	c.(760-762)gCg>gAg	p.A254E	GRAP2_ENST00000544756.1_Missense_Mutation_p.A182E|GRAP2_ENST00000399090.2_Missense_Mutation_p.A141E|GRAP2_ENST00000540310.1_Missense_Mutation_p.A188E|GRAP2_ENST00000543252.1_Missense_Mutation_p.A214E|GRAP2_ENST00000407075.3_Missense_Mutation_p.A254E	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	254					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GAAATGAATGCGGCCCTCATG	0.572																																																	0													122	101	108					22																	40365485		2203	4300	6503	SO:0001583	missense	0			AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"SH2 domain containing"	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.761C>A	22.37:g.40365485C>A	ENSP00000339186:p.Ala254Glu		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.A254E	ENST00000344138.4	37	c.761	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568007	0.28003	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.74842	-0.36;-0.88;1.48;0.91;0.66;-0.36	5.69	5.69	0.88448	.	0.603639	0.17228	N	0.182044	T	0.73179	0.3554	L	0.29908	0.895	0.09310	N	0.999994	D;B;P;D;B	0.55800	0.965;0.36;0.925;0.973;0.36	P;B;B;P;B	0.51355	0.629;0.096;0.446;0.667;0.096	T	0.65249	-0.6214	10	0.26408	T	0.33	-9.9602	17.985	0.89153	0.0:1.0:0.0:0.0	.	141;254;188;228;254	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	E	254;214;228;188;182;141;254	ENSP00000339186:A254E;ENSP00000446350:A214E;ENSP00000444734:A188E;ENSP00000442195:A182E;ENSP00000382040:A141E;ENSP00000385607:A254E	ENSP00000339186:A254E	A	+	2	0	GRAP2	38695431	0.150000	0.22732	0.023000	0.16930	0.037000	0.13140	4.664000	0.61540	2.676000	0.91093	0.655000	0.94253	GCG	GRAP2	-	NULL	ENSG00000100351		0.572	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	HGNC	protein_coding	OTTHUMT00000321295.1		0	29	0	C	NM_004810		40365485	1			no_errors	ENST00000344138	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.070	A	A	40365485	C	A	40365485	3	1	100	1	0	0	0	0	1	0	0	0	6781	768	27	2	783	2	GRAP2	22	40365485	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	2256093	40365485	10939081	264	28572											
PNPLA3	80339	genome.wustl.edu	37	chr22	44330533	44330533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttggatgcattcaggttCttggaagagaagggtatgta	11	14	13	3	0	2	1	1	0	1	1	2	4	2	3	0	4	1	4	0	4	5	7			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:44330533C>T	ENST00000216180.3	+	5	917	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PNPLA3_ENST00000423180.2_Silent_p.F244F	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	248					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CATTCAGGTTCTTGGAAGAGA	0.483																																																	0													242	210	221					22																	44330533		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"Patatin-like phospholipase domain containing"	18590	protein-coding gene	gene with protein product		609567	"chromosome 22 open reading frame 20", "adiponutrin"	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.744C>T	22.37:g.44330533C>T			B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.F248	ENST00000216180.3	37	c.744	CCDS14054.1	22																																																																																			PNPLA3	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000100344		0.483	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PNPLA3	HGNC	protein_coding	OTTHUMT00000318891.1	-	0	90	0	C	NM_025225		44330533	1	tier1	-	no_errors	ENST00000216180	ensembl	human	known	74_37	silent	29.63	57	24	SNP	1.000	T	T	44330533	C	T	44330533	2	4	100	1	0	0	0	0	0	0	0	1	12205	912	32	3		3	PNPLA3	22	44330533	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	3965048	44330533	6974033	265	28573											
GRAMD4	23151	genome.wustl.edu	37	chr22	47054198	47054198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggtgcaggaggtgctgaAggccaggtaccgcgccttcc	8	6	16	11	2	0	1	0	1	0	0	1	3	1	2	4	5	3	3	4	5	3	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chr22:47054198A>G	ENST00000406902.1	+	4	611	c.398A>G	c.(397-399)aAg>aGg	p.K133R	GRAMD4_ENST00000361034.3_Missense_Mutation_p.K133R			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	133					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GAGGTGCTGAAGGCCAGGTAC	0.697																																																	0													43	42	42					22																	47054198		2199	4298	6497	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"death-inducing-protein"	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.398A>G	22.37:g.47054198A>G	ENSP00000385689:p.Lys133Arg		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.K133R	ENST00000406902.1	37	c.398	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	a	13.22	2.171252	0.38315	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.46451	0.87;0.87	4.58	2.35	0.29111	.	0.167176	0.35838	N	0.002954	T	0.26629	0.0651	L	0.31926	0.97	0.41410	D	0.987736	B	0.06786	0.001	B	0.09377	0.004	T	0.06023	-1.0850	10	0.25751	T	0.34	-26.8948	6.4206	0.21742	0.7694:0.0:0.2306:0.0	.	133	Q6IC98	GRAM4_HUMAN	R	133	ENSP00000385689:K133R;ENSP00000354313:K133R	ENSP00000354313:K133R	K	+	2	0	GRAMD4	45432862	0.978000	0.34361	1.000000	0.80357	0.985000	0.73830	0.669000	0.25142	0.709000	0.31976	0.451000	0.29950	AAG	GRAMD4	-	NULL	ENSG00000075240		0.697	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1		0	25	0	A	NM_015124		47054198	1			no_errors	ENST00000361034	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.997	G	G	47054198	A	G	47054198	3	3	100	1	0	0	0	0	1	0	0	0	6779	72	3	4	408	4	GRAMD4	22	47054198	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	2723665	47054198	4250368	266	28574											
GLRA2	2742	genome.wustl.edu	37	chrX	14627271	14627271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcgcactgggcatcAccacagtcttaacgatgacc	10	7	10	14	2	2	1	1	1	1	0	3	2	2	1	3	2	1	2	3	2	1	1			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:14627271A>T	ENST00000218075.4	+	7	1404	c.874A>T	c.(874-876)Acc>Tcc	p.T292S	GLRA2_ENST00000443437.2_Missense_Mutation_p.T203S|GLRA2_ENST00000355020.4_Missense_Mutation_p.T292S	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	292					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	ACTGGGCATCACCACAGTCTT	0.478																																																	0													85	83	84					X																	14627271		2203	4300	6503	SO:0001583	missense	0				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"Ligand-gated ion channels / Glycine receptors"	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.874A>T	X.37:g.14627271A>T	ENSP00000218075:p.Thr292Ser		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel	p.T292S	ENST00000218075.4	37	c.874	CCDS14160.1	X	.	.	.	.	.	.	.	.	.	.	A	26.6	4.752181	0.89753	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020	D;D;D	0.86769	-2.17;-2.17;-2.17	5.4	5.4	0.78164	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92825	0.7718	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	0.987;0.979;1.0	D;D;D	0.78314	0.946;0.973;0.991	D	0.93642	0.6965	10	0.87932	D	0	.	14.5375	0.67971	1.0:0.0:0.0:0.0	.	276;292;292	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	S	203;292;292	ENSP00000387756:T203S;ENSP00000218075:T292S;ENSP00000347123:T292S	ENSP00000218075:T292S	T	+	1	0	GLRA2	14537192	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.248000	0.95456	1.813000	0.52934	0.486000	0.48141	ACC	GLRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000101958		0.478	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1	-	0	14	0	A			14627271	1	tier1	-	no_errors	ENST00000218075	ensembl	human	known	74_37	missense	66.67	10	20	SNP	1.000	T	T	14627271	A	T	14627271	3	4	100	1	0	0	0	0	1	0	0	0	6481	159	6	5	972	5	GLRA2	23	14627271	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09		14627271	140643289	267	28575											
PIR	8544	genome.wustl.edu	37	chrX	15403203	15403203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaaatcaagaatagcttGagaaatctcttcattggtgt	13	14	8	6	0	4	3	2	2	2	2	5	4	4	3	0	1	1	1	0	1	5	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:15403203G>C	ENST00000380421.3	-	10	1256	c.796C>G	c.(796-798)Caa>Gaa	p.Q266E	FIGF_ENST00000297904.3_5'Flank|PIR_ENST00000380420.5_Missense_Mutation_p.Q266E	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	266					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					AGAATAGCTTGAGAAATCTCT	0.408																																					Ovarian(180;1587 2015 10555 34192 51653)												0													102	92	96					X																	15403203		2202	4300	6502	SO:0001583	missense	0			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.796C>G	X.37:g.15403203G>C	ENSP00000369786:p.Gln266Glu		Q5U0G0|Q6FHD2	Missense_Mutation	SNP	pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	p.Q266E	ENST00000380421.3	37	c.796	CCDS14167.1	X	.	.	.	.	.	.	.	.	.	.	G	11.06	1.529060	0.27387	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.43688	0.94;0.94	5.28	0.269	0.15631	Cupin, RmlC-type (1);Pirin, C-terminal (1);	0.320500	0.33477	N	0.004866	T	0.28532	0.0706	L	0.46567	1.45	0.38690	D	0.952747	B	0.02656	0.0	B	0.06405	0.002	T	0.06303	-1.0834	10	0.46703	T	0.11	0.0554	3.015	0.06057	0.1422:0.2304:0.4328:0.1946	.	266	O00625	PIR_HUMAN	E	266	ENSP00000369785:Q266E;ENSP00000369786:Q266E	ENSP00000369785:Q266E	Q	-	1	0	PIR	15313124	0.958000	0.32768	0.951000	0.38953	0.933000	0.57130	0.652000	0.24888	-0.329000	0.08527	-0.297000	0.09499	CAA	PIR	-	pfam_Pirin_C_dom,superfamily_RmlC_Cupin,pirsf_Pirin	ENSG00000087842		0.408	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	-	0	16	0	G	NM_003662		15403203	-1	tier1	-	no_errors	ENST00000380420	ensembl	human	known	74_37	missense	73.91	6	17	SNP	0.898	C	C	15403203	G	C	15403203	3	2	100	1	0	0	0	0	1	0	0	0	11983	1299	45	5	80	5	PIR	23	15403203	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	775932	15403203	139867357	268	28576											
MAP7D2	256714	genome.wustl.edu	37	chrX	20030483	20030483	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacctcacatccatagactGaacttcttcagttgaatcat	13	13	4	11	0	4	3	3	2	1	1	5	3	5	3	2	0	2	1	2	0	4	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:20030483G>A	ENST00000379651.3	-	14	1951	c.1933C>T	c.(1933-1935)Cag>Tag	p.Q645*	MAP7D2_ENST00000452324.3_Nonsense_Mutation_p.Q593*|MAP7D2_ENST00000379643.5_Nonsense_Mutation_p.Q686*|MAP7D2_ENST00000443379.3_Nonsense_Mutation_p.Q600*|MAP7D2_ENST00000543767.1_Nonsense_Mutation_p.Q530*	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	645					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCCATAGACTGAACTTCTTCA	0.398																																																	0													149	145	147					X																	20030483		2203	4300	6503	SO:0001587	stop_gained	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1933C>T	X.37:g.20030483G>A	ENSP00000368972:p.Gln645*		B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Nonsense_Mutation	SNP	pfam_MAP7	p.Q686*	ENST00000379651.3	37	c.2056	CCDS14195.1	X	.	.	.	.	.	.	.	.	.	.	G	38	7.112271	0.98070	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	.	.	.	5.54	4.65	0.58169	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-22.4837	14.7694	0.69665	0.0:0.0:0.8546:0.1454	.	.	.	.	X	645;686;530;600;328;593	.	ENSP00000368964:Q686X	Q	-	1	0	MAP7D2	19940404	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.523000	0.67099	1.063000	0.40649	0.525000	0.51046	CAG	MAP7D2	-	NULL	ENSG00000184368		0.398	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	HGNC	protein_coding	OTTHUMT00000056001.1	-	0	30	0	G	NM_152780		20030483	-1	tier1	-	no_errors	ENST00000379643	ensembl	human	known	74_37	nonsense	68.18	7	15	SNP	1.000	A	A	20030483	G	A	20030483	4	1	100	1	0	0	0	0	0	1	0	0	9306	1299	45	3	273	3	MAP7D2	23	20030483	Nonsense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	4627280	20030483	135240077	269	28577											
ZC3H12B	340554	genome.wustl.edu	37	chrX	64722232	64722232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actattcaatgttaggtgacTtctccaaactgaacatcaac	14	12	5	10	0	3	2	2	2	1	0	4	2	3	2	1	1	3	1	1	1	6	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:64722232T>C	ENST00000338957.4	+	5	1721	c.1654T>C	c.(1654-1656)Ttc>Ctc	p.F552L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.F541L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	552							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTAGGTGACTTCTCCAAACT	0.478																																																	0													47	45	45					X																	64722232		1937	4125	6062	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"Zinc fingers, CCCH-type domain containing"	17407	protein-coding gene	gene with protein product	"MCP induced protein 2"	300889	"chromosome X open reading frame 32"	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1654T>C	X.37:g.64722232T>C	ENSP00000340839:p.Phe552Leu		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.F552L	ENST00000338957.4	37	c.1654	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656830	0.67586	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.29142	1.58;1.58	4.95	4.95	0.65309	.	0.045990	0.85682	D	0.000000	T	0.49012	0.1532	L	0.57536	1.79	0.53005	D	0.999962	D	0.69078	0.997	D	0.70716	0.97	T	0.45542	-0.9254	10	0.45353	T	0.12	-24.0848	12.4661	0.55759	0.0:0.0:0.0:1.0	.	541	Q5HYM0	ZC12B_HUMAN	L	552;541;488	ENSP00000340839:F552L;ENSP00000408077:F541L	ENSP00000218172:F488L	F	+	1	0	ZC3H12B	64638957	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.572000	0.60886	1.825000	0.53177	0.417000	0.27973	TTC	ZC3H12B	-	NULL	ENSG00000102053		0.478	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	-	0	18	0	T	XM_293334		64722232	1	tier1	-	no_errors	ENST00000338957	ensembl	human	known	74_37	missense	80.77	5	21	SNP	1.000	C	C	64722232	T	C	64722232	3	2	100	1	0	0	0	0	1	0	0	0	17610	1609	56	4	1672	4	ZC3H12B	23	64722232	Missense_Mutation	SNP	T	TCGA-LN-A49M-01A-21D-A27G-09	44691749	64722232	90548328	270	28578											
AWAT2	158835	genome.wustl.edu	37	chrX	69263824	69263824	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccacaggcgccagtgcctCacacaggtaaaccggcggcc	9	5	11	16	3	1	0	1	0	0	0	2	0	2	0	5	4	2	1	5	4	2	2			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:69263824C>G	ENST00000276101.3	-	3	224	c.219G>C	c.(217-219)gtG>gtC	p.V73V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	73					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GCCAGTGCCTCACACAGGTAA	0.612																																					NSCLC(80;1334 1436 9350 24214 26427)												0													34	28	30					X																	69263824		2201	4298	6499	SO:0001819	synonymous_variant	0			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"multifunctional O-acyltransferase"	300925	"diacylglycerol O-acyltransferase 2-like 4"	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.219G>C	X.37:g.69263824C>G			Q6IEE3|Q6P437	Silent	SNP	pfam_DAGAT	p.V73	ENST00000276101.3	37	c.219	CCDS35320.1	X																																																																																			AWAT2	-	pfam_DAGAT	ENSG00000147160		0.612	AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT2	HGNC	protein_coding	OTTHUMT00000358738.1	-	0	32	0	C	NM_001002254		69263824	-1	tier1	-	no_errors	ENST00000276101	ensembl	human	known	74_37	silent	65.12	15	28	SNP	0.464	G	G	69263824	C	G	69263824	2	3	100	1	0	0	0	0	0	0	0	1	1236	813	29	5		5	AWAT2	23	69263824	Silent	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	4541592	69263824	86006736	271	28579											
TEX11	56159	genome.wustl.edu	37	chrX	69871378	69871378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcctagggtcatgtcgttCagcttctgccactgcctctt	4	15	9	13	1	4	0	2	0	2	0	6	0	5	0	3	1	3	3	3	1	1	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:69871378C>T	ENST00000395889.2	-	18	1605	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	TEX11_ENST00000374333.2_Missense_Mutation_p.E469K|TEX11_ENST00000344304.3_Missense_Mutation_p.E484K|TEX11_ENST00000374320.2_Missense_Mutation_p.E159K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	484					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCATGTCGTTCAGCTTCTGCC	0.353																																																	0													46	43	44					X																	69871378		2203	4299	6502	SO:0001583	missense	0			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"testis expressed sequence 11"			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1450G>A	X.37:g.69871378C>T	ENSP00000379226:p.Glu484Lys		A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	pfam_Meiosis_specific_SPO22,smart_TPR_repeat	p.E484K	ENST00000395889.2	37	c.1450	CCDS35323.1	X	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907632	0.52333	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	2.98	2.98	0.34508	Tetratricopeptide-like helical (1);	0.144296	0.44902	D	0.000404	T	0.78685	0.4322	M	0.68952	2.095	0.09310	N	1	D;P	0.56035	0.974;0.956	P;P	0.57009	0.811;0.651	T	0.68277	-0.5451	9	.	.	.	-4.7451	8.7125	0.34393	0.0:1.0:0.0:0.0	.	469;484	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	K	469;484;159;484	ENSP00000363453:E469K;ENSP00000379226:E484K;ENSP00000363440:E159K;ENSP00000340995:E484K	.	E	-	1	0	TEX11	69788103	1.000000	0.71417	0.027000	0.17364	0.467000	0.32768	3.683000	0.54663	1.476000	0.48215	0.513000	0.50165	GAA	TEX11	-	smart_TPR_repeat	ENSG00000120498		0.353	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX11	HGNC	protein_coding	OTTHUMT00000359072.1	-	0	23	0	C			69871378	-1	tier1	-	no_errors	ENST00000344304	ensembl	human	known	74_37	missense	67.50	13	27	SNP	0.173	T	T	69871378	C	T	69871378	3	4	100	1	0	0	0	0	1	0	0	0	15821	835	29	3	1428	3	TEX11	23	69871378	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	607554	69871378	85399182	272	28580											
RPS6KA6	27330	genome.wustl.edu	37	chrX	83361419	83361419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcatgtatgcatcgcttgCaaacagagtaggagccaaca	13	9	10	9	1	0	1	0	0	0	1	1	2	0	2	1	1	6	6	1	1	4	4			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:83361419C>A	ENST00000262752.2	-	15	1326	c.1319G>T	c.(1318-1320)tGc>tTc	p.C440F	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.C440F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	440	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCATCGCTTGCAAACAGAGTA	0.338																																																	0													121	89	100					X																	83361419		2203	4299	6502	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1319G>T	X.37:g.83361419C>A	ENSP00000262752:p.Cys440Phe		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	p.C440F	ENST00000262752.2	37	c.1319	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424748	0.83667	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.39229	1.09;1.09	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57036	0.2026	L	0.58510	1.815	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.55713	0.782;0.741	T	0.60984	-0.7154	10	0.87932	D	0	.	18.2848	0.90111	0.0:1.0:0.0:0.0	.	440;440	B7ZL90;Q9UK32	.;KS6A6_HUMAN	F	440	ENSP00000262752:C440F;ENSP00000440830:C440F	ENSP00000262752:C440F	C	-	2	0	RPS6KA6	83248075	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.597000	0.82733	2.257000	0.74773	0.422000	0.28245	TGC	RPS6KA6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000072133		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	HGNC	protein_coding	OTTHUMT00000057372.1	-	0	18	0	C	NM_014496		83361419	-1	tier1	-	no_errors	ENST00000262752	ensembl	human	known	74_37	missense	47.50	21	19	SNP	1.000	A	A	83361419	C	A	83361419	3	1	100	1	0	0	0	0	1	0	0	0	13700	710	25	3	950	3	RPS6KA6	23	83361419	Missense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	13490041	83361419	71909141	273	28581											
AMOT	154796	genome.wustl.edu	37	chrX	112024179	112024179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgggggagccagtcagggtgGatgagtgggagagcaagcct	9	6	20	6	0	1	2	1	1	0	1	1	5	1	4	2	5	3	1	2	5	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:112024179G>A	ENST00000524145.1	-	10	2482	c.2408C>T	c.(2407-2409)tCc>tTc	p.S803F	AMOT_ENST00000371959.3_Missense_Mutation_p.S803F|AMOT_ENST00000371958.1_Missense_Mutation_p.S571F|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.S571F|AMOT_ENST00000304758.1_Missense_Mutation_p.S394F			Q4VCS5	AMOT_HUMAN	angiomotin	803					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AGTCAGGGTGGATGAGTGGGA	0.532																																																	0													155	140	145					X																	112024179		2203	4300	6503	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2408C>T	X.37:g.112024179G>A	ENSP00000429013:p.Ser803Phe		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.S803F	ENST00000524145.1	37	c.2408	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122820	0.77436	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214;ENST00000371958	T;T;T;T;T	0.39997	1.05;2.19;2.44;2.19;1.88	5.69	3.91	0.45181	Angiomotin, C-terminal (1);	0.132843	0.56097	N	0.000021	T	0.35278	0.0926	L	0.44542	1.39	0.43296	D	0.995285	B	0.11235	0.004	B	0.12156	0.007	T	0.20338	-1.0278	10	0.62326	D	0.03	-4.3522	11.013	0.47673	0.1557:0.0:0.8443:0.0	.	803	Q4VCS5	AMOT_HUMAN	F	394;803;571;803;43;571	ENSP00000305557:S394F;ENSP00000361027:S803F;ENSP00000361030:S571F;ENSP00000429013:S803F;ENSP00000361026:S571F	ENSP00000305557:S394F	S	-	2	0	AMOT	111910835	1.000000	0.71417	0.959000	0.39883	0.980000	0.70556	4.869000	0.63028	1.160000	0.42584	0.600000	0.82982	TCC	AMOT	-	pfam_Angiomotin_C	ENSG00000126016		0.532	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	-	0	20	0	G	NM_133265		112024179	-1	tier1	-	no_errors	ENST00000371959	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.995	A	A	112024179	G	A	112024179	3	1	100	1	0	0	0	0	1	0	0	0	582	1174	41	3	858	3	AMOT	23	112024179	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	28662760	112024179	43246381	274	28582											
XPNPEP2	7512	genome.wustl.edu	37	chrX	128885744	128885744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcaaccttcgagccagtGacatcccctataaccccttc	9	11	4	17	1	2	1	1	1	1	0	5	2	3	1	6	0	3	0	6	0	3	5			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:128885744G>C	ENST00000371106.3	+	9	955	c.763G>C	c.(763-765)Gac>Cac	p.D255H		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	255						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TCGAGCCAGTGACATCCCCTA	0.438																																																	0													243	245	244					X																	128885744		2203	4300	6503	SO:0001583	missense	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.763G>C	X.37:g.128885744G>C	ENSP00000360147:p.Asp255His		A0AV16|O75994	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.D255H	ENST00000371106.3	37	c.763	CCDS14613.1	X	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403630	0.83230	.	.	ENSG00000122121	ENST00000371106	T	0.74632	-0.86	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.90497	0.7023	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93401	0.6760	10	0.87932	D	0	-29.5569	15.5497	0.76141	0.0:0.0:1.0:0.0	.	255	O43895	XPP2_HUMAN	H	255	ENSP00000360147:D255H	ENSP00000360147:D255H	D	+	1	0	XPNPEP2	128713425	1.000000	0.71417	0.982000	0.44146	0.956000	0.61745	8.711000	0.91396	2.266000	0.75297	0.436000	0.28706	GAC	XPNPEP2	-	NULL	ENSG00000122121		0.438	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	-	0	49	0	G	NM_003399		128885744	1	tier1	-	no_errors	ENST00000371106	ensembl	human	known	74_37	missense	52.24	32	35	SNP	1.000	C	C	128885744	G	C	128885744	3	2	100	1	0	0	0	0	1	0	0	0	17492	1290	45	5	797	5	XPNPEP2	23	128885744	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	16861565	128885744	26384816	275	28583											
MAGEC2	51438	genome.wustl.edu	37	chrX	141290896	141290896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaattcataatatggaggaGaactgtggggcacctcccga	12	8	13	8	1	1	1	1	0	0	1	2	5	2	3	2	5	1	1	2	5	4	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:141290896G>A	ENST00000247452.3	-	3	1225	c.878C>T	c.(877-879)tCt>tTt	p.S293F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	293	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATATGGAGGAGAACTGTGGGG	0.507										HNSCC(46;0.14)																																							0													83	83	83					X																	141290896		2203	4300	6503	SO:0001583	missense	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.878C>T	X.37:g.141290896G>A	ENSP00000354660:p.Ser293Phe		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S293F	ENST00000247452.3	37	c.878	CCDS14678.1	X	.	.	.	.	.	.	.	.	.	.	-	10.86	1.469594	0.26423	.	.	ENSG00000046774	ENST00000247452	T	0.05382	3.45	0.988	-0.414	0.12359	.	0.651748	0.13406	U	0.390244	T	0.08358	0.0208	L	0.29908	0.895	0.09310	N	1	P	0.35908	0.527	P	0.50192	0.634	T	0.38067	-0.9678	10	0.87932	D	0	.	3.6472	0.08189	0.0:0.0:0.4491:0.5509	.	293	Q9UBF1	MAGC2_HUMAN	F	293	ENSP00000354660:S293F	ENSP00000354660:S293F	S	-	2	0	MAGEC2	141118562	0.469000	0.25846	0.011000	0.14972	0.121000	0.20230	0.783000	0.26802	-0.176000	0.10707	0.284000	0.19432	TCT	MAGEC2	-	pfam_MAGE,pfscan_MAGE	ENSG00000046774		0.507	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	-	0	21	0	G	NM_016249		141290896	-1	tier1	-	no_errors	ENST00000247452	ensembl	human	known	74_37	missense	29.03	44	18	SNP	0.011	A	A	141290896	G	A	141290896	3	1	100	1	0	0	0	0	1	0	0	0	9219	942	33	3	247	3	MAGEC2	23	141290896	Missense_Mutation	SNP	G	TCGA-LN-A49M-01A-21D-A27G-09	12405152	141290896	13979664	276	28584											
AVPR2	554	genome.wustl.edu	37	chrX	153171021	153171021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctgcccagcctgcccAgcaacagcagccaggagagg	9	4	11	17	0	1	1	0	0	1	1	2	2	1	1	5	2	7	2	5	2	1	0			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:153171021A>G	ENST00000358927.2	+	3	270	c.61A>G	c.(61-63)Agc>Ggc	p.S21G	AVPR2_ENST00000337474.5_Missense_Mutation_p.S21G|AVPR2_ENST00000370049.1_Missense_Mutation_p.S21G			P30518	V2R_HUMAN	arginine vasopressin receptor 2	21					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAGCCTGCCCAGCAACAGCAG	0.677																																																	0													6	8	7					X																	153171021		2110	4146	6256	SO:0001583	missense	0			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"GPCR / Class A : Vasopressin and oxytocin receptors"	897	protein-coding gene	gene with protein product	"nephrogenic diabetes insipidus"	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.61A>G	X.37:g.153171021A>G	ENSP00000351805:p.Ser21Gly		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.S21G	ENST00000358927.2	37	c.61	CCDS14735.1	X	.	.	.	.	.	.	.	.	.	.	A	7.522	0.656883	0.14580	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.75938	-0.98;-0.81;-0.98;-0.45	4.03	-0.684	0.11331	.	1.036640	0.07660	N	0.933510	T	0.41604	0.1166	N	0.01352	-0.895	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25847	-1.0120	10	0.13470	T	0.59	-10.0096	7.0647	0.25145	0.4834:0.0:0.5166:0.0	.	21;21	P30518-2;P30518	.;V2R_HUMAN	G	21	ENSP00000351805:S21G;ENSP00000393513:S21G;ENSP00000338072:S21G;ENSP00000359066:S21G	ENSP00000338072:S21G	S	+	1	0	AVPR2	152824215	0.000000	0.05858	0.152000	0.22495	0.368000	0.29767	-0.331000	0.07914	-0.198000	0.10333	0.144000	0.16011	AGC	AVPR2	-	prints_Vprsn_rcpt_V2	ENSG00000126895		0.677	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	HGNC	protein_coding	OTTHUMT00000061127.2	-	0	27	0	A			153171021	1	tier1	-	no_errors	ENST00000337474	ensembl	human	known	74_37	missense	6.33	74	5	SNP	0.065	G	G	153171021	A	G	153171021	3	3	100	1	0	0	0	0	1	0	0	0	1234	188	7	4	67	4	AVPR2	23	153171021	Missense_Mutation	SNP	A	TCGA-LN-A49M-01A-21D-A27G-09	11880125	153171021	2099539	277	28585											
FLNA	2316	genome.wustl.edu	37	chrX	153589759	153589759	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcataggtcacctccacctCatagggcccttcctcacggg	7	9	9	16	1	4	0	4	0	0	0	6	0	6	0	5	3	0	0	5	3	2	3			TCGA-LN-A49M-01A-21D-A27G-09	TCGA-LN-A49M-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c633253f-7f42-4fa0-bd73-2d24487c0acd	4145a8ee-5e08-48aa-861b-6a8a6bfe3fb2	g.chrX:153589759C>A	ENST00000369850.3	-	21	3360	c.3124G>T	c.(3124-3126)Gag>Tag	p.E1042*	FLNA_ENST00000344736.4_Nonsense_Mutation_p.E1042*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.E1042*|FLNA_ENST00000422373.1_Nonsense_Mutation_p.E1042*	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1042					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTCCACCTCATAGGGCCCT	0.657																																																	0													57	60	59					X																	153589759		2092	4186	6278	SO:0001587	stop_gained	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"actin binding protein 280"	300017	"filamin A, alpha (actin binding protein 280)"	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3124G>T	X.37:g.153589759C>A	ENSP00000358866:p.Glu1042*		E9KL45|Q5HY53|Q5HY55|Q8NF52	Nonsense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1042*	ENST00000369850.3	37	c.3124	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	44	10.653819	0.99445	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	.	.	.	5.51	4.62	0.57501	.	0.144833	0.45126	D	0.000386	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	15.3065	0.73995	0.0:0.8632:0.1368:0.0	.	.	.	.	X	1042;1015;1042;1042;1042	.	ENSP00000358863:E1042X	E	-	1	0	FLNA	153242953	0.001000	0.12720	0.895000	0.35142	0.978000	0.69477	-0.013000	0.12678	1.053000	0.40415	0.523000	0.50628	GAG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.657	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	-	0	37	0	C			153589759	-1	tier1	-	no_errors	ENST00000369850	ensembl	human	known	74_37	nonsense	18.84	56	13	SNP	0.952	A	A	153589759	C	A	153589759	4	1	100	1	0	0	0	0	0	1	0	0	5955	835	29	3	4931	3	FLNA	23	153589759	Nonsense_Mutation	SNP	C	TCGA-LN-A49M-01A-21D-A27G-09	418738	153589759	1680801	278	28586											
CDK11A	728642	genome.wustl.edu	37	chr1	1647791	1647791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagcccactcacctttctCtcctggaatgctcccttgcc	5	11	5	20	0	2	0	1	0	1	0	5	1	4	1	6	1	3	1	6	1	1	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:1647791C>T	ENST00000378633.1	-	5	531	c.452G>A	c.(451-453)aGa>aAa	p.R151K	CDK11A_ENST00000378635.3_Missense_Mutation_p.R151K|CDK11A_ENST00000357760.2_Missense_Mutation_p.R151K|CDK11A_ENST00000378638.2_Missense_Mutation_p.R127K|CDK11A_ENST00000358779.5_Missense_Mutation_p.R151K|CDK11A_ENST00000356200.3_Missense_Mutation_p.R127K|CDK11A_ENST00000404249.3_Missense_Mutation_p.R161K|RP1-283E3.8_ENST00000598846.1_RNA			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	151	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						TCACCTTTCTCTCCTGGAATG	0.498																																					Pancreas(186;965 2119 30274 40311 50569)												0													209	210	210					1																	1647791		2011	4174	6185	SO:0001583	missense	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.452G>A	1.37:g.1647791C>T	ENSP00000367900:p.Arg151Lys		O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R161K	ENST00000378633.1	37	c.482		1	.	.	.	.	.	.	.	.	.	.	-	17.72	3.459489	0.63401	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71;2.71;2.71	4.56	3.64	0.41730	.	0.671525	0.12570	U	0.457391	T	0.23926	0.0579	L	0.29908	0.895	0.43959	D	0.996633	B;D;D;D;D;P;D;D;D;B;D;P	0.71674	0.43;0.982;0.958;0.972;0.99;0.902;0.972;0.998;0.994;0.234;0.996;0.85	B;D;P;P;P;D;P;D;P;B;D;P	0.81914	0.365;0.952;0.799;0.615;0.848;0.91;0.615;0.995;0.907;0.042;0.936;0.463	T	0.01283	-1.1396	10	0.30854	T	0.27	.	11.68	0.51453	0.0:0.9143:0.0:0.0857	.	161;151;161;151;161;151;127;153;151;119;163;163	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2;P21127	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.;CD11B_HUMAN	K	127;161;151;151;151;127;127;151;151	ENSP00000348529:R127K;ENSP00000384442:R161K;ENSP00000350403:R151K;ENSP00000351629:R151K;ENSP00000367900:R151K;ENSP00000367905:R127K;ENSP00000367902:R151K;ENSP00000423900:R151K	ENSP00000348529:R127K	R	-	2	0	CDK11A	1637651	1.000000	0.71417	0.996000	0.52242	0.215000	0.24574	6.260000	0.72502	1.132000	0.42129	0.543000	0.68304	AGA	CDK11A	-	NULL	ENSG00000008128		0.498	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	-	0	80	0	C	NM_024011		1647791	-1	tier1	-	no_errors	ENST00000404249	ensembl	human	known	74_37	missense	10.00	72	8	SNP	1.000	T	T	1647791	C	T	1647791	3	4	101	1	0	0	0	0	1	0	0	0	3133	913	32	3	1924	3	CDK11A	1	1647791	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		1647791	247602830	1	28587											
C1orf173	127254	genome.wustl.edu	37	chr1	75039106	75039106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtatacgttttttgcAccaattgctgggattccttg	7	16	9	9	1	0	0	0	0	0	0	1	1	1	1	3	1	3	4	3	1	3	8			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:75039106A>G	ENST00000326665.5	-	14	2506	c.2288T>C	c.(2287-2289)gTg>gCg	p.V763A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		763	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGTTTTTTGCACCAATTGCTG	0.423																																																	0													94	97	96					1																	75039106		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.2288T>C	1.37:g.75039106A>G	ENSP00000322609:p.Val763Ala		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.V763A	ENST00000326665.5	37	c.2288	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	0.173	-1.069666	0.01918	.	.	ENSG00000178965	ENST00000326665	T	0.10288	2.89	5.26	3.39	0.38822	.	.	.	.	.	T	0.00724	0.0024	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48479	-0.9032	9	0.02654	T	1	0.1919	4.3161	0.10993	0.2337:0.0:0.5275:0.2389	.	763	Q5RHP9	CA173_HUMAN	A	763	ENSP00000322609:V763A	ENSP00000322609:V763A	V	-	2	0	C1orf173	74811694	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.448000	0.06820	0.339000	0.23719	-0.119000	0.15052	GTG	C1orf173	-	NULL	ENSG00000178965		0.423	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	79	0	A			75039106	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	9.86	64	7	SNP	0.000	G	G	75039106	A	G	75039106	3	3	101	1	0	0	0	0	1	0	0	0	2021	159	6	4	2308	4	C1orf173	1	75039106	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	73391315	75039106	174211515	2	28588											
PRPF3	9129	genome.wustl.edu	37	chr1	150307544	150307544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatattcgtgctgtgaaGagggaacaattcaagcaaca	15	8	10	8	1	1	2	1	1	0	1	2	3	1	3	1	1	4	2	1	1	7	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:150307544G>T	ENST00000324862.6	+	7	1032	c.867G>T	c.(865-867)aaG>aaT	p.K289N	PRPF3_ENST00000414970.2_Missense_Mutation_p.K240N|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_Missense_Mutation_p.K154N	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	289					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GTGCTGTGAAGAGGGAACAAT	0.498																																					Ovarian(168;1070 2670 5178 20729)												0													106	88	94					1																	150307544		2203	4300	6503	SO:0001583	missense	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.867G>T	1.37:g.150307544G>T	ENSP00000315379:p.Lys289Asn		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.K289N	ENST00000324862.6	37	c.867	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925240	0.52759	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	T;T	0.79454	-1.27;-1.26	5.78	1.74	0.24563	.	0.042725	0.85682	D	0.000000	T	0.58878	0.2153	M	0.70787	2.145	0.58432	D	0.999996	B;B	0.33345	0.409;0.409	B;B	0.30029	0.11;0.11	T	0.58629	-0.7603	10	0.44086	T	0.13	-16.6989	8.6596	0.34084	0.3674:0.0:0.6326:0.0	.	240;289	E7EVD1;O43395	.;PRPF3_HUMAN	N	289;240;154	ENSP00000315379:K289N;ENSP00000387844:K240N	ENSP00000315379:K289N	K	+	3	2	PRPF3	148574168	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.413000	0.34725	0.429000	0.26202	-0.140000	0.14226	AAG	PRPF3	-	NULL	ENSG00000117360		0.498	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1		0	44	0	G	NM_004698		150307544	1			no_errors	ENST00000324862	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T	T	150307544	G	T	150307544	3	4	101	1	0	0	0	0	1	0	0	0	12607	933	33	3	889	3	PRPF3	1	150307544	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	75268438	150307544	98943077	3	28589											
S100A12	6283	genome.wustl.edu	37	chr1	153346937	153346937	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcacctaccttgatGgtgtttgcaagctcctttgt	6	14	11	10	0	1	1	1	1	0	0	2	1	2	1	3	3	3	4	3	3	2	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:153346937G>T	ENST00000368737.3	-	2	249	c.132C>A	c.(130-132)acC>acA	p.T44T		NM_005621.1	NP_005612.1	P80511	S10AC_HUMAN	S100 calcium binding protein A12	44	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Hinge domain.				cytokine secretion (GO:0050663)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|mast cell activation (GO:0045576)|monocyte chemotaxis (GO:0002548)|neutrophil chemotaxis (GO:0030593)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)|Olopatadine(DB00768)	CTACCTTGATGGTGTTTGCAA	0.537																																																	0													153	127	136					1																	153346937		2203	4300	6503	SO:0001819	synonymous_variant	0			BC070294	CCDS1037.1	1q21	2013-01-10	2006-09-11		ENSG00000163221	ENSG00000163221		"S100 calcium binding proteins", "EF-hand domain containing"	10489	protein-coding gene	gene with protein product		603112	"S100 calcium-binding protein A12 (calgranulin C)", "S100 calcium binding protein A12 (calgranulin C)"			8985590	Standard	NM_005621		Approved	p6, MRP6, CGRP, CAAF1, CAGC, ENRAGE	uc001fbr.1	P80511	OTTHUMG00000013127	ENST00000368737.3:c.132C>A	1.37:g.153346937G>T			P83219|Q5SY66|Q7M4R1	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.T44	ENST00000368737.3	37	c.132	CCDS1037.1	1																																																																																			S100A12	-	pfam_S100_Ca-bd_sub	ENSG00000163221		0.537	S100A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A12	HGNC	protein_coding	OTTHUMT00000036795.1	-	0	43	0	G	NM_005621		153346937	-1	tier1	-	no_errors	ENST00000368737	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.000	T	T	153346937	G	T	153346937	2	4	101	1	0	0	0	0	0	0	0	1	13819	1335	47	3		3	S100A12	1	153346937	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	3039393	153346937	95903684	4	28590											
SPTA1	6708	genome.wustl.edu	37	chr1	158636283	158636283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttggcctcatgcaactgGgtccctgggagaagacataa	10	9	13	9	0	1	2	1	0	0	2	2	3	2	2	2	4	2	2	2	4	3	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:158636283G>T	ENST00000368147.4	-	16	2223	c.2043C>A	c.(2041-2043)acC>acA	p.T681T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	681					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.Q682K(1)|p.T681T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATGCAACTGGGTCCCTGGGA	0.428																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											39	38	39					1																	158636283		1933	4134	6067	SO:0001819	synonymous_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"EF-hand domain containing"	11272	protein-coding gene	gene with protein product	"elliptocytosis 2"	182860	"spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2043C>A	1.37:g.158636283G>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.T681	ENST00000368147.4	37	c.2043	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3		0	14	0	G	NM_003126		158636283	-1			no_errors	ENST00000368147	ensembl	human	known	74_37	silent	12.50	14	2	SNP	0.144	T	T	158636283	G	T	158636283	2	4	101	1	0	0	0	0	0	0	0	1	15163	1219	43	3		3	SPTA1	1	158636283	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	5289346	158636283	90614338	5	28591											
DPT	1805	genome.wustl.edu	37	chr1	168698182	168698182	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctctgtggcgtgggcatGcaggcgtagttccattgtct	5	12	15	9	2	2	0	0	0	2	0	3	0	3	0	1	4	1	5	1	4	1	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:168698182G>T	ENST00000367817.3	-	1	320	c.231C>A	c.(229-231)tgC>tgA	p.C77*		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	77	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GCGTGGGCATGCAGGCGTAGT	0.592																																																	0													169	132	145					1																	168698182		2203	4300	6503	SO:0001587	stop_gained	0			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.231C>A	1.37:g.168698182G>T	ENSP00000356791:p.Cys77*		A8K981|Q8N4R2|Q9UIX8	Nonsense_Mutation	SNP	NULL	p.C77*	ENST00000367817.3	37	c.231	CCDS1275.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.567240	0.97671	.	.	ENSG00000143196	ENST00000367817	.	.	.	5.0	3.12	0.35913	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0064	8.1832	0.31324	0.2485:0.0:0.7515:0.0	.	.	.	.	X	77	.	ENSP00000356791:C77X	C	-	3	2	DPT	166964806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.230000	0.51286	0.498000	0.27948	0.655000	0.94253	TGC	DPT	-	NULL	ENSG00000143196		0.592	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1		0	45	0	G	NM_001937		168698182	-1			no_errors	ENST00000367817	ensembl	human	known	74_37	nonsense	6.98	40	3	SNP	1.000	T	T	168698182	G	T	168698182	4	4	101	1	0	0	0	0	0	1	0	0	4753	1311	46	3	390	3	DPT	1	168698182	Nonsense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	10061899	168698182	80552439	6	28592											
SEC16B	89866	genome.wustl.edu	37	chr1	177902668	177902668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctctctgggcagtatttCggggagagtttttatcagcc	6	14	12	9	1	2	1	1	0	1	1	4	2	2	1	2	3	2	3	2	3	2	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:177902668C>T	ENST00000308284.6	-	21	2764	c.2675G>A	c.(2674-2676)cGa>cAa	p.R892Q	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	892					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.R893L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGCAGTATTTCGGGGAGAGTT	0.532																																																	1	Substitution - Missense(1)	lung(1)											79	81	80					1																	177902668		1896	4128	6024	SO:0001583	missense	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"regucalcin gene promotor region related protein"	612855	"leucine zipper transcription regulator 2"	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2675G>A	1.37:g.177902668C>T	ENSP00000308339:p.Arg892Gln		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	NULL	p.R892Q	ENST00000308284.6	37	c.2675	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129153	0.08981	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.12774	2.65	5.54	-11.1	0.00147	.	1.754910	0.02450	N	0.085512	T	0.02970	0.0088	N	0.00358	-1.6	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36625	-0.9740	10	0.16896	T	0.51	8.4379	12.1738	0.54173	0.0:0.2568:0.5762:0.167	.	447;893;892;589	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	Q	892;576;607	ENSP00000308339:R892Q	ENSP00000239472:R607Q	R	-	2	0	AL359075.1	176169291	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.039000	0.01418	-3.094000	0.00246	-1.108000	0.02087	CGA	SEC16B	-	NULL	ENSG00000120341		0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	HGNC	protein_coding	OTTHUMT00000084773.16		0	41	0	C	NM_033127		177902668	-1			no_errors	ENST00000308284	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.000	T	T	177902668	C	T	177902668	3	4	101	1	0	0	0	0	1	0	0	0	14032	884	31	1	531	1	SEC16B	1	177902668	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	9204486	177902668	71347953	7	28593											
LGR6	59352	genome.wustl.edu	37	chr1	202278273	202278273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaccttgctctctcccagGccttctccaaggacagtttc	7	11	8	15	0	2	0	0	0	2	0	6	2	3	2	4	3	2	2	4	3	2	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:202278273G>T	ENST00000367278.3	+	15	1464	c.1375G>T	c.(1375-1377)Gcc>Tcc	p.A459S	LGR6_ENST00000255432.7_Missense_Mutation_p.A407S|LGR6_ENST00000439764.2_Missense_Mutation_p.A320S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	459					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTCCCAGGCCTTCTCCAA	0.582																																																	0													109	93	98					1																	202278273		2203	4300	6503	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"GPCR / Class A : Orphans"	19719	protein-coding gene	gene with protein product		606653	"leucine-rich repeat-containing G protein-coupled receptor 6"			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1375G>T	1.37:g.202278273G>T	ENSP00000356247:p.Ala459Ser		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.A459S	ENST00000367278.3	37	c.1375	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327353	0.24080	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.24350	5.49;4.32;1.86	5.64	1.58	0.23477	.	0.464580	0.24703	N	0.036295	T	0.13798	0.0334	L	0.38175	1.15	0.28385	N	0.919331	B;B;B	0.30584	0.286;0.123;0.015	B;B;B	0.28709	0.093;0.055;0.01	T	0.24190	-1.0167	10	0.11794	T	0.64	.	3.965	0.09428	0.1445:0.3735:0.3704:0.1117	.	320;407;459	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	S	459;407;320	ENSP00000356247:A459S;ENSP00000255432:A407S;ENSP00000387869:A320S	ENSP00000255432:A407S	A	+	1	0	LGR6	200544896	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	1.750000	0.38329	0.035000	0.15519	0.561000	0.74099	GCC	LGR6	-	NULL	ENSG00000133067		0.582	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	-	0	59	0	G	NM_021636		202278273	1	tier1	-	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.985	T	T	202278273	G	T	202278273	3	4	101	1	0	0	0	0	1	0	0	0	8787	1203	42	3	1580	3	LGR6	1	202278273	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	24375605	202278273	46972348	8	28594											
UBE2T	29089	genome.wustl.edu	37	chr1	202302447	202302447	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacagttgcgatgttgaggGatggtctccaagcaccctat	10	10	11	10	1	1	1	0	1	1	0	2	3	1	2	2	2	2	3	2	2	2	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr1:202302447G>T	ENST00000367274.4	-	5	451	c.302C>A	c.(301-303)tCc>tAc	p.S101Y		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	101					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						GATGTTGAGGGATGGTCTCCA	0.408																																																	0													227	223	224					1																	202302447		2203	4300	6503	SO:0001583	missense	0			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"Ubiquitin-conjugating enzymes E2"	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.302C>A	1.37:g.202302447G>T	ENSP00000356243:p.Ser101Tyr		Q2TU36	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.S101Y	ENST00000367274.4	37	c.302	CCDS1425.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024348	0.93462	.	.	ENSG00000077152	ENST00000367274	T	0.38560	1.13	5.82	5.82	0.92795	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.105878	0.64402	D	0.000002	T	0.74092	0.3671	M	0.93241	3.395	0.80722	D	1	D	0.69078	0.997	D	0.69654	0.965	T	0.80747	-0.1244	10	0.87932	D	0	-9.7933	18.8624	0.92278	0.0:0.0:1.0:0.0	.	101	Q9NPD8	UBE2T_HUMAN	Y	101	ENSP00000356243:S101Y	ENSP00000356243:S101Y	S	-	2	0	UBE2T	200569070	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.304000	0.96190	2.755000	0.94549	0.591000	0.81541	TCC	UBE2T	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000077152		0.408	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	-	0	57	0	G	NM_014176		202302447	-1	tier1	-	no_errors	ENST00000367274	ensembl	human	known	74_37	missense	20.93	34	9	SNP	1.000	T	T	202302447	G	T	202302447	3	4	101	1	0	0	0	0	1	0	0	0	16922	1174	41	3	303	3	UBE2T	1	202302447	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	24174	202302447	46948174	9	28595											
SNTG2	54221	genome.wustl.edu	37	chr2	1204912	1204912	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaagccggaacggaaaaaTtaaggtgtgtgaccattgtc	15	8	11	7	2	0	1	0	1	0	0	1	3	0	3	2	3	2	0	2	3	5	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:1204912T>A	ENST00000308624.5	+	9	844	c.715T>A	c.(715-717)Tta>Ata	p.L239I	SNTG2_ENST00000407292.1_Missense_Mutation_p.L112I|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	239					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AACGGAAAAATTAAGGTGTGT	0.527																																																	0													142	146	145					2																	1204912		1947	4155	6102	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.715T>A	2.37:g.1204912T>A	ENSP00000311837:p.Leu239Ile		Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L239I	ENST00000308624.5	37	c.715	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016969	0.35606	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.55413	0.52;0.52	4.03	0.068	0.14368	.	0.352881	0.25264	N	0.031939	T	0.43831	0.1265	M	0.64170	1.965	0.45594	D	0.998532	P;B	0.42296	0.775;0.297	B;B	0.41412	0.356;0.129	T	0.17806	-1.0357	10	0.33141	T	0.24	.	5.0949	0.14727	0.0:0.1766:0.1525:0.6709	.	112;239	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	I	239;112	ENSP00000311837:L239I;ENSP00000385020:L112I	ENSP00000311837:L239I	L	+	1	2	SNTG2	1194912	1.000000	0.71417	0.007000	0.13788	0.746000	0.42486	0.700000	0.25601	-0.189000	0.10482	0.372000	0.22366	TTA	SNTG2	-	NULL	ENSG00000172554		0.527	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	-	0	38	0	T	NM_018968		1204912	1	tier1	-	no_errors	ENST00000308624	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	A	A	1204912	T	A	1204912	3	1	101	1	0	0	0	0	1	0	0	0	14920	1490	52	5	749	5	SNTG2	2	1204912	Missense_Mutation	SNP	T	TCGA-LN-A49N-01A-11D-A247-09		1204912	241994461	10	28596											
FBXO11	80204	genome.wustl.edu	37	chr2	48040404	48040405	+	Frame_Shift_Ins	INS	-	-	TC																															taaatatacagatgccaccaINStctcttccatcatggatttt																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:48040404_48040405insTC	ENST00000403359.3	-	18	2267_2268	c.2195_2196insGA	c.(2194-2196)gatfs	p.D732fs	FBXO11_ENST00000434523.2_Frame_Shift_Ins_p.D156fs|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.D648fs|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.D648fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	732					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGCCACCATCTCTTCCATC	0.332			"Mis, F, D"		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)																																								SO:0001589	frameshift_variant	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2194_2195dupGA	2.37:g.48040407_48040408dupTC	ENSP00000384823:p.Asp732fs		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.D732fs	ENST00000403359.3	37	c.2196_2195	CCDS54357.1	2																																																																																			FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	ENSG00000138081		0.332	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3		0	29	0	-	NM_012167, NM_018693, NM_025133		48040405	-1	tier1		no_errors	ENST00000403359	ensembl	human	known	74_37	frame_shift_ins	13.33	26	4	INS	1.000:1.000	TC	TC	48040405	-	TC	48040404	7	5	101	1	0	1	1	0	0	0	0	0	5749	214	8	0	697	0	FBXO11	2	48040404	Frame_Shift_Ins	INS	-	TCGA-LN-A49N-01A-11D-A247-09	46835492	48040404	195158969	11	28597											
SCN1A	6323	genome.wustl.edu	37	chr2	166872187	166872187	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttcttctacaggtgcGccgatgtccacagtgctacc	6	11	11	13	2	2	0	0	0	2	0	3	1	3	0	3	2	4	3	3	2	2	4	rs369594817		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:166872187G>T	ENST00000303395.4	-	17	3479	c.3480C>A	c.(3478-3480)ggC>ggA	p.G1160G	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1149G|SCN1A_ENST00000409050.1_Silent_p.G1132G|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000423058.2_Silent_p.G1160G|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1160				DIGA -> GHRR (in Ref. 2; AAK00217). {ECO:0000305}.	adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTACAGGTGCGCCGATGTCCA	0.393																																																	0													146	135	139					2																	166872187		2203	4299	6502	SO:0001819	synonymous_variant	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3480C>A	2.37:g.166872187G>T			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.G1160	ENST00000303395.4	37	c.3480	CCDS54413.1	2																																																																																			SCN1A	-	pfam_Na_trans_assoc	ENSG00000144285		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1		0	34	0	G	NM_006920		166872187	-1			no_errors	ENST00000303395	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.000	T	T	166872187	G	T	166872187	2	4	101	1	0	0	0	0	0	0	0	1	13959	1074	38	2		2	SCN1A	2	166872187	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	118831783	166872187	76327186	12	28598											
TTN	7273	genome.wustl.edu	37	chr2	179571596	179571596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtgcacttactttctacGactctgatactctgaggttc	9	14	8	10	1	3	2	0	2	3	0	4	4	3	2	0	1	4	2	0	1	4	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:179571596G>A	ENST00000591111.1	-	99	28400	c.28176C>T	c.(28174-28176)gtC>gtT	p.V9392V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.V8465V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.V9709V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	13490	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V8465V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTTTCTACGACTCTGATAC	0.353																																																	1	Substitution - coding silent(1)	lung(1)											58	53	54					2																	179571596		1854	4091	5945	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28176C>T	2.37:g.179571596G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V8465	ENST00000591111.1	37	c.25395		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.353	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	32	0	G	NM_133378		179571596	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.000	A	A	179571596	G	A	179571596	2	1	101	1	0	0	0	0	0	0	0	1	16784	1045	37	1		1	TTN	2	179571596	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	12699409	179571596	63627777	13	28599											
SLC4A3	6508	genome.wustl.edu	37	chr2	220500481	220500481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtatttggggggcttgtgCgggatgtgaggcgccggtac	4	10	20	7	4	0	1	0	1	0	0	0	2	0	2	1	7	2	3	1	7	2	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr2:220500481C>T	ENST00000358055.3	+	14	2571	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R714W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R687W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R687W|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R714W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	687					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGCTTGTGCGGGATGTGAG	0.622																																																	0													33	34	33					2																	220500481		2203	4299	6502	SO:0001583	missense	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2059C>T	2.37:g.220500481C>T	ENSP00000350756:p.Arg687Trp		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.R714W	ENST00000358055.3	37	c.2140	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.137374	0.94517	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.141952	0.48286	D	0.000185	D	0.90861	0.7129	M	0.88031	2.925	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.67900	0.925;0.954;0.924	D	0.92969	0.6396	10	0.87932	D	0	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	391;687;714	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	687;687;714;714;687	ENSP00000350756:R687W;ENSP00000362865:R687W;ENSP00000273063:R714W;ENSP00000362867:R714W;ENSP00000314006:R687W	ENSP00000273063:R714W	R	+	1	2	SLC4A3	220208725	1.000000	0.71417	0.912000	0.35992	0.967000	0.64934	7.769000	0.85360	2.264000	0.75181	0.643000	0.83706	CGG	SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0	34	0	C	NM_005070		220500481	1			no_errors	ENST00000273063	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	220500481	C	T	220500481	3	4	101	1	0	0	0	0	1	0	0	0	14700	759	27	1	2190	1	SLC4A3	2	220500481	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	40928885	220500481	22698892	14	28600											
ATG7	10533	genome.wustl.edu	37	chr3	11372893	11372893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaattttttggtcctagcagCccacagatggtatttacaag	11	13	9	8	0	0	1	0	0	0	1	1	2	1	1	2	2	3	2	2	2	5	7			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:11372893C>A	ENST00000354449.3	+	8	783	c.758C>A	c.(757-759)gCc>gAc	p.A253D	ATG7_ENST00000354956.5_Missense_Mutation_p.A253D|ATG7_ENST00000446450.2_Missense_Mutation_p.A214D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	253					adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GTCCTAGCAGCCCACAGATGG	0.398																																																	0													318	304	309					3																	11372893		2203	4300	6503	SO:0001583	missense	0			AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"Ubiquitin-like modifier activating enzymes"	16935	protein-coding gene	gene with protein product	"ubiquitin-activating enzyme E1-like protein"	608760	"APG7 autophagy 7-like (S. cerevisiae)", "ATG7 autophagy related 7 homolog (S. cerevisiae)"	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740	ENST00000354449.3:c.758C>A	3.37:g.11372893C>A	ENSP00000346437:p.Ala253Asp		B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7	p.A253D	ENST00000354449.3	37	c.758	CCDS2605.1	3	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942729	0.92526	.	.	ENSG00000197548	ENST00000446450;ENST00000354956;ENST00000354449	T;T;T	0.42513	0.97;0.97;0.97	5.27	5.27	0.74061	.	0.066786	0.64402	D	0.000016	T	0.64416	0.2596	M	0.85462	2.755	0.80722	D	1	D;D;P	0.61697	0.99;0.99;0.954	P;P;P	0.56823	0.747;0.807;0.646	T	0.67503	-0.5654	10	0.40728	T	0.16	-18.5128	18.5143	0.90930	0.0:1.0:0.0:0.0	.	214;253;253	E9PB95;O95352-2;O95352	.;.;ATG7_HUMAN	D	214;253;253	ENSP00000412580:A214D;ENSP00000347042:A253D;ENSP00000346437:A253D	ENSP00000346437:A253D	A	+	2	0	ATG7	11347893	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.467000	0.73547	2.475000	0.83589	0.591000	0.81541	GCC	ATG7	-	tigrfam_Atg7	ENSG00000197548		0.398	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG7	HGNC	protein_coding	OTTHUMT00000251951.3	-	0	77	0	C	NM_006395		11372893	1	tier1	-	no_errors	ENST00000354449	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	A	A	11372893	C	A	11372893	3	1	101	1	0	0	0	0	1	0	0	0	1102	739	26	3	784	3	ATG7	3	11372893	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		11372893	186649537	15	28601											
SATB1	6304	genome.wustl.edu	37	chr3	18436270	18436270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtttggaagaggtgtcCggacagagggctggctgcca	8	7	18	8	1	0	2	0	0	0	2	1	4	1	4	2	6	1	4	2	6	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:18436270C>T	ENST00000338745.6	-	7	2624	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	SATB1_ENST00000454909.2_Missense_Mutation_p.R297Q|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000475083.1_5'Flank|SATB1_ENST00000417717.2_Missense_Mutation_p.R297Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	297					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAGAGGTGTCCGGACAGAGGG	0.582																																																	0													108	97	101					3																	18436270		2203	4300	6503	SO:0001583	missense	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"Homeoboxes / CUT class"	10541	protein-coding gene	gene with protein product		602075	"special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.890G>A	3.37:g.18436270C>T	ENSP00000341024:p.Arg297Gln		B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R297Q	ENST00000338745.6	37	c.890	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795518	0.70452	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.81996	-1.56;-1.56;-1.56	5.75	5.75	0.90469	.	0.199756	0.43747	D	0.000533	T	0.64571	0.2610	N	0.12569	0.235	0.80722	D	1	P;B	0.41159	0.74;0.043	B;B	0.28385	0.089;0.004	T	0.69723	-0.5068	10	0.05833	T	0.94	-19.3412	19.9522	0.97203	0.0:1.0:0.0:0.0	.	297;297	Q01826-2;Q01826	.;SATB1_HUMAN	Q	297	ENSP00000341024:R297Q;ENSP00000399708:R297Q;ENSP00000399518:R297Q	ENSP00000341024:R297Q	R	-	2	0	SATB1	18411274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.856000	0.69518	2.725000	0.93324	0.655000	0.94253	CGG	SATB1	-	NULL	ENSG00000182568		0.582	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	-	0	81	0	C	NM_001131010		18436270	-1	tier1	-	no_errors	ENST00000417717	ensembl	human	known	74_37	missense	22.92	37	11	SNP	1.000	T	T	18436270	C	T	18436270	3	4	101	1	0	0	0	0	1	0	0	0	13898	652	23	1	1421	1	SATB1	3	18436270	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	7063377	18436270	179586160	16	28602											
TGFBR2	7048	genome.wustl.edu	37	chr3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatgacaacatcatcttctCagaaggtgagttttcttctc	11	14	6	10	0	5	3	2	2	4	1	7	3	5	3	0	1	1	1	0	1	3	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:30691947C>G	ENST00000295754.5	+	3	831	c.449C>G	c.(448-450)tCa>tGa	p.S150*	TGFBR2_ENST00000359013.4_Nonsense_Mutation_p.S175*	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	150					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATCATCTTCTCAGAAGGTGAG	0.433																																																	0													109	100	103					3																	30691947		2203	4300	6503	SO:0001587	stop_gained	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.449C>G	3.37:g.30691947C>G	ENSP00000295754:p.Ser150*		B4DTV5|Q15580|Q6DKT6|Q99474	Nonsense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.S175*	ENST00000295754.5	37	c.524	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.506241	0.98841	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	.	.	.	5.97	5.09	0.68999	.	0.571104	0.19372	N	0.115863	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	10.1189	0.42607	0.1376:0.7943:0.0:0.0681	.	.	.	.	X	150;175;16;16	.	ENSP00000295754:S150X	S	+	2	0	TGFBR2	30666951	0.931000	0.31567	0.854000	0.33618	0.992000	0.81027	3.594000	0.54008	1.511000	0.48818	0.655000	0.94253	TCA	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto	ENSG00000163513		0.433	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	40	0	C			30691947	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	nonsense	18.52	22	5	SNP	0.931	G	G	30691947	C	G	30691947	4	3	101	1	0	0	0	0	0	1	0	0	15869	838	29	5	538	5	TGFBR2	3	30691947	Nonsense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	12255677	30691947	167330483	17	28603											
BBX	56987	genome.wustl.edu	37	chr3	107492014	107492014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtcttcggaatctgaCattgagagcgtcatatatac	12	11	10	8	2	3	2	1	2	2	1	4	4	3	3	0	2	2	1	0	2	4	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:107492014C>T	ENST00000325805.8	+	11	1733	c.1446C>T	c.(1444-1446)gaC>gaT	p.D482D	BBX_ENST00000406780.1_Silent_p.D482D|BBX_ENST00000402543.1_Silent_p.D482D|BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Silent_p.D482D			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	482	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGGAATCTGACATTGAGAGCG	0.433																																																	0													73	77	75					3																	107492014		2203	4300	6503	SO:0001819	synonymous_variant	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"x 001 protein"					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1446C>T	3.37:g.107492014C>T			A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.D482	ENST00000325805.8	37	c.1446	CCDS46881.1	3																																																																																			BBX	-	NULL	ENSG00000114439		0.433	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1		0	25	0	C	NM_020235		107492014	1			no_errors	ENST00000325805	ensembl	human	known	74_37	silent	7.41	25	2	SNP	1.000	T	T	107492014	C	T	107492014	2	4	101	1	0	0	0	0	0	0	0	1	1344	477	17	3		3	BBX	3	107492014	Silent	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	76800067	107492014	90530416	18	28604											
ACAD11	84129	genome.wustl.edu	37	chr3	132297707	132297707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttcatgggaacaagaatCatgctgtgctgtttgtgtct	8	15	12	6	0	3	1	2	0	1	1	3	2	3	2	0	1	3	4	0	1	3	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:132297707C>T	ENST00000264990.6	-	15	2678	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	ACAD11_ENST00000545291.1_Missense_Mutation_p.M94I|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	569					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GAACAAGAATCATGCTGTGCT	0.333																																																	0													146	147	146					3																	132297707		2203	4300	6503	SO:0001583	missense	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1707G>A	3.37:g.132297707C>T	ENSP00000264990:p.Met569Ile		Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.M569I	ENST00000264990.6	37	c.1707	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337325	0.81911	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.98876	-5.2;-5.2	5.56	3.78	0.43462	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	.	.	.	.	D	0.98988	0.9655	M	0.86953	2.85	0.80722	D	1	D	0.60575	0.988	D	0.68192	0.956	D	0.99032	1.0821	9	0.54805	T	0.06	.	11.4269	0.50015	0.0:0.8508:0.0:0.1492	.	569	Q709F0	ACD11_HUMAN	I	569;94	ENSP00000264990:M569I;ENSP00000446263:M94I	ENSP00000264990:M569I	M	-	3	0	ACAD11	133780397	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.174000	0.58256	0.830000	0.34757	0.591000	0.81541	ATG	ACAD11	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000240303		0.333	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	-	0	47	0	C	NM_032169		132297707	-1	tier1	-	no_errors	ENST00000264990	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	T	T	132297707	C	T	132297707	3	4	101	1	0	0	0	0	1	0	0	0	109	826	29	3	659	3	ACAD11	3	132297707	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	24805693	132297707	65724723	19	28605											
MRAS	22808	genome.wustl.edu	37	chr3	138116171	138116171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcatcccaccccagttctgGacacagctgggcaggaggaa	10	6	11	14	0	2	0	1	0	1	0	3	3	3	3	3	4	1	3	3	4	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:138116171G>A	ENST00000289104.4	+	3	846	c.199G>A	c.(199-201)Gac>Aac	p.D67N	MRAS_ENST00000464896.1_5'UTR|MRAS_ENST00000474559.1_Missense_Mutation_p.D67N|MRAS_ENST00000423968.2_Missense_Mutation_p.D67N	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	67					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCCAGTTCTGGACACAGCTGG	0.607																																																	0													63	49	54					3																	138116171		2203	4300	6503	SO:0001583	missense	0			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.199G>A	3.37:g.138116171G>A	ENSP00000289104:p.Asp67Asn		B4DIK0|Q86WX8	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D67N	ENST00000289104.4	37	c.199	CCDS3100.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.224779	0.95173	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000474559	D;D;D	0.93763	-3.28;-3.28;-3.28	5.25	5.25	0.73442	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98435	0.9479	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99659	1.0993	10	0.87932	D	0	.	16.3372	0.83068	0.0:0.0:1.0:0.0	.	67	O14807	RASM_HUMAN	N	67	ENSP00000289104:D67N;ENSP00000389682:D67N;ENSP00000418356:D67N	ENSP00000289104:D67N	D	+	1	0	MRAS	139598861	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	9.860000	0.99555	2.451000	0.82905	0.561000	0.74099	GAC	MRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000158186		0.607	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAS	HGNC	protein_coding	OTTHUMT00000357990.1	-	0	34	0	G			138116171	1	tier1	-	no_errors	ENST00000289104	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	A	A	138116171	G	A	138116171	3	1	101	1	0	0	0	0	1	0	0	0	9793	1174	41	3	205	3	MRAS	3	138116171	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	5818464	138116171	59906259	20	28606											
COPB2	9276	genome.wustl.edu	37	chr3	139077077	139077077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgtgtgggaggccacaaTaaccggagtaggagaagcag	12	5	17	7	1	0	1	0	0	0	1	0	4	0	3	2	5	2	3	2	5	4	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:139077077T>C	ENST00000333188.5	-	21	2771	c.2590A>G	c.(2590-2592)Att>Gtt	p.I864V	COPB2_ENST00000507777.1_Missense_Mutation_p.I835V	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	864					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GAGGCCACAATAACCGGAGTA	0.443																																																	0													132	110	117					3																	139077077		2203	4300	6503	SO:0001583	missense	0			BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"WD repeat domain containing"	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2590A>G	3.37:g.139077077T>C	ENSP00000329419:p.Ile864Val		B4DZI8	Missense_Mutation	SNP	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I864V	ENST00000333188.5	37	c.2590	CCDS3108.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.078|4.078	0.012397|0.012397	0.07912|0.07912	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000333188;ENST00000507777|ENST00000503326	T;T|.	0.61859|.	0.07;0.16|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.862523|.	0.10614|.	N|.	0.654161|.	T|T	0.35885|0.35885	0.0947|0.0947	N|N	0.17082|0.17082	0.46|0.46	0.31710|0.31710	N|N	0.639634|0.639634	B|.	0.13594|.	0.008|.	B|.	0.12837|.	0.008|.	T|T	0.41538|0.41538	-0.9503|-0.9503	10|5	0.23302|.	T|.	0.38|.	-11.8238|-11.8238	11.1314|11.1314	0.48349|0.48349	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	864|.	P35606|.	COPB2_HUMAN|.	V|C	864;835|77	ENSP00000329419:I864V;ENSP00000422295:I835V|.	ENSP00000329419:I864V|.	I|Y	-|-	1|2	0|0	COPB2|COPB2	140559767|140559767	0.711000|0.711000	0.27906|0.27906	0.269000|0.269000	0.24586|0.24586	0.934000|0.934000	0.57294|0.57294	3.314000|3.314000	0.51943|0.51943	2.128000|2.128000	0.65567|0.65567	0.528000|0.528000	0.53228|0.53228	ATT|TAT	COPB2	-	pirsf_COPB2	ENSG00000184432		0.443	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	HGNC	protein_coding	OTTHUMT00000358495.2	-	0	33	0	T	NM_004766		139077077	-1	tier1	-	no_errors	ENST00000333188	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.734	C	C	139077077	T	C	139077077	3	2	101	1	0	0	0	0	1	0	0	0	3736	1406	49	4	138	4	COPB2	3	139077077	Missense_Mutation	SNP	T	TCGA-LN-A49N-01A-11D-A247-09	960906	139077077	58945353	21	28607											
CHRD	8646	genome.wustl.edu	37	chr3	184102443	184102443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcgggggcacgtggCtgccctgccctactgtgggc	4	8	16	13	2	0	1	0	0	0	1	1	1	0	1	2	4	4	3	2	4	1	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:184102443C>A	ENST00000204604.1	+	13	1805	c.1559C>A	c.(1558-1560)gCt>gAt	p.A520D	CHRD_ENST00000545352.1_Missense_Mutation_p.A150D|CHRD_ENST00000348986.3_Missense_Mutation_p.A480D|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.A520D	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	520	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGCACGTGGCTGCCCTGCCC	0.607																																																	0													54	48	50					3																	184102443		2203	4300	6503	SO:0001583	missense	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1559C>A	3.37:g.184102443C>A	ENSP00000204604:p.Ala520Asp		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.A520D	ENST00000204604.1	37	c.1559	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630452	0.28978	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.44482	2.74;2.52;2.51;0.92	5.23	4.35	0.52113	CHRD (2);	0.725328	0.13745	N	0.365642	T	0.30634	0.0771	N	0.22421	0.69	0.23611	N	0.9973	P;P;B;P	0.37688	0.605;0.546;0.213;0.601	B;B;B;B	0.39771	0.309;0.075;0.148;0.175	T	0.10154	-1.0642	10	0.22109	T	0.4	-0.0794	10.6818	0.45819	0.0:0.8397:0.0:0.1603	.	150;480;520;520	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	D	520;520;480;150;233	ENSP00000204604:A520D;ENSP00000408972:A520D;ENSP00000334036:A480D;ENSP00000442948:A150D	ENSP00000204604:A520D	A	+	2	0	CHRD	185585137	0.990000	0.36364	0.984000	0.44739	0.940000	0.58332	1.474000	0.35398	1.530000	0.49136	0.655000	0.94253	GCT	CHRD	-	smart_CHRD,pirsf_Chordin,pfscan_CHRD	ENSG00000090539		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0	20	0	C	NM_003741		184102443	1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.823	A	A	184102443	C	A	184102443	3	1	101	1	0	0	0	0	1	0	0	0	3379	797	28	3	1609	3	CHRD	3	184102443	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	45025366	184102443	13919987	22	28608											
LIPH	200879	genome.wustl.edu	37	chr3	185252682	185252682	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttcatgtcttcaacagaGagcaaaccctttactaagtc	13	11	6	11	1	3	1	2	0	1	1	4	2	3	1	1	0	4	2	1	0	4	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr3:185252682G>C	ENST00000296252.4	-	2	429	c.288C>G	c.(286-288)ctC>ctG	p.L96L	LIPH_ENST00000424591.2_Silent_p.L96L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	96					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTCAACAGAGAGCAAACCCT	0.438																																																	0													129	122	125					3																	185252682		2203	4300	6503	SO:0001819	synonymous_variant	0			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.288C>G	3.37:g.185252682G>C			A2IBA7|Q8TEC7	Silent	SNP	pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.L96	ENST00000296252.4	37	c.288	CCDS3272.1	3																																																																																			LIPH	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000163898		0.438	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPH	HGNC	protein_coding	OTTHUMT00000345153.1	-	0	41	0	G			185252682	-1	tier1	-	no_errors	ENST00000296252	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.059	C	C	185252682	G	C	185252682	2	2	101	1	0	0	0	0	0	0	0	1	8854	929	33	5		5	LIPH	3	185252682	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	1150239	185252682	12769748	23	28609											
FGFR3	2261	genome.wustl.edu	37	chr4	1807139	1807139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtggtcatggcggaGgccatcggcattgacaagga	9	6	17	9	2	1	1	1	1	0	0	2	3	1	3	2	8	0	1	2	8	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:1807139G>T	ENST00000260795.2	+	10	1572	c.1470G>T	c.(1468-1470)gaG>gaT	p.E490D	FGFR3_ENST00000340107.4_Missense_Mutation_p.E492D|FGFR3_ENST00000440486.2_Missense_Mutation_p.E490D|FGFR3_ENST00000481110.2_Missense_Mutation_p.E491D|FGFR3_ENST00000412135.2_Missense_Mutation_p.E378D|FGFR3_ENST00000352904.1_Missense_Mutation_p.E378D			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TCATGGCGGAGGCCATCGGCA	0.667		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"L, E"	0													26	28	27					4																	1807139		2199	4299	6498	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3690	protein-coding gene	gene with protein product		134934	"achondroplasia, thanatophoric dwarfism"	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.1470G>T	4.37:g.1807139G>T	ENSP00000260795:p.Glu490Asp		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E492D	ENST00000260795.2	37	c.1476	CCDS3353.1	4	.	.	.	.	.	.	.	.	.	.	g	15.08	2.726646	0.48833	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904	D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	3.79	1.99	0.26369	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.110516	0.64402	D	0.000011	D	0.84005	0.5377	L	0.47016	1.485	0.54753	D	0.999985	B;B;B;B	0.19583	0.001;0.002;0.027;0.037	B;B;B;B	0.20577	0.006;0.002;0.03;0.019	T	0.77683	-0.2496	10	0.49607	T	0.09	.	4.3153	0.10990	0.5519:0.0:0.4481:0.0	.	492;378;490;491	P22607-2;P22607-3;P22607;F8W9L4	.;.;FGFR3_HUMAN;.	D	491;492;490;378;490;378	ENSP00000420533:E491D;ENSP00000339824:E492D;ENSP00000414914:E490D;ENSP00000412903:E378D;ENSP00000260795:E490D;ENSP00000231803:E378D	ENSP00000260795:E490D	E	+	3	2	FGFR3	1776937	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	0.780000	0.26760	0.920000	0.36970	0.448000	0.29417	GAG	FGFR3	-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000068078		0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	HGNC	protein_coding	OTTHUMT00000241632.2		0	34	0	G	NM_000142		1807139	1			no_errors	ENST00000340107	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	1807139	G	T	1807139	3	4	101	1	0	0	0	0	1	0	0	0	5889	991	35	3	1663	3	FGFR3	4	1807139	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09		1807139	189347137	24	28610											
SEC24B	10427	genome.wustl.edu	37	chr4	110427592	110427592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttactcaggagaggaatAttttacctatgactcctgtt	11	14	7	9	0	1	2	1	1	0	1	2	4	2	3	3	2	2	1	3	2	5	6			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:110427592A>G	ENST00000265175.5	+	7	1652	c.1597A>G	c.(1597-1599)Att>Gtt	p.I533V	SEC24B_ENST00000399100.2_Missense_Mutation_p.I498V|SEC24B_ENST00000504968.2_Missense_Mutation_p.I563V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	533					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGAGAGGAATATTTTACCTAT	0.403																																																	0													154	148	150					4																	110427592		1866	4093	5959	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"SEC24 (S. cerevisiae) related gene family, member B", "SEC24 family, member B (S. cerevisiae)"			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1597A>G	4.37:g.110427592A>G	ENSP00000265175:p.Ile533Val		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.I533V	ENST00000265175.5	37	c.1597	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	11.66	1.705180	0.30232	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.22743	1.94;1.94;1.94	5.67	-2.45	0.06481	.	0.402953	0.27668	N	0.018353	T	0.09423	0.0232	N	0.25485	0.75	0.44579	D	0.99754	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.001;0.0;0.002;0.003;0.001	T	0.41431	-0.9509	10	0.06757	T	0.87	-8.057	7.5014	0.27520	0.4982:0.1187:0.3831:0.0	.	447;132;563;498;533	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	563;498;533	ENSP00000428564:I563V;ENSP00000382051:I498V;ENSP00000265175:I533V	ENSP00000265175:I533V	I	+	1	0	SEC24B	110647041	0.846000	0.29590	0.755000	0.31263	0.969000	0.65631	0.108000	0.15396	-0.687000	0.05162	-0.376000	0.06991	ATT	SEC24B	-	NULL	ENSG00000138802		0.403	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0	23	0	A			110427592	1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.991	G	G	110427592	A	G	110427592	3	3	101	1	0	0	0	0	1	0	0	0	14040	449	16	4	1623	4	SEC24B	4	110427592	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	108620453	110427592	80726684	25	28611											
ETFDH	2110	genome.wustl.edu	37	chr4	159624578	159624579	+	Frame_Shift_Ins	INS	-	-	T																															atctttgtttcctcagtctaINStaccaaaactcacctttcct																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:159624578_159624579insT	ENST00000511912.1	+	10	1452_1453	c.1120_1121insT	c.(1120-1122)atafs	p.I374fs	ETFDH_ENST00000307738.5_Frame_Shift_Ins_p.I327fs|U3_ENST00000607547.1_RNA	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	374					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TCCTCAGTCTATACCAAAACTC	0.356																																																	0																																										SO:0001589	frameshift_variant	0			S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.1121dupT	4.37:g.159624579_159624579dupT	ENSP00000426638:p.Ile374fs		B4E3R9|J3KND9|Q7Z347	Frame_Shift_Ins	INS	pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2	p.P375fs	ENST00000511912.1	37	c.1120_1121	CCDS3800.1	4																																																																																			ETFDH	-	NULL	ENSG00000171503		0.356	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFDH	HGNC	protein_coding	OTTHUMT00000365718.2		0	67	0	-			159624579	1	tier1		no_errors	ENST00000511912	ensembl	human	known	74_37	frame_shift_ins	19.61	41	10	INS	1.000:1.000	T	T	159624579	-	T	159624578	7	5	101	1	0	1	1	0	0	0	0	0	5287	449	16	0	1158	0	ETFDH	4	159624578	Frame_Shift_Ins	INS	-	TCGA-LN-A49N-01A-11D-A247-09	49196986	159624578	31529698	26	28612											
DDX60	55601	genome.wustl.edu	37	chr4	169138093	169138093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactttgtttttagactttGtttaacttttcccaaaaagt	11	19	5	6	0	0	2	0	0	0	2	1	2	1	2	1	0	1	2	1	0	4	9			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:169138093G>C	ENST00000393743.3	-	38	5421	c.5130C>G	c.(5128-5130)aaC>aaG	p.N1710K		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1710					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTTAGACTTTGTTTAACTTTT	0.348																																																	0													118	115	116					4																	169138093		2203	4300	6503	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.5130C>G	4.37:g.169138093G>C	ENSP00000377344:p.Asn1710Lys		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N1710K	ENST00000393743.3	37	c.5130	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.364557	0.01235	.	.	ENSG00000137628	ENST00000393743	T	0.16457	2.34	5.26	-10.5	0.00291	.	1.812950	0.02754	N	0.117768	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17930	-1.0353	10	0.11485	T	0.65	.	3.9682	0.09441	0.1337:0.2807:0.0964:0.4892	.	1710	Q8IY21	DDX60_HUMAN	K	1710	ENSP00000377344:N1710K	ENSP00000377344:N1710K	N	-	3	2	DDX60	169374668	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.562000	0.00061	-3.812000	0.00104	-0.310000	0.09108	AAC	DDX60	-	NULL	ENSG00000137628		0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	-	0	74	0	G	NM_017631		169138093	-1	tier1	-	no_errors	ENST00000393743	ensembl	human	known	74_37	missense	14.29	66	11	SNP	0.000	C	C	169138093	G	C	169138093	3	2	101	1	0	0	0	0	1	0	0	0	4387	1368	48	5	12	5	DDX60	4	169138093	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	9513515	169138093	22016183	27	28613											
FAM149A	25854	genome.wustl.edu	37	chr4	187078796	187078796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgttccacacgctcacgccGatggagccagtggccccccg	6	6	11	18	5	1	0	1	0	0	0	3	2	2	1	6	2	1	2	6	2	0	1	rs369514269		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr4:187078796G>A	ENST00000356371.5	+	8	1525	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	FAM149A_ENST00000514153.1_Missense_Mutation_p.D218N|FAM149A_ENST00000227065.4_Missense_Mutation_p.D218N|FAM149A_ENST00000503432.1_Missense_Mutation_p.D218N|FAM149A_ENST00000502970.1_Missense_Mutation_p.D218N|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000389354.5_Missense_Mutation_p.D218N			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	509										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGCTCACGCCGATGGAGCCAG	0.567																																																	0								G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	65	71	69		652,652	3.6	0	4		69	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM149A	NM_001006655.2,NM_015398.2	23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	218/483,218/483	187078796	1,13005	2203	4300	6503	SO:0001583	missense	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1525G>A	4.37:g.187078796G>A	ENSP00000348732:p.Asp509Asn		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.D509N	ENST00000356371.5	37	c.1525		4	.	.	.	.	.	.	.	.	.	.	G	13.53	2.266062	0.40095	0.0	1.16E-4	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.12361	2.73;2.69;2.73;2.73;2.73;2.73	5.6	3.61	0.41365	.	0.452613	0.24029	N	0.042210	T	0.15998	0.0385	L	0.55481	1.735	0.09310	N	1	P;P;D	0.63046	0.681;0.553;0.992	B;B;P	0.46479	0.123;0.084;0.518	T	0.10800	-1.0614	10	0.72032	D	0.01	-12.0356	8.0435	0.30536	0.0954:0.1662:0.7385:0.0	.	509;509;218	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	N	218;509;218;218;218;218	ENSP00000426835:D218N;ENSP00000348732:D509N;ENSP00000227065:D218N;ENSP00000427155:D218N;ENSP00000424380:D218N;ENSP00000374005:D218N	ENSP00000227065:D218N	D	+	1	0	FAM149A	187315790	0.433000	0.25562	0.026000	0.17262	0.008000	0.06430	3.264000	0.51553	2.672000	0.90937	0.549000	0.68633	GAT	FAM149A	-	NULL	ENSG00000109794		0.567	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding		-	0	41	0	G	NM_001006655		187078796	1	tier1	-	no_errors	ENST00000356371	ensembl	human	known	74_37	missense	40.00	21	14	SNP	0.006	A	A	187078796	G	A	187078796	3	1	101	1	0	0	0	0	1	0	0	0	5474	1058	37	1	670	1	FAM149A	4	187078796	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	17940703	187078796	4075480	28	28614											
PCDHGA8	9708	genome.wustl.edu	37	chr5	140773296	140773296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaatatcaatagcaaaaAgtctagattatgaagaatgt	19	10	9	3	0	2	3	1	1	1	2	2	4	2	4	0	1	1	1	0	1	10	4	rs189824439		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr5:140773296A>G	ENST00000398604.2	+	1	916	c.916A>G	c.(916-918)Agt>Ggt	p.S306G	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	306	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAGCAAAAAGTCTAGATTA	0.368													.|||	1	0.000199681	0	0	5008	,	,		20157	0		0.001	False		,,,				2504	0																0								A	,GLY/SER,,,,,,,,,,,GLY/SER	0,3640		0,0,1820	97	102	101		,916,,,,,,,,,,,916	-0.5	0	5		101	7,8155		0,7,4074	no	intron,missense,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	PCDHGB4,PCDHGA8,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_014004.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032088.1	,56,,,,,,,,,,,56	0,7,5894	GG,GA,AA		0.0858,0.0,0.0593	,,,,,,,,,,,,	,306/821,,,,,,,,,,,306/933	140773296	7,11795	1820	4081	5901	SO:0001583	missense	0			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"Cadherins / Protocadherins : Clustered"	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.916A>G	5.37:g.140773296A>G	ENSP00000381605:p.Ser306Gly		A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S306G	ENST00000398604.2	37	c.916	CCDS47291.1	5	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	4.752	0.139790	0.09083	0.0	8.58E-4	ENSG00000253767	ENST00000398604	T	0.52983	0.64	5.41	-0.459	0.12179	Cadherin (4);Cadherin-like (1);	0.285497	0.17833	U	0.160462	T	0.28863	0.0716	L	0.41492	1.28	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.003	T	0.09122	-1.0689	10	0.21540	T	0.41	.	2.5653	0.04782	0.6153:0.1245:0.1402:0.12	.	306;306	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	G	306	ENSP00000381605:S306G	ENSP00000381605:S306G	S	+	1	0	PCDHGA8	140753480	0.000000	0.05858	0.004000	0.12327	0.959000	0.62525	-0.889000	0.04144	0.364000	0.24374	0.533000	0.62120	AGT	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253767		0.368	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1		0	24	0	A	NM_032088		140773296	1			no_errors	ENST00000398604	ensembl	human	known	74_37	missense	25.00	6	2	SNP	0.000	G	G	140773296	A	G	140773296	3	3	101	1	0	0	0	0	1	0	0	0	11599	72	3	4	918	4	PCDHGA8	5	140773296	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09		140773296	40141964	29	28615											
C5orf40	408263	genome.wustl.edu	37	chr5	156770149	156770149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggacacaccagaactggagGcagatgaaggccaagacggc	14	2	14	11	2	0	4	0	1	0	3	0	6	0	6	2	5	1	1	2	5	3	0			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr5:156770149G>A	ENST00000312349.4	-	2	583	c.396C>T	c.(394-396)tgC>tgT	p.C132C	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	132						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						AGAACTGGAGGCAGATGAAGG	0.617											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													62	61	61					5																	156770149		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022570	CCDS4337.1	5q33.3	2013-02-11	2011-01-25	2011-01-25	ENSG00000172568	ENSG00000172568		"Fibronectin type III domain containing"	33547	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 40"	C5orf40			Standard	NM_001001343		Approved	MGC27121	uc003lwu.2	Q8TBE3	OTTHUMG00000130248	ENST00000312349.4:c.396C>T	5.37:g.156770149G>A		1781	A8K0Y6	Silent	SNP	superfamily_Fibronectin_type3	p.C132	ENST00000312349.4	37	c.396	CCDS4337.1	5																																																																																			FNDC9	-	NULL	ENSG00000172568		0.617	FNDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC9	HGNC	protein_coding	OTTHUMT00000252573.2	-	0	43	0	G	NM_001001343		156770149	-1	tier1	-	no_errors	ENST00000312349	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.990	A	A	156770149	G	A	156770149	2	1	101	1	0	0	0	0	0	0	0	1	2306	1195	42	3		3	C5orf40	5	156770149	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	15996853	156770149	24145111	30	28616											
DNAH8	1769	genome.wustl.edu	37	chr6	38874095	38874095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaagttgctggtgctgatgGaaaaggcatcactttcatct	11	12	10	8	0	3	1	2	1	1	0	3	2	3	2	0	3	2	4	0	3	3	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr6:38874095G>C	ENST00000359357.3	+	61	8863	c.8609G>C	c.(8608-8610)gGa>gCa	p.G2870A	DNAH8_ENST00000449981.2_Missense_Mutation_p.G3087A|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2834A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2870	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTGCTGATGGAAAAGGCATC	0.333																																																	0													57	56	56					6																	38874095		2203	4300	6503	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"Axonemal dyneins"	2952	protein-coding gene	gene with protein product		603337	"dynein, axonemal, heavy polypeptide 8"			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.8609G>C	6.37:g.38874095G>C	ENSP00000352312:p.Gly2870Ala		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G2870A	ENST00000359357.3	37	c.8609		6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.015759	0.93404	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.52295	0.67;0.67;0.67	5.72	5.72	0.89469	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76099	-0.3083	10	0.54805	T	0.06	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	2870	Q96JB1	DYH8_HUMAN	A	3075;3075;2870;2834	ENSP00000333363:G3075A;ENSP00000352312:G2870A;ENSP00000402294:G2834A	ENSP00000333363:G3075A	G	+	2	0	DNAH8	38982073	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.901000	0.87382	2.691000	0.91804	0.655000	0.94253	GGA	DNAH8	-	superfamily_P-loop_NTPase	ENSG00000124721		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0	35	0	G	NM_001206927		38874095	1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	C	C	38874095	G	C	38874095	3	2	101	1	0	0	0	0	1	0	0	0	4621	1174	41	5	8843	5	DNAH8	6	38874095	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09		38874095	132240972	31	28617											
STXBP5	134957	genome.wustl.edu	37	chr6	147632620	147632620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatatgctgtggttgttCttctagaaaaggatttagta	12	15	9	5	0	2	1	0	0	2	1	2	2	2	2	1	2	2	4	1	2	7	8			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr6:147632620C>A	ENST00000321680.6	+	11	1102	c.1102C>A	c.(1102-1104)Ctt>Att	p.L368I	STXBP5_ENST00000367481.3_Missense_Mutation_p.L368I|STXBP5_ENST00000179882.6_Missense_Mutation_p.L39I|STXBP5_ENST00000367480.3_Missense_Mutation_p.L368I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	368					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGTGGTTGTTCTTCTAGAAAA	0.323																																																	0													141	138	139					6																	147632620		2203	4298	6501	SO:0001583	missense	0			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"WD repeat domain containing"	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1102C>A	6.37:g.147632620C>A	ENSP00000321826:p.Leu368Ile		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.L368I	ENST00000321680.6	37	c.1102	CCDS47499.1	6	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695544	0.88830	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.29917	2.74;2.74;1.59;1.55	5.64	5.64	0.86602	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88704	2.975	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.87578	0.915;0.998;0.982	T	0.66999	-0.5781	10	0.87932	D	0	.	19.6979	0.96034	0.0:1.0:0.0:0.0	.	368;368;39	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	I	368;368;368;39	ENSP00000356451:L368I;ENSP00000321826:L368I;ENSP00000356450:L368I;ENSP00000179882:L39I	ENSP00000179882:L39I	L	+	1	0	STXBP5	147674313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.005000	0.70716	2.660000	0.90430	0.561000	0.74099	CTT	STXBP5	-	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant	ENSG00000164506		0.323	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	-	0	37	0	C			147632620	1	tier1	-	no_errors	ENST00000321680	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	A	A	147632620	C	A	147632620	3	1	101	1	0	0	0	0	1	0	0	0	15403	913	32	3	1144	3	STXBP5	6	147632620	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	108758525	147632620	23482447	32	28618											
THSD7A	221981	genome.wustl.edu	37	chr7	11486945	11486945	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcaattgacagtcatcCtggcaggggatctggcaggc	8	9	14	10	0	3	1	2	1	1	0	4	2	4	2	1	6	0	2	1	6	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:11486945C>T	ENST00000423059.4	-	12	2963	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	904					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACAGTCATCCTGGCAGGGGA	0.522										HNSCC(18;0.044)																																							0													61	58	59					7																	11486945		1915	4137	6052	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2712G>A	7.37:g.11486945C>T				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.Q904	ENST00000423059.4	37	c.2712	CCDS47543.1	7																																																																																			THSD7A	-	superfamily_Thrombospondin_1_rpt	ENSG00000005108		0.522	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	-	0	39	0	C	XM_928187.2		11486945	-1	tier1	-	no_errors	ENST00000423059	ensembl	human	known	74_37	silent	28.57	35	14	SNP	1.000	T	T	11486945	C	T	11486945	2	4	101	1	0	0	0	0	0	0	0	1	15926	680	24	3		3	THSD7A	7	11486945	Silent	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		11486945	147651718	33	28619											
HOXA3	3200	genome.wustl.edu	37	chr7	27148113	27148113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttagcatgcccttgccCttctgatcctttttgtactt	5	17	7	12	1	1	1	0	1	1	0	2	2	2	1	3	0	4	3	3	0	2	7			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:27148113C>T	ENST00000396352.4	-	3	952	c.753G>A	c.(751-753)aaG>aaA	p.K251K	HOXA3_ENST00000317201.2_Silent_p.K251K|HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	251					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TGCCCTTGCCCTTCTGATCCT	0.597																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												0													159	142	148					7																	27148113		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"Homeoboxes / ANTP class : HOXL subclass"	5104	protein-coding gene	gene with protein product		142954	"homeo box A3"	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.753G>A	7.37:g.27148113C>T			A4D181	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.K251	ENST00000396352.4	37	c.753	CCDS5404.1	7																																																																																			HOXA3	-	superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000105997		0.597	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	-	0	53	0	C			27148113	-1	tier1	-	no_errors	ENST00000317201	ensembl	human	known	74_37	silent	38.10	39	24	SNP	1.000	T	T	27148113	C	T	27148113	2	4	101	1	0	0	0	0	0	0	0	1	7320	680	24	3		3	HOXA3	7	27148113	Silent	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	15661168	27148113	131990550	34	28620											
GRM8	2918	genome.wustl.edu	37	chr7	126173450	126173450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcagaagggctgcataGctgaaacacatgccaagtcc	12	8	11	10	0	1	2	1	1	0	1	2	2	2	2	2	2	4	3	2	2	4	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:126173450G>T	ENST00000339582.2	-	9	2794	c.1986C>A	c.(1984-1986)agC>agA	p.S662R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S662R|GRM8_ENST00000444921.2_Missense_Mutation_p.S662R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	662					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.S662S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGGCTGCATAGCTGAAACACA	0.448										HNSCC(24;0.065)																																							1	Substitution - coding silent(1)	lung(1)											94	89	90					7																	126173450		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1986C>A	7.37:g.126173450G>T	ENSP00000344173:p.Ser662Arg		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.S662R	ENST00000339582.2	37	c.1986	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123754	0.56613	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88586	-2.4;-2.4;-2.4	5.75	1.94	0.25998	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93038	0.7784	M	0.81341	2.54	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.968	D	0.91721	0.5389	10	0.87932	D	0	.	8.9958	0.36052	0.3536:0.0:0.6464:0.0	.	662;662	O00222-2;O00222	.;GRM8_HUMAN	R	662	ENSP00000344173:S662R;ENSP00000409790:S662R;ENSP00000351142:S662R	ENSP00000344173:S662R	S	-	3	2	GRM8	125960686	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.928000	0.28831	0.377000	0.24735	0.655000	0.94253	AGC	GRM8	-	pfam_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C	ENSG00000179603		0.448	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0	49	0	G			126173450	-1			no_errors	ENST00000339582	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T	T	126173450	G	T	126173450	3	4	101	1	0	0	0	0	1	0	0	0	6830	962	34	3	802	3	GRM8	7	126173450	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	99025337	126173450	32965213	35	28621											
ABCB8	11194	genome.wustl.edu	37	chr7	150725613	150725613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcagcatgctggtgcAtttatttcgggtcgggattc	5	13	13	10	4	1	0	1	0	0	0	4	1	1	1	1	3	3	3	1	3	1	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr7:150725613A>G	ENST00000297504.6	+	1	77	c.11A>G	c.(10-12)cAt>cGt	p.H4R	ABCB8_ENST00000498578.1_Missense_Mutation_p.H4R|ABCB8_ENST00000356058.4_Missense_Mutation_p.H4R|RP11-148K1.10_ENST00000479085.1_RNA|ABCB8_ENST00000358849.4_Missense_Mutation_p.H4R|ABCB8_ENST00000477719.1_Missense_Mutation_p.H4R|ABCB8_ENST00000477092.1_Missense_Mutation_p.H4R|ABCB8_ENST00000542328.1_Silent_p.A20A			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	4					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	ATGCTGGTGCATTTATTTCGG	0.587											OREG0018445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69	61	63					7																	150725613		2203	4300	6503	SO:0001583	missense	0			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"ATP binding cassette transporters / subfamily B"	49	protein-coding gene	gene with protein product	"mitochondrial ABC protein"	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.11A>G	7.37:g.150725613A>G	ENSP00000297504:p.His4Arg	1734	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.H4R	ENST00000297504.6	37	c.11		7	.	.	.	.	.	.	.	.	.	.	A	18.01	3.527830	0.64860	.	.	ENSG00000197150	ENST00000461373;ENST00000358849;ENST00000360651;ENST00000297504;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;D;D;D	0.96491	-2.67;-2.64;-2.83;-4.03;-2.45;-2.54	4.99	4.99	0.66335	.	0.185393	0.36932	N	0.002330	D	0.94095	0.8107	L	0.29908	0.895	0.32801	D	0.500122	P;P;P;D;P	0.59357	0.842;0.915;0.902;0.985;0.93	B;B;B;P;P	0.49799	0.236;0.366;0.342;0.622;0.554	D	0.95571	0.8638	10	0.87932	D	0	-7.5947	11.0155	0.47687	1.0:0.0:0.0:0.0	.	4;4;4;4;4	A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;ABCB8_HUMAN;.;.;.	R	4	ENSP00000351717:H4R;ENSP00000297504:H4R;ENSP00000418271:H4R;ENSP00000348353:H4R;ENSP00000419891:H4R;ENSP00000419558:H4R	ENSP00000297504:H4R	H	+	2	0	ABCB8	150356546	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.689000	0.46993	2.091000	0.63221	0.533000	0.62120	CAT	ABCB8	-	NULL	ENSG00000197150		0.587	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	-	0	71	0	A	NM_007188		150725613	1	tier1	-	no_errors	ENST00000297504	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	G	G	150725613	A	G	150725613	3	3	101	1	0	0	0	0	1	0	0	0	47	217	8	4	13	4	ABCB8	7	150725613	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	24552163	150725613	8413050	36	28622											
CSMD1	64478	genome.wustl.edu	37	chr8	3200963	3200963	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaggaactgtcttttcCatcatatacctgatgaaaat	13	13	7	8	1	2	3	1	3	1	0	3	4	3	4	2	1	2	0	2	1	5	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:3200963C>A	ENST00000520002.1	-	24	4042	c.3487G>T	c.(3487-3489)Gga>Tga	p.G1163*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G1162*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G1163*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G1163*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G1162*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.G1162*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G1163*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1163	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGTCTTTTCCATCATATACC	0.418																																																	0													109	106	107					8																	3200963		1906	4121	6027	SO:0001587	stop_gained	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3487G>T	8.37:g.3200963C>A	ENSP00000430733:p.Gly1163*		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G1163*	ENST00000520002.1	37	c.3487		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.113525|11.113525	0.99518|0.99518	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.80502	.|0.4635	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77523	.|-0.2556	.|3	0.87932|.	D|.	0|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1163;1163;1025;1162;1162;1162|642	.|.	ENSP00000320445:G1025X|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	3188370|3188370	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.121000|0.121000	0.20230|0.20230	7.569000|7.569000	0.82380|0.82380	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGA|TGG	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.418	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0	65	0	C	NM_033225		3200963	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	nonsense	27.50	29	11	SNP	1.000	A	A	3200963	C	A	3200963	4	1	101	1	0	0	0	0	0	1	0	0	3953	603	21	3	7402	3	CSMD1	8	3200963	Nonsense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		3200963	143163059	37	28623											
EPB49	2039	genome.wustl.edu	37	chr8	21938645	21938645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatccctatgaaatgctaGtggtgaccaacaaggggcga	12	9	11	9	1	1	2	0	2	1	0	2	3	2	2	2	3	2	1	2	3	6	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:21938645G>T	ENST00000523266.1	+	15	1507	c.1045G>T	c.(1045-1047)Gtg>Ttg	p.V349L	DMTN_ENST00000443491.2_Missense_Mutation_p.V302L|DMTN_ENST00000519907.1_Missense_Mutation_p.V327L|DMTN_ENST00000432128.1_Missense_Mutation_p.V349L|DMTN_ENST00000415253.1_Missense_Mutation_p.V327L|DMTN_ENST00000517600.1_Missense_Mutation_p.V309L|DMTN_ENST00000265800.5_Missense_Mutation_p.V349L|DMTN_ENST00000523782.2_Missense_Mutation_p.V302L|DMTN_ENST00000381470.3_Missense_Mutation_p.V327L|DMTN_ENST00000358242.3_Missense_Mutation_p.V349L	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	349	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										TGAAATGCTAGTGGTGACCAA	0.592																																																	0													57	62	60					8																	21938645		2203	4300	6503	SO:0001583	missense	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"erythrocyte membrane protein band 4.9 (dematin)"	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.1045G>T	8.37:g.21938645G>T	ENSP00000427866:p.Val349Leu		A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.V349L	ENST00000523266.1	37	c.1045	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	G	9.473	1.096096	0.20552	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.43294	1.57;1.54;1.59;0.95;1.54;1.54;1.57;1.54;1.57	4.82	3.94	0.45596	Villin headpiece (3);	.	.	.	.	T	0.16041	0.0386	N	0.04724	-0.175	0.32387	N	0.553823	P;B;B;B;B;B	0.39480	0.675;0.172;0.172;0.286;0.15;0.123	B;B;B;B;B;B	0.32393	0.145;0.037;0.037;0.051;0.027;0.038	T	0.14420	-1.0473	9	0.06891	T	0.86	.	9.0694	0.36482	0.1037:0.0:0.8963:0.0	.	288;309;349;302;302;327	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	L	327;349;302;309;309;349;288;349;327;349;327	ENSP00000370879:V327L;ENSP00000416111:V349L;ENSP00000397904:V302L;ENSP00000430618:V309L;ENSP00000265800:V349L;ENSP00000350977:V349L;ENSP00000401291:V327L;ENSP00000427866:V349L;ENSP00000429377:V327L	ENSP00000265800:V349L	V	+	1	0	EPB49	21994591	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	0.847000	0.27696	1.038000	0.40049	0.455000	0.32223	GTG	DMTN	-	superfamily_Villin_headpiece,pfscan_Villin_headpiece	ENSG00000158856		0.592	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DMTN	HGNC	protein_coding	OTTHUMT00000375178.1	-	0	32	0	G	NM_001978		21938645	1	tier1	-	no_errors	ENST00000265800	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	T	T	21938645	G	T	21938645	3	4	101	1	0	0	0	0	1	0	0	0	5175	1029	36	3	1102	3	EPB49	8	21938645	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	18737682	21938645	124425377	38	28624											
ZFHX4	79776	genome.wustl.edu	37	chr8	77766126	77766126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaatgtggttttccccagGatctttgacttgattacgca	8	15	9	9	1	1	2	0	2	1	0	2	3	2	3	2	2	2	3	2	2	2	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:77766126G>T	ENST00000521891.2	+	10	7417	c.6969G>T	c.(6967-6969)agG>agT	p.R2323S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2278S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2297S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2278S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2278					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTTTCCCCAGGATCTTTGACT	0.398										HNSCC(33;0.089)																																							0													113	109	110					8																	77766126		1972	4165	6137	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6969G>T	8.37:g.77766126G>T	ENSP00000430497:p.Arg2323Ser		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R2323S	ENST00000521891.2	37	c.6969	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363127	0.41902	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	4.34	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.49305	U	0.000152	T	0.48241	0.1489	M	0.77103	2.36	0.48632	D	0.999689	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.40117	-0.9580	10	0.49607	T	0.09	.	5.0358	0.14434	0.2079:0.3548:0.4373:0.0	.	2278;2278;2323	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	S	2323;2307;2278;2278;2297	ENSP00000430497:R2323S;ENSP00000399605:R2278S;ENSP00000050961:R2278S;ENSP00000430848:R2297S	ENSP00000050961:R2278S	R	+	3	2	ZFHX4	77928681	0.953000	0.32496	1.000000	0.80357	0.999000	0.98932	0.080000	0.14802	0.524000	0.28502	0.650000	0.86243	AGG	ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000091656		0.398	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0	24	0	G	NM_024721		77766126	1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.997	T	T	77766126	G	T	77766126	3	4	101	1	0	0	0	0	1	0	0	0	17683	1165	41	3	7003	3	ZFHX4	8	77766126	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	55827481	77766126	68597896	39	28625											
MATN2	4147	genome.wustl.edu	37	chr8	99039880	99039880	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccgtggcccacatgaaaTacatgggaaagggctctatg	13	7	12	9	1	1	1	0	1	1	0	1	2	1	2	2	3	2	1	2	3	5	2	rs554199301		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr8:99039880T>C	ENST00000520016.1	+	13	2303	c.2179T>C	c.(2179-2181)Tac>Cac	p.Y727H	RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.Y727H|MATN2_ENST00000522025.2_Missense_Mutation_p.Y443H|MATN2_ENST00000254898.5_Missense_Mutation_p.Y727H|MATN2_ENST00000524308.1_Missense_Mutation_p.Y686H			O00339	MATN2_HUMAN	matrilin 2	727	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCACATGAAATACATGGGAAA	0.517																																																	0													54	54	54					8																	99039880		1866	4098	5964	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.2179T>C	8.37:g.99039880T>C	ENSP00000430487:p.Tyr727His		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.Y727H	ENST00000520016.1	37	c.2179	CCDS55264.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.429550|4.429550	0.83776|0.83776	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154;ENST00000517321|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	.|T;T;T;T;T	.|0.80909	.|-1.43;-1.43;-1.43;-1.43;-1.43	5.24|5.24	5.24|5.24	0.73138|0.73138	.|von Willebrand factor, type A (3);	.|0.000000	.|0.56097	.|D	.|0.000029	D|D	0.90403|0.90403	0.6996|0.6996	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;0.999	D|D	0.90536|0.90536	0.4499|0.4499	5|10	.|0.38643	.|T	.|0.18	-40.9105|-40.9105	15.4341|15.4341	0.75129|0.75129	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|727;727;727	.|E9PF03;O00339-2;O00339	.|.;.;MATN2_HUMAN	T|H	509;160|727;727;686;686;443;727	.|ENSP00000429977:Y727H;ENSP00000254898:Y727H;ENSP00000430221:Y686H;ENSP00000429010:Y443H;ENSP00000430487:Y727H	.|ENSP00000254898:Y727H	I|Y	+|+	2|1	0|0	MATN2|MATN2	99109056|99109056	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	7.997000|7.997000	0.88414|0.88414	2.104000|2.104000	0.64026|0.64026	0.454000|0.454000	0.30748|0.30748	ATA|TAC	MATN2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000132561		0.517	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	-	0	20	0	T			99039880	1	tier1	-	no_errors	ENST00000254898	ensembl	human	known	74_37	missense	28.57	35	14	SNP	1.000	C	C	99039880	T	C	99039880	3	2	101	1	0	0	0	0	1	0	0	0	9372	1406	49	4	2229	4	MATN2	8	99039880	Missense_Mutation	SNP	T	TCGA-LN-A49N-01A-11D-A247-09	21273754	99039880	47324142	40	28626											
BNC2	54796	genome.wustl.edu	37	chr9	16419544	16419544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatatcttcaccaaaaattCatcgcggaggtccttgctaa	13	12	6	10	2	3	0	2	0	1	0	5	1	4	1	2	2	1	1	2	2	5	6			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:16419544C>G	ENST00000380672.4	-	7	2800	c.2743G>C	c.(2743-2745)Gaa>Caa	p.E915Q	BNC2_ENST00000545497.1_Missense_Mutation_p.E820Q|BNC2_ENST00000380667.2_Missense_Mutation_p.E848Q	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ACCAAAAATTCATCGCGGAGG	0.552																																																	0													87	93	91					9																	16419544		2203	4300	6503	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2743G>C	9.37:g.16419544C>G	ENSP00000370047:p.Glu915Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E915Q	ENST00000380672.4	37	c.2743	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581496	0.46006	.	.	ENSG00000173068	ENST00000380672;ENST00000380667;ENST00000545497	T;T;T	0.34275	1.37;1.39;1.38	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.57536	1.79	0.80722	D	1	D;D;D	0.71674	0.996;0.993;0.998	D;D;D	0.75484	0.986;0.968;0.986	T	0.54043	-0.8352	10	0.41790	T	0.15	-13.8263	19.3932	0.94594	0.0:1.0:0.0:0.0	.	820;915;680	F5H586;Q6ZN30;D3DRJ1	.;BNC2_HUMAN;.	Q	915;848;820	ENSP00000370047:E915Q;ENSP00000370042:E848Q;ENSP00000444640:E820Q	ENSP00000370042:E848Q	E	-	1	0	BNC2	16409544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.586000	0.87340	0.591000	0.81541	GAA	BNC2	-	NULL	ENSG00000173068		0.552	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	-	0	36	0	C	NM_017637		16419544	-1	tier1	-	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	G	G	16419544	C	G	16419544	3	3	101	1	0	0	0	0	1	0	0	0	1477	835	29	5	560	5	BNC2	9	16419544	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		16419544	124793887	41	28627											
PSMB7	5695	genome.wustl.edu	37	chr9	127174691	127174691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgggaagacggccagtgGagagggagtggagctccagg	9	5	19	8	1	1	2	0	0	1	2	2	6	2	5	2	6	1	1	2	6	1	0			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:127174691G>T	ENST00000259457.3	-	4	348	c.335C>A	c.(334-336)tCc>tAc	p.S112Y	PSMB7_ENST00000498485.1_5'UTR|PSMB7_ENST00000536392.1_Missense_Mutation_p.S112Y	NM_002799.3	NP_002790.1	Q99436	PSB7_HUMAN	proteasome (prosome, macropain) subunit, beta type, 7	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						ACGGCCAGTGGAGAGGGAGTG	0.483																																																	0													155	158	157					9																	127174691		2203	4300	6503	SO:0001583	missense	0			AJ420455	CCDS6855.1	9q34.11-q34.12	2008-02-05			ENSG00000136930	ENSG00000136930		"Proteasome (prosome, macropain) subunits"	9544	protein-coding gene	gene with protein product		604030				8811196	Standard	NM_002799		Approved	Z	uc004boj.4	Q99436	OTTHUMG00000021042	ENST00000259457.3:c.335C>A	9.37:g.127174691G>T	ENSP00000259457:p.Ser112Tyr		B4E0P1|Q5TBG6|Q96AG8|Q9BWA7	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB	p.S112Y	ENST00000259457.3	37	c.335	CCDS6855.1	9	.	.	.	.	.	.	.	.	.	.	G	17.45	3.391683	0.62066	.	.	ENSG00000136930	ENST00000259457;ENST00000536392;ENST00000441097	T;T;T	0.23950	1.88;1.88;1.88	4.88	4.88	0.63580	.	0.099394	0.64402	D	0.000001	T	0.28732	0.0712	L	0.46741	1.465	0.58432	D	0.999997	B;B	0.22480	0.019;0.07	B;B	0.29440	0.102;0.016	T	0.05257	-1.0896	10	0.45353	T	0.12	-7.6744	17.5569	0.87894	0.0:0.0:1.0:0.0	.	112;112	B4E0P1;Q99436	.;PSB7_HUMAN	Y	112	ENSP00000259457:S112Y;ENSP00000440247:S112Y;ENSP00000393157:S112Y	ENSP00000259457:S112Y	S	-	2	0	PSMB7	126214512	1.000000	0.71417	0.956000	0.39512	0.995000	0.86356	7.688000	0.84153	2.688000	0.91661	0.655000	0.94253	TCC	PSMB7	-	pfam_Proteasome_sua/b	ENSG00000136930		0.483	PSMB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB7	HGNC	protein_coding	OTTHUMT00000055525.1	-	0	45	0	G	NM_002799		127174691	-1	tier1	-	no_errors	ENST00000259457	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	127174691	G	T	127174691	3	4	101	1	0	0	0	0	1	0	0	0	12724	1174	41	3	518	3	PSMB7	9	127174691	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	110755147	127174691	14038740	42	28628											
NAIF1	203245	genome.wustl.edu	37	chr9	130826154	130826154	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccacgccctcctccagCgtgtgataggtggtctctgt	5	11	10	15	2	1	1	0	1	1	0	5	1	4	1	5	2	1	0	5	2	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:130826154C>T	ENST00000373078.4	-	2	756	c.537G>A	c.(535-537)acG>acA	p.T179T	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	179					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCCTCCAGCGTGTGATAGG	0.602																																																	0													45	49	48					9																	130826154		2203	4300	6503	SO:0001819	synonymous_variant	0			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"nuclear apoptosis-inducing factor 1"	610673	"chromosome 9 open reading frame 90"	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.537G>A	9.37:g.130826154C>T			B3KV81|Q8WU12	Silent	SNP	NULL	p.T179	ENST00000373078.4	37	c.537	CCDS6889.1	9																																																																																			NAIF1	-	NULL	ENSG00000171169		0.602	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	-	0	25	0	C	NM_197956		130826154	-1	tier1	-	no_errors	ENST00000373078	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.005	T	T	130826154	C	T	130826154	2	4	101	1	0	0	0	0	0	0	0	1	10184	755	27	1		1	NAIF1	9	130826154	Silent	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	3651463	130826154	10387277	43	28629											
NOTCH1	4851	genome.wustl.edu	37	chr9	139402553	139402553	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgcccgcgtccacacAgagccctccatgctggcaca	7	7	10	17	3	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	0	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr9:139402553A>T	ENST00000277541.6	-	21	3439	c.3364T>A	c.(3364-3366)Tgt>Agt	p.C1122S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1122	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCGTCCACACAGAGCCCTCCA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													26	31	30					9																	139402553		2053	4174	6227	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3364T>A	9.37:g.139402553A>T	ENSP00000277541:p.Cys1122Ser		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1122S	ENST00000277541.6	37	c.3364	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365016	0.61513	.	.	ENSG00000148400	ENST00000277541	D	0.99992	-12.4	5.01	5.01	0.66863	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99994	0.9999	H	0.99074	4.42	0.80722	D	1	D	0.60575	0.988	D	0.66847	0.947	D	0.99988	1.3617	10	0.72032	D	0.01	.	13.9019	0.63809	1.0:0.0:0.0:0.0	.	1122	P46531	NOTC1_HUMAN	S	1122	ENSP00000277541:C1122S	ENSP00000277541:C1122S	C	-	1	0	NOTCH1	138522374	1.000000	0.71417	0.161000	0.22692	0.004000	0.04260	9.220000	0.95180	1.881000	0.54492	0.533000	0.62120	TGT	NOTCH1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	52	0	A	NM_017617		139402553	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	68.63	16	35	SNP	1.000	T	T	139402553	A	T	139402553	3	4	101	1	0	0	0	0	1	0	0	0	10586	188	7	5	4359	5	NOTCH1	9	139402553	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	8576399	139402553	1810878	44	28630											
IDE	3416	genome.wustl.edu	37	chr10	94291633	94291633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcacctctctgtctttgCaactttcatcgaacaagggg	9	13	7	12	1	4	0	2	0	2	0	6	1	4	0	1	2	3	1	1	2	3	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:94291633C>A	ENST00000265986.6	-	4	589	c.533G>T	c.(532-534)tGc>tTc	p.C178F		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	178					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"	TCTGTCTTTGCAACTTTCATC	0.373																																																	0													76	70	72					10																	94291633		2203	4300	6503	SO:0001583	missense	0			M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"insulysin"	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.533G>T	10.37:g.94291633C>A	ENSP00000265986:p.Cys178Phe		B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.C178F	ENST00000265986.6	37	c.533	CCDS7421.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746717	0.89663	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.16897	2.31;2.31	5.62	5.62	0.85841	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	L	0.54965	1.715	0.80722	D	1	D	0.56521	0.976	D	0.67231	0.95	T	0.04607	-1.0939	10	0.62326	D	0.03	-10.4375	19.6584	0.95853	0.0:1.0:0.0:0.0	.	178	P14735	IDE_HUMAN	F	178;164	ENSP00000265986:C178F;ENSP00000408850:C164F	ENSP00000265986:C178F	C	-	2	0	IDE	94281613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.747000	0.85070	2.646000	0.89796	0.655000	0.94253	TGC	IDE	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000119912		0.373	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDE	HGNC	protein_coding	OTTHUMT00000049393.1	-	0	28	0	C	NM_004969		94291633	-1	tier1	-	no_errors	ENST00000265986	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A	A	94291633	C	A	94291633	3	1	101	1	0	0	0	0	1	0	0	0	7520	710	25	3	2614	3	IDE	10	94291633	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		94291633	41243114	45	28631											
BLNK	29760	genome.wustl.edu	37	chr10	97967644	97967644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactgtcttcagtggtgtcGttggttttttcctggggaat	4	19	12	6	1	2	0	1	0	1	0	4	1	3	1	1	4	1	2	1	4	2	6			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:97967644G>A	ENST00000224337.5	-	10	899	c.758C>T	c.(757-759)aCg>aTg	p.T253M	BLNK_ENST00000427367.2_Missense_Mutation_p.T253M|BLNK_ENST00000413476.2_Missense_Mutation_p.T253M|BLNK_ENST00000371176.2_Missense_Mutation_p.T230M	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	253	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CAGTGGTGTCGTTGGTTTTTT	0.313																																																	0													114	111	112					10																	97967644		2203	4300	6503	SO:0001583	missense	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"SH2 domain containing"	14211	protein-coding gene	gene with protein product	"B-cell adapter containing a SH2 domain protein", "B-cell activation", "Src homology [SH2] domain-containing leukocyte protein of 65 kD", "B cell adaptor containing SH2 domain"	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.758C>T	10.37:g.97967644G>A	ENSP00000224337:p.Thr253Met		O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.T253M	ENST00000224337.5	37	c.758	CCDS7446.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.462|3.462	-0.109837|-0.109837	0.06924|0.06924	.|.	.|.	ENSG00000095585|ENSG00000095585	ENST00000428924|ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.|.	.|.	.|.	5.53|5.53	0.232|0.232	0.15381|0.15381	.|.	.|0.760337	.|0.13373	.|N	.|0.392764	.|T	.|0.12433	.|0.0302	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P;P;P;B;P;P	.|0.43094	.|0.663;0.799;0.663;0.401;0.533;0.533	.|B;B;B;B;B;B	.|0.32289	.|0.143;0.143;0.143;0.022;0.068;0.068	.|T	.|0.14615	.|-1.0466	.|9	0.02654|0.39692	T|T	1|0.17	-6.0858|-6.0858	5.9857|5.9857	0.19432|0.19432	0.2438:0.0:0.6201:0.1361|0.2438:0.0:0.6201:0.1361	.|.	.|230;253;230;148;230;253	.|Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.|.;.;.;.;.;BLNK_HUMAN	X|M	207|253;230;253;253;148	.|.	ENSP00000409992:R207X|ENSP00000224337:T253M	R|T	-|-	1|2	2|0	BLNK|BLNK	97957634|97957634	0.075000|0.075000	0.21258|0.21258	0.102000|0.102000	0.21198|0.21198	0.070000|0.070000	0.16714|0.16714	0.276000|0.276000	0.18716|0.18716	0.121000|0.121000	0.18284|0.18284	-1.053000|-1.053000	0.02334|0.02334	CGA|ACG	BLNK	-	NULL	ENSG00000095585		0.313	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0	35	0	G	NM_013314		97967644	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.045	A	A	97967644	G	A	97967644	3	1	101	1	0	0	0	0	1	0	0	0	1449	1145	40	1	644	1	BLNK	10	97967644	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	3676011	97967644	37567103	46	28632											
MKI67	4288	genome.wustl.edu	37	chr10	129908757	129908757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacatgtgcttgtcaactgCggttgctccttcactggggt	5	14	12	10	1	2	1	2	1	0	0	3	1	3	1	1	3	4	3	1	3	1	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:129908757C>T	ENST00000368654.3	-	12	2676	c.2301G>A	c.(2299-2301)ccG>ccA	p.P767P	MKI67_ENST00000368653.3_Silent_p.P407P|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	767					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTGTCAACTGCGGTTGCTCCT	0.403																																																	0													145	146	146					10																	129908757		2203	4300	6503	SO:0001819	synonymous_variant	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 105"	176741	"antigen identified by monoclonal antibody Ki-67"			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.2301G>A	10.37:g.129908757C>T			Q5VWH2	Silent	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.P767	ENST00000368654.3	37	c.2301	CCDS7659.1	10																																																																																			MKI67	-	NULL	ENSG00000148773		0.403	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0	25	0	C	NM_002417		129908757	-1			no_errors	ENST00000368654	ensembl	human	known	74_37	silent	7.69	24	2	SNP	0.000	T	T	129908757	C	T	129908757	2	4	101	1	0	0	0	0	0	0	0	1	9636	755	27	1		1	MKI67	10	129908757	Silent	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	31941113	129908757	5625990	47	28633											
C10orf93	54777	genome.wustl.edu	37	chr10	134755135	134755135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcacacatctgggccctgCacaggtgcgctcggcccaga	7	5	14	15	2	1	1	0	0	1	1	2	1	1	1	2	4	2	3	2	4	0	0			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr10:134755135C>A	ENST00000368586.5	-	3	366	c.266G>T	c.(265-267)tGc>tTc	p.C89F	TTC40_ENST00000368585.3_Missense_Mutation_p.C89F|RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368582.2_Missense_Mutation_p.C89F	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTGGGCCCTGCACAGGTGCGC	0.582																																																	0													74	70	71					10																	134755135		2203	4300	6503	SO:0001583	missense	0																														ENST00000368586.5:c.266G>T	10.37:g.134755135C>A	ENSP00000357575:p.Cys89Phe			Missense_Mutation	SNP	NULL	p.C89F	ENST00000368586.5	37	c.266	CCDS58101.1	10	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968266	0.74131	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.82433	-1.61;-1.61;-1.61	4.07	4.07	0.47477	.	0.303719	0.26069	N	0.026531	D	0.90693	0.7080	M	0.77103	2.36	0.44780	D	0.997781	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.982	D	0.92206	0.5772	10	0.87932	D	0	.	15.88	0.79197	0.0:1.0:0.0:0.0	.	89;89	Q5SR76-2;Q5SR76-1	.;.	F	89	ENSP00000357575:C89F;ENSP00000357571:C89F;ENSP00000357574:C89F	ENSP00000357571:C89F	C	-	2	0	C10orf93	134605125	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.432000	0.44784	2.201000	0.70794	0.555000	0.69702	TGC	TTC40	-	NULL	ENSG00000171811		0.582	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0	37	0	C			134755135	-1	tier1	-	no_errors	ENST00000368582	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	A	A	134755135	C	A	134755135	3	1	101	1	0	0	0	0	1	0	0	0	1630	710	25	3	979	3	C10orf93	10	134755135	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	4846378	134755135	779612	48	28634											
GYLTL1B	120071	genome.wustl.edu	37	chr11	45949867	45949867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccccgctatgatcctCgctttgtgggcttcggctgg	3	13	12	13	3	0	1	0	1	0	0	4	1	2	1	3	3	0	4	3	3	1	3	rs150478912		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:45949867C>A	ENST00000531526.1	+	13	2005	c.1894C>A	c.(1894-1896)Cgc>Agc	p.R632S	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R632S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R601S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R632S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R601S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	632					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTATGATCCTCGCTTTGTGGG	0.627																																																	0													159	156	157					11																	45949867		2203	4299	6502	SO:0001583	missense	0				CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"Glycosyltransferase family 8 domain containing"	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1894C>A	11.37:g.45949867C>A	ENSP00000432869:p.Arg632Ser		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.R632S	ENST00000531526.1	37	c.1894	CCDS31473.1	11	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541980	0.85917	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000325468;ENST00000536139	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.988	D;D;D	0.97110	1.0;0.996;0.925	T	0.68345	-0.5433	10	0.66056	D	0.02	-29.3598	14.9392	0.70980	0.2112:0.7888:0.0:0.0	.	601;601;632	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	S	601;632;632;632;601	ENSP00000431932:R601S;ENSP00000432869:R632S;ENSP00000385235:R632S;ENSP00000324570:R632S;ENSP00000445044:R601S	ENSP00000324570:R632S	R	+	1	0	GYLTL1B	45906443	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	2.266000	0.43320	2.610000	0.88304	0.561000	0.74099	CGC	GYLTL1B	-	NULL	ENSG00000165905		0.627	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GYLTL1B	HGNC	protein_coding	OTTHUMT00000392572.1		0	43	0	C	NM_152312		45949867	1			no_errors	ENST00000325468	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	45949867	C	A	45949867	3	1	101	1	0	0	0	0	1	0	0	0	6934	884	31	2	1940	2	GYLTL1B	11	45949867	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		45949867	89056649	49	28635											
LRRC32	2615	genome.wustl.edu	37	chr11	76370908	76370908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccagccagccattgcCgcagcagctgagtggattcc	7	7	13	14	1	0	1	0	1	0	0	1	2	1	2	5	2	6	4	5	2	0	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:76370908C>T	ENST00000407242.2	-	3	1971	c.1729G>A	c.(1729-1731)Ggc>Agc	p.G577S	LRRC32_ENST00000260061.5_Missense_Mutation_p.G577S|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.G577S	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	577	LRRCT.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGCCATTGCCGCAGCAGCTG	0.667																																																	0													28	29	29					11																	76370908		2199	4290	6489	SO:0001583	missense	0			Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"glycoprotein A repetitions predominant"	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1729G>A	11.37:g.76370908C>T	ENSP00000384126:p.Gly577Ser		Q86V06	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp	p.G577S	ENST00000407242.2	37	c.1729	CCDS8245.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587594	0.46110	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.34472	1.36;1.36;1.36	4.44	4.44	0.53790	.	0.440664	0.24599	N	0.037157	T	0.28962	0.0719	L	0.53249	1.67	0.37110	D	0.900294	P	0.49253	0.921	B	0.35859	0.212	T	0.36163	-0.9759	10	0.08179	T	0.78	.	17.244	0.87022	0.0:1.0:0.0:0.0	.	577	Q14392	LRC32_HUMAN	S	577	ENSP00000260061:G577S;ENSP00000384126:G577S;ENSP00000385766:G577S	ENSP00000260061:G577S	G	-	1	0	LRRC32	76048556	.	.	0.964000	0.40570	0.894000	0.52154	.	.	2.301000	0.77427	0.491000	0.48974	GGC	LRRC32	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000137507		0.667	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC32	HGNC	protein_coding	OTTHUMT00000257926.2	-	0	34	0	C	NM_005512		76370908	-1	tier1	-	no_errors	ENST00000260061	ensembl	human	known	74_37	missense	30.00	42	18	SNP	0.974	T	T	76370908	C	T	76370908	3	4	101	1	0	0	0	0	1	0	0	0	9022	652	23	1	263	1	LRRC32	11	76370908	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	30421041	76370908	58635608	50	28636											
ATM	472	genome.wustl.edu	37	chr11	108203581	108203581	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggcactttgtgatgcttaTattatattagcaaacttaga	13	15	8	5	0	0	2	0	1	0	1	0	3	0	2	0	1	3	3	0	1	7	7			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:108203581T>C	ENST00000452508.2	+	54	8070	c.7881T>C	c.(7879-7881)taT>taC	p.Y2627Y	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Silent_p.Y2627Y			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2627					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GTGATGCTTATATTATATTAG	0.363			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													82	81	81					11																	108203581		2201	4297	6498	SO:0001819	synonymous_variant	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7881T>C	11.37:g.108203581T>C			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Y2627	ENST00000452508.2	37	c.7881	CCDS31669.1	11																																																																																			ATM	-	superfamily_Kinase-like_dom,superfamily_ARM-type_fold	ENSG00000149311		0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	30	0	T	NM_000051		108203581	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.992	C	C	108203581	T	C	108203581	2	2	101	1	0	0	0	0	0	0	0	1	1110	1413	49	4		4	ATM	11	108203581	Silent	SNP	T	TCGA-LN-A49N-01A-11D-A247-09	31832673	108203581	26802935	51	28637											
OR10G4	390264	genome.wustl.edu	37	chr11	123886307	123886307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacgccagcctcgtgacagCattcatcctcacaggccttc	9	8	7	17	2	2	1	2	1	0	0	5	1	3	1	4	1	3	1	4	1	1	2	rs113664910|rs79057843|rs386758378	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr11:123886307C>T	ENST00000320891.4	+	1	26	c.26C>T	c.(25-27)gCa>gTa	p.A9V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A9V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTCGTGACAGCATTCATCCTC	0.537													N|||	1550	0.309505	0.2587	0.3357	5008	,	,		19587	0.2093		0.4334	False		,,,				2504	0.3354																1	Substitution - Missense(1)	stomach(1)						T	VAL/ALA	1313,3091		219,875,1108	147	104	118		26	-5.4	0	11	dbSNP_131	118	3678,4920		878,1922,1499	no	missense	OR10G4	NM_001004462.1	64	1097,2797,2607	TT,TC,CC		42.7774,29.8138,38.3864	benign	9/312	123886307	4991,8011	2202	4299	6501	SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"GPCR / Class A : Olfactory receptors"	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.26C>T	11.37:g.123886307C>T	ENSP00000325076:p.Ala9Val		Q6IEW0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A9V	ENST00000320891.4	37	c.26	CCDS31702.1	11	605	0.27701465201465203	95	0.19308943089430894	118	0.3259668508287293	127	0.22202797202797203	265	0.3496042216358839	c	9.683	1.149889	0.21371	0.298138	0.427774	ENSG00000254737	ENST00000320891	T	0.01099	5.34	3.49	-5.4	0.02656	.	1.466740	0.04179	N	0.326156	T	0.00012	0.0000	N	0.02842	-0.48	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.42849	-0.9427	9	0.66056	D	0.02	.	2.0899	0.03655	0.2112:0.362:0.0864:0.3405	.	9	Q8NGN3	O10G4_HUMAN	V	9	ENSP00000325076:A9V	ENSP00000325076:A9V	A	+	2	0	OR10G4	123391517	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.071000	0.01378	-2.100000	0.00848	-4.499000	0.00005	GCA	OR10G4	-	NULL	ENSG00000254737		0.537	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1		0	31	0	C	NM_001004462		123886307	1			no_errors	ENST00000320891	ensembl	human	known	74_37	missense	14.29	24	4	SNP	0.000	T	T	123886307	C	T	123886307	3	4	101	1	0	0	0	0	1	0	0	0	10940	710	25	3	28	3	OR10G4	11	123886307	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	15682726	123886307	11120209	52	28638											
LRP6	4040	genome.wustl.edu	37	chr12	12311822	12311822	+	Frame_Shift_Del	DEL	C	C	-																															cagggcatccacaaacaaaaCccccaactggcacagccaag																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:12311822delC	ENST00000261349.4	-	12	2808	c.2732delG	c.(2731-2733)ggtfs	p.G911fs	LRP6_ENST00000543091.1_Frame_Shift_Del_p.G911fs	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	911	EGF-like 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACAAACAAAACCCCCAACTGG	0.507																																																	0													122	110	114					12																	12311822		2203	4300	6503	SO:0001589	frameshift_variant	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"Low density lipoprotein receptors"	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.2732delG	12.37:g.12311822delC	ENSP00000261349:p.Gly911fs		Q17RZ2	Frame_Shift_Del	DEL	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G911fs	ENST00000261349.4	37	c.2732	CCDS8647.1	12																																																																																			LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_EG-like_dom	ENSG00000070018		0.507	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1		0	31	0	C			12311822	-1	tier1		no_errors	ENST00000261349	ensembl	human	known	74_37	frame_shift_del	24.44	34	11	DEL	1.000	-	-	12311822	C	-	12311822	7	5	101	1	0	1	0	1	0	0	0	0	8997	507	18	0	2157	0	LRP6	12	12311822	Frame_Shift_Del	DEL	C	TCGA-LN-A49N-01A-11D-A247-09		12311822	121540073	53	28639											
STRAP	11171	genome.wustl.edu	37	chr12	16043540	16043540	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgttttcaggatagtaatTatttgttaaccgggggacag	10	15	12	4	1	1	0	1	0	0	0	1	2	1	2	1	3	1	3	1	3	4	7			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:16043540T>G	ENST00000419869.2	+	4	653	c.340T>G	c.(340-342)Tat>Gat	p.Y114D	STRAP_ENST00000025399.6_Missense_Mutation_p.Y127D|STRAP_ENST00000538352.1_Missense_Mutation_p.Y20D	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	114					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				GGATAGTAATTATTTGTTAAC	0.294																																																	0													70	73	72					12																	16043540		2203	4299	6502	SO:0001583	missense	0			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"WD repeat domain containing"	30796	protein-coding gene	gene with protein product	"Unr-interacting protein"	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.340T>G	12.37:g.16043540T>G	ENSP00000392270:p.Tyr114Asp		B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y127D	ENST00000419869.2	37	c.379	CCDS8676.1	12	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801579	0.31869	.	.	ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869	T;T;T	0.62788	0.0;0.0;0.0	4.81	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.239195	0.45361	D	0.000376	T	0.63248	0.2495	M	0.82517	2.595	0.39544	D	0.968869	B;B	0.32573	0.253;0.376	B;B	0.33960	0.173;0.173	T	0.66048	-0.6020	10	0.37606	T	0.19	-2.3232	9.8821	0.41240	0.1522:0.0:0.0:0.8478	.	127;114	B4DNJ6;Q9Y3F4	.;STRAP_HUMAN	D	20;127;114	ENSP00000439761:Y20D;ENSP00000025399:Y127D;ENSP00000392270:Y114D	ENSP00000025399:Y127D	Y	+	1	0	STRAP	15934807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.122000	0.57910	2.028000	0.59812	0.477000	0.44152	TAT	STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000023734		0.294	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1	-	0	52	0	T	NM_007178		16043540	1	tier1	-	no_errors	ENST00000025399	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	G	G	16043540	T	G	16043540	3	3	101	1	0	0	0	0	1	0	0	0	15373	1754	61	4	354	4	STRAP	12	16043540	Missense_Mutation	SNP	T	TCGA-LN-A49N-01A-11D-A247-09	3731718	16043540	117808355	54	28640											
ANO6	196527	genome.wustl.edu	37	chr12	45695847	45695847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgatttgggatcactggaaAgtcagcatgattttcgaacc	11	11	10	9	2	2	1	2	1	0	0	3	5	2	3	2	2	2	1	2	2	2	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:45695847A>T	ENST00000320560.8	+	2	323	c.121A>T	c.(121-123)Agt>Tgt	p.S41C	ANO6_ENST00000426898.2_Intron|ANO6_ENST00000423947.3_Missense_Mutation_p.S62C|ANO6_ENST00000435642.1_Missense_Mutation_p.S41C|ANO6_ENST00000441606.2_Missense_Mutation_p.S23C|ANO6_ENST00000425752.2_Missense_Mutation_p.S41C	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	41					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATCACTGGAAAGTCAGCATGA	0.358																																																	0													168	166	166					12																	45695847		2203	4300	6503	SO:0001583	missense	0			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"Ion channels / Chloride channels : Calcium activated : Anoctamins"	25240	protein-coding gene	gene with protein product		608663	"transmembrane protein 16F"	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.121A>T	12.37:g.45695847A>T	ENSP00000320087:p.Ser41Cys		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	pfam_Anoctamin	p.S41C	ENST00000320560.8	37	c.121	CCDS31782.1	12	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429985	0.62844	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.71461	-0.57;-0.46;-0.57;-0.42;-0.43	4.83	0.0444	0.14225	.	1.119750	0.06628	N	0.758662	T	0.67401	0.2889	L	0.50333	1.59	0.09310	N	1	P;P;P;P	0.48640	0.507;0.598;0.889;0.913	B;B;B;P	0.46076	0.122;0.174;0.253;0.503	T	0.57837	-0.7742	10	0.66056	D	0.02	.	6.9028	0.24293	0.595:0.0:0.405:0.0	.	23;62;41;41	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	C	41;62;41;41;23	ENSP00000391417:S41C;ENSP00000409126:S62C;ENSP00000413840:S41C;ENSP00000320087:S41C;ENSP00000413137:S23C	ENSP00000320087:S41C	S	+	1	0	ANO6	43982114	0.016000	0.18221	0.010000	0.14722	0.973000	0.67179	0.337000	0.19841	0.098000	0.17522	0.523000	0.50628	AGT	ANO6	-	NULL	ENSG00000177119		0.358	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANO6	HGNC	protein_coding	OTTHUMT00000404822.1	-	0	63	0	A	XM_113743		45695847	1	tier1	-	no_errors	ENST00000425752	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.019	T	T	45695847	A	T	45695847	3	4	101	1	0	0	0	0	1	0	0	0	701	72	3	5	147	5	ANO6	12	45695847	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	29652307	45695847	88156048	55	28641											
DDX23	9416	genome.wustl.edu	37	chr12	49229911	49229911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagctgacctcacctgtcaaTtttgggaagtgtggtgatcc	8	13	11	9	0	2	2	2	2	0	0	3	3	3	3	3	2	1	1	3	2	3	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:49229911T>C	ENST00000308025.3	-	11	1454	c.1375A>G	c.(1375-1377)Att>Gtt	p.I459V	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	459	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CACCTGTCAATTTTGGGAAGT	0.483																																																	0													195	183	187					12																	49229911		2203	4300	6503	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1375A>G	12.37:g.49229911T>C	ENSP00000310723:p.Ile459Val		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.I459V	ENST00000308025.3	37	c.1375	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974772	0.53720	.	.	ENSG00000174243	ENST00000308025	T	0.14640	2.49	5.49	5.49	0.81192	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.113799	0.56097	D	0.000026	T	0.10165	0.0249	N	0.08118	0	0.58432	D	0.999998	B	0.32365	0.367	B	0.37550	0.253	T	0.28808	-1.0032	10	0.56958	D	0.05	-1.3081	14.5545	0.68091	0.0:0.0:0.0:1.0	.	459	Q9BUQ8	DDX23_HUMAN	V	459	ENSP00000310723:I459V	ENSP00000310723:I459V	I	-	1	0	DDX23	47516178	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.031000	0.70911	2.079000	0.62486	0.459000	0.35465	ATT	DDX23	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000174243		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2	-	0	35	0	T	NM_004818		49229911	-1	tier1	-	no_errors	ENST00000308025	ensembl	human	known	74_37	missense	40.00	12	8	SNP	1.000	C	C	49229911	T	C	49229911	3	2	101	1	0	0	0	0	1	0	0	0	4359	1493	52	4	1115	4	DDX23	12	49229911	Missense_Mutation	SNP	T	TCGA-LN-A49N-01A-11D-A247-09	3534064	49229911	84621984	56	28642											
TFCP2	7024	genome.wustl.edu	37	chr12	51489798	51489798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtccagaataaaacatGcttcttcctgaaagttctgt	11	15	7	8	0	2	2	0	1	2	1	4	2	4	2	2	0	2	2	2	0	4	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr12:51489798G>T	ENST00000257915.5	-	14	1903	c.1445C>A	c.(1444-1446)gCa>gAa	p.A482E	TFCP2_ENST00000548115.1_Missense_Mutation_p.A431E|TFCP2_ENST00000307660.4_Missense_Mutation_p.A431E|TFCP2_ENST00000549867.1_Missense_Mutation_p.A404E	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	482					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AATAAAACATGCTTCTTCCTG	0.323																																																	0													143	135	138					12																	51489798		2202	4298	6500	SO:0001583	missense	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1445C>A	12.37:g.51489798G>T	ENSP00000257915:p.Ala482Glu		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.A482E	ENST00000257915.5	37	c.1445	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622287	0.66787	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.42513	2.3;0.97;2.31;0.97	5.75	5.75	0.90469	.	0.265120	0.38326	N	0.001727	T	0.41858	0.1177	L	0.43152	1.355	0.37103	D	0.899987	B;B;B;B	0.22414	0.069;0.042;0.003;0.012	B;B;B;B	0.23419	0.034;0.046;0.007;0.025	T	0.42241	-0.9463	10	0.87932	D	0	-5.1721	19.0907	0.93225	0.0:0.0:1.0:0.0	.	431;404;482;482	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	E	482;431;404;431	ENSP00000257915:A482E;ENSP00000304411:A431E;ENSP00000449742:A404E;ENSP00000447991:A431E	ENSP00000257915:A482E	A	-	2	0	TFCP2	49776065	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.496000	0.60360	2.890000	0.99128	0.585000	0.79938	GCA	TFCP2	-	NULL	ENSG00000135457		0.323	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1		0	22	0	G	NM_005653		51489798	-1			no_errors	ENST00000257915	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	51489798	G	T	51489798	3	4	101	1	0	0	0	0	1	0	0	0	15842	1319	46	3	71	3	TFCP2	12	51489798	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	2259887	51489798	82362097	57	28643											
DHRS12	79758	genome.wustl.edu	37	chr13	52364150	52364150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcttgtacttacccaGagtattggcagcaaagtttt	12	14	7	8	0	1	1	0	0	1	1	1	1	1	1	1	1	4	5	1	1	5	8			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr13:52364150G>T	ENST00000444610.2	-	5	458	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000218981.1_Missense_Mutation_p.L100M|DHRS12_ENST00000280056.2_Missense_Mutation_p.L100M	NM_001270424.1	NP_001257353.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	149							oxidoreductase activity (GO:0016491)			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.81e-08)		TACTTACCCAGAGTATTGGCA	0.308																																																	0													77	78	77					13																	52364150		2203	4298	6501	SO:0001583	missense	0			AK023701	CCDS9430.1, CCDS31976.1, CCDS58292.1	13q14.3	2013-10-11			ENSG00000102796	ENSG00000102796		"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	25832	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 40C, member 1"					19027726	Standard	NM_001031719		Approved	FLJ13639, SDR40C1	uc001vfq.4	A0PJE2	OTTHUMG00000016952	ENST00000444610.2:c.445C>A	13.37:g.52364150G>T	ENSP00000411565:p.Leu149Met		Q96GB2|Q9H8H1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH	p.L149M	ENST00000444610.2	37	c.445	CCDS58292.1	13	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567726	0.45798	.	.	ENSG00000102796	ENST00000444610;ENST00000218981;ENST00000280056	T;T;T	0.25414	1.8;1.8;2.82	4.46	-0.513	0.11962	NAD(P)-binding domain (1);	0.197000	0.32473	N	0.006043	T	0.34135	0.0887	M	0.71296	2.17	0.09310	N	1	P;D;D	0.58620	0.851;0.983;0.976	P;P;P	0.61201	0.674;0.885;0.734	T	0.18116	-1.0347	10	0.37606	T	0.19	.	1.0569	0.01592	0.2566:0.287:0.3094:0.1471	.	100;100;149	A0PJE2-3;A0PJE2-2;A0PJE2	.;.;DHR12_HUMAN	M	149;100;100	ENSP00000411565:L149M;ENSP00000218981:L100M;ENSP00000280056:L100M	ENSP00000218981:L100M	L	-	1	2	DHRS12	51262151	0.186000	0.23225	0.000000	0.03702	0.575000	0.36095	0.411000	0.21115	-0.257000	0.09459	-0.903000	0.02851	CTG	DHRS12	-	pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR	ENSG00000102796		0.308	DHRS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS12	HGNC	protein_coding	OTTHUMT00000045036.3		0	43	0	G	NM_024705		52364150	-1			no_errors	ENST00000444610	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.015	T	T	52364150	G	T	52364150	3	4	101	1	0	0	0	0	1	0	0	0	4502	933	33	3	711	3	DHRS12	13	52364150	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09		52364150	62805728	58	28644											
OR4Q3	441669	genome.wustl.edu	37	chr14	20215877	20215877	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatctctttttcaggAtgcctggcccagatctactt	9	13	8	11	0	3	2	1	0	2	2	4	3	3	3	2	2	3	1	2	2	2	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:20215877A>G	ENST00000331723.1	+	1	291	c.291A>G	c.(289-291)ggA>ggG	p.G97G		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTTTCAGGATGCCTGGCCC	0.473																																																	0													60	62	61					14																	20215877		2203	4297	6500	SO:0001819	synonymous_variant	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.291A>G	14.37:g.20215877A>G			Q6IEX4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G97	ENST00000331723.1	37	c.291	CCDS32020.1	14																																																																																			OR4Q3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000182652		0.473	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	HGNC	protein_coding	OTTHUMT00000409818.2	-	0	149	0	A			20215877	1	tier1	-	no_errors	ENST00000331723	ensembl	human	known	74_37	silent	9.09	130	13	SNP	0.612	G	G	20215877	A	G	20215877	2	3	101	1	0	0	0	0	0	0	0	1	11120	320	12	4		4	OR4Q3	14	20215877	Silent	SNP	A	TCGA-LN-A49N-01A-11D-A247-09		20215877	87133663	59	28645											
ACTR10	55860	genome.wustl.edu	37	chr14	58678109	58678109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggatatagggaaagcctgGtgttacccatatcttttttg	9	15	11	6	0	1	0	0	0	1	0	1	2	1	2	2	3	2	1	2	3	5	7			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:58678109G>T	ENST00000254286.4	+	5	522	c.442G>T	c.(442-444)Gtg>Ttg	p.V148L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	148					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						GGAAAGCCTGGTGTTACCCAT	0.383																																																	0													178	178	178					14																	58678109		2203	4300	6503	SO:0001583	missense	0			AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.442G>T	14.37:g.58678109G>T	ENSP00000254286:p.Val148Leu		Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related	p.V148L	ENST00000254286.4	37	c.442	CCDS32090.1	14	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050947	0.55218	.	.	ENSG00000131966	ENST00000543474;ENST00000254286	D	0.96041	-3.89	5.92	5.02	0.67125	.	0.143838	0.45606	U	0.000346	D	0.93171	0.7825	L	0.52206	1.635	0.80722	D	1	P	0.36753	0.568	B	0.33568	0.166	D	0.92961	0.6389	10	0.87932	D	0	-9.743	15.7379	0.77859	0.0:0.1372:0.8628:0.0	.	148	Q9NZ32	ARP10_HUMAN	L	148	ENSP00000254286:V148L	ENSP00000254286:V148L	V	+	1	0	ACTR10	57747862	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.206000	0.95056	1.480000	0.48289	0.650000	0.86243	GTG	ACTR10	-	pfam_Actin-related,smart_Actin-related	ENSG00000131966		0.383	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ACTR10	HGNC	protein_coding	OTTHUMT00000411405.1	-	0	26	0	G			58678109	1	tier1	-	no_errors	ENST00000254286	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T	T	58678109	G	T	58678109	3	4	101	1	0	0	0	0	1	0	0	0	208	1261	44	3	460	3	ACTR10	14	58678109	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	38462232	58678109	48671431	60	28646											
CHGA	1113	genome.wustl.edu	37	chr14	93398974	93398974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagctgacggctgagaaGcggctggaggggcaggagga	11	3	21	6	2	0	2	0	2	0	1	0	7	0	6	0	8	2	4	0	8	2	0	rs200576557		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr14:93398974G>T	ENST00000216492.5	+	7	1348	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	CHGA_ENST00000334654.4_Missense_Mutation_p.K205N	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	356					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CGGCTGAGAAGCGGCTGGAGG	0.667																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													23	17	19					14																	93398974		2192	4296	6488	SO:0001583	missense	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"vasostatin", "pancreastatin", "parastatin"	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.1068G>T	14.37:g.93398974G>T	ENSP00000216492:p.Lys356Asn		B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.K356N	ENST00000216492.5	37	c.1068	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045609	0.55110	.	.	ENSG00000100604	ENST00000216492;ENST00000334654	T;T	0.01745	4.66;4.66	4.51	3.61	0.41365	.	0.187478	0.43579	D	0.000544	T	0.08268	0.0206	M	0.77103	2.36	0.43259	D	0.995197	D;D	0.89917	1.0;0.983	D;D	0.83275	0.996;0.942	T	0.00521	-1.1691	10	0.87932	D	0	-27.611	7.7059	0.28650	0.1885:0.0:0.8115:0.0	.	205;356	G5E968;P10645	.;CMGA_HUMAN	N	356;205	ENSP00000216492:K356N;ENSP00000334023:K205N	ENSP00000216492:K356N	K	+	3	2	CHGA	92468727	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	0.877000	0.28106	2.031000	0.59945	0.555000	0.69702	AAG	CHGA	-	pfam_Granin	ENSG00000100604		0.667	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	-	0	38	0	G	NM_001275		93398974	1	tier1	-	no_errors	ENST00000216492	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T	T	93398974	G	T	93398974	3	4	101	1	0	0	0	0	1	0	0	0	3345	962	34	3	1094	3	CHGA	14	93398974	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	34720865	93398974	13950566	61	28647											
RFX7	64864	genome.wustl.edu	37	chr15	56435084	56435085	+	Frame_Shift_Ins	INS	-	-	TG																															ttgtgcccgactagatgacaINStggcattctgatcactaata																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:56435084_56435085insTG	ENST00000423270.1	-	4	291_292	c.292_293insCA	c.(292-294)atgfs	p.M98fs	RFX7_ENST00000422057.1_Start_Codon_Ins|RFX7_ENST00000559447.2_Start_Codon_Ins|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.M98fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACTAGATGACATGGCATTCTGA	0.416																																																	0																																										SO:0001589	frameshift_variant	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"regulatory factor X domain containing 2"	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000423270.1:c.291_292dupCA	15.37:g.56435085_56435086dupTG	ENSP00000397644:p.Met98fs		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Ins	INS	pfam_DNA-bd_RFX	p.M98fs	ENST00000423270.1	37	c.293_292		15																																																																																			RFX7	-	NULL	ENSG00000181827		0.416	RFX7-203	KNOWN	basic|appris_principal	protein_coding	RFX7	HGNC	protein_coding			0	44	0	-	NM_022841		56435085	-1	tier1		no_errors	ENST00000423270	ensembl	human	known	74_37	frame_shift_ins	31.82	30	14	INS	1.000:1.000	TG	TG	56435085	-	TG	56435084	7	5	101	1	0	1	1	0	0	0	0	0	13313	217	8	0	4113	0	RFX7	15	56435084	Frame_Shift_Ins	INS	-	TCGA-LN-A49N-01A-11D-A247-09		56435084	46096308	62	28648											
PML	5371	genome.wustl.edu	37	chr15	74336717	74336717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctccatgcgccgccctAtcttggcctgctacaagctg	6	10	10	15	2	1	1	0	1	1	0	2	1	2	1	4	1	5	3	4	1	3	3	rs367820386		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:74336717A>G	ENST00000268058.3	+	9	2113	c.2017A>G	c.(2017-2019)Atc>Gtc	p.I673V	PML_ENST00000565898.1_Missense_Mutation_p.I625V	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	673					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCGCCCTATCTTGGCCTG	0.607			T	"RARA, PAX5"	"APL, ALL"																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0								A	VAL/ILE	1,4395	2.1+/-5.4	0,1,2197	54	55	55		2017	-2	0.8	15		55	0,8594		0,0,4297	no	missense	PML	NM_033238.2	29	0,1,6494	GG,GA,AA		0.0,0.0227,0.0077	benign	673/883	74336717	1,12989	2198	4297	6495	SO:0001583	missense	0			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2017A>G	15.37:g.74336717A>G	ENSP00000268058:p.Ile673Val		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.I673V	ENST00000268058.3	37	c.2017	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	A	11.51	1.659321	0.29515	2.27E-4	0.0	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.38560	1.13	5.18	-1.98	0.07480	.	0.415839	0.20463	N	0.091846	T	0.20129	0.0484	N	0.14661	0.345	0.80722	D	1	B;B	0.17465	0.022;0.006	B;B	0.14578	0.011;0.011	T	0.02053	-1.1222	10	0.45353	T	0.12	-21.4069	5.8672	0.18781	0.4365:0.1508:0.4127:0.0	.	673;625	P29590;P29590-11	PML_HUMAN;.	V	673;234;656	ENSP00000268058:I673V	ENSP00000268058:I673V	I	+	1	0	PML	72123770	0.545000	0.26449	0.843000	0.33291	0.872000	0.50106	-0.209000	0.09358	-0.537000	0.06290	-0.371000	0.07208	ATC	PML	-	NULL	ENSG00000140464		0.607	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	-	0	20	0	A	NM_002675		74336717	1	tier1	-	no_errors	ENST00000268058	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.783	G	G	74336717	A	G	74336717	3	3	101	1	0	0	0	0	1	0	0	0	12174	449	16	4	3068	4	PML	15	74336717	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	17901633	74336717	28194675	63	28649											
KIAA1024	23251	genome.wustl.edu	37	chr15	79750680	79750680	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatctccaactcgcccAgagactggcgcaccatcact	10	6	7	18	2	2	1	1	0	1	1	4	2	2	1	4	1	2	2	4	1	1	0			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:79750680A>T	ENST00000305428.3	+	2	2266	c.2191A>T	c.(2191-2193)Aga>Tga	p.R731*		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	731						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAACTCGCCCAGAGACTGGCG	0.507																																																	0													78	75	76					15																	79750680		2196	4293	6489	SO:0001587	stop_gained	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2191A>T	15.37:g.79750680A>T	ENSP00000307461:p.Arg731*		A7MD43	Nonsense_Mutation	SNP	pfam_UPF0258	p.R731*	ENST00000305428.3	37	c.2191	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	A	39	7.901596	0.98551	.	.	ENSG00000169330	ENST00000305428	.	.	.	5.68	-5.97	0.02227	.	0.097765	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	23.8086	0.99986	0.1991:0.8009:0.0:0.0	.	.	.	.	X	731	.	.	R	+	1	2	KIAA1024	77537735	0.015000	0.18098	0.595000	0.28798	0.696000	0.40369	0.209000	0.17435	-0.944000	0.03686	-0.331000	0.08364	AGA	KIAA1024	-	NULL	ENSG00000169330		0.507	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0	25	0	A	NM_015206		79750680	1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	nonsense	25.64	29	10	SNP	0.121	T	T	79750680	A	T	79750680	4	4	101	1	0	0	0	0	0	1	0	0	8232	180	7	5	2193	5	KIAA1024	15	79750680	Nonsense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	5413963	79750680	22780712	64	28650											
FANCI	55215	genome.wustl.edu	37	chr15	89804864	89804864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaattagccaatgagtttAttagtgctgtcagagaaggc	12	13	11	5	0	1	3	1	2	0	1	1	4	1	3	1	1	2	2	1	1	6	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr15:89804864A>G	ENST00000310775.7	+	5	423	c.337A>G	c.(337-339)Att>Gtt	p.I113V	FANCI_ENST00000300027.8_Missense_Mutation_p.I113V|FANCI_ENST00000567996.1_Missense_Mutation_p.I113V|FANCI_ENST00000451393.2_5'UTR	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	113					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAATGAGTTTATTAGTGCTGT	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													183	181	182					15																	89804864		2200	4299	6499	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.337A>G	15.37:g.89804864A>G	ENSP00000310842:p.Ile113Val		A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.I113V	ENST00000310775.7	37	c.337	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	A	0.605	-0.827388	0.02734	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.38560	1.13;1.13;1.13	5.27	-1.32	0.09201	.	0.773311	0.11450	N	0.562874	T	0.08358	0.0208	N	0.00138	-2.015	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.48514	-0.9029	10	0.02654	T	1	-3.0355	9.6601	0.39950	0.4675:0.0:0.5325:0.0	.	113;113	Q9NVI1;Q9NVI1-1	FANCI_HUMAN;.	V	113	ENSP00000300027:I113V;ENSP00000310842:I113V;ENSP00000413249:I113V	ENSP00000300027:I113V	I	+	1	0	FANCI	87605868	1.000000	0.71417	0.199000	0.23439	0.766000	0.43426	1.280000	0.33202	-0.426000	0.07360	-0.242000	0.12053	ATT	FANCI	-	NULL	ENSG00000140525		0.393	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	-	0	34	0	A	NM_018193		89804864	1	tier1	-	no_errors	ENST00000310775	ensembl	human	known	74_37	missense	20.00	28	7	SNP	0.980	G	G	89804864	A	G	89804864	3	3	101	1	0	0	0	0	1	0	0	0	5691	449	16	4	351	4	FANCI	15	89804864	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09	10054184	89804864	12726528	65	28651											
FBXL16	146330	genome.wustl.edu	37	chr16	747209	747209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccagccagggcagccCgggacagtggagcagccagg	8	1	17	15	1	0	0	0	0	0	0	0	2	0	2	5	5	4	2	5	5	0	0			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr16:747209C>T	ENST00000397621.1	-	2	528	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	FBXL16_ENST00000324361.5_Missense_Mutation_p.R66Q|FBXL16_ENST00000562563.1_5'Flank|FBXL16_ENST00000562585.1_5'Flank	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	66	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CAGGGCAGCCCGGGACAGTGG	0.746																																																	0													4	5	5					16																	747209		1215	2776	3991	SO:0001583	missense	0			BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"F-boxes / Leucine-rich repeats"	14150	protein-coding gene	gene with protein product		609082	"chromosome 16 open reading frame 22"	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.197G>A	16.37:g.747209C>T	ENSP00000380746:p.Arg66Gln		B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.R66Q	ENST00000397621.1	37	c.197	CCDS10421.1	16	.	.	.	.	.	.	.	.	.	.	c	4.165	0.029121	0.08054	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.59364	0.27;0.27	4.25	2.09	0.27110	.	0.351001	0.25968	N	0.027150	T	0.28400	0.0702	N	0.14661	0.345	0.22989	N	0.99847	B	0.34161	0.439	B	0.17722	0.019	T	0.07790	-1.0754	10	0.25751	T	0.34	.	5.8886	0.18896	0.4096:0.4467:0.1437:0.0	.	66	Q8N461	FXL16_HUMAN	Q	66	ENSP00000380746:R66Q;ENSP00000318674:R66Q	ENSP00000318674:R66Q	R	-	2	0	FBXL16	687210	1.000000	0.71417	0.994000	0.49952	0.420000	0.31355	1.825000	0.39081	1.919000	0.55581	0.313000	0.20887	CGG	FBXL16	-	NULL	ENSG00000127585		0.746	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL16	HGNC	protein_coding	OTTHUMT00000206851.2		0	8	0	C	NM_153350		747209	-1			no_errors	ENST00000324361	ensembl	human	known	74_37	missense	50.00	2	2	SNP	0.995	T	T	747209	C	T	747209	3	4	101	1	0	0	0	0	1	0	0	0	5734	652	23	1	1262	1	FBXL16	16	747209	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		747209	89607544	66	28652											
FTO	79068	genome.wustl.edu	37	chr16	53860093	53860093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaatgactacctgcaGatagaaaccatccaggcttt	14	9	7	11	0	1	3	1	1	0	2	2	3	2	3	3	1	4	3	3	1	5	3			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr16:53860093G>T	ENST00000471389.1	+	3	663	c.441G>T	c.(439-441)caG>caT	p.Q147H	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	147	Fe2OG dioxygenase domain.				adipose tissue development (GO:0060612)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|oxidative demethylation (GO:0070989)|oxidative single-stranded DNA demethylation (GO:0035552)|oxidative single-stranded RNA demethylation (GO:0035553)|regulation of lipid storage (GO:0010883)|regulation of multicellular organism growth (GO:0040014)|regulation of respiratory system process (GO:0044065)|regulation of white fat cell proliferation (GO:0070350)|RNA repair (GO:0042245)|temperature homeostasis (GO:0001659)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|oxidative DNA demethylase activity (GO:0035516)|oxidative RNA demethylase activity (GO:0035515)			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ACTACCTGCAGATAGAAACCA	0.493																																																	0													78	68	72					16																	53860093		2198	4300	6498	SO:0001583	missense	0			BC003583	CCDS32448.1	16q12.2	2013-11-15			ENSG00000140718	ENSG00000140718		"Alkylation repair homologs"	24678	protein-coding gene	gene with protein product	"AlkB homolog 9", "alpha-ketoglutarate-dependent dioxygenase"	610966				17434869, 17991826, 22002720	Standard	NM_001080432		Approved	KIAA1752, MGC5149, ALKBH9	uc002ehr.3	Q9C0B1	OTTHUMG00000158780	ENST00000471389.1:c.441G>T	16.37:g.53860093G>T	ENSP00000418823:p.Gln147His		A2RUH1|B2RNS0|Q0P676|Q7Z785	Missense_Mutation	SNP	NULL	p.Q147H	ENST00000471389.1	37	c.441	CCDS32448.1	16	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713000	0.30413	.	.	ENSG00000140718	ENST00000471389	T	0.76968	-1.06	5.47	0.953	0.19590	Alpha-ketoglutarate-dependent dioxygenase FTO, catalytic domain (1);	0.268622	0.44688	D	0.000426	T	0.68869	0.3048	L	0.27053	0.805	0.28697	N	0.904263	D	0.62365	0.991	P	0.59288	0.855	T	0.61797	-0.6989	10	0.11485	T	0.65	-13.346	4.1373	0.10178	0.2754:0.0:0.4211:0.3036	.	147	Q9C0B1	FTO_HUMAN	H	147	ENSP00000418823:Q147H	ENSP00000418823:Q147H	Q	+	3	2	FTO	52417594	0.931000	0.31567	0.498000	0.27564	0.976000	0.68499	1.277000	0.33167	0.682000	0.31407	-0.136000	0.14681	CAG	FTO	-	NULL	ENSG00000140718		0.493	FTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTO	HGNC	protein_coding	OTTHUMT00000352196.1	-	0	27	0	G	NM_001080432		53860093	1	tier1	-	no_errors	ENST00000471389	ensembl	human	known	74_37	missense	40.74	16	11	SNP	0.220	T	T	53860093	G	T	53860093	3	4	101	1	0	0	0	0	1	0	0	0	6110	933	33	3	451	3	FTO	16	53860093	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	53112884	53860093	36494660	67	28653											
IRX6	79190	genome.wustl.edu	37	chr16	55361662	55361662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgaccctcacccaggTgtccacctggttcgccaacg	9	7	9	16	2	1	2	1	1	0	1	3	2	2	2	5	2	1	1	5	2	2	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr16:55361662T>A	ENST00000290552.7	+	4	1910	c.578T>A	c.(577-579)gTg>gAg	p.V193E	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	193					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CTCACCCAGGTGTCCACCTGG	0.572																																																	0													132	107	115					16																	55361662		2198	4300	6498	SO:0001583	missense	0			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"Homeoboxes / TALE class"	14675	protein-coding gene	gene with protein product		606196	"iroquois homeobox protein 7", "iroquois homeobox protein 6"	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.578T>A	16.37:g.55361662T>A	ENSP00000290552:p.Val193Glu		B2RN06|Q7Z2K0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.V193E	ENST00000290552.7	37	c.578	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	T	34	5.374205	0.95923	.	.	ENSG00000159387	ENST00000290552	D	0.90620	-2.7	5.97	5.97	0.96955	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98539	1.0631	10	0.87932	D	0	-32.1949	16.1119	0.81270	0.0:0.0:0.0:1.0	.	193;92	P78412;Q9BZI2	IRX6_HUMAN;.	E	193	ENSP00000290552:V193E	ENSP00000290552:V193E	V	+	2	0	IRX6	53919163	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.950000	0.87804	2.288000	0.76882	0.533000	0.62120	GTG	IRX6	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000159387		0.572	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	-	0	61	0	T	NM_024335		55361662	1	tier1	-	no_errors	ENST00000290552	ensembl	human	known	74_37	missense	18.64	47	11	SNP	1.000	A	A	55361662	T	A	55361662	3	1	101	1	0	0	0	0	1	0	0	0	7875	1696	59	5	592	5	IRX6	16	55361662	Missense_Mutation	SNP	T	TCGA-LN-A49N-01A-11D-A247-09	1501569	55361662	34993091	68	28654											
NLRP1	22861	genome.wustl.edu	37	chr17	5462637	5462637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggttctgcagagctgtgGtccgagccgtgatcaggaag	8	9	16	8	2	2	3	1	2	1	1	3	5	3	4	2	3	3	3	2	3	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:5462637G>T	ENST00000572272.1	-	4	1378	c.1379C>A	c.(1378-1380)aCc>aAc	p.T460N	NLRP1_ENST00000354411.3_Missense_Mutation_p.T460N|NLRP1_ENST00000345221.3_Missense_Mutation_p.T460N|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.T460N|NLRP1_ENST00000577119.1_Missense_Mutation_p.T460N|NLRP1_ENST00000269280.4_Missense_Mutation_p.T460N			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	460	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGAGCTGTGGTCCGAGCCGT	0.552																																																	0													41	42	41					17																	5462637		2203	4300	6503	SO:0001583	missense	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"Nucleotide-binding domain and leucine rich repeat containing"	14374	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"	606636	"NACHT, leucine rich repeat and PYD (pyrin domain) containing 1", "systemic lupus erythematosus, vitiligo-related 1"	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1379C>A	17.37:g.5462637G>T	ENSP00000460475:p.Thr460Asn		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.T460N	ENST00000572272.1	37	c.1379	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748182	0.49257	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.45	-1.86	0.07760	NACHT nucleoside triphosphatase (1);	0.385935	0.19110	N	0.122475	T	0.80292	0.4596	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.79784	0.988;0.988;0.989;0.988;0.993	T	0.67887	-0.5554	10	0.39692	T	0.17	.	4.3211	0.11018	0.192:0.0:0.2655:0.5424	.	460;460;460;460;460	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	N	460	ENSP00000442029:T460N;ENSP00000262467:T460N;ENSP00000269280:T460N;ENSP00000346390:T460N;ENSP00000324366:T460N	ENSP00000262467:T460N	T	-	2	0	NLRP1	5403361	0.251000	0.23961	0.000000	0.03702	0.111000	0.19643	1.822000	0.39052	-0.124000	0.11724	0.650000	0.86243	ACC	NLRP1	-	pfscan_NACHT_NTPase	ENSG00000091592		0.552	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	-	0	37	0	G	NM_033004		5462637	-1	tier1	-	no_errors	ENST00000572272	ensembl	human	known	74_37	missense	23.68	29	9	SNP	0.013	T	T	5462637	G	T	5462637	3	4	101	1	0	0	0	0	1	0	0	0	10510	1261	44	3	3173	3	NLRP1	17	5462637	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09		5462637	75732573	69	28655											
TP53	7157	genome.wustl.edu	37	chr17	7577527	7577527	+	Frame_Shift_Del	DEL	G	G	-																															ttccagtgtgatgatggtgaGgatgggcctccggttcatgc																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:7577527delG	ENST00000269305.4	-	7	943	c.754delC	c.(754-756)ctcfs	p.L252fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.L252fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.L252fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L252fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	252	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in a sporadic cancer; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|L -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L252F(9)|p.0?(8)|p.L252fs*93(5)|p.L252del(5)|p.L252_I254delLTI(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.P250_L252delPIL(2)|p.L252_T253delLT(1)|p.?(1)|p.P250_T253delPILT(1)|p.L252fs*92(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.I251_L252insX(1)|p.R249_T256delRPILTIIT(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGATGGTGAGGATGGGCCTC	0.587		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	48	Deletion - In frame(21)|Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(2)|Insertion - In frame(1)|Unknown(1)	lung(8)|large_intestine(6)|upper_aerodigestive_tract(5)|haematopoietic_and_lymphoid_tissue(5)|stomach(4)|bone(4)|central_nervous_system(3)|liver(3)|endometrium(2)|breast(2)|biliary_tract(1)|peritoneum(1)|urinary_tract(1)|oesophagus(1)|skin(1)|ovary(1)											153	110	125					17																	7577527		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.754delC	17.37:g.7577527delG	ENSP00000269305:p.Leu252fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L252fs	ENST00000269305.4	37	c.754	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0	56	0	G	NM_000546		7577527	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	39.62	32	21	DEL	1.000	-	-	7577527	G	-	7577527	7	5	101	1	0	1	0	1	0	0	0	0	16429	1000	35	0	536	0	TP53	17	7577527	Frame_Shift_Del	DEL	G	TCGA-LN-A49N-01A-11D-A247-09	2114890	7577527	73617683	70	28656	106	2									
TP53	7157	genome.wustl.edu	37	chr17	7577528	7577528	+	Silent	SNP	G	G	T																															tccagtgtgatgatggtgagGatgggcctccggttcatgcc																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:7577528G>T	ENST00000269305.4	-	7	942	c.753C>A	c.(751-753)atC>atA	p.I251I	TP53_ENST00000359597.4_Silent_p.I251I|TP53_ENST00000420246.2_Silent_p.I251I|TP53_ENST00000445888.2_Silent_p.I251I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Silent_p.I251I|TP53_ENST00000413465.2_Silent_p.I251I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.I251_T253delILT(4)|p.I251I(3)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.P250_T253delPILT(1)|p.L252fs*92(1)|p.L252fs*93(1)|p.L252fs*12(1)|p.L252fs*13(1)|p.I251_L252insX(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)|p.I251fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGATGGTGAGGATGGGCCTCC	0.587		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	31	Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Substitution - coding silent(3)|Deletion - Frameshift(2)|Insertion - In frame(1)	liver(6)|upper_aerodigestive_tract(5)|large_intestine(4)|stomach(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|urinary_tract(1)|skin(1)	GRCh37	CM951231	TP53	M							153	111	125					17																	7577528		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.753C>A	17.37:g.7577528G>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I251	ENST00000269305.4	37	c.753	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	56	0	G	NM_000546		7577528	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	silent	42.31	30	22	SNP	1.000	T	T	7577528	G	T	7577528	2	4	101	1	0	0	0	0	0	0	0	1	16429	1164	41	3		3	TP53	17	7577528	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	1	7577528	73617682	71	28657	106	2									
SLFN12L	100506736	genome.wustl.edu	37	chr17	33806863	33806863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgatttcacaaaaatGtgaaagtagttaccattctg	14	13	6	8	0	2	2	1	2	1	0	3	2	3	2	2	0	1	2	2	0	5	4	rs12451746	byFrequency	TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:33806863G>A	ENST00000260908.7	-	2	483	c.366C>T	c.(364-366)caC>caT	p.H122H	SLFN12L_ENST00000449046.1_Silent_p.H153H|SLFN12L_ENST00000361112.4_Silent_p.H151H|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	122						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.H153H(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCACAAAAATGTGAAAGTAGT	0.398													G|||	1646	0.328674	0.3964	0.3473	5008	,	,		20602	0.2589		0.4125	False		,,,				2504	0.2096																1	Substitution - coding silent(1)	stomach(1)						G		558,826		115,328,249	114	101	105		366	-5	0	17	dbSNP_120	105	1355,1827		294,767,530	no	coding-synonymous	SLFN12L	NM_001195790.1		409,1095,779	AA,AG,GG		42.5833,40.3179,41.8966		122/589	33806863	1913,2653	692	1591	2283	SO:0001819	synonymous_variant	0			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.366C>T	17.37:g.33806863G>A			F5H6G3	Silent	SNP	pfam_ATPase_AAA-4	p.H153	ENST00000260908.7	37	c.459	CCDS56026.1	17																																																																																			SLFN12L	-	NULL	ENSG00000205045		0.398	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2		0	59	0	G	XM_496206		33806863	-1			no_errors	ENST00000449046	ensembl	human	known	74_37	silent	5.56	51	3	SNP	0.000	A	A	33806863	G	A	33806863	2	1	101	1	0	0	0	0	0	0	0	1	14780	1368	48	3		3	SLFN12L	17	33806863	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	26229335	33806863	47388347	72	28658											
C17orf46	124783	genome.wustl.edu	37	chr17	43334552	43334552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctccactgaccctttgccGcagcatggaaatccatgggc	9	8	9	15	1	0	1	0	1	0	0	2	2	2	2	5	2	2	2	5	2	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:43334552G>A	ENST00000331780.4	-	2	131	c.36C>T	c.(34-36)tgC>tgT	p.C12C	MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_5'UTR|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	12					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											ACCCTTTGCCGCAGCATGGAA	0.632																																																	0													68	50	56					17																	43334552		2203	4299	6502	SO:0001819	synonymous_variant	0			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"acrosome expressed 2"		"chromosome 17 open reading frame 46", "testis expressed 34"	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.36C>T	17.37:g.43334552G>A			Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.C12	ENST00000331780.4	37	c.36	CCDS32669.1	17																																																																																			SPATA32	-	NULL	ENSG00000184361		0.632	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1		0	31	0	G	NM_152343		43334552	-1			no_errors	ENST00000331780	ensembl	human	known	74_37	silent	5.88	32	2	SNP	0.028	A	A	43334552	G	A	43334552	2	1	101	1	0	0	0	0	0	0	0	1	1863	1079	38	1		1	C17orf46	17	43334552	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	9527689	43334552	37860658	73	28659											
CDC27	996	genome.wustl.edu	37	chr17	45235625	45235625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggatttaaactaaggCtcttttggtaacattctgat	13	14	9	5	0	2	1	0	1	2	0	2	3	2	3	0	4	2	2	0	4	5	7			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:45235625C>G	ENST00000066544.3	-	5	515	c.422G>C	c.(421-423)aGc>aCc	p.S141T	CDC27_ENST00000446365.2_Missense_Mutation_p.S80T|CDC27_ENST00000531206.1_Missense_Mutation_p.S141T|CDC27_ENST00000527547.1_Missense_Mutation_p.S141T|RP5-867C24.4_ENST00000574021.1_RNA|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TAAACTAAGGCTCTTTTGGTA	0.433																																																	0													50	51	51					17																	45235625		2203	4300	6503	SO:0001583	missense	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.422G>C	17.37:g.45235625C>G	ENSP00000066544:p.Ser141Thr		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S141T	ENST00000066544.3	37	c.422	CCDS11509.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.974836|2.974836	0.53720|0.53720	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000533415|ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.|T;T;T;T;D	.|0.88664	.|-0.06;-0.06;-0.06;-0.06;-2.41	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86994|0.86994	0.6067|0.6067	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999996|0.999996	.|P;B;B;B	.|0.43231	.|0.801;0.242;0.411;0.151	.|B;B;B;B	.|0.43990	.|0.438;0.108;0.147;0.102	D|D	0.87975|0.87975	0.2739|0.2739	6|10	0.87932|0.59425	D|D	0|0.04	-8.1078|-8.1078	17.2195|17.2195	0.86953|0.86953	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|80;141;141;141	.|B4DL80;G5EA36;G3V1C4;P30260	.|.;.;.;CDC27_HUMAN	P|T	92|141;141;80;141;141	.|ENSP00000066544:S141T;ENSP00000434614:S141T;ENSP00000392802:S80T;ENSP00000437339:S141T;ENSP00000432105:S141T	ENSP00000432211:A92P|ENSP00000066544:S141T	A|S	-|-	1|2	0|0	CDC27|CDC27	42590624|42590624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.840000|0.840000	0.47671|0.47671	6.861000|6.861000	0.75478|0.75478	2.667000|2.667000	0.90743|0.90743	0.585000|0.585000	0.79938|0.79938	GCC|AGC	CDC27	-	smart_TPR_repeat	ENSG00000004897		0.433	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	-	0	12	0	C			45235625	-1	tier1	-	no_errors	ENST00000531206	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	G	G	45235625	C	G	45235625	3	3	101	1	0	0	0	0	1	0	0	0	3073	797	28	5	2130	5	CDC27	17	45235625	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09	1901073	45235625	35959585	74	28660											
UNC13D	201294	genome.wustl.edu	37	chr17	73827330	73827330	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accggttctgttacctgcagGgcaatcttcagcctgttgga	7	12	11	11	1	3	0	1	0	2	0	3	1	3	1	3	3	3	5	3	3	2	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr17:73827330G>A	ENST00000207549.4	-	26	2926	c.2547C>T	c.(2545-2547)gcC>gcT	p.A849A	UNC13D_ENST00000412096.2_Silent_p.A849A	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	849	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACCTGCAGGGCAATCTTCA	0.612									Familial Hemophagocytic Lymphohistiocytosis																																								0													83	81	82					17																	73827330		2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2547C>T	17.37:g.73827330G>A			B4DWG9|Q9H7K5	Silent	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A849	ENST00000207549.4	37	c.2547	CCDS11730.1	17																																																																																			UNC13D	-	pfam_Munc13_subgr_dom-2	ENSG00000092929		0.612	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	-	0	34	0	G	XM_113950		73827330	-1	tier1	-	no_errors	ENST00000412096	ensembl	human	known	74_37	silent	41.30	27	19	SNP	0.985	A	A	73827330	G	A	73827330	2	1	101	1	0	0	0	0	0	0	0	1	17036	1219	43	3		3	UNC13D	17	73827330	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	28591705	73827330	7367880	75	28661											
TAF4B	6875	genome.wustl.edu	37	chr18	23873435	23873435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggaaataaaattctgtCacttcaagcatctcctactc	12	12	5	12	0	4	0	2	0	2	0	6	1	4	1	2	1	2	1	2	1	5	4			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr18:23873435C>T	ENST00000269142.5	+	9	2770	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L	TAF4B_ENST00000578121.1_Missense_Mutation_p.S596L|TAF4B_ENST00000400466.2_Missense_Mutation_p.S591L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	591					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AAAATTCTGTCACTTCAAGCA	0.289																																																	0													41	39	39					18																	23873435		1790	4047	5837	SO:0001583	missense	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"TATA box binding protein (TBP)-associated factor 4B"	601689	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1772C>T	18.37:g.23873435C>T	ENSP00000269142:p.Ser591Leu		Q29YA4|Q29YA5	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.S591L	ENST00000269142.5	37	c.1772	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	C	14.50	2.553718	0.45487	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T	0.27557	1.66;1.66	5.27	5.27	0.74061	.	0.712825	0.13589	N	0.376740	T	0.46814	0.1412	M	0.66939	2.045	0.45607	D	0.998547	P;D	0.58268	0.948;0.982	P;P	0.50314	0.576;0.637	T	0.46830	-0.9163	10	0.52906	T	0.07	-3.2407	18.4848	0.90824	0.0:1.0:0.0:0.0	.	591;596	Q92750;A4PBF7	TAF4B_HUMAN;.	L	594;591;591	ENSP00000269142:S591L;ENSP00000383314:S591L	ENSP00000269142:S591L	S	+	2	0	TAF4B	22127433	0.994000	0.37717	0.995000	0.50966	0.900000	0.52787	3.323000	0.52014	2.472000	0.83506	0.467000	0.42956	TCA	TAF4B	-	NULL	ENSG00000141384		0.289	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3		0	27	0	C	NM_005640		23873435	1			no_errors	ENST00000269142	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	23873435	C	T	23873435	3	4	101	1	0	0	0	0	1	0	0	0	15574	838	29	3	1806	3	TAF4B	18	23873435	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		23873435	54203813	76	28662											
ANKRD27	84079	genome.wustl.edu	37	chr19	33134495	33134495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccaggtgagagtccctcaGaagctgctggaggcatttgg	9	9	14	9	0	1	2	1	1	0	2	2	4	2	3	2	4	3	3	2	4	2	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:33134495G>A	ENST00000306065.4	-	6	726	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	ANKRD27_ENST00000587352.1_Silent_p.L190L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	190					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGTCCCTCAGAAGCTGCTGG	0.547																																																	0													175	177	176					19																	33134495		2203	4300	6503	SO:0001819	synonymous_variant	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"Ankyrin repeat domain containing"	25310	protein-coding gene	gene with protein product	"Vps9 domain and ankyrin-repeat-containing protein"					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.568C>T	19.37:g.33134495G>A			Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.L190	ENST00000306065.4	37	c.568	CCDS32986.1	19																																																																																			ANKRD27	-	NULL	ENSG00000105186		0.547	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0	60	0	G	NM_032139		33134495	-1	tier1	-	no_errors	ENST00000306065	ensembl	human	known	74_37	silent	26.67	44	16	SNP	0.888	A	A	33134495	G	A	33134495	2	1	101	1	0	0	0	0	0	0	0	1	655	933	33	3		3	ANKRD27	19	33134495	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09		33134495	25994488	77	28663											
BCAM	4059	genome.wustl.edu	37	chr19	45322033	45322033	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgatggccccatgctgtcGctcagttctatcaccttcga	6	11	10	14	3	3	0	2	0	1	0	5	2	3	0	3	2	1	3	3	2	1	3	rs371664685		TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:45322033G>T	ENST00000270233.6	+	10	1252	c.1230G>T	c.(1228-1230)tcG>tcT	p.S410S	BCAM_ENST00000589651.1_Silent_p.S410S	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	410	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCATGCTGTCGCTCAGTTCTA	0.632																																																	0								G	,	0,4406		0,0,2203	127	110	116		1230,1230	-9.2	0	19		116	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	BCAM	NM_001013257.1,NM_005581.3	,	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	,	410/589,410/629	45322033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"CD molecules", "Blood group antigens", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6722	protein-coding gene	gene with protein product		612773	"Lutheran blood group (Auberger b antigen included)", "basal cell adhesion molecule (Lu and Au blood groups)"	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.1230G>T	19.37:g.45322033G>T			A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S410	ENST00000270233.6	37	c.1230	CCDS12644.1	19																																																																																			BCAM	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000187244		0.632	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAM	HGNC	protein_coding	OTTHUMT00000453220.1	-	0	42	0	G	NM_005581		45322033	1	tier1	-	no_errors	ENST00000270233	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.000	T	T	45322033	G	T	45322033	2	4	101	1	0	0	0	0	0	0	0	1	1345	1074	38	2		2	BCAM	19	45322033	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	12187538	45322033	13806950	78	28664											
ERCC2	2068	genome.wustl.edu	37	chr19	45860787	45860787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacgggtttgatggccagcGaggcgtccatgcagctggag	8	8	16	9	3	0	1	0	1	0	0	1	3	1	2	2	4	4	3	2	4	1	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:45860787G>A	ENST00000391945.4	-	14	1399	c.1322C>T	c.(1321-1323)tCg>tTg	p.S441L	ERCC2_ENST00000391944.3_Missense_Mutation_p.S363L	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	441	Mediates interaction with MMS19.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GATGGCCAGCGAGGCGTCCAT	0.637			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	"excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"		E	0													69	65	66					19																	45860787		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"General transcription factor IIH complex subunits"	3434	protein-coding gene	gene with protein product	"excision repair cross-complementing rodent repair deficiency, complementation group 2 protein", "TFIIH basal transcription factor complex helicase XPB subunit"	126340	"xeroderma pigmentosum complementary group D", "excision repair cross-complementing rodent repair deficiency, complementation group 2"	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1322C>T	19.37:g.45860787G>A	ENSP00000375809:p.Ser441Leu		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S441L	ENST00000391945.4	37	c.1322	CCDS33049.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.086888	0.94100	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.84730	-1.67;-1.89	5.51	5.51	0.81932	.	0.271434	0.36815	N	0.002396	D	0.94503	0.8230	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	0.995;0.988;1.0	P;P;D	0.76575	0.679;0.646;0.988	D	0.95698	0.8746	10	0.87932	D	0	-17.5001	14.9036	0.70699	0.0:0.0:1.0:0.0	.	363;441;134	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	L	391;417;441;363	ENSP00000375809:S441L;ENSP00000375808:S363L	ENSP00000375805:S391L	S	-	2	0	ERCC2	50552627	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	8.422000	0.90262	2.586000	0.87340	0.561000	0.74099	TCG	ERCC2	-	superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000104884		0.637	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC2	HGNC	protein_coding	OTTHUMT00000109626.2	-	0	44	0	G	NM_000400		45860787	-1	tier1	-	no_errors	ENST00000391945	ensembl	human	known	74_37	missense	28.12	23	9	SNP	1.000	A	A	45860787	G	A	45860787	3	1	101	1	0	0	0	0	1	0	0	0	5229	1059	37	1	1000	1	ERCC2	19	45860787	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	538754	45860787	13268196	79	28665											
LENG8	114823	genome.wustl.edu	37	chr19	54968055	54968055	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcaccaagcactacctGcgcctcacctgtgcccccga	9	6	7	19	2	2	0	2	0	0	0	2	2	2	0	6	0	4	1	6	0	2	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr19:54968055G>C	ENST00000326764.5	+	11	2165	c.1686G>C	c.(1684-1686)ctG>ctC	p.L562L	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	525										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCACTACCTGCGCCTCACCT	0.652																																																	0													43	38	40					19																	54968055		2203	4298	6501	SO:0001819	synonymous_variant	0			AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1686G>C	19.37:g.54968055G>C			B0VJY9|Q8IZ27|Q8NCX6	Silent	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.L562	ENST00000326764.5	37	c.1686	CCDS12894.1	19																																																																																			LENG8	-	NULL	ENSG00000167615		0.652	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG8	HGNC	protein_coding	OTTHUMT00000140523.2	-	0	49	0	G	NM_052925		54968055	1	tier1	-	no_errors	ENST00000326764	ensembl	human	known	74_37	silent	30.56	25	11	SNP	1.000	C	C	54968055	G	C	54968055	2	2	101	1	0	0	0	0	0	0	0	1	8752	1306	46	5		5	LENG8	19	54968055	Silent	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	9107268	54968055	4160928	80	28666											
ANGPT4	51378	genome.wustl.edu	37	chr20	861854	861854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacctggatggtgtagAcaccactggcactggcccca	9	7	12	13	0	0	1	0	0	0	1	0	3	0	3	4	5	0	2	4	5	1	1			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr20:861854A>G	ENST00000381922.3	-	5	1013	c.911T>C	c.(910-912)gTc>gCc	p.V304A	ANGPT4_ENST00000546022.1_Missense_Mutation_p.V304A	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	304	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GATGGTGTAGACACCACTGGC	0.567																																					Pancreas(181;481 2077 3259 31286 49856)												0													74	62	66					20																	861854		2203	4300	6503	SO:0001583	missense	0			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"Fibrinogen C domain containing"	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.911T>C	20.37:g.861854A>G	ENSP00000371347:p.Val304Ala		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.V304A	ENST00000381922.3	37	c.911	CCDS13009.1	20	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699252	0.68501	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.12774	2.65;2.65	4.91	4.91	0.64330	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.990706	0.08210	N	0.980840	T	0.45915	0.1366	M	0.93062	3.375	0.46564	D	0.999104	D;D	0.56746	0.977;0.977	P;P	0.59546	0.859;0.817	T	0.40117	-0.9580	10	0.59425	D	0.04	.	13.5025	0.61465	1.0:0.0:0.0:0.0	.	304;304	B4E3J9;Q9Y264	.;ANGP4_HUMAN	A	304	ENSP00000371347:V304A;ENSP00000439605:V304A	ENSP00000371347:V304A	V	-	2	0	ANGPT4	809854	1.000000	0.71417	0.921000	0.36526	0.248000	0.25809	5.918000	0.69996	2.069000	0.61940	0.459000	0.35465	GTC	ANGPT4	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000101280		0.567	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPT4	HGNC	protein_coding	OTTHUMT00000077493.1	-	0	44	0	A	NM_015985		861854	-1	tier1	-	no_errors	ENST00000381922	ensembl	human	known	74_37	missense	20.00	24	6	SNP	0.998	G	G	861854	A	G	861854	3	3	101	1	0	0	0	0	1	0	0	0	612	275	10	4	620	4	ANGPT4	20	861854	Missense_Mutation	SNP	A	TCGA-LN-A49N-01A-11D-A247-09		861854	62163666	81	28667											
STAU1	6780	genome.wustl.edu	37	chr20	47768220	47768220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcctttgccattaaattGctgtcctcccacagaaagtt	9	15	5	12	0	0	1	0	0	0	1	3	1	3	1	4	0	2	2	4	0	3	5			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr20:47768220G>T	ENST00000371856.2	-	5	819	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	STAU1_ENST00000360426.4_Missense_Mutation_p.Q56K|STAU1_ENST00000371792.1_Missense_Mutation_p.Q56K|STAU1_ENST00000340954.7_Missense_Mutation_p.Q56K|STAU1_ENST00000347458.5_Missense_Mutation_p.Q56K|STAU1_ENST00000371802.1_Missense_Mutation_p.Q56K|STAU1_ENST00000371828.3_Missense_Mutation_p.Q56K	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	137	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCATTAAATTGCTGTCCTCCC	0.463																																																	0													147	130	135					20																	47768220		2203	4300	6503	SO:0001583	missense	0				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 150"	601716	"staufen (Drosophila, RNA-binding protein)", "staufen, RNA binding protein (Drosophila)", "staufen, RNA binding protein, homolog 1 (Drosophila)"	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.409C>A	20.37:g.47768220G>T	ENSP00000360922:p.Gln137Lys		A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	p.Q137K	ENST00000371856.2	37	c.409	CCDS13414.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.528981	0.96446	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404;ENST00000456866	T;T;T;T;T;T;T;T;T	0.74947	0.15;0.15;-0.89;0.15;0.15;0.15;0.15;0.15;-0.89	5.63	5.63	0.86233	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.80270	0.4592	L	0.45137	1.4	0.80722	D	1	B;P	0.46064	0.206;0.872	B;P	0.54664	0.122;0.758	T	0.81136	-0.1070	10	0.72032	D	0.01	-9.9742	19.7096	0.96089	0.0:0.0:1.0:0.0	.	137;56	O95793;Q5JW29	STAU1_HUMAN;.	K	56;56;137;56;56;56;56;56;56;96	ENSP00000360893:Q56K;ENSP00000345425:Q56K;ENSP00000360922:Q137K;ENSP00000353604:Q56K;ENSP00000323443:Q56K;ENSP00000360867:Q56K;ENSP00000360857:Q56K;ENSP00000416779:Q56K;ENSP00000398785:Q96K	ENSP00000345425:Q56K	Q	-	1	0	STAU1	47201627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.652000	0.90054	0.655000	0.94253	CAA	STAU1	-	pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom	ENSG00000124214		0.463	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAU1	HGNC	protein_coding	OTTHUMT00000079633.1	-	0	44	0	G	NM_017453		47768220	-1	tier1	-	no_errors	ENST00000371856	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	47768220	G	T	47768220	3	4	101	1	0	0	0	0	1	0	0	0	15319	1328	46	3	1382	3	STAU1	20	47768220	Missense_Mutation	SNP	G	TCGA-LN-A49N-01A-11D-A247-09	46906366	47768220	15257300	82	28668											
POTEH	23784	genome.wustl.edu	37	chr22	16287537	16287537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctccagaagtgcccaCgttgctcttgccgctccccc	4	10	10	17	2	2	1	0	0	2	1	4	1	3	1	5	1	3	3	5	1	1	2			TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chr22:16287537C>T	ENST00000343518.6	-	1	400	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	117										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAAGTGCCCACGTTGCTCTTG	0.602																																																	0													94	107	102					22																	16287537		2057	3900	5957	SO:0001583	missense	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	133	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 7"	608913	"actin, beta-like 1", "ANKRD26-like family C, member 3"	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.349G>A	22.37:g.16287537C>T	ENSP00000340610:p.Val117Met		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V117M	ENST00000343518.6	37	c.349	CCDS46658.1	22	.	.	.	.	.	.	.	.	.	.	.	4.508	0.094252	0.08632	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.30714	1.52	.	.	.	.	.	.	.	.	T	0.17789	0.0427	L	0.55481	1.735	0.09310	N	1	P	0.40534	0.72	B	0.23574	0.047	T	0.06917	-1.0800	7	0.72032	D	0.01	.	.	.	.	.	117	Q6S545	POTEH_HUMAN	M	80;117;117	ENSP00000340610:V117M	ENSP00000340610:V117M	V	-	1	0	POTEH	14667537	0.007000	0.16637	0.005000	0.12908	0.005000	0.04900	0.922000	0.28734	-1.120000	0.02953	-1.163000	0.01768	GTG	POTEH	-	NULL	ENSG00000198062		0.602	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH	HGNC	protein_coding	OTTHUMT00000276918.4	-	0	191	0	C	NM_001136213		16287537	-1	tier1	-	no_errors	ENST00000343518	ensembl	human	known	74_37	missense	14.29	185	31	SNP	0.006	T	T	16287537	C	T	16287537	3	4	101	1	0	0	0	0	1	0	0	0	12306	536	19	1	1328	1	POTEH	22	16287537	Missense_Mutation	SNP	C	TCGA-LN-A49N-01A-11D-A247-09		16287537	35017029	83	28669											
ZBED1	9189	genome.wustl.edu	37	chrX	2408163	2408165	+	In_Frame_Del	DEL	TGT	TGT	-																															ctgattctcactcctccacaTgtcggtggagatgccacacc																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chrX:2408163_2408165delTGT	ENST00000381223.4	-	2	799_801	c.596_598delACA	c.(595-600)gacatg>gtg	p.199_200DM>V	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_In_Frame_Del_p.199_200DM>V|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_In_Frame_Del_p.199_200DM>V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	199					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTCCACATGTCGGTGGAGAT	0.645																																																	0																																										SO:0001651	inframe_deletion	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.596_598delACA	X.37:g.2408163_2408165delTGT	ENSP00000370621:p.Asp199_Met200delinsVal		Q96BY4	In_Frame_Del	DEL	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.DM199in_frame_delV	ENST00000381223.4	37	c.598_596	CCDS14118.1	X																																																																																			ZBED1	-	superfamily_RNaseH-like_dom	ENSG00000214717		0.645	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3		0	63	0	TGT	NM_004729		2408165	-1	tier1		no_errors	ENST00000381218	ensembl	human	known	74_37	in_frame_del	25.40	47	16	DEL	0.584:0.703:0.959	-	-	2408165	TGT	-	2408163	7	5	101	1	0	1	0	1	0	0	0	0	17566	1464	51	0	1490	0	ZBED1	23	2408163	In_Frame_Del	DEL	TGT	TCGA-LN-A49N-01A-11D-A247-09		2408163	152862397	84	28670	107	2									
ZBED1	9189	genome.wustl.edu	37	chrX	2408167	2408169	+	In_Frame_Del	DEL	GGT	GGT	-																															ttctcactcctccacatgtcGgtggagatgccacaccaggt																										TCGA-LN-A49N-01A-11D-A247-09	TCGA-LN-A49N-10A-01D-A247-09	GGT	GGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	25b2c389-9567-4d9d-bd13-37ec79e35b20	6ebf21f8-3c1f-41d6-8ef0-e7f6e97a45e4	g.chrX:2408167_2408169delGGT	ENST00000381223.4	-	2	795_797	c.592_594delACC	c.(592-594)accdel	p.T198del	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_In_Frame_Del_p.T198del|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_In_Frame_Del_p.T198del	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	198					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCACATGTCGGTGGAGATGCCA	0.65																																																	0																																										SO:0001651	inframe_deletion	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"Pseudoautosomal regions / PAR1", "Zinc fingers, BED-type"	447	protein-coding gene	gene with protein product		300178	"Ac-like transposable element"	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.592_594delACC	X.37:g.2408167_2408169delGGT	ENSP00000370621:p.Thr198del		Q96BY4	In_Frame_Del	DEL	pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.T198in_frame_del	ENST00000381223.4	37	c.594_592	CCDS14118.1	X																																																																																			ZBED1	-	superfamily_RNaseH-like_dom	ENSG00000214717		0.65	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3		0	63	0	GGT	NM_004729		2408169	-1	tier1		no_errors	ENST00000381218	ensembl	human	known	74_37	in_frame_del	23.53	52	16	DEL	0.041:0.747:0.750	-	-	2408169	GGT	-	2408167	7	5	101	1	0	1	0	1	0	0	0	0	17566	1103	39	0	1494	0	ZBED1	23	2408167	In_Frame_Del	DEL	GGT	TCGA-LN-A49N-01A-11D-A247-09	4	2408167	152862393	85	28671	107	2									
TMEM201	199953	genome.wustl.edu	37	chr1	9661232	9661232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgccttcctggcctgcGccttcctactgaccaccgcg	3	9	8	21	4	0	1	0	1	0	0	3	1	2	1	8	1	2	0	8	1	1	3	rs569987514		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:9661232G>T	ENST00000340381.6	+	5	685	c.676G>T	c.(676-678)Gcc>Tcc	p.A226S	TMEM201_ENST00000340305.5_Missense_Mutation_p.A226S|TMEM201_ENST00000377376.4_Missense_Mutation_p.A226S	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	226					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGCCTGCGCCTTCCTACT	0.657																																																	0													73	74	74					1																	9661232		2203	4300	6503	SO:0001583	missense	0				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.676G>T	1.37:g.9661232G>T	ENSP00000344503:p.Ala226Ser		B9EH90|Q5SNT3	Missense_Mutation	SNP	pfam_DUF2448,pfam_Ima1_N	p.A226S	ENST00000340381.6	37	c.676	CCDS44055.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.11|14.11	2.438587|2.438587	0.43326|0.43326	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000377376;ENST00000340305;ENST00000340381|ENST00000416541	.|.	.|.	.|.	4.98|4.98	2.37|2.37	0.29283|0.29283	.|.	0.449576|.	0.22570|.	N|.	0.058356|.	T|T	0.28995|0.28995	0.0720|0.0720	N|N	0.19112|0.19112	0.55|0.55	0.29688|0.29688	N|N	0.841153|0.841153	P;B|.	0.35481|.	0.504;0.268|.	B;B|.	0.40565|.	0.333;0.132|.	T|T	0.24693|0.24693	-1.0153|-1.0153	9|5	0.28530|.	T|.	0.3|.	-16.1182|-16.1182	9.0218|9.0218	0.36204|0.36204	0.2436:0.0:0.7564:0.0|0.2436:0.0:0.7564:0.0	.|.	226;226|.	E9PBR6;Q5SNT2-2|.	.;.|.	S|L	226|135	.|.	ENSP00000344772:A226S|.	A|R	+|+	1|2	0|0	TMEM201|TMEM201	9583819|9583819	0.988000|0.988000	0.35896|0.35896	0.987000|0.987000	0.45799|0.45799	0.835000|0.835000	0.47333|0.47333	2.757000|2.757000	0.47557|0.47557	0.837000|0.837000	0.34925|0.34925	0.563000|0.563000	0.77884|0.77884	GCC|CGC	TMEM201	-	pfam_DUF2448	ENSG00000188807		0.657	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	HGNC	protein_coding	OTTHUMT00000127672.1		0	68	0	G	NM_001010866		9661232	1			no_errors	ENST00000340381	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.897	T	T	9661232	G	T	9661232	3	4	102	1	0	0	0	0	1	0	0	0	16173	1087	38	2	694	2	TMEM201	1	9661232	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09		9661232	239589389	1	28672											
UBIAD1	29914	genome.wustl.edu	37	chr1	11333860	11333860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggttgtgccgtggctgTcctggctgtgcacggggccg	1	10	20	10	3	0	0	0	0	0	0	1	0	1	0	3	6	2	4	3	6	0	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:11333860T>A	ENST00000376810.5	+	1	598	c.272T>A	c.(271-273)gTc>gAc	p.V91D	UBIAD1_ENST00000376804.2_Missense_Mutation_p.V91D	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	91					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GCCGTGGCTGTCCTGGCTGTG	0.567																																																	0													119	114	116					1																	11333860		2203	4300	6503	SO:0001583	missense	0				CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"transitional epithelia response protein"	611632	"Schnyder crystalline corneal dystrophy"	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.272T>A	1.37:g.11333860T>A	ENSP00000366006:p.Val91Asp		B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	pfam_UbiA_prenyltransferase	p.V91D	ENST00000376810.5	37	c.272	CCDS129.1	1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900117	0.92035	.	.	ENSG00000120942	ENST00000376810;ENST00000376804	D;D	0.93488	-3.23;-3.23	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	M	0.83483	2.645	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	D	0.96792	0.9583	10	0.59425	D	0.04	-12.3428	14.2365	0.65929	0.0:0.0:0.0:1.0	.	91	Q9Y5Z9	UBIA1_HUMAN	D	91	ENSP00000366006:V91D;ENSP00000366000:V91D	ENSP00000366000:V91D	V	+	2	0	UBIAD1	11256447	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.439000	0.80444	2.010000	0.58986	0.372000	0.22366	GTC	UBIAD1	-	pfam_UbiA_prenyltransferase	ENSG00000120942		0.567	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBIAD1	HGNC	protein_coding	OTTHUMT00000005773.1	-	0	73	0	T	NM_013319		11333860	1	tier1	-	no_errors	ENST00000376810	ensembl	human	known	74_37	missense	51.92	24	27	SNP	1.000	A	A	11333860	T	A	11333860	3	1	102	1	0	0	0	0	1	0	0	0	16934	1667	58	5	274	5	UBIAD1	1	11333860	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	1672628	11333860	237916761	2	28673											
MUL1	79594	genome.wustl.edu	37	chr1	20827583	20827583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaagtcctggctgcttagaTagtactgcatgccttgtttg	7	14	11	9	1	0	1	0	0	0	1	1	2	1	1	2	1	4	5	2	1	4	5			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:20827583T>C	ENST00000264198.3	-	4	795	c.659A>G	c.(658-660)tAt>tGt	p.Y220C		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	220					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		GCTGCTTAGATAGTACTGCAT	0.602																																																	0													74	71	72					1																	20827583		2203	4300	6503	SO:0001583	missense	0			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"RING-type (C3HC4) zinc fingers"	25762	protein-coding gene	gene with protein product	"ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1"	612037	"chromosome 1 open reading frame 166"	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.659A>G	1.37:g.20827583T>C	ENSP00000264198:p.Tyr220Cys		B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	pfam_MULAN,pfscan_Znf_RING	p.Y220C	ENST00000264198.3	37	c.659	CCDS208.1	1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.203473	0.38905	.	.	ENSG00000090432	ENST00000264198	T	0.31769	1.48	6.16	6.16	0.99307	.	0.048342	0.85682	D	0.000000	T	0.44393	0.1291	L	0.58101	1.795	0.53688	D	0.999979	D	0.56287	0.975	P	0.52957	0.714	T	0.38845	-0.9642	10	0.72032	D	0.01	-18.3734	14.7581	0.69583	0.0:0.0:0.0:1.0	.	220	Q969V5	MUL1_HUMAN	C	220	ENSP00000264198:Y220C	ENSP00000264198:Y220C	Y	-	2	0	MUL1	20700170	1.000000	0.71417	0.956000	0.39512	0.018000	0.09664	3.991000	0.56973	2.367000	0.80283	0.528000	0.53228	TAT	MUL1	-	pfam_MULAN	ENSG00000090432		0.602	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	HGNC	protein_coding	OTTHUMT00000007951.1	-	0	48	0	T	NM_024544		20827583	-1	tier1	-	no_errors	ENST00000264198	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	C	C	20827583	T	C	20827583	3	2	102	1	0	0	0	0	1	0	0	0	10022	1406	49	4	403	4	MUL1	1	20827583	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	9493723	20827583	228423038	3	28674											
GMEB1	10691	genome.wustl.edu	37	chr1	29030774	29030774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggttgtctgcaatatacaGaaggaaatagaggagctact	15	9	12	5	0	1	2	0	0	1	2	1	5	1	4	0	3	4	3	0	3	7	5			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:29030774G>A	ENST00000294409.2	+	8	921	c.831G>A	c.(829-831)caG>caA	p.Q277Q	GMEB1_ENST00000361872.4_Silent_p.Q267Q|GMEB1_ENST00000373816.1_Silent_p.Q267Q|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	277					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCAATATACAGAAGGAAATAG	0.473																																																	0													129	130	130					1																	29030774		2203	4300	6503	SO:0001819	synonymous_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.831G>A	1.37:g.29030774G>A			B1AT48|Q9NWH1|Q9UKD0	Silent	SNP	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	p.Q277	ENST00000294409.2	37	c.831	CCDS327.1	1																																																																																			GMEB1	-	NULL	ENSG00000162419		0.473	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1	-	0	42	0	G	NM_006582		29030774	1	tier1	-	no_errors	ENST00000294409	ensembl	human	known	74_37	silent	54.17	11	13	SNP	0.998	A	A	29030774	G	A	29030774	2	1	102	1	0	0	0	0	0	0	0	1	6513	933	33	3		3	GMEB1	1	29030774	Silent	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	8203191	29030774	220219847	4	28675											
RLF	6018	genome.wustl.edu	37	chr1	40654740	40654740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtagaccttattgcaatAtgcaagcaacaagaatgcat	15	12	7	7	0	0	2	0	0	0	2	0	2	0	2	1	0	5	5	1	0	8	5			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:40654740A>G	ENST00000372771.4	+	2	278	c.251A>G	c.(250-252)tAt>tGt	p.Y84C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	84					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTATTGCAATATGCAAGCAAC	0.343																																																	0													74	60	65					1																	40654740		2203	4300	6503	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"Zinc fingers, C2H2-type"	10025	protein-coding gene	gene with protein product		180610	"rearranged L-myc fusion sequence"			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.251A>G	1.37:g.40654740A>G	ENSP00000361857:p.Tyr84Cys		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y84C	ENST00000372771.4	37	c.251	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778228	0.70107	.	.	ENSG00000117000	ENST00000372771	T	0.21361	2.01	5.24	5.24	0.73138	.	0.064020	0.64402	D	0.000004	T	0.43722	0.1260	M	0.63843	1.955	0.51767	D	0.999937	D	0.76494	0.999	D	0.70716	0.97	T	0.40440	-0.9563	10	0.87932	D	0	-18.4139	15.1521	0.72709	1.0:0.0:0.0:0.0	.	84	Q13129	RLF_HUMAN	C	84	ENSP00000361857:Y84C	ENSP00000361857:Y84C	Y	+	2	0	RLF	40427327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.810000	0.69179	1.984000	0.57885	0.533000	0.62120	TAT	RLF	-	NULL	ENSG00000117000		0.343	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	-	0	44	0	A	NM_012421		40654740	1	tier1	-	no_errors	ENST00000372771	ensembl	human	known	74_37	missense	32.43	25	12	SNP	1.000	G	G	40654740	A	G	40654740	3	3	102	1	0	0	0	0	1	0	0	0	13434	449	16	4	257	4	RLF	1	40654740	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	11623966	40654740	208595881	5	28676											
NSUN4	387338	genome.wustl.edu	37	chr1	46826379	46826380	+	Frame_Shift_Ins	INS	-	-	T																															ttaacactctgggtaggtgcINStggtggatgtgccctgtacc																										TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:46826379_46826380insT	ENST00000474844.1	+	5	1407_1408	c.757_758insT	c.(757-759)ctgfs	p.L253fs	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Frame_Shift_Ins_p.L204fs|NSUN4_ENST00000536062.1_Frame_Shift_Ins_p.L204fs	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	253					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TGGGTAGGTGCTGGTGGATGTG	0.48																																																	0																																										SO:0001589	frameshift_variant	0			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"NOP2/Sun domain containing"	31802	protein-coding gene	gene with protein product	"sperm head and tail associated protein"	615394	"NOL1/NOP2/Sun domain family 4", "NOL1/NOP2/Sun domain family, member 4"				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.758dupT	1.37:g.46826380_46826380dupT	ENSP00000419740:p.Leu253fs		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Frame_Shift_Ins	INS	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.V254fs	ENST00000474844.1	37	c.757_758	CCDS534.1	1																																																																																			NSUN4	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT	ENSG00000117481		0.48	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1		0	57	0	-	NM_199044		46826380	1	tier1		no_errors	ENST00000474844	ensembl	human	known	74_37	frame_shift_ins	20.59	27	7	INS	1.000:1.000	T	T	46826380	-	T	46826379	7	5	102	1	0	1	1	0	0	0	0	0	10719	796	28	0	775	0	NSUN4	1	46826379	Frame_Shift_Ins	INS	-	TCGA-LN-A49O-01A-11D-A247-09	6171639	46826379	202424242	6	28677											
C1orf87	127795	genome.wustl.edu	37	chr1	60503712	60503712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttctcaggtctgcagctGctttattttgctgtggataa	6	19	9	7	0	2	0	1	0	2	0	3	1	2	1	0	2	4	4	0	2	2	7	rs372981563|rs144642485		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:60503712G>T	ENST00000371201.3	-	6	922	c.815C>A	c.(814-816)gCa>gAa	p.A272E	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	272							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTCTGCAGCTGCTTTATTTTG	0.388																																					NSCLC(75;811 1386 4923 13371 51772)												0													106	93	97					1																	60503712		2203	4300	6503	SO:0001583	missense	0			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"carcinoma-related EF-hand protein"					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.815C>A	1.37:g.60503712G>T	ENSP00000360244:p.Ala272Glu		Q6ZU07|Q8IVS0	Missense_Mutation	SNP	NULL	p.A272E	ENST00000371201.3	37	c.815	CCDS614.1	1	.	.	.	.	.	.	.	.	.	.	G	7.304	0.613575	0.14066	.	.	ENSG00000162598	ENST00000371201	T	0.17370	2.28	5.65	1.7	0.24286	.	0.782790	0.11876	N	0.520950	T	0.08714	0.0216	N	0.22421	0.69	0.09310	N	1	B	0.28933	0.228	B	0.24394	0.053	T	0.39187	-0.9626	10	0.08599	T	0.76	0.9431	6.5894	0.22638	0.0828:0.1642:0.6435:0.1096	.	272	Q8N0U7	CA087_HUMAN	E	272	ENSP00000360244:A272E	ENSP00000360244:A272E	A	-	2	0	C1orf87	60276300	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.093000	0.15086	0.170000	0.19704	0.655000	0.94253	GCA	C1orf87	-	NULL	ENSG00000162598		0.388	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf87	HGNC	protein_coding	OTTHUMT00000024943.1		0	55	0	G	NM_152377		60503712	-1			no_errors	ENST00000371201	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.000	T	T	60503712	G	T	60503712	3	4	102	1	0	0	0	0	1	0	0	0	2071	1319	46	3	853	3	C1orf87	1	60503712	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	13677333	60503712	188746909	7	28678											
SNX7	51375	genome.wustl.edu	37	chr1	99157106	99157106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagccattgccagaaaagTttatagtaaaaggaatggtg	15	11	10	5	0	0	1	0	0	0	1	0	2	0	2	2	2	2	2	2	2	8	6			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:99157106T>G	ENST00000306121.3	+	4	499	c.490T>G	c.(490-492)Ttt>Gtt	p.F164V	SNX7_ENST00000370189.5_Missense_Mutation_p.F100V|SNX7_ENST00000529992.1_Intron	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	100					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GCCAGAAAAGTTTATAGTAAA	0.358																																																	0													45	46	46					1																	99157106		2203	4299	6502	SO:0001583	missense	0			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"Sorting nexins"	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.490T>G	1.37:g.99157106T>G	ENSP00000304429:p.Phe164Val		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F164V	ENST00000306121.3	37	c.490	CCDS755.2	1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.695398	0.88830	.	.	ENSG00000162627	ENST00000370189;ENST00000306121;ENST00000454199	T;T;T	0.35789	1.29;1.29;1.29	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	N	0.21097	0.63	0.80722	D	1	P;D	0.54397	0.926;0.966	P;P	0.55391	0.775;0.775	T	0.04115	-1.0976	10	0.15499	T	0.54	-27.7318	15.5892	0.76512	0.0:0.0:0.0:1.0	.	164;100	Q9UNH6-3;Q9UNH6-2	.;.	V	100;164;100	ENSP00000359208:F100V;ENSP00000304429:F164V;ENSP00000388266:F100V	ENSP00000304429:F164V	F	+	1	0	SNX7	98929694	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.035000	0.88872	2.087000	0.62958	0.528000	0.53228	TTT	SNX7	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000162627		0.358	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX7	HGNC	protein_coding	OTTHUMT00000029609.2	-	0	51	0	T			99157106	1	tier1	-	no_errors	ENST00000306121	ensembl	human	known	74_37	missense	23.53	26	8	SNP	1.000	G	G	99157106	T	G	99157106	3	3	102	1	0	0	0	0	1	0	0	0	14952	1725	60	4	504	4	SNX7	1	99157106	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	38653394	99157106	150093515	8	28679											
ADAMTSL4	54507	genome.wustl.edu	37	chr1	150529724	150529724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatcccccagatgcccgccCcgccccatcccaggacaccc	7	3	8	23	2	0	1	0	0	0	1	2	3	2	3	9	2	1	0	9	2	0	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:150529724C>T	ENST00000369038.2	+	10	2161	c.1960C>T	c.(1960-1962)Ccg>Tcg	p.P654S	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.P654S|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.P654S|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P677S			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	654	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GATGCCCGCCCCGCCCCATCC	0.672																																																	0													20	21	21					1																	150529724		2203	4298	6501	SO:0001583	missense	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"thrombospondin repeat containing 1"	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1960C>T	1.37:g.150529724C>T	ENSP00000358034:p.Pro654Ser		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.P677S	ENST00000369038.2	37	c.2029	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680091	0.68042	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.62105	0.12;0.05;0.34;0.05	5.52	5.52	0.82312	.	.	.	.	.	T	0.59636	0.2208	L	0.49350	1.555	0.31415	N	0.675059	D;D;D	0.58268	0.957;0.982;0.98	P;P;P	0.56088	0.791;0.71;0.626	T	0.55835	-0.8078	9	0.26408	T	0.33	.	16.9419	0.86220	0.0:1.0:0.0:0.0	.	677;654;654	F8WAD0;Q6UY14;Q6UY14-2	.;ATL4_HUMAN;.	S	654;654;192;677;654	ENSP00000358037:P654S;ENSP00000271643:P654S;ENSP00000358035:P677S;ENSP00000358034:P654S	ENSP00000271643:P654S	P	+	1	0	ADAMTSL4	148796348	0.020000	0.18652	0.043000	0.18650	0.970000	0.65996	2.932000	0.48940	2.617000	0.88574	0.655000	0.94253	CCG	ADAMTSL4	-	NULL	ENSG00000143382		0.672	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	-	0	31	0	C	NM_019032		150529724	1	tier1	-	no_errors	ENST00000369039	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.510	T	T	150529724	C	T	150529724	3	4	102	1	0	0	0	0	1	0	0	0	277	623	22	3	1998	3	ADAMTSL4	1	150529724	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	51372618	150529724	98720897	9	28680											
FLG	2312	genome.wustl.edu	37	chr1	152279527	152279527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccatgaccagctctgTcttcttgatgggacctgggg	6	11	13	11	0	3	2	0	2	3	0	3	3	3	3	3	3	2	1	3	3	0	2	rs200423945	byFrequency	TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:152279527T>C	ENST00000368799.1	-	3	7870	c.7835A>G	c.(7834-7836)gAc>gGc	p.D2612G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2612	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGCTCTGTCTTCTTGATG	0.552									Ichthyosis																																								0													31	36	34					1																	152279527		2188	4271	6459	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7835A>G	1.37:g.152279527T>C	ENSP00000357789:p.Asp2612Gly		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.D2612G	ENST00000368799.1	37	c.7835	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	6.277	0.419155	0.11870	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	1.54	0.239	0.15484	.	.	.	.	.	T	0.00608	0.0020	M	0.70595	2.14	0.09310	N	1	P	0.51933	0.949	B	0.37304	0.246	T	0.43294	-0.9400	9	0.11485	T	0.65	.	3.7345	0.08506	0.3321:0.0:0.0:0.6679	.	2612	P20930	FILA_HUMAN	G	2612	ENSP00000357789:D2612G	ENSP00000357789:D2612G	D	-	2	0	FLG	150546151	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.023000	0.13533	0.040000	0.15660	0.254000	0.18369	GAC	FLG	-	NULL	ENSG00000143631		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	51	0	T	NM_002016		152279527	-1	tier1	rs200423945	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.000	C	C	152279527	T	C	152279527	3	2	102	1	0	0	0	0	1	0	0	0	5944	1667	58	4	4354	4	FLG	1	152279527	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	1749803	152279527	96971094	10	28681											
NEK7	140609	genome.wustl.edu	37	chr1	198288588	198288588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccagatccagagaagcGaccagacgtcacctatgttt	13	7	8	13	2	1	3	1	0	0	3	2	5	2	3	4	0	2	1	4	0	3	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:198288588G>T	ENST00000367385.4	+	10	1187	c.845G>T	c.(844-846)cGa>cTa	p.R282L	NEK7_ENST00000538004.1_Missense_Mutation_p.R282L	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	282	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CCAGAGAAGCGACCAGACGTC	0.393																																																	0													111	100	104					1																	198288588		2203	4300	6503	SO:0001583	missense	0			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.845G>T	1.37:g.198288588G>T	ENSP00000356355:p.Arg282Leu		A6NGT8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R282L	ENST00000367385.4	37	c.845	CCDS1394.1	1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992452	0.93167	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	T;T	0.80653	-1.4;-1.4	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine-threonine/tyrosine-protein kinase (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92776	0.7703	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94182	0.7433	10	0.87932	D	0	.	19.4923	0.95056	0.0:0.0:1.0:0.0	.	282	Q8TDX7	NEK7_HUMAN	L	282	ENSP00000356355:R282L;ENSP00000444621:R282L	ENSP00000356355:R282L	R	+	2	0	NEK7	196555211	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.497000	0.81536	2.607000	0.88179	0.650000	0.86243	CGA	NEK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000151414		0.393	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK7	HGNC	protein_coding	OTTHUMT00000086550.2		0	83	0	G	NM_133494		198288588	1			no_errors	ENST00000367385	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	198288588	G	T	198288588	3	4	102	1	0	0	0	0	1	0	0	0	10368	1058	37	2	879	2	NEK7	1	198288588	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	46009061	198288588	50962033	11	28682											
PLXNA2	5362	genome.wustl.edu	37	chr1	208213028	208213028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcagggagtagcgggcctCgcccgtgatggcatcaatgg	7	7	16	11	3	2	1	2	1	0	0	3	2	2	2	2	4	1	3	2	4	2	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:208213028C>T	ENST00000367033.3	-	24	5195	c.4438G>A	c.(4438-4440)Gag>Aag	p.E1480K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1480					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCGGGCCTCGCCCGTGATG	0.612																																																	0													88	84	86					1																	208213028		2203	4300	6503	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4438G>A	1.37:g.208213028C>T	ENSP00000356000:p.Glu1480Lys		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.E1480K	ENST00000367033.3	37	c.4438	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.278447	0.95459	.	.	ENSG00000076356	ENST00000367033	T	0.10668	2.85	5.51	5.51	0.81932	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.37507	1.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00500	-1.1703	10	0.41790	T	0.15	.	19.4545	0.94882	0.0:1.0:0.0:0.0	.	1480	O75051	PLXA2_HUMAN	K	1480	ENSP00000356000:E1480K	ENSP00000356000:E1480K	E	-	1	0	PLXNA2	206279651	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.825000	0.69286	2.590000	0.87494	0.650000	0.86243	GAG	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	46	0	C	NM_025179		208213028	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	T	T	208213028	C	T	208213028	3	4	102	1	0	0	0	0	1	0	0	0	12159	893	31	1	1282	1	PLXNA2	1	208213028	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	9924440	208213028	41037593	12	28683											
MARK1	4139	genome.wustl.edu	37	chr1	220791724	220791724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttagtaatgaatttacaGttgggaacaaattggacaca	15	13	9	4	0	0	1	0	1	0	0	0	3	0	3	0	2	2	3	0	2	6	7			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:220791724G>T	ENST00000366917.4	+	8	891	c.625G>T	c.(625-627)Gtt>Ttt	p.V209F	MARK1_ENST00000402574.1_Missense_Mutation_p.V74F|MARK1_ENST00000366918.4_Missense_Mutation_p.V187F					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGAATTTACAGTTGGGAACAA	0.393																																																	0													58	61	60					1																	220791724		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.625G>T	1.37:g.220791724G>T	ENSP00000355884:p.Val209Phe			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.V209F	ENST00000366917.4	37	c.625	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992501	0.35131	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.65549	-0.16;-0.16;-0.16	5.32	3.42	0.39159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.352176	0.29775	N	0.011233	T	0.39809	0.1092	N	0.19112	0.55	0.58432	D	0.999996	B;B;B;B	0.12630	0.004;0.006;0.002;0.0	B;B;B;B	0.17979	0.02;0.003;0.004;0.009	T	0.18461	-1.0336	10	0.09084	T	0.74	.	8.4161	0.32672	0.2702:0.0:0.7298:0.0	.	209;74;209;187	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	F	74;187;209	ENSP00000386017:V74F;ENSP00000355885:V187F;ENSP00000355884:V209F	ENSP00000355884:V209F	V	+	1	0	MARK1	218858347	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.355000	0.34068	2.488000	0.83962	0.650000	0.86243	GTT	MARK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000116141		0.393	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1		0	63	0	G			220791724	1			no_errors	ENST00000366917	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.983	T	T	220791724	G	T	220791724	3	4	102	1	0	0	0	0	1	0	0	0	9350	1029	36	3	655	3	MARK1	1	220791724	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	12578696	220791724	28458897	13	28684											
OR14A16	284532	genome.wustl.edu	37	chr1	247978881	247978881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgggggtgtggagatgatGgtccaaagttgtgatcatga	10	10	16	5	1	1	4	1	3	0	1	2	5	2	4	1	4	0	1	1	4	1	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr1:247978881G>A	ENST00000357627.1	-	1	150	c.151C>T	c.(151-153)Cat>Tat	p.H51Y		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGGAGATGATGGTCCAAAGTT	0.393																																					Ovarian(112;180 1586 15073 21914 33526)												0													81	79	80					1																	247978881		2203	4300	6503	SO:0001583	missense	0			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"GPCR / Class A : Olfactory receptors"	15022	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AT, member 1"	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.151C>T	1.37:g.247978881G>A	ENSP00000350248:p.His51Tyr		Q6IF96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H51Y	ENST00000357627.1	37	c.151	CCDS31097.1	1	.	.	.	.	.	.	.	.	.	.	G	3.405	-0.121483	0.06838	.	.	ENSG00000196772	ENST00000357627	T	0.01076	5.37	3.51	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.706038	0.12138	U	0.496171	T	0.01124	0.0037	L	0.31476	0.935	0.09310	N	1	B	0.27166	0.17	B	0.17722	0.019	T	0.47100	-0.9143	10	0.21540	T	0.41	.	11.8228	0.52250	0.0:0.0:0.604:0.396	.	51	Q8NHC5	O14AG_HUMAN	Y	51	ENSP00000350248:H51Y	ENSP00000350248:H51Y	H	-	1	0	OR14A16	246045504	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	-0.264000	0.08658	0.821000	0.34540	0.590000	0.80494	CAT	OR14A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196772		0.393	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR14A16	HGNC	protein_coding	OTTHUMT00000096856.1	-	0	23	0	G	NM_001001966		247978881	-1	tier1	-	no_errors	ENST00000357627	ensembl	human	known	74_37	missense	26.32	14	5	SNP	0.004	A	A	247978881	G	A	247978881	3	1	102	1	0	0	0	0	1	0	0	0	10984	1348	47	3	782	3	OR14A16	1	247978881	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	27187157	247978881	1271740	14	28685											
YSK4	80122	genome.wustl.edu	37	chr2	135749143	135749143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtacttcatatgagaggtCgaaaactctacaacaagaaa	17	9	7	8	1	2	2	1	1	1	2	3	4	2	2	0	1	4	1	0	1	8	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr2:135749143C>T	ENST00000375845.3	-	6	612	c.582G>A	c.(580-582)tcG>tcA	p.S194S	MAP3K19_ENST00000392917.3_Silent_p.S194S|MAP3K19_ENST00000358371.4_Silent_p.S81S|MAP3K19_ENST00000375844.3_Silent_p.S194S|MAP3K19_ENST00000392918.3_Silent_p.S194S|MAP3K19_ENST00000392915.1_Silent_p.S211S|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	194							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TATGAGAGGTCGAAAACTCTA	0.358																																																	0													80	81	81					2																	135749143		2203	4300	6503	SO:0001819	synonymous_variant	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	26249	protein-coding gene	gene with protein product			"Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)", "YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.582G>A	2.37:g.135749143C>T			B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S194	ENST00000375845.3	37	c.582	CCDS2176.2	2																																																																																			MAP3K19	-	NULL	ENSG00000176601		0.358	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1		0	40	0	C	NM_025052		135749143	-1			no_errors	ENST00000375845	ensembl	human	known	74_37	silent	5.71	32	2	SNP	0.005	T	T	135749143	C	T	135749143	2	4	102	1	0	0	0	0	0	0	0	1	17544	871	31	1		1	YSK4	2	135749143	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		135749143	107450230	15	28686											
PHOSPHO2	493911	genome.wustl.edu	37	chr2	170557861	170557862	+	Frame_Shift_Ins	INS	-	-	T																															gtgtttacaaatccagcagcINSttttaatagcaatggtcatc																										TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr2:170557861_170557862insT	ENST00000359744.3	+	4	768_769	c.380_381insT	c.(379-384)gcttttfs	p.AF127fs	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	127							metal ion binding (GO:0046872)|pyridoxal phosphatase activity (GO:0033883)			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						AATCCAGCAGCTTTTAATAGCA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			BC022324	CCDS33319.1	2q31.1	2008-02-05			ENSG00000144362	ENSG00000144362			28316	protein-coding gene	gene with protein product						16054448	Standard	NM_001199285		Approved	MGC22679	uc021vsh.1	Q8TCD6	OTTHUMG00000153981	ENST00000359744.3:c.384dupT	2.37:g.170557865_170557865dupT	ENSP00000352782:p.Ala127fs		B2RC30|D3DPC7	Frame_Shift_Ins	INS	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	p.N129fs	ENST00000359744.3	37	c.380_381	CCDS33319.1	2																																																																																			PHOSPHO2	-	pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like	ENSG00000144362		0.322	PHOSPHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOSPHO2	HGNC	protein_coding	OTTHUMT00000333304.1		0	37	0	-	NM_001008489		170557862	1	tier1		no_errors	ENST00000359744	ensembl	human	known	74_37	frame_shift_ins	33.33	14	7	INS	0.815:0.819	T	T	170557862	-	T	170557861	7	5	102	1	0	1	1	0	0	0	0	0	11896	797	28	0	382	0	PHOSPHO2	2	170557861	Frame_Shift_Ins	INS	-	TCGA-LN-A49O-01A-11D-A247-09	34808718	170557861	72641512	16	28687											
SSFA2	6744	genome.wustl.edu	37	chr2	182774683	182774683	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacttaccagctaggtcttAcgaagtcgaaaagaggtaag	14	8	10	9	2	1	1	0	0	1	1	2	3	1	1	2	2	3	2	2	2	7	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr2:182774683A>T	ENST00000431877.2	+	9	1650	c.1471A>T	c.(1471-1473)Acg>Tcg	p.T491S	SSFA2_ENST00000320370.7_Missense_Mutation_p.T491S|SSFA2_ENST00000428267.2_Missense_Mutation_p.T338S|SSFA2_ENST00000409136.1_5'Flank|SSFA2_ENST00000409001.1_Missense_Mutation_p.T491S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	491						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T491A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCTAGGTCTTACGAAGTCGAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											66	57	60					2																	182774683		2203	4300	6503	SO:0001583	missense	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1471A>T	2.37:g.182774683A>T	ENSP00000388731:p.Thr491Ser		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.T491S	ENST00000431877.2	37	c.1471	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	A	8.583	0.882778	0.17467	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.14266	2.75;2.52;2.75;2.76	5.98	2.4	0.29515	.	0.563870	0.19375	N	0.115818	T	0.13243	0.0321	L	0.54323	1.7	0.19575	N	0.999964	B;B;B;B	0.27068	0.167;0.167;0.167;0.167	B;B;B;B	0.28011	0.085;0.053;0.053;0.085	T	0.17319	-1.0373	10	0.44086	T	0.13	0.0	7.441	0.27183	0.7415:0.0:0.2585:0.0	.	338;491;491;491	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	S	491;491;491;338	ENSP00000388731:T491S;ENSP00000314669:T491S;ENSP00000387319:T491S;ENSP00000409867:T338S	ENSP00000314669:T491S	T	+	1	0	SSFA2	182482928	0.009000	0.17119	0.032000	0.17829	0.269000	0.26545	1.379000	0.34340	0.518000	0.28383	0.482000	0.46254	ACG	SSFA2	-	NULL	ENSG00000138434		0.383	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2		0	65	0	A	NM_006751		182774683	1			no_errors	ENST00000431877	ensembl	human	known	74_37	missense	5.26	35	2	SNP	0.538	T	T	182774683	A	T	182774683	3	4	102	1	0	0	0	0	1	0	0	0	15230	391	14	5	1505	5	SSFA2	2	182774683	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	12216822	182774683	60424690	17	28688											
SCN11A	11280	genome.wustl.edu	37	chr3	38888583	38888583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatatttatttggctttgCgacacgcaaaggctcaggca	10	13	10	8	2	1	1	1	1	0	0	1	2	1	1	0	3	1	4	0	3	3	6	rs564668486		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:38888583C>T	ENST00000302328.3	-	26	5176	c.4978G>A	c.(4978-4980)Gca>Aca	p.A1660T	SCN11A_ENST00000456224.3_Missense_Mutation_p.A1622T|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1660T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1660					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTGGCTTTGCGACACGCAAA	0.438													C|||	1	0.000199681	0	0.0014	5008	,	,		22450	0		0	False		,,,				2504	0																0													91	94	93					3																	38888583		2203	4300	6503	SO:0001583	missense	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10583	protein-coding gene	gene with protein product		604385	"sodium channel, voltage-gated, type XI, alpha polypeptide", "sodium channel, voltage-gated, type XII, alpha"	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4978G>A	3.37:g.38888583C>T	ENSP00000307599:p.Ala1660Thr		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.A1660T	ENST00000302328.3	37	c.4978	CCDS33737.1	3	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782624	0.49891	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96232	-3.95;-3.95;-3.91	5.27	2.12	0.27331	.	0.239727	0.42682	D	0.000680	D	0.95884	0.8660	M	0.82823	2.61	0.35073	D	0.762673	D	0.57571	0.98	B	0.42882	0.401	D	0.98395	1.0565	10	0.72032	D	0.01	.	16.3774	0.83410	0.0:0.5977:0.4022:0.0	.	1660	Q9UI33	SCNBA_HUMAN	T	1660;1660;1622	ENSP00000307599:A1660T;ENSP00000400945:A1660T;ENSP00000416757:A1622T	ENSP00000307599:A1660T	A	-	1	0	SCN11A	38863587	0.084000	0.21492	0.841000	0.33234	0.898000	0.52572	0.219000	0.17641	1.161000	0.42604	0.650000	0.86243	GCA	SCN11A	-	NULL	ENSG00000168356		0.438	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4	-	0	60	0	C	NM_014139		38888583	-1	tier1	-	no_errors	ENST00000302328	ensembl	human	known	74_37	missense	80.95	4	17	SNP	0.811	T	T	38888583	C	T	38888583	3	4	102	1	0	0	0	0	1	0	0	0	13958	768	27	1	401	1	SCN11A	3	38888583	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		38888583	159133847	18	28689											
PPP4R2	151987	genome.wustl.edu	37	chr3	73096461	73096461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgaatatattccctttGatgaaatgaaggaaagaata	17	12	8	4	1	0	4	0	3	0	1	2	6	1	5	1	1	0	0	1	1	8	5			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:73096461G>T	ENST00000356692.5	+	3	494	c.241G>T	c.(241-243)Gat>Tat	p.D81Y	PPP4R2_ENST00000295862.9_Missense_Mutation_p.D25Y|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	81					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)	p.D81H(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TATTCCCTTTGATGAAATGAA	0.338																																																	1	Substitution - Missense(1)	breast(1)											60	66	64					3																	73096461		2203	4300	6503	SO:0001583	missense	0			AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.241G>T	3.37:g.73096461G>T	ENSP00000349124:p.Asp81Tyr		A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	pfam_PPP4R2	p.D81Y	ENST00000356692.5	37	c.241	CCDS2917.1	3	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693993	0.88735	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000295862;ENST00000476505	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.48	5.48	0.80851	.	0.102153	0.64402	D	0.000003	T	0.66548	0.2800	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.68172	-0.5479	10	0.72032	D	0.01	.	19.3579	0.94422	0.0:0.0:1.0:0.0	.	81	Q9NY27	PP4R2_HUMAN	Y	81;81;25;43	ENSP00000349124:D81Y;ENSP00000418750:D81Y;ENSP00000295862:D25Y;ENSP00000420098:D43Y	ENSP00000295862:D25Y	D	+	1	0	PPP4R2	73179151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.576000	0.86940	0.557000	0.71058	GAT	PPP4R2	-	pfam_PPP4R2	ENSG00000163605		0.338	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R2	HGNC	protein_coding	OTTHUMT00000352321.1		0	49	0	G	NM_174907		73096461	1			no_errors	ENST00000356692	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T	T	73096461	G	T	73096461	3	4	102	1	0	0	0	0	1	0	0	0	12446	1290	45	3	251	3	PPP4R2	3	73096461	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	34207878	73096461	124925969	19	28690											
MORC1	27136	genome.wustl.edu	37	chr3	108723734	108723734	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatattagcaatctgacttCtctttcaaaacagagaatac	16	13	4	8	0	3	2	1	1	2	1	4	3	3	2	0	0	3	1	0	0	8	6			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:108723734C>G	ENST00000483760.1	-	19	1995	c.1952G>C	c.(1951-1953)aGa>aCa	p.R651T	MORC1_ENST00000232603.5_Splice_Site_p.R672T					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATCTGACTTCTCTTTCAAAA	0.343																																																	0													125	139	134					3																	108723734		2203	4300	6503	SO:0001630	splice_region_variant	0			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"cancer/testis antigen 33"	603205	"microrchidia (mouse) homolog", "microrchidia homolog (mouse)"	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1951-1G>C	3.37:g.108723734C>G				Missense_Mutation	SNP	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.R672T	ENST00000483760.1	37	c.2015		3	.	.	.	.	.	.	.	.	.	.	C	0.675	-0.800352	0.02841	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06068	3.4;3.35	4.13	0.413	0.16401	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.14023	0.01;0.01	T	0.49103	-0.8974	9	0.12430	T	0.62	0.4096	6.3417	0.21327	0.0:0.3099:0.0:0.6901	.	651;672	E7ERX1;Q86VD1	.;MORC1_HUMAN	T	672;651	ENSP00000232603:R672T;ENSP00000417282:R651T	ENSP00000232603:R672T	R	-	2	0	MORC1	110206424	0.075000	0.21258	0.006000	0.13384	0.150000	0.21749	1.043000	0.30316	0.068000	0.16574	-0.606000	0.04082	AGA	MORC1	-	NULL	ENSG00000114487		0.343	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	-	0	36	0	C		Missense_Mutation	108723734	-1	tier1	-	no_errors	ENST00000232603	ensembl	human	known	74_37	missense	42.50	23	17	SNP	0.009	G	G	108723734	C	G	108723734	5	3	102	1	0	0	0	0	0	0	1	0	9739	927	32	5	975	5	MORC1	3	108723734	Splice_Site	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	35627273	108723734	89298696	20	28691											
ARHGAP31	57514	genome.wustl.edu	37	chr3	119101244	119101244	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgggcgccaaacctcctCaggtaaccactctaccctcc	8	8	8	17	1	2	0	1	0	1	0	4	0	4	0	6	2	3	1	6	2	3	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:119101244C>G	ENST00000264245.4	+	5	1069	c.537C>G	c.(535-537)ctC>ctG	p.L179L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	179	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.L179L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CAAACCTCCTCAGGTAACCAC	0.557																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - coding silent(1)	breast(1)											53	62	59					3																	119101244		1931	4126	6057	SO:0001819	synonymous_variant	0				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"Rho GTPase activating proteins"	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.537C>G	3.37:g.119101244C>G			Q9ULL6	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L179	ENST00000264245.4	37	c.537	CCDS43135.1	3																																																																																			ARHGAP31	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000031081		0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	-	0	40	0	C			119101244	1	tier1	-	no_errors	ENST00000264245	ensembl	human	known	74_37	silent	40.43	28	19	SNP	1.000	G	G	119101244	C	G	119101244	2	3	102	1	0	0	0	0	0	0	0	1	880	813	29	5		5	ARHGAP31	3	119101244	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	10377510	119101244	78921186	21	28692											
SLC15A2	6565	genome.wustl.edu	37	chr3	121634493	121634493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttttggagaagactgctAtgcattggcttttggagttc	8	16	12	5	0	0	2	0	0	0	2	1	4	0	3	0	3	2	5	0	3	2	7			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:121634493A>G	ENST00000489711.1	+	7	1038	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.Y186C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	217					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GAAGACTGCTATGCATTGGCT	0.393																																																	0													187	170	176					3																	121634493		2203	4300	6503	SO:0001583	missense	0			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"Solute carriers"	10921	protein-coding gene	gene with protein product		602339	"solute carrier family 15 (H+/peptide transporter), member 2"			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.650A>G	3.37:g.121634493A>G	ENSP00000417085:p.Tyr217Cys		A8K1A5|B4E2A7	Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.Y217C	ENST00000489711.1	37	c.650	CCDS3007.1	3	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557612	0.86231	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.59638	0.25;0.25	5.93	5.93	0.95920	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81351	0.4804	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85820	0.1385	10	0.87932	D	0	-12.8823	14.3286	0.66537	1.0:0.0:0.0:0.0	.	186;217	B4E2A7;Q16348	.;S15A2_HUMAN	C	217;179;186	ENSP00000417085:Y217C;ENSP00000295605:Y186C	ENSP00000295605:Y186C	Y	+	2	0	SLC15A2	123117183	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.829000	0.75314	2.263000	0.75096	0.533000	0.62120	TAT	SLC15A2	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	ENSG00000163406		0.393	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	-	0	60	0	A	NM_021082		121634493	1	tier1	-	no_errors	ENST00000489711	ensembl	human	known	74_37	missense	36.07	39	22	SNP	1.000	G	G	121634493	A	G	121634493	3	3	102	1	0	0	0	0	1	0	0	0	14444	449	16	4	676	4	SLC15A2	3	121634493	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	2533249	121634493	76387937	22	28693											
KPNA4	3840	genome.wustl.edu	37	chr3	160227638	160227638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttatggcccaagcagcttCtttttgagtgccaaaatccc	10	12	7	12	0	1	1	0	1	1	0	2	1	2	1	3	1	3	2	3	1	4	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:160227638C>T	ENST00000334256.4	-	14	1464	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	387	NLS binding site (minor). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CAAGCAGCTTCTTTTTGAGTG	0.323																																																	0													132	136	134					3																	160227638		2203	4300	6503	SO:0001583	missense	0			AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"Importins", "Armadillo repeat containing"	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1159G>A	3.37:g.160227638C>T	ENSP00000334373:p.Glu387Lys		A8K4S6|D3DNM2|O00190	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.E387K	ENST00000334256.4	37	c.1159	CCDS3191.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.270759	0.95429	.	.	ENSG00000186432	ENST00000334256	T	0.72505	-0.66	5.0	5.0	0.66597	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91216	0.7232	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94941	0.8091	10	0.87932	D	0	-4.4495	17.6453	0.88147	0.0:1.0:0.0:0.0	.	387	O00629	IMA4_HUMAN	K	387	ENSP00000334373:E387K	ENSP00000334373:E387K	E	-	1	0	KPNA4	161710332	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.582000	0.82546	2.496000	0.84212	0.305000	0.20034	GAA	KPNA4	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000186432		0.323	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA4	HGNC	protein_coding	OTTHUMT00000352960.1	-	0	56	0	C	NM_002268		160227638	-1	tier1	-	no_errors	ENST00000334256	ensembl	human	known	74_37	missense	16.95	49	10	SNP	1.000	T	T	160227638	C	T	160227638	3	4	102	1	0	0	0	0	1	0	0	0	8459	922	32	3	422	3	KPNA4	3	160227638	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	38593145	160227638	37794792	23	28694											
SI	6476	genome.wustl.edu	37	chr3	164783108	164783108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccaggataaatcatgacGaaatctcttatgaacttgtt	13	15	6	7	1	2	2	1	2	1	0	4	4	3	3	1	1	1	1	1	1	5	5	rs200745562		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:164783108G>A	ENST00000264382.3	-	7	810	c.748C>T	c.(748-750)Cgt>Tgt	p.R250C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	250	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.R250C(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AAATCATGACGAAATCTCTTA	0.343										HNSCC(35;0.089)																																							2	Substitution - Missense(2)	ovary(1)|large_intestine(1)											76	75	75					3																	164783108		2203	4300	6503	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.748C>T	3.37:g.164783108G>A	ENSP00000264382:p.Arg250Cys		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.R250C	ENST00000264382.3	37	c.748	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035583	0.75617	.	.	ENSG00000090402	ENST00000264382	D	0.90955	-2.76	5.9	5.9	0.94986	Glycoside hydrolase-type carbohydrate-binding (1);	0.105792	0.64402	D	0.000003	D	0.97049	0.9036	H	0.97540	4.025	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.97789	1.0237	10	0.72032	D	0.01	.	14.5224	0.67859	0.0:0.0:0.7337:0.2663	.	250	P14410	SUIS_HUMAN	C	250	ENSP00000264382:R250C	ENSP00000264382:R250C	R	-	1	0	SI	166265802	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.105000	0.57797	2.788000	0.95919	0.650000	0.86243	CGT	SI	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000090402		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0	45	0	G	NM_001041		164783108	-1	tier1	rs200745562	no_errors	ENST00000264382	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.998	A	A	164783108	G	A	164783108	3	1	102	1	0	0	0	0	1	0	0	0	14342	1058	37	1	4903	1	SI	3	164783108	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	4555470	164783108	33239322	24	28695											
MFN1	55669	genome.wustl.edu	37	chr3	179069778	179069778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacaagctttccatcattgGtgaggtgctatctcggagac	10	11	11	9	1	2	3	1	1	1	2	4	4	3	3	1	3	2	2	1	3	2	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr3:179069778G>A	ENST00000471841.1	+	3	329	c.203G>A	c.(202-204)gGt>gAt	p.G68D	MFN1_ENST00000280653.7_Missense_Mutation_p.G68D|MFN1_ENST00000263969.5_Missense_Mutation_p.G68D	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	68					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCCATCATTGGTGAGGTGCTA	0.378																																																	0													167	167	167					3																	179069778		2203	4300	6503	SO:0001583	missense	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.203G>A	3.37:g.179069778G>A	ENSP00000420617:p.Gly68Asp		B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.G68D	ENST00000471841.1	37	c.203	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677566	0.29783	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000467174;ENST00000263969	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	5.16	3.31	0.37934	.	0.261022	0.44902	D	0.000402	D	0.95156	0.8430	L	0.59436	1.845	0.47584	D	0.999462	D;D	0.59767	0.986;0.986	P;P	0.53062	0.717;0.717	D	0.92564	0.6060	10	0.15499	T	0.54	-11.7381	15.5978	0.76599	0.0:0.261:0.739:0.0	.	96;68	Q4AEJ4;Q8IWA4	.;MFN1_HUMAN	D	68	ENSP00000420617:G68D;ENSP00000280653:G68D;ENSP00000419134:G68D;ENSP00000263969:G68D	ENSP00000263969:G68D	G	+	2	0	MFN1	180552472	1.000000	0.71417	0.998000	0.56505	0.542000	0.35054	4.224000	0.58593	0.646000	0.30693	-0.463000	0.05309	GGT	MFN1	-	superfamily_P-loop_NTPase	ENSG00000171109		0.378	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	-	0	85	0	G	NM_017927		179069778	1	tier1	-	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	39.73	44	29	SNP	0.997	A	A	179069778	G	A	179069778	3	1	102	1	0	0	0	0	1	0	0	0	9561	1261	44	3	209	3	MFN1	3	179069778	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	14286670	179069778	18952652	25	28696											
DCAF16	54876	genome.wustl.edu	37	chr4	17805701	17805701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctcatttaggtaactaaTattttcttcttcctcacttt	9	20	2	10	0	4	0	2	0	3	0	6	0	5	0	1	1	1	1	1	1	4	10	rs184417488		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr4:17805701T>C	ENST00000382247.1	-	3	1124	c.64A>G	c.(64-66)Att>Gtt	p.I22V	DCAF16_ENST00000536863.1_Missense_Mutation_p.I22V|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	22					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						AGGTAACTAATATTTTCTTCT	0.433																																																	0													53	56	55					4																	17805701		2203	4300	6503	SO:0001583	missense	0			AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"DDB1 and CUL4 associated factors"	25987	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 30"	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.64A>G	4.37:g.17805701T>C	ENSP00000371682:p.Ile22Val		B3KPB7	Missense_Mutation	SNP	NULL	p.I22V	ENST00000382247.1	37	c.64	CCDS3423.1	4	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.374173	0.01214	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.28454	1.61;1.61	3.78	-2.72	0.05968	.	.	.	.	.	T	0.12050	0.0293	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23476	-1.0187	9	0.87932	D	0	-0.9114	0.8676	0.01207	0.1873:0.1843:0.1598:0.4686	.	22	Q9NXF7	DCA16_HUMAN	V	22	ENSP00000371682:I22V;ENSP00000445736:I22V	ENSP00000371682:I22V	I	-	1	0	DCAF16	17414799	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.593000	0.05740	-0.530000	0.06349	0.459000	0.35465	ATT	DCAF16	-	NULL	ENSG00000163257		0.433	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF16	HGNC	protein_coding	OTTHUMT00000250371.1	-	0	28	0	T	NM_017741		17805701	-1	tier1	-	no_errors	ENST00000382247	ensembl	human	known	74_37	missense	56.52	10	13	SNP	0.000	C	C	17805701	T	C	17805701	3	2	102	1	0	0	0	0	1	0	0	0	4277	1406	49	4	590	4	DCAF16	4	17805701	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09		17805701	173348575	26	28697											
LNX1	84708	genome.wustl.edu	37	chr4	54362373	54362373	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattccaagctgctcctcGgggctacttttgttgagaat	7	16	9	9	1	0	1	0	1	0	1	3	2	2	1	2	2	3	4	2	2	4	7	rs140094412	byFrequency	TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr4:54362373G>T	ENST00000263925.7	-	6	1481	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	LNX1_ENST00000306888.2_Silent_p.P293P|LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	389	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCTGCTCCTCGGGGCTACTTT	0.532																																																	0													105	102	103					4																	54362373		2203	4300	6503	SO:0001819	synonymous_variant	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1167C>A	4.37:g.54362373G>T			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.P389	ENST00000263925.7	37	c.1167	CCDS47057.1	4																																																																																			LNX1	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000072201		0.532	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	-	0	74	0	G			54362373	-1	tier1	-	no_errors	ENST00000263925	ensembl	human	known	74_37	silent	5.88	64	4	SNP	0.001	T	T	54362373	G	T	54362373	2	4	102	1	0	0	0	0	0	0	0	1	8895	1103	39	2		2	LNX1	4	54362373	Silent	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	36556672	54362373	136791903	27	28698											
ANKRD56	345079	genome.wustl.edu	37	chr4	77816698	77816698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttccacttgttgtgctGacttttgagtagtgcagcga	7	15	11	8	1	0	2	0	2	0	0	1	3	1	2	1	0	3	5	1	0	1	6			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr4:77816698G>T	ENST00000334306.2	-	1	2304	c.2305C>A	c.(2305-2307)Cag>Aag	p.Q769K		NM_001029870.1	NP_001025041.1	A6NEL2	SWAHB_HUMAN	sosondowah ankyrin repeat domain family member B	769																	TTGTTGTGCTGACTTTTGAGT	0.463																																																	0													267	248	255					4																	77816698		2203	4300	6503	SO:0001583	missense	0				CCDS34017.1	4q21.1	2013-01-10	2012-01-12	2012-01-12	ENSG00000186212	ENSG00000186212		"Ankyrin repeat domain containing"	32958	protein-coding gene	gene with protein product			"ankyrin repeat domain 56"	ANKRD56		22234889	Standard	NM_001029870		Approved		uc003hki.3	A6NEL2	OTTHUMG00000160876	ENST00000334306.2:c.2305C>A	4.37:g.77816698G>T	ENSP00000334879:p.Gln769Lys		B2RP29	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q769K	ENST00000334306.2	37	c.2305	CCDS34017.1	4	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741783	0.69304	.	.	ENSG00000186212	ENST00000334306	T	0.11930	2.73	5.5	5.5	0.81552	.	0.135159	0.32258	U	0.006347	T	0.28764	0.0713	L	0.44542	1.39	0.38976	D	0.958855	D	0.76494	0.999	P	0.60609	0.877	T	0.00619	-1.1641	10	0.66056	D	0.02	-17.339	18.332	0.90272	0.0:0.0:1.0:0.0	.	769	A6NEL2	ANR56_HUMAN	K	769	ENSP00000334879:Q769K	ENSP00000334879:Q769K	Q	-	1	0	ANKRD56	78035722	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	4.279000	0.58953	2.861000	0.98227	0.655000	0.94253	CAG	SOWAHB	-	NULL	ENSG00000186212		0.463	SOWAHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOWAHB	HGNC	protein_coding	OTTHUMT00000362762.1	-	0	111	0	G	NM_001029870		77816698	-1	tier1	-	no_errors	ENST00000334306	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	77816698	G	T	77816698	3	4	102	1	0	0	0	0	1	0	0	0	682	1299	45	3	80	3	ANKRD56	4	77816698	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	23454325	77816698	113337578	28	28699											
FAM190A	401145	genome.wustl.edu	37	chr4	91230145	91230145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtggatgtaacagaacGggcaggaagctctttacaat	12	11	11	7	1	2	1	0	0	2	1	2	3	2	3	0	3	4	3	0	3	5	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr4:91230145G>T	ENST00000509176.1	+	2	998	c.710G>T	c.(709-711)cGg>cTg	p.R237L	CCSER1_ENST00000432775.2_Missense_Mutation_p.R237L|CCSER1_ENST00000333691.8_Missense_Mutation_p.R237L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	237																	GTAACAGAACGGGCAGGAAGC	0.428																																																	0													68	65	66					4																	91230145		1873	4108	5981	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"family with sequence similarity 190, member A"	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.710G>T	4.37:g.91230145G>T	ENSP00000425040:p.Arg237Leu		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.R237L	ENST00000509176.1	37	c.710	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	10.52	1.371897	0.24857	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.42513	1.52;0.97;1.52	4.94	-0.309	0.12769	.	0.949186	0.08770	N	0.896393	T	0.26011	0.0634	L	0.40543	1.245	0.09310	N	1	B;B;B	0.31193	0.312;0.003;0.015	B;B;B	0.22753	0.041;0.002;0.003	T	0.19582	-1.0301	10	0.40728	T	0.16	0.2409	1.4476	0.02367	0.2062:0.1216:0.4218:0.2504	.	237;237;237	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	237	ENSP00000425040:R237L;ENSP00000389283:R237L;ENSP00000329482:R237L	ENSP00000329482:R237L	R	+	2	0	FAM190A	91449168	0.084000	0.21492	0.308000	0.25141	0.977000	0.68977	1.554000	0.36266	-0.210000	0.10140	0.655000	0.94253	CGG	CCSER1	-	NULL	ENSG00000184305		0.428	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0	35	0	G	NM_001145065		91230145	1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.026	T	T	91230145	G	T	91230145	3	4	102	1	0	0	0	0	1	0	0	0	5540	1116	39	2	712	2	FAM190A	4	91230145	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	13413447	91230145	99924131	29	28700											
SLC7A11	23657	genome.wustl.edu	37	chr4	139103481	139103481	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagctggtagaggagtgtgCttgcggacatgaatcatgga	11	9	15	6	1	1	2	1	1	0	1	1	5	1	5	0	4	3	3	0	4	2	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr4:139103481C>A	ENST00000280612.5	-	9	1365	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	362					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	GAGGAGTGTGCTTGCGGACAT	0.408																																																	0													99	102	101					4																	139103481		2203	4300	6503	SO:0001583	missense	0			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"Solute carriers"	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1086G>T	4.37:g.139103481C>A	ENSP00000280612:p.Lys362Asn		A8K2U4	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.K362N	ENST00000280612.5	37	c.1086	CCDS3742.1	4	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916116	0.52546	.	.	ENSG00000151012	ENST00000280612	D	0.89552	-2.53	5.48	4.55	0.56014	Amino acid permease domain (1);	0.045456	0.85682	D	0.000000	T	0.81158	0.4764	N	0.25201	0.72	0.38989	D	0.95911	B	0.21821	0.061	B	0.22152	0.038	T	0.77197	-0.2676	10	0.49607	T	0.09	.	10.2257	0.43225	0.0:0.8388:0.0:0.1612	.	362	Q9UPY5	XCT_HUMAN	N	362	ENSP00000280612:K362N	ENSP00000280612:K362N	K	-	3	2	SLC7A11	139322931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.791000	0.38744	1.153000	0.42468	0.655000	0.94253	AAG	SLC7A11	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	ENSG00000151012		0.408	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	-	0	58	0	C			139103481	-1	tier1	-	no_errors	ENST00000280612	ensembl	human	known	74_37	missense	61.54	10	16	SNP	1.000	A	A	139103481	C	A	139103481	3	1	102	1	0	0	0	0	1	0	0	0	14739	796	28	3	435	3	SLC7A11	4	139103481	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	47873336	139103481	52050795	30	28701											
GRAMD3	65983	genome.wustl.edu	37	chr5	125821384	125821384	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcccaacaggtctgtCagaaactgttggaatcttac	10	13	7	11	0	3	1	1	0	2	1	5	2	5	2	2	2	3	1	2	2	4	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr5:125821384C>A	ENST00000285689.3	+	11	1438	c.977C>A	c.(976-978)tCa>tAa	p.S326*	GRAMD3_ENST00000542322.1_Nonsense_Mutation_p.S334*|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000515200.1_Nonsense_Mutation_p.S304*|GRAMD3_ENST00000511134.1_Nonsense_Mutation_p.S310*|GRAMD3_ENST00000543198.1_Nonsense_Mutation_p.S304*|GRAMD3_ENST00000502348.1_Nonsense_Mutation_p.S217*|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000544396.1_Nonsense_Mutation_p.S222*|GRAMD3_ENST00000513040.1_Nonsense_Mutation_p.S341*	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	326						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ACAGGTCTGTCAGAAACTGTT	0.353																																																	0													118	110	113					5																	125821384		2203	4300	6503	SO:0001587	stop_gained	0			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"HCV NS3 transactivated protein 2"					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.977C>A	5.37:g.125821384C>A	ENSP00000285689:p.Ser326*		B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.S334*	ENST00000285689.3	37	c.1001	CCDS4136.1	5	.	.	.	.	.	.	.	.	.	.	C	39	7.543966	0.98348	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	.	.	.	6.07	4.23	0.50019	.	0.825894	0.11378	N	0.570106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4553	0.38751	0.0:0.8293:0.0:0.1707	.	.	.	.	X	341;326;304;334;222;304;217;310	.	ENSP00000285689:S326X	S	+	2	0	GRAMD3	125849283	0.841000	0.29509	1.000000	0.80357	0.678000	0.39670	1.677000	0.37576	1.495000	0.48549	0.655000	0.94253	TCA	GRAMD3	-	NULL	ENSG00000155324		0.353	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD3	HGNC	protein_coding	OTTHUMT00000250922.2	-	0	67	0	C	NM_023927		125821384	1	tier1	-	no_errors	ENST00000542322	ensembl	human	known	74_37	nonsense	53.23	29	33	SNP	0.997	A	A	125821384	C	A	125821384	4	1	102	1	0	0	0	0	0	1	0	0	6778	838	29	3	1233	3	GRAMD3	5	125821384	Nonsense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		125821384	55093876	31	28702											
PCDHB3	56132	genome.wustl.edu	37	chr5	140482555	140482555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagccaattatccccaacttCgttgctcagggtgcagagag	11	9	10	11	1	1	1	1	0	0	1	3	2	2	1	3	1	4	3	3	1	4	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr5:140482555C>T	ENST00000231130.2	+	1	2322	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	774					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507																																																	0													78	81	80					5																	140482555		2202	4297	6499	SO:0001819	synonymous_variant	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.2322C>T	5.37:g.140482555C>T			B2R8P2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F774	ENST00000231130.2	37	c.2322	CCDS4245.1	5																																																																																			PCDHB3	-	NULL	ENSG00000113205		0.507	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	-	0	77	0	C	NM_018937		140482555	1	tier1	-	no_errors	ENST00000231130	ensembl	human	known	74_37	silent	65.52	20	38	SNP	0.000	T	T	140482555	C	T	140482555	2	4	102	1	0	0	0	0	0	0	0	1	11582	883	31	1		1	PCDHB3	5	140482555	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	14661171	140482555	40432705	32	28703											
CSF1R	1436	genome.wustl.edu	37	chr5	149449523	149449523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggttgtgctctaaggtctCaacagtcagcaggctctgca	8	12	11	10	0	4	0	2	0	3	0	5	0	4	0	0	3	4	5	0	3	2	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr5:149449523C>T	ENST00000286301.3	-	10	1714	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	475	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCTAAGGTCTCAACAGTCAGC	0.602																																																	0													122	115	117					5																	149449523		2203	4300	6503	SO:0001583	missense	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	2433	protein-coding gene	gene with protein product		164770	"McDonough feline sarcoma viral (v-fms) oncogene homolog"	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1423G>A	5.37:g.149449523C>T	ENSP00000286301:p.Glu475Lys		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E475K	ENST00000286301.3	37	c.1423	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	2.541	-0.306339	0.05458	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.03181	4.02	5.66	2.74	0.32292	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.837839	0.10415	N	0.677481	T	0.02888	0.0086	N	0.24115	0.695	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.20384	0.029;0.021	T	0.48958	-0.8988	10	0.15952	T	0.53	.	6.853	0.24024	0.0:0.6629:0.1593:0.1778	.	327;475	B4E2Y8;P07333	.;CSF1R_HUMAN	K	475;327	ENSP00000286301:E475K	ENSP00000286301:E475K	E	-	1	0	CSF1R	149429716	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.024000	0.12435	0.764000	0.33197	0.455000	0.32223	GAG	CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000182578		0.602	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	-	0	59	0	C	NM_005211		149449523	-1	tier1	-	no_errors	ENST00000286301	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.000	T	T	149449523	C	T	149449523	3	4	102	1	0	0	0	0	1	0	0	0	3941	835	29	3	1547	3	CSF1R	5	149449523	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	8966968	149449523	31465737	33	28704											
MAT2B	27430	genome.wustl.edu	37	chr5	162943690	162943690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagatgtggccactgtgtgCcggcagctagcagagaagag	12	6	15	8	1	0	3	0	0	0	3	0	4	0	3	2	2	3	3	2	2	3	1	rs199601793		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr5:162943690C>T	ENST00000321757.6	+	5	832	c.693C>T	c.(691-693)tgC>tgT	p.C231C	MAT2B_ENST00000518095.1_Silent_p.C231C|MAT2B_ENST00000280969.5_Silent_p.C220C	NM_013283.3	NP_037415.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	231					cellular nitrogen compound metabolic process (GO:0034641)|extracellular polysaccharide biosynthetic process (GO:0045226)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|regulation of catalytic activity (GO:0050790)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|methionine adenosyltransferase complex (GO:0048269)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dTDP-4-dehydrorhamnose reductase activity (GO:0008831)|enzyme binding (GO:0019899)|methionine adenosyltransferase regulator activity (GO:0048270)			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)	CCACTGTGTGCCGGCAGCTAG	0.483																																																	0													82	77	79					5																	162943690		2203	4300	6503	SO:0001819	synonymous_variant	0			AF182814	CCDS4364.1, CCDS4365.1	5q34-q35	2011-09-14			ENSG00000038274	ENSG00000038274		"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	6905	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 23E, member 1"	605527				9055605, 10644686, 19027726	Standard	NM_182796		Approved	MATIIbeta, SDR23E1	uc003lzk.4	Q9NZL9	OTTHUMG00000130379	ENST00000321757.6:c.693C>T	5.37:g.162943690C>T			B2R5Y6|Q1WAI7|Q27J92|Q3LIE8|Q567T7|Q6NYC7|Q9BS89|Q9H3E1|Q9UJ54	Silent	SNP	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase	p.C231	ENST00000321757.6	37	c.693	CCDS4365.1	5																																																																																			MAT2B	-	pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase	ENSG00000038274		0.483	MAT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2B	HGNC	protein_coding	OTTHUMT00000252749.2		0	99	0	C	NM_013283		162943690	1			no_errors	ENST00000321757	ensembl	human	known	74_37	silent	7.69	48	4	SNP	1.000	T	T	162943690	C	T	162943690	2	4	102	1	0	0	0	0	0	0	0	1	9369	747	26	3		3	MAT2B	5	162943690	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	13494167	162943690	17971570	34	28705											
TUBB2A	7280	genome.wustl.edu	37	chr6	3155143	3155143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggcccagttattccCggctccactctggcctgcca	4	10	9	18	1	1	0	0	0	1	0	3	0	3	0	6	3	1	2	6	3	1	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:3155143C>T	ENST00000333628.3	-	4	354	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	TUBB2A_ENST00000489942.1_5'UTR|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	98					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G98R(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CAGTTATTCCCGGCTCCACTC	0.512																																																	1	Substitution - Missense(1)	endometrium(1)											21	25	24					6																	3155143		2195	4297	6492	SO:0001583	missense	0			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.292G>A	6.37:g.3155143C>T	ENSP00000369703:p.Gly98Arg		Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G98R	ENST00000333628.3	37	c.292	CCDS4484.1	6	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777879	0.49786	.	.	ENSG00000137267	ENST00000333628	T	0.80214	-1.35	5.01	5.01	0.66863	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.53938	U	0.000051	D	0.93523	0.7933	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.998	D;D;D	0.91635	0.935;0.999;0.99	D	0.95786	0.8821	10	0.87932	D	0	.	18.6816	0.91548	0.0:1.0:0.0:0.0	.	98;98;98	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	R	98	ENSP00000369703:G98R	ENSP00000369703:G98R	G	-	1	0	TUBB2A	3100142	1.000000	0.71417	0.823000	0.32752	0.722000	0.41435	7.681000	0.84073	2.491000	0.84063	0.650000	0.86243	GGG	TUBB2A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin	ENSG00000137267		0.512	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1		0	42	0	C	NM_001069		3155143	-1			no_errors	ENST00000333628	ensembl	human	known	74_37	missense	10.53	17	2	SNP	1.000	T	T	3155143	C	T	3155143	3	4	102	1	0	0	0	0	1	0	0	0	16803	652	23	1	1049	1	TUBB2A	6	3155143	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		3155143	167959924	35	28706											
BTN3A3	10384	genome.wustl.edu	37	chr6	26452349	26452349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctacacctttccgcacGcctctttctctgagcctcta	7	14	4	16	2	4	1	0	1	4	0	6	1	5	1	4	0	2	1	4	0	3	5	rs147058580	byFrequency	TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:26452349G>T	ENST00000244519.2	+	11	1708	c.1465G>T	c.(1465-1467)Gcc>Tcc	p.A489S	BTN3A3_ENST00000339789.4_Missense_Mutation_p.A447S|BTN3A3_ENST00000361232.3_Missense_Mutation_p.A440S	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	489	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.A489S(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTTTCCGCACGCCTCTTTCTC	0.478																																																	1	Substitution - Missense(1)	liver(1)											122	112	116					6																	26452349		2203	4300	6503	SO:0001583	missense	0			U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1465G>T	6.37:g.26452349G>T	ENSP00000244519:p.Ala489Ser		B4DWI7|E9PCP5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin	p.A489S	ENST00000244519.2	37	c.1465	CCDS4611.1	6	.	.	.	.	.	.	.	.	.	.	G	8.368	0.834576	0.16820	.	.	ENSG00000111801	ENST00000244519;ENST00000339789;ENST00000361232	T;T;T	0.69926	-0.44;-0.44;-0.44	3.11	-6.22	0.02058	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.25680	0.0625	L	0.45744	1.44	0.09310	N	1	B;B	0.28055	0.199;0.079	B;B	0.26969	0.075;0.074	T	0.16630	-1.0396	9	0.10377	T	0.69	.	8.1981	0.31409	0.2499:0.0:0.6113:0.1388	.	440;489	E9PCP5;O00478	.;BT3A3_HUMAN	S	489;447;440	ENSP00000244519:A489S;ENSP00000344968:A447S;ENSP00000355238:A440S	ENSP00000244519:A489S	A	+	1	0	BTN3A3	26560328	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-2.124000	0.01318	-1.669000	0.01470	-0.637000	0.03976	GCC	BTN3A3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000111801		0.478	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	BTN3A3	HGNC	protein_coding	OTTHUMT00000040116.2		0	80	0	G	NM_006994		26452349	1			no_errors	ENST00000244519	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.000	T	T	26452349	G	T	26452349	3	4	102	1	0	0	0	0	1	0	0	0	1568	1087	38	2	1499	2	BTN3A3	6	26452349	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	23297206	26452349	144662718	36	28707											
MOG	4340	genome.wustl.edu	37	chr6	29637970	29637970	+	Intron	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcctttggtgttctaggAccccaggttaaggaaccaaa	11	10	11	9	0	1	0	0	0	1	0	2	3	2	2	4	4	1	2	4	4	4	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:29637970A>G	ENST00000376917.3	+	6	821				MOG_ENST00000533330.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000494692.1_Silent_p.G204G|MOG_ENST00000490427.1_Silent_p.G88G|MOG_ENST00000396701.2_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000376894.4_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000396704.3_Silent_p.G204G|MOG_ENST00000416766.2_Intron|MOG_ENST00000376898.3_Intron	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTGTTCTAGGACCCCAGGTTA	0.433																																																	0													61	64	63					6																	29637970		1511	2709	4220	SO:0001627	intron_variant	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"Immunoglobulin superfamily / V-set domain containing", "Butyrophilins"	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.593-88A>G	6.37:g.29637970A>G			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G204	ENST00000376917.3	37	c.612	CCDS34370.1	6																																																																																			MOG	-	pirsf_Myelin-oligodendrocyte_glycop	ENSG00000204655		0.433	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3	-	0	41	0	A	NM_002433		29637970	1	tier1	-	no_errors	ENST00000494692	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.000	G	G	29637970	A	G	29637970	1	3	102	0	1	0	0	0	0	0	0	0	9731	262	10	4		4	MOG	6	29637970	Intron	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	3185621	29637970	141477097	37	28708											
DPCR1	135656	genome.wustl.edu	37	chr6	30919708	30919708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaccacattggcccAtgagaagatgacacaagtca	18	5	9	9	0	1	3	1	2	0	2	1	5	1	4	2	2	0	0	2	2	4	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:30919708A>G	ENST00000462446.1	+	2	3495	c.3467A>G	c.(3466-3468)cAt>cGt	p.H1156R	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	313						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACATTGGCCCATGAGAAGATG	0.473																																																	0													127	130	129					6																	30919708		2203	4300	6503	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.3467A>G	6.37:g.30919708A>G	ENSP00000417182:p.His1156Arg		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.H1156R	ENST00000462446.1	37	c.3467	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	A	9.529	1.110419	0.20714	.	.	ENSG00000168631	ENST00000462446	T	0.26373	1.74	3.03	-4.66	0.03329	.	.	.	.	.	T	0.04092	0.0114	N	0.19112	0.55	0.19575	N	0.999963	P	0.52692	0.955	B	0.43478	0.421	T	0.18493	-1.0335	9	0.17832	T	0.49	4.345	4.4594	0.11659	0.2517:0.3813:0.367:0.0	.	1156	E9PEI6	.	R	1156	ENSP00000417182:H1156R	ENSP00000417182:H1156R	H	+	2	0	DPCR1	31027687	0.000000	0.05858	0.000000	0.03702	0.281000	0.26958	-2.357000	0.01086	-0.594000	0.05836	0.368000	0.22195	CAT	DPCR1	-	NULL	ENSG00000168631		0.473	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	-	0	31	0	A	NM_080870		30919708	1	tier1	-	no_errors	ENST00000462446	ensembl	human	novel	74_37	missense	33.33	6	3	SNP	0.000	G	G	30919708	A	G	30919708	3	3	102	1	0	0	0	0	1	0	0	0	4726	217	8	4	3473	4	DPCR1	6	30919708	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	1281738	30919708	140195359	38	28709											
PI16	221476	genome.wustl.edu	37	chr6	36927007	36927007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcgcgggcgccgcggCgagaatctgttcgccatcac	8	5	15	13	7	2	1	1	0	1	1	3	3	2	2	2	3	1	1	2	3	2	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:36927007C>T	ENST00000373674.3	+	2	586	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	86	SCP.				negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCGCCGCGGCGAGAATCTGT	0.677																																																	0													25	23	23					6																	36927007		2197	4297	6494	SO:0001819	synonymous_variant	0				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"microseminoprotein, beta-binding protein"		"protease inhibitor 16"				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.258C>T	6.37:g.36927007C>T			Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.G86	ENST00000373674.3	37	c.258	CCDS34440.1	6																																																																																			PI16	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000164530		0.677	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PI16	HGNC	protein_coding	OTTHUMT00000040380.1	-	0	93	0	C	NM_153370		36927007	1	tier1	-	no_errors	ENST00000373674	ensembl	human	known	74_37	silent	53.12	30	34	SNP	0.442	T	T	36927007	C	T	36927007	2	4	102	1	0	0	0	0	0	0	0	1	11908	755	27	1		1	PI16	6	36927007	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	6007299	36927007	134188060	39	28710											
FILIP1	27145	genome.wustl.edu	37	chr6	76024322	76024322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcttcctcttgcagcttcTtcctcaattccctacactgg	5	16	5	15	0	4	0	1	0	3	0	7	0	7	0	3	1	3	3	3	1	2	7			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:76024322T>C	ENST00000237172.7	-	5	1556	c.1226A>G	c.(1225-1227)aAg>aGg	p.K409R	FILIP1_ENST00000393004.2_Missense_Mutation_p.K409R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.K310R	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	409										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGCAGCTTCTTCCTCAATTC	0.418																																																	0													170	168	168					6																	76024322		2203	4300	6503	SO:0001583	missense	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1226A>G	6.37:g.76024322T>C	ENSP00000237172:p.Lys409Arg		B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.K409R	ENST00000237172.7	37	c.1226	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	T	10.20	1.283750	0.23392	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.18657	2.2;2.2;2.21	5.65	5.65	0.86999	.	0.048629	0.85682	D	0.000000	T	0.08223	0.0205	L	0.27053	0.805	0.52099	D	0.999944	B;B;B	0.26635	0.155;0.014;0.023	B;B;B	0.24394	0.019;0.024;0.053	T	0.11767	-1.0574	10	0.30078	T	0.28	-32.6521	16.1778	0.81874	0.0:0.0:0.0:1.0	.	409;409;409	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	R	409;409;310	ENSP00000376728:K409R;ENSP00000237172:K409R;ENSP00000359037:K310R	ENSP00000237172:K409R	K	-	2	0	FILIP1	76081042	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	5.095000	0.64529	2.279000	0.76181	0.533000	0.62120	AAG	FILIP1	-	NULL	ENSG00000118407		0.418	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	-	0	78	0	T	XM_029179		76024322	-1	tier1	-	no_errors	ENST00000237172	ensembl	human	known	74_37	missense	16.36	45	9	SNP	1.000	C	C	76024322	T	C	76024322	3	2	102	1	0	0	0	0	1	0	0	0	5916	1609	56	4	2423	4	FILIP1	6	76024322	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	39097315	76024322	95090745	40	28711											
DSE	29940	genome.wustl.edu	37	chr6	116747882	116747882	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccaatgcctcagggtatAtgtatgaaacttcatacagg	12	12	9	8	0	2	1	2	1	0	0	2	1	2	1	2	2	4	2	2	2	6	6			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:116747882A>T	ENST00000331677.3	+	4	1006	c.562A>T	c.(562-564)Atg>Ttg	p.M188L	DSE_ENST00000606265.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.M188L|DSE_ENST00000452085.3_Missense_Mutation_p.M188L|DSE_ENST00000537543.1_Missense_Mutation_p.M207L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	188					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTCAGGGTATATGTATGAAAC	0.458																																																	0													110	98	102					6																	116747882		2203	4300	6503	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"squamous cell carcinoma antigen recognized by T cells 2"	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.562A>T	6.37:g.116747882A>T	ENSP00000332151:p.Met188Leu		Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.M207L	ENST00000331677.3	37	c.619	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351229	0.82132	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.38175	1.15	0.80722	D	1	P;P	0.43024	0.798;0.798	P;P	0.60236	0.871;0.871	T	0.22765	-1.0207	9	.	.	.	-28.0913	16.6093	0.84858	1.0:0.0:0.0:0.0	.	207;188	B7Z765;Q9UL01	.;DSE_HUMAN	L	188;207;188;188	ENSP00000404049:M188L;ENSP00000441152:M207L;ENSP00000332151:M188L;ENSP00000352567:M188L	.	M	+	1	0	DSE	116854575	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.036000	0.70948	2.324000	0.78689	0.533000	0.62120	ATG	DSE	-	superfamily_Chondroitin_lyas	ENSG00000111817		0.458	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	-	0	76	0	A	NM_013352		116747882	1	tier1	-	no_errors	ENST00000537543	ensembl	human	known	74_37	missense	18.18	53	12	SNP	1.000	T	T	116747882	A	T	116747882	3	4	102	1	0	0	0	0	1	0	0	0	4788	449	16	5	568	5	DSE	6	116747882	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	40723560	116747882	54367185	41	28712											
OR2A4	79541	genome.wustl.edu	37	chr6	132021790	132021790	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgataatggctgtgccaTaaacgagtccaatcacacag	15	8	8	10	1	1	1	1	1	0	0	2	2	2	1	2	1	2	1	2	1	4	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:132021790T>C	ENST00000315453.2	-	1	845	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	251					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		GGCTGTGCCATAAACGAGTCC	0.483																																																	0													69	96	88					6																	132021790		1790	4253	6043	SO:0001583	missense	0			AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"GPCR / Class A : Olfactory receptors"	14729	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily A, member 10"	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.752A>G	6.37:g.132021790T>C	ENSP00000319546:p.Tyr251Cys		Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.Y251C	ENST00000315453.2	37	c.752	CCDS5149.1	6	.	.	.	.	.	.	.	.	.	.	-	10.67	1.414311	0.25465	.	.	ENSG00000180658	ENST00000315453	T	0.41758	0.99	1.65	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	0.251610	0.20813	U	0.085205	T	0.53238	0.1784	M	0.87456	2.885	0.35157	D	0.770298	D	0.89917	1.0	D	0.97110	1.0	T	0.57985	-0.7716	10	0.62326	D	0.03	.	7.5979	0.28058	0.0:0.0:0.0:1.0	.	251	O95047	OR2A4_HUMAN	C	251	ENSP00000319546:Y251C	ENSP00000319546:Y251C	Y	-	2	0	OR2A4	132063483	0.000000	0.05858	0.999000	0.59377	0.000000	0.00434	-0.944000	0.03913	0.791000	0.33826	0.000000	0.15137	TAT	OR2A4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180658		0.483	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A4	HGNC	protein_coding	OTTHUMT00000109221.1	-	0	64	0	T	NM_030908		132021790	-1	tier1	-	no_errors	ENST00000315453	ensembl	human	known	74_37	missense	37.50	20	12	SNP	1.000	C	C	132021790	T	C	132021790	3	2	102	1	0	0	0	0	1	0	0	0	11018	1406	49	4	183	4	OR2A4	6	132021790	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	15273908	132021790	39093277	42	28713											
FRMD1	79981	genome.wustl.edu	37	chr6	168479699	168479699	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgggttccatacatcGcgcccctgaaggagggaacg	10	6	14	11	3	0	1	0	1	0	0	2	4	1	4	3	4	2	1	3	4	3	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr6:168479699G>A	ENST00000283309.6	-	1	140	c.76C>T	c.(76-78)Cga>Tga	p.R26*		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	26						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCCATACATCGCGCCCCTGAA	0.657																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)												0													66	63	64					6																	168479699		2203	4300	6503	SO:0001587	stop_gained	0				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.76C>T	6.37:g.168479699G>A	ENSP00000283309:p.Arg26*		B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Nonsense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.R26*	ENST00000283309.6	37	c.76	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784747	0.49997	.	.	ENSG00000153303	ENST00000283309;ENST00000511714	.	.	.	1.79	0.55	0.17219	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	3.3202	0.07048	0.0:0.2836:0.4305:0.2859	.	.	.	.	X	26;68	.	ENSP00000283309:R26X	R	-	1	2	FRMD1	168222548	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.488000	0.06497	0.911000	0.36747	0.313000	0.20887	CGA	FRMD1	-	NULL	ENSG00000153303		0.657	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	HGNC	protein_coding	OTTHUMT00000362513.2	-	0	77	0	G	NM_024919		168479699	-1	tier1	-	no_errors	ENST00000283309	ensembl	human	known	74_37	nonsense	17.39	57	12	SNP	0.001	A	A	168479699	G	A	168479699	4	1	102	1	0	0	0	0	0	1	0	0	6073	1095	38	1	1630	1	FRMD1	6	168479699	Nonsense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	36457909	168479699	2635368	43	28714											
ABCB5	340273	genome.wustl.edu	37	chr7	20768053	20768053	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatttaattcaagctggaCgaatgaccccagagggcatg	12	9	10	10	1	1	2	1	1	0	1	1	4	1	3	3	2	1	2	3	2	4	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr7:20768053C>T	ENST00000404938.2	+	23	3494	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R503*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	948	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAAGCTGGACGAATGACCCC	0.473																																																	0													99	96	97					7																	20768053		2203	4300	6503	SO:0001587	stop_gained	0			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"ATP binding cassette transporters / subfamily B"	46	protein-coding gene	gene with protein product	"P-glycoprotein ABCB5", "ATP-binding cassette protein"	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2842C>T	7.37:g.20768053C>T	ENSP00000384881:p.Arg948*		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R503*	ENST00000404938.2	37	c.1507	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.131910	0.99343	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	3.91	2.99	0.34606	.	3.108400	0.02771	U	0.119757	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	10.7564	0.46239	0.1915:0.8085:0.0:0.0	.	.	.	.	X	948;503	.	ENSP00000258738:R503X	R	+	1	2	ABCB5	20734578	0.171000	0.23029	1.000000	0.80357	0.998000	0.95712	-0.642000	0.05427	1.156000	0.42514	0.655000	0.94253	CGA	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000004846		0.473	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	-	0	45	0	C	NM_178559		20768053	1	tier1	-	no_errors	ENST00000258738	ensembl	human	known	74_37	nonsense	34.38	21	11	SNP	1.000	T	T	20768053	C	T	20768053	4	4	102	1	0	0	0	0	0	1	0	0	44	528	19	1	2969	1	ABCB5	7	20768053	Nonsense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		20768053	138370610	44	28715											
ZNF804B	219578	genome.wustl.edu	37	chr7	88963384	88963384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttaatcacccatgccaagCaaatgcttccttcagcccac	11	10	5	15	0	2	0	2	0	0	0	3	0	3	0	4	0	4	3	4	0	3	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr7:88963384C>A	ENST00000333190.4	+	4	1697	c.1088C>A	c.(1087-1089)gCa>gAa	p.A363E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	363							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCATGCCAAGCAAATGCTTCC	0.388										HNSCC(36;0.09)																																							0													41	46	44					7																	88963384		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"zinc finger 804B"				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1088C>A	7.37:g.88963384C>A	ENSP00000329638:p.Ala363Glu		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.A363E	ENST00000333190.4	37	c.1088	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	6.201	0.405295	0.11754	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.19	2.32	0.28847	.	0.340181	0.25264	N	0.031938	T	0.07863	0.0197	L	0.54323	1.7	0.09310	N	0.999997	B	0.12630	0.006	B	0.12156	0.007	T	0.22661	-1.0210	10	0.72032	D	0.01	-0.1941	10.0934	0.42460	0.398:0.4738:0.1283:0.0	.	363	A4D1E1	Z804B_HUMAN	E	363	ENSP00000329638:A363E	ENSP00000329638:A363E	A	+	2	0	ZNF804B	88801320	0.085000	0.21516	0.556000	0.28293	0.945000	0.59286	0.738000	0.26158	0.320000	0.23234	-0.169000	0.13324	GCA	ZNF804B	-	NULL	ENSG00000182348		0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0	22	0	C	NM_181646		88963384	1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.213	A	A	88963384	C	A	88963384	3	1	102	1	0	0	0	0	1	0	0	0	18219	710	25	3	1102	3	ZNF804B	7	88963384	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	68195331	88963384	70175279	45	28716											
TRRAP	8295	genome.wustl.edu	37	chr7	98548596	98548596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccagaaggagataaccCagaaagcatcaccagtgtgt	16	6	9	10	0	1	3	1	0	0	3	2	4	2	3	3	1	2	1	3	1	4	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr7:98548596C>A	ENST00000359863.4	+	38	5620	c.5411C>A	c.(5410-5412)cCa>cAa	p.P1804Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.P1785Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.P1786Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1804					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.P1804Q(2)|p.P1786Q(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGAGATAACCCAGAAAGCATC	0.478																																																	4	Substitution - Missense(4)	lung(4)											241	223	229					7																	98548596		2203	4300	6503	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5411C>A	7.37:g.98548596C>A	ENSP00000352925:p.Pro1804Gln		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P1804Q	ENST00000359863.4	37	c.5411	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.77|19.77	3.890133|3.890133	0.72524|0.72524	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02812|.	4.15;4.15|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.056610|.	0.64402|.	D|.	0.000001|.	T|T	0.69682|0.69682	0.3138|0.3138	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P|.	0.60575|.	0.988;0.98;0.859|.	P;P;P|.	0.59948|.	0.866;0.597;0.551|.	T|T	0.67260|0.67260	-0.5715|-0.5715	10|5	0.15952|.	T|.	0.53|.	.|.	14.4435|14.4435	0.67333|0.67333	0.1472:0.8528:0.0:0.0|0.1472:0.8528:0.0:0.0	.|.	1786;1525;1804|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|K	1804;1786;1784|1526	ENSP00000352925:P1804Q;ENSP00000347733:P1786Q|.	ENSP00000347733:P1786Q|.	P|Q	+|+	2|1	0|0	TRRAP|TRRAP	98386532|98386532	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	3.908000|3.908000	0.56355|0.56355	2.653000|2.653000	0.90120|0.90120	0.561000|0.561000	0.74099|0.74099	CCA|CAG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.478	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	-	0	100	0	C	NM_003496		98548596	1	tier1	-	no_errors	ENST00000359863	ensembl	human	known	74_37	missense	29.46	79	33	SNP	0.998	A	A	98548596	C	A	98548596	3	1	102	1	0	0	0	0	1	0	0	0	16649	594	21	3	5499	3	TRRAP	7	98548596	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	9585212	98548596	60590067	46	28717											
SSBP1	6742	genome.wustl.edu	37	chr7	141450109	141450109	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattttggcttttttacAgataatattatatttctgag	11	21	5	4	0	1	2	0	1	1	1	1	2	1	2	0	1	2	1	0	1	6	11			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr7:141450109A>T	ENST00000481508.1	+	7	838		c.e7-1		SSBP1_ENST00000484178.1_Splice_Site|SSBP1_ENST00000498107.1_Splice_Site|SSBP1_ENST00000265304.6_Splice_Site|SSBP1_ENST00000465582.1_Splice_Site|SSBP1_ENST00000469123.1_Splice_Site	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial						DNA replication (GO:0006260)|mitochondrion morphogenesis (GO:0070584)|positive regulation of helicase activity (GO:0051096)	extracellular vesicular exosome (GO:0070062)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					GCTTTTTTACAGATAATATTA	0.313																																																	0													50	54	53					7																	141450109		2203	4300	6503	SO:0001630	splice_region_variant	0			M94556	CCDS5866.1	7q34	2012-05-25	2012-05-25		ENSG00000106028	ENSG00000106028			11317	protein-coding gene	gene with protein product		600439	"single-stranded DNA-binding protein", "single-stranded DNA binding protein 1"			7789991	Standard	NM_001256510		Approved	SSBP, mtSSB	uc031szi.1	Q04837	OTTHUMG00000157572	ENST00000481508.1:c.404-1A>T	7.37:g.141450109A>T				Splice_Site	SNP	-	e6-2	ENST00000481508.1	37	c.404-2	CCDS5866.1	7	.	.	.	.	.	.	.	.	.	.	A	21.8	4.198670	0.79015	.	.	ENSG00000106028	ENST00000265304;ENST00000498107;ENST00000467681;ENST00000465582;ENST00000484178;ENST00000481508	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2958	0.66311	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SSBP1	141096578	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.324000	0.72896	2.246000	0.74042	0.533000	0.62120	.	SSBP1	-	-	ENSG00000106028		0.313	SSBP1-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SSBP1	HGNC	protein_coding	OTTHUMT00000349187.1		0	38	0	A	NM_003143	Intron	141450109	1			no_errors	ENST00000265304	ensembl	human	known	74_37	splice_site	16.00	21	4	SNP	1.000	T	T	141450109	A	T	141450109	5	4	102	1	0	0	0	0	0	0	1	0	15226	202	7	5	424	5	SSBP1	7	141450109	Splice_Site	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	42901513	141450109	17688554	47	28718											
PCMTD1	115294	genome.wustl.edu	37	chr8	52733124	52733124	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattacccacaaatacgtaAgtgttaattctctgtttaac	13	15	5	8	1	1	1	0	1	1	0	2	1	1	1	1	0	3	3	1	0	6	7			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr8:52733124A>C	ENST00000360540.5	-	7	1267	c.861T>G	c.(859-861)acT>acG	p.T287T	PCMTD1_ENST00000522514.1_Silent_p.T287T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.T211T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393																																																	0													192	190	191					8																	52733124		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.861T>G	8.37:g.52733124A>C			Q96FK9	Silent	SNP	pfam_PCMT	p.T287	ENST00000360540.5	37	c.861	CCDS6148.1	8																																																																																			PCMTD1	-	NULL	ENSG00000168300		0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2	-	0	145	0	A	NM_052937		52733124	-1	tier1	-	no_errors	ENST00000360540	ensembl	human	known	74_37	silent	9.76	74	8	SNP	0.566	C	C	52733124	A	C	52733124	2	2	102	1	0	0	0	0	0	0	0	1	11625	59	3	4		4	PCMTD1	8	52733124	Silent	SNP	A	TCGA-LN-A49O-01A-11D-A247-09		52733124	93630898	48	28719											
PSKH2	85481	genome.wustl.edu	37	chr8	87060700	87060700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcatctgcttacaaaagCgcagacagtggcgattctac	12	9	10	10	2	3	1	1	0	2	1	3	2	3	1	0	2	4	2	0	2	4	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr8:87060700C>T	ENST00000276616.2	-	3	1223	c.1149G>A	c.(1147-1149)gcG>gcA	p.A383A		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	383							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CTTACAAAAGCGCAGACAGTG	0.433																																																	0													91	92	91					8																	87060700		2203	4300	6503	SO:0001819	synonymous_variant	0			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.1149G>A	8.37:g.87060700C>T			A0AV22	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A383	ENST00000276616.2	37	c.1149	CCDS6240.1	8																																																																																			PSKH2	-	NULL	ENSG00000147613		0.433	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSKH2	HGNC	protein_coding	OTTHUMT00000374628.1	-	0	98	0	C	NM_033126		87060700	-1	tier1	-	no_errors	ENST00000276616	ensembl	human	known	74_37	silent	30.67	52	23	SNP	0.006	T	T	87060700	C	T	87060700	2	4	102	1	0	0	0	0	0	0	0	1	12707	755	27	1		1	PSKH2	8	87060700	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	34327576	87060700	59303322	49	28720											
TMEM64	169200	genome.wustl.edu	37	chr8	91657797	91657797	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaggtgctgccgaggcAgcagcagcgccagtttctca	9	6	12	14	2	1	0	1	0	1	0	2	1	1	0	3	2	6	5	3	2	1	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr8:91657797A>T	ENST00000458549.2	-	1	514	c.337T>A	c.(337-339)Tgc>Agc	p.C113S	TMEM64_ENST00000519519.1_Intron|RP11-68L18.1_ENST00000519233.1_RNA|RP11-68L18.1_ENST00000501194.2_RNA|TMEM64_ENST00000418210.2_Missense_Mutation_p.C113S	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	113					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			CTGCCGAGGCAGCAGCAGCGC	0.736																																																	0													7	13	11					8																	91657797		674	1560	2234	SO:0001583	missense	0			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.337T>A	8.37:g.91657797A>T	ENSP00000414786:p.Cys113Ser		B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	pfam_SNARE_assoc	p.C113S	ENST00000458549.2	37	c.337	CCDS34920.2	8	.	.	.	.	.	.	.	.	.	.	A	14.70	2.614559	0.46631	.	.	ENSG00000180694	ENST00000458549;ENST00000418210	.	.	.	3.47	2.25	0.28309	.	0.000000	0.85682	U	0.000000	T	0.35508	0.0934	L	0.32530	0.975	0.47407	D	0.99941	P;P	0.41450	0.75;0.634	B;B	0.36335	0.222;0.111	T	0.06899	-1.0801	9	0.38643	T	0.18	.	8.5976	0.33725	0.8048:0.1951:0.0:0.0	.	113;113	F5GXM4;Q6YI46	.;TMM64_HUMAN	S	113	.	ENSP00000411951:C113S	C	-	1	0	TMEM64	91726973	0.996000	0.38824	1.000000	0.80357	0.164000	0.22412	0.804000	0.27098	0.464000	0.27142	0.254000	0.18369	TGC	TMEM64	-	NULL	ENSG00000180694		0.736	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM64	HGNC	protein_coding	OTTHUMT00000347825.1	-	0	10	0	A	NM_001008495		91657797	-1	tier1	-	no_errors	ENST00000458549	ensembl	human	known	74_37	missense	85.71	1	6	SNP	1.000	T	T	91657797	A	T	91657797	3	4	102	1	0	0	0	0	1	0	0	0	16240	188	7	5	817	5	TMEM64	8	91657797	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	4597097	91657797	54706225	50	28721											
COX6C	1345	genome.wustl.edu	37	chr8	100904210	100904210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagacgcctggccagaaGgccacgcatccgaggttttg	8	7	13	13	4	0	2	0	0	0	2	2	3	1	2	4	3	0	3	4	3	1	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr8:100904210G>A	ENST00000520468.2	-	2	494	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	COX6C_ENST00000524245.1_Missense_Mutation_p.L14F|COX6C_ENST00000522940.1_Missense_Mutation_p.L14F|COX6C_ENST00000297564.2_Missense_Mutation_p.L14F|COX6C_ENST00000523016.1_Missense_Mutation_p.L14F|COX6C_ENST00000517682.2_Missense_Mutation_p.L14F|COX6C_ENST00000518171.1_Missense_Mutation_p.L14F|COX6C_ENST00000520271.1_Missense_Mutation_p.L14F	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc	14					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)		HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTGGCCAGAAGGCCACGCATC	0.448			T	HMGA2	uterine leiomyoma																																NSCLC(46;1123 1136 1705 23767 45086)			Dom	yes		8	8q22-q23	1345	cytochrome c oxidase subunit VIc		M	0													122	122	122					8																	100904210		2203	4300	6503	SO:0001583	missense	0			X13238	CCDS6284.1	8q22.2	2011-07-04			ENSG00000164919	ENSG00000164919	1.9.3.1	"Mitochondrial respiratory chain complex / Complex IV"	2285	protein-coding gene	gene with protein product		124090				10072584	Standard	NM_004374		Approved		uc003yiy.2	P09669	OTTHUMG00000164703	ENST00000520468.2:c.40C>T	8.37:g.100904210G>A	ENSP00000428895:p.Leu14Phe		B2R4D7	Missense_Mutation	SNP	pfam_COX6C	p.L14F	ENST00000520468.2	37	c.40	CCDS6284.1	8	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912611	0.72983	.	.	ENSG00000164919	ENST00000520468;ENST00000297564;ENST00000520271;ENST00000517682;ENST00000524245;ENST00000522940;ENST00000518171;ENST00000523016	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	.	.	.	0.58432	D	0.999993	P	0.46457	0.878	P	0.53988	0.739	T	0.75997	-0.3120	8	0.62326	D	0.03	.	16.3244	0.82970	0.0:0.0:1.0:0.0	.	14	P09669	COX6C_HUMAN	F	14	.	ENSP00000297564:L14F	L	-	1	0	COX6C	100973386	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.710000	0.74670	2.654000	0.90174	0.563000	0.77884	CTT	COX6C	-	pfam_COX6C	ENSG00000164919		0.448	COX6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX6C	HGNC	protein_coding	OTTHUMT00000379834.3	-	0	10	0	G	NM_004374		100904210	-1	tier1	-	no_errors	ENST00000297564	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	A	A	100904210	G	A	100904210	3	1	102	1	0	0	0	0	1	0	0	0	3785	1000	35	3	195	3	COX6C	8	100904210	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	9246413	100904210	45459812	51	28722											
GRHL2	79977	genome.wustl.edu	37	chr8	102570742	102570742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagtgaacctttccctaaAtcaagatcacctggagaatt	13	11	6	11	0	2	3	2	1	0	2	4	4	4	3	4	1	1	0	4	1	5	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr8:102570742A>G	ENST00000251808.3	+	4	718	c.380A>G	c.(379-381)aAt>aGt	p.N127S	GRHL2_ENST00000395927.1_Missense_Mutation_p.N111S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	127					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTTTCCCTAAATCAAGATCAC	0.512																																																	0													131	132	132					8																	102570742		2203	4300	6503	SO:0001583	missense	0			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"deafness, autosomal dominant 28", "transcription factor CP2-like 3"	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.380A>G	8.37:g.102570742A>G	ENSP00000251808:p.Asn127Ser		A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.N127S	ENST00000251808.3	37	c.380	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	A	6.556	0.470960	0.12461	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11712	2.75;2.75	5.26	3.94	0.45596	.	0.089097	0.85682	N	0.000000	T	0.06735	0.0172	L	0.29908	0.895	0.39731	D	0.971617	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.19257	-1.0311	10	0.06494	T	0.89	-22.8331	8.838	0.35123	0.8856:0.0:0.1144:0.0	.	127;127	B4DL28;Q6ISB3	.;GRHL2_HUMAN	S	127;111;127	ENSP00000251808:N127S;ENSP00000379260:N111S	ENSP00000251808:N127S	N	+	2	0	GRHL2	102639918	1.000000	0.71417	0.792000	0.32020	0.967000	0.64934	3.447000	0.52936	0.683000	0.31428	0.519000	0.50382	AAT	GRHL2	-	NULL	ENSG00000083307		0.512	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	-	0	38	0	A	NM_024915		102570742	1	tier1	-	no_errors	ENST00000251808	ensembl	human	known	74_37	missense	23.53	38	12	SNP	1.000	G	G	102570742	A	G	102570742	3	3	102	1	0	0	0	0	1	0	0	0	6791	101	4	4	394	4	GRHL2	8	102570742	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	1666532	102570742	43793280	52	28723											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110376813	110376813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaaagtcacagaaataatAcctaaatatggcagtataaa	20	8	5	8	0	1	1	1	0	0	1	1	1	1	1	2	1	1	2	2	1	10	6			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr8:110376813A>G	ENST00000378402.5	+	2	215	c.111A>G	c.(109-111)atA>atG	p.I37M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	37	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAAATAATACCTAAATATG	0.328										HNSCC(38;0.096)																																							0													54	51	52					8																	110376813		1814	4072	5886	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.111A>G	8.37:g.110376813A>G	ENSP00000367655:p.Ile37Met		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.I37M	ENST00000378402.5	37	c.111	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	A	10.73	1.431619	0.25813	.	.	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	4.97	-0.513	0.11962	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.649919	0.14287	N	0.329147	T	0.59514	0.2199	L	0.31294	0.92	0.21967	N	0.999449	B	0.14012	0.009	B	0.17979	0.02	T	0.41734	-0.9492	10	0.29301	T	0.29	.	3.9692	0.09446	0.5931:0.0:0.2537:0.1532	.	37	Q86WI1	PKHL1_HUMAN	M	37	ENSP00000367655:I37M	ENSP00000367655:I37M	I	+	3	3	PKHD1L1	110445989	0.961000	0.32948	0.999000	0.59377	0.994000	0.84299	-0.115000	0.10741	0.046000	0.15833	0.477000	0.44152	ATA	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	81	0	A	NM_177531		110376813	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	26.09	51	18	SNP	0.997	G	G	110376813	A	G	110376813	3	3	102	1	0	0	0	0	1	0	0	0	12011	381	14	4	117	4	PKHD1L1	8	110376813	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	7806071	110376813	35987209	53	28724											
JRK	8629	genome.wustl.edu	37	chr8	143746717	143746717	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcattcccctgggccttaTaggcgacgggcaggtgctgg	6	8	16	11	2	0	0	0	0	0	0	1	1	1	0	3	6	1	3	3	6	2	3	rs369670710		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr8:143746717T>C	ENST00000507178.2	-	0	1093							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ctgggccttataggcgacggg	0.577																																																	0								T	CYS/TYR,CYS/TYR	1,2797		0,1,1398	13	16	15		761,761	2.5	0	8		15	0,5592		0,0,2796	no	missense,missense	JRK	NM_001077527.1,NM_003724.2	194,194	0,1,4194	CC,CT,TT		0.0,0.0357,0.0119	probably-damaging,probably-damaging	254/557,254/569	143746717	1,8389	1399	2796	4195			0			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"jerky (mouse) homolog", "jerky homolog (mouse)"			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746717T>C			O75565	RNA	SNP	-	NULL	ENST00000507178.2	37	NULL		8																																																																																			JRK	-	-	ENSG00000234616		0.577	JRK-003	KNOWN	basic	processed_transcript	JRK	HGNC	processed_transcript	OTTHUMT00000362914.1	-	0	37	0	T	NM_003724		143746717	-1	tier1	-	no_errors	ENST00000422119	ensembl	human	known	74_37	rna	29.03	44	18	SNP	0.041	C	C	143746717	T	C	143746717	1	2	102	0	1	0	0	0	0	0	0	0	7991	1406	49	4		4	JRK	8	143746717	RNA	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	33369904	143746717	2617305	54	28725											
RANBP6	26953	genome.wustl.edu	37	chr9	6015307	6015307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacttaacagccagaatcaGttcaatcttgacatctctct	13	13	4	11	0	5	2	2	1	3	1	6	2	5	2	1	0	3	1	1	0	4	4	rs555096862		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr9:6015307G>T	ENST00000259569.5	-	1	311	c.301C>A	c.(301-303)Ctg>Atg	p.L101M	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	101					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GCCAGAATCAGTTCAATCTTG	0.443																																																	0													82	83	83					9																	6015307		2203	4300	6503	SO:0001583	missense	0			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.301C>A	9.37:g.6015307G>T	ENSP00000259569:p.Leu101Met		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L101M	ENST00000259569.5	37	c.301	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077802	0.55753	.	.	ENSG00000137040	ENST00000259569	T	0.77750	-1.12	4.51	3.61	0.41365	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.84969	0.5590	M	0.72118	2.19	0.58432	D	0.999998	D	0.89917	1.0	D	0.75020	0.985	D	0.84911	0.0848	10	0.48119	T	0.1	-4.7514	10.9196	0.47156	0.0923:0.0:0.9077:0.0	.	101	O60518	RNBP6_HUMAN	M	101	ENSP00000259569:L101M	ENSP00000259569:L101M	L	-	1	2	RANBP6	6005307	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.897000	0.48664	1.505000	0.48720	0.561000	0.74099	CTG	RANBP6	-	superfamily_ARM-type_fold	ENSG00000137040		0.443	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1		0	53	0	G	NM_012416		6015307	-1			no_errors	ENST00000259569	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T	T	6015307	G	T	6015307	3	4	102	1	0	0	0	0	1	0	0	0	13076	1020	36	3	3020	3	RANBP6	9	6015307	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09		6015307	135198124	55	28726											
CDKN2A	1029	genome.wustl.edu	37	chr9	21994151	21994151	+	Frame_Shift_Del	DEL	A	A	-																															ttcctacctggtcttctaggAagcggctgctgccctagacg																										TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr9:21994151delA	ENST00000579755.1	-	1	472	c.180delT	c.(178-180)cttfs	p.L60fs	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000470819.2_Intron|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|RP11-149I2.4_ENST00000578935.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.L101fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.L60fs|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> T.|A -> V (in melanoma; loss of CDK4 binding; dbSNP:rs36204594).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(198)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTCTTCTAGGAAGCGGCTGCT	0.612		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							199	Whole gene deletion(199)	haematopoietic_and_lymphoid_tissue(34)|central_nervous_system(31)|lung(31)|skin(16)|kidney(14)|oesophagus(11)|bone(10)|pancreas(10)|urinary_tract(7)|breast(6)|soft_tissue(5)|thyroid(4)|pleura(4)|large_intestine(3)|stomach(3)|liver(3)|ovary(3)|upper_aerodigestive_tract(1)|vulva(1)|biliary_tract(1)|autonomic_ganglia(1)											13	15	14					9																	21994151		2180	4246	6426	SO:0001589	frameshift_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000579755.1:c.180delT	9.37:g.21994151delA	ENSP00000462950:p.Leu60fs		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	pfam_Cyclin_kinase-Inhib_2A	p.P102fs	ENST00000579755.1	37	c.303	CCDS6511.2	9																																																																																			CDKN2A	-	NULL	ENSG00000147889		0.612	CDKN2A-004	KNOWN	NMD_exception|upstream_ATG|basic|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051918.5		0	117	0	A	NM_000077		21994151	-1	tier1		no_errors	ENST00000361570	ensembl	human	known	74_37	frame_shift_del	12.50	14	2	DEL	0.976	-	-	21994151	A	-	21994151	7	5	102	1	0	1	0	1	0	0	0	0	3168	233	9	0	700	0	CDKN2A	9	21994151	Frame_Shift_Del	DEL	A	TCGA-LN-A49O-01A-11D-A247-09	15978844	21994151	119219280	56	28727											
LCN1	3933	genome.wustl.edu	37	chr9	138413998	138413998	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgaccctggaagggggcAacctggaagccaaggtcacc	11	4	13	13	1	2	0	2	0	0	0	2	3	2	2	4	5	2	1	4	5	4	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr9:138413998A>T	ENST00000263598.2	+	2	256	c.196A>T	c.(196-198)Aac>Tac	p.N66Y	LCN1_ENST00000371781.3_Missense_Mutation_p.N66Y	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	66					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GGAAGGGGGCAACCTGGAAGC	0.612																																																	0													14	14	14					9																	138413998		2197	4281	6478	SO:0001583	missense	0				CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"Lipocalins"	6525	protein-coding gene	gene with protein product	"Von Ebner gland protein", "tear lipocalin", "lipocalin 1-like 2", "tear prealbumin"	151675	"lipocalin 1 (protein migrating faster than albumin, tear prealbumin)", "lipocalin 1 (tear prealbumin)"			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.196A>T	9.37:g.138413998A>T	ENSP00000263598:p.Asn66Tyr		Q5T8A1	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	p.N66Y	ENST00000263598.2	37	c.196	CCDS6991.1	9	.	.	.	.	.	.	.	.	.	.	A	14.48	2.549230	0.45383	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.13901	2.55;2.55	2.84	0.281	0.15687	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.566103	0.15796	N	0.244192	T	0.30696	0.0773	M	0.81942	2.565	0.20821	N	0.999843	D	0.89917	1.0	D	0.83275	0.996	T	0.09862	-1.0655	10	0.87932	D	0	.	2.9623	0.05896	0.5899:0.2601:0.1499:0.0	.	66	P31025	LCN1_HUMAN	Y	66	ENSP00000263598:N66Y;ENSP00000360846:N66Y	ENSP00000263598:N66Y	N	+	1	0	LCN1	137553819	0.005000	0.15991	0.467000	0.27180	0.200000	0.23975	0.602000	0.24134	0.056000	0.16144	0.405000	0.27470	AAC	LCN1	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000160349		0.612	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN1	HGNC	protein_coding	OTTHUMT00000054992.1	-	0	107	0	A	NM_002297		138413998	1	tier1	-	no_errors	ENST00000263598	ensembl	human	known	74_37	missense	75.45	27	83	SNP	0.513	T	T	138413998	A	T	138413998	3	4	102	1	0	0	0	0	1	0	0	0	8708	130	5	5	202	5	LCN1	9	138413998	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	116419847	138413998	2799433	57	28728											
PCDH15	65217	genome.wustl.edu	37	chr10	55849756	55849756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacttacgtttctgaaagaTtaaaaactctctgaggatct	14	14	6	7	1	3	3	0	2	3	1	4	4	3	4	0	1	3	1	0	1	6	4	rs373731707		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr10:55849756T>C	ENST00000320301.6	-	16	2379	c.1985A>G	c.(1984-1986)aAt>aGt	p.N662S	PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.N669S|PCDH15_ENST00000395432.2_Missense_Mutation_p.N625S|PCDH15_ENST00000395438.1_Missense_Mutation_p.N662S|PCDH15_ENST00000373965.2_Missense_Mutation_p.N669S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.N662S|PCDH15_ENST00000395430.1_Missense_Mutation_p.N662S|PCDH15_ENST00000373957.3_Missense_Mutation_p.N640S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.N662S|PCDH15_ENST00000409834.1_Missense_Mutation_p.N273S|PCDH15_ENST00000414778.1_Missense_Mutation_p.N667S|PCDH15_ENST00000395446.1_Missense_Mutation_p.N662S|PCDH15_ENST00000395433.1_Missense_Mutation_p.N640S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCTGAAAGATTAAAAACTCT	0.348										HNSCC(58;0.16)			T|||	1	0.000199681	0	0	5008	,	,		16785	0		0.001	False		,,,				2504	0																0								T	SER/ASN,SER/ASN,,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	1,4405	2.1+/-5.4	0,1,2202	59	62	61		2000,1985,,1985,1874,1919,2021,1985,2000,1985,1919,1985	6.2	1	10		61	0,8594		0,0,4297	no	missense,missense,intron,missense,missense,missense,missense,missense,missense,missense,missense,missense	PCDH15	NM_001142763.1,NM_001142764.1,NM_001142765.1,NM_001142766.1,NM_001142767.1,NM_001142768.1,NM_001142769.1,NM_001142770.1,NM_001142771.1,NM_001142772.1,NM_001142773.1,NM_033056.3	46,46,,46,46,46,46,46,46,46,46,46	0,1,6499	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	667/1963,662/1958,,662/1953,625/1916,640/1936,674/1791,662/1540,667/1683,662/1678,640/1933,662/1956	55849756	1,12999	2203	4297	6500	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1985A>G	10.37:g.55849756T>C	ENSP00000322604:p.Asn662Ser		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N662S	ENST00000320301.6	37	c.1985	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884158	0.51908	2.27E-4	0.0	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	6.16	6.16	0.99307	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.45518	0.1346	N	0.05608	-0.01	0.80722	D	1	D;P;P;B;D;D;P;B;P;P;B;B;P;P	0.71674	0.998;0.939;0.592;0.392;0.974;0.998;0.475;0.392;0.592;0.475;0.242;0.203;0.629;0.592	D;P;P;B;P;D;B;B;B;P;B;B;P;P	0.77557	0.99;0.688;0.475;0.262;0.771;0.99;0.439;0.262;0.349;0.542;0.224;0.059;0.542;0.475	T	0.40534	-0.9558	9	0.08381	T	0.77	.	15.0359	0.71748	0.0:0.0:0.0:1.0	.	640;662;662;667;625;662;662;669;669;662;667;662;640;662	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	669;667;662;662;273;669;662;625;662;640;640;662;662;667;662	ENSP00000363076:N669S;ENSP00000410304:N667S;ENSP00000378826:N662S;ENSP00000386693:N273S;ENSP00000378832:N669S;ENSP00000378833:N662S;ENSP00000378820:N625S;ENSP00000354950:N662S;ENSP00000378821:N640S;ENSP00000363068:N640S;ENSP00000322604:N662S;ENSP00000378818:N662S;ENSP00000363066:N662S	ENSP00000322604:N662S	N	-	2	0	PCDH15	55519762	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.237000	0.65360	2.367000	0.80283	0.528000	0.53228	AAT	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.348	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	39	0	T	NM_033056		55849756	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	52.94	16	18	SNP	1.000	C	C	55849756	T	C	55849756	3	2	102	1	0	0	0	0	1	0	0	0	11550	1493	52	4	5573	4	PCDH15	10	55849756	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09		55849756	79684991	58	28729											
RHOBTB1	9886	genome.wustl.edu	37	chr10	62648194	62648194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactggagcagggtccgaAaagggcctggctggactgaa	12	5	16	8	1	0	1	0	1	0	0	1	5	1	3	2	5	2	2	2	5	4	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr10:62648194A>G	ENST00000337910.5	-	6	1569	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.F411S	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	411	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CAGGGTCCGAAAAGGGCCTGG	0.527																																																	0													61	60	60					10																	62648194		2203	4300	6503	SO:0001583	missense	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"BTB/POZ domain containing"	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1232T>C	10.37:g.62648194A>G	ENSP00000338671:p.Phe411Ser			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.F411S	ENST00000337910.5	37	c.1232	CCDS7261.1	10	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208811	0.79240	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.73152	-0.72;-0.72	5.71	5.71	0.89125	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.84406	0.5465	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86482	0.1792	10	0.87932	D	0	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	411	O94844	RHBT1_HUMAN	S	411	ENSP00000350595:F411S;ENSP00000338671:F411S	ENSP00000338671:F411S	F	-	2	0	RHOBTB1	62318200	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.667000	0.91153	2.188000	0.69820	0.533000	0.62120	TTT	RHOBTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000072422		0.527	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	-	0	27	0	A			62648194	-1	tier1	-	no_errors	ENST00000337910	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	G	G	62648194	A	G	62648194	3	3	102	1	0	0	0	0	1	0	0	0	13378	14	1	4	882	4	RHOBTB1	10	62648194	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	6798438	62648194	72886553	59	28730											
ADRA2A	150	genome.wustl.edu	37	chr10	112837931	112837931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggccggcctgctcatGctgctcaccgtgttcggcaa	4	10	12	15	3	2	0	2	0	0	0	3	0	2	0	4	3	4	5	4	3	1	1	rs376175216		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr10:112837931G>T	ENST00000280155.2	+	1	1142	c.177G>T	c.(175-177)atG>atT	p.M59I		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	44					actin cytoskeleton organization (GO:0030036)|activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|acute inflammatory response (GO:0002526)|adenylate cyclase-inhibiting adrenergic receptor signaling pathway (GO:0071881)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|DNA replication (GO:0006260)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|fear response (GO:0042596)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intestinal absorption (GO:0050892)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of adrenergic receptor signaling pathway (GO:0071878)|negative regulation of calcium ion transmembrane transporter activity (GO:1901020)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of insulin secretion (GO:0046676)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|phospholipase C-activating adrenergic receptor signaling pathway (GO:0071882)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of vasodilation (GO:0045909)|positive regulation of wound healing (GO:0090303)|Ras protein signal transduction (GO:0007265)|regulation of insulin secretion (GO:0050796)|regulation of vasoconstriction (GO:0019229)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|thermoception (GO:0050955)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	alpha-1B adrenergic receptor binding (GO:0031692)|alpha-2C adrenergic receptor binding (GO:0031696)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|heterotrimeric G-protein binding (GO:0032795)|norepinephrine binding (GO:0051380)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Dexmedetomidine(DB00633)|Dihydroergotamine(DB00320)|Dipivefrin(DB00449)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupirtine(DB06623)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Lofexidine(DB04948)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Naphazoline(DB06711)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pramipexole(DB00413)|Prazosin(DB00457)|Propericiazine(DB01608)|Pseudoephedrine(DB00852)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCTGCTCATGCTGCTCACCG	0.697																																					Esophageal Squamous(173;605 2658 7278 49362)												0													36	33	34					10																	112837931		2203	4300	6503	SO:0001583	missense	0			AF284095	CCDS7569.2	10q25.2	2012-08-08	2012-05-09		ENSG00000150594	ENSG00000150594		"GPCR / Class A : Adrenoceptors : alpha"	281	protein-coding gene	gene with protein product	"alpha-2AAR subtype C10", " alpha-2A-adrenergic receptor"	104210	"adrenergic, alpha-2A-, receptor"	ADRA2, ADRA2R			Standard	NM_000681		Approved	ADRAR	uc001kzo.3	P08913	OTTHUMG00000019050	ENST00000280155.2:c.177G>T	10.37:g.112837931G>T	ENSP00000280155:p.Met59Ile		B0LPF6|Q2I8G2|Q2XN99|Q86TH8|Q9BZK1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt	p.M59I	ENST00000280155.2	37	c.177	CCDS7569.2	10	.	.	.	.	.	.	.	.	.	.	G	3.193	-0.165370	0.06461	.	.	ENSG00000150594	ENST00000280155	T	0.19105	2.17	4.8	1.92	0.25849	.	0.441211	0.25750	N	0.028548	T	0.06096	0.0158	N	0.03608	-0.345	0.42832	D	0.994025	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.02654	T	1	.	4.9269	0.13898	0.2351:0.0:0.6184:0.1465	.	44	P08913	ADA2A_HUMAN	I	59	ENSP00000280155:M59I	ENSP00000280155:M59I	M	+	3	0	ADRA2A	112827921	1.000000	0.71417	0.770000	0.31555	0.983000	0.72400	3.470000	0.53100	0.111000	0.17947	0.555000	0.69702	ATG	ADRA2A	-	pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt	ENSG00000150594		0.697	ADRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2A	HGNC	protein_coding	OTTHUMT00000050372.2	-	0	61	0	G	NM_000681		112837931	1	tier1	-	no_errors	ENST00000280155	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	T	T	112837931	G	T	112837931	3	4	102	1	0	0	0	0	1	0	0	0	337	1319	46	3	179	3	ADRA2A	10	112837931	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	50189737	112837931	22696816	60	28731											
OR5P3	120066	genome.wustl.edu	37	chr11	7847098	7847098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgcccactaagatgatgCagactccaggggacatgcag	13	6	11	11	0	0	3	0	1	0	2	1	4	1	4	2	2	3	2	2	2	1	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr11:7847098C>T	ENST00000328375.1	-	1	421	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAGATGATGCAGACTCCAGG	0.532																																																	0													96	93	94					11																	7847098		2186	4296	6482	SO:0001583	missense	0			AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"GPCR / Class A : Olfactory receptors"	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.422G>A	11.37:g.7847098C>T	ENSP00000332068:p.Cys141Tyr		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C141Y	ENST00000328375.1	37	c.422	CCDS7783.1	11	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153283	0.38021	.	.	ENSG00000182334	ENST00000328375	T	0.00237	8.47	5.28	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.103996	0.43260	D	0.000599	T	0.00440	0.0014	M	0.78801	2.425	0.09310	N	1	D	0.76494	0.999	D	0.73380	0.98	T	0.45056	-0.9287	10	0.54805	T	0.06	-19.8126	6.3994	0.21630	0.1478:0.6933:0.0:0.159	.	141	Q8WZ94	OR5P3_HUMAN	Y	141	ENSP00000332068:C141Y	ENSP00000332068:C141Y	C	-	2	0	OR5P3	7803674	0.056000	0.20664	0.003000	0.11579	0.003000	0.03518	1.105000	0.31086	0.382000	0.24878	0.644000	0.83932	TGC	OR5P3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000182334		0.532	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P3	HGNC	protein_coding	OTTHUMT00000385697.1	-	0	46	0	C	NM_153445		7847098	-1	tier1	-	no_errors	ENST00000328375	ensembl	human	known	74_37	missense	11.11	24	3	SNP	0.003	T	T	7847098	C	T	7847098	3	4	102	1	0	0	0	0	1	0	0	0	11218	710	25	3	516	3	OR5P3	11	7847098	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		7847098	127159418	61	28732											
OR8H3	390152	genome.wustl.edu	37	chr11	55890163	55890163	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccagatgttctgttttgtCttcttgggtactgctgaatg	5	17	11	8	0	3	2	0	1	3	1	3	2	3	2	1	1	2	4	1	1	2	6			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr11:55890163C>G	ENST00000313472.3	+	1	315	c.315C>G	c.(313-315)gtC>gtG	p.V105V		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCTGTTTTGTCTTCTTGGGTA	0.438																																																	0													310	298	302					11																	55890163		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"GPCR / Class A : Olfactory receptors"	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.315C>G	11.37:g.55890163C>G			Q6IFB7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V105	ENST00000313472.3	37	c.315	CCDS31519.1	11																																																																																			OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181761		0.438	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0	162	0	C	NM_001005201		55890163	1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	silent	32.22	61	29	SNP	0.000	G	G	55890163	C	G	55890163	2	3	102	1	0	0	0	0	0	0	0	1	11278	900	32	5		5	OR8H3	11	55890163	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	48043065	55890163	79116353	62	28733											
STARD10	10809	genome.wustl.edu	37	chr11	72466800	72466800	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacttgggtaaggagccTgtgagggcagggaagggagg	10	5	19	7	0	0	1	0	1	0	0	0	4	0	4	2	6	1	2	2	6	2	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr11:72466800T>C	ENST00000334805.6	-	6	1497		c.e6-2		STARD10_ENST00000538536.1_Splice_Site|STARD10_ENST00000538437.1_Splice_Site|STARD10_ENST00000545082.1_Splice_Site|ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000543304.1_Splice_Site	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10						bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			GTAAGGAGCCTGTGAGGGCAG	0.602																																																	0													50	54	53					11																	72466800		1923	4128	6051	SO:0001630	splice_region_variant	0			AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"StAR-related lipid transfer (START) domain containing"	10666	protein-coding gene	gene with protein product			"serologically defined colon cancer antigen 28", "START domain containing 10"	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.578-2A>G	11.37:g.72466800T>C			O60532	Splice_Site	SNP	-	e5-2	ENST00000334805.6	37	c.578-2	CCDS41688.1	11	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975401	0.74360	.	.	ENSG00000214530	ENST00000537351;ENST00000543304;ENST00000334805;ENST00000538536;ENST00000545082;ENST00000544767;ENST00000537947;ENST00000400925	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9027	0.63815	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	STARD10	72144448	1.000000	0.71417	0.888000	0.34837	0.972000	0.66771	8.022000	0.88759	1.958000	0.56883	0.402000	0.26972	.	STARD10	-	-	ENSG00000214530		0.602	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STARD10	HGNC	protein_coding	OTTHUMT00000397254.1	-	0	41	0	T		Intron	72466800	-1	tier1	-	no_errors	ENST00000334805	ensembl	human	known	74_37	splice_site	42.86	12	9	SNP	0.998	C	C	72466800	T	C	72466800	5	2	102	1	0	0	0	0	0	0	1	0	15302	1594	55	4	307	4	STARD10	11	72466800	Splice_Site	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	16576637	72466800	62539716	63	28734											
OR8A1	390275	genome.wustl.edu	37	chr11	124440069	124440069	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattctcaagggtttaacGaagagagcagacctccagct	12	10	9	10	1	2	2	2	0	1	2	4	4	3	2	2	1	3	3	2	1	3	4	rs147478128	byFrequency	TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr11:124440069G>T	ENST00000284287.3	+	1	177	c.105G>T	c.(103-105)acG>acT	p.T35T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	35					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AGGGTTTAACGAAGAGAGCAG	0.527																																																	0													95	89	91					11																	124440069		2201	4299	6500	SO:0001819	synonymous_variant	0			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.105G>T	11.37:g.124440069G>T			Q6IEW7|Q96RC6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T35	ENST00000284287.3	37	c.105	CCDS31712.1	11																																																																																			OR8A1	-	NULL	ENSG00000196119		0.527	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	HGNC	protein_coding	OTTHUMT00000387062.1		0	41	0	G	NM_001005194		124440069	1			no_errors	ENST00000284287	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.000	T	T	124440069	G	T	124440069	2	4	102	1	0	0	0	0	0	0	0	1	11264	1045	37	2		2	OR8A1	11	124440069	Silent	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	51973269	124440069	10566447	64	28735											
WNT5B	81029	genome.wustl.edu	37	chr12	1755098	1755098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtacgacagcgcggccGccatgcgcgtcacccgcaag	10	3	13	15	7	1	1	1	0	0	1	1	2	1	1	3	1	3	2	3	1	3	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr12:1755098G>A	ENST00000397196.2	+	5	992	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000542408.1_3'UTR|WNT5B_ENST00000310594.3_Missense_Mutation_p.A254T|WNT5B_ENST00000537031.1_Missense_Mutation_p.A254T	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	254					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CAGCGCGGCCGCCATGCGCGT	0.692																																																	0													26	28	27					12																	1755098		2201	4298	6499	SO:0001583	missense	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"Wingless-type MMTV integration sites"	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.760G>A	12.37:g.1755098G>A	ENSP00000380379:p.Ala254Thr		A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.A254T	ENST00000397196.2	37	c.760	CCDS8510.1	12	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307114	0.60305	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196	T;T;T	0.75477	-0.94;-0.94;-0.94	5.14	5.14	0.70334	.	0.049807	0.85682	D	0.000000	T	0.66056	0.2751	L	0.41492	1.28	0.80722	D	1	P	0.40032	0.699	B	0.37239	0.244	T	0.70472	-0.4862	10	0.59425	D	0.04	.	13.7304	0.62783	0.0:0.0:0.8463:0.1537	.	254	Q9H1J7	WNT5B_HUMAN	T	254	ENSP00000439312:A254T;ENSP00000308887:A254T;ENSP00000380379:A254T	ENSP00000308887:A254T	A	+	1	0	WNT5B	1625359	1.000000	0.71417	0.976000	0.42696	0.470000	0.32858	7.661000	0.83786	2.668000	0.90789	0.650000	0.86243	GCC	WNT5B	-	pfam_Wnt,smart_Wnt	ENSG00000111186		0.692	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	-	0	50	0	G			1755098	1	tier1	-	no_errors	ENST00000310594	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.999	A	A	1755098	G	A	1755098	3	1	102	1	0	0	0	0	1	0	0	0	17441	1087	38	1	774	1	WNT5B	12	1755098	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09		1755098	132096797	65	28736											
FOXJ2	55810	genome.wustl.edu	37	chr12	8196342	8196342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgacatttcccgaaagAgaagacaccctccagatgat	13	7	8	13	1	0	5	0	2	0	3	2	7	2	5	4	0	0	0	4	0	2	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr12:8196342A>G	ENST00000162391.3	+	4	1599	c.454A>G	c.(454-456)Aga>Gga	p.R152G	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152G	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	152					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTCCCGAAAGAGAAGACACCC	0.488																																																	0													173	167	169					12																	8196342		2203	4300	6503	SO:0001583	missense	0			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"Forkhead boxes"	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.454A>G	12.37:g.8196342A>G	ENSP00000162391:p.Arg152Gly		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R152G	ENST00000162391.3	37	c.454	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	A	20.4	3.983360	0.74474	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95949	-3.64;-3.86	5.05	5.05	0.67936	Transcription factor, fork head (1);	0.157695	0.44483	N	0.000443	D	0.89887	0.6845	N	0.17082	0.46	0.44798	D	0.997808	B;B	0.29085	0.094;0.232	B;B	0.30495	0.116;0.085	D	0.87358	0.2342	10	0.33141	T	0.24	.	11.2169	0.48831	1.0:0.0:0.0:0.0	.	152;152	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	G	152	ENSP00000162391:R152G;ENSP00000403411:R152G	ENSP00000162391:R152G	R	+	1	2	FOXJ2	8087609	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.019000	0.76412	1.902000	0.55061	0.459000	0.35465	AGA	FOXJ2	-	smart_TF_fork_head	ENSG00000065970		0.488	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	-	0	68	0	A	NM_018416		8196342	1	tier1	-	no_errors	ENST00000162391	ensembl	human	known	74_37	missense	45.36	53	44	SNP	1.000	G	G	8196342	A	G	8196342	3	3	102	1	0	0	0	0	1	0	0	0	6036	296	11	4	464	4	FOXJ2	12	8196342	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	6441244	8196342	125655553	66	28737											
CLEC4D	338339	genome.wustl.edu	37	chr12	8673805	8673805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataaatgggcctggaatGatgttccttgtaactttgaa	13	13	10	5	0	0	3	0	2	0	1	1	4	1	4	2	2	1	2	2	2	6	5			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr12:8673805G>T	ENST00000299665.2	+	6	779	c.586G>T	c.(586-588)Gat>Tat	p.D196Y		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	196	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCCTGGAATGATGTTCCTTG	0.378																																																	0													131	125	127					12																	8673805		2203	4300	6503	SO:0001583	missense	0			AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"C-type lectin domain containing"	14554	protein-coding gene	gene with protein product		609964	"C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.586G>T	12.37:g.8673805G>T	ENSP00000299665:p.Asp196Tyr		Q8N5J5	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.D196Y	ENST00000299665.2	37	c.586	CCDS8593.1	12	.	.	.	.	.	.	.	.	.	.	G	8.103	0.776999	0.16120	.	.	ENSG00000166527	ENST00000299665	T	0.24538	1.85	4.22	-0.806	0.10875	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.41050	0.1142	H	0.98721	4.31	0.09310	N	0.999999	P	0.35033	0.481	B	0.31946	0.138	T	0.48790	-0.9004	9	0.87932	D	0	.	3.5417	0.07814	0.3882:0.0:0.4402:0.1716	.	196	Q8WXI8	CLC4D_HUMAN	Y	196	ENSP00000299665:D196Y	ENSP00000299665:D196Y	D	+	1	0	CLEC4D	8565072	0.020000	0.18652	0.001000	0.08648	0.098000	0.18820	-0.114000	0.10757	-0.155000	0.11098	-1.000000	0.02509	GAT	CLEC4D	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000166527		0.378	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4D	HGNC	protein_coding	OTTHUMT00000400565.1		0	28	0	G	NM_080387		8673805	1			no_errors	ENST00000299665	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.001	T	T	8673805	G	T	8673805	3	4	102	1	0	0	0	0	1	0	0	0	3521	1290	45	3	608	3	CLEC4D	12	8673805	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	477463	8673805	125178090	67	28738											
ARID2	196528	genome.wustl.edu	37	chr12	46230371	46230371	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaataatttatcattacaGttttggaaagacatcgttga	15	16	6	4	1	1	2	1	1	0	1	2	3	1	3	0	1	1	2	0	1	6	8			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr12:46230371G>T	ENST00000334344.6	+	7	877		c.e7-1		ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000422737.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TATCATTACAGTTTTGGAAAG	0.338			"N, S, F"		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													59	61	60					12																	46230371		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.706-1G>T	12.37:g.46230371G>T			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	-	e7-1	ENST00000334344.6	37	c.706-1	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432596	0.62844	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5742	0.95434	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44516638	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.620000	0.74224	2.698000	0.92095	0.591000	0.81541	.	ARID2	-	-	ENSG00000189079		0.338	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2		0	54	0	G	XM_350875	Intron	46230371	1			no_errors	ENST00000334344	ensembl	human	known	74_37	splice_site	5.88	31	2	SNP	1.000	T	T	46230371	G	T	46230371	5	4	102	1	0	0	0	0	0	0	1	0	915	1043	36	3	731	3	ARID2	12	46230371	Splice_Site	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	37556566	46230371	87621524	68	28739											
MFSD5	84975	genome.wustl.edu	37	chr12	53647345	53647345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgctggaggcctgcgctgCctcctgtcggaccgccgcgt	2	9	15	15	5	0	0	0	0	0	0	2	2	1	2	5	3	3	2	5	3	0	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr12:53647345C>T	ENST00000329548.4	+	2	917	c.726C>T	c.(724-726)tgC>tgT	p.C242C	MFSD5_ENST00000534842.1_Silent_p.C349C	NM_032889.4	NP_116278.3	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	242					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GCCTGCGCTGCCTCCTGTCGG	0.602																																																	0													89	89	89					12																	53647345		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097576	CCDS8851.1, CCDS53796.1	12q13.13	2012-03-09			ENSG00000182544	ENSG00000182544			28156	protein-coding gene	gene with protein product							Standard	NM_032889		Approved	MGC11308	uc001sch.2	Q6N075	OTTHUMG00000170028	ENST00000329548.4:c.726C>T	12.37:g.53647345C>T			G3V1N7|Q6NW04|Q8N7W8|Q8NCK0|Q96IA5	Silent	SNP	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.C349	ENST00000329548.4	37	c.1047	CCDS8851.1	12																																																																																			MFSD5	-	pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000182544		0.602	MFSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD5	HGNC	protein_coding	OTTHUMT00000406896.1		0	79	0	C	NM_032889		53647345	1			no_errors	ENST00000534842	ensembl	human	known	74_37	silent	10.64	42	5	SNP	1.000	T	T	53647345	C	T	53647345	2	4	102	1	0	0	0	0	0	0	0	1	9572	747	26	3		3	MFSD5	12	53647345	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	7416974	53647345	80204550	69	28740											
NCOR2	9612	genome.wustl.edu	37	chr12	124826549	124826549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcggggtagccgcggaTgaggtagggtgggtacaggt	6	8	21	6	4	0	1	0	1	0	0	1	2	0	2	1	7	2	3	1	7	3	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr12:124826549T>C	ENST00000405201.1	-	34	5008	c.5008A>G	c.(5008-5010)Atc>Gtc	p.I1670V	NCOR2_ENST00000356219.3_Missense_Mutation_p.I1677V|NCOR2_ENST00000397355.1_Missense_Mutation_p.I1661V|NCOR2_ENST00000404121.2_Missense_Mutation_p.I1231V|NCOR2_ENST00000404621.1_Missense_Mutation_p.I1660V|NCOR2_ENST00000429285.2_Missense_Mutation_p.I1660V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1678					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TAGCCGCGGATGAGGTAGGGT	0.662																																																	0													43	56	51					12																	124826549		2090	4199	6289	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"nuclear receptor co-repressor 2"			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5008A>G	12.37:g.124826549T>C	ENSP00000384018:p.Ile1670Val		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I1677V	ENST00000405201.1	37	c.5029	CCDS41858.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.63|14.63	2.591599|2.591599	0.46214|0.46214	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000453428|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285	.|T;T;T;T;T;T	.|0.22336	.|1.96;2.23;1.97;2.23;1.98;2.23	4.23|4.23	3.04|3.04	0.35103|0.35103	.|.	.|0.062472	.|0.64402	.|D	.|0.000006	T|T	0.36358|0.36358	0.0964|0.0964	L|L	0.50333|0.50333	1.59|1.59	0.42662|0.42662	D|D	0.993489|0.993489	.|D;P;P	.|0.60575	.|0.988;0.913;0.948	.|D;P;D	.|0.69654	.|0.965;0.891;0.949	T|T	0.06734|0.06734	-1.0810|-1.0810	5|10	.|0.87932	.|D	.|0	-19.6383|-19.6383	10.5697|10.5697	0.45194|0.45194	0.0:0.0:0.1624:0.8376|0.0:0.0:0.1624:0.8376	.|.	.|1660;1661;1670	.|C9J0Q5;C9J239;C9JFD3	.|.;.;.	R|V	18|1670;1660;1677;1661;1669;1231;1660	.|ENSP00000384018:I1670V;ENSP00000384202:I1660V;ENSP00000348551:I1677V;ENSP00000380513:I1661V;ENSP00000385618:I1231V;ENSP00000400281:I1660V	.|ENSP00000348551:I1677V	H|I	-|-	2|1	0|0	NCOR2|NCOR2	123392502|123392502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.120000|4.120000	0.57897|0.57897	0.459000|0.459000	0.27016|0.27016	0.402000|0.402000	0.26972|0.26972	CAT|ATC	NCOR2	-	NULL	ENSG00000196498		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0	179	0	T	NM_006312		124826549	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	missense	53.57	39	45	SNP	1.000	C	C	124826549	T	C	124826549	3	2	102	1	0	0	0	0	1	0	0	0	10275	1464	51	4	2592	4	NCOR2	12	124826549	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	71179204	124826549	9025346	70	28741											
OR11H4	390442	genome.wustl.edu	37	chr14	20711735	20711735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgtggtatctcttttctAtgggacagtcatggtaatgt	7	17	12	5	0	3	0	1	0	2	0	4	1	3	1	0	4	0	3	0	4	3	6			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr14:20711735A>G	ENST00000315409.2	+	1	838	c.785A>G	c.(784-786)tAt>tGt	p.Y262C		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		TCTCTTTTCTATGGGACAGTC	0.423																																																	0													238	228	231					14																	20711735		2203	4300	6503	SO:0001583	missense	0				CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"GPCR / Class A : Olfactory receptors"	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.785A>G	14.37:g.20711735A>G	ENSP00000318997:p.Tyr262Cys		B2RNQ4|Q6IF07	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y262C	ENST00000315409.2	37	c.785	CCDS32034.1	14	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782984	0.31593	.	.	ENSG00000176198	ENST00000315409	T	0.41758	0.99	4.7	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000222	T	0.65647	0.2711	M	0.88105	2.93	0.35598	D	0.807651	D	0.59767	0.986	P	0.62089	0.898	T	0.79072	-0.1953	10	0.72032	D	0.01	-7.807	12.1356	0.53968	1.0:0.0:0.0:0.0	.	262	Q8NGC9	O11H4_HUMAN	C	262	ENSP00000318997:Y262C	ENSP00000318997:Y262C	Y	+	2	0	OR11H4	19781575	0.647000	0.27304	1.000000	0.80357	0.958000	0.62258	0.925000	0.28791	1.971000	0.57363	0.533000	0.62120	TAT	OR11H4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176198		0.423	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H4	HGNC	protein_coding	OTTHUMT00000410678.1	-	0	109	0	A			20711735	1	tier1	-	no_errors	ENST00000315409	ensembl	human	known	74_37	missense	73.08	21	57	SNP	1.000	G	G	20711735	A	G	20711735	3	3	102	1	0	0	0	0	1	0	0	0	10967	449	16	4	787	4	OR11H4	14	20711735	Missense_Mutation	SNP	A	TCGA-LN-A49O-01A-11D-A247-09		20711735	86637805	71	28742											
SERPINA9	327657	genome.wustl.edu	37	chr14	94942497	94942497	+	5'Flank	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggttcctcttctcctgcCctgtccttgcatggttggtg	2	15	11	13	0	2	0	0	0	2	0	5	0	4	0	4	3	2	4	4	3	0	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr14:94942497C>A	ENST00000380365.3	-	0	0				SERPINA9_ENST00000298845.7_Missense_Mutation_p.G5C|SERPINA9_ENST00000337425.5_Missense_Mutation_p.G5C|SERPINA9_ENST00000448305.2_5'UTR|SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000424550.2_5'UTR|SERPINA9_ENST00000546329.1_Missense_Mutation_p.G32V			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		cttctcctgccctgtccttgc	0.542																																																	0													314	318	317					14																	94942497		2070	4219	6289	SO:0001631	upstream_gene_variant	0			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710		14.37:g.94942497C>A	Exception_encountered		B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G5C	ENST00000380365.3	37	c.13		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.423|1.423	-0.572275|-0.572275	0.03882|0.03882	.|.	.|.	ENSG00000170054|ENSG00000170054	ENST00000298845;ENST00000337425|ENST00000546329	D;D|D	0.85629|0.82433	-2.01;-1.91|-1.61	1.55|1.55	-0.501|-0.501	0.12008|0.12008	.|.	.|.	.|.	.|.	.|.	T|T	0.71600|0.71600	0.3359|0.3359	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D|B	0.65815|0.26195	0.987;0.995|0.144	B;B|B	0.43386|0.26517	0.418;0.418|0.07	T|T	0.61317|0.61317	-0.7087|-0.7087	8|8	0.87932|0.87932	D|D	0|0	.|.	3.8529|3.8529	0.08963|0.08963	0.0:0.4876:0.0:0.5124|0.0:0.4876:0.0:0.5124	.|.	5;5|32	Q86WD7-7;Q86WD7-2|Q86WD7-4	.;.|.	C|V	5|32	ENSP00000298845:G5C;ENSP00000337133:G5C|ENSP00000445476:G32V	ENSP00000298845:G5C|ENSP00000441511:G32V	G|G	-|-	1|2	0|0	SERPINA9|SERPINA9	94012250|94012250	0.000000|0.000000	0.05858|0.05858	0.038000|0.038000	0.18304|0.18304	0.020000|0.020000	0.10135|0.10135	-0.179000|-0.179000	0.09768|0.09768	-0.164000|-0.164000	0.10927|0.10927	0.508000|0.508000	0.49915|0.49915	GGC|GGG	SERPINA9	-	NULL	ENSG00000170054		0.542	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	HGNC	protein_coding	OTTHUMT00000395803.2	-	0	140	0	C	NM_175739		94942497	-1	tier1	-	no_errors	ENST00000337425	ensembl	human	known	74_37	missense	26.19	93	33	SNP	0.045	A	A	94942497	C	A	94942497	1	1	102	0	1	0	0	0	0	0	0	0	14140	623	22	3		3	SERPINA9	14	94942497	5'Flank	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	74230762	94942497	12407043	72	28743											
SCAPER	49855	genome.wustl.edu	37	chr15	77096904	77096904	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcttctctagctttTcctgaagctgaatccagtca	8	15	6	12	0	4	2	1	2	3	0	7	2	6	2	2	0	2	2	2	0	3	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr15:77096904T>A	ENST00000563290.1	-	6	559	c.464A>T	c.(463-465)gAa>gTa	p.E155V	SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.E155V			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	155						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTCTAGCTTTTCCTGAAGCTG	0.368																																																	0													121	111	114					15																	77096904		1852	4094	5946	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.464A>T	15.37:g.77096904T>A	ENSP00000454973:p.Glu155Val		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.E155V	ENST00000563290.1	37	c.464	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735899	0.89482	.	.	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.26518	1.73	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	L	0.47716	1.5	0.58432	D	0.999999	D;P	0.89917	1.0;0.864	D;P	0.76575	0.988;0.671	T	0.40346	-0.9568	10	0.72032	D	0.01	.	15.3287	0.74190	0.0:0.0:0.0:1.0	.	155;170	Q6NSF1;Q9BY12-2	.;.	V	155;171	ENSP00000326924:E155V	ENSP00000303560:E171V	E	-	2	0	SCAPER	74883959	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.624000	0.83124	2.011000	0.59026	0.528000	0.53228	GAA	SCAPER	-	NULL	ENSG00000140386		0.368	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0	54	0	T	NM_020843		77096904	-1	tier1	-	no_errors	ENST00000324767	ensembl	human	known	74_37	missense	21.74	18	5	SNP	1.000	A	A	77096904	T	A	77096904	3	1	102	1	0	0	0	0	1	0	0	0	13923	1783	62	5	3884	5	SCAPER	15	77096904	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09		77096904	25434488	73	28744											
DET1	55070	genome.wustl.edu	37	chr15	89074355	89074355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggtgtgaaggtcaatgatAtggagggaatagtcttctag	11	11	14	5	1	3	2	1	2	2	0	3	4	3	4	1	4	0	0	1	4	6	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr15:89074355A>G	ENST00000268148.8	-	2	727	c.582T>C	c.(580-582)caT>caC	p.H194H	DET1_ENST00000564406.1_Silent_p.H205H|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Silent_p.H205H|DET1_ENST00000558413.1_Intron	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	194						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGTCAATGATATGGAGGGAAT	0.493																																																	0													59	58	58					15																	89074355		1956	4131	6087	SO:0001819	synonymous_variant	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.582T>C	15.37:g.89074355A>G			B3KNN6|Q2VPC0|Q9NWD5	Silent	SNP	pfam_De-etiolated_protein_1_Det1	p.H205	ENST00000268148.8	37	c.615	CCDS45344.1	15																																																																																			DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.493	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	-	0	82	0	A	NM_017996		89074355	-1	tier1	-	no_errors	ENST00000444300	ensembl	human	known	74_37	silent	42.19	37	27	SNP	0.838	G	G	89074355	A	G	89074355	2	3	102	1	0	0	0	0	0	0	0	1	4464	446	16	4		4	DET1	15	89074355	Silent	SNP	A	TCGA-LN-A49O-01A-11D-A247-09	11977451	89074355	13457037	74	28745											
CNOT1	23019	genome.wustl.edu	37	chr16	58615277	58615277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatgtttccaaggtctaTatatgaggtctactgggaac	11	12	10	8	0	2	1	0	1	2	0	3	2	3	2	1	3	3	2	1	3	6	5			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr16:58615277T>C	ENST00000317147.5	-	11	1519	c.1187A>G	c.(1186-1188)tAt>tGt	p.Y396C	CNOT1_ENST00000569240.1_Missense_Mutation_p.Y396C|CNOT1_ENST00000441024.2_Missense_Mutation_p.Y396C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	396					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAAGGTCTATATATGAGGTC	0.413																																																	0													113	104	107					16																	58615277		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1187A>G	16.37:g.58615277T>C	ENSP00000320949:p.Tyr396Cys		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.Y396C	ENST00000317147.5	37	c.1187	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599505	0.66332	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.47869	0.87;0.83	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.66257	0.2771	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.998;0.999	T	0.65990	-0.6034	9	.	.	.	-3.0954	15.9193	0.79547	0.0:0.0:0.0:1.0	.	396;396;396	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	396	ENSP00000320949:Y396C;ENSP00000413113:Y396C	.	Y	-	2	0	CNOT1	57172778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.968000	0.87980	2.158000	0.67659	0.533000	0.62120	TAT	CNOT1	-	NULL	ENSG00000125107		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0	88	0	T	NM_016284		58615277	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	23.40	36	11	SNP	1.000	C	C	58615277	T	C	58615277	3	2	102	1	0	0	0	0	1	0	0	0	3624	1406	49	4	6321	4	CNOT1	16	58615277	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09		58615277	31739476	75	28746											
CIRH1A	84916	genome.wustl.edu	37	chr16	69173784	69173785	+	Frame_Shift_Ins	INS	-	-	T																															ccacattgcagctggttccaINStagactacattagtgtgttt																										TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr16:69173784_69173785insT	ENST00000314423.7	+	5	670_671	c.493_494insT	c.(493-495)atafs	p.I165fs	CIRH1A_ENST00000563094.1_Frame_Shift_Ins_p.I165fs|CIRH1A_ENST00000352319.4_Frame_Shift_Ins_p.I165fs			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	165					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		AGCTGGTTCCATAGACTACATT	0.411																																					Melanoma(69;1156 1278 4951 8715 52012)												0																																										SO:0001589	frameshift_variant	0			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"WD repeat domain containing"	1983	protein-coding gene	gene with protein product	"UTP4, small subunit (SSU) processome component, homolog (yeast)"	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.494dupT	16.37:g.69173785_69173785dupT	ENSP00000327179:p.Ile165fs		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D166fs	ENST00000314423.7	37	c.493_494	CCDS10872.1	16																																																																																			CIRH1A	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000141076		0.411	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIRH1A	HGNC	protein_coding	OTTHUMT00000268950.2		0	115	0	-	NM_032830		69173785	1	tier1		no_errors	ENST00000314423	ensembl	human	known	74_37	frame_shift_ins	21.43	33	9	INS	1.000:1.000	T	T	69173785	-	T	69173784	7	5	102	1	0	1	1	0	0	0	0	0	3441	217	8	0	507	0	CIRH1A	16	69173784	Frame_Shift_Ins	INS	-	TCGA-LN-A49O-01A-11D-A247-09	10558507	69173784	21180969	76	28747											
CHST5	23563	genome.wustl.edu	37	chr16	75563364	75563364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggcgtagagtgcgcGgatctctgccagcggctccc	6	7	16	12	4	1	2	0	1	1	1	3	3	2	3	2	4	3	2	2	4	2	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr16:75563364G>A	ENST00000336257.3	-	3	2313	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.R313C	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	307					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TAGAGTGCGCGGATCTCTGCC	0.697																																																	0													55	59	58					16																	75563364		2194	4296	6490	SO:0001583	missense	0			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"Sulfotransferases, membrane-bound"	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.919C>T	16.37:g.75563364G>A	ENSP00000338783:p.Arg307Cys		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.R313C	ENST00000336257.3	37	c.937	CCDS10919.1	16	.	.	.	.	.	.	.	.	.	.	G	6.298	0.423051	0.11928	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	T;T	0.26810	1.71;1.71	2.84	1.86	0.25419	Sulfotransferase domain (1);	0.828220	0.11181	N	0.590974	T	0.42630	0.1211	M	0.68317	2.08	0.23293	N	0.997967	D;D	0.69078	0.996;0.997	P;D	0.65443	0.894;0.935	T	0.18967	-1.0320	10	0.72032	D	0.01	.	5.6375	0.17544	0.1087:0.0:0.5524:0.3389	.	313;307	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	C	307;313	ENSP00000338783:R307C;ENSP00000441220:R313C	ENSP00000338783:R307C	R	-	1	0	CHST5	74120865	0.246000	0.23909	0.421000	0.26609	0.100000	0.18952	0.367000	0.20382	0.082000	0.17018	-2.281000	0.00270	CGC	CHST5	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000135702		0.697	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	-	0	46	0	G	NM_012126		75563364	-1	tier1	-	no_errors	ENST00000541075	ensembl	human	known	74_37	missense	31.82	15	7	SNP	0.016	A	A	75563364	G	A	75563364	3	1	102	1	0	0	0	0	1	0	0	0	3414	1116	39	1	320	1	CHST5	16	75563364	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	6389580	75563364	14791389	77	28748											
CDH13	1012	genome.wustl.edu	37	chr16	83711879	83711879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaaatgaagacccactcGtacccgacgtctcctacggc	11	7	9	14	4	1	2	0	1	1	1	3	4	1	3	3	2	2	1	3	2	5	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr16:83711879G>A	ENST00000566620.1	+	10	1641	c.1351G>A	c.(1351-1353)Gta>Ata	p.V451I	CDH13_ENST00000268613.10_Missense_Mutation_p.V498I|CDH13_ENST00000428848.3_Missense_Mutation_p.V412I	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	451	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGACCCACTCGTACCCGACGT	0.547																																																	0													76	83	80					16																	83711879		2066	4193	6259	SO:0001583	missense	0			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"Cadherins / Major cadherins"	1753	protein-coding gene	gene with protein product	"T-cadherin", "H-cadherin (heart)"	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1351G>A	16.37:g.83711879G>A	ENSP00000454435:p.Val451Ile		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V451I	ENST00000566620.1	37	c.1351	CCDS58486.1	16	.	.	.	.	.	.	.	.	.	.	G	9.916	1.210750	0.22289	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.58506	0.33	4.88	4.88	0.63580	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.36936	0.0985	N	0.17723	0.515	0.80722	D	1	B;B;B	0.24721	0.012;0.11;0.06	B;B;B	0.18871	0.006;0.022;0.023	T	0.21895	-1.0232	9	0.23302	T	0.38	.	7.135	0.25523	0.1934:0.0:0.8066:0.0	.	412;498;451	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	I	498;451;412;153;141	ENSP00000268613:V498I	ENSP00000268613:V498I	V	+	1	0	CDH13	82269380	1.000000	0.71417	0.978000	0.43139	0.592000	0.36648	2.787000	0.47798	2.265000	0.75225	0.591000	0.81541	GTA	CDH13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000140945		0.547	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH13	HGNC	protein_coding	OTTHUMT00000432917.1	-	0	76	0	G	NM_001257		83711879	1	tier1	-	no_errors	ENST00000566620	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	A	A	83711879	G	A	83711879	3	1	102	1	0	0	0	0	1	0	0	0	3106	1145	40	1	1389	1	CDH13	16	83711879	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	8148515	83711879	6642874	78	28749											
SMYD4	114826	genome.wustl.edu	37	chr17	1704284	1704284	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctttctggatacccaTgtgtctgtgctctgttaatg	7	15	9	10	0	3	0	0	0	3	0	3	1	3	1	2	1	3	3	2	1	3	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr17:1704284T>A	ENST00000305513.7	-	5	571	c.404A>T	c.(403-405)cAt>cTt	p.H135L		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	135							metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TGGATACCCATGTGTCTGTGC	0.443																																																	0													152	153	153					17																	1704284		2203	4300	6503	SO:0001583	missense	0			AB067523	CCDS11013.1	17p13.3	2004-04-21			ENSG00000186532	ENSG00000186532		"Zinc fingers, MYND-type"	21067	protein-coding gene	gene with protein product						11572484	Standard	NM_052928		Approved	KIAA1936, ZMYND21	uc002ftm.4	Q8IYR2	OTTHUMG00000090570	ENST00000305513.7:c.404A>T	17.37:g.1704284T>A	ENSP00000304360:p.His135Leu		Q8N1P2|Q8NAT0|Q96LV4|Q96PV2	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND	p.H135L	ENST00000305513.7	37	c.404	CCDS11013.1	17	.	.	.	.	.	.	.	.	.	.	T	15.14	2.743589	0.49151	.	.	ENSG00000186532	ENST00000305513	T	0.14766	2.48	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);	0.304252	0.41001	D	0.000967	T	0.20861	0.0502	N	0.21373	0.66	0.58432	D	0.999994	D	0.71674	0.998	D	0.68039	0.955	T	0.08764	-1.0706	10	0.10902	T	0.67	-20.006	15.6593	0.77169	0.0:0.0:0.0:1.0	.	135	Q8IYR2	SMYD4_HUMAN	L	135	ENSP00000304360:H135L	ENSP00000304360:H135L	H	-	2	0	SMYD4	1651034	1.000000	0.71417	0.851000	0.33527	0.024000	0.10985	5.718000	0.68455	2.288000	0.76882	0.528000	0.53228	CAT	SMYD4	-	NULL	ENSG00000186532		0.443	SMYD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD4	HGNC	protein_coding	OTTHUMT00000207108.4		0	45	0	T	XM_056082		1704284	-1			no_errors	ENST00000305513	ensembl	human	known	74_37	missense	6.67	4	4	SNP	1.000	A	A	1704284	T	A	1704284	3	1	102	1	0	0	0	0	1	0	0	0	14869	1464	51	5	2038	5	SMYD4	17	1704284	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09		1704284	79490926	79	28750											
TP53	7157	genome.wustl.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49	49	49					17																	7578403		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C176Y	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	42	0	C	NM_000546		7578403	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	78.57	6	22	SNP	1.000	T	T	7578403	C	T	7578403	3	4	102	1	0	0	0	0	1	0	0	0	16429	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	5874119	7578403	73616807	80	28751											
RAI1	10743	genome.wustl.edu	37	chr17	17701660	17701660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaggaggcagccccagccGacaagggtcgcaaacatgag	12	2	15	12	3	0	1	0	1	0	0	1	4	0	2	3	3	3	2	3	3	2	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr17:17701660G>A	ENST00000353383.1	+	3	5867	c.5398G>A	c.(5398-5400)Gac>Aac	p.D1800N	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1800					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCCCAGCCGACAAGGGTCG	0.711																																																	0																																										SO:0001583	missense	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"Smith-Magenis syndrome chromosome region"	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.5398G>A	17.37:g.17701660G>A	ENSP00000323074:p.Asp1800Asn		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.D1800N	ENST00000353383.1	37	c.5398	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735449	0.69189	.	.	ENSG00000108557	ENST00000353383;ENST00000395776;ENST00000315321	T	0.68331	-0.32	4.56	4.56	0.56223	.	0.081778	0.52532	D	0.000078	T	0.57213	0.2038	N	0.19112	0.55	0.80722	D	1	D	0.58268	0.982	P	0.44772	0.46	T	0.66044	-0.6021	10	0.66056	D	0.02	.	17.5171	0.87777	0.0:0.0:1.0:0.0	.	1800	Q7Z5J4	RAI1_HUMAN	N	1800;1800;1688	ENSP00000323074:D1800N	ENSP00000322928:D1688N	D	+	1	0	RAI1	17642385	1.000000	0.71417	0.980000	0.43619	0.443000	0.32047	3.790000	0.55461	2.387000	0.81309	0.561000	0.74099	GAC	RAI1	-	NULL	ENSG00000108557		0.711	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	-	0	56	0	G	NM_030665		17701660	1	tier1	-	no_errors	ENST00000353383	ensembl	human	known	74_37	missense	25.00	24	8	SNP	1.000	A	A	17701660	G	A	17701660	3	1	102	1	0	0	0	0	1	0	0	0	13052	1058	37	1	5400	1	RAI1	17	17701660	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	10123257	17701660	63493550	81	28752											
TADA2A	6871	genome.wustl.edu	37	chr17	35800613	35800613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaatcctctaggcaggatGtagccaatcaaatgtgcacc	13	8	8	12	0	2	0	1	0	1	0	3	1	3	1	3	2	2	3	3	2	5	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr17:35800613G>T	ENST00000394395.2	+	6	465	c.292G>T	c.(292-294)Gta>Tta	p.V98L	TADA2A_ENST00000225396.6_Missense_Mutation_p.V98L|TADA2A_ENST00000417170.1_Missense_Mutation_p.V98L|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Missense_Mutation_p.V98L	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	98	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TAGGCAGGATGTAGCCAATCA	0.393																																																	0													102	85	91					17																	35800613		2203	4300	6503	SO:0001583	missense	0			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"transcriptional adaptor 2 (ADA2 homolog, yeast)-like"	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.292G>T	17.37:g.35800613G>T	ENSP00000377918:p.Val98Leu		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom	p.V98L	ENST00000394395.2	37	c.292	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.441522	0.96187	.	.	ENSG00000108264	ENST00000394395;ENST00000225396;ENST00000417170	T;T;T	0.52295	0.67;0.67;0.67	5.42	5.42	0.78866	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.85630	2.765	0.80722	D	1	D;D	0.62365	0.991;0.981	P;P	0.59643	0.861;0.832	T	0.75926	-0.3145	10	0.72032	D	0.01	-16.2868	19.2126	0.93763	0.0:0.0:1.0:0.0	.	98;98	O75478-2;O75478	.;TAD2A_HUMAN	L	98	ENSP00000377918:V98L;ENSP00000225396:V98L;ENSP00000406699:V98L	ENSP00000225396:V98L	V	+	1	0	TADA2A	32874726	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.538000	0.85594	0.561000	0.74099	GTA	TADA2A	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom	ENSG00000108264		0.393	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	-	0	65	0	G	NM_001488		35800613	1	tier1	-	no_errors	ENST00000225396	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T	T	35800613	G	T	35800613	3	4	102	1	0	0	0	0	1	0	0	0	15557	1377	48	3	310	3	TADA2A	17	35800613	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	18098953	35800613	45394597	82	28753											
MPO	4353	genome.wustl.edu	37	chr17	56356572	56356572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcgttggagaccgcgcGagcctgcgggacacggagat	8	6	16	11	6	1	2	0	0	1	2	2	7	1	3	2	3	2	1	2	3	0	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr17:56356572G>T	ENST00000225275.3	-	6	858	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	MPO_ENST00000340482.3_Missense_Mutation_p.R260S|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	228					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GAGACCGCGCGAGCCTGCGGG	0.692																																																	0													29	30	30					17																	56356572		2201	4297	6498	SO:0001583	missense	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.682C>A	17.37:g.56356572G>T	ENSP00000225275:p.Arg228Ser		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R260S	ENST00000225275.3	37	c.778	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366314	0.82463	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72942	-0.7;-0.7	5.37	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.81927	0.4926	H	0.98314	4.2	0.80722	D	1	P	0.41569	0.755	B	0.43445	0.42	D	0.86433	0.1762	10	0.87932	D	0	-26.3161	9.1113	0.36730	0.0773:0.0:0.7754:0.1474	.	228	P05164	PERM_HUMAN	S	260;228	ENSP00000344419:R260S;ENSP00000225275:R228S	ENSP00000225275:R228S	R	-	1	0	MPO	53711571	1.000000	0.71417	0.926000	0.36857	0.620000	0.37586	3.626000	0.54245	2.536000	0.85505	0.462000	0.41574	CGC	MPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000005381		0.692	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0	28	0	G			56356572	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.999	T	T	56356572	G	T	56356572	3	4	102	1	0	0	0	0	1	0	0	0	9770	1058	37	2	1583	2	MPO	17	56356572	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	20555959	56356572	24838638	83	28754											
RNF213	57674	genome.wustl.edu	37	chr17	78360667	78360667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgtcagccgcttcctccaGggcaagccccggctgagcct	6	7	11	17	3	1	1	1	1	0	0	4	1	3	1	6	2	3	3	6	2	1	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr17:78360667G>T	ENST00000582970.1	+	63	15041	c.14898G>T	c.(14896-14898)caG>caT	p.Q4966H	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.Q5015H|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.Q3039H|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4966					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCTTCCTCCAGGGCAAGCCCC	0.582																																																	0													28	26	27					17																	78360667		2203	4300	6503	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14898G>T	17.37:g.78360667G>T	ENSP00000464087:p.Gln4966His		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q4966H	ENST00000582970.1	37	c.14898	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551517	0.65311	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.23348	1.91	5.04	4.06	0.47325	.	0.156815	0.44097	D	0.000496	T	0.47691	0.1459	M	0.82517	2.595	0.30806	N	0.739353	D	0.89917	1.0	D	0.70935	0.971	T	0.49753	-0.8906	10	0.24483	T	0.36	.	10.0831	0.42401	0.1553:0.0:0.8447:0.0	.	3039	Q63HN8	RN213_HUMAN	H	4966;5015;3039;316	ENSP00000338218:Q3039H	ENSP00000338218:Q3039H	Q	+	3	2	RNF213	75975262	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	1.582000	0.36568	2.353000	0.79882	0.561000	0.74099	CAG	RNF213	-	NULL	ENSG00000173821		0.582	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0	34	0	G	NM_020914		78360667	1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	70.00	6	14	SNP	1.000	T	T	78360667	G	T	78360667	3	4	102	1	0	0	0	0	1	0	0	0	13522	991	35	3	15463	3	RNF213	17	78360667	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	22004095	78360667	2834543	84	28755											
CEP192	55125	genome.wustl.edu	37	chr18	13015442	13015442	+	5'UTR	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accgacaagcttggaagattCttctggtactgcagagtaac	12	10	10	9	1	2	2	0	0	2	2	2	4	2	3	1	2	4	4	1	2	4	5			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr18:13015442C>G	ENST00000325971.8	+	0	715				CEP192_ENST00000506447.1_Missense_Mutation_p.S212C			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa						centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGGAAGATTCTTCTGGTACT	0.403																																																	0													145	112	122					18																	13015442		692	1591	2283	SO:0001623	5_prime_UTR_variant	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.-879C>G	18.37:g.13015442C>G			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.S212C	ENST00000325971.8	37	c.635		18	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619465	0.46736	.	.	ENSG00000101639	ENST00000506447	T	0.09073	3.02	4.6	4.6	0.57074	.	.	.	.	.	T	0.18425	0.0442	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00485	-1.1711	9	0.66056	D	0.02	.	13.1207	0.59325	0.0:1.0:0.0:0.0	.	212	E9PF99	.	C	212	ENSP00000427550:S212C	ENSP00000427550:S212C	S	+	2	0	CEP192	13005442	0.044000	0.20184	0.986000	0.45419	0.319000	0.28217	0.539000	0.23175	2.544000	0.85801	0.563000	0.77884	TCT	CEP192	-	NULL	ENSG00000101639		0.403	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		-	0	38	0	C	NM_032142		13015442	1	tier1	-	no_errors	ENST00000506447	ensembl	human	known	74_37	missense	57.89	8	11	SNP	0.995	G	G	13015442	C	G	13015442	1	3	102	0	1	0	0	0	0	0	0	0	3258	913	32	5		5	CEP192	18	13015442	5'UTR	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		13015442	65061806	85	28756											
ZNF554	115196	genome.wustl.edu	37	chr19	2834252	2834252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccggaggcattctttgaGcgaacatcaaagaattcaca	15	8	8	10	2	3	2	2	1	1	1	3	4	3	3	1	2	3	1	1	2	4	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr19:2834252G>T	ENST00000317243.5	+	5	1217	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTCTTTGAGCGAACATCAA	0.537																																																	0													67	74	72					19																	2834252		2067	4237	6304	SO:0001583	missense	0			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"Zinc fingers, C2H2-type", "-"	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1019G>T	19.37:g.2834252G>T	ENSP00000321132:p.Ser340Ile		Q8NAT3|Q9BWN3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S340I	ENST00000317243.5	37	c.1019	CCDS42462.1	19	.	.	.	.	.	.	.	.	.	.	G	4.056	0.008119	0.07912	.	.	ENSG00000172006	ENST00000317243	T	0.07908	3.15	2.65	0.0559	0.14317	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04634	0.0126	N	0.25426	0.745	0.09310	N	1	B	0.25272	0.122	B	0.21546	0.035	T	0.46091	-0.9216	9	0.11485	T	0.65	.	4.7922	0.13254	0.0:0.2057:0.3758:0.4185	.	340	Q86TJ5	ZN554_HUMAN	I	340	ENSP00000321132:S340I	ENSP00000321132:S340I	S	+	2	0	ZNF554	2785252	0.000000	0.05858	0.070000	0.20053	0.472000	0.32918	-1.746000	0.01829	0.437000	0.26423	0.573000	0.79308	AGC	ZNF554	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172006		0.537	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF554	HGNC	protein_coding	OTTHUMT00000451598.3		0	23	0	G	NM_152303		2834252	1			no_errors	ENST00000317243	ensembl	human	known	74_37	missense	11.76	15	2	SNP	0.000	T	T	2834252	G	T	2834252	3	4	102	1	0	0	0	0	1	0	0	0	18033	971	34	3	1037	3	ZNF554	19	2834252	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09		2834252	56294731	86	28757											
ZNF709	163051	genome.wustl.edu	37	chr19	12576489	12576489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatttggagtctgactgaTggtttctccaaactgactac	10	13	10	8	0	2	3	0	3	2	0	3	5	2	5	1	3	2	1	1	3	2	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr19:12576489T>C	ENST00000397732.3	-	4	418	c.247A>G	c.(247-249)Atc>Gtc	p.I83V	ZNF709_ENST00000428311.1_Missense_Mutation_p.I83V|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTCTGACTGATGGTTTCTCCA	0.368																																					GBM(33;565 669 12371 29134 51667)												0													102	87	92					19																	12576489		1864	4107	5971	SO:0001583	missense	0			AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"Zinc fingers, C2H2-type", "-"	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.247A>G	19.37:g.12576489T>C	ENSP00000380840:p.Ile83Val		A8K4E6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I83V	ENST00000397732.3	37	c.247	CCDS42504.1	19	.	.	.	.	.	.	.	.	.	.	T	9.062	0.994703	0.19043	.	.	ENSG00000242852;ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000455490;ENST00000428311	T;T;T	0.05382	3.45;5.31;3.45	3.1	-6.19	0.02078	Krueppel-associated box (1);	2.928650	0.01777	N	0.031517	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37291	-0.9712	10	0.59425	D	0.04	.	8.1297	0.31020	0.1335:0.24:0.0:0.6266	.	83	Q8N972	ZN709_HUMAN	V	83;112;83	ENSP00000380840:I83V;ENSP00000398085:I112V;ENSP00000404127:I83V	ENSP00000404127:I83V	I	-	1	0	ZNF709;CTD-2192J16.17	12437489	0.000000	0.05858	0.000000	0.03702	0.477000	0.33069	-0.273000	0.08548	-3.489000	0.00153	0.260000	0.18958	ATC	ZNF709	-	pfscan_Krueppel-associated_box	ENSG00000242852		0.368	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF709	HGNC	protein_coding	OTTHUMT00000344088.1	-	0	79	0	T	NM_152601		12576489	-1	tier1	-	no_errors	ENST00000397732	ensembl	human	known	74_37	missense	51.72	28	30	SNP	0.000	C	C	12576489	T	C	12576489	3	2	102	1	0	0	0	0	1	0	0	0	18161	1464	51	4	1682	4	ZNF709	19	12576489	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	9742237	12576489	46552494	87	28758											
GLT25D1	79709	genome.wustl.edu	37	chr19	17692130	17692130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatggaacaatgagcacgtCaagaccgactgggaccgcgc	12	5	13	11	4	1	2	1	1	0	1	1	5	1	4	2	2	2	2	2	2	4	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr19:17692130C>T	ENST00000252599.4	+	12	1866	c.1746C>T	c.(1744-1746)gtC>gtT	p.V582V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	582					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										ATGAGCACGTCAAGACCGACT	0.592																																																	0													143	115	124					19																	17692130		2203	4300	6503	SO:0001819	synonymous_variant	0			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"glycosyltransferase 25 domain containing 1"	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1746C>T	19.37:g.17692130C>T			Q8NC64	Silent	SNP	pfam_Glyco_trans_25	p.V582	ENST00000252599.4	37	c.1746	CCDS12363.1	19																																																																																			COLGALT1	-	NULL	ENSG00000130309		0.592	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLGALT1	HGNC	protein_coding	OTTHUMT00000464216.1	-	0	42	0	C	NM_024656		17692130	1	tier1	-	no_errors	ENST00000252599	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.979	T	T	17692130	C	T	17692130	2	4	102	1	0	0	0	0	0	0	0	1	6492	813	29	3		3	GLT25D1	19	17692130	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	5115641	17692130	41436853	88	28759											
ARRDC2	27106	genome.wustl.edu	37	chr19	18119840	18119840	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctactgtatcaaggccacCctgcaccggccctgggtccc	6	7	10	18	2	1	0	1	0	0	0	2	0	2	0	5	3	2	3	5	3	3	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr19:18119840C>A	ENST00000222250.4	+	3	545	c.402C>A	c.(400-402)acC>acA	p.T134T	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Silent_p.T129T	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	134					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TCAAGGCCACCCTGCACCGGC	0.617																																																	0													61	56	58					19																	18119840		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.402C>A	19.37:g.18119840C>A			B2RBG9|O95895|Q6ZRV9|Q8WYG6	Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.T134	ENST00000222250.4	37	c.402	CCDS12370.1	19																																																																																			ARRDC2	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000105643		0.617	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC2	HGNC	protein_coding	OTTHUMT00000466845.1	-	0	79	0	C	NM_015683		18119840	1	tier1	-	no_errors	ENST00000222250	ensembl	human	known	74_37	silent	45.76	31	27	SNP	0.998	A	A	18119840	C	A	18119840	2	1	102	1	0	0	0	0	0	0	0	1	984	610	22	3		3	ARRDC2	19	18119840	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	427710	18119840	41009143	89	28760											
CATSPERG	57828	genome.wustl.edu	37	chr19	38837227	38837227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgactgacaccagcttcaaGgacttctctctcgtggaggt	9	11	10	11	1	3	2	1	2	2	0	5	4	3	4	1	3	1	1	1	3	1	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr19:38837227G>T	ENST00000409235.3	+	7	922	c.807G>T	c.(805-807)aaG>aaT	p.K269N	CATSPERG_ENST00000410018.1_Missense_Mutation_p.K269N|CATSPERG_ENST00000215069.4_Missense_Mutation_p.K254N|snoU13_ENST00000459333.1_RNA|CATSPERG_ENST00000467739.1_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	269					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCAGCTTCAAGGACTTCTCTC	0.597																																																	0													130	112	117					19																	38837227		692	1591	2283	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.807G>T	19.37:g.38837227G>T	ENSP00000386962:p.Lys269Asn		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.K269N	ENST00000409235.3	37	c.807	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923794	0.34002	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.63	0.814	0.18756	.	1.563450	0.03425	N	0.206959	T	0.26629	0.0651	L	0.47716	1.5	0.09310	N	1	B;P	0.37276	0.358;0.589	B;B	0.36608	0.215;0.229	T	0.18587	-1.0332	10	0.44086	T	0.13	-1.7973	2.6594	0.05021	0.1646:0.1445:0.5419:0.149	.	269;269	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	N	269;269;269;254	ENSP00000387057:K269N;ENSP00000386962:K269N;ENSP00000386950:K269N;ENSP00000215069:K254N	ENSP00000215069:K254N	K	+	3	2	CATSPERG	43529067	0.165000	0.22948	0.001000	0.08648	0.278000	0.26855	0.212000	0.17497	0.310000	0.22990	0.491000	0.48974	AAG	CATSPERG	-	NULL	ENSG00000099338		0.597	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	-	0	62	0	G	NM_021185		38837227	1	tier1	-	no_errors	ENST00000409235	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.002	T	T	38837227	G	T	38837227	3	4	102	1	0	0	0	0	1	0	0	0	2699	991	35	3	829	3	CATSPERG	19	38837227	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	20717387	38837227	20291756	90	28761											
ZNF221	7638	genome.wustl.edu	37	chr19	44470083	44470083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaactccataaggaacagCtctcagttcttcaaagaagg	16	8	7	10	0	3	1	2	0	2	1	5	2	4	2	1	2	3	2	1	2	6	3			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr19:44470083C>T	ENST00000251269.5	+	6	757	c.429C>T	c.(427-429)agC>agT	p.S143S	ZNF221_ENST00000587682.1_Silent_p.S143S|ZNF221_ENST00000592350.1_Silent_p.S143S	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TAAGGAACAGCTCTCAGTTCT	0.443																																																	0													105	93	97					19																	44470083		2203	4300	6503	SO:0001819	synonymous_variant	0			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"Zinc fingers, C2H2-type", "-"	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.429C>T	19.37:g.44470083C>T			B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S143	ENST00000251269.5	37	c.429	CCDS12633.1	19																																																																																			ZNF221	-	NULL	ENSG00000159905		0.443	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	-	0	76	0	C			44470083	1	tier1	-	no_errors	ENST00000251269	ensembl	human	known	74_37	silent	40.00	15	10	SNP	0.001	T	T	44470083	C	T	44470083	2	4	102	1	0	0	0	0	0	0	0	1	17823	796	28	3		3	ZNF221	19	44470083	Silent	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	5632856	44470083	14658900	91	28762											
SYMPK	8189	genome.wustl.edu	37	chr19	46333319	46333319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcgcacacctgggctGccccgctgcaggccacagcc	6	3	14	18	2	0	0	0	0	0	0	0	0	0	0	5	4	3	5	5	4	0	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr19:46333319G>T	ENST00000245934.7	-	13	1986	c.1742C>A	c.(1741-1743)gCa>gAa	p.A581E	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	581					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CACCTGGGCTGCCCCGCTGCA	0.647																																																	0													13	12	12					19																	46333319		2163	4188	6351	SO:0001583	missense	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1742C>A	19.37:g.46333319G>T	ENSP00000245934:p.Ala581Glu		O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.A581E	ENST00000245934.7	37	c.1742	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975907	0.74360	.	.	ENSG00000125755	ENST00000245934	.	.	.	6.14	6.14	0.99180	Armadillo-type fold (1);	0.100775	0.64402	D	0.000002	T	0.63141	0.2486	L	0.42245	1.32	0.53005	D	0.999965	D;P	0.62365	0.991;0.804	P;B	0.51806	0.68;0.274	T	0.63373	-0.6652	9	0.62326	D	0.03	.	18.3535	0.90348	0.0:0.0:1.0:0.0	.	596;581	Q4LE61;Q92797	.;SYMPK_HUMAN	E	581	.	ENSP00000245934:A581E	A	-	2	0	SYMPK	51025159	1.000000	0.71417	0.980000	0.43619	0.962000	0.63368	6.655000	0.74392	2.937000	0.99478	0.650000	0.86243	GCA	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.647	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	-	0	95	0	G	NM_004819		46333319	-1	tier1	-	no_errors	ENST00000245934	ensembl	human	known	74_37	missense	13.56	51	8	SNP	0.997	T	T	46333319	G	T	46333319	3	4	102	1	0	0	0	0	1	0	0	0	15486	1319	46	3	2142	3	SYMPK	19	46333319	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	1863236	46333319	12795664	92	28763											
HNF4A	3172	genome.wustl.edu	37	chr20	43058230	43058230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccctataagctcctgccGggagccgtcgccacaatcgt	8	7	11	15	4	0	0	0	0	0	0	3	2	1	1	5	1	4	1	5	1	3	2	rs377052026		TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr20:43058230G>A	ENST00000316099.4	+	10	1439	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P	HNF4A_ENST00000316673.4_Silent_p.P428P|HNF4A_ENST00000457232.1_Silent_p.P418P|HNF4A_ENST00000415691.2_Silent_p.P440P	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	450					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCTCCTGCCGGGAGCCGTCG	0.642													G|||	1	0.000199681	0	0.0014	5008	,	,		13126	0		0	False		,,,				2504	0				Colon(79;2 1269 8820 14841 52347)												0								G	,,,	0,4406		0,0,2203	79	84	82		1350,1254,1284,1320	-2.8	1	20		82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HNF4A	NM_000457.3,NM_001030003.1,NM_175914.3,NM_178849.1	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	450/475,418/443,428/453,440/465	43058230	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1350G>A	20.37:g.43058230G>A			A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.P450	ENST00000316099.4	37	c.1350	CCDS13330.1	20																																																																																			HNF4A	-	NULL	ENSG00000101076		0.642	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	-	0	108	0	G			43058230	1	tier1	-	no_errors	ENST00000316099	ensembl	human	known	74_37	silent	41.67	49	35	SNP	0.944	A	A	43058230	G	A	43058230	2	1	102	1	0	0	0	0	0	0	0	1	7280	1103	39	1		1	HNF4A	20	43058230	Silent	SNP	G	TCGA-LN-A49O-01A-11D-A247-09		43058230	19967290	93	28764											
ADA	100	genome.wustl.edu	37	chr20	43255195	43255195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccctctttggccttcatCtctacaaactcataggcgat	9	12	6	14	2	4	0	2	0	2	0	5	1	4	0	2	2	2	0	2	2	3	4			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr20:43255195C>A	ENST00000372874.4	-	4	398	c.264G>T	c.(262-264)gaG>gaT	p.E88D	ADA_ENST00000464097.1_5'Flank|ADA_ENST00000537820.1_Missense_Mutation_p.E88D	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	88					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGGCCTTCATCTCTACAAACT	0.577									Adenosine Deaminase Deficiency																																								0													173	127	143					20																	43255195		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.264G>T	20.37:g.43255195C>A	ENSP00000361965:p.Glu88Asp		Q53F92|Q6LA59	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.E88D	ENST00000372874.4	37	c.264	CCDS13335.1	20	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429620	0.43122	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.95980	-3.87;-3.87	5.05	5.05	0.67936	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.91920	3.255	0.80722	D	1	D	0.53151	0.958	P	0.52159	0.691	D	0.96716	0.9529	10	0.66056	D	0.02	0.2803	9.0285	0.36245	0.0:0.7916:0.0:0.2084	.	88	P00813	ADA_HUMAN	D	88	ENSP00000361965:E88D;ENSP00000441818:E88D	ENSP00000361965:E88D	E	-	3	2	ADA	42688609	1.000000	0.71417	0.962000	0.40283	0.002000	0.02628	1.230000	0.32612	2.504000	0.84457	0.655000	0.94253	GAG	ADA	-	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	ENSG00000196839		0.577	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2		0	58	0	C	NM_000022		43255195	-1			no_errors	ENST00000372874	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	43255195	C	A	43255195	3	1	102	1	0	0	0	0	1	0	0	0	230	912	32	3	863	3	ADA	20	43255195	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09	196965	43255195	19770325	94	28765											
PREX1	57580	genome.wustl.edu	37	chr20	47251277	47251277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtccagctctgacagcgTcacccagatgtcctccagca	9	9	8	15	1	2	2	1	1	1	1	5	2	5	2	4	0	3	2	4	0	0	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr20:47251277T>C	ENST00000371941.3	-	33	4226	c.4204A>G	c.(4204-4206)Acg>Gcg	p.T1402A	PREX1_ENST00000396220.1_Missense_Mutation_p.T1402A	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1402					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTGACAGCGTCACCCAGATG	0.557																																																	0													142	102	116					20																	47251277		2203	4300	6503	SO:0001583	missense	0			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.4204A>G	20.37:g.47251277T>C	ENSP00000361009:p.Thr1402Ala		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.T1402A	ENST00000371941.3	37	c.4204	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	T	5.631	0.301201	0.10678	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.49139	0.79;0.79	5.22	1.65	0.23941	.	0.000000	0.56097	U	0.000030	T	0.19485	0.0468	N	0.05078	-0.115	0.39156	D	0.962314	B;B	0.09022	0.0;0.002	B;B	0.10450	0.001;0.005	T	0.29088	-1.0023	10	0.02654	T	1	.	8.3319	0.32191	0.0:0.2432:0.0:0.7568	.	1402;699	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	A	1402	ENSP00000361009:T1402A;ENSP00000379522:T1402A	ENSP00000361009:T1402A	T	-	1	0	PREX1	46684684	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	2.819000	0.48049	0.014000	0.14944	0.459000	0.35465	ACG	PREX1	-	NULL	ENSG00000124126		0.557	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	-	0	42	0	T	NM_020820		47251277	-1	tier1	-	no_errors	ENST00000371941	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.995	C	C	47251277	T	C	47251277	3	2	102	1	0	0	0	0	1	0	0	0	12518	1667	58	4	807	4	PREX1	20	47251277	Missense_Mutation	SNP	T	TCGA-LN-A49O-01A-11D-A247-09	3996082	47251277	15774243	95	28766											
NFATC2	4773	genome.wustl.edu	37	chr20	50140465	50140466	+	Frame_Shift_Ins	INS	-	-	A																															gagggctcaggcccgaggccINScctgctggcttggccgcgct																										TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr20:50140465_50140466insA	ENST00000396009.3	-	2	533_534	c.314_315insT	c.(313-315)gggfs	p.G105fs	NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Frame_Shift_Ins_p.G85fs|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Frame_Shift_Ins_p.G85fs|NFATC2_ENST00000371564.3_Frame_Shift_Ins_p.G105fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	105					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCCCGAGGCCCCTGCTGGCTT	0.678																																																	0																																										SO:0001589	frameshift_variant	0			U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"Nuclear factor of activated T-cells"	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.314_315insT	20.37:g.50140465_50140466insA	ENSP00000379330:p.Gly105fs		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Ins	INS	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.A106fs	ENST00000396009.3	37	c.315_314	CCDS13437.1	20																																																																																			NFATC2	-	NULL	ENSG00000101096		0.678	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFATC2	HGNC	protein_coding	OTTHUMT00000079730.2		0	43	0	-	NM_012340		50140466	-1	tier1		no_errors	ENST00000396009	ensembl	human	known	74_37	frame_shift_ins	25.81	23	8	INS	1.000:1.000	A	A	50140466	-	A	50140465	7	5	102	1	0	1	1	0	0	0	0	0	10401	610	22	0	2546	0	NFATC2	20	50140465	Frame_Shift_Ins	INS	-	TCGA-LN-A49O-01A-11D-A247-09	2889188	50140465	12885055	96	28767											
UCKL1	54963	genome.wustl.edu	37	chr20	62572378	62572378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagaagatgaactcgtcGcgactggtctccttgtccct	8	11	11	11	3	1	3	0	1	1	2	5	5	2	3	2	1	1	1	2	1	3	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr20:62572378G>A	ENST00000354216.6	-	10	1083	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R	UCKL1_ENST00000369908.5_Silent_p.R332R|UCKL1_ENST00000358711.3_Nonsense_Mutation_p.R364*|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000369892.3_Silent_p.R347R|MIR1914_ENST00000607800.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	347					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGAACTCGTCGCGACTGGTCT	0.647																																																	0													49	43	45					20																	62572378		2188	4296	6484	SO:0001819	synonymous_variant	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"uridine kinase-like 1"	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1041C>T	20.37:g.62572378G>A			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Nonsense_Mutation	SNP	pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase	p.R364*	ENST00000354216.6	37	c.1090	CCDS13547.1	20	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579452	0.86645	.	.	ENSG00000198276	ENST00000358711	.	.	.	5.27	-10.5	0.00291	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-32.4509	3.9169	0.09227	0.3852:0.384:0.0931:0.1377	.	.	.	.	X	364	.	ENSP00000351546:R364X	R	-	1	2	UCKL1	62042822	0.000000	0.05858	0.878000	0.34440	0.838000	0.47535	-3.029000	0.00638	-1.313000	0.02303	-0.266000	0.10368	CGA	UCKL1	-	NULL	ENSG00000198276		0.647	UCKL1-001	KNOWN	basic|CCDS	protein_coding	UCKL1	HGNC	protein_coding	OTTHUMT00000080236.1	-	0	40	0	G	NM_017859		62572378	-1	tier1	-	no_errors	ENST00000358711	ensembl	human	known	74_37	nonsense	20.83	19	5	SNP	0.046	A	A	62572378	G	A	62572378	2	1	102	1	0	0	0	0	0	0	0	1	16974	1074	38	1		1	UCKL1	20	62572378	Silent	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	12431913	62572378	453142	97	28768											
GCFC1	94104	genome.wustl.edu	37	chr21	34110493	34110493	+	Frame_Shift_Del	DEL	T	T	-																															atttaactcacattttgggcTtttttgatgctgtcatctcc																										TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr21:34110493delT	ENST00000331923.4	-	16	2661	c.2472delA	c.(2470-2472)aaafs	p.K824fs	PAXBP1-AS1_ENST00000455170.1_RNA|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	824					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTTTGGGCTTTTTTGATGC	0.279																																																	0													82	84	83					21																	34110493		2202	4295	6497	SO:0001589	frameshift_variant	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 105", "GC-rich sequence DNA-binding factor candidate"		"chromosome 21 open reading frame 66", "GC-rich sequence DNA-binding factor 1"	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2472delA	21.37:g.34110493delT	ENSP00000328992:p.Lys824fs		D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Del	DEL	pfam_GCFC_dom	p.A825fs	ENST00000331923.4	37	c.2472	CCDS13619.1	21																																																																																			PAXBP1	-	NULL	ENSG00000159086		0.279	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAXBP1	HGNC	protein_coding	OTTHUMT00000139563.1		0	34	0	T	NM_013329		34110493	-1	tier1		no_errors	ENST00000331923	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	1.000	-	-	34110493	T	-	34110493	7	5	102	1	0	1	0	1	0	0	0	0	6314	1606	56	0	293	0	GCFC1	21	34110493	Frame_Shift_Del	DEL	T	TCGA-LN-A49O-01A-11D-A247-09		34110493	14019402	98	28769											
CECR2	27443	genome.wustl.edu	37	chr22	18003287	18003287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttggaggagaaggtcaaGgcagtggaaggtatgtgcag	12	7	19	3	0	1	1	1	0	0	1	1	5	1	3	0	6	1	4	0	6	4	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr22:18003287G>T	ENST00000400585.2	+	9	1047	c.609G>T	c.(607-609)aaG>aaT	p.K203N	CECR2_ENST00000342247.5_Missense_Mutation_p.K296N|CECR2_ENST00000262608.8_Missense_Mutation_p.K325N|CECR2_ENST00000400573.5_Missense_Mutation_p.K344N			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	366					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAAGGTCAAGGCAGTGGAAG	0.542																																																	0													92	102	99					22																	18003287		2175	4261	6436	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.609G>T	22.37:g.18003287G>T	ENSP00000383428:p.Lys203Asn		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.K344N	ENST00000400585.2	37	c.1032		22	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721866	0.68959	.	.	ENSG00000099954	ENST00000342247;ENST00000400585;ENST00000400573;ENST00000262608	T;T;T;T	0.32988	1.91;1.68;1.69;1.43	5.84	2.02	0.26589	.	0.000000	0.53938	D	0.000057	T	0.46171	0.1379	M	0.62723	1.935	0.41418	D	0.987785	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.994;0.994;0.996;0.994	T	0.36187	-0.9758	10	0.54805	T	0.06	-34.4168	7.0517	0.25077	0.4762:0.0:0.5238:0.0	.	366;203;338;344	Q9BXF3;B7WPH3;Q9BXF3-2;E2QRE6	CECR2_HUMAN;.;.;.	N	296;203;344;325	ENSP00000341219:K296N;ENSP00000383428:K203N;ENSP00000383417:K344N;ENSP00000262608:K325N	ENSP00000262608:K325N	K	+	3	2	CECR2	16383287	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.729000	0.38115	0.627000	0.30340	-0.145000	0.13849	AAG	CECR2	-	NULL	ENSG00000099954		0.542	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	-	0	59	0	G	NM_031413		18003287	1	tier1	-	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	67.86	9	19	SNP	1.000	T	T	18003287	G	T	18003287	3	4	102	1	0	0	0	0	1	0	0	0	3213	991	35	3	1004	3	CECR2	22	18003287	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09		18003287	33301279	99	28770											
MGAT3	4248	genome.wustl.edu	37	chr22	39883900	39883900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggcacggacccagctgcgGcgtgcccactgtggtgcagt	5	7	15	14	3	0	0	0	0	0	0	0	1	0	1	2	4	4	3	2	4	0	0			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr22:39883900G>A	ENST00000341184.6	+	2	763	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	183					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCCAGCTGCGGCGTGCCCACT	0.721																																																	0													16	15	15					22																	39883900		2194	4288	6482	SO:0001583	missense	0			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.548G>A	22.37:g.39883900G>A	ENSP00000345270:p.Gly183Asp		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.G183D	ENST00000341184.6	37	c.548	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883655	0.72410	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.42	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.60235	0.2253	L	0.46741	1.465	0.58432	D	0.999993	P	0.47034	0.889	P	0.49799	0.622	T	0.63567	-0.6608	9	0.59425	D	0.04	.	14.1199	0.65180	0.0726:0.0:0.9274:0.0	.	183	Q09327	MGAT3_HUMAN	D	183	.	ENSP00000345270:G183D	G	+	2	0	MGAT3	38213846	1.000000	0.71417	0.963000	0.40424	0.815000	0.46073	6.141000	0.71744	1.312000	0.45043	-0.251000	0.11542	GGC	MGAT3	-	pfam_Glyco_trans_17	ENSG00000128268		0.721	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	-	0	27	0	G	NM_002409		39883900	1	tier1	-	no_errors	ENST00000341184	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.998	A	A	39883900	G	A	39883900	3	1	102	1	0	0	0	0	1	0	0	0	9582	1203	42	3	550	3	MGAT3	22	39883900	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	21880613	39883900	11420666	100	28771											
ATF4	468	genome.wustl.edu	37	chr22	39917608	39917609	+	Frame_Shift_Ins	INS	-	-	G																															catgggttctccagcgacaaINSggctaaggcgggctcctccg																										TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chr22:39917608_39917609insG	ENST00000337304.2	+	1	1040_1041	c.158_159insG	c.(157-162)aaggctfs	p.A54fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.A54fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.A54fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	54					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TCCAGCGACAAGGCTAAGGCGG	0.579																																																	0																																										SO:0001589	frameshift_variant	0			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"basic leucine zipper proteins"	786	protein-coding gene	gene with protein product	"tax-responsive enhancer element B67"	604064	"activating transcription factor 4 (tax-responsive enhancer element B67)"	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.160dupG	22.37:g.39917610_39917610dupG	ENSP00000336790:p.Ala54fs		Q9UH31	Frame_Shift_Ins	INS	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.A54fs	ENST00000337304.2	37	c.158_159	CCDS13996.1	22																																																																																			ATF4	-	NULL	ENSG00000128272		0.579	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1		0	33	0	-	NM_001675		39917609	1	tier1		no_errors	ENST00000337304	ensembl	human	known	74_37	frame_shift_ins	16.67	20	4	INS	1.000:1.000	G	G	39917609	-	G	39917608	7	5	102	1	0	1	1	0	0	0	0	0	1083	72	3	0	160	0	ATF4	22	39917608	Frame_Shift_Ins	INS	-	TCGA-LN-A49O-01A-11D-A247-09	33708	39917608	11386958	101	28772											
NHSL2	340527	genome.wustl.edu	37	chrX	71359229	71359229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttggaacatcaaggacatCactcgtcccacccagatgct	11	8	7	15	1	2	1	2	0	0	1	4	3	3	3	3	2	2	1	3	2	2	1			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chrX:71359229C>G	ENST00000373677.1	+	2	1995	c.733C>G	c.(733-735)Cac>Gac	p.H245D	NHSL2_ENST00000540800.1_Missense_Mutation_p.H611D|NHSL2_ENST00000510661.1_Missense_Mutation_p.H380D|NHSL2_ENST00000535692.1_Missense_Mutation_p.H245D			Q5HYW2	NHSL2_HUMAN	NHS-like 2	245										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCAAGGACATCACTCGTCCCA	0.527																																																	0													125	92	103					X																	71359229		2203	4300	6503	SO:0001583	missense	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.733C>G	X.37:g.71359229C>G	ENSP00000362781:p.His245Asp		B2RN94	Missense_Mutation	SNP	NULL	p.H611D	ENST00000373677.1	37	c.1831		X	.	.	.	.	.	.	.	.	.	.	C	7.052	0.564605	0.13498	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.42900	1.56;0.98;0.96;0.98	5.68	3.85	0.44370	.	0.760641	0.13027	N	0.419599	T	0.30792	0.0776	L	0.27053	0.805	0.23003	N	0.998446	B;B;B	0.25667	0.034;0.131;0.131	B;B;B	0.22601	0.04;0.04;0.04	T	0.16600	-1.0397	10	0.40728	T	0.16	-0.1107	11.1014	0.48177	0.4872:0.5128:0.0:0.0	.	611;380;245	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	D	611;245;380;245	ENSP00000444617:H611D;ENSP00000362781:H245D;ENSP00000424079:H380D;ENSP00000444914:H245D	ENSP00000362781:H245D	H	+	1	0	NHSL2	71275954	0.000000	0.05858	0.196000	0.23383	0.984000	0.73092	0.345000	0.19979	0.512000	0.28257	0.600000	0.82982	CAC	NHSL2	-	NULL	ENSG00000204131		0.527	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0	18	0	C	NM_001013627		71359229	1	tier1	-	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	85.00	3	17	SNP	0.410	G	G	71359229	C	G	71359229	3	3	102	1	0	0	0	0	1	0	0	0	10451	826	29	5	1853	5	NHSL2	23	71359229	Missense_Mutation	SNP	C	TCGA-LN-A49O-01A-11D-A247-09		71359229	83911331	102	28773											
STAG2	10735	genome.wustl.edu	37	chrX	123210195	123210195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccagatggtcagcaagaGgatgaagccagtaaaattga	15	8	11	7	0	2	4	1	2	1	2	3	5	2	5	2	2	2	2	2	2	4	2			TCGA-LN-A49O-01A-11D-A247-09	TCGA-LN-A49O-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4a309e69-3970-434f-8504-fbd71533c8f7	d8f34a63-8393-4ded-b6ce-58e16e452144	g.chrX:123210195G>T	ENST00000371160.1	+	26	2837	c.2547G>T	c.(2545-2547)gaG>gaT	p.E849D	STAG2_ENST00000218089.9_Missense_Mutation_p.E849D|STAG2_ENST00000371157.3_Missense_Mutation_p.E849D|STAG2_ENST00000371144.3_Missense_Mutation_p.E849D|STAG2_ENST00000371145.3_Missense_Mutation_p.E849D|STAG2_ENST00000354548.5_Missense_Mutation_p.E780D|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	849					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCAGCAAGAGGATGAAGCCA	0.338																																																	0													96	99	98					X																	123210195		2203	4300	6503	SO:0001583	missense	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2547G>T	X.37:g.123210195G>T	ENSP00000360202:p.Glu849Asp		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.E849D	ENST00000371160.1	37	c.2547	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123139	0.20959	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.33865	1.8;1.4;1.39;1.39;1.8;1.39	5.34	0.867	0.19085	.	0.050716	0.85682	D	0.000000	T	0.13415	0.0325	N	0.10664	0.02	0.32363	N	0.556901	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.05146	-1.0903	10	0.34782	T	0.22	-5.3075	0.6887	0.00887	0.2927:0.1107:0.3363:0.2604	.	849;849	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	D	849;780;849;849;849;849	ENSP00000218089:E849D;ENSP00000346555:E780D;ENSP00000360202:E849D;ENSP00000360199:E849D;ENSP00000360187:E849D;ENSP00000360186:E849D	ENSP00000218089:E849D	E	+	3	2	STAG2	123037876	0.646000	0.27295	1.000000	0.80357	0.963000	0.63663	-0.133000	0.10451	0.188000	0.20168	0.544000	0.68410	GAG	STAG2	-	NULL	ENSG00000101972		0.338	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2		0	55	0	G	NM_006603		123210195	1			no_errors	ENST00000218089	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.998	T	T	123210195	G	T	123210195	3	4	102	1	0	0	0	0	1	0	0	0	15290	991	35	3	2641	3	STAG2	23	123210195	Missense_Mutation	SNP	G	TCGA-LN-A49O-01A-11D-A247-09	51850966	123210195	32060365	103	28774											
UBR4	23352	genome.wustl.edu	37	chr1	19422060	19422060	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttagggtccccagcatGacgttcaaggtgttcatttc	8	13	11	9	1	2	1	2	1	0	0	4	1	3	1	2	3	1	4	2	3	2	5	rs2236378	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:19422060G>C	ENST00000375254.3	-	93	13632	c.13605C>G	c.(13603-13605)gtC>gtG	p.V4535V	UBR4_ENST00000375217.2_Silent_p.V4528V|UBR4_ENST00000429347.2_Silent_p.V98V|UBR4_ENST00000375226.2_Silent_p.V4511V|UBR4_ENST00000375267.2_Silent_p.V4535V|UBR4_ENST00000375224.1_Silent_p.V242V|UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Silent_p.V199V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4535					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCCCAGCATGACGTTCAAGG	0.502																																																	0													175	132	147					1																	19422060		2203	4300	6503	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"Ubiquitin protein ligase E3 component n-recognins"	30313	protein-coding gene	gene with protein product		609890	"zinc finger, UBR1 type 1"	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13605C>G	1.37:g.19422060G>C			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.V4535	ENST00000375254.3	37	c.13605	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0	87	0	G	NM_020765		19422060	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	silent	20.41	78	20	SNP	1.000	C	C	19422060	G	C	19422060	2	2	103	1	0	0	0	0	0	0	0	1	16953	1277	45	5		5	UBR4	1	19422060	Silent	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		19422060	229828561	1	28775											
PCSK9	255738	genome.wustl.edu	37	chr1	55512211	55512211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccttgaagttgcccCatgtcgactacatcgaggag	9	9	12	11	2	0	1	0	1	0	0	2	4	0	2	3	2	3	2	3	2	2	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:55512211C>T	ENST00000302118.5	+	3	705	c.415C>T	c.(415-417)Cat>Tat	p.H139Y	PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.H139Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	139					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GAAGTTGCCCCATGTCGACTA	0.582																																					Pancreas(137;1454 1827 5886 22361 42375)												0													96	97	96					1																	55512211		2203	4300	6503	SO:0001583	missense	0			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"hypercholesterolemia, autosomal dominant 3"	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.415C>T	1.37:g.55512211C>T	ENSP00000303208:p.His139Tyr		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.H139Y	ENST00000302118.5	37	c.415	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.301916	0.60195	.	.	ENSG00000169174	ENST00000302118;ENST00000452118	T;T	0.72051	-0.62;-0.62	4.62	4.62	0.57501	Proteinase inhibitor, propeptide (1);Proteinase inhibitor I9, subtilisin propeptide (1);	0.140405	0.47093	D	0.000249	T	0.76399	0.3982	L	0.57536	1.79	0.80722	D	1	P	0.49696	0.927	P	0.52109	0.69	T	0.78760	-0.2078	10	0.51188	T	0.08	-0.2283	17.0464	0.86504	0.0:1.0:0.0:0.0	.	139	Q8NBP7	PCSK9_HUMAN	Y	139	ENSP00000303208:H139Y;ENSP00000401598:H139Y	ENSP00000303208:H139Y	H	+	1	0	PCSK9	55284799	1.000000	0.71417	0.525000	0.27900	0.389000	0.30415	4.672000	0.61597	2.072000	0.62099	0.561000	0.74099	CAT	PCSK9	-	pfam_Inhibitor_I9,superfamily_Prot_inh_propept	ENSG00000169174		0.582	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1	-	0	55	0	C	NM_174936		55512211	1	tier1	-	no_errors	ENST00000302118	ensembl	human	known	74_37	missense	56.92	28	37	SNP	0.998	T	T	55512211	C	T	55512211	3	4	103	1	0	0	0	0	1	0	0	0	11645	594	21	3	425	3	PCSK9	1	55512211	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	36090151	55512211	193738410	2	28776											
SLC16A4	9122	genome.wustl.edu	37	chr1	110921577	110921577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatgctaactgactgaGgagaaaagaccaagtaaata	19	7	10	5	0	0	4	0	2	0	2	0	6	0	4	1	1	2	3	1	1	9	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:110921577G>C	ENST00000369779.4	-	6	1177	c.928C>G	c.(928-930)Ctc>Gtc	p.L310V	SLC16A4_ENST00000541986.1_Missense_Mutation_p.L248V|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.L262V|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L200V|SLC16A4_ENST00000497687.1_5'UTR	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	310					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AACTGACTGAGGAGAAAAGAC	0.408																																																	0													111	106	108					1																	110921577		2203	4300	6503	SO:0001583	missense	0			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"Solute carriers"	10925	protein-coding gene	gene with protein product		603878	"solute carrier family 16 (monocarboxylic acid transporters), member 4", "solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.928C>G	1.37:g.110921577G>C	ENSP00000358794:p.Leu310Val		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L310V	ENST00000369779.4	37	c.928	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	g	20.5	3.999419	0.74818	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986;ENST00000467986	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	5.99	1.28	0.21552	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.315746	0.34362	N	0.004033	T	0.75503	0.3858	M	0.74647	2.275	0.33672	D	0.611053	P;P;B;P	0.50066	0.768;0.931;0.299;0.722	P;P;P;B	0.49799	0.559;0.622;0.559;0.338	T	0.71069	-0.4699	10	0.40728	T	0.16	.	6.6285	0.22843	0.6006:0.0:0.3994:0.0	.	200;248;262;310	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	V	310;262;200;248;77	ENSP00000358794:L310V;ENSP00000432495:L262V;ENSP00000394790:L200V;ENSP00000446087:L248V;ENSP00000435768:L77V	ENSP00000358794:L310V	L	-	1	0	SLC16A4	110723100	1.000000	0.71417	0.966000	0.40874	0.897000	0.52465	4.249000	0.58766	0.347000	0.23924	-0.156000	0.13503	CTC	SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168679		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	-	0	30	0	G	NM_004696		110921577	-1	tier1	-	no_errors	ENST00000369779	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	C	C	110921577	G	C	110921577	3	2	103	1	0	0	0	0	1	0	0	0	14455	1000	35	5	551	5	SLC16A4	1	110921577	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	55409366	110921577	138329044	3	28777											
C1orf56	54964	genome.wustl.edu	37	chr1	151022913	151022913	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttttttttcttacgcaGatagacagaaaccagaggta	13	14	7	7	1	1	4	0	0	1	4	1	4	1	4	1	1	2	2	1	1	5	8			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:151022913G>T	ENST00000368926.5	+	2	1113		c.e2-1		CDC42SE1_ENST00000492796.1_5'Flank|C1orf56_ENST00000465135.1_Splice_Site	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTTACGCAGATAGACAGAA	0.418																																					GBM(146;891 3320 6873)												0													180	187	185					1																	151022913		2203	4300	6503	SO:0001630	splice_region_variant	0			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"methylated in normal thymocytes"					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.1006-1G>T	1.37:g.151022913G>T			B2RDU8|Q9NWZ4	Splice_Site	SNP	-	e2-1	ENST00000368926.5	37	c.1006-1	CCDS980.1	1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513018	0.64522	.	.	ENSG00000143443	ENST00000368926	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2988	0.66331	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C1orf56	149289537	1.000000	0.71417	0.874000	0.34290	0.982000	0.71751	4.235000	0.58666	2.756000	0.94617	0.561000	0.74099	.	C1orf56	-	-	ENSG00000143443		0.418	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1		0	66	0	G	NM_017860	Intron	151022913	1			no_errors	ENST00000368926	ensembl	human	known	74_37	splice_site	5.36	53	3	SNP	0.932	T	T	151022913	G	T	151022913	5	4	103	1	0	0	0	0	0	0	1	0	2055	956	33	3	1011	3	C1orf56	1	151022913	Splice_Site	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	40101336	151022913	98227708	4	28778											
TCHH	7062	genome.wustl.edu	37	chr1	152081839	152081839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtcgcgctgctgccagCgcctcctctcttgctcacga	3	10	10	18	4	2	0	1	0	1	0	5	1	3	0	4	0	4	3	4	0	0	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:152081839C>T	ENST00000368804.1	-	2	3853	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1285					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGCCAGCGCCTCCTCTC	0.567																																																	0													102	105	104					1																	152081839		2000	4152	6152	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"EF-hand domain containing"	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3854G>A	1.37:g.152081839C>T	ENSP00000357794:p.Arg1285His		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1285H	ENST00000368804.1	37	c.3854	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766576	0.31228	.	.	ENSG00000159450	ENST00000368804	T	0.08807	3.05	3.97	-0.388	0.12459	.	.	.	.	.	T	0.01287	0.0042	N	0.24115	0.695	0.09310	N	1	B	0.25351	0.124	B	0.12156	0.007	T	0.47071	-0.9145	9	0.39692	T	0.17	.	2.2739	0.04097	0.1521:0.5138:0.1483:0.1859	.	1285	Q07283	TRHY_HUMAN	H	1285	ENSP00000357794:R1285H	ENSP00000357794:R1285H	R	-	2	0	TCHH	150348463	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-0.176000	0.09811	-0.102000	0.12197	-0.309000	0.09137	CGC	TCHH	-	NULL	ENSG00000159450		0.567	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0	38	0	C	NM_007113		152081839	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	24.53	40	13	SNP	0.000	T	T	152081839	C	T	152081839	3	4	103	1	0	0	0	0	1	0	0	0	15747	768	27	1	1981	1	TCHH	1	152081839	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	1058926	152081839	97168782	5	28779											
HRNR	388697	genome.wustl.edu	37	chr1	152188847	152188847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcatgttgaccaaagAcagaagagtgacccgagcga	15	5	11	10	2	1	6	1	2	0	4	1	8	1	6	2	0	1	1	2	0	2	1	rs145667921		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:152188847A>G	ENST00000368801.2	-	3	5333	c.5258T>C	c.(5257-5259)gTc>gCc	p.V1753A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1753					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCAAAGACAGAAGAGTG	0.562																																																	0													1	1	1					1																	152188847		388	960	1348	SO:0001583	missense	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5258T>C	1.37:g.152188847A>G	ENSP00000357791:p.Val1753Ala		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.V1753A	ENST00000368801.2	37	c.5258	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191978	0.38707	.	.	ENSG00000197915	ENST00000368801	T	0.01548	4.78	3.15	2.19	0.27852	.	.	.	.	.	T	0.00412	0.0013	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48103	-0.9064	9	0.07482	T	0.82	.	1.9459	0.03356	0.2121:0.4632:0.2061:0.1186	.	1753	Q86YZ3	HORN_HUMAN	A	1753	ENSP00000357791:V1753A	ENSP00000357791:V1753A	V	-	2	0	HRNR	150455471	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.214000	0.09292	0.170000	0.19704	-0.294000	0.09567	GTC	HRNR	-	NULL	ENSG00000197915		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	35	0	A	XM_373868		152188847	-1	tier1	rs145667921	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.002	G	G	152188847	A	G	152188847	3	3	103	1	0	0	0	0	1	0	0	0	7386	275	10	4	3298	4	HRNR	1	152188847	Missense_Mutation	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	107008	152188847	97061774	6	28780											
KIRREL	55243	genome.wustl.edu	37	chr1	158064444	158064444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcccccaggaccccaccaAtggctactacaacgtgcgtg	9	7	9	16	2	0	0	0	0	0	0	0	1	0	1	5	2	5	1	5	2	4	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:158064444A>G	ENST00000359209.6	+	15	1875	c.1808A>G	c.(1807-1809)aAt>aGt	p.N603S	KIRREL_ENST00000416935.2_Missense_Mutation_p.N503S|KIRREL_ENST00000368173.3_Missense_Mutation_p.N619S|KIRREL_ENST00000368172.1_Missense_Mutation_p.N417S|KIRREL_ENST00000360089.4_Missense_Mutation_p.N439S|KIRREL_ENST00000392272.2_Missense_Mutation_p.N500S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	603				DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1). {ECO:0000305}.	excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GACCCCACCAATGGCTACTAC	0.622																																																	0													58	62	61					1																	158064444		2201	4297	6498	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15734	protein-coding gene	gene with protein product	"nephrin-like protein 1"	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1808A>G	1.37:g.158064444A>G	ENSP00000352138:p.Asn603Ser		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N619S	ENST00000359209.6	37	c.1856	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130409	0.56828	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	4.91	3.79	0.43588	.	0.000000	0.45867	D	0.000321	T	0.55016	0.1894	L	0.57536	1.79	0.50632	D	0.99988	D;P;D;P	0.89917	1.0;0.952;0.993;0.914	D;B;D;B	0.83275	0.996;0.339;0.978;0.197	T	0.57831	-0.7743	10	0.49607	T	0.09	-23.3608	8.0542	0.30596	0.9031:0.0:0.0969:0.0	.	503;439;417;603	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	S	439;619;500;603;503;417	ENSP00000353202:N439S;ENSP00000357155:N619S;ENSP00000376098:N500S;ENSP00000352138:N603S;ENSP00000389674:N503S;ENSP00000357154:N417S	ENSP00000352138:N603S	N	+	2	0	KIRREL	156331068	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.121000	0.77160	1.829000	0.53265	0.379000	0.24179	AAT	KIRREL	-	NULL	ENSG00000183853		0.622	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0	72	0	A	NM_018240		158064444	1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	missense	22.37	59	17	SNP	0.999	G	G	158064444	A	G	158064444	3	3	103	1	0	0	0	0	1	0	0	0	8351	101	4	4	1866	4	KIRREL	1	158064444	Missense_Mutation	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	5875597	158064444	91186177	7	28781											
SELE	6401	genome.wustl.edu	37	chr1	169696946	169696946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagttgagttgatccatGtaattcaaatccctcctcac	11	13	5	12	0	3	2	3	2	0	0	6	2	6	2	3	0	0	3	3	0	3	4	rs5368	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:169696946G>T	ENST00000333360.7	-	9	1541	c.1402C>A	c.(1402-1404)Cat>Aat	p.H468N	SELE_ENST00000367776.1_Missense_Mutation_p.H405N|SELE_ENST00000367775.1_Missense_Mutation_p.H343N|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.H343N|SELE_ENST00000367774.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.H405N	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	468	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.		H -> Y (in dbSNP:rs5368). {ECO:0000269|PubMed:10391210, ECO:0000269|Ref.4}.		actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.H468Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GTTGATCCATGTAATTCAAAT	0.488																																																	1	Substitution - Missense(1)	stomach(1)	GRCh37	CM025889	SELE	M	rs5368						130	124	126					1																	169696946		2203	4300	6503	SO:0001583	missense	0			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1402C>A	1.37:g.169696946G>T	ENSP00000331736:p.His468Asn		A2RRD6|P16111	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.H468N	ENST00000333360.7	37	c.1402	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	6.551	0.469987	0.12461	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.564738	0.14950	N	0.288970	T	0.21186	0.0510	N	0.03304	-0.355	0.19300	N	0.99998	P	0.40731	0.728	B	0.39706	0.307	T	0.05037	-1.0910	10	0.14252	T	0.57	-2.4227	13.4055	0.60911	0.0:0.2572:0.7428:0.0	.	468	P16581	LYAM2_HUMAN	N	405;343;468;343;405	ENSP00000356755:H405N;ENSP00000356754:H343N;ENSP00000331736:H468N;ENSP00000356749:H343N;ENSP00000356750:H405N	ENSP00000331736:H468N	H	-	1	0	SELE	167963570	0.000000	0.05858	0.006000	0.13384	0.914000	0.54420	0.684000	0.25364	2.675000	0.91044	0.650000	0.86243	CAT	SELE	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000007908		0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1		0	26	0	G	NM_000450		169696946	-1			no_errors	ENST00000333360	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.002	T	T	169696946	G	T	169696946	3	4	103	1	0	0	0	0	1	0	0	0	14058	1377	48	3	450	3	SELE	1	169696946	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	11632502	169696946	79553675	8	28782											
TOR1AIP2	163590	genome.wustl.edu	37	chr1	179815756	179815756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggctggctcagtggggttgGaagcattgaggtgcttctgg	5	12	18	6	0	2	1	1	1	1	0	2	2	2	2	0	7	2	5	0	7	1	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:179815756G>A	ENST00000367612.3	-	6	1250	c.863C>T	c.(862-864)tCc>tTc	p.S288F	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S288F	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGTGGGGTTGGAAGCATTGAG	0.517																																																	0													88	82	84					1																	179815756		2203	4300	6503	SO:0001583	missense	0				CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.863C>T	1.37:g.179815756G>A	ENSP00000356584:p.Ser288Phe		Q05BU2	Missense_Mutation	SNP	pfam_Lamina-ass_polypeptide_CLAP1C	p.S288F	ENST00000367612.3	37	c.863	CCDS1334.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989398	0.74589	.	.	ENSG00000169905	ENST00000367612	T	0.35605	1.3	5.63	5.63	0.86233	.	0.371554	0.24490	N	0.038066	T	0.65281	0.2676	M	0.80847	2.515	0.33977	D	0.647501	D	0.89917	1.0	D	0.87578	0.998	T	0.75314	-0.3361	10	0.87932	D	0	-10.2363	19.3046	0.94155	0.0:0.0:1.0:0.0	.	288	Q8NFQ8	TOIP2_HUMAN	F	288	ENSP00000356584:S288F	ENSP00000356584:S288F	S	-	2	0	TOR1AIP2	178082379	0.933000	0.31639	0.127000	0.21898	0.966000	0.64601	4.068000	0.57534	2.652000	0.90054	0.655000	0.94253	TCC	TOR1AIP2	-	pfam_Lamina-ass_polypeptide_CLAP1C	ENSG00000169905		0.517	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1AIP2	HGNC	protein_coding	OTTHUMT00000085304.1	-	0	71	0	G	NM_145034		179815756	-1	tier1	-	no_errors	ENST00000367612	ensembl	human	known	74_37	missense	19.10	72	17	SNP	0.682	A	A	179815756	G	A	179815756	3	1	103	1	0	0	0	0	1	0	0	0	16421	1174	41	3	553	3	TOR1AIP2	1	179815756	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	10118810	179815756	69434865	9	28783											
CNTN2	6900	genome.wustl.edu	37	chr1	205034965	205034965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgcccagctgcgccatGgggggaagtacacgtgcatg	9	6	15	11	3	0	1	0	1	0	0	0	2	0	2	2	3	5	3	2	3	3	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:205034965G>T	ENST00000331830.4	+	14	2028	c.1744G>T	c.(1744-1746)Ggg>Tgg	p.G582W		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	582	Ig-like C2-type 6.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTGCGCCATGGGGGGAAGTA	0.642																																					Melanoma(183;2548 2817 37099 41192)												0													91	80	84					1																	205034965		2203	4300	6503	SO:0001583	missense	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1744G>T	1.37:g.205034965G>T	ENSP00000330633:p.Gly582Trp		P78432|Q5T054	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G582W	ENST00000331830.4	37	c.1744	CCDS1449.1	1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297220	0.81025	.	.	ENSG00000184144	ENST00000331830	T	0.28069	1.63	5.75	5.75	0.90469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.294246	0.23876	N	0.043696	T	0.49830	0.1580	L	0.60455	1.87	0.39728	D	0.971575	D;D	0.67145	0.996;0.996	P;P	0.61874	0.895;0.895	T	0.51036	-0.8756	10	0.87932	D	0	.	15.4368	0.75152	0.0:0.0:0.8605:0.1395	.	582;473	Q02246;Q68DA2	CNTN2_HUMAN;.	W	582	ENSP00000330633:G582W	ENSP00000330633:G582W	G	+	1	0	CNTN2	203301588	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.024000	0.57218	2.718000	0.92993	0.591000	0.81541	GGG	CNTN2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000184144		0.642	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3		0	55	0	G	NM_005076		205034965	1			no_errors	ENST00000331830	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.985	T	T	205034965	G	T	205034965	3	4	103	1	0	0	0	0	1	0	0	0	3648	1348	47	3	1794	3	CNTN2	1	205034965	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	25219209	205034965	44215656	10	28784											
CENPF	1063	genome.wustl.edu	37	chr1	214794199	214794199	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactccaagtcgatcaactTtgcaaatagggaaaagagat	16	9	9	7	1	1	2	1	1	0	1	3	5	2	3	1	1	2	1	1	1	6	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:214794199T>G	ENST00000366955.3	+	6	943	c.775T>G	c.(775-777)Ttg>Gtg	p.L259V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCGATCAACTTTGCAAATAGG	0.373																																					Colon(80;575 1284 11000 14801 43496)												0													73	81	78					1																	214794199		2203	4299	6502	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.775T>G	1.37:g.214794199T>G	ENSP00000355922:p.Leu259Val		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.L259V	ENST00000366955.3	37	c.775	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	T	5.925	0.354652	0.11239	.	.	ENSG00000117724	ENST00000366955	T	0.21734	1.99	5.47	-3.94	0.04130	Centromere protein Cenp-F, N-terminal (1);	1.271930	0.06026	N	0.652232	T	0.11281	0.0275	.	.	.	0.09310	N	1	B	0.27416	0.178	B	0.33254	0.16	T	0.32955	-0.9887	9	0.23302	T	0.38	.	1.6931	0.02856	0.2013:0.2455:0.3659:0.1873	.	259	P49454	CENPF_HUMAN	V	259	ENSP00000355922:L259V	ENSP00000355922:L259V	L	+	1	2	CENPF	212860822	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-0.785000	0.04628	-0.912000	0.03837	0.491000	0.48974	TTG	CENPF	-	pfam_Centromere_CenpF_N	ENSG00000117724		0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	-	0	25	0	T	NM_016343		214794199	1	tier1	-	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	26.32	28	10	SNP	0.000	G	G	214794199	T	G	214794199	3	3	103	1	0	0	0	0	1	0	0	0	3238	1838	64	4	793	4	CENPF	1	214794199	Missense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	9759234	214794199	34456422	11	28785											
WNT9A	7483	genome.wustl.edu	37	chr1	228111888	228111888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacacgggctcgcagatccTtgcttgaccgtctgcccagg	6	8	11	16	3	1	2	0	1	1	1	3	2	2	2	4	2	2	3	4	2	0	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr1:228111888T>C	ENST00000272164.5	-	3	576	c.566A>G	c.(565-567)aAg>aGg	p.K189R		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	189					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TCGCAGATCCTTGCTTGACCG	0.612																																																	0													97	91	93					1																	228111888		2203	4300	6503	SO:0001583	missense	0			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"Wingless-type MMTV integration sites"	12778	protein-coding gene	gene with protein product		602863	"wingless-type MMTV integration site family, member 14"	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.566A>G	1.37:g.228111888T>C	ENSP00000272164:p.Lys189Arg		A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a	p.K189R	ENST00000272164.5	37	c.566	CCDS31045.1	1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706108	0.30232	.	.	ENSG00000143816	ENST00000272164	T	0.75589	-0.95	4.78	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	N	0.17674	0.51	0.49582	D	0.999808	B	0.06786	0.001	B	0.15484	0.013	T	0.36915	-0.9728	10	0.05721	T	0.95	.	5.8182	0.18512	0.0:0.0856:0.1704:0.744	.	189	O14904	WNT9A_HUMAN	R	189	ENSP00000272164:K189R	ENSP00000272164:K189R	K	-	2	0	WNT9A	226178511	1.000000	0.71417	0.983000	0.44433	0.764000	0.43329	6.177000	0.71961	0.661000	0.30985	0.402000	0.26972	AAG	WNT9A	-	pfam_Wnt,smart_Wnt	ENSG00000143816		0.612	WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9A	HGNC	protein_coding	OTTHUMT00000091646.1	-	0	78	0	T	NM_003395		228111888	-1	tier1	-	no_errors	ENST00000272164	ensembl	human	known	74_37	missense	24.07	82	26	SNP	1.000	C	C	228111888	T	C	228111888	3	2	103	1	0	0	0	0	1	0	0	0	17447	1609	56	4	539	4	WNT9A	1	228111888	Missense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	13317689	228111888	21138733	12	28786											
CAD	790	genome.wustl.edu	37	chr2	27445849	27445849	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccgacctgtctttgggatCtgcctgggacaccagctatt	6	11	10	14	1	2	0	0	0	2	0	2	3	2	2	5	2	2	1	5	2	1	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:27445849C>G	ENST00000403525.1	+	6	897	c.753C>G	c.(751-753)atC>atG	p.I251M	CAD_ENST00000264705.4_Missense_Mutation_p.I251M			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTGGGATCTGCCTGGGAC	0.542																																																	0													93	81	85					2																	27445849		2203	4300	6503	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.753C>G	2.37:g.27445849C>G	ENSP00000384510:p.Ile251Met		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.I251M	ENST00000403525.1	37	c.753		2	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641092	0.67244	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.95205	-3.64;-3.64	5.04	5.04	0.67666	Carbamoyl-phosphate synthase, GATase domain (1);Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	H	0.99951	5.03	0.51767	D	0.999935	D;D	0.89917	1.0;0.977	D;P	0.78314	0.991;0.9	D	0.98871	1.0766	10	0.87932	D	0	8.8847	16.2249	0.82285	0.0:1.0:0.0:0.0	.	251;251	F8VPD4;P27708	.;PYR1_HUMAN	M	251	ENSP00000264705:I251M;ENSP00000384510:I251M	ENSP00000264705:I251M	I	+	3	3	CAD	27299353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.156000	0.31712	2.501000	0.84356	0.491000	0.48974	ATC	CAD	-	pfam_GATASE,tigrfam_CarbamoylP_synth_ssu	ENSG00000084774		0.542	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	-	0	87	0	C			27445849	1	tier1	-	no_errors	ENST00000264705	ensembl	human	known	74_37	missense	23.47	75	23	SNP	1.000	G	G	27445849	C	G	27445849	3	3	103	1	0	0	0	0	1	0	0	0	2572	903	32	5	775	5	CAD	2	27445849	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09		27445849	215753524	13	28787											
LRPPRC	10128	genome.wustl.edu	37	chr2	44128499	44128499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgttattgatgaaaaccaTttttgaaagtccaatggagt	15	14	8	4	0	0	3	0	3	0	0	1	4	1	4	2	1	1	1	2	1	6	4	rs564191181		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:44128499T>C	ENST00000260665.7	-	32	3586	c.3529A>G	c.(3529-3531)Atg>Gtg	p.M1177V		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1177	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATGAAAACCATTTTTGAAAGT	0.398																																																	0													123	119	121					2																	44128499		2203	4300	6503	SO:0001583	missense	0			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3529A>G	2.37:g.44128499T>C	ENSP00000260665:p.Met1177Val		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.M1177V	ENST00000260665.7	37	c.3529	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	T	13.23	2.174624	0.38413	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.11821	2.74	6.17	6.17	0.99709	.	0.084727	0.85682	D	0.000000	T	0.27349	0.0671	M	0.77616	2.38	0.80722	D	1	D;P	0.61080	0.989;0.951	P;P	0.53954	0.738;0.525	T	0.11372	-1.0590	10	0.13108	T	0.6	-12.1814	12.4599	0.55727	0.1321:0.0:0.0:0.8679	.	1077;1177	F5H4J6;P42704	.;LPPRC_HUMAN	V	1077;1177	ENSP00000260665:M1177V	ENSP00000260665:M1177V	M	-	1	0	LRPPRC	43982003	0.999000	0.42202	0.940000	0.37924	0.262000	0.26303	3.611000	0.54132	2.371000	0.80710	0.533000	0.62120	ATG	LRPPRC	-	NULL	ENSG00000138095		0.398	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	-	0	61	0	T	NM_133259		44128499	-1	tier1	-	no_errors	ENST00000260665	ensembl	human	known	74_37	missense	20.00	72	18	SNP	0.969	C	C	44128499	T	C	44128499	3	2	103	1	0	0	0	0	1	0	0	0	9000	1493	52	4	683	4	LRPPRC	2	44128499	Missense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	16682650	44128499	199070874	14	28788											
RANBP2	5903	genome.wustl.edu	37	chr2	109381161	109381161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagctcgttggcccacCattagctgaaactgttttta	11	13	8	9	1	0	2	0	1	0	1	1	2	0	2	2	1	3	4	2	1	5	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:109381161C>T	ENST00000283195.6	+	20	4292	c.4166C>T	c.(4165-4167)cCa>cTa	p.P1389L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1389					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTGGCCCACCATTAGCTGAA	0.408																																																	0													96	97	96					2																	109381161		2203	4300	6503	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"Tetratricopeptide (TTC) repeat domain containing"	9848	protein-coding gene	gene with protein product		601181	"acute necrotizing encephalopathy 1 (autosomal dominant)"	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4166C>T	2.37:g.109381161C>T	ENSP00000283195:p.Pro1389Leu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.P1389L	ENST00000283195.6	37	c.4166	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099314	0.37048	.	.	ENSG00000153201	ENST00000283195	T	0.35789	1.29	5.48	4.6	0.57074	.	.	.	.	.	T	0.28067	0.0692	L	0.29908	0.895	0.41204	D	0.986396	P	0.50272	0.933	B	0.39419	0.299	T	0.12400	-1.0549	9	0.87932	D	0	-3.3943	14.446	0.67349	0.1484:0.8516:0.0:0.0	.	1389	P49792	RBP2_HUMAN	L	1389	ENSP00000283195:P1389L	ENSP00000283195:P1389L	P	+	2	0	RANBP2	108747593	0.434000	0.25570	0.988000	0.46212	0.133000	0.20885	2.782000	0.47758	1.286000	0.44565	-0.169000	0.13324	CCA	RANBP2	-	NULL	ENSG00000153201		0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1		0	29	0	C	NM_006267		109381161	1			no_errors	ENST00000283195	ensembl	human	known	74_37	missense	8.57	32	3	SNP	0.992	T	T	109381161	C	T	109381161	3	4	103	1	0	0	0	0	1	0	0	0	13073	594	21	3	4244	3	RANBP2	2	109381161	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	65252662	109381161	133818212	15	28789											
FIGN	55137	genome.wustl.edu	37	chr2	164466292	164466292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagaaaagccttctgtgcGctggacgagcagtgcaaact	11	8	11	11	2	1	1	0	0	1	1	2	3	2	2	2	1	5	3	2	1	3	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:164466292G>A	ENST00000333129.3	-	3	2364	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	684					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCTTCTGTGCGCTGGACGAGC	0.522																																																	0													63	64	64					2																	164466292		2063	4221	6284	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"ATPases / AAA-type"	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2050C>T	2.37:g.164466292G>A	ENSP00000333836:p.Arg684Cys		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R684C	ENST00000333129.3	37	c.2050	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608239	0.46527	.	.	ENSG00000182263	ENST00000333129	D	0.99014	-5.33	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	M	0.87038	2.855	0.80722	D	1	D	0.63046	0.992	D	0.70935	0.971	D	0.99180	1.0867	10	0.59425	D	0.04	-21.4899	20.2723	0.98479	0.0:0.0:1.0:0.0	.	684	Q5HY92	FIGN_HUMAN	C	684	ENSP00000333836:R684C	ENSP00000333836:R684C	R	-	1	0	FIGN	164174538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.654000	0.83653	2.793000	0.96121	0.563000	0.77884	CGC	FIGN	-	superfamily_P-loop_NTPase	ENSG00000182263		0.522	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	-	0	52	0	G	NM_018086		164466292	-1	tier1	-	no_errors	ENST00000333129	ensembl	human	known	74_37	missense	36.90	53	31	SNP	1.000	A	A	164466292	G	A	164466292	3	1	103	1	0	0	0	0	1	0	0	0	5913	1087	38	1	233	1	FIGN	2	164466292	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	55085131	164466292	78733081	16	28790											
XIRP2	129446	genome.wustl.edu	37	chr2	168115690	168115690	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttaagggaatttggaaaGgatgttaaaccttggcatgt	13	13	12	3	0	0	0	0	0	0	0	0	4	0	3	1	4	1	2	1	4	5	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:168115690G>C	ENST00000409728.1	+	11	2822	c.2733G>C	c.(2731-2733)aaG>aaC	p.K911N	XIRP2_ENST00000409605.1_Missense_Mutation_p.K656N|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.K878N|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.K911N|XIRP2_ENST00000409043.1_Missense_Mutation_p.K878N|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTTGGAAAGGATGTTAAAC	0.348																																																	0													85	77	80					2																	168115690		1850	4095	5945	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2733G>C	2.37:g.168115690G>C	ENSP00000386619:p.Lys911Asn		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.K911N	ENST00000409728.1	37	c.2733	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655538	0.47467	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.80909	-1.4;-1.4;-1.4;-1.4;-1.43	5.78	-2.76	0.05896	.	.	.	.	.	T	0.54127	0.1839	.	.	.	0.09310	N	0.999999	B;B	0.17268	0.021;0.021	B;B	0.16722	0.016;0.016	T	0.45527	-0.9255	8	0.07030	T	0.85	.	5.1881	0.15195	0.3808:0.0:0.3234:0.2959	.	878;911	A4UGR9-4;A4UGR9-6	.;.	N	878;911;878;911;656	ENSP00000386454:K878N;ENSP00000386619:K911N;ENSP00000386724:K878N;ENSP00000415541:K911N;ENSP00000386981:K656N	ENSP00000386454:K878N	K	+	3	2	XIRP2	167823936	0.066000	0.20996	0.056000	0.19401	0.356000	0.29392	0.006000	0.13152	-0.319000	0.08652	-0.226000	0.12346	AAG	XIRP2	-	NULL	ENSG00000163092		0.348	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	-	0	83	0	G	NM_152381		168115690	1	tier1	-	no_errors	ENST00000420519	ensembl	human	known	74_37	missense	16.98	88	18	SNP	0.002	C	C	168115690	G	C	168115690	3	2	103	1	0	0	0	0	1	0	0	0	17479	991	35	5	12051	5	XIRP2	2	168115690	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	3649398	168115690	75083683	17	28791											
ITGA6	3655	genome.wustl.edu	37	chr2	173335707	173335707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcattcctttagggattGttcgtgtagagcaaaagaat	12	15	9	5	1	1	2	1	0	0	2	3	3	2	3	1	1	1	3	1	1	5	7			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:173335707G>T	ENST00000264106.6	+	5	852	c.649G>T	c.(649-651)Gtt>Ttt	p.V217F	ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000409080.1_Missense_Mutation_p.V217F|ITGA6_ENST00000375221.2_Missense_Mutation_p.V217F|ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000264107.7_Missense_Mutation_p.V217F			P23229	ITA6_HUMAN	integrin, alpha 6	217					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTAGGGATTGTTCGTGTAGA	0.348																																																	0													78	71	73					2																	173335707		2203	4300	6503	SO:0001583	missense	0				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"CD molecules", "Integrins"	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.649G>T	2.37:g.173335707G>T	ENSP00000264106:p.Val217Phe		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V217F	ENST00000264106.6	37	c.649		2	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758366	0.89843	.	.	ENSG00000091409	ENST00000412899;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000409080;ENST00000442250	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.83202	0.5203	L	0.60455	1.87	0.80722	D	1	P;P	0.52316	0.952;0.8	P;P	0.58873	0.847;0.718	D	0.84025	0.0356	10	0.72032	D	0.01	.	19.7126	0.96102	0.0:0.0:1.0:0.0	.	217;217	G5E9H1;P23229-2	.;.	F	103;217;217;217;217;217	ENSP00000413470:V103F;ENSP00000264107:V217F;ENSP00000264106:V217F;ENSP00000364369:V217F;ENSP00000386896:V217F;ENSP00000406694:V217F	ENSP00000264106:V217F	V	+	1	0	ITGA6	173043953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.664000	0.90586	0.650000	0.86243	GTT	ITGA6	-	NULL	ENSG00000091409		0.348	ITGA6-201	KNOWN	basic	protein_coding	ITGA6	HGNC	protein_coding			0	29	0	G			173335707	1			no_errors	ENST00000264106	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	173335707	G	T	173335707	3	4	103	1	0	0	0	0	1	0	0	0	7907	1377	48	3	667	3	ITGA6	2	173335707	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	5220017	173335707	69863666	18	28792											
DNAH7	56171	genome.wustl.edu	37	chr2	196729159	196729159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgacatcttccagaaaaGactcttctttaatttgagta	13	15	5	8	0	3	4	0	2	3	2	4	4	4	4	1	0	1	1	1	0	5	7			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:196729159G>C	ENST00000312428.6	-	41	7320	c.7220C>G	c.(7219-7221)tCt>tGt	p.S2407C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2407	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCCAGAAAAGACTCTTCTTT	0.383																																																	0													92	88	89					2																	196729159		1880	4105	5985	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"Axonemal dyneins", "EF-hand domain containing"	18661	protein-coding gene	gene with protein product		610061	"dynein, axonemal, heavy polypeptide 7"			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7220C>G	2.37:g.196729159G>C	ENSP00000311273:p.Ser2407Cys		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.S2407C	ENST00000312428.6	37	c.7220	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774036	0.49786	.	.	ENSG00000118997	ENST00000312428	T	0.43294	0.95	5.2	5.2	0.72013	Dynein heavy chain, P-loop containing D4 domain (1);	0.073118	0.56097	D	0.000023	T	0.71358	0.3330	M	0.90922	3.16	0.80722	D	1	D	0.53312	0.959	D	0.63793	0.918	T	0.77781	-0.2459	10	0.66056	D	0.02	.	18.5081	0.90905	0.0:0.0:1.0:0.0	.	2407	Q8WXX0	DYH7_HUMAN	C	2407	ENSP00000311273:S2407C	ENSP00000311273:S2407C	S	-	2	0	DNAH7	196437404	1.000000	0.71417	0.946000	0.38457	0.502000	0.33828	6.357000	0.73051	2.704000	0.92352	0.650000	0.86243	TCT	DNAH7	-	superfamily_P-loop_NTPase	ENSG00000118997		0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0	36	0	G	NM_018897		196729159	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	26.32	42	15	SNP	1.000	C	C	196729159	G	C	196729159	3	2	103	1	0	0	0	0	1	0	0	0	4620	942	33	5	4954	5	DNAH7	2	196729159	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	23393452	196729159	46470214	19	28793											
PIKFYVE	200576	genome.wustl.edu	37	chr2	209198070	209198070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgttgctctttccaatgagtCctggtctatgtcatttgcaa	7	17	8	9	0	3	1	1	1	2	0	5	1	5	1	2	1	2	3	2	1	3	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:209198070C>T	ENST00000264380.4	+	24	4153	c.3995C>T	c.(3994-3996)tCc>tTc	p.S1332F		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1332					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCCAATGAGTCCTGGTCTATG	0.393																																																	0													145	135	139					2																	209198070		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"Zinc fingers, FYVE domain containing"	23785	protein-coding gene	gene with protein product	"zinc finger, FYVE domain containing 29"	609414	"phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3995C>T	2.37:g.209198070C>T	ENSP00000264380:p.Ser1332Phe		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.S1332F	ENST00000264380.4	37	c.3995	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657879	0.88154	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.42131	0.98;0.98	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.78314	0.991;0.982	T	0.66064	-0.6016	10	0.87932	D	0	-10.5754	18.5277	0.90978	0.0:1.0:0.0:0.0	.	1332;1276	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	F	1332;908;1276	ENSP00000264380:S1332F;ENSP00000405736:S1276F	ENSP00000264380:S1332F	S	+	2	0	PIKFYVE	208906315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.387000	0.81309	0.555000	0.69702	TCC	PIKFYVE	-	NULL	ENSG00000115020		0.393	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	-	0	63	0	C	NM_015040		209198070	1	tier1	-	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	17.65	70	15	SNP	1.000	T	T	209198070	C	T	209198070	3	4	103	1	0	0	0	0	1	0	0	0	11963	855	30	3	4096	3	PIKFYVE	2	209198070	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	12468911	209198070	34001303	20	28794											
PID1	55022	genome.wustl.edu	37	chr2	229890645	229890645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatgtgcactgtggcctcCcctttgtggtcgagatgatg	5	13	12	11	1	0	2	0	1	0	1	3	3	2	2	4	2	1	1	4	2	0	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:229890645C>T	ENST00000354069.6	-	3	486	c.456G>A	c.(454-456)ggG>ggA	p.G152G	PID1_ENST00000409462.1_Silent_p.G70G|PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Silent_p.G150G|PID1_ENST00000392055.3_Silent_p.G119G			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	152	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTGTGGCCTCCCCTTTGTGGT	0.597																																																	0													116	111	113					2																	229890645		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.456G>A	2.37:g.229890645C>T			B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.G152	ENST00000354069.6	37	c.456		2																																																																																			PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.597	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0	109	0	C	NM_017933		229890645	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	silent	14.19	133	22	SNP	0.073	T	T	229890645	C	T	229890645	2	4	103	1	0	0	0	0	0	0	0	1	11921	610	22	3		3	PID1	2	229890645	Silent	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	20692575	229890645	13308728	21	28795											
GAL3ST2	64090	genome.wustl.edu	37	chr2	242742979	242742979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgtggttcgacttcggcTtcgaccccaacgcgcagtgc	7	9	11	14	5	0	0	0	0	0	0	3	2	0	0	2	2	2	3	2	2	1	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr2:242742979T>A	ENST00000192314.6	+	4	726	c.595T>A	c.(595-597)Ttc>Atc	p.F199I	AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2	199					biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGACTTCGGCTTCGACCCCAA	0.667																																																	0													42	34	37					2																	242742979		2202	4295	6497	SO:0001583	missense	0			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"Sulfotransferases, membrane-bound"	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.595T>A	2.37:g.242742979T>A	ENSP00000192314:p.Phe199Ile		Q17RK0|Q57Z52	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.F199I	ENST00000192314.6	37	c.595	CCDS33427.1	2	.	.	.	.	.	.	.	.	.	.	T	19.62	3.860978	0.71949	.	.	ENSG00000154252	ENST00000192314	T	0.14893	2.47	4.12	1.71	0.24356	.	0.222920	0.31461	N	0.007605	T	0.25606	0.0623	M	0.64676	1.99	0.18873	N	0.999982	P	0.52170	0.951	P	0.56563	0.801	T	0.07366	-1.0776	10	0.54805	T	0.06	-22.6402	4.1498	0.10232	0.153:0.1527:0.0:0.6942	.	199	Q9H3Q3	G3ST2_HUMAN	I	199	ENSP00000192314:F199I	ENSP00000192314:F199I	F	+	1	0	GAL3ST2	242391652	0.619000	0.27059	0.788000	0.31933	0.842000	0.47809	0.232000	0.17891	0.134000	0.18681	0.379000	0.24179	TTC	GAL3ST2	-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	ENSG00000154252		0.667	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST2	HGNC	protein_coding	OTTHUMT00000322792.1	-	0	45	0	T	NM_022134		242742979	1	tier1	-	no_errors	ENST00000192314	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.041	A	A	242742979	T	A	242742979	3	1	103	1	0	0	0	0	1	0	0	0	6223	1609	56	5	609	5	GAL3ST2	2	242742979	Missense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	12852334	242742979	456394	22	28796											
TGFBR2	7048	genome.wustl.edu	37	chr3	30715678	30715678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagtccttcaagcagaccGatgtctactccatggctctg	8	12	9	12	1	3	2	1	1	2	1	5	3	5	2	3	1	2	2	3	1	2	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:30715678G>A	ENST00000295754.5	+	5	1718	c.1336G>A	c.(1336-1338)Gat>Aat	p.D446N	TGFBR2_ENST00000359013.4_Missense_Mutation_p.D471N	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in LDS2). {ECO:0000269|PubMed:16251899}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.D446N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CAAGCAGACCGATGTCTACTC	0.473																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	GRCh37	CM060085|CM086981	TGFBR2	M							158	136	143					3																	30715678		2203	4300	6503	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"transforming growth factor, beta receptor II (70-80kD)"	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1336G>A	3.37:g.30715678G>A	ENSP00000295754:p.Asp446Asn		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.D471N	ENST00000295754.5	37	c.1411	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.893827	0.97074	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.99394	-5.82;-5.82	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97577	1.0108	10	0.87932	D	0	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	446;471	P37173;D2JYI1	TGFR2_HUMAN;.	N	446;471;276	ENSP00000295754:D446N;ENSP00000351905:D471N	ENSP00000295754:D446N	D	+	1	0	TGFBR2	30690682	1.000000	0.71417	0.970000	0.41538	0.993000	0.82548	9.869000	0.99810	2.850000	0.98022	0.650000	0.86243	GAT	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163513		0.473	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	-	0	126	0	G			30715678	1	tier1	-	no_errors	ENST00000359013	ensembl	human	known	74_37	missense	18.03	99	22	SNP	1.000	A	A	30715678	G	A	30715678	3	1	103	1	0	0	0	0	1	0	0	0	15869	1058	37	1	1433	1	TGFBR2	3	30715678	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		30715678	167306752	23	28797											
TMCC1	23023	genome.wustl.edu	37	chr3	129373823	129373823	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atactaacctggatgtcccgGgcccgttcataggactgata	10	10	10	11	2	1	1	1	1	0	0	2	3	2	3	3	3	2	1	3	3	4	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:129373823G>C	ENST00000393238.3	-	5	1975	c.1635C>G	c.(1633-1635)gcC>gcG	p.A545A	TMCC1_ENST00000426664.2_Silent_p.A431A|TMCC1_ENST00000329333.5_Silent_p.A366A|TMCC1_ENST00000432054.2_Silent_p.A221A	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	545						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGATGTCCCGGGCCCGTTCAT	0.418																																																	0													141	143	143					3																	129373823		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1635C>G	3.37:g.129373823G>C			A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	pfam_Predicted_TM_coiled-coil_2	p.A545	ENST00000393238.3	37	c.1635	CCDS33855.1	3																																																																																			TMCC1	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000172765		0.418	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	-	0	39	0	G	NM_015008		129373823	-1	tier1	-	no_errors	ENST00000393238	ensembl	human	known	74_37	silent	27.69	47	18	SNP	0.979	C	C	129373823	G	C	129373823	2	2	103	1	0	0	0	0	0	0	0	1	16039	1219	43	5		5	TMCC1	3	129373823	Silent	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	98658145	129373823	68648607	24	28798											
ATP2C1	27032	genome.wustl.edu	37	chr3	130698257	130698257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcacaggagactgcagttGcaatcggtataactagactg	13	10	10	8	1	1	2	1	0	0	2	2	3	1	2	0	2	3	4	0	2	4	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:130698257G>T	ENST00000510168.1	+	19	2285	c.1735G>T	c.(1735-1737)Gca>Tca	p.A579S	ATP2C1_ENST00000508532.1_Missense_Mutation_p.A579S|ATP2C1_ENST00000328560.8_Missense_Mutation_p.A579S|ATP2C1_ENST00000504948.1_Missense_Mutation_p.A563S|ATP2C1_ENST00000533801.2_Missense_Mutation_p.A574S|ATP2C1_ENST00000422190.2_Missense_Mutation_p.A579S|ATP2C1_ENST00000513801.1_Missense_Mutation_p.A563S|ATP2C1_ENST00000359644.3_Missense_Mutation_p.A579S|ATP2C1_ENST00000507488.2_Missense_Mutation_p.A563S|ATP2C1_ENST00000504381.1_Missense_Mutation_p.A524S|ATP2C1_ENST00000393221.4_Missense_Mutation_p.A613S|ATP2C1_ENST00000428331.2_Missense_Mutation_p.A579S|ATP2C1_ENST00000505330.1_Missense_Mutation_p.A563S			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	579					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACTGCAGTTGCAATCGGTAT	0.348									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)												0													88	87	87					3																	130698257		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1735G>T	3.37:g.130698257G>T	ENSP00000427461:p.Ala579Ser		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.A613S	ENST00000510168.1	37	c.1837	CCDS46914.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.058664|3.058664	0.55325|0.55325	.|.	.|.	ENSG00000017260|ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000504612	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.96396|.	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0;-4.0|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);|.	0.050553|.	0.85682|.	D|.	0.000000|.	T|T	0.60869|0.60869	0.2302|0.2302	L|L	0.33189|0.33189	0.99|0.99	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P;P|.	0.38335|.	0.627;0.476;0.502;0.627;0.502;0.475;0.531|.	B;B;B;B;B;B;B|.	0.43950|.	0.31;0.361;0.437;0.233;0.437;0.233;0.344|.	T|T	0.53802|0.53802	-0.8387|-0.8387	10|5	0.51188|.	T|.	0.08|.	.|.	19.7806|19.7806	0.96414|0.96414	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	613;574;613;579;613;579;579|.	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194|.	.;.;.;.;.;.;AT2C1_HUMAN|.	S|F	563;524;563;613;574;579;579;563;563;579;579;579;579;578|532	ENSP00000423774:A563S;ENSP00000425320:A524S;ENSP00000421326:A563S;ENSP00000376914:A613S;ENSP00000432956:A574S;ENSP00000427461:A579S;ENSP00000424783:A579S;ENSP00000423330:A563S;ENSP00000422872:A563S;ENSP00000329664:A579S;ENSP00000395809:A579S;ENSP00000352665:A579S;ENSP00000402677:A579S|.	ENSP00000329664:A579S|.	A|L	+|+	1|3	0|2	ATP2C1|ATP2C1	132180947|132180947	1.000000|1.000000	0.71417|0.71417	0.458000|0.458000	0.27068|0.27068	0.885000|0.885000	0.51271|0.51271	4.986000|4.986000	0.63851|0.63851	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	GCA|TTG	ATP2C1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1	ENSG00000017260		0.348	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356648.2	-	0	50	0	G	NM_001001486		130698257	1	tier1	-	no_errors	ENST00000393221	ensembl	human	known	74_37	missense	5.56	67	4	SNP	1.000	T	T	130698257	G	T	130698257	3	4	103	1	0	0	0	0	1	0	0	0	1144	1319	46	3	1805	3	ATP2C1	3	130698257	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	1324434	130698257	67324173	25	28799											
TF	7018	genome.wustl.edu	37	chr3	133478024	133478024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttttatgccataggcccaGaagccccaacagatgaatgc	12	10	8	11	0	0	3	0	1	0	2	0	3	0	3	4	1	4	0	4	1	5	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:133478024G>A	ENST00000402696.3	+	9	1539	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TF_ENST00000264998.3_Missense_Mutation_p.E225K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	352					blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	CATAGGCCCAGAAGCCCCAAC	0.493																																																	0													149	152	151					3																	133478024		2203	4300	6503	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.1054G>A	3.37:g.133478024G>A	ENSP00000385834:p.Glu352Lys		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam	p.E352K	ENST00000402696.3	37	c.1054	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696172	0.30052	.	.	ENSG00000091513	ENST00000402696;ENST00000264998	T;T	0.02177	4.41;4.47	4.7	2.85	0.33270	.	1.212640	0.05604	N	0.576821	T	0.02929	0.0087	L	0.39020	1.185	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.46665	-0.9175	10	0.38643	T	0.18	-2.2942	8.1593	0.31190	0.0895:0.1587:0.7518:0.0	.	352	P02787	TRFE_HUMAN	K	352;225	ENSP00000385834:E352K;ENSP00000264998:E225K	ENSP00000264998:E225K	E	+	1	0	TF	134960714	0.099000	0.21834	0.006000	0.13384	0.095000	0.18619	2.035000	0.41155	0.553000	0.29044	0.313000	0.20887	GAA	TF	-	smart_Transferrin_fam,pirsf_Transferrin	ENSG00000091513		0.493	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	-	0	24	0	G	NM_001063		133478024	1	tier1	-	no_errors	ENST00000402696	ensembl	human	known	74_37	missense	15.56	38	7	SNP	0.068	A	A	133478024	G	A	133478024	3	1	103	1	0	0	0	0	1	0	0	0	15832	943	33	3	1088	3	TF	3	133478024	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	2779767	133478024	64544406	26	28800											
PEX5L	51555	genome.wustl.edu	37	chr3	179592166	179592166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgactcagagttgagggcGctttttccaccactcagttc	7	11	10	13	2	2	2	2	1	0	1	4	3	3	2	3	1	0	3	3	1	0	4	rs139208096		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:179592166G>A	ENST00000467460.1	-	7	1005	c.675C>T	c.(673-675)agC>agT	p.S225S	PEX5L_ENST00000464614.1_Silent_p.S117S|PEX5L_ENST00000465751.1_Silent_p.S201S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000263962.8_Silent_p.S223S|PEX5L_ENST00000468741.1_Silent_p.S33S|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Silent_p.S117S|PEX5L_ENST00000476138.1_Silent_p.S182S|PEX5L_ENST00000485199.1_Silent_p.S190S|PEX5L_ENST00000472994.1_Silent_p.S166S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	225					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGTTGAGGGCGCTTTTTCCAC	0.393																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	121	117	118		675	-5.4	1	3	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	PEX5L	NM_016559.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		225/627	179592166	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"Tetratricopeptide (TTC) repeat domain containing"	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.675C>T	3.37:g.179592166G>A			B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S225	ENST00000467460.1	37	c.675	CCDS3236.1	3																																																																																			PEX5L	-	NULL	ENSG00000114757		0.393	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	HGNC	protein_coding	OTTHUMT00000348577.1	-	0	86	0	G	NM_016559		179592166	-1	tier1	rs139208096	no_errors	ENST00000467460	ensembl	human	known	74_37	silent	16.16	83	16	SNP	0.812	A	A	179592166	G	A	179592166	2	1	103	1	0	0	0	0	0	0	0	1	11788	1078	38	1		1	PEX5L	3	179592166	Silent	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	46114142	179592166	18430264	27	28801											
ABCC5	10057	genome.wustl.edu	37	chr3	183669325	183669325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggatccttcggaaaagctCgtcatgcagccgggaggaag	12	6	14	9	3	1	0	1	0	0	0	4	4	2	4	2	4	3	2	2	4	4	1	rs369345548		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr3:183669325C>T	ENST00000334444.6	-	20	3088	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E950K	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	950	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CGGAAAAGCTCGTCATGCAGC	0.557																																																	0								C	LYS/GLU	0,4058		0,0,2029	68	74	72		2848	6	1	3		72	1,8401		0,1,4200	no	missense	ABCC5	NM_005688.2	56	0,1,6229	TT,TC,CC		0.0119,0.0,0.0080	benign	950/1438	183669325	1,12459	2029	4201	6230	SO:0001583	missense	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"ATP binding cassette transporters / subfamily C"	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2848G>A	3.37:g.183669325C>T	ENSP00000333926:p.Glu950Lys		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E950K	ENST00000334444.6	37	c.2848	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	12.81	2.048466	0.36181	0.0	1.19E-4	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.88431	-2.38;-2.38	6.02	6.02	0.97574	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.100151	0.64402	D	0.000001	T	0.74176	0.3682	N	0.01751	-0.74	0.50632	D	0.999881	B;B	0.23891	0.093;0.061	B;B	0.20955	0.032;0.014	T	0.72743	-0.4201	10	0.06494	T	0.89	-27.0095	20.5269	0.99230	0.0:1.0:0.0:0.0	.	950;950	Q86UX3;O15440	.;MRP5_HUMAN	K	950	ENSP00000333926:E950K;ENSP00000265586:E950K	ENSP00000265586:E950K	E	-	1	0	ABCC5	185152019	0.992000	0.36948	0.977000	0.42913	0.975000	0.68041	2.925000	0.48884	2.859000	0.98148	0.591000	0.81541	GAG	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000114770		0.557	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	-	0	40	0	C	NM_005688		183669325	-1	tier1	-	no_errors	ENST00000334444	ensembl	human	known	74_37	missense	18.00	41	9	SNP	0.996	T	T	183669325	C	T	183669325	3	4	103	1	0	0	0	0	1	0	0	0	56	893	31	1	1509	1	ABCC5	3	183669325	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	4077159	183669325	14353105	28	28802											
SEL1L3	23231	genome.wustl.edu	37	chr4	25760579	25760579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttcgtacagttcctGgagaatggagatgttattag	10	14	10	7	1	1	2	1	0	0	2	3	4	2	2	2	2	1	3	2	2	4	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:25760579G>T	ENST00000399878.3	-	21	3189	c.3067C>A	c.(3067-3069)Cag>Aag	p.Q1023K	SEL1L3_ENST00000264868.5_Missense_Mutation_p.Q988K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.Q870K	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	1023						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TACAGTTCCTGGAGAATGGAG	0.448																																																	0													119	114	116					4																	25760579		1863	4108	5971	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"KIAA0746 protein"					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.3067C>A	4.37:g.25760579G>T	ENSP00000382767:p.Gln1023Lys		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.Q1023K	ENST00000399878.3	37	c.3067	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	G	5.108	0.205494	0.09704	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000507618	T;T;T	0.12255	2.9;2.9;2.7	5.67	5.67	0.87782	.	0.837734	0.11113	N	0.598297	T	0.13200	0.0320	L	0.51422	1.61	0.33412	D	0.578794	B;B	0.19445	0.003;0.036	B;B	0.12837	0.004;0.008	T	0.19321	-1.0309	10	0.02654	T	1	-1.8509	13.0246	0.58808	0.0734:0.0:0.9266:0.0	.	430;1023	B4DTH5;Q68CR1	.;SE1L3_HUMAN	K	1023;988;870;114	ENSP00000382767:Q1023K;ENSP00000264868:Q988K;ENSP00000425438:Q870K	ENSP00000264868:Q988K	Q	-	1	0	SEL1L3	25369677	1.000000	0.71417	0.966000	0.40874	0.964000	0.63967	5.102000	0.64572	2.665000	0.90641	0.591000	0.81541	CAG	SEL1L3	-	NULL	ENSG00000091490		0.448	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	-	0	49	0	G	NM_015187		25760579	-1	tier1	-	no_errors	ENST00000399878	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.979	T	T	25760579	G	T	25760579	3	4	103	1	0	0	0	0	1	0	0	0	14057	1357	47	3	347	3	SEL1L3	4	25760579	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		25760579	165393697	29	28803											
PARM1	25849	genome.wustl.edu	37	chr4	75937793	75937793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaacaactcggtgctcccaGttacagcatcagccccaaca	13	6	6	16	1	1	0	1	0	0	0	3	0	2	0	3	1	7	3	3	1	4	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:75937793G>A	ENST00000307428.7	+	2	414	c.202G>A	c.(202-204)Gtt>Att	p.V68I	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	68					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						GGTGCTCCCAGTTACAGCATC	0.517																																																	0													146	141	143					4																	75937793		2107	4228	6335	SO:0001583	missense	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"Prostatic androgen-repressed message 1", "Castration-induced prostatic apoptosis-related protein 1", "WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.202G>A	4.37:g.75937793G>A	ENSP00000370224:p.Val68Ile		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.V68I	ENST00000307428.7	37	c.202	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660494	0.29515	.	.	ENSG00000169116	ENST00000307428	T	0.74947	-0.89	5.34	1.9	0.25705	.	0.953926	0.08694	N	0.907521	T	0.60248	0.2254	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.14578	0.011	T	0.45323	-0.9269	10	0.34782	T	0.22	-3.0E-4	6.9595	0.24590	0.3669:0.0:0.6331:0.0	.	68	Q6UWI2	PARM1_HUMAN	I	68	ENSP00000370224:V68I	ENSP00000370224:V68I	V	+	1	0	PARM1	76156817	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.552000	0.23376	0.041000	0.15688	0.563000	0.77884	GTT	PARM1	-	NULL	ENSG00000169116		0.517	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	-	0	46	0	G	NM_015393		75937793	1	tier1	-	no_errors	ENST00000307428	ensembl	human	known	74_37	missense	49.32	37	36	SNP	0.000	A	A	75937793	G	A	75937793	3	1	103	1	0	0	0	0	1	0	0	0	11491	1029	36	3	208	3	PARM1	4	75937793	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	50177214	75937793	115216483	30	28804											
FAM13A	10144	genome.wustl.edu	37	chr4	89859293	89859293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagatgatcattttctgtAtactctacttcaaacagggt	11	15	6	9	0	5	2	3	1	2	1	5	2	5	2	0	1	3	1	0	1	4	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:89859293A>G	ENST00000264344.5	-	5	912	c.705T>C	c.(703-705)taT>taC	p.Y235Y	FAM13A_ENST00000509094.1_Silent_p.Y235Y|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Silent_p.Y26Y	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	235					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.Y235Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CATTTTCTGTATACTCTACTT	0.368																																																	1	Substitution - coding silent(1)	large_intestine(1)											111	109	109					4																	89859293		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"Rho GTPase activating proteins"	19367	protein-coding gene	gene with protein product		613299	"family with sequence similarity 13, member A1"	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.705T>C	4.37:g.89859293A>G			B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Y235	ENST00000264344.5	37	c.705	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.368	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	-	0	31	0	A			89859293	-1	tier1	-	no_errors	ENST00000264344	ensembl	human	known	74_37	silent	19.44	29	7	SNP	0.022	G	G	89859293	A	G	89859293	2	3	103	1	0	0	0	0	0	0	0	1	5471	456	16	4		4	FAM13A	4	89859293	Silent	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	13921500	89859293	101294983	31	28805											
MAP9	79884	genome.wustl.edu	37	chr4	156274406	156274406	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttcaagcctctttttGgcagctattttctttgcttc	4	22	5	10	0	4	0	1	0	3	0	5	0	4	0	1	1	3	3	1	1	2	10			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr4:156274406G>T	ENST00000311277.4	-	11	1730	c.1467C>A	c.(1465-1467)gcC>gcA	p.A489A	AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Silent_p.A465A	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	489					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GCCTCTTTTTGGCAGCTATTT	0.358																																																	0													98	94	95					4																	156274406		2203	4297	6500	SO:0001819	synonymous_variant	0			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"aster-associated protein"	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1467C>A	4.37:g.156274406G>T			Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Silent	SNP	NULL	p.A489	ENST00000311277.4	37	c.1467	CCDS35493.1	4																																																																																			MAP9	-	NULL	ENSG00000164114		0.358	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	-	0	43	0	G	NM_001039580		156274406	-1	tier1	-	no_errors	ENST00000311277	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.038	T	T	156274406	G	T	156274406	2	4	103	1	0	0	0	0	0	0	0	1	9308	1335	47	3		3	MAP9	4	156274406	Silent	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	66415113	156274406	34879870	32	28806											
MAP3K1	4214	genome.wustl.edu	37	chr5	56180554	56180554	+	Frame_Shift_Del	DEL	A	A	-																															tagaagcactaagagaagagAtaagaatgatgagccatctg																										TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:56180554delA	ENST00000399503.3	+	16	3883	c.3883delA	c.(3883-3885)atafs	p.I1295fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGAGAAGAGATAAGAATGAT	0.388																																																	0													109	102	104					5																	56180554		1910	4120	6030	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6848	protein-coding gene	gene with protein product		600982	"mitogen-activated protein kinase kinase kinase 1"	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3883delA	5.37:g.56180554delA	ENSP00000382423:p.Ile1295fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.I1295fs	ENST00000399503.3	37	c.3883	CCDS43318.1	5																																																																																			MAP3K1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000095015		0.388	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2		0	31	0	A	XM_042066		56180554	1	tier1		no_errors	ENST00000399503	ensembl	human	novel	74_37	frame_shift_del	21.74	36	10	DEL	1.000	-	-	56180554	A	-	56180554	7	5	103	1	0	1	0	1	0	0	0	0	9281	333	12	0	3945	0	MAP3K1	5	56180554	Frame_Shift_Del	DEL	A	TCGA-LN-A49P-01A-11D-A247-09		56180554	124734706	33	28807											
THBS4	7060	genome.wustl.edu	37	chr5	79378262	79378263	+	Missense_Mutation	DNP	TG	TG	GT																															gaaggctctgagttggtggcTgactctggcgtcaccataga																										TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:79378262_79378263TG>GT	ENST00000350881.2	+	21	2908_2909	c.2718_2719TG>GT	c.(2716-2721)gcTGac>gcGTac	p.D907Y	THBS4_ENST00000511733.1_Missense_Mutation_p.D816Y|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	907	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGTTGGTGGCTGACTCTGGCGT	0.55																																																	0																																										SO:0001583	missense	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	Exception_encountered	5.37:g.79378262_79378263delinsGT	ENSP00000339730:p.Asp907Tyr		B2R909|Q86TG2	Silent|Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.A906|p.D907Y	ENST00000350881.2	37	c.2718|c.2719	CCDS4049.1	5																																																																																			THBS4	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000113296		0.55	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1		0	68|69	0	T|G			79378262|79378263	1			no_errors	ENST00000350881	ensembl	human	known	74_37	silent|missense	13.70|14.08	63|61	10	SNP	0.128|1.000	G|T	GT	79378263	TG	GT	79378262	3	3	103	1	0	0	0	0	1	0	0	0	15903	1567	55	4	2800	4	THBS4	5	79378262	Missense_Mutation	DNP	TG	TCGA-LN-A49P-01A-11D-A247-09	23197708	79378262	101536998	34	28808											
PHF15	23338	genome.wustl.edu	37	chr5	133895550	133895550	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactggaaggcccccctgcCcaggcatccccgagcagcac	8	3	10	20	1	0	0	0	0	0	0	1	2	1	1	7	3	3	3	7	3	1	0			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:133895550C>T	ENST00000402835.1	+	5	597	c.342C>T	c.(340-342)gcC>gcT	p.A114A	PHF15_ENST00000395003.1_Silent_p.A114A|PHF15_ENST00000361895.2_Silent_p.A114A|PHF15_ENST00000282605.4_Silent_p.A114A																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCCCCTGCCCAGGCATCCC	0.632																																																	0													43	42	42					5																	133895550		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000402835.1:c.342C>T	5.37:g.133895550C>T				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A114	ENST00000402835.1	37	c.342		5																																																																																			PHF15	-	pfam_Enhancer_polycomb-like_N	ENSG00000043143		0.632	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	-	0	52	0	C			133895550	1	tier1	-	no_errors	ENST00000395003	ensembl	human	known	74_37	silent	14.74	81	14	SNP	0.012	T	T	133895550	C	T	133895550	2	4	103	1	0	0	0	0	0	0	0	1	11865	610	22	3		3	PHF15	5	133895550	Silent	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	54517288	133895550	47019710	35	28809											
SYNPO	11346	genome.wustl.edu	37	chr5	150029259	150029259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccaaccagaacctctcCgaggcctctgggaagggagc	12	4	11	14	1	2	1	0	0	2	1	3	4	2	3	5	3	4	0	5	3	4	0			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:150029259C>T	ENST00000394243.1	+	3	2528	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	SYNPO_ENST00000519664.1_Silent_p.S474S|SYNPO_ENST00000307662.4_Silent_p.S474S|SYNPO_ENST00000522122.1_Silent_p.S718S	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	718					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAACCTCTCCGAGGCCTCTG	0.652																																																	0													39	44	42					5																	150029259		2203	4300	6503	SO:0001819	synonymous_variant	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2154C>T	5.37:g.150029259C>T			A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	NULL	p.S718	ENST00000394243.1	37	c.2154	CCDS54937.1	5																																																																																			SYNPO	-	NULL	ENSG00000171992		0.652	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	-	0	32	0	C	NM_007286		150029259	1	tier1	-	no_errors	ENST00000394243	ensembl	human	known	74_37	silent	58.06	13	18	SNP	0.001	T	T	150029259	C	T	150029259	2	4	103	1	0	0	0	0	0	0	0	1	15503	639	23	1		1	SYNPO	5	150029259	Silent	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	16133709	150029259	30886001	36	28810											
DOCK2	1794	genome.wustl.edu	37	chr5	169507274	169507274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttgccagccagtccatGcctaccatcccaggtatgcc	8	9	8	16	0	0	0	0	0	0	0	2	0	2	0	7	1	6	2	7	1	2	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr5:169507274G>A	ENST00000256935.8	+	50	5354	c.5274G>A	c.(5272-5274)atG>atA	p.M1758I	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.M819I|DOCK2_ENST00000520908.1_Missense_Mutation_p.M1250I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1758					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAGTCCATGCCTACCATCC	0.582																																																	0													113	94	100					5																	169507274		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5274G>A	5.37:g.169507274G>A	ENSP00000256935:p.Met1758Ile		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.M1758I	ENST00000256935.8	37	c.5274	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838003	0.71373	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08458	3.77;3.39;3.09	5.42	5.42	0.78866	.	0.239029	0.42294	D	0.000721	T	0.07369	0.0186	N	0.19112	0.55	0.46096	D	0.998862	B;P;B	0.39831	0.278;0.69;0.07	B;B;B	0.36666	0.057;0.23;0.016	T	0.39210	-0.9625	10	0.37606	T	0.19	.	18.0424	0.89322	0.0:0.0:1.0:0.0	.	1250;314;1758	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	I	1758;1250;819	ENSP00000256935:M1758I;ENSP00000429283:M1250I;ENSP00000438827:M819I	ENSP00000256935:M1758I	M	+	3	0	DOCK2	169439852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.755000	0.85180	2.554000	0.86153	0.650000	0.86243	ATG	DOCK2	-	NULL	ENSG00000134516		0.582	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0	59	0	G	NM_004946		169507274	1	tier1	-	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	9.30	78	8	SNP	1.000	A	A	169507274	G	A	169507274	3	1	103	1	0	0	0	0	1	0	0	0	4701	1319	46	3	5472	3	DOCK2	5	169507274	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	19478015	169507274	11407986	37	28811											
KIF6	221458	genome.wustl.edu	37	chr6	39688580	39688580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttttcatcttcatctatgGaataaatctgcaaatgtgaa	14	16	5	6	0	5	1	2	1	3	0	5	2	5	2	0	1	1	1	0	1	6	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:39688580G>T	ENST00000287152.7	-	2	168	c.74C>A	c.(73-75)tCc>tAc	p.S25Y	KIF6_ENST00000373216.3_Missense_Mutation_p.S25Y|KIF6_ENST00000538893.1_Missense_Mutation_p.S25Y|KIF6_ENST00000373215.3_Missense_Mutation_p.S25Y	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	25	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCATCTATGGAATAAATCTG	0.308																																																	0													75	79	78					6																	39688580		2203	4297	6500	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"Kinesins"	21202	protein-coding gene	gene with protein product		613919	"chromosome 6 open reading frame 102"	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.74C>A	6.37:g.39688580G>T	ENSP00000287152:p.Ser25Tyr		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S25Y	ENST00000287152.7	37	c.74	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738218	0.69304	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373215;ENST00000538893	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	6.06	6.06	0.98353	Kinesin, motor domain (3);	.	.	.	.	T	0.73257	0.3564	L	0.39898	1.24	0.80722	D	1	D;D;D	0.62365	0.989;0.981;0.991	P;P;P	0.61477	0.772;0.836;0.889	T	0.73898	-0.3837	9	0.59425	D	0.04	.	18.3939	0.90492	0.0:0.0:1.0:0.0	.	25;25;25	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	Y	25	ENSP00000287152:S25Y;ENSP00000362312:S25Y;ENSP00000362311:S25Y;ENSP00000441435:S25Y	ENSP00000287152:S25Y	S	-	2	0	KIF6	39796558	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.370000	0.73114	2.882000	0.98803	0.655000	0.94253	TCC	KIF6	-	superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000164627		0.308	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0	38	0	G	NM_145027		39688580	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	39688580	G	T	39688580	3	4	103	1	0	0	0	0	1	0	0	0	8335	1174	41	3	2458	3	KIF6	6	39688580	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		39688580	131426487	38	28812											
FAM135A	57579	genome.wustl.edu	37	chr6	71234985	71234985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatcattaactaaattacGaagtaatctacctgcccctt	15	12	4	10	1	2	1	1	0	1	1	2	2	2	1	3	0	4	1	3	0	8	6	rs143752744	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:71234985G>A	ENST00000418814.2	+	15	2812	c.2198G>A	c.(2197-2199)cGa>cAa	p.R733Q	FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Missense_Mutation_p.R537Q|FAM135A_ENST00000457062.2_Missense_Mutation_p.R520Q|FAM135A_ENST00000505868.1_Missense_Mutation_p.R733Q|FAM135A_ENST00000370479.3_Missense_Mutation_p.R520Q	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	733										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ACTAAATTACGAAGTAATCTA	0.323													G|||	5	0.000998403	0.0038	0	5008	,	,		20315	0		0	False		,,,				2504	0																0								G	GLN/ARG,GLN/ARG,GLN/ARG	11,4395	16.8+/-37.8	0,11,2192	52	55	54		1610,2198,1559	4.9	1	6	dbSNP_134	54	0,8598		0,0,4299	yes	missense,missense,missense	FAM135A	NM_001105531.2,NM_001162529.1,NM_020819.4	43,43,43	0,11,6491	AA,AG,GG		0.0,0.2497,0.0846	possibly-damaging,possibly-damaging,possibly-damaging	537/1320,733/1516,520/1303	71234985	11,12993	2203	4299	6502	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"KIAA1411"	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.2198G>A	6.37:g.71234985G>A	ENSP00000410768:p.Arg733Gln		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.R733Q	ENST00000418814.2	37	c.2198	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354230	0.41700	0.002497	0.0	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	5.88	4.9	0.64082	.	0.049200	0.85682	D	0.000000	T	0.21631	0.0521	M	0.61703	1.905	0.28350	N	0.920946	B;P;P;P	0.42871	0.126;0.547;0.756;0.792	B;B;B;B	0.37267	0.02;0.086;0.173;0.245	T	0.30119	-0.9989	10	0.37606	T	0.19	.	3.1237	0.06400	0.2171:0.2748:0.5081:0.0	.	733;733;537;520	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	Q	733;520;520;537;733	ENSP00000410768:R733Q;ENSP00000359510:R520Q;ENSP00000409201:R520Q;ENSP00000354913:R537Q;ENSP00000423307:R733Q	ENSP00000354913:R537Q	R	+	2	0	FAM135A	71291706	0.971000	0.33674	1.000000	0.80357	0.902000	0.53008	1.504000	0.35726	2.780000	0.95670	0.655000	0.94253	CGA	FAM135A	-	NULL	ENSG00000082269		0.323	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2	-	0	29	0	G	NM_020819		71234985	1	tier1	rs143752744	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	A	A	71234985	G	A	71234985	3	1	103	1	0	0	0	0	1	0	0	0	5467	1058	37	1	2326	1	FAM135A	6	71234985	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	31546405	71234985	99880082	39	28813											
POPDC3	64208	genome.wustl.edu	37	chr6	105606536	105606536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagcactgaaaaaaggcGggagatgtagcgatgctgag	15	7	14	5	2	0	3	0	2	0	1	0	5	0	3	0	2	3	3	0	2	6	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:105606536G>A	ENST00000254765.3	-	4	963	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	229					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.R229S(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GAAAAAAGGCGGGAGATGTAG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											205	210	208					6																	105606536		2203	4300	6503	SO:0001583	missense	0			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.685C>T	6.37:g.105606536G>A	ENSP00000254765:p.Arg229Cys		B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.R229C	ENST00000254765.3	37	c.685	CCDS5052.1	6	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134178	0.56828	.	.	ENSG00000132429	ENST00000254765;ENST00000429112	T;T	0.34667	1.35;1.35	5.99	5.99	0.97316	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.226336	0.38164	N	0.001789	T	0.51584	0.1683	M	0.75447	2.3	0.52501	D	0.999952	D	0.89917	1.0	D	0.67231	0.95	T	0.50065	-0.8871	10	0.51188	T	0.08	0.119	15.2061	0.73180	0.0:0.0:0.8592:0.1408	.	229	Q9HBV1	POPD3_HUMAN	C	229;75	ENSP00000254765:R229C;ENSP00000414409:R75C	ENSP00000254765:R229C	R	-	1	0	POPDC3	105713229	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	3.042000	0.49815	2.843000	0.97960	0.591000	0.81541	CGC	POPDC3	-	pfam_Popeye_prot,superfamily_cNMP-bd-like	ENSG00000132429		0.393	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POPDC3	HGNC	protein_coding	OTTHUMT00000041651.1	-	0	32	0	G	NM_022361		105606536	-1	tier1	-	no_errors	ENST00000254765	ensembl	human	known	74_37	missense	44.23	29	23	SNP	1.000	A	A	105606536	G	A	105606536	3	1	103	1	0	0	0	0	1	0	0	0	12295	1116	39	1	194	1	POPDC3	6	105606536	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	34371551	105606536	65508531	40	28814											
ARID1B	57492	genome.wustl.edu	37	chr6	157469897	157469897	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgctgtgcccctgggAcgaatgccatcagctgggat	6	10	15	10	1	1	0	1	0	0	0	1	3	1	2	3	3	4	2	3	3	1	0			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:157469897A>T	ENST00000350026.5	+	8	2653	c.2652A>T	c.(2650-2652)ggA>ggT	p.G884G	ARID1B_ENST00000367148.1_Silent_p.G884G|ARID1B_ENST00000346085.5_Silent_p.G897G|ARID1B_ENST00000275248.4_Silent_p.G826G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	884					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGCCCCTGGGACGAATGCCAT	0.587																																																	0													120	108	112					6																	157469897		2203	4296	6499	SO:0001819	synonymous_variant	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2652A>T	6.37:g.157469897A>T			Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G884	ENST00000350026.5	37	c.2652	CCDS5251.2	6																																																																																			ARID1B	-	NULL	ENSG00000049618		0.587	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	-	0	62	0	A	NM_020732		157469897	1	tier1	-	no_errors	ENST00000367148	ensembl	human	known	74_37	silent	30.00	56	24	SNP	1.000	T	T	157469897	A	T	157469897	2	4	103	1	0	0	0	0	0	0	0	1	914	262	10	5		5	ARID1B	6	157469897	Silent	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	51863361	157469897	13645170	41	28815											
FNDC1	84624	genome.wustl.edu	37	chr6	159692412	159692412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgggaacatcggcttcGgaaccccctactactatgtg	8	11	11	11	2	0	0	0	0	0	0	2	2	0	2	2	4	4	2	2	4	5	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:159692412G>A	ENST00000297267.9	+	23	5823	c.5623G>A	c.(5623-5625)Gga>Aga	p.G1875R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1812R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1875					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATCGGCTTCGGAACCCCCTA	0.582																																																	0													55	56	56					6																	159692412		1954	4150	6104	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5623G>A	6.37:g.159692412G>A	ENSP00000297267:p.Gly1875Arg		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G1875R	ENST00000297267.9	37	c.5623	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.93|13.93	2.383170|2.383170	0.42207|0.42207	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.41065|.	1.01;1.01|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.129686|.	0.56097|.	D|.	0.000040|.	T|T	0.12475|0.12475	0.0303|0.0303	N|N	0.02539|0.02539	-0.55|-0.55	0.36387|0.36387	D|D	0.862266|0.862266	P|.	0.52577|.	0.954|.	B|.	0.40659|.	0.336|.	T|T	0.11966|0.11966	-1.0566|-1.0566	9|5	.|.	.|.	.|.	-23.3824|-23.3824	11.3036|11.3036	0.49320|0.49320	0.1097:0.0:0.8903:0.0|0.1097:0.0:0.8903:0.0	.|.	1875|.	Q4ZHG4|.	FNDC1_HUMAN|.	R|Q	1875;1812|1770	ENSP00000297267:G1875R;ENSP00000342460:G1812R|.	.|.	G|R	+|+	1|2	0|0	FNDC1|FNDC1	159612402|159612402	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.475000|0.475000	0.33008|0.33008	5.330000|5.330000	0.65899|0.65899	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGA|CGG	FNDC1	-	NULL	ENSG00000164694		0.582	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	-	0	93	0	G	NM_032532		159692412	1	tier1	-	no_errors	ENST00000297267	ensembl	human	known	74_37	missense	48.96	49	47	SNP	0.968	A	A	159692412	G	A	159692412	3	1	103	1	0	0	0	0	1	0	0	0	5990	1117	39	1	5713	1	FNDC1	6	159692412	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	2222515	159692412	11422655	42	28816											
MAP3K4	4216	genome.wustl.edu	37	chr6	161470625	161470625	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccaaaggtaatgagccgGagtatgagggtgatgacaca	14	7	13	7	1	0	4	0	4	0	0	1	5	1	5	2	3	1	2	2	3	3	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr6:161470625G>T	ENST00000392142.4	+	3	1469	c.1321G>T	c.(1321-1323)Gag>Tag	p.E441*	MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E441*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E441*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E441*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	441					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAATGAGCCGGAGTATGAGGG	0.448																																																	0													85	83	84					6																	161470625		2203	4300	6503	SO:0001587	stop_gained	0			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1321G>T	6.37:g.161470625G>T	ENSP00000375986:p.Glu441*		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E441*	ENST00000392142.4	37	c.1321	CCDS34565.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.388452	0.98252	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.82	4.95	0.65309	.	0.265311	0.32106	N	0.006570	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-15.7627	14.7733	0.69696	0.0692:0.0:0.9308:0.0	.	.	.	.	X	441	.	ENSP00000297332:E441X	E	+	1	0	MAP3K4	161390615	1.000000	0.71417	0.008000	0.14137	0.973000	0.67179	9.195000	0.94971	1.453000	0.47775	0.650000	0.86243	GAG	MAP3K4	-	NULL	ENSG00000085511		0.448	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	-	0	74	0	G			161470625	1	tier1	-	no_errors	ENST00000392142	ensembl	human	known	74_37	nonsense	6.06	62	4	SNP	0.870	T	T	161470625	G	T	161470625	4	4	103	1	0	0	0	0	0	1	0	0	9290	1175	41	3	1331	3	MAP3K4	6	161470625	Nonsense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	1778213	161470625	9644442	43	28817											
PKD1L1	168507	genome.wustl.edu	37	chr7	47851429	47851429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctggggaagcatgaGgtggtactgcagggctgagt	8	8	17	8	0	1	2	1	2	0	0	1	3	1	3	1	5	3	5	1	5	2	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:47851429G>A	ENST00000289672.2	-	50	7617	c.7567C>T	c.(7567-7569)Ctc>Ttc	p.L2523F	PKD1L1_ENST00000462350.1_5'Flank|C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2523					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAAGCATGAGGTGGTACTGC	0.617																																																	0													39	31	33					7																	47851429		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7567C>T	7.37:g.47851429G>A	ENSP00000289672:p.Leu2523Phe		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.L2523F	ENST00000289672.2	37	c.7567	CCDS34633.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.82|10.82	1.457571|1.457571	0.26161|0.26161	.|.	.|.	ENSG00000158683|ENSG00000158683	ENST00000289672|ENST00000433506	T|.	0.72394|.	-0.65|.	5.3|5.3	-0.252|-0.252	0.12999|0.12999	Polycystin cation channel, PKD1/PKD2 (1);|.	1.559650|.	0.04342|.	N|.	0.354294|.	T|T	0.26268|0.26268	0.0641|0.0641	L|L	0.38838|0.38838	1.175|1.175	0.09310|0.09310	N|N	1|1	D|.	0.60160|.	0.987|.	P|.	0.55508|.	0.777|.	T|T	0.27157|0.27157	-1.0082|-1.0082	10|5	0.59425|.	D|.	0.04|.	-10.1303|-10.1303	3.796|3.796	0.08740|0.08740	0.0861:0.1228:0.2656:0.5255|0.0861:0.1228:0.2656:0.5255	.|.	2523|.	Q8TDX9|.	PK1L1_HUMAN|.	F|L	2523|113	ENSP00000289672:L2523F|.	ENSP00000289672:L2523F|.	L|P	-|-	1|2	0|0	PKD1L1|PKD1L1	47817954|47817954	0.009000|0.009000	0.17119|0.17119	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.921000|0.921000	0.28718|0.28718	0.214000|0.214000	0.20742|0.20742	-0.380000|-0.380000	0.06706|0.06706	CTC|CCT	PKD1L1	-	pfam_PKD1_2_channel	ENSG00000158683		0.617	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0	52	0	G	NM_138295		47851429	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.000	A	A	47851429	G	A	47851429	3	1	103	1	0	0	0	0	1	0	0	0	12003	1000	35	3	1014	3	PKD1L1	7	47851429	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		47851429	111287234	44	28818											
ZNF479	90827	genome.wustl.edu	37	chr7	57187818	57187818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcttcacatttgtagggtCtctctccagtatgaattctc	8	17	6	10	0	5	1	1	1	4	0	8	1	5	1	1	1	0	2	1	1	3	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:57187818C>T	ENST00000331162.4	-	5	1574	c.1304G>A	c.(1303-1305)aGa>aAa	p.R435K		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	435					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGTAGGGTCTCTCTCCAGT	0.438																																																	0													9	8	8					7																	57187818		1573	3581	5154	SO:0001583	missense	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"Zinc fingers, C2H2-type", "-"	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1304G>A	7.37:g.57187818C>T	ENSP00000333776:p.Arg435Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R435K	ENST00000331162.4	37	c.1304	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.091812	0.00364	.	.	ENSG00000185177	ENST00000331162	T	0.12361	2.69	0.955	-1.91	0.07641	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	N	0.01522	-0.82	0.20764	N	0.99985	B	0.06786	0.001	B	0.06405	0.002	T	0.37220	-0.9715	9	0.02654	T	1	.	5.9969	0.19499	0.0:0.2446:0.0:0.7554	.	435	Q96JC4	ZN479_HUMAN	K	435	ENSP00000333776:R435K	ENSP00000333776:R435K	R	-	2	0	ZNF479	57191760	0.604000	0.26932	0.002000	0.10522	0.002000	0.02628	-0.010000	0.12743	-1.413000	0.02027	-1.417000	0.01113	AGA	ZNF479	-	pfscan_Znf_C2H2	ENSG00000185177		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1		0	65	0	C	XM_291202		57187818	-1			no_errors	ENST00000331162	ensembl	human	known	74_37	missense	6.85	68	5	SNP	0.990	T	T	57187818	C	T	57187818	3	4	103	1	0	0	0	0	1	0	0	0	17981	913	32	3	274	3	ZNF479	7	57187818	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	9336389	57187818	101950845	45	28819											
DMTF1	9988	genome.wustl.edu	37	chr7	86815159	86815162	+	Frame_Shift_Del	DEL	ATGT	ATGT	-																															ctgtaggatagcagaacttgAtgtagctgatgaaaatgaca																										TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	ATGT	ATGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:86815159_86815162delATGT	ENST00000394703.5	+	14	1627_1630	c.1064_1067delATGT	c.(1063-1068)gatgtafs	p.DV355fs	DMTF1_ENST00000331242.7_Frame_Shift_Del_p.DV355fs|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.DV355fs|DMTF1_ENST00000414194.2_Frame_Shift_Del_p.DV89fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.DV267fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	355	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GCAGAACTTGATGTAGCTGATGAA	0.407																																																	0																																										SO:0001589	frameshift_variant	0			AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"cyclin D-binding Myb-like protein"	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1064_1067delATGT	7.37:g.86815159_86815162delATGT	ENSP00000378193:p.Asp355fs		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Frame_Shift_Del	DEL	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.D355fs	ENST00000394703.5	37	c.1064_1067	CCDS5601.1	7																																																																																			DMTF1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000135164		0.407	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	DMTF1	HGNC	protein_coding	OTTHUMT00000334025.5		0	108	0	ATGT	NM_021145		86815162	1	tier1		no_errors	ENST00000331242	ensembl	human	known	74_37	frame_shift_del	29.56	112	47	DEL	1.000:0.998:1.000:1.000	-	-	86815162	ATGT	-	86815159	7	5	103	1	0	1	0	1	0	0	0	0	4606	333	12	0	1102	0	DMTF1	7	86815159	Frame_Shift_Del	DEL	ATGT	TCGA-LN-A49P-01A-11D-A247-09	29627341	86815159	72323504	46	28820											
GRM8	2918	genome.wustl.edu	37	chr7	126173838	126173838	+	Frame_Shift_Del	DEL	G	G	-																															gttcacagtgccagcagcaaGggacccctttcaccgttttc																										TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:126173838delG	ENST00000339582.2	-	9	2406	c.1598delC	c.(1597-1599)cctfs	p.P533fs	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000358373.3_Frame_Shift_Del_p.P533fs|GRM8_ENST00000444921.2_Frame_Shift_Del_p.P533fs			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	533					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCAGCAGCAAGGGACCCCTTT	0.552										HNSCC(24;0.065)																																							0													102	99	100					7																	126173838		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1598delC	7.37:g.126173838delG	ENSP00000344173:p.Pro533fs		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Frame_Shift_Del	DEL	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.P533fs	ENST00000339582.2	37	c.1598	CCDS5794.1	7																																																																																			GRM8	-	pfam_GPCR_3_9-Cys_dom	ENSG00000179603		0.552	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4		0	103	0	G			126173838	-1	tier1		no_errors	ENST00000339582	ensembl	human	known	74_37	frame_shift_del	13.92	136	22	DEL	1.000	-	-	126173838	G	-	126173838	7	5	103	1	0	1	0	1	0	0	0	0	6830	1000	35	0	1190	0	GRM8	7	126173838	Frame_Shift_Del	DEL	G	TCGA-LN-A49P-01A-11D-A247-09	39358679	126173838	32964825	47	28821											
DGKI	9162	genome.wustl.edu	37	chr7	137206686	137206686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttgttcacccggatcCtcagacgatctgggacagac	9	11	10	11	2	3	3	2	1	1	2	4	6	4	5	2	2	0	1	2	2	0	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr7:137206686C>G	ENST00000288490.5	-	21	2174	c.2174G>C	c.(2173-2175)aGg>aCg	p.R725T	DGKI_ENST00000446122.1_Missense_Mutation_p.R725T|DGKI_ENST00000424189.2_Missense_Mutation_p.R746T|DGKI_ENST00000453654.2_Missense_Mutation_p.R425T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	725					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACCCGGATCCTCAGACGATC	0.453																																																	0													88	77	80					7																	137206686		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2174G>C	7.37:g.137206686C>G	ENSP00000288490:p.Arg725Thr		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R725T	ENST00000288490.5	37	c.2174	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824182	0.90955	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.40225	1.66;1.04;1.26	5.87	5.87	0.94306	.	0.096946	0.64402	D	0.000001	T	0.60971	0.2310	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.992;0.996	P;D	0.63703	0.811;0.917	T	0.58584	-0.7611	10	0.62326	D	0.03	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	425;725	E9PFX6;O75912	.;DGKI_HUMAN	T	425;673;746;725;725	ENSP00000392161:R425T;ENSP00000288490:R725T;ENSP00000399131:R725T	ENSP00000288490:R725T	R	-	2	0	DGKI	136857226	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.838000	0.62803	2.941000	0.99782	0.655000	0.94253	AGG	DGKI	-	NULL	ENSG00000157680		0.453	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	41	0	C	NM_004717		137206686	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	17.19	53	11	SNP	1.000	G	G	137206686	C	G	137206686	3	3	103	1	0	0	0	0	1	0	0	0	4485	681	24	5	1079	5	DGKI	7	137206686	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	11032848	137206686	21931977	48	28822											
SLC18A1	6570	genome.wustl.edu	37	chr8	20007219	20007219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctactaccagcatccCgattagggaacacagccacc	12	6	8	15	1	0	0	0	0	0	0	1	2	1	1	5	2	6	2	5	2	5	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:20007219C>T	ENST00000276373.5	-	12	1380	c.1114G>A	c.(1114-1116)Ggg>Agg	p.G372R	SLC18A1_ENST00000265808.7_Missense_Mutation_p.G340R|SLC18A1_ENST00000437980.1_Missense_Mutation_p.G372R|SLC18A1_ENST00000440926.1_Missense_Mutation_p.G372R|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G340R|SLC18A1_ENST00000381608.4_Missense_Mutation_p.G372R	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	372					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G372R(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ACCAGCATCCCGATTAGGGAA	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)											82	82	82					8																	20007219		2203	4300	6503	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1114G>A	8.37:g.20007219C>T	ENSP00000276373:p.Gly372Arg		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R	p.G372R	ENST00000276373.5	37	c.1114	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873258	0.72180	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608	T;D;D;D;T;D	0.84589	-0.25;-1.87;-1.87;-1.87;-0.25;-1.87	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051961	0.85682	D	0.000000	D	0.94503	0.8230	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.998	D	0.95115	0.8241	10	0.87932	D	0	-17.0792	18.8623	0.92278	0.0:1.0:0.0:0.0	.	372;340;372	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	R	340;372;372;372;340;372	ENSP00000265808:G340R;ENSP00000276373:G372R;ENSP00000387549:G372R;ENSP00000413361:G372R;ENSP00000429664:G340R;ENSP00000371021:G372R	ENSP00000265808:G340R	G	-	1	0	SLC18A1	20051499	1.000000	0.71417	0.995000	0.50966	0.228000	0.25075	7.525000	0.81892	2.793000	0.96121	0.655000	0.94253	GGG	SLC18A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000036565		0.542	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	HGNC	protein_coding	OTTHUMT00000214106.1		0	22	0	C			20007219	-1			no_errors	ENST00000276373	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T	T	20007219	C	T	20007219	3	4	103	1	0	0	0	0	1	0	0	0	14470	652	23	1	483	1	SLC18A1	8	20007219	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09		20007219	126356803	49	28823											
GINS4	84296	genome.wustl.edu	37	chr8	41393951	41393951	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagaatgtgtcatggaaCagctggagcacatggtaaga	13	10	13	5	0	1	2	1	0	0	2	1	4	1	4	0	3	3	4	0	3	4	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:41393951C>T	ENST00000276533.3	+	3	379	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	GINS4_ENST00000523277.2_Nonsense_Mutation_p.Q57*|GINS4_ENST00000520710.1_Nonsense_Mutation_p.Q57*|GINS4_ENST00000518671.1_Nonsense_Mutation_p.Q57*|RP11-360L9.4_ENST00000523081.1_RNA	NM_032336.2	NP_115712.1	Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	57					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TGTCATGGAACAGCTGGAGCA	0.473																																																	0													144	120	128					8																	41393951		2203	4300	6503	SO:0001587	stop_gained	0			BC005995	CCDS6116.1	8p11.21	2006-05-04			ENSG00000147536	ENSG00000147536			28226	protein-coding gene	gene with protein product		610611				12477932	Standard	NM_032336		Approved	MGC14799, SLD5	uc003xnx.3	Q9BRT9	OTTHUMG00000164079	ENST00000276533.3:c.169C>T	8.37:g.41393951C>T	ENSP00000276533:p.Gln57*		B2R8H5|D3DSY0|Q8N648	Nonsense_Mutation	SNP	pfam_GINS_complex,pirsf_GINS_Sld5	p.Q57*	ENST00000276533.3	37	c.169	CCDS6116.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.097495	0.97281	.	.	ENSG00000147536	ENST00000276533;ENST00000520710;ENST00000518671;ENST00000523277	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-21.156	17.622	0.88084	0.0:1.0:0.0:0.0	.	.	.	.	X	57	.	ENSP00000276533:Q57X	Q	+	1	0	GINS4	41513108	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.345000	0.79337	2.404000	0.81709	0.655000	0.94253	CAG	GINS4	-	pirsf_GINS_Sld5	ENSG00000147536		0.473	GINS4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS4	HGNC	protein_coding	OTTHUMT00000377150.1	-	0	65	0	C	NM_032336		41393951	1	tier1	-	no_errors	ENST00000276533	ensembl	human	known	74_37	nonsense	18.60	70	16	SNP	1.000	T	T	41393951	C	T	41393951	4	4	103	1	0	0	0	0	0	1	0	0	6416	479	17	3	175	3	GINS4	8	41393951	Nonsense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	21386732	41393951	104970071	50	28824											
EFCAB1	79645	genome.wustl.edu	37	chr8	49643126	49643126	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttcttccaaagatcctcGaagaaacagtgataatccat	14	13	5	9	1	1	3	0	1	1	2	5	4	4	3	3	0	1	0	3	0	4	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:49643126G>A	ENST00000262103.3	-	3	372	c.292C>T	c.(292-294)Cga>Tga	p.R98*	EFCAB1_ENST00000523092.1_Nonsense_Mutation_p.R46*|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Nonsense_Mutation_p.R46*	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	98	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AAAGATCCTCGAAGAAACAGT	0.343																																																	0													117	105	109					8																	49643126		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"EF-hand domain containing"	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.292C>T	8.37:g.49643126G>A	ENSP00000262103:p.Arg98*		B4DSB4|E7EVN7	Nonsense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.R98*	ENST00000262103.3	37	c.292	CCDS6145.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.731224|5.731224	0.96856|0.96856	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000522254	.|.	.|.	.|.	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	0.060216|.	0.64402|.	D|.	0.000002|.	.|T	.|0.65344	.|0.2682	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70655	.|-0.4812	.|3	0.02654|.	T|.	1|.	.|.	14.9317|14.9317	0.70919|0.70919	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	46;98;98;46|15	.|.	ENSP00000262103:R98X|.	R|S	-|-	1|2	2|0	EFCAB1|EFCAB1	49805679|49805679	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.598000|6.598000	0.74122|0.74122	2.441000|2.441000	0.82636|0.82636	0.563000|0.563000	0.77884|0.77884	CGA|TCG	EFCAB1	-	pfscan_EF_hand_dom,prints_Recoverin	ENSG00000034239		0.343	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1		0	23	0	G	NM_024593		49643126	-1			no_errors	ENST00000262103	ensembl	human	known	74_37	nonsense	9.52	38	4	SNP	1.000	A	A	49643126	G	A	49643126	4	1	103	1	0	0	0	0	0	1	0	0	4947	1066	37	1	359	1	EFCAB1	8	49643126	Nonsense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	8249175	49643126	96720896	51	28825											
PRDM14	63978	genome.wustl.edu	37	chr8	70964528	70964528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcggagtatgctggaGgctgtgaacctctgcagaga	8	10	16	7	1	1	2	0	1	1	1	1	5	1	4	1	3	4	4	1	3	2	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:70964528G>A	ENST00000276594.2	-	8	1701	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	500					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTATGCTGGAGGCTGTGAACC	0.468																																					NSCLC(129;99 1813 5906 40656 46114)												0													98	93	95					8																	70964528		2203	4300	6503	SO:0001819	synonymous_variant	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"Zinc fingers, C2H2-type"	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1500C>T	8.37:g.70964528G>A			Q86UX9	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A500	ENST00000276594.2	37	c.1500	CCDS6206.1	8																																																																																			PRDM14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147596		0.468	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	-	0	74	0	G			70964528	-1	tier1	-	no_errors	ENST00000276594	ensembl	human	known	74_37	silent	24.03	117	37	SNP	1.000	A	A	70964528	G	A	70964528	2	1	103	1	0	0	0	0	0	0	0	1	12497	987	35	3		3	PRDM14	8	70964528	Silent	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	21321402	70964528	75399494	52	28826											
NBN	4683	genome.wustl.edu	37	chr8	90993677	90993677	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggaaaagccattctgcatTttttcctcattaacaaaggt	12	13	7	9	1	2	0	1	0	1	0	3	1	3	1	2	2	3	1	2	2	4	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:90993677T>A	ENST00000265433.3	-	3	400	c.246A>T	c.(244-246)aaA>aaT	p.K82N	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	82	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CATTCTGCATTTTTTCCTCAT	0.313								Homologous recombination																																									0													97	110	105					8																	90993677		2203	4300	6503	SO:0001583	missense	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"Nijmegen breakage syndrome 1 (nibrin)"	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.246A>T	8.37:g.90993677T>A	ENSP00000265433:p.Lys82Asn		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.K82N	ENST00000265433.3	37	c.246	CCDS6249.1	8	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001610	0.74818	.	.	ENSG00000104320	ENST00000265433;ENST00000452387;ENST00000519426	D;D	0.88124	-2.34;-2.34	5.82	4.67	0.58626	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.155915	0.56097	D	0.000036	D	0.91998	0.7465	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.91485	0.5207	10	0.87932	D	0	-31.7627	8.0839	0.30760	0.0:0.2152:0.0:0.7848	.	82;82	A6H8Y5;O60934	.;NBN_HUMAN	N	82	ENSP00000265433:K82N;ENSP00000430983:K82N	ENSP00000265433:K82N	K	-	3	2	NBN	91062853	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.440000	0.35024	1.034000	0.39945	0.383000	0.25322	AAA	NBN	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	ENSG00000104320		0.313	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3	-	0	61	0	T	NM_001024688		90993677	-1	tier1	-	no_errors	ENST00000265433	ensembl	human	known	74_37	missense	30.36	78	34	SNP	1.000	A	A	90993677	T	A	90993677	3	1	103	1	0	0	0	0	1	0	0	0	10229	1838	64	5	2074	5	NBN	8	90993677	Missense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	20029149	90993677	55370345	53	28827											
SLC26A7	115111	genome.wustl.edu	37	chr8	92307786	92307786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccttgacatccttaatatCagccaacgccgtggaacgga	11	9	9	12	3	1	1	1	1	0	0	2	3	2	3	4	2	4	0	4	2	4	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:92307786C>T	ENST00000276609.3	+	4	571	c.332C>T	c.(331-333)tCa>tTa	p.S111L	SLC26A7_ENST00000523719.1_Missense_Mutation_p.S111L|SLC26A7_ENST00000309536.2_Missense_Mutation_p.S111L	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTTAATATCAGCCAACGCC	0.438																																																	0													130	113	119					8																	92307786		2203	4300	6503	SO:0001583	missense	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"Solute carriers"	14467	protein-coding gene	gene with protein product		608479	"solute carrier family 26, member 7"			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.332C>T	8.37:g.92307786C>T	ENSP00000276609:p.Ser111Leu			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S111L	ENST00000276609.3	37	c.332	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421471	0.83559	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000006	D	0.86552	0.5960	N	0.02296	-0.605	0.44000	D	0.996704	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.88206	0.2887	10	0.30078	T	0.28	.	18.3916	0.90485	0.0:1.0:0.0:0.0	.	111;111	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	L	111	ENSP00000428881:S111L;ENSP00000428849:S111L;ENSP00000276609:S111L;ENSP00000309504:S111L	ENSP00000276609:S111L	S	+	2	0	SLC26A7	92376962	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.759000	0.62227	2.644000	0.89710	0.655000	0.94253	TCA	SLC26A7	-	NULL	ENSG00000147606		0.438	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377011.1	-	0	46	0	C			92307786	1	tier1	-	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	13.46	90	14	SNP	1.000	T	T	92307786	C	T	92307786	3	4	103	1	0	0	0	0	1	0	0	0	14567	838	29	3	342	3	SLC26A7	8	92307786	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	1314109	92307786	54056236	54	28828											
CSMD3	114788	genome.wustl.edu	37	chr8	113267492	113267492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaatattacctatgcagtGaggtgatgaaccactccaag	14	11	8	8	0	0	3	0	3	0	0	1	3	1	3	3	1	3	1	3	1	6	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr8:113267492G>A	ENST00000297405.5	-	62	10271	c.10027C>T	c.(10027-10029)Cac>Tac	p.H3343Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H3303Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3273Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H3174Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3343	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTATGCAGTGAGGTGATGAA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													115	107	110					8																	113267492		2203	4299	6502	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10027C>T	8.37:g.113267492G>A	ENSP00000297405:p.His3343Tyr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.H3343Y	ENST00000297405.5	37	c.10027	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143297	0.37825	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.2	4.32	0.51571	Complement control module (2);Sushi/SCR/CCP (3);	0.079821	0.50627	D	0.000107	T	0.43919	0.1269	N	0.13299	0.325	0.43824	D	0.996392	P;B;B	0.35468	0.503;0.218;0.059	B;B;B	0.32677	0.118;0.121;0.15	T	0.36744	-0.9735	10	0.25751	T	0.34	.	15.3563	0.74428	0.0:0.0:0.8596:0.1404	.	3174;3343;3303	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	3303;3343;2613;3174;3273	ENSP00000345799:H3303Y;ENSP00000297405:H3343Y;ENSP00000341558:H2613Y;ENSP00000412263:H3174Y;ENSP00000343124:H3273Y	ENSP00000297405:H3343Y	H	-	1	0	CSMD3	113336668	1.000000	0.71417	1.000000	0.80357	0.223000	0.24884	6.251000	0.72441	1.419000	0.47118	-0.169000	0.13324	CAC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	50	0	G	NM_052900		113267492	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	21.43	55	15	SNP	1.000	A	A	113267492	G	A	113267492	3	1	103	1	0	0	0	0	1	0	0	0	3955	1290	45	3	1136	3	CSMD3	8	113267492	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	20959706	113267492	33096530	55	28829											
VCP	7415	genome.wustl.edu	37	chr9	35059557	35059557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacttctcatcaggaagtGggatgtagatgagctgatca	11	10	14	6	0	3	3	3	2	1	1	4	6	3	6	0	3	1	2	0	3	2	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr9:35059557G>T	ENST00000358901.6	-	14	2832	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	646					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)	p.P646Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATCAGGAAGTGGGATGTAGAT	0.522																																																	2	Substitution - Missense(2)	lung(2)											150	120	130					9																	35059557		2203	4300	6503	SO:0001583	missense	0			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"ATPases / AAA-type"	12666	protein-coding gene	gene with protein product		601023	"valosin-containing protein"			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1937C>A	9.37:g.35059557G>T	ENSP00000351777:p.Pro646Gln		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	p.P646Q	ENST00000358901.6	37	c.1937	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.454723	0.96223	.	.	ENSG00000165280	ENST00000358901	D	0.95238	-3.65	6.07	6.07	0.98685	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97868	1.0284	10	0.66056	D	0.02	-26.4201	20.6439	0.99570	0.0:0.0:1.0:0.0	.	646	P55072	TERA_HUMAN	Q	646	ENSP00000351777:P646Q	ENSP00000351777:P646Q	P	-	2	0	VCP	35049557	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCA	VCP	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48	ENSG00000165280		0.522	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1		0	40	0	G	NM_007126		35059557	-1			no_errors	ENST00000358901	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	T	T	35059557	G	T	35059557	3	4	103	1	0	0	0	0	1	0	0	0	17189	1348	47	3	499	3	VCP	9	35059557	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		35059557	106153874	56	28830											
UNC13B	10497	genome.wustl.edu	37	chr9	35396854	35396854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtttgagcagttcGtgctacaatggctggatgag	8	11	16	6	1	0	2	0	2	0	0	1	3	0	3	0	4	3	6	0	4	2	3	rs140663072		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr9:35396854G>A	ENST00000378495.3	+	27	3427	c.3205G>A	c.(3205-3207)Gtg>Atg	p.V1069M	UNC13B_ENST00000396787.1_Missense_Mutation_p.V1081M|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1069M	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1069	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCAGTTCGTGCTACAATG	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		20903	0		0	False		,,,				2504	0																0								G	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	233	215	221		3205	5.6	1	9	dbSNP_134	221	0,8600		0,0,4300	no	missense	UNC13B	NM_006377.3	21	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1069/1592	35396854	2,13004	2203	4300	6503	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3205G>A	9.37:g.35396854G>A	ENSP00000367756:p.Val1069Met		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V1069M	ENST00000378495.3	37	c.3205	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935300	0.92458	4.54E-4	0.0	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.89939	-2.46;-2.41;-2.59	5.57	5.57	0.84162	Munc13 homology 1 (1);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.935	D	0.94869	0.8028	10	0.87932	D	0	-16.8819	19.5625	0.95378	0.0:0.0:1.0:0.0	.	1069;1069	F8W8M9;O14795	.;UN13B_HUMAN	M	1081;1069;1069;656	ENSP00000380006:V1081M;ENSP00000367756:V1069M;ENSP00000367757:V1069M	ENSP00000367756:V1069M	V	+	1	0	UNC13B	35386854	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.760000	0.98935	2.620000	0.88729	0.563000	0.77884	GTG	UNC13B	-	NULL	ENSG00000198722		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	-	0	55	0	G	NM_006377		35396854	1	tier1	rs140663072	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	20.51	93	24	SNP	1.000	A	A	35396854	G	A	35396854	3	1	103	1	0	0	0	0	1	0	0	0	17034	1145	40	1	3311	1	UNC13B	9	35396854	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	337297	35396854	105816577	57	28831											
FAM69B	138311	genome.wustl.edu	37	chr9	139618184	139618184	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctcagccacctcaaGactctgctctggaagaagat	10	9	10	12	0	4	3	2	0	2	3	4	4	4	4	2	2	3	2	2	2	3	0			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr9:139618184G>T	ENST00000371692.4	+	5	1350	c.1254G>T	c.(1252-1254)aaG>aaT	p.K418N	SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_Missense_Mutation_p.K331N|SNHG7_ENST00000362567.2_RNA|SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000447221.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	418						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		GCCACCTCAAGACTCTGCTCT	0.642																																																	0													14	14	14					9																	139618184		2037	3958	5995	SO:0001583	missense	0				CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.1254G>T	9.37:g.139618184G>T	ENSP00000360757:p.Lys418Asn		Q5VUD7|Q8N5N0|Q8WYU5	Missense_Mutation	SNP	pfam_FAM69_kinase_dom	p.K418N	ENST00000371692.4	37	c.1254	CCDS7004.1	9	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721655	0.48728	.	.	ENSG00000165716	ENST00000371692;ENST00000371691	T;T	0.56444	0.46;0.46	5.04	4.14	0.48551	.	0.044633	0.85682	D	0.000000	T	0.48892	0.1525	L	0.61218	1.895	0.58432	D	0.999992	B	0.30664	0.289	B	0.26517	0.07	T	0.52548	-0.8561	10	0.72032	D	0.01	-41.3071	12.1827	0.54221	0.0831:0.0:0.9169:0.0	.	418	Q5VUD6	FA69B_HUMAN	N	418;331	ENSP00000360757:K418N;ENSP00000360756:K331N	ENSP00000360756:K331N	K	+	3	2	FAM69B	138738005	1.000000	0.71417	0.945000	0.38365	0.977000	0.68977	2.191000	0.42640	1.117000	0.41842	0.462000	0.41574	AAG	FAM69B	-	NULL	ENSG00000165716		0.642	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69B	HGNC	protein_coding	OTTHUMT00000055102.1	-	0	55	0	G	NM_152421		139618184	1	tier1	-	no_errors	ENST00000371692	ensembl	human	known	74_37	missense	10.64	84	10	SNP	1.000	T	T	139618184	G	T	139618184	3	4	103	1	0	0	0	0	1	0	0	0	5625	933	33	3	1272	3	FAM69B	9	139618184	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	104221330	139618184	1595247	58	28832											
CTNNA3	29119	genome.wustl.edu	37	chr10	67680368	67680368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggatcagggatgtgacaCtgtccaactgtagggaaaaa	13	9	12	7	0	1	1	1	1	0	0	2	4	2	4	1	3	1	1	1	3	4	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr10:67680368C>T	ENST00000433211.2	-	18	2582	c.2408G>A	c.(2407-2409)aGt>aAt	p.S803N	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.S803N	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGATGTGACACTGTCCAACTG	0.438																																																	0													74	68	70					10																	67680368		2203	4300	6503	SO:0001583	missense	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2408G>A	10.37:g.67680368C>T	ENSP00000389714:p.Ser803Asn			Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S803N	ENST00000433211.2	37	c.2408	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909310	0.72868	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.45276	0.9;0.9;0.9	5.87	5.87	0.94306	.	0.165679	0.43260	D	0.000587	T	0.71854	0.3389	M	0.90369	3.11	0.80722	D	1	D	0.62365	0.991	D	0.76575	0.988	T	0.75783	-0.3196	10	0.56958	D	0.05	-19.8677	17.7754	0.88505	0.0:1.0:0.0:0.0	.	803	Q9UI47	CTNA3_HUMAN	N	803;803;142	ENSP00000389714:S803N;ENSP00000362849:S803N;ENSP00000362840:S142N	ENSP00000362840:S142N	S	-	2	0	CTNNA3	67350374	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.815000	0.86186	2.800000	0.96347	0.644000	0.83932	AGT	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000183230		0.438	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	-	0	53	0	C	NM_013266		67680368	-1	tier1	-	no_errors	ENST00000373744	ensembl	human	known	74_37	missense	15.79	48	9	SNP	1.000	T	T	67680368	C	T	67680368	3	4	103	1	0	0	0	0	1	0	0	0	4023	565	20	3	283	3	CTNNA3	10	67680368	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09		67680368	67854379	59	28833											
MXI1	4601	genome.wustl.edu	37	chr10	112038963	112038963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcatctgcgcctttgtttaGaacgcttaaaagttctgatt	9	16	7	9	2	3	2	1	1	2	1	3	2	3	2	1	0	2	3	1	0	4	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr10:112038963G>A	ENST00000239007.7	+	4	480	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	MXI1_ENST00000361248.4_Missense_Mutation_p.E42K|MXI1_ENST00000332674.5_Missense_Mutation_p.E155K|MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000393134.1_Missense_Mutation_p.E78K|MXI1_ENST00000369612.1_Missense_Mutation_p.E52K	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	88	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CCTTTGTTTAGAACGCTTAAA	0.393																																																	0													141	131	134					10																	112038963		2203	4300	6503	SO:0001583	missense	0			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	7534	protein-coding gene	gene with protein product		600020	"MAX interacting protein 1", "MAX interactor 1"			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.262G>A	10.37:g.112038963G>A	ENSP00000239007:p.Glu88Lys		B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E155K	ENST00000239007.7	37	c.463	CCDS7564.2	10	.	.	.	.	.	.	.	.	.	.	G	34	5.389299	0.95988	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000442296;ENST00000369612	D;D;D;D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73;-4.73;-4.73;-4.73	5.65	5.65	0.86999	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99007	0.9661	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.998	D;D;D;D	0.83275	0.992;0.991;0.996;0.994	D	0.99589	1.0975	10	0.87932	D	0	-22.6379	19.7215	0.96144	0.0:0.0:1.0:0.0	.	78;52;88;155	B1ANN8;P50539-2;P50539;P50539-3	.;.;MXI1_HUMAN;.	K	155;145;42;88;78;78;52;52;52;52	ENSP00000331152:E155K;ENSP00000398981:E145K;ENSP00000354606:E42K;ENSP00000239007:E88K;ENSP00000376842:E78K;ENSP00000407711:E52K;ENSP00000358625:E52K	ENSP00000239007:E88K	E	+	1	0	MXI1	112028953	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.828000	0.99408	2.672000	0.90937	0.591000	0.81541	GAA	MXI1	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000119950		0.393	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1	-	0	86	0	G	NM_130439		112038963	1	tier1	-	no_errors	ENST00000332674	ensembl	human	known	74_37	missense	20.00	68	17	SNP	1.000	A	A	112038963	G	A	112038963	3	1	103	1	0	0	0	0	1	0	0	0	10040	943	33	3	554	3	MXI1	10	112038963	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	44358595	112038963	23495784	60	28834											
MUC5B	727897	genome.wustl.edu	37	chr11	1271669	1271669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccaccacacccacagctaCcagctttacagccatcccct	11	6	4	20	0	0	0	0	0	0	0	1	0	1	0	7	0	6	2	7	0	2	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:1271669C>A	ENST00000529681.1	+	31	13617	c.13559C>A	c.(13558-13560)aCc>aAc	p.T4520N	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4523N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4520	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCACAGCTACCAGCTTTACA	0.627																																																	0													82	121	108					11																	1271669		2124	4211	6335	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13559C>A	11.37:g.1271669C>A	ENSP00000436812:p.Thr4520Asn		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4523N	ENST00000529681.1	37	c.13568	CCDS44515.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	3.414|3.414	-0.119587|-0.119587	0.06838|0.06838	.|.	.|.	ENSG00000117983|ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844|ENST00000535652	T;T|.	0.19394|.	2.15;2.34|.	2.12|2.12	1.16|1.16	0.20824|0.20824	.|.	.|.	.|.	.|.	.|.	T|.	0.42585|.	0.1209|.	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	P;P|.	0.48407|.	0.91;0.91|.	B;P|.	0.47786|.	0.334;0.557|.	T|.	0.40664|.	-0.9551|.	9|.	0.87932|0.87932	D|D	0|0	.|.	4.84|4.84	0.13485|0.13485	0.0:0.6478:0.0:0.3522|0.0:0.6478:0.0:0.3522	.|.	4993;4523|.	A7Y9J9;E9PBJ0|.	.;.|.	N|X	4520;4523;4464;4370|298	ENSP00000436812:T4520N;ENSP00000415793:T4523N|.	ENSP00000343037:T4464N|ENSP00000439776:Y298X	T|Y	+|+	2|3	0|2	MUC5B|MUC5B	1228245|1228245	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.038000|0.038000	0.13279|0.13279	0.040000|0.040000	0.13905|0.13905	0.202000|0.202000	0.20498|0.20498	0.184000|0.184000	0.17185|0.17185	ACC|TAC	MUC5B	-	NULL	ENSG00000117983		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0	129	0	C	XM_001126093		1271669	1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	31.72	99	46	SNP	0.003	A	A	1271669	C	A	1271669	3	1	103	1	0	0	0	0	1	0	0	0	10017	507	18	3	13690	3	MUC5B	11	1271669	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09		1271669	133734847	61	28835											
C11orf9	745	genome.wustl.edu	37	chr11	61537890	61537893	+	Frame_Shift_Del	DEL	CCCG	CCCG	-																															ctgtacatgaaggccgagccCccgatcccccactacgctgc																										TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	CCCG	CCCG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:61537890_61537893delCCCG	ENST00000278836.5	+	5	729_732	c.633_636delCCCG	c.(631-636)cccccgfs	p.PP211fs	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.PP202fs	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	211	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGCCGAGCCCCCGATCCCCCACT	0.686																																																	0																																										SO:0001589	frameshift_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.633_636delCCCG	11.37:g.61537890_61537893delCCCG	ENSP00000278836:p.Pro211fs		O43582|Q9P1Q6	Frame_Shift_Del	DEL	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.P212fs	ENST00000278836.5	37	c.633_636	CCDS44622.1	11																																																																																			MYRF	-	NULL	ENSG00000124920		0.686	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2		0	39	0	CCCG	NM_013279		61537893	1	tier1		no_errors	ENST00000278836	ensembl	human	known	74_37	frame_shift_del	30.00	28	12	DEL	0.999:0.999:0.988:0.044	-	-	61537893	CCCG	-	61537890	7	5	103	1	0	1	0	1	0	0	0	0	1676	610	22	0	674	0	C11orf9	11	61537890	Frame_Shift_Del	DEL	CCCG	TCGA-LN-A49P-01A-11D-A247-09	60266221	61537890	73468626	62	28836			1	27		2	2	23	N	CCCG_A	6.609007e-05
C11orf9	745	genome.wustl.edu	37	chr11	61537912	61537912	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcccccactacgctgccAtggggcaggggctggtgccc	5	6	14	16	2	0	0	0	0	0	0	1	1	1	0	4	5	3	3	4	5	1	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:61537912A>T	ENST00000278836.5	+	5	751	c.655A>T	c.(655-657)Atg>Ttg	p.M219L	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.M210L	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	219	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTACGCTGCCATGGGGCAGGG	0.672																																																	0													12	12	12					11																	61537912		2180	4267	6447	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"myelin gene regulatory factor"	608329	"chromosome 11 open reading frame 9"	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.655A>T	11.37:g.61537912A>T	ENSP00000278836:p.Met219Leu		O43582|Q9P1Q6	Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.M219L	ENST00000278836.5	37	c.655	CCDS44622.1	11	.	.	.	.	.	.	.	.	.	.	A	4.832	0.154687	0.09236	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.27557	1.66;1.67	4.35	3.19	0.36642	.	0.169112	0.50627	D	0.000101	T	0.12008	0.0292	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10177	-1.0641	10	0.10636	T	0.68	-24.181	5.4744	0.16688	0.6938:0.1462:0.16:0.0	.	210;219	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	L	219;210	ENSP00000278836:M219L;ENSP00000265460:M210L	ENSP00000265460:M210L	M	+	1	0	C11orf9	61294488	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.363000	0.44178	0.803000	0.34113	0.402000	0.26972	ATG	MYRF	-	NULL	ENSG00000124920		0.672	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2	-	0	56	0	A	NM_013279		61537912	1	tier1	-	no_errors	ENST00000278836	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	T	T	61537912	A	T	61537912	3	4	103	1	0	0	0	0	1	0	0	0	1676	217	8	5	696	5	C11orf9	11	61537912	Missense_Mutation	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	22	61537912	73468604	63	28837			1	27		2	2	23	N	CCCG_A	6.609007e-05
AHNAK	79026	genome.wustl.edu	37	chr11	62300523	62300523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacagtcacttcacctgtagGcagtgtcacatcaatcccag	12	9	7	13	0	4	0	4	0	0	0	5	0	5	0	2	1	1	2	2	1	3	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:62300523G>A	ENST00000378024.4	-	5	1640	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	456					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACCTGTAGGCAGTGTCACA	0.512																																																	0													118	122	121					11																	62300523		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1366C>T	11.37:g.62300523G>A	ENSP00000367263:p.Pro456Ser		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P456S	ENST00000378024.4	37	c.1366	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	G	9.679	1.148793	0.21288	.	.	ENSG00000124942	ENST00000378024	T	0.02944	4.1	5.36	4.42	0.53409	.	0.000000	0.39475	N	0.001346	T	0.18467	0.0443	M	0.89353	3.025	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.07385	-1.0775	10	0.51188	T	0.08	-1.2872	14.8443	0.70249	0.0:0.1451:0.8549:0.0	.	456	Q09666	AHNK_HUMAN	S	456	ENSP00000367263:P456S	ENSP00000367263:P456S	P	-	1	0	AHNAK	62057099	0.001000	0.12720	0.193000	0.23327	0.329000	0.28539	0.708000	0.25719	1.211000	0.43351	0.555000	0.69702	CCT	AHNAK	-	NULL	ENSG00000124942		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	25	0	G	NM_024060		62300523	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	72.22	10	26	SNP	0.023	A	A	62300523	G	A	62300523	3	1	103	1	0	0	0	0	1	0	0	0	414	1203	42	3	16426	3	AHNAK	11	62300523	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	762611	62300523	72705993	64	28838											
SIK2	23235	genome.wustl.edu	37	chr11	111491117	111491117	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatatgccaaaaatggaGaaatttttggtaagcttttt	15	14	8	4	0	0	2	0	0	0	2	0	3	0	2	1	2	2	2	1	2	6	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:111491117G>T	ENST00000304987.3	+	3	480	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E103*(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CAAAAATGGAGAAATTTTTGG	0.284																																																	1	Substitution - Nonsense(1)	large_intestine(1)											72	78	76					11																	111491117		2201	4291	6492	SO:0001587	stop_gained	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"SNF1-like kinase 2"	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.307G>T	11.37:g.111491117G>T	ENSP00000305976:p.Glu103*		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E103*	ENST00000304987.3	37	c.307	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.812793	0.97857	.	.	ENSG00000170145	ENST00000304987	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.1569	0.89694	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000305976:E103X	E	+	1	0	SIK2	110996327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.567000	0.90737	2.575000	0.86900	0.650000	0.86243	GAA	SIK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000170145		0.284	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3		0	14	0	G	NM_015191		111491117	1			no_errors	ENST00000304987	ensembl	human	known	74_37	nonsense	10.00	18	2	SNP	1.000	T	T	111491117	G	T	111491117	4	4	103	1	0	0	0	0	0	1	0	0	14363	943	33	3	317	3	SIK2	11	111491117	Nonsense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	49190594	111491117	23515399	65	28839											
KIRREL3	84623	genome.wustl.edu	37	chr11	126306730	126306730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttgagccggatgatctCagtgtcggagccgaagctgt	7	10	13	11	3	1	2	1	2	1	0	4	5	2	4	3	2	3	1	3	2	1	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr11:126306730C>T	ENST00000525144.2	-	12	1777	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	KIRREL3_ENST00000525704.2_Missense_Mutation_p.E510K|KIRREL3_ENST00000529097.2_Missense_Mutation_p.E510K|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	510	Ig-like C2-type 5.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CGGATGATCTCAGTGTCGGAG	0.612																																																	0													106	112	110					11																	126306730		2192	4296	6488	SO:0001583	missense	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1528G>A	11.37:g.126306730C>T	ENSP00000435466:p.Glu510Lys		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E510K	ENST00000525144.2	37	c.1528	CCDS53723.1	11	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009821	0.35415	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.65178	-0.14;-0.14;-0.14	4.29	3.37	0.38596	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.067839	0.64402	N	0.000018	T	0.44265	0.1285	N	0.13140	0.3	0.80722	D	1	B;B;B	0.10296	0.003;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.004	T	0.33369	-0.9871	10	0.54805	T	0.06	-15.6675	11.5571	0.50755	0.0:0.9104:0.0:0.0896	.	510;510;510	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	K	510	ENSP00000435466:E510K;ENSP00000434081:E510K;ENSP00000435094:E510K	ENSP00000435466:E510K	E	-	1	0	KIRREL3	125811940	1.000000	0.71417	0.746000	0.31095	0.803000	0.45373	7.751000	0.85126	0.793000	0.33875	0.407000	0.27541	GAG	KIRREL3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000149571		0.612	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	-	0	48	0	C	NM_032531		126306730	-1	tier1	-	no_errors	ENST00000525144	ensembl	human	known	74_37	missense	36.47	54	31	SNP	0.997	T	T	126306730	C	T	126306730	3	4	103	1	0	0	0	0	1	0	0	0	8353	835	29	3	939	3	KIRREL3	11	126306730	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	14815613	126306730	8699786	66	28840											
VWF	7450	genome.wustl.edu	37	chr12	6062682	6062682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtgtcatgatctgtcCtcctcttagctgaatggtgc	6	15	9	11	0	4	2	2	2	2	0	6	2	6	2	2	1	2	1	2	1	2	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:6062682C>T	ENST00000261405.5	-	48	8220	c.7966G>A	c.(7966-7968)Gga>Aga	p.G2656R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2656					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATGATCTGTCCTCCTCTTAGC	0.458																																																	0													171	137	149					12																	6062682		2203	4300	6503	SO:0001583	missense	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"Endogenous ligands"	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7966G>A	12.37:g.6062682C>T	ENSP00000261405:p.Gly2656Arg		Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.G2656R	ENST00000261405.5	37	c.7966	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999453	0.35320	.	.	ENSG00000110799	ENST00000261405	T	0.37584	1.19	4.85	4.85	0.62838	.	0.000000	0.35040	N	0.003492	T	0.58864	0.2152	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59182	-0.7502	10	0.49607	T	0.09	.	13.6503	0.62308	0.0:1.0:0.0:0.0	.	2656	P04275	VWF_HUMAN	R	2656	ENSP00000261405:G2656R	ENSP00000261405:G2656R	G	-	1	0	VWF	5932943	0.996000	0.38824	1.000000	0.80357	0.535000	0.34838	3.024000	0.49674	2.679000	0.91253	0.655000	0.94253	GGA	VWF	-	pirsf_VWF	ENSG00000110799		0.458	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	-	0	29	0	C	NM_000552		6062682	-1	tier1	-	no_errors	ENST00000261405	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	T	T	6062682	C	T	6062682	3	4	103	1	0	0	0	0	1	0	0	0	17295	690	24	3	495	3	VWF	12	6062682	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09		6062682	127789213	67	28841											
LPCAT3	10162	genome.wustl.edu	37	chr12	7086639	7086639	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggctggaggacagtaaTggcggccagcttgctcaggg	9	6	18	8	1	1	0	1	0	0	0	1	3	1	2	1	6	2	4	1	6	2	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:7086639T>C	ENST00000261407.4	-	11	1322	c.1237A>G	c.(1237-1239)Att>Gtt	p.I413V	LPCAT3_ENST00000535021.1_5'UTR|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	413					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGGACAGTAATGGCGGCCAGC	0.552																																																	0													56	56	56					12																	7086639		2203	4300	6503	SO:0001583	missense	0			U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"O-acyltransferase (membrane bound) domain containing 5", "membrane bound O-acyltransferase domain containing 5"	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970	ENST00000261407.4:c.1237A>G	12.37:g.7086639T>C	ENSP00000261407:p.Ile413Val		B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	Missense_Mutation	SNP	pfam_MBOAT_fam	p.I413V	ENST00000261407.4	37	c.1237	CCDS8572.1	12	.	.	.	.	.	.	.	.	.	.	T	2.361	-0.346500	0.05208	.	.	ENSG00000111684	ENST00000261407	T	0.72615	-0.67	4.77	1.09	0.20402	.	0.425372	0.25475	N	0.030403	T	0.58878	0.2153	L	0.54323	1.7	0.37431	D	0.914027	B	0.02656	0.0	B	0.06405	0.002	T	0.49908	-0.8889	10	0.15952	T	0.53	-16.9088	8.7421	0.34564	0.0:0.2146:0.0:0.7854	.	413	Q6P1A2	MBOA5_HUMAN	V	413	ENSP00000261407:I413V	ENSP00000261407:I413V	I	-	1	0	LPCAT3	6956900	1.000000	0.71417	0.277000	0.24703	0.269000	0.26545	1.336000	0.33850	0.035000	0.15519	0.459000	0.35465	ATT	LPCAT3	-	pfam_MBOAT_fam	ENSG00000111684		0.552	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT3	HGNC	protein_coding	OTTHUMT00000401812.1	-	0	40	0	T	NM_005768		7086639	-1	tier1	-	no_errors	ENST00000261407	ensembl	human	known	74_37	missense	26.79	41	15	SNP	0.957	C	C	7086639	T	C	7086639	3	2	103	1	0	0	0	0	1	0	0	0	8947	1464	51	4	234	4	LPCAT3	12	7086639	Missense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	1023957	7086639	126765256	68	28842											
PRB2	653247	genome.wustl.edu	37	chr12	11546795	11546795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggctttcctggaggagGtgggggaccttgaggctggt	4	12	19	6	0	0	1	0	1	0	0	1	4	1	4	2	8	0	2	2	8	0	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr12:11546795G>A	ENST00000389362.4	-	3	252	c.217C>T	c.(217-219)Cct>Tct	p.P73S	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	73	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTGGAGGAGGTGGGGGACCT	0.607																																																	0													125	143	137					12																	11546795		2161	4241	6402	SO:0001583	missense	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.217C>T	12.37:g.11546795G>A	ENSP00000374013:p.Pro73Ser		O00599|P02811|P04281	Missense_Mutation	SNP	NULL	p.P73S	ENST00000389362.4	37	c.217	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	1.997	-0.430328	0.04669	.	.	ENSG00000121335	ENST00000389362	T	0.05925	3.37	1.03	-0.17	0.13335	.	0.000000	0.35646	U	0.003069	T	0.04861	0.0131	M	0.67625	2.065	0.09310	N	1	P	0.50710	0.938	B	0.37943	0.261	T	0.38950	-0.9637	10	0.18276	T	0.48	.	2.3807	0.04353	0.2459:0.338:0.416:0.0	.	73	P02812	PRB2_HUMAN	S	73	ENSP00000374013:P73S	ENSP00000374013:P73S	P	-	1	0	PRB2	11438062	0.003000	0.15002	0.003000	0.11579	0.067000	0.16453	-1.111000	0.03303	-0.045000	0.13468	0.418000	0.28097	CCT	PRB2	-	NULL	ENSG00000121335		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2		0	87	0	G	NM_006248		11546795	-1			no_errors	ENST00000389362	ensembl	human	known	74_37	missense	11.32	47	6	SNP	0.003	A	A	11546795	G	A	11546795	3	1	103	1	0	0	0	0	1	0	0	0	12485	1261	44	3	1037	3	PRB2	12	11546795	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	4460156	11546795	122305100	69	28843											
ENOX1	55068	genome.wustl.edu	37	chr13	43986175	43986175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgtctatcgctatactccCcaaaccatcggctgctgtgg	7	11	9	14	3	1	0	0	0	1	0	4	0	2	0	3	2	3	3	3	2	4	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr13:43986175C>T	ENST00000261488.6	-	5	662	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	ENOX1_ENST00000412891.1_Missense_Mutation_p.G29R	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	29					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTATACTCCCCAAACCATCG	0.478																																																	0													114	102	106					13																	43986175		2203	4300	6503	SO:0001583	missense	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"RNA binding motif (RRM) containing"	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.85G>A	13.37:g.43986175C>T	ENSP00000261488:p.Gly29Arg		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G29R	ENST00000261488.6	37	c.85	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897288	0.33535	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.42513	0.97;0.97	5.62	5.62	0.85841	.	0.058966	0.64402	D	0.000003	T	0.41880	0.1178	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	P	0.56343	0.796	T	0.08953	-1.0697	10	0.02654	T	1	0.6306	19.0063	0.92852	0.0:1.0:0.0:0.0	.	29	Q8TC92	ENOX1_HUMAN	R	29	ENSP00000261488:G29R;ENSP00000415054:G29R	ENSP00000261488:G29R	G	-	1	0	ENOX1	42884175	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.259000	0.51515	2.809000	0.96659	0.467000	0.42956	GGG	ENOX1	-	NULL	ENSG00000120658		0.478	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	-	0	70	0	C	NM_017993		43986175	-1	tier1	-	no_errors	ENST00000261488	ensembl	human	known	74_37	missense	16.84	79	16	SNP	1.000	T	T	43986175	C	T	43986175	3	4	103	1	0	0	0	0	1	0	0	0	5142	623	22	3	1898	3	ENOX1	13	43986175	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09		43986175	71183703	70	28844											
MDGA2	161357	genome.wustl.edu	37	chr14	47342646	47342646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatctcacctatatgttgTccatacatgtgataaaagaa	14	13	6	8	0	1	2	1	1	1	1	3	2	2	2	2	0	1	2	2	0	7	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:47342646T>C	ENST00000399232.2	-	14	2899	c.2535A>G	c.(2533-2535)ggA>ggG	p.G845G	MDGA2_ENST00000357362.3_Silent_p.G616G|MDGA2_ENST00000439988.3_Silent_p.G914G|MDGA2_ENST00000426342.1_Silent_p.G616G|MDGA2_ENST00000399222.3_Silent_p.G47G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	845	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTATATGTTGTCCATACATGT	0.348																																																	0													112	107	108					14																	47342646		1839	4082	5921	SO:0001819	synonymous_variant	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19835	protein-coding gene	gene with protein product		611128	"MAM domain containing 1"	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2535A>G	14.37:g.47342646T>C			F6W3S7|J3KPX6	Silent	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.G914	ENST00000399232.2	37	c.2742		14																																																																																			MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000272781		0.348	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0	70	0	T	NM_182830		47342646	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	silent	17.35	81	17	SNP	1.000	C	C	47342646	T	C	47342646	2	2	103	1	0	0	0	0	0	0	0	1	9445	1654	58	4		4	MDGA2	14	47342646	Silent	SNP	T	TCGA-LN-A49P-01A-11D-A247-09		47342646	60006894	71	28845											
PELI2	57161	genome.wustl.edu	37	chr14	56645145	56645145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaatggtgtcaaacccaGcaccgtccatgtgatatcca	12	8	9	12	1	1	1	1	1	0	0	3	1	3	1	4	2	2	2	4	2	3	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:56645145G>T	ENST00000267460.4	+	2	456	c.170G>T	c.(169-171)aGc>aTc	p.S57I		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	57	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GTCAAACCCAGCACCGTCCAT	0.517																																																	0													119	109	113					14																	56645145		2203	4300	6503	SO:0001583	missense	0			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"Pellino homologs"	8828	protein-coding gene	gene with protein product		614798	"pellino (Drosophila) homolog 2", "pellino homolog 2 (Drosophila)"			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.170G>T	14.37:g.56645145G>T	ENSP00000267460:p.Ser57Ile		B2RDY5	Missense_Mutation	SNP	pfam_Pellino_fam	p.S57I	ENST00000267460.4	37	c.170	CCDS9726.1	14	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401632	0.62288	.	.	ENSG00000139946	ENST00000267460	T	0.51574	0.7	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	M	0.82323	2.585	0.54753	D	0.999981	D	0.53462	0.96	P	0.59424	0.857	T	0.68176	-0.5478	10	0.39692	T	0.17	-41.1626	19.1026	0.93279	0.0:0.0:1.0:0.0	.	57	Q9HAT8	PELI2_HUMAN	I	57	ENSP00000267460:S57I	ENSP00000267460:S57I	S	+	2	0	PELI2	55714898	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	7.749000	0.85096	2.803000	0.96430	0.650000	0.86243	AGC	PELI2	-	pfam_Pellino_fam	ENSG00000139946		0.517	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PELI2	HGNC	protein_coding	OTTHUMT00000276925.1	-	0	110	0	G			56645145	1	tier1	-	no_errors	ENST00000267460	ensembl	human	known	74_37	missense	22.38	111	32	SNP	1.000	T	T	56645145	G	T	56645145	3	4	103	1	0	0	0	0	1	0	0	0	11761	971	34	3	176	3	PELI2	14	56645145	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	9302499	56645145	50704395	72	28846											
PSMA3	5684	genome.wustl.edu	37	chr14	58738592	58738592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctgaaggaagaagatgaAtcagatgatgataatatgta	17	11	10	3	0	2	7	1	4	1	3	3	8	2	8	0	1	0	1	0	1	7	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:58738592A>G	ENST00000216455.4	+	11	837	c.747A>G	c.(745-747)gaA>gaG	p.E249E	RP11-349A22.5_ENST00000556400.1_RNA|CTD-2002H8.2_ENST00000557322.1_RNA|RP11-349A22.5_ENST00000555162.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000557660.1_RNA|RP11-349A22.5_ENST00000556225.1_RNA|RP11-349A22.5_ENST00000553657.1_RNA|PSMA3_ENST00000557508.1_Silent_p.E174E|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|PSMA3_ENST00000412908.2_Silent_p.E242E	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	249					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AAGAAGATGAATCAGATGATG	0.323																																																	0													75	73	74					14																	58738592		2200	4297	6497	SO:0001819	synonymous_variant	0				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"Proteasome (prosome, macropain) subunits"	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.747A>G	14.37:g.58738592A>G			B2RCK6|Q86U83|Q8N1D8|Q9BS70	Silent	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.E249	ENST00000216455.4	37	c.747	CCDS9731.1	14																																																																																			PSMA3	-	NULL	ENSG00000100567		0.323	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA3	HGNC	protein_coding	OTTHUMT00000276923.1		0	20	0	A	NM_002788		58738592	1			no_errors	ENST00000216455	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	G	G	58738592	A	G	58738592	2	3	103	1	0	0	0	0	0	0	0	1	12710	98	4	4		4	PSMA3	14	58738592	Silent	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	2093447	58738592	48610948	73	28847											
UBR7	55148	genome.wustl.edu	37	chr14	93676302	93676302	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgagctatacacaaaaAggtaaacatagtcaagagat	19	10	7	5	0	1	2	1	1	0	1	1	3	1	2	0	1	3	2	0	1	9	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr14:93676302A>T	ENST00000013070.6	+	2	519	c.283A>T	c.(283-285)Aga>Tga	p.R95*	C14orf142_ENST00000306954.4_5'Flank|RP11-371E8.4_ENST00000557574.1_Splice_Site_p.R114*|RP11-371E8.4_ENST00000557048.1_3'UTR|UBR7_ENST00000416753.1_Intron	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	95							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ATACACAAAAAGGTAAACATA	0.363																																																	0													82	78	80					14																	93676302		2203	4300	6503	SO:0001630	splice_region_variant	0			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"Ubiquitin protein ligase E3 component n-recognins"	20344	protein-coding gene	gene with protein product		613816	"chromosome 14 open reading frame 130"	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.284+1A>T	14.37:g.93676302A>T			Q86U21|Q86UA9|Q96BY0|Q9NVV6	Nonsense_Mutation	SNP	pfam_Znf_N-recognin,superfamily_Znf_FYVE_PHD,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R95*	ENST00000013070.6	37	c.283	CCDS9909.1	14	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	25.0|25.0|25.0	4.590433|4.590433|4.590433	0.86851|0.86851|0.86851	.|.|.	.|.|.	ENSG00000012963|ENSG00000012963|ENSG00000259066;ENSG00000012963;ENSG00000012963	ENST00000555113|ENST00000553857|ENST00000557574;ENST00000013070;ENST00000554232	D|D|.	0.84146|0.83591|.	-1.81|-1.74|.	4.89|4.89|4.89	4.89|4.89|4.89	0.63831|0.63831|0.63831	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.41190|0.41190|.	0.1148|0.1148|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.31420|0.31420|.	-0.9944|-0.9944|.	5|5|.	.|.|0.02654	.|.|T	.|.|1	-15.0504|-15.0504|-15.0504	14.1807|14.1807|14.1807	0.65572|0.65572|0.65572	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	M|N|X	94|20|114;95;95	ENSP00000451051:K94M|ENSP00000451785:K20N|.	.|.|ENSP00000013070:R95X	K|K|R	+|+|+	2|3|1	0|2|2	UBR7|UBR7|RP11-371E8.4;UBR7	92746055|92746055|92746055	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.973000|0.973000|0.973000	0.67179|0.67179|0.67179	6.439000|6.439000|6.439000	0.73430|0.73430|0.73430	1.830000|1.830000|1.830000	0.53286|0.53286|0.53286	0.448000|0.448000|0.448000	0.29417|0.29417|0.29417	AAG|AAA|AGA	UBR7	-	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	ENSG00000012963		0.363	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR7	HGNC	protein_coding	OTTHUMT00000412693.1	-	0	72	0	A	NM_175748	Nonsense_Mutation	93676302	1	tier1	-	no_errors	ENST00000013070	ensembl	human	known	74_37	nonsense	25.49	76	26	SNP	1.000	T	T	93676302	A	T	93676302	5	4	103	1	0	0	0	0	0	0	1	0	16955	86	3	5	289	5	UBR7	14	93676302	Splice_Site	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	34937710	93676302	13673238	74	28848											
TTLL13	440307	genome.wustl.edu	37	chr15	90801306	90801306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatctggctgcaagagcaCagctacaaccctggagagct	13	6	10	12	0	1	2	0	0	1	2	1	3	1	2	1	2	7	5	1	2	4	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr15:90801306C>T	ENST00000339615.5	+	9	1262	c.972C>T	c.(970-972)caC>caT	p.H324H	TTLL13_ENST00000438251.1_Silent_p.H324H|RP11-697E2.6_ENST00000561573.1_Intron	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGCAAGAGCACAGCTACAACC	0.557																																																	0													147	124	132					15																	90801306		2199	4298	6497	SO:0001819	synonymous_variant	0			BC036668		15q26.1	2013-02-14				ENSG00000213471		"Tubulin tyrosine ligase-like family"	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.972C>T	15.37:g.90801306C>T				Silent	SNP	pfam_TTL/TTLL_fam	p.H324	ENST00000339615.5	37	c.972	CCDS32328.1	15																																																																																			TTLL13	-	pfam_TTL/TTLL_fam	ENSG00000213471		0.557	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	-	0	37	0	C	NM_001029964		90801306	1	tier1	-	no_errors	ENST00000438251	ensembl	human	known	74_37	silent	46.67	24	21	SNP	0.967	T	T	90801306	C	T	90801306	2	4	103	1	0	0	0	0	0	0	0	1	16775	477	17	3		3	TTLL13	15	90801306	Silent	SNP	C	TCGA-LN-A49P-01A-11D-A247-09		90801306	11730086	75	28849											
AP1G1	164	genome.wustl.edu	37	chr16	71773198	71773198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaacaagaaggggggctgGgatatctgtgggactgaggc	10	7	17	7	0	1	2	0	1	1	1	2	4	2	4	1	6	1	1	1	6	4	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr16:71773198G>T	ENST00000299980.4	-	20	2487	c.2046C>A	c.(2044-2046)tcC>tcA	p.S682S	AP1G1_ENST00000569748.1_Silent_p.S682S|AP1G1_ENST00000393512.3_Silent_p.S685S|AP1G1_ENST00000433195.2_Silent_p.S705S|AP1G1_ENST00000564155.1_Silent_p.S107S|AP1G1_ENST00000423132.2_Silent_p.S685S	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	682					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGGGGGGCTGGGATATCTGTG	0.478																																																	0													77	78	78					16																	71773198		2198	4300	6498	SO:0001819	synonymous_variant	0			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"gamma1-adaptin"	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2046C>A	16.37:g.71773198G>T			O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.S705	ENST00000299980.4	37	c.2115	CCDS32480.1	16																																																																																			AP1G1	-	pirsf_AP1_complex_gsu	ENSG00000166747		0.478	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G1	HGNC	protein_coding	OTTHUMT00000434147.1		0	24	0	G			71773198	-1			no_errors	ENST00000433195	ensembl	human	known	74_37	silent	8.11	34	3	SNP	1.000	T	T	71773198	G	T	71773198	2	4	103	1	0	0	0	0	0	0	0	1	732	1219	43	3		3	AP1G1	16	71773198	Silent	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		71773198	18581555	76	28850											
OR3A2	4995	genome.wustl.edu	37	chr17	3182035	3182035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaagtacatgggggcGtggagtttgggctccaccaa	11	7	16	7	1	0	1	0	0	0	1	1	3	1	3	2	5	1	3	2	5	4	2	rs529347635	byFrequency	TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:3182035G>A	ENST00000408891.2	-	1	233	c.195C>T	c.(193-195)caC>caT	p.H65H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	65					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						ACATGGGGGCGTGGAGTTTGG	0.552													G|||	4	0.000798722	0	0	5008	,	,		20110	0		0	False		,,,				2504	0.0041				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)												0													4	5	5					17																	3182035		1755	3670	5425	SO:0001819	synonymous_variant	0			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.195C>T	17.37:g.3182035G>A			Q6IFM3|Q9P1Q3	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H65	ENST00000408891.2	37	c.195	CCDS42233.1	17																																																																																			OR3A2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221882		0.552	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	HGNC	protein_coding	OTTHUMT00000438370.1	-	0	17	0	G			3182035	-1	tier1	-	no_errors	ENST00000408891	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.858	A	A	3182035	G	A	3182035	2	1	103	1	0	0	0	0	0	0	0	1	11077	1136	40	1		1	OR3A2	17	3182035	Silent	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		3182035	78013175	77	28851											
TP53	7157	genome.wustl.edu	37	chr17	7577610	7577610	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	15	5	10	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	5	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGAGCCAACCTAGGAGATAAC	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(1)											88	74	79					17																	7577610		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-2A>G	17.37:g.7577610T>C			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6-2	ENST00000269305.4	37	c.673-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.	TP53	-	-	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	69	0	T	NM_000546	Intron	7577610	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	48.08	54	50	SNP	0.999	C	C	7577610	T	C	7577610	5	2	103	1	0	0	0	0	0	0	1	0	16429	1536	53	4	619	4	TP53	17	7577610	Splice_Site	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	4395575	7577610	73617600	78	28852											
AOC2	314	genome.wustl.edu	37	chr17	40997982	40997982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttcaaaatcatttctatGgtggtttggccagctcagcc	9	13	8	11	0	4	0	3	0	1	0	4	0	4	0	3	3	2	2	3	3	3	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:40997982G>T	ENST00000253799.3	+	1	1366	c.1339G>T	c.(1339-1341)Ggt>Tgt	p.G447C	AOC2_ENST00000452774.2_Missense_Mutation_p.G447C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	447					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCATTTCTATGGTGGTTTGGC	0.517																																																	0													123	113	116					17																	40997982		2203	4300	6503	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.1339G>T	17.37:g.40997982G>T	ENSP00000253799:p.Gly447Cys		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.G447C	ENST00000253799.3	37	c.1339	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791513	0.50102	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.04015	3.73;3.73	5.68	5.68	0.88126	Copper amine oxidase, C-terminal (3);	0.120444	0.56097	D	0.000027	T	0.30479	0.0766	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10543	-1.0625	10	0.62326	D	0.03	-24.9105	19.7779	0.96402	0.0:0.0:1.0:0.0	.	447;447	O75106;O75106-2	AOC2_HUMAN;.	C	447	ENSP00000253799:G447C;ENSP00000406134:G447C	ENSP00000253799:G447C	G	+	1	0	AOC2	38251508	1.000000	0.71417	0.926000	0.36857	0.054000	0.15201	6.580000	0.74040	2.671000	0.90904	0.591000	0.81541	GGT	AOC2	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase	ENSG00000131480		0.517	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	-	0	50	0	G	NM_009590, NM_001158		40997982	1	tier1	-	no_errors	ENST00000253799	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T	T	40997982	G	T	40997982	3	4	103	1	0	0	0	0	1	0	0	0	727	1348	47	3	1341	3	AOC2	17	40997982	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	33420372	40997982	40197228	79	28853											
TMEM49	81671	genome.wustl.edu	37	chr17	57889104	57889104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctttttggaccttctttgGtgcaaccctaattggaaaag	10	14	8	9	0	1	0	0	0	1	0	1	2	1	2	3	3	2	1	3	3	4	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr17:57889104G>A	ENST00000262291.4	+	9	1179	c.869G>A	c.(868-870)gGt>gAt	p.G290D	VMP1_ENST00000536180.1_Missense_Mutation_p.G193D|VMP1_ENST00000537567.1_Missense_Mutation_p.G156D|VMP1_ENST00000539763.1_Missense_Mutation_p.G98D|VMP1_ENST00000545362.1_Missense_Mutation_p.G234D	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	290					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ACCTTCTTTGGTGCAACCCTA	0.378																																																	0													176	170	172					17																	57889104		2203	4300	6503	SO:0001583	missense	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"ectopic P-granules autophagy protein 3 homolog (C. elegans)", "transport and golgi organization 5 homolog (Drosophila)"	611753	"transmembrane protein 49"	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.869G>A	17.37:g.57889104G>A	ENSP00000262291:p.Gly290Asp		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	NULL	p.G290D	ENST00000262291.4	37	c.869	CCDS11619.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.329475	0.95733	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	T;T	0.41400	1.0;1.0	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;0.999	T	0.77078	-0.2721	10	0.66056	D	0.02	-7.1261	20.0324	0.97544	0.0:0.0:1.0:0.0	.	156;193;234;290	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	D	290;156;98;193;234	ENSP00000445130:G156D;ENSP00000439959:G98D	ENSP00000262291:G290D	G	+	2	0	VMP1	55243886	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.706000	0.98722	2.832000	0.97577	0.655000	0.94253	GGT	VMP1	-	NULL	ENSG00000062716		0.378	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	-	0	60	0	G	NM_030938		57889104	1	tier1	-	no_errors	ENST00000262291	ensembl	human	known	74_37	missense	16.25	67	13	SNP	1.000	A	A	57889104	G	A	57889104	3	1	103	1	0	0	0	0	1	0	0	0	16220	1261	44	3	899	3	TMEM49	17	57889104	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	16891122	57889104	23306106	80	28854											
LAMA3	3909	genome.wustl.edu	37	chr18	21331028	21331028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcatctccaaagcccaGcgagatccaactgtcactcg	11	7	6	17	2	3	1	2	0	1	1	6	2	4	1	4	0	3	0	4	0	2	0	rs62093354		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr18:21331028G>T	ENST00000313654.9	+	5	1072	c.831G>T	c.(829-831)caG>caT	p.Q277H	LAMA3_ENST00000399516.3_Missense_Mutation_p.Q277H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	277	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCAAAGCCCAGCGAGATCCAA	0.433																																																	0													98	98	98					18																	21331028		1884	4114	5998	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.831G>T	18.37:g.21331028G>T	ENSP00000324532:p.Gln277His		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.Q277H	ENST00000313654.9	37	c.831	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826608	0.71143	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.19250	2.17;2.16	5.41	5.41	0.78517	Laminin, N-terminal (3);	.	.	.	.	T	0.29423	0.0733	L	0.35414	1.06	0.80722	D	1	D;D;P	0.61080	0.989;0.98;0.879	D;P;P	0.63192	0.912;0.88;0.831	T	0.01345	-1.1379	9	0.44086	T	0.13	.	9.264	0.37630	0.1997:0.0:0.8003:0.0	.	277;277;277	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	H	277;277;275;277	ENSP00000324532:Q277H;ENSP00000382432:Q277H	ENSP00000324532:Q277H	Q	+	3	2	LAMA3	19585026	1.000000	0.71417	0.932000	0.37286	0.995000	0.86356	4.335000	0.59298	2.529000	0.85273	0.655000	0.94253	CAG	LAMA3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000053747		0.433	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3		0	58	0	G	NM_000227, NM_198129		21331028	1			no_errors	ENST00000313654	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	21331028	G	T	21331028	3	4	103	1	0	0	0	0	1	0	0	0	8635	962	34	3	849	3	LAMA3	18	21331028	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		21331028	56746220	81	28855											
ZNF441	126068	genome.wustl.edu	37	chr19	11891849	11891849	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaagcctttagtgatttcTattactttcgaaatcatgaa	13	15	7	6	1	2	2	1	2	1	0	3	4	2	3	1	1	2	0	1	1	6	6			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:11891849T>G	ENST00000357901.4	+	4	1312	c.1210T>G	c.(1210-1212)Tat>Gat	p.Y404D	ZNF441_ENST00000454339.2_Missense_Mutation_p.Y337D	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	404					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGTGATTTCTATTACTTTCG	0.373																																																	0													46	48	47					19																	11891849		2203	4300	6503	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"Zinc fingers, C2H2-type", "-"	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1210T>G	19.37:g.11891849T>G	ENSP00000350576:p.Tyr404Asp			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y404D	ENST00000357901.4	37	c.1210	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	-	12.80	2.047758	0.36085	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07327	3.2;3.2	1.06	-2.13	0.07144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.04588	0.0125	N	0.20845	0.615	0.09310	N	1	B	0.21753	0.06	B	0.24848	0.056	T	0.40664	-0.9551	9	0.62326	D	0.03	.	0.7202	0.00939	0.4709:0.1558:0.1622:0.2111	.	404	Q8N8Z8	ZN441_HUMAN	D	360;404;337	ENSP00000350576:Y404D;ENSP00000403738:Y337D	ENSP00000350576:Y404D	Y	+	1	0	ZNF441	11752849	0.000000	0.05858	0.000000	0.03702	0.931000	0.56810	-0.368000	0.07543	-1.624000	0.01556	0.248000	0.18094	TAT	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.373	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	-	0	51	0	T	NM_152355		11891849	1	tier1	-	no_errors	ENST00000357901	ensembl	human	known	74_37	missense	25.37	50	17	SNP	0.000	G	G	11891849	T	G	11891849	3	3	103	1	0	0	0	0	1	0	0	0	17962	1522	53	4	1224	4	ZNF441	19	11891849	Missense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09		11891849	47237134	82	28856											
NKPD1	284353	genome.wustl.edu	37	chr19	45656064	45656064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgtcgcggctctgcaccGcatcgtgcaggaactgcagc	6	7	14	14	5	1	0	0	0	1	0	4	1	1	1	1	3	5	5	1	3	1	0	rs373185063		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:45656064G>A	ENST00000438936.2	-	3	1176	c.965C>T	c.(964-966)gCg>gTg	p.A322V	NKPD1_ENST00000429338.1_Missense_Mutation_p.A322V|AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000317951.4_Missense_Mutation_p.A544V|NKPD1_ENST00000589776.1_Missense_Mutation_p.A322V			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	322	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GCTCTGCACCGCATCGTGCAG	0.677																																																	0													11	12	11					19																	45656064		2075	4190	6265	SO:0001583	missense	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.965C>T	19.37:g.45656064G>A	ENSP00000401739:p.Ala322Val		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.A544V	ENST00000438936.2	37	c.1631		19	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548970	0.45383	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.34859	1.34;1.34;1.34	5.3	5.3	0.74995	KAP P-loop (1);	0.195990	0.44902	D	0.000403	T	0.31734	0.0806	L	0.39633	1.23	0.34393	D	0.694409	P	0.48640	0.913	B	0.41466	0.358	T	0.39742	-0.9599	10	0.22706	T	0.39	-29.3235	16.4297	0.83837	0.0:0.0:1.0:0.0	.	322	Q17RQ9	NKPD1_HUMAN	V	544;322;322	ENSP00000321976:A544V;ENSP00000401739:A322V;ENSP00000404706:A322V	ENSP00000321976:A544V	A	-	2	0	NKPD1	50347904	0.997000	0.39634	0.996000	0.52242	0.897000	0.52465	4.237000	0.58681	2.476000	0.83614	0.462000	0.41574	GCG	NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.677	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0	67	0	G	NM_198478		45656064	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	missense	59.42	56	82	SNP	0.992	A	A	45656064	G	A	45656064	3	1	103	1	0	0	0	0	1	0	0	0	10485	1087	38	1	871	1	NKPD1	19	45656064	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	33764215	45656064	13472919	83	28857											
GPR32	2854	genome.wustl.edu	37	chr19	51274591	51274591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccgggccaagctcttgcGggagggctgggtccatgcca	6	7	15	13	2	1	0	0	0	1	0	3	1	3	1	4	4	3	2	4	4	1	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr19:51274591G>A	ENST00000270590.4	+	1	871	c.734G>A	c.(733-735)cGg>cAg	p.R245Q		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAGCTCTTGCGGGAGGGCTGG	0.602																																					Esophageal Squamous(113;152 1581 5732 15840 44398)												0													47	52	50					19																	51274591		2203	4294	6497	SO:0001583	missense	0			AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"GPCR / Class A : Resolvin receptors"	4487	protein-coding gene	gene with protein product	"resolvin D1 receptor"	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.734G>A	19.37:g.51274591G>A	ENSP00000270590:p.Arg245Gln		Q502U7|Q6NWS5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.R245Q	ENST00000270590.4	37	c.734	CCDS12801.1	19	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441846	0.25900	.	.	ENSG00000142511	ENST00000270590	T	0.41400	1.0	2.56	-1.93	0.07594	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.49236	0.1545	M	0.71036	2.16	0.09310	N	1	D	0.53312	0.959	P	0.55713	0.782	T	0.43065	-0.9414	9	0.72032	D	0.01	.	4.7365	0.12991	0.2454:0.1769:0.5777:0.0	.	245	O75388	GPR32_HUMAN	Q	245	ENSP00000270590:R245Q	ENSP00000270590:R245Q	R	+	2	0	GPR32	55966403	0.000000	0.05858	0.001000	0.08648	0.297000	0.27493	0.084000	0.14891	-0.439000	0.07222	0.313000	0.20887	CGG	GPR32	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt	ENSG00000142511		0.602	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR32	HGNC	protein_coding	OTTHUMT00000465016.1	-	0	107	0	G			51274591	1	tier1	-	no_errors	ENST00000270590	ensembl	human	known	74_37	missense	24.78	85	28	SNP	0.048	A	A	51274591	G	A	51274591	3	1	103	1	0	0	0	0	1	0	0	0	6714	1116	39	1	736	1	GPR32	19	51274591	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	5618527	51274591	7854392	84	28858											
TRIB3	57761	genome.wustl.edu	37	chr20	371973	371973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgctggagccctatGcgcggctgcccccgcacaag	5	6	14	16	4	0	0	0	0	0	0	0	1	0	1	4	3	4	3	4	3	2	1			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr20:371973G>A	ENST00000217233.3	+	3	887	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	TRIB3_ENST00000422053.2_Missense_Mutation_p.A139T	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	112	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GGAGCCCTATGCGCGGCTGCC	0.652																																					Melanoma(101;421 2374 19538)												0													48	53	51					20																	371973		2202	4300	6502	SO:0001583	missense	0			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"chromosome 20 open reading frame 97", "tribbles homolog 3 (Drosophila)"	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.334G>A	20.37:g.371973G>A	ENSP00000217233:p.Ala112Thr		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.A139T	ENST00000217233.3	37	c.415	CCDS12997.1	20	.	.	.	.	.	.	.	.	.	.	G	3.383	-0.125962	0.06795	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.66460	-0.21;-0.21;-0.21	5.1	1.77	0.24775	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.820566	0.10554	N	0.661078	T	0.39627	0.1085	N	0.05031	-0.125	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.09377	0.004;0.004	T	0.20505	-1.0273	10	0.31617	T	0.26	-0.872	3.7278	0.08481	0.2248:0.0:0.3114:0.4638	.	139;112	B4DMM9;Q96RU7	.;TRIB3_HUMAN	T	112;112;139	ENSP00000217233:A112T;ENSP00000391873:A112T;ENSP00000415416:A139T	ENSP00000217233:A112T	A	+	1	0	TRIB3	319973	0.000000	0.05858	0.002000	0.10522	0.137000	0.21094	0.547000	0.23299	0.164000	0.19529	0.561000	0.74099	GCG	TRIB3	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000101255		0.652	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB3	HGNC	protein_coding	OTTHUMT00000077441.2	-	0	45	0	G	NM_021158		371973	1	tier1	-	no_errors	ENST00000422053	ensembl	human	known	74_37	missense	34.94	54	29	SNP	0.001	A	A	371973	G	A	371973	3	1	103	1	0	0	0	0	1	0	0	0	16532	1319	46	3	340	3	TRIB3	20	371973	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		371973	62653547	85	28859											
ASXL1	171023	genome.wustl.edu	37	chr20	31022250	31022250	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagattcaactttcacgtAtcaaaccaccctgggtggtt	10	12	8	11	1	3	1	3	0	0	1	3	1	3	1	2	2	3	3	2	2	3	4	rs368930454		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr20:31022250A>T	ENST00000375687.4	+	13	2159	c.1735A>T	c.(1735-1737)Atc>Ttc	p.I579F	ASXL1_ENST00000306058.5_Missense_Mutation_p.I574F	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	579	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACTTTCACGTATCAAACCACC	0.488			"F, N, Mis"		"MDS, CMML"																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													53	57	56					20																	31022250		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1735A>T	20.37:g.31022250A>T	ENSP00000364839:p.Ile579Phe		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.I579F	ENST00000375687.4	37	c.1735	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219461	0.79464	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.53206	0.63;0.63	5.09	5.09	0.68999	.	0.077939	0.64402	D	0.000001	T	0.66137	0.2759	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.69308	-0.5179	10	0.72032	D	0.01	-13.9758	15.3373	0.74266	1.0:0.0:0.0:0.0	.	574;579	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	F	579;579;579;518;574	ENSP00000364839:I579F;ENSP00000305119:I574F	ENSP00000305119:I574F	I	+	1	0	ASXL1	30485911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.722000	0.91452	2.279000	0.76181	0.459000	0.35465	ATC	ASXL1	-	NULL	ENSG00000171456		0.488	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0	43	0	A	NM_015338		31022250	1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	missense	14.10	67	11	SNP	1.000	T	T	31022250	A	T	31022250	3	4	103	1	0	0	0	0	1	0	0	0	1067	449	16	5	1791	5	ASXL1	20	31022250	Missense_Mutation	SNP	A	TCGA-LN-A49P-01A-11D-A247-09	30650277	31022250	32003270	86	28860											
CYTSA	23384	genome.wustl.edu	37	chr22	24718567	24718567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataggggcactcaaagaacGcagtcaccatatggagcgaa	15	5	12	9	2	2	1	2	0	0	1	2	4	2	2	1	3	2	2	1	3	5	2	rs140698674		TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr22:24718567G>T	ENST00000314328.9	+	5	1904	c.1619G>T	c.(1618-1620)cGc>cTc	p.R540L	SPECC1L_ENST00000541492.1_Missense_Mutation_p.R540L|SPECC1L_ENST00000416735.1_Intron|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.R540L|SPECC1L_ENST00000437398.1_Missense_Mutation_p.R540L	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	540					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CTCAAAGAACGCAGTCACCAT	0.463																																																	0													53	51	52					22																	24718567		2203	4300	6503	SO:0001583	missense	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1619G>T	22.37:g.24718567G>T	ENSP00000325785:p.Arg540Leu		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.R540L	ENST00000314328.9	37	c.1619	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602489	0.87157	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.64438	-0.1;2.4;-0.1;2.92	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.73217	2.22	0.80722	D	1	D;D	0.63880	0.982;0.993	P;D	0.74023	0.643;0.982	T	0.80612	-0.1305	10	0.72032	D	0.01	-15.733	18.3864	0.90468	0.0:0.0:1.0:0.0	.	540;540	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	L	568;540;540;540;540	ENSP00000393363:R540L;ENSP00000405671:R540L;ENSP00000325785:R540L;ENSP00000439633:R540L	ENSP00000325785:R540L	R	+	2	0	SPECC1L	23048567	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	9.647000	0.98478	2.597000	0.87782	0.655000	0.94253	CGC	SPECC1L	-	NULL	ENSG00000100014		0.463	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	-	0	33	0	G	NM_015330		24718567	1	tier1	-	no_errors	ENST00000314328	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T	T	24718567	G	T	24718567	3	4	103	1	0	0	0	0	1	0	0	0	4218	1087	38	2	1629	2	CYTSA	22	24718567	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		24718567	26585999	87	28861											
EP300	2033	genome.wustl.edu	37	chr22	41565533	41565533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatatcttacctcgataGtgttcatttcttccgtccta	9	17	4	11	2	3	0	1	0	2	0	6	1	5	0	3	0	2	1	3	0	5	8			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chr22:41565533G>T	ENST00000263253.7	+	26	5418	c.4199G>T	c.(4198-4200)aGt>aTt	p.S1400I	RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1400	Acetyl-CoA binding. {ECO:0000269|PubMed:24819397}.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TACCTCGATAGTGTTCATTTC	0.338			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	0													101	95	97					22																	41565533		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4199G>T	22.37:g.41565533G>T	ENSP00000263253:p.Ser1400Ile		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S1400I	ENST00000263253.7	37	c.4199	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492996	0.84962	.	.	ENSG00000100393	ENST00000263253	D	0.96491	-4.03	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000056	D	0.98861	0.9615	H	0.96518	3.835	0.58432	D	0.999998	D	0.76494	0.999	D	0.87578	0.998	D	0.99441	1.0938	10	0.87932	D	0	-9.0117	19.5071	0.95124	0.0:0.0:1.0:0.0	.	1400	Q09472	EP300_HUMAN	I	1400	ENSP00000263253:S1400I	ENSP00000263253:S1400I	S	+	2	0	EP300	39895479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.760000	0.98935	2.617000	0.88574	0.557000	0.71058	AGT	EP300	-	pfam_Histone_H3-K56_AcTrfase_RTT109	ENSG00000100393		0.338	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	25	0	G	NM_001429		41565533	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	missense	33.77	51	26	SNP	1.000	T	T	41565533	G	T	41565533	3	4	103	1	0	0	0	0	1	0	0	0	5164	1029	36	3	4301	3	EP300	22	41565533	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	16846966	41565533	9739033	88	28862											
DIAPH2	1730	genome.wustl.edu	37	chrX	96212977	96212977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctttacctggaatgatgGggataccaccaccaccccca	10	8	7	16	0	0	1	0	1	0	0	1	3	1	3	7	3	2	0	7	3	3	3			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:96212977G>T	ENST00000324765.8	+	16	2112	c.1765G>T	c.(1765-1767)Ggg>Tgg	p.G589W	DIAPH2_ENST00000373054.4_Missense_Mutation_p.G585W|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G589W|DIAPH2_ENST00000373061.3_Missense_Mutation_p.G589W|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G589W			O60879	DIAP2_HUMAN	diaphanous-related formin 2	589	FH1.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGGAATGATGGGGATACCACC	0.597																																																	0													60	53	55					X																	96212977		2203	4300	6503	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1765G>T	X.37:g.96212977G>T	ENSP00000321348:p.Gly589Trp		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin	p.G589W	ENST00000324765.8	37	c.1765	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720061	0.30503	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96	5.34	1.16	0.20824	.	13.034700	0.00166	N	0.000013	T	0.46308	0.1386	M	0.84948	2.725	0.09310	N	1	P;D	0.54964	0.948;0.969	P;P	0.55508	0.604;0.777	T	0.25433	-1.0132	10	0.38643	T	0.18	.	10.1599	0.42844	0.0741:0.3727:0.5532:0.0	.	589;589	O60879;O60879-2	DIAP2_HUMAN;.	W	589;585;589;589;589;596	ENSP00000362152:G589W;ENSP00000362145:G585W;ENSP00000348082:G589W;ENSP00000362140:G589W;ENSP00000321348:G589W	ENSP00000321348:G589W	G	+	1	0	DIAPH2	96099633	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.208000	0.17415	0.086000	0.17137	0.594000	0.82650	GGG	DIAPH2	-	NULL	ENSG00000147202		0.597	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2		0	31	0	G	NM_006729, NM_007309		96212977	1			no_errors	ENST00000324765	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.000	T	T	96212977	G	T	96212977	3	4	103	1	0	0	0	0	1	0	0	0	4533	1232	43	3	1827	3	DIAPH2	23	96212977	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09		96212977	59057583	89	28863											
ARMCX5	64860	genome.wustl.edu	37	chrX	101858368	101858368	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactatgtgattaccagttaTattccagatttcctcacctt	10	16	4	11	0	1	2	1	1	0	1	3	2	3	2	4	0	1	1	4	0	4	7			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:101858368T>G	ENST00000604957.1	+	1	3921	c.1299T>G	c.(1297-1299)taT>taG	p.Y433*	ARMCX5_ENST00000541409.1_Nonsense_Mutation_p.Y433*|ARMCX5_ENST00000536530.1_Nonsense_Mutation_p.Y433*|ARMCX5_ENST00000246174.2_Nonsense_Mutation_p.Y433*|ARMCX5_ENST00000372742.1_Nonsense_Mutation_p.Y433*|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Nonsense_Mutation_p.Y433*|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	433										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTACCAGTTATATTCCAGATT	0.373																																																	0													55	53	54					X																	101858368		2203	4300	6503	SO:0001587	stop_gained	0				CCDS14500.1	Xq22.1-q22.3	2014-03-21			ENSG00000125962	ENSG00000125962		"Armadillo repeat containing"	25772	protein-coding gene	gene with protein product						16221301, 22569362	Standard	NM_022838		Approved	FLJ12969, GASP5	uc004ejh.3	Q6P1M9	OTTHUMG00000022062	ENST00000604957.1:c.1299T>G	X.37:g.101858368T>G	ENSP00000474720:p.Tyr433*		B3KU88|D3DX99|Q68DB4|Q9BVZ3|Q9H969	Nonsense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.Y433*	ENST00000604957.1	37	c.1299	CCDS14500.1	X	.	.	.	.	.	.	.	.	.	.	T	39	7.308225	0.98203	.	.	ENSG00000125962	ENST00000246174;ENST00000537008;ENST00000541409;ENST00000536530;ENST00000372742	.	.	.	4.11	-0.848	0.10727	.	0.000000	0.38217	N	0.001772	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.271	7.3129	0.26485	0.0:0.3977:0.0:0.6023	.	.	.	.	X	433	.	ENSP00000246174:Y433X	Y	+	3	2	ARMCX5	101745024	0.604000	0.26932	0.043000	0.18650	0.624000	0.37722	-1.143000	0.03200	-0.282000	0.09128	-0.395000	0.06472	TAT	ARMCX5	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000125962		0.373	ARMCX5-013	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX5	HGNC	protein_coding	OTTHUMT00000469659.1	-	0	43	0	T	NM_022838		101858368	1	tier1	-	no_errors	ENST00000246174	ensembl	human	known	74_37	nonsense	63.41	45	78	SNP	0.051	G	G	101858368	T	G	101858368	4	3	103	1	0	0	0	0	0	1	0	0	963	1413	49	4	1301	4	ARMCX5	23	101858368	Nonsense_Mutation	SNP	T	TCGA-LN-A49P-01A-11D-A247-09	5645391	101858368	53412192	90	28864											
NXF3	56000	genome.wustl.edu	37	chrX	102347947	102347947	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtgtcctgaaggcagtGacattttaccaatgtcctta	10	14	9	8	0	0	2	0	2	0	0	2	2	2	2	3	1	1	1	3	1	5	4			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:102347947G>T	ENST00000395065.3	-	1	106	c.5C>A	c.(4-6)tCa>tAa	p.S2*	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	2					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGAAGGCAGTGACATTTTACC	0.562																																																	0													159	130	140					X																	102347947		2203	4300	6503	SO:0001587	stop_gained	0			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.5C>A	X.37:g.102347947G>T	ENSP00000378504:p.Ser2*		B4DYS7|Q5H9I1|Q9H1A9	Nonsense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.S2*	ENST00000395065.3	37	c.5	CCDS14503.1	X	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189219	0.57909	.	.	ENSG00000147206	ENST00000395065	.	.	.	2.94	-1.05	0.10036	.	3.167900	0.01386	U	0.013113	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.3346	0.04244	0.2833:0.0:0.3163:0.4003	.	.	.	.	X	2	.	ENSP00000378504:S2X	S	-	2	0	NXF3	102234603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.231000	0.09069	-0.411000	0.07530	0.600000	0.82982	TCA	NXF3	-	NULL	ENSG00000147206		0.562	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	HGNC	protein_coding	OTTHUMT00000057684.1	-	0	34	0	G	NM_022052		102347947	-1	tier1	-	no_errors	ENST00000395065	ensembl	human	known	74_37	nonsense	64.37	31	56	SNP	0.000	T	T	102347947	G	T	102347947	4	4	103	1	0	0	0	0	0	1	0	0	10824	1294	45	3	1666	3	NXF3	23	102347947	Nonsense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	489579	102347947	52922613	91	28865											
SLITRK2	84631	genome.wustl.edu	37	chrX	144905225	144905225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaccagtttacgcagaCtttatctgaatggcaattac	12	12	7	10	1	1	3	0	2	1	1	1	3	1	3	2	1	2	3	2	1	5	5			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:144905225C>A	ENST00000370490.1	+	1	5537	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I	SLITRK2_ENST00000434188.2_Missense_Mutation_p.L428I|SLITRK2_ENST00000428560.2_Missense_Mutation_p.L428I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.L428I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.L428I			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	428					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TTTACGCAGACTTTATCTGAA	0.398																																																	0													131	132	131					X																	144905225		2203	4300	6503	SO:0001583	missense	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1282C>A	X.37:g.144905225C>A	ENSP00000359521:p.Leu428Ile		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L428I	ENST00000370490.1	37	c.1282	CCDS14680.1	X	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758573	0.69763	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.90484	0.7019	M	0.85859	2.78	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	D	0.91880	0.5515	10	0.72032	D	0.01	-7.0935	15.6062	0.76672	0.0:1.0:0.0:0.0	.	428	Q9H156	SLIK2_HUMAN	I	428	ENSP00000334374:L428I;ENSP00000411681:L428I;ENSP00000359521:L428I;ENSP00000397015:L428I;ENSP00000407347:L428I;ENSP00000412010:L428I	ENSP00000334374:L428I	L	+	1	0	SLITRK2	144712917	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.276000	0.51646	2.280000	0.76307	0.594000	0.82650	CTT	SLITRK2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000185985		0.398	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0	39	0	C	NM_032539		144905225	1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	missense	12.50	56	8	SNP	1.000	A	A	144905225	C	A	144905225	3	1	103	1	0	0	0	0	1	0	0	0	14788	565	20	3	1284	3	SLITRK2	23	144905225	Missense_Mutation	SNP	C	TCGA-LN-A49P-01A-11D-A247-09	42557278	144905225	10365335	92	28866											
MAGEA9	728269	genome.wustl.edu	37	chrX	148664813	148664813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcaggcttgcagtgcGgactcctctgctcgagagac	7	10	11	13	2	3	1	2	0	1	1	5	4	4	2	1	2	3	3	1	2	0	2			TCGA-LN-A49P-01A-11D-A247-09	TCGA-LN-A49P-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4b817460-a959-4426-b0e4-1ef0c5fa7a42	1909da38-51a6-4177-a899-14f1f61c0b69	g.chrX:148664813G>A	ENST00000243314.5	-	4	309	c.23C>T	c.(22-24)cCg>cTg	p.P8L		NM_001080790.1	NP_001074259.1	P43362	MAGA9_HUMAN	melanoma antigen family A, 9B	8																	CTTGCAGTGCGGACTCCTCTG	0.622																																																	0													5	7	6					X																	148664813		1166	2410	3576	SO:0001583	missense	0				CCDS35423.1	Xp11	2014-05-06			ENSG00000123584	ENSG00000123584			31909	protein-coding gene	gene with protein product		300764					Standard	NM_001080790		Approved		uc004fdk.3	P43362	OTTHUMG00000188533	ENST00000243314.5:c.23C>T	X.37:g.148664813G>A	ENSP00000243314:p.Pro8Leu		A8K8A7|Q7Z5K4|Q92910	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P8L	ENST00000243314.5	37	c.23	CCDS35423.1	X	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606977	0.28623	.	.	ENSG00000123584	ENST00000243314	T	0.04194	3.68	2.15	-4.29	0.03721	Melanoma associated antigen, MAGE, N-terminal (1);	5.656380	0.00166	N	0.000004	T	0.02418	0.0074	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41342	-0.9514	10	0.33141	T	0.24	.	4.4939	0.11828	0.0:0.1392:0.3558:0.505	.	8	P43362	MAGA9_HUMAN	L	8	ENSP00000243314:P8L	ENSP00000243314:P8L	P	-	2	0	MAGEA9B	148472609	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.013000	0.01450	-1.237000	0.02539	-2.173000	0.00322	CCG	MAGEA9B	-	pfam_Melanoma_ass_antigen_N	ENSG00000123584		0.622	MAGEA9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA9B	HGNC	protein_coding	OTTHUMT00000058697.4	-	0	67	0	G	NM_001080790		148664813	-1	tier1	-	no_errors	ENST00000243314	ensembl	human	known	74_37	missense	14.18	115	19	SNP	0.000	A	A	148664813	G	A	148664813	3	1	103	1	0	0	0	0	1	0	0	0	9208	1116	39	1	928	1	MAGEA9	23	148664813	Missense_Mutation	SNP	G	TCGA-LN-A49P-01A-11D-A247-09	3759588	148664813	6605747	93	28867											
TAS1R3	83756	genome.wustl.edu	37	chr1	1266824	1266824	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcaacttaggatgaagggGgactacgtgctgggggggct	9	7	18	7	1	0	1	0	1	0	0	0	3	0	3	0	6	4	3	0	6	4	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:1266824G>T	ENST00000339381.5	+	1	131	c.99G>T	c.(97-99)ggG>ggT	p.G33G		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	33					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GGATGAAGGGGGACTACGTGC	0.692																																																	0													15	17	16					1																	1266824		2181	4264	6445	SO:0001819	synonymous_variant	0			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.99G>T	1.37:g.1266824G>T			Q5TA49|Q8NGW9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.G33	ENST00000339381.5	37	c.99	CCDS30556.1	1																																																																																			TAS1R3	-	superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000169962		0.692	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	-	0	34	0	G			1266824	1	tier1	-	no_errors	ENST00000339381	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.998	T	T	1266824	G	T	1266824	2	4	104	1	0	0	0	0	0	0	0	1	15611	1219	43	3		3	TAS1R3	1	1266824	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		1266824	247983797	1	28868											
AMY2B	280	genome.wustl.edu	37	chr1	104116487	104116487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctggagacataaaggCaattttggacaaactgcata	14	9	11	7	0	0	1	0	0	0	1	0	3	0	2	1	4	2	2	1	4	5	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:104116487C>A	ENST00000361355.4	+	6	1287	c.671C>A	c.(670-672)gCa>gAa	p.A224E	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	224					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GACATAAAGGCAATTTTGGAC	0.398																																																	0													199	196	197					1																	104116487		2203	4294	6497	SO:0001583	missense	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.671C>A	1.37:g.104116487C>A	ENSP00000354610:p.Ala224Glu		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.A224E	ENST00000361355.4	37	c.671	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767148	0.69878	.	.	ENSG00000240038	ENST00000361355	D	0.98060	-4.69	4.47	4.47	0.54385	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.112076	0.64402	D	0.000013	D	0.98416	0.9473	M	0.86651	2.83	0.58432	D	0.999996	D	0.62365	0.991	P	0.62184	0.899	D	0.98225	1.0480	10	0.36615	T	0.2	.	17.1885	0.86873	0.0:1.0:0.0:0.0	.	224	P19961	AMY2B_HUMAN	E	224	ENSP00000354610:A224E	ENSP00000354610:A224E	A	+	2	0	AMY2B	103918010	0.900000	0.30661	0.957000	0.39632	0.911000	0.54048	1.878000	0.39608	2.045000	0.60652	0.552000	0.68991	GCA	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000240038		0.398	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	-	0	126	0	C	NM_020978		104116487	1	tier1	-	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	58.54	51	72	SNP	0.991	A	A	104116487	C	A	104116487	3	1	104	1	0	0	0	0	1	0	0	0	595	710	25	3	685	3	AMY2B	1	104116487	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	102849663	104116487	145134134	2	28869											
AMY2B	280	genome.wustl.edu	37	chr1	104117883	104117883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtttcatgccttctgacaGagcacttgtctttgtggata	7	15	11	8	0	3	2	1	1	2	1	3	3	3	3	1	2	2	2	1	2	1	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:104117883G>A	ENST00000361355.4	+	8	1533	c.917G>A	c.(916-918)aGa>aAa	p.R306K	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	306					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CCTTCTGACAGAGCACTTGTC	0.413																																																	0													286	284	285					1																	104117883		2203	4298	6501	SO:0001583	missense	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"amylase, alpha 2B; pancreatic"	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.917G>A	1.37:g.104117883G>A	ENSP00000354610:p.Arg306Lys		B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.R306K	ENST00000361355.4	37	c.917	CCDS782.1	1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722453	0.30503	.	.	ENSG00000240038	ENST00000361355	D	0.98221	-4.8	5.26	3.38	0.38709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.100808	0.64402	D	0.000002	D	0.90150	0.6922	N	0.11818	0.18	0.43095	D	0.994779	B	0.06786	0.001	B	0.06405	0.002	D	0.87070	0.2159	10	0.39692	T	0.17	.	9.8394	0.40989	0.2197:0.0:0.7803:0.0	.	306	P19961	AMY2B_HUMAN	K	306	ENSP00000354610:R306K	ENSP00000354610:R306K	R	+	2	0	AMY2B	103919406	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.131000	0.42074	1.219000	0.43474	0.558000	0.71614	AGA	AMY2B	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase	ENSG00000240038		0.413	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	-	0	107	0	G	NM_020978		104117883	1	tier1	-	no_errors	ENST00000361355	ensembl	human	known	74_37	missense	25.00	69	23	SNP	1.000	A	A	104117883	G	A	104117883	3	1	104	1	0	0	0	0	1	0	0	0	595	942	33	3	939	3	AMY2B	1	104117883	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	1396	104117883	145132738	3	28870											
NTNG1	22854	genome.wustl.edu	37	chr1	107961248	107961248	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatatttcttcccttgaGgtttctaacccaaaacaagg	12	12	6	11	1	2	1	0	1	2	0	3	2	3	1	3	2	2	1	3	2	6	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:107961248G>T	ENST00000370068.1	+	5	1933				NTNG1_ENST00000370061.3_Missense_Mutation_p.E378D|NTNG1_ENST00000370070.2_Missense_Mutation_p.E378D|NTNG1_ENST00000370066.1_Missense_Mutation_p.E378D|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370071.2_Missense_Mutation_p.E378D|NTNG1_ENST00000370067.1_Missense_Mutation_p.E378D			Q9Y2I2	NTNG1_HUMAN	netrin G1						axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTTCCCTTGAGGTTTCTAACC	0.373																																																	0													88	76	80					1																	107961248		1567	3581	5148	SO:0001627	intron_variant	0			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"Netrins"	23319	protein-coding gene	gene with protein product	"netrin G1f", "Netrin-G1"	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1087+10918G>T	1.37:g.107961248G>T			Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.E378D	ENST00000370068.1	37	c.1134	CCDS44180.1	1	.	.	.	.	.	.	.	.	.	.	G	7.407	0.633924	0.14322	.	.	ENSG00000162631	ENST00000370071;ENST00000370061;ENST00000370070;ENST00000370064;ENST00000370062;ENST00000370067;ENST00000370066	T;T;T;T;T	0.70516	-0.38;0.21;-0.49;-0.46;-0.38	5.92	4.95	0.65309	.	.	.	.	.	T	0.24928	0.0605	N	0.08118	0	0.09310	N	0.999997	B;B	0.20368	0.0;0.044	B;B	0.17979	0.001;0.02	T	0.05468	-1.0883	9	0.02654	T	1	.	11.5845	0.50910	0.0:0.134:0.727:0.139	.	378;378	B4DKF0;Q9Y2I2-4	.;.	D	378;378;378;139;139;378;378	ENSP00000359088:E378D;ENSP00000359078:E378D;ENSP00000359087:E378D;ENSP00000359084:E378D;ENSP00000359083:E378D	ENSP00000359078:E378D	E	+	3	2	NTNG1	107762771	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.081000	0.50120	2.809000	0.96659	0.557000	0.71058	GAG	NTNG1	-	NULL	ENSG00000162631		0.373	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	-	0	22	0	G	NM_014917		107961248	1	tier1	-	no_errors	ENST00000370061	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	T	T	107961248	G	T	107961248	1	4	104	0	1	0	0	0	0	0	0	0	10743	991	35	3		3	NTNG1	1	107961248	Intron	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	3843365	107961248	141289373	4	28871											
HSD3B2	3284	genome.wustl.edu	37	chr1	119964528	119964528	+	Frame_Shift_Del	DEL	A	A	-																															cgggcccaactcctacaaggAaatcatccagaacggccacg																										TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:119964528delA	ENST00000543831.1	+	4	653	c.404delA	c.(403-405)gaafs	p.E135fs	HSD3B2_ENST00000369416.3_Frame_Shift_Del_p.E135fs	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	135					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TCCTACAAGGAAATCATCCAG	0.552																																																	0													106	106	106					1																	119964528		2203	4300	6503	SO:0001589	frameshift_variant	0			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5218	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 2"	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.404delA	1.37:g.119964528delA	ENSP00000445122:p.Glu135fs		A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Frame_Shift_Del	DEL	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.I136fs	ENST00000543831.1	37	c.404	CCDS902.1	1																																																																																			HSD3B2	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct	ENSG00000203859		0.552	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1		0	28	0	A	NM_000198		119964528	1	tier1		no_errors	ENST00000369416	ensembl	human	known	74_37	frame_shift_del	30.95	29	13	DEL	0.264	-	-	119964528	A	-	119964528	7	5	104	1	0	1	0	1	0	0	0	0	7418	246	9	0	414	0	HSD3B2	1	119964528	Frame_Shift_Del	DEL	A	TCGA-LN-A49R-01A-11D-A247-09	12003280	119964528	129286093	5	28872											
PRPF3	9129	genome.wustl.edu	37	chr1	150300856	150300856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaataccccgttttgaggaGgtggaagaagagccagaggt	12	7	15	7	2	0	4	0	1	0	3	0	7	0	6	3	4	2	1	3	4	4	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:150300856G>T	ENST00000324862.6	+	4	519	c.354G>T	c.(352-354)gaG>gaT	p.E118D	PRPF3_ENST00000414970.2_Intron|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_5'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	118					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GTTTTGAGGAGGTGGAAGAAG	0.498																																					Ovarian(168;1070 2670 5178 20729)												0													129	135	133					1																	150300856		2203	4300	6503	SO:0001583	missense	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.354G>T	1.37:g.150300856G>T	ENSP00000315379:p.Glu118Asp		B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom	p.E118D	ENST00000324862.6	37	c.354	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	G	8.936	0.964624	0.18583	.	.	ENSG00000117360	ENST00000324862	T	0.78003	-1.14	5.91	3.05	0.35203	.	0.047975	0.85682	D	0.000000	T	0.43255	0.1239	L	0.34521	1.04	0.80722	D	1	B;B	0.25486	0.127;0.002	B;B	0.23419	0.046;0.001	T	0.30592	-0.9973	10	0.10636	T	0.68	-20.4701	8.591	0.33688	0.3604:0.0:0.6396:0.0	.	118;118	B2R791;O43395	.;PRPF3_HUMAN	D	118	ENSP00000315379:E118D	ENSP00000315379:E118D	E	+	3	2	PRPF3	148567480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.582000	0.23834	0.411000	0.25702	0.655000	0.94253	GAG	PRPF3	-	NULL	ENSG00000117360		0.498	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	HGNC	protein_coding	OTTHUMT00000035836.1	-	0	44	0	G	NM_004698		150300856	1	tier1	-	no_errors	ENST00000324862	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	150300856	G	T	150300856	3	4	104	1	0	0	0	0	1	0	0	0	12607	991	35	3	364	3	PRPF3	1	150300856	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	30336328	150300856	98949765	6	28873											
SEMA6C	10500	genome.wustl.edu	37	chr1	151105028	151105028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgacgaggggaggcttcaGggacaactggggcttctcga	8	6	16	11	3	2	0	1	0	1	0	3	5	2	2	1	6	1	2	1	6	1	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:151105028G>A	ENST00000341697.3	-	19	4416	c.2725C>T	c.(2725-2727)Ctg>Ttg	p.L909L	SEMA6C_ENST00000479820.1_Intron|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	909					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGGCTTCAGGGACAACTGG	0.711																																																	0													4	7	6					1																	151105028		1945	3879	5824	SO:0001819	synonymous_variant	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"Semaphorins"	10740	protein-coding gene	gene with protein product	"m-Sema Y2"	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2725C>T	1.37:g.151105028G>A			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom	p.L941	ENST00000341697.3	37	c.2821	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	G	2.216	-0.379521	0.05000	.	.	ENSG00000143434	ENST00000392792	.	.	.	3.73	2.8	0.32819	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37865	-0.9687	4	.	.	.	.	8.9436	0.35745	0.0:0.2286:0.7714:0.0	.	.	.	.	L	420	.	.	P	-	2	0	SEMA6C	149371652	1.000000	0.71417	0.127000	0.21898	0.432000	0.31715	1.794000	0.38774	0.739000	0.32628	-0.519000	0.04390	CCT	SEMA6C	-	NULL	ENSG00000143434		0.711	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	-	0	63	0	G	NM_030913		151105028	-1	tier1	-	no_errors	ENST00000368913	ensembl	human	known	74_37	silent	47.62	33	30	SNP	0.997	A	A	151105028	G	A	151105028	2	1	104	1	0	0	0	0	0	0	0	1	14086	991	35	3		3	SEMA6C	1	151105028	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	804172	151105028	98145593	7	28874											
DARS2	55157	genome.wustl.edu	37	chr1	173807358	173807358	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcccgatgttatcgagaTgaaggttcaagaccagacag	12	9	12	8	2	1	4	1	1	0	3	2	6	1	4	2	1	1	3	2	1	3	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:173807358T>G	ENST00000361951.4	+	9	1528	c.801T>G	c.(799-801)gaT>gaG	p.D267E	DARS2_ENST00000239457.5_De_novo_Start_OutOfFrame	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	267					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GTTATCGAGATGAAGGTTCAA	0.333																																																	0													133	126	128					1																	173807358		2203	4300	6503	SO:0001583	missense	0			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.801T>G	1.37:g.173807358T>G	ENSP00000355086:p.Asp267Glu			Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA,superfamily_GAD_dom,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	p.D267E	ENST00000361951.4	37	c.801	CCDS1311.1	1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367675	0.82463	.	.	ENSG00000117593	ENST00000361951	D	0.85258	-1.96	5.68	2.14	0.27477	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93416	0.7900	H	0.98833	4.345	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92105	0.5691	10	0.87932	D	0	-21.1225	8.6193	0.33851	0.0:0.2247:0.0:0.7753	.	267	Q6PI48	SYDM_HUMAN	E	267	ENSP00000355086:D267E	ENSP00000355086:D267E	D	+	3	2	DARS2	172073981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.856000	0.27818	0.120000	0.18254	0.455000	0.32223	GAT	DARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	ENSG00000117593		0.333	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	-	0	56	0	T	NM_018122		173807358	1	tier1	-	no_errors	ENST00000361951	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	G	G	173807358	T	G	173807358	3	3	104	1	0	0	0	0	1	0	0	0	4251	1461	51	4	835	4	DARS2	1	173807358	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	22702330	173807358	75443263	8	28875											
TNR	7143	genome.wustl.edu	37	chr1	175372316	175372316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagccctcttcacagacGcagagcccctcctcacattg	8	9	8	16	1	3	2	2	0	1	2	4	2	4	2	4	1	2	2	4	1	1	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:175372316G>A	ENST00000367674.2	-	4	1644	c.936C>T	c.(934-936)tgC>tgT	p.C312C	TNR_ENST00000263525.2_Silent_p.C312C			Q92752	TENR_HUMAN	tenascin R	312	Cys-rich.|EGF-like 5.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTTCACAGACGCAGAGCCCCT	0.607																																																	0													92	76	82					1																	175372316		2203	4300	6503	SO:0001819	synonymous_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.936C>T	1.37:g.175372316G>A			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.C312	ENST00000367674.2	37	c.936	CCDS1318.1	1																																																																																			TNR	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000116147		0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0	12	0	G	NM_003285		175372316	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	64.29	5	9	SNP	0.652	A	A	175372316	G	A	175372316	2	1	104	1	0	0	0	0	0	0	0	1	16385	1079	38	1		1	TNR	1	175372316	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	1564958	175372316	73878305	9	28876											
SMG7	9887	genome.wustl.edu	37	chr1	183506344	183506344	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaagaggacctctcaagtAttagtggtaagggctaccct	12	10	11	8	0	1	2	1	1	1	1	2	3	1	3	2	3	1	3	2	3	6	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:183506344A>G	ENST00000347615.2	+	11	1347	c.1228A>G	c.(1228-1230)Att>Gtt	p.I410V	SMG7_ENST00000508461.1_Missense_Mutation_p.I368V|SMG7_ENST00000515829.2_Missense_Mutation_p.I410V|SMG7_ENST00000507469.1_Missense_Mutation_p.I410V|SMG7_ENST00000367537.3_Missense_Mutation_p.I439V|SMG7_ENST00000456731.2_Missense_Mutation_p.I368V	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	410					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCTCTCAAGTATTAGTGGTAA	0.388																																																	0													151	133	140					1																	183506344		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"EST1 telomerase component homolog C (S. cerevisiae)"	610964	"chromosome 1 open reading frame 16", "smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1228A>G	1.37:g.183506344A>G	ENSP00000340766:p.Ile410Val		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.I410V	ENST00000347615.2	37	c.1228	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	A	7.321	0.616912	0.14129	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.69	4.57	0.56435	.	0.337409	0.35179	N	0.003392	T	0.13329	0.0323	N	0.08118	0	0.18873	N	0.999987	B;B;B;B;B;B	0.13145	0.006;0.003;0.001;0.001;0.002;0.007	B;B;B;B;B;B	0.18561	0.012;0.013;0.008;0.005;0.012;0.022	T	0.25117	-1.0141	10	0.17832	T	0.49	-3.8014	5.4274	0.16433	0.7044:0.1485:0.1471:0.0	.	368;439;368;410;410;410	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	V	368;439;368;368;410;410;410	ENSP00000407629:I368V;ENSP00000356507:I439V;ENSP00000426915:I368V;ENSP00000388390:I368V;ENSP00000340766:I410V;ENSP00000425133:I410V;ENSP00000421358:I410V	ENSP00000340766:I410V	I	+	1	0	SMG7	181772967	0.998000	0.40836	1.000000	0.80357	0.735000	0.41995	2.217000	0.42880	1.001000	0.39076	0.528000	0.53228	ATT	SMG7	-	NULL	ENSG00000116698		0.388	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	0	84	0	A	NM_014837		183506344	1	tier1	-	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.999	G	G	183506344	A	G	183506344	3	3	104	1	0	0	0	0	1	0	0	0	14843	449	16	4	1270	4	SMG7	1	183506344	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	8134028	183506344	65744277	10	28877											
HMCN1	83872	genome.wustl.edu	37	chr1	186092111	186092111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattagccctcatctaaaGgaatatgttattgctgtgga	11	14	9	7	0	3	0	2	0	1	0	3	2	3	2	1	2	2	2	1	2	6	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:186092111G>A	ENST00000271588.4	+	81	12487	c.12258G>A	c.(12256-12258)aaG>aaA	p.K4086K	HMCN1_ENST00000367492.2_Silent_p.K4086K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4086	Ig-like C2-type 40.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTCATCTAAAGGAATATGTTA	0.403																																																	0													100	90	93					1																	186092111		2203	4300	6503	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12258G>A	1.37:g.186092111G>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.K4086	ENST00000271588.4	37	c.12258	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	30	0	G	NM_031935		186092111	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	silent	53.85	12	14	SNP	0.111	A	A	186092111	G	A	186092111	2	1	104	1	0	0	0	0	0	0	0	1	7247	991	35	3		3	HMCN1	1	186092111	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	2585767	186092111	63158510	11	28878											
CDK18	5129	genome.wustl.edu	37	chr1	205498558	205498558	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcatcaaccacgcgcccagGtagcccctgcgcccgccgcc	6	4	9	22	5	2	0	2	0	0	0	2	0	2	0	7	1	3	1	7	1	2	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:205498558G>T	ENST00000360066.2	+	12	1479		c.e12+1		CDK18_ENST00000429964.2_Splice_Site|CDK18_ENST00000506784.1_Splice_Site|CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ACGCGCCCAGGTAGCCCCTGC	0.677											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)												0													36	40	39					1																	205498558		2203	4299	6502	SO:0001630	splice_region_variant	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"Cyclin-dependent kinases"	8751	protein-coding gene	gene with protein product		169190	"PCTAIRE protein kinase 3"	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.1178+1G>T	1.37:g.205498558G>T		2152	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Splice_Site	SNP	-	e11+1	ENST00000360066.2	37	c.1268+1	CCDS44300.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.517244|4.517244	0.85495|0.85495	.|.	.|.	ENSG00000117266|ENSG00000117266	ENST00000429964;ENST00000506784;ENST00000360066|ENST00000437052	.|.	.|.	.|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72095	.|0.3418	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71721	.|-0.4507	.|4	.|.	.|.	.|.	.|-27.9848	16.6722|16.6722	0.85270|0.85270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|S	-1|157	.|.	.|.	.|R	+|+	.|3	.|2	CDK18|CDK18	203765181|203765181	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.904000|0.904000	0.53231|0.53231	9.651000|9.651000	0.98493|0.98493	2.361000|2.361000	0.80049|0.80049	0.563000|0.563000	0.77884|0.77884	.|AGG	CDK18	-	-	ENSG00000117266		0.677	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	-	0	29	0	G	NM_002596	Intron	205498558	1	tier1	-	no_errors	ENST00000506784	ensembl	human	known	74_37	splice_site	62.50	6	10	SNP	1.000	T	T	205498558	G	T	205498558	5	4	104	1	0	0	0	0	0	0	1	0	3141	1275	44	3	1311	3	CDK18	1	205498558	Splice_Site	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	19406447	205498558	43752063	12	28879											
DTL	51514	genome.wustl.edu	37	chr1	212241588	212241588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatcaaagtatgggatttaCgtaagaattatactgcttat	15	15	7	4	1	1	1	1	0	0	1	1	2	1	2	0	1	3	3	0	1	9	8			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr1:212241588C>T	ENST00000366991.4	+	9	1050	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	DTL_ENST00000475419.1_Intron|DTL_ENST00000542077.1_Missense_Mutation_p.R204C	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	246					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATGGGATTTACGTAAGAATTA	0.373																																																	0													87	84	85					1																	212241588		2203	4300	6503	SO:0001583	missense	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"DDB1 and CUL4 associated factors", "WD repeat domain containing"	30288	protein-coding gene	gene with protein product	"RA regulated nuclear matrix associated protein", "DDB1 and CUL4 associated factor 2"	610617	"denticleless homolog (Drosophila)"			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.736C>T	1.37:g.212241588C>T	ENSP00000355958:p.Arg246Cys		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R246C	ENST00000366991.4	37	c.736	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768431	0.69878	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.23754	1.89;1.89	5.58	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62506	-0.6840	10	0.66056	D	0.02	-12.4337	8.8354	0.35109	0.1483:0.7749:0.0:0.0768	.	204;246	F5GZ90;Q9NZJ0	.;DTL_HUMAN	C	246;204	ENSP00000355958:R246C;ENSP00000443870:R204C	ENSP00000355958:R246C	R	+	1	0	DTL	210308211	1.000000	0.71417	0.948000	0.38648	0.983000	0.72400	3.473000	0.53122	1.491000	0.48482	0.637000	0.83480	CGT	DTL	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143476		0.373	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	-	0	71	0	C	NM_016448		212241588	1	tier1	-	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	27.59	42	16	SNP	1.000	T	T	212241588	C	T	212241588	3	4	104	1	0	0	0	0	1	0	0	0	4801	536	19	1	770	1	DTL	1	212241588	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	6743030	212241588	37009033	13	28880											
APOB	338	genome.wustl.edu	37	chr2	21227283	21227283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatggagatcggtgaacGctgggcttttgatattgagg	9	11	16	5	2	0	5	0	3	0	2	1	6	0	5	0	4	1	3	0	4	2	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:21227283G>A	ENST00000233242.1	-	28	12072	c.11945C>T	c.(11944-11946)gCg>gTg	p.A3982V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3982					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCGGTGAACGCTGGGCTTTT	0.502																																																	0													145	140	142					2																	21227283		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11945C>T	2.37:g.21227283G>A	ENSP00000233242:p.Ala3982Val		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.A3982V	ENST00000233242.1	37	c.11945	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605847	0.46527	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.18657	2.2	5.99	-1.51	0.08664	.	1.052620	0.07415	N	0.893008	T	0.15522	0.0374	L	0.44542	1.39	0.09310	N	0.999999	B	0.15719	0.014	B	0.06405	0.002	T	0.33727	-0.9857	10	0.51188	T	0.08	.	3.0621	0.06203	0.3098:0.1058:0.483:0.1014	.	3982	P04114	APOB_HUMAN	V	3982	ENSP00000233242:A3982V	ENSP00000233242:A3982V	A	-	2	0	APOB	21080788	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.644000	0.24766	-0.619000	0.05648	0.655000	0.94253	GCG	APOB	-	NULL	ENSG00000084674		0.502	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	114	0	G			21227283	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	42.98	69	52	SNP	0.000	A	A	21227283	G	A	21227283	3	1	104	1	0	0	0	0	1	0	0	0	785	1087	38	1	1754	1	APOB	2	21227283	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		21227283	221972090	14	28881											
APOB	338	genome.wustl.edu	37	chr2	21234621	21234621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacttcccagtgatagctCtgtgagggcggctttcccat	7	11	11	12	1	1	2	0	2	1	0	3	2	3	2	2	2	2	3	2	2	1	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:21234621C>T	ENST00000233242.1	-	26	5246	c.5119G>A	c.(5119-5121)Gag>Aag	p.E1707K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1707					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGATAGCTCTGTGAGGGCG	0.463																																																	0													152	144	147					2																	21234621		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5119G>A	2.37:g.21234621C>T	ENSP00000233242:p.Glu1707Lys		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E1707K	ENST00000233242.1	37	c.5119	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233329	0.79688	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01084	5.36	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000013	T	0.06781	0.0173	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.03875	-1.0996	10	0.66056	D	0.02	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	1707	P04114	APOB_HUMAN	K	1707	ENSP00000233242:E1707K	ENSP00000233242:E1707K	E	-	1	0	APOB	21088126	0.996000	0.38824	0.998000	0.56505	0.903000	0.53119	3.333000	0.52090	2.834000	0.97654	0.650000	0.86243	GAG	APOB	-	NULL	ENSG00000084674		0.463	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0	28	0	C			21234621	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	39.02	25	16	SNP	1.000	T	T	21234621	C	T	21234621	3	4	104	1	0	0	0	0	1	0	0	0	785	922	32	3	8588	3	APOB	2	21234621	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	7338	21234621	221964752	15	28882											
CENPO	79172	genome.wustl.edu	37	chr2	25037312	25037312	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgagcaagaagcattggAagagaaattggaaaatgtga	19	7	12	3	0	0	4	0	2	0	2	0	7	0	6	0	2	2	2	0	2	7	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:25037312A>C	ENST00000380834.2	+	4	709	c.284A>C	c.(283-285)gAa>gCa	p.E95A	CENPO_ENST00000473706.1_Missense_Mutation_p.E89A|CENPO_ENST00000260662.1_Missense_Mutation_p.E95A			Q9BU64	CENPO_HUMAN	centromere protein O	95					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAAGCATTGGAAGAGAAATTG	0.388																																																	0													203	202	202					2																	25037312		2203	4300	6503	SO:0001583	missense	0			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.284A>C	2.37:g.25037312A>C	ENSP00000370214:p.Glu95Ala		B2RDC0|D6W536|Q53T55|Q96JV3	Missense_Mutation	SNP	pfam_CENP-O	p.E95A	ENST00000380834.2	37	c.284	CCDS1714.1	2	.	.	.	.	.	.	.	.	.	.	A	11.69	1.714521	0.30413	.	.	ENSG00000138092	ENST00000380834;ENST00000473706;ENST00000260662	T;T;T	0.49139	0.79;0.79;0.79	5.28	4.12	0.48240	.	0.352201	0.29218	N	0.012791	T	0.42017	0.1184	L	0.54323	1.7	0.09310	N	1	P;P	0.45531	0.86;0.657	B;B	0.41510	0.359;0.197	T	0.41324	-0.9515	10	0.72032	D	0.01	-10.7162	7.8498	0.29448	0.9078:0.0:0.0922:0.0	.	89;95	Q9BU64-2;Q9BU64	.;CENPO_HUMAN	A	95;89;95	ENSP00000370214:E95A;ENSP00000417787:E89A;ENSP00000260662:E95A	ENSP00000260662:E95A	E	+	2	0	CENPO	24890816	0.559000	0.26562	0.018000	0.16275	0.026000	0.11368	2.544000	0.45761	1.012000	0.39366	0.528000	0.53228	GAA	CENPO	-	NULL	ENSG00000138092		0.388	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	-	0	62	0	A	NM_024322		25037312	1	tier1	-	no_errors	ENST00000260662	ensembl	human	known	74_37	missense	51.85	26	28	SNP	0.076	C	C	25037312	A	C	25037312	3	2	104	1	0	0	0	0	1	0	0	0	3246	246	9	4	294	4	CENPO	2	25037312	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	3802691	25037312	218162061	16	28883											
MTIF2	4528	genome.wustl.edu	37	chr2	55490950	55490950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttgcctataaatagtGtgaaatcgtagcaagttctc	12	13	9	7	1	1	1	0	1	1	0	3	1	1	1	1	0	3	5	1	0	7	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:55490950G>T	ENST00000263629.4	-	4	360	c.45C>A	c.(43-45)caC>caA	p.H15Q	MTIF2_ENST00000403721.1_Missense_Mutation_p.H15Q|MTIF2_ENST00000394600.3_Missense_Mutation_p.H15Q|MTIF2_ENST00000446660.1_5'UTR	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	15					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TATAAATAGTGTGAAATCGTA	0.393																																																	0													202	193	196					2																	55490950		2203	4300	6503	SO:0001583	missense	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.45C>A	2.37:g.55490950G>T	ENSP00000263629:p.His15Gln		D6W5D0	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom	p.H15Q	ENST00000263629.4	37	c.45	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	G	6.568	0.473187	0.12461	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000535023;ENST00000366137;ENST00000441307;ENST00000404297;ENST00000420637	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.45;0.43;0.42	5.18	-0.0154	0.13976	.	0.355769	0.27522	N	0.018993	T	0.37183	0.0994	L	0.56769	1.78	0.09310	N	1	B	0.32245	0.361	B	0.24006	0.05	T	0.15636	-1.0430	10	0.22109	T	0.4	0.0458	5.7261	0.18015	0.4148:0.0:0.4622:0.123	.	15	P46199	IF2M_HUMAN	Q	15	ENSP00000384481:H15Q;ENSP00000263629:H15Q;ENSP00000378099:H15Q;ENSP00000393337:H15Q;ENSP00000388640:H15Q;ENSP00000383880:H15Q	ENSP00000263629:H15Q	H	-	3	2	MTIF2	55344454	0.001000	0.12720	0.055000	0.19348	0.754000	0.42855	0.101000	0.15251	-0.003000	0.14444	0.555000	0.69702	CAC	MTIF2	-	NULL	ENSG00000085760		0.393	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0	33	0	G	NM_002453		55490950	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.008	T	T	55490950	G	T	55490950	3	4	104	1	0	0	0	0	1	0	0	0	9972	1368	48	3	2190	3	MTIF2	2	55490950	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	30453638	55490950	187708423	17	28884											
MXD1	4084	genome.wustl.edu	37	chr2	70148870	70148870	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgttccctctttcagatCaactcacaatgaaatggaga	13	13	6	9	0	4	3	3	1	1	2	5	4	5	3	1	1	1	1	1	1	4	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:70148870C>G	ENST00000264444.2	+	3	436	c.176C>G	c.(175-177)tCa>tGa	p.S59*	MXD1_ENST00000540449.1_Intron	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	59	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCTTTCAGATCAACTCACAAT	0.378																																																	0													100	91	94					2																	70148870		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1896.1, CCDS56123.1	2p13-p12	2010-07-07		2005-02-11	ENSG00000059728	ENSG00000059728		"MAX dimerization proteins", "Basic helix-loop-helix proteins"	6761	protein-coding gene	gene with protein product		600021		MAD		7829091	Standard	NM_002357		Approved	MAD1, bHLHc58	uc002sfy.3	Q05195	OTTHUMG00000129646	ENST00000264444.2:c.176C>G	2.37:g.70148870C>G	ENSP00000264444:p.Ser59*		B2R6V8|B7ZLI6|D6W5G2|Q6FI41	Nonsense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.S59*	ENST00000264444.2	37	c.176	CCDS1896.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.474388	0.97594	.	.	ENSG00000059728	ENST00000435990;ENST00000264444	.	.	.	5.03	5.03	0.67393	.	0.073236	0.56097	D	0.000027	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2477	0.82454	0.0:1.0:0.0:0.0	.	.	.	.	X	27;59	.	ENSP00000264444:S59X	S	+	2	0	MXD1	70002374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.940000	0.63533	2.777000	0.95525	0.591000	0.81541	TCA	MXD1	-	pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom	ENSG00000059728		0.378	MXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXD1	HGNC	protein_coding	OTTHUMT00000251845.3	-	0	77	0	C	NM_002357		70148870	1	tier1	-	no_errors	ENST00000264444	ensembl	human	known	74_37	nonsense	6.52	85	6	SNP	1.000	G	G	70148870	C	G	70148870	4	3	104	1	0	0	0	0	0	1	0	0	10037	838	29	5	186	5	MXD1	2	70148870	Nonsense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	14657920	70148870	173050503	18	28885											
DYSF	8291	genome.wustl.edu	37	chr2	71896314	71896314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcctcacgggggagaaGatgagcgacatttatgtgaa	12	8	14	7	2	1	5	1	3	0	2	1	7	1	5	1	2	2	0	1	2	3	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:71896314G>T	ENST00000258104.3	+	49	5779	c.5502G>T	c.(5500-5502)aaG>aaT	p.K1834N	DYSF_ENST00000413539.2_Missense_Mutation_p.K1865N|DYSF_ENST00000409744.1_Missense_Mutation_p.K1842N|DYSF_ENST00000394120.2_Missense_Mutation_p.K1835N|DYSF_ENST00000410020.3_Missense_Mutation_p.K1873N|DYSF_ENST00000409582.3_Missense_Mutation_p.K1872N|DYSF_ENST00000429174.2_Missense_Mutation_p.K1855N|DYSF_ENST00000410041.1_Missense_Mutation_p.K1852N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.K1856N|DYSF_ENST00000409762.1_Missense_Mutation_p.K1851N|DYSF_ENST00000409651.1_Missense_Mutation_p.K1866N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1834	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGGGGAGAAGATGAGCGACA	0.552																																																	0													60	54	56					2																	71896314		2203	4300	6503	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5502G>T	2.37:g.71896314G>T	ENSP00000258104:p.Lys1834Asn		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.K1865N	ENST00000258104.3	37	c.5595	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474257	0.63737	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.38	4.5	0.54988	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.094256	0.85682	D	0.000000	D	0.88325	0.6406	L	0.39514	1.22	0.50171	D	0.999852	B;D;D;D;D;B;B;B;B;D;B;B;D;D;D	0.60575	0.05;0.968;0.985;0.985;0.985;0.017;0.017;0.017;0.086;0.985;0.079;0.22;0.971;0.985;0.988	B;P;P;P;P;B;B;B;B;P;B;B;P;P;D	0.65323	0.058;0.856;0.892;0.892;0.892;0.051;0.034;0.051;0.051;0.892;0.034;0.217;0.892;0.892;0.934	D	0.86469	0.1784	10	0.37606	T	0.19	-34.1086	9.9393	0.41570	0.0941:0.0:0.9059:0.0	.	598;1866;1873;1856;1821;1852;1842;1851;1841;1865;1872;1855;1820;1835;1834	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	N	1865;1851;1872;1855;1834;1866;1835;1842;1856;1873;1852	ENSP00000407046:K1865N;ENSP00000387137:K1851N;ENSP00000386547:K1872N;ENSP00000398305:K1855N;ENSP00000258104:K1834N;ENSP00000386683:K1866N;ENSP00000377678:K1835N;ENSP00000386285:K1842N;ENSP00000386512:K1856N;ENSP00000386881:K1873N;ENSP00000386617:K1852N	ENSP00000258104:K1834N	K	+	3	2	DYSF	71749822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.797000	0.47877	1.273000	0.44346	0.650000	0.86243	AAG	DYSF	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000135636		0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	46	0	G	NM_003494		71896314	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	missense	25.00	27	9	SNP	1.000	T	T	71896314	G	T	71896314	3	4	104	1	0	0	0	0	1	0	0	0	4873	933	33	3	5955	3	DYSF	2	71896314	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	1747444	71896314	171303059	19	28886											
LMAN2L	81562	genome.wustl.edu	37	chr2	97373133	97373133	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggcggcagtggagctgTcactgaggaagcaagagaga	12	4	18	7	1	1	3	1	1	0	2	1	6	1	5	0	5	2	3	0	5	2	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:97373133T>A	ENST00000264963.4	-	8	929	c.907A>T	c.(907-909)Aca>Tca	p.T303S	LMAN2L_ENST00000426463.2_Missense_Mutation_p.T169S|LMAN2L_ENST00000534882.1_Missense_Mutation_p.T158S|LMAN2L_ENST00000537039.1_Missense_Mutation_p.T165S|LMAN2L_ENST00000377079.4_Missense_Mutation_p.T314S|FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	303					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGTGGAGCTGTCACTGAGGAA	0.512																																																	0													28	26	27					2																	97373133		2202	4299	6501	SO:0001583	missense	0			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.907A>T	2.37:g.97373133T>A	ENSP00000264963:p.Thr303Ser		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.T314S	ENST00000264963.4	37	c.940	CCDS2023.1	2	.	.	.	.	.	.	.	.	.	.	T	9.347	1.064511	0.20067	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.76578	0.98;0.99;-1.03;-1.01;-1.02	5.44	4.2	0.49525	.	1.392810	0.03994	N	0.295345	T	0.59280	0.2182	N	0.14661	0.345	0.39900	D	0.973884	B;B;B;B;B	0.10296	0.001;0.0;0.001;0.003;0.001	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.002	T	0.60161	-0.7317	10	0.09590	T	0.72	.	3.3012	0.06984	0.1762:0.1617:0.0:0.6622	.	158;176;169;314;303	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	S	303;314;169;165;158	ENSP00000264963:T303S;ENSP00000366280:T314S;ENSP00000396391:T169S;ENSP00000441701:T165S;ENSP00000438501:T158S	ENSP00000264963:T303S	T	-	1	0	LMAN2L	96736860	0.998000	0.40836	1.000000	0.80357	0.959000	0.62525	1.412000	0.34714	2.183000	0.69458	0.533000	0.62120	ACA	LMAN2L	-	NULL	ENSG00000114988		0.512	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1	-	0	29	0	T	NM_030805		97373133	-1	tier1	-	no_errors	ENST00000377079	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.953	A	A	97373133	T	A	97373133	3	1	104	1	0	0	0	0	1	0	0	0	8869	1667	58	5	143	5	LMAN2L	2	97373133	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	25476819	97373133	145826240	20	28887											
RGPD4	285190	genome.wustl.edu	37	chr2	108489085	108489085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctccaaagtttgtatttgGttcagagtctgttaaaagaa	12	15	8	6	0	2	2	1	0	1	2	4	2	4	2	2	1	0	4	2	1	5	5	rs572730041	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:108489085G>T	ENST00000408999.3	+	20	4702	c.4625G>T	c.(4624-4626)gGt>gTt	p.G1542V	RGPD4_ENST00000354986.4_Missense_Mutation_p.G1542V	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1542					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTTGTATTTGGTTCAGAGTCT	0.373													N|||	34	0.00678914	0.0227	0.0029	5008	,	,		24830	0.002		0	False		,,,				2504	0																0													28	23	25					2																	108489085		691	1578	2269	SO:0001583	missense	0			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"Tetratricopeptide (TTC) repeat domain containing"	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4625G>T	2.37:g.108489085G>T	ENSP00000386810:p.Gly1542Val		B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.G1542V	ENST00000408999.3	37	c.4625	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	10.12	1.263996	0.23136	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.45276	0.9;0.9	2.33	2.33	0.28932	.	.	.	.	.	T	0.56630	0.1998	M	0.66939	2.045	0.53688	D	0.999971	D	0.89917	1.0	D	0.71656	0.974	T	0.54344	-0.8308	9	0.27082	T	0.32	-14.3465	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1542	Q7Z3J3	RGPD4_HUMAN	V	1542	ENSP00000347081:G1542V;ENSP00000386810:G1542V	ENSP00000347081:G1542V	G	+	2	0	RGPD4	107855517	1.000000	0.71417	0.998000	0.56505	0.166000	0.22503	9.139000	0.94554	1.303000	0.44873	0.162000	0.16502	GGT	RGPD4	-	NULL	ENSG00000196862		0.373	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	-	0	30	0	G	XM_496581		108489085	1	tier1	-	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	T	T	108489085	G	T	108489085	3	4	104	1	0	0	0	0	1	0	0	0	13333	1261	44	3	4703	3	RGPD4	2	108489085	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	11115952	108489085	134710288	21	28888											
UGGT1	56886	genome.wustl.edu	37	chr2	128872722	128872722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaggagcctgtttacCtctctggctatggcgtggaa	8	10	13	10	1	1	0	0	0	1	0	2	3	1	3	3	5	2	2	3	5	4	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:128872722C>T	ENST00000259253.6	+	7	768	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	UGGT1_ENST00000375990.3_Missense_Mutation_p.L217F	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	241					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCTGTTTACCTCTCTGGCTA	0.448																																																	0													106	95	98					2																	128872722		2203	4300	6503	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.721C>T	2.37:g.128872722C>T	ENSP00000259253:p.Leu241Phe		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.L241F	ENST00000259253.6	37	c.721	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.231156	0.95207	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.23147	1.94;1.92	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69764	-0.5057	10	0.62326	D	0.03	.	20.8599	0.99761	0.0:1.0:0.0:0.0	.	217;241	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	F	217;241	ENSP00000365158:L217F;ENSP00000259253:L241F	ENSP00000259253:L241F	L	+	1	0	UGGT1	128589192	1.000000	0.71417	0.993000	0.49108	0.914000	0.54420	6.848000	0.75409	2.937000	0.99478	0.650000	0.86243	CTC	UGGT1	-	NULL	ENSG00000136731		0.448	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	61	0	C	NM_020120		128872722	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	53.52	33	38	SNP	1.000	T	T	128872722	C	T	128872722	3	4	104	1	0	0	0	0	1	0	0	0	16990	681	24	3	747	3	UGGT1	2	128872722	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	20383637	128872722	114326651	22	28889											
THSD7B	80731	genome.wustl.edu	37	chr2	138320891	138320891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgagctgaggtccctgcGctgtggaggaggaacacaat	11	7	14	9	1	0	2	0	2	0	0	1	5	1	5	1	4	3	2	1	4	3	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:138320891G>T	ENST00000409968.1	+	16	3417	c.3239G>T	c.(3238-3240)cGc>cTc	p.R1080L	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1052L|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1083L			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1082	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGTCCCTGCGCTGTGGAGGA	0.423																																																	0													96	89	91					2																	138320891		1958	4148	6106	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3239G>T	2.37:g.138320891G>T	ENSP00000387145:p.Arg1080Leu			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R1083L	ENST00000409968.1	37	c.3248		2	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632643	0.29068	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.60424	0.19;0.19;0.19	5.41	3.47	0.39725	.	0.295924	0.38837	N	0.001543	T	0.32526	0.0832	N	0.13003	0.285	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12268	-1.0554	10	0.28530	T	0.3	.	3.2826	0.06921	0.0828:0.273:0.3827:0.2615	.	1052	C9JKN6	.	L	1080;1083;1052	ENSP00000387145:R1080L;ENSP00000272643:R1083L;ENSP00000413841:R1052L	ENSP00000272643:R1083L	R	+	2	0	THSD7B	138037361	0.975000	0.34042	1.000000	0.80357	0.984000	0.73092	1.068000	0.30629	1.420000	0.47138	0.585000	0.79938	CGC	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.423	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	-	0	35	0	G	XM_046570.9		138320891	1	tier1	-	no_errors	ENST00000272643	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.983	T	T	138320891	G	T	138320891	3	4	104	1	0	0	0	0	1	0	0	0	15927	1087	38	2	3209	2	THSD7B	2	138320891	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	9448169	138320891	104878482	23	28890											
TANK	10010	genome.wustl.edu	37	chr2	162036193	162036193	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggataaaaacattggcgAgcaactcaataaagcgtatg	18	8	9	6	2	1	0	1	0	0	0	1	2	1	1	0	2	4	2	0	2	9	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:162036193A>T	ENST00000392749.2	+	2	259	c.20A>T	c.(19-21)gAg>gTg	p.E7V	TANK_ENST00000406287.1_Missense_Mutation_p.E65V|TANK_ENST00000405852.1_Missense_Mutation_p.E7V|TANK_ENST00000259075.2_Missense_Mutation_p.E7V|TANK_ENST00000457476.1_Missense_Mutation_p.E7V|TANK_ENST00000402568.1_Missense_Mutation_p.E65V|TANK_ENST00000403609.1_Missense_Mutation_p.E7V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	7					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AACATTGGCGAGCAACTCAAT	0.388																																																	0													122	112	115					2																	162036193		2203	4300	6503	SO:0001583	missense	0			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.20A>T	2.37:g.162036193A>T	ENSP00000376505:p.Glu7Val		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.E7V	ENST00000392749.2	37	c.20	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406447	0.83230	.	.	ENSG00000136560	ENST00000259075;ENST00000432002;ENST00000457476;ENST00000392749;ENST00000440506;ENST00000429217;ENST00000406287;ENST00000402568;ENST00000405852;ENST00000456358;ENST00000403609	T;T;T;T;T	0.53423	1.09;1.09;2.55;0.62;2.55	6.04	6.04	0.98038	.	0.106326	0.64402	D	0.000006	T	0.60958	0.2309	L	0.36672	1.1	0.45554	D	0.998503	D;D	0.89917	1.0;1.0	D;D	0.83275	0.975;0.996	T	0.63563	-0.6609	10	0.87932	D	0	-8.5124	16.2378	0.82389	1.0:0.0:0.0:0.0	.	7;7	Q92844;Q7Z4J6	TANK_HUMAN;.	V	7;7;7;7;7;7;65;65;7;33;7	ENSP00000259075:E7V;ENSP00000376505:E7V;ENSP00000384492:E65V;ENSP00000385487:E7V;ENSP00000392776:E33V	ENSP00000259075:E7V	E	+	2	0	TANK	161744439	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	7.042000	0.76565	2.317000	0.78254	0.459000	0.35465	GAG	TANK	-	NULL	ENSG00000136560		0.388	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	-	0	34	0	A	NM_133484		162036193	1	tier1	-	no_errors	ENST00000259075	ensembl	human	known	74_37	missense	48.78	21	20	SNP	1.000	T	T	162036193	A	T	162036193	3	4	104	1	0	0	0	0	1	0	0	0	15593	304	11	5	22	5	TANK	2	162036193	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	23715302	162036193	81163180	24	28891											
NFE2L2	4780	genome.wustl.edu	37	chr2	178098945	178098945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actgaagtcaaatacttctcGacttactccaagatctatat	14	13	4	10	1	3	2	1	1	2	1	5	3	4	2	1	0	2	0	1	0	7	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:178098945G>C	ENST00000397062.3	-	2	654	c.100C>G	c.(100-102)Cga>Gga	p.R34G	NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34G(4)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AATACTTCTCGACTTACTCCA	0.368			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	4	Substitution - Missense(4)	lung(2)|endometrium(2)											75	68	70					2																	178098945		1847	4103	5950	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"basic leucine zipper proteins"	7782	protein-coding gene	gene with protein product	"NF-E2-related factor 2"	600492	"nuclear factor (erythroid-derived 2)-like 2"			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.100C>G	2.37:g.178098945G>C	ENSP00000380252:p.Arg34Gly		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.R34G	ENST00000397062.3	37	c.100	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190279	0.58017	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.78	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.86740	2.835	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.995;0.998;0.998	T	0.66862	-0.5816	10	0.72032	D	0.01	.	14.8506	0.70295	0.0:0.0:0.6243:0.3757	.	18;18;18;34	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	G	18;34;18;18;18;18;18	ENSP00000380253:R18G;ENSP00000380252:R34G;ENSP00000411575:R18G;ENSP00000391590:R18G;ENSP00000400073:R18G;ENSP00000412191:R18G;ENSP00000410015:R18G	ENSP00000380252:R34G	R	-	1	2	NFE2L2	177807191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.376000	0.73141	0.300000	0.22699	0.563000	0.77884	CGA	NFE2L2	-	NULL	ENSG00000116044		0.368	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0	48	0	G	NM_006164		178098945	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	52.63	18	20	SNP	1.000	C	C	178098945	G	C	178098945	3	2	104	1	0	0	0	0	1	0	0	0	10407	1066	37	5	1733	5	NFE2L2	2	178098945	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	16062752	178098945	65100428	25	28892											
FAM126B	285172	genome.wustl.edu	37	chr2	201846144	201846144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtatcgattagcattgttgGctgctaaattagtacctccc	10	14	8	9	1	0	0	0	0	0	0	2	1	1	0	2	1	3	6	2	1	6	7			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:201846144G>T	ENST00000418596.3	-	12	1629	c.1442C>A	c.(1441-1443)gCc>gAc	p.A481D	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	481						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGCATTGTTGGCTGCTAAATT	0.502																																																	0													123	95	105					2																	201846144		2203	4300	6503	SO:0001583	missense	0			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1442C>A	2.37:g.201846144G>T	ENSP00000393667:p.Ala481Asp		B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	pfam_Hyccin	p.A481D	ENST00000418596.3	37	c.1442	CCDS2335.1	2	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857334	0.17106	.	.	ENSG00000155744	ENST00000418596	T	0.80033	-1.33	5.86	1.65	0.23941	.	0.597065	0.17746	N	0.163392	T	0.73984	0.3657	L	0.29908	0.895	0.34934	D	0.749666	B;B	0.14438	0.01;0.01	B;B	0.18263	0.021;0.021	T	0.72297	-0.4335	10	0.66056	D	0.02	-0.4515	19.8299	0.96631	0.0:0.4218:0.5782:0.0	.	287;481	B3KUG1;Q8IXS8	.;F126B_HUMAN	D	481	ENSP00000393667:A481D	ENSP00000393667:A481D	A	-	2	0	FAM126B	201554389	0.151000	0.22747	0.607000	0.28956	0.874000	0.50279	1.451000	0.35145	0.364000	0.24374	-0.913000	0.02753	GCC	FAM126B	-	NULL	ENSG00000155744		0.502	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	-	0	32	0	G	NM_173822		201846144	-1	tier1	-	no_errors	ENST00000418596	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.661	T	T	201846144	G	T	201846144	3	4	104	1	0	0	0	0	1	0	0	0	5449	1203	42	3	154	3	FAM126B	2	201846144	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	23747199	201846144	41353229	26	28893											
AGAP1	116987	genome.wustl.edu	37	chr2	236649666	236649666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgctgctgatcagaGatgaagggggccccccggag	8	7	15	11	1	2	3	1	2	1	1	2	5	2	4	3	3	2	3	3	3	2	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr2:236649666G>T	ENST00000304032.8	+	4	950	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	AGAP1_ENST00000409538.1_Missense_Mutation_p.D389Y|AGAP1_ENST00000409457.1_Missense_Mutation_p.D124Y|AGAP1_ENST00000336665.5_Missense_Mutation_p.D124Y	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	124	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCTGATCAGAGATGAAGGGGG	0.488																																																	0													96	93	94					2																	236649666		2203	4300	6503	SO:0001583	missense	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16922	protein-coding gene	gene with protein product		608651	"centaurin, gamma 2"	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.370G>T	2.37:g.236649666G>T	ENSP00000307634:p.Asp124Tyr		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.D124Y	ENST00000304032.8	37	c.370	CCDS33408.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743257	0.89663	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.8	4.8	0.61643	Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	T	0.78515	0.4295	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87557	0.2469	10	0.87932	D	0	.	18.2419	0.89970	0.0:0.0:1.0:0.0	.	124;124	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Y	124;124;124;71;389	ENSP00000387174:D124Y;ENSP00000307634:D124Y;ENSP00000338378:D124Y;ENSP00000385492:D71Y;ENSP00000386897:D389Y	ENSP00000307634:D124Y	D	+	1	0	AGAP1	236314405	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	9.687000	0.98667	2.357000	0.79964	0.561000	0.74099	GAT	AGAP1	-	pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	ENSG00000157985		0.488	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2	-	0	44	0	G	NM_014914		236649666	1	tier1	-	no_errors	ENST00000304032	ensembl	human	known	74_37	missense	43.55	35	27	SNP	1.000	T	T	236649666	G	T	236649666	3	4	104	1	0	0	0	0	1	0	0	0	366	942	33	3	384	3	AGAP1	2	236649666	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	34803522	236649666	6549707	27	28894											
OXNAD1	92106	genome.wustl.edu	37	chr3	16312569	16312569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcactttgcgccaccttaCtctaaccaggtgagtcatta	10	11	7	13	1	2	1	1	1	1	0	2	1	2	1	3	1	4	1	3	1	3	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:16312569C>T	ENST00000285083.5	+	3	575	c.110C>T	c.(109-111)aCt>aTt	p.T37I	OXNAD1_ENST00000544043.1_Missense_Mutation_p.T55I|OXNAD1_ENST00000606098.1_Missense_Mutation_p.T37I|OXNAD1_ENST00000605932.1_Missense_Mutation_p.T37I|OXNAD1_ENST00000435829.2_Missense_Mutation_p.T55I	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	37						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						CGCCACCTTACTCTAACCAGG	0.488																																																	0													147	138	141					3																	16312569		2203	4300	6503	SO:0001583	missense	0			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.110C>T	3.37:g.16312569C>T	ENSP00000285083:p.Thr37Ile		Q2HYC7|Q59FA4	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.T55I	ENST00000285083.5	37	c.164	CCDS2630.1	3	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521710	0.64747	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.25085	2.18;1.82;2.16	4.73	4.73	0.59995	.	0.391553	0.29537	N	0.011871	T	0.28366	0.0701	M	0.68952	2.095	0.20489	N	0.999892	P;B	0.40107	0.703;0.18	B;B	0.37047	0.24;0.052	T	0.31052	-0.9957	10	0.52906	T	0.07	-1.6047	13.4233	0.61011	0.0:1.0:0.0:0.0	.	55;37	F5H620;Q96HP4	.;OXND1_HUMAN	I	37;37;55	ENSP00000285083:T37I;ENSP00000389872:T37I;ENSP00000437967:T55I	ENSP00000285083:T37I	T	+	2	0	OXNAD1	16287573	0.015000	0.18098	0.021000	0.16686	0.143000	0.21401	3.336000	0.52113	2.619000	0.88677	0.650000	0.86243	ACT	OXNAD1	-	NULL	ENSG00000154814		0.488	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1	-	0	50	0	C	NM_138381		16312569	1	tier1	-	no_errors	ENST00000544043	ensembl	human	known	74_37	missense	78.26	5	18	SNP	0.033	T	T	16312569	C	T	16312569	3	4	104	1	0	0	0	0	1	0	0	0	11372	565	20	3	112	3	OXNAD1	3	16312569	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09		16312569	181709861	28	28895											
ZNF385D	79750	genome.wustl.edu	37	chr3	21552422	21552422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtctttgcgctgtcctTggcagttacagatttctgct	5	16	11	9	1	2	1	0	0	2	1	3	1	3	1	1	2	3	5	1	2	2	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:21552422T>C	ENST00000281523.2	-	4	888	c.370A>G	c.(370-372)Aag>Gag	p.K124E	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	124						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCGCTGTCCTTGGCAGTTACA	0.453																																																	0													373	302	326					3																	21552422		2203	4300	6503	SO:0001583	missense	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"zinc finger protein 659"	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.370A>G	3.37:g.21552422T>C	ENSP00000281523:p.Lys124Glu			Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.K124E	ENST00000281523.2	37	c.370	CCDS2636.1	3	.	.	.	.	.	.	.	.	.	.	t	12.31	1.898187	0.33535	.	.	ENSG00000151789	ENST00000281523	T	0.31247	1.5	5.56	5.56	0.83823	.	0.138597	0.47455	D	0.000236	T	0.22936	0.0554	L	0.29908	0.895	0.32674	N	0.516386	P	0.38827	0.649	B	0.33042	0.157	T	0.27191	-1.0081	10	0.35671	T	0.21	-20.9528	15.7269	0.77766	0.0:0.0:0.0:1.0	.	124	Q9H6B1	Z385D_HUMAN	E	124	ENSP00000281523:K124E	ENSP00000281523:K124E	K	-	1	0	ZNF385D	21527426	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.878000	0.56130	2.114000	0.64651	0.524000	0.50904	AAG	ZNF385D	-	NULL	ENSG00000151789		0.453	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1	-	0	153	0	T	NM_024697		21552422	-1	tier1	-	no_errors	ENST00000281523	ensembl	human	known	74_37	missense	31.87	62	29	SNP	1.000	C	C	21552422	T	C	21552422	3	2	104	1	0	0	0	0	1	0	0	0	17926	1821	63	4	837	4	ZNF385D	3	21552422	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	5239853	21552422	176470008	29	28896											
FBXW12	285231	genome.wustl.edu	37	chr3	48420016	48420016	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatggcccattcctgatGgtaagtgagccctgaattta	11	11	11	8	0	0	3	0	3	0	0	1	4	1	4	3	3	1	1	3	3	4	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:48420016G>A	ENST00000296438.5	+	6	801	c.615G>A	c.(613-615)atG>atA	p.M205I	FBXW12_ENST00000445170.1_Splice_Site_p.M186I|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000436231.1_Splice_Site_p.M48I|FBXW12_ENST00000415155.1_Intron	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	205										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATTCCTGATGGTAAGTGAGC	0.468																																																	0													49	43	45					3																	48420016		2203	4300	6503	SO:0001630	splice_region_variant	0			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"F-boxes / WD-40 domains", "WD repeat domain containing"	20729	protein-coding gene	gene with protein product		609075	"F-box only protein 35", "F-box and WD-40 domain protein 12"	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.615+1G>A	3.37:g.48420016G>A			E9PG36|Q494Y9|Q494Z0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.M205I	ENST00000296438.5	37	c.615	CCDS2764.1	3	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408051	0.42715	.	.	ENSG00000164049	ENST00000458736;ENST00000296438;ENST00000436231;ENST00000445170	T;T;T	0.60797	1.7;0.16;1.7	4.09	2.25	0.28309	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.465379	0.22871	N	0.054623	T	0.39517	0.1081	N	0.25647	0.755	0.54753	D	0.999983	B;B;B	0.19200	0.034;0.034;0.02	B;B;B	0.22601	0.04;0.025;0.018	T	0.25293	-1.0136	10	0.46703	T	0.11	2.8679	5.5768	0.17228	0.2481:0.0:0.7519:0.0	.	104;186;205	E9PCA2;E9PG36;Q6X9E4	.;.;FBW12_HUMAN	I	104;205;48;186	ENSP00000296438:M205I;ENSP00000413866:M48I;ENSP00000406139:M186I	ENSP00000296438:M205I	M	+	3	0	FBXW12	48395020	0.907000	0.30839	0.315000	0.25238	0.414000	0.31173	1.246000	0.32803	1.018000	0.39521	0.650000	0.86243	ATG	FBXW12	-	superfamily_Quino_amine_DH_bsu	ENSG00000164049		0.468	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	-	0	16	0	G	NM_207102	Missense_Mutation	48420016	1	tier1	-	no_errors	ENST00000296438	ensembl	human	known	74_37	missense	78.95	4	15	SNP	0.583	A	A	48420016	G	A	48420016	5	1	104	1	0	0	0	0	0	0	1	0	5787	1362	47	3	670	3	FBXW12	3	48420016	Splice_Site	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	26867594	48420016	149602414	30	28897											
COL7A1	1294	genome.wustl.edu	37	chr3	48615783	48615783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcaggccaggtttgccatCctcgcctggctttccctgtg	4	13	10	14	1	1	0	1	0	0	0	4	0	3	0	5	3	1	2	5	3	0	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:48615783C>A	ENST00000328333.8	-	64	5610	c.5503G>T	c.(5503-5505)Gat>Tat	p.D1835Y	COL7A1_ENST00000454817.1_Missense_Mutation_p.D1835Y|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1835	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGTTTGCCATCCTCGCCTGGC	0.557																																																	0													111	96	101					3																	48615783		2203	4300	6503	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5503G>T	3.37:g.48615783C>A	ENSP00000332371:p.Asp1835Tyr		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1835Y	ENST00000328333.8	37	c.5503	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459349	0.63401	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93426	-3.22;-1.82	5.2	5.2	0.72013	.	0.178262	0.27563	N	0.018810	D	0.96800	0.8955	M	0.85777	2.775	0.43368	D	0.995458	D	0.89917	1.0	D	0.91635	0.999	D	0.96708	0.9523	10	0.54805	T	0.06	.	15.598	0.76602	0.0:1.0:0.0:0.0	.	1835	Q02388	CO7A1_HUMAN	Y	1835	ENSP00000332371:D1835Y;ENSP00000412569:D1835Y	ENSP00000332371:D1835Y	D	-	1	0	COL7A1	48590787	0.995000	0.38212	1.000000	0.80357	0.980000	0.70556	3.310000	0.51911	2.698000	0.92095	0.563000	0.77884	GAT	COL7A1	-	NULL	ENSG00000114270		0.557	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0	41	0	C	NM_000094		48615783	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	missense	75.00	6	18	SNP	1.000	A	A	48615783	C	A	48615783	3	1	104	1	0	0	0	0	1	0	0	0	3711	855	30	3	3551	3	COL7A1	3	48615783	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	195767	48615783	149406647	31	28898											
SEMA3F	6405	genome.wustl.edu	37	chr3	50222050	50222050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaaccttcacgccatCtatgaagtccaccaaggatt	11	10	9	11	1	2	1	1	1	1	0	3	3	3	3	4	3	1	0	4	3	4	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:50222050C>A	ENST00000002829.3	+	13	1743	c.1259C>A	c.(1258-1260)tCt>tAt	p.S420Y	SEMA3F_ENST00000434342.1_Missense_Mutation_p.S389Y|SEMA3F_ENST00000413852.1_Missense_Mutation_p.S321Y	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	420	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTCACGCCATCTATGAAGTCC	0.602																																																	0													82	71	75					3																	50222050		2203	4300	6503	SO:0001583	missense	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10728	protein-coding gene	gene with protein product	"sema IV"	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1259C>A	3.37:g.50222050C>A	ENSP00000002829:p.Ser420Tyr		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.S420Y	ENST00000002829.3	37	c.1259	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566963	0.28003	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	T;T;T	0.22945	1.93;1.93;1.93	5.48	5.48	0.80851	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.094876	0.64402	D	0.000001	T	0.42944	0.1225	L	0.53249	1.67	0.39997	D	0.975113	P;D	0.58970	0.91;0.984	P;D	0.63381	0.752;0.914	T	0.19778	-1.0295	10	0.46703	T	0.11	.	13.6395	0.62241	0.0:0.9236:0.0:0.0764	.	389;420	C9JQ85;Q13275	.;SEM3F_HUMAN	Y	321;420;389	ENSP00000388931:S321Y;ENSP00000002829:S420Y;ENSP00000409859:S389Y	ENSP00000002829:S420Y	S	+	2	0	SEMA3F	50197054	0.968000	0.33430	0.990000	0.47175	0.490000	0.33462	1.766000	0.38491	2.584000	0.87258	0.561000	0.74099	TCT	SEMA3F	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000001617		0.602	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	-	0	55	0	C	NM_004186		50222050	1	tier1	-	no_errors	ENST00000002829	ensembl	human	known	74_37	missense	88.00	3	22	SNP	0.998	A	A	50222050	C	A	50222050	3	1	104	1	0	0	0	0	1	0	0	0	14074	913	32	3	1305	3	SEMA3F	3	50222050	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	1606267	50222050	147800380	32	28899											
ALDH1L1	10840	genome.wustl.edu	37	chr3	125855621	125855621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcacacttccatcggtggGattgatggtctcagaggtct	8	12	11	10	1	3	2	2	1	2	1	6	3	4	3	1	4	0	0	1	4	0	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:125855621G>T	ENST00000393434.2	-	11	1679	c.1330C>A	c.(1330-1332)Ccc>Acc	p.P444T	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.P444T|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.P454T|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.P343T|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.P444T	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	444	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCATCGGTGGGATTGATGGTC	0.627																																																	0													132	116	121					3																	125855621		2197	4298	6495	SO:0001583	missense	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"Aldehyde dehydrogenases"	3978	protein-coding gene	gene with protein product	"cytosolic 10-formyltetrahydrofolate dehydrogenase"	600249	"formyltetrahydrofolate dehydrogenase"	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1330C>A	3.37:g.125855621G>T	ENSP00000377083:p.Pro444Thr		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.P444T	ENST00000393434.2	37	c.1330	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572619	0.45798	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;D	0.87029	1.16;1.16;1.16;1.16;-2.2	3.67	3.67	0.42095	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.234366	0.36002	N	0.002854	D	0.96219	0.8767	H	0.99507	4.6	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.74023	0.954;0.982;0.964	D	0.97247	0.9895	10	0.87932	D	0	.	13.6963	0.62582	0.0:0.0:1.0:0.0	.	343;496;444	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	T	454;444;343;444;444	ENSP00000273450:P454T;ENSP00000420293:P444T;ENSP00000395881:P343T;ENSP00000377083:P444T;ENSP00000377081:P444T	ENSP00000273450:P454T	P	-	1	0	ALDH1L1	127338311	1.000000	0.71417	0.959000	0.39883	0.005000	0.04900	8.735000	0.91549	2.347000	0.79759	0.467000	0.42956	CCC	ALDH1L1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000144908		0.627	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	-	0	38	0	G	NM_012190		125855621	-1	tier1	-	no_errors	ENST00000393434	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	T	T	125855621	G	T	125855621	3	4	104	1	0	0	0	0	1	0	0	0	494	1174	41	3	1430	3	ALDH1L1	3	125855621	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	75633571	125855621	72166809	33	28900											
TMCC1	23023	genome.wustl.edu	37	chr3	129547076	129547076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagatgcttcaagccttggCcaatcacgttaatgttctcc	10	12	8	11	1	3	1	2	0	1	1	4	2	3	1	3	1	2	3	3	1	3	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:129547076C>T	ENST00000393238.3	-	3	486	c.146G>A	c.(145-147)gGc>gAc	p.G49D	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	49						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G49D(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAAGCCTTGGCCAATCACGTT	0.468																																																	2	Substitution - Missense(2)	large_intestine(2)											90	80	84					3																	129547076		2203	4300	6503	SO:0001583	missense	0			AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"Transmembrane and coiled-coil domain containing"	29116	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 1"			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.146G>A	3.37:g.129547076C>T	ENSP00000376930:p.Gly49Asp		A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2	p.G49D	ENST00000393238.3	37	c.146	CCDS33855.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.700406	0.88924	.	.	ENSG00000172765	ENST00000393238	T	0.43688	0.94	5.64	5.64	0.86602	.	0.182306	0.46442	N	0.000289	T	0.65101	0.2659	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65438	-0.6168	10	0.87932	D	0	-16.992	20.1358	0.98028	0.0:1.0:0.0:0.0	.	49	O94876	TMCC1_HUMAN	D	49	ENSP00000376930:G49D	ENSP00000376930:G49D	G	-	2	0	TMCC1	131029766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.834000	0.97654	0.586000	0.80456	GGC	TMCC1	-	NULL	ENSG00000172765		0.468	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCC1	HGNC	protein_coding	OTTHUMT00000356418.2	-	0	46	0	C	NM_015008		129547076	-1	tier1	-	no_errors	ENST00000393238	ensembl	human	known	74_37	missense	14.58	82	14	SNP	1.000	T	T	129547076	C	T	129547076	3	4	104	1	0	0	0	0	1	0	0	0	16039	739	26	3	1831	3	TMCC1	3	129547076	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	3691455	129547076	68475354	34	28901											
DNAJC13	23317	genome.wustl.edu	37	chr3	132169648	132169648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgtagatctctcagattAtcaaggaggattttgtatac	12	16	8	5	0	3	2	2	0	1	2	4	4	3	4	0	2	1	2	0	2	5	7			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:132169648A>G	ENST00000260818.6	+	6	742	c.494A>G	c.(493-495)tAt>tGt	p.Y165C	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	165					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTCTCAGATTATCAAGGAGGA	0.333																																																	0													52	58	56					3																	132169648		2203	4300	6503	SO:0001583	missense	0			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"Heat shock proteins / DNAJ (HSP40)"	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.494A>G	3.37:g.132169648A>G	ENSP00000260818:p.Tyr165Cys		Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain	p.Y165C	ENST00000260818.6	37	c.494	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	A	12.48	1.949392	0.34377	.	.	ENSG00000138246	ENST00000260818	T	0.43688	0.94	5.79	4.64	0.57946	.	0.065353	0.64402	N	0.000006	T	0.35068	0.0919	L	0.42744	1.35	0.58432	D	0.999999	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.08554	-1.0716	10	0.37606	T	0.19	.	11.7252	0.51706	0.9313:0.0:0.0687:0.0	.	165;165	A7E2Y5;O75165	.;DJC13_HUMAN	C	165	ENSP00000260818:Y165C	ENSP00000260818:Y165C	Y	+	2	0	DNAJC13	133652338	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.231000	0.78106	1.020000	0.39573	0.533000	0.62120	TAT	DNAJC13	-	NULL	ENSG00000138246		0.333	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	-	0	19	0	A	NM_015268		132169648	1	tier1	-	no_errors	ENST00000260818	ensembl	human	known	74_37	missense	80.00	11	44	SNP	1.000	G	G	132169648	A	G	132169648	3	3	104	1	0	0	0	0	1	0	0	0	4646	449	16	4	512	4	DNAJC13	3	132169648	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	2622572	132169648	65852782	35	28902											
CCDC39	339829	genome.wustl.edu	37	chr3	180337677	180337677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagggtattttctagagCgtagatttctttttcagctt	8	19	9	5	1	3	3	1	1	2	2	3	3	3	3	0	1	2	3	0	1	4	10			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:180337677C>T	ENST00000442201.2	-	15	2199	c.2080G>A	c.(2080-2082)Gct>Act	p.A694T	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	694					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTCTAGAGCGTAGATTTCT	0.353																																																	0													107	93	97					3																	180337677		1816	4076	5892	SO:0001583	missense	0			BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.2080G>A	3.37:g.180337677C>T	ENSP00000405708:p.Ala694Thr		B4E2H1	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.A694T	ENST00000442201.2	37	c.2080	CCDS46964.1	3	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320155	0.81469	.	.	ENSG00000145075	ENST00000442201	T	0.77620	-1.11	5.55	5.55	0.83447	.	.	.	.	.	D	0.85944	0.5815	M	0.82517	2.595	0.80722	D	1	D	0.65815	0.995	P	0.54312	0.748	D	0.84180	0.0439	9	0.26408	T	0.33	.	19.5017	0.95097	0.0:1.0:0.0:0.0	.	694	Q9UFE4	CCD39_HUMAN	T	694	ENSP00000405708:A694T	ENSP00000405708:A694T	A	-	1	0	CCDC39	181820371	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	6.977000	0.76141	2.596000	0.87737	0.563000	0.77884	GCT	CCDC39	-	superfamily_Prefoldin	ENSG00000145075		0.353	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC39	HGNC	protein_coding	OTTHUMT00000349783.3	-	0	38	0	C	XM_291028		180337677	-1	tier1	-	no_errors	ENST00000442201	ensembl	human	known	74_37	missense	36.25	51	29	SNP	0.999	T	T	180337677	C	T	180337677	3	4	104	1	0	0	0	0	1	0	0	0	2818	768	27	1	769	1	CCDC39	3	180337677	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	48168029	180337677	17684753	36	28903											
ATP13A5	344905	genome.wustl.edu	37	chr3	192997166	192997166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacttacctccattccacGgtatataacttgaaagtcag	12	11	6	12	1	1	1	1	1	0	0	3	1	3	1	4	1	2	1	4	1	5	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr3:192997166G>T	ENST00000342358.4	-	28	3421	c.3304C>A	c.(3304-3306)Cgt>Agt	p.R1102S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1102						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCCATTCCACGGTATATAACT	0.363																																																	0													87	89	89					3																	192997166		2203	4300	6503	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3304C>A	3.37:g.192997166G>T	ENSP00000341942:p.Arg1102Ser		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.R1102S	ENST00000342358.4	37	c.3304	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	0.378	-0.930031	0.02359	.	.	ENSG00000187527	ENST00000342358	D	0.88277	-2.36	5.14	2.16	0.27623	.	0.724007	0.13559	N	0.378951	T	0.76097	0.3940	N	0.22421	0.69	0.09310	N	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.58875	-0.7559	10	0.06236	T	0.91	1.4974	7.0098	0.24855	0.0:0.169:0.4828:0.3483	.	1102	Q4VNC0	AT135_HUMAN	S	1102	ENSP00000341942:R1102S	ENSP00000341942:R1102S	R	-	1	0	ATP13A5	194479860	0.024000	0.19004	0.690000	0.30148	0.278000	0.26855	0.193000	0.17116	1.272000	0.44329	-0.188000	0.12872	CGT	ATP13A5	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000187527		0.363	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1		0	13	0	G	NM_198505		192997166	-1			no_errors	ENST00000342358	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.231	T	T	192997166	G	T	192997166	3	4	104	1	0	0	0	0	1	0	0	0	1128	1116	39	2	362	2	ATP13A5	3	192997166	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	12659489	192997166	5025264	37	28904											
TLR1	7096	genome.wustl.edu	37	chr4	38798859	38798859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttgacaaattctcctaGctcacaggtacattggaatg	12	14	7	8	0	2	1	1	1	1	0	3	2	2	2	1	2	2	2	1	2	4	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr4:38798859G>C	ENST00000502213.2	-	3	1823	c.1594C>G	c.(1594-1596)Cta>Gta	p.L532V	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.L532V			Q15399	TLR1_HUMAN	toll-like receptor 1	532	LRRCT.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AATTCTCCTAGCTCACAGGTA	0.433																																					GBM(5;216 373 40795 46382)												0													267	273	271					4																	38798859		2203	4300	6503	SO:0001583	missense	0			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"CD molecules"	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1594C>G	4.37:g.38798859G>C	ENSP00000421259:p.Leu532Val		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L532V	ENST00000502213.2	37	c.1594	CCDS33973.1	4	.	.	.	.	.	.	.	.	.	.	G	11.05	1.525069	0.27299	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.20200	2.09;2.09	4.75	0.94	0.19513	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.49305	D	0.000146	T	0.45856	0.1363	M	0.86502	2.82	0.44816	D	0.997827	D	0.76494	0.999	D	0.75484	0.986	T	0.42032	-0.9475	10	0.87932	D	0	.	8.8946	0.35455	0.4754:0.0:0.5246:0.0	.	532	Q15399	TLR1_HUMAN	V	532	ENSP00000354932:L532V;ENSP00000421259:L532V	ENSP00000354932:L532V	L	-	1	2	TLR1	38475254	0.480000	0.25933	0.930000	0.37139	0.395000	0.30598	0.845000	0.27668	0.031000	0.15407	0.650000	0.86243	CTA	TLR1	-	pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C	ENSG00000174125		0.433	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR1	HGNC	protein_coding	OTTHUMT00000360510.3	-	0	83	0	G			38798859	-1	tier1	-	no_errors	ENST00000308979	ensembl	human	known	74_37	missense	77.91	19	67	SNP	0.861	C	C	38798859	G	C	38798859	3	2	104	1	0	0	0	0	1	0	0	0	15996	962	34	5	770	5	TLR1	4	38798859	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		38798859	152355417	38	28905											
FRYL	285527	genome.wustl.edu	37	chr4	48555255	48555255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgacagaagggattttaTagctggaagtgatgcgataa	14	10	14	3	1	0	3	0	2	0	1	0	6	0	5	0	3	2	1	0	3	5	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr4:48555255T>A	ENST00000503238.1	-	33	4411	c.4412A>T	c.(4411-4413)tAt>tTt	p.Y1471F	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.Y1471F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.Y1471F|FRYL_ENST00000358350.4_Missense_Mutation_p.Y1471F			O94915	FRYL_HUMAN	FRY-like	1471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGGGATTTTATAGCTGGAAGT	0.443																																																	0													91	91	91					4																	48555255		1887	4124	6011	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4412A>T	4.37:g.48555255T>A	ENSP00000426064:p.Tyr1471Phe		O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Y1471F	ENST00000503238.1	37	c.4412	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	T	7.383	0.629203	0.14257	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.42513	1.97;1.97;1.97;0.97	6.06	-1.72	0.08107	Armadillo-type fold (1);	0.298284	0.38605	N	0.001633	T	0.20170	0.0485	N	0.22421	0.69	0.58432	D	0.999999	B;B;B;B	0.31413	0.322;0.0;0.0;0.0	B;B;B;B	0.31016	0.123;0.002;0.004;0.003	T	0.12760	-1.0535	10	0.10902	T	0.67	.	6.9252	0.24412	0.1093:0.3887:0.0:0.502	.	1471;302;1471;1471	F2Z2S2;Q6ZR29;O94915;F5GX82	.;.;FRYL_HUMAN;.	F	1471	ENSP00000426064:Y1471F;ENSP00000351113:Y1471F;ENSP00000441114:Y1471F;ENSP00000421584:Y1471F	ENSP00000351113:Y1471F	Y	-	2	0	FRYL	48250012	0.999000	0.42202	0.020000	0.16555	0.462000	0.32619	2.012000	0.40932	-0.482000	0.06782	-0.408000	0.06270	TAT	FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.443	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0	34	0	T			48555255	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	missense	72.00	7	18	SNP	0.234	A	A	48555255	T	A	48555255	3	1	104	1	0	0	0	0	1	0	0	0	6088	1406	49	5	4745	5	FRYL	4	48555255	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	9756396	48555255	142599021	39	28906											
TECRL	253017	genome.wustl.edu	37	chr4	65145912	65145912	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcatcagaagtgtaaaaaTtccaactagaagaaaaaaga	22	7	6	6	0	2	4	2	0	0	4	3	4	3	4	1	0	1	1	1	0	10	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr4:65145912T>C	ENST00000381210.3	-	12	1080	c.970A>G	c.(970-972)Att>Gtt	p.I324V	TECRL_ENST00000507440.1_Intron	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	324					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.I324F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGTGTAAAAATTCCAACTAGA	0.274																																																	1	Substitution - Missense(1)	large_intestine(1)											29	30	30					4																	65145912		2175	4239	6414	SO:0001583	missense	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.970A>G	4.37:g.65145912T>C	ENSP00000370607:p.Ile324Val			Missense_Mutation	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.I324V	ENST00000381210.3	37	c.970	CCDS33990.1	4	.	.	.	.	.	.	.	.	.	.	T	9.948	1.219316	0.22373	.	.	ENSG00000205678	ENST00000381210	T	0.27557	1.66	5.09	1.37	0.22104	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.311884	0.34932	N	0.003578	T	0.14960	0.0361	N	0.20685	0.6	0.33659	D	0.609403	B	0.06786	0.001	B	0.11329	0.006	T	0.21690	-1.0238	10	0.14656	T	0.56	-11.881	6.2514	0.20848	0.0:0.3002:0.0:0.6998	.	324	Q5HYJ1	TECRL_HUMAN	V	324	ENSP00000370607:I324V	ENSP00000370607:I324V	I	-	1	0	TECRL	64828507	0.150000	0.22732	0.896000	0.35187	0.998000	0.95712	0.186000	0.16978	0.364000	0.24374	0.528000	0.53228	ATT	TECRL	-	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	ENSG00000205678		0.274	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	31	0	T	NM_001010874		65145912	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	missense	55.56	12	15	SNP	0.777	C	C	65145912	T	C	65145912	3	2	104	1	0	0	0	0	1	0	0	0	15793	1493	52	4	125	4	TECRL	4	65145912	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	16590657	65145912	126008364	40	28907											
HERC3	8916	genome.wustl.edu	37	chr4	89601387	89601387	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtggttttcagacacGgtaagtaagtggtgtcacaa	10	13	11	7	1	3	1	2	0	1	1	3	1	3	1	0	3	0	3	0	3	3	5	rs377674381		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr4:89601387G>T	ENST00000402738.1	+	20	2579	c.2340G>T	c.(2338-2340)acG>acT	p.T780T	HERC3_ENST00000264345.3_Splice_Site_p.T780T|HERC3_ENST00000543130.1_Splice_Site_p.T224T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	780					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T780T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTTCAGACACGGTAAGTAAGT	0.333																																																	1	Substitution - coding silent(1)	prostate(1)											80	85	83					4																	89601387		2202	4300	6502	SO:0001630	splice_region_variant	0			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"hect domain and RLD 3"			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2340+1G>T	4.37:g.89601387G>T			A8K1S5|Q8IXX3	Silent	SNP	pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.T780	ENST00000402738.1	37	c.2340	CCDS34028.1	4																																																																																			HERC3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000138641		0.333	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	HGNC	protein_coding	OTTHUMT00000318081.2		0	34	0	G	NM_014606	Silent	89601387	1			no_errors	ENST00000264345	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.995	T	T	89601387	G	T	89601387	5	4	104	1	0	0	0	0	0	0	1	0	7086	1130	39	2	2410	2	HERC3	4	89601387	Splice_Site	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	24455475	89601387	101552889	41	28908											
INTU	27152	genome.wustl.edu	37	chr4	128584699	128584699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcctcatatcattatgtAtctcacactacagctcgact	11	13	3	14	1	3	0	3	0	1	0	6	1	4	0	1	0	2	2	1	0	4	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr4:128584699A>G	ENST00000335251.6	+	4	1035	c.932A>G	c.(931-933)tAt>tGt	p.Y311C	INTU_ENST00000296461.5_Missense_Mutation_p.Y311C	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	311					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATCATTATGTATCTCACACTA	0.423																																																	0													108	109	109					4																	128584699		2203	4300	6503	SO:0001583	missense	0			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"PDZ domain containing 6", "inturned planar cell polarity effector homolog (Drosophila)"	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.932A>G	4.37:g.128584699A>G	ENSP00000334003:p.Tyr311Cys		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.Y311C	ENST00000335251.6	37	c.932	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	A	13.33	2.203626	0.38905	.	.	ENSG00000164066	ENST00000335251;ENST00000296461	T	0.55760	0.5	4.74	2.29	0.28610	.	0.245252	0.35525	N	0.003159	T	0.45115	0.1326	M	0.68952	2.095	0.46499	D	0.999078	P	0.35272	0.493	B	0.32928	0.155	T	0.40720	-0.9548	10	0.87932	D	0	-10.3833	5.9291	0.19128	0.7706:0.0:0.0824:0.147	.	311	Q9ULD6	PDZD6_HUMAN	C	311	ENSP00000296461:Y311C	ENSP00000296461:Y311C	Y	+	2	0	INTU	128804149	1.000000	0.71417	0.960000	0.40013	0.400000	0.30750	2.801000	0.47908	0.402000	0.25451	0.477000	0.44152	TAT	INTU	-	NULL	ENSG00000164066		0.423	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2	-	0	18	0	A	XM_371707		128584699	1	tier1	-	no_errors	ENST00000335251	ensembl	human	known	74_37	missense	83.33	2	10	SNP	0.996	G	G	128584699	A	G	128584699	3	3	104	1	0	0	0	0	1	0	0	0	7813	449	16	4	946	4	INTU	4	128584699	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	38983312	128584699	62569577	42	28909											
SCLT1	132320	genome.wustl.edu	37	chr4	129858002	129858002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaattcatgttccattgtaCtgatctaaagaataaaatga	18	13	5	5	0	2	3	1	2	1	1	3	3	3	3	1	0	1	2	1	0	8	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr4:129858002C>A	ENST00000281142.5	-	18	2140	c.1637G>T	c.(1636-1638)aGt>aTt	p.S546I	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	546					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCCATTGTACTGATCTAAAG	0.299																																																	0													61	55	57					4																	129858002		2202	4297	6499	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1637G>T	4.37:g.129858002C>A	ENSP00000281142:p.Ser546Ile		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.S546I	ENST00000281142.5	37	c.1637	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256637	0.59321	.	.	ENSG00000151466	ENST00000281142	T	0.51574	0.7	4.57	4.57	0.56435	.	0.216498	0.47852	D	0.000207	T	0.58192	0.2105	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.56378	-0.7989	9	.	.	.	-10.5392	17.3543	0.87331	0.0:1.0:0.0:0.0	.	546	Q96NL6	SCLT1_HUMAN	I	546	ENSP00000281142:S546I	.	S	-	2	0	SCLT1	130077452	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.614000	0.54160	2.261000	0.74972	0.591000	0.81541	AGT	SCLT1	-	NULL	ENSG00000151466		0.299	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2		0	39	0	C	NM_144643		129858002	-1			no_errors	ENST00000281142	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	A	A	129858002	C	A	129858002	3	1	104	1	0	0	0	0	1	0	0	0	13951	565	20	3	445	3	SCLT1	4	129858002	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	1273303	129858002	61296274	43	28910											
TMEM144	55314	genome.wustl.edu	37	chr4	159156622	159156622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acccaagacccctgttcctgGgtggataaactttctacagt	10	11	8	12	0	1	1	0	0	1	1	2	2	2	2	4	2	2	1	4	2	4	4	rs539307030	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr4:159156622G>T	ENST00000296529.6	+	8	1048	c.528G>T	c.(526-528)tgG>tgT	p.W176C	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	176						integral component of membrane (GO:0016021)		p.W176C(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CCTGTTCCTGGGTGGATAAAC	0.383																																																	1	Substitution - Missense(1)	prostate(1)											147	132	137					4																	159156622		2203	4300	6503	SO:0001583	missense	0			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.528G>T	4.37:g.159156622G>T	ENSP00000296529:p.Trp176Cys		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	pfam_DUF1632_TMEM144,pfam_Sugar_transport	p.W176C	ENST00000296529.6	37	c.528	CCDS3799.1	4	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891141	0.72524	.	.	ENSG00000164124	ENST00000296529	T	0.41065	1.01	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67458	0.2895	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68074	-0.5505	10	0.45353	T	0.12	-79.1375	16.6276	0.84975	0.0:0.0:1.0:0.0	.	176	Q7Z5S9	TM144_HUMAN	C	176	ENSP00000296529:W176C	ENSP00000296529:W176C	W	+	3	0	TMEM144	159376072	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.786000	0.62425	2.835000	0.97688	0.650000	0.86243	TGG	TMEM144	-	pfam_DUF1632_TMEM144	ENSG00000164124		0.383	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM144	HGNC	protein_coding	OTTHUMT00000365597.1		0	53	0	G	NM_018342		159156622	1			no_errors	ENST00000296529	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T	T	159156622	G	T	159156622	3	4	104	1	0	0	0	0	1	0	0	0	16105	1241	43	3	550	3	TMEM144	4	159156622	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	29298620	159156622	31997654	44	28911											
SLC6A18	348932	genome.wustl.edu	37	chr5	1238137	1238137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagagggctgaccctgccaGgggcaacaaaaggactcatc	12	5	12	12	0	2	2	2	1	0	1	3	3	2	3	2	4	2	2	2	4	3	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:1238137G>C	ENST00000324642.3	+	5	817	c.694G>C	c.(694-696)Ggg>Cgg	p.G232R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G232R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	232					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GACCCTGCCAGGGGCAACAAA	0.502																																																	0													141	127	132					5																	1238137		2203	4300	6503	SO:0001583	missense	0			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"Solute carriers"	26441	protein-coding gene	gene with protein product		610300	"solute carrier family 6 (neurotransmitter transporter), member 18", "solute carrier family 6, member 18"			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.694G>C	5.37:g.1238137G>C	ENSP00000323549:p.Gly232Arg			Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.G232R	ENST00000324642.3	37	c.694	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100520	0.56183	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	D;D	0.87729	-2.29;-2.29	4.48	4.48	0.54585	.	0.000000	0.64402	D	0.000001	D	0.96204	0.8762	H	0.98466	4.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.98111	1.0420	10	0.87932	D	0	.	16.2544	0.82505	0.0:0.0:1.0:0.0	.	232	Q96N87	S6A18_HUMAN	R	232	ENSP00000323549:G232R;ENSP00000296821:G232R	ENSP00000296821:G232R	G	+	1	0	SLC6A18	1291137	1.000000	0.71417	0.832000	0.32986	0.011000	0.07611	7.248000	0.78268	2.183000	0.69458	0.561000	0.74099	GGG	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000164363		0.502	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	-	0	33	0	G	NM_182632		1238137	1	tier1	-	no_errors	ENST00000324642	ensembl	human	known	74_37	missense	62.96	20	34	SNP	1.000	C	C	1238137	G	C	1238137	3	2	104	1	0	0	0	0	1	0	0	0	14726	1000	35	5	712	5	SLC6A18	5	1238137	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		1238137	179677123	45	28912											
NNT	23530	genome.wustl.edu	37	chr5	43653133	43653133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaaagatcatgtacctagGctcgggtttgtgctgtgtcg	8	13	13	7	2	1	2	1	1	0	1	3	2	1	2	1	2	2	4	1	2	4	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:43653133G>T	ENST00000264663.5	+	14	2098	c.1877G>T	c.(1876-1878)gGc>gTc	p.G626V	NNT_ENST00000344920.4_Missense_Mutation_p.G626V|NNT_ENST00000512996.2_Missense_Mutation_p.G495V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	626					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATGTACCTAGGCTCGGGTTTG	0.468																																																	0													83	77	79					5																	43653133		2203	4300	6503	SO:0001583	missense	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1877G>T	5.37:g.43653133G>T	ENSP00000264663:p.Gly626Val		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.G626V	ENST00000264663.5	37	c.1877	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600305	0.28534	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.90788	-2.73;-2.73;-2.73	5.96	4.17	0.49024	.	0.088571	0.85682	D	0.000000	D	0.83552	0.5279	N	0.05414	-0.055	0.80722	D	1	P	0.44044	0.825	P	0.48770	0.589	T	0.79838	-0.1634	10	0.02654	T	1	-2.7985	16.8941	0.86095	0.0:0.2416:0.7583:0.0	.	626	Q13423	NNTM_HUMAN	V	141;626;626;495	ENSP00000264663:G626V;ENSP00000343873:G626V;ENSP00000426343:G495V	ENSP00000264663:G626V	G	+	2	0	NNT	43688890	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.399000	0.73248	0.847000	0.35167	0.650000	0.86243	GGC	NNT	-	pfam_NADH_DH_b	ENSG00000112992		0.468	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	-	0	55	0	G	NM_182977		43653133	1	tier1	-	no_errors	ENST00000264663	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T	T	43653133	G	T	43653133	3	4	104	1	0	0	0	0	1	0	0	0	10549	1203	42	3	1927	3	NNT	5	43653133	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	42414996	43653133	137262127	46	28913											
SV2C	22987	genome.wustl.edu	37	chr5	75428155	75428155	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaggatctggatggctaGgtgagtgtgtggtgtcagtg	7	13	17	4	0	3	1	2	1	1	0	3	3	3	3	0	5	0	1	0	5	1	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:75428155G>A	ENST00000502798.2	+	2	1022	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	SV2C_ENST00000322285.7_Splice_Site_p.G194S	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	194					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGATGGCTAGGTGAGTGTGT	0.458																																																	0													90	82	85					5																	75428155		2049	4212	6261	SO:0001630	splice_region_variant	0			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.580+1G>A	5.37:g.75428155G>A			Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.G194S	ENST00000502798.2	37	c.580	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.453133	0.84209	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.73681	-0.77;-0.77	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.048093	0.85682	D	0.000000	D	0.82834	0.5123	L	0.54965	1.715	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	T	0.82004	-0.0672	10	0.44086	T	0.13	-17.8523	19.2647	0.93980	0.0:0.0:1.0:0.0	.	194	Q496J9	SV2C_HUMAN	S	194	ENSP00000423541:G194S;ENSP00000316983:G194S	ENSP00000316983:G194S	G	+	1	0	SV2C	75463911	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	9.869000	0.99810	2.569000	0.86673	0.655000	0.94253	GGC	SV2C	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	ENSG00000122012		0.458	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	-	0	47	0	G		Missense_Mutation	75428155	1	tier1	-	no_errors	ENST00000502798	ensembl	human	known	74_37	missense	78.95	8	30	SNP	1.000	A	A	75428155	G	A	75428155	5	1	104	1	0	0	0	0	0	0	1	0	15466	1014	35	3	582	3	SV2C	5	75428155	Splice_Site	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	31775022	75428155	105487105	47	28914											
CMYA5	202333	genome.wustl.edu	37	chr5	79025179	79025179	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaagaaaaaagaagacCacttcaaatacacctccgat	21	5	5	10	1	1	3	1	0	0	3	2	4	2	3	3	0	2	1	3	0	8	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:79025179C>A	ENST00000446378.2	+	2	622	c.591C>A	c.(589-591)acC>acA	p.T197T		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	197					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAGAAGACCACTTCAAATA	0.368																																																	0													48	46	47					5																	79025179		1833	4096	5929	SO:0001819	synonymous_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.591C>A	5.37:g.79025179C>A			A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.T197	ENST00000446378.2	37	c.591	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	16	0	C	NM_153610		79025179	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	silent	31.58	13	6	SNP	0.017	A	A	79025179	C	A	79025179	2	1	104	1	0	0	0	0	0	0	0	1	3597	581	21	3		3	CMYA5	5	79025179	Silent	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	3597024	79025179	101890081	48	28915											
ARRDC3	57561	genome.wustl.edu	37	chr5	90670002	90670002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgactgcttacacttgagGttctgctaccaaatggatgt	10	13	9	9	0	1	2	0	2	1	0	1	3	1	3	1	2	4	3	1	2	3	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:90670002G>T	ENST00000265138.3	-	6	1228	c.962C>A	c.(961-963)aCc>aAc	p.T321N	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	321					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TACACTTGAGGTTCTGCTACC	0.378																																																	0													186	182	184					5																	90670002		2203	4300	6503	SO:0001583	missense	0			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"alpha-arrestin 3"	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.962C>A	5.37:g.90670002G>T	ENSP00000265138:p.Thr321Asn		A8K6T8|Q9P2H1	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.T321N	ENST00000265138.3	37	c.962	CCDS34202.1	5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057332	0.76074	.	.	ENSG00000113369	ENST00000265138	T	0.06849	3.25	5.86	5.86	0.93980	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	L	0.31371	0.925	0.80722	D	1	P	0.40970	0.734	B	0.37198	0.243	T	0.40683	-0.9550	10	0.13853	T	0.58	-20.9116	20.1986	0.98248	0.0:0.0:1.0:0.0	.	321	Q96B67	ARRD3_HUMAN	N	321	ENSP00000265138:T321N	ENSP00000265138:T321N	T	-	2	0	ARRDC3	90705758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.781000	0.95711	0.650000	0.86243	ACC	ARRDC3	-	superfamily_Ig_E-set	ENSG00000113369		0.378	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC3	HGNC	protein_coding	OTTHUMT00000369763.2	-	0	26	0	G	NM_020801		90670002	-1	tier1	-	no_errors	ENST00000265138	ensembl	human	known	74_37	missense	12.00	21	3	SNP	1.000	T	T	90670002	G	T	90670002	3	4	104	1	0	0	0	0	1	0	0	0	985	1261	44	3	294	3	ARRDC3	5	90670002	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	11644823	90670002	90245258	49	28916											
PRR16	51334	genome.wustl.edu	37	chr5	120022338	120022338	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatcagacctgcaactgtGcctcctcccactgcaccaaa	10	8	5	18	0	1	1	1	0	0	1	3	1	3	1	6	0	4	2	6	0	3	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:120022338G>T	ENST00000407149.2	+	2	1058	c.849G>T	c.(847-849)gtG>gtT	p.V283V	PRR16_ENST00000379551.2_Silent_p.V260V|PRR16_ENST00000505123.1_Silent_p.V213V|PRR16_ENST00000446965.1_Silent_p.V213V			Q569H4	LARGN_HUMAN	proline rich 16	283	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.V260V(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CTGCAACTGTGCCTCCTCCCA	0.468																																																	1	Substitution - coding silent(1)	large_intestine(1)											59	61	60					5																	120022338		2203	4300	6503	SO:0001819	synonymous_variant	0			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.849G>T	5.37:g.120022338G>T			D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	NULL	p.V283	ENST00000407149.2	37	c.849		5																																																																																			PRR16	-	NULL	ENSG00000184838		0.468	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1		0	26	0	G	NM_016644		120022338	1			no_errors	ENST00000407149	ensembl	human	known	74_37	silent	8.33	22	2	SNP	1.000	T	T	120022338	G	T	120022338	2	4	104	1	0	0	0	0	0	0	0	1	12631	1306	46	3		3	PRR16	5	120022338	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	29352336	120022338	60892922	50	28917											
CDKL3	51265	genome.wustl.edu	37	chr5	133643980	133643980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggattgatagggtttggtgGttcaatggttacaagttttg	8	16	15	2	0	1	1	1	1	0	0	1	2	1	2	0	5	1	4	0	5	4	7			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:133643980G>T	ENST00000265334.4	-	9	1331	c.1213C>A	c.(1213-1215)Cca>Aca	p.P405T	CDKL3_ENST00000521755.1_3'UTR|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000536186.1_Missense_Mutation_p.P110T|CDKL3_ENST00000523832.1_Missense_Mutation_p.P405T|CDKL3_ENST00000609383.1_Missense_Mutation_p.P110T|CDKL3_ENST00000521118.1_Missense_Mutation_p.P405T|CDKL3_ENST00000609654.1_Missense_Mutation_p.P216T|CDKL3_ENST00000435240.2_Missense_Mutation_p.P110T|CDKL3_ENST00000435211.1_Missense_Mutation_p.P405T|CDKL3_ENST00000523054.1_Missense_Mutation_p.P216T	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	405					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGTTTGGTGGTTCAATGGTT	0.403																																																	0													187	175	178					5																	133643980		1891	4112	6003	SO:0001583	missense	0			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"Cyclin-dependent kinases"	15483	protein-coding gene	gene with protein product	"serine-threonine protein kinase NKIAMRE"	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1213C>A	5.37:g.133643980G>T	ENSP00000265334:p.Pro405Thr		D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P405T	ENST00000265334.4	37	c.1213	CCDS47264.1	5	.	.	.	.	.	.	.	.	.	.	G	2.059	-0.415950	0.04766	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.72505	0.95;0.91;-0.61;-0.45;-0.66;-0.61;-0.61	5.56	2.39	0.29439	.	0.447160	0.21429	N	0.074697	T	0.52709	0.1751	N	0.24115	0.695	0.09310	N	1	B;P;P;B;B	0.38677	0.418;0.573;0.642;0.164;0.049	B;B;B;B;B	0.39217	0.121;0.294;0.274;0.06;0.026	T	0.44982	-0.9292	10	0.49607	T	0.09	-27.0197	5.5924	0.17309	0.2707:0.1494:0.5799:0.0	.	216;110;110;216;405	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	T	110;110;405;216;405;405;405	ENSP00000441545:P110T;ENSP00000399807:P110T;ENSP00000265334:P405T;ENSP00000428500:P216T;ENSP00000428689:P405T;ENSP00000430496:P405T;ENSP00000395559:P405T	ENSP00000265334:P405T	P	-	1	0	CDKL3	133671879	0.001000	0.12720	0.017000	0.16124	0.029000	0.11900	0.396000	0.20867	0.738000	0.32606	-0.142000	0.14014	CCA	CDKL3	-	NULL	ENSG00000006837		0.403	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDKL3	HGNC	protein_coding	OTTHUMT00000377697.1	-	0	98	0	G	NM_001113575		133643980	-1	tier1	-	no_errors	ENST00000265334	ensembl	human	known	74_37	missense	53.62	32	37	SNP	0.001	T	T	133643980	G	T	133643980	3	4	104	1	0	0	0	0	1	0	0	0	3162	1261	44	3	589	3	CDKL3	5	133643980	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	13621642	133643980	47271280	51	28918											
FAM13B	51306	genome.wustl.edu	37	chr5	137275979	137275979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcctaagcttggctttaaTtttcttgtactctctgtact	8	18	6	9	0	2	0	0	0	2	0	3	0	2	0	1	1	4	4	1	1	5	9			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:137275979T>C	ENST00000033079.3	-	23	3134	c.2683A>G	c.(2683-2685)Att>Gtt	p.I895V	PKD2L2_ENST00000502810.1_3'UTR|PKD2L2_ENST00000508883.1_Intron|PKD2L2_ENST00000290431.5_3'UTR|FAM13B_ENST00000420893.2_Missense_Mutation_p.I867V|PKD2L2_ENST00000508638.1_3'UTR|FAM13B_ENST00000425075.2_Missense_Mutation_p.I771V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	895					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						TTGGCTTTAATTTTCTTGTAC	0.348																																																	0													108	106	106					5																	137275979		2203	4300	6503	SO:0001583	missense	0			AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"Rho GTPase activating proteins"	1335	protein-coding gene	gene with protein product		609371	"chromosome 5 open reading frame 5", "family with sequence similarity 13, member B1"	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.2683A>G	5.37:g.137275979T>C	ENSP00000033079:p.Ile895Val		D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.I895V	ENST00000033079.3	37	c.2683	CCDS4195.1	5	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266295	0.59540	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	T;T;T	0.23147	2.98;1.92;3.03	5.37	5.37	0.77165	.	0.054863	0.64402	D	0.000001	T	0.13329	0.0323	N	0.11427	0.14	0.45464	D	0.998438	B;B;B	0.24258	0.043;0.1;0.014	B;B;B	0.27887	0.084;0.01;0.012	T	0.17623	-1.0363	10	0.23302	T	0.38	-11.8585	8.2173	0.31519	0.0:0.1505:0.0:0.8495	.	771;867;895	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	V	895;771;867	ENSP00000033079:I895V;ENSP00000394669:I771V;ENSP00000388521:I867V	ENSP00000033079:I895V	I	-	1	0	FAM13B	137303878	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.069000	0.41481	2.163000	0.67991	0.482000	0.46254	ATT	FAM13B	-	NULL	ENSG00000031003		0.348	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13B	HGNC	protein_coding	OTTHUMT00000251279.1	-	0	35	0	T			137275979	-1	tier1	-	no_errors	ENST00000033079	ensembl	human	known	74_37	missense	58.06	13	18	SNP	1.000	C	C	137275979	T	C	137275979	3	2	104	1	0	0	0	0	1	0	0	0	5472	1493	52	4	68	4	FAM13B	5	137275979	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	3631999	137275979	43639281	52	28919											
ANKHD1	54882	genome.wustl.edu	37	chr5	139917797	139917797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggaatggtagccccctCtaacatttttcatcagccta	9	14	6	12	0	4	0	2	0	2	0	4	1	4	1	3	2	3	1	3	2	4	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:139917797C>G	ENST00000360839.2	+	32	7509	c.7355C>G	c.(7354-7356)tCt>tGt	p.S2452C	ANKHD1_ENST00000297183.6_Missense_Mutation_p.S2452C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2452C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S776C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2452						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGCCCCCTCTAACATTTTT	0.423																																																	0													255	243	247					5																	139917797		2203	4300	6503	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"Ankyrin repeat domain containing"	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7355C>G	5.37:g.139917797C>G	ENSP00000354085:p.Ser2452Cys		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.S2452C	ENST00000360839.2	37	c.7355	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.125262|4.125262	0.77436|0.77436	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000421706|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|T;T;T;T;T;T;T	.|0.73469	.|-0.64;-0.75;1.44;1.56;1.01;-0.75;0.52	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.118444	.|0.64402	.|D	.|0.000015	D|D	0.82370|0.82370	0.5022|0.5022	L|L	0.52573|0.52573	1.65|1.65	0.43745|0.43745	D|D	0.996244|0.996244	.|P;P;D;P;P;P	.|0.55605	.|0.953;0.916;0.972;0.698;0.778;0.574	.|P;P;P;B;B;P	.|0.59948	.|0.738;0.738;0.866;0.326;0.371;0.572	T|T	0.83029|0.83029	-0.0163|-0.0163	5|10	.|0.87932	.|D	.|0	.|.	19.7069|19.7069	0.96076|0.96076	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|776;899;776;2469;2452;2452	.|Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.|.;.;.;.;.;ANKH1_HUMAN	V|C	110|2452;2452;2469;1125;991;776;2452;480	.|ENSP00000354085:S2452C;ENSP00000297183:S2452C;ENSP00000393204:S1125C;ENSP00000390034:S991C;ENSP00000437687:S776C;ENSP00000432016:S2452C;ENSP00000396882:S480C	.|ENSP00000396882:S480C	L|S	+|+	1|2	2|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139897981|139897981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.278000|7.278000	0.78587|0.78587	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CTA|TCT	ANKHD1	-	NULL	ENSG00000131503		0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0	54	0	C	NM_017747		139917797	1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	24.32	28	9	SNP	1.000	G	G	139917797	C	G	139917797	3	3	104	1	0	0	0	0	1	0	0	0	628	913	32	5	7587	5	ANKHD1	5	139917797	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	2641818	139917797	40997463	53	28920											
PCDHB4	56131	genome.wustl.edu	37	chr5	140502263	140502263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggcacggtcatggttcGaatcctgatcatggacatca	9	11	11	10	2	4	1	3	1	1	0	6	3	5	2	1	4	0	2	1	4	1	1	rs367626652		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:140502263G>T	ENST00000194152.1	+	1	683	c.683G>T	c.(682-684)cGa>cTa	p.R228L	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCATGGTTCGAATCCTGATC	0.537																																																	0													130	120	123					5																	140502263		2203	4300	6503	SO:0001583	missense	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"Cadherins / Protocadherins : Clustered"	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.683G>T	5.37:g.140502263G>T	ENSP00000194152:p.Arg228Leu		Q4V761	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R228L	ENST00000194152.1	37	c.683	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090539	0.07053	.	.	ENSG00000081818	ENST00000194152	T	0.53206	0.63	4.31	-0.709	0.11237	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28830	0.0715	N	0.13198	0.31	0.09310	N	1	B	0.06786	0.001	B	0.19391	0.025	T	0.24048	-1.0171	9	0.24483	T	0.36	.	11.0503	0.47882	0.5953:0.0:0.4047:0.0	.	228	Q9Y5E5	PCDB4_HUMAN	L	228	ENSP00000194152:R228L	ENSP00000194152:R228L	R	+	2	0	PCDHB4	140482447	0.000000	0.05858	0.054000	0.19295	0.749000	0.42624	-3.184000	0.00567	-0.281000	0.09141	-0.781000	0.03364	CGA	PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081818		0.537	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2		0	27	0	G	NM_018938		140502263	1			no_errors	ENST00000194152	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.000	T	T	140502263	G	T	140502263	3	4	104	1	0	0	0	0	1	0	0	0	11583	1058	37	2	685	2	PCDHB4	5	140502263	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	584466	140502263	40412997	54	28921											
RMND5B	64777	genome.wustl.edu	37	chr5	177565148	177565148	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgcgtgcgtggagagaGagctggacaaggtcctgcag	9	7	18	7	2	0	2	0	0	0	2	1	5	1	3	1	3	4	2	1	3	1	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr5:177565148G>T	ENST00000515098.1	+	4	379	c.28G>T	c.(28-30)Gag>Tag	p.E10*	RMND5B_ENST00000313386.4_Nonsense_Mutation_p.E10*|RMND5B_ENST00000542098.1_Intron			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	10										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGAGAGAGAGCTGGACAA	0.667																																																	0													65	52	57					5																	177565148		2203	4299	6502	SO:0001587	stop_gained	0			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"GID complex subunit 2 homolog B"					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.28G>T	5.37:g.177565148G>T	ENSP00000420875:p.Glu10*		Q1HE27|Q6UVY7|Q9H6F6	Nonsense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E10*	ENST00000515098.1	37	c.28	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	G	41	8.738890	0.98935	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000502814;ENST00000507457;ENST00000508647	.	.	.	5.15	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.284	13.3758	0.60739	0.0:0.1597:0.8403:0.0	.	.	.	.	X	10	.	ENSP00000320623:E10X	E	+	1	0	RMND5B	177497754	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.071000	0.76770	1.116000	0.41820	0.563000	0.77884	GAG	RMND5B	-	NULL	ENSG00000145916		0.667	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	-	0	36	0	G	NM_022762		177565148	1	tier1	-	no_errors	ENST00000313386	ensembl	human	known	74_37	nonsense	51.72	14	15	SNP	1.000	T	T	177565148	G	T	177565148	4	4	104	1	0	0	0	0	0	1	0	0	13443	943	33	3	30	3	RMND5B	5	177565148	Nonsense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	37062885	177565148	3350112	55	28922											
HIVEP1	3096	genome.wustl.edu	37	chr6	12125356	12125356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtttgtgcaacagaCgtgagacctttagaggcttt	9	12	13	7	1	0	3	0	1	0	3	0	5	0	4	1	2	3	4	1	2	2	4	rs539525903		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:12125356C>T	ENST00000379388.2	+	4	5660	c.5328C>T	c.(5326-5328)gaC>gaT	p.D1776D	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1776					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTGCAACAGACGTGAGACCTT	0.448																																																	0													115	113	114					6																	12125356		1880	4111	5991	SO:0001819	synonymous_variant	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5328C>T	6.37:g.12125356C>T			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1776	ENST00000379388.2	37	c.5328	CCDS43426.1	6																																																																																			HIVEP1	-	NULL	ENSG00000095951		0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	16	0	C	NM_002114		12125356	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	silent	29.41	24	10	SNP	0.000	T	T	12125356	C	T	12125356	2	4	104	1	0	0	0	0	0	0	0	1	7213	535	19	1		1	HIVEP1	6	12125356	Silent	SNP	C	TCGA-LN-A49R-01A-11D-A247-09		12125356	158989711	56	28923											
HIST1H1E	3008	genome.wustl.edu	37	chr6	26156820	26156820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaagaaagcgctggcaGccgctggctatgacgtggag	9	7	14	11	3	1	2	1	1	1	1	2	3	1	3	1	3	2	4	1	3	3	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:26156820G>T	ENST00000304218.3	+	1	262	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	68	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AGCGCTGGCAGCCGCTGGCTA	0.627																																																	0													36	39	38					6																	26156820		2203	4300	6503	SO:0001583	missense	0			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"Histones / Replication-dependent"	4718	protein-coding gene	gene with protein product		142220	"H1 histone family, member 4", "histone 1, H1e"	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.202G>T	6.37:g.26156820G>T	ENSP00000307705:p.Ala68Ser		Q4VB25	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.A68S	ENST00000304218.3	37	c.202	CCDS4586.1	6	.	.	.	.	.	.	.	.	.	.	.	25.4	4.636681	0.87760	.	.	ENSG00000168298	ENST00000304218	T	0.11277	2.79	5.11	5.11	0.69529	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.118143	0.56097	D	0.000023	T	0.21631	0.0521	M	0.64997	1.995	0.80722	D	1	P	0.42248	0.774	P	0.58577	0.841	T	0.00180	-1.1949	10	0.87932	D	0	-4.424	17.8759	0.88825	0.0:0.0:1.0:0.0	.	68	P10412	H14_HUMAN	S	68	ENSP00000307705:A68S	ENSP00000307705:A68S	A	+	1	0	HIST1H1E	26264799	1.000000	0.71417	0.995000	0.50966	0.930000	0.56654	6.418000	0.73341	2.542000	0.85734	0.561000	0.74099	GCC	HIST1H1E	-	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	ENSG00000168298		0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	-	0	47	0	G	NM_005321		26156820	1	tier1	-	no_errors	ENST00000304218	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T	T	26156820	G	T	26156820	3	4	104	1	0	0	0	0	1	0	0	0	7153	971	34	3	204	3	HIST1H1E	6	26156820	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	14031464	26156820	144958247	57	28924											
OR11A1	26531	genome.wustl.edu	37	chr6	29394522	29394522	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcttccgaagtgcctgAtgcacctccttgttcctcat	8	13	7	13	1	2	2	1	1	1	1	5	3	5	2	5	0	2	2	5	0	2	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:29394522A>G	ENST00000377149.1	-	5	1369	c.897T>C	c.(895-897)caT>caC	p.H299H	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.H299H|OR11A1_ENST00000377147.2_Silent_p.H299H			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GAAGTGCCTGATGCACCTCCT	0.473																																																	0													114	111	112					6																	29394522		1511	2709	4220	SO:0001819	synonymous_variant	0				CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"GPCR / Class A : Olfactory receptors"	8176	protein-coding gene	gene with protein product			"olfactory receptor, family 11, subfamily A, member 2"	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.897T>C	6.37:g.29394522A>G			A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.H299	ENST00000377149.1	37	c.897	CCDS34363.1	6																																																																																			OR11A1	-	prints_GPCR_Rhodpsn	ENSG00000204694		0.473	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	HGNC	protein_coding	OTTHUMT00000193778.1	-	0	24	0	A			29394522	-1	tier1	-	no_errors	ENST00000377147	ensembl	human	known	74_37	silent	57.14	9	12	SNP	0.645	G	G	29394522	A	G	29394522	2	3	104	1	0	0	0	0	0	0	0	1	10963	330	12	4		4	OR11A1	6	29394522	Silent	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	3237702	29394522	141720545	58	28925											
SRPK1	6732	genome.wustl.edu	37	chr6	35810356	35810356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaatgaggttcaaacaaaTagtcacctgtggccagttca	13	10	9	9	0	3	2	3	2	0	0	3	2	3	2	2	2	1	2	2	2	4	3	rs368604697		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:35810356T>C	ENST00000373825.2	-	14	1931	c.1646A>G	c.(1645-1647)tAt>tGt	p.Y549C	SRPK1_ENST00000373822.1_Missense_Mutation_p.Y441C|SRPK1_ENST00000423325.2_Missense_Mutation_p.Y533C					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCAAACAAATAGTCACCTGT	0.418																																					NSCLC(31;67 978 16289 24856 26454)												0													77	71	73					6																	35810356		1896	4120	6016	SO:0001583	missense	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"SR protein kinase 1", "serine/arginine-rich splicing factor kinase 1"	601939	"SFRS protein kinase 1"			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1646A>G	6.37:g.35810356T>C	ENSP00000362931:p.Tyr549Cys			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y549C	ENST00000373825.2	37	c.1646	CCDS47415.1	6	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428384	0.83667	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.33118	0.0852	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.11717	-1.0576	9	0.87932	D	0	-11.6433	15.3152	0.74069	0.0:0.0:0.0:1.0	.	533;549	B4DS61;Q96SB4	.;SRPK1_HUMAN	C	549;565;533;441	ENSP00000362931:Y549C;ENSP00000354674:Y565C;ENSP00000391069:Y533C;ENSP00000362928:Y441C	ENSP00000354674:Y565C	Y	-	2	0	SRPK1	35918334	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.651000	0.83577	2.079000	0.62486	0.402000	0.26972	TAT	SRPK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000096063		0.418	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3	-	0	12	0	T	NM_003137		35810356	-1	tier1	-	no_errors	ENST00000373825	ensembl	human	known	74_37	missense	29.41	12	5	SNP	1.000	C	C	35810356	T	C	35810356	3	2	104	1	0	0	0	0	1	0	0	0	15206	1406	49	4	333	4	SRPK1	6	35810356	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	6415834	35810356	135304711	59	28926											
FBXO9	26268	genome.wustl.edu	37	chr6	52960336	52960336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgactataaatacagatAttttcgtcgtgtccctgtac	11	15	6	9	2	0	2	0	1	0	1	3	2	1	2	1	0	2	1	1	0	6	8			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:52960336A>G	ENST00000244426.6	+	11	1281	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C	FBXO9_ENST00000323557.7_Missense_Mutation_p.Y360C|FBXO9_ENST00000370939.3_Missense_Mutation_p.Y326C	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	370					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					AAATACAGATATTTTCGTCGT	0.383																																																	0													78	74	75					6																	52960336		1835	4093	5928	SO:0001583	missense	0			AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"F-boxes /  "other""	13588	protein-coding gene	gene with protein product		609091	"F-box only protein 9"			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.1109A>G	6.37:g.52960336A>G	ENSP00000244426:p.Tyr370Cys		A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.Y370C	ENST00000244426.6	37	c.1109	CCDS55023.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.02|16.02|16.02	3.005290|3.005290|3.005290	0.54254|0.54254|0.54254	.|.|.	.|.|.	ENSG00000112146|ENSG00000112146|ENSG00000112146	ENST00000484436|ENST00000473318|ENST00000370939;ENST00000323557;ENST00000244426	.|.|T;T;T	.|.|0.77229	.|.|-1.07;-1.07;-1.08	5.13|5.13|5.13	3.88|3.88|3.88	0.44766|0.44766|0.44766	.|.|F-box domain, Skp2-like (1);	.|.|0.105878	.|.|0.64402	.|.|D	.|.|0.000003	T|T|T	0.69287|0.69287|0.69287	0.3094|0.3094|0.3094	L|L|L	0.44542|0.44542|0.44542	1.39|1.39|1.39	0.50039|0.50039|0.50039	D|D|D	0.999841|0.999841|0.999841	.|.|D;D;P	.|.|0.57257	.|.|0.978;0.979;0.878	.|.|P;P;B	.|.|0.52710	.|.|0.707;0.598;0.346	T|T|T	0.70121|0.70121|0.70121	-0.4959|-0.4959|-0.4959	5|5|10	.|.|0.39692	.|.|T	.|.|0.17	-5.5294|-5.5294|-5.5294	11.08|11.08|11.08	0.48053|0.48053|0.48053	0.8613:0.0:0.0:0.1387|0.8613:0.0:0.0:0.1387|0.8613:0.0:0.0:0.1387	.|.|.	.|.|360;477;370	.|.|Q9UK97-2;Q59EH8;Q9UK97	.|.|.;.;FBX9_HUMAN	M|V|C	80|119|326;360;370	.|.|ENSP00000359977:Y326C;ENSP00000326968:Y360C;ENSP00000244426:Y370C	.|.|ENSP00000244426:Y370C	I|I|Y	+|+|+	3|1|2	3|0|0	FBXO9|FBXO9|FBXO9	53068295|53068295|53068295	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.995000|0.995000|0.995000	0.50966|0.50966|0.50966	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	5.092000|5.092000|5.092000	0.64511|0.64511|0.64511	2.054000|2.054000|2.054000	0.61138|0.61138|0.61138	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	ATA|ATT|TAT	FBXO9	-	superfamily_F-box_dom	ENSG00000112146		0.383	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	HGNC	protein_coding	OTTHUMT00000040950.3	-	0	48	0	A			52960336	1	tier1	-	no_errors	ENST00000244426	ensembl	human	known	74_37	missense	57.69	22	30	SNP	1.000	G	G	52960336	A	G	52960336	3	3	104	1	0	0	0	0	1	0	0	0	5784	449	16	4	1158	4	FBXO9	6	52960336	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	17149980	52960336	118154731	60	28927											
PHIP	55023	genome.wustl.edu	37	chr6	79698018	79698018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataattgtgttgatttgtctGttgctttttggattctccaa	7	21	8	5	0	2	1	0	1	2	0	3	2	2	2	1	1	1	3	1	1	2	8			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:79698018G>T	ENST00000275034.4	-	21	2535	c.2368C>A	c.(2368-2370)Cag>Aag	p.Q790K		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	790					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGATTTGTCTGTTGCTTTTTG	0.343																																																	0													168	155	159					6																	79698018		2203	4300	6503	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2368C>A	6.37:g.79698018G>T	ENSP00000275034:p.Gln790Lys		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.Q790K	ENST00000275034.4	37	c.2368	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043339	0.36085	.	.	ENSG00000146247	ENST00000275034	T	0.27890	1.64	4.68	4.68	0.58851	.	0.173337	0.40818	N	0.001007	T	0.14442	0.0349	L	0.50333	1.59	0.38922	D	0.957752	B;B	0.23316	0.083;0.083	B;B	0.17433	0.018;0.018	T	0.03750	-1.1007	9	.	.	.	-9.1336	12.6393	0.56700	0.0:0.1661:0.8339:0.0	.	790;790	A7J992;Q8WWQ0	.;PHIP_HUMAN	K	790	ENSP00000275034:Q790K	.	Q	-	1	0	PHIP	79754737	1.000000	0.71417	0.950000	0.38849	0.981000	0.71138	7.125000	0.77193	2.296000	0.77279	0.585000	0.79938	CAG	PHIP	-	NULL	ENSG00000146247		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	-	0	64	0	G			79698018	-1	tier1	-	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	50.00	14	14	SNP	0.946	T	T	79698018	G	T	79698018	3	4	104	1	0	0	0	0	1	0	0	0	11881	1386	48	3	3177	3	PHIP	6	79698018	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	26737682	79698018	91417049	61	28928											
REV3L	5980	genome.wustl.edu	37	chr6	111694879	111694879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcaagggaaccagaaataTttttatttggttgatgttta	12	16	9	4	0	1	2	1	1	0	1	1	3	1	3	1	2	1	3	1	2	6	8			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:111694879T>C	ENST00000358835.3	-	14	5133	c.4679A>G	c.(4678-4680)aAt>aGt	p.N1560S	REV3L_ENST00000435970.1_Missense_Mutation_p.N1482S|REV3L_ENST00000368802.3_Missense_Mutation_p.N1560S|REV3L_ENST00000368805.1_Missense_Mutation_p.N1560S			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1560					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ACCAGAAATATTTTTATTTGG	0.363								DNA polymerases (catalytic subunits)																																									0													212	217	216					6																	111694879		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"DNA polymerases"	9968	protein-coding gene	gene with protein product	"polymerase, DNA, zeta"	602776	"REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta", "REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4679A>G	6.37:g.111694879T>C	ENSP00000351697:p.Asn1560Ser		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.N1560S	ENST00000358835.3	37	c.4679	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	T	0.468	-0.886004	0.02511	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01406	5.02;5.02;5.02;4.93	6.04	2.28	0.28536	Ribonuclease H-like (1);	0.496781	0.21821	N	0.068606	T	0.00241	0.0007	N	0.08118	0	0.28464	N	0.915746	B	0.02656	0.0	B	0.04013	0.001	T	0.41610	-0.9499	10	0.16420	T	0.52	-0.8532	0.2818	0.00246	0.2373:0.1475:0.2458:0.3693	.	1560	O60673	DPOLZ_HUMAN	S	1560;1560;1560;1482	ENSP00000357792:N1560S;ENSP00000357795:N1560S;ENSP00000351697:N1560S;ENSP00000402003:N1482S	ENSP00000351697:N1560S	N	-	2	0	REV3L	111801572	0.485000	0.25972	0.989000	0.46669	0.651000	0.38670	0.378000	0.20569	0.487000	0.27698	0.460000	0.39030	AAT	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.363	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0	85	0	T	NM_002912		111694879	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	10.34	52	6	SNP	0.961	C	C	111694879	T	C	111694879	3	2	104	1	0	0	0	0	1	0	0	0	13285	1493	52	4	4793	4	REV3L	6	111694879	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	31996861	111694879	59420188	62	28929											
PTPRK	5796	genome.wustl.edu	37	chr6	128718824	128718824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctggaccatcatcaaaaGtacagccacctaggagaaaa	16	5	7	13	0	2	1	2	0	0	1	2	3	2	2	5	2	2	1	5	2	6	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:128718824G>T	ENST00000368215.3	-	2	109	c.110C>A	c.(109-111)aCt>aAt	p.T37N	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.T37N|PTPRK_ENST00000368210.3_Missense_Mutation_p.T37N|PTPRK_ENST00000368227.3_Missense_Mutation_p.T37N|PTPRK_ENST00000368213.5_Missense_Mutation_p.T37N|PTPRK_ENST00000525459.1_Missense_Mutation_p.T37N|PTPRK_ENST00000368207.3_Missense_Mutation_p.T37N|PTPRK_ENST00000368226.4_Missense_Mutation_p.T37N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	37	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCATCAAAAGTACAGCCACC	0.398																																																	0													143	146	145					6																	128718824		2203	4300	6503	SO:0001583	missense	0			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.110C>A	6.37:g.128718824G>T	ENSP00000357198:p.Thr37Asn		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	NULL	p.Y76*	ENST00000368215.3	37	c.228		6	.	.	.	.	.	.	.	.	.	.	G	39	7.801302	0.98498	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	T;T;T;T;T;T;T;T	0.01821	4.62;4.62;4.62;4.62;4.62;4.62;4.62;4.62	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.067619	0.56097	D	0.000025	T	0.03348	0.0097	L	0.37697	1.125	0.37429	D	0.913946	B;P;D;P;P	0.61697	0.085;0.605;0.99;0.77;0.728	B;B;D;B;B	0.64410	0.124;0.388;0.925;0.327;0.219	T	0.62431	-0.6856	10	0.42905	T	0.14	.	18.8132	0.92065	0.0:0.0:1.0:0.0	.	37;37;37;37;37	B4DHC3;B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;.;PTPRK_HUMAN;.	N	37	ENSP00000357209:T37N;ENSP00000357210:T37N;ENSP00000432973:T37N;ENSP00000357196:T37N;ENSP00000357193:T37N;ENSP00000357198:T37N;ENSP00000357190:T37N;ENSP00000434116:T37N	ENSP00000357190:T37N	T	-	2	0	PTPRK	128760517	1.000000	0.71417	0.997000	0.53966	0.853000	0.48598	6.840000	0.75369	2.754000	0.94517	0.655000	0.94253	ACT	PTPRK	-	NULL	ENSG00000152894		0.398	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	-	0	26	0	G			128718824	-1	tier1	-	no_errors	ENST00000392449	ensembl	human	known	74_37	nonsense	20.00	16	4	SNP	0.983	T	T	128718824	G	T	128718824	3	4	104	1	0	0	0	0	1	0	0	0	12850	1029	36	3	4350	3	PTPRK	6	128718824	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	17023945	128718824	42396243	63	28930											
C6orf72	116254	genome.wustl.edu	37	chr6	149900994	149900994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaaaggatgtcactgaaAttgatattttagttaagaac	17	12	8	4	0	1	3	1	2	0	1	1	4	1	4	0	1	2	2	0	1	7	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:149900994A>G	ENST00000367419.5	+	5	575	c.454A>G	c.(454-456)Att>Gtt	p.I152V		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	152						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGTCACTGAAATTGATATTTT	0.338																																																	0													55	53	53					6																	149900994		2202	4299	6501	SO:0001583	missense	0			BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 72"	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.454A>G	6.37:g.149900994A>G	ENSP00000356389:p.Ile152Val		B2RDY7|E1P5A2	Missense_Mutation	SNP	NULL	p.I152V	ENST00000367419.5	37	c.454	CCDS5216.1	6	.	.	.	.	.	.	.	.	.	.	A	7.114	0.576667	0.13686	.	.	ENSG00000055211	ENST00000367423;ENST00000367419;ENST00000433539	.	.	.	5.77	-1.4	0.08968	.	0.273592	0.35349	N	0.003264	T	0.14056	0.0340	L	0.42245	1.32	0.29727	N	0.83821	B;B	0.12013	0.005;0.005	B;B	0.14023	0.01;0.01	T	0.23226	-1.0194	8	.	.	.	-4.8507	6.6301	0.22851	0.5603:0.1226:0.317:0.0	.	152;152	A8K037;Q9NU53	.;CF072_HUMAN	V	32;152;26	.	.	I	+	1	0	C6orf72	149942687	0.999000	0.42202	0.996000	0.52242	0.984000	0.73092	0.638000	0.24674	-0.120000	0.11809	-0.274000	0.10170	ATT	GINM1	-	NULL	ENSG00000055211		0.338	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINM1	HGNC	protein_coding	OTTHUMT00000042644.1	-	0	34	0	A	NM_138785		149900994	1	tier1	-	no_errors	ENST00000367419	ensembl	human	known	74_37	missense	95.00	1	19	SNP	0.994	G	G	149900994	A	G	149900994	3	3	104	1	0	0	0	0	1	0	0	0	2378	101	4	4	472	4	C6orf72	6	149900994	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	21182170	149900994	21214073	64	28931											
PDCD2	5134	genome.wustl.edu	37	chr6	170892195	170892195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccacaacctcaggcAtaatctcatcttctgtttct	8	16	3	14	0	5	0	2	0	4	0	7	0	6	0	3	1	1	2	3	1	2	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr6:170892195A>G	ENST00000541970.1	-	3	686	c.608T>C	c.(607-609)aTg>aCg	p.M203T	PDCD2_ENST00000443345.2_Missense_Mutation_p.M170T|PDCD2_ENST00000542896.1_Missense_Mutation_p.M203T|PDCD2_ENST00000392090.2_Missense_Mutation_p.M170T|PDCD2_ENST00000453163.2_Missense_Mutation_p.M203T|PDCD2_ENST00000537445.1_Missense_Mutation_p.M170T	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	203					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		AACCTCAGGCATAATCTCATC	0.368																																					Colon(60;1476 1726 39478)												0													131	129	130					6																	170892195		2203	4300	6503	SO:0001583	missense	0			AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"Zinc fingers, MYND-type"	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.608T>C	6.37:g.170892195A>G	ENSP00000439467:p.Met203Thr		E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Missense_Mutation	SNP	pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND	p.M203T	ENST00000541970.1	37	c.608	CCDS5316.1	6	.	.	.	.	.	.	.	.	.	.	.	4.052	0.007261	0.07866	.	.	ENSG00000071994	ENST00000541970;ENST00000392090;ENST00000542896;ENST00000538195;ENST00000453163;ENST00000537445;ENST00000443345	.	.	.	4.65	-8.33	0.00992	Programmed cell death protein 2, C-terminal (1);	2.708770	0.00718	N	0.000865	T	0.02047	0.0064	N	0.01800	-0.715	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.18555	-1.0333	8	.	.	.	-14.5689	1.8344	0.03137	0.1865:0.1029:0.4041:0.3065	.	152;170;203;170;203;203;170	Q7Z6S7;F5GYS7;E9PCU7;Q58HM9;F5H4V9;Q16342;Q58HN0	.;.;.;.;.;PDCD2_HUMAN;.	T	203;170;203;1;203;170;170	.	.	M	-	2	0	PDCD2	170734120	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.607000	0.05648	-1.418000	0.02014	-1.309000	0.01313	ATG	PDCD2	-	pfam_PDCD2_C	ENSG00000071994		0.368	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2	HGNC	protein_coding	OTTHUMT00000043269.2	-	0	30	0	A	NM_002598		170892195	-1	tier1	-	no_errors	ENST00000541970	ensembl	human	known	74_37	missense	85.71	5	30	SNP	0.000	G	G	170892195	A	G	170892195	3	3	104	1	0	0	0	0	1	0	0	0	11658	217	8	4	471	4	PDCD2	6	170892195	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	20991201	170892195	222872	65	28932											
RBAK	57786	genome.wustl.edu	37	chr7	5104863	5104863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagagtacacacaggcgaGaaaccctatgaatgttacga	17	6	9	9	2	0	3	0	1	0	2	0	5	0	3	1	1	3	2	1	1	6	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:5104863G>C	ENST00000353796.3	+	6	2100	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E592D|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	592	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACACAGGCGAGAAACCCTATG	0.383																																																	0													45	48	47					7																	5104863		2203	4299	6502	SO:0001583	missense	0			AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"Zinc fingers, C2H2-type", "-"	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1776G>C	7.37:g.5104863G>C	ENSP00000275423:p.Glu592Asp		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E592D	ENST00000353796.3	37	c.1776	CCDS5337.1	7	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259720	0.59321	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.26810	1.71;1.71	3.76	2.88	0.33553	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000113	T	0.33789	0.0875	L	0.33189	0.99	0.36780	D	0.884277	P	0.46656	0.882	D	0.66351	0.943	T	0.39683	-0.9602	8	.	.	.	.	9.2294	0.37428	0.1108:0.0:0.8892:0.0	.	592	Q9NYW8	RBAK_HUMAN	D	592	ENSP00000275423:E592D;ENSP00000380120:E592D	.	E	+	3	2	RBAK	5071389	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.128000	0.57951	1.155000	0.42497	0.555000	0.69702	GAG	RBAK	-	pfscan_Znf_C2H2	ENSG00000146587		0.383	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBAK	HGNC	protein_coding	OTTHUMT00000241640.2	-	0	21	0	G	NM_021163		5104863	1	tier1	-	no_errors	ENST00000353796	ensembl	human	known	74_37	missense	36.00	16	9	SNP	1.000	C	C	5104863	G	C	5104863	3	2	104	1	0	0	0	0	1	0	0	0	13145	933	33	5	1790	5	RBAK	7	5104863	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		5104863	154033800	66	28933											
C7orf31	136895	genome.wustl.edu	37	chr7	25191224	25191224	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatacttacatcataataTacaccttgacctggccaagt	15	11	5	10	0	1	2	1	1	0	1	1	2	1	2	3	1	3	0	3	1	7	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:25191224T>C	ENST00000409280.1	-	7	983	c.675A>G	c.(673-675)gtA>gtG	p.V225V	C7orf31_ENST00000283905.3_Silent_p.V225V			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	225										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CATCATAATATACACCTTGAC	0.323																																																	0													81	80	81					7																	25191224		2203	4300	6503	SO:0001819	synonymous_variant	0			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.675A>G	7.37:g.25191224T>C			A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Silent	SNP	NULL	p.V225	ENST00000409280.1	37	c.675	CCDS5394.1	7																																																																																			C7orf31	-	NULL	ENSG00000153790		0.323	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	-	0	36	0	T	NM_138811		25191224	-1	tier1	-	no_errors	ENST00000283905	ensembl	human	known	74_37	silent	54.05	17	20	SNP	0.220	C	C	25191224	T	C	25191224	2	2	104	1	0	0	0	0	0	0	0	1	2394	1393	49	4		4	C7orf31	7	25191224	Silent	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	20086361	25191224	133947439	67	28934											
POLD2	5425	genome.wustl.edu	37	chr7	44156828	44156828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcgtctctcacggagccaAacacagccaggacagtccct	10	6	9	16	3	2	0	1	0	1	0	5	2	3	2	3	2	3	0	3	2	1	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:44156828A>T	ENST00000406581.2	-	6	1134	c.485T>A	c.(484-486)tTt>tAt	p.F162Y	POLD2_ENST00000452185.1_Missense_Mutation_p.F162Y|POLD2_ENST00000223361.3_Missense_Mutation_p.F162Y	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	162					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACGGAGCCAAACACAGCCAG	0.597																																																	0													52	48	49					7																	44156828		2203	4300	6503	SO:0001583	missense	0				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"DNA polymerases"	9176	protein-coding gene	gene with protein product	"Pol delta B subunit (p50)", "DNA polymerase delta subunit p50"	600815	"polymerase (DNA directed), delta 2, regulatory subunit (50kD)", "polymerase (DNA directed), delta 2, regulatory subunit 50kDa"			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.485T>A	7.37:g.44156828A>T	ENSP00000386105:p.Phe162Tyr		A4D2J4|B2R5S4	Missense_Mutation	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.F162Y	ENST00000406581.2	37	c.485	CCDS5477.1	7	.	.	.	.	.	.	.	.	.	.	A	11.58	1.680529	0.29872	.	.	ENSG00000106628	ENST00000406581;ENST00000223361;ENST00000452185;ENST00000436844;ENST00000433715	T;T;T;T	0.41065	1.02;1.02;1.02;1.01	5.35	2.77	0.32553	.	0.814634	0.11484	N	0.559414	T	0.12178	0.0296	N	0.01009	-1.055	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31668	-0.9935	10	0.02654	T	1	22.8815	6.4337	0.21811	0.5729:0.25:0.0:0.177	.	162;162	P49005;F8W8R3	DPOD2_HUMAN;.	Y	162;162;162;80;162	ENSP00000386105:F162Y;ENSP00000223361:F162Y;ENSP00000395231:F162Y;ENSP00000416203:F80Y	ENSP00000223361:F162Y	F	-	2	0	POLD2	44123353	0.020000	0.18652	0.290000	0.24890	0.861000	0.49209	1.871000	0.39539	0.831000	0.34780	0.533000	0.62120	TTT	POLD2	-	NULL	ENSG00000106628		0.597	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2		0	35	0	A	NM_001127218		44156828	-1			no_errors	ENST00000406581	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.003	T	T	44156828	A	T	44156828	3	4	104	1	0	0	0	0	1	0	0	0	12230	14	1	5	952	5	POLD2	7	44156828	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	18965604	44156828	114981835	68	28935											
PKD1L1	168507	genome.wustl.edu	37	chr7	47955185	47955186	+	Frame_Shift_Ins	INS	-	-	A																															aactgaaaatgtaaaagatgINSaaaaaaaatacctataaaag																								rs544774439	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:47955185_47955186insA	ENST00000289672.2	-	8	1121_1122	c.1071_1072insT	c.(1069-1074)tttcatfs	p.H358fs		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	358					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						tgtaaaagatgaaaaaaaatac	0.297																																																	0										1,4263		0,1,2131						0.3	0			50	4,8250		0,4,4123	no	frameshift	PKD1L1	NM_138295.3		0,5,6254	A1A1,A1R,RR		0.0485,0.0235,0.0399				5,12513				SO:0001589	frameshift_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"polycystin-1L1"	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.1072dupT	7.37:g.47955193_47955193dupA	ENSP00000289672:p.His358fs		Q6UWK1	Frame_Shift_Ins	INS	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.H357fs	ENST00000289672.2	37	c.1072_1071	CCDS34633.1	7																																																																																			PKD1L1	-	NULL	ENSG00000158683		0.297	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1		0	22	0	0	NM_138295		47955186	-1			no_errors	ENST00000289672	ensembl	human	known	74_37	frame_shift_ins	26.67	11	4	INS	0.003:0.006	A	A	47955186	-	A	47955185	7	5	104	1	0	1	1	0	0	0	0	0	12003	1290	45	0	7677	0	PKD1L1	7	47955185	Frame_Shift_Ins	INS	-	TCGA-LN-A49R-01A-11D-A247-09	3798357	47955185	111183478	69	28936											
COBL	23242	genome.wustl.edu	37	chr7	51096150	51096150	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcctcaccacatcagcatgGacttttggggctcctatgcg	7	10	11	13	1	2	0	2	0	0	0	3	1	3	1	3	4	2	2	3	4	1	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:51096150G>C	ENST00000265136.7	-	10	2808	c.2643C>G	c.(2641-2643)gtC>gtG	p.V881V	COBL_ENST00000395542.2_Silent_p.V963V	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	881				V -> A (in Ref. 5; AAI44100). {ECO:0000305}.	actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATCAGCATGGACTTTTGGGG	0.552																																					NSCLC(189;2119 2138 12223 30818 34679)												0													132	117	122					7																	51096150		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"cordon-bleu homolog (mouse)"				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2643C>G	7.37:g.51096150G>C			A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.V963	ENST00000265136.7	37	c.2889	CCDS34637.1	7																																																																																			COBL	-	NULL	ENSG00000106078		0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	-	0	51	0	G	NM_015198		51096150	-1	tier1	-	no_errors	ENST00000395542	ensembl	human	known	74_37	silent	52.94	24	27	SNP	0.004	C	C	51096150	G	C	51096150	2	2	104	1	0	0	0	0	0	0	0	1	3660	1161	41	5		5	COBL	7	51096150	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	3140965	51096150	108042513	70	28937											
ZNF394	84124	genome.wustl.edu	37	chr7	99091249	99091249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctaaatctttccccaCattcaagacatttgtaaggc	11	15	5	10	0	3	1	1	0	2	1	4	1	4	1	2	1	0	1	2	1	4	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:99091249C>G	ENST00000337673.6	-	3	1792	c.1589G>C	c.(1588-1590)tGt>tCt	p.C530S	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF394_ENST00000394177.3_5'Flank	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	530					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTTTCCCCACATTCAAGACA	0.448																																					Ovarian(24;589 697 9939 12704 40742)												0													182	177	178					7																	99091249		2203	4300	6503	SO:0001583	missense	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1589G>C	7.37:g.99091249C>G	ENSP00000337363:p.Cys530Ser		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.C530S	ENST00000337673.6	37	c.1589	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031116	0.75504	.	.	ENSG00000160908	ENST00000337673	D	0.85861	-2.04	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000094	D	0.93877	0.8041	H	0.94582	3.555	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95096	0.8226	10	0.87932	D	0	.	13.493	0.61407	0.0:1.0:0.0:0.0	.	530	Q53GI3	ZN394_HUMAN	S	530	ENSP00000337363:C530S	ENSP00000337363:C530S	C	-	2	0	ZNF394	98929185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.638000	0.67861	2.292000	0.77174	0.655000	0.94253	TGT	ZNF394	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160908		0.448	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	HGNC	protein_coding	OTTHUMT00000336498.1	-	0	71	0	C	NM_032164		99091249	-1	tier1	-	no_errors	ENST00000337673	ensembl	human	known	74_37	missense	53.68	44	51	SNP	1.000	G	G	99091249	C	G	99091249	3	3	104	1	0	0	0	0	1	0	0	0	17928	478	17	5	100	5	ZNF394	7	99091249	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	47995099	99091249	60047414	71	28938											
TFR2	7036	genome.wustl.edu	37	chr7	100218538	100218538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcattggctgccccttgcAgcgtccaggtgagcagggct	5	8	15	13	2	0	1	0	1	0	0	1	1	1	1	3	3	4	5	3	3	0	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:100218538A>G	ENST00000462107.1	-	19	2635	c.2348T>C	c.(2347-2349)cTg>cCg	p.L783P	TFR2_ENST00000544242.1_Missense_Mutation_p.L324P|TFR2_ENST00000223051.3_Missense_Mutation_p.L783P|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	783					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TGCCCCTTGCAGCGTCCAGGT	0.637																																																	0													42	39	40					7																	100218538		2203	4300	6503	SO:0001583	missense	0			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2348T>C	7.37:g.100218538A>G	ENSP00000420525:p.Leu783Pro		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.L783P	ENST00000462107.1	37	c.2348	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269578	0.80469	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.61742	0.08;0.08;0.08	5.54	5.54	0.83059	Transferrin receptor-like, dimerisation domain (3);	0.083185	0.50627	D	0.000105	T	0.68595	0.3018	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71307	-0.4632	10	0.87932	D	0	-4.784	13.6792	0.62474	1.0:0.0:0.0:0.0	.	783	Q9UP52	TFR2_HUMAN	P	783;783;324	ENSP00000223051:L783P;ENSP00000420525:L783P;ENSP00000443656:L324P	ENSP00000223051:L783P	L	-	2	0	TFR2	100056474	0.995000	0.38212	1.000000	0.80357	0.788000	0.44548	8.131000	0.89601	2.330000	0.79161	0.528000	0.53228	CTG	TFR2	-	pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom	ENSG00000106327		0.637	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	-	0	46	0	A	NM_003227		100218538	-1	tier1	-	no_errors	ENST00000223051	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	G	G	100218538	A	G	100218538	3	3	104	1	0	0	0	0	1	0	0	0	15858	188	7	4	61	4	TFR2	7	100218538	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	1127289	100218538	58920125	72	28939											
ARMC10	83787	genome.wustl.edu	37	chr7	102738985	102738985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaaaaggttgtaacaatAatacccaaaatctgattggt	18	10	8	5	0	1	1	0	1	1	0	1	2	1	2	1	3	2	2	1	3	9	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:102738985A>G	ENST00000323716.3	+	7	1409	c.1017A>G	c.(1015-1017)atA>atG	p.I339M	ARMC10_ENST00000425331.1_Missense_Mutation_p.I280M|ARMC10_ENST00000454559.1_Missense_Mutation_p.I245M|ARMC10_ENST00000441711.2_Missense_Mutation_p.I304M|ARMC10_ENST00000541300.1_Missense_Mutation_p.I221M|ARMC10_ENST00000428183.2_Missense_Mutation_p.I280M	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	339					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTGTAACAATAATACCCAAAA	0.373																																																	0													44	46	45					7																	102738985		2178	4260	6438	SO:0001583	missense	0			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"Armadillo repeat containing"	21706	protein-coding gene	gene with protein product	"specific Splicing Variant involved in Hepatocarcinogenesis"	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.1017A>G	7.37:g.102738985A>G	ENSP00000319412:p.Ile339Met		A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.I339M	ENST00000323716.3	37	c.1017	CCDS5728.1	7	.	.	.	.	.	.	.	.	.	.	A	20.1	3.933572	0.73442	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000431642	T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.68	-6.19	0.02078	Armadillo-type fold (1);	0.268073	0.46145	N	0.000306	T	0.26268	0.0641	N	0.16656	0.425	0.09310	N	1	B;B;D;B;B;B	0.69078	0.382;0.053;0.997;0.134;0.13;0.209	B;B;D;B;B;B	0.69142	0.064;0.015;0.962;0.045;0.099;0.045	T	0.24799	-1.0150	10	0.41790	T	0.15	-5.5203	0.815	0.01100	0.2817:0.3116:0.2093:0.1974	.	280;221;245;280;304;339	B4DWJ8;F5GX65;Q8N2F6-4;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;ARM10_HUMAN	M	339;280;304;245;280;221;181	ENSP00000319412:I339M;ENSP00000396654:I280M;ENSP00000413619:I304M;ENSP00000405612:I245M;ENSP00000397969:I280M;ENSP00000440463:I221M;ENSP00000406840:I181M	ENSP00000319412:I339M	I	+	3	3	ARMC10	102526221	0.104000	0.21937	0.002000	0.10522	0.729000	0.41735	1.022000	0.30052	-0.729000	0.04875	0.482000	0.46254	ATA	ARMC10	-	superfamily_ARM-type_fold	ENSG00000170632		0.373	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1		0	39	0	A	NM_031905		102738985	1			no_errors	ENST00000323716	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	G	G	102738985	A	G	102738985	3	3	104	1	0	0	0	0	1	0	0	0	951	352	13	4	1043	4	ARMC10	7	102738985	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	2520447	102738985	56399678	73	28940											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121650743	121650743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaaactgttcttagatCtccacatatgaacttgtcgg	11	14	6	10	1	3	2	0	1	3	1	5	2	3	2	1	1	2	1	1	1	5	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:121650743C>A	ENST00000393386.2	+	12	2054	c.1643C>A	c.(1642-1644)tCt>tAt	p.S548Y	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S548Y	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	548					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTTCTTAGATCTCCACATATG	0.403																																																	0													67	64	65					7																	121650743		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1643C>A	7.37:g.121650743C>A	ENSP00000377047:p.Ser548Tyr		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S548Y	ENST00000393386.2	37	c.1643	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	0.464	-0.887709	0.02511	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.41758	1.03;0.99	5.81	-6.12	0.02124	.	0.665018	0.14466	N	0.317899	T	0.17831	0.0428	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39683	-0.9602	10	0.02654	T	1	.	8.2038	0.31441	0.6339:0.0668:0.0:0.2993	.	548;548	C9JFM0;P23471	.;PTPRZ_HUMAN	Y	548	ENSP00000377047:S548Y;ENSP00000410000:S548Y	ENSP00000377047:S548Y	S	+	2	0	PTPRZ1	121437979	0.000000	0.05858	0.012000	0.15200	0.881000	0.50899	-0.632000	0.05489	-1.341000	0.02225	-0.953000	0.02652	TCT	PTPRZ1	-	NULL	ENSG00000106278		0.403	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1		0	45	0	C	NM_002851		121650743	1			no_errors	ENST00000393386	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.001	A	A	121650743	C	A	121650743	3	1	104	1	0	0	0	0	1	0	0	0	12859	913	32	3	1689	3	PTPRZ1	7	121650743	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	18911758	121650743	37487920	74	28941											
GRM8	2918	genome.wustl.edu	37	chr7	126409920	126409920	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacgttgtaacttaccAttaaaatttacagcccgaat	15	11	4	11	2	0	0	0	0	0	0	0	1	0	0	2	0	4	2	2	0	6	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:126409920A>T	ENST00000339582.2	-	7	2164	c.1356T>A	c.(1354-1356)aaT>aaA	p.N452K	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Splice_Site_p.N452K|GRM8_ENST00000358373.3_Splice_Site_p.N452K|GRM8_ENST00000444921.2_Splice_Site_p.N452K			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	452					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTAACTTACCATTAAAATTTA	0.413										HNSCC(24;0.065)																																							0													101	94	96					7																	126409920		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1357+1T>A	7.37:g.126409920A>T			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.N452K	ENST00000339582.2	37	c.1356	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	A	12.97	2.098154	0.37048	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.78	2.15	0.27550	Extracellular ligand-binding receptor (1);	0.050245	0.85682	D	0.000000	D	0.85004	0.5598	L	0.55103	1.725	0.51482	D	0.99992	B;D;B	0.71674	0.389;0.998;0.045	B;D;B	0.80764	0.124;0.994;0.06	T	0.79650	-0.1715	10	0.09843	T	0.71	.	9.4915	0.38962	0.7268:0.0:0.2732:0.0	.	452;452;452	O00222-3;O00222-2;O00222	.;.;GRM8_HUMAN	K	452	ENSP00000344173:N452K;ENSP00000409790:N452K;ENSP00000351142:N452K;ENSP00000385731:N452K	ENSP00000344173:N452K	N	-	3	2	GRM8	126197156	0.963000	0.33076	1.000000	0.80357	0.988000	0.76386	0.291000	0.18994	0.127000	0.18452	0.533000	0.62120	AAT	GRM8	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000179603		0.413	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0	53	0	A		Missense_Mutation	126409920	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	22.22	21	6	SNP	0.994	T	T	126409920	A	T	126409920	5	4	104	1	0	0	0	0	0	0	1	0	6830	231	8	5	1440	5	GRM8	7	126409920	Splice_Site	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	4759177	126409920	32728743	75	28942											
TAS2R4	50832	genome.wustl.edu	37	chr7	141478419	141478419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagccatagaatctcctcttCtgataggattctgttcagcc	10	13	7	11	0	5	2	1	1	4	1	6	3	5	3	3	1	2	1	3	1	4	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr7:141478419C>G	ENST00000247881.2	+	1	178	c.131C>G	c.(130-132)tCt>tGt	p.S44C	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	44					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		ATCTCCTCTTCTGATAGGATT	0.388																																																	0													169	166	167					7																	141478419		2203	4300	6503	SO:0001583	missense	0			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.131C>G	7.37:g.141478419C>G	ENSP00000247881:p.Ser44Cys		Q645W5|Q75MV8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S44C	ENST00000247881.2	37	c.131	CCDS5868.1	7	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199056	0.58126	.	.	ENSG00000127364	ENST00000247881	T	0.38401	1.14	5.57	4.62	0.57501	.	0.367248	0.27856	N	0.017570	T	0.50222	0.1603	M	0.61703	1.905	0.24303	N	0.995113	D	0.71674	0.998	D	0.68192	0.956	T	0.44862	-0.9300	10	0.66056	D	0.02	.	6.3895	0.21579	0.0:0.7149:0.1873:0.0978	.	44	Q9NYW5	TA2R4_HUMAN	C	44	ENSP00000247881:S44C	ENSP00000247881:S44C	S	+	2	0	TAS2R4	141124888	0.005000	0.15991	0.937000	0.37676	0.825000	0.46686	0.351000	0.20096	2.902000	0.99343	0.650000	0.86243	TCT	TAS2R4	-	pfam_TAS2_rcpt	ENSG00000127364		0.388	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R4	HGNC	protein_coding	OTTHUMT00000349285.1	-	0	62	0	C			141478419	1	tier1	-	no_errors	ENST00000247881	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.980	G	G	141478419	C	G	141478419	3	3	104	1	0	0	0	0	1	0	0	0	15624	913	32	5	133	5	TAS2R4	7	141478419	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	15068499	141478419	17660244	76	28943											
NEFM	4741	genome.wustl.edu	37	chr8	24775457	24775457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagtcaaaagcagaagtgGggaaaggtgaacagaaagag	20	3	14	4	0	1	4	1	1	0	3	1	5	1	5	0	3	2	1	0	3	7	0	rs59726684	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr8:24775457G>T	ENST00000221166.5	+	3	2871	c.2089G>T	c.(2089-2091)Ggg>Tgg	p.G697W	NEFM_ENST00000433454.2_Missense_Mutation_p.G321W|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000437366.2_Missense_Mutation_p.G658W			P07197	NFM_HUMAN	neurofilament, medium polypeptide	697	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agcagaagtggggaaaggtga	0.453																																																	0													57	62	60					8																	24775457		2203	4300	6503	SO:0001583	missense	0			BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"Intermediate filaments type IV"	7734	protein-coding gene	gene with protein product		162250	"neurofilament, medium polypeptide 150kDa"	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2089G>T	8.37:g.24775457G>T	ENSP00000221166:p.Gly697Trp		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I	p.G697W	ENST00000221166.5	37	c.2089	CCDS6046.1	8	.	.	.	.	.	.	.	.	.	.	G	6.646	0.487609	0.12641	.	.	ENSG00000104722	ENST00000221166;ENST00000437366;ENST00000433454	D;D;D	0.94232	-1.8;-1.67;-3.38	3.31	-0.908	0.10517	.	1.331490	0.05366	N	0.534543	D	0.83505	0.5269	N	0.19112	0.55	0.09310	N	1	P	0.44006	0.824	B	0.30251	0.113	T	0.75596	-0.3263	10	0.66056	D	0.02	.	4.7715	0.13158	0.4719:0.1587:0.3695:0.0	.	697	P07197	NFM_HUMAN	W	697;658;321	ENSP00000221166:G697W;ENSP00000410137:G658W;ENSP00000412295:G321W	ENSP00000221166:G697W	G	+	1	0	NEFM	24831362	0.000000	0.05858	0.000000	0.03702	0.649000	0.38597	-0.320000	0.08028	-0.615000	0.05679	0.205000	0.17691	GGG	NEFM	-	NULL	ENSG00000104722		0.453	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEFM	HGNC	protein_coding	OTTHUMT00000254954.2		0	21	0	G	NM_005382		24775457	1			no_errors	ENST00000221166	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.000	T	T	24775457	G	T	24775457	3	4	104	1	0	0	0	0	1	0	0	0	10355	1232	43	3	2099	3	NEFM	8	24775457	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		24775457	121588565	77	28944											
POP1	10940	genome.wustl.edu	37	chr8	99139945	99139945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaagggaggatggaaaGcaggtcccgagggcacgtct	14	4	16	7	2	1	0	0	0	1	0	2	5	2	3	1	5	1	2	1	5	4	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr8:99139945G>T	ENST00000401707.2	+	3	346	c.265G>T	c.(265-267)Gca>Tca	p.A89S	POP1_ENST00000349693.3_Missense_Mutation_p.A89S	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	89					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AGGATGGAAAGCAGGTCCCGA	0.488																																																	0													112	109	110					8																	99139945		2203	4300	6503	SO:0001583	missense	0			D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"processing of precursors 1"	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.265G>T	8.37:g.99139945G>T	ENSP00000385787:p.Ala89Ser		A8K5W9|Q15037	Missense_Mutation	SNP	pfam_RNase_P/MRP_POP1,pfam_POPLD	p.A89S	ENST00000401707.2	37	c.265	CCDS6277.1	8	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020684	0.54576	.	.	ENSG00000104356	ENST00000522319;ENST00000401707;ENST00000349693	T;T;T	0.43294	0.95;1.28;1.28	6.08	5.21	0.72293	.	0.135866	0.49916	D	0.000122	T	0.29028	0.0721	L	0.29908	0.895	0.26699	N	0.971193	B	0.20780	0.048	B	0.20577	0.03	T	0.17018	-1.0383	10	0.09338	T	0.73	-12.8456	12.5463	0.56201	0.0771:0.0:0.9229:0.0	.	89	Q99575	POP1_HUMAN	S	89	ENSP00000428945:A89S;ENSP00000385787:A89S;ENSP00000339529:A89S	ENSP00000339529:A89S	A	+	1	0	POP1	99209121	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.257000	0.51500	1.584000	0.49913	0.591000	0.81541	GCA	POP1	-	NULL	ENSG00000104356		0.488	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POP1	HGNC	protein_coding	OTTHUMT00000379470.1	-	0	38	0	G	NM_015029		99139945	1	tier1	-	no_errors	ENST00000349693	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	99139945	G	T	99139945	3	4	104	1	0	0	0	0	1	0	0	0	12290	971	34	3	271	3	POP1	8	99139945	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	74364488	99139945	47224077	78	28945											
NUDCD1	84955	genome.wustl.edu	37	chr8	110305659	110305659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcctctttctctattcgaAgaagtagggtagctatagaa	12	14	8	7	1	2	2	0	0	2	2	5	3	3	2	1	1	1	3	1	1	8	8			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr8:110305659A>G	ENST00000239690.4	-	4	928	c.554T>C	c.(553-555)cTt>cCt	p.L185P	NUDCD1_ENST00000427660.2_Missense_Mutation_p.L156P	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTCTATTCGAAGAAGTAGGGT	0.343																																																	0													132	138	136					8																	110305659		2203	4300	6503	SO:0001583	missense	0			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.554T>C	8.37:g.110305659A>G	ENSP00000239690:p.Leu185Pro			Missense_Mutation	SNP	pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom	p.L185P	ENST00000239690.4	37	c.554	CCDS6312.1	8	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140152	0.77775	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.20881	2.05;2.04	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.46190	0.1380	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.982;0.997	T	0.41106	-0.9527	10	0.66056	D	0.02	-6.8048	15.5755	0.76380	1.0:0.0:0.0:0.0	.	98;185;156	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	P	185;156	ENSP00000239690:L185P;ENSP00000410707:L156P	ENSP00000239690:L185P	L	-	2	0	NUDCD1	110374835	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.506000	0.81665	2.281000	0.76405	0.533000	0.62120	CTT	NUDCD1	-	NULL	ENSG00000120526		0.343	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD1	HGNC	protein_coding	OTTHUMT00000380996.1	-	0	31	0	A	NM_032869		110305659	-1	tier1	-	no_errors	ENST00000239690	ensembl	human	known	74_37	missense	13.16	33	5	SNP	1.000	G	G	110305659	A	G	110305659	3	3	104	1	0	0	0	0	1	0	0	0	10761	72	3	4	1225	4	NUDCD1	8	110305659	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	11165714	110305659	36058363	79	28946											
CSMD3	114788	genome.wustl.edu	37	chr8	113678609	113678609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctggtgagagaatcaCtccactgggagctgaaaaat	13	8	10	10	0	1	3	1	2	0	1	3	5	3	4	3	2	1	1	3	2	3	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr8:113678609C>A	ENST00000297405.5	-	17	2957	c.2713G>T	c.(2713-2715)Gtg>Ttg	p.V905L	CSMD3_ENST00000455883.2_Missense_Mutation_p.V801L|CSMD3_ENST00000352409.3_Missense_Mutation_p.V905L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V865L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	905	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGAGAATCACTCCACTGGGA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													56	54	55					8																	113678609		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2713G>T	8.37:g.113678609C>A	ENSP00000297405:p.Val905Leu		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.V905L	ENST00000297405.5	37	c.2713	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784184	0.49997	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	6.1	2.12	0.27331	CUB (5);	0.086288	0.46145	N	0.000308	T	0.46541	0.1398	L	0.48935	1.535	0.26346	N	0.977288	B;B;B	0.11235	0.001;0.004;0.0	B;B;B	0.23574	0.009;0.047;0.011	T	0.33675	-0.9859	10	0.09084	T	0.74	.	12.2335	0.54500	0.1563:0.6491:0.1946:0.0	.	801;905;865	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	865;905;245;801;905	ENSP00000345799:V865L;ENSP00000297405:V905L;ENSP00000341558:V245L;ENSP00000412263:V801L;ENSP00000343124:V905L	ENSP00000297405:V905L	V	-	1	0	CSMD3	113747785	0.998000	0.40836	0.975000	0.42487	0.998000	0.95712	1.515000	0.35845	0.094000	0.17404	0.650000	0.86243	GTG	CSMD3	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	35	0	C	NM_052900		113678609	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	34.43	40	21	SNP	1.000	A	A	113678609	C	A	113678609	3	1	104	1	0	0	0	0	1	0	0	0	3955	565	20	3	8630	3	CSMD3	8	113678609	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	3372950	113678609	32685413	80	28947											
PHF20L1	51105	genome.wustl.edu	37	chr8	133806767	133806767	+	Frame_Shift_Del	DEL	G	G	-																															tactgggatagcaatagattGcgaccccttgagagaccagc																										TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr8:133806767delG	ENST00000395386.2	+	3	494	c.195delG	c.(193-195)ttgfs	p.L65fs	PHF20L1_ENST00000337920.4_Frame_Shift_Del_p.L65fs|PHF20L1_ENST00000395376.1_Frame_Shift_Del_p.L65fs|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.L65fs|PHF20L1_ENST00000395379.1_Frame_Shift_Del_p.L65fs	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	65	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCAATAGATTGCGACCCCTTG	0.408																																																	0													127	116	120					8																	133806767		2203	4300	6503	SO:0001589	frameshift_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"Tudor domain containing", "Zinc fingers, PHD-type"	24280	protein-coding gene	gene with protein product	"tudor domain containing 20B"					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.195delG	8.37:g.133806767delG	ENSP00000378784:p.Leu65fs		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Del	DEL	pfam_DUF3776,smart_Tudor,smart_Tudor-like_plant	p.L65fs	ENST00000395386.2	37	c.195	CCDS6367.2	8																																																																																			PHF20L1	-	smart_Tudor,smart_Tudor-like_plant	ENSG00000129292		0.408	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3		0	51	0	G	NM_016018		133806767	1	tier1		no_errors	ENST00000486199	ensembl	human	known	74_37	frame_shift_del	55.45	45	56	DEL	0.999	-	-	133806767	G	-	133806767	7	5	104	1	0	1	0	1	0	0	0	0	11871	1310	46	0	201	0	PHF20L1	8	133806767	Frame_Shift_Del	DEL	G	TCGA-LN-A49R-01A-11D-A247-09	20128158	133806767	12557255	81	28948											
CDKN2A	1029	genome.wustl.edu	37	chr9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcccgggcagcgtcgtGcacgggtcgggtgagagtgg	4	6	19	12	5	0	1	0	1	0	1	3	2	1	1	2	4	2	2	2	4	0	0	rs121913385		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(284)|skin(175)|central_nervous_system(171)|lung(154)|urinary_tract(93)|bone(74)|oesophagus(59)|soft_tissue(58)|upper_aerodigestive_tract(56)|pleura(51)|ovary(36)|pancreas(34)|breast(33)|kidney(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385						12	15	14					9																	21971111		2176	4259	6435	SO:0001583	missense	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.247C>T	9.37:g.21971111G>A	ENSP00000307101:p.His83Tyr		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	pfam_Cyclin_kinase-Inhib_2A	p.A138V	ENST00000304494.5	37	c.413	CCDS6510.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC	CDKN2A	-	NULL	ENSG00000147889		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0	12	0	G	NM_000077		21971111	-1	tier1	rs121913385	no_errors	ENST00000361570	ensembl	human	known	74_37	missense	91.67	1	11	SNP	1.000	A	A	21971111	G	A	21971111	3	1	104	1	0	0	0	0	1	0	0	0	3168	1319	46	3	231	3	CDKN2A	9	21971111	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		21971111	119242320	82	28949											
GOLM1	51280	genome.wustl.edu	37	chr9	88650485	88650485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcccggcctggctcctgCggcagcctgtccctctgagg	2	9	13	17	2	1	1	0	1	1	0	4	1	4	1	5	4	3	3	5	4	0	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr9:88650485C>T	ENST00000388712.3	-	8	981	c.813G>A	c.(811-813)ccG>ccA	p.P271P	GOLM1_ENST00000257504.6_5'Flank|GOLM1_ENST00000388711.3_Silent_p.P271P	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	271					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGGCTCCTGCGGCAGCCTGT	0.597											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													135	147	143					9																	88650485		2203	4300	6503	SO:0001819	synonymous_variant	0			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"golgi phosphoprotein 2", "chromosome 9 open reading frame 155"	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.813G>A	9.37:g.88650485C>T		1261	Q6IAF4|Q9NRB9	Silent	SNP	NULL	p.P271	ENST00000388712.3	37	c.813	CCDS35054.1	9																																																																																			GOLM1	-	NULL	ENSG00000135052		0.597	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2	-	0	47	0	C	NM_177937		88650485	-1	tier1	-	no_errors	ENST00000388711	ensembl	human	known	74_37	silent	88.89	3	24	SNP	0.000	T	T	88650485	C	T	88650485	2	4	104	1	0	0	0	0	0	0	0	1	6593	755	27	1		1	GOLM1	9	88650485	Silent	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	66679374	88650485	52562946	83	28950											
PTCH1	5727	genome.wustl.edu	37	chr9	98242324	98242324	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagtgcatatactttcTggataagccatgacatccac	11	11	7	12	0	1	1	0	1	1	0	2	2	2	2	3	1	4	1	3	1	3	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr9:98242324T>A	ENST00000331920.6	-	7	1293	c.994A>T	c.(994-996)Aga>Tga	p.R332*	PTCH1_ENST00000430669.2_Nonsense_Mutation_p.R266*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.R181*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.R331*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.R181*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.R181*|PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.R266*	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	332					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R332*(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATATACTTTCTGGATAAGCCA	0.448																																																	1	Substitution - Nonsense(1)	skin(1)											157	144	148					9																	98242324		2203	4300	6503	SO:0001587	stop_gained	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.994A>T	9.37:g.98242324T>A	ENSP00000332353:p.Arg332*		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Nonsense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.R332*	ENST00000331920.6	37	c.994	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	T	37	6.180490	0.97352	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271;ENST00000548420	.	.	.	5.97	-1.1	0.09872	.	0.083884	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-13.0811	17.4185	0.87507	0.0:0.0:0.4907:0.5093	.	.	.	.	X	332;266;181;181;266;181;331;49;52	.	ENSP00000332353:R332X	R	-	1	2	PTCH1	97282145	1.000000	0.71417	0.641000	0.29422	0.682000	0.39822	2.087000	0.41653	-0.376000	0.07943	-1.255000	0.01485	AGA	PTCH1	-	tigrfam_TM_rcpt_patched	ENSG00000185920		0.448	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0	28	0	T	NM_000264		98242324	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	nonsense	80.00	6	24	SNP	0.596	A	A	98242324	T	A	98242324	4	1	104	1	0	0	0	0	0	1	0	0	12772	1588	55	5	3417	5	PTCH1	9	98242324	Nonsense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	9591839	98242324	42971107	84	28951											
CEL	1056	genome.wustl.edu	37	chr9	135945858	135945858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctccaggagtgccaagAcctacgcctacctgttttcc	7	10	7	17	1	0	1	0	0	0	1	3	2	3	2	8	1	3	1	8	1	3	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr9:135945858A>G	ENST00000372080.4	+	10	1322	c.1306A>G	c.(1306-1308)Acc>Gcc	p.T436A	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	433					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAGTGCCAAGACCTACGCCTA	0.617																																																	0													43	44	43					9																	135945858		1852	4081	5933	SO:0001583	missense	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1306A>G	9.37:g.135945858A>G	ENSP00000361151:p.Thr436Ala		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T436A	ENST00000372080.4	37	c.1306	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	A	14.52	2.558834	0.45590	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.59906	0.23	5.74	3.39	0.38822	Carboxylesterase, type B (1);	0.045671	0.85682	D	0.000000	T	0.67239	0.2872	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.65191	-0.6228	10	0.56958	D	0.05	.	9.7795	0.40640	0.8595:0.0:0.1405:0.0	.	433	P19835	CEL_HUMAN	A	436;435	ENSP00000361151:T436A	ENSP00000304021:T435A	T	+	1	0	CEL	134935679	1.000000	0.71417	0.093000	0.20910	0.158000	0.22134	8.640000	0.91028	0.439000	0.26476	-0.512000	0.04463	ACC	CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.617	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0	25	0	A			135945858	1	tier1	-	no_errors	ENST00000372080	ensembl	human	known	74_37	missense	49.12	29	28	SNP	0.996	G	G	135945858	A	G	135945858	3	3	104	1	0	0	0	0	1	0	0	0	3216	275	10	4	1344	4	CEL	9	135945858	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	37703534	135945858	5267573	85	28952											
NELF	26012	genome.wustl.edu	37	chr9	140346852	140346852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattttccagatcttggctcCcttgtggtagacgttcagct	6	15	9	11	1	2	2	1	0	1	2	4	2	4	2	2	2	1	4	2	2	1	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr9:140346852C>G	ENST00000371475.3	-	12	1432	c.1201G>C	c.(1201-1203)Gga>Cga	p.G401R	NSMF_ENST00000437259.1_Missense_Mutation_p.G378R|NSMF_ENST00000265663.7_Missense_Mutation_p.G399R|NSMF_ENST00000371473.3_Missense_Mutation_p.G371R|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371474.3_Missense_Mutation_p.G376R|NSMF_ENST00000541195.1_Missense_Mutation_p.G198R|NSMF_ENST00000371482.1_Missense_Mutation_p.G65R|NSMF_ENST00000392812.4_Missense_Mutation_p.G378R|NSMF_ENST00000339554.3_Missense_Mutation_p.G198R|NSMF_ENST00000371472.2_Missense_Mutation_p.G399R	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	401					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										ATCTTGGCTCCCTTGTGGTAG	0.612																																																	0													187	168	174					9																	140346852		2200	4298	6498	SO:0001583	missense	0				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"nasal embryonic LHRH factor"	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1201G>C	9.37:g.140346852C>G	ENSP00000360530:p.Gly401Arg		Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.G401R	ENST00000371475.3	37	c.1201	CCDS48069.1	9	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825811	0.90955	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371482;ENST00000371472;ENST00000541195	T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;0.999;0.999	T	0.64110	-0.6484	10	0.87932	D	0	-9.3929	15.0992	0.72258	0.0:1.0:0.0:0.0	.	378;198;152;376;371;401;399	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	R	198;401;399;378;378;376;371;65;399;198	ENSP00000342966:G198R;ENSP00000360530:G401R;ENSP00000265663:G399R;ENSP00000412007:G378R;ENSP00000376559:G378R;ENSP00000360529:G376R;ENSP00000360528:G371R;ENSP00000360537:G65R;ENSP00000360527:G399R;ENSP00000444177:G198R	ENSP00000265663:G399R	G	-	1	0	NELF	139466673	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.329000	0.79170	2.434000	0.82447	0.455000	0.32223	GGA	NSMF	-	NULL	ENSG00000165802		0.612	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NSMF	HGNC	protein_coding		-	0	33	0	C	NM_015537		140346852	-1	tier1	-	no_errors	ENST00000371475	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	G	G	140346852	C	G	140346852	3	3	104	1	0	0	0	0	1	0	0	0	10371	632	22	5	411	5	NELF	9	140346852	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	4400994	140346852	866579	86	28953											
RPP38	10557	genome.wustl.edu	37	chr10	15145535	15145535	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacaccttttctgaaaaaAgaaagcagagagaaatgcag	21	6	8	6	0	1	4	0	1	1	3	1	5	1	4	1	0	3	2	1	0	7	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:15145535A>T	ENST00000378197.4	+	3	736	c.222A>T	c.(220-222)aaA>aaT	p.K74N	RPP38_ENST00000378202.5_Missense_Mutation_p.K74N|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	74					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TTCTGAAAAAAGAAAGCAGAG	0.413																																					GBM(118;1591 1611 9649 34378 50720)												0													50	52	52					10																	15145535		2203	4300	6503	SO:0001583	missense	0			U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.222A>T	10.37:g.15145535A>T	ENSP00000367439:p.Lys74Asn		B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.K74N	ENST00000378197.4	37	c.222	CCDS7108.1	10	.	.	.	.	.	.	.	.	.	.	A	8.165	0.790320	0.16258	.	.	ENSG00000152464	ENST00000378203;ENST00000378201;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.26067	2.73;2.73;2.73;1.76	4.82	-5.54	0.02544	.	0.396184	0.26991	N	0.021476	T	0.14830	0.0358	L	0.50919	1.6	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10314	-1.0635	10	0.49607	T	0.09	-4.5707	2.3662	0.04319	0.517:0.2081:0.1722:0.1027	.	74	P78345	RPP38_HUMAN	N	74	ENSP00000367445:K74N;ENSP00000367444:K74N;ENSP00000367439:K74N;ENSP00000402635:K74N	ENSP00000367439:K74N	K	+	3	2	RPP38	15185541	0.071000	0.21146	0.000000	0.03702	0.002000	0.02628	0.164000	0.16542	-0.881000	0.03992	0.528000	0.53228	AAA	RPP38	-	NULL	ENSG00000152464		0.413	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPP38	HGNC	protein_coding	OTTHUMT00000046976.1		0	11	0	A	NM_006414		15145535	1			no_errors	ENST00000378197	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.000	T	T	15145535	A	T	15145535	3	4	104	1	0	0	0	0	1	0	0	0	13658	69	3	5	224	5	RPP38	10	15145535	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09		15145535	120389212	87	28954											
DNAJC1	64215	genome.wustl.edu	37	chr10	22208845	22208845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttttctctcttttttctaCttagtagttcatccttaatg	6	23	3	9	0	5	0	1	0	4	0	7	0	6	0	1	0	1	2	1	0	4	10			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:22208845C>A	ENST00000376980.3	-	5	841	c.551G>T	c.(550-552)aGt>aTt	p.S184I		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	184					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				CTTTTTTCTACTTAGTAGTTC	0.338																																																	0													81	85	84					10																	22208845		2201	4292	6493	SO:0001583	missense	0			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"Heat shock proteins / DNAJ (HSP40)"	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.551G>T	10.37:g.22208845C>A	ENSP00000366179:p.Ser184Ile		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.S184I	ENST00000376980.3	37	c.551	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914978	0.72983	.	.	ENSG00000136770	ENST00000376980	T	0.55052	0.54	5.7	5.7	0.88788	.	0.160788	0.64402	D	0.000001	T	0.68403	0.2997	M	0.67953	2.075	0.80722	D	1	D	0.62365	0.991	P	0.57620	0.824	T	0.67983	-0.5529	10	0.49607	T	0.09	-1.3244	19.8436	0.96701	0.0:1.0:0.0:0.0	.	184	Q96KC8	DNJC1_HUMAN	I	184	ENSP00000366179:S184I	ENSP00000366179:S184I	S	-	2	0	DNAJC1	22248851	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.282000	0.51693	2.695000	0.91970	0.650000	0.86243	AGT	DNAJC1	-	NULL	ENSG00000136770		0.338	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	-	0	28	0	C	NM_022365		22208845	-1	tier1	-	no_errors	ENST00000376980	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	A	A	22208845	C	A	22208845	3	1	104	1	0	0	0	0	1	0	0	0	4642	565	20	3	1145	3	DNAJC1	10	22208845	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	7063310	22208845	113325902	88	28955											
ARHGAP21	57584	genome.wustl.edu	37	chr10	24874807	24874807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctttggcaatgatgaTcttctgttttctgcccagtg	5	19	9	8	0	4	2	0	2	4	0	4	2	4	2	1	1	1	3	1	1	1	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:24874807T>C	ENST00000396432.2	-	26	4897	c.4411A>G	c.(4411-4413)Atc>Gtc	p.I1471V		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1470					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCAATGATGATCTTCTGTTTT	0.398																																																	0													256	239	245					10																	24874807		2203	4300	6503	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"Rho GTPase activating proteins", "Pleckstrin homology (PH) domain containing"	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4411A>G	10.37:g.24874807T>C	ENSP00000379709:p.Ile1471Val		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.I1471V	ENST00000396432.2	37	c.4411	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	T	8.715	0.912874	0.17907	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.09445	2.98	4.83	-7.54	0.01332	.	2.258190	0.01301	N	0.010313	T	0.02533	0.0077	N	0.00583	-1.355	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.40098	-0.9581	10	0.17369	T	0.5	.	7.0999	0.25332	0.0:0.343:0.3397:0.3173	.	1470	Q5T5U3	RHG21_HUMAN	V	1471;920	ENSP00000379709:I1471V	ENSP00000379709:I1471V	I	-	1	0	ARHGAP21	24914813	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.885000	0.04161	-1.711000	0.01395	0.482000	0.46254	ATC	ARHGAP21	-	NULL	ENSG00000107863		0.398	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	-	0	147	0	T	NM_020824		24874807	-1	tier1	-	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	26.36	176	63	SNP	0.000	C	C	24874807	T	C	24874807	3	2	104	1	0	0	0	0	1	0	0	0	871	1435	50	4	1469	4	ARHGAP21	10	24874807	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	2665962	24874807	110659940	89	28956											
ITGB1	3688	genome.wustl.edu	37	chr10	33196044	33196044	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggattcttgaaattattaaTaggactcttgtaaatcggat	13	16	8	4	1	2	1	0	1	2	0	3	4	2	4	0	3	0	1	0	3	6	7			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:33196044T>C	ENST00000396033.2	-	15	2467				ITGB1_ENST00000374956.4_Intron|ITGB1_ENST00000423113.1_Missense_Mutation_p.I787V|ITGB1_ENST00000302278.3_Intron	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)						axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	AAATTATTAATAGGACTCTTG	0.313																																																	0													141	147	145					10																	33196044		2203	4300	6503	SO:0001627	intron_variant	0			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"CD molecules", "Integrins"	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2331+1251A>G	10.37:g.33196044T>C			A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.I787V	ENST00000396033.2	37	c.2359	CCDS7174.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.994|5.994	0.367262|0.367262	0.11352|0.11352	.|.	.|.	ENSG00000150093|ENSG00000150093	ENST00000423113|ENST00000488427	D|.	0.87729|.	-2.29|.	6.06|6.06	4.94|4.94	0.65067|0.65067	.|.	.|.	.|.	.|.	.|.	T|T	0.40196|0.40196	0.1107|0.1107	.|.	.|.	.|.	0.19945|0.19945	N|N	0.999945|0.999945	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.24764|0.24764	-1.0151|-1.0151	8|4	0.27785|.	T|.	0.31|.	.|.	10.7235|10.7235	0.46055|0.46055	0.0:0.0714:0.0:0.9286|0.0:0.0714:0.0:0.9286	.|.	787|.	P05556-5|.	.|.	V|C	787|55	ENSP00000388694:I787V|.	ENSP00000388694:I787V|.	I|Y	-|-	1|2	0|0	ITGB1|ITGB1	33236050|33236050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.288000|6.288000	0.72679|0.72679	1.126000|1.126000	0.42016|0.42016	0.528000|0.528000	0.53228|0.53228	ATT|TAT	ITGB1	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt_dom,prints_Integrin_bsu	ENSG00000150093		0.313	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGB1	HGNC	protein_coding	OTTHUMT00000047496.1	-	0	34	0	T	NM_002211		33196044	-1	tier1	-	no_errors	ENST00000423113	ensembl	human	known	74_37	missense	72.73	9	24	SNP	1.000	C	C	33196044	T	C	33196044	1	2	104	0	1	0	0	0	0	0	0	0	7917	1406	49	4		4	ITGB1	10	33196044	Intron	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	8321237	33196044	102338703	90	28957											
CSGALNACT2	55454	genome.wustl.edu	37	chr10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacaagggagaggtcttGatgtttttctgtgatgttga	8	15	15	3	0	2	4	0	3	2	1	2	6	2	5	0	3	0	2	0	3	1	4	rs79064394		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:43659419G>T	ENST00000374466.3	+	5	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	362					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.L362F(5)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433																																																	5	Substitution - Missense(5)	endometrium(4)|kidney(1)											223	221	222					10																	43659419		2203	4300	6503	SO:0001583	missense	0			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"Beta 4-glycosyltransferases"	24292	protein-coding gene	gene with protein product	"chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1086G>T	10.37:g.43659419G>T	ENSP00000363590:p.Leu362Phe		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.L362F	ENST00000374466.3	37	c.1086	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499782	0.85176	.	.	ENSG00000169826	ENST00000374466	T	0.27256	1.68	6.08	5.17	0.71159	.	0.064535	0.64402	D	0.000004	T	0.57359	0.2048	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63721	-0.6573	10	0.87932	D	0	-11.7375	14.8306	0.70146	0.0683:0.0:0.9317:0.0	.	362	Q8N6G5	CGAT2_HUMAN	F	362	ENSP00000363590:L362F	ENSP00000363590:L362F	L	+	3	2	CSGALNACT2	42979425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	2.894000	0.99253	0.591000	0.81541	TTG	CSGALNACT2	-	pfam_Chond_GalNAc	ENSG00000169826		0.433	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1		0	68	0	G	NM_018590		43659419	1			no_errors	ENST00000374466	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	43659419	G	T	43659419	3	4	104	1	0	0	0	0	1	0	0	0	3948	1281	45	3	1100	3	CSGALNACT2	10	43659419	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	10463375	43659419	91875328	91	28958											
EGR2	1959	genome.wustl.edu	37	chr10	64575631	64575631	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcttacctccggccacTccgttcatctggtcaaaggg	6	9	11	15	4	3	0	2	0	1	0	5	0	5	0	4	4	1	2	4	4	2	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:64575631T>G	ENST00000242480.3	-	1	484	c.159A>C	c.(157-159)ggA>ggC	p.G53G	EGR2_ENST00000411732.1_Silent_p.G3G|EGR2_ENST00000439032.1_Silent_p.G53G|EGR2_ENST00000493899.2_5'UTR	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	53					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCCGGCCACTCCGTTCATCT	0.647																																																	0													62	60	61					10																	64575631		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"Zinc fingers, C2H2-type"	3239	protein-coding gene	gene with protein product	"Krox-20 homolog, Drosophila"	129010	"early growth response 2 (Krox-20 homolog, Drosophila)"	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.159A>C	10.37:g.64575631T>G			B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G53	ENST00000242480.3	37	c.159	CCDS7267.1	10																																																																																			EGR2	-	NULL	ENSG00000122877		0.647	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	HGNC	protein_coding	OTTHUMT00000048245.2	-	0	16	0	T	NM_000399		64575631	-1	tier1	-	no_errors	ENST00000242480	ensembl	human	known	74_37	silent	93.33	1	14	SNP	1.000	G	G	64575631	T	G	64575631	2	3	104	1	0	0	0	0	0	0	0	1	4986	1538	54	4		4	EGR2	10	64575631	Silent	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	20916212	64575631	70959116	92	28959											
TAF5	6877	genome.wustl.edu	37	chr10	105147814	105147814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatcaaagcctttgaagAtttagagaccgatgacttta	13	13	8	7	1	1	4	1	2	0	2	1	6	1	4	2	0	2	1	2	0	5	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:105147814A>G	ENST00000369839.3	+	11	2260	c.2237A>G	c.(2236-2238)gAt>gGt	p.D746G	TAF5_ENST00000351396.4_Missense_Mutation_p.D691G	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	746					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GCCTTTGAAGATTTAGAGACC	0.373																																																	0													129	129	129					10																	105147814		2203	4300	6503	SO:0001583	missense	0			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"WD repeat domain containing"	11539	protein-coding gene	gene with protein product		601787	"TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2237A>G	10.37:g.105147814A>G	ENSP00000358854:p.Asp746Gly		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D746G	ENST00000369839.3	37	c.2237	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	A	17.35	3.367941	0.61513	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.57752	0.58;0.38	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.55481	1.735	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.58013	0.831;0.76	T	0.67352	-0.5692	10	0.66056	D	0.02	-14.7564	16.1299	0.81422	1.0:0.0:0.0:0.0	.	691;746	Q15542-2;Q15542	.;TAF5_HUMAN	G	746;691	ENSP00000358854:D746G;ENSP00000311024:D691G	ENSP00000311024:D691G	D	+	2	0	TAF5	105137804	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.946000	0.92992	2.213000	0.71641	0.455000	0.32223	GAT	TAF5	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000148835		0.373	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	-	0	32	0	A			105147814	1	tier1	-	no_errors	ENST00000369839	ensembl	human	known	74_37	missense	78.57	6	22	SNP	1.000	G	G	105147814	A	G	105147814	3	3	104	1	0	0	0	0	1	0	0	0	15575	333	12	4	2279	4	TAF5	10	105147814	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	40572183	105147814	30386933	93	28960											
COL17A1	1308	genome.wustl.edu	37	chr10	105792467	105792468	+	Frame_Shift_Ins	INS	-	-	CA																															tcccttgtgtcctcgagggcINScaggtggcccaggatgacct																										TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr10:105792467_105792468insCA	ENST00000353479.5	-	55	4692_4693	c.4402_4403insTG	c.(4402-4404)ggcfs	p.G1468fs	COL17A1_ENST00000369733.3_Frame_Shift_Ins_p.G1386fs	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1468	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCCTCGAGGGCCAGGTGGCCCA	0.55																																																	0																																										SO:0001589	frameshift_variant	0			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"Collagens"	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.4401_4402dupTG	10.37:g.105792468_105792469dupCA	ENSP00000340937:p.Gly1468fs		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Frame_Shift_Ins	INS	pfam_Collagen	p.G1468fs	ENST00000353479.5	37	c.4403_4402	CCDS7554.1	10																																																																																			COL17A1	-	pfam_Collagen	ENSG00000065618		0.55	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1		0	51	0	-	NM_130778, NM_000494		105792468	-1	tier1		no_errors	ENST00000353479	ensembl	human	known	74_37	frame_shift_ins	72.22	10	26	INS	1.000:0.998	CA	CA	105792468	-	CA	105792467	7	5	104	1	0	1	1	0	0	0	0	0	3681	739	26	0	98	0	COL17A1	10	105792467	Frame_Shift_Ins	INS	-	TCGA-LN-A49R-01A-11D-A247-09	644653	105792467	29742280	94	28961											
EFCAB4A	283229	genome.wustl.edu	37	chr11	829507	829508	+	Frame_Shift_Ins	INS	-	-	G																															gagcgattccacactgtgctINSggagcagctgggggtggccc																										TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr11:829507_829508insG	ENST00000525077.1	+	3	526_527	c.425_426insG	c.(424-429)ctggagfs	p.E143fs	AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000450448.1_Frame_Shift_Ins_p.E143fs|EFCAB4A_ENST00000528542.2_Frame_Shift_Ins_p.E143fs			Q8N4Y2	EFC4A_HUMAN		143					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACACTGTGCTGGAGCAGCTGG	0.673																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000525077.1:c.427dupG	11.37:g.829509_829509dupG	ENSP00000435299:p.Glu143fs		D5LPR2|Q8NBW8	Frame_Shift_Ins	INS	pfscan_EF_hand_dom	p.E143fs	ENST00000525077.1	37	c.425_426		11																																																																																			EFCAB4A	-	NULL	ENSG00000177685		0.673	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	HGNC	protein_coding	OTTHUMT00000383097.1		0	58	0	-			829508	1	tier1		no_errors	ENST00000450448	ensembl	human	known	74_37	frame_shift_ins	18.87	43	10	INS	0.928:0.997	G	G	829508	-	G	829507	7	5	104	1	0	1	1	0	0	0	0	0	4950	1580	55	0	435	0	EFCAB4A	11	829507	Frame_Shift_Ins	INS	-	TCGA-LN-A49R-01A-11D-A247-09		829507	134177009	95	28962											
UBE2L6	9246	genome.wustl.edu	37	chr11	57322082	57322082	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggttgaaggctttcaggtgGtagggaggttggtcctgtgc	6	12	18	5	0	1	1	1	1	0	0	2	2	2	2	1	7	1	4	1	7	2	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr11:57322082G>T	ENST00000287156.4	-	3	333	c.138C>A	c.(136-138)taC>taA	p.Y46*	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	46					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						CTTTCAGGTGGTAGGGAGGTT	0.557																																																	0													118	113	115					11																	57322082		2201	4296	6497	SO:0001587	stop_gained	0			AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"Ubiquitin-conjugating enzymes E2"	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.138C>A	11.37:g.57322082G>T	ENSP00000287156:p.Tyr46*		A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Nonsense_Mutation	SNP	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.Y46*	ENST00000287156.4	37	c.138	CCDS7960.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.733292	0.96865	.	.	ENSG00000156587	ENST00000287156;ENST00000526659	.	.	.	6.06	3.17	0.36434	.	0.000000	0.51477	D	0.000081	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3419	0.32249	0.3099:0.0:0.6901:0.0	.	.	.	.	X	46;53	.	ENSP00000287156:Y46X	Y	-	3	2	UBE2L6	57078658	0.981000	0.34729	0.975000	0.42487	0.962000	0.63368	0.405000	0.21015	0.435000	0.26365	0.655000	0.94253	TAC	UBE2L6	-	pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000156587		0.557	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2L6	HGNC	protein_coding	OTTHUMT00000392657.1	-	0	106	0	G	NM_004223		57322082	-1	tier1	-	no_errors	ENST00000287156	ensembl	human	known	74_37	nonsense	33.33	64	32	SNP	1.000	T	T	57322082	G	T	57322082	4	4	104	1	0	0	0	0	0	1	0	0	16913	1256	44	3	331	3	UBE2L6	11	57322082	Nonsense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	56492575	57322082	77684434	96	28963											
FOLR3	2352	genome.wustl.edu	37	chr11	71847151	71847151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcccagccccgaggaCgagctgtatggccaggtgag	10	4	14	13	2	0	1	0	1	0	0	0	4	0	2	4	3	3	2	4	3	1	1	rs151190708	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr11:71847151C>A	ENST00000445078.2	+	2	218	c.147C>A	c.(145-147)gaC>gaA	p.D49E	FOLR3_ENST00000456237.1_Missense_Mutation_p.D51E|FOLR3_ENST00000442948.2_Missense_Mutation_p.D51E			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	49					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GCCCCGAGGACGAGCTGTATG	0.637																																																	0													92	95	94					11																	71847151		2200	4293	6493	SO:0001583	missense	0			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.147C>A	11.37:g.71847151C>A	ENSP00000390338:p.Asp49Glu		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.D51E	ENST00000445078.2	37	c.153		11	.	.	.	.	.	.	.	.	.	.	N	14.76	2.631512	0.46944	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948;ENST00000546166	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	3.8	-1.56	0.08532	Folate receptor-like (1);	0.190251	0.32769	U	0.005678	T	0.48943	0.1528	.	.	.	0.09310	N	1	P;B	0.52463	0.953;0.337	P;B	0.46172	0.506;0.273	T	0.46190	-0.9209	9	0.41790	T	0.15	.	4.5404	0.12054	0.0:0.2002:0.3331:0.4667	.	51;49	E9PGT2;P41439	.;FOLR3_HUMAN	E	49;51;51;49	ENSP00000390338:D49E;ENSP00000399235:D51E;ENSP00000411161:D51E;ENSP00000446279:D49E	ENSP00000325032:D49E	D	+	3	2	FOLR3	71524799	0.003000	0.15002	0.003000	0.11579	0.003000	0.03518	-0.083000	0.11286	-0.174000	0.10743	-0.320000	0.08662	GAC	FOLR3	-	NULL	ENSG00000110203		0.637	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	-	0	32	0	C	NM_000804		71847151	1	tier1	-	no_errors	ENST00000456237	ensembl	human	known	74_37	missense	10.85	115	14	SNP	0.012	A	A	71847151	C	A	71847151	3	1	104	1	0	0	0	0	1	0	0	0	6005	535	19	2	155	2	FOLR3	11	71847151	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	14525069	71847151	63159365	97	28964											
RNF169	254225	genome.wustl.edu	37	chr11	74546844	74546844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccaagagactccctgatgGccgtgtgctaagtcctctca	8	10	9	14	1	1	2	1	1	1	1	5	3	4	2	4	1	1	1	4	1	2	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr11:74546844G>A	ENST00000299563.4	+	6	1209	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	399					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTCCCTGATGGCCGTGTGCTA	0.498																																																	0													157	162	160					11																	74546844		2011	4188	6199	SO:0001583	missense	0			AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"RING-type (C3HC4) zinc fingers"	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.1196G>A	11.37:g.74546844G>A	ENSP00000299563:p.Gly399Asp		Q6N015	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.G399D	ENST00000299563.4	37	c.1196	CCDS41691.1	11	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615178	0.87359	.	.	ENSG00000166439	ENST00000299563	D	0.85411	-1.98	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92766	0.6228	10	0.87932	D	0	-37.6931	17.9695	0.89108	0.0:0.0:1.0:0.0	.	399	Q8NCN4	RN169_HUMAN	D	399	ENSP00000299563:G399D	ENSP00000299563:G399D	G	+	2	0	RNF169	74224492	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.847000	0.97988	0.655000	0.94253	GGC	RNF169	-	NULL	ENSG00000166439		0.498	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	HGNC	protein_coding	OTTHUMT00000384741.1	-	0	41	0	G	XM_495886		74546844	1	tier1	-	no_errors	ENST00000299563	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	A	A	74546844	G	A	74546844	3	1	104	1	0	0	0	0	1	0	0	0	13505	1203	42	3	1218	3	RNF169	11	74546844	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	2699693	74546844	60459672	98	28965											
CBL	867	genome.wustl.edu	37	chr11	119149355	119149355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggagctccctccccaaatTatgatgatgatgatgatgaa	13	10	10	8	0	0	6	0	6	0	0	2	7	2	7	3	1	1	1	3	1	3	1	rs397507494		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr11:119149355T>A	ENST00000264033.4	+	9	1739	c.1363T>A	c.(1363-1365)Tat>Aat	p.Y455N		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	455	Asp/Glu-rich (acidic).				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTCCCCAAATTATGATGATGA	0.473			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																															"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											98	99	99					11																	119149355		2199	4295	6494	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1363T>A	11.37:g.119149355T>A	ENSP00000264033:p.Tyr455Asn		A3KMP8	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.Y455N	ENST00000264033.4	37	c.1363	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327552	0.41197	.	.	ENSG00000110395	ENST00000264033	T	0.76839	-1.05	5.96	5.96	0.96718	.	0.060003	0.64402	D	0.000002	T	0.71384	0.3333	L	0.41236	1.265	0.51233	D	0.99991	B	0.14438	0.01	B	0.10450	0.005	T	0.65389	-0.6180	10	0.30854	T	0.27	-46.1149	16.4484	0.83959	0.0:0.0:0.0:1.0	.	455	P22681	CBL_HUMAN	N	455	ENSP00000264033:Y455N	ENSP00000264033:Y455N	Y	+	1	0	CBL	118654565	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.696000	0.61774	2.285000	0.76669	0.533000	0.62120	TAT	CBL	-	NULL	ENSG00000110395		0.473	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	HGNC	protein_coding	OTTHUMT00000388219.4	-	0	30	0	T	NM_005188		119149355	1	tier1	-	no_errors	ENST00000264033	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A	A	119149355	T	A	119149355	3	1	104	1	0	0	0	0	1	0	0	0	2707	1754	61	5	1397	5	CBL	11	119149355	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	44602511	119149355	15857161	99	28966											
OR10G7	390265	genome.wustl.edu	37	chr11	123909033	123909033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctctgaggtgcggatccGcaggatggaacagacgatgg	9	6	15	11	3	1	2	0	1	1	1	2	6	2	5	3	5	2	1	3	5	1	0	rs150421981	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr11:123909033G>A	ENST00000330487.5	-	1	684	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGCGGATCCGCAGGATGGAA	0.532													G|||	2	0.000399361	0.0015	0	5008	,	,		19788	0		0	False		,,,				2504	0																0								G	TRP/ARG	5,4397	9.9+/-24.2	0,5,2196	137	119	125		676	-0.5	1	11	dbSNP_134	125	0,8598		0,0,4299	no	missense	OR10G7	NM_001004463.1	101	0,5,6495	AA,AG,GG		0.0,0.1136,0.0385	probably-damaging	226/312	123909033	5,12995	2201	4299	6500	SO:0001583	missense	0			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"GPCR / Class A : Olfactory receptors"	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.676C>T	11.37:g.123909033G>A	ENSP00000329689:p.Arg226Trp		Q6IFE8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R226W	ENST00000330487.5	37	c.676	CCDS31705.1	11	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159348	0.21454	0.001136	0.0	ENSG00000182634	ENST00000330487	T	0.00269	8.37	3.38	-0.522	0.11928	GPCR, rhodopsin-like superfamily (1);	0.805161	0.10846	N	0.627629	T	0.00496	0.0016	M	0.89095	3.005	0.09310	N	1	D	0.71674	0.998	P	0.61722	0.893	T	0.41752	-0.9491	10	0.87932	D	0	.	6.5252	0.22297	0.1421:0.0:0.321:0.5369	.	226	Q8NGN6	O10G7_HUMAN	W	226	ENSP00000329689:R226W	ENSP00000329689:R226W	R	-	1	2	OR10G7	123414243	0.000000	0.05858	0.992000	0.48379	0.262000	0.26303	0.016000	0.13377	-0.213000	0.10094	-1.601000	0.00813	CGG	OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182634		0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	-	0	136	0	G	NM_001004463		123909033	-1	tier1	rs150421981	no_errors	ENST00000330487	ensembl	human	known	74_37	missense	66.67	30	62	SNP	0.032	A	A	123909033	G	A	123909033	3	1	104	1	0	0	0	0	1	0	0	0	10941	1086	38	1	263	1	OR10G7	11	123909033	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	4759678	123909033	11097483	100	28967											
IGSF9B	22997	genome.wustl.edu	37	chr11	133794746	133794746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccggcgatgttgctgggCtcgctgatcagatcctgcat	6	10	13	12	4	1	2	1	1	0	1	3	3	2	2	2	2	2	5	2	2	0	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr11:133794746C>A	ENST00000321016.8	-	15	2318	c.2088G>T	c.(2086-2088)gaG>gaT	p.E696D	IGSF9B_ENST00000533871.2_Missense_Mutation_p.E696D			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	696	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTTGCTGGGCTCGCTGATCA	0.572																																																	0													108	118	114					11																	133794746		2079	4210	6289	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2088G>T	11.37:g.133794746C>A	ENSP00000317980:p.Glu696Asp		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E696D	ENST00000321016.8	37	c.2088		11	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900300	0.33535	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.58060	0.36;0.36;0.36	5.02	3.13	0.36017	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.40728	N	0.001029	T	0.42517	0.1206	L	0.46157	1.445	0.35789	D	0.822276	B	0.29508	0.246	B	0.34038	0.174	T	0.45411	-0.9263	10	0.24483	T	0.36	.	7.3866	0.26886	0.0:0.7043:0.0:0.2957	.	696	Q9UPX0	TUTLB_HUMAN	D	696;538;696	ENSP00000317980:E696D;ENSP00000436552:E538D;ENSP00000436576:E696D	ENSP00000317980:E696D	E	-	3	2	IGSF9B	133299956	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	0.398000	0.20899	1.252000	0.44001	0.655000	0.94253	GAG	IGSF9B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080854		0.572	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0	43	0	C	XM_290502		133794746	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	70.83	7	17	SNP	1.000	A	A	133794746	C	A	133794746	3	1	104	1	0	0	0	0	1	0	0	0	7633	796	28	3	1981	3	IGSF9B	11	133794746	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	9885713	133794746	1211770	101	28968											
PLEKHG6	55200	genome.wustl.edu	37	chr12	6427985	6427985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaggcggacaaagccaaGgtcatccgaccccctctcat	11	5	9	16	3	2	0	2	0	1	0	4	2	3	1	4	3	1	1	4	3	3	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:6427985G>A	ENST00000396988.3	+	12	1580	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K	PLEKHG6_ENST00000449001.2_Silent_p.K418K|PLEKHG6_ENST00000536531.1_Silent_p.K450K|PLEKHG6_ENST00000011684.7_Silent_p.K450K|PLEKHG6_ENST00000304581.8_5'Flank	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	450	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ACAAAGCCAAGGTCATCCGAC	0.592																																																	0													149	131	137					12																	6427985		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"Pleckstrin homology (PH) domain containing"	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1350G>A	12.37:g.6427985G>A			Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K450	ENST00000396988.3	37	c.1350	CCDS8541.1	12																																																																																			PLEKHG6	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000008323		0.592	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	-	0	52	0	G	NM_018173		6427985	1	tier1	-	no_errors	ENST00000011684	ensembl	human	known	74_37	silent	36.07	39	22	SNP	1.000	A	A	6427985	G	A	6427985	2	1	104	1	0	0	0	0	0	0	0	1	12113	991	35	3		3	PLEKHG6	12	6427985	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		6427985	127423910	102	28969											
PTPRO	5800	genome.wustl.edu	37	chr12	15734634	15734634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaatgtgaccattactggCcattcacggaagaacctata	14	10	8	9	1	1	3	1	2	0	1	1	4	1	4	3	2	2	0	3	2	6	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:15734634C>T	ENST00000281171.4	+	23	3484	c.3154C>T	c.(3154-3156)Cca>Tca	p.P1052S	PTPRO_ENST00000445537.2_Missense_Mutation_p.P241S|PTPRO_ENST00000442921.2_Missense_Mutation_p.P241S|PTPRO_ENST00000348962.2_Missense_Mutation_p.P1024S|PTPRO_ENST00000544244.1_Missense_Mutation_p.P213S|PTPRO_ENST00000542557.1_Missense_Mutation_p.P213S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1052	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCATTACTGGCCATTCACGGA	0.438																																																	0													109	98	101					12																	15734634		2203	4300	6503	SO:0001583	missense	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9678	protein-coding gene	gene with protein product	"osteoclastic transmembrane protein-tyrosine phosphatase"	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3154C>T	12.37:g.15734634C>T	ENSP00000281171:p.Pro1052Ser		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P1052S	ENST00000281171.4	37	c.3154	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989542	0.74589	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244;ENST00000535322	T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.135420	0.33834	N	0.004510	T	0.46151	0.1378	M	0.84511	2.7	0.80722	D	1	P;P;P	0.50819	0.939;0.869;0.893	P;B;B	0.53593	0.73;0.244;0.357	T	0.52997	-0.8500	10	0.87932	D	0	.	19.1017	0.93276	0.0:1.0:0.0:0.0	.	213;1024;1052	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	S	1052;1024;241;213;241;213;31	ENSP00000281171:P1052S;ENSP00000343434:P1024S;ENSP00000404188:P241S;ENSP00000437571:P213S;ENSP00000393449:P241S;ENSP00000439234:P213S;ENSP00000446201:P31S	ENSP00000281171:P1052S	P	+	1	0	PTPRO	15625901	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.257000	0.78362	2.827000	0.97445	0.650000	0.86243	CCA	PTPRO	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000151490		0.438	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	-	0	33	0	C			15734634	1	tier1	-	no_errors	ENST00000281171	ensembl	human	known	74_37	missense	15.79	32	6	SNP	1.000	T	T	15734634	C	T	15734634	3	4	104	1	0	0	0	0	1	0	0	0	12854	739	26	3	3244	3	PTPRO	12	15734634	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	9306649	15734634	118117261	103	28970											
MLL2	8085	genome.wustl.edu	37	chr12	49431645	49431646	+	Frame_Shift_Ins	INS	-	-	C																															ccctgtgcccatccgggtatINScccggctgcccatcatgctc																										TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:49431645_49431646insC	ENST00000301067.7	-	34	9492_9493	c.9493_9494insG	c.(9493-9495)gatfs	p.D3165fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3165					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CATCCGGGTATCCCGGCTGCCC	0.619																																																	0																																										SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9494dupG	12.37:g.49431648_49431648dupC	ENSP00000301067:p.Asp3165fs		O14687	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D3165fs	ENST00000301067.7	37	c.9494_9493	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.619	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	23	0	-			49431646	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_ins	43.75	9	7	INS	0.987:1.000	C	C	49431646	-	C	49431645	7	5	104	1	0	1	1	0	0	0	0	0	9659	1435	50	0	7203	0	MLL2	12	49431645	Frame_Shift_Ins	INS	-	TCGA-LN-A49R-01A-11D-A247-09	33697011	49431645	84420250	104	28971											
NCKAP5L	57701	genome.wustl.edu	37	chr12	50186300	50186300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccgaggagctgccggctgCcctagtattggggaaggtcc	6	8	16	11	2	0	0	0	0	0	0	2	3	2	2	4	5	3	3	4	5	3	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:50186300C>G	ENST00000335999.6	-	12	3922	c.3721G>C	c.(3721-3723)Gca>Cca	p.A1241P		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1237	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CTGCCGGCTGCCCTAGTATTG	0.617																																																	0													46	52	50					12																	50186300		1896	4122	6018	SO:0001583	missense	0			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"KIAA1602"	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3721G>C	12.37:g.50186300C>G	ENSP00000337998:p.Ala1241Pro		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	NULL	p.A1241P	ENST00000335999.6	37	c.3721	CCDS41781.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.92|17.92	3.506969|3.506969	0.64410|0.64410	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.52983|.	0.64|.	5.15|5.15	3.31|3.31	0.37934|0.37934	.|.	0.145686|.	0.32287|.	N|.	0.006319|.	T|T	0.39572|0.39572	0.1083|0.1083	L|L	0.29908|0.29908	0.895|0.895	0.32875|0.32875	D|D	0.509739|0.509739	P;P;P|.	0.50617|.	0.937;0.912;0.937|.	P;P;P|.	0.52343|.	0.604;0.696;0.679|.	T|T	0.48198|0.48198	-0.9056|-0.9056	10|5	0.56958|.	D|.	0.05|.	-6.095|-6.095	9.9827|9.9827	0.41824|0.41824	0.0:0.8296:0.0:0.1704|0.0:0.8296:0.0:0.1704	.|.	1215;1237;1237|.	E2QRB5;Q9HCH0;Q9HCH0-2|.	.;NCK5L_HUMAN;.|.	P|A	1241;1215|955	ENSP00000337998:A1241P|.	ENSP00000337998:A1241P|.	A|G	-|-	1|2	0|0	NCKAP5L|NCKAP5L	48472567|48472567	0.943000|0.943000	0.32029|0.32029	1.000000|1.000000	0.80357|0.80357	0.804000|0.804000	0.45430|0.45430	1.081000|1.081000	0.30791|0.30791	0.681000|0.681000	0.31386|0.31386	0.561000|0.561000	0.74099|0.74099	GCA|GGC	NCKAP5L	-	NULL	ENSG00000167566		0.617	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP5L	HGNC	protein_coding	OTTHUMT00000346884.2		0	30	0	C	XM_035497		50186300	-1			no_errors	ENST00000335999	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	G	G	50186300	C	G	50186300	3	3	104	1	0	0	0	0	1	0	0	0	10263	739	26	5	291	5	NCKAP5L	12	50186300	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	754655	50186300	83665595	105	28972											
RACGAP1	29127	genome.wustl.edu	37	chr12	50398047	50398047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcagtcttgtcaaagctgaTatctgataaaatggaaccag	15	11	8	7	0	4	2	2	2	2	0	4	3	4	3	1	1	2	1	1	1	5	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:50398047T>C	ENST00000427314.2	-	7	689	c.466A>G	c.(466-468)Atc>Gtc	p.I156V	RACGAP1_ENST00000547905.1_Missense_Mutation_p.I156V|RACGAP1_ENST00000434422.1_Missense_Mutation_p.I156V|RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000312377.5_Missense_Mutation_p.I156V|RACGAP1_ENST00000454520.2_Missense_Mutation_p.I156V|RACGAP1_ENST00000551016.1_Missense_Mutation_p.I156V	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TCAAAGCTGATATCTGATAAA	0.368																																																	0													143	132	136					12																	50398047		2203	4300	6503	SO:0001583	missense	0				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.466A>G	12.37:g.50398047T>C	ENSP00000404190:p.Ile156Val			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.I156V	ENST00000427314.2	37	c.466	CCDS8795.1	12	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764980	0.90020	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-0.49;-0.49;-1.28;-1.28;-1.28;-1.28	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.88153	0.6360	M	0.78801	2.425	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	D	0.87593	0.2492	10	0.39692	T	0.17	-10.0223	16.7021	0.85357	0.0:0.0:0.0:1.0	.	156	Q9H0H5	RGAP1_HUMAN	V	156;156;156;156;156;156;156;82;82;98;98;156;168	ENSP00000404190:I156V;ENSP00000309871:I156V;ENSP00000413241:I156V;ENSP00000404808:I156V;ENSP00000449374:I156V;ENSP00000449370:I156V;ENSP00000448697:I156V;ENSP00000446642:I82V;ENSP00000447429:I82V;ENSP00000449963:I98V;ENSP00000450064:I98V;ENSP00000449170:I156V;ENSP00000449620:I168V	ENSP00000309871:I156V	I	-	1	0	RACGAP1	48684314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.343000	0.79666	0.533000	0.62120	ATC	RACGAP1	-	NULL	ENSG00000161800		0.368	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	-	0	28	0	T	NM_013277		50398047	-1	tier1	-	no_errors	ENST00000312377	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	C	C	50398047	T	C	50398047	3	2	104	1	0	0	0	0	1	0	0	0	13022	1406	49	4	1484	4	RACGAP1	12	50398047	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	211747	50398047	83453848	106	28973											
DAZAP2	9802	genome.wustl.edu	37	chr12	51634217	51634218	+	Frame_Shift_Ins	INS	-	-	T																															cttcctcaggctccaccctaINStaccgatgctccacctgcct																										TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:51634217_51634218insT	ENST00000412716.3	+	2	720_721	c.104_105insT	c.(103-108)tataccfs	p.T36fs	DAZAP2_ENST00000549555.1_Frame_Shift_Ins_p.T36fs|DAZAP2_ENST00000449723.3_Frame_Shift_Ins_p.T36fs|DAZAP2_ENST00000425012.2_Frame_Shift_Ins_p.T36fs|DAZAP2_ENST00000439799.2_Frame_Shift_Ins_p.T36fs|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000604900.1_Frame_Shift_Ins_p.T36fs|DAZAP2_ENST00000549732.2_Frame_Shift_Ins_p.T36fs|DAZAP2_ENST00000551313.1_5'UTR			Q15038	DAZP2_HUMAN	DAZ associated protein 2	36	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						GCTCCACCCTATACCGATGCTC	0.5																																																	0																																										SO:0001589	frameshift_variant	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.105dupT	12.37:g.51634218_51634218dupT	ENSP00000394699:p.Thr36fs		A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Frame_Shift_Ins	INS	pfam_DAZ_assoc-2	p.T36fs	ENST00000412716.3	37	c.104_105	CCDS8809.1	12																																																																																			DAZAP2	-	pfam_DAZ_assoc-2	ENSG00000183283		0.5	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	HGNC	protein_coding	OTTHUMT00000405259.2		0	61	0	-	NM_014764		51634218	1	tier1		no_errors	ENST00000549555	ensembl	human	known	74_37	frame_shift_ins	43.64	31	24	INS	1.000:1.000	T	T	51634218	-	T	51634217	7	5	104	1	0	1	1	0	0	0	0	0	4254	449	16	0	110	0	DAZAP2	12	51634217	Frame_Shift_Ins	INS	-	TCGA-LN-A49R-01A-11D-A247-09	1236170	51634217	82217678	107	28974											
CAND1	55832	genome.wustl.edu	37	chr12	67700046	67700046	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatactagaagctttctcAtctcctagtgaagaagtcaa	14	12	7	8	0	3	3	2	1	2	2	5	3	3	3	1	0	2	2	1	0	8	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:67700046A>T	ENST00000545606.1	+	10	3035	c.2598A>T	c.(2596-2598)tcA>tcT	p.S866S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	866					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AAGCTTTCTCATCTCCTAGTG	0.413																																																	0													117	115	116					12																	67700046		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2598A>T	12.37:g.67700046A>T			B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.S866	ENST00000545606.1	37	c.2598	CCDS8977.1	12																																																																																			CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	-	0	22	0	A	NM_018448		67700046	1	tier1	-	no_errors	ENST00000545606	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.147	T	T	67700046	A	T	67700046	2	4	104	1	0	0	0	0	0	0	0	1	2622	204	8	5		5	CAND1	12	67700046	Silent	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	16065829	67700046	66151849	108	28975											
CEP290	80184	genome.wustl.edu	37	chr12	88477689	88477689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctaatctgtgatgaagaaTatgaaggtcttcctcatgtt	11	16	8	6	0	4	4	1	3	3	1	5	4	5	4	1	1	0	1	1	1	5	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:88477689T>A	ENST00000552810.1	-	36	5090	c.4747A>T	c.(4747-4749)Att>Ttt	p.I1583F	CEP290_ENST00000397838.3_Missense_Mutation_p.I643F|CEP290_ENST00000547691.2_Missense_Mutation_p.I643F|CEP290_ENST00000309041.7_Missense_Mutation_p.I1585F	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1583					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGATGAAGAATATGAAGGTCT	0.308																																																	0													132	118	122					12																	88477689		1804	4070	5874	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4747A>T	12.37:g.88477689T>A	ENSP00000448012:p.Ile1583Phe		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.I1585F	ENST00000552810.1	37	c.4753	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759722	0.49468	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	5.43	0.402	0.16344	.	0.831534	0.11365	N	0.571523	D	0.84316	0.5445	N	0.22421	0.69	0.09310	N	1	B	0.31383	0.321	B	0.33799	0.17	T	0.74813	-0.3537	10	0.56958	D	0.05	.	5.4287	0.16440	0.1293:0.3549:0.0:0.5158	.	1583	O15078	CE290_HUMAN	F	643;1583;1585;643	ENSP00000446905:I643F;ENSP00000448012:I1583F;ENSP00000308021:I1585F;ENSP00000380938:I643F	ENSP00000308021:I1585F	I	-	1	0	CEP290	87001820	0.000000	0.05858	0.991000	0.47740	0.989000	0.77384	0.497000	0.22514	0.106000	0.17784	0.528000	0.53228	ATT	CEP290	-	NULL	ENSG00000198707		0.308	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	32	0	T	NM_025114		88477689	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.119	A	A	88477689	T	A	88477689	3	1	104	1	0	0	0	0	1	0	0	0	3260	1406	49	5	2768	5	CEP290	12	88477689	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	20777643	88477689	45374206	109	28976											
MED13L	23389	genome.wustl.edu	37	chr12	116408453	116408453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctggagccacctggaTggttgatgatgttgggaaca	8	11	16	6	0	0	2	0	2	0	0	0	5	0	5	2	5	2	4	2	5	1	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:116408453T>C	ENST00000281928.3	-	27	6219	c.6013A>G	c.(6013-6015)Atc>Gtc	p.I2005V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2005						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCCACCTGGATGGTTGATGAT	0.493																																																	0													199	163	175					12																	116408453		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"thyroid hormone receptor associated protein 2"	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6013A>G	12.37:g.116408453T>C	ENSP00000281928:p.Ile2005Val		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.I2005V	ENST00000281928.3	37	c.6013	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	T	10.41	1.341842	0.24339	.	.	ENSG00000123066	ENST00000281928	D	0.82433	-1.61	5.55	5.55	0.83447	.	0.050311	0.85682	D	0.000000	T	0.56761	0.2007	N	0.00746	-1.225	0.47308	D	0.999388	B	0.30326	0.276	B	0.32393	0.145	T	0.65994	-0.6033	10	0.02654	T	1	-14.9114	15.8583	0.79000	0.0:0.0:0.0:1.0	.	2005	Q71F56	MD13L_HUMAN	V	2005	ENSP00000281928:I2005V	ENSP00000281928:I2005V	I	-	1	0	MED13L	114892836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.084000	0.50143	2.326000	0.78906	0.533000	0.62120	ATC	MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.493	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0	49	0	T			116408453	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	58.14	36	50	SNP	1.000	C	C	116408453	T	C	116408453	3	2	104	1	0	0	0	0	1	0	0	0	9469	1464	51	4	639	4	MED13L	12	116408453	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	27930764	116408453	17443442	110	28977											
FBXO21	23014	genome.wustl.edu	37	chr12	117595684	117595684	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggcactcacctcttaTgcttcataatgagcccgatg	8	11	8	14	2	3	1	2	1	1	0	4	2	4	1	3	1	2	2	3	1	2	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr12:117595684T>G	ENST00000330622.5	-	10	1531	c.1532A>C	c.(1531-1533)cAt>cCt	p.H511P	FBXO21_ENST00000427718.2_Missense_Mutation_p.H504P			O94952	FBX21_HUMAN	F-box protein 21	511					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TCACCTCTTATGCTTCATAAT	0.572																																					GBM(168;452 2038 13535 17701 43680)												0													132	110	117					12																	117595684		2203	4300	6503	SO:0001583	missense	0			AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"F-boxes /  "other""	13592	protein-coding gene	gene with protein product		609095	"F-box only protein 21"			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1532A>C	12.37:g.117595684T>G	ENSP00000328187:p.His511Pro		B3KMF0|Q5BJG0|Q9H087	Missense_Mutation	SNP	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom	p.H511P	ENST00000330622.5	37	c.1532	CCDS9184.1	12	.	.	.	.	.	.	.	.	.	.	T	23.3	4.401304	0.83120	.	.	ENSG00000135108	ENST00000427718;ENST00000257563;ENST00000535590;ENST00000330622;ENST00000548840	T;T	0.73681	-0.72;-0.77	5.02	5.02	0.67125	Hemimethylated DNA-binding domain (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	D	0.89026	0.6598	M	0.92555	3.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;1.0	D;D;D;D	0.97110	1.0;0.989;0.996;0.999	D	0.91742	0.5405	10	0.87932	D	0	-1.8453	14.9146	0.70785	0.0:0.0:0.0:1.0	.	360;254;511;504	Q8IUQ5;B3KQC8;O94952;O94952-1	.;.;FBX21_HUMAN;.	P	504;420;360;511;163	ENSP00000414468:H504P;ENSP00000328187:H511P	ENSP00000257563:H420P	H	-	2	0	FBXO21	116080067	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.525000	0.81892	2.108000	0.64289	0.533000	0.62120	CAT	FBXO21	-	pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom	ENSG00000135108		0.572	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO21	HGNC	protein_coding	OTTHUMT00000404409.1	-	0	33	0	T	NM_033624		117595684	-1	tier1	-	no_errors	ENST00000330622	ensembl	human	known	74_37	missense	29.41	23	10	SNP	1.000	G	G	117595684	T	G	117595684	3	3	104	1	0	0	0	0	1	0	0	0	5755	1464	51	4	366	4	FBXO21	12	117595684	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	1187231	117595684	16256211	111	28978											
SACS	26278	genome.wustl.edu	37	chr13	23912397	23912397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttattcgtaaaggtaaaTagcaaaacacctctccaatg	15	13	5	8	1	1	0	0	0	1	0	3	0	1	0	2	1	2	3	2	1	9	7			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr13:23912397T>C	ENST00000382292.3	-	9	5891	c.5618A>G	c.(5617-5619)tAt>tGt	p.Y1873C	SACS_ENST00000402364.1_Missense_Mutation_p.Y1123C|SACS_ENST00000382298.3_Missense_Mutation_p.Y1873C			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1873					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAAAGGTAAATAGCAAAACAC	0.423																																																	0													114	113	114					13																	23912397		2203	4300	6503	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5618A>G	13.37:g.23912397T>C	ENSP00000371729:p.Tyr1873Cys		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.Y1873C	ENST00000382292.3	37	c.5618	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634656	0.87660	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87571	-2.16;-2.27;-2.16	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	M	0.63428	1.95	0.58432	D	0.999991	D	0.76494	0.999	D	0.66847	0.947	D	0.92411	0.5937	10	0.59425	D	0.04	.	16.0591	0.80826	0.0:0.0:0.0:1.0	.	1873	Q9NZJ4	SACS_HUMAN	C	1873;1123;1873	ENSP00000371729:Y1873C;ENSP00000385844:Y1123C;ENSP00000371735:Y1873C	ENSP00000371729:Y1873C	Y	-	2	0	SACS	22810397	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.698000	0.84413	2.190000	0.69967	0.482000	0.46254	TAT	SACS	-	NULL	ENSG00000151835		0.423	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0	20	0	T	NM_014363		23912397	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	missense	72.22	5	13	SNP	1.000	C	C	23912397	T	C	23912397	3	2	104	1	0	0	0	0	1	0	0	0	13849	1406	49	4	8125	4	SACS	13	23912397	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09		23912397	91257481	112	28979											
NUFIP1	26747	genome.wustl.edu	37	chr13	45523975	45523975	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctccttatcagactcTgaagggaaaagaagtcagat	13	11	8	9	0	4	4	2	1	2	3	6	5	5	5	2	1	0	0	2	1	5	2	rs77897726	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr13:45523975T>A	ENST00000379161.4	-	8	1068		c.e8-2			NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1						box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TATCAGACTCTGAAGGGAAAA	0.413																																																	0													124	109	114					13																	45523975		2203	4300	6503	SO:0001630	splice_region_variant	0			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.1022-2A>T	13.37:g.45523975T>A			Q8WVM5|Q96SG1	Splice_Site	SNP	-	e8-2	ENST00000379161.4	37	c.1022-2	CCDS9393.1	13	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248941	0.80024	.	.	ENSG00000083635	ENST00000379161	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7696	0.57412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUFIP1	44421975	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	4.813000	0.62620	2.268000	0.75426	0.519000	0.50382	.	NUFIP1	-	-	ENSG00000083635		0.413	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2		0	70	0	T	NM_012345	Intron	45523975	-1			no_errors	ENST00000379161	ensembl	human	known	74_37	splice_site	8.77	52	5	SNP	1.000	A	A	45523975	T	A	45523975	5	1	104	1	0	0	0	0	0	0	1	0	10787	1594	55	5	479	5	NUFIP1	13	45523975	Splice_Site	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	21611578	45523975	69645903	113	28980											
TDRD3	81550	genome.wustl.edu	37	chr13	61103130	61103130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtgttccaaatggagaaGtagaaatgccactgaaagga	15	9	12	5	0	0	3	0	1	0	2	1	5	1	4	2	3	1	2	2	3	5	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr13:61103130G>A	ENST00000196169.3	+	11	2280	c.1492G>A	c.(1492-1494)Gta>Ata	p.V498I	TDRD3_ENST00000377894.2_Missense_Mutation_p.V498I|TDRD3_ENST00000535286.1_Missense_Mutation_p.V591I|TDRD3_ENST00000377881.2_Missense_Mutation_p.V498I	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	498					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAATGGAGAAGTAGAAATGCC	0.363																																					Colon(36;164 906 35820 50723)												0													49	49	49					13																	61103130		2203	4300	6503	SO:0001583	missense	0			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"Tudor domain containing"	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1492G>A	13.37:g.61103130G>A	ENSP00000196169:p.Val498Ile		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.V591I	ENST00000196169.3	37	c.1771	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	6.597	0.478448	0.12521	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.84	1.78	0.24846	.	0.822854	0.11458	N	0.562031	T	0.82148	0.4974	N	0.08118	0	0.23101	N	0.998293	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.14023	0.01;0.003;0.003	T	0.69548	-0.5116	10	0.28530	T	0.3	-5.5607	3.7899	0.08716	0.5247:0.0:0.2282:0.2471	.	591;497;498	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	I	498;498;498;591	ENSP00000196169:V498I;ENSP00000367113:V498I;ENSP00000367126:V498I;ENSP00000440190:V591I	ENSP00000196169:V498I	V	+	1	0	TDRD3	60001131	0.144000	0.22641	1.000000	0.80357	0.869000	0.49853	0.313000	0.19415	0.452000	0.26830	-0.355000	0.07637	GTA	TDRD3	-	NULL	ENSG00000083544		0.363	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	-	0	27	0	G	NM_030794		61103130	1	tier1	-	no_errors	ENST00000535286	ensembl	human	known	74_37	missense	70.97	8	22	SNP	0.961	A	A	61103130	G	A	61103130	3	1	104	1	0	0	0	0	1	0	0	0	15779	1029	36	3	1813	3	TDRD3	13	61103130	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	15579155	61103130	54066748	114	28981											
POTEG	404785	genome.wustl.edu	37	chr14	19574339	19574339	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcctgacactgagaatGaacagtatcacaggtaagtc	15	10	8	8	0	1	3	1	3	0	1	3	4	2	3	1	1	1	2	1	1	5	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr14:19574339G>T	ENST00000409832.3	+	9	1448	c.1396G>T	c.(1396-1398)Gaa>Taa	p.E466*		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	466										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACTGAGAATGAACAGTATCA	0.403																																																	0													1	1	1					14																	19574339		48	179	227	SO:0001587	stop_gained	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33896	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 4"	608916	"ANKRD26-like family C, member 2"	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.1396G>T	14.37:g.19574339G>T	ENSP00000386971:p.Glu466*		A1L153|A6NMI9|Q6S5H6|Q6S8J2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E466*	ENST00000409832.3	37	c.1396	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828452	0.50845	.	.	ENSG00000222036	ENST00000409832	.	.	.	1.58	0.646	0.17789	.	.	.	.	.	.	.	.	.	.	.	0.54753	A	0.999989	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	3.7906	0.08718	0.2442:0.0:0.7558:0.0	.	.	.	.	X	466	.	ENSP00000386971:E466X	E	+	1	0	POTEG	18644339	0.006000	0.16342	0.004000	0.12327	0.019000	0.09904	0.046000	0.14035	0.230000	0.21059	0.184000	0.17185	GAA	POTEG	-	NULL	ENSG00000222036		0.403	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	HGNC	protein_coding	OTTHUMT00000408579.1	-	0	17	0	G	NM_001005356		19574339	1	tier1	-	no_errors	ENST00000409832	ensembl	human	known	74_37	nonsense	46.15	7	6	SNP	0.005	T	T	19574339	G	T	19574339	4	4	104	1	0	0	0	0	0	1	0	0	12305	1291	45	3	1430	3	POTEG	14	19574339	Nonsense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		19574339	87775201	115	28982											
DIO2	1734	genome.wustl.edu	37	chr14	80669418	80669418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggagaactcttccaccaGtttgcggaaggctggcagct	9	9	13	10	1	1	2	0	1	1	1	2	4	2	3	2	4	3	4	2	4	2	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr14:80669418G>T	ENST00000557010.1	-	4	821	c.436C>A	c.(436-438)Ctg>Atg	p.L146M	DIO2_ENST00000557125.1_Missense_Mutation_p.N20K|DIO2_ENST00000555750.1_Missense_Mutation_p.L182M|DIO2_ENST00000438257.4_Missense_Mutation_p.L146M|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	146					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCTTCCACCAGTTTGCGGAAG	0.567											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52	56	55					14																	80669418		2082	4229	6311	SO:0001583	missense	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.436C>A	14.37:g.80669418G>T	ENSP00000451419:p.Leu146Met	1200	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	NULL	p.N20K	ENST00000557010.1	37	c.60	CCDS45146.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.21|13.21	2.169652|2.169652	0.38315|0.38315	.|.	.|.	ENSG00000211448|ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750|ENST00000557125	T;T;T|.	0.52295|.	0.67;0.67;0.67|.	5.67|5.67	4.77|4.77	0.60923|0.60923	Thioredoxin-like fold (1);|.	0.139961|.	0.31167|.	N|.	0.008128|.	T|T	0.63189|0.63189	0.2490|0.2490	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	P;P;P|.	0.52316|.	0.717;0.76;0.952|.	B;B;P|.	0.45310|.	0.243;0.357;0.476|.	T|T	0.60900|0.60900	-0.7171|-0.7171	10|5	0.41790|.	T|.	0.15|.	.|.	15.0079|15.0079	0.71527|0.71527	0.0694:0.0:0.9306:0.0|0.0694:0.0:0.9306:0.0	.|.	182;146;182|.	Q92813-2;Q92813;G3V315|.	.;IOD2_HUMAN;.|.	M|K	146;146;182|20	ENSP00000405854:L146M;ENSP00000451419:L146M;ENSP00000450980:L182M|.	ENSP00000405854:L146M|.	L|N	-|-	1|3	2|2	DIO2|DIO2	79739171|79739171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.999000|1.999000	0.40806|0.40806	1.372000|1.372000	0.46190|0.46190	0.585000|0.585000	0.79938|0.79938	CTG|AAC	DIO2	-	NULL	ENSG00000211448		0.567	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	DIO2	HGNC	protein_coding	OTTHUMT00000413428.2	-	0	35	0	G			80669418	-1	tier1	-	no_errors	ENST00000557125	ensembl	human	putative	74_37	missense	54.17	11	13	SNP	1.000	T	T	80669418	G	T	80669418	3	4	104	1	0	0	0	0	1	0	0	0	4539	1020	36	3	389	3	DIO2	14	80669418	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	61095079	80669418	26680122	116	28983											
TDRD9	122402	genome.wustl.edu	37	chr14	104457550	104457550	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgaagcagtgtgttggTgtttttgccaggtaagaaca	10	11	15	5	1	0	1	0	0	0	1	0	3	0	2	1	3	4	4	1	3	3	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr14:104457550T>A	ENST00000409874.4	+	9	1217	c.1169T>A	c.(1168-1170)gTg>gAg	p.V390E	TDRD9_ENST00000339063.5_Missense_Mutation_p.V390E	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	390	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGTGTGTTGGTGTTTTTGCCA	0.403																																																	0													206	183	191					14																	104457550		2203	4300	6503	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.1169T>A	14.37:g.104457550T>A	ENSP00000387303:p.Val390Glu		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V390E	ENST00000409874.4	37	c.1169	CCDS9987.2	14	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498399	0.85069	.	.	ENSG00000156414	ENST00000409874;ENST00000339063	T;T	0.03035	4.07;4.07	5.63	5.63	0.86233	Helicase, C-terminal (1);	0.000000	0.53938	D	0.000041	T	0.31358	0.0794	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	T	0.53143	-0.8480	10	0.87932	D	0	.	15.4927	0.75624	0.0:0.0:0.0:1.0	.	390;390	Q8NDG6-2;Q8NDG6	.;TDRD9_HUMAN	E	390	ENSP00000387303:V390E;ENSP00000343545:V390E	ENSP00000343545:V390E	V	+	2	0	TDRD9	103527303	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	5.796000	0.69080	2.130000	0.65690	0.533000	0.62120	GTG	TDRD9	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000156414		0.403	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	-	0	73	0	T	NM_153046		104457550	1	tier1	-	no_errors	ENST00000409874	ensembl	human	known	74_37	missense	10.81	98	12	SNP	1.000	A	A	104457550	T	A	104457550	3	1	104	1	0	0	0	0	1	0	0	0	15783	1696	59	5	1203	5	TDRD9	14	104457550	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	23788132	104457550	2891990	117	28984											
C15orf2	23742	genome.wustl.edu	37	chr15	24924081	24924081	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggagcattgggttcAgcatgtctgccccaggcccc	6	9	14	12	0	2	0	1	0	1	0	2	1	2	1	4	4	3	3	4	4	0	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr15:24924081A>C	ENST00000329468.2	+	1	3541	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1023					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CATTGGGTTCAGCATGTCTGC	0.522																																																	0													59	56	57					15																	24924081		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3067A>C	15.37:g.24924081A>C	ENSP00000333735:p.Ser1023Arg			Missense_Mutation	SNP	NULL	p.S1023R	ENST00000329468.2	37	c.3067	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	7.296	0.612137	0.14066	.	.	ENSG00000185823	ENST00000329468	T	0.07800	3.16	1.74	-0.611	0.11601	.	2.143740	0.02121	N	0.055637	T	0.04815	0.0130	N	0.14661	0.345	0.09310	N	1	B	0.31174	0.311	B	0.21151	0.033	T	0.29792	-1.0000	10	0.35671	T	0.21	.	4.1181	0.10092	0.5646:0.0:0.4354:0.0	.	1023	Q9NZP6	CO002_HUMAN	R	1023	ENSP00000333735:S1023R	ENSP00000333735:S1023R	S	+	1	0	C15orf2	22475174	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.653000	0.05360	-0.187000	0.10516	0.260000	0.18958	AGC	NPAP1	-	NULL	ENSG00000185823		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0	35	0	A	NM_018958		24924081	1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.000	C	C	24924081	A	C	24924081	3	2	104	1	0	0	0	0	1	0	0	0	1789	188	7	4	3069	4	C15orf2	15	24924081	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09		24924081	77607311	118	28985											
TP53BP1	7158	genome.wustl.edu	37	chr15	43748729	43748729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcagagaaaggtgcaacgGaacactctccatattttctt	13	11	8	9	1	3	1	1	0	2	1	4	3	3	2	1	2	3	1	1	2	4	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr15:43748729G>T	ENST00000263801.3	-	12	2314	c.2062C>A	c.(2062-2064)Ccg>Acg	p.P688T	TP53BP1_ENST00000382039.3_Missense_Mutation_p.P693T|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P693T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P693T|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	688					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.P688S(3)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGGTGCAACGGAACACTCTCC	0.453								Other conserved DNA damage response genes																																									3	Substitution - Missense(3)	skin(2)|lung(1)											108	111	110					15																	43748729		2201	4298	6499	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"tumor protein p53-binding protein, 1"			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2062C>A	15.37:g.43748729G>T	ENSP00000263801:p.Pro688Thr		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P693T	ENST00000263801.3	37	c.2077	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	3.394	-0.123739	0.06795	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	4.94	0.882	0.19172	.	1.006500	0.07983	N	0.985927	T	0.31918	0.0812	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.002	T	0.21759	-1.0236	10	0.35671	T	0.21	0.0069	1.6473	0.02764	0.1856:0.1651:0.479:0.1703	.	693;688;693;693	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	T	688;693;693;693;693	ENSP00000263801:P688T;ENSP00000371475:P693T;ENSP00000371470:P693T;ENSP00000393497:P693T;ENSP00000388028:P693T	ENSP00000263801:P688T	P	-	1	0	TP53BP1	41536021	0.096000	0.21769	0.004000	0.12327	0.435000	0.31806	1.087000	0.30865	0.220000	0.20860	0.563000	0.77884	CCG	TP53BP1	-	NULL	ENSG00000067369		0.453	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3		0	27	0	G			43748729	-1			no_errors	ENST00000382044	ensembl	human	known	74_37	missense	5.71	33	2	SNP	0.003	T	T	43748729	G	T	43748729	3	4	104	1	0	0	0	0	1	0	0	0	16431	1174	41	3	3924	3	TP53BP1	15	43748729	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	18824648	43748729	58782663	119	28986											
AP4E1	23431	genome.wustl.edu	37	chr15	51250986	51250986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacaggagttgtgaagacTtggtggtaagacattggtgt	10	13	15	3	0	0	4	0	2	0	2	0	5	0	5	0	4	0	2	0	4	2	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr15:51250986T>C	ENST00000261842.5	+	14	1952	c.1846T>C	c.(1846-1848)Ttg>Ctg	p.L616L	AP4E1_ENST00000560508.1_Silent_p.L541L	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	616					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTGTGAAGACTTGGTGGTAAG	0.348																																																	0													140	150	146					15																	51250986		2196	4294	6490	SO:0001819	synonymous_variant	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1846T>C	15.37:g.51250986T>C			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.L616	ENST00000261842.5	37	c.1846	CCDS32240.1	15																																																																																			AP4E1	-	superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.348	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	-	0	30	0	T			51250986	1	tier1	-	no_errors	ENST00000261842	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.421	C	C	51250986	T	C	51250986	2	2	104	1	0	0	0	0	0	0	0	1	752	1606	56	4		4	AP4E1	15	51250986	Silent	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	7502257	51250986	51280406	120	28987											
IGDCC4	57722	genome.wustl.edu	37	chr15	65686860	65686860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaagggttggggctggacaGggagagctggggtgctgcac	7	6	21	7	1	0	1	0	0	0	1	0	4	0	2	0	7	3	5	0	7	1	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr15:65686860G>T	ENST00000352385.2	-	9	1812	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	535	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGCTGGACAGGGAGAGCTGG	0.607																																																	0													63	59	60					15																	65686860		2201	4299	6500	SO:0001583	missense	0				CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	13770	protein-coding gene	gene with protein product	"likely ortholog of mouse neighbor of Punc E11"						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1603C>A	15.37:g.65686860G>T	ENSP00000319623:p.Leu535Met		Q9HCE4	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L535M	ENST00000352385.2	37	c.1603	CCDS10206.1	15	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679730	0.68042	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.58652	0.32	5.58	3.32	0.38043	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.075404	0.56097	D	0.000040	T	0.78110	0.4232	M	0.88704	2.975	0.38500	D	0.948201	D	0.89917	1.0	D	0.81914	0.995	D	0.84417	0.0569	10	0.72032	D	0.01	-5.6283	13.609	0.62065	0.1499:0.0:0.8501:0.0	.	535	Q8TDY8	IGDC4_HUMAN	M	535;264	ENSP00000319623:L535M	ENSP00000319623:L535M	L	-	1	2	IGDCC4	63473913	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.351000	0.44071	1.329000	0.45376	0.650000	0.86243	CTG	IGDCC4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000103742		0.607	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	IGDCC4	HGNC	protein_coding	OTTHUMT00000256825.2	-	0	25	0	G	NM_020962		65686860	-1	tier1	-	no_errors	ENST00000352385	ensembl	human	novel	74_37	missense	11.76	30	4	SNP	1.000	T	T	65686860	G	T	65686860	3	4	104	1	0	0	0	0	1	0	0	0	7596	991	35	3	2197	3	IGDCC4	15	65686860	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	14435874	65686860	36844532	121	28988											
MAP2K5	5607	genome.wustl.edu	37	chr15	67923233	67923233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttcccatagagcatatCatgtcccgagtgggaaaata	12	12	8	9	1	2	1	1	0	1	1	4	3	4	2	2	1	1	1	2	1	5	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr15:67923233C>G	ENST00000178640.5	+	9	1180	c.553C>G	c.(553-555)Cat>Gat	p.H185D	MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Missense_Mutation_p.H149D|MAP2K5_ENST00000395476.2_Missense_Mutation_p.H185D	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TAGAGCATATCATGTCCCGAG	0.343																																																	0													103	104	104					15																	67923233		2200	4298	6498	SO:0001583	missense	0			U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"Mitogen-activated protein kinase cascade / Kinase kinases"	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.553C>G	15.37:g.67923233C>G	ENSP00000178640:p.His185Asp		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H185D	ENST00000178640.5	37	c.553	CCDS10224.1	15	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095674	0.76870	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000439036	T;T;T;T	0.64803	-0.12;-0.12;-0.12;1.21	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	L	0.35723	1.085	0.80722	D	1	P;D;P	0.89917	0.937;1.0;0.949	P;D;P	0.97110	0.66;1.0;0.77	T	0.76116	-0.3077	10	0.87932	D	0	-18.0886	18.9153	0.92503	0.0:1.0:0.0:0.0	.	185;185;185	Q13163-2;Q13163;B2RD76	.;MP2K5_HUMAN;.	D	185;185;185;149;118	ENSP00000378859:H185D;ENSP00000178640:H185D;ENSP00000346493:H149D;ENSP00000390196:H118D	ENSP00000178640:H185D	H	+	1	0	MAP2K5	65710287	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.497000	0.66924	2.461000	0.83175	0.655000	0.94253	CAT	MAP2K5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000137764		0.343	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K5	HGNC	protein_coding	OTTHUMT00000257041.1	-	0	28	0	C	NM_145162		67923233	1	tier1	-	no_errors	ENST00000178640	ensembl	human	known	74_37	missense	51.28	19	20	SNP	1.000	G	G	67923233	C	G	67923233	3	3	104	1	0	0	0	0	1	0	0	0	9278	826	29	5	587	5	MAP2K5	15	67923233	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	2236373	67923233	34608159	122	28989											
TRAF7	84231	genome.wustl.edu	37	chr16	2225837	2225837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccacgattactcatagatCtgggacatccgaacccttga	11	9	8	13	2	2	2	1	1	1	1	3	5	3	3	3	1	2	0	3	1	3	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:2225837C>T	ENST00000326181.6	+	18	1761	c.1629C>T	c.(1627-1629)atC>atT	p.I543I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	543					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACTCATAGATCTGGGACATCC	0.612																																																	0													109	98	102					16																	2225837		2196	4300	6496	SO:0001819	synonymous_variant	0			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"RING-type (C3HC4) zinc fingers", "WD repeat domain containing"	20456	protein-coding gene	gene with protein product		606692	"ring finger and WD repeat domain 1", "TNF receptor-associated factor 7"	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1629C>T	16.37:g.2225837C>T			Q9H073	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I543	ENST00000326181.6	37	c.1629	CCDS10461.1	16																																																																																			TRAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000131653		0.612	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	-	0	20	0	C	NM_032271		2225837	1	tier1	-	no_errors	ENST00000326181	ensembl	human	known	74_37	silent	38.71	19	12	SNP	1.000	T	T	2225837	C	T	2225837	2	4	104	1	0	0	0	0	0	0	0	1	16494	903	32	3		3	TRAF7	16	2225837	Silent	SNP	C	TCGA-LN-A49R-01A-11D-A247-09		2225837	88128916	123	28990											
GP2	2813	genome.wustl.edu	37	chr16	20327307	20327307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgggccccaaatctagaAcccgggctaggtcgatggcc	9	7	13	12	2	1	2	0	1	1	1	2	3	1	2	4	4	1	1	4	4	4	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:20327307A>G	ENST00000381362.4	-	10	1557	c.1481T>C	c.(1480-1482)gTt>gCt	p.V494A	GP2_ENST00000381360.5_Missense_Mutation_p.V347A|GP2_ENST00000341642.5_Missense_Mutation_p.V344A|GP2_ENST00000302555.5_Missense_Mutation_p.V491A|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	494					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAAATCTAGAACCCGGGCTAG	0.493																																																	0													110	102	105					16																	20327307		2203	4300	6503	SO:0001583	missense	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1481T>C	16.37:g.20327307A>G	ENSP00000370767:p.Val494Ala		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.V494A	ENST00000381362.4	37	c.1481	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	A	16.39	3.111021	0.56398	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.91124	-2.79;-2.78;-1.56;-1.58	5.37	4.25	0.50352	.	.	.	.	.	D	0.93562	0.7945	M	0.72118	2.19	0.28321	N	0.922214	D;D;D;D	0.89917	0.984;0.972;1.0;0.972	P;P;D;P	0.83275	0.885;0.906;0.996;0.77	D	0.86321	0.1692	9	0.30854	T	0.27	-2.2005	8.4614	0.32929	0.8268:0.0:0.0:0.1732	.	344;472;491;494	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	491;494;347;344;472	ENSP00000304044:V491A;ENSP00000370767:V494A;ENSP00000370765:V347A;ENSP00000343861:V344A	ENSP00000304044:V491A	V	-	2	0	GP2	20234808	0.752000	0.28338	0.132000	0.22025	0.471000	0.32888	2.674000	0.46867	0.821000	0.34540	0.533000	0.62120	GTT	GP2	-	NULL	ENSG00000169347		0.493	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	-	0	46	0	A	NM_016295		20327307	-1	tier1	-	no_errors	ENST00000381362	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.711	G	G	20327307	A	G	20327307	3	3	104	1	0	0	0	0	1	0	0	0	6608	43	2	4	144	4	GP2	16	20327307	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	18101470	20327307	70027446	124	28991											
GGA2	23062	genome.wustl.edu	37	chr16	23497446	23497446	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccgcactgaccctctTggacaccttctccgattttt	6	13	5	17	2	2	1	0	1	2	0	4	3	3	2	5	1	0	1	5	1	0	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:23497446T>C	ENST00000309859.4	-	8	770	c.688A>G	c.(688-690)Aag>Gag	p.K230E	GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	230	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		CTGACCCTCTTGGACACCTTC	0.572																																																	0													145	104	118					16																	23497446		2197	4300	6497	SO:0001583	missense	0			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.688A>G	16.37:g.23497446T>C	ENSP00000311962:p.Lys230Glu		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.K230E	ENST00000309859.4	37	c.688	CCDS10611.1	16	.	.	.	.	.	.	.	.	.	.	T	21.9	4.217531	0.79352	.	.	ENSG00000103365	ENST00000309859	T	0.43688	0.94	6.07	3.75	0.43078	GAT (2);	0.288040	0.39274	N	0.001419	T	0.44393	0.1291	L	0.49778	1.585	0.80722	D	1	B	0.34241	0.444	B	0.42959	0.403	T	0.32134	-0.9918	10	0.51188	T	0.08	-7.7307	11.4261	0.50012	0.0:0.0:0.3136:0.6864	.	230	Q9UJY4	GGA2_HUMAN	E	230	ENSP00000311962:K230E	ENSP00000311962:K230E	K	-	1	0	GGA2	23404947	1.000000	0.71417	0.052000	0.19188	0.961000	0.63080	2.985000	0.49362	0.492000	0.27815	0.533000	0.62120	AAG	GGA2	-	pfam_GAT,pfscan_GAT	ENSG00000103365		0.572	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	-	0	43	0	T			23497446	-1	tier1	-	no_errors	ENST00000309859	ensembl	human	known	74_37	missense	36.36	28	16	SNP	0.761	C	C	23497446	T	C	23497446	3	2	104	1	0	0	0	0	1	0	0	0	6379	1821	63	4	1193	4	GGA2	16	23497446	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	3170139	23497446	66857307	125	28992											
TNRC6A	27327	genome.wustl.edu	37	chr16	24802699	24802699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcatcaggatgggatgaAtcttctaaacctactccttc	12	13	6	10	0	4	1	2	1	2	0	6	3	5	3	2	2	2	0	2	2	5	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:24802699A>T	ENST00000395799.3	+	6	2865	c.2736A>T	c.(2734-2736)gaA>gaT	p.E912D	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E912D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	912	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GATGGGATGAATCTTCTAAAC	0.458																																																	0													74	73	73					16																	24802699		2197	4300	6497	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2736A>T	16.37:g.24802699A>T	ENSP00000379144:p.Glu912Asp		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.E912D	ENST00000395799.3	37	c.2736	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893054	0.33442	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12672	2.66;2.67	5.62	2.0	0.26442	.	0.165805	0.52532	D	0.000062	T	0.06280	0.0162	N	0.12961	0.28	0.80722	D	1	B;B;B	0.12013	0.001;0.004;0.005	B;B;B	0.14578	0.002;0.011;0.003	T	0.35276	-0.9795	10	0.17369	T	0.5	-11.4414	5.6582	0.17654	0.6336:0.1353:0.2311:0.0	.	659;912;912	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	D	912	ENSP00000326900:E912D;ENSP00000379144:E912D	ENSP00000326900:E912D	E	+	3	2	TNRC6A	24710200	0.798000	0.28890	0.999000	0.59377	0.968000	0.65278	0.251000	0.18257	0.422000	0.26005	0.533000	0.62120	GAA	TNRC6A	-	NULL	ENSG00000090905		0.458	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1		0	16	0	A	NM_020847		24802699	1			no_errors	ENST00000395799	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.995	T	T	24802699	A	T	24802699	3	4	104	1	0	0	0	0	1	0	0	0	16387	98	4	5	2758	5	TNRC6A	16	24802699	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	1305253	24802699	65552054	126	28993											
TNRC6A	27327	genome.wustl.edu	37	chr16	24815534	24815534	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaatggagatagataaacAtagcctaaatattggtgatt	17	11	9	4	1	0	3	0	1	0	2	0	5	0	3	1	2	2	0	1	2	8	7	rs146427035	byFrequency	TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:24815534A>T	ENST00000395799.3	+	12	3860	c.3731A>T	c.(3730-3732)cAt>cTt	p.H1244L	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.H1244L	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1244	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATAGATAAACATAGCCTAAAT	0.403																																																	0													91	85	87					16																	24815534		2197	4300	6497	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"Trinucleotide (CAG) repeat containing"	11969	protein-coding gene	gene with protein product		610739	"trinucleotide repeat containing 6"	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3731A>T	16.37:g.24815534A>T	ENSP00000379144:p.His1244Leu		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.H1244L	ENST00000395799.3	37	c.3731	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620490	0.66787	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.12569	2.67;2.69	6.08	6.08	0.98989	UBA-like (1);	0.151017	0.52532	D	0.000064	T	0.12518	0.0304	N	0.19112	0.55	0.80722	D	1	P;P	0.44734	0.557;0.842	P;P	0.45343	0.447;0.477	T	0.08680	-1.0710	10	0.38643	T	0.18	-2.8395	12.4913	0.55901	0.8608:0.1392:0.0:0.0	.	1244;1244	Q8NDV7-6;Q8NDV7	.;TNR6A_HUMAN	L	1244	ENSP00000326900:H1244L;ENSP00000379144:H1244L	ENSP00000326900:H1244L	H	+	2	0	TNRC6A	24723035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.926000	0.48892	2.333000	0.79357	0.482000	0.46254	CAT	TNRC6A	-	superfamily_UBA-like	ENSG00000090905		0.403	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	-	0	21	0	A	NM_020847		24815534	1	tier1	-	no_errors	ENST00000395799	ensembl	human	known	74_37	missense	38.71	19	12	SNP	1.000	T	T	24815534	A	T	24815534	3	4	104	1	0	0	0	0	1	0	0	0	16387	217	8	5	3777	5	TNRC6A	16	24815534	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	12835	24815534	65539219	127	28994											
ITGAX	3687	genome.wustl.edu	37	chr16	31373951	31373951	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttactccaccgagctggcCctctggaaaggggtgcagag	8	7	15	11	1	1	1	0	0	1	1	2	3	2	2	3	5	3	3	3	5	2	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:31373951C>G	ENST00000268296.4	+	12	1357	c.1236C>G	c.(1234-1236)gcC>gcG	p.A412A	ITGAX_ENST00000562522.1_Silent_p.A412A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	412					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCGAGCTGGCCCTCTGGAAAG	0.672																																																	0													18	19	18					16																	31373951		2197	4297	6494	SO:0001819	synonymous_variant	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1236C>G	16.37:g.31373951C>G			Q8IVA6	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.A412	ENST00000268296.4	37	c.1236	CCDS10711.1	16																																																																																			ITGAX	-	smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000140678		0.672	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	-	0	33	0	C	NM_000887		31373951	1	tier1	-	no_errors	ENST00000268296	ensembl	human	known	74_37	silent	26.32	13	5	SNP	0.001	G	G	31373951	C	G	31373951	2	3	104	1	0	0	0	0	0	0	0	1	7916	610	22	5		5	ITGAX	16	31373951	Silent	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	6558417	31373951	58980802	128	28995											
SLC38A7	55238	genome.wustl.edu	37	chr16	58701331	58701331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcgttggctgtggtctgGccgaagatgaaggctcccag	7	9	16	9	2	1	2	0	1	1	1	2	3	2	2	2	5	0	3	2	5	2	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:58701331G>A	ENST00000570101.1	-	11	2230	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564100.1_Missense_Mutation_p.A315V|SLC38A7_ENST00000564010.1_Silent_p.G360G|SLC38A7_ENST00000219320.4_Silent_p.G449G			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	449					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTGGTCTGGCCGAAGATGA	0.562																																																	0													160	135	144					16																	58701331		2198	4300	6498	SO:0001819	synonymous_variant	0			BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"Solute carriers"	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1347C>T	16.37:g.58701331G>A			Q53GJ9|Q9H9I5	Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.A315V	ENST00000570101.1	37	c.944	CCDS10800.1	16																																																																																			SLC38A7	-	NULL	ENSG00000103042		0.562	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	HGNC	protein_coding	OTTHUMT00000422206.2	-	0	26	0	G	NM_018231		58701331	-1	tier1	-	no_errors	ENST00000564100	ensembl	human	putative	74_37	missense	21.43	22	6	SNP	1.000	A	A	58701331	G	A	58701331	2	1	104	1	0	0	0	0	0	0	0	1	14654	1190	42	3		3	SLC38A7	16	58701331	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	27327380	58701331	31653422	129	28996											
ESRP2	80004	genome.wustl.edu	37	chr16	68266687	68266688	+	Frame_Shift_Ins	INS	-	-	T																															gccccgtctcgtatttctgcINStttatcacctcgggcttcga																										TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:68266687_68266688insT	ENST00000565858.1	-	6	772_773	c.686_687insA	c.(685-687)aagfs	p.K229fs	ESRP2_ENST00000473183.2_Frame_Shift_Ins_p.K229fs	NM_024939.2	NP_079215.2	Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	229					mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGTATTTCTGCTTTATCACCTC	0.569																																																	0																																										SO:0001589	frameshift_variant	0			AK025571	CCDS10863.1	16q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000103067	ENSG00000103067		"RNA binding motif (RRM) containing"	26152	protein-coding gene	gene with protein product		612960	"RNA binding motif protein 35B"	RBM35B		12477932	Standard	NM_024939		Approved	FLJ21918	uc002evq.1	Q9H6T0	OTTHUMG00000137557	ENST00000565858.1:c.687dupA	16.37:g.68266690_68266690dupT	ENSP00000454554:p.Lys229fs		Q8N6H8|Q8WZ15|Q9H6I4	Frame_Shift_Ins	INS	superfamily_RNaseH-like_dom,smart_RRM_dom	p.Q230fs	ENST00000565858.1	37	c.687_686		16																																																																																			ESRP2	-	NULL	ENSG00000103067		0.569	ESRP2-004	KNOWN	basic|appris_candidate_longest	protein_coding	ESRP2	HGNC	protein_coding	OTTHUMT00000433083.1		0	18	0	-	NM_024939		68266688	-1	tier1		no_errors	ENST00000565858	ensembl	human	known	74_37	frame_shift_ins	56.00	11	14	INS	1.000:1.000	T	T	68266688	-	T	68266687	7	5	104	1	0	1	1	0	0	0	0	0	5275	796	28	0	1506	0	ESRP2	16	68266687	Frame_Shift_Ins	INS	-	TCGA-LN-A49R-01A-11D-A247-09	9565356	68266687	22088066	130	28997											
CLEC18B	497190	genome.wustl.edu	37	chr16	74452168	74452168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggctgccctggcttgaGccagttgggccaggctgtca	6	8	16	11	0	1	2	1	1	0	1	1	2	1	2	3	4	2	4	3	4	0	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr16:74452168G>A	ENST00000339953.5	-	3	366	c.245C>T	c.(244-246)gCt>gTt	p.A82V		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	82	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGGCTTGAGCCAGTTGGGC	0.647																																																	0													9	10	10					16																	74452168		1895	3990	5885	SO:0001583	missense	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"C-type lectin domain containing"	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.245C>T	16.37:g.74452168G>A	ENSP00000341051:p.Ala82Val		B4DF90	Missense_Mutation	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.A82V	ENST00000339953.5	37	c.245	CCDS32484.1	16	.	.	.	.	.	.	.	.	.	.	g	22.2	4.251676	0.80135	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492	T	0.33865	1.39	3.57	3.57	0.40892	CAP domain (3);	0.130767	0.49305	D	0.000141	T	0.63319	0.2501	H	0.95850	3.73	0.53005	D	0.999966	P;P	0.47191	0.747;0.891	P;P	0.54431	0.674;0.752	T	0.73917	-0.3831	10	0.87932	D	0	.	10.55	0.45083	0.0:0.0:1.0:0.0	.	82;82	C9JSV1;Q6UXF7	.;CL18B_HUMAN	V	82	ENSP00000341051:A82V	ENSP00000268492:A82V	A	-	2	0	CLEC18B	73009669	1.000000	0.71417	0.592000	0.28758	0.857000	0.48899	6.946000	0.75953	1.821000	0.53095	0.531000	0.56144	GCT	CLEC18B	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000140839		0.647	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	HGNC	protein_coding	OTTHUMT00000434697.1	-	0	40	0	G	NM_001011880		74452168	-1	tier1	-	no_errors	ENST00000339953	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.875	A	A	74452168	G	A	74452168	3	1	104	1	0	0	0	0	1	0	0	0	3510	971	34	3	1166	3	CLEC18B	16	74452168	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	6185481	74452168	15902585	131	28998											
TP53	7157	genome.wustl.edu	37	chr17	7578370	7578370	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccagccccagctgctcaCcatcgctatctgagcagcgc	7	8	8	18	2	3	1	1	1	2	0	5	1	3	1	4	0	5	4	4	0	1	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:7578370C>A	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCTGCTCACCATCGCTATC	0.632		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)											48	46	47					17																	7578370		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.559+1G>T	17.37:g.7578370C>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e4+1	ENST00000269305.4	37	c.559+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713974	0.30413	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	27	0	C	NM_000546	Intron	7578370	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	93.02	3	40	SNP	1.000	A	A	7578370	C	A	7578370	5	1	104	1	0	0	0	0	0	0	1	0	16429	521	18	3	738	3	TP53	17	7578370	Splice_Site	SNP	C	TCGA-LN-A49R-01A-11D-A247-09		7578370	73616840	132	28999											
TBC1D26	353149	genome.wustl.edu	37	chr17	15641610	15641610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagctgtctcaaagagtatAcaaagtcattcccctggcgg	11	10	10	10	1	2	1	2	0	1	1	4	1	3	1	2	2	2	3	2	2	5	4	rs202131240		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:15641610A>G	ENST00000437605.2	+	7	546	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	AC005324.6_ENST00000580194.1_RNA|AC005324.6_ENST00000434017.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.Y99C|AC005324.6_ENST00000433873.1_RNA|ZNF286A_ENST00000413242.2_3'UTR	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	99							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAGAGTATACAAAGTCATT	0.527																																																	0													94	90	91					17																	15641610		1953	4139	6092	SO:0001583	missense	0				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.296A>G	17.37:g.15641610A>G	ENSP00000410111:p.Tyr99Cys		A8K929|Q4G172	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Y99C	ENST00000437605.2	37	c.296	CCDS42265.1	17	.	.	.	.	.	.	.	.	.	.	a	6.884	0.532498	0.13127	.	.	ENSG00000214946	ENST00000437605	T	0.40756	1.02	1.44	-0.0271	0.13927	Rab-GAP/TBC domain (2);	0.436109	0.22940	U	0.053784	T	0.48943	0.1528	L	0.58583	1.82	0.19945	N	0.999948	D;D	0.76494	0.999;0.981	D;D	0.67231	0.95;0.914	T	0.36601	-0.9741	10	0.52906	T	0.07	.	3.1782	0.06576	0.6204:0.0:0.0:0.3796	.	99;99	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	C	99	ENSP00000410111:Y99C	ENSP00000410111:Y99C	Y	+	2	0	TBC1D26	15582335	0.952000	0.32445	0.008000	0.14137	0.029000	0.11900	1.676000	0.37565	-0.258000	0.09446	0.338000	0.21704	TAC	TBC1D26	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000214946		0.527	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding			0	50	0	A	NM_178571		15641610	1			no_errors	ENST00000437605	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.413	G	G	15641610	A	G	15641610	3	3	104	1	0	0	0	0	1	0	0	0	15663	391	14	4	314	4	TBC1D26	17	15641610	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	8063240	15641610	65553600	133	29000											
MYO18A	399687	genome.wustl.edu	37	chr17	27448072	27448072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggtactgcaccagaTgctggcagctggtggtcttg	6	10	15	10	0	1	1	0	0	1	1	1	1	1	1	2	5	4	5	2	5	1	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:27448072T>C	ENST00000527372.1	-	6	1709	c.1529A>G	c.(1528-1530)cAt>cGt	p.H510R	MYO18A_ENST00000533112.1_Missense_Mutation_p.H510R|MYO18A_ENST00000354329.4_Missense_Mutation_p.H510R|MYO18A_ENST00000531253.1_Missense_Mutation_p.H510R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	510	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGCACCAGATGCTGGCAGCT	0.592																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0													47	49	48					17																	27448072		2084	4217	6301	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"Myosins / Myosin superfamily : Class XVIII"	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1529A>G	17.37:g.27448072T>C	ENSP00000437073:p.His510Arg		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.H510R	ENST00000527372.1	37	c.1529	CCDS45642.1	17	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616933	0.87359	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.92	5.92	0.95590	Myosin head, motor domain (3);	0.046663	0.85682	D	0.000000	T	0.74473	0.3721	L	0.33710	1.025	0.58432	D	0.99999	P;D;D;D;D	0.89917	0.679;1.0;0.98;0.98;0.993	B;D;P;P;D	0.83275	0.43;0.996;0.773;0.773;0.931	T	0.68383	-0.5423	10	0.07325	T	0.83	.	16.0368	0.80635	0.0:0.0:0.0:1.0	.	179;122;510;510;510	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	R	510;510;510;510;510;122	ENSP00000346291:H510R;ENSP00000435932:H510R;ENSP00000434228:H510R;ENSP00000437073:H510R	ENSP00000346291:H510R	H	-	2	0	MYO18A	24472198	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	5.970000	0.70431	2.270000	0.75569	0.459000	0.35465	CAT	MYO18A	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000196535		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	-	0	74	0	T	NM_078471		27448072	-1	tier1	-	no_errors	ENST00000354329	ensembl	human	known	74_37	missense	38.89	33	21	SNP	1.000	C	C	27448072	T	C	27448072	3	2	104	1	0	0	0	0	1	0	0	0	10103	1464	51	4	4783	4	MYO18A	17	27448072	Missense_Mutation	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	11806462	27448072	53747138	134	29001											
TMIGD1	388364	genome.wustl.edu	37	chr17	28656289	28656289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtaacattcagcaccaccGaaacggacacggactgatcc	15	5	8	13	3	1	1	1	1	0	0	2	4	2	3	3	2	3	2	3	2	3	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:28656289G>A	ENST00000328886.4	-	3	413	c.341C>T	c.(340-342)tCg>tTg	p.S114L	TMIGD1_ENST00000538566.2_Missense_Mutation_p.S114L	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	114	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CAGCACCACCGAAACGGACAC	0.463																																																	0													118	99	105					17																	28656289		2203	4300	6503	SO:0001583	missense	0			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.341C>T	17.37:g.28656289G>A	ENSP00000332404:p.Ser114Leu		A8K2K1|Q6ZMC6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S114L	ENST00000328886.4	37	c.341	CCDS32605.1	17	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293685	0.60086	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.19938	2.11;2.11	5.48	5.48	0.80851	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.130118	0.53938	D	0.000051	T	0.44644	0.1303	M	0.61703	1.905	0.42771	D	0.993831	D;D	0.76494	0.997;0.999	P;D	0.66351	0.766;0.943	T	0.34750	-0.9816	10	0.66056	D	0.02	-5.7294	18.3372	0.90293	0.0:0.0:1.0:0.0	.	114;114	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	L	114	ENSP00000332404:S114L;ENSP00000446118:S114L	ENSP00000332404:S114L	S	-	2	0	TMIGD1	25680415	1.000000	0.71417	0.621000	0.29145	0.098000	0.18820	6.398000	0.73244	2.582000	0.87167	0.579000	0.79373	TCG	TMIGD1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000182271		0.463	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIGD1	HGNC	protein_coding	OTTHUMT00000447955.1	-	0	45	0	G	NM_206832		28656289	-1	tier1	-	no_errors	ENST00000328886	ensembl	human	known	74_37	missense	25.64	29	10	SNP	0.916	A	A	28656289	G	A	28656289	3	1	104	1	0	0	0	0	1	0	0	0	16277	1059	37	1	467	1	TMIGD1	17	28656289	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	1208217	28656289	52538921	135	29002											
NF1	4763	genome.wustl.edu	37	chr17	29554303	29554303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcatcccactgcaggaaaCactgaggtatgcccttagca	12	7	10	12	0	0	1	0	1	0	0	1	3	1	2	2	2	5	4	2	2	3	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:29554303C>T	ENST00000358273.4	+	19	2702	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	NF1_ENST00000356175.3_Silent_p.N773N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	773					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAGGAAACACTGAGGTAT	0.478			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)											60	59	60					17																	29554303		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2319C>T	17.37:g.29554303C>T			O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.N773	ENST00000358273.4	37	c.2319	CCDS42292.1	17																																																																																			NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.478	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	-	0	29	0	C	NM_000267		29554303	1	tier1	-	no_errors	ENST00000358273	ensembl	human	known	74_37	silent	57.14	9	12	SNP	1.000	T	T	29554303	C	T	29554303	2	4	104	1	0	0	0	0	0	0	0	1	10395	477	17	3		3	NF1	17	29554303	Silent	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	898014	29554303	51640907	136	29003											
LRRC37B	114659	genome.wustl.edu	37	chr17	30374917	30374917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaacttgtcaggctttGggggtgagcagctagacacc	9	9	13	10	0	2	2	2	1	0	1	2	2	2	2	1	3	3	4	1	3	2	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:30374917G>T	ENST00000341671.7	+	9	2385	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	LRRC37B_ENST00000584368.1_Missense_Mutation_p.G755W|LRRC37B_ENST00000327564.7_Missense_Mutation_p.G821W|LRRC37B_ENST00000394713.3_Missense_Mutation_p.G743W|LRRC37B_ENST00000543378.2_Missense_Mutation_p.G712W	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	794						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GTCAGGCTTTGGGGGTGAGCA	0.498																																																	0													192	193	193					17																	30374917		2203	4300	6503	SO:0001583	missense	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2380G>T	17.37:g.30374917G>T	ENSP00000340519:p.Gly794Trp		Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G794W	ENST00000341671.7	37	c.2380	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	1.596	-0.527870	0.04112	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.66099	-0.13;-0.19;0.93;-0.18	1.75	-3.16	0.05217	.	.	.	.	.	T	0.65811	0.2727	L	0.60455	1.87	0.09310	N	1	D;P	0.69078	0.997;0.938	D;B	0.64144	0.922;0.096	T	0.57100	-0.7869	9	0.72032	D	0.01	.	3.1104	0.06356	0.3415:0.257:0.4015:0.0	.	743;794	Q17RC9;Q96QE4	.;LR37B_HUMAN	W	712;821;743;794	ENSP00000443345:G712W;ENSP00000332536:G821W;ENSP00000378202:G743W;ENSP00000340519:G794W	ENSP00000332536:G821W	G	+	1	0	LRRC37B	27399030	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.608000	0.05641	-0.781000	0.04548	-0.423000	0.05987	GGG	LRRC37B	-	NULL	ENSG00000185158		0.498	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	-	0	100	0	G	NM_052888		30374917	1	tier1	-	no_errors	ENST00000341671	ensembl	human	known	74_37	missense	39.00	59	39	SNP	0.000	T	T	30374917	G	T	30374917	3	4	104	1	0	0	0	0	1	0	0	0	9029	1348	47	3	2414	3	LRRC37B	17	30374917	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	820614	30374917	50820293	137	29004											
RUNDC1	146923	genome.wustl.edu	37	chr17	41143344	41143344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtactaccatgctaagaacGgccgtgcttatgtggaatcc	11	10	10	10	2	0	1	0	0	0	1	1	2	1	2	3	2	5	3	3	2	6	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:41143344G>T	ENST00000361677.1	+	5	1465	c.1453G>T	c.(1453-1455)Ggc>Tgc	p.G485C		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	485	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCTAAGAACGGCCGTGCTTA	0.567																																																	0													72	72	72					17																	41143344		2203	4300	6503	SO:0001583	missense	0			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1453G>T	17.37:g.41143344G>T	ENSP00000354622:p.Gly485Cys		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.G485C	ENST00000361677.1	37	c.1453	CCDS11448.1	17	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729931	0.89390	.	.	ENSG00000198863	ENST00000361677	T	0.32515	1.45	5.02	5.02	0.67125	RUN (2);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67043	-0.5770	10	0.87932	D	0	-28.4733	18.5295	0.90986	0.0:0.0:1.0:0.0	.	485	Q96C34	RUND1_HUMAN	C	485	ENSP00000354622:G485C	ENSP00000354622:G485C	G	+	1	0	RUNDC1	38396870	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.652000	0.98499	2.598000	0.87819	0.655000	0.94253	GGC	RUNDC1	-	pfam_Run,pfscan_Run	ENSG00000198863		0.567	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1		0	33	0	G	NM_173079		41143344	1			no_errors	ENST00000361677	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	41143344	G	T	41143344	3	4	104	1	0	0	0	0	1	0	0	0	13787	1116	39	2	1471	2	RUNDC1	17	41143344	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	10768427	41143344	40051866	138	29005											
ITGA2B	3674	genome.wustl.edu	37	chr17	42466775	42466775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctggaggggcagcacaagGtcccaagagcagcagcaccc	11	2	15	13	0	0	1	0	0	0	1	1	2	1	2	2	5	4	6	2	5	2	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:42466775G>T	ENST00000262407.5	-	1	98	c.67C>A	c.(67-69)Cct>Act	p.P23T	ITGA2B_ENST00000353281.4_Missense_Mutation_p.P23T	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	23				P -> A (in Ref. 2; AAA35926). {ECO:0000305}.	axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	GCAGCACAAGGTCCCAAGAGC	0.582																																																	0													82	82	82					17																	42466775		2203	4300	6503	SO:0001583	missense	0				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"CD molecules", "Integrins"	6138	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 93"	607759	"integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.67C>A	17.37:g.42466775G>T	ENSP00000262407:p.Pro23Thr		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P23T	ENST00000262407.5	37	c.67	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162999	0.57476	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.92048	-2.96;-2.96	5.82	4.85	0.62838	.	0.000000	0.34932	N	0.003571	D	0.91503	0.7317	M	0.75447	2.3	0.80722	D	1	P	0.43024	0.798	B	0.42062	0.374	D	0.91094	0.4909	10	0.51188	T	0.08	.	12.5647	0.56304	0.0806:0.0:0.9194:0.0	.	23	P08514	ITA2B_HUMAN	T	23	ENSP00000262407:P23T;ENSP00000340536:P23T	ENSP00000262407:P23T	P	-	1	0	ITGA2B	39822301	0.990000	0.36364	0.793000	0.32043	0.545000	0.35147	4.839000	0.62810	1.457000	0.47850	0.561000	0.74099	CCT	ITGA2B	-	NULL	ENSG00000005961		0.582	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	HGNC	protein_coding	OTTHUMT00000439823.1		0	39	0	G			42466775	-1			no_errors	ENST00000262407	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.963	T	T	42466775	G	T	42466775	3	4	104	1	0	0	0	0	1	0	0	0	7903	1261	44	3	3172	3	ITGA2B	17	42466775	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	1323431	42466775	38728435	139	29006											
CDC27	996	genome.wustl.edu	37	chr17	45214646	45214646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagcgtaatttggatcaacTtggatagctctctggaagaa	13	12	10	6	1	2	1	1	0	1	1	3	4	2	4	0	3	3	2	0	3	6	5			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr17:45214646T>C	ENST00000066544.3	-	14	1878	c.1785A>G	c.(1783-1785)caA>caG	p.Q595Q	CDC27_ENST00000527547.1_Silent_p.Q594Q|CDC27_ENST00000531206.1_Silent_p.Q601Q|CDC27_ENST00000446365.2_Silent_p.Q534Q	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGGATCAACTTGGATAGCTC	0.388																																																	0													55	58	57					17																	45214646		2203	4299	6502	SO:0001819	synonymous_variant	0			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"Anaphase promoting complex subunits", "Tetratricopeptide (TTC) repeat domain containing"	1728	protein-coding gene	gene with protein product	"anaphase promoting complex subunit 3"	116946	"cell division cycle 27", "cell division cycle 27 homolog (S. cerevisiae)"	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1785A>G	17.37:g.45214646T>C			G3V1C4|Q16349|Q96F35	Silent	SNP	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q601	ENST00000066544.3	37	c.1803	CCDS11509.1	17																																																																																			CDC27	-	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000004897		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2		0	32	0	T			45214646	-1			no_errors	ENST00000531206	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	C	C	45214646	T	C	45214646	2	2	104	1	0	0	0	0	0	0	0	1	3073	1606	56	4		4	CDC27	17	45214646	Silent	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	2747871	45214646	35980564	140	29007											
SMCHD1	23347	genome.wustl.edu	37	chr18	2688439	2688439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagtgccacgcagtttaaAtagtgatatttcctattttg	11	15	7	8	1	0	1	0	1	0	0	1	1	1	1	3	0	1	2	3	0	5	8	rs371805529		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr18:2688439A>G	ENST00000320876.6	+	6	1024	c.686A>G	c.(685-687)aAt>aGt	p.N229S	SMCHD1_ENST00000261598.8_Missense_Mutation_p.N229S|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	229					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CGCAGTTTAAATAGTGATATT	0.348																																																	0								A	SER/ASN	1,3763		0,1,1881	106	102	103		686	5.1	1	18		103	0,8206		0,0,4103	no	missense	SMCHD1	NM_015295.2	46	0,1,5984	GG,GA,AA		0.0,0.0266,0.0084	probably-damaging	229/2006	2688439	1,11969	1882	4103	5985	SO:0001583	missense	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.686A>G	18.37:g.2688439A>G	ENSP00000326603:p.Asn229Ser		O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge	p.N229S	ENST00000320876.6	37	c.686	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	A	20.4	3.988375	0.74589	2.66E-4	0.0	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.25912	1.77;1.78	5.08	5.08	0.68730	ATPase-like, ATP-binding domain (2);	0.058123	0.64402	D	0.000002	T	0.36608	0.0973	N	0.20401	0.57	0.38392	D	0.94542	D	0.76494	0.999	D	0.83275	0.996	T	0.41840	-0.9486	10	0.66056	D	0.02	.	15.1383	0.72586	1.0:0.0:0.0:0.0	.	229	A6NHR9	SMHD1_HUMAN	S	229	ENSP00000326603:N229S;ENSP00000261598:N229S	ENSP00000261598:N229S	N	+	2	0	SMCHD1	2678439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.446000	0.90329	2.024000	0.59613	0.533000	0.62120	AAT	SMCHD1	-	superfamily_HATPase_ATP-bd	ENSG00000101596		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	-	0	56	0	A			2688439	1	tier1	-	no_errors	ENST00000320876	ensembl	human	known	74_37	missense	51.11	22	23	SNP	1.000	G	G	2688439	A	G	2688439	3	3	104	1	0	0	0	0	1	0	0	0	14833	101	4	4	708	4	SMCHD1	18	2688439	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09		2688439	75388809	141	29008											
POTEC	388468	genome.wustl.edu	37	chr18	14542753	14542753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcgacggacgtggtacctCggctccatgaaggcgctgtc	6	9	13	13	5	1	1	0	1	1	0	5	3	2	2	2	4	1	3	2	4	2	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr18:14542753C>T	ENST00000358970.5	-	1	392	c.393G>A	c.(391-393)ccG>ccA	p.P131P	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	131										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CGTGGTACCTCGGCTCCATGA	0.617																																																	0													45	53	51					18																	14542753		692	1590	2282	SO:0001819	synonymous_variant	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33894	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 6"		"ANKRD26-like family B, member 2"	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.393G>A	18.37:g.14542753C>T				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P131	ENST00000358970.5	37	c.393	CCDS45835.1	18																																																																																			POTEC	-	NULL	ENSG00000183206		0.617	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0	191	0	C	XM_496269		14542753	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	silent	25.17	110	37	SNP	0.000	T	T	14542753	C	T	14542753	2	4	104	1	0	0	0	0	0	0	0	1	12301	871	31	1		1	POTEC	18	14542753	Silent	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	11854314	14542753	63534495	142	29009											
SLC14A1	6563	genome.wustl.edu	37	chr18	43310429	43310429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaagaacttgccaaccaGcttaaaggtatttatccttt	14	13	6	8	0	0	2	0	1	0	1	1	2	1	2	3	1	4	2	3	1	7	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr18:43310429G>A	ENST00000321925.4	+	3	376	c.144G>A	c.(142-144)caG>caA	p.Q48Q	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000436407.3_Silent_p.Q104Q|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000589700.1_Silent_p.Q48Q|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000586142.1_Silent_p.Q48Q|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Silent_p.Q104Q	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	48					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTGCCAACCAGCTTAAAGGTA	0.438																																																	0													94	89	90					18																	43310429		2203	4300	6503	SO:0001819	synonymous_variant	0			BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"Blood group antigens", "Solute carriers"	10918	protein-coding gene	gene with protein product		613868	"Kidd blood group", "solute carrier family 14 (urea transporter), member 1"	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.144G>A	18.37:g.43310429G>A			A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Silent	SNP	pfam_Urea_transporter	p.Q104	ENST00000321925.4	37	c.312	CCDS11925.1	18																																																																																			SLC14A1	-	NULL	ENSG00000141469		0.438	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	-	0	21	0	G	NM_015865		43310429	1	tier1	-	no_errors	ENST00000415427	ensembl	human	known	74_37	silent	29.41	12	5	SNP	1.000	A	A	43310429	G	A	43310429	2	1	104	1	0	0	0	0	0	0	0	1	14441	962	34	3		3	SLC14A1	18	43310429	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	28767676	43310429	34766819	143	29010											
LMNB2	84823	genome.wustl.edu	37	chr19	2434295	2434295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcctggcctgccgcacctCtcctcctcgccctccaggag	3	8	8	22	2	1	0	0	0	1	0	6	1	4	1	9	2	1	1	9	2	0	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr19:2434295C>G	ENST00000582871.1	-	7	1226	c.1140G>C	c.(1138-1140)gaG>gaC	p.E380D	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Missense_Mutation_p.E400D	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	380	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCACCTCTCCTCCTCGC	0.687																																																	0													39	31	34					19																	2434295		2200	4299	6499	SO:0001583	missense	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"Intermediate filaments type V, lamins"	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1140G>C	19.37:g.2434295C>G	ENSP00000462730:p.Glu380Asp		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.E400D	ENST00000582871.1	37	c.1200		19	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792471	0.50102	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.25	3.18	0.36537	Filament (1);	0.114460	0.56097	D	0.000021	T	0.41834	0.1176	L	0.48642	1.525	0.50632	D	0.999882	P	0.35628	0.513	B	0.35510	0.204	T	0.29274	-1.0017	9	0.51188	T	0.08	.	6.5618	0.22491	0.0:0.6996:0.0:0.3004	.	380	Q03252	LMNB2_HUMAN	D	380	.	ENSP00000327054:E380D	E	-	3	2	LMNB2	2385295	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.355000	0.34068	0.745000	0.32763	0.561000	0.74099	GAG	LMNB2	-	pfam_IF	ENSG00000176619		0.687	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		-	0	30	0	C	NM_032737		2434295	-1	tier1	-	no_errors	ENST00000325327	ensembl	human	known	74_37	missense	44.12	19	15	SNP	1.000	G	G	2434295	C	G	2434295	3	3	104	1	0	0	0	0	1	0	0	0	8880	912	32	5	686	5	LMNB2	19	2434295	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09		2434295	56694688	144	29011											
PPFIA3	8541	genome.wustl.edu	37	chr19	49652529	49652529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaggcccggcagcttctgGagaaggaattcagcaacctt	10	8	11	12	1	2	1	1	0	1	1	3	3	3	2	3	4	3	3	3	4	3	3			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr19:49652529G>A	ENST00000334186.4	+	27	3650	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E1092K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1101	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCAGCTTCTGGAGAAGGAATT	0.667																																																	0													35	40	39					19																	49652529		2203	4300	6503	SO:0001583	missense	0			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"Sterile alpha motif (SAM) domain containing"	9247	protein-coding gene	gene with protein product	"protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "liprin-alpha 3", "liprin"	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3301G>A	19.37:g.49652529G>A	ENSP00000335614:p.Glu1101Lys		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E1101K	ENST00000334186.4	37	c.3301	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.472922	0.96274	.	.	ENSG00000177380	ENST00000334186	D	0.84370	-1.84	4.29	4.29	0.51040	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.47852	D	0.000218	D	0.88720	0.6513	M	0.69463	2.115	0.80722	D	1	P;D	0.61697	0.483;0.99	B;P	0.53861	0.15;0.736	D	0.90490	0.4466	10	0.87932	D	0	-19.9551	16.0255	0.80541	0.0:0.0:1.0:0.0	.	1092;1101	O75145-2;O75145	.;LIPA3_HUMAN	K	1101	ENSP00000335614:E1101K	ENSP00000335614:E1101K	E	+	1	0	PPFIA3	54344341	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.543000	0.98089	2.390000	0.81377	0.561000	0.74099	GAG	PPFIA3	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000177380		0.667	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	-	0	49	0	G	NM_003660		49652529	1	tier1	-	no_errors	ENST00000334186	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	A	A	49652529	G	A	49652529	3	1	104	1	0	0	0	0	1	0	0	0	12350	1175	41	3	3403	3	PPFIA3	19	49652529	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	47218234	49652529	9476454	145	29012											
ZNF543	125919	genome.wustl.edu	37	chr19	57839161	57839161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaacaactgacacaaGgagcctcaaagaactcccaa	17	4	7	13	0	1	2	1	1	0	1	3	4	3	4	3	2	4	0	3	2	6	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr19:57839161G>A	ENST00000321545.4	+	4	676	c.331G>A	c.(331-333)Gga>Aga	p.G111R		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	111					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACTGACACAAGGAGCCTCAAA	0.512																																																	0													69	70	70					19																	57839161		2203	4300	6503	SO:0001583	missense	0			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"Zinc fingers, C2H2-type", "-"	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.331G>A	19.37:g.57839161G>A	ENSP00000322545:p.Gly111Arg		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G111R	ENST00000321545.4	37	c.331	CCDS33130.1	19	.	.	.	.	.	.	.	.	.	.	G	2.330	-0.353608	0.05173	.	.	ENSG00000178229	ENST00000321545	T	0.34275	1.37	2.87	-0.694	0.11294	.	.	.	.	.	T	0.14570	0.0352	N	0.05230	-0.09	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.26258	-1.0108	9	0.23891	T	0.37	.	4.3987	0.11376	0.2678:0.2246:0.5076:0.0	.	111	Q08ER8	ZN543_HUMAN	R	111	ENSP00000322545:G111R	ENSP00000322545:G111R	G	+	1	0	ZNF543	62530973	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.763000	0.04740	-0.174000	0.10743	0.555000	0.69702	GGA	ZNF543	-	NULL	ENSG00000178229		0.512	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	HGNC	protein_coding	OTTHUMT00000465780.1	-	0	37	0	G	XM_064865		57839161	1	tier1	-	no_errors	ENST00000321545	ensembl	human	known	74_37	missense	27.59	21	8	SNP	0.000	A	A	57839161	G	A	57839161	3	1	104	1	0	0	0	0	1	0	0	0	18024	1001	35	3	345	3	ZNF543	19	57839161	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	8186632	57839161	1289822	146	29013											
ZNF134	7693	genome.wustl.edu	37	chr19	58131694	58131694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacctggatgaacaccaGggtacacaccatggactgaa	13	7	10	11	0	0	2	0	2	0	0	0	4	0	4	3	3	3	2	3	3	3	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr19:58131694G>T	ENST00000396161.5	+	3	517	c.207G>T	c.(205-207)caG>caT	p.Q69H	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	69					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGAACACCAGGGTACACACC	0.473																																																	0													111	107	108					19																	58131694		2045	4224	6269	SO:0001583	missense	0			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"Zinc fingers, C2H2-type"	12918	protein-coding gene	gene with protein product		604076	"zinc finger protein 134 (clone pHZ-15)"			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.207G>T	19.37:g.58131694G>T	ENSP00000379464:p.Gln69His		Q9Y4B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q69H	ENST00000396161.5	37	c.207	CCDS42638.1	19	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725256	0.68959	.	.	ENSG00000213762	ENST00000418193;ENST00000396161	T	0.18502	2.21	3.83	-2.85	0.05734	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16514	0.0397	M	0.79123	2.44	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.41680	-0.9495	9	0.52906	T	0.07	.	1.2677	0.02014	0.2782:0.1391:0.4222:0.1605	.	69	P52741	ZN134_HUMAN	H	136;69	ENSP00000379464:Q69H	ENSP00000379464:Q69H	Q	+	3	2	ZNF134	62823506	0.000000	0.05858	0.000000	0.03702	0.930000	0.56654	-1.322000	0.02695	-0.535000	0.06307	-0.274000	0.10170	CAG	ZNF134	-	smart_Znf_C2H2-like	ENSG00000213762		0.473	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF134	HGNC	protein_coding	OTTHUMT00000466808.1	-	0	48	0	G	NM_003435		58131694	1	tier1	-	no_errors	ENST00000396161	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.000	T	T	58131694	G	T	58131694	3	4	104	1	0	0	0	0	1	0	0	0	17772	991	35	3	213	3	ZNF134	19	58131694	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	292533	58131694	997289	147	29014											
ZNF274	10782	genome.wustl.edu	37	chr19	58718140	58718140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctcttcctgctgagagtCccctaatgaacattgaggtt	9	13	8	11	0	1	3	0	3	1	1	4	4	4	3	4	1	2	2	4	1	2	4	rs201074514		TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr19:58718140C>T	ENST00000326804.4	+	5	769	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	ZNF274_ENST00000424679.2_5'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.P72S|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TGCTGAGAGTCCCCTAATGAA	0.498																																																	0													26	28	28					19																	58718140		1961	4167	6128	SO:0001583	missense	0			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"Zinc fingers, C2H2-type", "-", "-", "-"	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.310C>T	19.37:g.58718140C>T	ENSP00000321209:p.Pro104Ser		Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.P104S	ENST00000326804.4	37	c.310		19	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939763	0.52972	.	.	ENSG00000171606	ENST00000326804;ENST00000345813	T;T	0.06371	3.34;3.31	3.74	3.74	0.42951	.	0.462814	0.16136	N	0.227945	T	0.16896	0.0406	L	0.59436	1.845	0.53688	D	0.999974	D;D	0.61080	0.989;0.982	P;P	0.61132	0.884;0.769	T	0.00317	-1.1822	10	0.56958	D	0.05	-12.0344	11.3464	0.49563	0.0:1.0:0.0:0.0	.	72;104	Q96GC6-2;Q96GC6	.;ZN274_HUMAN	S	104;72	ENSP00000321209:P104S;ENSP00000321187:P72S	ENSP00000321209:P104S	P	+	1	0	ZNF274	63409952	0.506000	0.26139	0.222000	0.23844	0.920000	0.55202	1.958000	0.40402	2.394000	0.81467	0.462000	0.41574	CCC	ZNF274	-	NULL	ENSG00000171606		0.498	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF274	HGNC	protein_coding		-	0	64	0	C	NM_133502		58718140	1	tier1	-	no_errors	ENST00000326804	ensembl	human	known	74_37	missense	51.52	31	34	SNP	0.229	T	T	58718140	C	T	58718140	3	4	104	1	0	0	0	0	1	0	0	0	17857	855	30	3	324	3	ZNF274	19	58718140	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09	586446	58718140	410843	148	29015											
CCT8L2	150160	genome.wustl.edu	37	chr22	17072831	17072831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcagcgcgcacacccCaacacgctcaggcttgaagc	9	3	11	18	4	1	1	1	1	0	0	1	1	1	1	3	2	3	4	3	2	2	1			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr22:17072831C>T	ENST00000359963.3	-	1	869	c.610G>A	c.(610-612)Ggg>Agg	p.G204R		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	204					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCGCACACCCCAACACGCTCA	0.612																																																	0													66	64	65					22																	17072831		2203	4300	6503	SO:0001583	missense	0			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.610G>A	22.37:g.17072831C>T	ENSP00000353048:p.Gly204Arg		A4QPH3|Q9UJS3	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1	p.G204R	ENST00000359963.3	37	c.610	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	c	3.177	-0.168722	0.06461	.	.	ENSG00000198445	ENST00000359963	T	0.80214	-1.35	1.98	1.98	0.26296	.	0.520533	0.14294	U	0.328760	T	0.53514	0.1801	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.40776	-0.9545	10	0.08837	T	0.75	-12.081	7.4423	0.27190	0.0:1.0:0.0:0.0	.	204	Q96SF2	TCPQM_HUMAN	R	204	ENSP00000353048:G204R	ENSP00000353048:G204R	G	-	1	0	CCT8L2	15452831	0.000000	0.05858	0.043000	0.18650	0.047000	0.14425	-0.109000	0.10840	1.115000	0.41800	0.379000	0.24179	GGG	CCT8L2	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000198445		0.612	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	HGNC	protein_coding	OTTHUMT00000280580.1	-	0	63	0	C			17072831	-1	tier1	-	no_errors	ENST00000359963	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.008	T	T	17072831	C	T	17072831	3	4	104	1	0	0	0	0	1	0	0	0	2968	594	21	3	1067	3	CCT8L2	22	17072831	Missense_Mutation	SNP	C	TCGA-LN-A49R-01A-11D-A247-09		17072831	34231735	149	29016											
DGCR2	9993	genome.wustl.edu	37	chr22	19052582	19052582	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcacttccctaggaaacaTaaaggacagaaggggagttg	14	6	14	7	0	0	1	0	0	0	1	1	4	1	4	1	5	1	2	1	5	5	4			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chr22:19052582T>C	ENST00000263196.7	-	4	576		c.e4-2		DGCR2_ENST00000537045.1_Splice_Site|DGCR2_ENST00000545799.1_Intron|DGCR2_ENST00000473832.1_Intron	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2						cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTAGGAAACATAAAGGACAGA	0.547																																																	0													26	23	24					22																	19052582		2203	4300	6503	SO:0001630	splice_region_variant	0			D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"integral membrane protein DGCR2"	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.329-2A>G	22.37:g.19052582T>C			A6NIB5|A8K6K5|B5TY34|B7Z935	Splice_Site	SNP	-	e4-2	ENST00000263196.7	37	c.329-2	CCDS33598.1	22	.	.	.	.	.	.	.	.	.	.	T	18.98	3.737462	0.69304	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000447928	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7087	0.69211	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DGCR2	17432582	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.055000	0.57441	1.956000	0.56807	0.383000	0.25322	.	DGCR2	-	-	ENSG00000070413		0.547	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DGCR2	HGNC	protein_coding	OTTHUMT00000316504.1	-	0	15	0	T	NM_005137	Intron	19052582	-1	tier1	-	no_errors	ENST00000263196	ensembl	human	known	74_37	splice_site	52.94	8	9	SNP	1.000	C	C	19052582	T	C	19052582	5	2	104	1	0	0	0	0	0	0	1	0	4475	1420	49	4	1353	4	DGCR2	22	19052582	Splice_Site	SNP	T	TCGA-LN-A49R-01A-11D-A247-09	1979751	19052582	32251984	150	29017											
BEND2	139105	genome.wustl.edu	37	chrX	18189223	18189223	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttttgtgaagagtttctGaataaggtatctagccgaca	12	14	9	6	1	3	3	0	2	3	1	3	4	3	3	1	1	1	2	1	1	5	6			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chrX:18189223G>A	ENST00000380033.4	-	13	2215	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*	BEND2_ENST00000380030.3_Nonsense_Mutation_p.Q604*	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	695	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAGAGTTTCTGAATAAGGTAT	0.448																																																	0													180	157	165					X																	18189223		2203	4300	6503	SO:0001587	stop_gained	0			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"BEN domain containing"	28509	protein-coding gene	gene with protein product			"chromosome X open reading frame 20"	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2083C>T	X.37:g.18189223G>A	ENSP00000369372:p.Gln695*		E9PFY2|Q4V9S2|Q5JXE5	Nonsense_Mutation	SNP	pfam_BEN_domain	p.Q695*	ENST00000380033.4	37	c.2083	CCDS14184.1	X	.	.	.	.	.	.	.	.	.	.	G	16.39	3.111254	0.56398	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	.	.	.	5.49	3.71	0.42584	.	0.479094	0.17820	N	0.160895	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-0.2253	3.9627	0.09418	0.0898:0.1567:0.5887:0.1648	.	.	.	.	X	695;604	.	ENSP00000369369:Q604X	Q	-	1	0	BEND2	18099144	0.975000	0.34042	0.002000	0.10522	0.009000	0.06853	2.492000	0.45311	0.491000	0.27793	0.556000	0.70494	CAG	BEND2	-	pfam_BEN_domain	ENSG00000177324		0.448	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND2	HGNC	protein_coding	OTTHUMT00000055940.1	-	0	17	0	G	NM_153346		18189223	-1	tier1	-	no_errors	ENST00000380033	ensembl	human	known	74_37	nonsense	81.82	2	9	SNP	0.004	A	A	18189223	G	A	18189223	4	1	104	1	0	0	0	0	0	1	0	0	1399	1299	45	3	350	3	BEND2	23	18189223	Nonsense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09		18189223	137081337	151	29018											
DMD	1756	genome.wustl.edu	37	chrX	32472792	32472792	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttaccttcatctcttcaActgctttctgtaattcatct	7	21	2	11	0	6	0	3	0	3	0	7	0	6	0	1	0	3	2	1	0	3	8			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chrX:32472792A>T	ENST00000357033.4	-	26	3796	c.3590T>A	c.(3589-3591)gTt>gAt	p.V1197D	DMD_ENST00000378677.2_Missense_Mutation_p.V1193D	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1197			V -> F (in dbSNP:rs1800262). {ECO:0000269|PubMed:2668885}.		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATCTCTTCAACTGCTTTCTG	0.308																																																	0													82	78	79					X																	32472792		2201	4300	6501	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.3590T>A	X.37:g.32472792A>T	ENSP00000354923:p.Val1197Asp		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.V1197D	ENST00000357033.4	37	c.3590	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041706	0.75732	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35789	1.29;1.29	5.25	5.25	0.73442	.	0.000000	0.33496	U	0.004856	T	0.48077	0.1480	L	0.32530	0.975	0.80722	D	1	D;D;D	0.71674	0.99;0.998;0.992	P;D;D	0.68483	0.885;0.958;0.93	T	0.49123	-0.8972	10	0.59425	D	0.04	.	14.2916	0.66281	1.0:0.0:0.0:0.0	.	1189;1197;1193	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	D	1189;1193;1197;1197;1074	ENSP00000367948:V1193D;ENSP00000354923:V1197D	ENSP00000354923:V1197D	V	-	2	0	DMD	32382713	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.212000	0.95126	1.753000	0.51906	0.481000	0.45027	GTT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.308	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	28	0	A	NM_004006		32472792	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T	T	32472792	A	T	32472792	3	4	104	1	0	0	0	0	1	0	0	0	4594	43	2	5	7926	5	DMD	23	32472792	Missense_Mutation	SNP	A	TCGA-LN-A49R-01A-11D-A247-09	14283569	32472792	122797768	152	29019											
HUWE1	10075	genome.wustl.edu	37	chrX	53579695	53579695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaggagtggagctgcctGctctgggctgctcagaactg	6	8	14	13	0	2	1	1	0	1	1	2	3	2	3	3	3	5	4	3	3	1	0			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chrX:53579695G>T	ENST00000342160.3	-	61	9111	c.8654C>A	c.(8653-8655)gCa>gAa	p.A2885E	HUWE1_ENST00000262854.6_Missense_Mutation_p.A2885E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2885					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGAGCTGCCTGCTCTGGGCTG	0.597																																																	0													47	44	45					X																	53579695		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"HECT, UBA and WWE domain containing 1"			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8654C>A	X.37:g.53579695G>T	ENSP00000340648:p.Ala2885Glu		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A2885E	ENST00000342160.3	37	c.8654	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.03|10.03	1.238702|1.238702	0.22711|0.22711	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.37235|.	1.21;1.21|.	5.58|5.58	2.77|2.77	0.32553|0.32553	.|.	0.502966|.	0.19842|.	N|.	0.104834|.	T|T	0.24392|0.24392	0.0591|0.0591	N|N	0.08118|0.08118	0|0	0.34039|0.34039	D|D	0.654786|0.654786	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.25813|0.25813	-1.0121|-1.0121	10|5	0.10111|.	T|.	0.7|.	.|.	5.2051|5.2051	0.15287|0.15287	0.2499:0.1523:0.5978:0.0|0.2499:0.1523:0.5978:0.0	.|.	2885;2885|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	E|R	2885|1918	ENSP00000340648:A2885E;ENSP00000262854:A2885E|.	ENSP00000262854:A2885E|.	A|S	-|-	2|3	0|2	HUWE1|HUWE1	53596420|53596420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	1.921000|1.921000	0.40035|0.40035	0.613000|0.613000	0.30089|0.30089	0.600000|0.600000	0.82982|0.82982	GCA|AGC	HUWE1	-	NULL	ENSG00000086758		0.597	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0	20	0	G	XM_497119		53579695	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	25.00	8	3	SNP	0.973	T	T	53579695	G	T	53579695	3	4	104	1	0	0	0	0	1	0	0	0	7488	1319	46	3	4562	3	HUWE1	23	53579695	Missense_Mutation	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	21106903	53579695	101690865	153	29020											
MAGEC2	51438	genome.wustl.edu	37	chrX	141291732	141291732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactgaggtcggggagtcGttgtcaacgttgcggaatgg	8	10	16	7	4	2	1	2	1	0	0	4	3	2	3	0	5	3	2	0	5	3	2			TCGA-LN-A49R-01A-11D-A247-09	TCGA-LN-A49R-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7974aaf3-a7cb-40eb-8732-050581665d20	64b8eb74-7f4f-4df6-83c4-84fa94ee7f32	g.chrX:141291732G>A	ENST00000247452.3	-	3	389	c.42C>T	c.(40-42)aaC>aaT	p.N14N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	14					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGAGTCGTTGTCAACGT	0.527										HNSCC(46;0.14)																																							0													124	114	118					X																	141291732		2203	4300	6503	SO:0001819	synonymous_variant	0			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"cancer/testis antigen 10"	300468	"melanoma antigen, family E, 1, cancer/testis specific"	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.42C>T	X.37:g.141291732G>A			Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.N14	ENST00000247452.3	37	c.42	CCDS14678.1	X																																																																																			MAGEC2	-	NULL	ENSG00000046774		0.527	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEC2	HGNC	protein_coding	OTTHUMT00000058611.1	-	0	19	0	G	NM_016249		141291732	-1	tier1	-	no_errors	ENST00000247452	ensembl	human	known	74_37	silent	80.00	3	12	SNP	0.000	A	A	141291732	G	A	141291732	2	1	104	1	0	0	0	0	0	0	0	1	9219	1136	40	1		1	MAGEC2	23	141291732	Silent	SNP	G	TCGA-LN-A49R-01A-11D-A247-09	87712037	141291732	13978828	154	29021											
RCC2	55920	genome.wustl.edu	37	chr1	17747270	17747270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctttgcagtccattatcaTactgaattcagccccacagg	10	12	6	13	0	2	1	2	1	0	0	4	1	4	1	4	1	3	1	4	1	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:17747270T>C	ENST00000375436.4	-	7	986	c.799A>G	c.(799-801)Atg>Gtg	p.M267V	RCC2_ENST00000375433.3_Missense_Mutation_p.M267V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	267					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		TCCATTATCATACTGAATTCA	0.388																																																	0													71	70	71					1																	17747270		2203	4300	6503	SO:0001583	missense	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.799A>G	1.37:g.17747270T>C	ENSP00000364585:p.Met267Val		Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens	p.M267V	ENST00000375436.4	37	c.799	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	T	15.43	2.831690	0.50845	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.83250	-1.7;-1.7	5.45	5.45	0.79879	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.83087	0.5178	N	0.20530	0.585	0.58432	D	0.999999	P	0.50156	0.932	D	0.67103	0.949	T	0.79990	-0.1570	10	0.18710	T	0.47	-44.4504	14.6288	0.68640	0.0:0.0:0.0:1.0	.	267	Q9P258	RCC2_HUMAN	V	267	ENSP00000364585:M267V;ENSP00000364582:M267V	ENSP00000364582:M267V	M	-	1	0	RCC2	17619857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.937000	0.87672	2.196000	0.70406	0.533000	0.62120	ATG	RCC2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000179051		0.388	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	-	0	29	0	T	NM_018715		17747270	-1	tier1	-	no_errors	ENST00000375433	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	C	C	17747270	T	C	17747270	3	2	105	1	0	0	0	0	1	0	0	0	13219	1406	49	4	797	4	RCC2	1	17747270	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09		17747270	231503351	1	29022											
RHCE	23585	genome.wustl.edu	37	chr1	25689023	25689023	+	IGR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggatgcttttgcttaaaAtccaacagccaaatgaggaa	14	11	8	8	0	0	1	0	1	0	0	1	3	1	3	2	2	4	2	2	2	5	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:25689023A>G	ENST00000374358.4	+	0	2683				RHCE_ENST00000374352.2_Missense_Mutation_p.F401L|RHCE_ENST00000349438.4_3'UTR|RHCE_ENST00000349320.3_Missense_Mutation_p.F401L|RHCE_ENST00000243186.6_3'UTR|RHCE_ENST00000413854.1_Silent_p.D365D|RHCE_ENST00000294413.7_Missense_Mutation_p.F417L|RHCE_ENST00000455194.1_Missense_Mutation_p.F312L|RHCE_ENST00000340849.4_3'UTR|RHCE_ENST00000425135.1_3'UTR|RHCE_ENST00000346452.4_Missense_Mutation_p.F266L	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTTGCTTAAAATCCAACAGCC	0.388																																																	0													60	55	57					1																	25689023		2202	4280	6482	SO:0001628	intergenic_variant	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"small membrane protein 1"	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651		1.37:g.25689023A>G				Missense_Mutation	SNP	pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD	p.F417L	ENST00000374358.4	37	c.1249	CCDS264.1	1	.	.	.	.	.	.	.	.	.	.	.	15.56	2.870944	0.51695	.	.	ENSG00000188672	ENST00000539650;ENST00000455194;ENST00000374352;ENST00000349320;ENST00000346452;ENST00000294413	T;T;T;T;T	0.22743	1.94;2.06;2.06;2.33;2.26	5.51	3.2	0.36748	.	0.627020	0.16009	N	0.233907	T	0.41511	0.1162	M	0.73962	2.25	0.80722	D	1	D;B;D	0.57571	0.98;0.104;0.98	P;B;D	0.68483	0.847;0.056;0.958	T	0.13229	-1.0517	10	0.87932	D	0	.	6.9836	0.24715	0.7402:0.0:0.2598:0.0	.	401;266;417	Q5VSJ9;E7EQ47;P18577	.;.;RHCE_HUMAN	L	346;312;401;401;266;417	ENSP00000416275:F312L;ENSP00000363472:F401L;ENSP00000311185:F401L;ENSP00000344485:F266L;ENSP00000294413:F417L	ENSP00000294413:F417L	F	-	1	0	RHCE	25561610	1.000000	0.71417	0.983000	0.44433	0.938000	0.57974	2.678000	0.46900	0.392000	0.25172	-0.263000	0.10527	TTT	RHCE	-	NULL	ENSG00000188672		0.388	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020313.1	-	0	57	0	A			25689023	-1	tier1	-	no_errors	ENST00000294413	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.995	G	G	25689023	A	G	25689023	1	3	105	0	1	0	0	0	0	0	0	0	13370	101	4	4		4	RHCE	1	25689023	IGR	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	7941753	25689023	223561598	2	29023											
MAN1C1	57134	genome.wustl.edu	37	chr1	26104684	26104684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gattctggaccacaagatggGgcacctggcctgtttctccg	7	10	12	12	1	2	1	0	0	2	1	3	3	2	2	4	4	0	2	4	4	1	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:26104684G>T	ENST00000374332.4	+	9	1676	c.1346G>T	c.(1345-1347)gGg>gTg	p.G449V	MAN1C1_ENST00000263979.3_Missense_Mutation_p.G269V|MAN1C1_ENST00000374329.1_Missense_Mutation_p.G220V	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	449					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CACAAGATGGGGCACCTGGCC	0.622																																																	0													47	50	49					1																	26104684		2203	4300	6503	SO:0001583	missense	0			AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1346G>T	1.37:g.26104684G>T	ENSP00000363452:p.Gly449Val		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.G449V	ENST00000374332.4	37	c.1346	CCDS265.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859096	0.91433	.	.	ENSG00000117643	ENST00000374332;ENST00000374331;ENST00000263979;ENST00000374329	T;T;T	0.71817	-0.6;-0.6;-0.6	5.21	4.3	0.51218	.	0.046874	0.85682	D	0.000000	D	0.86096	0.5851	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88972	0.3401	10	0.87932	D	0	.	13.6341	0.62213	0.0738:0.0:0.9262:0.0	.	449	Q9NR34	MA1C1_HUMAN	V	449;269;269;220	ENSP00000363452:G449V;ENSP00000263979:G269V;ENSP00000363449:G220V	ENSP00000263979:G269V	G	+	2	0	MAN1C1	25977271	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.581000	0.98210	1.426000	0.47256	0.655000	0.94253	GGG	MAN1C1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	ENSG00000117643		0.622	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1C1	HGNC	protein_coding	OTTHUMT00000012828.3	-	0	43	0	G	NM_020379		26104684	1	tier1	-	no_errors	ENST00000374332	ensembl	human	known	74_37	missense	43.33	17	13	SNP	1.000	T	T	26104684	G	T	26104684	3	4	105	1	0	0	0	0	1	0	0	0	9251	1232	43	3	1380	3	MAN1C1	1	26104684	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	415661	26104684	223145937	3	29024											
CSMD2	114784	genome.wustl.edu	37	chr1	34164367	34164367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccgacacaggtgggcAgaggccggtcccaggtccgg	7	5	15	14	3	0	1	0	0	0	1	3	2	3	1	5	6	1	1	5	6	1	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:34164367A>G	ENST00000373380.1	-	3	750	c.530T>C	c.(529-531)cTg>cCg	p.L177P	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.L1304P			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1264	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGGTGGGCAGAGGCCGGTC	0.607																																																	0													61	63	62					1																	34164367		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.530T>C	1.37:g.34164367A>G	ENSP00000362478:p.Leu177Pro		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.L1304P	ENST00000373380.1	37	c.3911		1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430881	0.83776	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.65549	-0.16;-0.16	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.72145	0.3424	L	0.43646	1.37	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	1.0;0.995;0.99	T	0.68945	-0.5275	10	0.30078	T	0.28	.	15.5474	0.76118	1.0:0.0:0.0:0.0	.	177;1264;1304	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	P	1304;177	ENSP00000362479:L1304P;ENSP00000362478:L177P	ENSP00000241312:L1264P	L	-	2	0	CSMD2	33936954	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.480000	0.81109	2.322000	0.78497	0.528000	0.53228	CTG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.607	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	-	0	31	0	A	NM_052896		34164367	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	G	G	34164367	A	G	34164367	3	3	105	1	0	0	0	0	1	0	0	0	3954	188	7	4	6856	4	CSMD2	1	34164367	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	8059683	34164367	215086254	4	29025											
CCDC30	728621	genome.wustl.edu	37	chr1	43102995	43102995	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagtagaactacgagataaGagaattaaccaatttgaaga	20	8	9	4	1	0	5	0	1	0	4	0	8	0	5	1	0	3	1	1	0	9	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:43102995G>C	ENST00000340612.4	+	10	1584	c.1584G>C	c.(1582-1584)aaG>aaC	p.K528N	CCDC30_ENST00000428554.2_Missense_Mutation_p.K528N|CCDC30_ENST00000507855.1_Missense_Mutation_p.K317N|CCDC30_ENST00000390640.4_Missense_Mutation_p.K317N|CCDC30_ENST00000342022.4_Missense_Mutation_p.K528N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	528						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TACGAGATAAGAGAATTAACC	0.318																																																	0													62	64	64					1																	43102995		2203	4299	6502	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"prefoldin 6-like"					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1584G>C	1.37:g.43102995G>C	ENSP00000340378:p.Lys528Asn		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.K528N	ENST00000340612.4	37	c.1584	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437019	0.25900	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.15	1.07	0.20283	.	0.823335	0.11402	N	0.567712	T	0.29620	0.0739	L	0.36672	1.1	0.28750	N	0.901509	B;P	0.47910	0.358;0.902	B;B	0.43301	0.124;0.415	T	0.15292	-1.0442	10	0.25106	T	0.35	.	4.7983	0.13282	0.2685:0.1581:0.5734:0.0	.	528;317	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	N	528;317;528;528;317	ENSP00000397035:K528N;ENSP00000426711:K317N;ENSP00000340378:K528N;ENSP00000339280:K528N;ENSP00000375051:K317N	ENSP00000340378:K528N	K	+	3	2	CCDC30	42875582	0.255000	0.24002	0.956000	0.39512	0.372000	0.29890	0.144000	0.16135	0.331000	0.23511	0.555000	0.69702	AAG	CCDC30	-	NULL	ENSG00000186409		0.318	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3		0	35	0	G	NM_025030		43102995	1			no_errors	ENST00000340612	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.975	C	C	43102995	G	C	43102995	3	2	105	1	0	0	0	0	1	0	0	0	2812	933	33	5	1622	5	CCDC30	1	43102995	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	8938628	43102995	206147626	5	29026											
OSBPL9	114883	genome.wustl.edu	37	chr1	52246895	52246895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttgtgaaatggtacctctCagcctttcatgcgggaagga	9	11	13	8	1	2	1	2	1	1	0	3	3	2	3	2	4	3	2	2	4	3	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:52246895C>T	ENST00000428468.1	+	16	1318	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	OSBPL9_ENST00000371714.1_Missense_Mutation_p.S426L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S358L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S457L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S274L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S444L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S449L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S422L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S329L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S274L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S261L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S261L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	439					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGTACCTCTCAGCCTTTCAT	0.433																																																	0													134	109	118					1																	52246895		2203	4300	6503	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1316C>T	1.37:g.52246895C>T	ENSP00000407168:p.Ser439Leu		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S457L	ENST00000428468.1	37	c.1370	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	C	36	5.662139	0.96734	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.08	5.08	0.68730	.	0.132267	0.53938	D	0.000056	T	0.80544	0.4643	H	0.97540	4.025	0.80722	D	1	D;P;D;P;D	0.64830	0.994;0.889;0.975;0.909;0.986	D;P;P;P;P	0.75020	0.985;0.748;0.876;0.837;0.843	D	0.87601	0.2497	10	0.87932	D	0	-9.2366	18.6562	0.91455	0.0:1.0:0.0:0.0	.	422;329;455;439;444	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	426;457;444;449;274;439;422;358;274;329;261;261	ENSP00000360779:S426L;ENSP00000360775:S457L;ENSP00000337265:S444L;ENSP00000412733:S449L;ENSP00000402646:S274L;ENSP00000407168:S439L;ENSP00000413263:S422L;ENSP00000433675:S358L;ENSP00000433083:S274L;ENSP00000354970:S329L;ENSP00000433279:S261L;ENSP00000431980:S261L	ENSP00000337265:S444L	S	+	2	0	OSBPL9	52019483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.311000	0.78958	2.644000	0.89710	0.655000	0.94253	TCA	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.433	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4		0	67	0	C			52246895	1			no_errors	ENST00000371710	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T	T	52246895	C	T	52246895	3	4	105	1	0	0	0	0	1	0	0	0	11323	838	29	3	1482	3	OSBPL9	1	52246895	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	9143900	52246895	197003726	6	29027											
ZNF644	84146	genome.wustl.edu	37	chr1	91406272	91406272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattaaagtgccatctgaCtttatattactccctactga	11	17	4	9	0	1	2	0	2	1	0	2	2	2	2	2	0	3	0	2	0	7	8	rs141502892	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:91406272C>T	ENST00000370440.1	-	3	856	c.639G>A	c.(637-639)aaG>aaA	p.K213K	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.K213K|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGCCATCTGACTTTATATTAC	0.388													C|||	2	0.000399361	0	0.0014	5008	,	,		20276	0		0.001	False		,,,				2504	0																0								C	,,	0,4406		0,0,2203	156	164	161		,,639	5.1	1	1	dbSNP_134	161	13,8587	10.5+/-38.8	0,13,4287	no	intron,intron,coding-synonymous	ZNF644	NM_016620.3,NM_032186.4,NM_201269.2	,,	0,13,6490	TT,TC,CC		0.1512,0.0,0.1	,,	,,213/1328	91406272	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.639G>A	1.37:g.91406272C>T			A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K213	ENST00000370440.1	37	c.639	CCDS731.1	1																																																																																			ZNF644	-	NULL	ENSG00000122482		0.388	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2		0	52	0	C	NM_032186		91406272	-1			no_errors	ENST00000337393	ensembl	human	known	74_37	silent	5.88	47	3	SNP	1.000	T	T	91406272	C	T	91406272	2	4	105	1	0	0	0	0	0	0	0	1	18108	564	20	3		3	ZNF644	1	91406272	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	39159377	91406272	157844349	7	29028											
AGL	178	genome.wustl.edu	37	chr1	100361905	100361905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatacttttattgcacttaGaggtatactgctgattactg	10	16	9	6	0	0	2	0	1	0	1	0	3	0	3	0	2	5	3	0	2	6	8			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:100361905G>C	ENST00000294724.4	+	25	3801	c.3323G>C	c.(3322-3324)aGa>aCa	p.R1108T	AGL_ENST00000370165.3_Missense_Mutation_p.R1108T|AGL_ENST00000370163.3_Missense_Mutation_p.R1108T|AGL_ENST00000370161.2_Missense_Mutation_p.R1092T|AGL_ENST00000361302.3_Missense_Mutation_p.R1092T|AGL_ENST00000361522.4_Missense_Mutation_p.R1091T|AGL_ENST00000361915.3_Missense_Mutation_p.R1108T	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1108					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATTGCACTTAGAGGTATACTG	0.388																																																	0													224	199	207					1																	100361905		2203	4300	6503	SO:0001583	missense	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"glycogen debranching enzyme", "glycogen storage disease type III"	610860	"amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3323G>C	1.37:g.100361905G>C	ENSP00000294724:p.Arg1108Thr		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.R1108T	ENST00000294724.4	37	c.3323	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479324	0.84747	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.94	5.04	0.67666	Six-hairpin glycosidase-like (1);	0.044996	0.85682	D	0.000000	T	0.79511	0.4458	M	0.87617	2.895	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.987	D;D;D	0.66979	0.948;0.948;0.944	D	0.84243	0.0473	10	0.72032	D	0.01	.	15.1059	0.72322	0.0675:0.0:0.9325:0.0	.	1091;1092;1108	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	T	1108;1108;1108;1108;1092;1092;1091	ENSP00000355106:R1108T;ENSP00000359184:R1108T;ENSP00000359182:R1108T;ENSP00000294724:R1108T;ENSP00000354971:R1092T;ENSP00000359180:R1092T;ENSP00000354635:R1091T	ENSP00000294724:R1108T	R	+	2	0	AGL	100134493	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.635000	0.83286	1.530000	0.49136	0.650000	0.86243	AGA	AGL	-	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.388	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1		0	82	0	G	NM_000028		100361905	1			no_errors	ENST00000294724	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	C	C	100361905	G	C	100361905	3	2	105	1	0	0	0	0	1	0	0	0	384	942	33	5	3486	5	AGL	1	100361905	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	8955633	100361905	148888716	8	29029											
RNPC3	55599	genome.wustl.edu	37	chr1	104093612	104093612	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaaaggacaagctttcAttggacttcctaatgaaaaa	16	11	8	6	0	1	2	1	2	0	0	2	4	2	4	1	2	1	2	1	2	6	5	rs368201291		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:104093612A>C	ENST00000533099.1	+	14	1647	c.1411A>C	c.(1411-1413)Att>Ctt	p.I471L	RNPC3_ENST00000423855.2_Missense_Mutation_p.I471L|RNPC3_ENST00000524631.1_Missense_Mutation_p.I470L			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	471	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		ACAAGCTTTCATTGGACTTCC	0.358																																																	0													79	76	77					1																	104093612		1836	4085	5921	SO:0001583	missense	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"RNA binding motif (RRM) containing"	18666	protein-coding gene	gene with protein product	"U11/U12 snRNP 65K"					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.1411A>C	1.37:g.104093612A>C	ENSP00000432886:p.Ile471Leu		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.I471L	ENST00000533099.1	37	c.1411	CCDS781.1	1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015282	0.35511	.	.	ENSG00000185946	ENST00000524631;ENST00000533099;ENST00000423855	T;T;T	0.19394	2.15;2.15;2.15	5.16	1.56	0.23342	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.10165	0.0249	L	0.56396	1.775	0.40304	D	0.978646	B;B	0.17268	0.021;0.011	B;B	0.28465	0.09;0.063	T	0.05305	-1.0893	9	0.44086	T	0.13	-6.3692	8.8727	0.35325	0.7793:0.0:0.2207:0.0	.	470;471	A8K1C9;Q96LT9	.;RBM40_HUMAN	L	470;471;471	ENSP00000437278:I470L;ENSP00000432886:I471L;ENSP00000391432:I471L	ENSP00000391432:I471L	I	+	1	0	RNPC3	103895135	0.955000	0.32602	0.997000	0.53966	0.979000	0.70002	1.057000	0.30492	0.065000	0.16485	-0.264000	0.10439	ATT	RNPC3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000185946		0.358	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	-	0	40	0	A	NM_017619		104093612	1	tier1	-	no_errors	ENST00000423855	ensembl	human	known	74_37	missense	24.00	19	6	SNP	0.999	C	C	104093612	A	C	104093612	3	2	105	1	0	0	0	0	1	0	0	0	13553	217	8	4	300	4	RNPC3	1	104093612	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	3731707	104093612	145157009	9	29030											
FAM40A	85369	genome.wustl.edu	37	chr1	110590208	110590208	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcagaaaccctctaccaAggcttgctccccagcctgcc	8	7	7	19	0	1	1	0	0	1	1	2	1	2	1	7	1	6	3	7	1	3	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:110590208A>T	ENST00000369795.3	+	14	1555	c.1533A>T	c.(1531-1533)caA>caT	p.Q511H	STRIP1_ENST00000369796.1_Missense_Mutation_p.Q416H|STRIP1_ENST00000461054.1_3'UTR	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	511					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											CCCTCTACCAAGGCTTGCTCC	0.532																																																	0													83	76	78					1																	110590208		2203	4300	6503	SO:0001583	missense	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog A (yeast)"		"family with sequence similarity 40, member A"	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1533A>T	1.37:g.110590208A>T	ENSP00000358810:p.Gln511His		Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.Q511H	ENST00000369795.3	37	c.1533	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929195	0.52759	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.48522	0.81;0.81	4.9	3.75	0.43078	.	0.058000	0.64402	D	0.000001	T	0.36331	0.0963	M	0.85099	2.735	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.17979	0.003;0.02	T	0.48305	-0.9047	10	0.45353	T	0.12	-10.4079	9.2319	0.37441	0.856:0.0:0.144:0.0	.	416;511	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	H	416;511	ENSP00000358811:Q416H;ENSP00000358810:Q511H	ENSP00000358810:Q511H	Q	+	3	2	FAM40A	110391731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.130000	0.42064	2.073000	0.62155	0.533000	0.62120	CAA	STRIP1	-	pfam_DUF3402	ENSG00000143093		0.532	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRIP1	HGNC	protein_coding	OTTHUMT00000032213.1	-	0	48	0	A	NM_033088		110590208	1	tier1	-	no_errors	ENST00000369795	ensembl	human	known	74_37	missense	20.00	39	10	SNP	1.000	T	T	110590208	A	T	110590208	3	4	105	1	0	0	0	0	1	0	0	0	5582	69	3	5	1587	5	FAM40A	1	110590208	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	6496596	110590208	138660413	10	29031											
BCL9	607	genome.wustl.edu	37	chr1	147091780	147091780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagatggtcgaaattttcctCctggccagggcattttcagc	8	12	10	11	1	1	1	1	0	0	1	4	2	3	1	3	3	1	1	3	3	1	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:147091780C>G	ENST00000234739.3	+	8	2559	c.1819C>G	c.(1819-1821)Cct>Gct	p.P607A		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	607	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAATTTTCCTCCTGGCCAGGG	0.542			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													71	78	76					1																	147091780		2203	4300	6503	SO:0001583	missense	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1819C>G	1.37:g.147091780C>G	ENSP00000234739:p.Pro607Ala		Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.P607A	ENST00000234739.3	37	c.1819	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296135	0.23650	.	.	ENSG00000116128	ENST00000234739	T	0.54071	0.59	5.41	2.44	0.29823	.	0.273022	0.41294	N	0.000920	T	0.13372	0.0324	N	0.24115	0.695	0.45216	D	0.998224	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.29181	-1.0020	10	0.02654	T	1	-0.8036	10.8236	0.46619	0.0:0.6875:0.2455:0.067	.	607;607	Q1JQ81;O00512	.;BCL9_HUMAN	A	607	ENSP00000234739:P607A	ENSP00000234739:P607A	P	+	1	0	BCL9	145558404	0.999000	0.42202	0.996000	0.52242	0.976000	0.68499	3.135000	0.50546	0.370000	0.24538	-0.258000	0.10820	CCT	BCL9	-	NULL	ENSG00000116128		0.542	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	0	109	0	C	NM_004326		147091780	1	tier1	-	no_errors	ENST00000234739	ensembl	human	known	74_37	missense	5.32	89	5	SNP	0.998	G	G	147091780	C	G	147091780	3	3	105	1	0	0	0	0	1	0	0	0	1382	855	30	5	1837	5	BCL9	1	147091780	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	36501572	147091780	102158841	11	29032											
NBPF15	284565	genome.wustl.edu	37	chr1	148579636	148579636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcaaagatctcataaaatTtatgctgaggaatgagcgac	15	10	10	6	1	1	3	1	2	1	1	2	5	1	4	0	1	3	2	0	1	5	3	rs200012164	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:148579636T>C	ENST00000369187.3	+	6	695	c.206T>C	c.(205-207)tTt>tCt	p.F69S	NBPF15_ENST00000464336.2_3'UTR|NBPF15_ENST00000442702.2_Missense_Mutation_p.F69S	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	69						cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTCATAAAATTTATGCTGAGG	0.527																																																	0													12	18	17					1																	148579636		884	2001	2885	SO:0001583	missense	0			BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"neuroblastoma breakpoint family"	28791	protein-coding gene	gene with protein product		610414, 614005	"neuroblastoma breakpoint family, member 16"	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.206T>C	1.37:g.148579636T>C	ENSP00000358188:p.Phe69Ser		Q3BBV9|Q8IX77	Missense_Mutation	SNP	pfam_NBPF_dom	p.F69S	ENST00000369187.3	37	c.206	CCDS932.1	1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.454233	0.00173	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.02050	4.48;4.48	0.566	0.566	0.17317	.	.	.	.	.	T	0.00144	0.0004	N	0.00170	-1.935	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34750	-0.9816	8	0.02654	T	1	.	.	.	.	.	69	Q8N660	NBPFF_HUMAN	S	69	ENSP00000416864:F69S;ENSP00000358188:F69S	ENSP00000358188:F69S	F	+	2	0	NBPF15	146846260	0.001000	0.12720	0.007000	0.13788	0.014000	0.08584	0.004000	0.13106	-0.220000	0.09988	-1.160000	0.01791	TTT	NBPF15	-	NULL	ENSG00000243452		0.527	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF15	HGNC	protein_coding	OTTHUMT00000038609.3	-	0	33	0	T	NM_173638		148579636	1	tier1	rs200012164	no_errors	ENST00000369187	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.009	C	C	148579636	T	C	148579636	3	2	105	1	0	0	0	0	1	0	0	0	10234	1841	64	4	212	4	NBPF15	1	148579636	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	1487856	148579636	100670985	12	29033											
POGZ	23126	genome.wustl.edu	37	chr1	151396497	151396497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccttagggaaatttgtgAgctgggctactttgccacca	9	11	11	10	1	0	1	0	1	0	0	0	3	0	2	3	2	3	2	3	2	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:151396497A>G	ENST00000271715.2	-	9	1765	c.1451T>C	c.(1450-1452)cTc>cCc	p.L484P	POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.L475P|POGZ_ENST00000531094.1_Missense_Mutation_p.L422P|POGZ_ENST00000392723.1_Missense_Mutation_p.L431P|POGZ_ENST00000361398.3_Missense_Mutation_p.L431P|POGZ_ENST00000368863.2_Missense_Mutation_p.L389P|POGZ_ENST00000491586.1_Missense_Mutation_p.L431P	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	484					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAAATTTGTGAGCTGGGCTAC	0.458																																																	0													135	127	130					1																	151396497		2203	4300	6503	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"zinc finger protein 280E", "putative protein product of Nbla00003"	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.1451T>C	1.37:g.151396497A>G	ENSP00000271715:p.Leu484Pro		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.L484P	ENST00000271715.2	37	c.1451	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	A	14.08	2.430163	0.43122	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586	T;T;T;T;T;T;T	0.01192	5.75;5.77;5.75;5.71;5.76;5.75;5.2	5.31	5.31	0.75309	.	0.112699	0.40818	N	0.001006	T	0.01695	0.0054	L	0.33339	1.005	0.80722	D	1	B;D;B;D;D;B	0.76494	0.296;0.978;0.42;0.999;0.998;0.141	B;P;B;D;D;B	0.71656	0.041;0.598;0.128;0.974;0.962;0.028	T	0.74850	-0.3524	10	0.35671	T	0.21	-16.6793	14.2352	0.65922	1.0:0.0:0.0:0.0	.	422;475;389;431;431;484	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	P	431;484;431;389;475;422;431	ENSP00000376484:L431P;ENSP00000271715:L484P;ENSP00000354467:L431P;ENSP00000357856:L389P;ENSP00000386836:L475P;ENSP00000431259:L422P;ENSP00000418408:L431P	ENSP00000271715:L484P	L	-	2	0	POGZ	149663121	0.702000	0.27816	1.000000	0.80357	0.997000	0.91878	3.010000	0.49559	2.231000	0.72958	0.460000	0.39030	CTC	POGZ	-	NULL	ENSG00000143442		0.458	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	-	0	76	0	A	NM_207171		151396497	-1	tier1	-	no_errors	ENST00000271715	ensembl	human	known	74_37	missense	23.68	58	18	SNP	0.998	G	G	151396497	A	G	151396497	3	3	105	1	0	0	0	0	1	0	0	0	12225	304	11	4	2825	4	POGZ	1	151396497	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	2816861	151396497	97854124	13	29034											
MSTO1	55154	genome.wustl.edu	37	chr1	155582929	155582929	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttggaggagccaccccAtggaccccactgtctgcatg	8	8	11	14	0	1	0	0	0	1	0	1	3	1	3	5	3	2	2	5	3	0	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:155582929A>G	ENST00000245564.2	+	11	1212	c.1188A>G	c.(1186-1188)ccA>ccG	p.P396P	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Silent_p.P361P|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	396					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GAGCCACCCCATGGACCCCAC	0.567																																																	0													67	68	68					1																	155582929		2203	4295	6498	SO:0001819	synonymous_variant	0			BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"misato homolog 1 (Drosophila)"			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.1188A>G	1.37:g.155582929A>G			Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Silent	SNP	pfam_Misato_II_tubulin-like,pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase	p.P396	ENST00000245564.2	37	c.1188	CCDS1114.1	1																																																																																			MSTO1	-	NULL	ENSG00000125459		0.567	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTO1	HGNC	protein_coding	OTTHUMT00000039408.1	-	0	66	0	A	NM_018116		155582929	1	tier1	-	no_errors	ENST00000245564	ensembl	human	known	74_37	silent	18.52	44	10	SNP	0.769	G	G	155582929	A	G	155582929	2	3	105	1	0	0	0	0	0	0	0	1	9932	204	8	4		4	MSTO1	1	155582929	Silent	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	4186432	155582929	93667692	14	29035											
SELE	6401	genome.wustl.edu	37	chr1	169696946	169696946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagttgagttgatccatGtaattcaaatccctcctcac	11	13	5	12	0	3	2	3	2	0	0	6	2	6	2	3	0	0	3	3	0	3	4	rs5368	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:169696946G>T	ENST00000333360.7	-	9	1541	c.1402C>A	c.(1402-1404)Cat>Aat	p.H468N	SELE_ENST00000367779.4_Intron|SELE_ENST00000367782.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.H343N|SELE_ENST00000367775.1_Missense_Mutation_p.H343N|SELE_ENST00000367776.1_Missense_Mutation_p.H405N|SELE_ENST00000367781.4_Missense_Mutation_p.H405N|SELE_ENST00000367774.1_Intron|SELE_ENST00000367777.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	468	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.		H -> Y (in dbSNP:rs5368). {ECO:0000269|PubMed:10391210, ECO:0000269|Ref.4}.		actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.H468Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GTTGATCCATGTAATTCAAAT	0.488																																																	1	Substitution - Missense(1)	stomach(1)	GRCh37	CM025889	SELE	M	rs5368						130	124	126					1																	169696946		2203	4300	6503	SO:0001583	missense	0			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"CD molecules"	10718	protein-coding gene	gene with protein product		131210	"endothelial adhesion molecule 1"	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1402C>A	1.37:g.169696946G>T	ENSP00000331736:p.His468Asn		A2RRD6|P16111	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.H468N	ENST00000333360.7	37	c.1402	CCDS1283.1	1	.	.	.	.	.	.	.	.	.	.	G	6.551	0.469987	0.12461	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.67	5.67	0.87782	Complement control module (2);Sushi/SCR/CCP (3);	0.564738	0.14950	N	0.288970	T	0.21186	0.0510	N	0.03304	-0.355	0.19300	N	0.99998	P	0.40731	0.728	B	0.39706	0.307	T	0.05037	-1.0910	10	0.14252	T	0.57	-2.4227	13.4055	0.60911	0.0:0.2572:0.7428:0.0	.	468	P16581	LYAM2_HUMAN	N	405;343;468;343;405	ENSP00000356755:H405N;ENSP00000356754:H343N;ENSP00000331736:H468N;ENSP00000356749:H343N;ENSP00000356750:H405N	ENSP00000331736:H468N	H	-	1	0	SELE	167963570	0.000000	0.05858	0.006000	0.13384	0.914000	0.54420	0.684000	0.25364	2.675000	0.91044	0.650000	0.86243	CAT	SELE	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000007908		0.488	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELE	HGNC	protein_coding	OTTHUMT00000084333.1		0	39	0	G	NM_000450		169696946	-1			no_errors	ENST00000333360	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.002	T	T	169696946	G	T	169696946	3	4	105	1	0	0	0	0	1	0	0	0	14058	1377	48	3	450	3	SELE	1	169696946	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	14114017	169696946	79553675	15	29036											
KIFAP3	22920	genome.wustl.edu	37	chr1	169947249	169947249	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttccttgattatgacgtctCttgtggcttggtggaaaacc	7	16	10	8	1	1	2	0	2	1	0	3	3	2	3	2	3	1	1	2	3	3	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:169947249C>G	ENST00000361580.2	-	16	2101	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	KIFAP3_ENST00000367767.1_Missense_Mutation_p.R581T|KIFAP3_ENST00000367765.1_Missense_Mutation_p.R585T|KIFAP3_ENST00000540905.1_Missense_Mutation_p.R327T|KIFAP3_ENST00000538366.1_Missense_Mutation_p.R547T	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	625					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATGACGTCTCTTGTGGCTTG	0.318																																																	0													133	131	132					1																	169947249		2203	4300	6503	SO:0001583	missense	0			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"Smg GDS"	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1874G>C	1.37:g.169947249C>G	ENSP00000354560:p.Arg625Thr		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R625T	ENST00000361580.2	37	c.1874	CCDS1288.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630708	0.87660	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	6.17	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.83118	2.625	0.80722	D	1	P	0.42078	0.77	P	0.48598	0.583	T	0.61950	-0.6957	9	.	.	.	-23.4345	15.0305	0.71701	0.0:0.932:0.0:0.068	.	625	Q92845	KIFA3_HUMAN	T	625;585;581;327;547	ENSP00000354560:R625T;ENSP00000356739:R585T;ENSP00000356741:R581T;ENSP00000442712:R327T;ENSP00000444622:R547T	.	R	-	2	0	KIFAP3	168213873	1.000000	0.71417	0.992000	0.48379	0.989000	0.77384	5.685000	0.68204	1.631000	0.50456	0.655000	0.94253	AGA	KIFAP3	-	superfamily_ARM-type_fold,pfscan_Armadillo	ENSG00000075945		0.318	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFAP3	HGNC	protein_coding	OTTHUMT00000087568.1	-	0	57	0	C	NM_014970		169947249	-1	tier1	-	no_errors	ENST00000361580	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	G	G	169947249	C	G	169947249	3	3	105	1	0	0	0	0	1	0	0	0	8338	913	32	5	524	5	KIFAP3	1	169947249	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	250303	169947249	79303372	16	29037											
GLUL	2752	genome.wustl.edu	37	chr1	182357713	182357713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgtctcaccttccaCacacttgggctcactgtcca	7	12	6	16	0	2	0	2	0	1	0	5	0	4	0	3	1	1	2	3	1	0	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:182357713C>T	ENST00000331872.6	-	2	700	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Missense_Mutation_p.V54M|GLUL_ENST00000417584.2_Missense_Mutation_p.V54M|GLUL_ENST00000339526.4_Missense_Mutation_p.V54M	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	54					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	TCACCTTCCACACACTTGGGC	0.572																																																	0													120	100	106					1																	182357713		2203	4300	6503	SO:0001583	missense	0			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"glutamine synthetase"	138290	"glutamate-ammonia ligase (glutamine synthase)"	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.160G>A	1.37:g.182357713C>T	ENSP00000356537:p.Val54Met		Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.V54M	ENST00000331872.6	37	c.160	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.399849	0.62177	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.72	-0.555	0.11807	Glutamine synthetase, beta-Grasp (2);	0.464130	0.24022	N	0.042280	T	0.53481	0.1799	M	0.85373	2.75	0.37102	D	0.899945	B	0.30033	0.266	B	0.42851	0.4	T	0.54063	-0.8349	10	0.49607	T	0.09	-6.3188	4.9284	0.13905	0.0:0.3534:0.1594:0.4872	.	54	P15104	GLNA_HUMAN	M	54	ENSP00000356537:V54M;ENSP00000307900:V54M;ENSP00000398320:V54M;ENSP00000344958:V54M	ENSP00000307900:V54M	V	-	1	0	GLUL	180624336	0.990000	0.36364	0.491000	0.27477	0.968000	0.65278	0.439000	0.21575	-0.001000	0.14495	0.650000	0.86243	GTG	GLUL	-	pfam_Gln_synt_beta,superfamily_Gln_synt_beta	ENSG00000135821		0.572	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	-	0	66	0	C	NM_002065		182357713	-1	tier1	-	no_errors	ENST00000311223	ensembl	human	known	74_37	missense	14.29	60	10	SNP	0.666	T	T	182357713	C	T	182357713	3	4	105	1	0	0	0	0	1	0	0	0	6504	478	17	3	985	3	GLUL	1	182357713	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	12410464	182357713	66892908	17	29038											
NEK7	140609	genome.wustl.edu	37	chr1	198222262	198222262	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttagtgaagtttatagAgcagcctgtctcttggatgg	10	14	11	6	0	1	2	0	1	1	1	2	3	1	3	1	2	2	2	1	2	5	6			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:198222262A>T	ENST00000367385.4	+	3	492	c.150A>T	c.(148-150)agA>agT	p.R50S	NEK7_ENST00000538004.1_Missense_Mutation_p.R50S|NEK7_ENST00000367383.1_Missense_Mutation_p.R50S	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AAGTTTATAGAGCAGCCTGTC	0.338																																																	0													61	69	66					1																	198222262		2203	4300	6503	SO:0001583	missense	0			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"NIMA (never in mitosis gene a)-related kinase 7"			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.150A>T	1.37:g.198222262A>T	ENSP00000356355:p.Arg50Ser		A6NGT8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R50S	ENST00000367385.4	37	c.150	CCDS1394.1	1	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390124	0.61956	.	.	ENSG00000151414	ENST00000367385;ENST00000538004;ENST00000367383;ENST00000544035;ENST00000391974	T;T;T;T;T	0.57752	1.0;1.0;0.52;0.38;3.08	5.34	3.04	0.35103	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048270	0.85682	D	0.000000	T	0.46367	0.1389	L	0.42008	1.315	0.58432	D	0.999999	P	0.35307	0.494	B	0.39339	0.297	T	0.42649	-0.9439	10	0.66056	D	0.02	.	9.64	0.39833	0.8592:0.0:0.1408:0.0	.	50	Q8TDX7	NEK7_HUMAN	S	50	ENSP00000356355:R50S;ENSP00000444621:R50S;ENSP00000356353:R50S;ENSP00000439095:R50S;ENSP00000375835:R50S	ENSP00000356353:R50S	R	+	3	2	NEK7	196488885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.329000	0.52060	0.484000	0.27630	0.528000	0.53228	AGA	NEK7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000151414		0.338	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK7	HGNC	protein_coding	OTTHUMT00000086550.2	-	0	54	0	A	NM_133494		198222262	1	tier1	-	no_errors	ENST00000367385	ensembl	human	known	74_37	missense	31.48	37	17	SNP	1.000	T	T	198222262	A	T	198222262	3	4	105	1	0	0	0	0	1	0	0	0	10368	301	11	5	156	5	NEK7	1	198222262	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	15864549	198222262	51028359	18	29039											
CACNA1S	779	genome.wustl.edu	37	chr1	201042678	201042678	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccacctgaggtgctcaccTtggcagtggtggggatgccc	5	8	14	14	0	1	1	1	1	0	0	1	2	1	2	5	5	2	2	5	5	0	1	rs397843806		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:201042678T>C	ENST00000362061.3	-	15	2382	c.2156A>G	c.(2155-2157)aAg>aGg	p.K719R	CACNA1S_ENST00000367338.3_Splice_Site_p.K719R	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	719					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTGCTCACCTTGGCAGTGGT	0.572																																																	0													348	339	342					1																	201042678		2203	4300	6503	SO:0001630	splice_region_variant	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2157+1A>G	1.37:g.201042678T>C			A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.K719R	ENST00000362061.3	37	c.2156	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986776	0.53934	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96334	-3.98;-3.9	4.39	4.39	0.52855	.	2.885770	0.01159	N	0.006615	D	0.95592	0.8567	L	0.57130	1.785	0.47183	D	0.999341	B	0.27594	0.182	B	0.25291	0.059	T	0.80901	-0.1175	10	0.49607	T	0.09	.	12.1691	0.54148	0.0:0.0:0.0:1.0	.	719	Q13698	CAC1S_HUMAN	R	719	ENSP00000355192:K719R;ENSP00000356307:K719R	ENSP00000355192:K719R	K	-	2	0	CACNA1S	199309301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.230000	0.78097	1.617000	0.50277	0.450000	0.29827	AAG	CACNA1S	-	prints_VDCC_L_a1ssu	ENSG00000081248		0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0	36	0	T	NM_000069	Missense_Mutation	201042678	-1	tier1	-	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	C	C	201042678	T	C	201042678	5	2	105	1	0	0	0	0	0	0	1	0	2554	1623	56	4	3585	4	CACNA1S	1	201042678	Splice_Site	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	2820416	201042678	48207943	19	29040											
RBBP5	5929	genome.wustl.edu	37	chr1	205068124	205068124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagaaatagtacctgtctgCtcaggctcactcttatcttc	9	15	6	11	0	5	1	2	0	3	1	6	1	5	1	1	1	2	3	1	1	5	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:205068124C>A	ENST00000264515.6	-	10	1230	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	RBBP5_ENST00000367164.1_Missense_Mutation_p.E363D	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	363					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TACCTGTCTGCTCAGGCTCAC	0.343																																																	0													209	197	201					1																	205068124		2203	4300	6503	SO:0001583	missense	0			BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"WD repeat domain containing"	9888	protein-coding gene	gene with protein product	"SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"	600697	"retinoblastoma-binding protein 5"			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.1089G>T	1.37:g.205068124C>A	ENSP00000264515:p.Glu363Asp		A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E363D	ENST00000264515.6	37	c.1089	CCDS30983.1	1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976771	0.34848	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60672	0.17;0.19	5.42	1.77	0.24775	.	0.100220	0.64402	D	0.000002	T	0.44371	0.1290	L	0.52126	1.63	0.52501	D	0.999959	B;B;B;B	0.17667	0.009;0.023;0.007;0.012	B;B;B;B	0.16289	0.009;0.012;0.015;0.004	T	0.18713	-1.0328	10	0.18276	T	0.48	.	7.4655	0.27320	0.0:0.4726:0.0:0.5274	.	236;398;363;363	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	D	363	ENSP00000264515:E363D;ENSP00000356132:E363D	ENSP00000264515:E363D	E	-	3	2	RBBP5	203334747	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.569000	0.23638	0.510000	0.28216	0.650000	0.86243	GAG	RBBP5	-	NULL	ENSG00000117222		0.343	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP5	HGNC	protein_coding	OTTHUMT00000090077.1	-	0	58	0	C	NM_005057		205068124	-1	tier1	-	no_errors	ENST00000264515	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A	A	205068124	C	A	205068124	3	1	105	1	0	0	0	0	1	0	0	0	13147	796	28	3	547	3	RBBP5	1	205068124	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	4025446	205068124	44182497	20	29041											
PLXNA2	5362	genome.wustl.edu	37	chr1	208391109	208391109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgtcccttggtggacggtCaagtggttgaaggtccagtc	6	10	14	11	2	1	1	1	1	0	0	4	2	3	2	3	5	0	1	3	5	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:208391109C>T	ENST00000367033.3	-	2	916	c.159G>A	c.(157-159)ttG>ttA	p.L53L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	53	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGGACGGTCAAGTGGTTGA	0.607																																																	0													95	92	93					1																	208391109		2203	4300	6503	SO:0001819	synonymous_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"Plexins"	9100	protein-coding gene	gene with protein product	"plexin 2", "plexin-A2", "semaphorin receptor OCT", "transmembrane protein OCT"	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.159G>A	1.37:g.208391109C>T			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L53	ENST00000367033.3	37	c.159	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.607	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0	58	0	C	NM_025179		208391109	-1	tier1	-	no_errors	ENST00000367033	ensembl	human	known	74_37	silent	12.24	42	6	SNP	1.000	T	T	208391109	C	T	208391109	2	4	105	1	0	0	0	0	0	0	0	1	12159	825	29	3		3	PLXNA2	1	208391109	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	3322985	208391109	40859512	21	29042											
RRP15	51018	genome.wustl.edu	37	chr1	218480940	218480940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggaagtacaaatgagaCtgcttcaagcaggaagaaac	17	6	12	6	0	1	2	1	1	0	2	1	6	1	5	0	3	4	3	0	3	6	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:218480940C>T	ENST00000366932.3	+	4	701	c.671C>T	c.(670-672)aCt>aTt	p.T224I		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	224						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)			ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		ACAAATGAGACTGCTTCAAGC	0.383																																																	0													102	99	100					1																	218480940		2203	4300	6503	SO:0001583	missense	0				CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"KIAA0507"	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.671C>T	1.37:g.218480940C>T	ENSP00000355899:p.Thr224Ile			Missense_Mutation	SNP	pfam_DUF1665	p.T224I	ENST00000366932.3	37	c.671	CCDS1520.2	1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241893	0.39598	.	.	ENSG00000067533	ENST00000366932	T	0.23147	1.92	5.63	2.1	0.27182	.	0.829043	0.11238	N	0.584973	T	0.12008	0.0292	N	0.08118	0	0.09310	N	1	B	0.33238	0.403	B	0.30495	0.116	T	0.21415	-1.0246	10	0.40728	T	0.16	.	6.997	0.24789	0.7099:0.1425:0.1476:0.0	.	224	Q9Y3B9	RRP15_HUMAN	I	224	ENSP00000355899:T224I	ENSP00000355899:T224I	T	+	2	0	RRP15	216547563	0.182000	0.23173	0.205000	0.23548	0.511000	0.34104	3.085000	0.50151	0.547000	0.28938	0.655000	0.94253	ACT	RRP15	-	NULL	ENSG00000067533		0.383	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP15	HGNC	protein_coding	OTTHUMT00000095284.1	-	0	70	0	C	NM_016052		218480940	1	tier1	-	no_errors	ENST00000366932	ensembl	human	known	74_37	missense	43.94	37	29	SNP	0.003	T	T	218480940	C	T	218480940	3	4	105	1	0	0	0	0	1	0	0	0	13732	565	20	3	685	3	RRP15	1	218480940	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	10089831	218480940	30769681	22	29043											
WDR26	80232	genome.wustl.edu	37	chr1	224581656	224581656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttactgtacgtgtgtGccctgtcagctccgcaattg	7	13	10	11	2	1	0	1	0	0	0	2	0	2	0	2	0	4	4	2	0	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:224581656G>T	ENST00000414423.2	-	13	2027	c.1834C>A	c.(1834-1836)Cac>Aac	p.H612N	WDR26_ENST00000295024.6_Missense_Mutation_p.H465N|WDR26_ENST00000366852.2_3'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	612						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTACGTGTGTGCCCTGTCAGC	0.448																																																	0													132	110	117					1																	224581656		2203	4300	6503	SO:0001583	missense	0			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"WD repeat domain containing"	21208	protein-coding gene	gene with protein product	"GID complex subunit 7 homolog (S. cerevisiae)"						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1834C>A	1.37:g.224581656G>T	ENSP00000408108:p.His612Asn		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H612N	ENST00000414423.2	37	c.1834	CCDS31037.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.328761|5.328761	0.95733|0.95733	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000480676|ENST00000414423;ENST00000295024	.|T;T	.|0.81078	.|-1.45;-1.45	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92299|0.92299	0.7557|0.7557	M|M	0.92604|0.92604	3.325|3.325	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.68039	.|0.955	D|D	0.93351|0.93351	0.6718|0.6718	5|10	.|0.87932	.|D	.|0	.|.	20.1649|20.1649	0.98147|0.98147	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|596	.|Q9H7D7-2	.|.	E|N	245|612;465	.|ENSP00000408108:H612N;ENSP00000295024:H465N	.|ENSP00000295024:H465N	A|H	-|-	2|1	0|0	WDR26|WDR26	222648279|222648279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.031000|8.031000	0.88826|0.88826	2.753000|2.753000	0.94483|0.94483	0.655000|0.655000	0.94253|0.94253	GCA|CAC	WDR26	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162923		0.448	WDR26-001	KNOWN	basic|CCDS	protein_coding	WDR26	HGNC	protein_coding	OTTHUMT00000091760.2	-	0	53	0	G	NM_025160		224581656	-1	tier1	-	no_errors	ENST00000414423	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	224581656	G	T	224581656	3	4	105	1	0	0	0	0	1	0	0	0	17332	1319	46	3	159	3	WDR26	1	224581656	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	6100716	224581656	24668965	23	29044											
KIF26B	55083	genome.wustl.edu	37	chr1	245865807	245865807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attccctggagtacctggagGcactggagtgtgtgacggag	8	9	16	8	1	0	1	0	1	0	0	1	5	1	5	2	5	1	2	2	5	1	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr1:245865807G>T	ENST00000407071.2	+	15	6666	c.6226G>T	c.(6226-6228)Gca>Tca	p.A2076S	KIF26B_ENST00000366518.4_Missense_Mutation_p.A1695S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2076					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A2076S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GTACCTGGAGGCACTGGAGTG	0.572																																																	2	Substitution - Missense(2)	lung(2)											77	81	79					1																	245865807		2074	4198	6272	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"Kinesins"	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.6226G>T	1.37:g.245865807G>T	ENSP00000385545:p.Ala2076Ser		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A2076S	ENST00000407071.2	37	c.6226	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392075	0.83011	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.88431	-2.38;-2.38	5.86	5.86	0.93980	.	.	.	.	.	D	0.94427	0.8207	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93239	0.6624	9	0.44086	T	0.13	.	20.1837	0.98210	0.0:0.0:1.0:0.0	.	2076	Q2KJY2	KI26B_HUMAN	S	2076;1695;1692	ENSP00000385545:A2076S;ENSP00000355475:A1695S	ENSP00000355475:A1695S	A	+	1	0	KIF26B	243932430	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.744000	0.85034	2.774000	0.95407	0.650000	0.86243	GCA	KIF26B	-	NULL	ENSG00000162849		0.572	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0	48	0	G	XM_371354		245865807	1			no_errors	ENST00000407071	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T	T	245865807	G	T	245865807	3	4	105	1	0	0	0	0	1	0	0	0	8322	1203	42	3	6284	3	KIF26B	1	245865807	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	21284151	245865807	3384814	24	29045											
CENPO	79172	genome.wustl.edu	37	chr2	25038427	25038427	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagtactgcttttgagggGaacctattggattcctattt	9	16	9	7	0	1	1	1	1	0	0	2	3	2	3	2	3	3	2	2	3	4	8			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:25038427G>T	ENST00000380834.2	+	5	821	c.396G>T	c.(394-396)ggG>ggT	p.G132G	CENPO_ENST00000260662.1_Silent_p.G132G|CENPO_ENST00000473706.1_Silent_p.G126G			Q9BU64	CENPO_HUMAN	centromere protein O	132					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CTTTTGAGGGGAACCTATTGG	0.488																																																	0													178	160	166					2																	25038427		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027859	CCDS1714.1, CCDS56113.1	2p23.3	2013-11-05			ENSG00000138092	ENSG00000138092			28152	protein-coding gene	gene with protein product		611504				16622420, 16622419	Standard	NM_024322		Approved	MGC11266, CENP-O	uc002rfp.2	Q9BU64	OTTHUMG00000125525	ENST00000380834.2:c.396G>T	2.37:g.25038427G>T			B2RDC0|D6W536|Q53T55|Q96JV3	Silent	SNP	pfam_CENP-O	p.G132	ENST00000380834.2	37	c.396	CCDS1714.1	2																																																																																			CENPO	-	pfam_CENP-O	ENSG00000138092		0.488	CENPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPO	HGNC	protein_coding	OTTHUMT00000246856.2	-	0	78	0	G	NM_024322		25038427	1	tier1	-	no_errors	ENST00000260662	ensembl	human	known	74_37	silent	8.79	83	8	SNP	0.972	T	T	25038427	G	T	25038427	2	4	105	1	0	0	0	0	0	0	0	1	3246	1161	41	3		3	CENPO	2	25038427	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		25038427	218160946	25	29046											
CAPN13	92291	genome.wustl.edu	37	chr2	31010080	31010080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgctgcagggaatgtctCatccttaaacgtccggccca	9	10	9	13	2	2	0	1	0	2	0	5	1	4	1	3	2	3	2	3	2	3	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:31010080C>T	ENST00000295055.8	-	2	288	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.E38K	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	38	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGGAATGTCTCATCCTTAAAC	0.542																																																	0													47	49	48					2																	31010080		1982	4162	6144	SO:0001583	missense	0				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.112G>A	2.37:g.31010080C>T	ENSP00000295055:p.Glu38Lys		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E38K	ENST00000295055.8	37	c.112	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176772	0.38413	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.87966	-2.32;-2.32	5.91	5.04	0.67666	Peptidase C2, calpain, catalytic domain (3);	0.553876	0.20352	N	0.094026	D	0.89413	0.6708	L	0.49571	1.57	0.33459	D	0.584716	D	0.63880	0.993	D	0.63113	0.911	D	0.89993	0.4109	10	0.29301	T	0.29	.	11.0793	0.48051	0.0:0.9152:0.0:0.0848	.	38	Q6MZZ7	CAN13_HUMAN	K	38	ENSP00000295055:E38K;ENSP00000431298:E38K	ENSP00000295055:E38K	E	-	1	0	CAPN13	30863584	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	2.536000	0.45693	1.517000	0.48917	-0.140000	0.14226	GAG	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	ENSG00000162949		0.542	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	-	0	42	0	C	NM_144575		31010080	-1	tier1	-	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	18.75	38	9	SNP	1.000	T	T	31010080	C	T	31010080	3	4	105	1	0	0	0	0	1	0	0	0	2633	835	29	3	1981	3	CAPN13	2	31010080	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	5971653	31010080	212189293	26	29047											
C2orf56	55471	genome.wustl.edu	37	chr2	37468805	37468805	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaaaaattaagtgagattCaagcattgacactgactaaa	18	9	7	7	0	1	3	1	3	0	1	1	4	1	3	1	0	1	1	1	0	6	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:37468805C>T	ENST00000002125.4	+	5	533	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	NDUFAF7_ENST00000336237.6_Intron|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	165					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										AAGTGAGATTCAAGCATTGAC	0.403																																																	0													96	85	89					2																	37468805		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"Mitochondrial respiratory chain complex assembly factors"	28816	protein-coding gene	gene with protein product	"mitochondrial dysfunction protein A homolog"	615898	"chromosome 2 open reading frame 56"	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.493C>T	2.37:g.37468805C>T	ENSP00000002125:p.Gln165*		Q7Z399|Q9P1G3	Nonsense_Mutation	SNP	pfam_MidA	p.Q165*	ENST00000002125.4	37	c.493	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.131772	0.94473	.	.	ENSG00000003509	ENST00000002125;ENST00000431821;ENST00000439218;ENST00000432075	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.8552	20.1346	0.98019	0.0:1.0:0.0:0.0	.	.	.	.	X	165;86;123;123	.	.	Q	+	1	0	C2orf56	37322309	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.585000	0.74062	2.765000	0.95021	0.655000	0.94253	CAA	NDUFAF7	-	pfam_MidA	ENSG00000003509		0.403	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF7	HGNC	protein_coding	OTTHUMT00000250267.1	-	0	43	0	C	NM_144736		37468805	1	tier1	-	no_errors	ENST00000002125	ensembl	human	known	74_37	nonsense	12.50	41	6	SNP	1.000	T	T	37468805	C	T	37468805	4	4	105	1	0	0	0	0	0	1	0	0	2184	827	29	3	511	3	C2orf56	2	37468805	Nonsense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	6458725	37468805	205730568	27	29048											
INO80B	83444	genome.wustl.edu	37	chr2	74683272	74683272	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctccacttcgggacctatCaggagggttagggggtcagg	7	9	15	10	1	3	0	2	0	1	0	5	2	3	2	2	6	0	1	2	6	2	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:74683272C>G	ENST00000233331.7	+	4	507	c.413C>G	c.(412-414)tCa>tGa	p.S138*	INO80B_ENST00000409917.1_Nonsense_Mutation_p.S138*|INO80B_ENST00000469849.1_3'UTR|WBP1_ENST00000393972.3_5'Flank|WBP1_ENST00000233615.2_5'Flank|WBP1_ENST00000409737.1_5'Flank	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	138					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CGGGACCTATCAGGAGGGTTA	0.517																																																	0													77	77	77					2																	74683272		2203	4300	6503	SO:0001587	stop_gained	0			AB054538	CCDS1942.2	2p13.1	2011-07-06	2008-08-07	2008-08-07	ENSG00000115274	ENSG00000115274		"Zinc fingers, HIT-type", "INO80 complex subunits"	13324	protein-coding gene	gene with protein product	"PAP-1 binding protein", "IES2 homolog (S. cerevisiae)"		"high mobility group AT-hook 1-like 4", "zinc finger, HIT type 4"	HMGA1L4, ZNHIT4		16230350	Standard	NM_031288		Approved	HMGIYL4, PAPA-1, hIes2, PAP-1BP, IES2	uc002slg.3	Q9C086	OTTHUMG00000129959	ENST00000233331.7:c.413C>G	2.37:g.74683272C>G	ENSP00000233331:p.Ser138*			Nonsense_Mutation	SNP	pfam_INO80B_C,pfam_Znf_HIT	p.S138*	ENST00000233331.7	37	c.413	CCDS1942.2	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283116	0.80803	.	.	ENSG00000115274	ENST00000233331;ENST00000409917;ENST00000409493	.	.	.	5.66	4.77	0.60923	.	0.317221	0.32301	N	0.006282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-0.9237	12.5983	0.56483	0.0:0.8335:0.1665:0.0	.	.	.	.	X	138;138;143	.	ENSP00000233331:S138X	S	+	2	0	INO80B	74536780	0.999000	0.42202	0.074000	0.20217	0.981000	0.71138	5.771000	0.68881	1.371000	0.46172	0.561000	0.74099	TCA	INO80B	-	NULL	ENSG00000115274		0.517	INO80B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80B	HGNC	protein_coding	OTTHUMT00000252223.2	-	0	84	0	C	NM_031288		74683272	1	tier1	-	no_errors	ENST00000452361	ensembl	human	known	74_37	nonsense	5.41	70	4	SNP	0.951	G	G	74683272	C	G	74683272	4	3	105	1	0	0	0	0	0	1	0	0	7774	838	29	5	427	5	INO80B	2	74683272	Nonsense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	37214467	74683272	168516101	28	29049											
SEMA4C	54910	genome.wustl.edu	37	chr2	97530540	97530540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagtagagctgccagttCggggcagagcatgccagccg	9	7	15	10	2	0	3	0	1	0	2	1	3	0	3	3	2	5	5	3	2	2	3	rs141614070		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:97530540C>T	ENST00000305476.5	-	9	996	c.864G>A	c.(862-864)ccG>ccA	p.P288P		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	288	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTGCCAGTTCGGGGCAGAGC	0.617																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	58	62	60		864	-8.6	0	2	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEMA4C	NM_017789.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		288/834	97530540	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10731	protein-coding gene	gene with protein product	"M-Sema F"	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.864G>A	2.37:g.97530540C>T			Q32MJ3|Q7Z5X0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.P288	ENST00000305476.5	37	c.864	CCDS2029.1	2																																																																																			SEMA4C	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000168758		0.617	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4C	HGNC	protein_coding	OTTHUMT00000252957.1	-	0	69	0	C	NM_017789		97530540	-1	tier1	rs141614070	no_errors	ENST00000305476	ensembl	human	known	74_37	silent	15.62	54	10	SNP	0.015	T	T	97530540	C	T	97530540	2	4	105	1	0	0	0	0	0	0	0	1	14078	871	31	1		1	SEMA4C	2	97530540	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	22847268	97530540	145668833	29	29050											
MGAT4A	11320	genome.wustl.edu	37	chr2	99342758	99342758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggaaggaagtgataaatGctaaagcagtggctacagtt	16	9	12	4	0	0	1	0	1	0	0	0	3	0	3	0	3	3	4	0	3	8	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:99342758G>A	ENST00000264968.3	-	1	401	c.38C>T	c.(37-39)gCa>gTa	p.A13V	MGAT4A_ENST00000495056.2_Missense_Mutation_p.A13V|MGAT4A_ENST00000393487.1_Missense_Mutation_p.A13V|MGAT4A_ENST00000409391.1_Missense_Mutation_p.A13V			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	13					cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGTGATAAATGCTAAAGCAGT	0.403																																																	0													124	110	115					2																	99342758		2203	4300	6503	SO:0001583	missense	0			AB000616	CCDS2036.1, CCDS54380.1	2q12	2013-02-25	2005-11-16		ENSG00000071073	ENSG00000071073	2.4.1.145	"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	7047	protein-coding gene	gene with protein product		604623	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme A"			10024668	Standard	NM_001160154		Approved	GnT-Iva, GnT-4a	uc002sze.3	Q9UM21	OTTHUMG00000130563	ENST00000264968.3:c.38C>T	2.37:g.99342758G>A	ENSP00000264968:p.Ala13Val		B4E2R6|D3DVH6|E9PEN2|Q53S97|Q86Z15	Missense_Mutation	SNP	pfam_Glyco_transf_54	p.A13V	ENST00000264968.3	37	c.38	CCDS2036.1	2	.	.	.	.	.	.	.	.	.	.	G	6.067	0.380756	0.11466	.	.	ENSG00000071073	ENST00000393487;ENST00000264968;ENST00000409391	T;T;T	0.19938	2.11;2.11;2.11	5.07	-2.55	0.06288	.	0.406531	0.26859	N	0.022122	T	0.03651	0.0104	N	0.00347	-1.61	0.23036	N	0.998396	B	0.02656	0.0	B	0.01281	0.0	T	0.41592	-0.9500	10	0.02654	T	1	-3.9485	11.6872	0.51494	0.7646:0.0:0.2354:0.0	.	13	Q9UM21	MGT4A_HUMAN	V	13	ENSP00000377127:A13V;ENSP00000264968:A13V;ENSP00000386841:A13V	ENSP00000264968:A13V	A	-	2	0	MGAT4A	98709190	1.000000	0.71417	0.902000	0.35471	0.967000	0.64934	2.346000	0.44027	-0.403000	0.07622	-0.136000	0.14681	GCA	MGAT4A	-	NULL	ENSG00000071073		0.403	MGAT4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT4A	HGNC	protein_coding	OTTHUMT00000252988.2	-	0	88	0	G	NM_012214		99342758	-1	tier1	-	no_errors	ENST00000264968	ensembl	human	known	74_37	missense	20.93	68	18	SNP	0.991	A	A	99342758	G	A	99342758	3	1	105	1	0	0	0	0	1	0	0	0	9583	1319	46	3	1731	3	MGAT4A	2	99342758	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1812218	99342758	143856615	30	29051											
LRP1B	53353	genome.wustl.edu	37	chr2	141215110	141215110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcagtgagagtctgtctgCtcccgatgttttatgggcac	8	13	11	9	1	3	1	1	1	2	1	4	3	4	1	1	1	1	3	1	1	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:141215110C>T	ENST00000389484.3	-	61	10707	c.9736G>A	c.(9736-9738)Gca>Aca	p.A3246T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3246					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCTGTCTGCTCCCGATGTT	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													229	201	211					2																	141215110		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9736G>A	2.37:g.141215110C>T	ENSP00000374135:p.Ala3246Thr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A3246T	ENST00000389484.3	37	c.9736	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447883	0.43429	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90900	-2.75	5.46	4.59	0.56863	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.482456	0.19109	N	0.122486	T	0.82185	0.4982	N	0.25485	0.75	0.32847	D	0.5061	B	0.13594	0.008	B	0.08055	0.003	T	0.76898	-0.2789	10	0.13108	T	0.6	.	10.0885	0.42432	0.1444:0.7822:0.0:0.0734	.	3246	Q9NZR2	LRP1B_HUMAN	T	3246;3184	ENSP00000374135:A3246T	ENSP00000374135:A3246T	A	-	1	0	LRP1B	140931580	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.704000	0.37857	1.298000	0.44778	-0.140000	0.14226	GCA	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	84	0	C	NM_018557		141215110	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	11.32	47	6	SNP	1.000	T	T	141215110	C	T	141215110	3	4	105	1	0	0	0	0	1	0	0	0	8990	797	28	3	4187	3	LRP1B	2	141215110	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	41872352	141215110	101984263	31	29052											
XIRP2	129446	genome.wustl.edu	37	chr2	168099825	168099825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactgtagaaaatgcagaGaaaattcctgagctagccag	16	7	10	8	0	0	3	0	1	0	2	1	5	1	3	2	0	3	3	2	0	6	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:168099825G>T	ENST00000409195.1	+	9	2012	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D	XIRP2_ENST00000409273.1_Missense_Mutation_p.E419D|XIRP2_ENST00000295237.9_Missense_Mutation_p.E641D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	466					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAATGCAGAGAAAATTCCTG	0.433																																																	0													61	63	62					2																	168099825		1914	4113	6027	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1923G>T	2.37:g.168099825G>T	ENSP00000386840:p.Glu641Asp		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.E641D	ENST00000409195.1	37	c.1923	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781906	0.31502	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02837	4.14;4.14;4.14	5.93	-0.885	0.10593	.	0.430804	0.26007	N	0.026919	T	0.02455	0.0075	L	0.32530	0.975	0.32242	N	0.57262	B;B;B	0.12013	0.005;0.002;0.004	B;B;B	0.12156	0.007;0.004;0.004	T	0.24764	-1.0151	10	0.34782	T	0.22	-6.778	9.8717	0.41177	0.204:0.5551:0.2409:0.0	.	466;466;419	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	D	641;641;419	ENSP00000386840:E641D;ENSP00000295237:E641D;ENSP00000387255:E419D	ENSP00000295237:E641D	E	+	3	2	XIRP2	167808071	0.452000	0.25713	0.998000	0.56505	0.979000	0.70002	0.451000	0.21779	0.073000	0.16731	0.655000	0.94253	GAG	XIRP2	-	NULL	ENSG00000163092		0.433	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1		0	63	0	G	NM_152381		168099825	1			no_errors	ENST00000295237	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.771	T	T	168099825	G	T	168099825	3	4	105	1	0	0	0	0	1	0	0	0	17479	933	33	3	1953	3	XIRP2	2	168099825	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	26884715	168099825	75099548	32	29053											
HOXD13	3239	genome.wustl.edu	37	chr2	176958115	176958115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggctttcccgtggagaAgtacatggacgtgtcaggcc	8	8	16	9	2	1	1	1	0	0	1	2	4	2	3	2	5	1	2	2	5	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:176958115A>G	ENST00000392539.3	+	1	497	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	166					anterior/posterior pattern specification (GO:0009952)|branch elongation of an epithelium (GO:0060602)|embryonic digit morphogenesis (GO:0042733)|embryonic hindgut morphogenesis (GO:0048619)|male genitalia development (GO:0030539)|morphogenesis of an epithelial fold (GO:0060571)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CCCGTGGAGAAGTACATGGAC	0.622			T	NUP98	AML*																																			Dom	yes		2	2q31-q32	3239	homeo box D13		L	0													50	47	48					2																	176958115		2203	4300	6503	SO:0001583	missense	0			AF005219	CCDS2264.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128714	ENSG00000128714		"Homeoboxes / ANTP class : HOXL subclass"	5136	protein-coding gene	gene with protein product		142989	"homeo box D13"	HOX4I, SPD		2574852, 1973146	Standard	NM_000523		Approved		uc002ukf.1	P35453	OTTHUMG00000132431	ENST00000392539.3:c.497A>G	2.37:g.176958115A>G	ENSP00000376322:p.Lys166Arg			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.K166R	ENST00000392539.3	37	c.497	CCDS2264.2	2	.	.	.	.	.	.	.	.	.	.	A	28.7	4.942990	0.92526	.	.	ENSG00000128714	ENST00000392539	T	0.58060	0.36	4.26	4.26	0.50523	.	0.000000	0.64402	D	0.000007	T	0.68879	0.3049	M	0.70595	2.14	0.40639	D	0.981922	D	0.89917	1.0	D	0.79108	0.992	T	0.71550	-0.4559	10	0.46703	T	0.11	.	12.4923	0.55907	1.0:0.0:0.0:0.0	.	166	P35453	HXD13_HUMAN	R	166	ENSP00000376322:K166R	ENSP00000376322:K166R	K	+	2	0	HOXD13	176666361	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.517000	0.73759	1.773000	0.52216	0.460000	0.39030	AAG	HOXD13	-	pfam_HoxA13_N	ENSG00000128714		0.622	HOXD13-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HOXD13	HGNC	protein_coding	OTTHUMT00000359256.1	-	0	103	0	A			176958115	1	tier1	-	no_errors	ENST00000392539	ensembl	human	putative	74_37	missense	7.06	79	6	SNP	1.000	G	G	176958115	A	G	176958115	3	3	105	1	0	0	0	0	1	0	0	0	7349	72	3	4	499	4	HOXD13	2	176958115	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	8858290	176958115	66241258	33	29054											
COL5A2	1290	genome.wustl.edu	37	chr2	189917478	189917478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaataaacttacaggCggaccttgggttcctcgacc	11	9	9	12	2	1	0	1	0	0	0	3	2	2	1	3	3	2	2	3	3	4	4	rs372869641		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:189917478C>T	ENST00000374866.3	-	40	2986	c.2712G>A	c.(2710-2712)ccG>ccA	p.P904P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	904					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AACTTACAGGCGGACCTTGGG	0.408													C|||	1	0.000199681	0	0	5008	,	,		18584	0.001		0	False		,,,				2504	0																0								C		1,4405	2.1+/-5.4	0,1,2202	75	77	76		2712	0	1	2		76	0,8600		0,0,4300	no	coding-synonymous	COL5A2	NM_000393.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		904/1500	189917478	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"Collagens"	2210	protein-coding gene	gene with protein product	"AB collagen"	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2712G>A	2.37:g.189917478C>T			P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P904	ENST00000374866.3	37	c.2712	CCDS33350.1	2																																																																																			COL5A2	-	NULL	ENSG00000204262		0.408	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0	40	0	C	NM_000393		189917478	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	silent	33.33	32	16	SNP	0.998	T	T	189917478	C	T	189917478	2	4	105	1	0	0	0	0	0	0	0	1	3704	755	27	1		1	COL5A2	2	189917478	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	12959363	189917478	53281895	34	29055											
TRIP12	9320	genome.wustl.edu	37	chr2	230656615	230656615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttgtccaaataccagctCtgcctagaggattgctctca	9	13	7	12	0	3	1	1	0	3	1	5	2	4	2	3	1	4	2	3	1	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:230656615C>T	ENST00000283943.5	-	28	4335	c.4157G>A	c.(4156-4158)aGa>aAa	p.R1386K	TRIP12_ENST00000389044.4_Missense_Mutation_p.R1434K|TRIP12_ENST00000389045.3_Missense_Mutation_p.R1116K	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1386					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AATACCAGCTCTGCCTAGAGG	0.378																																																	0													191	186	188					2																	230656615		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4157G>A	2.37:g.230656615C>T	ENSP00000283943:p.Arg1386Lys		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.R1386K	ENST00000283943.5	37	c.4157	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781994	0.70222	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.42131	0.98;1.32;0.98	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.54367	0.1854	L	0.39898	1.24	0.80722	D	1	P;P;P	0.44690	0.841;0.826;0.841	P;P;P	0.57204	0.815;0.487;0.815	T	0.40459	-0.9562	10	0.36615	T	0.2	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	1116;1434;1386	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	K	1386;1116;1434	ENSP00000283943:R1386K;ENSP00000373697:R1116K;ENSP00000373696:R1434K	ENSP00000283943:R1386K	R	-	2	0	TRIP12	230364859	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.446000	0.80609	2.712000	0.92718	0.585000	0.79938	AGA	TRIP12	-	NULL	ENSG00000153827		0.378	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0	51	0	C	NM_004238		230656615	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	missense	9.76	36	4	SNP	1.000	T	T	230656615	C	T	230656615	3	4	105	1	0	0	0	0	1	0	0	0	16604	913	32	3	1877	3	TRIP12	2	230656615	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	40739137	230656615	12542758	35	29056											
ECEL1	9427	genome.wustl.edu	37	chr2	233347866	233347866	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaagtccgggtagccGaccatcaccatcatgtactg	11	7	11	12	2	2	0	2	0	0	0	3	2	3	1	4	2	3	3	4	2	3	2	rs182355168	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:233347866G>T	ENST00000304546.1	-	9	1740	c.1530C>A	c.(1528-1530)gtC>gtA	p.V510V	ECEL1_ENST00000409941.1_Silent_p.V510V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	510					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCGGGTAGCCGACCATCACCA	0.652																																																	0													48	32	38					2																	233347866		2203	4299	6502	SO:0001819	synonymous_variant	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"damage induced neuronal endopeptidase"	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1530C>A	2.37:g.233347866G>T			Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V510	ENST00000304546.1	37	c.1530	CCDS2493.1	2																																																																																			ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.652	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0	84	0	G	NM_004826		233347866	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	silent	6.56	57	4	SNP	0.037	T	T	233347866	G	T	233347866	2	4	105	1	0	0	0	0	0	0	0	1	4905	1045	37	2		2	ECEL1	2	233347866	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	2691251	233347866	9851507	36	29057											
UGT1A6	54578	genome.wustl.edu	37	chr2	234602073	234602073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctgaacttctttaaggaGagcaagtttgatgctctttt	10	15	8	8	0	2	3	0	2	2	1	2	4	2	3	1	1	3	3	1	1	3	6			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:234602073G>C	ENST00000305139.6	+	1	562	c.423G>C	c.(421-423)gaG>gaC	p.E141D	UGT1A6_ENST00000373424.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	141					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TCTTTAAGGAGAGCAAGTTTG	0.493																																																	0													113	93	99					2																	234602073		2203	4300	6503	SO:0001583	missense	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"UDP glucuronosyltransferases"	12538	other	complex locus constituent		606431	"UDP glycosyltransferase 1 family, polypeptide A6"			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.423G>C	2.37:g.234602073G>C	ENSP00000303174:p.Glu141Asp		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E141D	ENST00000305139.6	37	c.423	CCDS2507.1	2	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252061	0.22880	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.06849	3.25;3.25	5.31	2.37	0.29283	.	.	.	.	.	T	0.08403	0.0209	L	0.42008	1.315	0.09310	N	1	B;B	0.21147	0.052;0.005	B;B	0.25291	0.059;0.03	T	0.31779	-0.9931	9	0.33141	T	0.24	.	8.2316	0.31601	0.3781:0.0:0.6219:0.0	.	141;141	B8K289;P19224	.;UD16_HUMAN	D	141	ENSP00000389637:E141D;ENSP00000303174:E141D	ENSP00000303174:E141D	E	+	3	2	UGT1A6	234266812	0.000000	0.05858	0.019000	0.16419	0.775000	0.43874	-0.188000	0.09642	0.824000	0.34613	-0.136000	0.14681	GAG	UGT1A6	-	pfam_UDP_glucos_trans	ENSG00000167165		0.493	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A6	HGNC	protein_coding	OTTHUMT00000130988.1	-	0	66	0	G	NM_205862		234602073	1	tier1	-	no_errors	ENST00000305139	ensembl	human	known	74_37	missense	27.08	35	13	SNP	0.000	C	C	234602073	G	C	234602073	3	2	105	1	0	0	0	0	1	0	0	0	16998	933	33	5	425	5	UGT1A6	2	234602073	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1254207	234602073	8597300	37	29058											
AQP12A	375318	genome.wustl.edu	37	chr2	241631539	241631539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctggggactttgggcctGacctgctgctcaccctgctc	3	10	14	14	0	1	1	1	1	0	0	2	2	1	2	3	4	3	4	3	4	0	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr2:241631539G>A	ENST00000337801.4	+	2	241	c.172G>A	c.(172-174)Gac>Aac	p.D58N	AQP12A_ENST00000429564.1_Missense_Mutation_p.D70N|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	58						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTTTGGGCCTGACCTGCTGCT	0.692																																																	0													25	37	33					2																	241631539		2162	4266	6428	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"Ion channels / Aquaporins"	19941	protein-coding gene	gene with protein product		609789	"aquaporin 12"	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.172G>A	2.37:g.241631539G>A	ENSP00000337144:p.Asp58Asn			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.D70N	ENST00000337801.4	37	c.208		2	.	.	.	.	.	.	.	.	.	.	.	14.64	2.595329	0.46318	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.62105	0.05;0.05	2.43	2.43	0.29744	Aquaporin-like (1);	0.113396	0.64402	D	0.000015	T	0.73171	0.3553	M	0.72118	2.19	0.41798	D	0.989901	D	0.89917	1.0	D	0.97110	1.0	T	0.71059	-0.4702	10	0.25751	T	0.34	-10.7472	10.6008	0.45365	0.0:0.0:1.0:0.0	.	58	Q8IXF9	AQ12A_HUMAN	N	58;70;43	ENSP00000337144:D58N;ENSP00000405899:D70N	ENSP00000337144:D58N	D	+	1	0	AQP12A	241280212	1.000000	0.71417	0.805000	0.32314	0.231000	0.25187	7.483000	0.81158	1.382000	0.46385	0.186000	0.17326	GAC	AQP12A	-	superfamily_Aquaporin-like,pirsf_Aquaporin_11/12	ENSG00000184945		0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2		0	68	0	G	NM_198998		241631539	1			no_errors	ENST00000429564	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.991	A	A	241631539	G	A	241631539	3	1	105	1	0	0	0	0	1	0	0	0	824	1290	45	3	178	3	AQP12A	2	241631539	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	7029466	241631539	1567834	38	29059											
CNTN6	27255	genome.wustl.edu	37	chr3	1363426	1363426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctatccttgaaatccCgaacttccaacaagaagatg	15	8	6	12	1	0	3	0	1	0	2	3	4	3	3	4	0	3	1	4	0	7	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:1363426C>A	ENST00000446702.2	+	8	1481	c.854C>A	c.(853-855)cCg>cAg	p.P285Q	CNTN6_ENST00000539053.1_Missense_Mutation_p.P213Q|CNTN6_ENST00000350110.2_Missense_Mutation_p.P285Q			Q9UQ52	CNTN6_HUMAN	contactin 6	285	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTTGAAATCCCGAACTTCCAA	0.458																																																	0													127	130	129					3																	1363426		2203	4299	6502	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.854C>A	3.37:g.1363426C>A	ENSP00000407822:p.Pro285Gln		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.P285Q	ENST00000446702.2	37	c.854	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.473808	0.84640	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.64618	-0.11;-0.11;-0.11	5.9	5.03	0.67393	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.100000	0.44902	D	0.000411	T	0.66076	0.2753	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.62369	-0.6869	10	0.22109	T	0.4	.	13.1186	0.59313	0.0:0.9268:0.0:0.0732	.	285	Q9UQ52	CNTN6_HUMAN	Q	285;213;285	ENSP00000407822:P285Q;ENSP00000442791:P213Q;ENSP00000341882:P285Q	ENSP00000341882:P285Q	P	+	2	0	CNTN6	1338426	0.999000	0.42202	0.998000	0.56505	0.982000	0.71751	4.276000	0.58933	1.499000	0.48617	0.650000	0.86243	CCG	CNTN6	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134115		0.458	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2		0	30	0	C	NM_014461		1363426	1			no_errors	ENST00000350110	ensembl	human	known	74_37	missense	10.71	25	3	SNP	0.998	A	A	1363426	C	A	1363426	3	1	105	1	0	0	0	0	1	0	0	0	3652	652	23	2	880	2	CNTN6	3	1363426	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		1363426	196659004	39	29060											
NKIRAS1	28512	genome.wustl.edu	37	chr3	23942371	23942371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaggattcaaggttattCacactgtacacaagaacgaa	17	9	8	7	1	2	2	2	1	0	1	2	4	2	3	0	2	2	2	0	2	7	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:23942371C>T	ENST00000443659.2	-	3	1041	c.264G>A	c.(262-264)gtG>gtA	p.V88V	NKIRAS1_ENST00000415901.2_Silent_p.V88V|NKIRAS1_ENST00000437230.1_Silent_p.V88V|NKIRAS1_ENST00000388759.3_Silent_p.V88V|NKIRAS1_ENST00000412028.1_Silent_p.V88V|NKIRAS1_ENST00000421515.2_Silent_p.V88V|NKIRAS1_ENST00000425478.2_Silent_p.V88V|NKIRAS1_ENST00000416026.2_Silent_p.V88V			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	88	Interactions with NFKBIA and NFKBIB.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						CAAGGTTATTCACACTGTACA	0.383																																																	0													123	117	119					3																	23942371		2203	4300	6503	SO:0001819	synonymous_variant	0			AF229839	CCDS33717.1	3p24.1	2014-05-09	2004-05-20		ENSG00000197885	ENSG00000197885			17899	protein-coding gene	gene with protein product		604496	"NFKB inhibitor interacting Ras-like protein 1"			10657303	Standard	NM_020345		Approved	KBRAS1, kappaB-Ras1	uc003ccj.3	Q9NYS0	OTTHUMG00000155605	ENST00000443659.2:c.264G>A	3.37:g.23942371C>T			Q96K18	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V88	ENST00000443659.2	37	c.264	CCDS33717.1	3																																																																																			NKIRAS1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom	ENSG00000197885		0.383	NKIRAS1-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NKIRAS1	HGNC	protein_coding	OTTHUMT00000340876.2	-	0	54	0	C	NM_020345		23942371	-1	tier1	-	no_errors	ENST00000388759	ensembl	human	known	74_37	silent	10.17	53	6	SNP	1.000	T	T	23942371	C	T	23942371	2	4	105	1	0	0	0	0	0	0	0	1	10483	813	29	3		3	NKIRAS1	3	23942371	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	22578945	23942371	174080059	40	29061											
TRANK1	9881	genome.wustl.edu	37	chr3	36900302	36900302	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgcgcccttggtcaagaGaaggaaagccaactcgaagt	12	7	12	10	2	2	1	1	0	1	1	3	4	2	2	2	2	3	0	2	2	5	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:36900302G>C	ENST00000429976.2	-	11	1694	c.1447C>G	c.(1447-1449)Ctc>Gtc	p.L483V	TRANK1_ENST00000428977.2_5'UTR|TRANK1_ENST00000301807.6_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	483							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGGTCAAGAGAAGGAAAGCC	0.527																																																	0													96	87	90					3																	36900302		692	1591	2283	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	29011	protein-coding gene	gene with protein product	"lupus brain antigen 1", "KIAA0342"					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1447C>G	3.37:g.36900302G>C	ENSP00000416168:p.Leu483Val		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L483V	ENST00000429976.2	37	c.1447	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399167	0.62177	.	.	ENSG00000168016	ENST00000429976	T	0.80480	-1.38	4.68	3.77	0.43336	.	.	.	.	.	D	0.88779	0.6529	M	0.90870	3.155	0.80722	D	1	.	.	.	.	.	.	D	0.89415	0.3706	7	0.87932	D	0	.	8.6641	0.34110	0.0803:0.1539:0.7658:0.0	.	.	.	.	V	483	ENSP00000416168:L483V	ENSP00000416168:L483V	L	-	1	0	TRANK1	36875306	1.000000	0.71417	0.975000	0.42487	0.889000	0.51656	3.239000	0.51360	1.279000	0.44446	0.563000	0.77884	CTC	TRANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000168016		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		-	0	46	0	G	NM_014831		36900302	-1	tier1	-	no_errors	ENST00000429976	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.984	C	C	36900302	G	C	36900302	3	2	105	1	0	0	0	0	1	0	0	0	16502	942	33	5	7382	5	TRANK1	3	36900302	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	12957931	36900302	161122128	41	29062											
PARP9	83666	genome.wustl.edu	37	chr3	122255181	122255181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaggacctcattgtctatCttctccacctagaaccatag	12	12	5	12	0	4	1	1	0	3	1	5	2	4	2	4	1	1	0	4	1	5	6			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:122255181C>T	ENST00000360356.2	-	10	2246	c.2019G>A	c.(2017-2019)aaG>aaA	p.K673K	PARP9_ENST00000492382.1_Silent_p.K218K|PARP9_ENST00000477522.2_Silent_p.K638K|PARP9_ENST00000471785.1_Silent_p.K638K|PARP9_ENST00000462315.1_Silent_p.K638K	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	673	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CATTGTCTATCTTCTCCACCT	0.408																																																	0													102	93	96					3																	122255181		2203	4300	6503	SO:0001819	synonymous_variant	0			AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"Poly (ADP-ribose) polymerases"	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2019G>A	3.37:g.122255181C>T			A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K673	ENST00000360356.2	37	c.2019	CCDS3014.1	3																																																																																			PARP9	-	pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000138496		0.408	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARP9	HGNC	protein_coding	OTTHUMT00000355957.1	-	0	70	0	C	NM_031458		122255181	-1	tier1	-	no_errors	ENST00000360356	ensembl	human	known	74_37	silent	7.79	71	6	SNP	0.000	T	T	122255181	C	T	122255181	2	4	105	1	0	0	0	0	0	0	0	1	11505	912	32	3		3	PARP9	3	122255181	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	85354879	122255181	75767249	42	29063											
ACAD11	84129	genome.wustl.edu	37	chr3	132277827	132277827	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctccttatatcttggcTgtcagtcttttggcttggtc	4	17	8	12	0	3	0	1	0	2	0	5	0	4	0	2	3	0	2	2	3	2	6			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:132277827T>C	ENST00000264990.6	-	20	3302	c.2331A>G	c.(2329-2331)acA>acG	p.T777T	ACAD11_ENST00000545291.1_Silent_p.T302T|ACAD11_ENST00000355458.3_Silent_p.T673T	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	777					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ATATCTTGGCTGTCAGTCTTT	0.448																																																	0													126	112	117					3																	132277827		2203	4299	6502	SO:0001819	synonymous_variant	0			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"acyl-Coenzyme A dehydrogenase family, member 11"				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.2331A>G	3.37:g.132277827T>C			Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.T777	ENST00000264990.6	37	c.2331	CCDS3074.1	3																																																																																			ACAD11	-	NULL	ENSG00000240303		0.448	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	-	0	91	0	T	NM_032169		132277827	-1	tier1	-	no_errors	ENST00000264990	ensembl	human	known	74_37	silent	17.65	70	15	SNP	0.231	C	C	132277827	T	C	132277827	2	2	105	1	0	0	0	0	0	0	0	1	109	1567	55	4		4	ACAD11	3	132277827	Silent	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	10022646	132277827	65744603	43	29064											
CLCN2	1181	genome.wustl.edu	37	chr3	184075806	184075806	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcagcccaatgaccttagCtataaaggtcttgagtgtga	11	11	11	8	0	2	3	1	3	1	0	2	3	2	3	2	2	2	1	2	2	5	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:184075806C>G	ENST00000265593.4	-	5	730	c.559G>C	c.(559-561)Gct>Cct	p.A187P	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.A143P|CLCN2_ENST00000344937.7_Missense_Mutation_p.A187P|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.A187P	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	187					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ATGACCTTAGCTATAAAGGTC	0.557																																																	0													81	77	78					3																	184075806		2203	4300	6503	SO:0001583	missense	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"Ion channels / Chloride channels : Voltage-sensitive"	2020	protein-coding gene	gene with protein product		600570	"chloride channel 2"			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.559G>C	3.37:g.184075806C>G	ENSP00000265593:p.Ala187Pro		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.A187P	ENST00000265593.4	37	c.559	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	24.6	4.544938	0.86022	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	4.45	4.45	0.53987	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	M	0.94063	3.49	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.995;0.977;0.999	D	0.99246	1.0886	10	0.87932	D	0	-11.8071	16.8755	0.86051	0.0:1.0:0.0:0.0	.	187;143;187;187;187	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	P	187;187;143;187	ENSP00000265593:A187P;ENSP00000345056:A187P;ENSP00000400425:A143P;ENSP00000391928:A187P	ENSP00000265593:A187P	A	-	1	0	CLCN2	185558500	1.000000	0.71417	0.943000	0.38184	0.848000	0.48234	7.638000	0.83328	2.308000	0.77769	0.462000	0.41574	GCT	CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.557	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	-	0	34	0	C			184075806	-1	tier1	-	no_errors	ENST00000265593	ensembl	human	known	74_37	missense	52.63	9	10	SNP	1.000	G	G	184075806	C	G	184075806	3	3	105	1	0	0	0	0	1	0	0	0	3470	797	28	5	2217	5	CLCN2	3	184075806	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	51797979	184075806	13946624	44	29065											
TCTEX1D2	255758	genome.wustl.edu	37	chr3	196044938	196044938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaacaggccgcagaataTaggtgttctcgggctcccct	10	8	12	11	2	1	1	0	0	1	1	3	2	2	2	3	4	1	3	3	4	5	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr3:196044938T>C	ENST00000325318.5	-	1	221	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_Intron|TM4SF19-AS1_ENST00000452051.1_RNA|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.Y29C|TM4SF19-AS1_ENST00000444939.1_RNA	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	29										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCGCAGAATATAGGTGTTCTC	0.677																																																	0													45	42	43					3																	196044938		2203	4300	6503	SO:0001583	missense	0			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.86A>G	3.37:g.196044938T>C	ENSP00000324323:p.Tyr29Cys		A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.Y29C	ENST00000325318.5	37	c.86	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622838	0.46840	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.41065	1.01	4.84	3.68	0.42216	.	0.000000	0.50627	U	0.000104	T	0.49304	0.1549	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48625	-0.9019	10	0.87932	D	0	-7.889	7.1169	0.25421	0.0:0.1012:0.0:0.8988	.	29	Q8WW35	TC1D2_HUMAN	C	29	ENSP00000324323:Y29C	ENSP00000324323:Y29C	Y	-	2	0	TCTEX1D2	197529335	1.000000	0.71417	0.989000	0.46669	0.021000	0.10359	3.588000	0.53964	0.866000	0.35629	-0.379000	0.06801	TAT	TCTEX1D2	-	NULL	ENSG00000213123		0.677	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	-	0	60	0	T	NM_152773		196044938	-1	tier1	-	no_errors	ENST00000325318	ensembl	human	known	74_37	missense	14.75	52	9	SNP	0.992	C	C	196044938	T	C	196044938	3	2	105	1	0	0	0	0	1	0	0	0	15767	1406	49	4	362	4	TCTEX1D2	3	196044938	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	11969132	196044938	1977492	45	29066											
KCTD8	386617	genome.wustl.edu	37	chr4	44176944	44176944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttagcttctcacagacttTctttttggacagatttgttt	8	19	6	8	0	2	2	1	0	2	2	3	3	2	3	0	1	1	2	0	1	1	7			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:44176944T>C	ENST00000360029.3	-	2	1568	c.1285A>G	c.(1285-1287)Aaa>Gaa	p.K429E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	429					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TCACAGACTTTCTTTTTGGAC	0.418										HNSCC(17;0.042)																																							0													199	208	205					4																	44176944		2203	4300	6503	SO:0001583	missense	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 8"				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1285A>G	4.37:g.44176944T>C	ENSP00000353129:p.Lys429Glu		A2RU39	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.K429E	ENST00000360029.3	37	c.1285	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	T	18.62	3.662571	0.67700	.	.	ENSG00000183783	ENST00000360029	T	0.40225	1.04	4.76	4.76	0.60689	.	0.355834	0.23402	N	0.048573	T	0.47173	0.1431	L	0.29908	0.895	0.40035	D	0.975571	D	0.67145	0.996	P	0.58013	0.831	T	0.52132	-0.8616	10	0.72032	D	0.01	.	13.8906	0.63736	0.0:0.0:0.0:1.0	.	429	Q6ZWB6	KCTD8_HUMAN	E	429	ENSP00000353129:K429E	ENSP00000353129:K429E	K	-	1	0	KCTD8	43871701	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.561000	0.45905	2.119000	0.64992	0.528000	0.53228	AAA	KCTD8	-	NULL	ENSG00000183783		0.418	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0	99	0	T			44176944	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	missense	6.82	82	6	SNP	1.000	C	C	44176944	T	C	44176944	3	2	105	1	0	0	0	0	1	0	0	0	8142	1792	62	4	140	4	KCTD8	4	44176944	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09		44176944	146977332	46	29067											
CEP135	9662	genome.wustl.edu	37	chr4	56837473	56837473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaaaaggagagactgaGtgatgaactccttgtaaaat	18	8	11	4	0	0	5	0	3	0	2	1	8	1	6	1	1	1	1	1	1	6	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:56837473G>C	ENST00000257287.4	+	10	1272	c.1148G>C	c.(1147-1149)aGt>aCt	p.S383T		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	383					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGAGACTGAGTGATGAACTC	0.308																																																	0													52	53	52					4																	56837473		2203	4300	6503	SO:0001583	missense	0			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"KIAA0635", "centrosomal protein 4"	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1148G>C	4.37:g.56837473G>C	ENSP00000257287:p.Ser383Thr		B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_EB1_C	p.S383T	ENST00000257287.4	37	c.1148	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	G	7.339	0.620491	0.14193	.	.	ENSG00000174799	ENST00000257287	T	0.42513	0.97	5.95	-5.45	0.02616	.	0.796593	0.12407	N	0.471659	T	0.21468	0.0517	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28744	-1.0034	10	0.15066	T	0.55	.	12.8891	0.58061	0.6449:0.126:0.2291:0.0	.	383	Q66GS9	CP135_HUMAN	T	383	ENSP00000257287:S383T	ENSP00000257287:S383T	S	+	2	0	CEP135	56532230	0.129000	0.22400	0.695000	0.30226	0.972000	0.66771	-0.419000	0.07071	-1.124000	0.02936	0.491000	0.48974	AGT	CEP135	-	NULL	ENSG00000174799		0.308	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	-	0	47	0	G	NM_025009		56837473	1	tier1	-	no_errors	ENST00000257287	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.202	C	C	56837473	G	C	56837473	3	2	105	1	0	0	0	0	1	0	0	0	3254	1029	36	5	1182	5	CEP135	4	56837473	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	12660529	56837473	134316803	47	29068											
TECRL	253017	genome.wustl.edu	37	chr4	65180404	65180404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttctagcactctctttTccatcatatatacatgggat	11	16	4	10	0	4	0	1	0	3	0	6	1	5	1	1	1	2	1	1	1	5	7			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:65180404T>C	ENST00000381210.3	-	5	623	c.513A>G	c.(511-513)ggA>ggG	p.G171G	TECRL_ENST00000507440.1_Silent_p.G171G|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	171					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CACTCTCTTTTCCATCATATA	0.408																																																	0													115	109	111					4																	65180404		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"glycoprotein, synaptic 2-like"					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.513A>G	4.37:g.65180404T>C				Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.G171	ENST00000381210.3	37	c.513	CCDS33990.1	4																																																																																			TECRL	-	NULL	ENSG00000205678		0.408	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0	30	0	T	NM_001010874		65180404	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.005	C	C	65180404	T	C	65180404	2	2	105	1	0	0	0	0	0	0	0	1	15793	1770	62	4		4	TECRL	4	65180404	Silent	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	8342931	65180404	125973872	48	29069											
ARSJ	79642	genome.wustl.edu	37	chr4	114823722	114823722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagataggtccaccctctcaTatgggtcggctgtgatgttg	7	13	12	9	1	1	2	1	1	1	1	4	2	2	2	2	3	0	2	2	3	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:114823722T>C	ENST00000315366.7	-	2	2374	c.1508A>G	c.(1507-1509)tAt>tGt	p.Y503C	ARSJ_ENST00000541197.1_Missense_Mutation_p.Y503C	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	503					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CACCCTCTCATATGGGTCGGC	0.512																																																	0													75	72	73					4																	114823722		1925	4131	6056	SO:0001583	missense	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"Arylsulfatase family"	26286	protein-coding gene	gene with protein product		610010	"arylsulfatase J"			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1508A>G	4.37:g.114823722T>C	ENSP00000320219:p.Tyr503Cys		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.Y503C	ENST00000315366.7	37	c.1508	CCDS43264.1	4	.	.	.	.	.	.	.	.	.	.	T	11.36	1.614655	0.28712	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	D;D	0.97279	-4.32;-4.32	5.41	5.41	0.78517	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.744770	0.03517	N	0.220464	D	0.96433	0.8836	L	0.39020	1.185	0.44985	D	0.998007	B;B	0.32051	0.354;0.126	B;B	0.40565	0.333;0.143	T	0.81050	-0.1108	10	0.33940	T	0.23	.	15.4584	0.75333	0.0:0.0:0.0:1.0	.	503;503	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	C	503;503;72	ENSP00000320219:Y503C;ENSP00000438836:Y503C	ENSP00000320219:Y503C	Y	-	2	0	ARSJ	115043171	1.000000	0.71417	0.218000	0.23776	0.974000	0.67602	3.915000	0.56409	2.058000	0.61347	0.533000	0.62120	TAT	ARSJ	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000180801		0.512	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1	-	0	56	0	T	NM_024590		114823722	-1	tier1	-	no_errors	ENST00000315366	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.994	C	C	114823722	T	C	114823722	3	2	105	1	0	0	0	0	1	0	0	0	996	1406	49	4	295	4	ARSJ	4	114823722	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	49643318	114823722	76330554	49	29070											
DCHS2	54798	genome.wustl.edu	37	chr4	155226327	155226327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccagtgtcagaatttatctCgaataattcaaatgaagcac	15	12	6	8	1	3	2	2	1	1	1	5	3	4	2	1	0	1	1	1	0	6	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:155226327C>G	ENST00000357232.4	-	16	3951	c.3952G>C	c.(3952-3954)Gag>Cag	p.E1318Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1318	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATTTATCTCGAATAATTCA	0.368																																																	0													43	44	44					4																	155226327		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3952G>C	4.37:g.155226327C>G	ENSP00000349768:p.Glu1318Gln		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1318Q	ENST00000357232.4	37	c.3952	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	c	0.076	-1.193168	0.01607	.	.	ENSG00000197410	ENST00000357232	T	0.53206	0.63	6.03	-8.94	0.00768	Cadherin (4);Cadherin-like (1);	1.153500	0.06271	N	0.695581	T	0.27313	0.0670	N	0.20807	0.61	0.34526	D	0.70871	B	0.06786	0.001	B	0.15870	0.014	T	0.21484	-1.0244	10	0.13108	T	0.6	.	13.495	0.61421	0.0:0.0878:0.4526:0.4597	.	1318	Q6V1P9	PCD23_HUMAN	Q	1318	ENSP00000349768:E1318Q	ENSP00000349768:E1318Q	E	-	1	0	DCHS2	155445777	0.022000	0.18835	0.002000	0.10522	0.013000	0.08279	-0.768000	0.04715	-1.572000	0.01661	-1.832000	0.00591	GAG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.368	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	30	0	C	NM_001142552		155226327	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	16.22	31	6	SNP	0.038	G	G	155226327	C	G	155226327	3	3	105	1	0	0	0	0	1	0	0	0	4297	893	31	5	4838	5	DCHS2	4	155226327	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	40402605	155226327	35927949	50	29071											
DCHS2	54798	genome.wustl.edu	37	chr4	155298454	155298454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagctggatccctttccCtgtcgatatcttgagaaaca	10	12	9	10	1	1	1	0	1	1	1	4	4	3	2	2	2	2	2	2	2	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:155298454C>T	ENST00000357232.4	-	3	376	c.377G>A	c.(376-378)aGg>aAg	p.R126K	DCHS2_ENST00000339452.1_Missense_Mutation_p.R732K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCCTTTCCCTGTCGATATC	0.423																																																	0													139	127	131					4																	155298454		2203	4300	6503	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.377G>A	4.37:g.155298454C>T	ENSP00000349768:p.Arg126Lys		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R126K	ENST00000357232.4	37	c.377	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706243	0.68615	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.59224	0.28;0.28	5.64	4.8	0.61643	Cadherin (5);Cadherin-like (1);	0.160729	0.42294	N	0.000725	T	0.68632	0.3022	M	0.88310	2.945	0.80722	D	1	P;B	0.38827	0.649;0.37	P;B	0.46452	0.517;0.114	T	0.69143	-0.5223	10	0.33940	T	0.23	.	10.2373	0.43290	0.0:0.8478:0.0:0.1522	.	732;126	E9PC11;Q6V1P9	.;PCD23_HUMAN	K	126;732;732	ENSP00000349768:R126K;ENSP00000345062:R732K	ENSP00000345062:R732K	R	-	2	0	DCHS2	155517904	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	2.732000	0.47352	1.392000	0.46585	0.561000	0.74099	AGG	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000197410		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	-	0	53	0	C	NM_001142552		155298454	-1	tier1	-	no_errors	ENST00000357232	ensembl	human	known	74_37	missense	12.50	42	6	SNP	1.000	T	T	155298454	C	T	155298454	3	4	105	1	0	0	0	0	1	0	0	0	4297	681	24	3	8561	3	DCHS2	4	155298454	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	72127	155298454	35855822	51	29072											
NPY1R	4886	genome.wustl.edu	37	chr4	164247644	164247644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagccagaagctgggcattCttctctgagaaattagagtg	13	10	11	7	0	2	3	0	1	2	3	3	4	2	3	1	1	2	2	1	1	4	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:164247644C>T	ENST00000296533.2	-	2	594	c.63G>A	c.(61-63)aaG>aaA	p.K21K	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	21					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCTGGGCATTCTTCTCTGAGA	0.363																																																	0													94	92	93					4																	164247644		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"GPCR / Class A : Neuropeptide receptors : Y"	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.63G>A	4.37:g.164247644C>T			B2R6H5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.K21	ENST00000296533.2	37	c.63	CCDS34089.1	4																																																																																			NPY1R	-	NULL	ENSG00000164128		0.363	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY1R	HGNC	protein_coding	OTTHUMT00000364685.1	-	0	39	0	C			164247644	-1	tier1	-	no_errors	ENST00000296533	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.000	T	T	164247644	C	T	164247644	2	4	105	1	0	0	0	0	0	0	0	1	10647	912	32	3		3	NPY1R	4	164247644	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	8949190	164247644	26906632	52	29073											
FAM149A	25854	genome.wustl.edu	37	chr4	187075717	187075717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgctgacctaacggcacGttcatccctggaagaagagg	10	8	13	10	2	1	3	1	1	0	2	2	4	2	4	2	4	2	4	2	4	3	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:187075717G>T	ENST00000356371.5	+	6	1181	c.1181G>T	c.(1180-1182)cGt>cTt	p.R394L	FAM149A_ENST00000514153.1_Missense_Mutation_p.R103L|FAM149A_ENST00000227065.4_Missense_Mutation_p.R103L|FAM149A_ENST00000503432.1_Missense_Mutation_p.R103L|FAM149A_ENST00000389354.5_Missense_Mutation_p.R103L|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000502970.1_Missense_Mutation_p.R103L			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	394										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTAACGGCACGTTCATCCCTG	0.473																																																	0													103	97	99					4																	187075717		2203	4300	6503	SO:0001583	missense	0			AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1181G>T	4.37:g.187075717G>T	ENSP00000348732:p.Arg394Leu		B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	pfam_DUF3719	p.R394L	ENST00000356371.5	37	c.1181		4	.	.	.	.	.	.	.	.	.	.	G	4.335	0.061594	0.08339	.	.	ENSG00000109794	ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84	4.75	0.791	0.18619	.	1.615380	0.03223	N	0.177853	T	0.05410	0.0143	N	0.08118	0	0.09310	N	1	B;B;B	0.17038	0.02;0.002;0.001	B;B;B	0.20184	0.028;0.003;0.001	T	0.35251	-0.9796	10	0.11485	T	0.65	0.2474	3.7978	0.08746	0.4802:0.0:0.3483:0.1715	.	394;394;103	A5PLN7-3;A5PLN7;B4DHZ9	.;F149A_HUMAN;.	L	103;394;103;103;103;103	ENSP00000426835:R103L;ENSP00000348732:R394L;ENSP00000227065:R103L;ENSP00000427155:R103L;ENSP00000424380:R103L;ENSP00000374005:R103L	ENSP00000227065:R103L	R	+	2	0	FAM149A	187312711	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.004000	0.12878	0.300000	0.22699	-0.263000	0.10527	CGT	FAM149A	-	NULL	ENSG00000109794		0.473	FAM149A-201	KNOWN	basic	protein_coding	FAM149A	HGNC	protein_coding			0	40	0	G	NM_001006655		187075717	1			no_errors	ENST00000356371	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.000	T	T	187075717	G	T	187075717	3	4	105	1	0	0	0	0	1	0	0	0	5474	1145	40	2	318	2	FAM149A	4	187075717	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	22828073	187075717	4078559	53	29074											
ZFP42	132625	genome.wustl.edu	37	chr4	188924012	188924012	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagacaccagaaaggcctGggtggaagagcccccagtgg	13	3	14	11	0	0	3	0	0	0	3	0	4	0	4	4	4	1	0	4	4	3	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr4:188924012G>T	ENST00000326866.4	+	4	459	c.51G>T	c.(49-51)ctG>ctT	p.L17L	ZFP42_ENST00000509524.1_Silent_p.L17L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	17					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAAGGCCTGGGTGGAAGAG	0.547																																																	0													68	72	71					4																	188924012		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.51G>T	4.37:g.188924012G>T			D3DP65|Q8WXE2	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L17	ENST00000326866.4	37	c.51	CCDS3849.1	4																																																																																			ZFP42	-	NULL	ENSG00000179059		0.547	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	HGNC	protein_coding	OTTHUMT00000359794.1	-	0	53	0	G	NM_174900		188924012	1	tier1	-	no_errors	ENST00000326866	ensembl	human	known	74_37	silent	24.53	40	13	SNP	0.000	T	T	188924012	G	T	188924012	2	4	105	1	0	0	0	0	0	0	0	1	17698	1335	47	3		3	ZFP42	4	188924012	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1848295	188924012	2230264	54	29075											
CCT5	22948	genome.wustl.edu	37	chr5	10254857	10254857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggccaccatcttaagcAtgatggatgttgatcatcag	11	11	11	8	0	3	2	2	2	1	0	3	3	3	3	2	3	1	2	2	3	1	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:10254857A>G	ENST00000280326.4	+	3	658	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	CCT5_ENST00000515676.1_Missense_Mutation_p.M42V|CCT5_ENST00000503026.1_Missense_Mutation_p.M59V|CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	80					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CATCTTAAGCATGATGGATGT	0.438																																																	0													170	145	153					5																	10254857		2203	4300	6503	SO:0001583	missense	0			D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"Heat Shock Proteins / Chaperonins"	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.238A>G	5.37:g.10254857A>G	ENSP00000280326:p.Met80Val		A8JZY8|A8K2X8|B4DYD8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi	p.M80V	ENST00000280326.4	37	c.238	CCDS3877.1	5	.	.	.	.	.	.	.	.	.	.	A	14.76	2.631990	0.46944	.	.	ENSG00000150753	ENST00000280326;ENST00000503026;ENST00000515676	T;T;T	0.77877	-1.13;-1.13;-1.13	5.64	4.43	0.53597	Chaperonin TCP-1, conserved site (1);	0.034546	0.85682	D	0.000000	T	0.75517	0.3860	M	0.72894	2.215	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.75545	-0.3280	10	0.72032	D	0.01	-43.2288	11.4575	0.50191	0.8658:0.0:0.0:0.1341	.	78;80;80	Q9BU08;A8K2X8;P48643	.;.;TCPE_HUMAN	V	80;59;42	ENSP00000280326:M80V;ENSP00000423318:M59V;ENSP00000427297:M42V	ENSP00000280326:M80V	M	+	1	0	CCT5	10307857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.146000	0.66826	0.524000	0.50904	ATG	CCT5	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_epsi	ENSG00000150753		0.438	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT5	HGNC	protein_coding	OTTHUMT00000253688.2	-	0	92	0	A			10254857	1	tier1	-	no_errors	ENST00000280326	ensembl	human	known	74_37	missense	35.06	50	27	SNP	1.000	G	G	10254857	A	G	10254857	3	3	105	1	0	0	0	0	1	0	0	0	2963	217	8	4	248	4	CCT5	5	10254857	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09		10254857	170660403	55	29076											
CDH10	1008	genome.wustl.edu	37	chr5	24537678	24537678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatcaattcgccttgtggCatgaatatcacctgtttttt	8	17	6	10	1	2	1	2	1	0	0	3	1	2	1	3	1	0	2	3	1	4	7			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:24537678C>T	ENST00000264463.4	-	3	844	c.337G>A	c.(337-339)Gcc>Acc	p.A113T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGCCTTGTGGCATGAATATCA	0.403										HNSCC(23;0.051)																																							0													133	124	127					5																	24537678		2203	4300	6503	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.337G>A	5.37:g.24537678C>T	ENSP00000264463:p.Ala113Thr		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A113T	ENST00000264463.4	37	c.337	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.179019	0.94846	.	.	ENSG00000040731	ENST00000264463	T	0.42513	0.97	5.73	5.73	0.89815	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.35542	1.07	0.58432	D	0.999995	D	0.89917	1.0	D	0.78314	0.991	T	0.56074	-0.8039	10	0.59425	D	0.04	.	18.8832	0.92365	0.0:1.0:0.0:0.0	.	113	Q9Y6N8	CAD10_HUMAN	T	113	ENSP00000264463:A113T	ENSP00000264463:A113T	A	-	1	0	CDH10	24573435	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.715000	0.92844	0.563000	0.77884	GCC	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000040731		0.403	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	83	0	C	NM_006727		24537678	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	13.89	62	10	SNP	1.000	T	T	24537678	C	T	24537678	3	4	105	1	0	0	0	0	1	0	0	0	3103	710	25	3	2069	3	CDH10	5	24537678	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	14282821	24537678	156377582	56	29077											
VCAN	1462	genome.wustl.edu	37	chr5	82838084	82838084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggcacggcaatctatttaCcaggtaagatcacaacattg	15	9	8	9	1	2	1	1	0	1	1	2	1	2	1	1	3	2	3	1	3	6	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:82838084C>T	ENST00000265077.3	+	8	9827	c.9262C>T	c.(9262-9264)Cca>Tca	p.P3088S	VCAN_ENST00000343200.5_Missense_Mutation_p.P2101S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3088	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P3088T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AATCTATTTACCAGGTAAGAT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											69	73	72					5																	82838084		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9262C>T	5.37:g.82838084C>T	ENSP00000265077:p.Pro3088Ser		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.P3088S	ENST00000265077.3	37	c.9262	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944595	0.53079	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	D;D	0.85955	-2.03;-2.05	5.9	2.59	0.31030	.	0.215254	0.33005	N	0.005390	T	0.68430	0.3000	N	0.24115	0.695	0.80722	D	1	P;P	0.44429	0.532;0.835	B;B	0.35073	0.19;0.195	T	0.64118	-0.6482	10	0.41790	T	0.15	.	5.1051	0.14779	0.1291:0.6122:0.1262:0.1326	.	2101;3088	P13611-2;P13611	.;CSPG2_HUMAN	S	3088;2101	ENSP00000265077:P3088S;ENSP00000340062:P2101S	ENSP00000265077:P3088S	P	+	1	0	VCAN	82873840	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	0.960000	0.29253	0.769000	0.33313	0.563000	0.77884	CCA	VCAN	-	NULL	ENSG00000038427		0.378	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3		0	19	0	C	NM_004385		82838084	1			no_errors	ENST00000265077	ensembl	human	known	74_37	missense	15.38	11	2	SNP	1.000	T	T	82838084	C	T	82838084	3	4	105	1	0	0	0	0	1	0	0	0	17187	507	18	3	9288	3	VCAN	5	82838084	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	58300406	82838084	98077176	57	29078											
PRRC1	133619	genome.wustl.edu	37	chr5	126860507	126860507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccccttcgggtcctcctAtatcaggattttctgttggt	5	15	8	13	1	2	0	1	0	1	0	5	1	4	1	4	3	0	1	4	3	2	6			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:126860507A>G	ENST00000296666.8	+	3	576	c.388A>G	c.(388-390)Ata>Gta	p.I130V	PRRC1_ENST00000512635.2_Missense_Mutation_p.I130V|PRRC1_ENST00000442138.2_Missense_Mutation_p.I130V	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	130						Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		GGGTCCTCCTATATCAGGATT	0.502																																																	0													157	160	159					5																	126860507		2203	4300	6503	SO:0001583	missense	0			AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.388A>G	5.37:g.126860507A>G	ENSP00000296666:p.Ile130Val		Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Missense_Mutation	SNP	pfam_NTPase/PRRC1	p.I130V	ENST00000296666.8	37	c.388	CCDS4143.1	5	.	.	.	.	.	.	.	.	.	.	A	0.851	-0.738594	0.03111	.	.	ENSG00000164244	ENST00000296666;ENST00000442138;ENST00000330542;ENST00000414018;ENST00000512635;ENST00000512535	.	.	.	5.06	5.06	0.68205	.	0.410282	0.29307	N	0.012524	T	0.21468	0.0517	N	0.16478	0.41	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.0;0.005	T	0.26087	-1.0113	9	0.06365	T	0.9	-1.5773	7.594	0.28037	0.8385:0.0:0.1615:0.0	.	130;130	Q96M27;Q96M27-5	PRRC1_HUMAN;.	V	130	.	ENSP00000296666:I130V	I	+	1	0	PRRC1	126888406	0.807000	0.29009	0.676000	0.29932	0.972000	0.66771	3.089000	0.50183	2.127000	0.65507	0.533000	0.62120	ATA	PRRC1	-	NULL	ENSG00000164244		0.502	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC1	HGNC	protein_coding	OTTHUMT00000250971.3	-	0	97	0	A	NM_130809		126860507	1	tier1	-	no_errors	ENST00000512635	ensembl	human	known	74_37	missense	10.53	85	10	SNP	0.010	G	G	126860507	A	G	126860507	3	3	105	1	0	0	0	0	1	0	0	0	12646	449	16	4	394	4	PRRC1	5	126860507	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	44022423	126860507	54054753	58	29079											
FAM53C	51307	genome.wustl.edu	37	chr5	137681156	137681156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctccccagagctgccctGgcgacctcgaggtctccgca	6	7	10	18	3	1	1	0	0	1	1	5	3	3	1	6	2	2	2	6	2	0	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:137681156G>T	ENST00000239906.5	+	4	1207	c.779G>T	c.(778-780)tGg>tTg	p.W260L	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Missense_Mutation_p.G70C|FAM53C_ENST00000434981.2_Missense_Mutation_p.W260L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	260								p.W260fs*44(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGCTGCCCTGGCGACCTCGA	0.677																																																	1	Deletion - Frameshift(1)	breast(1)											48	56	53					5																	137681156		2203	4300	6503	SO:0001583	missense	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"chromosome 5 open reading frame 6"	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.779G>T	5.37:g.137681156G>T	ENSP00000239906:p.Trp260Leu		B2RDJ5|D3DQB9	Missense_Mutation	SNP	NULL	p.W260L	ENST00000239906.5	37	c.779	CCDS4204.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.67|11.67	1.706545|1.706545	0.30232|0.30232	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000513056|ENST00000434981;ENST00000239906	T|T;T	0.56776|0.41758	0.44|0.99;0.99	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.165527	.|0.44902	.|D	.|0.000401	T|T	0.36276|0.36276	0.0961|0.0961	L|L	0.36672|0.36672	1.1|1.1	0.27901|0.27901	N|N	0.938975|0.938975	D|B	0.89917|0.20988	1.0|0.05	D|B	0.80764|0.13407	0.994|0.009	T|T	0.18903|0.18903	-1.0322|-1.0322	9|10	0.59425|0.41790	D|T	0.04|0.15	-6.5972|-6.5972	17.0466|17.0466	0.86505|0.86505	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	70|260	D6RE00|Q9NYF3	.|FA53C_HUMAN	C|L	70|260	ENSP00000425154:G70C|ENSP00000403705:W260L;ENSP00000239906:W260L	ENSP00000425154:G70C|ENSP00000239906:W260L	G|W	+|+	1|2	0|0	FAM53C|FAM53C	137709055|137709055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.988000|2.988000	0.49386|0.49386	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGC|TGG	FAM53C	-	NULL	ENSG00000120709		0.677	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2		0	41	0	G	NM_016605		137681156	1			no_errors	ENST00000239906	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	137681156	G	T	137681156	3	4	105	1	0	0	0	0	1	0	0	0	5603	1357	47	3	789	3	FAM53C	5	137681156	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	10820649	137681156	43234104	59	29080											
SLC4A9	83697	genome.wustl.edu	37	chr5	139743984	139743984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacctgcccttccgcctatgGgtgggcatctgggtggctac	4	11	13	13	1	1	0	0	0	1	0	2	0	2	0	4	4	3	2	4	4	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:139743984G>T	ENST00000230993.6	+	11	1532	c.1497G>T	c.(1495-1497)tgG>tgT	p.W499C	SLC4A9_ENST00000507527.1_Missense_Mutation_p.W499C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.W475C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.W464C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.W475C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	499	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGCCTATGGGTGGGCATCT	0.587																																																	0													55	58	57					5																	139743984		2062	4210	6272	SO:0001583	missense	0			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"Solute carriers"	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.1497G>T	5.37:g.139743984G>T	ENSP00000230993:p.Trp499Cys		B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.W499C	ENST00000230993.6	37	c.1497	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097160	0.76870	.	.	ENSG00000113073	ENST00000230993;ENST00000506757;ENST00000432095;ENST00000506545;ENST00000507527	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	5.06	5.06	0.68205	Bicarbonate transporter, C-terminal (1);	0.104002	0.44688	D	0.000438	D	0.88837	0.6545	M	0.67517	2.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.989;0.983;0.944;0.944	D	0.88362	0.2988	10	0.51188	T	0.08	.	18.9956	0.92812	0.0:0.0:1.0:0.0	.	475;499;464;475	E9PDK1;Q96Q91;Q96Q91-2;Q96Q91-3	.;B3A4_HUMAN;.;.	C	499;475;464;475;499	ENSP00000230993:W499C;ENSP00000424424:W475C;ENSP00000410056:W464C;ENSP00000422855:W475C;ENSP00000427661:W499C	ENSP00000230993:W499C	W	+	3	0	SLC4A9	139724168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.711000	0.84669	2.813000	0.96785	0.655000	0.94253	TGG	SLC4A9	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000113073		0.587	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	HGNC	protein_coding	OTTHUMT00000372823.1	-	0	98	0	G	NM_031467		139743984	1	tier1	-	no_errors	ENST00000230993	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T	T	139743984	G	T	139743984	3	4	105	1	0	0	0	0	1	0	0	0	14705	1241	43	3	1467	3	SLC4A9	5	139743984	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	2062828	139743984	41171276	60	29081											
PCDHB10	56126	genome.wustl.edu	37	chr5	140574310	140574310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcggtgggtcgctgctcgGtgcccgagggtccttttcca	2	11	14	14	4	0	0	0	0	0	0	5	1	2	0	4	4	2	2	4	4	0	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:140574310G>C	ENST00000239446.4	+	1	2369	c.2185G>C	c.(2185-2187)Gtg>Ctg	p.V729L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	729					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V729L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCTGCTCGGTGCCCGAGGG	0.672																																																	1	Substitution - Missense(1)	lung(1)											51	61	57					5																	140574310		2203	4298	6501	SO:0001583	missense	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2185G>C	5.37:g.140574310G>C	ENSP00000239446:p.Val729Leu		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V729L	ENST00000239446.4	37	c.2185	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	g	6.628	0.484391	0.12641	.	.	ENSG00000120324	ENST00000239446	T	0.49139	0.79	3.28	1.39	0.22231	.	.	.	.	.	T	0.40979	0.1139	M	0.65975	2.015	0.09310	N	1	B	0.28378	0.209	B	0.31245	0.126	T	0.33394	-0.9870	9	0.15952	T	0.53	.	5.5775	0.17231	0.1173:0.3906:0.4921:0.0	.	729	Q9UN67	PCDBA_HUMAN	L	729	ENSP00000239446:V729L	ENSP00000239446:V729L	V	+	1	0	PCDHB10	140554494	0.000000	0.05858	0.008000	0.14137	0.028000	0.11728	-0.085000	0.11250	0.201000	0.20466	-0.708000	0.03648	GTG	PCDHB10	-	NULL	ENSG00000120324		0.672	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	-	0	133	0	G	NM_018930		140574310	1	tier1	-	no_errors	ENST00000239446	ensembl	human	known	74_37	missense	9.41	77	8	SNP	0.000	C	C	140574310	G	C	140574310	3	2	105	1	0	0	0	0	1	0	0	0	11574	1261	44	5	2187	5	PCDHB10	5	140574310	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	830326	140574310	40340950	61	29082											
ITK	3702	genome.wustl.edu	37	chr5	156671337	156671337	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggcccccatctgccTggtgtttgagttcatggagc	6	10	14	11	0	2	1	1	1	1	0	2	3	2	3	3	4	3	3	3	4	0	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr5:156671337T>G	ENST00000422843.3	+	13	1450	c.1298T>G	c.(1297-1299)cTg>cGg	p.L433R	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CCCATCTGCCTGGTGTTTGAG	0.557			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													89	88	88					5																	156671337		2203	4300	6503	SO:0001583	missense	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1298T>G	5.37:g.156671337T>G	ENSP00000398655:p.Leu433Arg		B2R752|Q32ML7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L433R	ENST00000422843.3	37	c.1298	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	T	29.1	4.973677	0.92919	.	.	ENSG00000113263	ENST00000422843	D	0.85484	-1.99	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95249	0.8459	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96690	0.9510	10	0.87932	D	0	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	433	Q08881	ITK_HUMAN	R	433	ENSP00000398655:L433R	ENSP00000398655:L433R	L	+	2	0	ITK	156603915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.887000	0.87295	2.333000	0.79357	0.482000	0.46254	CTG	ITK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113263		0.557	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	63	0	T			156671337	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	17.95	32	7	SNP	1.000	G	G	156671337	T	G	156671337	3	3	105	1	0	0	0	0	1	0	0	0	7936	1580	55	4	1348	4	ITK	5	156671337	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	16097027	156671337	24243923	62	29083											
MUC21	394263	genome.wustl.edu	37	chr6	30955265	30955265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaacacagccaccaactCtgggtccagtgtgacctctg	9	7	10	15	0	2	1	0	1	2	0	3	1	3	1	5	2	3	0	5	2	2	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:30955265C>G	ENST00000376296.3	+	2	1554	c.1313C>G	c.(1312-1314)tCt>tGt	p.S438C	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	438	Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GCCACCAACTCTGGGTCCAGT	0.577																																																	0													124	119	121					6																	30955265		2203	4300	6503	SO:0001583	missense	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"Mucins"	21661	protein-coding gene	gene with protein product	"epiglycanin"		"chromosome 6 open reading frame 205"	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1313C>G	6.37:g.30955265C>G	ENSP00000365473:p.Ser438Cys		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	NULL	p.S438C	ENST00000376296.3	37	c.1313	CCDS34388.1	6	.	.	.	.	.	.	.	.	.	.	c	10.21	1.286731	0.23478	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02301	4.35	3.96	2.16	0.27623	.	.	.	.	.	T	0.01695	0.0054	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.61874	0.895	T	0.50372	-0.8836	9	0.66056	D	0.02	0.2489	6.228	0.20718	0.0:0.7655:0.0:0.2345	.	438	Q5SSG8	MUC21_HUMAN	C	288;438	ENSP00000365473:S438C	ENSP00000365473:S438C	S	+	2	0	MUC21	31063244	0.060000	0.20803	0.001000	0.08648	0.006000	0.05464	0.434000	0.21494	0.437000	0.26423	0.591000	0.81541	TCT	MUC21	-	NULL	ENSG00000204544		0.577	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	-	0	108	0	C	NM_001010909		30955265	1	tier1	-	no_errors	ENST00000376296	ensembl	human	known	74_37	missense	8.70	84	8	SNP	0.004	G	G	30955265	C	G	30955265	3	3	105	1	0	0	0	0	1	0	0	0	10015	913	32	5	1319	5	MUC21	6	30955265	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		30955265	140159802	63	29084											
C6orf26	401251	genome.wustl.edu	37	chr6	31731219	31731219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgcaggctctggagagaGaacaggatgccctgtggcag	10	6	17	8	0	1	2	0	0	1	2	1	6	1	4	1	5	3	3	1	5	1	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:31731219G>A	ENST00000425424.1	+	2	201	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MSH5_ENST00000534153.4_3'UTR|SAPCD1_ENST00000415669.2_Missense_Mutation_p.E48K|MSH5-SAPCD1_ENST00000493662.2_3'UTR|VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	48																	TCTGGAGAGAGAACAGGATGC	0.592																																																	0													78	78	78					6																	31731219		1510	2708	4218	SO:0001583	missense	0				CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 26"	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.142G>A	6.37:g.31731219G>A	ENSP00000413372:p.Glu48Lys		A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	pfam_APC_dom	p.E48K	ENST00000425424.1	37	c.142		6	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227790	0.39399	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	D;D	0.86627	-2.15;-2.15	4.56	-0.862	0.10673	.	.	.	.	.	T	0.67757	0.2927	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.62282	-0.6887	8	0.87932	D	0	-2.8253	10.0266	0.42074	0.0903:0.6179:0.2918:0.0	.	48	Q5SSQ6-2	.	K	48	ENSP00000411948:E48K;ENSP00000413372:E48K	ENSP00000411948:E48K	E	+	1	0	C6orf26	31839198	0.998000	0.40836	0.082000	0.20525	0.995000	0.86356	1.369000	0.34227	-0.287000	0.09064	-0.175000	0.13238	GAA	SAPCD1	-	pfam_APC_dom	ENSG00000228727		0.592	SAPCD1-203	KNOWN	basic	protein_coding	SAPCD1	HGNC	protein_coding		-	0	68	0	G	NM_001039651		31731219	1	tier1	-	no_errors	ENST00000415669	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.230	A	A	31731219	G	A	31731219	3	1	105	1	0	0	0	0	1	0	0	0	2368	943	33	3	148	3	C6orf26	6	31731219	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	775954	31731219	139383848	64	29085											
CFB	629	genome.wustl.edu	37	chr6	31914956	31914956	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgggcagacagcgatCtgtgacaacggaggtgagaa	12	6	17	6	2	1	3	0	2	1	2	1	7	1	5	0	4	2	1	0	4	2	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:31914956C>A	ENST00000425368.2	+	3	984	c.471C>A	c.(469-471)atC>atA	p.I157I	CFB_ENST00000456570.1_Silent_p.I659I|CFB_ENST00000477310.1_Silent_p.I508I|CFB_ENST00000556679.1_Silent_p.I659I	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	157	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGACAGCGATCTGTGACAACG	0.597																																																	0													66	71	69					6																	31914956		1511	2709	4220	SO:0001819	synonymous_variant	0			L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"Complement system"	1037	protein-coding gene	gene with protein product		138470	"B-factor, properdin"	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.471C>A	6.37:g.31914956C>A			B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I659	ENST00000425368.2	37	c.1977	CCDS4729.1	6																																																																																			CFB	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000243649		0.597	CFB-001	KNOWN	basic|CCDS	protein_coding	CFB	HGNC	protein_coding	OTTHUMT00000076395.3		0	41	0	C	NM_001710		31914956	1			no_errors	ENST00000556679	ensembl	human	known	74_37	silent	15.79	16	3	SNP	1.000	A	A	31914956	C	A	31914956	2	1	105	1	0	0	0	0	0	0	0	1	3285	903	32	3		3	CFB	6	31914956	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	183737	31914956	139200111	65	29086											
ITPR3	3710	genome.wustl.edu	37	chr6	33653186	33653186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagtcagagcgcttcttCaaggtgctgcacgaccgcat	11	8	11	11	3	3	2	2	0	1	2	3	3	3	2	1	1	3	4	1	1	3	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:33653186C>T	ENST00000374316.5	+	41	6418	c.5358C>T	c.(5356-5358)ttC>ttT	p.F1786F	ITPR3_ENST00000605930.1_Silent_p.F1786F			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1786					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGCGCTTCTTCAAGGTGCTGC	0.592																																																	0													63	59	61					6																	33653186		2203	4300	6503	SO:0001819	synonymous_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5358C>T	6.37:g.33653186C>T			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.F1786	ENST00000374316.5	37	c.5358	CCDS4783.1	6																																																																																			ITPR3	-	NULL	ENSG00000096433		0.592	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	-	0	51	0	C	NM_002224		33653186	1	tier1	-	no_errors	ENST00000374316	ensembl	human	known	74_37	silent	11.11	39	5	SNP	1.000	T	T	33653186	C	T	33653186	2	4	105	1	0	0	0	0	0	0	0	1	7949	825	29	3		3	ITPR3	6	33653186	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	1738230	33653186	137461881	66	29087											
TRERF1	55809	genome.wustl.edu	37	chr6	42233492	42233492	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccactcatcctaccttGactcaggggaccctggctgg	6	10	11	14	0	2	1	2	1	0	0	4	2	4	2	4	5	1	2	4	5	1	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:42233492G>T	ENST00000372922.4	-	6	2043	c.1481C>A	c.(1480-1482)tCa>tAa	p.S494*	TRERF1_ENST00000340840.2_Nonsense_Mutation_p.S494*|TRERF1_ENST00000372917.4_Nonsense_Mutation_p.S494*|TRERF1_ENST00000354325.2_Nonsense_Mutation_p.S494*|TRERF1_ENST00000541110.1_Nonsense_Mutation_p.S494*	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	494	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ATCCTACCTTGACTCAGGGGA	0.448																																																	0													58	58	58					6																	42233492		2203	4300	6503	SO:0001587	stop_gained	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"breast cancer anti-estrogen resistance 2"	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1481C>A	6.37:g.42233492G>T	ENSP00000362013:p.Ser494*		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Nonsense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S494*	ENST00000372922.4	37	c.1481	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	G	44	10.679213	0.99448	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	.	.	.	4.65	4.65	0.58169	.	0.268722	0.26170	N	0.025927	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	13.3858	0.60795	0.0:0.0:1.0:0.0	.	.	.	.	X	494	.	ENSP00000339438:S494X	S	-	2	0	TRERF1	42341470	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.576000	0.46033	2.297000	0.77311	0.491000	0.48974	TCA	TRERF1	-	NULL	ENSG00000124496		0.448	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2		0	47	0	G	NM_033502		42233492	-1			no_errors	ENST00000541110	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T	T	42233492	G	T	42233492	4	4	105	1	0	0	0	0	0	1	0	0	16523	1294	45	3	2173	3	TRERF1	6	42233492	Nonsense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	8580306	42233492	128881575	67	29088											
HCRTR2	3062	genome.wustl.edu	37	chr6	55142326	55142326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccagaaggaaaacagcccGgatgttgatgattgtgcttt	12	10	12	7	1	0	3	0	2	0	1	0	5	0	5	2	2	4	2	2	2	3	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:55142326G>T	ENST00000370862.3	+	5	1247	c.911G>T	c.(910-912)cGg>cTg	p.R304L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	304					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAACAGCCCGGATGTTGATG	0.458																																																	0													124	121	122					6																	55142326		2203	4300	6503	SO:0001583	missense	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.911G>T	6.37:g.55142326G>T	ENSP00000359899:p.Arg304Leu		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.R304L	ENST00000370862.3	37	c.911	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.370177	0.95900	.	.	ENSG00000137252	ENST00000370862	T	0.38887	1.11	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.60957	1.885	0.80722	D	1	D	0.53745	0.962	D	0.65140	0.932	T	0.54255	-0.8321	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	304	O43614	OX2R_HUMAN	L	304	ENSP00000359899:R304L	ENSP00000359899:R304L	R	+	2	0	HCRTR2	55250285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.245000	0.95431	2.880000	0.98712	0.650000	0.86243	CGG	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn	ENSG00000137252		0.458	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0	46	0	G			55142326	1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	55142326	G	T	55142326	3	4	105	1	0	0	0	0	1	0	0	0	7029	1116	39	2	929	2	HCRTR2	6	55142326	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	12908834	55142326	115972741	68	29089											
DST	667	genome.wustl.edu	37	chr6	56426280	56426280	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttccgctattttgtccttGagtaagaggccaagatcttc	9	14	9	9	1	1	3	0	1	1	2	4	3	3	3	3	1	0	3	3	1	3	7			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:56426280G>C	ENST00000361203.3	-	53	13510	c.13503C>G	c.(13501-13503)ctC>ctG	p.L4501L	DST_ENST00000446842.2_Silent_p.L4177L|DST_ENST00000244364.6_Silent_p.L2089L|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.L2415L|DST_ENST00000421834.2_Silent_p.L2415L|DST_ENST00000370754.5_Silent_p.L4681L|DST_ENST00000370769.4_Silent_p.L4503L			Q03001	DYST_HUMAN	dystonin	4501					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTGTCCTTGAGTAAGAGGC	0.368																																																	0													189	168	175					6																	56426280		1884	4100	5984	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13503C>G	6.37:g.56426280G>C			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.L4681	ENST00000361203.3	37	c.14043		6																																																																																			DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0	79	0	G	NM_001723		56426280	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	5.56	102	6	SNP	1.000	C	C	56426280	G	C	56426280	2	2	105	1	0	0	0	0	0	0	0	1	4797	1277	45	5		5	DST	6	56426280	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1283954	56426280	114688787	69	29090											
SENP6	26054	genome.wustl.edu	37	chr6	76376449	76376449	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtccagtgatgatgAtgatgacaacgacagaacta	14	11	9	7	1	0	6	0	5	0	1	1	7	1	6	1	0	2	0	1	0	3	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:76376449A>T	ENST00000447266.2	+	10	1494	c.1016A>T	c.(1015-1017)gAt>gTt	p.D339V	SENP6_ENST00000327284.8_Missense_Mutation_p.D332V|SENP6_ENST00000370014.3_Missense_Mutation_p.D339V|SENP6_ENST00000541192.1_5'Flank|SENP6_ENST00000370010.2_Missense_Mutation_p.D332V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	339					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTGATGATGATGATGACAAC	0.313																																																	0													75	71	72					6																	76376449		1891	4131	6022	SO:0001583	missense	0				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"SUMO1/sentrin specific protease 6"				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1016A>T	6.37:g.76376449A>T	ENSP00000402527:p.Asp339Val		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.D339V	ENST00000447266.2	37	c.1016	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090501	0.76756	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947	T;T;T;T;T	0.38887	2.31;2.35;1.11;2.36;1.12	5.32	5.32	0.75619	.	0.406771	0.31082	N	0.008299	T	0.48003	0.1476	L	0.54323	1.7	0.80722	D	1	D;D;D	0.64830	0.994;0.99;0.994	P;P;P	0.60117	0.791;0.623;0.869	T	0.53129	-0.8482	10	0.87932	D	0	-13.9971	15.5769	0.76397	1.0:0.0:0.0:0.0	.	332;339;332	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	V	332;339;188;332;339;229	ENSP00000359027:D332V;ENSP00000359031:D339V;ENSP00000321820:D332V;ENSP00000402527:D339V;ENSP00000391426:D229V	ENSP00000321820:D332V	D	+	2	0	SENP6	76433169	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.065000	0.76727	2.146000	0.66826	0.528000	0.53228	GAT	SENP6	-	NULL	ENSG00000112701		0.313	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2		0	15	0	A	NM_015571		76376449	1			no_errors	ENST00000370014	ensembl	human	known	74_37	missense	18.18	9	2	SNP	1.000	T	T	76376449	A	T	76376449	3	4	105	1	0	0	0	0	1	0	0	0	14095	333	12	5	1054	5	SENP6	6	76376449	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	19950169	76376449	94738618	70	29091											
PRSS35	167681	genome.wustl.edu	37	chr6	84234264	84234264	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcgcaaaatcattgcGgtctactcagggcaccagtg	11	8	12	10	2	3	0	2	0	1	0	3	1	3	1	1	3	3	2	1	3	4	2	rs374665215		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:84234264G>T	ENST00000369700.3	+	2	1281	c.1104G>T	c.(1102-1104)gcG>gcT	p.A368A	PRSS35_ENST00000536636.1_Silent_p.A368A	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	368	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AAATCATTGCGGTCTACTCAG	0.517																																																	0													75	69	71					6																	84234264		2203	4300	6503	SO:0001819	synonymous_variant	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1104G>T	6.37:g.84234264G>T			A8K7B3|Q9BQP6	Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.A368	ENST00000369700.3	37	c.1104	CCDS4999.1	6																																																																																			PRSS35	-	superfamily_Trypsin-like_Pept_dom	ENSG00000146250		0.517	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	-	0	33	0	G	NM_153362		84234264	1	tier1	-	no_errors	ENST00000369700	ensembl	human	known	74_37	silent	18.75	13	3	SNP	0.007	T	T	84234264	G	T	84234264	2	4	105	1	0	0	0	0	0	0	0	1	12666	1103	39	2		2	PRSS35	6	84234264	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	7857815	84234264	86880803	71	29092											
ECT2L	345930	genome.wustl.edu	37	chr6	139170415	139170415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcattctccagatggtgatgGagagtgtgaaggctggtgtt	8	13	15	5	0	2	4	1	2	1	2	3	5	2	4	1	4	0	2	1	4	1	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:139170415G>A	ENST00000423192.1	+	8	1074	c.913G>A	c.(913-915)Gag>Aag	p.E305K	ECT2L_ENST00000367682.2_Missense_Mutation_p.E305K|ECT2L_ENST00000541398.1_Missense_Mutation_p.E236K			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	305							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGTGATGGAGAGTGTGAA	0.408			"N, Splice, Mis"		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													210	192	197					6																	139170415		1873	4111	5984	SO:0001583	missense	0				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"Rho guanine nucleotide exchange factors", "F-boxes /  "other""	21118	protein-coding gene	gene with protein product	"lung specific F-box and DH domain containing protein", "F-box protein 49"		"chromosome 6 open reading frame 91", "epithelial cell transforming sequence 2 oncogene-like"	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.913G>A	6.37:g.139170415G>A	ENSP00000387388:p.Glu305Lys		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain	p.E305K	ENST00000423192.1	37	c.913	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	G	9.070	0.996645	0.19043	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75477	0.16;0.16;-0.94	5.6	4.71	0.59529	.	117.348000	0.02817	U	0.125042	T	0.51449	0.1675	L	0.29908	0.895	0.25662	N	0.985985	B;B	0.23249	0.082;0.049	B;B	0.25140	0.058;0.016	T	0.49184	-0.8966	10	0.62326	D	0.03	0.1838	10.8343	0.46677	0.0918:0.0:0.9082:0.0	.	236;305	F5H7S9;Q008S8	.;ECT2L_HUMAN	K	305;305;236	ENSP00000387388:E305K;ENSP00000356655:E305K;ENSP00000442307:E236K	ENSP00000356655:E305K	E	+	1	0	ECT2L	139212108	1.000000	0.71417	0.764000	0.31436	0.011000	0.07611	1.579000	0.36536	1.458000	0.47871	0.591000	0.81541	GAG	ECT2L	-	NULL	ENSG00000203734		0.408	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	-	0	78	0	G	NM_001077706		139170415	1	tier1	-	no_errors	ENST00000367682	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	A	A	139170415	G	A	139170415	3	1	105	1	0	0	0	0	1	0	0	0	4916	1175	41	3	939	3	ECT2L	6	139170415	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	54936151	139170415	31944652	72	29093											
ARID1B	57492	genome.wustl.edu	37	chr6	157528050	157528050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggaggacgagcccaggagCcgagacgagactcctctgtg	9	5	15	12	3	1	2	0	0	1	2	2	8	2	5	3	3	2	0	3	3	0	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr6:157528050C>G	ENST00000350026.5	+	19	5737	c.5736C>G	c.(5734-5736)agC>agG	p.S1912R	ARID1B_ENST00000367148.1_Missense_Mutation_p.S1965R|ARID1B_ENST00000346085.5_Missense_Mutation_p.S1925R|ARID1B_ENST00000275248.4_Missense_Mutation_p.S1907R	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1912					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGCCCAGGAGCCGAGACGAGA	0.557																																																	0													98	98	98					6																	157528050		2203	4296	6499	SO:0001583	missense	0			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"-"	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5736C>G	6.37:g.157528050C>G	ENSP00000055163:p.Ser1912Arg		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1965R	ENST00000350026.5	37	c.5895	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852512	0.51270	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02345	4.66;4.66;4.66;4.67;4.33	5.08	5.08	0.68730	.	0.128489	0.64402	D	0.000001	T	0.06690	0.0171	M	0.63428	1.95	0.58432	D	0.999991	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.64776	0.852;0.929;0.929	T	0.03619	-1.1019	10	0.72032	D	0.01	.	12.8644	0.57932	0.0:0.9216:0.0:0.0784	.	1912;1925;1907	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	R	1925;1912;1965;1907;1434	ENSP00000344546:S1925R;ENSP00000055163:S1912R;ENSP00000356116:S1965R;ENSP00000275248:S1907R;ENSP00000412835:S1434R	ENSP00000275248:S1907R	S	+	3	2	ARID1B	157569742	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	4.072000	0.57563	2.347000	0.79759	0.563000	0.77884	AGC	ARID1B	-	NULL	ENSG00000049618		0.557	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1		0	44	0	C	NM_020732		157528050	1			no_errors	ENST00000367148	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	G	G	157528050	C	G	157528050	3	3	105	1	0	0	0	0	1	0	0	0	914	738	26	5	5853	5	ARID1B	6	157528050	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	18357635	157528050	13587017	73	29094											
C1GALT1	56913	genome.wustl.edu	37	chr7	7278131	7278131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcttttcagtatgttcatGaacattatttagaagatgct	13	16	7	5	0	2	3	2	1	0	2	2	3	2	3	0	0	3	4	0	0	6	7			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:7278131G>C	ENST00000223122.3	+	2	528	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	C1GALT1_ENST00000436587.2_Missense_Mutation_p.E156Q|C1GALT1_ENST00000402468.3_Missense_Mutation_p.E156Q			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	156					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GTATGTTCATGAACATTATTT	0.363																																																	0													69	69	69					7																	7278131		2203	4299	6502	SO:0001583	missense	0			AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"Beta 3-glycosyltransferases"	24337	protein-coding gene	gene with protein product	"core 1 beta3-Gal-T"	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.466G>C	7.37:g.7278131G>C	ENSP00000223122:p.Glu156Gln		Q96QH4|Q9BTU1	Missense_Mutation	SNP	pfam_Fringe-like,pfam_Glyco_trans_31	p.E156Q	ENST00000223122.3	37	c.466	CCDS5355.1	7	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788544	0.31685	.	.	ENSG00000106392	ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.63255	-0.03;-0.03;-0.03	5.42	5.42	0.78866	.	0.194159	0.53938	D	0.000043	T	0.51839	0.1698	N	0.25485	0.75	0.43608	D	0.995979	B;B	0.11235	0.004;0.004	B;B	0.16722	0.015;0.016	T	0.42716	-0.9435	9	.	.	.	-9.7161	19.6053	0.95577	0.0:0.0:1.0:0.0	.	156;156	Q9NS00-2;Q9NS00	.;C1GLT_HUMAN	Q	156	ENSP00000389176:E156Q;ENSP00000223122:E156Q;ENSP00000384550:E156Q	.	E	+	1	0	C1GALT1	7244656	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.636000	0.67848	2.717000	0.92951	0.650000	0.86243	GAA	C1GALT1	-	pfam_Fringe-like,pfam_Glyco_trans_31	ENSG00000106392		0.363	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1	HGNC	protein_coding	OTTHUMT00000324379.2	-	0	52	0	G	NM_020156		7278131	1	tier1	-	no_errors	ENST00000223122	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	C	C	7278131	G	C	7278131	3	2	105	1	0	0	0	0	1	0	0	0	1959	1291	45	5	472	5	C1GALT1	7	7278131	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		7278131	151860532	74	29095											
COL28A1	340267	genome.wustl.edu	37	chr7	7572463	7572463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactgtttgactcgtaaacGctgacaaaagcaggagatag	15	9	10	7	2	0	3	0	2	0	1	1	4	0	3	0	1	3	4	0	1	6	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:7572463G>A	ENST00000399429.3	-	2	184	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	15					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACTCGTAAACGCTGACAAAAG	0.348																																																	0													138	127	130					7																	7572463		1861	4111	5972	SO:0001583	missense	0			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"Collagens"	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.44C>T	7.37:g.7572463G>A	ENSP00000382356:p.Ala15Val		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.A15V	ENST00000399429.3	37	c.44	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	G	3.198	-0.164241	0.06502	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.88354	-2.37	4.39	3.51	0.40186	.	0.653399	0.12897	U	0.430131	T	0.77157	0.4089	N	0.14661	0.345	0.18873	N	0.999984	B	0.16166	0.016	B	0.09377	0.004	T	0.61792	-0.6990	10	0.19590	T	0.45	-2.6641	8.0434	0.30534	0.2365:0.0:0.7635:0.0	.	15	Q2UY09	COSA1_HUMAN	V	15	ENSP00000382356:A15V	ENSP00000382347:A15V	A	-	2	0	COL28A1	7538988	0.087000	0.21565	0.993000	0.49108	0.038000	0.13279	1.092000	0.30927	1.229000	0.43630	0.563000	0.77884	GCG	COL28A1	-	NULL	ENSG00000215018		0.348	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	-	0	13	0	G	NM_001037763		7572463	-1	tier1	-	no_errors	ENST00000399429	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.398	A	A	7572463	G	A	7572463	3	1	105	1	0	0	0	0	1	0	0	0	3693	1087	38	1	3469	1	COL28A1	7	7572463	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	294332	7572463	151566200	75	29096											
HDAC9	9734	genome.wustl.edu	37	chr7	18633636	18633636	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagatgcaaaggatgatttCccccttcgaaaaactggtaa	15	9	8	9	1	0	2	0	1	0	1	2	4	1	3	2	2	2	2	2	2	5	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:18633636C>A	ENST00000432645.2	+	5	639	c.639C>A	c.(637-639)ttC>ttA	p.F213L	HDAC9_ENST00000401921.1_Missense_Mutation_p.F216L|HDAC9_ENST00000406451.4_Missense_Mutation_p.F213L|HDAC9_ENST00000456174.2_Missense_Mutation_p.F185L|HDAC9_ENST00000417496.2_Missense_Mutation_p.F255L|HDAC9_ENST00000441542.2_Missense_Mutation_p.F216L|HDAC9_ENST00000406072.1_Missense_Mutation_p.F244L|HDAC9_ENST00000428307.2_Missense_Mutation_p.F213L|HDAC9_ENST00000405010.3_Missense_Mutation_p.F213L|HDAC9_ENST00000524023.1_Missense_Mutation_p.F180L	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	213	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGATGATTTCCCCCTTCGAA	0.438																																																	0													123	118	120					7																	18633636		1936	4132	6068	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.639C>A	7.37:g.18633636C>A	ENSP00000410337:p.Phe213Leu		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F216L	ENST00000432645.2	37	c.648	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969336	0.74246	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.75367	-0.53;-0.51;-0.93;-0.39;-0.5;-0.8;-0.92;-0.92;-0.51;-0.39	6.17	3.32	0.38043	.	0.000000	0.64402	D	0.000003	D	0.84051	0.5387	M	0.79011	2.435	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.71674	0.997;0.997;0.998;0.998;0.997;0.997;0.998;0.998;0.998;0.982;0.998;0.998;0.997	D;D;D;D;D;D;D;D;D;D;D;D;D	0.77004	0.97;0.97;0.987;0.989;0.97;0.97;0.987;0.987;0.978;0.952;0.987;0.987;0.97	D	0.84381	0.0549	10	0.66056	D	0.02	-9.1928	10.4613	0.44581	0.0:0.7254:0.0:0.2746	.	180;185;213;244;255;216;216;216;213;185;213;213;235	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	L	255;258;213;213;213;244;216;213;216;185;180;213	ENSP00000401669:F255L;ENSP00000384382:F213L;ENSP00000384657:F213L;ENSP00000395655:F213L;ENSP00000384017:F244L;ENSP00000383912:F216L;ENSP00000410337:F213L;ENSP00000408617:F216L;ENSP00000388568:F185L;ENSP00000430036:F180L	ENSP00000262069:F258L	F	+	3	2	HDAC9	18600161	0.998000	0.40836	1.000000	0.80357	0.953000	0.61014	0.596000	0.24044	0.874000	0.35823	-0.345000	0.07892	TTC	HDAC9	-	pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.438	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0	67	0	C			18633636	1			no_errors	ENST00000441542	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A	A	18633636	C	A	18633636	3	1	105	1	0	0	0	0	1	0	0	0	7041	854	30	3	666	3	HDAC9	7	18633636	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	11061173	18633636	140505027	76	29097											
RELN	5649	genome.wustl.edu	37	chr7	103151393	103151393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacagagcatcacaccatCaggggagtcacagaatcttt	13	7	9	12	0	4	2	3	0	1	2	4	3	4	3	2	2	1	1	2	2	1	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:103151393C>T	ENST00000428762.1	-	51	8338	c.8179G>A	c.(8179-8181)Gat>Aat	p.D2727N	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.D2727N|RELN_ENST00000343529.5_Missense_Mutation_p.D2727N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2727					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATCACACCATCAGGGGAGTCA	0.423																																					NSCLC(146;835 1944 15585 22231 52158)												0													123	101	108					7																	103151393		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8179G>A	7.37:g.103151393C>T	ENSP00000392423:p.Asp2727Asn		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.D2727N	ENST00000428762.1	37	c.8179	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275172	0.80580	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.27402	1.67;1.67;1.67	5.65	5.65	0.86999	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.48370	0.1496	L	0.42245	1.32	0.80722	D	1	P;D	0.71674	0.924;0.998	P;D	0.79784	0.646;0.993	T	0.14117	-1.0484	10	0.19590	T	0.45	.	19.7228	0.96150	0.0:1.0:0.0:0.0	.	2727;2727	P78509-2;P78509	.;RELN_HUMAN	N	2727;2727;2727;244;2727	ENSP00000392423:D2727N;ENSP00000345694:D2727N;ENSP00000388446:D2727N	ENSP00000345694:D2727N	D	-	1	0	RELN	102938629	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.461000	0.80834	2.660000	0.90430	0.643000	0.83706	GAT	RELN	-	superfamily_Sialidases	ENSG00000189056		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	64	0	C	NM_005045		103151393	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	T	T	103151393	C	T	103151393	3	4	105	1	0	0	0	0	1	0	0	0	13265	826	29	3	2263	3	RELN	7	103151393	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	84517757	103151393	55987270	77	29098											
ATXN7L1	222255	genome.wustl.edu	37	chr7	105401875	105401875	+	Intron	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctggtccactcctggaGatgccttcatttctcctgtt	4	16	7	14	0	3	1	1	0	2	1	7	2	5	1	4	2	1	1	4	2	0	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:105401875G>T	ENST00000419735.3	-	3	401				ATXN7L1_ENST00000478915.1_Silent_p.I79I|ATXN7L1_ENST00000318724.4_Silent_p.I130I	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1											endometrium(1)|large_intestine(4)|lung(5)	10						CACTCCTGGAGATGCCTTCAT	0.443																																																	0													301	244	263					7																	105401875		2203	4300	6503	SO:0001627	intron_variant	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.355+27174C>A	7.37:g.105401875G>T			A4D0Q2|B4DTS1|Q8N2T0	Silent	SNP	NULL	p.I130	ENST00000419735.3	37	c.390	CCDS47682.1	7																																																																																			ATXN7L1	-	NULL	ENSG00000146776		0.443	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	-	0	126	0	G			105401875	-1	tier1	-	no_errors	ENST00000318724	ensembl	human	known	74_37	silent	9.59	132	14	SNP	0.998	T	T	105401875	G	T	105401875	1	4	105	0	1	0	0	0	0	0	0	0	1217	932	33	3		3	ATXN7L1	7	105401875	Intron	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	2250482	105401875	53736788	78	29099											
BCAP29	55973	genome.wustl.edu	37	chr7	107258830	107258830	+	3'UTR	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttataaaagacacttgcaAtatactgtgtcaaaatgata	17	13	5	6	0	1	2	1	1	0	1	1	2	1	2	0	0	2	1	0	0	9	7			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:107258830A>G	ENST00000005259.4	+	0	1087				BCAP29_ENST00000465919.1_3'UTR|BCAP29_ENST00000379117.2_3'UTR|BCAP29_ENST00000379119.2_Missense_Mutation_p.N276S|BCAP29_ENST00000445771.2_Missense_Mutation_p.N276S|BCAP29_ENST00000494086.1_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29						apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						GACACTTGCAATATACTGTGT	0.308																																																	0													55	60	58					7																	107258830		2203	4291	6494	SO:0001624	3_prime_UTR_variant	0				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.*22A>G	7.37:g.107258830A>G			G5E9L4|O95003	Missense_Mutation	SNP	pfam_Bap31	p.N276S	ENST00000005259.4	37	c.827	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	A	4.293	0.053541	0.08291	.	.	ENSG00000075790	ENST00000445771;ENST00000379119	.	.	.	4.81	-0.432	0.12291	.	1.985480	0.02805	N	0.123598	T	0.20780	0.0500	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.19391	0.025	T	0.28396	-1.0045	9	0.87932	D	0	.	4.1964	0.10445	0.4608:0.3493:0.1899:0.0	.	276	G5E9L4	.	S	276	.	ENSP00000368414:N276S	N	+	2	0	BCAP29	107046066	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.091000	0.15046	-0.209000	0.10156	0.533000	0.62120	AAT	BCAP29	-	NULL	ENSG00000075790		0.308	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	-	0	53	0	A	NM_018844		107258830	1	tier1	-	no_errors	ENST00000379119	ensembl	human	known	74_37	missense	51.35	36	38	SNP	0.000	G	G	107258830	A	G	107258830	1	3	105	0	1	0	0	0	0	0	0	0	1347	101	4	4		4	BCAP29	7	107258830	3'UTR	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	1856955	107258830	51879833	79	29100											
LRRN3	54674	genome.wustl.edu	37	chr7	110764419	110764419	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgaatattaaaataagaGatattcaggccaattcagtt	16	14	6	5	0	2	2	2	1	0	1	2	3	2	2	1	1	0	1	1	1	7	8			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:110764419G>C	ENST00000422987.3	+	2	2422	c.1591G>C	c.(1591-1593)Gat>Cat	p.D531H	LRRN3_ENST00000451085.1_Missense_Mutation_p.D531H|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.D531H|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	531	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D531H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TAAAATAAGAGATATTCAGGC	0.363																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											59	61	60					7																	110764419		2202	4300	6502	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	17200	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 5"					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1591G>C	7.37:g.110764419G>C	ENSP00000412417:p.Asp531His		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D531H	ENST00000422987.3	37	c.1591	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998318	0.35226	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.58940	0.3;0.3;0.3	6.17	6.17	0.99709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000006	T	0.56731	0.2005	N	0.19112	0.55	0.34703	D	0.726923	D	0.54397	0.966	P	0.55161	0.77	T	0.65635	-0.6120	10	0.48119	T	0.1	.	14.9567	0.71120	0.0674:0.0:0.9326:0.0	.	531	Q9H3W5	LRRN3_HUMAN	H	531	ENSP00000312001:D531H;ENSP00000397312:D531H;ENSP00000412417:D531H	ENSP00000312001:D531H	D	+	1	0	LRRN3	110551655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.974000	0.56852	2.941000	0.99782	0.655000	0.94253	GAT	LRRN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000173114		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0	34	0	G	NM_018334		110764419	1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	11.90	37	5	SNP	1.000	C	C	110764419	G	C	110764419	3	2	105	1	0	0	0	0	1	0	0	0	9071	942	33	5	1593	5	LRRN3	7	110764419	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	3505589	110764419	48374244	80	29101											
C7orf58	79974	genome.wustl.edu	37	chr7	120906460	120906460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggataagcccttcattGagaccaacatttgaaaatgc	13	12	7	9	0	2	2	1	2	1	1	2	4	2	3	2	1	3	0	2	1	4	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:120906460G>A	ENST00000310396.5	+	19	2957	c.2490G>A	c.(2488-2490)ttG>ttA	p.L830L		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	830						endoplasmic reticulum (GO:0005783)											GCCCTTCATTGAGACCAACAT	0.398																																																	0													160	145	150					7																	120906460		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 58"	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2490G>A	7.37:g.120906460G>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.L830	ENST00000310396.5	37	c.2490	CCDS34739.1	7																																																																																			CPED1	-	NULL	ENSG00000106034		0.398	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1		0	79	0	G	NM_024913		120906460	1			no_errors	ENST00000310396	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.995	A	A	120906460	G	A	120906460	2	1	105	1	0	0	0	0	0	0	0	1	2412	1281	45	3		3	C7orf58	7	120906460	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	10142041	120906460	38232203	81	29102											
PTPRZ1	5803	genome.wustl.edu	37	chr7	121650691	121650691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgccacctcacactGtggaaggtacttcagcctct	9	10	8	14	0	3	1	2	1	1	0	3	2	3	2	3	2	4	1	3	2	3	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:121650691G>T	ENST00000393386.2	+	12	2002	c.1591G>T	c.(1591-1593)Gtg>Ttg	p.V531L	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V531L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	531					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCTCACACTGTGGAAGGTAC	0.403																																																	0													79	76	77					7																	121650691		2203	4300	6503	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1591G>T	7.37:g.121650691G>T	ENSP00000377047:p.Val531Leu		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.V531L	ENST00000393386.2	37	c.1591	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	G	4.623	0.115855	0.08831	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.48522	0.85;0.81	5.57	1.81	0.25067	.	0.339468	0.23922	N	0.043223	T	0.19327	0.0464	N	0.04768	-0.165	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.08027	-1.0742	10	0.31617	T	0.26	.	1.1676	0.01819	0.3016:0.2214:0.3479:0.1291	.	531;531	C9JFM0;P23471	.;PTPRZ_HUMAN	L	531	ENSP00000377047:V531L;ENSP00000410000:V531L	ENSP00000377047:V531L	V	+	1	0	PTPRZ1	121437927	0.647000	0.27304	0.199000	0.23439	0.056000	0.15407	0.692000	0.25482	0.332000	0.23536	-0.768000	0.03414	GTG	PTPRZ1	-	NULL	ENSG00000106278		0.403	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	-	0	67	0	G	NM_002851		121650691	1	tier1	-	no_errors	ENST00000393386	ensembl	human	known	74_37	missense	12.50	28	4	SNP	0.026	T	T	121650691	G	T	121650691	3	4	105	1	0	0	0	0	1	0	0	0	12859	1377	48	3	1637	3	PTPRZ1	7	121650691	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	744231	121650691	37487972	82	29103											
RNF148	378925	genome.wustl.edu	37	chr7	122342397	122342397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgggaaatactttactGcccgtaccttgatagttgta	11	13	9	8	1	0	1	0	1	0	0	0	3	0	2	2	1	4	3	2	1	6	8			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:122342397G>T	ENST00000434824.1	-	1	624	c.408C>A	c.(406-408)ggC>ggA	p.G136G	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	136	PA.					integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATACTTTACTGCCCGTACCTT	0.458																																																	0													280	272	274					7																	122342397		1993	4173	6166	SO:0001819	synonymous_variant	0			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"RING-type (C3HC4) zinc fingers"	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.408C>A	7.37:g.122342397G>T			A4D0X4|Q8N308	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G136	ENST00000434824.1	37	c.408	CCDS47692.1	7																																																																																			RNF148	-	pfam_Protease-assoc_domain	ENSG00000235631		0.458	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF148	HGNC	protein_coding	OTTHUMT00000347424.1	-	0	99	0	G	NM_198085		122342397	-1	tier1	-	no_errors	ENST00000434824	ensembl	human	known	74_37	silent	6.78	55	4	SNP	1.000	T	T	122342397	G	T	122342397	2	4	105	1	0	0	0	0	0	0	0	1	13494	1306	46	3		3	RNF148	7	122342397	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	691706	122342397	36796266	83	29104											
OR6B1	135946	genome.wustl.edu	37	chr7	143701769	143701769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattctggccaccatattatGcatgcccacaggaaagcaga	13	8	8	12	0	1	1	0	0	1	1	1	2	1	2	3	2	3	2	3	2	3	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr7:143701769G>A	ENST00000408922.2	+	1	748	c.680G>A	c.(679-681)tGc>tAc	p.C227Y		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					ACCATATTATGCATGCCCACA	0.453																																																	0													210	198	202					7																	143701769		2024	4192	6216	SO:0001583	missense	0				CCDS43667.1	7q33-q35	2012-08-09			ENSG00000221813	ENSG00000221813		"GPCR / Class A : Olfactory receptors"	8354	protein-coding gene	gene with protein product							Standard	NM_001005281		Approved	OR7-3	uc003wdt.1	O95007	OTTHUMG00000157765	ENST00000408922.2:c.680G>A	7.37:g.143701769G>A	ENSP00000386151:p.Cys227Tyr		A4D2G2|B9EH47|Q6IFP6|Q96R38	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C227Y	ENST00000408922.2	37	c.680	CCDS43667.1	7	.	.	.	.	.	.	.	.	.	.	G	8.103	0.777023	0.16120	.	.	ENSG00000221813	ENST00000408922	T	0.00084	8.75	5.17	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.726576	0.11015	U	0.609012	T	0.00109	0.0003	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32666	-0.9898	10	0.87932	D	0	.	5.7254	0.18010	0.2977:0.0:0.7023:0.0	.	227	O95007	OR6B1_HUMAN	Y	227	ENSP00000386151:C227Y	ENSP00000386151:C227Y	C	+	2	0	OR6B1	143332702	0.000000	0.05858	0.259000	0.24435	0.607000	0.37147	-0.091000	0.11146	1.409000	0.46915	0.655000	0.94253	TGC	OR6B1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000221813		0.453	OR6B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B1	HGNC	protein_coding	OTTHUMT00000349566.1	-	0	62	0	G			143701769	1	tier1	-	no_errors	ENST00000408922	ensembl	human	known	74_37	missense	30.19	37	16	SNP	0.016	A	A	143701769	G	A	143701769	3	1	105	1	0	0	0	0	1	0	0	0	11226	1319	46	3	682	3	OR6B1	7	143701769	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	21359372	143701769	15436894	84	29105											
RP1L1	94137	genome.wustl.edu	37	chr8	10469643	10469643	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcggggccactcggccaagGccagggctgctgggtgagga	6	5	18	12	2	0	1	0	1	0	0	2	2	0	2	3	7	1	2	3	7	1	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:10469643G>T	ENST00000382483.3	-	4	2188	c.1965C>A	c.(1963-1965)ggC>ggA	p.G655G		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	655					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCGGCCAAGGCCAGGGCTGC	0.632																																																	0													53	63	59					8																	10469643		2116	4234	6350	SO:0001819	synonymous_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1965C>A	8.37:g.10469643G>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G655	ENST00000382483.3	37	c.1965	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	-	0	38	0	G			10469643	-1	tier1	-	no_errors	ENST00000382483	ensembl	human	known	74_37	silent	18.18	18	4	SNP	0.000	T	T	10469643	G	T	10469643	2	4	105	1	0	0	0	0	0	0	0	1	13578	1190	42	3		3	RP1L1	8	10469643	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		10469643	135894379	85	29106											
AMAC1L2	83650	genome.wustl.edu	37	chr8	11188922	11188922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctgacatccgaggcTgggcctgcttctgtgccctg	4	10	12	15	1	1	1	0	1	1	0	3	3	3	1	5	2	2	2	5	2	0	1	rs76944947	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:11188922T>C	ENST00000382435.4	+	1	526	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	103	EamA 1.					integral component of membrane (GO:0016021)		p.W103R(1)									CATCCGAGGCTGGGCCTGCTT	0.602																																																	1	Substitution - Missense(1)	pancreas(1)											216	216	216					8																	11188922		2203	4300	6503	SO:0001583	missense	0			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"Solute carriers"	15546	protein-coding gene	gene with protein product		615199	"acyl-malonyl condensing enzyme 1-like 2"	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.307T>C	8.37:g.11188922T>C	ENSP00000371872:p.Trp103Arg		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.W103R	ENST00000382435.4	37	c.307	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	t	0	-2.642709	0.00112	.	.	ENSG00000177710	ENST00000382435	T	0.69306	-0.39	0.34	-0.68	0.11346	.	0.244821	0.21560	N	0.072582	T	0.30665	0.0772	N	0.01168	-0.975	0.18873	N	0.999984	B	0.02656	0.0	B	0.01281	0.0	T	0.14062	-1.0486	10	0.23891	T	0.37	-0.4591	6.793	0.23709	0.0:0.7448:0.0:0.2552	.	103	Q96KT7	S35G5_HUMAN	R	103	ENSP00000371872:W103R	ENSP00000371872:W103R	W	+	1	0	SLC35G5	11226332	0.010000	0.17322	0.030000	0.17652	0.042000	0.13812	0.106000	0.15354	-2.178000	0.00768	-2.006000	0.00442	TGG	SLC35G5	-	pfam_DMT	ENSG00000177710		0.602	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2		0	102	0	T	NM_054028		11188922	1			no_errors	ENST00000382435	ensembl	human	known	74_37	missense	12.05	73	10	SNP	0.984	C	C	11188922	T	C	11188922	3	2	105	1	0	0	0	0	1	0	0	0	560	1580	55	4	309	4	AMAC1L2	8	11188922	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	719279	11188922	135175100	86	29107											
PLAT	5327	genome.wustl.edu	37	chr8	42038181	42038181	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcgaaactgaggctggctGtactgtctcaggccgcaggt	8	9	14	10	2	1	1	1	1	1	0	2	2	1	1	1	4	3	4	1	4	2	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:42038181G>T	ENST00000220809.4	-	10	1168	c.912C>A	c.(910-912)taC>taA	p.Y304*	PLAT_ENST00000524009.1_Nonsense_Mutation_p.Y215*|PLAT_ENST00000352041.3_Nonsense_Mutation_p.Y258*|PLAT_ENST00000519510.1_Nonsense_Mutation_p.Y241*|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000429710.2_Nonsense_Mutation_p.Y178*|PLAT_ENST00000429089.2_Nonsense_Mutation_p.Y304*	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	304					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GAGGCTGGCTGTACTGTCTCA	0.632																																																	0													52	49	50					8																	42038181		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.912C>A	8.37:g.42038181G>T	ENSP00000220809:p.Tyr304*		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Nonsense_Mutation	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.Y304*	ENST00000220809.4	37	c.912	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478863	0.84747	.	.	ENSG00000104368	ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000429710;ENST00000524009	.	.	.	5.38	3.45	0.39498	.	0.750313	0.13429	N	0.388609	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1642	0.25681	0.1437:0.2626:0.5937:0.0	.	.	.	.	X	304;304;258;241;178;215	.	ENSP00000220809:Y304X	Y	-	3	2	PLAT	42157338	0.991000	0.36638	0.989000	0.46669	0.123000	0.20343	1.760000	0.38430	2.671000	0.90904	0.650000	0.86243	TAC	PLAT	-	superfamily_Trypsin-like_Pept_dom	ENSG00000104368		0.632	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1		0	29	0	G	NM_000930		42038181	-1			no_errors	ENST00000220809	ensembl	human	known	74_37	nonsense	11.76	15	2	SNP	0.002	T	T	42038181	G	T	42038181	4	4	105	1	0	0	0	0	0	1	0	0	12060	1372	48	3	796	3	PLAT	8	42038181	Nonsense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	30849259	42038181	104325841	87	29108											
CA8	767	genome.wustl.edu	37	chr8	61178529	61178529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgtgctcagaaccacgCtggttttctcttccccagtg	6	12	9	14	2	2	1	1	0	1	1	4	1	3	1	4	1	2	3	4	1	1	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:61178529C>T	ENST00000317995.4	-	3	636	c.372G>A	c.(370-372)caG>caA	p.Q124Q		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	124					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CAGAACCACGCTGGTTTTCTC	0.378																																																	0													79	76	77					8																	61178529		2203	4300	6503	SO:0001819	synonymous_variant	0			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.372G>A	8.37:g.61178529C>T			A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q124	ENST00000317995.4	37	c.372	CCDS6174.1	8																																																																																			CA8	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000178538		0.378	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	HGNC	protein_coding	OTTHUMT00000383445.1	-	0	36	0	C			61178529	-1	tier1	-	no_errors	ENST00000317995	ensembl	human	known	74_37	silent	33.33	20	10	SNP	1.000	T	T	61178529	C	T	61178529	2	4	105	1	0	0	0	0	0	0	0	1	2530	796	28	3		3	CA8	8	61178529	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	19140348	61178529	85185493	88	29109											
PDP1	54704	genome.wustl.edu	37	chr8	94934978	94934978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgagtcgactgatattGatgttaaggaggctctaatt	10	14	12	5	1	1	3	0	3	1	0	2	5	1	4	0	3	0	2	0	3	3	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:94934978G>A	ENST00000297598.4	+	2	960	c.691G>A	c.(691-693)Gat>Aat	p.D231N	PDP1_ENST00000396200.3_Missense_Mutation_p.D256N|PDP1_ENST00000517764.1_Missense_Mutation_p.D231N|PDP1_ENST00000520728.1_Missense_Mutation_p.D231N	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	231					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D231H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GACTGATATTGATGTTAAGGA	0.413																																																	1	Substitution - Missense(1)	pancreas(1)											119	119	119					8																	94934978		2203	4300	6503	SO:0001583	missense	0			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"	9279	protein-coding gene	gene with protein product		605993	"protein phosphatase 2C, magnesium-dependent, catalytic subunit"	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.691G>A	8.37:g.94934978G>A	ENSP00000297598:p.Asp231Asn		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.D256N	ENST00000297598.4	37	c.766	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901211	0.72754	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	6.16	6.16	0.99307	Protein phosphatase 2C-like (5);	0.049508	0.85682	D	0.000000	T	0.18130	0.0435	L	0.38175	1.15	0.49389	D	0.999789	B;B	0.19445	0.036;0.036	B;B	0.25759	0.046;0.063	T	0.10314	-1.0635	10	0.15499	T	0.54	-23.5367	20.8598	0.99761	0.0:0.0:1.0:0.0	.	282;231	B4DYX8;Q9P0J1	.;PDP1_HUMAN	N	231;231;256;231;231	ENSP00000297598:D231N;ENSP00000428317:D231N;ENSP00000379503:D256N;ENSP00000430380:D231N	ENSP00000297598:D231N	D	+	1	0	PDP1	95004154	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.640000	0.61368	2.937000	0.99478	0.650000	0.86243	GAT	PDP1	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000164951		0.413	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2		0	29	0	G	NM_018444		94934978	1			no_errors	ENST00000396200	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	A	A	94934978	G	A	94934978	3	1	105	1	0	0	0	0	1	0	0	0	11724	1290	45	3	874	3	PDP1	8	94934978	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	33756449	94934978	51429044	89	29110											
CSMD3	114788	genome.wustl.edu	37	chr8	113326823	113326823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactccagtagaatctagccGtaattcattggcaggacaga	13	9	10	9	1	2	2	1	0	1	2	3	4	3	3	2	2	1	3	2	2	4	5	rs199998952	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:113326823G>A	ENST00000297405.5	-	48	7628	c.7384C>T	c.(7384-7386)Cgg>Tgg	p.R2462W	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2422W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2392W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2358W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2462	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATCTAGCCGTAATTCATTG	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													59	57	58					8																	113326823		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7384C>T	8.37:g.113326823G>A	ENSP00000297405:p.Arg2462Trp		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2462W	ENST00000297405.5	37	c.7384	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886973	0.91814	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25579	2.09;2.09;2.11;1.79;2.11	4.98	4.98	0.66077	CUB (3);	0.000000	0.64402	D	0.000003	T	0.50154	0.1599	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.994	T	0.41448	-0.9508	10	0.38643	T	0.18	.	18.4156	0.90568	0.0:0.0:1.0:0.0	.	2358;2462;2422	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	2422;2462;1732;2358;2392	ENSP00000345799:R2422W;ENSP00000297405:R2462W;ENSP00000341558:R1732W;ENSP00000412263:R2358W;ENSP00000343124:R2392W	ENSP00000297405:R2462W	R	-	1	2	CSMD3	113395999	1.000000	0.71417	0.957000	0.39632	0.968000	0.65278	7.798000	0.85924	2.576000	0.86940	0.579000	0.79373	CGG	CSMD3	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	40	0	G	NM_052900		113326823	-1	tier1	rs199998952	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A	A	113326823	G	A	113326823	3	1	105	1	0	0	0	0	1	0	0	0	3955	1144	40	1	3835	1	CSMD3	8	113326823	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	18391845	113326823	33037199	90	29111											
SLC39A4	55630	genome.wustl.edu	37	chr8	145640648	145640648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctcgctgctgtgctgctgGaacacaaagtccacgaagta	11	8	10	12	2	0	0	0	0	0	0	2	2	1	1	2	1	4	5	2	1	4	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr8:145640648G>A	ENST00000301305.3	-	3	735	c.630C>T	c.(628-630)ttC>ttT	p.F210F	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Silent_p.F185F	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	210					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGTGCTGCTGGAACACAAAGT	0.682																																																	0													53	53	53					8																	145640648		2201	4299	6500	SO:0001819	synonymous_variant	0			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"Solute carriers"	17129	protein-coding gene	gene with protein product		607059	"acrodermatitis enteropathica, zinc-deficiency type"	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.630C>T	8.37:g.145640648G>A			Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	pfam_ZIP	p.F210	ENST00000301305.3	37	c.630	CCDS6424.1	8																																																																																			SLC39A4	-	NULL	ENSG00000147804		0.682	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A4	HGNC	protein_coding	OTTHUMT00000382688.1	-	0	23	0	G			145640648	-1	tier1	-	no_errors	ENST00000301305	ensembl	human	known	74_37	silent	30.56	25	11	SNP	0.103	A	A	145640648	G	A	145640648	2	1	105	1	0	0	0	0	0	0	0	1	14665	1165	41	3		3	SLC39A4	8	145640648	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	32313825	145640648	723374	91	29112											
CDC37L1	55664	genome.wustl.edu	37	chr9	4697769	4697769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcagaaaggggctttaAtggaacaaatagcacatcaa	16	11	8	6	0	2	1	2	0	0	1	2	2	2	2	0	3	2	2	0	3	6	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:4697769A>G	ENST00000381854.3	+	5	839	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	CDC37L1_ENST00000381858.1_Missense_Mutation_p.M213V	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	213	Self-association and interaction with Hsp90.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGGGGCTTTAATGGAACAAAT	0.274																																																	0													57	56	57					9																	4697769		2201	4300	6501	SO:0001583	missense	0			AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1", "cell division cycle 37 homolog (S. cerevisiae)-like 1"				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.637A>G	9.37:g.4697769A>G	ENSP00000371278:p.Met213Val		B1AL70|Q9NWS3|Q9NX16	Missense_Mutation	SNP	pfam_Cdc37_Hsp90-bd	p.M213V	ENST00000381854.3	37	c.637	CCDS6454.1	9	.	.	.	.	.	.	.	.	.	.	A	21.5	4.155448	0.78114	.	.	ENSG00000106993	ENST00000381858;ENST00000381854	T;T	0.47177	0.85;0.85	5.61	5.61	0.85477	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.67795	0.2931	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	T	0.68503	-0.5391	10	0.41790	T	0.15	-2.8893	15.7958	0.78409	1.0:0.0:0.0:0.0	.	213	Q7L3B6	CD37L_HUMAN	V	213	ENSP00000371282:M213V;ENSP00000371278:M213V	ENSP00000371278:M213V	M	+	1	0	CDC37L1	4687769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.842000	0.92136	2.134000	0.65973	0.533000	0.62120	ATG	CDC37L1	-	pfam_Cdc37_Hsp90-bd	ENSG00000106993		0.274	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC37L1	HGNC	protein_coding	OTTHUMT00000051564.1		0	52	0	A	NM_017913		4697769	1			no_errors	ENST00000381854	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	G	G	4697769	A	G	4697769	3	3	105	1	0	0	0	0	1	0	0	0	3076	101	4	4	655	4	CDC37L1	9	4697769	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09		4697769	136515662	92	29113											
SH3GL2	6456	genome.wustl.edu	37	chr9	17761480	17761480	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatggaaataatgactaaaAcaattgaataccttcaaccc	18	10	5	8	0	1	3	1	3	0	0	1	4	1	4	2	1	3	0	2	1	8	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:17761480A>T	ENST00000380607.4	+	3	280	c.160A>T	c.(160-162)Aca>Tca	p.T54S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.T7S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	54	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Binds and tubulates liposomes. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AATGACTAAAACAATTGAATA	0.353																																																	0													120	116	117					9																	17761480		2203	4300	6503	SO:0001583	missense	0			X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.160A>T	9.37:g.17761480A>T	ENSP00000369981:p.Thr54Ser		B2R618|Q9NQK5	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.T54S	ENST00000380607.4	37	c.160	CCDS6483.1	9	.	.	.	.	.	.	.	.	.	.	A	21.4	4.148213	0.78001	.	.	ENSG00000107295	ENST00000397481;ENST00000380607;ENST00000537391	T;T	0.64991	-0.13;-0.13	5.38	5.38	0.77491	BAR (3);	0.130222	0.48767	D	0.000169	T	0.72301	0.3443	M	0.84219	2.685	0.45852	D	0.99871	B;P	0.38420	0.203;0.63	B;P	0.45856	0.378;0.495	T	0.75814	-0.3185	10	0.54805	T	0.06	.	14.3608	0.66771	1.0:0.0:0.0:0.0	.	19;54	B7Z7W3;Q99962	.;SH3G2_HUMAN	S	54;54;7	ENSP00000369981:T54S;ENSP00000443365:T7S	ENSP00000369981:T54S	T	+	1	0	SH3GL2	17751480	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.125000	0.64715	2.028000	0.59812	0.477000	0.44152	ACA	SH3GL2	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000107295		0.353	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL2	HGNC	protein_coding	OTTHUMT00000051796.1	-	0	132	0	A	NM_003026		17761480	1	tier1	-	no_errors	ENST00000380607	ensembl	human	known	74_37	missense	6.78	110	8	SNP	1.000	T	T	17761480	A	T	17761480	3	4	105	1	0	0	0	0	1	0	0	0	14296	43	2	5	170	5	SH3GL2	9	17761480	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	13063711	17761480	123451951	93	29114											
TRPM6	140803	genome.wustl.edu	37	chr9	77377554	77377554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagattagaggggaccagaaGaaactggccatactttgagt	14	9	12	6	0	0	5	0	1	0	4	0	6	0	6	2	3	2	0	2	3	5	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:77377554G>A	ENST00000360774.1	-	26	4270	c.4033C>T	c.(4033-4035)Ctt>Ttt	p.L1345F	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1340F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1340F|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1345F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1345F	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1345					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGACCAGAAGAAACTGGCCA	0.463																																																	0													168	177	174					9																	77377554		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"Voltage-gated ion channels / Transient receptor potential cation channels"	17995	protein-coding gene	gene with protein product		607009	"hypomagnesemia, secondary hypocalcemia"	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4033C>T	9.37:g.77377554G>A	ENSP00000354006:p.Leu1345Phe		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L1345F	ENST00000360774.1	37	c.4033	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778445	0.49786	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.59083	0.37;0.37;0.38;0.38;0.29	5.8	4.91	0.64330	.	0.900293	0.09971	N	0.732186	T	0.66268	0.2772	L	0.36672	1.1	0.45946	D	0.998774	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.973;0.974;0.988	T	0.56986	-0.7888	10	0.45353	T	0.12	.	9.1429	0.36914	0.2299:0.0:0.7701:0.0	.	1345;1340;1340	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	F	1345;1345;1340;1340;1345;1008;1008	ENSP00000354006:L1345F;ENSP00000407341:L1345F;ENSP00000396672:L1340F;ENSP00000354962:L1340F;ENSP00000366060:L1345F	ENSP00000309693:L1008F	L	-	1	0	TRPM6	76567374	1.000000	0.71417	0.997000	0.53966	0.222000	0.24845	3.090000	0.50191	1.464000	0.47987	0.655000	0.94253	CTT	TRPM6	-	NULL	ENSG00000119121		0.463	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1		0	19	0	G	NM_017662		77377554	-1			no_errors	ENST00000451710	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.998	A	A	77377554	G	A	77377554	3	1	105	1	0	0	0	0	1	0	0	0	16638	942	33	3	2091	3	TRPM6	9	77377554	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	59616074	77377554	63835877	94	29115											
TEX10	54881	genome.wustl.edu	37	chr9	103108464	103108464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctataccattcccaacagGagtagctagttgtggaggta	11	12	10	8	0	1	0	0	0	1	0	2	2	2	2	2	3	3	4	2	3	6	8			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:103108464G>T	ENST00000374902.4	-	4	1203	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	TEX10_ENST00000537512.1_Missense_Mutation_p.P278T|TEX10_ENST00000535814.1_Missense_Mutation_p.P346T	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	343						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCCCAACAGGAGTAGCTAGT	0.393																																																	0													112	107	109					9																	103108464		2203	4300	6503	SO:0001583	missense	0			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"testis expressed gene 10", "testis expressed sequence 10"			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1027C>A	9.37:g.103108464G>T	ENSP00000364037:p.Pro343Thr		B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P343T	ENST00000374902.4	37	c.1027	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.089053	0.00367	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	.	.	.	5.46	1.89	0.25635	Armadillo-like helical (1);Armadillo-type fold (1);	0.435677	0.26535	N	0.023823	T	0.17789	0.0427	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.25904	0.0;0.0;0.137;0.065;0.0	B;B;B;B;B	0.25140	0.0;0.001;0.058;0.023;0.001	T	0.10474	-1.0628	9	0.14656	T	0.56	-2.4879	0.4265	0.00464	0.4081:0.127:0.1762:0.2887	.	278;346;211;211;343	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	T	346;343;211;278	.	ENSP00000364037:P343T	P	-	1	0	TEX10	102148285	1.000000	0.71417	0.537000	0.28052	0.045000	0.14185	0.656000	0.24948	0.371000	0.24564	-0.367000	0.07326	CCT	TEX10	-	superfamily_ARM-type_fold	ENSG00000136891		0.393	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	-	0	44	0	G	NM_017746		103108464	-1	tier1	-	no_errors	ENST00000374902	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.006	T	T	103108464	G	T	103108464	3	4	105	1	0	0	0	0	1	0	0	0	15819	1174	41	3	1810	3	TEX10	9	103108464	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	25730910	103108464	38104967	95	29116											
AKAP2	11217	genome.wustl.edu	37	chr9	112900341	112900341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctgaagcgactgtagaGgaagctgaagctgcggcttt	10	8	15	8	2	0	3	0	2	0	1	0	6	0	5	1	3	4	4	1	3	4	2	rs373159646|rs34665027|rs150402481	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:112900341G>T	ENST00000259318.7	+	2	2031	c.1824G>T	c.(1822-1824)gaG>gaT	p.E608D	AKAP2_ENST00000374525.1_Missense_Mutation_p.E697D|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E839D|AKAP2_ENST00000555236.1_Missense_Mutation_p.E839D|AKAP2_ENST00000434623.2_Missense_Mutation_p.E697D|AKAP2_ENST00000510514.5_Missense_Mutation_p.E839D|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E839D	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	608								p.E839_E840insEA(1)|p.E697_E698insEA(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGACTGTAGAGGAAGCTGAAG	0.507																																																	2	Insertion - In frame(2)	lung(2)											35	41	39					9																	112900341		2203	4300	6503	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1824G>T	9.37:g.112900341G>T	ENSP00000259318:p.Glu608Asp		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E839D	ENST00000259318.7	37	c.2517	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	8.566	0.878867	0.17395	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.52526	2.01;2.0;2.01;2.0;1.25;0.67;0.66;1.59	5.74	2.71	0.32032	.	0.830795	0.11118	N	0.597729	T	0.41789	0.1174	L	0.54323	1.7	0.30106	N	0.806963	B;B;B;B;B;B;B;B	0.33549	0.189;0.288;0.293;0.417;0.293;0.008;0.008;0.332	B;B;B;B;B;B;B;B	0.32928	0.034;0.155;0.054;0.116;0.054;0.011;0.011;0.108	T	0.43327	-0.9398	10	0.51188	T	0.08	-17.9654	8.2558	0.31756	0.0741:0.0:0.6511:0.2747	.	608;697;691;697;698;839;839;657	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	D	839;839;839;839;697;697;657;608	ENSP00000363654:E839D;ENSP00000305861:E839D;ENSP00000451476:E839D;ENSP00000421522:E839D;ENSP00000404782:E697D;ENSP00000363649:E697D;ENSP00000419268:E657D;ENSP00000259318:E608D	ENSP00000259318:E608D	E	+	3	2	PALM2-AKAP2;AKAP2	111940162	0.983000	0.35010	0.941000	0.38009	0.190000	0.23558	1.200000	0.32247	0.860000	0.35481	0.650000	0.86243	GAG	PALM2-AKAP2	-	NULL	ENSG00000157654		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3		0	19	0	G	NM_001004065		112900341	1			no_errors	ENST00000374530	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.985	T	T	112900341	G	T	112900341	3	4	105	1	0	0	0	0	1	0	0	0	451	991	35	3	2097	3	AKAP2	9	112900341	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	9791877	112900341	28313090	96	29117											
MUSK	4593	genome.wustl.edu	37	chr9	113459655	113459655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagcttgaggattcataaCgtacaaaaggaagatgcagg	15	7	14	5	1	1	2	1	1	0	1	1	5	1	5	0	4	4	3	0	4	5	4	rs41279051	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:113459655C>T	ENST00000374448.4	+	5	671	c.537C>T	c.(535-537)aaC>aaT	p.N179N	MUSK_ENST00000189978.5_Silent_p.N179N|MUSK_ENST00000416899.2_Silent_p.N179N|MUSK_ENST00000374440.3_Silent_p.N61N|MUSK_ENST00000374439.1_Silent_p.N61N	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	179	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.N179N(3)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGATTCATAACGTACAAAAGG	0.448													C|||	611	0.122005	0.0068	0.072	5008	,	,		15690	0.1974		0.171	False		,,,				2504	0.1851																3	Substitution - coding silent(3)	stomach(1)|kidney(1)|central_nervous_system(1)						C	,,	136,3704		0,136,1784	169	165	167		537,537,537	4.7	1	9	dbSNP_127	167	1435,6849		119,1197,2826	no	coding-synonymous,coding-synonymous,coding-synonymous	MUSK	NM_001166280.1,NM_001166281.1,NM_005592.3	,,	119,1333,4610	TT,TC,CC		17.3225,3.5417,12.9578	,,	179/784,179/774,179/870	113459655	1571,10553	1920	4142	6062	SO:0001819	synonymous_variant	0			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.537C>T	9.37:g.113459655C>T			Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N179	ENST00000374448.4	37	c.537	CCDS48005.1	9																																																																																			MUSK	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000030304		0.448	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding			0	51	0	C			113459655	1			no_errors	ENST00000374448	ensembl	human	known	74_37	silent	5.26	54	3	SNP	1.000	T	T	113459655	C	T	113459655	2	4	105	1	0	0	0	0	0	0	0	1	10027	535	19	1		1	MUSK	9	113459655	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	559314	113459655	27753776	97	29118											
AKNA	80709	genome.wustl.edu	37	chr9	117139229	117139229	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctgagggcagaagaaTctggtcgtttctctcctcca	7	12	12	10	1	2	3	0	1	2	2	6	3	4	3	2	3	0	3	2	3	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:117139229T>C	ENST00000307564.4	-	3	1019	c.858A>G	c.(856-858)agA>agG	p.R286R	AKNA_ENST00000374075.5_Silent_p.R205R|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000312033.3_Silent_p.R286R|AKNA_ENST00000374088.3_Silent_p.R286R	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	286					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCAGAAGAATCTGGTCGTTT	0.567																																																	0													119	106	110					9																	117139229		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.858A>G	9.37:g.117139229T>C			Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	pfam_TF_AT-hook	p.R286	ENST00000307564.4	37	c.858	CCDS6805.1	9																																																																																			AKNA	-	NULL	ENSG00000106948		0.567	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0	34	0	T	NM_030767		117139229	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	silent	35.00	13	7	SNP	0.061	C	C	117139229	T	C	117139229	2	2	105	1	0	0	0	0	0	0	0	1	463	1432	50	4		4	AKNA	9	117139229	Silent	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	3679574	117139229	24074202	98	29119											
CEL	1056	genome.wustl.edu	37	chr9	135942474	135942474	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccttggttctgcccccaGgtggctgagaaggtgggttg	4	11	17	9	0	1	1	0	1	1	1	1	2	1	1	3	6	1	3	3	6	1	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr9:135942474G>T	ENST00000372080.4	+	7	802		c.e7-1		CEL_ENST00000351304.7_Splice_Site	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase						cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)	p.?(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TCTGCCCCCAGGTGGCTGAGA	0.597																																																	1	Unknown(1)	kidney(1)											43	46	45					9																	135942474		2109	4220	6329	SO:0001630	splice_region_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"bile salt-stimulated lipase"	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.787-1G>T	9.37:g.135942474G>T			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Splice_Site	SNP	-	e7-1	ENST00000372080.4	37	c.787-1	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636429	0.47049	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	.	.	.	5.16	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8533	0.46782	0.1581:0.0:0.8419:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEL	134932295	1.000000	0.71417	0.370000	0.25965	0.241000	0.25554	9.318000	0.96334	1.175000	0.42826	0.549000	0.68633	.	CEL	-	-	ENSG00000170835		0.597	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0	78	0	G		Intron	135942474	1	tier1	-	no_errors	ENST00000372080	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	0.984	T	T	135942474	G	T	135942474	5	4	105	1	0	0	0	0	0	0	1	0	3216	1014	35	3	812	3	CEL	9	135942474	Splice_Site	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	18803245	135942474	5270957	99	29120											
TAF3	83860	genome.wustl.edu	37	chr10	8006229	8006229	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaatgttggctccagtTgcaaaatcacaaatgccaac	13	8	7	13	1	1	0	1	0	0	0	2	0	2	0	4	1	3	4	4	1	5	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:8006229T>A	ENST00000344293.5	+	3	962	c.756T>A	c.(754-756)gtT>gtA	p.V252V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	252					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGGCTCCAGTTGCAAAATCAC	0.433																																																	0													70	68	69					10																	8006229		1896	4124	6020	SO:0001819	synonymous_variant	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"Zinc fingers, PHD-type"	17303	protein-coding gene	gene with protein product		606576	"TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.756T>A	10.37:g.8006229T>A			Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V252	ENST00000344293.5	37	c.756	CCDS41487.1	10																																																																																			TAF3	-	NULL	ENSG00000165632		0.433	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	-	0	27	0	T	NM_031923		8006229	1	tier1	-	no_errors	ENST00000344293	ensembl	human	known	74_37	silent	14.81	23	4	SNP	0.951	A	A	8006229	T	A	8006229	2	1	105	1	0	0	0	0	0	0	0	1	15572	1799	63	5		5	TAF3	10	8006229	Silent	SNP	T	TCGA-LN-A49S-01A-11D-A247-09		8006229	127528518	100	29121											
FRMD4A	55691	genome.wustl.edu	37	chr10	13749049	13749049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttacctgcgtgggtcaTgaacttccacggaaaacttc	11	10	9	11	2	1	1	1	1	0	0	3	2	2	2	2	2	5	1	2	2	5	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:13749049T>A	ENST00000357447.2	-	13	1192	c.824A>T	c.(823-825)cAt>cTt	p.H275L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.H260L|AL157392.1_ENST00000410303.1_RNA|FRMD4A_ENST00000378503.1_Missense_Mutation_p.H275L|FRMD4A_ENST00000492155.1_5'UTR|FRMD4A_ENST00000342409.2_Missense_Mutation_p.H291L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	275	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCGTGGGTCATGAACTTCCAC	0.458																																																	0													72	70	70					10																	13749049		2203	4300	6503	SO:0001583	missense	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"FERM domain containing 4"	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.824A>T	10.37:g.13749049T>A	ENSP00000350032:p.His275Leu		A7E2Y3|Q5T377	Missense_Mutation	SNP	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.H275L	ENST00000357447.2	37	c.824	CCDS7101.1	10	.	.	.	.	.	.	.	.	.	.	T	12.72	2.024018	0.35701	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09	5.36	5.36	0.76844	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30973	0.034;0.302;0.066	B;B;B	0.36766	0.063;0.232;0.102	T	0.76503	-0.2935	10	0.09843	T	0.71	-14.193	15.0409	0.71791	0.0:0.0:0.0:1.0	.	291;308;275	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	L	260;275;275;308;291	ENSP00000351438:H260L;ENSP00000350032:H275L;ENSP00000367764:H275L;ENSP00000264546:H308L;ENSP00000344237:H291L	ENSP00000264546:H308L	H	-	2	0	FRMD4A	13789055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.921000	0.87530	2.037000	0.60232	0.533000	0.62120	CAT	FRMD4A	-	pfam_FERM_PH-like_C,pfscan_FERM_domain	ENSG00000151474		0.458	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	-	0	60	0	T	NM_018027		13749049	-1	tier1	-	no_errors	ENST00000357447	ensembl	human	known	74_37	missense	22.22	35	10	SNP	1.000	A	A	13749049	T	A	13749049	3	1	105	1	0	0	0	0	1	0	0	0	6075	1464	51	5	2343	5	FRMD4A	10	13749049	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	5742820	13749049	121785698	101	29122											
ABI1	10006	genome.wustl.edu	37	chr10	27066072	27066072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacagggcgctccatattCgcaggtgctattattttgtg	7	15	10	9	2	0	0	0	0	0	0	2	0	1	0	1	2	2	3	1	2	4	7	rs558636392	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:27066072C>T	ENST00000376142.2	-	3	455	c.384G>A	c.(382-384)gcG>gcA	p.A128A	ABI1_ENST00000376139.2_Silent_p.A128A|ABI1_ENST00000376138.3_Silent_p.A128A|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000376140.3_Silent_p.A128A|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000359188.4_Silent_p.A128A|ABI1_ENST00000376137.4_Silent_p.A128A|ABI1_ENST00000355394.4_Silent_p.A128A|ABI1_ENST00000346832.5_Silent_p.A145A|ABI1_ENST00000376166.1_Silent_p.A128A|ABI1_ENST00000376134.3_Silent_p.A128A|ABI1_ENST00000376160.1_Silent_p.A128A|ABI1_ENST00000376170.4_Silent_p.A128A|ABI1_ENST00000536334.1_Silent_p.A128A	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	128					actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTCCATATTCGCAGGTGCTA	0.383													C|||	2	0.000399361	0.0015	0	5008	,	,		15980	0		0	False		,,,				2504	0																0													154	140	145					10																	27066072		2203	4300	6503	SO:0001819	synonymous_variant	0			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"spectrin SH3 domain binding protein 1"	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.384G>A	10.37:g.27066072C>T			A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Silent	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.A128	ENST00000376142.2	37	c.384	CCDS7150.1	10																																																																																			ABI1	-	pfam_Abl-interactor_HHR_dom	ENSG00000136754		0.383	ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABI1	HGNC	protein_coding	OTTHUMT00000047287.1	-	0	70	0	C	NM_005470		27066072	-1	tier1	-	no_errors	ENST00000355394	ensembl	human	known	74_37	silent	21.88	49	14	SNP	0.998	T	T	27066072	C	T	27066072	2	4	105	1	0	0	0	0	0	0	0	1	88	871	31	1		1	ABI1	10	27066072	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	13317023	27066072	108468675	102	29123											
FAM21C	253725	genome.wustl.edu	37	chr10	46272800	46272800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcacaacttggagtgaagtCtgtggataagaaggttgaga	13	9	15	4	0	1	3	0	2	1	2	1	6	1	5	0	4	1	2	0	4	4	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:46272800C>G	ENST00000336378.4	+	22	2334	c.2216C>G	c.(2215-2217)tCt>tGt	p.S739C	FAM21C_ENST00000359860.4_Missense_Mutation_p.S683C|FAM21C_ENST00000540872.1_Missense_Mutation_p.S741C|FAM21C_ENST00000374362.2_Missense_Mutation_p.S741C|FAM21C_ENST00000537517.1_Intron	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	739					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGTGAAGTCTGTGGATAAG	0.423																																																	0													132	131	131					10																	46272800		1808	4044	5852	SO:0001583	missense	0				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2216C>G	10.37:g.46272800C>G	ENSP00000337541:p.Ser739Cys		B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.S741C	ENST00000336378.4	37	c.2222		10	.	.	.	.	.	.	.	.	.	.	C	8.973	0.973494	0.18736	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.01	1.98	0.26296	.	0.933535	0.09120	N	0.845878	T	0.42200	0.1192	L	0.40543	1.245	0.09310	N	1	P;P	0.42123	0.771;0.771	P;P	0.49276	0.605;0.605	T	0.33007	-0.9885	9	0.59425	D	0.04	-2.3969	6.6478	0.22945	0.283:0.717:0.0:0.0	.	741;739	Q9Y4E1-4;Q9Y4E1	.;FA21C_HUMAN	C	739;741;741;741;683;653	.	ENSP00000337541:S739C	S	+	2	0	FAM21C	45592806	0.003000	0.15002	0.045000	0.18777	0.233000	0.25261	1.201000	0.32259	1.719000	0.51432	0.289000	0.19496	TCT	FAM21C	-	NULL	ENSG00000172661		0.423	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		-	0	89	0	C			46272800	1	tier1	-	no_errors	ENST00000374362	ensembl	human	known	74_37	missense	19.79	77	19	SNP	0.132	G	G	46272800	C	G	46272800	3	3	105	1	0	0	0	0	1	0	0	0	5561	913	32	5	2308	5	FAM21C	10	46272800	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	19206728	46272800	89261947	103	29124											
SEC24C	9632	genome.wustl.edu	37	chr10	75525889	75525889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatcttcatgattgacGtctcctacaatgccatcagg	9	14	6	12	1	4	2	2	2	2	0	5	2	4	2	3	1	2	0	3	1	3	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:75525889G>T	ENST00000339365.2	+	12	1690	c.1528G>T	c.(1528-1530)Gtc>Ttc	p.V510F	SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.V510F|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Missense_Mutation_p.V391F|SEC24C_ENST00000540668.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	510					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CATGATTGACGTCTCCTACAA	0.488																																																	0													142	143	142					10																	75525889		2203	4300	6503	SO:0001583	missense	0			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"SEC24 (S. cerevisiae) related gene family, member C", "SEC24 family, member C (S. cerevisiae)"			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1528G>T	10.37:g.75525889G>T	ENSP00000343405:p.Val510Phe		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.V510F	ENST00000339365.2	37	c.1528	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545610	0.86022	.	.	ENSG00000176986	ENST00000345254;ENST00000339365;ENST00000411652	T;T;T	0.80824	-1.42;-1.42;-1.42	5.73	5.73	0.89815	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94655	0.7843	10	0.87932	D	0	-16.2749	19.8926	0.96935	0.0:0.0:1.0:0.0	.	391;510;510	E7EP00;G5EA31;P53992	.;.;SC24C_HUMAN	F	510;510;391	ENSP00000321845:V510F;ENSP00000343405:V510F;ENSP00000402913:V391F	ENSP00000343405:V510F	V	+	1	0	SEC24C	75195895	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	9.869000	0.99810	2.709000	0.92574	0.563000	0.77884	GTC	SEC24C	-	pfam_Sec23/24_trunk_dom	ENSG00000176986		0.488	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	-	0	78	0	G			75525889	1	tier1	-	no_errors	ENST00000339365	ensembl	human	known	74_37	missense	7.00	93	7	SNP	1.000	T	T	75525889	G	T	75525889	3	4	105	1	0	0	0	0	1	0	0	0	14041	1145	40	2	1566	2	SEC24C	10	75525889	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	29253089	75525889	60008858	104	29125											
NDST2	8509	genome.wustl.edu	37	chr10	75564538	75564538	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggatacttcacctgttttCtggggtcccacaatgaggaa	11	11	10	9	0	2	1	1	1	1	0	3	3	3	3	2	4	1	1	2	4	4	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:75564538C>T	ENST00000309979.6	-	9	2392	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q	RP11-574K11.31_ENST00000603027.1_Silent_p.Q612Q|NDST2_ENST00000299641.4_Silent_p.Q489Q			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	612	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CACCTGTTTTCTGGGGTCCCA	0.478																																																	0													102	96	98					10																	75564538		2203	4300	6503	SO:0001819	synonymous_variant	0			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"Sulfotransferases, membrane-bound"	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1836G>A	10.37:g.75564538C>T			Q2TB32|Q59H89	Silent	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.Q612	ENST00000309979.6	37	c.1836	CCDS7335.1	10																																																																																			NDST2	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000166507		0.478	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	-	0	71	0	C	NM_003635		75564538	-1	tier1	-	no_errors	ENST00000309979	ensembl	human	known	74_37	silent	8.96	61	6	SNP	0.999	T	T	75564538	C	T	75564538	2	4	105	1	0	0	0	0	0	0	0	1	10295	912	32	3		3	NDST2	10	75564538	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	38649	75564538	59970209	105	29126											
ACTA2	59	genome.wustl.edu	37	chr10	90701066	90701066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggccagccagatccagaCgcatgatggcatggggcaag	10	5	14	12	2	0	3	0	1	0	2	2	3	1	3	3	4	1	3	3	4	1	0	rs387906592		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:90701066C>T	ENST00000458208.1	-	6	1010	c.536G>A	c.(535-537)cGt>cAt	p.R179H	ACTA2_ENST00000224784.6_Missense_Mutation_p.R179H|ACTA2_ENST00000480297.1_5'UTR|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	179			R -> H (in MYMY5 and MSMDYS; disease phenotype include smooth muscle cells dysfunction in organs throughout the body with decreased contractile function in the iris, bladder and gastrointestinal tract). {ECO:0000269|PubMed:20734336, ECO:0000269|PubMed:20970362}.		glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CAGATCCAGACGCATGATGGC	0.547																																																	0													144	117	126					10																	90701066		2203	4300	6503	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.536G>A	10.37:g.90701066C>T	ENSP00000402373:p.Arg179His		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R179H	ENST00000458208.1	37	c.536	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626785	0.66901	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.94966	-3.57;-3.57	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.95739	0.8614	M	0.88775	2.98	0.80722	D	1	B	0.23650	0.089	B	0.29077	0.098	D	0.93754	0.7061	10	0.87932	D	0	.	18.7419	0.91777	0.0:1.0:0.0:0.0	.	179	P62736	ACTA_HUMAN	H	179;179;134	ENSP00000224784:R179H;ENSP00000402373:R179H	ENSP00000224784:R179H	R	-	2	0	ACTA2	90691046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.762000	0.94881	0.655000	0.94253	CGT	ACTA2	-	pfam_Actin-related,smart_Actin-related	ENSG00000107796		0.547	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	-	0	86	0	C	NM_001613		90701066	-1	tier1	-	no_errors	ENST00000224784	ensembl	human	known	74_37	missense	16.39	51	10	SNP	1.000	T	T	90701066	C	T	90701066	3	4	105	1	0	0	0	0	1	0	0	0	192	536	19	1	613	1	ACTA2	10	90701066	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	15136528	90701066	44833681	106	29127											
IFIT1	3434	genome.wustl.edu	37	chr10	91162762	91162762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagtacattgaagaagctCtagccaacatgtcctcacag	16	8	7	10	0	2	2	1	1	1	1	3	2	3	2	2	0	4	2	2	0	7	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:91162762C>G	ENST00000371804.3	+	2	897	c.730C>G	c.(730-732)Cta>Gta	p.L244V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.L213V	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	244					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TGAAGAAGCTCTAGCCAACAT	0.423																																																	0													146	147	146					10																	91162762		2203	4300	6503	SO:0001583	missense	0			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"Tetratricopeptide (TTC) repeat domain containing"	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.730C>G	10.37:g.91162762C>G	ENSP00000360869:p.Leu244Val		B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L244V	ENST00000371804.3	37	c.730	CCDS31243.1	10	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074078	0.36566	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.79454	-1.27;-1.27	5.49	3.6	0.41247	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.086755	0.42821	D	0.000643	D	0.85414	0.5691	M	0.88979	2.995	0.09310	N	1	D;D	0.63880	0.993;0.993	P;P	0.58210	0.835;0.835	T	0.77324	-0.2630	10	0.56958	D	0.05	.	7.979	0.30172	0.2855:0.6372:0.0:0.0772	.	244;244	Q5T7J1;P09914	.;IFIT1_HUMAN	V	244;213	ENSP00000360869:L244V;ENSP00000441968:L213V	ENSP00000360869:L244V	L	+	1	2	IFIT1	91152742	0.022000	0.18835	0.067000	0.19924	0.076000	0.17211	0.540000	0.23191	1.413000	0.46997	0.557000	0.71058	CTA	IFIT1	-	pfscan_TPR-contain_dom	ENSG00000185745		0.423	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFIT1	HGNC	protein_coding	OTTHUMT00000049302.1	-	0	61	0	C	NM_001548		91162762	1	tier1	-	no_errors	ENST00000371804	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.058	G	G	91162762	C	G	91162762	3	3	105	1	0	0	0	0	1	0	0	0	7548	912	32	5	736	5	IFIT1	10	91162762	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	461696	91162762	44371985	107	29128											
DHDPSL	112817	genome.wustl.edu	37	chr10	99371273	99371273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgctttgcaggtgaccCggcgctttgggatcccaggg	4	9	15	13	2	0	1	0	1	0	0	1	2	1	2	3	4	2	3	3	4	0	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:99371273C>T	ENST00000370646.4	+	7	1202	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Missense_Mutation_p.R118W|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	281					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.R281G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCAGGTGACCCGGCGCTTTGG	0.552																																																	1	Substitution - Missense(1)	lung(1)											60	64	63					10																	99371273		2203	4300	6503	SO:0001583	missense	0			BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"dihydrodipicolinate synthetase homolog 2 (E. coli)", "N-acetylneuraminate pyruvate lyase 2 (putative)"	613597	"chromosome 10 open reading frame 65", "dihydrodipicolinate synthase-like, mitochondrial"	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.841C>T	10.37:g.99371273C>T	ENSP00000359680:p.Arg281Trp		A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	pfam_DapA-like,prints_DapA-like	p.R281W	ENST00000370646.4	37	c.841	CCDS7467.1	10	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593310	0.28357	.	.	ENSG00000241935	ENST00000370647;ENST00000370646	D;D	0.95342	-3.68;-3.68	5.34	4.42	0.53409	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	M	0.76328	2.33	0.50813	D	0.999894	B;D	0.89917	0.301;1.0	B;D	0.70016	0.052;0.967	D	0.95856	0.8879	10	0.38643	T	0.18	-8.924	14.8602	0.70376	0.1449:0.855:0.0:0.0	.	118;281	Q86XE5-3;Q86XE5	.;HOGA1_HUMAN	W	118;281	ENSP00000359681:R118W;ENSP00000359680:R281W	ENSP00000359680:R281W	R	+	1	2	HOGA1	99361263	0.998000	0.40836	0.996000	0.52242	0.087000	0.18053	2.890000	0.48609	1.218000	0.43458	0.655000	0.94253	CGG	HOGA1	-	pfam_DapA-like	ENSG00000241935		0.552	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HOGA1	HGNC	protein_coding	OTTHUMT00000049726.1	-	0	69	0	C	NM_138413		99371273	1	tier1	-	no_errors	ENST00000370646	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.998	T	T	99371273	C	T	99371273	3	4	105	1	0	0	0	0	1	0	0	0	4494	643	23	1	867	1	DHDPSL	10	99371273	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	8208511	99371273	36163474	108	29129											
ADAM12	8038	genome.wustl.edu	37	chr10	127708387	127708387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaggggggtttggcttaCaggtcccctgcaataaacat	9	11	12	9	0	1	1	0	1	1	0	2	1	2	1	2	5	3	3	2	5	4	3	rs374420879		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr10:127708387C>T	ENST00000368679.4	-	22	2855	c.2546G>A	c.(2545-2547)tGt>tAt	p.C849Y		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	849					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTTTGGCTTACAGGTCCCCTG	0.602																																																	0													33	33	33					10																	127708387		2203	4300	6503	SO:0001583	missense	0			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"ADAM metallopeptidase domain containing"	190	protein-coding gene	gene with protein product	"meltrin alpha"	602714	"a disintegrin and metalloproteinase domain 12 (meltrin alpha)"			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2546G>A	10.37:g.127708387C>T	ENSP00000357668:p.Cys849Tyr		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.C849Y	ENST00000368679.4	37	c.2546	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.213082	0.01555	.	.	ENSG00000148848	ENST00000368679	T	0.01455	4.87	5.37	-0.507	0.11985	.	0.985106	0.08292	N	0.968330	T	0.01695	0.0054	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46034	-0.9220	10	0.49607	T	0.09	.	9.1493	0.36953	0.0:0.4678:0.0:0.5322	.	849	O43184	ADA12_HUMAN	Y	849	ENSP00000357668:C849Y	ENSP00000357668:C849Y	C	-	2	0	ADAM12	127698377	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.808000	0.04515	0.002000	0.14630	-0.145000	0.13849	TGT	ADAM12	-	NULL	ENSG00000148848		0.602	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1		0	44	0	C			127708387	-1			no_errors	ENST00000368679	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.000	T	T	127708387	C	T	127708387	3	4	105	1	0	0	0	0	1	0	0	0	236	478	17	3	191	3	ADAM12	10	127708387	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	28337114	127708387	7826360	109	29130											
CARS	833	genome.wustl.edu	37	chr11	3022364	3022364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactggaagcttccattctGggccatctgcagatattcct	8	13	8	12	0	3	1	1	0	2	1	5	2	5	2	3	2	2	2	3	2	2	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:3022364G>T	ENST00000397111.5	-	22	2472	c.2227C>A	c.(2227-2229)Cag>Aag	p.Q743K	CARS_ENST00000401769.3_3'UTR|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397114.3_Missense_Mutation_p.Q733K|CARS_ENST00000380525.4_Missense_Mutation_p.Q826K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	743					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.Q826*(1)|p.Q743*(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTCCATTCTGGGCCATCTGC	0.522			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	2	Substitution - Nonsense(2)	lung(2)											166	151	156					11																	3022364		2202	4299	6501	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.2227C>A	11.37:g.3022364G>T	ENSP00000380300:p.Gln743Lys		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.Q826K	ENST00000397111.5	37	c.2476	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764812	0.49574	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000397114	T;T;T	0.41065	1.01;1.02;1.03	4.77	3.83	0.44106	.	0.401276	0.22473	N	0.059585	T	0.38453	0.1041	L	0.47190	1.495	0.80722	D	1	P;B;P	0.45594	0.862;0.027;0.862	B;B;B	0.44278	0.445;0.024;0.445	T	0.09122	-1.0689	10	0.20046	T	0.44	-19.6654	12.5428	0.56182	0.0:0.0:0.8332:0.1668	.	743;826;733	P49589;Q5HYE4;A8MVQ3	SYCC_HUMAN;.;.	K	826;743;733	ENSP00000369897:Q826K;ENSP00000380300:Q743K;ENSP00000380303:Q733K	ENSP00000369897:Q826K	Q	-	1	0	CARS	2978940	1.000000	0.71417	0.018000	0.16275	0.009000	0.06853	8.256000	0.89848	1.169000	0.42739	0.655000	0.94253	CAG	CARS	-	NULL	ENSG00000110619		0.522	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4		0	72	0	G	NM_001751		3022364	-1			no_errors	ENST00000380525	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.971	T	T	3022364	G	T	3022364	3	4	105	1	0	0	0	0	1	0	0	0	2664	1357	47	3	23	3	CARS	11	3022364	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		3022364	131984152	110	29131											
HPS5	11234	genome.wustl.edu	37	chr11	18305401	18305401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatattggtgaaggcctctCttcttctctccagctccaaa	9	13	6	13	0	3	1	0	1	3	0	7	1	5	1	3	2	1	1	3	2	4	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:18305401C>G	ENST00000349215.3	-	21	3276	c.2999G>C	c.(2998-3000)aGa>aCa	p.R1000T	HPS5_ENST00000396253.3_Missense_Mutation_p.R886T|HPS5_ENST00000537258.1_Missense_Mutation_p.R107T|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000438420.2_Missense_Mutation_p.R886T	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	1000					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAGGCCTCTCTTCTTCTCTC	0.398									Hermansky-Pudlak syndrome																																								0													135	130	132					11																	18305401		2199	4293	6492	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2999G>C	11.37:g.18305401C>G	ENSP00000265967:p.Arg1000Thr		A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.R1000T	ENST00000349215.3	37	c.2999	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	C	8.361	0.833110	0.16820	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000537258	T;T;T	0.55052	0.54;0.54;0.54	5.98	1.58	0.23477	.	0.447351	0.26919	N	0.021830	T	0.21347	0.0514	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.03315	-1.1049	10	0.31617	T	0.26	.	1.7152	0.02900	0.1877:0.4167:0.1009:0.2947	.	1000	Q9UPZ3	HPS5_HUMAN	T	886;886;1000;107	ENSP00000379552:R886T;ENSP00000399590:R886T;ENSP00000265967:R1000T	ENSP00000265967:R1000T	R	-	2	0	HPS5	18261977	0.974000	0.33945	0.998000	0.56505	0.971000	0.66376	0.134000	0.15932	0.446000	0.26666	-0.229000	0.12294	AGA	HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.398	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	-	0	75	0	C	NM_181507		18305401	-1	tier1	-	no_errors	ENST00000349215	ensembl	human	known	74_37	missense	10.87	41	5	SNP	0.982	G	G	18305401	C	G	18305401	3	3	105	1	0	0	0	0	1	0	0	0	7369	913	32	5	402	5	HPS5	11	18305401	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	15283037	18305401	116701115	111	29132											
LDHAL6A	160287	genome.wustl.edu	37	chr11	18499176	18499176	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctatctacagtggctatgaGatggtcaaaatgaaaggtta	14	12	10	5	0	3	2	1	2	2	1	3	3	3	2	0	3	1	2	0	3	7	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:18499176G>C	ENST00000280706.2	+	6	1517	c.720G>C	c.(718-720)gaG>gaC	p.E240D	TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Missense_Mutation_p.E240D	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	240					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						GTGGCTATGAGATGGTCAAAA	0.358																																																	0													193	190	191					11																	18499176		2199	4293	6492	SO:0001583	missense	0			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.720G>C	11.37:g.18499176G>C	ENSP00000280706:p.Glu240Asp		D3DQY5	Missense_Mutation	SNP	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.E240D	ENST00000280706.2	37	c.720	CCDS7841.1	11	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377375	0.24944	.	.	ENSG00000166800	ENST00000396213;ENST00000280706	T;T	0.71103	-0.54;-0.54	4.34	1.24	0.21308	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.075484	0.52532	N	0.000078	T	0.61850	0.2380	M	0.66439	2.03	0.46260	D	0.998953	B	0.09022	0.002	B	0.17722	0.019	T	0.56733	-0.7930	10	0.56958	D	0.05	.	3.5022	0.07677	0.3445:0.0:0.4737:0.1818	.	240	Q6ZMR3	LDH6A_HUMAN	D	240	ENSP00000379516:E240D;ENSP00000280706:E240D	ENSP00000280706:E240D	E	+	3	2	LDHAL6A	18455752	1.000000	0.71417	0.003000	0.11579	0.579000	0.36224	0.944000	0.29043	0.359000	0.24239	0.563000	0.77884	GAG	LDHAL6A	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000166800		0.358	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHAL6A	HGNC	protein_coding	OTTHUMT00000395904.1	-	0	93	0	G	NM_144972		18499176	1	tier1	-	no_errors	ENST00000280706	ensembl	human	known	74_37	missense	9.09	60	6	SNP	0.998	C	C	18499176	G	C	18499176	3	2	105	1	0	0	0	0	1	0	0	0	8727	933	33	5	742	5	LDHAL6A	11	18499176	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	193775	18499176	116507340	112	29133											
DEPDC7	91614	genome.wustl.edu	37	chr11	33047376	33047376	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttctcacctaattcagaAtaagtattttggtgatgtag	11	18	7	5	0	2	2	2	1	1	1	3	2	2	2	1	1	0	2	1	1	5	9			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:33047376A>G	ENST00000241051.3	+	2	337	c.245A>G	c.(244-246)aAt>aGt	p.N82S	DEPDC7_ENST00000311388.3_Missense_Mutation_p.N73S	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	82	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CTAATTCAGAATAAGTATTTT	0.398																																																	0													166	155	159					11																	33047376		1871	4114	5985	SO:0001583	missense	0				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.245A>G	11.37:g.33047376A>G	ENSP00000241051:p.Asn82Ser		G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.N82S	ENST00000241051.3	37	c.245	CCDS41632.1	11	.	.	.	.	.	.	.	.	.	.	A	19.44	3.827870	0.71143	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	T;T	0.17054	2.3;2.3	6.04	6.04	0.98038	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.044196	0.85682	D	0.000000	T	0.32102	0.0818	L	0.45422	1.42	0.48452	D	0.999656	D;P;P;D	0.67145	0.991;0.536;0.831;0.996	P;B;B;P	0.61397	0.888;0.425;0.284;0.887	T	0.00800	-1.1561	10	0.41790	T	0.15	-3.916	16.5763	0.84648	1.0:0.0:0.0:0.0	.	82;82;73;82	B4DJ78;B4DH51;G5E941;Q96QD5	.;.;.;DEPD7_HUMAN	S	82;73	ENSP00000241051:N82S;ENSP00000308971:N73S	ENSP00000241051:N82S	N	+	2	0	DEPDC7	33003952	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.000000	0.63940	2.317000	0.78254	0.459000	0.35465	AAT	DEPDC7	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000121690		0.398	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC7	HGNC	protein_coding	OTTHUMT00000388655.1	-	0	83	0	A	NM_139160		33047376	1	tier1	-	no_errors	ENST00000241051	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	G	G	33047376	A	G	33047376	3	3	105	1	0	0	0	0	1	0	0	0	4458	101	4	4	301	4	DEPDC7	11	33047376	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	14548200	33047376	101959140	113	29134											
SERPING1	710	genome.wustl.edu	37	chr11	57373936	57373936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatggaaccctttcacttCaaaaactcagttataaaagt	17	11	5	8	0	3	1	3	0	0	1	3	2	3	2	1	1	2	1	1	1	7	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:57373936C>T	ENST00000278407.4	+	6	1172	c.945C>T	c.(943-945)ttC>ttT	p.F315F	SERPING1_ENST00000340687.6_Silent_p.F315F|SERPING1_ENST00000378324.2_Silent_p.F263F|SERPING1_ENST00000403558.1_Silent_p.F358F|SERPING1_ENST00000378323.4_Silent_p.F320F	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	315				HFKNSVI -> QLQKLSY (in Ref. 19; AA sequence). {ECO:0000305}.	blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTTTCACTTCAAAAACTCAG	0.423																																																	0													132	129	130					11																	57373936		2201	4296	6497	SO:0001819	synonymous_variant	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.945C>T	11.37:g.57373936C>T			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F315	ENST00000278407.4	37	c.945	CCDS7962.1	11																																																																																			SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000149131		0.423	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	-	0	66	0	C	NM_000062		57373936	1	tier1	-	no_errors	ENST00000278407	ensembl	human	known	74_37	silent	17.86	46	10	SNP	0.002	T	T	57373936	C	T	57373936	2	4	105	1	0	0	0	0	0	0	0	1	14161	825	29	3		3	SERPING1	11	57373936	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	24326560	57373936	77632580	114	29135											
CTNND1	1500	genome.wustl.edu	37	chr11	57583408	57583408	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacgaggggcaggaatctCtggaggaagagttggatgtg	11	7	19	4	1	1	1	0	0	1	1	2	7	1	6	0	7	0	2	0	7	2	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:57583408C>G	ENST00000399050.4	+	20	3366	c.2830C>G	c.(2830-2832)Ctg>Gtg	p.L944V	CTNND1_ENST00000361391.6_Missense_Mutation_p.L917V|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000532787.1_Missense_Mutation_p.L816V|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.L884V|CTNND1_ENST00000531014.1_Missense_Mutation_p.L615V|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.L923V|CTNND1_ENST00000527467.1_Missense_Mutation_p.L621V|CTNND1_ENST00000530094.1_Missense_Mutation_p.L837V|CTNND1_ENST00000532844.1_Missense_Mutation_p.L890V|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000533667.1_Missense_Mutation_p.L594V|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000415361.2_Missense_Mutation_p.L843V|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.L863V|CTNND1_ENST00000361332.4_Missense_Mutation_p.L938V|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000528621.1_Intron	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	944					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCAGGAATCTCTGGAGGAAGA	0.493																																																	0													74	79	77					11																	57583408		1942	4135	6077	SO:0001583	missense	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"Armadillo repeat containing"	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2830C>G	11.37:g.57583408C>G	ENSP00000382004:p.Leu944Val		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L944V	ENST00000399050.4	37	c.2830	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	C	16.00	2.998017	0.54147	.	.	ENSG00000198561	ENST00000360682;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532787;ENST00000533667;ENST00000527467;ENST00000531014;ENST00000529873;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361	T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-0.77;-0.29;-0.76;-0.29;-0.69;-1.14;-0.54;-0.54;-0.79;-0.29;-0.29;-0.27;-0.27	6.17	4.3	0.51218	.	0.407817	0.20352	N	0.094040	T	0.58395	0.2119	N	0.14661	0.345	0.80722	D	1	P;P;B;B;B;P	0.39847	0.691;0.565;0.373;0.373;0.373;0.691	B;B;B;B;B;B	0.35353	0.201;0.099;0.146;0.146;0.146;0.201	T	0.53746	-0.8395	10	0.25751	T	0.34	-4.5115	10.2681	0.43466	0.0:0.8464:0.0:0.1536	.	938;944;837;864;884;923	O60716-2;O60716;O60716-18;O60716-14;O60716-10;F8WA43	.;CTND1_HUMAN;.;.;.;.	V	923;944;917;938;816;594;621;615;863;890;884;837;843	ENSP00000353902:L923V;ENSP00000382004:L944V;ENSP00000354785:L917V;ENSP00000354823:L938V;ENSP00000434949:L816V;ENSP00000437051:L594V;ENSP00000434900:L621V;ENSP00000432623:L615V;ENSP00000435494:L863V;ENSP00000433276:L890V;ENSP00000433334:L884V;ENSP00000437327:L837V;ENSP00000403518:L843V	ENSP00000353902:L923V	L	+	1	2	CTNND1	57339984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.607000	0.36836	0.923000	0.37045	0.655000	0.94253	CTG	CTNND1	-	NULL	ENSG00000198561		0.493	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	-	0	107	0	C	NM_001331		57583408	1	tier1	-	no_errors	ENST00000399050	ensembl	human	known	74_37	missense	7.14	78	6	SNP	1.000	G	G	57583408	C	G	57583408	3	3	105	1	0	0	0	0	1	0	0	0	4028	912	32	5	2900	5	CTNND1	11	57583408	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	209472	57583408	77423108	115	29136											
AHNAK	79026	genome.wustl.edu	37	chr11	62290215	62290215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacttttggcagagacacatCcatatcacccttcactttgg	10	12	6	13	0	2	1	2	0	0	1	3	2	3	1	2	2	0	1	2	2	1	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:62290215C>T	ENST00000378024.4	-	5	11948	c.11674G>A	c.(11674-11676)Gat>Aat	p.D3892N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3892					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGAGACACATCCATATCACCC	0.458																																																	0													245	253	250					11																	62290215		2202	4299	6501	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"desmoyokin"	103390	"AHNAK nucleoprotein (desmoyokin)"			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11674G>A	11.37:g.62290215C>T	ENSP00000367263:p.Asp3892Asn		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D3892N	ENST00000378024.4	37	c.11674	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	11.63	1.694982	0.30052	.	.	ENSG00000124942	ENST00000378024	T	0.03330	3.97	4.19	3.28	0.37604	.	0.000000	0.42682	D	0.000671	T	0.17619	0.0423	M	0.86343	2.81	0.37420	D	0.913585	D	0.69078	0.997	D	0.79784	0.993	T	0.04103	-1.0977	10	0.40728	T	0.16	.	9.8426	0.41008	0.0:0.9025:0.0:0.0975	.	3892	Q09666	AHNK_HUMAN	N	3892	ENSP00000367263:D3892N	ENSP00000367263:D3892N	D	-	1	0	AHNAK	62046791	0.111000	0.22076	0.002000	0.10522	0.016000	0.09150	0.558000	0.23469	0.981000	0.38548	0.543000	0.68304	GAT	AHNAK	-	NULL	ENSG00000124942		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0	142	0	C	NM_024060		62290215	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	5.31	107	6	SNP	0.854	T	T	62290215	C	T	62290215	3	4	105	1	0	0	0	0	1	0	0	0	414	855	30	3	6118	3	AHNAK	11	62290215	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	4706807	62290215	72716301	116	29137											
KCTD14	65987	genome.wustl.edu	37	chr11	77727683	77727683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaatgttaaaatggaattCgtttcttttggtggggtacg	11	16	11	3	2	1	0	0	0	1	0	2	1	1	1	0	4	1	3	0	4	6	7	rs374366969		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:77727683C>T	ENST00000353172.5	-	2	768	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	KCTD14_ENST00000533144.1_Missense_Mutation_p.E212K|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	242					protein homooligomerization (GO:0051260)			p.E242K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAATGGAATTCGTTTCTTTTG	0.448																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												1	Substitution - Missense(1)	large_intestine(1)						C	,,,LYS/GLU	1,4399	2.1+/-5.4	0,1,2199	136	121	126		,,,724	1.6	0	11		126	0,8584		0,0,4292	no	utr-3,utr-3,utr-3,missense	KCTD14,NDUFC2-KCTD14	NM_001203260.1,NM_001203261.1,NM_001203262.1,NM_023930.3	,,,56	0,1,6491	TT,TC,CC		0.0,0.0227,0.0077	,,,benign	,,,242/256	77727683	1,12983	2200	4292	6492	SO:0001583	missense	0			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"potassium channel tetramerisation domain containing 14"			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.724G>A	11.37:g.77727683C>T	ENSP00000316482:p.Glu242Lys		B2R9R8	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E242K	ENST00000353172.5	37	c.724	CCDS8255.2	11	.	.	.	.	.	.	.	.	.	.	C	0.190	-1.053945	0.01965	2.27E-4	0.0	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.62788	0.0;0.01	4.1	1.61	0.23674	.	0.449872	0.15513	N	0.258444	T	0.24044	0.0582	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	10	0.02654	T	1	.	7.5842	0.27982	0.0:0.1807:0.0:0.8193	.	242	Q9BQ13	KCD14_HUMAN	K	242;212	ENSP00000316482:E242K;ENSP00000431155:E212K	ENSP00000316482:E242K	E	-	1	0	KCTD14	77405331	0.017000	0.18338	0.000000	0.03702	0.003000	0.03518	0.799000	0.27028	0.178000	0.19917	-0.300000	0.09419	GAA	KCTD14	-	NULL	ENSG00000151364		0.448	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD14	HGNC	protein_coding	OTTHUMT00000316888.1	-	0	41	0	C	NM_023930		77727683	-1	tier1	-	no_errors	ENST00000353172	ensembl	human	known	74_37	missense	23.53	26	8	SNP	0.001	T	T	77727683	C	T	77727683	3	4	105	1	0	0	0	0	1	0	0	0	8128	893	31	1	47	1	KCTD14	11	77727683	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	15437468	77727683	57278833	117	29138											
CCDC83	220047	genome.wustl.edu	37	chr11	85597383	85597383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaatgacatcaacacaGttaaagagaatgcagagaaa	22	6	7	6	0	1	3	1	1	0	2	1	5	1	3	0	0	3	2	0	0	8	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:85597383G>T	ENST00000342404.3	+	5	700	c.484G>T	c.(484-486)Gtt>Ttt	p.V162F	CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Missense_Mutation_p.V162F|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	162										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CATCAACACAGTTAAAGAGAA	0.363																																																	0													101	86	91					11																	85597383		2203	4299	6502	SO:0001583	missense	0			AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.484G>T	11.37:g.85597383G>T	ENSP00000344512:p.Val162Phe		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	NULL	p.V162F	ENST00000342404.3	37	c.484		11	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551208	0.65311	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.51817	0.73;0.69	5.09	4.17	0.49024	.	0.195752	0.36409	N	0.002612	T	0.62829	0.2460	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.64672	-0.6352	9	.	.	.	-13.7123	5.7535	0.18160	0.0969:0.0:0.7089:0.1941	.	162;162	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	F	162	ENSP00000280245:V162F;ENSP00000344512:V162F	.	V	+	1	0	CCDC83	85275031	0.957000	0.32711	0.979000	0.43373	0.990000	0.78478	1.532000	0.36029	2.363000	0.80096	0.650000	0.86243	GTT	CCDC83	-	NULL	ENSG00000150676		0.363	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	CCDC83	HGNC	protein_coding	OTTHUMT00000392215.1		0	34	0	G	NM_173556		85597383	1			no_errors	ENST00000280245	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.864	T	T	85597383	G	T	85597383	3	4	105	1	0	0	0	0	1	0	0	0	2864	1029	36	3	498	3	CCDC83	11	85597383	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	7869700	85597383	49409133	118	29139											
FAT3	120114	genome.wustl.edu	37	chr11	92532190	92532190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaccaaagttgctattgTcaatgcagttggaaatcgcc	13	11	8	9	1	1	0	1	0	0	0	2	1	1	1	2	1	3	4	2	1	5	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:92532190T>C	ENST00000298047.6	+	9	6028	c.6011T>C	c.(6010-6012)gTc>gCc	p.V2004A	FAT3_ENST00000409404.2_Missense_Mutation_p.V2004A|FAT3_ENST00000525166.1_Missense_Mutation_p.V1854A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2004	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTGCTATTGTCAATGCAGTT	0.408										TCGA Ovarian(4;0.039)																																							0													148	143	145					11																	92532190		1905	4124	6029	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6011T>C	11.37:g.92532190T>C	ENSP00000298047:p.Val2004Ala		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V2004A	ENST00000298047.6	37	c.6011		11	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481559	0.63849	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.58210	0.35;0.35;0.35	5.82	5.82	0.92795	.	.	.	.	.	T	0.78616	0.4311	M	0.92317	3.295	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.81758	-0.0786	9	0.39692	T	0.17	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	2004	Q8TDW7-3	.	A	2004;2004;1854	ENSP00000298047:V2004A;ENSP00000387040:V2004A;ENSP00000432586:V1854A	ENSP00000298047:V2004A	V	+	2	0	FAT3	92171838	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.975000	0.88055	2.228000	0.72767	0.533000	0.62120	GTC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.408	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0	37	0	T	NM_001008781		92532190	1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	44.44	25	20	SNP	1.000	C	C	92532190	T	C	92532190	3	2	105	1	0	0	0	0	1	0	0	0	5713	1667	58	4	6045	4	FAT3	11	92532190	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	6934807	92532190	42474326	119	29140											
ZBTB16	7704	genome.wustl.edu	37	chr11	114027093	114027093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgaagacgtacgggtgcGagctctgcgggaagcggttc	8	7	18	8	5	1	2	0	1	1	1	2	5	1	4	0	4	5	3	0	4	3	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:114027093G>A	ENST00000335953.4	+	3	1683	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E435K	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	435					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTACGGGTGCGAGCTCTGCGG	0.557																																																	0													162	121	135					11																	114027093		2201	4296	6497	SO:0001583	missense	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	12930	protein-coding gene	gene with protein product	"promyelocytic leukaemia zinc finger"	176797	"zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1303G>A	11.37:g.114027093G>A	ENSP00000338157:p.Glu435Lys		Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E435K	ENST00000335953.4	37	c.1303	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911164	0.72983	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.15256	2.44;2.44	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.35288	1.05	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.02646	-1.1129	10	0.11182	T	0.66	-16.5878	18.0741	0.89422	0.0:0.0:1.0:0.0	.	435;440	Q05516;Q59H43	ZBT16_HUMAN;.	K	435;435;312	ENSP00000338157:E435K;ENSP00000376721:E435K	ENSP00000309507:E312K	E	+	1	0	ZBTB16	113532303	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.202000	0.95026	2.500000	0.84329	0.655000	0.94253	GAG	ZBTB16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000109906		0.557	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	-	0	91	0	G	NM_006006		114027093	1	tier1	-	no_errors	ENST00000335953	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	A	A	114027093	G	A	114027093	3	1	105	1	0	0	0	0	1	0	0	0	17574	1059	37	1	1309	1	ZBTB16	11	114027093	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	21494903	114027093	20979423	120	29141											
SORL1	6653	genome.wustl.edu	37	chr11	121340776	121340776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggagagaaaagcaacGtgatcgtggccttggcccga	10	6	16	9	3	0	2	0	1	0	1	1	5	0	3	2	4	2	2	2	4	3	1	rs564006388		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr11:121340776G>T	ENST00000260197.7	+	2	475	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	116					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAAAAGCAACGTGATCGTGGC	0.512																																																	0													174	138	150					11																	121340776		2203	4299	6502	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"Fibronectin type III domain containing"	11185	protein-coding gene	gene with protein product	"LDLR relative with 11 ligand-binding repeats"	602005	"chromosome 11 open reading frame 32", "sortilin-related receptor, L(DLR class) A repeats-containing"	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.346G>T	11.37:g.121340776G>T	ENSP00000260197:p.Val116Leu		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.V116L	ENST00000260197.7	37	c.346	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.210551	0.95069	.	.	ENSG00000137642	ENST00000260197	T	0.41400	1.0	6.03	6.03	0.97812	.	0.119890	0.56097	D	0.000035	T	0.62233	0.2411	L	0.52823	1.66	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.57533	-0.7795	10	0.48119	T	0.1	.	19.3381	0.94329	0.0:0.0:1.0:0.0	.	116	Q92673	SORL_HUMAN	L	116	ENSP00000260197:V116L	ENSP00000260197:V116L	V	+	1	0	SORL1	120845986	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.956000	0.93066	2.854000	0.98071	0.655000	0.94253	GTG	SORL1	-	NULL	ENSG00000137642		0.512	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2		0	50	0	G	NM_003105		121340776	1			no_errors	ENST00000260197	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	121340776	G	T	121340776	3	4	105	1	0	0	0	0	1	0	0	0	14979	1145	40	2	352	2	SORL1	11	121340776	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	7313683	121340776	13665740	121	29142											
USP5	8078	genome.wustl.edu	37	chr12	6970267	6970267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggatgcagcccttaacAaaggtaggctgctccatcag	11	8	10	12	0	1	0	1	0	0	0	2	1	2	1	3	3	4	4	3	3	3	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:6970267A>G	ENST00000229268.8	+	12	1547	c.1495A>G	c.(1495-1497)Aaa>Gaa	p.K499E	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.K499E	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	499	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCCCTTAACAAAGGTAGGCT	0.577																																																	0													120	109	113					12																	6970267		2203	4300	6503	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"Ubiquitin-specific peptidases"	12628	protein-coding gene	gene with protein product		601447	"ubiquitin specific protease 5 (isopeptidase T)"			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1495A>G	12.37:g.6970267A>G	ENSP00000229268:p.Lys499Glu		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.K499E	ENST00000229268.8	37	c.1495	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	A	24.6	4.545579	0.86022	.	.	ENSG00000111667	ENST00000229268;ENST00000389231	T;T	0.24538	1.85;1.85	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.144617	0.64402	D	0.000007	T	0.31420	0.0796	L	0.45581	1.43	0.48511	D	0.999669	B;P	0.44521	0.387;0.837	P;P	0.48089	0.566;0.559	T	0.02150	-1.1205	10	0.26408	T	0.33	-3.8782	14.9451	0.71023	1.0:0.0:0.0:0.0	.	499;499	P45974;P45974-2	UBP5_HUMAN;.	E	499	ENSP00000229268:K499E;ENSP00000373883:K499E	ENSP00000229268:K499E	K	+	1	0	USP5	6840528	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.977000	0.63792	2.110000	0.64415	0.459000	0.35465	AAA	USP5	-	pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67	ENSG00000111667		0.577	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	-	0	42	0	A			6970267	1	tier1	-	no_errors	ENST00000229268	ensembl	human	known	74_37	missense	15.69	43	8	SNP	1.000	G	G	6970267	A	G	6970267	3	3	105	1	0	0	0	0	1	0	0	0	17130	131	5	4	1541	4	USP5	12	6970267	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09		6970267	126881628	122	29143											
H2AFJ	55766	genome.wustl.edu	37	chr12	14927628	14927628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacgccgcgcgtgacaacaAgaagaccaggataattcccc	14	4	9	14	4	0	3	0	1	0	2	1	4	1	4	4	1	2	0	4	1	5	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:14927628A>G	ENST00000544848.1	+	1	359	c.224A>G	c.(223-225)aAg>aGg	p.K75R		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	75						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CGTGACAACAAGAAGACCAGG	0.647																																																	0													65	69	68					12																	14927628		2203	4300	6503	SO:0001583	missense	0			AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"Histones / Replication-independent"	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.224A>G	12.37:g.14927628A>G	ENSP00000438553:p.Lys75Arg		Q9NV63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.K75R	ENST00000544848.1	37	c.224	CCDS31752.1	12	.	.	.	.	.	.	.	.	.	.	A	13.59	2.281444	0.40394	.	.	ENSG00000246705	ENST00000544848;ENST00000228929	T;T	0.74632	-0.86;-0.86	4.78	3.64	0.41730	Histone-fold (2);Histone core (1);Histone H2A (2);	.	.	.	.	T	0.75384	0.3842	M	0.83692	2.655	0.40892	D	0.984082	B	0.21071	0.051	B	0.27170	0.077	T	0.75733	-0.3214	9	0.87932	D	0	.	9.1957	0.37226	0.9134:0.0:0.0866:0.0	.	75	Q9BTM1	H2AJ_HUMAN	R	75	ENSP00000438553:K75R;ENSP00000228929:K75R	ENSP00000228929:K75R	K	+	2	0	H2AFJ	14818895	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.183000	0.77697	1.147000	0.42369	-0.280000	0.10049	AAG	H2AFJ	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000246705		0.647	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFJ	HGNC	protein_coding	OTTHUMT00000400845.1	-	0	63	0	A	NM_177925		14927628	1	tier1	-	no_errors	ENST00000389078	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	G	G	14927628	A	G	14927628	3	3	105	1	0	0	0	0	1	0	0	0	6953	72	3	4	226	4	H2AFJ	12	14927628	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	7957361	14927628	118924267	123	29144											
CNTN1	1272	genome.wustl.edu	37	chr12	41337880	41337880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtgctgcgtcctttGatcctgccttggatctcaca	5	14	10	12	1	1	1	1	1	1	0	4	2	3	2	3	1	4	2	3	1	0	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:41337880G>T	ENST00000551295.2	+	14	1708	c.1591G>T	c.(1591-1593)Gat>Tat	p.D531Y	CNTN1_ENST00000547849.1_Missense_Mutation_p.D531Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D531Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D520Y|CNTN1_ENST00000347616.1_Missense_Mutation_p.D531Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.D531Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	531	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCGTCCTTTGATCCTGCCTT	0.393																																																	0													159	127	138					12																	41337880		2203	4299	6502	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing", "Endogenous ligands"	2171	protein-coding gene	gene with protein product	"glycoprotein gP135"	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1591G>T	12.37:g.41337880G>T	ENSP00000447006:p.Asp531Tyr		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D531Y	ENST00000551295.2	37	c.1591	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127775	0.56721	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.0	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.41511	0.1162	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	T	0.32268	-0.9913	10	0.87932	D	0	.	18.8715	0.92317	0.0:0.0:1.0:0.0	.	531;520;531	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	Y	531;531;531;531;531;520	ENSP00000448004:D531Y;ENSP00000447006:D531Y;ENSP00000448653:D531Y;ENSP00000325660:D531Y;ENSP00000353213:D531Y;ENSP00000261160:D520Y	ENSP00000325660:D531Y	D	+	1	0	CNTN1	39624147	1.000000	0.71417	0.125000	0.21846	0.261000	0.26267	9.000000	0.93564	2.774000	0.95407	0.609000	0.83330	GAT	CNTN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000018236		0.393	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	-	0	51	0	G	NM_001843		41337880	1	tier1	-	no_errors	ENST00000347616	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	41337880	G	T	41337880	3	4	105	1	0	0	0	0	1	0	0	0	3647	1290	45	3	1641	3	CNTN1	12	41337880	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	26410252	41337880	92514015	124	29145											
COL2A1	1280	genome.wustl.edu	37	chr12	48380220	48380220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggctccctgggggccagCagggccctgaggaccagcaa	8	3	17	13	0	0	1	0	1	0	0	1	2	1	2	4	6	2	3	4	6	1	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:48380220C>T	ENST00000380518.3	-	23	1590	c.1426G>A	c.(1426-1428)Gct>Act	p.A476T	COL2A1_ENST00000337299.6_Missense_Mutation_p.A407T|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	476	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TGGGGGCCAGCAGGGCCCTGA	0.612																																																	0													7	8	7					12																	48380220		2150	4214	6364	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1426G>A	12.37:g.48380220C>T	ENSP00000369889:p.Ala476Thr		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.A476T	ENST00000380518.3	37	c.1426	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424103	0.62733	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93604	-3.25;-3.25	4.87	3.98	0.46160	.	0.307194	0.28700	N	0.014434	D	0.88793	0.6533	L	0.37697	1.125	0.38971	D	0.958741	B;B	0.29162	0.197;0.235	B;B	0.28139	0.051;0.086	D	0.86477	0.1789	10	0.35671	T	0.21	.	12.5553	0.56250	0.0:0.9173:0.0:0.0827	.	407;476	P02458-1;P02458	.;CO2A1_HUMAN	T	476;407;407	ENSP00000369889:A476T;ENSP00000338213:A407T	ENSP00000338213:A407T	A	-	1	0	COL2A1	46666487	0.010000	0.17322	0.998000	0.56505	0.899000	0.52679	0.907000	0.28531	1.274000	0.44362	0.561000	0.74099	GCT	COL2A1	-	NULL	ENSG00000139219		0.612	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	-	0	47	0	C	NM_001844		48380220	-1	tier1	-	no_errors	ENST00000380518	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.999	T	T	48380220	C	T	48380220	3	4	105	1	0	0	0	0	1	0	0	0	3694	710	25	3	3165	3	COL2A1	12	48380220	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	7042340	48380220	85471675	125	29146											
MLL2	8085	genome.wustl.edu	37	chr12	49444573	49444573	+	Splice_Site	DEL	T	T	-																															agagtggaggaggaaggggaTctggaaggaaagagaaaaaa																										TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:49444573delT	ENST00000301067.7	-	11	2797	c.2798delA	c.(2797-2799)gat>gt	p.D933fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	933	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGAAGGGGATCTGGAAGGAA	0.517																																																	0													49	56	54					12																	49444573		1942	4130	6072	SO:0001630	splice_region_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2798-1A>-	12.37:g.49444573delT			O14687	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.D933fs	ENST00000301067.7	37	c.2798	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.517	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	45	0	T		Frame_Shift_Del	49444573	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	1.000	-	-	49444573	T	-	49444573	8	5	105	1	0	1	0	1	0	0	1	0	9659	1449	50	0	13991	0	MLL2	12	49444573	Splice_Site	DEL	T	TCGA-LN-A49S-01A-11D-A247-09	1064353	49444573	84407322	126	29147											
OR6C68	403284	genome.wustl.edu	37	chr12	55886520	55886520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctaccatgtcatatgatcGctatgtggccatctgcaaac	10	11	9	11	1	2	1	1	1	1	0	3	1	2	1	2	2	3	3	2	2	4	3	rs145845899		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:55886520G>A	ENST00000548615.1	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000379662.1_Missense_Mutation_p.R125H|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005519.2	NP_001005519.2	A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						TCATATGATCGCTATGTGGCC	0.368																																																	0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	164	153	156		359	2	0.1	12	dbSNP_134	156	0,8600		0,0,4300	no	missense	OR6C68	NM_001005519.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	120/313	55886520	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS31826.1, CCDS31826.2	12q13.2	2013-09-23			ENSG00000205327	ENSG00000205327		"GPCR / Class A : Olfactory receptors"	31297	protein-coding gene	gene with protein product							Standard	NM_001005519		Approved		uc031qhq.1	A6NDL8	OTTHUMG00000169958	ENST00000548615.1:c.359G>A	12.37:g.55886520G>A	ENSP00000448811:p.Arg120His			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R125H	ENST00000548615.1	37	c.374	CCDS31826.2	12	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087840	0.36855	2.27E-4	0.0	ENSG00000205327	ENST00000379662;ENST00000548615	T;T	0.77489	-1.1;-1.1	4.77	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.78767	0.4335	M	0.91300	3.195	0.33796	D	0.626109	P	0.52170	0.951	B	0.39419	0.299	D	0.84188	0.0443	10	0.87932	D	0	.	9.8571	0.41092	0.2281:0.0:0.7719:0.0	.	120	A6NDL8	O6C68_HUMAN	H	125;120	ENSP00000368983:R125H;ENSP00000448811:R120H	ENSP00000368983:R125H	R	+	2	0	OR6C68	54172787	1.000000	0.71417	0.128000	0.21923	0.227000	0.25037	4.702000	0.61817	0.331000	0.23511	0.603000	0.83216	CGC	OR6C68	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205327		0.368	OR6C68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C68	HGNC	protein_coding	OTTHUMT00000406677.1	-	0	71	0	G			55886520	1	tier1	rs145845899	no_errors	ENST00000379662	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.990	A	A	55886520	G	A	55886520	3	1	105	1	0	0	0	0	1	0	0	0	11235	1087	38	1	376	1	OR6C68	12	55886520	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	6441947	55886520	77965375	127	29148											
ESYT1	23344	genome.wustl.edu	37	chr12	56536626	56536626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttctccacagtccccttGaggctccagccgggcctctg	5	11	9	16	1	2	1	0	1	2	0	5	1	4	1	6	2	1	1	6	2	1	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:56536626G>A	ENST00000394048.5	+	27	3160	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	ESYT1_ENST00000541590.1_Missense_Mutation_p.E976K|ESYT1_ENST00000267113.4_Missense_Mutation_p.E976K|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	966					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAGTCCCCTTGAGGCTCCAGC	0.522																																																	0													60	66	64					12																	56536626		2203	4300	6503	SO:0001583	missense	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"Synaptotagmins"	29534	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member A"	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2896G>A	12.37:g.56536626G>A	ENSP00000377612:p.Glu966Lys		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.E976K	ENST00000394048.5	37	c.2926	CCDS8904.1	12	.	.	.	.	.	.	.	.	.	.	G	11.18	1.562103	0.27915	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.54479	0.58;0.57;0.57	5.08	4.15	0.48705	C2 calcium/lipid-binding domain, CaLB (1);	0.680225	0.13674	N	0.370652	T	0.39600	0.1084	L	0.34521	1.04	0.09310	N	0.99999	B;B	0.23249	0.082;0.035	B;B	0.25140	0.058;0.027	T	0.22417	-1.0217	10	0.09084	T	0.74	-11.89	11.5764	0.50864	0.0:0.1807:0.8193:0.0	.	976;966	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	K	966;920;976;976	ENSP00000377612:E966K;ENSP00000267113:E976K;ENSP00000445952:E976K	ENSP00000267113:E976K	E	+	1	0	ESYT1	54822893	0.446000	0.25665	0.015000	0.15790	0.112000	0.19704	2.464000	0.45067	1.230000	0.43646	0.561000	0.74099	GAG	ESYT1	-	superfamily_C2_dom	ENSG00000139641		0.522	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	-	0	42	0	G	NM_015292		56536626	1	tier1	-	no_errors	ENST00000267113	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.086	A	A	56536626	G	A	56536626	3	1	105	1	0	0	0	0	1	0	0	0	5280	1291	45	3	3032	3	ESYT1	12	56536626	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	650106	56536626	77315269	128	29149											
E2F7	144455	genome.wustl.edu	37	chr12	77440035	77440035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatgccagccatactgattCttagccacccggctgaccag	9	8	8	16	1	1	2	0	2	1	0	1	2	1	2	6	1	4	1	6	1	2	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:77440035C>G	ENST00000322886.7	-	5	847	c.612G>C	c.(610-612)aaG>aaC	p.K204N	E2F7_ENST00000416496.2_Missense_Mutation_p.K204N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	204					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CATACTGATTCTTAGCCACCC	0.512																																																	0													97	94	95					12																	77440035		2203	4300	6503	SO:0001583	missense	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.612G>C	12.37:g.77440035C>G	ENSP00000323246:p.Lys204Asn		A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.K204N	ENST00000322886.7	37	c.612	CCDS9016.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.953458|3.953458	0.73902|0.73902	.|.	.|.	ENSG00000165891|ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669|ENST00000551058	T;T;T|.	0.48522|.	1.03;0.81;0.85|.	6.17|6.17	4.06|4.06	0.47325|0.47325	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81098|0.81098	0.4752|0.4752	M|M	0.93898|0.93898	3.47|3.47	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	D|D	0.85190|0.85190	0.1009|0.1009	10|5	0.87932|.	D|.	0|.	-25.7523|-25.7523	10.8953|10.8953	0.47019|0.47019	0.0:0.7824:0.0:0.2176|0.0:0.7824:0.0:0.2176	.|.	204;204|.	F8VSE7;Q96AV8|.	.;E2F7_HUMAN|.	N|T	204|82	ENSP00000323246:K204N;ENSP00000393639:K204N;ENSP00000448245:K204N|.	ENSP00000323246:K204N|.	K|R	-|-	3|2	2|0	E2F7|E2F7	75964166|75964166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.022000|1.022000	0.30052|0.30052	1.627000|1.627000	0.50400|0.50400	0.655000|0.655000	0.94253|0.94253	AAG|AGA	E2F7	-	pfam_E2F_TDP	ENSG00000165891		0.512	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	-	0	78	0	C	XM_084871		77440035	-1	tier1	-	no_errors	ENST00000322886	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	G	G	77440035	C	G	77440035	3	3	105	1	0	0	0	0	1	0	0	0	4886	912	32	5	2159	5	E2F7	12	77440035	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	20903409	77440035	56411860	129	29150											
CEP290	80184	genome.wustl.edu	37	chr12	88474063	88474063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttctttttgagcctgaaGttcagattttaaacactgtg	9	17	8	7	0	2	3	1	2	1	1	2	3	2	3	1	0	3	2	1	0	3	6			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:88474063G>A	ENST00000552810.1	-	38	5465	c.5122C>T	c.(5122-5124)Ctt>Ttt	p.L1708F	CEP290_ENST00000547691.2_Missense_Mutation_p.L768F|CEP290_ENST00000397838.3_Missense_Mutation_p.L768F|CEP290_ENST00000309041.7_Missense_Mutation_p.L1710F	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1708					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGAGCCTGAAGTTCAGATTTT	0.373																																																	0													184	160	168					12																	88474063		1838	4086	5924	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5122C>T	12.37:g.88474063G>A	ENSP00000448012:p.Leu1708Phe		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.L1710F	ENST00000552810.1	37	c.5128	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581281	0.65992	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	4.81	0.363	0.16118	.	0.305886	0.30639	N	0.009182	D	0.90868	0.7131	L	0.55481	1.735	0.46113	D	0.998875	D	0.56287	0.975	P	0.55455	0.776	D	0.86635	0.1888	10	0.49607	T	0.09	.	5.0819	0.14661	0.0734:0.1935:0.4992:0.2338	.	1708	O15078	CE290_HUMAN	F	768;1708;1710;768	ENSP00000446905:L768F;ENSP00000448012:L1708F;ENSP00000308021:L1710F;ENSP00000380938:L768F	ENSP00000308021:L1710F	L	-	1	0	CEP290	86998194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.051000	0.30417	0.113000	0.18004	0.557000	0.71058	CTT	CEP290	-	NULL	ENSG00000198707		0.373	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0	99	0	G	NM_025114		88474063	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	9.43	48	5	SNP	1.000	A	A	88474063	G	A	88474063	3	1	105	1	0	0	0	0	1	0	0	0	3260	1029	36	3	2385	3	CEP290	12	88474063	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	11034028	88474063	45377832	130	29151											
LRRC43	254050	genome.wustl.edu	37	chr12	122677396	122677396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaggttactgaagaggtCgaagggtctctggagtctga	11	9	16	5	1	2	4	0	2	2	2	4	7	2	5	0	4	1	1	0	4	4	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr12:122677396C>T	ENST00000339777.4	+	7	1222	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	LRRC43_ENST00000425921.1_Silent_p.V213V	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	398	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTGAAGAGGTCGAAGGGTCTC	0.532																																																	0													98	105	103					12																	122677396		2084	4235	6319	SO:0001819	synonymous_variant	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1194C>T	12.37:g.122677396C>T			Q6ZVT9	Silent	SNP	NULL	p.V398	ENST00000339777.4	37	c.1194	CCDS45001.1	12																																																																																			LRRC43	-	NULL	ENSG00000158113		0.532	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1		0	66	0	C	NM_152759		122677396	1			no_errors	ENST00000339777	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.000	T	T	122677396	C	T	122677396	2	4	105	1	0	0	0	0	0	0	0	1	9036	871	31	1		1	LRRC43	12	122677396	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	34203333	122677396	11174499	131	29152											
MTUS2	23281	genome.wustl.edu	37	chr13	29600389	29600389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagagaatgcagataaGattgaaagcacctcagcaag	16	8	9	8	0	2	4	1	1	1	3	2	5	2	4	1	0	3	3	1	0	5	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:29600389G>T	ENST00000431530.3	+	1	1642	c.1584G>T	c.(1582-1584)aaG>aaT	p.K528N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	518						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATGCAGATAAGATTGAAAGCA	0.502																																																	0													86	89	88					13																	29600389		1991	4179	6170	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1584G>T	13.37:g.29600389G>T	ENSP00000392057:p.Lys528Asn		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.K528N	ENST00000431530.3	37	c.1584	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	12.09	1.832391	0.32421	.	.	ENSG00000132938	ENST00000431530	T	0.13538	2.58	5.92	4.1	0.47936	.	0.870924	0.09902	N	0.740953	T	0.12263	0.0298	L	0.36672	1.1	0.21256	N	0.999741	P	0.41848	0.763	B	0.39185	0.293	T	0.20273	-1.0280	9	.	.	.	.	8.7776	0.34771	0.1746:0.0:0.8254:0.0	.	518	Q5JR59	MTUS2_HUMAN	N	528	ENSP00000392057:K528N	.	K	+	3	2	MTUS2	28498389	0.009000	0.17119	0.008000	0.14137	0.068000	0.16541	0.950000	0.29122	0.751000	0.32900	0.655000	0.94253	AAG	MTUS2	-	NULL	ENSG00000132938		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3		0	42	0	G	XM_166270		29600389	1			no_errors	ENST00000431530	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.029	T	T	29600389	G	T	29600389	3	4	105	1	0	0	0	0	1	0	0	0	10004	933	33	3	1586	3	MTUS2	13	29600389	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		29600389	85569489	132	29153											
AKAP11	11215	genome.wustl.edu	37	chr13	42876108	42876108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatactttctcatctacaGcacttacctgtgtagatggt	10	14	6	11	0	2	1	1	0	2	1	3	1	2	1	1	1	4	2	1	1	4	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:42876108G>T	ENST00000025301.2	+	8	3401	c.3226G>T	c.(3226-3228)Gca>Tca	p.A1076S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1076					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CTCATCTACAGCACTTACCTG	0.403																																																	0													157	148	151					13																	42876108		2203	4300	6503	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"A-kinase anchor proteins", "Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	369	protein-coding gene	gene with protein product	"AKAP 220", "A-kinase anchoring protein, 220kDa", "protein kinase A anchoring protein 11", "protein phosphatase 1, regulatory subunit 44"	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.3226G>T	13.37:g.42876108G>T	ENSP00000025301:p.Ala1076Ser		O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.A1076S	ENST00000025301.2	37	c.3226	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	2.738	-0.262939	0.05754	.	.	ENSG00000023516	ENST00000025301	T	0.13778	2.56	5.8	4.91	0.64330	.	0.267312	0.30293	N	0.009956	T	0.08492	0.0211	N	0.22421	0.69	0.20638	N	0.999873	B	0.15141	0.012	B	0.10450	0.005	T	0.13602	-1.0503	10	0.66056	D	0.02	.	4.3972	0.11369	0.1478:0.0:0.5135:0.3387	.	1076	Q9UKA4	AKA11_HUMAN	S	1076	ENSP00000025301:A1076S	ENSP00000025301:A1076S	A	+	1	0	AKAP11	41774108	0.913000	0.31002	1.000000	0.80357	0.235000	0.25334	1.368000	0.34216	2.744000	0.94065	0.655000	0.94253	GCA	AKAP11	-	NULL	ENSG00000023516		0.403	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	-	0	54	0	G	NM_016248		42876108	1	tier1	-	no_errors	ENST00000025301	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.819	T	T	42876108	G	T	42876108	3	4	105	1	0	0	0	0	1	0	0	0	447	971	34	3	3248	3	AKAP11	13	42876108	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	13275719	42876108	72293770	133	29154											
CYSLTR2	57105	genome.wustl.edu	37	chr13	49281211	49281211	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccatttcagatctcctGttcataagcacgcttccctt	7	14	6	14	1	3	1	2	0	1	1	5	1	4	1	3	1	1	3	3	1	1	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:49281211G>T	ENST00000282018.3	+	1	261	c.258G>T	c.(256-258)ctG>ctT	p.L86L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	86					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CAGATCTCCTGTTCATAAGCA	0.428																																																	0													92	89	90					13																	49281211		2203	4300	6503	SO:0001819	synonymous_variant	0			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"GPCR / Class A : Leukotriene receptors"	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.258G>T	13.37:g.49281211G>T			Q9HCQ2	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_Protea_act_rcpt	p.L86	ENST00000282018.3	37	c.258	CCDS9412.1	13																																																																																			CYSLTR2	-	pfam_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000152207		0.428	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	-	0	40	0	G			49281211	1	tier1	-	no_errors	ENST00000282018	ensembl	human	known	74_37	silent	10.71	25	3	SNP	0.992	T	T	49281211	G	T	49281211	2	4	105	1	0	0	0	0	0	0	0	1	4211	1364	48	3		3	CYSLTR2	13	49281211	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	6405103	49281211	65888667	134	29155											
WDFY2	115825	genome.wustl.edu	37	chr13	52333896	52333896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgggatatgaccccagtCgtgtcttgatgactctccca	7	13	10	11	1	2	3	0	3	2	0	4	4	2	4	3	1	0	0	3	1	1	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:52333896C>T	ENST00000298125.5	+	12	1374	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	398							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		TGACCCCAGTCGTGTCTTGAT	0.373																																																	0													65	64	64					13																	52333896		2203	4300	6503	SO:0001819	synonymous_variant	0			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"Zinc fingers, FYVE domain containing", "WD repeat domain containing"	20482	protein-coding gene	gene with protein product		610418	"WD40 and FYVE domain containing 2"				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.1194C>T	13.37:g.52333896C>T			B1AL86|Q96CS1	Silent	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V398	ENST00000298125.5	37	c.1194	CCDS9429.1	13																																																																																			WDFY2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000139668		0.373	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3		0	52	0	C	NM_052950		52333896	1			no_errors	ENST00000298125	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.002	T	T	52333896	C	T	52333896	2	4	105	1	0	0	0	0	0	0	0	1	17318	871	31	1		1	WDFY2	13	52333896	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	3052685	52333896	62835982	135	29156											
F7	2155	genome.wustl.edu	37	chr13	113765088	113765088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaggagctgcggccgggctCcctggagagggagtgcaagg	7	4	21	9	2	0	1	0	0	0	1	1	5	1	4	2	7	3	3	2	7	1	0	rs546856641		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr13:113765088C>G	ENST00000375581.3	+	3	250	c.215C>G	c.(214-216)tCc>tGc	p.S72C	F7_ENST00000541084.1_Intron|F7_ENST00000473085.1_3'UTR|F7_ENST00000346342.3_Missense_Mutation_p.S50C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	72	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGGCCGGGCTCCCTGGAGAGG	0.692													C|||	1	0.000199681	0	0	5008	,	,		12711	0		0	False		,,,				2504	0.001																0													15	12	13					13																	113765088		2084	4122	6206	SO:0001583	missense	0				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"eptacog alfa", "FVII coagulation protein", "factor VII"	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.215C>G	13.37:g.113765088C>G	ENSP00000364731:p.Ser72Cys		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.S72C	ENST00000375581.3	37	c.215	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	c	13.65	2.301966	0.40694	.	.	ENSG00000057593	ENST00000346342;ENST00000375581	D;D	0.99201	-5.55;-5.55	4.47	1.54	0.23209	Gamma-carboxyglutamic acid-rich (GLA) domain (5);Coagulation factor, subgroup, Gla domain (1);	0.239141	0.35525	N	0.003147	D	0.99048	0.9674	M	0.88570	2.965	0.09310	N	0.999998	D;D	0.76494	0.998;0.999	D;D	0.69479	0.912;0.964	D	0.96345	0.9254	10	0.87932	D	0	.	7.0861	0.25257	0.4365:0.4841:0.0:0.0794	.	50;72	P08709-2;P08709	.;FA7_HUMAN	C	50;72	ENSP00000329546:S50C;ENSP00000364731:S72C	ENSP00000329546:S50C	S	+	2	0	F7	112813089	0.000000	0.05858	0.059000	0.19551	0.478000	0.33099	0.454000	0.21827	0.312000	0.23038	0.503000	0.49774	TCC	F7	-	pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	ENSG00000057593		0.692	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	-	0	58	0	C	NM_000131		113765088	1	tier1	-	no_errors	ENST00000375581	ensembl	human	known	74_37	missense	23.33	23	7	SNP	0.022	G	G	113765088	C	G	113765088	3	3	105	1	0	0	0	0	1	0	0	0	5365	855	30	5	225	5	F7	13	113765088	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	61431192	113765088	1404790	136	29157											
SLC7A7	9056	genome.wustl.edu	37	chr14	23245096	23245096	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaacaggataatgcaactGacagtggaattatccagtta	17	9	8	7	0	0	1	0	1	0	0	1	3	1	3	1	2	3	2	1	2	7	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:23245096G>C	ENST00000397532.3	-	6	1469	c.944C>G	c.(943-945)tCa>tGa	p.S315*	SLC7A7_ENST00000555702.1_Nonsense_Mutation_p.S315*|SLC7A7_ENST00000285850.7_Nonsense_Mutation_p.S315*|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Nonsense_Mutation_p.S315*|SLC7A7_ENST00000554517.1_Nonsense_Mutation_p.S49*|SLC7A7_ENST00000397529.2_Nonsense_Mutation_p.S315*			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	315					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TAATGCAACTGACAGTGGAAT	0.413																																																	0													133	138	136					14																	23245096		2203	4300	6503	SO:0001587	stop_gained	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.944C>G	14.37:g.23245096G>C	ENSP00000380666:p.Ser315*		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Nonsense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.S315*	ENST00000397532.3	37	c.944	CCDS9574.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.003798|9.003798	0.99033|0.99033	.|.	.|.	ENSG00000155465|ENSG00000155465	ENST00000556350|ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.050554	.|0.85682	.|D	.|0.000000	T|.	0.66167|.	0.2762|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.55798|.	-0.8084|.	3|.	.|0.15499	.|T	.|0.54	.|.	19.4349|19.4349	0.94788|0.94788	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	30|315;315;315;288;315;315;49	.|.	.|ENSP00000285850:S315X	Q|S	-|-	1|2	0|0	SLC7A7|SLC7A7	22314936|22314936	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.889000|0.889000	0.51656|0.51656	9.405000|9.405000	0.97313|0.97313	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SLC7A7	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000155465		0.413	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	-	0	36	0	G			23245096	-1	tier1	-	no_errors	ENST00000285850	ensembl	human	known	74_37	nonsense	22.22	14	4	SNP	1.000	C	C	23245096	G	C	23245096	4	2	105	1	0	0	0	0	0	1	0	0	14748	1294	45	5	611	5	SLC7A7	14	23245096	Nonsense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		23245096	84104444	137	29158											
PLEKHG3	26030	genome.wustl.edu	37	chr14	65210415	65210415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaggccttgaactctgtCggttgatgctgactcctggg	5	13	12	11	1	1	3	0	3	1	0	4	3	3	3	3	3	2	2	3	3	1	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:65210415C>T	ENST00000394691.1	+	17	3801	c.3654C>T	c.(3652-3654)gtC>gtT	p.V1218V	PLEKHG3_ENST00000471182.2_Silent_p.V751V|PLEKHG3_ENST00000484731.2_Silent_p.V723V|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000247226.7_Silent_p.V1162V			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1218							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGAACTCTGTCGGTTGATGCT	0.612																																																	0													27	24	25					14																	65210415		2187	4262	6449	SO:0001819	synonymous_variant	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.3654C>T	14.37:g.65210415C>T			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V1218	ENST00000394691.1	37	c.3654		14																																																																																			PLEKHG3	-	NULL	ENSG00000126822		0.612	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	-	0	53	0	C	NM_015549		65210415	1	tier1	-	no_errors	ENST00000394691	ensembl	human	known	74_37	silent	19.51	33	8	SNP	0.001	T	T	65210415	C	T	65210415	2	4	105	1	0	0	0	0	0	0	0	1	12109	871	31	1		1	PLEKHG3	14	65210415	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	41965319	65210415	42139125	138	29159											
NRXN3	9369	genome.wustl.edu	37	chr14	79434617	79434617	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtctagcatcagtggacTtgaatggacgcctgccagac	9	9	12	11	1	2	2	1	1	1	1	2	4	2	4	2	2	2	2	2	2	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:79434617T>C	ENST00000554719.1	+	11	2442	c.1951T>C	c.(1951-1953)Ttg>Ctg	p.L651L	NRXN3_ENST00000335750.5_Silent_p.L651L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	257					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGTGGACTTGAATGGACG	0.512																																																	0													136	117	123					14																	79434617		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1951T>C	14.37:g.79434617T>C			A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1013	ENST00000554719.1	37	c.3037	CCDS9870.1	14																																																																																			NRXN3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000021645		0.512	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413787.1	-	0	84	0	T	NM_001105250		79434617	1	tier1	-	no_errors	ENST00000554738	ensembl	human	known	74_37	silent	13.21	46	7	SNP	1.000	C	C	79434617	T	C	79434617	2	2	105	1	0	0	0	0	0	0	0	1	10706	1606	56	4		4	NRXN3	14	79434617	Silent	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	14224202	79434617	27914923	139	29160											
STON2	85439	genome.wustl.edu	37	chr14	81744226	81744227	+	Nonsense_Mutation	DNP	CC	CC	AA																															tgaaatctcatgacagatctCcagcttgaactcacggaatg																										TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:81744226_81744227CC>AA	ENST00000267540.2	-	4	1628_1629	c.1428_1429GG>TT	c.(1426-1431)ctGGag>ctTTag	p.E477*	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Nonsense_Mutation_p.E477*	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	477	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGACAGATCTCCAGCTTGAACT	0.48																																																	0																																										SO:0001587	stop_gained	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"stoned B homolog 2 (Drosophila)"	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1428_1429delinsAA	14.37:g.81744226_81744227delinsAA	ENSP00000267540:p.Glu477*		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Nonsense_Mutation|Silent	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.E477*|p.L476	ENST00000267540.2	37	c.1429|c.1428	CCDS9875.1	14																																																																																			STON2	-	pirsf_Stonin,pfscan_SHD	ENSG00000140022		0.48	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	-	0	50	0	C	NM_033104		81744226|81744227	-1	tier1	-	no_errors	ENST00000267540	ensembl	human	known	74_37	nonsense|silent	9.26	49	5	SNP	1.000|0.998	A	AA	81744227	CC	AA	81744226	4	1	105	1	0	0	0	0	0	1	0	0	15365	864	30	3	1294	3	STON2	14	81744226	Nonsense_Mutation	DNP	CC	TCGA-LN-A49S-01A-11D-A247-09	2309609	81744226	25605314	140	29161											
RAGE	5891	genome.wustl.edu	37	chr14	102732205	102732205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgggtgcggattcaggCgcctcagtgcttggatctct	4	14	14	9	2	3	0	2	0	1	0	4	2	3	2	1	4	2	2	1	4	0	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr14:102732205C>T	ENST00000361847.2	-	3	398	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.R56H|MOK_ENST00000524214.1_Intron	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	56	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										CGGATTCAGGCGCCTCAGTGC	0.363																																																	0													150	141	144					14																	102732205		2203	4300	6503	SO:0001583	missense	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.167G>A	14.37:g.102732205C>T	ENSP00000355304:p.Arg56His		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R56H	ENST00000361847.2	37	c.167	CCDS9971.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084796	0.76642	.	.	ENSG00000080823	ENST00000522874;ENST00000361847	T;T	0.66638	-0.22;-0.22	5.66	3.82	0.43975	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120882	0.52532	D	0.000061	T	0.71350	0.3329	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.72124	-0.4385	10	0.87932	D	0	-8.189	10.6312	0.45538	0.1322:0.7985:0.0:0.0692	.	56	Q9UQ07	MOK_HUMAN	H	56	ENSP00000429469:R56H;ENSP00000355304:R56H	ENSP00000355304:R56H	R	-	2	0	RAGE	101801958	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	4.515000	0.60489	0.729000	0.32403	0.655000	0.94253	CGC	MOK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000080823		0.363	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	HGNC	protein_coding	OTTHUMT00000380848.3	-	0	63	0	C			102732205	-1	tier1	-	no_errors	ENST00000361847	ensembl	human	known	74_37	missense	21.84	68	19	SNP	1.000	T	T	102732205	C	T	102732205	3	4	105	1	0	0	0	0	1	0	0	0	13051	768	27	1	1132	1	RAGE	14	102732205	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	20987979	102732205	4617335	141	29162											
TJP1	7082	genome.wustl.edu	37	chr15	30012102	30012102	+	Frame_Shift_Del	DEL	G	G	-																															agtaagaggtggaaggagctGgggtgggctcctccagtctg																										TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:30012102delG	ENST00000346128.6	-	20	3356	c.2882delC	c.(2881-2883)ccafs	p.P961fs	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000400011.2_Intron|TJP1_ENST00000356107.6_Frame_Shift_Del_p.P961fs	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	961					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGAAGGAGCTGGGGTGGGCTC	0.448																																					Melanoma(77;681 1843 6309 6570)												0													138	134	136					15																	30012102		1924	4122	6046	SO:0001589	frameshift_variant	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2882delC	15.37:g.30012102delG	ENSP00000281537:p.Pro961fs		B4E3K1|Q2NKP3|Q4ZGJ6	Frame_Shift_Del	DEL	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.P961fs	ENST00000346128.6	37	c.2882	CCDS42007.1	15																																																																																			TJP1	-	NULL	ENSG00000104067		0.448	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3		0	85	0	G	NM_003257		30012102	-1	tier1		no_errors	ENST00000346128	ensembl	human	known	74_37	frame_shift_del	28.57	35	14	DEL	0.342	-	-	30012102	G	-	30012102	7	5	105	1	0	1	0	1	0	0	0	0	15976	1348	47	0	2400	0	TJP1	15	30012102	Frame_Shift_Del	DEL	G	TCGA-LN-A49S-01A-11D-A247-09		30012102	72519290	142	29163											
GREM1	26585	genome.wustl.edu	37	chr15	33022942	33022942	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcttctcctcttggggacCctgctgccggctgctgaagg	3	11	13	14	1	2	1	0	1	2	0	3	2	2	2	3	4	4	4	3	4	1	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:33022942C>G	ENST00000300177.4	+	2	240	c.51C>G	c.(49-51)acC>acG	p.T17T	GREM1_ENST00000560830.1_Silent_p.T17T|GREM1_ENST00000322805.4_Silent_p.T17T|GREM1_ENST00000560677.1_Silent_p.T17T	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	17					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell morphogenesis (GO:0000902)|collagen fibril organization (GO:0030199)|determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone mineralization (GO:0030502)|negative regulation of bone mineralization involved in bone maturation (GO:1900158)|negative regulation of bone remodeling (GO:0046851)|negative regulation of bone trabecula formation (GO:1900155)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine autophosphorylation (GO:1900086)|positive regulation of receptor activity (GO:2000273)|positive regulation of receptor internalization (GO:0002092)|positive regulation of telomerase activity (GO:0051973)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|regulation of epithelial to mesenchymal transition (GO:0010717)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|receptor agonist activity (GO:0048018)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		TCTTGGGGACCCTGCTGCCGG	0.577																																																	0													25	28	27					15																	33022942		2166	4241	6407	SO:0001819	synonymous_variant	0				CCDS10029.1, CCDS53927.1	15q13.3	2014-02-07	2013-02-26	2004-05-07	ENSG00000166923	ENSG00000166923			2001	protein-coding gene	gene with protein product		603054	"cysteine knot superfamily 1, BMP antagonist 1", "gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 1", "colorectal adenoma and carcinoma 1"	CKTSF1B1, CRAC1		9660951, 10026205, 22561515	Standard	NM_013372		Approved	DRM, gremlin, DAND2, HMPS	uc001zhe.2	O60565	OTTHUMG00000129319	ENST00000300177.4:c.51C>G	15.37:g.33022942C>G			Q52LV3|Q8N914|Q8N936	Silent	SNP	pfam_DAN,smart_Cys_knot_C,pirsf_Gremlin_precursor	p.T17	ENST00000300177.4	37	c.51	CCDS10029.1	15																																																																																			GREM1	-	pirsf_Gremlin_precursor	ENSG00000166923		0.577	GREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM1	HGNC	protein_coding	OTTHUMT00000251455.2	-	0	31	0	C	NM_013372		33022942	1	tier1	-	no_errors	ENST00000300177	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.998	G	G	33022942	C	G	33022942	2	3	105	1	0	0	0	0	0	0	0	1	6788	610	22	5		5	GREM1	15	33022942	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	3010840	33022942	69508450	143	29164											
IVD	3712	genome.wustl.edu	37	chr15	40703768	40703768	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaggaaatcactacatcCtgaatggcaacaagttctgg	13	10	8	10	0	2	1	1	1	1	0	3	2	3	2	2	3	2	2	2	3	6	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:40703768C>T	ENST00000249760.2	+	6	908	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	IVD_ENST00000487418.2_Silent_p.L192L|IVD_ENST00000479013.2_Silent_p.L162L	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	189					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	TCACTACATCCTGAATGGCAA	0.517																																					GBM(31;293 617 7486 32527 34655)												0													94	77	83					15																	40703768		2203	4300	6503	SO:0001819	synonymous_variant	0			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"isovaleryl Coenzyme A dehydrogenase", "isovaleryl CoA dehydrogenase"			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.565C>T	15.37:g.40703768C>T			B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Silent	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.L192	ENST00000249760.2	37	c.574		15																																																																																			IVD	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000128928		0.517	IVD-201	KNOWN	basic|appris_candidate	protein_coding	IVD	HGNC	protein_coding		-	0	78	0	C			40703768	1	tier1	-	no_errors	ENST00000487418	ensembl	human	known	74_37	silent	13.33	52	8	SNP	1.000	T	T	40703768	C	T	40703768	2	4	105	1	0	0	0	0	0	0	0	1	7955	680	24	3		3	IVD	15	40703768	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	7680826	40703768	61827624	144	29165											
VPS39	23339	genome.wustl.edu	37	chr15	42470518	42470518	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacaaaatgattgctggcCacatagataatgtttgatct	15	12	7	7	0	1	3	0	2	1	1	1	3	1	3	1	1	2	2	1	1	5	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:42470518C>A	ENST00000348544.4	-	11	890	c.891G>T	c.(889-891)gtG>gtT	p.V297V	VPS39_ENST00000318006.5_Silent_p.V286V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	297					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GATTGCTGGCCACATAGATAA	0.423																																																	0													110	108	109					15																	42470518		2203	4299	6502	SO:0001819	synonymous_variant	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"vacuolar protein sorting 39 (yeast)"			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.891G>T	15.37:g.42470518C>A			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.V297	ENST00000348544.4	37	c.891	CCDS10083.1	15																																																																																			VPS39	-	smart_Citron	ENSG00000166887		0.423	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	-	0	32	0	C	NM_015289		42470518	-1	tier1	-	no_errors	ENST00000348544	ensembl	human	known	74_37	silent	38.10	13	8	SNP	1.000	A	A	42470518	C	A	42470518	2	1	105	1	0	0	0	0	0	0	0	1	17258	581	21	3		3	VPS39	15	42470518	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	1766750	42470518	60060874	145	29166											
LEO1	123169	genome.wustl.edu	37	chr15	52258503	52258503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcagaagcttctgatctaTtgtctgatctttcagagtga	9	15	9	8	0	6	5	2	3	4	2	6	5	6	5	0	0	1	2	0	0	2	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:52258503T>C	ENST00000299601.5	-	2	317	c.257A>G	c.(256-258)aAt>aGt	p.N86S	LEO1_ENST00000315141.5_Missense_Mutation_p.N86S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	86	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TTCTGATCTATTGTCTGATCT	0.448																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													208	188	194					15																	52258503		2195	4293	6488	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.257A>G	15.37:g.52258503T>C	ENSP00000299601:p.Asn86Ser		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.N86S	ENST00000299601.5	37	c.257	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	T	16.91	3.251575	0.59212	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.59	5.59	0.84812	.	0.044847	0.85682	D	0.000000	T	0.64962	0.2646	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.77557	0.99;0.97	T	0.60031	-0.7342	9	0.19147	T	0.46	.	15.771	0.78167	0.0:0.0:0.0:1.0	.	86;86	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	S	86	.	ENSP00000299601:N86S	N	-	2	0	LEO1	50045795	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.503000	0.81632	2.123000	0.65237	0.533000	0.62120	AAT	LEO1	-	NULL	ENSG00000166477		0.448	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	-	0	63	0	T	NM_138792		52258503	-1	tier1	-	no_errors	ENST00000299601	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	C	C	52258503	T	C	52258503	3	2	105	1	0	0	0	0	1	0	0	0	8754	1493	52	4	1787	4	LEO1	15	52258503	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	9787985	52258503	50272889	146	29167											
ZNF609	23060	genome.wustl.edu	37	chr15	64966881	64966881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttatccaatgatggctctGatgatggaccctcagtgatg	9	12	10	10	0	2	4	1	4	1	0	3	5	3	5	3	2	0	1	3	2	2	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:64966881G>C	ENST00000326648.3	+	4	1956	c.1828G>C	c.(1828-1830)Gat>Cat	p.D610H	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	610						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGATGGCTCTGATGATGGACC	0.423																																																	0													58	59	59					15																	64966881		2203	4299	6502	SO:0001583	missense	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"Zinc fingers, C2H2-type"	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1828G>C	15.37:g.64966881G>C	ENSP00000316527:p.Asp610His		Q0D2I2	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.D610H	ENST00000326648.3	37	c.1828	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308374	0.40895	.	.	ENSG00000180357	ENST00000326648	T	0.43688	0.94	5.77	5.77	0.91146	.	0.087685	0.85682	D	0.000000	T	0.29028	0.0721	N	0.08118	0	0.49213	D	0.999767	P	0.35656	0.514	B	0.34779	0.189	T	0.14783	-1.0460	10	0.46703	T	0.11	-13.6147	19.9915	0.97366	0.0:0.0:1.0:0.0	.	610	O15014	ZN609_HUMAN	H	610	ENSP00000316527:D610H	ENSP00000316527:D610H	D	+	1	0	ZNF609	62753934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.622000	0.74233	2.723000	0.93209	0.655000	0.94253	GAT	ZNF609	-	NULL	ENSG00000180357		0.423	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1		0	15	0	G	XM_042833		64966881	1			no_errors	ENST00000326648	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	C	C	64966881	G	C	64966881	3	2	105	1	0	0	0	0	1	0	0	0	18083	1290	45	5	1842	5	ZNF609	15	64966881	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	12708378	64966881	37564511	147	29168											
SCAPER	49855	genome.wustl.edu	37	chr15	76673829	76673829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgggactggcagtgctggGgtccaagatggtgccatgga	7	9	17	8	0	0	1	0	0	0	1	1	3	1	3	2	6	2	2	2	6	1	1	rs571029771		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:76673829G>T	ENST00000563290.1	-	28	3690	c.3595C>A	c.(3595-3597)Ccc>Acc	p.P1199T	SCAPER_ENST00000538941.2_Missense_Mutation_p.P953T|SCAPER_ENST00000324767.7_Missense_Mutation_p.P1199T			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1199						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCAGTGCTGGGGTCCAAGATG	0.517																																																	0													88	88	88					15																	76673829		1962	4146	6108	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"Zinc fingers, C2H2-type"	13081	protein-coding gene	gene with protein product		611611	"zinc finger protein 291"	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3595C>A	15.37:g.76673829G>T	ENSP00000454973:p.Pro1199Thr		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.P1199T	ENST00000563290.1	37	c.3595	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565189	0.27915	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25414	1.83;1.8	5.61	2.66	0.31614	.	0.410756	0.27284	N	0.020066	T	0.24275	0.0588	L	0.60455	1.87	0.30767	N	0.743479	B;B	0.25312	0.075;0.123	B;B	0.26969	0.034;0.075	T	0.17410	-1.0370	10	0.54805	T	0.06	.	8.2682	0.31827	0.1429:0.1347:0.7225:0.0	.	1198;953	Q9BY12;F5H7X8	SCAPE_HUMAN;.	T	1199;953;1221	ENSP00000326924:P1199T;ENSP00000442190:P953T	ENSP00000303560:P1221T	P	-	1	0	SCAPER	74460884	1.000000	0.71417	0.940000	0.37924	0.577000	0.36160	1.498000	0.35660	0.692000	0.31613	0.650000	0.86243	CCC	SCAPER	-	NULL	ENSG00000140386		0.517	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	-	0	51	0	G	NM_020843		76673829	-1	tier1	-	no_errors	ENST00000324767	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.998	T	T	76673829	G	T	76673829	3	4	105	1	0	0	0	0	1	0	0	0	13923	1232	43	3	627	3	SCAPER	15	76673829	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	11706948	76673829	25857563	148	29169											
CHRNA5	1138	genome.wustl.edu	37	chr15	78882187	78882187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagtacgaaaacagtcAtcaggtacaatggcactgtc	14	7	10	10	1	2	0	2	0	0	0	3	2	2	1	1	3	3	3	1	3	5	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr15:78882187A>T	ENST00000299565.5	+	5	654	c.454A>T	c.(454-456)Atc>Ttc	p.I152F	CHRNA5_ENST00000559554.1_Missense_Mutation_p.I152F|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	152					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	GAAAACAGTCATCAGGTACAA	0.393																																																	0													166	145	152					15																	78882187		2196	4293	6489	SO:0001583	missense	0				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1959	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 5 (neuronal)"	118505	"cholinergic receptor, nicotinic, alpha polypeptide 5"			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.454A>T	15.37:g.78882187A>T	ENSP00000299565:p.Ile152Phe		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.I152F	ENST00000299565.5	37	c.454	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	A	14.08	2.427301	0.43122	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.81739	-1.53	5.37	1.4	0.22301	Neurotransmitter-gated ion-channel ligand-binding (3);	0.163400	0.53938	D	0.000050	T	0.81884	0.4917	M	0.88775	2.98	0.35231	D	0.776883	B	0.30068	0.267	B	0.32289	0.143	T	0.82289	-0.0531	10	0.87932	D	0	.	10.5531	0.45101	0.2622:0.0:0.7378:0.0	.	152	P30532	ACHA5_HUMAN	F	152;103	ENSP00000299565:I152F	ENSP00000299565:I152F	I	+	1	0	CHRNA5	76669242	1.000000	0.71417	0.181000	0.23098	0.697000	0.40408	4.126000	0.57937	0.081000	0.16988	-1.836000	0.00589	ATC	CHRNA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000169684		0.393	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	-	0	92	0	A			78882187	1	tier1	-	no_errors	ENST00000299565	ensembl	human	known	74_37	missense	14.63	70	12	SNP	0.976	T	T	78882187	A	T	78882187	3	4	105	1	0	0	0	0	1	0	0	0	3393	217	8	5	472	5	CHRNA5	15	78882187	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	2208358	78882187	23649205	149	29170											
NLRC3	197358	genome.wustl.edu	37	chr16	3607659	3607659	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctttggcccctttgttactGatctggttctccgccaagct	4	15	9	13	1	2	1	0	1	2	0	3	1	2	1	4	2	2	4	4	2	2	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:3607659G>A	ENST00000301749.7	-	0	2439				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTGTTACTGATCTGGTTCT	0.512																																																	0													81	78	79					16																	3607659		1984	4158	6142			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3607659G>A			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.I725	ENST00000301749.7	37	c.2175		16																																																																																			NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.512	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0	58	0	G	NM_178844		3607659	-1	tier1	-	no_errors	ENST00000448023	ensembl	human	known	74_37	silent	16.00	42	8	SNP	0.977	A	A	3607659	G	A	3607659	1	1	105	0	1	0	0	0	0	0	0	0	10507	1280	45	3		3	NLRC3	16	3607659	RNA	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		3607659	86747094	150	29171											
DNAJA3	9093	genome.wustl.edu	37	chr16	4493076	4493076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaggagatgtggtggccGcggctccatcatcatatcgc	7	10	14	10	3	2	1	2	0	0	1	4	2	3	1	2	4	0	2	2	4	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:4493076G>A	ENST00000262375.6	+	6	919	c.842G>A	c.(841-843)cGc>cAc	p.R281H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.R281H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.R128H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	281					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TGTGGTGGCCGCGGCTCCATC	0.517																																																	0													104	85	91					16																	4493076		2197	4300	6497	SO:0001583	missense	0			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.842G>A	16.37:g.4493076G>A	ENSP00000262375:p.Arg281His		B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.R281H	ENST00000262375.6	37	c.842	CCDS10515.1	16	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122734	0.56613	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.64618	-0.11;-0.11;0.89	5.92	4.96	0.65561	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.052867	0.64402	D	0.000001	T	0.49898	0.1584	L	0.42686	1.345	0.47153	D	0.99933	P;B;B	0.34724	0.465;0.286;0.175	B;B;B	0.26202	0.067;0.035;0.041	T	0.56475	-0.7973	10	0.87932	D	0	-9.3518	10.8646	0.46847	0.1435:0.0:0.8565:0.0	.	128;281;281	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	H	281;281;128	ENSP00000262375:R281H;ENSP00000347445:R281H;ENSP00000393970:R128H	ENSP00000262375:R281H	R	+	2	0	DNAJA3	4433077	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	4.611000	0.61162	2.804000	0.96469	0.655000	0.94253	CGC	DNAJA3	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000103423		0.517	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	HGNC	protein_coding	OTTHUMT00000251633.1	-	0	76	0	G			4493076	1	tier1	-	no_errors	ENST00000262375	ensembl	human	known	74_37	missense	8.25	89	8	SNP	0.968	A	A	4493076	G	A	4493076	3	1	105	1	0	0	0	0	1	0	0	0	4627	1087	38	1	864	1	DNAJA3	16	4493076	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	885417	4493076	85861677	151	29172											
XYLT1	64131	genome.wustl.edu	37	chr16	17202585	17202585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaggtttgactgccccCagctccgacttggggtcagg	6	9	12	14	1	2	1	2	1	0	0	3	2	3	1	4	4	2	2	4	4	0	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:17202585C>T	ENST00000261381.6	-	12	2931	c.2847G>A	c.(2845-2847)ctG>ctA	p.L949L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	949					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGACTGCCCCCAGCTCCGACT	0.662																																																	0													23	21	22					16																	17202585		2196	4300	6496	SO:0001819	synonymous_variant	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"	15516	protein-coding gene	gene with protein product	"protein xylosyltransferase 1"	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2847G>A	16.37:g.17202585C>T			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.L949	ENST00000261381.6	37	c.2847	CCDS10569.1	16																																																																																			XYLT1	-	NULL	ENSG00000103489		0.662	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	-	0	25	0	C	NM_022166		17202585	-1	tier1	-	no_errors	ENST00000261381	ensembl	human	known	74_37	silent	15.62	27	5	SNP	1.000	T	T	17202585	C	T	17202585	2	4	105	1	0	0	0	0	0	0	0	1	17512	581	21	3		3	XYLT1	16	17202585	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	12709509	17202585	73152168	152	29173											
GP2	2813	genome.wustl.edu	37	chr16	20335452	20335452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgagttctctgtgcttCggaagggttcatccaggagg	6	12	14	9	1	2	1	1	1	1	0	5	3	3	3	1	4	2	4	1	4	1	3	rs374063505		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:20335452C>T	ENST00000381362.4	-	3	297	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Missense_Mutation_p.R74Q	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	74					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CTCTGTGCTTCGGAAGGGTTC	0.567																																																	0													64	59	60					16																	20335452		2203	4300	6503	SO:0001583	missense	0			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.221G>A	16.37:g.20335452C>T	ENSP00000370767:p.Arg74Gln		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.R74Q	ENST00000381362.4	37	c.221	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.396843	0.97533	.	.	ENSG00000169347	ENST00000302555;ENST00000381362	D;D	0.99586	-6.23;-6.23	5.03	5.03	0.67393	.	.	.	.	.	D	0.99677	0.9879	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97574	1.0106	9	0.87932	D	0	-15.3946	15.9115	0.79477	0.0:1.0:0.0:0.0	.	74;74	P55259-3;P55259	.;GP2_HUMAN	Q	74	ENSP00000304044:R74Q;ENSP00000370767:R74Q	ENSP00000304044:R74Q	R	-	2	0	GP2	20242953	0.433000	0.25562	0.389000	0.26208	0.899000	0.52679	3.016000	0.49607	2.596000	0.87737	0.655000	0.94253	CGA	GP2	-	NULL	ENSG00000169347		0.567	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	-	0	41	0	C	NM_016295		20335452	-1	tier1	-	no_errors	ENST00000381362	ensembl	human	known	74_37	missense	43.64	30	24	SNP	1.000	T	T	20335452	C	T	20335452	3	4	105	1	0	0	0	0	1	0	0	0	6608	884	31	1	1432	1	GP2	16	20335452	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	3132867	20335452	70019301	153	29174											
ACSM2A	123876	genome.wustl.edu	37	chr16	20492165	20492165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccggattggaccctcggaGgtagagaatgcactgatgga	11	8	14	8	2	0	2	0	1	0	1	1	7	0	6	2	5	2	2	2	5	3	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:20492165G>T	ENST00000573854.1	+	12	1545	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D	ACSM2A_ENST00000575690.1_Missense_Mutation_p.E477D|ACSM2A_ENST00000219054.6_Missense_Mutation_p.E477D|ACSM2A_ENST00000396104.2_Missense_Mutation_p.E477D|ACSM2A_ENST00000536134.1_Missense_Mutation_p.E249D|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.E398D	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	477					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GACCCTCGGAGGTAGAGAATG	0.577																																																	0													111	99	103					16																	20492165		2202	4299	6501	SO:0001583	missense	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1431G>T	16.37:g.20492165G>T	ENSP00000459451:p.Glu477Asp		B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E477D	ENST00000573854.1	37	c.1431	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924354	0.52653	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	3.26	1.01	0.19927	AMP-dependent synthetase/ligase (1);	0.394295	0.19588	N	0.110682	T	0.77909	0.4201	M	0.65320	2	0.80722	D	1	D;D	0.76494	0.999;0.986	D;D	0.97110	1.0;0.948	T	0.74355	-0.3692	10	0.87932	D	0	-12.5928	6.768	0.23579	0.5736:0.0:0.4264:0.0	.	398;477	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	D	398;477;249;477	ENSP00000392169:E398D;ENSP00000219054:E477D;ENSP00000445082:E249D;ENSP00000379411:E477D	ENSP00000219054:E477D	E	+	3	2	ACSM2A	20399666	1.000000	0.71417	0.997000	0.53966	0.806000	0.45545	0.580000	0.23803	0.002000	0.14630	0.289000	0.19496	GAG	ACSM2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000183747		0.577	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	-	0	94	0	G	NM_001010845		20492165	1	tier1	-	no_errors	ENST00000219054	ensembl	human	known	74_37	missense	8.79	83	8	SNP	1.000	T	T	20492165	G	T	20492165	3	4	105	1	0	0	0	0	1	0	0	0	183	991	35	3	1473	3	ACSM2A	16	20492165	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	156713	20492165	69862588	154	29175											
CCDC102A	92922	genome.wustl.edu	37	chr16	57546752	57546752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgcggatcttcccgaaGaggggagcgttctgctgctg	6	9	15	11	3	2	1	0	0	2	1	3	4	3	3	1	3	4	4	1	3	1	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:57546752G>A	ENST00000258214.2	-	9	1800	c.1554C>T	c.(1552-1554)ctC>ctT	p.L518L		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	518										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCTTCCCGAAGAGGGGAGCGT	0.637																																																	0													65	59	61					16																	57546752		2198	4300	6498	SO:0001819	synonymous_variant	0			BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1554C>T	16.37:g.57546752G>A			Q9BT74	Silent	SNP	NULL	p.L518	ENST00000258214.2	37	c.1554	CCDS10784.1	16																																																																																			CCDC102A	-	NULL	ENSG00000135736		0.637	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC102A	HGNC	protein_coding	OTTHUMT00000257348.1	-	0	61	0	G	NM_033212		57546752	-1	tier1	-	no_errors	ENST00000258214	ensembl	human	known	74_37	silent	10.71	50	6	SNP	1.000	A	A	57546752	G	A	57546752	2	1	105	1	0	0	0	0	0	0	0	1	2743	929	33	3		3	CCDC102A	16	57546752	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	37054587	57546752	32808001	155	29176											
CCDC113	29070	genome.wustl.edu	37	chr16	58287930	58287930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgtagatccaaatcccGgacaggtatggaccgtgggg	10	6	15	10	3	0	1	0	0	0	1	2	3	2	3	3	6	0	2	3	6	3	2	rs372193450	byFrequency	TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:58287930G>A	ENST00000219299.4	+	3	336	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TCCAAATCCCGGACAGGTATG	0.498													G|||	3	0.000599042	8e-04	0	5008	,	,		18345	0		0	False		,,,				2504	0.002																0								G	GLN/ARG,	1,4395	2.1+/-5.4	0,1,2197	119	100	106		257,	5.3	0.7	16		106	0,8600		0,0,4300	no	missense,intron	CCDC113	NM_014157.3,NM_001142302.1	43,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	86/378,	58287930	1,12995	2198	4300	6498	SO:0001583	missense	0			AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.257G>A	16.37:g.58287930G>A	ENSP00000219299:p.Arg86Gln		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	NULL	p.R86Q	ENST00000219299.4	37	c.257	CCDS10795.1	16	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756994	0.69648	2.27E-4	0.0	ENSG00000103021	ENST00000219299	T	0.36699	1.24	5.34	5.34	0.76211	.	0.210674	0.47852	D	0.000214	T	0.57036	0.2026	M	0.74258	2.255	0.53688	D	0.999976	D	0.89917	1.0	D	0.80764	0.994	T	0.52638	-0.8549	10	0.16896	T	0.51	-10.0793	14.5397	0.67984	0.0:0.0:1.0:0.0	.	86	Q9H0I3	CC113_HUMAN	Q	86	ENSP00000219299:R86Q	ENSP00000219299:R86Q	R	+	2	0	CCDC113	56845431	1.000000	0.71417	0.688000	0.30117	0.010000	0.07245	4.465000	0.60141	2.486000	0.83907	0.655000	0.94253	CGG	CCDC113	-	NULL	ENSG00000103021		0.498	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC113	HGNC	protein_coding	OTTHUMT00000257387.2	-	0	149	0	G	NM_014157		58287930	1	tier1	-	no_errors	ENST00000219299	ensembl	human	known	74_37	missense	11.54	92	12	SNP	0.989	A	A	58287930	G	A	58287930	3	1	105	1	0	0	0	0	1	0	0	0	2757	1116	39	1	267	1	CCDC113	16	58287930	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	741178	58287930	32066823	156	29177											
CA7	766	genome.wustl.edu	37	chr16	66887278	66887278	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattccttctgcttcctcaaGatggggaagttccggagcct	7	12	10	12	1	2	1	1	0	1	1	5	3	5	3	4	3	2	2	4	3	2	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:66887278G>C	ENST00000338437.2	+	7	781		c.e7-1		RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000394069.3_Splice_Site	NM_005182.2	NP_005173.1	P43166	CAH7_HUMAN	carbonic anhydrase VII						bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of chloride transport (GO:2001225)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	Acetazolamide(DB00819)|Diclofenamide(DB01144)|Methazolamide(DB00703)|Zonisamide(DB00909)	GCTTCCTCAAGATGGGGAAGT	0.582																																																	0													84	71	75					16																	66887278		2200	4300	6500	SO:0001630	splice_region_variant	0				CCDS10821.1, CCDS42173.1	16q22.1	2008-02-05			ENSG00000168748	ENSG00000168748	4.2.1.1	"Carbonic anhydrases"	1381	protein-coding gene	gene with protein product		114770				1783392	Standard	XM_005256135		Approved		uc002eqi.3	P43166	OTTHUMG00000137524	ENST00000338437.2:c.673-1G>C	16.37:g.66887278G>C			Q541F0|Q86YU0	Splice_Site	SNP	-	e7-1	ENST00000338437.2	37	c.673-1	CCDS10821.1	16	.	.	.	.	.	.	.	.	.	.	G	14.68	2.606677	0.46527	.	.	ENSG00000168748	ENST00000338437;ENST00000394069	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2032	0.89846	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CA7	65444779	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	8.891000	0.92485	2.720000	0.93068	0.561000	0.74099	.	CA7	-	-	ENSG00000168748		0.582	CA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA7	HGNC	protein_coding	OTTHUMT00000268847.1	-	0	62	0	G		Intron	66887278	1	tier1	-	no_errors	ENST00000338437	ensembl	human	known	74_37	splice_site	7.69	59	5	SNP	1.000	C	C	66887278	G	C	66887278	5	2	105	1	0	0	0	0	0	0	1	0	2529	956	33	5	698	5	CA7	16	66887278	Splice_Site	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	8599348	66887278	23467475	157	29178											
FHOD1	29109	genome.wustl.edu	37	chr16	67265981	67265981	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcaaactcatcaaagttGagcagagcagccttaatgac	16	7	8	10	0	2	3	2	2	0	1	2	3	2	3	1	0	5	4	1	0	3	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:67265981G>C	ENST00000258201.4	-	14	2410	c.2163C>G	c.(2161-2163)ctC>ctG	p.L721L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	721	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.|Interaction with ROCK1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CATCAAAGTTGAGCAGAGCAG	0.567																																																	0													164	117	133					16																	67265981		2198	4300	6498	SO:0001819	synonymous_variant	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2163C>G	16.37:g.67265981G>C			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.L721	ENST00000258201.4	37	c.2163	CCDS10834.1	16																																																																																			FHOD1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000135723		0.567	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	-	0	105	0	G			67265981	-1	tier1	-	no_errors	ENST00000258201	ensembl	human	known	74_37	silent	5.10	93	5	SNP	1.000	C	C	67265981	G	C	67265981	2	2	105	1	0	0	0	0	0	0	0	1	5904	1277	45	5		5	FHOD1	16	67265981	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	378703	67265981	23088772	158	29179											
EDC4	23644	genome.wustl.edu	37	chr16	67914539	67914539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccaagcctcccctagccGcactcgttcccctgatgtca	7	8	6	20	2	1	1	1	1	0	0	4	1	3	1	8	0	2	2	8	0	2	2	rs151306360		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:67914539G>A	ENST00000358933.5	+	18	2416	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	726					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCCCCTAGCCGCACTCGTTCC	0.622																																																	0								G	HIS/ARG	0,4396		0,0,2198	168	166	167		2177	5.5	1	16	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	missense	EDC4	NM_014329.3	29	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	726/1402	67914539	1,12995	2198	4300	6498	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.2177G>A	16.37:g.67914539G>A	ENSP00000351811:p.Arg726His		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R726H	ENST00000358933.5	37	c.2177	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	G	34	5.307039	0.95629	0.0	1.16E-4	ENSG00000038358	ENST00000358933	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.68293	0.2985	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.67608	-0.5627	9	0.44086	T	0.13	-17.8941	18.9123	0.92490	0.0:0.0:1.0:0.0	.	726	Q6P2E9	EDC4_HUMAN	H	726	.	ENSP00000351811:R726H	R	+	2	0	EDC4	66472040	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.359000	0.97115	2.560000	0.86352	0.591000	0.81541	CGC	EDC4	-	NULL	ENSG00000038358		0.622	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	-	0	77	0	G	NM_014329		67914539	1	tier1	rs151306360	no_errors	ENST00000358933	ensembl	human	known	74_37	missense	25.61	60	21	SNP	1.000	A	A	67914539	G	A	67914539	3	1	105	1	0	0	0	0	1	0	0	0	4922	1087	38	1	2247	1	EDC4	16	67914539	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	648558	67914539	22440214	159	29180											
SMPD3	55512	genome.wustl.edu	37	chr16	68405671	68405671	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggttgttgaccctggcGagtgagtcgggcaggaggca	10	7	17	7	2	0	2	0	2	0	0	1	4	0	3	1	5	0	4	1	5	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:68405671G>T	ENST00000219334.5	-	3	1017	c.414C>A	c.(412-414)ctC>ctA	p.L138L	SMPD3_ENST00000563226.1_Silent_p.L138L|SMPD3_ENST00000566009.1_5'Flank|SMPD3_ENST00000568373.1_Silent_p.L138L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	138					cell cycle (GO:0007049)|glycosphingolipid metabolic process (GO:0006687)|hematopoietic progenitor cell differentiation (GO:0002244)|peptide hormone secretion (GO:0030072)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	Golgi cis cisterna (GO:0000137)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TGACCCTGGCGAGTGAGTCGG	0.612																																																	0													17	20	19					16																	68405671		2197	4299	6496	SO:0001819	synonymous_variant	0			AJ250460	CCDS10867.1	16q22.1	2008-02-05			ENSG00000103056	ENSG00000103056			14240	protein-coding gene	gene with protein product		605777				10823942	Standard	NM_018667		Approved	NSMASE2	uc002ewa.3	Q9NY59	OTTHUMG00000137559	ENST00000219334.5:c.414C>A	16.37:g.68405671G>T			B7ZL82|Q2M1S8	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.L138	ENST00000219334.5	37	c.414	CCDS10867.1	16																																																																																			SMPD3	-	NULL	ENSG00000103056		0.612	SMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD3	HGNC	protein_coding	OTTHUMT00000268895.3		0	47	0	G	NM_018667		68405671	-1			no_errors	ENST00000219334	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.988	T	T	68405671	G	T	68405671	2	4	105	1	0	0	0	0	0	0	0	1	14851	1045	37	2		2	SMPD3	16	68405671	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	491132	68405671	21949082	160	29181											
BCAR1	9564	genome.wustl.edu	37	chr16	75271130	75271130	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgaaccgggggcacatcaTagatgtcctgtggccccggg	7	6	14	14	3	1	1	1	0	0	1	2	2	2	1	5	4	1	1	5	4	2	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr16:75271130T>C	ENST00000162330.5	-	3	872	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	BCAR1_ENST00000393422.2_Missense_Mutation_p.Y267C|BCAR1_ENST00000393420.6_Missense_Mutation_p.Y249C|BCAR1_ENST00000546196.1_Missense_Mutation_p.Y220C|BCAR1_ENST00000418647.3_Missense_Mutation_p.Y295C|BCAR1_ENST00000542031.2_Missense_Mutation_p.Y247C|BCAR1_ENST00000535626.2_Missense_Mutation_p.Y101C|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Missense_Mutation_p.Y267C|BCAR1_ENST00000538440.2_Missense_Mutation_p.Y249C	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	249	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGGCACATCATAGATGTCCTG	0.687																																																	0													16	18	17					16																	75271130		2168	4259	6427	SO:0001583	missense	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"Cas scaffolding proteins"	971	protein-coding gene	gene with protein product	"Crk-associated substrate", "Cas scaffolding protein family member 1"	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.746A>G	16.37:g.75271130T>C	ENSP00000162330:p.Tyr249Cys		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3	p.Y295C	ENST00000162330.5	37	c.884	CCDS10915.1	16	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580170	0.86645	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12;0.12	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.73164	0.3552	M	0.67397	2.05	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.99;0.997;0.995;0.997;0.989;0.999;0.997;0.99;0.993	T	0.76672	-0.2873	10	0.87932	D	0	-17.1617	13.4797	0.61328	0.0:0.0:0.0:1.0	.	267;101;295;247;249;267;249;249;39	B4DIW5;F5GXV6;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945;B3KWE2	.;.;.;.;.;.;.;BCAR1_HUMAN;.	C	249;267;267;249;295;101;249;247;220	ENSP00000162330:Y249C;ENSP00000377074:Y267C;ENSP00000392708:Y267C;ENSP00000443841:Y249C;ENSP00000391669:Y295C;ENSP00000440370:Y101C;ENSP00000377072:Y249C;ENSP00000440415:Y247C;ENSP00000442161:Y220C	ENSP00000162330:Y249C	Y	-	2	0	BCAR1	73828631	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	5.325000	0.65869	1.945000	0.56424	0.533000	0.62120	TAT	BCAR1	-	NULL	ENSG00000050820		0.687	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAR1	HGNC	protein_coding	OTTHUMT00000269017.1	-	0	52	0	T	NM_014567		75271130	-1	tier1	-	no_errors	ENST00000418647	ensembl	human	known	74_37	missense	16.67	45	9	SNP	0.997	C	C	75271130	T	C	75271130	3	2	105	1	0	0	0	0	1	0	0	0	1349	1406	49	4	1940	4	BCAR1	16	75271130	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	6865459	75271130	15083623	161	29182											
RTN4RL1	146760	genome.wustl.edu	37	chr17	1840731	1840731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgtagaggtagagggCgtgaagcttcaccaggccct	10	8	13	10	1	1	3	1	1	0	2	1	3	1	3	2	3	1	3	2	3	3	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:1840731C>T	ENST00000331238.6	-	2	864	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGGTAGAGGGCGTGAAGCTTC	0.652																																					GBM(68;949 1139 14865 32798 38342)												0													49	55	53					17																	1840731		2197	4291	6488	SO:0001583	missense	0			AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"nogo-66 receptor homolog 2"	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.385G>A	17.37:g.1840731C>T	ENSP00000330631:p.Ala129Thr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A129T	ENST00000331238.6	37	c.385	CCDS45569.1	17	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627940	0.46944	.	.	ENSG00000185924	ENST00000331238	T	0.57107	0.42	5.72	5.72	0.89469	.	0.000000	0.39020	N	0.001482	T	0.28995	0.0720	N	0.00517	-1.405	0.58432	D	0.999999	B	0.33739	0.422	B	0.41691	0.364	T	0.44221	-0.9342	10	0.12430	T	0.62	.	19.9443	0.97176	0.0:1.0:0.0:0.0	.	129	Q86UN2	R4RL1_HUMAN	T	129	ENSP00000330631:A129T	ENSP00000330631:A129T	A	-	1	0	RTN4RL1	1787481	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.920000	0.70017	2.717000	0.92951	0.644000	0.83932	GCC	RTN4RL1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185924		0.652	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4RL1	HGNC	protein_coding	OTTHUMT00000450155.2	-	0	42	0	C	NM_178568		1840731	-1	tier1	-	no_errors	ENST00000331238	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T	T	1840731	C	T	1840731	3	4	105	1	0	0	0	0	1	0	0	0	13776	768	27	1	944	1	RTN4RL1	17	1840731	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		1840731	79354479	162	29183											
ASPA	443	genome.wustl.edu	37	chr17	3384928	3384928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagatttgccatatgaaGtgagaagggctcaagaaata	17	8	11	5	0	1	5	1	2	0	4	1	6	1	5	1	1	1	1	1	1	7	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:3384928G>T	ENST00000263080.2	+	2	426	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.V90L	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	90					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	GCCATATGAAGTGAGAAGGGC	0.333																																																	0													61	59	60					17																	3384928		2203	4300	6503	SO:0001583	missense	0			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"aminoacylase 2", "Canavan disease"	608034	"aspartoacylase (aminoacylase 2, Canavan disease)"			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.268G>T	17.37:g.3384928G>T	ENSP00000263080:p.Val90Leu			Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.V90L	ENST00000263080.2	37	c.268	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	g	17.29	3.351469	0.61183	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.98060	-4.69;-4.69	5.62	4.64	0.57946	.	0.054935	0.64402	D	0.000001	D	0.95645	0.8584	M	0.66506	2.035	0.80722	D	1	P	0.44659	0.84	B	0.35607	0.206	D	0.94881	0.8039	10	0.42905	T	0.14	-12.8623	13.4149	0.60963	0.0754:0.0:0.9246:0.0	.	90	P45381	ACY2_HUMAN	L	90	ENSP00000409976:V90L;ENSP00000263080:V90L	ENSP00000263080:V90L	V	+	1	0	ASPA	3331678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.616000	0.74205	2.817000	0.96982	0.563000	0.77884	GTG	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase	ENSG00000108381		0.333	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	-	0	72	0	G	NM_000049		3384928	1	tier1	-	no_errors	ENST00000263080	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	3384928	G	T	3384928	3	4	105	1	0	0	0	0	1	0	0	0	1051	1029	36	3	274	3	ASPA	17	3384928	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1544197	3384928	77810282	163	29184											
TMEM95	339168	genome.wustl.edu	37	chr17	7259742	7259742	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgggaagccaagattctGctcctctccatcttcggagc	7	12	9	13	1	3	1	0	0	3	1	6	3	4	3	3	2	3	1	3	2	2	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:7259742G>T	ENST00000576060.1	+	6	468	c.441G>T	c.(439-441)ctG>ctT	p.L147L	RP11-542C16.1_ENST00000572417.1_RNA|TMEM95_ENST00000389982.4_Missense_Mutation_p.A145S|TMEM95_ENST00000330767.4_Silent_p.L155L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	147						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CCAAGATTCTGCTCCTCTCCA	0.567											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													191	190	190					17																	7259742		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.441G>T	17.37:g.7259742G>T		640	B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	NULL	p.A145S	ENST00000576060.1	37	c.433		17	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247778	0.39697	.	.	ENSG00000182896	ENST00000389982	.	.	.	5.34	1.88	0.25563	.	1.555220	0.04468	N	0.375482	T	0.66167	0.2762	.	.	.	0.80722	D	1	P	0.52061	0.95	P	0.54431	0.752	T	0.62196	-0.6905	8	0.51188	T	0.08	.	7.8631	0.29522	0.0921:0.2368:0.6711:0.0	.	145	Q3KNT9-3	.	S	145	.	ENSP00000374632:A145S	A	+	1	0	TMEM95	7200466	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.931000	0.28871	1.220000	0.43490	0.561000	0.74099	GCT	TMEM95	-	NULL	ENSG00000182896		0.567	TMEM95-003	KNOWN	basic	protein_coding	TMEM95	HGNC	protein_coding	OTTHUMT00000440555.2	-	0	58	0	G	NM_198154		7259742	1	tier1	-	no_errors	ENST00000389982	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.997	T	T	7259742	G	T	7259742	2	4	105	1	0	0	0	0	0	0	0	1	16270	1306	46	3		3	TMEM95	17	7259742	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	3874814	7259742	73935468	164	29185											
TP53	7157	genome.wustl.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024C>T	17.37:g.7574003G>A	ENSP00000269305:p.Arg342*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R342*	ENST00000269305.4	37	c.1024	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.061927	0.97246	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	3.43	0.39272	.	0.217683	0.37906	N	0.001893	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-0.3792	6.4477	0.21885	0.0845:0.0:0.5925:0.323	.	.	.	.	X	342;342;331	.	ENSP00000269305:R342X	R	-	1	2	TP53	7514728	0.820000	0.29190	0.702000	0.30337	0.859000	0.49053	2.169000	0.42434	0.657000	0.30906	0.561000	0.74099	CGA	TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	16	0	G	NM_000546		7574003	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	46.67	8	7	SNP	0.307	A	A	7574003	G	A	7574003	4	1	105	1	0	0	0	0	0	1	0	0	16429	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	314261	7574003	73621207	165	29186											
TP53	7157	genome.wustl.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102	94	97					17																	7578190		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.Y220C	ENST00000269305.4	37	c.659	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	72	0	T	NM_000546		7578190	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.998	C	C	7578190	T	C	7578190	3	2	105	1	0	0	0	0	1	0	0	0	16429	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	4187	7578190	73617020	166	29187											
ALKBH5	54890	genome.wustl.edu	37	chr17	18110203	18110203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacccagctatgcttcagAtcgcctgtcaggaaacaaca	13	7	7	14	1	2	1	2	0	0	1	3	2	2	2	3	1	4	2	3	1	3	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:18110203A>T	ENST00000399138.4	+	3	931	c.926A>T	c.(925-927)gAt>gTt	p.D309V	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	309					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					TATGCTTCAGATCGCCTGTCA	0.552																																					Ovarian(166;154 1953 40235 46283 46309)												0													196	203	200					17																	18110203		1944	4129	6073	SO:0001583	missense	0			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"Alkylation repair homologs"	25996	protein-coding gene	gene with protein product		613303	"oxoglutarate and iron-dependent oxygenase domain containing", "alkB, alkylation repair homolog 5 (E. coli)"	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.926A>T	17.37:g.18110203A>T	ENSP00000382091:p.Asp309Val		B4DVJ4|D3DXC6|Q9NXD6	Missense_Mutation	SNP	NULL	p.D309V	ENST00000399138.4	37	c.926	CCDS42272.1	17	.	.	.	.	.	.	.	.	.	.	A	25.8	4.672167	0.88348	.	.	ENSG00000091542	ENST00000261650;ENST00000500385;ENST00000399138	.	.	.	5.56	5.56	0.83823	.	0.074928	0.56097	D	0.000038	T	0.50565	0.1623	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	P	0.52343	0.696	T	0.55939	-0.8061	9	0.59425	D	0.04	-7.4364	15.7046	0.77569	1.0:0.0:0.0:0.0	.	309	Q6P6C2-2	.	V	309;298;309	.	ENSP00000261650:D309V	D	+	2	0	ALKBH5	18050928	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.396000	0.52565	2.115000	0.64714	0.533000	0.62120	GAT	ALKBH5	-	NULL	ENSG00000091542		0.552	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	-	0	52	0	A	NM_017758		18110203	1	tier1	-	no_errors	ENST00000399138	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	T	T	18110203	A	T	18110203	3	4	105	1	0	0	0	0	1	0	0	0	530	333	12	5	936	5	ALKBH5	17	18110203	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	10532013	18110203	63085007	167	29188											
CDC6	990	genome.wustl.edu	37	chr17	38445741	38445741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaagctgtctcgggcattGaacaaagctaaaaactccag	15	7	10	9	1	1	1	0	1	1	0	3	2	2	2	1	2	4	3	1	2	6	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:38445741G>C	ENST00000209728.4	+	2	540	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	23					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTCGGGCATTGAACAAAGCTA	0.463																																																	0													106	101	103					17																	38445741		2203	4300	6503	SO:0001583	missense	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"CDC6 (cell division cycle 6, S. cerevisiae) homolog", "CDC6 cell division cycle 6 homolog (S. cerevisiae)", "cell division cycle 6 homolog (S. cerevisiae)"	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.69G>C	17.37:g.38445741G>C	ENSP00000209728:p.Leu23Phe		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.L23F	ENST00000209728.4	37	c.69	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	3.935	-0.015314	0.07681	.	.	ENSG00000094804	ENST00000209728	T	0.51574	0.7	4.72	2.6	0.31112	.	1.049470	0.07443	N	0.897621	T	0.33818	0.0876	L	0.51422	1.61	0.09310	N	1	P	0.34780	0.468	B	0.32289	0.143	T	0.28427	-1.0044	10	0.13470	T	0.59	-33.6944	1.0575	0.01593	0.2088:0.1776:0.4296:0.1841	.	23	Q99741	CDC6_HUMAN	F	23	ENSP00000209728:L23F	ENSP00000209728:L23F	L	+	3	2	CDC6	35699267	0.000000	0.05858	0.040000	0.18447	0.032000	0.12392	-0.073000	0.11468	1.217000	0.43442	0.557000	0.71058	TTG	CDC6	-	pirsf_Cell_div_Cdc6/18	ENSG00000094804		0.463	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	-	0	84	0	G			38445741	1	tier1	-	no_errors	ENST00000209728	ensembl	human	known	74_37	missense	10.87	82	10	SNP	0.000	C	C	38445741	G	C	38445741	3	2	105	1	0	0	0	0	1	0	0	0	3090	1281	45	5	71	5	CDC6	17	38445741	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	20335538	38445741	42749469	168	29189											
RND2	8153	genome.wustl.edu	37	chr17	41180632	41180632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgctcagctgtcaggaCggccagaccgggggaatgag	9	5	16	11	3	2	2	2	1	0	1	3	5	3	4	3	4	1	2	3	4	1	0	rs368469044		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:41180632C>T	ENST00000587250.2	+	5	726	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	CTD-3199J23.4_ENST00000225973.5_lincRNA|RND2_ENST00000544533.1_Missense_Mutation_p.R208W			P52198	RND2_HUMAN	Rho family GTPase 2	207					GTP catabolic process (GO:0006184)|positive regulation of collateral sprouting (GO:0048672)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCTGTCAGGACGGCCAGACCG	0.622													C|||	1	0.000199681	0	0	5008	,	,		19093	0.001		0	False		,,,				2504	0																0								C	TRP/ARG	0,4406		0,0,2203	48	42	44		619	3	1	17		44	1,8599	1.2+/-3.3	0,1,4299	no	missense	RND2	NM_005440.4	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/228	41180632	1,13005	2203	4300	6503	SO:0001583	missense	0			X95456	CCDS11452.1	17q21.31	2012-10-02	2005-01-24	2005-01-24	ENSG00000108830	ENSG00000108830			18315	protein-coding gene	gene with protein product		601555	"ras homolog gene family, member N"	ARHN			Standard	XM_005257706		Approved	Rho7, RhoN	uc002icn.3	P52198	OTTHUMG00000180817	ENST00000587250.2:c.619C>T	17.37:g.41180632C>T	ENSP00000466680:p.Arg207Trp		A8K2D4|O00690|O00734|Q5U0P6|Q99535	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R208W	ENST00000587250.2	37	c.622	CCDS11452.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498084	0.85069	0.0	1.16E-4	ENSG00000108830	ENST00000544533;ENST00000225973	T	0.69175	-0.38	5.17	3.03	0.35002	.	0.509100	0.20230	N	0.096510	T	0.72684	0.3491	L	0.46157	1.445	0.49582	D	0.999803	D	0.76494	0.999	P	0.59288	0.855	T	0.76979	-0.2758	10	0.87932	D	0	.	14.6995	0.69147	0.3094:0.6906:0.0:0.0	.	207	P52198	RND2_HUMAN	W	208;207	ENSP00000439328:R208W	ENSP00000225973:R207W	R	+	1	2	RND2	38434158	0.963000	0.33076	0.996000	0.52242	0.993000	0.82548	1.487000	0.35540	1.391000	0.46566	0.655000	0.94253	CGG	RND2	-	NULL	ENSG00000108830		0.622	RND2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RND2	HGNC	protein_coding	OTTHUMT00000453111.2		0	68	0	C	NM_005440		41180632	1			no_errors	ENST00000544533	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.984	T	T	41180632	C	T	41180632	3	4	105	1	0	0	0	0	1	0	0	0	13465	527	19	1	637	1	RND2	17	41180632	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	2734891	41180632	40014578	169	29190											
C17orf104	284071	genome.wustl.edu	37	chr17	42745202	42745202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatctactggagtcacaGggtcattctaatagccacag	13	9	9	10	0	4	1	2	0	2	1	4	2	4	2	1	2	2	0	1	2	4	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:42745202G>T	ENST00000409122.2	+	5	2065	c.1923G>T	c.(1921-1923)caG>caT	p.Q641H	C17orf104_ENST00000359945.3_Missense_Mutation_p.Q641H|C17orf104_ENST00000409464.1_Missense_Mutation_p.Q475H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	641										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						TGGAGTCACAGGGTCATTCTA	0.418																																																	0													62	63	63					17																	42745202		2203	4300	6503	SO:0001583	missense	0				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1923G>T	17.37:g.42745202G>T	ENSP00000386452:p.Gln641His		B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	NULL	p.Q641H	ENST00000409122.2	37	c.1923	CCDS45703.2	17	.	.	.	.	.	.	.	.	.	.	G	12.59	1.985025	0.35036	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.35605	1.3;1.3;1.31	5.66	0.911	0.19343	.	0.103125	0.43260	D	0.000593	T	0.43166	0.1235	L	0.38175	1.15	0.27281	N	0.958107	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.67382	0.951;0.951;0.951	T	0.28235	-1.0050	10	0.51188	T	0.08	-23.1212	10.2635	0.43441	0.4246:0.0:0.5754:0.0	.	641;641;475	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	H	641;641;475	ENSP00000353028:Q641H;ENSP00000386452:Q641H;ENSP00000386586:Q475H	ENSP00000353028:Q641H	Q	+	3	2	C17orf104	40100728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.792000	0.26929	0.341000	0.23771	0.655000	0.94253	CAG	C17orf104	-	NULL	ENSG00000180336		0.418	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000329171.2	-	0	41	0	G	NM_001145080		42745202	1	tier1	-	no_errors	ENST00000409122	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.997	T	T	42745202	G	T	42745202	3	4	105	1	0	0	0	0	1	0	0	0	1856	991	35	3	1941	3	C17orf104	17	42745202	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1564570	42745202	38450008	170	29191											
HOXB13	10481	genome.wustl.edu	37	chr17	46805780	46805780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggtggcattgctttggcGgctccgccgagcctggcaga	5	9	16	11	3	0	1	0	0	0	1	1	2	1	1	3	5	2	4	3	5	0	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:46805780G>T	ENST00000290295.7	-	1	760	c.176C>A	c.(175-177)cCg>cAg	p.P59Q	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	59					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						TTGCTTTGGCGGCTCCGCCGA	0.652																																																	0													42	50	48					17																	46805780		2201	4296	6497	SO:0001583	missense	0			U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"Homeoboxes / ANTP class : HOXL subclass"	5112	protein-coding gene	gene with protein product		604607	"homeo box B13"			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.176C>A	17.37:g.46805780G>T	ENSP00000290295:p.Pro59Gln		B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P59Q	ENST00000290295.7	37	c.176	CCDS11536.1	17	.	.	.	.	.	.	.	.	.	.	G	19.10	3.761843	0.69763	.	.	ENSG00000159184	ENST00000290295	T	0.52526	0.66	4.9	4.9	0.64082	.	0.191648	0.48286	D	0.000197	T	0.66157	0.2761	M	0.66939	2.045	0.43338	D	0.995383	D	0.64830	0.994	D	0.65987	0.94	T	0.69826	-0.5040	10	0.87932	D	0	.	16.7972	0.85605	0.0:0.0:1.0:0.0	.	59	Q92826	HXB13_HUMAN	Q	59	ENSP00000290295:P59Q	ENSP00000290295:P59Q	P	-	2	0	HOXB13	44160779	0.923000	0.31300	0.854000	0.33618	0.824000	0.46624	4.091000	0.57700	2.544000	0.85801	0.462000	0.41574	CCG	HOXB13	-	pfam_HoxA13_N	ENSG00000159184		0.652	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB13	HGNC	protein_coding	OTTHUMT00000358087.3		0	93	0	G	NM_006361		46805780	-1			no_errors	ENST00000290295	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.937	T	T	46805780	G	T	46805780	3	4	105	1	0	0	0	0	1	0	0	0	7327	1116	39	2	686	2	HOXB13	17	46805780	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	4060578	46805780	34389430	171	29192											
RNF43	54894	genome.wustl.edu	37	chr17	56438273	56438273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctggtggccagctggctGatggcccaggctgttctctg	3	11	14	13	0	1	1	0	1	1	0	3	1	2	1	3	5	1	4	3	5	0	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:56438273G>A	ENST00000584437.1	-	6	2675	c.720C>T	c.(718-720)atC>atT	p.I240I	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Silent_p.I199I|RNF43_ENST00000577716.1_Silent_p.I240I|RNF43_ENST00000407977.2_Silent_p.I240I|RNF43_ENST00000500597.2_Silent_p.I199I|RNF43_ENST00000577625.1_Silent_p.I113I|RNF43_ENST00000581868.1_Silent_p.I113I			Q68DV7	RNF43_HUMAN	ring finger protein 43	240					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCTGGCTGATGGCCCAGG	0.652																																																	0													35	36	36					17																	56438273		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11607.1	17q23.2	2013-01-09						"RING-type (C3HC4) zinc fingers"	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.720C>T	17.37:g.56438273G>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.I240	ENST00000584437.1	37	c.720	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.652	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0	40	0	G	NM_017763		56438273	-1	tier1	-	no_errors	ENST00000407977	ensembl	human	known	74_37	silent	17.31	43	9	SNP	1.000	A	A	56438273	G	A	56438273	2	1	105	1	0	0	0	0	0	0	0	1	13540	1280	45	3		3	RNF43	17	56438273	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	9632493	56438273	24756937	172	29193											
ICT1	3396	genome.wustl.edu	37	chr17	73015819	73015819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgacaatatcttattgtcGgagtagtggtcctggggggc	7	13	14	7	1	1	1	0	1	1	0	3	2	2	2	1	5	0	1	1	5	4	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:73015819G>A	ENST00000301585.5	+	3	261	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	83					mitochondrial translational termination (GO:0070126)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|translation release factor activity, codon nonspecific (GO:0016150)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					TCTTATTGTCGGAGTAGTGGT	0.448																																																	0													106	98	101					17																	73015819		2203	4300	6503	SO:0001583	missense	0			X81788	CCDS11711.1	17q25	2014-02-12				ENSG00000167862			5359	protein-coding gene	gene with protein product		603000				8575443, 20186120	Standard	NM_001545		Approved	DS-1	uc002jmm.3	Q14197		ENST00000301585.5:c.248G>A	17.37:g.73015819G>A	ENSP00000301585:p.Arg83Gln		B2RAD1|Q53HM7|Q53Y11	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II	p.R83Q	ENST00000301585.5	37	c.248	CCDS11711.1	17	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897651	0.91962	.	.	ENSG00000167862	ENST00000301585	T	0.25250	1.81	5.48	4.31	0.51392	Peptide chain release factor class I/class II (1);	0.145647	0.39909	N	0.001236	T	0.49745	0.1575	M	0.93150	3.385	0.49130	D	0.99975	D	0.65815	0.995	P	0.51101	0.659	T	0.65224	-0.6220	10	0.87932	D	0	-12.0804	13.4194	0.60987	0.0858:0.0:0.9142:0.0	.	83	Q14197	ICT1_HUMAN	Q	83	ENSP00000301585:R83Q	ENSP00000301585:R83Q	R	+	2	0	ICT1	70527414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.070000	0.64376	2.563000	0.86464	0.563000	0.77884	CGG	ICT1	-	pfam_Pep_chain_release_fac_I_II	ENSG00000167862		0.448	ICT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICT1	HGNC	protein_coding	OTTHUMT00000445314.1	-	0	102	0	G	NM_001545		73015819	1	tier1	-	no_errors	ENST00000301585	ensembl	human	known	74_37	missense	12.50	84	12	SNP	0.997	A	A	73015819	G	A	73015819	3	1	105	1	0	0	0	0	1	0	0	0	7515	1116	39	1	258	1	ICT1	17	73015819	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	16577546	73015819	8179391	173	29194											
ZNF750	79755	genome.wustl.edu	37	chr17	80790319	80790320	+	Frame_Shift_Ins	INS	-	-	AA																															tttttggcttccgctctttgINSaggagactcattttcctcct																										TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr17:80790319_80790320insAA	ENST00000269394.3	-	2	844_845	c.11_12insTT	c.(10-12)ctcfs	p.L4fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	4					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCGCTCTTTGAGGAGACTCAT	0.5																																																	0																																										SO:0001589	frameshift_variant	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.11_12insTT	17.37:g.80790319_80790320insAA	ENSP00000269394:p.Leu4fs		Q9H899	Frame_Shift_Ins	INS	NULL	p.K5fs	ENST00000269394.3	37	c.12_11	CCDS11819.1	17																																																																																			ZNF750	-	NULL	ENSG00000141579		0.5	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2		0	121	0	-	NM_024702		80790320	-1	tier1		no_errors	ENST00000269394	ensembl	human	known	74_37	frame_shift_ins	27.66	68	26	INS	0.970:0.933	AA	AA	80790320	-	AA	80790319	7	5	105	1	0	1	1	0	0	0	0	0	18180	1277	45	0	2167	0	ZNF750	17	80790319	Frame_Shift_Ins	INS	-	TCGA-LN-A49S-01A-11D-A247-09	7774500	80790319	404891	174	29195											
PTPRM	5797	genome.wustl.edu	37	chr18	8378361	8378361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtctctgtattatgacatGaacaaactggatccacagac	14	10	8	9	0	1	3	0	2	1	1	3	4	2	4	1	2	2	1	1	2	4	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr18:8378361G>A	ENST00000332175.8	+	25	4559	c.3522G>A	c.(3520-3522)atG>atA	p.M1174I	PTPRM_ENST00000580170.1_Missense_Mutation_p.M1187I|PTPRM_ENST00000400053.4_Missense_Mutation_p.M1112I|PTPRM_ENST00000444013.1_Missense_Mutation_p.M961I|PTPRM_ENST00000400060.4_Missense_Mutation_p.M1188I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1174					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ATTATGACATGAACAAACTGG	0.498																																																	0													146	119	129					18																	8378361		2203	4300	6503	SO:0001583	missense	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3522G>A	18.37:g.8378361G>A	ENSP00000331418:p.Met1174Ile		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.M1188I	ENST00000332175.8	37	c.3564	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014568	0.75161	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.33485	1.01	0.80722	D	1	B;P;P	0.45126	0.003;0.851;0.851	B;P;P	0.58391	0.007;0.838;0.838	T	0.00254	-1.1874	10	0.33141	T	0.24	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	961;1187;1174	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	I	1174;1188;1112;961	ENSP00000331418:M1174I;ENSP00000382933:M1188I;ENSP00000382927:M1112I;ENSP00000387608:M961I	ENSP00000331418:M1174I	M	+	3	0	PTPRM	8368361	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.735000	0.93741	0.591000	0.81541	ATG	PTPRM	-	NULL	ENSG00000173482		0.498	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	64	0	G			8378361	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	missense	8.14	79	7	SNP	1.000	A	A	8378361	G	A	8378361	3	1	105	1	0	0	0	0	1	0	0	0	12851	1290	45	3	3667	3	PTPRM	18	8378361	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09		8378361	69698887	175	29196											
TXNDC2	84203	genome.wustl.edu	37	chr18	9887037	9887037	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggccccagaagaaaccatCcaatccaagaaggaggacct	17	3	9	12	0	0	3	0	0	0	3	2	5	2	5	6	3	1	0	6	3	6	0			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr18:9887037C>T	ENST00000306084.6	+	2	760	c.561C>T	c.(559-561)atC>atT	p.I187I	TXNDC2_ENST00000357775.5_Silent_p.I120I|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	187	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAACCATCCAATCCAAGA	0.572																																																	0													134	135	135					18																	9887037		2203	4300	6503	SO:0001819	synonymous_variant	0			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 1"					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.561C>T	18.37:g.9887037C>T			A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.I187	ENST00000306084.6	37	c.561	CCDS42414.1	18																																																																																			TXNDC2	-	pfam_Glutenin	ENSG00000168454		0.572	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	-	0	74	0	C			9887037	1	tier1	-	no_errors	ENST00000306084	ensembl	human	known	74_37	silent	7.87	82	7	SNP	0.000	T	T	9887037	C	T	9887037	2	4	105	1	0	0	0	0	0	0	0	1	16846	845	30	3		3	TXNDC2	18	9887037	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	1508676	9887037	68190211	176	29197											
DCC	1630	genome.wustl.edu	37	chr18	51025708	51025708	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaacaaccacctatgctGcccccatctcagcctgagca	11	6	5	19	0	1	1	1	1	1	0	2	1	1	1	6	0	6	2	6	0	3	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr18:51025708G>C	ENST00000442544.2	+	27	4555	c.3939G>C	c.(3937-3939)ctG>ctC	p.L1313L	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.L946L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1313					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACCTATGCTGCCCCCATCTC	0.507																																																	0													178	146	157					18																	51025708		2203	4300	6503	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2701	protein-coding gene	gene with protein product	"immunoglobulin superfamily, DCC subclass, member 1"	120470	"deleted in colorectal carcinoma"			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3939G>C	18.37:g.51025708G>C				Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1313	ENST00000442544.2	37	c.3939	CCDS11952.1	18																																																																																			DCC	-	pfam_Neogenin_C	ENSG00000187323		0.507	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	-	0	104	0	G	NM_005215		51025708	1	tier1	-	no_errors	ENST00000442544	ensembl	human	known	74_37	silent	23.19	53	16	SNP	1.000	C	C	51025708	G	C	51025708	2	2	105	1	0	0	0	0	0	0	0	1	4291	1306	46	5		5	DCC	18	51025708	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	41138671	51025708	27051540	177	29198											
LONP1	25873	genome.wustl.edu	37	chr19	5694527	5694527	+	IGR	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctccacggactcggcctCgccgctgacaatcttgtagg	7	8	10	16	4	1	1	0	1	1	0	4	2	2	2	4	3	0	2	4	3	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:5694527C>T	ENST00000577222.1	+	0	874				LONP1_ENST00000590729.1_Missense_Mutation_p.E601K|LONP1_ENST00000593119.1_Missense_Mutation_p.E667K|LONP1_ENST00000585374.1_Missense_Mutation_p.E617K|LONP1_ENST00000540670.2_Missense_Mutation_p.E535K|LONP1_ENST00000360614.3_Missense_Mutation_p.E731K			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GACTCGGCCTCGCCGCTGACA	0.647																																																	0													64	52	56					19																	5694527		2202	4300	6502	SO:0001628	intergenic_variant	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"L ribosomal proteins"	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5694527C>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ	p.E731K	ENST00000577222.1	37	c.2191	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047517	0.36085	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.23754	2.22;1.89	3.97	2.9	0.33743	.	0.179238	0.46758	D	0.000264	T	0.19485	0.0468	L	0.35723	1.085	0.37925	D	0.931829	B;B;B	0.29378	0.062;0.243;0.123	B;B;B	0.24974	0.021;0.057;0.028	T	0.09271	-1.0682	10	0.52906	T	0.07	-28.0397	11.1972	0.48719	0.0:0.8118:0.1881:0.0	.	731;667;731	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	731;695;535	ENSP00000353826:E731K;ENSP00000441523:E535K	ENSP00000351177:E695K	E	-	1	0	LONP1	5645527	0.996000	0.38824	0.085000	0.20634	0.603000	0.37013	3.438000	0.52871	0.632000	0.30432	0.462000	0.41574	GAG	LONP1	-	superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ	ENSG00000196365		0.647	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	-	0	34	0	C	NM_015414		5694527	-1	tier1	-	no_errors	ENST00000360614	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.468	T	T	5694527	C	T	5694527	1	4	105	0	1	0	0	0	0	0	0	0	8927	893	31	1		1	LONP1	19	5694527	IGR	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		5694527	53434456	178	29199											
PSPN	5623	genome.wustl.edu	37	chr19	6375764	6375764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagacgagaactctccatCggccacgggaaccccacggg	10	5	11	15	4	2	2	1	0	1	2	4	4	2	3	4	3	2	0	4	3	2	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:6375764C>T	ENST00000245810.1	-	1	96	c.97G>A	c.(97-99)Gat>Aat	p.D33N	PSPN_ENST00000597721.1_Missense_Mutation_p.D33N	NM_004158.2	NP_004149.1	O60542	PSPN_HUMAN	persephin	33					axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|central nervous system development (GO:0007417)|nervous system development (GO:0007399)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			lung(1)|ovary(1)|skin(1)	3						AACTCTCCATCGGCCACGGGA	0.642																																																	0													53	46	48					19																	6375764		2203	4300	6503	SO:0001583	missense	0			AF040962	CCDS12164.1	19p13.3	2014-01-30				ENSG00000125650		"Endogenous ligands"	9579	protein-coding gene	gene with protein product		602921				10072588	Standard	NM_004158		Approved	PSP	uc010xja.2	O60542		ENST00000245810.1:c.97G>A	19.37:g.6375764C>T	ENSP00000245810:p.Asp33Asn			Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.D33N	ENST00000245810.1	37	c.97	CCDS12164.1	19	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462048	0.26248	.	.	ENSG00000125650	ENST00000545374;ENST00000245810	D	0.89196	-2.48	3.45	-0.308	0.12773	.	.	.	.	.	T	0.76478	0.3993	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58918	-0.7551	9	0.19590	T	0.45	-3.8471	5.9047	0.18986	0.0:0.5128:0.3722:0.1151	.	33	O60542	PSPN_HUMAN	N	33	ENSP00000245810:D33N	ENSP00000245810:D33N	D	-	1	0	PSPN	6326764	0.005000	0.15991	0.001000	0.08648	0.099000	0.18886	0.418000	0.21230	-0.060000	0.13132	-0.657000	0.03884	GAT	PSPN	-	NULL	ENSG00000125650		0.642	PSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPN	HGNC	protein_coding	OTTHUMT00000398032.1	-	0	80	0	C	NM_004158		6375764	-1	tier1	-	no_errors	ENST00000245810	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.007	T	T	6375764	C	T	6375764	3	4	105	1	0	0	0	0	1	0	0	0	12760	884	31	1	380	1	PSPN	19	6375764	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	681237	6375764	52753219	179	29200											
VAV1	7409	genome.wustl.edu	37	chr19	6833625	6833625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggtccctccatgtggccGacatgggcaaggtacgagtg	8	7	16	10	2	0	0	0	0	0	0	2	3	2	0	3	4	1	2	3	4	2	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:6833625G>A	ENST00000602142.1	+	17	1779	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	VAV1_ENST00000539284.1_Missense_Mutation_p.R469Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R511Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R534Q|VAV1_ENST00000304076.2_Missense_Mutation_p.R566Q	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	566					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCATGTGGCCGACATGGGCAA	0.577																																																	0													146	127	133					19																	6833625		2203	4300	6503	SO:0001583	missense	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing", "SH2 domain containing"	12657	protein-coding gene	gene with protein product		164875	"vav 1 oncogene"	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1697G>A	19.37:g.6833625G>A	ENSP00000472929:p.Arg566Gln		B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.R566Q	ENST00000602142.1	37	c.1697	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162210	0.57368	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.76448	-0.07;-1.02	4.73	3.69	0.42338	.	0.221523	0.33772	N	0.004578	T	0.75817	0.3901	L	0.33485	1.01	0.46437	D	0.999047	D;D;D;D	0.71674	0.986;0.995;0.97;0.998	B;P;P;D	0.62955	0.423;0.722;0.708;0.909	T	0.70414	-0.4878	10	0.20519	T	0.43	.	7.8636	0.29524	0.1118:0.0:0.8882:0.0	.	469;566;511;566	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	Q	566;469	ENSP00000302269:R566Q;ENSP00000443242:R469Q	ENSP00000302269:R566Q	R	+	2	0	VAV1	6784625	1.000000	0.71417	0.738000	0.30950	0.267000	0.26476	3.931000	0.56529	2.199000	0.70637	0.491000	0.48974	CGA	VAV1	-	NULL	ENSG00000141968		0.577	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	-	0	142	0	G			6833625	1	tier1	-	no_errors	ENST00000602142	ensembl	human	known	74_37	missense	34.07	60	31	SNP	0.665	A	A	6833625	G	A	6833625	3	1	105	1	0	0	0	0	1	0	0	0	17180	1058	37	1	1763	1	VAV1	19	6833625	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	457861	6833625	52295358	180	29201											
IL27RA	9466	genome.wustl.edu	37	chr19	14157366	14157366	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggactgggctcgagatggGgaccccctggagaaactcaa	10	6	15	10	1	1	2	1	0	0	2	2	6	1	4	2	5	1	1	2	5	2	0	rs140727303		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:14157366G>T	ENST00000263379.2	+	8	1202	c.1077G>T	c.(1075-1077)ggG>ggT	p.G359G		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	359	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTCGAGATGGGGACCCCCTGG	0.642																																					Colon(164;1849 1896 4443 37792 47834)												0													87	93	91					19																	14157366		2203	4300	6503	SO:0001819	synonymous_variant	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"Interleukins and interleukin receptors", "Fibronectin type III domain containing"	17290	protein-coding gene	gene with protein product	"T-cell cytokine receptor type 1"	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1077G>T	19.37:g.14157366G>T			A0N0L1|O60624	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G359	ENST00000263379.2	37	c.1077	CCDS12303.1	19																																																																																			IL27RA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000104998		0.642	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1		0	59	0	G	NM_004843		14157366	1			no_errors	ENST00000263379	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.000	T	T	14157366	G	T	14157366	2	4	105	1	0	0	0	0	0	0	0	1	7708	1219	43	3		3	IL27RA	19	14157366	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	7323741	14157366	44971617	181	29202											
MYO9B	4650	genome.wustl.edu	37	chr19	17212764	17212764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggaatgggtgctggaCgccaacgactcgcctgtgca	8	6	16	11	4	0	0	0	0	0	0	1	4	0	2	2	4	3	2	2	4	2	0	rs55955348		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:17212764C>T	ENST00000594824.1	+	2	384	c.237C>T	c.(235-237)gaC>gaT	p.D79D	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Silent_p.D79D|MYO9B_ENST00000595618.1_Silent_p.D79D			Q13459	MYO9B_HUMAN	myosin IXB	79	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGGTGCTGGACGCCAACGACT	0.632																																																	0													50	57	55					19																	17212764		2089	4207	6296	SO:0001819	synonymous_variant	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.237C>T	19.37:g.17212764C>T			O75314|Q9NUJ2|Q9UHN0	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.D79	ENST00000594824.1	37	c.237		19																																																																																			MYO9B	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	ENSG00000099331		0.632	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0	30	0	C			17212764	1			no_errors	ENST00000594824	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.284	T	T	17212764	C	T	17212764	2	4	105	1	0	0	0	0	0	0	0	1	10123	535	19	1		1	MYO9B	19	17212764	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	3055398	17212764	41916219	182	29203											
MYO9B	4650	genome.wustl.edu	37	chr19	17316815	17316815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggcgtgtgcgtagacaGcctgaccagcgacaaggcct	8	7	13	13	4	0	2	0	1	0	1	1	3	0	2	3	2	3	1	3	2	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:17316815G>A	ENST00000594824.1	+	32	5258	c.5111G>A	c.(5110-5112)aGc>aAc	p.S1704N	CTD-3032J10.3_ENST00000601929.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.S1704N|MYO9B_ENST00000595618.1_Missense_Mutation_p.S1704N			Q13459	MYO9B_HUMAN	myosin IXB	1704	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGCGTAGACAGCCTGACCAGC	0.662																																																	0													31	39	36					19																	17316815		2125	4220	6345	SO:0001583	missense	0				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"Myosins / Myosin superfamily : Class IX"	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.5111G>A	19.37:g.17316815G>A	ENSP00000471367:p.Ser1704Asn		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.S1704N	ENST00000594824.1	37	c.5111		19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314797	0.23908	.	.	ENSG00000099331	ENST00000397274;ENST00000319396	T	0.44881	0.91	4.74	2.46	0.29980	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.376195	0.22676	N	0.057017	T	0.32882	0.0844	M	0.62723	1.935	0.27403	N	0.954787	B;B;B	0.16166	0.016;0.016;0.016	B;B;B	0.14578	0.01;0.01;0.011	T	0.06698	-1.0812	10	0.25106	T	0.35	.	4.8592	0.13575	0.1962:0.2997:0.5041:0.0	.	1704;1704;1710	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	N	1704;49	ENSP00000380444:S1704N	ENSP00000314032:S49N	S	+	2	0	MYO9B	17177815	0.987000	0.35691	1.000000	0.80357	0.871000	0.50021	0.988000	0.29616	2.342000	0.79632	0.561000	0.74099	AGC	MYO9B	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom	ENSG00000099331		0.662	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1		0	69	0	G			17316815	1			no_errors	ENST00000594824	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.989	A	A	17316815	G	A	17316815	3	1	105	1	0	0	0	0	1	0	0	0	10123	971	34	3	5233	3	MYO9B	19	17316815	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	104051	17316815	41812168	183	29204											
COMP	1311	genome.wustl.edu	37	chr19	18899660	18899660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttacccgggtgttgatGcacacggagttggggacgca	7	8	16	10	3	0	1	0	1	0	0	0	3	0	3	2	5	2	4	2	5	1	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:18899660G>A	ENST00000222271.2	-	6	635	c.591C>T	c.(589-591)tgC>tgT	p.C197C	COMP_ENST00000542601.2_Silent_p.C164C|COMP_ENST00000425807.1_Silent_p.C144C	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	197	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGGTGTTGATGCACACGGAGT	0.672																																																	0													79	73	75					19																	18899660		2203	4300	6503	SO:0001819	synonymous_variant	0			L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"thrombospondin-5"	600310	"cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.591C>T	19.37:g.18899660G>A			B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd_dom,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C197	ENST00000222271.2	37	c.591	CCDS12385.1	19																																																																																			COMP	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000105664		0.672	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMP	HGNC	protein_coding	OTTHUMT00000403457.1		0	31	0	G	NM_000095		18899660	-1			no_errors	ENST00000222271	ensembl	human	known	74_37	silent	10.34	26	3	SNP	1.000	A	A	18899660	G	A	18899660	2	1	105	1	0	0	0	0	0	0	0	1	3731	1311	46	3		3	COMP	19	18899660	Silent	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1582845	18899660	40229323	184	29205											
TMC4	147798	genome.wustl.edu	37	chr19	54669176	54669176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taattcgtacaagatgatgcGctggcgcagccgcacgtgga	10	8	13	10	5	0	2	0	1	0	1	1	3	0	3	1	2	3	4	1	2	3	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:54669176G>A	ENST00000376591.4	-	6	1071	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	TMC4_ENST00000301187.4_Missense_Mutation_p.R308C|TMC4_ENST00000476013.2_Intron|TMC4_ENST00000416963.1_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	314					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGATGATGCGCTGGCGCAGC	0.622																																																	0													44	35	38					19																	54669176		2203	4300	6503	SO:0001583	missense	0			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.940C>T	19.37:g.54669176G>A	ENSP00000365776:p.Arg314Cys		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	pfam_TMC	p.R308C	ENST00000376591.4	37	c.922	CCDS46174.1	19	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750044	0.49257	.	.	ENSG00000167608	ENST00000301187;ENST00000376591	T;T	0.44881	0.91;0.91	4.8	1.03	0.20045	.	0.590668	0.18426	N	0.141598	T	0.51975	0.1706	M	0.76574	2.34	0.34121	D	0.66409	D;B	0.69078	0.997;0.243	P;B	0.56343	0.796;0.036	T	0.63225	-0.6685	10	0.52906	T	0.07	-7.0659	7.6529	0.28358	0.0:0.3448:0.4778:0.1774	.	314;308	Q7Z404;Q7Z404-1	TMC4_HUMAN;.	C	308;314	ENSP00000301187:R308C;ENSP00000365776:R314C	ENSP00000301187:R308C	R	-	1	0	TMC4	59360988	0.826000	0.29277	0.897000	0.35233	0.909000	0.53808	1.752000	0.38349	0.530000	0.28619	0.650000	0.86243	CGC	TMC4	-	NULL	ENSG00000167608		0.622	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2		0	50	0	G			54669176	-1			no_errors	ENST00000301187	ensembl	human	known	74_37	missense	10.34	26	3	SNP	0.565	A	A	54669176	G	A	54669176	3	1	105	1	0	0	0	0	1	0	0	0	16034	1087	38	1	1238	1	TMC4	19	54669176	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	35769516	54669176	4459807	185	29206											
SUV420H2	84787	genome.wustl.edu	37	chr19	55855145	55855145	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgagaatgacttcagcAtcatgtactcaacccgcaag	12	8	9	12	2	3	2	3	2	0	1	3	3	3	2	2	1	3	3	2	1	4	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:55855145A>T	ENST00000255613.3	+	5	732	c.484A>T	c.(484-486)Atc>Ttc	p.I162F	SUV420H2_ENST00000402499.4_Intron|AC020922.1_ENST00000539076.1_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	162	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACTTCAGCATCATGTACTC	0.607																																																	0													55	55	55					19																	55855145		2201	4298	6499	SO:0001583	missense	0			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.484A>T	19.37:g.55855145A>T	ENSP00000255613:p.Ile162Phe		Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.I162F	ENST00000255613.3	37	c.484	CCDS12922.1	19	.	.	.	.	.	.	.	.	.	.	A	19.13	3.768051	0.69878	.	.	ENSG00000133247	ENST00000255613	D	0.85339	-1.97	3.86	0.487	0.16842	SET domain (2);	0.214244	0.29522	N	0.011919	D	0.84070	0.5391	L	0.60904	1.88	0.80722	D	1	D	0.56746	0.977	P	0.51079	0.658	T	0.81061	-0.1103	10	0.66056	D	0.02	-5.525	8.3682	0.32399	0.4981:0.0:0.5019:0.0	.	162	Q86Y97	SV422_HUMAN	F	162	ENSP00000255613:I162F	ENSP00000255613:I162F	I	+	1	0	SUV420H2	60546957	1.000000	0.71417	0.993000	0.49108	0.872000	0.50106	2.491000	0.45303	-0.089000	0.12484	0.477000	0.44152	ATC	SUV420H2	-	pfam_SET_dom,smart_SET_dom	ENSG00000133247		0.607	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H2	HGNC	protein_coding	OTTHUMT00000318309.2	-	0	41	0	A	NM_032701		55855145	1	tier1	-	no_errors	ENST00000255613	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T	T	55855145	A	T	55855145	3	4	105	1	0	0	0	0	1	0	0	0	15462	217	8	5	498	5	SUV420H2	19	55855145	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	1185969	55855145	3273838	186	29207											
ZSCAN1	284312	genome.wustl.edu	37	chr19	58565137	58565137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccagaagacccatcgCgaggaagggccctttccgtg	10	5	13	13	3	0	2	0	0	0	2	2	5	1	3	4	2	1	1	4	2	2	1	rs370513764		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:58565137C>T	ENST00000282326.1	+	6	1192	c.945C>T	c.(943-945)cgC>cgT	p.R315R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	315					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGACCCATCGCGAGGAAGGGC	0.642																																																	0								C		1,4405		0,1,2202	70	62	64		945	-1.5	0	19		64	0,8600		0,0,4300	no	coding-synonymous	ZSCAN1	NM_182572.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		315/409	58565137	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"-", "Zinc fingers, C2H2-type"	23712	protein-coding gene	gene with protein product			"zinc finger with SCAN domain 1"			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.945C>T	19.37:g.58565137C>T			Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R315	ENST00000282326.1	37	c.945	CCDS12969.1	19																																																																																			ZSCAN1	-	pfscan_Znf_C2H2	ENSG00000152467		0.642	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0	42	0	C	NM_182572		58565137	1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	silent	24.00	19	6	SNP	0.023	T	T	58565137	C	T	58565137	2	4	105	1	0	0	0	0	0	0	0	1	18274	755	27	1		1	ZSCAN1	19	58565137	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	2709992	58565137	563846	187	29208											
ZNF324	25799	genome.wustl.edu	37	chr19	58983245	58983245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactgtggcaaggccttCgccaagggcgccgtgctgct	5	8	16	12	3	0	0	0	0	0	0	1	1	0	1	3	4	2	3	3	4	2	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr19:58983245C>A	ENST00000536459.2	+	4	2095	c.1386C>A	c.(1384-1386)ttC>ttA	p.F462L	ZNF324_ENST00000535298.1_Missense_Mutation_p.F239L|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.F462L			O75467	Z324A_HUMAN	zinc finger protein 324	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAAGGCCTTCGCCAAGGGCG	0.701																																																	0													36	37	37					19																	58983245		2203	4298	6501	SO:0001583	missense	0			AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"Zinc fingers, C2H2-type", "-"	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1386C>A	19.37:g.58983245C>A	ENSP00000444812:p.Phe462Leu		B3KRX1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F462L	ENST00000536459.2	37	c.1386	CCDS12981.1	19	.	.	.	.	.	.	.	.	.	.	C	13.93	2.382692	0.42207	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.46063	0.88;0.88;0.88	3.84	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41712	D	0.000825	T	0.60521	0.2275	M	0.88570	2.965	0.18873	N	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.53265	-0.8463	10	0.87932	D	0	.	6.4179	0.21728	0.0:0.1857:0.1536:0.6606	.	462	O75467	Z324A_HUMAN	L	462;462;452;239	ENSP00000196482:F462L;ENSP00000444812:F462L;ENSP00000439588:F239L	ENSP00000196482:F462L	F	+	3	2	ZNF324	63675057	0.000000	0.05858	0.952000	0.39060	0.226000	0.24999	-0.686000	0.05161	-0.469000	0.06911	-0.537000	0.04273	TTC	ZNF324	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083812		0.701	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324	HGNC	protein_coding	OTTHUMT00000467044.1	-	0	50	0	C	NM_014347		58983245	1	tier1	-	no_errors	ENST00000196482	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.097	A	A	58983245	C	A	58983245	3	1	105	1	0	0	0	0	1	0	0	0	17892	883	31	2	1396	2	ZNF324	19	58983245	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	418108	58983245	145738	188	29209											
VPS16	64601	genome.wustl.edu	37	chr20	2846872	2846872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaagccttttgtggagatCtgcatgaaacaacataacaa	15	10	7	9	0	1	2	0	1	1	1	2	3	2	2	2	1	5	1	2	1	5	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr20:2846872C>T	ENST00000380445.3	+	23	2358	c.2286C>T	c.(2284-2286)atC>atT	p.I762I	VPS16_ENST00000380469.3_Silent_p.I618I|VPS16_ENST00000380443.3_Silent_p.I448I|PTPRA_ENST00000380393.3_Intron	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	762					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TTGTGGAGATCTGCATGAAAC	0.522																																																	0													111	94	100					20																	2846872		2203	4300	6503	SO:0001819	synonymous_variant	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.2286C>T	20.37:g.2846872C>T			Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.I762	ENST00000380445.3	37	c.2286	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_C,pirsf_VPS16	ENSG00000215305		0.522	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	-	0	116	0	C	NM_022575		2846872	1	tier1	-	no_errors	ENST00000380445	ensembl	human	known	74_37	silent	11.25	71	9	SNP	1.000	T	T	2846872	C	T	2846872	2	4	105	1	0	0	0	0	0	0	0	1	17242	903	32	3		3	VPS16	20	2846872	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		2846872	60178648	189	29210											
ZNF337	26152	genome.wustl.edu	37	chr20	25657230	25657231	+	Frame_Shift_Ins	INS	-	-	TG																															cacacataggacttctctccINStgtgtgtgtgttctggtgca																										TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr20:25657230_25657231insTG	ENST00000376436.1	-	4	1232_1233	c.693_694insCA	c.(691-696)acaggafs	p.G232fs	RP4-694B14.5_ENST00000428254.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Ins_p.G232fs|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Ins_p.G200fs|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTCTCTCCTGTGTGTGTGT	0.505																																																	0																																										SO:0001589	frameshift_variant	0				CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"Zinc fingers, C2H2-type", "-"	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.692_693dupCA	20.37:g.25657239_25657240dupTG	ENSP00000365619:p.Gly232fs		B4DSM2|Q9Y3Y5	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G231fs	ENST00000376436.1	37	c.694_693	CCDS13174.1	20																																																																																			ZNF337	-	pfscan_Znf_C2H2	ENSG00000130684		0.505	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF337	HGNC	protein_coding	OTTHUMT00000078454.1		0	70	0	-			25657231	-1	tier1		no_errors	ENST00000252979	ensembl	human	known	74_37	frame_shift_ins	12.77	82	12	INS	0.950:0.945	TG	TG	25657231	-	TG	25657230	7	5	105	1	0	1	1	0	0	0	0	0	17901	690	24	0	1565	0	ZNF337	20	25657230	Frame_Shift_Ins	INS	-	TCGA-LN-A49S-01A-11D-A247-09	22810358	25657230	37368290	190	29211											
MOCS3	8813	genome.wustl.edu	37	chr20	49576374	49576374	+	5'Flank	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcaactactgagccCagaggagcgtgtttctgtca	8	10	10	13	1	2	2	1	1	1	1	3	3	3	3	2	1	5	2	2	1	2	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr20:49576374C>T	ENST00000371588.5	-	0	0				DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371583.5_5'Flank|MOCS3_ENST00000244051.1_Missense_Mutation_p.P332L|DPM1_ENST00000371582.4_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CTACTGAGCCCAGAGGAGCGT	0.567																																																	0													119	118	119					20																	49576374		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"Glycosyltransferase family 2 domain containing"	3005	protein-coding gene	gene with protein product	"DPM synthase complex, catalytic subunit"	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576374C>T	Exception_encountered		O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.P332L	ENST00000371588.5	37	c.995	CCDS13434.1	20	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093518	0.08632	.	.	ENSG00000124217	ENST00000244051	T	0.29142	1.58	4.89	3.89	0.44902	Rhodanese-like (1);Molybdenum cofactor biosynthesis, MoeB (1);	0.283692	0.37437	N	0.002087	T	0.30603	0.0770	M	0.68952	2.095	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.09975	-1.0650	9	.	.	.	-8.1086	12.0028	0.53241	0.1232:0.7155:0.1614:0.0	.	332	O95396	MOCS3_HUMAN	L	332	ENSP00000244051:P332L	.	P	+	2	0	MOCS3	49009781	0.001000	0.12720	0.967000	0.41034	0.107000	0.19398	0.813000	0.27225	2.539000	0.85634	0.561000	0.74099	CCA	MOCS3	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000124217		0.567	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCS3	HGNC	protein_coding	OTTHUMT00000079716.1	-	0	42	0	C	NM_003859		49576374	1	tier1	-	no_errors	ENST00000244051	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.000	T	T	49576374	C	T	49576374	1	4	105	0	1	0	0	0	0	0	0	0	9730	594	21	3		3	MOCS3	20	49576374	5'Flank	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	23919144	49576374	13449146	191	29212											
DNMT3L	29947	genome.wustl.edu	37	chr21	45668946	45668946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgctccacacgcggacagCattctgcaaggatccgccgt	8	8	11	14	4	1	0	0	0	1	0	3	2	3	2	3	2	3	4	3	2	1	2			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr21:45668946C>T	ENST00000418993.1	-	11	1441	c.958G>A	c.(958-960)Gct>Act	p.A320T	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000270172.3_Missense_Mutation_p.A320T	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	320					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		ACGCGGACAGCATTCTGCAAG	0.627																																																	0													62	49	53					21																	45668946		2203	4300	6503	SO:0001583	missense	0			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"cytosine-5-methyltransferase 3-like protein", "human cytosine-5-methyltransferase 3-like protein"	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.958G>A	21.37:g.45668946C>T	ENSP00000412862:p.Ala320Thr		E9PB42|Q9BUJ4	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.A320T	ENST00000418993.1	37	c.958	CCDS46650.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.62|12.62	1.992041|1.992041	0.35131|0.35131	.|.	.|.	ENSG00000142182|ENSG00000142182	ENST00000270172;ENST00000418993|ENST00000436357	T;T|.	0.37584|.	1.19;1.19|.	3.02|3.02	3.02|3.02	0.34903|0.34903	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44973|0.44973	0.1319|0.1319	L|L	0.55103|0.55103	1.725|1.725	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.29037|.	0.231;0.231|.	B;B|.	0.24701|.	0.055;0.055|.	T|T	0.28332|0.28332	-1.0047|-1.0047	10|5	0.48119|.	T|.	0.1|.	-21.3631|-21.3631	9.7642|9.7642	0.40550|0.40550	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	320;320|.	Q9UJW3-2;Q9UJW3|.	.;DNM3L_HUMAN|.	T|I	320|114	ENSP00000270172:A320T;ENSP00000412862:A320T|.	ENSP00000270172:A320T|.	A|M	-|-	1|3	0|0	DNMT3L|DNMT3L	44493374|44493374	0.415000|0.415000	0.25416|0.25416	0.035000|0.035000	0.18076|0.18076	0.004000|0.004000	0.04260|0.04260	1.904000|1.904000	0.39868|0.39868	2.003000|2.003000	0.58678|0.58678	0.557000|0.557000	0.71058|0.71058	GCT|ATG	DNMT3L	-	NULL	ENSG00000142182		0.627	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1		0	79	0	C	NM_013369		45668946	-1			no_errors	ENST00000270172	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.035	T	T	45668946	C	T	45668946	3	4	105	1	0	0	0	0	1	0	0	0	4692	710	25	3	213	3	DNMT3L	21	45668946	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		45668946	2460949	192	29213											
C22orf25	128989	genome.wustl.edu	37	chr22	20049072	20049072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacctacgggctgagcaaCgcgctgctggagactccctg	7	6	14	14	3	0	2	0	1	0	1	1	3	1	2	2	3	4	5	2	3	2	1	rs148730599		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr22:20049072C>T	ENST00000327374.4	+	7	649	c.471C>T	c.(469-471)aaC>aaT	p.N157N	AC006547.13_ENST00000600937.1_RNA|AC006547.13_ENST00000598339.1_RNA|AC006547.13_ENST00000609191.1_RNA|AC006547.13_ENST00000608610.1_RNA|AC006547.13_ENST00000600617.1_RNA|TANGO2_ENST00000398042.2_Silent_p.N95N|AC006547.13_ENST00000609644.1_RNA|TANGO2_ENST00000432883.1_Silent_p.N95N|AC006547.13_ENST00000595864.1_RNA|AC006547.13_ENST00000601746.1_RNA|TANGO2_ENST00000401833.1_Silent_p.N198N|TANGO2_ENST00000401886.1_Silent_p.N95N|AC006547.13_ENST00000415503.1_RNA|AC006547.13_ENST00000596334.1_RNA|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000456048.1_Silent_p.N162N|TANGO2_ENST00000447208.2_Silent_p.N157N|TANGO2_ENST00000420290.2_Silent_p.N59N	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	157																	GGCTGAGCAACGCGCTGCTGG	0.622																																																	0								C		0,4404		0,0,2202	28	28	28		471	-5.7	0.4	22	dbSNP_134	28	2,8594	1.2+/-3.3	0,2,4296	no	coding-synonymous	C22orf25	NM_152906.4		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		157/277	20049072	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	0				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 25"	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.471C>T	22.37:g.20049072C>T			A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	pfam_DUF833	p.N162	ENST00000327374.4	37	c.486	CCDS13772.1	22																																																																																			TANGO2	-	pfam_DUF833	ENSG00000183597		0.622	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO2	HGNC	protein_coding	OTTHUMT00000318689.2	-	0	51	0	C	NM_152906		20049072	1	tier1	rs148730599	no_errors	ENST00000456048	ensembl	human	known	74_37	silent	15.00	34	6	SNP	0.679	T	T	20049072	C	T	20049072	2	4	105	1	0	0	0	0	0	0	0	1	2146	535	19	1		1	C22orf25	22	20049072	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		20049072	31255494	193	29214											
PI4KA	5297	genome.wustl.edu	37	chr22	21119944	21119944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagcttctgtaaccgaGgcttagcttctttgatgggt	8	13	13	7	1	2	2	0	1	2	1	2	4	2	3	1	3	3	4	1	3	3	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr22:21119944G>A	ENST00000572273.1	-	20	2422	c.2192C>T	c.(2191-2193)cCt>cTt	p.P731L	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.P789L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	731					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGTAACCGAGGCTTAGCTTC	0.532																																					GBM(136;1332 1831 3115 23601 50806)												0													111	103	106					22																	21119944		2203	4300	6503	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2192C>T	22.37:g.21119944G>A	ENSP00000458238:p.Pro731Leu		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P789L	ENST00000572273.1	37	c.2366		22	.	.	.	.	.	.	.	.	.	.	G	36	5.689682	0.96784	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.74846	0.3770	L	0.59436	1.845	0.80722	D	1	D	0.58970	0.984	P	0.59221	0.854	T	0.73839	-0.3856	9	0.51188	T	0.08	-17.2266	20.0693	0.97712	0.0:0.0:1.0:0.0	.	731	P42356	PI4KA_HUMAN	L	731	.	ENSP00000255882:P731L	P	-	2	0	PI4KA	19449944	1.000000	0.71417	0.903000	0.35520	0.998000	0.95712	9.725000	0.98778	2.758000	0.94735	0.563000	0.77884	CCT	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.532	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0	67	0	G	NM_058004		21119944	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	13.51	32	5	SNP	1.000	A	A	21119944	G	A	21119944	3	1	105	1	0	0	0	0	1	0	0	0	11912	1000	35	3	4086	3	PI4KA	22	21119944	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	1070872	21119944	30184622	194	29215											
MMP11	4320	genome.wustl.edu	37	chr22	24122846	24122846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttccccaagactcaccGagaaggggatgtccacttcg	9	9	9	14	2	2	2	1	0	1	2	5	4	4	3	4	2	0	0	4	2	2	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chr22:24122846G>A	ENST00000215743.3	+	4	612	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	187					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	AAGACTCACCGAGAAGGGGAT	0.602																																																	0													69	67	68					22																	24122846		2203	4300	6503	SO:0001583	missense	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"matrix metalloproteinase 11 (stromelysin 3)"	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.560G>A	22.37:g.24122846G>A	ENSP00000215743:p.Arg187Gln		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R187Q	ENST00000215743.3	37	c.560	CCDS13816.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.067808	0.93950	.	.	ENSG00000099953	ENST00000215743	T	0.20738	2.05	4.12	4.12	0.48240	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	L	0.56340	1.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.19418	-1.0306	10	0.48119	T	0.1	.	16.6852	0.85303	0.0:0.0:1.0:0.0	.	187	P24347	MMP11_HUMAN	Q	187	ENSP00000215743:R187Q	ENSP00000215743:R187Q	R	+	2	0	MMP11	22452846	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.301000	0.72782	2.606000	0.88127	0.650000	0.86243	CGA	MMP11	-	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000099953		0.602	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	-	0	52	0	G	NM_005940		24122846	1	tier1	-	no_errors	ENST00000215743	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	A	A	24122846	G	A	24122846	3	1	105	1	0	0	0	0	1	0	0	0	9688	1058	37	1	574	1	MMP11	22	24122846	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	3002902	24122846	27181720	195	29216											
ARX	170302	genome.wustl.edu	37	chrX	25028418	25028418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccagcctcatggccagttCctccctataagaaagcaaca	12	8	7	14	0	1	1	1	0	0	1	4	1	4	1	5	1	3	2	5	1	4	3			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:25028418C>T	ENST00000379044.4	-	3	1288	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	360					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						ATGGCCAGTTCCTCCCTATAA	0.607																																																	0													61	52	55					X																	25028418		2202	4300	6502	SO:0001583	missense	0			AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"Homeoboxes / PRD class"	18060	protein-coding gene	gene with protein product	"cancer/testis antigen 121"	300382	"mental retardation, X-linked 54", "mental retardation, X-linked 43", "mental retardation, X-linked 36", "mental retardation, X-linked 29", "mental retardation, X-linked 32", "mental retardation, X-linked 33", "mental retardation, X-linked 38", "mental retardation, X-linked 87", "mental retardation, X-linked 76"	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.1078G>A	X.37:g.25028418C>T	ENSP00000368332:p.Glu360Lys			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_Antifreeze_1	p.E360K	ENST00000379044.4	37	c.1078	CCDS14215.1	X	.	.	.	.	.	.	.	.	.	.	c	18.53	3.643895	0.67244	.	.	ENSG00000004848	ENST00000379044	D	0.96522	-4.04	4.68	3.81	0.43845	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.136400	0.47093	N	0.000243	D	0.95812	0.8637	L	0.28694	0.88	0.80722	D	1	D	0.55605	0.972	D	0.62955	0.909	D	0.95620	0.8680	10	0.87932	D	0	.	12.2991	0.54864	0.0:0.9143:0.0:0.0857	.	360	Q96QS3	ARX_HUMAN	K	360	ENSP00000368332:E360K	ENSP00000368332:E360K	E	-	1	0	ARX	24938339	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.983000	0.63832	0.901000	0.36495	0.519000	0.50382	GAA	ARX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000004848		0.607	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARX	HGNC	protein_coding	OTTHUMT00000056109.1	-	0	31	0	C			25028418	-1	tier1	-	no_errors	ENST00000379044	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	T	T	25028418	C	T	25028418	3	4	105	1	0	0	0	0	1	0	0	0	1005	864	30	3	622	3	ARX	23	25028418	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		25028418	130242142	196	29217											
RP2	6102	genome.wustl.edu	37	chrX	46696586	46696586	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacaaggagtcgcggccCgagaacgaggaggagcggcc	10	2	18	11	5	0	2	0	1	0	1	1	7	0	5	2	5	2	1	2	5	2	0	rs370530958		TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:46696586C>A	ENST00000218340.3	+	1	212	c.51C>A	c.(49-51)ccC>ccA	p.P17P		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	17					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AGTCGCGGCCCGAGAACGAGG	0.632																																																	0													54	35	42					X																	46696586		2162	4156	6318	SO:0001819	synonymous_variant	0			AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.51C>A	X.37:g.46696586C>A			Q86XJ7|Q9NU67	Silent	SNP	pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2	p.P17	ENST00000218340.3	37	c.51	CCDS14270.1	X																																																																																			RP2	-	pirsf_Protein_XRP2	ENSG00000102218		0.632	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP2	HGNC	protein_coding	OTTHUMT00000056375.1	-	0	46	0	C	NM_006915		46696586	1	tier1	-	no_errors	ENST00000218340	ensembl	human	known	74_37	silent	10.53	51	6	SNP	0.853	A	A	46696586	C	A	46696586	2	1	105	1	0	0	0	0	0	0	0	1	13579	639	23	2		2	RP2	23	46696586	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	21668168	46696586	108573974	197	29218											
RRAGB	10325	genome.wustl.edu	37	chrX	55748670	55748670	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaccagcatgaggtctattAtctttgcaaattatattgcc	12	14	7	8	0	2	2	0	1	2	1	2	2	2	2	2	1	3	2	2	1	5	6			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:55748670A>T	ENST00000262850.7	+	3	621	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	RRAGB_ENST00000374941.4_Missense_Mutation_p.I60F	NM_016656.3	NP_057740.2			Ras-related GTP binding B											breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GAGGTCTATTATCTTTGCAAA	0.383																																																	0													142	118	126					X																	55748670		2203	4300	6503	SO:0001583	missense	0			X90530	CCDS14371.1, CCDS14372.1	Xp11.21	2008-02-05			ENSG00000083750	ENSG00000083750			19901	protein-coding gene	gene with protein product		300725				7499430, 9394008	Standard	NM_006064		Approved		uc004dup.3	Q5VZM2	OTTHUMG00000021662	ENST00000262850.7:c.178A>T	X.37:g.55748670A>T	ENSP00000262850:p.Ile60Phe			Missense_Mutation	SNP	pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	p.I60F	ENST00000262850.7	37	c.178	CCDS14372.1	X	.	.	.	.	.	.	.	.	.	.	A	24.1	4.499025	0.85069	.	.	ENSG00000083750	ENST00000374941;ENST00000414239;ENST00000262850	T;T	0.70045	-0.45;-0.32	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.984	T	0.78013	-0.2370	10	0.87932	D	0	-10.9	11.5986	0.50988	1.0:0.0:0.0:0.0	.	60;60	Q5VZM2-2;Q5VZM2	.;RRAGB_HUMAN	F	60;22;60	ENSP00000364077:I60F;ENSP00000410630:I22F	ENSP00000262850:I60F	I	+	1	0	RRAGB	55765395	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.330000	0.90019	1.816000	0.52996	0.430000	0.28490	ATC	RRAGB	-	pfam_Gtr1_RagA,superfamily_P-loop_NTPase	ENSG00000083750		0.383	RRAGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAGB	HGNC	protein_coding	OTTHUMT00000056878.1	-	0	33	0	A	NM_016656		55748670	1	tier1	-	no_errors	ENST00000262850	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	T	T	55748670	A	T	55748670	3	4	105	1	0	0	0	0	1	0	0	0	13718	449	16	5	188	5	RRAGB	23	55748670	Missense_Mutation	SNP	A	TCGA-LN-A49S-01A-11D-A247-09	9052084	55748670	99521890	198	29219											
ARHGEF9	23229	genome.wustl.edu	37	chrX	62875450	62875450	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtattttttcctccagcttCttggcaaagaacagatgtat	10	15	7	9	1	1	2	0	0	1	2	3	2	3	2	2	1	2	4	2	1	4	7			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:62875450C>G	ENST00000253401.6	-	8	2024	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	ARHGEF9_ENST00000433323.2_Missense_Mutation_p.K135N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K306N|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K355N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K387N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K406N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	408	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCTCCAGCTTCTTGGCAAAGA	0.423																																																	0													197	165	176					X																	62875450		2203	4300	6503	SO:0001583	missense	0			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	14561	protein-coding gene	gene with protein product	"collybistin"	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.1224G>C	X.37:g.62875450C>G	ENSP00000253401:p.Lys408Asn		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.K408N	ENST00000253401.6	37	c.1224	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340953	0.60963	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000433323;ENST00000374872	D;D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46;-2.46	5.54	2.84	0.33178	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.94368	0.8189	M	0.91717	3.235	0.53005	D	0.999967	D;D;D;D	0.76494	0.999;0.999;0.996;0.999	D;D;D;D	0.74674	0.984;0.978;0.948;0.978	D	0.92238	0.5798	10	0.44086	T	0.13	.	9.4828	0.38911	0.0:0.7604:0.0:0.2396	.	355;406;408;408	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	N	408;406;355;306;135;387	ENSP00000253401:K408N;ENSP00000364012:K406N;ENSP00000399994:K355N;ENSP00000364004:K306N;ENSP00000404478:K135N;ENSP00000364006:K387N	ENSP00000253401:K408N	K	-	3	2	ARHGEF9	62792175	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.511000	0.35801	0.176000	0.19873	0.436000	0.28706	AAG	ARHGEF9	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000131089		0.423	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	-	0	32	0	C			62875450	-1	tier1	-	no_errors	ENST00000253401	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	G	G	62875450	C	G	62875450	3	3	105	1	0	0	0	0	1	0	0	0	912	912	32	5	338	5	ARHGEF9	23	62875450	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	7126780	62875450	92395110	199	29220											
RAP2C	57826	genome.wustl.edu	37	chrX	131348451	131348451	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctcttcactctgacaatTtgatctctcattggcttgat	8	18	5	10	0	5	3	2	3	3	0	7	3	5	3	0	1	0	1	0	1	2	5			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:131348451T>A	ENST00000342983.2	-	3	1043	c.297A>T	c.(295-297)caA>caT	p.Q99H	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.Q99H|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	99					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CTCTGACAATTTGATCTCTCA	0.348																																																	0													70	56	61					X																	131348451		2203	4300	6503	SO:0001583	missense	0			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.297A>T	X.37:g.131348451T>A	ENSP00000340274:p.Gln99His		B3KWD6|Q5H9H9|Q9BTS0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q99H	ENST00000342983.2	37	c.297	CCDS14632.1	X	.	.	.	.	.	.	.	.	.	.	T	16.96	3.265141	0.59431	.	.	ENSG00000123728	ENST00000342983;ENST00000370874	T;T	0.78003	-1.14;-1.14	5.44	2.69	0.31865	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	L	0.60845	1.875	0.43099	D	0.994786	D	0.69078	0.997	D	0.66602	0.945	T	0.80299	-0.1441	10	0.62326	D	0.03	.	7.6998	0.28617	0.0:0.5751:0.0:0.4249	.	99	Q9Y3L5	RAP2C_HUMAN	H	99	ENSP00000340274:Q99H;ENSP00000359911:Q99H	ENSP00000340274:Q99H	Q	-	3	2	RAP2C	131176132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.892000	0.39748	0.474000	0.27392	-0.287000	0.09952	CAA	RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000123728		0.348	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	-	0	34	0	T	NM_021183		131348451	-1	tier1	-	no_errors	ENST00000342983	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	A	A	131348451	T	A	131348451	3	1	105	1	0	0	0	0	1	0	0	0	13087	1838	64	5	258	5	RAP2C	23	131348451	Missense_Mutation	SNP	T	TCGA-LN-A49S-01A-11D-A247-09	68473001	131348451	23922109	200	29221											
SLITRK2	84631	genome.wustl.edu	37	chrX	144904330	144904330	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatattgagggaggacacCttcctaggcctggagagcct	10	8	14	9	0	0	3	0	1	0	2	1	7	1	5	4	4	1	0	4	4	2	4			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:144904330C>A	ENST00000370490.1	+	1	4642	c.387C>A	c.(385-387)acC>acA	p.T129T	SLITRK2_ENST00000413937.2_Silent_p.T129T|SLITRK2_ENST00000434188.2_Silent_p.T129T|SLITRK2_ENST00000447897.2_Silent_p.T129T|SLITRK2_ENST00000428560.2_Silent_p.T129T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	129					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGACACCTTCCTAGGCC	0.507																																																	0													81	64	70					X																	144904330		2203	4300	6503	SO:0001819	synonymous_variant	0			Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"slit-like 1 (Drosophila)"	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.387C>A	X.37:g.144904330C>A			A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T129	ENST00000370490.1	37	c.387	CCDS14680.1	X																																																																																			SLITRK2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000185985		0.507	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK2	HGNC	protein_coding	OTTHUMT00000058633.1	-	0	28	0	C	NM_032539		144904330	1	tier1	-	no_errors	ENST00000370490	ensembl	human	known	74_37	silent	11.90	37	5	SNP	0.552	A	A	144904330	C	A	144904330	2	1	105	1	0	0	0	0	0	0	0	1	14788	668	24	3		3	SLITRK2	23	144904330	Silent	SNP	C	TCGA-LN-A49S-01A-11D-A247-09	13555879	144904330	10366230	201	29222											
IDH3G	3421	genome.wustl.edu	37	chrX	153051695	153051695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatggatgccaggacaGccttacggatggaggtggca	9	8	15	9	1	0	0	0	0	0	0	1	4	1	4	3	6	3	1	3	6	1	1			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrX:153051695G>A	ENST00000217901.5	-	12	1248	c.1052C>T	c.(1051-1053)gCt>gTt	p.A351V	IDH3G_ENST00000427365.2_Missense_Mutation_p.A293V|IDH3G_ENST00000370092.3_Missense_Mutation_p.A351V|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000370093.1_3'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	351					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGGACAGCCTTACGGAT	0.662																																																	0													90	76	81					X																	153051695		2202	4300	6502	SO:0001583	missense	0				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.1052C>T	X.37:g.153051695G>A	ENSP00000217901:p.Ala351Val		E9PDD5|Q9BUU5	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.A351V	ENST00000217901.5	37	c.1052	CCDS14730.1	X	.	.	.	.	.	.	.	.	.	.	g	19.11	3.763715	0.69878	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000427365;ENST00000393771	T;T;T	0.70749	-0.51;-0.51;-0.51	5.46	5.46	0.80206	Isopropylmalate dehydrogenase-like domain (2);	0.102101	0.64402	D	0.000003	D	0.88265	0.6390	H	0.97340	3.985	0.58432	D	0.999999	D;D;B	0.64830	0.968;0.994;0.371	P;P;B	0.59595	0.86;0.564;0.322	D	0.92323	0.5867	10	0.87932	D	0	.	15.1643	0.72811	0.0:0.0:1.0:0.0	.	247;351;351	E9PCL6;E9PDD5;P51553	.;.;IDH3G_HUMAN	V	351;351;293;247	ENSP00000359110:A351V;ENSP00000217901:A351V;ENSP00000408529:A293V	ENSP00000217901:A351V	A	-	2	0	IDH3G	152704889	1.000000	0.71417	0.993000	0.49108	0.569000	0.35902	3.915000	0.56409	2.285000	0.76669	0.431000	0.28591	GCT	IDH3G	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000067829		0.662	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	-	0	17	0	G			153051695	-1	tier1	-	no_errors	ENST00000217901	ensembl	human	known	74_37	missense	62.50	3	5	SNP	0.999	A	A	153051695	G	A	153051695	3	1	105	1	0	0	0	0	1	0	0	0	7525	971	34	3	200	3	IDH3G	23	153051695	Missense_Mutation	SNP	G	TCGA-LN-A49S-01A-11D-A247-09	8147365	153051695	2218865	202	29223											
UTY	7404	genome.wustl.edu	37	chrY	15591138	15591138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctggttgcttttaccttgCctagtagggtcttcgttctg	3	18	11	9	1	3	0	0	0	3	0	4	0	3	0	2	2	3	4	2	2	3	8			TCGA-LN-A49S-01A-11D-A247-09	TCGA-LN-A49S-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f510b615-094d-4ea3-8f92-09e80905a379	09fb63d6-c76c-4429-9bf7-e7479c4b834c	g.chrY:15591138C>A	ENST00000331397.4	-	2	1219	c.212G>T	c.(211-213)gGc>gTc	p.G71V	UTY_ENST00000537580.1_Missense_Mutation_p.G71V|UTY_ENST00000329134.5_Missense_Mutation_p.G71V|UTY_ENST00000545955.1_Missense_Mutation_p.G71V|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000382896.4_Missense_Mutation_p.G71V|UTY_ENST00000538878.1_Missense_Mutation_p.G71V|UTY_ENST00000382893.1_Missense_Mutation_p.G71V|UTY_ENST00000540140.1_Missense_Mutation_p.G71V|UTY_ENST00000362096.4_Missense_Mutation_p.G71V	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	71					regulation of gene expression (GO:0010468)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)			kidney(1)|lung(6)	7						TTTTACCTTGCCTAGTAGGGT	0.517																																					Colon(103;1740 2135 40732 45171)												0													66	72	70					Y																	15591138		593	1941	2534	SO:0001583	missense	0			AF000994	CCDS14783.1, CCDS14784.1, CCDS14785.1, CCDS59184.1, CCDS76073.1, CCDS76074.1, CCDS76075.1, CCDS76076.1, CCDS76077.1, CCDS76078.1, CCDS76079.1	Yq11.221	2013-11-04	2012-11-15		ENSG00000183878	ENSG00000183878		"Tetratricopeptide (TTC) repeat domain containing"	12638	protein-coding gene	gene with protein product		400009	"ubiquitously transcribed tetratricopeptide repeat gene, Y chromosome", "ubiquitously transcribed tetratricopeptide repeat gene, Y-linked"			8944031, 9499428	Standard	NM_182659		Approved	KDM6AL	uc022ckf.2	O14607	OTTHUMG00000036319	ENST00000331397.4:c.212G>T	Y.37:g.15591138C>A	ENSP00000328939:p.Gly71Val		A8K9Z3|E1U199|E1U1A0|F5H4V7|F8W8R7|O14608	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G71V	ENST00000331397.4	37	c.212	CCDS14783.1	Y																																																																																			UTY	-	NULL	ENSG00000183878		0.517	UTY-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UTY	HGNC	protein_coding	OTTHUMT00000088394.1	-	0	27	0	C	NM_182660		15591138	-1	tier1	-	no_errors	ENST00000382896	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	A	A	15591138	C	A	15591138	3	1	105	1	0	0	0	0	1	0	0	0	17156	739	26	3	4202	3	UTY	24	15591138	Missense_Mutation	SNP	C	TCGA-LN-A49S-01A-11D-A247-09		15591138	43782428	203	29224											
CDK11A	728642	genome.wustl.edu	37	chr1	1634944	1634944	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtcgaagccctggtctgaGagcagagccccgaagcgctt	9	6	14	12	3	1	2	0	1	1	2	2	5	1	2	3	2	4	2	3	2	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:1634944G>C	ENST00000378633.1	-	18	2119	c.2040C>G	c.(2038-2040)ctC>ctG	p.L680L	CDK11A_ENST00000357760.2_Silent_p.L676L|CDK11A_ENST00000358779.5_Silent_p.L667L|CDK11A_ENST00000356200.3_Silent_p.L643L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000404249.3_Silent_p.L677L|CDK11A_ENST00000378638.2_Silent_p.L643L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	680					apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CCTGGTCTGAGAGCAGAGCCC	0.602																																					Pancreas(186;965 2119 30274 40311 50569)												0													15	25	22					1																	1634944		1531	4014	5545	SO:0001819	synonymous_variant	0			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"Cyclin-dependent kinases"	1730	protein-coding gene	gene with protein product		116951	"cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)"	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.2040C>G	1.37:g.1634944G>C			O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L677	ENST00000378633.1	37	c.2031		1																																																																																			CDK11A	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000008128		0.602	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	-	0	72	0	G	NM_024011		1634944	-1	tier1	-	no_errors	ENST00000404249	ensembl	human	known	74_37	silent	34.83	58	31	SNP	0.993	C	C	1634944	G	C	1634944	2	2	106	1	0	0	0	0	0	0	0	1	3133	929	33	5		5	CDK11A	1	1634944	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		1634944	247615677	1	29225											
ESPN	83715	genome.wustl.edu	37	chr1	6517321	6517321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaagaagctggaagaagaGaggtgagctgggggtcaggc	12	4	20	5	1	1	4	1	1	0	3	1	7	1	6	0	6	2	2	0	6	4	0	rs145302595		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:6517321G>C	ENST00000377828.1	+	11	2571	c.2403G>C	c.(2401-2403)gaG>gaC	p.E801D	ESPN_ENST00000461727.1_Missense_Mutation_p.E235D|ESPN_ENST00000416731.1_Missense_Mutation_p.E235D|ESPN_ENST00000475228.1_3'UTR	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	801	Glu-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		TGGAAGAAGAGAGGTGAGCTG	0.617																																																	0													36	40	39					1																	6517321		2203	4300	6503	SO:0001583	missense	0			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"Ankyrin repeat domain containing"	13281	protein-coding gene	gene with protein product		606351	"deafness, autosomal recessive 36"	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.2403G>C	1.37:g.6517321G>C	ENSP00000367059:p.Glu801Asp		Q6XYB2|Q9H0A2|Q9Y329	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.E801D	ENST00000377828.1	37	c.2403	CCDS70.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.14|19.14	3.769835|3.769835	0.69992|0.69992	.|.	.|.	ENSG00000187017|ENSG00000187017	ENST00000377828;ENST00000416731|ENST00000434576	T;D|D	0.84442|0.84516	-0.37;-1.85|-1.86	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.109437|0.109437	0.64402|0.64402	N|D	0.000013|0.000013	D|D	0.88592|0.88592	0.6478|0.6478	M|M	0.64567|0.64567	1.98|1.98	0.43372|0.43372	D|D	0.995463|0.995463	B;P|.	0.46220|.	0.22;0.874|.	B;P|.	0.45794|.	0.1;0.493|.	D|D	0.89457|0.89457	0.3734|0.3734	10|8	0.37606|0.72032	T|D	0.19|0.01	-39.0921|-39.0921	12.8676|12.8676	0.57948|0.57948	0.0:0.1641:0.8359:0.0|0.0:0.1641:0.8359:0.0	.|.	235;801|.	B1AK53-2;B1AK53|.	.;ESPN_HUMAN|.	D|Q	801;235|145	ENSP00000367059:E801D;ENSP00000399239:E235D|ENSP00000413621:E145Q	ENSP00000367059:E801D|ENSP00000413621:E145Q	E|E	+|+	3|1	2|0	ESPN|ESPN	6439908|6439908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.628000|2.628000	0.46477|0.46477	2.350000|2.350000	0.79820|0.79820	0.561000|0.561000	0.74099|0.74099	GAG|GAG	ESPN	-	NULL	ENSG00000187017		0.617	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	-	0	80	0	G	NM_031475		6517321	1	tier1	-	no_errors	ENST00000377828	ensembl	human	known	74_37	missense	39.66	70	46	SNP	1.000	C	C	6517321	G	C	6517321	3	2	106	1	0	0	0	0	1	0	0	0	5270	933	33	5	2445	5	ESPN	1	6517321	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	4882377	6517321	242733300	2	29226											
KIF17	57576	genome.wustl.edu	37	chr1	21042067	21042067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccggcaggccctgcatggtGaaggacttcccgctgcctgt	5	9	13	14	2	0	1	0	1	0	0	2	2	2	2	4	4	2	3	4	4	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:21042067G>A	ENST00000247986.2	-	2	607	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KIF17_ENST00000375044.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.F99F			Q9P2E2	KIF17_HUMAN	kinesin family member 17	99	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)	p.F99F(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CCTGCATGGTGAAGGACTTCC	0.652																																																	1	Substitution - coding silent(1)	lung(1)											96	80	86					1																	21042067		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"Kinesins"	19167	protein-coding gene	gene with protein product	"kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein"	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.297C>T	1.37:g.21042067G>A			A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.F99	ENST00000247986.2	37	c.297	CCDS213.1	1																																																																																			KIF17	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000117245		0.652	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF17	HGNC	protein_coding	OTTHUMT00000276995.1	-	0	37	0	G	NM_020816		21042067	-1	tier1	-	no_errors	ENST00000247986	ensembl	human	known	74_37	silent	24.19	47	15	SNP	1.000	A	A	21042067	G	A	21042067	2	1	106	1	0	0	0	0	0	0	0	1	8306	1281	45	3		3	KIF17	1	21042067	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	14524746	21042067	228208554	3	29227											
HSPG2	3339	genome.wustl.edu	37	chr1	22202445	22202445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgttgttaccttgcaGcaccaccaacggctgcccgt	8	10	10	13	2	0	1	0	1	0	0	0	2	0	1	4	1	5	5	4	1	2	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:22202445G>T	ENST00000374695.3	-	24	3173	c.3094C>A	c.(3094-3096)Ctg>Atg	p.L1032M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1032	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTACCTTGCAGCACCACCAAC	0.632																																																	0													63	66	65					1																	22202445		2203	4300	6503	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3094C>A	1.37:g.22202445G>T	ENSP00000363827:p.Leu1032Met		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.L1032M	ENST00000374695.3	37	c.3094	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529195	0.64860	.	.	ENSG00000142798	ENST00000374695	T	0.51817	0.69	5.51	2.6	0.31112	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.31747	N	0.007121	T	0.62392	0.2424	M	0.71871	2.18	0.47511	D	0.999444	D	0.89917	1.0	D	0.91635	0.999	T	0.60250	-0.7300	10	0.72032	D	0.01	.	7.3152	0.26498	0.3562:0.0:0.6438:0.0	.	1032	P98160	PGBM_HUMAN	M	1032	ENSP00000363827:L1032M	ENSP00000363827:L1032M	L	-	1	2	HSPG2	22075032	1.000000	0.71417	0.853000	0.33588	0.809000	0.45718	2.964000	0.49192	0.279000	0.22186	0.561000	0.74099	CTG	HSPG2	-	pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV	ENSG00000142798		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0	56	0	G	NM_005529		22202445	-1			no_errors	ENST00000374695	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.997	T	T	22202445	G	T	22202445	3	4	106	1	0	0	0	0	1	0	0	0	7457	962	34	3	10377	3	HSPG2	1	22202445	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	1160378	22202445	227048176	4	29228											
ZMYM1	79830	genome.wustl.edu	37	chr1	35576032	35576032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgcatacagtaaagctaaGatggaatcttcttcaggtaa	14	12	8	7	0	4	1	1	0	3	1	4	2	4	2	0	2	3	4	0	2	6	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:35576032G>A	ENST00000373330.1	+	8	1119	c.945G>A	c.(943-945)aaG>aaA	p.K315K	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Silent_p.K315K			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	315						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTAAAGCTAAGATGGAATCTT	0.313																																																	0													178	166	169					1																	35576032		1867	4124	5991	SO:0001819	synonymous_variant	0			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"Zinc fingers, MYM type"	26253	protein-coding gene	gene with protein product			"zinc finger, MYM domain containing 1"			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.945G>A	1.37:g.35576032G>A			D3DPR7|Q7Z3Q4	Silent	SNP	pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.K315	ENST00000373330.1	37	c.945	CCDS41302.1	1																																																																																			ZMYM1	-	smart_TRASH_dom	ENSG00000197056		0.313	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	-	0	88	0	G	NM_024772		35576032	1	tier1	-	no_errors	ENST00000359858	ensembl	human	novel	74_37	silent	40.54	66	45	SNP	0.998	A	A	35576032	G	A	35576032	2	1	106	1	0	0	0	0	0	0	0	1	17747	933	33	3		3	ZMYM1	1	35576032	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	13373587	35576032	213674589	5	29229											
RIMKLA	284716	genome.wustl.edu	37	chr1	42880277	42880277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggacgatggctcctttGtggtgtgtgaggcaaatgct	7	13	14	7	1	1	1	1	1	0	0	2	3	2	2	1	4	1	3	1	4	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:42880277G>T	ENST00000431473.3	+	5	937	c.808G>T	c.(808-810)Gtg>Ttg	p.V270L		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	270	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TGGCTCCTTTGTGGTGTGTGA	0.488																																																	0													352	312	325					1																	42880277		2203	4300	6503	SO:0001583	missense	0			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"N-acetylaspartylglutamate synthetase II"		"family with sequence similarity 80, member A"	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.808G>T	1.37:g.42880277G>T	ENSP00000414330:p.Val270Leu		Q5VUS5	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.V270L	ENST00000431473.3	37	c.808	CCDS466.2	1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582063	0.28180	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.22	3.32	0.38043	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.119212	0.56097	D	0.000031	T	0.45377	0.1339	L	0.33485	1.01	0.37031	D	0.896677	B	0.22080	0.064	B	0.28305	0.088	T	0.42032	-0.9475	9	0.38643	T	0.18	-24.5937	9.1907	0.37197	0.1813:0.0:0.8187:0.0	.	270	Q8IXN7	RIMKA_HUMAN	L	270	.	ENSP00000414330:V270L	V	+	1	0	RIMKLA	42652864	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.947000	0.56652	0.580000	0.29522	0.555000	0.69702	GTG	RIMKLA	-	pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000177181		0.488	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLA	HGNC	protein_coding	OTTHUMT00000019174.3		0	64	0	G	NM_173642		42880277	1			no_errors	ENST00000431473	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.999	T	T	42880277	G	T	42880277	3	4	106	1	0	0	0	0	1	0	0	0	13410	1377	48	3	826	3	RIMKLA	1	42880277	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	7304245	42880277	206370344	6	29230											
ACOT11	26027	genome.wustl.edu	37	chr1	55064996	55064996	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccgtgcccaccctacgctGaaggccattgaaatgttcca	9	9	9	14	2	0	2	0	2	0	0	1	2	1	2	5	1	3	2	5	1	3	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:55064996G>A	ENST00000371316.3	+	8	874	c.792G>A	c.(790-792)ctG>ctA	p.L264L	ACOT11_ENST00000343744.2_Silent_p.L264L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	264	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						ACCCTACGCTGAAGGCCATTG	0.582																																					Ovarian(148;1440 1861 22015 32453 51933)												0													105	101	102					1																	55064996		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"Acyl CoA thioesterases", "StAR-related lipid transfer (START) domain containing"	18156	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 14"	606803	"thioesterase, adipose associated"	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.792G>A	1.37:g.55064996G>A			B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Silent	SNP	pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom	p.L264	ENST00000371316.3	37	c.792	CCDS592.1	1																																																																																			ACOT11	-	pfam_Thioestr_supf	ENSG00000162390		0.582	ACOT11-001	KNOWN	basic|CCDS	protein_coding	ACOT11	HGNC	protein_coding	OTTHUMT00000027356.1	-	0	26	0	G	NM_015547		55064996	1	tier1	-	no_errors	ENST00000371316	ensembl	human	known	74_37	silent	37.70	38	23	SNP	1.000	A	A	55064996	G	A	55064996	2	1	106	1	0	0	0	0	0	0	0	1	149	1277	45	3		3	ACOT11	1	55064996	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	12184719	55064996	194185625	7	29231											
ABCA4	24	genome.wustl.edu	37	chr1	94502905	94502905	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatcagctcatttacatcCcctaggacaagaaaaaagac	16	8	5	12	0	2	2	2	0	0	2	4	3	4	3	3	1	2	1	3	1	6	3	rs529982548		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:94502905C>A	ENST00000370225.3	-	25	3695	c.3609G>T	c.(3607-3609)ggG>ggT	p.G1203G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1203					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.G1203G(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATTTACATCCCCTAGGACAA	0.443																																																	1	Substitution - coding silent(1)	lung(1)											74	73	73					1																	94502905		2203	4300	6503	SO:0001630	splice_region_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.3608-1G>T	1.37:g.94502905C>A			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.G1203	ENST00000370225.3	37	c.3609	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.443	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1		0	18	0	C	NM_000350	Silent	94502905	-1			no_errors	ENST00000370225	ensembl	human	known	74_37	silent	12.50	21	3	SNP	0.997	A	A	94502905	C	A	94502905	5	1	106	1	0	0	0	0	0	0	1	0	34	637	22	3	3316	3	ABCA4	1	94502905	Splice_Site	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	39437909	94502905	154747716	8	29232											
SLAMF6	114836	genome.wustl.edu	37	chr1	160465850	160465850	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccccatattttgacttaCttaatatcctcagagtgtaa	14	14	4	9	0	1	2	1	1	0	1	2	2	2	2	3	0	2	1	3	0	6	7			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:160465850C>G	ENST00000368057.3	-	2	443		c.e2+1		SLAMF6_ENST00000368059.3_Splice_Site|SLAMF6_ENST00000368055.1_Intron			Q96DU3	SLAF6_HUMAN	SLAM family member 6							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTTTGACTTACTTAATATCCT	0.408																																																	0													93	95	95					1																	160465850		2203	4300	6503	SO:0001630	splice_region_variant	0			AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.382+1G>C	1.37:g.160465850C>G			A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Splice_Site	SNP	-	e2+1	ENST00000368057.3	37	c.382+1	CCDS53394.1	1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139949	0.37728	.	.	ENSG00000162739	ENST00000368059;ENST00000368057	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2187	0.59875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLAMF6	158732474	0.912000	0.30974	0.938000	0.37757	0.020000	0.10135	1.892000	0.39748	2.577000	0.86979	0.655000	0.94253	.	SLAMF6	-	-	ENSG00000162739		0.408	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF6	HGNC	protein_coding	OTTHUMT00000059010.1	-	0	80	0	C	NM_052931	Intron	160465850	-1	tier1	-	no_errors	ENST00000368057	ensembl	human	known	74_37	splice_site	20.93	102	27	SNP	0.956	G	G	160465850	C	G	160465850	5	3	106	1	0	0	0	0	0	0	1	0	14413	579	20	5	643	5	SLAMF6	1	160465850	Splice_Site	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	65962945	160465850	88784771	9	29233											
GPR52	9293	genome.wustl.edu	37	chr1	174418064	174418064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgtttaggataaccaGtgtattttatatgctgtggc	8	18	11	4	0	0	0	0	0	0	0	0	1	0	1	1	3	2	4	1	3	5	9			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:174418064G>A	ENST00000367685.2	+	1	853	c.815G>A	c.(814-816)aGt>aAt	p.S272N	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	272					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						AGGATAACCAGTGTATTTTAT	0.468																																					Ovarian(92;924 1390 1930 16467 40583)												0													116	117	117					1																	174418064		2203	4300	6503	SO:0001583	missense	0			AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"GPCR / Class A : Orphans"	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.815G>A	1.37:g.174418064G>A	ENSP00000356658:p.Ser272Asn		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S272N	ENST00000367685.2	37	c.815	CCDS30941.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182040	0.78677	.	.	ENSG00000203737	ENST00000367685	T	0.38077	1.16	6.16	6.16	0.99307	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	M	0.68317	2.08	0.43863	D	0.996469	D	0.89917	1.0	D	0.79784	0.993	T	0.60727	-0.7206	10	0.87932	D	0	-14.6501	20.8598	0.99761	0.0:0.0:1.0:0.0	.	272	Q9Y2T5	GPR52_HUMAN	N	272	ENSP00000356658:S272N	ENSP00000356658:S272N	S	+	2	0	GPR52	172684687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.441000	0.97557	2.937000	0.99478	0.650000	0.86243	AGT	GPR52	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000203737		0.468	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR52	HGNC	protein_coding	OTTHUMT00000084511.1	-	0	25	0	G	NM_005684		174418064	1	tier1	-	no_errors	ENST00000367685	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	A	A	174418064	G	A	174418064	3	1	106	1	0	0	0	0	1	0	0	0	6724	1029	36	3	817	3	GPR52	1	174418064	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	13952214	174418064	74832557	10	29234											
RASAL2	9462	genome.wustl.edu	37	chr1	178426981	178426981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcggagcgtctccctcatgGacctccaggacactcatgct	7	9	10	15	2	3	0	2	0	1	0	6	3	4	3	3	3	2	1	3	3	0	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:178426981G>A	ENST00000462775.1	+	12	2256	c.2131G>A	c.(2131-2133)Gac>Aac	p.D711N	RASAL2_ENST00000448150.3_Missense_Mutation_p.D841N|RASAL2_ENST00000367649.3_Missense_Mutation_p.D852N	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	711					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTCCCTCATGGACCTCCAGGA	0.507																																																	0													93	89	91					1																	178426981		2203	4300	6503	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2131G>A	1.37:g.178426981G>A	ENSP00000420558:p.Asp711Asn		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.D852N	ENST00000462775.1	37	c.2554	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.744868|4.744868	0.89663|0.89663	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.22336|.	1.96;1.96;1.96|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.054842|.	0.64402|.	D|.	0.000001|.	T|T	0.79076|0.79076	0.4385|0.4385	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.983;0.999;0.965|.	P;D;P|.	0.79108|.	0.874;0.992;0.602|.	T|T	0.79567|0.79567	-0.1750|-0.1750	10|5	0.72032|.	D|.	0.01|.	.|.	19.2521|19.2521	0.93929|0.93929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	841;711;852|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	N|E	841;852;711|261	ENSP00000407768:D841N;ENSP00000356621:D852N;ENSP00000420558:D711N|.	ENSP00000356621:D852N|.	D|G	+|+	1|2	0|0	RASAL2|RASAL2	176693604|176693604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.039000|9.039000	0.93777|0.93777	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GAC|GGA	RASAL2	-	pfam_DUF3498	ENSG00000075391		0.507	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	-	0	25	0	G	NM_170692		178426981	1	tier1	-	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	A	A	178426981	G	A	178426981	3	1	106	1	0	0	0	0	1	0	0	0	13109	1174	41	3	2646	3	RASAL2	1	178426981	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	4008917	178426981	70823640	11	29235											
RASAL2	9462	genome.wustl.edu	37	chr1	178427011	178427011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acactcatgctgctcaagtgGagcatgcatctgtcatgctt	9	12	9	11	0	4	0	3	0	1	0	4	1	4	1	0	1	5	5	0	1	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:178427011G>C	ENST00000462775.1	+	12	2286	c.2161G>C	c.(2161-2163)Gag>Cag	p.E721Q	RASAL2_ENST00000448150.3_Missense_Mutation_p.E851Q|RASAL2_ENST00000367649.3_Missense_Mutation_p.E862Q	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	721					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGCTCAAGTGGAGCATGCATC	0.522																																																	0													91	84	87					1																	178427011		2203	4300	6503	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"Pleckstrin homology (PH) domain containing"	9874	protein-coding gene	gene with protein product	"Ras GTPase activating protein-like", "Ras protein activator like 1"	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2161G>C	1.37:g.178427011G>C	ENSP00000420558:p.Glu721Gln		F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E862Q	ENST00000462775.1	37	c.2584	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.128|8.128	0.782394|0.782394	0.16189|0.16189	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.12039|.	2.72;2.72;2.72|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.255145|.	0.39146|.	N|.	0.001454|.	T|T	0.49115|0.49115	0.1538|0.1538	N|N	0.19112|0.19112	0.55|0.55	0.33894|0.33894	D|D	0.637704|0.637704	B;B;B|.	0.24043|.	0.02;0.096;0.039|.	B;B;B|.	0.33620|.	0.03;0.167;0.048|.	T|T	0.55503|0.55503	-0.8131|-0.8131	10|5	0.23891|.	T|.	0.37|.	.|.	19.2521|19.2521	0.93929|0.93929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	851;721;862|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	Q|A	851;862;721|271	ENSP00000407768:E851Q;ENSP00000356621:E862Q;ENSP00000420558:E721Q|.	ENSP00000356621:E862Q|.	E|G	+|+	1|2	0|0	RASAL2|RASAL2	176693634|176693634	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.744000|0.744000	0.42396|0.42396	3.999000|3.999000	0.57031|0.57031	2.542000|2.542000	0.85734|0.85734	0.655000|0.655000	0.94253|0.94253	GAG|GGA	RASAL2	-	pfam_DUF3498	ENSG00000075391		0.522	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	-	0	23	0	G	NM_170692		178427011	1	tier1	-	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	27.50	29	11	SNP	0.985	C	C	178427011	G	C	178427011	3	2	106	1	0	0	0	0	1	0	0	0	13109	1175	41	5	2676	5	RASAL2	1	178427011	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	30	178427011	70823610	12	29236											
C1orf26	54823	genome.wustl.edu	37	chr1	185144184	185144184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgttcatgagtggaaacGaaaacatcattatgaccatc	15	10	8	8	1	2	2	2	2	0	0	3	5	2	3	1	1	2	1	1	1	4	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:185144184G>A	ENST00000367500.4	+	5	1070	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	SWT1_ENST00000367501.3_Missense_Mutation_p.R302Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	302								p.R302Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GAGTGGAAACGAAAACATCAT	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											38	40	39					1																	185144184		2203	4298	6501	SO:0001583	missense	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 26"	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.905G>A	1.37:g.185144184G>A	ENSP00000356470:p.Arg302Gln		Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PIN_dom	p.R302Q	ENST00000367500.4	37	c.905	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270761	0.40194	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.17213	2.29;2.29	5.76	2.41	0.29592	.	0.964631	0.08608	N	0.920449	T	0.10680	0.0261	L	0.34521	1.04	0.09310	N	1	B	0.29115	0.233	B	0.17098	0.017	T	0.36529	-0.9744	10	0.13108	T	0.6	.	6.0281	0.19665	0.3842:0.0:0.6158:0.0	.	302	Q5T5J6	SWT1_HUMAN	Q	302	ENSP00000356471:R302Q;ENSP00000356470:R302Q	ENSP00000356470:R302Q	R	+	2	0	SWT1	183410807	0.006000	0.16342	0.055000	0.19348	0.454000	0.32378	0.320000	0.19540	0.638000	0.30545	0.650000	0.86243	CGA	SWT1	-	NULL	ENSG00000116668		0.348	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	-	0	45	0	G	NM_017673		185144184	1	tier1	-	no_errors	ENST00000367500	ensembl	human	known	74_37	missense	29.69	45	19	SNP	0.104	A	A	185144184	G	A	185144184	3	1	106	1	0	0	0	0	1	0	0	0	2042	1058	37	1	919	1	C1orf26	1	185144184	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	6717173	185144184	64106437	13	29237											
C1orf27	54953	genome.wustl.edu	37	chr1	186352217	186352217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccaaagaggagcaaagtGagaacctcaaacatcccaaa	19	3	7	12	0	1	2	1	1	0	2	2	4	2	3	3	1	3	1	3	1	5	0	rs143106529	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:186352217G>A	ENST00000287859.6	+	3	288	c.163G>A	c.(163-165)Gag>Aag	p.E55K	C1orf27_ENST00000419367.3_Missense_Mutation_p.E55K|C1orf27_ENST00000367470.3_Missense_Mutation_p.E55K|C1orf27_ENST00000432021.3_Missense_Mutation_p.E55K	NM_017847.5	NP_060317.3	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	55						integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GGAGCAAAGTGAGAACCTCAA	0.378																																																	0													64	67	66					1																	186352217		2000	4192	6192	SO:0001583	missense	0			BC003397	CCDS53448.1, CCDS53449.1, CCDS53450.1	1q25	2012-06-25			ENSG00000157181	ENSG00000157181			24299	protein-coding gene	gene with protein product	"transactivated by recombinant transforming growth factor beta"	609335				12868032	Standard	NM_017847		Approved	FLJ20505, odr-4, TTG1	uc021pgj.1	Q5SWX8	OTTHUMG00000035579	ENST00000287859.6:c.163G>A	1.37:g.186352217G>A	ENSP00000287859:p.Glu55Lys		B4DNY0|E9PFR7|Q19CC6|Q8WYB6|Q9BTS2|Q9H6A6|Q9NX06	Missense_Mutation	SNP	NULL	p.E55K	ENST00000287859.6	37	c.163	CCDS53448.1	1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174880	0.57692	.	.	ENSG00000157181	ENST00000367470;ENST00000419367;ENST00000432021;ENST00000287859	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.88	4.88	0.63580	.	0.324362	0.31784	N	0.007072	T	0.43500	0.1250	L	0.52364	1.645	0.39547	D	0.968917	P;B;B	0.36959	0.575;0.121;0.121	B;B;B	0.36845	0.234;0.046;0.046	T	0.47100	-0.9143	10	0.42905	T	0.14	-4.2729	13.9063	0.63839	0.0:0.0:1.0:0.0	.	55;55;55	E9PFR7;Q5SWX8-2;Q5SWX8	.;.;ODR4_HUMAN	K	55	ENSP00000356440:E55K;ENSP00000395084:E55K;ENSP00000402029:E55K;ENSP00000287859:E55K	ENSP00000287859:E55K	E	+	1	0	C1orf27	184618840	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	4.751000	0.62169	2.399000	0.81585	0.637000	0.83480	GAG	C1orf27	-	NULL	ENSG00000157181		0.378	C1orf27-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C1orf27	HGNC	protein_coding	OTTHUMT00000086352.2	-	0	63	0	G	NM_017847		186352217	1	tier1	-	no_errors	ENST00000287859	ensembl	human	known	74_37	missense	49.45	46	45	SNP	0.998	A	A	186352217	G	A	186352217	3	1	106	1	0	0	0	0	1	0	0	0	2043	1291	45	3	169	3	C1orf27	1	186352217	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	1208033	186352217	62898404	14	29238											
FAM5C	339479	genome.wustl.edu	37	chr1	190250712	190250712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagagtagcagatagcaaGaaatgtgtcccatatttctt	13	11	8	9	0	1	3	0	0	1	3	2	3	2	3	2	0	2	3	2	0	5	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:190250712G>C	ENST00000367462.3	-	3	636	c.405C>G	c.(403-405)ttC>ttG	p.F135L	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	135	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CAGATAGCAAGAAATGTGTCC	0.428																																																	0													87	87	87					1																	190250712		2203	4298	6501	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.405C>G	1.37:g.190250712G>C	ENSP00000356432:p.Phe135Leu		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F135L	ENST00000367462.3	37	c.405	CCDS1373.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.45|14.45	2.539006|2.539006	0.45176|0.45176	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000367462|ENST00000445957	D|T	0.84070|0.48836	-1.8|0.8	5.67|5.67	4.75|4.75	0.60458|0.60458	Membrane attack complex component/perforin (MACPF) domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42381|0.42381	0.1200|0.1200	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.06405|.	0.002|.	T|T	0.38735|0.38735	-0.9647|-0.9647	10|7	0.17369|0.87932	T|D	0.5|0	.|.	7.7055|7.7055	0.28648|0.28648	0.1736:0.0:0.8264:0.0|0.1736:0.0:0.8264:0.0	.|.	135|.	Q76B58|.	FAM5C_HUMAN|.	L|C	135|85	ENSP00000356432:F135L|ENSP00000393441:S85C	ENSP00000356432:F135L|ENSP00000393441:S85C	F|S	-|-	3|2	2|0	FAM5C|FAM5C	188517335|188517335	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.540000|3.540000	0.53611|0.53611	2.677000|2.677000	0.91161|0.91161	0.585000|0.585000	0.79938|0.79938	TTC|TCT	BRINP3	-	pfam_MACPF,smart_MACPF	ENSG00000162670		0.428	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0	46	0	G	NM_199051		190250712	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	20.83	57	15	SNP	1.000	C	C	190250712	G	C	190250712	3	2	106	1	0	0	0	0	1	0	0	0	5616	933	33	5	1919	5	FAM5C	1	190250712	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	3898495	190250712	58999909	15	29239											
CAMSAP1L1	23271	genome.wustl.edu	37	chr1	200826893	200826893	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttaaaggaaatggagaaAtcagatgccaacaacttctt	17	11	7	6	0	2	2	1	0	1	2	2	4	2	3	1	2	3	0	1	2	6	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:200826893A>G	ENST00000236925.4	+	18	4225	c.4176A>G	c.(4174-4176)aaA>aaG	p.K1392K	CAMSAP2_ENST00000358823.2_Silent_p.K1381K|CAMSAP2_ENST00000413307.2_Silent_p.K1365K			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1392	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AAATGGAGAAATCAGATGCCA	0.303																																																	0													64	69	67					1																	200826893		2203	4297	6500	SO:0001819	synonymous_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"calmodulin regulated spectrin-associated protein 1-like 1"	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4176A>G	1.37:g.200826893A>G			B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.K1392	ENST00000236925.4	37	c.4176		1																																																																																			CAMSAP2	-	pfam_CKK_domain,superfamily_PRC_barrel-like	ENSG00000118200		0.303	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	-	0	23	0	A	NM_203459		200826893	1	tier1	-	no_errors	ENST00000236925	ensembl	human	known	74_37	silent	55.17	26	32	SNP	0.999	G	G	200826893	A	G	200826893	2	3	106	1	0	0	0	0	0	0	0	1	2619	98	4	4		4	CAMSAP1L1	1	200826893	Silent	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	10576181	200826893	48423728	16	29240											
IGFN1	91156	genome.wustl.edu	37	chr1	201185638	201185638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattgccatagggctggcGtctgcctccgctggcggccc	4	8	15	14	3	1	0	0	0	1	0	2	1	2	1	4	5	2	2	4	5	1	2	rs574892301	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:201185638G>A	ENST00000335211.4	+	16	9482	c.9352G>A	c.(9352-9354)Gtc>Atc	p.V3118I	IGFN1_ENST00000295591.8_Missense_Mutation_p.V278I	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	661						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAGGGCTGGCGTCTGCCTCCG	0.647													G|||	2	0.000399361	0	0.0029	5008	,	,		11366	0		0	False		,,,				2504	0																0													21	23	22					1																	201185638		2203	4299	6502	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9352G>A	1.37:g.201185638G>A	ENSP00000334714:p.Val3118Ile		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.V3118I	ENST00000335211.4	37	c.9352	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.36|11.36	1.614618|1.614618	0.28712|0.28712	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.57907	.|0.37;0.37	4.06|4.06	1.99|1.99	0.26369|0.26369	.|.	.|0.161370	.|0.42053	.|D	.|0.000777	T|T	0.29976|0.29976	0.0750|0.0750	N|N	0.26042|0.26042	0.785|0.785	0.09310|0.09310	N|N	0.999999|0.999999	.|P	.|0.37441	.|0.595	.|B	.|0.34346	.|0.18	T|T	0.11717|0.11717	-1.0576|-1.0576	5|10	.|0.13470	.|T	.|0.59	.|.	6.3698|6.3698	0.21475|0.21475	0.3706:0.0:0.6294:0.0|0.3706:0.0:0.6294:0.0	.|.	.|3118	.|F8WAI1	.|.	H|I	535|3118;278	.|ENSP00000334714:V3118I;ENSP00000295591:V278I	.|ENSP00000295591:V278I	R|V	+|+	2|1	0|0	IGFN1|IGFN1	199452261|199452261	0.295000|0.295000	0.24389|0.24389	0.709000|0.709000	0.30452|0.30452	0.695000|0.695000	0.40330|0.40330	0.868000|0.868000	0.27982|0.27982	0.921000|0.921000	0.36994|0.36994	0.561000|0.561000	0.74099|0.74099	CGT|GTC	IGFN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000163395		0.647	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0	63	0	G	NM_178275		201185638	1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	26.32	84	30	SNP	0.080	A	A	201185638	G	A	201185638	3	1	106	1	0	0	0	0	1	0	0	0	7617	1145	40	1	9410	1	IGFN1	1	201185638	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	358745	201185638	48064983	17	29241											
RCOR3	55758	genome.wustl.edu	37	chr1	211447585	211447585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattgcaaaggaaaagcAtggctacaatgtggaacagg	16	7	12	6	0	0	0	0	0	0	0	0	2	0	2	0	4	5	4	0	4	7	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:211447585A>G	ENST00000367005.4	+	3	302	c.161A>G	c.(160-162)cAt>cGt	p.H54R	RCOR3_ENST00000367006.4_Missense_Mutation_p.H112R|RCOR3_ENST00000452621.2_Missense_Mutation_p.H112R|RCOR3_ENST00000419091.2_Missense_Mutation_p.H112R	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	54	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		AAGGAAAAGCATGGCTACAAT	0.323																																																	0													85	74	78					1																	211447585		2203	4300	6503	SO:0001583	missense	0			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.161A>G	1.37:g.211447585A>G	ENSP00000355972:p.His54Arg		B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.H54R	ENST00000367005.4	37	c.161	CCDS31016.1	1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149867	0.78001	.	.	ENSG00000117625	ENST00000534478;ENST00000533469;ENST00000367006;ENST00000452621;ENST00000419091;ENST00000367005	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.58	5.58	0.84498	ELM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	M	0.80183	2.485	0.80722	D	1	D;P;B;P	0.76494	0.999;0.559;0.164;0.679	D;P;B;B	0.64144	0.922;0.519;0.316;0.29	T	0.65088	-0.6253	10	0.36615	T	0.2	-23.1253	16.0283	0.80558	1.0:0.0:0.0:0.0	.	112;54;112;112	Q9P2K3-3;Q9P2K3;Q9P2K3-2;Q9P2K3-4	.;RCOR3_HUMAN;.;.	R	54;54;112;112;112;54	ENSP00000436057:H54R;ENSP00000436838:H54R;ENSP00000355973:H112R;ENSP00000398558:H112R;ENSP00000413929:H112R;ENSP00000355972:H54R	ENSP00000355972:H54R	H	+	2	0	RCOR3	209514208	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.236000	0.95360	2.244000	0.73946	0.477000	0.44152	CAT	RCOR3	-	pfscan_ELM2_dom	ENSG00000117625		0.323	RCOR3-001	KNOWN	basic|CCDS	protein_coding	RCOR3	HGNC	protein_coding	OTTHUMT00000089821.1	-	0	80	0	A	NM_018254		211447585	1	tier1	-	no_errors	ENST00000367005	ensembl	human	known	74_37	missense	25.41	91	31	SNP	1.000	G	G	211447585	A	G	211447585	3	3	106	1	0	0	0	0	1	0	0	0	13229	217	8	4	349	4	RCOR3	1	211447585	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	10261947	211447585	37803036	18	29242											
CENPF	1063	genome.wustl.edu	37	chr1	214802455	214802455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgtcagcgacaaaatgcaGaaagtgccagatgttctctg	12	10	11	8	1	2	2	1	0	1	2	3	3	2	2	1	0	3	3	1	0	3	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:214802455G>A	ENST00000366955.3	+	8	1303	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAAAATGCAGAAAGTGCCAG	0.333																																					Colon(80;575 1284 11000 14801 43496)												0													65	70	68					1																	214802455		2202	4300	6502	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.1135G>A	1.37:g.214802455G>A	ENSP00000355922:p.Glu379Lys		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.E379K	ENST00000366955.3	37	c.1135	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.341690	0.95783	.	.	ENSG00000117724	ENST00000366955	T	0.80480	-1.38	5.61	5.61	0.85477	.	0.219538	0.23102	N	0.051910	D	0.90435	0.7005	.	.	.	0.46499	D	0.999072	D	0.89917	1.0	D	0.74348	0.983	D	0.91007	0.4847	9	0.72032	D	0.01	.	19.237	0.93864	0.0:0.0:1.0:0.0	.	379	P49454	CENPF_HUMAN	K	379	ENSP00000355922:E379K	ENSP00000355922:E379K	E	+	1	0	CENPF	212869078	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.767000	0.85331	2.640000	0.89533	0.655000	0.94253	GAA	CENPF	-	NULL	ENSG00000117724		0.333	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	-	0	47	0	G	NM_016343		214802455	1	tier1	-	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	27.85	57	22	SNP	1.000	A	A	214802455	G	A	214802455	3	1	106	1	0	0	0	0	1	0	0	0	3238	943	33	3	1161	3	CENPF	1	214802455	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	3354870	214802455	34448166	19	29243											
GJC2	57165	genome.wustl.edu	37	chr1	228346302	228346302	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgcctgtgcctgctgctCaacctctgtgagatggccca	6	10	11	14	0	2	1	1	1	1	1	2	2	2	1	4	1	6	3	4	1	1	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:228346302C>T	ENST00000366714.2	+	2	1018	c.843C>T	c.(841-843)ctC>ctT	p.L281L		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	281					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				GCCTGCTGCTCAACCTCTGTG	0.721																																																	0													61	64	63					1																	228346302		2203	4300	6503	SO:0001819	synonymous_variant	0			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"Ion channels / Gap junction proteins (connexins)"	17494	protein-coding gene	gene with protein product	"connexin 47"	608803	"gap junction protein, alpha 12, 47kDa"	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.843C>T	1.37:g.228346302C>T			O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L281	ENST00000366714.2	37	c.843	CCDS1569.1	1																																																																																			GJC2	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000198835		0.721	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC2	HGNC	protein_coding	OTTHUMT00000095985.1	-	0	27	0	C	NM_020435		228346302	1	tier1	-	no_errors	ENST00000366714	ensembl	human	known	74_37	silent	26.67	33	12	SNP	0.857	T	T	228346302	C	T	228346302	2	4	106	1	0	0	0	0	0	0	0	1	6441	813	29	3		3	GJC2	1	228346302	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	13543847	228346302	20904319	20	29244											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232579369	232579369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtcgtagcccacttgtggtCtccagggtccgctcccgccg	3	9	12	17	5	1	0	0	0	1	0	5	0	3	0	5	2	1	2	5	2	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:232579369C>T	ENST00000366630.1	-	11	3774	c.3416G>A	c.(3415-3417)aGa>aAa	p.R1139K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1139K|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R213K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1139					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CACTTGTGGTCTCCAGGGTCC	0.507																																																	0													83	93	90					1																	232579369		1915	4127	6042	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3416G>A	1.37:g.232579369C>T	ENSP00000355589:p.Arg1139Lys		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.R1139K	ENST00000366630.1	37	c.3416	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345338	0.61073	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.77750	-1.12;-1.12;2.87	5.75	5.75	0.90469	.	0.131822	0.53938	D	0.000054	T	0.80014	0.4546	M	0.67397	2.05	0.34829	D	0.739506	B;P	0.46859	0.2;0.885	B;P	0.44946	0.036;0.465	D	0.84743	0.0752	10	0.39692	T	0.17	-30.3068	18.1467	0.89659	0.0:1.0:0.0:0.0	.	1139;213	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	K	1139;1139;213	ENSP00000355589:R1139K;ENSP00000262861:R1139K;ENSP00000309102:R213K	ENSP00000262861:R1139K	R	-	2	0	SIPA1L2	230645992	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.934000	0.56553	2.701000	0.92244	0.650000	0.86243	AGA	SIPA1L2	-	NULL	ENSG00000116991		0.507	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0	22	0	C	XM_045839		232579369	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	16.07	47	9	SNP	1.000	T	T	232579369	C	T	232579369	3	4	106	1	0	0	0	0	1	0	0	0	14375	913	32	3	1800	3	SIPA1L2	1	232579369	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	4233067	232579369	16671252	21	29245											
ACTN2	88	genome.wustl.edu	37	chr1	236914838	236914838	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggagagcggcagtccatCatggccatccagaacgaggt	11	5	14	11	3	1	2	1	0	0	2	3	5	3	2	3	4	2	1	3	4	1	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:236914838C>A	ENST00000366578.4	+	15	1891	c.1725C>A	c.(1723-1725)atC>atA	p.I575I	ACTN2_ENST00000542672.1_Silent_p.I575I|ACTN2_ENST00000546208.1_Silent_p.I69I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	575					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGCAGTCCATCATGGCCATCC	0.547																																																	0													100	84	89					1																	236914838		2203	4300	6503	SO:0001819	synonymous_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"EF-hand domain containing"	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1725C>A	1.37:g.236914838C>A			B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.I575	ENST00000366578.4	37	c.1725	CCDS1613.1	1																																																																																			ACTN2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000077522		0.547	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	-	0	76	0	C	NM_001103		236914838	1	tier1	-	no_errors	ENST00000366578	ensembl	human	known	74_37	silent	23.02	97	29	SNP	0.571	A	A	236914838	C	A	236914838	2	1	106	1	0	0	0	0	0	0	0	1	205	816	29	3		3	ACTN2	1	236914838	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	4335469	236914838	12335783	22	29246											
OR2G6	391211	genome.wustl.edu	37	chr1	248685431	248685431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctaattcagtgctccCtcactgtgcagctgcccctc	5	11	6	19	0	2	0	2	0	0	0	5	0	4	0	5	0	4	3	5	0	1	2	rs568353162	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:248685431C>T	ENST00000343414.4	+	1	516	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGTGCTCCCTCACTGTGCA	0.557																																																	0													88	71	77					1																	248685431		2203	4300	6503	SO:0001583	missense	0				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"GPCR / Class A : Olfactory receptors"	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.484C>T	1.37:g.248685431C>T	ENSP00000341291:p.Leu162Phe		B2RP33	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L162F	ENST00000343414.4	37	c.484	CCDS31119.1	1	.	.	.	.	.	.	.	.	.	.	N	7.096	0.573099	0.13623	.	.	ENSG00000188558	ENST00000343414	T	0.00145	8.67	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.196341	0.25047	U	0.033541	T	0.00144	0.0004	L	0.39514	1.22	0.20307	N	0.999917	B	0.22480	0.07	B	0.26969	0.075	T	0.22417	-1.0217	10	0.38643	T	0.18	.	10.3544	0.43956	0.1971:0.8029:0.0:0.0	.	162	Q5TZ20	OR2G6_HUMAN	F	162	ENSP00000341291:L162F	ENSP00000341291:L162F	L	+	1	0	OR2G6	246752054	0.000000	0.05858	0.050000	0.19076	0.210000	0.24377	-1.545000	0.02190	1.869000	0.54173	0.400000	0.26472	CTC	OR2G6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188558		0.557	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G6	HGNC	protein_coding	OTTHUMT00000097358.1	-	0	33	0	C	XM_372842		248685431	1	tier1	-	no_errors	ENST00000343414	ensembl	human	known	74_37	missense	28.95	54	22	SNP	0.410	T	T	248685431	C	T	248685431	3	4	106	1	0	0	0	0	1	0	0	0	11039	681	24	3	486	3	OR2G6	1	248685431	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	11770593	248685431	565190	23	29247											
ZNF672	79894	genome.wustl.edu	37	chr1	249142293	249142293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttccacgctgctgcgccatCggcgcagccatcagggcgag	6	6	14	15	5	1	0	1	0	0	0	3	1	2	0	3	2	3	4	3	2	0	1	rs371348856		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr1:249142293C>T	ENST00000306562.3	+	4	1566	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTGCGCCATCGGCGCAGCCA	0.687																																																	0																																										SO:0001583	missense	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"Zinc fingers, C2H2-type"	26179	protein-coding gene	gene with protein product	"hypothetical protein FLJ22301"					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.820C>T	1.37:g.249142293C>T	ENSP00000421915:p.Arg274Trp		Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R274W	ENST00000306562.3	37	c.820	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853186	0.51270	.	.	ENSG00000171161	ENST00000306562	T	0.18810	2.19	3.32	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.522525	0.14222	U	0.333358	T	0.31071	0.0785	M	0.70787	2.145	0.09310	N	1	D	0.69078	0.997	P	0.51229	0.663	T	0.12218	-1.0556	9	.	.	.	.	9.6637	0.39972	0.3584:0.6416:0.0:0.0	.	274	Q499Z4	ZN672_HUMAN	W	274	ENSP00000421915:R274W	.	R	+	1	2	ZNF672	247108916	0.022000	0.18835	0.603000	0.28903	0.566000	0.35808	0.651000	0.24873	0.217000	0.20800	0.561000	0.74099	CGG	ZNF672	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.687	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	-	0	17	0	C	NM_024836		249142293	1	tier1	-	no_errors	ENST00000306562	ensembl	human	known	74_37	missense	26.92	19	7	SNP	0.337	T	T	249142293	C	T	249142293	3	4	106	1	0	0	0	0	1	0	0	0	18127	875	31	1	822	1	ZNF672	1	249142293	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	456862	249142293	108328	24	29248											
KLF11	8462	genome.wustl.edu	37	chr2	10187774	10187775	+	Intron	INS	-	-	A																															aacatggtacttttttttttINSagtgcataactcctcctcag																										TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:10187774_10187775insA	ENST00000305883.1	+	3	474				KLF11_ENST00000540845.1_Intron|KLF11_ENST00000535335.1_Intron	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11						apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CTTTTTTTTTTAGTGCATAACT	0.406																																					Melanoma(56;431 1507 23687 50789)												0																																										SO:0001627	intron_variant	0			AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	11811	protein-coding gene	gene with protein product		603301	"TGFB inducible early growth response 2"	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.313-2->A	2.37:g.10187775_10187775dupA			B4DZE7|Q9EPF4	Splice_Site	INS	-	e3-2	ENST00000305883.1	37	c.313-3_313-2	CCDS1668.1	2																																																																																			KLF11	-	-	ENSG00000172059		0.406	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLF11	HGNC	protein_coding	OTTHUMT00000239202.3		0	43	0	-	NM_003597		10187775	1	tier1		no_errors	ENST00000305883	ensembl	human	known	74_37	splice_site_ins	28.89	32	13	INS	0.309:1.000	A	A	10187775	-	A	10187774	6	5	106	0	1	1	1	0	0	0	0	0	8366	1769	61	0		0	KLF11	2	10187774	Intron	INS	-	TCGA-LN-A49U-01A-31D-A27G-09		10187774	233011599	25	29249											
MTIF2	4528	genome.wustl.edu	37	chr2	55470218	55470218	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaaccatcaacatcaccTaaatacagaaaaagtttata	21	8	3	9	0	2	2	2	0	0	2	2	2	2	2	2	0	3	1	2	0	9	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:55470218T>C	ENST00000263629.4	-	13	1880		c.e13-2		MTIF2_ENST00000403721.1_Splice_Site|MTIF2_ENST00000394600.3_Splice_Site	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CAACATCACCTAAATACAGAA	0.328																																																	0													78	70	72					2																	55470218		2203	4300	6503	SO:0001630	splice_region_variant	0			L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1565-2A>G	2.37:g.55470218T>C			D6W5D0	Splice_Site	SNP	-	e10-2	ENST00000263629.4	37	c.1565-2	CCDS1853.1	2	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127530	0.77549	.	.	ENSG00000085760	ENST00000403721;ENST00000263629;ENST00000394600;ENST00000418823	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2108	0.82158	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MTIF2	55323722	1.000000	0.71417	0.997000	0.53966	0.826000	0.46750	7.739000	0.84976	2.232000	0.73038	0.533000	0.62120	.	MTIF2	-	-	ENSG00000085760		0.328	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTIF2	HGNC	protein_coding	OTTHUMT00000251486.4	-	0	12	0	T	NM_002453	Intron	55470218	-1	tier1	-	no_errors	ENST00000263629	ensembl	human	known	74_37	splice_site	48.00	13	12	SNP	1.000	C	C	55470218	T	C	55470218	5	2	106	1	0	0	0	0	0	0	1	0	9972	1536	53	4	636	4	MTIF2	2	55470218	Splice_Site	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	45282444	55470218	187729155	26	29250											
AFF3	3899	genome.wustl.edu	37	chr2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-																															ctggaggagctgctgctgccGctgctgctgctgctgctgct																										TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	419	Poly-Ser.				embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685																																																	0									,	365,3157		33,299,1429					,	-5.4	0.9			10	878,6286		79,720,2783	no	coding,coding	AFF3	NM_002285.2,NM_001025108.1	,	112,1019,4212	A1A1,A1R,RR		12.2557,10.3634,11.632	,	,		1243,9443				SO:0001651	inframe_deletion	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"lymphoid nuclear protein related to AF4"	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1255_1257delAGC	2.37:g.100218020_100218022delGCT	ENSP00000387207:p.Ser419del		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	pfam_TF_AF4/FMR2	p.S444in_frame_del	ENST00000409236.2	37	c.1332_1330	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.685	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3		0	33	0	GCT	NM_002285		100218013	-1	tier1		no_errors	ENST00000356421	ensembl	human	known	74_37	in_frame_del	12.50	35	5	DEL	1.000:1.000:1.000	-	-	100218013	GCT	-	100218011	7	5	106	1	0	1	0	1	0	0	0	0	358	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-LN-A49U-01A-31D-A27G-09	44747793	100218011	142981362	27	29251											
EPB41L5	57669	genome.wustl.edu	37	chr2	120799600	120799600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaaaagccaaaggacaaGagttgtttgatcagattatg	18	9	10	4	0	1	4	1	1	0	3	1	5	1	5	1	1	1	2	1	1	6	3	rs142458983		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:120799600G>A	ENST00000263713.5	+	3	413	c.199G>A	c.(199-201)Gag>Aag	p.E67K	EPB41L5_ENST00000443124.1_Missense_Mutation_p.E67K|EPB41L5_ENST00000331393.4_Missense_Mutation_p.E67K|EPB41L5_ENST00000452780.1_Missense_Mutation_p.E67K|EPB41L5_ENST00000443902.2_Missense_Mutation_p.E67K	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	67	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAAAGGACAAGAGTTGTTTGA	0.348																																																	0													157	150	152					2																	120799600		2203	4300	6503	SO:0001583	missense	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.199G>A	2.37:g.120799600G>A	ENSP00000263713:p.Glu67Lys		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.E67K	ENST00000263713.5	37	c.199	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133311	0.56828	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.18	5.18	0.71444	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.496080	0.17838	N	0.160299	D	0.83166	0.5195	M	0.89601	3.045	0.58432	D	0.999993	P;B;P	0.45044	0.818;0.234;0.849	B;B;B	0.43990	0.311;0.197;0.438	D	0.84709	0.0733	10	0.39692	T	0.17	.	13.8361	0.63410	0.0:0.1544:0.8456:0.0	.	67;67;67	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	K	67	ENSP00000263713:E67K;ENSP00000393856:E67K;ENSP00000329687:E67K;ENSP00000393722:E67K;ENSP00000390439:E67K	ENSP00000263713:E67K	E	+	1	0	EPB41L5	120516070	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	7.137000	0.77295	2.420000	0.82092	0.460000	0.39030	GAG	EPB41L5	-	pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like	ENSG00000115109		0.348	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	-	0	57	0	G	NM_020909		120799600	1	tier1	-	no_errors	ENST00000263713	ensembl	human	known	74_37	missense	31.67	41	19	SNP	1.000	A	A	120799600	G	A	120799600	3	1	106	1	0	0	0	0	1	0	0	0	5173	943	33	3	205	3	EPB41L5	2	120799600	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	20581589	120799600	122399773	28	29252											
NEB	4703	genome.wustl.edu	37	chr2	152411479	152411479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaactcggaggcaccgtGctgtgttcggatcatcgtca	7	10	12	12	4	2	0	2	0	0	0	5	2	2	2	2	3	3	3	2	3	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:152411479G>A	ENST00000172853.10	-	97	14438	c.14291C>T	c.(14290-14292)gCa>gTa	p.A4764V	NEB_ENST00000397345.3_Missense_Mutation_p.A6465V|NEB_ENST00000604864.1_Missense_Mutation_p.A6465V|NEB_ENST00000603639.1_Missense_Mutation_p.A6465V|NEB_ENST00000409198.1_Missense_Mutation_p.A4764V|NEB_ENST00000427231.2_Missense_Mutation_p.A6465V			P20929	NEBU_HUMAN	nebulin	4764					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGCACCGTGCTGTGTTCGG	0.423																																																	0													181	182	181					2																	152411479		2077	4227	6304	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14291C>T	2.37:g.152411479G>A	ENSP00000172853:p.Ala4764Val		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A6465V	ENST00000172853.10	37	c.19394		2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083738	0.76642	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.10763	2.91;2.86;2.85;2.84;2.91	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	N	0.20483	0.58	0.80722	D	1	D;P	0.76494	0.999;0.885	D;P	0.87578	0.998;0.61	T	0.02339	-1.1174	10	0.32370	T	0.25	.	17.0623	0.86550	0.0:0.0:0.8725:0.1275	.	4764;1195	P20929;Q14215	NEBU_HUMAN;.	V	4764;6465;6465;813;1195;4764	ENSP00000386259:A4764V;ENSP00000380505:A6465V;ENSP00000416578:A6465V;ENSP00000410961:A1195V;ENSP00000172853:A4764V	ENSP00000172853:A4764V	A	-	2	0	NEB	152119725	1.000000	0.71417	0.974000	0.42286	0.963000	0.63663	5.657000	0.67996	2.941000	0.99782	0.655000	0.94253	GCA	NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.423	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0	98	0	G	NM_004543		152411479	-1			no_errors	ENST00000397345	ensembl	human	known	74_37	missense	5.43	87	5	SNP	0.991	A	A	152411479	G	A	152411479	3	1	106	1	0	0	0	0	1	0	0	0	10341	1319	46	3	6524	3	NEB	2	152411479	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	31611879	152411479	90787894	29	29253											
SP3	6670	genome.wustl.edu	37	chr2	174774748	174774748	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaggatatcttgattgctgGtggcggaagtattaacagtt	11	14	12	4	1	1	1	0	1	1	0	1	3	1	3	0	4	2	3	0	4	5	7			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:174774748G>C	ENST00000310015.6	-	7	2797	c.2267C>G	c.(2266-2268)aCc>aGc	p.T756S	SP3_ENST00000455789.2_Missense_Mutation_p.T703S|SP3_ENST00000418194.2_Missense_Mutation_p.T688S	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	756					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGATTGCTGGTGGCGGAAGT	0.378																																																	0													115	107	110					2																	174774748		2203	4300	6503	SO:0001583	missense	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2267C>G	2.37:g.174774748G>C	ENSP00000310301:p.Thr756Ser		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T756S	ENST00000310015.6	37	c.2267	CCDS2254.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331756|1.331756	0.24167|0.24167	.|.	.|.	ENSG00000172845|ENSG00000172845	ENST00000416195|ENST00000310015;ENST00000455789;ENST00000418194	.|T;T;T	.|0.04809	.|3.55;3.55;3.55	5.58|5.58	4.7|4.7	0.59300|0.59300	.|.	.|0.237699	.|0.41500	.|D	.|0.000864	T|T	0.04770|0.04770	0.0129|0.0129	L|L	0.36672|0.36672	1.1|1.1	0.36847|0.36847	D|D	0.887681|0.887681	.|B;B;B	.|0.19583	.|0.037;0.037;0.023	.|B;B;B	.|0.15484	.|0.01;0.01;0.013	T|T	0.32134|0.32134	-0.9918|-0.9918	5|10	.|0.09590	.|T	.|0.72	.|.	14.8518|14.8518	0.70303|0.70303	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	.|753;756;703	.|B7ZLN9;Q02447;Q02447-6	.|.;SP3_HUMAN;.	A|S	713|756;703;688	.|ENSP00000310301:T756S;ENSP00000388903:T703S;ENSP00000406140:T688S	.|ENSP00000310301:T756S	P|T	-|-	1|2	0|0	SP3|SP3	174482994|174482994	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.316000|4.316000	0.59178|0.59178	2.632000|2.632000	0.89209|0.89209	0.655000|0.655000	0.94253|0.94253	CCA|ACC	SP3	-	NULL	ENSG00000172845		0.378	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	-	0	34	0	G	NM_003111		174774748	-1	tier1	-	no_errors	ENST00000310015	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	C	C	174774748	G	C	174774748	3	2	106	1	0	0	0	0	1	0	0	0	15010	1261	44	5	82	5	SP3	2	174774748	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	22363269	174774748	68424625	30	29254											
BCS1L	617	genome.wustl.edu	37	chr2	219527683	219527683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatggtgtggcttccaccGaggcccgcatcgtgttcatg	5	11	14	11	3	1	0	1	0	0	0	3	2	2	1	3	4	0	3	3	4	0	2	rs372817977		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:219527683G>A	ENST00000431802.1	+	7	1666	c.967G>A	c.(967-969)Gag>Aag	p.E323K	BCS1L_ENST00000439945.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392111.2_Missense_Mutation_p.E323K|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000359273.3_Missense_Mutation_p.E323K|BCS1L_ENST00000392110.2_Missense_Mutation_p.E323K|BCS1L_ENST00000412366.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392109.1_Missense_Mutation_p.E323K			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	323					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCCACCGAGGCCCGCAT	0.567																																																	0								G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	115	101	106		967,967	4.9	1	2		106	0,8600		0,0,4300	no	missense,missense	BCS1L	NM_001079866.1,NM_004328.4	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	323/420,323/420	219527683	1,13005	2203	4300	6503	SO:0001583	missense	0			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"ATPases / AAA-type", "Mitochondrial respiratory chain complex assembly factors"	1020	protein-coding gene	gene with protein product	"GRACILE syndrome", "Bjornstad syndrome"	603647	"BCS1 (yeast homolog)-like", "BCS1-like (yeast)", "BCS1-like (S. cerevisiae)"			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.967G>A	2.37:g.219527683G>A	ENSP00000413908:p.Glu323Lys		B3KTW9|Q7Z2V7	Missense_Mutation	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E323K	ENST00000431802.1	37	c.967	CCDS2419.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.663111|4.663111	0.88251|0.88251	2.27E-4|2.27E-4	0.0|0.0	ENSG00000074582|ENSG00000074582	ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802|ENST00000426649	D;D;D;D;D;D;D|.	0.93811|.	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29|.	4.94|4.94	4.94|4.94	0.65067|0.65067	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75213|0.75213	0.3819|0.3819	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70487|.	0.969|.	T|T	0.74662|0.74662	-0.3590|-0.3590	10|5	0.87932|.	D|.	0|.	-14.2648|-14.2648	18.357|18.357	0.90361|0.90361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323|.	Q9Y276|.	BCS1_HUMAN|.	K|Q	323|104	ENSP00000352219:E323K;ENSP00000375957:E323K;ENSP00000375958:E323K;ENSP00000375959:E323K;ENSP00000406494:E323K;ENSP00000404999:E323K;ENSP00000413908:E323K|.	ENSP00000352219:E323K|.	E|R	+|+	1|2	0|0	BCS1L|BCS1L	219235927|219235927	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.321000|0.321000	0.28281|0.28281	9.612000|9.612000	0.98347|0.98347	2.560000|2.560000	0.86352|0.86352	0.561000|0.561000	0.74099|0.74099	GAG|CGA	BCS1L	-	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000074582		0.567	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	-	0	55	0	G	NM_004328		219527683	1	tier1	-	no_errors	ENST00000359273	ensembl	human	known	74_37	missense	39.34	37	24	SNP	1.000	A	A	219527683	G	A	219527683	3	1	106	1	0	0	0	0	1	0	0	0	1390	1059	37	1	989	1	BCS1L	2	219527683	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	44752935	219527683	23671690	31	29255											
C2orf24	27013	genome.wustl.edu	37	chr2	220037669	220037669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggagacattagcgagaGacggcaggcattgtggcaca	12	6	15	8	2	0	2	0	0	0	2	0	5	0	2	0	4	2	4	0	4	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:220037669G>A	ENST00000409789.1	-	9	1299	c.872C>T	c.(871-873)tCt>tTt	p.S291F	SLC23A3_ENST00000396775.3_5'Flank|SLC23A3_ENST00000295738.7_5'Flank|CNPPD1_ENST00000360507.5_Missense_Mutation_p.S291F|SLC23A3_ENST00000409878.3_5'Flank|SLC23A3_ENST00000455516.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	291					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						ATTAGCGAGAGACGGCAGGCA	0.632																																																	0													100	84	90					2																	220037669		2203	4300	6503	SO:0001583	missense	0			AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"chromosome 2 open reading frame 24"	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.872C>T	2.37:g.220037669G>A	ENSP00000386277:p.Ser291Phe		B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	pfam_Cyclin_PHO80-like,superfamily_Cyclin-like	p.S291F	ENST00000409789.1	37	c.872	CCDS2433.1	2	.	.	.	.	.	.	.	.	.	.	G	3.414	-0.119544	0.06838	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038	T;T;T	0.32988	2.39;2.39;1.43	4.66	1.6	0.23607	.	1.036580	0.07584	N	0.920745	T	0.17746	0.0426	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29610	-1.0006	10	0.51188	T	0.08	-17.6549	1.8053	0.03079	0.181:0.2161:0.4501:0.1527	.	291	Q9BV87	CNPD1_HUMAN	F	291	ENSP00000353698:S291F;ENSP00000386277:S291F;ENSP00000410109:S291F	ENSP00000353698:S291F	S	-	2	0	CNPPD1	219745913	0.753000	0.28349	0.001000	0.08648	0.032000	0.12392	0.861000	0.27885	0.442000	0.26555	-0.140000	0.14226	TCT	CNPPD1	-	NULL	ENSG00000115649		0.632	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNPPD1	HGNC	protein_coding	OTTHUMT00000336220.1	-	0	33	0	G	NM_015680		220037669	-1	tier1	-	no_errors	ENST00000360507	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.000	A	A	220037669	G	A	220037669	3	1	106	1	0	0	0	0	1	0	0	0	2166	942	33	3	364	3	C2orf24	2	220037669	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	509986	220037669	23161704	32	29256											
EPHA4	2043	genome.wustl.edu	37	chr2	222433469	222433469	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagggcttgctatccacccaAgttctccctgaacagatctg	9	10	9	13	0	2	2	0	1	2	1	4	3	3	2	3	1	2	3	3	1	3	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:222433469A>T	ENST00000281821.2	-	2	169	c.128T>A	c.(127-129)cTt>cAt	p.L43H	EPHA4_ENST00000392071.4_Intron|EPHA4_ENST00000409854.1_Missense_Mutation_p.L43H|EPHA4_ENST00000409938.1_Missense_Mutation_p.L43H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	43	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TATCCACCCAAGTTCTCCCTG	0.403																																																	0													62	59	60					2																	222433469		2203	4300	6503	SO:0001583	missense	0			L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3388	protein-coding gene	gene with protein product		602188	"EphA4"	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.128T>A	2.37:g.222433469A>T	ENSP00000281821:p.Leu43His		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L43H	ENST00000281821.2	37	c.128	CCDS2447.1	2	.	.	.	.	.	.	.	.	.	.	A	19.47	3.834051	0.71373	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000541600;ENST00000434266	T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07	5.61	5.61	0.85477	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54886	-0.8226	10	0.87932	D	0	.	15.7987	0.78433	1.0:0.0:0.0:0.0	.	43	P54764	EPHA4_HUMAN	H	43	ENSP00000281821:L43H;ENSP00000386276:L43H;ENSP00000386829:L43H;ENSP00000444085:L43H;ENSP00000404089:L43H	ENSP00000281821:L43H	L	-	2	0	EPHA4	222141713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.643000	0.91040	2.125000	0.65367	0.455000	0.32223	CTT	EPHA4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000116106		0.403	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA4	HGNC	protein_coding	OTTHUMT00000256836.3	-	0	57	0	A			222433469	-1	tier1	-	no_errors	ENST00000281821	ensembl	human	known	74_37	missense	37.14	44	26	SNP	1.000	T	T	222433469	A	T	222433469	3	4	106	1	0	0	0	0	1	0	0	0	5185	72	3	5	2896	5	EPHA4	2	222433469	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	2395800	222433469	20765904	33	29257											
PTMA	5757	genome.wustl.edu	37	chr2	232573421	232573421	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accggcgtgccccaccatgtCagacgcagccgtagacacca	10	4	10	17	4	1	2	1	0	0	2	1	2	1	2	6	1	2	2	6	1	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:232573421C>G	ENST00000341369.7	+	1	196	c.5C>G	c.(4-6)tCa>tGa	p.S2*	PTMA_ENST00000409321.1_Intron|PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409683.1_Nonsense_Mutation_p.S2*|PTMA_ENST00000409115.3_Nonsense_Mutation_p.S2*|MGC4771_ENST00000595658.1_5'Flank|PTMA_ENST00000410064.1_5'Flank	NM_001099285.1	NP_001092755.1	P06454	PTMA_HUMAN	prothymosin, alpha	2					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CCCACCATGTCAGACGCAGCC	0.667																																																	0													18	20	19					2																	232573421		1618	3624	5242	SO:0001587	stop_gained	0				CCDS42833.1, CCDS46541.1	2q37.1	2008-07-04	2008-04-03		ENSG00000187514	ENSG00000187514			9623	protein-coding gene	gene with protein product	"gene sequence 28"	188390	"prothymosin, alpha (gene sequence 28)"	TMSA		1612591	Standard	NM_002823		Approved		uc002vsc.4	P06454	OTTHUMG00000153810	ENST00000341369.7:c.5C>G	2.37:g.232573421C>G	ENSP00000344547:p.Ser2*		Q15249|Q15592	Nonsense_Mutation	SNP	pfam_Pro/parathymosin	p.S2*	ENST00000341369.7	37	c.5	CCDS42833.1	2	.	.	.	.	.	.	.	.	.	.	C	38	7.041708	0.98021	.	.	ENSG00000187514	ENST00000409115;ENST00000341369;ENST00000409683	.	.	.	3.36	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0321	0.58847	0.0:1.0:0.0:0.0	.	.	.	.	X	2	.	ENSP00000344547:S2X	S	+	2	0	PTMA	232281665	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.067000	0.71193	1.853000	0.53794	0.561000	0.74099	TCA	PTMA	-	pfam_Pro/parathymosin	ENSG00000187514		0.667	PTMA-002	KNOWN	basic|CCDS	protein_coding	PTMA	HGNC	protein_coding	OTTHUMT00000332553.1	-	0	24	0	C			232573421	1	tier1	-	no_errors	ENST00000341369	ensembl	human	known	74_37	nonsense	26.09	17	6	SNP	1.000	G	G	232573421	C	G	232573421	4	3	106	1	0	0	0	0	0	1	0	0	12809	838	29	5	7	5	PTMA	2	232573421	Nonsense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	10139952	232573421	10625952	34	29258											
NEU4	129807	genome.wustl.edu	37	chr2	242756095	242756095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctgggcagtggggtGccctgcacgtgctggggaca	4	8	16	13	1	1	0	0	0	1	0	2	1	2	1	3	5	3	3	3	5	0	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr2:242756095G>T	ENST00000391969.2	+	4	919	c.208G>T	c.(208-210)Gcc>Tcc	p.A70S	NEU4_ENST00000404257.1_Missense_Mutation_p.A82S|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000407683.1_Missense_Mutation_p.A70S|NEU4_ENST00000325935.6_Missense_Mutation_p.A83S|NEU4_ENST00000405370.1_Missense_Mutation_p.A70S	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	70					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCAGTGGGGTGCCCTGCACGT	0.672																																																	0													38	40	39					2																	242756095		2203	4299	6502	SO:0001583	missense	0			BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.208G>T	2.37:g.242756095G>T	ENSP00000375830:p.Ala70Ser		A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	superfamily_Sialidases	p.A83S	ENST00000391969.2	37	c.247	CCDS54442.1	2	.	.	.	.	.	.	.	.	.	.	G	0.075	-1.193687	0.01594	.	.	ENSG00000204099	ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000435894;ENST00000420288;ENST00000428592	D;D;D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	4.24	-1.73	0.08081	Neuraminidase (2);	0.302919	0.33290	U	0.005077	T	0.73009	0.3532	L	0.37750	1.13	0.09310	N	1	B;B;B	0.22146	0.065;0.053;0.027	B;B;B	0.25759	0.055;0.032;0.063	T	0.56786	-0.7921	10	0.21540	T	0.41	-0.8956	7.6809	0.28513	0.1509:0.3715:0.4776:0.0	.	82;82;70	A8K211;Q8WWR8-2;Q8WWR8	.;.;NEUR4_HUMAN	S	70;70;80;70;82;70;83;70;70;111	ENSP00000385402:A70S;ENSP00000384804:A70S;ENSP00000397860:A70S;ENSP00000385149:A82S;ENSP00000375830:A70S;ENSP00000320318:A83S;ENSP00000398571:A70S;ENSP00000388707:A70S;ENSP00000396197:A111S	ENSP00000320318:A83S	A	+	1	0	NEU4	242404768	0.797000	0.28877	0.000000	0.03702	0.084000	0.17831	1.370000	0.34238	-0.890000	0.03945	0.462000	0.41574	GCC	NEU4	-	superfamily_Sialidases	ENSG00000204099		0.672	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NEU4	HGNC	protein_coding	OTTHUMT00000257270.2	-	0	75	0	G	NM_080741		242756095	1	tier1	-	no_errors	ENST00000325935	ensembl	human	known	74_37	missense	43.82	50	39	SNP	0.029	T	T	242756095	G	T	242756095	3	4	106	1	0	0	0	0	1	0	0	0	10383	1319	46	3	257	3	NEU4	2	242756095	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	10182674	242756095	443278	35	29259											
ARL6IP5	10550	genome.wustl.edu	37	chr3	69153771	69153771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagactcactgactatatcaGcaaagtgaaggaataaacat	18	8	7	8	0	2	3	2	2	0	1	2	4	2	4	0	1	2	1	0	1	7	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr3:69153771G>A	ENST00000273258.3	+	3	655	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation factor-like 6 interacting protein 5	184	Targeting to endoplasmic reticulum membrane. {ECO:0000250}.				intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|L-glutamate transport (GO:0015813)|negative regulation of mitochondrial membrane potential (GO:0010917)|negative regulation of transport (GO:0051051)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of stress-activated MAPK cascade (GO:0032874)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		GACTATATCAGCAAAGTGAAG	0.453																																																	0													85	78	80					3																	69153771		2203	4300	6503	SO:0001583	missense	0			AF070523	CCDS2912.1	3p14	2014-05-12	2014-05-12		ENSG00000144746	ENSG00000144746			16937	protein-coding gene	gene with protein product	"PRA1 domain family 3"	605709				11242046, 11042152	Standard	NM_006407		Approved	PRAF3, JWA, GTRAP3-18, DERP11, HSPC127	uc003dnr.3	O75915	OTTHUMG00000158773	ENST00000273258.3:c.551G>A	3.37:g.69153771G>A	ENSP00000273258:p.Ser184Asn		B2R6V5|Q53ES3|Q5KU08	Missense_Mutation	SNP	pfam_Prenylated_rab_accept_PRA1	p.S184N	ENST00000273258.3	37	c.551	CCDS2912.1	3	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267379	0.40095	.	.	ENSG00000144746	ENST00000273258	T	0.48836	0.8	5.69	3.91	0.45181	.	0.156175	0.64402	N	0.000002	T	0.42040	0.1185	L	0.59436	1.845	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.29579	-1.0007	10	0.49607	T	0.09	-14.8222	8.7266	0.34474	0.1456:0.1571:0.6972:0.0	.	184	O75915	PRAF3_HUMAN	N	184	ENSP00000273258:S184N	ENSP00000273258:S184N	S	+	2	0	ARL6IP5	69236461	1.000000	0.71417	0.998000	0.56505	0.692000	0.40212	2.134000	0.42102	0.773000	0.33404	-0.137000	0.14449	AGC	ARL6IP5	-	NULL	ENSG00000144746		0.453	ARL6IP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP5	HGNC	protein_coding	OTTHUMT00000352132.1		0	23	0	G	NM_006407		69153771	1			no_errors	ENST00000273258	ensembl	human	known	74_37	missense	7.41	25	2	SNP	1.000	A	A	69153771	G	A	69153771	3	1	106	1	0	0	0	0	1	0	0	0	945	971	34	3	561	3	ARL6IP5	3	69153771	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		69153771	128868659	36	29260											
PROS1	5627	genome.wustl.edu	37	chr3	93624933	93624933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagcttttccatctttgCagctcatatatccatcttca	11	15	4	11	0	4	1	2	0	2	1	6	1	6	1	2	0	3	3	2	0	4	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr3:93624933C>T	ENST00000394236.3	-	5	717	c.401G>A	c.(400-402)tGc>tAc	p.C134Y	PROS1_ENST00000407433.1_Missense_Mutation_p.C3Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	134	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCCATCTTTGCAGCTCATATA	0.413																																																	0													114	120	118					3																	93624933		2203	4300	6503	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.401G>A	3.37:g.93624933C>T	ENSP00000377783:p.Cys134Tyr		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.C134Y	ENST00000394236.3	37	c.401	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067095	0.76301	.	.	ENSG00000184500	ENST00000394236;ENST00000407433;ENST00000348974;ENST00000472684	D;D;D;D	0.99992	-12.4;-3.19;-12.4;-3.25	4.44	4.44	0.53790	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.115168	0.64402	D	0.000006	D	0.99994	0.9999	H	0.95816	3.725	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.99986	1.3252	10	0.87932	D	0	.	17.2572	0.87060	0.0:1.0:0.0:0.0	.	134	P07225	PROS_HUMAN	Y	134;3;166;3	ENSP00000377783:C134Y;ENSP00000385794:C3Y;ENSP00000330021:C166Y;ENSP00000419616:C3Y	ENSP00000330021:C166Y	C	-	2	0	PROS1	95107623	1.000000	0.71417	0.966000	0.40874	0.940000	0.58332	5.659000	0.68010	2.314000	0.78098	0.484000	0.47621	TGC	PROS1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184500		0.413	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0	32	0	C	NM_000313		93624933	-1	tier1	-	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T	T	93624933	C	T	93624933	3	4	106	1	0	0	0	0	1	0	0	0	12600	710	25	3	1673	3	PROS1	3	93624933	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	24471162	93624933	104397497	37	29261											
ARL13B	200894	genome.wustl.edu	37	chr3	93758767	93758767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactcgatggaaccagtGgtctggctgagttggaccca	9	9	13	10	1	1	2	0	2	1	0	2	5	1	4	2	4	2	2	2	4	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr3:93758767G>T	ENST00000394222.3	+	6	1008	c.733G>T	c.(733-735)Ggt>Tgt	p.G245C	ARL13B_ENST00000471138.1_Missense_Mutation_p.G245C|ARL13B_ENST00000535334.1_Missense_Mutation_p.G142C|ARL13B_ENST00000303097.7_Missense_Mutation_p.G138C|ARL13B_ENST00000539730.1_5'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	245					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TGGAACCAGTGGTCTGGCTGA	0.388																																																	0													79	74	76					3																	93758767		2203	4300	6503	SO:0001583	missense	0			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	25419	protein-coding gene	gene with protein product		608922	"ADP-ribosylation factor-like 2-like 1"	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.733G>T	3.37:g.93758767G>T	ENSP00000377769:p.Gly245Cys		D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.G245C	ENST00000394222.3	37	c.733	CCDS2925.1	3	.	.	.	.	.	.	.	.	.	.	G	6.391	0.440174	0.12104	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138	T;T;T;T	0.64085	1.73;-0.08;0.13;0.13	5.57	2.19	0.27852	.	1.000730	0.08061	N	0.998120	T	0.56001	0.1956	L	0.40543	1.245	0.09310	N	0.999998	P;B;P;B	0.39181	0.663;0.151;0.474;0.24	B;B;B;B	0.39904	0.296;0.198;0.313;0.155	T	0.46721	-0.9171	10	0.56958	D	0.05	-2.9697	10.4049	0.44252	0.3378:0.0:0.6622:0.0	.	142;245;138;245	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	C	142;138;245;245	ENSP00000445145:G142C;ENSP00000306225:G138C;ENSP00000377769:G245C;ENSP00000420780:G245C	ENSP00000306225:G138C	G	+	1	0	ARL13B	95241457	0.000000	0.05858	0.041000	0.18516	0.002000	0.02628	0.826000	0.27407	0.369000	0.24510	-0.797000	0.03246	GGT	ARL13B	-	NULL	ENSG00000169379		0.388	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	-	0	50	0	G	NM_182896		93758767	1	tier1	-	no_errors	ENST00000394222	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.000	T	T	93758767	G	T	93758767	3	4	106	1	0	0	0	0	1	0	0	0	929	1348	47	3	755	3	ARL13B	3	93758767	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	133834	93758767	104263663	38	29262											
POLQ	10721	genome.wustl.edu	37	chr3	121260276	121260276	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccgcatttccaaaacccGcttcaaaataagtaattctg	13	12	4	12	2	2	0	1	0	1	0	4	0	4	0	3	0	1	3	3	0	6	6	rs201454367		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr3:121260276G>T	ENST00000264233.5	-	3	522	c.394C>A	c.(394-396)Cgg>Agg	p.R132R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	132	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCAAAACCCGCTTCAAAATA	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													147	164	158					3																	121260276		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"DNA polymerases"	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.394C>A	3.37:g.121260276G>T			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.R132	ENST00000264233.5	37	c.394	CCDS33833.1	3																																																																																			POLQ	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000051341		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0	23	0	G	NM_199420		121260276	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T	T	121260276	G	T	121260276	2	4	106	1	0	0	0	0	0	0	0	1	12247	1086	38	2		2	POLQ	3	121260276	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	27501509	121260276	76762154	39	29263											
IQCB1	9657	genome.wustl.edu	37	chr3	121547357	121547357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaattgtagtccaaccacCctggattcgagaataatctt	13	11	8	9	1	1	1	0	0	1	1	3	4	2	3	3	2	1	1	3	2	5	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr3:121547357C>T	ENST00000310864.6	-	4	437	c.223G>A	c.(223-225)Ggt>Agt	p.G75S	IQCB1_ENST00000349820.6_Missense_Mutation_p.G75S	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	75					cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GTCCAACCACCCTGGATTCGA	0.363																																																	0													94	91	92					3																	121547357		2203	4300	6503	SO:0001583	missense	0			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"nephrocystin-5"	609237	"IQ calmodulin-binding motif containing 1"			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.223G>A	3.37:g.121547357C>T	ENSP00000311505:p.Gly75Ser		Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.G75S	ENST00000310864.6	37	c.223	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	C	26.0	4.690320	0.88735	.	.	ENSG00000173226	ENST00000310864;ENST00000349820;ENST00000462442	T;T;T	0.10668	2.85;2.85;2.85	5.35	5.35	0.76521	.	0.047687	0.85682	D	0.000000	T	0.23014	0.0556	L	0.34521	1.04	0.29564	N	0.850443	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.01015	-1.1480	10	0.87932	D	0	-11.8491	14.4364	0.67284	0.0:1.0:0.0:0.0	.	75;75	Q15051;Q15051-2	IQCB1_HUMAN;.	S	75	ENSP00000311505:G75S;ENSP00000323756:G75S;ENSP00000419376:G75S	ENSP00000311505:G75S	G	-	1	0	IQCB1	123030047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.637000	0.61346	2.789000	0.95967	0.655000	0.94253	GGT	IQCB1	-	NULL	ENSG00000173226		0.363	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	-	0	71	0	C	NM_014642		121547357	-1	tier1	-	no_errors	ENST00000310864	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T	T	121547357	C	T	121547357	3	4	106	1	0	0	0	0	1	0	0	0	7830	623	22	3	1621	3	IQCB1	3	121547357	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	287081	121547357	76475073	40	29264											
PARP14	54625	genome.wustl.edu	37	chr3	122447375	122447375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagataatgtgcaccaTccaagtttatttgtggcatt	11	14	8	8	0	1	1	1	0	0	1	2	1	2	1	2	1	1	3	2	1	3	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr3:122447375T>C	ENST00000474629.2	+	17	5603	c.5337T>C	c.(5335-5337)caT>caC	p.H1779H		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1779	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATGTGCACCATCCAAGTTTAT	0.363																																																	0													168	163	165					3																	122447375		1910	4133	6043	SO:0001819	synonymous_variant	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5337T>C	3.37:g.122447375T>C			B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.H1779	ENST00000474629.2	37	c.5337	CCDS46894.1	3																																																																																			PARP14	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000173193		0.363	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	-	0	75	0	T	NM_017554		122447375	1	tier1	-	no_errors	ENST00000474629	ensembl	human	known	74_37	silent	45.71	37	32	SNP	0.008	C	C	122447375	T	C	122447375	2	2	106	1	0	0	0	0	0	0	0	1	11497	1432	50	4		4	PARP14	3	122447375	Silent	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	900018	122447375	75575055	41	29265											
GPR149	344758	genome.wustl.edu	37	chr3	154146875	154146875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcagccccagggcgtgCgcacgaaggcgccccagccg	7	1	15	18	5	0	0	0	0	0	0	0	1	0	0	6	3	3	2	6	3	1	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr3:154146875C>G	ENST00000389740.2	-	1	629	c.530G>C	c.(529-531)cGc>cCc	p.R177P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	177					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCAGGGCGTGCGCACGAAGGC	0.662																																																	0													24	30	28					3																	154146875		2051	4182	6233	SO:0001583	missense	0			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"GPCR / Class A : Orphans"	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.530G>C	3.37:g.154146875C>G	ENSP00000374390:p.Arg177Pro			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.R177P	ENST00000389740.2	37	c.530	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578475	0.28180	.	.	ENSG00000174948	ENST00000389740	T	0.38401	1.14	5.41	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.165435	0.53938	D	0.000057	T	0.20414	0.0491	N	0.12502	0.225	0.38063	D	0.936136	B	0.19583	0.037	B	0.24006	0.05	T	0.07616	-1.0763	10	0.07990	T	0.79	-19.8482	14.5679	0.68191	0.0:0.7531:0.2469:0.0	.	177	Q86SP6	GP149_HUMAN	P	177	ENSP00000374390:R177P	ENSP00000374390:R177P	R	-	2	0	GPR149	155629569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.916000	0.39986	2.541000	0.85698	0.655000	0.94253	CGC	GPR149	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000174948		0.662	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	HGNC	protein_coding	OTTHUMT00000353430.1	-	0	73	0	C	XM_293580		154146875	-1	tier1	-	no_errors	ENST00000389740	ensembl	human	known	74_37	missense	43.01	53	40	SNP	1.000	G	G	154146875	C	G	154146875	3	3	106	1	0	0	0	0	1	0	0	0	6680	768	27	5	1681	5	GPR149	3	154146875	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	31699500	154146875	43875555	42	29266											
TADA2B	93624	genome.wustl.edu	37	chr4	7056084	7056084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgctcatcagcgggctctCtgtcaactatgatgacgacg	9	9	11	12	4	4	2	3	2	1	0	5	4	4	2	0	1	2	2	0	1	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr4:7056084C>G	ENST00000310074.7	+	2	755	c.566C>G	c.(565-567)tCt>tGt	p.S189C	TADA2B_ENST00000512388.1_Missense_Mutation_p.S114C|TADA2B_ENST00000515646.1_Missense_Mutation_p.S97C	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	189					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AGCGGGCTCTCTGTCAACTAT	0.577																																																	0													48	51	50					4																	7056084		2026	4199	6225	SO:0001583	missense	0			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.566C>G	4.37:g.7056084C>G	ENSP00000308022:p.Ser189Cys		A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.S189C	ENST00000310074.7	37	c.566	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864760	0.32977	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T;T	0.47528	0.84;0.86;0.86;0.86;0.86	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	L	0.54323	1.7	0.80722	D	1	P;B	0.38167	0.621;0.068	B;B	0.30251	0.113;0.031	T	0.51076	-0.8751	10	0.59425	D	0.04	-18.2	18.9307	0.92564	0.0:1.0:0.0:0.0	.	114;189	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	C	97;189;114;97;97	ENSP00000422398:S97C;ENSP00000308022:S189C;ENSP00000423947:S114C;ENSP00000423181:S97C;ENSP00000425731:S97C	ENSP00000308022:S189C	S	+	2	0	TADA2B	7106985	1.000000	0.71417	1.000000	0.80357	0.141000	0.21300	5.690000	0.68241	2.481000	0.83766	0.561000	0.74099	TCT	TADA2B	-	pirsf_Transcriptional_adaptor_2	ENSG00000173011		0.577	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	-	0	17	0	C	NM_152293		7056084	1	tier1	-	no_errors	ENST00000310074	ensembl	human	known	74_37	missense	72.73	3	8	SNP	1.000	G	G	7056084	C	G	7056084	3	3	106	1	0	0	0	0	1	0	0	0	15558	913	32	5	572	5	TADA2B	4	7056084	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		7056084	184098192	43	29267											
ENAM	10117	genome.wustl.edu	37	chr4	71508640	71508640	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctattacccaagaggAgattccagaaaagtcccaaa	17	7	6	11	0	0	3	0	0	0	3	3	4	3	3	4	1	2	0	4	1	7	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr4:71508640A>T	ENST00000396073.3	+	9	1778	c.1497A>T	c.(1495-1497)ggA>ggT	p.G499G	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	499					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCCAAGAGGAGATTCCAGAA	0.373																																																	0													41	42	42					4																	71508640		2203	4300	6503	SO:0001819	synonymous_variant	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1497A>T	4.37:g.71508640A>T			Q17RI5|Q9H3D1	Silent	SNP	NULL	p.G499	ENST00000396073.3	37	c.1497	CCDS3544.2	4																																																																																			ENAM	-	NULL	ENSG00000132464		0.373	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	-	0	14	0	A	NM_031889		71508640	1	tier1	-	no_errors	ENST00000396073	ensembl	human	known	74_37	silent	53.85	6	7	SNP	0.998	T	T	71508640	A	T	71508640	2	4	106	1	0	0	0	0	0	0	0	1	5128	291	11	5		5	ENAM	4	71508640	Silent	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	64452556	71508640	119645636	44	29268											
SEC31A	22872	genome.wustl.edu	37	chr4	83776067	83776067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcttaccacaaagggctGaaaattcatccggctttgca	12	11	7	11	1	2	1	1	1	1	0	4	1	3	1	2	2	2	3	2	2	4	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr4:83776067G>A	ENST00000395310.2	-	17	2179	c.1997C>T	c.(1996-1998)tCa>tTa	p.S666L	SEC31A_ENST00000355196.2_Missense_Mutation_p.S666L|SEC31A_ENST00000505472.1_Missense_Mutation_p.S666L|SEC31A_ENST00000311785.7_Missense_Mutation_p.S666L|SEC31A_ENST00000432794.1_Missense_Mutation_p.S666L|SEC31A_ENST00000500777.2_Missense_Mutation_p.S627L|SEC31A_ENST00000508479.1_Missense_Mutation_p.S666L|SEC31A_ENST00000513858.1_Missense_Mutation_p.S627L|SEC31A_ENST00000264405.5_Missense_Mutation_p.S399L|SEC31A_ENST00000508502.1_Missense_Mutation_p.S666L|SEC31A_ENST00000448323.1_Missense_Mutation_p.S666L|SEC31A_ENST00000509142.1_Missense_Mutation_p.S666L|SEC31A_ENST00000505984.1_Missense_Mutation_p.S627L|SEC31A_ENST00000443462.2_Missense_Mutation_p.S661L|SEC31A_ENST00000348405.4_Missense_Mutation_p.S627L|SEC31A_ENST00000326950.5_Missense_Mutation_p.S627L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	666					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAAAGGGCTGAAAATTCATC	0.343																																																	0													82	79	80					4																	83776067		2203	4300	6503	SO:0001583	missense	0			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"WD repeat domain containing"	17052	protein-coding gene	gene with protein product		610257	"SEC31-like 1 (S. cerevisiae)", "Sec31 homolog A (S. cerevisiae)"	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1997C>T	4.37:g.83776067G>A	ENSP00000378721:p.Ser666Leu		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S666L	ENST00000395310.2	37	c.1997	CCDS3596.1	4	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657786	0.67586	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.22;1.09;2.28;2.27;1.15;2.17;2.28;1.22;1.15;1.03;1.09;2.27;2.28;3.07;2.2;2.17;2.15	5.51	5.51	0.81932	.	0.251415	0.41396	D	0.000890	T	0.58278	0.2111	M	0.74647	2.275	0.80722	D	1	B;B;B;B;B;P;B;B;P	0.42010	0.17;0.053;0.304;0.38;0.12;0.721;0.348;0.146;0.768	P;B;B;B;B;P;B;B;P	0.49012	0.472;0.056;0.414;0.373;0.06;0.476;0.189;0.201;0.598	T	0.60835	-0.7184	10	0.59425	D	0.04	-2.2843	19.4176	0.94708	0.0:0.0:1.0:0.0	.	661;627;666;627;627;666;666;666;399	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;SC31A_HUMAN;.	L	627;627;666;661;666;666;666;627;666;666;627;666;666;399;627;666;254	ENSP00000337602:S627L;ENSP00000426886:S627L;ENSP00000378721:S666L;ENSP00000408027:S661L;ENSP00000426569:S666L;ENSP00000407944:S666L;ENSP00000400926:S666L;ENSP00000325087:S627L;ENSP00000309070:S666L;ENSP00000421633:S666L;ENSP00000421464:S627L;ENSP00000424635:S666L;ENSP00000347329:S666L;ENSP00000264405:S399L;ENSP00000424451:S627L;ENSP00000425999:S666L;ENSP00000422267:S254L	ENSP00000264405:S399L	S	-	2	0	SEC31A	83995091	1.000000	0.71417	0.284000	0.24805	0.137000	0.21094	9.869000	0.99810	2.596000	0.87737	0.650000	0.86243	TCA	SEC31A	-	NULL	ENSG00000138674		0.343	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	-	0	58	0	G	NM_016211		83776067	-1	tier1	-	no_errors	ENST00000432794	ensembl	human	known	74_37	missense	67.39	15	31	SNP	0.985	A	A	83776067	G	A	83776067	3	1	106	1	0	0	0	0	1	0	0	0	14043	1294	45	3	1709	3	SEC31A	4	83776067	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	12267427	83776067	107378209	45	29269											
PKD2	5311	genome.wustl.edu	37	chr4	88977399	88977399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcactcaggtcgatgacttCagtactttccaagagtgtat	10	12	10	9	1	2	2	2	1	0	1	4	3	3	2	1	2	1	3	1	2	3	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr4:88977399C>T	ENST00000508588.1	+	3	527	c.132C>T	c.(130-132)ttC>ttT	p.F44F	PKD2_ENST00000237596.2_Silent_p.F626F|PKD2_ENST00000502363.1_Silent_p.F44F|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCGATGACTTCAGTACTTTCC	0.363																																																	0													86	68	74					4																	88977399		2203	4300	6503	SO:0001819	synonymous_variant	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.132C>T	4.37:g.88977399C>T			Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.F626	ENST00000508588.1	37	c.1878		4																																																																																			PKD2	-	pfam_PKD1_2_channel,pfam_Ion_trans_dom	ENSG00000118762		0.363	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000363253.2	-	0	23	0	C	NM_000297		88977399	1	tier1	-	no_errors	ENST00000237596	ensembl	human	known	74_37	silent	39.13	14	9	SNP	1.000	T	T	88977399	C	T	88977399	2	4	106	1	0	0	0	0	0	0	0	1	12005	825	29	3		3	PKD2	4	88977399	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	5201332	88977399	102176877	46	29270											
SEMA5A	9037	genome.wustl.edu	37	chr5	9043022	9043022	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagctgttagtactcatcaTaattattgagatctgtaaag	15	14	7	5	0	3	1	2	1	1	1	3	2	3	1	0	0	2	4	0	0	7	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:9043022T>A	ENST00000382496.5	-	23	3877	c.3212A>T	c.(3211-3213)tAt>tTt	p.Y1071F	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1071					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTACTCATCATAATTATTGAG	0.408																																																	0													181	172	175					5																	9043022		2203	4300	6503	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"Semaphorins"	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3212A>T	5.37:g.9043022T>A	ENSP00000371936:p.Tyr1071Phe		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt	p.Y1071F	ENST00000382496.5	37	c.3212	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207978	0.79240	.	.	ENSG00000112902	ENST00000382496	T	0.37235	1.21	5.45	5.45	0.79879	.	0.062754	0.64402	D	0.000003	T	0.29817	0.0745	N	0.14661	0.345	0.47183	D	0.999342	D	0.54397	0.966	P	0.48425	0.577	T	0.14309	-1.0477	10	0.87932	D	0	.	12.206	0.54353	0.0:0.0:0.0:1.0	.	1071	Q13591	SEM5A_HUMAN	F	1071	ENSP00000371936:Y1071F	ENSP00000371936:Y1071F	Y	-	2	0	SEMA5A	9096022	1.000000	0.71417	0.996000	0.52242	0.614000	0.37383	7.155000	0.77445	2.194000	0.70268	0.533000	0.62120	TAT	SEMA5A	-	NULL	ENSG00000112902		0.408	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	-	0	69	0	T			9043022	-1	tier1	-	no_errors	ENST00000382496	ensembl	human	known	74_37	missense	42.35	98	72	SNP	1.000	A	A	9043022	T	A	9043022	3	1	106	1	0	0	0	0	1	0	0	0	14082	1406	49	5	16	5	SEMA5A	5	9043022	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09		9043022	171872238	47	29271											
IL6ST	3572	genome.wustl.edu	37	chr5	55260105	55260105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaggtgggggtgtcaCgttttgctttgcaatcagca	7	13	14	7	1	2	1	2	1	0	0	2	1	2	1	0	3	4	5	0	3	1	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:55260105C>T	ENST00000381298.2	-	6	839	c.527G>A	c.(526-528)cGt>cAt	p.R176H	IL6ST_ENST00000381294.3_Missense_Mutation_p.R176H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.R176H|IL6ST_ENST00000522633.2_Missense_Mutation_p.R176H|IL6ST_ENST00000336909.5_Missense_Mutation_p.R176H|IL6ST_ENST00000502326.3_Missense_Mutation_p.R176H|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000396816.1_Missense_Mutation_p.V34M|IL6ST_ENST00000381287.4_Missense_Mutation_p.R176H|IL6ST_ENST00000577363.1_5'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	176	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.R176H(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GGGGGTGTCACGTTTTGCTTT	0.368			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"		E	1	Substitution - Missense(1)	prostate(1)											94	85	88					5																	55260105		2203	4300	6503	SO:0001583	missense	0			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	6021	protein-coding gene	gene with protein product	"gp130, oncostatin M receptor"	600694	"interleukin 6 signal transducer (gp130, oncostatin M receptor)"			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.527G>A	5.37:g.55260105C>T	ENSP00000370698:p.Arg176His		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R176H	ENST00000381298.2	37	c.527	CCDS3971.1	5	.	.	.	.	.	.	.	.	.	.	C	8.928	0.962784	0.18583	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294;ENST00000381287;ENST00000536319;ENST00000522633;ENST00000542298	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	6.17	-2.02	0.07388	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.276180	0.04642	N	0.405558	T	0.65365	0.2684	N	0.12471	0.22	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.08055	0.002;0.001;0.003	T	0.50808	-0.8784	10	0.12766	T	0.61	.	6.9012	0.24283	0.0:0.2953:0.3185:0.3863	.	176;176;176	Q5FC04;P40189-2;P40189	.;.;IL6RB_HUMAN	H	176	ENSP00000370698:R176H;ENSP00000338799:R176H;ENSP00000370694:R176H;ENSP00000370687:R176H;ENSP00000444456:R176H;ENSP00000435399:R176H	ENSP00000338799:R176H	R	-	2	0	IL6ST	55295862	0.003000	0.15002	0.723000	0.30687	0.615000	0.37417	-0.709000	0.05030	-0.271000	0.09272	0.655000	0.94253	CGT	IL6ST	-	pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000134352		0.368	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	IL6ST	HGNC	protein_coding	OTTHUMT00000214146.3		0	36	0	C	NM_002184		55260105	-1			no_errors	ENST00000336909	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.193	T	T	55260105	C	T	55260105	3	4	106	1	0	0	0	0	1	0	0	0	7730	536	19	1	2277	1	IL6ST	5	55260105	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	46217083	55260105	125655155	48	29272											
GPBP1	65056	genome.wustl.edu	37	chr5	56545287	56545287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaacttaatcagcagcctCgtctaaccaaactgacacga	16	7	5	13	2	2	1	1	1	1	0	3	2	2	1	2	0	5	1	2	0	4	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:56545287C>T	ENST00000506184.2	+	9	1961	c.856C>T	c.(856-858)Cgt>Tgt	p.R286C	GPBP1_ENST00000454432.2_Missense_Mutation_p.R306C|GPBP1_ENST00000511209.1_Missense_Mutation_p.R278C|GPBP1_ENST00000514387.2_Missense_Mutation_p.R115C|GPBP1_ENST00000264779.6_Missense_Mutation_p.R293C|GPBP1_ENST00000424459.3_Missense_Mutation_p.R306C|GPBP1_ENST00000538707.1_Missense_Mutation_p.R293C			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	286					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TCAGCAGCCTCGTCTAACCAA	0.383																																																	0													107	101	103					5																	56545287		2203	4299	6502	SO:0001583	missense	0				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.856C>T	5.37:g.56545287C>T	ENSP00000421202:p.Arg286Cys		A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	NULL	p.R306C	ENST00000506184.2	37	c.916	CCDS34162.1	5	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410892	0.83340	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.55588	1.51;0.51;1.55;1.51;1.61;1.52;1.52	6.16	4.38	0.52667	.	0.104471	0.64402	D	0.000005	T	0.65123	0.2661	M	0.62723	1.935	0.47374	D	0.999402	D;D;D;D	0.76494	0.999;0.998;0.997;0.997	P;P;P;P	0.61592	0.891;0.833;0.653;0.833	T	0.69124	-0.5228	10	0.87932	D	0	-9.0939	12.011	0.53286	0.0:0.8641:0.0:0.1359	.	306;293;278;286	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	C	306;115;286;306;278;293;293	ENSP00000401596:R306C;ENSP00000421709:R115C;ENSP00000421202:R286C;ENSP00000403522:R306C;ENSP00000422337:R278C;ENSP00000264779:R293C;ENSP00000440090:R293C	ENSP00000264779:R293C	R	+	1	0	GPBP1	56581044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.771000	0.55318	1.626000	0.50381	0.650000	0.86243	CGT	GPBP1	-	NULL	ENSG00000062194		0.383	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	HGNC	protein_coding	OTTHUMT00000374496.1	-	0	56	0	C	NM_022913		56545287	1	tier1	-	no_errors	ENST00000424459	ensembl	human	known	74_37	missense	45.83	26	22	SNP	1.000	T	T	56545287	C	T	56545287	3	4	106	1	0	0	0	0	1	0	0	0	6621	884	31	1	907	1	GPBP1	5	56545287	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	1285182	56545287	124369973	49	29273											
HOMER1	9456	genome.wustl.edu	37	chr5	78752821	78752821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaagacatgagctcgaGtgctgaagataggttgttcc	10	12	13	6	1	0	4	0	2	0	2	2	6	1	5	1	2	2	4	1	2	3	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:78752821G>T	ENST00000334082.6	-	2	1468	c.26C>A	c.(25-27)aCt>aAt	p.T9N	HOMER1_ENST00000282260.6_Missense_Mutation_p.T9N|HOMER1_ENST00000508576.1_Missense_Mutation_p.T9N|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	9	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATGAGCTCGAGTGCTGAAGAT	0.433																																																	0													226	211	216					5																	78752821		1904	4123	6027	SO:0001583	missense	0			BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.26C>A	5.37:g.78752821G>T	ENSP00000334382:p.Thr9Asn		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.T9N	ENST00000334082.6	37	c.26	CCDS43335.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250175	0.80024	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98914	-5.23;-5.23;-5.23	5.93	5.93	0.95920	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	0.99;0.982;1.0	D;D;D	0.87578	0.974;0.945;0.998	D	0.99802	1.1036	10	0.87932	D	0	-5.0564	20.3368	0.98748	0.0:0.0:1.0:0.0	.	9;9;9	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	N	9	ENSP00000334382:T9N;ENSP00000426651:T9N;ENSP00000282260:T9N	ENSP00000282260:T9N	T	-	2	0	HOMER1	78788577	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	ACT	HOMER1	-	pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	ENSG00000152413		0.433	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOMER1	HGNC	protein_coding	OTTHUMT00000258856.1		0	79	0	G	NM_004272		78752821	-1			no_errors	ENST00000334082	ensembl	human	known	74_37	missense	5.17	55	3	SNP	1.000	T	T	78752821	G	T	78752821	3	4	106	1	0	0	0	0	1	0	0	0	7305	1029	36	3	1070	3	HOMER1	5	78752821	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	22207534	78752821	102162439	50	29274											
RASA1	5921	genome.wustl.edu	37	chr5	86645150	86645150	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtccaacgccaaacaatCagtttatgatgggaggccgg	12	9	11	9	2	1	1	1	1	0	0	2	2	2	2	3	3	2	1	3	3	5	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:86645150C>T	ENST00000274376.6	+	8	1786	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	RASA1_ENST00000456692.2_Nonsense_Mutation_p.Q231*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q242*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q241*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	408	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCCAAACAATCAGTTTATGAT	0.333																																																	0													68	73	71					5																	86645150		2201	4298	6499	SO:0001587	stop_gained	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	9871	protein-coding gene	gene with protein product	"capillary malformation-arteriovenous malformation"	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1222C>T	5.37:g.86645150C>T	ENSP00000274376:p.Gln408*		B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.Q408*	ENST00000274376.6	37	c.1222	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	44	10.850656	0.99477	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.0172	0.97481	0.0:1.0:0.0:0.0	.	.	.	.	X	408;441;231;241;242	.	ENSP00000274376:Q408X	Q	+	1	0	RASA1	86680906	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.790000	0.85794	2.723000	0.93209	0.585000	0.79938	CAG	RASA1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145715		0.333	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0	41	0	C	NM_002890		86645150	1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	nonsense	53.57	13	15	SNP	1.000	T	T	86645150	C	T	86645150	4	4	106	1	0	0	0	0	0	1	0	0	13105	827	29	3	1264	3	RASA1	5	86645150	Nonsense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	7892329	86645150	94270110	51	29275											
PCDHB2	56133	genome.wustl.edu	37	chr5	140476527	140476527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgcggctgtgcaggaGgagcagggcggcctcggtgg	4	5	23	9	4	0	0	0	0	0	0	1	2	0	2	1	9	3	3	1	9	0	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:140476527G>C	ENST00000194155.4	+	1	2301	c.2153G>C	c.(2152-2154)aGg>aCg	p.R718T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	718					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTGCAGGAGGAGCAGGGCG	0.682																																																	0													23	28	26					5																	140476527		2039	3964	6003	SO:0001583	missense	0			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"Cadherins / Protocadherins : Clustered"	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2153G>C	5.37:g.140476527G>C	ENSP00000194155:p.Arg718Thr		Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R718T	ENST00000194155.4	37	c.2153	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974902	0.34848	.	.	ENSG00000112852	ENST00000194155	T	0.13901	2.55	4.45	4.45	0.53987	.	.	.	.	.	T	0.40743	0.1129	M	0.93763	3.455	0.23704	N	0.997068	D	0.62365	0.991	P	0.60345	0.873	T	0.41466	-0.9507	9	0.56958	D	0.05	.	8.4207	0.32698	0.0887:0.1584:0.7529:0.0	.	718	Q9Y5E7	PCDB2_HUMAN	T	718	ENSP00000194155:R718T	ENSP00000194155:R718T	R	+	2	0	PCDHB2	140456711	0.000000	0.05858	0.257000	0.24404	0.005000	0.04900	-0.030000	0.12308	2.169000	0.68431	0.558000	0.71614	AGG	PCDHB2	-	NULL	ENSG00000112852		0.682	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	-	0	135	0	G	NM_018936		140476527	1	tier1	-	no_errors	ENST00000194155	ensembl	human	known	74_37	missense	50.40	62	63	SNP	0.558	C	C	140476527	G	C	140476527	3	2	106	1	0	0	0	0	1	0	0	0	11581	1000	35	5	2155	5	PCDHB2	5	140476527	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	53831377	140476527	40438733	52	29276											
GABRG2	2566	genome.wustl.edu	37	chr5	161522556	161522556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagcattggtccagtgaaCgctatcaatatggtgagttt	12	13	10	6	1	1	2	1	2	0	0	2	2	2	2	1	2	2	3	1	2	6	5	rs11135176	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:161522556C>A	ENST00000361925.4	+	3	535	c.315C>A	c.(313-315)aaC>aaA	p.N105K	GABRG2_ENST00000414552.2_Missense_Mutation_p.N105K|GABRG2_ENST00000356592.3_Missense_Mutation_p.N105K|GABRG2_ENST00000393933.4_Missense_Mutation_p.N10K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	105					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCCAGTGAACGCTATCAATA	0.368																																																	0													172	163	166					5																	161522556		2203	4299	6502	SO:0001583	missense	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.315C>A	5.37:g.161522556C>A	ENSP00000354651:p.Asn105Lys		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.N105K	ENST00000361925.4	37	c.315	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521493	0.44866	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	6.07	-1.95	0.07548	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	N	0.12961	0.28	0.19945	P	0.9999499211	P;B;B	0.41978	0.767;0.155;0.402	P;B;B	0.47346	0.544;0.239;0.229	T	0.70421	-0.4876	9	0.87932	D	0	.	11.1543	0.48478	0.0:0.3708:0.0:0.6292	.	105;105;105	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	105;105;105;10;10	ENSP00000349000:N105K;ENSP00000410732:N105K;ENSP00000354651:N105K;ENSP00000377510:N10K;ENSP00000430182:N10K	ENSP00000349000:N105K	N	+	3	2	GABRG2	161455134	0.780000	0.28664	0.979000	0.43373	0.815000	0.46073	-0.141000	0.10327	-0.533000	0.06323	-0.956000	0.02647	AAC	GABRG2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000113327		0.368	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	-	0	11	0	C			161522556	1	tier1	-	no_errors	ENST00000356592	ensembl	human	known	74_37	missense	65.85	3	27	SNP	0.994	A	A	161522556	C	A	161522556	3	1	106	1	0	0	0	0	1	0	0	0	6196	535	19	2	325	2	GABRG2	5	161522556	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	21046029	161522556	19392704	53	29277											
ODZ2	57451	genome.wustl.edu	37	chr5	167517587	167517587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttttcccagtatgacttCatggaacgtctggacgggaa	9	12	10	10	2	2	1	1	1	1	0	4	4	4	4	2	3	1	1	2	3	3	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:167517587C>T	ENST00000518659.1	+	8	1563	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TENM2_ENST00000519204.1_Silent_p.F387F|TENM2_ENST00000545108.1_Silent_p.F508F|TENM2_ENST00000520394.1_Silent_p.F276F|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Silent_p.F341F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	508					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTATGACTTCATGGAACGTC	0.522																																																	0													125	124	124					5																	167517587		2026	4177	6203	SO:0001819	synonymous_variant	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1524C>T	5.37:g.167517587C>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F508	ENST00000518659.1	37	c.1524		5																																																																																			TENM2	-	NULL	ENSG00000145934		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	-	0	112	0	C	NM_001122679		167517587	1	tier1	-	no_errors	ENST00000518659	ensembl	human	known	74_37	silent	54.90	46	56	SNP	1.000	T	T	167517587	C	T	167517587	2	4	106	1	0	0	0	0	0	0	0	1	10874	825	29	3		3	ODZ2	5	167517587	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	5995031	167517587	13397673	54	29278											
RARS	5917	genome.wustl.edu	37	chr5	167929026	167929026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttaaataaaatctatgatGcattggacgtctctttaata	15	15	6	5	1	2	1	0	1	2	0	3	2	2	2	0	1	1	2	0	1	7	7			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr5:167929026G>T	ENST00000231572.3	+	9	1027	c.973G>T	c.(973-975)Gca>Tca	p.A325S	RARS_ENST00000538719.1_Missense_Mutation_p.A119S|RARS_ENST00000520421.1_3'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	325					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.A325T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AATCTATGATGCATTGGACGT	0.313																																																	1	Substitution - Missense(1)	endometrium(1)											88	95	93					5																	167929026		2202	4295	6497	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"Aminoacyl tRNA synthetases / Class I"	9870	protein-coding gene	gene with protein product	"arginine tRNA ligase 1, cytoplasmic"	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.973G>T	5.37:g.167929026G>T	ENSP00000231572:p.Ala325Ser		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.A325S	ENST00000231572.3	37	c.973	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	G	13.52	2.260917	0.39995	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.63744	-0.06;-0.06	5.14	5.14	0.70334	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.096119	0.64402	D	0.000001	T	0.52725	0.1752	L	0.29908	0.895	0.32607	N	0.525158	B	0.14438	0.01	B	0.29524	0.103	T	0.61431	-0.7064	10	0.54805	T	0.06	-3.2398	12.2046	0.54345	0.0:0.0:0.7132:0.2868	.	325	P54136	SYRC_HUMAN	S	325;119	ENSP00000231572:A325S;ENSP00000439108:A119S	ENSP00000231572:A325S	A	+	1	0	RARS	167861604	1.000000	0.71417	0.248000	0.24265	0.527000	0.34593	5.050000	0.64251	2.543000	0.85770	0.655000	0.94253	GCA	RARS	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	ENSG00000113643		0.313	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2		0	62	0	G	NM_002887		167929026	1			no_errors	ENST00000231572	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.959	T	T	167929026	G	T	167929026	3	4	106	1	0	0	0	0	1	0	0	0	13103	1319	46	3	1007	3	RARS	5	167929026	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	411439	167929026	12986234	55	29279											
TUBB2A	7280	genome.wustl.edu	37	chr6	3154963	3154963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgatgcggtctgggtactCttcccggatcttgctgatga	6	13	12	10	2	3	3	0	3	3	0	4	4	4	4	1	3	3	2	1	3	1	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:3154963C>G	ENST00000333628.3	-	4	534	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	158					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TCTGGGTACTCTTCCCGGATC	0.622																																																	0													35	24	28					6																	3154963		2202	4276	6478	SO:0001583	missense	0			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"Tubulins"	12412	protein-coding gene	gene with protein product	"class IIa beta-tubulin"	615101	"tubulin, beta polypeptide", "tubulin, beta 2", "tubulin, beta 2A"	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.472G>C	6.37:g.3154963C>G	ENSP00000369703:p.Glu158Gln		Q6FGZ8|Q8IWR2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.E158Q	ENST00000333628.3	37	c.472	CCDS4484.1	6	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437755	0.62955	.	.	ENSG00000137267	ENST00000333628;ENST00000392362	T	0.70986	-0.53	4.88	4.88	0.63580	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.53938	U	0.000043	D	0.85173	0.5636	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.961;0.994;1.0	P;P;D	0.91635	0.874;0.874;0.999	D	0.88155	0.2853	10	0.87932	D	0	.	18.397	0.90502	0.0:1.0:0.0:0.0	.	158;158;158	B2R6L0;Q13885;Q8N6N5	.;TBB2A_HUMAN;.	Q	158;68	ENSP00000369703:E158Q	ENSP00000369703:E158Q	E	-	1	0	TUBB2A	3099962	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.303000	0.78871	2.422000	0.82143	0.557000	0.71058	GAG	TUBB2A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin	ENSG00000137267		0.622	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1	-	0	53	0	C	NM_001069		3154963	-1	tier1	-	no_errors	ENST00000333628	ensembl	human	known	74_37	missense	44.44	30	24	SNP	1.000	G	G	3154963	C	G	3154963	3	3	106	1	0	0	0	0	1	0	0	0	16803	922	32	5	869	5	TUBB2A	6	3154963	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		3154963	167960104	56	29280											
ZKSCAN3	80317	genome.wustl.edu	37	chr6	28331513	28331513	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctgaccctcacccctgaAtggacacagcaggattcatc	10	7	8	16	0	2	2	2	2	0	0	3	4	2	4	4	2	1	1	4	2	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:28331513A>G	ENST00000377255.3	+	6	975	c.678A>G	c.(676-678)gaA>gaG	p.E226E	ZKSCAN3_ENST00000252211.2_Silent_p.E226E|ZKSCAN3_ENST00000341464.5_Silent_p.E78E	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	226	KRAB.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCACCCCTGAATGGACACAGC	0.498																																																	0													89	83	85					6																	28331513		2203	4300	6503	SO:0001819	synonymous_variant	0			U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"Zinc fingers, C2H2-type", "-", "-", "-"	13853	protein-coding gene	gene with protein product		612791	"zinc finger protein 306", "zinc finger protein 309"	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.678A>G	6.37:g.28331513A>G			B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E226	ENST00000377255.3	37	c.678	CCDS4650.1	6																																																																																			ZKSCAN3	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box	ENSG00000189298		0.498	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN3	HGNC	protein_coding	OTTHUMT00000040189.3	-	0	72	0	A	NM_024493		28331513	1	tier1	-	no_errors	ENST00000252211	ensembl	human	known	74_37	silent	34.33	44	23	SNP	0.000	G	G	28331513	A	G	28331513	2	3	106	1	0	0	0	0	0	0	0	1	17736	98	4	4		4	ZKSCAN3	6	28331513	Silent	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	25176550	28331513	142783554	57	29281											
HSPA1B	3304	genome.wustl.edu	37	chr6	31797494	31797494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaccttggccgagaaGgacgagtttgagcacaagag	13	5	13	10	2	0	3	0	1	0	2	0	6	0	4	3	2	2	2	3	2	3	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:31797494G>A	ENST00000375650.3	+	1	1983	c.1767G>A	c.(1765-1767)aaG>aaA	p.K589K	HSPA1B_ENST00000545241.1_Silent_p.K498K	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	589					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						TGGCCGAGAAGGACGAGTTTG	0.602																																																	0													46	37	40					6																	31797494		1670	3421	5091	SO:0001819	synonymous_variant	0				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"Heat shock proteins / HSP70"	5233	protein-coding gene	gene with protein product		603012	"heat shock 70kD protein 1B"			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1767G>A	6.37:g.31797494G>A			B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.K589	ENST00000375650.3	37	c.1767	CCDS34415.1	6																																																																																			HSPA1B	-	pfam_Hsp_70_fam	ENSG00000204388		0.602	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	-	0	54	0	G			31797494	1	tier1	-	no_errors	ENST00000375650	ensembl	human	known	74_37	silent	36.05	55	31	SNP	1.000	A	A	31797494	G	A	31797494	2	1	106	1	0	0	0	0	0	0	0	1	7436	991	35	3		3	HSPA1B	6	31797494	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	3465981	31797494	139317573	58	29282											
SCUBE3	222663	genome.wustl.edu	37	chr6	35211826	35211826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccaacctgaagcaggaCggaccctatgcttcccttgt	9	9	8	15	1	0	1	0	1	0	0	1	3	1	3	5	2	4	2	5	2	4	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:35211826C>T	ENST00000274938.7	+	17	2158	c.2158C>T	c.(2158-2160)Cgg>Tgg	p.R720W	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R736W	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGAAGCAGGACGGACCCTATG	0.557																																																	0													130	106	114					6																	35211826		2203	4300	6503	SO:0001583	missense	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2158C>T	6.37:g.35211826C>T	ENSP00000274938:p.Arg720Trp			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.R736W	ENST00000274938.7	37	c.2206	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050634	0.75960	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.15952	2.38;2.38	5.75	5.75	0.90469	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.60949	-0.7161	10	0.87932	D	0	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	736;720	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	W	736;720	ENSP00000378174:R736W;ENSP00000274938:R720W	ENSP00000274938:R720W	R	+	1	2	SCUBE3	35319804	0.437000	0.25593	1.000000	0.80357	0.995000	0.86356	1.058000	0.30504	2.719000	0.93026	0.655000	0.94253	CGG	SCUBE3	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom	ENSG00000146197		0.557	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	-	0	39	0	C	NM_152753		35211826	1	tier1	-	no_errors	ENST00000394681	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	T	T	35211826	C	T	35211826	3	4	106	1	0	0	0	0	1	0	0	0	13991	527	19	1	2224	1	SCUBE3	6	35211826	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	3414332	35211826	135903241	59	29283											
TREM1	54210	genome.wustl.edu	37	chr6	41250446	41250446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagggtctgcccctctttCagttcatacttttcctcagt	5	16	6	14	0	5	0	3	0	2	0	7	0	7	0	4	1	2	1	4	1	1	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:41250446C>T	ENST00000244709.4	-	2	156	c.93G>A	c.(91-93)ctG>ctA	p.L31L	TREM1_ENST00000334475.6_Silent_p.L31L|TREM1_ENST00000591620.1_Silent_p.L31L|TREM1_ENST00000589614.1_Silent_p.L31L	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	31	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCCCCTCTTTCAGTTCATACT	0.453																																																	0													102	108	106					6																	41250446		2203	4300	6503	SO:0001819	synonymous_variant	0			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.93G>A	6.37:g.41250446C>T			B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub	p.L31	ENST00000244709.4	37	c.93	CCDS4854.1	6																																																																																			TREM1	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000124731		0.453	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM1	HGNC	protein_coding	OTTHUMT00000040505.2	-	0	45	0	C	NM_018643		41250446	-1	tier1	-	no_errors	ENST00000244709	ensembl	human	known	74_37	silent	41.30	27	19	SNP	0.000	T	T	41250446	C	T	41250446	2	4	106	1	0	0	0	0	0	0	0	1	16518	813	29	3		3	TREM1	6	41250446	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	6038620	41250446	129864621	60	29284											
CUL7	9820	genome.wustl.edu	37	chr6	43005697	43005697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaccccttaccaaggCtgctgaccaaacccctggga	11	6	9	15	0	0	2	0	1	0	1	0	3	0	3	6	2	4	3	6	2	3	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:43005697C>T	ENST00000265348.3	-	26	4911	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	CUL7_ENST00000535468.1_Missense_Mutation_p.S1693N|RN7SL403P_ENST00000481783.2_RNA			Q14999	CUL7_HUMAN	cullin 7	1609					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTACCAAGGCTGCTGACCAA	0.637																																																	0													76	68	71					6																	43005697		2203	4300	6503	SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"KIAA0076"	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4826G>A	6.37:g.43005697C>T	ENSP00000265348:p.Ser1609Asn		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S1693N	ENST00000265348.3	37	c.5078	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326264	0.41197	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80033	-1.32;-1.33	5.47	3.67	0.42095	.	0.466479	0.24774	N	0.035711	T	0.55737	0.1939	L	0.34521	1.04	0.33818	D	0.628679	B;B;P;P	0.36282	0.005;0.024;0.546;0.546	B;B;B;B	0.34722	0.008;0.008;0.188;0.123	T	0.60424	-0.7266	10	0.62326	D	0.03	-12.2662	8.6619	0.34097	0.0:0.7366:0.1275:0.1359	.	1693;1609;1693;1609	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	N	1609;1693	ENSP00000265348:S1609N;ENSP00000438788:S1693N	ENSP00000265348:S1609N	S	-	2	0	CUL7	43113675	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.905000	0.39878	1.291000	0.44653	-0.165000	0.13383	AGC	CUL7	-	smart_Cullin_neddylation_domain	ENSG00000044090		0.637	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	-	0	29	0	C	NM_014780		43005697	-1	tier1	-	no_errors	ENST00000535468	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.986	T	T	43005697	C	T	43005697	3	4	106	1	0	0	0	0	1	0	0	0	4069	797	28	3	274	3	CUL7	6	43005697	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	1755251	43005697	128109370	61	29285											
ZNF451	26036	genome.wustl.edu	37	chr6	57018677	57018677	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctggccgtctagatgaaCaactacccaagcaaattcct	13	8	8	12	1	1	2	0	1	1	1	2	2	2	2	3	2	4	2	3	2	6	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:57018677C>T	ENST00000370706.4	+	13	3146	c.2902C>T	c.(2902-2904)Caa>Taa	p.Q968*	RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.Q920*|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.Q968*|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	968					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTAGATGAACAACTACCCAA	0.393																																																	0													107	103	104					6																	57018677		2203	4300	6503	SO:0001587	stop_gained	0			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"Zinc fingers, C2H2-type"	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2902C>T	6.37:g.57018677C>T	ENSP00000359740:p.Gln968*		Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q968*	ENST00000370706.4	37	c.2902	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	C	40	8.523252	0.98848	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	6.02	5.15	0.70609	.	0.224693	0.39909	N	0.001232	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-12.5198	14.3843	0.66934	0.269:0.731:0.0:0.0	.	.	.	.	X	968;920;968	.	ENSP00000350083:Q920X	Q	+	1	0	ZNF451	57126636	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	3.997000	0.57016	1.543000	0.49345	-0.175000	0.13238	CAA	ZNF451	-	NULL	ENSG00000112200		0.393	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2	-	0	35	0	C	NM_015555		57018677	1	tier1	-	no_errors	ENST00000370706	ensembl	human	known	74_37	nonsense	45.71	19	16	SNP	1.000	T	T	57018677	C	T	57018677	4	4	106	1	0	0	0	0	0	1	0	0	17970	479	17	3	2952	3	ZNF451	6	57018677	Nonsense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	14012980	57018677	114096390	62	29286											
ZNF292	23036	genome.wustl.edu	37	chr6	87967531	87967531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcactgggtgggcacttatCcaagcgatcttactgtaaac	11	11	9	10	1	2	0	1	0	1	0	3	1	3	0	1	2	3	2	1	2	5	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:87967531C>G	ENST00000369577.3	+	8	4227	c.4184C>G	c.(4183-4185)tCc>tGc	p.S1395C	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1390C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1395						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGCACTTATCCAAGCGATCT	0.448																																																	0													88	88	88					6																	87967531		1883	4121	6004	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"Zinc fingers, C2H2-type"	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4184C>G	6.37:g.87967531C>G	ENSP00000358590:p.Ser1395Cys		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1395C	ENST00000369577.3	37	c.4184	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412311	0.62511	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.26067	1.76;1.79	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	L	0.34521	1.04	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.21109	-1.0255	10	0.87932	D	0	.	19.0058	0.92851	0.0:1.0:0.0:0.0	.	1395	O60281	ZN292_HUMAN	C	1395;1390	ENSP00000358590:S1395C;ENSP00000342847:S1390C	ENSP00000342847:S1390C	S	+	2	0	ZNF292	88024250	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.818000	0.86416	2.496000	0.84212	0.650000	0.86243	TCC	ZNF292	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188994		0.448	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	-	0	46	0	C	NM_015021		87967531	1	tier1	-	no_errors	ENST00000369577	ensembl	human	known	74_37	missense	29.09	39	16	SNP	1.000	G	G	87967531	C	G	87967531	3	3	106	1	0	0	0	0	1	0	0	0	17874	855	30	5	4214	5	ZNF292	6	87967531	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	30948854	87967531	83147536	63	29287											
C6orf167	253714	genome.wustl.edu	37	chr6	97599743	97599743	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctgtggccagccttttaActagaaggaaaaattacagc	13	11	8	9	0	1	1	0	0	1	1	2	2	1	2	2	2	4	0	2	2	6	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:97599743A>T	ENST00000275053.4	-	23	3651	c.3386T>A	c.(3385-3387)gTt>gAt	p.V1129D	MMS22L_ENST00000369251.2_Splice_Site_p.V1089D	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1129					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGCCTTTTAACTAGAAGGAA	0.403																																																	0													113	115	114					6																	97599743		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3386-1T>A	6.37:g.97599743A>T			D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V1129D	ENST00000275053.4	37	c.3386	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	A	22.4	4.283098	0.80803	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.47528	3.0;0.84	5.44	5.44	0.79542	.	0.058089	0.64402	D	0.000002	T	0.61148	0.2324	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.65821	-0.6075	10	0.59425	D	0.04	.	15.4909	0.75605	1.0:0.0:0.0:0.0	.	1089;1129	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	D	1129;1089	ENSP00000275053:V1129D;ENSP00000358254:V1089D	ENSP00000275053:V1129D	V	-	2	0	MMS22L	97706464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.111000	0.64628	2.061000	0.61500	0.528000	0.53228	GTT	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.403	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	41	0	A	NM_198468	Missense_Mutation	97599743	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	T	T	97599743	A	T	97599743	5	4	106	1	0	0	0	0	0	0	1	0	2349	57	2	5	357	5	C6orf167	6	97599743	Splice_Site	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	9632212	97599743	73515324	64	29288											
C6orf167	253714	genome.wustl.edu	37	chr6	97613184	97613184	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatagtggctgtgtttctCaatgccagcaaaacaggatg	12	10	12	7	0	1	0	1	0	1	0	2	2	1	2	1	3	3	3	1	3	5	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr6:97613184C>G	ENST00000275053.4	-	21	3424	c.3159G>C	c.(3157-3159)ttG>ttC	p.L1053F	MMS22L_ENST00000369251.2_Missense_Mutation_p.L1013F	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1053					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTGTGTTTCTCAATGCCAGCA	0.363																																																	0													106	106	106					6																	97613184		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"chromosome 6 open reading frame 167"	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3159G>C	6.37:g.97613184C>G	ENSP00000275053:p.Leu1053Phe		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L1053F	ENST00000275053.4	37	c.3159	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258104	0.59321	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.54071	3.07;0.59	5.79	4.92	0.64577	.	0.209790	0.42548	D	0.000692	T	0.47229	0.1434	M	0.62723	1.935	0.38769	D	0.954519	P;D	0.55800	0.928;0.973	P;P	0.51016	0.541;0.656	T	0.54476	-0.8288	10	0.54805	T	0.06	-21.8493	11.3194	0.49412	0.0:0.8438:0.0:0.1562	.	1013;1053	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	F	1053;1013	ENSP00000275053:L1053F;ENSP00000358254:L1013F	ENSP00000275053:L1053F	L	-	3	2	MMS22L	97719905	0.929000	0.31497	0.995000	0.50966	0.687000	0.40016	0.410000	0.21098	1.443000	0.47586	0.655000	0.94253	TTG	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.363	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0	60	0	C	NM_198468		97613184	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	37.65	53	32	SNP	0.965	G	G	97613184	C	G	97613184	3	3	106	1	0	0	0	0	1	0	0	0	2349	825	29	5	592	5	C6orf167	6	97613184	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	13441	97613184	73501883	65	29289											
C7orf28A	51622	genome.wustl.edu	37	chr7	5951496	5951496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaatgtatttgcagttagCaggaagggattctccaataa	14	13	9	5	0	1	0	0	0	1	0	2	2	1	2	1	2	2	4	1	2	7	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:5951496C>T	ENST00000325974.6	+	9	851	c.785C>T	c.(784-786)gCa>gTa	p.A262V	CCZ1_ENST00000537980.1_Missense_Mutation_p.A119V	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	262						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						TTGCAGTTAGCAGGAAGGGAT	0.348																																																	0													20	21	20					7																	5951496		2143	4247	6390	SO:0001583	missense	0			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 28A"	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.785C>T	7.37:g.5951496C>T	ENSP00000325681:p.Ala262Val		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.A262V	ENST00000325974.6	37	c.785	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947059	0.73672	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	L	0.36672	1.1	0.80722	D	1	P	0.45348	0.856	B	0.43052	0.406	T	0.43750	-0.9372	9	0.17369	T	0.5	-12.9351	17.7943	0.88565	0.0:1.0:0.0:0.0	.	262	P86790	CCZ1L_HUMAN	V	262;119	.	ENSP00000325681:A262V	A	+	2	0	CCZ1	5918022	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	7.445000	0.80570	2.447000	0.82792	0.650000	0.86243	GCA	CCZ1	-	pfam_DUF1712_fun	ENSG00000122674		0.348	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	-	0	19	0	C	NM_015622		5951496	1	tier1	-	no_errors	ENST00000325974	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	T	T	5951496	C	T	5951496	3	4	106	1	0	0	0	0	1	0	0	0	2390	710	25	3	819	3	C7orf28A	7	5951496	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		5951496	153187167	66	29290											
CYTH3	9265	genome.wustl.edu	37	chr7	6210572	6210572	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggttgtggaggctggtgttGagcatgatgatggcgaatga	8	12	18	3	1	0	4	0	4	0	0	0	6	0	5	0	5	1	4	0	5	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:6210572G>C	ENST00000350796.3	-	8	736	c.600C>G	c.(598-600)ctC>ctG	p.L200L	CYTH3_ENST00000396741.2_Silent_p.L115L|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	200	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GGCTGGTGTTGAGCATGATGA	0.627																																																	0													172	123	140					7																	6210572		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.600C>G	7.37:g.6210572G>C			A4D2N8	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.L200	ENST00000350796.3	37	c.600	CCDS5346.1	7																																																																																			CYTH3	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000008256		0.627	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	-	0	65	0	G	NM_004227		6210572	-1	tier1	-	no_errors	ENST00000350796	ensembl	human	known	74_37	silent	19.40	108	26	SNP	0.943	C	C	6210572	G	C	6210572	2	2	106	1	0	0	0	0	0	0	0	1	4214	1277	45	5		5	CYTH3	7	6210572	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	259076	6210572	152928091	67	29291											
CYTH3	9265	genome.wustl.edu	37	chr7	6210939	6210939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagcctgaagctccataaGaactgcctgtggagacacca	12	6	11	12	0	0	3	0	1	0	2	1	4	1	3	4	2	4	2	4	2	3	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:6210939G>C	ENST00000350796.3	-	7	592	c.456C>G	c.(454-456)ttC>ttG	p.F152L	CYTH3_ENST00000396741.2_Missense_Mutation_p.F67L|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	152	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGCTCCATAAGAACTGCCTGT	0.597																																																	0													52	54	54					7																	6210939		2203	4300	6503	SO:0001583	missense	0			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"Pleckstrin homology (PH) domain containing"	9504	protein-coding gene	gene with protein product		605081	"pleckstrin homology, Sec7 and coiled-coil domains 3"	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.456C>G	7.37:g.6210939G>C	ENSP00000297044:p.Phe152Leu		A4D2N8	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.F152L	ENST00000350796.3	37	c.456	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984840	0.74474	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.55234	0.53;0.53	4.95	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.63169	1.94	0.58432	D	0.999999	P;P	0.48503	0.911;0.881	P;B	0.53722	0.733;0.376	T	0.59204	-0.7498	10	0.59425	D	0.04	.	7.6625	0.28410	0.327:0.0:0.673:0.0	.	67;152	B7Z2V9;O43739-2	.;.	L	152;67	ENSP00000297044:F152L;ENSP00000379967:F67L	ENSP00000297044:F152L	F	-	3	2	CYTH3	6177464	0.985000	0.35326	0.998000	0.56505	0.846000	0.48090	0.217000	0.17603	1.197000	0.43143	0.655000	0.94253	TTC	CYTH3	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000008256		0.597	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	-	0	30	0	G	NM_004227		6210939	-1	tier1	-	no_errors	ENST00000350796	ensembl	human	known	74_37	missense	29.31	41	17	SNP	1.000	C	C	6210939	G	C	6210939	3	2	106	1	0	0	0	0	1	0	0	0	4214	933	33	5	771	5	CYTH3	7	6210939	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	367	6210939	152927724	68	29292											
SNX13	23161	genome.wustl.edu	37	chr7	17929992	17929993	+	Missense_Mutation	DNP	GC	GC	CT																															tgtcgtgtccttacctagtaGcaaactgaatgagtgcgttt																										TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:17929992_17929993GC>CT	ENST00000409389.1	-	5	605_606	c.433_434GC>AG	c.(433-435)GCt>AGt	p.A145S	SNX13_ENST00000409604.1_Missense_Mutation_p.A145S|SNX13_ENST00000428135.3_Missense_Mutation_p.A145S			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	145	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTACCTAGTAGCAAACTGAATG	0.347																																																	0																																										SO:0001583	missense	0			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"Sorting nexins"	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.433_434delinsCT	7.37:g.17929992_17929993delinsCT	ENSP00000386705:p.Ala145Ser		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.A145G|p.A145T	ENST00000409389.1	37	c.434|c.433		7																																																																																			SNX13	-	pfam_Phox_assoc,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,pfscan_Phox_assoc	ENSG00000071189		0.347	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	-	0	43|42	0	G|C	NM_015132		17929992|17929993	-1	tier1	-	no_errors	ENST00000428135	ensembl	human	known	74_37	missense	55.17|52.63	26|27	32|30	SNP	1.000	C|T	CT	17929993	GC	CT	17929992	3	2	106	1	0	0	0	0	1	0	0	0	14929	971	34	5	2527	5	SNX13	7	17929992	Missense_Mutation	DNP	GC	TCGA-LN-A49U-01A-31D-A27G-09	11719053	17929992	141208671	69	29293											
OSBPL3	26031	genome.wustl.edu	37	chr7	24903154	24903155	+	Frame_Shift_Ins	INS	-	-	AGGA																															gtgccgagtatgtccgatgcINSaggacgtccatgctttgcag																										TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:24903154_24903155insAGGA	ENST00000313367.2	-	8	1188_1189	c.737_738insTCCT	c.(736-738)ctgfs	p.-246fs	OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.-246fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.-246fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.-246fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.-246fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.-246fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.-246fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ATGTCCGATGCAGGACGTCCAT	0.554																																																	0																																										SO:0001589	frameshift_variant	0			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.734_737dupTCCT	7.37:g.24903155_24903158dupAGGA	ENSP00000315410:p.Leu246fs		A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Ins	INS	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H247fs	ENST00000313367.2	37	c.738_737	CCDS5390.1	7																																																																																			OSBPL3	-	NULL	ENSG00000070882		0.554	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2		0	31	0	-			24903155	-1	tier1		no_errors	ENST00000313367	ensembl	human	known	74_37	frame_shift_ins	17.65	84	18	INS	0.998:1.000	AGGA	AGGA	24903155	-	AGGA	24903154	7	5	106	1	0	1	1	0	0	0	0	0	11318	697	25	0	1989	0	OSBPL3	7	24903154	Frame_Shift_Ins	INS	-	TCGA-LN-A49U-01A-31D-A27G-09	6973162	24903154	134235509	70	29294											
C7orf65	401335	genome.wustl.edu	37	chr7	47698758	47698758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccctggaaggatgctCaggcctggatactcattgtg	8	10	12	11	0	2	1	2	1	0	0	2	4	2	4	3	4	2	1	3	4	2	2	rs527897958	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:47698758C>A	ENST00000408988.2	+	3	423	c.388C>A	c.(388-390)Cag>Aag	p.Q130K		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	130										endometrium(1)|lung(2)	3						GAAGGATGCTCAGGCCTGGAT	0.547																																																	0													112	102	105					7																	47698758		1568	3582	5150	SO:0001583	missense	0				CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.388C>A	7.37:g.47698758C>A	ENSP00000386198:p.Gln130Lys		A4D2F8	Missense_Mutation	SNP	NULL	p.Q130K	ENST00000408988.2	37	c.388	CCDS43580.1	7	.	.	.	.	.	.	.	.	.	.	C	0.352	-0.944439	0.02304	.	.	ENSG00000221845	ENST00000408988	.	.	.	0.559	-0.658	0.11428	.	.	.	.	.	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	P	0.45594	0.862	B	0.31751	0.135	T	0.19516	-1.0303	7	0.87932	D	0	.	.	.	.	.	130	Q6ZTY9	CG065_HUMAN	K	130	.	ENSP00000386198:Q130K	Q	+	1	0	C7orf65	47665283	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	-0.097000	0.11042	-0.351000	0.08249	-0.367000	0.07326	CAG	C7orf65	-	NULL	ENSG00000221845		0.547	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C7orf65	HGNC	protein_coding	OTTHUMT00000340616.1	-	0	46	0	C	NM_001123065		47698758	1	tier1	-	no_errors	ENST00000408988	ensembl	human	putative	74_37	missense	27.17	67	25	SNP	0.003	A	A	47698758	C	A	47698758	3	1	106	1	0	0	0	0	1	0	0	0	2418	827	29	3	398	3	C7orf65	7	47698758	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	22795604	47698758	111439905	71	29295											
CCT6A	908	genome.wustl.edu	37	chr7	56125732	56125732	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggagcacggcatcctgatAtgaagaaaagggtggaggat	14	6	15	6	2	0	3	0	2	0	1	1	6	1	6	1	5	1	2	1	5	4	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:56125732A>T	ENST00000275603.4	+	6	880	c.661A>T	c.(661-663)Atg>Ttg	p.M221L	SNORA22_ENST00000383876.1_RNA|CCT6A_ENST00000540286.1_Missense_Mutation_p.M190L|CCT6A_ENST00000335503.3_Missense_Mutation_p.M176L|SNORA15_ENST00000384439.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	221					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCATCCTGATATGAAGAAAAG	0.388																																																	0													90	81	84					7																	56125732		2203	4300	6503	SO:0001583	missense	0			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"Heat Shock Proteins / Chaperonins"	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.661A>T	7.37:g.56125732A>T	ENSP00000275603:p.Met221Leu		A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.M221L	ENST00000275603.4	37	c.661	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789610	0.90367	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.70282	-0.47;-0.47;-0.47	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	H	0.97340	3.985	0.80722	D	1	P;P;P	0.35872	0.478;0.525;0.478	P;P;P	0.50934	0.545;0.654;0.545	D	0.90425	0.4420	10	0.87932	D	0	-27.2732	14.8746	0.70485	1.0:0.0:0.0:0.0	.	190;176;221	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	L	221;176;190;79	ENSP00000275603:M221L;ENSP00000352019:M176L;ENSP00000438488:M190L	ENSP00000275603:M221L	M	+	1	0	CCT6A	56093226	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.485000	0.90448	2.189000	0.69895	0.454000	0.30748	ATG	CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta	ENSG00000146731		0.388	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	-	0	60	0	A	NM_001762		56125732	1	tier1	-	no_errors	ENST00000275603	ensembl	human	known	74_37	missense	54.37	47	56	SNP	1.000	T	T	56125732	A	T	56125732	3	4	106	1	0	0	0	0	1	0	0	0	2964	449	16	5	683	5	CCT6A	7	56125732	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	8426974	56125732	103012931	72	29296											
COPS6	10980	genome.wustl.edu	37	chr7	99688533	99688533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccttcacagcttcctgtCagcgtttttgagtctgtcat	5	17	7	12	1	5	1	3	1	2	0	7	1	6	1	2	0	2	2	2	0	0	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:99688533C>T	ENST00000303904.3	+	6	532	c.495C>T	c.(493-495)gtC>gtT	p.V165V	COPS6_ENST00000418625.1_Silent_p.V164V|MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	165					cullin deneddylation (GO:0010388)|viral process (GO:0016032)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGCTTCCTGTCAGCGTTTTTG	0.438																																																	0													161	158	159					7																	99688533		2203	4300	6503	SO:0001819	synonymous_variant	0			BC002520	CCDS5682.1	7q22.1	2013-03-14	2013-03-14		ENSG00000168090	ENSG00000168090			21749	protein-coding gene	gene with protein product	"COP9 subunit 6 (MOV34 homolog, 34 kD)"	614729	"COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis)"			12477932	Standard	NM_006833		Approved	MOV34-34KD, CSN6	uc003usu.3	Q7L5N1	OTTHUMG00000154632	ENST00000303904.3:c.495C>T	7.37:g.99688533C>T			A4D2A3|O15387	Silent	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.V165	ENST00000303904.3	37	c.495	CCDS5682.1	7																																																																																			COPS6	-	smart_JAB_MPN_dom	ENSG00000168090		0.438	COPS6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COPS6	HGNC	protein_coding	OTTHUMT00000336412.3	-	0	23	0	C	NM_006833		99688533	1	tier1	-	no_errors	ENST00000303904	ensembl	human	known	74_37	silent	28.95	27	11	SNP	1.000	T	T	99688533	C	T	99688533	2	4	106	1	0	0	0	0	0	0	0	1	3744	813	29	3		3	COPS6	7	99688533	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	43562801	99688533	59450130	73	29297											
RELN	5649	genome.wustl.edu	37	chr7	103159843	103159843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctccattgacagaatattCcaagagaacaccttggttac	13	10	7	11	0	0	3	0	1	0	2	2	4	2	3	4	1	2	1	4	1	5	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:103159843C>T	ENST00000428762.1	-	49	7948	c.7789G>A	c.(7789-7791)Gaa>Aaa	p.E2597K	RELN_ENST00000343529.5_Missense_Mutation_p.E2597K|RELN_ENST00000424685.2_Missense_Mutation_p.E2597K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2597					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGAATATTCCAAGAGAACA	0.408																																					NSCLC(146;835 1944 15585 22231 52158)												0													161	133	143					7																	103159843		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7789G>A	7.37:g.103159843C>T	ENSP00000392423:p.Glu2597Lys		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.E2597K	ENST00000428762.1	37	c.7789	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.580229	0.96565	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.87	5.87	0.94306	Neuraminidase (3);	0.000000	0.85682	D	0.000000	T	0.43919	0.1269	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.952	T	0.15492	-1.0435	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	2597;2597	P78509-2;P78509	.;RELN_HUMAN	K	2597;2597;2597;114;2597	ENSP00000392423:E2597K;ENSP00000345694:E2597K;ENSP00000388446:E2597K	ENSP00000345694:E2597K	E	-	1	0	RELN	102947079	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.461000	0.80834	2.780000	0.95670	0.655000	0.94253	GAA	RELN	-	superfamily_Sialidases	ENSG00000189056		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	70	0	C	NM_005045		103159843	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	missense	19.86	113	28	SNP	1.000	T	T	103159843	C	T	103159843	3	4	106	1	0	0	0	0	1	0	0	0	13265	864	30	3	2661	3	RELN	7	103159843	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	3471310	103159843	55978820	74	29298											
PLXNA4	91584	genome.wustl.edu	37	chr7	131848918	131848918	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagggttttgtagtcaaTctgctggcggatgagcttgt	7	13	13	8	1	2	1	1	1	1	0	2	2	2	2	1	3	2	4	1	3	2	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:131848918T>A	ENST00000359827.3	-	24	5445	c.4483A>T	c.(4483-4485)Att>Ttt	p.I1495F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1495F			Q9HCM2	PLXA4_HUMAN	plexin A4	1495					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGTAGTCAATCTGCTGGCGG	0.602																																																	0													78	87	84					7																	131848918		2203	4300	6503	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4483A>T	7.37:g.131848918T>A	ENSP00000352882:p.Ile1495Phe		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.I1495F	ENST00000359827.3	37	c.4483	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	T	24.5	4.536672	0.85812	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15139	2.45;2.45	5.45	5.45	0.79879	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.34900	-0.9810	10	0.52906	T	0.07	.	15.542	0.76057	0.0:0.0:0.0:1.0	.	1495	Q9HCM2	PLXA4_HUMAN	F	1495	ENSP00000323194:I1495F;ENSP00000352882:I1495F	ENSP00000323194:I1495F	I	-	1	0	PLXNA4	131499458	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.289000	0.72696	2.064000	0.61679	0.533000	0.62120	ATT	PLXNA4	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000221866		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	47	0	T	NM_181775		131848918	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	53.16	37	42	SNP	1.000	A	A	131848918	T	A	131848918	3	1	106	1	0	0	0	0	1	0	0	0	12161	1435	50	5	1237	5	PLXNA4	7	131848918	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	28689075	131848918	27289745	75	29299											
SSPO	23145	genome.wustl.edu	37	chr7	149512296	149512296	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagagtctgcatccctgtgGgcagccctgcccccgctcct	4	8	10	19	1	1	1	0	0	1	1	3	1	3	1	6	1	3	3	6	1	0	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:149512296G>C	ENST00000378016.2	+	0	10616							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATCCCTGTGGGCAGCCCTGC	0.667																																																	0													34	41	39					7																	149512296		2021	4163	6184			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"subcommissural organ spondin", "SCO protein, thrombospondin domain containing"		"SCO-spondin homolog (Bos taurus)"			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149512296G>C			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.667	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0	29	0	G			149512296	1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	25.68	55	19	SNP	1.000	C	C	149512296	G	C	149512296	1	2	106	0	1	0	0	0	0	0	0	0	15236	1232	43	5		5	SSPO	7	149512296	RNA	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	17663378	149512296	9626367	76	29300											
PAXIP1	22976	genome.wustl.edu	37	chr7	154746044	154746044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acgacagaaatcgccgtcagGaacttcacggtgcgagtcac	12	6	11	12	5	3	1	3	0	0	1	4	4	3	2	1	2	2	0	1	2	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr7:154746044G>C	ENST00000404141.1	-	16	2896	c.2742C>G	c.(2740-2742)ttC>ttG	p.F914L	PAXIP1_ENST00000473219.1_5'UTR|RP11-5C23.1_ENST00000608064.1_RNA|RP11-5C23.2_ENST00000609134.1_RNA|PAXIP1_ENST00000397192.1_Missense_Mutation_p.F914L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	914	BRCT 5. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		TCGCCGTCAGGAACTTCACGG	0.517																																																	0													88	91	90					7																	154746044		2091	4223	6314	SO:0001583	missense	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2742C>G	7.37:g.154746044G>C	ENSP00000384048:p.Phe914Leu		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.F914L	ENST00000404141.1	37	c.2742	CCDS47753.1	7	.	.	.	.	.	.	.	.	.	.	G	11.33	1.608169	0.28623	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	D;D	0.86230	-2.09;-2.09	4.91	4.0	0.46444	BRCT (4);	0.000000	0.56097	U	0.000033	D	0.89615	0.6766	L	0.55213	1.73	0.49582	D	0.999805	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.79784	0.761;0.987;0.993	D	0.85943	0.1459	10	0.10111	T	0.7	-29.9759	12.2655	0.54676	0.0858:0.0:0.9142:0.0	.	867;880;914	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	L	914;914;738;867	ENSP00000384048:F914L;ENSP00000380376:F914L	ENSP00000319149:F867L	F	-	3	2	PAXIP1	154376977	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	4.681000	0.61663	1.007000	0.39238	0.650000	0.86243	TTC	PAXIP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.517	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	0	43	0	G	NM_007349		154746044	-1	tier1	-	no_errors	ENST00000397192	ensembl	human	known	74_37	missense	26.74	63	23	SNP	1.000	C	C	154746044	G	C	154746044	3	2	106	1	0	0	0	0	1	0	0	0	11526	1165	41	5	491	5	PAXIP1	7	154746044	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	5233748	154746044	4392619	77	29301											
BIN3	55909	genome.wustl.edu	37	chr8	22481554	22481554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcacaggccgcagctcCtctcgtgcctagggaacaag	8	6	11	16	3	1	0	0	0	1	0	4	1	3	1	4	2	3	3	4	2	3	1	rs199588752		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr8:22481554C>G	ENST00000276416.6	-	8	557	c.489G>C	c.(487-489)gaG>gaC	p.E163D	BIN3_ENST00000399977.4_Missense_Mutation_p.E115D|BIN3_ENST00000519513.1_Missense_Mutation_p.E109D|BIN3_ENST00000519335.1_5'UTR	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	163	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCCGCAGCTCCTCTCGTGCCT	0.627																																																	0													29	35	33					8																	22481554		2023	4173	6196	SO:0001583	missense	0				CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.489G>C	8.37:g.22481554C>G	ENSP00000276416:p.Glu163Asp		Q9BVG2|Q9NVY9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	p.E163D	ENST00000276416.6	37	c.489	CCDS47825.1	8	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503197	0.26949	.	.	ENSG00000147439	ENST00000276416;ENST00000519513;ENST00000399977	T;T;T	0.68765	-0.35;-0.35;-0.35	5.29	0.31	0.15825	BAR (3);	0.000000	0.85682	D	0.000000	T	0.59128	0.2171	L	0.51422	1.61	0.80722	D	1	B;P	0.37573	0.369;0.6	B;B	0.42495	0.222;0.389	T	0.50800	-0.8785	10	0.35671	T	0.21	-25.5012	8.1549	0.31162	0.0:0.3537:0.0:0.6462	.	163;163	Q9NQY0;Q53HW0	BIN3_HUMAN;.	D	163;109;115	ENSP00000276416:E163D;ENSP00000430423:E109D;ENSP00000382859:E115D	ENSP00000276416:E163D	E	-	3	2	BIN3	22537499	0.895000	0.30542	0.999000	0.59377	0.046000	0.14306	-0.042000	0.12063	0.034000	0.15491	-0.367000	0.07326	GAG	BIN3	-	pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom	ENSG00000147439		0.627	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	HGNC	protein_coding	OTTHUMT00000375895.1	-	0	26	0	C			22481554	-1	tier1	-	no_errors	ENST00000276416	ensembl	human	known	74_37	missense	29.58	50	21	SNP	0.999	G	G	22481554	C	G	22481554	3	3	106	1	0	0	0	0	1	0	0	0	1436	680	24	5	280	5	BIN3	8	22481554	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		22481554	123882468	78	29302											
CHRNB3	1142	genome.wustl.edu	37	chr8	42586882	42586882	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacggaactgttgtctggacCcctcccgccagctacaaaag	11	7	9	14	2	1	0	0	0	1	0	2	2	2	2	4	2	4	2	4	2	5	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr8:42586882C>T	ENST00000289957.2	+	5	560	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	144					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	TTGTCTGGACCCCTCCCGCCA	0.522																																																	0													61	53	56					8																	42586882		2203	4300	6503	SO:0001819	synonymous_variant	0			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1963	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 3 (neuronal)"	118508	"cholinergic receptor, nicotinic, beta polypeptide 3"			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.432C>T	8.37:g.42586882C>T			Q15827	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T144	ENST00000289957.2	37	c.432	CCDS6134.1	8																																																																																			CHRNB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000147432		0.522	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	-	0	32	0	C			42586882	1	tier1	-	no_errors	ENST00000289957	ensembl	human	known	74_37	silent	30.67	52	23	SNP	0.245	T	T	42586882	C	T	42586882	2	4	106	1	0	0	0	0	0	0	0	1	3399	610	22	3		3	CHRNB3	8	42586882	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	20105328	42586882	103777140	79	29303											
PABPC1	26986	genome.wustl.edu	37	chr8	101725016	101725016	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgttcatctcatccacaGccttccccccaaaaaaaaag	13	9	3	16	1	2	0	2	0	1	0	6	0	5	0	6	0	1	1	6	0	4	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr8:101725016G>T	ENST00000318607.5	-	6	1868	c.740C>A	c.(739-741)gCt>gAt	p.A247D	PABPC1_ENST00000519004.1_Splice_Site_p.A202D|PABPC1_ENST00000522387.1_Splice_Site_p.A215D|PABPC1_ENST00000519596.1_5'UTR	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	247	CSDE1-binding.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CTCATCCACAGCCTTCCCCCC	0.363																																																	0													70	64	66					8																	101725016		2203	4300	6503	SO:0001630	splice_region_variant	0			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"RNA binding motif (RRM) containing"	8554	protein-coding gene	gene with protein product		604679	"poly(A)-binding protein, cytoplasmic 2"	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.739-1C>A	8.37:g.101725016G>T			Q15097|Q93004	Missense_Mutation	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.A247D	ENST00000318607.5	37	c.740	CCDS6289.1	8	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	29.5|29.5|29.5	5.014547|5.014547|5.014547	0.93404|0.93404|0.93404	.|.|.	.|.|.	ENSG00000070756|ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000347137;ENST00000519004;ENST00000522387|ENST00000519100|ENST00000519596	T;T;T|.|.	0.38077|.|.	1.16;1.16;1.16|.|.	5.57|5.57|5.57	5.57|5.57|5.57	0.84162|0.84162|0.84162	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.|.	0.000000|.|.	0.64402|.|.	D|.|.	0.000012|.|.	D|D|D	0.91703|0.91703|0.91703	0.7377|0.7377|0.7377	H|H|H	0.99325|0.99325|0.99325	4.515|4.515|4.515	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	0.999;1.0;1.0|.|.	D;D;D|.|.	0.91635|.|.	0.986;0.999;0.998|.|.	D|D|D	0.94711|0.94711|0.94711	0.7892|0.7892|0.7892	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	19.9103|19.9103|19.9103	0.97024|0.97024|0.97024	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	215;247;247|.|.	E7ERJ7;B3KT93;P11940|.|.	.;.;PABP1_HUMAN|.|.	D|M|R	247;247;202;215|116|79	ENSP00000313007:A247D;ENSP00000429594:A202D;ENSP00000429395:A215D|.|.	ENSP00000313007:A247D|.|.	A|L|S	-|-|-	2|1|3	0|2|2	PABPC1|PABPC1|PABPC1	101794192|101794192|101794192	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.952000|0.952000|0.952000	0.60782|0.60782|0.60782	9.755000|9.755000|9.755000	0.98912|0.98912|0.98912	2.779000|2.779000|2.779000	0.95612|0.95612|0.95612	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCT|CTG|AGC	PABPC1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000070756		0.363	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC1	HGNC	protein_coding	OTTHUMT00000380217.1	-	0	17	0	G	NM_002568	Missense_Mutation	101725016	-1	tier1	-	no_errors	ENST00000318607	ensembl	human	known	74_37	missense	40.91	13	9	SNP	1.000	T	T	101725016	G	T	101725016	5	4	106	1	0	0	0	0	0	0	1	0	11402	985	34	3	1206	3	PABPC1	8	101725016	Splice_Site	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	59138134	101725016	44639006	80	29304											
CSMD3	114788	genome.wustl.edu	37	chr8	113316958	113316958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtatacttactttggcaaTatggtctttcatttctccaa	9	18	6	8	0	3	0	1	0	2	0	4	0	3	0	1	2	2	2	1	2	6	7			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr8:113316958T>C	ENST00000297405.5	-	52	8502	c.8258A>G	c.(8257-8259)tAt>tGt	p.Y2753C	CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2683C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2713C|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2753	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTGGCAATATGGTCTTTC	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													127	115	119					8																	113316958		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.8258A>G	8.37:g.113316958T>C	ENSP00000297405:p.Tyr2753Cys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Y2753C	ENST00000297405.5	37	c.8258	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957710	0.53400	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000352409	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.04	3.86	0.44501	Complement control module (2);Sushi/SCR/CCP (2);	0.325341	0.25358	N	0.031246	T	0.34571	0.0902	L	0.33339	1.005	0.35870	D	0.828134	D;B	0.63046	0.992;0.015	P;B	0.62813	0.907;0.016	T	0.35151	-0.9800	10	0.42905	T	0.14	.	11.4088	0.49913	0.1355:0.0:0.0:0.8645	.	2753;2713	Q7Z407;Q7Z407-2	CSMD3_HUMAN;.	C	2713;2753;2023;2683	ENSP00000345799:Y2713C;ENSP00000297405:Y2753C;ENSP00000341558:Y2023C;ENSP00000343124:Y2683C	ENSP00000297405:Y2753C	Y	-	2	0	CSMD3	113386134	1.000000	0.71417	0.987000	0.45799	0.985000	0.73830	2.707000	0.47143	0.818000	0.34468	0.533000	0.62120	TAT	CSMD3	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	49	0	T	NM_052900		113316958	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	27.45	37	14	SNP	0.994	C	C	113316958	T	C	113316958	3	2	106	1	0	0	0	0	1	0	0	0	3955	1406	49	4	2945	4	CSMD3	8	113316958	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	11591942	113316958	33047064	81	29305											
RHPN1	114822	genome.wustl.edu	37	chr8	144464122	144464122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgtcgctgctgcccagctCtagactgcccagcttggtga	5	10	13	13	1	1	2	0	1	1	1	2	2	1	2	2	2	5	4	2	2	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr8:144464122C>G	ENST00000289013.6	+	14	1882	c.1781C>G	c.(1780-1782)tCt>tGt	p.S594C		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	619	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)	p.S594F(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGCCCAGCTCTAGACTGCCC	0.692																																																	2	Substitution - Missense(2)	endometrium(2)											26	38	34					8																	144464122		2075	4210	6285	SO:0001583	missense	0			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1781C>G	8.37:g.144464122C>G	ENSP00000289013:p.Ser594Cys		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.S594C	ENST00000289013.6	37	c.1781	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657643	0.47467	.	.	ENSG00000158106	ENST00000289013	T	0.54479	0.57	4.59	2.52	0.30459	.	0.394487	0.21594	N	0.072055	T	0.38692	0.1050	N	0.22421	0.69	0.09310	N	1	P	0.51791	0.948	B	0.44163	0.443	T	0.23619	-1.0183	10	0.62326	D	0.03	-1.6315	9.503	0.39028	0.1518:0.7617:0.0:0.0865	.	594	Q8TCX5-2	.	C	594	ENSP00000289013:S594C	ENSP00000289013:S594C	S	+	2	0	RHPN1	144535265	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.205000	0.17356	0.914000	0.36822	0.462000	0.41574	TCT	RHPN1	-	NULL	ENSG00000158106		0.692	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	-	0	38	0	C			144464122	1	tier1	-	no_errors	ENST00000289013	ensembl	human	known	74_37	missense	43.52	61	47	SNP	0.022	G	G	144464122	C	G	144464122	3	3	106	1	0	0	0	0	1	0	0	0	13395	913	32	5	1835	5	RHPN1	8	144464122	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	31147164	144464122	1899900	82	29306											
RHPN1	114822	genome.wustl.edu	37	chr8	144464685	144464685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggttgcaagaccccggcatCcacgtgggccagtccccggc	6	6	13	16	3	0	1	0	0	0	1	2	1	2	1	6	4	1	3	6	4	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr8:144464685C>G	ENST00000289013.6	+	15	1978	c.1877C>G	c.(1876-1878)tCc>tGc	p.S626C		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	651					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACCCCGGCATCCACGTGGGCC	0.697																																																	0													16	20	19					8																	144464685		1909	4112	6021	SO:0001583	missense	0			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1877C>G	8.37:g.144464685C>G	ENSP00000289013:p.Ser626Cys		Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.S626C	ENST00000289013.6	37	c.1877	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	C	8.676	0.903932	0.17760	.	.	ENSG00000158106	ENST00000289013	T	0.54071	0.59	3.47	1.36	0.22044	.	0.766887	0.11433	N	0.564597	T	0.33933	0.0880	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.31806	-0.9930	10	0.59425	D	0.04	-5.68	10.7579	0.46247	0.0:0.6312:0.3688:0.0	.	626	Q8TCX5-2	.	C	626	ENSP00000289013:S626C	ENSP00000289013:S626C	S	+	2	0	RHPN1	144535828	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	0.640000	0.24705	0.741000	0.32674	-0.264000	0.10439	TCC	RHPN1	-	NULL	ENSG00000158106		0.697	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	-	0	15	0	C			144464685	1	tier1	-	no_errors	ENST00000289013	ensembl	human	known	74_37	missense	39.13	28	18	SNP	0.001	G	G	144464685	C	G	144464685	3	3	106	1	0	0	0	0	1	0	0	0	13395	855	30	5	1935	5	RHPN1	8	144464685	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	563	144464685	1899337	83	29307											
FOXH1	8928	genome.wustl.edu	37	chr8	145701071	145701071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcaggtacctcttcttcctCctcttagggggctgggaggg	4	11	14	12	1	3	0	0	0	3	0	5	1	5	1	3	5	1	3	3	5	2	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr8:145701071C>T	ENST00000377317.4	-	1	647	c.69G>A	c.(67-69)agG>agA	p.R23R	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	23					aorta morphogenesis (GO:0035909)|axial mesoderm development (GO:0048318)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|heart looping (GO:0001947)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|outflow tract morphogenesis (GO:0003151)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|secondary heart field specification (GO:0003139)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular trabecula myocardium morphogenesis (GO:0003222)	activin responsive factor complex (GO:0032444)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|co-SMAD binding (GO:0070410)|enhancer binding (GO:0035326)|protein domain specific binding (GO:0019904)|R-SMAD binding (GO:0070412)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TCTTCTTCCTCCTCTTAGGGG	0.672																																																	0													23	21	22					8																	145701071		2153	4223	6376	SO:0001819	synonymous_variant	0			AF076292	CCDS6428.1	8q24.3	2014-08-12			ENSG00000160973			"Forkhead boxes"	3814	protein-coding gene	gene with protein product		603621				9702198	Standard	NM_003923		Approved	FAST1	uc003zdc.3	O75593	OTTHUMG00000165172	ENST00000377317.4:c.69G>A	8.37:g.145701071C>T			D3DWM4	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.R23	ENST00000377317.4	37	c.69	CCDS6428.1	8																																																																																			FOXH1	-	NULL	ENSG00000160973		0.672	FOXH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXH1	HGNC	protein_coding	OTTHUMT00000382451.1	-	0	48	0	C			145701071	-1	tier1	-	no_errors	ENST00000377317	ensembl	human	known	74_37	silent	20.61	104	27	SNP	0.998	T	T	145701071	C	T	145701071	2	4	106	1	0	0	0	0	0	0	0	1	6032	854	30	3		3	FOXH1	8	145701071	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	1236386	145701071	662951	84	29308											
SMARCA2	6595	genome.wustl.edu	37	chr9	2056795	2056795	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcatgaccgagaagctgGagaagcagcagaagattgag	14	5	14	8	2	0	6	0	2	0	4	1	8	0	6	1	1	3	4	1	1	3	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:2056795G>T	ENST00000382203.1	+	7	1506	c.1297G>T	c.(1297-1299)Gag>Tag	p.E433*	SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.E433*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.E433*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.E433*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	433					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGAGAAGCTGGAGAAGCAGCA	0.557																																																	0													82	77	78					9																	2056795		2203	4300	6503	SO:0001587	stop_gained	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1297G>T	9.37:g.2056795G>T	ENSP00000371638:p.Glu433*		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.E433*	ENST00000382203.1	37	c.1297	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.140863	0.98092	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-31.4145	18.2849	0.90111	0.0:0.0:1.0:0.0	.	.	.	.	X	433	.	ENSP00000265773:E433X	E	+	1	0	SMARCA2	2046795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.832000	0.99423	2.403000	0.81681	0.655000	0.94253	GAG	SMARCA2	-	NULL	ENSG00000080503		0.557	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	-	0	68	0	G	NM_003070		2056795	1	tier1	-	no_errors	ENST00000349721	ensembl	human	known	74_37	nonsense	9.30	39	4	SNP	1.000	T	T	2056795	G	T	2056795	4	4	106	1	0	0	0	0	0	1	0	0	14814	1175	41	3	1319	3	SMARCA2	9	2056795	Nonsense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		2056795	139156636	85	29309											
AK3	50808	genome.wustl.edu	37	chr9	4719272	4719272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgatctgataagctctatCtagggcttctgcctgtggaa	8	13	11	9	1	4	1	0	1	4	0	5	3	4	2	1	2	2	2	1	2	4	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:4719272C>T	ENST00000381809.3	-	3	537	c.307G>A	c.(307-309)Gat>Aat	p.D103N	AK3_ENST00000359883.2_Missense_Mutation_p.D33N|AK3_ENST00000447596.4_Missense_Mutation_p.D63N	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	101					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	TAAGCTCTATCTAGGGCTTCT	0.463																																																	0													79	68	72					9																	4719272		2203	4300	6503	SO:0001583	missense	0			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"adenylate kinase 6", "adenylate kinase 3 like 1"	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.307G>A	9.37:g.4719272C>T	ENSP00000371230:p.Asp103Asn		B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.D103N	ENST00000381809.3	37	c.307	CCDS6455.1	9	.	.	.	.	.	.	.	.	.	.	c	11.90	1.777756	0.31502	.	.	ENSG00000147853	ENST00000381809;ENST00000359883;ENST00000474822;ENST00000447596	T;T;T	0.78595	-1.19;-1.19;-1.19	5.66	2.86	0.33363	.	0.134734	0.64402	D	0.000004	T	0.68238	0.2979	L	0.46157	1.445	0.41440	D	0.987912	B;B	0.09022	0.002;0.002	B;B	0.15870	0.014;0.007	T	0.63825	-0.6549	10	0.51188	T	0.08	-8.3301	7.894	0.29695	0.0:0.6865:0.1196:0.194	.	63;103	E7ET30;Q9UIJ7	.;KAD3_HUMAN	N	103;33;33;63	ENSP00000371230:D103N;ENSP00000352948:D33N;ENSP00000413933:D63N	ENSP00000352948:D33N	D	-	1	0	AK3	4709272	1.000000	0.71417	0.876000	0.34364	0.311000	0.27955	2.412000	0.44609	0.778000	0.33520	-0.121000	0.15023	GAT	AK3	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	ENSG00000147853		0.463	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AK3	HGNC	protein_coding	OTTHUMT00000051585.1	-	0	39	0	C	NM_016282		4719272	-1	tier1	-	no_errors	ENST00000381809	ensembl	human	known	74_37	missense	73.91	6	17	SNP	1.000	T	T	4719272	C	T	4719272	3	4	106	1	0	0	0	0	1	0	0	0	441	913	32	3	388	3	AK3	9	4719272	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	2662477	4719272	136494159	86	29310											
UBAP2	54926	genome.wustl.edu	37	chr9	33923379	33923379	+	IGR	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaagtacccctcacctGtactgtagccgtgctggcca	7	9	11	14	1	1	0	1	0	0	0	1	1	1	1	5	2	4	4	5	2	4	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:33923379G>C	ENST00000263228.3	+	0	4075				UBAP2_ENST00000379235.1_Missense_Mutation_p.T204R|UBAP2_ENST00000379238.1_Missense_Mutation_p.T965R|UBAP2_ENST00000379239.4_Missense_Mutation_p.T698R|UBAP2_ENST00000449054.1_Missense_Mutation_p.T965R|UBAP2_ENST00000539807.1_Missense_Mutation_p.T720R|UBAP2_ENST00000360802.1_Missense_Mutation_p.T965R	NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2						protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		CCCCTCACCTGTACTGTAGCC	0.587																																																	0													252	246	248					9																	33923379		2203	4300	6503	SO:0001628	intergenic_variant	0			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797		9.37:g.33923379G>C			D3DRL5|Q9NX64	Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.T965R	ENST00000263228.3	37	c.2894	CCDS6546.1	9	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517264	0.44763	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379235;ENST00000379239;ENST00000539807;ENST00000351580	T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21	5.85	5.85	0.93711	.	0.250227	0.47455	D	0.000222	T	0.44477	0.1295	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.42203	0.773;0.773;0.773;0.664	B;B;B;B	0.42422	0.387;0.387;0.387;0.216	T	0.37619	-0.9698	10	0.62326	D	0.03	-12.1694	20.5471	0.99284	0.0:0.0:1.0:0.0	.	720;698;874;965	F5H2U4;A6NCA8;F5H2C8;Q5T6F2	.;.;.;UBAP2_HUMAN	R	965;965;965;874;204;698;720;399	ENSP00000368540:T965R;ENSP00000416932:T965R;ENSP00000354039:T965R;ENSP00000368537:T204R;ENSP00000368541:T698R;ENSP00000439329:T720R	ENSP00000259602:T399R	T	-	2	0	UBAP2	33913379	1.000000	0.71417	0.970000	0.41538	0.164000	0.22412	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	ACA	UBAP2	-	NULL	ENSG00000137073		0.587	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000052118.1	-	0	38	0	G	NM_017811		33923379	-1	tier1	-	no_errors	ENST00000360802	ensembl	human	known	74_37	missense	32.43	50	24	SNP	1.000	C	C	33923379	G	C	33923379	1	2	106	0	1	0	0	0	0	0	0	0	16886	1377	48	5		5	UBAP2	9	33923379	IGR	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	29204107	33923379	107290052	87	29311											
PGM5	5239	genome.wustl.edu	37	chr9	71006576	71006576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaacctgacatatgcaaCgactcttctggaagcaatga	14	8	7	12	1	2	2	0	2	2	0	2	4	2	3	2	1	4	2	2	1	5	2	rs148242804		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:71006576C>T	ENST00000396396.1	+	5	1053	c.824C>T	c.(823-825)aCg>aTg	p.T275M	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.T275M	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	275					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACATATGCAACGACTCTTCTG	0.502																																																	0													113	109	111					9																	71006576		2201	4298	6499	SO:0001583	missense	0			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"phosphoglucomutase-related protein"	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.824C>T	9.37:g.71006576C>T	ENSP00000379678:p.Thr275Met		B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.T275M	ENST00000396396.1	37	c.824	CCDS6622.2	9	79	0.036172161172161175	8	0.016260162601626018	9	0.024861878453038673	19	0.033216783216783216	43	0.05672823218997362	.	19.18	3.778278	0.70107	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.63913	-0.07;-0.07;-0.07	4.92	4.92	0.64577	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.177992	0.48286	D	0.000200	T	0.16214	0.0390	N	0.10645	0.015	0.44012	D	0.99672	D	0.69078	0.997	D	0.67725	0.953	T	0.60929	-0.7165	10	0.72032	D	0.01	.	16.8751	0.86050	0.0:1.0:0.0:0.0	.	275	Q15124	PGM5_HUMAN	M	275;275;226;192	ENSP00000379678:T275M;ENSP00000379674:T275M;ENSP00000394864:T192M	ENSP00000366531:T226M	T	+	2	0	PGM5	70196396	0.995000	0.38212	0.967000	0.41034	0.992000	0.81027	3.210000	0.51129	2.274000	0.75844	0.555000	0.69702	ACG	PGM5	-	pfam_A-D-PHexomutase_a/b/a-II	ENSG00000154330		0.502	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2		0	113	0	C	NM_021965		71006576	1			no_errors	ENST00000396396	ensembl	human	known	74_37	missense	5.56	102	6	SNP	0.979	T	T	71006576	C	T	71006576	3	4	106	1	0	0	0	0	1	0	0	0	11840	536	19	1	842	1	PGM5	9	71006576	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	37083197	71006576	70206855	88	29312											
C9orf79	286234	genome.wustl.edu	37	chr9	90502183	90502183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgccccaccgcctgagcaGgagggagtccagaggccccc	7	3	14	17	1	0	2	0	1	0	1	1	4	1	4	7	3	2	2	7	3	0	0	rs556337873		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:90502183G>A	ENST00000325643.5	+	4	2847	c.2781G>A	c.(2779-2781)caG>caA	p.Q927Q		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	927					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGCCTGAGCAGGAGGGAGTCC	0.617																																																	0													44	47	46					9																	90502183		2201	4299	6500	SO:0001819	synonymous_variant	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"chromosome 9 open reading frame 79", "family with sequence similarity 75, member E1"	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2781G>A	9.37:g.90502183G>A			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.Q927	ENST00000325643.5	37	c.2781	CCDS6676.1	9																																																																																			SPATA31E1	-	NULL	ENSG00000177992		0.617	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	-	0	13	0	G	NM_178828		90502183	1	tier1	-	no_errors	ENST00000325643	ensembl	human	known	74_37	silent	41.67	21	15	SNP	0.000	A	A	90502183	G	A	90502183	2	1	106	1	0	0	0	0	0	0	0	1	2504	991	35	3		3	C9orf79	9	90502183	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	19495607	90502183	50711248	89	29313											
SEMA4D	10507	genome.wustl.edu	37	chr9	91994288	91994288	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttccaggacgtgcttGgcgaccacttggaagaccgt	8	10	11	12	3	1	1	1	0	0	1	2	4	2	3	3	3	1	1	3	3	1	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:91994288G>T	ENST00000450295.1	-	16	2696	c.1920C>A	c.(1918-1920)gcC>gcA	p.A640A	SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Silent_p.A640A|SEMA4D_ENST00000438547.2_Silent_p.A640A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.A640A|SEMA4D_ENST00000343780.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	640					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GGACGTGCTTGGCGACCACTT	0.512																																																	0													191	191	191					9																	91994288		2203	4300	6503	SO:0001819	synonymous_variant	0			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"Semaphorins", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10732	protein-coding gene	gene with protein product	"M-sema G"	601866	"chromosome 9 open reading frame 164"	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1920C>A	9.37:g.91994288G>T			B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A640	ENST00000450295.1	37	c.1920	CCDS6685.1	9																																																																																			SEMA4D	-	smart_Ig_sub	ENSG00000187764		0.512	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	HGNC	protein_coding	OTTHUMT00000342411.1		0	56	0	G	NM_006378		91994288	-1			no_errors	ENST00000356444	ensembl	human	known	74_37	silent	6.15	60	4	SNP	0.925	T	T	91994288	G	T	91994288	2	4	106	1	0	0	0	0	0	0	0	1	14079	1335	47	3		3	SEMA4D	9	91994288	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	1492105	91994288	49219143	90	29314											
CORO2A	7464	genome.wustl.edu	37	chr9	100892121	100892121	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtactcagtcaggtagcTcaggtgaggcttgtcggcgc	6	9	16	10	3	3	1	3	1	0	0	4	1	3	1	0	5	2	4	0	5	2	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:100892121T>A	ENST00000343933.5	-	8	1179	c.922A>T	c.(922-924)Agc>Tgc	p.S308C	CORO2A_ENST00000375077.4_Missense_Mutation_p.S308C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	308					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTCAGGTAGCTCAGGTGAGGC	0.567																																																	0													183	141	155					9																	100892121		2203	4300	6503	SO:0001583	missense	0			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"Coronins", "WD repeat domain containing"	2255	protein-coding gene	gene with protein product	"coronin 2A", "coronin-like protein B", "WD protein IR10", "WD-repeat protein 2"	602159	"coronin, actin-binding protein, 2A"			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.922A>T	9.37:g.100892121T>A	ENSP00000343746:p.Ser308Cys		Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S308C	ENST00000343933.5	37	c.922	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	T	23.1	4.368838	0.82463	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.30448	1.53;1.53	4.99	3.86	0.44501	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);Domain of unknown function DUF1900 (1);	0.415818	0.30959	N	0.008524	T	0.31263	0.0791	L	0.28504	0.86	0.27880	N	0.939715	D	0.54207	0.965	P	0.55545	0.778	T	0.08700	-1.0709	10	0.56958	D	0.05	-7.6004	5.7068	0.17913	0.0:0.088:0.2812:0.6308	.	308	Q92828	COR2A_HUMAN	C	308	ENSP00000343746:S308C;ENSP00000364218:S308C	ENSP00000343746:S308C	S	-	1	0	CORO2A	99931942	1.000000	0.71417	0.642000	0.29436	0.995000	0.86356	3.961000	0.56759	0.935000	0.37341	0.454000	0.30748	AGC	CORO2A	-	pfam_DUF1900,superfamily_WD40_repeat_dom	ENSG00000106789		0.567	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	-	0	50	0	T	NM_003389		100892121	-1	tier1	-	no_errors	ENST00000343933	ensembl	human	known	74_37	missense	43.90	45	36	SNP	0.997	A	A	100892121	T	A	100892121	3	1	106	1	0	0	0	0	1	0	0	0	3763	1551	54	5	675	5	CORO2A	9	100892121	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	8897833	100892121	40321310	91	29315											
DFNB31	25861	genome.wustl.edu	37	chr9	117165569	117165569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgatgcccagggtggcCgcacttttcttcacacggac	7	9	12	13	3	2	0	1	0	1	0	2	2	2	1	2	4	1	1	2	4	0	3	rs144207463		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:117165569C>T	ENST00000362057.3	-	11	2637	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	DFNB31_ENST00000265134.6_Silent_p.A440A|DFNB31_ENST00000374059.3_Silent_p.A472A	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	823	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGGGTGGCCGCACTTTTCT	0.617													C|||	1	0.000199681	8e-04	0	5008	,	,		16614	0		0	False		,,,				2504	0																0								C	,,	3,4403	8.1+/-20.4	0,3,2200	55	59	57		1320,2466,2469	-9.9	0.6	9	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DFNB31	NM_001083885.2,NM_001173425.1,NM_015404.3	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	440/525,822/907,823/908	117165569	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2469G>A	9.37:g.117165569C>T			A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A823	ENST00000362057.3	37	c.2469	CCDS6806.1	9																																																																																			DFNB31	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ	ENSG00000095397		0.617	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	-	0	48	0	C	NM_015404		117165569	-1	tier1	rs144207463	no_errors	ENST00000362057	ensembl	human	known	74_37	silent	46.67	48	42	SNP	0.020	T	T	117165569	C	T	117165569	2	4	106	1	0	0	0	0	0	0	0	1	4469	639	23	1		1	DFNB31	9	117165569	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	16273448	117165569	24047862	92	29316											
OR1L6	392390	genome.wustl.edu	37	chr9	125512921	125512921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctattttaggcccctgtcCatgtactcagtggttaggga	7	14	11	9	0	2	0	1	0	1	0	3	1	3	1	3	3	1	2	3	3	4	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:125512921C>T	ENST00000373684.1	+	1	903	c.903C>T	c.(901-903)tcC>tcT	p.S301S	OR1L6_ENST00000304720.2_Silent_p.S265S			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGCCCCTGTCCATGTACTCAG	0.493																																																	0													99	86	91					9																	125512921		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"GPCR / Class A : Olfactory receptors"	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.903C>T	9.37:g.125512921C>T			Q6IFM8|Q96R80	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S301	ENST00000373684.1	37	c.903		9																																																																																			OR1L6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000171459		0.493	OR1L6-201	KNOWN	basic	protein_coding	OR1L6	HGNC	protein_coding		-	0	64	0	C			125512921	1	tier1	-	no_errors	ENST00000373684	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T	T	125512921	C	T	125512921	2	4	106	1	0	0	0	0	0	0	0	1	11005	581	21	3		3	OR1L6	9	125512921	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	8347352	125512921	15700510	93	29317											
CRB2	286204	genome.wustl.edu	37	chr9	126133015	126133015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacggcttcggcaactccGctgcctgccgggatctcctc	4	9	10	18	4	1	0	0	0	1	0	6	1	3	1	5	3	3	3	5	3	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr9:126133015G>A	ENST00000373631.3	+	7	1684	c.1683G>A	c.(1681-1683)ccG>ccA	p.P561P	CRB2_ENST00000359999.3_Silent_p.P561P|CRB2_ENST00000373629.2_Silent_p.P229P	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	561	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCAACTCCGCTGCCTGCCG	0.682																																																	0													48	49	49					9																	126133015		2203	4299	6502	SO:0001819	synonymous_variant	0			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"crumbs homolog 2 (Drosophila)"			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1683G>A	9.37:g.126133015G>A			A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.P561	ENST00000373631.3	37	c.1683	CCDS6852.2	9																																																																																			CRB2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000148204		0.682	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	-	0	35	0	G	NM_173689		126133015	1	tier1	-	no_errors	ENST00000373631	ensembl	human	known	74_37	silent	41.18	29	21	SNP	0.000	A	A	126133015	G	A	126133015	2	1	106	1	0	0	0	0	0	0	0	1	3856	1074	38	1		1	CRB2	9	126133015	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	620094	126133015	15080416	94	29318											
CDC123	8872	genome.wustl.edu	37	chr10	12277093	12277093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcctggggctgagtttcGatgttttgtcaaggaaaaca	10	13	12	6	1	1	1	1	1	0	0	3	4	2	2	1	3	1	3	1	3	3	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr10:12277093G>A	ENST00000281141.4	+	8	816	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	CDC123_ENST00000378900.2_Missense_Mutation_p.R179Q|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	179					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCTGAGTTTCGATGTTTTGTC	0.333																																																	0													216	204	208					10																	12277093		2203	4300	6503	SO:0001583	missense	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 7", "cell division cycle 123 homolog (S. cerevisiae)"	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.536G>A	10.37:g.12277093G>A	ENSP00000281141:p.Arg179Gln		A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	pfam_D123,pirsf_Cell_div_Cdc123	p.R179Q	ENST00000281141.4	37	c.536	CCDS7090.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.499324	0.96355	.	.	ENSG00000151465	ENST00000281141;ENST00000378900;ENST00000442050;ENST00000455773	.	.	.	5.8	5.8	0.92144	.	0.052869	0.64402	D	0.000001	D	0.87398	0.6167	H	0.94771	3.58	0.54753	D	0.999989	D	0.89917	1.0	D	0.75484	0.986	D	0.90263	0.4302	9	0.87932	D	0	-12.8722	18.8303	0.92135	0.0:0.0:1.0:0.0	.	179	O75794	CD123_HUMAN	Q	179;179;147;137	.	ENSP00000281141:R179Q	R	+	2	0	CDC123	12317099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.284000	0.89912	2.732000	0.93576	0.650000	0.86243	CGA	CDC123	-	pfam_D123,pirsf_Cell_div_Cdc123	ENSG00000151465		0.333	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1	-	0	97	0	G	NM_006023		12277093	1	tier1	-	no_errors	ENST00000281141	ensembl	human	known	74_37	missense	16.74	179	36	SNP	1.000	A	A	12277093	G	A	12277093	3	1	106	1	0	0	0	0	1	0	0	0	3062	1058	37	1	566	1	CDC123	10	12277093	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		12277093	123257654	95	29319											
ACBD5	91452	genome.wustl.edu	37	chr10	27497335	27497335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccacttcccacctgcCggcccttggttccttcgctc	3	11	6	21	2	0	0	0	0	0	0	5	0	3	0	7	2	1	2	7	2	0	4	rs543720340		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr10:27497335C>T	ENST00000375888.1	-	10	1335	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q	ACBD5_ENST00000375897.3_Missense_Mutation_p.R238Q|ACBD5_ENST00000396271.3_Missense_Mutation_p.R415Q|ACBD5_ENST00000375901.1_Missense_Mutation_p.R306Q|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.R380Q			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	424					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCCACCTGCCGGCCCTTGGT	0.502																																																	0													79	74	76					10																	27497335		2203	4300	6503	SO:0001583	missense	0			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"acyl-Coenzyme A binding domain containing 5"			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1271G>A	10.37:g.27497335C>T	ENSP00000365049:p.Arg424Gln		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein	p.R424Q	ENST00000375888.1	37	c.1271		10	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308574	0.40895	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	D;T;T;T;T	0.84589	-1.87;2.2;1.46;1.44;2.44	5.63	2.8	0.32819	.	0.579935	0.19329	N	0.116927	T	0.80529	0.4640	M	0.63428	1.95	0.24898	N	0.992123	P;P;P;P	0.45957	0.869;0.746;0.63;0.63	B;B;B;B	0.38428	0.273;0.273;0.141;0.241	T	0.69139	-0.5224	10	0.35671	T	0.21	-5.0147	11.0565	0.47922	0.0:0.8:0.0:0.2	.	415;238;413;424	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	Q	421;415;380;306;238;424	ENSP00000379568:R415Q;ENSP00000365070:R380Q;ENSP00000365066:R306Q;ENSP00000365062:R238Q;ENSP00000365049:R424Q	ENSP00000365049:R424Q	R	-	2	0	ACBD5	27537341	0.985000	0.35326	0.953000	0.39169	0.821000	0.46438	1.265000	0.33027	0.420000	0.25954	0.585000	0.79938	CGG	ACBD5	-	pirsf_M-assoc_diazepam-bd-inh	ENSG00000107897		0.502	ACBD5-005	KNOWN	basic	protein_coding	ACBD5	HGNC	protein_coding	OTTHUMT00000047314.1	-	0	31	0	C	NM_145698		27497335	-1	tier1	-	no_errors	ENST00000375888	ensembl	human	known	74_37	missense	46.15	35	30	SNP	0.895	T	T	27497335	C	T	27497335	3	4	106	1	0	0	0	0	1	0	0	0	125	652	23	1	349	1	ACBD5	10	27497335	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	15220242	27497335	108037412	96	29320											
CCNY	219771	genome.wustl.edu	37	chr10	35805450	35805450	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttgctgttgttttctaGcatcctccaggacaaatagc	8	15	7	11	0	2	0	0	0	2	0	4	1	4	1	2	1	3	4	2	1	3	7			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr10:35805450G>A	ENST00000374704.4	+	4	444		c.e4-1		CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000492478.1_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000374706.1_Splice_Site	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGTTTTCTAGCATCCTCCAG	0.408																																																	0													106	95	99					10																	35805450		2203	4300	6503	SO:0001630	splice_region_variant	0			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"chromosome 10 open reading frame 9"	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.265-1G>A	10.37:g.35805450G>A			B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Splice_Site	SNP	-	e4-1	ENST00000374704.4	37	c.265-1	CCDS7189.1	10	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001893	0.93227	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0558	0.93064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNY	35845456	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.562000	0.82300	2.840000	0.97914	0.655000	0.94253	.	CCNY	-	-	ENSG00000108100		0.408	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNY	HGNC	protein_coding	OTTHUMT00000047568.2	-	0	57	0	G	NM_181698	Intron	35805450	1	tier1	-	no_errors	ENST00000374704	ensembl	human	known	74_37	splice_site	23.60	68	21	SNP	1.000	A	A	35805450	G	A	35805450	5	1	106	1	0	0	0	0	0	0	1	0	2943	985	34	3	278	3	CCNY	10	35805450	Splice_Site	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	8308115	35805450	99729297	97	29321											
ANKRD30A	91074	genome.wustl.edu	37	chr10	37486225	37486225	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagagcctcccgagaagccAtctgccttcgaggtatttag	9	11	10	11	2	1	2	0	0	1	2	3	4	2	2	4	1	3	1	4	1	4	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr10:37486225A>C	ENST00000602533.1	+	28	2562	c.2463A>C	c.(2461-2463)ccA>ccC	p.P821P	ANKRD30A_ENST00000374660.1_Silent_p.P940P|ANKRD30A_ENST00000361713.1_Silent_p.P821P			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	877					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCGAGAAGCCATCTGCCTTCG	0.323																																																	0													189	158	168					10																	37486225		1811	4084	5895	SO:0001819	synonymous_variant	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2463A>C	10.37:g.37486225A>C			Q5W025	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P821	ENST00000602533.1	37	c.2463		10																																																																																			ANKRD30A	-	NULL	ENSG00000148513		0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	-	0	139	0	A	NM_052997		37486225	1	tier1	-	no_errors	ENST00000361713	ensembl	human	known	74_37	silent	41.62	108	77	SNP	0.000	C	C	37486225	A	C	37486225	2	2	106	1	0	0	0	0	0	0	0	1	658	204	8	4		4	ANKRD30A	10	37486225	Silent	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	1680775	37486225	98048522	98	29322											
PHYHIPL	84457	genome.wustl.edu	37	chr10	60994160	60994161	+	Frame_Shift_Del	DEL	TT	TT	-																															aacgtgtgactcattcaagaTttcatgggaaatggattcaa																										TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr10:60994160_60994161delTT	ENST00000373880.4	+	2	467_468	c.203_204delTT	c.(202-204)attfs	p.I68fs	PHYHIPL_ENST00000373878.3_Frame_Shift_Del_p.I42fs	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	68	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TCATTCAAGATTTCATGGGAAA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"Fibronectin type III domain containing"	29378	protein-coding gene	gene with protein product			"phytanoyl-CoA hydroxylase interacting protein-like"			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.203_204delTT	10.37:g.60994160_60994161delTT	ENSP00000362987:p.Ile68fs		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S69fs	ENST00000373880.4	37	c.203_204	CCDS7254.1	10																																																																																			PHYHIPL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165443		0.361	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHIPL	HGNC	protein_coding	OTTHUMT00000048156.1		0	36	0	TT	NM_032439		60994161	1	tier1		no_errors	ENST00000373880	ensembl	human	known	74_37	frame_shift_del	14.29	36	6	DEL	1.000:1.000	-	-	60994161	TT	-	60994160	7	5	106	1	0	1	0	1	0	0	0	0	11906	1493	52	0	241	0	PHYHIPL	10	60994160	Frame_Shift_Del	DEL	TT	TCGA-LN-A49U-01A-31D-A27G-09	23507935	60994160	74540587	99	29323											
NOC3L	64318	genome.wustl.edu	37	chr10	96100090	96100090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagaatttcaatggatcaaTattcagaacatcacctttga	15	13	6	7	0	4	3	4	1	0	2	4	4	4	4	1	1	1	1	1	1	6	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr10:96100090T>C	ENST00000371361.3	-	16	1823	c.1723A>G	c.(1723-1725)Att>Gtt	p.I575V	NOC3L_ENST00000543788.1_Missense_Mutation_p.I313V|NOC3L_ENST00000371350.1_Missense_Mutation_p.I575V	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	575					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AATGGATCAATATTCAGAACA	0.289																																																	0													112	108	109					10																	96100090		2203	4298	6501	SO:0001583	missense	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"chromosome 10 open reading frame 117"	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1723A>G	10.37:g.96100090T>C	ENSP00000360412:p.Ile575Val		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.I575V	ENST00000371361.3	37	c.1723	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224187	0.39300	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.22336	1.96;1.96;1.96	5.41	5.41	0.78517	CCAAT-binding factor (1);	0.051425	0.85682	D	0.000000	T	0.15652	0.0377	N	0.25245	0.725	0.46954	D	0.999264	P	0.39443	0.674	B	0.41088	0.347	T	0.02539	-1.1144	10	0.06494	T	0.89	-21.566	15.7499	0.77976	0.0:0.0:0.0:1.0	.	575	Q8WTT2	NOC3L_HUMAN	V	313;575;575	ENSP00000437838:I313V;ENSP00000360412:I575V;ENSP00000360401:I575V	ENSP00000360401:I575V	I	-	1	0	NOC3L	96090080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.840000	0.69402	2.188000	0.69820	0.533000	0.62120	ATT	NOC3L	-	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.289	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	-	0	92	0	T	NM_022451		96100090	-1	tier1	-	no_errors	ENST00000371350	ensembl	human	known	74_37	missense	41.59	66	47	SNP	1.000	C	C	96100090	T	C	96100090	3	2	106	1	0	0	0	0	1	0	0	0	10553	1406	49	4	703	4	NOC3L	10	96100090	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	35105930	96100090	39434657	100	29324											
ADAM8	101	genome.wustl.edu	37	chr10	135086008	135086008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagtgtgacactggggtCggggctgacgtggaacctgt	6	9	16	10	2	0	2	0	2	0	0	2	3	1	3	2	5	1	1	2	5	1	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr10:135086008C>T	ENST00000445355.3	-	9	837	c.787G>A	c.(787-789)Gac>Aac	p.D263N	ADAM8_ENST00000485491.2_Missense_Mutation_p.D224N|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.D263N	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	263	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACACTGGGGTCGGGGCTGACG	0.592																																																	0													95	83	87					10																	135086008		2201	4300	6501	SO:0001583	missense	0			D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"ADAM metallopeptidase domain containing", "CD molecules"	215	protein-coding gene	gene with protein product		602267	"a disintegrin and metalloproteinase domain 8"			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.787G>A	10.37:g.135086008C>T	ENSP00000453302:p.Asp263Asn		B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D263N	ENST00000445355.3	37	c.787	CCDS31319.2	10																																																																																			ADAM8	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000151651		0.592	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM8	HGNC	protein_coding	OTTHUMT00000051118.4	-	0	75	0	C	NM_001109		135086008	-1	tier1	-	no_errors	ENST00000445355	ensembl	human	known	74_37	missense	70.00	21	49	SNP	0.000	T	T	135086008	C	T	135086008	3	4	106	1	0	0	0	0	1	0	0	0	252	884	31	1	1665	1	ADAM8	10	135086008	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	38985918	135086008	448739	101	29325											
CARS	833	genome.wustl.edu	37	chr11	3040371	3040371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gactctgttttcacctacctCcgactgtgccagctcattgt	6	14	7	14	1	3	0	2	0	1	0	4	2	4	0	4	0	3	2	4	0	1	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:3040371C>T	ENST00000397111.5	-	11	1389	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	CARS_ENST00000380525.4_Missense_Mutation_p.E465K|CARS_ENST00000397114.3_Missense_Mutation_p.E372K|CARS_ENST00000278224.9_Missense_Mutation_p.E382K|CARS_ENST00000401769.3_Missense_Mutation_p.E395K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	382					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	TCACCTACCTCCGACTGTGCC	0.587			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													142	128	133					11																	3040371		2202	4298	6500	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	1493	protein-coding gene	gene with protein product	"cysteine tRNA ligase 1, cytoplasmic"	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1144G>A	11.37:g.3040371C>T	ENSP00000380300:p.Glu382Lys		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.E465K	ENST00000397111.5	37	c.1393	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014555	0.93404	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.55413	0.52;0.53;0.53;0.53;0.52	4.31	4.31	0.51392	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.989;1.0;1.0;1.0;0.989;1.0	T	0.82896	-0.0230	10	0.72032	D	0.01	-43.6251	16.9805	0.86326	0.0:1.0:0.0:0.0	.	395;465;382;382;465;372	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	K	465;382;382;372;395	ENSP00000369897:E465K;ENSP00000380300:E382K;ENSP00000278224:E382K;ENSP00000380303:E372K;ENSP00000384069:E395K	ENSP00000278224:E382K	E	-	1	0	CARS	2996947	1.000000	0.71417	0.985000	0.45067	0.656000	0.38851	7.154000	0.77437	2.234000	0.73211	0.591000	0.81541	GAG	CARS	-	pfam_Cys-tRNA/MSH_ligase,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	ENSG00000110619		0.587	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	-	0	54	0	C	NM_001751		3040371	-1	tier1	-	no_errors	ENST00000380525	ensembl	human	known	74_37	missense	40.35	34	23	SNP	1.000	T	T	3040371	C	T	3040371	3	4	106	1	0	0	0	0	1	0	0	0	2664	864	30	3	1158	3	CARS	11	3040371	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		3040371	131966145	102	29326											
ZNF214	7761	genome.wustl.edu	37	chr11	7021950	7021950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctgtgtggactctttGatgattgtgaagactagaga	9	15	11	6	0	3	5	0	3	3	2	3	7	3	6	0	1	0	0	0	1	2	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:7021950G>T	ENST00000278314.4	-	3	1279	c.964C>A	c.(964-966)Caa>Aaa	p.Q322K	ZNF214_ENST00000536068.1_Missense_Mutation_p.Q322K|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGGACTCTTTGATGATTGTGA	0.398																																					Ovarian(22;251 657 736 21522 46864)												0													105	110	108					11																	7021950		2200	4294	6494	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.964C>A	11.37:g.7021950G>T	ENSP00000278314:p.Gln322Lys		B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q322K	ENST00000278314.4	37	c.964	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	G	11.39	1.625677	0.28889	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.53423	0.62;0.62	3.46	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.345430	0.21229	N	0.078016	T	0.30166	0.0756	N	0.17800	0.525	0.23454	N	0.997648	B	0.25609	0.13	B	0.15870	0.014	T	0.19418	-1.0306	10	0.46703	T	0.11	.	10.7323	0.46104	0.0:0.0:1.0:0.0	.	322	Q9UL59	ZN214_HUMAN	K	322	ENSP00000278314:Q322K;ENSP00000445373:Q322K	ENSP00000278314:Q322K	Q	-	1	0	ZNF214	6978526	0.993000	0.37304	0.970000	0.41538	0.822000	0.46500	0.818000	0.27295	2.221000	0.72209	0.655000	0.94253	CAA	ZNF214	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000149050		0.398	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1	-	0	66	0	G			7021950	-1	tier1	-	no_errors	ENST00000278314	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	7021950	G	T	7021950	3	4	106	1	0	0	0	0	1	0	0	0	17818	1299	45	3	860	3	ZNF214	11	7021950	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	3981579	7021950	127984566	103	29327											
COPB1	1315	genome.wustl.edu	37	chr11	14498549	14498549	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccaggatccataatgcTcctcggtaaatcctagcaca	11	10	6	14	1	1	0	0	0	1	0	6	1	4	1	4	2	2	3	4	2	4	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:14498549T>C	ENST00000249923.3	-	12	1671	c.1371A>G	c.(1369-1371)ggA>ggG	p.G457G	RNU7-49P_ENST00000516182.1_RNA|COPB1_ENST00000439561.2_Silent_p.G457G|COPB1_ENST00000526191.1_5'Flank	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	457					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCCATAATGCTCCTCGGTAAA	0.393																																																	0													156	143	147					11																	14498549		2200	4294	6494	SO:0001819	synonymous_variant	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"coatomer protein complex, subunit beta"	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1371A>G	11.37:g.14498549T>C			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.G457	ENST00000249923.3	37	c.1371	CCDS7815.1	11																																																																																			COPB1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	ENSG00000129083		0.393	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0	43	0	T	NM_016451		14498549	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	silent	29.27	29	12	SNP	1.000	C	C	14498549	T	C	14498549	2	2	106	1	0	0	0	0	0	0	0	1	3735	1538	54	4		4	COPB1	11	14498549	Silent	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	7476599	14498549	120507967	104	29328											
CALCB	797	genome.wustl.edu	37	chr11	15096643	15096643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcccagacccggccacactCagtaaagaggacgcgcgcct	11	3	11	16	4	1	2	1	0	0	2	1	3	1	3	4	2	1	1	4	2	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:15096643C>T	ENST00000533448.1	+	3	234	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CALCB_ENST00000523376.1_Silent_p.L52L|CALCB_ENST00000324229.6_Silent_p.L41L			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	41					cellular calcium ion homeostasis (GO:0006874)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CGGCCACACTCAGTAAAGAGG	0.622											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56	59	58					11																	15096643		2200	4294	6494	SO:0001819	synonymous_variant	0				CCDS7820.1	11p14.2-p12	2013-02-25	2008-02-20			ENSG00000175868		"Endogenous ligands"	1438	protein-coding gene	gene with protein product		114160	"calcitonin 2"	CALC2			Standard	NM_000728		Approved	FLJ30166, CGRP-II	uc001mlx.1	P10092		ENST00000533448.1:c.123C>T	11.37:g.15096643C>T		700	A8K573|D3DQX4|Q569I0|Q9UCN9	Silent	SNP	pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep	p.L41	ENST00000533448.1	37	c.123	CCDS7820.1	11																																																																																			CALCB	-	pfam_Procalcitonin/adrenomedullin	ENSG00000175868		0.622	CALCB-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CALCB	HGNC	protein_coding	OTTHUMT00000387433.1	-	0	44	0	C	NM_000728		15096643	1	tier1	-	no_errors	ENST00000324229	ensembl	human	known	74_37	silent	24.72	67	22	SNP	0.435	T	T	15096643	C	T	15096643	2	4	106	1	0	0	0	0	0	0	0	1	2583	813	29	3		3	CALCB	11	15096643	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	598094	15096643	119909873	105	29329											
PRMT3	10196	genome.wustl.edu	37	chr11	20414545	20414545	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaccttttacttcaatttGgtaagatgaacataagtgta	14	15	7	5	0	1	3	1	2	0	1	1	3	1	3	1	1	2	2	1	1	6	7			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:20414545G>T	ENST00000331079.6	+	5	617	c.400G>T	c.(400-402)Gat>Tat	p.D134Y	PRMT3_ENST00000437750.2_Splice_Site_p.D72Y	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	134					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACTTCAATTTGGTAAGATGAA	0.353																																																	0													132	135	134					11																	20414545		2203	4299	6502	SO:0001630	splice_region_variant	0			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"Protein arginine methyltransferases"	30163	protein-coding gene	gene with protein product		603190	"HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.400+1G>T	11.37:g.20414545G>T			B4DUC7	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.D134Y	ENST00000331079.6	37	c.400	CCDS7853.1	11	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801077	0.90538	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.47528	0.84;0.84	5.65	5.65	0.86999	.	0.044811	0.85682	D	0.000000	T	0.70168	0.3193	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71265	-0.4644	10	0.72032	D	0.01	-22.1066	19.6715	0.95914	0.0:0.0:1.0:0.0	.	72;134	O60678-2;O60678	.;ANM3_HUMAN	Y	134;134;72	ENSP00000331879:D134Y;ENSP00000397766:D72Y	ENSP00000331879:D134Y	D	+	1	0	PRMT3	20371121	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.336000	0.90033	2.809000	0.96659	0.650000	0.86243	GAT	PRMT3	-	NULL	ENSG00000185238		0.353	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT3	HGNC	protein_coding	OTTHUMT00000387489.1	-	0	57	0	G	NM_005788	Missense_Mutation	20414545	1	tier1	-	no_errors	ENST00000331079	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T	T	20414545	G	T	20414545	5	4	106	1	0	0	0	0	0	0	1	0	12580	1362	47	3	418	3	PRMT3	11	20414545	Splice_Site	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	5317902	20414545	114591971	106	29330											
METT5D1	196074	genome.wustl.edu	37	chr11	28232685	28232685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtcagatattgttctctAtgccttggacagagacccaa	11	11	10	9	0	2	2	1	0	1	2	3	5	2	4	2	2	1	1	2	2	3	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:28232685A>G	ENST00000407364.3	+	4	699	c.347A>G	c.(346-348)tAt>tGt	p.Y116C	METTL15_ENST00000342303.5_Missense_Mutation_p.Y116C|METTL15_ENST00000406787.3_Missense_Mutation_p.Y116C|METTL15_ENST00000303459.6_Missense_Mutation_p.Y116C			A6NJ78	MET15_HUMAN	methyltransferase like 15	116							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						ATTGTTCTCTATGCCTTGGAC	0.378																																																	0													117	105	109					11																	28232685		2202	4296	6498	SO:0001583	missense	0			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"methyltransferase 5 domain containing 1"	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.347A>G	11.37:g.28232685A>G	ENSP00000384369:p.Tyr116Cys		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH	p.Y116C	ENST00000407364.3	37	c.347	CCDS44559.1	11	.	.	.	.	.	.	.	.	.	.	A	11.55	1.673226	0.29693	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000407364;ENST00000303459	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.52	4.37	0.52481	.	0.156358	0.44902	D	0.000402	T	0.53594	0.1806	M	0.81802	2.56	0.52099	D	0.999942	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.984;0.982;0.994	T	0.54050	-0.8351	9	.	.	.	.	9.0487	0.36363	0.7058:0.0:0.0:0.2942	.	116;116;116	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	C	116	ENSP00000385507:Y116C;ENSP00000342259:Y116C;ENSP00000384369:Y116C;ENSP00000307251:Y116C	.	Y	+	2	0	METTL15	28189261	1.000000	0.71417	0.182000	0.23118	0.115000	0.19883	2.415000	0.44635	0.892000	0.36259	0.377000	0.23210	TAT	METTL15	-	pfam_RsmH,tigrfam_RsmH	ENSG00000169519		0.378	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	METTL15	HGNC	protein_coding	OTTHUMT00000318135.2	-	0	105	0	A	NM_152636		28232685	1	tier1	-	no_errors	ENST00000303459	ensembl	human	known	74_37	missense	38.46	56	35	SNP	0.716	G	G	28232685	A	G	28232685	3	3	106	1	0	0	0	0	1	0	0	0	9530	449	16	4	353	4	METT5D1	11	28232685	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	7818140	28232685	106773831	107	29331											
AMBRA1	55626	genome.wustl.edu	37	chr11	46563784	46563784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccaagaggaactagcctCgccagaggagtagttaggtg	11	7	14	9	1	0	2	0	0	0	2	1	4	0	4	3	3	3	2	3	3	5	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:46563784C>T	ENST00000458649.2	-	7	2201	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	AMBRA1_ENST00000528950.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E595K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E505K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E505K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	595	Ser-rich.				autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAACTAGCCTCGCCAGAGGAG	0.587																																																	0													64	54	57					11																	46563784		2201	4299	6500	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1783G>A	11.37:g.46563784C>T	ENSP00000415327:p.Glu595Lys		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E595K	ENST00000458649.2	37	c.1783		11	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851959	0.51270	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.72394	-0.5;-0.65;-0.21;-0.34;-0.21;-0.36;-0.34	5.73	5.73	0.89815	.	0.221865	0.45126	D	0.000384	T	0.63640	0.2528	N	0.19112	0.55	0.35268	D	0.780179	P;P;P;P;D;P	0.62365	0.682;0.938;0.938;0.787;0.991;0.938	B;B;B;B;P;B	0.46320	0.097;0.164;0.212;0.14;0.512;0.164	T	0.75042	-0.3457	10	0.72032	D	0.01	.	17.3978	0.87451	0.0:1.0:0.0:0.0	.	595;595;595;505;505;505	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	K	505;505;595;595;595;505;595;595	ENSP00000318313:E505K;ENSP00000433372:E505K;ENSP00000431926:E595K;ENSP00000410899:E595K;ENSP00000298834:E595K;ENSP00000415327:E595K;ENSP00000433945:E595K	ENSP00000298834:E595K	E	-	1	0	AMBRA1	46520360	0.999000	0.42202	0.997000	0.53966	0.981000	0.71138	4.176000	0.58269	2.689000	0.91719	0.655000	0.94253	GAG	AMBRA1	-	NULL	ENSG00000110497		0.587	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	43	0	C	NM_017749		46563784	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	33.85	43	22	SNP	0.999	T	T	46563784	C	T	46563784	3	4	106	1	0	0	0	0	1	0	0	0	565	893	31	1	2161	1	AMBRA1	11	46563784	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	18331099	46563784	88442732	108	29332											
FOLH1	2346	genome.wustl.edu	37	chr11	49204779	49204779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagcctctgcaattccaCgcctataagcatattctgaa	13	10	5	13	1	2	1	0	1	2	0	3	1	3	1	3	0	4	2	3	0	6	5	rs116795343	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:49204779C>T	ENST00000256999.2	-	7	1102	c.842G>A	c.(841-843)cGt>cAt	p.R281H	FOLH1_ENST00000343844.4_De_novo_Start_OutOfFrame|FOLH1_ENST00000356696.3_Missense_Mutation_p.R281H|FOLH1_ENST00000340334.7_Missense_Mutation_p.R266H|FOLH1_ENST00000533034.1_Missense_Mutation_p.R266H	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	281	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.R281L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	TGCAATTCCACGCCTATAAGC	0.348																																																	1	Substitution - Missense(1)	lung(1)											72	73	73					11																	49204779		2201	4298	6499	SO:0001583	missense	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.842G>A	11.37:g.49204779C>T	ENSP00000256999:p.Arg281His		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.R281H	ENST00000256999.2	37	c.842	CCDS7946.1	11	.	.	.	.	.	.	.	.	.	.	C	2.929	-0.221410	0.06061	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	2.76	-1.12	0.09808	.	0.978445	0.08346	N	0.960084	T	0.21427	0.0516	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.23655	-1.0182	10	0.14656	T	0.56	.	6.6038	0.22714	0.0:0.3193:0.0:0.6807	.	266;266;281;281	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	H	281;281;266;266;281	ENSP00000256999:R281H;ENSP00000349129:R281H;ENSP00000344131:R266H;ENSP00000431463:R266H	ENSP00000256999:R281H	R	-	2	0	FOLH1	49161355	0.002000	0.14202	0.792000	0.32020	0.272000	0.26649	-0.922000	0.04004	-0.085000	0.12573	0.194000	0.17425	CGT	FOLH1	-	NULL	ENSG00000086205		0.348	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	62	0	C	NM_004476		49204779	-1	tier1	rs116795343	no_errors	ENST00000256999	ensembl	human	known	74_37	missense	6.41	72	5	SNP	0.843	T	T	49204779	C	T	49204779	3	4	106	1	0	0	0	0	1	0	0	0	6001	536	19	1	1462	1	FOLH1	11	49204779	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	2640995	49204779	85801737	109	29333			1	28		2	2	12	N	C_A	6.573486e-05
FOLH1	2346	genome.wustl.edu	37	chr11	49204790	49204790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattccacgcctataagcAtattctgaaaaaaaaaattg	18	10	5	8	1	1	1	0	1	1	0	2	1	2	1	2	0	1	2	2	0	9	6	rs76509850	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61	61	61					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	0			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"glutamate carboxylase II", "glutamate carboxypeptidase II"	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL	ENSG00000086205		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	-	0	47	0	A	NM_004476		49204790	-1	tier1	rs76509850	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	8.96	61	6	SNP	1.000	G	G	49204790	A	G	49204790	2	3	106	1	0	0	0	0	0	0	0	1	6001	224	8	4		4	FOLH1	11	49204790	Silent	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	11	49204790	85801726	110	29334			1	28		2	2	12	N	C_A	6.573486e-05
OR5T3	390154	genome.wustl.edu	37	chr11	56020398	56020398	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctattgagatagtcactatCctgattgtcctcatttcctg	8	17	6	10	0	3	2	2	2	1	1	6	3	6	2	3	0	0	0	3	0	3	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:56020398C>A	ENST00000303059.3	+	1	723	c.723C>A	c.(721-723)atC>atA	p.I241I		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TAGTCACTATCCTGATTGTCC	0.428																																																	0													254	230	238					11																	56020398		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"GPCR / Class A : Olfactory receptors"	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.723C>A	11.37:g.56020398C>A			Q6IFC7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I241	ENST00000303059.3	37	c.723	CCDS31524.1	11																																																																																			OR5T3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172489		0.428	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T3	HGNC	protein_coding	OTTHUMT00000391599.1	-	0	79	0	C	NM_001004747		56020398	1	tier1	-	no_errors	ENST00000303059	ensembl	human	known	74_37	silent	39.13	70	45	SNP	0.000	A	A	56020398	C	A	56020398	2	1	106	1	0	0	0	0	0	0	0	1	11222	845	30	3		3	OR5T3	11	56020398	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	6815608	56020398	78986118	111	29335											
SPDYC	387778	genome.wustl.edu	37	chr11	64938815	64938815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtcaccctgccccatctCcatctcctatgagatgagtg	8	10	8	15	0	3	2	1	2	2	1	5	3	3	2	5	1	1	0	5	1	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:64938815C>T	ENST00000377185.2	+	2	126	c.44C>T	c.(43-45)tCc>tTc	p.S15F	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TGCCCCATCTCCATCTCCTAT	0.592																																																	0													95	96	96					11																	64938815		2201	4297	6498	SO:0001583	missense	0			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"Speedy homologs"	32681	protein-coding gene	gene with protein product		614030	"speedy homolog C (Xenopus laevis)"			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.44C>T	11.37:g.64938815C>T	ENSP00000366390:p.Ser15Phe			Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.S15F	ENST00000377185.2	37	c.44	CCDS31606.1	11	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605582	0.28623	.	.	ENSG00000204710	ENST00000377185	.	.	.	3.95	2.07	0.26955	.	.	.	.	.	T	0.25680	0.0625	N	0.19112	0.55	0.09310	N	0.999993	B	0.11235	0.004	B	0.06405	0.002	T	0.19811	-1.0294	8	0.54805	T	0.06	.	5.6544	0.17635	0.0:0.7505:0.0:0.2495	.	15	Q5MJ68	SPDYC_HUMAN	F	15	.	ENSP00000366390:S15F	S	+	2	0	SPDYC	64695391	0.000000	0.05858	0.051000	0.19133	0.098000	0.18820	0.461000	0.21940	0.343000	0.23821	0.591000	0.81541	TCC	SPDYC	-	NULL	ENSG00000204710		0.592	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	-	0	30	0	C	NM_001008778		64938815	1	tier1	-	no_errors	ENST00000377185	ensembl	human	known	74_37	missense	58.14	18	25	SNP	0.353	T	T	64938815	C	T	64938815	3	4	106	1	0	0	0	0	1	0	0	0	15075	855	30	3	50	3	SPDYC	11	64938815	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	8918417	64938815	70067701	112	29336											
DYNC2H1	79659	genome.wustl.edu	37	chr11	103031724	103031724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaatgaaatctttagaggGagaagttgtaccttttaaaa	15	13	9	4	0	1	3	0	1	1	2	1	4	1	3	1	1	2	3	1	1	7	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:103031724G>T	ENST00000375735.2	+	29	4586	c.4442G>T	c.(4441-4443)gGa>gTa	p.G1481V	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1481V|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1481	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCTTTAGAGGGAGAAGTTGTA	0.264																																																	0													27	27	27					11																	103031724		1778	3992	5770	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4442G>T	11.37:g.103031724G>T	ENSP00000364887:p.Gly1481Val		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G1481V	ENST00000375735.2	37	c.4442	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097285	0.76870	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.66280	-0.2;-0.2	5.33	5.33	0.75918	Dynein heavy chain, domain-2 (1);	0.707303	0.11533	U	0.554536	D	0.84902	0.5575	M	0.92784	3.345	0.80722	D	1	D;D	0.71674	0.998;0.992	D;P	0.73380	0.98;0.875	D	0.85728	0.1329	10	0.72032	D	0.01	.	17.5433	0.87854	0.0:0.0:1.0:0.0	.	1481;1481	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	V	1481	ENSP00000364887:G1481V;ENSP00000381167:G1481V	ENSP00000364887:G1481V	G	+	2	0	DYNC2H1	102536934	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.683000	0.91236	2.652000	0.90054	0.467000	0.42956	GGA	DYNC2H1	-	pfam_Dynein_heavy_dom-2	ENSG00000187240		0.264	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0	68	0	G	XM_370652		103031724	1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	103031724	G	T	103031724	3	4	106	1	0	0	0	0	1	0	0	0	4860	1174	41	3	4556	3	DYNC2H1	11	103031724	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	38092909	103031724	31974792	113	29337											
IGSF9B	22997	genome.wustl.edu	37	chr11	133796853	133796853	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcactgaaggcgctggttcCcagcttgttctgggccagga	6	10	13	12	1	2	1	1	1	1	0	3	2	3	2	2	4	1	4	2	4	1	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr11:133796853C>A	ENST00000321016.8	-	13	1995	c.1765G>T	c.(1765-1767)Gga>Tga	p.G589*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.G589*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	589	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCGCTGGTTCCCAGCTTGTTC	0.647																																																	0													31	36	34					11																	133796853		2076	4205	6281	SO:0001587	stop_gained	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1765G>T	11.37:g.133796853C>A	ENSP00000317980:p.Gly589*		G5EA26	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G589*	ENST00000321016.8	37	c.1765		11	.	.	.	.	.	.	.	.	.	.	C	42	9.385210	0.99155	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	.	.	.	5.8	5.8	0.92144	.	0.000000	0.43416	D	0.000576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	.	.	.	X	589;431;589	.	ENSP00000317980:G589X	G	-	1	0	IGSF9B	133302063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.755000	0.94549	0.655000	0.94253	GGA	IGSF9B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080854		0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0	41	0	C	XM_290502		133796853	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	nonsense	36.76	43	25	SNP	1.000	A	A	133796853	C	A	133796853	4	1	106	1	0	0	0	0	0	1	0	0	7633	632	22	3	2312	3	IGSF9B	11	133796853	Nonsense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	30765129	133796853	1209663	114	29338											
MLL2	8085	genome.wustl.edu	37	chr12	49435976	49435976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcccagcgctgaagaCtccgctggttataggagagt	8	10	11	12	2	1	3	0	1	1	2	3	4	2	3	3	2	1	3	3	2	3	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr12:49435976C>A	ENST00000301067.7	-	28	6004	c.6005G>T	c.(6004-6006)aGt>aTt	p.S2002I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2002					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCGCTGAAGACTCCGCTGGTT	0.597																																																	0													40	43	42					12																	49435976		2084	4199	6283	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6005G>T	12.37:g.49435976C>A	ENSP00000301067:p.Ser2002Ile		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S2002I	ENST00000301067.7	37	c.6005	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725442	0.48833	.	.	ENSG00000167548	ENST00000301067	D	0.81996	-1.56	5.2	5.2	0.72013	.	0.000000	0.42964	D	0.000628	D	0.90356	0.6982	M	0.68317	2.08	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	D	0.91152	0.4954	10	0.87932	D	0	.	17.8762	0.88826	0.0:1.0:0.0:0.0	.	2002	O14686	MLL2_HUMAN	I	2002	ENSP00000301067:S2002I	ENSP00000301067:S2002I	S	-	2	0	MLL2	47722243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.964000	0.63701	2.606000	0.88127	0.561000	0.74099	AGT	KMT2D	-	NULL	ENSG00000167548		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0	26	0	C			49435976	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	missense	53.85	18	21	SNP	1.000	A	A	49435976	C	A	49435976	3	1	106	1	0	0	0	0	1	0	0	0	9659	565	20	3	10716	3	MLL2	12	49435976	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		49435976	84415919	115	29339											
BCDIN3D	144233	genome.wustl.edu	37	chr12	50236730	50236730	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctccgggggcaggaggcgGagccgttgctccggagggtg	5	5	21	10	4	0	0	0	0	0	0	2	3	2	3	3	7	3	4	3	7	0	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr12:50236730G>T	ENST00000333924.4	-	1	182	c.141C>A	c.(139-141)ctC>ctA	p.L47L	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	47					miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GCAGGAGGCGGAGCCGTTGCT	0.632																																																	0													56	67	63					12																	50236730		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.141C>A	12.37:g.50236730G>T			A8K829	Silent	SNP	pfam_Bin3	p.L47	ENST00000333924.4	37	c.141	CCDS8790.1	12	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359376	0.41801	.	.	ENSG00000186666	ENST00000550861	.	.	.	6.08	1.63	0.23807	.	.	.	.	.	T	0.42291	0.1196	.	.	.	0.24470	N	0.994397	.	.	.	.	.	.	T	0.37150	-0.9718	5	0.87932	D	0	.	7.5654	0.27876	0.2307:0.127:0.6423:0.0	.	.	.	.	Y	40	.	ENSP00000447796:S40Y	S	-	2	0	BCDIN3D	48522997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.118000	0.41949	0.427000	0.26145	0.591000	0.81541	TCC	BCDIN3D	-	NULL	ENSG00000186666		0.632	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCDIN3D	HGNC	protein_coding	OTTHUMT00000405982.1	-	0	33	0	G	NM_181708		50236730	-1	tier1	-	no_errors	ENST00000333924	ensembl	human	known	74_37	silent	35.90	25	14	SNP	0.998	T	T	50236730	G	T	50236730	2	4	106	1	0	0	0	0	0	0	0	1	1358	1161	41	3		3	BCDIN3D	12	50236730	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	800754	50236730	83615165	116	29340											
ANKS1B	56899	genome.wustl.edu	37	chr12	99640579	99640579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaggatccatggagcaggCctgcaaattgcccaggatca	12	6	13	10	0	1	1	1	0	0	1	2	5	2	4	3	4	3	2	3	4	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr12:99640579C>T	ENST00000547776.2	-	13	1819	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G607D|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G187D|ANKS1B_ENST00000550833.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	607						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATGGAGCAGGCCTGCAAATTG	0.453																																																	0													151	146	148					12																	99640579		1885	4098	5983	SO:0001583	missense	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1820G>A	12.37:g.99640579C>T	ENSP00000449629:p.Gly607Asp		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.G607D	ENST00000547776.2	37	c.1820	CCDS55872.1	12	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470256	0.84533	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702	T;D;T	0.89123	-1.14;-2.47;-1.14	5.62	5.62	0.85841	.	0.059325	0.64402	D	0.000003	D	0.93278	0.7858	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.97110	1.0;0.898	D	0.92141	0.5720	9	.	.	.	-7.3731	18.2041	0.89848	0.0:1.0:0.0:0.0	.	187;607	Q7Z6G8-6;Q7Z6G8	.;ANS1B_HUMAN	D	607;187;607;186	ENSP00000449629:G607D;ENSP00000448512:G187D;ENSP00000331381:G607D	.	G	-	2	0	ANKS1B	98164710	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	6.815000	0.75242	2.813000	0.96785	0.561000	0.74099	GGC	ANKS1B	-	NULL	ENSG00000185046		0.453	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3		0	18	0	C	NM_020140		99640579	-1			no_errors	ENST00000329257	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	99640579	C	T	99640579	3	4	106	1	0	0	0	0	1	0	0	0	689	739	26	3	2270	3	ANKS1B	12	99640579	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	49403849	99640579	34211316	117	29341											
TAOK3	51347	genome.wustl.edu	37	chr12	118693355	118693355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggcaatctctgggtccttCagcacccctttacgcatgat	7	12	8	14	2	2	1	1	1	1	0	5	1	3	1	3	2	2	3	3	2	2	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr12:118693355C>T	ENST00000392533.3	-	3	508	c.18G>A	c.(16-18)ctG>ctA	p.L6L	TAOK3_ENST00000419821.2_Silent_p.L6L	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	6					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGGGTCCTTCAGCACCCCTT	0.398																																																	0													135	135	135					12																	118693355		2203	4300	6503	SO:0001819	synonymous_variant	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.18G>A	12.37:g.118693355C>T			Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L6	ENST00000392533.3	37	c.18	CCDS9188.1	12																																																																																			TAOK3	-	NULL	ENSG00000135090		0.398	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	-	0	40	0	C	NM_016281		118693355	-1	tier1	-	no_errors	ENST00000392533	ensembl	human	known	74_37	silent	55.10	22	27	SNP	0.393	T	T	118693355	C	T	118693355	2	4	106	1	0	0	0	0	0	0	0	1	15596	813	29	3		3	TAOK3	12	118693355	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	19052776	118693355	15158540	118	29342											
EIF2B1	1967	genome.wustl.edu	37	chr12	124116905	124116905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatatacctttatctctcttCaagaactccagcaacgtccg	11	13	4	13	2	3	1	1	0	2	1	6	1	5	1	3	0	4	1	3	0	7	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr12:124116905C>G	ENST00000424014.2	-	2	310	c.102G>C	c.(100-102)ttG>ttC	p.L34F	EIF2B1_ENST00000537073.1_Missense_Mutation_p.L34F|EIF2B1_ENST00000543940.1_5'UTR|EIF2B1_ENST00000539951.1_Missense_Mutation_p.L21F|GTF2H3_ENST00000228955.7_5'Flank|GTF2H3_ENST00000543341.2_5'Flank	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	34					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TATCTCTCTTCAAGAACTCCA	0.388																																																	0													107	122	117					12																	124116905		2203	4300	6503	SO:0001583	missense	0			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.102G>C	12.37:g.124116905C>G	ENSP00000416250:p.Leu34Phe		A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	pfam_IF-2B-related	p.L34F	ENST00000424014.2	37	c.102	CCDS31924.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.237776|3.237776	0.58886|0.58886	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073|ENST00000534960	D;D;D;D|.	0.93076|.	-3.16;-3.16;-3.16;-3.16|.	5.38|5.38	0.697|0.697	0.18081|0.18081	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76062|.	0.3935|.	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	P;P;B|.	0.40553|.	0.721;0.454;0.25|.	P;B;B|.	0.47470|.	0.548;0.21;0.252|.	T|.	0.75172|.	-0.3411|.	10|.	0.62326|.	D|.	0.03|.	-14.3012|-14.3012	7.6581|7.6581	0.28388|0.28388	0.0:0.5324:0.2356:0.232|0.0:0.5324:0.2356:0.232	.|.	34;21;34|.	B4DGX0;F5H0D0;Q14232|.	.;.;EI2BA_HUMAN|.	F|S	34;34;21;34|50	ENSP00000416250:L34F;ENSP00000228958:L34F;ENSP00000438060:L21F;ENSP00000444183:L34F|.	ENSP00000228958:L34F|.	L|X	-|-	3|2	2|2	EIF2B1|EIF2B1	122682858|122682858	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.919000|0.919000	0.55068|0.55068	0.320000|0.320000	0.19540|0.19540	0.210000|0.210000	0.20664|0.20664	0.557000|0.557000	0.71058|0.71058	TTG|TGA	EIF2B1	-	pfam_IF-2B-related	ENSG00000111361		0.388	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B1	HGNC	protein_coding	OTTHUMT00000400628.1	-	0	45	0	C	NM_001414		124116905	-1	tier1	-	no_errors	ENST00000424014	ensembl	human	known	74_37	missense	38.64	27	17	SNP	0.993	G	G	124116905	C	G	124116905	3	3	106	1	0	0	0	0	1	0	0	0	5014	825	29	5	847	5	EIF2B1	12	124116905	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	5423550	124116905	9734990	119	29343											
TMEM132D	121256	genome.wustl.edu	37	chr12	130184990	130184991	+	Missense_Mutation	DNP	CA	CA	AC																															ccaaatgggttggaaggtagCattaaatcctggggcaccac																										TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr12:130184990_130184991CA>AC	ENST00000422113.2	-	2	658_659	c.332_333TG>GT	c.(331-333)aTG>aGT	p.M111S	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	111					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGAAGGTAGCATTAAATCCTG	0.5																																																	0																																										SO:0001583	missense	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 153"	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.332_333delinsAC	12.37:g.130184990_130184991delinsAC	ENSP00000408581:p.Met111Ser		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.M111I|p.M111R	ENST00000422113.2	37	c.333|c.332	CCDS9266.1	12																																																																																			TMEM132D	-	NULL	ENSG00000151952		0.5	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	-	0	45	0	C|A	NM_133448		130184990|130184991	-1	tier1	-	no_errors	ENST00000422113	ensembl	human	known	74_37	missense	40.82|42.00	29	20|21	SNP	0.976|0.977	A|C	AC	130184991	CA	AC	130184990	3	1	106	1	0	0	0	0	1	0	0	0	16094	710	25	3	2998	3	TMEM132D	12	130184990	Missense_Mutation	DNP	CA	TCGA-LN-A49U-01A-31D-A27G-09	6068085	130184990	3666905	120	29344											
RIMBP2	23504	genome.wustl.edu	37	chr12	130921539	130921539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctccagcatgtgcccatGcacagggccaggtgcacggc	7	5	14	15	2	0	0	0	0	0	0	1	0	1	0	3	4	4	4	3	4	0	0	rs143584336	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr12:130921539G>T	ENST00000261655.4	-	10	2066	c.1903C>A	c.(1903-1905)Cat>Aat	p.H635N	RIMBP2_ENST00000536002.1_Missense_Mutation_p.H543N|RIMBP2_ENST00000535703.1_Missense_Mutation_p.H543N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	635	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATGTGCCCATGCACAGGGCCA	0.677													G|||	4	0.000798722	0	0.0014	5008	,	,		12653	0		0.002	False		,,,				2504	0.001																0								G	ASN/HIS	1,4401	2.1+/-5.4	0,1,2200	51	47	49		1903	4.6	0.2	12	dbSNP_134	49	5,8595	4.3+/-15.6	0,5,4295	yes	missense	RIMBP2	NM_015347.4	68	0,6,6495	TT,TG,GG		0.0581,0.0227,0.0461	probably-damaging	635/1053	130921539	6,12996	2201	4300	6501	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 133"	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1903C>A	12.37:g.130921539G>T	ENSP00000261655:p.His635Asn		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.H635N	ENST00000261655.4	37	c.1903	CCDS31925.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	9.955	1.221122	0.22457	2.27E-4	5.81E-4	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19105	2.17;2.91;2.91	4.63	4.63	0.57726	.	0.791350	0.11738	N	0.534288	T	0.21347	0.0514	L	0.56769	1.78	0.33499	D	0.589722	P;P;P	0.43094	0.651;0.799;0.534	B;B;B	0.33454	0.057;0.164;0.107	T	0.36817	-0.9732	10	0.17832	T	0.49	-9.9813	17.4987	0.87725	0.0:0.0:1.0:0.0	.	543;543;635	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	N	635;543;543;543	ENSP00000261655:H635N;ENSP00000440347:H543N;ENSP00000439159:H543N	ENSP00000261655:H635N	H	-	1	0	RIMBP2	129487492	1.000000	0.71417	0.211000	0.23655	0.189000	0.23516	6.254000	0.72460	2.121000	0.65114	0.561000	0.74099	CAT	RIMBP2	-	NULL	ENSG00000060709		0.677	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1		0	36	0	G	NM_015347		130921539	-1			no_errors	ENST00000261655	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.857	T	T	130921539	G	T	130921539	3	4	106	1	0	0	0	0	1	0	0	0	13408	1319	46	3	1295	3	RIMBP2	12	130921539	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	736549	130921539	2930356	121	29345											
TUBA3C	7278	genome.wustl.edu	37	chr13	19748259	19748259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcaccttggccaggtctCccccagggaccaccgtgggg	5	6	14	16	1	1	0	0	0	1	0	2	1	1	1	6	5	1	2	6	5	0	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr13:19748259C>A	ENST00000400113.3	-	5	1201	c.1097G>T	c.(1096-1098)gGa>gTa	p.G366V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	366					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCCAGGTCTCCCCCAGGGAC	0.582																																																	0													54	52	53					13																	19748259		2203	4300	6503	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1097G>T	13.37:g.19748259C>A	ENSP00000382982:p.Gly366Val		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.G366V	ENST00000400113.3	37	c.1097	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	c	9.798	1.179803	0.21787	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.81415	-1.49	1.22	1.22	0.21188	.	0.000000	0.47455	U	0.000239	D	0.82416	0.5032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82273	-0.0539	7	0.87932	D	0	.	8.3643	0.32378	0.0:1.0:0.0:0.0	.	.	.	.	V	366	ENSP00000382982:G366V	ENSP00000354037:G366V	G	-	2	0	TUBA3C	18646259	0.998000	0.40836	0.871000	0.34182	0.367000	0.29736	6.342000	0.72982	0.982000	0.38575	0.194000	0.17425	GGA	TUBA3C	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000198033		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	-	0	76	0	C	NM_006001		19748259	-1	tier1	-	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	64.79	25	46	SNP	1.000	A	A	19748259	C	A	19748259	3	1	106	1	0	0	0	0	1	0	0	0	16795	855	30	3	259	3	TUBA3C	13	19748259	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		19748259	95421619	122	29346											
FLT1	2321	genome.wustl.edu	37	chr13	28880885	28880885	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgggagaggccaacaGagtgctgctgtcgccctggt	8	7	15	11	1	0	2	0	0	0	2	1	3	0	2	2	3	4	3	2	3	1	0	rs61226903		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr13:28880885G>T	ENST00000282397.4	-	29	3996	c.3745C>A	c.(3745-3747)Ctg>Atg	p.L1249M	FLT1_ENST00000540678.1_Missense_Mutation_p.L467M|FLT1_ENST00000543394.1_Missense_Mutation_p.L272M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1249					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.L1249M(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGGCCAACAGAGTGCTGCTG	0.552																																																	1	Substitution - Missense(1)	lung(1)											91	83	86					13																	28880885		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3745C>A	13.37:g.28880885G>T	ENSP00000282397:p.Leu1249Met		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.L1249M	ENST00000282397.4	37	c.3745	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	10.08	1.253530	0.22965	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.78246	-0.93;-1.13;-1.16	5.23	3.3	0.37823	.	0.161309	0.39615	N	0.001305	T	0.69833	0.3155	L	0.38175	1.15	0.80722	D	1	P	0.46395	0.877	B	0.42462	0.388	T	0.73987	-0.3809	10	0.72032	D	0.01	.	12.729	0.57187	0.0:0.5082:0.4918:0.0	.	1249	P17948	VGFR1_HUMAN	M	1249;272;467	ENSP00000282397:L1249M;ENSP00000437841:L272M;ENSP00000443311:L467M	ENSP00000282397:L1249M	L	-	1	2	FLT1	27778885	0.995000	0.38212	0.757000	0.31301	0.261000	0.26267	2.921000	0.48852	1.293000	0.44690	0.650000	0.86243	CTG	FLT1	-	NULL	ENSG00000102755		0.552	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1		0	57	0	G			28880885	-1			no_errors	ENST00000282397	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.791	T	T	28880885	G	T	28880885	3	4	106	1	0	0	0	0	1	0	0	0	5963	933	33	3	279	3	FLT1	13	28880885	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	9132626	28880885	86288993	123	29347											
FLT1	2321	genome.wustl.edu	37	chr13	28908259	28908259	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagcccctcttccaagTgatttgcctgtaatgaagag	12	10	8	11	0	1	3	0	2	1	1	2	3	2	3	5	0	2	1	5	0	5	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr13:28908259T>G	ENST00000282397.4	-	18	2747	c.2496A>C	c.(2494-2496)tcA>tcC	p.S832S	FLT1_ENST00000540678.1_Silent_p.S50S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	832	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCTTCCAAGTGATTTGCCTG	0.438																																																	0													151	142	145					13																	28908259		2203	4300	6503	SO:0001819	synonymous_variant	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2496A>C	13.37:g.28908259T>G			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.S832	ENST00000282397.4	37	c.2496	CCDS9330.1	13																																																																																			FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102755		0.438	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0	18	0	T			28908259	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	silent	80.95	4	17	SNP	0.005	G	G	28908259	T	G	28908259	2	3	106	1	0	0	0	0	0	0	0	1	5963	1683	59	4		4	FLT1	13	28908259	Silent	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	27374	28908259	86261619	124	29348											
EBPL	84650	genome.wustl.edu	37	chr13	50235138	50235138	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaactggtttctttcTgatgcattttcttgagttct	6	20	7	8	0	5	3	1	3	4	0	5	3	5	3	0	1	2	3	0	1	1	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr13:50235138T>A	ENST00000242827.6	-	4	637	c.587A>T	c.(586-588)cAg>cTg	p.Q196L	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	196					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.Q196P(2)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383																																					NSCLC(39;857 1083 36109 42364 51411)												2	Substitution - Missense(2)	endometrium(2)											73	73	73					13																	50235138		2203	4300	6503	SO:0001583	missense	0			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.587A>T	13.37:g.50235138T>A	ENSP00000242827:p.Gln196Leu		A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	pfam_EBP	p.Q196L	ENST00000242827.6	37	c.587	CCDS9420.1	13	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886795	0.33348	.	.	ENSG00000123179	ENST00000242827	D	0.97994	-4.65	5.61	-2.45	0.06481	.	1.466260	0.03646	N	0.240220	D	0.93543	0.7939	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	D	0.86645	0.1894	10	0.29301	T	0.29	-0.1548	6.1064	0.20075	0.3657:0.0:0.2518:0.3825	.	196	Q9BY08	EBPL_HUMAN	L	196	ENSP00000242827:Q196L	ENSP00000242827:Q196L	Q	-	2	0	EBPL	49133139	0.002000	0.14202	0.003000	0.11579	0.996000	0.88848	-0.059000	0.11731	-0.151000	0.11176	0.528000	0.53228	CAG	EBPL	-	pfam_EBP	ENSG00000123179		0.383	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EBPL	HGNC	protein_coding	OTTHUMT00000044932.2		0	18	0	T	NM_032565		50235138	-1			no_errors	ENST00000242827	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.002	A	A	50235138	T	A	50235138	3	1	106	1	0	0	0	0	1	0	0	0	4901	1580	55	5	37	5	EBPL	13	50235138	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	21326879	50235138	64934740	125	29349											
DIS3	22894	genome.wustl.edu	37	chr13	73345944	73345944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacatttaccttttcacaaaGatacacagttgttcctcttc	11	16	3	11	0	2	1	1	0	1	1	4	1	3	1	2	0	3	2	2	0	4	9			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr13:73345944G>A	ENST00000377767.4	-	11	1694	c.1594C>T	c.(1594-1596)Ctt>Ttt	p.L532F	DIS3_ENST00000377780.4_Missense_Mutation_p.L502F|DIS3_ENST00000545453.1_Missense_Mutation_p.L370F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	532					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTTTCACAAAGATACACAGTT	0.343										Multiple Myeloma(4;0.011)																																							0													82	82	82					13																	73345944		2203	4300	6503	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1594C>T	13.37:g.73345944G>A	ENSP00000366997:p.Leu532Phe		A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	smart_PIN_dom	p.L532F	ENST00000377767.4	37	c.1594	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	G	19.78	3.890400	0.72524	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.58210	0.35;0.35;0.35	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	L	0.60067	1.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.70324	-0.4903	10	0.87932	D	0	.	14.1644	0.65466	0.0713:0.0:0.9287:0.0	.	502;532	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	F	532;502;370	ENSP00000366997:L532F;ENSP00000367011:L502F;ENSP00000440058:L370F	ENSP00000366997:L532F	L	-	1	0	DIS3	72243945	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.457000	0.66672	2.724000	0.93272	0.462000	0.41574	CTT	DIS3	-	NULL	ENSG00000083520		0.343	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	HGNC	protein_coding	OTTHUMT00000045250.2	-	0	31	0	G	NM_014953		73345944	-1	tier1	-	no_errors	ENST00000377767	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A	A	73345944	G	A	73345944	3	1	106	1	0	0	0	0	1	0	0	0	4549	942	33	3	1326	3	DIS3	13	73345944	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	23110806	73345944	41823934	126	29350											
CARS2	79587	genome.wustl.edu	37	chr13	111298382	111298382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggcatcaaccaccctggGtgtgtcaaaatcatctgcca	11	9	9	12	0	4	0	3	0	1	0	4	1	4	0	3	2	2	1	3	2	3	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr13:111298382G>T	ENST00000257347.4	-	12	1312	c.1249C>A	c.(1249-1251)Ccc>Acc	p.P417T	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	417					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	ACCACCCTGGGTGTGTCAAAA	0.602																																																	0													157	136	143					13																	111298382		2203	4300	6503	SO:0001583	missense	0			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"Aminoacyl tRNA synthetases / Class I"	25695	protein-coding gene	gene with protein product	"cysteine tRNA ligase 2, mitochondrial (putative)"	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1249C>A	13.37:g.111298382G>T	ENSP00000257347:p.Pro417Thr		Q8NI84|Q96IV4	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.P417T	ENST00000257347.4	37	c.1249	CCDS9514.1	13	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694938	0.30052	.	.	ENSG00000134905	ENST00000542993;ENST00000257347	T	0.52754	0.65	4.8	3.03	0.35002	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.377592	0.29383	N	0.012314	T	0.51890	0.1701	M	0.71581	2.175	0.09310	N	0.999998	B	0.34241	0.444	B	0.43867	0.434	T	0.50709	-0.8796	10	0.66056	D	0.02	-18.0922	7.4157	0.27042	0.1595:0.1399:0.7006:0.0	.	417	Q9HA77	SYCM_HUMAN	T	155;417	ENSP00000257347:P417T	ENSP00000257347:P417T	P	-	1	0	CARS2	110096383	0.985000	0.35326	0.010000	0.14722	0.266000	0.26442	2.693000	0.47027	0.432000	0.26286	0.462000	0.41574	CCC	CARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase	ENSG00000134905		0.602	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	HGNC	protein_coding	OTTHUMT00000045772.3		0	46	0	G	NM_024537		111298382	-1			no_errors	ENST00000257347	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.115	T	T	111298382	G	T	111298382	3	4	106	1	0	0	0	0	1	0	0	0	2665	1261	44	3	461	3	CARS2	13	111298382	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	37952438	111298382	3871496	127	29351											
OR4K1	79544	genome.wustl.edu	37	chr14	20404131	20404131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttgcatggcccagatattCgttcttcacagttttgttgg	6	16	11	8	1	2	1	1	0	1	1	3	1	2	1	1	3	1	5	1	3	1	8			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr14:20404131C>T	ENST00000285600.4	+	1	365	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCCAGATATTCGTTCTTCACA	0.413																																																	0													146	145	145					14																	20404131		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"GPCR / Class A : Olfactory receptors"	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.306C>T	14.37:g.20404131C>T			B9EKV9|Q8NGD6|Q96R73	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F102	ENST00000285600.4	37	c.306	CCDS32025.1	14																																																																																			OR4K1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000155249		0.413	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K1	HGNC	protein_coding	OTTHUMT00000409881.1	-	0	48	0	C			20404131	1	tier1	-	no_errors	ENST00000285600	ensembl	human	known	74_37	silent	33.64	73	37	SNP	0.037	T	T	20404131	C	T	20404131	2	4	106	1	0	0	0	0	0	0	0	1	11106	883	31	1		1	OR4K1	14	20404131	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		20404131	86945409	128	29352											
NEDD8	4738	genome.wustl.edu	37	chr14	24687342	24687342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactccaaactcacatcTgcttgccactgtagatgagc	10	11	6	14	0	3	2	2	1	2	1	5	2	4	2	2	0	4	2	2	0	2	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr14:24687342T>C	ENST00000250495.5	-	3	332	c.146A>G	c.(145-147)cAg>cGg	p.Q49R	AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_5'Flank|NEDD8_ENST00000524927.1_Missense_Mutation_p.Q49R|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.Q49R|MDP1_ENST00000288087.7_5'Flank|MDP1_ENST00000532557.1_5'Flank	NM_006156.2	NP_006147.1	Q15843	NEDD8_HUMAN	neural precursor cell expressed, developmentally down-regulated 8	49					anatomical structure morphogenesis (GO:0009653)|cellular protein modification process (GO:0006464)|protein localization (GO:0008104)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to organic cyclic compound (GO:0014070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		AACTCACATCTGCTTGCCACT	0.517																																																	0													175	147	156					14																	24687342		2203	4300	6503	SO:0001583	missense	0			D23662	CCDS9621.1	14q11.2	2008-08-13			ENSG00000129559	ENSG00000129559			7732	protein-coding gene	gene with protein product		603171				9353319	Standard	NM_006156		Approved	Nedd-8		Q15843	OTTHUMG00000029325	ENST00000250495.5:c.146A>G	14.37:g.24687342T>C	ENSP00000250495:p.Gln49Arg		Q3SXN8|Q6LES6	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.Q49R	ENST00000250495.5	37	c.146	CCDS9621.1	14	.	.	.	.	.	.	.	.	.	.	T	32	5.136285	0.94517	.	.	ENSG00000255526;ENSG00000129559;ENSG00000129559	ENST00000534348;ENST00000250495;ENST00000524927	T;T;T	0.73363	-0.74;-0.74;-0.74	5.53	5.53	0.82687	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81850	-0.0743	10	0.87932	D	0	.	14.7802	0.69760	0.0:0.0:0.0:1.0	.	49	Q15843	NEDD8_HUMAN	R	49	ENSP00000431482:Q49R;ENSP00000250495:Q49R;ENSP00000448192:Q49R	ENSP00000250495:Q49R	Q	-	2	0	NEDD8-MDP1;NEDD8	23757182	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.604000	0.74150	2.324000	0.78689	0.533000	0.62120	CAG	NEDD8-MDP1	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	ENSG00000255526		0.517	NEDD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEDD8-MDP1	HGNC	protein_coding	OTTHUMT00000073146.2	-	0	27	0	T	NM_006156		24687342	-1	tier1	-	no_errors	ENST00000605847	ensembl	human	known	74_37	missense	79.03	13	49	SNP	1.000	C	C	24687342	T	C	24687342	3	2	106	1	0	0	0	0	1	0	0	0	10351	1580	55	4	107	4	NEDD8	14	24687342	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	4283211	24687342	82662198	129	29353											
KLHL28	54813	genome.wustl.edu	37	chr14	45400680	45400680	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacccacgccaaagtgaaTccttttatctgccatggatg	11	10	8	12	1	1	1	0	1	1	0	2	3	2	2	4	1	1	0	4	1	3	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr14:45400680T>A	ENST00000396128.4	-	4	1527	c.1408A>T	c.(1408-1410)Att>Ttt	p.I470F	KLHL28_ENST00000355081.2_Missense_Mutation_p.I484F	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	470								p.I470V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCAAAGTGAATCCTTTTATCT	0.403																																																	1	Substitution - Missense(1)	lung(1)											103	100	101					14																	45400680		2203	4300	6503	SO:0001583	missense	0			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"Kelch-like", "BTB/POZ domain containing"	19741	protein-coding gene	gene with protein product			"BTB (POZ) domain containing 5", "kelch-like 28 (Drosophila)"	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1408A>T	14.37:g.45400680T>A	ENSP00000379434:p.Ile470Phe		Q0VAL5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.I470F	ENST00000396128.4	37	c.1408	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	T	21.6	4.172398	0.78452	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.77489	-1.1;-1.1	4.72	4.72	0.59763	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	N	0.21508	0.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82520	-0.0416	10	0.56958	D	0.05	.	14.1529	0.65398	0.0:0.0:0.0:1.0	.	470	Q9NXS3	KLH28_HUMAN	F	470;484	ENSP00000379434:I470F;ENSP00000347193:I484F	ENSP00000347193:I484F	I	-	1	0	KLHL28	44470430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.620000	0.83070	1.881000	0.54492	0.460000	0.39030	ATT	KLHL28	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000179454		0.403	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3		0	35	0	T			45400680	-1			no_errors	ENST00000396128	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	45400680	T	A	45400680	3	1	106	1	0	0	0	0	1	0	0	0	8409	1435	50	5	315	5	KLHL28	14	45400680	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	20713338	45400680	61948860	130	29354											
IFI27	3429	genome.wustl.edu	37	chr14	94582128	94582128	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctcttccctgcagtTgtggctgtgcccatggtgct	3	13	11	14	0	1	0	0	0	1	0	3	0	3	0	3	2	4	5	3	2	0	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr14:94582128T>G	ENST00000555744.1	+	4	311	c.123T>G	c.(121-123)gtT>gtG	p.V41V	IFI27_ENST00000557098.1_5'UTR|IFI27_ENST00000444961.1_Splice_Site|IFI27_ENST00000448882.1_Splice_Site_p.I44M|IFI27_ENST00000298902.5_Splice_Site_p.V41V|IFI27_ENST00000557634.1_Splice_Site_p.V31V			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	41					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TCCCTGCAGTTGTGGCTGTGC	0.632																																					GBM(128;797 1667 20895 29868 47129)												0													14	13	14					14																	94582128		2182	4276	6458	SO:0001630	splice_region_variant	0			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	ENST00000555744.1:c.122-1T>G	14.37:g.94582128T>G			Q53YA6|Q6IEC1|Q96BK3	Splice_Site	SNP	-	e3-2	ENST00000555744.1	37	c.134-2	CCDS32148.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.020|0.020	-1.442570|-1.442570	0.01089|0.01089	.|.	.|.	ENSG00000165949|ENSG00000165949	ENST00000444961|ENST00000448882	.|T	.|0.33865	.|1.39	3.24|3.24	-6.48|-6.48	0.01896|0.01896	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27697	.|0.0681	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.35699	.|-0.9778	.|6	.|0.45353	.|T	.|0.12	.|.	6.6042|6.6042	0.22716|0.22716	0.0:0.1938:0.2509:0.5553|0.0:0.1938:0.2509:0.5553	.|.	.|.	.|.	.|.	.|M	-1|44	.|ENSP00000410901:I44M	.|ENSP00000410901:I44M	.|I	+|+	.|3	.|3	IFI27|IFI27	93651881|93651881	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-1.255000|-1.255000	0.02872|0.02872	-2.000000|-2.000000	0.00965|0.00965	-1.525000|-1.525000	0.00928|0.00928	.|ATT	IFI27	-	-	ENSG00000165949		0.632	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFI27	HGNC	protein_coding	OTTHUMT00000412889.1		0	53	0	T	NM_005532	Silent	94582128	1			no_errors	ENST00000444961	ensembl	human	known	74_37	splice_site	7.94	58	5	SNP	0.000	G	G	94582128	T	G	94582128	5	3	106	1	0	0	0	0	0	0	1	0	7539	1826	63	4	133	4	IFI27	14	94582128	Splice_Site	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	49181448	94582128	12767412	131	29355											
KIF26A	26153	genome.wustl.edu	37	chr14	104640529	104640529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgaatccctggccaccgCtggctgccgcaccaccatga	7	6	11	17	3	0	2	0	2	0	0	1	2	1	2	6	2	1	3	6	2	1	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr14:104640529C>T	ENST00000423312.2	+	11	2075	c.2075C>T	c.(2074-2076)gCt>gTt	p.A692V	KIF26A_ENST00000315264.7_Missense_Mutation_p.A553V	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	692	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGCCACCGCTGGCTGCCGC	0.682																																																	0													16	23	21					14																	104640529		2165	4255	6420	SO:0001583	missense	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"Kinesins"	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2075C>T	14.37:g.104640529C>T	ENSP00000388241:p.Ala692Val		Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.A692V	ENST00000423312.2	37	c.2075	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	3.371	-0.128450	0.06753	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.77489	-1.1;-1.1	3.98	-1.12	0.09808	Kinesin, motor domain (4);	.	.	.	.	T	0.43299	0.1241	N	0.02916	-0.46	0.21325	N	0.999725	B	0.14805	0.011	B	0.16289	0.015	T	0.32955	-0.9887	9	0.08837	T	0.75	.	0.4196	0.00454	0.1956:0.2001:0.1967:0.4075	.	692	Q9ULI4	KI26A_HUMAN	V	692;553	ENSP00000388241:A692V;ENSP00000325452:A553V	ENSP00000325452:A553V	A	+	2	0	KIF26A	103710282	1.000000	0.71417	0.000000	0.03702	0.311000	0.27955	3.131000	0.50515	-0.047000	0.13423	0.313000	0.20887	GCT	KIF26A	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000066735		0.682	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	-	0	84	0	C			104640529	1	tier1	-	no_errors	ENST00000423312	ensembl	human	known	74_37	missense	77.46	32	110	SNP	0.992	T	T	104640529	C	T	104640529	3	4	106	1	0	0	0	0	1	0	0	0	8321	797	28	3	2117	3	KIF26A	14	104640529	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	10058401	104640529	2709011	132	29356											
MEGF11	84465	genome.wustl.edu	37	chr15	66249960	66249960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgacaggtgcaaggcagCtggcagccatcgccatagta	10	8	12	11	1	1	1	0	1	1	0	2	1	1	1	2	3	3	5	2	3	3	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr15:66249960C>T	ENST00000409699.2	-	10	1384	c.1212G>A	c.(1210-1212)caG>caA	p.Q404Q	MEGF11_ENST00000288745.3_Silent_p.Q329Q|MEGF11_ENST00000422354.1_Silent_p.Q404Q|MEGF11_ENST00000395625.2_Silent_p.Q329Q|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Silent_p.Q404Q			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	404	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAAGGCAGCTGGCAGCCAT	0.617																																																	0													51	42	45					15																	66249960		2201	4299	6500	SO:0001819	synonymous_variant	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1212G>A	15.37:g.66249960C>T			Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.Q404	ENST00000409699.2	37	c.1212	CCDS10213.2	15																																																																																			MEGF11	-	smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	ENSG00000157890		0.617	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2		0	44	0	C	NM_032445		66249960	-1			no_errors	ENST00000409699	ensembl	human	known	74_37	silent	5.45	52	3	SNP	1.000	T	T	66249960	C	T	66249960	2	4	106	1	0	0	0	0	0	0	0	1	9499	796	28	3		3	MEGF11	15	66249960	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09		66249960	36281432	133	29357											
DIS3L	115752	genome.wustl.edu	37	chr15	66615878	66615878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgctatgacatgctgccttCcgtcctcagtgcagatttgt	6	14	9	12	2	1	2	1	1	0	1	4	2	3	2	3	0	3	3	3	0	1	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr15:66615878C>G	ENST00000319212.4	+	11	1672	c.1622C>G	c.(1621-1623)tCc>tGc	p.S541C	DIS3L_ENST00000441424.2_3'UTR|DIS3L_ENST00000319194.5_Missense_Mutation_p.S458C|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	541					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGCTGCCTTCCGTCCTCAGT	0.517																																																	0													354	278	304					15																	66615878		2201	4299	6500	SO:0001583	missense	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"DIS3 mitotic control homolog (S. cerevisiae)-like"			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1622C>G	15.37:g.66615878C>G	ENSP00000321711:p.Ser541Cys		Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	NULL	p.S541C	ENST00000319212.4	37	c.1622	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539864	0.65085	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.36878	1.23;1.23	5.74	5.74	0.90152	Ribonuclease II/R (2);	0.373004	0.33875	N	0.004471	T	0.48995	0.1531	M	0.67569	2.06	0.80722	D	1	P;P;P	0.47677	0.899;0.877;0.877	P;P;P	0.52646	0.705;0.58;0.698	T	0.47749	-0.9093	10	0.56958	D	0.05	-6.9813	12.2599	0.54645	0.0:0.9232:0.0:0.0768	.	541;407;541	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	C	458;541	ENSP00000321583:S458C;ENSP00000321711:S541C	ENSP00000321583:S458C	S	+	2	0	DIS3L	64402932	0.653000	0.27358	0.831000	0.32960	0.272000	0.26649	5.928000	0.70088	2.715000	0.92844	0.655000	0.94253	TCC	DIS3L	-	NULL	ENSG00000166938		0.517	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	-	0	56	0	C	NM_133375		66615878	1	tier1	-	no_errors	ENST00000319212	ensembl	human	known	74_37	missense	40.70	51	35	SNP	0.985	G	G	66615878	C	G	66615878	3	3	106	1	0	0	0	0	1	0	0	0	4550	855	30	5	1664	5	DIS3L	15	66615878	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	365918	66615878	35915514	134	29358											
AKAP13	11214	genome.wustl.edu	37	chr15	86262365	86262365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatcatgagtggtgtgtaCagccaggggatgatggcgga	11	8	17	5	1	1	3	1	2	0	1	1	5	1	5	1	5	2	1	1	5	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr15:86262365C>T	ENST00000394518.2	+	23	6155	c.6060C>T	c.(6058-6060)taC>taT	p.Y2020Y	AKAP13_ENST00000394510.2_Silent_p.Y265Y|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.Y2024Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2020	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GTGGTGTGTACAGCCAGGGGA	0.453																																					Melanoma(94;603 1453 3280 32295 32951)												0													133	115	121					15																	86262365		2202	4299	6501	SO:0001819	synonymous_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6060C>T	15.37:g.86262365C>T			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.Y2024	ENST00000394518.2	37	c.6072	CCDS32319.1	15																																																																																			AKAP13	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000170776		0.453	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	-	0	55	0	C	NM_007200		86262365	1	tier1	-	no_errors	ENST00000361243	ensembl	human	known	74_37	silent	43.28	38	29	SNP	1.000	T	T	86262365	C	T	86262365	2	4	106	1	0	0	0	0	0	0	0	1	449	489	17	3		3	AKAP13	15	86262365	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	19646487	86262365	16269027	135	29359											
LUC7L	55692	genome.wustl.edu	37	chr16	239289	239289	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgggggccctcgctcgcTccgcccgctctcccaggact	2	7	12	20	5	1	0	0	0	1	0	6	1	3	1	5	3	0	3	5	3	0	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr16:239289T>A	ENST00000293872.8	-	10	1134	c.1024A>T	c.(1024-1026)Agc>Tgc	p.S342C	LA16c-OS12.2_ENST00000595428.1_lincRNA|LUC7L_ENST00000397783.1_3'UTR|LUC7L_ENST00000337351.4_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	342	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CCTCGCTCGCTCCGCCCGCTC	0.642																																																	0													47	54	51					16																	239289		2203	4300	6503	SO:0001583	missense	0			AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"LUC7 (S. cerevisiae)-like"				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.1024A>T	16.37:g.239289T>A	ENSP00000293872:p.Ser342Cys		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	pfam_Luc7-rel	p.S342C	ENST00000293872.8	37	c.1024	CCDS32348.1	16	.	.	.	.	.	.	.	.	.	.	T	10.32	1.317925	0.23994	.	.	ENSG00000007392	ENST00000293872;ENST00000429378	T	0.48201	0.82	5.1	4.01	0.46588	.	0.294605	0.37393	N	0.002114	T	0.30885	0.0779	N	0.14661	0.345	0.80722	D	1	B	0.28512	0.214	B	0.30105	0.111	T	0.13045	-1.0524	10	0.66056	D	0.02	.	9.6967	0.40161	0.0:0.0814:0.0:0.9186	.	342	Q9NQ29	LUC7L_HUMAN	C	342;141	ENSP00000413033:S141C	ENSP00000293872:S342C	S	-	1	0	LUC7L	179290	0.801000	0.28930	0.800000	0.32199	0.927000	0.56198	2.262000	0.43285	0.801000	0.34066	0.533000	0.62120	AGC	LUC7L	-	NULL	ENSG00000007392		0.642	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L	HGNC	protein_coding	OTTHUMT00000134239.1	-	0	56	0	T			239289	-1	tier1	-	no_errors	ENST00000293872	ensembl	human	known	74_37	missense	51.67	29	31	SNP	0.911	A	A	239289	T	A	239289	3	1	106	1	0	0	0	0	1	0	0	0	9117	1551	54	5	95	5	LUC7L	16	239289	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09		239289	90115464	136	29360											
ANKS3	124401	genome.wustl.edu	37	chr16	4777008	4777008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagtaggcgatgctctcgTtgccacagctggaggccagc	9	7	14	11	2	1	0	0	0	1	0	2	3	1	1	2	3	4	4	2	3	2	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr16:4777008T>C	ENST00000304283.4	-	4	635	c.341A>G	c.(340-342)aAc>aGc	p.N114S	ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Missense_Mutation_p.N41S|ANKS3_ENST00000592711.1_Intron|ANKS3_ENST00000450067.2_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	114										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GATGCTCTCGTTGCCACAGCT	0.607																																																	0													102	91	95					16																	4777008		2197	4300	6497	SO:0001583	missense	0			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.341A>G	16.37:g.4777008T>C	ENSP00000304586:p.Asn114Ser		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.N114S	ENST00000304283.4	37	c.341	CCDS10520.1	16	.	.	.	.	.	.	.	.	.	.	T	26.4	4.738223	0.89573	.	.	ENSG00000168096	ENST00000304283	T	0.65732	-0.17	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73257	-0.4040	10	0.66056	D	0.02	0.3597	15.1327	0.72536	0.0:0.0:0.0:1.0	.	114	Q6ZW76	ANKS3_HUMAN	S	114	ENSP00000304586:N114S	ENSP00000304586:N114S	N	-	2	0	ANKS3	4717009	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.178000	0.69098	0.528000	0.53228	AAC	ANKS3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000168096		0.607	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0	27	0	T	NM_133450		4777008	-1	tier1	-	no_errors	ENST00000304283	ensembl	human	known	74_37	missense	37.21	27	16	SNP	1.000	C	C	4777008	T	C	4777008	3	2	106	1	0	0	0	0	1	0	0	0	690	1725	60	4	1685	4	ANKS3	16	4777008	Missense_Mutation	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	4537719	4777008	85577745	137	29361											
MYH11	4629	genome.wustl.edu	37	chr16	15854505	15854505	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcccatgaggtggcaaacTttctgagcagctggatggag	10	10	13	8	0	1	2	0	2	1	0	2	4	2	4	1	4	3	3	1	4	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr16:15854505T>C	ENST00000300036.5	-	11	1249	c.1140A>G	c.(1138-1140)aaA>aaG	p.K380K	MYH11_ENST00000576790.2_Silent_p.K380K|MYH11_ENST00000396324.3_Silent_p.K387K|MYH11_ENST00000452625.2_Silent_p.K387K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	380	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTGGCAAACTTTCTGAGCAG	0.443			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"myosin, heavy polypeptide 11, smooth muscle"		L	0													237	197	210					16																	15854505		2197	4300	6497	SO:0001819	synonymous_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"Myosins / Myosin superfamily : Class II"	7569	protein-coding gene	gene with protein product		160745	"myosin, heavy polypeptide 11, smooth muscle"			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1140A>G	16.37:g.15854505T>C			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K387	ENST00000300036.5	37	c.1161	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133392		0.443	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	-	0	106	0	T	NM_001040113		15854505	-1	tier1	-	no_errors	ENST00000396324	ensembl	human	known	74_37	silent	37.59	83	50	SNP	1.000	C	C	15854505	T	C	15854505	2	2	106	1	0	0	0	0	0	0	0	1	10069	1606	56	4		4	MYH11	16	15854505	Silent	SNP	T	TCGA-LN-A49U-01A-31D-A27G-09	11077497	15854505	74500248	138	29362											
SRCAP	10847	genome.wustl.edu	37	chr16	30734343	30734343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtagtgagacaagcccctCgggatggactgactcctgtt	8	11	12	10	1	0	2	0	2	0	1	2	5	1	4	3	2	1	2	3	2	2	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr16:30734343C>T	ENST00000262518.4	+	24	4337	c.3952C>T	c.(3952-3954)Cgg>Tgg	p.R1318W	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1256W|SRCAP_ENST00000344771.4_Missense_Mutation_p.R1160W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1318	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAAGCCCCTCGGGATGGACT	0.557																																																	0													98	97	97					16																	30734343		2197	4300	6497	SO:0001583	missense	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"Swi2/Snf2-related ATPase homolog (S. cerevisiae)", "domino homolog 1 (Drosophila)"	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3952C>T	16.37:g.30734343C>T	ENSP00000262518:p.Arg1318Trp		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R1318W	ENST00000262518.4	37	c.3952	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194598	0.38806	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92149	-2.98;-2.86;-2.85	5.83	3.68	0.42216	.	0.000000	0.50627	D	0.000111	D	0.91851	0.7421	N	0.19112	0.55	0.23506	N	0.997534	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.967;0.967;0.928	D	0.86155	0.1590	10	0.87932	D	0	-14.675	14.0034	0.64446	0.2855:0.7145:0.0:0.0	.	1160;1256;1318	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	W	1318;1256;1160	ENSP00000262518:R1318W;ENSP00000378499:R1256W;ENSP00000343042:R1160W	ENSP00000262518:R1318W	R	+	1	2	SRCAP	30641844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.209000	0.42806	1.454000	0.47793	0.655000	0.94253	CGG	SRCAP	-	NULL	ENSG00000080603		0.557	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	-	0	46	0	C	NM_006662		30734343	1	tier1	-	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	21.33	59	16	SNP	1.000	T	T	30734343	C	T	30734343	3	4	106	1	0	0	0	0	1	0	0	0	15182	875	31	1	4038	1	SRCAP	16	30734343	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	14879838	30734343	59620410	139	29363											
SALL1	6299	genome.wustl.edu	37	chr16	51173802	51173802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctgcaggaccacagcGttcgtgaacttcttctggca	7	11	11	12	2	2	1	0	1	2	0	3	2	2	2	1	2	5	5	1	2	1	3	rs144747142	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr16:51173802G>A	ENST00000251020.4	-	2	2364	c.2331C>T	c.(2329-2331)aaC>aaT	p.N777N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.N680N	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	777					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGACCACAGCGTTCGTGAACT	0.562													G|||	5	0.000998403	0	0	5008	,	,		19267	0.005		0	False		,,,				2504	0				GBM(103;1352 1446 1855 4775 8890)												0								G	,	1,4395	2.1+/-5.4	0,1,2197	93	95	94		2040,2331	-1	0.6	16	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,3,6495	AA,AG,GG		0.0233,0.0227,0.0231	,	680/1228,777/1325	51173802	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2331C>T	16.37:g.51173802G>A			Q99881|Q9NSC3|Q9P1R0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N777	ENST00000251020.4	37	c.2331	CCDS10747.1	16																																																																																			SALL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103449		0.562	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	54	0	G	NM_002968		51173802	-1	tier1	rs144747142	no_errors	ENST00000251020	ensembl	human	known	74_37	silent	33.85	43	22	SNP	1.000	A	A	51173802	G	A	51173802	2	1	106	1	0	0	0	0	0	0	0	1	13855	1136	40	1		1	SALL1	16	51173802	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	20439459	51173802	39180951	140	29364											
TOX3	27324	genome.wustl.edu	37	chr16	52473227	52473227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggctggctgggggctcccGatggcagggatgggggatgt	5	7	22	7	1	0	0	0	0	0	0	1	4	1	2	1	8	0	4	1	8	0	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr16:52473227G>C	ENST00000219746.9	-	7	1925	c.1641C>G	c.(1639-1641)atC>atG	p.I547M	TOX3_ENST00000407228.3_Missense_Mutation_p.I542M	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	547	Gln-rich.				apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGGGGCTCCCGATGGCAGGGA	0.557																																																	0													27	30	29					16																	52473227		2035	4201	6236	SO:0001583	missense	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1641C>G	16.37:g.52473227G>C	ENSP00000219746:p.Ile547Met		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.I547M	ENST00000219746.9	37	c.1641	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	9.819	1.185164	0.21870	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.12672	2.68;2.66	5.99	-5.37	0.02681	.	0.368223	0.28252	N	0.016038	T	0.08846	0.0219	N	0.19112	0.55	0.26326	N	0.977592	P;P	0.43477	0.808;0.497	B;B	0.40702	0.338;0.139	T	0.12142	-1.0559	10	0.72032	D	0.01	.	16.5019	0.84259	0.6868:0.0:0.3132:0.0	.	542;547	B4DRD0;O15405	.;TOX3_HUMAN	M	547;542	ENSP00000219746:I547M;ENSP00000385705:I542M	ENSP00000219746:I547M	I	-	3	3	TOX3	51030728	0.006000	0.16342	0.795000	0.32087	0.986000	0.74619	-0.552000	0.06020	-0.886000	0.03966	-0.137000	0.14449	ATC	TOX3	-	NULL	ENSG00000103460		0.557	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	-	0	63	0	G	XM_049037		52473227	-1	tier1	-	no_errors	ENST00000219746	ensembl	human	known	74_37	missense	48.57	36	34	SNP	0.341	C	C	52473227	G	C	52473227	3	2	106	1	0	0	0	0	1	0	0	0	16427	1048	37	5	93	5	TOX3	16	52473227	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	1299425	52473227	37881526	141	29365											
TP53	7157	genome.wustl.edu	37	chr17	7579315	7579315	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagggcaactgaccgtGcaagtcacagacttggctgt	9	8	11	13	1	2	2	2	1	0	1	2	2	2	2	2	2	2	3	2	2	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr17:7579315G>T	ENST00000269305.4	-	4	561	c.372C>A	c.(370-372)tgC>tgA	p.C124*	TP53_ENST00000445888.2_Nonsense_Mutation_p.C124*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C124*|TP53_ENST00000359597.4_Nonsense_Mutation_p.C124*|TP53_ENST00000413465.2_Nonsense_Mutation_p.C124*|TP53_ENST00000455263.2_Nonsense_Mutation_p.C124*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	124	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in a sporadic cancer; somatic mutation).|C -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C124*(3)|p.G59fs*23(3)|p.C124fs*1(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGACCGTGCAAGTCACAG	0.547		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	21	Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Nonsense(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	lung(5)|upper_aerodigestive_tract(4)|bone(4)|central_nervous_system(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)											66	61	63					17																	7579315		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.372C>A	17.37:g.7579315G>T	ENSP00000269305:p.Cys124*		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C124*	ENST00000269305.4	37	c.372	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.183644	0.94885	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.75	3.77	0.43336	.	0.099990	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7577	13.0886	0.59154	0.0:0.1626:0.8374:0.0	.	.	.	.	X	124;124;124;124;124;124;113;124;124	.	ENSP00000269305:C124X	C	-	3	2	TP53	7520040	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.834000	0.27518	1.343000	0.45638	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	262	0	G	NM_000546		7579315	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	77.96	67	237	SNP	1.000	T	T	7579315	G	T	7579315	4	4	106	1	0	0	0	0	0	1	0	0	16429	1311	46	3	930	3	TP53	17	7579315	Nonsense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		7579315	73615895	142	29366											
KSR1	8844	genome.wustl.edu	37	chr17	25936279	25936279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatctcaaatctaagaacGtcttctatgacaacggcaag	16	9	7	9	2	4	3	1	1	4	2	5	3	4	3	0	1	2	1	0	1	7	3	rs200491363		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr17:25936279G>A	ENST00000319524.6	+	17	2215	c.2215G>A	c.(2215-2217)Gtc>Atc	p.V739I	KSR1_ENST00000398988.3_Missense_Mutation_p.V602I|KSR1_ENST00000582410.1_5'Flank|KSR1_ENST00000509603.2_Missense_Mutation_p.V717I|KSR1_ENST00000268763.6_Missense_Mutation_p.V602I			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	739	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ATCTAAGAACGTCTTCTATGA	0.522																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)												0								G	ILE/VAL	0,4060		0,0,2030	137	136	137		1804	4.5	1	17		137	3,8387		0,3,4192	yes	missense	KSR1	NM_014238.1	29	0,3,6222	AA,AG,GG		0.0358,0.0,0.0241	benign	602/763	25936279	3,12447	2030	4195	6225	SO:0001583	missense	0			U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"kinase suppressor of ras"	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2215G>A	17.37:g.25936279G>A	ENSP00000323178:p.Val739Ile		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V739I	ENST00000319524.6	37	c.2215		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.36|13.36	2.213273|2.213273	0.39102|0.39102	0.0|0.0	3.58E-4|3.58E-4	ENSG00000141068|ENSG00000141068	ENST00000398988|ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	T|T;T;T	0.80566|0.34859	-1.39|1.34;1.34;1.34	5.52|5.52	4.54|4.54	0.55810|0.55810	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.059504	.|0.64402	.|D	.|0.000003	T|T	0.14917|0.14917	0.0360|0.0360	N|N	0.02674|0.02674	-0.535|-0.535	0.52501|0.52501	D|D	0.999951|0.999951	.|B;B	.|0.24675	.|0.109;0.002	.|B;B	.|0.28991	.|0.097;0.009	T|T	0.12682|0.12682	-1.0538|-1.0538	6|10	.|0.02654	.|T	.|1	.|.	14.3799|14.3799	0.66905|0.66905	0.075:0.0:0.925:0.0|0.075:0.0:0.925:0.0	.|.	.|737;717	.|Q8IVT5;F5H0K8	.|KSR1_HUMAN;.	H|I	452|739;717;602;602	ENSP00000381958:R452H|ENSP00000323178:V739I;ENSP00000438795:V717I;ENSP00000268763:V602I	.|ENSP00000268763:V602I	R|V	+|+	2|1	0|0	KSR1|KSR1	22960406|22960406	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.946000|0.946000	0.59487|0.59487	5.602000|5.602000	0.67612|0.67612	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	CGT|GTC	KSR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000141068		0.522	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	KSR1	HGNC	protein_coding		-	0	62	0	G	NM_014238		25936279	1	tier1	rs200491363	no_errors	ENST00000319524	ensembl	human	known	74_37	missense	21.00	79	21	SNP	1.000	A	A	25936279	G	A	25936279	3	1	106	1	0	0	0	0	1	0	0	0	8609	1145	40	1	1858	1	KSR1	17	25936279	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	18356964	25936279	55258931	143	29367											
MED1	5469	genome.wustl.edu	37	chr17	37564050	37564050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgggactattctgataaGatttctctgctatggaggag	10	13	12	6	0	2	2	0	1	2	1	3	5	2	5	0	3	2	2	0	3	3	5			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr17:37564050G>A	ENST00000300651.6	-	17	4647	c.4424C>T	c.(4423-4425)tCt>tTt	p.S1475F	MED1_ENST00000394287.3_Intron|CTB-131K11.1_ENST00000582842.1_RNA	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATTCTGATAAGATTTCTCTGC	0.453										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													91	88	89					17																	37564050		2203	4300	6503	SO:0001583	missense	0			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"PPAR binding protein"	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.4424C>T	17.37:g.37564050G>A	ENSP00000300651:p.Ser1475Phe		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S1475F	ENST00000300651.6	37	c.4424	CCDS11336.1	17	.	.	.	.	.	.	.	.	.	.	G	17.57	3.423368	0.62733	.	.	ENSG00000125686	ENST00000300651	T	0.47528	0.84	4.66	4.66	0.58398	.	.	.	.	.	T	0.56804	0.2010	N	0.24115	0.695	0.58432	D	0.999999	D	0.65815	0.995	D	0.75484	0.986	T	0.63060	-0.6721	9	0.87932	D	0	-7.3549	18.1035	0.89513	0.0:0.0:1.0:0.0	.	1475	Q15648	MED1_HUMAN	F	1475	ENSP00000300651:S1475F	ENSP00000300651:S1475F	S	-	2	0	MED1	34817576	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.166000	0.94766	2.573000	0.86826	0.561000	0.74099	TCT	MED1	-	NULL	ENSG00000125686		0.453	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256943.3	-	0	26	0	G	NM_004774		37564050	-1	tier1	-	no_errors	ENST00000300651	ensembl	human	known	74_37	missense	53.06	23	26	SNP	1.000	A	A	37564050	G	A	37564050	3	1	106	1	0	0	0	0	1	0	0	0	9463	942	33	3	325	3	MED1	17	37564050	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	11627771	37564050	43631160	144	29368											
IGFBP4	3487	genome.wustl.edu	37	chr17	38612738	38612738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcgtggcaagtgctGgtgtgtggaccggaagacgg	7	7	20	7	3	0	1	0	0	0	1	0	3	0	3	1	6	2	3	1	6	2	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr17:38612738G>T	ENST00000269593.4	+	4	955	c.680G>T	c.(679-681)tGg>tTg	p.W227L	IGFBP4_ENST00000542955.1_Missense_Mutation_p.W127L	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	227	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGCAAGTGCTGGTGTGTGGAC	0.627																																					GBM(160;940 3581 26177)												0													54	57	56					17																	38612738		2203	4300	6503	SO:0001583	missense	0			M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"IGF-binding protein 4"	146733	"insulin-like growth factor-binding protein 4"			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.680G>T	17.37:g.38612738G>T	ENSP00000269593:p.Trp227Leu		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4	p.W227L	ENST00000269593.4	37	c.680	CCDS11367.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.086337	0.94100	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.81415	-1.49;-1.49	5.43	5.43	0.79202	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	H	0.95504	3.68	0.51012	D	0.999902	D	0.89917	1.0	D	0.91635	0.999	D	0.94735	0.7913	10	0.87932	D	0	0.9026	17.0572	0.86537	0.0:0.0:1.0:0.0	.	227	P22692	IBP4_HUMAN	L	127;227	ENSP00000437734:W127L;ENSP00000269593:W227L	ENSP00000269593:W227L	W	+	2	0	IGFBP4	35866264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.449000	0.90337	2.546000	0.85860	0.655000	0.94253	TGG	IGFBP4	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata	ENSG00000141753		0.627	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFBP4	HGNC	protein_coding	OTTHUMT00000257134.1		0	26	0	G	NM_001552		38612738	1			no_errors	ENST00000269593	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	38612738	G	T	38612738	3	4	106	1	0	0	0	0	1	0	0	0	7608	1357	47	3	694	3	IGFBP4	17	38612738	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	1048688	38612738	42582472	145	29369											
KRTAP9-9	81870	genome.wustl.edu	37	chr17	39411984	39411984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactgcagaagaacctgctActacccgacgactgtctgcc	10	8	9	14	2	1	2	0	0	1	2	1	4	1	2	3	0	7	3	3	0	5	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr17:39411984A>G	ENST00000394008.1	+	1	349	c.347A>G	c.(346-348)tAc>tGc	p.Y116C		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	101	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGAACCTGCTACTACCCGACG	0.637																																																	0													170	172	171					17																	39411984		2203	4300	6503	SO:0001583	missense	0			AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"Keratin associated proteins"	16773	protein-coding gene	gene with protein product			"keratin associated protein 9-5"	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.347A>G	17.37:g.39411984A>G	ENSP00000377576:p.Tyr116Cys		B5MDD6|Q9BYQ1	Missense_Mutation	SNP	NULL	p.Y116C	ENST00000394008.1	37	c.347	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	10.74	1.435387	0.25813	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.00808	5.67	2.35	2.35	0.29111	.	.	.	.	.	T	0.01092	0.0036	N	0.03177	-0.4	0.25017	N	0.99137	D	0.76494	0.999	D	0.73380	0.98	T	0.51244	-0.8730	9	0.06625	T	0.88	.	8.6072	0.33780	1.0:0.0:0.0:0.0	.	101	Q9BYP9	KRA99_HUMAN	C	122;116	ENSP00000377576:Y116C	ENSP00000377576:Y116C	Y	+	2	0	KRTAP9-9	36665510	0.958000	0.32768	0.975000	0.42487	0.054000	0.15201	1.097000	0.30988	1.351000	0.45789	0.374000	0.22700	TAC	KRTAP9-9	-	NULL	ENSG00000198083		0.637	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	HGNC	protein_coding	OTTHUMT00000257710.1	-	0	117	0	A	NM_030975		39411984	1	tier1	-	no_errors	ENST00000394008	ensembl	human	known	74_37	missense	51.08	112	118	SNP	0.988	G	G	39411984	A	G	39411984	3	3	106	1	0	0	0	0	1	0	0	0	8605	391	14	4	349	4	KRTAP9-9	17	39411984	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	799246	39411984	41783226	146	29370											
PYY	5697	genome.wustl.edu	37	chr17	42030684	42030684	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctgccgggtgaccaggttGaggtagtggcgcagggaggc	6	6	20	9	3	0	2	0	2	0	0	0	3	0	3	2	6	1	4	2	6	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr17:42030684G>C	ENST00000360085.2	-	5	708	c.168C>G	c.(166-168)ctC>ctG	p.L56L	PYY_ENST00000592796.1_Silent_p.L56L	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	56					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGACCAGGTTGAGGTAGTGGC	0.721																																																	0													17	19	18					17																	42030684		2201	4298	6499	SO:0001819	synonymous_variant	0				CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"Endogenous ligands"	9748	protein-coding gene	gene with protein product	"prepro-PYY"	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.168C>G	17.37:g.42030684G>C			Q5U5Q6|Q6FGH8	Silent	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.L56	ENST00000360085.2	37	c.168	CCDS32662.1	17																																																																																			PYY	-	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	ENSG00000131096		0.721	PYY-001	KNOWN	basic|CCDS	protein_coding	PYY	HGNC	protein_coding	OTTHUMT00000457658.1	-	0	19	0	G	NM_004160		42030684	-1	tier1	-	no_errors	ENST00000360085	ensembl	human	known	74_37	silent	28.57	40	16	SNP	1.000	C	C	42030684	G	C	42030684	2	2	106	1	0	0	0	0	0	0	0	1	12913	1277	45	5		5	PYY	17	42030684	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	2618700	42030684	39164526	147	29371											
LPO	4025	genome.wustl.edu	37	chr17	56343639	56343639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacaggatccatggctttGacctggctgccatcaacaca	10	9	8	14	0	2	1	2	1	0	0	3	2	3	2	3	3	2	2	3	3	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr17:56343639G>A	ENST00000262290.4	+	11	1961	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	LPO_ENST00000421678.2_Missense_Mutation_p.D466N|LPO_ENST00000543544.1_Missense_Mutation_p.D490N|LPO_ENST00000582328.1_Missense_Mutation_p.D466N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	549					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCATGGCTTTGACCTGGCTGC	0.507																																																	0													58	52	54					17																	56343639		2203	4300	6503	SO:0001583	missense	0			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1645G>A	17.37:g.56343639G>A	ENSP00000262290:p.Asp549Asn		A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.D549N	ENST00000262290.4	37	c.1645	CCDS32689.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.546229	0.96488	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.79454	-1.27;-1.27;-1.27	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	H	0.98507	4.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95415	0.8502	10	0.87932	D	0	-44.0512	19.0909	0.93227	0.0:0.0:1.0:0.0	.	466;549	E7EMJ3;P22079	.;PERL_HUMAN	N	549;466;490;294	ENSP00000262290:D549N;ENSP00000400245:D466N;ENSP00000445344:D490N	ENSP00000262290:D549N	D	+	1	0	LPO	53698638	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.435000	0.97529	2.756000	0.94617	0.655000	0.94253	GAC	LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000167419		0.507	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	-	0	30	0	G			56343639	1	tier1	-	no_errors	ENST00000262290	ensembl	human	known	74_37	missense	19.05	34	8	SNP	1.000	A	A	56343639	G	A	56343639	3	1	106	1	0	0	0	0	1	0	0	0	8957	1290	45	3	1683	3	LPO	17	56343639	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	14312955	56343639	24851571	148	29372											
PTPRM	5797	genome.wustl.edu	37	chr18	8244113	8244113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgacaggagatgactgtGatggtgaactcaatggacaa	14	7	12	8	1	1	4	1	3	0	1	1	7	1	5	1	3	1	0	1	3	3	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr18:8244113G>A	ENST00000332175.8	+	15	3395	c.2358G>A	c.(2356-2358)gtG>gtA	p.V786V	PTPRM_ENST00000580170.1_Silent_p.V786V|PTPRM_ENST00000400053.4_Silent_p.V724V|PTPRM_ENST00000444013.1_Silent_p.V573V|PTPRM_ENST00000400060.4_Silent_p.V786V	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	786					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGACTGTGATGGTGAACT	0.473																																																	0													145	137	140					18																	8244113		2203	4300	6503	SO:0001819	synonymous_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2358G>A	18.37:g.8244113G>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.V786	ENST00000332175.8	37	c.2358	CCDS11840.1	18																																																																																			PTPRM	-	NULL	ENSG00000173482		0.473	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0	81	0	G			8244113	1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	silent	28.30	76	30	SNP	1.000	A	A	8244113	G	A	8244113	2	1	106	1	0	0	0	0	0	0	0	1	12851	1277	45	3		3	PTPRM	18	8244113	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		8244113	69833135	149	29373											
CTDP1	9150	genome.wustl.edu	37	chr18	77473117	77473117	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcgccccctgggtcccgaGaatctcagacgagaaagaaa	13	5	11	12	3	1	4	1	0	1	4	3	6	2	4	3	1	1	0	3	1	3	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr18:77473117G>C	ENST00000299543.7	+	7	1156	c.1009G>C	c.(1009-1011)Gaa>Caa	p.E337Q	CTDP1_ENST00000075430.7_Missense_Mutation_p.E337Q	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	337	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		TGGGTCCCGAGAATCTCAGAC	0.433																																																	0													59	58	58					18																	77473117		2203	4300	6503	SO:0001583	missense	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1009G>C	18.37:g.77473117G>C	ENSP00000299543:p.Glu337Gln		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.E337Q	ENST00000299543.7	37	c.1009	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667528	0.67814	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.11712	2.77;2.75	4.82	4.82	0.62117	NLI interacting factor (1);	0.150275	0.64402	D	0.000017	T	0.17238	0.0414	N	0.22421	0.69	0.58432	D	0.999998	P;D;P	0.60160	0.888;0.987;0.908	P;P;P	0.57371	0.661;0.819;0.771	T	0.04360	-1.0957	10	0.36615	T	0.2	-21.7153	18.26	0.90031	0.0:0.0:1.0:0.0	.	218;337;337	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	Q	337	ENSP00000299543:E337Q;ENSP00000075430:E337Q	ENSP00000075430:E337Q	E	+	1	0	CTDP1	75574105	1.000000	0.71417	0.996000	0.52242	0.097000	0.18754	8.561000	0.90715	2.364000	0.80123	0.655000	0.94253	GAA	CTDP1	-	pfscan_NIF	ENSG00000060069		0.433	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0	21	0	G	NM_004715		77473117	1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	missense	32.56	29	14	SNP	1.000	C	C	77473117	G	C	77473117	3	2	106	1	0	0	0	0	1	0	0	0	4011	943	33	5	1035	5	CTDP1	18	77473117	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	69229004	77473117	604131	150	29374											
ANKRD24	170961	genome.wustl.edu	37	chr19	4219681	4219681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctacgggggctacggaccGaggcggaaagggctcgccag	9	3	18	11	5	0	0	0	0	0	0	1	3	0	2	2	6	3	3	2	6	3	2	rs546339422		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:4219681G>A	ENST00000600132.1	+	19	3373	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	ANKRD24_ENST00000262970.5_Missense_Mutation_p.E1123K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E1033K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1033								p.E1033K(1)|p.E598K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GCTACGGACCGAGGCGGAAAG	0.667													G|||	1	0.000199681	0	0	5008	,	,		17055	0.001		0	False		,,,				2504	0																2	Substitution - Missense(2)	large_intestine(2)											41	50	47					19																	4219681		2112	4238	6350	SO:0001583	missense	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.3097G>A	19.37:g.4219681G>A	ENSP00000471252:p.Glu1033Lys		O75268|O95781	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1033K	ENST00000600132.1	37	c.3097	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	g	9.701	1.154577	0.21371	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	T;T	0.29655	1.57;1.56	3.79	3.79	0.43588	.	.	.	.	.	T	0.15912	0.0383	L	0.27053	0.805	0.28627	N	0.907878	P	0.39181	0.663	B	0.31495	0.131	T	0.04915	-1.0918	9	0.02654	T	1	.	11.8657	0.52493	0.0:0.0:1.0:0.0	.	1033	Q8TF21	ANR24_HUMAN	K	1033;1123	ENSP00000321731:E1033K;ENSP00000262970:E1123K	ENSP00000262970:E1123K	E	+	1	0	ANKRD24	4170681	0.999000	0.42202	0.849000	0.33467	0.435000	0.31806	3.400000	0.52594	2.080000	0.62538	0.313000	0.20887	GAG	ANKRD24	-	NULL	ENSG00000089847		0.667	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	-	0	36	0	G	XM_114000		4219681	1	tier1	-	no_errors	ENST00000318934	ensembl	human	known	74_37	missense	33.78	49	25	SNP	0.941	A	A	4219681	G	A	4219681	3	1	106	1	0	0	0	0	1	0	0	0	653	1059	37	1	3167	1	ANKRD24	19	4219681	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		4219681	54909302	151	29375											
ZNF99	7652	genome.wustl.edu	37	chr19	22940566	22940566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctaagagttgaggactgGctaaaagctttgccacattc	11	13	9	8	0	1	2	0	1	1	1	2	3	1	3	1	2	2	3	1	2	3	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:22940566G>A	ENST00000596209.1	-	4	2235	c.2145C>T	c.(2143-2145)agC>agT	p.S715S	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.S624S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	715					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGAGGACTGGCTAAAAGCTT	0.373																																																	0													41	44	43					19																	22940566		2079	4218	6297	SO:0001819	synonymous_variant	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2145C>T	19.37:g.22940566G>A			M0R335	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S624	ENST00000596209.1	37	c.1872	CCDS59369.1	19																																																																																			ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213973		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	-	0	49	0	G	XM_065124		22940566	-1	tier1	-	no_errors	ENST00000397104	ensembl	human	known	74_37	silent	38.89	33	21	SNP	0.000	A	A	22940566	G	A	22940566	2	1	106	1	0	0	0	0	0	0	0	1	18252	1194	42	3		3	ZNF99	19	22940566	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	18720885	22940566	36188417	152	29376											
PAK4	10298	genome.wustl.edu	37	chr19	39665640	39665640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagctacctggtgggggacGagctctgggtggtcatggag	7	8	18	8	1	2	0	1	0	1	0	2	3	2	2	1	6	3	2	1	6	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:39665640G>A	ENST00000593690.1	+	7	1595	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	PAK4_ENST00000321944.4_Missense_Mutation_p.E300K|PAK4_ENST00000435673.2_Missense_Mutation_p.E390K|PAK4_ENST00000358301.3_Missense_Mutation_p.E390K|PAK4_ENST00000599470.1_Missense_Mutation_p.E237K|PAK4_ENST00000599386.1_Missense_Mutation_p.E237K|PAK4_ENST00000360442.3_Missense_Mutation_p.E390K	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	390	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GGTGGGGGACGAGCTCTGGGT	0.597																																																	0													187	170	176					19																	39665640		2203	4300	6503	SO:0001583	missense	0			AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"p21(CDKN1A)-activated kinase 4"			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.1168G>A	19.37:g.39665640G>A	ENSP00000469413:p.Glu390Lys		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom	p.E390K	ENST00000593690.1	37	c.1168	CCDS12528.1	19	.	.	.	.	.	.	.	.	.	.	G	31	5.101975	0.94245	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000358801;ENST00000542377;ENST00000435673;ENST00000360442	T;T;T	0.65549	-0.16;-0.16;-0.16	4.24	4.24	0.50183	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	N	0.17082	0.46	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.72982	0.955;0.97;0.979	T	0.70988	-0.4722	10	0.87932	D	0	.	14.1669	0.65483	0.0:0.0:1.0:0.0	.	300;237;390	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	K	390;237;194;146;390;390	ENSP00000351049:E390K;ENSP00000392753:E390K;ENSP00000353625:E390K	ENSP00000326864:E237K	E	+	1	0	PAK4	44357480	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.541000	0.98083	2.189000	0.69895	0.556000	0.70494	GAG	PAK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000130669		0.597	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK4	HGNC	protein_coding	OTTHUMT00000463823.1	-	0	47	0	G			39665640	1	tier1	-	no_errors	ENST00000358301	ensembl	human	known	74_37	missense	22.06	53	15	SNP	1.000	A	A	39665640	G	A	39665640	3	1	106	1	0	0	0	0	1	0	0	0	11442	1059	37	1	1182	1	PAK4	19	39665640	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	16725074	39665640	19463343	153	29377											
PSMC4	5704	genome.wustl.edu	37	chr19	40477127	40477127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatggaggagataggcatCttggtggagaaggctcaggt	11	9	16	5	0	2	2	1	0	1	2	2	5	2	3	0	7	0	2	0	7	3	3	rs547778812		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:40477127C>G	ENST00000157812.2	+	1	216	c.18C>G	c.(16-18)atC>atG	p.I6M	PSMC4_ENST00000455878.2_Missense_Mutation_p.I6M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	6					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I6M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGATAGGCATCTTGGTGGAGA	0.617																																					Colon(105;1478 1543 4034 6132 38638)												1	Substitution - Missense(1)	lung(1)											153	133	139					19																	40477127		2203	4300	6503	SO:0001583	missense	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"Proteasome (prosome, macropain) subunits", "ATPases / AAA-type"	9551	protein-coding gene	gene with protein product	"protease 26S subunit 6", "Tat-binding protein 7", "MB67 interacting protein"	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.18C>G	19.37:g.40477127C>G	ENSP00000157812:p.Ile6Met		Q96FV5|Q9UBM3|Q9UEX3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.I6M	ENST00000157812.2	37	c.18	CCDS12547.1	19	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802883	0.50315	.	.	ENSG00000013275	ENST00000157812;ENST00000455878	D;D	0.95307	-3.57;-3.67	6.06	-0.256	0.12984	.	0.289012	0.38548	N	0.001659	D	0.90086	0.6903	L	0.43923	1.385	0.30516	N	0.768943	P;P	0.39216	0.571;0.664	B;B	0.42653	0.394;0.115	D	0.85866	0.1413	10	0.87932	D	0	-0.8958	4.6991	0.12818	0.1482:0.4928:0.0:0.3591	.	6;6	P43686-2;P43686	.;PRS6B_HUMAN	M	6	ENSP00000157812:I6M;ENSP00000413869:I6M	ENSP00000157812:I6M	I	+	3	3	PSMC4	45168967	0.765000	0.28485	0.989000	0.46669	0.981000	0.71138	-0.005000	0.12855	0.142000	0.18901	-0.188000	0.12872	ATC	PSMC4	-	NULL	ENSG00000013275		0.617	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1	-	0	61	0	C	NM_006503		40477127	1	tier1	-	no_errors	ENST00000157812	ensembl	human	known	74_37	missense	36.17	90	51	SNP	0.972	G	G	40477127	C	G	40477127	3	3	106	1	0	0	0	0	1	0	0	0	12731	903	32	5	20	5	PSMC4	19	40477127	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	811487	40477127	18651856	154	29378											
GRIN2D	2906	genome.wustl.edu	37	chr19	48945210	48945210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgttgctgcagttcctggggGatggtgcggctgcacacagg	5	9	17	10	2	0	0	0	0	0	0	1	1	1	1	1	5	4	6	1	5	0	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:48945210G>A	ENST00000263269.3	+	11	2525	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	813					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCCTGGGGGATGGTGCGGC	0.662																																																	0													28	28	28					19																	48945210		2203	4300	6503	SO:0001583	missense	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4588	protein-coding gene	gene with protein product	"N-methyl-d-aspartate receptor subunit 2D"	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2437G>A	19.37:g.48945210G>A	ENSP00000263269:p.Asp813Asn			Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D813N	ENST00000263269.3	37	c.2437	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646915	0.67358	.	.	ENSG00000105464	ENST00000263269	T	0.32988	1.43	4.5	4.5	0.54988	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.31796	0.0808	N	0.03948	-0.315	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.42464	-0.9450	10	0.30078	T	0.28	.	16.565	0.84577	0.0:0.0:1.0:0.0	.	813	O15399	NMDE4_HUMAN	N	813	ENSP00000263269:D813N	ENSP00000263269:D813N	D	+	1	0	GRIN2D	53637022	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.643000	0.98464	2.515000	0.84797	0.456000	0.33151	GAT	GRIN2D	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105464		0.662	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	-	0	30	0	G			48945210	1	tier1	-	no_errors	ENST00000263269	ensembl	human	known	74_37	missense	21.57	40	11	SNP	1.000	A	A	48945210	G	A	48945210	3	1	106	1	0	0	0	0	1	0	0	0	6809	1174	41	3	2475	3	GRIN2D	19	48945210	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	8468083	48945210	10183773	155	29379											
MYH14	79784	genome.wustl.edu	37	chr19	50783319	50783319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagaatgtgtctggggCgctgaacgaggctgagtcca	9	8	16	8	2	1	3	0	2	1	1	2	5	2	3	1	4	1	2	1	4	2	0	rs561525083	byFrequency	TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:50783319C>T	ENST00000596571.1	+	28	3935	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	MYH14_ENST00000440075.2_Missense_Mutation_p.A1353V|MYH14_ENST00000262269.8_Missense_Mutation_p.A1353V|MYH14_ENST00000425460.1_Missense_Mutation_p.A1320V|MYH14_ENST00000376970.2_Missense_Mutation_p.A1345V|MYH14_ENST00000601313.1_Missense_Mutation_p.A1353V|MYH14_ENST00000598205.1_Missense_Mutation_p.A1320V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1312					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTGTCTGGGGCGCTGAACGAG	0.597													C|||	2	0.000399361	0	0	5008	,	,		20391	0.002		0	False		,,,				2504	0																0													55	61	59					19																	50783319		2165	4256	6421	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3935C>T	19.37:g.50783319C>T	ENSP00000472819:p.Ala1312Val		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.A1353V	ENST00000596571.1	37	c.4058	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141646	0.21205	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	3.38	3.38	0.38709	Myosin tail (1);	.	.	.	.	T	0.62768	0.2455	N	0.20986	0.625	0.09310	N	1	B;B;B	0.25272	0.122;0.057;0.02	B;B;B	0.22753	0.041;0.022;0.006	T	0.54622	-0.8266	9	0.54805	T	0.06	.	6.7016	0.23229	0.0:0.8686:0.0:0.1313	.	1353;1312;1320	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	1312;1353;1345;1320;1312;1353	ENSP00000406273:A1353V;ENSP00000366169:A1345V;ENSP00000407879:A1320V;ENSP00000262269:A1353V	ENSP00000262269:A1353V	A	+	2	0	MYH14	55475131	0.059000	0.20769	0.730000	0.30809	0.888000	0.51559	2.913000	0.48790	1.922000	0.55676	0.455000	0.32223	GCG	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.597	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0	52	0	C	NM_024729		50783319	1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	17.98	73	16	SNP	0.012	T	T	50783319	C	T	50783319	3	4	106	1	0	0	0	0	1	0	0	0	10071	768	27	1	4176	1	MYH14	19	50783319	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	1838109	50783319	8345664	156	29380											
MYH14	79784	genome.wustl.edu	37	chr19	50785086	50785086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctggagaagaagcagcGcaagtttgaccaggtggggc	11	5	15	10	1	0	3	0	1	0	2	0	4	0	3	2	4	2	3	2	4	3	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:50785086G>A	ENST00000596571.1	+	30	4403	c.4403G>A	c.(4402-4404)cGc>cAc	p.R1468H	MYH14_ENST00000440075.2_Missense_Mutation_p.R1509H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1509H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1476H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1501H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1509H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1476H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1468					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AAGAAGCAGCGCAAGTTTGAC	0.632																																																	0													16	18	18					19																	50785086		2087	4162	6249	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4403G>A	19.37:g.50785086G>A	ENSP00000472819:p.Arg1468His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1509H	ENST00000596571.1	37	c.4526	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063383	0.76187	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	3.9	2.86	0.33363	Myosin tail (1);	.	.	.	.	D	0.90748	0.7096	M	0.74881	2.28	0.30620	N	0.7586	D;D;D	0.76494	0.999;0.997;0.998	D;D;P	0.68621	0.959;0.958;0.897	D	0.85527	0.1207	8	.	.	.	.	5.3555	0.16059	0.228:0.0:0.772:0.0	.	1509;1468;1476	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1509;1501;1476;1509	ENSP00000406273:R1509H;ENSP00000366169:R1501H;ENSP00000407879:R1476H;ENSP00000262269:R1509H	.	R	+	2	0	MYH14	55476898	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.899000	0.75682	2.195000	0.70347	0.561000	0.74099	CGC	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.632	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0	32	0	G	NM_024729		50785086	1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	A	A	50785086	G	A	50785086	3	1	106	1	0	0	0	0	1	0	0	0	10071	1087	38	1	4652	1	MYH14	19	50785086	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	1767	50785086	8343897	157	29381											
ZNF320	162967	genome.wustl.edu	37	chr19	53385226	53385226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtattcatcatgcatttGgaagagatatctacaaaata	17	13	6	5	0	3	1	2	0	1	1	3	3	3	2	0	1	2	2	0	1	8	6			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:53385226G>A	ENST00000595635.1	-	8	654	c.153C>T	c.(151-153)tcC>tcT	p.S51S	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Silent_p.S51S	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCATGCATTTGGAAGAGATAT	0.353																																																	0													113	112	112					19																	53385226		2200	4298	6498	SO:0001819	synonymous_variant	0			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"Zinc fingers, C2H2-type", "-"	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.153C>T	19.37:g.53385226G>A			Q8NDR6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S51	ENST00000595635.1	37	c.153	CCDS33095.1	19																																																																																			ZNF320	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000182986		0.353	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	-	0	107	0	G	NM_207333		53385226	-1	tier1	-	no_errors	ENST00000391781	ensembl	human	known	74_37	silent	28.36	144	57	SNP	0.000	A	A	53385226	G	A	53385226	2	1	106	1	0	0	0	0	0	0	0	1	17887	1335	47	3		3	ZNF320	19	53385226	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	2600140	53385226	5743757	158	29382											
ZNF264	9422	genome.wustl.edu	37	chr19	57723030	57723030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtagccataactcatgtGagtcaggtaaagatcccatg	12	10	9	10	1	2	2	2	1	0	1	4	2	4	2	3	1	2	2	3	1	4	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:57723030G>C	ENST00000263095.6	+	4	979	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.E189Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TAACTCATGTGAGTCAGGTAA	0.433																																																	0													92	84	87					19																	57723030		2203	4300	6503	SO:0001583	missense	0			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"Zinc fingers, C2H2-type", "-"	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.565G>C	19.37:g.57723030G>C	ENSP00000263095:p.Glu189Gln		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E189Q	ENST00000263095.6	37	c.565	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	3.667	-0.068313	0.07228	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.25085	1.82;1.82	1.79	0.715	0.18186	.	.	.	.	.	T	0.19886	0.0478	L	0.46157	1.445	0.09310	N	1	B	0.20550	0.046	B	0.18263	0.021	T	0.23190	-1.0195	9	0.44086	T	0.13	.	5.4434	0.16521	0.3127:0.0:0.6873:0.0	.	189	O43296	ZN264_HUMAN	Q	189	ENSP00000263095:E189Q;ENSP00000440376:E189Q	ENSP00000263095:E189Q	E	+	1	0	ZNF264	62414842	0.056000	0.20664	0.001000	0.08648	0.013000	0.08279	1.699000	0.37804	0.321000	0.23259	0.555000	0.69702	GAG	ZNF264	-	NULL	ENSG00000083844		0.433	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	-	0	31	0	G			57723030	1	tier1	-	no_errors	ENST00000263095	ensembl	human	known	74_37	missense	29.27	29	12	SNP	0.004	C	C	57723030	G	C	57723030	3	2	106	1	0	0	0	0	1	0	0	0	17852	1291	45	5	579	5	ZNF264	19	57723030	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	4337804	57723030	1405953	159	29383											
ZNF671	79891	genome.wustl.edu	37	chr19	58232613	58232613	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacctgtgatacctctgtcCcatgagaaagccactcacaa	13	8	6	14	0	2	2	1	2	1	1	3	3	3	2	4	0	2	0	4	0	3	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:58232613C>A	ENST00000317398.6	-	4	936	c.841G>T	c.(841-843)Gga>Tga	p.G281*	ZNF671_ENST00000594803.1_5'Flank|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Nonsense_Mutation_p.G183*	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACCTCTGTCCCATGAGAAAG	0.517																																																	0													86	81	83					19																	58232613		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"Zinc fingers, C2H2-type", "-"	26279	protein-coding gene	gene with protein product	"hypothetical protein FLJ23506"					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.841G>T	19.37:g.58232613C>A	ENSP00000321848:p.Gly281*		A6NF07|Q9H5E9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G281*	ENST00000317398.6	37	c.841	CCDS12961.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496363	0.85069	.	.	ENSG00000083814	ENST00000317398;ENST00000335820	.	.	.	1.94	0.846	0.18955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.2314	0.31601	0.0:0.7498:0.2502:0.0	.	.	.	.	X	281;183	.	ENSP00000321848:G281X	G	-	1	0	ZNF671	62924425	0.000000	0.05858	0.001000	0.08648	0.327000	0.28475	0.704000	0.25661	0.364000	0.24374	0.467000	0.42956	GGA	ZNF671	-	NULL	ENSG00000083814		0.517	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0	52	0	C	NM_024833		58232613	-1	tier1	-	no_errors	ENST00000317398	ensembl	human	known	74_37	nonsense	8.71	262	25	SNP	0.001	A	A	58232613	C	A	58232613	4	1	106	1	0	0	0	0	0	1	0	0	18126	632	22	3	767	3	ZNF671	19	58232613	Nonsense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	509583	58232613	896370	160	29384											
CHMP2A	27243	genome.wustl.edu	37	chr19	59063771	59063771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcacatagcgccgggtgCgcaccaagtcttttgccatg	7	9	12	13	4	1	0	0	0	1	0	1	0	1	0	3	1	4	2	3	1	2	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:59063771C>G	ENST00000600118.1	-	2	628	c.203G>C	c.(202-204)cGc>cCc	p.R68P	CHMP2A_ENST00000312547.2_Missense_Mutation_p.R68P|CHMP2A_ENST00000601220.1_Missense_Mutation_p.R68P			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	68	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)	p.R68H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GCGCCGGGTGCGCACCAAGTC	0.507																																																	1	Substitution - Missense(1)	lung(1)											105	97	100					19																	59063771		2203	4300	6503	SO:0001583	missense	0			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"Charged multivesicular body proteins"	30216	protein-coding gene	gene with protein product	"putative breast adenocarcinoma marker (32kD)", "VPS2 homolog A (S. cerevisiae)"	610893	"chromatin modifying protein 2A"			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.203G>C	19.37:g.59063771C>G	ENSP00000469240:p.Arg68Pro		B2R4W6|Q3ZTT0	Missense_Mutation	SNP	pfam_Snf7	p.R68P	ENST00000600118.1	37	c.203	CCDS12986.1	19	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093831	0.56075	.	.	ENSG00000130724	ENST00000312547	T	0.74209	-0.82	5.21	4.18	0.49190	.	0.000000	0.85682	D	0.000000	D	0.89602	0.6762	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91804	0.5454	10	0.87932	D	0	.	11.877	0.52552	0.0:0.9143:0.0:0.0857	.	68	O43633	CHM2A_HUMAN	P	68	ENSP00000310440:R68P	ENSP00000310440:R68P	R	-	2	0	CHMP2A	63755583	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	7.020000	0.76419	1.353000	0.45828	-0.136000	0.14681	CGC	CHMP2A	-	pfam_Snf7	ENSG00000130724		0.507	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHMP2A	HGNC	protein_coding	OTTHUMT00000467088.1		0	41	0	C	NM_014453		59063771	-1			no_errors	ENST00000312547	ensembl	human	known	74_37	missense	7.00	93	7	SNP	1.000	G	G	59063771	C	G	59063771	3	3	106	1	0	0	0	0	1	0	0	0	3361	768	27	5	481	5	CHMP2A	19	59063771	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	831158	59063771	65212	161	29385											
UBE2M	9040	genome.wustl.edu	37	chr19	59068438	59068438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcaccctcacctcatcagGacagatgaccagcttgaagt	12	8	8	13	0	3	3	3	2	0	1	3	4	3	4	3	1	2	2	3	1	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr19:59068438G>A	ENST00000253023.3	-	2	774	c.196C>T	c.(196-198)Cct>Tct	p.P66S	AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	66					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCTCATCAGGACAGATGACC	0.547																																																	0													167	140	149					19																	59068438		2203	4300	6503	SO:0001583	missense	0			AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"Ubiquitin-conjugating enzymes E2"	12491	protein-coding gene	gene with protein product		603173	"ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)", "ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.196C>T	19.37:g.59068438G>A	ENSP00000253023:p.Pro66Ser		O76069|Q8VC50	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.P66S	ENST00000253023.3	37	c.196	CCDS12987.1	19	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518502	0.64634	.	.	ENSG00000130725	ENST00000253023	T	0.37411	1.2	4.25	4.25	0.50352	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.49305	D	0.000144	T	0.67785	0.2930	H	0.96365	3.81	0.50171	D	0.999858	D	0.89917	1.0	D	0.83275	0.996	T	0.74765	-0.3554	10	0.87932	D	0	.	8.1808	0.31309	0.1081:0.0:0.8918:0.0	.	66	P61081	UBC12_HUMAN	S	66	ENSP00000253023:P66S	ENSP00000253023:P66S	P	-	1	0	UBE2M	63760250	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.995000	0.63908	2.385000	0.81259	0.491000	0.48974	CCT	UBE2M	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000130725		0.547	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2M	HGNC	protein_coding	OTTHUMT00000467097.1	-	0	56	0	G	NM_003969		59068438	-1	tier1	-	no_errors	ENST00000253023	ensembl	human	known	74_37	missense	64.86	13	24	SNP	1.000	A	A	59068438	G	A	59068438	3	1	106	1	0	0	0	0	1	0	0	0	16914	1174	41	3	375	3	UBE2M	19	59068438	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	4667	59068438	60545	162	29386											
C20orf196	149840	genome.wustl.edu	37	chr20	5843675	5843675	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttttgtcttgcagacaccAgtaacttaaatatagaacaa	15	12	6	8	1	1	2	0	0	1	2	1	2	1	2	1	0	3	3	1	0	7	7			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:5843675A>T	ENST00000303142.6	+	3	271	c.184A>T	c.(184-186)Agt>Tgt	p.S62C		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	62										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						TGCAGACACCAGTAACTTAAA	0.413																																																	0													40	44	43					20																	5843675		2203	4300	6503	SO:0001583	missense	0			AK057796	CCDS13091.1	20p12.3	2006-07-07			ENSG00000171984	ENSG00000171984			26318	protein-coding gene	gene with protein product						12477932	Standard	NM_152504		Approved	FLJ25067	uc002wmf.3	Q8IYI0	OTTHUMG00000031813	ENST00000303142.6:c.184A>T	20.37:g.5843675A>T	ENSP00000305875:p.Ser62Cys		A8K9J3|Q5TGA9|Q96LU1	Missense_Mutation	SNP	NULL	p.S62C	ENST00000303142.6	37	c.184	CCDS13091.1	20	.	.	.	.	.	.	.	.	.	.	A	10.18	1.278542	0.23307	.	.	ENSG00000171984	ENST00000303142;ENST00000378971;ENST00000445603;ENST00000442185	T;T;T	0.51325	0.71;0.71;0.71	5.64	0.913	0.19354	.	0.830178	0.11091	N	0.600770	T	0.51702	0.1690	L	0.56769	1.78	0.09310	N	1	D	0.59357	0.985	P	0.52267	0.694	T	0.42565	-0.9444	10	0.72032	D	0.01	-16.764	7.8677	0.29547	0.6649:0.0:0.3351:0.0	.	62	Q8IYI0	CT196_HUMAN	C	62;62;62;109	ENSP00000305875:S62C;ENSP00000399331:S62C;ENSP00000410534:S109C	ENSP00000305875:S62C	S	+	1	0	C20orf196	5791675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.144000	0.16135	-0.114000	0.11936	-1.069000	0.02264	AGT	C20orf196	-	NULL	ENSG00000171984		0.413	C20orf196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf196	HGNC	protein_coding	OTTHUMT00000077882.2		0	20	0	A	NM_152504		5843675	1			no_errors	ENST00000303142	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.000	T	T	5843675	A	T	5843675	3	4	106	1	0	0	0	0	1	0	0	0	2108	188	7	5	190	5	C20orf196	20	5843675	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09		5843675	57181845	163	29387											
XKR7	343702	genome.wustl.edu	37	chr20	30584580	30584580	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggacttctgcatgtccAagtgggaggagatcatctac	11	9	12	9	1	3	2	1	0	2	2	4	5	4	4	1	3	2	1	1	3	2	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:30584580A>C	ENST00000562532.2	+	3	1234	c.1060A>C	c.(1060-1062)Aag>Cag	p.K354Q		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	354						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGCATGTCCAAGTGGGAGGA	0.562																																																	0													80	63	68					20																	30584580		2203	4300	6503	SO:0001583	missense	0			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 7", "chromosome 20 open reading frame 159"	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1060A>C	20.37:g.30584580A>C	ENSP00000477059:p.Lys354Gln		Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.K354Q	ENST00000562532.2	37	c.1060	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	a	18.94	3.730100	0.69074	.	.	ENSG00000101321	ENST00000217299	T	0.64618	-0.11	5.41	5.41	0.78517	.	0.055146	0.64402	D	0.000002	T	0.74366	0.3707	M	0.63428	1.95	0.49130	D	0.999758	D	0.89917	1.0	D	0.79784	0.993	T	0.76019	-0.3112	10	0.56958	D	0.05	.	10.7473	0.46187	0.8408:0.1592:0.0:0.0	.	354	Q5GH72	XKR7_HUMAN	Q	354	ENSP00000217299:K354Q	ENSP00000217299:K354Q	K	+	1	0	XKR7	30048241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.336000	0.96533	2.058000	0.61347	0.454000	0.30748	AAG	XKR7	-	pfam_Transport_prot_XK	ENSG00000260903		0.562	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	-	0	41	0	A	NM_001011718		30584580	1	tier1	-	no_errors	ENST00000562532	ensembl	human	known	74_37	missense	38.78	30	19	SNP	1.000	C	C	30584580	A	C	30584580	3	2	106	1	0	0	0	0	1	0	0	0	17485	131	5	4	1070	4	XKR7	20	30584580	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	24740905	30584580	32440940	164	29388											
ACSS2	55902	genome.wustl.edu	37	chr20	33508430	33508430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcagaggatgtgttctGgtgcacggcagacattggtt	8	11	14	8	1	1	2	0	0	1	2	1	3	1	3	1	4	2	5	1	4	0	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:33508430G>C	ENST00000360596.2	+	9	1272	c.1061G>C	c.(1060-1062)tGg>tCg	p.W354S	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.W304S|ACSS2_ENST00000253382.5_Missense_Mutation_p.W367S	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	354					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GATGTGTTCTGGTGCACGGCA	0.522																																																	0													214	166	182					20																	33508430		2203	4300	6503	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1061G>C	20.37:g.33508430G>C	ENSP00000353804:p.Trp354Ser		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W367S	ENST00000360596.2	37	c.1100	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195719	0.78902	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.40476	1.03;1.03;1.03	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.92317	3.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.80589	-0.1315	10	0.87932	D	0	-21.8247	18.9627	0.92682	0.0:0.0:1.0:0.0	.	367;354	Q5QPH3;Q9NR19	.;ACSA_HUMAN	S	304;354;352;62;367	ENSP00000337190:W304S;ENSP00000353804:W354S;ENSP00000253382:W367S	ENSP00000253382:W367S	W	+	2	0	ACSS2	32972091	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.715000	0.92844	0.655000	0.94253	TGG	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.522	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	-	0	22	0	G	NM_018677		33508430	1	tier1	-	no_errors	ENST00000253382	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	C	C	33508430	G	C	33508430	3	2	106	1	0	0	0	0	1	0	0	0	189	1357	47	5	1138	5	ACSS2	20	33508430	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	2923850	33508430	29517090	165	29389			2	29		6	6	1229	G		1.748658e-13
ACSS2	55902	genome.wustl.edu	37	chr20	33508850	33508850	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccggacgtgaaccgcctgtgGagcattgtggacaaatacaa	12	7	12	10	3	0	1	0	1	0	0	0	4	0	4	3	3	3	1	3	3	4	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:33508850G>A	ENST00000360596.2	+	10	1396	c.1185G>A	c.(1183-1185)tgG>tgA	p.W395*	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Nonsense_Mutation_p.W345*|ACSS2_ENST00000253382.5_Nonsense_Mutation_p.W408*	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	395					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACCGCCTGTGGAGCATTGTGG	0.512																																																	0													205	187	193					20																	33508850		2203	4300	6503	SO:0001587	stop_gained	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1185G>A	20.37:g.33508850G>A	ENSP00000353804:p.Trp395*		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W408*	ENST00000360596.2	37	c.1224	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	38	7.133839	0.98085	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1143	19.6556	0.95837	0.0:0.0:1.0:0.0	.	.	.	.	X	345;395;393;103;408	.	ENSP00000253382:W408X	W	+	3	0	ACSS2	32972511	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	9.657000	0.98554	2.882000	0.98803	0.655000	0.94253	TGG	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.512	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	-	0	44	0	G	NM_018677		33508850	1	tier1	-	no_errors	ENST00000253382	ensembl	human	known	74_37	nonsense	32.65	33	16	SNP	1.000	A	A	33508850	G	A	33508850	4	1	106	1	0	0	0	0	0	1	0	0	189	1183	41	3	1266	3	ACSS2	20	33508850	Nonsense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	420	33508850	29516670	166	29390			2	29		6	6	1229	G		1.748658e-13
ACSS2	55902	genome.wustl.edu	37	chr20	33509173	33509173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgttaggcacagtgggtGaacccatcaaccctgaggcc	10	7	13	11	0	1	2	1	2	0	0	1	2	1	2	3	4	2	2	3	4	3	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:33509173G>A	ENST00000360596.2	+	11	1529	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.E390K|ACSS2_ENST00000253382.5_Missense_Mutation_p.E453K	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	440					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACAGTGGGTGAACCCATCAA	0.592																																																	0													71	72	71					20																	33509173		2203	4300	6503	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1318G>A	20.37:g.33509173G>A	ENSP00000353804:p.Glu440Lys		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E453K	ENST00000360596.2	37	c.1357	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.438926	0.96168	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.58358	0.34;2.4;2.4	5.52	5.52	0.82312	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.82958	0.5150	H	0.96633	3.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87980	0.2742	10	0.87932	D	0	-11.0455	19.6361	0.95733	0.0:0.0:1.0:0.0	.	453;440	Q5QPH3;Q9NR19	.;ACSA_HUMAN	K	390;440;438;148;453	ENSP00000337190:E390K;ENSP00000353804:E440K;ENSP00000253382:E453K	ENSP00000253382:E453K	E	+	1	0	ACSS2	32972834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.878000	0.98634	0.650000	0.86243	GAA	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.592	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	-	0	30	0	G	NM_018677		33509173	1	tier1	-	no_errors	ENST00000253382	ensembl	human	known	74_37	missense	27.78	39	15	SNP	1.000	A	A	33509173	G	A	33509173	3	1	106	1	0	0	0	0	1	0	0	0	189	1291	45	3	1403	3	ACSS2	20	33509173	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	323	33509173	29516347	167	29391			2	29		6	6	1229	G		1.748658e-13
ACSS2	55902	genome.wustl.edu	37	chr20	33509628	33509628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagctcctgcaatcctgaatGagtccggggaagagttggaa	11	9	13	8	1	0	3	0	2	0	1	3	5	3	5	3	3	2	3	3	3	5	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:33509628G>A	ENST00000360596.2	+	13	1718	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.E453K|ACSS2_ENST00000253382.5_Missense_Mutation_p.E516K	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	503					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AATCCTGAATGAGTCCGGGGA	0.522																																																	0													298	297	298					20																	33509628		2203	4300	6503	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1507G>A	20.37:g.33509628G>A	ENSP00000353804:p.Glu503Lys		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E516K	ENST00000360596.2	37	c.1546	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379579	0.82682	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.44881	0.91;2.68;2.68	5.37	5.37	0.77165	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	M	0.81239	2.535	0.80722	D	1	B;B	0.32324	0.364;0.364	B;B	0.42692	0.223;0.395	T	0.57021	-0.7882	10	0.40728	T	0.16	-24.9876	19.3116	0.94189	0.0:0.0:1.0:0.0	.	516;503	Q5QPH3;Q9NR19	.;ACSA_HUMAN	K	453;503;501;211;516	ENSP00000337190:E453K;ENSP00000353804:E503K;ENSP00000253382:E516K	ENSP00000253382:E516K	E	+	1	0	ACSS2	32973289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.601000	0.98297	2.808000	0.96608	0.650000	0.86243	GAG	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.522	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	-	0	83	0	G	NM_018677		33509628	1	tier1	-	no_errors	ENST00000253382	ensembl	human	known	74_37	missense	43.48	65	50	SNP	1.000	A	A	33509628	G	A	33509628	3	1	106	1	0	0	0	0	1	0	0	0	189	1291	45	3	1600	3	ACSS2	20	33509628	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	455	33509628	29515892	168	29392			2	29		6	6	1229	G		1.748658e-13
ACSS2	55902	genome.wustl.edu	37	chr20	33509640	33509640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgaatgagtccggggaaGagttggaaggtgaagctgaa	12	8	16	5	1	0	5	0	4	0	1	2	7	2	7	2	4	1	2	2	4	5	1	rs372652815		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:33509640G>A	ENST00000360596.2	+	13	1730	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.E457K|ACSS2_ENST00000253382.5_Missense_Mutation_p.E520K	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	507					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTCCGGGGAAGAGTTGGAAGG	0.507																																																	0								G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	276	274	275		1558,1234,1519	5.4	1	20		275	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ACSS2	NM_001076552.2,NM_001242393.1,NM_018677.3	56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	520/715,412/607,507/702	33509640	1,13005	2203	4300	6503	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1519G>A	20.37:g.33509640G>A	ENSP00000353804:p.Glu507Lys		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E520K	ENST00000360596.2	37	c.1558	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743360	0.89663	0.0	1.16E-4	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.52295	0.67;2.74;2.74	5.37	5.37	0.77165	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.71600	0.3359	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.969	T	0.68228	-0.5464	10	0.23891	T	0.37	-15.0705	19.3116	0.94189	0.0:0.0:1.0:0.0	.	520;507	Q5QPH3;Q9NR19	.;ACSA_HUMAN	K	457;507;505;215;520	ENSP00000337190:E457K;ENSP00000353804:E507K;ENSP00000253382:E520K	ENSP00000253382:E520K	E	+	1	0	ACSS2	32973301	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.601000	0.98297	2.808000	0.96608	0.650000	0.86243	GAG	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.507	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	-	0	87	0	G	NM_018677		33509640	1	tier1	-	no_errors	ENST00000253382	ensembl	human	known	74_37	missense	43.12	62	47	SNP	1.000	A	A	33509640	G	A	33509640	3	1	106	1	0	0	0	0	1	0	0	0	189	943	33	3	1612	3	ACSS2	20	33509640	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	12	33509640	29515880	169	29393			2	29		6	6	1229	G		1.748658e-13
ACSS2	55902	genome.wustl.edu	37	chr20	33509658	33509658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagttggaaggtgaagctGaaggttatctggtgaggccc	11	9	16	5	0	1	4	0	3	1	1	1	5	1	5	1	5	1	3	1	5	5	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:33509658G>A	ENST00000360596.2	+	13	1748	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.E463K|ACSS2_ENST00000253382.5_Missense_Mutation_p.E526K	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	513					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTGAAGCTGAAGGTTATCT	0.488																																																	0													235	234	235					20																	33509658		2203	4300	6503	SO:0001583	missense	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"Acyl-CoA synthetase family"	15814	protein-coding gene	gene with protein product		605832	"acetyl-Coenzyme A synthetase 2 (ADP forming)"	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1537G>A	20.37:g.33509658G>A	ENSP00000353804:p.Glu513Lys		A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E526K	ENST00000360596.2	37	c.1576	CCDS13243.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.417585	0.96092	.	.	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.40225	1.04;1.04;1.04	5.37	5.37	0.77165	AMP-dependent synthetase/ligase (1);	0.046985	0.85682	D	0.000000	T	0.63283	0.2498	M	0.68728	2.09	0.80722	D	1	P;P	0.44195	0.828;0.828	P;P	0.59357	0.777;0.856	T	0.63699	-0.6578	10	0.87932	D	0	-14.2892	19.3116	0.94189	0.0:0.0:1.0:0.0	.	526;513	Q5QPH3;Q9NR19	.;ACSA_HUMAN	K	463;513;511;221;526	ENSP00000337190:E463K;ENSP00000353804:E513K;ENSP00000253382:E526K	ENSP00000253382:E526K	E	+	1	0	ACSS2	32973319	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.808000	0.96608	0.650000	0.86243	GAA	ACSS2	-	pfam_AMP-dep_Synth/Lig	ENSG00000131069		0.488	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	-	0	87	0	G	NM_018677		33509658	1	tier1	-	no_errors	ENST00000253382	ensembl	human	known	74_37	missense	41.18	60	42	SNP	1.000	A	A	33509658	G	A	33509658	3	1	106	1	0	0	0	0	1	0	0	0	189	1291	45	3	1630	3	ACSS2	20	33509658	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	18	33509658	29515862	170	29394			2	29		6	6	1229	G		1.748658e-13
SLA2	84174	genome.wustl.edu	37	chr20	35242308	35242308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcctcgtcattcaggctGatgtagaagctgagggactc	10	9	12	10	1	2	3	2	2	0	1	4	4	2	4	1	2	2	3	1	2	2	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:35242308G>C	ENST00000262866.4	-	8	1169	c.747C>G	c.(745-747)atC>atG	p.I249M	SLA2_ENST00000360672.2_3'UTR	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	249	SLA C-terminal.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CATTCAGGCTGATGTAGAAGC	0.542																																					Ovarian(59;720 1165 26994 46188 51693)												0													79	73	75					20																	35242308		2203	4300	6503	SO:0001583	missense	0			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.747C>G	20.37:g.35242308G>C	ENSP00000262866:p.Ile249Met		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.I249M	ENST00000262866.4	37	c.747	CCDS13282.1	20	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987112	0.35036	.	.	ENSG00000101082	ENST00000262866	T	0.78816	-1.21	5.35	3.38	0.38709	.	0.293591	0.37577	N	0.002039	T	0.67458	0.2895	L	0.42245	1.32	0.80722	D	1	B	0.18013	0.025	B	0.18263	0.021	T	0.62651	-0.6809	10	0.46703	T	0.11	-11.2037	7.7637	0.28968	0.0866:0.1623:0.7511:0.0	.	249	Q9H6Q3	SLAP2_HUMAN	M	249	ENSP00000262866:I249M	ENSP00000262866:I249M	I	-	3	3	SLA2	34675722	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.240000	0.32731	0.915000	0.36847	0.655000	0.94253	ATC	SLA2	-	NULL	ENSG00000101082		0.542	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA2	HGNC	protein_coding	OTTHUMT00000079037.2	-	0	40	0	G	NM_175077		35242308	-1	tier1	-	no_errors	ENST00000262866	ensembl	human	known	74_37	missense	37.10	39	23	SNP	1.000	C	C	35242308	G	C	35242308	3	2	106	1	0	0	0	0	1	0	0	0	14409	1280	45	5	42	5	SLA2	20	35242308	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	1732650	35242308	27783212	171	29395			3	30	1732650	5	5	517	G		3.71473e-12
SLA2	84174	genome.wustl.edu	37	chr20	35242375	35242375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccctgtggcagcttcaGaaaacaggagggagctgtgg	9	7	14	11	0	1	1	1	0	0	1	2	3	2	3	3	4	3	3	3	4	2	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:35242375G>C	ENST00000262866.4	-	8	1102	c.680C>G	c.(679-681)tCt>tGt	p.S227C	SLA2_ENST00000360672.2_Missense_Mutation_p.F210L	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	227	SLA C-terminal.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGCAGCTTCAGAAAACAGGAG	0.502																																					Ovarian(59;720 1165 26994 46188 51693)												0													67	65	66					20																	35242375		2203	4300	6503	SO:0001583	missense	0			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.680C>G	20.37:g.35242375G>C	ENSP00000262866:p.Ser227Cys		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.S227C	ENST00000262866.4	37	c.680	CCDS13282.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.885|8.885	0.952692|0.952692	0.18431|0.18431	.|.	.|.	ENSG00000101082|ENSG00000101082	ENST00000360672|ENST00000262866	T|T	0.73681|0.79247	-0.77|-1.25	5.11|5.11	2.67|2.67	0.31697|0.31697	.|.	.|1.366640	.|0.04347	.|N	.|0.355095	T|T	0.78559|0.78559	0.4302|0.4302	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|D	0.02656|0.59357	0.0|0.985	B|P	0.04013|0.50490	0.001|0.642	T|T	0.61496|0.61496	-0.7051|-0.7051	8|9	0.87932|0.72032	D|D	0|0.01	1.2618|1.2618	5.0814|5.0814	0.14659|0.14659	0.1487:0.1916:0.6597:0.0|0.1487:0.1916:0.6597:0.0	.|.	210|227	Q9H6Q3-2|Q9H6Q3	.|SLAP2_HUMAN	L|C	210|227	ENSP00000353890:F210L|ENSP00000262866:S227C	ENSP00000353890:F210L|ENSP00000262866:S227C	F|S	-|-	3|2	2|0	SLA2|SLA2	34675789|34675789	0.459000|0.459000	0.25768|0.25768	0.014000|0.014000	0.15608|0.15608	0.832000|0.832000	0.47134|0.47134	1.983000|1.983000	0.40648|0.40648	0.571000|0.571000	0.29365|0.29365	0.655000|0.655000	0.94253|0.94253	TTC|TCT	SLA2	-	NULL	ENSG00000101082		0.502	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA2	HGNC	protein_coding	OTTHUMT00000079037.2	-	0	39	0	G	NM_175077		35242375	-1	tier1	-	no_errors	ENST00000262866	ensembl	human	known	74_37	missense	22.50	31	9	SNP	0.029	C	C	35242375	G	C	35242375	3	2	106	1	0	0	0	0	1	0	0	0	14409	942	33	5	109	5	SLA2	20	35242375	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	67	35242375	27783145	172	29396			3	30	1732650	5	5	517	G		3.71473e-12
SLA2	84174	genome.wustl.edu	37	chr20	35242776	35242776	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggggtatatccttgccaggGagcgggccagccctctgcag	7	7	15	12	1	1	0	0	0	1	0	2	1	2	1	4	4	4	2	4	4	2	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:35242776G>C	ENST00000262866.4	-	7	1019	c.597C>G	c.(595-597)ctC>ctG	p.L199L	SLA2_ENST00000360672.2_Missense_Mutation_p.P183A	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	199	SLA C-terminal.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCTTGCCAGGGAGCGGGCCAG	0.562																																					Ovarian(59;720 1165 26994 46188 51693)												0													136	126	129					20																	35242776		2203	4300	6503	SO:0001819	synonymous_variant	0			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.597C>G	20.37:g.35242776G>C			A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.P183A	ENST00000262866.4	37	c.547	CCDS13282.1	20	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002209	0.35320	.	.	ENSG00000101082	ENST00000360672	T	0.74106	-0.81	5.43	-0.479	0.12089	.	.	.	.	.	T	0.58906	0.2155	.	.	.	0.09310	N	1	B	0.30914	0.3	B	0.27608	0.081	T	0.52162	-0.8612	8	0.87932	D	0	-0.457	4.6846	0.12752	0.3974:0.0:0.4502:0.1524	.	183	Q9H6Q3-2	.	A	183	ENSP00000353890:P183A	ENSP00000353890:P183A	P	-	1	0	SLA2	34676190	0.003000	0.15002	0.190000	0.23270	0.873000	0.50193	-0.181000	0.09740	0.060000	0.16281	0.655000	0.94253	CCC	SLA2	-	NULL	ENSG00000101082		0.562	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA2	HGNC	protein_coding	OTTHUMT00000079037.2	-	0	72	0	G	NM_175077		35242776	-1	tier1	-	no_errors	ENST00000360672	ensembl	human	known	74_37	missense	25.86	86	30	SNP	0.056	C	C	35242776	G	C	35242776	2	2	106	1	0	0	0	0	0	0	0	1	14409	1174	41	5		5	SLA2	20	35242776	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	401	35242776	27782744	173	29397			3	30	1732650	5	5	517	G		3.71473e-12
SLA2	84174	genome.wustl.edu	37	chr20	35242812	35242812	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggacacagggctccttGagtaggcagcagatgtcatc	10	8	13	10	0	1	2	1	1	0	1	3	3	2	3	1	3	2	5	1	3	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:35242812G>C	ENST00000262866.4	-	7	983	c.561C>G	c.(559-561)ctC>ctG	p.L187L	SLA2_ENST00000360672.2_Intron	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	187	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)	p.L187L(1)		endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGGCTCCTTGAGTAGGCAGC	0.587																																					Ovarian(59;720 1165 26994 46188 51693)												1	Substitution - coding silent(1)	endometrium(1)											112	100	104					20																	35242812		2203	4300	6503	SO:0001819	synonymous_variant	0			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.561C>G	20.37:g.35242812G>C			A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Silent	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.L187	ENST00000262866.4	37	c.561	CCDS13282.1	20																																																																																			SLA2	-	pfscan_SH2	ENSG00000101082		0.587	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA2	HGNC	protein_coding	OTTHUMT00000079037.2	-	0	61	0	G	NM_175077		35242812	-1	tier1	-	no_errors	ENST00000262866	ensembl	human	known	74_37	silent	27.06	62	23	SNP	0.996	C	C	35242812	G	C	35242812	2	2	106	1	0	0	0	0	0	0	0	1	14409	1277	45	5		5	SLA2	20	35242812	Silent	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	36	35242812	27782708	174	29398			3	30	1732650	5	5	517	G		3.71473e-12
SLA2	84174	genome.wustl.edu	37	chr20	35242824	35242824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccttgagtaggcagcaGatgtcatccgccagctctga	8	9	12	12	1	2	3	1	2	1	1	4	3	4	3	3	2	2	5	3	2	1	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:35242824G>C	ENST00000262866.4	-	7	971	c.549C>G	c.(547-549)atC>atG	p.I183M	SLA2_ENST00000360672.2_Intron	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	183	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTAGGCAGCAGATGTCATCCG	0.592																																					Ovarian(59;720 1165 26994 46188 51693)												0													104	92	96					20																	35242824		2203	4300	6503	SO:0001583	missense	0			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"SH2 domain containing"	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.549C>G	20.37:g.35242824G>C	ENSP00000262866:p.Ile183Met		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Missense_Mutation	SNP	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.I183M	ENST00000262866.4	37	c.549	CCDS13282.1	20	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451269	0.63290	.	.	ENSG00000101082	ENST00000262866	T	0.31510	1.49	5.43	4.45	0.53987	SH2 motif (2);	0.138874	0.49305	D	0.000141	T	0.34629	0.0904	L	0.39326	1.205	0.80722	D	1	P	0.51057	0.941	P	0.54460	0.753	T	0.14615	-1.0466	10	0.87932	D	0	-24.6991	6.5218	0.22279	0.0879:0.0:0.7308:0.1812	.	183	Q9H6Q3	SLAP2_HUMAN	M	183	ENSP00000262866:I183M	ENSP00000262866:I183M	I	-	3	3	SLA2	34676238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.105000	0.31086	1.454000	0.47793	0.655000	0.94253	ATC	SLA2	-	pfscan_SH2	ENSG00000101082		0.592	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA2	HGNC	protein_coding	OTTHUMT00000079037.2	-	0	59	0	G	NM_175077		35242824	-1	tier1	-	no_errors	ENST00000262866	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	C	C	35242824	G	C	35242824	3	2	106	1	0	0	0	0	1	0	0	0	14409	932	33	5	244	5	SLA2	20	35242824	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	12	35242824	27782696	175	29399			3	30	1732650	5	5	517	G		3.71473e-12
SLC12A5	57468	genome.wustl.edu	37	chr20	44674582	44674582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgactgcctgcatctgCgagattggcatcctcattgc	6	12	9	14	1	2	2	1	1	1	1	4	3	4	2	3	1	4	2	3	1	0	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr20:44674582C>T	ENST00000454036.2	+	13	1753	c.1704C>T	c.(1702-1704)tgC>tgT	p.C568C	SLC12A5_ENST00000243964.3_Silent_p.C545C	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	568					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCATCTGCGAGATTGGCA	0.592																																																	0													141	120	127					20																	44674582		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"Solute carriers"	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1704C>T	20.37:g.44674582C>T			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.C568	ENST00000454036.2	37	c.1704	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.592	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0	37	0	C			44674582	1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	34.57	53	28	SNP	0.885	T	T	44674582	C	T	44674582	2	4	106	1	0	0	0	0	0	0	0	1	14431	776	27	1		1	SLC12A5	20	44674582	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	9431758	44674582	18350938	176	29400											
APOL4	80832	genome.wustl.edu	37	chr22	36587208	36587208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactgcctcagcgactcaGcagactcggattttgccccc	7	8	8	18	2	2	1	2	0	0	1	3	3	2	2	4	1	4	1	4	1	0	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr22:36587208G>T	ENST00000352371.1	-	6	1192	c.968C>A	c.(967-969)gCt>gAt	p.A323D	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000332987.1_Missense_Mutation_p.A320D			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	324					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	extracellular space (GO:0005615)	lipid binding (GO:0008289)			lung(1)	1						CAGCGACTCAGCAGACTCGGA	0.537																																																	0													25	27	26					22																	36587208		2059	4231	6290	SO:0001583	missense	0			AF305226	CCDS74851.1, CCDS74852.1	22q11.2-q13.2	2013-01-24			ENSG00000100336	ENSG00000100336		"Apolipoproteins"	14867	protein-coding gene	gene with protein product		607254				11374903	Standard	NM_030643		Approved	APOLIV	uc003aox.3	Q9BPW4	OTTHUMG00000150630	ENST00000352371.1:c.968C>A	22.37:g.36587208G>T	ENSP00000338260:p.Ala323Asp		Q9BQ37|Q9BXQ8	Missense_Mutation	SNP	pfam_ApoL	p.A323D	ENST00000352371.1	37	c.968		22	.	.	.	.	.	.	.	.	.	.	g	12.60	1.987293	0.35036	.	.	ENSG00000100336	ENST00000352371;ENST00000332987	T;T	0.15603	2.41;2.41	2.2	1.1	0.20463	.	0.145437	0.46442	D	0.000281	T	0.37598	0.1009	M	0.83312	2.635	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.07462	-1.0771	10	0.87932	D	0	.	6.5006	0.22166	0.0:0.3061:0.6939:0.0	.	324;320	Q9BPW4;Q9BPW4-3	APOL4_HUMAN;.	D	323;320	ENSP00000338260:A323D;ENSP00000333229:A320D	ENSP00000333229:A320D	A	-	2	0	APOL4	34917154	0.052000	0.20516	0.007000	0.13788	0.003000	0.03518	1.557000	0.36299	0.444000	0.26612	0.407000	0.27541	GCT	APOL4	-	pfam_ApoL	ENSG00000100336		0.537	APOL4-203	KNOWN	basic|appris_candidate_longest	protein_coding	APOL4	HGNC	protein_coding		-	0	46	0	G	NM_145660		36587208	-1	tier1	-	no_errors	ENST00000352371	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.007	T	T	36587208	G	T	36587208	3	4	106	1	0	0	0	0	1	0	0	0	808	963	34	3	88	3	APOL4	22	36587208	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		36587208	14717358	177	29401											
ZC3H7B	23264	genome.wustl.edu	37	chr22	41723332	41723332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacgccacaaggaggcctaCgagtgcagcagccggtgttc	9	5	15	12	3	0	0	0	0	0	0	1	3	0	2	3	4	4	3	3	4	2	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr22:41723332C>T	ENST00000352645.4	+	5	665	c.408C>T	c.(406-408)taC>taT	p.Y136Y	ZC3H7B_ENST00000351589.4_Silent_p.Y136Y	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	136					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGGAGGCCTACGAGTGCAGCA	0.662																																																	0													118	98	105					22																	41723332		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"Zinc fingers, CCCH-type domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.408C>T	22.37:g.41723332C>T			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y136	ENST00000352645.4	37	c.408	CCDS14013.1	22																																																																																			ZC3H7B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000100403		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	-	0	63	0	C	NM_017590		41723332	1	tier1	-	no_errors	ENST00000351589	ensembl	human	known	74_37	silent	6.45	58	4	SNP	0.993	T	T	41723332	C	T	41723332	2	4	106	1	0	0	0	0	0	0	0	1	17621	547	19	1		1	ZC3H7B	22	41723332	Silent	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	5136124	41723332	9581234	178	29402											
ATXN10	25814	genome.wustl.edu	37	chr22	46098580	46098580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttggaaggtcttgcttaaAtcatccggacaaaaaaattg	14	12	9	6	1	2	0	1	0	1	0	3	2	3	2	1	3	1	2	1	3	6	4			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr22:46098580A>G	ENST00000252934.5	+	5	765	c.500A>G	c.(499-501)aAt>aGt	p.N167S	ATXN10_ENST00000381061.4_Missense_Mutation_p.N103S|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	167					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TCTTGCTTAAATCATCCGGAC	0.328																																																	0													95	87	90					22																	46098580		2203	4300	6503	SO:0001583	missense	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.500A>G	22.37:g.46098580A>G	ENSP00000252934:p.Asn167Ser		A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain,superfamily_ARM-type_fold	p.N167S	ENST00000252934.5	37	c.500	CCDS14070.1	22	.	.	.	.	.	.	.	.	.	.	A	2.951	-0.216639	0.06101	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.46451	0.87;0.87	5.9	4.82	0.62117	Armadillo-like helical (1);Armadillo-type fold (1);	0.606738	0.18905	N	0.127938	T	0.13586	0.0329	N	0.03608	-0.345	0.24009	N	0.996187	B;B	0.24132	0.098;0.098	B;B	0.14023	0.01;0.01	T	0.26467	-1.0102	10	0.08599	T	0.76	-7.5395	1.1071	0.01696	0.499:0.2118:0.1164:0.1728	.	103;167	A6NLC4;Q9UBB4	.;ATX10_HUMAN	S	103;167;167	ENSP00000370449:N103S;ENSP00000252934:N167S	ENSP00000252934:N167S	N	+	2	0	ATXN10	44477244	0.449000	0.25689	0.998000	0.56505	0.986000	0.74619	0.690000	0.25451	2.259000	0.74868	0.482000	0.46254	AAT	ATXN10	-	superfamily_ARM-type_fold	ENSG00000130638		0.328	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	-	0	124	0	A	NM_013236		46098580	1	tier1	-	no_errors	ENST00000252934	ensembl	human	known	74_37	missense	41.72	95	68	SNP	0.497	G	G	46098580	A	G	46098580	3	3	106	1	0	0	0	0	1	0	0	0	1211	101	4	4	518	4	ATXN10	22	46098580	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	4375248	46098580	5205986	179	29403											
ZBED4	9889	genome.wustl.edu	37	chr22	50279480	50279480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcccaccttaaggaagctGagagtggtgtgatccacttc	9	11	11	10	0	0	2	0	2	0	1	3	4	2	3	3	2	1	1	3	2	2	2			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chr22:50279480G>A	ENST00000216268.5	+	2	2647	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	724						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TAAGGAAGCTGAGAGTGGTGT	0.522																																																	0													74	75	75					22																	50279480		2203	4300	6503	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.2170G>A	22.37:g.50279480G>A	ENSP00000216268:p.Glu724Lys		B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.E724K	ENST00000216268.5	37	c.2170	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289122	0.80914	.	.	ENSG00000100426	ENST00000216268	T	0.45668	0.89	5.43	5.43	0.79202	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	L	0.58428	1.81	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.59080	-0.7521	10	0.40728	T	0.16	-36.6208	19.239	0.93875	0.0:0.0:1.0:0.0	.	724	O75132	ZBED4_HUMAN	K	724	ENSP00000216268:E724K	ENSP00000216268:E724K	E	+	1	0	ZBED4	48665484	1.000000	0.71417	0.944000	0.38274	0.852000	0.48524	9.312000	0.96287	2.533000	0.85409	0.561000	0.74099	GAG	ZBED4	-	superfamily_RNaseH-like_dom	ENSG00000100426		0.522	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	-	0	31	0	G	NM_014838		50279480	1	tier1	-	no_errors	ENST00000216268	ensembl	human	known	74_37	missense	44.74	21	17	SNP	1.000	A	A	50279480	G	A	50279480	3	1	106	1	0	0	0	0	1	0	0	0	17568	1291	45	3	2172	3	ZBED4	22	50279480	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09	4180900	50279480	1025086	180	29404											
ASMT	438	genome.wustl.edu	37	chrX	1743287	1743287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccacctggcagacgccGtgaggtgggggctgccccca	5	4	18	14	2	0	2	0	1	0	1	0	2	0	2	5	6	1	2	5	6	0	0			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chrX:1743287G>A	ENST00000381229.4	+	3	406	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	ASMT_ENST00000381233.3_Missense_Mutation_p.V124M|ASMT_ENST00000381241.3_Missense_Mutation_p.V124M			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	124					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGCAGACGCCGTGAGGTGGGG	0.677													g|||	1	0.000199681	0	0	5008	,	,		18508	0.001		0	False		,,,				2504	0																0													73	67	69					X																	1743287		2203	4296	6499	SO:0001583	missense	0			M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"Pseudoautosomal regions / PAR1"	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.370G>A	X.37:g.1743287G>A	ENSP00000370627:p.Val124Met		B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	pfam_O_MeTrfase_2,pirsf_COMT	p.V124M	ENST00000381229.4	37	c.370		X	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	13.19	2.164190	0.38217	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.31510	1.49;1.49;2.0	2.09	1.11	0.20524	.	0.167807	0.38605	U	0.001625	T	0.50871	0.1641	M	0.82323	2.585	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.985;0.989	T	0.27468	-1.0073	10	0.87932	D	0	.	6.5326	0.22336	0.3023:0.0:0.6977:0.0	.	124;124	P46597-2;P46597-3	.;.	M	124	ENSP00000370639:V124M;ENSP00000370627:V124M;ENSP00000370631:V124M	ENSP00000370627:V124M	V	+	1	0	ASMT	1703287	0.952000	0.32445	0.030000	0.17652	0.026000	0.11368	1.393000	0.34497	0.831000	0.34780	0.415000	0.27848	GTG	ASMT	-	pfam_O_MeTrfase_2,pirsf_COMT	ENSG00000196433		0.677	ASMT-002	KNOWN	basic|appris_principal	protein_coding	ASMT	HGNC	protein_coding	OTTHUMT00000055612.1	-	0	55	0	G	NM_004043		1743287	1	tier1	-	no_errors	ENST00000381241	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.999	A	A	1743287	G	A	1743287	3	1	106	1	0	0	0	0	1	0	0	0	1046	1145	40	1	380	1	ASMT	23	1743287	Missense_Mutation	SNP	G	TCGA-LN-A49U-01A-31D-A27G-09		1743287	153527273	181	29405											
ZNF81	347344	genome.wustl.edu	37	chrX	47775250	47775250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccctgaactcagccctcaAtatacatcagaaaattcaca	15	9	3	14	0	4	2	4	1	0	1	5	2	5	2	2	0	3	0	2	0	6	3			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chrX:47775250A>G	ENST00000376954.1	+	6	1573	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	ZNF81_ENST00000338637.7_Missense_Mutation_p.N402S			P51508	ZNF81_HUMAN	zinc finger protein 81	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAGCCCTCAATATACATCAG	0.428																																																	0													50	49	49					X																	47775250		2194	4297	6491	SO:0001583	missense	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"Zinc fingers, C2H2-type", "-"	13156	protein-coding gene	gene with protein product		314998	"zinc finger protein 81 (HFZ20)", "mental retardation, X-linked 45"	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1205A>G	X.37:g.47775250A>G	ENSP00000366153:p.Asn402Ser		Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N402S	ENST00000376954.1	37	c.1205	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	a	0.026	-1.373114	0.01214	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.17054	2.3;2.3	4.16	-7.87	0.01183	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.798861	0.10893	N	0.622444	T	0.07369	0.0186	N	0.12569	0.235	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31641	-0.9936	10	0.29301	T	0.29	.	10.8325	0.46669	0.1812:0.2366:0.5822:0.0	.	402	P51508	ZNF81_HUMAN	S	402	ENSP00000366153:N402S;ENSP00000341151:N402S	ENSP00000341151:N402S	N	+	2	0	ZNF81	47660194	0.000000	0.05858	0.122000	0.21767	0.972000	0.66771	-0.879000	0.04188	-2.083000	0.00867	-1.191000	0.01696	AAT	ZNF81	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197779		0.428	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	-	0	20	0	A	NM_007137		47775250	1	tier1	-	no_errors	ENST00000338637	ensembl	human	known	74_37	missense	87.50	3	21	SNP	0.002	G	G	47775250	A	G	47775250	3	3	106	1	0	0	0	0	1	0	0	0	18222	101	4	4	1219	4	ZNF81	23	47775250	Missense_Mutation	SNP	A	TCGA-LN-A49U-01A-31D-A27G-09	46031963	47775250	107495310	182	29406											
ARHGAP36	158763	genome.wustl.edu	37	chrX	130222715	130222715	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattgctccgtgtgcccCgggagaaggaggccaaaact	9	6	13	13	2	0	1	0	0	0	1	1	3	1	2	5	3	3	1	5	3	3	1	rs371342192		TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chrX:130222715C>G	ENST00000276211.5	+	12	1945	c.1600C>G	c.(1600-1602)Cgg>Ggg	p.R534G	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R398G|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R522G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	534					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCGTGTGCCCCGGGAGAAGGA	0.582																																																	0													76	71	73					X																	130222715		2203	4300	6503	SO:0001583	missense	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"Rho GTPase activating proteins"	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1600C>G	X.37:g.130222715C>G	ENSP00000276211:p.Arg534Gly		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R534G	ENST00000276211.5	37	c.1600	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737867	0.49045	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.14391	2.51;2.53;2.54;2.52	4.31	3.45	0.39498	.	0.723816	0.12029	N	0.506195	T	0.06917	0.0176	N	0.08118	0	0.26233	N	0.978983	B;P;B	0.35226	0.275;0.491;0.358	B;B;B	0.32211	0.092;0.142;0.042	T	0.22977	-1.0201	10	0.87932	D	0	.	7.0	0.24805	0.0:0.8766:0.0:0.1234	.	503;522;534	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	G	534;522;503;398	ENSP00000276211:R534G;ENSP00000359960:R522G;ENSP00000408515:R503G;ENSP00000359959:R398G	ENSP00000276211:R534G	R	+	1	2	ARHGAP36	130050396	0.998000	0.40836	1.000000	0.80357	0.983000	0.72400	1.015000	0.29963	1.163000	0.42636	0.600000	0.82982	CGG	ARHGAP36	-	NULL	ENSG00000147256		0.582	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	-	0	21	0	C	NM_144967		130222715	1	tier1	-	no_errors	ENST00000276211	ensembl	human	known	74_37	missense	79.41	7	27	SNP	1.000	G	G	130222715	C	G	130222715	3	3	106	1	0	0	0	0	1	0	0	0	883	643	23	5	1642	5	ARHGAP36	23	130222715	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	82447465	130222715	25047845	183	29407											
DNASE1L1	1774	genome.wustl.edu	37	chrX	153631450	153631450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacccagtggaagcctggctCagtccgcagctccagcttgt	7	8	11	15	1	1	0	1	0	0	0	3	1	3	1	4	2	3	4	4	2	1	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chrX:153631450C>T	ENST00000393638.1	-	7	893	c.607G>A	c.(607-609)Gag>Aag	p.E203K	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Missense_Mutation_p.E203K	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	203					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGCCTGGCTCAGTCCGCAGC	0.617																																																	0													55	54	54					X																	153631450		2203	4300	6503	SO:0001583	missense	0			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.607G>A	X.37:g.153631450C>T	ENSP00000377255:p.Glu203Lys		D3DWW7|Q5HY41	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.E203K	ENST00000393638.1	37	c.607	CCDS14747.1	X	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105338	0.20632	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865	T;T;T;T;T;T;T	0.41758	1.41;1.41;1.41;1.41;1.41;1.41;0.99	5.11	-1.49	0.08718	Endonuclease/exonuclease/phosphatase (2);	1.045490	0.07458	N	0.900100	T	0.24547	0.0595	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.25916	-1.0118	10	0.24483	T	0.36	-13.6477	6.5877	0.22630	0.0:0.3402:0.3746:0.2852	.	203	P49184	DNSL1_HUMAN	K	203	ENSP00000358824:E203K;ENSP00000377255:E203K;ENSP00000014935:E203K;ENSP00000358823:E203K;ENSP00000358822:E203K;ENSP00000309168:E203K;ENSP00000393346:E203K	ENSP00000014935:E203K	E	-	1	0	DNASE1L1	153284644	0.000000	0.05858	0.001000	0.08648	0.276000	0.26787	-0.517000	0.06275	0.029000	0.15352	0.597000	0.82753	GAG	DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	ENSG00000013563		0.617	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	-	0	30	0	C			153631450	-1	tier1	-	no_errors	ENST00000014935	ensembl	human	known	74_37	missense	65.12	15	28	SNP	0.000	T	T	153631450	C	T	153631450	3	4	106	1	0	0	0	0	1	0	0	0	4675	835	29	3	309	3	DNASE1L1	23	153631450	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	23408735	153631450	1639110	184	29408											
DNASE1L1	1774	genome.wustl.edu	37	chrX	153633251	153633251	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgtagggcccagagccatCaaatctgccaagaaaagggg	13	5	13	10	0	2	2	1	0	1	2	2	2	2	2	3	3	2	2	3	3	5	1			TCGA-LN-A49U-01A-31D-A27G-09	TCGA-LN-A49U-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	93ad526c-d7d9-4e57-813e-81fe8e061d0b	c374778c-bec4-4e10-80b1-441d101dae87	g.chrX:153633251C>G	ENST00000393638.1	-	4	515	c.229G>C	c.(229-231)Gat>Cat	p.D77H	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.D77H	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	77					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)	p.D77H(1)		lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAGAGCCATCAAATCTGCCA	0.587																																																	1	Substitution - Missense(1)	lung(1)											38	36	37					X																	153633251		2202	4300	6502	SO:0001583	missense	0			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"DNase X"	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.229G>C	X.37:g.153633251C>G	ENSP00000377255:p.Asp77His		D3DWW7|Q5HY41	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	p.D77H	ENST00000393638.1	37	c.229	CCDS14747.1	X	.	.	.	.	.	.	.	.	.	.	C	4.642	0.119306	0.08881	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000451865;ENST00000424626	T;T;T;T;T;T;T;T	0.81247	0.73;0.73;0.73;0.73;0.73;0.73;-1.47;1.49	4.31	2.44	0.29823	Endonuclease/exonuclease/phosphatase (2);	0.368951	0.26563	U	0.023677	T	0.74382	0.3709	M	0.70595	2.14	0.09310	N	1	B	0.24258	0.1	B	0.24701	0.055	T	0.64495	-0.6394	10	0.44086	T	0.13	-10.9502	3.9648	0.09426	0.2374:0.6347:0.0:0.1279	.	77	P49184	DNSL1_HUMAN	H	77	ENSP00000358824:D77H;ENSP00000377255:D77H;ENSP00000014935:D77H;ENSP00000358823:D77H;ENSP00000358822:D77H;ENSP00000309168:D77H;ENSP00000393346:D77H;ENSP00000393000:D77H	ENSP00000014935:D77H	D	-	1	0	DNASE1L1	153286445	0.000000	0.05858	0.091000	0.20842	0.151000	0.21798	0.976000	0.29462	0.613000	0.30089	0.456000	0.33151	GAT	DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I	ENSG00000013563		0.587	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	-	0	36	0	C			153633251	-1	tier1	-	no_errors	ENST00000014935	ensembl	human	known	74_37	missense	71.43	18	45	SNP	0.017	G	G	153633251	C	G	153633251	3	3	106	1	0	0	0	0	1	0	0	0	4675	826	29	5	699	5	DNASE1L1	23	153633251	Missense_Mutation	SNP	C	TCGA-LN-A49U-01A-31D-A27G-09	1801	153633251	1637309	185	29409											
PRDM2	7799	genome.wustl.edu	37	chr1	14107528	14107528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccacctcctctctccGcaatatcatctgttgtttcc	5	16	3	17	1	4	0	1	0	3	0	9	0	7	0	5	0	0	3	5	0	2	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:14107528G>T	ENST00000235372.7	+	8	4094	c.3238G>T	c.(3238-3240)Gca>Tca	p.A1080S	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A879S|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A1080S|PRDM2_ENST00000413440.1_Missense_Mutation_p.A879S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1080					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCTCTCTCCGCAATATCATC	0.468																																																	0													52	47	49					1																	14107528		2203	4300	6503	SO:0001583	missense	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"Chromatin-modifying enzymes / K-methyltransferases"	9347	protein-coding gene	gene with protein product	"retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B"	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3238G>T	1.37:g.14107528G>T	ENSP00000235372:p.Ala1080Ser		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.A1080S	ENST00000235372.7	37	c.3238	CCDS150.1	1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334125	0.11013	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01446	5.0;4.88;4.88;4.88	5.97	5.97	0.96955	.	0.441759	0.26601	N	0.023462	T	0.04452	0.0122	L	0.44542	1.39	0.38824	D	0.955707	D;D;D	0.58970	0.973;0.973;0.984	P;P;P	0.54346	0.565;0.565;0.749	T	0.58629	-0.7603	10	0.07813	T	0.8	.	18.9918	0.92796	0.0:0.0:1.0:0.0	.	938;1080;1080	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	S	1080;1080;1080;879;879	ENSP00000235372:A1080S;ENSP00000312352:A1080S;ENSP00000411103:A879S;ENSP00000341621:A879S	ENSP00000235372:A1080S	A	+	1	0	PRDM2	13980115	1.000000	0.71417	0.965000	0.40720	0.108000	0.19459	5.354000	0.66040	2.837000	0.97791	0.655000	0.94253	GCA	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.468	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	-	0	39	0	G	NM_012231		14107528	1	tier1	-	no_errors	ENST00000235372	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.992	T	T	14107528	G	T	14107528	3	4	107	1	0	0	0	0	1	0	0	0	12500	1087	38	2	3264	2	PRDM2	1	14107528	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		14107528	235143093	1	29410											
NBPF1	55672	genome.wustl.edu	37	chr1	16902825	16902825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccagctgttcttggaGgtcctgcccctgggacttgt	4	12	12	13	0	2	0	1	0	1	0	3	2	3	2	4	3	3	2	4	3	0	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:16902825G>A	ENST00000430580.2	-	19	2943	c.2056C>T	c.(2056-2058)Ctc>Ttc	p.L686F	NBPF1_ENST00000287968.8_Missense_Mutation_p.L51F|NBPF1_ENST00000432949.1_Missense_Mutation_p.L144F|NBPF1_ENST00000420031.2_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	686						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTTCTTGGAGGTCCTGCCCC	0.582																																																	0																																										SO:0001583	missense	0			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"neuroblastoma breakpoint family"	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2056C>T	1.37:g.16902825G>A	ENSP00000474456:p.Leu686Phe		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	pfam_NBPF_dom	p.L144F	ENST00000430580.2	37	c.430		1																																																																																			NBPF1	-	NULL	ENSG00000219481		0.582	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	-	0	380	0	G	NM_017940		16902825	-1	tier1	-	no_errors	ENST00000432949	ensembl	human	known	74_37	missense	21.51	270	74	SNP	0.002	A	A	16902825	G	A	16902825	3	1	107	1	0	0	0	0	1	0	0	0	10230	1000	35	3	1412	3	NBPF1	1	16902825	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	2795297	16902825	232347796	2	29411											
MAP3K6	9064	genome.wustl.edu	37	chr1	27685091	27685091	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcattggcggatggaccttGtacatacccacctgtggggg	7	9	15	10	1	0	0	0	0	0	0	0	2	0	2	3	6	2	2	3	6	2	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:27685091G>T	ENST00000493901.1	-	21	2834	c.2595C>A	c.(2593-2595)taC>taA	p.Y865*	MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.Y865*|MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.Y857*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	865	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGACCTTGTACATACCCA	0.627																																																	0													32	35	34					1																	27685091		2200	4299	6499	SO:0001587	stop_gained	0			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6858	protein-coding gene	gene with protein product	"apoptosis signal regulating kinase 2"	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2595C>A	1.37:g.27685091G>T	ENSP00000419591:p.Tyr865*		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y865*	ENST00000493901.1	37	c.2595	CCDS299.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.320783|9.320783	0.99135|0.99135	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000472410|ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.|.	.|.	.|.	5.23|5.23	3.35|3.35	0.38373|0.38373	.|.	.|.	.|.	.|.	.|.	T|.	0.17619|.	0.0423|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26292|.	-1.0107|.	3|.	.|0.05436	.|T	.|0.98	.|.	7.6087|7.6087	0.28118|0.28118	0.2602:0.0:0.7398:0.0|0.2602:0.0:0.7398:0.0	.|.	.|.	.|.	.|.	K|X	589|857;865;588;865	.|.	.|ENSP00000350195:Y865X	T|Y	-|-	2|3	0|2	MAP3K6|MAP3K6	27557678|27557678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	0.899000|0.899000	0.28417|0.28417	1.226000|1.226000	0.43582|0.43582	0.561000|0.561000	0.74099|0.74099	ACA|TAC	MAP3K6	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000142733		0.627	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	-	0	44	0	G	NM_004672		27685091	-1	tier1	-	no_errors	ENST00000357582	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T	T	27685091	G	T	27685091	4	4	107	1	0	0	0	0	0	1	0	0	9292	1372	48	3	1311	3	MAP3K6	1	27685091	Nonsense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	10782266	27685091	221565530	3	29412											
MAST2	23139	genome.wustl.edu	37	chr1	46497918	46497918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgtccaacccatcatccCgggactcttctccaagcagg	9	8	8	16	2	3	0	1	0	2	0	7	1	5	1	4	2	2	1	4	2	2	1	rs376892493		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:46497918C>T	ENST00000361297.2	+	25	3539	c.3256C>T	c.(3256-3258)Cgg>Tgg	p.R1086W	MAST2_ENST00000372009.2_Missense_Mutation_p.R1016W	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCATCATCCCGGGACTCTTC	0.592																																																	0								C	TRP/ARG	2,4134		0,2,2066	83	91	88		3256	2.5	1	1		88	0,8402		0,0,4201	no	missense	MAST2	NM_015112.2	101	0,2,6267	TT,TC,CC		0.0,0.0484,0.016	probably-damaging	1086/1799	46497918	2,12536	2068	4201	6269	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3256C>T	1.37:g.46497918C>T	ENSP00000354671:p.Arg1086Trp			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.R1086W	ENST00000361297.2	37	c.3256	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658668	0.67586	4.84E-4	0.0	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.71103	-0.54;0.86	4.94	2.53	0.30540	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.84293	0.5440	M	0.86502	2.82	0.51233	D	0.999913	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.955	D	0.86697	0.1927	10	0.87932	D	0	-20.9025	12.4428	0.55634	0.5674:0.4326:0.0:0.0	.	1016;1086	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	W	1086;1016	ENSP00000354671:R1086W;ENSP00000361079:R1016W	ENSP00000354671:R1086W	R	+	1	2	MAST2	46270505	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.274000	0.43390	1.047000	0.40274	0.561000	0.74099	CGG	MAST2	-	superfamily_PDZ	ENSG00000086015		0.592	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1	-	0	58	0	C	NM_015112		46497918	1	tier1	-	no_errors	ENST00000361297	ensembl	human	known	74_37	missense	56.34	31	40	SNP	1.000	T	T	46497918	C	T	46497918	3	4	107	1	0	0	0	0	1	0	0	0	9363	643	23	1	3354	1	MAST2	1	46497918	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	18812827	46497918	202752703	4	29413											
CC2D1B	200014	genome.wustl.edu	37	chr1	52821306	52821306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtagtgaaactcaaaccGcacaaaagcatccaggtcat	16	6	9	10	1	2	1	2	1	0	0	3	1	3	1	2	2	3	3	2	2	5	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:52821306G>A	ENST00000371586.2	-	20	2317	c.2179C>T	c.(2179-2181)Cgg>Tgg	p.R727W	RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R721W|CC2D1B_ENST00000438831.1_Missense_Mutation_p.R102W	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	727	C2.					nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						AACTCAAACCGCACAAAAGCA	0.552																																																	0													64	64	64					1																	52821306		2203	4300	6503	SO:0001583	missense	0			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.2179C>T	1.37:g.52821306G>A	ENSP00000360642:p.Arg727Trp		Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom	p.R727W	ENST00000371586.2	37	c.2179	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.060073	0.76074	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	T;T;T	0.26223	1.75;1.75;1.75	4.68	4.68	0.58851	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.205916	0.39146	N	0.001448	T	0.44540	0.1298	L	0.59436	1.845	0.46901	D	0.999249	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.984;0.991	T	0.34601	-0.9822	10	0.87932	D	0	-18.0576	10.9815	0.47497	0.0:0.0:0.6921:0.3079	.	507;721;727	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	W	727;721;635;102	ENSP00000360642:R727W;ENSP00000284376:R721W;ENSP00000406300:R102W	ENSP00000284376:R721W	R	-	1	2	CC2D1B	52593894	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	2.451000	0.44952	2.598000	0.87819	0.561000	0.74099	CGG	CC2D1B	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000154222		0.552	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	-	0	28	0	G	NM_032449		52821306	-1	tier1	-	no_errors	ENST00000371586	ensembl	human	known	74_37	missense	14.29	23	4	SNP	1.000	A	A	52821306	G	A	52821306	3	1	107	1	0	0	0	0	1	0	0	0	2734	1086	38	1	417	1	CC2D1B	1	52821306	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	6323388	52821306	196429315	5	29414											
CELSR2	1952	genome.wustl.edu	37	chr1	109816112	109816112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagagcagcctcctgcGgctccccctggagcaatgca	9	5	12	15	2	0	2	0	0	0	2	2	4	2	3	4	2	5	4	4	2	2	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:109816112G>A	ENST00000271332.3	+	33	8625	c.8564G>A	c.(8563-8565)cGg>cAg	p.R2855Q	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2855					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCCTCCTGCGGCTCCCCCTG	0.697																																					NSCLC(158;1285 2011 34800 34852 42084)												0													14	19	17					1																	109816112		2185	4286	6471	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3231	protein-coding gene	gene with protein product		604265	"cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8564G>A	1.37:g.109816112G>A	ENSP00000271332:p.Arg2855Gln		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R2855Q	ENST00000271332.3	37	c.8564	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113634	0.37339	.	.	ENSG00000143126	ENST00000271332	T	0.74209	-0.82	4.44	4.44	0.53790	.	.	.	.	.	T	0.52403	0.1732	L	0.49778	1.585	0.38709	D	0.953181	P	0.49253	0.921	B	0.37047	0.24	T	0.61821	-0.6984	9	0.51188	T	0.08	.	9.7315	0.40363	0.0973:0.0:0.9027:0.0	.	2855	Q9HCU4	CELR2_HUMAN	Q	2855	ENSP00000271332:R2855Q	ENSP00000271332:R2855Q	R	+	2	0	CELSR2	109617635	0.231000	0.23751	0.863000	0.33907	0.305000	0.27757	2.078000	0.41567	2.292000	0.77174	0.561000	0.74099	CGG	CELSR2	-	NULL	ENSG00000143126		0.697	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	0	21	0	G	NM_001408		109816112	1	tier1	-	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	40.00	12	8	SNP	1.000	A	A	109816112	G	A	109816112	3	1	107	1	0	0	0	0	1	0	0	0	3229	1116	39	1	8694	1	CELSR2	1	109816112	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	56994806	109816112	139434509	6	29415											
BCL9	607	genome.wustl.edu	37	chr1	147096223	147096223	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgagaagcccagccagacGctgcaatatttccctcgagg	10	8	10	13	2	1	2	0	1	1	2	3	4	2	2	3	1	3	2	3	1	3	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:147096223G>A	ENST00000234739.3	+	10	4484	c.3744G>A	c.(3742-3744)acG>acA	p.T1248T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1248	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAGCCAGACGCTGCAATATT	0.557			T	"IGH@, IGL@"	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													51	55	54					1																	147096223		2202	4299	6501	SO:0001819	synonymous_variant	0			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3744G>A	1.37:g.147096223G>A			Q5T489	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.T1248	ENST00000234739.3	37	c.3744	CCDS30833.1	1																																																																																			BCL9	-	NULL	ENSG00000116128		0.557	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	-	0	38	0	G	NM_004326		147096223	1	tier1	-	no_errors	ENST00000234739	ensembl	human	known	74_37	silent	10.00	45	5	SNP	1.000	A	A	147096223	G	A	147096223	2	1	107	1	0	0	0	0	0	0	0	1	1382	1074	38	1		1	BCL9	1	147096223	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	37280111	147096223	102154398	7	29416											
NPR1	4881	genome.wustl.edu	37	chr1	153655047	153655047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctctgggatatggatccCgagaatggtgccttcagggt	7	11	13	10	1	2	1	1	0	1	1	4	4	4	3	3	4	1	0	3	4	2	2	rs201584708		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:153655047C>T	ENST00000368680.3	+	5	1717	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	415					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATATGGATCCCGAGAATGGTG	0.532																																					Pancreas(141;1349 1870 15144 15830 40702)												0													115	92	100					1																	153655047		2203	4300	6503	SO:0001819	synonymous_variant	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"guanylate cyclase A"	108960	"atrionatriuretic peptide receptor A", "natriuretic peptide receptor A"	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1245C>T	1.37:g.153655047C>T			B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.P415	ENST00000368680.3	37	c.1245	CCDS1051.1	1																																																																																			NPR1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000169418		0.532	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0	57	0	C	NM_000906		153655047	1	tier1	rs201584708	no_errors	ENST00000368680	ensembl	human	known	74_37	silent	11.46	85	11	SNP	0.919	T	T	153655047	C	T	153655047	2	4	107	1	0	0	0	0	0	0	0	1	10633	639	23	1		1	NPR1	1	153655047	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	6558824	153655047	95595574	8	29417											
SHE	126669	genome.wustl.edu	37	chr1	154473951	154473951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttgcccttgtccagctcGggccccagggaggaagggga	7	7	15	12	1	1	0	0	0	1	0	3	3	2	3	4	5	2	1	4	5	1	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:154473951G>A	ENST00000304760.2	-	1	638	c.552C>T	c.(550-552)ccC>ccT	p.P184P	TDRD10_ENST00000368482.4_5'Flank|TDRD10_ENST00000368480.3_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	184										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTCCAGCTCGGGCCCCAGgg	0.592																																																	0													104	96	99					1																	154473951		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"SH2 domain containing"	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.552C>T	1.37:g.154473951G>A			Q8TEQ5	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.P184	ENST00000304760.2	37	c.552	CCDS30877.1	1																																																																																			SHE	-	NULL	ENSG00000169291		0.592	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2	-	0	60	0	G	NM_001010846		154473951	-1	tier1	-	no_errors	ENST00000304760	ensembl	human	known	74_37	silent	17.20	77	16	SNP	0.769	A	A	154473951	G	A	154473951	2	1	107	1	0	0	0	0	0	0	0	1	14321	1103	39	1		1	SHE	1	154473951	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	818904	154473951	94776670	9	29418											
LMOD1	25802	genome.wustl.edu	37	chr1	201915358	201915358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgtctgggtccaccacGtccagctccttctccagctc	4	10	7	20	2	2	0	0	0	2	0	8	0	6	0	6	1	2	2	6	1	0	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:201915358G>A	ENST00000367288.4	-	1	357	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	37					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCCACCACGTCCAGCTCCT	0.612																																																	0													54	61	59					1																	201915358		2021	4166	6187	SO:0001819	synonymous_variant	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.111C>T	1.37:g.201915358G>A			B1APV6|C4AMB1|Q68EN2	Silent	SNP	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.D37	ENST00000367288.4	37	c.111	CCDS53457.1	1																																																																																			LMOD1	-	pfam_Tropomodulin	ENSG00000163431		0.612	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	HGNC	protein_coding	OTTHUMT00000087085.2	-	0	58	0	G			201915358	-1	tier1	-	no_errors	ENST00000367288	ensembl	human	known	74_37	silent	22.45	76	22	SNP	0.963	A	A	201915358	G	A	201915358	2	1	107	1	0	0	0	0	0	0	0	1	8886	1136	40	1		1	LMOD1	1	201915358	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	47441407	201915358	47335263	10	29419											
GPR37L1	9283	genome.wustl.edu	37	chr1	202092359	202092359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccagccctaaccccGgcaaggatgggggcacccca	9	3	12	17	1	0	0	0	0	0	0	0	1	0	1	7	5	2	2	7	5	2	1	rs144676177	byFrequency	TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:202092359G>A	ENST00000367282.5	+	1	374	c.268G>A	c.(268-270)Ggc>Agc	p.G90S		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	90			G -> D (in dbSNP:rs3795595). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:9539149}.		negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCCTAACCCCGGCAAGGATGG	0.647																																																	0													41	41	41					1																	202092359		2203	4300	6503	SO:0001583	missense	0			AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"GPCR / Class A : Orphans"	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.268G>A	1.37:g.202092359G>A	ENSP00000356251:p.Gly90Ser		B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.G90S	ENST00000367282.5	37	c.268	CCDS1420.1	1	.	.	.	.	.	.	.	.	.	.	G	5.126	0.208921	0.09757	.	.	ENSG00000170075	ENST00000367282	T	0.79033	-1.23	4.87	3.88	0.44766	.	0.373374	0.22542	N	0.058713	T	0.50051	0.1593	N	0.04508	-0.205	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.32052	-0.9921	10	0.02654	T	1	-25.265	10.0549	0.42239	0.0:0.0:0.6834:0.3166	.	90	O60883	ETBR2_HUMAN	S	90	ENSP00000356251:G90S	ENSP00000356251:G90S	G	+	1	0	GPR37L1	200358982	0.055000	0.20627	0.029000	0.17559	0.739000	0.42172	2.531000	0.45650	2.219000	0.72066	0.462000	0.41574	GGC	GPR37L1	-	NULL	ENSG00000170075		0.647	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37L1	HGNC	protein_coding	OTTHUMT00000087496.2	-	0	36	0	G	NM_004767		202092359	1	tier1	-	no_errors	ENST00000367282	ensembl	human	known	74_37	missense	31.82	30	14	SNP	0.003	A	A	202092359	G	A	202092359	3	1	107	1	0	0	0	0	1	0	0	0	6718	1116	39	1	270	1	GPR37L1	1	202092359	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	177001	202092359	47158262	11	29420											
PLEKHA6	22874	genome.wustl.edu	37	chr1	204237354	204237354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtttgaagagccagccCgccttggtgacaggtgcatt	8	10	12	11	1	0	3	0	2	0	1	0	3	0	3	4	2	3	2	4	2	1	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:204237354C>T	ENST00000272203.3	-	4	505	c.189G>A	c.(187-189)gcG>gcA	p.A63A	PLEKHA6_ENST00000414478.1_Silent_p.A63A	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	63	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.A63A(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGAGCCAGCCCGCCTTGGTGA	0.602																																																	1	Substitution - coding silent(1)	lung(1)											111	94	100					1																	204237354		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"Pleckstrin homology (PH) domain containing"	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.189G>A	1.37:g.204237354C>T			A7MD51|Q5VTI6	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A63	ENST00000272203.3	37	c.189	CCDS1444.1	1																																																																																			PLEKHA6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000143850		0.602	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3	-	0	40	0	C	NM_014935		204237354	-1	tier1	-	no_errors	ENST00000272203	ensembl	human	known	74_37	silent	15.58	65	12	SNP	0.295	T	T	204237354	C	T	204237354	2	4	107	1	0	0	0	0	0	0	0	1	12099	639	23	1		1	PLEKHA6	1	204237354	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	2144995	204237354	45013267	12	29421											
FAM71A	149647	genome.wustl.edu	37	chr1	212798804	212798804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagacatgatgtggatGcctgtgtttcaggaagacag	11	10	14	6	0	1	4	1	2	0	2	1	6	1	6	1	2	1	2	1	2	2	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:212798804G>A	ENST00000294829.3	+	1	1016	c.585G>A	c.(583-585)atG>atA	p.M195I	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	195						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGATGTGGATGCCTGTGTTTC	0.522																																																	0													79	82	81					1																	212798804		2203	4300	6503	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.585G>A	1.37:g.212798804G>A	ENSP00000294829:p.Met195Ile		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.M195I	ENST00000294829.3	37	c.585	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920622	0.33908	.	.	ENSG00000162771	ENST00000294829	T	0.03468	3.92	4.12	4.12	0.48240	.	0.601212	0.14906	N	0.291509	T	0.04815	0.0130	L	0.59436	1.845	0.28775	N	0.900147	B	0.34103	0.437	B	0.28305	0.088	T	0.16394	-1.0404	10	0.22109	T;T	0.4;0.4	-28.3615	12.0991	0.53772	0.0:0.0:1.0:0.0	.	195	Q8IYT1	FA71A_HUMAN	I	195	ENSP00000294829:M195I	ENSP00000294829:M195I;ENSP00000294829:M195I	M	+	3	0	FAM71A	210865427	0.237000	0.23815	0.967000	0.41034	0.023000	0.10783	0.942000	0.29017	2.306000	0.77630	0.563000	0.77884	ATG	FAM71A	-	NULL	ENSG00000162771		0.522	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	-	0	20	0	G	NM_153606		212798804	1	tier1	-	no_errors	ENST00000294829	ensembl	human	known	74_37	missense	47.92	25	23	SNP	0.917	A	A	212798804	G	A	212798804	3	1	107	1	0	0	0	0	1	0	0	0	5629	1319	46	3	587	3	FAM71A	1	212798804	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	8561450	212798804	36451817	13	29422											
TRIM17	51127	genome.wustl.edu	37	chr1	228596974	228596974	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcacactcacgttgttcTtcctccggtgggcacacaca	8	10	8	15	2	2	0	1	0	1	0	4	0	4	0	2	2	1	4	2	2	0	3	rs201224780		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr1:228596974T>G	ENST00000366697.2	-	5	1738	c.782A>C	c.(781-783)aAg>aCg	p.K261T	TRIM11_ENST00000284551.6_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.K261T|TRIM17_ENST00000456946.2_Missense_Mutation_p.K261T|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.K261T			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	261					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CACGTTGTTCTTCCTCCGGTG	0.617																																																	0													80	84	83					1																	228596974		2203	4300	6503	SO:0001583	missense	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	13430	protein-coding gene	gene with protein product	"ring finger protein 16", "RING finger protein terf", "testis RING finger protein"	606123	"tripartite motif-containing 17"	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.782A>C	1.37:g.228596974T>G	ENSP00000355658:p.Lys261Thr		B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K261T	ENST00000366697.2	37	c.782	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	T	0.524	-0.860853	0.02610	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800	T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92	3.34	-0.393	0.12438	.	0.751547	0.11017	N	0.608820	T	0.02494	0.0076	L	0.45581	1.43	0.25349	N	0.988882	P;B	0.44044	0.825;0.156	B;B	0.32465	0.146;0.037	T	0.42932	-0.9422	10	0.22109	T	0.4	.	2.383	0.04358	0.2552:0.2701:0.0:0.4747	.	261;261	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	T	261;261;261;261;234	ENSP00000355658:K261T;ENSP00000355659:K261T;ENSP00000295033:K261T;ENSP00000403312:K261T;ENSP00000430468:K234T	ENSP00000295033:K261T	K	-	2	0	TRIM17	226663597	0.442000	0.25633	0.471000	0.27229	0.012000	0.07955	0.118000	0.15605	-0.087000	0.12528	0.379000	0.24179	AAG	TRIM17	-	NULL	ENSG00000162931		0.617	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	-	0	50	0	T	NM_016102		228596974	-1	tier1	-	no_errors	ENST00000295033	ensembl	human	known	74_37	missense	25.30	61	21	SNP	0.614	G	G	228596974	T	G	228596974	3	3	107	1	0	0	0	0	1	0	0	0	16541	1609	56	4	808	4	TRIM17	1	228596974	Missense_Mutation	SNP	T	TCGA-LN-A49V-01A-11D-A247-09	15798170	228596974	20653647	14	29423											
ATP6V1C2	245973	genome.wustl.edu	37	chr2	10863041	10863041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcaagctctggagaggatGaatactgtaacctccaagtc	12	10	10	9	0	1	2	0	1	1	1	3	4	2	3	2	2	4	3	2	2	5	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr2:10863041G>A	ENST00000272238.4	+	2	175	c.66G>A	c.(64-66)atG>atA	p.M22I	ATP6V1C2_ENST00000381661.3_Missense_Mutation_p.M22I|AC092687.3_ENST00000452909.1_lincRNA	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	22					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TGGAGAGGATGAATACTGTAA	0.438																																					NSCLC(188;1042 2136 10807 16813 47705)												0													108	104	105					2																	10863041		2203	4300	6503	SO:0001583	missense	0			AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"ATPases / V-type"	18264	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.66G>A	2.37:g.10863041G>A	ENSP00000272238:p.Met22Ile		Q96EL8	Missense_Mutation	SNP	pfam_ATPase_V1-cplx_csu	p.M22I	ENST00000272238.4	37	c.66	CCDS42653.1	2	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155271	0.57259	.	.	ENSG00000143882	ENST00000272238;ENST00000381661	T;T	0.45276	0.9;0.9	5.57	5.57	0.84162	.	0.138993	0.64402	D	0.000004	T	0.39835	0.1093	L	0.39898	1.24	0.49582	D	0.999805	B;B	0.09022	0.001;0.002	B;B	0.14023	0.003;0.01	T	0.20009	-1.0288	10	0.72032	D	0.01	-9.756	18.3128	0.90206	0.0:0.0:1.0:0.0	.	22;22	Q8NEY4-2;Q8NEY4	.;VATC2_HUMAN	I	22	ENSP00000272238:M22I;ENSP00000371077:M22I	ENSP00000272238:M22I	M	+	3	0	ATP6V1C2	10780492	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.123000	0.71614	2.614000	0.88457	0.655000	0.94253	ATG	ATP6V1C2	-	pfam_ATPase_V1-cplx_csu	ENSG00000143882		0.438	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ATP6V1C2	HGNC	protein_coding	OTTHUMT00000323555.1	-	0	83	0	G	NM_144583		10863041	1	tier1	-	no_errors	ENST00000272238	ensembl	human	known	74_37	missense	18.18	45	10	SNP	1.000	A	A	10863041	G	A	10863041	3	1	107	1	0	0	0	0	1	0	0	0	1182	1290	45	3	68	3	ATP6V1C2	2	10863041	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		10863041	232336332	15	29424											
EHBP1	23301	genome.wustl.edu	37	chr2	63091905	63091905	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctagaaaaacagaagActctttttataataacagct	17	12	4	8	0	2	3	1	0	1	3	2	3	2	3	1	0	3	1	1	0	7	7			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr2:63091905A>T	ENST00000263991.5	+	10	1384	c.902A>T	c.(901-903)gAc>gTc	p.D301V	EHBP1_ENST00000354487.3_Missense_Mutation_p.D266V|EHBP1_ENST00000405289.1_Missense_Mutation_p.D266V|EHBP1_ENST00000431489.1_Missense_Mutation_p.D266V|EHBP1_ENST00000405015.3_Missense_Mutation_p.D266V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	301						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAAACAGAAGACTCTTTTTAT	0.328																																																	0													71	80	77					2																	63091905		2200	4300	6500	SO:0001583	missense	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.902A>T	2.37:g.63091905A>T	ENSP00000263991:p.Asp301Val		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D301V	ENST00000263991.5	37	c.902	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	A	13.48	2.251219	0.39797	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T	0.74632	-0.86;0.8;-0.86;-0.86;-0.84;-0.84	5.54	5.54	0.83059	.	0.122998	0.56097	D	0.000030	T	0.66771	0.2823	N	0.22421	0.69	0.58432	D	0.999999	B;B;B	0.26258	0.119;0.096;0.145	B;B;B	0.34093	0.175;0.122;0.115	T	0.65421	-0.6172	10	0.48119	T	0.1	.	15.9665	0.79974	1.0:0.0:0.0:0.0	.	266;266;301	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	V	266;266;266;301;266;266	ENSP00000384143:D266V;ENSP00000384829:D266V;ENSP00000403783:D266V;ENSP00000263991:D301V;ENSP00000346482:D266V;ENSP00000385524:D266V	ENSP00000263991:D301V	D	+	2	0	EHBP1	62945409	1.000000	0.71417	0.995000	0.50966	0.645000	0.38454	5.783000	0.68982	2.231000	0.72958	0.455000	0.32223	GAC	EHBP1	-	NULL	ENSG00000115504		0.328	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	-	0	21	0	A	NM_015252		63091905	1	tier1	-	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	90.00	2	18	SNP	0.997	T	T	63091905	A	T	63091905	3	4	107	1	0	0	0	0	1	0	0	0	4989	275	10	5	936	5	EHBP1	2	63091905	Missense_Mutation	SNP	A	TCGA-LN-A49V-01A-11D-A247-09	52228864	63091905	180107468	16	29425											
DYSF	8291	genome.wustl.edu	37	chr2	71827929	71827929	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggggcagccagccgtCgggggagctgctggcctctt	5	6	18	12	3	1	0	0	0	1	0	2	3	1	1	3	5	4	3	3	5	0	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr2:71827929C>A	ENST00000258104.3	+	34	4077	c.3800C>A	c.(3799-3801)tCg>tAg	p.S1267*	DYSF_ENST00000410041.1_Nonsense_Mutation_p.S1285*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.S1298*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.S1268*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.S1254*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.S1268*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.S1267*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Nonsense_Mutation_p.S1299*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.S1285*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.S1284*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.S1284*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1267					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGCCAGCCGTCGGGGGAGCTG	0.622																																																	0													51	59	56					2																	71827929		2203	4299	6502	SO:0001587	stop_gained	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3800C>A	2.37:g.71827929C>A	ENSP00000258104:p.Ser1267*		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.S1298*	ENST00000258104.3	37	c.3893	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.545165	0.98857	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.56	5.56	0.83823	.	0.158423	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.3271	10.4673	0.44616	0.0:0.9116:0.0:0.0884	.	.	.	.	X	1298;1284;1284;1267;1267;1299;1268;1254;1268;1285;1285	.	ENSP00000258104:S1267X	S	+	2	0	DYSF	71681437	0.996000	0.38824	0.009000	0.14445	0.131000	0.20780	3.679000	0.54634	2.628000	0.89032	0.591000	0.81541	TCG	DYSF	-	superfamily_C2_dom	ENSG00000135636		0.622	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	-	0	64	0	C	NM_003494		71827929	1	tier1	-	no_errors	ENST00000413539	ensembl	human	known	74_37	nonsense	19.61	41	10	SNP	0.813	A	A	71827929	C	A	71827929	4	1	107	1	0	0	0	0	0	1	0	0	4873	893	31	2	4126	2	DYSF	2	71827929	Nonsense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	8736024	71827929	171371444	17	29426											
NPAS2	4862	genome.wustl.edu	37	chr2	101549417	101549417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacattcagcaagactggaAgccttcattcctcagtaatg	12	11	8	10	0	3	2	3	1	0	1	4	3	4	3	2	1	2	2	2	1	3	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr2:101549417A>G	ENST00000335681.5	+	4	512	c.227A>G	c.(226-228)aAg>aGg	p.K76R	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.K141R	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	76					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAGACTGGAAGCCTTCATTC	0.388																																																	0													100	90	93					2																	101549417		2203	4300	6503	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.227A>G	2.37:g.101549417A>G	ENSP00000338283:p.Lys76Arg		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.K141R	ENST00000335681.5	37	c.422	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.9|27.9	4.876593|4.876593	0.91664|0.91664	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504;ENST00000451740|ENST00000427413	T;T|.	0.08370|.	3.11;3.1|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Helix-loop-helix DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72112|0.72112	0.3420|0.3420	M|M	0.65320|0.65320	2|2	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.71331|0.71331	-0.4625|-0.4625	10|5	0.87932|.	D|.	0|.	.|.	15.9057|15.9057	0.79427|0.79427	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	141;76|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	R|G	76;141;62|142	ENSP00000338283:K76R;ENSP00000438428:K141R|.	ENSP00000338283:K76R|.	K|S	+|+	2|1	0|0	NPAS2|NPAS2	100915849|100915849	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.824000|8.824000	0.92023|0.92023	2.138000|2.138000	0.66242|0.66242	0.533000|0.533000	0.62120|0.62120	AAG|AGC	NPAS2	-	superfamily_bHLH_dom,prints_Nuc_translocat	ENSG00000170485		0.388	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	-	0	19	0	A			101549417	1	tier1	-	no_errors	ENST00000542504	ensembl	human	known	74_37	missense	61.11	7	11	SNP	1.000	G	G	101549417	A	G	101549417	3	3	107	1	0	0	0	0	1	0	0	0	10602	72	3	4	237	4	NPAS2	2	101549417	Missense_Mutation	SNP	A	TCGA-LN-A49V-01A-11D-A247-09	29721488	101549417	141649956	18	29427											
GMPPA	29926	genome.wustl.edu	37	chr2	220364857	220364857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccaggaactcgcttcagaCctttgtcttttgaggtgccc	6	13	9	13	1	2	2	1	1	1	1	4	3	3	3	3	2	2	1	3	2	1	4	rs373605931		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr2:220364857C>G	ENST00000358215.3	+	3	424	c.55C>G	c.(55-57)Cct>Gct	p.P19A	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000313597.5_Missense_Mutation_p.P19A|RP11-316O14.1_ENST00000601508.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.P19A|GMPPA_ENST00000341142.3_Missense_Mutation_p.P19A|GMPPA_ENST00000373917.3_Missense_Mutation_p.P19A	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	19					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotidyltransferase activity (GO:0016779)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCGCTTCAGACCTTTGTCTTT	0.582																																																	0													92	76	81					2																	220364857		2203	4300	6503	SO:0001583	missense	0			AF135422	CCDS2441.1	2q36.1	2008-02-05			ENSG00000144591	ENSG00000144591			22923	protein-coding gene	gene with protein product		615495					Standard	NM_205847		Approved		uc002vlr.3	Q96IJ6	OTTHUMG00000058922	ENST00000358215.3:c.55C>G	2.37:g.220364857C>G	ENSP00000350949:p.Pro19Ala		A6NJ74|A8K3Q6|B3KMT4|Q53GI0|Q9NWC3|Q9Y5P5	Missense_Mutation	SNP	pfam_NTP_transferase	p.P19A	ENST00000358215.3	37	c.55	CCDS2441.1	2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798253	0.90538	.	.	ENSG00000144591	ENST00000313597;ENST00000373917;ENST00000358215;ENST00000373908;ENST00000455657;ENST00000341142	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	4.1	4.1	0.47936	Nucleotidyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95899	0.8913	10	0.87932	D	0	-18.4942	16.3026	0.82830	0.0:1.0:0.0:0.0	.	19;19	Q96IJ6-2;Q96IJ6	.;GMPPA_HUMAN	A	19	ENSP00000315925:P19A;ENSP00000363027:P19A;ENSP00000350949:P19A;ENSP00000363016:P19A;ENSP00000392465:P19A;ENSP00000340760:P19A	ENSP00000315925:P19A	P	+	1	0	GMPPA	220073101	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.427000	0.80284	1.997000	0.58415	0.655000	0.94253	CCT	GMPPA	-	pfam_NTP_transferase	ENSG00000144591		0.582	GMPPA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GMPPA	HGNC	protein_coding	OTTHUMT00000130230.1	-	0	80	0	C	NM_013335		220364857	1	tier1	-	no_errors	ENST00000313597	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	G	G	220364857	C	G	220364857	3	3	107	1	0	0	0	0	1	0	0	0	6520	507	18	5	61	5	GMPPA	2	220364857	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	118815440	220364857	22834516	19	29428											
CCDC71	64925	genome.wustl.edu	37	chr3	49201104	49201104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaagtggaaccagggcctCaaggacaacagagagccgca	14	4	12	11	1	1	1	1	0	0	1	1	4	1	3	3	3	3	1	3	3	4	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr3:49201104C>T	ENST00000321895.6	-	2	644	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	180										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCAGGGCCTCAAGGACAACA	0.587																																																	0													56	61	59					3																	49201104		2203	4300	6503	SO:0001583	missense	0			AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.538G>A	3.37:g.49201104C>T	ENSP00000319006:p.Glu180Lys		Q6IPE2|Q9H8H4|Q9H9F1	Missense_Mutation	SNP	NULL	p.E180K	ENST00000321895.6	37	c.538	CCDS2790.1	3	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709157	0.68615	.	.	ENSG00000177352	ENST00000321895	T	0.37058	1.22	5.44	5.44	0.79542	.	0.147304	0.44688	D	0.000427	T	0.61324	0.2338	M	0.68952	2.095	0.43054	D	0.994661	D	0.89917	1.0	D	0.87578	0.998	T	0.64296	-0.6441	10	0.87932	D	0	-14.9245	19.2503	0.93921	0.0:1.0:0.0:0.0	.	180	Q8IV32	CCD71_HUMAN	K	180	ENSP00000319006:E180K	ENSP00000319006:E180K	E	-	1	0	CCDC71	49176108	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.108000	0.64609	2.565000	0.86533	0.585000	0.79938	GAG	CCDC71	-	NULL	ENSG00000177352		0.587	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC71	HGNC	protein_coding	OTTHUMT00000345980.1	-	0	41	0	C	NM_022903		49201104	-1	tier1	-	no_errors	ENST00000321895	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T	T	49201104	C	T	49201104	3	4	107	1	0	0	0	0	1	0	0	0	2851	835	29	3	869	3	CCDC71	3	49201104	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		49201104	148821326	20	29429											
MAGI1	9223	genome.wustl.edu	37	chr3	65425588	65425589	+	In_Frame_Ins	INS	-	-	TGT																															gctgctgctgctgctgctgcINStgttgctgctgctgttgctg																								rs374381483|rs139785185		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr3:65425588_65425589insTGT	ENST00000497477.2	-	9	1234_1235	c.1235_1236insACA	c.(1234-1236)cag>caACAg	p.412_412Q>QQ	MAGI1_ENST00000483466.1_In_Frame_Ins_p.412_412Q>QQ|MAGI1_ENST00000330909.8_In_Frame_Ins_p.412_412Q>QQ|MAGI1_ENST00000402939.2_In_Frame_Ins_p.412_412Q>QQ|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	412	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgttgctgctg	0.535											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001652	inframe_insertion	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1233_1235dupACA	3.37:g.65425589_65425591dupTGT	ENSP00000424369:p.Gln421dup	1084	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	In_Frame_Ins	INS	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.416in_frame_insQ	ENST00000497477.2	37	c.1236_1235		3																																																																																			MAGI1	-	NULL	ENSG00000151276		0.535	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2		0	61	0	-	NM_004742		65425589	-1	tier1		no_errors	ENST00000402939	ensembl	human	known	74_37	in_frame_ins	14.52	53	9	INS	0.423:0.413	TGT	TGT	65425589	-	TGT	65425588	7	5	107	1	0	1	1	0	0	0	0	0	9228	796	28	0	3446	0	MAGI1	3	65425588	In_Frame_Ins	INS	-	TCGA-LN-A49V-01A-11D-A247-09	16224484	65425588	132596842	21	29430											
KALRN	8997	genome.wustl.edu	37	chr3	124281861	124281861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccgcccttggagggtctgGtccccagcagcgccctgtgc	3	7	14	17	2	1	0	0	0	1	0	2	1	2	1	5	3	3	1	5	3	0	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr3:124281861G>C	ENST00000393496.1	+	2	384	c.220G>C	c.(220-222)Gtc>Ctc	p.V74L	KALRN_ENST00000360013.3_Missense_Mutation_p.V1701L			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1701	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGGGTCTGGTCCCCAGCAG	0.657																																																	0													50	55	53					3																	124281861		2071	4205	6276	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	4814	protein-coding gene	gene with protein product	"serine/threonine kinase with Dbl and pleckstrin homology domains"	604605	"huntingtin-associated protein interacting protein (duo)"	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000393496.1:c.220G>C	3.37:g.124281861G>C	ENSP00000377134:p.Val74Leu		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V1701L	ENST00000393496.1	37	c.5101		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.39|19.39	3.818583|3.818583	0.71028|0.71028	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000393496|ENST00000354186	T;T|.	0.70986|.	-0.53;0.49|.	4.54|4.54	4.54|4.54	0.55810|0.55810	Src homology-3 domain (3);|.	0.077693|.	0.51477|.	D|.	0.000095|.	T|T	0.65637|0.65637	0.2710|0.2710	L|L	0.41906|0.41906	1.305|1.305	0.80722|0.80722	D|D	1|1	B;D|.	0.58970|.	0.012;0.984|.	B;D|.	0.65443|.	0.015;0.935|.	T|T	0.62487|0.62487	-0.6844|-0.6844	10|5	0.59425|.	D|.	0.04|.	.|.	17.8689|17.8689	0.88804|0.88804	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	74;1701|.	O60229-5;O60229|.	.;KALRN_HUMAN|.	L|C	1701;74|1669	ENSP00000353109:V1701L;ENSP00000377134:V74L|.	ENSP00000353109:V1701L|.	V|W	+|+	1|3	0|0	KALRN|KALRN	125764551|125764551	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.598000|9.598000	0.98277|0.98277	2.522000|2.522000	0.85027|0.85027	0.655000|0.655000	0.94253|0.94253	GTC|TGG	KALRN	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000160145		0.657	KALRN-002	NOVEL	basic	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258840.2	-	0	38	0	G	NM_003947		124281861	1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	C	C	124281861	G	C	124281861	3	2	107	1	0	0	0	0	1	0	0	0	8002	1261	44	5	5302	5	KALRN	3	124281861	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	58856273	124281861	73740569	22	29431											
POLR2H	5437	genome.wustl.edu	37	chr3	184086034	184086034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaacaacctgcatggattCgaggtggactccagagttta	11	9	11	10	1	0	1	0	0	0	1	2	4	1	3	3	3	3	2	3	3	3	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr3:184086034C>T	ENST00000456318.1	+	6	1454	c.405C>T	c.(403-405)ttC>ttT	p.F135F	POLR2H_ENST00000443489.1_Silent_p.F71F|POLR2H_ENST00000430783.1_Silent_p.F107F|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000438240.1_Silent_p.F99F|POLR2H_ENST00000296223.3_Silent_p.F135F|POLR2H_ENST00000429568.1_Nonsense_Mutation_p.R157*|POLR2H_ENST00000452961.1_Silent_p.F99F	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	135					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCATGGATTCGAGGTGGACT	0.557																																																	0													125	118	120					3																	184086034		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"RNA polymerase subunits"	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.405C>T	3.37:g.184086034C>T			C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Nonsense_Mutation	SNP	pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold,smart_RNA_pol_Rpb8	p.R157*	ENST00000456318.1	37	c.469	CCDS3264.1	3	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474050	0.63737	.	.	ENSG00000163882	ENST00000429568	.	.	.	5.74	-0.534	0.11883	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.945	10.1302	0.42674	0.0:0.2858:0.0:0.7142	.	.	.	.	X	157	.	ENSP00000415536:R157X	R	+	1	2	POLR2H	185568728	0.902000	0.30710	0.999000	0.59377	0.956000	0.61745	-0.106000	0.10890	0.125000	0.18397	-1.154000	0.01816	CGA	POLR2H	-	NULL	ENSG00000163882		0.557	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2H	HGNC	protein_coding	OTTHUMT00000345558.1	-	0	51	0	C	NM_006232		184086034	1	tier1	-	no_errors	ENST00000429568	ensembl	human	novel	74_37	nonsense	28.57	65	26	SNP	0.987	T	T	184086034	C	T	184086034	2	4	107	1	0	0	0	0	0	0	0	1	12260	883	31	1		1	POLR2H	3	184086034	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	59804173	184086034	13936396	23	29432											
C4orf50	389197	genome.wustl.edu	37	chr4	5981916	5981916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccttggcctggagctcCtcctggaggcgggtggcctc	4	8	14	15	1	0	0	0	0	0	0	3	2	2	2	5	6	1	1	5	6	0	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr4:5981916C>T	ENST00000324058.5	-	2	242	c.153G>A	c.(151-153)gaG>gaA	p.E51E	C4orf50_ENST00000531445.1_Silent_p.E525E			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	51										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCTGGAGCTCCTCCTGGAGGC	0.647																																																	0													22	22	22					4																	5981916		2185	4262	6447	SO:0001819	synonymous_variant	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.153G>A	4.37:g.5981916C>T				Silent	SNP	NULL	p.E525	ENST00000324058.5	37	c.1575		4																																																																																			C4orf50	-	NULL	ENSG00000181215		0.647	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		-	0	46	0	C	NM_207405		5981916	-1	tier1	-	no_errors	ENST00000531445	ensembl	human	known	74_37	silent	17.24	48	10	SNP	0.001	T	T	5981916	C	T	5981916	2	4	107	1	0	0	0	0	0	0	0	1	2283	680	24	3		3	C4orf50	4	5981916	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		5981916	185172360	24	29433											
MAN2B2	23324	genome.wustl.edu	37	chr4	6578408	6578408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagcaggagtttttccGgctgtggtgggatggcgtcg	4	12	19	6	3	0	0	0	0	0	0	2	3	1	3	1	6	1	3	1	6	0	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr4:6578408G>A	ENST00000285599.3	+	2	278	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R81Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	81					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGTTTTTCCGGCTGTGGTGG	0.617																																																	0													77	76	76					4																	6578408		2203	4300	6503	SO:0001583	missense	0			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"core-specific lysosomal alpha-1,6-Mannosidase"					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.242G>A	4.37:g.6578408G>A	ENSP00000285599:p.Arg81Gln		Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.R81Q	ENST00000285599.3	37	c.242	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.30|19.30	3.800898|3.800898	0.70567|0.70567	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000505907|ENST00000285599;ENST00000504248	.|T;T	.|0.73047	.|-0.71;-0.71	3.89|3.89	3.89|3.89	0.44902|0.44902	.|Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	.|0.072952	.|0.56097	.|D	.|0.000034	T|T	0.73171|0.73171	0.3553|0.3553	L|L	0.31804|0.31804	0.96|0.96	0.54753|0.54753	D|D	0.999986|0.999986	.|D;D;P	.|0.89917	.|0.998;1.0;0.87	.|D;D;B	.|0.83275	.|0.958;0.996;0.355	T|T	0.68014|0.68014	-0.5521|-0.5521	5|10	.|0.14656	.|T	.|0.56	-23.9621|-23.9621	14.4206|14.4206	0.67180|0.67180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|81;81;81	.|E9PCD7;Q9Y2E5;Q9Y2E5-2	.|.;MA2B2_HUMAN;.	S|Q	80|81	.|ENSP00000285599:R81Q;ENSP00000423129:R81Q	.|ENSP00000285599:R81Q	G|R	+|+	1|2	0|0	MAN2B2|MAN2B2	6629309|6629309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.153000|0.153000	0.21895|0.21895	7.537000|7.537000	0.82033|0.82033	1.678000|1.678000	0.50952|0.50952	0.555000|0.555000	0.69702|0.69702	GGC|CGG	MAN2B2	-	pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl	ENSG00000013288		0.617	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	-	0	39	0	G	NM_015274		6578408	1	tier1	-	no_errors	ENST00000285599	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A	A	6578408	G	A	6578408	3	1	107	1	0	0	0	0	1	0	0	0	9255	1116	39	1	248	1	MAN2B2	4	6578408	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	596492	6578408	184575868	25	29434											
SLIT2	9353	genome.wustl.edu	37	chr4	20543179	20543179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaatcctagatgtcaaaaaCcatacttcctgaaagaaata	19	9	5	8	0	1	3	1	1	0	2	3	4	3	3	3	0	2	0	3	0	8	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr4:20543179C>G	ENST00000504154.1	+	20	2332	c.2080C>G	c.(2080-2082)Cca>Gca	p.P694A	SLIT2_ENST00000503837.1_Missense_Mutation_p.P690A|SLIT2_ENST00000503823.1_Missense_Mutation_p.P686A|SLIT2_ENST00000273739.5_Missense_Mutation_p.P698A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	694	LRRCT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGTCAAAAACCATACTTCCT	0.433																																																	0													115	105	109					4																	20543179		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"slit (Drosophila) homolog 2"	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2080C>G	4.37:g.20543179C>G	ENSP00000422591:p.Pro694Ala		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.P694A	ENST00000504154.1	37	c.2080	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404853	0.83230	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.83163	-1.69;-1.69;-1.61;-1.65	5.91	5.91	0.95273	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95378	0.8470	10	0.72032	D	0.01	.	20.2896	0.98541	0.0:1.0:0.0:0.0	.	686;694	O94813-3;O94813	.;SLIT2_HUMAN	A	686;694;698;690;690	ENSP00000427548:P686A;ENSP00000422591:P694A;ENSP00000273739:P698A;ENSP00000422261:P690A	ENSP00000273739:P698A	P	+	1	0	SLIT2	20152277	1.000000	0.71417	0.918000	0.36340	0.903000	0.53119	7.484000	0.81180	2.794000	0.96219	0.655000	0.94253	CCA	SLIT2	-	pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C	ENSG00000145147		0.433	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0	65	0	C			20543179	1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	22.22	49	14	SNP	1.000	G	G	20543179	C	G	20543179	3	3	107	1	0	0	0	0	1	0	0	0	14785	507	18	5	2158	5	SLIT2	4	20543179	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	13964771	20543179	170611097	26	29435											
ALB	213	genome.wustl.edu	37	chr4	74283887	74283887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccaaatgctgcacagaatCcttggtgaacaggcgaccat	13	7	9	12	1	0	2	0	1	0	1	1	3	1	2	3	2	3	2	3	2	3	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr4:74283887C>T	ENST00000503124.1	+	10	1268	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	ALB_ENST00000401494.3_Missense_Mutation_p.S389F|ALB_ENST00000415165.2_Missense_Mutation_p.S312F|ALB_ENST00000509063.1_Missense_Mutation_p.S504F|ALB_ENST00000295897.4_Missense_Mutation_p.S504F|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCACAGAATCCTTGGTGAAC	0.453																																																	0													117	109	112					4																	74283887		2203	4300	6503	SO:0001583	missense	0			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1061C>T	4.37:g.74283887C>T	ENSP00000421027:p.Ser354Phe		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB	p.S504F	ENST00000503124.1	37	c.1511		4	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885162	0.51908	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.94	5.94	0.96194	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.000000	0.64402	D	0.000001	T	0.81678	0.4873	M	0.90650	3.135	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.998;0.997;0.997	D	0.84458	0.0592	10	0.87932	D	0	-27.4715	18.9296	0.92560	0.0:1.0:0.0:0.0	.	389;312;354;504;504	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	F	504;312;291;354;504;389;513	ENSP00000295897:S504F;ENSP00000401820:S312F;ENSP00000421027:S354F;ENSP00000422784:S504F;ENSP00000384695:S389F	ENSP00000295897:S504F	S	+	2	0	ALB	74502751	0.986000	0.35501	0.888000	0.34837	0.033000	0.12548	3.013000	0.49582	2.820000	0.97059	0.650000	0.86243	TCC	ALB	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP	ENSG00000163631		0.453	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	ALB	HGNC	protein_coding	OTTHUMT00000365419.1	-	0	34	0	C	NM_000477		74283887	1	tier1	-	no_errors	ENST00000295897	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.998	T	T	74283887	C	T	74283887	3	4	107	1	0	0	0	0	1	0	0	0	486	855	30	3	1557	3	ALB	4	74283887	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	53740708	74283887	116870389	27	29436											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-																															ataaccccggcttcgaggccGaggaggaggaggaggaggtg																										TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0										18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				SO:0001651	inframe_deletion	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del		Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			PKD2	-	NULL	ENSG00000118762		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4		0	22	0	GAG	NM_000297		88929176	1	tier1		no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	12.50	14	2	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	107	1	0	1	0	1	0	0	0	0	12005	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-LN-A49V-01A-11D-A247-09	14645287	88929174	102225102	28	29437											
ANK2	287	genome.wustl.edu	37	chr4	114276595	114276595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaccaccacagaaattcGttcagaaaaagagcatccca	19	5	6	11	1	1	4	1	0	0	4	3	4	2	4	3	0	2	2	3	0	4	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr4:114276595G>A	ENST00000357077.4	+	38	6874	c.6821G>A	c.(6820-6822)cGt>cAt	p.R2274H	ANK2_ENST00000264366.6_Missense_Mutation_p.R2241H|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2274					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAGAAATTCGTTCAGAAAAA	0.478																																																	0													39	40	40					4																	114276595		2203	4298	6501	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6821G>A	4.37:g.114276595G>A	ENSP00000349588:p.Arg2274His		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R2274H	ENST00000357077.4	37	c.6821	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.005|0.005	-2.206426|-2.206426	0.00292|0.00292	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000431447|ENST00000357077;ENST00000264366	.|T;T	.|0.66460	.|-0.19;-0.21	5.7|5.7	-6.39|-6.39	0.01951|0.01951	.|.	.|1.462180	.|0.04027	.|N	.|0.300720	.|T	.|0.20780	.|0.0500	N|N	0.00197|0.00197	-1.87|-1.87	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	.|T	.|0.19745	.|-1.0296	.|9	.|.	.|.	.|.	.|.	2.3696|2.3696	0.04327|0.04327	0.3061:0.3206:0.2691:0.1042|0.3061:0.3206:0.2691:0.1042	.|.	.|2241;2274	.|Q01484;Q01484-4	.|ANK2_HUMAN;.	.|H	-1|2274;2241	.|ENSP00000349588:R2274H;ENSP00000264366:R2241H	.|.	.|R	+|+	.|2	.|0	ANK2|ANK2	114496044|114496044	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.014000|0.014000	0.08584|0.08584	-0.160000|-0.160000	0.10041|0.10041	-0.876000|-0.876000	0.04017|0.04017	-1.258000|-1.258000	0.01471|0.01471	.|CGT	ANK2	-	NULL	ENSG00000145362		0.478	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	-	0	9	0	G	NM_001148		114276595	1	tier1	-	no_errors	ENST00000357077	ensembl	human	known	74_37	missense	92.86	1	13	SNP	0.000	A	A	114276595	G	A	114276595	3	1	107	1	0	0	0	0	1	0	0	0	621	1145	40	1	7036	1	ANK2	4	114276595	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	25347421	114276595	76877681	29	29438											
PAPD7	11044	genome.wustl.edu	37	chr5	6755014	6755014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctggaggaggaaaaaaCacacacacacacgggacagt	16	2	12	11	2	0	0	0	0	0	0	0	4	0	4	1	5	1	1	1	5	3	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr5:6755014C>A	ENST00000230859.6	+	13	1714	c.1585C>A	c.(1585-1587)Cac>Aac	p.H529N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAGGAAAAAACACACACACAC	0.657																																					NSCLC(7;212 333 5667 23379 46547)												0													29	31	30					5																	6755014		2202	4300	6502	SO:0001583	missense	0			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"topoisomerase-related function protein 4-1", "polymerase (DNA-directed) sigma", "DNA polymerase kappa", "TUTase5"	605198	"polymerase (DNA directed) sigma"	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1585C>A	5.37:g.6755014C>A	ENSP00000230859:p.His529Asn		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.H529N	ENST00000230859.6	37	c.1585	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940508	0.52972	.	.	ENSG00000112941	ENST00000230859	T	0.33216	1.42	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000017	T	0.16727	0.0402	N	0.19112	0.55	0.31730	N	0.637111	P;P	0.43826	0.818;0.818	B;B	0.32090	0.14;0.14	T	0.20806	-1.0264	10	0.72032	D	0.01	-12.2819	10.9635	0.47399	0.0:0.912:0.0:0.088	.	528;529	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	529	ENSP00000230859:H529N	ENSP00000230859:H529N	H	+	1	0	PAPD7	6808014	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.917000	0.48821	2.458000	0.83093	0.655000	0.94253	CAC	PAPD7	-	NULL	ENSG00000112941		0.657	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1	-	0	30	0	C	NM_006999		6755014	1	tier1	-	no_errors	ENST00000230859	ensembl	human	known	74_37	missense	63.64	4	7	SNP	1.000	A	A	6755014	C	A	6755014	3	1	107	1	0	0	0	0	1	0	0	0	11465	478	17	3	1631	3	PAPD7	5	6755014	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		6755014	174160246	30	29439											
DMXL1	1657	genome.wustl.edu	37	chr5	118556217	118556217	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgatgttcaagaactGgatgtttctggaattctggc	10	14	11	6	0	4	2	2	1	2	1	4	4	4	4	0	3	1	2	0	3	3	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr5:118556217G>C	ENST00000311085.8	+	35	8081	c.8001G>C	c.(7999-8001)ctG>ctC	p.L2667L	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Silent_p.L2688L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2667										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCAAGAACTGGATGTTTCTG	0.363																																																	0													107	103	104					5																	118556217		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8001G>C	5.37:g.118556217G>C				Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2688	ENST00000311085.8	37	c.8064	CCDS4125.1	5																																																																																			DMXL1	-	NULL	ENSG00000172869		0.363	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	-	0	24	0	G	NM_005509		118556217	1	tier1	-	no_errors	ENST00000539542	ensembl	human	known	74_37	silent	18.52	22	5	SNP	0.998	C	C	118556217	G	C	118556217	2	2	107	1	0	0	0	0	0	0	0	1	4608	1335	47	5		5	DMXL1	5	118556217	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	111801203	118556217	62359043	31	29440											
PCDHB7	56129	genome.wustl.edu	37	chr5	140554656	140554656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggaccctatcccagagctAccagtatgaggtgtgcctga	9	8	12	12	1	0	3	0	2	0	1	1	4	1	4	4	2	3	2	4	2	3	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr5:140554656A>G	ENST00000231137.3	+	1	2414	c.2240A>G	c.(2239-2241)tAc>tGc	p.Y747C	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	747					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGAGCTACCAGTATGAG	0.607																																																	0													88	136	120					5																	140554656		2203	4300	6503	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2240A>G	5.37:g.140554656A>G	ENSP00000231137:p.Tyr747Cys		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y747C	ENST00000231137.3	37	c.2240	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248378	0.59103	.	.	ENSG00000113212	ENST00000231137	T	0.16743	2.32	4.29	4.29	0.51040	.	.	.	.	.	T	0.55337	0.1914	H	0.96662	3.86	0.38419	D	0.94614	D	0.89917	1.0	D	0.85130	0.997	T	0.73914	-0.3832	9	0.87932	D	0	.	13.4674	0.61263	1.0:0.0:0.0:0.0	.	747	Q9Y5E2	PCDB7_HUMAN	C	747	ENSP00000231137:Y747C	ENSP00000231137:Y747C	Y	+	2	0	PCDHB7	140534840	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.864000	0.56024	1.707000	0.51288	0.369000	0.22263	TAC	PCDHB7	-	NULL	ENSG00000113212		0.607	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0	100	0	A	NM_018940		140554656	1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	94.59	4	70	SNP	1.000	G	G	140554656	A	G	140554656	3	3	107	1	0	0	0	0	1	0	0	0	11586	391	14	4	2242	4	PCDHB7	5	140554656	Missense_Mutation	SNP	A	TCGA-LN-A49V-01A-11D-A247-09	21998439	140554656	40360604	32	29441											
DIAPH1	1729	genome.wustl.edu	37	chr5	140957145	140957145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaagagaatctgaaagaCttcattaaagtcagtggaaa	17	11	9	4	0	3	3	2	1	1	2	3	5	3	4	0	1	0	1	0	1	6	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr5:140957145C>T	ENST00000398557.4	-	12	1317	c.1177G>A	c.(1177-1179)Gtc>Atc	p.V393I	DIAPH1_ENST00000389057.5_Missense_Mutation_p.V384I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.V339I|DIAPH1_ENST00000389054.3_Missense_Mutation_p.V393I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.V384I|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V384I|DIAPH1_ENST00000253811.6_Missense_Mutation_p.V393I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.V384I	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	393	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGAAAGACTTCATTAAAG	0.403																																																	0													110	106	108					5																	140957145		1864	4101	5965	SO:0001583	missense	0			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"diaphanous (Drosophila, homolog) 1", "diaphanous homolog 1 (Drosophila)"	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1177G>A	5.37:g.140957145C>T	ENSP00000381565:p.Val393Ile		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin	p.V393I	ENST00000398557.4	37	c.1177	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549236	0.45383	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.77	3.99	0.46301	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.406292	0.21019	N	0.081549	T	0.71108	0.3301	N	0.20845	0.615	0.46564	D	0.999107	B;B	0.27823	0.19;0.19	B;B	0.26094	0.066;0.066	T	0.65932	-0.6048	10	0.45353	T	0.12	.	11.1759	0.48598	0.0:0.8494:0.0:0.1506	.	384;393	E9PEZ2;O60610	.;DIAP1_HUMAN	I	393;339;384;384;384;393;393;384	ENSP00000373706:V393I;ENSP00000429282:V339I;ENSP00000381570:V384I;ENSP00000373709:V384I;ENSP00000381572:V384I;ENSP00000381565:V393I;ENSP00000253811:V393I;ENSP00000428268:V384I	ENSP00000253811:V393I	V	-	1	0	DIAPH1	140937329	0.993000	0.37304	1.000000	0.80357	0.978000	0.69477	1.978000	0.40598	0.788000	0.33755	0.467000	0.42956	GTC	DIAPH1	-	pfam_FH3_dom,superfamily_ARM-type_fold	ENSG00000131504		0.403	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		-	0	36	0	C	NM_005219		140957145	-1	tier1	-	no_errors	ENST00000253811	ensembl	human	known	74_37	missense	97.22	1	35	SNP	1.000	T	T	140957145	C	T	140957145	3	4	107	1	0	0	0	0	1	0	0	0	4532	565	20	3	2709	3	DIAPH1	5	140957145	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	402489	140957145	39958115	33	29442											
SPINK5	11005	genome.wustl.edu	37	chr5	147499615	147499615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgaaaaatggaaaacTcatctgcactcgagaaagtg	18	7	8	8	1	2	2	1	1	1	1	3	4	2	3	1	1	2	1	1	1	6	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr5:147499615T>A	ENST00000256084.7	+	25	2399	c.2357T>A	c.(2356-2358)cTc>cAc	p.L786H	SPINK5_ENST00000359874.3_Missense_Mutation_p.L786H|SPINK5_ENST00000398454.1_Missense_Mutation_p.L786H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	786	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGAAAACTCATCTGCACT	0.378																																																	0													78	69	72					5																	147499615		1845	4093	5938	SO:0001583	missense	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"Serine peptidase inhibitors, Kazal type"	15464	protein-coding gene	gene with protein product	"lymphoepithelial Kazal-type-related inhibitor"	605010	"serine protease inhibitor, Kazal type 5"			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2357T>A	5.37:g.147499615T>A	ENSP00000256084:p.Leu786His		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom	p.L786H	ENST00000256084.7	37	c.2357	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527866	0.64860	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.08370	3.1;3.1;3.1;3.1	5.56	5.56	0.83823	Proteinase inhibitor I1, Kazal (1);	0.000000	0.44902	D	0.000403	T	0.26085	0.0636	M	0.77486	2.375	0.22754	N	0.998774	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;1.0	T	0.22382	-1.0218	10	0.15499	T	0.54	-13.4938	12.402	0.55418	0.0:0.0:0.0:1.0	.	767;786;786;786	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	786;786;767;786	ENSP00000381472:L786H;ENSP00000352936:L786H;ENSP00000421519:L767H;ENSP00000256084:L786H	ENSP00000256084:L786H	L	+	2	0	SPINK5	147479808	0.950000	0.32346	0.128000	0.21923	0.929000	0.56500	4.060000	0.57477	2.253000	0.74438	0.455000	0.32223	CTC	SPINK5	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000133710		0.378	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	-	0	32	0	T	NM_001127698		147499615	1	tier1	-	no_errors	ENST00000359874	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.406	A	A	147499615	T	A	147499615	3	1	107	1	0	0	0	0	1	0	0	0	15109	1551	54	5	2455	5	SPINK5	5	147499615	Missense_Mutation	SNP	T	TCGA-LN-A49V-01A-11D-A247-09	6542470	147499615	33415645	34	29443											
MDC1	9656	genome.wustl.edu	37	chr6	30671587	30671587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatctacctgctggttcCaccttttggatctgggaggc	6	13	11	11	0	2	1	0	0	2	1	3	3	3	3	3	4	2	2	3	4	2	5	rs557483176		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr6:30671587C>T	ENST00000376406.3	-	10	6020	c.5373G>A	c.(5371-5373)gtG>gtA	p.V1791V	MDC1_ENST00000376405.2_Silent_p.V1527V|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1791	Required for nuclear localization (NLS2).		V -> E (in dbSNP:rs28994873).		DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTGCTGGTTCCACCTTTTGGA	0.542								Other conserved DNA damage response genes																																									0													114	103	106					6																	30671587		2203	4300	6503	SO:0001819	synonymous_variant	0			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.5373G>A	6.37:g.30671587C>T			A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.V1791	ENST00000376406.3	37	c.5373	CCDS34384.1	6																																																																																			MDC1	-	NULL	ENSG00000137337		0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	-	0	23	0	C	NM_014641		30671587	-1	tier1	-	no_errors	ENST00000376406	ensembl	human	known	74_37	silent	34.78	15	8	SNP	0.000	T	T	30671587	C	T	30671587	2	4	107	1	0	0	0	0	0	0	0	1	9441	581	21	3		3	MDC1	6	30671587	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		30671587	140443480	35	29444											
IMPG1	3617	genome.wustl.edu	37	chr6	76728472	76728472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagctcctggtaatatGgggactgggagtcagcgagc	8	9	15	9	1	1	0	1	0	0	0	2	3	2	2	1	4	4	3	1	4	3	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr6:76728472G>T	ENST00000369950.3	-	7	959	c.770C>A	c.(769-771)cCa>cAa	p.P257Q	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CTGGTAATATGGGGACTGGGA	0.547																																					Pancreas(37;839 1141 2599 26037)												0													140	129	133					6																	76728472		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.770C>A	6.37:g.76728472G>T	ENSP00000358966:p.Pro257Gln			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P257Q	ENST00000369950.3	37	c.770	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677227	0.47886	.	.	ENSG00000112706	ENST00000369950	T	0.78707	-1.2	6.17	5.19	0.71726	SEA (3);	0.307458	0.28754	N	0.014244	T	0.81861	0.4912	M	0.70275	2.135	0.37108	D	0.90019	D	0.76494	0.999	D	0.72982	0.979	D	0.84956	0.0874	10	0.66056	D	0.02	.	10.535	0.44998	0.1105:0.0:0.8895:0.0	.	257	Q17R60	IMPG1_HUMAN	Q	257	ENSP00000358966:P257Q	ENSP00000358966:P257Q	P	-	2	0	IMPG1	76785192	0.896000	0.30565	0.008000	0.14137	0.658000	0.38924	2.085000	0.41634	1.368000	0.46115	0.655000	0.94253	CCA	IMPG1	-	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	ENSG00000112706		0.547	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	-	0	37	0	G	NM_001563		76728472	-1	tier1	-	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	54.55	15	18	SNP	0.212	T	T	76728472	G	T	76728472	3	4	107	1	0	0	0	0	1	0	0	0	7755	1348	47	3	1667	3	IMPG1	6	76728472	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	46056885	76728472	94386595	36	29445											
QRSL1	55278	genome.wustl.edu	37	chr6	107096922	107096922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggagcacagatggtgtaTttggaccagttaaaaacccc	12	9	11	9	0	0	1	0	0	0	1	0	3	0	3	3	3	2	3	3	3	4	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr6:107096922T>G	ENST00000369046.4	+	5	507	c.403T>G	c.(403-405)Ttt>Gtt	p.F135V	QRSL1_ENST00000369044.1_Missense_Mutation_p.F135V	NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGATGGTGTATTTGGACCAGT	0.368																																					NSCLC(192;2127 2142 11668 26277 49545)												0													71	72	71					6																	107096922		2203	4300	6503	SO:0001583	missense	0			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"glutamyl-tRNA(Gln) amidotransferase, subunit A"					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.403T>G	6.37:g.107096922T>G	ENSP00000358042:p.Phe135Val			Missense_Mutation	SNP	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	p.F135V	ENST00000369046.4	37	c.403	CCDS5057.1	6	.	.	.	.	.	.	.	.	.	.	T	31	5.070975	0.93950	.	.	ENSG00000130348	ENST00000369046;ENST00000369044	T;T	0.58060	0.36;0.36	5.6	5.6	0.85130	.	0.048117	0.85682	D	0.000000	T	0.70185	0.3195	M	0.84511	2.7	0.80722	D	1	D;D	0.69078	0.997;0.99	D;P	0.71656	0.974;0.894	T	0.76266	-0.3022	10	0.72032	D	0.01	-24.3455	16.0832	0.81020	0.0:0.0:0.0:1.0	.	135;135	Q9H0R6;Q9H0R6-2	GATA_HUMAN;.	V	135	ENSP00000358042:F135V;ENSP00000358040:F135V	ENSP00000358040:F135V	F	+	1	0	QRSL1	107203615	1.000000	0.71417	0.965000	0.40720	0.930000	0.56654	7.655000	0.83696	2.257000	0.74773	0.528000	0.53228	TTT	QRSL1	-	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	ENSG00000130348		0.368	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	QRSL1	HGNC	protein_coding	OTTHUMT00000041667.1	-	0	23	0	T	NM_018292		107096922	1	tier1	-	no_errors	ENST00000369046	ensembl	human	known	74_37	missense	86.21	4	25	SNP	0.998	G	G	107096922	T	G	107096922	3	3	107	1	0	0	0	0	1	0	0	0	12926	1493	52	4	421	4	QRSL1	6	107096922	Missense_Mutation	SNP	T	TCGA-LN-A49V-01A-11D-A247-09	30368450	107096922	64018145	37	29446											
CDC40	51362	genome.wustl.edu	37	chr6	110541037	110541037	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaataggagatttgtgagCacatctgatgataaaagcct	15	10	11	5	0	1	5	0	3	1	2	1	7	1	5	1	1	2	1	1	1	4	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr6:110541037C>T	ENST00000368932.1	+	13	1406	c.1305C>T	c.(1303-1305)agC>agT	p.S435S	CDC40_ENST00000307731.1_Silent_p.S435S|CDC40_ENST00000368930.1_Silent_p.S435S			O60508	PRP17_HUMAN	cell division cycle 40	435					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		GATTTGTGAGCACATCTGATG	0.373																																																	0													193	175	181					6																	110541037		2203	4300	6503	SO:0001819	synonymous_variant	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"WD repeat domain containing"	17350	protein-coding gene	gene with protein product		605585	"cell division cycle 40 homolog (yeast)", "cell division cycle 40 homolog (S. cerevisiae)"			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1305C>T	6.37:g.110541037C>T			B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S435	ENST00000368932.1	37	c.1305	CCDS5081.1	6																																																																																			CDC40	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000168438		0.373	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	-	0	31	0	C	NM_015891		110541037	1	tier1	-	no_errors	ENST00000307731	ensembl	human	known	74_37	silent	11.76	30	4	SNP	1.000	T	T	110541037	C	T	110541037	2	4	107	1	0	0	0	0	0	0	0	1	3077	709	25	3		3	CDC40	6	110541037	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	3444115	110541037	60574030	38	29447											
AKAP12	9590	genome.wustl.edu	37	chr6	151673538	151673538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccccgtggagagagagatgGtagttcaagtcgaaagggag	12	6	16	7	2	1	2	1	0	0	2	2	7	1	4	2	3	0	2	2	3	3	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr6:151673538G>A	ENST00000253332.1	+	3	4201	c.4012G>A	c.(4012-4014)Gta>Ata	p.V1338I	AKAP12_ENST00000359755.5_Missense_Mutation_p.V1233I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V1240I|AKAP12_ENST00000402676.2_Missense_Mutation_p.V1338I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1338					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGAGAGATGGTAGTTCAAGT	0.473																																					Melanoma(141;1616 1805 10049 24534 51979)												0													96	88	91					6																	151673538		2203	4300	6503	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4012G>A	6.37:g.151673538G>A	ENSP00000253332:p.Val1338Ile		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.V1338I	ENST00000253332.1	37	c.4012	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612445	0.28712	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.08458	3.09;3.09;3.1;3.1	4.34	2.45	0.29901	.	1.476780	0.05082	N	0.483656	T	0.02970	0.0088	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46512	0.879;0.879;0.808	P;P;B	0.48677	0.586;0.586;0.382	T	0.34079	-0.9843	10	0.38643	T	0.18	.	2.039	0.03546	0.1822:0.1568:0.4998:0.1611	.	1233;1240;1338	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	1338;1338;1240;1233	ENSP00000384537:V1338I;ENSP00000253332:V1338I;ENSP00000346702:V1240I;ENSP00000352794:V1233I	ENSP00000253332:V1338I	V	+	1	0	AKAP12	151715231	0.024000	0.19004	0.003000	0.11579	0.032000	0.12392	1.144000	0.31565	0.487000	0.27698	0.557000	0.71058	GTA	AKAP12	-	NULL	ENSG00000131016		0.473	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	-	0	39	0	G			151673538	1	tier1	-	no_errors	ENST00000253332	ensembl	human	known	74_37	missense	25.00	30	10	SNP	0.000	A	A	151673538	G	A	151673538	3	1	107	1	0	0	0	0	1	0	0	0	448	1261	44	3	4051	3	AKAP12	6	151673538	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	41132501	151673538	19441529	39	29448											
ZBTB2	57621	genome.wustl.edu	37	chr6	151687546	151687546	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agatgcttccagattggtctCctccccgggaggagggggag	7	8	16	10	1	1	2	0	0	1	2	4	5	3	5	4	5	1	1	4	5	0	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr6:151687546C>G	ENST00000325144.4	-	3	795	c.655G>C	c.(655-657)Gag>Cag	p.E219Q		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGATTGGTCTCCTCCCCGGGA	0.557																																																	0													97	88	91					6																	151687546		2203	4300	6503	SO:0001583	missense	0			BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"-", "BTB/POZ domain containing", "Zinc fingers, C2H2-type"	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.655G>C	6.37:g.151687546C>G	ENSP00000323183:p.Glu219Gln		A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E219Q	ENST00000325144.4	37	c.655	CCDS5231.1	6	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058070	0.55325	.	.	ENSG00000181472	ENST00000325144	T	0.05025	3.51	5.76	5.76	0.90799	.	0.048080	0.85682	D	0.000000	T	0.08670	0.0215	N	0.24115	0.695	0.58432	D	0.999991	D	0.63880	0.993	D	0.70227	0.968	T	0.50136	-0.8863	10	0.22706	T	0.39	-47.365	19.976	0.97309	0.0:1.0:0.0:0.0	.	219	Q8N680	ZBTB2_HUMAN	Q	219	ENSP00000323183:E219Q	ENSP00000323183:E219Q	E	-	1	0	ZBTB2	151729239	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.574000	0.67424	2.713000	0.92767	0.655000	0.94253	GAG	ZBTB2	-	NULL	ENSG00000181472		0.557	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB2	HGNC	protein_coding	OTTHUMT00000042715.1	-	0	23	0	C	NM_020861		151687546	-1	tier1	-	no_errors	ENST00000325144	ensembl	human	known	74_37	missense	25.49	38	13	SNP	1.000	G	G	151687546	C	G	151687546	3	3	107	1	0	0	0	0	1	0	0	0	17576	864	30	5	893	5	ZBTB2	6	151687546	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	14008	151687546	19427521	40	29449											
RMND1	55005	genome.wustl.edu	37	chr6	151742424	151742424	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcataacttcttcatgAgatagtttcactttcttccc	8	18	4	11	0	5	1	2	1	3	1	6	2	6	1	1	0	2	2	1	0	2	8			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr6:151742424A>T	ENST00000367303.4	-	9	1157	c.1035T>A	c.(1033-1035)tcT>tcA	p.S345S	RMND1_ENST00000336451.3_Silent_p.S134S	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	345					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTTCTTCATGAGATAGTTTCA	0.323																																																	0													76	81	80					6																	151742424		2202	4300	6502	SO:0001819	synonymous_variant	0			AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"chromosome 6 open reading frame 96"	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.1035T>A	6.37:g.151742424A>T			A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Silent	SNP	pfam_DUF155	p.S345	ENST00000367303.4	37	c.1035	CCDS5232.1	6																																																																																			RMND1	-	pfam_DUF155	ENSG00000155906		0.323	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RMND1	HGNC	protein_coding	OTTHUMT00000042718.2	-	0	47	0	A	NM_017909		151742424	-1	tier1	-	no_errors	ENST00000367303	ensembl	human	known	74_37	silent	31.82	30	14	SNP	1.000	T	T	151742424	A	T	151742424	2	4	107	1	0	0	0	0	0	0	0	1	13441	291	11	5		5	RMND1	6	151742424	Silent	SNP	A	TCGA-LN-A49V-01A-11D-A247-09	54878	151742424	19372643	41	29450											
WBSCR27	155368	genome.wustl.edu	37	chr7	73256371	73256371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtagtccggagcccagcGgtcatagaaatggagctttt	9	10	13	9	3	1	1	1	0	0	1	3	3	2	3	2	3	3	2	2	3	3	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr7:73256371G>A	ENST00000297873.4	-	2	149	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	34										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				GGAGCCCAGCGGTCATAGAAA	0.617																																																	0													61	57	58					7																	73256371		2203	4300	6503	SO:0001583	missense	0			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.100C>T	7.37:g.73256371G>A	ENSP00000297873:p.Arg34Cys			Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase	p.R34C	ENST00000297873.4	37	c.100	CCDS5561.1	7	.	.	.	.	.	.	.	.	.	.	G	7.573	0.667198	0.14710	.	.	ENSG00000165171	ENST00000297873	T	0.36157	1.27	4.57	-4.39	0.03611	.	0.866326	0.10521	N	0.665032	T	0.20780	0.0500	L	0.40543	1.245	0.09310	N	1	B;B	0.15930	0.015;0.003	B;B	0.06405	0.002;0.001	T	0.25710	-1.0124	10	0.56958	D	0.05	0.3145	0.2835	0.00248	0.2501:0.2573:0.2441:0.2485	.	34;34	B4DWM3;Q8N6F8	.;WBS27_HUMAN	C	34	ENSP00000297873:R34C	ENSP00000297873:R34C	R	-	1	0	WBSCR27	72894307	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.072000	0.03434	-1.283000	0.02393	-0.314000	0.08810	CGC	WBSCR27	-	pfam_UbiE/COQ5_MeTrFase	ENSG00000165171		0.617	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR27	HGNC	protein_coding	OTTHUMT00000252312.1	-	0	65	0	G	NM_152559		73256371	-1	tier1	-	no_errors	ENST00000297873	ensembl	human	known	74_37	missense	43.08	37	28	SNP	0.005	A	A	73256371	G	A	73256371	3	1	107	1	0	0	0	0	1	0	0	0	17315	1116	39	1	657	1	WBSCR27	7	73256371	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		73256371	85882292	42	29451											
CLIP2	7461	genome.wustl.edu	37	chr7	73790244	73790244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccgagaagtcgcgcGtgctgcagctggaggaggag	8	5	19	9	4	0	1	0	0	0	1	1	5	0	4	1	4	3	3	1	4	1	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr7:73790244G>A	ENST00000395060.1	+	9	1513	c.1513G>A	c.(1513-1515)Gtg>Atg	p.V505M	CLIP2_ENST00000223398.6_Missense_Mutation_p.V505M|CLIP2_ENST00000361545.5_Missense_Mutation_p.V470M			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	505						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGTCGCGCGTGCTGCAGCT	0.657																																																	0													13	12	12					7																	73790244		2189	4291	6480	SO:0001583	missense	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.1513G>A	7.37:g.73790244G>A	ENSP00000378500:p.Val505Met		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.V505M	ENST00000395060.1	37	c.1513	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998096	0.54147	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060;ENST00000537700	T;T;T	0.61627	0.09;0.13;0.09	5.11	4.02	0.46733	.	0.194204	0.45361	D	0.000369	T	0.57257	0.2041	L	0.40543	1.245	0.37150	D	0.902102	D;D	0.61080	0.989;0.982	P;P	0.55965	0.788;0.565	T	0.64516	-0.6389	10	0.72032	D	0.01	-34.209	6.9882	0.24741	0.2411:0.0:0.7589:0.0	.	470;505	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	M	505;505;470;505;47	ENSP00000223398:V505M;ENSP00000355151:V470M;ENSP00000378500:V505M	ENSP00000223398:V505M	V	+	1	0	CLIP2	73428180	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	4.206000	0.58473	2.375000	0.81037	0.558000	0.71614	GTG	CLIP2	-	NULL	ENSG00000106665		0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	-	0	35	0	G	NM_003388		73790244	1	tier1	-	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	A	A	73790244	G	A	73790244	3	1	107	1	0	0	0	0	1	0	0	0	3540	1145	40	1	1547	1	CLIP2	7	73790244	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	533873	73790244	85348419	43	29452											
MBLAC1	255374	genome.wustl.edu	37	chr7	99725388	99725388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggatcacatcgggaacttgGggctgttcccaggcgcggct	6	8	15	12	4	1	0	1	0	0	0	3	2	2	2	1	6	1	3	1	6	1	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr7:99725388G>T	ENST00000398075.2	+	2	769	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	124							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						CGGGAACTTGGGGCTGTTCCC	0.731																																																	0													10	12	12					7																	99725388		1973	4135	6108	SO:0001583	missense	0			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.370G>T	7.37:g.99725388G>T	ENSP00000381150:p.Gly124Trp		Q8N5X8	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.G124W	ENST00000398075.2	37	c.370	CCDS43620.1	7	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880085	0.51801	.	.	ENSG00000214309	ENST00000398075	T	0.80566	-1.39	4.35	4.35	0.52113	Beta-lactamase-like (2);	0.202037	0.31872	U	0.006931	D	0.83594	0.5288	L	0.45422	1.42	0.41335	D	0.987268	D	0.89917	1.0	D	0.91635	0.999	D	0.83797	0.0234	10	0.62326	D	0.03	.	8.3657	0.32385	0.1055:0.0:0.8945:0.0	.	124	A4D2B0	MBLC1_HUMAN	W	124	ENSP00000381150:G124W	ENSP00000381150:G124W	G	+	1	0	MBLAC1	99563324	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	3.302000	0.51849	2.440000	0.82611	0.561000	0.74099	GGG	MBLAC1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	ENSG00000214309		0.731	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC1	HGNC	protein_coding	OTTHUMT00000337353.1	-	0	33	0	G	NM_203397		99725388	1	tier1	-	no_errors	ENST00000398075	ensembl	human	known	74_37	missense	23.53	39	12	SNP	1.000	T	T	99725388	G	T	99725388	3	4	107	1	0	0	0	0	1	0	0	0	9389	1232	43	3	372	3	MBLAC1	7	99725388	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	25935144	99725388	59413275	44	29453											
ABCF2	10061	genome.wustl.edu	37	chr7	150918758	150918758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagacgaggaccaagatgCgcttaaaactgtaaagccaa	16	5	12	8	2	0	2	0	0	0	2	0	5	0	3	2	2	3	2	2	2	6	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr7:150918758C>T	ENST00000287844.2	-	7	936	c.827G>A	c.(826-828)cGc>cAc	p.R276H	ABCF2_ENST00000222388.2_Missense_Mutation_p.R276H|ABCF2_ENST00000473874.1_5'UTR	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	276	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAAGATGCGCTTAAAACT	0.443																																																	0													172	166	168					7																	150918758		2203	4300	6503	SO:0001583	missense	0			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"ATP binding cassette transporters / subfamily F"	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.827G>A	7.37:g.150918758C>T	ENSP00000287844:p.Arg276His		O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R276H	ENST00000287844.2	37	c.827	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002462	0.74932	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073	D;D;T	0.92048	-2.92;-2.96;3.81	5.68	5.68	0.88126	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.109923	0.64402	D	0.000006	T	0.77765	0.4179	N	0.01649	-0.78	0.80722	D	1	P;B	0.38420	0.63;0.258	B;B	0.26094	0.066;0.052	T	0.82010	-0.0669	10	0.41790	T	0.15	0.4624	16.9362	0.86203	0.0:1.0:0.0:0.0	.	276;276	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	H	276	ENSP00000222388:R276H;ENSP00000287844:R276H;ENSP00000419720:R276H	ENSP00000222388:R276H	R	-	2	0	ABCF2	150549691	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.317000	0.79018	2.669000	0.90835	0.561000	0.74099	CGC	ABCF2	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000033050		0.443	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	-	0	33	0	C	NM_005692		150918758	-1	tier1	-	no_errors	ENST00000222388	ensembl	human	known	74_37	missense	16.28	36	7	SNP	1.000	T	T	150918758	C	T	150918758	3	4	107	1	0	0	0	0	1	0	0	0	66	768	27	1	1121	1	ABCF2	7	150918758	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	51193370	150918758	8219905	45	29454											
WDR60	55112	genome.wustl.edu	37	chr7	158695219	158695219	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagaaaatgaaaggatTggcgagttatctttgaaact	16	11	10	4	1	1	3	0	2	1	1	1	5	1	4	0	2	2	2	0	2	6	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr7:158695219T>C	ENST00000407559.3	+	10	1448	c.1290T>C	c.(1288-1290)atT>atC	p.I430I		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	430					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ATGAAAGGATTGGCGAGTTAT	0.378																																																	0													128	121	123					7																	158695219		1837	4093	5930	SO:0001819	synonymous_variant	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"WD repeat domain containing"	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1290T>C	7.37:g.158695219T>C			Q9NW58	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.I430	ENST00000407559.3	37	c.1290	CCDS47757.1	7																																																																																			WDR60	-	NULL	ENSG00000126870		0.378	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	-	0	27	0	T	NM_018051		158695219	1	tier1	-	no_errors	ENST00000407559	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.962	C	C	158695219	T	C	158695219	2	2	107	1	0	0	0	0	0	0	0	1	17360	1800	63	4		4	WDR60	7	158695219	Silent	SNP	T	TCGA-LN-A49V-01A-11D-A247-09	7776461	158695219	443444	46	29455											
SGK223	157285	genome.wustl.edu	37	chr8	8233763	8233763	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagacaatggtactcacCgcgactttggaggcggagga	11	6	15	9	3	1	1	1	0	0	1	1	5	1	4	1	6	1	2	1	6	2	2	rs375344955		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr8:8233763C>T	ENST00000520004.1	-	3	2420	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	SGK223_ENST00000330777.4_Splice_Site_p.R719Q			Q86YV5	SG223_HUMAN		721							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R719Q(1)									TGGTACTCACCGCGACTTTGG	0.552																																					GBM(34;731 755 10259 33573 33867)												1	Substitution - Missense(1)	lung(1)						C	GLN/ARG	0,3886		0,0,1943	83	92	89		2156	5.4	1	8		89	1,8261		0,1,4130	no	missense-near-splice	SGK223	NM_001080826.1	43	0,1,6073	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	719/1403	8233763	1,12147	1943	4131	6074	SO:0001630	splice_region_variant	0																														ENST00000520004.1:c.2156+1G>A	8.37:g.8233763C>T			Q8N3N5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.R719Q	ENST00000520004.1	37	c.2156	CCDS43706.1	8	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810400	0.70797	0.0	1.21E-4	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.62364	0.03;0.03	5.42	5.42	0.78866	.	0.445889	0.21694	N	0.070526	T	0.64670	0.2619	N	0.19112	0.55	0.36020	D	0.83864	D	0.89917	1.0	D	0.79108	0.992	T	0.66999	-0.5781	9	.	.	.	.	12.5858	0.56416	0.0:0.9195:0.0:0.0805	.	719	Q86YV5	SG223_HUMAN	Q	719	ENSP00000330930:R719Q;ENSP00000428054:R719Q	.	R	-	2	0	AC068353.1	8271173	0.992000	0.36948	0.986000	0.45419	0.477000	0.33069	2.700000	0.47085	2.725000	0.93324	0.655000	0.94253	CGG	SGK223	-	NULL	ENSG00000182319		0.552	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK223	Uniprot_gn	protein_coding	OTTHUMT00000374864.1	-	0	63	0	C		Missense_Mutation	8233763	-1	tier1	-	no_errors	ENST00000330777	ensembl	human	known	74_37	missense	32.95	58	29	SNP	0.995	T	T	8233763	C	T	8233763	5	4	107	1	0	0	0	0	0	0	1	0	14255	666	23	1	2068	1	SGK223	8	8233763	Splice_Site	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		8233763	138130259	47	29456											
POTEA	340441	genome.wustl.edu	37	chr8	43152432	43152432	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtctaatactgacaggccGtacaatgccaggaggatgaa	13	8	12	8	1	1	2	0	2	1	0	1	4	1	4	2	4	3	1	2	4	5	3	rs376823659|rs370204067	byFrequency	TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr8:43152432G>A	ENST00000522175.2	+	0	420							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGACAGGCCGTACAATGCCA	0.373													g|||	3	0.000599042	0	0	5008	,	,		19441	0.001		0.001	False		,,,				2504	0.001																0								G	ILE/VAL,ILE/VAL	0,4398		0,0,2199	92	90	90		418,418	-2.7	0	8		90	2,8594	2.2+/-6.3	0,2,4296	no	missense,missense	POTEA	NM_001002920.1,NM_001005365.2	29,29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	140/453,140/499	43152432	2,12992	2199	4298	6497			0			AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"POTE ankyrin domain containing", "Ankyrin repeat domain containing"	33893	protein-coding gene	gene with protein product	"cancer/testis antigen family 104, member 3"	608915	"ANKRD26-like family A, member 1"	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43152432G>A			A6ND17|A6ND71|Q6S8J6	RNA	SNP	-	NULL	ENST00000522175.2	37	NULL		8																																																																																			POTEA	-	-	ENSG00000188877		0.373	POTEA-003	KNOWN	basic	processed_transcript	POTEA	HGNC	pseudogene	OTTHUMT00000383492.1	-	0	126	0	G	NM_001002920		43152432	1	tier1	-	no_errors	ENST00000522175	ensembl	human	known	74_37	rna	12.33	128	18	SNP	0.842	A	A	43152432	G	A	43152432	1	1	107	0	1	0	0	0	0	0	0	0	12300	1145	40	1		1	POTEA	8	43152432	RNA	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	34918669	43152432	103211590	48	29457											
CA8	767	genome.wustl.edu	37	chr8	61121437	61121437	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccttccacaagttcTgcccccttaacatgtgtcct	8	12	5	16	0	2	0	1	0	1	0	4	0	4	0	5	0	3	1	5	0	2	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr8:61121437T>C	ENST00000317995.4	-	8	1044	c.780A>G	c.(778-780)gcA>gcG	p.A260A		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	260					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	CCACAAGTTCTGCCCCCTTAA	0.413																																																	0													115	103	107					8																	61121437		2203	4300	6503	SO:0001819	synonymous_variant	0			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"Carbonic anhydrases"	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.780A>G	8.37:g.61121437T>C			A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.A260	ENST00000317995.4	37	c.780	CCDS6174.1	8																																																																																			CA8	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000178538		0.413	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	HGNC	protein_coding	OTTHUMT00000383445.1	-	0	76	0	T			61121437	-1	tier1	-	no_errors	ENST00000317995	ensembl	human	known	74_37	silent	7.95	81	7	SNP	1.000	C	C	61121437	T	C	61121437	2	2	107	1	0	0	0	0	0	0	0	1	2530	1567	55	4		4	CA8	8	61121437	Silent	SNP	T	TCGA-LN-A49V-01A-11D-A247-09	17969005	61121437	85242585	49	29458											
SULF1	23213	genome.wustl.edu	37	chr8	70541903	70541903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccactggcagacagcccCgttctggaaccgtaagttgc	10	7	10	14	2	1	1	0	0	1	1	1	2	1	2	4	2	4	4	4	2	3	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr8:70541903C>T	ENST00000260128.4	+	19	2990	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P758L|SULF1_ENST00000402687.4_Missense_Mutation_p.P758L|SULF1_ENST00000458141.2_Missense_Mutation_p.P758L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	758					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGACAGCCCCGTTCTGGAAC	0.522																																																	0													143	133	137					8																	70541903		2203	4300	6503	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2273C>T	8.37:g.70541903C>T	ENSP00000260128:p.Pro758Leu		Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.P758L	ENST00000260128.4	37	c.2273	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961626	0.92791	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	4.75	4.75	0.60458	Alkaline-phosphatase-like, core domain (1);	0.055118	0.85682	D	0.000000	T	0.32912	0.0845	M	0.86502	2.82	0.80722	D	1	D	0.76494	0.999	P	0.54544	0.755	T	0.39881	-0.9592	10	0.87932	D	0	.	17.9404	0.89025	0.0:1.0:0.0:0.0	.	758	Q8IWU6	SULF1_HUMAN	L	758	ENSP00000403040:P758L;ENSP00000260128:P758L;ENSP00000385704:P758L;ENSP00000390315:P758L	ENSP00000260128:P758L	P	+	2	0	SULF1	70704457	1.000000	0.71417	0.949000	0.38748	0.929000	0.56500	7.622000	0.83099	2.440000	0.82611	0.655000	0.94253	CCG	SULF1	-	superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000137573		0.522	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	HGNC	protein_coding	OTTHUMT00000378885.2	-	0	29	0	C	NM_015170		70541903	1	tier1	-	no_errors	ENST00000260128	ensembl	human	known	74_37	missense	25.45	41	14	SNP	1.000	T	T	70541903	C	T	70541903	3	4	107	1	0	0	0	0	1	0	0	0	15417	652	23	1	2331	1	SULF1	8	70541903	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	9420466	70541903	75822119	50	29459											
EIF3E	3646	genome.wustl.edu	37	chr8	109252218	109252218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catttgccttgtagtttctgGatcttcaaacatcttcacaa	10	16	5	10	0	5	0	2	0	3	0	5	1	5	1	1	1	2	2	1	1	3	6			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr8:109252218G>A	ENST00000220849.5	-	3	354	c.292C>T	c.(292-294)Cca>Tca	p.P98S	EIF3E_ENST00000519030.1_Missense_Mutation_p.P5S	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GTAGTTTCTGGATCTTCAAAC	0.348																																					GBM(15;360 410 8460 34179 52246)												0													203	187	192					8																	109252218		2203	4300	6503	SO:0001583	missense	0			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.292C>T	8.37:g.109252218G>A	ENSP00000220849:p.Pro98Ser			Missense_Mutation	SNP	pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e	p.P98S	ENST00000220849.5	37	c.292	CCDS6308.1	8	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251297	0.59212	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000518345	T;T	0.46451	0.9;0.87	5.67	4.75	0.60458	Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);	0.051464	0.85682	D	0.000000	T	0.49898	0.1584	M	0.77313	2.365	0.80722	D	1	B;P;B	0.39352	0.063;0.669;0.097	B;B;B	0.41374	0.068;0.355;0.196	T	0.54357	-0.8306	10	0.45353	T	0.12	-5.0927	16.599	0.84804	0.0:0.0:0.8696:0.1304	.	98;98;98	Q6IAX5;B2R806;P60228	.;.;EIF3E_HUMAN	S	98;5;49	ENSP00000220849:P98S;ENSP00000428796:P5S	ENSP00000220849:P98S	P	-	1	0	EIF3E	109321394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.404000	0.73268	2.833000	0.97629	0.585000	0.79938	CCA	EIF3E	-	pfam_eIF3e_N,pirsf_eIF3e	ENSG00000104408		0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3E	HGNC	protein_coding	OTTHUMT00000380612.2	-	0	74	0	G	NM_001568		109252218	-1	tier1	-	no_errors	ENST00000220849	ensembl	human	known	74_37	missense	19.79	150	37	SNP	1.000	A	A	109252218	G	A	109252218	3	1	107	1	0	0	0	0	1	0	0	0	5031	1174	41	3	1089	3	EIF3E	8	109252218	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	38710315	109252218	37111804	51	29460											
TOP1MT	116447	genome.wustl.edu	37	chr8	144399896	144399897	+	Frame_Shift_Ins	INS	-	-	C																															tgtggggcaggctcaccgcgINScgtcagggcccgcagctgct																								rs200378024		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr8:144399896_144399897insC	ENST00000329245.4	-	10	1360_1361	c.1326_1327insG	c.(1324-1329)acgcgcfs	p.R443fs	TOP1MT_ENST00000523676.1_Frame_Shift_Ins_p.R345fs|TOP1MT_ENST00000521193.1_Frame_Shift_Ins_p.R345fs|TOP1MT_ENST00000519148.1_Frame_Shift_Ins_p.R345fs|AC087793.1_ENST00000585120.1_RNA	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	443					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GGCTCACCGCGCGTCAGGGCCC	0.693																																																	0																																										SO:0001589	frameshift_variant	0			AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1327dupG	8.37:g.144399897_144399897dupC	ENSP00000328835:p.Arg443fs		B7ZAR5|E7ES89|Q86ST4|Q86V82	Frame_Shift_Ins	INS	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.R442fs	ENST00000329245.4	37	c.1327_1326	CCDS6400.1	8																																																																																			TOP1MT	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk	ENSG00000184428		0.693	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1MT	HGNC	protein_coding	OTTHUMT00000381247.3		0	46	0	-	NM_052963		144399897	-1	tier1		no_errors	ENST00000329245	ensembl	human	known	74_37	frame_shift_ins	44.83	48	39	INS	0.199:0.214	C	C	144399897	-	C	144399896	7	5	107	1	0	1	1	0	0	0	0	0	16412	1087	38	0	498	0	TOP1MT	8	144399896	Frame_Shift_Ins	INS	-	TCGA-LN-A49V-01A-11D-A247-09	35147678	144399896	1964126	52	29461											
UBQLN1	29979	genome.wustl.edu	37	chr9	86294848	86294848	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccatgatctggaccatcaTttcagggttagacaaaagtt	12	13	8	8	0	3	2	2	1	1	1	4	3	4	3	2	2	0	2	2	2	3	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr9:86294848T>C	ENST00000376395.4	-	4	1076	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	UBQLN1_ENST00000257468.7_Missense_Mutation_p.M185V	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	185					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TGGACCATCATTTCAGGGTTA	0.448																																					Melanoma(186;1284 2073 12755 14558 18426)												0													173	166	168					9																	86294848		2203	4300	6503	SO:0001583	missense	0			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"Ubiquilin family"	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.553A>G	9.37:g.86294848T>C	ENSP00000365576:p.Met185Val		Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.M185V	ENST00000376395.4	37	c.553	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676306	0.47886	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	D;D	0.84370	-1.84;-1.84	5.69	5.69	0.88448	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	L	0.57536	1.79	0.51233	D	0.999913	B;B	0.31752	0.338;0.209	B;B	0.38755	0.281;0.073	T	0.83099	-0.0129	10	0.44086	T	0.13	.	12.2011	0.54326	0.1275:0.0:0.0:0.8725	.	185;185	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	V	185	ENSP00000365576:M185V;ENSP00000257468:M185V	ENSP00000257468:M185V	M	-	1	0	UBQLN1	85484668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.066000	0.64351	2.170000	0.68504	0.528000	0.53228	ATG	UBQLN1	-	smart_STI1_HS-bd	ENSG00000135018		0.448	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	-	0	64	0	T	NM_013438		86294848	-1	tier1	-	no_errors	ENST00000376395	ensembl	human	known	74_37	missense	72.22	20	52	SNP	1.000	C	C	86294848	T	C	86294848	3	2	107	1	0	0	0	0	1	0	0	0	16945	1493	52	4	1248	4	UBQLN1	9	86294848	Missense_Mutation	SNP	T	TCGA-LN-A49V-01A-11D-A247-09		86294848	54918583	53	29462											
AGTPBP1	23287	genome.wustl.edu	37	chr9	88292466	88292466	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatttgtgaaccacctttGgtgactaagaaactcactct	13	13	6	9	0	2	3	1	2	1	1	2	3	2	3	2	1	2	0	2	1	5	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr9:88292466G>T	ENST00000357081.3	-	6	465	c.321C>A	c.(319-321)acC>acA	p.T107T	AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376080.1_Silent_p.T49T|AGTPBP1_ENST00000376109.3_Silent_p.T159T|AGTPBP1_ENST00000337006.4_Silent_p.T49T|AGTPBP1_ENST00000376083.3_Silent_p.T107T|AGTPBP1_ENST00000376081.4_Silent_p.T107T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	107					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AACCACCTTTGGTGACTAAGA	0.299																																																	0													115	112	113					9																	88292466		2203	4300	6503	SO:0001819	synonymous_variant	0			AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 1", "tubulinyl-Tyr carboxypeptidase", "carboxypeptidase-tubulin", "tyrosine carboxypeptidase", "soluble carboxypeptidase"	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.321C>A	9.37:g.88292466G>T			B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T159	ENST00000357081.3	37	c.477		9																																																																																			AGTPBP1	-	superfamily_ARM-type_fold	ENSG00000135049		0.299	AGTPBP1-004	KNOWN	basic	protein_coding	AGTPBP1	HGNC	protein_coding	OTTHUMT00000052893.1	-	0	14	0	G	NM_015239		88292466	-1	tier1	-	no_errors	ENST00000376109	ensembl	human	known	74_37	silent	20.00	20	5	SNP	0.998	T	T	88292466	G	T	88292466	2	4	107	1	0	0	0	0	0	0	0	1	400	1335	47	3		3	AGTPBP1	9	88292466	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	1997618	88292466	52920965	54	29463											
BAT2L1	84726	genome.wustl.edu	37	chr9	134321903	134321903	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggagatggagccccctcCtcggcatgtaccagcgattc	8	7	12	14	3	0	1	0	0	0	1	3	4	1	2	4	3	3	2	4	3	1	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr9:134321903C>G	ENST00000357304.4	+	6	784	c.729C>G	c.(727-729)tcC>tcG	p.S243S	PRRC2B_ENST00000372249.1_5'Flank|PRRC2B_ENST00000458550.1_Silent_p.S243S|PRRC2B_ENST00000405995.1_Silent_p.S243S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	243							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGCCCCCTCCTCGGCATGTA	0.597																																																	0													51	51	51					9																	134321903		1948	4139	6087	SO:0001819	synonymous_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"KIAA0515", "HLA-B associated transcript 2-like", "HLA-B associated transcript 2-like 1"	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.729C>G	9.37:g.134321903C>G			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	pfam_BAT2_N	p.S243	ENST00000357304.4	37	c.729	CCDS48044.1	9																																																																																			PRRC2B	-	NULL	ENSG00000130723		0.597	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0	61	0	C			134321903	1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	silent	12.94	74	11	SNP	1.000	G	G	134321903	C	G	134321903	2	3	107	1	0	0	0	0	0	0	0	1	1321	668	24	5		5	BAT2L1	9	134321903	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	46029437	134321903	6891528	55	29464											
KCNT1	57582	genome.wustl.edu	37	chr9	138662861	138662861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagcaggaggagaagcGgaagaagagggccttctcgg	12	5	16	8	2	2	3	1	0	1	3	3	6	2	5	1	5	2	1	1	5	4	2	rs141281093	byFrequency	TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr9:138662861G>A	ENST00000263604.3	+	18	1871	c.1871G>A	c.(1870-1872)cGg>cAg	p.R624Q	KCNT1_ENST00000488444.2_Missense_Mutation_p.R624Q|KCNT1_ENST00000486577.2_Missense_Mutation_p.R604Q|KCNT1_ENST00000490355.2_Missense_Mutation_p.R624Q|KCNT1_ENST00000491806.2_Missense_Mutation_p.R610Q|KCNT1_ENST00000487664.1_Missense_Mutation_p.R598Q|KCNT1_ENST00000298480.5_Missense_Mutation_p.R643Q|KCNT1_ENST00000371757.2_Missense_Mutation_p.R643Q			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	624					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAGGAGAAGCGGAAGAAGAGG	0.662																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53	47	49		1928	0.2	0.6	9	dbSNP_134	49	4,8596	3.7+/-12.6	0,4,4296	yes	missense	KCNT1	NM_020822.2	43	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	643/1236	138662861	5,13001	2203	4300	6503	SO:0001583	missense	0			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1871G>A	9.37:g.138662861G>A	ENSP00000263604:p.Arg624Gln		B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.R643Q	ENST00000263604.3	37	c.1928		9	.	.	.	.	.	.	.	.	.	.	G	0.179	-1.064151	0.01934	2.27E-4	4.65E-4	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.21191	2.03;2.02;2.02;2.04	3.88	0.174	0.15040	.	0.183165	0.26126	N	0.026193	T	0.04679	0.0127	N	0.00823	-1.155	0.26488	N	0.974989	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.41770	-0.9490	10	0.08599	T	0.76	-13.9017	7.4438	0.27198	0.72:0.0:0.28:0.0	.	610;643;598;624	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	Q	598;643;643;604;610;624;624;624	ENSP00000417851:R598Q;ENSP00000298480:R643Q;ENSP00000360822:R643Q;ENSP00000263604:R624Q	ENSP00000263604:R624Q	R	+	2	0	KCNT1	137802682	1.000000	0.71417	0.607000	0.28956	0.298000	0.27526	2.784000	0.47774	-0.141000	0.11374	-0.373000	0.07131	CGG	KCNT1	-	NULL	ENSG00000107147		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		-	0	50	0	G	NM_020822		138662861	1	tier1	rs141281093	no_errors	ENST00000298480	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	A	A	138662861	G	A	138662861	3	1	107	1	0	0	0	0	1	0	0	0	8118	1116	39	1	1998	1	KCNT1	9	138662861	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	4340958	138662861	2550570	56	29465											
NOTCH1	4851	genome.wustl.edu	37	chr9	139399766	139399766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgcagccttacttgcActggccttccgcacgctggc	5	8	10	18	3	0	0	0	0	0	0	1	0	1	0	5	2	4	4	5	2	1	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr9:139399766A>G	ENST00000277541.6	-	25	4657	c.4582T>C	c.(4582-4584)Tgc>Cgc	p.C1528R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1528					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTTACTTGCACTGGCCTTCC	0.622			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													18	21	20					9																	139399766		2116	4241	6357	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4582T>C	9.37:g.139399766A>G	ENSP00000277541:p.Cys1528Arg		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.C1528R	ENST00000277541.6	37	c.4582	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	A	15.73	2.920754	0.52653	.	.	ENSG00000148400	ENST00000277541	D	0.84589	-1.87	4.08	4.08	0.47627	Notch domain (4);	0.000000	0.85682	U	0.000000	D	0.92704	0.7681	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93636	0.6960	10	0.87932	D	0	.	12.2243	0.54451	1.0:0.0:0.0:0.0	.	1528	P46531	NOTC1_HUMAN	R	1528	ENSP00000277541:C1528R	ENSP00000277541:C1528R	C	-	1	0	NOTCH1	138519587	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	8.629000	0.90983	1.479000	0.48272	0.472000	0.43445	TGC	NOTCH1	-	superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom	ENSG00000148400		0.622	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	18	0	A	NM_017617		139399766	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	73.91	6	17	SNP	1.000	G	G	139399766	A	G	139399766	3	3	107	1	0	0	0	0	1	0	0	0	10586	159	6	4	3125	4	NOTCH1	9	139399766	Missense_Mutation	SNP	A	TCGA-LN-A49V-01A-11D-A247-09	736905	139399766	1813665	57	29466											
EHMT1	79813	genome.wustl.edu	37	chr9	140611421	140611421	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggactaccagcactctGgcctcttcgctgcctggcca	6	10	10	15	1	2	1	0	1	2	0	3	2	2	2	4	3	3	2	4	3	1	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr9:140611421G>T	ENST00000460843.1	+	3	456	c.429G>T	c.(427-429)ctG>ctT	p.L143L	EHMT1_ENST00000462484.1_Silent_p.L143L|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.L112L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	143					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCAGCACTCTGGCCTCTTCGC	0.597																																																	0													60	62	62					9																	140611421		2202	4300	6502	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases", "Ankyrin repeat domain containing"	24650	protein-coding gene	gene with protein product		607001	"euchromatic histone methyltransferase 1"			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.429G>T	9.37:g.140611421G>T			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.L143	ENST00000460843.1	37	c.429	CCDS7050.2	9																																																																																			EHMT1	-	NULL	ENSG00000181090		0.597	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0	36	0	G	NM_024757		140611421	1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.920	T	T	140611421	G	T	140611421	2	4	107	1	0	0	0	0	0	0	0	1	4997	1335	47	3		3	EHMT1	9	140611421	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	1211655	140611421	602010	58	29467											
ANKRD16	54522	genome.wustl.edu	37	chr10	5920183	5920183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgatgtcttcagaatcCttcagtcccgactgcaggag	8	10	10	13	2	3	2	2	1	1	1	5	4	5	3	3	1	1	1	3	1	1	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:5920183C>T	ENST00000380094.5	-	7	1539	c.996G>A	c.(994-996)aaG>aaA	p.K332K	ANKRD16_ENST00000191063.8_3'UTR|ANKRD16_ENST00000380092.4_Silent_p.K332K	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	332										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CTTCAGAATCCTTCAGTCCCG	0.542																																																	0													126	120	122					10																	5920183		2203	4300	6503	SO:0001819	synonymous_variant	0			AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"Ankyrin repeat domain containing"	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.996G>A	10.37:g.5920183C>T			A6NEF0|F8WEI4|Q9NT01	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.K332	ENST00000380094.5	37	c.996	CCDS31136.1	10																																																																																			ANKRD16	-	smart_Ankyrin_rpt	ENSG00000134461		0.542	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD16	HGNC	protein_coding	OTTHUMT00000046611.2	-	0	27	0	C	XM_166138		5920183	-1	tier1	-	no_errors	ENST00000380092	ensembl	human	known	74_37	silent	29.41	12	5	SNP	0.694	T	T	5920183	C	T	5920183	2	4	107	1	0	0	0	0	0	0	0	1	645	680	24	3		3	ANKRD16	10	5920183	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		5920183	129614564	59	29468											
ARMC4	55130	genome.wustl.edu	37	chr10	28229562	28229562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagaagtcttcagcagcCgagccaacagaggaatgccc	13	5	11	12	1	2	2	1	1	1	2	2	5	2	3	3	1	5	1	3	1	3	1	rs148908705		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:28229562C>T	ENST00000305242.5	-	13	2008	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	ARMC4_ENST00000537576.1_Missense_Mutation_p.R331Q|ARMC4_ENST00000545014.1_Missense_Mutation_p.R164Q	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	639					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R639Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTTCAGCAGCCGAGCCAACAG	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)						C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	114	100	105		1916	-0.9	0	10	dbSNP_134	105	0,8600		0,0,4300	no	missense	ARMC4	NM_018076.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	639/1045	28229562	2,13004	2203	4300	6503	SO:0001583	missense	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"Armadillo repeat containing"	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1916G>A	10.37:g.28229562C>T	ENSP00000306410:p.Arg639Gln		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.R639Q	ENST00000305242.5	37	c.1916	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	C	7.143	0.582255	0.13749	4.54E-4	0.0	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	T;T;T	0.67865	-0.29;-0.29;-0.29	5.24	-0.932	0.10435	Armadillo-like helical (1);Armadillo-type fold (2);	0.376195	0.30347	N	0.009821	T	0.50137	0.1598	L	0.40543	1.245	0.09310	N	0.999999	B;B	0.27416	0.178;0.004	B;B	0.21708	0.036;0.008	T	0.35375	-0.9791	10	0.20046	T	0.44	-2.1552	11.6701	0.51396	0.0:0.4794:0.0:0.5206	.	164;639	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	Q	331;639;164	ENSP00000443208:R331Q;ENSP00000306410:R639Q;ENSP00000441076:R164Q	ENSP00000306410:R639Q	R	-	2	0	ARMC4	28269568	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.014000	0.12656	-0.143000	0.11334	-0.137000	0.14449	CGG	ARMC4	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000169126		0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	-	0	28	0	C	NM_018076		28229562	-1	tier1	rs148908705	no_errors	ENST00000305242	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.001	T	T	28229562	C	T	28229562	3	4	107	1	0	0	0	0	1	0	0	0	954	652	23	1	1250	1	ARMC4	10	28229562	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	22309379	28229562	107305185	60	29469											
ALOX5	240	genome.wustl.edu	37	chr10	45907711	45907711	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggatttaccccgtgatatCcagtttgatagtgaaaaagg	14	11	10	6	1	0	3	0	3	0	0	1	4	1	4	3	2	1	1	3	2	6	5			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:45907711C>A	ENST00000374391.2	+	4	557	c.504C>A	c.(502-504)atC>atA	p.I168I	ALOX5_ENST00000542434.1_Silent_p.I168I	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	168	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CCCGTGATATCCAGTTTGATA	0.483																																																	0													128	120	123					10																	45907711		2203	4300	6503	SO:0001819	synonymous_variant	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.504C>A	10.37:g.45907711C>A			B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.I168	ENST00000374391.2	37	c.504	CCDS7212.1	10																																																																																			ALOX5	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000012779		0.483	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	-	0	62	0	C			45907711	1	tier1	-	no_errors	ENST00000374391	ensembl	human	known	74_37	silent	37.10	39	23	SNP	1.000	A	A	45907711	C	A	45907711	2	1	107	1	0	0	0	0	0	0	0	1	540	845	30	3		3	ALOX5	10	45907711	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	17678149	45907711	89627036	61	29470											
KIAA1279	26128	genome.wustl.edu	37	chr10	70775906	70775906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaataaagtattccctgagCatataggggaagatgttctt	14	12	9	6	0	1	2	0	1	1	1	2	3	2	3	1	2	1	3	1	2	7	7			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:70775906C>T	ENST00000361983.4	+	7	1702	c.1600C>T	c.(1600-1602)Cat>Tat	p.H534Y		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	534					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ATTCCCTGAGCATATAGGGGA	0.408																																																	0													90	87	88					10																	70775906		2203	4300	6503	SO:0001583	missense	0			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1600C>T	10.37:g.70775906C>T	ENSP00000354848:p.His534Tyr		A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.H534Y	ENST00000361983.4	37	c.1600	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249663	0.39797	.	.	ENSG00000198954	ENST00000361983	T	0.42513	0.97	5.75	5.75	0.90469	.	0.277325	0.42420	D	0.000711	T	0.23492	0.0568	N	0.08118	0	0.33469	D	0.586007	P	0.41498	0.752	B	0.38655	0.278	T	0.36578	-0.9742	10	0.62326	D	0.03	-16.3477	9.685	0.40094	0.2968:0.5837:0.1195:0.0	.	534	Q96EK5	KBP_HUMAN	Y	534	ENSP00000354848:H534Y	ENSP00000354848:H534Y	H	+	1	0	KIAA1279	70445912	0.994000	0.37717	0.999000	0.59377	0.999000	0.98932	1.867000	0.39499	2.725000	0.93324	0.655000	0.94253	CAT	KIAA1279	-	pfam_KBP	ENSG00000198954		0.408	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	-	0	42	0	C	NM_015634		70775906	1	tier1	-	no_errors	ENST00000361983	ensembl	human	known	74_37	missense	22.45	38	11	SNP	1.000	T	T	70775906	C	T	70775906	3	4	107	1	0	0	0	0	1	0	0	0	8248	710	25	3	1626	3	KIAA1279	10	70775906	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	24868195	70775906	64758841	62	29471											
OPN4	94233	genome.wustl.edu	37	chr10	88422152	88422152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctggatctccatacGgaggcgccaggagtccctgg	7	7	13	14	2	2	0	1	0	1	0	4	3	3	3	4	5	2	1	4	5	1	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:88422152G>A	ENST00000241891.5	+	8	1384	c.1217G>A	c.(1216-1218)cGg>cAg	p.R406Q	OPN4_ENST00000372071.2_Missense_Mutation_p.R417Q	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	406					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						ATCTCCATACGGAGGCGCCAG	0.672																																																	0													36	24	28					10																	88422152		2187	4284	6471	SO:0001583	missense	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"GPCR / Class A : Opsin receptors"	14449	protein-coding gene	gene with protein product	"melanopsin"	606665	"opsin 4 (melanopsin)"			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1217G>A	10.37:g.88422152G>A	ENSP00000241891:p.Arg406Gln		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.R417Q	ENST00000241891.5	37	c.1250	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537242	0.27475	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.34859	1.34;1.34;1.34	5.39	3.52	0.40303	.	0.375026	0.24960	N	0.034236	T	0.32971	0.0847	M	0.72118	2.19	0.09310	N	1	B;B;B	0.24132	0.059;0.059;0.098	B;B;B	0.14578	0.005;0.005;0.011	T	0.23368	-1.0190	10	0.33940	T	0.23	.	7.0635	0.25139	0.1442:0.0:0.7175:0.1383	.	417;406;417	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	Q	417;406;417	ENSP00000361141:R417Q;ENSP00000241891:R406Q;ENSP00000393132:R417Q	ENSP00000241891:R406Q	R	+	2	0	OPN4	88412132	0.000000	0.05858	0.185000	0.23176	0.499000	0.33736	0.611000	0.24268	0.638000	0.30545	0.655000	0.94253	CGG	OPN4	-	NULL	ENSG00000122375		0.672	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	-	0	89	0	G	NM_033282		88422152	1	tier1	-	no_errors	ENST00000372071	ensembl	human	known	74_37	missense	16.67	55	11	SNP	0.005	A	A	88422152	G	A	88422152	3	1	107	1	0	0	0	0	1	0	0	0	10921	1116	39	1	1284	1	OPN4	10	88422152	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	17646246	88422152	47112595	63	29472											
RNLS	55328	genome.wustl.edu	37	chr10	90122339	90122339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttattatcaatggagaCgaagcgtatgcagggattac	12	12	10	7	2	2	1	1	0	1	1	2	4	2	2	0	2	3	2	0	2	6	5			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:90122339C>T	ENST00000331772.4	-	5	692	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	RNLS_ENST00000371947.3_Missense_Mutation_p.V224I|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.V141I	NM_001031709.2	NP_001026879.2	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	224					cardiac left ventricle morphogenesis (GO:0003214)|dopamine metabolic process (GO:0042417)|epinephrine metabolic process (GO:0042414)|heart contraction (GO:0060047)|norepinephrine metabolic process (GO:0042415)|phosphate ion homeostasis (GO:0055062)|regulation of systemic arterial blood pressure (GO:0003073)|response to epinephrine (GO:0071871)|response to ischemia (GO:0002931)|response to norepinephrine (GO:0071873)|response to salt (GO:1902074)	extracellular space (GO:0005615)	oxidoreductase activity (GO:0016491)			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TCAATGGAGACGAAGCGTATG	0.438																																																	0													161	152	155					10																	90122339		2203	4300	6503	SO:0001583	missense	0			BC005364	CCDS7388.1, CCDS31239.1	10q23.31	2009-04-22	2009-04-22	2009-04-22	ENSG00000184719	ENSG00000184719			25641	protein-coding gene	gene with protein product		609360	"chromosome 10 open reading frame 59"	C10orf59		15841207, 17565281	Standard	NM_001031709		Approved	FLJ11218, renalase	uc001kfe.3	Q5VYX0	OTTHUMG00000018692	ENST00000331772.4:c.670G>A	10.37:g.90122339C>T	ENSP00000332530:p.Val224Ile		Q9BS33|Q9NUP8	Missense_Mutation	SNP	pfam_Amino_oxidase	p.V224I	ENST00000331772.4	37	c.670	CCDS31239.1	10	.	.	.	.	.	.	.	.	.	.	C	4.990	0.183841	0.09495	.	.	ENSG00000184719	ENST00000371947;ENST00000437752;ENST00000331772	D;T;D	0.92752	-3.1;1.05;-3.1	6.07	-5.8	0.02347	Amine oxidase (1);	0.340228	0.33895	N	0.004446	T	0.67107	0.2858	N	0.00633	-1.31	0.22903	N	0.99858	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.68477	-0.5398	10	0.08837	T	0.75	.	11.0038	0.47622	0.0:0.1627:0.0871:0.7502	.	141;224;224	B4DJW3;Q5VYX0;Q5VYX0-2	.;RNLS_HUMAN;.	I	224;141;224	ENSP00000361015:V224I;ENSP00000387577:V141I;ENSP00000332530:V224I	ENSP00000332530:V224I	V	-	1	0	RNLS	90112319	1.000000	0.71417	0.971000	0.41717	0.981000	0.71138	0.628000	0.24522	-0.669000	0.05289	-0.998000	0.02512	GTC	RNLS	-	pfam_Amino_oxidase	ENSG00000184719		0.438	RNLS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNLS	HGNC	protein_coding	OTTHUMT00000049250.1	-	0	47	0	C	NM_018363		90122339	-1	tier1	-	no_errors	ENST00000331772	ensembl	human	known	74_37	missense	44.68	26	21	SNP	0.966	T	T	90122339	C	T	90122339	3	4	107	1	0	0	0	0	1	0	0	0	13550	536	19	1	446	1	RNLS	10	90122339	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	1700187	90122339	45412408	64	29473											
NFKB2	4791	genome.wustl.edu	37	chr10	104161038	104161038	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcctgagaaggacaccCgaagcagcttccggggccac	11	3	14	13	2	0	1	0	1	0	1	1	4	1	2	4	4	2	2	4	4	3	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:104161038C>T	ENST00000369966.3	+	19	2423	c.2173C>T	c.(2173-2175)Cga>Tga	p.R725*	NFKB2_ENST00000428099.1_Nonsense_Mutation_p.R725*|NFKB2_ENST00000189444.6_Nonsense_Mutation_p.R725*	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	725			Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT).		extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	GAAGGACACCCGAAGCAGCTT	0.607			T	IGH@	B-NHL																																			Dom	yes		10	10q24	4791	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)		L	0													75	82	80					10																	104161038		2066	4206	6272	SO:0001587	stop_gained	0			X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"Ankyrin repeat domain containing"	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.2173C>T	10.37:g.104161038C>T	ENSP00000358983:p.Arg725*		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Nonsense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.R725*	ENST00000369966.3	37	c.2173	CCDS41564.1	10	.	.	.	.	.	.	.	.	.	.	c	36	5.858527	0.97036	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	.	.	.	4.39	2.32	0.28847	.	0.836040	0.09996	N	0.729060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	8.5998	0.33738	0.17:0.6647:0.1654:0.0	.	.	.	.	X	725	.	ENSP00000189444:R725X	R	+	1	2	NFKB2	104151028	0.001000	0.12720	0.096000	0.21009	0.620000	0.37586	1.028000	0.30128	1.169000	0.42739	0.550000	0.68814	CGA	NFKB2	-	NULL	ENSG00000077150		0.607	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NFKB2	HGNC	protein_coding	OTTHUMT00000050080.2	-	0	36	0	C			104161038	1	tier1	-	no_errors	ENST00000369966	ensembl	human	known	74_37	nonsense	20.00	24	6	SNP	0.003	T	T	104161038	C	T	104161038	4	4	107	1	0	0	0	0	0	1	0	0	10415	644	23	1	2243	1	NFKB2	10	104161038	Nonsense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	14038699	104161038	31373709	65	29474											
TDRD1	56165	genome.wustl.edu	37	chr10	115986888	115986888	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgctattaaaaaattTcatgttgaatcagaatgtaa	19	14	5	3	0	2	2	2	1	0	1	2	2	2	2	0	0	1	3	0	0	9	6			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:115986888T>G	ENST00000251864.2	+	23	3386	c.3233T>G	c.(3232-3234)tTc>tGc	p.F1078C	TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.F964C	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1078					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTAAAAAATTTCATGTTGAAT	0.299																																																	0													37	37	37					10																	115986888		2203	4299	6502	SO:0001583	missense	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"Tudor domain containing"	11712	protein-coding gene	gene with protein product	"cancer/testis antigen 41.1"	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000251864.2:c.3233T>G	10.37:g.115986888T>G	ENSP00000251864:p.Phe1078Cys		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.F1078C	ENST00000251864.2	37	c.3233	CCDS7588.1	10	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024762	0.54683	.	.	ENSG00000095627	ENST00000251864;ENST00000369281	T;T	0.19105	3.08;2.17	6.07	4.94	0.65067	.	0.681568	0.14150	N	0.338066	T	0.31575	0.0801	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.67145	0.993;0.993;0.996;0.996	P;P;P;P	0.56216	0.628;0.628;0.794;0.794	T	0.01488	-1.1342	10	0.54805	T	0.06	-1.2753	9.4178	0.38532	0.0:0.0807:0.0:0.9193	.	1078;964;1078;964	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	C	1078;964	ENSP00000251864:F1078C;ENSP00000358287:F964C	ENSP00000251864:F1078C	F	+	2	0	TDRD1	115976878	0.121000	0.22262	0.964000	0.40570	0.767000	0.43475	3.112000	0.50368	1.134000	0.42165	0.528000	0.53228	TTC	TDRD1	-	NULL	ENSG00000095627		0.299	TDRD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD1	HGNC	protein_coding		-	0	45	0	T			115986888	1	tier1	-	no_errors	ENST00000251864	ensembl	human	known	74_37	missense	35.09	37	20	SNP	0.973	G	G	115986888	T	G	115986888	3	3	107	1	0	0	0	0	1	0	0	0	15777	1783	62	4	3319	4	TDRD1	10	115986888	Missense_Mutation	SNP	T	TCGA-LN-A49V-01A-11D-A247-09	11825850	115986888	19547859	66	29475											
ATRNL1	26033	genome.wustl.edu	37	chr10	117221465	117221465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagacagccttttgattGattatcaatttaccttcagc	11	15	5	10	0	2	3	2	2	0	1	2	3	2	3	2	0	4	0	2	0	4	8			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:117221465G>T	ENST00000355044.3	+	22	3463	c.3337G>T	c.(3337-3339)Gat>Tat	p.D1113Y	ATRNL1_ENST00000423111.2_Missense_Mutation_p.D164Y|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1113					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCTTTTGATTGATTATCAATT	0.333																																																	0													160	154	156					10																	117221465		2203	4299	6502	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3337G>T	10.37:g.117221465G>T	ENSP00000347152:p.Asp1113Tyr		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin	p.D1113Y	ENST00000355044.3	37	c.3337	CCDS7592.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.299224|4.299224	0.81025|0.81025	.|.	.|.	ENSG00000107518|ENSG00000107518	ENST00000355044;ENST00000423111|ENST00000526373	T;T|.	0.51325|.	0.71;0.71|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.091997|.	0.64402|.	D|.	0.000001|.	T|.	0.81917|.	0.4924|.	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.997|.	T|.	0.83218|.	-0.0070|.	10|.	0.87932|.	D|.	0|.	-17.1206|-17.1206	18.7909|18.7909	0.91974|0.91974	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	164;1113|.	B4DH41;Q5VV63|.	.;ATRN1_HUMAN|.	Y|L	1113;164|196	ENSP00000347152:D1113Y;ENSP00000409624:D164Y|.	ENSP00000347152:D1113Y|.	D|X	+|+	1|2	0|2	ATRNL1|ATRNL1	117211455|117211455	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.720000|9.720000	0.98763|0.98763	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	GAT|TGA	ATRNL1	-	NULL	ENSG00000107518		0.333	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	HGNC	protein_coding	OTTHUMT00000050507.3	-	0	32	0	G	XM_049349		117221465	1	tier1	-	no_errors	ENST00000355044	ensembl	human	known	74_37	missense	38.36	45	28	SNP	1.000	T	T	117221465	G	T	117221465	3	4	107	1	0	0	0	0	1	0	0	0	1208	1290	45	3	3423	3	ATRNL1	10	117221465	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	1234577	117221465	18313282	67	29476											
C10orf82	143379	genome.wustl.edu	37	chr10	118425180	118425180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcaggaccgtctcctcGgagttgacaggtttcagttt	6	12	12	11	2	2	1	1	1	1	0	4	3	2	3	3	3	1	4	3	3	0	3	rs374577819		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:118425180G>A	ENST00000369210.3	-	3	267	c.213C>T	c.(211-213)tcC>tcT	p.S71S	C10orf82_ENST00000588184.1_Silent_p.S71S	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	71										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CCGTCTCCTCGGAGTTGACAG	0.572																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	119	109	112		213	-5.4	0	10		112	0,8600		0,0,4300	no	coding-synonymous	C10orf82	NM_144661.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		71/155	118425180	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.213C>T	10.37:g.118425180G>A			B3KUM9|D3DRC3	Silent	SNP	NULL	p.S71	ENST00000369210.3	37	c.213	CCDS7596.1	10																																																																																			C10orf82	-	NULL	ENSG00000165863		0.572	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C10orf82	HGNC	protein_coding	OTTHUMT00000050527.1	-	0	40	0	G	NM_144661		118425180	-1	tier1	-	no_errors	ENST00000588184	ensembl	human	known	74_37	silent	15.22	39	7	SNP	0.012	A	A	118425180	G	A	118425180	2	1	107	1	0	0	0	0	0	0	0	1	1625	1103	39	1		1	C10orf82	10	118425180	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	1203715	118425180	17109567	68	29477											
JAKMIP3	282973	genome.wustl.edu	37	chr10	133946999	133946999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttcctcatgcagctggtGcaggagacgcttcagaccac	10	8	10	13	1	2	2	2	0	0	2	3	3	3	2	2	2	4	4	2	2	1	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr10:133946999G>A	ENST00000298622.4	+	3	955	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	273						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGCAGCTGGTGCAGGAGACGC	0.652																																																	0													19	22	21					10																	133946999		1994	4154	6148	SO:0001583	missense	0			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"neuroendocrine long coiled-coil 2"	611198	"chromosome 10 open reading frame 39", "chromosome 10 open reading frame 14"	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.817G>A	10.37:g.133946999G>A	ENSP00000298622:p.Ala273Thr		A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.A273T	ENST00000298622.4	37	c.817	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977858	0.92982	.	.	ENSG00000188385	ENST00000298622	T	0.11495	2.77	4.63	4.63	0.57726	.	0.144057	0.45126	D	0.000398	T	0.25865	0.0630	L	0.61218	1.895	0.51767	D	0.999939	D	0.63880	0.993	P	0.58520	0.84	T	0.01266	-1.1401	10	0.28530	T	0.3	-14.5558	17.6464	0.88149	0.0:0.0:1.0:0.0	.	273	Q5VZ66	JKIP3_HUMAN	T	273	ENSP00000298622:A273T	ENSP00000298622:A273T	A	+	1	0	JAKMIP3	133796989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.021000	0.70832	2.397000	0.81536	0.655000	0.94253	GCA	JAKMIP3	-	NULL	ENSG00000188385		0.652	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	-	0	25	0	G	NM_194303		133946999	1	tier1	-	no_errors	ENST00000298622	ensembl	human	known	74_37	missense	33.33	16	8	SNP	1.000	A	A	133946999	G	A	133946999	3	1	107	1	0	0	0	0	1	0	0	0	7969	1319	46	3	827	3	JAKMIP3	10	133946999	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	15521819	133946999	1587748	69	29478											
OR51F2	119694	genome.wustl.edu	37	chr11	4842865	4842865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctatgctttcagccacaGacctgagcttgtccctgtgt	6	14	8	13	0	2	2	1	1	1	1	4	2	3	2	3	0	3	2	3	0	1	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr11:4842865G>T	ENST00000322110.5	+	1	315	c.250G>T	c.(250-252)Gac>Tac	p.D84Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCCACAGACCTGAGCTT	0.473																																																	0													188	179	182					11																	4842865		2201	4298	6499	SO:0001583	missense	0			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"GPCR / Class A : Olfactory receptors"	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.250G>T	11.37:g.4842865G>T	ENSP00000323952:p.Asp84Tyr		Q6IFI1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D84Y	ENST00000322110.5	37	c.250	CCDS31361.1	11	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665411	0.67700	.	.	ENSG00000176925	ENST00000322110	T	0.68025	-0.3	4.43	4.43	0.53597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000666	D	0.87233	0.6126	H	0.99668	4.69	0.42417	D	0.992624	D	0.60575	0.988	P	0.53518	0.728	D	0.93361	0.6727	10	0.87932	D	0	.	16.1233	0.81375	0.0:0.0:1.0:0.0	.	84	Q8NH61	O51F2_HUMAN	Y	84	ENSP00000323952:D84Y	ENSP00000323952:D84Y	D	+	1	0	OR51F2	4799441	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.145000	0.64839	2.461000	0.83175	0.561000	0.74099	GAC	OR51F2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176925		0.473	OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51F2	HGNC	protein_coding	OTTHUMT00000142181.1	-	0	50	0	G	NM_001004753		4842865	1	tier1	-	no_errors	ENST00000322110	ensembl	human	known	74_37	missense	34.52	55	29	SNP	1.000	T	T	4842865	G	T	4842865	3	4	107	1	0	0	0	0	1	0	0	0	11136	942	33	3	252	3	OR51F2	11	4842865	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		4842865	130163651	70	29479											
OR51G2	81282	genome.wustl.edu	37	chr11	4936276	4936276	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtagagacgatgacAaacatgccgtagatgctgtt	12	9	10	10	2	0	3	0	1	0	2	0	5	0	3	2	0	3	4	2	0	3	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr11:4936276A>G	ENST00000322013.3	-	1	646	c.618T>C	c.(616-618)ttT>ttC	p.F206F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACGATGACAAACATGCCGT	0.507																																																	0													132	108	116					11																	4936276		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"GPCR / Class A : Olfactory receptors"	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.618T>C	11.37:g.4936276A>G			Q6IFH7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F206	ENST00000322013.3	37	c.618	CCDS31365.1	11																																																																																			OR51G2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176893		0.507	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	-	0	39	0	A	NM_001005238		4936276	-1	tier1	-	no_errors	ENST00000322013	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.996	G	G	4936276	A	G	4936276	2	3	107	1	0	0	0	0	0	0	0	1	11138	127	5	4		4	OR51G2	11	4936276	Silent	SNP	A	TCGA-LN-A49V-01A-11D-A247-09	93411	4936276	130070240	71	29480											
GALNTL4	374378	genome.wustl.edu	37	chr11	11314686	11314686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttgtcatcatcatccaCggtggggctcagaatgccca	8	10	11	12	2	4	1	4	0	0	1	6	1	5	1	2	4	1	2	2	4	1	1	rs529247669		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr11:11314686C>T	ENST00000227756.4	-	10	1978	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	523	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCATCATCCACGGTGGGGCTC	0.577													C|||	1	0.000199681	0	0	5008	,	,		19879	0		0	False		,,,				2504	0.001																0													92	74	80					11																	11314686		2201	4294	6495	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1567G>A	11.37:g.11314686C>T	ENSP00000227756:p.Val523Met		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V523M	ENST00000227756.4	37	c.1567	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566670	0.28003	.	.	ENSG00000110328	ENST00000227756	T	0.56776	0.44	5.7	-0.524	0.11920	Ricin B-related lectin (1);Ricin B lectin (3);	0.480244	0.20229	N	0.096535	T	0.44456	0.1294	L	0.40543	1.245	0.09310	N	1	P	0.46952	0.887	P	0.46758	0.526	T	0.40021	-0.9585	10	0.34782	T	0.22	.	9.814	0.40840	0.0:0.3975:0.0:0.6025	.	523	Q6P9A2	GLTL4_HUMAN	M	523	ENSP00000227756:V523M	ENSP00000227756:V523M	V	-	1	0	GALNTL4	11271262	0.050000	0.20438	0.000000	0.03702	0.506000	0.33950	0.362000	0.20284	-0.126000	0.11682	-0.908000	0.02827	GTG	GALNT18	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000110328		0.577	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1	-	0	39	0	C	NM_198516		11314686	-1	tier1	-	no_errors	ENST00000227756	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.002	T	T	11314686	C	T	11314686	3	4	107	1	0	0	0	0	1	0	0	0	6248	536	19	1	264	1	GALNTL4	11	11314686	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	6378410	11314686	123691830	72	29481											
OR4A16	81327	genome.wustl.edu	37	chr11	55110876	55110876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcctacttgtcacttaTggatgccatatattccactg	8	15	6	12	0	1	0	1	0	0	0	2	1	2	1	4	1	3	0	4	1	4	7			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr11:55110876T>C	ENST00000314721.2	+	1	250	c.200T>C	c.(199-201)aTg>aCg	p.M67T		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCACTTATGGATGCCATA	0.453																																																	0													190	175	180					11																	55110876		2201	4296	6497	SO:0001583	missense	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.200T>C	11.37:g.55110876T>C	ENSP00000325128:p.Met67Thr		Q6IFL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M67T	ENST00000314721.2	37	c.200	CCDS31499.1	11	.	.	.	.	.	.	.	.	.	.	t	2.261	-0.369258	0.05069	.	.	ENSG00000181961	ENST00000314721	T	0.03065	4.06	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03136	0.0092	N	0.20807	0.61	0.21445	N	0.999682	B	0.10296	0.003	B	0.13407	0.009	T	0.39014	-0.9634	9	0.56958	D	0.05	.	8.6087	0.33789	0.0:0.0:0.0:1.0	.	67	Q8NH70	O4A16_HUMAN	T	67	ENSP00000325128:M67T	ENSP00000325128:M67T	M	+	2	0	OR4A16	54867452	0.000000	0.05858	0.977000	0.42913	0.005000	0.04900	0.040000	0.13905	1.186000	0.42985	0.346000	0.21813	ATG	OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181961		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	-	0	40	0	T	NM_001005274		55110876	1	tier1	-	no_errors	ENST00000314721	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.966	C	C	55110876	T	C	55110876	3	2	107	1	0	0	0	0	1	0	0	0	11080	1464	51	4	202	4	OR4A16	11	55110876	Missense_Mutation	SNP	T	TCGA-LN-A49V-01A-11D-A247-09	43796190	55110876	79895640	73	29482											
PLCB3	5331	genome.wustl.edu	37	chr11	64033845	64033845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccataacagcatctcggagGccaagatgagggacaagcat	14	5	12	10	1	1	2	0	1	1	1	2	4	1	4	2	3	3	2	2	3	3	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr11:64033845G>T	ENST00000540288.1	+	28	3428	c.3325G>T	c.(3325-3327)Gcc>Tcc	p.A1109S	PLCB3_ENST00000325234.5_Missense_Mutation_p.A1042S|PLCB3_ENST00000279230.6_Missense_Mutation_p.A1109S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1109				REKKELQKILDRKRHNSISEAKMRDKHKKEA -> SWPSWP RSVRSSGRGSPRRSAGACWARCRRG (in Ref. 2; CAA85776). {ECO:0000305}.	inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CATCTCGGAGGCCAAGATGAG	0.627																																																	0													80	85	83					11																	64033845		2201	4297	6498	SO:0001583	missense	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.3325G>T	11.37:g.64033845G>T	ENSP00000443631:p.Ala1109Ser		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A1109S	ENST00000540288.1	37	c.3325	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570218	0.86542	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.50001	0.76;0.76;0.76	4.87	4.87	0.63330	PLC-beta, C-terminal (1);	2.592480	0.01170	N	0.006840	T	0.72358	0.3450	M	0.65498	2.005	0.52501	D	0.999953	D;D	0.89917	1.0;0.994	D;D	0.85130	0.997;0.96	T	0.54077	-0.8347	10	0.27785	T	0.31	.	16.798	0.85607	0.0:0.0:1.0:0.0	.	1042;1109	G5E960;Q01970	.;PLCB3_HUMAN	S	1109;1109;1042	ENSP00000279230:A1109S;ENSP00000443631:A1109S;ENSP00000324660:A1042S	ENSP00000279230:A1109S	A	+	1	0	PLCB3	63790421	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.329000	0.79170	2.269000	0.75478	0.555000	0.69702	GCC	PLCB3	-	pirsf_PLC-beta,pfam_PLC-beta_C	ENSG00000149782		0.627	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	-	0	17	0	G			64033845	1	tier1	-	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	42.11	11	8	SNP	1.000	T	T	64033845	G	T	64033845	3	4	107	1	0	0	0	0	1	0	0	0	12068	1203	42	3	3435	3	PLCB3	11	64033845	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	8922969	64033845	70972671	74	29483											
UBASH3B	84959	genome.wustl.edu	37	chr11	122667713	122667713	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagatgctcccatcactgtGtttggatgcatgcaagcaag	12	10	10	9	0	1	1	1	0	0	1	2	2	2	2	1	1	4	5	1	1	3	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr11:122667713G>T	ENST00000284273.5	+	9	1704	c.1329G>T	c.(1327-1329)gtG>gtT	p.V443V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	443	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCATCACTGTGTTTGGATGCA	0.488																																																	0													170	147	155					11																	122667713		2202	4299	6501	SO:0001819	synonymous_variant	0			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1329G>T	11.37:g.122667713G>T			Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Silent	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.V443	ENST00000284273.5	37	c.1329	CCDS31694.1	11																																																																																			UBASH3B	-	pfam_His_Pase_superF_clade-1	ENSG00000154127		0.488	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	-	0	64	0	G	NM_032873		122667713	1	tier1	-	no_errors	ENST00000284273	ensembl	human	known	74_37	silent	16.67	20	4	SNP	1.000	T	T	122667713	G	T	122667713	2	4	107	1	0	0	0	0	0	0	0	1	16889	1364	48	3		3	UBASH3B	11	122667713	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	58633868	122667713	12338803	75	29484											
BIN2	51411	genome.wustl.edu	37	chr12	51717865	51717865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaagaggccggccgcgcCgcctgccttgccctctgcca	4	5	14	18	5	1	1	0	0	1	1	1	2	1	1	7	3	3	0	7	3	1	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr12:51717865C>T	ENST00000267012.4	-	1	83	c.22G>A	c.(22-24)Ggc>Agc	p.G8S	BIN2_ENST00000452142.2_Missense_Mutation_p.G8S|BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000544402.1_Intron|BIN2_ENST00000604560.1_Missense_Mutation_p.G8S	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	8					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCGGCCGCGCCGCCTGCCTTG	0.701																																																	0													21	23	22					12																	51717865		2187	4271	6458	SO:0001583	missense	0			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.22G>A	12.37:g.51717865C>T	ENSP00000267012:p.Gly8Ser		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.G8S	ENST00000267012.4	37	c.22	CCDS8811.1	12	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387348	0.42308	.	.	ENSG00000110934	ENST00000452142;ENST00000267012	T;T	0.66099	-0.07;-0.19	3.81	3.81	0.43845	.	0.388394	0.24191	N	0.040719	T	0.60907	0.2305	L	0.34521	1.04	0.22903	N	0.998586	D;D	0.89917	1.0;0.999	D;P	0.62955	0.909;0.744	T	0.50625	-0.8806	10	0.07175	T	0.84	-6.3742	11.4905	0.50379	0.0:1.0:0.0:0.0	.	8;8	Q9UBW5-2;Q9UBW5	.;BIN2_HUMAN	S	8	ENSP00000410217:G8S;ENSP00000267012:G8S	ENSP00000267012:G8S	G	-	1	0	BIN2	50004132	0.109000	0.22037	0.998000	0.56505	0.988000	0.76386	0.548000	0.23314	2.426000	0.82243	0.561000	0.74099	GGC	BIN2	-	NULL	ENSG00000110934		0.701	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	-	0	53	0	C			51717865	-1	tier1	-	no_errors	ENST00000267012	ensembl	human	known	74_37	missense	18.00	41	9	SNP	0.989	T	T	51717865	C	T	51717865	3	4	107	1	0	0	0	0	1	0	0	0	1435	652	23	1	1727	1	BIN2	12	51717865	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		51717865	82134030	76	29485											
MMP17	4326	genome.wustl.edu	37	chr12	132335615	132335615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgtggctgcgggcgtGgacgcggcagaggggccccg	4	5	21	11	5	1	1	0	0	1	1	1	3	1	3	2	7	1	2	2	7	0	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr12:132335615G>A	ENST00000360564.1	+	10	1710	c.1608G>A	c.(1606-1608)gtG>gtA	p.V536V	MMP17_ENST00000535004.1_Silent_p.V76V|MMP17_ENST00000535291.1_Silent_p.V452V	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	536					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CTGCGGGCGTGGACGCGGCAG	0.682																																																	0													25	26	26					12																	132335615		2196	4295	6491	SO:0001819	synonymous_variant	0			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"matrix metalloproteinase 17 (membrane-inserted)"			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1608G>A	12.37:g.132335615G>A			Q14850	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A	p.V536	ENST00000360564.1	37	c.1608	CCDS31927.1	12																																																																																			MMP17	-	NULL	ENSG00000198598		0.682	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	HGNC	protein_coding	OTTHUMT00000397757.1	-	0	77	0	G	NM_016155		132335615	1	tier1	-	no_errors	ENST00000360564	ensembl	human	known	74_37	silent	17.95	64	14	SNP	0.000	A	A	132335615	G	A	132335615	2	1	107	1	0	0	0	0	0	0	0	1	9694	1335	47	3		3	MMP17	12	132335615	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	80617750	132335615	1516280	77	29486											
PCDH8	5100	genome.wustl.edu	37	chr13	53418936	53418936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcccgaggcagtgacGtgctcttacagaaggttgac	10	8	14	9	2	1	3	0	2	1	1	2	6	2	4	1	3	2	3	1	3	2	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr13:53418936G>A	ENST00000377942.3	-	3	3175	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	PCDH8_ENST00000338862.4_Missense_Mutation_p.T894M	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	991					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCAGTGACGTGCTCTTACA	0.607																																					GBM(36;25 841 9273 49207)												0													169	101	124					13																	53418936		2203	4300	6503	SO:0001583	missense	0			AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"Cadherins / Protocadherins : Non-clustered"	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.2972C>T	13.37:g.53418936G>A	ENSP00000367177:p.Thr991Met		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T991M	ENST00000377942.3	37	c.2972	CCDS9438.1	13	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901958	0.72754	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.54279	0.64;0.58	5.95	5.95	0.96441	.	0.000000	0.45361	D	0.000363	T	0.66208	0.2766	L	0.36672	1.1	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.939	T	0.66093	-0.6009	10	0.66056	D	0.02	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	894;991	O95206-2;O95206	.;PCDH8_HUMAN	M	991;894;517;834	ENSP00000367177:T991M;ENSP00000341350:T894M	ENSP00000341350:T894M	T	-	2	0	PCDH8	52316937	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.310000	0.78947	2.817000	0.96982	0.563000	0.77884	ACG	PCDH8	-	NULL	ENSG00000136099		0.607	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH8	HGNC	protein_coding	OTTHUMT00000045108.2	-	0	43	0	G	NM_002590		53418936	-1	tier1	-	no_errors	ENST00000377942	ensembl	human	known	74_37	missense	96.88	1	31	SNP	1.000	A	A	53418936	G	A	53418936	3	1	107	1	0	0	0	0	1	0	0	0	11556	1145	40	1	244	1	PCDH8	13	53418936	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		53418936	61750942	78	29487											
PLEKHG3	26030	genome.wustl.edu	37	chr14	65197520	65197520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcccactcccagctcCgtggccgccctgacggaatg	5	8	9	19	3	1	1	0	1	1	0	4	2	3	2	6	2	1	1	6	2	1	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr14:65197520C>T	ENST00000394691.1	+	6	717	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PLEKHG3_ENST00000247226.7_Silent_p.S134S			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	190	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTCCCAGCTCCGTGGCCGCCC	0.642																																																	0													39	40	40					14																	65197520		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	20364	protein-coding gene	gene with protein product			"KIAA0599"	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.570C>T	14.37:g.65197520C>T			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S190	ENST00000394691.1	37	c.570		14																																																																																			PLEKHG3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000126822		0.642	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	-	0	42	0	C	NM_015549		65197520	1	tier1	-	no_errors	ENST00000394691	ensembl	human	known	74_37	silent	31.88	47	22	SNP	0.002	T	T	65197520	C	T	65197520	2	4	107	1	0	0	0	0	0	0	0	1	12109	639	23	1		1	PLEKHG3	14	65197520	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		65197520	42152020	79	29488											
LTBP2	4053	genome.wustl.edu	37	chr14	74974791	74974791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctgtggtggcacactcGtccacatctagagtagagat	9	10	13	9	1	2	2	0	0	2	2	4	3	3	2	1	3	0	2	1	3	2	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr14:74974791G>A	ENST00000261978.4	-	25	4046	c.3660C>T	c.(3658-3660)gaC>gaT	p.D1220D	LTBP2_ENST00000556690.1_Silent_p.D1220D	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1220	Cys-rich.|EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGCACACTCGTCCACATCTA	0.592																																																	0													56	47	50					14																	74974791		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"Latent transforming growth factor, beta binding proteins"	6715	protein-coding gene	gene with protein product		602091	"chromosome 14 open reading frame 141"	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3660C>T	14.37:g.74974791G>A			Q99907|Q9NS51	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.D1220	ENST00000261978.4	37	c.3660	CCDS9831.1	14																																																																																			LTBP2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000119681		0.592	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	-	0	31	0	G	NM_000428		74974791	-1	tier1	-	no_errors	ENST00000261978	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.995	A	A	74974791	G	A	74974791	2	1	107	1	0	0	0	0	0	0	0	1	9109	1136	40	1		1	LTBP2	14	74974791	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	9777271	74974791	32374749	80	29489											
TDRD9	122402	genome.wustl.edu	37	chr14	104488603	104488603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcacttgaactcagcgttCattctgcagaggaaattgaa	12	13	8	8	1	4	3	3	2	1	1	4	4	4	4	0	1	3	2	0	1	3	5			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr14:104488603C>T	ENST00000409874.4	+	24	2590	c.2542C>T	c.(2542-2544)Cat>Tat	p.H848Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.H848Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	848					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ACTCAGCGTTCATTCTGCAGA	0.453																																																	0													81	68	72					14																	104488603		2203	4300	6503	SO:0001583	missense	0			AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"Tudor domain containing"	20122	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 75"	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.2542C>T	14.37:g.104488603C>T	ENSP00000387303:p.His848Tyr		A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H848Y	ENST00000409874.4	37	c.2542	CCDS9987.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.011|0.011	-1.727261|-1.727261	0.00694|0.00694	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	T;T|.	0.03330|.	3.97;3.98|.	5.6|5.6	4.71|4.71	0.59529|0.59529	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.62648|0.62648	0.2445|0.2445	L|L	0.50333|0.50333	1.59|1.59	0.46542|0.46542	D|D	0.999097|0.999097	B;B|.	0.25105|.	0.118;0.091|.	B;B|.	0.18263|.	0.021;0.021|.	T|T	0.60409|0.60409	-0.7269|-0.7269	10|5	0.33141|.	T|.	0.24|.	.|.	14.4623|14.4623	0.67459|0.67459	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.	848;848|.	Q8NDG6-2;Q8NDG6|.	.;TDRD9_HUMAN|.	Y|L	848|574	ENSP00000387303:H848Y;ENSP00000343545:H848Y|.	ENSP00000343545:H848Y|.	H|S	+|+	1|2	0|0	TDRD9|TDRD9	103558356|103558356	0.972000|0.972000	0.33761|0.33761	0.020000|0.020000	0.16555|0.16555	0.082000|0.082000	0.17680|0.17680	2.824000|2.824000	0.48088|0.48088	1.375000|1.375000	0.46248|0.46248	0.650000|0.650000	0.86243|0.86243	CAT|TCA	TDRD9	-	NULL	ENSG00000156414		0.453	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDRD9	HGNC	protein_coding	OTTHUMT00000328325.3	-	0	54	0	C	NM_153046		104488603	1	tier1	-	no_errors	ENST00000409874	ensembl	human	known	74_37	missense	8.54	75	7	SNP	0.624	T	T	104488603	C	T	104488603	3	4	107	1	0	0	0	0	1	0	0	0	15783	826	29	3	2636	3	TDRD9	14	104488603	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	29513812	104488603	2860937	81	29490											
KIAA0284	283638	genome.wustl.edu	37	chr14	105359964	105359964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaacgacagctgtgaggaCgccctggccaacaagacgcg	12	4	13	12	4	0	3	0	2	0	1	0	5	0	4	2	2	3	1	2	2	3	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr14:105359964C>T	ENST00000414716.3	+	15	4371	c.4143C>T	c.(4141-4143)gaC>gaT	p.D1381D	CEP170B_ENST00000453495.1_Silent_p.D1417D|CEP170B_ENST00000556508.1_Silent_p.D1346D|CEP170B_ENST00000418279.1_Silent_p.D1311D	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1416						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCTGTGAGGACGCCCTGGCCA	0.672																																																	0													15	19	17					14																	105359964		2133	4221	6354	SO:0001819	synonymous_variant	0			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"Cep170-related"		"KIAA0284"	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4143C>T	14.37:g.105359964C>T			Q2KHR7|Q86TI7	Silent	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D1417	ENST00000414716.3	37	c.4251	CCDS45175.1	14																																																																																			CEP170B	-	NULL	ENSG00000099814		0.672	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP170B	HGNC	protein_coding	OTTHUMT00000410289.2	-	0	55	0	C	NM_001112726		105359964	1	tier1	-	no_errors	ENST00000453495	ensembl	human	known	74_37	silent	13.21	46	7	SNP	0.000	T	T	105359964	C	T	105359964	2	4	107	1	0	0	0	0	0	0	0	1	8193	535	19	1		1	KIAA0284	14	105359964	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	871361	105359964	1989576	82	29491											
VPS18	57617	genome.wustl.edu	37	chr15	41192273	41192273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtattgtcgagagcggccCgactgcctggacacggtcct	7	8	14	12	4	0	1	0	0	0	1	2	5	1	2	3	3	2	1	3	3	1	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr15:41192273C>T	ENST00000220509.5	+	4	1596	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	419					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GAGAGCGGCCCGACTGCCTGG	0.622																																																	0													63	69	67					15																	41192273		2203	4300	6503	SO:0001819	synonymous_variant	0			AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"vacuolar protein sorting protein 18"			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1257C>T	15.37:g.41192273C>T			Q8TCG0|Q96DI3|Q9H268	Silent	SNP	pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold	p.P419	ENST00000220509.5	37	c.1257	CCDS10069.1	15																																																																																			VPS18	-	pfam_Pep3_Vps18,superfamily_ARM-type_fold	ENSG00000104142		0.622	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS18	HGNC	protein_coding	OTTHUMT00000252443.2	-	0	68	0	C			41192273	1	tier1	-	no_errors	ENST00000220509	ensembl	human	known	74_37	silent	23.40	36	11	SNP	0.102	T	T	41192273	C	T	41192273	2	4	107	1	0	0	0	0	0	0	0	1	17243	639	23	1		1	VPS18	15	41192273	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		41192273	61339119	83	29492											
ODF3L1	161753	genome.wustl.edu	37	chr15	76019672	76019672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacctaccacgtacgccCgacctgagccatccatctat	9	8	7	17	3	1	1	0	1	1	0	2	3	2	2	6	1	3	1	6	1	3	3	rs372700633		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr15:76019672C>T	ENST00000332145.2	+	4	839	c.616C>T	c.(616-618)Cga>Tga	p.R206*	DNM1P35_ENST00000501931.1_RNA	NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	206										kidney(1)|lung(1)	2						CACGTACGCCCGACCTGAGCC	0.627																																																	0													96	78	84					15																	76019672		2197	4294	6491	SO:0001587	stop_gained	0			BC039862	CCDS10285.1	15q23	2008-02-05			ENSG00000182950	ENSG00000182950			28735	protein-coding gene	gene with protein product							Standard	NM_175881		Approved	MGC48986	uc002bax.1	Q8IXM7	OTTHUMG00000142837	ENST00000332145.2:c.616C>T	15.37:g.76019672C>T	ENSP00000329584:p.Arg206*			Nonsense_Mutation	SNP	pfam_SHIPPO-rpt	p.R206*	ENST00000332145.2	37	c.616	CCDS10285.1	15	.	.	.	.	.	.	.	.	.	.	.	15.07	2.724715	0.48833	.	.	ENSG00000182950	ENST00000332145	.	.	.	4.68	1.3	0.21679	.	0.000000	0.47093	D	0.000250	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-24.3818	10.454	0.44539	0.4937:0.5063:0.0:0.0	.	.	.	.	X	206	.	ENSP00000329584:R206X	R	+	1	2	ODF3L1	73806727	0.002000	0.14202	0.073000	0.20177	0.007000	0.05969	0.037000	0.13840	0.440000	0.26502	0.561000	0.74099	CGA	ODF3L1	-	NULL	ENSG00000182950		0.627	ODF3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF3L1	HGNC	protein_coding	OTTHUMT00000286473.1	-	0	35	0	C	NM_175881		76019672	1	tier1	-	no_errors	ENST00000332145	ensembl	human	known	74_37	nonsense	62.50	15	25	SNP	0.486	T	T	76019672	C	T	76019672	4	4	107	1	0	0	0	0	0	1	0	0	10870	644	23	1	630	1	ODF3L1	15	76019672	Nonsense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	34827399	76019672	26511720	84	29493											
ISL2	64843	genome.wustl.edu	37	chr15	76632669	76632669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacgtgcacaagcagacGgagaagacgacccgcgtgcg	11	2	14	14	7	0	3	0	0	0	3	0	5	0	3	2	1	3	3	2	1	2	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr15:76632669G>A	ENST00000290759.4	+	4	724	c.564G>A	c.(562-564)acG>acA	p.T188T	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	188					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACAAGCAGACGGAGAAGACGA	0.697																																					GBM(97;953 1391 16164 31496 36951)												0													30	32	31					15																	76632669		2196	4291	6487	SO:0001819	synonymous_variant	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"Homeoboxes / LIM class"	18524	protein-coding gene	gene with protein product		609481	"ISL2 transcription factor, LIM/homeodomain, (islet-2)"				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.564G>A	15.37:g.76632669G>A			B3KM37	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.G101R	ENST00000290759.4	37	c.301	CCDS10290.1	15																																																																																			ISL2	-	NULL	ENSG00000159556		0.697	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1	-	0	27	0	G			76632669	1	tier1	-	no_errors	ENST00000558656	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	A	A	76632669	G	A	76632669	2	1	107	1	0	0	0	0	0	0	0	1	7884	1103	39	1		1	ISL2	15	76632669	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	612997	76632669	25898723	85	29494											
NTRK3	4916	genome.wustl.edu	37	chr15	88420209	88420209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggtggccttccccaaaGcatggaggattttgtagatc	8	12	13	8	0	0	1	0	0	0	1	2	3	1	3	3	5	1	2	3	5	2	5			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr15:88420209G>A	ENST00000360948.2	-	19	2638	c.2477C>T	c.(2476-2478)gCt>gTt	p.A826V	NTRK3_ENST00000357724.2_Missense_Mutation_p.A818V|NTRK3_ENST00000394480.2_Missense_Mutation_p.A812V|NTRK3_ENST00000557856.1_Missense_Mutation_p.A804V|NTRK3_ENST00000355254.2_Missense_Mutation_p.A812V	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	826	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTCCCCAAAGCATGGAGGAT	0.537			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0													168	133	145					15																	88420209		2201	4299	6500	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2477C>T	15.37:g.88420209G>A	ENSP00000354207:p.Ala826Val		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A826V	ENST00000360948.2	37	c.2477	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423584	0.25639	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	T;T;T;T	0.74737	-0.87;-0.84;-0.85;-0.87	5.71	4.79	0.61399	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66742	0.2820	L	0.29908	0.895	0.80722	D	1	B;P;B	0.42296	0.228;0.775;0.228	B;B;B	0.41412	0.091;0.356;0.091	T	0.69614	-0.5098	10	0.52906	T	0.07	.	15.4274	0.75065	0.0:0.1396:0.8604:0.0	.	804;812;826	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	V	812;826;818;812	ENSP00000377990:A812V;ENSP00000354207:A826V;ENSP00000350356:A818V;ENSP00000347397:A812V	ENSP00000347397:A812V	A	-	2	0	NTRK3	86221213	0.899000	0.30636	0.058000	0.19502	0.003000	0.03518	4.606000	0.61126	1.411000	0.46957	-0.175000	0.13238	GCT	NTRK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000140538		0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0	66	0	G			88420209	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	missense	14.04	49	8	SNP	0.905	A	A	88420209	G	A	88420209	3	1	107	1	0	0	0	0	1	0	0	0	10747	971	34	3	46	3	NTRK3	15	88420209	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	11787540	88420209	14111183	86	29495											
MAPK8IP3	23162	genome.wustl.edu	37	chr16	1814194	1814194	+	Frame_Shift_Del	DEL	A	A	-																															actgccgccctctggtggagAaggaccccaccatgaaggtg																										TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr16:1814194delA	ENST00000250894.4	+	18	2258	c.2101delA	c.(2101-2103)aagfs	p.K701fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.K695fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	701					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCTGGTGGAGAAGGACCCCAC	0.716																																																	0													34	46	42					16																	1814194		2073	4193	6266	SO:0001589	frameshift_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"homolog of Drosophila Sunday driver 2"	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2101delA	16.37:g.1814194delA	ENSP00000250894:p.Lys701fs		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Frame_Shift_Del	DEL	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.K701fs	ENST00000250894.4	37	c.2101	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL	ENSG00000138834		0.716	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2		0	27	0	A	NM_001040439		1814194	1	tier1		no_errors	ENST00000250894	ensembl	human	known	74_37	frame_shift_del	22.22	7	2	DEL	1.000	-	-	1814194	A	-	1814194	7	5	107	1	0	1	0	1	0	0	0	0	9324	247	9	0	2187	0	MAPK8IP3	16	1814194	Frame_Shift_Del	DEL	A	TCGA-LN-A49V-01A-11D-A247-09		1814194	88540559	87	29496											
MGRN1	23295	genome.wustl.edu	37	chr16	4714709	4714709	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttggcaactctctcctcaGctgaactttgacctggaccg	7	12	8	14	1	3	2	1	2	2	0	5	3	4	3	3	2	3	2	3	2	2	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr16:4714709G>A	ENST00000399577.5	+	6	654		c.e6-1		MGRN1_ENST00000415496.1_Splice_Site|MGRN1_ENST00000588994.1_Splice_Site|MGRN1_ENST00000262370.7_Splice_Site|MGRN1_ENST00000586183.1_Splice_Site	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCTCTCCTCAGCTGAACTTTG	0.582																																																	0													133	132	133					16																	4714709		2155	4265	6420	SO:0001630	splice_region_variant	0			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"RING-type (C3HC4) zinc fingers"	20254	protein-coding gene	gene with protein product		607559	"mahogunin, ring finger 1"			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.562-1G>A	16.37:g.4714709G>A			A4URL3|A4URL4|Q86W76	Splice_Site	SNP	-	e6-1	ENST00000399577.5	37	c.562-1	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750604	0.69533	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1172	0.86692	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MGRN1	4654710	1.000000	0.71417	0.938000	0.37757	0.602000	0.36980	9.657000	0.98554	2.615000	0.88500	0.555000	0.69702	.	MGRN1	-	-	ENSG00000102858		0.582	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	-	0	94	0	G		Intron	4714709	1	tier1	-	no_errors	ENST00000262370	ensembl	human	known	74_37	splice_site	21.43	44	12	SNP	1.000	A	A	4714709	G	A	4714709	5	1	107	1	0	0	0	0	0	0	1	0	9597	985	34	3	583	3	MGRN1	16	4714709	Splice_Site	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	2900515	4714709	85640044	88	29497											
ITGAL	3683	genome.wustl.edu	37	chr16	30522255	30522255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagctcctggggggactcGgttgaattgcacgccaatgt	9	9	13	10	2	0	1	0	1	0	0	2	2	1	2	2	4	3	3	2	4	3	2	rs7201914	byFrequency	TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr16:30522255G>A	ENST00000356798.6	+	23	2853	c.2673G>A	c.(2671-2673)tcG>tcA	p.S891S	ITGAL_ENST00000358164.5_Silent_p.S807S|ITGAL_ENST00000433423.2_Silent_p.S125S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	891					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GGGGGGACTCGGTTGAATTGC	0.562																																					NSCLC(110;1462 1641 3311 33990 49495)												0													92	89	90					16																	30522255		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"CD molecules", "Integrins"	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2673G>A	16.37:g.30522255G>A			O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A	p.S891	ENST00000356798.6	37	c.2673	CCDS32433.1	16																																																																																			ITGAL	-	pfam_Integrin_alpha-2	ENSG00000005844		0.562	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	-	0	41	0	G			30522255	1	tier1	-	no_errors	ENST00000356798	ensembl	human	known	74_37	silent	16.67	15	3	SNP	0.000	A	A	30522255	G	A	30522255	2	1	107	1	0	0	0	0	0	0	0	1	7913	1103	39	1		1	ITGAL	16	30522255	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	25807546	30522255	59832498	89	29498											
CNGB1	1258	genome.wustl.edu	37	chr16	57965772	57965772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacttctgggtgctgtttCgtggcaggcactgggggaga	5	11	17	8	1	1	1	0	0	1	1	2	2	1	1	0	5	2	5	0	5	0	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr16:57965772C>T	ENST00000251102.8	-	17	1443	c.1383G>A	c.(1381-1383)acG>acA	p.T461T	CNGB1_ENST00000564448.1_Silent_p.T455T|CNGB1_ENST00000564654.1_5'UTR	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	461					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTGCTGTTTCGTGGCAGGCA	0.547																																					Colon(156;1293 1853 16336 28962 38659)												0													47	52	51					16																	57965772		2005	4174	6179	SO:0001819	synonymous_variant	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2151	protein-coding gene	gene with protein product	"glutamic acid-rich protein"	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1383G>A	16.37:g.57965772C>T			H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T461	ENST00000251102.8	37	c.1383	CCDS42169.1	16																																																																																			CNGB1	-	NULL	ENSG00000070729		0.547	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	-	0	65	0	C	NM_001297		57965772	-1	tier1	-	no_errors	ENST00000251102	ensembl	human	known	74_37	silent	11.76	30	4	SNP	0.000	T	T	57965772	C	T	57965772	2	4	107	1	0	0	0	0	0	0	0	1	3607	871	31	1		1	CNGB1	16	57965772	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	27443517	57965772	32388981	90	29499											
FHOD1	29109	genome.wustl.edu	37	chr16	67264528	67264528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagacacggcggtgcactAtccttagcatggcaacacgg	10	7	12	12	3	0	1	0	0	0	1	1	1	1	1	1	4	4	4	1	4	3	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr16:67264528A>G	ENST00000258201.4	-	18	3081	c.2834T>C	c.(2833-2835)aTa>aCa	p.I945T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	945	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCGGTGCACTATCCTTAGCAT	0.632																																																	0													148	151	150					16																	67264528		2198	4300	6498	SO:0001583	missense	0			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2834T>C	16.37:g.67264528A>G	ENSP00000258201:p.Ile945Thr		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.I945T	ENST00000258201.4	37	c.2834	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205265	0.39003	.	.	ENSG00000135723	ENST00000258201	T	0.16324	2.35	5.37	5.37	0.77165	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.171321	0.51477	D	0.000086	T	0.17662	0.0424	L	0.45352	1.415	0.36671	D	0.878491	B	0.10296	0.003	B	0.25759	0.063	T	0.09997	-1.0649	10	0.27082	T	0.32	.	14.2019	0.65710	1.0:0.0:0.0:0.0	.	945	Q9Y613	FHOD1_HUMAN	T	945	ENSP00000258201:I945T	ENSP00000258201:I945T	I	-	2	0	FHOD1	65822029	0.994000	0.37717	0.828000	0.32881	0.933000	0.57130	7.174000	0.77620	2.045000	0.60652	0.459000	0.35465	ATA	FHOD1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000135723		0.632	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	-	0	62	0	A			67264528	-1	tier1	-	no_errors	ENST00000258201	ensembl	human	known	74_37	missense	76.47	4	13	SNP	0.961	G	G	67264528	A	G	67264528	3	3	107	1	0	0	0	0	1	0	0	0	5904	449	16	4	680	4	FHOD1	16	67264528	Missense_Mutation	SNP	A	TCGA-LN-A49V-01A-11D-A247-09	9298756	67264528	23090225	91	29500											
C17orf85	55421	genome.wustl.edu	37	chr17	3719429	3719429	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatttagtactgctgacTggtggccgtggacgggagtg	6	11	16	8	2	0	2	0	2	0	0	0	4	0	4	2	4	2	2	2	4	2	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:3719429T>G	ENST00000389005.4	-	11	1473	c.1446A>C	c.(1444-1446)ccA>ccC	p.P482P	C17orf85_ENST00000158149.3_Silent_p.P202P	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	482							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TACTGCTGACTGGTGGCCGTG	0.468																																																	0													88	75	79					17																	3719429		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"ELG protein"					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1446A>C	17.37:g.3719429T>G			B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	pfam_DUF2414	p.P482	ENST00000389005.4	37	c.1446	CCDS45578.1	17																																																																																			C17orf85	-	NULL	ENSG00000074356		0.468	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	-	0	61	0	T	NM_018553		3719429	-1	tier1	-	no_errors	ENST00000389005	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.288	G	G	3719429	T	G	3719429	2	3	107	1	0	0	0	0	0	0	0	1	1894	1567	55	4		4	C17orf85	17	3719429	Silent	SNP	T	TCGA-LN-A49V-01A-11D-A247-09		3719429	77475781	92	29501											
SLC16A13	201232	genome.wustl.edu	37	chr17	6942095	6942095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcaggggctctggcccCactggccttctccgtgctgc	4	9	11	17	1	3	0	1	0	2	0	4	0	3	0	4	4	2	2	4	4	0	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:6942095C>T	ENST00000308027.6	+	3	1276	c.968C>T	c.(967-969)cCa>cTa	p.P323L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	323						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GCTCTGGCCCCACTGGCCTTC	0.602																																																	0													65	71	69					17																	6942095		2203	4300	6503	SO:0001583	missense	0			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"Solute carriers"	31037	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 13"		"solute carrier family 16 (monocarboxylic acid transporters), member 13"				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.968C>T	17.37:g.6942095C>T	ENSP00000309751:p.Pro323Leu		A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P323L	ENST00000308027.6	37	c.968	CCDS11085.1	17	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548389	0.86127	.	.	ENSG00000174327	ENST00000308027	T	0.61040	0.14	5.85	5.85	0.93711	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.166803	0.53938	D	0.000045	T	0.78071	0.4226	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.79864	-0.1623	10	0.72032	D	0.01	.	17.6674	0.88207	0.0:1.0:0.0:0.0	.	323	Q7RTY0	MOT13_HUMAN	L	323	ENSP00000309751:P323L	ENSP00000309751:P323L	P	+	2	0	SLC16A13	6882819	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	7.260000	0.78391	2.767000	0.95098	0.557000	0.71058	CCA	SLC16A13	-	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000174327		0.602	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	HGNC	protein_coding	OTTHUMT00000219923.2	-	0	35	0	C			6942095	1	tier1	-	no_errors	ENST00000308027	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	T	T	6942095	C	T	6942095	3	4	107	1	0	0	0	0	1	0	0	0	14451	594	21	3	978	3	SLC16A13	17	6942095	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	3222666	6942095	74253115	93	29502											
TP53	7157	genome.wustl.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:7577094G>C	ENST00000269305.4	-	8	1033	c.844C>G	c.(844-846)Cgg>Ggg	p.R282G	TP53_ENST00000420246.2_Missense_Mutation_p.R282G|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282G|TP53_ENST00000445888.2_Missense_Mutation_p.R282G|TP53_ENST00000455263.2_Missense_Mutation_p.R282G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574						83	71	75					17																	7577094		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>G	17.37:g.7577094G>C	ENSP00000269305:p.Arg282Gly		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R282G	ENST00000269305.4	37	c.844	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743784	0.69418	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89968	3.075	0.58432	D	0.999997	P;D;P;P	0.89917	0.826;1.0;0.856;0.483	P;D;P;P	0.79108	0.751;0.992;0.839;0.591	D	0.98579	1.0649	10	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	.	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	282;282;282;282;282;271;150	ENSP00000352610:R282G;ENSP00000269305:R282G;ENSP00000398846:R282G;ENSP00000391127:R282G;ENSP00000391478:R282G;ENSP00000425104:R150G	ENSP00000269305:R282G	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	52	0	G	NM_000546		7577094	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	100.00	0	36	SNP	0.997	C	C	7577094	G	C	7577094	3	2	107	1	0	0	0	0	1	0	0	0	16429	1115	39	5	442	5	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	634999	7577094	73618116	94	29503											
GAS7	8522	genome.wustl.edu	37	chr17	9862555	9862555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctctgctttttgcttggCgatgaggatcccaggttctg	4	16	12	9	1	2	1	0	1	2	0	3	3	3	2	1	3	3	4	1	3	0	5	rs142589082		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:9862555C>T	ENST00000432992.2	-	5	649	c.489G>A	c.(487-489)tcG>tcA	p.S163S	GAS7_ENST00000542249.1_Silent_p.S99S|GAS7_ENST00000323816.4_Silent_p.S103S|GAS7_ENST00000585266.1_Silent_p.S103S|GAS7_ENST00000580865.1_Silent_p.S23S|GAS7_ENST00000583882.1_Silent_p.S23S|GAS7_ENST00000540214.1_Silent_p.S99S|GAS7_ENST00000396115.2_Silent_p.S99S|GAS7_ENST00000579158.1_Silent_p.S99S|GAS7_ENST00000437099.2_Silent_p.S99S|GAS7_ENST00000578655.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	163					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TTTTGCTTGGCGATGAGGATC	0.557			T	MLL	AML*						OREG0024172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		20475	0		0.001	False		,,,				2504	0							Dom	yes		17	17p	8522	growth arrest-specific 7		L	0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	154	118	130		297,69,309,489	-3	1	17	dbSNP_134	130	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GAS7	NM_001130831.1,NM_003644.2,NM_201432.1,NM_201433.1	,,,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,,	99/413,23/337,103/417,163/477	9862555	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	0			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.489G>A	17.37:g.9862555C>T		660	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	pfam_FCH_dom,pfam_WW_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_FCH_dom,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_WW_dom	p.S163	ENST00000432992.2	37	c.489	CCDS11152.1	17																																																																																			GAS7	-	NULL	ENSG00000007237		0.557	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	HGNC	protein_coding	OTTHUMT00000439883.1	-	0	54	0	C	NM_003644, NM_201432, NM_201433		9862555	-1	tier1	rs142589082	no_errors	ENST00000432992	ensembl	human	known	74_37	silent	19.64	45	11	SNP	0.961	T	T	9862555	C	T	9862555	2	4	107	1	0	0	0	0	0	0	0	1	6275	755	27	1		1	GAS7	17	9862555	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	2285461	9862555	71332655	95	29504											
ELAC2	60528	genome.wustl.edu	37	chr17	12899085	12899085	+	Frame_Shift_Del	DEL	G	G	-																															agccaggctttgagctggttGggggcaaccaccagcaaagg																										TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:12899085delG	ENST00000338034.4	-	19	1982	c.1743delC	c.(1741-1743)cccfs	p.P581fs	ELAC2_ENST00000395962.2_Frame_Shift_Del_p.P562fs|ELAC2_ENST00000426905.3_Frame_Shift_Del_p.P541fs	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	581					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TGAGCTGGTTGGGGGCAACCA	0.567																																																	0													61	51	55					17																	12899085		2203	4300	6503	SO:0001589	frameshift_variant	0			AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"tRNase Z (long form)"	605367	"elaC (E. coli) homolog 2", "elaC homolog 2 (E. coli)"			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1743delC	17.37:g.12899085delG	ENSP00000337445:p.Pro581fs		B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Frame_Shift_Del	DEL	pfam_Beta-lactamas-like	p.N582fs	ENST00000338034.4	37	c.1743	CCDS11164.1	17																																																																																			ELAC2	-	pfam_Beta-lactamas-like	ENSG00000006744		0.567	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5		0	25	0	G			12899085	-1	tier1		no_errors	ENST00000338034	ensembl	human	known	74_37	frame_shift_del	13.79	25	4	DEL	0.002	-	-	12899085	G	-	12899085	7	5	107	1	0	1	0	1	0	0	0	0	5063	1335	47	0	761	0	ELAC2	17	12899085	Frame_Shift_Del	DEL	G	TCGA-LN-A49V-01A-11D-A247-09	3036530	12899085	68296125	96	29505											
ATPAF2	91647	genome.wustl.edu	37	chr17	17925098	17925098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagatgccaggtggctgaCgagcacctcccgagttttgg	8	9	14	10	2	0	2	0	1	0	1	1	4	1	2	3	3	2	4	3	3	1	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:17925098C>T	ENST00000474627.3	-	6	731	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	ATPAF2_ENST00000585101.1_Intron|ATPAF2_ENST00000469327.1_5'UTR	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	193					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					AGGTGGCTGACGAGCACCTCC	0.547																																																	0													232	203	213					17																	17925098		2203	4300	6503	SO:0001583	missense	0			AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"Mitochondrial respiratory chain complex assembly factors"	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.577G>A	17.37:g.17925098C>T	ENSP00000417190:p.Val193Ile		A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	pfam_ATP12_ATPase-F1F0-assembly	p.V193I	ENST00000474627.3	37	c.577	CCDS32585.1	17	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235113	0.22626	.	.	ENSG00000171953	ENST00000474627;ENST00000444058	T;T	0.76316	-1.01;-1.01	5.41	-9.79	0.00494	ATPase assembly, ATP12, domain (1);	1.281030	0.04893	N	0.449871	T	0.40347	0.1113	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45527	-0.9255	10	0.37606	T	0.19	-12.9771	7.7394	0.28833	0.0806:0.1749:0.0808:0.6636	.	193	Q8N5M1	ATPF2_HUMAN	I	193	ENSP00000417190:V193I;ENSP00000397198:V193I	ENSP00000434980:V193I	V	-	1	0	ATPAF2	17865823	0.000000	0.05858	0.000000	0.03702	0.580000	0.36256	-0.628000	0.05515	-1.726000	0.01370	-0.175000	0.13238	GTC	ATPAF2	-	NULL	ENSG00000171953		0.547	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPAF2	HGNC	protein_coding	OTTHUMT00000131934.3	-	0	24	0	C	NM_145691		17925098	-1	tier1	-	no_errors	ENST00000474627	ensembl	human	known	74_37	missense	50.00	13	13	SNP	0.000	T	T	17925098	C	T	17925098	3	4	107	1	0	0	0	0	1	0	0	0	1202	536	19	1	304	1	ATPAF2	17	17925098	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	5026013	17925098	63270112	97	29506											
ACCN1	40	genome.wustl.edu	37	chr17	31618690	31618690	+	Intron	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcatagtagaggtccccCttggagaggcgcgggaagcg	8	5	17	11	4	0	2	0	0	0	2	1	4	1	3	3	5	1	2	3	5	3	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:31618690C>G	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Missense_Mutation_p.K148N|ASIC2_ENST00000448983.1_5'Flank	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	AGAGGTCCCCCTTGGAGAGGC	0.711																																																	0													23	24	23					17																	31618690		2192	4288	6480	SO:0001627	intron_variant	0			AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"Ion channels / Acid-sensing (proton-gated) ion channels"	99	protein-coding gene	gene with protein product	"degenerin"	601784	"amiloride-sensitive cation channel 1, neuronal"	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179605G>C	17.37:g.31618690C>G			E9PBX2|Q13553|Q6DJU1|Q8N3E2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.K148N	ENST00000359872.6	37	c.444	CCDS42296.1	17	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383482	0.42207	.	.	ENSG00000108684	ENST00000225823	T	0.63913	-0.07	5.12	4.15	0.48705	.	0.211078	0.39146	N	0.001456	T	0.67571	0.2907	M	0.75615	2.305	0.80722	D	1	P	0.35527	0.507	P	0.49332	0.607	T	0.62581	-0.6824	10	0.15066	T	0.55	-15.8931	7.867	0.29543	0.0:0.811:0.0:0.189	.	148	E9PBX2	.	N	148	ENSP00000225823:K148N	ENSP00000225823:K148N	K	-	3	2	ACCN1	28642803	0.004000	0.15560	1.000000	0.80357	0.987000	0.75469	-0.296000	0.08287	1.924000	0.55735	0.260000	0.18958	AAG	ASIC2	-	pfam_Na+channel_ASC	ENSG00000108684		0.711	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC2	HGNC	protein_coding	OTTHUMT00000447552.1	-	0	73	0	C	NM_183377, NM_001094		31618690	-1	tier1	-	no_errors	ENST00000225823	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	G	G	31618690	C	G	31618690	1	3	107	0	1	0	0	0	0	0	0	0	128	680	24	5		5	ACCN1	17	31618690	Intron	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	13693592	31618690	49576520	98	29507											
CACNB1	782	genome.wustl.edu	37	chr17	37343091	37343091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgttcctgcagcaggCgaaggctgtccagtttgacg	6	11	13	11	2	1	1	0	1	1	0	3	2	3	1	2	2	2	6	2	2	1	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:37343091C>T	ENST00000394303.3	-	5	713	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.R169H|CACNB1_ENST00000344140.5_Missense_Mutation_p.R169H	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	169					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGCAGCAGGCGAAGGCTGTC	0.602																																					Esophageal Squamous(5;100 366 38393 41452 45827)												0													63	60	61					17																	37343091		2203	4300	6503	SO:0001583	missense	0				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"Calcium channel subunits"	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.506G>A	17.37:g.37343091C>T	ENSP00000377840:p.Arg169His		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.R169H	ENST00000394303.3	37	c.506	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.238418	0.95240	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83506	-1.73;-1.73;-1.73	5.06	5.06	0.68205	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.91119	0.7204	M	0.78916	2.43	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.989;0.966;0.998;0.984;0.991	D	0.92312	0.5858	10	0.87932	D	0	-12.5295	17.1868	0.86868	0.0:1.0:0.0:0.0	.	122;169;169;169;169	F5H6X1;Q6TME4;Q02641-2;Q02641-3;Q02641	.;.;.;.;CACB1_HUMAN	H	119;169;169;169;122	ENSP00000377840:R169H;ENSP00000345461:R169H;ENSP00000377847:R169H	ENSP00000345461:R169H	R	-	2	0	CACNB1	34596617	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.711000	0.84669	2.362000	0.80069	0.313000	0.20887	CGC	CACNB1	-	superfamily_SH3_domain	ENSG00000067191		0.602	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	-	0	54	0	C			37343091	-1	tier1	-	no_errors	ENST00000394303	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	T	T	37343091	C	T	37343091	3	4	107	1	0	0	0	0	1	0	0	0	2559	768	27	1	1594	1	CACNB1	17	37343091	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	5724401	37343091	43852119	99	29508											
KPNB1	3837	genome.wustl.edu	37	chr17	45750492	45750492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccagaaaacgactttGgtcatcatggaacgactgca	12	9	10	10	2	2	1	2	0	0	1	3	4	3	2	1	2	3	2	1	2	3	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:45750492G>T	ENST00000290158.4	+	13	2063	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	KPNB1_ENST00000537679.1_Missense_Mutation_p.L336F|KPNB1_ENST00000540627.1_Missense_Mutation_p.L407F|KPNB1_ENST00000535458.2_Missense_Mutation_p.L407F	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	552					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L552F(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAACGACTTTGGTCATCATGG	0.463																																																	1	Substitution - Missense(1)	endometrium(1)											125	119	121					17																	45750492		2203	4300	6503	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"Importins", "Armadillo repeat containing"	6400	protein-coding gene	gene with protein product	"importin 1"	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1656G>T	17.37:g.45750492G>T	ENSP00000290158:p.Leu552Phe		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.L552F	ENST00000290158.4	37	c.1656	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.52	-2.18	0.07037	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	L	0.50333	1.59	0.38797	D	0.955109	P;P	0.46784	0.884;0.776	B;B	0.40782	0.34;0.198	T	0.60301	-0.7290	9	0.56958	D	0.05	-16.5928	7.3697	0.26794	0.4933:0.1129:0.3938:0.0	.	336;552	F5H4R7;Q14974	.;IMB1_HUMAN	F	407;552;407;336	ENSP00000438253:L407F;ENSP00000290158:L552F;ENSP00000438964:L407F;ENSP00000445006:L336F	ENSP00000290158:L552F	L	+	3	2	KPNB1	43105491	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	1.490000	0.35573	-0.010000	0.14271	0.655000	0.94253	TTG	KPNB1	-	superfamily_ARM-type_fold	ENSG00000108424		0.463	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	HGNC	protein_coding	OTTHUMT00000089755.2	-	0	66	0	G	NM_002265		45750492	1	tier1	-	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	21.21	26	7	SNP	0.952	T	T	45750492	G	T	45750492	3	4	107	1	0	0	0	0	1	0	0	0	8462	1339	47	3	1706	3	KPNB1	17	45750492	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	8407401	45750492	35444718	100	29509											
MYCBPAP	84073	genome.wustl.edu	37	chr17	48597137	48597137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaagccccactccatccGggtggagacaggtgaggcgc	9	4	15	13	2	0	2	0	1	0	1	2	4	2	3	4	5	1	0	4	5	1	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:48597137G>A	ENST00000323776.5	+	7	1196	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R308Q|MYCBPAP_ENST00000468821.1_3'UTR	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACTCCATCCGGGTGGAGACA	0.572																																																	0													54	46	49					17																	48597137		2203	4300	6503	SO:0001583	missense	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1034G>A	17.37:g.48597137G>A	ENSP00000323184:p.Arg345Gln			Missense_Mutation	SNP	NULL	p.R345Q	ENST00000323776.5	37	c.1034	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	G	0.302	-0.973259	0.02215	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.38887	1.11;1.11	5.75	1.77	0.24775	.	0.543895	0.20806	N	0.085327	T	0.12732	0.0309	N	0.01140	-0.99	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.04013	0.001;0.001	T	0.34750	-0.9816	10	0.02654	T	1	-14.4244	10.4996	0.44798	0.5897:0.0:0.4103:0.0	.	308;345	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	Q	345;308	ENSP00000323184:R345Q;ENSP00000397209:R308Q	ENSP00000323184:R345Q	R	+	2	0	MYCBPAP	45952136	0.087000	0.21565	0.488000	0.27440	0.151000	0.21798	0.335000	0.19806	0.123000	0.18342	-0.471000	0.05019	CGG	MYCBPAP	-	NULL	ENSG00000136449		0.572	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	-	0	32	0	G	NM_032133		48597137	1	tier1	-	no_errors	ENST00000323776	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.189	A	A	48597137	G	A	48597137	3	1	107	1	0	0	0	0	1	0	0	0	10057	1116	39	1	1060	1	MYCBPAP	17	48597137	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	2846645	48597137	32598073	101	29510											
USP32	84669	genome.wustl.edu	37	chr17	58289386	58289386	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatactggagacttaccCttgtgtctatctattttact	11	17	5	8	0	2	1	0	0	2	1	2	2	2	1	1	1	3	0	1	1	7	8	rs200946847	byFrequency	TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr17:58289386C>G	ENST00000300896.4	-	19	2372	c.2178G>C	c.(2176-2178)aaG>aaC	p.K726N	USP32_ENST00000592339.1_Splice_Site_p.K396N	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	726					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GAGACTTACCCTTGTGTCTAT	0.313																																																	0													68	67	67					17																	58289386		2203	4298	6501	SO:0001630	splice_region_variant	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"Ubiquitin-specific peptidases", "EF-hand domain containing"	19143	protein-coding gene	gene with protein product		607740	"ubiquitin specific protease 32"			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2179+1G>C	17.37:g.58289386C>G			Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin	p.K726N	ENST00000300896.4	37	c.2178	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064037	0.55432	.	.	ENSG00000170832	ENST00000300896	T	0.49139	0.79	4.93	1.82	0.25136	.	0.091385	0.85682	D	0.000000	T	0.28200	0.0696	L	0.29908	0.895	0.80722	D	1	B	0.33379	0.41	B	0.26969	0.075	T	0.03784	-1.1004	10	0.30854	T	0.27	.	7.4583	0.27280	0.0:0.4866:0.0:0.5134	.	726	Q8NFA0	UBP32_HUMAN	N	726	ENSP00000300896:K726N	ENSP00000300896:K726N	K	-	3	2	USP32	55644168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.986000	0.49370	0.210000	0.20664	0.655000	0.94253	AAG	USP32	-	NULL	ENSG00000170832		0.313	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	-	0	43	0	C	NM_032582	Missense_Mutation	58289386	-1	tier1	-	no_errors	ENST00000300896	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	G	G	58289386	C	G	58289386	5	3	107	1	0	0	0	0	0	0	1	0	17112	695	24	5	2700	5	USP32	17	58289386	Splice_Site	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	9692249	58289386	22905824	102	29511											
TCF3	6929	genome.wustl.edu	37	chr19	1632397	1632397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgagctgggccggtcCtcaagacctgcaggcaggac	8	5	15	13	1	1	2	1	1	0	1	2	4	2	3	4	4	3	3	4	4	1	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr19:1632397C>A	ENST00000262965.5	-	4	497	c.153G>T	c.(151-153)gaG>gaT	p.E51D	TCF3_ENST00000588136.1_Missense_Mutation_p.E51D|TCF3_ENST00000453954.2_5'Flank|TCF3_ENST00000395423.3_Intron|TCF3_ENST00000344749.5_Missense_Mutation_p.E51D	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0	CTNNB1-binding. {ECO:0000250}.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGGTCCTCAAGACCTG	0.622			T	"PBX1, HLF, TFPT"	pre B-ALL																																			Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	0													12	13	13					19																	1632397		2197	4299	6496	SO:0001583	missense	0			M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"Basic helix-loop-helix proteins"	11633	protein-coding gene	gene with protein product	"transcription factor E2-alpha", "immunoglobulin transcription factor 1", "kappa-E2-binding factor", "E2A immunoglobulin enhancer-binding factor E12/E47", "VDR interacting repressor"	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.153G>T	19.37:g.1632397C>A	ENSP00000262965:p.Glu51Asp		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E51D	ENST00000262965.5	37	c.153	CCDS12074.1	19	.	.	.	.	.	.	.	.	.	.	c	6.412	0.444048	0.12164	.	.	ENSG00000071564	ENST00000262965;ENST00000344749;ENST00000453954	T;T	0.49720	0.77;0.77	3.79	3.79	0.43588	.	.	.	.	.	T	0.48660	0.1512	L	0.33339	1.005	0.31913	N	0.614387	B;D	0.64830	0.096;0.994	B;D	0.70716	0.05;0.97	T	0.48186	-0.9057	9	0.15499	T	0.54	.	5.5768	0.17228	0.2134:0.6784:0.0:0.1082	.	51;51	P15923-2;P15923	.;TFE2_HUMAN	D	51	ENSP00000262965:E51D;ENSP00000344375:E51D	ENSP00000262965:E51D	E	-	3	2	TCF3	1583397	0.995000	0.38212	1.000000	0.80357	0.945000	0.59286	0.220000	0.17660	2.072000	0.62099	0.537000	0.68136	GAG	TCF3	-	NULL	ENSG00000071564		0.622	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCF3	HGNC	protein_coding	OTTHUMT00000449367.1	-	0	30	0	C	NM_003200		1632397	-1	tier1	-	no_errors	ENST00000262965	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	A	A	1632397	C	A	1632397	3	1	107	1	0	0	0	0	1	0	0	0	15741	680	24	3	2106	3	TCF3	19	1632397	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09		1632397	57496586	103	29512											
REXO1	57455	genome.wustl.edu	37	chr19	1823683	1823683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggggcctgcagcaagctCgccgatgccctctgcgcctg	4	6	15	16	4	1	0	0	0	1	0	2	1	1	0	4	2	5	3	4	2	1	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr19:1823683C>T	ENST00000170168.4	-	4	2212	c.2118G>A	c.(2116-2118)gcG>gcA	p.A706A	CTB-31O20.4_ENST00000587741.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000593201.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	706						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAAGCTCGCCGATGCCC	0.741																																																	0													11	10	10					19																	1823683		2150	4247	6397	SO:0001819	synonymous_variant	0			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"elongin A binding protein 1"	609614	"transcription elongation factor B polypeptide 3 binding protein 1"	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2118G>A	19.37:g.1823683C>T			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.A706	ENST00000170168.4	37	c.2118	CCDS32866.1	19																																																																																			REXO1	-	NULL	ENSG00000079313		0.741	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	-	0	17	0	C	NM_020695		1823683	-1	tier1	-	no_errors	ENST00000170168	ensembl	human	known	74_37	silent	62.50	3	5	SNP	0.998	T	T	1823683	C	T	1823683	2	4	107	1	0	0	0	0	0	0	0	1	13286	871	31	1		1	REXO1	19	1823683	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	191286	1823683	57305300	104	29513											
C3	718	genome.wustl.edu	37	chr19	6697509	6697509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttacggtctgctggtgaCgcctcttggtggtggccagg	3	12	17	9	2	2	1	0	1	2	0	2	1	2	1	2	7	2	2	2	7	1	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr19:6697509C>T	ENST00000245907.6	-	21	2734	c.2642G>A	c.(2641-2643)cGt>cAt	p.R881H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	881					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTGCTGGTGACGCCTCTTGGT	0.582																																																	0													111	87	95					19																	6697509		2203	4300	6503	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2642G>A	19.37:g.6697509C>T	ENSP00000245907:p.Arg881His		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.R881H	ENST00000245907.6	37	c.2642	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946206	0.73672	.	.	ENSG00000125730	ENST00000245907	T	0.34667	1.35	5.96	1.52	0.23074	.	2.382910	0.01040	N	0.004281	T	0.57446	0.2054	M	0.80746	2.51	0.09310	N	0.999999	D	0.71674	0.998	P	0.59012	0.85	T	0.12116	-1.0560	10	0.62326	D	0.03	.	5.3561	0.16061	0.0:0.5663:0.1398:0.2939	.	881	P01024	CO3_HUMAN	H	881	ENSP00000245907:R881H	ENSP00000245907:R881H	R	-	2	0	C3	6648509	0.013000	0.17824	0.396000	0.26296	0.836000	0.47400	0.773000	0.26661	0.416000	0.25844	0.650000	0.86243	CGT	C3	-	NULL	ENSG00000125730		0.582	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0	60	0	C	NM_000064		6697509	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	25.56	67	23	SNP	0.064	T	T	6697509	C	T	6697509	3	4	107	1	0	0	0	0	1	0	0	0	2211	536	19	1	2433	1	C3	19	6697509	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	4873826	6697509	52431474	105	29514											
TMEM161A	54929	genome.wustl.edu	37	chr19	19232141	19232141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgcgtctccccaaacGgcggctggtgcaggaagtcc	10	5	13	13	4	1	1	0	0	1	1	3	2	2	2	3	4	3	2	3	4	3	0	rs376515835		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr19:19232141G>T	ENST00000162044.9	-	9	954	c.890C>A	c.(889-891)cCg>cAg	p.P297Q	TMEM161A_ENST00000587583.2_Missense_Mutation_p.P272Q|TMEM161A_ENST00000450333.2_Missense_Mutation_p.P194Q	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	297					cellular response to oxidative stress (GO:0034599)|cellular response to UV (GO:0034644)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of DNA repair (GO:0045739)|response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CTCCCCAAACGGCGGCTGGTG	0.627																																																	0													22	26	25					19																	19232141		2184	4274	6458	SO:0001583	missense	0			BC005210	CCDS12393.1, CCDS58656.1	19p13.11	2008-02-05				ENSG00000064545			26020	protein-coding gene	gene with protein product						12975309	Standard	NM_017814		Approved	FLJ39645, FLJ20422	uc002nlg.4	Q9NX61		ENST00000162044.9:c.890C>A	19.37:g.19232141G>T	ENSP00000162044:p.Pro297Gln		B3KUE0|G5E9M6|Q7L2Y1	Missense_Mutation	SNP	pfam_Transmembrane_161A/B	p.P297Q	ENST00000162044.9	37	c.890	CCDS12393.1	19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.229493	0.79688	.	.	ENSG00000064545	ENST00000450333;ENST00000162044	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.72982	0.965;0.979;0.948	T	0.70898	-0.4747	9	0.16896	T	0.51	-11.5018	13.438	0.61094	0.0:0.0:1.0:0.0	.	194;194;297	G5E9M6;B3KUE0;Q9NX61	.;.;T161A_HUMAN	Q	194;297	.	ENSP00000162044:P297Q	P	-	2	0	TMEM161A	19093141	1.000000	0.71417	0.281000	0.24762	0.010000	0.07245	6.848000	0.75409	2.257000	0.74773	0.591000	0.81541	CCG	TMEM161A	-	pfam_Transmembrane_161A/B	ENSG00000064545		0.627	TMEM161A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161A	HGNC	protein_coding	OTTHUMT00000460089.2	-	0	65	0	G	NM_017814		19232141	-1	tier1	-	no_errors	ENST00000162044	ensembl	human	known	74_37	missense	8.75	73	7	SNP	0.976	T	T	19232141	G	T	19232141	3	4	107	1	0	0	0	0	1	0	0	0	16123	1116	39	2	565	2	TMEM161A	19	19232141	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	12534632	19232141	39896842	106	29515											
RCN3	57333	genome.wustl.edu	37	chr19	50031852	50031852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggcggcccccctgagCgacgctccccatgatgacgc	7	4	11	19	4	0	3	0	3	0	0	1	4	1	3	6	2	1	1	6	2	0	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr19:50031852C>T	ENST00000270645.3	+	2	570	c.123C>T	c.(121-123)agC>agT	p.S41S	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	41						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCCCCTGAGCGACGCTCCCC	0.652																																																	0													64	66	66					19																	50031852		2203	4300	6503	SO:0001819	synonymous_variant	0			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"EF-hand domain containing"	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.123C>T	19.37:g.50031852C>T			Q9HBZ8	Silent	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.S41	ENST00000270645.3	37	c.123	CCDS12771.1	19																																																																																			RCN3	-	NULL	ENSG00000142552		0.652	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN3	HGNC	protein_coding	OTTHUMT00000465261.1	-	0	33	0	C	NM_020650		50031852	1	tier1	-	no_errors	ENST00000270645	ensembl	human	known	74_37	silent	95.45	1	21	SNP	0.998	T	T	50031852	C	T	50031852	2	4	107	1	0	0	0	0	0	0	0	1	13226	767	27	1		1	RCN3	19	50031852	Silent	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	30799711	50031852	9097131	107	29516											
KIR3DL2	3812	genome.wustl.edu	37	chr19	55378146	55378146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccaaagttgtctcctGcccacgagcaccacagtcag	11	7	8	15	1	2	1	1	0	1	1	4	2	3	1	4	0	2	2	4	0	1	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr19:55378146G>T	ENST00000326321.3	+	9	1361	c.1328G>T	c.(1327-1329)tGc>tTc	p.C443F	KIR3DL2_ENST00000270442.5_Missense_Mutation_p.C426F|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.C443F|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	443					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTTGTCTCCTGCCCACGAGCA	0.527																																																	0													230	227	228					19																	55378146		2203	4300	6503	SO:0001583	missense	0			L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"Killer cell immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1328G>T	19.37:g.55378146G>T	ENSP00000325525:p.Cys443Phe		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.C443F	ENST00000326321.3	37	c.1328	CCDS12906.1	19	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691952	0.15039	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00526	7.12;7.1;6.8	1.01	-2.02	0.07388	.	.	.	.	.	T	0.01092	0.0036	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.85130	0.997;0.992;0.996	T	0.39418	-0.9615	9	0.46703	T	0.11	.	5.3113	0.15831	0.456:0.0:0.544:0.0	.	426;443;443	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	F	443;443;426	ENSP00000384528:C443F;ENSP00000325525:C443F;ENSP00000270442:C426F	ENSP00000384528:C443F	C	+	2	0	KIR3DL1;KIR3DL2	60069958	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.593000	0.05740	-1.116000	0.02969	-0.712000	0.03635	TGC	KIR3DL2	-	NULL	ENSG00000240403		0.527	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIR3DL2	HGNC	protein_coding	OTTHUMT00000141241.1	-	0	49	0	G			55378146	1	tier1	-	no_errors	ENST00000326321	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.000	T	T	55378146	G	T	55378146	3	4	107	1	0	0	0	0	1	0	0	0	8348	1319	46	3	1362	3	KIR3DL2	19	55378146	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	5346294	55378146	3750837	108	29517											
PHF20	51230	genome.wustl.edu	37	chr20	34505482	34505482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatggccaagatgtggatgtGaccaccaacccagatgagga	13	7	12	9	0	0	4	0	2	0	2	0	6	0	6	4	3	1	0	4	3	3	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr20:34505482G>A	ENST00000374012.3	+	13	2031	c.1902G>A	c.(1900-1902)gtG>gtA	p.V634V	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	634					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ATGTGGATGTGACCACCAACC	0.488																																																	0													152	115	128					20																	34505482		2203	4300	6503	SO:0001819	synonymous_variant	0			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"Tudor domain containing", "Zinc fingers, PHD-type"	16098	protein-coding gene	gene with protein product	"tudor domain containing 20A"	610335	"chromosome 20 open reading frame 104"	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1902G>A	20.37:g.34505482G>A			A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.V634	ENST00000374012.3	37	c.1902	CCDS13268.1	20																																																																																			PHF20	-	NULL	ENSG00000025293		0.488	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	-	0	74	0	G	NM_016436		34505482	1	tier1	-	no_errors	ENST00000374012	ensembl	human	known	74_37	silent	70.33	26	64	SNP	0.999	A	A	34505482	G	A	34505482	2	1	107	1	0	0	0	0	0	0	0	1	11870	1277	45	3		3	PHF20	20	34505482	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		34505482	28520038	109	29518											
DLGAP4	22839	genome.wustl.edu	37	chr20	35060728	35060728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccgctccaacatctcagGctggtggagctccgatgaca	9	7	11	14	2	1	1	1	1	1	0	4	3	3	2	3	3	3	3	3	3	1	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr20:35060728G>T	ENST00000373907.2	+	2	807	c.608G>T	c.(607-609)gGc>gTc	p.G203V	DLGAP4_ENST00000401952.2_Missense_Mutation_p.G203V|DLGAP4_ENST00000373913.3_Missense_Mutation_p.G203V|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G203V			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	203					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AACATCTCAGGCTGGTGGAGC	0.672																																																	0													39	48	45					20																	35060728		2203	4299	6502	SO:0001583	missense	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.608G>T	20.37:g.35060728G>T	ENSP00000363014:p.Gly203Val		E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.G203V	ENST00000373907.2	37	c.608		20	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390864	0.82902	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.28255	1.62;1.62;1.67;1.67	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62358	-0.6871	10	0.87932	D	0	.	17.8061	0.88601	0.0:0.0:1.0:0.0	.	203	Q9Y2H0-1	.	V	203	ENSP00000363023:G203V;ENSP00000384954:G203V;ENSP00000363014:G203V;ENSP00000341633:G203V	ENSP00000341633:G203V	G	+	2	0	DLGAP4	34494142	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	6.712000	0.74681	2.438000	0.82558	0.462000	0.41574	GGC	DLGAP4	-	NULL	ENSG00000080845		0.672	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	-	0	51	0	G	NM_014902		35060728	1	tier1	-	no_errors	ENST00000339266	ensembl	human	known	74_37	missense	6.17	76	5	SNP	1.000	T	T	35060728	G	T	35060728	3	4	107	1	0	0	0	0	1	0	0	0	4576	1203	42	3	610	3	DLGAP4	20	35060728	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	555246	35060728	27964792	110	29519											
DNTTIP1	116092	genome.wustl.edu	37	chr20	44424079	44424079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtcggagctgcctggaGcaggtgagaccaaaggggac	9	5	17	10	1	0	1	0	1	0	1	1	5	0	4	3	5	3	2	3	5	1	0			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr20:44424079G>T	ENST00000372622.3	+	4	437	c.369G>T	c.(367-369)gaG>gaT	p.E123D		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	123						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GCTGCCTGGAGCAGGTGAGAC	0.557																																																	0													39	26	30					20																	44424079		2202	4300	6502	SO:0001583	missense	0			AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)", "TdT binding protein"	611388	"chromosome 20 open reading frame 167"	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.369G>T	20.37:g.44424079G>T	ENSP00000361705:p.Glu123Asp		B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	NULL	p.E123D	ENST00000372622.3	37	c.369	CCDS13369.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.32|19.32	3.805549|3.805549	0.70682|0.70682	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000372622;ENST00000449078;ENST00000415790|ENST00000435014	T;T|.	0.56941|.	0.43;0.56|.	5.47|5.47	-0.00389|-0.00389	0.14024|0.14024	.|.	0.088059|.	0.85682|.	D|.	0.000000|.	T|T	0.54935|0.54935	0.1889|0.1889	L|L	0.46741|0.46741	1.465|1.465	0.44295|0.44295	D|D	0.997168|0.997168	P|.	0.50272|.	0.933|.	P|.	0.47251|.	0.542|.	T|T	0.48790|0.48790	-0.9004|-0.9004	10|5	0.44086|.	T|.	0.13|.	-27.3276|-27.3276	10.3318|10.3318	0.43827|0.43827	0.3922:0.0:0.6078:0.0|0.3922:0.0:0.6078:0.0	.|.	123|.	Q9H147|.	TDIF1_HUMAN|.	D|I	123;118;83|50	ENSP00000361705:E123D;ENSP00000392509:E83D|.	ENSP00000361705:E123D|.	E|S	+|+	3|2	2|0	DNTTIP1|DNTTIP1	43857486|43857486	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.942000|0.942000	0.58702|0.58702	0.816000|0.816000	0.27267|0.27267	0.151000|0.151000	0.19162|0.19162	-0.147000|-0.147000	0.13772|0.13772	GAG|AGC	DNTTIP1	-	NULL	ENSG00000101457		0.557	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNTTIP1	HGNC	protein_coding	OTTHUMT00000079502.1	-	0	28	0	G	NM_052951		44424079	1	tier1	-	no_errors	ENST00000372622	ensembl	human	known	74_37	missense	23.08	20	6	SNP	0.995	T	T	44424079	G	T	44424079	3	4	107	1	0	0	0	0	1	0	0	0	4695	962	34	3	383	3	DNTTIP1	20	44424079	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	9363351	44424079	18601441	111	29520											
ZMYND8	23613	genome.wustl.edu	37	chr20	45927652	45927652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacagggtctgtggtgagtgGctgcttcatatagtaaaacg	11	11	13	6	1	2	1	1	1	1	0	2	1	2	1	0	3	3	3	0	3	5	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr20:45927652G>T	ENST00000311275.7	-	4	467	c.214C>A	c.(214-216)Cca>Aca	p.P72T	ZMYND8_ENST00000262975.4_Missense_Mutation_p.P72T|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P72T|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P99T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P92T|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P92T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P92T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	72					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGGTGAGTGGCTGCTTCATA	0.448																																																	0													133	129	130					20																	45927652		2203	4300	6503	SO:0001583	missense	0			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"Zinc fingers, MYND-type", "Zinc fingers, PHD-type"	9397	protein-coding gene	gene with protein product		615713	"protein kinase C binding protein 1"	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.214C>A	20.37:g.45927652G>T	ENSP00000312237:p.Pro72Thr		B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.P99T	ENST00000311275.7	37	c.295		20	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735710	0.89482	.	.	ENSG00000101040	ENST00000311275;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000536340;ENST00000355972;ENST00000461685	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.11	6.11	0.99139	Zinc finger, FYVE/PHD-type (1);	0.054084	0.85682	N	0.000000	T	0.55641	0.1933	L	0.29908	0.895	0.80722	D	1	D;D;D;D;P;D;D;D	0.89917	1.0;0.999;0.997;0.999;0.683;0.999;1.0;1.0	D;D;D;D;B;D;D;D	0.91635	0.998;0.941;0.991;0.957;0.256;0.957;0.999;0.998	T	0.44205	-0.9343	9	.	.	.	-12.696	20.7342	0.99715	0.0:0.0:1.0:0.0	.	99;92;92;72;92;92;72;92	F5H0X3;Q569J9;Q9ULU4-7;Q9ULU4-9;Q9ULU4-12;Q9ULU4-13;Q9ULU4;Q9ULU4-8	.;.;.;.;.;.;PKCB1_HUMAN;.	T	72;72;92;92;99;72;92	ENSP00000312237:P72T;ENSP00000262975:P72T;ENSP00000420095:P92T;ENSP00000335537:P92T;ENSP00000439800:P99T;ENSP00000348246:P72T;ENSP00000418210:P92T	.	P	-	1	0	ZMYND8	45361059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	CCA	ZMYND8	-	superfamily_Znf_FYVE_PHD	ENSG00000101040		0.448	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	-	0	69	0	G	NM_183047		45927652	-1	tier1	-	no_errors	ENST00000536340	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T	T	45927652	G	T	45927652	3	4	107	1	0	0	0	0	1	0	0	0	17759	1203	42	3	3372	3	ZMYND8	20	45927652	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	1503573	45927652	17097868	112	29521											
SYCP2	10388	genome.wustl.edu	37	chr20	58453093	58453093	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggctgtcccttttccaaGgatgatcctgtaattcagaa	9	14	8	10	0	1	2	1	1	0	1	4	3	4	3	3	2	0	2	3	2	3	5	rs368288363		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr20:58453093G>T	ENST00000357552.3	-	32	3174	c.2949C>A	c.(2947-2949)tcC>tcA	p.S983S	SYCP2_ENST00000371001.2_Silent_p.S983S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	983					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CCTTTTCCAAGGATGATCCTG	0.269																																																	0													80	83	82					20																	58453093		2203	4296	6499	SO:0001819	synonymous_variant	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2949C>A	20.37:g.58453093G>T			A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	NULL	p.S983	ENST00000357552.3	37	c.2949	CCDS13482.1	20																																																																																			SYCP2	-	NULL	ENSG00000196074		0.269	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	-	0	71	0	G	NM_014258		58453093	-1	tier1	-	no_errors	ENST00000357552	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.090	T	T	58453093	G	T	58453093	2	4	107	1	0	0	0	0	0	0	0	1	15479	987	35	3		3	SYCP2	20	58453093	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	12525441	58453093	4572427	113	29522											
ITGB2	3689	genome.wustl.edu	37	chr21	46320286	46320286	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtgacagcggccgtcGttgggggtcaggatggcgcc	5	7	18	11	4	1	1	1	1	0	0	3	2	2	2	3	6	1	1	3	6	0	1			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr21:46320286G>A	ENST00000397850.2	-	8	1298	c.846C>T	c.(844-846)aaC>aaT	p.N282N	ITGB2_ENST00000355153.4_Silent_p.N282N|ITGB2_ENST00000302347.5_Silent_p.N282N|ITGB2_ENST00000397852.1_Silent_p.N282N|ITGB2_ENST00000397857.1_Silent_p.N282N|ITGB2_ENST00000397854.3_Silent_p.N225N			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	282	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCGGCCGTCGTTGGGGGTCA	0.632																																																	0													108	89	95					21																	46320286		2203	4300	6503	SO:0001819	synonymous_variant	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"CD molecules", "Complement system", "Integrins"	6155	protein-coding gene	gene with protein product		600065	"integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.846C>T	21.37:g.46320286G>A			B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.N282	ENST00000397850.2	37	c.846	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000160255		0.632	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	-	0	75	0	G	NM_000211		46320286	-1	tier1	-	no_errors	ENST00000302347	ensembl	human	known	74_37	silent	9.68	84	9	SNP	0.153	A	A	46320286	G	A	46320286	2	1	107	1	0	0	0	0	0	0	0	1	7921	1136	40	1		1	ITGB2	21	46320286	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		46320286	1809609	114	29523											
HIC2	23119	genome.wustl.edu	37	chr22	21799838	21799839	+	Frame_Shift_Ins	INS	-	-	T																															aaggtctgggccgggctgtcINStgcccagctggcggggaggc																										TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr22:21799838_21799839insT	ENST00000443632.2	+	2	1026_1027	c.654_655insT	c.(655-657)tgcfs	p.C219fs	HIC2_ENST00000407598.2_Frame_Shift_Ins_p.C219fs|HIC2_ENST00000407464.2_Frame_Shift_Ins_p.C219fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	219					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GCCGGGCTGTCTGCCCAGCTGG	0.668																																					NSCLC(23;437 858 2282 27947 40366)												0																																										SO:0001589	frameshift_variant	0			AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.655dupT	22.37:g.21799839_21799839dupT	ENSP00000387757:p.Cys219fs		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.C218fs	ENST00000443632.2	37	c.654_655	CCDS13789.1	22																																																																																			HIC2	-	NULL	ENSG00000169635		0.668	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIC2	HGNC	protein_coding	OTTHUMT00000320061.2		0	8	0	-			21799839	1	tier1		no_errors	ENST00000407464	ensembl	human	known	74_37	frame_shift_ins	33.33	4	2	INS	0.336:0.369	T	T	21799839	-	T	21799838	7	5	107	1	0	1	1	0	0	0	0	0	7129	900	32	0	660	0	HIC2	22	21799838	Frame_Shift_Ins	INS	-	TCGA-LN-A49V-01A-11D-A247-09		21799838	29504728	115	29524											
SYN3	8224	genome.wustl.edu	37	chr22	32992674	32992674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatacctttcccattccagCgtgggcatgtcccagcttga	7	12	8	14	1	1	1	1	1	0	0	4	1	4	1	4	1	3	2	4	1	1	4	rs139005191		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr22:32992674C>T	ENST00000358763.2	-	7	1002	c.760G>A	c.(760-762)Gct>Act	p.A254T	SYN3_ENST00000332840.5_Missense_Mutation_p.A254T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	254	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCCATTCCAGCGTGGGCATGT	0.527																																																	0								C	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	179	129	146		757,760,760	4	1	22	dbSNP_134	146	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	SYN3	NM_001135774.1,NM_003490.3,NM_133633.2	58,58,58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	253/580,254/581,254/445	32992674	4,13002	2203	4300	6503	SO:0001583	missense	0			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.760G>A	22.37:g.32992674C>T	ENSP00000351614:p.Ala254Thr		B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin	p.A254T	ENST00000358763.2	37	c.760	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228765	0.58777	0.0	4.65E-4	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.32023	1.47;1.47	5.05	4.02	0.46733	Synapsin, conserved site (1);ATP-grasp fold, subdomain 1 (1);Synapsin, ATP-binding domain (1);	0.069168	0.56097	D	0.000022	T	0.28333	0.0700	M	0.70275	2.135	0.45806	D	0.998684	P;P;P	0.38420	0.63;0.63;0.63	B;B;B	0.30943	0.122;0.122;0.122	T	0.16247	-1.0409	10	0.51188	T	0.08	.	9.9117	0.41411	0.0:0.9018:0.0:0.0982	.	253;254;254	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	T	254	ENSP00000351614:A254T;ENSP00000330219:A254T	ENSP00000330219:A254T	A	-	1	0	SYN3	31322674	0.980000	0.34600	0.997000	0.53966	0.996000	0.88848	2.547000	0.45786	2.340000	0.79590	0.655000	0.94253	GCT	SYN3	-	pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type	ENSG00000185666		0.527	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	-	0	52	0	C			32992674	-1	tier1	rs139005191	no_errors	ENST00000332840	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.992	T	T	32992674	C	T	32992674	3	4	107	1	0	0	0	0	1	0	0	0	15489	768	27	1	1014	1	SYN3	22	32992674	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	11192836	32992674	18311892	116	29525											
EP300	2033	genome.wustl.edu	37	chr22	41568668	41568668	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaatgaaagcacagatGtaagggcattgagtttcctt	13	10	10	8	0	0	3	0	2	0	1	1	3	1	3	2	1	2	5	2	1	3	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr22:41568668G>A	ENST00000263253.7	+	28	5836		c.e28+1		RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.?(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AAGCACAGATGTAAGGGCATT	0.378			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"L, E"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											93	96	95					22																	41568668		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"Chromatin-modifying enzymes / K-acetyltransferases"	3373	protein-coding gene	gene with protein product	"histone acetyltransferase p300"	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4617+1G>A	22.37:g.41568668G>A			B1AKC2	Splice_Site	SNP	-	e28+1	ENST00000263253.7	37	c.4617+1	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999998	0.93227	.	.	ENSG00000100393	ENST00000263253	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39898614	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.760000	0.98935	2.941000	0.99782	0.655000	0.94253	.	EP300	-	-	ENSG00000100393		0.378	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	-	0	28	0	G	NM_001429	Intron	41568668	1	tier1	-	no_errors	ENST00000263253	ensembl	human	known	74_37	splice_site	90.00	3	27	SNP	1.000	A	A	41568668	G	A	41568668	5	1	107	1	0	0	0	0	0	0	1	0	5164	1391	48	3	4728	3	EP300	22	41568668	Splice_Site	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	8575994	41568668	9735898	117	29526											
SCUBE1	80274	genome.wustl.edu	37	chr22	43600129	43600129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggatgcgccagcacgtcGaagagggccttgatcagctt	8	8	15	10	3	1	2	1	1	0	1	2	4	1	3	2	3	3	2	2	3	1	2	rs375344449		TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chr22:43600129G>A	ENST00000360835.4	-	22	2967	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	947					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCAGCACGTCGAAGAGGGCCT	0.577																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	138	124	129		2841	-6	0.9	22		129	0,8600		0,0,4300	no	coding-synonymous	SCUBE1	NM_173050.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		947/989	43600129	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2841C>T	22.37:g.43600129G>A			Q5R336	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.F947	ENST00000360835.4	37	c.2841	CCDS14048.1	22																																																																																			SCUBE1	-	NULL	ENSG00000159307		0.577	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	-	0	21	0	G	NM_173050		43600129	-1	tier1	-	no_errors	ENST00000360835	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.961	A	A	43600129	G	A	43600129	2	1	107	1	0	0	0	0	0	0	0	1	13989	1049	37	1		1	SCUBE1	22	43600129	Silent	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	2031461	43600129	7704437	118	29527											
MAGEB6	158809	genome.wustl.edu	37	chrX	26213137	26213137	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatacccacatctgtatGaagacgctttgatagatgag	12	13	9	7	1	1	5	0	3	1	2	1	5	1	5	1	0	1	3	1	0	5	6			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chrX:26213137G>T	ENST00000379034.1	+	2	1323	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	392	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACATCTGTATGAAGACGCTTT	0.517																																																	0													120	111	114					X																	26213137		2202	4300	6502	SO:0001587	stop_gained	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.1174G>T	X.37:g.26213137G>T	ENSP00000368320:p.Glu392*		Q6GS19|Q9H219	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E392*	ENST00000379034.1	37	c.1174	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676031	0.67928	.	.	ENSG00000176746	ENST00000379034	.	.	.	3.29	2.39	0.29439	.	0.775202	0.11311	U	0.577083	.	.	.	.	.	.	0.24662	N	0.99346	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.8332	0.23921	0.0:0.0:0.7239:0.2761	.	.	.	.	X	392	.	ENSP00000368320:E392X	E	+	1	0	MAGEB6	26123058	0.106000	0.21978	0.036000	0.18154	0.015000	0.08874	0.298000	0.19120	0.738000	0.32606	0.594000	0.82650	GAA	MAGEB6	-	pfscan_MAGE	ENSG00000176746		0.517	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	-	0	55	0	G	NM_173523		26213137	1	tier1	-	no_errors	ENST00000379034	ensembl	human	known	74_37	nonsense	13.33	26	4	SNP	0.037	T	T	26213137	G	T	26213137	4	4	107	1	0	0	0	0	0	1	0	0	9217	1291	45	3	1176	3	MAGEB6	23	26213137	Nonsense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		26213137	129057423	119	29528											
DDX3X	1654	genome.wustl.edu	37	chrX	41198321	41198321	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcctcatttaaggaacCgagaagctactaaaggtagg	13	10	9	9	1	1	1	1	0	0	1	3	3	3	2	3	3	3	2	3	3	7	6			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chrX:41198321C>T	ENST00000399959.2	+	3	991	c.136C>T	c.(136-138)Cga>Tga	p.R46*	DDX3X_ENST00000441189.2_Nonsense_Mutation_p.R46*|DDX3X_ENST00000542215.1_Nonsense_Mutation_p.R90*|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	46	Interaction with EIF4E.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTAAGGAACCGAGAAGCTAC	0.338										HNSCC(61;0.18)																																							0													90	77	81					X																	41198321		1804	4075	5879	SO:0001587	stop_gained	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"DEAD-boxes"	2745	protein-coding gene	gene with protein product		300160	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.136C>T	X.37:g.41198321C>T	ENSP00000382840:p.Arg46*		A8K538|B4E3E8|O15536	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R46*	ENST00000399959.2	37	c.136	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320583	0.81469	.	.	ENSG00000215301	ENST00000399959;ENST00000441189;ENST00000542215	.	.	.	5.42	3.0	0.34707	.	0.052093	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1954	10.7934	0.46447	0.6138:0.3862:0.0:0.0	.	.	.	.	X	46;46;90	.	ENSP00000382840:R46X	R	+	1	2	DDX3X	41083265	1.000000	0.71417	0.999000	0.59377	0.798000	0.45092	4.852000	0.62904	0.184000	0.20083	-0.490000	0.04691	CGA	DDX3X	-	NULL	ENSG00000215301		0.338	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	-	0	23	0	C	NM_024005		41198321	1	tier1	-	no_errors	ENST00000399959	ensembl	human	known	74_37	nonsense	44.00	14	11	SNP	1.000	T	T	41198321	C	T	41198321	4	4	107	1	0	0	0	0	0	1	0	0	4367	644	23	1	146	1	DDX3X	23	41198321	Nonsense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	14985184	41198321	114072239	120	29529											
USP51	158880	genome.wustl.edu	37	chrX	55514608	55514608	+	Frame_Shift_Del	DEL	A	A	-																															tgtttctcagtgaagcagccAaaaaagacacaggagagaca																										TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chrX:55514608delA	ENST00000500968.3	-	2	847	c.765delT	c.(763-765)tttfs	p.F255fs	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	255					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGAAGCAGCCAAAAAAGACAC	0.423																																																	0													123	113	116					X																	55514608		2203	4300	6503	SO:0001589	frameshift_variant	0			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"Ubiquitin-specific peptidases"	23086	protein-coding gene	gene with protein product			"ubiquitin specific protease 51"			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.765delT	X.37:g.55514608delA	ENSP00000423333:p.Phe255fs		Q8IWJ8	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.F255fs	ENST00000500968.3	37	c.765	CCDS14370.1	X																																																																																			USP51	-	pfam_Znf_UBP,pfscan_Znf_UBP	ENSG00000247746		0.423	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2		0	47	0	A	NM_201286		55514608	-1	tier1		no_errors	ENST00000500968	ensembl	human	known	74_37	frame_shift_del	7.14	26	2	DEL	0.999	-	-	55514608	A	-	55514608	7	5	107	1	0	1	0	1	0	0	0	0	17132	127	5	0	1374	0	USP51	23	55514608	Frame_Shift_Del	DEL	A	TCGA-LN-A49V-01A-11D-A247-09	14316287	55514608	99755952	121	29530											
GLUD2	2747	genome.wustl.edu	37	chrX	120182379	120182379	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtcttccatgggattGaaaacttcatcaatgaagct	11	13	10	7	0	3	2	2	2	1	0	4	3	4	3	1	2	2	1	1	2	4	3			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chrX:120182379G>T	ENST00000328078.1	+	1	918	c.841G>T	c.(841-843)Gaa>Taa	p.E281*		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	281					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CCATGGGATTGAAAACTTCAT	0.443																																																	0													137	111	120					X																	120182379		2203	4300	6503	SO:0001587	stop_gained	0			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"glutamate dehydrogenase pseudogene 1"	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.841G>T	X.37:g.120182379G>T	ENSP00000327589:p.Glu281*		B2R8G0|Q9UDQ4	Nonsense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.E281*	ENST00000328078.1	37	c.841	CCDS14603.1	X	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910986	0.92178	.	.	ENSG00000182890	ENST00000328078	.	.	.	2.4	1.45	0.22620	.	0.093642	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-17.8403	8.2651	0.31808	0.0:0.2438:0.7562:0.0	.	.	.	.	X	281	.	ENSP00000327589:E281X	E	+	1	0	GLUD2	120010060	1.000000	0.71417	0.735000	0.30896	0.842000	0.47809	6.619000	0.74219	0.255000	0.21593	0.472000	0.43445	GAA	GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C	ENSG00000182890		0.443	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	-	0	42	0	G	NM_012084		120182379	1	tier1	-	no_errors	ENST00000328078	ensembl	human	known	74_37	nonsense	13.51	32	5	SNP	1.000	T	T	120182379	G	T	120182379	4	4	107	1	0	0	0	0	0	1	0	0	6503	1291	45	3	843	3	GLUD2	23	120182379	Nonsense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09	64667771	120182379	35088181	122	29531											
GABRE	2564	genome.wustl.edu	37	chrX	151138169	151138169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatagagagaggaccaaggCtgttgacggagatctcaaca	14	6	14	7	1	1	4	1	1	1	3	2	8	1	6	1	4	1	2	1	4	3	2			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chrX:151138169C>A	ENST00000370328.3	-	3	367	c.314G>T	c.(313-315)aGc>aTc	p.S105I	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Missense_Mutation_p.S105I	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	105					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGACCAAGGCTGTTGACGGA	0.517																																																	0													99	82	88					X																	151138169		2203	4300	6503	SO:0001583	missense	0			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4085	protein-coding gene	gene with protein product	"GABA(A) receptor, epsilon"	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.314G>T	X.37:g.151138169C>A	ENSP00000359353:p.Ser105Ile		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S105I	ENST00000370328.3	37	c.314	CCDS14703.1	X	.	.	.	.	.	.	.	.	.	.	c	13.24	2.177209	0.38413	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.80738	-1.41;-1.41	5.28	3.51	0.40186	Neurotransmitter-gated ion-channel ligand-binding (3);	0.208429	0.33346	N	0.005013	D	0.83714	0.5314	M	0.85542	2.76	0.80722	D	1	D	0.54772	0.968	P	0.50314	0.637	T	0.82497	-0.0428	10	0.87932	D	0	.	6.0439	0.19750	0.0:0.624:0.2571:0.1189	.	105	P78334	GBRE_HUMAN	I	105	ENSP00000359353:S105I;ENSP00000359350:S105I	ENSP00000359350:S105I	S	-	2	0	GABRE	150888825	1.000000	0.71417	0.103000	0.21229	0.103000	0.19146	2.998000	0.49465	0.538000	0.28769	0.597000	0.82753	AGC	GABRE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000102287		0.517	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	-	0	34	0	C	NM_004961, NM_021990, NM_021984		151138169	-1	tier1	-	no_errors	ENST00000370328	ensembl	human	known	74_37	missense	84.62	4	22	SNP	1.000	A	A	151138169	C	A	151138169	3	1	107	1	0	0	0	0	1	0	0	0	6194	797	28	3	1234	3	GABRE	23	151138169	Missense_Mutation	SNP	C	TCGA-LN-A49V-01A-11D-A247-09	30955790	151138169	4132391	123	29532											
DDX3Y	8653	genome.wustl.edu	37	chrY	15029443	15029443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggttacggcaacagcagagGatttggtggaggtaatgtta	11	11	15	4	1	0	1	0	0	0	1	0	3	0	3	0	6	3	5	0	6	4	4			TCGA-LN-A49V-01A-11D-A247-09	TCGA-LN-A49V-10A-01D-A247-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	334db6d4-d008-4e0f-8307-4bb31e042d20	58bf59e3-00d3-405a-bfc9-902bcb778779	g.chrY:15029443G>T	ENST00000336079.3	+	16	1998	c.1892G>T	c.(1891-1893)gGa>gTa	p.G631V	DDX3Y_ENST00000360160.4_Missense_Mutation_p.G631V	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	631						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						AACAGCAGAGGATTTGGTGGA	0.453																																																	0																																										SO:0001583	missense	0			AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"DEAD-boxes"	2699	protein-coding gene	gene with protein product		400010	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.1892G>T	Y.37:g.15029443G>T	ENSP00000336725:p.Gly631Val		B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G631V	ENST00000336079.3	37	c.1892	CCDS14782.1	Y																																																																																			DDX3Y	-	NULL	ENSG00000067048		0.453	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3Y	HGNC	protein_coding	OTTHUMT00000088407.1	-	0	48	0	G	NM_004660		15029443	1	tier1	-	no_errors	ENST00000336079	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	T	T	15029443	G	T	15029443	3	4	107	1	0	0	0	0	1	0	0	0	4368	1174	41	3	1954	3	DDX3Y	24	15029443	Missense_Mutation	SNP	G	TCGA-LN-A49V-01A-11D-A247-09		15029443	44344123	124	29533											
PRAMEF10	343071	genome.wustl.edu	37	chr1	12954510	12954510	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaatggagagtccaagTcaggaatgcacggccactgg	13	5	15	8	1	1	2	1	0	0	2	2	5	2	4	2	5	1	1	2	5	3	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:12954510T>A	ENST00000235347.4	-	3	852	c.773A>T	c.(772-774)gAc>gTc	p.D258V		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	258					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGTCCAAGTCAGGAATGCA	0.483																																																	0													237	168	190					1																	12954510		1964	4124	6088	SO:0001583	missense	0			AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"-"	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.773A>T	1.37:g.12954510T>A	ENSP00000235347:p.Asp258Val		Q2M1V2	Missense_Mutation	SNP	NULL	p.D258V	ENST00000235347.4	37	c.773	CCDS41255.1	1	.	.	.	.	.	.	.	.	.	.	.	8.165	0.790297	0.16258	.	.	ENSG00000187545	ENST00000235347	T	0.17854	2.25	1.57	1.57	0.23409	.	0.924004	0.09187	N	0.836646	T	0.09202	0.0227	N	0.22421	0.69	0.09310	N	1	P	0.44044	0.825	B	0.34093	0.175	T	0.23226	-1.0194	10	0.62326	D	0.03	.	5.2552	0.15544	0.0:0.0:0.0:1.0	.	258	O60809	PRA10_HUMAN	V	258	ENSP00000235347:D258V	ENSP00000235347:D258V	D	-	2	0	PRAMEF10	12877097	0.001000	0.12720	0.001000	0.08648	0.163000	0.22366	1.199000	0.32235	0.969000	0.38237	0.163000	0.16589	GAC	PRAMEF10	-	NULL	ENSG00000187545		0.483	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	HGNC	protein_coding	OTTHUMT00000005512.2	-	0	123	0	T	XM_496342		12954510	-1	tier1	-	no_errors	ENST00000235347	ensembl	human	known	74_37	missense	11.63	152	20	SNP	0.001	A	A	12954510	T	A	12954510	3	1	108	1	0	0	0	0	1	0	0	0	12468	1667	58	5	659	5	PRAMEF10	1	12954510	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09		12954510	236296111	1	29534											
RBBP4	5928	genome.wustl.edu	37	chr1	33138069	33138069	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcagtggtcacctcacAatgagactattttagcttcc	10	13	8	10	0	3	1	3	1	0	1	4	2	4	1	2	2	1	2	2	2	3	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:33138069A>T	ENST00000373493.5	+	9	1144	c.985A>T	c.(985-987)Aat>Tat	p.N329Y	RBBP4_ENST00000544435.1_Missense_Mutation_p.N77Y|RBBP4_ENST00000414241.3_Missense_Mutation_p.N328Y|RBBP4_ENST00000458695.2_Missense_Mutation_p.N294Y|RBBP4_ENST00000373485.1_Missense_Mutation_p.N329Y	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	329					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GTCACCTCACAATGAGACTAT	0.333																																																	0													88	82	84					1																	33138069		2203	4299	6502	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.985A>T	1.37:g.33138069A>T	ENSP00000362592:p.Asn329Tyr		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N329Y	ENST00000373493.5	37	c.985	CCDS366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.65|16.65	3.182100|3.182100	0.57800|0.57800	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000475321	T;T;T;T;T;T|.	0.66815|.	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23|.	4.69|4.69	4.69|4.69	0.59074|0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73187|0.73187	0.3555|0.3555	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	B;B|.	0.26577|.	0.153;0.047|.	B;B|.	0.25884|.	0.061;0.064|.	T|T	0.74450|0.74450	-0.3661|-0.3661	10|5	0.48119|.	T|.	0.1|.	.|.	13.6412|13.6412	0.62253|0.62253	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	328;329|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	Y|L	328;329;77;329;294;67|131	ENSP00000398242:N328Y;ENSP00000362592:N329Y;ENSP00000442384:N77Y;ENSP00000362584:N329Y;ENSP00000396057:N294Y;ENSP00000436565:N67Y|.	ENSP00000362584:N329Y|.	N|Q	+|+	1|2	0|0	RBBP4|RBBP4	32910656|32910656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.215000|9.215000	0.95146|0.95146	1.895000|1.895000	0.54865|0.54865	0.383000|0.383000	0.25322|0.25322	AAT|CAA	RBBP4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000162521		0.333	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	HGNC	protein_coding	OTTHUMT00000021957.3	-	0	60	0	A	NM_005610		33138069	1	tier1	-	no_errors	ENST00000373493	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	T	T	33138069	A	T	33138069	3	4	108	1	0	0	0	0	1	0	0	0	13146	130	5	5	1019	5	RBBP4	1	33138069	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	20183559	33138069	216112552	2	29535											
PTPRF	5792	genome.wustl.edu	37	chr1	44063676	44063676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgggcacacacagacgtgGgccccggccccgagagcagc	8	2	15	16	4	0	2	0	0	0	2	0	3	0	2	4	3	3	2	4	3	0	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:44063676G>C	ENST00000359947.4	+	12	2411	c.2071G>C	c.(2071-2073)Ggc>Cgc	p.G691R	PTPRF_ENST00000422171.2_Intron|PTPRF_ENST00000372413.3_Missense_Mutation_p.G691R|PTPRF_ENST00000372414.3_Missense_Mutation_p.G691R|PTPRF_ENST00000438120.1_Missense_Mutation_p.G691R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	691	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAGACGTGGGCCCCGGCCC	0.697																																																	0													26	28	27					1																	44063676		2095	4124	6219	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2071G>C	1.37:g.44063676G>C	ENSP00000353030:p.Gly691Arg		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.G691R	ENST00000359947.4	37	c.2071	CCDS489.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.180844|4.180844	0.78677|0.78677	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413|ENST00000429895	T;T;T;T|.	0.68765|.	-0.35;-0.11;-0.35;-0.11|.	3.36|3.36	3.36|3.36	0.38483|0.38483	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	D|D	0.88713|0.88713	0.6511|0.6511	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	B;D;D;D|.	0.89917|.	0.283;1.0;1.0;0.996|.	P;D;D;D|.	0.97110|.	0.529;1.0;0.999;0.984|.	D|D	0.93459|0.93459	0.6809|0.6809	9|5	0.59425|.	D|.	0.04|.	.|.	15.0753|15.0753	0.72071|0.72071	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	347;450;691;691|.	Q59FI2;Q5W9G3;P10586-2;P10586|.	.;.;.;PTPRF_HUMAN|.	R|C	691|347	ENSP00000353030:G691R;ENSP00000398822:G691R;ENSP00000361491:G691R;ENSP00000361490:G691R|.	ENSP00000353030:G691R|.	G|W	+|+	1|3	0|0	PTPRF|PTPRF	43836263|43836263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.828000|0.828000	0.46876|0.46876	9.399000|9.399000	0.97285|0.97285	1.613000|1.613000	0.50231|0.50231	0.313000|0.313000	0.20887|0.20887	GGC|TGG	PTPRF	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142949		0.697	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	-	0	50	0	G			44063676	1	tier1	-	no_errors	ENST00000359947	ensembl	human	known	74_37	missense	38.46	40	25	SNP	1.000	C	C	44063676	G	C	44063676	3	2	108	1	0	0	0	0	1	0	0	0	12846	1232	43	5	2109	5	PTPRF	1	44063676	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	10925607	44063676	205186945	3	29536											
OSBPL9	114883	genome.wustl.edu	37	chr1	52253066	52253066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacttaaaaatcagagacaTtgatgcagcaactgaagcaa	19	7	7	8	0	1	3	1	2	0	1	1	4	1	3	0	0	5	3	0	0	7	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:52253066T>C	ENST00000428468.1	+	23	2044	c.2042T>C	c.(2041-2043)aTt>aCt	p.I681T	OSBPL9_ENST00000337809.4_Missense_Mutation_p.I686T|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I699T|NRD1_ENST00000485608.1_5'Flank|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I600T|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I516T|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I668T|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I691T|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I503T|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I503T|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I664T|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I571T|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I516T			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	681					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCAGAGACATTGATGCAGCA	0.448																																																	0													122	119	120					1																	52253066		2203	4300	6503	SO:0001583	missense	0			AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.2042T>C	1.37:g.52253066T>C	ENSP00000407168:p.Ile681Thr		B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I699T	ENST00000428468.1	37	c.2096	CCDS41332.3	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253088	0.80135	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D	0.67145	0.968;0.986;0.976;0.989;0.996	D;D;D;D;D	0.70487	0.969;0.939;0.932;0.964;0.953	T	0.63834	-0.6547	10	0.87932	D	0	-10.4803	15.545	0.76090	0.0:0.0:0.0:1.0	.	664;571;697;681;686	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	T	668;699;686;691;516;681;664;600;516;571;503;503	ENSP00000360779:I668T;ENSP00000360775:I699T;ENSP00000337265:I686T;ENSP00000412733:I691T;ENSP00000402646:I516T;ENSP00000407168:I681T;ENSP00000413263:I664T;ENSP00000433675:I600T;ENSP00000433083:I516T;ENSP00000354970:I571T;ENSP00000433279:I503T;ENSP00000431980:I503T	ENSP00000337265:I686T	I	+	2	0	OSBPL9	52025654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.321000	0.79088	2.266000	0.75297	0.529000	0.55759	ATT	OSBPL9	-	pfam_Oxysterol-bd	ENSG00000117859		0.448	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL9	HGNC	protein_coding	OTTHUMT00000022584.4	-	0	31	0	T			52253066	1	tier1	-	no_errors	ENST00000371710	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	C	C	52253066	T	C	52253066	3	2	108	1	0	0	0	0	1	0	0	0	11323	1493	52	4	2236	4	OSBPL9	1	52253066	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	8189390	52253066	196997555	4	29537											
DPYD	1806	genome.wustl.edu	37	chr1	97658623	97658623	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaggagatttaagcacatAccttgtccatgagttcagct	12	11	8	10	0	1	2	1	1	0	1	2	3	2	2	2	1	3	3	2	1	2	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:97658623A>C	ENST00000370192.3	-	20	2723		c.e20+1		DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase						beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTAAGCACATACCTTGTCCAT	0.418																																																	0													184	160	168					1																	97658623		2203	4300	6503	SO:0001630	splice_region_variant	0			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2622+1T>G	1.37:g.97658623A>C			A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Splice_Site	SNP	-	e20+2	ENST00000370192.3	37	c.2622+2	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133356	0.21041	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1671	0.81777	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPYD	97431211	1.000000	0.71417	0.999000	0.59377	0.062000	0.15995	7.783000	0.85696	2.224000	0.72417	0.528000	0.53228	.	DPYD	-	-	ENSG00000188641		0.418	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	-	0	66	0	A	NM_000110	Intron	97658623	-1	tier1	-	no_errors	ENST00000370192	ensembl	human	known	74_37	splice_site	11.25	71	9	SNP	1.000	C	C	97658623	A	C	97658623	5	2	108	1	0	0	0	0	0	0	1	0	4759	405	14	4	469	4	DPYD	1	97658623	Splice_Site	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	45405557	97658623	151591998	5	29538											
NOTCH2	4853	genome.wustl.edu	37	chr1	120512369	120512369	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctgtgcagaactgtccTtttagggggaaattactttt	8	16	9	8	0	1	1	0	0	1	1	3	2	3	2	2	2	3	1	2	2	4	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:120512369T>A	ENST00000256646.2	-	6	1094		c.e6-2			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAACTGTCCTTTTAGGGGGA	0.502			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													70	62	65					1																	120512369		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.875-2A>T	1.37:g.120512369T>A			Q5T3X7|Q99734|Q9H240	Splice_Site	SNP	-	e6-2	ENST00000256646.2	37	c.875-2	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.621203	0.87460	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1985	0.73116	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120313892	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	7.552000	0.82192	2.186000	0.69663	0.533000	0.62120	.	NOTCH2	-	-	ENSG00000134250		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0	32	0	T	NM_024408	Intron	120512369	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	splice_site	9.35	97	10	SNP	1.000	A	A	120512369	T	A	120512369	5	1	108	1	0	0	0	0	0	0	1	0	10587	1623	56	5	6658	5	NOTCH2	1	120512369	Splice_Site	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	22853746	120512369	128738252	6	29539											
HRNR	388697	genome.wustl.edu	37	chr1	152187118	152187118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgagccagacccatgtcgGccactgctggaagaccaacc	10	5	10	16	1	0	3	0	1	0	2	1	4	0	4	6	2	3	1	6	2	2	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:152187118G>A	ENST00000368801.2	-	3	7062	c.6987C>T	c.(6985-6987)ggC>ggT	p.G2329G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2329					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCATGTCGGCCACTGCTGG	0.602																																																	0													19	29	26					1																	152187118		1437	3146	4583	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"EF-hand domain containing"	20846	protein-coding gene	gene with protein product	"filaggrin family member 3"						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6987C>T	1.37:g.152187118G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G2329	ENST00000368801.2	37	c.6987	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0	50	0	G	XM_373868		152187118	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	17.33	62	13	SNP	0.000	A	A	152187118	G	A	152187118	2	1	108	1	0	0	0	0	0	0	0	1	7386	1190	42	3		3	HRNR	1	152187118	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	31674749	152187118	97063503	7	29540											
TADA1	117143	genome.wustl.edu	37	chr1	166833122	166833123	+	Frame_Shift_Del	DEL	GC	GC	-																															tgggttttccaggttttgctGcggaaccccctggccaaggc																								rs373239463		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:166833122_166833123delGC	ENST00000367874.4	-	4	361_362	c.268_269delGC	c.(268-270)gcafs	p.A91fs	TADA1_ENST00000467021.1_5'Flank	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	91					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AGGTTTTGCTGCGGAACCCCCT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.268_269delGC	1.37:g.166833122_166833123delGC	ENSP00000356848:p.Ala91fs		A8K4J9	Frame_Shift_Del	DEL	superfamily_Histone-fold	p.A90fs	ENST00000367874.4	37	c.269_268	CCDS1255.1	1																																																																																			TADA1	-	NULL	ENSG00000152382		0.381	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1		0	35	0	GC	NM_053053		166833123	-1	tier1		no_errors	ENST00000367874	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000:1.000	-	-	166833123	GC	-	166833122	7	5	108	1	0	1	0	1	0	0	0	0	15556	1319	46	0	758	0	TADA1	1	166833122	Frame_Shift_Del	DEL	GC	TCGA-LN-A49W-01A-11D-A27G-09	14646004	166833122	82417499	8	29541											
F5	2153	genome.wustl.edu	37	chr1	169497273	169497273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcagcaggtgtaaccTcacccactcttgctcataca	10	12	6	13	0	4	0	3	0	1	0	4	0	4	0	2	1	4	4	2	1	3	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:169497273T>C	ENST00000367797.3	-	17	5680	c.5479A>G	c.(5479-5481)Agg>Ggg	p.R1827G	F5_ENST00000367796.3_Missense_Mutation_p.R1832G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1827	F5/8 type A 3.|Plastocyanin-like 6.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGTGTAACCTCACCCACTCT	0.453																																																	0													97	94	95					1																	169497273		2203	4300	6503	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5479A>G	1.37:g.169497273T>C	ENSP00000356771:p.Arg1827Gly		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R1827G	ENST00000367797.3	37	c.5479	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752407	0.69533	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99812	-6.88;-6.88	4.96	3.75	0.43078	Cupredoxin (2);	0.411999	0.26931	N	0.021769	D	0.99563	0.9843	M	0.85630	2.765	0.32974	D	0.522727	D	0.58620	0.983	P	0.58130	0.833	D	0.98676	1.0690	9	0.59425	D	0.04	-18.5192	10.2695	0.43475	0.0:0.0:0.3881:0.6119	.	1827	P12259	FA5_HUMAN	G	1827;1832	ENSP00000356771:R1827G;ENSP00000356770:R1832G	ENSP00000356770:R1832G	R	-	1	2	F5	167763897	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	1.141000	0.31528	1.865000	0.54081	0.533000	0.62120	AGG	F5	-	superfamily_Cupredoxin	ENSG00000198734		0.453	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1		0	40	0	T	NM_000130		169497273	-1			no_errors	ENST00000367797	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	C	C	169497273	T	C	169497273	3	2	108	1	0	0	0	0	1	0	0	0	5364	1550	54	4	1231	4	F5	1	169497273	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	2664151	169497273	79753348	9	29542											
IVNS1ABP	10625	genome.wustl.edu	37	chr1	185267261	185267261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attcattgccatcgaatcctCccactgcataaatggtgttc	10	13	6	12	1	1	0	1	0	0	0	5	1	3	0	3	1	2	2	3	1	3	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:185267261C>A	ENST00000367498.3	-	15	2457	c.1835G>T	c.(1834-1836)gGa>gTa	p.G612V	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.G394V	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	612					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)		p.G612V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ATCGAATCCTCCCACTGCATA	0.393																																																	1	Substitution - Missense(1)	lung(1)											279	253	261					1																	185267261		2203	4300	6503	SO:0001583	missense	0			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"Kelch-like", "BTB/POZ domain containing"	16951	protein-coding gene	gene with protein product	"kelch-like family member 39"	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1835G>T	1.37:g.185267261C>A	ENSP00000356468:p.Gly612Val		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G612V	ENST00000367498.3	37	c.1835	CCDS1368.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482734	0.84747	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	D;D	0.98792	-5.14;-5.14	5.38	5.38	0.77491	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97810	1.0250	10	0.87932	D	0	.	19.5013	0.95095	0.0:1.0:0.0:0.0	.	394;612	A8MVR0;Q9Y6Y0	.;NS1BP_HUMAN	V	612;394	ENSP00000356468:G612V;ENSP00000375864:G394V	ENSP00000356468:G612V	G	-	2	0	IVNS1ABP	183533884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.677000	0.91161	0.563000	0.77884	GGA	IVNS1ABP	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000116679		0.393	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1		0	44	0	C	NM_006469		185267261	-1			no_errors	ENST00000367498	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	A	A	185267261	C	A	185267261	3	1	108	1	0	0	0	0	1	0	0	0	7957	855	30	3	97	3	IVNS1ABP	1	185267261	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	15769988	185267261	63983360	10	29543											
PRELP	5549	genome.wustl.edu	37	chr1	203453189	203453189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctttaatatctccaacCtgcttgtgctccacctgtcc	7	14	4	16	0	1	0	0	0	1	0	5	0	4	0	6	0	3	2	6	0	3	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:203453189C>A	ENST00000343110.2	+	2	1004	c.877C>A	c.(877-879)Ctg>Atg	p.L293M		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	293					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TATCTCCAACCTGCTTGTGCT	0.498																																																	0													56	59	58					1																	203453189		2203	4300	6503	SO:0001583	missense	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.877C>A	1.37:g.203453189C>A	ENSP00000343924:p.Leu293Met		Q6FG38	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L293M	ENST00000343110.2	37	c.877	CCDS1438.1	1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016943	0.54576	.	.	ENSG00000188783	ENST00000343110	T	0.31247	1.5	4.6	2.69	0.31865	.	0.000000	0.64402	D	0.000007	T	0.56834	0.2012	M	0.88570	2.965	0.47737	D	0.999509	D	0.76494	0.999	D	0.81914	0.995	T	0.58482	-0.7629	10	0.72032	D	0.01	-22.8615	8.9102	0.35548	0.0:0.811:0.0:0.189	.	293	P51888	PRELP_HUMAN	M	293	ENSP00000343924:L293M	ENSP00000343924:L293M	L	+	1	2	PRELP	201719812	0.973000	0.33851	1.000000	0.80357	0.939000	0.58152	0.218000	0.17622	0.374000	0.24650	0.462000	0.41574	CTG	PRELP	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000188783		0.498	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	HGNC	protein_coding	OTTHUMT00000087474.1	-	0	25	0	C	NM_002725		203453189	1	tier1	-	no_errors	ENST00000343110	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	A	A	203453189	C	A	203453189	3	1	108	1	0	0	0	0	1	0	0	0	12515	680	24	3	879	3	PRELP	1	203453189	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	18185928	203453189	45797432	11	29544											
CNTN2	6900	genome.wustl.edu	37	chr1	205042860	205042860	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttcccactccgtggcGatgctgatcctcataggctc	6	12	9	14	2	2	1	2	1	0	0	6	2	5	1	3	2	1	2	3	2	1	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:205042860G>T	ENST00000331830.4	+	23	3374	c.3090G>T	c.(3088-3090)gcG>gcT	p.A1030A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1030					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTCCGTGGCGATGCTGATCC	0.622																																					Melanoma(183;2548 2817 37099 41192)												0													123	95	104					1																	205042860		2203	4300	6503	SO:0001819	synonymous_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.3090G>T	1.37:g.205042860G>T			P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1030	ENST00000331830.4	37	c.3090	CCDS1449.1	1																																																																																			CNTN2	-	NULL	ENSG00000184144		0.622	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	-	0	28	0	G	NM_005076		205042860	1	tier1	-	no_errors	ENST00000331830	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.000	T	T	205042860	G	T	205042860	2	4	108	1	0	0	0	0	0	0	0	1	3648	1045	37	2		2	CNTN2	1	205042860	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	1589671	205042860	44207761	12	29545											
KCNH1	3756	genome.wustl.edu	37	chr1	211093142	211093142	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccacttccctgagccagaCccattaaactggtaaggggt	10	9	9	13	0	0	2	0	1	0	1	2	2	2	2	4	3	2	1	4	3	3	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:211093142C>G	ENST00000271751.4	-	7	1329	c.1302G>C	c.(1300-1302)ggG>ggC	p.G434G	KCNH1_ENST00000367007.4_Silent_p.G407G			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	434					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTGAGCCAGACCCATTAAACT	0.512																																																	0													184	168	173					1																	211093142		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1302G>C	1.37:g.211093142C>G			B1AQ26|O76035|Q14CL3	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.G434	ENST00000271751.4	37	c.1302	CCDS1496.1	1																																																																																			KCNH1	-	pfam_Ion_trans_dom	ENSG00000143473		0.512	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0	98	0	C	NM_002238		211093142	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	silent	13.33	65	10	SNP	0.990	G	G	211093142	C	G	211093142	2	3	108	1	0	0	0	0	0	0	0	1	8058	494	18	5		5	KCNH1	1	211093142	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	6050282	211093142	38157479	13	29546											
FMN2	56776	genome.wustl.edu	37	chr1	240255581	240255581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggggcggcggcggcGgcggggagtcgggcaagaag	6	1	27	7	6	0	1	0	0	0	1	1	3	0	3	0	11	0	1	0	11	2	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr1:240255581G>T	ENST00000319653.9	+	1	402	c.172G>T	c.(172-174)Ggc>Tgc	p.G58C		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	58					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			cggcggcggcggcggggAGTC	0.662																																																	0													4	6	5					1																	240255581		1987	3934	5921	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.172G>T	1.37:g.240255581G>T	ENSP00000318884:p.Gly58Cys		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G58C	ENST00000319653.9	37	c.172	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	3.339	-0.134963	0.06711	.	.	ENSG00000155816	ENST00000319653	T	0.27256	1.68	.	.	.	.	0.540373	0.16517	N	0.210966	T	0.25717	0.0626	L	0.40543	1.245	0.80722	D	1	.	.	.	.	.	.	T	0.04153	-1.0973	6	0.35671	T	0.21	.	.	.	.	.	58	Q9NZ56	FMN2_HUMAN	C	58	ENSP00000318884:G58C	ENSP00000318884:G58C	G	+	1	0	FMN2	238322204	0.836000	0.29430	0.983000	0.44433	0.933000	0.57130	-0.426000	0.07008	0.088000	0.17205	0.089000	0.15464	GGC	FMN2	-	NULL	ENSG00000155816		0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	22	0	G	XM_371352		240255581	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.962	T	T	240255581	G	T	240255581	3	4	108	1	0	0	0	0	1	0	0	0	5972	1116	39	2	174	2	FMN2	1	240255581	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	29162439	240255581	8995040	14	29547											
ITGB1BP1	9270	genome.wustl.edu	37	chr2	9548313	9548313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattcttcctccggaggaaCaaaaggcaactttccatctt	13	11	6	11	1	2	0	0	0	2	0	5	2	5	2	3	3	2	1	3	3	5	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:9548313C>A	ENST00000360635.3	-	6	1206	c.310G>T	c.(310-312)Gtt>Ttt	p.V104F	ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.V104F|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.V104F			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	104	PID.				activation of protein kinase B activity (GO:0032148)|biomineral tissue development (GO:0031214)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|myoblast migration (GO:0051451)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|Notch signaling pathway (GO:0007219)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)|receptor clustering (GO:0043113)|regulation of blood vessel size (GO:0050880)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of integrin-mediated signaling pathway (GO:2001044)|transcription, DNA-templated (GO:0006351)|tube formation (GO:0035148)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GDP-dissociation inhibitor activity (GO:0005092)|integrin binding (GO:0005178)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCCGGAGGAACAAAAGGCAAC	0.284																																																	0													39	45	43					2																	9548313		2200	4296	6496	SO:0001583	missense	0			AF012023	CCDS1662.1, CCDS1663.1	2p25.2	2008-02-05			ENSG00000119185	ENSG00000119185			23927	protein-coding gene	gene with protein product	"integrin cytoplasmic domain-associated protein 1", "integrin cytoplasmic domain-associated protein 1-beta", "integrin cytoplasmic domain-associated protein 1-alpha", "bodenin"	607153				11854171, 9281591	Standard	NM_004763		Approved	ICAP-1A, ICAP-1B, ICAP1, ICAP1A, ICAP1B, ICAP-1alpha	uc002qzj.3	O14713	OTTHUMG00000090414	ENST00000360635.3:c.310G>T	2.37:g.9548313C>A	ENSP00000353850:p.Val104Phe		D6W4Y9|O14714|Q53RS0	Missense_Mutation	SNP	pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom	p.V104F	ENST00000360635.3	37	c.310	CCDS1662.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.121138	0.94385	.	.	ENSG00000119185	ENST00000360635;ENST00000238091;ENST00000355346;ENST00000359712;ENST00000488451;ENST00000456913;ENST00000492079;ENST00000494563	.	.	.	5.87	5.87	0.94306	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.64875	0.2638	N	0.14661	0.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.996;0.998	T	0.69351	-0.5168	9	0.72032	D	0.01	-25.0723	20.5827	0.99408	0.0:1.0:0.0:0.0	.	60;104;104;104	B4DQY5;A8MPU2;O14713-2;O14713	.;.;.;ITBP1_HUMAN	F	104	.	ENSP00000238091:V104F	V	-	1	0	ITGB1BP1	9465764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.014000	0.70784	2.941000	0.99782	0.655000	0.94253	GTT	ITGB1BP1	-	pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom	ENSG00000119185		0.284	ITGB1BP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ITGB1BP1	HGNC	protein_coding	OTTHUMT00000314623.2	-	0	50	0	C	NM_004763, NM_022334		9548313	-1	tier1	-	no_errors	ENST00000355346	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A	A	9548313	C	A	9548313	3	1	108	1	0	0	0	0	1	0	0	0	7918	478	17	3	304	3	ITGB1BP1	2	9548313	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09		9548313	233651060	15	29548											
MYCN	4613	genome.wustl.edu	37	chr2	16085729	16085729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcaccatcactgtgcGtcccaagaacgcagccctgg	10	7	8	16	2	2	1	2	0	0	1	3	1	3	1	3	1	3	1	3	1	2	1	rs140581169		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:16085729G>A	ENST00000281043.3	+	3	1202	c.905G>A	c.(904-906)cGt>cAt	p.R302H		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	302					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			ATCACTGTGCGTCCCAAGAAC	0.587			A		neuroblastoma																																			Dom	yes		2	2p24.1	4613	"v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"		O	0								G	HIS/ARG	0,4406		0,0,2203	101	82	88		905	4.9	0.8	2	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	no	missense	MYCN	NM_005378.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	302/465	16085729	2,13004	2203	4300	6503	SO:0001583	missense	0			BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"Basic helix-loop-helix proteins"	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.905G>A	2.37:g.16085729G>A	ENSP00000281043:p.Arg302His		Q53XS5|Q6LDT9	Missense_Mutation	SNP	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.R302H	ENST00000281043.3	37	c.905	CCDS1687.1	2	.	.	.	.	.	.	.	.	.	.	G	7.411	0.634782	0.14322	0.0	2.33E-4	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.81163	-1.46	4.94	4.94	0.65067	Transcription regulator Myc, N-terminal (1);	1.323720	0.05292	U	0.521372	T	0.79287	0.4420	L	0.47190	1.495	0.49687	D	0.999813	P	0.51537	0.946	B	0.41571	0.36	T	0.70880	-0.4752	10	0.16420	T	0.52	-8.6368	18.5644	0.91112	0.0:0.0:1.0:0.0	.	302	P04198	MYCN_HUMAN	H	302;220	ENSP00000281043:R302H	ENSP00000281043:R302H	R	+	2	0	MYCN	16003180	1.000000	0.71417	0.838000	0.33150	0.409000	0.31022	5.127000	0.64727	2.477000	0.83638	0.655000	0.94253	CGT	MYCN	-	pfam_Tscrpt_reg_Myc_N	ENSG00000134323		0.587	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYCN	HGNC	protein_coding	OTTHUMT00000095469.2	-	0	59	0	G	NM_005378		16085729	1	tier1	rs140581169	no_errors	ENST00000281043	ensembl	human	known	74_37	missense	25.00	24	8	SNP	0.998	A	A	16085729	G	A	16085729	3	1	108	1	0	0	0	0	1	0	0	0	10059	1145	40	1	911	1	MYCN	2	16085729	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	6537416	16085729	227113644	16	29549											
AGBL5	60509	genome.wustl.edu	37	chr2	27280243	27280243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgcctgccatgacaatggGcgtgccagcccccctccccc	5	6	10	20	1	0	1	0	1	0	0	1	1	1	1	8	1	4	1	8	1	1	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:27280243G>A	ENST00000360131.4	+	9	1767	c.1608G>A	c.(1606-1608)ggG>ggA	p.G536G	AGBL5_ENST00000323064.8_Silent_p.G536G	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	536					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGACAATGGGCGTGCCAGCC	0.507																																																	0													90	85	87					2																	27280243		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 5"	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1608G>A	2.37:g.27280243G>A			A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	pfam_Peptidase_M14	p.G536	ENST00000360131.4	37	c.1608	CCDS1732.3	2																																																																																			AGBL5	-	NULL	ENSG00000084693		0.507	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	-	0	46	0	G	NM_021831		27280243	1	tier1	-	no_errors	ENST00000360131	ensembl	human	known	74_37	silent	18.92	30	7	SNP	1.000	A	A	27280243	G	A	27280243	2	1	108	1	0	0	0	0	0	0	0	1	378	1190	42	3		3	AGBL5	2	27280243	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	11194514	27280243	215919130	17	29550											
PRKD3	23683	genome.wustl.edu	37	chr2	37516571	37516571	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccgggtcctggtaaagaTacatttgacagacgtctctt	10	11	11	9	2	1	3	0	1	1	2	3	3	2	3	2	3	1	1	2	3	3	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:37516571T>C	ENST00000379066.1	-	5	1407	c.645A>G	c.(643-645)gtA>gtG	p.V215V	PRKD3_ENST00000234179.2_Silent_p.V215V			O94806	KPCD3_HUMAN	protein kinase D3	215					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGTAAAGATACATTTGACA	0.408																																					Melanoma(80;621 1355 8613 11814 51767)												0													110	105	107					2																	37516571		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.645A>G	2.37:g.37516571T>C			D6W587|Q53TR7|Q8NEL8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.V215	ENST00000379066.1	37	c.645	CCDS1789.1	2																																																																																			PRKD3	-	NULL	ENSG00000115825		0.408	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	-	0	70	0	T	NM_005813		37516571	-1	tier1	-	no_errors	ENST00000234179	ensembl	human	known	74_37	silent	16.33	41	8	SNP	0.620	C	C	37516571	T	C	37516571	2	2	108	1	0	0	0	0	0	0	0	1	12562	1393	49	4		4	PRKD3	2	37516571	Silent	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	10236328	37516571	205682802	18	29551											
NPAS2	4862	genome.wustl.edu	37	chr2	101565927	101565927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaatttgtaggaaattttCgctcttacaacaatggtaag	15	14	7	5	1	1	0	0	0	1	0	2	1	1	1	0	2	2	3	0	2	8	7			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:101565927C>T	ENST00000335681.5	+	7	868	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	NPAS2_ENST00000486017.1_3'UTR|NPAS2_ENST00000542504.1_Missense_Mutation_p.R260C	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	195					cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|circadian sleep/wake cycle (GO:0042745)|locomotor rhythm (GO:0045475)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of response to DNA damage stimulus (GO:2001020)|response to redox state (GO:0051775)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|Hsp90 protein binding (GO:0051879)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGAAATTTTCGCTCTTACAA	0.393																																																	0													67	67	67					2																	101565927		2203	4300	6503	SO:0001583	missense	0			U77970	CCDS2048.1	2q11.2	2013-05-21			ENSG00000170485	ENSG00000170485		"Basic helix-loop-helix proteins"	7895	protein-coding gene	gene with protein product		603347				9012850, 9079689	Standard	NM_002518		Approved	MOP4, PASD4, bHLHe9	uc002tap.1	Q99743	OTTHUMG00000130675	ENST00000335681.5:c.583C>T	2.37:g.101565927C>T	ENSP00000338283:p.Arg195Cys		Q4ZFV9|Q53SQ3|Q86V96|Q99629	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.R260C	ENST00000335681.5	37	c.778	CCDS2048.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.57|16.57	3.159280|3.159280	0.57368|0.57368	.|.	.|.	ENSG00000170485|ENSG00000170485	ENST00000335681;ENST00000542504|ENST00000448812	T;T|.	0.07908|.	3.17;3.15|.	5.04|5.04	4.16|4.16	0.48862|0.48862	.|.	0.135640|.	0.52532|.	D|.	0.000065|.	T|T	0.63379|0.63379	0.2506|0.2506	M|M	0.68952|0.68952	2.095|2.095	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.71870|.	0.975;0.943|.	T|T	0.62277|0.62277	-0.6888|-0.6888	10|5	0.87932|.	D|.	0|.	.|.	8.5403|8.5403	0.33388|0.33388	0.1541:0.7701:0.0:0.0758|0.1541:0.7701:0.0:0.0758	.|.	260;195|.	F5H027;Q99743|.	.;NPAS2_HUMAN|.	C|L	195;260|184	ENSP00000338283:R195C;ENSP00000438428:R260C|.	ENSP00000338283:R195C|.	R|S	+|+	1|2	0|0	NPAS2|NPAS2	100932359|100932359	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.186000|4.186000	0.58337|0.58337	1.341000|1.341000	0.45600|0.45600	0.655000|0.655000	0.94253|0.94253	CGC|TCG	NPAS2	-	NULL	ENSG00000170485		0.393	NPAS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NPAS2	HGNC	protein_coding	OTTHUMT00000253168.3	-	0	32	0	C			101565927	1	tier1	-	no_errors	ENST00000542504	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T	T	101565927	C	T	101565927	3	4	108	1	0	0	0	0	1	0	0	0	10602	884	31	1	605	1	NPAS2	2	101565927	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	64049356	101565927	141633446	19	29552											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125192188	125192188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggagatggggtcctgttCcatggagaaggtcagcgtgg	9	8	17	7	1	1	2	1	0	0	2	3	4	3	2	2	6	1	1	2	6	2	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:125192188C>A	ENST00000431078.1	+	5	1021	c.657C>A	c.(655-657)ttC>ttA	p.F219L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	219	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGTCCTGTTCCATGGAGAAG	0.502																																																	0													86	87	87					2																	125192188		2087	4228	6315	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.657C>A	2.37:g.125192188C>A	ENSP00000399013:p.Phe219Leu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.F219L	ENST00000431078.1	37	c.657	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	5.146	0.212472	0.09757	.	.	ENSG00000155052	ENST00000431078	T	0.69435	-0.4	5.48	1.65	0.23941	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.128694	0.34725	N	0.003721	T	0.28962	0.0719	N	0.01091	-1.02	0.42024	D	0.990996	B	0.18968	0.032	B	0.22152	0.038	T	0.35500	-0.9786	10	0.02654	T	1	.	8.9488	0.35776	0.0:0.642:0.0:0.358	.	219	Q8WYK1	CNTP5_HUMAN	L	219	ENSP00000399013:F219L	ENSP00000399013:F219L	F	+	3	2	CNTNAP5	124908658	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	1.220000	0.32491	0.023000	0.15187	0.655000	0.94253	TTC	CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000155052		0.502	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	39	0	C			125192188	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	19.35	25	6	SNP	1.000	A	A	125192188	C	A	125192188	3	1	108	1	0	0	0	0	1	0	0	0	3657	854	30	3	675	3	CNTNAP5	2	125192188	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	23626261	125192188	118007185	20	29553											
FAM123C	205147	genome.wustl.edu	37	chr2	131520725	131520725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcagggaccctcgcagCggctccaaagccagctccat	8	5	10	18	2	0	0	0	0	0	0	3	1	2	1	5	2	4	4	5	2	1	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:131520725C>T	ENST00000423981.1	+	2	1190	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	AMER3_ENST00000321420.4_Silent_p.S360S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	360					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACCCTCGCAGCGGCTCCAAAG	0.652																																																	0													40	38	39					2																	131520725		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"-"	26771	protein-coding gene	gene with protein product			"family with sequence similarity 123C"	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1080C>T	2.37:g.131520725C>T			B7ZLH6	Silent	SNP	pfam_Uncharacterised_FAM123	p.S360	ENST00000423981.1	37	c.1080	CCDS2164.1	2																																																																																			AMER3	-	pfam_Uncharacterised_FAM123	ENSG00000178171		0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3		0	30	0	C	NM_152698		131520725	1			no_errors	ENST00000321420	ensembl	human	known	74_37	silent	13.04	20	3	SNP	0.043	T	T	131520725	C	T	131520725	2	4	108	1	0	0	0	0	0	0	0	1	5443	767	27	1		1	FAM123C	2	131520725	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	6328537	131520725	111678648	21	29554											
NCKAP5	344148	genome.wustl.edu	37	chr2	133541313	133541313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggtgaaggagctggaggggGcatgagcagggcatcgggtt	8	6	21	6	2	0	2	0	2	0	0	1	4	0	4	0	7	2	5	0	7	1	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:133541313G>A	ENST00000409261.1	-	14	3444	c.3071C>T	c.(3070-3072)gCc>gTc	p.A1024V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1024V|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1024										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGAGGGGGCATGAGCAGG	0.562																																																	0													35	38	37					2																	133541313		1937	4132	6069	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3071C>T	2.37:g.133541313G>A	ENSP00000387128:p.Ala1024Val		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.A1024V	ENST00000409261.1	37	c.3071	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	G	1.532	-0.544161	0.04024	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09911	2.93;2.93	5.25	-1.63	0.08345	.	4.360500	0.01233	U	0.008417	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.15870	0.014	T	0.28522	-1.0041	10	0.25106	T	0.35	.	1.7967	0.03062	0.2822:0.3738:0.2119:0.1321	.	1024	O14513	NCKP5_HUMAN	V	1024	ENSP00000387128:A1024V;ENSP00000380603:A1024V	ENSP00000380603:A1024V	A	-	2	0	NCKAP5	133257783	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	0.008000	0.13197	-0.161000	0.10983	0.655000	0.94253	GCC	NCKAP5	-	NULL	ENSG00000176771		0.562	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1		0	33	0	G	NM_207481		133541313	-1			no_errors	ENST00000317721	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.000	A	A	133541313	G	A	133541313	3	1	108	1	0	0	0	0	1	0	0	0	10262	1203	42	3	2686	3	NCKAP5	2	133541313	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	2020588	133541313	109658060	22	29555											
LCT	3938	genome.wustl.edu	37	chr2	136566569	136566569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcgagatgacccccttCtgctcctgcctgtatttctc	5	13	7	16	1	3	2	1	1	2	1	5	3	4	2	4	0	3	2	4	0	1	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:136566569C>T	ENST00000264162.2	-	8	3358	c.3348G>A	c.(3346-3348)caG>caA	p.Q1116Q	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1116	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGACCCCCTTCTGCTCCTGCC	0.572																																																	0													73	77	76					2																	136566569		2203	4300	6503	SO:0001819	synonymous_variant	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3348G>A	2.37:g.136566569C>T			Q4ZG58	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.Q1116	ENST00000264162.2	37	c.3348	CCDS2178.1	2																																																																																			LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.572	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	53	0	C	NM_002299		136566569	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	silent	21.43	22	6	SNP	0.999	T	T	136566569	C	T	136566569	2	4	108	1	0	0	0	0	0	0	0	1	8721	912	32	3		3	LCT	2	136566569	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	3025256	136566569	106632804	23	29556											
ITGB6	3694	genome.wustl.edu	37	chr2	161030646	161030646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtaaacagaagtatggaaTactactgcaaaagtaagatg	19	8	10	4	0	0	2	0	0	0	2	0	3	0	3	0	2	4	4	0	2	10	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:161030646T>C	ENST00000283249.2	-	5	835	c.598A>G	c.(598-600)Att>Gtt	p.I200V	ITGB6_ENST00000409872.1_Missense_Mutation_p.I200V|ITGB6_ENST00000409967.2_Missense_Mutation_p.I200V|ITGB6_ENST00000428609.2_Missense_Mutation_p.I158V|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	200	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AAGTATGGAATACTACTGCAA	0.318																																																	0													49	43	45					2																	161030646		2203	4300	6503	SO:0001583	missense	0				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"Integrins"	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.598A>G	2.37:g.161030646T>C	ENSP00000283249:p.Ile200Val		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.I200V	ENST00000283249.2	37	c.598	CCDS2212.1	2	.	.	.	.	.	.	.	.	.	.	T	5.957	0.360543	0.11296	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	5.3	2.64	0.31445	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.237175	0.41712	D	0.000830	D	0.88669	0.6499	N	0.03983	-0.305	0.31695	N	0.64146	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	D	0.83654	0.0157	10	0.20046	T	0.44	.	7.742	0.28848	0.0:0.2625:0.0:0.7375	.	158;200	E9PEE8;P18564	.;ITB6_HUMAN	V	200;158;200;200	ENSP00000283249:I200V;ENSP00000408024:I158V;ENSP00000386828:I200V;ENSP00000386367:I200V	ENSP00000283249:I200V	I	-	1	0	ITGB6	160738892	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	1.017000	0.29989	0.966000	0.38159	0.402000	0.26972	ATT	ITGB6	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000115221		0.318	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	-	0	27	0	T	NM_000888		161030646	-1	tier1	-	no_errors	ENST00000283249	ensembl	human	known	74_37	missense	22.50	31	9	SNP	1.000	C	C	161030646	T	C	161030646	3	2	108	1	0	0	0	0	1	0	0	0	7926	1406	49	4	1812	4	ITGB6	2	161030646	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	24464077	161030646	82168727	24	29557											
XIRP2	129446	genome.wustl.edu	37	chr2	168097247	168097247	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaatatgttcaagaaactgGtaagagtctggtattattgg	13	14	10	4	0	3	2	2	0	1	2	3	2	3	2	0	3	1	3	0	3	7	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:168097247G>T	ENST00000409728.1	+	8	1230		c.e8+1		XIRP2_ENST00000409195.1_Splice_Site|XIRP2_ENST00000295237.9_Splice_Site|XIRP2_ENST00000409273.1_Splice_Site|XIRP2_ENST00000409756.2_Splice_Site|XIRP2_ENST00000420519.1_Splice_Site|XIRP2_ENST00000409043.1_Splice_Site|XIRP2_ENST00000409605.1_Splice_Site	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2						actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.?(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAGAAACTGGTAAGAGTCTG	0.373																																																	2	Unknown(2)	lung(2)											110	105	107					2																	168097247		1855	4084	5939	SO:0001630	splice_region_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1141+1G>T	2.37:g.168097247G>T			A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Splice_Site	SNP	-	e6+1	ENST00000409728.1	37	c.1042+1	CCDS56143.1	2	.	.	.	.	.	.	.	.	.	.	G	17.45	3.393847	0.62066	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2687	0.87095	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	XIRP2	167805493	1.000000	0.71417	0.998000	0.56505	0.635000	0.38103	5.721000	0.68477	2.756000	0.94617	0.655000	0.94253	.	XIRP2	-	-	ENSG00000163092		0.373	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1		0	87	0	G	NM_152381	Intron	168097247	1			no_errors	ENST00000295237	ensembl	human	known	74_37	splice_site	5.66	50	3	SNP	1.000	T	T	168097247	G	T	168097247	5	4	108	1	0	0	0	0	0	0	1	0	17479	1275	44	3	1065	3	XIRP2	2	168097247	Splice_Site	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	7066601	168097247	75102126	25	29558											
SCRN3	79634	genome.wustl.edu	37	chr2	175263171	175263171	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgggagaacgtcttaagGtaggtgaaataaatgttttg	13	12	12	4	1	1	2	0	1	1	1	1	3	1	2	1	3	1	2	1	3	6	5	rs147792046	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:175263171G>T	ENST00000272732.6	+	2	241		c.e2+1		SCRN3_ENST00000409673.3_Splice_Site|CIR1_ENST00000342016.3_5'Flank|CIR1_ENST00000362053.5_5'Flank	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3								dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ACGTCTTAAGGTAGGTGAAAT	0.299																																																	0								G	,	1,4405		0,1,2202	126	133	131		,	5	1	2	dbSNP_134	131	6,8594	3.7+/-12.6	0,6,4294	yes	splice-5,splice-5	SCRN3	NM_001193528.1,NM_024583.4	,	0,7,6496	TT,TG,GG		0.0698,0.0227,0.0538	,	,	175263171	7,12999	2203	4300	6503	SO:0001630	splice_region_variant	0			AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.159+1G>T	2.37:g.175263171G>T			B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Splice_Site	SNP	-	e1+1	ENST00000272732.6	37	c.159+1	CCDS2258.1	2	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637680	0.67130	2.27E-4	6.98E-4	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000424069;ENST00000427038;ENST00000548031	.	.	.	5.91	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9269	0.35646	0.0747:0.0:0.7749:0.1504	.	.	.	.	.	-1	.	.	.	+	.	.	SCRN3	174971417	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	4.238000	0.58688	1.496000	0.48567	0.643000	0.83706	.	SCRN3	-	-	ENSG00000144306		0.299	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN3	HGNC	protein_coding	OTTHUMT00000255451.2	-	0	60	0	G	NM_024583	Intron	175263171	1	tier1	rs147792046	no_errors	ENST00000272732	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	T	T	175263171	G	T	175263171	5	4	108	1	0	0	0	0	0	0	1	0	13985	1275	44	3	162	3	SCRN3	2	175263171	Splice_Site	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	7165924	175263171	67936202	26	29559											
TTN	7273	genome.wustl.edu	37	chr2	179554284	179554284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgagttacaatggttaTtttttcttctgtcacaactc	8	20	5	8	0	4	1	1	1	3	0	5	1	4	1	0	1	2	2	0	1	4	7			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:179554284T>C	ENST00000591111.1	-	121	31158	c.30934A>G	c.(30934-30936)Ata>Gta	p.I10312V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I9385V|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I10629V			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAATGGTTATTTTTTCTTCT	0.358																																																	0													264	262	263					2																	179554284		1879	4119	5998	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30934A>G	2.37:g.179554284T>C	ENSP00000465570:p.Ile10312Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I9385V	ENST00000591111.1	37	c.28153		2	.	.	.	.	.	.	.	.	.	.	T	2.202	-0.382852	0.04966	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.61392	0.11;0.11	5.13	-1.26	0.09376	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.30823	0.0777	N	0.05078	-0.115	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.03993	-1.0986	9	0.87932	D	0	.	6.5288	0.22316	0.1452:0.4868:0.0:0.3679	.	10312;10312	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	V	9385;507	ENSP00000343764:I9385V;ENSP00000401501:I507V	ENSP00000343764:I9385V	I	-	1	0	TTN	179262529	0.236000	0.23804	0.856000	0.33681	0.998000	0.95712	-0.336000	0.07863	-0.149000	0.11215	0.533000	0.62120	ATA	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	35	0	T	NM_133378		179554284	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.902	C	C	179554284	T	C	179554284	3	2	108	1	0	0	0	0	1	0	0	0	16784	1493	52	4	72604	4	TTN	2	179554284	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	4291113	179554284	63645089	27	29560											
NOP58	51602	genome.wustl.edu	37	chr2	203152394	203152394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcccagcctgtctcgatAtagattgaagtttagcgctg	8	14	9	10	2	2	2	0	1	2	1	4	3	3	2	2	0	2	2	2	0	4	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:203152394A>G	ENST00000264279.5	+	6	672	c.446A>G	c.(445-447)tAt>tGt	p.Y149C		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	149					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CTGTCTCGATATAGATTGAAG	0.338																																																	0													165	161	163					2																	203152394		2203	4300	6503	SO:0001583	missense	0				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"NOP58 ribonucleoprotein homolog (yeast)"			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.446A>G	2.37:g.203152394A>G	ENSP00000264279:p.Tyr149Cys		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.Y149C	ENST00000264279.5	37	c.446	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.349885	0.82132	.	.	ENSG00000055044	ENST00000264279	T	0.61859	0.07	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.78786	0.4338	M	0.89534	3.04	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.83164	-0.0097	10	0.56958	D	0.05	-21.3241	15.8185	0.78624	1.0:0.0:0.0:0.0	.	149	Q9Y2X3	NOP58_HUMAN	C	149	ENSP00000264279:Y149C	ENSP00000264279:Y149C	Y	+	2	0	NOP58	202860639	1.000000	0.71417	0.955000	0.39395	0.964000	0.63967	9.067000	0.93955	2.200000	0.70718	0.482000	0.46254	TAT	NOP58	-	NULL	ENSG00000055044		0.338	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	-	0	95	0	A	NM_015934		203152394	1	tier1	-	no_errors	ENST00000264279	ensembl	human	known	74_37	missense	36.84	48	28	SNP	1.000	G	G	203152394	A	G	203152394	3	3	108	1	0	0	0	0	1	0	0	0	10579	449	16	4	468	4	NOP58	2	203152394	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	23598110	203152394	40046979	28	29561											
HDAC4	9759	genome.wustl.edu	37	chr2	240036937	240036937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagagcctggtgctcacGgagctcctcctccgtctcct	5	9	10	17	2	2	1	1	0	1	1	6	2	5	2	5	2	4	3	5	2	0	0	rs202206567		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr2:240036937G>A	ENST00000345617.3	-	13	2379	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	HDAC4_ENST00000541256.1_Missense_Mutation_p.R504C|HDAC4_ENST00000543185.1_Missense_Mutation_p.R114C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	530					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGGTGCTCACGGAGCTCCTCC	0.677																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	43	50	48		1588	5.1	0.6	2		48	0,8600		0,0,4300	no	missense	HDAC4	NM_006037.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	530/1085	240036937	1,13005	2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"brachydactyly-mental retardation syndrome"	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1588C>T	2.37:g.240036937G>A	ENSP00000264606:p.Arg530Cys		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.R530C	ENST00000345617.3	37	c.1588	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316157	0.81469	2.27E-4	0.0	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65178	4.26;-0.14;4.26	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.78966	0.4367	M	0.72479	2.2	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.976;0.99;0.999;0.997;0.991;0.983	T	0.78732	-0.2089	9	.	.	.	.	18.9026	0.92449	0.0:0.0:1.0:0.0	.	530;413;504;504;498;530	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	C	530;418;114;504;413	ENSP00000264606:R530C;ENSP00000440481:R114C;ENSP00000443057:R504C	.	R	-	1	0	HDAC4	239701874	0.994000	0.37717	0.596000	0.28811	0.899000	0.52679	3.595000	0.54016	2.538000	0.85594	0.655000	0.94253	CGT	HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.677	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2		0	39	0	G	NM_006037		240036937	-1			no_errors	ENST00000345617	ensembl	human	known	74_37	missense	12.90	27	4	SNP	0.966	A	A	240036937	G	A	240036937	3	1	108	1	0	0	0	0	1	0	0	0	7036	1116	39	1	1726	1	HDAC4	2	240036937	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	36884543	240036937	3162436	29	29562											
SETD2	29072	genome.wustl.edu	37	chr3	47165570	47165570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaggcggagatgagggcgGtgagtctacagttgttgatt	8	11	18	4	2	1	4	0	3	1	1	1	6	1	5	0	5	1	2	0	5	1	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:47165570G>T	ENST00000409792.3	-	3	598	c.556C>A	c.(556-558)Ccg>Acg	p.P186T		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	186	Pro-rich.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GATGAGGGCGGTGAGTCTACA	0.552			"N, F, S, Mis"		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													572	523	537					3																	47165570		692	1591	2283	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.556C>A	3.37:g.47165570G>T	ENSP00000386759:p.Pro186Thr		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.P186T	ENST00000409792.3	37	c.556	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390864	0.25118	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90444	-2.67;1.18	5.03	5.03	0.67393	.	.	.	.	.	D	0.82453	0.5040	N	0.14661	0.345	0.32924	D	0.516189	B;B	0.30824	0.296;0.296	B;B	0.26202	0.067;0.067	D	0.85683	0.1302	9	0.72032	D	0.01	.	13.1809	0.59653	0.0:0.0:0.8405:0.1595	.	186;186	F2Z317;Q9BYW2	.;SETD2_HUMAN	T	186;186;186;142	ENSP00000386759:P186T;ENSP00000416401:P142T	ENSP00000386759:P186T	P	-	1	0	SETD2	47140574	0.996000	0.38824	0.998000	0.56505	0.946000	0.59487	2.650000	0.46665	2.621000	0.88768	0.563000	0.77884	CCG	SETD2	-	NULL	ENSG00000181555		0.552	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2		0	78	0	G	NM_014159		47165570	-1			no_errors	ENST00000409792	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.962	T	T	47165570	G	T	47165570	3	4	108	1	0	0	0	0	1	0	0	0	14176	1261	44	3	7214	3	SETD2	3	47165570	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09		47165570	150856860	30	29563											
NCKIPSD	51517	genome.wustl.edu	37	chr3	48719087	48719087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggcacaggtgggggtGtgggtgagcagctggagcct	5	6	23	7	1	0	1	0	1	0	0	0	2	0	2	1	8	3	3	1	8	0	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:48719087G>T	ENST00000294129.2	-	5	844	c.725C>A	c.(724-726)aCa>aAa	p.T242K	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.T235K|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.T242K	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	242	Pro-rich.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGTGGGGGTGTGGGTGAGCA	0.637																																																	0													27	32	30					3																	48719087		2203	4300	6503	SO:0001583	missense	0			AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"dia interacting protein", "diaphanous protein interacting protein", "SH3 protein interacting with Nck, 90 kDa"	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.725C>A	3.37:g.48719087G>T	ENSP00000294129:p.Thr242Lys		B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.T242K	ENST00000294129.2	37	c.725	CCDS2776.1	3	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937948	0.92526	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518;ENST00000453349;ENST00000426678	T;T;T;T	0.49720	0.77;1.39;1.39;1.3	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000002	T	0.66036	0.2749	M	0.62723	1.935	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.963;0.963;0.983	T	0.61481	-0.7054	10	0.27785	T	0.31	.	18.8863	0.92379	0.0:0.0:1.0:0.0	.	242;242;235	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	K	242;235;242;242;164;126	ENSP00000342621:T242K;ENSP00000389059:T235K;ENSP00000294129:T242K;ENSP00000409675:T242K	ENSP00000294129:T242K	T	-	2	0	NCKIPSD	48694091	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	6.369000	0.73109	2.442000	0.82660	0.563000	0.77884	ACA	NCKIPSD	-	NULL	ENSG00000213672		0.637	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257520.1		0	44	0	G	NM_016453		48719087	-1			no_errors	ENST00000294129	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	48719087	G	T	48719087	3	4	108	1	0	0	0	0	1	0	0	0	10264	1377	48	3	1479	3	NCKIPSD	3	48719087	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	1553517	48719087	149303343	31	29564											
C3orf63	23272	genome.wustl.edu	37	chr3	56703801	56703801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcttgtaataaatcagcaTacctagaaagatagacacct	16	10	6	9	1	1	3	1	0	0	3	2	3	1	3	2	0	2	3	2	0	7	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:56703801T>A	ENST00000493960.2	-	5	672	c.662A>T	c.(661-663)tAt>tTt	p.Y221F	FAM208A_ENST00000355628.5_Missense_Mutation_p.Y221F	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	221							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TAAATCAGCATACCTAGAAAG	0.303																																																	0													67	61	63					3																	56703801		692	1591	2283	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"chromosome 3 open reading frame 63"	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.662A>T	3.37:g.56703801T>A	ENSP00000417509:p.Tyr221Phe		A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.Y221F	ENST00000493960.2	37	c.662	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140230	0.77775	.	.	ENSG00000163946	ENST00000493960;ENST00000355628	T;T	0.48522	0.81;0.81	5.51	5.51	0.81932	.	.	.	.	.	T	0.62950	0.2470	L	0.46157	1.445	0.49687	D	0.999817	D;D	0.89917	0.98;1.0	P;D	0.83275	0.689;0.996	T	0.65944	-0.6045	9	0.87932	D	0	-5.7639	15.32	0.74115	0.0:0.0:0.0:1.0	.	221;221	Q9UK61-3;Q9UK61-4	.;.	F	221	ENSP00000417509:Y221F;ENSP00000347845:Y221F	ENSP00000347845:Y221F	Y	-	2	0	C3orf63	56678841	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.917000	0.63369	2.088000	0.63022	0.533000	0.62120	TAT	FAM208A	-	pfam_DUF3715	ENSG00000163946		0.303	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	-	0	54	0	T	NM_015224		56703801	-1	tier1	-	no_errors	ENST00000355628	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	A	A	56703801	T	A	56703801	3	1	108	1	0	0	0	0	1	0	0	0	2246	1406	49	5	4490	5	C3orf63	3	56703801	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	7984714	56703801	141318629	32	29565											
PHLDB2	90102	genome.wustl.edu	37	chr3	111603832	111603832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacaatgacaattaccttaAtttttcttctttgagctcag	12	16	5	8	0	3	3	1	2	2	1	3	3	3	3	1	0	2	1	1	0	4	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:111603832A>G	ENST00000431670.2	+	2	1319	c.908A>G	c.(907-909)aAt>aGt	p.N303S	PHLDB2_ENST00000412622.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.N303S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.N330S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.N303S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	303						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATTACCTTAATTTTTCTTCT	0.438																																																	0													69	73	72					3																	111603832		2203	4300	6503	SO:0001583	missense	0				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"Pleckstrin homology (PH) domain containing"	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.908A>G	3.37:g.111603832A>G	ENSP00000405405:p.Asn303Ser		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N303S	ENST00000431670.2	37	c.908	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408974	0.25378	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.35789	1.29;1.43;1.31;1.41;1.43;1.31	5.4	1.67	0.24075	.	0.408346	0.28895	N	0.013798	T	0.13372	0.0324	N	0.08118	0	0.31498	N	0.665107	B;B;B;B;B	0.24317	0.001;0.005;0.101;0.001;0.005	B;B;B;B;B	0.22601	0.0;0.02;0.04;0.001;0.007	T	0.25676	-1.0125	10	0.07990	T	0.79	.	5.0805	0.14653	0.6808:0.1556:0.1636:0.0	.	303;303;303;303;330	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	S	330;330;303;303;303;303;303;303;303	ENSP00000377500:N330S;ENSP00000405405:N303S;ENSP00000405292:N303S;ENSP00000418296:N303S;ENSP00000377502:N303S;ENSP00000418319:N303S	ENSP00000352764:N330S	N	+	2	0	PHLDB2	113086522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.047000	0.41269	0.426000	0.26116	0.533000	0.62120	AAT	PHLDB2	-	NULL	ENSG00000144824		0.438	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	HGNC	protein_coding	OTTHUMT00000354337.1	-	0	40	0	A	NM_145753		111603832	1	tier1	-	no_errors	ENST00000393925	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G	G	111603832	A	G	111603832	3	3	108	1	0	0	0	0	1	0	0	0	11891	101	4	4	995	4	PHLDB2	3	111603832	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	54900031	111603832	86418598	33	29566											
CCDC80	151887	genome.wustl.edu	37	chr3	112349104	112349104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catattgttctcagccttggGagcagtgatcagctggaggt	8	12	13	8	0	2	1	2	1	1	0	3	3	2	3	1	3	3	3	1	3	1	4	rs139735741		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:112349104G>T	ENST00000206423.3	-	3	2844	c.1891C>A	c.(1891-1893)Ccc>Acc	p.P631T	CCDC80_ENST00000439685.2_Missense_Mutation_p.P631T	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	631					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCAGCCTTGGGAGCAGTGATC	0.423																																																	0													151	140	144					3																	112349104		2203	4300	6503	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"steroid sensitive gene 1"	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1891C>A	3.37:g.112349104G>T	ENSP00000206423:p.Pro631Thr		D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.P631T	ENST00000206423.3	37	c.1891	CCDS2968.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.418947|4.418947	0.83559|0.83559	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594|ENST00000461431	T;T|.	0.52057|.	0.68;0.68|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81669|0.81669	0.4871|0.4871	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.82143|0.82143	-0.0603|-0.0603	10|5	0.87932|.	D|.	0|.	-17.648|-17.648	19.3382|19.3382	0.94329|0.94329	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	642;631;631|.	Q76M96-2;A3KC71;Q76M96|.	.;.;CCD80_HUMAN|.	T|Y	631;631;259|28	ENSP00000206423:P631T;ENSP00000411814:P631T|.	ENSP00000206423:P631T|.	P|S	-|-	1|2	0|0	CCDC80|CCDC80	113831794|113831794	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.913000|0.913000	0.54294|0.54294	9.378000|9.378000	0.97191|0.97191	2.643000|2.643000	0.89663|0.89663	0.460000|0.460000	0.39030|0.39030	CCC|TCC	CCDC80	-	NULL	ENSG00000091986		0.423	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1		0	51	0	G	NM_199511		112349104	-1			no_errors	ENST00000206423	ensembl	human	known	74_37	missense	6.67	42	3	SNP	1.000	T	T	112349104	G	T	112349104	3	4	108	1	0	0	0	0	1	0	0	0	2861	1174	41	3	985	3	CCDC80	3	112349104	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	745272	112349104	85673326	34	29567											
ASTE1	28990	genome.wustl.edu	37	chr3	130732925	130732925	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatgttggaggcctcactAtgttcctctaagttttcaac	9	15	7	10	0	4	0	3	0	1	0	5	1	5	1	2	2	1	3	2	2	4	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:130732925A>G	ENST00000264992.3	-	6	2457	c.2016T>C	c.(2014-2016)caT>caC	p.H672H	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000328560.8_Intron|ASTE1_ENST00000514044.1_Silent_p.H697H|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	672					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						AGGCCTCACTATGTTCCTCTA	0.388																																																	0													97	91	93					3																	130732925		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.2016T>C	3.37:g.130732925A>G			B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	pfam_XPG_DNA_repair_N	p.H672	ENST00000264992.3	37	c.2016	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.388	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0	17	0	A	NM_014065		130732925	-1			no_errors	ENST00000264992	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.000	G	G	130732925	A	G	130732925	2	3	108	1	0	0	0	0	0	0	0	1	1063	446	16	4		4	ASTE1	3	130732925	Silent	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	18383821	130732925	67289505	35	29568											
ARMC8	25852	genome.wustl.edu	37	chr3	137991875	137991875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcttgagtactgaacagCtattccggttattatcagat	12	13	9	7	1	1	3	1	2	0	1	2	4	2	3	1	1	4	4	1	1	6	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:137991875C>T	ENST00000469044.1	+	17	1817	c.1546C>T	c.(1546-1548)Cta>Tta	p.L516L	NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000491704.1_Silent_p.L474L|ARMC8_ENST00000538260.1_Silent_p.L485L|ARMC8_ENST00000461822.1_Silent_p.L449L|ARMC8_ENST00000485396.1_Silent_p.L443L|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000481646.1_Silent_p.L502L|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000393058.3_Silent_p.L506L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	516										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TACTGAACAGCTATTCCGGTT	0.368																																																	0													111	105	107					3																	137991875		1819	4084	5903	SO:0001819	synonymous_variant	0				CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"Armadillo repeat containing"	24999	protein-coding gene	gene with protein product	"GID complex subunit 5, VID28 homolog (S. cerevisiae)"					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1546C>T	3.37:g.137991875C>T			A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L516	ENST00000469044.1	37	c.1546		3																																																																																			ARMC8	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000114098		0.368	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	ARMC8	HGNC	protein_coding	OTTHUMT00000357560.1	-	0	45	0	C	NM_015396		137991875	1	tier1	-	no_errors	ENST00000469044	ensembl	human	known	74_37	silent	23.53	26	8	SNP	1.000	T	T	137991875	C	T	137991875	2	4	108	1	0	0	0	0	0	0	0	1	958	796	28	3		3	ARMC8	3	137991875	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	7258950	137991875	60030555	36	29569											
LRRC34	151827	genome.wustl.edu	37	chr3	169514046	169514046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaagagtttcactgagataGtttgcgcctgcattttctat	9	16	9	7	1	2	2	1	1	1	2	2	3	2	2	1	0	2	4	1	0	3	7			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:169514046G>T	ENST00000316515.7	-	8	1161	c.885C>A	c.(883-885)aaC>aaA	p.N295K	RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000522830.1_Missense_Mutation_p.N279K|RP11-362K14.6_ENST00000602835.1_RNA|LRRC34_ENST00000446859.1_Missense_Mutation_p.N340K|LRRC34_ENST00000522526.2_Missense_Mutation_p.N308K|LRRC34_ENST00000524327.1_5'UTR	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	295										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CACTGAGATAGTTTGCGCCTG	0.333																																																	0													120	117	118					3																	169514046		2202	4300	6502	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.885C>A	3.37:g.169514046G>T	ENSP00000326150:p.Asn295Lys		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.N340K	ENST00000316515.7	37	c.1020		3	.	.	.	.	.	.	.	.	.	.	G	0.849	-0.739254	0.03088	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.47	-6.95	0.01628	.	0.692724	0.15596	N	0.254174	T	0.12263	0.0298	N	0.00493	-1.44	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.002;0.002	T	0.39440	-0.9614	10	0.21014	T	0.42	0.0532	11.6904	0.51512	0.263:0.5063:0.2307:0.0	.	327;279;279;340;295	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	K	340;295;279;308	ENSP00000414635:N340K;ENSP00000326150:N295K;ENSP00000429593:N279K;ENSP00000429278:N308K	ENSP00000326150:N295K	N	-	3	2	LRRC34	170996740	0.001000	0.12720	0.604000	0.28916	0.798000	0.45092	-0.850000	0.04317	-0.973000	0.03555	0.585000	0.79938	AAC	LRRC34	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000171757		0.333	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding			0	52	0	G	NM_153353		169514046	-1			no_errors	ENST00000446859	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.007	T	T	169514046	G	T	169514046	3	4	108	1	0	0	0	0	1	0	0	0	9024	1020	36	3	408	3	LRRC34	3	169514046	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	31522171	169514046	28508384	37	29570											
NLGN1	22871	genome.wustl.edu	37	chr3	173997346	173997346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactgggaatccccatgattGgccctacagagttatttcct	9	13	8	11	0	0	2	0	1	0	1	2	3	2	3	4	2	2	1	4	2	4	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:173997346G>A	ENST00000457714.1	+	6	1984	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S	NLGN1_ENST00000361589.4_Missense_Mutation_p.G519S|NLGN1_ENST00000401917.3_Missense_Mutation_p.G559S|NLGN1_ENST00000545397.1_Missense_Mutation_p.G519S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	536					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.G519S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CCCCATGATTGGCCCTACAGA	0.448																																																	1	Substitution - Missense(1)	lung(1)											55	53	53					3																	173997346		2203	4300	6503	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1555G>A	3.37:g.173997346G>A	ENSP00000392500:p.Gly519Ser		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.G559S	ENST00000457714.1	37	c.1675	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791840	0.70452	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	L	0.31752	0.955	0.80722	D	1	D;P	0.60575	0.988;0.922	D;P	0.67900	0.954;0.866	T	0.69702	-0.5074	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	559;519	D2X2H5;Q8N2Q7-2	.;.	S	519;519;519;559	ENSP00000392500:G519S;ENSP00000354541:G519S;ENSP00000441108:G519S;ENSP00000385750:G559S	ENSP00000354541:G519S	G	+	1	0	NLGN1	175480040	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGC	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.448	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	-	0	69	0	G	NM_014932		173997346	1	tier1	-	no_errors	ENST00000401917	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	A	A	173997346	G	A	173997346	3	1	108	1	0	0	0	0	1	0	0	0	10500	1348	47	3	1569	3	NLGN1	3	173997346	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	4483300	173997346	24025084	38	29571											
ACAP2	23527	genome.wustl.edu	37	chr3	195013077	195013077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaccatgagccaaagcctCagccattttaggaaggtttt	11	11	9	10	0	1	1	1	1	0	0	1	2	1	2	4	2	4	2	4	2	3	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr3:195013077C>T	ENST00000326793.6	-	19	2100	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	624					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCCAAAGCCTCAGCCATTTTA	0.418																																																	0													156	156	156					3																	195013077		2203	4300	6503	SO:0001583	missense	0				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16469	protein-coding gene	gene with protein product		607766	"centaurin, beta 2"	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1870G>A	3.37:g.195013077C>T	ENSP00000324287:p.Glu624Lys		A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E624K	ENST00000326793.6	37	c.1870	CCDS33924.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898266	0.91962	.	.	ENSG00000114331	ENST00000326793	T	0.63096	-0.02	5.43	5.43	0.79202	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.69358	2.11	0.58432	D	0.999997	P	0.38420	0.63	B	0.40864	0.342	T	0.60850	-0.7181	10	0.17832	T	0.49	.	18.2382	0.89957	0.0:1.0:0.0:0.0	.	624	Q15057	ACAP2_HUMAN	K	624	ENSP00000324287:E624K	ENSP00000324287:E624K	E	-	1	0	ACAP2	196494366	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.519000	0.67074	2.560000	0.86352	0.655000	0.94253	GAG	ACAP2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000114331		0.418	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAP2	HGNC	protein_coding	OTTHUMT00000342126.2	-	0	39	0	C	NM_012287		195013077	-1	tier1	-	no_errors	ENST00000326793	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	T	T	195013077	C	T	195013077	3	4	108	1	0	0	0	0	1	0	0	0	119	835	29	3	486	3	ACAP2	3	195013077	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	21015731	195013077	3009353	39	29572											
RGS12	6002	genome.wustl.edu	37	chr4	3418649	3418649	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccccagatcttcaatCtcatgaagtttgatagctac	10	14	5	12	0	4	3	2	2	3	1	6	3	4	3	2	0	2	2	2	0	4	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:3418649C>A	ENST00000344733.5	+	8	3341	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.L813I|RGS12_ENST00000306648.7_Missense_Mutation_p.L211I|RGS12_ENST00000538395.1_Missense_Mutation_p.L155I|RGS12_ENST00000338806.4_Missense_Mutation_p.L165I|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.L813I	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	813	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATCTTCAATCTCATGAAGTT	0.577																																																	0													78	79	78					4																	3418649		2203	4300	6503	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"Regulators of G-protein signaling"	9994	protein-coding gene	gene with protein product		602512	"regulator of G-protein signalling 12"			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2437C>A	4.37:g.3418649C>A	ENSP00000339381:p.Leu813Ile		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.L813I	ENST00000344733.5	37	c.2437	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583863	0.65992	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06	4.5	2.72	0.32119	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000003	T	0.20333	0.0489	M	0.92691	3.335	0.52501	D	0.999952	B;D;D;D;P;P;B;B;B	0.63046	0.41;0.992;0.969;0.992;0.609;0.723;0.41;0.434;0.38	P;D;D;D;P;D;P;P;P	0.74674	0.863;0.913;0.984;0.913;0.862;0.961;0.903;0.822;0.728	T	0.01065	-1.1463	10	0.87932	D	0	-19.9544	8.647	0.34011	0.0:0.7328:0.0:0.2672	.	155;12;155;12;155;165;211;813;813	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	I	813;813;813;211;165;155	ENSP00000339381:L813I;ENSP00000338509:L813I;ENSP00000372238:L813I;ENSP00000304459:L211I;ENSP00000342133:L165I;ENSP00000438888:L155I	ENSP00000304459:L211I	L	+	1	0	RGS12	3388447	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	0.838000	0.27572	1.026000	0.39733	-0.192000	0.12808	CTC	RGS12	-	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	ENSG00000159788		0.577	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	-	0	38	0	C	NM_002926		3418649	1	tier1	-	no_errors	ENST00000344733	ensembl	human	known	74_37	missense	15.15	28	5	SNP	1.000	A	A	3418649	C	A	3418649	3	1	108	1	0	0	0	0	1	0	0	0	13340	913	32	3	2521	3	RGS12	4	3418649	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09		3418649	187735627	40	29573											
LGI2	55203	genome.wustl.edu	37	chr4	25019636	25019636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtgcattcatagtcaaaGctggtcacgtcatttagctt	9	15	9	8	1	4	0	4	0	0	0	4	0	4	0	0	1	3	4	0	1	3	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:25019636G>T	ENST00000382114.4	-	6	815	c.630C>A	c.(628-630)agC>agA	p.S210R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	210	LRRCT.					extracellular region (GO:0005576)				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CATAGTCAAAGCTGGTCACGT	0.408																																																	0													253	226	235					4																	25019636		2203	4300	6503	SO:0001583	missense	0			AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.630C>A	4.37:g.25019636G>T	ENSP00000371548:p.Ser210Arg		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.S210R	ENST00000382114.4	37	c.630	CCDS3431.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.010888|3.010888	0.54361|0.54361	.|.	.|.	ENSG00000153012|ENSG00000153012	ENST00000512108|ENST00000382114	.|T	.|0.62498	.|0.02	5.65|5.65	2.53|2.53	0.30540|0.30540	.|Cysteine-rich flanking region, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52996|0.52996	0.1769|0.1769	L|L	0.53729|0.53729	1.69|1.69	0.54753|0.54753	D|D	0.999987|0.999987	.|P	.|0.42827	.|0.791	.|P	.|0.44422	.|0.449	T|T	0.44892|0.44892	-0.9298|-0.9298	5|10	.|0.16420	.|T	.|0.52	-32.5974|-32.5974	5.3418|5.3418	0.15988|0.15988	0.5228:0.0:0.4772:0.0|0.5228:0.0:0.4772:0.0	.|.	.|210	.|Q8N0V4	.|LGI2_HUMAN	D|R	201|210	.|ENSP00000371548:S210R	.|ENSP00000371548:S210R	A|S	-|-	2|3	0|2	LGI2|LGI2	24628734|24628734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.493000|4.493000	0.60341|0.60341	0.866000|0.866000	0.35629|0.35629	-0.251000|-0.251000	0.11542|0.11542	GCT|AGC	LGI2	-	smart_Cys-rich_flank_reg_C	ENSG00000153012		0.408	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI2	HGNC	protein_coding	OTTHUMT00000214978.1	-	0	79	0	G			25019636	-1	tier1	-	no_errors	ENST00000382114	ensembl	human	known	74_37	missense	21.43	44	12	SNP	1.000	T	T	25019636	G	T	25019636	3	4	108	1	0	0	0	0	1	0	0	0	8781	962	34	3	1019	3	LGI2	4	25019636	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	21600987	25019636	166134640	41	29574											
BMP3	651	genome.wustl.edu	37	chr4	81967471	81967471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttgctgcctctgcagaAcaacgagcttcctggggcag	7	9	13	12	1	2	1	0	0	2	1	3	2	3	1	2	3	6	4	2	3	2	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:81967471A>G	ENST00000282701.2	+	2	1216	c.896A>G	c.(895-897)aAc>aGc	p.N299S		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	299					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTCTGCAGAACAACGAGCTT	0.532																																																	0													57	64	62					4																	81967471		2203	4298	6501	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"Bone morphogenetic proteins"	1070	protein-coding gene	gene with protein product	"osteogenin"	112263	"bone morphogenetic protein 3 (osteogenic)"				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.896A>G	4.37:g.81967471A>G	ENSP00000282701:p.Asn299Ser		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.N299S	ENST00000282701.2	37	c.896	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712745	0.68730	.	.	ENSG00000152785	ENST00000282701	T	0.75367	-0.93	5.16	5.16	0.70880	.	0.039037	0.85682	D	0.000000	D	0.84656	0.5520	M	0.79475	2.455	0.58432	D	0.999998	D	0.69078	0.997	D	0.63283	0.913	D	0.86645	0.1894	10	0.62326	D	0.03	.	14.9465	0.71035	1.0:0.0:0.0:0.0	.	299	P12645	BMP3_HUMAN	S	299	ENSP00000282701:N299S	ENSP00000282701:N299S	N	+	2	0	BMP3	82186495	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.437000	0.80417	2.072000	0.62099	0.533000	0.62120	AAC	BMP3	-	pirsf_BMP3/GDF10	ENSG00000152785		0.532	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1		0	24	0	A			81967471	1			no_errors	ENST00000282701	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	G	G	81967471	A	G	81967471	3	3	108	1	0	0	0	0	1	0	0	0	1463	43	2	4	902	4	BMP3	4	81967471	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	56947835	81967471	109186805	42	29575											
BMPR1B	658	genome.wustl.edu	37	chr4	96070005	96070005	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaaatcacttccagtctTacatcatggctgacatgtat	13	12	6	10	0	3	2	2	1	1	1	4	2	4	2	1	1	1	2	1	1	3	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:96070005T>G	ENST00000515059.1	+	11	1466	c.1183T>G	c.(1183-1185)Tac>Gac	p.Y395D	BMPR1B_ENST00000264568.4_Missense_Mutation_p.Y395D|BMPR1B_ENST00000394931.1_Missense_Mutation_p.Y395D|BMPR1B_ENST00000440890.2_Missense_Mutation_p.Y425D	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	395	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		CTTCCAGTCTTACATCATGGC	0.443																																																	0													197	172	180					4																	96070005		2203	4300	6503	SO:0001583	missense	0			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"CD molecules"	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.1183T>G	4.37:g.96070005T>G	ENSP00000426617:p.Tyr395Asp		B2R953|B4DSV1|P78366	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.Y425D	ENST00000515059.1	37	c.1273	CCDS3642.1	4	.	.	.	.	.	.	.	.	.	.	T	24.8	4.566954	0.86439	.	.	ENSG00000138696	ENST00000515059;ENST00000512312;ENST00000509540;ENST00000440890;ENST00000264568;ENST00000394931	D;D;D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98;-2.98;-2.98	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.116180	0.64402	D	0.000011	D	0.95443	0.8520	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95809	0.8840	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	395	O00238	BMR1B_HUMAN	D	395;395;395;425;395;395	ENSP00000426617:Y395D;ENSP00000425444:Y395D;ENSP00000421671:Y395D;ENSP00000401907:Y425D;ENSP00000264568:Y395D;ENSP00000378389:Y395D	ENSP00000264568:Y395D	Y	+	1	0	BMPR1B	96289028	1.000000	0.71417	0.973000	0.42090	0.996000	0.88848	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	TAC	BMPR1B	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000138696		0.443	BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR1B	HGNC	protein_coding	OTTHUMT00000253609.3	-	0	99	0	T	NM_001203		96070005	1	tier1	-	no_errors	ENST00000440890	ensembl	human	known	74_37	missense	12.16	65	9	SNP	0.999	G	G	96070005	T	G	96070005	3	3	108	1	0	0	0	0	1	0	0	0	1472	1754	61	4	1213	4	BMPR1B	4	96070005	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	14102534	96070005	95084271	43	29576											
CXXC4	80319	genome.wustl.edu	37	chr4	105412091	105412091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgccagctccccctgaggagGacgaggaggaggaggaatga	11	3	17	10	2	0	2	0	2	0	0	1	9	1	8	3	6	1	1	3	6	1	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:105412091G>C	ENST00000426831.1	-	1	376	c.362C>G	c.(361-363)tCc>tGc	p.S121C	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_Missense_Mutation_p.S290C|AC004053.1_ENST00000500179.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	121	Poly-Ser.				negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CCCTGAGGAGGACGAGGAGGA	0.602																																																	0													71	77	75					4																	105412091		2203	4300	6503	SO:0001583	missense	0				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.362C>G	4.37:g.105412091G>C	ENSP00000412267:p.Ser121Cys			Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.S290C	ENST00000426831.1	37	c.869		4	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142658	0.57044	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.7	4.7	0.59300	.	86.564400	0.05759	U	0.604542	T	0.40015	0.1100	N	0.08118	0	0.37177	D	0.903329	B	0.32693	0.38	B	0.31751	0.135	T	0.20907	-1.0261	9	0.46703	T	0.11	-4.4503	15.7738	0.78193	0.0:0.0:1.0:0.0	.	121	Q9H2H0	CXXC4_HUMAN	C	121	.	ENSP00000378248:S121C	S	-	2	0	CXXC4	105631540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.077000	0.57598	2.315000	0.78130	0.585000	0.79938	TCC	CXXC4	-	NULL	ENSG00000168772		0.602	CXXC4-201	KNOWN	basic	protein_coding	CXXC4	HGNC	protein_coding		-	0	67	0	G	NM_025212		105412091	-1	tier1	-	no_errors	ENST00000394767	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	C	C	105412091	G	C	105412091	3	2	108	1	0	0	0	0	1	0	0	0	4107	1174	41	5	242	5	CXXC4	4	105412091	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	9342086	105412091	85742185	44	29577											
PCDH10	57575	genome.wustl.edu	37	chr4	134073819	134073819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttcttaagccctgcagcCcttcgcggagtacggacact	7	11	10	13	3	1	0	0	0	1	0	2	2	1	2	2	2	4	3	2	2	2	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:134073819C>A	ENST00000264360.5	+	1	3350	c.2524C>A	c.(2524-2526)Cct>Act	p.P842T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	842					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCCTGCAGCCCTTCGCGGAG	0.572																																																	0													87	79	82					4																	134073819		2203	4300	6503	SO:0001583	missense	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"Cadherins / Protocadherins : Non-clustered"	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2524C>A	4.37:g.134073819C>A	ENSP00000264360:p.Pro842Thr		Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P842T	ENST00000264360.5	37	c.2524	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918187	0.52546	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	5.13	5.13	0.70059	.	0.000000	0.44902	D	0.000413	T	0.65801	0.2726	L	0.49350	1.555	0.80722	D	1	D;D	0.67145	0.961;0.996	P;P	0.61201	0.522;0.885	T	0.67333	-0.5697	10	0.54805	T	0.06	.	18.2039	0.89848	0.0:1.0:0.0:0.0	.	842;842	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	842	ENSP00000264360:P842T	ENSP00000264360:P842T	P	+	1	0	PCDH10	134293269	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.456000	0.80751	2.387000	0.81309	0.650000	0.86243	CCT	PCDH10	-	NULL	ENSG00000138650		0.572	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0	44	0	C	NM_032961		134073819	1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	A	A	134073819	C	A	134073819	3	1	108	1	0	0	0	0	1	0	0	0	11546	623	22	3	2526	3	PCDH10	4	134073819	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	28661728	134073819	57080457	45	29578											
TLR2	7097	genome.wustl.edu	37	chr4	154625228	154625228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcctggccctctctacAaactttaattttaaggcaaa	12	12	7	10	0	1	0	0	0	1	0	2	1	1	1	2	3	3	1	2	3	5	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:154625228A>G	ENST00000260010.6	+	1	2577	c.1169A>G	c.(1168-1170)cAa>cGa	p.Q390R		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	390					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.Q390R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	CCCTCTCTACAAACTTTAATT	0.343																																																	1	Substitution - Missense(1)	lung(1)											38	40	39					4																	154625228		2202	4299	6501	SO:0001583	missense	0			U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"CD molecules"	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.1169A>G	4.37:g.154625228A>G	ENSP00000260010:p.Gln390Arg		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Q390R	ENST00000260010.6	37	c.1169	CCDS3784.1	4	.	.	.	.	.	.	.	.	.	.	A	6.600	0.479028	0.12581	.	.	ENSG00000137462	ENST00000260010	T	0.55588	0.51	6.06	3.6	0.41247	.	0.504675	0.21875	N	0.067837	T	0.52273	0.1724	M	0.70903	2.155	0.20074	N	0.999938	B	0.14012	0.009	B	0.24155	0.051	T	0.52815	-0.8525	10	0.62326	D	0.03	.	10.9909	0.47549	0.872:0.0:0.128:0.0	.	390	O60603	TLR2_HUMAN	R	390	ENSP00000260010:Q390R	ENSP00000260010:Q390R	Q	+	2	0	TLR2	154844678	0.250000	0.23951	0.007000	0.13788	0.540000	0.34992	3.465000	0.53064	1.114000	0.41781	-0.264000	0.10439	CAA	TLR2	-	pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp	ENSG00000137462		0.343	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR2	HGNC	protein_coding	OTTHUMT00000365205.1		0	41	0	A			154625228	1			no_errors	ENST00000260010	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.311	G	G	154625228	A	G	154625228	3	3	108	1	0	0	0	0	1	0	0	0	15998	130	5	4	1171	4	TLR2	4	154625228	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	20551409	154625228	36529048	46	29579											
TLL1	7092	genome.wustl.edu	37	chr4	166924650	166924650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaattgggtcatgtgatagGcttttggcatgaacacacaa	12	12	11	6	0	1	3	1	3	0	0	1	3	1	3	0	3	1	2	0	3	4	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr4:166924650G>T	ENST00000061240.2	+	6	1387	c.740G>T	c.(739-741)gGc>gTc	p.G247V	TLL1_ENST00000513213.1_Missense_Mutation_p.G247V|TLL1_ENST00000507499.1_Missense_Mutation_p.G247V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	247	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CATGTGATAGGCTTTTGGCAT	0.433																																																	0													187	166	173					4																	166924650		2203	4300	6503	SO:0001583	missense	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.740G>T	4.37:g.166924650G>T	ENSP00000061240:p.Gly247Val		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G247V	ENST00000061240.2	37	c.740	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469339	0.63625	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	D;D;D	0.96365	-3.99;-3.99;-3.99	5.35	5.35	0.76521	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.99208	0.9725	H	0.99900	4.915	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.67548	0.952;0.898	D	0.98435	1.0584	10	0.87932	D	0	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	247;247	E9PD25;O43897	.;TLL1_HUMAN	V	247	ENSP00000061240:G247V;ENSP00000426082:G247V;ENSP00000422937:G247V	ENSP00000061240:G247V	G	+	2	0	TLL1	167144100	1.000000	0.71417	1.000000	0.80357	0.106000	0.19336	9.813000	0.99286	2.653000	0.90120	0.557000	0.71058	GGC	TLL1	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A	ENSG00000038295		0.433	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0	82	0	G			166924650	1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	missense	16.67	50	10	SNP	1.000	T	T	166924650	G	T	166924650	3	4	108	1	0	0	0	0	1	0	0	0	15992	1203	42	3	762	3	TLL1	4	166924650	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	12299422	166924650	24229626	47	29580											
MYO10	4651	genome.wustl.edu	37	chr5	16670918	16670918	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggggtgaaggttttggttGactggctgatgcgggccttg	6	12	18	5	1	0	3	0	3	0	0	0	3	0	3	1	6	1	3	1	6	2	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:16670918G>C	ENST00000513610.1	-	39	6054	c.5600C>G	c.(5599-5601)tCa>tGa	p.S1867*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.S1206*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.S1224*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.S1206*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.S1224*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1867	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGTTTTGGTTGACTGGCTGAT	0.592																																																	0													50	54	53					5																	16670918		1944	4140	6084	SO:0001587	stop_gained	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"Myosins / Myosin superfamily : Class X", "Pleckstrin homology (PH) domain containing"	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5600C>G	5.37:g.16670918G>C	ENSP00000421280:p.Ser1867*		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.S1867*	ENST00000513610.1	37	c.5600	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	G	49	15.456202	0.99834	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	.	.	.	X	1867;1206;1224;1206;1224	.	ENSP00000274203:S1224X	S	-	2	0	MYO10	16723918	1.000000	0.71417	0.670000	0.29842	0.763000	0.43281	5.623000	0.67757	2.804000	0.96469	0.655000	0.94253	TCA	MYO10	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000145555		0.592	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1		0	59	0	G	NM_012334		16670918	-1			no_errors	ENST00000513610	ensembl	human	known	74_37	nonsense	8.33	33	3	SNP	0.999	C	C	16670918	G	C	16670918	4	2	108	1	0	0	0	0	0	1	0	0	10100	1294	45	5	588	5	MYO10	5	16670918	Nonsense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09		16670918	164244342	48	29581											
IPO11	51194	genome.wustl.edu	37	chr5	61826585	61826585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacaccagagttgcttcgtAtatttcagaatatgtcacca	12	14	6	9	1	2	2	2	0	0	2	3	2	2	2	2	0	2	3	2	0	5	7			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:61826585A>G	ENST00000325324.6	+	22	2231	c.2062A>G	c.(2062-2064)Ata>Gta	p.I688V	IPO11_ENST00000409296.3_Missense_Mutation_p.I728V|KIF2A_ENST00000509663.2_3'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	688					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTTGCTTCGTATATTTCAGAA	0.348																																																	0													124	116	119					5																	61826585		2203	4299	6502	SO:0001583	missense	0			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"Importins"	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2062A>G	5.37:g.61826585A>G	ENSP00000316651:p.Ile688Val		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.I728V	ENST00000325324.6	37	c.2182	CCDS34167.1	5	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602094	0.46423	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.69306	-0.39;-0.39	5.02	1.1	0.20463	Armadillo-like helical (1);Armadillo-type fold (1);	0.135808	0.64402	N	0.000004	T	0.50292	0.1607	L	0.38175	1.15	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35895	-0.9770	10	0.59425	D	0.04	.	5.7168	0.17964	0.7449:0.0:0.1283:0.1268	.	728;688	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	V	688;728;258	ENSP00000316651:I688V;ENSP00000386992:I728V	ENSP00000316651:I688V	I	+	1	0	IPO11	61862342	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.481000	0.60250	0.017000	0.15025	0.528000	0.53228	ATA	IPO11	-	superfamily_ARM-type_fold	ENSG00000086200		0.348	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	-	0	80	0	A	NM_016338		61826585	1	tier1	-	no_errors	ENST00000409296	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	G	G	61826585	A	G	61826585	3	3	108	1	0	0	0	0	1	0	0	0	7820	449	16	4	2268	4	IPO11	5	61826585	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	45155667	61826585	119088675	49	29582											
BHMT	635	genome.wustl.edu	37	chr5	78426767	78426767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacacagggccaggaaggAatactgggagaatcttcgga	13	7	13	8	1	2	1	1	0	1	1	3	5	2	4	1	5	1	0	1	5	4	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:78426767A>G	ENST00000274353.5	+	8	1156	c.1049A>G	c.(1048-1050)gAa>gGa	p.E350G	DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.E197G	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	350					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCCAGGAAGGAATACTGGGAG	0.468																																																	0													121	127	125					5																	78426767		2203	4300	6503	SO:0001583	missense	0			BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"betaine homocysteine methyltransferase"	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1049A>G	5.37:g.78426767A>G	ENSP00000274353:p.Glu350Gly		Q9UNI9	Missense_Mutation	SNP	pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase	p.E350G	ENST00000274353.5	37	c.1049	CCDS4046.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.3|21.3	4.125204|4.125204	0.77436|0.77436	.|.	.|.	ENSG00000145692|ENSG00000145692	ENST00000274353;ENST00000524080|ENST00000436224	T;T|.	0.31769|.	1.48;1.48|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Homocysteine S-methyltransferase (2);|.	0.047245|.	0.85682|.	D|.	0.000000|.	T|T	0.71074|0.71074	0.3297|0.3297	L|L	0.52905|0.52905	1.665|1.665	0.80722|0.80722	D|D	1|1	P;B|.	0.49696|.	0.927;0.402|.	B;B|.	0.37198|.	0.243;0.177|.	T|T	0.74163|0.74163	-0.3754|-0.3754	10|6	0.28530|0.87932	T|D	0.3|0	-10.0019|-10.0019	15.7049|15.7049	0.77569|0.77569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	197;350|.	E5RJH0;Q93088|.	.;BHMT1_HUMAN|.	G|D	350;197|197	ENSP00000274353:E350G;ENSP00000428240:E197G|.	ENSP00000274353:E350G|ENSP00000405681:N197D	E|N	+|+	2|1	0|0	BHMT|BHMT	78462523|78462523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.287000|9.287000	0.95975|0.95975	2.117000|2.117000	0.64856|0.64856	0.533000|0.533000	0.62120|0.62120	GAA|AAT	BHMT	-	superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT	ENSG00000145692		0.468	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHMT	HGNC	protein_coding	OTTHUMT00000226961.1	-	0	42	0	A	NM_001713		78426767	1	tier1	-	no_errors	ENST00000274353	ensembl	human	known	74_37	missense	11.76	30	4	SNP	1.000	G	G	78426767	A	G	78426767	3	3	108	1	0	0	0	0	1	0	0	0	1427	246	9	4	1079	4	BHMT	5	78426767	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	16600182	78426767	102488493	50	29583											
ANKRD32	84250	genome.wustl.edu	37	chr5	94022349	94022349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttcaaatgtttgttgcaGaggcagtctttaaaaagttg	11	14	11	5	0	2	1	1	0	1	1	2	1	2	1	0	2	1	6	0	2	4	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:94022349G>C	ENST00000265140.5	+	16	2466	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	683						centrosome (GO:0005813)|nucleus (GO:0005634)		p.E47Q(1)|p.E683Q(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTTTGTTGCAGAGGCAGTCTT	0.393																																																	2	Substitution - Missense(2)	lung(2)											148	148	148					5																	94022349		2203	4300	6503	SO:0001583	missense	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2047G>C	5.37:g.94022349G>C	ENSP00000265140:p.Glu683Gln		B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E683Q	ENST00000265140.5	37	c.2047	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820831	0.90873	.	.	ENSG00000133302	ENST00000265140	T	0.55588	0.51	5.63	5.63	0.86233	.	0.179631	0.50627	D	0.000119	T	0.67915	0.2944	L	0.47716	1.5	0.45515	D	0.998477	D	0.89917	1.0	D	0.68765	0.96	T	0.68383	-0.5423	10	0.72032	D	0.01	.	19.6448	0.95771	0.0:0.0:1.0:0.0	.	683	Q9BQI6	ANR32_HUMAN	Q	683	ENSP00000265140:E683Q	ENSP00000265140:E683Q	E	+	1	0	ANKRD32	94048105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.767000	0.85331	2.798000	0.96311	0.655000	0.94253	GAG	ANKRD32	-	NULL	ENSG00000133302		0.393	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	-	0	39	0	G	NM_032290		94022349	1	tier1	-	no_errors	ENST00000265140	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	C	C	94022349	G	C	94022349	3	2	108	1	0	0	0	0	1	0	0	0	660	943	33	5	2105	5	ANKRD32	5	94022349	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	15595582	94022349	86892911	51	29584											
ST8SIA4	7903	genome.wustl.edu	37	chr5	100222259	100222259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaaaactgctcttgacCactgacacatctcgttctgc	9	12	7	13	1	3	2	0	2	3	0	4	2	3	2	1	1	3	3	1	1	2	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:100222259C>T	ENST00000231461.5	-	3	601	c.291G>A	c.(289-291)gtG>gtA	p.V97V	ST8SIA4_ENST00000451528.2_Silent_p.V97V|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	97					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TGCTCTTGACCACTGACACAT	0.413																																																	0													127	115	119					5																	100222259		2203	4300	6503	SO:0001819	synonymous_variant	0			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.291G>A	5.37:g.100222259C>T			A8KA07|G3V104|Q8N1F4|Q92693	Silent	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.V97	ENST00000231461.5	37	c.291	CCDS4091.1	5																																																																																			ST8SIA4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000113532		0.413	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3	-	0	21	0	C	NM_005668		100222259	-1	tier1	-	no_errors	ENST00000231461	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.998	T	T	100222259	C	T	100222259	2	4	108	1	0	0	0	0	0	0	0	1	15281	581	21	3		3	ST8SIA4	5	100222259	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	6199910	100222259	80693001	52	29585											
FNIP1	96459	genome.wustl.edu	37	chr5	131008447	131008447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaattactgtgcctggcaTaacgatggcttcatcttctc	9	14	8	10	1	3	0	1	0	2	0	4	1	3	0	1	2	3	3	1	2	3	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:131008447T>C	ENST00000510461.1	-	14	1785	c.1690A>G	c.(1690-1692)Atg>Gtg	p.M564V	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.M519V|FNIP1_ENST00000307968.7_Missense_Mutation_p.M536V	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	564					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GTGCCTGGCATAACGATGGCT	0.363																																																	0													148	136	140					5																	131008447		2203	4300	6503	SO:0001583	missense	0			DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1690A>G	5.37:g.131008447T>C	ENSP00000421985:p.Met564Val		D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	NULL	p.M564V	ENST00000510461.1	37	c.1690	CCDS34227.1	5	.	.	.	.	.	.	.	.	.	.	T	16.92	3.255029	0.59321	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.11712	2.75;2.75;2.75	5.83	5.83	0.93111	.	.	.	.	.	T	0.23806	0.0576	L	0.36672	1.1	0.80722	D	1	D;D;B	0.58268	0.982;0.982;0.041	D;D;B	0.68943	0.961;0.961;0.054	T	0.00597	-1.1652	9	0.41790	T	0.15	-7.6332	16.2041	0.82108	0.0:0.0:0.0:1.0	.	564;536;564	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	V	536;519;324;564	ENSP00000309266:M536V;ENSP00000310453:M519V;ENSP00000421985:M564V	ENSP00000310453:M519V	M	-	1	0	FNIP1	131036346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.219000	0.72066	0.533000	0.62120	ATG	FNIP1	-	NULL	ENSG00000217128		0.363	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP1	HGNC	protein_coding	OTTHUMT00000370077.1	-	0	103	0	T	NM_133372		131008447	-1	tier1	-	no_errors	ENST00000510461	ensembl	human	known	74_37	missense	26.92	76	28	SNP	1.000	C	C	131008447	T	C	131008447	3	2	108	1	0	0	0	0	1	0	0	0	5997	1406	49	4	1830	4	FNIP1	5	131008447	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	30786188	131008447	49906813	53	29586											
C5orf24	134553	genome.wustl.edu	37	chr5	134190864	134190864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgatctggtaagcgtggcCggccttcgggaaccaccaaa	10	6	12	13	4	1	0	0	0	1	0	2	2	1	1	5	4	2	1	5	4	3	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:134190864C>T	ENST00000394976.3	+	2	502	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	C5orf24_ENST00000504727.1_Missense_Mutation_p.R92W|C5orf24_ENST00000435259.2_Missense_Mutation_p.R92W|C5orf24_ENST00000338051.4_Missense_Mutation_p.R92W	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	92								p.R92W(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAGCGTGGCCGGCCTTCGGG	0.478																																																	1	Substitution - Missense(1)	endometrium(1)											71	81	77					5																	134190864		2203	4300	6503	SO:0001583	missense	0			BC053677	CCDS4179.1, CCDS75307.1	5q31.1	2008-02-05			ENSG00000181904	ENSG00000181904			26746	protein-coding gene	gene with protein product						12477932	Standard	NM_152409		Approved	FLJ37562	uc003kzz.3	Q7Z6I8	OTTHUMG00000129121	ENST00000394976.3:c.274C>T	5.37:g.134190864C>T	ENSP00000378427:p.Arg92Trp		D3DQA7|Q86Y53|Q8N1T9	Missense_Mutation	SNP	NULL	p.R92W	ENST00000394976.3	37	c.274	CCDS4179.1	5	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406081	0.62288	.	.	ENSG00000181904	ENST00000338051;ENST00000394976;ENST00000504727;ENST00000435259	.	.	.	5.98	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67745	-0.5591	9	0.87932	D	0	-7.6865	13.8944	0.63761	0.2579:0.7421:0.0:0.0	.	92;92	Q7Z6I8-2;Q7Z6I8	.;CE024_HUMAN	W	92	.	ENSP00000337044:R92W	R	+	1	2	C5orf24	134218763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.231000	0.51294	2.838000	0.97847	0.655000	0.94253	CGG	C5orf24	-	NULL	ENSG00000181904		0.478	C5orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf24	HGNC	protein_coding	OTTHUMT00000251167.1	-	0	35	0	C	NM_152409		134190864	1	tier1	-	no_errors	ENST00000338051	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	T	T	134190864	C	T	134190864	3	4	108	1	0	0	0	0	1	0	0	0	2294	643	23	1	276	1	C5orf24	5	134190864	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	3182417	134190864	46724396	54	29587											
PCDHB11	56125	genome.wustl.edu	37	chr5	140580848	140580848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgcacctgcccctcGcctccctggtctccatcaac	6	8	7	20	1	2	0	1	0	1	0	5	1	3	1	7	2	3	1	7	2	1	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:140580848G>T	ENST00000354757.3	+	1	1501	c.1501G>T	c.(1501-1503)Gcc>Tcc	p.A501S	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A136S	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.647																																																	0													112	119	117					5																	140580848		2203	4300	6503	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1501G>T	5.37:g.140580848G>T	ENSP00000346802:p.Ala501Ser		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A501S	ENST00000354757.3	37	c.1501	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	g	1.462	-0.562262	0.03939	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01192	5.2;5.2	2.51	-1.27	0.09347	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00524	0.0017	N	0.00652	-1.29	0.20403	N	0.999907	B	0.28128	0.201	B	0.40864	0.342	T	0.48281	-0.9049	9	0.02654	T	1	.	5.1843	0.15176	0.1172:0.0:0.4342:0.4486	.	501	Q9Y5F2	PCDBB_HUMAN	S	136;501	ENSP00000440344:A136S;ENSP00000346802:A501S	ENSP00000346802:A501S	A	+	1	0	PCDHB11	140561032	0.000000	0.05858	0.006000	0.13384	0.174000	0.22865	-1.836000	0.01690	-0.042000	0.13535	0.298000	0.19748	GCC	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197479		0.647	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	-	0	151	0	G	NM_018931		140580848	1	tier1	-	no_errors	ENST00000354757	ensembl	human	known	74_37	missense	25.97	113	40	SNP	0.782	T	T	140580848	G	T	140580848	3	4	108	1	0	0	0	0	1	0	0	0	11575	1087	38	2	1503	2	PCDHB11	5	140580848	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	6389984	140580848	40334412	55	29588											
RASGEF1C	255426	genome.wustl.edu	37	chr5	179545653	179545653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagcggtgggccgcccCgcgcagggctgtcctgtagt	4	6	18	13	4	0	0	0	0	0	0	1	1	1	1	4	4	1	3	4	4	1	1	rs146808625		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr5:179545653C>T	ENST00000393371.2	-	9	1335	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.G347R|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.G196R|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	347	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGCCGCCCCGCGCAGGGCT	0.677																																																	0								C	ARG/GLY	2,4404	4.2+/-10.8	0,2,2201	56	65	62		1039	4.2	0.3	5	dbSNP_134	62	1,8599		0,1,4299	no	missense	RASGEF1C	NM_175062.3	125	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	347/467	179545653	3,13003	2203	4300	6503	SO:0001583	missense	0			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1039G>A	5.37:g.179545653C>T	ENSP00000377037:p.Gly347Arg		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G347R	ENST00000393371.2	37	c.1039	CCDS4452.1	5	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383828	0.61845	4.54E-4	1.16E-4	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.28895	1.59;1.59;1.59	4.18	4.18	0.49190	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.057197	0.64402	D	0.000001	T	0.27832	0.0685	L	0.31157	0.91	0.58432	D	0.999997	P	0.46784	0.884	P	0.45195	0.473	T	0.02885	-1.1098	10	0.30078	T	0.28	.	15.9577	0.79898	0.0:1.0:0.0:0.0	.	347	Q8N431	RGF1C_HUMAN	R	347;347;196	ENSP00000354963:G347R;ENSP00000377037:G347R;ENSP00000429114:G196R	ENSP00000354963:G347R	G	-	1	0	RASGEF1C	179478259	1.000000	0.71417	0.274000	0.24659	0.143000	0.21401	6.952000	0.75989	2.268000	0.75426	0.313000	0.20887	GGG	RASGEF1C	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000146090		0.677	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2		0	66	0	C	NM_175062		179545653	-1			no_errors	ENST00000361132	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.999	T	T	179545653	C	T	179545653	3	4	108	1	0	0	0	0	1	0	0	0	13116	652	23	1	381	1	RASGEF1C	5	179545653	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	38964805	179545653	1369607	56	29589											
SCAND3	114821	genome.wustl.edu	37	chr6	28547054	28547054	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaattattctcaccattaTcttgaagtgggtgtggctct	9	16	8	8	0	3	1	1	1	3	0	4	1	3	1	1	2	0	1	1	2	5	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:28547054T>A	ENST00000452236.2	-	2	1180	c.563A>T	c.(562-564)gAt>gTt	p.D188V	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTCACCATTATCTTGAAGTGG	0.408																																																	0													163	172	169					6																	28547054		2203	4300	6503	SO:0001583	missense	0																														ENST00000452236.2:c.563A>T	6.37:g.28547054T>A	ENSP00000395259:p.Asp188Val			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.D188V	ENST00000452236.2	37	c.563	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	T	13.16	2.153614	0.38021	.	.	ENSG00000232040	ENST00000452236	T	0.01455	4.87	3.66	2.47	0.30058	.	.	.	.	.	T	0.00552	0.0018	N	0.19112	0.55	0.43936	D	0.996598	P	0.42039	0.769	B	0.37346	0.247	T	0.67929	-0.5543	9	0.87932	D	0	.	5.9878	0.19444	0.0:0.1257:0.0:0.8743	.	188	Q6R2W3	SCND3_HUMAN	V	188	ENSP00000395259:D188V	ENSP00000395259:D188V	D	-	2	0	SCAND3	28655033	0.934000	0.31675	1.000000	0.80357	0.949000	0.60115	0.989000	0.29629	0.415000	0.25817	0.374000	0.22700	GAT	SCAND3	-	NULL	ENSG00000232040		0.408	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	-	0	81	0	T			28547054	-1	tier1	-	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	A	A	28547054	T	A	28547054	3	1	108	1	0	0	0	0	1	0	0	0	13921	1435	50	5	3426	5	SCAND3	6	28547054	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09		28547054	142568013	57	29590											
C6orf106	64771	genome.wustl.edu	37	chr6	34574629	34574629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaagatgacagctgctgCgttactcctaaaagtccacc	13	9	7	12	1	1	2	1	1	0	1	3	2	3	2	3	0	4	3	3	0	5	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:34574629C>T	ENST00000374023.3	-	4	807	c.564G>A	c.(562-564)acG>acA	p.T188T	C6orf106_ENST00000374026.3_Silent_p.T122T|C6orf106_ENST00000374021.1_Silent_p.T114T	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	188										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						ACAGCTGCTGCGTTACTCCTA	0.458																																																	0													78	69	72					6																	34574629		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.564G>A	6.37:g.34574629C>T			B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	superfamily_UBA-like	p.T188	ENST00000374023.3	37	c.564	CCDS4796.1	6																																																																																			C6orf106	-	NULL	ENSG00000196821		0.458	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf106	HGNC	protein_coding	OTTHUMT00000040251.1		0	79	0	C	NM_022758		34574629	-1			no_errors	ENST00000374023	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.999	T	T	34574629	C	T	34574629	2	4	108	1	0	0	0	0	0	0	0	1	2326	755	27	1		1	C6orf106	6	34574629	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	6027575	34574629	136540438	58	29591											
MDGA1	266727	genome.wustl.edu	37	chr6	37614970	37614970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcggatgctgagtctgtaGttgagcacagggtcgacagc	8	9	16	8	2	1	2	0	2	1	0	2	4	1	3	0	3	3	4	0	3	1	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:37614970G>T	ENST00000434837.3	-	10	3203	c.2025C>A	c.(2023-2025)aaC>aaA	p.N675K	MDGA1_ENST00000297153.7_Missense_Mutation_p.N678K|MDGA1_ENST00000505425.1_Missense_Mutation_p.N675K|MDGA1_ENST00000510077.1_5'UTR	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	675	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGAGTCTGTAGTTGAGCACAG	0.637																																																	0													25	27	26					6																	37614970		1972	4149	6121	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2025C>A	6.37:g.37614970G>T	ENSP00000402584:p.Asn675Lys		A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.N678K	ENST00000434837.3	37	c.2034	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451195	0.43531	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.54279	0.58;0.58;0.58	5.08	5.08	0.68730	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.119358	0.36740	N	0.002427	T	0.09992	0.0245	N	0.02011	-0.69	0.40359	D	0.979223	B	0.02656	0.0	B	0.01281	0.0	T	0.22382	-1.0218	10	0.05721	T	0.95	.	13.9531	0.64131	0.0:0.1642:0.8358:0.0	.	675	Q8NFP4	MDGA1_HUMAN	K	675;678;675	ENSP00000402584:N675K;ENSP00000297153:N678K;ENSP00000422042:N675K	ENSP00000297153:N678K	N	-	3	2	MDGA1	37722948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.643000	0.54374	2.362000	0.80069	0.655000	0.94253	AAC	MDGA1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000112139		0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0	42	0	G			37614970	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T	T	37614970	G	T	37614970	3	4	108	1	0	0	0	0	1	0	0	0	9444	1020	36	3	874	3	MDGA1	6	37614970	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	3040341	37614970	133500097	59	29592											
MDN1	23195	genome.wustl.edu	37	chr6	90504332	90504333	+	Frame_Shift_Del	DEL	AC	AC	-																															catggcttctgaggagagggAcacacacactccagtcccag																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:90504332_90504333delAC	ENST00000369393.3	-	3	632_633	c.517_518delGT	c.(517-519)gtcfs	p.V173fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.V173fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	173					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAGGAGAGGGACACACACACTC	0.54																																																	0																																										SO:0001589	frameshift_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.517_518delGT	6.37:g.90504340_90504341delAC	ENSP00000358400:p.Val173fs		O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.V173fs	ENST00000369393.3	37	c.518_517	CCDS5024.1	6																																																																																			MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin	ENSG00000112159		0.54	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2		0	31	0	AC			90504333	-1	tier1		no_errors	ENST00000369393	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.998:1.000	-	-	90504333	AC	-	90504332	7	5	108	1	0	1	0	1	0	0	0	0	9453	275	10	0	16672	0	MDN1	6	90504332	Frame_Shift_Del	DEL	AC	TCGA-LN-A49W-01A-11D-A27G-09	52889362	90504332	80610735	60	29593											
FBXL4	26235	genome.wustl.edu	37	chr6	99374651	99374651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattccacatagtataggAcatactattctcacttccat	14	13	3	11	0	1	0	1	0	1	0	4	1	3	1	2	1	1	1	2	1	6	8			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:99374651A>G	ENST00000369244.2	-	4	642	c.214T>C	c.(214-216)Tcc>Ccc	p.S72P	FBXL4_ENST00000229971.1_Missense_Mutation_p.S72P	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	72					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATAGTATAGGACATACTATTC	0.433																																																	0													182	160	167					6																	99374651		2203	4300	6503	SO:0001583	missense	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"F-boxes / Leucine-rich repeats"	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.214T>C	6.37:g.99374651A>G	ENSP00000358247:p.Ser72Pro		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.S72P	ENST00000369244.2	37	c.214	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375699	0.82682	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.25749	1.78;1.78	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74258	2.255	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.48490	-0.9031	10	0.87932	D	0	.	15.9507	0.79835	1.0:0.0:0.0:0.0	.	72	Q9UKA2	FBXL4_HUMAN	P	72	ENSP00000358247:S72P;ENSP00000229971:S72P	ENSP00000229971:S72P	S	-	1	0	FBXL4	99481372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.232000	0.73038	0.528000	0.53228	TCC	FBXL4	-	NULL	ENSG00000112234		0.433	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	-	0	49	0	A			99374651	-1	tier1	-	no_errors	ENST00000229971	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	G	G	99374651	A	G	99374651	3	3	108	1	0	0	0	0	1	0	0	0	5743	275	10	4	1679	4	FBXL4	6	99374651	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	8870319	99374651	71740416	61	29594											
SMPDL3A	10924	genome.wustl.edu	37	chr6	123116827	123116827	+	Frame_Shift_Del	DEL	T	T	-																															ttgtgtaatcaacaggacagTtttggcatgtgactgactta																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:123116827delT	ENST00000368440.4	+	2	295	c.118delT	c.(118-120)tttfs	p.F40fs	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	40					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AACAGGACAGTTTTGGCATGT	0.378																																																	0													113	99	104					6																	123116827		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"acid sphingomyelinase-like phosphodiesterase 3a"	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.118delT	6.37:g.123116827delT	ENSP00000357425:p.Phe40fs		B7Z729|Q8WV13	Frame_Shift_Del	DEL	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.W41fs	ENST00000368440.4	37	c.118	CCDS5128.1	6																																																																																			SMPDL3A	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	ENSG00000172594		0.378	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1		0	66	0	T	NM_006714		123116827	1	tier1		no_errors	ENST00000368440	ensembl	human	known	74_37	frame_shift_del	5.88	32	2	DEL	1.000	-	-	123116827	T	-	123116827	7	5	108	1	0	1	0	1	0	0	0	0	14853	1725	60	0	124	0	SMPDL3A	6	123116827	Frame_Shift_Del	DEL	T	TCGA-LN-A49W-01A-11D-A27G-09	23742176	123116827	47998240	62	29595											
TRDN	10345	genome.wustl.edu	37	chr6	123576225	123576225	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttacgtaattcaagattaCcttttgtcacattgtgtaat	12	17	6	6	1	2	1	2	0	0	1	2	1	2	1	1	0	2	3	1	0	5	8			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr6:123576225C>A	ENST00000398178.3	-	37	1973		c.e37+1		TRDN_ENST00000334268.4_Splice_Site	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTCAAGATTACCTTTTGTCAC	0.224																																																	0													39	37	38					6																	123576225		1519	3399	4918	SO:0001630	splice_region_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1951+1G>T	6.37:g.123576225C>A			A5D6W5|F5H2W7|Q6NSB8	Splice_Site	SNP	-	e37+1	ENST00000398178.3	37	c.1951+1	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	16.07	3.018662	0.54576	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6074	0.56531	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRDN	123617924	1.000000	0.71417	0.998000	0.56505	0.844000	0.47949	1.234000	0.32660	2.402000	0.81655	0.655000	0.94253	.	TRDN	-	-	ENSG00000186439		0.224	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		-	0	65	0	C		Intron	123576225	-1	tier1	-	no_errors	ENST00000398178	ensembl	human	known	74_37	splice_site	14.71	29	5	SNP	1.000	A	A	123576225	C	A	123576225	5	1	108	1	0	0	0	0	0	0	1	0	16516	521	18	3	257	3	TRDN	6	123576225	Splice_Site	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	459398	123576225	47538842	63	29596											
VPS41	27072	genome.wustl.edu	37	chr7	38766586	38766586	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgaagggcttagctgCatctggcgaggagggcagag	9	6	17	9	2	1	2	0	1	1	1	1	4	1	3	0	4	2	5	0	4	2	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:38766586C>G	ENST00000310301.4	-	28	2461	c.2407G>C	c.(2407-2409)Gca>Cca	p.A803P	VPS41_ENST00000395969.2_Missense_Mutation_p.A778P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	803					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GGCTTAGCTGCATCTGGCGAG	0.507																																																	0													100	82	88					7																	38766586		2203	4300	6503	SO:0001583	missense	0			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"vacuolar protein sorting 41 (yeast homolog)", "vacuolar protein sorting 41 (yeast)"			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.2407G>C	7.37:g.38766586C>G	ENSP00000309457:p.Ala803Pro		E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING	p.A803P	ENST00000310301.4	37	c.2407	CCDS5457.1	7	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453414	0.43531	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	T;T	0.68181	-0.31;-0.31	5.32	5.32	0.75619	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.147450	0.64402	D	0.000010	T	0.53029	0.1771	N	0.17474	0.49	0.50039	D	0.999848	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.45071	-0.9286	10	0.28530	T	0.3	-5.5398	18.5966	0.91231	0.0:1.0:0.0:0.0	.	803;778;803	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	P	803;778	ENSP00000309457:A803P;ENSP00000379297:A778P	ENSP00000309457:A803P	A	-	1	0	VPS41	38733111	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.399000	0.66314	2.481000	0.83766	0.561000	0.74099	GCA	VPS41	-	pirsf_VPS41,pfscan_Znf_RING	ENSG00000006715		0.507	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS41	HGNC	protein_coding	OTTHUMT00000226986.3		0	23	0	C			38766586	-1			no_errors	ENST00000310301	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	G	G	38766586	C	G	38766586	3	3	108	1	0	0	0	0	1	0	0	0	17259	710	25	5	165	5	VPS41	7	38766586	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09		38766586	120372077	64	29597											
ABCA13	154664	genome.wustl.edu	37	chr7	48308594	48308594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcttttcctgaggaatctCcttgttttgaagaaaacatg	11	15	8	7	0	1	3	0	2	1	1	3	4	2	4	2	1	2	2	2	1	5	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:48308594C>A	ENST00000435803.1	+	16	2047	c.2023C>A	c.(2023-2025)Cct>Act	p.P675T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	675					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAGGAATCTCCTTGTTTTGA	0.289																																																	0													39	37	38					7																	48308594		1789	4054	5843	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"ATP binding cassette transporters / subfamily A"	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2023C>A	7.37:g.48308594C>A	ENSP00000411096:p.Pro675Thr		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P675T	ENST00000435803.1	37	c.2023	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150616	0.57151	.	.	ENSG00000179869	ENST00000435803	D	0.87650	-2.28	4.16	4.16	0.48862	.	0.137778	0.33631	N	0.004712	D	0.90494	0.7022	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	D	0.91316	0.5078	10	0.87932	D	0	.	12.2967	0.54852	0.0:1.0:0.0:0.0	.	675	Q86UQ4	ABCAD_HUMAN	T	675	ENSP00000411096:P675T	ENSP00000411096:P675T	P	+	1	0	ABCA13	48279140	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	1.550000	0.36223	2.024000	0.59613	0.491000	0.48974	CCT	ABCA13	-	NULL	ENSG00000179869		0.289	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0	56	0	C	NM_152701		48308594	1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.993	A	A	48308594	C	A	48308594	3	1	108	1	0	0	0	0	1	0	0	0	31	855	30	3	1914	3	ABCA13	7	48308594	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	9542008	48308594	110830069	65	29598											
EGFR	1956	genome.wustl.edu	37	chr7	55273092	55273092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgggcaaccccgagtatCtcaacactgtccagcccacc	10	6	8	17	1	1	0	1	0	1	0	3	1	2	0	5	1	3	2	5	1	3	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:55273092C>T	ENST00000275493.2	+	28	3592	c.3415C>T	c.(3415-3417)Ctc>Ttc	p.L1139F	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L1086F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1139					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCCCGAGTATCTCAACACTGT	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0													108	87	94					7																	55273092		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3415C>T	7.37:g.55273092C>T	ENSP00000275493:p.Leu1139Phe		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L1139F	ENST00000275493.2	37	c.3415	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799278	0.70567	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.80653	-1.4;-1.38	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.72624	2.21	0.58432	D	0.999994	D	0.63046	0.992	P	0.62382	0.901	D	0.89321	0.3640	10	0.87932	D	0	.	18.0405	0.89317	0.0:1.0:0.0:0.0	.	1139	P00533	EGFR_HUMAN	F	1009;1139;1086	ENSP00000275493:L1139F;ENSP00000395243:L1086F	ENSP00000275493:L1139F	L	+	1	0	EGFR	55240586	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.524000	0.67105	2.663000	0.90544	0.558000	0.71614	CTC	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000146648		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0	25	0	C	NM_005228		55273092	1	tier1	-	no_errors	ENST00000275493	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	T	T	55273092	C	T	55273092	3	4	108	1	0	0	0	0	1	0	0	0	4981	913	32	3	3789	3	EGFR	7	55273092	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	6964498	55273092	103865571	66	29599											
TECPR1	25851	genome.wustl.edu	37	chr7	97847085	97847085	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacactgtcccccggctcagGctgtggctgccctgcacttt	4	10	10	17	1	1	0	1	0	0	0	2	0	2	0	3	3	2	4	3	3	0	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:97847085G>A	ENST00000447648.2	-	25	3602	c.3303C>T	c.(3301-3303)agC>agT	p.S1101S	TECPR1_ENST00000379795.3_Silent_p.S1103S			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1101					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCGGCTCAGGCTGTGGCTGC	0.687																																																	0													12	16	15					7																	97847085		2054	4037	6091	SO:0001819	synonymous_variant	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3303C>T	7.37:g.97847085G>A			A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.S1103	ENST00000447648.2	37	c.3309	CCDS47648.1	7																																																																																			TECPR1	-	pfam_Beta-propeller_rpt_TECPR,smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.687	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1	-	0	105	0	G	NM_015395		97847085	-1	tier1	-	no_errors	ENST00000379795	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.997	A	A	97847085	G	A	97847085	2	1	108	1	0	0	0	0	0	0	0	1	15790	1194	42	3		3	TECPR1	7	97847085	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	42573993	97847085	61291578	67	29600											
TECPR1	25851	genome.wustl.edu	37	chr7	97870204	97870204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagaccacgctgactcccaCcgagatgtgcatgaccccgt	9	6	9	17	3	0	4	0	2	0	2	1	5	1	4	6	0	1	2	6	0	0	0			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr7:97870204C>A	ENST00000447648.2	-	8	1191	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L	TECPR1_ENST00000379795.3_Missense_Mutation_p.V298L|TECPR1_ENST00000542604.1_Missense_Mutation_p.V228L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	298					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGACTCCCACCGAGATGTGC	0.607																																																	0													33	38	36					7																	97870204		2201	4295	6496	SO:0001583	missense	0				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.892G>T	7.37:g.97870204C>A	ENSP00000404923:p.Val298Leu		A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin	p.V298L	ENST00000447648.2	37	c.892	CCDS47648.1	7	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480628	0.44044	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.36699	1.33;1.31;1.24	5.08	4.2	0.49525	.	0.251685	0.39210	N	0.001427	T	0.36608	0.0973	L	0.52759	1.655	0.35553	D	0.804068	P;P	0.39601	0.68;0.54	B;B	0.41036	0.346;0.242	T	0.53099	-0.8486	10	0.66056	D	0.02	-1.8572	12.6616	0.56817	0.0:0.92:0.0:0.08	.	228;298	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	L	298;298;228	ENSP00000404923:V298L;ENSP00000369121:V298L;ENSP00000441121:V228L	ENSP00000369121:V298L	V	-	1	0	TECPR1	97708140	1.000000	0.71417	0.107000	0.21349	0.206000	0.24218	5.771000	0.68881	1.155000	0.42497	0.505000	0.49811	GTG	TECPR1	-	smart_Beta-propeller_rpt_TECPR	ENSG00000205356		0.607	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TECPR1	HGNC	protein_coding	OTTHUMT00000334661.1		0	18	0	C	NM_015395		97870204	-1			no_errors	ENST00000379795	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.994	A	A	97870204	C	A	97870204	3	1	108	1	0	0	0	0	1	0	0	0	15790	507	18	3	2681	3	TECPR1	7	97870204	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	23119	97870204	61268459	68	29601											
TNKS	8658	genome.wustl.edu	37	chr8	9592385	9592385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtagcatggagcagAtccaactaaaaagaacagag	16	9	9	7	0	1	3	0	0	1	3	2	4	2	4	1	1	4	3	1	1	6	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:9592385A>G	ENST00000310430.6	+	16	2350	c.2324A>G	c.(2323-2325)gAt>gGt	p.D775G	TNKS_ENST00000518281.1_Missense_Mutation_p.D538G	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	775					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CATGGAGCAGATCCAACTAAA	0.383																																																	0													75	75	75					8																	9592385		2203	4300	6503	SO:0001583	missense	0			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"Poly (ADP-ribose) polymerases", "Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2324A>G	8.37:g.9592385A>G	ENSP00000311579:p.Asp775Gly		O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.D775G	ENST00000310430.6	37	c.2324	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632846	0.87660	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.72835	-0.69;-0.69	5.7	5.7	0.88788	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85951	0.1464	10	0.87932	D	0	.	15.971	0.80019	1.0:0.0:0.0:0.0	.	775	O95271	TNKS1_HUMAN	G	775;538	ENSP00000311579:D775G;ENSP00000429890:D538G	ENSP00000311579:D775G	D	+	2	0	TNKS	9629795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.175000	0.68902	0.533000	0.62120	GAT	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000173273		0.383	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	-	0	57	0	A	NM_003747		9592385	1	tier1	-	no_errors	ENST00000310430	ensembl	human	known	74_37	missense	12.12	28	4	SNP	1.000	G	G	9592385	A	G	9592385	3	3	108	1	0	0	0	0	1	0	0	0	16366	333	12	4	2386	4	TNKS	8	9592385	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09		9592385	136771637	69	29602											
MTUS1	57509	genome.wustl.edu	37	chr8	17532707	17532707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttacctagctctccccGgaggttaacaagttcttgag	8	12	9	12	1	3	1	0	1	3	0	4	2	3	2	3	2	3	4	3	2	4	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:17532707G>A	ENST00000262102.6	-	8	3117	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	MTUS1_ENST00000519263.1_Missense_Mutation_p.R911W|MTUS1_ENST00000297488.6_Missense_Mutation_p.R131W|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Missense_Mutation_p.R212W|MTUS1_ENST00000381869.3_Missense_Mutation_p.R911W|MTUS1_ENST00000400046.1_Missense_Mutation_p.R37W|MTUS1_ENST00000544260.1_Missense_Mutation_p.R110W	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	965					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGCTCTCCCCGGAGGTTAACA	0.463																																																	0													174	162	166					8																	17532707		1929	4128	6057	SO:0001583	missense	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2893C>T	8.37:g.17532707G>A	ENSP00000262102:p.Arg965Trp		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	superfamily_Ferritin-like_SF	p.R965W	ENST00000262102.6	37	c.2893	CCDS43717.1	8	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397834	0.83120	.	.	ENSG00000129422	ENST00000381869;ENST00000544260;ENST00000400046;ENST00000297488;ENST00000381861;ENST00000262102;ENST00000519263	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.91;1.28;1.28;1.28;1.28	4.61	4.61	0.57282	.	0.119890	0.64402	D	0.000020	T	0.61887	0.2383	M	0.83603	2.65	0.80722	D	1	D;P;D;D	0.89917	1.0;0.949;0.992;0.996	P;P;P;P	0.62184	0.899;0.685;0.685;0.685	T	0.69339	-0.5171	10	0.87932	D	0	-17.5251	18.0913	0.89476	0.0:0.0:1.0:0.0	.	911;965;212;131	Q9ULD2-2;Q9ULD2;Q9ULD2-6;Q9ULD2-3	.;MTUS1_HUMAN;.;.	W	911;110;37;131;212;965;911	ENSP00000371293:R911W;ENSP00000445738:R110W;ENSP00000382921:R37W;ENSP00000297488:R131W;ENSP00000371285:R212W;ENSP00000262102:R965W;ENSP00000430167:R911W	ENSP00000262102:R965W	R	-	1	2	MTUS1	17576987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.095000	0.50235	2.576000	0.86940	0.460000	0.39030	CGG	MTUS1	-	NULL	ENSG00000129422		0.463	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1	-	0	60	0	G	XM_372031		17532707	-1	tier1	-	no_errors	ENST00000262102	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	A	A	17532707	G	A	17532707	3	1	108	1	0	0	0	0	1	0	0	0	10003	1115	39	1	951	1	MTUS1	8	17532707	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	7940322	17532707	128831315	70	29603											
KCNB2	9312	genome.wustl.edu	37	chr8	73849588	73849588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgccagggatggcacGctggagtatgccccagttga	7	8	14	12	1	0	1	0	1	0	0	0	3	0	3	4	3	3	5	4	3	1	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:73849588G>A	ENST00000523207.1	+	3	2586	c.1998G>A	c.(1996-1998)acG>acA	p.T666T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGGATGGCACGCTGGAGTATG	0.567																																																	0													54	54	54					8																	73849588		2203	4300	6503	SO:0001819	synonymous_variant	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1998G>A	8.37:g.73849588G>A			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.T666	ENST00000523207.1	37	c.1998	CCDS6209.1	8																																																																																			KCNB2	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000182674		0.567	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	-	0	24	0	G	NM_004770		73849588	1	tier1	-	no_errors	ENST00000523207	ensembl	human	known	74_37	silent	36.36	7	4	SNP	0.000	A	A	73849588	G	A	73849588	2	1	108	1	0	0	0	0	0	0	0	1	8040	1074	38	1		1	KCNB2	8	73849588	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	56316881	73849588	72514434	71	29604											
KCNS2	3788	genome.wustl.edu	37	chr8	99441485	99441485	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcaacttgagagtgcCatgcgcagctgtgactttgg	11	9	12	9	1	0	2	0	2	0	1	0	3	0	2	1	1	5	3	1	1	3	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:99441485C>T	ENST00000287042.4	+	2	1628	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	KCNS2_ENST00000521839.1_Silent_p.A426A	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	426					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TTGAGAGTGCCATGCGCAGCT	0.493																																					Pancreas(138;844 2489 9202 24627)												0													115	116	116					8																	99441485		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1278C>T	8.37:g.99441485C>T			A8KAN1	Silent	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2	p.A426	ENST00000287042.4	37	c.1278	CCDS6279.1	8																																																																																			KCNS2	-	NULL	ENSG00000156486		0.493	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNS2	HGNC	protein_coding	OTTHUMT00000103134.1		0	12	0	C	NM_020697		99441485	1			no_errors	ENST00000287042	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.993	T	T	99441485	C	T	99441485	2	4	108	1	0	0	0	0	0	0	0	1	8116	581	21	3		3	KCNS2	8	99441485	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	25591897	99441485	46922537	72	29605											
NOV	4856	genome.wustl.edu	37	chr8	120430329	120430329	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gataactgtgtgttcgatggGgtcatctaccgcagtggaga	9	11	14	7	2	2	1	1	0	1	1	3	4	2	1	1	3	2	2	1	3	2	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:120430329G>C	ENST00000259526.3	+	3	569	c.342G>C	c.(340-342)ggG>ggC	p.G114G	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TGTTCGATGGGGTCATCTACC	0.488																																																	0													104	108	107					8																	120430329		2203	4300	6503	SO:0001819	synonymous_variant	0			X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"nephroblastoma overexpressed gene"			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.342G>C	8.37:g.120430329G>C				Silent	SNP	pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.G114	ENST00000259526.3	37	c.342	CCDS6328.1	8																																																																																			NOV	-	pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C	ENSG00000136999		0.488	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOV	HGNC	protein_coding	OTTHUMT00000381301.1	-	0	153	0	G	NM_002514		120430329	1	tier1	-	no_errors	ENST00000259526	ensembl	human	known	74_37	silent	7.69	96	8	SNP	0.502	C	C	120430329	G	C	120430329	2	2	108	1	0	0	0	0	0	0	0	1	10592	1219	43	5		5	NOV	8	120430329	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	20988844	120430329	25933693	73	29606											
LRRC6	23639	genome.wustl.edu	37	chr8	133595957	133595957	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttgtatttgtttgttCtctgctcctgtccgaggtag	4	18	10	9	1	1	0	0	0	1	0	4	1	3	0	3	1	2	6	3	1	3	7			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:133595957C>A	ENST00000519595.1	-	11	1308	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	LRRC6_ENST00000518642.1_Nonsense_Mutation_p.E401*|LRRC6_ENST00000250173.1_Nonsense_Mutation_p.E404*			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	404					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTTGTTTGTTCTCTGCTCCTG	0.403																																																	0													235	199	212					8																	133595957		2203	4300	6503	SO:0001587	stop_gained	0			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"leucine rich testes protein"	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1210G>T	8.37:g.133595957C>A	ENSP00000429791:p.Glu404*		Q13648|Q4G183	Nonsense_Mutation	SNP	superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom	p.E404*	ENST00000519595.1	37	c.1210		8	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936179	0.73442	.	.	ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414	.	.	.	4.57	3.62	0.41486	.	0.505413	0.21241	N	0.077816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-20.3335	9.3533	0.38151	0.2132:0.7868:0.0:0.0	.	.	.	.	X	404;144;401;404;404	.	ENSP00000250173:E404X	E	-	1	0	LRRC6	133665139	0.001000	0.12720	0.077000	0.20336	0.030000	0.12068	0.612000	0.24283	2.548000	0.85928	0.585000	0.79938	GAA	LRRC6	-	NULL	ENSG00000129295		0.403	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	LRRC6	HGNC	protein_coding	OTTHUMT00000379578.1	-	0	55	0	C	NM_012472		133595957	-1	tier1	-	no_errors	ENST00000250173	ensembl	human	known	74_37	nonsense	12.86	61	9	SNP	0.040	A	A	133595957	C	A	133595957	4	1	108	1	0	0	0	0	0	1	0	0	9051	922	32	3	198	3	LRRC6	8	133595957	Nonsense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	13165628	133595957	12768065	74	29607											
TG	7038	genome.wustl.edu	37	chr8	133899059	133899059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaatttttggtgaatgttgGccagtttaacttgtctggag	9	16	12	4	0	1	1	0	1	1	0	1	3	1	2	1	3	1	2	1	3	3	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr8:133899059G>A	ENST00000220616.4	+	9	1482	c.1442G>A	c.(1441-1443)gGc>gAc	p.G481D	TG_ENST00000377869.1_Missense_Mutation_p.G481D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	481					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAATGTTGGCCAGTTTAAC	0.473																																																	0													78	82	81					8																	133899059		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1442G>A	8.37:g.133899059G>A	ENSP00000220616:p.Gly481Asp		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.G481D	ENST00000220616.4	37	c.1442	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972891	0.53614	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66280	-0.2;-0.19	5.67	2.82	0.32997	.	0.662394	0.14581	N	0.310843	T	0.71143	0.3305	M	0.69823	2.125	0.09310	N	1	D	0.59767	0.986	P	0.56343	0.796	T	0.61272	-0.7096	10	0.72032	D	0.01	.	9.7803	0.40645	0.0:0.2427:0.4949:0.2625	.	481	P01266	THYG_HUMAN	D	481	ENSP00000367100:G481D;ENSP00000220616:G481D	ENSP00000220616:G481D	G	+	2	0	TG	133968241	1.000000	0.71417	0.590000	0.28732	0.987000	0.75469	2.270000	0.43355	0.292000	0.22492	0.557000	0.71058	GGC	TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.473	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0	53	0	G	NM_003235		133899059	1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.005	A	A	133899059	G	A	133899059	3	1	108	1	0	0	0	0	1	0	0	0	15860	1203	42	3	1476	3	TG	8	133899059	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	303102	133899059	12464963	75	29608											
SMC5	23137	genome.wustl.edu	37	chr9	72962880	72962880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaagagctggtagaaaaaAttaatgaaaaattcagcaat	22	9	7	3	0	1	3	1	1	0	2	1	3	1	3	0	1	2	3	0	1	10	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr9:72962880A>G	ENST00000361138.5	+	22	2873	c.2815A>G	c.(2815-2817)Att>Gtt	p.I939V	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	939					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GGTAGAAAAAATTAATGAAAA	0.284																																																	0													32	36	34					9																	72962880		2180	4275	6455	SO:0001583	missense	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2815A>G	9.37:g.72962880A>G	ENSP00000354957:p.Ile939Val		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	p.I939V	ENST00000361138.5	37	c.2815	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	A	17.84	3.487210	0.63962	.	.	ENSG00000198887	ENST00000361138	T	0.80566	-1.39	5.9	5.9	0.94986	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	L	0.52011	1.625	0.80722	D	1	P	0.47841	0.901	P	0.53224	0.721	T	0.80301	-0.1440	10	0.24483	T	0.36	-21.5235	16.3291	0.83001	1.0:0.0:0.0:0.0	.	939	Q8IY18	SMC5_HUMAN	V	939	ENSP00000354957:I939V	ENSP00000354957:I939V	I	+	1	0	SMC5	72152700	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.919000	0.70005	2.257000	0.74773	0.528000	0.53228	ATT	SMC5	-	pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase	ENSG00000198887		0.284	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1	-	0	56	0	A	NM_015110		72962880	1	tier1	-	no_errors	ENST00000361138	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	G	G	72962880	A	G	72962880	3	3	108	1	0	0	0	0	1	0	0	0	14831	101	4	4	2901	4	SMC5	9	72962880	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09		72962880	68250551	76	29609											
IKBKAP	8518	genome.wustl.edu	37	chr9	111659307	111659307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacatgagatgtaagtatgGataggcagtatctgaggtaa	14	12	12	3	0	1	2	0	2	1	1	1	4	1	3	0	3	1	5	0	3	6	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr9:111659307G>T	ENST00000374647.5	-	24	2820	c.2513C>A	c.(2512-2514)tCc>tAc	p.S838Y	IKBKAP_ENST00000537196.1_Missense_Mutation_p.S489Y	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	838					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTAAGTATGGATAGGCAGTA	0.423																																																	0													141	131	134					9																	111659307		2203	4300	6503	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"Elongator acetyltransferase complex subunits"	5959	protein-coding gene	gene with protein product	"elongator acetyltransferase complex subunit 1"	603722	"dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2513C>A	9.37:g.111659307G>T	ENSP00000363779:p.Ser838Tyr		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.S838Y	ENST00000374647.5	37	c.2513	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921921	0.33908	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.29142	1.58;1.58	5.65	4.71	0.59529	.	0.193054	0.45867	D	0.000323	T	0.56978	0.2022	M	0.85859	2.78	0.09310	N	0.999994	D	0.59767	0.986	P	0.62089	0.898	T	0.54754	-0.8246	10	0.62326	D	0.03	-4.1094	15.8046	0.78483	0.0:0.1486:0.8514:0.0	.	838	O95163	ELP1_HUMAN	Y	838;489	ENSP00000363779:S838Y;ENSP00000439367:S489Y	ENSP00000363779:S838Y	S	-	2	0	IKBKAP	110699128	1.000000	0.71417	0.168000	0.22838	0.237000	0.25408	5.367000	0.66127	2.660000	0.90430	0.467000	0.42956	TCC	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.423	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1		0	93	0	G			111659307	-1			no_errors	ENST00000374647	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.192	T	T	111659307	G	T	111659307	3	4	108	1	0	0	0	0	1	0	0	0	7637	1174	41	3	1541	3	IKBKAP	9	111659307	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	38696427	111659307	29554124	77	29610											
PITRM1	10531	genome.wustl.edu	37	chr10	3197875	3197875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtgcctgcttctcgtgaTacttgtcatctggcctcatc	4	15	8	14	1	4	1	2	1	2	0	6	1	4	1	3	1	3	1	3	1	1	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr10:3197875T>C	ENST00000224949.4	-	14	1563	c.1529A>G	c.(1528-1530)tAt>tGt	p.Y510C	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.Y68C|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.Y478C|PITRM1_ENST00000380989.2_Missense_Mutation_p.Y510C			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	510					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CTTCTCGTGATACTTGTCATC	0.488																																																	0													119	121	120					10																	3197875		2076	4226	6302	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"PreP peptidasome"		"pitrilysin metalloproteinase 1"			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1529A>G	10.37:g.3197875T>C	ENSP00000224949:p.Tyr510Cys		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	p.Y510C	ENST00000224949.4	37	c.1529	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	t	13.45	2.241209	0.39598	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.37	5.37	0.77165	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.110450	0.64402	D	0.000005	T	0.54078	0.1836	M	0.86740	2.835	0.46113	D	0.998874	D;D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.79108	0.827;0.987;0.986;0.992;0.992;0.992	T	0.61257	-0.7099	10	0.72032	D	0.01	.	11.1467	0.48434	0.1381:0.0:0.0:0.8619	.	503;478;510;510;510;503	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	C	510;503;510;68;478	ENSP00000224949:Y510C;ENSP00000370377:Y510C;ENSP00000370382:Y68C;ENSP00000401201:Y478C	ENSP00000224949:Y510C	Y	-	2	0	PITRM1	3187875	1.000000	0.71417	0.929000	0.37066	0.085000	0.17905	3.213000	0.51153	2.164000	0.68074	0.460000	0.39030	TAT	PITRM1	-	pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_LuxS/M16	ENSG00000107959		0.488	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	-	0	44	0	T			3197875	-1	tier1	-	no_errors	ENST00000380989	ensembl	human	known	74_37	missense	26.09	17	6	SNP	0.988	C	C	3197875	T	C	3197875	3	2	108	1	0	0	0	0	1	0	0	0	11992	1406	49	4	1640	4	PITRM1	10	3197875	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09		3197875	132336872	78	29611											
CCDC6	8030	genome.wustl.edu	37	chr10	61552831	61552831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggcggcgtgggccgtttGaatttgtcaggactgttgct	5	12	17	7	3	1	1	1	1	0	0	1	3	1	3	1	5	1	3	1	5	1	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr10:61552831G>C	ENST00000263102.6	-	9	1500	c.1269C>G	c.(1267-1269)ttC>ttG	p.F423L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	423						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGGGCCGTTTGAATTTGTCAG	0.597			T	RET	NSCLC																																			Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	0													156	147	150					10																	61552831		2203	4300	6503	SO:0001583	missense	0			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"	601985	"DNA segment on chromosome 10 (unique) 170"	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1269C>G	10.37:g.61552831G>C	ENSP00000263102:p.Phe423Leu		Q15250|Q6GSG7	Missense_Mutation	SNP	pfam_DUF2046	p.F423L	ENST00000263102.6	37	c.1269	CCDS7257.1	10	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779410	0.49891	.	.	ENSG00000108091	ENST00000263102	T	0.53640	0.61	5.39	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	L	0.56769	1.78	0.58432	D	0.999996	P	0.49447	0.924	P	0.60682	0.878	T	0.57985	-0.7716	10	0.72032	D	0.01	-14.9365	8.982	0.35970	0.3248:0.0:0.6752:0.0	.	423	Q16204	CCDC6_HUMAN	L	423	ENSP00000263102:F423L	ENSP00000263102:F423L	F	-	3	2	CCDC6	61222837	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.848000	0.48278	0.739000	0.32628	0.563000	0.77884	TTC	CCDC6	-	NULL	ENSG00000108091		0.597	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC6	HGNC	protein_coding	OTTHUMT00000048176.2	-	0	106	0	G	NM_005436		61552831	-1	tier1	-	no_errors	ENST00000263102	ensembl	human	known	74_37	missense	6.42	102	7	SNP	1.000	C	C	61552831	G	C	61552831	3	2	108	1	0	0	0	0	1	0	0	0	2837	1281	45	5	159	5	CCDC6	10	61552831	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	58354956	61552831	73981916	79	29612											
NUP160	23279	genome.wustl.edu	37	chr11	47809748	47809748	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatacttgaaggcaagcccTtcaaagactggcgttaaggg	13	8	11	9	1	1	2	1	1	0	1	1	2	1	2	1	3	2	2	1	3	5	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:47809748T>C	ENST00000378460.2	-	31	3778	c.3732A>G	c.(3730-3732)gaA>gaG	p.E1244E	NUP160_ENST00000530326.1_Silent_p.E1130E	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1244					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGGCAAGCCCTTCAAAGACTG	0.403																																																	0													48	46	46					11																	47809748		2201	4298	6499	SO:0001819	synonymous_variant	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3732A>G	11.37:g.47809748T>C			B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	pfam_Nucleoporin_Nup160	p.E1244	ENST00000378460.2	37	c.3732	CCDS31484.1	11																																																																																			NUP160	-	NULL	ENSG00000030066		0.403	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2		0	35	0	T	NM_015231		47809748	-1			no_errors	ENST00000378460	ensembl	human	known	74_37	silent	12.50	21	3	SNP	1.000	C	C	47809748	T	C	47809748	2	2	108	1	0	0	0	0	0	0	0	1	10796	1606	56	4		4	NUP160	11	47809748	Silent	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09		47809748	87196768	80	29613											
NRXN2	9379	genome.wustl.edu	37	chr11	64435121	64435121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccccttcctttgccaggcGggatagttccaatttgaagt	7	13	10	11	1	0	1	0	1	0	0	3	2	3	2	5	2	1	1	5	2	3	5	rs142409712		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:64435121G>A	ENST00000377551.1	-	8	1610	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NRXN2_ENST00000265459.6_Missense_Mutation_p.R467C|NRXN2_ENST00000409571.1_Missense_Mutation_p.R460C|NRXN2_ENST00000377559.3_Missense_Mutation_p.R436C			Q9P2S2	NRX2A_HUMAN	neurexin 2	467	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTTGCCAGGCGGGATAGTTCC	0.557																																																	0								G	CYS/ARG,CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	64	69	67		1399,1306	3.6	1	11	dbSNP_134	67	0,8594		0,0,4297	no	missense,missense	NRXN2	NM_015080.3,NM_138732.2	180,180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	467/1713,436/1643	64435121	1,12995	2201	4297	6498	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"neurexin II"	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1399C>T	11.37:g.64435121G>A	ENSP00000366774:p.Arg467Cys		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.R467C	ENST00000377551.1	37	c.1399	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966006	0.74131	2.27E-4	0.0	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300	T;T;T;T;T	0.80304	0.0;0.09;0.0;0.1;-1.36	4.63	3.64	0.41730	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.41938	U	0.000799	D	0.86644	0.5982	M	0.64404	1.975	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.85130	0.997;0.913;0.819	D	0.87415	0.2378	10	0.87932	D	0	.	11.6657	0.51372	0.0:0.0:0.8118:0.1882	.	436;467;213	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	C	467;436;467;436;460;223	ENSP00000366774:R467C;ENSP00000366782:R436C;ENSP00000265459:R467C;ENSP00000386416:R460C;ENSP00000388971:R223C	ENSP00000265459:R467C	R	-	1	0	NRXN2	64191697	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.408000	0.59761	2.392000	0.81423	0.462000	0.41574	CGC	NRXN2	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000110076		0.557	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0	50	0	G	NM_015080		64435121	-1	tier1	rs142409712	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	17.39	38	8	SNP	1.000	A	A	64435121	G	A	64435121	3	1	108	1	0	0	0	0	1	0	0	0	10705	1116	39	1	4068	1	NRXN2	11	64435121	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	16625373	64435121	70571395	81	29614											
KLC2	64837	genome.wustl.edu	37	chr11	66033477	66033477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgggacctacagctgagtgGaatggggtgagtccggggcc	7	7	19	8	1	0	2	0	2	0	0	1	4	1	4	3	6	2	1	3	6	2	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:66033477G>C	ENST00000417856.1	+	13	1839	c.1596G>C	c.(1594-1596)tgG>tgC	p.W532C	KLC2_ENST00000394066.2_Missense_Mutation_p.W455C|RP11-867G23.2_ENST00000533287.1_RNA|KLC2_ENST00000394078.1_Intron|RAB1B_ENST00000311481.6_5'Flank|KLC2_ENST00000394065.2_Missense_Mutation_p.W393C|KLC2_ENST00000316924.5_Missense_Mutation_p.W532C|RP11-867G23.1_ENST00000530805.1_RNA|RAB1B_ENST00000527397.1_5'Flank|KLC2_ENST00000394067.2_Missense_Mutation_p.W532C|KLC2_ENST00000421552.1_Missense_Mutation_p.W455C	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	532					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGCTGAGTGGAATGGGGTGA	0.706																																																	0													42	49	46					11																	66033477		2200	4290	6490	SO:0001583	missense	0			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"Tetratricopeptide (TTC) repeat domain containing"	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1596G>C	11.37:g.66033477G>C	ENSP00000399403:p.Trp532Cys		A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W532C	ENST00000417856.1	37	c.1596	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660901	0.47572	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.84660	-1.19;-1.19;-1.19;-1.2;-1.2;-1.88	3.41	3.41	0.39046	.	0.000000	0.64402	D	0.000003	D	0.90317	0.6971	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.80764	0.994;0.99;0.987	D	0.90336	0.4355	10	0.46703	T	0.11	-12.6709	13.7549	0.62930	0.0:0.0:1.0:0.0	.	393;455;532	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	C	532;532;532;455;455;393	ENSP00000399403:W532C;ENSP00000377631:W532C;ENSP00000314837:W532C;ENSP00000408484:W455C;ENSP00000377630:W455C;ENSP00000377629:W393C	ENSP00000314837:W532C	W	+	3	0	KLC2	65790053	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	5.055000	0.64282	1.745000	0.51790	0.491000	0.48974	TGG	KLC2	-	NULL	ENSG00000174996		0.706	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1		0	30	0	G	NM_022822		66033477	1			no_errors	ENST00000316924	ensembl	human	known	74_37	missense	9.09	20	2	SNP	1.000	C	C	66033477	G	C	66033477	3	2	108	1	0	0	0	0	1	0	0	0	8361	1183	41	5	1642	5	KLC2	11	66033477	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	1598356	66033477	68973039	82	29615											
C11orf24	53838	genome.wustl.edu	37	chr11	68030003	68030003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgctggaggccgcagtcaTactggaggctgcagtcgtgg	7	8	17	9	2	1	0	1	0	0	0	2	2	1	2	1	5	3	4	1	5	1	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:68030003T>C	ENST00000304271.6	-	4	862	c.460A>G	c.(460-462)Atg>Gtg	p.M154V	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'UTR	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	154						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GCCGCAGTCATACTGGAGGCT	0.642																																					NSCLC(21;855 905 4198 36694)												0													41	41	41					11																	68030003		2200	4294	6494	SO:0001583	missense	0			AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.460A>G	11.37:g.68030003T>C	ENSP00000307264:p.Met154Val		Q9H2K4	Missense_Mutation	SNP	NULL	p.M154V	ENST00000304271.6	37	c.460	CCDS8180.1	11	.	.	.	.	.	.	.	.	.	.	-	0.046	-1.266998	0.01433	.	.	ENSG00000171067	ENST00000304271	T	0.27720	1.65	0.711	-1.42	0.08913	.	.	.	.	.	T	0.12135	0.0295	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.25813	-1.0121	9	0.27082	T	0.32	.	3.3191	0.07044	0.0:0.0:0.4367:0.5633	.	154	Q96F05	CK024_HUMAN	V	154	ENSP00000307264:M154V	ENSP00000307264:M154V	M	-	1	0	C11orf24	67786579	0.011000	0.17503	0.001000	0.08648	0.019000	0.09904	0.099000	0.15210	-0.492000	0.06687	0.092000	0.15492	ATG	C11orf24	-	NULL	ENSG00000171067		0.642	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf24	HGNC	protein_coding	OTTHUMT00000394750.1	-	0	146	0	T	NM_022338		68030003	-1	tier1	-	no_errors	ENST00000304271	ensembl	human	known	74_37	missense	24.21	72	23	SNP	0.003	C	C	68030003	T	C	68030003	3	2	108	1	0	0	0	0	1	0	0	0	1640	1406	49	4	893	4	C11orf24	11	68030003	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	1996526	68030003	66976513	83	29616											
DLG2	1740	genome.wustl.edu	37	chr11	83962299	83962299	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acataaggaattgtgtccaaAgtatctgtgttgacaattat	14	14	8	5	0	1	1	0	1	1	0	2	2	2	2	1	1	0	2	1	1	6	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr11:83962299A>T	ENST00000532653.1	-	3	542	c.240T>A	c.(238-240)acT>acA	p.T80T	DLG2_ENST00000531015.1_Silent_p.T47T|DLG2_ENST00000280241.8_Silent_p.T119T|DLG2_ENST00000376104.2_Silent_p.T185T|DLG2_ENST00000543673.1_Silent_p.T185T|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000398301.2_Silent_p.T119T|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000524982.1_Silent_p.T80T|DLG2_ENST00000330014.6_Silent_p.T19T|DLG2_ENST00000398309.2_Silent_p.T80T|DLG2_ENST00000376106.3_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0				E -> G (in Ref. 4; CAI56746). {ECO:0000305}.	nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTGTGTCCAAAGTATCTGTGT	0.289																																																	0													57	52	54					11																	83962299		1805	4072	5877	SO:0001819	synonymous_variant	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	2901	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 58"	603583	"discs, large homolog 2, chapsyn-110 (Drosophila)"			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.240T>A	11.37:g.83962299A>T			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.T185	ENST00000532653.1	37	c.555		11																																																																																			DLG2	-	pfam_MAGUK_PEST_N,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase	ENSG00000150672		0.289	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0	20	0	A	NM_001364		83962299	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	silent	100.00	0	5	SNP	0.999	T	T	83962299	A	T	83962299	2	4	108	1	0	0	0	0	0	0	0	1	4569	59	3	5		5	DLG2	11	83962299	Silent	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	15932296	83962299	51044217	84	29617											
CACNA1C	775	genome.wustl.edu	37	chr12	2676738	2676738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgggcctgccagacaCggcaaacaaggccctgctgg	8	6	12	15	1	1	1	0	0	1	1	2	1	1	1	4	4	3	2	4	4	2	0	rs572234918	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:2676738C>T	ENST00000347598.4	+	13	1673	c.1673C>T	c.(1672-1674)aCg>aTg	p.T558M	CACNA1C_ENST00000399617.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T558M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T558M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T558M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T558M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T558M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T583M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	558					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGCCAGACACGGCAAACAAG	0.567													C|||	3	0.000599042	0	0	5008	,	,		20244	0.001		0	False		,,,				2504	0.002																0													18	20	19					12																	2676738		2094	4249	6343	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1673C>T	12.37:g.2676738C>T	ENSP00000266376:p.Thr558Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.T558M	ENST00000347598.4	37	c.1673	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614597	0.46631	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41;-4.41	5.07	4.17	0.49024	.	0.109676	0.64402	D	0.000008	D	0.96636	0.8902	N	0.25890	0.77	0.44439	D	0.997369	D;D;P;D;D;D;D;B;D;D;D;D;D;D;D;D;B;D;B;D;D;D;D;P;D	0.89917	1.0;0.985;0.455;1.0;0.995;0.993;0.995;0.4;0.978;0.995;0.993;0.963;0.991;0.988;0.996;0.996;0.273;0.99;0.273;0.993;0.99;0.99;0.993;0.882;0.993	D;P;B;D;P;P;P;B;P;P;P;P;P;P;D;P;B;P;B;P;P;P;P;B;P	0.85130	0.997;0.599;0.153;0.997;0.872;0.759;0.872;0.094;0.536;0.872;0.681;0.536;0.9;0.727;0.921;0.759;0.04;0.686;0.04;0.759;0.831;0.769;0.681;0.407;0.759	D	0.96264	0.9193	10	0.42905	T	0.14	.	13.4844	0.61357	0.0:0.9247:0.0:0.0753	.	558;555;558;558;558;558;558;558;558;558;558;529;558;558;558;558;558;558;558;558;558;558;558;558;558	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	583;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;558;399	ENSP00000336982:T583M;ENSP00000382563:T558M;ENSP00000437936:T558M;ENSP00000382552:T558M;ENSP00000382547:T558M;ENSP00000382506:T558M;ENSP00000382530:T558M;ENSP00000382546:T558M;ENSP00000382500:T558M;ENSP00000382549:T558M;ENSP00000266376:T558M;ENSP00000382515:T558M;ENSP00000382510:T558M;ENSP00000341092:T558M;ENSP00000382537:T558M;ENSP00000329877:T558M;ENSP00000382557:T558M;ENSP00000385724:T558M;ENSP00000382512:T558M;ENSP00000382542:T558M;ENSP00000382526:T558M;ENSP00000385896:T558M;ENSP00000382504:T558M	ENSP00000323129:T399M	T	+	2	0	CACNA1C	2546999	1.000000	0.71417	0.872000	0.34217	0.411000	0.31082	3.885000	0.56182	1.356000	0.45884	0.462000	0.41574	ACG	CACNA1C	-	NULL	ENSG00000151067		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0	22	0	C	NM_000719		2676738	1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.990	T	T	2676738	C	T	2676738	3	4	108	1	0	0	0	0	1	0	0	0	2547	536	19	1	1831	1	CACNA1C	12	2676738	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09		2676738	131175157	85	29618											
HIST4H4	121504	genome.wustl.edu	37	chr12	14923843	14923844	+	Frame_Shift_Ins	INS	-	-	G																															gttctccaggaagactttgaINSggactccccgggtctcctcg																								rs548219328		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:14923843_14923844insG	ENST00000539745.1	-	1	221_222	c.175_176insC	c.(175-177)ctcfs	p.L59fs	HIST4H4_ENST00000541592.1_5'Flank|RP11-174G6.5_ENST00000562691.2_RNA	NM_175054.2	NP_778224.1	P62805	H4_HUMAN	histone cluster 4, H4	59					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						GAAGACTTTGAGGACTCCCCGG	0.589											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	0			AY128653	CCDS8665.1	12p12.3	2011-01-27	2006-10-11			ENSG00000197837		"Histones / Replication-dependent"	20510	protein-coding gene	gene with protein product		615069	"histone 4, H4"			12408966	Standard	NM_175054		Approved	MGC24116	uc001rcf.4	P62805		ENST00000539745.1:c.176dupC	12.37:g.14923845_14923845dupG	ENSP00000443017:p.Leu59fs	698	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L59fs	ENST00000539745.1	37	c.176_175	CCDS8665.1	12																																																																																			HIST4H4	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000197837		0.589	HIST4H4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST4H4	HGNC	protein_coding	OTTHUMT00000400844.1		0	63	0	-	NM_175054		14923844	-1	tier1		no_errors	ENST00000358064	ensembl	human	known	74_37	frame_shift_ins	10.00	45	5	INS	1.000:1.000	G	G	14923844	-	G	14923843	7	5	108	1	0	1	1	0	0	0	0	0	7212	304	11	0	139	0	HIST4H4	12	14923843	Frame_Shift_Ins	INS	-	TCGA-LN-A49W-01A-11D-A27G-09	12247105	14923843	118928052	86	29619											
PLEKHA9	51054	genome.wustl.edu	37	chr12	45568029	45568029	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaagtattacaggttgaTttcagcaaagttcccacatc	15	11	7	8	0	1	2	1	1	0	1	3	2	2	2	1	1	2	4	1	1	5	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:45568029T>C	ENST00000256692.5	-	0	656					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TACAGGTTGATTTCAGCAAAG	0.453																																																	0													237	228	231					12																	45568029		2203	4300	6503			0			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"putative glycolipid transfer protein"		"pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568029T>C				RNA	SNP	-	NULL	ENST00000256692.5	37	NULL		12																																																																																			PLEKHA8P1	-	-	ENSG00000134297		0.453	PLEKHA8P1-002	KNOWN	basic	processed_transcript	PLEKHA8P1	HGNC	pseudogene	OTTHUMT00000404814.1		0	81	0	T	NR_037144		45568029	-1			no_errors	ENST00000256692	ensembl	human	known	74_37	rna	8.93	51	5	SNP	1.000	C	C	45568029	T	C	45568029	1	2	108	0	1	0	0	0	0	0	0	0	12102	1490	52	4		4	PLEKHA9	12	45568029	RNA	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	30644186	45568029	88283866	87	29620											
KRT6A	3853	genome.wustl.edu	37	chr12	52882150	52882150	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcttgcggtaggtggcGatctccacgtccagggccag	7	7	15	12	3	1	0	0	0	1	0	3	1	2	0	3	4	3	3	3	4	1	2	rs370853930		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:52882150G>T	ENST00000330722.6	-	7	1454	c.1386C>A	c.(1384-1386)atC>atA	p.I462I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	462	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAGGTGGCGATCTCCACGT	0.597																																																	0													119	107	111					12																	52882150		2203	4300	6503	SO:0001819	synonymous_variant	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1386C>A	12.37:g.52882150G>T			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.I462	ENST00000330722.6	37	c.1386	CCDS41786.1	12																																																																																			KRT6A	-	pfam_IF,superfamily_Prefoldin	ENSG00000205420		0.597	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0	84	0	G	NM_005554		52882150	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	silent	15.12	73	13	SNP	0.647	T	T	52882150	G	T	52882150	2	4	108	1	0	0	0	0	0	0	0	1	8507	1048	37	2		2	KRT6A	12	52882150	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	7314121	52882150	80969745	88	29621											
PDE1B	5153	genome.wustl.edu	37	chr12	54963024	54963024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggtcagatgccgtgccttCggaggtgcgggactggctgg	4	8	19	10	4	1	1	1	0	0	1	2	3	1	3	2	6	3	1	2	6	0	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:54963024C>T	ENST00000243052.3	+	4	720	c.284C>T	c.(283-285)tCg>tTg	p.S95L	PDE1B_ENST00000538346.1_Missense_Mutation_p.S54L|PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Missense_Mutation_p.S75L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	95					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCCGTGCCTTCGGAGGTGCGG	0.637																																																	0													60	64	63					12																	54963024		2203	4300	6503	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"Phosphodiesterases"	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.284C>T	12.37:g.54963024C>T	ENSP00000243052:p.Ser95Leu		Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.S95L	ENST00000243052.3	37	c.284	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381531	0.61845	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70282	-0.47;-0.44;-0.44	4.97	4.97	0.65823	-cyclic nucleotide phosphodiesterase N-terminal (1);5&apos (1);3&apos (1);	0.237399	0.35436	N	0.003205	T	0.69251	0.3090	M	0.63428	1.95	0.44562	D	0.99752	B;B	0.25772	0.11;0.134	B;B	0.27380	0.032;0.079	T	0.67499	-0.5655	10	0.39692	T	0.17	.	16.096	0.81123	0.0:1.0:0.0:0.0	.	75;95	Q01064-2;Q01064	.;PDE1B_HUMAN	L	95;54;75	ENSP00000243052:S95L;ENSP00000442559:S54L;ENSP00000448519:S75L	ENSP00000243052:S95L	S	+	2	0	PDE1B	53249291	0.994000	0.37717	0.981000	0.43875	0.990000	0.78478	4.793000	0.62474	2.459000	0.83118	0.655000	0.94253	TCG	PDE1B	-	pfam_PDEase_N	ENSG00000123360		0.637	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	-	0	107	0	C			54963024	1	tier1	-	no_errors	ENST00000243052	ensembl	human	known	74_37	missense	14.86	63	11	SNP	0.969	T	T	54963024	C	T	54963024	3	4	108	1	0	0	0	0	1	0	0	0	11673	893	31	1	351	1	PDE1B	12	54963024	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	2080874	54963024	78888871	89	29622											
C12orf50	160419	genome.wustl.edu	37	chr12	88380170	88380170	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacctttaaaatgaggctTcttcactggctggacatcat	11	12	7	11	0	3	1	2	1	1	0	3	2	3	2	1	3	0	2	1	3	2	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:88380170T>G	ENST00000298699.2	-	10	1021	c.841A>C	c.(841-843)Aag>Cag	p.K281Q	C12orf50_ENST00000550553.1_Missense_Mutation_p.K242Q	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	281										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAATGAGGCTTCTTCACTGGC	0.323																																																	0													103	105	104					12																	88380170		2202	4300	6502	SO:0001583	missense	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.841A>C	12.37:g.88380170T>G	ENSP00000298699:p.Lys281Gln		Q6P674	Missense_Mutation	SNP	NULL	p.K281Q	ENST00000298699.2	37	c.841	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	T	20.3	3.966346	0.74131	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.48201	0.84;0.82	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.76574	2.34	0.36984	D	0.894455	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75651	-0.3244	10	0.59425	D	0.04	.	14.0517	0.64742	0.0:0.0:0.0:1.0	.	296;281	G3V208;Q8NA57	.;CL050_HUMAN	Q	281;242;296	ENSP00000298699:K281Q;ENSP00000448344:K242Q	ENSP00000298699:K281Q	K	-	1	0	C12orf50	86904301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.935000	0.48963	2.307000	0.77673	0.528000	0.53228	AAG	C12orf50	-	NULL	ENSG00000165805		0.323	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	-	0	74	0	T	NM_152589		88380170	-1	tier1	-	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	G	G	88380170	T	G	88380170	3	3	108	1	0	0	0	0	1	0	0	0	1700	1792	62	4	419	4	C12orf50	12	88380170	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	33417146	88380170	45471725	90	29623											
C12orf63	144535	genome.wustl.edu	37	chr12	97051988	97051988	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattctttacccctgtctaGtgagaggtatacagaacaag	12	12	9	8	0	2	2	0	1	2	2	2	3	2	2	2	1	3	2	2	1	7	7			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:97051988G>C	ENST00000524981.4	+	38	5347		c.e38-1					Q96N23	CL055_HUMAN																			CCCCTGTCTAGTGAGAGGTAT	0.378																																																	0													87	87	87					12																	97051988		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000524981.4:c.5325-1G>C	12.37:g.97051988G>C				Splice_Site	SNP	-	e38-1	ENST00000524981.4	37	c.5325-1		12	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731832	0.69189	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.071	0.93136	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C12orf63	95576119	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.660000	0.74417	2.581000	0.87130	0.462000	0.41574	.	C12orf55	-	-	ENSG00000188596		0.378	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0	32	0	G		Intron	97051988	1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	splice_site	32.35	23	11	SNP	1.000	C	C	97051988	G	C	97051988	5	2	108	1	0	0	0	0	0	0	1	0	1711	1043	36	5	613	5	C12orf63	12	97051988	Splice_Site	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	8671818	97051988	36799907	91	29624											
RPH3A	22895	genome.wustl.edu	37	chr12	113334573	113334573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaatgagaaccacgtGtcaagtgattaggctagtgc	13	9	11	8	1	1	3	1	2	0	2	1	4	1	3	1	1	3	1	1	1	6	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:113334573G>A	ENST00000389385.4	+	22	2570	c.2073G>A	c.(2071-2073)gtG>gtA	p.V691V	RPH3A_ENST00000420983.2_Silent_p.V691V|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Silent_p.V691V|RPH3A_ENST00000543106.2_Silent_p.V691V|RPH3A_ENST00000551052.1_Silent_p.V687V|RPH3A_ENST00000548866.1_Silent_p.V642V|RPH3A_ENST00000447659.2_Silent_p.V642V	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	691					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGAACCACGTGTCAAGTGATT	0.542																																																	0													95	84	88					12																	113334573		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"Synaptotagmins"	17056	protein-coding gene	gene with protein product		612159	"rabphilin 3A homolog (mouse)"			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.2073G>A	12.37:g.113334573G>A			B7Z3C3|Q96AE0	Silent	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.V691	ENST00000389385.4	37	c.2073	CCDS44979.1	12																																																																																			RPH3A	-	NULL	ENSG00000089169		0.542	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	-	0	31	0	G	NM_014954		113334573	1	tier1	-	no_errors	ENST00000389385	ensembl	human	known	74_37	silent	35.29	11	6	SNP	0.679	A	A	113334573	G	A	113334573	2	1	108	1	0	0	0	0	0	0	0	1	13596	1364	48	3		3	RPH3A	12	113334573	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	16282585	113334573	20517322	92	29625											
ARL6IP4	23457	genome.wustl.edu	37	chr12	123466182	123466184	+	5'UTR	DEL	CTC	CTC	-																															cggaggagaacaagatccagCtcctcctcctcttcttccag																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr12:123466182_123466184delCTC	ENST00000542678.1	-	0	12_14				ARL6IP4_ENST00000357866.4_In_Frame_Del_p.67_68SS>S|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.56_57SS>S|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.67_68SS>S|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.64_65SS>S|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.56_57SS>S|ARL6IP4_ENST00000392435.2_In_Frame_Del_p.179_180SS>S|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.190_191SS>S|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.179_180SS>S|ARL6IP4_ENST00000315580.5_In_Frame_Del_p.198_199SS>S			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CAAGATCCAGctcctcctcctct	0.567																																					Ovarian(49;786 1333 9175 38236)												0																																										SO:0001623	5_prime_UTR_variant	0			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"ATP binding cassette transporters / subfamily B"	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.-2827GAG>-	12.37:g.123466191_123466193delCTC			B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	In_Frame_Del	DEL	pfam_Nucl_RNA-splicing_assoc_SR-25	p.S202in_frame_del	ENST00000542678.1	37	c.594_596	CCDS9241.1	12																																																																																			ARL6IP4	-	pfam_Nucl_RNA-splicing_assoc_SR-25	ENSG00000182196		0.567	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL6IP4	HGNC	protein_coding	OTTHUMT00000400956.1		0	21	0	CTC	NM_019624		123466184	1	tier1		no_errors	ENST00000315580	ensembl	human	known	74_37	in_frame_del	25.00	6	2	DEL	0.985:0.990:1.000	-	-	123466184	CTC	-	123466182	6	5	108	0	1	1	0	1	0	0	0	0	944	796	28	0		0	ARL6IP4	12	123466182	5'UTR	DEL	CTC	TCGA-LN-A49W-01A-11D-A27G-09	10131609	123466182	10385713	93	29626											
PARP4	143	genome.wustl.edu	37	chr13	25021304	25021304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcaactcggagaacatagCctggtcatttggtcttctat	9	13	10	9	1	3	1	1	0	2	1	4	2	3	1	1	4	3	1	1	4	4	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr13:25021304C>T	ENST00000381989.3	-	26	3240	c.3135G>A	c.(3133-3135)agG>agA	p.R1045R		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1045	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAGAACATAGCCTGGTCATTT	0.443																																																	0													57	56	56					13																	25021304		2203	4300	6503	SO:0001819	synonymous_variant	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"Poly (ADP-ribose) polymerases"	271	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 5C"	607519	"ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3135G>A	13.37:g.25021304C>T			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.R1045	ENST00000381989.3	37	c.3135	CCDS9307.1	13																																																																																			PARP4	-	pfscan_VWF_A	ENSG00000102699		0.443	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0	50	0	C	NM_006437		25021304	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.093	T	T	25021304	C	T	25021304	2	4	108	1	0	0	0	0	0	0	0	1	11502	738	26	3		3	PARP4	13	25021304	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09		25021304	90148574	94	29627											
FLT1	2321	genome.wustl.edu	37	chr13	28942717	28942719	+	Intron	DEL	ATG	ATG	-																															tgatgataatgatgatagctAtgatgatgatgatgatgacg																								rs112404448	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	ATG	ATG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr13:28942717_28942719delATG	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Stop_Codon_Del	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	gatgatagctatgatgatgatga	0.345														172	0.034345	0.115	0.0173	5008	,	,		24873	0.001		0.004	False		,,,				2504	0.0031																0									,	308,2524		48,212,1156					,	0.2	0.1		dbSNP_132	311	29,4797		5,19,2389	no	intron,coding	FLT1	NM_002019.4,NM_001160030.1	,	53,231,3545	A1A1,A1R,RR		0.6009,10.8757,4.4006	,	,		337,7321				SO:0001627	intron_variant	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3763	protein-coding gene	gene with protein product	"vascular endothelial growth factor receptor 1", "vascular permeability factor receptor"	165070	"fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10895CAT>-	13.37:g.28942726_28942728delATG			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	In_Frame_Del	DEL	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.S733in_frame_del	ENST00000282397.4	37	c.2200_2198	CCDS9330.1	13																																																																																			FLT1	-	pfscan_Ig-like_dom	ENSG00000102755		0.345	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1		0	33	0	ATG			28942719	-1	tier1		no_errors	ENST00000541932	ensembl	human	known	74_37	in_frame_del	18.75	13	3	DEL	0.078:0.077:0.076	-	-	28942719	ATG	-	28942717	6	5	108	0	1	1	0	1	0	0	0	0	5963	462	16	0		0	FLT1	13	28942717	Intron	DEL	ATG	TCGA-LN-A49W-01A-11D-A27G-09	3921413	28942717	86227161	95	29628											
OR4K13	390433	genome.wustl.edu	37	chr14	20502224	20502224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaaagccttagaggatcGactagcagcacggtacctaa	14	6	12	9	2	0	2	0	0	0	2	1	5	0	3	2	3	4	3	2	3	5	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:20502224G>A	ENST00000315693.2	-	1	695	c.694C>T	c.(694-696)Cga>Tga	p.R232*	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTAGAGGATCGACTAGCAGCA	0.493																																																	0													139	124	129					14																	20502224		2203	4300	6503	SO:0001587	stop_gained	0				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"GPCR / Class A : Olfactory receptors"	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.694C>T	14.37:g.20502224G>A	ENSP00000319322:p.Arg232*		Q6IF13	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R232*	ENST00000315693.2	37	c.694	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	10.81	1.454671	0.26161	.	.	ENSG00000176253	ENST00000315693	.	.	.	3.46	1.58	0.23477	.	0.393919	0.18036	U	0.153795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	4.3575	0.11185	0.0:0.5799:0.197:0.2231	.	.	.	.	X	232	.	ENSP00000319322:R232X	R	-	1	2	OR4K13	19572064	0.000000	0.05858	0.014000	0.15608	0.073000	0.16967	-2.735000	0.00802	0.163000	0.19507	-0.431000	0.05894	CGA	OR4K13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176253		0.493	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	HGNC	protein_coding	OTTHUMT00000410344.1	-	0	21	0	G			20502224	-1	tier1	-	no_errors	ENST00000315693	ensembl	human	known	74_37	nonsense	35.71	18	10	SNP	0.047	A	A	20502224	G	A	20502224	4	1	108	1	0	0	0	0	0	1	0	0	11107	1066	37	1	222	1	OR4K13	14	20502224	Nonsense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09		20502224	86847316	96	29629											
PCK2	5106	genome.wustl.edu	37	chr14	24572370	24572370	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgttcattggtgatctaggGgtacccctggtatacgaggc	7	12	13	9	1	2	1	1	1	1	0	2	2	2	1	2	5	2	3	2	5	4	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:24572370G>T	ENST00000216780.4	+	9	1642	c.1374G>T	c.(1372-1374)ggG>ggT	p.G458G	PCK2_ENST00000545054.2_Splice_Site_p.G324G|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000561286.1_Splice_Site_p.G324G|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Splice_Site_p.G470G	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	458					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GTGATCTAGGGGTACCCCTGG	0.552																																																	0													116	96	103					14																	24572370		2203	4300	6503	SO:0001630	splice_region_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1373-1G>T	14.37:g.24572370G>T			O43253|Q86U01|Q9BV62	Silent	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.G458	ENST00000216780.4	37	c.1374	CCDS9609.1	14																																																																																			PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.552	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	-	0	87	0	G	NM_001018073	Silent	24572370	1	tier1	-	no_errors	ENST00000216780	ensembl	human	known	74_37	silent	8.49	97	9	SNP	0.953	T	T	24572370	G	T	24572370	5	4	108	1	0	0	0	0	0	0	1	0	11621	1246	43	3	1500	3	PCK2	14	24572370	Splice_Site	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	4070146	24572370	82777170	97	29630											
CTAGE5	4253	genome.wustl.edu	37	chr14	39777653	39777653	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttaaaatttttatatagAgcatattaaaaatcttcaga	18	15	4	4	0	2	2	1	0	1	2	2	3	2	2	0	0	1	1	0	0	9	9			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:39777653A>T	ENST00000280083.3	+	13	1369	c.1055A>T	c.(1054-1056)gAg>gTg	p.E352V	CTAGE5_ENST00000341749.3_Splice_Site_p.E340V|CTAGE5_ENST00000557038.1_Splice_Site_p.E272V|CTAGE5_ENST00000396158.2_Splice_Site_p.E357V|CTAGE5_ENST00000556148.1_Splice_Site_p.E277V|CTAGE5_ENST00000396165.4_Splice_Site_p.E323V|CTAGE5_ENST00000553352.1_Splice_Site_p.E323V|RP11-407N17.3_ENST00000553728.1_Splice_Site_p.E887V|CTAGE5_ENST00000341502.5_Splice_Site_p.E352V|CTAGE5_ENST00000348007.3_Splice_Site_p.E352V|RP11-407N17.3_ENST00000603904.1_Splice_Site_p.E323V			O15320	CTGE5_HUMAN	CTAGE family, member 5	352					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTTATATAGAGCATATTAAA	0.239																																																	0													17	19	18					14																	39777653		2040	4103	6143	SO:0001630	splice_region_variant	0			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"meningioma expressed antigen 6 (coiled-coil proline-rich)"	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1055-1A>T	14.37:g.39777653A>T			B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	NULL	p.E357V	ENST00000280083.3	37	c.1070	CCDS9674.1	14	.	.	.	.	.	.	.	.	.	.	A	22.7	4.328429	0.81690	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.79247	2.77;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;0.8;-1.25	5.25	2.57	0.30868	.	.	.	.	.	D	0.85279	0.5660	M	0.81497	2.545	0.36305	D	0.857306	D;D;D;D;D;D	0.63046	0.973;0.991;0.982;0.991;0.992;0.991	P;P;D;P;D;P	0.66497	0.886;0.907;0.931;0.848;0.944;0.848	D	0.86702	0.1930	8	.	.	.	.	8.852	0.35206	0.8199:0.0:0.1801:0.0	.	314;357;352;352;323;340	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	V	887;340;272;314;323;352;357;352;277;352;323	ENSP00000452252:E887V;ENSP00000343897:E340V;ENSP00000450869:E272V;ENSP00000379468:E323V;ENSP00000339286:E352V;ENSP00000379462:E357V;ENSP00000280083:E352V;ENSP00000452562:E277V;ENSP00000343912:E352V;ENSP00000450449:E323V	.	E	+	2	0	CTAGE5;RP11-407N17.3	38847404	1.000000	0.71417	0.210000	0.23637	0.833000	0.47200	4.740000	0.62087	0.859000	0.35456	0.477000	0.44152	GAG	CTAGE5	-	NULL	ENSG00000150527		0.239	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	-	0	60	0	A	NM_005930	Missense_Mutation	39777653	1	tier1	-	no_errors	ENST00000396158	ensembl	human	known	74_37	missense	36.11	23	13	SNP	0.589	T	T	39777653	A	T	39777653	5	4	108	1	0	0	0	0	0	0	1	0	4003	318	11	5	1136	5	CTAGE5	14	39777653	Splice_Site	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	15205283	39777653	67571887	98	29631											
ADCK1	57143	genome.wustl.edu	37	chr14	78392246	78392246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcctgcatgctgacggCgcgatcgtgggactcggtca	5	10	15	11	5	1	1	1	1	0	0	3	3	1	2	1	3	3	3	1	3	0	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:78392246C>T	ENST00000238561.5	+	9	1247	c.1148C>T	c.(1147-1149)gCg>gTg	p.A383V	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.A315V	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	390	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ATGCTGACGGCGCGATCGTGG	0.597																																																	0													154	156	156					14																	78392246		2203	4300	6503	SO:0001583	missense	0			AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.1148C>T	14.37:g.78392246C>T	ENSP00000238561:p.Ala383Val		B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.A383V	ENST00000238561.5	37	c.1148	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362537	0.82353	.	.	ENSG00000063761	ENST00000238561;ENST00000341211	T;T	0.66995	-0.24;1.15	5.26	5.26	0.73747	.	0.049652	0.85682	D	0.000000	T	0.78842	0.4347	M	0.81802	2.56	0.80722	D	1	P;D;D	0.69078	0.944;0.997;0.99	B;P;P	0.57425	0.354;0.82;0.657	T	0.75941	-0.3140	10	0.16896	T	0.51	-44.8616	18.8748	0.92331	0.0:1.0:0.0:0.0	.	390;315;383	Q86TW2;Q9UIE6;Q86TW2-2	ADCK1_HUMAN;.;.	V	383;315	ENSP00000238561:A383V;ENSP00000339663:A315V	ENSP00000238561:A383V	A	+	2	0	ADCK1	77461999	1.000000	0.71417	0.914000	0.36105	0.199000	0.23934	5.985000	0.70556	2.461000	0.83175	0.643000	0.83706	GCG	ADCK1	-	NULL	ENSG00000063761		0.597	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	HGNC	protein_coding	OTTHUMT00000413864.1	-	0	60	0	C	NM_020421		78392246	1	tier1	-	no_errors	ENST00000238561	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T	T	78392246	C	T	78392246	3	4	108	1	0	0	0	0	1	0	0	0	288	768	27	1	1178	1	ADCK1	14	78392246	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	38614593	78392246	28957294	99	29632											
C14orf145	145508	genome.wustl.edu	37	chr14	81362115	81362115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaattcttccaaagcccTttttgtttcggcatctgacc	8	15	6	12	1	3	1	1	1	2	0	5	1	4	1	3	1	1	2	3	1	2	5	rs369445029	byFrequency	TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:81362115T>C	ENST00000555265.1	-	8	967	c.592A>G	c.(592-594)Agg>Ggg	p.R198G	CEP128_ENST00000281129.3_Missense_Mutation_p.R198G|CEP128_ENST00000216517.6_Missense_Mutation_p.R198G|CEP128_ENST00000327841.2_Missense_Mutation_p.R138G			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	198						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCAAAGCCCTTTTTGTTTCG	0.294													T|||	4	0.000798722	0	0	5008	,	,		13149	0.003		0	False		,,,				2504	0.001																0													69	65	66					14																	81362115		2192	4287	6479	SO:0001583	missense	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 61", "chromosome 14 open reading frame 145"	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.592A>G	14.37:g.81362115T>C	ENSP00000451162:p.Arg198Gly		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	NULL	p.R198G	ENST00000555265.1	37	c.592	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	T	16.73	3.204753	0.58234	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000216517;ENST00000327841	T;T;T	0.57273	1.01;1.01;0.41	5.84	5.84	0.93424	.	0.314743	0.27715	N	0.018155	T	0.43743	0.1261	L	0.27053	0.805	0.39290	D	0.964713	P;P;P	0.46142	0.873;0.787;0.59	B;B;B	0.42361	0.385;0.372;0.286	T	0.51252	-0.8729	10	0.59425	D	0.04	.	13.7492	0.62897	0.0:0.0:0.0:1.0	.	198;79;198	Q6ZU80-3;Q8N3Z7;Q6ZU80	.;.;CE128_HUMAN	G	198;198;198;198;138	ENSP00000281129:R198G;ENSP00000451162:R198G;ENSP00000216517:R198G	ENSP00000216517:R198G	R	-	1	2	CEP128	80431868	0.999000	0.42202	0.998000	0.56505	0.840000	0.47671	3.272000	0.51616	2.230000	0.72887	0.528000	0.53228	AGG	CEP128	-	NULL	ENSG00000100629		0.294	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	-	0	79	0	T	NM_152446		81362115	-1	tier1	-	no_errors	ENST00000281129	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	C	C	81362115	T	C	81362115	3	2	108	1	0	0	0	0	1	0	0	0	1754	1608	56	4	2764	4	C14orf145	14	81362115	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	2969869	81362115	25987425	100	29633											
TTC8	123016	genome.wustl.edu	37	chr14	89291075	89291075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcggagatggagccgctGctcctggcctggagctattt	6	10	14	11	2	0	1	0	0	0	1	2	4	1	3	3	4	4	4	3	4	1	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:89291075G>T	ENST00000345383.5	+	1	108	c.24G>T	c.(22-24)ctG>ctT	p.L8L	TTC8_ENST00000346301.4_Silent_p.L8L|TTC8_ENST00000338104.6_Silent_p.L8L|TTC8_ENST00000380656.2_Silent_p.L8L|TTC8_ENST00000354441.6_Silent_p.L8L|TTC8_ENST00000536576.1_5'UTR	NM_198309.2	NP_938051.1	Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	8					axon guidance (GO:0007411)|camera-type eye photoreceptor cell differentiation (GO:0060219)|cilium assembly (GO:0042384)|establishment of anatomical structure orientation (GO:0048560)|fat cell differentiation (GO:0045444)|multicellular organism growth (GO:0035264)|nonmotile primary cilium assembly (GO:0035058)|olfactory bulb development (GO:0021772)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|renal tubule development (GO:0061326)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)	BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|photoreceptor connecting cilium (GO:0032391)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGAGCCGCTGCTCCTGGCCT	0.642																																																	0													16	17	16					14																	89291075		2202	4299	6501	SO:0001819	synonymous_variant	0			AK093891	CCDS9885.1, CCDS9886.1, CCDS32137.1, CCDS73674.1, CCDS73675.1	14q31.3	2013-02-14				ENSG00000165533		"Tetratricopeptide (TTC) repeat domain containing"	20087	protein-coding gene	gene with protein product		608132				14520415, 20451172	Standard	NM_144596		Approved	BBS8, RP51	uc001xxi.3	Q8TAM2		ENST00000345383.5:c.24G>T	14.37:g.89291075G>T			A6NFG2|B3KWA5|Q67B97|Q86SY0|Q86TV9|Q86U26|Q8NDH9|Q96DG8	Silent	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L8	ENST00000345383.5	37	c.24	CCDS9885.1	14																																																																																			TTC8	-	NULL	ENSG00000165533		0.642	TTC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC8	HGNC	protein_coding	OTTHUMT00000410861.1	-	0	10	0	G	NM_144596		89291075	1	tier1	-	no_errors	ENST00000338104	ensembl	human	known	74_37	silent	77.78	2	7	SNP	1.000	T	T	89291075	G	T	89291075	2	4	108	1	0	0	0	0	0	0	0	1	16763	1306	46	3		3	TTC8	14	89291075	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	7928960	89291075	18058465	101	29634											
INF2	64423	genome.wustl.edu	37	chr14	105173657	105173657	+	Frame_Shift_Del	DEL	C	C	-																															aaggggcgacccagaccgagCcccctggtcaaggcccataa																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr14:105173657delC	ENST00000392634.4	+	8	1165	c.1053delC	c.(1051-1053)agcfs	p.S351fs	INF2_ENST00000330634.7_Frame_Shift_Del_p.S351fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	351					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCAGACCGAGCCCCCTGGTCA	0.627																																																	0													20	26	24					14																	105173657		1970	4140	6110	SO:0001589	frameshift_variant	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"inverted formin 2"	610982	"chromosome 14 open reading frame 151", "chromosome 14 open reading frame 173"	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.1053delC	14.37:g.105173657delC	ENSP00000376410:p.Ser351fs		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Frame_Shift_Del	DEL	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.L353fs	ENST00000392634.4	37	c.1053	CCDS9989.2	14																																																																																			INF2	-	NULL	ENSG00000203485		0.627	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4		0	50	0	C	NM_022489		105173657	1	tier1		no_errors	ENST00000392634	ensembl	human	known	74_37	frame_shift_del	6.06	31	2	DEL	0.004	-	-	105173657	C	-	105173657	7	5	108	1	0	1	0	1	0	0	0	0	7761	738	26	0	1083	0	INF2	14	105173657	Frame_Shift_Del	DEL	C	TCGA-LN-A49W-01A-11D-A27G-09	15882582	105173657	2175883	102	29635											
CAPN3	825	genome.wustl.edu	37	chr15	42703106	42703106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctcaacaaccagctctAtgacatcattaccatgcggt	12	9	5	15	1	3	1	2	1	1	0	3	1	3	1	4	1	5	1	4	1	4	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr15:42703106A>G	ENST00000397163.3	+	22	2507	c.2288A>G	c.(2287-2289)tAt>tGt	p.Y763C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.Y670C|CAPN3_ENST00000397200.4_Missense_Mutation_p.Y251C|CAPN3_ENST00000318023.7_Missense_Mutation_p.Y757C|CAPN3_ENST00000562199.1_3'UTR|CAPN3_ENST00000397204.4_Missense_Mutation_p.Y98C|CAPN3_ENST00000569136.1_Missense_Mutation_p.Y98C|CAPN3_ENST00000561817.1_Missense_Mutation_p.Y98C|CAPN3_ENST00000357568.3_Missense_Mutation_p.Y757C|CAPN3_ENST00000337571.4_Missense_Mutation_p.Y98C|CAPN3_ENST00000349748.3_Missense_Mutation_p.Y671C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	763	Domain IV.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AACCAGCTCTATGACATCATT	0.522																																																	0			GRCh37	CM994482	CAPN3	M							200	164	176					15																	42703106		2203	4299	6502	SO:0001583	missense	0			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"EF-hand domain containing"	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.2288A>G	15.37:g.42703106A>G	ENSP00000380349:p.Tyr763Cys		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y763C	ENST00000397163.3	37	c.2288	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	A	25.6	4.653480	0.88056	.	.	ENSG00000092529	ENST00000356316;ENST00000337522;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023;ENST00000397200;ENST00000337571;ENST00000397204	D;D;D;D;D;D;D;D	0.94537	-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45;-3.45	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.64402	U	0.000001	D	0.95940	0.8678	L	0.46885	1.475	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;1.0;0.999;0.984	D	0.96083	0.9055	10	0.54805	T	0.06	.	15.5839	0.76468	1.0:0.0:0.0:0.0	.	628;676;98;671;757;763;670	C6EVS4;C6EVS3;A4FTZ9;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;.;CAN3_HUMAN;.	C	670;251;763;757;671;757;251;98;98	ENSP00000348667:Y670C;ENSP00000380349:Y763C;ENSP00000350181:Y757C;ENSP00000183936:Y671C;ENSP00000326281:Y757C;ENSP00000380384:Y251C;ENSP00000336840:Y98C;ENSP00000380387:Y98C	ENSP00000326281:Y757C	Y	+	2	0	CAPN3	40490398	1.000000	0.71417	0.938000	0.37757	0.935000	0.57460	9.139000	0.94554	2.274000	0.75844	0.533000	0.62120	TAT	CAPN3	-	NULL	ENSG00000092529		0.522	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	-	0	54	0	A			42703106	1	tier1	-	no_errors	ENST00000397163	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.999	G	G	42703106	A	G	42703106	3	3	108	1	0	0	0	0	1	0	0	0	2635	449	16	4	2426	4	CAPN3	15	42703106	Missense_Mutation	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09		42703106	59828286	103	29636											
IREB2	3658	genome.wustl.edu	37	chr15	78730685	78730685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggtctccggcgatggaCgccccaaaagcaggtcagtt	10	8	12	11	3	2	0	1	0	1	0	3	2	2	1	3	4	1	2	3	4	3	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr15:78730685C>T	ENST00000258886.8	+	1	155	c.6C>T	c.(4-6)gaC>gaT	p.D2D	IREB2_ENST00000560440.1_Silent_p.D2D	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	2					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CGGCGATGGACGCCCCAAAAG	0.657																																					NSCLC(200;764 2208 35157 49871 50830)												0													26	26	26					15																	78730685		2195	4290	6485	SO:0001819	synonymous_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.6C>T	15.37:g.78730685C>T			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.D2	ENST00000258886.8	37	c.6	CCDS10302.1	15																																																																																			IREB2	-	NULL	ENSG00000136381		0.657	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3		0	82	0	C	NM_004136		78730685	1			no_errors	ENST00000258886	ensembl	human	known	74_37	silent	6.06	62	4	SNP	1.000	T	T	78730685	C	T	78730685	2	4	108	1	0	0	0	0	0	0	0	1	7853	535	19	1		1	IREB2	15	78730685	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	36027579	78730685	23800707	104	29637											
DET1	55070	genome.wustl.edu	37	chr15	89074239	89074239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatggtctgttgttgcacaGacaagatggccaggatgttt	9	12	14	6	0	1	2	0	0	1	2	1	4	1	4	1	4	1	4	1	4	1	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr15:89074239G>A	ENST00000268148.8	-	2	843	c.698C>T	c.(697-699)tCt>tTt	p.S233F	DET1_ENST00000444300.1_Missense_Mutation_p.S244F|DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.S244F|DET1_ENST00000559656.1_5'Flank	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	233						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTGTTGCACAGACAAGATGGC	0.502																																																	0													78	77	78					15																	89074239		2025	4200	6225	SO:0001583	missense	0			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.698C>T	15.37:g.89074239G>A	ENSP00000268148:p.Ser233Phe		B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.S244F	ENST00000268148.8	37	c.731	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450801	0.84209	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85340	0.5674	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86259	0.1654	9	0.87932	D	0	-21.9976	19.8676	0.96824	0.0:0.0:1.0:0.0	.	233;244	Q7L5Y6;B3KNN6	DET1_HUMAN;.	F	244;233	.	ENSP00000268148:S233F	S	-	2	0	DET1	86875243	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	9.120000	0.94369	2.941000	0.99782	0.655000	0.94253	TCT	DET1	-	pfam_De-etiolated_protein_1_Det1	ENSG00000140543		0.502	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	-	0	93	0	G	NM_017996		89074239	-1	tier1	-	no_errors	ENST00000444300	ensembl	human	known	74_37	missense	33.33	54	27	SNP	1.000	A	A	89074239	G	A	89074239	3	1	108	1	0	0	0	0	1	0	0	0	4464	942	33	3	970	3	DET1	15	89074239	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	10343554	89074239	13457153	105	29638											
ZNF174	7727	genome.wustl.edu	37	chr16	3452110	3452111	+	Frame_Shift_Ins	INS	-	-	A																															gaaacggggccctcctctgcINSaaaaaaactgcccagatcct																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:3452110_3452111insA	ENST00000268655.4	+	1	691_692	c.106_107insA	c.(106-108)caafs	p.Q36fs	ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000572544.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000422427.2_5'Flank|ZNF174_ENST00000571936.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000344823.5_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000439568.2_5'Flank|ZNF174_ENST00000575752.1_Frame_Shift_Ins_p.Q36fs|ZSCAN32_ENST00000304926.3_5'Flank	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	36					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCTCCTCTGCAAAAAAACTGC	0.5																																																	0																																										SO:0001589	frameshift_variant	0			U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"-", "Zinc fingers, C2H2-type"	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.113dupA	16.37:g.3452117_3452117dupA	ENSP00000268655:p.Gln36fs		Q53Y68|Q9BQ34	Frame_Shift_Ins	INS	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.N38fs	ENST00000268655.4	37	c.106_107	CCDS10504.1	16																																																																																			ZNF174	-	superfamily_Retrov_capsid_C	ENSG00000103343		0.5	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF174	HGNC	protein_coding	OTTHUMT00000251510.1		0	36	0	-	NM_003450		3452111	1	tier1		no_errors	ENST00000268655	ensembl	human	known	74_37	frame_shift_ins	14.29	24	4	INS	0.037:0.000	A	A	3452111	-	A	3452110	7	5	108	1	0	1	1	0	0	0	0	0	17792	711	25	0	108	0	ZNF174	16	3452110	Frame_Shift_Ins	INS	-	TCGA-LN-A49W-01A-11D-A27G-09		3452110	86902643	106	29639											
CREBBP	1387	genome.wustl.edu	37	chr16	3820633	3820633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcgatgactgaggggtagCcacagacgggggctgaactg	9	6	17	9	2	0	4	0	3	0	1	0	5	0	4	1	4	3	2	1	4	2	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:3820633C>A	ENST00000262367.5	-	14	3627	c.2818G>T	c.(2818-2820)Gct>Tct	p.A940S	CREBBP_ENST00000382070.3_Missense_Mutation_p.A902S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	940					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGGGGTAGCCACAGACGGG	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													94	115	108					16																	3820633		2197	4300	6497	SO:0001583	missense	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"Chromatin-modifying enzymes / K-acetyltransferases"	2348	protein-coding gene	gene with protein product		600140	"Rubinstein-Taybi syndrome"	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2818G>T	16.37:g.3820633C>A	ENSP00000262367:p.Ala940Ser		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A940S	ENST00000262367.5	37	c.2818	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729589	0.48833	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83075	-1.68;-1.6	5.69	4.74	0.60224	.	0.175198	0.42053	D	0.000767	T	0.59293	0.2183	N	0.02539	-0.55	0.44754	D	0.997752	B;B	0.18013	0.025;0.025	B;B	0.18561	0.022;0.022	T	0.59669	-0.7411	10	0.02654	T	1	-12.3133	13.6232	0.62149	0.0:0.4481:0.5519:0.0	.	970;940	Q4LE28;Q92793	.;CBP_HUMAN	S	940;970;902	ENSP00000262367:A940S;ENSP00000371502:A902S	ENSP00000262367:A940S	A	-	1	0	CREBBP	3760634	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.389000	0.59639	1.543000	0.49345	0.655000	0.94253	GCT	CREBBP	-	NULL	ENSG00000005339		0.642	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0	41	0	C	NM_004380		3820633	-1			no_errors	ENST00000262367	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A	A	3820633	C	A	3820633	3	1	108	1	0	0	0	0	1	0	0	0	3868	739	26	3	4582	3	CREBBP	16	3820633	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	368523	3820633	86534120	107	29640											
C16orf71	146562	genome.wustl.edu	37	chr16	4793092	4793093	+	Frame_Shift_Ins	INS	-	-	A																															ccttcagagtctggcgggacINSaagaagacaaccagggaaat																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:4793092_4793093insA	ENST00000299320.5	+	5	1310_1311	c.832_833insA	c.(832-834)caafs	p.Q278fs	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Frame_Shift_Ins_p.Q292fs	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	278										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTGGCGGGACAAGAAGACAAC	0.52																																																	0																																										SO:0001589	frameshift_variant	0			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.834dupA	16.37:g.4793094_4793094dupA	ENSP00000299320:p.Gln278fs		Q8NCV0	Frame_Shift_Ins	INS	NULL	p.E279fs	ENST00000299320.5	37	c.832_833	CCDS10521.1	16																																																																																			C16orf71	-	NULL	ENSG00000166246		0.52	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf71	HGNC	protein_coding	OTTHUMT00000251644.1		0	30	0	-	NM_139170		4793093	1	tier1		no_errors	ENST00000299320	ensembl	human	known	74_37	frame_shift_ins	27.50	29	11	INS	0.002:0.000	A	A	4793093	-	A	4793092	7	5	108	1	0	1	1	0	0	0	0	0	1835	479	17	0	846	0	C16orf71	16	4793092	Frame_Shift_Ins	INS	-	TCGA-LN-A49W-01A-11D-A27G-09	972459	4793092	85561661	108	29641											
ZNF646	9726	genome.wustl.edu	37	chr16	31091561	31091561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgtgggcagtgcgggCggacctatcgccacgccggc	4	6	16	15	6	0	0	0	0	0	0	2	1	1	1	4	4	1	2	4	4	1	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:31091561C>T	ENST00000394979.2	+	1	4339	c.3916C>T	c.(3916-3918)Cgg>Tgg	p.R1306W	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1306W			O15015	ZN646_HUMAN	zinc finger protein 646	1306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCAGTGCGGGCGGACCTATCG	0.701																																																	0													26	26	26					16																	31091561		2193	4296	6489	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3916C>T	16.37:g.31091561C>T	ENSP00000378429:p.Arg1306Trp		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1306W	ENST00000394979.2	37	c.3916		16	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777902	0.31502	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.55588	0.51;0.51	5.13	3.02	0.34903	.	.	.	.	.	T	0.71204	0.3312	M	0.80028	2.48	0.40551	D	0.981111	D	0.89917	1.0	D	0.85130	0.997	T	0.76386	-0.2978	9	0.87932	D	0	-8.9831	11.7851	0.52037	0.1433:0.7309:0.1258:0.0	.	1306	O15015-2	.	W	1306;1306;178	ENSP00000300850:R1306W;ENSP00000378429:R1306W	ENSP00000300850:R1306W	R	+	1	2	ZNF646	30999062	0.008000	0.16893	0.875000	0.34327	0.016000	0.09150	0.699000	0.25586	1.373000	0.46208	-0.305000	0.09177	CGG	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167395		0.701	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2		0	16	0	C	NM_014699		31091561	1			no_errors	ENST00000300850	ensembl	human	known	74_37	missense	15.38	11	2	SNP	0.846	T	T	31091561	C	T	31091561	3	4	108	1	0	0	0	0	1	0	0	0	18110	759	27	1	3918	1	ZNF646	16	31091561	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	26298469	31091561	59263192	109	29642											
POLR2C	5432	genome.wustl.edu	37	chr16	57504037	57504038	+	Frame_Shift_Ins	INS	-	-	A																															agtgtaccccaagcccgaggINSaatggtatgttccccttagg																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:57504037_57504038insA	ENST00000219252.5	+	7	942_943	c.604_605insA	c.(604-606)gaafs	p.E202fs	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	202					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAAGCCCGAGGAATGGTATGTT	0.535																																																	0																																										SO:0001589	frameshift_variant	0				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"RNA polymerase subunits"	9189	protein-coding gene	gene with protein product	"RNA polymerase II subunit 3"	180663	"polymerase (RNA) II (DNA directed) polypeptide C (33kD)"			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.606dupA	16.37:g.57504039_57504039dupA	ENSP00000219252:p.Glu202fs		O15161	Frame_Shift_Ins	INS	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.W203fs	ENST00000219252.5	37	c.604_605	CCDS10782.1	16																																																																																			POLR2C	-	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000102978		0.535	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3		0	92	0	-	NM_032940		57504038	1	tier1		no_errors	ENST00000219252	ensembl	human	known	74_37	frame_shift_ins	25.53	70	24	INS	1.000:1.000	A	A	57504038	-	A	57504037	7	5	108	1	0	1	1	0	0	0	0	0	12255	1175	41	0	630	0	POLR2C	16	57504037	Frame_Shift_Ins	INS	-	TCGA-LN-A49W-01A-11D-A27G-09	26412476	57504037	32850716	110	29643											
CDH11	1009	genome.wustl.edu	37	chr16	64981513	64981513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcgttattgttaagaaTcgtcatcaaaagtgtctttg	11	17	8	5	2	3	1	2	0	1	1	5	1	3	1	0	0	0	3	0	0	6	5			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:64981513T>C	ENST00000268603.4	-	13	2999	c.2384A>G	c.(2383-2385)gAt>gGt	p.D795G	CDH11_ENST00000566827.1_Missense_Mutation_p.D669G|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	795					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGTTAAGAATCGTCATCAAA	0.358			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"cadherin 11, type 2, OB-cadherin (osteoblast)"		M	0													78	74	75					16																	64981513		2203	4300	6503	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"Cadherins / Major cadherins"	1750	protein-coding gene	gene with protein product	"OB-Cadherin"	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2384A>G	16.37:g.64981513T>C	ENSP00000268603:p.Asp795Gly		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D795G	ENST00000268603.4	37	c.2384	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607449	0.46527	.	.	ENSG00000140937	ENST00000268603;ENST00000538390	T	0.58506	0.33	6.03	6.03	0.97812	.	0.044190	0.85682	D	0.000000	T	0.41558	0.1164	N	0.12182	0.205	0.58432	D	0.999999	P	0.42456	0.78	B	0.38106	0.265	T	0.46857	-0.9161	10	0.49607	T	0.09	.	15.7413	0.77899	0.0:0.0:0.0:1.0	.	795	P55287	CAD11_HUMAN	G	795;778	ENSP00000268603:D795G	ENSP00000268603:D795G	D	-	2	0	CDH11	63539014	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.965000	0.76067	2.313000	0.78055	0.454000	0.30748	GAT	CDH11	-	NULL	ENSG00000140937		0.358	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	-	0	59	0	T	NM_033664		64981513	-1	tier1	-	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	C	C	64981513	T	C	64981513	3	2	108	1	0	0	0	0	1	0	0	0	3104	1435	50	4	10	4	CDH11	16	64981513	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	7477476	64981513	25373240	111	29644											
ZNF23	7571	genome.wustl.edu	37	chr16	71483126	71483126	+	Frame_Shift_Del	DEL	T	T	-																															atggattctctgatgcctacTtaggcttccattaacactga																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr16:71483126delT	ENST00000393539.2	-	6	1615	c.802delA	c.(802-804)agtfs	p.S268fs	ZNF23_ENST00000428724.2_Frame_Shift_Del_p.S210fs|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Frame_Shift_Del_p.S268fs|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Frame_Shift_Del_p.S268fs|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Frame_Shift_Del_p.S210fs	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	268					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGATGCCTACTTAGGCTTCCA	0.453																																																	0													113	104	107					16																	71483126		2198	4300	6498	SO:0001589	frameshift_variant	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"Zinc fingers, C2H2-type"	13023	protein-coding gene	gene with protein product		194527	"zinc finger protein 359"	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.802delA	16.37:g.71483126delT	ENSP00000377171:p.Ser268fs		Q8NDP5|Q96IT3|Q9UG42	Frame_Shift_Del	DEL	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S268fs	ENST00000393539.2	37	c.802	CCDS10900.1	16																																																																																			ZNF23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.453	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23		0	76	0	T	NM_145911		71483126	-1	tier1		no_errors	ENST00000357254	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	0.000	-	-	71483126	T	-	71483126	7	5	108	1	0	1	0	1	0	0	0	0	17831	1609	56	0	1133	0	ZNF23	16	71483126	Frame_Shift_Del	DEL	T	TCGA-LN-A49W-01A-11D-A27G-09	6501613	71483126	18871627	112	29645											
TP53	7157	genome.wustl.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	332	0	G	NM_000546		7577121	-1	tier1	rs121913343	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	34.68	194	103	SNP	0.830	A	A	7577121	G	A	7577121	3	1	108	1	0	0	0	0	1	0	0	0	16429	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09		7577121	73618089	113	29646											
THRA	7067	genome.wustl.edu	37	chr17	38245543	38245543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagcactacgtcaaccaccGcaaacacaacattccgcact	14	5	5	17	4	1	0	1	0	0	0	2	1	2	0	3	0	5	3	3	0	4	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:38245543G>A	ENST00000264637.4	+	9	1647	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000450525.2_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H|THRA_ENST00000394121.4_Missense_Mutation_p.R356H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	356	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCAACCACCGCAAACACAAC	0.597																																																	0													257	196	217					17																	38245543		2203	4300	6503	SO:0001583	missense	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"Nuclear hormone receptors"	11796	protein-coding gene	gene with protein product		190120	"thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)", "thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.1067G>A	17.37:g.38245543G>A	ENSP00000264637:p.Arg356His		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R356H	ENST00000264637.4	37	c.1067	CCDS11360.1	17	.	.	.	.	.	.	.	.	.	.	g	25.5	4.648442	0.87958	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	4.5	4.5	0.54988	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	L	0.56396	1.775	0.80722	D	1	D;D;D	0.65815	0.991;0.971;0.995	P;P;P	0.58620	0.806;0.842;0.659	D	0.96930	0.9680	10	0.52906	T	0.07	.	16.1444	0.81555	0.0:0.0:1.0:0.0	.	356;356;356	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	356	ENSP00000377679:R356H;ENSP00000264637:R356H;ENSP00000395641:R356H;ENSP00000443972:R356H	ENSP00000264637:R356H	R	+	2	0	THRA	35499069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.520000	0.81821	2.319000	0.78375	0.424000	0.28305	CGC	THRA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000126351		0.597	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2		0	33	0	G			38245543	1			no_errors	ENST00000264637	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	A	A	38245543	G	A	38245543	3	1	108	1	0	0	0	0	1	0	0	0	15920	1087	38	1	1097	1	THRA	17	38245543	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	30668422	38245543	42949667	114	29647											
HOXB7	3217	genome.wustl.edu	37	chr17	46688090	46688090	+	Frame_Shift_Del	DEL	C	C	-																															ccgcgctctggcccgccatgCcccccccgccggggtacaag																								rs201998748		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:46688090delC	ENST00000239165.7	-	1	289	c.191delG	c.(190-192)ggcfs	p.G64fs	HOXB7_ENST00000567101.2_Intron	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	64					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GCCCGCCATGCCCCCCCCGCC	0.692																																																	0										53,62,3713		2,0,49,5,52,1806	6	8	7			3.2	1	17		7	150,118,7256		9,0,132,1,116,3504	no	codingComplex	HOXB7	NM_004502.3		11,0,181,6,168,5310	A1A1,A1A2,A1R,A2A2,A2R,RR		3.5619,3.0042,3.3739			46688090	203,180,10969	2064	4053	6117	SO:0001589	frameshift_variant	0				CCDS11532.1	17q21.32	2013-05-22	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	5118	protein-coding gene	gene with protein product		142962	"homeo box B7"	HOX2, HOX2C		1973146, 1358459	Standard	NM_004502		Approved		uc002inv.3	P09629	OTTHUMG00000170231	ENST00000239165.7:c.191delG	17.37:g.46688090delC	ENSP00000239165:p.Gly64fs		A8K3N8|Q15957|Q53FN3|Q96BQ6	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.G64fs	ENST00000239165.7	37	c.191	CCDS11532.1	17																																																																																			HOXB7	-	NULL	ENSG00000260027		0.692	HOXB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB7	HGNC	protein_coding	OTTHUMT00000358097.3		0	26	0	C			46688090	-1	tier1		no_errors	ENST00000239165	ensembl	human	known	74_37	frame_shift_del	21.43	11	3	DEL	1.000	-	-	46688090	C	-	46688090	7	5	108	1	0	1	0	1	0	0	0	0	7333	739	26	0	470	0	HOXB7	17	46688090	Frame_Shift_Del	DEL	C	TCGA-LN-A49W-01A-11D-A27G-09	8442547	46688090	34507120	115	29648											
ANKFN1	162282	genome.wustl.edu	37	chr17	54450102	54450102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggtggagaatgaaGgattcactctggacaacaca	13	7	11	10	0	2	2	1	1	1	1	2	5	2	4	1	4	2	0	1	4	3	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:54450102G>C	ENST00000318698.2	+	6	741	c.706G>C	c.(706-708)Gga>Cga	p.G236R	ANKFN1_ENST00000566473.2_Missense_Mutation_p.G236R	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	236										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGAGAATGAAGGATTCACTCT	0.522																																																	0													174	160	165					17																	54450102		2203	4300	6503	SO:0001583	missense	0			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.706G>C	17.37:g.54450102G>C	ENSP00000321627:p.Gly236Arg			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.G236R	ENST00000318698.2	37	c.706	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346812	0.41599	.	.	ENSG00000153930	ENST00000318698	T	0.24723	1.84	5.78	4.81	0.61882	.	0.095769	0.64402	D	0.000001	T	0.25938	0.0632	L	0.60455	1.87	0.46437	D	0.999049	P	0.45902	0.868	B	0.42319	0.383	T	0.04440	-1.0951	10	0.16896	T	0.51	-6.5059	12.0996	0.53776	0.1379:0.0:0.8621:0.0	.	236	Q8N957	ANKF1_HUMAN	R	236	ENSP00000321627:G236R	ENSP00000321627:G236R	G	+	1	0	ANKFN1	51805101	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	4.409000	0.59768	1.445000	0.47624	0.563000	0.77884	GGA	ANKFN1	-	NULL	ENSG00000153930		0.522	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	-	0	57	0	G	NM_153228		54450102	1	tier1	-	no_errors	ENST00000318698	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	C	C	54450102	G	C	54450102	3	2	108	1	0	0	0	0	1	0	0	0	625	1001	35	5	728	5	ANKFN1	17	54450102	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	7762012	54450102	26745108	116	29649											
CCDC47	57003	genome.wustl.edu	37	chr17	61831840	61831840	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctgaaaaatgaacagaTtcaatcttgtcagcatagtg	14	12	9	6	0	4	3	2	2	2	1	4	3	4	3	0	1	2	1	0	1	5	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr17:61831840T>C	ENST00000225726.5	-	9	1369	c.987A>G	c.(985-987)gaA>gaG	p.E329E	CCDC47_ENST00000582252.1_Silent_p.E329E|RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000403162.3_Silent_p.E329E	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	329					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AATGAACAGATTCAATCTTGT	0.299																																																	0													53	55	54					17																	61831840		2203	4300	6503	SO:0001819	synonymous_variant	0			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.987A>G	17.37:g.61831840T>C			B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Silent	SNP	pfam_DUF1682	p.E329	ENST00000225726.5	37	c.987	CCDS11643.1	17																																																																																			CCDC47	-	pfam_DUF1682	ENSG00000108588		0.299	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2		0	14	0	T	NM_020198		61831840	-1			no_errors	ENST00000225726	ensembl	human	known	74_37	silent	33.33	6	3	SNP	1.000	C	C	61831840	T	C	61831840	2	2	108	1	0	0	0	0	0	0	0	1	2825	1490	52	4		4	CCDC47	17	61831840	Silent	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	7381738	61831840	19363370	117	29650											
METTL4	64863	genome.wustl.edu	37	chr18	2554941	2554941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaaagtaatgggcttacTacccttgtcctgtttttcaa	9	16	8	8	0	1	0	1	0	0	0	2	0	2	0	2	2	2	4	2	2	6	7			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:2554941T>C	ENST00000574538.1	-	4	1331	c.556A>G	c.(556-558)Agt>Ggt	p.S186G	METTL4_ENST00000319888.6_Missense_Mutation_p.S186G|snoU109_ENST00000459316.1_RNA	NM_022840.3	NP_073751.3	Q8N3J2	METL4_HUMAN	methyltransferase like 4	186					nucleobase-containing compound metabolic process (GO:0006139)		methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATGGGCTTACTACCCTTGTCC	0.398																																																	0													123	123	123					18																	2554941		2203	4300	6503	SO:0001583	missense	0				CCDS11826.1	18p11.31	2008-02-05			ENSG00000101574	ENSG00000101574			24726	protein-coding gene	gene with protein product						12477932	Standard	NM_022840		Approved	FLJ23017, HsT661	uc002klh.4	Q8N3J2	OTTHUMG00000131482	ENST00000574538.1:c.556A>G	18.37:g.2554941T>C	ENSP00000458290:p.Ser186Gly		B2RNA1|Q2TAA7|Q9H5U9	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.S186G	ENST00000574538.1	37	c.556	CCDS11826.1	18	.	.	.	.	.	.	.	.	.	.	T	3.494	-0.103290	0.06967	.	.	ENSG00000101574	ENST00000319888	T	0.23754	1.89	5.85	0.914	0.19360	.	0.927155	0.09273	N	0.824902	T	0.22742	0.0549	L	0.46741	1.465	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28267	-1.0049	10	0.30854	T	0.27	0.0038	10.3826	0.44121	0.0:0.3897:0.0:0.6103	.	186	Q8N3J2	METL4_HUMAN	G	186	ENSP00000320349:S186G	ENSP00000320349:S186G	S	-	1	0	METTL4	2544941	0.000000	0.05858	0.001000	0.08648	0.273000	0.26683	0.198000	0.17217	0.135000	0.18707	0.533000	0.62120	AGT	METTL4	-	NULL	ENSG00000101574		0.398	METTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL4	HGNC	protein_coding	OTTHUMT00000254326.3	-	0	40	0	T	NM_022840		2554941	-1	tier1	-	no_errors	ENST00000574538	ensembl	human	known	74_37	missense	9.76	37	4	SNP	0.000	C	C	2554941	T	C	2554941	3	2	108	1	0	0	0	0	1	0	0	0	9540	1522	53	4	886	4	METTL4	18	2554941	Missense_Mutation	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09		2554941	75522307	118	29651											
MPPE1	65258	genome.wustl.edu	37	chr18	11888683	11888683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacttaatgcctttccaaGaaaacagtctttcagagctg	12	12	6	11	0	3	2	2	0	1	2	4	2	4	2	2	0	3	1	2	0	4	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:11888683G>C	ENST00000588072.1	-	6	1775	c.554C>G	c.(553-555)tCt>tGt	p.S185C	MPPE1_ENST00000399978.2_Missense_Mutation_p.S185C|MPPE1_ENST00000309976.9_Missense_Mutation_p.S185C|MPPE1_ENST00000317235.7_Missense_Mutation_p.S185C|MPPE1_ENST00000344987.7_Missense_Mutation_p.S185C	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	185					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCCTTTCCAAGAAAACAGTCT	0.363																																																	0													59	62	61					18																	11888683		2203	4298	6501	SO:0001583	missense	0			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.554C>G	18.37:g.11888683G>C	ENSP00000465894:p.Ser185Cys		B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	pfam_PEstase_dom	p.S185C	ENST00000588072.1	37	c.554	CCDS11853.1	18	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713410	0.68730	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	4.83	4.83	0.62350	Calcineurin-like phosphoesterase superfamily domain (1);	0.152963	0.64402	D	0.000015	T	0.43411	0.1246	M	0.73962	2.25	0.44092	D	0.99685	D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.999;0.998;0.999	D;D;D;D;D;D	0.73380	0.936;0.98;0.935;0.947;0.936;0.957	T	0.39035	-0.9633	10	0.54805	T	0.06	-11.0482	17.8704	0.88808	0.0:0.0:1.0:0.0	.	185;185;88;185;185;185	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	C	185;185;88;185;185	ENSP00000327257:S185C;ENSP00000311200:S185C;ENSP00000312935:S88C;ENSP00000339423:S185C;ENSP00000382860:S185C	ENSP00000311200:S185C	S	-	2	0	MPPE1	11878683	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.916000	0.75776	2.400000	0.81607	0.462000	0.41574	TCT	MPPE1	-	NULL	ENSG00000154889		0.363	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	-	0	36	0	G	NM_023075		11888683	-1	tier1	-	no_errors	ENST00000588072	ensembl	human	known	74_37	missense	23.68	29	9	SNP	1.000	C	C	11888683	G	C	11888683	3	2	108	1	0	0	0	0	1	0	0	0	9778	942	33	5	660	5	MPPE1	18	11888683	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	9333742	11888683	66188565	119	29652											
CEP192	55125	genome.wustl.edu	37	chr18	13030462	13030462	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgggaattttattttttAgaaacagatctcccacagag	12	16	7	6	0	1	3	0	0	1	3	2	4	1	4	1	1	1	0	1	1	4	7	rs568015143		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:13030462A>G	ENST00000325971.8	+	11	1470		c.e11-1		CEP192_ENST00000430049.2_Splice_Site|CEP192_ENST00000506447.1_Splice_Site			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa						centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTATTTTTTAGAAACAGATC	0.308													A|||	1	0.000199681	0	0	5008	,	,		18871	0		0	False		,,,				2504	0.001																0													52	46	48					18																	13030462		692	1589	2281	SO:0001630	splice_region_variant	0			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	25515	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 62"					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.-123-1A>G	18.37:g.13030462A>G			A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Splice_Site	SNP	-	e10-2	ENST00000325971.8	37	c.1391-2		18	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271732	0.40194	.	.	ENSG00000101639	ENST00000506447;ENST00000430049	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.35	0.55143	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP192	13020462	1.000000	0.71417	0.940000	0.37924	0.486000	0.33341	3.129000	0.50500	1.980000	0.57719	0.260000	0.18958	.	CEP192	-	-	ENSG00000101639		0.308	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		-	0	42	0	A	NM_032142	Intron	13030462	1	tier1	-	no_errors	ENST00000506447	ensembl	human	known	74_37	splice_site	15.38	33	6	SNP	1.000	G	G	13030462	A	G	13030462	5	3	108	1	0	0	0	0	0	0	1	0	3258	434	15	4	1427	4	CEP192	18	13030462	Splice_Site	SNP	A	TCGA-LN-A49W-01A-11D-A27G-09	1141779	13030462	65046786	120	29653											
LAMA3	3909	genome.wustl.edu	37	chr18	21329508	21329508	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacctttggaaaatggtGaggtaagtagatttggaaga	13	13	13	2	0	0	3	0	1	0	2	0	5	0	5	1	4	1	3	1	4	6	6			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr18:21329508G>T	ENST00000313654.9	+	4	923	c.682G>T	c.(682-684)Gag>Tag	p.E228*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.E228*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	228	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GGAAAATGGTGAGGTAAGTAG	0.398																																																	0													81	83	83					18																	21329508		1859	4095	5954	SO:0001587	stop_gained	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.682G>T	18.37:g.21329508G>T	ENSP00000324532:p.Glu228*		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.E228*	ENST00000313654.9	37	c.682	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	39	7.387934	0.98252	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000324532:E228X	E	+	1	0	LAMA3	19583506	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.891000	0.92485	2.776000	0.95493	0.655000	0.94253	GAG	LAMA3	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000053747		0.398	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	-	0	118	0	G	NM_000227, NM_198129		21329508	1	tier1	-	no_errors	ENST00000313654	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T	T	21329508	G	T	21329508	4	4	108	1	0	0	0	0	0	1	0	0	8635	1291	45	3	696	3	LAMA3	18	21329508	Nonsense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	8299046	21329508	56747740	121	29654											
SPPL2B	56928	genome.wustl.edu	37	chr19	2334616	2334616	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggcctgtgagtacGgcatggtgcacgtggtctcc	5	10	16	10	2	1	1	0	1	1	0	2	1	1	1	2	5	3	4	2	5	1	1	rs377325090		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:2334616G>T	ENST00000452401.2	+	0	162							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGAGTACGGCATGGTGCA	0.662																																																	0													28	33	32					19																	2334616		2108	4212	6320			0				CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"intramembrane protease 4"	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2334616G>T			D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	SNP	-	NULL	ENST00000452401.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	g	18.33	3.599391	0.66332	.	.	ENSG00000005206	ENST00000452401;ENST00000382189	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.81211	0.4775	M	0.86953	2.85	0.47778	D	0.999518	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	D	0.86499	0.1802	8	0.62326	D	0.03	-37.9155	15.3039	0.73976	0.0:0.0:1.0:0.0	.	28;28;28	A6NFV1;Q8TCT7;C9JFE6	.;PSL1_HUMAN;.	C	28	.	ENSP00000371624:G28C	G	+	1	0	AC004410.1	2285616	1.000000	0.71417	0.995000	0.50966	0.407000	0.30961	7.367000	0.79558	1.949000	0.56562	0.555000	0.69702	GGC	SPPL2B	-	-	ENSG00000005206		0.662	SPPL2B-202	KNOWN	basic	processed_transcript	SPPL2B	HGNC	processed_transcript		-	0	120	0	G	NM_020172		2334616	1	tier1	-	no_errors	ENST00000382189	ensembl	human	known	74_37	rna	27.14	51	19	SNP	1.000	T	T	2334616	G	T	2334616	1	4	108	0	1	0	0	0	0	0	0	0	15136	1116	39	2		2	SPPL2B	19	2334616	RNA	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09		2334616	56794367	122	29655											
SAFB	6294	genome.wustl.edu	37	chr19	5661536	5661536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgttgtgcagcagggtgCgtgaacgcagtgaacgcgaa	10	8	15	8	4	0	2	0	2	0	0	0	3	0	2	0	1	6	4	0	1	4	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:5661536C>T	ENST00000292123.5	+	15	1977	c.1870C>T	c.(1870-1872)Cgt>Tgt	p.R624C	SAFB_ENST00000433404.1_Missense_Mutation_p.R454C|SAFB_ENST00000592224.1_Missense_Mutation_p.R623C|SAFB_ENST00000588852.1_Missense_Mutation_p.R624C|SAFB_ENST00000454510.1_Missense_Mutation_p.R555C|SAFB_ENST00000538656.1_Missense_Mutation_p.R466C	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	624	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAGCAGGGTGCGTGAACGCAG	0.632																																					Colon(88;338 1345 6184 8214 20897)												0													40	45	44					19																	5661536		2202	4296	6498	SO:0001583	missense	0			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"RNA binding motif (RRM) containing"	10520	protein-coding gene	gene with protein product	"Hsp27 ERE-TATA binding protein"	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1870C>T	19.37:g.5661536C>T	ENSP00000292123:p.Arg624Cys		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.R624C	ENST00000292123.5	37	c.1870	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917105	0.33815	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.17528	2.3;2.5;2.27;2.33	5.27	4.22	0.49857	.	0.123406	0.33959	N	0.004389	T	0.15565	0.0375	L	0.52206	1.635	0.80722	D	1	B;B;B;B;B;B;B	0.31640	0.225;0.225;0.333;0.225;0.225;0.225;0.225	B;B;B;B;B;B;B	0.25506	0.028;0.028;0.061;0.028;0.028;0.028;0.028	T	0.02966	-1.1088	10	0.62326	D	0.03	-15.7513	11.1306	0.48345	0.1293:0.7994:0.0:0.0713	.	423;466;555;623;624;624;623	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	C	555;519;454;624;466	ENSP00000415895:R555C;ENSP00000404545:R454C;ENSP00000292123:R624C;ENSP00000438880:R466C	ENSP00000292123:R624C	R	+	1	0	SAFB	5612536	0.822000	0.29219	0.974000	0.42286	0.261000	0.26267	1.438000	0.35002	2.625000	0.88918	0.455000	0.32223	CGT	SAFB	-	NULL	ENSG00000160633		0.632	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	-	0	35	0	C			5661536	1	tier1	-	no_errors	ENST00000588852	ensembl	human	known	74_37	missense	16.13	26	5	SNP	0.778	T	T	5661536	C	T	5661536	3	4	108	1	0	0	0	0	1	0	0	0	13851	768	27	1	1928	1	SAFB	19	5661536	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	3326920	5661536	53467447	123	29656											
ICAM5	7087	genome.wustl.edu	37	chr19	10403909	10403909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggtcaaggacgtaacGctaacggtggagtgtgagtg	10	7	18	6	4	1	1	1	1	0	0	1	4	1	3	0	5	2	2	0	5	3	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:10403909G>A	ENST00000221980.4	+	6	1515	c.1452G>A	c.(1450-1452)acG>acA	p.T484T		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	484	Ig-like C2-type 5.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGGACGTAACGCTAACGGTGG	0.612																																																	0													75	57	63					19																	10403909		2198	4296	6494	SO:0001819	synonymous_variant	0			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5348	protein-coding gene	gene with protein product	"telencephalin"	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1452G>A	19.37:g.10403909G>A			Q9Y6F3	Silent	SNP	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.T484	ENST00000221980.4	37	c.1452	CCDS12233.1	19																																																																																			ICAM5	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000105376		0.612	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	HGNC	protein_coding	OTTHUMT00000451217.1	-	0	45	0	G	NM_003259		10403909	1	tier1	-	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	13.89	31	5	SNP	0.487	A	A	10403909	G	A	10403909	2	1	108	1	0	0	0	0	0	0	0	1	7510	1074	38	1		1	ICAM5	19	10403909	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	4742373	10403909	48725074	124	29657											
RGL3	57139	genome.wustl.edu	37	chr19	11527321	11527321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagctcagatcttgtaccGctgtcttcttgatctctacc	7	15	7	12	1	5	3	1	2	4	1	6	3	5	3	2	0	3	3	2	0	3	5	rs140982044		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:11527321G>A	ENST00000380456.3	-	4	455	c.392C>T	c.(391-393)gCg>gTg	p.A131V	RGL3_ENST00000393423.3_Missense_Mutation_p.A131V	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	131	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ATCTTGTACCGCTGTCTTCTT	0.567																																					GBM(174;751 2067 17998 27979 33959)												0								G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	112	103	106		392,392	0.6	0	19	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RGL3	NM_001035223.2,NM_001161616.1	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	131/711,131/717	11527321	2,13004	2203	4300	6503	SO:0001583	missense	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.392C>T	19.37:g.11527321G>A	ENSP00000369823:p.Ala131Val		B5ME84|B7ZL22|Q0P6G0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A131V	ENST00000380456.3	37	c.392	CCDS32910.1	19	.	.	.	.	.	.	.	.	.	.	G	9.520	1.108001	0.20714	2.27E-4	1.16E-4	ENSG00000205517	ENST00000393423;ENST00000380456;ENST00000453604	T;T	0.48522	0.81;0.81	3.95	0.579	0.17397	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	1.340130	0.04740	N	0.422723	T	0.34395	0.0896	L	0.40543	1.245	0.09310	N	1	B;P	0.47677	0.128;0.899	B;B	0.40410	0.053;0.328	T	0.16630	-1.0396	10	0.30078	T	0.28	.	1.251	0.01982	0.1736:0.1087:0.2021:0.5156	.	131;131	Q3MIN7;B5ME84	RGL3_HUMAN;.	V	131	ENSP00000377075:A131V;ENSP00000369823:A131V	ENSP00000369823:A131V	A	-	2	0	RGL3	11388321	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.010000	0.12743	-0.073000	0.12842	-1.432000	0.01085	GCG	RGL3	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000205517		0.567	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	-	0	117	0	G	XM_290867		11527321	-1	tier1	rs140982044	no_errors	ENST00000393423	ensembl	human	known	74_37	missense	5.26	90	5	SNP	0.001	A	A	11527321	G	A	11527321	3	1	108	1	0	0	0	0	1	0	0	0	13323	1087	38	1	1822	1	RGL3	19	11527321	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	1123412	11527321	47601662	125	29658											
LSM14A	26065	genome.wustl.edu	37	chr19	34710734	34710735	+	Frame_Shift_Ins	INS	-	-	T																															cttggacctaattgctattaINStgacaaaactaaatccttct																										TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:34710734_34710735insT	ENST00000433627.5	+	8	1163_1164	c.1088_1089insT	c.(1087-1092)tatgacfs	p.D364fs	LSM14A_ENST00000544216.3_Frame_Shift_Ins_p.D364fs|LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.D323fs	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	364					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AATTGCTATTATGACAAAACTA	0.332																																																	0																																										SO:0001589	frameshift_variant	0			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"chromosome 19 open reading frame 13", "family with sequence similarity 61, member A", "LSM14 homolog A (SCD6, S. cerevisiae)"	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.1089dupT	19.37:g.34710735_34710735dupT	ENSP00000413964:p.Asp364fs		B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Frame_Shift_Ins	INS	pfam_FDF_dom,superfamily_LSM_dom	p.D364fs	ENST00000433627.5	37	c.1088_1089	CCDS46040.1	19																																																																																			LSM14A	-	NULL	ENSG00000257103		0.332	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3		0	60	0	-	NM_015578		34710735	1	tier1		no_errors	ENST00000433627	ensembl	human	known	74_37	frame_shift_ins	12.77	41	6	INS	1.000:1.000	T	T	34710735	-	T	34710734	7	5	108	1	0	1	1	0	0	0	0	0	9089	449	16	0	1118	0	LSM14A	19	34710734	Frame_Shift_Ins	INS	-	TCGA-LN-A49W-01A-11D-A27G-09	23183413	34710734	24418249	126	29659											
ATP4A	495	genome.wustl.edu	37	chr19	36053377	36053377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccctcactagcctggatgGcaaaggcgatgaggcagatg	10	6	13	12	1	1	2	1	1	0	1	1	4	1	3	3	4	1	2	3	4	2	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:36053377G>A	ENST00000262623.3	-	4	408	c.380C>T	c.(379-381)gCc>gTc	p.A127V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	127					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	AGCCTGGATGGCAAAGGCGAT	0.642																																																	0													66	51	56					19																	36053377		2203	4300	6503	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"ATPases / P-type"	819	protein-coding gene	gene with protein product	"gastric H,K-ATPase alpha subunit", "H(+)-K(+)-ATPase alpha subunit", "proton pump"	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.380C>T	19.37:g.36053377G>A	ENSP00000262623:p.Ala127Val		O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.A127V	ENST00000262623.3	37	c.380	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	g	14.17	2.455777	0.43634	.	.	ENSG00000105675	ENST00000262623	D	0.87729	-2.29	3.81	1.42	0.22433	ATPase, P-type cation-transporter, N-terminal (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.106070	0.07110	N	0.841988	T	0.80071	0.4556	N	0.25890	0.77	0.29527	N	0.853064	B	0.02656	0.0	B	0.04013	0.001	T	0.68903	-0.5286	10	0.40728	T	0.16	.	10.6996	0.45920	0.0:0.5561:0.4439:0.0	.	127	P20648	ATP4A_HUMAN	V	127	ENSP00000262623:A127V	ENSP00000262623:A127V	A	-	2	0	ATP4A	40745217	0.992000	0.36948	0.999000	0.59377	0.996000	0.88848	0.656000	0.24948	0.798000	0.33994	0.567000	0.79289	GCC	ATP4A	-	smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105675		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2		0	62	0	G	NM_000704		36053377	-1			no_errors	ENST00000262623	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.997	A	A	36053377	G	A	36053377	3	1	108	1	0	0	0	0	1	0	0	0	1146	1203	42	3	2803	3	ATP4A	19	36053377	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	1342643	36053377	23075606	127	29660											
ZNF570	148268	genome.wustl.edu	37	chr19	37975902	37975902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgactcgtcccttactcaaCatcagcgagttcatactgga	11	11	7	12	2	3	1	3	1	0	0	5	3	4	2	1	1	4	1	1	1	3	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:37975902C>T	ENST00000330173.1	+	5	1907	c.1378C>T	c.(1378-1380)Cat>Tat	p.H460Y	CTD-2086O20.3_ENST00000591976.1_lincRNA|ZNF570_ENST00000586475.1_Missense_Mutation_p.H516Y|ZNF570_ENST00000388801.3_Missense_Mutation_p.H257Y	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	460					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTACTCAACATCAGCGAGT	0.423																																																	0													117	113	115					19																	37975902		2203	4300	6503	SO:0001583	missense	0			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"Zinc fingers, C2H2-type", "-"	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1378C>T	19.37:g.37975902C>T	ENSP00000331540:p.His460Tyr		A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H460Y	ENST00000330173.1	37	c.1378	CCDS12504.1	19	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799606	0.70567	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	D;D	0.86769	-2.17;-2.17	4.16	4.16	0.48862	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.336984	0.21783	N	0.069166	D	0.95360	0.8494	H	0.95780	3.72	0.49051	D	0.999744	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.96728	0.9537	10	0.87932	D	0	.	15.7256	0.77756	0.0:1.0:0.0:0.0	.	257;460	B4DMP1;Q96NI8	.;ZN570_HUMAN	Y	460;257	ENSP00000331540:H460Y;ENSP00000373453:H257Y	ENSP00000331540:H460Y	H	+	1	0	ZNF570	42667742	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.311000	0.78958	2.299000	0.77371	0.563000	0.77884	CAT	ZNF570	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171827		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	-	0	44	0	C	NM_144694		37975902	1	tier1	-	no_errors	ENST00000330173	ensembl	human	known	74_37	missense	13.64	38	6	SNP	1.000	T	T	37975902	C	T	37975902	3	4	108	1	0	0	0	0	1	0	0	0	18050	478	17	3	1392	3	ZNF570	19	37975902	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	1922525	37975902	21153081	128	29661											
RDH13	112724	genome.wustl.edu	37	chr19	55559827	55559827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctatgtgcccagcaacatgGgccagggacgagaggttgat	10	8	14	9	1	1	2	0	1	1	1	1	4	1	3	2	3	3	2	2	3	2	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr19:55559827G>A	ENST00000415061.3	-	5	671	c.528C>T	c.(526-528)gcC>gcT	p.A176A	RDH13_ENST00000396247.3_Silent_p.A105A|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	176					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CAGCAACATGGGCCAGGGACG	0.527																																																	0													78	80	80					19																	55559827		2018	4180	6198	SO:0001819	synonymous_variant	0				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	19978	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 7C, member 3"		"retinol dehydrogenase 13 (all-trans and 9-cis)"			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.528C>T	19.37:g.55559827G>A			Q6UX79|Q96G88	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A176	ENST00000415061.3	37	c.528	CCDS54320.1	19																																																																																			RDH13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH	ENSG00000160439		0.527	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1		0	44	0	G	NM_138412		55559827	-1			no_errors	ENST00000415061	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.963	A	A	55559827	G	A	55559827	2	1	108	1	0	0	0	0	0	0	0	1	13237	1219	43	3		3	RDH13	19	55559827	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	17583925	55559827	3569156	129	29662											
PLAGL2	5326	genome.wustl.edu	37	chr20	30784583	30784583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcatctaggagggccGcagctgccgccggctgaggt	5	8	16	12	3	2	1	1	1	1	0	2	2	2	2	3	4	3	4	3	4	1	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr20:30784583G>A	ENST00000246229.4	-	3	1427	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	388					chylomicron assembly (GO:0034378)|lipid metabolic process (GO:0006629)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|post-embryonic development (GO:0009791)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TAGGAGGGCCGCAGCTGCCGC	0.612																																					Colon(163;15 1893 11280 16306 47518)												0													19	21	20					20																	30784583		2200	4299	6499	SO:0001583	missense	0				CCDS13197.1	20q11.21	2013-01-08			ENSG00000126003	ENSG00000126003		"Zinc fingers, C2H2-type"	9047	protein-coding gene	gene with protein product	"C2H2-type zinc finger protein"	604866				15585652, 17950244	Standard	NM_002657		Approved	ZNF900	uc002wxn.2	Q9UPG8	OTTHUMG00000032210	ENST00000246229.4:c.1163C>T	20.37:g.30784583G>A	ENSP00000246229:p.Ala388Val		A8K8T5|E1P5M3|Q92584	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A388V	ENST00000246229.4	37	c.1163	CCDS13197.1	20	.	.	.	.	.	.	.	.	.	.	G	10.76	1.442234	0.25987	.	.	ENSG00000126003	ENST00000246229	T	0.08282	3.11	4.13	4.13	0.48395	.	0.065191	0.64402	D	0.000011	T	0.03739	0.0106	N	0.08118	0	0.32486	N	0.540866	B	0.33694	0.421	B	0.23716	0.048	T	0.16660	-1.0395	10	0.40728	T	0.16	.	9.5865	0.39519	0.0:0.0:0.7914:0.2086	.	388	Q9UPG8	PLAL2_HUMAN	V	388	ENSP00000246229:A388V	ENSP00000246229:A388V	A	-	2	0	PLAGL2	30248244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.097000	0.64542	2.590000	0.87494	0.650000	0.86243	GCG	PLAGL2	-	NULL	ENSG00000126003		0.612	PLAGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL2	HGNC	protein_coding	OTTHUMT00000078615.2	-	0	52	0	G	NM_002657		30784583	-1	tier1	-	no_errors	ENST00000246229	ensembl	human	known	74_37	missense	17.65	28	6	SNP	1.000	A	A	30784583	G	A	30784583	3	1	108	1	0	0	0	0	1	0	0	0	12059	1087	38	1	331	1	PLAGL2	20	30784583	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09		30784583	32240937	130	29663											
NCOA6	23054	genome.wustl.edu	37	chr20	33330205	33330205	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggtaagatttgaaggtgcTtgcccgatggccttcaaagt	10	12	12	7	1	1	2	1	1	0	1	1	3	1	2	2	3	2	2	2	3	3	4			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr20:33330205T>C	ENST00000374796.2	-	12	6425	c.3855A>G	c.(3853-3855)caA>caG	p.Q1285Q	NCOA6_ENST00000359003.2_Silent_p.Q1285Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1285	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGAAGGTGCTTGCCCGATGG	0.413																																																	0													106	106	106					20																	33330205		2203	4300	6503	SO:0001819	synonymous_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"nuclear receptor coactivator RAP250", "activating signal cointegrator-2", "peroxisome proliferator-activated receptor interacting protein"	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3855A>G	20.37:g.33330205T>C			A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	NULL	p.Q1285	ENST00000374796.2	37	c.3855	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.413	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	-	0	87	0	T	NM_014071		33330205	-1	tier1	-	no_errors	ENST00000359003	ensembl	human	known	74_37	silent	13.46	45	7	SNP	1.000	C	C	33330205	T	C	33330205	2	2	108	1	0	0	0	0	0	0	0	1	10272	1606	56	4		4	NCOA6	20	33330205	Silent	SNP	T	TCGA-LN-A49W-01A-11D-A27G-09	2545622	33330205	29695315	131	29664											
PCIF1	63935	genome.wustl.edu	37	chr20	44573647	44573647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgagagaagcaccttgccatCctcaaggaaaacaacatctc	15	6	7	13	1	2	1	1	0	1	1	4	4	3	2	3	1	4	1	3	1	5	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr20:44573647C>T	ENST00000372409.3	+	11	1510	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	382					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACCTTGCCATCCTCAAGGAAA	0.542																																																	0													83	69	74					20																	44573647		2202	4300	6502	SO:0001819	synonymous_variant	0			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 121"		"chromosome 20 open reading frame 67"	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1146C>T	20.37:g.44573647C>T			E1P5P1|Q54AB9|Q9NT85	Silent	SNP	pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.I382	ENST00000372409.3	37	c.1146	CCDS13388.1	20																																																																																			PCIF1	-	NULL	ENSG00000100982		0.542	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	-	0	39	0	C	NM_022104		44573647	1	tier1	-	no_errors	ENST00000372409	ensembl	human	known	74_37	silent	16.67	40	8	SNP	1.000	T	T	44573647	C	T	44573647	2	4	108	1	0	0	0	0	0	0	0	1	11619	845	30	3		3	PCIF1	20	44573647	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	11243442	44573647	18451873	132	29665											
CABIN1	23523	genome.wustl.edu	37	chr22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaagcatgccacgcccGtcttgaactgcttccgtcgg	6	11	11	13	4	1	1	0	1	1	0	3	2	2	2	3	2	4	2	3	2	2	3	rs148592192		TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr22:24483514G>A	ENST00000398319.2	+	23	3758	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_ENST00000405822.2_Missense_Mutation_p.V1075I|CABIN1_ENST00000263119.5_Missense_Mutation_p.V1125I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1125					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577																																																	0								G	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	96	79	85		3373,3223,3373	4.1	0.7	22	dbSNP_134	85	0,8600		0,0,4300	no	missense,missense,missense	CABIN1	NM_001199281.1,NM_001201429.1,NM_012295.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1125/2221,1075/2171,1125/2221	24483514	1,13005	2203	4300	6503	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3373G>A	22.37:g.24483514G>A	ENSP00000381364:p.Val1125Ile		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V1125I	ENST00000398319.2	37	c.3373	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938576	0.52972	2.27E-4	0.0	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.75589	-0.95;-0.95;-0.95	5.1	4.09	0.47781	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	L	0.42245	1.32	0.80722	D	1	B;B	0.30793	0.295;0.036	B;B	0.17433	0.018;0.008	T	0.64437	-0.6408	10	0.48119	T	0.1	.	13.0002	0.58670	0.078:0.0:0.922:0.0	.	1075;1125	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	I	1125;1075;1125	ENSP00000263119:V1125I;ENSP00000384694:V1075I;ENSP00000381364:V1125I	ENSP00000263119:V1125I	V	+	1	0	CABIN1	22813514	1.000000	0.71417	0.708000	0.30435	0.331000	0.28603	7.919000	0.87513	1.318000	0.45170	-0.142000	0.14014	GTC	CABIN1	-	NULL	ENSG00000099991		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	-	0	51	0	G	NM_012295		24483514	1	tier1	rs148592192	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.996	A	A	24483514	G	A	24483514	3	1	108	1	0	0	0	0	1	0	0	0	2535	1145	40	1	3459	1	CABIN1	22	24483514	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09		24483514	26821052	133	29666											
LMF2	91289	genome.wustl.edu	37	chr22	50944766	50944766	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcttgaccacgcctgaGgcgaacatgaggcggaacag	11	5	14	11	3	1	3	1	3	0	0	1	5	1	4	2	3	3	1	2	3	2	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chr22:50944766G>T	ENST00000474879.2	-	4	558	c.543C>A	c.(541-543)gcC>gcA	p.A181A	LMF2_ENST00000505981.1_5'UTR|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000380796.3_Silent_p.A181A|NCAPH2_ENST00000420993.2_5'Flank|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000216080.5_Silent_p.A156A|NCAPH2_ENST00000395698.3_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	181						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGCCTGAGGCGAACATGA	0.711																																																	0													14	13	13					22																	50944766		2002	3969	5971	SO:0001819	synonymous_variant	0			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"transmembrane protein 153", "transmembrane protein 112B"	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.543C>A	22.37:g.50944766G>T			A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Silent	SNP	pfam_LMF	p.A181	ENST00000474879.2	37	c.543	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	g	11.59	1.684601	0.29872	.	.	ENSG00000100258	ENST00000487499	.	.	.	4.69	3.68	0.42216	.	.	.	.	.	T	0.58323	0.2114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54543	-0.8278	4	.	.	.	-9.1792	8.4574	0.32908	0.1814:0.0:0.8186:0.0	.	.	.	.	I	188	.	.	L	-	1	0	LMF2	49291632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.215000	0.32431	1.114000	0.41781	0.651000	0.88453	CTC	LMF2	-	pfam_LMF	ENSG00000100258		0.711	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	HGNC	protein_coding	OTTHUMT00000316833.2	-	0	28	0	G	NM_033200		50944766	-1	tier1	-	no_errors	ENST00000474879	ensembl	human	known	74_37	silent	21.43	11	3	SNP	1.000	T	T	50944766	G	T	50944766	2	4	108	1	0	0	0	0	0	0	0	1	8876	987	35	3		3	LMF2	22	50944766	Silent	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	26461252	50944766	359800	134	29667											
ARAF	369	genome.wustl.edu	37	chrX	47424691	47424691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtccggaggctccagaCagcatgaggctccctcgaac	9	8	11	13	2	0	2	0	1	0	1	4	4	3	3	3	3	2	3	3	3	1	1			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chrX:47424691C>A	ENST00000377045.4	+	6	693	c.499C>A	c.(499-501)Cag>Aag	p.Q167K	ARAF_ENST00000377039.2_Missense_Mutation_p.Q167K|ARAF_ENST00000290277.6_Missense_Mutation_p.Q167K	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	167					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	AGGCTCCAGACAGCATGAGGC	0.577																																																	0													70	61	64					X																	47424691		2203	4300	6503	SO:0001583	missense	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"v-raf murine sarcoma 3611 viral oncogene homolog 1"	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.499C>A	X.37:g.47424691C>A	ENSP00000366244:p.Gln167Lys		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.Q167K	ENST00000377045.4	37	c.499	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	c	13.15	2.151778	0.38021	.	.	ENSG00000078061	ENST00000377045;ENST00000290277;ENST00000377039	T;D;D	0.94092	-0.74;-3.35;-3.34	5.52	4.63	0.57726	.	0.372637	0.30277	N	0.009987	D	0.89560	0.6750	L	0.51422	1.61	0.28322	N	0.922203	B;B	0.22276	0.032;0.067	B;B	0.21917	0.028;0.037	T	0.80747	-0.1244	10	0.31617	T	0.26	.	10.036	0.42129	0.0:0.7825:0.2175:0.0	.	167;33	P10398;B4DV85	ARAF_HUMAN;.	K	167	ENSP00000366244:Q167K;ENSP00000290277:Q167K;ENSP00000366238:Q167K	ENSP00000290277:Q167K	Q	+	1	0	ARAF	47309635	1.000000	0.71417	0.999000	0.59377	0.712000	0.41017	1.951000	0.40333	2.554000	0.86153	0.591000	0.81541	CAG	ARAF	-	NULL	ENSG00000078061		0.577	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	-	0	48	0	C			47424691	1	tier1	-	no_errors	ENST00000377045	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.958	A	A	47424691	C	A	47424691	3	1	108	1	0	0	0	0	1	0	0	0	837	479	17	3	517	3	ARAF	23	47424691	Missense_Mutation	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09		47424691	107845869	135	29668											
PCDH19	57526	genome.wustl.edu	37	chrX	99662990	99662990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgattcggaagctgtagtgCgactgcgtctcgcggtccag	6	10	15	10	5	1	1	0	1	1	0	4	3	2	2	1	2	3	2	1	2	2	2			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chrX:99662990C>T	ENST00000373034.4	-	1	2281	c.606G>A	c.(604-606)tcG>tcA	p.S202S	PCDH19_ENST00000255531.7_Silent_p.S202S|PCDH19_ENST00000420881.2_Silent_p.S202S	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S202S(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCTGTAGTGCGACTGCGTCT	0.632																																																	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)											55	58	57					X																	99662990		2163	4238	6401	SO:0001819	synonymous_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.606G>A	X.37:g.99662990C>T			B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S202	ENST00000373034.4	37	c.606	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165194		0.632	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	-	0	26	0	C	NM_020766		99662990	-1	tier1	-	no_errors	ENST00000373034	ensembl	human	known	74_37	silent	22.86	27	8	SNP	0.094	T	T	99662990	C	T	99662990	2	4	108	1	0	0	0	0	0	0	0	1	11553	755	27	1		1	PCDH19	23	99662990	Silent	SNP	C	TCGA-LN-A49W-01A-11D-A27G-09	52238299	99662990	55607570	136	29669											
KIAA1210	57481	genome.wustl.edu	37	chrX	118257580	118257580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagaacatccagactgtcaGaaatttcacttagtgattca	14	11	6	10	0	3	4	3	1	0	3	4	4	4	4	2	0	1	0	2	0	3	3			TCGA-LN-A49W-01A-11D-A27G-09	TCGA-LN-A49W-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ade64252-be4f-49a4-bb7a-6becd25e9660	c222ce91-3136-4f1b-8947-b4a83e4df95e	g.chrX:118257580G>A	ENST00000402510.2	-	3	445	c.446C>T	c.(445-447)tCt>tTt	p.S149F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	149								p.S149F(1)|p.S9F(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CAGACTGTCAGAAATTTCACT	0.348																																																	2	Substitution - Missense(2)	breast(2)											64	54	57					X																	118257580		1849	4076	5925	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.446C>T	X.37:g.118257580G>A	ENSP00000384670:p.Ser149Phe		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.S149F	ENST00000402510.2	37	c.446	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	G	6.039	0.375558	0.11409	.	.	ENSG00000250423	ENST00000402510	T	0.11169	2.8	4.06	2.28	0.28536	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	D	0.56746	0.977	P	0.53809	0.735	T	0.30909	-0.9962	9	0.72032	D	0.01	.	11.8418	0.52359	0.0:0.3275:0.6725:0.0	.	149	Q9ULL0	K1210_HUMAN	F	149	ENSP00000384670:S149F	ENSP00000384670:S149F	S	-	2	0	RP13-347D8.6	118141608	0.127000	0.22367	0.000000	0.03702	0.005000	0.04900	2.401000	0.44513	0.146000	0.19002	-0.921000	0.02739	TCT	KIAA1210	-	NULL	ENSG00000250423		0.348	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0	22	0	G	NM_020721		118257580	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	22.73	17	5	SNP	0.000	A	A	118257580	G	A	118257580	3	1	108	1	0	0	0	0	1	0	0	0	8241	942	33	3	4731	3	KIAA1210	23	118257580	Missense_Mutation	SNP	G	TCGA-LN-A49W-01A-11D-A27G-09	18594590	118257580	37012980	137	29670											
CLDN19	149461	genome.wustl.edu	37	chr1	43204241	43204241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaccatcagggcccgcGctgattggatgtgacctagg	8	7	12	14	2	1	2	1	2	0	0	1	3	1	3	5	3	0	1	5	3	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:43204241G>A	ENST00000296387.1	-	2	429	c.239C>T	c.(238-240)gCg>gTg	p.A80V	CLDN19_ENST00000539749.1_Missense_Mutation_p.A80V|CLDN19_ENST00000372539.3_Missense_Mutation_p.A80V	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19	80					apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGGGCCCGCGCTGATTGGAT	0.652																																																	0													54	45	48					1																	43204241		2203	4300	6503	SO:0001583	missense	0			AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"Claudins"	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.239C>T	1.37:g.43204241G>A	ENSP00000296387:p.Ala80Val		B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.A80V	ENST00000296387.1	37	c.239	CCDS471.1	1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724337	0.48728	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	D;D;D	0.86297	-2.1;-2.1;-2.1	5.02	5.02	0.67125	.	0.313877	0.35903	N	0.002910	D	0.88134	0.6355	M	0.62723	1.935	0.09310	N	1	D;B;P	0.54964	0.969;0.446;0.502	P;B;B	0.47891	0.56;0.146;0.327	D	0.83386	0.0015	10	0.59425	D	0.04	.	15.8289	0.78736	0.0:0.0:1.0:0.0	.	80;80;80	F5H5P9;Q8N6F1-2;Q8N6F1	.;.;CLD19_HUMAN	V	80	ENSP00000296387:A80V;ENSP00000443229:A80V;ENSP00000361617:A80V	ENSP00000296387:A80V	A	-	2	0	CLDN19	42976828	0.890000	0.30428	0.566000	0.28421	0.558000	0.35554	3.984000	0.56923	2.331000	0.79229	0.462000	0.41574	GCG	CLDN19	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000164007		0.652	CLDN19-001	KNOWN	basic|CCDS	protein_coding	CLDN19	HGNC	protein_coding	OTTHUMT00000019788.1		0	64	0	G	NM_148960		43204241	-1			no_errors	ENST00000296387	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.087	A	A	43204241	G	A	43204241	3	1	109	1	0	0	0	0	1	0	0	0	3487	1087	38	1	567	1	CLDN19	1	43204241	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09		43204241	206046380	1	29671											
AGBL4	84871	genome.wustl.edu	37	chr1	49511430	49511430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagttcttcctatggtcCgggcagcggtagtagtaaac	10	11	11	9	2	1	0	0	0	1	0	3	0	3	0	2	3	2	5	2	3	6	7			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:49511430C>T	ENST00000371839.1	-	5	536	c.420G>A	c.(418-420)ccG>ccA	p.P140P	RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371836.1_Silent_p.P140P|AGBL4_ENST00000371838.1_Silent_p.P140P	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	140					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TCCTATGGTCCGGGCAGCGGT	0.398																																																	0													93	78	83					1																	49511430		692	1591	2283	SO:0001819	synonymous_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 6"					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.420G>A	1.37:g.49511430C>T			B3KT26|B4DG37	Silent	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.P140	ENST00000371839.1	37	c.420	CCDS44137.1	1																																																																																			AGBL4	-	NULL	ENSG00000186094		0.398	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4		0	43	0	C	NM_032785		49511430	-1			no_errors	ENST00000371839	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.258	T	T	49511430	C	T	49511430	2	4	109	1	0	0	0	0	0	0	0	1	377	639	23	1		1	AGBL4	1	49511430	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	6307189	49511430	199739191	2	29672											
EPS15	2060	genome.wustl.edu	37	chr1	51906102	51906102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaggacttgatcctatgatGttctaaaaacaaaaagttca	17	11	6	7	0	2	2	1	2	1	0	3	3	3	3	1	1	1	2	1	1	6	5			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:51906102G>A	ENST00000371733.3	-	12	1053	c.957C>T	c.(955-957)aaC>aaT	p.N319N	EPS15_ENST00000371730.2_Silent_p.N319N	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	319	Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATCCTATGATGTTCTAAAAAC	0.284			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											75	74	74					1																	51906102		2202	4300	6502	SO:0001819	synonymous_variant	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"EF-hand domain containing"	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.957C>T	1.37:g.51906102G>A			B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.N319	ENST00000371733.3	37	c.957	CCDS557.1	1																																																																																			EPS15	-	NULL	ENSG00000085832		0.284	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1		0	39	0	G	NM_001981		51906102	-1			no_errors	ENST00000371733	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.442	A	A	51906102	G	A	51906102	2	1	109	1	0	0	0	0	0	0	0	1	5208	1368	48	3		3	EPS15	1	51906102	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	2394672	51906102	197344519	3	29673											
GBP6	163351	genome.wustl.edu	37	chr1	89843995	89843995	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgtgacggagctcacaGaactaattaaggcaaagtcc	14	9	10	8	1	1	2	1	1	0	1	2	3	2	3	1	2	2	3	1	2	5	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:89843995G>T	ENST00000370456.4	+	5	541	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	GBP6_ENST00000535065.1_Nonsense_Mutation_p.E20*	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	150	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GGAGCTCACAGAACTAATTAA	0.398																																																	0													111	119	116					1																	89843995		2203	4300	6503	SO:0001587	stop_gained	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.448G>T	1.37:g.89843995G>T	ENSP00000359485:p.Glu150*		A2RRM3|Q6ZN86|Q7Z3F0	Nonsense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.E150*	ENST00000370456.4	37	c.448	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129221	0.56721	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	.	.	.	4.97	2.07	0.26955	.	0.129368	0.49305	D	0.000145	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-9.281	8.6619	0.34097	0.2561:0.0:0.7439:0.0	.	.	.	.	X	121;150;20	.	ENSP00000359485:E150X	E	+	1	0	GBP6	89616583	0.991000	0.36638	0.269000	0.24586	0.058000	0.15608	1.556000	0.36288	0.156000	0.19299	0.585000	0.79938	GAA	GBP6	-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase	ENSG00000183347		0.398	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1		0	27	0	G	NM_198460		89843995	1			no_errors	ENST00000370456	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.990	T	T	89843995	G	T	89843995	4	4	109	1	0	0	0	0	0	1	0	0	6303	943	33	3	462	3	GBP6	1	89843995	Nonsense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	37937893	89843995	159406626	4	29674											
CCDC76	54482	genome.wustl.edu	37	chr1	100613525	100613525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagaacctttagccaaacGcataaagaatgataaaacag	20	7	7	7	1	0	4	0	2	0	2	0	4	0	4	2	0	4	1	2	0	9	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:100613525G>T	ENST00000370141.2	+	10	899	c.893G>T	c.(892-894)cGc>cTc	p.R298L		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	298					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TTAGCCAAACGCATAAAGAAT	0.403																																																	0													68	71	70					1																	100613525		2203	4300	6503	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"coiled-coil domain containing 76"	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.893G>T	1.37:g.100613525G>T	ENSP00000359160:p.Arg298Leu		Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.R298L	ENST00000370141.2	37	c.893	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309552	0.81247	.	.	ENSG00000122435	ENST00000370141	T	0.44482	0.92	5.97	5.97	0.96955	Methyltransferase TRM13 (1);	0.055091	0.64402	D	0.000001	T	0.51109	0.1655	M	0.67953	2.075	0.80722	D	1	D	0.63046	0.992	P	0.62435	0.902	T	0.50092	-0.8868	10	0.51188	T	0.08	-8.7434	13.6104	0.62074	0.0704:0.0:0.9296:0.0	.	298	Q9NUP7	TRM13_HUMAN	L	298	ENSP00000359160:R298L	ENSP00000359160:R298L	R	+	2	0	CCDC76	100386113	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.375000	0.59549	2.836000	0.97738	0.655000	0.94253	CGC	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.403	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1		0	34	0	G	NM_019083		100613525	1			no_errors	ENST00000370141	ensembl	human	known	74_37	missense	13.33	26	4	SNP	0.996	T	T	100613525	G	T	100613525	3	4	109	1	0	0	0	0	1	0	0	0	2857	1087	38	2	931	2	CCDC76	1	100613525	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	10769530	100613525	148637096	5	29675											
AMY1A	276	genome.wustl.edu	37	chr1	104203065	104203066	+	Missense_Mutation	DNP	GC	GC	TT																															tgacaatcaacgaggacatgGcgctggaggagcctctatac																								rs138704923	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:104203065_104203066GC>TT	ENST00000370083.4	+	7	1182_1183	c.962_963GC>TT	c.(961-963)gGC>gTT	p.G321V		NM_001008221.1|NM_004038.3	NP_001008222.1|NP_004029.2	P04745	AMY1_HUMAN	amylase, alpha 1A (salivary)	321					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)						all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		CGAGGACATGGCGCTGGAGGAG	0.406																																					Pancreas(131;743 2392 43382 44986)												0																																										SO:0001583	missense	0				CCDS30782.1	1p21	2012-10-02	2007-05-03		ENSG00000237763	ENSG00000237763	3.2.1.1		474	protein-coding gene	gene with protein product		104700	"amylase, alpha 1A; salivary"	AMY1			Standard	XM_005270755		Approved		uc001duv.3	P04745	OTTHUMG00000011020	Exception_encountered	1.37:g.104203065_104203066delinsTT	ENSP00000359100:p.Gly321Val		A6NJS5|A8K8H6|Q13763|Q5T083	Missense_Mutation|Silent	SNP	pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase	p.G321V|p.G321	ENST00000370083.4	37	c.962|c.963	CCDS30782.1	1																																																																																			AMY1A	-	pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000237763		0.406	AMY1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY1A	HGNC	protein_coding	OTTHUMT00000030304.2	-	0	215|213	0	G|C	NM_001008221		104203065|104203066	1	tier1	-|rs138704923	no_errors	ENST00000370083	ensembl	human	known	74_37	missense|silent	11.44|11.39	178|179	23	SNP	0.971|0.311	T	TT	104203066	GC	TT	104203065	3	4	109	1	0	0	0	0	1	0	0	0	591	1203	42	3	984	3	AMY1A	1	104203065	Missense_Mutation	DNP	GC	TCGA-LN-A49X-01A-31D-A27G-09	3589540	104203065	145047556	6	29676											
SORT1	6272	genome.wustl.edu	37	chr1	109867695	109867695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtttgccagcattgacCttcgtctgtggagaacctga	8	12	12	9	1	1	3	0	2	1	1	2	4	1	3	3	2	3	3	3	2	2	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:109867695C>T	ENST00000256637.6	-	14	1718	c.1660G>A	c.(1660-1662)Ggt>Agt	p.G554S	SORT1_ENST00000538502.1_Missense_Mutation_p.G417S	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	554					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		CAGCATTGACCTTCGTCTGTG	0.468																																																	0													80	76	78					1																	109867695		2203	4300	6503	SO:0001583	missense	0			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1660G>A	1.37:g.109867695C>T	ENSP00000256637:p.Gly554Ser		B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.G554S	ENST00000256637.6	37	c.1660	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.402204	0.96030	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.48522	0.81;0.81	5.73	5.73	0.89815	VPS10 (1);	0.046152	0.85682	D	0.000000	T	0.69459	0.3113	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73811	-0.3865	10	0.87932	D	0	-16.6863	18.6732	0.91519	0.0:1.0:0.0:0.0	.	417;554	B4DWI3;Q99523	.;SORT_HUMAN	S	554;417	ENSP00000256637:G554S;ENSP00000438597:G417S	ENSP00000256637:G554S	G	-	1	0	SORT1	109669218	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.149000	0.77396	2.707000	0.92482	0.561000	0.74099	GGT	SORT1	-	pfam_BNR_rpt,smart_VPS10	ENSG00000134243		0.468	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1		0	39	0	C	NM_002959		109867695	-1			no_errors	ENST00000256637	ensembl	human	known	74_37	missense	9.09	30	3	SNP	1.000	T	T	109867695	C	T	109867695	3	4	109	1	0	0	0	0	1	0	0	0	14980	681	24	3	863	3	SORT1	1	109867695	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	5664630	109867695	139382926	7	29677											
NOTCH2	4853	genome.wustl.edu	37	chr1	120483302	120483302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgatctcatggaggcagaagGatccagtgaaacccacaggg	13	6	13	9	0	1	3	1	2	1	1	3	5	2	5	2	4	1	1	2	4	2	0			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:120483302G>A	ENST00000256646.2	-	19	3278	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1020	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCAGAAGGATCCAGTGAA	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													165	136	146					1																	120483302		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3059C>T	1.37:g.120483302G>A	ENSP00000256646:p.Ser1020Phe		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.S1020F	ENST00000256646.2	37	c.3059	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126138	0.37533	.	.	ENSG00000134250	ENST00000256646	D	0.91843	-2.92	5.6	3.73	0.42828	EGF (1);EGF-like region, conserved site (2);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.942898	0.08653	U	0.913661	D	0.84492	0.5484	L	0.46819	1.47	0.09310	N	1	B;B	0.23891	0.051;0.093	B;B	0.35073	0.195;0.119	T	0.78198	-0.2297	10	0.66056	D	0.02	.	9.072	0.36497	0.1379:0.0:0.7404:0.1217	.	1020;1020	Q6IQ50;Q04721	.;NOTC2_HUMAN	F	1020	ENSP00000256646:S1020F	ENSP00000256646:S1020F	S	-	2	0	NOTCH2	120284825	0.959000	0.32827	0.963000	0.40424	0.533000	0.34776	2.168000	0.42424	0.331000	0.23511	-1.119000	0.02030	TCC	NOTCH2	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000134250		0.512	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	-	0	61	0	G	NM_024408		120483302	-1	tier1	-	no_errors	ENST00000256646	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.004	A	A	120483302	G	A	120483302	3	1	109	1	0	0	0	0	1	0	0	0	10587	1174	41	3	4420	3	NOTCH2	1	120483302	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	10615607	120483302	128767319	8	29678											
HIST2H2BF	440686	genome.wustl.edu	37	chr1	149398805	149398805	+	IGR	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccttgcacactcttacttCgagctggtgtacttggtgac	6	14	9	12	1	1	1	0	1	1	0	3	2	2	1	1	2	4	3	1	2	2	5			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:149398805C>G	ENST00000392948.2	-	0	412				RP5-998N21.10_ENST00000609879.1_RNA|HIST2H2BB_ENST00000609585.1_RNA|RP5-998N21.7_ENST00000444624.1_RNA					histone cluster 2, H3, pseudogene 2											lung(1)|ovary(1)	2						ACTCTTACTTCGAGCTGGTGT	0.582																																																	0													14	10	11					1																	149398805		686	1533	2219	SO:0001628	intergenic_variant	0			AL109948		1q21.1	2012-04-11	2006-10-11		ENSG00000203818	ENSG00000203818		"Histones / Replication-dependent"	32060	pseudogene	pseudogene			"histone 2, H3, pseudogene 2"				Standard	NG_012783		Approved	p06			OTTHUMG00000041033		1.37:g.149398805C>G				RNA	SNP	-	NULL	ENST00000392948.2	37	NULL		1																																																																																			HIST2H2BB	-	-	ENSG00000240929		0.582	HIST2H3PS2-001	PUTATIVE	basic|appris_principal	protein_coding	HIST2H2BB	HGNC	protein_coding	OTTHUMT00000098436.3	-	0	60	0	C	NG_012783		149398805	-1	tier1	-	no_errors	ENST00000609585	ensembl	human	known	74_37	rna	13.51	64	10	SNP	1.000	G	G	149398805	C	G	149398805	1	3	109	0	1	0	0	0	0	0	0	0	7207	871	31	5		5	HIST2H2BF	1	149398805	IGR	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	28915503	149398805	99851816	9	29679											
FLG	2312	genome.wustl.edu	37	chr1	152277667	152277667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttctggaagcagacccaGaccacctctcagagtcttct	9	10	9	13	0	4	3	1	0	4	3	5	4	4	4	3	2	1	2	3	2	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:152277667G>A	ENST00000368799.1	-	3	9730	c.9695C>T	c.(9694-9696)tCt>tTt	p.S3232F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3232	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCAGACCCAGACCACCTCTC	0.592									Ichthyosis																																								0													158	172	167					1																	152277667		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9695C>T	1.37:g.152277667G>A	ENSP00000357789:p.Ser3232Phe		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S3232F	ENST00000368799.1	37	c.9695	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.008004	0.19199	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03801	3.8	3.29	-0.628	0.11537	.	.	.	.	.	T	0.06462	0.0166	M	0.76574	2.34	0.09310	N	1	D	0.61697	0.99	D	0.71656	0.974	T	0.16188	-1.0411	9	0.87932	D	0	.	2.8952	0.05688	0.2441:0.0:0.4614:0.2945	.	3232	P20930	FILA_HUMAN	F	3232;170	ENSP00000357789:S3232F	ENSP00000357786:S170F	S	-	2	0	FLG	150544291	0.007000	0.16637	0.000000	0.03702	0.019000	0.09904	0.147000	0.16202	-0.270000	0.09285	0.449000	0.29647	TCT	FLG	-	NULL	ENSG00000143631		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	135	0	G	NM_002016		152277667	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	14.06	110	18	SNP	0.000	A	A	152277667	G	A	152277667	3	1	109	1	0	0	0	0	1	0	0	0	5944	942	33	3	2494	3	FLG	1	152277667	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	2878862	152277667	96972954	10	29680											
ADAR	103	genome.wustl.edu	37	chr1	154574789	154574789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccacgtggtgaaggaTgctggaaccctctctggagc	7	9	13	12	1	1	1	0	1	1	0	3	4	2	4	3	4	4	1	3	4	2	0			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:154574789T>C	ENST00000368474.4	-	2	528	c.329A>G	c.(328-330)cAt>cGt	p.H110R	ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.H153R	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	110					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGTGAAGGATGCTGGAACCC	0.547																																																	0													65	67	66					1																	154574789		2203	4300	6503	SO:0001583	missense	0			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"interferon-induced protein 4"	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.329A>G	1.37:g.154574789T>C	ENSP00000357459:p.His110Arg		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.H153R	ENST00000368474.4	37	c.458	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	T	0.256	-1.003271	0.02128	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11821	2.74;2.76;2.79	4.0	-8.0	0.01126	.	1.536410	0.03251	N	0.181889	T	0.01592	0.0051	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.32640	-0.9899	10	0.24483	T	0.36	1.1979	1.4482	0.02369	0.2253:0.3152:0.274:0.1854	.	110;110;110	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	R	153;110;105	ENSP00000292205:H153R;ENSP00000357459:H110R;ENSP00000431794:H105R	ENSP00000292205:H153R	H	-	2	0	ADAR	152841413	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.690000	0.01922	-2.434000	0.00554	0.459000	0.35465	CAT	ADAR	-	NULL	ENSG00000160710		0.547	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	-	0	61	0	T	NM_001111		154574789	-1	tier1	-	no_errors	ENST00000292205	ensembl	human	known	74_37	missense	19.61	41	10	SNP	0.000	C	C	154574789	T	C	154574789	3	2	109	1	0	0	0	0	1	0	0	0	281	1464	51	4	3407	4	ADAR	1	154574789	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	2297122	154574789	94675832	11	29681											
C1orf66	51093	genome.wustl.edu	37	chr1	156703182	156703182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccagggccatctctcccGcttcatggctcttggcctgg	4	11	10	16	1	3	0	1	0	2	0	6	0	5	0	4	4	0	2	4	4	0	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:156703182G>T	ENST00000368216.4	+	5	1136	c.506G>T	c.(505-507)cGc>cTc	p.R169L	RRNAD1_ENST00000476229.1_Missense_Mutation_p.R46L|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R169L	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	169						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						CATCTCTCCCGCTTCATGGCT	0.602																																																	0													74	79	77					1																	156703182		2203	4300	6503	SO:0001583	missense	0			BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 66"	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.506G>T	1.37:g.156703182G>T	ENSP00000357199:p.Arg169Leu		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	NULL	p.R169L	ENST00000368216.4	37	c.506	CCDS1154.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.625364|4.625364	0.87560|0.87560	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000522237|ENST00000368218;ENST00000368216;ENST00000519086;ENST00000484742;ENST00000476229	.|T;T;T;T	.|0.42131	.|0.98;0.98;0.98;0.98	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Ribosomal RNA adenine methylase transferase, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67021|0.67021	0.2849|0.2849	M|M	0.91818|0.91818	3.245|3.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.91635	.|0.999;0.99	T|T	0.74797|0.74797	-0.3543|-0.3543	5|10	.|0.62326	.|D	.|0.03	-18.3787|-18.3787	16.4887|16.4887	0.84193|0.84193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|169;169	.|Q4VX71;Q96FB5	.|.;RRNAD_HUMAN	S|L	56|169;169;148;67;46	.|ENSP00000357201:R169L;ENSP00000357199:R169L;ENSP00000429756:R148L;ENSP00000429053:R67L	.|ENSP00000357199:R169L	A|R	+|+	1|2	0|0	RRNAD1|RRNAD1	154969806|154969806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.679000|5.679000	0.68160|0.68160	2.490000|2.490000	0.84030|0.84030	0.561000|0.561000	0.74099|0.74099	GCT|CGC	RRNAD1	-	NULL	ENSG00000143303		0.602	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRNAD1	HGNC	protein_coding	OTTHUMT00000098973.1		0	32	0	G	NM_015997		156703182	1			no_errors	ENST00000368216	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T	T	156703182	G	T	156703182	3	4	109	1	0	0	0	0	1	0	0	0	2063	1087	38	2	524	2	C1orf66	1	156703182	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	2128393	156703182	92547439	12	29682											
QSOX1	5768	genome.wustl.edu	37	chr1	180166101	180166101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtccttcatgggcctgCtggccatgtacacctacttc	5	12	8	16	0	1	0	1	0	0	0	3	0	2	0	5	2	3	2	5	2	2	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:180166101C>T	ENST00000367602.3	+	12	2247	c.2173C>T	c.(2173-2175)Ctg>Ttg	p.L725L	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	725					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATGGGCCTGCTGGCCATGTA	0.642																																																	0													49	63	58					1																	180166101		2174	4290	6464	SO:0001819	synonymous_variant	0			U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"quiescin Q6"	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.2173C>T	1.37:g.180166101C>T			Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.L725	ENST00000367602.3	37	c.2173	CCDS1337.1	1																																																																																			QSOX1	-	NULL	ENSG00000116260		0.642	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX1	HGNC	protein_coding	OTTHUMT00000085289.1	-	0	115	0	C	NM_002826		180166101	1	tier1	-	no_errors	ENST00000367602	ensembl	human	known	74_37	silent	19.44	58	14	SNP	1.000	T	T	180166101	C	T	180166101	2	4	109	1	0	0	0	0	0	0	0	1	12928	796	28	3		3	QSOX1	1	180166101	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	23462919	180166101	69084520	13	29683											
SLC26A9	115019	genome.wustl.edu	37	chr1	205899089	205899089	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtacttgagcaccgaaatCaggatctgcaggccggcggc	10	7	13	11	3	2	1	1	1	1	0	2	3	2	2	2	4	3	3	2	4	2	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:205899089C>G	ENST00000367135.3	-	6	761	c.648G>C	c.(646-648)ctG>ctC	p.L216L	SLC26A9_ENST00000340781.4_Silent_p.L216L|SLC26A9_ENST00000367134.2_Silent_p.L216L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	216					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCACCGAAATCAGGATCTGCA	0.582																																																	0													76	67	70					1																	205899089		2203	4300	6503	SO:0001819	synonymous_variant	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"Solute carriers"	14469	protein-coding gene	gene with protein product	"anion transporter/exchanger-9"	608481	"solute carrier family 26, member 9"			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.648G>C	1.37:g.205899089C>G			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L216	ENST00000367135.3	37	c.648	CCDS30990.1	1																																																																																			SLC26A9	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000174502		0.582	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1		0	56	0	C	NM_052934		205899089	-1			no_errors	ENST00000340781	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.998	G	G	205899089	C	G	205899089	2	3	109	1	0	0	0	0	0	0	0	1	14569	813	29	5		5	SLC26A9	1	205899089	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	25732988	205899089	43351532	14	29684											
COG2	22796	genome.wustl.edu	37	chr1	230822767	230822767	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaaccttccatcacccaAggaaacactgaagaccaagg	18	4	7	12	0	1	3	1	1	0	2	2	4	2	4	4	2	2	0	4	2	6	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:230822767A>G	ENST00000366669.4	+	13	1582	c.1467A>G	c.(1465-1467)caA>caG	p.Q489Q	COG2_ENST00000535166.1_Silent_p.Q373Q|COG2_ENST00000534989.1_Silent_p.Q430Q|COG2_ENST00000546013.1_Silent_p.Q178Q|COG2_ENST00000366668.3_Silent_p.Q489Q	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	489					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCATCACCCAAGGAAACACTG	0.468																																																	0													93	77	83					1																	230822767		2203	4300	6503	SO:0001819	synonymous_variant	0			Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"Components of oligomeric golgi complex"	6546	protein-coding gene	gene with protein product		606974	"low density lipoprotein receptor defect C complementing"	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1467A>G	1.37:g.230822767A>G			Q86U99	Silent	SNP	pfam_COG_complex_COG2_C,pfam_COG_su2_N	p.Q489	ENST00000366669.4	37	c.1467	CCDS1584.1	1																																																																																			COG2	-	NULL	ENSG00000135775		0.468	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COG2	HGNC	protein_coding	OTTHUMT00000092087.1	-	0	38	0	A	NM_007357		230822767	1	tier1	-	no_errors	ENST00000366669	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.190	G	G	230822767	A	G	230822767	2	3	109	1	0	0	0	0	0	0	0	1	3665	69	3	4		4	COG2	1	230822767	Silent	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	24923678	230822767	18427854	15	29685											
SDCCAG8	10806	genome.wustl.edu	37	chr1	243434327	243434327	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagcagataaggaaagtGaagtatctccgtcaagaaga	19	6	10	6	1	2	4	1	1	1	3	3	5	2	5	1	1	2	2	1	1	8	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:243434327G>T	ENST00000366541.3	+	3	386	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Nonsense_Mutation_p.E90*|SDCCAG8_ENST00000391846.1_Nonsense_Mutation_p.E90*	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	90					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAGGAAAGTGAAGTATCTCC	0.363																																																	0													135	123	127					1																	243434327		2203	4300	6503	SO:0001587	stop_gained	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.268G>T	1.37:g.243434327G>T	ENSP00000355499:p.Glu90*		O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Nonsense_Mutation	SNP	NULL	p.E90*	ENST00000366541.3	37	c.268	CCDS31075.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.518972	0.97633	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541	.	.	.	5.52	4.6	0.57074	.	0.234154	0.44285	D	0.000472	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-10.4153	11.6452	0.51257	0.0834:0.0:0.9166:0.0	.	.	.	.	X	90	.	ENSP00000348137:E90X	E	+	1	0	SDCCAG8	241500950	1.000000	0.71417	0.648000	0.29521	0.967000	0.64934	3.027000	0.49697	1.468000	0.48064	0.655000	0.94253	GAA	SDCCAG8	-	NULL	ENSG00000054282		0.363	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	-	0	31	0	G	NM_006642		243434327	1	tier1	-	no_errors	ENST00000366541	ensembl	human	known	74_37	nonsense	12.12	29	4	SNP	0.968	T	T	243434327	G	T	243434327	4	4	109	1	0	0	0	0	0	1	0	0	14004	1291	45	3	278	3	SDCCAG8	1	243434327	Nonsense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	12611560	243434327	5816294	16	29686											
OR2M2	391194	genome.wustl.edu	37	chr1	248343797	248343797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttccttctccttttgtggGtctcgggaaatagcccactt	5	17	8	11	1	2	0	0	0	2	0	5	1	3	1	3	2	1	0	3	2	2	7			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:248343797G>T	ENST00000359682.2	+	1	510	c.510G>T	c.(508-510)ggG>ggT	p.G170G		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G170V(1)|p.G170G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTTTGTGGGTCTCGGGAAA	0.423																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)											226	223	224					1																	248343797		2203	4300	6503	SO:0001819	synonymous_variant	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.510G>T	1.37:g.248343797G>T			A3KFT4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G170	ENST00000359682.2	37	c.510	CCDS31106.1	1																																																																																			OR2M2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198601		0.423	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	HGNC	protein_coding	OTTHUMT00000097356.2	-	0	145	0	G	NM_001004688		248343797	1	tier1	-	no_errors	ENST00000359682	ensembl	human	known	74_37	silent	7.03	119	9	SNP	0.000	T	T	248343797	G	T	248343797	2	4	109	1	0	0	0	0	0	0	0	1	11049	1248	44	3		3	OR2M2	1	248343797	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	4909470	248343797	906824	17	29687											
OR2T6	254879	genome.wustl.edu	37	chr1	248551359	248551359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctggccagctcttggttCggtggggctttggacagttt	4	14	14	9	1	1	0	0	0	1	0	3	1	2	1	2	6	1	4	2	6	0	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:248551359C>T	ENST00000355728.2	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F150F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTTGGTTCGGTGGGGCTT	0.557																																																	1	Substitution - coding silent(1)	prostate(1)											82	78	79					1																	248551359		2203	4300	6503	SO:0001819	synonymous_variant	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"GPCR / Class A : Olfactory receptors"	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.450C>T	1.37:g.248551359C>T			A6NE36	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.F150	ENST00000355728.2	37	c.450	CCDS31114.1	1																																																																																			OR2T6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000198104		0.557	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1		0	53	0	C	NM_001005471		248551359	1			no_errors	ENST00000355728	ensembl	human	known	74_37	silent	6.06	31	2	SNP	0.001	T	T	248551359	C	T	248551359	2	4	109	1	0	0	0	0	0	0	0	1	11068	883	31	1		1	OR2T6	1	248551359	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	207562	248551359	699262	18	29688											
OR2T34	127068	genome.wustl.edu	37	chr1	248737167	248737167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgacatctttgttgcGgagactgtaaatgagggggt	8	12	15	6	1	1	3	0	2	1	1	1	4	1	3	1	4	1	2	1	4	2	3	rs148590921	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr1:248737167G>A	ENST00000328782.2	-	1	913	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTTGTTGCGGAGACTGTAA	0.483																																																	0													13	13	13					1																	248737167		1841	3755	5596	SO:0001583	missense	0			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"GPCR / Class A : Olfactory receptors"	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.892C>T	1.37:g.248737167G>A	ENSP00000330904:p.Arg298Cys		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R298C	ENST00000328782.2	37	c.892	CCDS31120.1	1	418	0.19139194139194138	111	0.22560975609756098	65	0.17955801104972377	145	0.2534965034965035	97	0.1279683377308707	.	8.250	0.808823	0.16467	.	.	ENSG00000183310	ENST00000328782	T	0.40476	1.03	2.37	-4.74	0.03249	.	.	.	.	.	T	0.00012	0.0000	M	0.77820	2.39	0.80722	P	0.0	D	0.89917	1.0	D	0.74348	0.983	T	0.06588	-1.0818	8	0.72032	D	0.01	.	5.5241	0.16949	0.1475:0.0:0.2286:0.624	.	298	Q8NGX1	O2T34_HUMAN	C	298	ENSP00000330904:R298C	ENSP00000330904:R298C	R	-	1	0	OR2T34	246803790	0.000000	0.05858	0.003000	0.11579	0.341000	0.28922	-0.784000	0.04633	-1.176000	0.02747	0.123000	0.15791	CGC	OR2T34	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000183310		0.483	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	-	0	15	0	G	NM_001001821		248737167	-1	tier1	rs148590921	no_errors	ENST00000328782	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	A	A	248737167	G	A	248737167	3	1	109	1	0	0	0	0	1	0	0	0	11064	1116	39	1	68	1	OR2T34	1	248737167	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	185808	248737167	513454	19	29689											
ASAP2	8853	genome.wustl.edu	37	chr2	9517087	9517087	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagatccgtggatcgaacCtctcttcacattgtagactt	9	13	8	11	2	3	2	2	0	1	2	6	4	4	3	2	1	1	1	2	1	2	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:9517087C>T	ENST00000281419.3	+	18	2137	c.1797C>T	c.(1795-1797)acC>acT	p.T599T	ASAP2_ENST00000315273.4_Silent_p.T599T	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	599					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGGATCGAACCTCTCTTCACA	0.453																																																	0													132	140	137					2																	9517087		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"ADP-ribosylation factor GTPase activating proteins", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	2721	protein-coding gene	gene with protein product	"centaurin, beta 3"	603817	"development and differentiation enhancing factor 2"	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.1797C>T	2.37:g.9517087C>T			D6W4Y8	Silent	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.T599	ENST00000281419.3	37	c.1797	CCDS1661.1	2																																																																																			ASAP2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151693		0.453	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	0	49	0	C	NM_003887		9517087	1	tier1	-	no_errors	ENST00000281419	ensembl	human	known	74_37	silent	33.33	30	15	SNP	0.298	T	T	9517087	C	T	9517087	2	4	109	1	0	0	0	0	0	0	0	1	1012	668	24	3		3	ASAP2	2	9517087	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		9517087	233682286	20	29690											
NOL10	79954	genome.wustl.edu	37	chr2	10815986	10815986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcataacatcgaacccgagGtttatatgttcctacaaaaa	15	11	6	9	2	1	0	1	0	0	0	3	2	2	0	2	1	3	2	2	1	7	6			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:10815986G>T	ENST00000381685.5	-	4	328	c.223C>A	c.(223-225)Cct>Act	p.P75T	NOL10_ENST00000542668.1_Missense_Mutation_p.P25T|NOL10_ENST00000538384.1_Intron|NOL10_ENST00000345985.3_Missense_Mutation_p.P75T	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	75						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CGAACCCGAGGTTTATATGTT	0.313																																																	0													54	52	53					2																	10815986		2202	4299	6501	SO:0001583	missense	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"polyglutamine binding protein 5"	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.223C>A	2.37:g.10815986G>T	ENSP00000371101:p.Pro75Thr		A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.P75T	ENST00000381685.5	37	c.223	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803249	0.90623	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668	T;T;T	0.65732	2.31;2.81;-0.17	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	H	0.95611	3.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89655	0.3872	10	0.87932	D	0	-16.7023	20.0124	0.97464	0.0:0.0:1.0:0.0	.	75;75	Q9BSC4;Q9BSC4-2	NOL10_HUMAN;.	T	75;75;25	ENSP00000263837:P75T;ENSP00000371101:P75T;ENSP00000437625:P25T	ENSP00000263837:P75T	P	-	1	0	NOL10	10733437	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.387000	0.97232	2.749000	0.94314	0.655000	0.94253	CCT	NOL10	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000115761		0.313	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	-	0	25	0	G	NM_024894		10815986	-1	tier1	-	no_errors	ENST00000381685	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T	T	10815986	G	T	10815986	3	4	109	1	0	0	0	0	1	0	0	0	10559	1261	44	3	1915	3	NOL10	2	10815986	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	1298899	10815986	232383387	21	29691											
MSH6	2956	genome.wustl.edu	37	chr2	48030583	48030583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttactgtgcctggctaactAtagtcgagggggtgatggtc	7	13	14	7	1	0	1	0	1	0	0	2	2	0	1	1	4	3	1	1	4	4	5	rs267608085|rs587781870|rs372103816		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:48030583A>G	ENST00000234420.5	+	5	3349	c.3197A>G	c.(3196-3198)tAt>tGt	p.Y1066C	MSH6_ENST00000540021.1_Missense_Mutation_p.Y936C|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.Y764C	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1066					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGCTAACTATAGTCGAGGG	0.458			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)						A	CYS/TYR	0,4406		0,0,2203	95	86	89		3197	5.4	0.9	2		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	MSH6	NM_000179.2	194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1066/1361	48030583	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3197A>G	2.37:g.48030583A>G	ENSP00000234420:p.Tyr1066Cys		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.Y1066C	ENST00000234420.5	37	c.3197	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340935	0.81911	0.0	1.16E-4	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	D;D;D	0.86865	-2.18;-2.18;-2.18	5.42	5.42	0.78866	DNA mismatch repair protein MutS, core (2);	0.055385	0.85682	D	0.000000	D	0.90689	0.7079	L	0.48174	1.505	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68353	0.947;0.957	D	0.90965	0.4815	10	0.51188	T	0.08	-7.2672	15.4547	0.75302	1.0:0.0:0.0:0.0	.	936;1066	B4DF41;P52701	.;MSH6_HUMAN	C	1066;34;936;764	ENSP00000234420:Y1066C;ENSP00000446475:Y936C;ENSP00000438580:Y764C	ENSP00000234420:Y1066C	Y	+	2	0	MSH6	47884087	1.000000	0.71417	0.905000	0.35620	0.906000	0.53458	9.307000	0.96226	2.067000	0.61834	0.397000	0.26171	TAT	MSH6	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.458	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0	44	0	A	NM_000179		48030583	1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	G	G	48030583	A	G	48030583	3	3	109	1	0	0	0	0	1	0	0	0	9912	449	16	4	3215	4	MSH6	2	48030583	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	37214597	48030583	195168790	22	29692											
RAB1A	5861	genome.wustl.edu	37	chr2	65331879	65331879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttactgcaaacctaaGaagaaggcaagactttccaa	17	8	6	10	0	1	3	1	0	0	3	2	3	2	3	2	1	4	2	2	1	8	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:65331879G>T	ENST00000409784.3	-	2	275	c.85C>A	c.(85-87)Ctt>Att	p.L29I	RAB1A_ENST00000260638.8_Missense_Mutation_p.L29I|RAB1A_ENST00000494188.1_5'UTR|RAB1A_ENST00000398529.3_Missense_Mutation_p.L29I|RAB1A_ENST00000356214.7_Missense_Mutation_p.L29I|RAB1A_ENST00000409892.1_Missense_Mutation_p.L29I|RAB1A_ENST00000409751.1_Missense_Mutation_p.L29I	NM_004161.4	NP_004152.1	P62820	RAB1A_HUMAN	RAB1A, member RAS oncogene family	29					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|cargo loading into COPII-coated vesicle (GO:0090110)|cell migration (GO:0016477)|defense response to bacterium (GO:0042742)|endocytosis (GO:0006897)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|growth hormone secretion (GO:0030252)|GTP catabolic process (GO:0006184)|interleukin-8 secretion (GO:0072606)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|positive regulation of glycoprotein metabolic process (GO:1903020)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle transport along microtubule (GO:0047496)|vesicle-mediated transport (GO:0016192)|virion assembly (GO:0019068)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|melanosome (GO:0042470)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|lung(3)|prostate(1)	6						GCAAACCTAAGAAGAAGGCAA	0.299																																																	0													36	34	35					2																	65331879		1855	4104	5959	SO:0001583	missense	0			M28209	CCDS46305.1, CCDS46306.1	2p14	2008-02-05		2002-03-17	ENSG00000138069	ENSG00000138069		"RAB, member RAS oncogene"	9758	protein-coding gene	gene with protein product	"Rab GTPase YPT1 homolog (yeast)"	179508		RAB1		2501306	Standard	NM_004161		Approved	YPT1	uc002sdm.3	P62820	OTTHUMG00000152725	ENST00000409784.3:c.85C>A	2.37:g.65331879G>T	ENSP00000387286:p.Leu29Ile		P11476|Q6FIE7|Q96N61|Q9Y3T2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L29I	ENST00000409784.3	37	c.85	CCDS46306.1	2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976149	0.92982	.	.	ENSG00000138069	ENST00000409784;ENST00000409892;ENST00000409751;ENST00000398529;ENST00000260638;ENST00000356214	T;T;T;T;T;T	0.80304	-1.32;-1.32;-1.32;-1.36;-1.32;-1.32	5.81	5.81	0.92471	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85548	0.5722	L	0.28740	0.885	0.58432	D	0.999997	D;D;D;B	0.89917	1.0;0.993;0.969;0.106	D;D;P;B	0.97110	1.0;0.91;0.868;0.326	D	0.86525	0.1818	10	0.72032	D	0.01	.	19.6699	0.95907	0.0:0.0:1.0:0.0	.	29;29;29;29	B7Z8M7;P62820-2;P62820-3;P62820	.;.;.;RAB1A_HUMAN	I	29	ENSP00000387286:L29I;ENSP00000386451:L29I;ENSP00000386672:L29I;ENSP00000381540:L29I;ENSP00000260638:L29I;ENSP00000348546:L29I	ENSP00000260638:L29I	L	-	1	0	RAB1A	65185383	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.000000	0.93564	2.759000	0.94783	0.591000	0.81541	CTT	RAB1A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000138069		0.299	RAB1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB1A	HGNC	protein_coding	OTTHUMT00000327572.1		0	41	0	G	NM_004161		65331879	-1			no_errors	ENST00000409784	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T	T	65331879	G	T	65331879	3	4	109	1	0	0	0	0	1	0	0	0	12950	942	33	3	552	3	RAB1A	2	65331879	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	17301296	65331879	177867494	23	29693											
EGR4	1961	genome.wustl.edu	37	chr2	73519305	73519305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccggcagttccgcagggcaGctgatggacagcaagtcctc	8	6	14	13	2	0	1	0	1	0	0	3	2	2	2	3	3	2	6	3	3	1	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:73519305G>T	ENST00000545030.1	-	2	1124	c.1050C>A	c.(1048-1050)agC>agA	p.S350R	EGR4_ENST00000436467.2_Missense_Mutation_p.S247R	NM_001965.3	NP_001956.3	Q05215	EGR4_HUMAN	early growth response 4	350	Pro-rich.				cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCGCAGGGCAGCTGATGGACA	0.652																																																	0													15	18	17					2																	73519305		2174	4281	6455	SO:0001583	missense	0				CCDS1925.2	2p13	2013-01-08			ENSG00000135625	ENSG00000135625		"Zinc fingers, C2H2-type"	3241	protein-coding gene	gene with protein product		128992				1584812	Standard	NM_001965		Approved	NGFI-C, PAT133	uc010yrj.2	Q05215	OTTHUMG00000129774	ENST00000545030.1:c.1050C>A	2.37:g.73519305G>T	ENSP00000445626:p.Ser350Arg		B2RAE3|G3V1T5|Q2Z1P5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S350R	ENST00000545030.1	37	c.1050	CCDS1925.2	2	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344724	0.61073	.	.	ENSG00000135625	ENST00000545030;ENST00000436467	T;T	0.17528	2.27;2.66	4.58	3.7	0.42460	.	0.142617	0.49305	D	0.000149	T	0.14313	0.0346	L	0.27053	0.805	0.40566	D	0.981256	B;B	0.30914	0.199;0.3	B;B	0.35182	0.097;0.197	T	0.09509	-1.0671	10	0.72032	D	0.01	-11.0754	11.362	0.49648	0.0893:0.0:0.9107:0.0	.	247;350	Q05215;G3V1T5	EGR4_HUMAN;.	R	350;247	ENSP00000445626:S350R;ENSP00000419687:S247R	ENSP00000419687:S247R	S	-	3	2	EGR4	73372813	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.066000	0.41452	1.152000	0.42452	0.561000	0.74099	AGC	EGR4	-	NULL	ENSG00000135625		0.652	EGR4-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGR4	HGNC	protein_coding			0	83	0	G	NM_001965		73519305	-1			no_errors	ENST00000545030	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T	T	73519305	G	T	73519305	3	4	109	1	0	0	0	0	1	0	0	0	4988	962	34	3	723	3	EGR4	2	73519305	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	8187426	73519305	169680068	24	29694											
TMEM131	23505	genome.wustl.edu	37	chr2	98409874	98409874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactttccttcagatgaaaTaccaacgattctcctgagat	13	13	5	10	1	2	3	1	2	1	2	4	5	3	3	3	0	3	0	3	0	4	5			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:98409874T>C	ENST00000186436.5	-	30	3757	c.3529A>G	c.(3529-3531)Att>Gtt	p.I1177V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1177						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAGATGAAATACCAACGATT	0.408																																																	0													86	86	86					2																	98409874		1865	4092	5957	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3529A>G	2.37:g.98409874T>C	ENSP00000186436:p.Ile1177Val			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.I1177V	ENST00000186436.5	37	c.3529	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.200823	0.79015	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.32988	1.43	6.07	4.92	0.64577	.	0.046751	0.85682	N	0.000000	T	0.30417	0.0764	M	0.61703	1.905	0.80722	D	1	B	0.14012	0.009	B	0.17433	0.018	T	0.06972	-1.0797	10	0.18710	T	0.47	-12.9431	11.9689	0.53051	0.0:0.0681:0.0:0.9319	.	1177	Q92545	TM131_HUMAN	V	1177;94	ENSP00000186436:I1177V	ENSP00000186436:I1177V	I	-	1	0	TMEM131	97776306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.485000	0.66850	1.114000	0.41781	0.533000	0.62120	ATT	TMEM131	-	NULL	ENSG00000075568		0.408	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	-	0	89	0	T	XM_371542		98409874	-1	tier1	-	no_errors	ENST00000186436	ensembl	human	known	74_37	missense	9.01	101	10	SNP	1.000	C	C	98409874	T	C	98409874	3	2	109	1	0	0	0	0	1	0	0	0	16091	1406	49	4	2170	4	TMEM131	2	98409874	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	24890569	98409874	144789499	25	29695											
MARCH7	64844	genome.wustl.edu	37	chr2	160599647	160599647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagataactcagggagcaCgctcaagatcgcagaaccag	14	5	11	11	2	2	3	2	1	0	3	3	5	2	4	1	1	3	3	1	1	3	1	rs139916486		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:160599647C>T	ENST00000259050.4	+	3	351	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	MARCH7_ENST00000539065.1_Missense_Mutation_p.R77C|MARCH7_ENST00000409591.1_Missense_Mutation_p.R39C|MARCH7_ENST00000409175.1_Missense_Mutation_p.R77C|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	77	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R77C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TCAGGGAGCACGCTCAAGATC	0.413																																																	1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,4406		0,0,2203	125	121	122		229	3.7	1	2	dbSNP_134	122	1,8599	1.2+/-3.3	0,1,4299	no	missense	MARCH7	NM_022826.2	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	77/705	160599647	1,13005	2203	4300	6503	SO:0001583	missense	0			AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"MARCH membrane-associated ring fingers", "RING-type (C3HC4) zinc fingers"	17393	protein-coding gene	gene with protein product		613334	"axotrophin", "membrane-associated ring finger (C3HC4) 7"	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.229C>T	2.37:g.160599647C>T	ENSP00000259050:p.Arg77Cys		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.R77C	ENST00000259050.4	37	c.229	CCDS2210.1	2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961234	0.34565	0.0	1.16E-4	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000421037;ENST00000409591	T;T;T;T;T	0.45668	2.61;2.69;2.61;0.89;2.6	5.54	3.72	0.42706	.	0.603491	0.19244	N	0.119081	T	0.23611	0.0571	N	0.16478	0.41	0.41849	D	0.990169	B;B;B	0.15719	0.007;0.014;0.014	B;B;B	0.08055	0.003;0.002;0.001	T	0.09862	-1.0655	10	0.40728	T	0.16	-1.1016	6.2791	0.20997	0.0:0.7617:0.0:0.2383	.	77;39;77	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	C	77;77;77;77;39	ENSP00000386830:R77C;ENSP00000442992:R77C;ENSP00000259050:R77C;ENSP00000392862:R77C;ENSP00000387238:R39C	ENSP00000259050:R77C	R	+	1	0	MARCH7	160307893	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.150000	0.50662	2.607000	0.88179	0.650000	0.86243	CGC	MARCH7	-	NULL	ENSG00000136536		0.413	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH7	HGNC	protein_coding	OTTHUMT00000255040.3		0	27	0	C	NM_022826		160599647	1			no_errors	ENST00000259050	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	160599647	C	T	160599647	3	4	109	1	0	0	0	0	1	0	0	0	9344	536	19	1	235	1	MARCH7	2	160599647	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	62189773	160599647	82599726	26	29696											
SCN9A	6335	genome.wustl.edu	37	chr2	167056175	167056175	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacattccaaagatggcGtagatgaacatgaccaggaa	15	8	11	7	1	0	4	0	2	0	2	1	6	1	6	2	3	1	1	2	3	4	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:167056175G>A	ENST00000409435.1	-	26	4973	c.4974C>T	c.(4972-4974)taC>taT	p.Y1658Y	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.Y1659Y|SCN9A_ENST00000375387.4_Silent_p.Y1659Y|SCN9A_ENST00000409672.1_Silent_p.Y1647Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1658					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.Y1647Y(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGATGGCGTAGATGAACA	0.443																																																	1	Substitution - coding silent(1)	large_intestine(1)											167	165	166					2																	167056175		2203	4300	6503	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10597	protein-coding gene	gene with protein product		603415	"sodium channel, voltage-gated, type IX, alpha polypeptide"			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4974C>T	2.37:g.167056175G>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.Y1659	ENST00000409435.1	37	c.4977	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000169432		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0	147	0	G	NM_002977		167056175	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	silent	10.48	111	13	SNP	0.961	A	A	167056175	G	A	167056175	2	1	109	1	0	0	0	0	0	0	0	1	13970	1140	40	1		1	SCN9A	2	167056175	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	6456528	167056175	76143198	27	29697											
TTN	7273	genome.wustl.edu	37	chr2	179441478	179441478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatttcgctgccaccatcatCcactggccttttccagctga	8	12	6	15	1	1	1	1	1	0	0	4	1	3	1	5	1	2	2	5	1	1	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:179441478C>G	ENST00000591111.1	-	275	64794	c.64570G>C	c.(64570-64572)Gat>Cat	p.D21524H	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D14225H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20597H|TTN_ENST00000342175.6_Missense_Mutation_p.D14292H|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D14100H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D23165H|TTN-AS1_ENST00000438095.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21524	Fibronectin type-III 56. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCATCATCCACTGGCCTT	0.458																																																	0													121	118	119					2																	179441478		1928	4159	6087	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64570G>C	2.37:g.179441478C>G	ENSP00000465570:p.Asp21524His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D20597H	ENST00000591111.1	37	c.61789		2	.	.	.	.	.	.	.	.	.	.	C	8.568	0.879322	0.17467	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.63	5.63	0.86233	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63686	0.2532	L	0.41824	1.3	0.51767	D	0.999933	D;D;D;D	0.60575	0.988;0.988;0.988;0.988	P;P;P;P	0.59288	0.855;0.855;0.855;0.855	T	0.64905	-0.6297	9	0.87932	D	0	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	14100;14225;14292;21524	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	20597;14100;14292;14225;14098	ENSP00000343764:D20597H;ENSP00000434586:D14100H;ENSP00000340554:D14292H;ENSP00000352154:D14225H	ENSP00000340554:D14292H	D	-	1	0	TTN	179149724	0.981000	0.34729	0.968000	0.41197	0.586000	0.36452	2.476000	0.45171	2.814000	0.96858	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0	45	0	C	NM_133378		179441478	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.975	G	G	179441478	C	G	179441478	3	3	109	1	0	0	0	0	1	0	0	0	16784	855	30	5	38638	5	TTN	2	179441478	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	12385303	179441478	63757895	28	29698											
TTN	7273	genome.wustl.edu	37	chr2	179611634	179611634	+	Intron	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgggtgtaccaaatgaatCggaacgccatatttcataag	14	11	9	7	2	1	1	1	1	0	0	2	2	1	2	2	2	2	1	2	2	6	5			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:179611634C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D5165N|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAATGAATCGGAACGCCAT	0.398																																																	0													119	116	117					2																	179611634		2203	4299	6502	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4986G>A	2.37:g.179611634C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D5165N	ENST00000591111.1	37	c.15493		2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380198	0.42207	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.95	5.95	0.96441	.	.	.	.	.	T	0.41236	0.1150	N	0.24115	0.695	0.80722	D	1	P	0.47106	0.89	B	0.39503	0.301	T	0.42999	-0.9418	9	0.02654	T	1	.	18.5659	0.91116	0.0:1.0:0.0:0.0	.	5165	Q8WZ42-6	.	N	5165;446	ENSP00000354117:D5165N	ENSP00000304714:D446N	D	-	1	0	TTN	179319879	0.789000	0.28775	0.968000	0.41197	0.553000	0.35397	1.677000	0.37576	2.825000	0.97269	0.655000	0.94253	GAT	TTN	-	NULL	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	85	0	C	NM_133378		179611634	-1	tier1	-	no_errors	ENST00000360870	ensembl	human	known	74_37	missense	17.11	63	13	SNP	0.959	T	T	179611634	C	T	179611634	1	4	109	0	1	0	0	0	0	0	0	0	16784	884	31	1		1	TTN	2	179611634	Intron	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	170156	179611634	63587739	29	29699											
ACADL	33	genome.wustl.edu	37	chr2	211053715	211053715	+	Frame_Shift_Del	DEL	C	C	-																															aagacaatctctcttgcaatCagctccttcattatttcatt																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:211053715delC	ENST00000233710.3	-	11	1490	c.1263delG	c.(1261-1263)ctgfs	p.L421fs	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	421					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CTCTTGCAATCAGCTCCTTCA	0.363																																																	0													155	155	155					2																	211053715		2203	4300	6503	SO:0001589	frameshift_variant	0			M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"acyl-Coenzyme A dehydrogenase, long chain"			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.1263delG	2.37:g.211053715delC	ENSP00000233710:p.Leu421fs		B2R8T3|Q8IUN8	Frame_Shift_Del	DEL	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.I422fs	ENST00000233710.3	37	c.1263	CCDS2389.1	2																																																																																			ACADL	-	pfam_AcylCo_DH/oxidase_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000115361		0.363	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADL	HGNC	protein_coding	OTTHUMT00000256561.2		0	48	0	C	NM_001608		211053715	-1	tier1		no_errors	ENST00000233710	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-	-	211053715	C	-	211053715	7	5	109	1	0	1	0	1	0	0	0	0	112	813	29	0	33	0	ACADL	2	211053715	Frame_Shift_Del	DEL	C	TCGA-LN-A49X-01A-31D-A27G-09	31442081	211053715	32145658	30	29700											
ALPP	250	genome.wustl.edu	37	chr2	233245015	233245015	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaatctggtgcaggaatgGctggcgaagcgccaggtgat	11	7	16	7	2	1	2	0	1	1	1	1	4	1	3	1	5	2	2	1	5	4	0			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:233245015G>A	ENST00000392027.2	+	6	1046	c.777G>A	c.(775-777)tgG>tgA	p.W259*	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	259					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCAGGAATGGCTGGCGAAGC	0.642																																																	0													85	86	86					2																	233245015		2203	4300	6503	SO:0001587	stop_gained	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"Regan isozyme"	171800	"alkaline phosphatase, placental (Regan isozyme)"			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.777G>A	2.37:g.233245015G>A	ENSP00000375881:p.Trp259*		P05188|P06861|Q53S78|Q96DB7	Nonsense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.W259*	ENST00000392027.2	37	c.777	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	.	34	5.303256	0.95601	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.31	2.31	0.28768	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9891	0.58608	0.0:0.0:1.0:0.0	.	.	.	.	X	259	.	ENSP00000375881:W259X	W	+	3	0	ALPP	232953259	1.000000	0.71417	0.990000	0.47175	0.365000	0.29674	5.609000	0.67661	1.289000	0.44618	0.298000	0.19748	TGG	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.642	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	-	0	148	0	G	NM_001632		233245015	1	tier1	-	no_errors	ENST00000392027	ensembl	human	known	74_37	nonsense	10.00	90	10	SNP	1.000	A	A	233245015	G	A	233245015	4	1	109	1	0	0	0	0	0	1	0	0	548	1212	42	3	799	3	ALPP	2	233245015	Nonsense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	22191300	233245015	9954358	31	29701											
SNED1	25992	genome.wustl.edu	37	chr2	241969711	241969711	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctcccaggtgaacaacaAcgggatcatctccttcctga	10	9	8	14	1	2	2	1	2	1	0	5	3	4	3	4	2	4	0	4	2	3	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:241969711A>T	ENST00000310397.8	+	2	224	c.224A>T	c.(223-225)aAc>aTc	p.N75I	SNED1_ENST00000342631.6_Missense_Mutation_p.N75I|SNED1_ENST00000401884.1_Missense_Mutation_p.N75I|SNED1_ENST00000405547.3_Missense_Mutation_p.N75I|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	75					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGAACAACAACGGGATCATC	0.642																																																	0													28	31	30					2																	241969711		1999	4155	6154	SO:0001583	missense	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.224A>T	2.37:g.241969711A>T	ENSP00000308893:p.Asn75Ile		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.N75I	ENST00000310397.8	37	c.224	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.464883	0.84425	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.16	5.16	0.70880	.	.	.	.	.	D	0.92685	0.7675	M	0.91038	3.17	0.48975	D	0.99973	D	0.89917	1.0	D	0.91635	0.999	D	0.94293	0.7530	9	0.87932	D	0	.	14.9987	0.71455	1.0:0.0:0.0:0.0	.	75	Q8TER0	SNED1_HUMAN	I	75	ENSP00000384871:N75I;ENSP00000386007:N75I;ENSP00000308893:N75I;ENSP00000342992:N75I	ENSP00000308893:N75I	N	+	2	0	SNED1	241618384	1.000000	0.71417	0.630000	0.29268	0.946000	0.59487	8.951000	0.93025	1.947000	0.56498	0.533000	0.62120	AAC	SNED1	-	NULL	ENSG00000162804		0.642	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	-	0	98	0	A	XM_059482		241969711	1	tier1	-	no_errors	ENST00000310397	ensembl	human	known	74_37	missense	12.79	75	11	SNP	1.000	T	T	241969711	A	T	241969711	3	4	109	1	0	0	0	0	1	0	0	0	14890	43	2	5	230	5	SNED1	2	241969711	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	8724696	241969711	1229662	32	29702											
THAP4	51078	genome.wustl.edu	37	chr2	242573291	242573292	+	Frame_Shift_Ins	INS	-	-	C																															ggtgcggccatggcctccagINScccccctcttcttctcggtc																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr2:242573291_242573292insC	ENST00000407315.1	-	2	711_712	c.280_281insG	c.(280-282)gctfs	p.A94fs		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	94							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGCCTCCAGCCCCCCTCTTC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"THAP (C2CH-type zinc finger) domain containing"	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.281dupG	2.37:g.242573297_242573297dupC	ENSP00000385006:p.Ala94fs		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Frame_Shift_Ins	INS	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A94fs	ENST00000407315.1	37	c.281_280	CCDS2551.1	2																																																																																			THAP4	-	NULL	ENSG00000176946		0.639	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3		0	65	0	-	NM_015963		242573292	-1	tier1		no_errors	ENST00000407315	ensembl	human	known	74_37	frame_shift_ins	21.31	48	13	INS	0.000:0.000	C	C	242573292	-	C	242573291	7	5	109	1	0	1	1	0	0	0	0	0	15893	971	34	0	1480	0	THAP4	2	242573291	Frame_Shift_Ins	INS	-	TCGA-LN-A49X-01A-31D-A27G-09	603580	242573291	626082	33	29703											
OSBPL10	114884	genome.wustl.edu	37	chr3	31774849	31774849	+	Frame_Shift_Del	DEL	T	T	-																															gcaaagagccaagtgtcccaTttttcagctgctctgtggaa																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:31774849delT	ENST00000396556.2	-	6	1117	c.995delA	c.(994-996)aatfs	p.N332fs	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.N268fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	332					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTGTCCCATTTTTCAGCTG	0.458																																																	0													168	158	161					3																	31774849		2203	4300	6503	SO:0001589	frameshift_variant	0			AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.995delA	3.37:g.31774849delT	ENSP00000379804:p.Asn332fs		B4E212|Q9BTU5	Frame_Shift_Del	DEL	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N332fs	ENST00000396556.2	37	c.995	CCDS2651.1	3																																																																																			OSBPL10	-	NULL	ENSG00000144645		0.458	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL10	HGNC	protein_coding	OTTHUMT00000253165.2		0	73	0	T			31774849	-1	tier1		no_errors	ENST00000396556	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	1.000	-	-	31774849	T	-	31774849	7	5	109	1	0	1	0	1	0	0	0	0	11314	1493	52	0	1327	0	OSBPL10	3	31774849	Frame_Shift_Del	DEL	T	TCGA-LN-A49X-01A-31D-A27G-09		31774849	166247581	34	29704											
CCBP2	1238	genome.wustl.edu	37	chr3	42906441	42906441	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggagatcgttcatgcTcagccctaccacaggctgag	9	9	10	13	1	2	2	2	1	0	1	3	3	2	2	3	2	4	3	3	2	2	3	rs150917727		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:42906441T>C	ENST00000422265.1	+	3	622	c.447T>C	c.(445-447)gcT>gcC	p.A149A	RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000442925.1_Silent_p.A149A|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.A149A	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	149					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TCGTTCATGCTCAGCCCTACC	0.507																																																	0													99	103	102					3																	42906441		2203	4300	6503	SO:0001819	synonymous_variant	0			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"GPCR / Class A : Chemokine receptors : Atypical"	1565	protein-coding gene	gene with protein product		602648	"chemokine binding protein 2"	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.447T>C	3.37:g.42906441T>C			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.A149	ENST00000422265.1	37	c.447	CCDS2706.1	3																																																																																			ACKR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4	ENSG00000144648		0.507	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACKR2	HGNC	protein_coding	OTTHUMT00000256645.2		0	41	0	T	NM_001296		42906441	1			no_errors	ENST00000273145	ensembl	human	known	74_37	silent	13.33	13	2	SNP	0.800	C	C	42906441	T	C	42906441	2	2	109	1	0	0	0	0	0	0	0	1	2741	1538	54	4		4	CCBP2	3	42906441	Silent	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	11131592	42906441	155115989	35	29705											
USP19	10869	genome.wustl.edu	37	chr3	49148789	49148789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttggatgctggtacccaGgcacagcagctgtgtgagaa	10	8	13	10	0	0	1	0	1	0	1	0	3	0	2	1	3	4	5	1	3	2	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:49148789G>C	ENST00000398888.2	-	21	3236	c.2918C>G	c.(2917-2919)cCt>cGt	p.P973R	USP19_ENST00000398898.2_Missense_Mutation_p.P1013R|USP19_ENST00000434032.2_Missense_Mutation_p.P1074R|USP19_ENST00000453664.1_Missense_Mutation_p.P1064R|USP19_ENST00000398896.1_Missense_Mutation_p.P781R|USP19_ENST00000398892.3_Missense_Mutation_p.P1013R|USP19_ENST00000417901.1_Missense_Mutation_p.P1076R	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	973	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTACCCAGGCACAGCAGC	0.532																																																	0													98	103	101					3																	49148789		2053	4201	6254	SO:0001583	missense	0			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"Zinc fingers, MYND-type", "Ubiquitin-specific peptidases"	12617	protein-coding gene	gene with protein product		614471	"ubiquitin specific protease 19"			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2918C>G	3.37:g.49148789G>C	ENSP00000381863:p.Pro973Arg		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67	p.P973R	ENST00000398888.2	37	c.2918	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897768	0.33535	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.19806	2.15;2.13;2.23;2.21;2.12;2.24;2.21	6.04	5.15	0.70609	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.536775	0.22298	N	0.061905	T	0.20577	0.0495	L	0.33485	1.01	0.33623	D	0.605095	P;P;P;P;B	0.49307	0.922;0.922;0.681;0.627;0.175	B;B;B;B;B	0.43575	0.424;0.424;0.403;0.238;0.055	T	0.24297	-1.0164	10	0.49607	T	0.09	-3.6039	14.9331	0.70933	0.0:0.0:0.8568:0.1432	.	1074;1064;973;1013;781	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	R	781;1013;1076;1064;1013;973;1074	ENSP00000381870:P781R;ENSP00000381872:P1013R;ENSP00000395260:P1076R;ENSP00000400090:P1064R;ENSP00000381867:P1013R;ENSP00000381863:P973R;ENSP00000401197:P1074R	ENSP00000381863:P973R	P	-	2	0	USP19	49123793	1.000000	0.71417	0.908000	0.35775	0.464000	0.32679	7.128000	0.77217	1.532000	0.49169	0.650000	0.86243	CCT	USP19	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000172046		0.532	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	-	0	30	0	G	NM_006677		49148789	-1	tier1	-	no_errors	ENST00000398888	ensembl	human	known	74_37	missense	17.24	24	5	SNP	0.998	C	C	49148789	G	C	49148789	3	2	109	1	0	0	0	0	1	0	0	0	17099	1000	35	5	1062	5	USP19	3	49148789	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	6242348	49148789	148873641	36	29706											
PLXND1	23129	genome.wustl.edu	37	chr3	129286396	129286396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggggatgccctggctgCggttcagctccttggtgaga	6	9	17	9	1	1	1	1	1	0	1	2	4	2	3	2	6	3	3	2	6	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:129286396C>T	ENST00000324093.4	-	22	4203	c.4025G>A	c.(4024-4026)cGc>cAc	p.R1342H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1342H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1342					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCCCTGGCTGCGGTTCAGCTC	0.627																																					Ovarian(97;366 1484 3738 22084 39045)												0													73	55	61					3																	129286396		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4025G>A	3.37:g.129286396C>T	ENSP00000317128:p.Arg1342His		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1342H	ENST00000324093.4	37	c.4025	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.482358	0.96307	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.35789	1.34;1.29	5.3	5.3	0.74995	.	0.065504	0.64402	D	0.000006	T	0.58409	0.2120	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.56353	-0.7993	10	0.45353	T	0.12	.	18.9542	0.92653	0.0:1.0:0.0:0.0	.	1342	Q9Y4D7	PLXD1_HUMAN	H	1342	ENSP00000317128:R1342H;ENSP00000376931:R1342H	ENSP00000317128:R1342H	R	-	2	0	PLXND1	130769086	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.516000	0.81772	2.490000	0.84030	0.655000	0.94253	CGC	PLXND1	-	NULL	ENSG00000004399		0.627	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	77	0	C	NM_015103		129286396	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T	T	129286396	C	T	129286396	3	4	109	1	0	0	0	0	1	0	0	0	12166	768	27	1	1812	1	PLXND1	3	129286396	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	80137607	129286396	68736034	37	29707											
STAG1	10274	genome.wustl.edu	37	chr3	136141859	136141859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtttctatcatcaatttGagttttcctttctttggcag	6	22	6	7	0	4	1	2	1	2	0	5	1	5	1	1	1	0	3	1	1	2	8			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:136141859G>C	ENST00000383202.2	-	17	1934	c.1678C>G	c.(1678-1680)Caa>Gaa	p.Q560E	STAG1_ENST00000434713.2_Missense_Mutation_p.Q334E|STAG1_ENST00000236698.5_Missense_Mutation_p.Q560E|STAG1_ENST00000536929.1_Missense_Mutation_p.Q144E	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	560					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCATCAATTTGAGTTTTCCTT	0.294																																																	0													106	100	102					3																	136141859		2201	4295	6496	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1678C>G	3.37:g.136141859G>C	ENSP00000372689:p.Gln560Glu		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.Q560E	ENST00000383202.2	37	c.1678	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392529	0.62066	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.71	5.71	0.89125	Armadillo-type fold (1);	0.054391	0.85682	N	0.000000	T	0.18676	0.0448	L	0.55103	1.725	0.80722	D	1	B;B;B	0.17038	0.01;0.02;0.01	B;B;B	0.20577	0.03;0.02;0.03	T	0.15521	-1.0434	10	0.02654	T	1	.	19.9133	0.97031	0.0:0.0:1.0:0.0	.	577;560;560	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	E	560;560;334;144	ENSP00000372689:Q560E;ENSP00000236698:Q560E;ENSP00000404396:Q334E;ENSP00000445787:Q144E	ENSP00000236698:Q560E	Q	-	1	0	STAG1	137624549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.707000	0.92482	0.650000	0.86243	CAA	STAG1	-	superfamily_ARM-type_fold	ENSG00000118007		0.294	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1		0	76	0	G	NM_005862		136141859	-1			no_errors	ENST00000383202	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	C	C	136141859	G	C	136141859	3	2	109	1	0	0	0	0	1	0	0	0	15289	1299	45	5	2170	5	STAG1	3	136141859	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	6855463	136141859	61880571	38	29708											
ATP13A3	79572	genome.wustl.edu	37	chr3	194147972	194147972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagttctttccaggcaggaTttaaactcactatattgaaa	14	13	6	8	0	2	1	1	1	1	0	3	2	3	2	1	2	1	2	1	2	6	7			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr3:194147972T>C	ENST00000439040.1	-	29	3748	c.2957A>G	c.(2956-2958)aAt>aGt	p.N986S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.N986S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	986						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CCAGGCAGGATTTAAACTCAC	0.358																																																	0													48	48	48					3																	194147972		1814	4068	5882	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"ATPases / P-type"	24113	protein-coding gene	gene with protein product	"ATPase family homolog up regulated in senescence cells"	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2957A>G	3.37:g.194147972T>C	ENSP00000416508:p.Asn986Ser		Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.N986S	ENST00000439040.1	37	c.2957	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	T	18.06	3.540270	0.65085	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.88354	-2.37;-2.37	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	N	0.20328	0.56	0.58432	D	0.999999	P	0.37525	0.598	B	0.40329	0.326	T	0.79351	-0.1839	10	0.11182	T	0.66	-22.1803	15.2446	0.73497	0.0:0.0:0.0:1.0	.	986	Q9H7F0	AT133_HUMAN	S	986	ENSP00000416508:N986S;ENSP00000256031:N986S	ENSP00000256031:N986S	N	-	2	0	ATP13A3	195629261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.998000	0.58463	0.477000	0.44152	AAT	ATP13A3	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000133657		0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	-	0	43	0	T	NM_024524		194147972	-1	tier1	-	no_errors	ENST00000256031	ensembl	human	known	74_37	missense	14.71	29	5	SNP	1.000	C	C	194147972	T	C	194147972	3	2	109	1	0	0	0	0	1	0	0	0	1126	1493	52	4	743	4	ATP13A3	3	194147972	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	58006113	194147972	3874458	39	29709											
RCHY1	25898	genome.wustl.edu	37	chr4	76439454	76439454	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcagccccgctgacctcGctcttgaccgctggcgccat	4	8	10	19	5	1	2	0	2	1	0	3	2	1	2	5	1	1	4	5	1	0	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr4:76439454G>A	ENST00000324439.5	-	1	441	c.43C>T	c.(43-45)Cga>Tga	p.R15*	THAP6_ENST00000514480.1_5'Flank|THAP6_ENST00000380837.3_5'Flank|RCHY1_ENST00000513257.1_Nonsense_Mutation_p.R15*|THAP6_ENST00000507557.1_5'Flank|RCHY1_ENST00000514021.1_Intron|RCHY1_ENST00000451788.1_Nonsense_Mutation_p.R15*|THAP6_ENST00000507556.1_5'Flank|THAP6_ENST00000502620.1_5'Flank|RCHY1_ENST00000512706.1_Silent_p.S7S|THAP6_ENST00000311638.3_5'Flank|THAP6_ENST00000504190.1_5'Flank|THAP6_ENST00000507885.1_5'Flank|THAP6_ENST00000508105.1_5'Flank|RCHY1_ENST00000380840.2_Nonsense_Mutation_p.R15*	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	15					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGCTGACCTCGCTCTTGACCG	0.612																																																	0													88	77	81					4																	76439454		2203	4300	6503	SO:0001587	stop_gained	0			AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"RING-type (C3HC4) zinc fingers"	17479	protein-coding gene	gene with protein product	"androgen-receptor N-terminal-interacting protein", "p53-induced protein with a RING-H2 domain", "zinc finger, CHY-type"	607680	"zinc finger protein 363", "ring finger and CHY zinc finger domain containing 1"	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.43C>T	4.37:g.76439454G>A	ENSP00000321239:p.Arg15*		B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Nonsense_Mutation	SNP	pfam_Znf_CHY,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R15*	ENST00000324439.5	37	c.43	CCDS3567.1	4	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538035	0.65085	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000380840;ENST00000513257;ENST00000507014	.	.	.	4.28	3.4	0.38934	.	0.762404	0.11702	N	0.537851	.	.	.	.	.	.	0.22066	N	0.999382	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.768	8.9908	0.36022	0.0:0.0:0.7792:0.2208	.	.	.	.	X	15	.	ENSP00000321239:R15X	R	-	1	2	RCHY1	76658478	0.004000	0.15560	0.017000	0.16124	0.346000	0.29079	1.495000	0.35627	0.942000	0.37525	0.555000	0.69702	CGA	RCHY1	-	NULL	ENSG00000163743		0.612	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCHY1	HGNC	protein_coding	OTTHUMT00000252411.2		0	45	0	G	NM_015436		76439454	-1			no_errors	ENST00000324439	ensembl	human	known	74_37	nonsense	12.77	41	6	SNP	0.006	A	A	76439454	G	A	76439454	4	1	109	1	0	0	0	0	0	1	0	0	13222	1095	38	1	778	1	RCHY1	4	76439454	Nonsense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09		76439454	114714822	40	29710											
C4orf3	401152	genome.wustl.edu	37	chr4	120225419	120225419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaattgtgaaaacttcacaTttaacttgtctccaccttct	11	15	3	12	0	3	1	1	1	2	0	4	1	3	1	3	0	2	0	3	0	4	6			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr4:120225419T>C	ENST00000399075.4	-	1	181	c.182A>G	c.(181-183)aAt>aGt	p.N61S		NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	0						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AAACTTCACATTTAACTTGTC	0.353																																																	0													302	242	260					4																	120225419		692	1591	2283	SO:0001583	missense	0				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"HCV F-transactivated protein 1"						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000399075.4:c.182A>G	4.37:g.120225419T>C	ENSP00000382026:p.Asn61Ser		Q6J203	Missense_Mutation	SNP	NULL	p.N61S	ENST00000399075.4	37	c.182	CCDS54798.1	4	.	.	.	.	.	.	.	.	.	.	T	16.76	3.213477	0.58452	.	.	ENSG00000164096	ENST00000399075	T	0.35421	1.31	2.87	2.87	0.33458	.	.	.	.	.	T	0.41373	0.1156	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.55897	-0.8068	5	0.87932	D	0	.	7.5661	0.27879	0.0:0.0:0.0:1.0	.	.	.	.	S	61	ENSP00000382026:N61S	ENSP00000382026:N61S	N	-	2	0	C4orf3	120444867	0.060000	0.20803	0.015000	0.15790	0.841000	0.47740	0.508000	0.22692	1.536000	0.49237	0.533000	0.62120	AAT	C4orf3	-	NULL	ENSG00000164096		0.353	C4orf3-002	KNOWN	basic|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364577.2	-	0	105	0	T	NM_001001701		120225419	-1	tier1	-	no_errors	ENST00000399075	ensembl	human	known	74_37	missense	10.78	91	11	SNP	0.025	C	C	120225419	T	C	120225419	3	2	109	1	0	0	0	0	1	0	0	0	2267	1493	52	4	429	4	C4orf3	4	120225419	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	43785965	120225419	70928857	41	29711											
BRD9	65980	genome.wustl.edu	37	chr5	884124	884124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccaccagcgccagcaCgtgctcctctgcggtactgt	5	9	11	16	3	1	0	0	0	1	0	3	0	3	0	4	1	6	4	4	1	1	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:884124C>T	ENST00000467963.1	-	8	1061	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	BRD9_ENST00000323510.4_Missense_Mutation_p.V203M|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000435709.2_Missense_Mutation_p.V183M|BRD9_ENST00000388890.4_Missense_Mutation_p.V183M|BRD9_ENST00000483173.1_Missense_Mutation_p.V246M	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	299					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGCGCCAGCACGTGCTCCTCT	0.622																																																	0													131	100	111					5																	884124		2203	4300	6503	SO:0001583	missense	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.895G>A	5.37:g.884124C>T	ENSP00000419765:p.Val299Met		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V299M	ENST00000467963.1	37	c.895	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201117	0.79015	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.03	4.16	0.48862	.	0.124363	0.53938	D	0.000043	T	0.66237	0.2769	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;P;P	0.71870	0.975;0.94;0.901;0.901	T	0.68473	-0.5399	10	0.51188	T	0.08	-33.367	13.2681	0.60146	0.0:0.9219:0.0:0.0781	.	246;299;203;183	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	M	203;183;246;299;183;203	ENSP00000323557:V203M;ENSP00000373542:V183M;ENSP00000419845:V246M;ENSP00000419765:V299M;ENSP00000402984:V183M;ENSP00000420722:V203M	ENSP00000323557:V203M	V	-	1	0	BRD9	937124	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	7.030000	0.76484	1.110000	0.41699	0.609000	0.83330	GTG	BRD9	-	pfam_DUF3512	ENSG00000028310		0.622	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	-	0	43	0	C	NM_023924		884124	-1	tier1	-	no_errors	ENST00000467963	ensembl	human	known	74_37	missense	40.91	26	18	SNP	1.000	T	T	884124	C	T	884124	3	4	109	1	0	0	0	0	1	0	0	0	1511	536	19	1	934	1	BRD9	5	884124	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		884124	180031136	42	29712											
IRX4	50805	genome.wustl.edu	37	chr5	1878497	1878499	+	In_Frame_Del	DEL	GGC	GGC	-																															tcagtctggctcagggaggtGgcggcggcggcggcggcggt																								rs570462700	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:1878497_1878499delGGC	ENST00000505790.1	-	6	1600_1602	c.1144_1146delGCC	c.(1144-1146)gccdel	p.A382del	IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000513692.1_In_Frame_Del_p.A382del|IRX4_ENST00000231357.2_In_Frame_Del_p.A382del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	382	Poly-Ala.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TCAGGGAggtggcggcggcggcg	0.739																																																	0										23,21,1962		8,0,7,8,5,975							0.6			4	3,77,4640		1,0,1,12,53,2293	no	codingComplex	IRX4	NM_016358.2		9,0,8,20,58,3268	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6949,2.1934,1.8436				26,98,6602				SO:0001651	inframe_deletion	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"Homeoboxes / TALE class"	6129	protein-coding gene	gene with protein product		606199	"iroquois homeobox protein 4"			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.1144_1146delGCC	5.37:g.1878506_1878508delGGC	ENSP00000423161:p.Ala382del		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A382in_frame_del	ENST00000505790.1	37	c.1146_1144	CCDS3867.1	5																																																																																			IRX4	-	NULL	ENSG00000113430		0.739	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1		0	21	0	GGC	NM_016358		1878499	-1	tier1		no_errors	ENST00000231357	ensembl	human	known	74_37	in_frame_del	22.22	7	2	DEL	0.734:0.681:0.628	-	-	1878499	GGC	-	1878497	7	5	109	1	0	1	0	1	0	0	0	0	7873	1335	47	0	417	0	IRX4	5	1878497	In_Frame_Del	DEL	GGC	TCGA-LN-A49X-01A-31D-A27G-09	994373	1878497	179036763	43	29713											
FAM105B	90268	genome.wustl.edu	37	chr5	14693028	14693028	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaccggctctccaagtaCaacacggaagaattcatcac	13	8	8	12	2	3	1	2	0	1	1	4	2	3	2	2	2	3	3	2	2	6	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:14693028C>A	ENST00000284274.4	+	7	1008	c.930C>A	c.(928-930)taC>taA	p.Y310*		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		310	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCTCCAAGTACAACACGGAAG	0.532																																																	0													134	137	136					5																	14693028		2060	4210	6270	SO:0001587	stop_gained	0																														ENST00000284274.4:c.930C>A	5.37:g.14693028C>A	ENSP00000284274:p.Tyr310*		D3DTD3|Q8NAS0|Q96IA3	Nonsense_Mutation	SNP	prints_FAM105,prints_FAM105B,prints_FAM105A	p.Y310*	ENST00000284274.4	37	c.930	CCDS43302.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.064940|5.064940	0.93898|0.93898	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000506417|ENST00000284274	.|.	.|.	.|.	5.73|5.73	1.38|1.38	0.22167|0.22167	.|.	.|0.327243	.|0.34002	.|N	.|0.004351	T|.	0.29158|.	0.0725|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.18209|.	-1.0344|.	4|.	.|0.02654	.|T	.|1	-9.4627|-9.4627	9.7097|9.7097	0.40238|0.40238	0.0:0.505:0.0:0.495|0.0:0.505:0.0:0.495	.|.	.|.	.|.	.|.	K|X	42|310	.|.	.|ENSP00000284274:Y310X	Q|Y	+|+	1|3	0|2	FAM105B|FAM105B	14746028|14746028	0.764000|0.764000	0.28473|0.28473	0.889000|0.889000	0.34880|0.34880	0.918000|0.918000	0.54935|0.54935	-0.058000|-0.058000	0.11750|0.11750	-0.042000|-0.042000	0.13535|0.13535	0.655000|0.655000	0.94253|0.94253	CAA|TAC	FAM105B	-	prints_FAM105	ENSG00000154124		0.532	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105B	HGNC	protein_coding	OTTHUMT00000366012.1	-	0	68	0	C			14693028	1	tier1	-	no_errors	ENST00000284274	ensembl	human	known	74_37	nonsense	32.04	70	33	SNP	0.977	A	A	14693028	C	A	14693028	4	1	109	1	0	0	0	0	0	1	0	0	5407	489	17	3	956	3	FAM105B	5	14693028	Nonsense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	12814531	14693028	166222232	44	29714											
KDM3B	51780	genome.wustl.edu	37	chr5	137753253	137753253	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttgtatcagtcgacAgaacaaatctgtattgagac	12	11	8	10	1	2	2	1	1	1	2	3	4	2	2	1	0	2	2	1	0	4	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:137753253A>T	ENST00000314358.5	+	13	3589	c.3389A>T	c.(3388-3390)cAg>cTg	p.Q1130L	KDM3B_ENST00000394866.1_Missense_Mutation_p.Q786L|KDM3B_ENST00000542866.1_Missense_Mutation_p.Q162L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1130					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATCAGTCGACAGAACAAATCT	0.433																																																	0													152	132	139					5																	137753253		2203	4300	6503	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3389A>T	5.37:g.137753253A>T	ENSP00000326563:p.Gln1130Leu		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.Q1130L	ENST00000314358.5	37	c.3389	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	A	33	5.280476	0.95489	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72167	-0.04;-0.63;-0.56	5.55	5.55	0.83447	.	0.051941	0.85682	D	0.000000	T	0.77150	0.4088	M	0.71206	2.165	0.58432	D	0.999999	P;B	0.50528	0.936;0.23	P;B	0.50934	0.654;0.082	T	0.77819	-0.2446	10	0.40728	T	0.16	-18.9871	15.6827	0.77385	1.0:0.0:0.0:0.0	.	786;1130	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	L	1130;920;786;162	ENSP00000326563:Q1130L;ENSP00000378335:Q786L;ENSP00000439462:Q162L	ENSP00000326563:Q1130L	Q	+	2	0	KDM3B	137781152	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	9.079000	0.94032	2.103000	0.63969	0.460000	0.39030	CAG	KDM3B	-	NULL	ENSG00000120733		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	-	0	96	0	A	NM_016604		137753253	1	tier1	-	no_errors	ENST00000314358	ensembl	human	known	74_37	missense	16.67	70	14	SNP	1.000	T	T	137753253	A	T	137753253	3	4	109	1	0	0	0	0	1	0	0	0	8154	188	7	5	3439	5	KDM3B	5	137753253	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	123060225	137753253	43162007	45	29715											
CTNNA1	1495	genome.wustl.edu	37	chr5	138221923	138221923	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgtaaagaaagaagtgAtgcactcaattctgcaatag	16	9	10	6	1	2	3	1	1	1	2	2	4	2	4	0	1	2	3	0	1	7	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:138221923A>T	ENST00000302763.7	+	8	1175	c.1085A>T	c.(1084-1086)gAt>gTt	p.D362V	CTNNA1_ENST00000518825.1_Missense_Mutation_p.D362V|CTNNA1_ENST00000540387.1_De_novo_Start_OutOfFrame|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D259V|CTNNA1_ENST00000520400.1_3'UTR	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	362	Interaction with alpha-actinin.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAAAGAAGTGATGCACTCAAT	0.373																																																	0													136	142	140					5																	138221923		2203	4300	6503	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"catenin (cadherin-associated protein), alpha 1 (102kD)"			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1085A>T	5.37:g.138221923A>T	ENSP00000304669:p.Asp362Val		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.D362V	ENST00000302763.7	37	c.1085	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	A	25.2	4.609341	0.87258	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T	0.37584	1.19;1.19;1.19	5.82	5.82	0.92795	.	0.047041	0.85682	D	0.000000	T	0.45196	0.1330	M	0.64404	1.975	0.80722	D	1	P;B;B	0.40909	0.732;0.146;0.036	P;B;B	0.45449	0.481;0.219;0.102	T	0.34650	-0.9820	10	0.40728	T	0.16	-19.7981	15.849	0.78912	1.0:0.0:0.0:0.0	.	362;239;362	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	V	259;362;362;347;362	ENSP00000347190:D259V;ENSP00000304669:D362V;ENSP00000427821:D362V	ENSP00000304669:D362V	D	+	2	0	CTNNA1	138249822	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.235000	0.95353	2.225000	0.72522	0.533000	0.62120	GAT	CTNNA1	-	pfam_Vinculin/catenin	ENSG00000044115		0.373	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	-	0	64	0	A	NM_001903		138221923	1	tier1	-	no_errors	ENST00000302763	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	T	T	138221923	A	T	138221923	3	4	109	1	0	0	0	0	1	0	0	0	4021	333	12	5	1111	5	CTNNA1	5	138221923	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	468670	138221923	42693337	46	29716											
PCDHA3	56145	genome.wustl.edu	37	chr5	140182336	140182336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggagagcggcaaggtgtaCgcgctgcagccgctggacca	8	4	17	12	5	0	1	0	0	0	1	0	3	0	2	2	4	4	5	2	4	2	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:140182336C>T	ENST00000522353.2	+	1	1554	c.1554C>T	c.(1552-1554)taC>taT	p.Y518Y	PCDHA3_ENST00000532566.2_Silent_p.Y518Y|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	518	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGGTGTACGCGCTGCAGC	0.687																																																	0													77	80	79					5																	140182336		2203	4297	6500	SO:0001819	synonymous_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"Cadherins / Protocadherins : Clustered"	8669	other	complex locus constituent	"KIAA0345-like 11"	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1554C>T	5.37:g.140182336C>T			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.Y518	ENST00000522353.2	37	c.1554	CCDS54915.1	5																																																																																			PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000255408		0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0	213	0	C	NM_018906		140182336	1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	silent	5.47	190	11	SNP	0.732	T	T	140182336	C	T	140182336	2	4	109	1	0	0	0	0	0	0	0	1	11564	547	19	1		1	PCDHA3	5	140182336	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	1960413	140182336	40732924	47	29717											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140870083	140870083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actatatcatcgagctgctgGccagcgatgctggttcacct	8	11	10	12	2	2	0	2	0	0	0	3	2	2	0	2	2	4	4	2	2	2	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:140870083G>A	ENST00000252087.1	+	1	1276	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCTGCTGGCCAGCGATGC	0.517																																																	0													196	198	197					5																	140870083		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1276G>A	5.37:g.140870083G>A	ENSP00000252087:p.Ala426Thr		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A426T	ENST00000252087.1	37	c.1276	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387186	0.82902	.	.	ENSG00000240764	ENST00000252087	T	0.63580	-0.05	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000028	D	0.86948	0.6056	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90539	0.4501	10	0.87932	D	0	.	19.3074	0.94169	0.0:0.0:1.0:0.0	.	426;426	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	T	426	ENSP00000252087:A426T	ENSP00000252087:A426T	A	+	1	0	PCDHGC5	140850267	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.760000	0.85248	2.890000	0.99128	0.655000	0.94253	GCC	PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.517	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0	55	0	G	NM_018929		140870083	1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	A	A	140870083	G	A	140870083	3	1	109	1	0	0	0	0	1	0	0	0	11610	1203	42	3	1278	3	PCDHGC5	5	140870083	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	687747	140870083	40045177	48	29718											
GRIA1	2890	genome.wustl.edu	37	chr5	153085558	153085558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgaccagtccaatgagtTtgggatattcaacagtttgt	11	13	10	7	0	1	2	1	2	0	0	2	3	2	3	2	1	1	2	2	1	3	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:153085558T>A	ENST00000285900.5	+	11	2097	c.1754T>A	c.(1753-1755)tTt>tAt	p.F585Y	GRIA1_ENST00000340592.5_Missense_Mutation_p.F585Y|GRIA1_ENST00000521843.2_Missense_Mutation_p.F516Y|GRIA1_ENST00000448073.4_Missense_Mutation_p.F595Y|GRIA1_ENST00000518783.1_Missense_Mutation_p.F595Y|GRIA1_ENST00000518142.1_Missense_Mutation_p.F505Y	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	585					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.F585Y(2)|p.F585C(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TCCAATGAGTTTGGGATATTC	0.507																																																	3	Substitution - Missense(3)	liver(2)|large_intestine(1)											142	126	131					5																	153085558		2203	4300	6503	SO:0001583	missense	0				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1754T>A	5.37:g.153085558T>A	ENSP00000285900:p.Phe585Tyr		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.F595Y	ENST00000285900.5	37	c.1784	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	T	27.8	4.866445	0.91511	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;D;T;T;T	0.97378	1.91;1.91;1.91;-4.36;1.91;1.91;1.91	5.06	5.06	0.68205	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	D	0.98172	0.9396	M	0.78285	2.405	0.80722	D	1	D;D;D;D;D;D	0.76494	0.984;0.984;0.998;0.984;0.981;0.999	P;P;D;P;P;D	0.79784	0.78;0.78;0.993;0.78;0.591;0.986	D	0.99198	1.0872	10	0.87932	D	0	.	14.2848	0.66240	0.0:0.0:0.0:1.0	.	595;595;505;595;585;585	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	Y	585;585;505;539;585;516;516;595;595	ENSP00000285900:F585Y;ENSP00000427920:F505Y;ENSP00000339343:F585Y;ENSP00000427864:F516Y;ENSP00000442108:F516Y;ENSP00000428994:F595Y;ENSP00000415569:F595Y	ENSP00000285900:F585Y	F	+	2	0	GRIA1	153065751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.859000	0.86982	2.020000	0.59435	0.533000	0.62120	TTT	GRIA1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000155511		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3		0	45	0	T			153085558	1			no_errors	ENST00000448073	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	A	A	153085558	T	A	153085558	3	1	109	1	0	0	0	0	1	0	0	0	6794	1841	64	5	1796	5	GRIA1	5	153085558	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	12215475	153085558	27829702	49	29719											
HMMR	3161	genome.wustl.edu	37	chr5	162917425	162917426	+	Frame_Shift_Ins	INS	-	-	A																															aactccgctgtcagcttgctINSaaaaaaaaacaaagtgagac																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr5:162917425_162917426insA	ENST00000358715.3	+	17	2025_2026	c.1989_1990insA	c.(1990-1992)aaafs	p.K664fs	RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.K665fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.K649fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.K578fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	664	Hyaluronic acid-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GTCAGCTTGCTAAAAAAAAACA	0.307																																																	0																																										SO:0001589	frameshift_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"CD molecules"	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1998dupA	5.37:g.162917434_162917434dupA	ENSP00000351554:p.Lys664fs		A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	NULL	p.Q667fs	ENST00000358715.3	37	c.1992_1993	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1		0	25	0	-	NM_012484		162917426	1	tier1		no_errors	ENST00000393915	ensembl	human	known	74_37	frame_shift_ins	9.68	28	3	INS	0.976:1.000	A	A	162917426	-	A	162917425	7	5	109	1	0	1	1	0	0	0	0	0	7269	1509	53	0	2058	0	HMMR	5	162917425	Frame_Shift_Ins	INS	-	TCGA-LN-A49X-01A-31D-A27G-09	9831867	162917425	17997835	50	29720											
NUP153	9972	genome.wustl.edu	37	chr6	17661926	17661926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaaagcgtgttctttcTcgtctcatcttgccacctcc	7	13	6	15	2	4	0	1	0	4	0	7	0	5	0	3	0	3	2	3	0	2	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:17661926T>C	ENST00000262077.2	-	11	1352	c.1353A>G	c.(1351-1353)cgA>cgG	p.R451R	NUP153_ENST00000537253.1_Silent_p.R451R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	451					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTGTTCTTTCTCGTCTCATCT	0.423																																																	0													141	138	139					6																	17661926		2203	4300	6503	SO:0001819	synonymous_variant	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"nucleoporin 153kD"			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1353A>G	6.37:g.17661926T>C			B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.R451	ENST00000262077.2	37	c.1353	CCDS4541.1	6																																																																																			NUP153	-	pfam_Nucleoporin_Nup153	ENSG00000124789		0.423	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	-	0	48	0	T			17661926	-1	tier1	-	no_errors	ENST00000537253	ensembl	human	known	74_37	silent	20.69	23	6	SNP	1.000	C	C	17661926	T	C	17661926	2	2	109	1	0	0	0	0	0	0	0	1	10794	1538	54	4		4	NUP153	6	17661926	Silent	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09		17661926	153453141	51	29721											
HIST1H3B	8358	genome.wustl.edu	37	chr6	26032006	26032006	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtaggcctcacaagcctCctgcagcgccatcaccgcag	10	5	9	17	2	2	0	2	0	0	0	3	0	3	0	5	1	3	3	5	1	3	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:26032006C>A	ENST00000244661.2	-	1	282	c.283G>T	c.(283-285)Gag>Tag	p.E95*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	95					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TCACAAGCCTCCTGCAGCGCC	0.562																																																	0													72	73	73					6																	26032006		2203	4300	6503	SO:0001587	stop_gained	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"Histones / Replication-dependent"	4776	protein-coding gene	gene with protein product		602819	"H3 histone family, member L", "histone 1, H3b"	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.283G>T	6.37:g.26032006C>A	ENSP00000244661:p.Glu95*		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E95*	ENST00000244661.2	37	c.283	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	15.22	2.767842	0.49680	.	.	ENSG00000124693	ENST00000244661	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.7852	0.88535	0.0:1.0:0.0:0.0	.	.	.	.	X	95	.	ENSP00000244661:E95X	E	-	1	0	HIST1H3B	26139985	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	7.492000	0.81482	2.487000	0.83934	0.561000	0.74099	GAG	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.562	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	-	0	95	0	C	NM_003537		26032006	-1	tier1	-	no_errors	ENST00000244661	ensembl	human	known	74_37	nonsense	13.59	89	14	SNP	1.000	A	A	26032006	C	A	26032006	4	1	109	1	0	0	0	0	0	1	0	0	7183	864	30	3	131	3	HIST1H3B	6	26032006	Nonsense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	8370080	26032006	145083061	52	29722											
HIST1H2BH	8345	genome.wustl.edu	37	chr6	26251922	26251922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcccgccccgaagaagggctCcaagaaggcggtgaccaagg	11	3	14	13	3	0	3	0	1	0	2	2	4	2	3	5	4	0	1	5	4	5	0			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:26251922C>G	ENST00000356350.2	+	1	44	c.44C>G	c.(43-45)tCc>tGc	p.S15C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	15					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AAGAAGGGCTCCAAGAAGGCG	0.527																																																	0													100	91	94					6																	26251922		2203	4300	6503	SO:0001583	missense	0			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"Histones / Replication-dependent"	4755	protein-coding gene	gene with protein product		602806	"H2B histone family, member J", "histone 1, H2bh"	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.44C>G	6.37:g.26251922C>G	ENSP00000348706:p.Ser15Cys		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S15C	ENST00000356350.2	37	c.44	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	14.29	2.492496	0.44352	.	.	ENSG00000197459	ENST00000356350	T	0.22945	1.93	4.74	4.74	0.60224	Histone-fold (2);	.	.	.	.	T	0.26195	0.0639	M	0.86502	2.82	0.41757	D	0.989698	B	0.26809	0.16	B	0.17979	0.02	T	0.28459	-1.0043	9	0.87932	D	0	.	17.5947	0.88007	0.0:1.0:0.0:0.0	.	15	Q93079	H2B1H_HUMAN	C	15	ENSP00000348706:S15C	ENSP00000348706:S15C	S	+	2	0	HIST1H2BH	26359901	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	7.512000	0.81728	2.561000	0.86390	0.655000	0.94253	TCC	HIST1H2BH	-	superfamily_Histone-fold	ENSG00000197459		0.527	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	-	0	148	0	C	NM_003524		26251922	1	tier1	-	no_errors	ENST00000356350	ensembl	human	known	74_37	missense	10.66	109	13	SNP	1.000	G	G	26251922	C	G	26251922	3	3	109	1	0	0	0	0	1	0	0	0	7174	855	30	5	46	5	HIST1H2BH	6	26251922	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	219916	26251922	144863145	53	29723											
RNGTT	8732	genome.wustl.edu	37	chr6	89600276	89600276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaaagtttaatattttgCttgtccatggaaacaggctg	12	15	8	6	0	1	0	0	0	1	0	2	1	2	1	1	2	2	3	1	2	5	7			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:89600276C>T	ENST00000369485.4	-	8	1020	c.834G>A	c.(832-834)aaG>aaA	p.K278K	RNGTT_ENST00000369475.3_Silent_p.K278K|RNGTT_ENST00000538899.1_Silent_p.K218K|RNGTT_ENST00000265607.6_Silent_p.K278K	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	278	GTase.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAATATTTTGCTTGTCCATGG	0.383																																																	0													102	93	96					6																	89600276		2203	4300	6503	SO:0001819	synonymous_variant	0			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.834G>A	6.37:g.89600276C>T			E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-sp_Pase	p.K278	ENST00000369485.4	37	c.834	CCDS5017.1	6																																																																																			RNGTT	-	pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc	ENSG00000111880		0.383	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1		0	49	0	C			89600276	-1			no_errors	ENST00000369485	ensembl	human	known	74_37	silent	5.00	38	2	SNP	1.000	T	T	89600276	C	T	89600276	2	4	109	1	0	0	0	0	0	0	0	1	13548	796	28	3		3	RNGTT	6	89600276	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	63348354	89600276	81514791	54	29724											
PREP	5550	genome.wustl.edu	37	chr6	105729749	105729749	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcaataacacaaccaaaGaggtcaggtctctgatttgc	13	9	10	9	0	2	2	1	1	1	1	3	2	2	2	1	3	3	1	1	3	4	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:105729749G>T	ENST00000369110.3	-	14	1902	c.1710C>A	c.(1708-1710)ctC>ctA	p.L570L	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	570					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CACAACCAAAGAGGTCAGGTC	0.433																																																	0													90	79	82					6																	105729749		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1710C>A	6.37:g.105729749G>T			Q8N6D4	Silent	SNP	pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A	p.L570	ENST00000369110.3	37	c.1710	CCDS5053.1	6																																																																																			PREP	-	pfam_Peptidase_S9,prints_Peptidase_S9A	ENSG00000085377		0.433	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1		0	43	0	G			105729749	-1			no_errors	ENST00000369110	ensembl	human	known	74_37	silent	5.41	35	2	SNP	0.999	T	T	105729749	G	T	105729749	2	4	109	1	0	0	0	0	0	0	0	1	12516	929	33	3		3	PREP	6	105729749	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	16129473	105729749	65385318	55	29725											
C6orf170	221322	genome.wustl.edu	37	chr6	121638672	121638672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaatcactatcagagcaaTtgtctgtgcggtaactatgg	12	12	10	7	1	3	2	2	1	1	1	3	2	3	2	0	2	3	2	0	2	5	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr6:121638672T>C	ENST00000398212.2	-	3	513	c.464A>G	c.(463-465)aAt>aGt	p.N155S	TBC1D32_ENST00000275159.6_Missense_Mutation_p.N155S	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	155					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										ATCAGAGCAATTGTCTGTGCG	0.328																																																	0													302	275	284					6																	121638672		1863	4093	5956	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.464A>G	6.37:g.121638672T>C	ENSP00000381270:p.Asn155Ser		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.N155S	ENST00000398212.2	37	c.464	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	T	9.991	1.230866	0.22542	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.23552	1.9;1.9;1.9	5.02	3.85	0.44370	.	0.048831	0.85682	D	0.000000	T	0.08403	0.0209	L	0.58669	1.825	0.45366	D	0.998351	B	0.32467	0.372	B	0.27076	0.076	T	0.06058	-1.0848	10	0.06891	T	0.86	-19.6887	10.9883	0.47534	0.0:0.0739:0.0:0.9261	.	155	Q96NH3	BROMI_HUMAN	S	155	ENSP00000275159:N155S;ENSP00000381270:N155S;ENSP00000397993:N155S	ENSP00000275159:N155S	N	-	2	0	C6orf170	121680371	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.251000	0.65438	0.853000	0.35312	0.533000	0.62120	AAT	TBC1D32	-	NULL	ENSG00000146350		0.328	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2	-	0	134	0	T	NM_152730		121638672	-1	tier1	-	no_errors	ENST00000275159	ensembl	human	putative	74_37	missense	5.00	95	5	SNP	1.000	C	C	121638672	T	C	121638672	3	2	109	1	0	0	0	0	1	0	0	0	2351	1493	52	4	3429	4	C6orf170	6	121638672	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	15908923	121638672	49476395	56	29726											
SCIN	85477	genome.wustl.edu	37	chr7	12680126	12680126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagaaacctggcatctaTcaccagaattgtggaggtaa	13	8	11	9	1	2	2	1	0	1	2	2	4	2	3	3	4	1	2	3	4	4	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:12680126T>C	ENST00000297029.5	+	11	1666	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	SCIN_ENST00000445618.2_Missense_Mutation_p.I275T|SCIN_ENST00000519209.1_Missense_Mutation_p.I275T	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	522	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTGGCATCTATCACCAGAATT	0.438																																																	0													50	49	49					7																	12680126		1889	4110	5999	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1565T>C	7.37:g.12680126T>C	ENSP00000297029:p.Ile522Thr		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.I522T	ENST00000297029.5	37	c.1565	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029770	0.35797	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.42131	0.98;0.98;0.98	4.84	4.84	0.62591	.	0.176364	0.47093	D	0.000250	T	0.51466	0.1676	L	0.27053	0.805	0.30602	N	0.76047	B	0.20988	0.05	P	0.52856	0.711	T	0.59643	-0.7416	10	0.23891	T	0.37	-5.9185	14.4187	0.67168	0.0:0.0:0.0:1.0	.	522	Q9Y6U3	ADSV_HUMAN	T	522;275;275	ENSP00000297029:I522T;ENSP00000430997:I275T;ENSP00000390189:I275T	ENSP00000297029:I522T	I	+	2	0	SCIN	12646651	0.930000	0.31532	0.996000	0.52242	0.916000	0.54674	1.861000	0.39438	1.810000	0.52873	0.459000	0.35465	ATC	SCIN	-	smart_Villin/Gelsolin	ENSG00000006747		0.438	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	-	0	51	0	T	NM_033128		12680126	1	tier1	-	no_errors	ENST00000297029	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.895	C	C	12680126	T	C	12680126	3	2	109	1	0	0	0	0	1	0	0	0	13950	1435	50	4	1607	4	SCIN	7	12680126	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09		12680126	146458537	57	29727											
GPR141	353345	genome.wustl.edu	37	chr7	37780568	37780568	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcatttttgtcatagcCgttgctgtgattctgttggt	6	19	10	6	1	3	1	2	1	1	0	3	1	3	1	1	1	2	3	1	1	2	7	rs189762711		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:37780568C>A	ENST00000447769.1	+	4	862	c.573C>A	c.(571-573)gcC>gcA	p.A191A	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.A191A|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTCATAGCCGTTGCTGTGA	0.408																																																	0													190	172	178					7																	37780568		2203	4300	6503	SO:0001819	synonymous_variant	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"GPCR / Class A : Orphans"	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.573C>A	7.37:g.37780568C>A			A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A191	ENST00000447769.1	37	c.573	CCDS5451.1	7																																																																																			GPR141	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000187037		0.408	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	-	0	101	0	C	NM_181791		37780568	1	tier1	-	no_errors	ENST00000334425	ensembl	human	known	74_37	silent	9.80	92	10	SNP	0.014	A	A	37780568	C	A	37780568	2	1	109	1	0	0	0	0	0	0	0	1	6675	639	23	2		2	GPR141	7	37780568	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	25100442	37780568	121358095	58	29728											
SGCE	8910	genome.wustl.edu	37	chr7	94218011	94218011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcactcacctgtagtctgCtgttggggaatctgagtctg	7	13	12	9	0	4	1	1	1	3	0	4	2	4	2	1	2	2	4	1	2	3	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:94218011C>T	ENST00000265735.7	-	10	1397	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	SGCE_ENST00000445866.2_Silent_p.Q454Q|SGCE_ENST00000447873.1_Silent_p.Q420Q|SGCE_ENST00000437425.2_Silent_p.Q388Q|SGCE_ENST00000428696.2_Silent_p.Q420Q|SGCE_ENST00000415788.2_Silent_p.Q465Q	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	429					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTGTAGTCTGCTGTTGGGGAA	0.308																																																	0													121	120	121					7																	94218011		2203	4300	6503	SO:0001819	synonymous_variant	0			AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1287G>A	7.37:g.94218011C>T			B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Silent	SNP	pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg	p.Q454	ENST00000265735.7	37	c.1362	CCDS5637.1	7																																																																																			SGCE	-	NULL	ENSG00000127990		0.308	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCE	HGNC	protein_coding	OTTHUMT00000255251.2		0	38	0	C			94218011	-1			no_errors	ENST00000445866	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T	T	94218011	C	T	94218011	2	4	109	1	0	0	0	0	0	0	0	1	14247	796	28	3		3	SGCE	7	94218011	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	56437443	94218011	64920652	59	29729											
PLXNA4	91584	genome.wustl.edu	37	chr7	131912288	131912288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attgcccacgaccagcccatCcatctctgacaggtcctcaa	10	8	6	17	1	2	1	1	1	1	0	5	2	4	1	5	1	2	0	5	1	1	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:131912288C>T	ENST00000359827.3	-	7	2766	c.1804G>A	c.(1804-1806)Gat>Aat	p.D602N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D602N			Q9HCM2	PLXA4_HUMAN	plexin A4	602					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACCAGCCCATCCATCTCTGAC	0.607																																																	0													75	78	77					7																	131912288		2088	4220	6308	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1804G>A	7.37:g.131912288C>T	ENSP00000352882:p.Asp602Asn		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.D602N	ENST00000359827.3	37	c.1804	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516019	0.64634	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00912	5.55;5.55	5.73	5.73	0.89815	.	0.636606	0.17646	N	0.166853	T	0.01092	0.0036	N	0.19112	0.55	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.69738	-0.5064	10	0.15499	T	0.54	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	602	Q9HCM2	PLXA4_HUMAN	N	602	ENSP00000323194:D602N;ENSP00000352882:D602N	ENSP00000323194:D602N	D	-	1	0	PLXNA4	131562828	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.796000	0.62496	2.722000	0.93159	0.655000	0.94253	GAT	PLXNA4	-	NULL	ENSG00000221866		0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	-	0	66	0	C	NM_181775		131912288	-1	tier1	-	no_errors	ENST00000321063	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T	T	131912288	C	T	131912288	3	4	109	1	0	0	0	0	1	0	0	0	12161	855	30	3	3984	3	PLXNA4	7	131912288	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	37694277	131912288	27226375	60	29730											
CALD1	800	genome.wustl.edu	37	chr7	134625935	134625935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatttacagaagttaagtcGcagaatggagaattcatgac	15	10	11	5	1	1	4	1	1	0	3	2	6	1	5	0	2	1	2	0	2	5	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr7:134625935G>A	ENST00000361675.2	+	7	1708	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S	CALD1_ENST00000361388.2_Silent_p.S264S|CALD1_ENST00000424922.1_Silent_p.S232S|CALD1_ENST00000422748.1_Silent_p.S264S|CALD1_ENST00000543443.1_Silent_p.S243S|CALD1_ENST00000361901.2_Silent_p.S238S|CALD1_ENST00000417172.1_Silent_p.S238S|CALD1_ENST00000393118.2_Silent_p.S258S|CALD1_ENST00000495522.1_Silent_p.S258S			Q05682	CALD1_HUMAN	caldesmon 1	493					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.S493S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						AAGTTAAGTCGCAGAATGGAG	0.348																																																	1	Substitution - coding silent(1)	large_intestine(1)											84	78	80					7																	134625935		2203	4300	6503	SO:0001819	synonymous_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.1479G>A	7.37:g.134625935G>A			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.S264	ENST00000361675.2	37	c.792	CCDS5835.1	7																																																																																			CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.348	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1		0	34	0	G	NM_033138		134625935	1			no_errors	ENST00000361388	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.058	A	A	134625935	G	A	134625935	2	1	109	1	0	0	0	0	0	0	0	1	2588	1074	38	1		1	CALD1	7	134625935	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	2713647	134625935	24512728	61	29731											
PLAT	5327	genome.wustl.edu	37	chr8	42037508	42037508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcagctgcaggtccgcCgggggaaggcacacagtgcg	7	4	17	13	4	0	0	0	0	0	0	2	1	2	1	3	5	3	4	3	5	1	0	rs188811714		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:42037508C>T	ENST00000220809.4	-	12	1555	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	PLAT_ENST00000352041.3_Silent_p.P387P|PLAT_ENST00000429089.2_Silent_p.P433P|PLAT_ENST00000429710.2_Silent_p.P307P|PLAT_ENST00000519510.1_Silent_p.P370P|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000524009.1_Silent_p.P344P	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	433	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCAGGTCCGCCGGGGGAAGGC	0.642																																																	0													36	26	29					8																	42037508		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.1299G>A	8.37:g.42037508C>T			A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Silent	SNP	pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P433	ENST00000220809.4	37	c.1299	CCDS6126.1	8																																																																																			PLAT	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000104368		0.642	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	-	0	32	0	C	NM_000930		42037508	-1	tier1	-	no_errors	ENST00000220809	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.000	T	T	42037508	C	T	42037508	2	4	109	1	0	0	0	0	0	0	0	1	12060	639	23	1		1	PLAT	8	42037508	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		42037508	104326514	62	29732											
ST18	9705	genome.wustl.edu	37	chr8	53050009	53050009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcatagtttcctgtcaCgtggccacttccatcacatc	9	12	7	13	1	2	1	2	0	0	1	5	1	4	1	3	1	1	2	3	1	1	3	rs369893285		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:53050009C>T	ENST00000276480.7	-	18	2886	c.2203G>A	c.(2203-2205)Gtg>Atg	p.V735M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	735					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTCCTGTCACGTGGCCACTT	0.433																																																	0								C	MET/VAL	0,4406		0,0,2203	171	137	148		2203	5.9	1	8		148	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST18	NM_014682.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	735/1048	53050009	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"Zinc fingers, C2HC-type containing"	18695	protein-coding gene	gene with protein product	"neural zinc finger transcription factor 3"		"zinc finger protein 387", "suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2203G>A	8.37:g.53050009C>T	ENSP00000276480:p.Val735Met		Q17RY1	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.V735M	ENST00000276480.7	37	c.2203	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985525	0.93044	0.0	1.16E-4	ENSG00000147488	ENST00000276480	T	0.56941	0.43	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.74550	0.3731	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73418	-0.3989	10	0.51188	T	0.08	-20.6028	20.3053	0.98627	0.0:1.0:0.0:0.0	.	735	O60284	ST18_HUMAN	M	735	ENSP00000276480:V735M	ENSP00000276480:V735M	V	-	1	0	ST18	53212562	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.677000	0.84024	2.808000	0.96608	0.655000	0.94253	GTG	ST18	-	pfam_Znf_C2HC	ENSG00000147488		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	-	0	72	0	C			53050009	-1	tier1	-	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	20.93	68	18	SNP	1.000	T	T	53050009	C	T	53050009	3	4	109	1	0	0	0	0	1	0	0	0	15259	536	19	1	976	1	ST18	8	53050009	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	11012501	53050009	93314013	63	29733											
PLEC	5339	genome.wustl.edu	37	chr8	145012810	145012810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaccaaccttgatgaggtGcttgttgacccacttggtga	8	11	11	11	0	0	4	0	4	0	0	0	4	0	4	4	2	2	2	4	2	1	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr8:145012810G>T	ENST00000322810.4	-	2	743	c.574C>A	c.(574-576)Cac>Aac	p.H192N	PLEC_ENST00000436759.2_Missense_Mutation_p.H82N|PLEC_ENST00000354958.2_Missense_Mutation_p.H33N|PLEC_ENST00000357649.2_Missense_Mutation_p.H59N|PLEC_ENST00000398774.2_Missense_Mutation_p.H23N|PLEC_ENST00000356346.3_Missense_Mutation_p.H41N|PLEC_ENST00000527096.1_Missense_Mutation_p.H82N|PLEC_ENST00000345136.3_Missense_Mutation_p.H55N|PLEC_ENST00000354589.3_Missense_Mutation_p.H55N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	192	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGATGAGGTGCTTGTTGACC	0.647																																																	0													103	106	105					8																	145012810		2202	4298	6500	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.574C>A	8.37:g.145012810G>T	ENSP00000323856:p.His192Asn		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.H192N	ENST00000322810.4	37	c.574	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	14.78	2.639029	0.47153	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	4.42	3.54	0.40534	Calponin homology domain (5);	0.000000	0.64402	U	0.000009	D	0.96306	0.8795	M	0.83774	2.66	0.48135	D	0.999592	P;P;P;P;P;P;P;P	0.47409	0.872;0.872;0.872;0.895;0.872;0.872;0.872;0.872	P;P;P;P;P;P;P;P	0.61003	0.812;0.812;0.812;0.882;0.812;0.812;0.812;0.812	D	0.95785	0.8820	10	0.87932	D	0	.	8.5255	0.33302	0.1076:0.0:0.8924:0.0	.	82;41;33;192;23;55;59;55	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	55;59;55;23;192;33;41;82;82;82;32;72	ENSP00000344848:H55N;ENSP00000350277:H59N;ENSP00000346602:H55N;ENSP00000381756:H23N;ENSP00000323856:H192N;ENSP00000347044:H33N;ENSP00000348702:H41N;ENSP00000388180:H82N;ENSP00000434583:H82N;ENSP00000437303:H82N;ENSP00000433557:H32N;ENSP00000436702:H72N	ENSP00000323856:H192N	H	-	1	0	PLEC	145084798	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.211000	0.65219	1.080000	0.41073	0.655000	0.94253	CAC	PLEC	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000178209		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0	51	0	G	NM_000445		145012810	-1			no_errors	ENST00000322810	ensembl	human	known	74_37	missense	10.20	44	5	SNP	1.000	T	T	145012810	G	T	145012810	3	4	109	1	0	0	0	0	1	0	0	0	12091	1319	46	3	13604	3	PLEC	8	145012810	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	91962801	145012810	1351212	64	29734											
SH2D3C	10044	genome.wustl.edu	37	chr9	130507210	130507210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgatggtgacggggagGccttgccaagggtgtgggag	7	8	21	5	1	0	3	0	3	0	0	0	5	0	5	2	6	1	0	2	6	1	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr9:130507210G>A	ENST00000314830.8	-	7	1546	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	SH2D3C_ENST00000429553.1_Missense_Mutation_p.A124V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A410V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A321V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.A320V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A318V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	478					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGACGGGGAGGCCTTGCCAAG	0.662																																																	0													72	83	79					9																	130507210		2203	4300	6503	SO:0001583	missense	0			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"SH2 domain containing"	16884	protein-coding gene	gene with protein product		604722	"SH2 domain-containing 3C"			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1433C>T	9.37:g.130507210G>A	ENSP00000317817:p.Ala478Val		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.A478V	ENST00000314830.8	37	c.1433	CCDS6877.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.47|10.47	1.360345|1.360345	0.24598|0.24598	.|.	.|.	ENSG00000095370|ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830|ENST00000440630	T;T;T;T;T;T|.	0.23950|.	2.71;2.69;2.45;2.71;1.88;2.69|.	5.61|5.61	3.74|3.74	0.42951|0.42951	.|.	0.500458|.	0.24700|.	N|.	0.036304|.	T|T	0.45895|0.45895	0.1365|0.1365	L|L	0.51422|0.51422	1.61|1.61	0.31199|0.31199	N|N	0.699992|0.699992	B;P;B;P;B|.	0.45126|.	0.278;0.851;0.001;0.587;0.4|.	B;B;B;B;B|.	0.34180|.	0.034;0.166;0.001;0.177;0.11|.	T|T	0.49762|0.49762	-0.8905|-0.8905	10|5	0.30078|.	T|.	0.28|.	-0.6983|-0.6983	6.8738|6.8738	0.24135|0.24135	0.1518:0.1451:0.7032:0.0|0.1518:0.1451:0.7032:0.0	.|.	318;478;410;321;320|.	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5|.	.;SH2D3_HUMAN;.;.;.|.	V|S	321;320;410;318;124;478|315	ENSP00000362374:A321V;ENSP00000388536:A320V;ENSP00000362373:A410V;ENSP00000362371:A318V;ENSP00000394632:A124V;ENSP00000317817:A478V|.	ENSP00000317817:A478V|.	A|P	-|-	2|1	0|0	SH2D3C|SH2D3C	129547031|129547031	0.998000|0.998000	0.40836|0.40836	0.781000|0.781000	0.31783|0.31783	0.084000|0.084000	0.17831|0.17831	3.303000|3.303000	0.51858|0.51858	0.702000|0.702000	0.31825|0.31825	-0.379000|-0.379000	0.06801|0.06801	GCC|CCT	SH2D3C	-	NULL	ENSG00000095370		0.662	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH2D3C	HGNC	protein_coding	OTTHUMT00000054264.1		0	74	0	G	NM_005489		130507210	-1			no_errors	ENST00000314830	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.789	A	A	130507210	G	A	130507210	3	1	109	1	0	0	0	0	1	0	0	0	14279	1203	42	3	1173	3	SH2D3C	9	130507210	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09		130507210	10706221	65	29735											
SLC25A25	114789	genome.wustl.edu	37	chr9	130868491	130868491	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacgagaggcttgtggcaggGtccttggcaggggccatcgc	6	7	17	11	2	0	1	0	0	0	1	2	2	1	1	2	6	0	3	2	6	0	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr9:130868491G>T	ENST00000373064.5	+	7	1124	c.861G>T	c.(859-861)ggG>ggT	p.G287G	SLC25A25_ENST00000432073.2_Silent_p.G307G|SLC25A25_ENST00000373069.5_Silent_p.G333G|SLC25A25_ENST00000373068.2_Silent_p.G321G|SLC25A25_ENST00000433501.1_Silent_p.G184G|SLC25A25_ENST00000373066.5_Silent_p.G319G|RP11-395P17.11_ENST00000602939.1_RNA	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	287					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTGTGGCAGGGTCCTTGGCAG	0.607																																																	0													139	150	146					9																	130868491		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"Solute carriers", "EF-hand domain containing"	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.861G>T	9.37:g.130868491G>T			Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.G333	ENST00000373064.5	37	c.999	CCDS6890.1	9																																																																																			SLC25A25	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC	ENSG00000148339		0.607	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054407.1	-	0	78	0	G	NM_052901		130868491	1	tier1	-	no_errors	ENST00000373069	ensembl	human	known	74_37	silent	33.33	46	23	SNP	0.996	T	T	130868491	G	T	130868491	2	4	109	1	0	0	0	0	0	0	0	1	14533	1248	44	3		3	SLC25A25	9	130868491	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	361281	130868491	10344940	66	29736											
ANKRD26	22852	genome.wustl.edu	37	chr10	27317825	27317825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaagctcctcaattttgtCcatttgctttttgactgtaa	8	18	6	9	0	1	2	1	2	0	0	3	2	3	2	2	0	2	3	2	0	3	6			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:27317825C>A	ENST00000376087.4	-	27	4093	c.3928G>T	c.(3928-3930)Gac>Tac	p.D1310Y	ANKRD26_ENST00000376070.3_Missense_Mutation_p.D867Y|ANKRD26_ENST00000436985.2_Missense_Mutation_p.D1326Y	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1309					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCAATTTTGTCCATTTGCTTT	0.279																																																	0													111	104	107					10																	27317825		1799	4062	5861	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3928G>T	10.37:g.27317825C>A	ENSP00000365255:p.Asp1310Tyr		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D1326Y	ENST00000376087.4	37	c.3976	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	C	4.052	0.007328	0.07866	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.79845	-1.31;-1.31;-1.31	4.9	-2.62	0.06152	.	1.152450	0.06678	U	0.767436	T	0.60038	0.2238	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33135	0.399;0.277;0.244	B;B;B	0.31686	0.134;0.063;0.034	T	0.52668	-0.8545	10	0.62326	D	0.03	.	1.7318	0.02933	0.1339:0.3494:0.1321:0.3847	.	1310;1309;1326	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	Y	867;1310;1326	ENSP00000365238:D867Y;ENSP00000365255:D1310Y;ENSP00000405112:D1326Y	ENSP00000365238:D867Y	D	-	1	0	ANKRD26	27357831	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.129000	0.15830	-0.308000	0.08792	0.609000	0.83330	GAC	ANKRD26	-	NULL	ENSG00000107890		0.279	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0	29	0	C			27317825	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.000	A	A	27317825	C	A	27317825	3	1	109	1	0	0	0	0	1	0	0	0	654	855	30	3	1236	3	ANKRD26	10	27317825	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		27317825	108216922	67	29737											
TLL2	7093	genome.wustl.edu	37	chr10	98144480	98144480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgtgcagcttggcgtcGggggacaggccgctgcgcac	4	6	17	14	5	0	0	0	0	0	0	1	1	0	1	2	4	4	4	2	4	0	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:98144480G>A	ENST00000357947.3	-	16	2283	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	686	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCTTGGCGTCGGGGGACAGGC	0.627																																																	0													113	109	110					10																	98144480		2203	4300	6503	SO:0001819	synonymous_variant	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2058C>T	10.37:g.98144480G>A			A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom	p.P686	ENST00000357947.3	37	c.2058	CCDS7449.1	10																																																																																			TLL2	-	pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000095587		0.627	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	-	0	47	0	G			98144480	-1	tier1	-	no_errors	ENST00000357947	ensembl	human	known	74_37	silent	15.15	28	5	SNP	0.508	A	A	98144480	G	A	98144480	2	1	109	1	0	0	0	0	0	0	0	1	15993	1103	39	1		1	TLL2	10	98144480	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	70826655	98144480	37390267	68	29738											
ZFYVE27	118813	genome.wustl.edu	37	chr10	99509265	99509265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggcacagtctgcatgCtgtatttgctgccactctgc	5	14	10	12	0	3	0	0	0	3	0	3	0	3	0	1	1	5	5	1	1	1	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:99509265C>T	ENST00000393677.4	+	6	790	c.586C>T	c.(586-588)Ctg>Ttg	p.L196L	ZFYVE27_ENST00000356257.4_Silent_p.L196L|ZFYVE27_ENST00000453958.2_Silent_p.L196L|ZFYVE27_ENST00000337540.7_Silent_p.L164L|ZFYVE27_ENST00000357540.4_Silent_p.L110L|ZFYVE27_ENST00000370610.3_Silent_p.L98L|ZFYVE27_ENST00000359980.3_Silent_p.L196L|ZFYVE27_ENST00000370613.3_Silent_p.L78L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	196					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		AGTCTGCATGCTGTATTTGCT	0.512																																																	0													143	120	128					10																	99509265		2203	4300	6503	SO:0001819	synonymous_variant	0			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"Zinc fingers, FYVE domain containing"	26559	protein-coding gene	gene with protein product	"protrudin"	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.586C>T	10.37:g.99509265C>T			B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Silent	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.L196	ENST00000393677.4	37	c.586	CCDS31263.1	10																																																																																			ZFYVE27	-	NULL	ENSG00000155256		0.512	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	ZFYVE27	HGNC	protein_coding	OTTHUMT00000049745.2	-	0	72	0	C	NM_144588		99509265	1	tier1	-	no_errors	ENST00000356257	ensembl	human	known	74_37	silent	15.09	45	8	SNP	1.000	T	T	99509265	C	T	99509265	2	4	109	1	0	0	0	0	0	0	0	1	17717	796	28	3		3	ZFYVE27	10	99509265	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	1364785	99509265	36025482	69	29739											
DPCD	25911	genome.wustl.edu	37	chr10	103354421	103354421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgtgcatagggagaaGgaaggttcactatttattcc	10	15	11	5	0	1	1	1	0	0	1	2	3	2	2	1	3	1	3	1	3	5	8			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:103354421G>C	ENST00000370151.4	+	2	120	c.71G>C	c.(70-72)aGg>aCg	p.R24T	DPCD_ENST00000370147.1_Missense_Mutation_p.R24T|DPCD_ENST00000470165.1_3'UTR|DPCD_ENST00000370148.2_Missense_Mutation_p.R24T	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	24					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						ATAGGGAGAAGGAAGGTTCAC	0.507																																																	0													202	189	193					10																	103354421		2203	4300	6503	SO:0001583	missense	0				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.71G>C	10.37:g.103354421G>C	ENSP00000359170:p.Arg24Thr		A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Missense_Mutation	SNP	NULL	p.R24T	ENST00000370151.4	37	c.71	CCDS7514.1	10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329630	0.81690	.	.	ENSG00000166171	ENST00000370151;ENST00000370147;ENST00000370148	T;T;T	0.39592	1.07;1.07;1.07	5.62	5.62	0.85841	.	0.044508	0.85682	D	0.000000	T	0.70090	0.3184	M	0.89414	3.03	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.76049	-0.3101	10	0.87932	D	0	-0.2776	18.2197	0.89897	0.0:0.0:1.0:0.0	.	24	Q9BVM2	DPCD_HUMAN	T	24	ENSP00000359170:R24T;ENSP00000359166:R24T;ENSP00000359167:R24T	ENSP00000359166:R24T	R	+	2	0	DPCD	103344411	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	6.854000	0.75440	2.657000	0.90304	0.491000	0.48974	AGG	DPCD	-	NULL	ENSG00000166171		0.507	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPCD	HGNC	protein_coding	OTTHUMT00000049958.2	-	0	110	0	G			103354421	1	tier1	-	no_errors	ENST00000370151	ensembl	human	known	74_37	missense	17.11	63	13	SNP	1.000	C	C	103354421	G	C	103354421	3	2	109	1	0	0	0	0	1	0	0	0	4725	1000	35	5	77	5	DPCD	10	103354421	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	3845156	103354421	32180326	70	29740											
TRIM8	81603	genome.wustl.edu	37	chr10	104404515	104404515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgtgggccaaggacagCggcctcgtacgctgcccaga	8	4	16	13	4	0	1	0	0	0	1	1	3	0	2	3	4	3	2	3	4	2	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:104404515C>T	ENST00000302424.7	+	1	263	c.141C>T	c.(139-141)agC>agT	p.S47S	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	47					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGGACAGCGGCCTCGTAC	0.612																																																	0													36	39	38					10																	104404515		2203	4300	6503	SO:0001819	synonymous_variant	0			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	15579	protein-coding gene	gene with protein product	"glioblastoma expressed ring finger protein"	606125	"ring finger protein 27", "tripartite motif-containing 8"	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.141C>T	10.37:g.104404515C>T			A6NI31|Q9C028	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S47	ENST00000302424.7	37	c.141	CCDS31274.1	10																																																																																			TRIM8	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000171206		0.612	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM8	HGNC	protein_coding	OTTHUMT00000050084.3	-	0	46	0	C	NM_030912		104404515	1	tier1	-	no_errors	ENST00000302424	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.994	T	T	104404515	C	T	104404515	2	4	109	1	0	0	0	0	0	0	0	1	16596	767	27	1		1	TRIM8	10	104404515	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	1050094	104404515	31130232	71	29741											
FGFR2	2263	genome.wustl.edu	37	chr10	123243225	123243225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttacctcattggttgtgAgagtgagaattcgatccaag	10	14	10	7	1	2	2	1	2	1	2	4	5	3	2	2	1	1	1	2	1	3	5			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr10:123243225A>G	ENST00000358487.5	-	17	2560	c.2288T>C	c.(2287-2289)cTc>cCc	p.L763P	FGFR2_ENST00000360144.3_Missense_Mutation_p.L675P|FGFR2_ENST00000457416.2_Missense_Mutation_p.L764P|FGFR2_ENST00000351936.6_Missense_Mutation_p.L761P|FGFR2_ENST00000356226.4_Missense_Mutation_p.L646P|FGFR2_ENST00000369060.4_Missense_Mutation_p.L647P|FGFR2_ENST00000357555.5_Missense_Mutation_p.L674P|FGFR2_ENST00000478859.1_Missense_Mutation_p.L535P|FGFR2_ENST00000369056.1_Missense_Mutation_p.L764P|FGFR2_ENST00000369061.4_Missense_Mutation_p.L651P|FGFR2_ENST00000369059.1_Missense_Mutation_p.L649P|FGFR2_ENST00000346997.2_Missense_Mutation_p.L761P	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	763	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.L763fs*4(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATTGGTTGTGAGAGTGAGAAT	0.488		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome																															Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	1	Deletion - Frameshift(1)	endometrium(1)											148	129	136					10																	123243225		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	3689	protein-coding gene	gene with protein product	"Crouzon syndrome", "Pfeiffer syndrome"	176943	"bacteria-expressed kinase", "keratinocyte growth factor receptor", "craniofacial dysostosis 1", "Jackson-Weiss syndrome"	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2288T>C	10.37:g.123243225A>G	ENSP00000351276:p.Leu763Pro		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L764P	ENST00000358487.5	37	c.2291	CCDS31298.1	10	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607400	0.87157	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058	T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.31;-1.36;-1.31;-1.28;-1.37;-1.28;-1.31;-1.31;-1.31;-1.29;-1.3;-1.3	5.37	5.37	0.77165	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	L	0.35542	1.07	0.80722	D	1	P;P;P;P;P;P;P;P	0.49447	0.552;0.68;0.924;0.849;0.717;0.545;0.89;0.853	B;B;P;P;B;B;B;B	0.47376	0.124;0.345;0.545;0.526;0.258;0.345;0.443;0.443	T	0.81506	-0.0902	10	0.87932	D	0	.	15.6642	0.77213	1.0:0.0:0.0:0.0	.	780;762;674;646;763;675;764;666	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	P	674;764;651;763;646;647;649;761;764;761;675;764;764	ENSP00000350166:L674P;ENSP00000358057:L651P;ENSP00000351276:L763P;ENSP00000348559:L646P;ENSP00000358056:L647P;ENSP00000358055:L649P;ENSP00000263451:L761P;ENSP00000410294:L764P;ENSP00000309878:L761P;ENSP00000353262:L675P;ENSP00000358052:L764P;ENSP00000358054:L764P	ENSP00000263451:L761P	L	-	2	0	FGFR2	123233215	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.198000	0.94994	2.141000	0.66446	0.533000	0.62120	CTC	FGFR2	-	pirsf_FGF_rcpt_fam,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000066468		0.488	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1		0	60	0	A	NM_022976, NM_000141		123243225	-1			no_errors	ENST00000457416	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G	G	123243225	A	G	123243225	3	3	109	1	0	0	0	0	1	0	0	0	5888	304	11	4	289	4	FGFR2	10	123243225	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	18838710	123243225	12291522	72	29742											
TRIM68	55128	genome.wustl.edu	37	chr11	4622317	4622317	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatctgtcttcaactccaGggagattggttctggctgct	7	13	11	10	0	4	1	1	0	3	1	5	2	5	1	1	3	2	4	1	3	2	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:4622317G>C	ENST00000300747.5	-	6	1136	c.847C>G	c.(847-849)Ctg>Gtg	p.L283V		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	283					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCAACTCCAGGGAGATTGGT	0.552																																																	0													127	122	124					11																	4622317		2201	4298	6499	SO:0001583	missense	0			AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"RING-type (C3HC4) zinc fingers", "Tripartite motif containing / Tripartite motif containing"	21161	protein-coding gene	gene with protein product		613184	"ring finger protein 137", "tripartite motif-containing 68"	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.847C>G	11.37:g.4622317G>C	ENSP00000300747:p.Leu283Val		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING	p.L283V	ENST00000300747.5	37	c.847	CCDS31356.1	11	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766169	0.49574	.	.	ENSG00000167333	ENST00000300747;ENST00000526337	T;T	0.04654	3.58;3.58	5.0	-2.94	0.05581	.	0.000000	0.40469	N	0.001084	T	0.03053	0.0090	L	0.35593	1.075	0.27680	N	0.946483	B	0.33345	0.409	B	0.34489	0.184	T	0.41034	-0.9531	10	0.26408	T	0.33	.	5.1927	0.15218	0.5402:0.0:0.3073:0.1525	.	283	Q6AZZ1	TRI68_HUMAN	V	283;60	ENSP00000300747:L283V;ENSP00000434681:L60V	ENSP00000300747:L283V	L	-	1	2	TRIM68	4578893	0.270000	0.24152	0.904000	0.35570	0.763000	0.43281	-0.355000	0.07671	-0.334000	0.08463	-0.224000	0.12420	CTG	TRIM68	-	NULL	ENSG00000167333		0.552	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM68	HGNC	protein_coding	OTTHUMT00000385948.1		0	53	0	G	NM_018073		4622317	-1			no_errors	ENST00000300747	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.950	C	C	4622317	G	C	4622317	3	2	109	1	0	0	0	0	1	0	0	0	16589	991	35	5	618	5	TRIM68	11	4622317	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09		4622317	130384199	73	29743											
NAT10	55226	genome.wustl.edu	37	chr11	34129782	34129782	+	Frame_Shift_Del	DEL	A	A	-																															aatttttcaccatgcatcggAaaaaggtggataaccgaatc																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:34129782delA	ENST00000257829.3	+	2	216	c.10delA	c.(10-12)aaafs	p.K5fs	NAT10_ENST00000531159.2_Intron|NAT10_ENST00000527971.1_Frame_Shift_Del_p.K5fs	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	5						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CATGCATCGGAAAAAGGTGGA	0.433																																																	0													123	125	124					11																	34129782		2202	4298	6500	SO:0001589	frameshift_variant	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"N-acetyltransferase 10"			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.10delA	11.37:g.34129782delA	ENSP00000257829:p.Lys5fs		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Frame_Shift_Del	DEL	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.K5fs	ENST00000257829.3	37	c.10	CCDS7889.1	11																																																																																			NAT10	-	NULL	ENSG00000135372		0.433	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1		0	58	0	A	NM_024662		34129782	1	tier1		no_errors	ENST00000257829	ensembl	human	known	74_37	frame_shift_del	6.82	41	3	DEL	1.000	-	-	34129782	A	-	34129782	7	5	109	1	0	1	0	1	0	0	0	0	10212	247	9	0	12	0	NAT10	11	34129782	Frame_Shift_Del	DEL	A	TCGA-LN-A49X-01A-31D-A27G-09	29507465	34129782	100876734	74	29744											
NUP160	23279	genome.wustl.edu	37	chr11	47814369	47814369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactggctgcacaatccacGcatattctggacgaataagt	13	9	8	11	2	1	0	0	0	1	0	2	2	2	1	1	2	1	3	1	2	4	3	rs369156455		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:47814369G>A	ENST00000378460.2	-	28	3465	c.3419C>T	c.(3418-3420)gCg>gTg	p.A1140V	NUP160_ENST00000530326.1_Missense_Mutation_p.A1026V|NUP160_ENST00000528071.1_Missense_Mutation_p.A1026V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1140					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CACAATCCACGCATATTCTGG	0.463																																																	0								G	VAL/ALA	0,4402		0,0,2201	173	163	167		3419	5.4	0.9	11		167	2,8594	2.2+/-6.3	0,2,4296	no	missense	NUP160	NM_015231.1	64	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1140/1437	47814369	2,12996	2201	4298	6499	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"nucleoporin 160kD"			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3419C>T	11.37:g.47814369G>A	ENSP00000367721:p.Ala1140Val		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.A1140V	ENST00000378460.2	37	c.3419	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.524346	0.96431	0.0	2.33E-4	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.64618	0.47;-0.11;-0.04	5.44	5.44	0.79542	.	0.060757	0.64402	D	0.000004	T	0.75162	0.3812	M	0.82193	2.58	0.80722	D	1	D	0.71674	0.998	P	0.51229	0.663	T	0.79976	-0.1576	10	0.66056	D	0.02	.	18.8821	0.92360	0.0:0.0:1.0:0.0	.	1140	Q12769	NU160_HUMAN	V	1140;1026;1026	ENSP00000367721:A1140V;ENSP00000433590:A1026V;ENSP00000432367:A1026V	ENSP00000367721:A1140V	A	-	2	0	NUP160	47770945	1.000000	0.71417	0.948000	0.38648	0.995000	0.86356	9.434000	0.97515	2.558000	0.86282	0.650000	0.86243	GCG	NUP160	-	NULL	ENSG00000030066		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2		0	20	0	G	NM_015231		47814369	-1			no_errors	ENST00000378460	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A	A	47814369	G	A	47814369	3	1	109	1	0	0	0	0	1	0	0	0	10796	1087	38	1	927	1	NUP160	11	47814369	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	13684587	47814369	87192147	75	29745											
SERPING1	710	genome.wustl.edu	37	chr11	57367850	57367850	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttacccaggtcctgctcGgtaagaccctgcttgaattc	7	12	8	14	1	0	2	0	1	0	1	4	2	2	2	4	2	3	3	4	2	3	4	rs281875170		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:57367850G>A	ENST00000278407.4	+	3	777	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	SERPING1_ENST00000378323.4_Splice_Site_p.G189R|SERPING1_ENST00000403558.1_Splice_Site_p.G218R|SERPING1_ENST00000340687.6_Splice_Site_p.G184R|SERPING1_ENST00000378324.2_Splice_Site_p.G132R	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	184			G -> R (in HAE; dbSNP:rs281875170). {ECO:0000269|PubMed:22994404}.		blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GGTCCTGCTCGGTAAGACCCT	0.522																																																	0			GRCh37	CS053489|CS961498	SERPING1	S							55	53	54					11																	57367850		2192	4286	6478	SO:0001630	splice_region_variant	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"Serine (or cysteine) peptidase inhibitors"	1228	protein-coding gene	gene with protein product	"plasma protease C1 inhibitor", "angioedema, hereditary"	606860	"serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.550+1G>A	11.37:g.57367850G>A			A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G184R	ENST00000278407.4	37	c.550	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657860	0.88154	.	.	ENSG00000149131	ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.79	5.79	0.91817	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.92691	3.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98003	1.0361	10	0.87932	D	0	.	15.5247	0.75894	0.0:0.0:1.0:0.0	.	189;218;184;184	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	R	184;184;189;132;218	ENSP00000278407:G184R;ENSP00000341861:G184R;ENSP00000367574:G189R;ENSP00000367575:G132R;ENSP00000384420:G218R	ENSP00000278407:G184R	G	+	1	0	SERPING1	57124426	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.366000	0.66122	2.750000	0.94351	0.561000	0.74099	GGG	SERPING1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000149131		0.522	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	-	0	73	0	G	NM_000062	Missense_Mutation	57367850	1	tier1	-	no_errors	ENST00000278407	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A	A	57367850	G	A	57367850	5	1	109	1	0	0	0	0	0	0	1	0	14161	1130	39	1	556	1	SERPING1	11	57367850	Splice_Site	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	9553481	57367850	77638666	76	29746											
CABP4	57010	genome.wustl.edu	37	chr11	67225884	67225884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaattacggtggcggagctgCgggaggcggtaccggctctg	6	7	19	9	5	1	0	0	0	1	0	1	3	1	2	1	7	4	3	1	7	3	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:67225884C>T	ENST00000325656.5	+	5	771	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CTC-1337H24.1_ENST00000602912.1_lincRNA|CABP4_ENST00000438189.2_Missense_Mutation_p.R127W	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	232	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCGGAGCTGCGGGAGGCGGT	0.642																																																	0													58	61	60					11																	67225884		2200	4295	6495	SO:0001583	missense	0			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"EF-hand domain containing"	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.694C>T	11.37:g.67225884C>T	ENSP00000324960:p.Arg232Trp		Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.R232W	ENST00000325656.5	37	c.694	CCDS8166.1	11	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363664	0.61513	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	T;T	0.35605	1.3;1.3	4.85	3.91	0.45181	EF-hand-like domain (1);	0.071479	0.56097	D	0.000033	T	0.61540	0.2355	M	0.84433	2.695	0.44711	D	0.997706	D;D	0.89917	1.0;1.0	D;P	0.66847	0.947;0.872	T	0.69584	-0.5106	10	0.87932	D	0	-19.634	13.5633	0.61802	0.1573:0.8427:0.0:0.0	.	232;127	P57796;P57796-2	CABP4_HUMAN;.	W	127;232	ENSP00000401555:R127W;ENSP00000324960:R232W	ENSP00000324960:R232W	R	+	1	2	CABP4	66982460	0.912000	0.30974	0.998000	0.56505	0.421000	0.31385	0.839000	0.27586	1.355000	0.45865	0.655000	0.94253	CGG	CABP4	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000175544		0.642	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP4	HGNC	protein_coding	OTTHUMT00000397624.2	-	0	31	0	C			67225884	1	tier1	-	no_errors	ENST00000325656	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	T	T	67225884	C	T	67225884	3	4	109	1	0	0	0	0	1	0	0	0	2540	759	27	1	712	1	CABP4	11	67225884	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	9858034	67225884	67780632	77	29747											
B3GAT1	27087	genome.wustl.edu	37	chr11	134253770	134253770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctccacgtgcaggtgcGtgtagttgaggccggtgtcg	4	10	17	10	5	1	1	0	1	1	0	3	1	1	1	2	3	2	3	2	3	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr11:134253770G>A	ENST00000524765.1	-	3	4969	c.425C>T	c.(424-426)aCg>aTg	p.T142M	B3GAT1_ENST00000537389.1_Missense_Mutation_p.T155M|B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Missense_Mutation_p.T142M|B3GAT1_ENST00000392580.1_Missense_Mutation_p.T142M			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	142					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTGCAGGTGCGTGTAGTTGAG	0.726																																																	0													30	29	29					11																	134253770		2175	4226	6401	SO:0001583	missense	0			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"CD molecules", "Beta-1,3-glucuronyltransferases"	921	protein-coding gene	gene with protein product	"galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1", "glucuronosyltransferase P"	151290	"CD57 antigen"	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.425C>T	11.37:g.134253770G>A	ENSP00000433847:p.Thr142Met		Q96FS7	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.T155M	ENST00000524765.1	37	c.464	CCDS8500.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.083876	0.97267	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.86159	0.5866	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88509	0.3088	10	0.59425	D	0.04	-24.5871	19.1576	0.93517	0.0:0.0:1.0:0.0	.	155;142	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	M	142;142;142;155	ENSP00000376359:T142M;ENSP00000307875:T142M;ENSP00000433847:T142M;ENSP00000445983:T155M	ENSP00000307875:T142M	T	-	2	0	B3GAT1	133758980	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.822000	0.99363	2.541000	0.85698	0.561000	0.74099	ACG	B3GAT1	-	pfam_Glyco_trans_43	ENSG00000109956		0.726	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	B3GAT1	HGNC	protein_coding	OTTHUMT00000393639.1	-	0	23	0	G	NM_018644		134253770	-1	tier1	-	no_errors	ENST00000537389	ensembl	human	known	74_37	missense	25.00	66	22	SNP	1.000	A	A	134253770	G	A	134253770	3	1	109	1	0	0	0	0	1	0	0	0	1254	1145	40	1	591	1	B3GAT1	11	134253770	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	67027886	134253770	752746	78	29748											
BCDIN3D	144233	genome.wustl.edu	37	chr12	50232768	50232768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccccgtcaggtagggagaGgaagtgtttgtatagagcca	10	10	14	7	1	1	2	1	0	0	2	2	4	2	3	3	3	1	3	3	3	4	5			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:50232768G>T	ENST00000333924.4	-	2	306	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	89	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						GGTAGGGAGAGGAAGTGTTTG	0.473											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													82	79	80					12																	50232768		2203	4300	6503	SO:0001583	missense	0				CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.265C>A	12.37:g.50232768G>T	ENSP00000335201:p.Leu89Ile	968	A8K829	Missense_Mutation	SNP	pfam_Bin3	p.L89I	ENST00000333924.4	37	c.265	CCDS8790.1	12	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057511	0.36277	.	.	ENSG00000186666	ENST00000333924	T	0.48201	0.82	5.41	4.46	0.54185	Bin3-type S-adenosyl-L-methionine binding domain (1);	0.259000	0.40064	N	0.001197	T	0.48519	0.1504	M	0.61703	1.905	0.80722	D	1	P	0.52577	0.954	P	0.47206	0.541	T	0.40997	-0.9533	10	0.33141	T	0.24	.	10.88	0.46933	0.0:0.0:0.7045:0.2955	.	89	Q7Z5W3	BN3D2_HUMAN	I	89	ENSP00000335201:L89I	ENSP00000335201:L89I	L	-	1	0	BCDIN3D	48519035	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	4.976000	0.63785	2.700000	0.92200	0.467000	0.42956	CTC	BCDIN3D	-	NULL	ENSG00000186666		0.473	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCDIN3D	HGNC	protein_coding	OTTHUMT00000405982.1	-	0	31	0	G	NM_181708		50232768	-1	tier1	-	no_errors	ENST00000333924	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.995	T	T	50232768	G	T	50232768	3	4	109	1	0	0	0	0	1	0	0	0	1358	1000	35	3	617	3	BCDIN3D	12	50232768	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09		50232768	83619127	79	29749											
GDF11	10220	genome.wustl.edu	37	chr12	56143474	56143474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaactactgctccggccaGtgcgagtacatgttcatgca	9	9	10	13	2	1	0	1	0	0	0	2	1	2	0	3	1	6	4	3	1	3	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:56143474G>C	ENST00000257868.5	+	3	1069	c.1032G>C	c.(1030-1032)caG>caC	p.Q344H		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	344					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCTCCGGCCAGTGCGAGTACA	0.562																																																	0													159	147	151					12																	56143474		2203	4300	6503	SO:0001583	missense	0			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.1032G>C	12.37:g.56143474G>C	ENSP00000257868:p.Gln344His		Q9UID1|Q9UID2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.Q344H	ENST00000257868.5	37	c.1032	CCDS8891.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.25|10.25	1.298572|1.298572	0.23650|0.23650	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	D|.	0.84223|.	-1.82|.	5.06|5.06	2.26|2.26	0.28386|0.28386	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40473|0.40473	0.1118|0.1118	N|N	0.21194|0.21194	0.64|0.64	0.53005|0.53005	D|D	0.999965|0.999965	B|.	0.31413|.	0.322|.	B|.	0.40329|.	0.326|.	T|T	0.07347|0.07347	-1.0777|-1.0777	10|5	0.87932|.	D|.	0|.	-14.6387|-14.6387	9.12|9.12	0.36782|0.36782	0.2441:0.0:0.7559:0.0|0.2441:0.0:0.7559:0.0	.|.	344|.	O95390|.	GDF11_HUMAN|.	H|T	344|317	ENSP00000257868:Q344H|.	ENSP00000257868:Q344H|.	Q|S	+|+	3|2	2|0	GDF11|GDF11	54429741|54429741	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	0.156000|0.156000	0.16382|0.16382	0.280000|0.280000	0.22209|0.22209	-0.997000|-0.997000	0.02515|0.02515	CAG|AGT	GDF11	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000135414		0.562	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF11	HGNC	protein_coding	OTTHUMT00000407842.3	-	0	49	0	G			56143474	1	tier1	-	no_errors	ENST00000257868	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	C	C	56143474	G	C	56143474	3	2	109	1	0	0	0	0	1	0	0	0	6338	1020	36	5	1042	5	GDF11	12	56143474	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	5910706	56143474	77708421	80	29750											
NUP107	57122	genome.wustl.edu	37	chr12	69114932	69114932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacgagagagcaatttatgCagctttaagtgggaatctta	14	12	10	5	1	1	1	0	0	1	1	1	4	1	2	0	1	4	3	0	1	6	6			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:69114932C>T	ENST00000229179.4	+	15	1618	c.1286C>T	c.(1285-1287)gCa>gTa	p.A429V	NUP107_ENST00000378905.2_Missense_Mutation_p.A278V|NUP107_ENST00000539906.1_Missense_Mutation_p.A400V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	429					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCAATTTATGCAGCTTTAAGT	0.249																																																	0													88	93	91					12																	69114932		2203	4292	6495	SO:0001583	missense	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1286C>T	12.37:g.69114932C>T	ENSP00000229179:p.Ala429Val		B4DZ67|Q6PJE1	Missense_Mutation	SNP	pfam_Nup84_Nup100	p.A429V	ENST00000229179.4	37	c.1286	CCDS8985.1	12	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338590	0.81911	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.53	4.63	0.57726	.	0.046212	0.85682	D	0.000000	T	0.80093	0.4560	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.82444	-0.0454	8	.	.	.	-14.6032	14.9511	0.71074	0.0:0.8574:0.1426:0.0	.	400;278;429	B4DZ67;Q6PJE1;P57740	.;.;NU107_HUMAN	V	429;278;400	.	.	A	+	2	0	NUP107	67401199	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.168000	0.71908	1.449000	0.47699	0.585000	0.79938	GCA	NUP107	-	pfam_Nup84_Nup100	ENSG00000111581		0.249	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1	-	0	26	0	C	NM_020401		69114932	1	tier1	-	no_errors	ENST00000229179	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T	T	69114932	C	T	69114932	3	4	109	1	0	0	0	0	1	0	0	0	10792	710	25	3	1344	3	NUP107	12	69114932	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	12971458	69114932	64736963	81	29751											
C12orf64	283310	genome.wustl.edu	37	chr12	80647261	80647261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaggcctcgtaatggacaAtgggacttgcatctccttgg	9	12	11	9	1	1	0	0	0	1	0	3	2	1	2	2	4	1	2	2	4	3	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:80647261A>G	ENST00000547103.1	+	13	1280	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	OTOGL_ENST00000458043.2_Missense_Mutation_p.N425S			Q3ZCN5	OTOGL_HUMAN	otogelin-like	425	TIL 1.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTAATGGACAATGGGACTTGC	0.333																																																	0													161	149	153					12																	80647261		1829	4076	5905	SO:0001583	missense	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1274A>G	12.37:g.80647261A>G	ENSP00000447211:p.Asn425Ser		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.N425S	ENST00000547103.1	37	c.1274		12	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968602	0.74131	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	D;D	0.90620	-2.7;-2.7	5.71	5.71	0.89125	.	.	.	.	.	D	0.92364	0.7577	L	0.53729	1.69	0.50039	D	0.999848	.	.	.	.	.	.	D	0.92200	0.5767	7	0.48119	T	0.1	.	15.9855	0.80147	1.0:0.0:0.0:0.0	.	.	.	.	S	425	ENSP00000447211:N425S;ENSP00000400895:N425S	ENSP00000400895:N425S	N	+	2	0	OTOGL	79171392	1.000000	0.71417	0.987000	0.45799	0.795000	0.44927	8.254000	0.89844	2.179000	0.69175	0.528000	0.53228	AAT	OTOGL	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000165899		0.333	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0	79	0	A	NM_173591		80647261	1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	G	G	80647261	A	G	80647261	3	3	109	1	0	0	0	0	1	0	0	0	1712	101	4	4	1324	4	C12orf64	12	80647261	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	11532329	80647261	53204634	82	29752											
CMKLR1	1240	genome.wustl.edu	37	chr12	108686064	108686064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccaggaagccacagaGgaagcgggtgacagtcacca	13	3	15	10	1	1	2	1	1	0	1	1	5	1	5	3	4	2	0	3	4	2	0			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:108686064G>A	ENST00000312143.7	-	3	1039	c.676C>T	c.(676-678)Ctc>Ttc	p.L226F	CMKLR1_ENST00000412676.1_Missense_Mutation_p.L226F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.L224F|CMKLR1_ENST00000550402.1_Missense_Mutation_p.L226F|CMKLR1_ENST00000552995.1_Missense_Mutation_p.L224F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	226					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AAGCCACAGAGGAAGCGGGTG	0.592																																																	0													56	60	58					12																	108686064		2138	4248	6386	SO:0001583	missense	0			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"GPCR / Class A : Resolvin receptors"	2121	protein-coding gene	gene with protein product	"resolvin E1 receptor", "chemerin receptor"	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.676C>T	12.37:g.108686064G>A	ENSP00000311733:p.Leu226Phe		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.L226F	ENST00000312143.7	37	c.676	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	12.40	1.926197	0.34002	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.35	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.566997	0.16789	N	0.199447	T	0.67477	0.2897	L	0.46670	1.46	0.29849	N	0.828566	B	0.18610	0.029	B	0.29077	0.098	T	0.64300	-0.6440	10	0.49607	T	0.09	.	7.0095	0.24855	0.1575:0.1435:0.699:0.0	.	226	Q99788	CML1_HUMAN	F	226;226;224;224;226	ENSP00000311733:L226F;ENSP00000401293:L226F;ENSP00000380803:L224F;ENSP00000447579:L224F;ENSP00000449716:L226F	ENSP00000311733:L226F	L	-	1	0	CMKLR1	107210194	0.998000	0.40836	1.000000	0.80357	0.837000	0.47467	0.503000	0.22610	1.268000	0.44264	0.550000	0.68814	CTC	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt	ENSG00000174600		0.592	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	-	0	52	0	G			108686064	-1	tier1	-	no_errors	ENST00000312143	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.990	A	A	108686064	G	A	108686064	3	1	109	1	0	0	0	0	1	0	0	0	3586	1000	35	3	449	3	CMKLR1	12	108686064	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	28038803	108686064	25165831	83	29753											
VPS29	51699	genome.wustl.edu	37	chr12	110930988	110930988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtccatggatcagaccaaTtttgaactgtccaacagtca	13	11	7	10	0	2	2	2	1	0	1	4	3	4	3	3	1	2	0	3	1	3	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:110930988T>C	ENST00000549578.1	-	3	309	c.244A>G	c.(244-246)Att>Gtt	p.I82V	VPS29_ENST00000546588.1_Missense_Mutation_p.I114V|VPS29_ENST00000360579.7_Missense_Mutation_p.I86V|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	82					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCAGACCAATTTTGAACTGT	0.383																																																	0													72	67	68					12																	110930988		1863	4104	5967	SO:0001583	missense	0			AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"vacuolar protein sorting 29 (yeast homolog)", "vacuolar protein sorting 29 (yeast)"			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.244A>G	12.37:g.110930988T>C	ENSP00000447058:p.Ile82Val		Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	tigrfam_Phosphodiesterase_MJ0936	p.I82V	ENST00000549578.1	37	c.244	CCDS41832.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.78|17.78	3.473956|3.473956	0.63737|0.63737	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000549578;ENST00000397678;ENST00000546588|ENST00000360579	T;T|.	0.16073|.	2.37;2.37|.	6.03|6.03	6.03|6.03	0.97812|0.97812	Calcineurin-like phosphoesterase superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.64630|0.64630	1.985|1.985	0.80722|0.80722	D|D	1|1	B;B|.	0.14438|.	0.007;0.01|.	B;B|.	0.20577|.	0.03;0.018|.	T|T	0.71279|0.71279	-0.4640|-0.4640	10|5	0.45353|.	T|.	0.12|.	-5.2352|-5.2352	16.5602|16.5602	0.84551|0.84551	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	82;86|.	Q9UBQ0;Q9UBQ0-2|.	VPS29_HUMAN;.|.	V|S	82;86;114|98	ENSP00000447058:I82V;ENSP00000449044:I114V|.	ENSP00000380795:I86V|.	I|N	-|-	1|2	0|0	VPS29|VPS29	109415371|109415371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.979000|7.979000	0.88103|0.88103	2.313000|2.313000	0.78055|0.78055	0.454000|0.454000	0.30748|0.30748	ATT|AAT	VPS29	-	tigrfam_Phosphodiesterase_MJ0936	ENSG00000111237		0.383	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS29	HGNC	protein_coding	OTTHUMT00000404623.1	-	0	20	0	T			110930988	-1	tier1	-	no_errors	ENST00000549578	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	C	C	110930988	T	C	110930988	3	2	109	1	0	0	0	0	1	0	0	0	17249	1493	52	4	312	4	VPS29	12	110930988	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	2244924	110930988	22920907	84	29754											
RPL6	6128	genome.wustl.edu	37	chr12	112843140	112843140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaatttgtgagtccacaGctttctgatcaatcttgcgc	10	14	8	9	1	3	2	1	2	2	0	4	2	4	2	1	0	2	2	1	0	3	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:112843140G>T	ENST00000424576.2	-	7	940	c.755C>A	c.(754-756)gCt>gAt	p.A252D	RPL6_ENST00000202773.9_Missense_Mutation_p.A252D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	252				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TGAGTCCACAGCTTTCTGATC	0.378																																																	0													22	24	23					12																	112843140		2182	4278	6460	SO:0001583	missense	0			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.755C>A	12.37:g.112843140G>T	ENSP00000403172:p.Ala252Asp		Q2M3Q3|Q8WW97	Missense_Mutation	SNP	pfam_60S_ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.A252D	ENST00000424576.2	37	c.755	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999045	0.54147	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923	T;T	0.32023	1.47;1.47	5.15	4.26	0.50523	.	0.274240	0.41396	D	0.000881	T	0.40448	0.1117	M	0.87328	2.875	0.44098	D	0.996866	B	0.17852	0.024	B	0.24269	0.052	T	0.33369	-0.9871	10	0.39692	T	0.17	.	11.7667	0.51935	0.081:0.0:0.919:0.0	.	252	Q02878	RL6_HUMAN	D	252;252;192	ENSP00000202773:A252D;ENSP00000403172:A252D	ENSP00000202773:A252D	A	-	2	0	RPL6	111327523	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.012000	0.57131	1.179000	0.42884	0.591000	0.81541	GCT	RPL6	-	pfam_60S_ribosomal_L6E	ENSG00000089009		0.378	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1		0	34	0	G			112843140	-1			no_errors	ENST00000202773	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T	T	112843140	G	T	112843140	3	4	109	1	0	0	0	0	1	0	0	0	13643	971	34	3	115	3	RPL6	12	112843140	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	1912152	112843140	21008755	85	29755											
EP400	57634	genome.wustl.edu	37	chr12	132512560	132512560	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcatcactttttgataaAggaggaaaagaccagactct	14	13	7	7	0	3	3	2	1	1	2	3	5	3	5	1	2	0	0	1	2	4	5			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr12:132512560A>G	ENST00000333577.4	+	28	5326		c.e28-1		EP400_ENST00000330386.6_Splice_Site|EP400_ENST00000389561.2_Splice_Site|EP400_ENST00000332482.4_Splice_Site|EP400_ENST00000389562.2_Splice_Site			Q96L91	EP400_HUMAN	E1A binding protein p400						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTTTTGATAAAGGAGGAAAAG	0.453																																																	0													30	33	32					12																	132512560		2203	4300	6503	SO:0001630	splice_region_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5218-1A>G	12.37:g.132512560A>G			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Splice_Site	SNP	-	e27-2	ENST00000333577.4	37	c.5218-2		12	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319461	0.23994	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5828	0.56399	0.8758:0.0:0.0:0.1242	.	.	.	.	.	-1	.	.	.	+	.	.	EP400	131078513	0.998000	0.40836	0.716000	0.30569	0.159000	0.22180	4.823000	0.62694	2.326000	0.78906	0.533000	0.62120	.	EP400	-	-	ENSG00000183495		0.453	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding			0	57	0	A	NM_015409	Intron	132512560	1			no_errors	ENST00000333577	ensembl	human	known	74_37	splice_site	6.98	40	3	SNP	0.963	G	G	132512560	A	G	132512560	5	3	109	1	0	0	0	0	0	0	1	0	5165	86	3	4	5207	4	EP400	12	132512560	Splice_Site	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	19669420	132512560	1339335	86	29756											
RXFP2	122042	genome.wustl.edu	37	chr13	32365960	32365960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagttatttcaaaaactttcGatactgctcctatgctcccc	10	15	4	12	1	1	0	1	0	0	0	4	1	3	0	3	0	4	3	3	0	6	6			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr13:32365960G>A	ENST00000298386.2	+	15	1234	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.R364Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	388					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AAAAACTTTCGATACTGCTCC	0.423																																																	0													154	140	145					13																	32365960		2203	4300	6503	SO:0001583	missense	0			AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"GPCR / Class A : Relaxin family peptide receptors"	17318	protein-coding gene	gene with protein product		606655	"leucine-rich repeat-containing G protein-coupled receptor 8"	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1163G>A	13.37:g.32365960G>A	ENSP00000298386:p.Arg388Gln		B1ALE9|Q3KU23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.R388Q	ENST00000298386.2	37	c.1163	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	G	5.927	0.355019	0.11239	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.04406	4.3;3.63	5.62	4.78	0.61160	.	0.122998	0.56097	D	0.000022	T	0.02929	0.0087	N	0.05574	-0.02	0.46113	D	0.998876	B;B	0.24317	0.101;0.101	B;B	0.19391	0.025;0.015	T	0.54186	-0.8331	10	0.21014	T	0.42	.	12.2907	0.54817	0.082:0.0:0.918:0.0	.	364;388	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Q	364;388	ENSP00000369670:R364Q;ENSP00000298386:R388Q	ENSP00000298386:R388Q	R	+	2	0	RXFP2	31263960	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.473000	0.45145	1.396000	0.46663	-0.136000	0.14681	CGA	RXFP2	-	prints_Relaxin_rcpt	ENSG00000133105		0.423	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	HGNC	protein_coding	OTTHUMT00000044399.1	-	0	79	0	G	NM_130806		32365960	1	tier1	-	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	15.28	61	11	SNP	1.000	A	A	32365960	G	A	32365960	3	1	109	1	0	0	0	0	1	0	0	0	13805	1058	37	1	1221	1	RXFP2	13	32365960	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09		32365960	82803918	87	29757											
FGF14	2259	genome.wustl.edu	37	chr13	102568817	102568817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccttggcgccgcaacCtgcgcttcttgaggccgaag	8	7	12	14	4	1	2	0	1	1	1	1	3	1	2	4	2	2	2	4	2	2	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr13:102568817C>G	ENST00000376143.4	-	1	178	c.179G>C	c.(178-180)aGg>aCg	p.R60T	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	60					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCGCCGCAACCTGCGCTTCTT	0.657																																																	0													45	46	46					13																	102568817		2203	4300	6503	SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.179G>C	13.37:g.102568817C>G	ENSP00000365313:p.Arg60Thr		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.R60T	ENST00000376143.4	37	c.179	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310621	0.23821	.	.	ENSG00000102466	ENST00000376143	T	0.78246	-1.16	5.36	3.61	0.41365	.	.	.	.	.	T	0.68705	0.3030	L	0.33485	1.01	0.31082	N	0.7118	B	0.11235	0.004	B	0.09377	0.004	T	0.63184	-0.6694	9	0.34782	T	0.22	.	14.5165	0.67824	0.2676:0.7324:0.0:0.0	.	60	Q92915	FGF14_HUMAN	T	60	ENSP00000365313:R60T	ENSP00000365313:R60T	R	-	2	0	FGF14	101366818	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	5.523000	0.67099	0.613000	0.30089	-0.311000	0.09066	AGG	FGF14	-	NULL	ENSG00000102466		0.657	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	-	0	64	0	C			102568817	-1	tier1	-	no_errors	ENST00000376143	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	G	G	102568817	C	G	102568817	3	3	109	1	0	0	0	0	1	0	0	0	5865	681	24	5	584	5	FGF14	13	102568817	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	70202857	102568817	12601061	88	29758											
PARP2	10038	genome.wustl.edu	37	chr14	20822982	20822982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagggaagctgacagtgGcacaaatcaaggcaggttac	13	6	13	9	0	1	1	1	1	0	0	1	2	1	2	0	4	3	5	0	4	4	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:20822982G>A	ENST00000250416.5	+	9	844	c.817G>A	c.(817-819)Gca>Aca	p.A273T	PARP2_ENST00000429687.3_Missense_Mutation_p.A260T|PARP2_ENST00000527915.1_Missense_Mutation_p.A273T	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	273	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A273T(1)|p.A224T(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTGACAGTGGCACAAATCAA	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									2	Substitution - Missense(2)	kidney(2)											129	129	129					14																	20822982		1981	4164	6145	SO:0001583	missense	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.817G>A	14.37:g.20822982G>A	ENSP00000250416:p.Ala273Thr		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A273T	ENST00000250416.5	37	c.817	CCDS41910.1	14	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706676	0.68615	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.11604	2.76;2.76;2.76	5.18	4.27	0.50696	Poly(ADP-ribose) polymerase, regulatory domain (4);	0.179769	0.47852	D	0.000215	T	0.08268	0.0206	L	0.33189	0.99	0.47245	D	0.999364	P;P;P	0.42161	0.772;0.562;0.591	B;B;B	0.38194	0.267;0.049;0.158	T	0.33085	-0.9882	10	0.14656	T	0.56	-5.6768	13.1418	0.59438	0.0802:0.0:0.9198:0.0	.	186;260;273	B4DV82;Q9UGN5-2;Q9UGN5	.;.;PARP2_HUMAN	T	260;273;273	ENSP00000392972:A260T;ENSP00000250416:A273T;ENSP00000432283:A273T	ENSP00000250416:A273T	A	+	1	0	PARP2	19892822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.061000	0.64319	2.694000	0.91930	0.655000	0.94253	GCA	PARP2	-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	ENSG00000129484		0.468	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2		0	69	0	G			20822982	1			no_errors	ENST00000250416	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A	A	20822982	G	A	20822982	3	1	109	1	0	0	0	0	1	0	0	0	11500	1203	42	3	851	3	PARP2	14	20822982	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09		20822982	86526558	89	29759											
SUPT16H	11198	genome.wustl.edu	37	chr14	21834640	21834640	+	Frame_Shift_Del	DEL	T	T	-																															tcagcagttctggcttctgcTttttaaccacgtccatgaca																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:21834640delT	ENST00000216297.2	-	8	1342	c.1004delA	c.(1003-1005)aagfs	p.K335fs		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	335					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGGCTTCTGCTTTTTAACCAC	0.373																																																	0													239	214	223					14																	21834640		2203	4300	6503	SO:0001589	frameshift_variant	0			AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"facilitates chromatin remodeling 140 kDa subunit"	605012	"suppressor of Ty (S.cerevisiae) 16 homolog"			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.1004delA	14.37:g.21834640delT	ENSP00000216297:p.Lys335fs		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Frame_Shift_Del	DEL	pfam_FACT_Spt16p,pfam_Pept_M24_structural-domain,pfam_DUF1747,superfamily_Pept_M24_structural-domain	p.K335fs	ENST00000216297.2	37	c.1004	CCDS9569.1	14																																																																																			SUPT16H	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain	ENSG00000092201		0.373	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT16H	HGNC	protein_coding	OTTHUMT00000074025.2		0	25	0	T			21834640	-1	tier1		no_errors	ENST00000216297	ensembl	human	known	74_37	frame_shift_del	6.67	28	2	DEL	1.000	-	-	21834640	T	-	21834640	7	5	109	1	0	1	0	1	0	0	0	0	15443	1609	56	0	2215	0	SUPT16H	14	21834640	Frame_Shift_Del	DEL	T	TCGA-LN-A49X-01A-31D-A27G-09	1011658	21834640	85514900	90	29760											
RALGAPA1	253959	genome.wustl.edu	37	chr14	36244250	36244250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatccaattcctctctttGagacttgtgacctaaaacat	12	13	5	11	0	1	2	0	2	1	1	4	3	3	2	3	0	2	1	3	0	3	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:36244250G>T	ENST00000389698.3	-	3	619	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.Q77K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.Q77K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.Q77K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	77					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTCTCTTTGAGACTTGTGA	0.264																																																	0													34	38	37					14																	36244250		2196	4279	6475	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"tuberin-like protein 1", "GAP-related interacting protein to E12"	608884	"GTPase activating RANGAP domain-like 1", "GTPase activating Rap/RanGAP domain-like 1"	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.229C>A	14.37:g.36244250G>T	ENSP00000374348:p.Gln77Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.Q77K	ENST00000389698.3	37	c.229	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690303	0.88735	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.57	5.57	0.84162	.	0.064000	0.64402	N	0.000005	T	0.80308	0.4599	M	0.79805	2.47	0.58432	D	0.999999	B;D;D;D	0.69078	0.0;0.975;0.997;0.994	B;D;D;D	0.77557	0.002;0.953;0.99;0.965	T	0.80023	-0.1556	10	0.42905	T	0.14	-6.4422	17.7863	0.88539	0.0:0.0:1.0:0.0	.	77;77;77;77	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	77	ENSP00000374348:Q77K;ENSP00000302647:Q77K;ENSP00000258840:Q77K;ENSP00000371803:Q77K;ENSP00000451877:Q77K	ENSP00000258840:Q77K	Q	-	1	0	RALGAPA1	35314001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.015000	0.76387	2.623000	0.88846	0.580000	0.79431	CAA	RALGAPA1	-	NULL	ENSG00000174373		0.264	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	0	91	0	G	XM_210022		36244250	-1	tier1	-	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	T	T	36244250	G	T	36244250	3	4	109	1	0	0	0	0	1	0	0	0	13058	1299	45	3	6186	3	RALGAPA1	14	36244250	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	14409610	36244250	71105290	91	29761											
CLEC14A	161198	genome.wustl.edu	37	chr14	38724771	38724771	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttccagcctgcgggctCgaccccaccggtggcctgga	4	7	12	18	3	0	0	0	0	0	0	3	2	2	1	7	4	2	1	7	4	0	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:38724771C>A	ENST00000342213.2	-	1	803	c.457G>T	c.(457-459)Gag>Tag	p.E153*		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	153	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTGCGGGCTCGACCCCACCG	0.697																																																	0													34	32	33					14																	38724771		2200	4294	6494	SO:0001587	stop_gained	0				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"C-type lectin domain containing"	19832	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 27"	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.457G>T	14.37:g.38724771C>A	ENSP00000353013:p.Glu153*		Q695G9|Q6PWT6|Q8N5V5	Nonsense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.E153*	ENST00000342213.2	37	c.457	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	C	38	6.995565	0.97990	.	.	ENSG00000176435	ENST00000342213	.	.	.	3.91	3.0	0.34707	.	0.689933	0.11938	U	0.514963	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-12.8608	11.3114	0.49366	0.0:0.8146:0.1854:0.0	.	.	.	.	X	153	.	ENSP00000353013:E153X	E	-	1	0	CLEC14A	37794522	0.795000	0.28851	0.501000	0.27601	0.863000	0.49368	1.831000	0.39141	1.210000	0.43336	0.591000	0.81541	GAG	CLEC14A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000176435		0.697	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	-	0	68	0	C	NM_175060		38724771	-1	tier1	-	no_errors	ENST00000342213	ensembl	human	known	74_37	nonsense	11.11	48	6	SNP	0.457	A	A	38724771	C	A	38724771	4	1	109	1	0	0	0	0	0	1	0	0	3506	893	31	2	1019	2	CLEC14A	14	38724771	Nonsense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	2480521	38724771	68624769	92	29762											
PYGL	5836	genome.wustl.edu	37	chr14	51404467	51404467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtacctggtaaatggccTcatcacaggcattttgcaga	12	11	9	9	0	2	1	2	0	0	1	2	1	2	1	2	3	2	4	2	3	4	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:51404467T>C	ENST00000216392.7	-	2	664	c.332A>G	c.(331-333)gAg>gGg	p.E111G	PYGL_ENST00000532462.1_Missense_Mutation_p.E111G|PYGL_ENST00000544180.2_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	111					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GTAAATGGCCTCATCACAGGC	0.398																																																	0													168	155	159					14																	51404467		2203	4300	6503	SO:0001583	missense	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"Glycogen phosphorylases"	9725	protein-coding gene	gene with protein product	"Hers disease", "glycogen storage disease type VI", "glycogen phosphorylase, liver form"	613741	"phosphorylase, glycogen; liver"			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.332A>G	14.37:g.51404467T>C	ENSP00000216392:p.Glu111Gly		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.E111G	ENST00000216392.7	37	c.332	CCDS32080.1	14	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631495	0.87660	.	.	ENSG00000100504	ENST00000532462;ENST00000216392	D;D	0.94723	-3.5;-3.28	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.94810	0.8324	M	0.91354	3.2	0.80722	D	1	P;B	0.36483	0.555;0.386	B;B	0.30782	0.108;0.12	D	0.94596	0.7792	10	0.48119	T	0.1	-10.7054	15.544	0.76081	0.0:0.0:0.0:1.0	.	133;111	Q6P1L4;P06737	.;PYGL_HUMAN	G	111	ENSP00000431657:E111G;ENSP00000216392:E111G	ENSP00000216392:E111G	E	-	2	0	PYGL	50474217	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.915000	0.87484	2.324000	0.78689	0.533000	0.62120	GAG	PYGL	-	pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100504		0.398	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3		0	62	0	T	NM_002863		51404467	-1			no_errors	ENST00000216392	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	C	C	51404467	T	C	51404467	3	2	109	1	0	0	0	0	1	0	0	0	12906	1551	54	4	2287	4	PYGL	14	51404467	Missense_Mutation	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	12679696	51404467	55945073	93	29763											
GALNTL1	57452	genome.wustl.edu	37	chr14	69805402	69805402	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggatgtgtggtggcagTctggagatcgtcccctgcag	5	11	17	8	1	1	1	0	0	1	1	3	3	2	2	2	4	1	2	2	4	0	0			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:69805402T>C	ENST00000337827.4	+	10	1329	c.1002T>C	c.(1000-1002)agT>agC	p.S334S	GALNT16_ENST00000553669.1_Silent_p.S334S|GALNT16_ENST00000448469.3_Silent_p.S334S	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	334	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GTGGTGGCAGTCTGGAGATCG	0.587																																																	0													149	122	131					14																	69805402		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"Glycosyltransferase family 2 domain containing"	23233	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 16"	615132	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1002T>C	14.37:g.69805402T>C			Q4KMG3|Q58A55|Q9ULT9	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S334	ENST00000337827.4	37	c.1002	CCDS32107.1	14																																																																																			GALNT16	-	NULL	ENSG00000100626		0.587	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	HGNC	protein_coding	OTTHUMT00000412434.1	-	0	111	0	T	NM_001168368		69805402	1	tier1	-	no_errors	ENST00000337827	ensembl	human	known	74_37	silent	12.50	84	12	SNP	1.000	C	C	69805402	T	C	69805402	2	2	109	1	0	0	0	0	0	0	0	1	6246	1664	58	4		4	GALNTL1	14	69805402	Silent	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	18400935	69805402	37544138	94	29764											
ASB2	51676	genome.wustl.edu	37	chr14	94401050	94401050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaatcagcctgcctgggagCggcaaggtgtctaggagttt	8	10	14	9	1	2	0	1	0	1	0	2	2	2	2	2	4	3	2	2	4	3	3	rs370537668		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:94401050C>T	ENST00000315988.4	-	8	2204	c.1716G>A	c.(1714-1716)ccG>ccA	p.P572P	ASB2_ENST00000555019.1_Silent_p.P620P	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	572	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.P572P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGCCTGGGAGCGGCAAGGTGT	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)						C	,	0,4406		0,0,2203	105	106	106		1860,1716	-10.3	0.2	14		106	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ASB2	NM_001202429.1,NM_016150.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	620/636,572/588	94401050	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"Ankyrin repeat domain containing"	16012	protein-coding gene	gene with protein product		605759	"ankyrin repeat and SOCS box-containing 2"				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1716G>A	14.37:g.94401050C>T			B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.P572	ENST00000315988.4	37	c.1716	CCDS9915.1	14																																																																																			ASB2	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000100628		0.517	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1		0	51	0	C			94401050	-1			no_errors	ENST00000315988	ensembl	human	known	74_37	silent	5.17	55	3	SNP	0.007	T	T	94401050	C	T	94401050	2	4	109	1	0	0	0	0	0	0	0	1	1024	755	27	1		1	ASB2	14	94401050	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	24595648	94401050	12948490	95	29765											
TRMT61A	115708	genome.wustl.edu	37	chr14	103996454	103996454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgtcctgcggcactcaGttgaccttatcggccgcccc	5	10	11	15	3	1	1	1	1	0	0	3	1	2	1	5	3	1	2	5	3	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr14:103996454G>T	ENST00000389749.4	+	2	246	c.139G>T	c.(139-141)Gtt>Ttt	p.V47F	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	47						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						GCGGCACTCAGTTGACCTTAT	0.662																																																	0													54	60	58					14																	103996454		2200	4295	6495	SO:0001583	missense	0			AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 172"	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.139G>T	14.37:g.103996454G>T	ENSP00000374399:p.Val47Phe		A6NN78|Q8N7Q9	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14	p.V47F	ENST00000389749.4	37	c.139	CCDS41994.1	14	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159058	0.21454	.	.	ENSG00000166166	ENST00000389749;ENST00000299201	T	0.42900	0.96	3.9	3.9	0.45041	.	0.389087	0.23866	N	0.043787	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.32425	0.371	B	0.35182	0.197	T	0.20273	-1.0280	10	0.09590	T	0.72	-26.3928	4.6428	0.12558	0.2886:0.0:0.7114:0.0	.	47	Q96FX7	TRM61_HUMAN	F	47	ENSP00000374399:V47F	ENSP00000299201:V47F	V	+	1	0	TRMT61A	103066207	0.058000	0.20735	0.191000	0.23289	0.968000	0.65278	2.259000	0.43259	2.009000	0.58944	0.462000	0.41574	GTT	TRMT61A	-	pfam_tRNA_MeTrfase_GCD14,pirsf_tRNA_MeTrfase_GCD14	ENSG00000166166		0.662	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61A	HGNC	protein_coding	OTTHUMT00000414988.1	-	0	60	0	G	NM_152307		103996454	1	tier1	-	no_errors	ENST00000389749	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.022	T	T	103996454	G	T	103996454	3	4	109	1	0	0	0	0	1	0	0	0	16617	1029	36	3	141	3	TRMT61A	14	103996454	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	9595404	103996454	3353086	96	29766											
USP8	9101	genome.wustl.edu	37	chr15	50784950	50784950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctttctgcttctcagattCggaacctcaatcctgttttt	6	17	7	11	1	3	1	2	0	2	1	6	2	4	2	2	2	2	3	2	2	2	5	rs78143971	byFrequency	TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr15:50784950C>T	ENST00000396444.3	+	15	2625	c.2287C>T	c.(2287-2289)Cgg>Tgg	p.R763W	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Missense_Mutation_p.R763W|USP8_ENST00000425032.3_Missense_Mutation_p.R657W|USP8_ENST00000307179.4_Missense_Mutation_p.R763W	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	763					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTCAGATTCGGAACCTCAA	0.403																																																	0													133	120	125					15																	50784950		2196	4294	6490	SO:0001583	missense	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2287C>T	15.37:g.50784950C>T	ENSP00000379721:p.Arg763Trp		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.R763W	ENST00000396444.3	37	c.2287	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628030	0.87560	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.21031	2.03;2.03;2.03;2.07	5.22	5.22	0.72569	.	0.556073	0.19308	N	0.117479	T	0.32255	0.0823	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.995;0.999	P;P	0.61477	0.889;0.889	T	0.02320	-1.1177	10	0.56958	D	0.05	-12.0933	15.5388	0.76024	0.1385:0.8615:0.0:0.0	.	657;763	B4DKA8;P40818	.;UBP8_HUMAN	W	763;763;763;657	ENSP00000379721:R763W;ENSP00000405537:R763W;ENSP00000302239:R763W;ENSP00000412682:R657W	ENSP00000302239:R763W	R	+	1	2	USP8	48572242	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.586000	0.53950	2.593000	0.87608	0.650000	0.86243	CGG	USP8	-	NULL	ENSG00000138592		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	-	0	28	0	C	NM_005154		50784950	1	tier1	rs78143971	no_errors	ENST00000307179	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	T	T	50784950	C	T	50784950	3	4	109	1	0	0	0	0	1	0	0	0	17138	875	31	1	2341	1	USP8	15	50784950	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		50784950	51746442	97	29767											
VPS13C	54832	genome.wustl.edu	37	chr15	62232916	62232916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgctgctgctaagtttCgctgtatggacaaaagcatg	11	11	10	9	1	0	0	0	0	0	0	1	1	0	1	1	1	4	7	1	1	4	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr15:62232916C>A	ENST00000261517.5	-	47	5604	c.5531G>T	c.(5530-5532)cGa>cTa	p.R1844L	VPS13C_ENST00000395896.4_Missense_Mutation_p.R1844L|VPS13C_ENST00000249837.3_Missense_Mutation_p.R1801L|VPS13C_ENST00000395898.3_Missense_Mutation_p.R1801L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.R1844Q(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGCTAAGTTTCGCTGTATGGA	0.338																																																	2	Substitution - Missense(2)	lung(2)											127	119	122					15																	62232916		2203	4300	6503	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5531G>T	15.37:g.62232916C>A	ENSP00000261517:p.Arg1844Leu			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.R1844L	ENST00000261517.5	37	c.5531	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374012	0.82573	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.16073	2.37;2.37;2.37	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.998	T	0.60944	-0.7162	10	0.72032	D	0.01	.	18.6183	0.91312	0.0:1.0:0.0:0.0	.	1801;1844;1801;1844	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	1801;1844;1844;1844	ENSP00000249837:R1801L;ENSP00000261517:R1844L;ENSP00000379233:R1844L	ENSP00000249837:R1801L	R	-	2	0	VPS13C	60020208	1.000000	0.71417	0.986000	0.45419	0.488000	0.33401	7.211000	0.77933	2.389000	0.81357	0.455000	0.32223	CGA	VPS13C	-	NULL	ENSG00000129003		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0	31	0	C	NM_017684		62232916	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.994	A	A	62232916	C	A	62232916	3	1	109	1	0	0	0	0	1	0	0	0	17240	884	31	2	5914	2	VPS13C	15	62232916	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	11447966	62232916	40298476	98	29768											
NLRC3	197358	genome.wustl.edu	37	chr16	3592200	3592201	+	RNA	INS	-	-	GG																															gtgcactcacttgatatgctINSggagcctgtggtttccagac																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:3592200_3592201insGG	ENST00000301749.7	-	0	3502_3503				LA16c-390H2.4_ENST00000573820.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATATGCTGGAGCCTGTGG	0.545																																																	0																																												0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"Nucleotide-binding domain and leucine rich repeat containing"	29889	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3", "NOD-like receptor C3"	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3592201_3592202dupGG			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Frame_Shift_Ins	INS	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.Q1079fs	ENST00000301749.7	37	c.3236_3235		16																																																																																			NLRC3	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167984		0.545	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene			0	44	0	-	NM_178844		3592201	-1	tier1		no_errors	ENST00000448023	ensembl	human	known	74_37	frame_shift_ins	5.13	37	2	INS	0.997:1.000	GG	GG	3592201	-	GG	3592200	6	5	109	0	1	1	1	0	0	0	0	0	10507	1580	55	0		0	NLRC3	16	3592200	RNA	INS	-	TCGA-LN-A49X-01A-31D-A27G-09		3592200	86762553	99	29769											
PRKCB	5579	genome.wustl.edu	37	chr16	24183591	24183591	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttgctgtcctcttccagGaccgcctgtactttgtgatg	4	16	10	11	1	1	1	0	1	1	0	3	2	3	2	4	1	2	3	4	1	1	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:24183591G>T	ENST00000321728.7	+	11	1415	c.1240G>T	c.(1240-1242)Gac>Tac	p.D414Y	PRKCB_ENST00000303531.7_Splice_Site_p.D414Y	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	414	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCTCTTCCAGGACCGCCTGTA	0.522																																																	0													108	92	97					16																	24183591		2197	4300	6497	SO:0001630	splice_region_variant	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1240-1G>T	16.37:g.24183591G>T			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.D414Y	ENST00000321728.7	37	c.1240	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747165	0.89663	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.27402	1.67;1.67	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.55418	-0.8144	10	0.87932	D	0	.	18.1787	0.89769	0.0:0.0:1.0:0.0	.	414;414	P05771-2;P05771	.;KPCB_HUMAN	Y	414	ENSP00000318315:D414Y;ENSP00000305355:D414Y	ENSP00000305355:D414Y	D	+	1	0	PRKCB	24091092	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	7.919000	0.87513	2.606000	0.88127	0.557000	0.71058	GAC	PRKCB	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom	ENSG00000166501		0.522	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	100	0	G	NM_212535	Missense_Mutation	24183591	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T	T	24183591	G	T	24183591	5	4	109	1	0	0	0	0	0	0	1	0	12550	1188	41	3	1282	3	PRKCB	16	24183591	Splice_Site	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	20591391	24183591	66171162	100	29770											
SPNS1	83985	genome.wustl.edu	37	chr16	28993282	28993282	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtcacgggctccctGgctctgtgggctccggcatt	2	12	13	14	2	2	0	1	0	1	0	4	0	4	0	3	4	0	4	3	4	0	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:28993282G>T	ENST00000311008.11	+	7	1247	c.870G>T	c.(868-870)ctG>ctT	p.L290L	SPNS1_ENST00000561868.1_Intron|SPNS1_ENST00000565975.1_Silent_p.L335L|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000334536.8_Intron|SPNS1_ENST00000352260.7_Intron|SPNS1_ENST00000323081.8_Silent_p.L217L|RP11-264B17.3_ENST00000569969.1_RNA	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	290					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CGGGCTCCCTGGCTCTGTGGG	0.627											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													139	120	127					16																	28993282		2197	4300	6497	SO:0001819	synonymous_variant	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.870G>T	16.37:g.28993282G>T		806	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L290	ENST00000311008.11	37	c.870	CCDS10646.1	16																																																																																			SPNS1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000169682		0.627	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2		0	117	0	G	NM_032038		28993282	1			no_errors	ENST00000311008	ensembl	human	known	74_37	silent	5.26	90	5	SNP	1.000	T	T	28993282	G	T	28993282	2	4	109	1	0	0	0	0	0	0	0	1	15121	1335	47	3		3	SPNS1	16	28993282	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	4809691	28993282	61361471	101	29771											
PHKG2	5261	genome.wustl.edu	37	chr16	30764831	30764831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatatgcagatccgactttCagatttcgggttctcctgcc	8	13	8	12	2	2	2	1	0	1	2	5	3	3	2	3	1	2	2	3	1	2	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:30764831C>T	ENST00000563588.1	+	6	748	c.509C>T	c.(508-510)tCa>tTa	p.S170L	PHKG2_ENST00000328273.7_Missense_Mutation_p.S170L|RP11-2C24.4_ENST00000483578.1_lincRNA|PHKG2_ENST00000424889.3_Missense_Mutation_p.S170L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ATCCGACTTTCAGATTTCGGG	0.522																																																	0													62	64	63					16																	30764831		2197	4300	6497	SO:0001583	missense	0			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.509C>T	16.37:g.30764831C>T	ENSP00000455607:p.Ser170Leu		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S170L	ENST00000563588.1	37	c.509	CCDS10690.1	16	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908812	0.92107	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.40476	1.03;1.03	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001129	T	0.57519	0.2059	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.73708	0.981;0.967	T	0.59632	-0.7418	10	0.87932	D	0	-7.3659	18.0678	0.89396	0.0:1.0:0.0:0.0	.	170;170	P15735;P15735-2	PHKG2_HUMAN;.	L	170	ENSP00000329968:S170L;ENSP00000388571:S170L	ENSP00000329968:S170L	S	+	2	0	PHKG2	30672332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.550000	0.86006	0.655000	0.94253	TCA	PHKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000156873		0.522	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	-	0	39	0	C	NM_000294		30764831	1	tier1	-	no_errors	ENST00000563588	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	T	T	30764831	C	T	30764831	3	4	109	1	0	0	0	0	1	0	0	0	11886	838	29	3	527	3	PHKG2	16	30764831	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	1771549	30764831	59589922	102	29772											
ITGAD	3681	genome.wustl.edu	37	chr16	31414942	31414942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaaggcctgacgttcaCggccacgggcatcctgacag	10	6	12	13	3	1	3	1	3	0	0	2	3	2	3	3	3	0	2	3	3	1	1	rs199750609		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:31414942C>T	ENST00000389202.2	+	7	729	c.680C>T	c.(679-681)aCg>aTg	p.T227M	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	227	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGACGTTCACGGCCACGGGC	0.602																																																	0													104	84	91					16																	31414942		2197	4300	6497	SO:0001583	missense	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.680C>T	16.37:g.31414942C>T	ENSP00000373854:p.Thr227Met		Q15575|Q15576	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.T227M	ENST00000389202.2	37	c.680	CCDS32438.1	16	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546966	0.65198	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	D	0.86627	-2.15	4.69	3.74	0.42951	von Willebrand factor, type A (3);	.	.	.	.	D	0.94686	0.8286	H	0.94503	3.545	0.31416	N	0.674847	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93223	0.6610	9	0.87932	D	0	.	10.649	0.45636	0.0:0.9062:0.0:0.0938	.	227;243;227	B7Z6V7;Q59H14;Q13349	.;.;ITAD_HUMAN	M	91;243;227	ENSP00000373854:T227M	ENSP00000323325:T91M	T	+	2	0	ITGAD	31322443	0.996000	0.38824	0.066000	0.19879	0.080000	0.17528	5.000000	0.63940	1.198000	0.43158	0.503000	0.49774	ACG	ITGAD	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000156886		0.602	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1		0	41	0	C	NM_005353		31414942	1			no_errors	ENST00000389202	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.672	T	T	31414942	C	T	31414942	3	4	109	1	0	0	0	0	1	0	0	0	7911	536	19	1	706	1	ITGAD	16	31414942	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	650111	31414942	58939811	103	29773											
NOD2	64127	genome.wustl.edu	37	chr16	50756597	50756597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagccttgggtgatcacCagagcttgaggtggctcagg	8	9	15	9	0	2	4	2	3	0	1	2	4	2	4	2	4	2	2	2	4	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:50756597C>A	ENST00000300589.2	+	8	2884	c.2779C>A	c.(2779-2781)Cag>Aag	p.Q927K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	927					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGGTGATCACCAGAGCTTGAG	0.552																																																	0													185	197	193					16																	50756597		2198	4300	6498	SO:0001583	missense	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"Nucleotide-binding domain and leucine rich repeat containing"	5331	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2", "NOD-like receptor C2", "NLR family, CARD domain containing 2"	605956	"caspase recruitment domain family, member 15"	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2779C>A	16.37:g.50756597C>A	ENSP00000300589:p.Gln927Lys		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.Q927K	ENST00000300589.2	37	c.2779	CCDS10746.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.908|7.908	0.735838|0.735838	0.15574|0.15574	.|.	.|.	ENSG00000167207|ENSG00000167207	ENST00000534057|ENST00000526417;ENST00000300589;ENST00000431240	.|T	.|0.51325	.|0.71	5.91|5.91	3.93|3.93	0.45458|0.45458	.|.	.|0.942961	.|0.08943	.|N	.|0.871292	T|T	0.18509|0.18509	0.0444|0.0444	N|N	0.01109|0.01109	-1.01|-1.01	0.26469|0.26469	N|N	0.975317|0.975317	.|B;B	.|0.32128	.|0.014;0.357	.|B;B	.|0.34590	.|0.019;0.186	T|T	0.15321|0.15321	-1.0441|-1.0441	5|10	.|0.02654	.|T	.|1	.|.	9.2639|9.2639	0.37630|0.37630	0.1638:0.6786:0.1576:0.0|0.1638:0.6786:0.1576:0.0	.|.	.|900;927	.|Q9HC29-2;Q9HC29	.|.;NOD2_HUMAN	Q|K	138|900;927;67	.|ENSP00000300589:Q927K	.|ENSP00000300589:Q927K	P|Q	+|+	2|1	0|0	NOD2|NOD2	49314098|49314098	0.774000|0.774000	0.28592|0.28592	0.949000|0.949000	0.38748|0.38748	0.993000|0.993000	0.82548|0.82548	1.135000|1.135000	0.31454|0.31454	0.805000|0.805000	0.34159|0.34159	0.655000|0.655000	0.94253|0.94253	CCA|CAG	NOD2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000167207		0.552	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	-	0	87	0	C	NM_022162		50756597	1	tier1	-	no_errors	ENST00000300589	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.855	A	A	50756597	C	A	50756597	3	1	109	1	0	0	0	0	1	0	0	0	10556	595	21	3	2809	3	NOD2	16	50756597	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	19341655	50756597	39598156	104	29774											
DPEP2	64174	genome.wustl.edu	37	chr16	68023258	68023258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcataatctccaccaatcccGatgaacttggatccaatgac	13	10	5	13	1	2	2	1	2	1	0	5	4	4	3	4	1	1	0	4	1	4	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr16:68023258G>A	ENST00000572888.1	-	8	1688	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	DPEP2_ENST00000412757.2_Silent_p.I346I|DPEP2_ENST00000393847.1_Silent_p.I346I			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	346					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACCAATCCCGATGAACTTGG	0.582																																																	0													149	110	123					16																	68023258		2198	4300	6498	SO:0001819	synonymous_variant	0			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1038C>T	16.37:g.68023258G>A			B2RCF8|Q6UX92|Q8TC95	Silent	SNP	pfam_Peptidase_M19	p.I346	ENST00000572888.1	37	c.1038	CCDS10857.1	16																																																																																			DPEP2	-	pfam_Peptidase_M19	ENSG00000167261		0.582	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	-	0	71	0	G	NM_022355		68023258	-1	tier1	-	no_errors	ENST00000393847	ensembl	human	known	74_37	silent	15.15	56	10	SNP	0.316	A	A	68023258	G	A	68023258	2	1	109	1	0	0	0	0	0	0	0	1	4728	1048	37	1		1	DPEP2	16	68023258	Silent	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	17266661	68023258	22331495	105	29775											
TP53	7157	genome.wustl.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.V157F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)											50	52	51					17																	7578461		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V157F	ENST00000269305.4	37	c.469	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	446	0	C	NM_000546		7578461	-1	tier1	rs121912654	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	29.91	299	128	SNP	0.032	A	A	7578461	C	A	7578461	3	1	109	1	0	0	0	0	1	0	0	0	16429	536	19	2	829	2	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		7578461	73616749	106	29776											
CHD3	1107	genome.wustl.edu	37	chr17	7809966	7809966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggagggactgagtcGccagcaggtgttgacccgca	7	6	15	13	3	0	2	0	2	0	0	2	4	0	4	3	3	1	3	3	3	0	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:7809966G>A	ENST00000330494.7	+	29	4604	c.4454G>A	c.(4453-4455)cGc>cAc	p.R1485H	CHD3_ENST00000380358.4_Missense_Mutation_p.R1544H|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.R1485H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1485					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGACTGAGTCGCCAGCAGGTG	0.547																																																	0													97	94	95					17																	7809966		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"Zinc fingers, PHD-type"	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4454G>A	17.37:g.7809966G>A	ENSP00000332628:p.Arg1485His		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1485H	ENST00000330494.7	37	c.4454	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937418	0.73557	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.91577	-2.87;-2.82;-2.81	4.85	4.85	0.62838	Domain of unknown function DUF1086 (1);	0.000000	0.45126	D	0.000394	D	0.95303	0.8476	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.997;0.998	D	0.95775	0.8812	10	0.87932	D	0	-14.4148	18.1655	0.89724	0.0:0.0:1.0:0.0	.	61;1485;1485;1544	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	H	1544;1485;1485	ENSP00000369716:R1544H;ENSP00000350907:R1485H;ENSP00000332628:R1485H	ENSP00000332628:R1485H	R	+	2	0	CHD3	7750691	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.255000	0.72466	2.515000	0.84797	0.491000	0.48974	CGC	CHD3	-	pfam_DUF1086	ENSG00000170004		0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0	49	0	G	NM_001005273		7809966	1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A	A	7809966	G	A	7809966	3	1	109	1	0	0	0	0	1	0	0	0	3333	1087	38	1	4849	1	CHD3	17	7809966	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	231505	7809966	73385244	107	29777											
PIK3R6	146850	genome.wustl.edu	37	chr17	8733047	8733047	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctcctcaccggtccacaAgtggaaggtgatgtaggggc	8	8	14	11	1	1	1	1	1	0	0	3	2	3	2	3	5	1	2	3	5	3	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:8733047A>T	ENST00000311434.9	-	10	1104	c.865T>A	c.(865-867)Ttg>Atg	p.L289M	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	289					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCGGTCCACAAGTGGAAGGTG	0.572																																																	0													81	94	89					17																	8733047		2099	4176	6275	SO:0001583	missense	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.865T>A	17.37:g.8733047A>T	ENSP00000475670:p.Leu289Met		Q658R3	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.L289M	ENST00000311434.9	37	c.865		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.572	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0	46	0	A	NM_001010855		8733047	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	missense	15.38	44	8	SNP	1.000	T	T	8733047	A	T	8733047	3	4	109	1	0	0	0	0	1	0	0	0	11962	69	3	5	1442	5	PIK3R6	17	8733047	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	923081	8733047	72462163	108	29778											
MYH1	4619	genome.wustl.edu	37	chr17	10406064	10406066	+	In_Frame_Del	DEL	TTG	TTG	-																															gttaggcttacatcatccacTtgttgttcaagtttgatttt																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:10406064_10406066delTTG	ENST00000226207.5	-	24	3194_3196	c.3100_3102delCAA	c.(3100-3102)caadel	p.Q1034del	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1034					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CATCATCCACTTGTTGTTCAAGT	0.394																																																	0																																										SO:0001651	inframe_deletion	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3100_3102delCAA	17.37:g.10406067_10406069delTTG	ENSP00000226207:p.Gln1034del		Q14CA4|Q9Y622	In_Frame_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1034in_frame_del	ENST00000226207.5	37	c.3102_3100	CCDS11155.1	17																																																																																			MYH1	-	NULL	ENSG00000109061		0.394	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1		0	156	0	TTG	NM_005963		10406066	-1			no_errors	ENST00000226207	ensembl	human	known	74_37	in_frame_del	5.30	125	7	DEL	1.000:1.000:1.000	0	-	10406066	TTG	-	10406064	7	5	109	1	0	1	0	1	0	0	0	0	10067	1606	56	0	2785	0	MYH1	17	10406064	In_Frame_Del	DEL	TTG	TCGA-LN-A49X-01A-31D-A27G-09	1673017	10406064	70789146	109	29779											
C17orf39	79018	genome.wustl.edu	37	chr17	17957538	17957538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatgaagatgttgatcGgaaacactgggtgagtaaat	14	10	13	4	1	0	5	0	3	0	2	1	6	0	6	0	2	2	3	0	2	4	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:17957538G>T	ENST00000268719.4	+	3	769	c.596G>T	c.(595-597)cGg>cTg	p.R199L	GID4_ENST00000376345.3_Missense_Mutation_p.R199L	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4	199																	GATGTTGATCGGAAACACTGG	0.453																																																	0													111	104	106					17																	17957538		2203	4300	6503	SO:0001583	missense	0			AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"vacuolar import and degradation 24"		"chromosome 17 open reading frame 39", "GID complex subunit 4, VID24 homolog (S. cerevisiae)"	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.596G>T	17.37:g.17957538G>T	ENSP00000268719:p.Arg199Leu		Q8TEB5|Q9BW50	Missense_Mutation	SNP	pfam_Vacuolar_import/degrad_Vid24	p.R199L	ENST00000268719.4	37	c.596	CCDS11190.1	17	.	.	.	.	.	.	.	.	.	.	G	11.61	1.691380	0.30052	.	.	ENSG00000141034	ENST00000268719;ENST00000376345	.	.	.	6.06	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	N	0.04275	-0.24	0.80722	D	1	P	0.41159	0.74	B	0.36567	0.228	T	0.24977	-1.0145	9	0.02654	T	1	-7.9843	15.7739	0.78193	0.066:0.0:0.934:0.0	.	199	Q8IVV7	CQ039_HUMAN	L	199;116	.	ENSP00000268719:R199L	R	+	2	0	C17orf39	17898263	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.514000	0.67043	2.879000	0.98667	0.650000	0.86243	CGG	GID4	-	pfam_Vacuolar_import/degrad_Vid24	ENSG00000141034		0.453	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID4	HGNC	protein_coding	OTTHUMT00000132071.2		0	78	0	G	NM_024052		17957538	1			no_errors	ENST00000268719	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	17957538	G	T	17957538	3	4	109	1	0	0	0	0	1	0	0	0	1861	1116	39	2	606	2	C17orf39	17	17957538	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	7551474	17957538	63237672	110	29780											
GGNBP2	79893	genome.wustl.edu	37	chr17	34923570	34923570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagtagttttaattgactCgagttgtcttttagaaacac	12	16	8	5	1	1	3	0	2	1	1	2	4	1	3	0	0	1	3	0	0	5	7			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:34923570C>T	ENST00000304718.4	+	6	912	c.596C>T	c.(595-597)tCg>tTg	p.S199L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	199					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTAATTGACTCGAGTTGTCTT	0.393																																																	0													167	156	160					17																	34923570		2203	4300	6503	SO:0001583	missense	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"zinc finger protein 403"	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.596C>T	17.37:g.34923570C>T	ENSP00000307617:p.Ser199Leu		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.S199L	ENST00000304718.4	37	c.596	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443233	0.83993	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	0.104471	0.64402	D	0.000004	T	0.65270	0.2675	L	0.50333	1.59	0.80722	D	1	D;D	0.65815	0.995;0.976	P;B	0.51866	0.682;0.411	T	0.68078	-0.5504	9	0.66056	D	0.02	-13.1107	19.4017	0.94632	0.0:1.0:0.0:0.0	.	199;199	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	L	199	.	ENSP00000307617:S199L	S	+	2	0	GGNBP2	31997683	1.000000	0.71417	0.989000	0.46669	0.916000	0.54674	5.636000	0.67848	2.577000	0.86979	0.558000	0.71614	TCG	GGNBP2	-	NULL	ENSG00000005955		0.393	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0	88	0	C	NM_024835		34923570	1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	13.95	74	12	SNP	0.941	T	T	34923570	C	T	34923570	3	4	109	1	0	0	0	0	1	0	0	0	6385	893	31	1	614	1	GGNBP2	17	34923570	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	16966032	34923570	46271640	111	29781											
GOSR2	9570	genome.wustl.edu	37	chr17	45008544	45008544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattttgtccagcaaggaGccccctaacaaaaggcaaaa	16	6	9	10	0	0	1	0	0	0	1	1	3	1	2	3	2	3	2	3	2	6	3	rs535191147		TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:45008544G>T	ENST00000393456.2	+	3	231	c.174G>T	c.(172-174)gaG>gaT	p.E58D	RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.E58D|GOSR2_ENST00000576910.2_Missense_Mutation_p.E58D|GOSR2_ENST00000439730.2_Missense_Mutation_p.E58D|GOSR2_ENST00000575949.1_Missense_Mutation_p.E58D|GOSR2_ENST00000415811.2_Missense_Mutation_p.E58D|GOSR2_ENST00000225567.4_Missense_Mutation_p.E58D	NM_004287.3	NP_004278.2	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	58					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.E58D(2)		kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			CCAGCAAGGAGCCCCCTAACA	0.468													G|||	1	0.000199681	8e-04	0	5008	,	,		16957	0		0	False		,,,				2504	0																2	Substitution - Missense(2)	liver(2)											67	70	69					17																	45008544		2203	4300	6503	SO:0001583	missense	0			AF007548	CCDS11507.1, CCDS42355.1, CCDS45719.1	17q21	2006-02-10				ENSG00000108433			4431	protein-coding gene	gene with protein product		604027				9349823, 10198168	Standard	XM_005257843		Approved	GS27, Bos1	uc002ikz.3	O14653		ENST00000393456.2:c.174G>T	17.37:g.45008544G>T	ENSP00000377101:p.Glu58Asp		D3DXJ5|D3DXJ6|Q8N4B8|Q96DA5|Q9BZZ4	Missense_Mutation	SNP	superfamily_t-SNARE	p.E58D	ENST00000393456.2	37	c.174	CCDS42355.1	17	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412220	0.62511	.	.	ENSG00000108433	ENST00000225567;ENST00000393456;ENST00000415811;ENST00000439730	T;T;T;T	0.70749	-0.51;-0.46;-0.45;1.97	5.66	0.967	0.19674	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.72894	2.215	0.58432	D	0.999998	P;D;P;D	0.89917	0.927;0.984;0.956;1.0	P;P;P;D	0.87578	0.788;0.669;0.823;0.998	T	0.75178	-0.3409	10	0.34782	T	0.22	-31.5537	10.4444	0.44486	0.3975:0.0:0.6025:0.0	.	58;58;58;58	E7EQ34;O14653;O14653-2;Q8N4B8	.;GOSR2_HUMAN;.;.	D	58	ENSP00000225567:E58D;ENSP00000377101:E58D;ENSP00000394559:E58D;ENSP00000390577:E58D	ENSP00000225567:E58D	E	+	3	2	GOSR2	42363543	0.998000	0.40836	0.999000	0.59377	0.999000	0.98932	0.567000	0.23608	0.093000	0.17368	0.655000	0.94253	GAG	GOSR2	-	superfamily_t-SNARE	ENSG00000108433		0.468	GOSR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GOSR2	HGNC	protein_coding	OTTHUMT00000440438.1		0	26	0	G			45008544	1			no_errors	ENST00000439730	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.997	T	T	45008544	G	T	45008544	3	4	109	1	0	0	0	0	1	0	0	0	6604	962	34	3	184	3	GOSR2	17	45008544	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	10084974	45008544	36186666	112	29782											
KCNH6	81033	genome.wustl.edu	37	chr17	61622991	61622991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccaagctatggagacttgGatgactgtagtccaaagcac	12	8	10	11	0	0	2	0	1	0	1	1	4	1	3	3	2	2	3	3	2	4	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:61622991G>T	ENST00000583023.1	+	14	2724	c.2713G>T	c.(2713-2715)Gat>Tat	p.D905Y	KCNH6_ENST00000456941.2_Missense_Mutation_p.D816Y|KCNH6_ENST00000314672.5_Missense_Mutation_p.D869Y|KCNH6_ENST00000581784.1_Missense_Mutation_p.D816Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	905					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TGGAGACTTGGATGACTGTAG	0.572																																																	0													64	58	60					17																	61622991		2203	4300	6503	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2713G>T	17.37:g.61622991G>T	ENSP00000463533:p.Asp905Tyr		Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.D905Y	ENST00000583023.1	37	c.2713	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859366	0.32884	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99264	-5.65	5.15	0.85	0.18980	.	0.315105	0.22827	N	0.055160	D	0.97579	0.9207	L	0.44542	1.39	0.30102	N	0.807331	P;P;B;P	0.48503	0.681;0.911;0.374;0.859	B;P;B;P	0.46629	0.254;0.521;0.157;0.522	D	0.95563	0.8631	10	0.72032	D	0.01	.	6.7451	0.23456	0.2034:0.0:0.6718:0.1248	.	746;869;816;905	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	Y	905;816	ENSP00000396900:D816Y	ENSP00000318212:D905Y	D	+	1	0	KCNH6	58976723	1.000000	0.71417	0.074000	0.20217	0.002000	0.02628	2.476000	0.45171	0.019000	0.15079	-0.182000	0.12963	GAT	KCNH6	-	NULL	ENSG00000173826		0.572	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	-	0	40	0	G	NM_030779		61622991	1	tier1	-	no_errors	ENST00000583023	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.742	T	T	61622991	G	T	61622991	3	4	109	1	0	0	0	0	1	0	0	0	8063	1174	41	3	2767	3	KCNH6	17	61622991	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	16614447	61622991	19572219	113	29783											
BPTF	2186	genome.wustl.edu	37	chr17	65850067	65850067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatctacaggtaggcgaaaaCcaagagtacatcggcctcgt	13	8	10	10	3	1	1	0	0	1	1	3	2	1	1	2	3	3	2	2	3	7	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:65850067C>G	ENST00000321892.4	+	2	686	c.625C>G	c.(625-627)Cca>Gca	p.P209A	BPTF_ENST00000424123.3_Missense_Mutation_p.P70A|BPTF_ENST00000306378.6_Missense_Mutation_p.P209A|BPTF_ENST00000335221.5_Missense_Mutation_p.P209A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	209					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAGGCGAAAACCAAGAGTACA	0.393																																																	0													106	110	108					17																	65850067		2203	4300	6503	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.625C>G	17.37:g.65850067C>G	ENSP00000315454:p.Pro209Ala		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P209A	ENST00000321892.4	37	c.625		17	.	.	.	.	.	.	.	.	.	.	C	7.766	0.706476	0.15239	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.80653	-1.4;-1.4;-1.4	5.75	3.69	0.42338	.	.	.	.	.	T	0.62600	0.2441	N	0.12182	0.205	0.41646	D	0.989101	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.06405	0.0;0.002;0.002	T	0.57470	-0.7806	9	0.02654	T	1	-2.5457	16.1668	0.81768	0.0:0.7477:0.2523:0.0	.	209;209;209	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	A	114;209;209;209;70	ENSP00000307208:P209A;ENSP00000334351:P209A;ENSP00000315454:P209A	ENSP00000307208:P209A	P	+	1	0	BPTF	63280529	0.823000	0.29233	0.998000	0.56505	0.996000	0.88848	1.601000	0.36773	0.709000	0.31976	0.561000	0.74099	CCA	BPTF	-	NULL	ENSG00000171634		0.393	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding			0	71	0	C	NM_182641, NM_004459		65850067	1			no_errors	ENST00000321892	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.744	G	G	65850067	C	G	65850067	3	3	109	1	0	0	0	0	1	0	0	0	1499	507	18	5	631	5	BPTF	17	65850067	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	4227076	65850067	15345143	114	29784											
RECQL5	9400	genome.wustl.edu	37	chr17	73662528	73662528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttactacagccatggtcGcactctcctgtaaaggcgtc	8	12	8	13	2	1	0	0	0	1	0	4	0	1	0	2	2	3	2	2	2	4	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr17:73662528G>A	ENST00000317905.5	-	2	269	c.110C>T	c.(109-111)gCg>gTg	p.A37V	RECQL5_ENST00000420326.2_Missense_Mutation_p.A37V|RECQL5_ENST00000340830.5_Missense_Mutation_p.A37V|SAP30BP_ENST00000355423.3_5'Flank|RECQL5_ENST00000584999.1_Missense_Mutation_p.A37V|SAP30BP_ENST00000584667.1_5'Flank|RECQL5_ENST00000423245.2_Missense_Mutation_p.A37V	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	37					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCCATGGTCGCACTCTCCTG	0.493								Other identified genes with known or suspected DNA repair function																																									0													113	107	109					17																	73662528		2203	4300	6503	SO:0001583	missense	0			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"RecQ protein 5"	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.110C>T	17.37:g.73662528G>A	ENSP00000317636:p.Ala37Val		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.A37V	ENST00000317905.5	37	c.110	CCDS42380.1	17	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841605	0.51057	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T;T	0.62364	0.03;2.35;2.35;2.35	5.41	4.41	0.53225	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.256644	0.39615	N	0.001307	T	0.69824	0.3154	L	0.39245	1.2	0.80722	D	1	D;D;P	0.76494	0.995;0.999;0.956	P;D;P	0.67900	0.844;0.954;0.666	T	0.68394	-0.5420	10	0.33940	T	0.23	-17.0794	15.5106	0.75779	0.0:0.0:0.8605:0.1395	.	37;37;37	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	V	37	ENSP00000394820:A37V;ENSP00000317636:A37V;ENSP00000414933:A37V;ENSP00000341983:A37V	ENSP00000317636:A37V	A	-	2	0	RECQL5	71174123	1.000000	0.71417	0.943000	0.38184	0.979000	0.70002	5.985000	0.70556	1.355000	0.45865	0.561000	0.74099	GCG	RECQL5	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000108469		0.493	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	RECQL5	HGNC	protein_coding	OTTHUMT00000448207.1	-	0	50	0	G	NM_004259		73662528	-1	tier1	-	no_errors	ENST00000317905	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.990	A	A	73662528	G	A	73662528	3	1	109	1	0	0	0	0	1	0	0	0	13248	1087	38	1	3028	1	RECQL5	17	73662528	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	7812461	73662528	7532682	115	29785											
NPC1	4864	genome.wustl.edu	37	chr18	21125043	21125043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacgatttagttcatcttCaatacttcgttcagcagtga	10	16	6	9	2	5	1	4	1	1	0	6	2	5	1	0	0	2	3	0	0	3	8			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:21125043C>T	ENST00000269228.5	-	12	2382	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	NPC1_ENST00000412552.2_Missense_Mutation_p.E292K|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	610					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGTTCATCTTCAATACTTCGT	0.343																																																	0													110	100	103					18																	21125043		2203	4300	6503	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.1828G>A	18.37:g.21125043C>T	ENSP00000269228:p.Glu610Lys		B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type	p.E610K	ENST00000269228.5	37	c.1828	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	37	6.105660	0.97286	.	.	ENSG00000141458	ENST00000269228;ENST00000412552;ENST00000540608	D;D	0.94457	-3.43;-3.32	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.80422	2.495	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.61201	0.885;0.885	D	0.97121	0.9811	10	0.87932	D	0	-27.3775	20.3928	0.98949	0.0:1.0:0.0:0.0	.	621;610	Q59GR1;O15118	.;NPC1_HUMAN	K	610;292;455	ENSP00000269228:E610K;ENSP00000408606:E292K	ENSP00000269228:E610K	E	-	1	0	NPC1	19379041	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.614000	0.82996	2.813000	0.96785	0.655000	0.94253	GAA	NPC1	-	pfam_Patched,tigrfam_NP_C_type	ENSG00000141458		0.343	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	-	0	51	0	C	NM_000271		21125043	-1	tier1	-	no_errors	ENST00000269228	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T	T	21125043	C	T	21125043	3	4	109	1	0	0	0	0	1	0	0	0	10609	835	29	3	2064	3	NPC1	18	21125043	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		21125043	56952205	116	29786											
DTNA	1837	genome.wustl.edu	37	chr18	32345961	32345961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcatccgactctccacctAcagaacagcatgcaagctta	12	8	6	15	2	1	1	0	0	1	1	4	2	2	1	3	0	5	4	3	0	4	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:32345961A>G	ENST00000399113.3	+	2	104	c.104A>G	c.(103-105)tAc>tGc	p.Y35C	DTNA_ENST00000348997.5_Missense_Mutation_p.Y35C|DTNA_ENST00000444659.1_Missense_Mutation_p.Y35C|DTNA_ENST00000399121.5_Missense_Mutation_p.Y35C|DTNA_ENST00000598774.1_Missense_Mutation_p.Y35C|DTNA_ENST00000315456.6_Missense_Mutation_p.Y35C|DTNA_ENST00000269190.7_Missense_Mutation_p.Y35C|DTNA_ENST00000597599.1_Missense_Mutation_p.Y35C|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000269191.6_Missense_Mutation_p.Y35C|DTNA_ENST00000554864.3_Missense_Mutation_p.Y35C|DTNA_ENST00000283365.9_Missense_Mutation_p.Y35C|DTNA_ENST00000596745.1_Missense_Mutation_p.Y35C|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598334.1_Missense_Mutation_p.Y35C|DTNA_ENST00000598142.1_Missense_Mutation_p.Y35C|DTNA_ENST00000595022.1_Missense_Mutation_p.Y35C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	35	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCTCCACCTACAGAACAGCA	0.403																																																	0													112	92	98					18																	32345961		2203	4300	6503	SO:0001583	missense	0			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"dystrophin-related protein 3"	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.104A>G	18.37:g.32345961A>G	ENSP00000382064:p.Tyr35Cys		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.Y35C	ENST00000399113.3	37	c.104	CCDS59311.1	18	.	.	.	.	.	.	.	.	.	.	A	21.4	4.137421	0.77775	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7;-1.7	4.98	4.98	0.66077	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.92750	0.7695	M	0.93638	3.44	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.996;1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.993;1.0	D	0.94184	0.7434	10	0.87932	D	0	-13.9524	12.4824	0.55852	1.0:0.0:0.0:0.0	.	35;35;35;35;35;35;35;46;35;35;35;35	B4DGS6;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	C	35	ENSP00000283365:Y35C;ENSP00000322519:Y35C;ENSP00000269190:Y35C;ENSP00000336682:Y35C;ENSP00000382072:Y35C;ENSP00000405819:Y35C;ENSP00000269191:Y35C;ENSP00000382064:Y35C	ENSP00000269190:Y35C	Y	+	2	0	DTNA	30599959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.096000	0.89537	1.999000	0.58509	0.455000	0.32223	TAC	DTNA	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin	ENSG00000134769		0.403	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2		0	33	0	A	NM_001390		32345961	1			no_errors	ENST00000269190	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	G	G	32345961	A	G	32345961	3	3	109	1	0	0	0	0	1	0	0	0	4802	391	14	4	110	4	DTNA	18	32345961	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	11220918	32345961	45731287	117	29787											
SERPINB11	89778	genome.wustl.edu	37	chr18	61390626	61390626	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attctgtggcaagcttgcctCtccctaatcagatggggttg	7	13	11	10	0	3	1	1	0	2	1	4	1	3	1	2	3	2	3	2	3	2	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:61390626C>T	ENST00000382749.5	+	0	1417				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AAGCTTGCCTCTCCCTAATCA	0.498																																					Ovarian(27;496 784 5942 8975 23930)												0													125	114	118					18																	61390626		2107	4234	6341			0					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"Serine (or cysteine) peptidase inhibitors"	14221	protein-coding gene	gene with protein product		615682	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11", "serpin peptidase inhibitor, clade B (ovalbumin), member 11"			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390626C>T			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S216F	ENST00000382749.5	37	c.647		18	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923111	0.73213	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;T;D	0.83755	-1.76;2.64;-1.76	5.46	4.57	0.56435	Serpin domain (3);	0.000000	0.56097	D	0.000036	D	0.90841	0.7123	M	0.79805	2.47	0.35551	D	0.803832	D;D;D;D	0.89917	1.0;0.999;0.976;0.998	D;D;P;D	0.77557	0.99;0.969;0.775;0.973	D	0.94400	0.7622	10	0.62326	D	0.03	.	14.8649	0.70406	0.1448:0.8552:0.0:0.0	.	216;189;304;391	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	F	391;189;216	ENSP00000441497:S391F;ENSP00000440795:S189F;ENSP00000441708:S216F	ENSP00000421854:S391F	S	+	2	0	SERPINB11	59541606	1.000000	0.71417	0.987000	0.45799	0.643000	0.38383	4.552000	0.60747	1.390000	0.46547	0.655000	0.94253	TCT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000206072		0.498	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	-	0	22	0	C	NM_080475		61390626	1	tier1	-	no_errors	ENST00000536691	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T	T	61390626	C	T	61390626	1	4	109	0	1	0	0	0	0	0	0	0	14143	913	32	3		3	SERPINB11	18	61390626	RNA	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	29044665	61390626	16686622	118	29788											
CTDP1	9150	genome.wustl.edu	37	chr18	77496418	77496418	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagaggaggcctgaggagCaggaggaggagccccagccc	12	1	18	10	0	0	3	0	1	0	2	0	8	0	8	4	6	3	1	4	6	1	0			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr18:77496418C>T	ENST00000299543.7	+	12	2791	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	CTDP1_ENST00000075430.7_Silent_p.S827S	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	882					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCTGAGGAGCAGGAGGAGGA	0.692																																																	0													30	35	33					18																	77496418		1842	3513	5355	SO:0001587	stop_gained	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"Serine/threonine phosphatases / CTD aspartate-based phosphatases"	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2644C>T	18.37:g.77496418C>T	ENSP00000299543:p.Gln882*		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Nonsense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.Q882*	ENST00000299543.7	37	c.2644	CCDS12017.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.555417	0.96514	.	.	ENSG00000060069	ENST00000299543	.	.	.	3.4	1.5	0.22942	.	0.738721	0.11843	N	0.524072	.	.	.	.	.	.	0.53688	D	0.999975	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-2.3036	5.7952	0.18383	0.0:0.3483:0.5077:0.144	.	.	.	.	X	882	.	ENSP00000299543:Q882X	Q	+	1	0	CTDP1	75597406	1.000000	0.71417	0.004000	0.12327	0.109000	0.19521	0.843000	0.27640	0.094000	0.17404	-0.259000	0.10710	CAG	CTDP1	-	pfam_FCP1_C	ENSG00000060069		0.692	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0	44	0	C	NM_004715		77496418	1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	nonsense	10.53	34	4	SNP	0.864	T	T	77496418	C	T	77496418	4	4	109	1	0	0	0	0	0	1	0	0	4011	711	25	3	2690	3	CTDP1	18	77496418	Nonsense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	16105792	77496418	580830	119	29789											
NOTCH3	4854	genome.wustl.edu	37	chr19	15296491	15296491	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgttacaaaggggccCtggggagtacacaagcaatc	12	6	11	12	1	0	0	0	0	0	0	2	1	1	1	2	4	3	3	2	4	5	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:15296491C>T	ENST00000263388.2	-	13	2027		c.e13-1			NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3						forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAAAGGGGCCCTGGGGAGTAC	0.582																																																	0													64	54	57					19																	15296491		2203	4300	6503	SO:0001630	splice_region_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1952-1G>A	19.37:g.15296491C>T			Q9UEB3|Q9UPL3|Q9Y6L8	Splice_Site	SNP	-	e13-1	ENST00000263388.2	37	c.1952-1	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844935	0.71603	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3238	0.87242	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH3	15157491	1.000000	0.71417	0.997000	0.53966	0.751000	0.42716	7.222000	0.78025	2.388000	0.81334	0.655000	0.94253	.	NOTCH3	-	-	ENSG00000074181		0.582	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	43	0	C	NM_000435	Intron	15296491	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	splice_site	26.67	33	12	SNP	1.000	T	T	15296491	C	T	15296491	5	4	109	1	0	0	0	0	0	0	1	0	10589	695	24	3	5098	3	NOTCH3	19	15296491	Splice_Site	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		15296491	43832492	120	29790											
CCDC124	115098	genome.wustl.edu	37	chr19	18047332	18047332	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaagaagcagaaggagctgGaggatgcctactggaaggac	14	4	15	8	0	0	2	0	0	0	2	0	7	0	7	2	5	4	2	2	5	5	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:18047332G>T	ENST00000597436.1	+	2	210	c.103G>T	c.(103-105)Gag>Tag	p.E35*	CCDC124_ENST00000445755.2_Nonsense_Mutation_p.E35*	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	35					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GAAGGAGCTGGAGGATGCCTA	0.642																																																	0													61	56	58					19																	18047332		2203	4299	6502	SO:0001587	stop_gained	0			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.103G>T	19.37:g.18047332G>T	ENSP00000471455:p.Glu35*			Nonsense_Mutation	SNP	pfam_DUF1014,superfamily_HMG_box_dom	p.E35*	ENST00000597436.1	37	c.103	CCDS12369.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.306217	0.97458	.	.	ENSG00000007080	ENST00000445755	.	.	.	4.52	4.52	0.55395	.	0.055825	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9211	14.8012	0.69916	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000408730:E35X	E	+	1	0	CCDC124	17908332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.395000	0.97266	2.089000	0.63090	0.555000	0.69702	GAG	CCDC124	-	NULL	ENSG00000007080		0.642	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	-	0	27	0	G	NM_138442		18047332	1	tier1	-	no_errors	ENST00000445755	ensembl	human	known	74_37	nonsense	13.79	25	4	SNP	1.000	T	T	18047332	G	T	18047332	4	4	109	1	0	0	0	0	0	1	0	0	2767	1175	41	3	105	3	CCDC124	19	18047332	Nonsense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	2750841	18047332	41081651	121	29791											
GMFG	9535	genome.wustl.edu	37	chr19	39826162	39826162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctacctcgcacaccaccaGggagtcagactgccggaggg	9	5	13	14	2	2	1	1	0	1	1	3	3	2	3	4	3	2	1	4	3	1	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:39826162G>T	ENST00000597595.1	-	2	221	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	GMFG_ENST00000601387.1_Intron|GMFG_ENST00000600322.1_De_novo_Start_InFrame|GMFG_ENST00000598034.1_Missense_Mutation_p.L5M|GMFG_ENST00000595636.1_Missense_Mutation_p.L5M|GMFG_ENST00000594700.1_Missense_Mutation_p.L5M|GMFG_ENST00000602185.1_Intron|GMFG_ENST00000253054.8_De_novo_Start_InFrame	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	5	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACACCACCAGGGAGTCAGAC	0.532																																																	0													99	82	88					19																	39826162		2203	4300	6503	SO:0001583	missense	0			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.13C>A	19.37:g.39826162G>T	ENSP00000472249:p.Leu5Met		Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.L5M	ENST00000597595.1	37	c.13	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231641	0.58777	.	.	ENSG00000130755	ENST00000253054	.	.	.	4.18	1.9	0.25705	Actin-binding, cofilin/tropomyosin type (1);	0.000000	0.47852	D	0.000218	T	0.71022	0.3291	M	0.81942	2.565	0.39669	D	0.970731	D;D	0.71674	0.995;0.998	D;D	0.80764	0.969;0.994	T	0.70644	-0.4815	9	0.41790	T	0.15	-22.6085	7.5918	0.28025	0.2385:0.0:0.7615:0.0	.	5;5	O60234;Q6IB37	GMFG_HUMAN;.	M	5	.	ENSP00000253054:L5M	L	-	1	2	GMFG	44518002	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.286000	0.43496	0.969000	0.38237	-0.258000	0.10820	CTG	GMFG	-	pirsf_GMF-beta	ENSG00000130755		0.532	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	-	0	71	0	G			39826162	-1	tier1	-	no_errors	ENST00000597595	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	T	T	39826162	G	T	39826162	3	4	109	1	0	0	0	0	1	0	0	0	6516	991	35	3	439	3	GMFG	19	39826162	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	21778830	39826162	19302821	122	29792											
ZNF780A	284323	genome.wustl.edu	37	chr19	40580618	40580618	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttctcaccagtatgcaaTttctgatgtcgaataaggtg	10	14	10	7	1	2	1	1	1	2	0	4	2	2	1	1	2	1	3	1	2	4	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:40580618T>C	ENST00000595687.2	-	6	1940	c.1731A>G	c.(1729-1731)aaA>aaG	p.K577K	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000450241.2_Silent_p.K543K|ZNF780A_ENST00000455521.1_Silent_p.K578K|ZNF780A_ENST00000340963.5_Silent_p.K577K|ZNF780A_ENST00000594395.1_Silent_p.K578K	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	577					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388																																																	0													140	140	140					19																	40580618		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1731A>G	19.37:g.40580618T>C			E9PB48|Q6ZN87	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K578	ENST00000595687.2	37	c.1734	CCDS33026.2	19																																																																																			ZNF780A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	-	0	89	0	T	NM_001010880		40580618	-1	tier1	-	no_errors	ENST00000455521	ensembl	human	known	74_37	silent	7.14	78	6	SNP	0.991	C	C	40580618	T	C	40580618	2	2	109	1	0	0	0	0	0	0	0	1	18200	1490	52	4		4	ZNF780A	19	40580618	Silent	SNP	T	TCGA-LN-A49X-01A-31D-A27G-09	754456	40580618	18548365	123	29793											
CCDC106	29903	genome.wustl.edu	37	chr19	56160635	56160635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccacctagacccacaGatcttttacagtctgagccc	10	8	6	17	0	2	3	0	1	2	2	2	3	2	3	5	0	2	1	5	0	2	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:56160635G>T	ENST00000586790.1	+	2	1000	c.96G>T	c.(94-96)caG>caT	p.Q32H	CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q32H|CCDC106_ENST00000308964.3_Missense_Mutation_p.Q32H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Q32H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	32						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGACCCACAGATCTTTTACA	0.582																																																	0													117	115	116					19																	56160635		2203	4300	6503	SO:0001583	missense	0			AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.96G>T	19.37:g.56160635G>T	ENSP00000465757:p.Gln32His		B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	NULL	p.Q32H	ENST00000586790.1	37	c.96	CCDS33118.1	19	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149192	0.37923	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.5	0.996	0.19844	.	0.253075	0.33813	N	0.004531	T	0.33323	0.0859	L	0.32530	0.975	0.80722	D	1	P	0.47191	0.891	P	0.44990	0.466	T	0.04870	-1.0921	9	0.35671	T	0.21	-12.3307	4.7087	0.12861	0.1297:0.2228:0.6476:0.0	.	32	Q9BWC9	CC106_HUMAN	H	32	.	ENSP00000309681:Q32H	Q	+	3	2	CCDC106	60852447	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	0.652000	0.24888	0.790000	0.33803	0.561000	0.74099	CAG	CCDC106	-	NULL	ENSG00000173581		0.582	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CCDC106	HGNC	protein_coding	OTTHUMT00000453593.1	-	0	80	0	G	NM_013301		56160635	1	tier1	-	no_errors	ENST00000308964	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.999	T	T	56160635	G	T	56160635	3	4	109	1	0	0	0	0	1	0	0	0	2748	933	33	3	102	3	CCDC106	19	56160635	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	15580017	56160635	2968348	124	29794											
ZNF582	147948	genome.wustl.edu	37	chr19	56895796	56895796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctgccagtatgaacagtCtgatgttgaatcaactgaga	12	12	9	8	0	2	4	1	4	1	1	3	5	3	4	2	0	3	2	2	0	4	3			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr19:56895796C>T	ENST00000301310.4	-	5	1148	c.990G>A	c.(988-990)caG>caA	p.Q330Q	AC006116.12_ENST00000589671.1_RNA|ZNF582_ENST00000586929.1_Silent_p.Q330Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q330Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TATGAACAGTCTGATGTTGAA	0.383																																					Ovarian(183;1887 2032 4349 30507 51343)												1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											92	91	91					19																	56895796		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.990G>A	19.37:g.56895796C>T			B4DQZ9|B7Z9R3|Q6PJT6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q330	ENST00000301310.4	37	c.990	CCDS33121.1	19																																																																																			ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.383	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2		0	41	0	C	NM_144690		56895796	-1			no_errors	ENST00000301310	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.930	T	T	56895796	C	T	56895796	2	4	109	1	0	0	0	0	0	0	0	1	18062	912	32	3		3	ZNF582	19	56895796	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	735161	56895796	2233187	125	29795											
RALGAPB	57148	genome.wustl.edu	37	chr20	37153456	37153456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcaaggtttgcagataaAtgattatgtgtgccatcctg	12	14	9	6	0	1	2	1	1	0	1	2	2	2	2	2	1	2	2	2	1	5	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:37153456A>G	ENST00000262879.6	+	11	1939	c.1655A>G	c.(1654-1656)aAt>aGt	p.N552S	RALGAPB_ENST00000397038.1_Missense_Mutation_p.N330S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.N552S|RALGAPB_ENST00000397042.3_Missense_Mutation_p.N552S|RALGAPB_ENST00000537204.1_3'UTR			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	552					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTGCAGATAAATGATTATGTG	0.338																																																	0													216	197	203					20																	37153456		2202	4300	6502	SO:0001583	missense	0			AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"KIAA1219"	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1655A>G	20.37:g.37153456A>G	ENSP00000262879:p.Asn552Ser		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.N552S	ENST00000262879.6	37	c.1655	CCDS13305.1	20	.	.	.	.	.	.	.	.	.	.	A	9.653	1.142047	0.21205	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.62639	0.01;0.01	5.4	4.31	0.51392	.	0.239991	0.44285	D	0.000475	T	0.31979	0.0814	N	0.03154	-0.405	0.31191	N	0.70097	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.23547	-1.0185	10	0.17369	T	0.5	.	6.2084	0.20615	0.593:0.3086:0.0983:0.0	.	380;552;552;552	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	S	552;552;552;330;552;380	ENSP00000262879:N552S;ENSP00000380233:N552S	ENSP00000262879:N552S	N	+	2	0	RALGAPB	36586870	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.275000	0.58927	2.035000	0.60131	0.459000	0.35465	AAT	RALGAPB	-	superfamily_ARM-type_fold	ENSG00000170471		0.338	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	RALGAPB	HGNC	protein_coding	OTTHUMT00000079191.1	-	0	141	0	A	NM_020336		37153456	1	tier1	-	no_errors	ENST00000262879	ensembl	human	known	74_37	missense	7.14	104	8	SNP	1.000	G	G	37153456	A	G	37153456	3	3	109	1	0	0	0	0	1	0	0	0	13060	101	4	4	1693	4	RALGAPB	20	37153456	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09		37153456	25872064	126	29796											
TTPAL	79183	genome.wustl.edu	37	chr20	43115335	43115335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccatttctaaaggagaaaAtagcaaacagagtaagtgat	20	8	8	5	0	1	3	0	1	1	2	1	4	1	3	1	1	3	2	1	1	8	4			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:43115335A>G	ENST00000372904.3	+	5	882	c.739A>G	c.(739-741)Ata>Gta	p.I247V	TTPAL_ENST00000262605.4_Missense_Mutation_p.I247V|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	247	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAAGGAGAAAATAGCAAACAG	0.353																																																	0													69	66	67					20																	43115335		2203	4300	6503	SO:0001583	missense	0			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 121"	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.739A>G	20.37:g.43115335A>G	ENSP00000361995:p.Ile247Val		E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.I247V	ENST00000372904.3	37	c.739	CCDS13332.2	20	.	.	.	.	.	.	.	.	.	.	A	17.37	3.373430	0.61624	.	.	ENSG00000124120	ENST00000262605;ENST00000372904;ENST00000456317	T;T;T	0.73897	-0.79;-0.79;-0.79	5.93	5.93	0.95920	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.036072	0.85682	D	0.000000	T	0.77512	0.4141	L	0.49640	1.575	0.80722	D	1	P;B	0.47762	0.9;0.288	P;B	0.49799	0.622;0.196	T	0.79610	-0.1732	10	0.66056	D	0.02	-9.9902	16.3817	0.83467	1.0:0.0:0.0:0.0	.	184;247	B2RA57;Q9BTX7	.;TTPAL_HUMAN	V	247;247;213	ENSP00000262605:I247V;ENSP00000361995:I247V;ENSP00000412720:I213V	ENSP00000262605:I247V	I	+	1	0	TTPAL	42548749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.465000	0.80898	2.276000	0.75962	0.454000	0.30748	ATA	TTPAL	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000124120		0.353	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTPAL	HGNC	protein_coding	OTTHUMT00000106886.2	-	0	27	0	A	NM_024331		43115335	1	tier1	-	no_errors	ENST00000262605	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	G	G	43115335	A	G	43115335	3	3	109	1	0	0	0	0	1	0	0	0	16786	101	4	4	749	4	TTPAL	20	43115335	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09	5961879	43115335	19910185	127	29797											
ZFP64	55734	genome.wustl.edu	37	chr20	50769335	50769335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgggctgcttgctggggtCgatctgaaactggagaacgg	7	8	18	8	3	1	2	0	1	1	1	2	4	1	2	0	6	4	3	0	6	2	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:50769335C>T	ENST00000216923.4	-	6	1745	c.1396G>A	c.(1396-1398)Gac>Aac	p.D466N	ZFP64_ENST00000371515.4_Missense_Mutation_p.D464N|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000346617.4_Missense_Mutation_p.D412N|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGCTGGGGTCGATCTGAAAC	0.602																																																	0													66	50	56					20																	50769335		2203	4300	6503	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"Zinc fingers, C2H2-type"	15940	protein-coding gene	gene with protein product			"zinc finger protein 338", "zinc finger protein 64 homolog (mouse)", "zinc finger protein 64"	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1396G>A	20.37:g.50769335C>T	ENSP00000216923:p.Asp466Asn		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D466N	ENST00000216923.4	37	c.1396	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	3.183	-0.167387	0.06461	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07327	3.2;3.24;3.2	5.48	3.52	0.40303	.	0.437579	0.21259	N	0.077520	T	0.04634	0.0126	N	0.19112	0.55	0.09310	N	1	D;P;P	0.52996	0.957;0.555;0.555	B;B;B	0.35971	0.215;0.033;0.033	T	0.35076	-0.9803	10	0.62326	D	0.03	-10.4056	8.2072	0.31463	0.2801:0.6484:0.0:0.0715	.	412;464;466	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	N	466;412;464;308;619	ENSP00000216923:D466N;ENSP00000344615:D412N;ENSP00000360570:D464N	ENSP00000216923:D466N	D	-	1	0	ZFP64	50202742	0.097000	0.21791	0.001000	0.08648	0.015000	0.08874	1.039000	0.30266	0.658000	0.30925	-0.302000	0.09304	GAC	ZFP64	-	NULL	ENSG00000020256		0.602	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	-	0	21	0	C	NM_018197		50769335	-1	tier1	-	no_errors	ENST00000216923	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.006	T	T	50769335	C	T	50769335	3	4	109	1	0	0	0	0	1	0	0	0	17700	884	31	1	1844	1	ZFP64	20	50769335	Missense_Mutation	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	7654000	50769335	12256185	128	29798											
CHRNA4	1137	genome.wustl.edu	37	chr20	61981585	61981585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtgccgctcgtggcaGggggctccccttctggctcg	1	10	16	14	3	2	0	0	0	2	0	5	0	3	0	3	5	1	4	3	5	0	1			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr20:61981585G>A	ENST00000370263.4	-	5	1399	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	393					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCTCGTGGCAGGGGGCTCCCC	0.682																																																	0													12	14	13					20																	61981585		2194	4282	6476	SO:0001583	missense	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1958	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, alpha 4 (neuronal)"	118504	"cholinergic receptor, nicotinic, alpha polypeptide 4"	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1178C>T	20.37:g.61981585G>A	ENSP00000359285:p.Pro393Leu		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P393L	ENST00000370263.4	37	c.1178	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293320	0.10567	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.85629	-2.01	4.52	-9.04	0.00734	Neurotransmitter-gated ion-channel transmembrane domain (2);	2.366710	0.04154	U	0.321852	T	0.64571	0.2610	N	0.04508	-0.205	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.002;0.009	T	0.54873	-0.8228	10	0.25106	T	0.35	.	9.1305	0.36841	0.0:0.3364:0.4053:0.2583	.	322;393	Q4VAQ5;P43681	.;ACHA4_HUMAN	L	299;393;322	ENSP00000359285:P393L	ENSP00000359280:P299L	P	-	2	0	CHRNA4	61452029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.015000	0.13355	-1.615000	0.01573	-0.175000	0.13238	CCT	CHRNA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000101204		0.682	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3		0	12	0	G			61981585	-1			no_errors	ENST00000370263	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.000	A	A	61981585	G	A	61981585	3	1	109	1	0	0	0	0	1	0	0	0	3392	1000	35	3	713	3	CHRNA4	20	61981585	Missense_Mutation	SNP	G	TCGA-LN-A49X-01A-31D-A27G-09	11212250	61981585	1043935	129	29799											
PITPNB	23760	genome.wustl.edu	37	chr22	28292539	28292539	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgcagagttgaaacttaCattttctaatgttcccaagt	13	14	7	7	0	1	2	0	1	1	1	2	2	2	2	1	0	3	3	1	0	5	6			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr22:28292539C>T	ENST00000335272.5	-	6	449		c.e6+1		PITPNB_ENST00000455418.3_Splice_Site|PITPNB_ENST00000320996.10_Splice_Site	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta						glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						TTGAAACTTACATTTTCTAAT	0.338																																																	0													102	92	95					22																	28292539		2203	4299	6502	SO:0001630	splice_region_variant	0			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.372+1G>A	22.37:g.28292539C>T			B3KYB8|B7Z7Q0|Q8N5W1	Splice_Site	SNP	-	e6+1	ENST00000335272.5	37	c.378+1	CCDS13842.1	22	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589562	0.86851	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000415296;ENST00000436663	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.957	0.92662	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITPNB	26622539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.511000	0.81718	2.824000	0.97209	0.655000	0.94253	.	PITPNB	-	-	ENSG00000180957		0.338	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITPNB	HGNC	protein_coding	OTTHUMT00000320740.1	-	0	20	0	C		Intron	28292539	-1	tier1	-	no_errors	ENST00000455418	ensembl	human	known	74_37	splice_site	26.09	17	6	SNP	1.000	T	T	28292539	C	T	28292539	5	4	109	1	0	0	0	0	0	0	1	0	11987	492	17	3	466	3	PITPNB	22	28292539	Splice_Site	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09		28292539	23012027	130	29800											
ZBED4	9889	genome.wustl.edu	37	chr22	50280738	50280739	+	Frame_Shift_Ins	INS	-	-	C																															acacccactgagaacggtagINSccttggccaatccaggctca																										TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chr22:50280738_50280739insC	ENST00000216268.5	+	2	3905_3906	c.3428_3429insC	c.(3427-3432)agccttfs	p.L1144fs		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1144						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAACGGTAGCCTTGGCCAAT	0.49																																																	0																																										SO:0001589	frameshift_variant	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3430dupC	22.37:g.50280740_50280740dupC	ENSP00000216268:p.Leu1144fs		B2RZH1|Q1ECU0|Q9UGG8	Frame_Shift_Ins	INS	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.L1144fs	ENST00000216268.5	37	c.3428_3429	CCDS33677.1	22																																																																																			ZBED4	-	pfam_HATC_dom_C,superfamily_RNaseH-like_dom	ENSG00000100426		0.49	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2		0	57	0	-	NM_014838		50280739	1	tier1		no_errors	ENST00000216268	ensembl	human	known	74_37	frame_shift_ins	20.00	44	11	INS	0.982:0.998	C	C	50280739	-	C	50280738	7	5	109	1	0	1	1	0	0	0	0	0	17568	971	34	0	3430	0	ZBED4	22	50280738	Frame_Shift_Ins	INS	-	TCGA-LN-A49X-01A-31D-A27G-09	21988199	50280738	1023828	131	29801											
RPA4	29935	genome.wustl.edu	37	chrX	96140055	96140055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccgttgagggccacatctAtcccactgtggatcgggagc	8	8	13	12	2	1	1	0	1	1	0	3	4	2	3	3	3	1	1	3	3	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chrX:96140055A>G	ENST00000373040.3	+	1	1149	c.746A>G	c.(745-747)tAt>tGt	p.Y249C	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	249					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGCCACATCTATCCCACTGTG	0.498								Other identified genes with known or suspected DNA repair function																																									0													90	80	84					X																	96140055		2203	4300	6503	SO:0001583	missense	0			U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"replication protein A4, 34kDa"			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.746A>G	X.37:g.96140055A>G	ENSP00000362131:p.Tyr249Cys		Q3SY03	Missense_Mutation	SNP	pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32	p.Y249C	ENST00000373040.3	37	c.746	CCDS35345.1	X	.	.	.	.	.	.	.	.	.	.	A	15.95	2.983773	0.53827	.	.	ENSG00000204086	ENST00000373040	T	0.74315	-0.83	3.52	2.31	0.28768	Winged helix-turn-helix transcription repressor DNA-binding (1);Replication protein A, C-terminal (1);	.	.	.	.	T	0.66607	0.2806	L	0.58510	1.815	0.09310	N	1	P	0.42908	0.793	B	0.39119	0.291	T	0.59867	-0.7373	9	0.87932	D	0	-24.7545	5.0577	0.14540	0.8606:0.0:0.1394:0.0	.	249	Q13156	RFA4_HUMAN	C	249	ENSP00000362131:Y249C	ENSP00000362131:Y249C	Y	+	2	0	RPA4	96026711	0.979000	0.34478	0.006000	0.13384	0.534000	0.34807	0.799000	0.27028	0.528000	0.28580	0.486000	0.48141	TAT	RPA4	-	pfam_RPA_C,pirsf_RPA32	ENSG00000204086		0.498	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA4	HGNC	protein_coding	OTTHUMT00000057464.1	-	0	23	0	A	NM_013347		96140055	1	tier1	-	no_errors	ENST00000373040	ensembl	human	known	74_37	missense	72.73	3	8	SNP	0.007	G	G	96140055	A	G	96140055	3	3	109	1	0	0	0	0	1	0	0	0	13584	449	16	4	748	4	RPA4	23	96140055	Missense_Mutation	SNP	A	TCGA-LN-A49X-01A-31D-A27G-09		96140055	59130505	132	29802											
IL9R	3581	genome.wustl.edu	37	chrX	155233447	155233447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatctgacaatttcaccatCactttccaccactgcatgtc	10	12	3	16	0	3	1	2	1	1	0	5	1	4	1	4	0	1	1	4	0	1	2			TCGA-LN-A49X-01A-31D-A27G-09	TCGA-LN-A49X-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	07f227f2-7f51-461a-9196-6dd37dceb2c8	06532cf4-0464-427c-b802-8e7b7a5bd0b1	g.chrX:155233447C>T	ENST00000244174.5	+	4	539	c.360C>T	c.(358-360)atC>atT	p.I120I	IL9R_ENST00000540897.1_Missense_Mutation_p.S155L|IL9R_ENST00000369423.2_Missense_Mutation_p.S165L|IL9R_ENST00000424344.3_Silent_p.I99I	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	120					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTCACCATCACTTTCCACC	0.617																																																	0													125	115	118					X																	155233447		2203	4296	6499	SO:0001819	synonymous_variant	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"Pseudoautosomal regions / PAR2", "Interleukins and interleukin receptors", "CD molecules"	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.360C>T	X.37:g.155233447C>T			B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S165L	ENST00000244174.5	37	c.494	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	7.513	0.655002	0.14580	.	.	ENSG00000124334	ENST00000369423;ENST00000540897	T;T	0.31247	1.5;1.5	1.29	1.29	0.21616	.	.	.	.	.	T	0.15046	0.0363	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.21708	0.036	T	0.27640	-1.0068	8	0.17369	T	0.5	-22.3177	5.5447	0.17057	0.0:1.0:0.0:0.0	.	165	B9ZVT0	.	L	165;155	ENSP00000358431:S165L;ENSP00000438112:S155L	ENSP00000358431:S165L	S	+	2	0	IL9R	154886641	0.743000	0.28239	0.821000	0.32701	0.568000	0.35870	0.901000	0.28445	0.932000	0.37266	0.287000	0.19450	TCA	IL9R	-	NULL	ENSG00000124334		0.617	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	-	0	88	0	C	NM_002186		155233447	1	tier1	-	no_errors	ENST00000369423	ensembl	human	known	74_37	missense	25.88	63	22	SNP	0.819	T	T	155233447	C	T	155233447	2	4	109	1	0	0	0	0	0	0	0	1	7735	816	29	3		3	IL9R	23	155233447	Silent	SNP	C	TCGA-LN-A49X-01A-31D-A27G-09	59093392	155233447	37113	133	29803											
PLEKHG5	57449	genome.wustl.edu	37	chr1	6534123	6534123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccacacgctccagggCggggggcccggtcccagctg	4	4	17	16	4	0	0	0	0	0	0	3	0	3	0	4	6	1	2	4	6	0	0	rs527341275	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:6534123C>A	ENST00000400915.3	-	8	775	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S	PLEKHG5_ENST00000377725.1_Missense_Mutation_p.A181S|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.A181S|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.A181S|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.A181S|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.A181S|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.A250S|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.A258S|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.A218S|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.A260S|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.A258S|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.A181S	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	237					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGCTCCAGGGCGGGGGGCCCG	0.687																																																	0													15	17	16					1																	6534123		2198	4298	6496	SO:0001583	missense	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.709G>T	1.37:g.6534123C>A	ENSP00000383706:p.Ala237Ser		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A260S	ENST00000400915.3	37	c.778	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	c	4.707	0.131479	0.08981	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.21;-0.22;-0.22;-0.2;-0.18;-0.19;-0.22;-0.22;-0.2;-0.22;-0.22;-0.22	3.87	-0.639	0.11497	.	0.633028	0.13953	N	0.351363	T	0.47985	0.1475	L	0.38531	1.155	0.09310	N	1	B;B;B;B;B	0.16396	0.017;0.001;0.005;0.009;0.002	B;B;B;B;B	0.17098	0.011;0.01;0.008;0.017;0.008	T	0.25328	-1.0135	10	0.23302	T	0.38	-2.2229	4.4071	0.11414	0.1615:0.5474:0.0:0.2911	.	250;181;258;258;237	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	S	258;181;181;237;258;218;181;181;250;181;87;260;181	ENSP00000366977:A258S;ENSP00000344570:A181S;ENSP00000383704:A181S;ENSP00000383706:A237S;ENSP00000366969:A258S;ENSP00000366961:A218S;ENSP00000366957:A181S;ENSP00000366954:A181S;ENSP00000441445:A250S;ENSP00000366966:A181S;ENSP00000439625:A260S;ENSP00000437710:A181S	ENSP00000344570:A181S	A	-	1	0	PLEKHG5	6456710	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.400000	0.02504	-0.326000	0.08564	0.500000	0.49745	GCC	PLEKHG5	-	NULL	ENSG00000171680		0.687	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	-	0	34	0	C	NM_020631		6534123	-1	tier1	-	no_errors	ENST00000537245	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.097	A	A	6534123	C	A	6534123	3	1	110	1	0	0	0	0	1	0	0	0	12112	768	27	2	2539	2	PLEKHG5	1	6534123	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		6534123	242716498	1	29804											
PTCHD2	57540	genome.wustl.edu	37	chr1	11580782	11580782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttgtccctggtgttcGccagccggctccgccccgcc	2	10	10	19	4	2	0	1	0	1	0	5	0	4	0	7	2	1	2	7	2	0	2	rs527845484		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:11580782G>T	ENST00000294484.6	+	10	2377	c.2239G>T	c.(2239-2241)Gcc>Tcc	p.A747S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A747S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	747					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTGGTGTTCGCCAGCCGGCT	0.667																																																	0													33	38	37					1																	11580782		1940	4138	6078	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2239G>T	1.37:g.11580782G>T	ENSP00000294484:p.Ala747Ser		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL_dom,pfscan_SSD	p.A747S	ENST00000294484.6	37	c.2239	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782371	0.90282	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.90844	-2.74;-2.74	5.77	5.77	0.91146	.	0.097175	0.64402	D	0.000001	D	0.93822	0.8024	L	0.54323	1.7	0.49130	D	0.999757	D	0.69078	0.997	D	0.63877	0.919	D	0.93775	0.7078	10	0.62326	D	0.03	-38.8504	18.9865	0.92773	0.0:0.0:1.0:0.0	.	747	Q9P2K9	PTHD2_HUMAN	S	747	ENSP00000294484:A747S;ENSP00000374226:A747S	ENSP00000294484:A747S	A	+	1	0	PTCHD2	11503369	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.693000	0.74582	2.724000	0.93272	0.561000	0.74099	GCC	PTCHD2	-	pfam_Patched	ENSG00000204624		0.667	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	-	0	22	0	G	XM_052561		11580782	1	tier1	-	no_errors	ENST00000294484	ensembl	human	known	74_37	missense	52.63	9	10	SNP	1.000	T	T	11580782	G	T	11580782	3	4	110	1	0	0	0	0	1	0	0	0	12775	1087	38	2	2273	2	PTCHD2	1	11580782	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	5046659	11580782	237669839	2	29805											
CSF3R	1441	genome.wustl.edu	37	chr1	36937913	36937913	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggggccagcggatgcagCgtatctgcagggtgtaggcc	7	6	18	10	2	1	0	0	0	1	0	1	1	1	1	2	5	4	5	2	5	2	2	rs148747030		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:36937913C>G	ENST00000373106.1	-	8	1470	c.923G>C	c.(922-924)cGc>cCc	p.R308P	CSF3R_ENST00000418048.2_Missense_Mutation_p.R308P|CSF3R_ENST00000373104.1_Missense_Mutation_p.R308P|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.R308P|CSF3R_ENST00000440588.2_Missense_Mutation_p.R308P|CSF3R_ENST00000331941.5_Missense_Mutation_p.R308P|CSF3R_ENST00000373103.1_Missense_Mutation_p.R308P|CSF3R_ENST00000338937.5_Missense_Mutation_p.R308P	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	308	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCGGATGCAGCGTATCTGCAG	0.667																																																	0													47	55	52					1																	36937913		2203	4300	6503	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.923G>C	1.37:g.36937913C>G	ENSP00000362198:p.Arg308Pro			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R308P	ENST00000373106.1	37	c.923	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183077	0.57800	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	4.88	3.96	0.45880	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	M	0.81341	2.54	0.47065	D	0.999304	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.992;0.997;0.992;0.999	T	0.79205	-0.1899	10	0.87932	D	0	-27.3117	12.7007	0.57032	0.0:0.682:0.318:0.0	.	308;308;308;308	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	P	308	ENSP00000362198:R308P;ENSP00000362196:R308P;ENSP00000362195:R308P;ENSP00000355406:R308P;ENSP00000332180:R308P;ENSP00000401588:R308P;ENSP00000345013:R308P;ENSP00000397568:R308P	ENSP00000332180:R308P	R	-	2	0	CSF3R	36710500	0.995000	0.38212	1.000000	0.80357	0.702000	0.40608	3.029000	0.49712	1.260000	0.44134	-0.175000	0.13238	CGC	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000119535		0.667	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0	78	0	C	NM_156039		36937913	-1	tier1	-	no_errors	ENST00000373103	ensembl	human	known	74_37	missense	47.44	41	37	SNP	0.998	G	G	36937913	C	G	36937913	3	3	110	1	0	0	0	0	1	0	0	0	3946	768	27	5	1817	5	CSF3R	1	36937913	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	25357131	36937913	212312708	3	29806											
SLC6A9	6536	genome.wustl.edu	37	chr1	44476525	44476525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtttgaggttctggtccctCttggtggcctcgctgggcac	2	13	14	12	2	2	1	0	1	2	0	4	1	3	1	2	5	0	4	2	5	0	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:44476525C>T	ENST00000360584.2	-	3	470	c.279G>A	c.(277-279)aaG>aaA	p.K93K	SLC6A9_ENST00000372306.3_Silent_p.K20K|SLC6A9_ENST00000372310.3_Silent_p.K20K|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000357730.2_Silent_p.K39K|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000475075.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	93					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCTGGTCCCTCTTGGTGGCCT	0.612																																																	0													187	152	164					1																	44476525		2203	4300	6503	SO:0001819	synonymous_variant	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.279G>A	1.37:g.44476525C>T			A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.K93	ENST00000360584.2	37	c.279	CCDS41317.1	1																																																																																			SLC6A9	-	prints_Na/ntran_symport_glycine_GLY1	ENSG00000196517		0.612	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	-	0	62	0	C	NM_201649		44476525	-1	tier1	-	no_errors	ENST00000360584	ensembl	human	known	74_37	silent	8.82	62	6	SNP	1.000	T	T	44476525	C	T	44476525	2	4	110	1	0	0	0	0	0	0	0	1	14736	912	32	3		3	SLC6A9	1	44476525	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	7538612	44476525	204774096	4	29807											
C1orf175	374977	genome.wustl.edu	37	chr1	55118958	55118958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgactcacaggggcGcctctgtccagcctcaaacc	9	6	10	16	1	3	1	2	1	1	0	4	1	4	1	5	3	2	0	5	3	2	0	rs531104510	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:55118958G>A	ENST00000421030.2	+	3	644	c.359G>A	c.(358-360)cGc>cAc	p.R120H	MROH7_ENST00000409996.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R120H|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.R120H|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.R120H|MROH7_ENST00000472987.1_3'UTR	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	120						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											TCACAGGGGCGCCTCTGTCCA	0.567													G|||	2	0.000399361	0	0	5008	,	,		18327	0.001		0	False		,,,				2504	0.001																0													107	105	106					1																	55118958		1971	4170	6141	SO:0001583	missense	0			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"maestro heat-like repeat containing"	24802	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 175", "HEAT repeat containing 8"	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.359G>A	1.37:g.55118958G>A	ENSP00000396622:p.Arg120His		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R120H	ENST00000421030.2	37	c.359	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	5.475	0.272741	0.10349	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02472	4.81;4.28;4.28	3.58	1.66	0.24008	.	3.081050	0.01441	N	0.015064	T	0.01870	0.0059	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40270	-0.9572	10	0.28530	T	0.3	.	6.1569	0.20342	0.2323:0.5689:0.1988:0.0	.	120;120;120	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	H	120	ENSP00000396622:R120H;ENSP00000343211:R120H;ENSP00000379044:R120H	ENSP00000343211:R120H	R	+	2	0	HEATR8	54891546	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.044000	0.13992	0.477000	0.27464	-1.610000	0.00802	CGC	MROH7-TTC4	-	NULL	ENSG00000271723		0.567	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH7-TTC4	HGNC	protein_coding	OTTHUMT00000346978.1	-	0	21	0	G	NM_198547		55118958	1	tier1	-	no_errors	ENST00000414150	ensembl	human	known	74_37	missense	43.48	13	10	SNP	0.000	A	A	55118958	G	A	55118958	3	1	110	1	0	0	0	0	1	0	0	0	2023	1087	38	1	361	1	C1orf175	1	55118958	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	10642433	55118958	194131663	5	29808											
NEGR1	257194	genome.wustl.edu	37	chr1	72241972	72241972	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgagatgtcatatatctTaggaggaactgaaatgacaa	16	12	9	4	0	2	3	1	3	1	1	2	6	2	5	0	2	1	0	0	2	6	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:72241972T>G	ENST00000357731.5	-	3	657	c.418A>C	c.(418-420)Aag>Cag	p.K140Q	NEGR1_ENST00000306821.3_Missense_Mutation_p.K12Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.K138Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	140	Ig-like C2-type 2.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCATATATCTTAGGAGGAACT	0.363																																																	0													79	74	75					1																	72241972		2203	4300	6503	SO:0001583	missense	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"Immunoglobulin superfamily / I-set domain containing"	17302	protein-coding gene	gene with protein product	"a kindred of IgLON", "neurotractin", "IgLON family member 4"	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.418A>C	1.37:g.72241972T>G	ENSP00000350364:p.Lys140Gln		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.K140Q	ENST00000357731.5	37	c.418	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.656412	0.67586	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.68025	-0.3;-0.3;-0.3	5.97	5.97	0.96955	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.52996	0.1769	N	0.17838	0.53	0.80722	D	1	P;B	0.38048	0.616;0.387	P;B	0.51016	0.656;0.241	T	0.55927	-0.8063	10	0.22706	T	0.39	-12.2104	15.4434	0.75208	0.0:0.0:0.0:1.0	.	138;140	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	Q	140;12;138	ENSP00000350364:K140Q;ENSP00000305938:K12Q;ENSP00000413294:K138Q	ENSP00000305938:K12Q	K	-	1	0	NEGR1	72014560	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.338000	0.79269	2.288000	0.76882	0.533000	0.62120	AAG	NEGR1	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000172260		0.363	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	-	0	32	0	T	NM_173808		72241972	-1	tier1	-	no_errors	ENST00000357731	ensembl	human	known	74_37	missense	60.00	12	18	SNP	1.000	G	G	72241972	T	G	72241972	3	3	110	1	0	0	0	0	1	0	0	0	10356	1763	61	4	666	4	NEGR1	1	72241972	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	17123014	72241972	177008649	6	29809											
SPAG17	200162	genome.wustl.edu	37	chr1	118584486	118584486	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttacttcttggatcttGacttgttcttctttagattt	5	23	6	7	0	5	2	0	1	5	1	5	3	5	3	0	1	1	2	0	1	2	10			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:118584486G>T	ENST00000336338.5	-	21	3059	c.2994C>A	c.(2992-2994)gtC>gtA	p.V998V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	998						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGGATCTTGACTTGTTCTT	0.393																																																	0													341	342	342					1																	118584486		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2994C>A	1.37:g.118584486G>T			Q8NAZ1|Q9NT21	Silent	SNP	NULL	p.V998	ENST00000336338.5	37	c.2994	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.393	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0	88	0	G	NM_206996		118584486	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	silent	44.23	58	46	SNP	0.000	T	T	118584486	G	T	118584486	2	4	110	1	0	0	0	0	0	0	0	1	15026	1277	45	3		3	SPAG17	1	118584486	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	46342514	118584486	130666135	7	29810											
MCL1	4170	genome.wustl.edu	37	chr1	150550893	150550893	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttgttacgccgtcgcTgaaaacatggatcatcactc	10	11	8	12	3	2	1	2	1	0	0	4	2	2	2	2	1	2	3	2	1	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:150550893T>G	ENST00000369026.2	-	2	822	c.763A>C	c.(763-765)Agc>Cgc	p.S255R	MCL1_ENST00000307940.3_Intron|MCL1_ENST00000464132.1_5'UTR	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	255					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ACGCCGTCGCTGAAAACATGG	0.453																																																	0													112	113	113					1																	150550893		2203	4300	6503	SO:0001583	missense	0			BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"myeloid cell leukemia sequence 1 (BCL2-related)"			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.763A>C	1.37:g.150550893T>G	ENSP00000358022:p.Ser255Arg		B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam	p.S255R	ENST00000369026.2	37	c.763	CCDS957.1	1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770682	0.49680	.	.	ENSG00000143384	ENST00000369026;ENST00000439749	T	0.03920	3.76	5.01	5.01	0.66863	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);Apoptosis regulator, Bcl-2, BH1 motif, conserved site (1);	0.399797	0.30437	N	0.009630	T	0.01523	0.0049	N	0.20574	0.59	0.80722	D	1	B	0.17038	0.02	B	0.18263	0.021	T	0.51671	-0.8676	10	0.21014	T	0.42	-2.8222	13.7112	0.62670	0.0:0.0:0.0:1.0	.	255	Q07820	MCL1_HUMAN	R	255;184	ENSP00000358022:S255R	ENSP00000358022:S255R	S	-	1	0	MCL1	148817517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.275000	0.58927	2.103000	0.63969	0.533000	0.62120	AGC	MCL1	-	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam	ENSG00000143384		0.453	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCL1	HGNC	protein_coding	OTTHUMT00000084402.1	-	0	41	0	T	NM_021960		150550893	-1	tier1	-	no_errors	ENST00000369026	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	G	G	150550893	T	G	150550893	3	3	110	1	0	0	0	0	1	0	0	0	9422	1580	55	4	308	4	MCL1	1	150550893	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	31966407	150550893	98699728	8	29811											
FLG	2312	genome.wustl.edu	37	chr1	152280796	152280796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcatatgtttttctgcttGcacttctggatcctgactgc	5	18	8	10	0	3	1	1	1	2	0	4	2	4	2	1	1	3	3	1	1	1	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:152280796G>T	ENST00000368799.1	-	3	6601	c.6566C>A	c.(6565-6567)gCa>gAa	p.A2189E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2189	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGCTTGCACTTCTGGA	0.532									Ichthyosis																																								0													470	398	423					1																	152280796		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6566C>A	1.37:g.152280796G>T	ENSP00000357789:p.Ala2189Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.A2189E	ENST00000368799.1	37	c.6566	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	5.459	0.269771	0.10349	.	.	ENSG00000143631	ENST00000368799	T	0.01821	4.62	2.37	-3.76	0.04359	.	.	.	.	.	T	0.00468	0.0015	M	0.76574	2.34	0.09310	N	1	B	0.21225	0.053	B	0.09377	0.004	T	0.53158	-0.8478	9	0.02654	T	1	.	0.3882	0.00406	0.2734:0.199:0.3267:0.201	.	2189	P20930	FILA_HUMAN	E	2189	ENSP00000357789:A2189E	ENSP00000357789:A2189E	A	-	2	0	FLG	150547420	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	0.226000	0.17776	-1.089000	0.03073	0.485000	0.47835	GCA	FLG	-	NULL	ENSG00000143631		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0	193	0	G	NM_002016		152280796	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	33.09	180	89	SNP	0.000	T	T	152280796	G	T	152280796	3	4	110	1	0	0	0	0	1	0	0	0	5944	1319	46	3	5623	3	FLG	1	152280796	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1729903	152280796	96969825	9	29812											
FCRL3	115352	genome.wustl.edu	37	chr1	157659609	157659609	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttccttcgggccctggCgtaatgcagcagagcagcag	7	9	14	11	2	0	1	0	0	0	1	2	1	1	1	2	3	4	6	2	3	1	3	rs142711385		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:157659609C>G	ENST00000368184.3	-	10	2080	c.1789G>C	c.(1789-1791)Gcc>Ccc	p.A597P	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.A597P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	597						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CGGGCCCTGGCGTAATGCAGC	0.532																																																	0													98	86	90					1																	157659609		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1789G>C	1.37:g.157659609C>G	ENSP00000357167:p.Ala597Pro		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A603P	ENST00000368184.3	37	c.1807	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600424	0.46423	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.50277	0.76;0.75	5.21	0.0143	0.14099	.	1.727090	0.03890	N	0.278507	T	0.18215	0.0437	N	0.14661	0.345	0.09310	N	1	P;P;P	0.52692	0.924;0.949;0.955	P;P;P	0.53006	0.522;0.592;0.715	T	0.05954	-1.0854	10	0.34782	T	0.22	.	1.163	0.01810	0.4356:0.1902:0.0889:0.2854	.	597;502;597	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	P	597	ENSP00000357169:A597P;ENSP00000357167:A597P	ENSP00000292392:A597P	A	-	1	0	FCRL3	155926233	0.022000	0.18835	0.000000	0.03702	0.000000	0.00434	0.170000	0.16663	-0.276000	0.09206	-0.284000	0.09977	GCC	FCRL3	-	NULL	ENSG00000160856		0.532	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	55	0	C	NM_052939		157659609	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.000	G	G	157659609	C	G	157659609	3	3	110	1	0	0	0	0	1	0	0	0	5818	768	27	5	439	5	FCRL3	1	157659609	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	5378813	157659609	91591012	10	29813											
FCRL3	115352	genome.wustl.edu	37	chr1	157665953	157665953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctctgccaacagggaacGctgggtctttctacccaggc	8	8	11	14	1	3	0	0	0	3	0	3	1	3	1	2	3	5	2	2	3	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:157665953G>T	ENST00000368184.3	-	7	1300	c.1009C>A	c.(1009-1011)Cgt>Agt	p.R337S	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R337S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	337	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AACAGGGAACGCTGGGTCTTT	0.512																																																	0													135	120	125					1																	157665953		2203	4300	6503	SO:0001583	missense	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1009C>A	1.37:g.157665953G>T	ENSP00000357167:p.Arg337Ser		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R337S	ENST00000368184.3	37	c.1009	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482587	0.44147	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12361	2.69;2.69	5.35	1.15	0.20763	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.997465	0.08116	N	0.995495	T	0.07052	0.0179	M	0.68317	2.08	0.09310	N	1	B;B;B	0.25206	0.071;0.12;0.058	B;B;B	0.33690	0.123;0.168;0.155	T	0.44967	-0.9293	10	0.54805	T	0.06	.	4.7392	0.13005	0.2651:0.0:0.5808:0.1541	.	337;242;337	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	S	337	ENSP00000357169:R337S;ENSP00000357167:R337S	ENSP00000292392:R337S	R	-	1	0	FCRL3	155932577	0.004000	0.15560	0.002000	0.10522	0.017000	0.09413	0.956000	0.29202	0.634000	0.30469	-0.150000	0.13652	CGT	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000160856		0.512	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0	54	0	G	NM_052939		157665953	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	missense	45.71	19	16	SNP	0.000	T	T	157665953	G	T	157665953	3	4	110	1	0	0	0	0	1	0	0	0	5818	1087	38	2	1231	2	FCRL3	1	157665953	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	6344	157665953	91584668	11	29814											
FCRL2	79368	genome.wustl.edu	37	chr1	157738276	157738276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctacagtaatatttgcCggcatcactctctttcacag	10	13	6	12	1	4	0	2	0	2	0	5	0	4	0	1	1	3	3	1	1	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:157738276C>A	ENST00000361516.3	-	5	859	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	FCRL2_ENST00000392274.3_Missense_Mutation_p.G271C|FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	271	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.G271S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAATATTTGCCGGCATCACTC	0.507																																																	1	Substitution - Missense(1)	large_intestine(1)											181	180	180					1																	157738276		2203	4300	6503	SO:0001583	missense	0			AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	14875	protein-coding gene	gene with protein product		606509	"SH2 domain-containing phosphatase anchor protein 1"	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.811G>T	1.37:g.157738276C>A	ENSP00000355157:p.Gly271Cys		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G271C	ENST00000361516.3	37	c.811	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390008	0.42410	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	T;T	0.26810	1.71;1.71	3.89	2.97	0.34412	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.45606	D	0.000346	T	0.54967	0.1891	H	0.99582	4.64	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57100	-0.7869	10	0.87932	D	0	.	7.6821	0.28520	0.0:0.8815:0.0:0.1185	.	271;271	B4DVJ9;Q96LA5	.;FCRL2_HUMAN	C	271	ENSP00000355157:G271C;ENSP00000376100:G271C	ENSP00000355157:G271C	G	-	1	0	FCRL2	156004900	0.000000	0.05858	0.010000	0.14722	0.005000	0.04900	0.798000	0.27014	0.956000	0.37904	0.655000	0.94253	GGC	FCRL2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000132704		0.507	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	HGNC	protein_coding	OTTHUMT00000051408.2	-	0	27	0	C	NM_030764		157738276	-1	tier1	-	no_errors	ENST00000361516	ensembl	human	known	74_37	missense	35.14	24	13	SNP	0.021	A	A	157738276	C	A	157738276	3	1	110	1	0	0	0	0	1	0	0	0	5817	652	23	2	747	2	FCRL2	1	157738276	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	72323	157738276	91512345	12	29815											
DARS2	55157	genome.wustl.edu	37	chr1	173808541	173808541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagaccagactgggAtccagagtttaattgagggt	11	12	12	6	0	0	4	0	1	0	3	1	5	1	5	2	2	0	2	2	2	2	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:173808541A>G	ENST00000361951.4	+	10	1604	c.877A>G	c.(877-879)Atc>Gtc	p.I293V	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	293					gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCAGACTGGGATCCAGAGTTT	0.388																																																	0													137	127	130					1																	173808541		2203	4300	6503	SO:0001583	missense	0			AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"Aminoacyl tRNA synthetases / Class II"	25538	protein-coding gene	gene with protein product	"aspartate tRNA ligase 2, mitochondrial"	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.877A>G	1.37:g.173808541A>G	ENSP00000355086:p.Ile293Val			Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_GAD_dom,pfam_NA-bd_OB_tRNA,superfamily_GAD_dom,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,prints_Lys-tRNA-synth_II_C,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	p.I293V	ENST00000361951.4	37	c.877	CCDS1311.1	1	.	.	.	.	.	.	.	.	.	.	A	9.715	1.158147	0.21454	.	.	ENSG00000117593	ENST00000361951	T	0.78126	-1.15	5.44	3.13	0.36017	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.048589	0.85682	D	0.000000	T	0.41926	0.1180	N	0.17764	0.52	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.20371	-1.0277	10	0.21014	T	0.42	-11.3271	8.9809	0.35964	0.8464:0.0:0.1536:0.0	.	293	Q6PI48	SYDM_HUMAN	V	293	ENSP00000355086:I293V	ENSP00000355086:I293V	I	+	1	0	DARS2	172075164	1.000000	0.71417	0.855000	0.33649	0.537000	0.34900	5.059000	0.64306	0.383000	0.24910	-0.353000	0.07706	ATC	DARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asp-tRNA-ligase_IIb_bac/mt	ENSG00000117593		0.388	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DARS2	HGNC	protein_coding	OTTHUMT00000084220.1	-	0	52	0	A	NM_018122		173808541	1	tier1	-	no_errors	ENST00000361951	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.996	G	G	173808541	A	G	173808541	3	3	110	1	0	0	0	0	1	0	0	0	4251	333	12	4	915	4	DARS2	1	173808541	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	16070265	173808541	75442080	13	29816											
CACNA1E	777	genome.wustl.edu	37	chr1	181685207	181685207	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaaccatcaagaggagccgGacagaggccatgactcgaga	14	3	13	11	2	1	4	1	1	0	3	2	7	1	6	3	3	2	1	3	3	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:181685207G>T	ENST00000367573.2	+	10	1257	c.1257G>T	c.(1255-1257)cgG>cgT	p.R419R	CACNA1E_ENST00000360108.3_Silent_p.R419R|CACNA1E_ENST00000358338.5_Silent_p.R370R|CACNA1E_ENST00000367567.4_Silent_p.R26R|CACNA1E_ENST00000367570.1_Silent_p.R419R|CACNA1E_ENST00000526775.1_Silent_p.R419R|CACNA1E_ENST00000357570.5_Silent_p.R370R	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	419					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAGGAGCCGGACAGAGGCCA	0.507																																																	0													79	89	86					1																	181685207		1956	4152	6108	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1257G>T	1.37:g.181685207G>T			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R419	ENST00000367573.2	37	c.1257	CCDS55664.1	1																																																																																			CACNA1E	-	NULL	ENSG00000198216		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	37	0	G	NM_000721		181685207	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	55.36	25	31	SNP	0.981	T	T	181685207	G	T	181685207	2	4	110	1	0	0	0	0	0	0	0	1	2549	1161	41	3		3	CACNA1E	1	181685207	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	7876666	181685207	67565414	14	29817											
CACNA1E	777	genome.wustl.edu	37	chr1	181688895	181688895	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctctctaggtcacagtGggcagtatctttgaagtggt	7	14	12	8	0	3	1	1	1	2	0	4	1	3	1	1	3	1	2	1	3	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:181688895G>A	ENST00000367573.2	+	13	1647	c.1647G>A	c.(1645-1647)gtG>gtA	p.V549V	CACNA1E_ENST00000360108.3_Silent_p.V549V|CACNA1E_ENST00000358338.5_Silent_p.V500V|CACNA1E_ENST00000367567.4_Silent_p.V156V|CACNA1E_ENST00000367570.1_Silent_p.V549V|CACNA1E_ENST00000526775.1_Silent_p.V549V|CACNA1E_ENST00000357570.5_Silent_p.V500V	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	549					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGTCACAGTGGGCAGTATCT	0.507																																																	0													93	88	90					1																	181688895		1985	4171	6156	SO:0001819	synonymous_variant	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1647G>A	1.37:g.181688895G>A			B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.V549	ENST00000367573.2	37	c.1647	CCDS55664.1	1																																																																																			CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.507	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0	40	0	G	NM_000721		181688895	1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	42.37	34	25	SNP	1.000	A	A	181688895	G	A	181688895	2	1	110	1	0	0	0	0	0	0	0	1	2549	1335	47	3		3	CACNA1E	1	181688895	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3688	181688895	67561726	15	29818											
HMCN1	83872	genome.wustl.edu	37	chr1	186135324	186135324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttctttaagatgaggatGaatgtgcagcagggaatccc	11	12	11	7	0	2	3	0	2	2	1	3	5	3	5	1	2	2	2	1	2	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:186135324G>A	ENST00000271588.4	+	99	15557	c.15328G>A	c.(15328-15330)Gaa>Aaa	p.E5110K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E5110K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5110	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATGAGGATGAATGTGCAGC	0.443																																																	0													77	69	72					1																	186135324		2203	4300	6503	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.15328G>A	1.37:g.186135324G>A	ENSP00000271588:p.Glu5110Lys		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.E5110K	ENST00000271588.4	37	c.15328	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.508619	0.96386	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.98849	-5.18;-5.18	5.44	5.44	0.79542	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99420	0.9795	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98600	1.0658	10	0.87932	D	0	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	5110	Q96RW7	HMCN1_HUMAN	K	5110	ENSP00000271588:E5110K;ENSP00000356462:E5110K	ENSP00000271588:E5110K	E	+	1	0	HMCN1	184401947	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.731000	0.98807	2.556000	0.86216	0.650000	0.86243	GAA	HMCN1	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000143341		0.443	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0	55	0	G	NM_031935		186135324	1	tier1	-	no_errors	ENST00000271588	ensembl	human	known	74_37	missense	33.85	43	22	SNP	1.000	A	A	186135324	G	A	186135324	3	1	110	1	0	0	0	0	1	0	0	0	7247	1291	45	3	15722	3	HMCN1	1	186135324	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4446429	186135324	63115297	16	29819											
NUAK2	81788	genome.wustl.edu	37	chr1	205275371	205275371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgaggcatagagggggCtcccacagaatgtctgcagg	9	6	16	10	1	1	2	0	0	1	2	2	3	2	2	1	5	1	3	1	5	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:205275371C>G	ENST00000367157.3	-	5	761	c.635G>C	c.(634-636)aGc>aCc	p.S212T		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATAGAGGGGGCTCCCACAGAA	0.552																																																	0													108	105	106					1																	205275371		2203	4300	6503	SO:0001583	missense	0			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"SNF1/AMP activated protein kinase"	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.635G>C	1.37:g.205275371C>G	ENSP00000356125:p.Ser212Thr			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S212T	ENST00000367157.3	37	c.635	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933817	0.92458	.	.	ENSG00000163545	ENST00000367157	T	0.12672	2.66	5.74	5.74	0.90152	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000051	T	0.18045	0.0433	N	0.02345	-0.59	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.52533	-0.8563	10	0.87932	D	0	.	19.5148	0.95159	0.0:1.0:0.0:0.0	.	212	Q9H093	NUAK2_HUMAN	T	212	ENSP00000356125:S212T	ENSP00000356125:S212T	S	-	2	0	NUAK2	203541994	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.818000	0.86416	2.702000	0.92279	0.655000	0.94253	AGC	NUAK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000163545		0.552	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	-	0	51	0	C	NM_030952		205275371	-1	tier1	-	no_errors	ENST00000367157	ensembl	human	known	74_37	missense	86.67	4	26	SNP	1.000	G	G	205275371	C	G	205275371	3	3	110	1	0	0	0	0	1	0	0	0	10752	797	28	5	1263	5	NUAK2	1	205275371	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	19140047	205275371	43975250	17	29820											
CR2	1380	genome.wustl.edu	37	chr1	207641998	207641998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctggttacttgcttgttgGagaaaagatcattaactgtt	11	16	9	5	0	2	2	1	0	1	2	2	3	2	2	0	2	3	4	0	2	4	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:207641998G>T	ENST00000367058.3	+	3	761	c.572G>T	c.(571-573)gGa>gTa	p.G191V	CR2_ENST00000367057.3_Missense_Mutation_p.G191V|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.G191V|CR2_ENST00000367059.3_Missense_Mutation_p.G191V	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	191	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGCTTGTTGGAGAAAAGATC	0.428																																																	0													285	264	271					1																	207641998		2203	4300	6503	SO:0001583	missense	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"CD molecules", "Complement system"	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.572G>T	1.37:g.207641998G>T	ENSP00000356025:p.Gly191Val		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G191V	ENST00000367058.3	37	c.572	CCDS1478.1	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487408	0.63962	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.82	5.82	0.92795	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.91489	0.7313	H	0.99675	4.695	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	D	0.94307	0.7542	9	0.56958	D	0.05	.	15.6087	0.76696	0.0:0.0:1.0:0.0	.	191;191;191	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	V	191	ENSP00000356025:G191V;ENSP00000356024:G191V;ENSP00000356026:G191V;ENSP00000404222:G191V	ENSP00000356024:G191V	G	+	2	0	CR2	205708621	0.999000	0.42202	0.187000	0.23214	0.676000	0.39594	4.927000	0.63440	2.756000	0.94617	0.563000	0.77884	GGA	CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.428	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1	-	0	72	0	G	NM_001877		207641998	1	tier1	-	no_errors	ENST00000367057	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.592	T	T	207641998	G	T	207641998	3	4	110	1	0	0	0	0	1	0	0	0	3849	1174	41	3	582	3	CR2	1	207641998	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2366627	207641998	41608623	18	29821											
OBSCN	84033	genome.wustl.edu	37	chr1	228470840	228470840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactggctgaaggacaggaaGgccatccgcaagagccagaa	14	3	13	11	1	0	3	0	1	0	2	1	5	1	5	3	4	1	2	3	4	4	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:228470840G>T	ENST00000422127.1	+	32	8636	c.8592G>T	c.(8590-8592)aaG>aaT	p.K2864N	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K2864N|OBSCN_ENST00000359599.6_Missense_Mutation_p.K1711N|OBSCN_ENST00000570156.2_Missense_Mutation_p.K3293N	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2864	Ig-like 28.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGACAGGAAGGCCATCCGCA	0.662																																																	0													19	25	23					1																	228470840		2127	4204	6331	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8592G>T	1.37:g.228470840G>T	ENSP00000409493:p.Lys2864Asn		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.K2864N	ENST00000422127.1	37	c.8592	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	g	19.15	3.771977	0.69992	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T	0.68624	-0.34;-0.34;-0.34	5.61	-0.157	0.13387	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.068477	0.56097	D	0.000033	T	0.76321	0.3971	M	0.73962	2.25	0.80722	D	1	P;D;D	0.69078	0.81;0.977;0.997	P;P;D	0.83275	0.863;0.787;0.996	T	0.72786	-0.4188	10	0.19590	T	0.45	.	12.0829	0.53682	0.4185:0.0:0.5815:0.0	.	2864;2864;2864	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	N	2864;2864;1711;563;270	ENSP00000284548:K2864N;ENSP00000409493:K2864N;ENSP00000352613:K1711N	ENSP00000284548:K2864N	K	+	3	2	OBSCN	226537463	0.954000	0.32549	0.956000	0.39512	0.667000	0.39255	0.047000	0.14056	0.060000	0.16281	-0.144000	0.13903	AAG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000154358		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	37	0	G	NM_052843		228470840	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	61.90	8	13	SNP	0.986	T	T	228470840	G	T	228470840	3	4	110	1	0	0	0	0	1	0	0	0	10851	991	35	3	8714	3	OBSCN	1	228470840	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	20828842	228470840	20779781	19	29822											
TRIM67	440730	genome.wustl.edu	37	chr1	231349582	231349582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggaaggtggcgtgtgcaaGggggccaccgtgggcgtgct	6	6	20	9	4	0	0	0	0	0	0	0	1	0	1	2	6	2	2	2	6	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:231349582G>T	ENST00000366653.5	+	9	2145	c.2145G>T	c.(2143-2145)aaG>aaT	p.K715N	TRIM67_ENST00000449018.3_Missense_Mutation_p.K653N|TRIM67_ENST00000366652.2_Missense_Mutation_p.K715N|TRIM67_ENST00000444294.3_Missense_Mutation_p.K713N			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	715	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCGTGTGCAAGGGGGCCACCG	0.582																																																	0													100	108	105					1																	231349582		2080	4204	6284	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"Tripartite motif containing / Tripartite motif containing", "Fibronectin type III domain containing", "RING-type (C3HC4) zinc fingers"	31859	protein-coding gene	gene with protein product		610584	"tripartite motif-containing 67"				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.2145G>T	1.37:g.231349582G>T	ENSP00000355613:p.Lys715Asn		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.K715N	ENST00000366653.5	37	c.2145	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862178	0.51482	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.33	1.0	0.19881	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.72118	2.19	0.51012	D	0.999907	D	0.55385	0.971	P	0.61722	0.893	T	0.67608	-0.5627	10	0.16896	T	0.51	.	8.5631	0.33523	0.4764:0.0:0.5236:0.0	.	715	Q6ZTA4	TRI67_HUMAN	N	713;715;653;715	ENSP00000412124:K713N;ENSP00000355612:K715N;ENSP00000400163:K653N;ENSP00000355613:K715N	ENSP00000355612:K715N	K	+	3	2	TRIM67	229416205	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	2.730000	0.47335	0.252000	0.21531	-0.254000	0.11334	AAG	TRIM67	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000119283		0.582	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	-	0	44	0	G	NM_001004342		231349582	1	tier1	-	no_errors	ENST00000366652	ensembl	human	known	74_37	missense	30.00	7	3	SNP	1.000	T	T	231349582	G	T	231349582	3	4	110	1	0	0	0	0	1	0	0	0	16588	991	35	3	2179	3	TRIM67	1	231349582	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2878742	231349582	17901039	20	29823											
OR2T2	401992	genome.wustl.edu	37	chr1	248617052	248617052	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagagcatcagggtggcGactgtgatcaggaagggcta	10	7	15	9	1	2	2	2	1	0	1	3	4	3	3	1	4	1	2	1	4	2	1	rs200152335		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr1:248617052G>T	ENST00000342927.3	+	1	976	c.954G>T	c.(952-954)gcG>gcT	p.A318A		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGGTGGCGACTGTGATCA	0.552																																																	0													55	60	58					1																	248617052		2199	4299	6498	SO:0001819	synonymous_variant	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"GPCR / Class A : Olfactory receptors"	14725	protein-coding gene	gene with protein product			"olfactory receptor, family 2, subfamily T, member 2 pseudogene"	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.954G>T	1.37:g.248617052G>T			B2RNM1|B9EH01	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A318	ENST00000342927.3	37	c.954	CCDS31116.1	1																																																																																			OR2T2	-	NULL	ENSG00000196240		0.552	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	-	0	58	0	G	NM_001004136		248617052	1	tier1	-	no_errors	ENST00000342927	ensembl	human	known	74_37	silent	77.78	8	28	SNP	0.001	T	T	248617052	G	T	248617052	2	4	110	1	0	0	0	0	0	0	0	1	11059	1045	37	2		2	OR2T2	1	248617052	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	17267470	248617052	633569	21	29824											
TTC15	51112	genome.wustl.edu	37	chr2	3425669	3425669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagagctgcagaaactggagGgcagcagtggacctgtgcgg	10	5	17	9	1	0	2	0	0	0	2	0	4	0	4	1	4	5	4	1	4	1	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:3425669G>T	ENST00000324266.5	+	4	1377	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R394S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	394					vesicle-mediated transport (GO:0016192)												GAAACTGGAGGGCAGCAGTGG	0.592																																																	0													45	43	43					2																	3425669		2203	4300	6503	SO:0001583	missense	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"Trafficking protein particle complex", "Tetratricopeptide (TTC) repeat domain containing"	24284	protein-coding gene	gene with protein product		614139	"tetratricopeptide repeat domain 15"	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1182G>T	2.37:g.3425669G>T	ENSP00000324318:p.Arg394Ser		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R394S	ENST00000324266.5	37	c.1182	CCDS1652.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.84|19.84	3.901198|3.901198	0.72754|0.72754	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000441983|ENST00000382110;ENST00000304601;ENST00000324266	.|T;T	.|0.55052	.|0.54;0.54	4.72|4.72	2.89|2.89	0.33648|0.33648	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67711|0.67711	0.2922|0.2922	M|M	0.81942|0.81942	2.565|2.565	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|P;D	.|0.68621	.|0.889;0.959	T|T	0.67975|0.67975	-0.5531|-0.5531	5|10	.|0.48119	.|T	.|0.1	.|.	8.0792|8.0792	0.30735|0.30735	0.2527:0.0:0.7473:0.0|0.2527:0.0:0.7473:0.0	.|.	.|377;394	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	V|S	74|394;377;394	.|ENSP00000371544:R394S;ENSP00000324318:R394S	.|ENSP00000303612:R377S	G|R	+|+	2|3	0|2	TTC15|TTC15	3404676|3404676	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	0.291000|0.291000	0.18994|0.18994	1.208000|1.208000	0.43306|0.43306	0.563000|0.563000	0.77884|0.77884	GGG|AGG	TRAPPC12	-	NULL	ENSG00000171853		0.592	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	-	0	24	0	G	NM_016030		3425669	1	tier1	-	no_errors	ENST00000324266	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	T	T	3425669	G	T	3425669	3	4	110	1	0	0	0	0	1	0	0	0	16731	1223	43	3	1192	3	TTC15	2	3425669	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09		3425669	239773704	22	29825											
SNX17	9784	genome.wustl.edu	37	chr2	27599346	27599346	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctctgcctcttcttccccagGagtcacctgatgccacccgg	5	10	8	18	1	4	1	1	1	3	0	5	2	5	2	6	2	2	0	6	2	0	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:27599346G>C	ENST00000233575.2	+	14	1480	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Splice_Site_p.E395Q|SNX17_ENST00000542478.1_Splice_Site_p.E206Q|SNX17_ENST00000543024.1_Splice_Site_p.E206Q	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	420	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCCCCAGGAGTCACCTGA	0.547																																																	0													153	144	147					2																	27599346		2203	4300	6503	SO:0001630	splice_region_variant	0			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"Sorting nexins"	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1258-1G>C	2.37:g.27599346G>C			B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.E420Q	ENST00000233575.2	37	c.1258	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534245	0.45073	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.33438	1.85;1.41;1.43;1.41	5.36	5.36	0.76844	.	0.088945	0.85682	D	0.000000	T	0.25306	0.0615	L	0.32530	0.975	0.58432	D	0.99999	P;B;P;P	0.43633	0.759;0.005;0.759;0.813	B;B;B;B	0.37943	0.143;0.002;0.143;0.261	T	0.01810	-1.1269	9	.	.	.	-18.607	17.8169	0.88637	0.0:0.0:1.0:0.0	.	395;408;400;420	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	Q	420;206;395;206	ENSP00000233575:E420Q;ENSP00000441779:E206Q;ENSP00000439208:E395Q;ENSP00000442567:E206Q	.	E	+	1	0	SNX17	27452850	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.914000	0.92735	2.797000	0.96272	0.561000	0.74099	GAG	SNX17	-	NULL	ENSG00000115234		0.547	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	-	0	49	0	G	NM_014748	Missense_Mutation	27599346	1	tier1	-	no_errors	ENST00000233575	ensembl	human	known	74_37	missense	57.89	31	44	SNP	1.000	C	C	27599346	G	C	27599346	5	2	110	1	0	0	0	0	0	0	1	0	14933	1188	41	5	1312	5	SNX17	2	27599346	Splice_Site	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	24173677	27599346	215600027	23	29826											
RASGRP3	25780	genome.wustl.edu	37	chr2	33764169	33764169	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttatcagcagcctacCtcccctacgacgcccaacaa	10	10	5	16	2	1	0	1	0	0	0	2	1	2	0	5	0	5	2	5	0	5	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:33764169C>A	ENST00000403687.3	+	12	1910	c.1170C>A	c.(1168-1170)acC>acA	p.T390T	RASGRP3_ENST00000402538.3_Silent_p.T390T|RASGRP3_ENST00000407811.1_Silent_p.T389T	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	390					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					AGCAGCCTACCTCCCCTACGA	0.468																																																	0													33	31	32					2																	33764169		1838	4090	5928	SO:0001819	synonymous_variant	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"EF-hand domain containing"	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1170C>A	2.37:g.33764169C>A			D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.T390	ENST00000403687.3	37	c.1170	CCDS46256.1	2																																																																																			RASGRP3	-	superfamily_Ras_GEF_dom	ENSG00000152689		0.468	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	-	0	24	0	C	NM_015376		33764169	1	tier1	-	no_errors	ENST00000402538	ensembl	human	known	74_37	silent	50.00	21	21	SNP	1.000	A	A	33764169	C	A	33764169	2	1	110	1	0	0	0	0	0	0	0	1	13121	668	24	3		3	RASGRP3	2	33764169	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	6164823	33764169	209435204	24	29827											
SOCS5	9655	genome.wustl.edu	37	chr2	46986133	46986133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcaaaggagagagaggcGctacggcgtaagttctgtac	12	8	13	8	3	2	2	1	0	1	2	2	4	2	2	0	3	2	4	0	3	4	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:46986133G>C	ENST00000306503.5	+	2	636	c.464G>C	c.(463-465)cGc>cCc	p.R155P	SOCS5_ENST00000394861.2_Missense_Mutation_p.R155P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	155					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGAGAGGCGCTACGGCGTA	0.463																																																	0													76	72	73					2																	46986133		2203	4300	6503	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"Suppressors of cytokine signaling", "SH2 domain containing"	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.464G>C	2.37:g.46986133G>C	ENSP00000305133:p.Arg155Pro		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R155P	ENST00000306503.5	37	c.464	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784978	0.49997	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.36157	1.27;1.27	5.31	4.43	0.53597	.	0.055265	0.64402	D	0.000001	T	0.49270	0.1547	L	0.32530	0.975	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.49523	-0.8931	10	0.46703	T	0.11	-18.2638	15.8562	0.78979	0.0:0.1359:0.8641:0.0	.	155	O75159	SOCS5_HUMAN	P	155	ENSP00000305133:R155P;ENSP00000378330:R155P	ENSP00000305133:R155P	R	+	2	0	SOCS5	46839637	1.000000	0.71417	0.885000	0.34714	0.580000	0.36256	9.369000	0.97156	1.469000	0.48083	0.655000	0.94253	CGC	SOCS5	-	pfam_SOCS	ENSG00000171150		0.463	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	-	0	39	0	G			46986133	1	tier1	-	no_errors	ENST00000306503	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.999	C	C	46986133	G	C	46986133	3	2	110	1	0	0	0	0	1	0	0	0	14962	1087	38	5	466	5	SOCS5	2	46986133	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	13221964	46986133	196213240	25	29828											
NRXN1	9378	genome.wustl.edu	37	chr2	50280637	50280637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttcaagccattgtagtaCagcccagagagctggccctg	10	9	10	12	0	1	1	1	0	0	1	1	2	1	1	3	1	4	3	3	1	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:50280637C>A	ENST00000406316.2	-	20	5286	c.3810G>T	c.(3808-3810)ctG>ctT	p.L1270L	NRXN1_ENST00000406859.3_Silent_p.L1270L|NRXN1_ENST00000401710.1_Silent_p.L288L|NRXN1_ENST00000402717.3_Silent_p.L1292L|NRXN1_ENST00000405472.3_Silent_p.L1292L|NRXN1_ENST00000342183.5_Silent_p.L235L|NRXN1_ENST00000404971.1_Silent_p.L1340L|NRXN1_ENST00000401669.2_Silent_p.L1300L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1270	Laminin G-like 6. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATTGTAGTACAGCCCAGAGA	0.498																																																	0													93	89	91					2																	50280637		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3810G>T	2.37:g.50280637C>A			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1292	ENST00000406316.2	37	c.3876	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.498	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0	44	0	C			50280637	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	silent	31.76	57	27	SNP	1.000	A	A	50280637	C	A	50280637	2	1	110	1	0	0	0	0	0	0	0	1	10704	465	17	3		3	NRXN1	2	50280637	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	3294504	50280637	192918736	26	29829											
COMMD1	150684	genome.wustl.edu	37	chr2	62363038	62363038	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagacgctgtcagaggtaGaagaaagtatcagcacactg	15	7	12	7	1	2	5	2	1	0	4	2	5	2	5	0	1	1	4	0	1	5	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:62363038G>C	ENST00000311832.5	+	3	567	c.535G>C	c.(535-537)Gaa>Caa	p.E179Q	COMMD1_ENST00000472729.1_3'UTR|AC018462.2_ENST00000421323.1_RNA|AC018462.2_ENST00000425966.2_RNA	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	179	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GTCAGAGGTAGAAGAAAGTAT	0.413																																																	0													131	124	126					2																	62363038		2203	4300	6503	SO:0001583	missense	0			BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"copper metabolism gene MURR1"	607238	"chromosome 2 open reading frame 5 (MURR1)"	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.535G>C	2.37:g.62363038G>C	ENSP00000308236:p.Glu179Gln		B4DFQ4|Q96GS0	Missense_Mutation	SNP	pfam_HCaRG	p.E179Q	ENST00000311832.5	37	c.535	CCDS1869.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.14|17.14	3.314024|3.314024	0.60414|0.60414	.|.	.|.	ENSG00000173163|ENSG00000173163	ENST00000311832|ENST00000458337;ENST00000427417;ENST00000444166	T|.	0.07567|.	3.18|.	5.55|5.55	5.55|5.55	0.83447|0.83447	COMM domain (1);|.	0.053583|.	0.85682|.	D|.	0.000000|.	T|T	0.60261|0.60261	0.2255|0.2255	L|L	0.41356|0.41356	1.27|1.27	0.80722|0.80722	D|D	1|1	P|.	0.42296|.	0.775|.	B|.	0.43658|.	0.426|.	T|T	0.54397|0.54397	-0.8300|-0.8300	10|5	0.24483|.	T|.	0.36|.	.|.	15.3677|15.3677	0.74535|0.74535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	179|.	Q8N668|.	COMD1_HUMAN|.	Q|T	179|26;26;20	ENSP00000308236:E179Q|.	ENSP00000308236:E179Q|.	E|R	+|+	1|2	0|0	COMMD1|COMMD1	62216542|62216542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.556000|4.556000	0.60775|0.60775	2.776000|2.776000	0.95493|0.95493	0.579000|0.579000	0.79373|0.79373	GAA|AGA	COMMD1	-	pfam_HCaRG	ENSG00000173163		0.413	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD1	HGNC	protein_coding	OTTHUMT00000251607.2	-	0	79	0	G	NM_152516		62363038	1	tier1	-	no_errors	ENST00000311832	ensembl	human	known	74_37	missense	59.26	44	64	SNP	1.000	C	C	62363038	G	C	62363038	3	2	110	1	0	0	0	0	1	0	0	0	3721	943	33	5	545	5	COMMD1	2	62363038	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	12082401	62363038	180836335	27	29830											
EXOC6B	23233	genome.wustl.edu	37	chr2	72606863	72606863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcactgtcttacgttcaCattctctgacgtccaagttg	7	15	8	11	2	4	1	2	1	2	0	6	1	5	1	1	1	1	2	1	1	2	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:72606863C>A	ENST00000272427.6	-	19	2247	c.2117G>T	c.(2116-2118)tGt>tTt	p.C706F		NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	706					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTTACGTTCACATTCTCTGAC	0.448																																																	0													83	81	81					2																	72606863		2016	4178	6194	SO:0001583	missense	0			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"SEC15-like 2 (S. cerevisiae)", "SEC15 homolog B (S. cerevisiae)"	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2117G>T	2.37:g.72606863C>A	ENSP00000272427:p.Cys706Phe		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.C706F	ENST00000272427.6	37	c.2117	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134721	0.77662	.	.	ENSG00000144036	ENST00000272427	T	0.29917	1.55	4.73	4.73	0.59995	.	.	.	.	.	T	0.56906	0.2017	M	0.78456	2.415	0.80722	D	1	D	0.62365	0.991	D	0.79784	0.993	T	0.59295	-0.7481	9	0.48119	T	0.1	.	16.4984	0.84251	0.0:1.0:0.0:0.0	.	706	Q9Y2D4	EXC6B_HUMAN	F	706	ENSP00000272427:C706F	ENSP00000272427:C706F	C	-	2	0	EXOC6B	72460371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.618000	0.83043	2.449000	0.82847	0.558000	0.71614	TGT	EXOC6B	-	pfam_Sec15,pirsf_Sec15	ENSG00000144036		0.448	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	-	0	29	0	C	XM_039570		72606863	-1	tier1	-	no_errors	ENST00000272427	ensembl	human	known	74_37	missense	50.00	17	17	SNP	1.000	A	A	72606863	C	A	72606863	3	1	110	1	0	0	0	0	1	0	0	0	5325	478	17	3	334	3	EXOC6B	2	72606863	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	10243825	72606863	170592510	28	29831											
SMYD1	150572	genome.wustl.edu	37	chr2	88383991	88383991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaagagatatgggaaGgtgcccaatgagaacatcag	15	6	12	8	0	2	2	2	1	0	2	2	5	2	3	2	2	2	0	2	2	5	1	rs368545680		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:88383991G>T	ENST00000419482.2	+	2	379	c.294G>T	c.(292-294)aaG>aaT	p.K98N	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Splice_Site_p.K98N|MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000444564.2_Missense_Mutation_p.K98N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	98	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GATATGGGAAGGTGCCCAATG	0.522																																																	0													88	75	79					2																	88383991		2203	4300	6503	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"Zinc fingers, MYND-type", "Chromatin-modifying enzymes / K-methyltransferases"	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.294G>T	2.37:g.88383991G>T	ENSP00000393453:p.Lys98Asn		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.K98N	ENST00000419482.2	37	c.294	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773884	0.49786	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T	0.13778	2.56;2.56	5.63	1.75	0.24633	SET domain (2);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.42245	1.32	0.47183	D	0.999347	D;P	0.59767	0.986;0.941	P;B	0.54372	0.75;0.386	T	0.00423	-1.1748	10	0.56958	D	0.05	-29.9783	11.187	0.48662	0.277:0.0:0.723:0.0	.	98;98	Q8NB12;C9JUP3	SMYD1_HUMAN;.	N	98	ENSP00000393453:K98N;ENSP00000407888:K98N	ENSP00000393453:K98N	K	+	3	2	SMYD1	88165106	1.000000	0.71417	0.998000	0.56505	0.578000	0.36192	0.764000	0.26532	0.043000	0.15746	-1.347000	0.01240	AAG	SMYD1	-	pfam_SET_dom,smart_SET_dom	ENSG00000115593		0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0	37	0	G	XM_097915		88383991	1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	missense	53.49	20	23	SNP	1.000	T	T	88383991	G	T	88383991	3	4	110	1	0	0	0	0	1	0	0	0	14866	991	35	3	300	3	SMYD1	2	88383991	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	15777128	88383991	154815382	29	29832											
NCAPH	23397	genome.wustl.edu	37	chr2	97008912	97008912	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttgactaggtggctgcGggtactctggatgccagcac	6	12	14	9	1	1	1	0	1	1	0	1	2	1	2	1	4	4	4	1	4	2	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:97008912G>T	ENST00000240423.4	+	5	508	c.465G>T	c.(463-465)gcG>gcT	p.A155A	NCAPH_ENST00000455200.1_Silent_p.A144A|NCAPH_ENST00000427946.1_Silent_p.A19A	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	155					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				AGGTGGCTGCGGGTACTCTGG	0.483																																																	0													92	77	82					2																	97008912		2203	4300	6503	SO:0001819	synonymous_variant	0			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"barren (Drosophila) homolog", "barren homolog (Drosophila)", "barren homolog 1 (Drosophila)"	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.465G>T	2.37:g.97008912G>T			B4E189|Q8TB87	Silent	SNP	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.A155	ENST00000240423.4	37	c.465	CCDS2021.1	2																																																																																			NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.483	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2	-	0	42	0	G	NM_015341		97008912	1	tier1	-	no_errors	ENST00000240423	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.608	T	T	97008912	G	T	97008912	2	4	110	1	0	0	0	0	0	0	0	1	10248	1103	39	2		2	NCAPH	2	97008912	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	8624921	97008912	146190461	30	29833											
EPB41L5	57669	genome.wustl.edu	37	chr2	120922456	120922456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcttgcatctctaactgaGaatctaattgatcacacagt	12	14	6	9	0	3	2	1	2	2	1	4	3	3	2	0	0	3	2	0	0	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:120922456G>A	ENST00000263713.5	+	22	2146	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	EPB41L5_ENST00000452780.1_Silent_p.E644E|EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000443902.2_Silent_p.E644E	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	644					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CTCTAACTGAGAATCTAATTG	0.353																																																	0													118	112	114					2																	120922456		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1932G>A	2.37:g.120922456G>A			Q7Z5S1|Q8IZ12|Q9H975	Silent	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.E644	ENST00000263713.5	37	c.1932	CCDS2130.1	2																																																																																			EPB41L5	-	NULL	ENSG00000115109		0.353	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	-	0	40	0	G	NM_020909		120922456	1	tier1	-	no_errors	ENST00000263713	ensembl	human	known	74_37	silent	85.00	3	17	SNP	1.000	A	A	120922456	G	A	120922456	2	1	110	1	0	0	0	0	0	0	0	1	5173	933	33	3		3	EPB41L5	2	120922456	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	23913544	120922456	122276917	31	29834											
UGGT1	56886	genome.wustl.edu	37	chr2	128877948	128877948	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagatctgcaccccgacctGgagggacagttgaaagaact	13	6	12	10	1	1	3	0	1	1	2	1	7	1	5	3	2	2	2	3	2	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:128877948G>T	ENST00000259253.6	+	9	938	c.891G>T	c.(889-891)ctG>ctT	p.L297L	RN7SL206P_ENST00000580933.1_RNA|UGGT1_ENST00000375990.3_Silent_p.L273L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	297					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCCCGACCTGGAGGGACAGT	0.393																																																	0													128	132	131					2																	128877948		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.891G>T	2.37:g.128877948G>T			Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	pfam_UDP-g_GGtrans	p.L297	ENST00000259253.6	37	c.891	CCDS2154.1	2																																																																																			UGGT1	-	NULL	ENSG00000136731		0.393	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	49	0	G	NM_020120		128877948	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	silent	85.71	3	18	SNP	0.943	T	T	128877948	G	T	128877948	2	4	110	1	0	0	0	0	0	0	0	1	16990	1335	47	3		3	UGGT1	2	128877948	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	7955492	128877948	114321425	32	29835											
UGGT1	56886	genome.wustl.edu	37	chr2	128914889	128914889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatagcccttctggacGgcagttactgtatgatgcca	8	14	10	9	1	1	2	0	2	1	0	1	3	1	3	2	2	3	3	2	2	3	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:128914889G>T	ENST00000259253.6	+	22	2371	c.2324G>T	c.(2323-2325)cGg>cTg	p.R775L	UGGT1_ENST00000375990.3_Missense_Mutation_p.R751L	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	775					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTCTGGACGGCAGTTACTG	0.388																																																	0													153	142	146					2																	128914889		2203	4300	6503	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"UDP-glucose ceramide glucosyltransferase-like 1"	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.2324G>T	2.37:g.128914889G>T	ENSP00000259253:p.Arg775Leu		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.R775L	ENST00000259253.6	37	c.2324	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.641417	0.96704	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.29655	1.56;1.56	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.84082	2.675	0.80722	D	1	P;B	0.36438	0.553;0.238	B;B	0.37650	0.255;0.069	T	0.40776	-0.9545	9	.	.	.	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	751;775	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	L	751;775	ENSP00000365158:R751L;ENSP00000259253:R775L	.	R	+	2	0	UGGT1	128631359	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.188000	0.94921	2.857000	0.98124	0.650000	0.86243	CGG	UGGT1	-	NULL	ENSG00000136731		0.388	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2	-	0	107	0	G	NM_020120		128914889	1	tier1	-	no_errors	ENST00000259253	ensembl	human	known	74_37	missense	81.25	12	52	SNP	1.000	T	T	128914889	G	T	128914889	3	4	110	1	0	0	0	0	1	0	0	0	16990	1116	39	2	2410	2	UGGT1	2	128914889	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	36941	128914889	114284484	33	29836											
LRP1B	53353	genome.wustl.edu	37	chr2	141816620	141816620	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttataccataaagatgtcTaacctataaagagggcaaaa	19	9	7	6	0	1	2	0	0	1	2	1	2	1	2	2	1	2	2	2	1	10	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:141816620T>A	ENST00000389484.3	-	9	2211	c.1240A>T	c.(1240-1242)Aga>Tga	p.R414*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	414					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAAAGATGTCTAACCTATAAA	0.308										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													71	74	73					2																	141816620		2202	4292	6494	SO:0001587	stop_gained	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1240A>T	2.37:g.141816620T>A	ENSP00000374135:p.Arg414*		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R414*	ENST00000389484.3	37	c.1240	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	47	13.119373	0.99721	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.83	5.83	0.93111	.	0.507764	0.20176	U	0.097631	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	16.194	0.82011	0.0:0.0:0.0:1.0	.	.	.	.	X	414;352	.	ENSP00000374135:R414X	R	-	1	2	LRP1B	141533090	0.985000	0.35326	1.000000	0.80357	0.773000	0.43773	2.024000	0.41049	2.225000	0.72522	0.460000	0.39030	AGA	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0	16	0	T	NM_018557		141816620	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	nonsense	70.00	3	7	SNP	0.956	A	A	141816620	T	A	141816620	4	1	110	1	0	0	0	0	0	1	0	0	8990	1530	53	5	12891	5	LRP1B	2	141816620	Nonsense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	12901731	141816620	101382753	34	29837											
HOXD3	3232	genome.wustl.edu	37	chr2	177034035	177034035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggacactgactatccaGgttctgcctgctccatccag	7	10	8	16	0	1	1	0	1	1	0	4	2	4	2	5	2	2	2	5	2	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:177034035G>T	ENST00000468418.3	+	3	2283	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C	HOXD3_ENST00000410016.1_Missense_Mutation_p.G65C|HOXD3_ENST00000249440.3_Missense_Mutation_p.G65C			P31249	HXD3_HUMAN	homeobox D3	65					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		TGACTATCCAGGTTCTGCCTG	0.617																																																	0													72	72	72					2																	177034035		2203	4300	6503	SO:0001583	missense	0				CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"Homeoboxes / ANTP class : HOXL subclass"	5137	protein-coding gene	gene with protein product		142980	"homeo box D3"	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.193G>T	2.37:g.177034035G>T	ENSP00000424734:p.Gly65Cys		Q99955|Q9BSC5	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.G65C	ENST00000468418.3	37	c.193	CCDS2270.1	2	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472673	0.43942	.	.	ENSG00000128652	ENST00000432796;ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.89810	-2.57;-2.57;-2.57	5.48	3.66	0.41972	.	0.142993	0.64402	D	0.000004	D	0.89298	0.6675	L	0.55481	1.735	0.33371	D	0.573537	D	0.67145	0.996	P	0.54372	0.75	D	0.90883	0.4755	10	0.66056	D	0.02	.	8.9753	0.35932	0.2286:0.0:0.7714:0.0	.	65	P31249	HXD3_HUMAN	C	65	ENSP00000424734:G65C;ENSP00000386498:G65C;ENSP00000249440:G65C	ENSP00000249440:G65C	G	+	1	0	HOXD3	176742281	0.008000	0.16893	0.709000	0.30452	0.986000	0.74619	0.111000	0.15458	0.773000	0.33404	0.655000	0.94253	GGT	HOXD3	-	NULL	ENSG00000128652		0.617	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	HOXD3	HGNC	protein_coding	OTTHUMT00000334246.4	-	0	47	0	G			177034035	1	tier1	-	no_errors	ENST00000249440	ensembl	human	known	74_37	missense	88.89	4	32	SNP	0.945	T	T	177034035	G	T	177034035	3	4	110	1	0	0	0	0	1	0	0	0	7350	1000	35	3	195	3	HOXD3	2	177034035	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	35217415	177034035	66165338	35	29838											
TTN	7273	genome.wustl.edu	37	chr2	179579779	179579779	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggctttacactgatattCcccaatgtctgcagcatcga	9	13	8	11	1	1	1	0	1	1	0	3	2	2	1	2	1	3	3	2	1	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:179579779C>A	ENST00000591111.1	-	88	25407	c.25183G>T	c.(25183-25185)Gaa>Taa	p.E8395*	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E8712*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E7468*			Q8WZ42	TITIN_HUMAN	titin	12568	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGATATTCCCCAATGTCT	0.453																																																	0													262	254	256					2																	179579779		2011	4177	6188	SO:0001587	stop_gained	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25183G>T	2.37:g.179579779C>A	ENSP00000465570:p.Glu8395*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E7468*	ENST00000591111.1	37	c.22402		2	.	.	.	.	.	.	.	.	.	.	C	59	35.827047	0.99983	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	.	.	.	X	7468	.	ENSP00000343764:E7468X	E	-	1	0	TTN	179288024	0.327000	0.24678	0.997000	0.53966	0.435000	0.31806	1.884000	0.39668	2.813000	0.96785	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.453	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	27	0	C	NM_133378		179579779	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	91.67	2	22	SNP	1.000	A	A	179579779	C	A	179579779	4	1	110	1	0	0	0	0	0	1	0	0	16784	864	30	3	78487	3	TTN	2	179579779	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2545744	179579779	63619594	36	29839											
TTN	7273	genome.wustl.edu	37	chr2	179631333	179631333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaacagcacgctgtttctCaatgacctgttgatggaaca	13	10	8	10	1	1	2	1	2	1	0	2	3	1	3	1	1	4	4	1	1	4	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:179631333C>T	ENST00000591111.1	-	41	9702	c.9478G>A	c.(9478-9480)Gag>Aag	p.E3160K	TTN_ENST00000342175.6_Missense_Mutation_p.E3114K|TTN_ENST00000359218.5_Missense_Mutation_p.E3114K|TTN_ENST00000460472.2_Missense_Mutation_p.E3114K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E3160K|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E3160K|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E3160K			Q8WZ42	TITIN_HUMAN	titin	13492					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTGTTTCTCAATGACCTGT	0.373																																																	0													85	76	79					2																	179631333		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9478G>A	2.37:g.179631333C>T	ENSP00000465570:p.Glu3160Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E3160K	ENST00000591111.1	37	c.9478		2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690784	0.68271	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37598	0.1009	M	0.87971	2.92	0.41188	D	0.986283	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.30851	-0.9964	9	0.87932	D	0	.	19.8277	0.96624	0.0:1.0:0.0:0.0	.	3114;3114;3114;3160;3160	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	3160;3114;3114;3114;3114;3160	ENSP00000343764:E3160K;ENSP00000434586:E3114K;ENSP00000340554:E3114K;ENSP00000352154:E3114K;ENSP00000354117:E3160K	ENSP00000340554:E3114K	E	-	1	0	TTN	179339578	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.485000	0.81204	2.695000	0.91970	0.591000	0.81541	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	19	0	C	NM_133378		179631333	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	75.00	4	12	SNP	1.000	T	T	179631333	C	T	179631333	3	4	110	1	0	0	0	0	1	0	0	0	16784	835	29	3	101798	3	TTN	2	179631333	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	51554	179631333	63568040	37	29840											
SMARCAL1	50485	genome.wustl.edu	37	chr2	217280027	217280027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaaagcctccccttcGgggcagaacatttcttacat	12	9	7	13	1	1	1	0	0	1	1	3	1	2	1	3	2	4	2	3	2	4	3	rs530505647		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:217280027G>A	ENST00000357276.4	+	3	930	c.600G>A	c.(598-600)tcG>tcA	p.S200S	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Silent_p.S200S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	200					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCTCCCCTTCGGGGCAGAACA	0.522									Schimke Immuno-Osseous Dysplasia				G|||	1	0.000199681	0	0	5008	,	,		18945	0.001		0	False		,,,				2504	0																0													71	71	71					2																	217280027		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"HepA-related protein", "ATP-driven annealing helicase"	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.600G>A	2.37:g.217280027G>A			A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Silent	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S200	ENST00000357276.4	37	c.600	CCDS2403.1	2																																																																																			SMARCAL1	-	NULL	ENSG00000138375		0.522	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	-	0	24	0	G			217280027	1	tier1	-	no_errors	ENST00000357276	ensembl	human	known	74_37	silent	41.18	30	21	SNP	0.000	A	A	217280027	G	A	217280027	2	1	110	1	0	0	0	0	0	0	0	1	14818	1103	39	1		1	SMARCAL1	2	217280027	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	37648694	217280027	25919346	38	29841											
CHPF	79586	genome.wustl.edu	37	chr2	220404662	220404662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgcagtggtgagggtgCggctgtctgcacactgagcc	6	7	18	10	2	1	2	0	2	1	0	1	3	1	2	1	4	3	3	1	4	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:220404662C>T	ENST00000243776.6	-	4	2019	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	CHPF_ENST00000535926.1_Missense_Mutation_p.A429T	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	591					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTGAGGGTGCGGCTGTCTGC	0.647																																																	0													47	52	51					2																	220404662		2203	4299	6502	SO:0001583	missense	0			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"Beta 3-glycosyltransferases", "Beta 4-glycosyltransferases"	24291	protein-coding gene	gene with protein product	"chondroitin sulfate synthase 2"	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1771G>A	2.37:g.220404662C>T	ENSP00000243776:p.Ala591Thr		B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.A591T	ENST00000243776.6	37	c.1771	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	C	9.917	1.211180	0.22289	.	.	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15487	2.42;2.42	4.62	3.73	0.42828	.	0.362631	0.28647	N	0.014618	T	0.10121	0.0248	N	0.16478	0.41	0.23542	N	0.997452	B	0.30664	0.289	B	0.25987	0.065	T	0.23762	-1.0179	10	0.20519	T	0.43	-7.815	13.4761	0.61310	0.0:0.9232:0.0:0.0768	.	591	Q8IZ52	CHSS2_HUMAN	T	591;429	ENSP00000243776:A591T;ENSP00000445571:A429T	ENSP00000243776:A591T	A	-	1	0	CHPF	220112906	0.354000	0.24912	0.010000	0.14722	0.492000	0.33523	3.773000	0.55333	1.295000	0.44724	0.561000	0.74099	GCA	CHPF	-	pfam_Chond_GalNAc	ENSG00000123989		0.647	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1		0	46	0	C	NM_024536		220404662	-1			no_errors	ENST00000243776	ensembl	human	known	74_37	missense	8.11	34	3	SNP	0.352	T	T	220404662	C	T	220404662	3	4	110	1	0	0	0	0	1	0	0	0	3375	768	27	1	560	1	CHPF	2	220404662	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	3124635	220404662	22794711	39	29842											
SP140L	93349	genome.wustl.edu	37	chr2	231249995	231249995	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagaaggcgaacatgaatCtgaaagacctttccaagatt	18	8	8	7	1	1	5	0	2	1	3	2	6	2	5	2	1	1	0	2	1	7	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr2:231249995C>G	ENST00000415673.2	+	9	846	c.760C>G	c.(760-762)Ctg>Gtg	p.L254V	SP140L_ENST00000396563.4_Missense_Mutation_p.L254V|SP140L_ENST00000243810.6_Missense_Mutation_p.L254V|SP140L_ENST00000444636.1_Missense_Mutation_p.L254V	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	254						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAACATGAATCTGAAAGACCT	0.448																																																	0													107	107	107					2																	231249995		1873	4108	5981	SO:0001583	missense	0			BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"Zinc fingers, PHD-type"	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.760C>G	2.37:g.231249995C>G	ENSP00000397911:p.Leu254Val		Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain	p.L254V	ENST00000415673.2	37	c.760	CCDS46538.1	2	.	.	.	.	.	.	.	.	.	.	C	4.475	0.088019	0.08583	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;T;D;D	0.83837	-1.5;-1.11;-1.5;-1.77	2.24	1.32	0.21799	.	.	.	.	.	D	0.85936	0.5813	L	0.61218	1.895	0.09310	N	1	D;D	0.76494	0.999;0.988	D;P	0.73708	0.981;0.835	T	0.72962	-0.4132	9	0.21540	T	0.41	.	6.0085	0.19559	0.3071:0.6929:0.0:0.0	.	254;254	Q9H930-2;Q9H930-4	.;.	V	254	ENSP00000395195:L254V;ENSP00000397911:L254V;ENSP00000243810:L254V;ENSP00000379811:L254V	ENSP00000243810:L254V	L	+	1	2	SP140L	230958239	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.848000	0.27710	0.477000	0.27464	-0.282000	0.10007	CTG	SP140L	-	NULL	ENSG00000185404		0.448	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SP140L	HGNC	protein_coding	OTTHUMT00000374538.1	-	0	25	0	C	NM_138402		231249995	1	tier1	-	no_errors	ENST00000415673	ensembl	human	known	74_37	missense	50.00	28	28	SNP	0.001	G	G	231249995	C	G	231249995	3	3	110	1	0	0	0	0	1	0	0	0	15008	912	32	5	794	5	SP140L	2	231249995	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	10845333	231249995	11949378	40	29843											
GRM7	2917	genome.wustl.edu	37	chr3	7188296	7188296	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtgtctaccctcgcatCggaaggaagttatggagaga	11	11	12	7	2	1	1	0	0	1	1	3	5	1	4	1	3	1	2	1	3	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:7188296C>A	ENST00000357716.4	+	2	951	c.677C>A	c.(676-678)tCg>tAg	p.S226*	GRM7_ENST00000389336.4_Nonsense_Mutation_p.S226*|GRM7_ENST00000403881.1_Nonsense_Mutation_p.S226*|GRM7_ENST00000486284.1_Nonsense_Mutation_p.S226*|GRM7_ENST00000402647.2_Nonsense_Mutation_p.S226*	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	226					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ACCCTCGCATCGGAAGGAAGT	0.512																																																	0													97	94	95					3																	7188296		2203	4300	6503	SO:0001587	stop_gained	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.677C>A	3.37:g.7188296C>A	ENSP00000350348:p.Ser226*		Q8NFS2|Q8NFS3|Q8NFS4	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.S226*	ENST00000357716.4	37	c.677	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567668	0.65651	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	.	.	.	5.87	5.87	0.94306	.	0.124433	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1458	0.93467	0.0:1.0:0.0:0.0	.	.	.	.	X	18;226;226;226;226;226;226;226	.	ENSP00000350348:S226X	S	+	2	0	GRM7	7163296	1.000000	0.71417	0.988000	0.46212	0.422000	0.31414	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	TCG	GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000196277		0.512	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0	39	0	C	NM_000844		7188296	1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	nonsense	84.38	5	27	SNP	1.000	A	A	7188296	C	A	7188296	4	1	110	1	0	0	0	0	0	1	0	0	6829	893	31	2	683	2	GRM7	3	7188296	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		7188296	190834134	41	29844											
GRM7	2917	genome.wustl.edu	37	chr3	7456848	7456848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacagatcgcaaatgcaCaggtaatttaattctcgttg	14	11	8	8	2	1	2	0	0	1	2	3	2	1	2	0	1	1	4	0	1	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:7456848C>A	ENST00000357716.4	+	5	1446	c.1172C>A	c.(1171-1173)aCa>aAa	p.T391K	GRM7_ENST00000389336.4_Missense_Mutation_p.T391K|GRM7_ENST00000403881.1_Missense_Mutation_p.T391K|GRM7_ENST00000486284.1_Missense_Mutation_p.T391K|GRM7_ENST00000402647.2_Missense_Mutation_p.T391K	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	391					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CGCAAATGCACAGGTAATTTA	0.423																																																	0													84	79	81					3																	7456848		2203	4300	6503	SO:0001583	missense	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1172C>A	3.37:g.7456848C>A	ENSP00000350348:p.Thr391Lys		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.T391K	ENST00000357716.4	37	c.1172	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600993	0.66332	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492;ENST00000445087	D;D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24;-2.24	5.81	4.93	0.64822	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	M	0.81497	2.545	0.51233	D	0.999911	P;P;P	0.42078	0.728;0.77;0.521	B;B;B	0.40410	0.297;0.327;0.328	D	0.89711	0.3912	10	0.72032	D	0.01	.	15.4172	0.74980	0.1401:0.8599:0.0:0.0	.	391;391;391	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	K	391;391;391;391;391;391;391;48	ENSP00000350348:T391K;ENSP00000417536:T391K;ENSP00000373987:T391K;ENSP00000385664:T391K;ENSP00000384585:T391K;ENSP00000395035:T48K	ENSP00000350348:T391K	T	+	2	0	GRM7	7431848	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.701000	0.84566	1.585000	0.49928	0.655000	0.94253	ACA	GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000196277		0.423	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0	56	0	C	NM_000844		7456848	1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	missense	86.11	5	31	SNP	1.000	A	A	7456848	C	A	7456848	3	1	110	1	0	0	0	0	1	0	0	0	6829	478	17	3	1190	3	GRM7	3	7456848	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	268552	7456848	190565582	42	29845											
PRRT3	285368	genome.wustl.edu	37	chr3	9991025	9991025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctgagagtacaccacctCaactgggggtactgagccaa	11	7	10	13	0	1	2	1	2	0	1	2	3	2	2	4	2	4	2	4	2	4	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:9991025C>T	ENST00000412055.1	-	2	904	c.775G>A	c.(775-777)Gag>Aag	p.E259K	PRRT3_ENST00000411976.2_Missense_Mutation_p.E259K|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	259	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TACACCACCTCAACTGGGGGT	0.617																																																	0													42	49	47					3																	9991025		2108	4258	6366	SO:0001583	missense	0			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"Proline-rich transmembrane proteins"	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.775G>A	3.37:g.9991025C>T	ENSP00000392511:p.Glu259Lys		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	NULL	p.E259K	ENST00000412055.1	37	c.775	CCDS43049.1	3	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709991	0.30322	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.20738	2.33;2.05	3.62	2.72	0.32119	.	0.336327	0.21689	N	0.070618	T	0.12178	0.0296	N	0.24115	0.695	0.24412	N	0.994652	B;B	0.30709	0.291;0.015	B;B	0.31191	0.125;0.018	T	0.21143	-1.0254	9	.	.	.	-15.1133	7.5074	0.27553	0.0:0.8792:0.0:0.1208	.	259;259	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	K	259	ENSP00000392511:E259K;ENSP00000404512:E259K	.	E	-	1	0	PRRT3	9966025	0.139000	0.22563	0.026000	0.17262	0.031000	0.12232	0.533000	0.23082	1.070000	0.40811	0.650000	0.86243	GAG	PRRT3	-	NULL	ENSG00000163704		0.617	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT3	HGNC	protein_coding	OTTHUMT00000339322.1	-	0	25	0	C	NM_207351		9991025	-1	tier1	-	no_errors	ENST00000295984	ensembl	human	known	74_37	missense	82.35	3	14	SNP	0.729	T	T	9991025	C	T	9991025	3	4	110	1	0	0	0	0	1	0	0	0	12653	835	29	3	2182	3	PRRT3	3	9991025	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2534177	9991025	188031405	43	29846											
ATP2B2	491	genome.wustl.edu	37	chr3	10392245	10392245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcccgctggcacttgCggatggcttctgggacctgg	3	10	15	13	2	1	0	0	0	1	0	1	2	1	2	3	5	3	3	3	5	0	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:10392245C>A	ENST00000352432.4	-	14	2222	c.2153G>T	c.(2152-2154)cGc>cTc	p.R718L	ATP2B2_ENST00000360273.2_Missense_Mutation_p.R718L|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R704L|ATP2B2_ENST00000383800.4_Missense_Mutation_p.R673L|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R673L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	718					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGGCACTTGCGGATGGCTTC	0.642																																					Ovarian(125;1619 1709 15675 19819 38835)												0													62	58	59					3																	10392245		2203	4300	6503	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2153G>T	3.37:g.10392245C>A	ENSP00000324172:p.Arg718Leu		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.R718L	ENST00000352432.4	37	c.2153	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866102	0.51588	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9	4.18	4.18	0.49190	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.114225	0.56097	D	0.000024	D	0.92795	0.7709	L	0.38838	1.175	0.54753	D	0.999986	B;B;B	0.16603	0.001;0.015;0.018	B;B;B	0.25405	0.005;0.06;0.05	D	0.90574	0.4524	10	0.52906	T	0.07	-14.9218	16.8604	0.86016	0.0:1.0:0.0:0.0	.	653;685;718	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	L	718;673;673;718;704;653;574;718	ENSP00000324172:R718L;ENSP00000373311:R673L;ENSP00000380267:R673L;ENSP00000353414:R718L;ENSP00000344677:R704L;ENSP00000414854:R574L	ENSP00000342954:R718L	R	-	2	0	ATP2B2	10367245	0.069000	0.21087	1.000000	0.80357	0.997000	0.91878	1.079000	0.30766	2.022000	0.59522	0.491000	0.48974	CGC	ATP2B2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000157087		0.642	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	-	0	35	0	C	NM_001683		10392245	-1	tier1	-	no_errors	ENST00000352432	ensembl	human	known	74_37	missense	95.83	1	23	SNP	1.000	A	A	10392245	C	A	10392245	3	1	110	1	0	0	0	0	1	0	0	0	1141	768	27	2	1614	2	ATP2B2	3	10392245	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	401220	10392245	187630185	44	29847											
RFTN1	23180	genome.wustl.edu	37	chr3	16419499	16419499	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatctctggcatcctcGgtgctgttggcagtagacac	6	13	11	11	1	1	1	0	0	1	1	4	1	2	1	1	3	2	6	1	3	1	3	rs371329309		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:16419499G>T	ENST00000334133.4	-	5	824	c.552C>A	c.(550-552)acC>acA	p.T184T	RFTN1_ENST00000432519.1_Silent_p.T148T	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	184					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TGGCATCCTCGGTGCTGTTGG	0.567																																																	0													78	72	74					3																	16419499		2203	4300	6503	SO:0001819	synonymous_variant	0			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"raft-linking protein"					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.552C>A	3.37:g.16419499G>T			Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	NULL	p.T184	ENST00000334133.4	37	c.552	CCDS33712.1	3																																																																																			RFTN1	-	NULL	ENSG00000131378		0.567	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFTN1	HGNC	protein_coding	OTTHUMT00000346908.1	-	0	20	0	G	NM_015150		16419499	-1	tier1	-	no_errors	ENST00000334133	ensembl	human	known	74_37	silent	91.67	1	11	SNP	0.000	T	T	16419499	G	T	16419499	2	4	110	1	0	0	0	0	0	0	0	1	13303	1103	39	2		2	RFTN1	3	16419499	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	6027254	16419499	181602931	45	29848											
ZNF445	353274	genome.wustl.edu	37	chr3	44491967	44491967	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgttcctataattctcCagcatcacatccctgtacag	10	12	5	14	0	2	0	1	0	1	0	5	0	4	0	4	0	2	3	4	0	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:44491967C>A	ENST00000396077.2	-	6	1139	c.792G>T	c.(790-792)ctG>ctT	p.L264L	ZNF445_ENST00000425708.2_Silent_p.L264L	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	264	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TATAATTCTCCAGCATCACAT	0.493																																																	0													141	122	129					3																	44491967		2203	4300	6503	SO:0001819	synonymous_variant	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"Zinc fingers, C2H2-type", "-", "-", "-"	21018	protein-coding gene	gene with protein product			"zinc finger protein 168"	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.792G>T	3.37:g.44491967C>A			Q3MJD1	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.L264	ENST00000396077.2	37	c.792	CCDS2713.1	3																																																																																			ZNF445	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000185219		0.493	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	-	0	62	0	C	NM_181489		44491967	-1	tier1	-	no_errors	ENST00000396077	ensembl	human	known	74_37	silent	78.26	10	36	SNP	1.000	A	A	44491967	C	A	44491967	2	1	110	1	0	0	0	0	0	0	0	1	17966	581	21	3		3	ZNF445	3	44491967	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	28072468	44491967	153530463	46	29849											
DNAH12	201625	genome.wustl.edu	37	chr3	57431006	57431006	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgtaatgaaattgcgatgaGagctgctctgagcaaagcct	12	10	11	8	2	1	3	0	3	1	1	2	5	1	3	1	0	5	4	1	0	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:57431006G>A	ENST00000351747.2	-	28	4431	c.4251C>T	c.(4249-4251)ctC>ctT	p.L1417L		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1417	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATTGCGATGAGAGCTGCTCTG	0.398																																																	0													59	51	54					3																	57431006		692	1591	2283	SO:0001819	synonymous_variant	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.4251C>T	3.37:g.57431006G>A			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L1417	ENST00000351747.2	37	c.4251		3																																																																																			DNAH12	-	superfamily_P-loop_NTPase	ENSG00000174844		0.398	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		-	0	39	0	G	NM_178504		57431006	-1	tier1	-	no_errors	ENST00000351747	ensembl	human	known	74_37	silent	95.24	2	40	SNP	0.961	A	A	57431006	G	A	57431006	2	1	110	1	0	0	0	0	0	0	0	1	4614	929	33	3		3	DNAH12	3	57431006	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	12939039	57431006	140591424	47	29850											
TMEM39A	55254	genome.wustl.edu	37	chr3	119156763	119156763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggggatgggtgtggCattattaaactgttctttta	7	16	15	3	0	1	0	0	0	1	0	1	1	1	1	0	5	1	2	0	5	4	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:119156763C>T	ENST00000319172.5	-	6	1183	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	TMEM39A_ENST00000486159.1_5'Flank	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	255						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ATGGGTGTGGCATTATTAAAC	0.483																																																	0													93	89	91					3																	119156763		2203	4300	6503	SO:0001583	missense	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.763G>A	3.37:g.119156763C>T	ENSP00000326063:p.Ala255Thr		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	pfam_Uncharacterised_TMEM39	p.A255T	ENST00000319172.5	37	c.763	CCDS2987.1	3	.	.	.	.	.	.	.	.	.	.	C	9.712	1.157424	0.21454	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.43294	0.95	5.5	2.73	0.32206	.	0.411718	0.29307	N	0.012524	T	0.16085	0.0387	N	0.04636	-0.2	0.31366	N	0.680749	B	0.02656	0.0	B	0.01281	0.0	T	0.20571	-1.0271	10	0.11485	T	0.65	-0.0358	5.4248	0.16419	0.0:0.5475:0.1471:0.3054	.	255	Q9NV64	TM39A_HUMAN	T	255;101	ENSP00000326063:A255T	ENSP00000326063:A255T	A	-	1	0	TMEM39A	120639453	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.831000	0.27476	0.280000	0.22209	0.650000	0.86243	GCC	TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.483	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3	-	0	46	0	C	NM_018266		119156763	-1	tier1	-	no_errors	ENST00000319172	ensembl	human	known	74_37	missense	96.43	1	27	SNP	0.988	T	T	119156763	C	T	119156763	3	4	110	1	0	0	0	0	1	0	0	0	16208	710	25	3	719	3	TMEM39A	3	119156763	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	61725757	119156763	78865667	48	29851											
MYLK	4638	genome.wustl.edu	37	chr3	123419172	123419172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttggcattgcccatgggcTtcagggtctcggcaggcttg	4	11	15	11	1	2	0	1	0	1	0	3	0	2	0	1	5	1	5	1	5	0	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:123419172T>C	ENST00000475616.1	-	15	3142	c.3143A>G	c.(3142-3144)aAg>aGg	p.K1048R	MYLK_ENST00000360304.3_Missense_Mutation_p.K1048R|MYLK_ENST00000359169.1_Missense_Mutation_p.K1048R|MYLK_ENST00000346322.5_Missense_Mutation_p.K979R|MYLK_ENST00000360772.3_Missense_Mutation_p.K1048R|MYLK_ENST00000510775.1_5'Flank			Q15746	MYLK_HUMAN	myosin light chain kinase	1048	6 X 12 AA approximate tandem repeats.			KPM -> EAH (in Ref. 1; CAA59685 and 8; BAB21504). {ECO:0000305}.	actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCCATGGGCTTCAGGGTCTC	0.542																																																	0													214	222	219					3																	123419172		2203	4300	6503	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3143A>G	3.37:g.123419172T>C	ENSP00000418335:p.Lys1048Arg		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.K1048R	ENST00000475616.1	37	c.3143	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	T	7.032	0.560862	0.13498	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68624	-0.34;-0.29;-0.34;-0.29;-0.29	5.64	4.47	0.54385	.	.	.	.	.	T	0.75102	0.3804	M	0.77103	2.36	0.09310	N	0.999997	D;P;D;B;D;B	0.62365	0.982;0.804;0.98;0.136;0.991;0.166	P;B;P;B;P;B	0.56434	0.763;0.371;0.718;0.068;0.798;0.047	T	0.64188	-0.6466	9	0.24483	T	0.36	.	9.799	0.40753	0.0:0.0:0.1731:0.8269	.	1048;126;979;1048;979;1048	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	R	1048;1048;1048;979;1048	ENSP00000354004:K1048R;ENSP00000353452:K1048R;ENSP00000352088:K1048R;ENSP00000320622:K979R;ENSP00000418335:K1048R	ENSP00000320622:K979R	K	-	2	0	MYLK	124901862	0.364000	0.24997	0.028000	0.17463	0.089000	0.18198	1.434000	0.34958	0.952000	0.37798	0.379000	0.24179	AAG	MYLK	-	NULL	ENSG00000065534		0.542	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	HGNC	protein_coding	OTTHUMT00000356464.1	-	0	48	0	T	NM_053025		123419172	-1	tier1	-	no_errors	ENST00000360304	ensembl	human	known	74_37	missense	59.26	11	16	SNP	0.003	C	C	123419172	T	C	123419172	3	2	110	1	0	0	0	0	1	0	0	0	10094	1609	56	4	2669	4	MYLK	3	123419172	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	4262409	123419172	74603258	49	29852											
PLXND1	23129	genome.wustl.edu	37	chr3	129288754	129288754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggccgtctcgctgcccCccagctgcagtgtggcgatg	4	9	14	14	3	1	1	0	1	1	0	2	2	1	1	4	2	3	3	4	2	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:129288754C>G	ENST00000324093.4	-	20	3975	c.3797G>C	c.(3796-3798)gGg>gCg	p.G1266A	PLXND1_ENST00000393239.1_Missense_Mutation_p.G1266A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1266					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CTCGCTGCCCCCCAGCTGCAG	0.587																																					Ovarian(97;366 1484 3738 22084 39045)												0													91	77	82					3																	129288754		2203	4300	6503	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3797G>C	3.37:g.129288754C>G	ENSP00000317128:p.Gly1266Ala		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G1266A	ENST00000324093.4	37	c.3797	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600630	0.28534	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.33865	1.45;1.39	3.94	3.94	0.45596	.	0.726583	0.12525	N	0.461327	T	0.21674	0.0522	L	0.31294	0.92	0.52501	D	0.999959	P	0.38535	0.635	B	0.27608	0.081	T	0.04976	-1.0914	10	0.15499	T	0.54	.	12.1235	0.53905	0.0:0.827:0.173:0.0	.	1266	Q9Y4D7	PLXD1_HUMAN	A	1266	ENSP00000317128:G1266A;ENSP00000376931:G1266A	ENSP00000317128:G1266A	G	-	2	0	PLXND1	130771444	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.301000	0.65727	2.052000	0.61016	0.467000	0.42956	GGG	PLXND1	-	NULL	ENSG00000004399		0.587	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0	17	0	C	NM_015103		129288754	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	77.78	2	7	SNP	0.993	G	G	129288754	C	G	129288754	3	3	110	1	0	0	0	0	1	0	0	0	12166	623	22	5	2048	5	PLXND1	3	129288754	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	5869582	129288754	68733676	50	29853											
COL6A5	256076	genome.wustl.edu	37	chr3	130116450	130116450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttatggacatagtggttGggtttgacatctccactcat	8	15	10	8	0	2	1	1	1	1	0	3	2	2	2	1	3	0	3	1	3	2	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:130116450G>T	ENST00000432398.2	+	9	4086	c.3592G>T	c.(3592-3594)Ggg>Tgg	p.G1198W	COL6A5_ENST00000265379.6_Missense_Mutation_p.G1198W	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1198	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CATAGTGGTTGGGTTTGACAT	0.493																																																	0													25	25	25					3																	130116450		692	1591	2283	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"Collagens"	26674	protein-coding gene	gene with protein product	"von Willebrand factor A domain containing 4"	611916	"collagen, type XXIX, alpha 1"	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3592G>T	3.37:g.130116450G>T	ENSP00000390895:p.Gly1198Trp		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1198W	ENST00000432398.2	37	c.3592		3	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330107	0.24167	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.38077	1.16;1.16	5.25	4.38	0.52667	.	.	.	.	.	T	0.54695	0.1874	M	0.68593	2.085	0.36466	D	0.866989	D	0.89917	1.0	D	0.97110	1.0	T	0.63506	-0.6622	9	0.59425	D	0.04	.	9.4584	0.38769	0.166:0.0:0.834:0.0	.	1198	A8TX70-2	.	W	1198	ENSP00000390895:G1198W;ENSP00000265379:G1198W	ENSP00000265379:G1198W	G	+	1	0	COL6A5	131599140	1.000000	0.71417	0.924000	0.36721	0.210000	0.24377	4.910000	0.63321	1.204000	0.43247	0.561000	0.74099	GGG	COL6A5	-	NULL	ENSG00000172752		0.493	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		-	0	22	0	G	NM_153264		130116450	1	tier1	-	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	91.67	1	11	SNP	0.996	T	T	130116450	G	T	130116450	3	4	110	1	0	0	0	0	1	0	0	0	3709	1348	47	3	3622	3	COL6A5	3	130116450	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	827696	130116450	67905980	51	29854											
PRR23A	729627	genome.wustl.edu	37	chr3	138724356	138724356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcacggagggcgtttcGggagcggcgggtgcgcgtgg	3	7	21	10	7	0	0	0	0	0	0	1	2	0	2	1	6	3	2	1	6	0	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:138724356G>T	ENST00000383163.2	-	1	754	c.755C>A	c.(754-756)cCg>cAg	p.P252Q	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	252	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						AGGGCGTTTCGGGAGCGGCGG	0.647																																																	0													14	15	15					3																	138724356		692	1591	2283	SO:0001583	missense	0				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.755C>A	3.37:g.138724356G>T	ENSP00000372649:p.Pro252Gln			Missense_Mutation	SNP	pfam_UPF0572	p.P252Q	ENST00000383163.2	37	c.755	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460950	0.26248	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	1.42	0.22433	.	0.858023	0.09951	N	0.734649	T	0.56804	0.2010	M	0.68952	2.095	0.09310	N	1	D	0.71674	0.998	D	0.71414	0.973	T	0.39603	-0.9606	9	0.87932	D	0	.	5.3783	0.16178	0.2662:0.0:0.7338:0.0	.	252	A6NEV1	PR23A_HUMAN	Q	252	.	ENSP00000372649:P252Q	P	-	2	0	PRR23A	140207046	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.865000	0.27940	0.398000	0.25338	0.591000	0.81541	CCG	PRR23A	-	pfam_UPF0572	ENSG00000206260		0.647	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	HGNC	protein_coding	OTTHUMT00000361503.1	-	0	41	0	G	NM_001134659		138724356	-1	tier1	-	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	70.93	25	61	SNP	0.000	T	T	138724356	G	T	138724356	3	4	110	1	0	0	0	0	1	0	0	0	12636	1116	39	2	49	2	PRR23A	3	138724356	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	8607906	138724356	59298074	52	29855											
PLS1	5357	genome.wustl.edu	37	chr3	142395088	142395088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatacccatgaatcccaatGatgatagtcttttcaagtca	13	14	5	9	0	3	3	2	3	1	0	4	3	4	3	2	0	1	0	2	0	6	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:142395088G>A	ENST00000337777.3	+	5	667	c.454G>A	c.(454-456)Gat>Aat	p.D152N	PLS1_ENST00000457734.2_Missense_Mutation_p.D152N|PLS1_ENST00000497002.1_Missense_Mutation_p.D152N|RN7SKP25_ENST00000362449.1_RNA	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	152	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GAATCCCAATGATGATAGTCT	0.413																																																	0													199	180	187					3																	142395088		2203	4300	6503	SO:0001583	missense	0			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"EF-hand domain containing"	9090	protein-coding gene	gene with protein product		602734	"plastin 1 (I isoform)"			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.454G>A	3.37:g.142395088G>A	ENSP00000336831:p.Asp152Asn		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.D152N	ENST00000337777.3	37	c.454	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	G	8.626	0.892591	0.17613	.	.	ENSG00000120756	ENST00000457734;ENST00000476044;ENST00000337777;ENST00000497002	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	5.94	5.06	0.68205	Calponin homology domain (5);	0.138957	0.64402	D	0.000005	D	0.90974	0.7162	L	0.31845	0.965	0.35598	D	0.807672	B	0.06786	0.001	B	0.10450	0.005	D	0.86366	0.1720	10	0.02654	T	1	-18.2095	17.1615	0.86804	0.0:0.1264:0.8736:0.0	.	152	Q14651	PLSI_HUMAN	N	152;73;152;152	ENSP00000387890:D152N;ENSP00000417481:D73N;ENSP00000336831:D152N;ENSP00000418700:D152N	ENSP00000336831:D152N	D	+	1	0	PLS1	143877778	1.000000	0.71417	0.038000	0.18304	0.430000	0.31655	6.099000	0.71466	1.501000	0.48654	-0.310000	0.09108	GAT	PLS1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000120756		0.413	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	-	0	38	0	G	NM_002670		142395088	1	tier1	-	no_errors	ENST00000337777	ensembl	human	known	74_37	missense	18.06	59	13	SNP	0.463	A	A	142395088	G	A	142395088	3	1	110	1	0	0	0	0	1	0	0	0	12146	1290	45	3	468	3	PLS1	3	142395088	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3670732	142395088	55627342	53	29856											
FAM194A	131831	genome.wustl.edu	37	chr3	150421606	150421606	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcctcctcctccTcctctaactcctcctctgac	3	14	1	23	0	3	1	0	1	3	0	11	1	11	1	9	0	1	0	9	0	1	2	rs140978408		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:150421606T>A	ENST00000295910.6	-	1	132	c.80A>T	c.(79-81)gAg>gTg	p.E27V	FAM194A_ENST00000491361.1_5'UTR|RP11-103G8.2_ENST00000475393.1_RNA|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ctcctcctcctcctctaactc	0.632																																																	0													58	56	57					3																	150421606		2203	4300	6503	SO:0001583	missense	0																														ENST00000295910.6:c.80A>T	3.37:g.150421606T>A	ENSP00000295910:p.Glu27Val			Missense_Mutation	SNP	NULL	p.E27V	ENST00000295910.6	37	c.80	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	T	8.120	0.780671	0.16120	.	.	ENSG00000163645	ENST00000295910;ENST00000474463;ENST00000498386	T;T;T	0.58652	2.55;0.32;2.16	3.0	-4.76	0.03229	.	1.295330	0.05951	N	0.638762	T	0.32010	0.0815	N	0.14661	0.345	0.20873	N	0.999839	B	0.09022	0.002	B	0.08055	0.003	T	0.11470	-1.0586	10	0.48119	T	0.1	5.6736	0.9544	0.01382	0.293:0.1054:0.3302:0.2715	.	27	Q7L0X2	F194A_HUMAN	V	27	ENSP00000295910:E27V;ENSP00000419304:E27V;ENSP00000417780:E27V	ENSP00000295910:E27V	E	-	2	0	FAM194A	151904296	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.479000	0.06567	-1.024000	0.03338	-2.447000	0.00209	GAG	FAM194A	-	NULL	ENSG00000163645		0.632	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1		0	14	0	T			150421606	-1			no_errors	ENST00000295910	ensembl	human	known	74_37	missense	9.80	46	5	SNP	0.000	A	A	150421606	T	A	150421606	3	1	110	1	0	0	0	0	1	0	0	0	5545	1551	54	5	1967	5	FAM194A	3	150421606	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	8026518	150421606	47600824	54	29857											
DVL3	1857	genome.wustl.edu	37	chr3	183882071	183882071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagctggtgtcagctgaggGctcacacccagacccagccc	8	6	11	16	0	3	2	3	1	0	1	3	2	3	2	3	2	3	3	3	2	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr3:183882071G>A	ENST00000313143.3	+	3	496	c.248G>A	c.(247-249)gGc>gAc	p.G83D	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Missense_Mutation_p.G83D	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	83					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCAGCTGAGGGCTCACACCCA	0.582																																																	0													83	84	84					3																	183882071		2203	4300	6503	SO:0001583	missense	0			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"Dishevelled homologs"	3087	protein-coding gene	gene with protein product		601368	"dishevelled 3 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 3 (Drosophila)"			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.248G>A	3.37:g.183882071G>A	ENSP00000316054:p.Gly83Asp		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3	p.G83D	ENST00000313143.3	37	c.248	CCDS3253.1	3	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785493	0.70337	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04654	3.59;3.58	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00080	-1.2110	10	0.62326	D	0.03	-0.853	19.6224	0.95663	0.0:0.0:1.0:0.0	.	83;83	B4E3E5;Q92997	.;DVL3_HUMAN	D	83	ENSP00000316054:G83D;ENSP00000405885:G83D	ENSP00000316054:G83D	G	+	2	0	DVL3	185364765	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.773000	0.75006	2.630000	0.89119	0.655000	0.94253	GGC	DVL3	-	NULL	ENSG00000161202		0.582	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DVL3	HGNC	protein_coding	OTTHUMT00000346184.1	-	0	27	0	G	NM_004423		183882071	1	tier1	-	no_errors	ENST00000313143	ensembl	human	known	74_37	missense	83.75	13	67	SNP	1.000	A	A	183882071	G	A	183882071	3	1	110	1	0	0	0	0	1	0	0	0	4851	1203	42	3	258	3	DVL3	3	183882071	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	33460465	183882071	14140359	55	29858											
JAKMIP1	152789	genome.wustl.edu	37	chr4	6050609	6050610	+	Missense_Mutation	DNP	CC	CC	AA																															cacacagggcaagcacagttCcagcttggattattgcaacc																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:6050609_6050610CC>AA	ENST00000409021.3	-	16	2451_2452	c.2002_2003GG>TT	c.(2002-2004)GGa>TTa	p.G668L	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.G483L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAGCACAGTTCCAGCTTGGATT	0.465																																																	0																																										SO:0001583	missense	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2002_2003delinsAA	4.37:g.6050609_6050610delinsAA	ENSP00000386711:p.Gly668Leu		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation|Nonsense_Mutation	SNP	NULL	p.G668V|p.G668*	ENST00000409021.3	37	c.2003|c.2002	CCDS47005.1	4																																																																																			JAKMIP1	-	NULL	ENSG00000152969		0.465	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	-	0	54|56	0	C	NM_144720		6050609|6050610	-1	tier1	-	no_errors	ENST00000409021	ensembl	human	known	74_37	missense|nonsense	86.21|85.71	4	25|24	SNP	1.000|0.991	A	AA	6050610	CC	AA	6050609	3	1	110	1	0	0	0	0	1	0	0	0	7967	855	30	3	516	3	JAKMIP1	4	6050609	Missense_Mutation	DNP	CC	TCGA-LN-A49Y-01A-11D-A27G-09		6050609	185103667	56	29859											
ANAPC4	29945	genome.wustl.edu	37	chr4	25394002	25394002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcttacctgaagtaactCggatggccagaaagtttact	11	13	8	9	1	1	2	0	1	1	1	2	3	1	3	2	2	3	2	2	2	5	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:25394002C>T	ENST00000315368.3	+	10	890	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R250W	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)	p.R250W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGAAGTAACTCGGATGGCCAG	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											145	139	141					4																	25394002		2202	4300	6502	SO:0001583	missense	0			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"Anaphase promoting complex subunits"	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.748C>T	4.37:g.25394002C>T	ENSP00000318775:p.Arg250Trp		A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,pirsf_APC4_metazoa	p.R250W	ENST00000315368.3	37	c.748	CCDS3434.1	4	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799688	0.70567	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.32988	1.43;1.43	5.72	3.95	0.45737	Anaphase-promoting complex subunit 4 long domain (1);	0.048843	0.85682	D	0.000000	T	0.47116	0.1428	L	0.44542	1.39	0.45515	D	0.998475	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.72338	0.9;0.977;0.965	T	0.44498	-0.9324	10	0.66056	D	0.02	-18.2513	14.8946	0.70633	0.2623:0.7377:0.0:0.0	.	250;250;250	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	W	250	ENSP00000318775:R250W;ENSP00000426654:R250W	ENSP00000318775:R250W	R	+	1	2	ANAPC4	25003100	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.847000	0.39299	0.734000	0.32515	0.655000	0.94253	CGG	ANAPC4	-	pirsf_APC4_metazoa	ENSG00000053900		0.343	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANAPC4	HGNC	protein_coding	OTTHUMT00000214986.1		0	48	0	C	NM_013367		25394002	1			no_errors	ENST00000510092	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T	T	25394002	C	T	25394002	3	4	110	1	0	0	0	0	1	0	0	0	604	875	31	1	782	1	ANAPC4	4	25394002	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	19343393	25394002	165760274	57	29860											
UGT2B15	7366	genome.wustl.edu	37	chr4	69535727	69535727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccatgaaaatcatttgatCacttaattctgacataacaa	16	13	3	9	0	3	3	2	3	1	0	4	3	4	3	1	0	1	0	1	0	5	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:69535727C>T	ENST00000338206.5	-	1	619	c.610G>A	c.(610-612)Gat>Aat	p.D204N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	204					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATCATTTGATCACTTAATTCT	0.348																																																	0													120	124	122					4																	69535727		2203	4296	6499	SO:0001583	missense	0			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"UDP glucuronosyltransferases"	12546	protein-coding gene	gene with protein product		600069	"UDP glycosyltransferase 2 family, polypeptide B15"			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.610G>A	4.37:g.69535727C>T	ENSP00000341045:p.Asp204Asn		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D204N	ENST00000338206.5	37	c.610	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	16.68	3.190255	0.58017	.	.	ENSG00000196620	ENST00000338206	T	0.66815	-0.23	2.79	2.79	0.32731	.	0.000000	0.64402	U	0.000003	T	0.81555	0.4847	M	0.87682	2.9	0.30516	N	0.768939	D	0.76494	0.999	D	0.77557	0.99	T	0.80228	-0.1469	10	0.66056	D	0.02	.	11.3195	0.49412	0.0:1.0:0.0:0.0	.	204	P54855	UDB15_HUMAN	N	204	ENSP00000341045:D204N	ENSP00000341045:D204N	D	-	1	0	UGT2B15	69218322	0.995000	0.38212	0.030000	0.17652	0.625000	0.37756	5.074000	0.64401	1.536000	0.49237	0.442000	0.29010	GAT	UGT2B15	-	pfam_UDP_glucos_trans	ENSG00000196620		0.348	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	-	0	72	0	C	NM_001076		69535727	-1	tier1	-	no_errors	ENST00000338206	ensembl	human	known	74_37	missense	33.70	61	31	SNP	0.998	T	T	69535727	C	T	69535727	3	4	110	1	0	0	0	0	1	0	0	0	17007	826	29	3	2623	3	UGT2B15	4	69535727	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	44141725	69535727	121618549	58	29861											
SCARB2	950	genome.wustl.edu	37	chr4	77095377	77095377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagccggcattgtctgacGtattggctaatatttctgca	10	13	10	8	2	2	2	0	1	2	1	2	2	2	2	1	2	2	4	1	2	4	6	rs148588727		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:77095377G>A	ENST00000264896.2	-	7	1263	c.914C>T	c.(913-915)aCg>aTg	p.T305M	SCARB2_ENST00000452464.2_Missense_Mutation_p.T162M	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	305					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			ATTGTCTGACGTATTGGCTAA	0.463													G|||	1	0.000199681	0	0	5008	,	,		19102	0.001		0	False		,,,				2504	0																0													134	138	137					4																	77095377		2203	4300	6503	SO:0001583	missense	0			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.914C>T	4.37:g.77095377G>A	ENSP00000264896:p.Thr305Met		B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold,prints_LimpII,prints_CD36,prints_CD36_antigen	p.T305M	ENST00000264896.2	37	c.914	CCDS3577.1	4	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.30	1.311367	0.23821	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	T;T	0.73047	-0.71;-0.71	5.5	1.12	0.20585	.	0.986023	0.08330	N	0.962491	T	0.67221	0.2870	L	0.31065	0.9	0.09310	N	1	D;P	0.61697	0.99;0.916	P;P	0.58873	0.847;0.671	T	0.54906	-0.8223	10	0.62326	D	0.03	.	1.19	0.01863	0.1471:0.2486:0.2528:0.3515	.	162;305	E7EM68;Q14108	.;SCRB2_HUMAN	M	305;162	ENSP00000264896:T305M;ENSP00000399154:T162M	ENSP00000264896:T305M	T	-	2	0	SCARB2	77314401	0.000000	0.05858	0.780000	0.31762	0.059000	0.15707	-0.032000	0.12266	0.243000	0.21327	-0.176000	0.13171	ACG	SCARB2	-	pfam_CD36,prints_LimpII	ENSG00000138760		0.463	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1		0	20	0	G	NM_005506		77095377	-1			no_errors	ENST00000264896	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.001	A	A	77095377	G	A	77095377	3	1	110	1	0	0	0	0	1	0	0	0	13927	1145	40	1	546	1	SCARB2	4	77095377	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	7559650	77095377	114058899	59	29862											
NAA11	84779	genome.wustl.edu	37	chr4	80246777	80246777	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccatcagcttctgggccagGccgaggcgccggtgtgaacg	6	7	15	13	4	2	1	1	1	1	0	3	2	3	1	4	4	2	1	4	4	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:80246777G>T	ENST00000286794.4	-	1	427	c.255C>A	c.(253-255)ggC>ggA	p.G85G	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	85	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTGGGCCAGGCCGAGGCGCC	0.572																																																	0													59	64	62					4																	80246777		2161	4269	6430	SO:0001819	synonymous_variant	0				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"N(alpha)-acetyltransferase subunits"	28125	protein-coding gene	gene with protein product			"ARD1 homolog B (S. cerevisiae)"	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.255C>A	4.37:g.80246777G>T			Q66K19|Q6P479	Silent	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.G85	ENST00000286794.4	37	c.255	CCDS47084.1	4																																																																																			NAA11	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000156269		0.572	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	-	0	36	0	G			80246777	-1	tier1	-	no_errors	ENST00000286794	ensembl	human	known	74_37	silent	40.74	16	11	SNP	1.000	T	T	80246777	G	T	80246777	2	4	110	1	0	0	0	0	0	0	0	1	10155	1190	42	3		3	NAA11	4	80246777	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3151400	80246777	110907499	60	29863											
BANK1	55024	genome.wustl.edu	37	chr4	102951371	102951371	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcctgcccccacacccCgacccacaagtatacctcca	10	5	4	22	1	0	0	0	0	0	0	2	2	2	0	9	0	2	1	9	0	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:102951371C>T	ENST00000322953.4	+	10	2123	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	BANK1_ENST00000428908.1_Nonsense_Mutation_p.R484*|BANK1_ENST00000444316.2_Nonsense_Mutation_p.R587*|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Nonsense_Mutation_p.R484*|BANK1_ENST00000504592.1_Nonsense_Mutation_p.R602*	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	617					B cell activation (GO:0042113)			p.R617R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CCCCACACCCCGACCCACAAG	0.368																																																	1	Substitution - coding silent(1)	lung(1)											93	99	97					4																	102951371		2203	4300	6503	SO:0001587	stop_gained	0			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"Ankyrin repeat domain containing"	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1849C>T	4.37:g.102951371C>T	ENSP00000320509:p.Arg617*		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Nonsense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.R617*	ENST00000322953.4	37	c.1849	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.277983	0.97435	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000428908;ENST00000508653;ENST00000444316	.	.	.	5.86	3.9	0.45041	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6353	0.62219	0.3126:0.6874:0.0:0.0	.	.	.	.	X	602;617;484;484;587	.	ENSP00000320509:R617X	R	+	1	2	BANK1	103170394	0.405000	0.25336	0.833000	0.33012	0.864000	0.49448	0.594000	0.24014	1.415000	0.47037	0.591000	0.81541	CGA	BANK1	-	NULL	ENSG00000153064		0.368	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	-	0	40	0	C	NM_017935		102951371	1	tier1	-	no_errors	ENST00000322953	ensembl	human	known	74_37	nonsense	81.82	6	27	SNP	0.568	T	T	102951371	C	T	102951371	4	4	110	1	0	0	0	0	0	1	0	0	1310	644	23	1	1887	1	BANK1	4	102951371	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	22704594	102951371	88202905	61	29864											
UGT8	7368	genome.wustl.edu	37	chr4	115585172	115585172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccaaagatgggtaaatGgtgctaatgaacatggcttt	13	12	10	6	0	1	2	0	1	1	1	2	2	1	2	1	3	2	3	1	3	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:115585172G>T	ENST00000310836.6	+	3	1366	c.844G>T	c.(844-846)Ggt>Tgt	p.G282C	UGT8_ENST00000394511.3_Missense_Mutation_p.G282C	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	282					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		ATGGGTAAATGGTGCTAATGA	0.398																																																	0													174	160	165					4																	115585172		2203	4300	6503	SO:0001583	missense	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"UDP glucuronosyltransferases"	12555	protein-coding gene	gene with protein product	"2-hydroxyacylsphingosine 1-beta-galactosyltransferase"	601291	"UDP-galactose ceramide galactosyltransferase"	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.844G>T	4.37:g.115585172G>T	ENSP00000311648:p.Gly282Cys		B3KXU7|O00196	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.G282C	ENST00000310836.6	37	c.844	CCDS3705.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091824	0.76756	.	.	ENSG00000174607	ENST00000310836;ENST00000394511	T;T	0.59906	0.23;0.23	5.65	4.81	0.61882	.	0.196730	0.56097	D	0.000036	T	0.66557	0.2801	L	0.52573	1.65	0.49213	D	0.999766	D	0.55385	0.971	P	0.61874	0.895	T	0.68953	-0.5273	10	0.87932	D	0	.	10.6111	0.45423	0.1461:0.0:0.8539:0.0	.	282	Q16880	CGT_HUMAN	C	282	ENSP00000311648:G282C;ENSP00000378019:G282C	ENSP00000311648:G282C	G	+	1	0	UGT8	115804621	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	5.204000	0.65180	1.393000	0.46605	0.655000	0.94253	GGT	UGT8	-	pfam_UDP_glucos_trans	ENSG00000174607		0.398	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	-	0	32	0	G	NM_003360		115585172	1	tier1	-	no_errors	ENST00000310836	ensembl	human	known	74_37	missense	40.00	27	18	SNP	1.000	T	T	115585172	G	T	115585172	3	4	110	1	0	0	0	0	1	0	0	0	17014	1348	47	3	850	3	UGT8	4	115585172	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	12633801	115585172	75569104	62	29865											
NDUFC1	4717	genome.wustl.edu	37	chr4	140216938	140216938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaaaggggacgcagcaaGgcggacggcgccatcttgcg	9	3	18	11	6	1	0	0	0	1	0	1	3	1	3	1	6	2	2	1	6	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:140216938G>A	ENST00000544855.1	-	3	844	c.15C>T	c.(13-15)gcC>gcT	p.A5A	NDUFC1_ENST00000394223.1_Silent_p.A5A|NDUFC1_ENST00000539002.1_Silent_p.A5A|NDUFC1_ENST00000505036.1_Silent_p.A5A|NDUFC1_ENST00000394228.1_Silent_p.A5A|NDUFC1_ENST00000265500.4_Silent_p.A5A|NDUFC1_ENST00000539387.1_Silent_p.A5A|NDUFC1_ENST00000507764.1_5'UTR	NM_001184986.1	NP_001171915.1	O43677	NDUC1_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa	5					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|upper_aerodigestive_tract(1)	2	all_hematologic(180;0.162)					GACGCAGCAAGGCGGACGGCG	0.692											OREG0016331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													15	15	15					4																	140216938		2168	4267	6435	SO:0001819	synonymous_variant	0			AF047184	CCDS3746.1	4q31.1	2011-07-04	2002-08-29		ENSG00000109390	ENSG00000109390		"Mitochondrial respiratory chain complex / Complex I"	7705	protein-coding gene	gene with protein product	"complex I KFYI subunit"	603844	"NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)"			9425316, 9763677	Standard	NM_001184986		Approved	KFYI	uc021xsa.1	O43677	OTTHUMG00000133387	ENST00000544855.1:c.15C>T	4.37:g.140216938G>A		1654	A8K532|Q3MIJ9	Silent	SNP	NULL	p.A5	ENST00000544855.1	37	c.15	CCDS3746.1	4																																																																																			NDUFC1	-	NULL	ENSG00000109390		0.692	NDUFC1-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFC1	HGNC	protein_coding	OTTHUMT00000257237.1		0	13	0	G	NM_002494		140216938	-1			no_errors	ENST00000265500	ensembl	human	known	74_37	silent	85.71	1	6	SNP	0.000	A	A	140216938	G	A	140216938	2	1	110	1	0	0	0	0	0	0	0	1	10328	987	35	3		3	NDUFC1	4	140216938	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	24631766	140216938	50937338	63	29866											
MAB21L2	10586	genome.wustl.edu	37	chr4	151504491	151504491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagtgctcaaactgagcGatgggcggaagcggagcatg	10	5	17	9	4	1	1	1	1	0	0	1	4	1	3	0	3	5	3	0	3	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:151504491G>A	ENST00000317605.4	+	1	1415	c.310G>A	c.(310-312)Gat>Aat	p.D104N	RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000535741.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	104					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CAAACTGAGCGATGGGCGGAA	0.612																																																	0													92	87	89					4																	151504491		2203	4300	6503	SO:0001583	missense	0			AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"mab-21 (C. elegans)-like 2"				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.310G>A	4.37:g.151504491G>A	ENSP00000324701:p.Asp104Asn		B3KP37|Q9HBA7	Missense_Mutation	SNP	pfam_Mab-21_dom,pfscan_Ricin_B_lectin	p.D104N	ENST00000317605.4	37	c.310	CCDS3774.1	4	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991819	0.93106	.	.	ENSG00000181541	ENST00000317605	T	0.19394	2.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43278	-0.9401	10	0.32370	T	0.25	-12.3304	20.2985	0.98592	0.0:0.0:1.0:0.0	.	104	Q9Y586	MB212_HUMAN	N	104	ENSP00000324701:D104N	ENSP00000324701:D104N	D	+	1	0	MAB21L2	151723941	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAT	MAB21L2	-	pfam_Mab-21_dom	ENSG00000181541		0.612	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L2	HGNC	protein_coding	OTTHUMT00000364937.1	-	0	32	0	G	NM_006439		151504491	1	tier1	-	no_errors	ENST00000317605	ensembl	human	known	74_37	missense	57.69	11	15	SNP	1.000	A	A	151504491	G	A	151504491	3	1	110	1	0	0	0	0	1	0	0	0	9178	1058	37	1	312	1	MAB21L2	4	151504491	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	11287553	151504491	39649785	64	29867											
GLRA3	8001	genome.wustl.edu	37	chr4	175565081	175565081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtcgataaagaccttcctCatttcatcaggactttttgg	9	14	8	10	2	3	1	3	0	0	1	5	3	4	2	2	3	0	0	2	3	2	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:175565081C>G	ENST00000274093.3	-	10	1753	c.1251G>C	c.(1249-1251)atG>atC	p.M417I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M402I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	417					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGACCTTCCTCATTTCATCAG	0.458																																																	0													161	138	146					4																	175565081		2203	4300	6503	SO:0001583	missense	0			AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"Ligand-gated ion channels / Glycine receptors"	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.1251G>C	4.37:g.175565081C>G	ENSP00000274093:p.Met417Ile		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.M417I	ENST00000274093.3	37	c.1251	CCDS3822.1	4	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666174	0.29604	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.83506	-1.73;-1.71	5.98	5.98	0.97165	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.71525	0.3350	N	0.17345	0.48	0.53688	D	0.999978	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.67027	-0.5774	10	0.06236	T	0.91	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	402;417	O75311-2;O75311	.;GLRA3_HUMAN	I	417;402	ENSP00000274093:M417I;ENSP00000345284:M402I	ENSP00000274093:M417I	M	-	3	0	GLRA3	175801656	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.187000	0.50950	2.838000	0.97847	0.591000	0.81541	ATG	GLRA3	-	superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000145451		0.458	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	GLRA3	HGNC	protein_coding	OTTHUMT00000313427.1	-	0	43	0	C			175565081	-1	tier1	-	no_errors	ENST00000274093	ensembl	human	known	74_37	missense	46.30	29	25	SNP	1.000	G	G	175565081	C	G	175565081	3	3	110	1	0	0	0	0	1	0	0	0	6482	826	29	5	147	5	GLRA3	4	175565081	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	24060590	175565081	15589195	65	29868											
TRIML2	205860	genome.wustl.edu	37	chr4	189026335	189026335	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgtgagtgactcttaccCtgtaattctcagcagcctct	7	14	8	12	1	3	2	1	2	3	0	4	2	3	2	2	0	4	2	2	0	2	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr4:189026335C>A	ENST00000512729.1	-	1	412	c.38G>T	c.(37-39)aGg>aTg	p.R13M	TRIML2_ENST00000326754.3_Splice_Site_p.R13M|TRIML2_ENST00000502707.1_5'Flank|TRIML2_ENST00000536972.1_Splice_Site_p.R63M	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	13					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GACTCTTACCCTGTAATTCTC	0.458																																																	0													375	342	353					4																	189026335		2203	4300	6503	SO:0001630	splice_region_variant	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"SPRY domain containing 6"						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.39+1G>T	4.37:g.189026335C>A			B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.R13M	ENST00000512729.1	37	c.38	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695766	0.30052	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.64260	0.3;-0.09;0.27	4.96	3.24	0.37175	.	0.309920	0.24022	N	0.042273	T	0.65491	0.2696	L	0.39898	1.24	0.32722	N	0.510209	D;D;D	0.76494	0.999;0.992;0.992	D;P;P	0.64042	0.921;0.754;0.754	T	0.70332	-0.4901	10	0.48119	T	0.1	.	8.2233	0.31554	0.0:0.8109:0.0:0.1891	.	63;13;13	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	M	13;13;63	ENSP00000422581:R13M;ENSP00000317498:R13M;ENSP00000441236:R63M	ENSP00000317498:R13M	R	-	2	0	TRIML2	189263329	0.992000	0.36948	0.844000	0.33320	0.090000	0.18270	0.017000	0.13399	0.786000	0.33708	0.655000	0.94253	AGG	TRIML2	-	NULL	ENSG00000179046		0.458	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0	49	0	C	NM_173553	Missense_Mutation	189026335	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	44.62	36	29	SNP	0.978	A	A	189026335	C	A	189026335	5	1	110	1	0	0	0	0	0	0	1	0	16599	695	24	3	1153	3	TRIML2	4	189026335	Splice_Site	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	13461254	189026335	2127941	66	29869											
SLC6A19	340024	genome.wustl.edu	37	chr5	1221849	1221849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcccagaagatctcctacCcgaactgggtgtatgtggtg	10	10	11	10	1	1	2	0	0	1	2	3	3	2	2	3	2	2	1	3	2	5	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:1221849C>A	ENST00000304460.10	+	12	1791	c.1735C>A	c.(1735-1737)Ccg>Acg	p.P579T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	579					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATCTCCTACCCGAACTGGGT	0.567																																																	0													114	103	107					5																	1221849		2203	4300	6503	SO:0001583	missense	0			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"Solute carriers"	27960	protein-coding gene	gene with protein product	"Hartnup disease"	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1735C>A	5.37:g.1221849C>A	ENSP00000305302:p.Pro579Thr		A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.P579T	ENST00000304460.10	37	c.1735	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733358	0.48939	.	.	ENSG00000174358	ENST00000304460	D	0.86769	-2.17	4.73	4.73	0.59995	.	0.158475	0.56097	D	0.000024	D	0.95554	0.8555	H	0.95079	3.62	0.58432	D	0.999999	D	0.89917	1.0	D	0.77004	0.989	D	0.97151	0.9831	10	0.87932	D	0	.	17.6827	0.88248	0.0:1.0:0.0:0.0	.	579	Q695T7	S6A19_HUMAN	T	579	ENSP00000305302:P579T	ENSP00000305302:P579T	P	+	1	0	SLC6A19	1274849	1.000000	0.71417	0.780000	0.31762	0.010000	0.07245	6.480000	0.73604	2.197000	0.70478	0.561000	0.74099	CCG	SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000174358		0.567	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	-	0	38	0	C	XM_291120		1221849	1	tier1	-	no_errors	ENST00000304460	ensembl	human	known	74_37	missense	52.46	29	32	SNP	1.000	A	A	1221849	C	A	1221849	3	1	110	1	0	0	0	0	1	0	0	0	14727	623	22	3	1781	3	SLC6A19	5	1221849	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		1221849	179693411	67	29870											
MTRR	4552	genome.wustl.edu	37	chr5	7897311	7897311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatccagcttcatggccagCaggtggcgagaatcctcctc	9	8	10	14	1	1	1	1	0	0	1	5	2	4	1	4	3	2	2	4	3	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:7897311C>T	ENST00000264668.2	+	14	2014	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.Q635*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	662					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TCATGGCCAGCAGGTGGCGAG	0.512																																																	0													112	107	109					5																	7897311		2203	4300	6503	SO:0001587	stop_gained	0			AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.1984C>T	5.37:g.7897311C>T	ENSP00000264668:p.Gln662*		O60471|Q32MA9|Q7Z4M8	Nonsense_Mutation	SNP	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.Q662*	ENST00000264668.2	37	c.1984	CCDS3874.1	5	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769401	0.69992	.	.	ENSG00000124275	ENST00000264668;ENST00000440940	.	.	.	5.4	2.43	0.29744	.	0.635226	0.17304	N	0.179121	.	.	.	.	.	.	0.29925	N	0.822387	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-11.5318	17.9029	0.88910	0.0:0.4671:0.5329:0.0	.	.	.	.	X	662;635	.	ENSP00000264668:Q662X	Q	+	1	0	MTRR	7950311	0.969000	0.33509	0.214000	0.23707	0.126000	0.20510	1.791000	0.38744	0.235000	0.21160	-0.795000	0.03280	CAG	MTRR	-	pfam_OxRdtase_FAD/NAD-bd	ENSG00000124275		0.512	MTRR-001	KNOWN	basic|CCDS	protein_coding	MTRR	HGNC	protein_coding	OTTHUMT00000206931.1		0	40	0	C			7897311	1			no_errors	ENST00000264668	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	0.315	T	T	7897311	C	T	7897311	4	4	110	1	0	0	0	0	0	1	0	0	9999	711	25	3	2038	3	MTRR	5	7897311	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	6675462	7897311	173017949	68	29871											
NIPBL	25836	genome.wustl.edu	37	chr5	37014784	37014784	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactttttttcattctaGattgaccaggatgttgtcat	9	18	6	8	0	4	2	3	1	1	1	4	3	4	3	1	1	0	1	1	1	1	7			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:37014784G>T	ENST00000282516.8	+	22	5059		c.e22-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCATTCTAGATTGACCAGG	0.308																																																	0													120	132	128					5																	37014784		2203	4298	6501	SO:0001630	splice_region_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.4561-1G>T	5.37:g.37014784G>T			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	-	e21-1	ENST00000282516.8	37	c.4561-1	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621318	0.46736	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2733	0.90074	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37050541	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	9.245000	0.95431	2.393000	0.81446	0.591000	0.81541	.	NIPBL	-	-	ENSG00000164190		0.308	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0	24	0	G	NM_015384	Intron	37014784	1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	splice_site	30.95	29	13	SNP	1.000	T	T	37014784	G	T	37014784	5	4	110	1	0	0	0	0	0	0	1	0	10467	956	33	3	4642	3	NIPBL	5	37014784	Splice_Site	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	29117473	37014784	143900476	69	29872											
MARVELD2	153562	genome.wustl.edu	37	chr5	68715944	68715944	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattgggcagtatgtatggGggctattactacactggccc	8	11	14	8	0	0	0	0	0	0	0	0	1	0	1	1	5	2	4	1	5	5	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:68715944G>T	ENST00000325631.5	+	2	806	c.732G>T	c.(730-732)ggG>ggT	p.G244G	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	244	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GTATGTATGGGGGCTATTACT	0.468																																																	0													204	181	189					5																	68715944		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"tricellulin"	610572	"MARVEL (membrane-associating) domain containing 2", "deafness, autosomal recessive 49"	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.732G>T	5.37:g.68715944G>T			A1BQX0|A1BQX1|A8KA97|Q96NM9	Silent	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel	p.G244	ENST00000325631.5	37	c.732	CCDS34175.1	5																																																																																			MARVELD2	-	pfam_Marvel	ENSG00000152939		0.468	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD2	HGNC	protein_coding	OTTHUMT00000369583.1	-	0	85	0	G	NM_144724		68715944	1	tier1	-	no_errors	ENST00000325631	ensembl	human	known	74_37	silent	81.48	10	44	SNP	0.998	T	T	68715944	G	T	68715944	2	4	110	1	0	0	0	0	0	0	0	1	9356	1219	43	3		3	MARVELD2	5	68715944	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	31701160	68715944	112199316	70	29873											
FAM172A	83989	genome.wustl.edu	37	chr5	93217190	93217190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcactctgatatacaattGcatcatttctttttctcttt	9	20	2	10	0	5	1	2	1	3	0	6	1	5	1	0	0	2	1	0	0	3	7			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:93217190G>T	ENST00000395965.3	-	7	914	c.772C>A	c.(772-774)Caa>Aaa	p.Q258K	FAM172A_ENST00000509739.1_Missense_Mutation_p.Q111K|FAM172A_ENST00000505869.1_Missense_Mutation_p.Q148K|FAM172A_ENST00000509163.1_Missense_Mutation_p.Q212K	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	258						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						ATATACAATTGCATCATTTCT	0.299																																																	0													162	155	157					5																	93217190		2203	4299	6502	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"chromosome 5 open reading frame 21"	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.772C>A	5.37:g.93217190G>T	ENSP00000379294:p.Gln258Lys		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.Q258K	ENST00000395965.3	37	c.772	CCDS4069.1	5	.	.	.	.	.	.	.	.	.	.	G	8.839	0.941725	0.18281	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509739;ENST00000509163	T;T	0.41400	1.0;1.02	4.78	4.78	0.61160	.	0.233772	0.44688	D	0.000433	T	0.27241	0.0668	N	0.14661	0.345	0.51767	D	0.999936	B;B;B;B	0.24920	0.114;0.006;0.005;0.114	B;B;B;B	0.24394	0.033;0.015;0.004;0.053	T	0.08289	-1.0729	10	0.10111	T	0.7	-17.8328	18.1662	0.89727	0.0:0.0:1.0:0.0	.	111;148;258;258	B4DMI0;B4DJ14;Q8WUF8;Q8WUF8-2	.;.;F172A_HUMAN;.	K	258;148;111;212	ENSP00000379294:Q258K;ENSP00000423841:Q212K	ENSP00000379294:Q258K	Q	-	1	0	FAM172A	93242946	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.295000	0.89937	2.350000	0.79820	0.650000	0.86243	CAA	FAM172A	-	NULL	ENSG00000113391		0.299	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	-	0	51	0	G	NM_032042		93217190	-1	tier1	-	no_errors	ENST00000395965	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T	T	93217190	G	T	93217190	3	4	110	1	0	0	0	0	1	0	0	0	5511	1328	46	3	498	3	FAM172A	5	93217190	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	24501246	93217190	87698070	71	29874											
PCDHA2	56146	genome.wustl.edu	37	chr5	140176748	140176748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccgagggtgcgcgcgcGccaggaaagcccacgctggt	7	3	15	16	6	0	0	0	0	0	0	0	2	0	1	4	3	2	1	4	3	1	0	rs146821058	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:140176748G>A	ENST00000526136.1	+	1	2199	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	PCDHA2_ENST00000520672.2_Silent_p.A733A|PCDHA2_ENST00000378132.1_Silent_p.A733A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	733					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCGCGCGCCAGGAAAGC	0.677																																																	0													47	50	49					5																	140176748		2203	4299	6502	SO:0001819	synonymous_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"Cadherins / Protocadherins : Clustered"	8668	other	complex locus constituent	"KIAA0345-like 12"	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2199G>A	5.37:g.140176748G>A			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A733	ENST00000526136.1	37	c.2199	CCDS54914.1	5																																																																																			PCDHA2	-	NULL	ENSG00000204969		0.677	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	-	0	51	0	G	NM_018905		140176748	1	tier1	-	no_errors	ENST00000526136	ensembl	human	known	74_37	silent	40.32	37	25	SNP	0.022	A	A	140176748	G	A	140176748	2	1	110	1	0	0	0	0	0	0	0	1	11563	1074	38	1		1	PCDHA2	5	140176748	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	46959558	140176748	40738512	72	29875											
PCDHA9	9752	genome.wustl.edu	37	chr5	140229769	140229769	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagaacgacaatgcgccGgcgctgctgacacctcggat	10	5	13	13	6	0	2	0	1	0	1	1	6	0	3	2	2	3	2	2	2	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:140229769G>C	ENST00000532602.1	+	1	2722	c.1689G>C	c.(1687-1689)ccG>ccC	p.P563P	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.P563P|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCGCCGGCGCTGCTGA	0.692																																					Melanoma(55;1800 1972 14909)												0													60	65	63					5																	140229769		2196	4268	6464	SO:0001819	synonymous_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"Cadherins / Protocadherins : Clustered"	8675	other	complex locus constituent	"KIAA0345-like 5"	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1689G>C	5.37:g.140229769G>C			O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P563	ENST00000532602.1	37	c.1689	CCDS54920.1	5																																																																																			PCDHA9	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204961		0.692	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0	92	0	G	NM_031857		140229769	1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	silent	53.33	42	48	SNP	0.005	C	C	140229769	G	C	140229769	2	2	110	1	0	0	0	0	0	0	0	1	11570	1103	39	5		5	PCDHA9	5	140229769	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	53021	140229769	40685491	73	29876											
PCDHAC2	56134	genome.wustl.edu	37	chr5	140347251	140347251	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccttgagcagctacacGtcggaccgggagaggcagct	9	7	13	12	3	0	2	0	1	0	1	2	4	1	3	2	3	5	4	2	3	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:140347251G>T	ENST00000289269.5	+	1	1432	c.900G>T	c.(898-900)acG>acT	p.T300T	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTACACGTCGGACCGGG	0.582																																					Melanoma(190;638 2083 3390 11909 52360)												0													41	41	41					5																	140347251		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"Cadherins / Protocadherins : Clustered"	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.900G>T	5.37:g.140347251G>T			Q2M3V1|Q9Y5F4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T300	ENST00000289269.5	37	c.900	CCDS4242.1	5																																																																																			PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.582	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	-	0	20	0	G	NM_018899		140347251	1	tier1	-	no_errors	ENST00000289269	ensembl	human	known	74_37	silent	60.87	9	14	SNP	0.005	T	T	140347251	G	T	140347251	2	4	110	1	0	0	0	0	0	0	0	1	11572	1132	40	2		2	PCDHAC2	5	140347251	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	117482	140347251	40568009	74	29877											
PCDHB6	56130	genome.wustl.edu	37	chr5	140531971	140531971	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcgtggcggtgcggctGtgcaggaggagcagggcggc	4	7	21	9	4	0	0	0	0	0	0	1	2	0	2	0	7	3	4	0	7	0	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:140531971G>T	ENST00000231136.1	+	1	2133	c.2133G>T	c.(2131-2133)ctG>ctT	p.L711L	PCDHB6_ENST00000543635.1_Silent_p.L575L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	711					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGCGGCTGTGCAGGAGGA	0.667																																																	0													74	88	83					5																	140531971		2200	4293	6493	SO:0001819	synonymous_variant	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2133G>T	5.37:g.140531971G>T			B2R8R9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L711	ENST00000231136.1	37	c.2133	CCDS4248.1	5																																																																																			PCDHB6	-	NULL	ENSG00000113211		0.667	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	-	0	138	0	G	NM_018939		140531971	1	tier1	-	no_errors	ENST00000231136	ensembl	human	known	74_37	silent	40.30	80	54	SNP	0.998	T	T	140531971	G	T	140531971	2	4	110	1	0	0	0	0	0	0	0	1	11585	1364	48	3		3	PCDHB6	5	140531971	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	184720	140531971	40383289	75	29878											
PCDHB7	56129	genome.wustl.edu	37	chr5	140554449	140554449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctcccggaggcggcccCggaccaggccaactcgctca	6	3	14	18	5	1	0	1	0	0	0	3	2	2	2	5	6	1	2	5	6	1	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:140554449C>A	ENST00000231137.3	+	1	2207	c.2033C>A	c.(2032-2034)cCg>cAg	p.P678Q	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	678					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCCCCGGACCAGGCC	0.697																																																	0													51	83	72					5																	140554449		2193	4289	6482	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"Cadherins / Protocadherins : Clustered"	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2033C>A	5.37:g.140554449C>A	ENSP00000231137:p.Pro678Gln		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P678Q	ENST00000231137.3	37	c.2033	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	8.045	0.764700	0.15914	.	.	ENSG00000113212	ENST00000231137	T	0.51325	0.71	3.77	-7.04	0.01578	.	.	.	.	.	T	0.26557	0.0649	L	0.45051	1.395	0.09310	N	1	B	0.20671	0.047	B	0.20577	0.03	T	0.34079	-0.9843	9	0.10377	T	0.69	.	2.0138	0.03493	0.4134:0.2457:0.237:0.1038	.	678	Q9Y5E2	PCDB7_HUMAN	Q	678	ENSP00000231137:P678Q	ENSP00000231137:P678Q	P	+	2	0	PCDHB7	140534633	0.000000	0.05858	0.000000	0.03702	0.215000	0.24574	-5.501000	0.00117	-1.163000	0.02793	0.449000	0.29647	CCG	PCDHB7	-	NULL	ENSG00000113212		0.697	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	-	0	116	0	C	NM_018940		140554449	1	tier1	-	no_errors	ENST00000231137	ensembl	human	known	74_37	missense	38.84	74	47	SNP	0.000	A	A	140554449	C	A	140554449	3	1	110	1	0	0	0	0	1	0	0	0	11586	652	23	2	2035	2	PCDHB7	5	140554449	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	22478	140554449	40360811	76	29879											
PCDHB13	56123	genome.wustl.edu	37	chr5	140594187	140594187	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgaagacttagatgtaggCcaaaacaatattgagaacta	17	8	9	7	1	0	3	0	1	0	3	0	5	0	3	2	1	2	1	2	1	9	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:140594187C>A	ENST00000341948.4	+	1	679	c.492C>A	c.(490-492)ggC>ggA	p.G164G		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGATGTAGGCCAAAACAATA	0.468																																																	0													72	74	73					5																	140594187		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"Cadherins / Protocadherins : Clustered"	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.492C>A	5.37:g.140594187C>A			A8K9V6	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G164	ENST00000341948.4	37	c.492	CCDS4255.1	5																																																																																			PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000187372		0.468	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0	35	0	C	NM_018933		140594187	1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	48.98	25	24	SNP	0.003	A	A	140594187	C	A	140594187	2	1	110	1	0	0	0	0	0	0	0	1	11577	726	26	3		3	PCDHB13	5	140594187	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	39738	140594187	40321073	77	29880											
PCDHGC5	56097	genome.wustl.edu	37	chr5	140869552	140869552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatcctcagttctacgtGtgggaatcccagagaatgca	11	10	9	11	1	2	1	1	0	1	1	5	3	5	2	3	1	2	2	3	1	4	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:140869552G>T	ENST00000252087.1	+	1	745	c.745G>T	c.(745-747)Gtg>Ttg	p.V249L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	249	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTCTACGTGTGGGAATCCC	0.547																																																	0													174	177	176					5																	140869552		2203	4300	6503	SO:0001583	missense	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"Cadherins / Protocadherins : Clustered"	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.745G>T	5.37:g.140869552G>T	ENSP00000252087:p.Val249Leu		Q9Y5C2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V249L	ENST00000252087.1	37	c.745	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885917	0.33348	.	.	ENSG00000240764	ENST00000252087	T	0.01745	4.66	6.08	6.08	0.98989	Cadherin (3);Cadherin-like (1);	0.000000	0.51477	D	0.000099	T	0.04227	0.0117	M	0.62209	1.925	0.48830	D	0.999717	P;P	0.46987	0.864;0.888	B;P	0.46825	0.393;0.528	T	0.12811	-1.0533	10	0.87932	D	0	.	10.6434	0.45606	0.1427:0.0:0.8573:0.0	.	249;249	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	L	249	ENSP00000252087:V249L	ENSP00000252087:V249L	V	+	1	0	PCDHGC5	140849736	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	6.794000	0.75135	2.890000	0.99128	0.655000	0.94253	GTG	PCDHGC5	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000240764		0.547	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0	53	0	G	NM_018929		140869552	1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	T	T	140869552	G	T	140869552	3	4	110	1	0	0	0	0	1	0	0	0	11610	1377	48	3	747	3	PCDHGC5	5	140869552	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	275365	140869552	40045708	78	29881											
ITK	3702	genome.wustl.edu	37	chr5	156679678	156679678	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctgaaattgcagaatCaggactttagtagagactga	14	10	11	6	0	1	4	1	2	0	2	1	6	1	5	0	2	1	3	0	2	4	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:156679678C>A	ENST00000422843.3	+	17	2005	c.1853C>A	c.(1852-1854)tCa>tAa	p.S618*	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	618					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ATTGCAGAATCAGGACTTTAG	0.498			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													98	102	101					5																	156679678		2203	4300	6503	SO:0001587	stop_gained	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1853C>A	5.37:g.156679678C>A	ENSP00000398655:p.Ser618*		B2R752|Q32ML7	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.S618*	ENST00000422843.3	37	c.1853	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	C	38	6.828882	0.97869	.	.	ENSG00000113263	ENST00000422843	.	.	.	5.69	0.601	0.17529	.	0.860725	0.10397	N	0.679619	.	.	.	.	.	.	0.29614	N	0.84674	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	6.1581	0.20348	0.0:0.5452:0.2535:0.2013	.	.	.	.	X	618	.	ENSP00000398655:S618X	S	+	2	0	ITK	156612256	0.008000	0.16893	0.137000	0.22149	0.941000	0.58515	0.079000	0.14782	0.078000	0.16900	0.561000	0.74099	TCA	ITK	-	NULL	ENSG00000113263		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	37	0	C			156679678	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	nonsense	100.00	0	14	SNP	0.388	A	A	156679678	C	A	156679678	4	1	110	1	0	0	0	0	0	1	0	0	7936	838	29	3	1919	3	ITK	5	156679678	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	15810126	156679678	24235582	79	29882											
SOX30	11063	genome.wustl.edu	37	chr5	157075856	157075856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccataaatgcgttcatgggtCgcttcacatgaccatttctg	9	13	8	11	2	3	1	2	1	1	0	4	1	3	1	2	1	1	2	2	1	2	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:157075856C>T	ENST00000265007.6	-	2	1357	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	SOX30_ENST00000519442.1_Missense_Mutation_p.R34Q|SOX30_ENST00000311371.5_Missense_Mutation_p.R339Q	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	339					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTCATGGGTCGCTTCACATG	0.458																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													168	148	155					5																	157075856		2203	4300	6503	SO:0001583	missense	0			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"SRY (sex determining region Y)-boxes"	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1016G>A	5.37:g.157075856C>T	ENSP00000265007:p.Arg339Gln		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.R339Q	ENST00000265007.6	37	c.1016	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.194808	0.94960	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.99298	-5.71;-5.71;-5.71	5.72	5.72	0.89469	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	D	0.000015	D	0.99548	0.9838	M	0.90309	3.105	0.48395	D	0.999649	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.98479	1.0604	10	0.87932	D	0	.	19.8724	0.96855	0.0:1.0:0.0:0.0	.	34;339;339	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	Q	339;339;34	ENSP00000309343:R339Q;ENSP00000265007:R339Q;ENSP00000427984:R34Q	ENSP00000265007:R339Q	R	-	2	0	SOX30	157008434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.448000	0.73469	2.694000	0.91930	0.555000	0.69702	CGA	SOX30	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000039600		0.458	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2	-	0	67	0	C	NM_007017		157075856	-1	tier1	-	no_errors	ENST00000265007	ensembl	human	known	74_37	missense	53.23	29	33	SNP	1.000	T	T	157075856	C	T	157075856	3	4	110	1	0	0	0	0	1	0	0	0	14997	884	31	1	1261	1	SOX30	5	157075856	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	396178	157075856	23839404	80	29883											
WWC1	23286	genome.wustl.edu	37	chr5	167881043	167881043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaggtggaggaggaggagGgagaagaggatgttttcacc	12	6	20	3	0	1	2	1	0	0	2	1	9	1	8	1	8	0	1	1	8	1	2	rs201870717	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr5:167881043G>A	ENST00000265293.4	+	18	3098	c.2596G>A	c.(2596-2598)Gga>Aga	p.G866R	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.G866R	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	866	Glu-rich.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ggaggaggagggagaagagga	0.547																																																	0													115	110	112					5																	167881043		2202	4300	6502	SO:0001583	missense	0			AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"WW, C2 and coiled-coil domain containing"	29435	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 168"	610533	"WW, C2 and coiled-coil domain containing 1"			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2596G>A	5.37:g.167881043G>A	ENSP00000265293:p.Gly866Arg		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.G866R	ENST00000265293.4	37	c.2596	CCDS4366.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.150|8.150	0.787138|0.787138	0.16189|0.16189	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|T;T;T	.|0.48836	.|0.8;0.8;0.8	4.51|4.51	4.51|4.51	0.55191|0.55191	.|.	1.098670|1.098670	0.07053|0.07053	N|N	0.832242|0.832242	T|T	0.35364|0.35364	0.0929|0.0929	N|N	0.08118|0.08118	0|0	0.22521|0.22521	N|N	0.999023|0.999023	.|B;B	.|0.30526	.|0.283;0.097	.|B;B	.|0.38428	.|0.273;0.049	T|T	0.26780|0.26780	-1.0093|-1.0093	6|10	.|0.17832	.|T	.|0.49	.|.	13.0909|13.0909	0.59166|0.59166	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|866;866	.|Q8IX03-2;Q8IX03	.|.;KIBRA_HUMAN	E|R	827;642|866;866;192	.|ENSP00000265293:G866R;ENSP00000427772:G866R;ENSP00000428084:G192R	.|ENSP00000265293:G866R	G|G	+|+	2|1	0|0	WWC1|WWC1	167813621|167813621	0.560000|0.560000	0.26570|0.26570	0.022000|0.022000	0.16811|0.16811	0.001000|0.001000	0.01503|0.01503	3.871000|3.871000	0.56077|0.56077	2.234000|2.234000	0.73211|0.73211	0.544000|0.544000	0.68410|0.68410	GGG|GGA	WWC1	-	NULL	ENSG00000113645		0.547	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2		0	32	0	G	NM_015238		167881043	1			no_errors	ENST00000265293	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.441	A	A	167881043	G	A	167881043	3	1	110	1	0	0	0	0	1	0	0	0	17460	1233	43	3	2666	3	WWC1	5	167881043	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	10805187	167881043	13034217	81	29884											
FAM65B	9750	genome.wustl.edu	37	chr6	24875925	24875925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagtacttgcctggatCgcctttcctggaggccgctg	6	10	11	14	2	0	0	0	0	0	0	2	2	1	2	4	3	2	2	4	3	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:24875925C>A	ENST00000259698.4	-	2	270	c.95G>T	c.(94-96)cGa>cTa	p.R32L	FAM65B_ENST00000378023.4_Missense_Mutation_p.R32L|FAM65B_ENST00000540914.1_Missense_Mutation_p.R32L|FAM65B_ENST00000510784.2_Missense_Mutation_p.R66L|FAM65B_ENST00000538035.1_Missense_Mutation_p.R61L	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	32					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTGCCTGGATCGCCTTTCCTG	0.522																																																	0													36	37	37					6																	24875925		1949	4141	6090	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"myogenesis-related and NCAM-associated protein homolog (chicken)"	611410	"chromosome 6 open reading frame 32"	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.95G>T	6.37:g.24875925C>A	ENSP00000259698:p.Arg32Leu		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R32L	ENST00000259698.4	37	c.95	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042107	0.93685	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.01902	4.57;4.57;4.57;4.57;4.57	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.04137	0.0115	L	0.55481	1.735	0.58432	D	0.999997	D;D;D;D	0.61080	0.989;0.979;0.979;0.963	P;P;P;P	0.62298	0.9;0.859;0.859;0.859	T	0.45026	-0.9289	10	0.49607	T	0.09	-11.6279	13.9394	0.64046	0.0:0.9273:0.0:0.0727	.	66;61;32;32	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	L	32;61;32;32;66	ENSP00000259698:R32L;ENSP00000441138:R61L;ENSP00000367262:R32L;ENSP00000438425:R32L;ENSP00000441305:R66L	ENSP00000259698:R32L	R	-	2	0	FAM65B	24983904	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	7.378000	0.79679	1.291000	0.44653	0.563000	0.77884	CGA	FAM65B	-	NULL	ENSG00000111913		0.522	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0	21	0	C			24875925	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	A	A	24875925	C	A	24875925	3	1	110	1	0	0	0	0	1	0	0	0	5622	884	31	2	3209	2	FAM65B	6	24875925	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		24875925	146239142	82	29885											
SLC17A4	10050	genome.wustl.edu	37	chr6	25773853	25773853	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttttataccattatggCgtacacaccaacgtacatca	12	13	5	11	2	1	0	1	0	0	0	1	0	1	0	2	1	4	3	2	1	6	7	rs374082636		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:25773853C>G	ENST00000377905.4	+	8	1057	c.938C>G	c.(937-939)gCg>gGg	p.A313G	SLC17A4_ENST00000397076.2_Missense_Mutation_p.A83G|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	313					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACCATTATGGCGTACACACCA	0.403																																																	0													144	127	133					6																	25773853		2203	4300	6503	SO:0001583	missense	0			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"Solute carriers"	10932	protein-coding gene	gene with protein product		604216	"solute carrier family 17 (sodium phosphate), member 4"			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.938C>G	6.37:g.25773853C>G	ENSP00000367137:p.Ala313Gly		B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A313G	ENST00000377905.4	37	c.938	CCDS4564.1	6	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214587	0.58452	.	.	ENSG00000146039	ENST00000377905;ENST00000397076	T;T	0.59502	0.28;0.26	5.34	2.53	0.30540	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.141630	0.06543	N	0.743461	T	0.45657	0.1353	L	0.46614	1.455	0.09310	N	1	D;P	0.55385	0.971;0.636	P;B	0.54460	0.753;0.439	T	0.34030	-0.9845	10	0.87932	D	0	.	5.6993	0.17873	0.1593:0.6665:0.0:0.1742	.	83;313	E7EU17;Q9Y2C5	.;S17A4_HUMAN	G	313;83	ENSP00000367137:A313G;ENSP00000380266:A83G	ENSP00000367137:A313G	A	+	2	0	SLC17A4	25881832	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	0.450000	0.21762	0.730000	0.32425	0.655000	0.94253	GCG	SLC17A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000146039		0.403	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A4	HGNC	protein_coding	OTTHUMT00000040068.1	-	0	67	0	C			25773853	1	tier1	-	no_errors	ENST00000377905	ensembl	human	known	74_37	missense	23.08	100	30	SNP	0.001	G	G	25773853	C	G	25773853	3	3	110	1	0	0	0	0	1	0	0	0	14464	768	27	5	964	5	SLC17A4	6	25773853	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	897928	25773853	145341214	83	29886											
HIST1H1A	3024	genome.wustl.edu	37	chr6	26017517	26017517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcggagtcttgacgctCtttttgctagcccccgtggc	3	16	10	12	3	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	1	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:26017517C>G	ENST00000244573.3	-	1	523	c.444G>C	c.(442-444)aaG>aaC	p.K148N		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	148					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)	p.K148N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TCTTGACGCTCTTTTTGCTAG	0.483																																																	1	Substitution - Missense(1)	cervix(1)											141	150	147					6																	26017517		2203	4300	6503	SO:0001583	missense	0			AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"Histones / Replication-dependent"	4715	protein-coding gene	gene with protein product		142709	"H1 histone family, member 1", "histone 1, H1a"	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.444G>C	6.37:g.26017517C>G	ENSP00000244573:p.Lys148Asn		Q3MJ34	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K148N	ENST00000244573.3	37	c.444	CCDS4569.1	6	.	.	.	.	.	.	.	.	.	.	N	6.500	0.460520	0.12342	.	.	ENSG00000124610	ENST00000244573	T	0.14516	2.5	4.31	-1.34	0.09143	.	0.480369	0.19100	N	0.122740	T	0.03871	0.0109	L	0.34521	1.04	0.09310	N	1	P	0.46706	0.883	B	0.41860	0.368	T	0.35847	-0.9772	10	0.59425	D	0.04	-8.0238	9.8946	0.41311	0.0:0.6363:0.0:0.3637	.	148	Q02539	H11_HUMAN	N	148	ENSP00000244573:K148N	ENSP00000244573:K148N	K	-	3	2	HIST1H1A	26125496	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.567000	0.05916	-0.158000	0.11040	-0.192000	0.12808	AAG	HIST1H1A	-	NULL	ENSG00000124610		0.483	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1A	HGNC	protein_coding	OTTHUMT00000043884.1	-	0	44	0	C	NM_005325		26017517	-1	tier1	-	no_errors	ENST00000244573	ensembl	human	known	74_37	missense	29.63	56	24	SNP	0.024	G	G	26017517	C	G	26017517	3	3	110	1	0	0	0	0	1	0	0	0	7149	912	32	5	207	5	HIST1H1A	6	26017517	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	243664	26017517	145097550	84	29887											
HIST1H2BE	8344	genome.wustl.edu	37	chr6	26184245	26184245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgacatcttcgagcgcatCgccggcgaggcttcccgcct	7	7	11	16	7	1	0	0	0	1	0	4	3	2	0	3	2	2	2	3	2	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:26184245C>T	ENST00000356530.3	+	1	288	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						TCGAGCGCATCGCCGGCGAGG	0.607																																																	0													115	113	114					6																	26184245		2203	4300	6503	SO:0001819	synonymous_variant	0			Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"Histones / Replication-dependent"	4753	protein-coding gene	gene with protein product		602805	"H2B histone family, member H", "histone 1, H2be"	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.222C>T	6.37:g.26184245C>T			P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.I74	ENST00000356530.3	37	c.222	CCDS4588.1	6																																																																																			HIST1H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197697		0.607	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BE	HGNC	protein_coding	OTTHUMT00000040090.1	-	0	98	0	C	NM_003523		26184245	1	tier1	-	no_errors	ENST00000356530	ensembl	human	known	74_37	silent	41.76	53	38	SNP	1.000	T	T	26184245	C	T	26184245	2	4	110	1	0	0	0	0	0	0	0	1	7171	874	31	1		1	HIST1H2BE	6	26184245	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	166728	26184245	144930822	85	29888											
OR2J2	26707	genome.wustl.edu	37	chr6	29142185	29142185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcattccagtcatgtGcatgtatctccagccaccat	8	15	5	13	0	3	0	2	0	1	0	5	0	4	0	4	0	2	2	4	0	1	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:29142185G>T	ENST00000377167.2	+	1	875	c.773G>T	c.(772-774)tGc>tTc	p.C258F		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCAGTCATGTGCATGTATCTC	0.438																																																	0													119	110	113					6																	29142185		1918	4135	6053	SO:0001583	missense	0				CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"GPCR / Class A : Olfactory receptors"	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.773G>T	6.37:g.29142185G>T	ENSP00000366372:p.Cys258Phe		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C258F	ENST00000377167.2	37	c.773	CCDS43434.1	6	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.227350	0.01518	.	.	ENSG00000204700	ENST00000377167	T	0.00014	9.21	2.0	0.0199	0.14123	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00012	0.0000	N	0.00151	-1.98	0.09310	N	1	B	0.16802	0.019	B	0.21917	0.037	T	0.50250	-0.8850	9	0.29301	T	0.29	.	0.2384	0.00189	0.309:0.203:0.2817:0.2063	.	258	O76002	OR2J2_HUMAN	F	258	ENSP00000366372:C258F	ENSP00000366372:C258F	C	+	2	0	OR2J2	29250164	0.000000	0.05858	0.935000	0.37517	0.539000	0.34962	0.033000	0.13754	0.167000	0.19631	0.205000	0.17691	TGC	OR2J2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204700		0.438	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2J2	HGNC	protein_coding	OTTHUMT00000076131.2	-	0	67	0	G			29142185	1	tier1	-	no_errors	ENST00000377167	ensembl	human	known	74_37	missense	48.45	50	47	SNP	0.005	T	T	29142185	G	T	29142185	3	4	110	1	0	0	0	0	1	0	0	0	11042	1319	46	3	775	3	OR2J2	6	29142185	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2957940	29142185	141972882	86	29889											
OR12D3	81797	genome.wustl.edu	37	chr6	29342679	29342679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatgatgacagtgtagCgaagaggattgcagatggca	12	9	15	5	1	1	4	1	2	0	2	1	6	1	5	0	3	2	4	0	3	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:29342679C>T	ENST00000396806.3	-	1	389	c.386G>A	c.(385-387)cGc>cAc	p.R129H	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GACAGTGTAGCGAAGAGGATT	0.493																																																	0													57	58	58					6																	29342679		1510	2709	4219	SO:0001583	missense	0				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"GPCR / Class A : Olfactory receptors"	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.386G>A	6.37:g.29342679C>T	ENSP00000380023:p.Arg129His		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R129H	ENST00000396806.3	37	c.386	CCDS4658.1	6	.	.	.	.	.	.	.	.	.	.	C	1.727	-0.495175	0.04322	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.02258	4.37	4.18	0.195	0.15151	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	N	0.10837	0.055	0.09310	N	0.999999	B	0.18461	0.028	B	0.12837	0.008	T	0.43458	-0.9390	9	0.02654	T	1	-4.4748	4.5294	0.11997	0.1465:0.4338:0.0:0.4197	.	129	Q9UGF7	O12D3_HUMAN	H	129	ENSP00000380023:R129H	ENSP00000366348:R129H	R	-	2	0	OR12D3	29450658	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.173000	0.09854	-0.187000	0.10516	0.195000	0.17529	CGC	OR12D3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000112462		0.493	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D3	HGNC	protein_coding	OTTHUMT00000076056.3	-	0	29	0	C			29342679	-1	tier1	-	no_errors	ENST00000396806	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.349	T	T	29342679	C	T	29342679	3	4	110	1	0	0	0	0	1	0	0	0	10971	768	27	1	568	1	OR12D3	6	29342679	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	200494	29342679	141772388	87	29890											
TULP1	7287	genome.wustl.edu	37	chr6	35471401	35471401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatgatgacggtcatgcGccgggggccacggaagccca	10	4	16	11	4	1	2	1	2	0	0	1	4	1	4	3	5	2	0	3	5	2	0	rs551519696		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:35471401G>C	ENST00000229771.6	-	13	1337	c.1258C>G	c.(1258-1260)Cgc>Ggc	p.R420G	TULP1_ENST00000322263.4_Missense_Mutation_p.R367G	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	420			R -> P (in RP14; no effect on RPE phagocytosis). {ECO:0000269|PubMed:9462750}.		dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						ACGGTCATGCGCCGGGGGCCA	0.657																																					GBM(55;1027 1091 11115 23439)												0													21	22	22					6																	35471401		2200	4298	6498	SO:0001583	missense	0			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.1258C>G	6.37:g.35471401G>C	ENSP00000229771:p.Arg420Gly		O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.R420G	ENST00000229771.6	37	c.1258	CCDS4807.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084782	0.76642	.	.	ENSG00000112041	ENST00000229771;ENST00000322263	D;D	0.97089	-4.24;-4.24	5.16	4.25	0.50352	Tubby, C-terminal (4);	0.244007	0.36034	N	0.002834	D	0.98185	0.9400	M	0.90198	3.095	0.42382	D	0.99249	D;D	0.67145	0.991;0.996	P;P	0.62649	0.785;0.905	D	0.98737	1.0715	10	0.87932	D	0	-26.481	12.6768	0.56899	0.0:0.0:0.6319:0.3681	.	367;420	O00294-2;O00294	.;TULP1_HUMAN	G	420;367	ENSP00000229771:R420G;ENSP00000319414:R367G	ENSP00000229771:R420G	R	-	1	0	TULP1	35579379	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.650000	0.54424	2.398000	0.81561	0.491000	0.48974	CGC	TULP1	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	ENSG00000112041		0.657	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2	-	0	29	0	G			35471401	-1	tier1	-	no_errors	ENST00000229771	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	C	C	35471401	G	C	35471401	3	2	110	1	0	0	0	0	1	0	0	0	16822	1087	38	5	382	5	TULP1	6	35471401	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	6128722	35471401	135643666	88	29891											
POLR1C	9533	genome.wustl.edu	37	chr6	43484854	43484854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagagattgaagatggcgGcttctcaggcggtggaggaa	10	8	18	5	2	1	3	1	1	1	2	2	7	1	6	0	7	0	1	0	7	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:43484854G>T	ENST00000372389.3	+	1	95	c.7G>T	c.(7-9)Gct>Tct	p.A3S	RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Missense_Mutation_p.A3S|YIPF3_ENST00000506469.1_5'Flank|YIPF3_ENST00000372422.2_5'Flank|POLR1C_ENST00000304004.3_Missense_Mutation_p.A3S	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	3					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GAAGATGGCGGCTTCTCAGGC	0.607																																																	0													107	114	112					6																	43484854		2203	4300	6503	SO:0001583	missense	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"RNA polymerase subunits"	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.7G>T	6.37:g.43484854G>T	ENSP00000361465:p.Ala3Ser		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.A3S	ENST00000372389.3	37	c.7	CCDS4901.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.24|15.24	2.774002|2.774002	0.49786|0.49786	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000372389;ENST00000372344;ENST00000304004|ENST00000423780	D;D;T|.	0.82803|.	-1.64;-1.65;-0.67|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.278897|.	0.33875|.	N|.	0.004462|.	T|T	0.57301|0.57301	0.2044|0.2044	L|L	0.40543|0.40543	1.245|1.245	0.50171|0.50171	D|D	0.999851|0.999851	B;B|.	0.13594|.	0.008;0.005|.	B;B|.	0.17722|.	0.019;0.005|.	T|T	0.54098|0.54098	-0.8344|-0.8344	10|5	0.37606|.	T|.	0.19|.	-18.0815|-18.0815	18.7674|18.7674	0.91879|0.91879	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3;3|.	O15160-2;O15160|.	.;RPAC1_HUMAN|.	S|V	3|2	ENSP00000361465:A3S;ENSP00000361419:A3S;ENSP00000307212:A3S|.	ENSP00000307212:A3S|.	A|G	+|+	1|2	0|0	POLR1C|POLR1C	43592832|43592832	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.127000|0.127000	0.20565|0.20565	4.984000|4.984000	0.63838|0.63838	2.527000|2.527000	0.85204|0.85204	0.558000|0.558000	0.71614|0.71614	GCT|GGC	POLR1C	-	NULL	ENSG00000171453		0.607	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	-	0	31	0	G	NM_004875		43484854	1	tier1	-	no_errors	ENST00000372389	ensembl	human	known	74_37	missense	58.00	21	29	SNP	1.000	T	T	43484854	G	T	43484854	3	4	110	1	0	0	0	0	1	0	0	0	12250	1203	42	3	9	3	POLR1C	6	43484854	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	8013453	43484854	127630213	89	29892											
HCRTR2	3062	genome.wustl.edu	37	chr6	55128601	55128601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttatctgcaaatatttcGcaaactctggtgtcgacagg	10	12	10	9	2	2	0	0	0	2	0	4	1	2	0	0	3	2	3	0	3	4	3	rs199660644		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:55128601G>T	ENST00000370862.3	+	4	1079	c.743G>T	c.(742-744)cGc>cTc	p.R248L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAATATTTCGCAAACTCTGG	0.368																																																	0													131	108	116					6																	55128601		2203	4300	6503	SO:0001583	missense	0			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"GPCR / Class A : Hypocretin (orexin) receptors"	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.743G>T	6.37:g.55128601G>T	ENSP00000359899:p.Arg248Leu		Q5VTM0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Orexin_rcpt_2,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_2,prints_NPY_rcpt	p.R248L	ENST00000370862.3	37	c.743	CCDS4956.1	6	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817003	0.50633	.	.	ENSG00000137252	ENST00000370862	T	0.37752	1.18	5.75	5.75	0.90469	GPCR, rhodopsin-like superfamily (1);	0.050304	0.85682	D	0.000000	T	0.30978	0.0782	L	0.49699	1.58	0.45822	D	0.998693	P;P	0.41102	0.505;0.738	B;P	0.52217	0.434;0.693	T	0.04103	-1.0977	10	0.11182	T	0.66	.	14.1313	0.65255	0.0716:0.0:0.9284:0.0	.	248;248	Q548Y0;O43614	.;OX2R_HUMAN	L	248	ENSP00000359899:R248L	ENSP00000359899:R248L	R	+	2	0	HCRTR2	55236560	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	4.009000	0.57110	2.721000	0.93114	0.603000	0.83216	CGC	HCRTR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt	ENSG00000137252		0.368	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	HGNC	protein_coding	OTTHUMT00000043392.1	-	0	38	0	G			55128601	1	tier1	-	no_errors	ENST00000370862	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.998	T	T	55128601	G	T	55128601	3	4	110	1	0	0	0	0	1	0	0	0	7029	1087	38	2	757	2	HCRTR2	6	55128601	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	11643747	55128601	115986466	90	29893											
PRIM2	5558	genome.wustl.edu	37	chr6	57372336	57372336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtctgatgaaagacttcagCctctgctcaatcacctcagg	11	10	8	12	0	6	3	4	2	2	1	6	3	6	3	2	1	2	1	2	1	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:57372336C>A	ENST00000607273.1	+	8	829	c.742C>A	c.(742-744)Cct>Act	p.P248T	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	248					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAGACTTCAGCCTCTGCTCAA	0.418																																																	0													136	122	126					6																	57372336		1925	4150	6075	SO:0001583	missense	0				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"primase, polypeptide 2A (58kD)", "primase, polypeptide 2A, 58kDa"	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.742C>A	6.37:g.57372336C>A	ENSP00000475738:p.Pro248Thr		Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Missense_Mutation	SNP	pfam_DNA_primase_lsu_euk/arc	p.P248T	ENST00000607273.1	37	c.742		6																																																																																			PRIM2	-	pfam_DNA_primase_lsu_euk/arc	ENSG00000146143		0.418	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		-	0	67	0	C	NM_000947		57372336	1	tier1	-	no_errors	ENST00000607273	ensembl	human	known	74_37	missense	15.29	72	13	SNP	1.000	A	A	57372336	C	A	57372336	3	1	110	1	0	0	0	0	1	0	0	0	12533	739	26	3	768	3	PRIM2	6	57372336	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2243735	57372336	113742731	91	29894											
EYS	346007	genome.wustl.edu	37	chr6	65301594	65301594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgataaatggggtccttGctctcctatcaggaaaaaag	14	10	9	8	0	2	1	1	1	1	0	4	2	3	2	2	3	1	1	2	3	6	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:65301594G>T	ENST00000370621.3	-	26	4692	c.4166C>A	c.(4165-4167)gCa>gAa	p.A1389E	EYS_ENST00000503581.1_Missense_Mutation_p.A1389E|EYS_ENST00000370616.2_Missense_Mutation_p.A1389E			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1389					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGGGTCCTTGCTCTCCTATC	0.398																																																	0													72	71	71					6																	65301594		692	1591	2283	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"chromosome 6 open reading frame 180", "EGF-like-domain, multiple 11", "retinitis pigmentosa 25 (autosomal recessive)", "EGF-like-domain, multiple 10", "chromosome 6 open reading frame 178", "chromosome 6 open reading frame 179"	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4166C>A	6.37:g.65301594G>T	ENSP00000359655:p.Ala1389Glu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.A1389E	ENST00000370621.3	37	c.4166		6	.	.	.	.	.	.	.	.	.	.	G	6.833	0.522794	0.13066	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84516	-1.86;-1.84;-1.84	4.9	1.47	0.22746	.	.	.	.	.	T	0.47600	0.1454	N	0.14661	0.345	0.18873	N	0.999986	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33701	-0.9858	9	0.31617	T	0.26	.	2.3222	0.04213	0.1213:0.0992:0.2363:0.5431	.	1389;1389	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	E	1389	ENSP00000424243:A1389E;ENSP00000359655:A1389E;ENSP00000359650:A1389E	ENSP00000359650:A1389E	A	-	2	0	EYS	65358315	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.099000	0.11007	0.174000	0.19809	-0.218000	0.12543	GCA	EYS	-	NULL	ENSG00000188107		0.398	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0	37	0	G	XM_294050		65301594	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	54.35	21	25	SNP	0.016	T	T	65301594	G	T	65301594	3	4	110	1	0	0	0	0	1	0	0	0	5348	1319	46	3	5185	3	EYS	6	65301594	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	7929258	65301594	105813473	92	29895											
BAI3	577	genome.wustl.edu	37	chr6	69665947	69665947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcaagagtggagttcgtgGagccagtgctcagtaacgtg	9	9	16	7	2	1	1	1	0	0	1	2	3	1	3	1	3	3	4	1	3	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:69665947G>T	ENST00000370598.1	+	7	2048	c.1227G>T	c.(1225-1227)tgG>tgT	p.W409C		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	409	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAGTTCGTGGAGCCAGTGCT	0.537																																																	0													105	92	96					6																	69665947		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1227G>T	6.37:g.69665947G>T	ENSP00000359630:p.Trp409Cys		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.W409C	ENST00000370598.1	37	c.1227	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535831	0.85812	.	.	ENSG00000135298	ENST00000370598	T	0.77489	-1.1	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.92397	0.7587	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92182	0.5752	10	0.19590	T	0.45	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	409	O60242	BAI3_HUMAN	C	409	ENSP00000359630:W409C	ENSP00000359630:W409C	W	+	3	0	BAI3	69722668	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.869000	0.99810	2.701000	0.92244	0.591000	0.81541	TGG	BAI3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000135298		0.537	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	42	0	G			69665947	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	48.68	39	37	SNP	1.000	T	T	69665947	G	T	69665947	3	4	110	1	0	0	0	0	1	0	0	0	1301	1183	41	3	1245	3	BAI3	6	69665947	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4364353	69665947	101449120	93	29896											
BAI3	577	genome.wustl.edu	37	chr6	70049228	70049228	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggtctcaacagggcGtctctttggagctcctgtgt	4	16	11	10	1	3	0	1	0	3	0	6	1	4	1	1	3	2	1	1	3	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:70049228G>T	ENST00000370598.1	+	26	4112	c.3291G>T	c.(3289-3291)gcG>gcT	p.A1097A	BAI3_ENST00000238918.8_Silent_p.A303A|BAI3_ENST00000546190.1_Silent_p.A61A	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1097					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAACAGGGCGTCTCTTTGGA	0.473																																																	0													271	251	258					6																	70049228		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"-", "GPCR / Class B : Orphans"	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3291G>T	6.37:g.70049228G>T			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A1097	ENST00000370598.1	37	c.3291	CCDS4968.1	6																																																																																			BAI3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000135298		0.473	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0	72	0	G			70049228	1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	silent	44.87	43	35	SNP	0.487	T	T	70049228	G	T	70049228	2	4	110	1	0	0	0	0	0	0	0	1	1301	1132	40	2		2	BAI3	6	70049228	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	383281	70049228	101065839	94	29897											
IMPG1	3617	genome.wustl.edu	37	chr6	76640719	76640719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcattcctttgtgccagGgccacagaggcctggttcca	6	10	11	14	1	0	1	0	0	0	1	3	1	2	1	5	3	1	2	5	3	0	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:76640719G>T	ENST00000369950.3	-	15	2383	c.2194C>A	c.(2194-2196)Cct>Act	p.P732T	IMPG1_ENST00000369963.3_3'UTR|Y_RNA_ENST00000363170.1_RNA	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTTGTGCCAGGGCCACAGAGG	0.547																																					Pancreas(37;839 1141 2599 26037)												0													122	107	112					6																	76640719		2203	4300	6503	SO:0001583	missense	0			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"sialoprotein associated with cones and rods"	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.2194C>A	6.37:g.76640719G>T	ENSP00000358966:p.Pro732Thr			Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.P732T	ENST00000369950.3	37	c.2194	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	G	11.13	1.546734	0.27652	.	.	ENSG00000112706	ENST00000369950;ENST00000369952	T;T	0.20069	2.1;2.18	5.45	-0.41	0.12374	.	0.232244	0.29159	N	0.012974	T	0.03608	0.0103	L	0.43923	1.385	0.09310	N	1	P	0.39094	0.659	B	0.31101	0.124	T	0.33727	-0.9857	10	0.42905	T	0.14	.	0.9289	0.01331	0.1814:0.2213:0.3562:0.2411	.	732	Q17R60	IMPG1_HUMAN	T	732;93	ENSP00000358966:P732T;ENSP00000358968:P93T	ENSP00000358966:P732T	P	-	1	0	IMPG1	76697439	0.985000	0.35326	0.000000	0.03702	0.006000	0.05464	2.963000	0.49184	0.011000	0.14865	0.461000	0.40582	CCT	IMPG1	-	NULL	ENSG00000112706		0.547	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	-	0	44	0	G	NM_001563		76640719	-1	tier1	-	no_errors	ENST00000369950	ensembl	human	known	74_37	missense	34.78	30	16	SNP	0.000	T	T	76640719	G	T	76640719	3	4	110	1	0	0	0	0	1	0	0	0	7755	1232	43	3	211	3	IMPG1	6	76640719	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	6591491	76640719	94474348	95	29898											
PRSS35	167681	genome.wustl.edu	37	chr6	84233745	84233745	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagatgaggaataaaagTggaggcaagaaacgtcgagg	17	6	15	3	2	0	4	0	2	0	2	1	7	0	6	0	4	1	1	0	4	6	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:84233745T>A	ENST00000369700.3	+	2	762	c.585T>A	c.(583-585)agT>agA	p.S195R	PRSS35_ENST00000536636.1_Missense_Mutation_p.S195R	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	195	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGAATAAAAGTGGAGGCAAGA	0.488																																																	0													83	89	87					6																	84233745		2203	4300	6503	SO:0001583	missense	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.585T>A	6.37:g.84233745T>A	ENSP00000358714:p.Ser195Arg		A8K7B3|Q9BQP6	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.S195R	ENST00000369700.3	37	c.585	CCDS4999.1	6	.	.	.	.	.	.	.	.	.	.	T	4.157	0.027667	0.08054	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	D;D	0.88509	-2.39;-2.39	5.65	-11.3	0.00108	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.247108	0.40728	N	0.001036	T	0.44519	0.1297	N	0.11154	0.105	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51810	-0.8658	10	0.28530	T	0.3	-13.3568	2.3399	0.04257	0.1618:0.3538:0.1579:0.3266	.	195	Q8N3Z0	PRS35_HUMAN	R	195	ENSP00000440870:S195R;ENSP00000358714:S195R	ENSP00000358714:S195R	S	+	3	2	PRSS35	84290464	0.000000	0.05858	0.001000	0.08648	0.131000	0.20780	-1.707000	0.01893	-1.540000	0.01730	-0.464000	0.05259	AGT	PRSS35	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	ENSG00000146250		0.488	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	HGNC	protein_coding	OTTHUMT00000041352.1	-	0	39	0	T	NM_153362		84233745	1	tier1	-	no_errors	ENST00000369700	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.001	A	A	84233745	T	A	84233745	3	1	110	1	0	0	0	0	1	0	0	0	12666	1693	59	5	587	5	PRSS35	6	84233745	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	7593026	84233745	86881322	96	29899											
MICAL1	64780	genome.wustl.edu	37	chr6	109767598	109767598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggcatgctattctcActtggtgtggggagctcctg	4	13	14	10	0	1	0	1	0	1	0	3	1	2	1	2	5	2	3	2	5	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:109767598A>T	ENST00000358807.3	-	19	2633	c.2322T>A	c.(2320-2322)agT>agA	p.S774R	MICAL1_ENST00000358577.3_Missense_Mutation_p.S688R|MICAL1_ENST00000368952.4_Missense_Mutation_p.S793R	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	774					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGCTATTCTCACTTGGTGTGG	0.627																																																	0													56	67	63					6																	109767598		2189	4294	6483	SO:0001583	missense	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"NEDD9 interacting protein with calponin homology and LIM domains"	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2322T>A	6.37:g.109767598A>T	ENSP00000351664:p.Ser774Arg		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S793R	ENST00000358807.3	37	c.2379	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	A	11.35	1.614269	0.28712	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.51325	0.71;0.72;0.71	4.89	-9.78	0.00496	.	2.332770	0.01199	N	0.007524	T	0.09905	0.0243	L	0.29908	0.895	0.09310	N	1	B;P;B	0.34757	0.086;0.467;0.112	B;B;B	0.29176	0.014;0.099;0.024	T	0.05750	-1.0866	9	.	.	.	.	5.5368	0.17016	0.1252:0.3633:0.4113:0.1002	.	793;688;774	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	R	774;793;688;298;30	ENSP00000351664:S774R;ENSP00000357948:S793R;ENSP00000351385:S688R	.	S	-	3	2	MICAL1	109874291	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	-1.088000	0.03379	-1.976000	0.00996	-0.411000	0.06167	AGT	MICAL1	-	NULL	ENSG00000135596		0.627	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	-	0	50	0	A	NM_022765		109767598	-1	tier1	-	no_errors	ENST00000368952	ensembl	human	known	74_37	missense	46.15	42	36	SNP	0.000	T	T	109767598	A	T	109767598	3	4	110	1	0	0	0	0	1	0	0	0	9607	156	6	5	909	5	MICAL1	6	109767598	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	25533853	109767598	61347469	97	29900											
C6orf204	387119	genome.wustl.edu	37	chr6	118786703	118786703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgtgctgtggtcattCtcagtctcttcagctgaaca	6	16	9	10	0	5	1	3	1	3	0	7	1	5	1	0	1	3	3	0	1	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:118786703C>A	ENST00000368491.3	-	13	2904	c.2283G>T	c.(2281-2283)gaG>gaT	p.E761D	CEP85L_ENST00000368488.5_Missense_Mutation_p.E764D	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	761						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TGTGGTCATTCTCAGTCTCTT	0.358																																																	0													207	192	196					6																	118786703		1936	4143	6079	SO:0001583	missense	0			AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 204"	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2283G>T	6.37:g.118786703C>A	ENSP00000357477:p.Glu761Asp		A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	NULL	p.E764D	ENST00000368491.3	37	c.2292	CCDS43498.1	6	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303220	0.40795	.	.	ENSG00000111860	ENST00000368491;ENST00000368488	T;T	0.08984	3.03;3.03	5.54	0.493	0.16878	.	0.000000	0.85682	D	0.000000	T	0.03305	0.0096	L	0.32530	0.975	0.36228	D	0.852452	D	0.59767	0.986	P	0.53224	0.721	T	0.16778	-1.0391	10	0.07325	T	0.83	-9.7005	10.5295	0.44969	0.0:0.4329:0.0:0.5671	.	761	Q5SZL2	CF204_HUMAN	D	761;764	ENSP00000357477:E761D;ENSP00000357474:E764D	ENSP00000357474:E764D	E	-	3	2	C6orf204	118893396	0.991000	0.36638	0.998000	0.56505	0.815000	0.46073	0.213000	0.17521	0.087000	0.17167	0.591000	0.81541	GAG	CEP85L	-	NULL	ENSG00000111860		0.358	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP85L	HGNC	protein_coding	OTTHUMT00000041996.2	-	0	45	0	C	NM_001042475		118786703	-1	tier1	-	no_errors	ENST00000368488	ensembl	human	known	74_37	missense	55.00	27	33	SNP	0.995	A	A	118786703	C	A	118786703	3	1	110	1	0	0	0	0	1	0	0	0	2360	912	32	3	138	3	C6orf204	6	118786703	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	9019105	118786703	52328364	98	29901											
TULP4	56995	genome.wustl.edu	37	chr6	158922786	158922786	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcaccgatccacagctcGgctcaggctatgtcccccac	8	8	8	17	2	1	0	1	0	0	0	4	1	3	0	4	2	2	4	4	2	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:158922786G>A	ENST00000367097.3	+	13	3448	c.2091G>A	c.(2089-2091)tcG>tcA	p.S697S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	697					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCCACAGCTCGGCTCAGGCTA	0.537																																																	0													133	116	122					6																	158922786		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"WD repeat domain containing"	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2091G>A	6.37:g.158922786G>A			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S697	ENST00000367097.3	37	c.2091	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.537	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	-	0	47	0	G	NM_020245		158922786	1	tier1	-	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	51.16	21	22	SNP	1.000	A	A	158922786	G	A	158922786	2	1	110	1	0	0	0	0	0	0	0	1	16825	1103	39	1		1	TULP4	6	158922786	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	40136083	158922786	12192281	99	29902											
SLC22A1	6580	genome.wustl.edu	37	chr6	160575942	160575942	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcccctcattttgtttGgtaagattttgtggagcata	7	17	9	8	0	1	1	1	0	0	1	1	2	1	2	3	2	2	3	3	2	2	8			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr6:160575942G>C	ENST00000366963.4	+	9	1645	c.1498G>C	c.(1498-1500)Gcg>Ccg	p.A500P	SLC22A1_ENST00000457470.2_Intron|SLC22A1_ENST00000324965.4_Intron	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	500					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CATTTTGTTTGGTAAGATTTT	0.493																																																	0													148	121	130					6																	160575942		2203	4300	6503	SO:0001630	splice_region_variant	0			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"Solute carriers"	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1498+1G>C	6.37:g.160575942G>C			A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A500P	ENST00000366963.4	37	c.1498	CCDS5274.1	6	.	.	.	.	.	.	.	.	.	.	G	17.32	3.361018	0.61403	.	.	ENSG00000175003	ENST00000366963	T	0.63913	-0.07	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.446506	0.22160	N	0.063787	T	0.77751	0.4177	M	0.88704	2.975	0.80722	D	1	P	0.44877	0.845	P	0.59424	0.857	T	0.81197	-0.1042	10	0.72032	D	0.01	.	16.1783	0.81884	0.0:0.0:1.0:0.0	.	500	O15245	S22A1_HUMAN	P	500	ENSP00000355930:A500P	ENSP00000355930:A500P	A	+	1	0	SLC22A1	160495932	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	4.825000	0.62708	2.523000	0.85059	0.655000	0.94253	GCG	SLC22A1	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000175003		0.493	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	-	0	84	0	G		Missense_Mutation	160575942	1	tier1	-	no_errors	ENST00000366963	ensembl	human	known	74_37	missense	48.72	40	38	SNP	1.000	C	C	160575942	G	C	160575942	5	2	110	1	0	0	0	0	0	0	1	0	14485	1362	47	5	1532	5	SLC22A1	6	160575942	Splice_Site	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1653156	160575942	10539125	100	29903											
RADIL	55698	genome.wustl.edu	37	chr7	4874577	4874577	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcaggggctgggcctgCgcggggtccttgaatagcag	5	6	20	10	3	0	1	0	1	0	0	1	1	1	1	2	6	2	3	2	6	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:4874577C>A	ENST00000399583.3	-	4	1264	c.1077G>T	c.(1075-1077)gcG>gcT	p.A359A	RADIL_ENST00000538469.1_Silent_p.A119A|RADIL_ENST00000536091.1_Silent_p.A359A	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	359	FHA.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTGGGCCTGCGCGGGGTCCT	0.746																																																	0													9	12	11					7																	4874577		1855	4073	5928	SO:0001819	synonymous_variant	0			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.1077G>T	7.37:g.4874577C>A			A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc	p.A358S	ENST00000399583.3	37	c.1072	CCDS43544.1	7																																																																																			RADIL	-	NULL	ENSG00000157927		0.746	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	-	0	23	0	C	NM_018059		4874577	-1	tier1	-	no_errors	ENST00000445392	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.001	A	A	4874577	C	A	4874577	2	1	110	1	0	0	0	0	0	0	0	1	13042	755	27	2		2	RADIL	7	4874577	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		4874577	154264086	101	29904											
PRR15	222171	genome.wustl.edu	37	chr7	29606258	29606258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagaggaaagtgcgcGccacgctgctcccggaggcg	10	3	17	11	5	0	2	0	0	0	2	1	5	1	4	2	4	2	2	2	4	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:29606258G>T	ENST00000319694.2	+	2	1025	c.313G>T	c.(313-315)Gcc>Tcc	p.A105S	AC007255.8_ENST00000450540.2_RNA|AC007255.8_ENST00000447171.1_RNA	NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	105					multicellular organismal development (GO:0007275)					endometrium(1)|lung(1)|skin(1)	3						GAAAGTGCGCGCCACGCTGCT	0.637																																																	0													8	9	9					7																	29606258		2187	4287	6474	SO:0001583	missense	0			BC029131	CCDS5421.1	7p15.1	2006-08-21			ENSG00000176532	ENSG00000176532			22310	protein-coding gene	gene with protein product						12477932	Standard	NM_175887		Approved		uc003tac.1	Q8IV56	OTTHUMG00000128555	ENST00000319694.2:c.313G>T	7.37:g.29606258G>T	ENSP00000317836:p.Ala105Ser			Missense_Mutation	SNP	NULL	p.A105S	ENST00000319694.2	37	c.313	CCDS5421.1	7	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644598	0.67358	.	.	ENSG00000176532	ENST00000319694	T	0.56444	0.46	4.99	4.99	0.66335	.	0.167110	0.40554	N	0.001073	T	0.63426	0.2510	L	0.41632	1.29	0.44603	D	0.997579	D	0.76494	0.999	D	0.68765	0.96	T	0.64219	-0.6459	10	0.49607	T	0.09	-18.3826	15.7838	0.78286	0.0:0.0:1.0:0.0	.	105	Q8IV56	PRR15_HUMAN	S	105	ENSP00000317836:A105S	ENSP00000317836:A105S	A	+	1	0	PRR15	29572783	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	3.835000	0.55805	2.324000	0.78689	0.313000	0.20887	GCC	PRR15	-	NULL	ENSG00000176532		0.637	PRR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR15	HGNC	protein_coding	OTTHUMT00000250402.2	-	0	27	0	G	NM_175887		29606258	1	tier1	-	no_errors	ENST00000319694	ensembl	human	known	74_37	missense	76.92	3	10	SNP	1.000	T	T	29606258	G	T	29606258	3	4	110	1	0	0	0	0	1	0	0	0	12629	1087	38	2	315	2	PRR15	7	29606258	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	24731681	29606258	129532405	102	29905											
HIP1	3092	genome.wustl.edu	37	chr7	75186055	75186055	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccttgcagaacctgaagctCccgttggcttgtggcaagtt	7	11	12	11	1	0	2	0	1	0	1	1	2	1	2	3	2	3	6	3	2	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:75186055C>A	ENST00000336926.6	-	17	1668	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E548*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	548					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACCTGAAGCTCCCGTTGGCTT	0.463			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													116	118	117					7																	75186055		2203	4300	6503	SO:0001587	stop_gained	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1642G>T	7.37:g.75186055C>A	ENSP00000336747:p.Glu548*		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Nonsense_Mutation	SNP	pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom	p.E548*	ENST00000336926.6	37	c.1642	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584585	0.86748	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.93	5.93	0.95920	.	0.043952	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-30.1925	17.0504	0.86517	0.0:1.0:0.0:0.0	.	.	.	.	X	548	.	ENSP00000336747:E548X	E	-	1	0	HIP1	75023991	1.000000	0.71417	0.962000	0.40283	0.008000	0.06430	4.528000	0.60580	2.797000	0.96272	0.655000	0.94253	GAG	HIP1	-	NULL	ENSG00000127946		0.463	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	-	0	24	0	C	NM_005338		75186055	-1	tier1	-	no_errors	ENST00000336926	ensembl	human	known	74_37	nonsense	66.67	6	12	SNP	0.997	A	A	75186055	C	A	75186055	4	1	110	1	0	0	0	0	0	1	0	0	7141	864	30	3	1531	3	HIP1	7	75186055	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	45579797	75186055	83952608	103	29906											
MAGI2	9863	genome.wustl.edu	37	chr7	77797398	77797398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatctctgtcggctgagcCcatggcaatgacagctccaa	9	8	10	14	1	1	2	0	2	1	0	4	2	2	2	3	2	2	3	3	2	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:77797398C>A	ENST00000354212.4	-	15	2684	c.2431G>T	c.(2431-2433)Ggc>Tgc	p.G811C	MAGI2_ENST00000419488.1_Missense_Mutation_p.G797C|MAGI2_ENST00000522391.1_Missense_Mutation_p.G811C	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	811	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCGGCTGAGCCCATGGCAATG	0.458																																																	0													96	92	93					7																	77797398		2203	4300	6503	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2431G>T	7.37:g.77797398C>A	ENSP00000346151:p.Gly811Cys		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.G811C	ENST00000354212.4	37	c.2431	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304645	0.81136	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.56275	0.47;0.58;0.58	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002175	T	0.81795	0.4898	H	0.95294	3.65	0.80722	D	1	D;D;D	0.89917	0.99;1.0;0.997	P;D;P	0.72982	0.873;0.979;0.873	D	0.86332	0.1699	10	0.87932	D	0	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	811;797;811	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	C	797;811;811;811	ENSP00000405766:G797C;ENSP00000346151:G811C;ENSP00000428389:G811C	ENSP00000346151:G811C	G	-	1	0	MAGI2	77635334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.586000	0.60984	2.831000	0.97527	0.650000	0.86243	GGC	MAGI2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000187391		0.458	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3	-	0	75	0	C	NM_012301		77797398	-1	tier1	-	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	48.05	40	37	SNP	1.000	A	A	77797398	C	A	77797398	3	1	110	1	0	0	0	0	1	0	0	0	9229	623	22	3	1968	3	MAGI2	7	77797398	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2611343	77797398	81341265	104	29907											
KIAA1324L	222223	genome.wustl.edu	37	chr7	86577054	86577054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcttacttgttacagccGtctggcctgctgtcagaagg	7	13	11	10	1	3	1	1	0	2	1	3	2	3	1	2	2	4	2	2	2	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:86577054G>C	ENST00000450689.2	-	3	680	c.495C>G	c.(493-495)gaC>gaG	p.D165E	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.D165E|KIAA1324L_ENST00000416314.1_Intron	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	165						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TGTTACAGCCGTCTGGCCTGC	0.433																																																	0													74	61	65					7																	86577054		692	1591	2283	SO:0001583	missense	0			AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"EIG121-like"	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.495C>G	7.37:g.86577054G>C	ENSP00000413445:p.Asp165Glu		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.D165E	ENST00000450689.2	37	c.495	CCDS47632.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.745|8.745	0.919786|0.919786	0.17982|0.17982	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000444627;ENST00000398276;ENST00000425689|ENST00000423294	T;T;T;T|.	0.29655|.	1.56;1.56;1.56;1.56|.	5.82|5.82	-3.31|-3.31	0.04988|0.04988	.|.	1.175590|.	0.07355|.	U|.	0.883016|.	T|T	0.42562|0.42562	0.1208|0.1208	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.12156|.	0.007|.	T|T	0.22208|0.22208	-1.0223|-1.0223	10|5	0.05436|.	T|.	0.98|.	.|.	9.5906|9.5906	0.39543|0.39543	0.3057:0.1068:0.5875:0.0|0.3057:0.1068:0.5875:0.0	.|.	165|.	A8MWY0|.	K132L_HUMAN|.	E|G	165;165;51;51|126	ENSP00000413445:D165E;ENSP00000397377:D165E;ENSP00000381325:D51E;ENSP00000410045:D51E|.	ENSP00000381325:D51E|.	D|R	-|-	3|1	2|2	KIAA1324L|KIAA1324L	86414990|86414990	0.925000|0.925000	0.31364|0.31364	0.943000|0.943000	0.38184|0.38184	0.990000|0.990000	0.78478|0.78478	0.001000|0.001000	0.13038|0.13038	-0.584000|-0.584000	0.05913|0.05913	-0.225000|-0.225000	0.12378|0.12378	GAC|CGG	KIAA1324L	-	superfamily_Growth_fac_rcpt_N_dom	ENSG00000164659		0.433	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	HGNC	protein_coding	OTTHUMT00000333372.3	-	0	17	0	G	NM_152748		86577054	-1	tier1	-	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.988	C	C	86577054	G	C	86577054	3	2	110	1	0	0	0	0	1	0	0	0	8251	1136	40	5	2674	5	KIAA1324L	7	86577054	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	8779656	86577054	72561609	105	29908											
ABCB1	5243	genome.wustl.edu	37	chr7	87196171	87196171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctcctgtcgcattatagCatgaaaaaactgttttctaa	13	15	5	8	1	2	1	0	1	2	0	4	1	2	1	1	0	2	3	1	0	7	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:87196171C>A	ENST00000265724.3	-	7	877	c.460G>T	c.(460-462)Gct>Tct	p.A154S	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	154	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CGCATTATAGCATGAAAAAAC	0.423																																																	0													135	138	137					7																	87196171		2203	4300	6503	SO:0001583	missense	0			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"CD molecules", "ATP binding cassette transporters / subfamily B"	40	protein-coding gene	gene with protein product	"multidrug resistance protein 1"	171050	"colchicin sensitivity"	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.460G>T	7.37:g.87196171C>A	ENSP00000265724:p.Ala154Ser		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A154S	ENST00000265724.3	37	c.460	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	C	10.69	1.419874	0.25552	.	.	ENSG00000085563	ENST00000265724	D	0.90004	-2.6	5.91	1.77	0.24775	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.494167	0.23537	N	0.047108	D	0.84083	0.5394	L	0.33710	1.025	0.80722	D	1	B	0.12013	0.005	B	0.31751	0.135	T	0.73678	-0.3907	10	0.18276	T	0.48	-6.7113	15.7006	0.77538	0.4656:0.5344:0.0:0.0	.	154	P08183	MDR1_HUMAN	S	154	ENSP00000265724:A154S	ENSP00000265724:A154S	A	-	1	0	ABCB1	87034107	0.082000	0.21442	0.975000	0.42487	0.914000	0.54420	0.084000	0.14891	0.341000	0.23771	-0.182000	0.12963	GCT	ABCB1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000085563		0.423	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	-	0	43	0	C	NM_000927		87196171	-1	tier1	-	no_errors	ENST00000265724	ensembl	human	known	74_37	missense	85.46	33	194	SNP	0.952	A	A	87196171	C	A	87196171	3	1	110	1	0	0	0	0	1	0	0	0	40	710	25	3	3474	3	ABCB1	7	87196171	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	619117	87196171	71942492	106	29909											
GRM8	2918	genome.wustl.edu	37	chr7	126883165	126883165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggcatactcctggctgtGagttctttgcatcattgtga	7	15	11	8	0	2	2	1	2	1	0	3	2	3	2	1	2	2	4	1	2	1	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:126883165G>A	ENST00000339582.2	-	2	902	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	GRM8_ENST00000358373.3_Missense_Mutation_p.H32Y|GRM8_ENST00000405249.1_Missense_Mutation_p.H32Y|GRM8_ENST00000444921.2_Missense_Mutation_p.H32Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	32					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TCCTGGCTGTGAGTTCTTTGC	0.527										HNSCC(24;0.065)																																							0													93	91	92					7																	126883165		2203	4300	6503	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.94C>T	7.37:g.126883165G>A	ENSP00000344173:p.His32Tyr		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.H32Y	ENST00000339582.2	37	c.94	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944085	0.34283	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33	6.17	6.17	0.99709	.	0.195940	0.43747	D	0.000526	T	0.50274	0.1606	L	0.27053	0.805	0.26492	N	0.97493	P;B	0.35575	0.51;0.002	B;B	0.31547	0.132;0.004	T	0.53041	-0.8494	10	0.48119	T	0.1	.	9.8527	0.41066	0.0709:0.0:0.7894:0.1397	.	32;32	O00222-2;O00222	.;GRM8_HUMAN	Y	32	ENSP00000344173:H32Y;ENSP00000409790:H32Y;ENSP00000351142:H32Y;ENSP00000385731:H32Y;ENSP00000415522:H32Y	ENSP00000344173:H32Y	H	-	1	0	GRM8	126670401	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.800000	0.55537	2.941000	0.99782	0.655000	0.94253	CAC	GRM8	-	prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt_4	ENSG00000179603		0.527	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	HGNC	protein_coding	OTTHUMT00000059209.4	-	0	22	0	G			126883165	-1	tier1	-	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	41.67	21	15	SNP	1.000	A	A	126883165	G	A	126883165	3	1	110	1	0	0	0	0	1	0	0	0	6830	1290	45	3	2722	3	GRM8	7	126883165	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	39686994	126883165	32255498	107	29910											
CALU	813	genome.wustl.edu	37	chr7	128388853	128388853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagaagagagcaaggaaagGcttgggtaaggtaccacctc	14	5	13	9	0	0	2	0	0	0	2	1	4	0	3	3	4	2	4	3	4	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:128388853G>T	ENST00000249364.4	+	2	318	c.216G>T	c.(214-216)agG>agT	p.R72S	CALU_ENST00000542996.2_Missense_Mutation_p.R80S|CALU_ENST00000535623.1_Missense_Mutation_p.R80S|CALU_ENST00000535011.2_Missense_Mutation_p.R72S|CALU_ENST00000479257.1_Missense_Mutation_p.R80S|CALU_ENST00000449187.2_Missense_Mutation_p.R72S|CALU_ENST00000538546.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	72	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GCAAGGAAAGGCTTGGGTAAG	0.418																																																	0													79	73	75					7																	128388853		2203	4300	6503	SO:0001583	missense	0			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"EF-hand domain containing"	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.216G>T	7.37:g.128388853G>T	ENSP00000249364:p.Arg72Ser		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R80S	ENST00000249364.4	37	c.240	CCDS5805.1	7	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982160	0.74474	.	.	ENSG00000128595	ENST00000542996;ENST00000535623;ENST00000538394;ENST00000537667;ENST00000535011;ENST00000537014;ENST00000249364;ENST00000449187;ENST00000342367;ENST00000479257	T;T;T;T;T;T	0.65916	2.46;-0.18;3.09;2.48;2.46;2.47	6.03	-2.79	0.05841	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;0.97	D;P	0.91635	0.999;0.847	T	0.79349	-0.1840	10	0.56958	D	0.05	-10.8307	12.7008	0.57032	0.4509:0.0:0.5491:0.0	.	80;72	D6QS48;O43852	.;CALU_HUMAN	S	80;80;72;72;72;72;72;72;72;80	ENSP00000438248:R80S;ENSP00000439139:R80S;ENSP00000442110:R72S;ENSP00000249364:R72S;ENSP00000408838:R72S;ENSP00000420381:R80S	ENSP00000249364:R72S	R	+	3	2	CALU	128176089	0.331000	0.24713	0.984000	0.44739	0.996000	0.88848	-0.173000	0.09854	-0.407000	0.07576	0.655000	0.94253	AGG	CALU	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000128595		0.418	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALU	HGNC	protein_coding	OTTHUMT00000350533.1		0	13	0	G	NM_001219		128388853	1			no_errors	ENST00000479257	ensembl	human	known	74_37	missense	15.38	22	4	SNP	0.902	T	T	128388853	G	T	128388853	3	4	110	1	0	0	0	0	1	0	0	0	2601	1194	42	3	218	3	CALU	7	128388853	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1505688	128388853	30749810	108	29911											
DGKI	9162	genome.wustl.edu	37	chr7	137172381	137172381	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggcggtctatgtacataCggcaagtctccaaatcacag	12	9	10	10	2	3	0	1	0	2	0	4	0	3	0	1	3	2	3	1	3	6	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:137172381C>G	ENST00000288490.5	-	23	2357	c.2357G>C	c.(2356-2358)cGt>cCt	p.R786P	DGKI_ENST00000453654.2_Missense_Mutation_p.R486P|DGKI_ENST00000446122.1_Missense_Mutation_p.R768P|DGKI_ENST00000424189.2_Missense_Mutation_p.R789P	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	786					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TATGTACATACGGCAAGTCTC	0.363																																																	0													151	157	155					7																	137172381		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2357G>C	7.37:g.137172381C>G	ENSP00000288490:p.Arg786Pro		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R786P	ENST00000288490.5	37	c.2357	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590874	0.86851	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.44083	1.48;0.93;0.97	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69895	-0.5021	10	0.87932	D	0	.	19.0482	0.93030	0.0:1.0:0.0:0.0	.	486;786	E9PFX6;O75912	.;DGKI_HUMAN	P	486;734;789;786;768	ENSP00000392161:R486P;ENSP00000288490:R786P;ENSP00000399131:R768P	ENSP00000288490:R786P	R	-	2	0	DGKI	136822921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.102000	0.64572	2.808000	0.96608	0.650000	0.86243	CGT	DGKI	-	NULL	ENSG00000157680		0.363	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	17	0	C	NM_004717		137172381	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	39.13	14	9	SNP	1.000	G	G	137172381	C	G	137172381	3	3	110	1	0	0	0	0	1	0	0	0	4485	536	19	5	888	5	DGKI	7	137172381	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	8783528	137172381	21966282	109	29912											
DGKI	9162	genome.wustl.edu	37	chr7	137284581	137284581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacttacgcatcttttggcCcttcctgagaaagatcaaag	12	11	8	10	1	2	3	1	1	1	3	3	4	3	3	2	1	1	1	2	1	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:137284581C>A	ENST00000288490.5	-	11	1238	c.1238G>T	c.(1237-1239)gGg>gTg	p.G413V	DGKI_ENST00000453654.2_Missense_Mutation_p.G113V|DGKI_ENST00000446122.1_Missense_Mutation_p.G413V|DGKI_ENST00000424189.2_Missense_Mutation_p.G413V	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	413	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCTTTTGGCCCTTCCTGAGA	0.388																																																	0													115	109	111					7																	137284581		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"Ankyrin repeat domain containing"	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1238G>T	7.37:g.137284581C>A	ENSP00000288490:p.Gly413Val		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G413V	ENST00000288490.5	37	c.1238	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633918	0.87660	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.26957	1.7;1.7;1.7	5.83	5.83	0.93111	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70321	-0.4904	10	0.87932	D	0	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	113;413	E9PFX6;O75912	.;DGKI_HUMAN	V	113;361;413;413;413	ENSP00000392161:G113V;ENSP00000288490:G413V;ENSP00000399131:G413V	ENSP00000288490:G413V	G	-	2	0	DGKI	136935121	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.085000	0.76875	2.757000	0.94681	0.563000	0.77884	GGG	DGKI	-	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	ENSG00000157680		0.388	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3	-	0	16	0	C	NM_004717		137284581	-1	tier1	-	no_errors	ENST00000288490	ensembl	human	known	74_37	missense	63.64	8	14	SNP	1.000	A	A	137284581	C	A	137284581	3	1	110	1	0	0	0	0	1	0	0	0	4485	623	22	3	2055	3	DGKI	7	137284581	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	112200	137284581	21854082	110	29913											
ZNF425	155054	genome.wustl.edu	37	chr7	148800755	148800755	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcaatgtgggtcttgagCgcccccacgtacgtgaagct	8	9	12	12	3	1	2	0	2	1	0	1	2	1	2	2	1	4	3	2	1	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:148800755C>A	ENST00000378061.2	-	4	2340	c.2208G>T	c.(2206-2208)gcG>gcT	p.A736A		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	736					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGGTCTTGAGCGCCCCCACGT	0.577																																																	0													61	54	57					7																	148800755		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"Zinc fingers, C2H2-type", "-"	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2208G>T	7.37:g.148800755C>A			B3KPM1|Q08AG3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.A736	ENST00000378061.2	37	c.2208	CCDS34773.1	7																																																																																			ZNF425	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204947		0.577	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0	31	0	C	XM_088140		148800755	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	silent	77.27	5	17	SNP	0.000	A	A	148800755	C	A	148800755	2	1	110	1	0	0	0	0	0	0	0	1	17947	755	27	2		2	ZNF425	7	148800755	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	11516174	148800755	10337908	111	29914											
DPP6	1804	genome.wustl.edu	37	chr7	154237656	154237656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagaaaggaacagtgaGactgtggaatgttgaaacaa	19	6	12	4	0	0	4	0	2	0	3	0	7	0	6	0	2	3	1	0	2	6	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:154237656G>T	ENST00000377770.3	+	4	638	c.497G>T	c.(496-498)aGa>aTa	p.R166I	DPP6_ENST00000404039.1_Missense_Mutation_p.R102I|DPP6_ENST00000332007.3_Missense_Mutation_p.R104I|DPP6_ENST00000427557.1_Missense_Mutation_p.R104I|DPP6_ENST00000406326.1_Missense_Mutation_p.R166I|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	166					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGAACAGTGAGACTGTGGAAT	0.348																																					NSCLC(125;1384 1783 2490 7422 34254)												0													75	71	72					7																	154237656		1834	4089	5923	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"dipeptidylpeptidase VI", "dipeptidylpeptidase 6"			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.497G>T	7.37:g.154237656G>T	ENSP00000367001:p.Arg166Ile			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.R166I	ENST00000377770.3	37	c.497		7	.	.	.	.	.	.	.	.	.	.	G	1.096	-0.662492	0.03454	.	.	ENSG00000130226	ENST00000404039;ENST00000406326;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.2	4.04	0.47022	.	0.445445	0.27797	N	0.017816	T	0.19725	0.0474	.	.	.	0.36171	D	0.848759	B;B;B;B;B	0.13145	0.0;0.0;0.0;0.007;0.0	B;B;B;B;B	0.14023	0.0;0.0;0.0;0.01;0.0	T	0.18429	-1.0337	9	0.02654	T	1	-4.6552	10.4366	0.44439	0.0:0.0:0.1936:0.8064	.	104;104;166;166;102	E9PDL2;P42658-2;P42658;Q8IYG9;E9PF59	.;.;DPP6_HUMAN;.;.	I	102;166;166;104;104	ENSP00000385578:R102I;ENSP00000384393:R166I;ENSP00000367001:R166I;ENSP00000328226:R104I;ENSP00000397303:R104I	ENSP00000328226:R104I	R	+	2	0	DPP6	153868589	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	2.881000	0.48538	0.902000	0.36520	-0.309000	0.09137	AGA	DPP6	-	NULL	ENSG00000130226		0.348	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	-	0	12	0	G	NM_130797		154237656	1	tier1	-	no_errors	ENST00000377770	ensembl	human	known	74_37	missense	76.92	3	10	SNP	1.000	T	T	154237656	G	T	154237656	3	4	110	1	0	0	0	0	1	0	0	0	4744	942	33	3	627	3	DPP6	7	154237656	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	5436901	154237656	4901007	112	29915											
PAXIP1	22976	genome.wustl.edu	37	chr7	154785468	154785468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacactgaacggacagaatCacccaagaaggctgaaaaag	18	3	9	11	1	1	4	1	2	0	2	1	5	1	5	2	2	1	1	2	2	6	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr7:154785468C>T	ENST00000404141.1	-	3	382	c.228G>A	c.(226-228)gtG>gtA	p.V76V	PAXIP1_ENST00000397192.1_Silent_p.V76V|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	76	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CGGACAGAATCACCCAAGAAG	0.358																																																	0													81	72	74					7																	154785468		1807	4074	5881	SO:0001819	synonymous_variant	0			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"PAX transcription activation domain interacting protein 1 like"	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.228G>A	7.37:g.154785468C>T			O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Silent	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.V76	ENST00000404141.1	37	c.228	CCDS47753.1	7																																																																																			PAXIP1	-	superfamily_BRCT_dom,pfscan_BRCT_dom	ENSG00000157212		0.358	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	HGNC	protein_coding	OTTHUMT00000322223.1	-	0	17	0	C	NM_007349		154785468	-1	tier1	-	no_errors	ENST00000397192	ensembl	human	known	74_37	silent	81.82	2	9	SNP	1.000	T	T	154785468	C	T	154785468	2	4	110	1	0	0	0	0	0	0	0	1	11526	813	29	3		3	PAXIP1	7	154785468	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	547812	154785468	4353195	113	29916											
DEFB136	613210	genome.wustl.edu	37	chr8	11831522	11831522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagacagaatattgtggCagaacgcaatccacctgtat	15	8	9	9	1	0	3	0	0	0	3	1	3	1	3	2	1	2	4	2	1	6	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:11831522C>A	ENST00000382209.2	-	2	160	c.161G>T	c.(160-162)tGc>tTc	p.C54F		NM_001033018.2	NP_001028190.2	Q30KP8	DB136_HUMAN	defensin, beta 136	54					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		AATATTGTGGCAGAACGCAAT	0.458																																																	0													204	204	204					8																	11831522		1977	4157	6134	SO:0001583	missense	0			DQ012026	CCDS43709.1	8p23.1	2011-07-19			ENSG00000205884	ENSG00000205884		"Defensins, beta"	34433	protein-coding gene	gene with protein product						16033865	Standard	NM_001033018		Approved	DEFB137	uc011kxm.2	Q30KP8	OTTHUMG00000158720	ENST00000382209.2:c.161G>T	8.37:g.11831522C>A	ENSP00000371644:p.Cys54Phe		Q4QY36	Missense_Mutation	SNP	NULL	p.C54F	ENST00000382209.2	37	c.161	CCDS43709.1	8	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893492	0.52121	.	.	ENSG00000205884	ENST00000382209	T	0.54675	0.56	4.06	4.06	0.47325	.	0.000000	0.53938	D	0.000044	T	0.69869	0.3159	.	.	.	0.35915	D	0.831351	D	0.89917	1.0	D	0.91635	0.999	T	0.78214	-0.2291	9	0.87932	D	0	1.9829	12.039	0.53442	0.0:1.0:0.0:0.0	.	54	Q30KP8	DB136_HUMAN	F	54	ENSP00000371644:C54F	ENSP00000371644:C54F	C	-	2	0	DEFB136	11868931	0.998000	0.40836	0.469000	0.27204	0.030000	0.12068	1.198000	0.32223	2.551000	0.86045	0.555000	0.69702	TGC	DEFB136	-	NULL	ENSG00000205884		0.458	DEFB136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB136	HGNC	protein_coding	OTTHUMT00000351889.1	-	0	32	0	C	NM_001033018		11831522	-1	tier1	-	no_errors	ENST00000382209	ensembl	human	known	74_37	missense	82.61	4	19	SNP	0.557	A	A	11831522	C	A	11831522	3	1	110	1	0	0	0	0	1	0	0	0	4434	710	25	3	77	3	DEFB136	8	11831522	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		11831522	134532500	114	29917											
ADRA1A	148	genome.wustl.edu	37	chr8	26627766	26627766	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttgagggccctacacagCagcagacctgcaaaaagctt	12	6	12	11	0	0	2	0	1	0	1	0	2	0	2	2	2	5	5	2	2	3	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:26627766C>A	ENST00000380573.3	-	3	2324	c.1301G>T	c.(1300-1302)tGc>tTc	p.C434F	ADRA1A_ENST00000354550.4_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.C434F|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CCCTACACAGCAGCAGACCTG	0.532																																																	0													161	159	159					8																	26627766		2203	4300	6503	SO:0001583	missense	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380573.3:c.1301G>T	8.37:g.26627766C>A	ENSP00000369947:p.Cys434Phe		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.C434F	ENST00000380573.3	37	c.1301	CCDS6054.1	8	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412120	0.83340	.	.	ENSG00000120907	ENST00000276393;ENST00000380573	T;T	0.70869	-0.52;-0.52	5.85	5.85	0.93711	.	.	.	.	.	T	0.81744	0.4887	M	0.68952	2.095	0.80722	D	1	D	0.64830	0.994	P	0.58577	0.841	T	0.82729	-0.0313	9	0.87932	D	0	.	19.7757	0.96391	0.0:1.0:0.0:0.0	.	434	P35348	ADA1A_HUMAN	F	434	ENSP00000276393:C434F;ENSP00000369947:C434F	ENSP00000276393:C434F	C	-	2	0	ADRA1A	26683683	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.916000	0.75776	2.768000	0.95171	0.655000	0.94253	TGC	ADRA1A	-	NULL	ENSG00000120907		0.532	ADRA1A-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADRA1A	HGNC	protein_coding	OTTHUMT00000376208.1	-	0	80	0	C	NM_033303		26627766	-1	tier1	-	no_errors	ENST00000276393	ensembl	human	known	74_37	missense	83.33	7	35	SNP	1.000	A	A	26627766	C	A	26627766	3	1	110	1	0	0	0	0	1	0	0	0	334	710	25	3	394	3	ADRA1A	8	26627766	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	14796244	26627766	119736256	115	29918											
KIF13B	23303	genome.wustl.edu	37	chr8	28981543	28981543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttgtttttcctaccaCgtttactgacaagcttttgc	7	19	5	10	1	1	1	0	1	1	0	2	1	2	1	2	0	4	3	2	0	4	9			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:28981543C>A	ENST00000524189.1	-	27	3388	c.3350G>T	c.(3349-3351)cGt>cTt	p.R1117L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1117					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTTCCTACCACGTTTACTGAC	0.363																																																	0													159	138	145					8																	28981543		1847	4095	5942	SO:0001583	missense	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"Kinesins"	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3350G>T	8.37:g.28981543C>A	ENSP00000427900:p.Arg1117Leu		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1117L	ENST00000524189.1	37	c.3350	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	C	9.903	1.207391	0.22205	.	.	ENSG00000197892	ENST00000524189	T	0.75821	-0.97	5.14	-4.63	0.03359	.	0.486110	0.24592	N	0.037214	T	0.48589	0.1508	N	0.08118	0	0.80722	D	1	B	0.16603	0.018	B	0.26094	0.066	T	0.04281	-1.0963	10	0.36615	T	0.2	.	9.6747	0.40034	0.0:0.1468:0.518:0.3351	.	1117	F8VPJ2	.	L	1117	ENSP00000427900:R1117L	ENSP00000427900:R1117L	R	-	2	0	KIF13B	29037462	0.683000	0.27633	0.985000	0.45067	0.443000	0.32047	0.220000	0.17660	-0.469000	0.06911	-1.326000	0.01283	CGT	KIF13B	-	NULL	ENSG00000197892		0.363	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1		0	33	0	C			28981543	-1			no_errors	ENST00000524189	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.960	A	A	28981543	C	A	28981543	3	1	110	1	0	0	0	0	1	0	0	0	8302	536	19	2	2186	2	KIF13B	8	28981543	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2353777	28981543	117382479	116	29919											
BRF2	25960	genome.wustl.edu	37	chr8	37702674	37702674	+	IGR	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgttcgagacagcatcttCtctttgtcttccacgtattt	7	18	6	10	2	3	1	0	0	3	1	6	2	4	1	1	0	1	3	1	0	1	7			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:37702674C>T	ENST00000412232.2	+	0	5651				BRF2_ENST00000220659.6_Silent_p.E198E|BRF2_ENST00000520601.1_3'UTR	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACAGCATCTTCTCTTTGTCTT	0.498																																																	0													71	71	71					8																	37702674		2203	4300	6503	SO:0001628	intergenic_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702674C>T			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB	p.E198	ENST00000412232.2	37	c.594	CCDS6097.2	8																																																																																			BRF2	-	superfamily_Cyclin-like	ENSG00000104221		0.498	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF2	HGNC	protein_coding	OTTHUMT00000343331.2	-	0	29	0	C			37702674	-1	tier1	-	no_errors	ENST00000220659	ensembl	human	known	74_37	silent	17.91	110	24	SNP	1.000	T	T	37702674	C	T	37702674	1	4	110	0	1	0	0	0	0	0	0	0	1515	912	32	3		3	BRF2	8	37702674	IGR	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	8721131	37702674	108661348	117	29920											
ADAM18	8749	genome.wustl.edu	37	chr8	39502989	39502989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcatcatgaatcatgaaGcagtgtaagatgttttctta	13	14	8	6	0	3	3	2	2	1	1	3	3	3	3	0	0	2	4	0	0	4	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:39502989G>C	ENST00000265707.5	+	11	1087	c.1042G>C	c.(1042-1044)Gca>Cca	p.A348P	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.A324P	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	348	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAATCATGAAGCAGTGTAAGA	0.313																																																	0													96	86	89					8																	39502989		2203	4300	6503	SO:0001583	missense	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"ADAM metallopeptidase domain containing"	196	protein-coding gene	gene with protein product			"a disintegrin and metalloproteinase domain 18"			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1042G>C	8.37:g.39502989G>C	ENSP00000265707:p.Ala348Pro		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.A348P	ENST00000265707.5	37	c.1042	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673176	0.47781	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.09723	2.95;2.95	5.18	4.29	0.51040	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.40554	N	0.001062	T	0.35480	0.0933	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.20706	-1.0267	10	0.56958	D	0.05	.	10.7594	0.46256	0.0:0.0:0.8105:0.1894	.	324;348	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	P	348;324;280	ENSP00000265707:A348P;ENSP00000369195:A324P	ENSP00000265707:A348P	A	+	1	0	ADAM18	39622146	0.992000	0.36948	0.902000	0.35471	0.383000	0.30230	1.607000	0.36836	1.365000	0.46057	0.585000	0.79938	GCA	ADAM18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168619		0.313	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0	31	0	G	NM_014237		39502989	1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	missense	22.83	71	21	SNP	0.986	C	C	39502989	G	C	39502989	3	2	110	1	0	0	0	0	1	0	0	0	239	971	34	5	1084	5	ADAM18	8	39502989	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1800315	39502989	106861033	118	29921											
XKR4	114786	genome.wustl.edu	37	chr8	56436366	56436366	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgctgatgtattatgcCttctttcatcccaatggacc	8	17	6	10	0	2	1	1	1	1	0	3	2	3	2	3	1	2	2	3	1	4	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:56436366C>G	ENST00000327381.6	+	3	1633	c.1533C>G	c.(1531-1533)gcC>gcG	p.A511A	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	511						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTATTATGCCTTCTTTCATC	0.522																																																	0													101	87	92					8																	56436366		2203	4300	6503	SO:0001819	synonymous_variant	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 4"				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1533C>G	8.37:g.56436366C>G			Q96PZ8	Silent	SNP	pfam_Transport_prot_XK	p.A511	ENST00000327381.6	37	c.1533	CCDS34893.1	8																																																																																			XKR4	-	pfam_Transport_prot_XK	ENSG00000206579		0.522	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0	26	0	C	NM_052898		56436366	1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	silent	48.57	18	17	SNP	1.000	G	G	56436366	C	G	56436366	2	3	110	1	0	0	0	0	0	0	0	1	17482	668	24	5		5	XKR4	8	56436366	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	16933377	56436366	89927656	119	29922											
CHMP4C	92421	genome.wustl.edu	37	chr8	82670388	82670388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcaggatgagttgatGgcagaacttgaagaattgga	12	12	14	3	0	1	5	1	3	0	2	1	7	1	7	0	3	1	3	0	3	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:82670388G>T	ENST00000297265.4	+	4	688	c.495G>T	c.(493-495)atG>atT	p.M165I		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	165	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ATGAGTTGATGGCAGAACTTG	0.408																																																	0													103	104	103					8																	82670388		2203	4300	6503	SO:0001583	missense	0			AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"Charged multivesicular body proteins"	30599	protein-coding gene	gene with protein product	"Snf7 homologue associated with Alix 3"	610899	"chromatin modifying protein 4C"			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.495G>T	8.37:g.82670388G>T	ENSP00000297265:p.Met165Ile		B2RBZ1	Missense_Mutation	SNP	pfam_Snf7	p.M165I	ENST00000297265.4	37	c.495	CCDS6233.1	8	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753443	0.69648	.	.	ENSG00000164695	ENST00000297265	T	0.72505	-0.66	6.17	6.17	0.99709	.	0.164355	0.64402	D	0.000002	T	0.81384	0.4811	M	0.85542	2.76	0.80722	D	1	B	0.27229	0.172	B	0.39119	0.291	T	0.78280	-0.2265	10	0.54805	T	0.06	-11.9174	20.8794	0.99867	0.0:0.0:1.0:0.0	.	165	Q96CF2	CHM4C_HUMAN	I	165	ENSP00000297265:M165I	ENSP00000297265:M165I	M	+	3	0	CHMP4C	82832943	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.447000	0.73465	2.941000	0.99782	0.655000	0.94253	ATG	CHMP4C	-	pfam_Snf7	ENSG00000164695		0.408	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP4C	HGNC	protein_coding	OTTHUMT00000379927.1	-	0	14	0	G	NM_152284		82670388	1	tier1	-	no_errors	ENST00000297265	ensembl	human	known	74_37	missense	52.94	8	9	SNP	1.000	T	T	82670388	G	T	82670388	3	4	110	1	0	0	0	0	1	0	0	0	3365	1348	47	3	509	3	CHMP4C	8	82670388	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	26234022	82670388	63693634	120	29923											
RALYL	138046	genome.wustl.edu	37	chr8	85774568	85774568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtgcctccacctcccCgtgcagtaattccgctgaag	6	9	11	15	3	0	1	0	1	0	0	3	1	3	1	6	1	2	3	6	1	2	2	rs527942610		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:85774568C>T	ENST00000521268.1	+	6	1556	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	RALYL_ENST00000522455.1_Missense_Mutation_p.R151C|RALYL_ENST00000521376.1_Missense_Mutation_p.R62C|RALYL_ENST00000518566.1_Missense_Mutation_p.R140C|RALYL_ENST00000521695.1_Missense_Mutation_p.R151C|RALYL_ENST00000523850.1_Missense_Mutation_p.R78C|RALYL_ENST00000517638.1_Missense_Mutation_p.R164C	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R151G(4)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TCCACCTCCCCGTGCAGTAAT	0.502													C|||	1	0.000199681	0	0	5008	,	,		15921	0		0.001	False		,,,				2504	0																4	Substitution - Missense(4)	lung(4)											56	56	56					8																	85774568		1909	4128	6037	SO:0001583	missense	0				CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"RNA binding motif (RRM) containing"	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.451C>T	8.37:g.85774568C>T	ENSP00000430367:p.Arg151Cys		B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.R151C	ENST00000521268.1	37	c.451	CCDS55253.1	8	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810460	0.70797	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.23754	2.59;2.59;2.59;2.53;2.58;2.13;1.89	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	M	0.75264	2.295	0.54753	D	0.999986	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.899;0.997;0.998;0.997;0.997	T	0.55692	-0.8101	10	0.59425	D	0.04	-3.6618	19.1979	0.93696	0.0:1.0:0.0:0.0	.	140;151;78;164;151	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	C	151;151;151;140;164;78;62	ENSP00000430394:R151C;ENSP00000428667:R151C;ENSP00000430367:R151C;ENSP00000430065:R140C;ENSP00000430128:R164C;ENSP00000428807:R78C;ENSP00000428310:R62C	ENSP00000430128:R164C	R	+	1	0	RALYL	85937123	0.997000	0.39634	0.670000	0.29842	0.457000	0.32468	4.017000	0.57167	2.599000	0.87857	0.551000	0.68910	CGT	RALYL	-	pirsf_hnRNP_C_Raly	ENSG00000184672		0.502	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALYL	HGNC	protein_coding	OTTHUMT00000379448.1	-	0	51	0	C			85774568	1	tier1	-	no_errors	ENST00000521268	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.997	T	T	85774568	C	T	85774568	3	4	110	1	0	0	0	0	1	0	0	0	13065	652	23	1	512	1	RALYL	8	85774568	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	3104180	85774568	60589454	121	29924											
CSMD3	114788	genome.wustl.edu	37	chr8	113569036	113569036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcccttctctcccctGtcatgcacttgagaaggcta	7	11	7	16	0	2	1	1	1	1	1	4	2	3	1	4	1	2	2	4	1	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:113569036G>A	ENST00000297405.5	-	25	4434	c.4190C>T	c.(4189-4191)aCa>aTa	p.T1397I	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1293I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1397I|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1357I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1397	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTCTCCCCTGTCATGCACTT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													111	100	104					8																	113569036		2203	4299	6502	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4190C>T	8.37:g.113569036G>A	ENSP00000297405:p.Thr1397Ile		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T1397I	ENST00000297405.5	37	c.4190	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159757	0.57368	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.11	5.11	0.69529	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.67795	0.2931	L	0.31926	0.97	0.33230	D	0.555766	D;D;P	0.55605	0.966;0.972;0.57	P;P;B	0.60609	0.805;0.877;0.312	T	0.69128	-0.5227	10	0.25106	T	0.35	.	18.7287	0.91726	0.0:0.0:1.0:0.0	.	1293;1397;1357	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1357;1397;737;1293;1397	ENSP00000345799:T1357I;ENSP00000297405:T1397I;ENSP00000341558:T737I;ENSP00000412263:T1293I;ENSP00000343124:T1397I	ENSP00000297405:T1397I	T	-	2	0	CSMD3	113638212	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.508000	0.60441	2.660000	0.90430	0.655000	0.94253	ACA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0	46	0	G	NM_052900		113569036	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	46.15	35	30	SNP	1.000	A	A	113569036	G	A	113569036	3	1	110	1	0	0	0	0	1	0	0	0	3955	1377	48	3	7121	3	CSMD3	8	113569036	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	27794468	113569036	32794986	122	29925											
ARC	23237	genome.wustl.edu	37	chr8	143695284	143695284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggtagaacacctcgcGccacacgtgcatctcgcgct	8	6	11	16	6	1	1	0	0	1	1	3	1	1	1	2	2	2	3	2	2	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:143695284G>T	ENST00000356613.2	-	1	1549	c.349C>A	c.(349-351)Cgc>Agc	p.R117S	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				AACACCTCGCGCCACACGTGC	0.682																																																	0													27	22	24					8																	143695284		2200	4300	6500	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.349C>A	8.37:g.143695284G>T	ENSP00000349022:p.Arg117Ser		B4DFL0|O60937	Missense_Mutation	SNP	prints_Activity-reg_cytoskelet-assoc	p.R117S	ENST00000356613.2	37	c.349	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408492	0.42715	.	.	ENSG00000198576	ENST00000356613	T	0.35236	1.32	4.46	-1.71	0.08133	.	0.104977	0.36444	U	0.002591	T	0.18718	0.0449	N	0.24115	0.695	0.21290	N	0.999734	P	0.41748	0.761	B	0.35240	0.198	T	0.18335	-1.0340	10	0.87932	D	0	-12.2885	9.0194	0.36191	0.0875:0.0:0.1984:0.7141	.	117	Q7LC44	ARC_HUMAN	S	117	ENSP00000349022:R117S	ENSP00000349022:R117S	R	-	1	0	ARC	143692286	0.009000	0.17119	0.256000	0.24389	0.958000	0.62258	-0.278000	0.08490	-0.351000	0.08249	-0.251000	0.11542	CGC	ARC	-	prints_Activity-reg_cytoskelet-assoc	ENSG00000198576		0.682	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	-	0	15	0	G			143695284	-1	tier1	-	no_errors	ENST00000356613	ensembl	human	known	74_37	missense	38.46	8	5	SNP	0.118	T	T	143695284	G	T	143695284	3	4	110	1	0	0	0	0	1	0	0	0	841	1087	38	2	845	2	ARC	8	143695284	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	30126248	143695284	2668738	123	29926											
PYCRL	65263	genome.wustl.edu	37	chr8	144688255	144688255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctgggcagcgatgcGgtgggccaggctgctgggca	5	6	20	10	2	1	0	0	0	1	0	1	1	1	0	1	6	3	4	1	6	0	0	rs375718982		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:144688255G>A	ENST00000220966.6	-	5	684	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Missense_Mutation_p.R70C|RP11-661A12.14_ENST00000606452.1_lincRNA	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	207					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	GCAGCGATGCGGTGGGCCAGG	0.662																																																	0								G	CYS/ARG	0,4400		0,0,2200	24	22	23		655	5.4	1	8		23	1,8591		0,1,4295	no	missense	PYCRL	NM_023078.3	180	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	219/287	144688255	1,12991	2200	4296	6496	SO:0001583	missense	0			AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.655C>T	8.37:g.144688255G>A	ENSP00000220966:p.Arg219Cys		B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Missense_Mutation	SNP	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	p.R219C	ENST00000220966.6	37	c.655	CCDS6407.2	8	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213593	0.79352	0.0	1.16E-4	ENSG00000104524	ENST00000220966;ENST00000377579;ENST00000433751	D;D;D	0.85088	-1.94;-1.94;-1.94	5.42	5.42	0.78866	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.184155	0.48767	D	0.000170	D	0.91945	0.7449	M	0.93197	3.39	0.49582	D	0.999803	D;D	0.76494	0.999;0.997	P;P	0.53146	0.714;0.719	D	0.93684	0.7001	10	0.87932	D	0	-38.6651	13.6448	0.62275	0.0:0.0:0.8446:0.1554	.	219;207	D3DWK4;Q53H96	.;P5CR3_HUMAN	C	219;70;194	ENSP00000220966:R219C;ENSP00000366802:R70C;ENSP00000404493:R194C	ENSP00000220966:R219C	R	-	1	0	PYCRL	144759398	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	3.422000	0.52749	2.553000	0.86117	0.561000	0.74099	CGC	PYCRL	-	superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase	ENSG00000104524		0.662	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYCRL	HGNC	protein_coding	OTTHUMT00000347081.2	-	0	92	0	G	NM_023078		144688255	-1	tier1	-	no_errors	ENST00000220966	ensembl	human	known	74_37	missense	41.10	43	30	SNP	1.000	A	A	144688255	G	A	144688255	3	1	110	1	0	0	0	0	1	0	0	0	12902	1116	39	1	213	1	PYCRL	8	144688255	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	992971	144688255	1675767	124	29927											
EPPK1	83481	genome.wustl.edu	37	chr8	144947157	144947157	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagggagcagctggccccGggcgaggtccaccaggcccc	7	2	15	17	2	0	0	0	0	0	0	1	2	1	1	6	5	2	2	6	5	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr8:144947157G>T	ENST00000525985.1	-	2	336	c.265C>A	c.(265-267)Cgg>Agg	p.R89R				P58107	EPIPL_HUMAN	epiplakin 1	89						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTGGCCCCGGGCGAGGTCC	0.701																																																	0													10	13	12					8																	144947157		1893	4097	5990	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"epidermal autoantigen 450K"	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.265C>A	8.37:g.144947157G>T			Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.R89	ENST00000525985.1	37	c.265		8																																																																																			EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000227184		0.701	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	-	0	64	0	G	NM_031308		144947157	-1	tier1	-	no_errors	ENST00000525985	ensembl	human	known	74_37	silent	40.00	51	34	SNP	0.000	T	T	144947157	G	T	144947157	2	4	110	1	0	0	0	0	0	0	0	1	5206	1115	39	2		2	EPPK1	8	144947157	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	258902	144947157	1416865	125	29928											
CBWD1	55871	genome.wustl.edu	37	chr9	121496	121496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgatcttcttggaaacGtgttgtccactgcttttctg	7	17	8	9	1	3	1	0	1	3	0	4	2	4	2	1	1	3	2	1	1	2	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:121496G>A	ENST00000356521.4	-	15	1247	c.1159C>T	c.(1159-1161)Cgt>Tgt	p.R387C	CBWD1_ENST00000382447.4_Missense_Mutation_p.R368C|CBWD1_ENST00000377400.4_Missense_Mutation_p.R339C|CBWD1_ENST00000314367.10_Missense_Mutation_p.R351C|CBWD1_ENST00000475411.1_5'Flank	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	387				RFQ -> HFK (in Ref. 4; AAK14935). {ECO:0000305}.			ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCTTGGAAACGTGTTGTCCAC	0.328																																																	0													375	377	376					9																	121496		2203	4299	6502	SO:0001583	missense	0			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.1159C>T	9.37:g.121496G>A	ENSP00000348915:p.Arg387Cys		A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C	p.R387C	ENST00000356521.4	37	c.1159	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	11.72	1.721795	0.30503	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367	T;T;T;T	0.10099	3.08;3.08;3.08;2.91	3.08	3.08	0.35506	.	0.611324	0.14683	N	0.304622	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	P;P;P	0.52061	0.903;0.95;0.752	B;P;B	0.46758	0.398;0.526;0.224	T	0.21143	-1.0254	10	0.66056	D	0.02	-0.1117	9.837	0.40975	0.0:0.0:1.0:0.0	.	368;351;387	Q9BRT8-3;Q9BRT8-2;Q9BRT8	.;.;CBWD1_HUMAN	C	387;339;368;351	ENSP00000348915:R387C;ENSP00000366617:R339C;ENSP00000371885:R368C;ENSP00000323433:R351C	ENSP00000323433:R351C	R	-	1	0	CBWD1	111496	0.002000	0.14202	0.038000	0.18304	0.015000	0.08874	0.286000	0.18902	1.732000	0.51606	0.479000	0.44913	CGT	CBWD1	-	NULL	ENSG00000172785		0.328	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	-	0	495	0	G	NM_018491		121496	-1	tier1	-	no_errors	ENST00000356521	ensembl	human	known	74_37	missense	46.75	205	180	SNP	0.388	A	A	121496	G	A	121496	3	1	110	1	0	0	0	0	1	0	0	0	2719	1145	40	1	32	1	CBWD1	9	121496	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09		121496	141091935	126	29929											
UNC13B	10497	genome.wustl.edu	37	chr9	35398978	35398978	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagacgccagggcctcagcGgctcaggatgcagatagcgt	9	5	14	13	3	2	2	2	0	0	2	2	3	2	3	3	3	3	2	3	3	1	1	rs573780841		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:35398978G>T	ENST00000378495.3	+	32	3996	c.3774G>T	c.(3772-3774)gcG>gcT	p.A1258A	UNC13B_ENST00000396787.1_Silent_p.A1270A|UNC13B_ENST00000378496.4_Silent_p.A1258A|UNC13B_ENST00000481299.1_3'UTR	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1258					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGGCCTCAGCGGCTCAGGATG	0.562																																																	0													77	78	78					9																	35398978		2203	4300	6503	SO:0001819	synonymous_variant	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"unc-13-like (C. elegans)"	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3774G>T	9.37:g.35398978G>T			Q5VYM8	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.A1258	ENST00000378495.3	37	c.3774	CCDS6579.1	9																																																																																			UNC13B	-	NULL	ENSG00000198722		0.562	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	-	0	48	0	G	NM_006377		35398978	1	tier1	-	no_errors	ENST00000378496	ensembl	human	known	74_37	silent	80.95	4	17	SNP	1.000	T	T	35398978	G	T	35398978	2	4	110	1	0	0	0	0	0	0	0	1	17034	1103	39	2		2	UNC13B	9	35398978	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	35277482	35398978	105814453	127	29930											
PCSK5	5125	genome.wustl.edu	37	chr9	78547359	78547359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gattaaaaggtcagttatctCgagcagagggacccacagtt	13	9	11	8	1	2	1	1	0	1	1	3	4	2	2	1	2	1	3	1	2	3	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:78547359C>G	ENST00000545128.1	+	2	795	c.257C>G	c.(256-258)tCg>tGg	p.S86W	PCSK5_ENST00000376767.3_Missense_Mutation_p.S86W|PCSK5_ENST00000376752.4_Missense_Mutation_p.S86W	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	86					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.S86*(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGTTATCTCGAGCAGAGGG	0.453																																																	3	Substitution - Nonsense(3)	lung(3)											95	87	90					9																	78547359		2203	4300	6503	SO:0001583	missense	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.257C>G	9.37:g.78547359C>G	ENSP00000446280:p.Ser86Trp		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.S86W	ENST00000545128.1	37	c.257	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	c	17.99	3.523461	0.64747	.	.	ENSG00000099139	ENST00000545128;ENST00000376767;ENST00000396108;ENST00000376752	T;T;T	0.50001	0.76;0.76;0.76	5.89	5.89	0.94794	.	.	.	.	.	T	0.71804	0.3383	M	0.81341	2.54	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.67725	0.953;0.899	T	0.73811	-0.3865	9	0.72032	D	0.01	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	86;86	Q92824-2;B1AMG5	.;.	W	86	ENSP00000446280:S86W;ENSP00000365958:S86W;ENSP00000365943:S86W	ENSP00000365943:S86W	S	+	2	0	PCSK5	77737179	1.000000	0.71417	0.967000	0.41034	0.604000	0.37047	5.740000	0.68629	2.793000	0.96121	0.561000	0.74099	TCG	PCSK5	-	superfamily_Prot_inh_propept	ENSG00000099139		0.453	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		-	0	50	0	C			78547359	1	tier1	-	no_errors	ENST00000545128	ensembl	human	known	74_37	missense	87.18	5	34	SNP	0.999	G	G	78547359	C	G	78547359	3	3	110	1	0	0	0	0	1	0	0	0	11642	893	31	5	263	5	PCSK5	9	78547359	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	43148381	78547359	62666072	128	29931											
DAPK1	1612	genome.wustl.edu	37	chr9	90296515	90296515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactccagcaggttcccacCttcacccctggcttctaagc	8	9	6	18	0	2	0	1	0	1	0	4	0	4	0	5	2	3	3	5	2	2	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:90296515C>A	ENST00000408954.3	+	20	2533	c.2198C>A	c.(2197-2199)cCt>cAt	p.P733H	DAPK1_ENST00000358077.5_Missense_Mutation_p.P733H|DAPK1_ENST00000491893.1_Missense_Mutation_p.P733H|DAPK1_ENST00000472284.1_Missense_Mutation_p.P733H|DAPK1_ENST00000469640.2_Missense_Mutation_p.P733H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	733					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGGTTCCCACCTTCACCCCTG	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													35	37	36					9																	90296515		1923	4110	6033	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2198C>A	9.37:g.90296515C>A	ENSP00000386135:p.Pro733His		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.P733H	ENST00000408954.3	37	c.2198	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	C	11.89	1.773626	0.31411	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.15	5.17	5.17	0.71159	.	0.125129	0.34959	N	0.003544	T	0.66733	0.2819	N	0.22421	0.69	0.29301	N	0.868695	B;D;B	0.54601	0.38;0.967;0.38	B;P;B	0.53593	0.259;0.73;0.259	T	0.66368	-0.5941	10	0.62326	D	0.03	.	18.529	0.90984	0.0:1.0:0.0:0.0	.	733;287;733	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	H	733	ENSP00000350785:P733H;ENSP00000417076:P733H;ENSP00000418885:P733H;ENSP00000386135:P733H;ENSP00000419026:P733H	ENSP00000350785:P733H	P	+	2	0	DAPK1	89486335	0.959000	0.32827	0.071000	0.20095	0.217000	0.24651	3.918000	0.56432	2.712000	0.92718	0.556000	0.70494	CCT	DAPK1	-	superfamily_P-loop_NTPase	ENSG00000196730		0.567	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	-	0	46	0	C	NM_004938		90296515	1	tier1	-	no_errors	ENST00000469640	ensembl	human	known	74_37	missense	57.14	9	12	SNP	0.521	A	A	90296515	C	A	90296515	3	1	110	1	0	0	0	0	1	0	0	0	4244	681	24	3	2272	3	DAPK1	9	90296515	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	11749156	90296515	50916916	129	29932											
DAPK1	1612	genome.wustl.edu	37	chr9	90321949	90321949	+	Frame_Shift_Del	DEL	C	C	-																															cgcctgctggacccgcccgaCcccctggggaaggactggtg																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:90321949delC	ENST00000408954.3	+	26	4298	c.3963delC	c.(3961-3963)gacfs	p.D1321fs	DAPK1_ENST00000358077.5_Frame_Shift_Del_p.D1321fs|DAPK1_ENST00000491893.1_Frame_Shift_Del_p.D1255fs|DAPK1_ENST00000472284.1_Frame_Shift_Del_p.D1321fs|DAPK1_ENST00000469640.2_Frame_Shift_Del_p.D1346fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1321	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACCCGCCCGACCCCCTGGGGA	0.602									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0													59	67	64					9																	90321949		2032	4170	6202	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"Ankyrin repeat domain containing"	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3963delC	9.37:g.90321949delC	ENSP00000386135:p.Asp1321fs		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.L1348fs	ENST00000408954.3	37	c.4038	CCDS43842.1	9																																																																																			DAPK1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain	ENSG00000196730		0.602	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0	46	0	C	NM_004938		90321949	1	tier1		no_errors	ENST00000469640	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.981	-	-	90321949	C	-	90321949	7	5	110	1	0	1	0	1	0	0	0	0	4244	506	18	0	4061	0	DAPK1	9	90321949	Frame_Shift_Del	DEL	C	TCGA-LN-A49Y-01A-11D-A27G-09	25434	90321949	50891482	130	29933											
NINJ1	4814	genome.wustl.edu	37	chr9	95888702	95888702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggacctaccaaggaagatGagcagcacccccacgccgat	12	3	12	14	2	0	2	0	1	0	1	0	5	0	4	5	3	3	2	5	3	3	1	rs140825165	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:95888702G>A	ENST00000375446.4	-	2	364	c.294C>T	c.(292-294)ctC>ctT	p.L98L	NINJ1_ENST00000489274.1_5'Flank	NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	98					cell adhesion (GO:0007155)|hyaloid vascular plexus regression (GO:1990384)|nervous system development (GO:0007399)|positive regulation of cell-matrix adhesion (GO:0001954)|tissue regeneration (GO:0042246)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CAAGGAAGATGAGCAGCACCC	0.647													.|||	7	0.00139776	0	0	5008	,	,		14732	0		0	False		,,,				2504	0.0072																0													73	69	70					9																	95888702		2202	4300	6502	SO:0001819	synonymous_variant	0			U91512	CCDS6703.1	9q22	2008-07-21			ENSG00000131669	ENSG00000131669			7824	protein-coding gene	gene with protein product	"nerve injury-induced protein-1"	602062				8780658	Standard	NM_004148		Approved	NIN1	uc004atg.4	Q92982	OTTHUMG00000020242	ENST00000375446.4:c.294C>T	9.37:g.95888702G>A			Q6GU89|Q8WUV5|Q9BT07	Silent	SNP	pfam_Ninjurin	p.L98	ENST00000375446.4	37	c.294	CCDS6703.1	9																																																																																			NINJ1	-	pfam_Ninjurin	ENSG00000131669		0.647	NINJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ1	HGNC	protein_coding	OTTHUMT00000053123.2	-	0	26	0	G	NM_004148		95888702	-1	tier1	-	no_errors	ENST00000375446	ensembl	human	known	74_37	silent	92.86	1	13	SNP	1.000	A	A	95888702	G	A	95888702	2	1	110	1	0	0	0	0	0	0	0	1	10457	1277	45	3		3	NINJ1	9	95888702	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	5566753	95888702	45324729	131	29934											
PHF2	5253	genome.wustl.edu	37	chr9	96438978	96438979	+	Frame_Shift_Ins	INS	-	-	G																															ctctgccggcaccacctccaINScctccaccacgccagcctct																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:96438978_96438979insG	ENST00000359246.4	+	21	3302_3303	c.2935_2936insG	c.(2935-2937)accfs	p.T979fs	PHF2_ENST00000375376.4_Frame_Shift_Ins_p.T210fs	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	979	Ser/Thr-rich.			ST -> PA (in Ref. 1; AAD21791). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		caccacctccacctccaccacg	0.649																																																	0																																										SO:0001589	frameshift_variant	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"Chromatin-modifying enzymes / K-demethylases", "Zinc fingers, PHD-type"	8920	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1E", "centromere protein 35"	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	Exception_encountered	9.37:g.96438978_96438979insG	ENSP00000352185:p.Thr979fs		Q4VXG0|Q8N3K2|Q9Y6N4	Frame_Shift_Ins	INS	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.T979fs	ENST00000359246.4	37	c.2935_2936	CCDS35069.1	9																																																																																			PHF2	-	NULL	ENSG00000197724		0.649	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0	45	0	-	NM_005392		96438979	1	tier1		no_errors	ENST00000359246	ensembl	human	known	74_37	frame_shift_ins	14.29	18	3	INS	0.993:1.000	G	G	96438979	-	G	96438978	7	5	110	1	0	1	1	0	0	0	0	0	11869	159	6	0	3017	0	PHF2	9	96438978	Frame_Shift_Ins	INS	-	TCGA-LN-A49Y-01A-11D-A27G-09	550276	96438978	44774453	132	29935											
AKAP2	11217	genome.wustl.edu	37	chr9	112898644	112898644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcctccttactgatcaccacGaatccctggataatgatgtt	10	12	7	12	1	1	2	1	2	0	0	3	4	3	3	4	1	1	1	4	1	3	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:112898644G>C	ENST00000259318.7	+	2	334	c.127G>C	c.(127-129)Gaa>Caa	p.E43Q	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E274Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E274Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E132Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.E274Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.E132Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.E274Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	43										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TGATCACCACGAATCCCTGGA	0.498																																																	0													179	155	163					9																	112898644		2203	4300	6503	SO:0001583	missense	0			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"A-kinase anchor proteins"	372	protein-coding gene	gene with protein product	"protein kinase A2"	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.127G>C	9.37:g.112898644G>C	ENSP00000259318:p.Glu43Gln		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.E274Q	ENST00000259318.7	37	c.820	CCDS48003.1	9	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880272	0.91740	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.57436	1.72;1.73;1.72;1.73;1.0;0.42;0.4;1.04	6.17	6.17	0.99709	.	0.064065	0.64402	D	0.000011	T	0.74061	0.3667	M	0.70275	2.135	0.58432	D	0.999993	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.985;0.999;0.992;0.999;0.997;0.999;0.999;0.998	T	0.74061	-0.3786	10	0.87932	D	0	-31.4694	19.8676	0.96824	0.0:0.0:1.0:0.0	.	43;132;126;132;133;274;274;92	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	274;274;274;274;132;132;92;43	ENSP00000363654:E274Q;ENSP00000305861:E274Q;ENSP00000451476:E274Q;ENSP00000421522:E274Q;ENSP00000404782:E132Q;ENSP00000363649:E132Q;ENSP00000419268:E92Q;ENSP00000259318:E43Q	ENSP00000259318:E43Q	E	+	1	0	PALM2-AKAP2;AKAP2	111938465	1.000000	0.71417	0.404000	0.26397	0.902000	0.53008	6.097000	0.71452	2.941000	0.99782	0.655000	0.94253	GAA	PALM2-AKAP2	-	NULL	ENSG00000157654		0.498	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000346067.3	-	0	40	0	G	NM_001004065		112898644	1	tier1	-	no_errors	ENST00000374530	ensembl	human	known	74_37	missense	85.71	4	24	SNP	0.988	C	C	112898644	G	C	112898644	3	2	110	1	0	0	0	0	1	0	0	0	451	1059	37	5	400	5	AKAP2	9	112898644	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	16459666	112898644	28314787	133	29936											
PAPPA	5069	genome.wustl.edu	37	chr9	118982241	118982241	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtacggactccttcacGcccaatcaagtcgccagaat	11	8	8	14	3	2	1	2	0	0	1	4	3	3	2	3	1	1	1	3	1	4	2	rs140997586		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:118982241G>T	ENST00000328252.3	+	5	2313	c.1944G>T	c.(1942-1944)acG>acT	p.T648T	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	648					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACTCCTTCACGCCCAATCAAG	0.592																																																	0													105	101	102					9																	118982241		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"insulin-like growth factor-dependent IGF binding protein-4 protease", "aspecific BCL2 ARE-binding protein 2", "differentially placenta 1 expressed protein"	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1944G>T	9.37:g.118982241G>T			B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.T648	ENST00000328252.3	37	c.1944	CCDS6813.1	9																																																																																			PAPPA	-	pfam_Peptidase_M43	ENSG00000182752		0.592	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	-	0	28	0	G	NM_002581		118982241	1	tier1	-	no_errors	ENST00000328252	ensembl	human	known	74_37	silent	83.33	3	15	SNP	0.995	T	T	118982241	G	T	118982241	2	4	110	1	0	0	0	0	0	0	0	1	11471	1074	38	2		2	PAPPA	9	118982241	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	6083597	118982241	22231190	134	29937											
OBP2A	29991	genome.wustl.edu	37	chr9	138439805	138439805	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcgccgtgggggcctGcgctacatgggaaagcttgt	7	7	16	11	3	0	0	0	0	0	0	0	2	0	1	3	3	4	2	3	3	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr9:138439805G>C	ENST00000539850.1	+	4	392	c.366G>C	c.(364-366)ctG>ctC	p.L122L	OBP2A_ENST00000340780.3_Silent_p.L122L|OBP2A_ENST00000342114.4_Missense_Mutation_p.A78P|OBP2A_ENST00000371776.1_Silent_p.L122L			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	122					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GTGGGGGCCTGCGCTACATGG	0.612																																																	0													43	39	41					9																	138439805		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"Lipocalins"	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.366G>C	9.37:g.138439805G>C			Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	superfamily_Calycin-like	p.A78P	ENST00000539850.1	37	c.232	CCDS6992.1	9	.	.	.	.	.	.	.	.	.	.	g	7.919	0.738083	0.15574	.	.	ENSG00000122136	ENST00000342114	T	0.09723	2.95	2.25	-1.05	0.10036	.	.	.	.	.	T	0.05914	0.0154	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39057	-0.9632	8	0.37606	T	0.19	2.0E-4	2.8242	0.05480	0.3257:0.2474:0.4269:0.0	.	78	Q5T8A4	.	P	78	ENSP00000340950:A78P	ENSP00000340950:A78P	A	+	1	0	OBP2A	137579626	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.155000	0.03163	-0.249000	0.09569	-0.401000	0.06369	GCG	OBP2A	-	NULL	ENSG00000122136		0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	OBP2A	HGNC	protein_coding	OTTHUMT00000397904.1	-	0	15	0	G	NM_014582		138439805	1	tier1	-	no_errors	ENST00000342114	ensembl	human	known	74_37	missense	83.33	2	10	SNP	0.000	C	C	138439805	G	C	138439805	2	2	110	1	0	0	0	0	0	0	0	1	10849	1306	46	5		5	OBP2A	9	138439805	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	19457564	138439805	2773626	135	29938											
TUBB8	347688	genome.wustl.edu	37	chr10	93704	93704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagggtcttggaacataTgtcatacagagcttcgttat	10	16	9	6	1	2	1	1	0	1	1	3	2	2	2	0	2	3	2	0	2	5	7			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:93704T>C	ENST00000309812.4	-	4	690	c.628A>G	c.(628-630)Ata>Gta	p.I210V	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.I138V|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	210					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TTGGAACATATGTCATACAGA	0.542																																					Pancreas(192;2041 3010 9013 18103)												0													80	75	76					10																	93704		2203	4300	6503	SO:0001583	missense	0			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"Tubulins"	20773	protein-coding gene	gene with protein product	"class VIII beta-tubulin"						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.628A>G	10.37:g.93704T>C	ENSP00000311042:p.Ile210Val		Q5SQX9|Q8WZ78	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.I210V	ENST00000309812.4	37	c.628	CCDS7051.1	10	.	.	.	.	.	.	.	.	.	.	T	9.561	1.118463	0.20877	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	T	0.71222	-0.55	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000008	D	0.82788	0.5113	M	0.91510	3.215	0.29757	N	0.83584	B;D	0.71674	0.001;0.998	B;D	0.97110	0.002;1.0	T	0.75448	-0.3314	9	0.87932	D	0	.	4.5487	0.12098	0.0:6.0E-4:0.0:0.9994	.	173;210	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	V	138;176;173;210	ENSP00000403895:I138V	ENSP00000272035:I176V	I	-	1	0	RP11-631M21.2	83704	1.000000	0.71417	0.102000	0.21198	0.103000	0.19146	5.418000	0.66429	0.103000	0.17682	0.102000	0.15555	ATA	TUBB8	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin	ENSG00000173876		0.542	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB8	HGNC	protein_coding	OTTHUMT00000467795.1	-	0	102	0	T	NM_177987		93704	-1	tier1	-	no_errors	ENST00000309812	ensembl	human	known	74_37	missense	49.53	54	53	SNP	1.000	C	C	93704	T	C	93704	3	2	110	1	0	0	0	0	1	0	0	0	16810	1464	51	4	710	4	TUBB8	10	93704	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09		93704	135441043	136	29939											
MKX	283078	genome.wustl.edu	37	chr10	28023695	28023695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagcccccttcgttcatGtgggttcttggaggattttc	5	17	10	9	1	2	0	1	0	1	0	4	2	2	2	2	3	1	2	2	3	2	8			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:28023695G>C	ENST00000375790.5	-	5	960	c.528C>G	c.(526-528)caC>caG	p.H176Q	MKX_ENST00000419761.1_Missense_Mutation_p.H176Q			Q8IYA7	MKX_HUMAN	mohawk homeobox	176					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTCGTTCATGTGGGTTCTTG	0.473																																																	0													111	111	111					10																	28023695		2203	4300	6503	SO:0001583	missense	0			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.528C>G	10.37:g.28023695G>C	ENSP00000364946:p.His176Gln		B3KWM5	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.H176Q	ENST00000375790.5	37	c.528	CCDS7156.1	10	.	.	.	.	.	.	.	.	.	.	G	9.011	0.982412	0.18889	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	T;T	0.62788	0.0;0.0	5.71	4.81	0.61882	.	0.206886	0.52532	D	0.000072	T	0.45236	0.1332	L	0.33485	1.01	0.31208	N	0.698948	B	0.09022	0.002	B	0.06405	0.002	T	0.42155	-0.9468	10	0.08599	T	0.76	-25.5113	9.4284	0.38595	0.2025:0.0:0.7975:0.0	.	176	Q8IYA7	MKX_HUMAN	Q	176	ENSP00000364946:H176Q;ENSP00000400896:H176Q	ENSP00000364946:H176Q	H	-	3	2	MKX	28063701	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.482000	0.35486	1.431000	0.47355	0.558000	0.71614	CAC	MKX	-	NULL	ENSG00000150051		0.473	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKX	HGNC	protein_coding	OTTHUMT00000047332.3	-	0	56	0	G	NM_173576		28023695	-1	tier1	-	no_errors	ENST00000375790	ensembl	human	known	74_37	missense	43.14	29	22	SNP	1.000	C	C	28023695	G	C	28023695	3	2	110	1	0	0	0	0	1	0	0	0	9648	1368	48	5	542	5	MKX	10	28023695	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	27929991	28023695	107511052	137	29940											
PCDH15	65217	genome.wustl.edu	37	chr10	56106232	56106232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgaatattgtggtacCaactggagtgagctgaaagg	11	11	13	6	0	0	3	0	3	0	0	1	4	1	4	2	3	3	2	2	3	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:56106232C>A	ENST00000320301.6	-	6	881	c.487G>T	c.(487-489)Ggt>Tgt	p.G163C	PCDH15_ENST00000414778.1_Missense_Mutation_p.G168C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G163C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G163C|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000395442.1_Missense_Mutation_p.G163C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G163C|PCDH15_ENST00000373965.2_Missense_Mutation_p.G163C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G163C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G163C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G163C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G163C|PCDH15_ENST00000395446.1_Missense_Mutation_p.G163C|PCDH15_ENST00000395440.1_Missense_Mutation_p.G163C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G141C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G141C|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	163	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTGTGGTACCAACTGGAGTG	0.333										HNSCC(58;0.16)																																							0													147	150	149					10																	56106232		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.487G>T	10.37:g.56106232C>A	ENSP00000322604:p.Gly163Cys		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G163C	ENST00000320301.6	37	c.487	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411639	0.83340	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.76;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.35	5.35	0.76521	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.72095	0.3418	H	0.98218	4.175	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.83671	0.0166	9	0.87932	D	0	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	141;163;163;168;163;163;163;163;163;163;163;168;163;141;163	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	163;168;163;163;163;163;163;163;163;163;141;141;163;163;168;163;163	ENSP00000363076:G163C;ENSP00000410304:G168C;ENSP00000378826:G163C;ENSP00000378832:G163C;ENSP00000378833:G163C;ENSP00000378829:G163C;ENSP00000378827:G163C;ENSP00000378820:G163C;ENSP00000354950:G163C;ENSP00000378821:G141C;ENSP00000363068:G141C;ENSP00000322604:G163C;ENSP00000378818:G163C;ENSP00000412628:G163C;ENSP00000363066:G163C	ENSP00000322604:G163C	G	-	1	0	PCDH15	55776238	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.137000	0.77295	2.514000	0.84764	0.650000	0.86243	GGT	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.333	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0	48	0	C	NM_033056		56106232	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	87.88	4	29	SNP	1.000	A	A	56106232	C	A	56106232	3	1	110	1	0	0	0	0	1	0	0	0	11550	594	21	3	7136	3	PCDH15	10	56106232	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	28082537	56106232	79428515	138	29941											
TFAM	7019	genome.wustl.edu	37	chr10	60148569	60148570	+	Frame_Shift_Ins	INS	-	-	A																															ttaaaaaggaaagctatgacINSaaaaaaaaaagtgagtatca																								rs544132101|rs140210748|rs78912196		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:60148569_60148570insA	ENST00000487519.1	+	4	957_958	c.431_432insA	c.(430-435)acaaaafs	p.TK144fs	TFAM_ENST00000373895.3_Frame_Shift_Ins_p.TK144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAAGCTATGACAAAAAAAAAAG	0.267																																																	0																																										SO:0001589	frameshift_variant	0			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.441dupA	10.37:g.60148579_60148579dupA	ENSP00000420588:p.Thr144fs		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E148fs	ENST00000487519.1	37	c.431_432	CCDS7253.1	10																																																																																			TFAM	-	superfamily_HMG_box_dom	ENSG00000108064		0.267	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAM	HGNC	protein_coding	OTTHUMT00000048146.1		0	31	0	-	NM_003201		60148570	1	tier1		no_errors	ENST00000487519	ensembl	human	known	74_37	frame_shift_ins	11.54	23	3	INS	0.006:0.006	A	A	60148570	-	A	60148569	7	5	110	1	0	1	1	0	0	0	0	0	15833	478	17	0	445	0	TFAM	10	60148569	Frame_Shift_Ins	INS	-	TCGA-LN-A49Y-01A-11D-A27G-09	4042337	60148569	75386178	139	29942											
DNMBP	23268	genome.wustl.edu	37	chr10	101716195	101716195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgcagtcaggctcctcggCctcatggtcactggtttcat	7	12	10	12	1	4	0	4	0	0	0	6	0	5	0	2	4	1	3	2	4	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:101716195C>A	ENST00000324109.4	-	4	1127	c.1036G>T	c.(1036-1038)Gcc>Tcc	p.A346S	DNMBP_ENST00000342239.3_Missense_Mutation_p.A346S|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	346					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCTCCTCGGCCTCATGGTCA	0.498																																																	0													123	122	122					10																	101716195		2203	4300	6503	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"Rho guanine nucleotide exchange factors"	30373	protein-coding gene	gene with protein product	"scaffold protein TUBA"	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1036G>T	10.37:g.101716195C>A	ENSP00000315659:p.Ala346Ser		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.A346S	ENST00000324109.4	37	c.1036	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	C	4.295	0.054034	0.08291	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.12361	2.74;2.69	5.82	1.25	0.21368	Src homology-3 domain (1);	0.733613	0.12162	N	0.493912	T	0.07458	0.0188	L	0.27053	0.805	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.42882	-0.9425	10	0.14252	T	0.57	-0.136	3.9954	0.09556	0.0:0.4788:0.1716:0.3496	.	346	Q6XZF7	DNMBP_HUMAN	S	346	ENSP00000344914:A346S;ENSP00000315659:A346S	ENSP00000315659:A346S	A	-	1	0	DNMBP	101706185	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.003000	0.13083	0.188000	0.20168	-0.377000	0.06932	GCC	DNMBP	-	superfamily_SH3_domain	ENSG00000107554		0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	-	0	23	0	C	NM_015221		101716195	-1	tier1	-	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	100.00	0	10	SNP	0.000	A	A	101716195	C	A	101716195	3	1	110	1	0	0	0	0	1	0	0	0	4688	739	26	3	3753	3	DNMBP	10	101716195	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	41567626	101716195	33818552	140	29943											
INPP5F	22876	genome.wustl.edu	37	chr10	121565957	121565957	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcgcaccaacgtggtcCaagctgccatcgcgagagtg	9	7	13	12	4	0	1	0	0	0	1	3	3	1	2	3	2	3	2	3	2	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:121565957C>T	ENST00000361976.2	+	12	1571	c.1405C>T	c.(1405-1407)Caa>Taa	p.Q469*		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	778	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CAACGTGGTCCAAGCTGCCAT	0.413																																																	0													100	97	98					10																	121565957		2203	4300	6503	SO:0001587	stop_gained	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1405C>T	10.37:g.121565957C>T	ENSP00000354519:p.Gln469*		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Nonsense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.Q469*	ENST00000361976.2	37	c.1405	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	C	40	8.025039	0.98616	.	.	ENSG00000198825	ENST00000361976	.	.	.	5.5	5.5	0.81552	.	0.123586	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.0005	19.425	0.94737	0.0:1.0:0.0:0.0	.	.	.	.	X	469	.	ENSP00000354519:Q469X	Q	+	1	0	INPP5F	121555947	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.678000	0.84035	2.584000	0.87258	0.563000	0.77884	CAA	INPP5F	-	pfscan_Syja_N	ENSG00000198825		0.413	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	-	0	47	0	C	NM_014937		121565957	1	tier1	-	no_errors	ENST00000361976	ensembl	human	known	74_37	nonsense	87.50	3	21	SNP	1.000	T	T	121565957	C	T	121565957	4	4	110	1	0	0	0	0	0	1	0	0	7785	595	21	3	1451	3	INPP5F	10	121565957	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	19849762	121565957	13968790	141	29944											
FANK1	92565	genome.wustl.edu	37	chr10	127686054	127686054	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaagtggcaaggacaGgtaggaggtgggatatgact	13	7	18	3	0	0	1	0	1	0	0	0	6	0	5	0	7	0	2	0	7	5	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:127686054G>T	ENST00000368693.1	+	6	643	c.539G>T	c.(538-540)aGt>aTt	p.S180I	FANK1_ENST00000368695.1_Splice_Site_p.S174I			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	180						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GGCAAGGACAGGTAGGAGGTG	0.423																																																	0													241	218	226					10																	127686054		2203	4300	6503	SO:0001630	splice_region_variant	0			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"Ankyrin repeat domain containing", "Fibronectin type III domain containing"	23527	protein-coding gene	gene with protein product		611640	"fibronectin type 3 and ankyrin repeat domains 1"			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.539+1G>T	10.37:g.127686054G>T			Q6UXY9|Q6X7T6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt	p.S180I	ENST00000368693.1	37	c.539	CCDS31309.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.026066|4.026066	0.75390|0.75390	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000368695;ENST00000368693;ENST00000368692|ENST00000456942	T;T|.	0.63580|.	-0.05;-0.05|.	5.23|5.23	5.23|5.23	0.72850|0.72850	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59390|0.59390	0.2190|0.2190	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.91635|.	0.997;0.996;0.999|.	T|T	0.54098|0.54098	-0.8344|-0.8344	10|5	0.62326|.	D|.	0.03|.	-28.4198|-28.4198	14.603|14.603	0.68456|0.68456	0.0:0.0:0.8537:0.1463|0.0:0.0:0.8537:0.1463	.|.	206;180;180|.	Q8TC84-3;Q8TC84-2;Q8TC84|.	.;.;FANK1_HUMAN|.	I|F	174;180;206|75	ENSP00000357684:S174I;ENSP00000357682:S180I|.	ENSP00000357681:S206I|.	S|V	+|+	2|1	0|0	FANK1|FANK1	127676044|127676044	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	6.168000|6.168000	0.71908|0.71908	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	AGT|GTC	FANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000203780		0.423	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FANK1	HGNC	protein_coding		-	0	57	0	G	NM_145235	Missense_Mutation	127686054	1	tier1	-	no_errors	ENST00000368693	ensembl	human	known	74_37	missense	87.80	5	36	SNP	1.000	T	T	127686054	G	T	127686054	5	4	110	1	0	0	0	0	0	0	1	0	5694	1014	35	3	561	3	FANK1	10	127686054	Splice_Site	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	6120097	127686054	7848693	142	29945											
KNDC1	85442	genome.wustl.edu	37	chr10	135015190	135015190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacagacggccagctggcGgggcctcagacgtggaggca	9	3	18	11	3	1	2	1	0	0	2	1	4	1	4	2	7	1	2	2	7	0	0	rs138733656		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr10:135015190G>T	ENST00000304613.3	+	17	3196	c.3175G>T	c.(3175-3177)Ggg>Tgg	p.G1059W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1061W|KNDC1_ENST00000368571.2_Missense_Mutation_p.G994W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1059					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCCAGCTGGCGGGGCCTCAGA	0.687																																																	0													26	32	30					10																	135015190		2202	4299	6501	SO:0001583	missense	0			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"RasGEF domain family, member 2"	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3175G>T	10.37:g.135015190G>T	ENSP00000304437:p.Gly1059Trp		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.G1061W	ENST00000304613.3	37	c.3181	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283255	0.40394	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11712	2.75;2.75;2.75	3.35	-0.811	0.10857	.	1.969230	0.02647	N	0.105940	T	0.25344	0.0616	L	0.54323	1.7	0.09310	N	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;P	0.74674	0.984;0.937;0.902	T	0.13124	-1.0521	10	0.87932	D	0	-3.586	3.8956	0.09138	0.4536:0.1832:0.3632:0.0	.	1059;994;1059	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	W	1059;1061;994	ENSP00000304437:G1059W;ENSP00000357561:G1061W;ENSP00000357560:G994W	ENSP00000304437:G1059W	G	+	1	0	KNDC1	134865180	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.014000	0.12656	-0.287000	0.09064	0.313000	0.20887	GGG	KNDC1	-	NULL	ENSG00000171798		0.687	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	-	0	20	0	G	NM_152643		135015190	1	tier1	-	no_errors	ENST00000368572	ensembl	human	known	74_37	missense	61.11	7	11	SNP	0.000	T	T	135015190	G	T	135015190	3	4	110	1	0	0	0	0	1	0	0	0	8453	1116	39	2	3241	2	KNDC1	10	135015190	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	7329136	135015190	519557	143	29946											
NUCB2	4925	genome.wustl.edu	37	chr11	17333611	17333611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctaaaaatgaagaggatGatatggtagaaatggaagaa	20	7	11	3	0	0	5	0	2	0	3	0	7	0	7	1	3	0	1	1	3	9	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:17333611G>T	ENST00000529010.1	+	10	1075	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	NUCB2_ENST00000458064.2_Missense_Mutation_p.D286Y|NUCB2_ENST00000323688.6_Missense_Mutation_p.D286Y	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	286	Asp/Glu-rich (acidic).|Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGAAGAGGATGATATGGTAGA	0.284																																																	0													128	125	126					11																	17333611		1799	4057	5856	SO:0001583	missense	0			AF052642	CCDS41623.1	11p15.1	2013-01-10						"EF-hand domain containing"	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.856G>T	11.37:g.17333611G>T	ENSP00000436455:p.Asp286Tyr		A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.D286Y	ENST00000529010.1	37	c.856	CCDS41623.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.393869|4.393869	0.83011|0.83011	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064|ENST00000527580	D;D;D|.	0.84589|.	-1.87;-1.87;-1.87|.	5.63|5.63	4.71|4.71	0.59529|0.59529	EF-hand-like domain (1);|.	0.044629|.	0.85682|.	N|.	0.000000|.	T|.	0.69620|.	0.3131|.	L|L	0.58354|0.58354	1.805|1.805	0.80722|0.80722	D|D	1|1	B;D|.	0.89917|.	0.157;1.0|.	B;D|.	0.81914|.	0.079;0.995|.	T|.	0.67440|.	-0.5670|.	10|.	0.87932|.	D|.	0|.	-12.1861|-12.1861	15.0058|15.0058	0.71510|0.71510	0.0694:0.0:0.9306:0.0|0.0694:0.0:0.9306:0.0	.|.	286;286|.	E7EV42;P80303|.	.;NUCB2_HUMAN|.	Y|L	286|93	ENSP00000320168:D286Y;ENSP00000436455:D286Y;ENSP00000408702:D286Y|.	ENSP00000320168:D286Y|.	D|X	+|+	1|2	0|2	NUCB2|NUCB2	17290187|17290187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.682000|2.682000	0.91365|0.91365	0.650000|0.650000	0.86243|0.86243	GAT|TGA	NUCB2	-	NULL	ENSG00000070081		0.284	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUCB2	HGNC	protein_coding	OTTHUMT00000387614.2	-	0	77	0	G	NM_005013		17333611	1	tier1	-	no_errors	ENST00000323688	ensembl	human	known	74_37	missense	90.35	11	103	SNP	1.000	T	T	17333611	G	T	17333611	3	4	110	1	0	0	0	0	1	0	0	0	10758	1290	45	3	886	3	NUCB2	11	17333611	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09		17333611	117672905	144	29947											
AMBRA1	55626	genome.wustl.edu	37	chr11	46430144	46430144	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcattctgcagctgaagggCcagagtctgggtgccctgag	7	8	16	10	0	2	3	0	2	2	1	2	3	2	3	2	3	3	3	2	3	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:46430144C>A	ENST00000458649.2	-	17	3740	c.3322G>T	c.(3322-3324)Gcc>Tcc	p.A1108S	AMBRA1_ENST00000528950.1_Missense_Mutation_p.A1079S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.A1048S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.A989S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.A1079S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.A1018S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.A1048S			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1108					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCTGAAGGGCCAGAGTCTGG	0.612																																																	0													73	65	68					11																	46430144		2202	4299	6501	SO:0001583	missense	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	25990	protein-coding gene	gene with protein product	"WD repeat domain 94", "DDB1 and CUL4 associated factor 3"	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3322G>T	11.37:g.46430144C>A	ENSP00000415327:p.Ala1108Ser		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1108S	ENST00000458649.2	37	c.3322		11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226791	0.79576	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000526545;ENST00000528950	T;T;T;T;T;T;T	0.72394	-0.47;-0.65;-0.25;-0.37;-0.25;-0.34;-0.37	5.38	3.49	0.39957	.	0.248630	0.41938	N	0.000788	T	0.54806	0.1881	N	0.24115	0.695	0.39725	D	0.971528	B;B;B;B;B;B	0.24823	0.004;0.007;0.007;0.009;0.112;0.009	B;B;B;B;B;B	0.17722	0.006;0.007;0.013;0.009;0.019;0.009	T	0.54774	-0.8243	10	0.72032	D	0.01	.	10.4953	0.44775	0.1342:0.7965:0.0:0.0693	.	1108;1079;1048;989;1111;1018	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	S	1018;989;1048;1079;1048;1108;66;1079	ENSP00000318313:A1018S;ENSP00000433372:A989S;ENSP00000431926:A1048S;ENSP00000410899:A1079S;ENSP00000298834:A1048S;ENSP00000415327:A1108S;ENSP00000433945:A1079S	ENSP00000298834:A1048S	A	-	1	0	AMBRA1	46386720	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.942000	0.49018	0.742000	0.32697	-0.339000	0.08088	GCC	AMBRA1	-	NULL	ENSG00000110497		0.612	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	-	0	31	0	C	NM_017749		46430144	-1	tier1	-	no_errors	ENST00000458649	ensembl	human	known	74_37	missense	29.69	45	19	SNP	1.000	A	A	46430144	C	A	46430144	3	1	110	1	0	0	0	0	1	0	0	0	565	739	26	3	582	3	AMBRA1	11	46430144	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	29096533	46430144	88576372	145	29948											
OR8K5	219453	genome.wustl.edu	37	chr11	55927473	55927473	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaaaaattcactgataatGaacataaggaagaatgccag	20	8	8	5	0	1	4	1	3	0	1	1	5	1	5	1	1	2	0	1	1	7	3	rs267602995		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:55927473G>C	ENST00000313447.1	-	1	320	c.321C>G	c.(319-321)ttC>ttG	p.F107L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CACTGATAATGAACATAAGGA	0.418																																																	0													89	88	88					11																	55927473		2201	4295	6496	SO:0001583	missense	0			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"GPCR / Class A : Olfactory receptors"	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.321C>G	11.37:g.55927473G>C	ENSP00000323853:p.Phe107Leu		Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F107L	ENST00000313447.1	37	c.321	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840892	0.32513	.	.	ENSG00000181752	ENST00000313447	T	0.01871	4.59	3.88	-1.8	0.07907	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000015	T	0.03564	0.0102	N	0.12961	0.28	0.09310	N	0.999999	D	0.76494	0.999	D	0.79784	0.993	T	0.36720	-0.9736	10	0.49607	T	0.09	.	9.1876	0.37180	0.6029:0.0:0.3971:0.0	.	107	Q8NH50	OR8K5_HUMAN	L	107	ENSP00000323853:F107L	ENSP00000323853:F107L	F	-	3	2	OR8K5	55684049	0.000000	0.05858	0.165000	0.22776	0.309000	0.27889	-0.421000	0.07053	-0.210000	0.10140	-0.268000	0.10319	TTC	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181752		0.418	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	-	0	27	0	G	NM_001004058		55927473	-1	tier1	-	no_errors	ENST00000313447	ensembl	human	known	74_37	missense	50.00	23	23	SNP	0.026	C	C	55927473	G	C	55927473	3	2	110	1	0	0	0	0	1	0	0	0	11284	1281	45	5	605	5	OR8K5	11	55927473	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	9497329	55927473	79079043	146	29949											
OR5T2	219464	genome.wustl.edu	37	chr11	56000131	56000131	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagtggcatgtagactctGggtgacatgctcactgaata	11	11	12	7	0	2	4	1	3	1	1	2	4	2	4	0	2	1	3	0	2	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:56000131G>C	ENST00000313264.4	-	1	606	c.531C>G	c.(529-531)ccC>ccG	p.P177P		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTAGACTCTGGGTGACATGC	0.448																																																	0													202	171	182					11																	56000131		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"GPCR / Class A : Olfactory receptors"	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.531C>G	11.37:g.56000131G>C			B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P177	ENST00000313264.4	37	c.531	CCDS31523.1	11																																																																																			OR5T2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181718		0.448	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	-	0	71	0	G	NM_001004746		56000131	-1	tier1	-	no_errors	ENST00000313264	ensembl	human	known	74_37	silent	41.59	66	47	SNP	0.002	C	C	56000131	G	C	56000131	2	2	110	1	0	0	0	0	0	0	0	1	11221	1335	47	5		5	OR5T2	11	56000131	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	72658	56000131	79006385	147	29950											
GPR44	11251	genome.wustl.edu	37	chr11	60620689	60620689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccgcgagatggtgtcccgGaacacgaaatagggcaccgt	11	5	14	11	5	0	1	0	0	0	1	1	4	1	2	3	3	2	1	3	3	3	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:60620689G>A	ENST00000332539.4	-	2	618	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	169					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGTGTCCCGGAACACGAAAT	0.647																																																	0													42	43	43					11																	60620689		2203	4299	6502	SO:0001819	synonymous_variant	0			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"CD molecules", "GPCR / Class A : Prostanoid receptors"	4502	protein-coding gene	gene with protein product	"chemoattractant receptor homologous molecule expressed on T helper type 2 cells"	604837	"G protein-coupled receptor 44"	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.507C>T	11.37:g.60620689G>A			O94765|Q4QRI6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt,prints_Anphylx_rcpt	p.F169	ENST00000332539.4	37	c.507	CCDS7994.1	11																																																																																			PTGDR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Anphylx_rcpt	ENSG00000183134		0.647	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR2	HGNC	protein_coding	OTTHUMT00000396328.1	-	0	39	0	G	NM_004778		60620689	-1	tier1	-	no_errors	ENST00000332539	ensembl	human	known	74_37	silent	80.00	4	16	SNP	1.000	A	A	60620689	G	A	60620689	2	1	110	1	0	0	0	0	0	0	0	1	6721	1165	41	3		3	GPR44	11	60620689	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4620558	60620689	74385827	148	29951											
CD6	923	genome.wustl.edu	37	chr11	60785799	60785799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctccagcacctcatccGgggagtggtaccagaacttc	10	7	10	14	1	1	1	1	0	0	1	4	2	3	2	4	3	4	3	4	3	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:60785799G>A	ENST00000313421.7	+	12	2062	c.1876G>A	c.(1876-1878)Ggg>Agg	p.G626R	CD6_ENST00000346437.4_Missense_Mutation_p.G553R|CD6_ENST00000452451.2_Intron|CD6_ENST00000352009.5_Intron|CD6_ENST00000344028.5_Missense_Mutation_p.G594R	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	626					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CACCTCATCCGGGGAGTGGTA	0.627																																					Pancreas(169;904 2017 4767 38890 42505)												0													29	28	28					11																	60785799		2202	4299	6501	SO:0001583	missense	0				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"CD molecules"	1691	protein-coding gene	gene with protein product		186720	"CD6 antigen"			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1876G>A	11.37:g.60785799G>A	ENSP00000323280:p.Gly626Arg		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G626R	ENST00000313421.7	37	c.1876	CCDS7999.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661793	0.88154	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421	T;T;T	0.13307	2.81;2.6;3.24	5.44	5.44	0.79542	.	0.798159	0.10650	N	0.649998	T	0.38719	0.1051	M	0.66939	2.045	0.37332	D	0.910014	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.12811	-1.0533	10	0.87932	D	0	.	14.7726	0.69691	0.0:0.0:1.0:0.0	.	626;625	P30203;Q8N4Q7	CD6_HUMAN;.	R	594;553;626	ENSP00000344108:G594R;ENSP00000345566:G553R;ENSP00000323280:G626R	ENSP00000323280:G626R	G	+	1	0	CD6	60542375	1.000000	0.71417	0.946000	0.38457	0.961000	0.63080	4.852000	0.62904	2.561000	0.86390	0.563000	0.77884	GGG	CD6	-	NULL	ENSG00000013725		0.627	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD6	HGNC	protein_coding	OTTHUMT00000396449.1	-	0	57	0	G	NM_006725		60785799	1	tier1	-	no_errors	ENST00000313421	ensembl	human	known	74_37	missense	93.33	2	28	SNP	0.998	A	A	60785799	G	A	60785799	3	1	110	1	0	0	0	0	1	0	0	0	3035	1116	39	1	1922	1	CD6	11	60785799	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	165110	60785799	74220717	149	29952											
CCDC87	55231	genome.wustl.edu	37	chr11	66358083	66358083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtccaggtagggccgccCcttgaagatcactggctcgc	6	9	12	14	2	1	2	1	1	0	1	3	2	2	2	4	3	0	2	4	3	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:66358083C>A	ENST00000333861.3	-	1	2471	c.2404G>T	c.(2404-2406)Ggg>Tgg	p.G802W	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	802					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TAGGGCCGCCCCTTGAAGATC	0.542																																																	0													177	187	184					11																	66358083		2200	4295	6495	SO:0001583	missense	0			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2404G>T	11.37:g.66358083C>A	ENSP00000328487:p.Gly802Trp		Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.G802W	ENST00000333861.3	37	c.2404	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295736	0.60086	.	.	ENSG00000182791	ENST00000333861	T	0.55588	0.51	5.6	5.6	0.85130	.	0.097305	0.41097	D	0.000958	T	0.73040	0.3536	M	0.79475	2.455	0.49915	D	0.999837	D	0.89917	1.0	D	0.97110	1.0	T	0.75855	-0.3170	10	0.72032	D	0.01	.	15.0991	0.72258	0.0:1.0:0.0:0.0	.	802	Q9NVE4	CCD87_HUMAN	W	802	ENSP00000328487:G802W	ENSP00000328487:G802W	G	-	1	0	CCDC87	66114659	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	4.508000	0.60441	2.639000	0.89480	0.561000	0.74099	GGG	CCDC87	-	pfam_MAP65_Ase1_PRC1	ENSG00000182791		0.542	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	-	0	23	0	C	NM_018219		66358083	-1	tier1	-	no_errors	ENST00000333861	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	A	A	66358083	C	A	66358083	3	1	110	1	0	0	0	0	1	0	0	0	2869	623	22	3	149	3	CCDC87	11	66358083	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	5572284	66358083	68648433	150	29953											
PPP1CA	5499	genome.wustl.edu	37	chr11	67168163	67168163	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcagaccactcacactCatcgtagaaaccatagatgc	14	7	6	14	2	3	3	3	0	0	3	4	3	3	3	2	0	2	2	2	0	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:67168163C>A	ENST00000376745.4	-	3	563	c.415G>T	c.(415-417)Gag>Tag	p.E139*	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Nonsense_Mutation_p.E95*|PPP1CA_ENST00000312989.7_Nonsense_Mutation_p.E150*	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	139					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CACTCACACTCATCGTAGAAA	0.547																																																	0													78	72	74					11																	67168163		2200	4295	6495	SO:0001587	stop_gained	0				CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9281	protein-coding gene	gene with protein product		176875	"protein phosphatase 1, catalytic subunit, alpha isoform"	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.415G>T	11.37:g.67168163C>A	ENSP00000365936:p.Glu139*		A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Nonsense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.E150*	ENST00000376745.4	37	c.448	CCDS8160.1	11	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629819	0.87660	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239;ENST00000527663	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9305	0.86189	0.0:1.0:0.0:0.0	.	.	.	.	X	150;236;139;95;139	.	ENSP00000326031:E150X	E	-	1	0	PPP1CA	66924739	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	7.795000	0.85887	2.270000	0.75569	0.563000	0.77884	GAG	PPP1CA	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000172531		0.547	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CA	HGNC	protein_coding	OTTHUMT00000395487.1	-	0	31	0	C	NM_002708		67168163	-1	tier1	-	no_errors	ENST00000312989	ensembl	human	known	74_37	nonsense	16.00	105	20	SNP	1.000	A	A	67168163	C	A	67168163	4	1	110	1	0	0	0	0	0	1	0	0	12391	835	29	3	597	3	PPP1CA	11	67168163	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	810080	67168163	67838353	151	29954											
SHANK2	22941	genome.wustl.edu	37	chr11	70332808	70332808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggacataattcccggggCcggctgtgccgctgctcgcg	4	8	16	13	5	0	0	0	0	0	0	2	1	1	1	3	5	2	3	3	5	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:70332808C>G	ENST00000423696.2	-	15	2489	c.2453G>C	c.(2452-2454)gGc>gCc	p.G818A	SHANK2_ENST00000449833.2_Missense_Mutation_p.G602A|SHANK2_ENST00000409161.1_Missense_Mutation_p.G601A|SHANK2_ENST00000338508.4_Missense_Mutation_p.G1198A			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	818					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATTCCCGGGGCCGGCTGTGCC	0.682																																																	0													22	29	26					11																	70332808		2194	4291	6485	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	14295	protein-coding gene	gene with protein product		603290	"cortactin binding protein 1"	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2453G>C	11.37:g.70332808C>G	ENSP00000394536:p.Gly818Ala		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.G1198A	ENST00000423696.2	37	c.3593		11	.	.	.	.	.	.	.	.	.	.	C	1.156	-0.645105	0.03531	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	4.64	4.64	0.57946	.	5.182010	0.03842	N	0.270853	T	0.41743	0.1172	L	0.40543	1.245	0.32036	N	0.598936	B;B;B	0.31351	0.133;0.32;0.11	B;B;B	0.32393	0.062;0.145;0.067	T	0.33085	-0.9882	10	0.05620	T	0.96	.	13.147	0.59467	0.0:0.8402:0.1597:0.0	.	818;1197;602	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	A	602;601;476;1198;818;836;821	ENSP00000399423:G602A;ENSP00000386491:G601A;ENSP00000402944:G476A;ENSP00000345193:G1198A;ENSP00000394536:G818A;ENSP00000294018:G821A	ENSP00000294018:G821A	G	-	2	0	SHANK2	70010456	0.862000	0.29867	0.808000	0.32385	0.064000	0.16182	1.357000	0.34090	2.125000	0.65367	0.561000	0.74099	GGC	SHANK2	-	NULL	ENSG00000162105		0.682	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		-	0	46	0	C	NM_012309		70332808	-1	tier1	-	no_errors	ENST00000338508	ensembl	human	known	74_37	missense	10.49	145	17	SNP	0.739	G	G	70332808	C	G	70332808	3	3	110	1	0	0	0	0	1	0	0	0	14310	739	26	5	1967	5	SHANK2	11	70332808	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	3164645	70332808	64673708	152	29955											
GDPD4	220032	genome.wustl.edu	37	chr11	76954790	76954790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacatttattatactgataTtgtttttagcaagggtttca	12	18	6	5	0	1	1	1	1	0	0	1	1	1	1	0	1	3	3	0	1	7	10	rs202143817		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:76954790T>A	ENST00000376217.2	-	12	1440	c.1190A>T	c.(1189-1191)aAt>aTt	p.N397I	GDPD4_ENST00000315938.4_Missense_Mutation_p.N397I			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	397	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TATACTGATATTGTTTTTAGC	0.418																																																	0													125	116	119					11																	76954790		2200	4292	6492	SO:0001583	missense	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.1190A>T	11.37:g.76954790T>A	ENSP00000365390:p.Asn397Ile		Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.N397I	ENST00000376217.2	37	c.1190		11	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548104	0.65311	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.10477	2.87;2.87	4.27	4.27	0.50696	.	0.219154	0.46145	D	0.000315	T	0.28067	0.0692	M	0.65975	2.015	0.38441	D	0.946718	D	0.76494	0.999	D	0.70016	0.967	T	0.05632	-1.0873	10	0.66056	D	0.02	-23.5961	11.1756	0.48596	0.0:0.0:0.0:1.0	.	397	Q6W3E5-2	.	I	397	ENSP00000365390:N397I;ENSP00000320815:N397I	ENSP00000320815:N397I	N	-	2	0	GDPD4	76632438	1.000000	0.71417	0.719000	0.30619	0.107000	0.19398	3.815000	0.55651	1.921000	0.55644	0.533000	0.62120	AAT	GDPD4	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000178795		0.418	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1		0	51	0	T	NM_182833		76954790	-1			no_errors	ENST00000376217	ensembl	human	known	74_37	missense	5.49	86	5	SNP	0.982	A	A	76954790	T	A	76954790	3	1	110	1	0	0	0	0	1	0	0	0	6352	1493	52	5	392	5	GDPD4	11	76954790	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	6621982	76954790	58051726	153	29956											
ODZ4	26011	genome.wustl.edu	37	chr11	78383285	78383286	+	Missense_Mutation	DNP	CC	CC	AA																															cccgcctggtcgtacagaatCcgaagggtgaacttgcggtg																								rs368379990		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:78383285_78383286CC>AA	ENST00000278550.7	-	31	6047_6048	c.5585_5586GG>TT	c.(5584-5586)cGG>cTT	p.R1862L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1862					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGTACAGAATCCGAAGGGTGAA	0.554																																																	0																																										SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"odz, odd Oz/ten-m homolog 4 (Drosophila)"	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5585_5586delinsAA	11.37:g.78383285_78383286delinsAA	ENSP00000278550:p.Arg1862Leu		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent|Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1862|p.R1862L	ENST00000278550.7	37	c.5586|c.5585	CCDS44688.1	11																																																																																			TENM4	-	NULL	ENSG00000149256		0.554	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0	38	0	C			78383285|78383286	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	silent|missense	24.60|23.85	94|99	31	SNP	0.996|0.999	A	AA	78383286	CC	AA	78383285	3	1	110	1	0	0	0	0	1	0	0	0	10876	842	30	3	2739	3	ODZ4	11	78383285	Missense_Mutation	DNP	CC	TCGA-LN-A49Y-01A-11D-A27G-09	1428495	78383285	56623231	154	29957											
ELMOD1	55531	genome.wustl.edu	37	chr11	107518316	107518316	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaatgggacttctgggactGtacaatttgcagtaagtaaa	13	11	12	5	0	1	0	0	0	1	0	1	3	1	3	0	3	2	4	0	3	6	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:107518316G>T	ENST00000265840.7	+	7	808	c.543G>T	c.(541-543)ctG>ctT	p.L181L	ELMOD1_ENST00000443271.2_Silent_p.L181L|ELMOD1_ENST00000531234.1_Silent_p.L175L	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	181	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TTCTGGGACTGTACAATTTGC	0.398																																																	0													108	105	106					11																	107518316		1890	4114	6004	SO:0001819	synonymous_variant	0			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.543G>T	11.37:g.107518316G>T			B4E167|G5E9S5|Q9NPW3	Silent	SNP	pfam_Engulfment_cell_motility_ELMO	p.L181	ENST00000265840.7	37	c.543	CCDS44723.1	11																																																																																			ELMOD1	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000110675		0.398	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ELMOD1	HGNC	protein_coding	OTTHUMT00000389406.1	-	0	49	0	G	NM_018712		107518316	1	tier1	-	no_errors	ENST00000265840	ensembl	human	known	74_37	silent	49.32	37	36	SNP	0.997	T	T	107518316	G	T	107518316	2	4	110	1	0	0	0	0	0	0	0	1	5084	1364	48	3		3	ELMOD1	11	107518316	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	29135031	107518316	27488200	155	29958											
ATM	472	genome.wustl.edu	37	chr11	108117828	108117828	+	Missense_Mutation	SNP	G	G	A																															ccgtcaaagaaaatttgattGaattgatggcagatatctgt																								rs529202615	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:108117828G>A	ENST00000452508.2	+	9	1228	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	ATM_ENST00000278616.4_Missense_Mutation_p.E347K			Q13315	ATM_HUMAN	ATM serine/threonine kinase	347					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAATTTGATTGAATTGATGGC	0.333			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													59	60	60					11																	108117828		2201	4297	6498	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1039G>A	11.37:g.108117828G>A	ENSP00000388058:p.Glu347Lys		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E347K	ENST00000452508.2	37	c.1039	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171635	0.78452	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.68181	-0.31;-0.31;-0.31	5.72	5.72	0.89469	Armadillo-type fold (1);	0.222920	0.44688	D	0.000425	T	0.66886	0.2835	M	0.63843	1.955	0.36594	D	0.87426	P	0.35745	0.518	B	0.35182	0.197	T	0.70081	-0.4970	10	0.33141	T	0.24	.	19.8868	0.96915	0.0:0.0:1.0:0.0	.	347	Q13315	ATM_HUMAN	K	347	ENSP00000435747:E347K;ENSP00000278616:E347K;ENSP00000388058:E347K	ENSP00000278616:E347K	E	+	1	0	ATM	107623038	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.709000	0.92574	0.655000	0.94253	GAA	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	28	0	G	NM_000051		108117828	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	44.74	21	17	SNP	1.000	A	A	108117828	G	A	108117828	3	1	110	1	0	0	0	0	1	0	0	0	1110	1291	45	3	1065	3	ATM	11	108117828	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	599512	108117828	26888688	156	29959	108	2									
ATM	472	genome.wustl.edu	37	chr11	108117836	108117836	+	Missense_Mutation	SNP	G	G	A																															gaaaatttgattgaattgatGgcagatatctgtcaccaggt																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:108117836G>A	ENST00000452508.2	+	9	1236	c.1047G>A	c.(1045-1047)atG>atA	p.M349I	ATM_ENST00000278616.4_Missense_Mutation_p.M349I			Q13315	ATM_HUMAN	ATM serine/threonine kinase	349					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGAATTGATGGCAGATATCT	0.333			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"L, O"	0													60	61	60					11																	108117836		2201	4296	6497	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"TEL1, telomere maintenance 1, homolog (S. cerevisiae)"	607585	"ataxia telangiectasia mutated (includes complementation groups A, C and D)", "ataxia telangiectasia mutated"	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1047G>A	11.37:g.108117836G>A	ENSP00000388058:p.Met349Ile		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M349I	ENST00000452508.2	37	c.1047	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093947	0.36952	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.61158	0.13;0.13;0.13	5.72	5.72	0.89469	Armadillo-type fold (1);	0.086790	0.85682	D	0.000000	T	0.56292	0.1975	M	0.62723	1.935	0.35682	D	0.814132	B	0.13145	0.007	B	0.14023	0.01	T	0.59888	-0.7369	10	0.37606	T	0.19	.	15.4869	0.75573	0.0:0.0:0.861:0.139	.	349	Q13315	ATM_HUMAN	I	349	ENSP00000435747:M349I;ENSP00000278616:M349I;ENSP00000388058:M349I	ENSP00000278616:M349I	M	+	3	0	ATM	107623046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.089000	0.41672	2.709000	0.92574	0.655000	0.94253	ATG	ATM	-	superfamily_ARM-type_fold	ENSG00000149311		0.333	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0	29	0	G	NM_000051		108117836	1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A	A	108117836	G	A	108117836	3	1	110	1	0	0	0	0	1	0	0	0	1110	1348	47	3	1073	3	ATM	11	108117836	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	8	108117836	26888680	157	29960	108	2									
TMPRSS5	80975	genome.wustl.edu	37	chr11	113569745	113569745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcagcaggacacagataCagcactttagagaagaacaa	18	4	11	8	0	0	3	0	0	0	3	0	6	0	4	0	2	4	3	0	2	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:113569745C>A	ENST00000299882.5	-	4	358	c.210G>T	c.(208-210)ctG>ctT	p.L70L	TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000538955.1_Silent_p.L26L|TMPRSS5_ENST00000544476.1_Silent_p.L26L|TMPRSS5_ENST00000545579.1_Silent_p.L61L|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000544634.1_Silent_p.L70L	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	70					proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		GACACAGATACAGCACTTTAG	0.542																																																	0													40	43	42					11																	113569745		2011	4188	6199	SO:0001819	synonymous_variant	0			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"Serine peptidases / Transmembrane"	14908	protein-coding gene	gene with protein product	"spinesin"	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.210G>T	11.37:g.113569745C>A				Silent	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L70	ENST00000299882.5	37	c.210	CCDS44735.1	11																																																																																			TMPRSS5	-	NULL	ENSG00000166682		0.542	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	HGNC	protein_coding	OTTHUMT00000398652.1	-	0	38	0	C	NM_030770		113569745	-1	tier1	-	no_errors	ENST00000299882	ensembl	human	known	74_37	silent	69.05	13	29	SNP	0.998	A	A	113569745	C	A	113569745	2	1	110	1	0	0	0	0	0	0	0	1	16297	465	17	3		3	TMPRSS5	11	113569745	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	5451909	113569745	21436771	158	29961											
USP2	9099	genome.wustl.edu	37	chr11	119243625	119243625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggtattcagggcagctgGctgtctggtagagcccctgc	6	9	14	12	0	2	1	1	0	1	1	2	1	2	1	3	4	3	5	3	4	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:119243625G>A	ENST00000260187.2	-	2	860	c.566C>T	c.(565-567)gCc>gTc	p.A189V	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	189	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGGGCAGCTGGCTGTCTGGTA	0.637																																																	0													65	68	67					11																	119243625		2199	4295	6494	SO:0001583	missense	0			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"Ubiquitin-specific peptidases"	12618	protein-coding gene	gene with protein product		604725	"ubiquitin specific protease 2"			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.566C>T	11.37:g.119243625G>A	ENSP00000260187:p.Ala189Val		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.A189V	ENST00000260187.2	37	c.566	CCDS8422.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183847	0.78677	.	.	ENSG00000036672	ENST00000260187;ENST00000530918	T	0.20069	2.1	5.52	5.52	0.82312	.	0.460130	0.23928	N	0.043179	T	0.23649	0.0572	N	0.24115	0.695	0.80722	D	1	P	0.52316	0.952	P	0.49477	0.612	T	0.01205	-1.1419	10	0.59425	D	0.04	-7.7575	16.6032	0.84821	0.0:0.0:1.0:0.0	.	189	O75604	UBP2_HUMAN	V	189;159	ENSP00000260187:A189V	ENSP00000260187:A189V	A	-	2	0	USP2	118748835	1.000000	0.71417	0.996000	0.52242	0.493000	0.33554	5.068000	0.64364	2.578000	0.87016	0.655000	0.94253	GCC	USP2	-	NULL	ENSG00000036672		0.637	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP2	HGNC	protein_coding	OTTHUMT00000388361.2		0	26	0	G	NM_171997		119243625	-1			no_errors	ENST00000260187	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A	A	119243625	G	A	119243625	3	1	110	1	0	0	0	0	1	0	0	0	17100	1203	42	3	1450	3	USP2	11	119243625	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	5673880	119243625	15762891	159	29962											
OR6T1	219874	genome.wustl.edu	37	chr11	123814164	123814164	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcatagcggagtggtcGgcagattgccaggtaacgat	9	9	15	8	3	1	1	1	0	1	1	3	3	1	2	1	5	3	2	1	5	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr11:123814164G>A	ENST00000321252.2	-	1	416	c.382C>T	c.(382-384)Cga>Tga	p.R128*		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CGGAGTGGTCGGCAGATTGCC	0.542																																																	0													80	69	72					11																	123814164		2202	4299	6501	SO:0001587	stop_gained	0			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"GPCR / Class A : Olfactory receptors"	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.382C>T	11.37:g.123814164G>A	ENSP00000325203:p.Arg128*		Q6IFE7	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R128*	ENST00000321252.2	37	c.382	CCDS31700.1	11	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684802	0.68157	.	.	ENSG00000181499	ENST00000321252	.	.	.	3.85	-0.914	0.10497	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-18.9543	12.1228	0.53902	0.0:0.0:0.2495:0.7505	.	.	.	.	X	128	.	ENSP00000325203:R128X	R	-	1	2	OR6T1	123319374	0.000000	0.05858	0.006000	0.13384	0.956000	0.61745	-2.279000	0.01159	-0.404000	0.07610	0.563000	0.77884	CGA	OR6T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181499		0.542	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1	-	0	41	0	G	NM_001005187		123814164	-1	tier1	-	no_errors	ENST00000321252	ensembl	human	known	74_37	nonsense	60.24	33	50	SNP	0.001	A	A	123814164	G	A	123814164	4	1	110	1	0	0	0	0	0	1	0	0	11249	1124	39	1	592	1	OR6T1	11	123814164	Nonsense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4570539	123814164	11192352	160	29963											
GRIN2B	2904	genome.wustl.edu	37	chr12	13716394	13716394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctggtccagttcctgcaGggagttgtcctcactgatgt	5	12	13	11	1	1	1	1	1	0	0	4	2	4	2	3	3	1	4	3	3	0	2	rs200902451		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:13716394G>A	ENST00000609686.1	-	13	3987	c.3778C>T	c.(3778-3780)Ctg>Ttg	p.L1260L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1260					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTTCCTGCAGGGAGTTGTCC	0.597																																																	0													74	78	77					12																	13716394		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3778C>T	12.37:g.13716394G>A			Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L1260	ENST00000609686.1	37	c.3778	CCDS8662.1	12																																																																																			GRIN2B	-	pfam_NMDAR2_C	ENSG00000273079		0.597	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0	31	0	G			13716394	-1	tier1	-	no_errors	ENST00000609686	ensembl	human	known	74_37	silent	56.76	16	21	SNP	1.000	A	A	13716394	G	A	13716394	2	1	110	1	0	0	0	0	0	0	0	1	6807	991	35	3		3	GRIN2B	12	13716394	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09		13716394	120135501	161	29964											
PLCZ1	93661	genome.wustl.edu	37	chr12	18889200	18889200	+	5'Flank	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactgcaccgaatatctaaTttttcaagtaacctctgagt	13	14	5	9	1	3	1	1	1	2	0	3	2	3	1	2	0	3	2	2	0	6	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:18889200T>A	ENST00000317658.3	+	0	0				PLCZ1_ENST00000447925.2_Missense_Mutation_p.K28N|PLCZ1_ENST00000435379.1_Missense_Mutation_p.K28N|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Missense_Mutation_p.K30N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K30N	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAATATCTAATTTTTCAAGTA	0.358																																																	0													89	91	90					12																	18889200		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889200T>A	Exception_encountered		Q969J0	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K30N	ENST00000317658.3	37	c.90	CCDS8681.1	12	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502942	0.44558	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875;ENST00000539072	T;T;T;T;T	0.50548	0.74;0.74;1.62;1.61;0.74	5.5	2.82	0.32997	EF-hand-like domain (1);	0.000000	0.64402	D	0.000005	T	0.37210	0.0995	L	0.61218	1.895	0.80722	D	1	P	0.38535	0.635	B	0.30495	0.116	T	0.17623	-1.0363	10	0.33940	T	0.23	.	8.4798	0.33036	0.0:0.1854:0.0:0.8146	.	30	Q86YW0	PLCZ1_HUMAN	N	30;28;28;30;50	ENSP00000266505:K30N;ENSP00000402358:K28N;ENSP00000400504:K28N;ENSP00000445026:K30N;ENSP00000438629:K50N	ENSP00000266505:K30N	K	-	3	2	PLCZ1	18780467	0.998000	0.40836	0.994000	0.49952	0.934000	0.57294	0.767000	0.26575	0.933000	0.37291	0.260000	0.18958	AAA	PLCZ1	-	NULL	ENSG00000139151		0.358	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401902.1	-	0	64	0	T	NM_033328		18889200	-1	tier1	-	no_errors	ENST00000266505	ensembl	human	known	74_37	missense	48.65	38	36	SNP	0.994	A	A	18889200	T	A	18889200	1	1	110	0	1	0	0	0	0	0	0	0	12083	1490	52	5		5	PLCZ1	12	18889200	5'Flank	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	5172806	18889200	114962695	162	29965											
SLCO1C1	53919	genome.wustl.edu	37	chr12	20876174	20876174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacagtcatcctccagggCcaactttgtgatcggtatgc	8	11	11	11	1	1	1	1	1	0	0	4	2	3	2	3	3	2	1	3	3	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:20876174C>A	ENST00000266509.2	+	9	1540	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.A342D|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.A391D|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.A273D|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.A391D	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	391					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TCCTCCAGGGCCAACTTTGTG	0.448																																																	0													148	128	135					12																	20876174		2203	4300	6503	SO:0001583	missense	0			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"Solute carriers"	13819	protein-coding gene	gene with protein product		613389	"solute carrier family 21 (organic anion transporter), member 14"	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1172C>A	12.37:g.20876174C>A	ENSP00000266509:p.Ala391Asp		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.A391D	ENST00000266509.2	37	c.1172	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984434	0.74474	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	4.54	4.54	0.55810	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.107618	0.64402	D	0.000004	T	0.81716	0.4881	M	0.94021	3.485	0.51482	D	0.999929	D;D;D;D	0.69078	0.997;0.976;0.979;0.976	D;D;D;D	0.69654	0.962;0.965;0.948;0.965	D	0.87072	0.2160	10	0.72032	D	0.01	.	17.8397	0.88712	0.0:1.0:0.0:0.0	.	273;342;391;391	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	D	391;342;391;391;273	ENSP00000444149:A391D;ENSP00000438665:A342D;ENSP00000266509:A391D;ENSP00000370964:A391D;ENSP00000444527:A273D	ENSP00000266509:A391D	A	+	2	0	SLCO1C1	20767441	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	5.459000	0.66685	2.510000	0.84645	0.561000	0.74099	GCC	SLCO1C1	-	pfam_OA_transporter,pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000139155		0.448	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	HGNC	protein_coding	OTTHUMT00000401765.1	-	0	64	0	C	NM_017435		20876174	1	tier1	-	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	41.94	36	26	SNP	1.000	A	A	20876174	C	A	20876174	3	1	110	1	0	0	0	0	1	0	0	0	14770	739	26	3	1202	3	SLCO1C1	12	20876174	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	1986974	20876174	112975721	163	29966											
ABCC9	10060	genome.wustl.edu	37	chr12	22012598	22012598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccccactcaggttgatGccctagagaagagacacccc	10	7	9	15	0	1	3	1	1	0	2	2	5	2	3	5	1	1	1	5	1	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:22012598G>T	ENST00000261201.4	-	20	2426	c.2427C>A	c.(2425-2427)ggC>ggA	p.G809G	ABCC9_ENST00000345162.2_Silent_p.G773G|ABCC9_ENST00000261200.4_Silent_p.G809G|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	809	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TCAGGTTGATGCCCTAGAGAA	0.383																																																	0													159	160	159					12																	22012598		2203	4300	6503	SO:0001819	synonymous_variant	0			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"ATP binding cassette transporters / subfamily C"	60	protein-coding gene	gene with protein product	"sulfonylurea receptor 2"	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2427C>A	12.37:g.22012598G>T			O60707	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2	p.G809	ENST00000261201.4	37	c.2427	CCDS8694.1	12																																																																																			ABCC9	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000069431		0.383	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	0	13	0	G	NM_005691		22012598	-1	tier1	-	no_errors	ENST00000261200	ensembl	human	known	74_37	silent	39.53	26	17	SNP	0.988	T	T	22012598	G	T	22012598	2	4	110	1	0	0	0	0	0	0	0	1	59	1306	46	3		3	ABCC9	12	22012598	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1136424	22012598	111839297	164	29967											
OVCH1	341350	genome.wustl.edu	37	chr12	29617440	29617440	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaaaaatatgcttacCtgcactgatgcttccccatc	12	11	5	13	0	0	1	0	1	0	0	2	1	1	1	3	0	6	4	3	0	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:29617440C>A	ENST00000318184.5	-	18	2124	c.2125G>T	c.(2125-2127)Gat>Tat	p.D709Y	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	709	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATATGCTTACCTGCACTGATG	0.458																																																	0													43	42	42					12																	29617440		1924	4133	6057	SO:0001630	splice_region_variant	0			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2125+1G>T	12.37:g.29617440C>A				Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.D709Y	ENST00000318184.5	37	c.2125		12	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884122	0.51908	.	.	ENSG00000187950	ENST00000318184	D	0.89123	-2.47	2.97	2.97	0.34412	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.89774	0.6812	L	0.36672	1.1	0.30273	N	0.79205	D	0.76494	0.999	D	0.64144	0.922	D	0.84909	0.0847	8	.	.	.	.	12.1861	0.54239	0.0:1.0:0.0:0.0	.	709	Q7RTY7	OVCH1_HUMAN	Y	709	ENSP00000326708:D709Y	.	D	-	1	0	OVCH1	29508707	0.994000	0.37717	0.282000	0.24776	0.086000	0.17979	1.476000	0.35420	1.956000	0.56807	0.655000	0.94253	GAT	OVCH1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000187950		0.458	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	-	0	36	0	C	NM_183378	Missense_Mutation	29617440	-1	tier1	-	no_errors	ENST00000318184	ensembl	human	known	74_37	missense	57.69	22	30	SNP	0.993	A	A	29617440	C	A	29617440	5	1	110	1	0	0	0	0	0	0	1	0	11362	695	24	3	1323	3	OVCH1	12	29617440	Splice_Site	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	7604842	29617440	104234455	165	29968											
NELL2	4753	genome.wustl.edu	37	chr12	45059341	45059341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacccggggtgttgacaCacattgtattttcacgacag	12	10	10	9	2	1	2	1	1	0	1	1	3	1	2	1	2	1	2	1	2	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:45059341C>T	ENST00000429094.2	-	13	1874	c.1370G>A	c.(1369-1371)tGt>tAt	p.C457Y	NELL2_ENST00000551601.1_Missense_Mutation_p.C456Y|NELL2_ENST00000549027.1_Missense_Mutation_p.C456Y|NELL2_ENST00000452445.2_Missense_Mutation_p.C457Y|NELL2_ENST00000395487.2_Missense_Mutation_p.C456Y|NELL2_ENST00000437801.2_Missense_Mutation_p.C507Y|NELL2_ENST00000333837.4_Missense_Mutation_p.C480Y	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	457	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.C507F(1)|p.C457F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGTGTTGACACACATTGTATT	0.413																																																	2	Substitution - Missense(2)	lung(2)											88	85	86					12																	45059341		2203	4300	6503	SO:0001583	missense	0			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"nel (chicken)-like 2"			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1370G>A	12.37:g.45059341C>T	ENSP00000390680:p.Cys457Tyr		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C	p.C507Y	ENST00000429094.2	37	c.1520	CCDS8746.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257237|4.257237	0.80246|0.80246	.|.	.|.	ENSG00000184613|ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684|ENST00000550313	D;D;D;D;D;D;D|.	0.99445|.	-5.76;-5.76;-5.12;-5.76;-5.76;-5.91;-5.12|.	5.28|5.28	5.28|5.28	0.74379|0.74379	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91503|0.91503	0.7317|0.7317	H|H	0.99225|0.99225	4.475|4.475	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.998;1.0;0.999;0.997;0.999;1.0|.	D;D;D;D;D;D|.	0.83275|.	0.972;0.996;0.974;0.996;0.983;0.996|.	D|D	0.95149|0.95149	0.8271|0.8271	10|5	0.87932|.	D|.	0|.	-9.8824|-9.8824	18.9014|18.9014	0.92444|0.92444	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	480;507;456;457;457;456|.	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2|.	.;.;.;.;NELL2_HUMAN;.|.	Y|M	456;457;456;457;456;480;507;456|201	ENSP00000378866:C456Y;ENSP00000390680:C457Y;ENSP00000449332:C456Y;ENSP00000394612:C457Y;ENSP00000447927:C456Y;ENSP00000327988:C480Y;ENSP00000416341:C507Y|.	ENSP00000327988:C480Y|.	C|V	-|-	2|1	0|0	NELL2|NELL2	43345608|43345608	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.702000|0.702000	0.40608|0.40608	7.484000|7.484000	0.81180|0.81180	2.452000|2.452000	0.82932|0.82932	0.650000|0.650000	0.86243|0.86243	TGT|GTG	NELL2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000184613		0.413	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	HGNC	protein_coding	OTTHUMT00000404180.1		0	24	0	C	NM_006159		45059341	-1			no_errors	ENST00000437801	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T	T	45059341	C	T	45059341	3	4	110	1	0	0	0	0	1	0	0	0	10373	478	17	3	1112	3	NELL2	12	45059341	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	15441901	45059341	88792554	166	29969											
OR6C65	403282	genome.wustl.edu	37	chr12	55794493	55794493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcctatgtatttcttcCtcaggaatttctctttctta	9	19	3	10	0	4	0	1	0	3	0	7	1	6	1	2	1	1	1	2	1	5	7			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:55794493C>T	ENST00000379665.2	+	1	280	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	61						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTATTTCTTCCTCAGGAATTT	0.318																																																	0													53	53	53					12																	55794493		2203	4299	6502	SO:0001583	missense	0				CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"GPCR / Class A : Olfactory receptors"	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.181C>T	12.37:g.55794493C>T	ENSP00000368986:p.Leu61Phe		B2RNH9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L61F	ENST00000379665.2	37	c.181	CCDS31821.1	12	.	.	.	.	.	.	.	.	.	.	C	13.09	2.133828	0.37630	.	.	ENSG00000205328	ENST00000379665	T	0.14391	2.51	3.84	2.94	0.34122	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31531	U	0.007495	T	0.39332	0.1074	H	0.98027	4.13	0.28023	N	0.934447	D	0.57571	0.98	P	0.52957	0.714	T	0.50180	-0.8858	10	0.72032	D	0.01	.	6.8169	0.23835	0.0:0.7022:0.0:0.2978	.	61	A6NJZ3	O6C65_HUMAN	F	61	ENSP00000368986:L61F	ENSP00000368986:L61F	L	+	1	0	OR6C65	54080760	0.998000	0.40836	0.862000	0.33874	0.524000	0.34500	1.183000	0.32041	0.951000	0.37770	0.424000	0.28305	CTC	OR6C65	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000205328		0.318	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C65	HGNC	protein_coding	OTTHUMT00000406674.1	-	0	21	0	C			55794493	1	tier1	-	no_errors	ENST00000379665	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.972	T	T	55794493	C	T	55794493	3	4	110	1	0	0	0	0	1	0	0	0	11234	681	24	3	183	3	OR6C65	12	55794493	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	10735152	55794493	78057402	167	29970											
INHBE	83729	genome.wustl.edu	37	chr12	57850479	57850479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattctgccgtcttcagcCtcctcaaagccaacaatcct	9	11	4	17	1	4	0	2	0	2	0	7	0	7	0	6	0	4	0	6	0	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:57850479C>T	ENST00000266646.2	+	2	1117	c.901C>T	c.(901-903)Ctc>Ttc	p.L301F	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	301					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CGTCTTCAGCCTCCTCAAAGC	0.587											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)												0													119	88	98					12																	57850479		2203	4300	6503	SO:0001583	missense	0				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.901C>T	12.37:g.57850479C>T	ENSP00000266646:p.Leu301Phe	1026		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.L301F	ENST00000266646.2	37	c.901	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966183	0.74131	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	T;T	0.67171	-0.25;-0.25	4.79	4.79	0.61399	Transforming growth factor-beta, C-terminal (3);	0.222920	0.39020	N	0.001482	T	0.79417	0.4442	M	0.80183	2.485	0.47374	D	0.999407	D	0.56287	0.975	D	0.63283	0.913	T	0.81430	-0.0936	10	0.72032	D	0.01	-10.4502	11.274	0.49155	0.0:0.9119:0.0:0.0881	.	301	P58166	INHBE_HUMAN	F	246;301	ENSP00000450212:L246F;ENSP00000266646:L301F	ENSP00000266646:L301F	L	+	1	0	INHBE	56136746	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.892000	0.69790	2.653000	0.90120	0.655000	0.94253	CTC	INHBE	-	pfam_TGF-b_C,smart_TGF-b_C	ENSG00000139269		0.587	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	-	0	18	0	C	NM_031479		57850479	1	tier1	-	no_errors	ENST00000266646	ensembl	human	known	74_37	missense	41.67	13	10	SNP	1.000	T	T	57850479	C	T	57850479	3	4	110	1	0	0	0	0	1	0	0	0	7771	681	24	3	907	3	INHBE	12	57850479	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2055986	57850479	76001416	168	29971											
C12orf64	283310	genome.wustl.edu	37	chr12	80615872	80615872	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttatcctgtttcttttcagtCccaaacatgggcaacggcag	9	13	8	11	1	2	0	1	0	1	0	4	0	4	0	2	2	2	3	2	2	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:80615872C>T	ENST00000547103.1	+	6	315	c.309C>T	c.(307-309)atC>atT	p.I103I	OTOGL_ENST00000458043.2_Splice_Site_p.I103I			Q3ZCN5	OTOGL_HUMAN	otogelin-like	103					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCTTTTCAGTCCCAAACATGG	0.358																																																	0													90	86	88					12																	80615872		1829	4076	5905	SO:0001630	splice_region_variant	0			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"chromosome 12 open reading frame 64"	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.308-1C>T	12.37:g.80615872C>T			F8W0C3|Q495U8|Q8N8G5|Q8NC28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.I103	ENST00000547103.1	37	c.309		12																																																																																			OTOGL	-	NULL	ENSG00000165899		0.358	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	-	0	12	0	C	NM_173591	Silent	80615872	1	tier1	-	no_errors	ENST00000458043	ensembl	human	known	74_37	silent	48.28	15	14	SNP	0.892	T	T	80615872	C	T	80615872	5	4	110	1	0	0	0	0	0	0	1	0	1712	869	30	3	331	3	C12orf64	12	80615872	Splice_Site	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	22765393	80615872	53236023	169	29972											
MYF6	4618	genome.wustl.edu	37	chr12	81102703	81102704	+	Frame_Shift_Ins	INS	-	-	A																															gtatttcctcggaggaacgcINSaaactcccctgcgtggagga																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:81102703_81102704insA	ENST00000228641.3	+	3	915_916	c.693_694insA	c.(694-696)aaafs	p.K232fs		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	232					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CGGAGGAACGCAAACTCCCCTG	0.535																																																	0																																										SO:0001589	frameshift_variant	0				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.696dupA	12.37:g.81102706_81102706dupA	ENSP00000228641:p.Lys232fs		B2R898|Q53X80|Q6FHI9	Frame_Shift_Ins	INS	pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.L232fs	ENST00000228641.3	37	c.693_694	CCDS9019.1	12																																																																																			MYF6	-	NULL	ENSG00000111046		0.535	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1		0	65	0	-	NM_002469		81102704	1	tier1		no_errors	ENST00000228641	ensembl	human	known	74_37	frame_shift_ins	41.86	50	36	INS	1.000:1.000	A	A	81102704	-	A	81102703	7	5	110	1	0	1	1	0	0	0	0	0	10066	697	25	0	703	0	MYF6	12	81102703	Frame_Shift_Ins	INS	-	TCGA-LN-A49Y-01A-11D-A27G-09	486831	81102703	52749192	170	29973											
ACSS3	79611	genome.wustl.edu	37	chr12	81472130	81472130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgaccccgagaggttctgGggcaaagctgccgagcagat	10	5	14	12	3	1	2	0	0	1	2	1	5	1	2	4	3	3	4	4	3	1	1	rs554106519		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:81472130G>T	ENST00000548058.1	+	1	1141	c.231G>T	c.(229-231)tgG>tgT	p.W77C	ACSS3_ENST00000261206.3_Missense_Mutation_p.W77C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	77						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGAGGTTCTGGGGCAAAGCTG	0.627																																																	0													42	39	40					12																	81472130		1998	4029	6027	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.231G>T	12.37:g.81472130G>T	ENSP00000449535:p.Trp77Cys		Q8NC66	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.W77C	ENST00000548058.1	37	c.231	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377795	0.61735	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.12255	2.7;2.7	4.92	4.92	0.64577	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71912	-0.4449	10	0.87932	D	0	-9.5761	15.1518	0.72706	0.0:0.0:1.0:0.0	.	77	Q9H6R3	ACSS3_HUMAN	C	77	ENSP00000449535:W77C;ENSP00000261206:W77C	ENSP00000261206:W77C	W	+	3	0	ACSS3	79996261	1.000000	0.71417	1.000000	0.80357	0.632000	0.37999	4.801000	0.62532	2.553000	0.86117	0.655000	0.94253	TGG	ACSS3	-	NULL	ENSG00000111058		0.627	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0	19	0	G	NM_024560		81472130	1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	missense	80.00	2	8	SNP	1.000	T	T	81472130	G	T	81472130	3	4	110	1	0	0	0	0	1	0	0	0	190	1241	43	3	233	3	ACSS3	12	81472130	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	369427	81472130	52379765	171	29974											
C12orf50	160419	genome.wustl.edu	37	chr12	88390397	88390397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcttcaatttcttcagGggtctttgtccataaactag	8	19	6	8	0	5	0	2	0	3	0	6	0	6	0	1	2	1	0	1	2	4	8			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:88390397G>T	ENST00000298699.2	-	5	496	c.316C>A	c.(316-318)Cct>Act	p.P106T	C12orf50_ENST00000550553.1_Missense_Mutation_p.P106T	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	106										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATTTCTTCAGGGGTCTTTGTC	0.269																																																	0													91	94	93					12																	88390397		2199	4296	6495	SO:0001583	missense	0			AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.316C>A	12.37:g.88390397G>T	ENSP00000298699:p.Pro106Thr		Q6P674	Missense_Mutation	SNP	NULL	p.P106T	ENST00000298699.2	37	c.316	CCDS9031.1	12	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227236	0.39399	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944	T;T	0.34275	1.39;1.37	5.18	2.31	0.28768	.	0.432772	0.22159	N	0.063809	T	0.32615	0.0835	M	0.70595	2.14	0.28452	N	0.916309	P;P	0.42296	0.775;0.51	B;B	0.39660	0.306;0.154	T	0.17289	-1.0374	10	0.33940	T	0.23	.	5.7563	0.18174	0.1812:0.179:0.6398:0.0	.	160;106	G3V208;Q8NA57	.;CL050_HUMAN	T	106;106;160	ENSP00000298699:P106T;ENSP00000448344:P106T	ENSP00000298699:P106T	P	-	1	0	C12orf50	86914528	1.000000	0.71417	0.970000	0.41538	0.954000	0.61252	1.569000	0.36428	0.545000	0.28902	0.563000	0.77884	CCT	C12orf50	-	NULL	ENSG00000165805		0.269	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf50	HGNC	protein_coding	OTTHUMT00000406328.1	-	0	34	0	G	NM_152589		88390397	-1	tier1	-	no_errors	ENST00000298699	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.970	T	T	88390397	G	T	88390397	3	4	110	1	0	0	0	0	1	0	0	0	1700	1232	43	3	964	3	C12orf50	12	88390397	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	6918267	88390397	45461498	172	29975											
CUX2	23316	genome.wustl.edu	37	chr12	111749974	111749974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaagagcattctagagcaGgccaagaaggagatcgagtc	15	6	12	8	1	2	4	1	0	1	4	4	6	2	4	1	2	2	2	1	2	4	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:111749974G>T	ENST00000261726.6	+	16	2125	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	657					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TTCTAGAGCAGGCCAAGAAGG	0.627																																																	0													71	78	76					12																	111749974		2045	4188	6233	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"Homeoboxes / CUT class"	19347	protein-coding gene	gene with protein product		610648	"cut-like 2 (Drosophila)"	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1971G>T	12.37:g.111749974G>T	ENSP00000261726:p.Gln657His		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.Q657H	ENST00000261726.6	37	c.1971	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	g	9.168	1.020519	0.19433	.	.	ENSG00000111249	ENST00000261726	T	0.56444	0.46	4.58	1.21	0.21127	.	0.058515	0.64402	D	0.000001	T	0.67896	0.2942	M	0.79926	2.475	0.42515	D	0.992984	D	0.89917	1.0	D	0.83275	0.996	T	0.67110	-0.5753	10	0.66056	D	0.02	-17.3279	7.3045	0.26440	0.5421:0.0:0.4579:0.0	.	657	O14529	CUX2_HUMAN	H	657	ENSP00000261726:Q657H	ENSP00000261726:Q657H	Q	+	3	2	CUX2	110234357	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	1.716000	0.37981	0.390000	0.25115	-0.768000	0.03414	CAG	CUX2	-	NULL	ENSG00000111249		0.627	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0	8	0	G	NM_015267		111749974	1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	55.56	8	10	SNP	1.000	T	T	111749974	G	T	111749974	3	4	110	1	0	0	0	0	1	0	0	0	4074	991	35	3	2033	3	CUX2	12	111749974	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	23359577	111749974	22101921	173	29976											
C12orf51	283450	genome.wustl.edu	37	chr12	112673435	112673435	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgggagctccacgttTccacagtcttctacgctcat	7	11	10	13	2	3	0	1	0	2	0	5	1	5	1	2	2	2	3	2	2	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:112673435T>A	ENST00000430131.2	-	35	5477	c.4332A>T	c.(4330-4332)ggA>ggT	p.G1444G	HECTD4_ENST00000550722.1_Silent_p.G1720G|HECTD4_ENST00000377560.5_Silent_p.G1694G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1444					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTCCACGTTTCCACAGTCTT	0.587																																																	0													49	52	51					12																	112673435		1966	4163	6129	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 51"	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4332A>T	12.37:g.112673435T>A			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.G1694	ENST00000430131.2	37	c.5082		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.587	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		-	0	27	0	T	NM_173813		112673435	-1	tier1	-	no_errors	ENST00000377560	ensembl	human	known	74_37	silent	44.74	21	17	SNP	0.086	A	A	112673435	T	A	112673435	2	1	110	1	0	0	0	0	0	0	0	1	1701	1770	62	5		5	C12orf51	12	112673435	Silent	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	923461	112673435	21178460	174	29977											
C12orf43	64897	genome.wustl.edu	37	chr12	121442237	121442237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgactcctgtaggatgtCggacgccgacacagctgcct	7	8	13	13	3	0	1	0	1	0	0	2	4	1	3	3	3	2	3	3	3	1	1	rs200371786		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:121442237C>A	ENST00000288757.3	-	6	530	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	C12orf43_ENST00000537817.1_Missense_Mutation_p.D171Y|C12orf43_ENST00000539736.1_Missense_Mutation_p.D160Y|C12orf43_ENST00000445832.3_Missense_Mutation_p.D140Y|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Missense_Mutation_p.D129Y	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	170										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTAGGATGTCGGACGCCGAC	0.577																																																	0													94	108	103					12																	121442237		2203	4300	6503	SO:0001583	missense	0			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.508G>T	12.37:g.121442237C>A	ENSP00000288757:p.Asp170Tyr		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.D170Y	ENST00000288757.3	37	c.508	CCDS9210.1	12	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461264	0.63513	.	.	ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000539736;ENST00000538296;ENST00000535367	T;T;T;T;T	0.61742	0.19;0.17;0.18;0.08;0.17	5.73	5.73	0.89815	.	0.137392	0.64402	D	0.000006	T	0.78566	0.4303	M	0.80847	2.515	0.50313	D	0.999867	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.78314	0.991;0.991;0.989;0.991;0.991	T	0.80587	-0.1316	10	0.87932	D	0	-15.1257	18.8906	0.92399	0.0:1.0:0.0:0.0	.	160;129;171;160;170	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57	.;.;.;.;CL043_HUMAN	Y	140;170;171;129;160;108;125	ENSP00000409788:D140Y;ENSP00000288757:D170Y;ENSP00000442224:D171Y;ENSP00000437803:D160Y;ENSP00000442041:D108Y	ENSP00000288757:D170Y	D	-	1	0	C12orf43	119926620	1.000000	0.71417	0.609000	0.28983	0.128000	0.20619	5.809000	0.69172	2.722000	0.93159	0.655000	0.94253	GAC	C12orf43	-	NULL	ENSG00000157895		0.577	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		-	0	50	0	C	NM_022895		121442237	-1	tier1	-	no_errors	ENST00000288757	ensembl	human	known	74_37	missense	53.33	21	24	SNP	0.997	A	A	121442237	C	A	121442237	3	1	110	1	0	0	0	0	1	0	0	0	1694	884	31	2	284	2	C12orf43	12	121442237	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	8768802	121442237	12409658	175	29978											
WDR66	144406	genome.wustl.edu	37	chr12	122437781	122437781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagagctttgaggtgctcGgttataccaactccaaaggg	12	9	11	9	1	0	2	0	1	0	1	2	2	1	2	2	3	4	3	2	3	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:122437781G>C	ENST00000288912.4	+	20	4020	c.3166G>C	c.(3166-3168)Ggt>Cgt	p.G1056R		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1056							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGGTGCTCGGTTATACCAA	0.448																																					Esophageal Squamous(85;849 1794 49757 52143)												0													103	96	98					12																	122437781		1892	4127	6019	SO:0001583	missense	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"WD repeat domain containing"	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3166G>C	12.37:g.122437781G>C	ENSP00000288912:p.Gly1056Arg		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G1056R	ENST00000288912.4	37	c.3166	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400105	0.62177	.	.	ENSG00000158023	ENST00000288912	T	0.06142	3.34	5.31	5.31	0.75309	.	0.055969	0.64402	D	0.000001	T	0.21186	0.0510	M	0.84433	2.695	0.80722	D	1	P	0.50156	0.932	P	0.49953	0.627	T	0.01643	-1.1305	10	0.72032	D	0.01	.	17.7641	0.88471	0.0:0.0:1.0:0.0	.	1056	Q8TBY9	WDR66_HUMAN	R	1056	ENSP00000288912:G1056R	ENSP00000288912:G1056R	G	+	1	0	WDR66	120922164	1.000000	0.71417	0.121000	0.21740	0.397000	0.30659	6.637000	0.74304	2.487000	0.83934	0.655000	0.94253	GGT	WDR66	-	NULL	ENSG00000158023		0.448	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0	24	0	G	NM_144668		122437781	1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	missense	53.12	15	17	SNP	0.897	C	C	122437781	G	C	122437781	3	2	110	1	0	0	0	0	1	0	0	0	17366	1116	39	5	3299	5	WDR66	12	122437781	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	995544	122437781	11414114	176	29979											
POLE	5426	genome.wustl.edu	37	chr12	133201572	133201572	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaccccgcggcacttCaggcagacctgaaagggagc	9	6	11	15	2	2	2	2	1	0	1	3	3	3	3	4	3	1	2	4	3	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr12:133201572C>A	ENST00000320574.5	-	48	6709	c.6666G>T	c.(6664-6666)ctG>ctT	p.L2222L	POLE_ENST00000535270.1_Silent_p.L2195L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2222					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.L2222L(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CGCGGCACTTCAGGCAGACCT	0.657								DNA polymerases (catalytic subunits)																																									2	Substitution - coding silent(2)	lung(2)											49	50	50					12																	133201572		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"DNA polymerases"	9177	protein-coding gene	gene with protein product	"DNA polymerase epsilon catalytic subunit A"	174762	"polymerase (DNA directed), epsilon"			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.6666G>T	12.37:g.133201572C>A			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.L2222	ENST00000320574.5	37	c.6666	CCDS9278.1	12																																																																																			POLE	-	NULL	ENSG00000177084		0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	-	0	30	0	C	NM_006231		133201572	-1	tier1	-	no_errors	ENST00000320574	ensembl	human	known	74_37	silent	51.72	14	15	SNP	0.236	A	A	133201572	C	A	133201572	2	1	110	1	0	0	0	0	0	0	0	1	12235	813	29	3		3	POLE	12	133201572	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	10763791	133201572	650323	177	29980											
RNF17	56163	genome.wustl.edu	37	chr13	25367319	25367319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctaaccagtgaagcaccaCcacctcctttgcaacctgag	11	8	6	16	0	0	2	0	2	0	0	2	2	2	2	7	0	4	2	7	0	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:25367319C>A	ENST00000255324.5	+	10	1127	c.1075C>A	c.(1075-1077)Cca>Aca	p.P359T	RNF17_ENST00000381921.1_Missense_Mutation_p.P359T|RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.P359T	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	359					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGAAGCACCACCACCTCCTTT	0.398																																																	0													188	175	179					13																	25367319		2203	4300	6503	SO:0001583	missense	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"RING-type (C3HC4) zinc fingers", "Tudor domain containing"	10060	protein-coding gene	gene with protein product	"spermatogenesis associated 23"	605793	"tudor domain containing 4"	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1075C>A	13.37:g.25367319C>A	ENSP00000255324:p.Pro359Thr		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.P359T	ENST00000255324.5	37	c.1075	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361640	0.01235	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.17054	3.58;3.58;2.3	4.0	0.293	0.15742	.	1.533890	0.03580	N	0.230039	T	0.09113	0.0225	N	0.14661	0.345	0.09310	N	1	B;B;B	0.28933	0.051;0.051;0.228	B;B;B	0.24394	0.016;0.016;0.053	T	0.26430	-1.0103	10	0.14656	T	0.56	3.4256	5.0916	0.14711	0.0:0.3554:0.4231:0.2215	.	359;359;359	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	T	359;359;218;360;359	ENSP00000255324:P359T;ENSP00000371346:P359T;ENSP00000255325:P360T	ENSP00000255324:P359T	P	+	1	0	RNF17	24265319	0.000000	0.05858	0.000000	0.03702	0.497000	0.33675	-0.582000	0.05814	0.010000	0.14839	-0.142000	0.14014	CCA	RNF17	-	NULL	ENSG00000132972		0.398	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	-	0	37	0	C	NM_031994		25367319	1	tier1	-	no_errors	ENST00000255324	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.000	A	A	25367319	C	A	25367319	3	1	110	1	0	0	0	0	1	0	0	0	13506	507	18	3	1113	3	RNF17	13	25367319	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		25367319	89802559	178	29981											
MTUS2	23281	genome.wustl.edu	37	chr13	30072650	30072650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatacacgagcaagaaaaGaagattcttgagctggaaaa	20	6	9	6	1	1	4	0	1	1	3	1	6	1	5	0	1	3	2	0	1	8	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:30072650G>C	ENST00000380808.2	+	7	927	c.711G>C	c.(709-711)aaG>aaC	p.K237N	MTUS2_ENST00000431530.3_Missense_Mutation_p.K1268N|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Missense_Mutation_p.K147N	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1258						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAGAAAAGAAGATTCTTG	0.433																																																	0													88	94	92					13																	30072650		1923	4128	6051	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.711G>C	13.37:g.30072650G>C	ENSP00000370186:p.Lys237Asn		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.K1268N	ENST00000380808.2	37	c.3804	CCDS41874.1	13	.	.	.	.	.	.	.	.	.	.	G	17.04	3.288070	0.59976	.	.	ENSG00000132938	ENST00000431530;ENST00000380808;ENST00000542829;ENST00000417109	T;T;T	0.79653	-1.29;-1.29;-1.29	5.16	3.43	0.39272	.	0.179827	0.47093	D	0.000242	D	0.85969	0.5821	M	0.64997	1.995	0.46317	D	0.998982	D;D	0.76494	0.999;0.999	D;D	0.72338	0.966;0.977	D	0.84316	0.0513	9	.	.	.	.	10.5014	0.44808	0.1562:0.0:0.8438:0.0	.	237;1258	Q5JR59-3;Q5JR59	.;MTUS2_HUMAN	N	1268;237;147;194	ENSP00000392057:K1268N;ENSP00000370186:K237N;ENSP00000445403:K147N	.	K	+	3	2	MTUS2	28970650	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	1.908000	0.39907	0.749000	0.32854	0.655000	0.94253	AAG	MTUS2	-	NULL	ENSG00000132938		0.433	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044335.2	-	0	10	0	G	XM_166270		30072650	1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	58.06	13	18	SNP	1.000	C	C	30072650	G	C	30072650	3	2	110	1	0	0	0	0	1	0	0	0	10004	933	33	5	3908	5	MTUS2	13	30072650	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4705331	30072650	85097228	179	29982											
FREM2	341640	genome.wustl.edu	37	chr13	39438592	39438592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataattggagagacatatcCttaccagtacagcttgtcca	14	11	7	9	0	0	1	0	0	0	1	2	3	2	2	3	1	3	2	3	1	5	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:39438592C>G	ENST00000280481.7	+	16	8048	c.7832C>G	c.(7831-7833)cCt>cGt	p.P2611R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2611					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGACATATCCTTACCAGTAC	0.443																																																	0													169	157	161					13																	39438592		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7832C>G	13.37:g.39438592C>G	ENSP00000280481:p.Pro2611Arg		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.P2611R	ENST00000280481.7	37	c.7832	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069222	0.55539	.	.	ENSG00000150893	ENST00000280481	T	0.26660	1.72	5.61	4.77	0.60923	.	0.122959	0.56097	N	0.000033	T	0.56396	0.1982	M	0.88842	2.985	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.71414	0.973;0.939	T	0.66280	-0.5963	10	0.87932	D	0	.	14.2681	0.66135	0.0:0.9285:0.0:0.0715	.	2611;2611	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	R	2611	ENSP00000280481:P2611R	ENSP00000280481:P2611R	P	+	2	0	FREM2	38336592	1.000000	0.71417	0.963000	0.40424	0.249000	0.25844	7.794000	0.85869	1.378000	0.46305	0.650000	0.86243	CCT	FREM2	-	NULL	ENSG00000150893		0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0	42	0	C	NM_207361		39438592	1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	38.46	40	25	SNP	1.000	G	G	39438592	C	G	39438592	3	3	110	1	0	0	0	0	1	0	0	0	6069	681	24	5	7894	5	FREM2	13	39438592	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	9365942	39438592	75731286	180	29983											
C13orf23	80209	genome.wustl.edu	37	chr13	39586248	39586248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatgctgactgcgcagccGcattatgctgtaattcttgc	9	12	9	11	2	1	1	0	1	1	0	1	1	1	1	1	0	5	5	1	0	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:39586248G>A	ENST00000352251.3	-	12	3517	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	PROSER1_ENST00000350125.3_Missense_Mutation_p.A873V|PROSER1_ENST00000484434.3_5'UTR	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	895																	CTGCGCAGCCGCATTATGCTG	0.453																																																	0													142	147	145					13																	39586248		2203	4300	6503	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 23"	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2684C>T	13.37:g.39586248G>A	ENSP00000332034:p.Ala895Val		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.A895V	ENST00000352251.3	37	c.2684	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873707	0.72180	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.39787	1.07;1.06	5.88	5.88	0.94601	.	.	.	.	.	T	0.50803	0.1637	N	0.19112	0.55	0.52099	D	0.999941	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.986	T	0.42732	-0.9434	8	.	.	.	-29.0992	18.8203	0.92094	0.0:0.0:1.0:0.0	.	873;895	A6NJ97;Q86XN7	.;PRSR1_HUMAN	V	895;873	ENSP00000332034:A895V;ENSP00000339123:A873V	.	A	-	2	0	PROSER1	38484248	1.000000	0.71417	0.956000	0.39512	0.030000	0.12068	7.759000	0.85235	2.782000	0.95742	0.655000	0.94253	GCG	PROSER1	-	NULL	ENSG00000120685		0.453	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0	28	0	G	NM_025138		39586248	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A	A	39586248	G	A	39586248	3	1	110	1	0	0	0	0	1	0	0	0	1726	1087	38	1	158	1	C13orf23	13	39586248	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	147656	39586248	75583630	181	29984											
LCP1	3936	genome.wustl.edu	37	chr13	46718648	46718648	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaatgtccgctcttctctCgtctcacctagatgaatgaa	10	13	6	12	2	3	3	1	2	3	1	7	3	4	3	2	0	0	1	2	0	5	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:46718648C>A	ENST00000398576.2	-	14	1570	c.1182G>T	c.(1180-1182)acG>acT	p.T394T	LCP1_ENST00000435666.2_5'Flank|LCP1_ENST00000323076.2_Silent_p.T394T			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	394	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GCTCTTCTCTCGTCTCACCTA	0.393			T	BCL6	NHL																																			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0													123	110	115					13																	46718648		2203	4300	6503	SO:0001819	synonymous_variant	0			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"EF-hand domain containing"	6528	protein-coding gene	gene with protein product	"plastin 2"	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1182G>T	13.37:g.46718648C>A			B2R613|B4DUA0|Q5TBN4	Silent	SNP	pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.T394	ENST00000398576.2	37	c.1182	CCDS9403.1	13																																																																																			LCP1	-	superfamily_CH-domain,pfscan_CH-domain	ENSG00000136167		0.393	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LCP1	HGNC	protein_coding	OTTHUMT00000044800.3	-	0	54	0	C	NM_002298		46718648	-1	tier1	-	no_errors	ENST00000323076	ensembl	human	known	74_37	silent	38.24	42	26	SNP	0.005	A	A	46718648	C	A	46718648	2	1	110	1	0	0	0	0	0	0	0	1	8719	871	31	2		2	LCP1	13	46718648	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	7132400	46718648	68451230	182	29985											
DACH1	1602	genome.wustl.edu	37	chr13	72131182	72131182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatgcatcctttttgacTcatgtcccatgtcatgaccg	9	14	6	12	1	2	2	2	2	0	0	4	2	4	2	3	0	1	1	3	0	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:72131182T>A	ENST00000359684.2	-	7	1705	c.1706A>T	c.(1705-1707)gAg>gTg	p.E569V	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000305425.4_Missense_Mutation_p.E517V			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	569					cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTTTTTGACTCATGTCCCAT	0.388																																																	0													164	148	153					13																	72131182		1881	4110	5991	SO:0001583	missense	0			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"dachshund homolog (Drosophila)", "dachshund homolog 1 (Drosophila)"	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1706A>T	13.37:g.72131182T>A	ENSP00000352712:p.Glu569Val		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Missense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.E569V	ENST00000359684.2	37	c.1706		13	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964306	0.74131	.	.	ENSG00000165659	ENST00000305425;ENST00000359684;ENST00000377826	T;T	0.34859	1.39;1.34	5.77	5.77	0.91146	.	0.468385	0.25875	N	0.027734	T	0.36524	0.0970	L	0.44542	1.39	0.80722	D	1	P	0.37276	0.589	B	0.39027	0.288	T	0.13845	-1.0494	10	0.48119	T	0.1	-0.6427	16.3818	0.83467	0.0:0.0:0.0:1.0	.	515	Q9UI36-2	.	V	517;569;569	ENSP00000304994:E517V;ENSP00000352712:E569V	ENSP00000304994:E517V	E	-	2	0	DACH1	71029183	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.655000	0.83696	2.330000	0.79161	0.528000	0.53228	GAG	DACH1	-	NULL	ENSG00000165659		0.388	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	DACH1	HGNC	protein_coding	OTTHUMT00000045240.1	-	0	30	0	T	NM_004392		72131182	-1	tier1	-	no_errors	ENST00000359684	ensembl	human	known	74_37	missense	90.91	2	20	SNP	1.000	A	A	72131182	T	A	72131182	3	1	110	1	0	0	0	0	1	0	0	0	4229	1551	54	5	600	5	DACH1	13	72131182	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	25412534	72131182	43038696	183	29986											
MYCBP2	23077	genome.wustl.edu	37	chr13	77673124	77673124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagaggctggtttagaaGatgttgagatgtttcctcga	10	14	13	4	1	0	4	0	1	0	4	2	6	1	4	1	2	0	5	1	2	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:77673124G>A	ENST00000544440.2	-	56	8068	c.8051C>T	c.(8050-8052)tCt>tTt	p.S2684F	MYCBP2_ENST00000407578.2_Missense_Mutation_p.S2722F|MYCBP2_ENST00000360084.5_Missense_Mutation_p.S207F|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.S2684F|MYCBP2_ENST00000482517.1_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGGTTTAGAAGATGTTGAGAT	0.388																																																	0													114	113	114					13																	77673124		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8051C>T	13.37:g.77673124G>A	ENSP00000444596:p.Ser2684Phe			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.S2722F	ENST00000544440.2	37	c.8165		13	.	.	.	.	.	.	.	.	.	.	G	2.864	-0.235417	0.05983	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440;ENST00000360084	T;T;T;T	0.47528	1.6;1.6;1.6;0.84	5.46	4.56	0.56223	.	0.374958	0.26696	N	0.022980	T	0.27524	0.0676	N	0.19112	0.55	0.23568	N	0.997392	P;B;B	0.44380	0.834;0.0;0.0	B;B;B	0.40285	0.325;0.001;0.0	T	0.14227	-1.0480	10	0.07990	T	0.79	.	9.2524	0.37562	0.076:0.1469:0.7771:0.0	.	70;2684;2684	Q9UG08;O75592-2;O75592	.;.;MYCB2_HUMAN	F	2684;2722;2684;207	ENSP00000349892:S2684F;ENSP00000384288:S2722F;ENSP00000444596:S2684F;ENSP00000353197:S207F	ENSP00000349892:S2684F	S	-	2	0	MYCBP2	76571125	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	5.228000	0.65310	2.570000	0.86706	0.563000	0.77884	TCT	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.388	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	-	0	70	0	G	NM_015057		77673124	-1	tier1	-	no_errors	ENST00000407578	ensembl	human	known	74_37	missense	70.73	11	29	SNP	0.531	A	A	77673124	G	A	77673124	3	1	110	1	0	0	0	0	1	0	0	0	10056	942	33	3	5983	3	MYCBP2	13	77673124	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	5541942	77673124	37496754	184	29987											
KDELC1	79070	genome.wustl.edu	37	chr13	103443452	103443452	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttcccagggaggaccCgtgttagcttgcacggacat	7	11	12	11	2	0	0	0	0	0	0	1	3	1	3	2	3	3	4	2	3	1	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:103443452C>A	ENST00000376004.4	-	6	1218	c.882G>T	c.(880-882)acG>acT	p.T294T	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	294						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAGGACCCGTGTTAGCTT	0.478																																																	0													76	79	78					13																	103443452		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.882G>T	13.37:g.103443452C>A			Q53HL3|Q9BVD2	Silent	SNP	pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like	p.T294	ENST00000376004.4	37	c.882	CCDS9504.1	13																																																																																			KDELC1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000134901		0.478	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDELC1	HGNC	protein_coding	OTTHUMT00000045699.1	-	0	19	0	C			103443452	-1	tier1	-	no_errors	ENST00000376004	ensembl	human	known	74_37	silent	82.35	3	14	SNP	0.192	A	A	103443452	C	A	103443452	2	1	110	1	0	0	0	0	0	0	0	1	8144	639	23	2		2	KDELC1	13	103443452	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	25770328	103443452	11726426	185	29988											
GRTP1	79774	genome.wustl.edu	37	chr13	114009757	114009757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatccagacgcgggcaCggtgctccagcgggacccct	7	4	13	17	4	0	1	0	0	0	1	2	2	2	2	5	3	2	3	5	3	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr13:114009757C>A	ENST00000375431.4	-	3	295	c.221G>T	c.(220-222)cGt>cTt	p.R74L	GRTP1_ENST00000326039.3_5'Flank|GRTP1-AS1_ENST00000419199.1_RNA|GRTP1-AS1_ENST00000423246.1_RNA|GRTP1_ENST00000375430.4_Missense_Mutation_p.R74L	NM_024719.2	NP_078995.2	Q5TC63	GRTP1_HUMAN	growth hormone regulated TBC protein 1	74	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GACGCGGGCACGGTGCTCCAG	0.667																																																	0													48	45	46					13																	114009757		2203	4300	6503	SO:0001583	missense	0			AK026127	CCDS9534.2, CCDS66591.1, CCDS73606.1	13q34	2011-11-30			ENSG00000139835	ENSG00000139835			20310	protein-coding gene	gene with protein product						11564724	Standard	NM_001286732		Approved	FLJ22474, TBC1D6	uc001vtn.3	Q5TC63	OTTHUMG00000017381	ENST00000375431.4:c.221G>T	13.37:g.114009757C>A	ENSP00000364580:p.Arg74Leu		B9A6K2|Q2M232|Q5TC64|Q66K26|Q6P659|Q8N528|Q9H695	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.R74L	ENST00000375431.4	37	c.221	CCDS9534.2	13	.	.	.	.	.	.	.	.	.	.	C	33	5.196815	0.94960	.	.	ENSG00000139835	ENST00000375431;ENST00000375430	T;T	0.33865	1.39;1.39	4.5	4.5	0.54988	Rab-GAP/TBC domain (4);	0.000000	0.85682	U	0.000000	T	0.75729	0.3889	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86605	0.1869	10	0.87932	D	0	.	16.1597	0.81693	0.0:1.0:0.0:0.0	.	74;74	B9A6K2;Q5TC63	.;GRTP1_HUMAN	L	74	ENSP00000364580:R74L;ENSP00000364579:R74L	ENSP00000364579:R74L	R	-	2	0	GRTP1	113057758	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.539000	0.73856	2.332000	0.79248	0.591000	0.81541	CGT	GRTP1	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000139835		0.667	GRTP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	GRTP1	HGNC	protein_coding	OTTHUMT00000045882.5	-	0	52	0	C	NM_024719		114009757	-1	tier1	-	no_errors	ENST00000375430	ensembl	human	known	74_37	missense	95.45	1	21	SNP	1.000	A	A	114009757	C	A	114009757	3	1	110	1	0	0	0	0	1	0	0	0	6837	536	19	2	813	2	GRTP1	13	114009757	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	10566305	114009757	1160121	186	29989											
METTL3	56339	genome.wustl.edu	37	chr14	21971933	21971933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaactgctgaagctgtGctgggcttagggccaccaga	9	8	14	10	0	1	2	1	1	0	1	1	3	1	3	2	3	4	4	2	3	3	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:21971933G>T	ENST00000298717.4	-	2	343	c.192C>A	c.(190-192)agC>agA	p.S64R	METTL3_ENST00000538267.1_Missense_Mutation_p.S64R	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	64					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTGAAGCTGTGCTGGGCTTAG	0.517																																																	0													156	147	150					14																	21971933		2203	4300	6503	SO:0001583	missense	0			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.192C>A	14.37:g.21971933G>T	ENSP00000298717:p.Ser64Arg		O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	pfam_MT-A70-like,pfscan_MT-A70-like	p.S64R	ENST00000298717.4	37	c.192	CCDS32044.1	14	.	.	.	.	.	.	.	.	.	.	G	12.69	2.015063	0.35511	.	.	ENSG00000165819	ENST00000298717;ENST00000538267;ENST00000440691	T;T	0.29142	1.58;1.58	5.49	-0.624	0.11552	.	0.000000	0.85682	D	0.000000	T	0.17023	0.0409	N	0.14661	0.345	0.48087	D	0.999585	P;P;B	0.47677	0.899;0.514;0.063	B;P;B	0.44518	0.367;0.452;0.016	T	0.04593	-1.0940	10	0.21540	T	0.41	-17.4594	10.3312	0.43823	0.5011:0.0:0.4989:0.0	.	64;64;64	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	R	64	ENSP00000298717:S64R;ENSP00000442316:S64R	ENSP00000298717:S64R	S	-	3	2	METTL3	21041773	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	0.681000	0.25320	-0.043000	0.13513	-0.140000	0.14226	AGC	METTL3	-	NULL	ENSG00000165819		0.517	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	HGNC	protein_coding	OTTHUMT00000401227.1		0	36	0	G	NM_019852		21971933	-1			no_errors	ENST00000298717	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.985	T	T	21971933	G	T	21971933	3	4	110	1	0	0	0	0	1	0	0	0	9539	1310	46	3	1590	3	METTL3	14	21971933	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09		21971933	85377607	187	29990											
FSCB	84075	genome.wustl.edu	37	chr14	44974273	44974273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttcagcgggggcctcctCagctggtggaggctgaactt	7	9	14	11	1	2	1	2	1	0	0	3	2	3	2	2	5	4	2	2	5	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:44974273C>G	ENST00000340446.4	-	1	2209	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	640	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGGGCCTCCTCAGCTGGTGGA	0.657																																																	0													1	1	1					14																	44974273		426	1062	1488	SO:0001583	missense	0			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"chromosome 14 open reading frame 155"	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1918G>C	14.37:g.44974273C>G	ENSP00000344579:p.Glu640Gln		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	NULL	p.E640Q	ENST00000340446.4	37	c.1918	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	C	10.18	1.278442	0.23307	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.17213	2.29	4.89	4.0	0.46444	.	.	.	.	.	T	0.33118	0.0852	L	0.57536	1.79	0.09310	N	1	D	0.67145	0.996	D	0.64410	0.925	T	0.07751	-1.0756	9	0.31617	T	0.26	3.3696	11.2185	0.48840	0.0:0.9101:0.0:0.0899	.	640	Q5H9T9	FSCB_HUMAN	Q	640;533	ENSP00000344579:E640Q	ENSP00000344579:E640Q	E	-	1	0	FSCB	44044023	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	-0.063000	0.11655	1.433000	0.47394	0.505000	0.49811	GAG	FSCB	-	NULL	ENSG00000189139		0.657	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1		0	53	0	C	NM_032135		44974273	-1			no_errors	ENST00000340446	ensembl	human	known	74_37	missense	20.34	47	12	SNP	0.006	G	G	44974273	C	G	44974273	3	3	110	1	0	0	0	0	1	0	0	0	6090	835	29	5	563	5	FSCB	14	44974273	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	23002340	44974273	62375267	188	29991											
RHOJ	57381	genome.wustl.edu	37	chr14	63757700	63757700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccccaagaaaaagaaGaaacgctgttctgagggtca	15	7	9	10	1	2	4	1	1	1	3	3	4	3	4	3	1	1	2	3	1	5	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:63757700G>T	ENST00000316754.3	+	5	1065	c.603G>T	c.(601-603)aaG>aaT	p.K201N		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	201					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K201N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGAAAAAGAAGAAACGCTGTT	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											118	113	115					14																	63757700		2203	4300	6503	SO:0001583	missense	0			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"RAS-like, family 7, member B", "ras homolog gene family, member J"	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.603G>T	14.37:g.63757700G>T	ENSP00000316729:p.Lys201Asn		Q96KC1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K201N	ENST00000316754.3	37	c.603	CCDS9757.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975900	0.74360	.	.	ENSG00000126785	ENST00000316754	T	0.69806	-0.43	5.73	3.89	0.44902	.	0.301618	0.29389	N	0.012294	T	0.71863	0.3390	L	0.52011	1.625	0.80722	D	1	D	0.53885	0.963	P	0.56648	0.803	T	0.74765	-0.3554	10	0.66056	D	0.02	.	12.7212	0.57144	0.1351:0.0:0.8649:0.0	.	201	Q9H4E5	RHOJ_HUMAN	N	201	ENSP00000316729:K201N	ENSP00000316729:K201N	K	+	3	2	RHOJ	62827453	1.000000	0.71417	0.987000	0.45799	0.758000	0.43043	2.815000	0.48018	1.429000	0.47314	0.561000	0.74099	AAG	RHOJ	-	superfamily_P-loop_NTPase	ENSG00000126785		0.488	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOJ	HGNC	protein_coding	OTTHUMT00000276975.3		0	29	0	G			63757700	1			no_errors	ENST00000316754	ensembl	human	known	74_37	missense	5.56	33	2	SNP	0.997	T	T	63757700	G	T	63757700	3	4	110	1	0	0	0	0	1	0	0	0	13386	933	33	3	621	3	RHOJ	14	63757700	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	18783427	63757700	43591840	189	29992											
SYNE2	23224	genome.wustl.edu	37	chr14	64421498	64421498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaatgggatggcttttttgGccatcattcatgccttgcga	8	14	11	8	1	2	0	2	0	0	0	2	3	2	1	2	3	2	1	2	3	1	5	rs370175849		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:64421498G>A	ENST00000344113.4	+	8	864	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	SYNE2_ENST00000554584.1_Missense_Mutation_p.A218T|SYNE2_ENST00000341472.5_Missense_Mutation_p.A218T|SYNE2_ENST00000358025.3_Missense_Mutation_p.A218T|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.A218T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	218	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTTTTTTGGCCATCATTCA	0.388																																																	0								G	THR/ALA,THR/ALA	1,3765		0,1,1882	160	139	145		652,652	3.8	0.8	14		145	0,8258		0,0,4129	no	missense,missense	SYNE2	NM_015180.4,NM_182914.2	58,58	0,1,6011	AA,AG,GG		0.0,0.0266,0.0083	probably-damaging,probably-damaging	218/6886,218/6908	64421498	1,12023	1883	4129	6012	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"nuclear envelope spectrin repeat-2", "nucleus and actin connecting element"	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.652G>A	14.37:g.64421498G>A	ENSP00000341781:p.Ala218Thr		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A218T	ENST00000344113.4	37	c.652	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663350	0.29515	2.66E-4	0.0	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	4.73	3.82	0.43975	Calponin homology domain (5);	0.127728	0.34411	N	0.003995	D	0.98235	0.9416	H	0.94385	3.53	0.80722	D	1	D;P;D	0.89917	0.962;0.952;1.0	P;P;D	0.87578	0.784;0.678;0.998	D	0.99110	1.0846	10	0.72032	D	0.01	.	14.4834	0.67599	0.0:0.0:0.8517:0.1483	.	218;218;218	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	T	218	ENSP00000350719:A218T;ENSP00000341781:A218T;ENSP00000344528:A218T;ENSP00000348382:A218T;ENSP00000452570:A218T	ENSP00000261678:A218T	A	+	1	0	SYNE2	63491251	1.000000	0.71417	0.818000	0.32626	0.001000	0.01503	4.459000	0.60102	1.095000	0.41419	-0.188000	0.12872	GCC	SYNE2	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000054654		0.388	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0	18	0	G	NM_182914		64421498	1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	missense	63.16	7	12	SNP	1.000	A	A	64421498	G	A	64421498	3	1	110	1	0	0	0	0	1	0	0	0	15493	1203	42	3	678	3	SYNE2	14	64421498	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	663798	64421498	42928042	190	29993											
FAM71D	161142	genome.wustl.edu	37	chr14	67675093	67675093	+	3'UTR	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaggcaaatacatccaagGagatgaaggataagacctct	16	7	11	7	0	1	4	0	2	1	2	2	6	2	5	2	3	1	1	2	3	5	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:67675093G>A	ENST00000556046.1	+	0	1628							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		TACATCCAAGGAGATGAAGGA	0.413																																																	0													88	82	84					14																	67675093		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 54"	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*1143G>A	14.37:g.67675093G>A			Q86VN4	Missense_Mutation	SNP	pfam_DUF3699	p.E363K	ENST00000556046.1	37	c.1087		14																																																																																			FAM71D	-	NULL	ENSG00000172717		0.413	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	FAM71D	HGNC	protein_coding	OTTHUMT00000412390.1	-	0	34	0	G	NM_173526		67675093	1	tier1	-	no_errors	ENST00000311864	ensembl	human	known	74_37	missense	42.50	23	17	SNP	0.003	A	A	67675093	G	A	67675093	1	1	110	0	1	0	0	0	0	0	0	0	5632	1175	41	3		3	FAM71D	14	67675093	3'UTR	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3253595	67675093	39674447	191	29994											
ARG2	384	genome.wustl.edu	37	chr14	68113432	68113432	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtattgtgtatattggtctGagagacgtggaccctcctga	9	13	12	7	1	1	3	0	2	1	1	2	5	2	4	2	2	0	2	2	2	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:68113432G>C	ENST00000261783.3	+	5	774	c.594G>C	c.(592-594)ctG>ctC	p.L198L	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	198					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	ATATTGGTCTGAGAGACGTGG	0.423																																																	0													194	180	184					14																	68113432		2203	4300	6503	SO:0001819	synonymous_variant	0			D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"arginase, type II"			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.594G>C	14.37:g.68113432G>C			B2R690|Q6FHY8	Silent	SNP	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	p.L198	ENST00000261783.3	37	c.594	CCDS9785.1	14																																																																																			ARG2	-	pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase	ENSG00000081181		0.423	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG2	HGNC	protein_coding	OTTHUMT00000415190.2	-	0	95	0	G	NM_001172		68113432	1	tier1	-	no_errors	ENST00000261783	ensembl	human	known	74_37	silent	43.53	48	37	SNP	0.988	C	C	68113432	G	C	68113432	2	2	110	1	0	0	0	0	0	0	0	1	858	1277	45	5		5	ARG2	14	68113432	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	438339	68113432	39236108	192	29995											
NRXN3	9369	genome.wustl.edu	37	chr14	80328302	80328302	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggacagggagtattacGtgtaaacatgcgaacactgc	15	7	11	8	2	0	0	0	0	0	0	0	3	0	2	0	2	5	2	0	2	6	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:80328302G>T	ENST00000557594.1	+	6	2862	c.1909G>T	c.(1909-1911)Gtg>Ttg	p.V637L	NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Missense_Mutation_p.V1061L|NRXN3_ENST00000335750.5_Missense_Mutation_p.V1061L|NRXN3_ENST00000281127.7_Missense_Mutation_p.V432L|NRXN3_ENST00000428277.2_Missense_Mutation_p.V459L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	637					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.V459M(1)|p.V1061M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGAGTATTACGTGTAAACATG	0.498																																																	2	Substitution - Missense(2)	prostate(2)											90	91	91					14																	80328302		2203	4300	6503	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1909G>T	14.37:g.80328302G>T	ENSP00000451672:p.Val637Leu		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.V1061L	ENST00000557594.1	37	c.3181		14	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910537	0.52439	.	.	ENSG00000021645	ENST00000330071;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.81247	-1.47;-1.47;-0.0;0.42;0.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	M	0.61703	1.905	0.42993	D	0.994494	D;D;D;B	0.76494	0.999;0.992;0.998;0.142	D;P;D;B	0.80764	0.993;0.882;0.994;0.076	D	0.86783	0.1980	9	.	.	.	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	459;432;637;1061	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	L	1643;1061;1061;637;432;459	ENSP00000451648:V1061L;ENSP00000338349:V1061L;ENSP00000451672:V637L;ENSP00000281127:V432L;ENSP00000394426:V459L	.	V	+	1	0	NRXN3	79398055	1.000000	0.71417	0.987000	0.45799	0.728000	0.41692	9.869000	0.99810	2.890000	0.99128	0.585000	0.79938	GTG	NRXN3	-	NULL	ENSG00000021645		0.498	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	HGNC	protein_coding	OTTHUMT00000413790.1	-	0	10	0	G	NM_001105250		80328302	1	tier1	-	no_errors	ENST00000335750	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	T	T	80328302	G	T	80328302	3	4	110	1	0	0	0	0	1	0	0	0	10706	1145	40	2	3593	2	NRXN3	14	80328302	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	12214870	80328302	27021238	193	29996											
SERPINA4	5267	genome.wustl.edu	37	chr14	95030234	95030234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgggctggaaacacgcGtgggcagtgctctgttcctg	6	9	15	11	2	1	0	0	0	1	0	2	1	2	1	2	3	2	4	2	3	1	1	rs539993882		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:95030234G>A	ENST00000557004.1	+	2	836	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	SERPINA4_ENST00000555095.1_Missense_Mutation_p.V139M|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V139M|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	139					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGAAACACGCGTGGGCAGTGC	0.557													G|||	1	0.000199681	0	0	5008	,	,		19729	0		0.001	False		,,,				2504	0																0													113	102	106					14																	95030234		2203	4300	6503	SO:0001583	missense	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"Serine (or cysteine) peptidase inhibitors"	8948	protein-coding gene	gene with protein product		147935	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.415G>A	14.37:g.95030234G>A	ENSP00000450838:p.Val139Met		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.V139M	ENST00000557004.1	37	c.415	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	G	6.399	0.441658	0.12164	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84223	-1.82;-1.82;-1.82	4.38	-3.1	0.05315	Serpin domain (3);	0.750429	0.11442	N	0.563675	T	0.56470	0.1987	N	0.03000	-0.44	0.24394	N	0.994731	B;B	0.32507	0.373;0.123	B;B	0.23150	0.044;0.036	T	0.54715	-0.8252	10	0.13853	T	0.58	.	6.853	0.24024	0.5656:0.1934:0.241:0.0	.	139;139	B2R815;P29622	.;KAIN_HUMAN	M	139	ENSP00000450838:V139M;ENSP00000451172:V139M;ENSP00000298841:V139M	ENSP00000298841:V139M	V	+	1	0	SERPINA4	94099987	0.000000	0.05858	0.060000	0.19600	0.031000	0.12232	-0.933000	0.03959	-0.303000	0.08856	-0.244000	0.11960	GTG	SERPINA4	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000100665		0.557	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	-	0	35	0	G	NM_006215		95030234	1	tier1	-	no_errors	ENST00000298841	ensembl	human	known	74_37	missense	41.07	33	23	SNP	0.016	A	A	95030234	G	A	95030234	3	1	110	1	0	0	0	0	1	0	0	0	14136	1145	40	1	417	1	SERPINA4	14	95030234	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	14701932	95030234	12319306	194	29997											
CDC42BPB	9578	genome.wustl.edu	37	chr14	103435036	103435036	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctaaggtggcacccgctccCcggcctccttgcttcacctg	4	10	9	18	2	2	0	1	0	1	0	4	0	4	0	6	3	1	3	6	3	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr14:103435036C>A	ENST00000361246.2	-	15	2301	c.2013G>T	c.(2011-2013)cgG>cgT	p.R671R		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CACCCGCTCCCCGGCCTCCTT	0.473																																																	0													63	71	68					14																	103435036		2200	4298	6498	SO:0001819	synonymous_variant	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"CDC42-binding protein kinase beta (DMPK-like)"			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.2013G>T	14.37:g.103435036C>A				Silent	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R671	ENST00000361246.2	37	c.2013	CCDS9978.1	14																																																																																			CDC42BPB	-	NULL	ENSG00000198752		0.473	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	-	0	14	0	C	NM_006035		103435036	-1	tier1	-	no_errors	ENST00000361246	ensembl	human	known	74_37	silent	39.13	14	9	SNP	0.290	A	A	103435036	C	A	103435036	2	1	110	1	0	0	0	0	0	0	0	1	3080	610	22	3		3	CDC42BPB	14	103435036	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	8404802	103435036	3914504	195	29998											
MKRN3	7681	genome.wustl.edu	37	chr15	23811871	23811871	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaggtgtgtggcatctgCatggaggttgtctatgagaa	10	11	15	5	0	2	1	0	1	2	1	2	4	2	2	0	4	1	3	0	4	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:23811871C>A	ENST00000314520.3	+	1	1418	c.942C>A	c.(940-942)tgC>tgA	p.C314*	MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	314					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGCATCTGCATGGAGGTTG	0.498																																																	0													119	101	107					15																	23811871		2203	4300	6503	SO:0001587	stop_gained	0			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"RING-type (C3HC4) zinc fingers"	7114	protein-coding gene	gene with protein product	"zinc finger protein 127"	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.942C>A	15.37:g.23811871C>A	ENSP00000313881:p.Cys314*			Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.C314*	ENST00000314520.3	37	c.942	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	C	41	8.815878	0.98964	.	.	ENSG00000179455	ENST00000314520	.	.	.	4.07	3.16	0.36331	.	0.101223	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.177	0.42943	0.0:0.9012:0.0:0.0988	.	.	.	.	X	314	.	ENSP00000313881:C314X	C	+	3	2	MKRN3	21362964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.670000	0.37502	1.314000	0.45095	-0.140000	0.14226	TGC	MKRN3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000179455		0.498	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	-	0	32	0	C	NM_005664		23811871	1	tier1	-	no_errors	ENST00000314520	ensembl	human	known	74_37	nonsense	57.50	17	23	SNP	1.000	A	A	23811871	C	A	23811871	4	1	110	1	0	0	0	0	0	1	0	0	9646	718	25	3	944	3	MKRN3	15	23811871	Nonsense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		23811871	78719521	196	29999											
MAGEL2	54551	genome.wustl.edu	37	chr15	23889959	23889959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcagagagacccagggcCctggaggtgctcgggccctc	6	7	14	14	1	1	2	1	0	0	2	3	4	1	3	3	4	1	1	3	4	0	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:23889959C>T	ENST00000532292.1	-	1	1216	c.1122G>A	c.(1120-1122)agG>agA	p.R374R		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	257	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GACCCAGGGCCCTGGAGGTGC	0.647																																																	0													22	23	23					15																	23889959		1859	4099	5958	SO:0001819	synonymous_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1122G>A	15.37:g.23889959C>T				Silent	SNP	pfam_MAGE,pfscan_MAGE	p.R374	ENST00000532292.1	37	c.1122		15	.	.	.	.	.	.	.	.	.	.	C	0.524	-0.860758	0.02610	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.94	2.07	0.26955	.	.	.	.	.	T	0.31544	0.0800	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20571	-1.0271	4	.	.	.	.	6.1354	0.20230	0.0:0.7729:0.0:0.2271	.	.	.	.	E	406	.	.	G	-	2	0	MAGEL2	21441052	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	0.478000	0.22212	0.635000	0.30488	0.655000	0.94253	GGG	MAGEL2	-	NULL	ENSG00000254585		0.647	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	-	0	12	0	C	NM_019066		23889959	-1	tier1	-	no_errors	ENST00000532292	ensembl	human	known	74_37	silent	35.71	9	5	SNP	0.001	T	T	23889959	C	T	23889959	2	4	110	1	0	0	0	0	0	0	0	1	9227	622	22	3		3	MAGEL2	15	23889959	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	78088	23889959	78641433	197	30000											
C15orf2	23742	genome.wustl.edu	37	chr15	24922115	24922115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgagggagacctacaCaccttggagaagagccctga	11	8	12	10	0	1	5	0	2	1	3	1	7	1	5	3	2	2	1	3	2	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:24922115C>A	ENST00000329468.2	+	1	1575	c.1101C>A	c.(1099-1101)caC>caA	p.H367Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	367	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GAGACCTACACACCTTGGAGA	0.547																																																	0													55	50	52					15																	24922115		2203	4300	6503	SO:0001583	missense	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"chromosome 15 open reading frame 2"	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1101C>A	15.37:g.24922115C>A	ENSP00000333735:p.His367Gln			Missense_Mutation	SNP	NULL	p.H367Q	ENST00000329468.2	37	c.1101	CCDS10015.1	15	.	.	.	.	.	.	.	.	.	.	.	6.375	0.437347	0.12104	.	.	ENSG00000185823	ENST00000329468	T	0.05649	3.41	2.07	-0.0477	0.13842	.	2.384450	0.01806	N	0.033179	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B	0.33940	0.433	B	0.25405	0.06	T	0.31833	-0.9929	10	0.10377	T	0.69	.	2.3769	0.04344	0.3244:0.4861:0.0:0.1894	.	367	Q9NZP6	CO002_HUMAN	Q	367	ENSP00000333735:H367Q	ENSP00000333735:H367Q	H	+	3	2	C15orf2	22473208	0.002000	0.14202	0.000000	0.03702	0.019000	0.09904	0.128000	0.15810	-0.002000	0.14469	0.491000	0.48974	CAC	NPAP1	-	NULL	ENSG00000185823		0.547	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1	-	0	18	0	C	NM_018958		24922115	1	tier1	-	no_errors	ENST00000329468	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.000	A	A	24922115	C	A	24922115	3	1	110	1	0	0	0	0	1	0	0	0	1789	477	17	3	1103	3	C15orf2	15	24922115	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	1032156	24922115	77609277	198	30001											
FMN1	342184	genome.wustl.edu	37	chr15	33261476	33261476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggcttgaggaaggtctctCtgtctgtctggacgcacaca	8	10	13	10	1	4	1	0	1	4	0	5	3	4	3	0	4	0	2	0	4	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:33261476C>T	ENST00000559047.1	-	5	2425	c.2426G>A	c.(2425-2427)aGa>aAa	p.R809K	SNORD77_ENST00000391113.1_RNA|FMN1_ENST00000334528.9_Missense_Mutation_p.R586K|FMN1_ENST00000561249.1_Missense_Mutation_p.R711K			Q68DA7	FMN1_HUMAN	formin 1	809	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAAGGTCTCTCTGTCTGTCTG	0.468																																																	0													424	391	401					15																	33261476		1998	4168	6166	SO:0001583	missense	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"limb deformity protein"	136535	"formin (limb deformity)"	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2426G>A	15.37:g.33261476C>T	ENSP00000454047:p.Arg809Lys		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.R586K	ENST00000559047.1	37	c.1757		15	.	.	.	.	.	.	.	.	.	.	c	17.14	3.313922	0.60414	.	.	ENSG00000248905	ENST00000334528	T	0.50813	0.73	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	L	0.55834	1.745	.	.	.	D	0.76494	0.999	D	0.69142	0.962	T	0.69101	-0.5234	9	0.62326	D	0.03	.	17.6138	0.88063	0.0:1.0:0.0:0.0	.	586	Q68DA7-5	.	K	586	ENSP00000333950:R586K	ENSP00000333950:R586K	R	-	2	0	FMN1	31048768	1.000000	0.71417	0.999000	0.59377	0.838000	0.47535	5.869000	0.69613	2.390000	0.81377	0.550000	0.68814	AGA	FMN1	-	prints_Formin_Cappuccino_subfam	ENSG00000248905		0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	-	0	68	0	C	NM_001103184		33261476	-1	tier1	-	no_errors	ENST00000334528	ensembl	human	known	74_37	missense	41.77	46	33	SNP	1.000	T	T	33261476	C	T	33261476	3	4	110	1	0	0	0	0	1	0	0	0	5971	913	32	3	1889	3	FMN1	15	33261476	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	8339361	33261476	69269916	199	30002											
EXD1	161829	genome.wustl.edu	37	chr15	41476502	41476502	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggaggtagatgttgaggaTttgtagcttgtttattcaaa	10	16	13	2	0	1	2	1	1	0	1	1	4	1	4	0	3	1	5	0	3	4	8			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:41476502T>G	ENST00000314992.5	-	10	1362	c.1172A>C	c.(1171-1173)aAt>aCt	p.N391T	EXD1_ENST00000458580.2_Missense_Mutation_p.N449T	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	391							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATGTTGAGGATTTGTAGCTTG	0.388																																																	0													139	142	141					15																	41476502		2203	4300	6503	SO:0001583	missense	0			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1172A>C	15.37:g.41476502T>G	ENSP00000321029:p.Asn391Thr		A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.N391T	ENST00000314992.5	37	c.1172	CCDS10072.1	15	.	.	.	.	.	.	.	.	.	.	T	8.180	0.793681	0.16327	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.43688	0.94;0.95	5.35	1.65	0.23941	.	1.070270	0.07204	N	0.858014	T	0.22085	0.0532	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23013	-1.0200	10	0.32370	T	0.25	-17.0419	5.4418	0.16513	0.0:0.1571:0.1476:0.6954	.	449;391;189	B7Z839;Q8NHP7;Q8NHP7-2	.;EXD1_HUMAN;.	T	391;449	ENSP00000321029:N391T;ENSP00000415056:N449T	ENSP00000321029:N391T	N	-	2	0	EXD1	39263794	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.064000	0.14437	0.172000	0.19760	-0.313000	0.08912	AAT	EXD1	-	NULL	ENSG00000178997		0.388	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	HGNC	protein_coding	OTTHUMT00000252553.2	-	0	51	0	T	NM_152596		41476502	-1	tier1	-	no_errors	ENST00000314992	ensembl	human	known	74_37	missense	38.71	38	24	SNP	0.001	G	G	41476502	T	G	41476502	3	3	110	1	0	0	0	0	1	0	0	0	5313	1493	52	4	376	4	EXD1	15	41476502	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	8215026	41476502	61054890	200	30003											
ATP8B4	79895	genome.wustl.edu	37	chr15	50168486	50168486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgttacctgcacactgaCcacaatgaccaaagatgtgg	13	7	9	12	1	0	3	0	2	0	1	0	3	0	3	3	1	3	2	3	1	3	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:50168486C>A	ENST00000284509.6	-	25	3157	c.3016G>T	c.(3016-3018)Gtc>Ttc	p.V1006F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.V1006F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1006						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCACACTGACCACAATGACC	0.458																																																	0													117	98	104					15																	50168486		2196	4295	6491	SO:0001583	missense	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"ATPases / P-type"	13536	protein-coding gene	gene with protein product		609123	"ATPase, Class I, type 8B, member 4"			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3016G>T	15.37:g.50168486C>A	ENSP00000284509:p.Val1006Phe		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V1006F	ENST00000284509.6	37	c.3016	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720165	0.89205	.	.	ENSG00000104043	ENST00000284509	T	0.55413	0.52	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.80544	0.4643	H	0.94264	3.515	0.80722	D	1	B;D	0.69078	0.145;0.997	B;D	0.71414	0.101;0.973	D	0.85408	0.1135	10	0.87932	D	0	.	17.6957	0.88281	0.0:1.0:0.0:0.0	.	84;1006	Q6PG43;Q8TF62	.;AT8B4_HUMAN	F	1006	ENSP00000284509:V1006F	ENSP00000284509:V1006F	V	-	1	0	ATP8B4	47955778	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.776000	0.95493	0.655000	0.94253	GTC	ATP8B4	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000104043		0.458	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	-	0	33	0	C	NM_024837		50168486	-1	tier1	-	no_errors	ENST00000284509	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	A	A	50168486	C	A	50168486	3	1	110	1	0	0	0	0	1	0	0	0	1198	507	18	3	578	3	ATP8B4	15	50168486	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	8691984	50168486	52362906	201	30004											
FAM81A	145773	genome.wustl.edu	37	chr15	59808891	59808891	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcagccagatgtcagcCaggcttgacaaaatagaaga	16	6	10	9	0	2	4	2	1	0	3	2	4	2	4	2	1	3	2	2	1	5	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:59808891C>A	ENST00000288228.5	+	8	1021	c.834C>A	c.(832-834)gcC>gcA	p.A278A		NM_152450.2	NP_689663.2	Q8TBF8	FA81A_HUMAN	family with sequence similarity 81, member A	278										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						AGATGTCAGCCAGGCTTGACA	0.453																																																	0													93	89	90					15																	59808891		1909	4127	6036	SO:0001819	synonymous_variant	0				CCDS45269.1	15q22.2	2012-10-02			ENSG00000157470	ENSG00000157470			28379	protein-coding gene	gene with protein product							Standard	NM_152450		Approved	MGC26690	uc002agc.2	Q8TBF8	OTTHUMG00000171915	ENST00000288228.5:c.834C>A	15.37:g.59808891C>A				Silent	SNP	superfamily_Ferritin-like_SF	p.A278	ENST00000288228.5	37	c.834	CCDS45269.1	15																																																																																			FAM81A	-	superfamily_Ferritin-like_SF	ENSG00000157470		0.453	FAM81A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM81A	HGNC	protein_coding	OTTHUMT00000415876.1	-	0	19	0	C	NM_152450		59808891	1	tier1	-	no_errors	ENST00000288228	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.968	A	A	59808891	C	A	59808891	2	1	110	1	0	0	0	0	0	0	0	1	5650	581	21	3		3	FAM81A	15	59808891	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	9640405	59808891	42722501	202	30005											
AGBL1	123624	genome.wustl.edu	37	chr15	86791012	86791012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctacgtgcagatccgacggGgcttgctgctctgcctcagg	5	9	13	14	3	2	1	1	0	1	1	3	2	3	1	3	3	5	4	3	3	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:86791012G>T	ENST00000441037.2	+	6	594	c.499G>T	c.(499-501)Ggc>Tgc	p.G167C	AGBL1_ENST00000421325.2_Missense_Mutation_p.G167C	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	167					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GATCCGACGGGGCTTGCTGCT	0.652																																																	0													42	43	43					15																	86791012		2153	4262	6415	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.499G>T	15.37:g.86791012G>T	ENSP00000413001:p.Gly167Cys		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.G167C	ENST00000441037.2	37	c.499	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634720	0.47049	.	.	ENSG00000166748	ENST00000441037;ENST00000421325	T	0.56776	0.44	5.16	3.06	0.35304	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.57799	0.2078	M	0.65975	2.015	0.58432	D	0.999994	D	0.58620	0.983	P	0.51487	0.671	T	0.61903	-0.6967	9	0.87932	D	0	-0.5476	9.273	0.37684	0.0844:0.0:0.7622:0.1534	.	167	Q96MI9	CBPC4_HUMAN	C	196;167	ENSP00000397173:G167C	ENSP00000397173:G167C	G	+	1	0	AGBL1	84592016	1.000000	0.71417	0.629000	0.29254	0.264000	0.26372	4.894000	0.63206	1.162000	0.42619	0.561000	0.74099	GGC	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.652	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0	38	0	G	NM_152336		86791012	1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	46.15	21	18	SNP	0.775	T	T	86791012	G	T	86791012	3	4	110	1	0	0	0	0	1	0	0	0	375	1232	43	3	517	3	AGBL1	15	86791012	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	26982121	86791012	15740380	203	30006											
AEN	64782	genome.wustl.edu	37	chr15	89169568	89169568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcggttcatggcccGgaaggccttgctgcaggagc	7	6	15	13	2	1	0	1	0	0	0	1	2	1	2	3	5	4	4	3	5	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:89169568G>T	ENST00000332810.3	+	2	279	c.128G>T	c.(127-129)cGg>cTg	p.R43L	AEN_ENST00000379231.3_Missense_Mutation_p.R43L	NM_022767.3	NP_073604.3	Q8WTP8	AEN_HUMAN	apoptosis enhancing nuclease	43					intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTCATGGCCCGGAAGGCCTTG	0.627																																																	0													30	26	27					15																	89169568		2200	4299	6499	SO:0001583	missense	0			BC020988	CCDS10344.1	15q26.1	2008-07-15	2008-07-15	2008-07-15	ENSG00000181026	ENSG00000181026			25722	protein-coding gene	gene with protein product		610177	"interferon stimulated exonuclease gene 20kDa-like 1"	ISG20L1		18264133, 16171785	Standard	NM_022767		Approved	FLJ12484, FLJ12562	uc002bmt.2	Q8WTP8	OTTHUMG00000148681	ENST00000332810.3:c.128G>T	15.37:g.89169568G>T	ENSP00000331944:p.Arg43Leu		C9J571|Q9BSA5|Q9H9X7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.R43L	ENST00000332810.3	37	c.128	CCDS10344.1	15	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137963	0.56936	.	.	ENSG00000181026	ENST00000332810;ENST00000379231	T;T	0.19105	2.18;2.17	5.02	2.76	0.32466	.	1.455730	0.04705	N	0.416534	T	0.31327	0.0793	L	0.34521	1.04	0.35695	D	0.815139	D;D	0.56746	0.977;0.961	P;P	0.55303	0.773;0.597	T	0.15350	-1.0440	10	0.46703	T	0.11	-13.8169	11.5712	0.50834	0.1715:0.0:0.8285:0.0	.	43;43	Q8WTP8-2;Q8WTP8	.;AEN_HUMAN	L	43	ENSP00000331944:R43L;ENSP00000368533:R43L	ENSP00000331944:R43L	R	+	2	0	AEN	86970572	0.941000	0.31946	0.999000	0.59377	0.915000	0.54546	1.517000	0.35867	1.104000	0.41587	0.563000	0.77884	CGG	AEN	-	NULL	ENSG00000181026		0.627	AEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEN	HGNC	protein_coding	OTTHUMT00000309071.1	-	0	36	0	G	NM_022767		89169568	1	tier1	-	no_errors	ENST00000379231	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.953	T	T	89169568	G	T	89169568	3	4	110	1	0	0	0	0	1	0	0	0	351	1116	39	2	130	2	AEN	15	89169568	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2378556	89169568	13361824	204	30007											
FES	2242	genome.wustl.edu	37	chr15	91434332	91434332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcactctggggacttcCtggtgcgggagagccagggc	5	8	18	10	1	1	1	0	0	1	1	2	3	2	2	2	6	3	1	2	6	0	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr15:91434332C>T	ENST00000328850.3	+	11	1583	c.1441C>T	c.(1441-1443)Ctg>Ttg	p.L481L	FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Intron|FES_ENST00000394300.3_Silent_p.L423L|FES_ENST00000414248.2_Intron|FES_ENST00000394302.1_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	481	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGGGGACTTCCTGGTGCGGGA	0.642																																																	0													100	75	84					15																	91434332		2195	4294	6489	SO:0001819	synonymous_variant	0			X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"SH2 domain containing"	3657	protein-coding gene	gene with protein product	"Oncogene FES, feline sarcoma virus", "c-fes/fps protein"	190030	"feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog", "feline sarcoma oncogene"			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1441C>T	15.37:g.91434332C>T			B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.L481	ENST00000328850.3	37	c.1441	CCDS10365.1	15																																																																																			FES	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2	ENSG00000182511		0.642	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FES	HGNC	protein_coding	OTTHUMT00000313497.1	-	0	41	0	C	NM_002005		91434332	1	tier1	-	no_errors	ENST00000328850	ensembl	human	known	74_37	silent	41.51	31	22	SNP	1.000	T	T	91434332	C	T	91434332	2	4	110	1	0	0	0	0	0	0	0	1	5842	680	24	3		3	FES	15	91434332	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2264764	91434332	11097060	205	30008											
RHBDF1	64285	genome.wustl.edu	37	chr16	109825	109825	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtttttggtgcagatCtgggtcacaaatgaggacga	9	11	14	7	2	2	2	1	1	1	1	2	4	2	3	0	3	1	3	0	3	1	2	rs376515962		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:109825C>A	ENST00000262316.6	-	14	1865		c.e14-1			NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)						cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGGTGCAGATCTGGGTCACAA	0.582																																																	0													156	120	132					16																	109825		2203	4300	6503	SO:0001630	splice_region_variant	0			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1723-1G>T	16.37:g.109825C>A			Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Splice_Site	SNP	-	e13-1	ENST00000262316.6	37	c.1723-1	CCDS32344.1	16	.	.	.	.	.	.	.	.	.	.	c	16.63	3.176211	0.57692	.	.	ENSG00000007384	ENST00000262316	.	.	.	5.37	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1387	0.72590	0.0:0.8582:0.1418:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHBDF1	49825	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.755000	0.85180	1.254000	0.44035	0.650000	0.86243	.	RHBDF1	-	-	ENSG00000007384		0.582	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	-	0	31	0	C	NM_022450	Intron	109825	-1	tier1	-	no_errors	ENST00000262316	ensembl	human	known	74_37	splice_site	43.90	23	18	SNP	1.000	A	A	109825	C	A	109825	5	1	110	1	0	0	0	0	0	0	1	0	13364	927	32	3	865	3	RHBDF1	16	109825	Splice_Site	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		109825	90244928	206	30009											
RHBDF1	64285	genome.wustl.edu	37	chr16	112579	112579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgcggtccagggcccCgccggtgaggtccgcctgct	2	7	15	17	5	0	1	0	1	0	0	3	1	2	1	6	4	2	2	6	4	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:112579C>G	ENST00000262316.6	-	7	1052	c.910G>C	c.(910-912)Ggg>Cgg	p.G304R	RHBDF1_ENST00000454039.2_Missense_Mutation_p.G304R	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	304					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCAGGGCCCCGCCGGTGAGG	0.657																																																	0													85	99	94					16																	112579		2203	4300	6503	SO:0001583	missense	0			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"chromosome 16 open reading frame 8", "rhomboid family 1 (Drosophila)"	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.910G>C	16.37:g.112579C>G	ENSP00000262316:p.Gly304Arg		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.G304R	ENST00000262316.6	37	c.910	CCDS32344.1	16	.	.	.	.	.	.	.	.	.	.	.	13.52	2.260983	0.39995	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.64618	-0.11;-0.11	4.77	3.8	0.43715	.	0.286793	0.39407	N	0.001369	T	0.56746	0.2006	N	0.14661	0.345	0.31312	N	0.68709	D;D;P	0.89917	0.999;1.0;0.512	D;D;B	0.75020	0.948;0.985;0.425	T	0.55405	-0.8146	10	0.16420	T	0.52	-27.7592	7.3238	0.26542	0.1694:0.7461:0.0:0.0845	.	304;327;304	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	R	304	ENSP00000262316:G304R;ENSP00000392133:G304R	ENSP00000262316:G304R	G	-	1	0	RHBDF1	52579	1.000000	0.71417	0.212000	0.23672	0.454000	0.32378	4.120000	0.57897	1.201000	0.43203	0.462000	0.41574	GGG	RHBDF1	-	pfam_Rhomboid_SP	ENSG00000007384		0.657	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	-	0	50	0	C	NM_022450		112579	-1	tier1	-	no_errors	ENST00000262316	ensembl	human	known	74_37	missense	55.36	25	31	SNP	0.811	G	G	112579	C	G	112579	3	3	110	1	0	0	0	0	1	0	0	0	13364	652	23	5	1705	5	RHBDF1	16	112579	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2754	112579	90242174	207	30010											
ZNF200	7752	genome.wustl.edu	37	chr16	3283513	3283513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgcttctcacctctgttCtgaaggcttgagctcacatc	7	14	8	12	0	4	2	2	2	3	0	6	2	4	2	1	1	2	4	1	1	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:3283513C>T	ENST00000431561.3	-	2	855	c.243G>A	c.(241-243)caG>caA	p.Q81Q	ZNF200_ENST00000396868.3_Silent_p.Q81Q|ZNF200_ENST00000396871.4_Silent_p.Q81Q|ZNF200_ENST00000396870.4_Silent_p.Q81Q|ZNF200_ENST00000414144.2_Silent_p.Q81Q|ZNF200_ENST00000575948.1_Silent_p.Q81Q	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CACCTCTGTTCTGAAGGCTTG	0.453																																																	0													88	93	92					16																	3283513		2197	4300	6497	SO:0001819	synonymous_variant	0			AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"Zinc fingers, C2H2-type"	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.243G>A	16.37:g.3283513C>T			D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q81	ENST00000431561.3	37	c.243	CCDS10497.1	16																																																																																			ZNF200	-	NULL	ENSG00000010539		0.453	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF200	HGNC	protein_coding	OTTHUMT00000437545.1		0	46	0	C			3283513	-1			no_errors	ENST00000414144	ensembl	human	known	74_37	silent	6.00	47	3	SNP	0.962	T	T	3283513	C	T	3283513	2	4	110	1	0	0	0	0	0	0	0	1	17810	912	32	3		3	ZNF200	16	3283513	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	3170934	3283513	87071240	208	30011											
ZNF500	26048	genome.wustl.edu	37	chr16	4803036	4803036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctccctgccatcaccgcCgtcctccaactggatcccag	7	8	6	20	2	1	0	1	0	0	0	6	1	6	1	8	1	2	0	8	1	1	0	rs142409847		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:4803036C>A	ENST00000219478.6	-	6	1083	c.784G>T	c.(784-786)Ggc>Tgc	p.G262C	RP11-127I20.7_ENST00000588099.1_RNA|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262C|ZNF500_ENST00000591026.1_5'UTR			O60304	ZN500_HUMAN	zinc finger protein 500	262					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCATCACCGCCGTCCTCCAAC	0.587																																																	0													39	46	43					16																	4803036		2191	4292	6483	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"Zinc fingers, C2H2-type", "-", "-", "-"	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.784G>T	16.37:g.4803036C>A	ENSP00000219478:p.Gly262Cys		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G262C	ENST00000219478.6	37	c.784	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162661	0.38217	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07114	3.31;3.22	4.04	3.08	0.35506	Krueppel-associated box (1);	.	.	.	.	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B;B	0.30326	0.276;0.276	B;B	0.26517	0.07;0.07	T	0.36480	-0.9746	9	0.59425	D	0.04	.	9.1061	0.36698	0.0:0.8891:0.0:0.1109	.	262;262	B4DNN9;O60304	.;ZN500_HUMAN	C	262	ENSP00000445714:G262C;ENSP00000219478:G262C	ENSP00000219478:G262C	G	-	1	0	ZNF500	4743037	0.001000	0.12720	0.048000	0.18961	0.011000	0.07611	1.284000	0.33249	0.694000	0.31654	0.655000	0.94253	GGC	ZNF500	-	NULL	ENSG00000103199		0.587	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	-	0	37	0	C	XM_085507		4803036	-1	tier1	-	no_errors	ENST00000219478	ensembl	human	known	74_37	missense	57.78	19	26	SNP	0.000	A	A	4803036	C	A	4803036	3	1	110	1	0	0	0	0	1	0	0	0	17996	652	23	2	662	2	ZNF500	16	4803036	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	1519523	4803036	85551717	209	30012											
ABCC6	368	genome.wustl.edu	37	chr16	16276745	16276745	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgcccccactggaccGacaacagccagcagacagcc	10	4	8	19	1	0	1	0	0	0	1	1	3	1	2	6	1	5	1	6	1	1	1	rs74315130		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:16276745G>T	ENST00000205557.7	-	16	2015	c.1986C>A	c.(1984-1986)gtC>gtA	p.V662V	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	662	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	CCACTGGACCGACAACAGCCA	0.632																																																	0													80	75	77					16																	16276745		2197	4300	6497	SO:0001819	synonymous_variant	0			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"ATP binding cassette transporters / subfamily C"	57	protein-coding gene	gene with protein product		603234	"pseudoxanthoma elasticum"	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.1986C>A	16.37:g.16276745G>T			A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.V662	ENST00000205557.7	37	c.1986	CCDS10568.1	16																																																																																			ABCC6	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc	ENSG00000091262		0.632	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	-	0	45	0	G			16276745	-1	tier1	-	no_errors	ENST00000205557	ensembl	human	known	74_37	silent	39.62	32	21	SNP	0.411	T	T	16276745	G	T	16276745	2	4	110	1	0	0	0	0	0	0	0	1	57	1045	37	2		2	ABCC6	16	16276745	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	11473709	16276745	74078008	210	30013											
ACSM2B	348158	genome.wustl.edu	37	chr16	20556566	20556566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggggcaggacgttgccCttatcatctataacctggag	8	9	13	11	2	2	0	1	0	1	0	2	2	2	2	3	5	2	2	3	5	3	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:20556566C>A	ENST00000329697.6	-	10	1362	c.1194G>T	c.(1192-1194)aaG>aaT	p.K398N	ACSM2B_ENST00000565322.1_Missense_Mutation_p.K319N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.K398N|ACSM2B_ENST00000565232.1_Missense_Mutation_p.K398N|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	398					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGACGTTGCCCTTATCATCTA	0.502																																																	0													112	93	99					16																	20556566		2201	4300	6501	SO:0001583	missense	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"Acyl-CoA synthetase family"	30931	protein-coding gene	gene with protein product	"xenobiotic/medium chain fatty acid:CoA ligase"	614359	"acyl-CoA synthetase medium-chain family member 2"	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1194G>T	16.37:g.20556566C>A	ENSP00000327453:p.Lys398Asn		Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K398N	ENST00000329697.6	37	c.1194	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.577899	0.00131	.	.	ENSG00000066813	ENST00000329697	T	0.46063	0.88	3.38	-4.75	0.03239	AMP-dependent synthetase/ligase (1);	1.328340	0.05254	N	0.514497	T	0.17959	0.0431	N	0.13140	0.3	0.20975	N	0.999816	B;B	0.14438	0.01;0.01	B;B	0.19946	0.027;0.027	T	0.17837	-1.0356	10	0.09843	T	0.71	-0.2908	0.8203	0.01110	0.3223:0.158:0.117:0.4027	.	398;398	A8K051;Q68CK6	.;ACS2B_HUMAN	N	398	ENSP00000327453:K398N	ENSP00000327453:K398N	K	-	3	2	ACSM2B	20464067	0.000000	0.05858	0.018000	0.16275	0.008000	0.06430	-2.852000	0.00731	-0.507000	0.06549	-0.251000	0.11542	AAG	ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.502	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	-	0	34	0	C	NM_182617		20556566	-1	tier1	-	no_errors	ENST00000329697	ensembl	human	known	74_37	missense	56.14	25	32	SNP	0.001	A	A	20556566	C	A	20556566	3	1	110	1	0	0	0	0	1	0	0	0	184	680	24	3	559	3	ACSM2B	16	20556566	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	4279821	20556566	69798187	211	30014											
UQCRC2	7385	genome.wustl.edu	37	chr16	21964769	21964769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctactaaccagagccggcTctttctcggtgagctcaggt	8	10	11	12	2	3	2	1	1	2	1	4	2	3	2	2	3	5	3	2	3	2	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:21964769T>A	ENST00000268379.4	+	1	789	c.25T>A	c.(25-27)Tct>Act	p.S9T	UQCRC2_ENST00000561553.1_Missense_Mutation_p.S9T	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	9					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CAGAGCCGGCTCTTTCTCGGT	0.577																																					Colon(123;450 1645 12841 25393 45623)												0													52	53	52					16																	21964769		2198	4300	6498	SO:0001583	missense	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"Mitochondrial respiratory chain complex / Complex III"	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.25T>A	16.37:g.21964769T>A	ENSP00000268379:p.Ser9Thr		B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.S9T	ENST00000268379.4	37	c.25	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	T	13.95	2.390513	0.42410	.	.	ENSG00000140740	ENST00000268379	T	0.11495	2.77	5.51	0.133	0.14766	.	0.414083	0.30177	N	0.010222	T	0.09949	0.0244	M	0.65975	2.015	0.20638	N	0.999879	B	0.09022	0.002	B	0.04013	0.001	T	0.29852	-0.9998	10	0.24483	T	0.36	-5.0925	5.6728	0.17731	0.4892:0.0:0.1407:0.3701	.	9	P22695	QCR2_HUMAN	T	9	ENSP00000268379:S9T	ENSP00000268379:S9T	S	+	1	0	UQCRC2	21872270	0.006000	0.16342	0.637000	0.29366	0.674000	0.39518	-0.145000	0.10265	0.077000	0.16863	0.533000	0.62120	TCT	UQCRC2	-	NULL	ENSG00000140740		0.577	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	-	0	29	0	T	NM_003366		21964769	1	tier1	-	no_errors	ENST00000268379	ensembl	human	known	74_37	missense	64.71	12	22	SNP	0.622	A	A	21964769	T	A	21964769	3	1	110	1	0	0	0	0	1	0	0	0	17069	1551	54	5	27	5	UQCRC2	16	21964769	Missense_Mutation	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	1408203	21964769	68389984	212	30015											
COG7	91949	genome.wustl.edu	37	chr16	23464262	23464262	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggccctgaaggccgcAttgatccactccttcacgtc	7	8	10	16	3	1	2	1	2	0	0	4	3	3	2	5	2	1	1	5	2	1	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:23464262A>G	ENST00000307149.5	-	1	239	c.54T>C	c.(52-54)aaT>aaC	p.N18N	CTD-2270L9.4_ENST00000570080.1_lincRNA	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	18					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGAAGGCCGCATTGATCCACT	0.612																																																	0													59	57	58					16																	23464262		2197	4300	6497	SO:0001819	synonymous_variant	0			AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"Components of oligomeric golgi complex"	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.54T>C	16.37:g.23464262A>G			Q6UWU7	Silent	SNP	pfam_COG7	p.N18	ENST00000307149.5	37	c.54	CCDS10610.1	16																																																																																			COG7	-	pfam_COG7	ENSG00000168434		0.612	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG7	HGNC	protein_coding	OTTHUMT00000211625.1	-	0	50	0	A			23464262	-1	tier1	-	no_errors	ENST00000307149	ensembl	human	known	74_37	silent	42.86	12	9	SNP	0.954	G	G	23464262	A	G	23464262	2	3	110	1	0	0	0	0	0	0	0	1	3670	214	8	4		4	COG7	16	23464262	Silent	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	1499493	23464262	66890491	213	30016											
PRKCB	5579	genome.wustl.edu	37	chr16	24135161	24135161	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctttttgcagagggcCaagatcagtcagggaaccaa	11	9	11	10	0	2	2	2	0	0	2	3	3	3	3	3	2	2	2	3	2	3	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:24135161C>A	ENST00000321728.7	+	9	1099	c.924C>A	c.(922-924)gcC>gcA	p.A308A	PRKCB_ENST00000303531.7_Silent_p.A308A	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	308					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGCAGAGGGCCAAGATCAGTC	0.493																																																	0													89	82	85					16																	24135161		2197	4300	6497	SO:0001819	synonymous_variant	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"protein kinase C, beta 1"	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.924C>A	16.37:g.24135161C>A			C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom	p.A308	ENST00000321728.7	37	c.924	CCDS10618.1	16																																																																																			PRKCB	-	pirsf_Protein_kinase_C_a/b/g	ENSG00000166501		0.493	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	-	0	89	0	C	NM_212535		24135161	1	tier1	-	no_errors	ENST00000303531	ensembl	human	known	74_37	silent	38.27	50	31	SNP	1.000	A	A	24135161	C	A	24135161	2	1	110	1	0	0	0	0	0	0	0	1	12550	581	21	3		3	PRKCB	16	24135161	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	670899	24135161	66219592	214	30017											
SEZ6L2	26470	genome.wustl.edu	37	chr16	29909173	29909173	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccactctgggggcctcaCctggcaggtagcccatctct	5	9	11	16	0	3	0	1	0	2	0	4	0	3	0	4	4	2	2	4	4	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:29909173C>G	ENST00000308713.5	-	2	739		c.e2+1		ASPHD1_ENST00000308748.5_5'Flank|ASPHD1_ENST00000483405.1_5'Flank|SEZ6L2_ENST00000562159.1_Splice_Site|SEZ6L2_ENST00000346932.5_Splice_Site|SEZ6L2_ENST00000537485.1_Intron|SEZ6L2_ENST00000350527.3_Splice_Site	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2						adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGGCCTCACCTGGCAGGTA	0.652																																																	0													79	89	86					16																	29909173		2197	4300	6497	SO:0001630	splice_region_variant	0			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"type I transmembrane receptor (seizure related protein)"					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.211+1G>C	16.37:g.29909173C>G			B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Splice_Site	SNP	-	e2+1	ENST00000308713.5	37	c.211+1	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658404	0.47467	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.678	0.85284	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEZ6L2	29816674	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	4.491000	0.60326	2.211000	0.71520	0.462000	0.41574	.	SEZ6L2	-	-	ENSG00000174938		0.652	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	-	0	21	0	C	NM_012410	Intron	29909173	-1	tier1	-	no_errors	ENST00000308713	ensembl	human	known	74_37	splice_site	47.83	12	11	SNP	1.000	G	G	29909173	C	G	29909173	5	3	110	1	0	0	0	0	0	0	1	0	14189	521	18	5	2627	5	SEZ6L2	16	29909173	Splice_Site	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	5774012	29909173	60445580	215	30018											
ITGAD	3681	genome.wustl.edu	37	chr16	31426246	31426246	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcactggtgagagagccCatcccctccccccagaacct	8	8	7	18	0	1	3	1	1	1	2	4	4	3	3	7	1	2	0	7	1	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:31426246C>G	ENST00000389202.2	+	18	2266	c.2217C>G	c.(2215-2217)ccC>ccG	p.P739P		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	739					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGAGAGAGCCCATCCCCTCCC	0.562																																																	0													139	119	126					16																	31426246		2197	4300	6497	SO:0001819	synonymous_variant	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"CD molecules", "Integrins"	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2217C>G	16.37:g.31426246C>G			Q15575|Q15576	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.P739	ENST00000389202.2	37	c.2217	CCDS32438.1	16																																																																																			ITGAD	-	pfam_Integrin_alpha-2	ENSG00000156886		0.562	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1	-	0	41	0	C	NM_005353		31426246	1	tier1	-	no_errors	ENST00000389202	ensembl	human	known	74_37	silent	44.44	25	20	SNP	0.102	G	G	31426246	C	G	31426246	2	3	110	1	0	0	0	0	0	0	0	1	7911	581	21	5		5	ITGAD	16	31426246	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	1517073	31426246	58928507	216	30019											
SNX20	124460	genome.wustl.edu	37	chr16	50707505	50707505	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggcctgcaggcgctGcagggccctctctccggccg	2	6	14	19	4	1	0	0	0	1	0	4	0	3	0	5	4	2	3	5	4	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:50707505G>C	ENST00000330943.4	-	4	934	c.763C>G	c.(763-765)Cag>Gag	p.Q255E	RP11-401P9.5_ENST00000570241.2_RNA|SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	255					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TGCAGGCGCTGCAGGGCCCTC	0.741																																																	0													10	11	11					16																	50707505		2113	4139	6252	SO:0001583	missense	0			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"Sorting nexins"	30390	protein-coding gene	gene with protein product	"selectin ligand interactor cytoplasmic 1"	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.763C>G	16.37:g.50707505G>C	ENSP00000332062:p.Gln255Glu		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.Q255E	ENST00000330943.4	37	c.763	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564845	0.27915	.	.	ENSG00000167208	ENST00000330943	T	0.59772	0.24	5.78	3.81	0.43845	.	0.471169	0.23215	N	0.050629	T	0.44787	0.1310	L	0.44542	1.39	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.28267	-1.0049	10	0.27082	T	0.32	-24.5733	7.3127	0.26483	0.1451:0.2885:0.5664:0.0	.	255	Q7Z614	SNX20_HUMAN	E	255	ENSP00000332062:Q255E	ENSP00000332062:Q255E	Q	-	1	0	SNX20	49265006	0.035000	0.19736	0.531000	0.27976	0.941000	0.58515	1.900000	0.39828	0.766000	0.33244	0.561000	0.74099	CAG	SNX20	-	NULL	ENSG00000167208		0.741	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	-	0	29	0	G	NM_153337		50707505	-1	tier1	-	no_errors	ENST00000330943	ensembl	human	known	74_37	missense	45.45	18	15	SNP	0.495	C	C	50707505	G	C	50707505	3	2	110	1	0	0	0	0	1	0	0	0	14937	1328	46	5	334	5	SNX20	16	50707505	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	19281259	50707505	39647248	217	30020											
LPCAT2	54947	genome.wustl.edu	37	chr16	55616969	55616969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtaataaagtcagccctGaaaagcatgaagagagtacc	17	6	9	9	0	1	3	1	2	0	1	1	4	1	3	3	0	3	3	3	0	7	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:55616969G>C	ENST00000262134.5	+	14	1778	c.1594G>C	c.(1594-1596)Gaa>Caa	p.E532Q		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	532					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AGTCAGCCCTGAAAAGCATGA	0.408																																																	0													74	75	75					16																	55616969		2198	4300	6498	SO:0001583	missense	0			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"EF-hand domain containing"	26032	protein-coding gene	gene with protein product		612040	"acyltransferase like 1"	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1594G>C	16.37:g.55616969G>C	ENSP00000262134:p.Glu532Gln		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E532Q	ENST00000262134.5	37	c.1594	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144627	0.57044	.	.	ENSG00000087253	ENST00000262134	T	0.74421	-0.84	6.06	6.06	0.98353	.	0.419971	0.26414	N	0.024510	T	0.54532	0.1864	N	0.08118	0	0.47183	D	0.99934	B	0.17465	0.022	B	0.13407	0.009	T	0.53114	-0.8484	10	0.52906	T	0.07	-28.0843	9.9351	0.41545	0.0723:0.1401:0.7876:0.0	.	532	Q7L5N7	PCAT2_HUMAN	Q	532	ENSP00000262134:E532Q	ENSP00000262134:E532Q	E	+	1	0	LPCAT2	54174470	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	5.159000	0.64923	2.885000	0.99019	0.579000	0.79373	GAA	LPCAT2	-	NULL	ENSG00000087253		0.408	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	-	0	34	0	G	NM_017839		55616969	1	tier1	-	no_errors	ENST00000262134	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.994	C	C	55616969	G	C	55616969	3	2	110	1	0	0	0	0	1	0	0	0	8946	1291	45	5	1648	5	LPCAT2	16	55616969	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4909464	55616969	34737784	218	30021											
TMCO7	79613	genome.wustl.edu	37	chr16	69007950	69007950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgccctgctgtcagaCgtctatcctgagaaaatctt	8	12	11	10	1	3	2	1	1	2	2	4	3	4	2	2	2	2	2	2	2	3	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:69007950C>T	ENST00000261778.1	+	15	2733	c.2721C>T	c.(2719-2721)gaC>gaT	p.D907D		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	907						integral component of membrane (GO:0016021)											TGCTGTCAGACGTCTATCCTG	0.458																																																	0													73	71	72					16																	69007950		1921	4130	6051	SO:0001819	synonymous_variant	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 7"	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2721C>T	16.37:g.69007950C>T			Q569F9|Q9H9K1	Silent	SNP	pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold	p.D907	ENST00000261778.1	37	c.2721	CCDS45516.1	16																																																																																			TANGO6	-	superfamily_ARM-type_fold	ENSG00000103047		0.458	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANGO6	HGNC	protein_coding	OTTHUMT00000433471.2	-	0	38	0	C	XM_928235.2		69007950	1	tier1	-	no_errors	ENST00000261778	ensembl	human	known	74_37	silent	40.00	42	28	SNP	0.566	T	T	69007950	C	T	69007950	2	4	110	1	0	0	0	0	0	0	0	1	16048	535	19	1		1	TMCO7	16	69007950	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	13390981	69007950	21346803	219	30022											
HYDIN	54768	genome.wustl.edu	37	chr16	70874024	70874024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtttgtatgggggcatcCcagcttgatagataaagcag	10	13	12	6	0	0	2	0	1	0	1	1	2	1	2	1	2	2	5	1	2	4	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:70874024C>A	ENST00000393567.2	-	76	13136	c.12986G>T	c.(12985-12987)gGg>gTg	p.G4329V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4329					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGGGCATCCCAGCTTGATA	0.473																																																	0													4	4	4					16																	70874024		1482	3630	5112	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12986G>T	16.37:g.70874024C>A	ENSP00000377197:p.Gly4329Val		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.G4329V	ENST00000393567.2	37	c.12986	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339089	0.81911	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01099	5.34	5.59	5.59	0.84812	.	0.000000	0.33534	U	0.004815	T	0.05686	0.0149	M	0.73598	2.24	0.80722	D	1	P	0.46277	0.875	P	0.56514	0.8	T	0.48246	-0.9052	10	0.30854	T	0.27	.	19.1717	0.93580	0.0:1.0:0.0:0.0	.	4328	F8WD23	.	V	4329;4328	ENSP00000377197:G4329V	ENSP00000313052:G4328V	G	-	2	0	HYDIN	69431525	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.007000	0.63984	2.634000	0.89283	0.505000	0.49811	GGG	HYDIN	-	NULL	ENSG00000157423		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	30	0	C			70874024	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	48.72	20	19	SNP	1.000	A	A	70874024	C	A	70874024	3	1	110	1	0	0	0	0	1	0	0	0	7494	623	22	3	2423	3	HYDIN	16	70874024	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	1866074	70874024	19480729	220	30023											
HYDIN	54768	genome.wustl.edu	37	chr16	70891651	70891651	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgacttgttcagagaGatgagaggttcggtagtttt	9	14	15	3	1	1	4	1	2	0	3	2	6	1	4	0	3	0	4	0	3	1	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:70891651G>T	ENST00000393567.2	-	72	12402	c.12252C>A	c.(12250-12252)atC>atA	p.I4084I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4084					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTTCAGAGAGATGAGAGGTT	0.483																																																	0													183	206	198					16																	70891651		2012	4199	6211	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12252C>A	16.37:g.70891651G>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.I4084	ENST00000393567.2	37	c.12252	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0	77	0	G			70891651	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	24.04	79	25	SNP	0.992	T	T	70891651	G	T	70891651	2	4	110	1	0	0	0	0	0	0	0	1	7494	932	33	3		3	HYDIN	16	70891651	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	17627	70891651	19463102	221	30024											
GLG1	2734	genome.wustl.edu	37	chr16	74506261	74506261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttacgtggcagaagttctGaattatgggctcacaggctc	10	11	11	9	1	2	2	1	1	1	1	3	2	2	2	0	3	1	4	0	3	4	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:74506261G>C	ENST00000422840.2	-	14	2100	c.2101C>G	c.(2101-2103)Cag>Gag	p.Q701E	GLG1_ENST00000205061.5_Missense_Mutation_p.Q701E|GLG1_ENST00000447066.2_Missense_Mutation_p.Q690E	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	701					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGAAGTTCTGAATTATGGGC	0.423																																																	0													113	108	110					16																	74506261		2198	4300	6498	SO:0001583	missense	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"golgi apparatus protein 1"			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2101C>G	16.37:g.74506261G>C	ENSP00000405984:p.Gln701Glu		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.Q701E	ENST00000422840.2	37	c.2101	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962483	0.53400	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.77	5.77	0.91146	.	0.062472	0.64402	D	0.000003	T	0.58018	0.2093	L	0.39245	1.2	0.80722	D	1	B;B;B	0.29766	0.256;0.22;0.136	B;B;B	0.33960	0.173;0.058;0.097	T	0.51482	-0.8700	9	0.19590	T	0.45	.	19.9946	0.97381	0.0:0.0:1.0:0.0	.	701;701;690	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	E	701;690;701	.	ENSP00000205061:Q701E	Q	-	1	0	GLG1	73063762	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.359000	0.97115	2.728000	0.93425	0.591000	0.81541	CAG	GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.423	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	-	0	88	0	G	NM_012201		74506261	-1	tier1	-	no_errors	ENST00000205061	ensembl	human	known	74_37	missense	46.30	58	50	SNP	1.000	C	C	74506261	G	C	74506261	3	2	110	1	0	0	0	0	1	0	0	0	6462	1299	45	5	1570	5	GLG1	16	74506261	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3614610	74506261	15848492	222	30025											
CBFA2T3	863	genome.wustl.edu	37	chr16	88947723	88947723	+	Frame_Shift_Del	DEL	C	C	-																															ctgaggcccttcgggaccggCggagctgctgcggggccggg																								rs200535158		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:88947723delC	ENST00000268679.4	-	9	1774	c.1378delG	c.(1378-1380)gccfs	p.A460fs	RP11-830F9.5_ENST00000562574.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000448839.1_Frame_Shift_Del_p.A384fs|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Frame_Shift_Del_p.A422fs|CBFA2T3_ENST00000360302.2_Frame_Shift_Del_p.A374fs|CBFA2T3_ENST00000327483.5_Frame_Shift_Del_p.A374fs	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	460					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		TCGGGACCGGCGGAGCTGCTg	0.736			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0													10	11	10					16																	88947723		2145	4245	6390	SO:0001589	frameshift_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1378delG	16.37:g.88947723delC	ENSP00000268679:p.Ala460fs		D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Frame_Shift_Del	DEL	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.A460fs	ENST00000268679.4	37	c.1378	CCDS10972.1	16																																																																																			CBFA2T3	-	prints_MTG16	ENSG00000129993		0.736	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2		0	21	0	C	NM_005187		88947723	-1	tier1		no_errors	ENST00000268679	ensembl	human	known	74_37	frame_shift_del	35.71	9	5	DEL	0.000	-	-	88947723	C	-	88947723	7	5	110	1	0	1	0	1	0	0	0	0	2705	768	27	0	599	0	CBFA2T3	16	88947723	Frame_Shift_Del	DEL	C	TCGA-LN-A49Y-01A-11D-A27G-09	14441462	88947723	1407030	223	30026	109	2									
CBFA2T3	863	genome.wustl.edu	37	chr16	88947724	88947724	+	Silent	SNP	G	G	A																															tgaggcccttcgggaccggcGgagctgctgcggggccgggc																								rs2272437		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr16:88947724G>A	ENST00000268679.4	-	9	1773	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	RP11-830F9.5_ENST00000562574.1_RNA|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000448839.1_Silent_p.S383S|RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Silent_p.S421S|CBFA2T3_ENST00000360302.2_Silent_p.S373S|CBFA2T3_ENST00000327483.5_Silent_p.S373S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	459					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGGGACCGGCGGAGCTGCTgc	0.736			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"		L	0													9	11	10					16																	88947724		2145	4240	6385	SO:0001819	synonymous_variant	0			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"Zinc fingers, MYND-type", "A-kinase anchor proteins"	1537	protein-coding gene	gene with protein product	"myeloid translocation gene 8 and 16b"	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1377C>T	16.37:g.88947724G>A			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.S459	ENST00000268679.4	37	c.1377	CCDS10972.1	16																																																																																			CBFA2T3	-	prints_MTG16	ENSG00000129993		0.736	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	-	0	22	0	G	NM_005187		88947724	-1	tier1	rs2272437	no_errors	ENST00000268679	ensembl	human	known	74_37	silent	33.33	10	5	SNP	0.009	A	A	88947724	G	A	88947724	2	1	110	1	0	0	0	0	0	0	0	1	2705	1103	39	1		1	CBFA2T3	16	88947724	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1	88947724	1407029	224	30027	109	2									
TP53	7157	genome.wustl.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:7577114C>A	ENST00000269305.4	-	8	1013	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000420246.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C275F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M							71	61	64					17																	7577114		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>T	17.37:g.7577114C>A	ENSP00000269305:p.Cys275Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C275F	ENST00000269305.4	37	c.824	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	313	0	C	NM_000546		7577114	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	47.38	190	172	SNP	1.000	A	A	7577114	C	A	7577114	3	1	110	1	0	0	0	0	1	0	0	0	16429	478	17	3	462	3	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		7577114	73618096	225	30028											
TP53	7157	genome.wustl.edu	37	chr17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgggcctccggttcatgCcgcccatgcaggaactgtta	7	9	13	12	2	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	2	2	rs121912656|rs397516437		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	GRCh37	CM010464|CM900209	TP53	M	rs121912656						151	113	126					17																	7577547		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.G245V	ENST00000269305.4	37	c.734	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	208	0	C	NM_000546		7577547	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	47.20	132	118	SNP	1.000	A	A	7577547	C	A	7577547	3	1	110	1	0	0	0	0	1	0	0	0	16429	739	26	3	556	3	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	433	7577547	73617663	226	30029											
PIK3R6	146850	genome.wustl.edu	37	chr17	8736255	8736255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagcagtaaatctcctcCagcctctctacgtgtccctc	8	10	7	16	2	2	0	0	0	2	0	7	1	4	0	4	0	4	2	4	0	3	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:8736255C>T	ENST00000311434.9	-	9	992	c.753G>A	c.(751-753)ctG>ctA	p.L251L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	251					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										AAATCTCCTCCAGCCTCTCTA	0.697																																																	0													29	36	34					17																	8736255		1965	4135	6100	SO:0001819	synonymous_variant	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"chromosome 17 open reading frame 38"	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.753G>A	17.37:g.8736255C>T			Q658R3	Silent	SNP	pfam_PI3K_1B_gamma_p101_su	p.L251	ENST00000311434.9	37	c.753		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.697	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0	62	0	C	NM_001010855		8736255	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	silent	46.15	21	18	SNP	1.000	T	T	8736255	C	T	8736255	2	4	110	1	0	0	0	0	0	0	0	1	11962	581	21	3		3	PIK3R6	17	8736255	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	1158708	8736255	72458955	227	30030											
MYH13	8735	genome.wustl.edu	37	chr17	10219245	10219245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagtcttgctttctgcAtgttcagatcatggatcaac	8	15	8	10	0	6	1	3	0	3	1	6	2	6	2	0	1	4	4	0	1	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:10219245A>T	ENST00000418404.3	-	27	3999	c.3836T>A	c.(3835-3837)aTg>aAg	p.M1279K	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.M1279K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1279					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTTTCTGCATGTTCAGATC	0.512																																																	0													241	236	237					17																	10219245		2013	4170	6183	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"Myosins / Myosin superfamily : Class II"	7571	protein-coding gene	gene with protein product	"extraocular muscle myosin heavy chain", "extraocular myosin heavy chain"	603487	"myosin, heavy polypeptide 13, skeletal muscle"			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3836T>A	17.37:g.10219245A>T	ENSP00000404570:p.Met1279Lys		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1279K	ENST00000418404.3	37	c.3836	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	A	13.89	2.373370	0.42105	.	.	ENSG00000006788	ENST00000252172	T	0.79845	-1.31	4.27	3.17	0.36434	Myosin tail (1);	.	.	.	.	T	0.71484	0.3345	L	0.43152	1.355	0.28750	N	0.901479	B	0.11235	0.004	B	0.23275	0.045	T	0.65685	-0.6108	9	0.87932	D	0	.	4.0128	0.09631	0.6396:0.0:0.3604:0.0	.	1279	Q9UKX3	MYH13_HUMAN	K	1279	ENSP00000252172:M1279K	ENSP00000252172:M1279K	M	-	2	0	MYH13	10159970	0.001000	0.12720	1.000000	0.80357	0.951000	0.60555	1.252000	0.32874	1.687000	0.51057	0.450000	0.29827	ATG	MYH13	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000006788		0.512	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0	70	0	A	NM_003802		10219245	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	49.15	30	29	SNP	0.998	T	T	10219245	A	T	10219245	3	4	110	1	0	0	0	0	1	0	0	0	10070	217	8	5	2036	5	MYH13	17	10219245	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	1482990	10219245	70975965	228	30031											
TBC1D26	353149	genome.wustl.edu	37	chr17	15641610	15641610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagctgtctcaaagagtatAcaaagtcattcccctggcgg	11	10	10	10	1	2	1	2	0	1	1	4	1	3	1	2	2	2	3	2	2	5	4	rs202131240		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:15641610A>G	ENST00000437605.2	+	7	546	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	TBC1D26_ENST00000579428.1_Missense_Mutation_p.Y99C|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000580194.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000433873.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	99							Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAGAGTATACAAAGTCATT	0.527																																																	0													94	90	91					17																	15641610		1953	4139	6092	SO:0001583	missense	0				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.296A>G	17.37:g.15641610A>G	ENSP00000410111:p.Tyr99Cys		A8K929|Q4G172	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Y99C	ENST00000437605.2	37	c.296	CCDS42265.1	17	.	.	.	.	.	.	.	.	.	.	a	6.884	0.532498	0.13127	.	.	ENSG00000214946	ENST00000437605	T	0.40756	1.02	1.44	-0.0271	0.13927	Rab-GAP/TBC domain (2);	0.436109	0.22940	U	0.053784	T	0.48943	0.1528	L	0.58583	1.82	0.19945	N	0.999948	D;D	0.76494	0.999;0.981	D;D	0.67231	0.95;0.914	T	0.36601	-0.9741	10	0.52906	T	0.07	.	3.1782	0.06576	0.6204:0.0:0.0:0.3796	.	99;99	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	C	99	ENSP00000410111:Y99C	ENSP00000410111:Y99C	Y	+	2	0	TBC1D26	15582335	0.952000	0.32445	0.008000	0.14137	0.029000	0.11900	1.676000	0.37565	-0.258000	0.09446	0.338000	0.21704	TAC	TBC1D26	-	superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000214946		0.527	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D26	HGNC	protein_coding			0	65	0	A	NM_178571		15641610	1			no_errors	ENST00000437605	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.413	G	G	15641610	A	G	15641610	3	3	110	1	0	0	0	0	1	0	0	0	15663	391	14	4	314	4	TBC1D26	17	15641610	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	5422365	15641610	65553600	229	30032											
EVPLL	645027	genome.wustl.edu	37	chr17	18284783	18284783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggacctcttcctggacGtggacaaggcccggcggctc	7	7	13	14	3	2	0	1	0	1	0	4	3	3	3	3	6	0	1	3	6	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:18284783G>A	ENST00000399134.4	+	3	524	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	56										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTTCCTGGACGTGGACAAGGC	0.682																																																	0													53	62	59					17																	18284783		692	1591	2283	SO:0001583	missense	0				CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.166G>A	17.37:g.18284783G>A	ENSP00000382086:p.Val56Met		B4DPD4	Missense_Mutation	SNP	NULL	p.V56M	ENST00000399134.4	37	c.166	CCDS45626.1	17	.	.	.	.	.	.	.	.	.	.	.	8.176	0.792662	0.16258	.	.	ENSG00000214860	ENST00000399134	T	0.32515	1.45	.	.	.	.	.	.	.	.	T	0.18341	0.0440	N	0.20986	0.625	0.22354	N	0.999178	B	0.21147	0.052	B	0.09377	0.004	T	0.19778	-1.0295	8	0.52906	T	0.07	.	6.5164	0.22250	2.0E-4:0.0:0.9998:0.0	.	56	A8MZ36	EVPLL_HUMAN	M	56	ENSP00000382086:V56M	ENSP00000382086:V56M	V	+	1	0	EVPLL	18225508	0.996000	0.38824	0.923000	0.36655	0.054000	0.15201	2.130000	0.42064	0.432000	0.26286	0.074000	0.15403	GTG	EVPLL	-	NULL	ENSG00000214860		0.682	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EVPLL	HGNC	protein_coding	OTTHUMT00000130836.2	-	0	81	0	G	NM_001145127		18284783	1	tier1	-	no_errors	ENST00000399134	ensembl	human	novel	74_37	missense	54.12	39	46	SNP	1.000	A	A	18284783	G	A	18284783	3	1	110	1	0	0	0	0	1	0	0	0	5309	1145	40	1	172	1	EVPLL	17	18284783	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2643173	18284783	62910427	230	30033											
MEOX1	4222	genome.wustl.edu	37	chr17	41738714	41738714	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgccaggcaggaggcTgagaagtcagggtacgctgc	8	6	18	9	1	1	1	1	1	0	1	1	3	1	2	1	5	3	5	1	5	2	1	rs367782056		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:41738714T>A	ENST00000318579.4	-	1	608	c.189A>T	c.(187-189)tcA>tcT	p.S63S	MEOX1_ENST00000329168.3_Silent_p.S63S|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000549132.1_Missense_Mutation_p.Q34L	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	63					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGCAGGAGGCTGAGAAGTCAG	0.647																																																	0													51	55	54					17																	41738714		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"Homeoboxes / ANTP class : HOXL subclass"	7013	protein-coding gene	gene with protein product		600147	"mesenchyme homeo box 1"			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.189A>T	17.37:g.41738714T>A			A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	superfamily_Homeodomain-like,pfscan_Homeobox_dom	p.Q34L	ENST00000318579.4	37	c.101	CCDS11466.1	17	.	.	.	.	.	.	.	.	.	.	T	10.30	1.312324	0.23908	.	.	ENSG00000005102	ENST00000549132	.	.	.	4.68	-9.36	0.00629	.	.	.	.	.	T	0.47820	0.1466	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60021	-0.7344	5	0.87932	D	0	-31.3287	1.2626	0.02004	0.3509:0.1025:0.1592:0.3874	.	.	.	.	L	34	.	ENSP00000449049:Q34L	Q	-	2	0	MEOX1	39094240	0.000000	0.05858	0.519000	0.27824	0.952000	0.60782	-3.120000	0.00595	-1.943000	0.01039	-0.313000	0.08912	CAG	MEOX1	-	NULL	ENSG00000005102		0.647	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEOX1	HGNC	protein_coding	OTTHUMT00000409452.1	-	0	54	0	T			41738714	-1	tier1	-	no_errors	ENST00000549132	ensembl	human	known	74_37	missense	54.55	30	36	SNP	0.394	A	A	41738714	T	A	41738714	2	1	110	1	0	0	0	0	0	0	0	1	9511	1567	55	5		5	MEOX1	17	41738714	Silent	SNP	T	TCGA-LN-A49Y-01A-11D-A27G-09	23453931	41738714	39456496	231	30034											
C17orf71	55181	genome.wustl.edu	37	chr17	57289759	57289759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcacaatagccgagctcGatctactggtgcttgcaact	11	11	8	11	2	2	0	1	0	1	0	3	2	2	0	1	1	6	3	1	1	5	4	rs369051063		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:57289759G>T	ENST00000543872.2	+	3	2081	c.1817G>T	c.(1816-1818)cGa>cTa	p.R606L	SMG8_ENST00000580498.1_3'UTR|SMG8_ENST00000300917.5_Missense_Mutation_p.R606L|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	606					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						AGCCGAGCTCGATCTACTGGT	0.413																																																	0													103	110	108					17																	57289759		2203	4300	6503	SO:0001583	missense	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"chromosome 17 open reading frame 71", "smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1817G>T	17.37:g.57289759G>T	ENSP00000438748:p.Arg606Leu		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.R606L	ENST00000543872.2	37	c.1817	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570689	0.65765	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.41065	1.01;1.01	5.77	5.77	0.91146	.	0.105207	0.64402	D	0.000003	T	0.62756	0.2454	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	T	0.59429	-0.7456	10	0.46703	T	0.11	-11.132	18.9741	0.92728	0.0:0.0:1.0:0.0	.	606	Q8ND04	SMG8_HUMAN	L	606	ENSP00000300917:R606L;ENSP00000438748:R606L	ENSP00000300917:R606L	R	+	2	0	SMG8	54644541	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.729000	0.93468	0.655000	0.94253	CGA	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.413	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	-	0	38	0	G	NM_018149		57289759	1	tier1	-	no_errors	ENST00000300917	ensembl	human	known	74_37	missense	48.21	28	27	SNP	1.000	T	T	57289759	G	T	57289759	3	4	110	1	0	0	0	0	1	0	0	0	1884	1058	37	2	1823	2	C17orf71	17	57289759	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	15551045	57289759	23905451	232	30035											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62856576	62856576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggcttggtgtagacggCgtttcccgctaacttctcag	7	11	12	11	4	1	1	1	0	1	1	3	2	2	1	1	3	1	4	1	3	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:62856576C>G	ENST00000584306.1	-	11	4218	c.3688G>C	c.(3688-3690)Gcc>Ccc	p.A1230P	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A207P|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A268P|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A348P|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1230P	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1230						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGTAGACGGCGTTTCCCGCT	0.567																																																	0													40	53	49					17																	62856576		2202	4296	6498	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3688G>C	17.37:g.62856576C>G	ENSP00000464535:p.Ala1230Pro		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A1230P	ENST00000584306.1	37	c.3688	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	13.11	2.139967	0.37728	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T;T	0.59083	2.71;1.48;1.48;0.29	2.23	-3.08	0.05347	.	.	.	.	.	T	0.33498	0.0865	N	0.08118	0	0.09310	N	1	B;D	0.54397	0.008;0.966	B;P	0.47673	0.007;0.554	T	0.20338	-1.0278	9	0.72032	D	0.01	.	0.2954	0.00265	0.4099:0.2095:0.1502:0.2304	.	348;1230	B4DG20;O60309	.;L37A3_HUMAN	P	311;268;207;1230	ENSP00000344298:A311P;ENSP00000383674:A268P;ENSP00000335617:A207P;ENSP00000325713:A1230P	ENSP00000325713:A1230P	A	-	1	0	LRRC37A3	60287038	0.000000	0.05858	0.001000	0.08648	0.083000	0.17756	-0.829000	0.04415	-0.994000	0.03463	-1.054000	0.02325	GCC	LRRC37A3	-	NULL	ENSG00000176809		0.567	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	-	0	61	0	C	NM_199340		62856576	-1	tier1	-	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	29.55	62	26	SNP	0.001	G	G	62856576	C	G	62856576	3	3	110	1	0	0	0	0	1	0	0	0	9028	768	27	5	1232	5	LRRC37A3	17	62856576	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	5566817	62856576	18338634	233	30036											
JMJD6	23210	genome.wustl.edu	37	chr17	74714927	74714927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgcactgtcccatcgccctCggatccagactcgcactgga	7	8	10	16	3	0	1	0	0	0	1	5	3	2	3	3	2	1	2	3	2	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:74714927C>G	ENST00000397625.4	-	6	1210	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q	JMJD6_ENST00000445478.2_Missense_Mutation_p.E366Q|JMJD6_ENST00000585429.1_Silent_p.P319P	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	366					cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CCATCGCCCTCGGATCCAGAC	0.567																																																	0													73	77	76					17																	74714927		2116	4226	6342	SO:0001583	missense	0			AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"phosphatidylserine receptor"	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.1096G>C	17.37:g.74714927C>G	ENSP00000380750:p.Glu366Gln		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E366Q	ENST00000397625.4	37	c.1096	CCDS42384.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706870	0.89018	.	.	ENSG00000070495	ENST00000445478;ENST00000397625	.	.	.	6.02	6.02	0.97574	.	0.048136	0.85682	D	0.000000	T	0.73321	0.3572	M	0.63843	1.955	0.80722	D	1	P;D	0.56521	0.929;0.976	P;P	0.56343	0.535;0.796	T	0.65994	-0.6033	9	0.22109	T	0.4	-28.8538	20.5407	0.99260	0.0:1.0:0.0:0.0	.	366;366	Q6NYC1;Q6NYC1-3	JMJD6_HUMAN;.	Q	366	.	ENSP00000380750:E366Q	E	-	1	0	JMJD6	72226522	1.000000	0.71417	0.945000	0.38365	0.885000	0.51271	7.298000	0.78815	2.865000	0.98341	0.655000	0.94253	GAG	JMJD6	-	NULL	ENSG00000070495		0.567	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD6	HGNC	protein_coding	OTTHUMT00000403211.1	-	0	61	0	C	NM_015167		74714927	-1	tier1	-	no_errors	ENST00000445478	ensembl	human	known	74_37	missense	29.77	92	39	SNP	1.000	G	G	74714927	C	G	74714927	3	3	110	1	0	0	0	0	1	0	0	0	7980	893	31	5	160	5	JMJD6	17	74714927	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	11858351	74714927	6480283	234	30037											
ENPP7	339221	genome.wustl.edu	37	chr17	77707327	77707327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaatatatcgagaaccacgGggtggttcacaacatgtact	14	9	9	9	2	1	1	1	0	0	1	2	2	1	1	1	3	3	2	1	3	6	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:77707327G>C	ENST00000328313.5	+	2	496	c.275G>C	c.(274-276)gGg>gCg	p.G92A		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGAACCACGGGGTGGTTCAC	0.632																																																	0													102	94	97					17																	77707327		2203	4300	6503	SO:0001583	missense	0			AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"alkaline sphingomyelinase"					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.275G>C	17.37:g.77707327G>C	ENSP00000332656:p.Gly92Ala			Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core	p.G92A	ENST00000328313.5	37	c.275	CCDS11763.1	17	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983097	0.93044	.	.	ENSG00000182156	ENST00000328313	D	0.92965	-3.14	4.76	4.76	0.60689	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.056836	0.64402	D	0.000001	D	0.97192	0.9082	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.98583	1.0651	10	0.87932	D	0	-30.3278	17.7516	0.88436	0.0:0.0:1.0:0.0	.	92	Q6UWV6	ENPP7_HUMAN	A	92	ENSP00000332656:G92A	ENSP00000332656:G92A	G	+	2	0	ENPP7	75321922	1.000000	0.71417	0.916000	0.36221	0.971000	0.66376	9.552000	0.98115	2.183000	0.69458	0.491000	0.48974	GGG	ENPP7	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000182156		0.632	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENPP7	HGNC	protein_coding	OTTHUMT00000437038.1	-	0	48	0	G	NM_178543		77707327	1	tier1	-	no_errors	ENST00000328313	ensembl	human	known	74_37	missense	15.53	135	25	SNP	1.000	C	C	77707327	G	C	77707327	3	2	110	1	0	0	0	0	1	0	0	0	5151	1232	43	5	281	5	ENPP7	17	77707327	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2992400	77707327	3487883	235	30038											
TBC1D16	125058	genome.wustl.edu	37	chr17	77916004	77916004	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggtggaagtagtccGtctgtggaggcgggtagagt	10	9	18	4	2	1	2	0	1	1	1	2	4	2	4	1	5	0	2	1	5	5	2	rs368445644		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:77916004G>T	ENST00000310924.2	-	11	2025	c.1910C>A	c.(1909-1911)aCg>aAg	p.T637K	TBC1D16_ENST00000576768.1_Splice_Site_p.T262K|TBC1D16_ENST00000340848.7_Splice_Site_p.T275K	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	637							Rab GTPase activator activity (GO:0005097)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GAAGTAGTCCGTCTGTGGAGG	0.627																																					Ovarian(14;397 562 4850 31922 49378)												0													51	35	40					17																	77916004		2197	4299	6496	SO:0001630	splice_region_variant	0			AL157485	CCDS11766.1, CCDS62351.1, CCDS62352.1, CCDS62353.1	17q25.3	2013-07-10				ENSG00000167291			28356	protein-coding gene	gene with protein product						23019362	Standard	NM_019020		Approved	MGC25062, FLJ20748	uc002jxj.4	Q8TBP0		ENST00000310924.2:c.1909-1C>A	17.37:g.77916004G>T			B9A6L7|I3L1E0|I3L4U2|Q8N3Z4|Q96DH7	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T637K	ENST00000310924.2	37	c.1910	CCDS11766.1	17	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760112	0.69763	.	.	ENSG00000167291	ENST00000340848;ENST00000310924	T;T	0.21543	2.0;2.0	4.7	4.7	0.59300	Rab-GAP/TBC domain (3);	0.166361	0.52532	D	0.000066	T	0.50463	0.1617	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.58451	-0.7634	10	0.72032	D	0.01	-23.0241	17.6225	0.88086	0.0:0.0:1.0:0.0	.	637;637;275	Q8TBP0;B9A6L7;Q8N3Z4	TBC16_HUMAN;.;.	K	275;637	ENSP00000341517:T275K;ENSP00000309794:T637K	ENSP00000309794:T637K	T	-	2	0	TBC1D16	75530599	1.000000	0.71417	0.985000	0.45067	0.249000	0.25844	9.088000	0.94132	2.141000	0.66446	0.484000	0.47621	ACG	TBC1D16	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000167291		0.627	TBC1D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D16	HGNC	protein_coding	OTTHUMT00000437145.1	-	0	12	0	G	NM_019020	Missense_Mutation	77916004	-1	tier1	-	no_errors	ENST00000310924	ensembl	human	known	74_37	missense	75.00	13	39	SNP	1.000	T	T	77916004	G	T	77916004	5	4	110	1	0	0	0	0	0	0	1	0	15652	1159	40	2	401	2	TBC1D16	17	77916004	Splice_Site	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	208677	77916004	3279206	236	30039											
RNF213	57674	genome.wustl.edu	37	chr17	78261934	78261934	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaggctcagagcagcccGcaattccaggaccacacgga	12	4	12	13	2	1	2	1	1	0	1	2	4	2	4	3	3	2	3	3	3	1	1	rs148613334		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:78261934G>T	ENST00000582970.1	+	4	725	c.582G>T	c.(580-582)ccG>ccT	p.P194P	RNF213_ENST00000456466.1_Silent_p.P194P|RNF213_ENST00000508628.2_Silent_p.P243P|RNF213_ENST00000319921.4_Silent_p.P194P	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	194					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAGCAGCCCGCAATTCCAGG	0.692																																																	0													32	32	32					17																	78261934		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.582G>T	17.37:g.78261934G>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P194	ENST00000582970.1	37	c.582	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.692	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1		0	8	0	G	NM_020914		78261934	1			no_errors	ENST00000582970	ensembl	human	known	74_37	silent	10.64	42	5	SNP	0.000	T	T	78261934	G	T	78261934	2	4	110	1	0	0	0	0	0	0	0	1	13522	1074	38	2		2	RNF213	17	78261934	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	345930	78261934	2933276	237	30040											
ZNF750	79755	genome.wustl.edu	37	chr17	80789738	80789738	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggagtgtggaaggccGacttggtgtggaaagacacg	11	6	17	7	2	0	1	0	0	0	1	0	5	0	4	2	5	1	0	2	5	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr17:80789738G>T	ENST00000269394.3	-	2	1426	c.593C>A	c.(592-594)tCg>tAg	p.S198*	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	198					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGAAGGCCGACTTGGTGTG	0.582																																																	0													58	61	60					17																	80789738		2203	4300	6503	SO:0001587	stop_gained	0			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.593C>A	17.37:g.80789738G>T	ENSP00000269394:p.Ser198*		Q9H899	Nonsense_Mutation	SNP	NULL	p.S198*	ENST00000269394.3	37	c.593	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.932089	0.99008	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.66	4.7	0.59300	.	0.090866	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-25.3689	13.5441	0.61693	0.0748:0.0:0.9252:0.0	.	.	.	.	X	198	.	.	S	-	2	0	ZNF750	78383027	1.000000	0.71417	0.979000	0.43373	0.286000	0.27126	6.784000	0.75084	1.398000	0.46701	0.655000	0.94253	TCG	ZNF750	-	NULL	ENSG00000141579		0.582	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	-	0	24	0	G	NM_024702		80789738	-1	tier1	-	no_errors	ENST00000269394	ensembl	human	known	74_37	nonsense	76.47	4	13	SNP	0.998	T	T	80789738	G	T	80789738	4	4	110	1	0	0	0	0	0	1	0	0	18180	1059	37	2	1586	2	ZNF750	17	80789738	Nonsense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2527804	80789738	405472	238	30041											
NDC80	10403	genome.wustl.edu	37	chr18	2590098	2590098	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcatacatgagcaatttgGagtctcattcagccattctt	11	13	8	9	0	3	1	2	1	2	0	4	2	3	2	1	2	3	2	1	2	2	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr18:2590098G>T	ENST00000261597.4	+	10	1134	c.952G>T	c.(952-954)Gag>Tag	p.E318*		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	318	Interaction with NEK2 and ZWINT.|Interaction with SMC1A.|Interaction with the N-terminus of CDCA1.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GAGCAATTTGGAGTCTCATTC	0.388																																																	0													72	67	68					18																	2590098		2203	4300	6503	SO:0001587	stop_gained	0			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"highly expressed in cancer, rich in leucine heptad repeats (yeast)", "kinetochore associated 2", "NDC80 kinetochore complex component homolog (S. cerevisiae)"	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.952G>T	18.37:g.2590098G>T	ENSP00000261597:p.Glu318*		Q6PJX2	Nonsense_Mutation	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.E318*	ENST00000261597.4	37	c.952	CCDS11827.1	18	.	.	.	.	.	.	.	.	.	.	G	39	7.767159	0.98477	.	.	ENSG00000080986	ENST00000261597;ENST00000543946	.	.	.	5.79	5.79	0.91817	.	0.093573	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-16.3729	20.024	0.97514	0.0:0.0:1.0:0.0	.	.	.	.	X	318	.	ENSP00000261597:E318X	E	+	1	0	NDC80	2580098	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.725000	0.74752	2.718000	0.92993	0.655000	0.94253	GAG	NDC80	-	NULL	ENSG00000080986		0.388	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	-	0	36	0	G	NM_006101		2590098	1	tier1	-	no_errors	ENST00000261597	ensembl	human	known	74_37	nonsense	30.77	36	16	SNP	1.000	T	T	2590098	G	T	2590098	4	4	110	1	0	0	0	0	0	1	0	0	10281	1175	41	3	986	3	NDC80	18	2590098	Nonsense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09		2590098	75487150	239	30042											
CDH2	1000	genome.wustl.edu	37	chr18	25543357	25543357	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaatgtctccagggtgtggGgctgcagatcggaccggata	8	8	15	10	2	1	1	0	0	1	1	3	3	1	3	3	5	1	2	3	5	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr18:25543357G>T	ENST00000269141.3	-	15	2901	c.2478C>A	c.(2476-2478)gcC>gcA	p.A826A	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Silent_p.A795A	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	826					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.A826A(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGGTGTGGGGCTGCAGATC	0.502																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											80	66	71					18																	25543357		2203	4300	6503	SO:0001819	synonymous_variant	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"CD molecules", "Cadherins / Major cadherins"	1759	protein-coding gene	gene with protein product	"N-cadherin"	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2478C>A	18.37:g.25543357G>T			A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.A826	ENST00000269141.3	37	c.2478	CCDS11891.1	18																																																																																			CDH2	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000170558		0.502	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0	31	0	G	NM_001792		25543357	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T	T	25543357	G	T	25543357	2	4	110	1	0	0	0	0	0	0	0	1	3112	1219	43	3		3	CDH2	18	25543357	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	22953259	25543357	52533891	240	30043											
SETBP1	26040	genome.wustl.edu	37	chr18	42456562	42456562	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaggaggaagtctggaaGagaagaggaggccaaggcat	16	4	17	4	0	1	2	0	0	1	2	1	7	1	6	1	6	0	2	1	6	5	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr18:42456562G>A	ENST00000282030.5	+	3	836				SETBP1_ENST00000426838.4_Silent_p.K191K	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1							nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGTCTGGAAGAGAAGAGGAG	0.498									Schinzel-Giedion syndrome																																								0													76	74	75					18																	42456562		692	1591	2283	SO:0001627	intron_variant	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.540+7314G>A	18.37:g.42456562G>A			A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	NULL	p.K191	ENST00000282030.5	37	c.573	CCDS11923.2	18																																																																																			SETBP1	-	NULL	ENSG00000152217		0.498	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	-	0	93	0	G	NM_001130110		42456562	1	tier1	-	no_errors	ENST00000426838	ensembl	human	known	74_37	silent	87.72	7	50	SNP	0.000	A	A	42456562	G	A	42456562	1	1	110	0	1	0	0	0	0	0	0	0	14174	933	33	3		3	SETBP1	18	42456562	Intron	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	16913205	42456562	35620686	241	30044											
CELF5	60680	genome.wustl.edu	37	chr19	3285972	3285972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcggccatcacgcccatcGcgcacagcgtcccccagccg	6	3	10	22	7	1	0	1	0	0	0	3	0	2	0	6	1	2	1	6	1	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:3285972G>T	ENST00000292672.2	+	10	1172	c.1135G>T	c.(1135-1137)Gcg>Tcg	p.A379S	CELF5_ENST00000541430.2_Missense_Mutation_p.A354S|CELF5_ENST00000588101.1_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	379					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CACGCCCATCGCGCACAGCGT	0.761																																																	0													12	13	13					19																	3285972		2095	4171	6266	SO:0001583	missense	0			AF248649	CCDS12106.1, CCDS54197.1	19p13	2013-02-12	2010-02-19	2010-02-19		ENSG00000161082		"RNA binding motif (RRM) containing"	14058	protein-coding gene	gene with protein product		612680	"Bruno (Drosophila) -like 5, RNA binding protein", "bruno-like 5, RNA binding protein (Drosophila)"	BRUNOL5		10893231	Standard	NM_001172673		Approved		uc002lxm.3	Q8N6W0		ENST00000292672.2:c.1135G>T	19.37:g.3285972G>T	ENSP00000292672:p.Ala379Ser		D6W614|O75253|Q59GP2|Q86VW6|Q9BZC0|Q9NR86	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A379S	ENST00000292672.2	37	c.1135	CCDS12106.1	19	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009522	0.35415	.	.	ENSG00000161082	ENST00000292672;ENST00000541430;ENST00000334293	T;T;T	0.41758	0.99;1.82;1.63	4.15	4.15	0.48705	.	0.624572	0.15597	N	0.254109	T	0.15089	0.0364	N	0.02539	-0.55	0.27790	N	0.942868	B;B;B	0.29341	0.042;0.242;0.01	B;B;B	0.21546	0.027;0.035;0.012	T	0.13415	-1.0510	10	0.11485	T	0.65	-7.6922	8.2399	0.31654	0.1136:0.0:0.8864:0.0	.	265;354;379	B4DFI3;Q8N6W0-2;Q8N6W0	.;.;CELF5_HUMAN	S	379;354;265	ENSP00000292672:A379S;ENSP00000443498:A354S;ENSP00000335182:A265S	ENSP00000292672:A379S	A	+	1	0	CELF5	3236972	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.830000	0.48136	2.051000	0.60960	0.491000	0.48974	GCG	CELF5	-	NULL	ENSG00000161082		0.761	CELF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELF5	HGNC	protein_coding	OTTHUMT00000452574.1		0	14	0	G	NM_021938		3285972	1			no_errors	ENST00000292672	ensembl	human	known	74_37	missense	60.00	2	3	SNP	1.000	T	T	3285972	G	T	3285972	3	4	110	1	0	0	0	0	1	0	0	0	3226	1087	38	2	1173	2	CELF5	19	3285972	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09		3285972	55843011	242	30045											
APBA3	9546	genome.wustl.edu	37	chr19	3751454	3751454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccgtcctccacgcagaagCccagctgctcgcgggcgtgg	5	6	14	16	5	0	1	0	0	0	1	3	1	2	1	4	2	4	3	4	2	1	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:3751454C>A	ENST00000316757.3	-	9	1693	c.1493G>T	c.(1492-1494)gGc>gTc	p.G498V	AC005954.4_ENST00000586503.1_RNA	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	498	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCAGAAGCCCAGCTGCTC	0.721																																																	0													26	24	25					19																	3751454		2168	4265	6433	SO:0001583	missense	0			AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"X11-like 2"	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.1493G>T	19.37:g.3751454C>A	ENSP00000315136:p.Gly498Val		O60483|Q9UPZ2	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom	p.G498V	ENST00000316757.3	37	c.1493	CCDS12110.1	19	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503116	0.85176	.	.	ENSG00000011132	ENST00000316757	D	0.88896	-2.44	4.7	4.7	0.59300	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.95746	0.8616	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96883	0.9647	10	0.87932	D	0	.	15.1497	0.72687	0.0:1.0:0.0:0.0	.	498	O96018	APBA3_HUMAN	V	498	ENSP00000315136:G498V	ENSP00000315136:G498V	G	-	2	0	APBA3	3702454	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	5.803000	0.69129	2.165000	0.68154	0.555000	0.69702	GGC	APBA3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000011132		0.721	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA3	HGNC	protein_coding	OTTHUMT00000453634.2	-	0	8	0	C			3751454	-1	tier1	-	no_errors	ENST00000316757	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	A	A	3751454	C	A	3751454	3	1	110	1	0	0	0	0	1	0	0	0	758	739	26	3	246	3	APBA3	19	3751454	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	465482	3751454	55377529	243	30046											
FBN3	84467	genome.wustl.edu	37	chr19	8161811	8161811	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaccctcgggtgcacttGcagcggtagctaccggggat	6	10	14	11	3	0	0	0	0	0	0	1	1	0	1	2	4	6	5	2	4	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:8161811G>T	ENST00000600128.1	-	43	5781	c.5367C>A	c.(5365-5367)tgC>tgA	p.C1789*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.C1789*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.C1789*			Q75N90	FBN3_HUMAN	fibrillin 3	1789	EGF-like 27; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGTGCACTTGCAGCGGTAGC	0.602																																																	0													77	71	73					19																	8161811		2203	4300	6503	SO:0001587	stop_gained	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5367C>A	19.37:g.8161811G>T	ENSP00000470498:p.Cys1789*		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.C1789*	ENST00000600128.1	37	c.5367	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	G	45	11.396134	0.99556	.	.	ENSG00000142449	ENST00000270509	.	.	.	3.39	2.33	0.28932	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6962	0.23201	0.2247:0.0:0.7753:0.0	.	.	.	.	X	1789	.	ENSP00000270509:C1789X	C	-	3	2	FBN3	8067811	0.996000	0.38824	0.452000	0.26994	0.099000	0.18886	1.114000	0.31196	0.508000	0.28173	0.561000	0.74099	TGC	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.602	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0	20	0	G	NM_032447		8161811	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	nonsense	56.25	7	9	SNP	1.000	T	T	8161811	G	T	8161811	4	4	110	1	0	0	0	0	0	1	0	0	5726	1311	46	3	3150	3	FBN3	19	8161811	Nonsense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4410357	8161811	50967172	244	30047											
DHPS	1725	genome.wustl.edu	37	chr19	12792434	12792434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaagccggtggtgccGaaggcctccagcagtgcgcg	6	6	17	12	4	0	0	0	0	0	0	1	2	1	1	4	4	4	2	4	4	2	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:12792434G>T	ENST00000210060.7	-	1	282	c.147C>A	c.(145-147)ttC>ttA	p.F49L	DHPS_ENST00000351660.5_Missense_Mutation_p.F49L|DHPS_ENST00000594424.1_5'Flank|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000599481.1_5'Flank	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	49					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						CGGTGGTGCCGAAGGCCTCCA	0.632																																																	0													59	60	60					19																	12792434		2203	4300	6503	SO:0001583	missense	0			U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"migration-inducing gene 13"	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.147C>A	19.37:g.12792434G>T	ENSP00000210060:p.Phe49Leu		A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Missense_Mutation	SNP	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	p.F49L	ENST00000210060.7	37	c.147	CCDS12276.1	19	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223570	0.39300	.	.	ENSG00000095059	ENST00000210060;ENST00000351660	T;T	0.42900	0.96;0.96	5.53	3.38	0.38709	.	0.343803	0.32015	N	0.006708	T	0.28863	0.0716	L	0.33339	1.005	0.38094	D	0.937041	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.18871	0.023;0.002;0.002	T	0.10359	-1.0633	10	0.19590	T	0.45	-11.7203	9.2865	0.37760	0.0813:0.1556:0.7631:0.0	.	49;49;49	Q5J8M5;P49366-2;P49366	.;.;DHYS_HUMAN	L	49	ENSP00000210060:F49L;ENSP00000221303:F49L	ENSP00000210060:F49L	F	-	3	2	DHPS	12653434	0.995000	0.38212	0.598000	0.28837	0.266000	0.26442	2.501000	0.45389	0.691000	0.31592	0.313000	0.20887	TTC	DHPS	-	pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase	ENSG00000095059		0.632	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHPS	HGNC	protein_coding	OTTHUMT00000462708.1	-	0	49	0	G	NM_001930		12792434	-1	tier1	-	no_errors	ENST00000210060	ensembl	human	known	74_37	missense	46.30	29	25	SNP	0.838	T	T	12792434	G	T	12792434	3	4	110	1	0	0	0	0	1	0	0	0	4499	1049	37	2	998	2	DHPS	19	12792434	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	4630623	12792434	46336549	245	30048											
GCDH	2639	genome.wustl.edu	37	chr19	13008521	13008521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgccactcccagggctGcccccgagatggtttctctg	5	10	11	15	1	1	1	0	0	1	1	3	2	2	1	4	2	2	2	4	2	0	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:13008521G>T	ENST00000222214.5	+	11	1298	c.1087G>T	c.(1087-1089)Gcc>Tcc	p.A363S	GCDH_ENST00000591470.1_Missense_Mutation_p.A363S|GCDH_ENST00000457854.1_Missense_Mutation_p.A363S|GCDH_ENST00000422947.2_Missense_Mutation_p.A319S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	363					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	TCCCAGGGCTGCCCCCGAGAT	0.607																																					GBM(123;875 1636 7726 16444 26754)												0													130	140	137					19																	13008521		2203	4300	6503	SO:0001583	missense	0			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"glutaryl-Coenzyme A dehydrogenase"			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1087G>T	19.37:g.13008521G>T	ENSP00000222214:p.Ala363Ser		A8K2Z2|O14719	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.A363S	ENST00000222214.5	37	c.1087	CCDS12286.1	19	.	.	.	.	.	.	.	.	.	.	G	7.472	0.646950	0.14516	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000422947	D;D;D	0.96104	-3.91;-3.91;-3.91	5.6	0.764	0.18465	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.265926	0.42964	D	0.000639	D	0.88592	0.6478	N	0.25060	0.705	0.33247	D	0.558062	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.20955	0.032;0.009;0.004;0.002	T	0.81512	-0.0899	10	0.48119	T	0.1	.	4.7716	0.13158	0.6419:0.0:0.2293:0.1287	.	319;199;363;363	B4DK85;B4DUY0;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	S	363;363;319	ENSP00000394872:A363S;ENSP00000222214:A363S;ENSP00000394821:A319S	ENSP00000222214:A363S	A	+	1	0	GCDH	12869521	0.861000	0.29849	0.606000	0.28943	0.010000	0.07245	1.683000	0.37638	0.087000	0.17167	-1.105000	0.02106	GCC	GCDH	-	pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000105607		0.607	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	-	0	47	0	G			13008521	1	tier1	-	no_errors	ENST00000222214	ensembl	human	known	74_37	missense	10.00	34	4	SNP	0.938	T	T	13008521	G	T	13008521	3	4	110	1	0	0	0	0	1	0	0	0	6312	1319	46	3	1125	3	GCDH	19	13008521	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	216087	13008521	46120462	246	30049											
EMR3	84658	genome.wustl.edu	37	chr19	14740853	14740853	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggggtcagtgtttacctGctggctgaggaggcagtaga	10	9	16	6	0	1	2	1	1	0	1	1	3	1	3	1	5	2	5	1	5	3	3	rs550899495		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:14740853G>T	ENST00000253673.5	-	14	1910	c.1810C>A	c.(1810-1812)Cag>Aag	p.Q604K	EMR3_ENST00000443157.2_Missense_Mutation_p.Q478K|EMR3_ENST00000599900.1_Missense_Mutation_p.Q389K|EMR3_ENST00000344373.4_Missense_Mutation_p.Q552K	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	604					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GTGTTTACCTGCTGGCTGAGG	0.443																																																	0													84	76	79					19																	14740853		2203	4300	6503	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"-", "GPCR / Class B : Orphans"	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1810C>A	19.37:g.14740853G>T	ENSP00000253673:p.Gln604Lys			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.Q604K	ENST00000253673.5	37	c.1810	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859610	0.51376	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.30182	1.54;1.54;1.54	3.76	3.76	0.43208	GPCR, family 2, secretin-like, conserved site (1);	.	.	.	.	T	0.35008	0.0917	N	0.25094	0.71	0.25854	N	0.98391	P;D;D	0.61080	0.855;0.966;0.989	B;P;P	0.58013	0.443;0.77;0.831	T	0.13202	-1.0518	9	0.34782	T	0.22	.	13.4681	0.61268	0.0:0.0:1.0:0.0	.	478;552;604	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	K	478;604;552	ENSP00000396208:Q478K;ENSP00000253673:Q604K;ENSP00000340758:Q552K	ENSP00000253673:Q604K	Q	-	1	0	EMR3	14601853	0.996000	0.38824	0.993000	0.49108	0.958000	0.62258	2.547000	0.45786	2.091000	0.63221	0.655000	0.94253	CAG	EMR3	-	NULL	ENSG00000131355		0.443	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	-	0	24	0	G	NM_032571		14740853	-1	tier1	-	no_errors	ENST00000253673	ensembl	human	known	74_37	missense	55.17	13	16	SNP	0.993	T	T	14740853	G	T	14740853	3	4	110	1	0	0	0	0	1	0	0	0	5122	1328	46	3	160	3	EMR3	19	14740853	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1732332	14740853	44388130	247	30050											
NOTCH3	4854	genome.wustl.edu	37	chr19	15285174	15285174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtcgcagcggccgtCggcaaagtggtcggcgcagt	5	6	17	13	6	0	0	0	0	0	0	3	0	0	0	2	5	1	3	2	5	1	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:15285174C>A	ENST00000263388.2	-	25	4516	c.4441G>T	c.(4441-4443)Gac>Tac	p.D1481Y		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1481					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGCGGCCGTCGGCAAAGTGG	0.687																																																	0													12	12	12					19																	15285174		2134	4174	6308	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"Ankyrin repeat domain containing"	7883	protein-coding gene	gene with protein product		600276	"Notch (Drosophila) homolog 3", "Notch homolog 3 (Drosophila)"	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.4441G>T	19.37:g.15285174C>A	ENSP00000263388:p.Asp1481Tyr		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.D1481Y	ENST00000263388.2	37	c.4441	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528136	0.64860	.	.	ENSG00000074181	ENST00000263388	D	0.95103	-3.61	4.93	3.9	0.45041	Notch domain (4);	.	.	.	.	D	0.96790	0.8952	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	D	0.96848	0.9623	9	0.87932	D	0	.	12.2	0.54319	0.0:0.9151:0.0:0.0849	.	1481	Q9UM47	NOTC3_HUMAN	Y	1481	ENSP00000263388:D1481Y	ENSP00000263388:D1481Y	D	-	1	0	NOTCH3	15146174	1.000000	0.71417	0.024000	0.17045	0.622000	0.37654	7.668000	0.83897	1.088000	0.41272	0.491000	0.48974	GAC	NOTCH3	-	pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom	ENSG00000074181		0.687	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0	31	0	C	NM_000435		15285174	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	missense	36.84	24	14	SNP	0.996	A	A	15285174	C	A	15285174	3	1	110	1	0	0	0	0	1	0	0	0	10589	884	31	2	2560	2	NOTCH3	19	15285174	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	544321	15285174	43843809	248	30051											
IL12RB1	3594	genome.wustl.edu	37	chr19	18170809	18170809	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagaggctcagtcctctcGcctttgtcccaggacatctc	6	11	9	15	2	3	1	1	0	2	1	8	3	5	2	3	2	0	1	3	2	0	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:18170809G>T	ENST00000600835.2	-	17	2176	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G	IL12RB1_ENST00000593993.2_Silent_p.G626G			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	626					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAGTCCTCTCGCCTTTGTCCC	0.597																																																	0													43	44	44					19																	18170809		1981	4155	6136	SO:0001819	synonymous_variant	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"Interleukins and interleukin receptors", "CD molecules", "Fibronectin type III domain containing"	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1878C>A	19.37:g.18170809G>T			A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G626	ENST00000600835.2	37	c.1878	CCDS54232.1	19																																																																																			IL12RB1	-	NULL	ENSG00000096996		0.597	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	-	0	25	0	G			18170809	-1	tier1	-	no_errors	ENST00000593993	ensembl	human	known	74_37	silent	36.84	24	14	SNP	0.000	T	T	18170809	G	T	18170809	2	4	110	1	0	0	0	0	0	0	0	1	7653	1074	38	2		2	IL12RB1	19	18170809	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2885635	18170809	40958174	249	30052											
ZNF599	148103	genome.wustl.edu	37	chr19	35258224	35258224	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactctcagtcaccaacctgCgcaggtgctttgggagaggc	8	8	13	12	1	2	1	2	0	1	1	3	3	2	1	2	3	3	2	2	3	1	1	rs74834692	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:35258224C>G	ENST00000329285.8	-	3	611	c.238G>C	c.(238-240)Gca>Cca	p.A80P	ZNF599_ENST00000588760.1_Missense_Mutation_p.A80P|ZNF599_ENST00000587354.2_Missense_Mutation_p.A80P	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CACCAACCTGCGCAGGTGCTT	0.552																																																	0													83	66	72					19																	35258224		2203	4300	6503	SO:0001583	missense	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"Zinc fingers, C2H2-type", "-"	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.238G>C	19.37:g.35258224C>G	ENSP00000333802:p.Ala80Pro		Q569K0|Q5PRG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A80P	ENST00000329285.8	37	c.238	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	T	0	-2.640249	0.00112	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000379196	T	0.21734	1.99	2.55	-5.11	0.02901	Krueppel-associated box (1);	.	.	.	.	T	0.03136	0.0092	N	0.00332	-1.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05225	-1.0898	9	0.02654	T	1	.	3.6096	0.08055	0.0834:0.3732:0.2247:0.3186	.	80	Q96NL3	ZN599_HUMAN	P	79;80;74	ENSP00000333802:A80P	ENSP00000333802:A80P	A	-	1	0	ZNF599	39950064	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.820000	0.00358	-4.385000	0.00052	-2.558000	0.00175	GCA	ZNF599	-	pfscan_Krueppel-associated_box	ENSG00000153896		0.552	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	-	0	39	0	C	XM_086046		35258224	-1	tier1	-	no_errors	ENST00000329285	ensembl	human	known	74_37	missense	59.46	15	22	SNP	0.000	G	G	35258224	C	G	35258224	3	3	110	1	0	0	0	0	1	0	0	0	18077	768	27	5	1536	5	ZNF599	19	35258224	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	17087415	35258224	23870759	250	30053											
CATSPERG	57828	genome.wustl.edu	37	chr19	38842979	38842979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatctatgacactattGccaccgagagcaccctcttc	10	9	5	17	1	2	2	0	1	2	1	3	3	2	2	5	0	2	1	5	0	2	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:38842979G>A	ENST00000409235.3	+	8	1019	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	CATSPERG_ENST00000215069.4_Missense_Mutation_p.A294T|CATSPERG_ENST00000410018.1_Missense_Mutation_p.A302T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	302					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGACACTATTGCCACCGAGAG	0.542																																																	0													137	115	121					19																	38842979		692	1591	2283	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"chromosome 19 open reading frame 15", "cation channel, sperm-associated, gamma"	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.904G>A	19.37:g.38842979G>A	ENSP00000386962:p.Ala302Thr		A6NEG6|Q659E1	Missense_Mutation	SNP	NULL	p.A302T	ENST00000409235.3	37	c.904	CCDS12514.2	19	.	.	.	.	.	.	.	.	.	.	G	14.84	2.654609	0.47467	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.56	-2.0	0.07433	.	0.569810	0.16872	N	0.196062	T	0.41903	0.1179	M	0.71581	2.175	0.22926	N	0.998552	P;P	0.51351	0.944;0.944	P;P	0.50825	0.651;0.651	T	0.39800	-0.9596	10	0.87932	D	0	-26.9763	8.6499	0.34029	0.0813:0.0:0.4551:0.4636	.	302;302	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	T	302;302;302;294	ENSP00000387057:A302T;ENSP00000386962:A302T;ENSP00000386950:A302T;ENSP00000215069:A294T	ENSP00000215069:A294T	A	+	1	0	CATSPERG	43534819	0.002000	0.14202	0.051000	0.19133	0.150000	0.21749	-0.176000	0.09811	-0.077000	0.12752	0.561000	0.74099	GCC	CATSPERG	-	NULL	ENSG00000099338		0.542	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	-	0	38	0	G	NM_021185		38842979	1	tier1	-	no_errors	ENST00000409235	ensembl	human	known	74_37	missense	7.14	52	4	SNP	0.372	A	A	38842979	G	A	38842979	3	1	110	1	0	0	0	0	1	0	0	0	2699	1319	46	3	930	3	CATSPERG	19	38842979	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3584755	38842979	20286004	251	30054											
SYCN	342898	genome.wustl.edu	37	chr19	39694850	39694850	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctgggcgcaaggcacGgaggcaagggccagggccag	8	1	19	13	3	0	0	0	0	0	0	0	1	0	1	3	6	0	3	3	6	2	0	rs374627027	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:39694850G>A	ENST00000318438.6	-	1	56	c.45C>T	c.(43-45)tcC>tcT	p.S15S		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	15					exocytosis (GO:0006887)	secretory granule membrane (GO:0030667)				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCAAGGCACGGAGGCAAGGG	0.716																																																	0													10	10	10					19																	39694850		1861	3941	5802	SO:0001819	synonymous_variant	0			BC039541	CCDS46070.1	19q13.2	2008-02-05	2005-05-26			ENSG00000179751			18442	protein-coding gene	gene with protein product			"insulin synthesis associated 1"	INSSA1		11839820	Standard	NM_001080468		Approved	SYL, FLJ27441	uc002okr.2	Q0VAF6		ENST00000318438.6:c.45C>T	19.37:g.39694850G>A				Silent	SNP	NULL	p.S15	ENST00000318438.6	37	c.45	CCDS46070.1	19																																																																																			SYCN	-	NULL	ENSG00000179751		0.716	SYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCN	HGNC	protein_coding	OTTHUMT00000463830.1	-	0	15	0	G			39694850	-1	tier1	-	no_errors	ENST00000318438	ensembl	human	known	74_37	silent	40.00	12	8	SNP	0.003	A	A	39694850	G	A	39694850	2	1	110	1	0	0	0	0	0	0	0	1	15477	1103	39	1		1	SYCN	19	39694850	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	851871	39694850	19434133	252	30055											
ZNF780A	284323	genome.wustl.edu	37	chr19	40581754	40581754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtcgaaaggctttccCacactccttacattcaaagg	12	10	8	11	1	1	1	1	1	0	0	4	2	3	1	2	2	1	1	2	2	4	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:40581754C>A	ENST00000595687.2	-	6	804	c.595G>T	c.(595-597)Ggg>Tgg	p.G199W	ZNF780A_ENST00000455521.1_Missense_Mutation_p.G200W|ZNF780A_ENST00000450241.2_Missense_Mutation_p.G165W|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.G199W|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.G200W	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGCTTTCCCACACTCCTTA	0.378																																																	0													87	85	86					19																	40581754		2203	4300	6503	SO:0001583	missense	0			AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"Zinc fingers, C2H2-type", "-"	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.595G>T	19.37:g.40581754C>A	ENSP00000472189:p.Gly199Trp		E9PB48|Q6ZN87	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G200W	ENST00000595687.2	37	c.598	CCDS33026.2	19	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393321	0.62066	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.37411	1.2;1.2	1.92	0.811	0.18739	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59362	0.2188	M	0.89414	3.03	0.34935	D	0.749759	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65335	-0.6193	9	0.87932	D	0	.	6.1569	0.20342	0.0:0.8209:0.0:0.1791	.	200;199	E9PB48;O75290	.;Z780A_HUMAN	W	199;200;199	ENSP00000400997:G200W;ENSP00000341507:G199W	ENSP00000341507:G199W	G	-	1	0	ZNF780A	45273594	0.652000	0.27349	0.195000	0.23364	0.762000	0.43233	1.182000	0.32029	0.124000	0.18369	0.305000	0.20034	GGG	ZNF780A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197782		0.378	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF780A	HGNC	protein_coding	OTTHUMT00000470066.1	-	0	57	0	C	NM_001010880		40581754	-1	tier1	-	no_errors	ENST00000455521	ensembl	human	known	74_37	missense	43.24	42	32	SNP	1.000	A	A	40581754	C	A	40581754	3	1	110	1	0	0	0	0	1	0	0	0	18200	594	21	3	1461	3	ZNF780A	19	40581754	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	886904	40581754	18547229	253	30056											
SPTBN4	57731	genome.wustl.edu	37	chr19	41025381	41025381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctggtggagaaccacGtgctggaggtggccgaggtg	6	8	19	8	2	0	1	0	0	0	1	0	4	0	2	2	6	4	3	2	6	1	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:41025381G>T	ENST00000352632.3	+	16	3063	c.2977G>T	c.(2977-2979)Gtg>Ttg	p.V993L	SPTBN4_ENST00000595535.1_Missense_Mutation_p.V993L|SPTBN4_ENST00000344104.3_Missense_Mutation_p.V993L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V993L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V993L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	993					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGAACCACGTGCTGGAGGT	0.667																																																	0													26	32	30					19																	41025381		2202	4298	6500	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"Pleckstrin homology (PH) domain containing"	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.2977G>T	19.37:g.41025381G>T	ENSP00000263373:p.Val993Leu		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.V993L	ENST00000352632.3	37	c.2977	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349599	0.24426	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.75704	-0.91;-0.96;-0.95	4.49	3.39	0.38822	.	0.130623	0.32593	U	0.005897	T	0.38585	0.1046	N	0.01048	-1.04	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.004;0.005	T	0.38650	-0.9651	10	0.11485	T	0.65	.	7.0681	0.25164	0.0:0.2636:0.5762:0.1602	.	993;993	Q9H254;Q71S06	SPTN4_HUMAN;.	L	993	ENSP00000263373:V993L;ENSP00000340345:V993L;ENSP00000340741:V993L	ENSP00000340345:V993L	V	+	1	0	SPTBN4	45717221	0.952000	0.32445	0.997000	0.53966	0.985000	0.73830	2.496000	0.45346	2.337000	0.79520	0.462000	0.41574	GTG	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000160460		0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0	62	0	G			41025381	1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	54.90	23	28	SNP	0.999	T	T	41025381	G	T	41025381	3	4	110	1	0	0	0	0	1	0	0	0	15168	1145	40	2	3035	2	SPTBN4	19	41025381	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	443627	41025381	18103602	254	30057											
CYP2A13	1553	genome.wustl.edu	37	chr19	41601712	41601712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggccagaatggagctctttCtcttcttcaccaccatcatg	8	13	7	13	0	5	1	2	0	3	1	6	2	5	2	3	2	1	1	3	2	1	3			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:41601712C>G	ENST00000330436.3	+	9	1351	c.1351C>G	c.(1351-1353)Ctc>Gtc	p.L451V		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	451					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GGAGCTCTTTCTCTTCTTCAC	0.557																																																	0													182	167	172					19																	41601712		2203	4300	6503	SO:0001583	missense	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"Cytochrome P450s"	2608	protein-coding gene	gene with protein product		608055	"cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.1351C>G	19.37:g.41601712C>G	ENSP00000332679:p.Leu451Val		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.L451V	ENST00000330436.3	37	c.1351	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	14.93	2.681182	0.47886	.	.	ENSG00000197838	ENST00000330436	T	0.70986	-0.53	4.18	4.18	0.49190	.	0.248638	0.33235	N	0.005130	T	0.72914	0.3520	M	0.76328	2.33	0.34103	D	0.662148	B	0.22746	0.074	B	0.36134	0.218	T	0.80269	-0.1453	10	0.87932	D	0	.	9.9954	0.41896	0.0:0.9002:0.0:0.0998	.	451	Q16696	CP2AD_HUMAN	V	451	ENSP00000332679:L451V	ENSP00000332679:L451V	L	+	1	0	CYP2A13	46293552	0.001000	0.12720	0.987000	0.45799	0.952000	0.60782	-0.048000	0.11944	2.225000	0.72522	0.568000	0.79292	CTC	CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV	ENSG00000197838		0.557	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	-	0	91	0	C	NM_000766		41601712	1	tier1	-	no_errors	ENST00000330436	ensembl	human	known	74_37	missense	6.67	112	8	SNP	1.000	G	G	41601712	C	G	41601712	3	3	110	1	0	0	0	0	1	0	0	0	4170	913	32	5	1385	5	CYP2A13	19	41601712	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	576331	41601712	17527271	255	30058											
ATP1A3	478	genome.wustl.edu	37	chr19	42474551	42474551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggctcaccatgtcagtgcCcagatcgatgcagaggatgg	10	7	14	10	1	2	2	2	0	0	2	3	4	2	3	2	3	2	2	2	3	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:42474551C>A	ENST00000302102.5	-	17	2557	c.2407G>T	c.(2407-2409)Ggc>Tgc	p.G803C	ATP1A3_ENST00000602133.1_Missense_Mutation_p.G773C|ATP1A3_ENST00000545399.1_Missense_Mutation_p.G816C|ATP1A3_ENST00000543770.1_Missense_Mutation_p.G814C	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	803					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATGTCAGTGCCCAGATCGATG	0.652																																																	0													101	85	91					19																	42474551		2203	4300	6503	SO:0001583	missense	0				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"ATPases / P-type"	801	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-3", "sodium pump subunit alpha-3", "sodium-potassium ATPase catalytic subunit alpha-3"	182350	"dystonia 12"	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2407G>T	19.37:g.42474551C>A	ENSP00000302397:p.Gly803Cys		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G803C	ENST00000302102.5	37	c.2407	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	c	17.27	3.347222	0.61183	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89	3.82	2.75	0.32379	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.117723	0.56097	N	0.000029	D	0.98118	0.9379	H	0.96398	3.815	0.80722	D	1	D;D;D;D	0.89917	0.992;0.999;1.0;0.999	D;D;D;D	0.97110	0.971;0.999;1.0;0.999	D	0.97669	1.0165	10	0.52906	T	0.07	.	10.56	0.45140	0.1946:0.8053:0.0:0.0	.	816;814;803;803	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	803;803;816;773;547;814	ENSP00000302397:G803C;ENSP00000411503:G803C;ENSP00000444688:G816C;ENSP00000437577:G814C	ENSP00000302397:G803C	G	-	1	0	ATP1A3	47166391	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.556000	0.82233	0.946000	0.37632	0.457000	0.33378	GGC	ATP1A3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000105409		0.652	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	-	0	58	0	C	NM_152296		42474551	-1	tier1	-	no_errors	ENST00000302102	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	A	A	42474551	C	A	42474551	3	1	110	1	0	0	0	0	1	0	0	0	1131	623	22	3	662	3	ATP1A3	19	42474551	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	872839	42474551	16654432	256	30059											
DHX34	9704	genome.wustl.edu	37	chr19	47870310	47870310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaccagccagcctggaaAccgccatcctctacctccgg	9	5	7	20	2	1	0	0	0	1	0	3	1	3	1	9	2	4	0	9	2	2	1	rs200731942		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:47870310A>G	ENST00000328771.4	+	7	2015	c.1666A>G	c.(1666-1668)Acc>Gcc	p.T556A	DHX34_ENST00000471451.1_3'UTR	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	556					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.T556A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCCTGGAAACCGCCATCCT	0.612																																																	1	Substitution - Missense(1)	skin(1)											36	38	37					19																	47870310		2203	4287	6490	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1666A>G	19.37:g.47870310A>G	ENSP00000331907:p.Thr556Ala		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T556A	ENST00000328771.4	37	c.1666	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	A	8.527	0.870215	0.17322	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02472	4.28	5.46	5.46	0.80206	Helicase-associated domain (1);	0.000000	0.64402	D	0.000005	T	0.03651	0.0104	L	0.31926	0.97	0.58432	D	0.999997	B	0.33171	0.4	B	0.33196	0.159	T	0.53872	-0.8377	10	0.49607	T	0.09	-21.9691	14.4994	0.67711	1.0:0.0:0.0:0.0	.	556	Q14147	DHX34_HUMAN	A	556;471	ENSP00000331907:T556A	ENSP00000257252:T471A	T	+	1	0	DHX34	52562145	1.000000	0.71417	0.392000	0.26245	0.658000	0.38924	5.824000	0.69279	2.066000	0.61787	0.459000	0.35465	ACC	DHX34	-	superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000134815		0.612	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3		0	34	0	A	NM_014681		47870310	1			no_errors	ENST00000328771	ensembl	human	known	74_37	missense	23.08	20	6	SNP	1.000	G	G	47870310	A	G	47870310	3	3	110	1	0	0	0	0	1	0	0	0	4521	43	2	4	1688	4	DHX34	19	47870310	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	5395759	47870310	11258673	257	30060											
CRX	1406	genome.wustl.edu	37	chr19	48342913	48342913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctatgccatgacctacgccCcggcctccgctttctgctct	4	11	7	19	3	2	1	0	1	2	0	3	1	3	1	7	1	3	2	7	1	2	3	rs61748454		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:48342913C>A	ENST00000221996.7	+	4	795	c.589C>A	c.(589-591)Ccg>Acg	p.P197T	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.P197T	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	197					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GACCTACGCCCCGGCCTCCGC	0.667																																					Pancreas(57;461 1196 22201 40716 47188)												0													59	61	60					19																	48342913		2203	4300	6503	SO:0001583	missense	0			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"Homeoboxes / PRD class"	2383	protein-coding gene	gene with protein product	"orthodenticle homeobox 3"	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.589C>A	19.37:g.48342913C>A	ENSP00000221996:p.Pro197Thr		Q0QD45	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.P197T	ENST00000221996.7	37	c.589	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399426	0.25291	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.85629	-2.01;-2.01	4.36	3.29	0.37713	Transcription factor Otx, C-terminal (1);	0.070717	0.56097	D	0.000024	T	0.75199	0.3817	L	0.36672	1.1	0.35619	D	0.809279	P	0.37914	0.611	B	0.34652	0.187	T	0.73898	-0.3837	10	0.15952	T	0.53	-7.6331	11.8461	0.52385	0.0:0.8214:0.1785:0.0	.	197	O43186	CRX_HUMAN	T	197	ENSP00000221996:P197T;ENSP00000445565:P197T	ENSP00000221996:P197T	P	+	1	0	CRX	53034725	1.000000	0.71417	0.939000	0.37840	0.317000	0.28152	4.433000	0.59929	0.781000	0.33589	0.467000	0.42956	CCG	CRX	-	pfam_Otx_TF_C	ENSG00000105392		0.667	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	-	0	43	0	C	NM_000554		48342913	1	tier1	-	no_errors	ENST00000221996	ensembl	human	known	74_37	missense	70.00	6	14	SNP	1.000	A	A	48342913	C	A	48342913	3	1	110	1	0	0	0	0	1	0	0	0	3909	623	22	3	599	3	CRX	19	48342913	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	472603	48342913	10786070	258	30061											
LRRC4B	94030	genome.wustl.edu	37	chr19	51021614	51021614	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggggtccacggccgagacGttgagcgtggccgaggcggt	6	5	19	11	7	0	2	0	1	0	1	1	4	1	2	3	6	1	1	3	6	0	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:51021614G>C	ENST00000599957.1	-	3	1553	c.1356C>G	c.(1354-1356)aaC>aaG	p.N452K	LRRC4B_ENST00000389201.3_Missense_Mutation_p.N452K			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	452	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGCCGAGACGTTGAGCGTGG	0.706																																																	0													41	47	45					19																	51021614		2121	4215	6336	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1356C>G	19.37:g.51021614G>C	ENSP00000471502:p.Asn452Lys		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.N452K	ENST00000599957.1	37	c.1356	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759496	0.49468	.	.	ENSG00000131409	ENST00000389201	T	0.64618	-0.11	3.45	3.45	0.39498	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.70011	0.3175	L	0.45470	1.425	0.45261	D	0.998263	D	0.89917	1.0	D	0.97110	1.0	T	0.66496	-0.5909	10	0.26408	T	0.33	.	12.7732	0.57434	0.0:0.0:1.0:0.0	.	452	Q9NT99	LRC4B_HUMAN	K	452	ENSP00000373853:N452K	ENSP00000373853:N452K	N	-	3	2	LRRC4B	55713426	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.523000	0.22925	1.934000	0.56057	0.462000	0.41574	AAC	LRRC4B	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000131409		0.706	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	-	0	48	0	G	NM_001080457		51021614	-1	tier1	-	no_errors	ENST00000389201	ensembl	human	known	74_37	missense	68.89	14	31	SNP	1.000	C	C	51021614	G	C	51021614	3	2	110	1	0	0	0	0	1	0	0	0	9042	1136	40	5	789	5	LRRC4B	19	51021614	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2678701	51021614	8107369	259	30062											
SYT3	84258	genome.wustl.edu	37	chr19	51133168	51133168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaccaccagctggtccgagCcatagaggtaccgcagggcg	9	5	13	14	3	1	1	1	0	0	1	2	2	2	1	5	3	3	3	5	3	2	2			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:51133168C>G	ENST00000338916.4	-	3	1568	c.935G>C	c.(934-936)gGc>gCc	p.G312A	SYT3_ENST00000544769.1_Missense_Mutation_p.G312A|SYT3_ENST00000600079.1_Missense_Mutation_p.G312A|SYT3_ENST00000593901.1_Missense_Mutation_p.G312A	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	312	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTGGTCCGAGCCATAGAGGTA	0.672																																																	0													84	81	82					19																	51133168		2203	4300	6503	SO:0001583	missense	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"Synaptotagmins"	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.935G>C	19.37:g.51133168C>G	ENSP00000340914:p.Gly312Ala		Q8N5Z1|Q8N640	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.G312A	ENST00000338916.4	37	c.935	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433109	0.43224	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.07444	3.19;3.19	4.67	4.67	0.58626	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.169680	0.39146	U	0.001444	T	0.04998	0.0134	N	0.11651	0.15	0.40981	D	0.984777	B	0.16802	0.019	B	0.10450	0.005	T	0.37820	-0.9689	10	0.42905	T	0.14	.	10.4299	0.44400	0.0:0.9068:0.0:0.0932	.	312	Q9BQG1	SYT3_HUMAN	A	312	ENSP00000340914:G312A;ENSP00000438883:G312A	ENSP00000340914:G312A	G	-	2	0	SYT3	55824980	0.957000	0.32711	0.997000	0.53966	0.803000	0.45373	0.269000	0.18589	2.301000	0.77427	0.655000	0.94253	GGC	SYT3	-	superfamily_C2_dom,prints_Synaptotagmin	ENSG00000213023		0.672	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	-	0	69	0	C	NM_032298		51133168	-1	tier1	-	no_errors	ENST00000338916	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	G	G	51133168	C	G	51133168	3	3	110	1	0	0	0	0	1	0	0	0	15522	739	26	5	861	5	SYT3	19	51133168	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	111554	51133168	7995815	260	30063											
ZNF528	84436	genome.wustl.edu	37	chr19	52919741	52919741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaataattcatactggaGagaggccttacagatgtagt	15	11	9	6	0	2	2	2	0	0	2	2	4	2	3	1	2	2	1	1	2	5	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:52919741G>A	ENST00000360465.3	+	7	2062	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E546*(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCATACTGGAGAGAGGCCTTA	0.388																																																	1	Substitution - Nonsense(1)	lung(1)											90	81	84					19																	52919741		2203	4300	6503	SO:0001583	missense	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"Zinc fingers, C2H2-type", "-"	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1636G>A	19.37:g.52919741G>A	ENSP00000353652:p.Glu546Lys		B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E546K	ENST00000360465.3	37	c.1636	CCDS33091.1	19	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649136	0.67358	.	.	ENSG00000167555	ENST00000360465	T	0.24350	1.86	1.84	1.84	0.25277	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44871	0.1314	M	0.65320	2	0.31072	N	0.712911	D	0.69078	0.997	D	0.78314	0.991	T	0.49072	-0.8977	9	0.72032	D	0.01	.	10.648	0.45632	0.0:0.0:1.0:0.0	.	546	Q3MIS6	ZN528_HUMAN	K	546	ENSP00000353652:E546K	ENSP00000353652:E546K	E	+	1	0	ZNF528	57611553	0.986000	0.35501	0.392000	0.26245	0.033000	0.12548	1.745000	0.38278	0.991000	0.38814	0.563000	0.77884	GAG	ZNF528	-	pfscan_Znf_C2H2	ENSG00000167555		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	-	0	35	0	G	NM_032423		52919741	1	tier1	-	no_errors	ENST00000360465	ensembl	human	known	74_37	missense	56.86	22	29	SNP	1.000	A	A	52919741	G	A	52919741	3	1	110	1	0	0	0	0	1	0	0	0	18017	943	33	3	1650	3	ZNF528	19	52919741	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1786573	52919741	6209242	261	30064											
ZNF415	55786	genome.wustl.edu	37	chr19	53619674	53619674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagaattcgatggccacgtCcctgaatgtcaactgtccgt	10	10	10	11	3	1	2	1	1	0	1	4	4	3	2	3	1	1	0	3	1	3	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:53619674C>A	ENST00000500065.4	-	3	361	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	ZNF415_ENST00000599261.1_Missense_Mutation_p.D10Y|ZNF415_ENST00000594011.1_Missense_Mutation_p.D10Y|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000595813.1_Missense_Mutation_p.D10Y|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000455735.2_5'UTR|ZNF415_ENST00000448501.1_5'UTR|ZNF415_ENST00000600574.1_Missense_Mutation_p.D10Y|ZNF415_ENST00000243643.4_Missense_Mutation_p.D10Y|ZNF415_ENST00000597748.1_Missense_Mutation_p.D10Y|ZNF415_ENST00000440291.1_5'UTR|ZNF415_ENST00000597503.1_Missense_Mutation_p.D10Y|ZNF415_ENST00000421033.1_5'UTR|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000595193.1_Missense_Mutation_p.D10Y	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ATGGCCACGTCCCTGAATGTC	0.393																																																	0													108	105	106					19																	53619674		2203	4300	6503	SO:0001583	missense	0			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"Zinc fingers, C2H2-type", "-"	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.28G>T	19.37:g.53619674C>A	ENSP00000439435:p.Asp10Tyr		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D10Y	ENST00000500065.4	37	c.28	CCDS54313.1	19	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698673	0.30142	.	.	ENSG00000170954	ENST00000243643;ENST00000500065	T;T	0.12039	2.72;2.72	2.94	2.94	0.34122	.	.	.	.	.	T	0.41719	0.1171	M	0.91038	3.17	0.39682	D	0.970914	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.918	T	0.51702	-0.8672	9	0.87932	D	0	.	9.4872	0.38937	0.0:1.0:0.0:0.0	.	10;10	F5H287;Q09FC8-5	.;.	Y	10	ENSP00000243643:D10Y;ENSP00000439435:D10Y	ENSP00000243643:D10Y	D	-	1	0	ZNF415	58311486	0.940000	0.31905	0.026000	0.17262	0.524000	0.34500	4.135000	0.57997	1.658000	0.50742	0.455000	0.32223	GAC	ZNF415	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000170954		0.393	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF415	HGNC	protein_coding	OTTHUMT00000464043.1	-	0	31	0	C	NM_018355		53619674	-1	tier1	-	no_errors	ENST00000243643	ensembl	human	known	74_37	missense	54.24	27	32	SNP	0.132	A	A	53619674	C	A	53619674	3	1	110	1	0	0	0	0	1	0	0	0	17940	855	30	3	1647	3	ZNF415	19	53619674	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	699933	53619674	5509309	262	30065											
VN1R4	317703	genome.wustl.edu	37	chr19	53770337	53770337	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctgctgacccagagcatGagccccagacacaacacatc	13	4	9	15	0	0	4	0	2	0	2	1	5	0	4	3	0	5	3	3	0	1	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:53770337G>C	ENST00000311170.4	-	1	635	c.582C>G	c.(580-582)ctC>ctG	p.L194L	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	194					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CCCAGAGCATGAGCCCCAGAC	0.537										HNSCC(26;0.072)																																							0													48	48	48					19																	53770337		2198	4300	6498	SO:0001819	synonymous_variant	0			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"Vomeronasal receptors / Type 1", "GPCR / Unclassified : Vomeronasal receptors, type 1"	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.582C>G	19.37:g.53770337G>C			Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Silent	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.L194	ENST00000311170.4	37	c.582	CCDS33099.1	19																																																																																			VN1R4	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000228567		0.537	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R4	HGNC	protein_coding	OTTHUMT00000464287.1		0	55	0	G	NM_173857		53770337	-1			no_errors	ENST00000311170	ensembl	human	known	74_37	silent	5.43	87	5	SNP	0.962	C	C	53770337	G	C	53770337	2	2	110	1	0	0	0	0	0	0	0	1	17229	1277	45	5		5	VN1R4	19	53770337	Silent	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	150663	53770337	5358646	263	30066											
LILRB1	10859	genome.wustl.edu	37	chr19	55144634	55144634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagatcaacgtaccaatctCaaaaataccaggctgaattc	17	9	5	10	1	2	2	2	1	1	1	4	2	2	2	2	1	3	2	2	1	8	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:55144634C>G	ENST00000396331.1	+	8	1483	c.1126C>G	c.(1126-1128)Caa>Gaa	p.Q376E	LILRB1_ENST00000427581.2_Missense_Mutation_p.Q412E|LILRB1_ENST00000396332.4_Missense_Mutation_p.Q376E|LILRB1_ENST00000396327.3_Missense_Mutation_p.Q376E|LILRB1_ENST00000396315.1_Missense_Mutation_p.Q376E|LILRB1_ENST00000324602.7_Missense_Mutation_p.Q376E|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q376E|LILRB1_ENST00000434867.2_Missense_Mutation_p.Q376E|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q376E|LILRB1_ENST00000396321.2_Missense_Mutation_p.Q376E|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.Q376E	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	376	Ig-like C2-type 4.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTACCAATCTCAAAAATACCA	0.552										HNSCC(37;0.09)																																							0													118	128	125					19																	55144634		2203	4300	6503	SO:0001583	missense	0			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1126C>G	19.37:g.55144634C>G	ENSP00000379622:p.Gln376Glu		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q376E	ENST00000396331.1	37	c.1126	CCDS42617.1	19	.	.	.	.	.	.	.	.	.	.	C	1.344	-0.593404	0.03771	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.02890	4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12;4.12	2.08	-4.09	0.03951	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	7.226840	0.00881	N	0.002135	T	0.03305	0.0096	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B	0.26845	0.021;0.026;0.161;0.001;0.019	B;B;B;B;B	0.29440	0.045;0.062;0.102;0.007;0.102	T	0.43458	-0.9390	10	0.33141	T	0.24	.	4.6663	0.12668	0.0:0.4993:0.3216:0.1792	.	376;376;376;376;376	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	E	376;376;376;376;376;376;376;376;412;376;376	ENSP00000379614:Q376E;ENSP00000391514:Q376E;ENSP00000409968:Q376E;ENSP00000379622:Q376E;ENSP00000379618:Q376E;ENSP00000315997:Q376E;ENSP00000405243:Q376E;ENSP00000379623:Q376E;ENSP00000395004:Q412E;ENSP00000379610:Q376E;ENSP00000379608:Q376E	ENSP00000315997:Q376E	Q	+	1	0	LILRB1	59836446	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.754000	0.01816	-0.345000	0.08325	0.205000	0.17691	CAA	LILRB1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000104972		0.552	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB1	HGNC	protein_coding	OTTHUMT00000140796.4	-	0	66	0	C			55144634	1	tier1	-	no_errors	ENST00000324602	ensembl	human	known	74_37	missense	6.10	77	5	SNP	0.000	G	G	55144634	C	G	55144634	3	3	110	1	0	0	0	0	1	0	0	0	8819	827	29	5	1148	5	LILRB1	19	55144634	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	1374297	55144634	3984349	264	30067											
SUV420H2	84787	genome.wustl.edu	37	chr19	55858816	55858816	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggcggtgaagagctgtGacaggccggacggggaggcc	7	5	20	9	4	0	3	0	2	0	1	1	5	0	5	2	7	1	1	2	7	1	0	rs557988704	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:55858816G>T	ENST00000255613.3	+	9	1636	c.1388G>T	c.(1387-1389)tGa>tTa	p.*463L		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	0					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GAAGAGCTGTGACAGGCCGGA	0.667																																																	0													9	9	9					19																	55858816		1968	3866	5834	SO:0001578	stop_lost	0			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"Chromatin-modifying enzymes / K-methyltransferases"	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.1388G>T	19.37:g.55858816G>T	ENSP00000255613:p.*463Leuext*33		Q8WZ10|Q9BRZ6	Nonstop_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.*463L	ENST00000255613.3	37	c.1388	CCDS12922.1	19	.	.	.	.	.	.	.	.	.	.	g	0.586	-0.835040	0.02713	.	.	ENSG00000133247	ENST00000255613	.	.	.	3.14	3.14	0.36123	.	.	.	.	.	.	.	.	.	.	.	0.21915	N	0.999477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3118	0.21169	0.1344:0.0:0.8656:0.0	.	.	.	.	L	463	.	.	X	+	2	2	SUV420H2	60550628	0.773000	0.28580	0.075000	0.20258	0.033000	0.12548	2.405000	0.44548	2.066000	0.61787	0.563000	0.77884	TGA	SUV420H2	-	NULL	ENSG00000133247		0.667	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV420H2	HGNC	protein_coding	OTTHUMT00000318309.2	-	0	17	0	G	NM_032701		55858816	1	tier1	-	no_errors	ENST00000255613	ensembl	human	known	74_37	nonstop	66.67	4	8	SNP	0.019	T	T	55858816	G	T	55858816	4	4	110	1	0	0	0	0	0	0	0	0	15462	1285	45	3	1418	3	SUV420H2	19	55858816	Nonstop_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	714182	55858816	3270167	265	30068											
ZNF551	90233	genome.wustl.edu	37	chr19	58198238	58198238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctactccaacacgaagccActcccagtggtgaggagcca	12	5	9	15	1	0	1	0	1	0	0	2	3	2	2	5	2	4	0	5	2	3	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr19:58198238A>G	ENST00000282296.5	+	3	780	c.595A>G	c.(595-597)Act>Gct	p.T199A	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.T183A|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACACGAAGCCACTCCCAGTGG	0.493																																																	0													52	56	54					19																	58198238		2203	4300	6503	SO:0001583	missense	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.595A>G	19.37:g.58198238A>G	ENSP00000282296:p.Thr199Ala		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T199A	ENST00000282296.5	37	c.595	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	A	4.404	0.074629	0.08485	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	1.92	-0.371	0.12525	Zinc finger, C2H2 (1);	.	.	.	.	T	0.38639	0.1048	L	0.60067	1.865	0.09310	N	1	B	0.19706	0.038	B	0.18561	0.022	T	0.39722	-0.9600	8	0.66056	D	0.02	.	3.7402	0.08527	0.3683:0.4735:0.1582:0.0	.	199	Q7Z340	ZN551_HUMAN	A	199;183;93	.	ENSP00000282296:T183A	T	+	1	0	ZNF551	62890050	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.124000	0.01318	-0.174000	0.10743	0.454000	0.30748	ACT	ZNF551	-	pfscan_Znf_C2H2	ENSG00000204519		0.493	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	-	0	18	0	A	NM_138347		58198238	1	tier1	-	no_errors	ENST00000282296	ensembl	human	known	74_37	missense	66.67	8	16	SNP	0.000	G	G	58198238	A	G	58198238	3	3	110	1	0	0	0	0	1	0	0	0	18031	159	6	4	557	4	ZNF551	19	58198238	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	2339422	58198238	930745	266	30069											
TASP1	55617	genome.wustl.edu	37	chr20	13539707	13539707	+	Missense_Mutation	SNP	C	C	A																															gcataaaatctgtgtccaccCtttctgccagctctagtttc																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr20:13539707C>A	ENST00000337743.4	-	8	743	c.623G>T	c.(622-624)aGg>aTg	p.R208M	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	208					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TGTGTCCACCCTTTCTGCCAG	0.289																																																	0													172	169	170					20																	13539707		2203	4300	6503	SO:0001583	missense	0			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.623G>T	20.37:g.13539707C>A	ENSP00000338624:p.Arg208Met		B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	pfam_Peptidase_T2	p.R208M	ENST00000337743.4	37	c.623	CCDS13116.1	20	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238547	0.39598	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.89196	-2.48;-2.48	5.64	4.7	0.59300	.	0.186388	0.56097	D	0.000029	D	0.83751	0.5322	L	0.52126	1.63	0.80722	D	1	B;B	0.32203	0.36;0.235	B;B	0.29176	0.077;0.099	T	0.81479	-0.0914	10	0.48119	T	0.1	-10.8003	8.5722	0.33576	0.0:0.8267:0.0:0.1733	.	208;185	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	M	185;208;185	ENSP00000338624:R208M;ENSP00000400580:R185M	ENSP00000338624:R208M	R	-	2	0	TASP1	13487707	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.929000	0.48916	1.379000	0.46325	0.591000	0.81541	AGG	TASP1	-	pfam_Peptidase_T2	ENSG00000089123		0.289	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	-	0	38	0	C	NM_017714		13539707	-1	tier1	-	no_errors	ENST00000337743	ensembl	human	known	74_37	missense	86.21	4	25	SNP	1.000	A	A	13539707	C	A	13539707	3	1	110	1	0	0	0	0	1	0	0	0	15636	681	24	3	667	3	TASP1	20	13539707	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09		13539707	49485813	267	30070	110	2									
TASP1	55617	genome.wustl.edu	37	chr20	13539717	13539717	+	Missense_Mutation	SNP	G	G	C																															tgtgtccaccctttctgccaGctctagtttcctcttgtttc																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr20:13539717G>C	ENST00000337743.4	-	8	733	c.613C>G	c.(613-615)Ctg>Gtg	p.L205V	TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	205					positive regulation of transcription, DNA-templated (GO:0045893)		threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						CTTTCTGCCAGCTCTAGTTTC	0.299																																																	0													169	165	167					20																	13539717		2203	4300	6503	SO:0001583	missense	0			AK000219	CCDS13116.1	20p12	2005-10-15	2005-10-15	2005-10-15	ENSG00000089123	ENSG00000089123	3.4.25.-		15859	protein-coding gene	gene with protein product		608270	"chromosome 20 open reading frame 13"	C20orf13		14636557	Standard	XR_430268		Approved	FLJ20212, dJ585I14.2	uc002woi.3	Q9H6P5	OTTHUMG00000031904	ENST00000337743.4:c.613C>G	20.37:g.13539717G>C	ENSP00000338624:p.Leu205Val		B7Z690|B7Z963|Q5TDU9|Q9BQN0|Q9NQ08|Q9NTS6|Q9NXJ2	Missense_Mutation	SNP	pfam_Peptidase_T2	p.L205V	ENST00000337743.4	37	c.613	CCDS13116.1	20	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141309	0.57044	.	.	ENSG00000089123	ENST00000378157;ENST00000337743;ENST00000455532	D;D	0.92647	-3.08;-2.86	5.64	4.67	0.58626	.	0.069884	0.64402	D	0.000014	D	0.88522	0.6459	L	0.40543	1.245	0.80722	D	1	P;B	0.37423	0.594;0.168	B;B	0.39876	0.312;0.179	D	0.85652	0.1283	10	0.25106	T	0.35	-2.1754	13.4684	0.61268	0.0:0.0:0.8421:0.1579	.	205;182	Q9H6P5;Q5JWM4	TASP1_HUMAN;.	V	182;205;182	ENSP00000338624:L205V;ENSP00000400580:L182V	ENSP00000338624:L205V	L	-	1	2	TASP1	13487717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.748000	0.47483	1.335000	0.45486	0.591000	0.81541	CTG	TASP1	-	pfam_Peptidase_T2	ENSG00000089123		0.299	TASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TASP1	HGNC	protein_coding	OTTHUMT00000078041.2	-	0	39	0	G	NM_017714		13539717	-1	tier1	-	no_errors	ENST00000337743	ensembl	human	known	74_37	missense	82.76	5	24	SNP	1.000	C	C	13539717	G	C	13539717	3	2	110	1	0	0	0	0	1	0	0	0	15636	962	34	5	677	5	TASP1	20	13539717	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	10	13539717	49485803	268	30071	110	2									
NCOA3	8202	genome.wustl.edu	37	chr20	46256687	46256687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaatcttgtatgatctGtgtggcacgccgcattacta	8	15	9	9	2	2	1	0	1	2	0	2	1	2	1	1	1	2	4	1	1	4	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr20:46256687G>T	ENST00000371998.3	+	8	934	c.743G>T	c.(742-744)tGt>tTt	p.C248F	NCOA3_ENST00000341724.6_Missense_Mutation_p.C248F|NCOA3_ENST00000497292.1_3'UTR|NCOA3_ENST00000371997.3_Missense_Mutation_p.C248F|NCOA3_ENST00000372004.3_Missense_Mutation_p.C248F			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	248					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGTATGATCTGTGTGGCACGC	0.358																																																	0													140	140	140					20																	46256687		2203	4300	6503	SO:0001583	missense	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.743G>T	20.37:g.46256687G>T	ENSP00000361066:p.Cys248Phe		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.C248F	ENST00000371998.3	37	c.743	CCDS13407.1	20	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924289	0.92319	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.03094	4.06;4.28;4.28;4.05	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.80764	0.986;0.971;0.986;0.986;0.994;0.986	T	0.00064	-1.2152	10	0.87932	D	0	-18.5907	19.8905	0.96928	0.0:0.0:1.0:0.0	.	248;248;252;248;248;248	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	F	248;248;248;248;248;14	ENSP00000342123:C248F;ENSP00000361073:C248F;ENSP00000361066:C248F;ENSP00000361065:C248F	ENSP00000345671:C248F	C	+	2	0	NCOA3	45690094	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	TGT	NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.358	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1	-	0	22	0	G	NM_006534		46256687	1	tier1	-	no_errors	ENST00000371998	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	T	T	46256687	G	T	46256687	3	4	110	1	0	0	0	0	1	0	0	0	10269	1377	48	3	765	3	NCOA3	20	46256687	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	32716970	46256687	16768833	269	30072											
LAMA5	3911	genome.wustl.edu	37	chr20	60895671	60895671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgctctgctgctccagcaCctccagctgctgtgccgtct	3	12	10	16	1	2	0	0	0	2	0	4	0	4	0	4	0	7	6	4	0	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr20:60895671C>A	ENST00000252999.3	-	50	6769	c.6703G>T	c.(6703-6705)Gtg>Ttg	p.V2235L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2235	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGCTCCAGCACCTCCAGCTGC	0.716																																																	0													11	15	13					20																	60895671		2159	4265	6424	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6703G>T	20.37:g.60895671C>A	ENSP00000252999:p.Val2235Leu		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.V2235L	ENST00000252999.3	37	c.6703	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	-	5.509	0.278883	0.10458	.	.	ENSG00000130702	ENST00000252999	T	0.09255	3.0	4.23	-5.61	0.02489	Laminin I (1);	1.458410	0.04662	N	0.408983	T	0.08582	0.0213	L	0.29908	0.895	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.37526	-0.9702	10	0.27785	T	0.31	.	12.5698	0.56331	0.0:0.7768:0.0:0.2232	.	2235	O15230	LAMA5_HUMAN	L	2235	ENSP00000252999:V2235L	ENSP00000252999:V2235L	V	-	1	0	LAMA5	60329066	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.134000	0.03228	-0.787000	0.04510	-0.293000	0.09583	GTG	LAMA5	-	pfam_Laminin_I	ENSG00000130702		0.716	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0	22	0	C	NM_005560		60895671	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	23.53	13	4	SNP	0.000	A	A	60895671	C	A	60895671	3	1	110	1	0	0	0	0	1	0	0	0	8637	507	18	3	4508	3	LAMA5	20	60895671	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	14638984	60895671	2129849	270	30073											
BTG3	10950	genome.wustl.edu	37	chr21	18981448	18981448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaagacaacggcagcAatttcattcttcattttttt	15	14	5	7	1	3	2	2	0	1	2	3	2	3	2	0	1	2	2	0	1	5	6			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr21:18981448A>G	ENST00000348354.6	-	2	271	c.15T>C	c.(13-15)atT>atC	p.I5I	BTG3_ENST00000464058.1_5'UTR|BTG3_ENST00000339775.6_Silent_p.I5I	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	5					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		CAACGGCAGCAATTTCATTCT	0.348																																																	0													65	66	66					21																	18981448		2203	4300	6503	SO:0001819	synonymous_variant	0			D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.15T>C	21.37:g.18981448A>G			D3DSC4|Q53XV1|Q96ET7	Silent	SNP	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.I5	ENST00000348354.6	37	c.15	CCDS13569.1	21																																																																																			BTG3	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn	ENSG00000154640		0.348	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTG3	HGNC	protein_coding	OTTHUMT00000158196.1	-	0	34	0	A	NM_006806		18981448	-1	tier1	-	no_errors	ENST00000339775	ensembl	human	known	74_37	silent	44.19	24	19	SNP	1.000	G	G	18981448	A	G	18981448	2	3	110	1	0	0	0	0	0	0	0	1	1559	126	5	4		4	BTG3	21	18981448	Silent	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09		18981448	29148447	271	30074											
TFF3	7033	genome.wustl.edu	37	chr21	43735501	43735501	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccaccgtgggctccGggacgcagctcaggactcgc	7	5	13	16	4	1	1	1	1	0	0	3	3	2	3	4	3	1	3	4	3	0	0	rs561102941		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr21:43735501G>C	ENST00000518498.1	-	1	260	c.26C>G	c.(25-27)cCg>cGg	p.P9R	TFF3_ENST00000489676.1_5'Flank|TFF3_ENST00000291525.10_Missense_Mutation_p.P45R			Q07654	TFF3_HUMAN	trefoil factor 3 (intestinal)	0					defense response (GO:0006952)|digestion (GO:0007586)|response to peptide hormone (GO:0043434)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						CGTGGGCTCCGGGACGCAGCT	0.612																																																	0													147	123	131					21																	43735501		2203	4300	6503	SO:0001583	missense	0			AF432265	CCDS33565.1, CCDS33565.2	21q22.3	2006-05-16			ENSG00000160180	ENSG00000160180			11757	protein-coding gene	gene with protein product		600633				7718582, 9043862	Standard	NM_003226		Approved	HITF, ITF	uc002zav.3	Q07654	OTTHUMG00000086798	ENST00000518498.1:c.26C>G	21.37:g.43735501G>C	ENSP00000430690:p.Pro9Arg		E9PBB5|Q96NX0|Q9UDA5	Missense_Mutation	SNP	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata	p.P45R	ENST00000518498.1	37	c.134	CCDS33565.2	21	.	.	.	.	.	.	.	.	.	.	g	9.934	1.215522	0.22373	.	.	ENSG00000160180	ENST00000518498;ENST00000291525	T;T	0.54675	0.79;0.56	3.86	-3.32	0.04973	.	3.117360	0.01627	U	0.023332	T	0.29652	0.0740	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.04551	-1.0943	6	.	.	.	.	0.7931	0.01061	0.2778:0.3354:0.2171:0.1698	.	.	.	.	R	9;45	ENSP00000430690:P9R;ENSP00000291525:P45R	.	P	-	2	0	TFF3	42608570	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.720000	0.25896	-0.355000	0.08199	-0.119000	0.15052	CCG	TFF3	-	NULL	ENSG00000160180		0.612	TFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFF3	HGNC	protein_coding	OTTHUMT00000195358.2	-	0	88	0	G	NM_003226		43735501	-1	tier1	-	no_errors	ENST00000291525	ensembl	human	known	74_37	missense	54.67	34	41	SNP	0.000	C	C	43735501	G	C	43735501	3	2	110	1	0	0	0	0	1	0	0	0	15852	1116	39	5	270	5	TFF3	21	43735501	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	24754053	43735501	4394394	272	30075											
C21orf29	54084	genome.wustl.edu	37	chr21	45950950	45950950	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaggcctttggctctcctCcggctgccgacgaagaatcg	8	8	11	14	4	1	1	0	0	1	1	4	3	2	1	4	3	2	2	4	3	3	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr21:45950950C>A	ENST00000323084.4	-	4	674	c.609G>T	c.(607-609)cgG>cgT	p.R203R	TSPEAR_ENST00000397916.1_Silent_p.R135R	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	203	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGGCTCTCCTCCGGCTGCCGA	0.587																																																	0													73	59	64					21																	45950950		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"chromosome 21 open reading frame 29", "deafness, autosomal recessive 98"	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.609G>T	21.37:g.45950950C>A				Silent	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.R203	ENST00000323084.4	37	c.609	CCDS13712.1	21																																																																																			TSPEAR	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000175894		0.587	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0	44	0	C	NM_144991		45950950	-1	tier1	-	no_errors	ENST00000323084	ensembl	human	known	74_37	silent	33.33	38	19	SNP	0.995	A	A	45950950	C	A	45950950	2	1	110	1	0	0	0	0	0	0	0	1	2131	842	30	3		3	C21orf29	21	45950950	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	2215449	45950950	2178945	273	30076											
PCNT	5116	genome.wustl.edu	37	chr21	47775526	47775526	+	Nonsense_Mutation	SNP	G	G	T																															agtggcgtctggaaccctctGaagggcacagccaaggtggg																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr21:47775526G>T	ENST00000359568.5	+	12	2028	c.1921G>T	c.(1921-1923)Gaa>Taa	p.E641*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	641	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAACCCTCTGAAGGGCACAG	0.652																																																	0													39	34	35					21																	47775526		2203	4300	6503	SO:0001587	stop_gained	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1921G>T	21.37:g.47775526G>T	ENSP00000352572:p.Glu641*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.E641*	ENST00000359568.5	37	c.1921	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	36	5.973729	0.97162	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	.	.	.	3.91	3.02	0.34903	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	7.5789	0.27952	0.1241:0.0:0.8759:0.0	.	.	.	.	X	641;628	.	ENSP00000338675:E628X	E	+	1	0	PCNT	46599954	0.016000	0.18221	0.001000	0.08648	0.003000	0.03518	1.838000	0.39211	0.748000	0.32831	0.491000	0.48974	GAA	PCNT	-	NULL	ENSG00000160299		0.652	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	29	0	G	NM_006031		47775526	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	nonsense	51.61	15	16	SNP	0.002	T	T	47775526	G	T	47775526	4	4	110	1	0	0	0	0	0	1	0	0	11629	1291	45	3	1967	3	PCNT	21	47775526	Nonsense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	1824576	47775526	354369	274	30077	111	2									
PCNT	5116	genome.wustl.edu	37	chr21	47775529	47775529	+	Missense_Mutation	SNP	G	G	A																															ggcgtctggaaccctctgaaGggcacagccaaggtgggccc																										TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr21:47775529G>A	ENST00000359568.5	+	12	2031	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	642	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCCTCTGAAGGGCACAGCCA	0.647																																																	0													38	33	35					21																	47775529		2203	4300	6503	SO:0001583	missense	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"kendrin", "Seckel syndrome 4"	605925	"pericentrin 2 (kendrin)"	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1924G>A	21.37:g.47775529G>A	ENSP00000352572:p.Gly642Arg		O43152|Q7Z7C9	Missense_Mutation	SNP	pfam_PACT_domain	p.G642R	ENST00000359568.5	37	c.1924	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	4.075	0.011883	0.07912	.	.	ENSG00000160299	ENST00000359568;ENST00000337772	T	0.01359	4.98	4.19	2.2	0.27929	.	.	.	.	.	T	0.01320	0.0043	L	0.36672	1.1	0.09310	N	1	B;B	0.15141	0.007;0.012	B;B	0.13407	0.009;0.004	T	0.48468	-0.9033	9	0.17369	T	0.5	.	5.1606	0.15058	0.1205:0.3007:0.5788:0.0	.	524;642	O95613-2;O95613	.;PCNT_HUMAN	R	642;629	ENSP00000352572:G642R	ENSP00000338675:G629R	G	+	1	0	PCNT	46599957	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	1.166000	0.31834	0.747000	0.32809	0.491000	0.48974	GGG	PCNT	-	NULL	ENSG00000160299		0.647	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	-	0	26	0	G	NM_006031		47775529	1	tier1	-	no_errors	ENST00000359568	ensembl	human	known	74_37	missense	46.67	16	14	SNP	0.000	A	A	47775529	G	A	47775529	3	1	110	1	0	0	0	0	1	0	0	0	11629	1000	35	3	1970	3	PCNT	21	47775529	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3	47775529	354366	275	30078	111	2									
CYTSA	23384	genome.wustl.edu	37	chr22	24718230	24718230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagctgatttacagcagattAcccaggaactgaatagtgaa	15	10	9	7	0	0	4	0	3	0	1	0	5	0	5	1	1	5	2	1	1	7	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:24718230A>G	ENST00000314328.9	+	5	1567	c.1282A>G	c.(1282-1284)Acc>Gcc	p.T428A	SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.T428A|SPECC1L_ENST00000437398.1_Missense_Mutation_p.T428A|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000541492.1_Missense_Mutation_p.T428A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	428					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						ACAGCAGATTACCCAGGAACT	0.453																																																	0													88	95	93					22																	24718230		2203	4300	6503	SO:0001583	missense	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"cytokinesis and spindle organization A", "cytospin A"	614140	"SPECC1-like"			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1282A>G	22.37:g.24718230A>G	ENSP00000325785:p.Thr428Ala		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain	p.T428A	ENST00000314328.9	37	c.1282	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	A	15.04	2.715753	0.48622	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	4.97	3.87	0.44632	.	0.044296	0.85682	D	0.000000	T	0.08935	0.0221	L	0.51422	1.61	0.54753	D	0.999987	D;B	0.61080	0.989;0.128	P;B	0.56434	0.798;0.039	T	0.10245	-1.0638	10	0.42905	T	0.14	-27.3552	10.813	0.46557	0.8589:0.0:0.0:0.1411	.	428;428	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	A	456;428;428;428;428	ENSP00000393363:T428A;ENSP00000405671:T428A;ENSP00000325785:T428A;ENSP00000439633:T428A	ENSP00000325785:T428A	T	+	1	0	SPECC1L	23048230	1.000000	0.71417	0.995000	0.50966	0.637000	0.38172	4.289000	0.59013	2.007000	0.58848	0.402000	0.26972	ACC	SPECC1L	-	NULL	ENSG00000100014		0.453	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	-	0	26	0	A	NM_015330		24718230	1	tier1	-	no_errors	ENST00000314328	ensembl	human	known	74_37	missense	58.82	14	20	SNP	1.000	G	G	24718230	A	G	24718230	3	3	110	1	0	0	0	0	1	0	0	0	4218	391	14	4	1292	4	CYTSA	22	24718230	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09		24718230	26586336	276	30079											
MTMR3	8897	genome.wustl.edu	37	chr22	30414035	30414035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacccagccccaggcacCagccctgatgatccccccct	8	5	6	22	0	0	2	0	2	0	0	1	2	1	2	9	1	3	1	9	1	1	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:30414035C>T	ENST00000401950.2	+	16	2136	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	MTMR3_ENST00000351488.3_Silent_p.T598T|MTMR3_ENST00000333027.3_Silent_p.T598T|MTMR3_ENST00000323630.5_Silent_p.T462T|MTMR3_ENST00000406629.1_Silent_p.T598T|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	598					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCCAGGCACCAGCCCTGATG	0.627																																																	0													92	70	77					22																	30414035		2203	4300	6503	SO:0001819	synonymous_variant	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1794C>T	22.37:g.30414035C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.T598	ENST00000401950.2	37	c.1794	CCDS13870.1	22																																																																																			MTMR3	-	NULL	ENSG00000100330		0.627	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0	64	0	C	NM_021090		30414035	1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	silent	28.30	38	15	SNP	0.993	T	T	30414035	C	T	30414035	2	4	110	1	0	0	0	0	0	0	0	1	9983	581	21	3		3	MTMR3	22	30414035	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	5695805	30414035	20890531	277	30080											
BPIL2	254240	genome.wustl.edu	37	chr22	32843205	32843205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggaatactcacaaaagtGgagactcgaacccccagtct	14	7	9	11	1	2	1	1	0	1	1	3	4	2	2	2	2	2	0	2	2	5	1	rs141691558		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:32843205G>T	ENST00000397452.1	-	4	478	c.368C>A	c.(367-369)cCa>cAa	p.P123Q	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.P123Q			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	123						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.P123L(1)									TCACAAAAGTGGAGACTCGAA	0.453																																																	1	Substitution - Missense(1)	skin(1)											129	111	117					22																	32843205		2203	4300	6503	SO:0001583	missense	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"BPI fold containing"	16503	protein-coding gene	gene with protein product		614109	"bactericidal/permeability-increasing protein-like 2"	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.368C>A	22.37:g.32843205G>T	ENSP00000380594:p.Pro123Gln		A2RRF1	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P123Q	ENST00000397452.1	37	c.368	CCDS13906.1	22	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680101	0.47886	.	.	ENSG00000184459	ENST00000397452;ENST00000300399	T;T	0.04706	3.57;3.57	5.87	4.86	0.63082	.	0.127438	0.53938	D	0.000047	T	0.17534	0.0421	M	0.80028	2.48	0.80722	D	1	D	0.58970	0.984	P	0.62184	0.899	T	0.03344	-1.1046	10	0.25751	T	0.34	-8.2249	11.4778	0.50308	0.083:0.0:0.917:0.0	.	123	Q8NFQ6	BPIFC_HUMAN	Q	123	ENSP00000380594:P123Q;ENSP00000300399:P123Q	ENSP00000300399:P123Q	P	-	2	0	BPIFC	31173205	0.988000	0.35896	0.985000	0.45067	0.967000	0.64934	3.078000	0.50096	1.626000	0.50381	0.655000	0.94253	CCA	BPIFC	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000184459		0.453	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	-	0	62	0	G	NM_174932		32843205	-1	tier1	-	no_errors	ENST00000300399	ensembl	human	known	74_37	missense	47.76	35	32	SNP	0.998	T	T	32843205	G	T	32843205	3	4	110	1	0	0	0	0	1	0	0	0	1496	1348	47	3	1207	3	BPIL2	22	32843205	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	2429170	32843205	18461361	278	30081											
TMPRSS6	164656	genome.wustl.edu	37	chr22	37485698	37485698	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgccagcgtccactcCagccggagtttgagcatgag	8	8	11	14	2	1	2	0	2	1	0	3	3	3	3	4	1	4	2	4	1	0	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:37485698C>A	ENST00000346753.3	-	7	899	c.783G>T	c.(781-783)ctG>ctT	p.L261L	TMPRSS6_ENST00000406856.1_Silent_p.L252L|TMPRSS6_ENST00000406725.1_Silent_p.L252L|TMPRSS6_ENST00000381792.2_Silent_p.L252L|TMPRSS6_ENST00000442782.2_Silent_p.L261L	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	261	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCGTCCACTCCAGCCGGAGTT	0.677																																																	0													25	26	26					22																	37485698		2203	4300	6503	SO:0001819	synonymous_variant	0			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"Serine peptidases / Transmembrane"	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.783G>T	22.37:g.37485698C>A			B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.L252	ENST00000346753.3	37	c.756	CCDS13941.1	22																																																																																			TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom	ENSG00000187045		0.677	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	-	0	97	0	C	NM_153609		37485698	-1	tier1	-	no_errors	ENST00000381792	ensembl	human	known	74_37	silent	49.32	37	36	SNP	0.869	A	A	37485698	C	A	37485698	2	1	110	1	0	0	0	0	0	0	0	1	16298	581	21	3		3	TMPRSS6	22	37485698	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	4642493	37485698	13818868	279	30082											
NOL12	79159	genome.wustl.edu	37	chr22	38083951	38083951	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccacaagcggaaggtcGagcgaaagaaggcagccatt	13	5	13	10	3	0	1	0	0	0	1	2	4	1	2	2	3	3	2	2	3	4	2	rs376416869		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:38083951G>T	ENST00000359114.4	+	2	188	c.118G>T	c.(118-120)Gag>Tag	p.E40*	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	40						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GCGGAAGGTCGAGCGAAAGAA	0.572																																																	0													29	25	27					22																	38083951		2197	4283	6480	SO:0001587	stop_gained	0			Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.118G>T	22.37:g.38083951G>T	ENSP00000352021:p.Glu40*			Nonsense_Mutation	SNP	pfam_Nucleolar_protein_12	p.E40*	ENST00000359114.4	37	c.118	CCDS13955.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.259694	0.97421	.	.	ENSG00000256872	ENST00000359114	.	.	.	5.63	5.63	0.86233	.	0.049300	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.7876	17.8572	0.88769	0.0:0.0:1.0:0.0	.	.	.	.	X	40	.	ENSP00000352021:E40X	E	+	1	0	Z83844.2	36413897	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.832000	0.75329	2.644000	0.89710	0.643000	0.83706	GAG	NOL12	-	pfam_Nucleolar_protein_12	ENSG00000100101		0.572	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL12	HGNC	protein_coding	OTTHUMT00000319476.1	-	0	36	0	G	NM_024313		38083951	1	tier1	-	no_errors	ENST00000359114	ensembl	human	known	74_37	nonsense	45.45	30	25	SNP	1.000	T	T	38083951	G	T	38083951	4	4	110	1	0	0	0	0	0	1	0	0	10561	1059	37	2	124	2	NOL12	22	38083951	Nonsense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	598253	38083951	13220615	280	30083											
PHF21B	112885	genome.wustl.edu	37	chr22	45309806	45309806	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgcgactctgccgtgctctCgggctgcgtctgcacttgag	3	10	13	15	5	3	1	0	1	3	0	4	2	3	1	2	1	4	3	2	1	0	1	rs368576969		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:45309806C>G	ENST00000313237.5	-	5	877	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	PHF21B_ENST00000396103.3_Missense_Mutation_p.E201Q|PHF21B_ENST00000404079.2_Missense_Mutation_p.E189Q|PHF21B_ENST00000447824.3_Missense_Mutation_p.E189Q|PHF21B_ENST00000403565.1_Missense_Mutation_p.E39Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	243							zinc ion binding (GO:0008270)	p.E243*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCCGTGCTCTCGGGCTGCGTC	0.627																																																	1	Substitution - Nonsense(1)	lung(1)											82	82	82					22																	45309806		2203	4300	6503	SO:0001583	missense	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"Zinc fingers, PHD-type"	25161	protein-coding gene	gene with protein product			"PHD finger protein 4"	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.727G>C	22.37:g.45309806C>G	ENSP00000324403:p.Glu243Gln		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E243Q	ENST00000313237.5	37	c.727	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994424	0.74703	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269;ENST00000420689	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.7	3.65	0.41850	.	0.097338	0.42821	D	0.000651	T	0.43144	0.1234	L	0.50333	1.59	0.33299	D	0.564561	B;B;B;P;B	0.37824	0.23;0.398;0.277;0.609;0.145	B;B;B;B;B	0.33799	0.09;0.17;0.082;0.157;0.055	T	0.56860	-0.7909	10	0.25751	T	0.34	-18.0576	13.3834	0.60783	0.0:0.9223:0.0:0.0777	.	189;201;189;243;39	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	Q	39;243;201;189;189;39;189	ENSP00000385053:E39Q;ENSP00000324403:E243Q;ENSP00000379410:E201Q;ENSP00000385105:E189Q;ENSP00000388619:E189Q;ENSP00000401091:E39Q;ENSP00000401294:E189Q	ENSP00000324403:E243Q	E	-	1	0	PHF21B	43688470	0.995000	0.38212	0.991000	0.47740	0.958000	0.62258	2.269000	0.43346	2.437000	0.82529	0.655000	0.94253	GAG	PHF21B	-	NULL	ENSG00000056487		0.627	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0	68	0	C	NM_138415		45309806	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	37.63	58	35	SNP	0.992	G	G	45309806	C	G	45309806	3	3	110	1	0	0	0	0	1	0	0	0	11873	893	31	5	904	5	PHF21B	22	45309806	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	7225855	45309806	5994760	281	30084											
RIBC2	26150	genome.wustl.edu	37	chr22	45821879	45821879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaaaaagcaagaacaagagGacaacttggccgagatcacc	19	3	10	9	1	1	4	1	0	0	4	1	6	1	5	2	2	3	1	2	2	6	1			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:45821879G>C	ENST00000342894.3	+	5	922	c.508G>C	c.(508-510)Gac>Cac	p.D170H	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.D238H			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	170						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGAACAAGAGGACAACTTGGC	0.577																																																	0													147	134	139					22																	45821879		2203	4300	6503	SO:0001583	missense	0			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.508G>C	22.37:g.45821879G>C	ENSP00000342529:p.Asp170His		Q6ICD0|Q9Y413	Missense_Mutation	SNP	pfam_RIB43A	p.D238H	ENST00000342894.3	37	c.712		22	.	.	.	.	.	.	.	.	.	.	G	17.43	3.386617	0.61956	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.26660	1.72;1.72	4.53	4.53	0.55603	.	0.320719	0.28983	N	0.013508	T	0.50684	0.1630	.	.	.	0.48087	D	0.999589	D	0.76494	0.999	D	0.69479	0.964	T	0.53114	-0.8484	9	0.48119	T	0.1	-14.0107	17.0274	0.86451	0.0:0.0:1.0:0.0	.	170	Q9H4K1	RIBC2_HUMAN	H	170;238	ENSP00000342529:D170H;ENSP00000444196:D238H	ENSP00000342529:D170H	D	+	1	0	RIBC2	44200543	1.000000	0.71417	0.936000	0.37596	0.328000	0.28507	6.552000	0.73914	2.320000	0.78422	0.655000	0.94253	GAC	RIBC2	-	pfam_RIB43A	ENSG00000128408		0.577	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	HGNC	protein_coding	OTTHUMT00000322250.1	-	0	29	0	G	NM_015653		45821879	1	tier1	-	no_errors	ENST00000538017	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.952	C	C	45821879	G	C	45821879	3	2	110	1	0	0	0	0	1	0	0	0	13398	1174	41	5	729	5	RIBC2	22	45821879	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	512073	45821879	5482687	282	30085											
ATXN10	25814	genome.wustl.edu	37	chr22	46136258	46136258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggttatagatcttttgcGggtgattcatgtagctggaa	8	17	12	4	1	2	2	1	1	1	1	2	3	2	3	0	3	2	3	0	3	4	7			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chr22:46136258G>C	ENST00000252934.5	+	9	1278	c.1013G>C	c.(1012-1014)cGg>cCg	p.R338P	ATXN10_ENST00000381061.4_Missense_Mutation_p.R274P	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	338					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GATCTTTTGCGGGTGATTCAT	0.353																																																	0													130	124	126					22																	46136258		2203	4300	6503	SO:0001583	missense	0			AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"Ataxins"	10549	protein-coding gene	gene with protein product		611150	"spinocerebellar ataxia 10"	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1013G>C	22.37:g.46136258G>C	ENSP00000252934:p.Arg338Pro		A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	pfam_Ataxin-10_domain,superfamily_ARM-type_fold	p.R338P	ENST00000252934.5	37	c.1013	CCDS14070.1	22	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575516	0.45902	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011;ENST00000435026	T;T;T	0.52057	0.73;0.73;0.68	5.92	4.72	0.59763	Armadillo-type fold (1);	0.336545	0.29956	N	0.010766	T	0.60274	0.2256	L	0.58101	1.795	0.44439	D	0.997365	D;D	0.61080	0.989;0.989	P;P	0.58391	0.838;0.838	T	0.62229	-0.6898	10	0.66056	D	0.02	-10.8837	15.0856	0.72148	0.0792:0.0:0.9208:0.0	.	274;338	A6NLC4;Q9UBB4	.;ATX10_HUMAN	P	274;338;341;90	ENSP00000370449:R274P;ENSP00000252934:R338P;ENSP00000391117:R90P	ENSP00000252934:R338P	R	+	2	0	ATXN10	44514922	0.858000	0.29795	0.964000	0.40570	0.033000	0.12548	1.774000	0.38573	2.818000	0.97014	0.655000	0.94253	CGG	ATXN10	-	superfamily_ARM-type_fold	ENSG00000130638		0.353	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN10	HGNC	protein_coding	OTTHUMT00000318142.2	-	0	38	0	G	NM_013236		46136258	1	tier1	-	no_errors	ENST00000252934	ensembl	human	known	74_37	missense	45.61	31	26	SNP	0.869	C	C	46136258	G	C	46136258	3	2	110	1	0	0	0	0	1	0	0	0	1211	1116	39	5	1047	5	ATXN10	22	46136258	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	314379	46136258	5168308	283	30086											
MAGEB6	158809	genome.wustl.edu	37	chrX	26212334	26212334	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgtttcaggctcaaaatAtgatgtggctgccaacggcc	10	10	12	9	1	2	1	2	1	0	0	2	1	2	1	2	4	2	3	2	4	4	2	rs143802048	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:26212334A>C	ENST00000379034.1	+	2	520	c.371A>C	c.(370-372)tAt>tCt	p.Y124S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	124	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCTCAAAATATGATGTGGCT	0.552													.|||	342	0.090596	0.0242	0.0706	3775	,	,		12620	0.0794		0.0646	False		,,,				2504	0.1186																0								C	SER/TYR	21,3809		1,4,15,1626,553	85	77	80		371	-1.5	0	X	dbSNP_134	80	81,6624		6,7,62,2414,1789	no	missense	MAGEB6	NM_173523.2	144	7,11,77,4040,2342	CC,CA,C,AA,A		1.2081,0.5483,0.9682	benign	124/408	26212334	102,10433	2199	4278	6477	SO:0001583	missense	0			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"cancer/testis antigen family 3, member 4"	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.371A>C	X.37:g.26212334A>C	ENSP00000368320:p.Tyr124Ser		Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Y124S	ENST00000379034.1	37	c.371	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.460724	0.00171	0.005483	0.012081	ENSG00000176746	ENST00000379034	T	0.01629	4.72	1.23	-1.47	0.08772	.	.	.	.	.	T	0.00468	0.0015	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42292	-0.9460	9	0.02654	T	1	.	2.6776	0.05084	0.2703:0.469:0.0:0.2607	.	124	Q8N7X4	MAGB6_HUMAN	S	124	ENSP00000368320:Y124S	ENSP00000368320:Y124S	Y	+	2	0	MAGEB6	26122255	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.070000	0.03440	-1.353000	0.02191	-2.567000	0.00172	TAT	MAGEB6	-	pfam_Melanoma_ass_antigen_N	ENSG00000176746		0.552	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	-	0	29	0	A	NM_173523		26212334	1	tier1	rs143802048	no_errors	ENST00000379034	ensembl	human	known	74_37	missense	87.88	4	29	SNP	0.000	C	C	26212334	A	C	26212334	3	2	110	1	0	0	0	0	1	0	0	0	9217	449	16	4	373	4	MAGEB6	23	26212334	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09		26212334	129058226	284	30087											
IL1RAPL1	11141	genome.wustl.edu	37	chrX	29301329	29301329	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctctacgcctgtgtCatcaggtatccctttaattc	7	15	8	11	1	3	0	2	0	1	0	6	0	4	0	2	2	1	1	2	2	3	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:29301329C>A	ENST00000378993.1	+	3	1030	c.357C>A	c.(355-357)gtC>gtA	p.V119V	IL1RAPL1_ENST00000302196.4_Silent_p.V119V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	119	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACGCCTGTGTCATCAGGTATC	0.438																																																	0													75	66	69					X																	29301329		2202	4300	6502	SO:0001819	synonymous_variant	0			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5996	protein-coding gene	gene with protein product		300206	"mental retardation, X-linked 34", "mental retardation, X-linked 21", "mental retardation, X-linked 10"	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.357C>A	X.37:g.29301329C>A			A0AVG4|Q9UJ53	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom	p.V119	ENST00000378993.1	37	c.357	CCDS14218.1	X																																																																																			IL1RAPL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000169306		0.438	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL1	HGNC	protein_coding	OTTHUMT00000056155.1	-	0	17	0	C	NM_014271		29301329	1	tier1	-	no_errors	ENST00000302196	ensembl	human	known	74_37	silent	92.59	2	25	SNP	0.989	A	A	29301329	C	A	29301329	2	1	110	1	0	0	0	0	0	0	0	1	7688	813	29	3		3	IL1RAPL1	23	29301329	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	3088995	29301329	125969231	285	30088											
DMD	1756	genome.wustl.edu	37	chrX	32490336	32490336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcggtgacactaagttgaGgtatggagagtttggtttct	9	14	14	4	1	1	3	0	2	1	1	2	4	1	3	0	4	0	4	0	4	2	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:32490336G>T	ENST00000357033.4	-	22	3100	c.2894C>A	c.(2893-2895)cCt>cAt	p.P965H	DMD_ENST00000378677.2_Missense_Mutation_p.P961H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	965					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTAAGTTGAGGTATGGAGAG	0.433																																																	0													180	153	162					X																	32490336		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2894C>A	X.37:g.32490336G>T	ENSP00000354923:p.Pro965His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.P965H	ENST00000357033.4	37	c.2894	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334567	0.60853	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.50548	0.74;0.74	5.2	5.2	0.72013	.	0.000000	0.34879	U	0.003609	T	0.58032	0.2094	L	0.36672	1.1	0.80722	D	1	D;P;D	0.89917	1.0;0.931;1.0	D;P;D	0.91635	0.999;0.814;0.999	T	0.50906	-0.8772	10	0.14252	T	0.57	.	17.9222	0.88970	0.0:0.0:1.0:0.0	.	957;965;961	P11532-4;P11532;E9PDN5	.;DMD_HUMAN;.	H	957;961;965;965;842	ENSP00000367948:P961H;ENSP00000354923:P965H	ENSP00000354923:P965H	P	-	2	0	DMD	32400257	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	7.361000	0.79497	2.166000	0.68216	0.544000	0.68410	CCT	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0	32	0	G	NM_004006		32490336	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	86.49	5	32	SNP	1.000	T	T	32490336	G	T	32490336	3	4	110	1	0	0	0	0	1	0	0	0	4594	1000	35	3	8638	3	DMD	23	32490336	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	3189007	32490336	122780224	286	30089											
AKAP4	8852	genome.wustl.edu	37	chrX	49958206	49958206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattatgcaggttcttcatGcaagaatcaatcaaatcgga	15	12	7	7	1	4	1	3	0	1	1	5	2	4	2	0	2	2	3	0	2	6	4	rs112225746	byFrequency	TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:49958206G>C	ENST00000376056.2	-	5	1281	c.1131C>G	c.(1129-1131)tgC>tgG	p.C377W	AKAP4_ENST00000376064.3_Missense_Mutation_p.C377W|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.C386W					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGTTCTTCATGCAAGAATCAA	0.453																																																	0													73	62	66					X																	49958206		2203	4300	6503	SO:0001583	missense	0			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"A-kinase anchor proteins"	374	protein-coding gene	gene with protein product	"A-kinase anchor protein 82 kDa", "testis-specific gene HI", "protein kinase A anchoring protein 4", "cancer/testis antigen 99"	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1131C>G	X.37:g.49958206G>C	ENSP00000365224:p.Cys377Trp			Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.C386W	ENST00000376056.2	37	c.1158	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	G	12.10	1.835955	0.32421	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.07567	3.18;3.18;3.18	4.77	2.96	0.34315	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.53938	D	0.000047	T	0.21674	0.0522	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00349	-1.1798	9	.	.	.	-8.2164	7.0604	0.25123	0.2224:0.0:0.7776:0.0	.	386	Q5JQC9	AKAP4_HUMAN	W	377;386;377	ENSP00000365224:C377W;ENSP00000351327:C386W;ENSP00000365232:C377W	.	C	-	3	2	AKAP4	49844946	0.990000	0.36364	0.999000	0.59377	0.952000	0.60782	0.459000	0.21908	0.280000	0.22209	0.468000	0.43344	TGC	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110	ENSG00000147081		0.453	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	-	0	15	0	G	NM_003886		49958206	-1	tier1	-	no_errors	ENST00000358526	ensembl	human	known	74_37	missense	88.89	2	16	SNP	1.000	C	C	49958206	G	C	49958206	3	2	110	1	0	0	0	0	1	0	0	0	453	1311	46	5	1414	5	AKAP4	23	49958206	Missense_Mutation	SNP	G	TCGA-LN-A49Y-01A-11D-A27G-09	17467870	49958206	105312354	287	30090											
SHROOM4	57477	genome.wustl.edu	37	chrX	50350728	50350729	+	In_Frame_Ins	INS	-	-	TCC																															cttcctcttcttcttcttctINStcctcctcctcctcctcctc																								rs6614552|rs375199494|rs143151534		TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:50350728_50350729insTCC	ENST00000289292.7	-	6	3696_3697	c.3413_3414insGGA	c.(3412-3414)gaa>gaGGAa	p.1138_1138E>EE	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1138_1138E>EE|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1022_1022E>EE			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1138	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cttcttcttcttcctcctcctc	0.559														968	0.256424	0.1286	0.1614	3775	,	,		11689	0.1885		0.2127	False		,,,				2504	0.2883																0																																										SO:0001652	inframe_insertion	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3411_3413dupGGA	X.37:g.50350735_50350737dupTCC	ENSP00000289292:p.Glu1151dup		A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1142in_frame_insE	ENST00000289292.7	37	c.3414_3413	CCDS35277.1	X																																																																																			SHROOM4	-	NULL	ENSG00000158352		0.559	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4		0	9	0	-	NM_020717		50350729	-1	tier1		no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	44.44	5	4	INS	0.000:0.000	TCC	TCC	50350729	-	TCC	50350728	7	5	110	1	0	1	1	0	0	0	0	0	14341	1606	56	0	1083	0	SHROOM4	23	50350728	In_Frame_Ins	INS	-	TCGA-LN-A49Y-01A-11D-A27G-09	392522	50350728	104919832	288	30091											
TBX22	50945	genome.wustl.edu	37	chrX	79282340	79282340	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagaaactgagttcacCacagtaacggcttaccaaaa	17	9	6	9	1	1	2	1	1	0	1	1	2	1	2	2	1	3	3	2	1	7	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:79282340C>A	ENST00000373294.5	+	5	799	c.771C>A	c.(769-771)acC>acA	p.T257T	TBX22_ENST00000373296.3_Silent_p.T257T|TBX22_ENST00000373291.1_Silent_p.T137T|TBX22_ENST00000442340.1_Silent_p.T137T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	257					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTGAGTTCACCACAGTAACGG	0.473																																																	0													98	75	83					X																	79282340		2203	4300	6503	SO:0001819	synonymous_variant	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"T-boxes"	11600	protein-coding gene	gene with protein product		300307	"cleft palate and/or ankyloglossia"	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.771C>A	X.37:g.79282340C>A			Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.T257	ENST00000373294.5	37	c.771	CCDS14445.1	X																																																																																			TBX22	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000122145		0.473	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	-	0	26	0	C	NM_016954		79282340	1	tier1	-	no_errors	ENST00000373294	ensembl	human	known	74_37	silent	94.44	1	17	SNP	1.000	A	A	79282340	C	A	79282340	2	1	110	1	0	0	0	0	0	0	0	1	15705	581	21	3		3	TBX22	23	79282340	Silent	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	28931612	79282340	75988220	289	30092											
CPXCR1	53336	genome.wustl.edu	37	chrX	88008707	88008707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcagacccccattcccAgaaaattggtctctcacaag	12	10	5	14	0	3	2	2	0	1	2	5	2	4	2	3	1	1	0	3	1	4	4			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:88008707A>G	ENST00000276127.4	+	3	551	c.292A>G	c.(292-294)Aga>Gga	p.R98G	CPXCR1_ENST00000373111.1_Missense_Mutation_p.R98G	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	98							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCCATTCCCAGAAAATTGGT	0.413																																																	0													36	33	34					X																	88008707		2203	4300	6503	SO:0001583	missense	0			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"cancer/testis antigen 77"					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.292A>G	X.37:g.88008707A>G	ENSP00000276127:p.Arg98Gly		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.R98G	ENST00000276127.4	37	c.292	CCDS14458.1	X	.	.	.	.	.	.	.	.	.	.	A	11.21	1.570516	0.28003	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.27720	1.65;1.65	3.33	3.33	0.38152	.	0.372131	0.19683	N	0.108473	T	0.32823	0.0842	L	0.27053	0.805	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.04242	-1.0966	9	.	.	.	-3.7593	7.3927	0.26919	1.0:0.0:0.0:0.0	.	98	Q8N123	CPXCR_HUMAN	G	98	ENSP00000276127:R98G;ENSP00000362203:R98G	.	R	+	1	2	CPXCR1	87895363	0.849000	0.29639	0.289000	0.24876	0.096000	0.18686	0.807000	0.27140	1.556000	0.49512	0.481000	0.45027	AGA	CPXCR1	-	NULL	ENSG00000147183		0.413	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXCR1	HGNC	protein_coding	OTTHUMT00000057418.1	-	0	19	0	A	NM_033048		88008707	1	tier1	-	no_errors	ENST00000276127	ensembl	human	known	74_37	missense	95.65	1	22	SNP	0.302	G	G	88008707	A	G	88008707	3	3	110	1	0	0	0	0	1	0	0	0	3843	180	7	4	294	4	CPXCR1	23	88008707	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	8726367	88008707	67261853	290	30093											
IL1RAPL2	26280	genome.wustl.edu	37	chrX	104992962	104992962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcgctccagatttaatctAtaaaattgagcttgcagggg	11	13	10	7	1	1	2	0	1	1	1	3	2	2	2	1	2	2	4	1	2	4	7			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:104992962A>C	ENST00000372582.1	+	9	1814	c.1058A>C	c.(1057-1059)tAt>tCt	p.Y353S	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y353S	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	353					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATTTAATCTATAAAATTGAG	0.383																																																	0													85	76	79					X																	104992962		2203	4300	6503	SO:0001583	missense	0			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1058A>C	X.37:g.104992962A>C	ENSP00000361663:p.Tyr353Ser		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	p.Y353S	ENST00000372582.1	37	c.1058	CCDS14517.1	X	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155348	0.57259	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	T;T	0.03663	3.85;3.85	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000008	T	0.07954	0.0199	M	0.83483	2.645	0.80722	D	1	B	0.27498	0.18	B	0.20577	0.03	T	0.08764	-1.0706	10	0.25751	T	0.34	.	14.2521	0.66026	1.0:0.0:0.0:0.0	.	353	Q9NP60	IRPL2_HUMAN	S	353	ENSP00000361663:Y353S;ENSP00000344976:Y353S	ENSP00000344976:Y353S	Y	+	2	0	IL1RAPL2	104879618	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.003000	0.76310	1.964000	0.57103	0.481000	0.45027	TAT	IL1RAPL2	-	NULL	ENSG00000189108		0.383	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	-	0	40	0	A	NM_017416		104992962	1	tier1	-	no_errors	ENST00000344799	ensembl	human	known	74_37	missense	93.62	3	44	SNP	1.000	C	C	104992962	A	C	104992962	3	2	110	1	0	0	0	0	1	0	0	0	7689	449	16	4	1088	4	IL1RAPL2	23	104992962	Missense_Mutation	SNP	A	TCGA-LN-A49Y-01A-11D-A27G-09	16984255	104992962	50277598	291	30094											
NRK	203447	genome.wustl.edu	37	chrX	105125725	105125725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacctgaaataggaaggCgagtgagagtgaataaatat	16	10	11	4	1	0	3	0	3	0	1	0	6	0	4	1	2	1	0	1	2	8	5			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:105125725C>G	ENST00000243300.9	+	4	508	c.205C>G	c.(205-207)Cga>Gga	p.R69G	NRK_ENST00000428173.2_Missense_Mutation_p.R69G|NRK_ENST00000536164.1_Missense_Mutation_p.R69G	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R69*(2)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATAGGAAGGCGAGTGAGAGT	0.333										HNSCC(51;0.14)																																							2	Substitution - Nonsense(2)	large_intestine(2)											79	67	71					X																	105125725		1803	4021	5824	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.205C>G	X.37:g.105125725C>G	ENSP00000434830:p.Arg69Gly		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.R69G	ENST00000243300.9	37	c.205		X	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570494	0.28003	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.66099	-0.19;-0.19;-0.19	3.97	2.14	0.27477	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32002	N	0.006739	T	0.68007	0.2954	L	0.42581	1.335	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	T	0.65261	-0.6211	10	0.59425	D	0.04	.	8.207	0.31461	0.4329:0.5671:0.0:0.0	.	69	Q7Z2Y5	NRK_HUMAN	G	69	ENSP00000434830:R69G;ENSP00000438378:R69G;ENSP00000438785:R69G	ENSP00000434830:R69G	R	+	1	2	NRK	105012381	0.287000	0.24315	0.750000	0.31169	0.987000	0.75469	0.065000	0.14466	0.278000	0.22164	-0.293000	0.09583	CGA	NRK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000123572		0.333	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	-	0	52	0	C	NM_198465		105125725	1	tier1	-	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	83.33	9	45	SNP	0.704	G	G	105125725	C	G	105125725	3	3	110	1	0	0	0	0	1	0	0	0	10694	760	27	5	219	5	NRK	23	105125725	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	132763	105125725	50144835	292	30095											
DCAF12L2	340578	genome.wustl.edu	37	chrX	125299265	125299265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccacagagccacggtgcCgtcgcgggagccgctcacag	7	3	14	17	6	1	1	1	0	0	1	2	2	1	2	5	2	3	1	5	2	0	0			TCGA-LN-A49Y-01A-11D-A27G-09	TCGA-LN-A49Y-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	554d5940-81b2-4d30-8f95-ca4680d23b18	78f201b5-47a9-4fcc-bff1-a93fa936ed65	g.chrX:125299265C>A	ENST00000360028.2	-	1	669	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G215C			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	215										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCACGGTGCCGTCGCGGGAG	0.642																																																	0													38	41	40					X																	125299265		2203	4298	6501	SO:0001583	missense	0			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"WD repeat domain containing"	32950	protein-coding gene	gene with protein product			"WD repeat domain 40C"	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.643G>T	X.37:g.125299265C>A	ENSP00000353128:p.Gly215Cys		B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G215C	ENST00000360028.2	37	c.643	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379966	0.42207	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64991	-0.13;-0.13	4.53	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.34046	N	0.004318	T	0.76572	0.4006	M	0.76574	2.34	0.46654	D	0.999141	D	0.89917	1.0	D	0.97110	1.0	T	0.77091	-0.2716	10	0.44086	T	0.13	.	12.1893	0.54261	0.0:1.0:0.0:0.0	.	215	Q5VW00	DC122_HUMAN	C	215	ENSP00000441489:G215C;ENSP00000353128:G215C	ENSP00000353128:G215C	G	-	1	0	DCAF12L2	125126946	1.000000	0.71417	0.064000	0.19789	0.002000	0.02628	6.859000	0.75467	2.167000	0.68274	0.544000	0.68410	GGC	DCAF12L2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000198354		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	-	0	67	0	C	NM_001013628		125299265	-1	tier1	-	no_errors	ENST00000360028	ensembl	human	known	74_37	missense	90.70	4	39	SNP	0.961	A	A	125299265	C	A	125299265	3	1	110	1	0	0	0	0	1	0	0	0	4274	652	23	2	752	2	DCAF12L2	23	125299265	Missense_Mutation	SNP	C	TCGA-LN-A49Y-01A-11D-A27G-09	20173540	125299265	29971295	293	30096											
CASZ1	54897	genome.wustl.edu	37	chr1	10715742	10715742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtgctcttcccattgagGtggcagccgtggtagtagac	6	11	15	9	1	1	2	0	1	1	1	2	2	2	2	2	4	2	4	2	4	2	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:10715742G>A	ENST00000377022.3	-	9	1946	c.1629C>T	c.(1627-1629)caC>caT	p.H543H	CASZ1_ENST00000344008.5_Silent_p.H543H|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	543					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCCCATTGAGGTGGCAGCCGT	0.642																																																	0													136	97	111					1																	10715742		2203	4299	6502	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1629C>T	1.37:g.10715742G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H543	ENST00000377022.3	37	c.1629	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.642	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0	58	0	G	NM_017766		10715742	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	34.88	28	15	SNP	1.000	A	A	10715742	G	A	10715742	2	1	111	1	0	0	0	0	0	0	0	1	2692	1252	44	3		3	CASZ1	1	10715742	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		10715742	238534879	1	30097											
HTR1D	3352	genome.wustl.edu	37	chr1	23519984	23519984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggcagagcctgtgatgagGtgggccgtggtgaagcgctt	6	8	18	9	3	0	4	0	3	0	1	0	4	0	4	3	4	2	2	3	4	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:23519984G>C	ENST00000374619.1	-	1	1238	c.729C>G	c.(727-729)caC>caG	p.H243Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.H243Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	243					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTGTGATGAGGTGGGCCGTGG	0.617																																																	0													44	49	47					1																	23519984		2203	4300	6503	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5289	protein-coding gene	gene with protein product		182133	"5-hydroxytryptamine (serotonin) receptor 1D"	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.729C>G	1.37:g.23519984G>C	ENSP00000363748:p.His243Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.H243Q	ENST00000374619.1	37	c.729	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	G	0.528	-0.858970	0.02610	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.68479	-0.33;-0.33	5.35	-10.7	0.00240	GPCR, rhodopsin-like superfamily (1);	0.315657	0.35805	N	0.002961	T	0.33440	0.0863	N	0.10782	0.045	0.20926	N	0.99983	B	0.02656	0.0	B	0.13407	0.009	T	0.33803	-0.9854	10	0.02654	T	1	.	15.3222	0.74132	0.1466:0.626:0.2274:0.0	.	243	P28221	5HT1D_HUMAN	Q	243	ENSP00000313661:H243Q;ENSP00000363748:H243Q	ENSP00000313661:H243Q	H	-	3	2	HTR1D	23392571	0.000000	0.05858	0.118000	0.21660	0.933000	0.57130	-3.564000	0.00429	-2.480000	0.00523	-0.140000	0.14226	CAC	HTR1D	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1D_rcpt	ENSG00000179546		0.617	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	-	0	57	0	G	NM_000864		23519984	-1	tier1	-	no_errors	ENST00000314113	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.219	C	C	23519984	G	C	23519984	3	2	111	1	0	0	0	0	1	0	0	0	7465	1252	44	5	408	5	HTR1D	1	23519984	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	12804242	23519984	225730637	2	30098											
CNKSR1	10256	genome.wustl.edu	37	chr1	26508862	26508862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacttccaggatggtccagCggctgagaaggagggcacag	10	6	15	10	1	0	1	0	1	0	1	2	4	2	3	2	5	2	2	2	5	2	2	rs148174101		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:26508862C>T	ENST00000374253.5	+	5	527	c.488C>T	c.(487-489)gCg>gTg	p.A163V	CNKSR1_ENST00000361530.6_Missense_Mutation_p.A163V|CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000480348.2_Intron	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	163	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GATGGTCCAGCGGCTGAGAAG	0.632																																					NSCLC(180;1396 2109 28270 30756 34275)												0								C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	54	55	54		488	0.9	0	1	dbSNP_134	54	0,8600		0,0,4300	no	missense	CNKSR1	NM_006314.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	163/714	26508862	2,13004	2203	4300	6503	SO:0001583	missense	0			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.488C>T	1.37:g.26508862C>T	ENSP00000363371:p.Ala163Val		B1AMW9|O95381	Missense_Mutation	SNP	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.A163V	ENST00000374253.5	37	c.488		1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.124638	0.00342	4.54E-4	0.0	ENSG00000142675	ENST00000361530;ENST00000374253	T;T	0.12774	2.65;2.65	4.27	0.915	0.19366	CRIC domain (1);	0.392438	0.25683	N	0.028997	T	0.04048	0.0113	N	0.05383	-0.06	0.25833	N	0.984149	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.40156	-0.9578	10	0.02654	T	1	-7.2848	2.7344	0.05236	0.2933:0.4317:0.0:0.275	.	163;163	Q969H4;Q53GM7	CNKR1_HUMAN;.	V	163	ENSP00000354609:A163V;ENSP00000363371:A163V	ENSP00000354609:A163V	A	+	2	0	CNKSR1	26381449	0.003000	0.15002	0.045000	0.18777	0.002000	0.02628	-0.016000	0.12613	0.365000	0.24400	-0.254000	0.11334	GCG	CNKSR1	-	NULL	ENSG00000142675		0.632	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2		0	65	0	C	NM_006314		26508862	1			no_errors	ENST00000374253	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.187	T	T	26508862	C	T	26508862	3	4	111	1	0	0	0	0	1	0	0	0	3613	768	27	1	506	1	CNKSR1	1	26508862	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	2988878	26508862	222741759	3	30099											
FAM76A	199870	genome.wustl.edu	37	chr1	28087091	28087091	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctataacctctccatGacagacctcaaggaggctcc	12	7	9	13	0	2	2	1	1	1	1	4	4	3	4	4	3	2	2	4	3	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:28087091G>T	ENST00000373954.6	+	9	1025	c.923G>T	c.(922-924)tGa>tTa	p.*308L	FAM76A_ENST00000010299.6_Nonstop_Mutation_p.*342L|FAM76A_ENST00000419687.2_Nonstop_Mutation_p.*228L|FAM76A_ENST00000234549.7_Nonstop_Mutation_p.*313L|FAM76A_ENST00000373949.1_Nonstop_Mutation_p.*279L	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	0										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCTCCATGACAGACCTCA	0.478																																																	0													42	41	41					1																	28087091		2203	4300	6503	SO:0001578	stop_lost	0			AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.923G>T	1.37:g.28087091G>T	ENSP00000363065:p.*308Leuext*32		B4DWT3|O95565|O95566|Q8N7J5	Nonstop_Mutation	SNP	NULL	p.*342L	ENST00000373954.6	37	c.1025	CCDS309.1	1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900874	0.72754	.	.	ENSG00000009780	ENST00000373954;ENST00000419687;ENST00000234549;ENST00000373949;ENST00000010299	.	.	.	5.85	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.774	0.34751	0.1762:0.0:0.8238:0.0	.	.	.	.	L	308;228;313;279;342	.	.	X	+	2	2	FAM76A	27959678	1.000000	0.71417	0.749000	0.31150	0.704000	0.40688	3.073000	0.50057	1.484000	0.48361	-0.137000	0.14449	TGA	FAM76A	-	NULL	ENSG00000009780		0.478	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM76A	HGNC	protein_coding	OTTHUMT00000010514.3	-	0	26	0	G	NM_152660		28087091	1	tier1	-	no_errors	ENST00000010299	ensembl	human	known	74_37	nonstop	11.43	31	4	SNP	0.962	T	T	28087091	G	T	28087091	4	4	111	1	0	0	0	0	0	0	0	0	5646	1285	45	3	1063	3	FAM76A	1	28087091	Nonstop_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1578229	28087091	221163530	4	30100											
DEM1	64789	genome.wustl.edu	37	chr1	40981183	40981183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccaaggtgcagcattatAtggcctactggatgggccac	10	8	13	10	0	0	0	0	0	0	0	0	2	0	1	3	4	4	2	3	4	4	3	rs145178039		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:40981183A>G	ENST00000372703.1	+	2	2041	c.967A>G	c.(967-969)Atg>Gtg	p.M323V	RP11-656D10.5_ENST00000453437.1_RNA|RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.M323V|EXO5_ENST00000358527.2_Missense_Mutation_p.M323V			Q9H790	EXO5_HUMAN	exonuclease 5	323					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)										GCAGCATTATATGGCCTACTG	0.522													A|||	1	0.000199681	0	0.0014	5008	,	,		19723	0		0	False		,,,				2504	0																0								A	VAL/MET	0,4406		0,0,2203	78	66	70		967	-0.1	0.6	1	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	missense	DEM1	NM_022774.1	21	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	benign	323/374	40981183	2,13004	2203	4300	6503	SO:0001583	missense	0			AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)"	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.967A>G	1.37:g.40981183A>G	ENSP00000361788:p.Met323Val		D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	pfam_EXOV	p.M323V	ENST00000372703.1	37	c.967	CCDS453.1	1	.	.	.	.	.	.	.	.	.	.	A	3.411	-0.120150	0.06838	0.0	2.33E-4	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	T;T;T	0.32023	1.47;1.47;1.47	5.28	-0.0492	0.13836	.	0.452778	0.19496	N	0.112854	T	0.19167	0.0460	L	0.43152	1.355	0.09310	N	0.999995	B	0.02656	0.0	B	0.10450	0.005	T	0.17561	-1.0365	10	0.21014	T	0.42	-31.8834	4.2545	0.10710	0.4708:0.3416:0.1877:0.0	.	323	Q9H790	EXO5_HUMAN	V	323	ENSP00000351328:M323V;ENSP00000361788:M323V;ENSP00000296380:M323V	ENSP00000296380:M323V	M	+	1	0	DEM1	40753770	0.003000	0.15002	0.647000	0.29507	0.368000	0.29767	-0.262000	0.08682	0.175000	0.19841	0.529000	0.55759	ATG	EXO5	-	pfam_EXOV	ENSG00000164002		0.522	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EXO5	HGNC	protein_coding	OTTHUMT00000019087.1	-	0	20	0	A	NM_022774		40981183	1	tier1	rs145178039	no_errors	ENST00000296380	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.171	G	G	40981183	A	G	40981183	3	3	111	1	0	0	0	0	1	0	0	0	4439	449	16	4	969	4	DEM1	1	40981183	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	12894092	40981183	208269438	5	30101											
KCNQ4	9132	genome.wustl.edu	37	chr1	41300749	41300749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggacatgctgggccGgatcaagagcctgcaaactc	10	6	11	14	1	1	1	1	0	0	1	2	3	1	3	4	3	4	2	4	3	2	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:41300749G>A	ENST00000347132.5	+	12	1806	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R521Q|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	575	A-domain (Tetramerization).				inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	ATGCTGGGCCGGATCAAGAGC	0.612																																																	0													95	87	90					1																	41300749		2203	4300	6503	SO:0001583	missense	0			AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1724G>A	1.37:g.41300749G>A	ENSP00000262916:p.Arg575Gln		O96025	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.R575Q	ENST00000347132.5	37	c.1724	CCDS456.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.478525	0.96291	.	.	ENSG00000117013	ENST00000347132;ENST00000509682	D;D	0.99880	-7.46;-7.46	4.98	4.98	0.66077	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96092	0.9062	10	0.87932	D	0	-24.9292	16.1004	0.81167	0.0:0.0:1.0:0.0	.	521;575	P56696-2;P56696	.;KCNQ4_HUMAN	Q	575;521	ENSP00000262916:R575Q;ENSP00000423756:R521Q	ENSP00000262916:R575Q	R	+	2	0	KCNQ4	41073336	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.720000	0.98763	2.476000	0.83614	0.551000	0.68910	CGG	KCNQ4	-	pfam_K_chnl_volt-dep_KCNQ_C	ENSG00000117013		0.612	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KCNQ4	HGNC	protein_coding	OTTHUMT00000020812.1	-	0	57	0	G	NM_004700		41300749	1	tier1	-	no_errors	ENST00000347132	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	A	A	41300749	G	A	41300749	3	1	111	1	0	0	0	0	1	0	0	0	8112	1116	39	1	1770	1	KCNQ4	1	41300749	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	319566	41300749	207949872	6	30102											
RAVER2	55225	genome.wustl.edu	37	chr1	65268698	65268698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttgccacatctgatgaAtccatccatctctcctgcat	9	12	5	15	0	2	2	0	2	2	0	6	2	5	2	4	0	3	2	4	0	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:65268698A>G	ENST00000294428.3	+	6	1223	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	RAVER2_ENST00000371072.4_Missense_Mutation_p.N382S|RAVER2_ENST00000430964.2_Missense_Mutation_p.N88S			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	382						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CATCTGATGAATCCATCCATC	0.303																																																	0													133	124	127					1																	65268698		1857	4108	5965	SO:0001583	missense	0			AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"RNA binding motif (RRM) containing"	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1145A>G	1.37:g.65268698A>G	ENSP00000294428:p.Asn382Ser		Q6P141|Q9NPV7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N382S	ENST00000294428.3	37	c.1145		1	.	.	.	.	.	.	.	.	.	.	A	4.248	0.045111	0.08196	.	.	ENSG00000162437	ENST00000371072;ENST00000294428;ENST00000430964	T;T	0.33216	1.43;1.42	5.67	2.09	0.27110	.	0.312841	0.39407	N	0.001369	T	0.05410	0.0143	N	0.25647	0.755	0.26234	N	0.978977	B;B	0.23185	0.028;0.081	B;B	0.22152	0.014;0.038	T	0.42310	-0.9459	10	0.15499	T	0.54	-23.0133	5.1945	0.15230	0.5638:0.2895:0.1467:0.0	.	382;382	Q9HCJ3;Q9HCJ3-2	RAVR2_HUMAN;.	S	382;382;88	ENSP00000360112:N382S;ENSP00000294428:N382S	ENSP00000294428:N382S	N	+	2	0	RAVER2	65041286	0.727000	0.28069	0.662000	0.29724	0.074000	0.17049	1.504000	0.35726	0.104000	0.17725	-0.332000	0.08345	AAT	RAVER2	-	NULL	ENSG00000162437		0.303	RAVER2-201	KNOWN	basic	protein_coding	RAVER2	HGNC	protein_coding		-	0	56	0	A	NM_018211		65268698	1	tier1	-	no_errors	ENST00000294428	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.847	G	G	65268698	A	G	65268698	3	3	111	1	0	0	0	0	1	0	0	0	13140	101	4	4	1167	4	RAVER2	1	65268698	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	23967949	65268698	183981923	7	30103											
BRDT	676	genome.wustl.edu	37	chr1	92470076	92470076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcaaccaatttagaaaaGcagccatagaaaaggaagta	19	8	7	7	0	2	2	1	0	1	2	2	3	2	3	2	1	3	2	2	1	10	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:92470076G>A	ENST00000362005.3	+	18	2912	c.2494G>A	c.(2494-2496)Gca>Aca	p.A832T	BRDT_ENST00000399546.2_Missense_Mutation_p.A832T|BRDT_ENST00000402388.1_Missense_Mutation_p.A832T|BRDT_ENST00000394530.3_Missense_Mutation_p.A786T|BRDT_ENST00000370389.2_Missense_Mutation_p.A759T	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	832					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATTTAGAAAAGCAGCCATAGA	0.373																																																	0													81	89	87					1																	92470076		2202	4298	6500	SO:0001583	missense	0			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"cancer/testis antigen 9"	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2494G>A	1.37:g.92470076G>A	ENSP00000354568:p.Ala832Thr		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.A832T	ENST00000362005.3	37	c.2494	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029829	0.93575	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.09350	3.02;2.99;3.02;3.04;3.02	5.49	5.49	0.81192	.	0.126644	0.35555	N	0.003131	T	0.18800	0.0451	M	0.76328	2.33	0.47341	D	0.999399	D;D;D;D	0.58268	0.964;0.964;0.982;0.964	P;P;P;P	0.52554	0.563;0.563;0.702;0.563	T	0.00819	-1.1553	10	0.87932	D	0	-19.6259	18.1405	0.89638	0.0:0.0:1.0:0.0	.	786;786;836;832	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	T	832;759;832;786;832	ENSP00000354568:A832T;ENSP00000359416:A759T;ENSP00000387822:A832T;ENSP00000378038:A786T;ENSP00000384051:A832T	ENSP00000354568:A832T	A	+	1	0	BRDT	92242664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.324000	0.72896	2.579000	0.87056	0.484000	0.47621	GCA	BRDT	-	NULL	ENSG00000137948		0.373	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	-	0	45	0	G	NM_207189		92470076	1	tier1	-	no_errors	ENST00000362005	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	A	A	92470076	G	A	92470076	3	1	111	1	0	0	0	0	1	0	0	0	1512	971	34	3	2556	3	BRDT	1	92470076	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	27201378	92470076	156780545	8	30104											
ATP1A1	476	genome.wustl.edu	37	chr1	116931580	116931580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagactaggtctccagatttCacaaatgaaaaccccctgga	14	8	7	12	0	2	3	1	1	1	2	3	4	2	4	3	2	1	0	3	2	4	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:116931580C>T	ENST00000295598.5	+	7	945	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ATP1A1_ENST00000537345.1_Silent_p.F231F|ATP1A1_ENST00000369496.4_Silent_p.F200F|ATP1A1_ENST00000491156.1_3'UTR	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	231					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CTCCAGATTTCACAAATGAAA	0.443																																																	0													86	90	89					1																	116931580		2203	4300	6503	SO:0001819	synonymous_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.693C>T	1.37:g.116931580C>T			B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.F231	ENST00000295598.5	37	c.693	CCDS887.1	1																																																																																			ATP1A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000163399		0.443	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0	19	0	C	NM_001160233		116931580	1			no_errors	ENST00000295598	ensembl	human	known	74_37	silent	14.29	12	2	SNP	1.000	T	T	116931580	C	T	116931580	2	4	111	1	0	0	0	0	0	0	0	1	1129	825	29	3		3	ATP1A1	1	116931580	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	24461504	116931580	132319041	9	30105											
ATP1A1	476	genome.wustl.edu	37	chr1	116939316	116939316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagaccgtggaagacattGctgcccgcctcaacatccca	11	7	9	14	2	1	2	1	1	0	2	2	4	2	3	4	1	3	1	4	1	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:116939316G>T	ENST00000295598.5	+	14	2185	c.1933G>T	c.(1933-1935)Gct>Tct	p.A645S	ATP1A1_ENST00000537345.1_Missense_Mutation_p.A645S|ATP1A1_ENST00000369496.4_Missense_Mutation_p.A614S	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	645					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GGAAGACATTGCTGCCCGCCT	0.493																																																	0													111	94	100					1																	116939316		2203	4300	6503	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"ATPases / P-type"	799	protein-coding gene	gene with protein product	"sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1933G>T	1.37:g.116939316G>T	ENSP00000295598:p.Ala645Ser		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.A645S	ENST00000295598.5	37	c.1933	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008386	0.93346	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.94862	-3.54;-3.54;-3.53	5.14	5.14	0.70334	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	L	0.52905	1.665	0.80722	D	1	B;B	0.26445	0.01;0.149	B;P	0.53266	0.311;0.722	D	0.94860	0.8021	10	0.56958	D	0.05	.	18.8017	0.92021	0.0:0.0:1.0:0.0	.	645;645	F5H3A1;P05023	.;AT1A1_HUMAN	S	645;645;614	ENSP00000295598:A645S;ENSP00000445306:A645S;ENSP00000358508:A614S	ENSP00000295598:A645S	A	+	1	0	ATP1A1	116740839	1.000000	0.71417	0.996000	0.52242	0.872000	0.50106	9.657000	0.98554	2.665000	0.90641	0.467000	0.42956	GCT	ATP1A1	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000163399		0.493	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	-	0	55	0	G	NM_001160233		116939316	1	tier1	-	no_errors	ENST00000295598	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T	T	116939316	G	T	116939316	3	4	111	1	0	0	0	0	1	0	0	0	1129	1319	46	3	2003	3	ATP1A1	1	116939316	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	7736	116939316	132311305	10	30106											
C1orf77	26097	genome.wustl.edu	37	chr1	153610909	153610909	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctctgtccaggcagcAttaaaacttaagcaggtgag	13	8	10	10	0	1	2	0	1	1	1	2	2	2	2	2	2	3	3	2	2	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:153610909A>G	ENST00000368694.3	+	3	516	c.204A>G	c.(202-204)gcA>gcG	p.A68A	CHTOP_ENST00000368687.1_Silent_p.A43A|CHTOP_ENST00000368686.1_Silent_p.A28A|CHTOP_ENST00000403433.1_Silent_p.A68A|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000368690.3_Silent_p.A68A	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	68					mRNA export from nucleus (GO:0006406)|positive regulation of ATPase activity (GO:0032781)|positive regulation of helicase activity (GO:0051096)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|transcription export complex (GO:0000346)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						TCCAGGCAGCATTAAAACTTA	0.512																																																	0													65	64	64					1																	153610909		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1048.1, CCDS72917.1, CCDS72918.1	1q21.3	2011-03-24	2011-03-24	2011-03-24	ENSG00000160679	ENSG00000160679			24511	protein-coding gene	gene with protein product	"small protein rich in arginine and glycine", "Friend of Prmt1"	614206	"chromosome 1 open reading frame 77"	C1orf77		19254951	Standard	NM_015607		Approved	DKFZP547E1010, SRAG, FOP	uc001fcn.2	Q9Y3Y2	OTTHUMG00000037052	ENST00000368694.3:c.204A>G	1.37:g.153610909A>G			D3DV55|Q0VAQ8|Q2VPI9|Q5T7Y8|Q5T7Y9|Q5T7Z0|Q6NSM4|Q6PB28|Q8WYT9|Q9BUC5|Q9H034|Q9H2L0	Silent	SNP	NULL	p.A68	ENST00000368694.3	37	c.204	CCDS1048.1	1																																																																																			CHTOP	-	NULL	ENSG00000160679		0.512	CHTOP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHTOP	HGNC	protein_coding	OTTHUMT00000089967.1		0	34	0	A	NM_015607		153610909	1			no_errors	ENST00000368694	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.995	G	G	153610909	A	G	153610909	2	3	111	1	0	0	0	0	0	0	0	1	2066	204	8	4		4	C1orf77	1	153610909	Silent	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	36671593	153610909	95639712	11	30107											
KLHL20	27252	genome.wustl.edu	37	chr1	173751271	173751271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggttttgtaggttggcctgGcagtggtcaatggacagctc	6	13	15	7	0	1	0	1	0	0	0	2	1	1	1	1	6	1	5	1	6	2	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:173751271G>T	ENST00000209884.4	+	11	1784	c.1648G>T	c.(1648-1650)Gca>Tca	p.A550S	KLHL20_ENST00000546011.1_Missense_Mutation_p.A361S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	550					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGTTGGCCTGGCAGTGGTCAA	0.393																																					GBM(159;862 2695 6559 23041)												0													182	173	176					1																	173751271		2203	4300	6503	SO:0001583	missense	0			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"Kelch-like", "BTB/POZ domain containing"	25056	protein-coding gene	gene with protein product			"kelch-like 20 (Drosophila)"			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1648G>T	1.37:g.173751271G>T	ENSP00000209884:p.Ala550Ser		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A550S	ENST00000209884.4	37	c.1648	CCDS1310.1	1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550462	0.86127	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.80824	-1.42;-1.42	4.97	4.97	0.65823	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	M	0.76433	2.335	0.80722	D	1	P;P	0.46859	0.88;0.885	P;P	0.57620	0.731;0.824	D	0.85251	0.1044	10	0.45353	T	0.12	.	17.0185	0.86427	0.0:0.0:1.0:0.0	.	361;550	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	S	361;550	ENSP00000443121:A361S;ENSP00000209884:A550S	ENSP00000209884:A550S	A	+	1	0	KLHL20	172017894	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.644000	0.98468	2.305000	0.77605	0.650000	0.86243	GCA	KLHL20	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000076321		0.393	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	-	0	115	0	G	NM_014458		173751271	1	tier1	-	no_errors	ENST00000209884	ensembl	human	known	74_37	missense	15.00	66	12	SNP	1.000	T	T	173751271	G	T	173751271	3	4	111	1	0	0	0	0	1	0	0	0	8402	1203	42	3	1686	3	KLHL20	1	173751271	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	20140362	173751271	75499350	12	30108											
ASTN1	460	genome.wustl.edu	37	chr1	176926897	176926897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatctttgctgcagtcgcGcaccggcccaaaggaatcta	9	10	10	12	3	2	0	0	0	2	0	3	1	2	1	2	2	2	4	2	2	4	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:176926897G>T	ENST00000367654.3	-	11	2039	c.1828C>A	c.(1828-1830)Cgc>Agc	p.R610S	ASTN1_ENST00000424564.2_Missense_Mutation_p.R602S|ASTN1_ENST00000367657.3_Missense_Mutation_p.R602S|ASTN1_ENST00000361833.2_Missense_Mutation_p.R602S|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	610	EGF-like 2.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCAGTCGCGCACCGGCCCA	0.552																																																	0													64	60	61					1																	176926897		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"astrotactin"	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1828C>A	1.37:g.176926897G>T	ENSP00000356626:p.Arg610Ser		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.R610S	ENST00000367654.3	37	c.1828		1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131534	0.77662	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.17691	2.26;2.67;2.67;2.26	5.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.30885	0.0779	L	0.29908	0.895	0.58432	D	0.999998	D;D;D	0.71674	0.998;0.992;0.992	D;D;D	0.80764	0.994;0.979;0.979	T	0.04708	-1.0932	10	0.66056	D	0.02	-17.9623	16.827	0.85934	0.0:0.0:0.8627:0.1372	.	610;602;602	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	602;602;610;602;602	ENSP00000356629:R602S;ENSP00000354536:R602S;ENSP00000356626:R610S;ENSP00000395041:R602S	ENSP00000354536:R602S	R	-	1	0	ASTN1	175193520	1.000000	0.71417	0.997000	0.53966	0.921000	0.55340	4.579000	0.60936	2.618000	0.88619	0.563000	0.77884	CGC	ASTN1	-	NULL	ENSG00000152092		0.552	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding			0	38	0	G	NM_004319		176926897	-1			no_errors	ENST00000367654	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T	T	176926897	G	T	176926897	3	4	111	1	0	0	0	0	1	0	0	0	1065	1087	38	2	2136	2	ASTN1	1	176926897	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	3175626	176926897	72323724	13	30109											
DHX9	1660	genome.wustl.edu	37	chr1	182829305	182829305	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagcagcagagtgtaacAtcgtagtaactcaggtaagt	14	8	11	8	2	1	1	1	0	0	1	2	2	1	1	1	1	4	6	1	1	4	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:182829305A>T	ENST00000367549.3	+	12	1428	c.1318A>T	c.(1318-1320)Atc>Ttc	p.I440F		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	440	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGAGTGTAACATCGTAGTAAC	0.378																																					Colon(69;210 1162 3697 13559 39565)												0													53	49	50					1																	182829305		1844	4084	5928	SO:0001583	missense	0			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"DEAH-boxes"	2750	protein-coding gene	gene with protein product	"NDH II", "RNA helicase A"	603115	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)", "DEAH (Asp-Glu-Ala-His) box polypeptide 9"	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1318A>T	1.37:g.182829305A>T	ENSP00000356520:p.Ile440Phe		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom	p.I440F	ENST00000367549.3	37	c.1318	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878959	0.91740	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.15487	2.42	5.58	5.58	0.84498	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61085	0.2319	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78540	-0.2165	10	0.87932	D	0	.	15.4355	0.75143	1.0:0.0:0.0:0.0	.	440	Q08211	DHX9_HUMAN	F	440	ENSP00000356520:I440F	ENSP00000356520:I440F	I	+	1	0	DHX9	181095928	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	6.724000	0.74747	2.134000	0.65973	0.460000	0.39030	ATC	DHX9	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000135829		0.378	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	-	0	35	0	A	NM_030588		182829305	1	tier1	-	no_errors	ENST00000367549	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T	T	182829305	A	T	182829305	3	4	111	1	0	0	0	0	1	0	0	0	4530	217	8	5	1360	5	DHX9	1	182829305	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	5902408	182829305	66421316	14	30110											
CR1L	1379	genome.wustl.edu	37	chr1	207872577	207872577	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagttactgtgttttggctGgaatggaaagcctttggaat	9	15	12	5	0	0	0	0	0	0	0	0	3	0	3	1	4	2	3	1	4	5	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:207872577G>T	ENST00000508064.2	+	8	1246	c.1186G>T	c.(1186-1188)Gga>Tga	p.G396*	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	396	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTTTGGCTGGAATGGAAAG	0.408											OREG0014195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													265	237	246					1																	207872577		1873	4104	5977	SO:0001587	stop_gained	0			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"Complement system"	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1186G>T	1.37:g.207872577G>T	ENSP00000421736:p.Gly396*	2170	Q32MC9|Q8NEU7	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G396*	ENST00000508064.2	37	c.1186	CCDS44310.1	1	.	.	.	.	.	.	.	.	.	.	.	18.12	3.553310	0.65425	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	.	.	.	1.65	0.695	0.18070	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	3.9879	0.09524	0.2305:0.0:0.7695:0.0	.	.	.	.	X	396	.	ENSP00000434864:G340X	G	+	1	0	CR1L	205939200	0.100000	0.21855	0.001000	0.08648	0.574000	0.36063	1.961000	0.40432	0.263000	0.21812	0.291000	0.19559	GGA	CR1L	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000197721		0.408	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	HGNC	protein_coding	OTTHUMT00000390247.1	-	0	225	0	G	XM_114735		207872577	1	tier1	-	no_errors	ENST00000508064	ensembl	human	known	74_37	nonsense	43.64	93	72	SNP	0.001	T	T	207872577	G	T	207872577	4	4	111	1	0	0	0	0	0	1	0	0	3848	1349	47	3	1216	3	CR1L	1	207872577	Nonsense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	25043272	207872577	41378044	15	30111											
MOSC2	54996	genome.wustl.edu	37	chr1	220936256	220936256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgttcttggcaaggtggCctacccagactactgcccgc	6	10	11	14	1	1	1	0	0	1	1	1	1	1	1	3	3	3	2	3	3	3	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:220936256C>T	ENST00000366913.3	+	4	812	c.614C>T	c.(613-615)gCc>gTc	p.A205V	MARC2_ENST00000359316.2_Missense_Mutation_p.A205V	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	205	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										GGCAAGGTGGCCTACCCAGAC	0.478																																																	0													92	92	92					1																	220936256		2203	4300	6503	SO:0001583	missense	0				CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"MOCO sulphurase C-terminal domain containing 2"	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.614C>T	1.37:g.220936256C>T	ENSP00000355880:p.Ala205Val		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom	p.A205V	ENST00000366913.3	37	c.614	CCDS1525.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455280	0.84209	.	.	ENSG00000117791	ENST00000359316;ENST00000366913;ENST00000425560	T;T;T	0.37235	1.21;1.21;1.21	5.38	5.38	0.77491	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.080948	0.51477	D	0.000089	T	0.59487	0.2197	M	0.87971	2.92	0.58432	D	0.999991	P;P	0.44344	0.754;0.833	P;P	0.53760	0.55;0.734	T	0.63355	-0.6656	10	0.46703	T	0.11	-20.273	16.035	0.80621	0.0:1.0:0.0:0.0	.	205;205	Q969Z3-2;Q969Z3	.;MOSC2_HUMAN	V	205;205;106	ENSP00000352266:A205V;ENSP00000355880:A205V;ENSP00000416442:A106V	ENSP00000352266:A205V	A	+	2	0	MOSC2	219002879	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	3.221000	0.51215	2.508000	0.84585	0.655000	0.94253	GCC	MARC2	-	pfam_MoCF_Sase_C,superfamily_Pyrv_Knase-like_insert_dom	ENSG00000117791		0.478	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARC2	HGNC	protein_coding	OTTHUMT00000090911.1	-	0	80	0	C	NM_017898		220936256	1	tier1	-	no_errors	ENST00000366913	ensembl	human	known	74_37	missense	50.00	29	29	SNP	1.000	T	T	220936256	C	T	220936256	3	4	111	1	0	0	0	0	1	0	0	0	9752	739	26	3	628	3	MOSC2	1	220936256	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	13063679	220936256	28314365	16	30112											
MIA3	375056	genome.wustl.edu	37	chr1	222803584	222803584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagagatctgggaatgaacGaaaataacatatttgaagag	19	9	10	3	1	1	4	0	2	1	2	1	7	1	5	0	1	2	0	0	1	8	4	rs369678137		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:222803584G>A	ENST00000344922.5	+	4	3047	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E1008K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1008					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGGAATGAACGAAAATAACAT	0.428																																																	0													95	92	93					1																	222803584		1919	4133	6052	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"C219 reactive peptide", "transport and golgi organization"	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3022G>A	1.37:g.222803584G>A	ENSP00000340900:p.Glu1008Lys		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E1008K	ENST00000344922.5	37	c.3022	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.67|13.67	2.307497|2.307497	0.40795|0.40795	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05717|.	3.4;3.4|.	5.25|5.25	4.33|4.33	0.51752|0.51752	.|.	.|.	.|.	.|.	.|.	T|T	0.53158|0.53158	0.1779|0.1779	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	D;D|.	0.69078|.	0.978;0.997|.	P;P|.	0.53809|.	0.525;0.735|.	T|T	0.45131|0.45131	-0.9282|-0.9282	9|5	0.72032|.	D|.	0.01|.	.|.	9.9578|9.9578	0.41678|0.41678	0.1531:0.0:0.8469:0.0|0.1531:0.0:0.8469:0.0	.|.	1008;1008|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|Q	1008|590	ENSP00000340900:E1008K;ENSP00000340587:E1008K|.	ENSP00000325973:E1008K|.	E|R	+|+	1|2	0|0	MIA3|MIA3	220870207|220870207	1.000000|1.000000	0.71417|0.71417	0.105000|0.105000	0.21289|0.21289	0.004000|0.004000	0.04260|0.04260	3.733000|3.733000	0.55029|0.55029	2.624000|2.624000	0.88883|0.88883	0.462000|0.462000	0.41574|0.41574	GAA|CGA	MIA3	-	NULL	ENSG00000154305		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4		0	19	0	G	NM_198551		222803584	1			no_errors	ENST00000344441	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.057	A	A	222803584	G	A	222803584	3	1	111	1	0	0	0	0	1	0	0	0	9603	1059	37	1	3036	1	MIA3	1	222803584	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1867328	222803584	26447037	17	30113											
HEATR1	55127	genome.wustl.edu	37	chr1	236730087	236730087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcctgtgctccgggacGtgtggcagcgcatccacaaa	8	6	14	13	4	0	0	0	0	0	0	2	1	2	1	3	3	2	3	3	3	1	0	rs143307751	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:236730087G>C	ENST00000366582.3	-	30	4281	c.4167C>G	c.(4165-4167)caC>caG	p.H1389Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.H1308Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1389					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCTCCGGGACGTGTGGCAGCG	0.443																																																	0													73	75	74					1																	236730087		2203	4300	6503	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"UTP10, small subunit (SSU) processome component, homolog (yeast)"					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.4167C>G	1.37:g.236730087G>C	ENSP00000355541:p.His1389Gln		Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.H1389Q	ENST00000366582.3	37	c.4167	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885262	0.33255	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.31510	1.49;1.49	5.6	-3.08	0.05347	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.77616	2.38	0.80722	D	1	P;D	0.89917	0.877;1.0	P;D	0.75484	0.625;0.986	T	0.56811	-0.7917	10	0.72032	D	0.01	.	14.2368	0.65932	0.7221:0.0:0.2779:0.0	.	1308;1389	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	Q	1389;1308	ENSP00000355541:H1389Q;ENSP00000355540:H1308Q	ENSP00000355540:H1308Q	H	-	3	2	HEATR1	234796710	0.704000	0.27836	0.344000	0.25628	0.036000	0.12997	-0.048000	0.11944	-0.581000	0.05937	-0.880000	0.02959	CAC	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.443	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	-	0	22	0	G	XM_375853		236730087	-1	tier1	-	no_errors	ENST00000366582	ensembl	human	known	74_37	missense	53.33	7	8	SNP	0.918	C	C	236730087	G	C	236730087	3	2	111	1	0	0	0	0	1	0	0	0	7054	1136	40	5	2331	5	HEATR1	1	236730087	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	13926503	236730087	12520534	18	30114											
MTR	4548	genome.wustl.edu	37	chr1	237060945	237060946	+	3'UTR	INS	-	-	T																															gggatatgatacagactaacINStttttttttttttttgcctt																								rs67705775		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:237060945_237060946insT	ENST00000366577.5	+	0	4193_4194				MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TACAGACTAACTTTTTTTTTTT	0.366																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.*2->T	1.37:g.237060956_237060956dupT			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	RNA	INS	-	NULL	ENST00000366577.5	37	NULL	CCDS1614.1	1																																																																																			MTR	-	-	ENSG00000116984		0.366	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0	44	0	-	NM_000254		237060946	1	tier1		no_errors	ENST00000470570	ensembl	human	known	74_37	rna	14.29	30	5	INS	0.008:0.000	T	T	237060946	-	T	237060945	6	5	111	0	1	1	1	0	0	0	0	0	9996	580	20	0		0	MTR	1	237060945	3'UTR	INS	-	TCGA-LN-A4A1-01A-21D-A27G-09	330858	237060945	12189676	19	30115											
NLRP3	114548	genome.wustl.edu	37	chr1	247588559	247588559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatctctcagcaaatcaGgctggagctgctgaaatgga	13	8	11	9	0	3	2	2	1	1	1	4	4	3	4	0	3	3	4	0	3	3	0	rs138802458		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr1:247588559G>T	ENST00000336119.3	+	3	2560	c.1814G>T	c.(1813-1815)aGg>aTg	p.R605M	NLRP3_ENST00000366497.2_Missense_Mutation_p.R605M|NLRP3_ENST00000391827.2_Missense_Mutation_p.R605M|NLRP3_ENST00000366496.2_Missense_Mutation_p.R605M|NLRP3_ENST00000348069.2_Missense_Mutation_p.R605M|NLRP3_ENST00000391828.3_Missense_Mutation_p.R605M|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	605					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.R605K(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGCAAATCAGGCTGGAGCTG	0.443																																																	1	Substitution - Missense(1)	skin(1)											52	53	53					1																	247588559		2203	4300	6503	SO:0001583	missense	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"Nucleotide-binding domain and leucine rich repeat containing"	16400	protein-coding gene	gene with protein product	"Cryopyrin", "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"	606416	"cold autoinflammatory syndrome 1"	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1814G>T	1.37:g.247588559G>T	ENSP00000337383:p.Arg605Met		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R605M	ENST00000336119.3	37	c.1814	CCDS1632.1	1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391508	0.42410	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	3.96	3.03	0.35002	.	0.109657	0.40728	N	0.001021	D	0.88966	0.6581	L	0.45137	1.4	0.09310	N	0.999998	B;P;D;P;B	0.89917	0.398;0.867;1.0;0.864;0.398	B;P;D;P;B	0.76071	0.184;0.494;0.987;0.644;0.242	T	0.79773	-0.1662	10	0.56958	D	0.05	.	9.1297	0.36837	0.0:0.0:0.7827:0.2173	.	605;605;605;605;605	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	605	ENSP00000375704:R605M;ENSP00000355453:R605M;ENSP00000337383:R605M;ENSP00000294752:R605M;ENSP00000355452:R605M;ENSP00000375703:R605M	ENSP00000337383:R605M	R	+	2	0	NLRP3	245655182	0.000000	0.05858	0.155000	0.22561	0.930000	0.56654	0.249000	0.18216	1.236000	0.43740	0.655000	0.94253	AGG	NLRP3	-	NULL	ENSG00000162711		0.443	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1		0	44	0	G	NM_004895		247588559	1			no_errors	ENST00000336119	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.250	T	T	247588559	G	T	247588559	3	4	111	1	0	0	0	0	1	0	0	0	10517	1000	35	3	1824	3	NLRP3	1	247588559	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	10527614	247588559	1662062	20	30116											
PAPOLG	64895	genome.wustl.edu	37	chr2	61009902	61009902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgaatttctttcaaaagtAtaggtacgtgaaattttgta	14	15	7	5	2	2	1	1	1	1	0	2	2	2	1	1	1	1	3	1	1	8	8			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:61009902A>G	ENST00000238714.3	+	12	1358	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	370					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTCAAAAGTATAGGTACGTG	0.289																																					GBM(183;1497 2932 21839 46797)												0													49	52	51					2																	61009902		2202	4297	6499	SO:0001583	missense	0			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1109A>G	2.37:g.61009902A>G	ENSP00000238714:p.Tyr370Cys		B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.Y370C	ENST00000238714.3	37	c.1109	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	A	22.7	4.322881	0.81580	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	5.21	5.21	0.72293	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.85544	0.5721	M	0.92507	3.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89244	0.3586	9	0.87932	D	0	-22.4614	14.7577	0.69579	1.0:0.0:0.0:0.0	.	59;370	E9PEP5;Q9BWT3	.;PAPOG_HUMAN	C	370;59;38	.	ENSP00000238714:Y370C	Y	+	2	0	PAPOLG	60863406	1.000000	0.71417	0.966000	0.40874	0.997000	0.91878	9.225000	0.95219	1.972000	0.57404	0.528000	0.53228	TAT	PAPOLG	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	ENSG00000115421		0.289	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3	-	0	32	0	A	NM_022894		61009902	1	tier1	-	no_errors	ENST00000238714	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	G	G	61009902	A	G	61009902	3	3	111	1	0	0	0	0	1	0	0	0	11470	449	16	4	1155	4	PAPOLG	2	61009902	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09		61009902	182189471	21	30117											
REL	5966	genome.wustl.edu	37	chr2	61149071	61149071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcccaccccaccccaCgctcaggcaatacaaaccca	12	3	6	20	1	1	0	1	0	0	0	1	0	1	0	6	2	2	2	6	2	3	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:61149071C>T	ENST00000295025.8	+	11	1581	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C	REL_ENST00000394479.3_Missense_Mutation_p.R389C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	421					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R421C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CCCCACCCCACGCTCAGGCAA	0.507			A		Hodgkin Lymphoma																																			Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	1	Substitution - Missense(1)	large_intestine(1)											96	91	93					2																	61149071		2203	4300	6503	SO:0001583	missense	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1261C>T	2.37:g.61149071C>T	ENSP00000295025:p.Arg421Cys		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor	p.R421C	ENST00000295025.8	37	c.1261	CCDS1864.1	2	.	.	.	.	.	.	.	.	.	.	C	7.296	0.612119	0.14066	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.45668	0.89;0.9	5.45	3.3	0.37823	.	2.338690	0.01609	N	0.022420	T	0.33059	0.0850	N	0.19112	0.55	0.21967	N	0.999449	B;B	0.13594	0.004;0.008	B;B	0.04013	0.0;0.001	T	0.22347	-1.0219	10	0.54805	T	0.06	-13.0928	8.2695	0.31836	0.1607:0.7384:0.0:0.1009	.	389;421	Q17RU2;Q04864	.;REL_HUMAN	C	421;389	ENSP00000295025:R421C;ENSP00000377989:R389C	ENSP00000295025:R421C	R	+	1	0	REL	61002575	0.007000	0.16637	0.711000	0.30485	0.292000	0.27327	0.437000	0.21543	1.174000	0.42811	0.585000	0.79938	CGC	REL	-	NULL	ENSG00000162924		0.507	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	-	0	38	0	C	NM_002908		61149071	1	tier1	-	no_errors	ENST00000295025	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.290	T	T	61149071	C	T	61149071	3	4	111	1	0	0	0	0	1	0	0	0	13260	536	19	1	1303	1	REL	2	61149071	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	139169	61149071	182050302	22	30118											
EHBP1	23301	genome.wustl.edu	37	chr2	62998478	62998478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttttgttacaggatcCtcatgcggaagaatttgaag	10	15	10	6	1	1	2	1	1	0	1	2	4	2	4	1	2	3	2	1	2	4	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:62998478C>A	ENST00000263991.5	+	5	745	c.263C>A	c.(262-264)cCt>cAt	p.P88H	EHBP1_ENST00000405289.1_Missense_Mutation_p.P88H|EHBP1_ENST00000431489.1_Missense_Mutation_p.P88H|EHBP1_ENST00000405015.3_Missense_Mutation_p.P88H|EHBP1_ENST00000354487.3_Missense_Mutation_p.P88H	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	88						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTACAGGATCCTCATGCGGAA	0.308																																																	0													122	121	122					2																	62998478		2203	4296	6499	SO:0001583	missense	0			AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.263C>A	2.37:g.62998478C>A	ENSP00000263991:p.Pro88His		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.P88H	ENST00000263991.5	37	c.263	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174735	0.78452	.	.	ENSG00000115504	ENST00000405015;ENST00000413434;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.79475	2.455	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;P;D;D	0.91635	0.999;0.864;0.996;0.998	T	0.72364	-0.4316	10	0.87932	D	0	.	17.8282	0.88672	0.0:1.0:0.0:0.0	.	88;88;88;88	Q8NDI1-2;A8K930;Q8NDI1-3;Q8NDI1	.;.;.;EHBP1_HUMAN	H	88;56;88;88;88;88;88	ENSP00000384143:P88H;ENSP00000392192:P56H;ENSP00000384829:P88H;ENSP00000403783:P88H;ENSP00000263991:P88H;ENSP00000346482:P88H;ENSP00000385524:P88H	ENSP00000263991:P88H	P	+	2	0	EHBP1	62851982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.786000	0.69006	2.297000	0.77311	0.650000	0.86243	CCT	EHBP1	-	NULL	ENSG00000115504		0.308	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	-	0	123	0	C	NM_015252		62998478	1	tier1	-	no_errors	ENST00000263991	ensembl	human	known	74_37	missense	33.83	88	45	SNP	1.000	A	A	62998478	C	A	62998478	3	1	111	1	0	0	0	0	1	0	0	0	4989	681	24	3	277	3	EHBP1	2	62998478	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	1849407	62998478	180200895	23	30119											
REG3G	130120	genome.wustl.edu	37	chr2	79253229	79253229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgcagacactatgctgcctCccatggccctgcccagtgtg	6	9	10	16	1	0	1	0	0	0	1	2	1	1	1	4	1	3	2	4	1	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:79253229C>G	ENST00000272324.5	+	2	194	c.10C>G	c.(10-12)Ccc>Gcc	p.P4A	REG3G_ENST00000393897.2_Missense_Mutation_p.P4A|REG3G_ENST00000409471.1_Missense_Mutation_p.P4A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	4					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TATGCTGCCTCCCATGGCCCT	0.537																																																	0													184	138	154					2																	79253229		2203	4300	6503	SO:0001583	missense	0			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.10C>G	2.37:g.79253229C>G	ENSP00000272324:p.Pro4Ala		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P4A	ENST00000272324.5	37	c.10	CCDS1962.1	2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895957	0.33442	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.16457	4.4;4.4;2.34	4.3	1.38	0.22167	.	0.510651	0.16708	N	0.202818	T	0.17323	0.0416	M	0.75447	2.3	0.09310	N	1	P;P	0.37061	0.518;0.58	B;B	0.35114	0.164;0.196	T	0.10613	-1.0622	10	0.35671	T	0.21	.	6.1805	0.20468	0.0:0.6613:0.0:0.3387	.	4;4	Q3SYE6;Q6UW15	.;REG3G_HUMAN	A	4	ENSP00000377475:P4A;ENSP00000272324:P4A;ENSP00000387105:P4A	ENSP00000272324:P4A	P	+	1	0	REG3G	79106737	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.928000	0.01560	0.288000	0.22398	-0.142000	0.14014	CCC	REG3G	-	NULL	ENSG00000143954		0.537	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3G	HGNC	protein_coding	OTTHUMT00000328247.1	-	0	101	0	C	NM_198448		79253229	1	tier1	-	no_errors	ENST00000272324	ensembl	human	known	74_37	missense	39.29	51	33	SNP	0.000	G	G	79253229	C	G	79253229	3	3	111	1	0	0	0	0	1	0	0	0	13258	855	30	5	12	5	REG3G	2	79253229	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	16254751	79253229	163946144	24	30120											
REG3G	130120	genome.wustl.edu	37	chr2	79253939	79253939	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgtttttgtcaccaaaAtcctggatggatgcagatgt	9	14	10	8	0	1	1	1	0	0	1	2	3	2	3	3	2	1	2	3	2	2	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:79253939A>T	ENST00000272324.5	+	3	361	c.177A>T	c.(175-177)aaA>aaT	p.K59N	REG3G_ENST00000393897.2_Missense_Mutation_p.K59N|REG3G_ENST00000409471.1_Missense_Mutation_p.K59N	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	59	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTCACCAAAATCCTGGATGG	0.547																																																	0													97	95	96					2																	79253939		2203	4300	6503	SO:0001583	missense	0			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.177A>T	2.37:g.79253939A>T	ENSP00000272324:p.Lys59Asn		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K59N	ENST00000272324.5	37	c.177	CCDS1962.1	2	.	.	.	.	.	.	.	.	.	.	A	16.04	3.011031	0.54361	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.21361	2.01;2.01;2.12	5.05	3.92	0.45320	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.237054	0.30519	N	0.009449	T	0.45597	0.1350	M	0.86953	2.85	0.09310	N	1	D;D	0.67145	0.996;0.994	D;D	0.74023	0.971;0.982	T	0.35724	-0.9777	10	0.66056	D	0.02	.	6.9665	0.24625	0.9013:0.0:0.0987:0.0	.	59;59	Q3SYE6;Q6UW15	.;REG3G_HUMAN	N	59	ENSP00000377475:K59N;ENSP00000272324:K59N;ENSP00000387105:K59N	ENSP00000272324:K59N	K	+	3	2	REG3G	79107447	0.006000	0.16342	0.060000	0.19600	0.005000	0.04900	0.612000	0.24283	2.254000	0.74563	0.533000	0.62120	AAA	REG3G	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000143954		0.547	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3G	HGNC	protein_coding	OTTHUMT00000328247.1	-	0	45	0	A	NM_198448		79253939	1	tier1	-	no_errors	ENST00000272324	ensembl	human	known	74_37	missense	46.67	24	21	SNP	0.065	T	T	79253939	A	T	79253939	3	4	111	1	0	0	0	0	1	0	0	0	13258	98	4	5	183	5	REG3G	2	79253939	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	710	79253939	163945434	25	30121											
PROM2	150696	genome.wustl.edu	37	chr2	95940353	95940353	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagcacacactggctcTgctggctcccctgctgggcc	6	8	11	16	0	1	1	0	1	1	0	2	1	2	1	3	3	3	5	3	3	1	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:95940353T>A	ENST00000317620.9	+	1	153	c.20T>A	c.(19-21)cTg>cAg	p.L7Q	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.L7Q|PROM2_ENST00000542147.1_Missense_Mutation_p.L7Q|PROM2_ENST00000317668.4_Missense_Mutation_p.L7Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	7					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACACTGGCTCTGCTGGCTCCC	0.647																																																	0													37	41	40					2																	95940353		2203	4300	6503	SO:0001583	missense	0			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.20T>A	2.37:g.95940353T>A	ENSP00000318270:p.Leu7Gln		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	pfam_Prominin	p.L7Q	ENST00000317620.9	37	c.20	CCDS2012.1	2	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946526	0.34377	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.66995	-0.22;-0.22;-0.22;-0.24	5.12	2.64	0.31445	.	0.382752	0.19125	N	0.122066	T	0.37183	0.0994	N	0.08118	0	0.09310	N	1	P	0.47762	0.9	B	0.36244	0.22	T	0.31613	-0.9937	10	0.62326	D	0.03	-8.2833	4.5896	0.12301	0.1687:0.0945:0.0:0.7369	.	7	Q8N271	PROM2_HUMAN	Q	7	ENSP00000385716:L7Q;ENSP00000318520:L7Q;ENSP00000318270:L7Q;ENSP00000442542:L7Q	ENSP00000318270:L7Q	L	+	2	0	PROM2	95304080	0.005000	0.15991	0.105000	0.21289	0.054000	0.15201	0.827000	0.27421	0.773000	0.33404	0.402000	0.26972	CTG	PROM2	-	NULL	ENSG00000155066		0.647	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	-	0	73	0	T	NM_144707		95940353	1	tier1	-	no_errors	ENST00000317620	ensembl	human	known	74_37	missense	23.75	61	19	SNP	0.035	A	A	95940353	T	A	95940353	3	1	111	1	0	0	0	0	1	0	0	0	12598	1580	55	5	22	5	PROM2	2	95940353	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	16686414	95940353	147259020	26	30122											
EDAR	10913	genome.wustl.edu	37	chr2	109527234	109527234	+	Frame_Shift_Del	DEL	G	G	-																															aagccctggttcacagacctGgggcctctttcttctcctcg																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:109527234delG	ENST00000258443.2	-	8	1158	c.728delC	c.(727-729)ccafs	p.P243fs	EDAR_ENST00000409271.1_Frame_Shift_Del_p.P275fs|EDAR_ENST00000376651.1_Frame_Shift_Del_p.P275fs	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	243					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TCACAGACCTGGGGCCTCTTT	0.632																																																	0													72	67	69					2																	109527234		2203	4300	6503	SO:0001589	frameshift_variant	0			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"Tumor necrosis factor receptor superfamily"	2895	protein-coding gene	gene with protein product		604095	"ectodysplasin 1, anhidrotic receptor"	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.728delC	2.37:g.109527234delG	ENSP00000258443:p.Pro243fs		B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Frame_Shift_Del	DEL	pfam_Death_domain,superfamily_DEATH-like_dom	p.P275fs	ENST00000258443.2	37	c.824	CCDS2081.1	2																																																																																			EDAR	-	NULL	ENSG00000135960		0.632	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	HGNC	protein_coding	OTTHUMT00000253595.1		0	55	0	G			109527234	-1	tier1		no_errors	ENST00000376651	ensembl	human	known	74_37	frame_shift_del	8.00	23	2	DEL	0.995	-	-	109527234	G	-	109527234	7	5	111	1	0	1	0	1	0	0	0	0	4919	1348	47	0	638	0	EDAR	2	109527234	Frame_Shift_Del	DEL	G	TCGA-LN-A4A1-01A-21D-A27G-09	13586881	109527234	133672139	27	30123											
CNTNAP5	129684	genome.wustl.edu	37	chr2	125284959	125284959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgataaccagcccaaggaCctcatttcagttcagcaagg	13	9	8	11	0	3	1	3	1	0	0	3	2	3	2	3	2	3	2	3	2	3	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:125284959C>A	ENST00000431078.1	+	10	1936	c.1572C>A	c.(1570-1572)gaC>gaA	p.D524E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	524	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCCCAAGGACCTCATTTCAG	0.438																																																	0													140	134	136					2																	125284959		1877	4106	5983	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1572C>A	2.37:g.125284959C>A	ENSP00000399013:p.Asp524Glu		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D524E	ENST00000431078.1	37	c.1572	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137197	0.56936	.	.	ENSG00000155052	ENST00000431078	D	0.88741	-2.42	5.67	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.48286	D	0.000195	D	0.93291	0.7862	M	0.85859	2.78	0.36208	D	0.851145	D	0.89917	1.0	D	0.80764	0.994	D	0.92984	0.6409	10	0.42905	T	0.14	.	7.9328	0.29912	0.0:0.6959:0.0:0.3041	.	524	Q8WYK1	CNTP5_HUMAN	E	524	ENSP00000399013:D524E	ENSP00000399013:D524E	D	+	3	2	CNTNAP5	125001429	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.397000	0.34543	0.765000	0.33221	0.650000	0.86243	GAC	CNTNAP5	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000155052		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	-	0	86	0	C			125284959	1	tier1	-	no_errors	ENST00000431078	ensembl	human	known	74_37	missense	48.39	32	30	SNP	1.000	A	A	125284959	C	A	125284959	3	1	111	1	0	0	0	0	1	0	0	0	3657	506	18	3	1610	3	CNTNAP5	2	125284959	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	15757725	125284959	117914414	28	30124											
SAP130	79595	genome.wustl.edu	37	chr2	128712725	128712725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggggaccgctccaggaaTggttgaaagggcaacggctg	10	6	17	8	2	0	1	0	1	0	0	1	4	1	3	2	6	1	4	2	6	3	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:128712725T>C	ENST00000259235.3	-	15	2359	c.2230A>G	c.(2230-2232)Att>Gtt	p.I744V	SAP130_ENST00000259234.6_Missense_Mutation_p.I752V|SAP130_ENST00000357702.5_Missense_Mutation_p.I779V	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	744	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GCTCCAGGAATGGTTGAAAGG	0.607																																																	0													171	157	162					2																	128712725		2203	4300	6503	SO:0001583	missense	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2230A>G	2.37:g.128712725T>C	ENSP00000259235:p.Ile744Val		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.I779V	ENST00000259235.3	37	c.2335	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527951	0.44969	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.21	4.04	0.47022	.	0.272597	0.37053	N	0.002274	T	0.33411	0.0862	N	0.19112	0.55	0.33272	D	0.561083	B;B;B;B	0.20671	0.047;0.047;0.047;0.047	B;B;B;B	0.19391	0.025;0.025;0.025;0.025	T	0.34204	-0.9838	9	0.07325	T	0.83	-3.0007	12.3042	0.54891	0.0:0.0:0.1417:0.8583	.	779;744;309;381	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	V	779;744;752	.	ENSP00000259234:I752V	I	-	1	0	SAP130	128429195	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	2.597000	0.46214	0.812000	0.34326	0.514000	0.50259	ATT	SAP130	-	NULL	ENSG00000136715		0.607	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	-	0	44	0	T	NM_024545		128712725	-1	tier1	-	no_errors	ENST00000357702	ensembl	human	known	74_37	missense	28.30	38	15	SNP	1.000	C	C	128712725	T	C	128712725	3	2	111	1	0	0	0	0	1	0	0	0	13876	1464	51	4	940	4	SAP130	2	128712725	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	3427766	128712725	114486648	29	30125											
LRP2	4036	genome.wustl.edu	37	chr2	170027101	170027101	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtccccacagtcgttgtaAtggtcacagatccatcgcga	9	11	9	12	3	1	1	1	0	0	1	5	2	3	1	3	1	0	2	3	1	1	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:170027101A>G	ENST00000263816.3	-	59	11625	c.11340T>C	c.(11338-11340)caT>caC	p.H3780H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3780	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	AGTCGTTGTAATGGTCACAGA	0.507																																																	0													188	157	167					2																	170027101		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"Low density lipoprotein receptors"	6694	protein-coding gene	gene with protein product	"megalin"	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11340T>C	2.37:g.170027101A>G			O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.H3780	ENST00000263816.3	37	c.11340	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000081479		0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0	68	0	A	NM_004525		170027101	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	silent	66.67	15	30	SNP	0.998	G	G	170027101	A	G	170027101	2	3	111	1	0	0	0	0	0	0	0	1	8991	98	4	4		4	LRP2	2	170027101	Silent	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	41314376	170027101	73172272	30	30126											
SSFA2	6744	genome.wustl.edu	37	chr2	182766967	182766967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaactgaaaatgaacaaaGtaaagaaactcaaagtcatg	22	6	8	5	0	2	3	2	2	0	1	2	4	2	4	0	1	3	1	0	1	9	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:182766967G>T	ENST00000431877.2	+	8	1366	c.1187G>T	c.(1186-1188)aGt>aTt	p.S396I	SSFA2_ENST00000320370.7_Missense_Mutation_p.S396I|SSFA2_ENST00000409001.1_Missense_Mutation_p.S396I|SSFA2_ENST00000428267.2_Missense_Mutation_p.S243I	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	396						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AATGAACAAAGTAAAGAAACT	0.373																																																	0													66	71	69					2																	182766967		2200	4299	6499	SO:0001583	missense	0			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"cleavage signal-1 protein", "KRAS-induced actin-interacting protein", "sperm associated antigen 13"	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1187G>T	2.37:g.182766967G>T	ENSP00000388731:p.Ser396Ile		A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.S396I	ENST00000431877.2	37	c.1187	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895216	0.33442	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.15834	2.62;2.39;2.62;2.62	5.61	-0.819	0.10829	.	0.706131	0.14400	N	0.321967	T	0.18425	0.0442	L	0.57536	1.79	0.09310	N	1	D;P;P;D	0.53151	0.958;0.925;0.925;0.958	P;P;P;P	0.48227	0.563;0.571;0.571;0.571	T	0.12116	-1.0560	10	0.38643	T	0.18	-2.2829	5.6229	0.17467	0.4389:0.0:0.432:0.1291	.	243;396;396;396	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	I	396;396;396;243	ENSP00000388731:S396I;ENSP00000314669:S396I;ENSP00000387319:S396I;ENSP00000409867:S243I	ENSP00000314669:S396I	S	+	2	0	SSFA2	182475212	0.000000	0.05858	0.019000	0.16419	0.264000	0.26372	-0.304000	0.08199	0.111000	0.17947	0.650000	0.86243	AGT	SSFA2	-	NULL	ENSG00000138434		0.373	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	-	0	30	0	G	NM_006751		182766967	1	tier1	-	no_errors	ENST00000431877	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.000	T	T	182766967	G	T	182766967	3	4	111	1	0	0	0	0	1	0	0	0	15230	1029	36	3	1217	3	SSFA2	2	182766967	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	12739866	182766967	60432406	31	30127											
SPATS2L	26010	genome.wustl.edu	37	chr2	201281148	201281148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatatgacaggaaaaaaGaaggtaagattaatattgat	20	10	10	1	0	0	4	0	2	0	2	0	6	0	6	0	3	0	1	0	3	9	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:201281148G>T	ENST00000358677.5	+	5	442	c.195G>T	c.(193-195)aaG>aaT	p.K65N	SPATS2L_ENST00000409718.1_Missense_Mutation_p.K65N|SPATS2L_ENST00000409140.3_Missense_Mutation_p.K65N|SPATS2L_ENST00000360760.5_Missense_Mutation_p.K65N|SPATS2L_ENST00000451764.2_Missense_Mutation_p.K65N|SPATS2L_ENST00000409385.1_Missense_Mutation_p.K5N|SPATS2L_ENST00000409988.3_Missense_Mutation_p.K65N|SPATS2L_ENST00000409755.3_Missense_Mutation_p.K95N|SPATS2L_ENST00000409151.1_Missense_Mutation_p.K73N	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	65						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGGAAAAAAGAAGGTAAGAT	0.303																																																	0													84	78	80					2																	201281148		1806	4065	5871	SO:0001583	missense	0			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.195G>T	2.37:g.201281148G>T	ENSP00000351503:p.Lys65Asn		A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	pfam_DUF1387,superfamily_UBA-like	p.K95N	ENST00000358677.5	37	c.285	CCDS46483.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202566	0.79127	.	.	ENSG00000196141	ENST00000439084;ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000439395;ENST00000451764;ENST00000360760;ENST00000423749;ENST00000457757;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000421573;ENST00000449647;ENST00000438761	.	.	.	5.4	5.4	0.78164	UBA-like (1);	0.000000	0.64402	D	0.000006	T	0.75347	0.3837	M	0.61703	1.905	0.52501	D	0.99995	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.87578	0.998;0.997;0.994	T	0.77397	-0.2603	9	0.87932	D	0	-22.1926	12.1909	0.54270	0.0787:0.0:0.9213:0.0	.	95;65;65	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	N	65;65;65;65;5;65;65;65;65;65;65;65;65;95;73;65;65;60	.	ENSP00000351503:K65N	K	+	3	2	SPATS2L	200989393	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.109000	0.71528	2.521000	0.84997	0.650000	0.86243	AAG	SPATS2L	-	pfam_DUF1387,superfamily_UBA-like	ENSG00000196141		0.303	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SPATS2L	HGNC	protein_coding	OTTHUMT00000336208.3	-	0	60	0	G	NM_015535		201281148	1	tier1	-	no_errors	ENST00000409755	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	T	T	201281148	G	T	201281148	3	4	111	1	0	0	0	0	1	0	0	0	15067	933	33	3	205	3	SPATS2L	2	201281148	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	18514181	201281148	41918225	32	30128											
BMPR2	659	genome.wustl.edu	37	chr2	203420310	203420310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatgaaacaaatctgcAtaccacaaatgttgcacagt	16	8	6	11	0	1	2	0	1	1	1	1	2	1	2	2	0	4	3	2	0	4	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr2:203420310A>G	ENST00000374580.4	+	12	2461	c.1922A>G	c.(1921-1923)cAt>cGt	p.H641R	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	641					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACAAATCTGCATACCACAAAT	0.458																																																	0													105	101	102					2																	203420310		2203	4300	6503	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"primary pulmonary hypertension 1"	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1922A>G	2.37:g.203420310A>G	ENSP00000363708:p.His641Arg		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.H641R	ENST00000374580.4	37	c.1922	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762080	0.31228	.	.	ENSG00000204217	ENST00000374580	D	0.88818	-2.43	5.78	4.64	0.57946	.	0.000000	0.64402	D	0.000003	T	0.77445	0.4131	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71140	-0.4679	10	0.23891	T	0.37	.	9.3353	0.38047	0.8641:0.0:0.1359:0.0	.	641	Q13873	BMPR2_HUMAN	R	641	ENSP00000363708:H641R	ENSP00000363708:H641R	H	+	2	0	BMPR2	203128555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.480000	0.53172	2.204000	0.70986	0.528000	0.53228	CAT	BMPR2	-	NULL	ENSG00000204217		0.458	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	-	0	22	0	A	NM_001204		203420310	1	tier1	-	no_errors	ENST00000374580	ensembl	human	known	74_37	missense	30.00	7	3	SNP	0.994	G	G	203420310	A	G	203420310	3	3	111	1	0	0	0	0	1	0	0	0	1473	217	8	4	1968	4	BMPR2	2	203420310	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	2139162	203420310	39779063	33	30129											
SCAP	22937	genome.wustl.edu	37	chr3	47469124	47469124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggtcggtcacttgCagacacaactcctccaagct	10	7	10	14	1	1	1	1	0	0	1	4	1	3	1	2	3	4	4	2	3	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:47469124C>T	ENST00000265565.5	-	5	856	c.444G>A	c.(442-444)ctG>ctA	p.L148L	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	148					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGGTCACTTGCAGACACAACT	0.582																																					Pancreas(149;978 1908 29304 37806 46700)												0													65	59	61					3																	47469124		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"WD repeat domain containing"	30634	protein-coding gene	gene with protein product	"SREBP cleavage activating protein"	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.444G>A	3.37:g.47469124C>T			Q8N2E0|Q8WUA1	Silent	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L148	ENST00000265565.5	37	c.444	CCDS2755.2	3																																																																																			SCAP	-	NULL	ENSG00000114650		0.582	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0	45	0	C	NM_012235		47469124	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	silent	14.29	24	4	SNP	1.000	T	T	47469124	C	T	47469124	2	4	111	1	0	0	0	0	0	0	0	1	13922	697	25	3		3	SCAP	3	47469124	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09		47469124	150553306	34	30130											
MST1	63891	genome.wustl.edu	37	chr3	49725034	49725034	+	5'Flank	SNP	T	T	A																															cccagaacgccgcagcctcgTgtggggcgagtgttgagtcc																								rs142964215		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:49725034T>A	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.T29S|MST1_ENST00000545762.1_Missense_Mutation_p.T90S|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000449682.2_Missense_Mutation_p.T104S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CGCAGCCTCGTGTGGGGCGAG	0.617																																																	0													64	56	59					3																	49725034		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725034T>A	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T104S	ENST00000327697.6	37	c.310	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	T	8.993	0.978116	0.18812	.	.	ENSG00000173531	ENST00000449682;ENST00000383728;ENST00000545762	D;D;D	0.88664	-2.41;-2.41;-2.41	5.13	3.94	0.45596	.	0.366754	0.19842	N	0.104821	T	0.81389	0.4812	L	0.51422	1.61	0.09310	N	1	P;B	0.35192	0.489;0.019	B;B	0.30179	0.112;0.023	T	0.66284	-0.5962	10	0.12766	T	0.61	.	7.7821	0.29070	0.0:0.2455:0.0:0.7545	.	90;104	B7Z538;G3XAK1	.;.	S	104;29;90	ENSP00000414287:T104S;ENSP00000373234:T29S;ENSP00000437535:T90S	ENSP00000373234:T29S	T	-	1	0	MST1	49700038	0.183000	0.23186	0.007000	0.13788	0.244000	0.25665	0.974000	0.29436	0.858000	0.35431	0.482000	0.46254	ACG	MST1	-	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	ENSG00000173531		0.617	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346475.2	-	0	66	0	T	NM_022064		49725034	-1	tier1	rs142964215	no_errors	ENST00000449682	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.009	A	A	49725034	T	A	49725034	1	1	111	0	1	0	0	0	0	0	0	0	9928	1696	59	5		5	MST1	3	49725034	5'Flank	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	2255910	49725034	148297396	35	30131	112	2									
MST1	63891	genome.wustl.edu	37	chr3	49725038	49725038	+	5'Flank	SNP	G	G	C																															gaacgccgcagcctcgtgtgGggcgagtgttgagtccatgg																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:49725038G>C	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Silent_p.P27P|MST1_ENST00000545762.1_Silent_p.P88P|RNF123_ENST00000432042.1_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000449682.2_Silent_p.P102P	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P88L(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTCGTGTGGGGCGAGTGTT	0.622																																																	1	Substitution - Missense(1)	skin(1)											64	56	58					3																	49725038		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"RING-type (C3HC4) zinc fingers"	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725038G>C	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P102	ENST00000327697.6	37	c.306	CCDS33758.1	3																																																																																			MST1	-	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	ENSG00000173531		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346475.2	-	0	66	0	G	NM_022064		49725038	-1	tier1	rs116125078	no_errors	ENST00000449682	ensembl	human	known	74_37	silent	19.05	34	8	SNP	0.001	C	C	49725038	G	C	49725038	1	2	111	0	1	0	0	0	0	0	0	0	9928	1219	43	5		5	MST1	3	49725038	5'Flank	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	4	49725038	148297392	36	30132	112	2									
DNAH12	201625	genome.wustl.edu	37	chr3	57391464	57391464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataacagttttagttaactgGaacagccatcttcgatcatc	13	13	6	9	1	2	0	1	0	1	0	4	2	2	1	1	1	4	2	1	1	4	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:57391464G>T	ENST00000351747.2	-	41	6615	c.6435C>A	c.(6433-6435)ttC>ttA	p.F2145L		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	2145					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TAGTTAACTGGAACAGCCATC	0.388																																																	0													100	76	83					3																	57391464		692	1591	2283	SO:0001583	missense	0			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"Axonemal dyneins"	2943	protein-coding gene	gene with protein product		603340	"dynein, axonemal, heavy polypeptide 12", "dynein heavy chain domain 2", "dynein heavy domain 2", "dynein, axonemal, heavy chain 12-like", "dynein, axonemal, heavy chain 7-like"	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.6435C>A	3.37:g.57391464G>T	ENSP00000295937:p.Phe2145Leu		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.F2145L	ENST00000351747.2	37	c.6435		3	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771054	0.49680	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.37915	1.17;1.17	5.92	4.13	0.48395	.	.	.	.	.	T	0.32285	0.0824	M	0.64170	1.965	0.80722	D	1	P	0.52463	0.953	B	0.39217	0.294	T	0.15578	-1.0432	9	0.40728	T	0.16	.	10.1698	0.42902	0.2044:0.0:0.7956:0.0	.	2145	Q6ZR08	DYH12_HUMAN	L	2145;2164	ENSP00000295937:F2145L;ENSP00000418137:F2164L	ENSP00000295937:F2145L	F	-	3	2	DNAH12	57366504	1.000000	0.71417	0.890000	0.34922	0.549000	0.35272	4.073000	0.57570	1.509000	0.48786	-0.142000	0.14014	TTC	DNAH12	-	NULL	ENSG00000174844		0.388	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		-	0	49	0	G	NM_178504		57391464	-1	tier1	-	no_errors	ENST00000351747	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.972	T	T	57391464	G	T	57391464	3	4	111	1	0	0	0	0	1	0	0	0	4614	1165	41	3	2919	3	DNAH12	3	57391464	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	7666426	57391464	140630966	37	30133											
PIK3CB	5291	genome.wustl.edu	37	chr3	138400822	138400822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaccgaagatccaaacCagcttctttccagagtaaat	14	10	5	12	1	2	2	1	0	2	2	5	3	4	2	4	0	2	2	4	0	4	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:138400822C>T	ENST00000477593.1	-	18	2564	c.2491G>A	c.(2491-2493)Ggt>Agt	p.G831S	PIK3CB_ENST00000544716.1_Missense_Mutation_p.G282S|PIK3CB_ENST00000289153.2_Missense_Mutation_p.G831S			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	831	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGATCCAAACCAGCTTCTTTC	0.363																																																	0													118	105	109					3																	138400822		2203	4300	6503	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2491G>A	3.37:g.138400822C>T	ENSP00000418143:p.Gly831Ser		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.G831S	ENST00000477593.1	37	c.2491	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382547	0.82792	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	D;D;D	0.81739	-1.53;-1.53;-1.53	5.37	4.48	0.54585	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.098474	0.64402	D	0.000001	D	0.88665	0.6498	M	0.80847	2.515	0.47407	D	0.999418	D;D;D	0.71674	0.998;0.989;0.997	D;D;D	0.79108	0.992;0.962;0.986	D	0.88334	0.2970	10	0.44086	T	0.13	-10.0166	12.7762	0.57451	0.0:0.9221:0.0:0.0779	.	831;418;282	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	S	831;282;831	ENSP00000418143:G831S;ENSP00000438259:G282S;ENSP00000289153:G831S	ENSP00000289153:G831S	G	-	1	0	PIK3CB	139883512	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.556000	0.45862	2.494000	0.84150	0.585000	0.79938	GGT	PIK3CB	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000051382		0.363	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	-	0	40	0	C			138400822	-1	tier1	-	no_errors	ENST00000289153	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	T	T	138400822	C	T	138400822	3	4	111	1	0	0	0	0	1	0	0	0	11953	594	21	3	743	3	PIK3CB	3	138400822	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	81009358	138400822	59621608	38	30134											
PRR23A	729627	genome.wustl.edu	37	chr3	138724597	138724597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcggctgagccggctgCggagtccatctggagctccg	5	6	15	15	4	1	1	0	1	1	0	3	3	3	3	4	4	4	3	4	4	0	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:138724597C>T	ENST00000383163.2	-	1	513	c.514G>A	c.(514-516)Gca>Aca	p.A172T	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	172										endometrium(3)|kidney(1)|lung(7)	11						GAGCCGGCTGCGGAGTCCATC	0.662																																																	0													20	26	24					3																	138724597		692	1591	2283	SO:0001583	missense	0				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.514G>A	3.37:g.138724597C>T	ENSP00000372649:p.Ala172Thr			Missense_Mutation	SNP	pfam_UPF0572	p.A172T	ENST00000383163.2	37	c.514	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341080	0.41498	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.09	-0.996	0.10218	.	0.847613	0.09851	N	0.747615	T	0.28333	0.0700	L	0.34521	1.04	0.09310	N	1	B	0.16603	0.018	B	0.12156	0.007	T	0.24261	-1.0165	9	0.27082	T	0.32	.	8.221	0.31541	0.0:0.6332:0.2276:0.1391	.	172	A6NEV1	PR23A_HUMAN	T	172	.	ENSP00000372649:A172T	A	-	1	0	PRR23A	140207287	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.437000	0.06914	-0.229000	0.09854	-0.347000	0.07816	GCA	PRR23A	-	pfam_UPF0572	ENSG00000206260		0.662	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	HGNC	protein_coding	OTTHUMT00000361503.1	-	0	35	0	C	NM_001134659		138724597	-1	tier1	-	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	34.21	25	13	SNP	0.000	T	T	138724597	C	T	138724597	3	4	111	1	0	0	0	0	1	0	0	0	12636	768	27	1	290	1	PRR23A	3	138724597	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	323775	138724597	59297833	39	30135											
BCHE	590	genome.wustl.edu	37	chr3	165548781	165548781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagagcaaaagaaaccaaAagagaaatctgatgcatatg	20	6	9	6	0	1	4	0	1	1	3	1	5	1	4	1	0	4	3	1	0	7	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:165548781A>T	ENST00000264381.3	-	2	207	c.41T>A	c.(40-42)tTt>tAt	p.F14Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	14					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AAGAAACCAAAAGAGAAATCT	0.343																																																	0													44	40	41					3																	165548781		2203	4299	6502	SO:0001583	missense	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.41T>A	3.37:g.165548781A>T	ENSP00000264381:p.Phe14Tyr		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.F14Y	ENST00000264381.3	37	c.41	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	A	3.118	-0.181120	0.06380	.	.	ENSG00000114200	ENST00000264381	T	0.67698	-0.28	5.46	4.32	0.51571	Carboxylesterase, type B (1);	1.226500	0.05604	N	0.576974	T	0.51601	0.1684	N	0.14661	0.345	0.25768	N	0.984867	B	0.29378	0.243	B	0.35278	0.199	T	0.39482	-0.9612	10	0.07325	T	0.83	.	10.0389	0.42146	0.921:0.0:0.079:0.0	.	14	P06276	CHLE_HUMAN	Y	14	ENSP00000264381:F14Y	ENSP00000264381:F14Y	F	-	2	0	BCHE	167031475	0.005000	0.15991	0.018000	0.16275	0.358000	0.29455	2.321000	0.43805	2.077000	0.62373	0.460000	0.39030	TTT	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.343	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0	38	0	A			165548781	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	missense	17.78	36	8	SNP	0.007	T	T	165548781	A	T	165548781	3	4	111	1	0	0	0	0	1	0	0	0	1359	14	1	5	1779	5	BCHE	3	165548781	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	26824184	165548781	32473649	40	30136											
MRPL47	57129	genome.wustl.edu	37	chr3	179322325	179322325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacttaccctgtgcaggCagggacctgaggagttatta	10	10	11	10	0	1	1	1	1	0	0	1	3	1	3	2	3	2	3	2	3	3	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr3:179322325C>A	ENST00000476781.1	-	1	117	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	MRPL47_ENST00000259038.2_Missense_Mutation_p.A30S|NDUFB5_ENST00000472629.1_5'Flank|MRPL47_ENST00000392659.2_5'UTR|NDUFB5_ENST00000259037.3_5'Flank|NDUFB5_ENST00000493866.1_5'Flank	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	30					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CCTGTGCAGGCAGGGACCTGA	0.502																																																	0													78	84	82					3																	179322325		2203	4300	6503	SO:0001583	missense	0			AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"Mitochondrial ribosomal proteins / large subunits"	16652	protein-coding gene	gene with protein product	"nasopharyngeal carcinoma metastasis-related 1"	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.88G>T	3.37:g.179322325C>A	ENSP00000417602:p.Ala30Ser		Q6XRG1|Q8N5D1	Missense_Mutation	SNP	pfam_Ribosomal_L47_mit	p.A30S	ENST00000476781.1	37	c.88	CCDS3232.1	3	.	.	.	.	.	.	.	.	.	.	C	12.82	2.051211	0.36181	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	T;T	0.31247	1.5;1.5	5.12	1.23	0.21249	.	21.818500	0.00999	U	0.003652	T	0.28134	0.0694	L	0.51422	1.61	0.23298	N	0.997951	B;B	0.15473	0.013;0.008	B;B	0.12156	0.007;0.003	T	0.08889	-1.0700	10	0.23891	T	0.37	0.3177	4.0431	0.09760	0.1628:0.5726:0.0:0.2646	.	30;30	Q9HD33-2;Q9HD33	.;RM47_HUMAN	S	30	ENSP00000417602:A30S;ENSP00000259038:A30S	ENSP00000259038:A30S	A	-	1	0	MRPL47	180805019	0.000000	0.05858	0.001000	0.08648	0.553000	0.35397	-0.488000	0.06497	0.110000	0.17919	-0.145000	0.13849	GCC	MRPL47	-	NULL	ENSG00000136522		0.502	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL47	HGNC	protein_coding	OTTHUMT00000349623.1	-	0	33	0	C	NM_020409		179322325	-1	tier1	-	no_errors	ENST00000476781	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.002	A	A	179322325	C	A	179322325	3	1	111	1	0	0	0	0	1	0	0	0	9849	710	25	3	692	3	MRPL47	3	179322325	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	13773544	179322325	18700105	41	30137											
ATP8A1	10396	genome.wustl.edu	37	chr4	42425657	42425657	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtacaccacatcaaggagCagagatgccacagggatgaa	15	6	11	9	0	1	2	1	1	0	1	1	5	1	4	2	2	3	2	2	2	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:42425657C>G	ENST00000381668.5	-	34	3420	c.3189G>C	c.(3187-3189)ctG>ctC	p.L1063L	ATP8A1_ENST00000264449.10_Silent_p.L1048L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1063					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATCAAGGAGCAGAGATGCCA	0.383																																																	0													84	74	77					4																	42425657		2203	4300	6503	SO:0001819	synonymous_variant	0			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"ATPases / P-type"	13531	protein-coding gene	gene with protein product		609542	"ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3189G>C	4.37:g.42425657C>G			Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L1063	ENST00000381668.5	37	c.3189	CCDS3466.1	4																																																																																			ATP8A1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000124406		0.383	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP8A1	HGNC	protein_coding	OTTHUMT00000216861.2	-	0	29	0	C	NM_006095		42425657	-1	tier1	-	no_errors	ENST00000381668	ensembl	human	known	74_37	silent	76.19	5	16	SNP	1.000	G	G	42425657	C	G	42425657	2	3	111	1	0	0	0	0	0	0	0	1	1193	697	25	5		5	ATP8A1	4	42425657	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09		42425657	148728619	42	30138											
USP46	64854	genome.wustl.edu	37	chr4	53476753	53476753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccacatcaacagaaaGgtcaagaaaatcttcatctt	15	10	5	11	0	5	2	3	0	2	2	6	2	6	2	1	1	2	1	1	1	5	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:53476753G>T	ENST00000441222.3	-	5	776	c.592C>A	c.(592-594)Ctt>Att	p.L198I	USP46_ENST00000508499.1_Missense_Mutation_p.L191I|USP46_ENST00000451218.2_Missense_Mutation_p.L171I	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	198	USP.				adult feeding behavior (GO:0008343)|behavioral fear response (GO:0001662)|behavioral response to ethanol (GO:0048149)|protein deubiquitination (GO:0016579)|regulation of synaptic transmission, GABAergic (GO:0032228)|righting reflex (GO:0060013)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			TCAACAGAAAGGTCAAGAAAA	0.353																																																	0													79	75	77					4																	53476753		1970	4179	6149	SO:0001583	missense	0			AK022614	CCDS47053.1, CCDS47054.1	4q12	2008-02-05	2005-08-08		ENSG00000109189	ENSG00000109189		"Ubiquitin-specific peptidases"	20075	protein-coding gene	gene with protein product		612849	"ubiquitin specific protease 46"			12838346	Standard	NM_022832		Approved	FLJ12552	uc003gzn.3	P62068	OTTHUMG00000160640	ENST00000441222.3:c.592C>A	4.37:g.53476753G>T	ENSP00000407818:p.Leu198Ile		B7Z3Y7|B7Z675|B7Z7S3|G8ACC7|Q80V95|Q9H7U4|Q9H9T8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L198I	ENST00000441222.3	37	c.592	CCDS47053.1	4	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958177	0.92726	.	.	ENSG00000109189	ENST00000441222;ENST00000451218;ENST00000508499	T;T;T	0.09073	3.02;3.02;3.02	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.53938	D	0.000057	T	0.28532	0.0706	M	0.67569	2.06	0.80722	D	1	D;D;D;D	0.63046	0.992;0.986;0.981;0.976	D;D;D;P	0.70935	0.971;0.971;0.936;0.894	T	0.00089	-1.2088	10	0.42905	T	0.14	-13.1239	18.8634	0.92281	0.0:0.0:1.0:0.0	.	82;186;198;191	P62068-2;P62068-4;P62068;P62068-3	.;.;UBP46_HUMAN;.	I	198;171;191	ENSP00000407818:L198I;ENSP00000390102:L171I;ENSP00000423244:L191I	ENSP00000407818:L198I	L	-	1	0	USP46	53171510	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.629000	0.83207	2.699000	0.92147	0.591000	0.81541	CTT	USP46	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000109189		0.353	USP46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP46	HGNC	protein_coding	OTTHUMT00000361516.2	-	0	34	0	G	NM_022832		53476753	-1	tier1	-	no_errors	ENST00000441222	ensembl	human	known	74_37	missense	12.00	22	3	SNP	1.000	T	T	53476753	G	T	53476753	3	4	111	1	0	0	0	0	1	0	0	0	17126	1000	35	3	528	3	USP46	4	53476753	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	11051096	53476753	137677523	43	30139											
EPHA5	2044	genome.wustl.edu	37	chr4	66197758	66197758	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaatctctgtataccGgcccatcttgattgcctcta	10	13	6	12	1	3	2	0	2	3	0	4	2	3	2	3	1	2	1	3	1	5	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:66197758G>T	ENST00000273854.3	-	17	3541	c.2941C>A	c.(2941-2943)Cgg>Agg	p.R981R	EPHA5_ENST00000432638.2_Silent_p.R818R|EPHA5_ENST00000511294.1_Silent_p.R982R|EPHA5_ENST00000354839.4_Silent_p.R959R	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	981	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCTGTATACCGGCCCATCTTG	0.403										TSP Lung(17;0.13)																																							0													92	87	89					4																	66197758		2203	4300	6503	SO:0001819	synonymous_variant	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3389	protein-coding gene	gene with protein product		600004	"EphA5"			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2941C>A	4.37:g.66197758G>T			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R981	ENST00000273854.3	37	c.2941	CCDS3513.1	4																																																																																			EPHA5	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM	ENSG00000145242		0.403	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2		0	52	0	G	NM_004439		66197758	-1			no_errors	ENST00000273854	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	T	T	66197758	G	T	66197758	2	4	111	1	0	0	0	0	0	0	0	1	5186	1115	39	2		2	EPHA5	4	66197758	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	12721005	66197758	124956518	44	30140											
TMPRSS11A	339967	genome.wustl.edu	37	chr4	68812229	68812229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactgtcagggacaacacAatgagaacggcaatcatcca	16	5	8	12	1	2	1	2	1	0	1	3	3	3	2	2	2	2	1	2	2	4	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:68812229A>G	ENST00000334830.7	-	2	818	c.72T>C	c.(70-72)atT>atC	p.I24I	TMPRSS11A_ENST00000396188.2_Silent_p.I24I|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Silent_p.I23I			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	24					cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGGACAACACAATGAGAACGG	0.443																																					NSCLC(26;2 894 10941 14480 22546)												0													85	76	79					4																	68812229		2203	4300	6503	SO:0001819	synonymous_variant	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"Serine peptidases / Transmembrane"	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.72T>C	4.37:g.68812229A>G			J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Silent	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I24	ENST00000334830.7	37	c.72	CCDS3519.1	4																																																																																			TMPRSS11A	-	pirsf_Pept_S1A_HAT/DESC1	ENSG00000187054		0.443	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3	-	0	34	0	A	NM_182606		68812229	-1	tier1	-	no_errors	ENST00000334830	ensembl	human	known	74_37	silent	38.46	8	5	SNP	0.000	G	G	68812229	A	G	68812229	2	3	111	1	0	0	0	0	0	0	0	1	16286	126	5	4		4	TMPRSS11A	4	68812229	Silent	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	2614471	68812229	122342047	45	30141											
SHROOM3	57619	genome.wustl.edu	37	chr4	77691999	77691999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcggggcgtctagcccGtgttgagaatgtccttagcg	5	11	13	12	4	2	1	0	1	2	1	4	2	3	1	3	2	2	1	3	2	3	3	rs376718092		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:77691999G>T	ENST00000296043.6	+	10	6523	c.5570G>T	c.(5569-5571)cGt>cTt	p.R1857L	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1857	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGTCTAGCCCGTGTTGAGAAT	0.517																																																	0													126	126	126					4																	77691999		2203	4300	6503	SO:0001583	missense	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.5570G>T	4.37:g.77691999G>T	ENSP00000296043:p.Arg1857Leu		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1857L	ENST00000296043.6	37	c.5570	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790953	0.90367	.	.	ENSG00000138771	ENST00000296043	T	0.53423	0.62	5.53	5.53	0.82687	Apx/shroom, ASD2 (2);	0.000000	0.64402	D	0.000001	T	0.74015	0.3661	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77086	-0.2718	10	0.87932	D	0	-14.9629	19.6591	0.95857	0.0:0.0:1.0:0.0	.	1857	Q8TF72	SHRM3_HUMAN	L	1857	ENSP00000296043:R1857L	ENSP00000296043:R1857L	R	+	2	0	SHROOM3	77911023	1.000000	0.71417	0.972000	0.41901	0.456000	0.32438	9.657000	0.98554	2.879000	0.98667	0.650000	0.86243	CGT	SHROOM3	-	pfam_ASD2	ENSG00000138771		0.517	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2		0	30	0	G	NM_020859		77691999	1			no_errors	ENST00000296043	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T	T	77691999	G	T	77691999	3	4	111	1	0	0	0	0	1	0	0	0	14340	1145	40	2	5608	2	SHROOM3	4	77691999	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	8879770	77691999	113462277	46	30142											
CASP6	839	genome.wustl.edu	37	chr4	110624546	110624546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggagccccgaggccgaGctcattgcagccaaacgcgc	8	4	13	16	5	1	0	1	0	0	0	1	3	1	1	4	2	6	2	4	2	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:110624546G>A	ENST00000265164.2	-	1	83	c.6C>T	c.(4-6)agC>agT	p.S2S	CASP6_ENST00000352981.3_Silent_p.S2S|CASP6_ENST00000505486.1_Silent_p.S2S	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	2					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|epithelial cell differentiation (GO:0030855)|proteolysis (GO:0006508)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CCGAGGCCGAGCTCATTGCAG	0.726																																																	0													24	30	28					4																	110624546		2201	4296	6497	SO:0001819	synonymous_variant	0			U20536	CCDS3684.1, CCDS3685.1	4q25	2008-02-05	2005-08-17		ENSG00000138794	ENSG00000138794		"Caspases"	1507	protein-coding gene	gene with protein product		601532	"caspase 6, apoptosis-related cysteine protease"			8780721, 7796396	Standard	XM_005263271		Approved	MCH2	uc003hzn.1	P55212	OTTHUMG00000131914	ENST00000265164.2:c.6C>T	4.37:g.110624546G>A			Q9BQE7	Silent	SNP	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.S2	ENST00000265164.2	37	c.6	CCDS3684.1	4																																																																																			CASP6	-	NULL	ENSG00000138794		0.726	CASP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP6	HGNC	protein_coding	OTTHUMT00000254866.1	-	0	34	0	G	NM_001226		110624546	-1	tier1	-	no_errors	ENST00000265164	ensembl	human	known	74_37	silent	50.00	18	18	SNP	0.189	A	A	110624546	G	A	110624546	2	1	111	1	0	0	0	0	0	0	0	1	2682	962	34	3		3	CASP6	4	110624546	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	32932547	110624546	80529730	47	30143											
KIAA1109	84162	genome.wustl.edu	37	chr4	123258086	123258086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttgaaataccagatcctAtggaagaatcaacaacatca	18	10	5	8	0	2	3	2	1	0	2	3	4	3	4	2	1	3	0	2	1	7	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:123258086A>G	ENST00000264501.4	+	71	12434	c.12061A>G	c.(12061-12063)Atg>Gtg	p.M4021V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.M4021V			Q2LD37	K1109_HUMAN	KIAA1109	4021					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACCAGATCCTATGGAAGAATC	0.358																																																	0													219	187	197					4																	123258086		1880	4113	5993	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12061A>G	4.37:g.123258086A>G	ENSP00000264501:p.Met4021Val		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.M4021V	ENST00000264501.4	37	c.12061	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	A	11.70	1.715618	0.30413	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.28895	2.57;2.57;1.59	5.39	5.39	0.77823	.	0.306680	0.33199	N	0.005170	T	0.17874	0.0429	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.14023	0.01;0.005	T	0.10683	-1.0619	10	0.30078	T	0.28	.	6.3381	0.21306	0.6758:0.1328:0.0:0.1914	.	4020;4021	Q2LD37-4;Q2LD37	.;K1109_HUMAN	V	4021;4021;690	ENSP00000264501:M4021V;ENSP00000373390:M4021V;ENSP00000410874:M690V	ENSP00000264501:M4021V	M	+	1	0	KIAA1109	123477536	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.396000	0.44468	2.045000	0.60652	0.383000	0.25322	ATG	KIAA1109	-	NULL	ENSG00000138688		0.358	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0	33	0	A	NM_020797		123258086	1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	59.46	15	22	SNP	0.997	G	G	123258086	A	G	123258086	3	3	111	1	0	0	0	0	1	0	0	0	8235	449	16	4	12335	4	KIAA1109	4	123258086	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	12633540	123258086	67896190	48	30144											
LRBA	987	genome.wustl.edu	37	chr4	151791717	151791717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaatcaggatctggatgCtgtttatgtatcacctgagt	11	13	11	6	0	3	2	2	1	1	1	3	5	3	4	1	2	1	3	1	2	4	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:151791717C>T	ENST00000357115.3	-	20	2652	c.2409G>A	c.(2407-2409)caG>caA	p.Q803Q	LRBA_ENST00000507224.1_Silent_p.Q803Q|LRBA_ENST00000510413.1_Silent_p.Q803Q|LRBA_ENST00000535741.1_Silent_p.Q803Q	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	803						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.Q803Q(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GATCTGGATGCTGTTTATGTA	0.318																																																	1	Substitution - coding silent(1)	large_intestine(1)											118	116	117					4																	151791717		2203	4294	6497	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.2409G>A	4.37:g.151791717C>T			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.Q803	ENST00000357115.3	37	c.2409	CCDS3773.1	4																																																																																			LRBA	-	superfamily_ARM-type_fold	ENSG00000198589		0.318	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1		0	32	0	C			151791717	-1			no_errors	ENST00000357115	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.975	T	T	151791717	C	T	151791717	2	4	111	1	0	0	0	0	0	0	0	1	8966	796	28	3		3	LRBA	4	151791717	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	28533631	151791717	39362559	49	30145											
LRAT	9227	genome.wustl.edu	37	chr4	155665738	155665738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgacagacgacatggggcGcacgcagaaggtggtctcca	10	5	14	12	3	1	3	0	1	1	2	2	4	1	3	2	4	0	2	2	4	1	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr4:155665738G>A	ENST00000336356.3	+	2	513	c.260G>A	c.(259-261)cGc>cAc	p.R87H	LRAT_ENST00000507827.1_Missense_Mutation_p.R87H	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	87					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GACATGGGGCGCACGCAGAAG	0.597																																																	0													74	74	74					4																	155665738		2203	4300	6503	SO:0001583	missense	0			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.260G>A	4.37:g.155665738G>A	ENSP00000337224:p.Arg87His		A8K983|Q8N716	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.R87H	ENST00000336356.3	37	c.260	CCDS3789.1	4	.	.	.	.	.	.	.	.	.	.	G	6.634	0.485462	0.12641	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.45276	0.9;0.9	5.54	2.04	0.26737	.	0.642900	0.16085	N	0.230313	T	0.22859	0.0552	N	0.20685	0.6	0.20403	N	0.999909	B	0.18166	0.026	B	0.12156	0.007	T	0.21381	-1.0247	10	0.15066	T	0.55	-17.6934	7.1669	0.25695	0.1329:0.0:0.4661:0.4009	.	87	O95237	LRAT_HUMAN	H	87	ENSP00000426761:R87H;ENSP00000337224:R87H	ENSP00000337224:R87H	R	+	2	0	LRAT	155885188	0.930000	0.31532	0.572000	0.28498	0.104000	0.19210	0.305000	0.19254	0.501000	0.28013	0.655000	0.94253	CGC	LRAT	-	NULL	ENSG00000121207		0.597	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRAT	HGNC	protein_coding	OTTHUMT00000365246.1	-	0	20	0	G	NM_004744		155665738	1	tier1	-	no_errors	ENST00000336356	ensembl	human	known	74_37	missense	80.00	2	8	SNP	0.260	A	A	155665738	G	A	155665738	3	1	111	1	0	0	0	0	1	0	0	0	8965	1087	38	1	262	1	LRAT	4	155665738	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	3874021	155665738	35488538	50	30146											
DNAH5	1767	genome.wustl.edu	37	chr5	13700767	13700767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actattgttttctgcataaaTccttatgacaggcatcaact	12	15	5	9	0	2	1	1	1	1	0	3	1	3	1	1	1	2	3	1	1	5	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:13700767T>A	ENST00000265104.4	-	78	13809	c.13705A>T	c.(13705-13707)Att>Ttt	p.I4569F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4569					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCATAAATCCTTATGACA	0.383									Kartagener syndrome																																								0													164	159	161					5																	13700767		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.13705A>T	5.37:g.13700767T>A	ENSP00000265104:p.Ile4569Phe		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.I4569F	ENST00000265104.4	37	c.13705	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407056	0.83230	.	.	ENSG00000039139	ENST00000265104	T	0.08896	3.04	5.95	5.95	0.96441	Dynein heavy chain (1);	0.044796	0.85682	D	0.000000	T	0.12689	0.0308	L	0.31526	0.94	0.80722	D	1	P	0.41978	0.767	P	0.47941	0.562	T	0.02301	-1.1180	10	0.51188	T	0.08	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	4569	Q8TE73	DYH5_HUMAN	F	4569	ENSP00000265104:I4569F	ENSP00000265104:I4569F	I	-	1	0	DNAH5	13753767	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.793000	0.85851	2.281000	0.76405	0.528000	0.53228	ATT	DNAH5	-	pfam_Dynein_heavy_dom	ENSG00000039139		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0	23	0	T	NM_001369		13700767	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	29.63	19	8	SNP	1.000	A	A	13700767	T	A	13700767	3	1	111	1	0	0	0	0	1	0	0	0	4618	1435	50	5	177	5	DNAH5	5	13700767	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09		13700767	167214493	51	30147											
HEATR7B2	133558	genome.wustl.edu	37	chr5	41015519	41015519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcttgatctgaacctgCacgtcatcactttccagccc	10	11	6	14	1	4	2	2	2	2	0	5	3	5	2	3	0	3	1	3	0	2	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:41015519C>T	ENST00000399564.4	-	29	3396	c.2946G>A	c.(2944-2946)gtG>gtA	p.V982V	MROH2B_ENST00000506092.2_Silent_p.V537V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	982																	TCTGAACCTGCACGTCATCAC	0.393																																																	0													91	92	92					5																	41015519		1877	4097	5974	SO:0001819	synonymous_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2946G>A	5.37:g.41015519C>T			Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.V982	ENST00000399564.4	37	c.2946	CCDS47202.1	5																																																																																			MROH2B	-	superfamily_ARM-type_fold	ENSG00000171495		0.393	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MROH2B	HGNC	protein_coding	OTTHUMT00000367558.2	-	0	38	0	C	NM_173489		41015519	-1	tier1	-	no_errors	ENST00000399564	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.000	T	T	41015519	C	T	41015519	2	4	111	1	0	0	0	0	0	0	0	1	7062	697	25	3		3	HEATR7B2	5	41015519	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	27314752	41015519	139899741	52	30148											
PPAP2A	8611	genome.wustl.edu	37	chr5	54771153	54771153	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatactgaatggaatgattaTtccacctaataacgcataag	17	11	6	7	1	0	2	0	2	0	0	1	3	1	3	2	1	2	1	2	1	8	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:54771153T>C	ENST00000307259.8	-	2	604	c.184A>G	c.(184-186)Ata>Gta	p.I62V	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	62					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGAATGATTATTCCACCTAAT	0.363																																																	0													133	124	127					5																	54771153		2203	4300	6503	SO:0001583	missense	0			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.184A>G	5.37:g.54771153T>C	ENSP00000302229:p.Ile62Val		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.I62V	ENST00000307259.8	37	c.184	CCDS34159.1	5	.	.	.	.	.	.	.	.	.	.	T	3.934	-0.015640	0.07681	.	.	ENSG00000067113	ENST00000307259	T	0.74106	-0.81	5.95	4.79	0.61399	.	.	.	.	.	T	0.54951	0.1890	N	0.16567	0.415	0.25539	N	0.987198	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	9	0.02654	T	1	.	12.113	0.53850	0.0:0.0668:0.0:0.9332	.	62	O14494	LPP1_HUMAN	V	62	ENSP00000302229:I62V	ENSP00000302229:I62V	I	-	1	0	PPAP2A	54806910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.597000	0.61062	1.072000	0.40860	0.528000	0.53228	ATA	PPAP2A	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000067113		0.363	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2A	HGNC	protein_coding	OTTHUMT00000368073.1	-	0	45	0	T			54771153	-1	tier1	-	no_errors	ENST00000307259	ensembl	human	known	74_37	missense	42.86	12	9	SNP	1.000	C	C	54771153	T	C	54771153	3	2	111	1	0	0	0	0	1	0	0	0	12329	1493	52	4	690	4	PPAP2A	5	54771153	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	13755634	54771153	126144107	53	30149											
DDX4	54514	genome.wustl.edu	37	chr5	55110956	55110956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttttttgatcttgaatCggataaccatttagcacagc	10	16	6	9	1	1	2	0	2	1	0	3	3	2	3	2	1	3	1	2	1	3	8			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:55110956C>T	ENST00000505374.1	+	20	2035	c.1943C>T	c.(1942-1944)tCg>tTg	p.S648L	DDX4_ENST00000353507.5_Missense_Mutation_p.S614L|DDX4_ENST00000354991.5_Missense_Mutation_p.S614L|DDX4_ENST00000511853.1_Missense_Mutation_p.S499L|DDX4_ENST00000514278.2_Missense_Mutation_p.S628L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	648	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GATCTTGAATCGGATAACCAT	0.358																																																	0													164	161	162					5																	55110956		2203	4300	6503	SO:0001583	missense	0			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"DEAD-boxes"	18700	protein-coding gene	gene with protein product		605281	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1943C>T	5.37:g.55110956C>T	ENSP00000424838:p.Ser648Leu		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S648L	ENST00000505374.1	37	c.1943	CCDS3969.1	5	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123697	0.20959	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.54	4.67	0.58626	Helicase, C-terminal (1);	0.290764	0.33419	N	0.004937	D	0.90813	0.7115	L	0.55017	1.72	0.20563	N	0.999886	B;B;B;D	0.55385	0.184;0.318;0.287;0.971	B;B;B;P	0.44359	0.103;0.048;0.103;0.447	D	0.84758	0.0760	10	0.48119	T	0.1	-6.356	9.3327	0.38032	0.1433:0.7841:0.0:0.0726	.	628;499;614;648	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	614;628;648;614;499	ENSP00000334167:S614L;ENSP00000425359:S628L;ENSP00000424838:S648L;ENSP00000347087:S614L;ENSP00000423123:S499L	ENSP00000334167:S614L	S	+	2	0	DDX4	55146713	0.953000	0.32496	0.864000	0.33941	0.002000	0.02628	2.597000	0.46214	1.349000	0.45751	-0.258000	0.10820	TCG	DDX4	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000152670		0.358	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX4	HGNC	protein_coding	OTTHUMT00000214147.2	-	0	91	0	C	NM_024415		55110956	1	tier1	-	no_errors	ENST00000505374	ensembl	human	known	74_37	missense	31.73	71	33	SNP	0.288	T	T	55110956	C	T	55110956	3	4	111	1	0	0	0	0	1	0	0	0	4369	893	31	1	2058	1	DDX4	5	55110956	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	339803	55110956	125804304	54	30150											
CMYA5	202333	genome.wustl.edu	37	chr5	79095254	79095254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgagcgtccagccagaGtgggcatcctgctggactac	8	8	13	12	1	0	3	0	2	0	1	2	4	2	4	3	2	4	2	3	2	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:79095254G>C	ENST00000446378.2	+	13	12056	c.12025G>C	c.(12025-12027)Gtg>Ctg	p.V4009L	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	4009	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAGCCAGAGTGGGCATCCT	0.448																																																	0													139	129	132					5																	79095254		2010	4183	6193	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.12025G>C	5.37:g.79095254G>C	ENSP00000394770:p.Val4009Leu		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.V4009L	ENST00000446378.2	37	c.12025	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925778	0.52759	.	.	ENSG00000164309	ENST00000446378	T	0.74002	-0.8	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.80592	0.4652	L	0.58428	1.81	0.39989	D	0.975016	D	0.67145	0.996	D	0.65323	0.934	T	0.81385	-0.0957	9	0.59425	D	0.04	.	8.1392	0.31073	0.1799:0.0:0.8201:0.0	.	4009	Q8N3K9	CMYA5_HUMAN	L	4009	ENSP00000394770:V4009L	ENSP00000394770:V4009L	V	+	1	0	CMYA5	79131010	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	3.119000	0.50422	2.941000	0.99782	0.655000	0.94253	GTG	CMYA5	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY	ENSG00000164309		0.448	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	-	0	79	0	G	NM_153610		79095254	1	tier1	-	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	36.49	47	27	SNP	1.000	C	C	79095254	G	C	79095254	3	2	111	1	0	0	0	0	1	0	0	0	3597	1029	36	5	12075	5	CMYA5	5	79095254	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	23984298	79095254	101820006	55	30151											
GPR98	84059	genome.wustl.edu	37	chr5	89948338	89948338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttccagataaaattcctGaattcaatgaattttatttc	13	18	3	7	0	1	3	1	2	0	1	4	3	3	3	2	0	0	0	2	0	6	8			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:89948338G>A	ENST00000405460.2	+	19	3688	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1198	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAAAATTCCTGAATTCAATGA	0.323																																																	0													62	56	58					5																	89948338		1835	4090	5925	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3592G>A	5.37:g.89948338G>A	ENSP00000384582:p.Glu1198Lys		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1198K	ENST00000405460.2	37	c.3592	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.535454	0.96460	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.61274	0.12	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.69663	0.3136	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	T	0.70008	-0.4990	10	0.87932	D	0	.	20.6525	0.99598	0.0:0.0:1.0:0.0	.	1198	Q8WXG9	GPR98_HUMAN	K	1198	ENSP00000384582:E1198K	ENSP00000296619:E1198K	E	+	1	0	GPR98	89984094	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.592000	0.98245	2.890000	0.99128	0.585000	0.79938	GAA	GPR98	-	NULL	ENSG00000164199		0.323	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0	34	0	G	NM_032119		89948338	1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	A	A	89948338	G	A	89948338	3	1	111	1	0	0	0	0	1	0	0	0	6748	1291	45	3	3666	3	GPR98	5	89948338	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	10853084	89948338	90966922	56	30152											
ANKRD32	84250	genome.wustl.edu	37	chr5	93990336	93990336	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttactttgctatatgcagaAagaaatgaagaattctattt	15	16	6	4	0	1	4	0	1	1	3	1	4	1	4	0	0	3	2	0	0	8	8			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:93990336A>G	ENST00000265140.5	+	9	1453	c.1034A>G	c.(1033-1035)aAa>aGa	p.K345R		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	345						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TATATGCAGAAAGAAATGAAG	0.313																																																	0													85	76	79					5																	93990336		692	1587	2279	SO:0001630	splice_region_variant	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"Ankyrin repeat domain containing"	25408	protein-coding gene	gene with protein product			"BRCT domain containing 1"	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1033-1A>G	5.37:g.93990336A>G			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K345R	ENST00000265140.5	37	c.1034	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	A	10.36	1.328352	0.24080	.	.	ENSG00000133302	ENST00000265140	T	0.61392	0.11	4.82	3.57	0.40892	.	0.152789	0.30820	N	0.008809	T	0.47322	0.1439	L	0.50333	1.59	0.25123	N	0.990629	B	0.26635	0.155	B	0.24155	0.051	T	0.47407	-0.9120	10	0.62326	D	0.03	.	7.3168	0.26505	0.8046:0.0:0.0:0.1954	.	345	Q9BQI6	ANR32_HUMAN	R	345	ENSP00000265140:K345R	ENSP00000265140:K345R	K	+	2	0	ANKRD32	94016092	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	1.795000	0.38784	2.148000	0.66965	0.533000	0.62120	AAA	ANKRD32	-	NULL	ENSG00000133302		0.313	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1		0	60	0	A	NM_032290	Missense_Mutation	93990336	1			no_errors	ENST00000265140	ensembl	human	known	74_37	missense	10.00	45	5	SNP	1.000	G	G	93990336	A	G	93990336	5	3	111	1	0	0	0	0	0	0	1	0	660	28	1	4	1064	4	ANKRD32	5	93990336	Splice_Site	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	4041998	93990336	86924924	57	30153											
CAST	831	genome.wustl.edu	37	chr5	96098065	96098065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctggagccccacccCgtgatacctcggtaagcagc	9	5	10	17	2	0	1	0	1	0	0	1	2	0	2	6	2	5	3	6	2	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:96098065C>T	ENST00000341926.3	+	23	1834	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C	CAST_ENST00000504465.1_Missense_Mutation_p.R486C|CAST_ENST00000511782.1_Missense_Mutation_p.R544C|CAST_ENST00000508608.1_Missense_Mutation_p.R604C|CAST_ENST00000359176.4_Missense_Mutation_p.R622C|CAST_ENST00000509903.1_Missense_Mutation_p.R523C|CAST_ENST00000508579.1_Missense_Mutation_p.R273C|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000395813.1_Missense_Mutation_p.R641C|CAST_ENST00000338252.3_Missense_Mutation_p.R545C|CAST_ENST00000515663.1_Missense_Mutation_p.R281C|CAST_ENST00000508830.1_Missense_Mutation_p.R641C|ERAP1_ENST00000296754.3_3'UTR|CAST_ENST00000325674.7_Missense_Mutation_p.R606C|CAST_ENST00000395812.2_Missense_Mutation_p.R600C|CAST_ENST00000511049.1_Missense_Mutation_p.R544C|CAST_ENST00000309190.5_Missense_Mutation_p.R536C|CAST_ENST00000510756.1_Missense_Mutation_p.R619C			P20810	ICAL_HUMAN	calpastatin	558					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AGCCCCACCCCGTGATACCTC	0.438																																																	0													43	46	45					5																	96098065		2203	4300	6503	SO:0001583	missense	0			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1672C>T	5.37:g.96098065C>T	ENSP00000339914:p.Arg558Cys		B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	pfam_Prot_inh_calpain	p.R641C	ENST00000341926.3	37	c.1921		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.69|19.69	3.874190|3.874190	0.72180|0.72180	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000510500|ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000515663	T|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.18960|0.18016	2.18|2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	4.32|4.32	4.32|4.32	0.51571|0.51571	.|.	.|0.507974	.|0.23213	.|N	.|0.050648	T|T	0.25754|0.25754	0.0627|0.0627	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;P;D;P;D;P;P;D;P;D;P;P	.|0.76494	.|0.977;0.972;0.964;0.991;0.964;0.931;0.977;0.949;0.999;0.782;0.949;0.989;0.949;0.965;0.843;0.949	.|P;P;P;P;P;P;P;P;P;P;P;P;P;B;B;P	.|0.59424	.|0.66;0.708;0.571;0.849;0.571;0.512;0.629;0.495;0.857;0.512;0.529;0.764;0.597;0.42;0.378;0.495	T|T	0.00664|0.00664	-1.1620|-1.1620	7|10	0.45353|0.72032	T|D	0.12|0.01	-8.4219|-8.4219	12.5955|12.5955	0.56468|0.56468	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|486;604;281;309;281;544;523;536;517;558;606;600;622;619;641;545	.|E9PDE4;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2	.|.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.	L|C	315|545;641;641;622;606;600;619;604;558;544;536;558;486;523;544;273;281	ENSP00000424160:P315L|ENSP00000343421:R545C;ENSP00000425721:R641C;ENSP00000379158:R641C;ENSP00000352098:R622C;ENSP00000320319:R606C;ENSP00000379157:R600C;ENSP00000422176:R619C;ENSP00000422677:R604C;ENSP00000339914:R558C;ENSP00000421130:R544C;ENSP00000312523:R536C;ENSP00000422325:R558C;ENSP00000425670:R486C;ENSP00000426946:R523C;ENSP00000423638:R544C;ENSP00000425787:R273C;ENSP00000422929:R281C	ENSP00000432878:P300L|ENSP00000312523:R536C	P|R	+|+	2|1	0|0	CAST|CAST	96123821|96123821	0.022000|0.022000	0.18835|0.18835	0.605000|0.605000	0.28930|0.28930	0.432000|0.432000	0.31715|0.31715	3.287000|3.287000	0.51732|0.51732	2.692000|2.692000	0.91855|0.91855	0.655000|0.655000	0.94253|0.94253	CCG|CGT	CAST	-	pfam_Prot_inh_calpain	ENSG00000153113		0.438	CAST-004	KNOWN	basic	protein_coding	CAST	HGNC	protein_coding	OTTHUMT00000250199.2	-	0	38	0	C	NM_173062		96098065	1	tier1	-	no_errors	ENST00000395813	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.581	T	T	96098065	C	T	96098065	3	4	111	1	0	0	0	0	1	0	0	0	2691	652	23	1	2143	1	CAST	5	96098065	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	2107729	96098065	84817195	58	30154											
PPP2CA	5515	genome.wustl.edu	37	chr5	133537546	133537546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatccacatacctgcccaTccaccaaggcagtgagagga	13	6	9	13	0	0	2	0	1	0	2	2	4	2	3	5	2	2	1	5	2	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:133537546T>C	ENST00000481195.1	-	3	759	c.479A>G	c.(478-480)gAt>gGt	p.D160G	PPP2CA_ENST00000231504.5_5'Flank|CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	160					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	TACCTGCCCATCCACCAAGGC	0.363																																																	0													67	63	64					5																	133537546		2203	4300	6503	SO:0001583	missense	0				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"	9299	protein-coding gene	gene with protein product	"protein phosphatase 2A catalytic subunit, alpha isoform"	176915	"protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.479A>G	5.37:g.133537546T>C	ENSP00000418447:p.Asp160Gly		P05323|P13197	Missense_Mutation	SNP	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.D160G	ENST00000481195.1	37	c.479	CCDS4173.1	5	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241887	0.79912	.	.	ENSG00000113575	ENST00000481195;ENST00000522385	T;T	0.05025	3.51;3.51	5.98	5.98	0.97165	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.10637	0.0260	L	0.55743	1.74	0.80722	D	1	B	0.11235	0.004	B	0.20767	0.031	T	0.02477	-1.1153	10	0.87932	D	0	-18.8267	16.4696	0.84102	0.0:0.0:0.0:1.0	.	160	P67775	PP2AA_HUMAN	G	160;95	ENSP00000418447:D160G;ENSP00000430869:D95G	ENSP00000418447:D160G	D	-	2	0	PPP2CA	133565445	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.031000	0.88826	2.289000	0.77006	0.482000	0.46254	GAT	PPP2CA	-	pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000113575		0.363	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2CA	HGNC	protein_coding	OTTHUMT00000251165.1	-	0	44	0	T	NM_002715		133537546	-1	tier1	-	no_errors	ENST00000481195	ensembl	human	known	74_37	missense	29.82	40	17	SNP	1.000	C	C	133537546	T	C	133537546	3	2	111	1	0	0	0	0	1	0	0	0	12422	1435	50	4	470	4	PPP2CA	5	133537546	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	37439481	133537546	47377714	59	30155											
PCDHA1	56147	genome.wustl.edu	37	chr5	140168121	140168121	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcgttggggagctggtCgaactcacagcagaggcggc	8	5	17	11	4	1	1	1	0	0	1	2	3	1	2	0	5	4	3	0	5	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:140168121C>A	ENST00000504120.2	+	1	2246	c.2246C>A	c.(2245-2247)tCg>tAg	p.S749*	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Nonsense_Mutation_p.S749*	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	749	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTGGTCGAACTCACAG	0.647																																																	0													43	40	41					5																	140168121		2203	4300	6503	SO:0001587	stop_gained	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2246C>A	5.37:g.140168121C>A	ENSP00000420840:p.Ser749*		O75288|Q9NRT7	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S749*	ENST00000504120.2	37	c.2246	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	18.08	3.544227	0.65198	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	.	.	.	4.16	4.16	0.48862	.	0.000000	0.35555	U	0.003121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4938	0.84209	0.0:1.0:0.0:0.0	.	.	.	.	X	749	.	ENSP00000367373:S749X	S	+	2	0	PCDHA1	140148305	0.937000	0.31787	0.896000	0.35187	0.118000	0.20060	2.398000	0.44486	2.041000	0.60428	0.644000	0.83932	TCG	PCDHA1	-	NULL	ENSG00000204970		0.647	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	-	0	58	0	C	NM_018900		140168121	1	tier1	-	no_errors	ENST00000504120	ensembl	human	known	74_37	nonsense	37.93	36	22	SNP	0.941	A	A	140168121	C	A	140168121	4	1	111	1	0	0	0	0	0	1	0	0	11558	893	31	2	2248	2	PCDHA1	5	140168121	Nonsense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	6630575	140168121	40747139	60	30156											
ITK	3702	genome.wustl.edu	37	chr5	156671417	156671417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgctgcagagaccctgCtgggcatgtgtctggatgtg	5	14	14	8	0	1	1	0	0	1	1	1	3	1	2	1	2	3	4	1	2	0	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr5:156671417C>T	ENST00000422843.3	+	13	1530	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGAGACCCTGCTGGGCATGTG	0.572			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0													94	91	92					5																	156671417		2203	4300	6503	SO:0001819	synonymous_variant	0			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1378C>T	5.37:g.156671417C>T			B2R752|Q32ML7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.L460	ENST00000422843.3	37	c.1378	CCDS4336.1	5																																																																																			ITK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113263		0.572	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	HGNC	protein_coding	OTTHUMT00000252569.2	-	0	52	0	C			156671417	1	tier1	-	no_errors	ENST00000422843	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.997	T	T	156671417	C	T	156671417	2	4	111	1	0	0	0	0	0	0	0	1	7936	796	28	3		3	ITK	5	156671417	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	16503296	156671417	24243843	61	30157											
CD83	9308	genome.wustl.edu	37	chr6	14131847	14131847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaatggttctttcgacGcccccaatgaaaggccctat	11	9	9	12	2	1	1	0	1	1	0	2	2	1	1	3	3	0	2	3	3	5	3	rs147342996		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:14131847G>A	ENST00000379153.3	+	3	421	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	84	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TTCTTTCGACGCCCCCAATGA	0.542																																																	0													129	120	123					6																	14131847		2203	4300	6503	SO:0001583	missense	0			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	1703	protein-coding gene	gene with protein product		604534	"CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)", "CD83 molecule "			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.250G>A	6.37:g.14131847G>A	ENSP00000368450:p.Ala84Thr		Q5THX9	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	p.A84T	ENST00000379153.3	37	c.250	CCDS4532.1	6	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365692	0.61513	.	.	ENSG00000112149	ENST00000379153	T	0.63744	-0.06	5.39	3.52	0.40303	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.687206	0.14432	N	0.319979	T	0.36744	0.0978	M	0.65498	2.005	0.09310	N	1	B	0.18863	0.031	B	0.18871	0.023	T	0.29150	-1.0021	10	0.29301	T	0.29	-0.3608	7.8185	0.29274	0.2047:0.0:0.7953:0.0	.	84	Q01151	CD83_HUMAN	T	84	ENSP00000368450:A84T	ENSP00000368450:A84T	A	+	1	0	CD83	14239826	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	1.033000	0.30191	0.696000	0.31696	-0.345000	0.07892	GCC	CD83	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000112149		0.542	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD83	HGNC	protein_coding	OTTHUMT00000039916.1		0	62	0	G			14131847	1			no_errors	ENST00000379153	ensembl	human	known	74_37	missense	5.56	51	3	SNP	0.003	A	A	14131847	G	A	14131847	3	1	111	1	0	0	0	0	1	0	0	0	3048	1087	38	1	260	1	CD83	6	14131847	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		14131847	156983220	62	30158											
KIF13A	63971	genome.wustl.edu	37	chr6	17781431	17781431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcactgtgctttatgaTgggcaggtagaaaaactggc	12	11	11	7	0	2	2	2	1	0	1	2	2	2	2	0	3	2	3	0	3	4	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:17781431T>C	ENST00000259711.6	-	30	3751	c.3646A>G	c.(3646-3648)Atc>Gtc	p.I1216V	KIF13A_ENST00000378826.2_Missense_Mutation_p.I1216V|KIF13A_ENST00000378843.2_Missense_Mutation_p.I1203V|KIF13A_ENST00000378816.5_Missense_Mutation_p.I1216V|KIF13A_ENST00000378814.5_Missense_Mutation_p.I1203V	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1216					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGCTTTATGATGGGCAGGTAG	0.507																																																	0													99	99	99					6																	17781431		1916	4141	6057	SO:0001583	missense	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"Kinesins"	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3646A>G	6.37:g.17781431T>C	ENSP00000259711:p.Ile1216Val		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I1216V	ENST00000259711.6	37	c.3646	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579112	0.86645	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	T;T;T;T;T;T	0.74737	-0.85;1.5;-0.87;-0.84;-0.85;-0.84	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.85299	2.745	0.80722	D	1	P;D;P;P	0.55385	0.911;0.971;0.944;0.949	P;P;P;P	0.60415	0.55;0.816;0.874;0.703	D	0.86482	0.1792	10	0.87932	D	0	.	15.1711	0.72875	0.0:0.0:0.0:1.0	.	1203;1216;1216;1203	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	V	1203;220;1216;1216;1203;1216;214	ENSP00000368091:I1203V;ENSP00000425616:I220V;ENSP00000259711:I1216V;ENSP00000368103:I1216V;ENSP00000368120:I1203V;ENSP00000368093:I1216V	ENSP00000259711:I1216V	I	-	1	0	KIF13A	17889410	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.128000	0.65567	0.459000	0.35465	ATC	KIF13A	-	pfam_Kinesin-like	ENSG00000137177		0.507	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	-	0	38	0	T			17781431	-1	tier1	-	no_errors	ENST00000259711	ensembl	human	known	74_37	missense	15.56	38	7	SNP	1.000	C	C	17781431	T	C	17781431	3	2	111	1	0	0	0	0	1	0	0	0	8301	1464	51	4	1836	4	KIF13A	6	17781431	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	3649584	17781431	153333636	63	30159											
TRIM38	10475	genome.wustl.edu	37	chr6	25983525	25983525	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttactgccttcccctgtgtCttgggttgtgaaggcttcac	4	16	10	11	0	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	2	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:25983525C>G	ENST00000357085.3	+	8	1484	c.1008C>G	c.(1006-1008)gtC>gtG	p.V336V	TRIM38_ENST00000349458.3_Silent_p.V336V|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	336	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TCCCCTGTGTCTTGGGTTGTG	0.478																																																	0													119	116	117					6																	25983525		2203	4300	6503	SO:0001819	synonymous_variant	0			U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	10059	protein-coding gene	gene with protein product			"ring finger protein 15", "tripartite motif-containing 38"	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1008C>G	6.37:g.25983525C>G			B2R862	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.V336	ENST00000357085.3	37	c.1008	CCDS4568.1	6																																																																																			TRIM38	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000112343		0.478	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM38	HGNC	protein_coding	OTTHUMT00000040076.2	-	0	121	0	C			25983525	1	tier1	-	no_errors	ENST00000349458	ensembl	human	known	74_37	silent	32.53	56	27	SNP	0.993	G	G	25983525	C	G	25983525	2	3	111	1	0	0	0	0	0	0	0	1	16560	900	32	5		5	TRIM38	6	25983525	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	8202094	25983525	145131542	64	30160											
HIST1H1B	3009	genome.wustl.edu	37	chr6	27834657	27834657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcagccgccttcttggcCtttgcagctttaggttttgc	3	16	11	11	1	1	0	0	0	1	0	1	0	1	0	3	3	4	4	3	3	1	8	rs200074459		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:27834657C>A	ENST00000331442.3	-	1	702	c.651G>T	c.(649-651)aaG>aaT	p.K217N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	217				Missing (in Ref. 5; AA sequence). {ECO:0000305}.	chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CCTTCTTGGCCTTTGCAGCTT	0.527																																																	0													54	49	51					6																	27834657		2203	4300	6503	SO:0001583	missense	0			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"Histones / Replication-dependent"	4719	protein-coding gene	gene with protein product		142711	"H1 histone family, member 5", "histone 1, H1b"	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.651G>T	6.37:g.27834657C>A	ENSP00000330074:p.Lys217Asn		Q14529|Q3MJ42	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5	p.K217N	ENST00000331442.3	37	c.651	CCDS4635.1	6	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271821	0.40194	.	.	ENSG00000184357	ENST00000331442	T	0.04758	3.56	4.79	4.79	0.61399	.	0.053637	0.64402	D	0.000001	T	0.01029	0.0034	N	0.08118	0	0.45899	D	0.998748	P	0.44627	0.839	B	0.38056	0.264	T	0.63717	-0.6574	10	0.21014	T	0.42	-5.6145	9.6232	0.39734	0.0:0.8364:0.0:0.1636	.	217	P16401	H15_HUMAN	N	217	ENSP00000330074:K217N	ENSP00000330074:K217N	K	-	3	2	HIST1H1B	27942636	0.875000	0.30112	0.641000	0.29422	0.763000	0.43281	1.065000	0.30592	2.600000	0.87896	0.655000	0.94253	AAG	HIST1H1B	-	NULL	ENSG00000184357		0.527	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1		0	54	0	C	NM_005322		27834657	-1			no_errors	ENST00000331442	ensembl	human	known	74_37	missense	5.45	52	3	SNP	0.995	A	A	27834657	C	A	27834657	3	1	111	1	0	0	0	0	1	0	0	0	7150	680	24	3	33	3	HIST1H1B	6	27834657	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	1851132	27834657	143280410	65	30161											
CLIC1	1192	genome.wustl.edu	37	chr6	31704068	31704068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caattcgacctgcggttgttCttcagccatggttgcgtcgg	5	13	12	11	4	2	0	1	0	1	0	4	1	2	0	2	3	3	3	2	3	1	5	rs147567766	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:31704068C>G	ENST00000375780.2	-	2	582	c.10G>C	c.(10-12)Gaa>Caa	p.E4Q	CLIC1_ENST00000375784.3_Missense_Mutation_p.E4Q|CLIC1_ENST00000375779.2_Missense_Mutation_p.E4Q|CLIC1_ENST00000395892.1_Missense_Mutation_p.E4Q			O00299	CLIC1_HUMAN	chloride intracellular channel 1	4	Required for insertion into the membrane.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TGCGGTTGTTCTTCAGCCATG	0.602																																																	0													134	104	115					6																	31704068		1511	2709	4220	SO:0001583	missense	0			U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"Ion channels / Chloride channels : Intracellular"	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.10G>C	6.37:g.31704068C>G	ENSP00000364935:p.Glu4Gln		Q15089|Q502X1	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.E4Q	ENST00000375780.2	37	c.10	CCDS4719.1	6	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473400	0.43942	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.53	4.53	0.55603	Thioredoxin-like fold (1);	0.232085	0.35235	U	0.003350	T	0.04272	0.0118	N	0.08118	0	0.40641	D	0.981949	P	0.37525	0.598	B	0.31614	0.133	T	0.24190	-1.0167	10	0.10377	T	0.69	-9.5843	12.6218	0.56607	0.0:1.0:0.0:0.0	.	4	O00299	CLIC1_HUMAN	Q	4	ENSP00000364940:E4Q;ENSP00000364934:E4Q;ENSP00000364935:E4Q;ENSP00000379229:E4Q	ENSP00000364934:E4Q	E	-	1	0	CLIC1	31812047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.425000	0.44723	2.353000	0.79882	0.591000	0.81541	GAA	CLIC1	-	NULL	ENSG00000213719		0.602	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC1	HGNC	protein_coding	OTTHUMT00000076167.3		0	33	0	C	NM_001288		31704068	-1			no_errors	ENST00000375779	ensembl	human	known	74_37	missense	6.00	46	3	SNP	1.000	G	G	31704068	C	G	31704068	3	3	111	1	0	0	0	0	1	0	0	0	3532	922	32	5	739	5	CLIC1	6	31704068	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	3869411	31704068	139410999	66	30162											
RGL2	5863	genome.wustl.edu	37	chr6	33264024	33264024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtaagaagctctcaagccgGtcaagctgacccttggcctc	10	8	10	13	1	2	2	2	1	1	1	4	2	2	2	3	2	3	3	3	2	4	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:33264024G>C	ENST00000497454.1	-	6	1044	c.549C>G	c.(547-549)gaC>gaG	p.D183E	RGL2_ENST00000444031.2_Missense_Mutation_p.D101E|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	183	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TCTCAAGCCGGTCAAGCTGAC	0.597																																																	0													100	108	105					6																	33264024		2203	4300	6503	SO:0001583	missense	0				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"RAB2, member RAS oncogene family-like"	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.549C>G	6.37:g.33264024G>C	ENSP00000420211:p.Asp183Glu		B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D183E	ENST00000497454.1	37	c.549	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	9.781	1.175224	0.21704	.	.	ENSG00000237441	ENST00000497454;ENST00000421215;ENST00000444031	T;T	0.46451	0.87;0.87	4.88	4.88	0.63580	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	3.571790	0.01027	N	0.004061	T	0.32255	0.0823	L	0.28556	0.865	0.38721	D	0.953454	P;D	0.54397	0.785;0.966	P;P	0.58928	0.492;0.848	T	0.53683	-0.8404	10	0.02654	T	1	.	13.4	0.60876	0.0:0.0:1.0:0.0	.	101;183	B4DG72;O15211	.;RGL2_HUMAN	E	183;47;101	ENSP00000420211:D183E;ENSP00000403070:D101E	ENSP00000400083:D47E	D	-	3	2	RGL2	33372002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.558000	0.53749	2.512000	0.84698	0.643000	0.83706	GAC	RGL2	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000237441		0.597	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	-	0	55	0	G			33264024	-1	tier1	-	no_errors	ENST00000497454	ensembl	human	known	74_37	missense	47.50	21	19	SNP	1.000	C	C	33264024	G	C	33264024	3	2	111	1	0	0	0	0	1	0	0	0	13322	1252	44	5	1836	5	RGL2	6	33264024	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1559956	33264024	137851043	67	30163											
KIAA0240	23506	genome.wustl.edu	37	chr6	42824919	42824920	+	Missense_Mutation	DNP	GC	GC	TT																															agtgatgcggtacagagactGctctcctaccacgtgtgcca																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:42824919_42824920GC>TT	ENST00000314073.5	+	10	2375_2376	c.2199_2200GC>TT	c.(2197-2202)ctGCtc>ctTTtc	p.L734F	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.L734F			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	734																	TACAGAGACTGCTCTCCTACCA	0.53																																																	0																																										SO:0001583	missense	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	Exception_encountered	6.37:g.42824919_42824920delinsTT	ENSP00000313933:p.Leu734Phe		A1L3W2|Q5TFZ3|Q92514	Silent|Missense_Mutation	SNP	NULL	p.L733|p.L734F	ENST00000314073.5	37	c.2199|c.2200	CCDS34451.1	6																																																																																			GLTSCR1L	-	NULL	ENSG00000112624		0.53	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1L	HGNC	protein_coding	OTTHUMT00000040562.3	-	0	28	0	G|C	NM_015349		42824919|42824920	1	tier1	-	no_errors	ENST00000314073	ensembl	human	known	74_37	silent|missense	39.53|40.48	26|25	17	SNP	1.000	T	TT	42824920	GC	TT	42824919	3	4	111	1	0	0	0	0	1	0	0	0	8191	1306	46	3	2229	3	KIAA0240	6	42824919	Missense_Mutation	DNP	GC	TCGA-LN-A4A1-01A-21D-A27G-09	9560895	42824919	128290148	68	30164											
SLC29A1	2030	genome.wustl.edu	37	chr6	44199101	44199101	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatttcttccatcccgcagGagaggagccaagagcaggca	12	6	12	11	1	1	3	0	0	1	3	3	5	3	4	3	3	2	3	3	3	1	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:44199101G>T	ENST00000393841.1	+	10	1258	c.767G>T	c.(766-768)gGa>gTa	p.G256V	SLC29A1_ENST00000427851.2_Splice_Site_p.G256V|SLC29A1_ENST00000371724.1_Splice_Site_p.G256V|SLC29A1_ENST00000371708.1_Splice_Site_p.G256V|SLC29A1_ENST00000313248.7_Splice_Site_p.G335V|SLC29A1_ENST00000393844.1_Splice_Site_p.G256V|SLC29A1_ENST00000371731.1_Splice_Site_p.G256V|SLC29A1_ENST00000371755.3_Splice_Site_p.G256V|SLC29A1_ENST00000371740.5_Splice_Site_p.G256V|SLC29A1_ENST00000371713.1_Splice_Site_p.G256V|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	256					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CATCCCGCAGGAGAGGAGCCA	0.473																																																	0													65	58	60					6																	44199101		2203	4299	6502	SO:0001630	splice_region_variant	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"Solute carriers"	11003	protein-coding gene	gene with protein product		602193	"solute carrier family 29 (nucleoside transporters), member 1"	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.767-1G>T	6.37:g.44199101G>T			B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.G335V	ENST00000393841.1	37	c.1004	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756923	0.89843	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.13	4.26	0.50523	.	0.903670	0.09540	N	0.788394	T	0.55800	0.1943	L	0.39326	1.205	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.59288	0.78;0.855	T	0.50931	-0.8769	9	.	.	.	.	9.9692	0.41743	0.0948:0.0:0.9052:0.0	.	335;256	B3KQV7;Q99808	.;S29A1_HUMAN	V	256;335;256;256;256;256;256;256;256;256	ENSP00000377427:G256V;ENSP00000319152:G335V;ENSP00000392668:G256V;ENSP00000360820:G256V;ENSP00000360805:G256V;ENSP00000360796:G256V;ENSP00000377424:G256V;ENSP00000360789:G256V;ENSP00000360778:G256V;ENSP00000360773:G256V	.	G	+	2	0	SLC29A1	44307079	1.000000	0.71417	0.992000	0.48379	0.794000	0.44872	4.333000	0.59285	1.306000	0.44926	0.655000	0.94253	GGA	SLC29A1	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt	ENSG00000112759		0.473	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	-	0	127	0	G		Missense_Mutation	44199101	1	tier1	-	no_errors	ENST00000313248	ensembl	human	known	74_37	missense	40.85	42	29	SNP	1.000	T	T	44199101	G	T	44199101	5	4	111	1	0	0	0	0	0	0	1	0	14579	1188	41	3	797	3	SLC29A1	6	44199101	Splice_Site	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1374182	44199101	126915966	69	30165											
FAM83B	222584	genome.wustl.edu	37	chr6	54735248	54735248	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aattatattttgaaaaatgtCcagaaagttgcacaaagcac	18	11	6	6	0	0	2	0	1	0	1	1	2	1	2	1	0	2	3	1	0	7	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:54735248C>G	ENST00000306858.7	+	2	320	c.204C>G	c.(202-204)gtC>gtG	p.V68V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	68										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGAAAAATGTCCAGAAAGTTG	0.408																																																	0													96	101	99					6																	54735248		2203	4300	6503	SO:0001819	synonymous_variant	0			AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 143"	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.204C>G	6.37:g.54735248C>G			Q2M1P3|Q96DQ2	Silent	SNP	pfam_DUF1669	p.V68	ENST00000306858.7	37	c.204	CCDS34479.1	6																																																																																			FAM83B	-	pfam_DUF1669	ENSG00000168143		0.408	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83B	HGNC	protein_coding	OTTHUMT00000040994.1	-	0	47	0	C	XM_294139		54735248	1	tier1	-	no_errors	ENST00000306858	ensembl	human	known	74_37	silent	52.00	12	13	SNP	0.915	G	G	54735248	C	G	54735248	2	3	111	1	0	0	0	0	0	0	0	1	5656	842	30	5		5	FAM83B	6	54735248	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	10536147	54735248	116379819	70	30166											
KCNQ5	56479	genome.wustl.edu	37	chr6	73904443	73904443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcagtgcccagacttTctacgcgcttagccctacta	8	12	8	13	2	2	2	1	1	1	1	2	2	2	2	2	0	4	2	2	0	4	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:73904443T>C	ENST00000370398.1	+	14	2214	c.2105T>C	c.(2104-2106)tTc>tCc	p.F702S	KCNQ5_ENST00000355194.4_Missense_Mutation_p.F702S|KCNQ5_ENST00000355635.3_Missense_Mutation_p.F703S|KCNQ5_ENST00000414165.2_Missense_Mutation_p.F592S|KCNQ5_ENST00000342056.2_Missense_Mutation_p.F721S|KCNQ5_ENST00000403813.2_Missense_Mutation_p.F693S|KCNQ5_ENST00000402622.2_Missense_Mutation_p.F712S	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	702					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCCCAGACTTTCTACGCGCTT	0.507																																					GBM(142;1375 1859 14391 23261 44706)												0													134	133	134					6																	73904443		2203	4300	6503	SO:0001583	missense	0			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2105T>C	6.37:g.73904443T>C	ENSP00000359425:p.Phe702Ser		A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.F712S	ENST00000370398.1	37	c.2135	CCDS4976.1	6	.	.	.	.	.	.	.	.	.	.	T	8.329	0.825970	0.16749	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99270	-5.46;-5.47;-5.47;-5.47;-5.47;-5.51;-5.66	5.32	5.32	0.75619	.	0.136123	0.51477	D	0.000089	D	0.96549	0.8874	L	0.44542	1.39	0.22366	N	0.999162	P;B;B;B;B	0.47604	0.898;0.012;0.002;0.003;0.147	P;B;B;B;B	0.46718	0.525;0.02;0.008;0.009;0.084	D	0.93282	0.6661	10	0.19590	T	0.45	.	9.0457	0.36345	0.2825:0.0:0.0:0.7175	.	592;712;721;693;702	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	S	721;721;702;702;712;703;693;592	ENSP00000345055:F721S;ENSP00000347326:F702S;ENSP00000359425:F702S;ENSP00000385501:F712S;ENSP00000347853:F703S;ENSP00000384453:F693S;ENSP00000409861:F592S	ENSP00000345055:F721S	F	+	2	0	KCNQ5	73961164	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.554000	0.45845	2.011000	0.59026	0.459000	0.35465	TTC	KCNQ5	-	NULL	ENSG00000185760		0.507	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNQ5	HGNC	protein_coding	OTTHUMT00000041198.3	-	0	32	0	T	NM_019842		73904443	1	tier1	-	no_errors	ENST00000402622	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	C	C	73904443	T	C	73904443	3	2	111	1	0	0	0	0	1	0	0	0	8113	1783	62	4	2220	4	KCNQ5	6	73904443	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	19169195	73904443	97210624	71	30167											
AIM1	202	genome.wustl.edu	37	chr6	106967551	106967551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactcagaggctgcagacaGcaaaagccttgtacttgaaa	14	7	11	9	0	1	3	1	1	0	2	1	4	1	4	1	2	4	4	1	2	4	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:106967551G>A	ENST00000369066.3	+	2	1731	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCTGCAGACAGCAAAAGCCTT	0.488																																																	0													90	90	90					6																	106967551		2203	4300	6503	SO:0001583	missense	0			U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"suppression of tumorigenicity 4", "beta-gamma crystallin domain containing 1"	601797	"suppression of tumorigenicity 4 (malignant melanoma)"	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1244G>A	6.37:g.106967551G>A	ENSP00000358062:p.Ser415Asn		Q6P2P0|Q9BTM3	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.S415N	ENST00000369066.3	37	c.1244	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229796	0.58777	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.76316	-1.01	5.93	3.19	0.36642	.	0.236387	0.30392	N	0.009722	T	0.54224	0.1845	M	0.61703	1.905	0.19300	N	0.999979	B	0.12630	0.006	B	0.08055	0.003	T	0.55673	-0.8104	10	0.72032	D	0.01	.	5.1866	0.15187	0.2328:0.0:0.6243:0.1428	.	415	Q9Y4K1	AIM1_HUMAN	N	823;415	ENSP00000358062:S415N	ENSP00000285105:S823N	S	+	2	0	AIM1	107074244	0.004000	0.15560	0.055000	0.19348	0.029000	0.11900	0.884000	0.28214	0.862000	0.35528	0.655000	0.94253	AGC	AIM1	-	NULL	ENSG00000112297		0.488	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	HGNC	protein_coding	OTTHUMT00000041669.1	-	0	31	0	G			106967551	1	tier1	-	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	18.18	18	4	SNP	0.003	A	A	106967551	G	A	106967551	3	1	111	1	0	0	0	0	1	0	0	0	430	971	34	3	1250	3	AIM1	6	106967551	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	33063108	106967551	64147516	72	30168											
ROS1	6098	genome.wustl.edu	37	chr6	117609724	117609724	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggccttcaggcttgccagaAgggcagtaagccacttgttt	9	10	12	10	0	1	1	1	0	0	1	1	1	1	1	3	3	2	4	3	3	2	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:117609724A>T	ENST00000368508.3	-	43	7173	c.6975T>A	c.(6973-6975)ccT>ccA	p.P2325P	ROS1_ENST00000368507.3_Silent_p.P2319P	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2325					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTTGCCAGAAGGGCAGTAAG	0.458			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"O, E"	0													109	106	107					6																	117609724		2203	4300	6503	SO:0001819	synonymous_variant	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"Fibronectin type III domain containing"	10261	protein-coding gene	gene with protein product		165020	"v-ros avian UR2 sarcoma virus oncogene homolog 1", "v-ros UR2 sarcoma virus oncogene homolog 1 (avian)", "c-ros oncogene 1 , receptor tyrosine kinase"			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6975T>A	6.37:g.117609724A>T			Q15368|Q5TDB5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P2325	ENST00000368508.3	37	c.6975	CCDS5116.1	6																																																																																			ROS1	-	NULL	ENSG00000047936		0.458	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	-	0	111	0	A			117609724	-1	tier1	-	no_errors	ENST00000368508	ensembl	human	known	74_37	silent	22.78	61	18	SNP	0.998	T	T	117609724	A	T	117609724	2	4	111	1	0	0	0	0	0	0	0	1	13576	59	3	5		5	ROS1	6	117609724	Silent	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	10642173	117609724	53505343	73	30169											
PEX7	5191	genome.wustl.edu	37	chr6	137191072	137191072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactgtagtttgagaggctgGgacttaaggaatgtacgaca	12	10	14	5	1	0	1	0	1	0	1	0	6	0	3	0	3	1	4	0	3	4	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:137191072G>T	ENST00000318471.4	+	7	759	c.678G>T	c.(676-678)tgG>tgT	p.W226C	PEX7_ENST00000541292.1_Missense_Mutation_p.W226C	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	226					endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGAGAGGCTGGGACTTAAGGA	0.383																																																	0													248	250	249					6																	137191072		2203	4300	6503	SO:0001583	missense	0			AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"WD repeat domain containing"	8860	protein-coding gene	gene with protein product	"Refsum disease"	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.678G>T	6.37:g.137191072G>T	ENSP00000315680:p.Trp226Cys		C0H5X6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W226C	ENST00000318471.4	37	c.678	CCDS5180.1	6	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281819	0.80692	.	.	ENSG00000112357	ENST00000541292;ENST00000318471	D;D	0.83506	-1.73;-1.73	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90625	0.7060	H	0.94385	3.53	0.80722	D	1	P	0.44578	0.838	P	0.50231	0.635	D	0.92439	0.5960	10	0.87932	D	0	-24.6788	18.9107	0.92483	0.0:0.0:1.0:0.0	.	226	O00628	PEX7_HUMAN	C	226	ENSP00000441004:W226C;ENSP00000315680:W226C	ENSP00000315680:W226C	W	+	3	0	PEX7	137232765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.095000	0.76952	2.751000	0.94390	0.591000	0.81541	TGG	PEX7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000112357		0.383	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX7	HGNC	protein_coding	OTTHUMT00000042387.2	-	0	87	0	G	NM_000288		137191072	1	tier1	-	no_errors	ENST00000318471	ensembl	human	known	74_37	missense	6.35	58	4	SNP	1.000	T	T	137191072	G	T	137191072	3	4	111	1	0	0	0	0	1	0	0	0	11790	1241	43	3	704	3	PEX7	6	137191072	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	19581348	137191072	33923995	74	30170											
NOX3	50508	genome.wustl.edu	37	chr6	155743924	155743924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccgatccccgcggcaacGcacacacacactgggtagtg	10	5	10	16	4	0	0	0	0	0	0	2	1	2	0	3	2	1	3	3	2	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:155743924G>A	ENST00000159060.2	-	10	1314	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGCGGCAACGCACACACACA	0.532																																																	0													131	129	130					6																	155743924		2203	4300	6503	SO:0001819	synonymous_variant	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1212C>T	6.37:g.155743924G>A			Q9HBJ9	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.C404	ENST00000159060.2	37	c.1212	CCDS5250.1	6																																																																																			NOX3	-	pfam_Fe_red_NAD-bd_6,prints_Cyt_b245_heavy_chain	ENSG00000074771		0.532	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	HGNC	protein_coding	OTTHUMT00000042819.1		0	60	0	G			155743924	-1			no_errors	ENST00000159060	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.999	A	A	155743924	G	A	155743924	2	1	111	1	0	0	0	0	0	0	0	1	10596	1079	38	1		1	NOX3	6	155743924	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	18552852	155743924	15371143	75	30171											
PLG	5340	genome.wustl.edu	37	chr6	161152209	161152209	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaacagaagcgagtgtTgtagcacctccgcctgttgt	9	10	12	10	2	1	1	1	0	0	1	2	3	2	2	3	1	3	4	3	1	3	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:161152209T>G	ENST00000308192.9	+	11	1446	c.1383T>G	c.(1381-1383)gtT>gtG	p.V461V		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	461					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAGCGAGTGTTGTAGCACCTC	0.517																																																	0													112	104	107					6																	161152209		2203	4300	6503	SO:0001819	synonymous_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1383T>G	6.37:g.161152209T>G			Q15146|Q5TEH4|Q6PA00	Silent	SNP	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1	p.V461	ENST00000308192.9	37	c.1383	CCDS5279.1	6																																																																																			PLG	-	pirsf_Pept_S1A_plasmin,superfamily_Kringle-like	ENSG00000122194		0.517	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	-	0	55	0	T	NM_000301		161152209	1	tier1	-	no_errors	ENST00000308192	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.000	G	G	161152209	T	G	161152209	2	3	111	1	0	0	0	0	0	0	0	1	12125	1799	63	4		4	PLG	6	161152209	Silent	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	5408285	161152209	9962858	76	30172											
C6orf70	55780	genome.wustl.edu	37	chr6	170154006	170154006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtctttctccctcagtgtAtgatataatttgtaatcttg	9	19	6	7	0	4	1	1	1	3	0	5	1	4	1	1	0	0	2	1	0	4	7			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr6:170154006A>G	ENST00000366773.3	+	2	86	c.53A>G	c.(52-54)tAt>tGt	p.Y18C	ERMARD_ENST00000588451.1_5'UTR|ERMARD_ENST00000392095.4_Intron|ERMARD_ENST00000418781.3_Missense_Mutation_p.Y18C|TCTE3_ENST00000366774.3_5'Flank|ERMARD_ENST00000366772.2_Missense_Mutation_p.Y18C	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	18					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CCCTCAGTGTATGATATAATT	0.323																																																	0													73	69	70					6																	170154006		2203	4299	6502	SO:0001583	missense	0			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"chromosome 6 open reading frame 70"	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.53A>G	6.37:g.170154006A>G	ENSP00000355735:p.Tyr18Cys		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.Y18C	ENST00000366773.3	37	c.53	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	A	16.02	3.004941	0.54254	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781	T	0.47528	0.84	5.66	4.5	0.54988	.	0.512932	0.17974	N	0.155765	T	0.46927	0.1418	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.63192	0.912;0.781	T	0.51212	-0.8734	10	0.87932	D	0	.	9.6652	0.39981	0.9178:0.0:0.0822:0.0	.	18;18	Q5T6L9-2;Q5T6L9	.;CF070_HUMAN	C	18	ENSP00000355735:Y18C	ENSP00000355734:Y18C	Y	+	2	0	C6orf70	169895931	1.000000	0.71417	0.570000	0.28473	0.784000	0.44337	4.025000	0.57225	0.978000	0.38470	0.528000	0.53228	TAT	ERMARD	-	NULL	ENSG00000130023		0.323	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMARD	HGNC	protein_coding	OTTHUMT00000043238.2	-	0	55	0	A	NM_018341		170154006	1	tier1	-	no_errors	ENST00000366773	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.924	G	G	170154006	A	G	170154006	3	3	111	1	0	0	0	0	1	0	0	0	2377	449	16	4	59	4	C6orf70	6	170154006	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	9001797	170154006	961061	77	30173											
GARS	2617	genome.wustl.edu	37	chr7	30661051	30661051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgatcgttcctgttatGacctctcctgtcatgcacga	6	14	9	12	2	2	2	1	2	1	0	5	3	3	2	3	0	2	4	3	0	1	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:30661051G>T	ENST00000389266.3	+	11	1643	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	468					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TTCCTGTTATGACCTCTCCTG	0.388																																																	0													233	227	229					7																	30661051		1895	4128	6023	SO:0001583	missense	0			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"Aminoacyl tRNA synthetases / Class II"	4162	protein-coding gene	gene with protein product	"glycine tRNA ligase"	600287	"Charcot-Marie-Tooth neuropathy 2D"	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1402G>T	7.37:g.30661051G>T	ENSP00000373918:p.Asp468Tyr		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly	p.D468Y	ENST00000389266.3	37	c.1402	CCDS43564.1	7	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754542	0.89843	.	.	ENSG00000106105	ENST00000389266	D	0.93247	-3.19	5.64	5.64	0.86602	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98991	1.0808	10	0.87932	D	0	-24.4244	17.5762	0.87950	0.0:0.0:1.0:0.0	.	468	P41250	SYG_HUMAN	Y	468	ENSP00000373918:D468Y	ENSP00000373918:D468Y	D	+	1	0	GARS	30627576	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.823000	0.99369	2.831000	0.97527	0.650000	0.86243	GAC	GARS	-	pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly	ENSG00000106105		0.388	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1	-	0	41	0	G	NM_002047		30661051	1	tier1	-	no_errors	ENST00000389266	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	T	T	30661051	G	T	30661051	3	4	111	1	0	0	0	0	1	0	0	0	6267	1290	45	3	1444	3	GARS	7	30661051	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		30661051	128477612	78	30174											
ADCYAP1R1	117	genome.wustl.edu	37	chr7	31121353	31121353	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgattttggtgacagtaaCtccttagatctctcaggtaa	10	15	8	8	0	3	3	1	2	2	1	5	3	4	3	1	2	1	2	1	2	3	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:31121353C>G	ENST00000304166.4	+	6	601	c.312C>G	c.(310-312)aaC>aaG	p.N104K	ADCYAP1R1_ENST00000409363.1_Intron|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.N104K|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.N104K	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	104					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGACAGTAACTCCTTAGATC	0.488																																					Ovarian(44;225 1186 2158 11092)												0													156	139	145					7																	31121353		2203	4300	6503	SO:0001583	missense	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	242	protein-coding gene	gene with protein product	"PACAP receptor 1"	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.312C>G	7.37:g.31121353C>G	ENSP00000306620:p.Asn104Lys		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.N104K	ENST00000304166.4	37	c.312	CCDS5433.1	7	.	.	.	.	.	.	.	.	.	.	C	8.525	0.869740	0.17322	.	.	ENSG00000078549	ENST00000304166;ENST00000396211;ENST00000409489	T;T;T	0.46451	1.2;0.87;0.88	4.7	-0.811	0.10857	GPCR, family 2, extracellular hormone receptor domain (3);	0.871539	0.10325	N	0.688268	T	0.27967	0.0689	L	0.46157	1.445	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.001;0.001;0.004;0.001	T	0.27739	-1.0065	10	0.33940	T	0.23	.	0.6827	0.00878	0.3257:0.3195:0.1594:0.1954	.	104;104;104;104	B7ZLA7;Q17S10;E9PFU5;P41586	.;.;.;PACR_HUMAN	K	104	ENSP00000306620:N104K;ENSP00000379514:N104K;ENSP00000386395:N104K	ENSP00000306620:N104K	N	+	3	2	ADCYAP1R1	31087878	0.681000	0.27614	0.221000	0.23827	0.998000	0.95712	0.094000	0.15107	0.009000	0.14813	0.655000	0.94253	AAC	ADCYAP1R1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt	ENSG00000078549		0.488	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	-	0	62	0	C	NM_001118		31121353	1	tier1	-	no_errors	ENST00000304166	ensembl	human	known	74_37	missense	29.41	72	30	SNP	0.040	G	G	31121353	C	G	31121353	3	3	111	1	0	0	0	0	1	0	0	0	303	564	20	5	330	5	ADCYAP1R1	7	31121353	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	460302	31121353	128017310	79	30175											
PCLO	27445	genome.wustl.edu	37	chr7	82580258	82580258	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaggagctcacgctccaAgtctagctgctgctgttgtt	6	13	10	12	1	2	0	1	0	1	0	4	1	4	1	2	1	4	7	2	1	2	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:82580258A>C	ENST00000333891.9	-	6	9983	c.9646T>G	c.(9646-9648)Ttg>Gtg	p.L3216V	PCLO_ENST00000423517.2_Missense_Mutation_p.L3216V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCACGCTCCAAGTCTAGCTGC	0.458																																																	0													52	50	51					7																	82580258		1862	4107	5969	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9646T>G	7.37:g.82580258A>C	ENSP00000334319:p.Leu3216Val			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.L3216V	ENST00000333891.9	37	c.9646	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	A	5.859	0.342584	0.11069	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.24350	1.86;1.87	5.33	2.99	0.34606	.	.	.	.	.	T	0.44664	0.1304	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.80764	0.952;0.994;0.994	T	0.36648	-0.9739	9	0.87932	D	0	.	8.7523	0.34622	0.8441:0.0:0.1559:0.0	.	3147;3216;3216	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	V	3147;3216;3216	ENSP00000334319:L3216V;ENSP00000388393:L3216V	ENSP00000334319:L3216V	L	-	1	2	PCLO	82418194	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.811000	0.38942	0.875000	0.35847	0.260000	0.18958	TTG	PCLO	-	NULL	ENSG00000186472		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0	35	0	A	NM_014510		82580258	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	C	C	82580258	A	C	82580258	3	2	111	1	0	0	0	0	1	0	0	0	11622	69	3	4	5879	4	PCLO	7	82580258	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	51458905	82580258	76558405	80	30176											
SEMA3D	223117	genome.wustl.edu	37	chr7	84670056	84670056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggggagtaaataaatatCttctattaaaggggaaaaat	17	12	10	2	0	2	0	0	0	2	0	2	2	2	2	0	4	0	1	0	4	10	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:84670056C>G	ENST00000284136.6	-	9	1022	c.979G>C	c.(979-981)Gat>Cat	p.D327H	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	327	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AAATAAATATCTTCTATTAAA	0.284																																					Ovarian(63;442 1191 17318 29975 31528)												0													41	45	44					7																	84670056		2202	4295	6497	SO:0001583	missense	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"Semaphorins", "Immunoglobulin superfamily / V-set domain containing"	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.979G>C	7.37:g.84670056C>G	ENSP00000284136:p.Asp327His		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.D327H	ENST00000284136.6	37	c.979	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441430	0.83993	.	.	ENSG00000153993	ENST00000284136	T	0.26957	1.7	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.082530	0.85682	D	0.000000	T	0.51736	0.1692	M	0.64676	1.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50516	-0.8819	10	0.87932	D	0	.	19.8046	0.96525	0.0:1.0:0.0:0.0	.	327	O95025	SEM3D_HUMAN	H	327	ENSP00000284136:D327H	ENSP00000284136:D327H	D	-	1	0	SEMA3D	84507992	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.583000	0.82559	2.754000	0.94517	0.650000	0.86243	GAT	SEMA3D	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000153993		0.284	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	-	0	48	0	C	NM_152754		84670056	-1	tier1	-	no_errors	ENST00000284136	ensembl	human	known	74_37	missense	21.62	29	8	SNP	1.000	G	G	84670056	C	G	84670056	3	3	111	1	0	0	0	0	1	0	0	0	14072	913	32	5	1390	5	SEMA3D	7	84670056	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	2089798	84670056	74468607	81	30177											
FAM133B	257415	genome.wustl.edu	37	chr7	92206427	92206427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataatttaccttactgtctGattcagtttctgacatggag	11	16	7	7	0	3	2	1	2	2	0	3	3	3	3	1	1	2	1	1	1	4	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:92206427G>A	ENST00000445716.1	-	7	557	c.455C>T	c.(454-456)tCa>tTa	p.S152L	FAM133B_ENST00000427372.1_Missense_Mutation_p.S142L|FAM133B_ENST00000438306.1_Missense_Mutation_p.S142L	NM_152789.2	NP_690002.2	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	152	Lys-rich.|Ser-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTACTGTCTGATTCAGTTTC	0.264																																																	0													8	7	7					7																	92206427		1632	3643	5275	SO:0001583	missense	0				CCDS47640.1, CCDS47641.1	7q21.2	2014-02-12	2007-04-26		ENSG00000234545	ENSG00000234545			28629	protein-coding gene	gene with protein product						12477932	Standard	NM_152789		Approved	MGC40405	uc003umc.3	Q5BKY9	OTTHUMG00000155863	ENST00000445716.1:c.455C>T	7.37:g.92206427G>A	ENSP00000398401:p.Ser152Leu		B2R994|Q05D67|Q6P5S6|Q8N0W8	Missense_Mutation	SNP	NULL	p.S152L	ENST00000445716.1	37	c.455	CCDS47640.1	7	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437511	0.62955	.	.	ENSG00000234545	ENST00000438306;ENST00000445716;ENST00000427372;ENST00000494079	T;T;T	0.51071	0.72;0.73;0.72	5.4	5.4	0.78164	.	.	.	.	.	T	0.64305	0.2586	L	0.50919	1.6	0.41553	D	0.988587	D	0.61080	0.989	D	0.72625	0.978	T	0.64859	-0.6308	9	0.59425	D	0.04	-3.3975	17.7271	0.88368	0.0:0.0:1.0:0.0	.	152	Q5BKY9	F133B_HUMAN	L	142;152;142;49	ENSP00000389783:S142L;ENSP00000398401:S152L;ENSP00000402843:S142L	ENSP00000402843:S142L	S	-	2	0	FAM133B	92044363	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.901000	0.63259	2.695000	0.91970	0.650000	0.86243	TCA	FAM133B	-	NULL	ENSG00000234545		0.264	FAM133B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133B	HGNC	protein_coding	OTTHUMT00000342181.2	-	0	24	0	G	NM_001040057		92206427	-1	tier1	-	no_errors	ENST00000445716	ensembl	human	known	74_37	missense	50.94	26	27	SNP	1.000	A	A	92206427	G	A	92206427	3	1	111	1	0	0	0	0	1	0	0	0	5463	1294	45	3	308	3	FAM133B	7	92206427	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	7536371	92206427	66932236	82	30178											
GAL3ST4	79690	genome.wustl.edu	37	chr7	99758410	99758410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagcgtagtggtccccaCgggccccaggcctgtagaag	7	6	15	13	3	0	1	0	0	0	1	1	2	1	1	5	3	2	2	5	3	3	2	rs146874152		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:99758410C>T	ENST00000360039.4	-	4	994	c.602G>A	c.(601-603)cGt>cAt	p.R201H	GAL3ST4_ENST00000411994.1_Missense_Mutation_p.V100M|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R139H|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.V100M|C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R201H	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	201				RGDH -> VGTT (in Ref. 2; AAL55759). {ECO:0000305}.	cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGGTCCCCACGGGCCCCAGG	0.562																																																	0								C	HIS/ARG	0,4406		0,0,2203	52	55	54		602	4	1	7	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	missense	GAL3ST4	NM_024637.4	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	201/487	99758410	2,13004	2203	4300	6503	SO:0001583	missense	0			AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"Sulfotransferases, membrane-bound"	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.602G>A	7.37:g.99758410C>T	ENSP00000353142:p.Arg201His		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.R201H	ENST00000360039.4	37	c.602	CCDS5688.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.60|17.60	3.429649|3.429649	0.62844|0.62844	0.0|0.0	2.33E-4|2.33E-4	ENSG00000197093|ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974|ENST00000423751;ENST00000411994	D;D;D|.	0.99727|.	-6.55;-6.55;-6.55|.	4.82|4.82	3.95|3.95	0.45737|0.45737	.|.	0.251277|.	0.30593|.	U|.	0.009287|.	T|T	0.58380|0.58380	0.2118|0.2118	L|L	0.41632|0.41632	1.29|1.29	0.44976|0.44976	D|D	0.997993|0.997993	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.93|.	T|T	0.61710|0.61710	-0.7007|-0.7007	10|6	0.33141|0.87932	T|D	0.24|0	-6.8805|-6.8805	11.1047|11.1047	0.48197|0.48197	0.0:0.9095:0.0:0.0905|0.0:0.9095:0.0:0.0905	.|.	139;201|.	B4DWL8;Q96RP7|.	.;G3ST4_HUMAN|.	H|M	201;201;139|100	ENSP00000400451:R201H;ENSP00000353142:R201H;ENSP00000398304:R139H|.	ENSP00000353142:R201H|ENSP00000414733:V100M	R|V	-|-	2|1	0|0	GAL3ST4|GAL3ST4	99596346|99596346	0.000000|0.000000	0.05858|0.05858	0.995000|0.995000	0.50966|0.50966	0.912000|0.912000	0.54170|0.54170	0.668000|0.668000	0.25127|0.25127	1.283000|1.283000	0.44513|0.44513	-0.283000|-0.283000	0.09986|0.09986	CGT|GTG	GAL3ST4	-	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	ENSG00000197093		0.562	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST4	HGNC	protein_coding	OTTHUMT00000337495.2		0	33	0	C	NM_024637		99758410	-1			no_errors	ENST00000360039	ensembl	human	known	74_37	missense	7.69	36	3	SNP	0.991	T	T	99758410	C	T	99758410	3	4	111	1	0	0	0	0	1	0	0	0	6225	536	19	1	862	1	GAL3ST4	7	99758410	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	7551983	99758410	59380253	83	30179											
ASB15	142685	genome.wustl.edu	37	chr7	123264623	123264623	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaacaatcattttcaagCtgtgaaaaagggctcctatg	13	14	7	7	0	2	1	2	1	0	0	3	1	3	1	1	1	2	2	1	1	6	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:123264623C>A	ENST00000451558.1	+	10	973	c.452C>A	c.(451-453)gCt>gAt	p.A151D	ASB15_ENST00000275699.3_Splice_Site_p.A151D|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000434204.1_Splice_Site_p.A151D|RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000451215.1_Splice_Site_p.A151D|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Splice_Site_p.A151D|RP11-390E23.3_ENST00000418409.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	151					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CATTTTCAAGCTGTGAAAAAG	0.358																																																	0													99	93	95					7																	123264623		2203	4300	6503	SO:0001630	splice_region_variant	0			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.452-1C>A	7.37:g.123264623C>A			Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.A151D	ENST00000451558.1	37	c.452	CCDS34742.1	7	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748166	0.69533	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.39;-1.49	5.74	5.74	0.90152	Ankyrin repeat-containing domain (4);	0.075160	0.56097	D	0.000037	D	0.94489	0.8226	H	0.98883	4.36	0.80722	D	1	D	0.69078	0.997	D	0.74348	0.983	D	0.96110	0.9076	9	.	.	.	.	19.8775	0.96884	0.0:1.0:0.0:0.0	.	151	Q8WXK1	ASB15_HUMAN	D	151	ENSP00000397655:A151D;ENSP00000390963:A151D;ENSP00000416433:A151D;ENSP00000438643:A151D;ENSP00000401166:A151D;ENSP00000275699:A151D	.	A	+	2	0	ASB15	123051859	1.000000	0.71417	0.999000	0.59377	0.269000	0.26545	7.198000	0.77823	2.873000	0.98535	0.561000	0.74099	GCT	ASB15	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000146809		0.358	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	-	0	36	0	C		Missense_Mutation	123264623	1	tier1	-	no_errors	ENST00000275699	ensembl	human	known	74_37	missense	85.71	3	18	SNP	1.000	A	A	123264623	C	A	123264623	5	1	111	1	0	0	0	0	0	0	1	0	1020	811	28	3	470	3	ASB15	7	123264623	Splice_Site	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	23506213	123264623	35874040	84	30180											
MGAM	8972	genome.wustl.edu	37	chr7	141799444	141799444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatgcaagaggagagtggaAgaccttgccagcccctcttg	11	8	12	10	0	1	3	0	0	1	3	1	5	1	4	4	2	3	1	4	2	3	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:141799444A>G	ENST00000549489.2	+	44	5188	c.5093A>G	c.(5092-5094)aAg>aGg	p.K1698R	MGAM_ENST00000475668.2_Missense_Mutation_p.K2594R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1698	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGAGTGGAAGACCTTGCCA	0.532																																																	0													89	88	89					7																	141799444		1925	4119	6044	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5093A>G	7.37:g.141799444A>G	ENSP00000447378:p.Lys1698Arg		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.K1698R	ENST00000549489.2	37	c.5093	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	A	14.52	2.561374	0.45590	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.91068	-2.78	5.84	0.375	0.16188	.	.	.	.	.	T	0.78960	0.4366	N	0.16567	0.415	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.63037	-0.6726	9	0.25106	T	0.35	.	4.0891	0.09962	0.4974:0.0:0.1398:0.3628	.	1698	O43451	MGA_HUMAN	R	1698;2595	ENSP00000447378:K1698R	ENSP00000373973:K1698R	K	+	2	0	MGAM	141445913	0.000000	0.05858	0.431000	0.26735	0.996000	0.88848	-0.556000	0.05992	0.107000	0.17824	0.533000	0.62120	AAG	MGAM	-	pfam_Glyco_hydro_31	ENSG00000257335		0.532	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	100	0	A			141799444	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	56.32	38	49	SNP	0.006	G	G	141799444	A	G	141799444	3	3	111	1	0	0	0	0	1	0	0	0	9579	72	3	4	5263	4	MGAM	7	141799444	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	18534821	141799444	17339219	85	30181											
CTAGE6P	340307	genome.wustl.edu	37	chr7	143453646	143453646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcaaaatatatgtttTctgattgcaaagattcttgt	12	18	5	6	0	3	2	1	1	2	1	3	2	3	2	0	0	1	2	0	0	5	8			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr7:143453646T>C	ENST00000470691.2	-	1	1143	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	369						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					ATATATGTTTTCTGATTGCAA	0.294																																																	0													32	26	27					7																	143453646		1859	4085	5944	SO:0001583	missense	0			BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"CTAGE family, member 6, pseudogene"	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1106A>G	7.37:g.143453646T>C	ENSP00000474388:p.Glu369Gly		A4FU29|Q3ZCM5	Missense_Mutation	SNP	superfamily_tRNA-bd_arm	p.E369G	ENST00000470691.2	37	c.1106		7																																																																																			CTAGE6	-	NULL	ENSG00000271321		0.294	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	CTAGE6	HGNC	protein_coding	OTTHUMT00000349580.2	-	0	378	0	T	NM_178561		143453646	-1	tier1	-	no_errors	ENST00000470691	ensembl	human	known	74_37	missense	6.36	206	14	SNP	0.022	C	C	143453646	T	C	143453646	3	2	111	1	0	0	0	0	1	0	0	0	4004	1783	62	4	1231	4	CTAGE6P	7	143453646	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	1654202	143453646	15685017	86	30182											
PCM1	5108	genome.wustl.edu	37	chr8	17817936	17817936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaattcaagcattgcaaacgGcatgccctgacttacaggta	14	9	8	10	1	1	1	1	1	0	0	1	1	1	1	1	2	5	4	1	2	5	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr8:17817936G>A	ENST00000519253.1	+	15	2556	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	PCM1_ENST00000524226.1_Missense_Mutation_p.A770T|PCM1_ENST00000325083.8_Missense_Mutation_p.A769T			Q15154	PCM1_HUMAN	pericentriolar material 1	769					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATTGCAAACGGCATGCCCTGA	0.343			T	"RET, JAK2"	"papillary thyroid, CML, MPD"																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"E, L"	0													60	60	60					8																	17817936		1835	4080	5915	SO:0001583	missense	0				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2305G>A	8.37:g.17817936G>A	ENSP00000431099:p.Ala769Thr		Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.A769T	ENST00000519253.1	37	c.2305		8	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843370	0.91197	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.29397	3.37;1.57;1.57	4.85	4.85	0.62838	.	0.047991	0.85682	D	0.000000	T	0.50854	0.1640	M	0.61703	1.905	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.996	P;P;P	0.60609	0.877;0.856;0.877	T	0.48768	-0.9006	10	0.46703	T	0.11	-15.8644	18.8588	0.92264	0.0:0.0:1.0:0.0	.	769;770;769	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	T	769;769;770	ENSP00000327077:A769T;ENSP00000431099:A769T;ENSP00000430521:A770T	ENSP00000327077:A769T	A	+	1	0	PCM1	17862216	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.773000	0.91762	2.608000	0.88229	0.650000	0.86243	GCA	PCM1	-	NULL	ENSG00000078674		0.343	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	-	0	40	0	G	NM_006197		17817936	1	tier1	-	no_errors	ENST00000325083	ensembl	human	known	74_37	missense	13.64	19	3	SNP	1.000	A	A	17817936	G	A	17817936	3	1	111	1	0	0	0	0	1	0	0	0	11623	1203	42	3	2355	3	PCM1	8	17817936	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		17817936	128546086	87	30183											
HR	55806	genome.wustl.edu	37	chr8	21977925	21977925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctggggaggtccgaggggGctcagcgcctgcacctggcc	4	5	19	13	2	1	0	1	0	0	0	2	2	2	1	4	7	2	3	4	7	0	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr8:21977925G>C	ENST00000381418.4	-	12	4186	c.2706C>G	c.(2704-2706)agC>agG	p.S902R	HR_ENST00000312841.8_Missense_Mutation_p.S902R	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	902					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTCCGAGGGGGCTCAGCGCCT	0.637																																																	0													67	73	71					8																	21977925		2203	4300	6503	SO:0001583	missense	0			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"hairless (mouse) homolog", "hairless homolog (mouse)"	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.2706C>G	8.37:g.21977925G>C	ENSP00000370826:p.Ser902Arg		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S902R	ENST00000381418.4	37	c.2706	CCDS6022.1	8	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495823	0.12762	.	.	ENSG00000168453	ENST00000381418;ENST00000312841;ENST00000517699	T;T;T	0.71698	-0.59;-0.59;-0.59	4.44	-3.32	0.04973	.	0.449341	0.21032	N	0.081322	T	0.59224	0.2178	L	0.40543	1.245	0.09310	N	1	P;P	0.46512	0.879;0.808	P;B	0.48270	0.572;0.368	T	0.56360	-0.7992	10	0.59425	D	0.04	-2.4706	4.4218	0.11484	0.2739:0.0:0.3126:0.4135	.	902;902	O43593-2;O43593	.;HAIR_HUMAN	R	902;902;125	ENSP00000370826:S902R;ENSP00000326765:S902R;ENSP00000430413:S125R	ENSP00000326765:S902R	S	-	3	2	HR	22033870	0.000000	0.05858	0.018000	0.16275	0.000000	0.00434	-1.584000	0.02114	-0.730000	0.04869	-1.951000	0.00486	AGC	HR	-	NULL	ENSG00000168453		0.637	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HR	HGNC	protein_coding	OTTHUMT00000214213.1	-	0	32	0	G			21977925	-1	tier1	-	no_errors	ENST00000381418	ensembl	human	known	74_37	missense	47.37	10	9	SNP	0.061	C	C	21977925	G	C	21977925	3	2	111	1	0	0	0	0	1	0	0	0	7374	1194	42	5	895	5	HR	8	21977925	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	4159989	21977925	124386097	88	30184											
RUNX1T1	862	genome.wustl.edu	37	chr8	93017523	93017523	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagcaggggcaagttGgcctgcaagggaatgacagg	10	5	17	9	1	0	1	0	1	0	0	0	2	0	2	1	5	3	6	1	5	3	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr8:93017523G>T	ENST00000523629.1	-	6	1015	c.561C>A	c.(559-561)gcC>gcA	p.A187A	RUNX1T1_ENST00000396218.1_Silent_p.A160A|RUNX1T1_ENST00000521553.1_Silent_p.A150A|RUNX1T1_ENST00000436581.2_Silent_p.A198A|RUNX1T1_ENST00000360348.2_Silent_p.A150A|RUNX1T1_ENST00000265814.3_Silent_p.A187A|RUNX1T1_ENST00000422361.2_Silent_p.A150A|RUNX1T1_ENST00000520724.1_Silent_p.A150A|RUNX1T1_ENST00000518844.1_Silent_p.A160A	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	187	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGGGCAAGTTGGCCTGCAAGG	0.532																																																	0													94	77	83					8																	93017523		2203	4300	6503	SO:0001819	synonymous_variant	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.561C>A	8.37:g.93017523G>T			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8	p.A198	ENST00000523629.1	37	c.594	CCDS6256.1	8																																																																																			RUNX1T1	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO	ENSG00000079102		0.532	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	-	0	26	0	G	NM_004349, NM_175635		93017523	-1	tier1	-	no_errors	ENST00000436581	ensembl	human	known	74_37	silent	25.00	24	8	SNP	1.000	T	T	93017523	G	T	93017523	2	4	111	1	0	0	0	0	0	0	0	1	13792	1335	47	3		3	RUNX1T1	8	93017523	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	71039598	93017523	53346499	89	30185											
PKHD1L1	93035	genome.wustl.edu	37	chr8	110466969	110466969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagattggaacagagacatcCccattccaacacaaggctgt	14	7	8	12	0	0	2	0	0	0	2	2	4	2	3	3	2	2	1	3	2	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr8:110466969C>T	ENST00000378402.5	+	45	6866	c.6762C>T	c.(6760-6762)tcC>tcT	p.S2254S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2254	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGACATCCCCATTCCAAC	0.448										HNSCC(38;0.096)																																							0													158	153	154					8																	110466969		2006	4172	6178	SO:0001819	synonymous_variant	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6762C>T	8.37:g.110466969C>T			Q567P2|Q9UF27	Silent	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.S2254	ENST00000378402.5	37	c.6762	CCDS47911.1	8																																																																																			PKHD1L1	-	pfam_G8_domain	ENSG00000205038		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0	69	0	C	NM_177531		110466969	1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	6.14	107	7	SNP	0.826	T	T	110466969	C	T	110466969	2	4	111	1	0	0	0	0	0	0	0	1	12011	610	22	3		3	PKHD1L1	8	110466969	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	17449446	110466969	35897053	90	30186											
CYP11B2	1585	genome.wustl.edu	37	chr8	143998573	143998573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctgtccacctgttgcagCttctccacatcctccggcag	6	10	9	16	1	1	0	0	0	1	0	5	0	4	0	5	2	2	5	5	2	0	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr8:143998573C>T	ENST00000323110.2	-	2	299	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	99					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CCTGTTGCAGCTTCTCCACAT	0.597									Familial Hyperaldosteronism type I																																								0													194	152	166					8																	143998573		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"Cytochrome P450s"	2592	protein-coding gene	gene with protein product	"steroid 11-beta-monooxygenase"	124080	"cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.297G>A	8.37:g.143998573C>T			B0ZBE4|Q16726	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.K99	ENST00000323110.2	37	c.297	CCDS6393.1	8																																																																																			CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000179142		0.597	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	-	0	26	0	C			143998573	-1	tier1	-	no_errors	ENST00000323110	ensembl	human	known	74_37	silent	9.62	47	5	SNP	0.105	T	T	143998573	C	T	143998573	2	4	111	1	0	0	0	0	0	0	0	1	4155	796	28	3		3	CYP11B2	8	143998573	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	33531604	143998573	2365449	91	30187											
ZNF696	79943	genome.wustl.edu	37	chr8	144378416	144378416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtgcggcaaggccttcGgccagagcttcaacctcctc	7	7	11	16	3	1	1	1	0	0	1	4	2	2	1	5	3	3	2	5	3	2	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr8:144378416G>T	ENST00000330143.3	+	3	980	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAAGGCCTTCGGCCAGAGCTT	0.716																																																	0													16	15	15					8																	144378416		2195	4292	6487	SO:0001583	missense	0			AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"Zinc fingers, C2H2-type"	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.571G>T	8.37:g.144378416G>T	ENSP00000328515:p.Gly191Cys		A0AVE2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G191C	ENST00000330143.3	37	c.571	CCDS6399.1	8	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210270	0.22289	.	.	ENSG00000185730	ENST00000518575;ENST00000330143	T;T	0.18960	2.18;2.18	2.08	-0.702	0.11265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13072	0.0317	L	0.37561	1.115	0.44162	D	0.996969	B	0.20052	0.041	B	0.19946	0.027	T	0.15838	-1.0423	8	.	.	.	.	5.7664	0.18229	0.4983:0.0:0.5017:0.0	.	191	Q9H7X3	ZN696_HUMAN	C	191	ENSP00000427857:G191C;ENSP00000328515:G191C	.	G	+	1	0	ZNF696	144449791	0.000000	0.05858	0.772000	0.31596	0.574000	0.36063	-0.419000	0.07071	-0.289000	0.09038	-0.361000	0.07541	GGC	ZNF696	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000185730		0.716	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF696	HGNC	protein_coding	OTTHUMT00000381164.2	-	0	41	0	G	NM_030895		144378416	1	tier1	-	no_errors	ENST00000330143	ensembl	human	known	74_37	missense	18.52	44	10	SNP	0.154	T	T	144378416	G	T	144378416	3	4	111	1	0	0	0	0	1	0	0	0	18147	1116	39	2	577	2	ZNF696	8	144378416	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	379843	144378416	1985606	92	30188											
KDM4C	23081	genome.wustl.edu	37	chr9	6986499	6986499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgagaaatcagacccatccGagctttcatggccaaagtca	13	7	8	13	2	3	2	3	0	0	2	4	4	4	2	4	1	1	1	4	1	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:6986499G>A	ENST00000381309.3	+	11	2075	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	KDM4C_ENST00000543771.1_Missense_Mutation_p.E504K|KDM4C_ENST00000535193.1_Missense_Mutation_p.E526K|KDM4C_ENST00000381306.3_Missense_Mutation_p.E504K|KDM4C_ENST00000442236.2_Missense_Mutation_p.E323K|KDM4C_ENST00000536108.1_Missense_Mutation_p.E323K|KDM4C_ENST00000428870.2_Missense_Mutation_p.E191K	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	504					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGACCCATCCGAGCTTTCATG	0.468																																																	0													131	118	123					9																	6986499		2203	4300	6503	SO:0001583	missense	0			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"Chromatin-modifying enzymes / K-demethylases", "Tudor domain containing"	17071	protein-coding gene	gene with protein product	"tudor domain containing 14C"	605469	"jumonji domain containing 2C"	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1510G>A	9.37:g.6986499G>A	ENSP00000370710:p.Glu504Lys		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E504K	ENST00000381309.3	37	c.1510	CCDS6471.1	9	.	.	.	.	.	.	.	.	.	.	G	1.733	-0.493765	0.04322	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.3	1.54	0.23209	.	1.082130	0.07056	N	0.832774	T	0.11196	0.0273	N	0.00583	-1.355	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.31971	-0.9924	10	0.02654	T	1	-6.2288	5.7379	0.18077	0.6537:0.1328:0.2134:0.0	.	323;504;526;504;504	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	K	526;504;504;504;323;323;191	ENSP00000442382:E526K;ENSP00000445427:E504K;ENSP00000370710:E504K;ENSP00000370707:E504K;ENSP00000409353:E323K;ENSP00000440656:E323K;ENSP00000405739:E191K	ENSP00000370707:E504K	E	+	1	0	KDM4C	6976499	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.431000	0.21444	0.452000	0.26830	-0.238000	0.12139	GAG	KDM4C	-	NULL	ENSG00000107077		0.468	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4C	HGNC	protein_coding	OTTHUMT00000051692.1	-	0	64	0	G	NM_015061		6986499	1	tier1	-	no_errors	ENST00000381309	ensembl	human	known	74_37	missense	64.52	11	20	SNP	0.000	A	A	6986499	G	A	6986499	3	1	111	1	0	0	0	0	1	0	0	0	8157	1059	37	1	1618	1	KDM4C	9	6986499	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		6986499	134226932	93	30189											
NPR2	4882	genome.wustl.edu	37	chr9	35807138	35807138	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcagagagcacccccAtgcaggtgagagccatgggt	10	6	14	11	0	1	2	1	1	0	2	1	4	1	2	3	2	4	3	3	2	0	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:35807138A>T	ENST00000342694.2	+	17	2893	c.2638A>T	c.(2638-2640)Atg>Ttg	p.M880L	SPAG8_ENST00000479751.1_5'Flank	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	880	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GAGCACCCCCATGCAGGTGAG	0.527																																																	0													61	57	58					9																	35807138		2203	4300	6503	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"guanylate cyclase B"	108961	"acromesomelic dysplasia, Maroteaux type", "atrionatriuretic peptide receptor B", "natriuretic peptide receptor B"	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.2638A>T	9.37:g.35807138A>T	ENSP00000341083:p.Met880Leu		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.M880L	ENST00000342694.2	37	c.2638	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	A	3.963	-0.009944	0.07727	.	.	ENSG00000159899	ENST00000342694;ENST00000447210	T;T	0.80304	-1.36;-1.36	6.17	6.17	0.99709	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.56097	D	0.000038	T	0.64170	0.2574	N	0.12502	0.225	0.50313	D	0.999864	B;B	0.13145	0.007;0.003	B;B	0.20184	0.028;0.02	T	0.61118	-0.7127	10	0.02654	T	1	.	15.6572	0.77150	1.0:0.0:0.0:0.0	.	880;880	P20594-2;P20594	.;ANPRB_HUMAN	L	880;139	ENSP00000341083:M880L;ENSP00000393029:M139L	ENSP00000341083:M880L	M	+	1	0	NPR2	35797138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.685000	0.61693	2.371000	0.80710	0.533000	0.62120	ATG	NPR2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000159899		0.527	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	-	0	21	0	A			35807138	1	tier1	-	no_errors	ENST00000342694	ensembl	human	known	74_37	missense	52.63	9	10	SNP	0.999	T	T	35807138	A	T	35807138	3	4	111	1	0	0	0	0	1	0	0	0	10634	217	8	5	2704	5	NPR2	9	35807138	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	28820639	35807138	105406293	94	30190											
ZCCHC7	84186	genome.wustl.edu	37	chr9	37357249	37357250	+	Frame_Shift_Ins	INS	-	-	A																															ttatttcttattaagcagagINSaaaaaaaaagtcttaagccg																								rs1051465		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:37357249_37357250insA	ENST00000336755.5	+	9	1722_1723	c.1616_1617insA	c.(1615-1620)agaaaafs	p.RK539fs	ZCCHC7_ENST00000534928.1_Frame_Shift_Ins_p.RK249fs|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	539			R -> K (in dbSNP:rs1051465).			cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		ATTAAGCAGAGAAAAAAAAAGT	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"Zinc fingers, CCHC domain containing"	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1625dupA	9.37:g.37357258_37357258dupA	ENSP00000337839:p.Arg539fs		B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Frame_Shift_Ins	INS	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.K543fs	ENST00000336755.5	37	c.1616_1617	CCDS6608.2	9																																																																																			ZCCHC7	-	NULL	ENSG00000147905		0.411	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC7	HGNC	protein_coding	OTTHUMT00000052453.2		0	14	0	0	NM_032226		37357250	1			no_errors	ENST00000336755	ensembl	human	known	74_37	frame_shift_ins	37.50	5	3	INS	1.000:1.000	A	A	37357250	-	A	37357249	7	5	111	1	0	1	1	0	0	0	0	0	17641	942	33	0	1646	0	ZCCHC7	9	37357249	Frame_Shift_Ins	INS	-	TCGA-LN-A4A1-01A-21D-A27G-09	1550111	37357249	103856182	95	30191											
C9orf64	84267	genome.wustl.edu	37	chr9	86570359	86570359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaggtgcattaacttctgCgcactattctcactttctcg	8	14	6	13	2	3	0	1	0	3	0	5	0	3	0	1	1	3	2	1	1	2	5			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:86570359C>T	ENST00000376344.3	-	2	750	c.534G>A	c.(532-534)gcG>gcA	p.A178A	C9orf64_ENST00000314700.1_Silent_p.A37A|C9orf64_ENST00000376340.2_Silent_p.A37A	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	178										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAACTTCTGCGCACTATTCT	0.433																																																	0													67	63	64					9																	86570359		2203	4300	6503	SO:0001819	synonymous_variant	0			AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.534G>A	9.37:g.86570359C>T			B2RPI6|Q8N2B1|Q9BT18	Silent	SNP	pfam_DUF2419	p.A178	ENST00000376344.3	37	c.534	CCDS6666.2	9																																																																																			C9orf64	-	pfam_DUF2419	ENSG00000165118		0.433	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf64	HGNC	protein_coding	OTTHUMT00000052865.1		0	41	0	C	NM_032307		86570359	-1			no_errors	ENST00000376344	ensembl	human	known	74_37	silent	11.76	15	2	SNP	0.223	T	T	86570359	C	T	86570359	2	4	111	1	0	0	0	0	0	0	0	1	2496	755	27	1		1	C9orf64	9	86570359	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	49213110	86570359	54643072	96	30192											
GPR107	57720	genome.wustl.edu	37	chr9	132816283	132816283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccgcgggcctccggctgctCccaatgctgggtttgctgca	3	9	14	15	3	0	0	0	0	0	0	2	0	2	0	4	3	4	6	4	3	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:132816283C>T	ENST00000372406.1	+	1	579	c.72C>T	c.(70-72)ctC>ctT	p.L24L	GPR107_ENST00000347136.6_Silent_p.L24L|GPR107_ENST00000372410.3_Silent_p.L24L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	24						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TCCGGCTGCTCCCAATGCTGG	0.706																																																	0													5	7	6					9																	132816283		2097	4118	6215	SO:0001819	synonymous_variant	0			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"GPCR / Unclassified : 7TM orphan receptors"	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.72C>T	9.37:g.132816283C>T			A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt	p.L24	ENST00000372406.1	37	c.72	CCDS48041.1	9																																																																																			GPR107	-	NULL	ENSG00000148358		0.706	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	-	0	15	0	C			132816283	1	tier1	-	no_errors	ENST00000372410	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.162	T	T	132816283	C	T	132816283	2	4	111	1	0	0	0	0	0	0	0	1	6649	842	30	3		3	GPR107	9	132816283	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	46245924	132816283	8397148	97	30193											
NOTCH1	4851	genome.wustl.edu	37	chr9	139407900	139407900	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtcatgtctttgcaggtgCcgccgttgacacaagggttg	6	12	14	9	2	2	1	1	1	1	0	2	1	2	1	2	3	2	3	2	3	1	3	rs374434131		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:139407900C>G	ENST00000277541.6	-	14	2372	c.2297G>C	c.(2296-2298)gGc>gCc	p.G766A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	766	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TTTGCAGGTGCCGCCGTTGAC	0.602			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0													90	104	99					9																	139407900		2180	4282	6462	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2297G>C	9.37:g.139407900C>G	ENSP00000277541:p.Gly766Ala		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.G766A	ENST00000277541.6	37	c.2297	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620526	0.66787	.	.	ENSG00000148400	ENST00000277541	D	0.96300	-3.97	4.76	4.76	0.60689	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	L	0.54863	1.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97255	0.9900	10	0.42905	T	0.14	.	16.7491	0.85480	0.0:1.0:0.0:0.0	.	766	P46531	NOTC1_HUMAN	A	766	ENSP00000277541:G766A	ENSP00000277541:G766A	G	-	2	0	NOTCH1	138527721	1.000000	0.71417	0.924000	0.36721	0.240000	0.25518	5.682000	0.68182	2.199000	0.70637	0.455000	0.32223	GGC	NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.602	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0	69	0	C	NM_017617		139407900	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	G	G	139407900	C	G	139407900	3	3	111	1	0	0	0	0	1	0	0	0	10586	739	26	5	5454	5	NOTCH1	9	139407900	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	6591617	139407900	1805531	98	30194											
NOTCH1	4851	genome.wustl.edu	37	chr9	139407924	139407925	+	Frame_Shift_Del	DEL	TC	TC	-																															cgttgacacaagggttggatTcacactcattgttgttgatg																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:139407924_139407925delTC	ENST00000277541.6	-	14	2347_2348	c.2272_2273delGA	c.(2272-2274)gaafs	p.E758fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	758	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGGTTGGATTCACACTCATTG	0.599			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0																																										SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2272_2273delGA	9.37:g.139407924_139407925delTC	ENSP00000277541:p.Glu758fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E758fs	ENST00000277541.6	37	c.2273_2272	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.599	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0	70	0	TC	NM_017617		139407925	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	45.24	23	19	DEL	1.000:1.000	-	-	139407925	TC	-	139407924	7	5	111	1	0	1	0	1	0	0	0	0	10586	1783	62	0	5478	0	NOTCH1	9	139407924	Frame_Shift_Del	DEL	TC	TCGA-LN-A4A1-01A-21D-A27G-09	24	139407924	1805507	99	30195											
CLIC3	9022	genome.wustl.edu	37	chr9	139890207	139890207	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgctctccccgtcctcactCgcctgggtgggtggagcggg	3	8	15	15	4	2	0	1	0	1	0	5	1	3	1	4	4	1	1	4	4	0	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr9:139890207C>G	ENST00000494426.1	-	2	295	c.36G>C	c.(34-36)gcG>gcC	p.A12A	CLIC3_ENST00000480181.1_5'Flank	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	12	GST N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGTCCTCACTCGCCTGGGTGG	0.697																																																	0													24	21	22					9																	139890207		2165	4264	6429	SO:0001819	synonymous_variant	0			AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"Ion channels / Chloride channels : Intracellular"	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.36G>C	9.37:g.139890207C>G			Q5SPZ7	Silent	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel	p.A12	ENST00000494426.1	37	c.36	CCDS7021.1	9																																																																																			CLIC3	-	superfamily_Thioredoxin-like_fold	ENSG00000169583		0.697	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC3	HGNC	protein_coding	OTTHUMT00000055173.2	-	0	28	0	C	NM_004669		139890207	-1	tier1	-	no_errors	ENST00000494426	ensembl	human	known	74_37	silent	72.73	9	24	SNP	0.914	G	G	139890207	C	G	139890207	2	3	111	1	0	0	0	0	0	0	0	1	3534	871	31	5		5	CLIC3	9	139890207	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	482283	139890207	1323224	100	30196											
C10orf18	54906	genome.wustl.edu	37	chr10	5791064	5791064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcatggagacgagcctcCctcccgggcactggactgct	7	6	13	15	2	0	1	0	0	0	1	2	4	2	2	3	4	2	3	3	4	0	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr10:5791064C>G	ENST00000328090.5	+	15	6305	c.5680C>G	c.(5680-5682)Cct>Gct	p.P1894A		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1894																	GACGAGCCTCCCTCCCGGGCA	0.557																																																	0													35	36	35					10																	5791064		1973	4154	6127	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.5680C>G	10.37:g.5791064C>G	ENSP00000328426:p.Pro1894Ala		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.P1894A	ENST00000328090.5	37	c.5680	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344257	0.24339	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.04603	3.59	5.56	1.56	0.23342	.	0.517985	0.18206	N	0.148359	T	0.03348	0.0097	L	0.27053	0.805	0.09310	N	1	B	0.22276	0.067	B	0.18263	0.021	T	0.44050	-0.9353	10	0.30078	T	0.28	.	6.0861	0.19968	0.0:0.6367:0.1346:0.2287	.	1894	Q5VWN6	F208B_HUMAN	A	1894;1089	ENSP00000328426:P1894A	ENSP00000328426:P1894A	P	+	1	0	C10orf18	5831070	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.819000	0.04462	0.025000	0.15241	0.563000	0.77884	CCT	FAM208B	-	NULL	ENSG00000108021		0.557	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	-	0	42	0	C	NM_017782		5791064	1	tier1	-	no_errors	ENST00000328090	ensembl	human	known	74_37	missense	43.14	29	22	SNP	0.000	G	G	5791064	C	G	5791064	3	3	111	1	0	0	0	0	1	0	0	0	1601	623	22	5	5726	5	C10orf18	10	5791064	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09		5791064	129743683	101	30197											
SEPHS1	22929	genome.wustl.edu	37	chr10	13364865	13364865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggtcccgtgcatgaGgccgaacatgtttccgcagg	7	7	15	12	4	0	1	0	1	0	0	2	2	2	1	3	4	2	4	3	4	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr10:13364865G>C	ENST00000327347.5	-	8	1309	c.934C>G	c.(934-936)Ctc>Gtc	p.L312V	SEPHS1_ENST00000378614.4_Intron|SEPHS1_ENST00000545675.1_Missense_Mutation_p.L312V|SEPHS1_ENST00000537130.1_Missense_Mutation_p.L245V	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	312					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CCGTGCATGAGGCCGAACATG	0.572																																																	0													52	44	47					10																	13364865		2203	4300	6503	SO:0001583	missense	0			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.934C>G	10.37:g.13364865G>C	ENSP00000367893:p.Leu312Val		B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.L312V	ENST00000327347.5	37	c.934	CCDS7098.1	10	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956642	0.92726	.	.	ENSG00000086475	ENST00000327347;ENST00000545675;ENST00000537130	T;T;T	0.61980	0.9;0.06;0.9	5.09	5.09	0.68999	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.997	T	0.81529	-0.0891	10	0.52906	T	0.07	-12.6984	18.8485	0.92217	0.0:0.0:1.0:0.0	.	264;312;312;312;245	B4DLS1;P49903;D6PSQ9;D3DRS9;B4DWK0	.;SPS1_HUMAN;.;.;.	V	312;312;245	ENSP00000367893:L312V;ENSP00000441119:L312V;ENSP00000442768:L245V	ENSP00000367893:L312V	L	-	1	0	SEPHS1	13404871	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.848000	0.99507	2.517000	0.84864	0.561000	0.74099	CTC	SEPHS1	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD	ENSG00000086475		0.572	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	HGNC	protein_coding	OTTHUMT00000046856.1	-	0	34	0	G	NM_012247		13364865	-1	tier1	-	no_errors	ENST00000327347	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	C	C	13364865	G	C	13364865	3	2	111	1	0	0	0	0	1	0	0	0	14099	1000	35	5	252	5	SEPHS1	10	13364865	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	7573801	13364865	122169882	102	30198											
ITGA8	8516	genome.wustl.edu	37	chr10	15573108	15573108	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggcatcttcttaacttCaaaggacaccagggatgcaa	15	9	8	9	0	3	0	1	0	2	0	3	2	3	2	1	3	2	2	1	3	4	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr10:15573108C>A	ENST00000378076.3	-	28	3276	c.2923G>T	c.(2923-2925)Gaa>Taa	p.E975*		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	975					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTCTTAACTTCAAAGGACACC	0.299																																																	0													101	102	101					10																	15573108		2203	4300	6503	SO:0001587	stop_gained	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2923G>T	10.37:g.15573108C>A	ENSP00000367316:p.Glu975*		B0YJ31|Q5VX94	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E975*	ENST00000378076.3	37	c.2923	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	C	43	10.420269	0.99402	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	.	.	.	5.64	3.81	0.43845	.	0.556592	0.22054	N	0.065263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	10.2895	0.43588	0.0:0.7815:0.0:0.2185	.	.	.	.	X	975;960	.	ENSP00000367316:E975X	E	-	1	0	ITGA8	15613114	0.999000	0.42202	0.999000	0.59377	0.940000	0.58332	0.790000	0.26900	0.748000	0.32831	0.643000	0.83706	GAA	ITGA8	-	NULL	ENSG00000077943		0.299	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0	34	0	C	NM_003638		15573108	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	nonsense	45.16	17	14	SNP	1.000	A	A	15573108	C	A	15573108	4	1	111	1	0	0	0	0	0	1	0	0	7909	835	29	3	280	3	ITGA8	10	15573108	Nonsense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	2208243	15573108	119961639	103	30199											
ARMC3	219681	genome.wustl.edu	37	chr10	23257303	23257303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagacatggatactatGgtgcagattcagcagacagg	13	9	12	7	0	1	4	1	1	0	3	1	5	1	5	0	3	3	2	0	3	3	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr10:23257303G>T	ENST00000298032.5	+	8	885	c.801G>T	c.(799-801)atG>atT	p.M267I	ARMC3_ENST00000409983.3_Missense_Mutation_p.M267I|ARMC3_ENST00000409049.3_Missense_Mutation_p.M267I|ARMC3_ENST00000376528.4_Missense_Mutation_p.M4I	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	267						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGATACTATGGTGCAGATTC	0.373																																																	0													75	75	75					10																	23257303		2203	4300	6503	SO:0001583	missense	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.801G>T	10.37:g.23257303G>T	ENSP00000298032:p.Met267Ile		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.M267I	ENST00000298032.5	37	c.801	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	G	2.412	-0.335201	0.05278	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.45668	0.89;0.89;1.53;2.39	5.77	1.66	0.24008	Armadillo-like helical (1);Armadillo-type fold (1);	0.479888	0.26503	N	0.024014	T	0.28797	0.0714	L	0.47716	1.5	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.16512	-1.0400	10	0.18710	T	0.47	-5.7929	5.7032	0.17893	0.1914:0.0:0.5673:0.2413	.	267;267	Q5W041-4;Q5W041	.;ARMC3_HUMAN	I	267;267;203;267;4	ENSP00000298032:M267I;ENSP00000386943:M267I;ENSP00000387288:M267I;ENSP00000365711:M4I	ENSP00000298032:M267I	M	+	3	0	ARMC3	23297309	0.997000	0.39634	0.004000	0.12327	0.003000	0.03518	2.252000	0.43196	0.408000	0.25621	-0.143000	0.13931	ATG	ARMC3	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000165309		0.373	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	-	0	22	0	G	NM_173081		23257303	1	tier1	-	no_errors	ENST00000298032	ensembl	human	known	74_37	missense	21.43	11	3	SNP	0.009	T	T	23257303	G	T	23257303	3	4	111	1	0	0	0	0	1	0	0	0	953	1348	47	3	827	3	ARMC3	10	23257303	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	7684195	23257303	112277444	104	30200											
ZNF485	220992	genome.wustl.edu	37	chr10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcccttttaaatcaccAtaaggttcatgcaggcaaac	13	12	5	11	0	3	0	3	0	0	0	4	0	4	0	2	2	2	3	2	2	4	5	rs372395438	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R|ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													A|||	2	0.000399361	0.0015	0	5008	,	,		21066	0		0	False		,,,				2504	0																0								A	ARG/HIS	0,4406		0,0,2203	106	103	104		530	-1.5	0.1	10		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF485	NM_145312.3	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	177/442	44112021	1,13005	2203	4300	6503	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.530A>G	10.37:g.44112021A>G	ENSP00000354694:p.His177Arg		B4DSE6|Q96CL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H177R	ENST00000361807.3	37	c.530	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	A	2.554	-0.303305	0.05495	0.0	1.16E-4	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.07114	3.22;3.22;3.22	2.52	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02649	0.0080	N	0.02142	-0.665	0.09310	N	0.999999	B	0.02656	0.0	B	0.15052	0.012	T	0.41556	-0.9502	9	0.46703	T	0.11	.	3.0456	0.06152	0.5725:0.0:0.2434:0.1841	.	177	Q8NCK3	ZN485_HUMAN	R	177;86;177	ENSP00000354694:H177R;ENSP00000363560:H86R;ENSP00000363558:H177R	ENSP00000354694:H177R	H	+	2	0	ZNF485	43432027	0.000000	0.05858	0.134000	0.22075	0.075000	0.17131	-0.565000	0.05929	-0.363000	0.08101	-0.609000	0.04063	CAT	ZNF485	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198298		0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	HGNC	protein_coding	OTTHUMT00000047719.2	-	0	41	0	A	NM_145312		44112021	1	tier1	-	no_errors	ENST00000361807	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.457	G	G	44112021	A	G	44112021	3	3	111	1	0	0	0	0	1	0	0	0	17986	217	8	4	544	4	ZNF485	10	44112021	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	20854718	44112021	91422726	105	30201											
LIPJ	142910	genome.wustl.edu	37	chr10	90351161	90351161	+	Frame_Shift_Del	DEL	C	C	-																															attatttcctactggggctaCcctgatgaagaatatgatat																								rs192611215	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr10:90351161delC	ENST00000371939.3	+	4	350	c.36delC	c.(34-36)tacfs	p.Y12fs		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	12					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		ACTGGGGCTACCCTGATGAAG	0.323																																																	0													67	69	68					10																	90351161		2203	4299	6502	SO:0001589	frameshift_variant	0			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"lipase-like, ab-hydrolase domain containing 1", "lipase, family member J"	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.36delC	10.37:g.90351161delC	ENSP00000361007:p.Tyr12fs		A8MT98|Q0P671	Frame_Shift_Del	DEL	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.P13fs	ENST00000371939.3	37	c.36	CCDS31240.1	10																																																																																			LIPJ	-	pfam_AB_hydrolase_lipase	ENSG00000204022		0.323	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2		0	57	0	C	XM_084377		90351161	1	tier1		no_errors	ENST00000371939	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.996	-	-	90351161	C	-	90351161	7	5	111	1	0	1	0	1	0	0	0	0	8856	518	18	0	42	0	LIPJ	10	90351161	Frame_Shift_Del	DEL	C	TCGA-LN-A4A1-01A-21D-A27G-09	46239140	90351161	45183586	106	30202											
INPP5A	3632	genome.wustl.edu	37	chr10	134579331	134579331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacagactgtatgaactgGacatctcgttccctcccagg	10	9	10	12	1	1	2	0	1	1	1	4	4	3	4	2	3	1	2	2	3	2	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr10:134579331G>T	ENST00000368594.3	+	12	1235	c.958G>T	c.(958-960)Gac>Tac	p.D320Y	INPP5A_ENST00000368593.3_Missense_Mutation_p.D320Y	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	320					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)	p.D320H(2)		cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		GTATGAACTGGACATCTCGTT	0.493																																					Pancreas(63;823 1267 11107 20380 51626)												2	Substitution - Missense(2)	lung(2)											173	166	169					10																	134579331		2203	4300	6503	SO:0001583	missense	0			X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"CTCL tumor antigen HD-CL-02", "43 kDa inositol polyphosphate 5-phophatase", "inositol polyphosphate 5-phophatase, 40kDa", "InsP3 5-phosphatase", "type I inositol-1,4,5-trisphosphate 5-phosphatase"	600106	"inositol polyphosphate-5-phosphatase, 40kD"			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.958G>T	10.37:g.134579331G>T	ENSP00000357583:p.Asp320Tyr		D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.D320Y	ENST00000368594.3	37	c.958	CCDS7669.2	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.61|17.61	3.432368|3.432368	0.62844|0.62844	.|.	.|.	ENSG00000068383|ENSG00000068383	ENST00000368594;ENST00000368593;ENST00000416326;ENST00000432898;ENST00000445580|ENST00000342652	T;T|.	0.39592|.	1.07;1.07|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);|.	0.049986|.	0.85682|.	D|.	0.000000|.	T|T	0.69958|0.69958	0.3169|0.3169	L|L	0.59436|0.59436	1.845|1.845	0.49582|0.49582	D|D	0.999802|0.999802	D;D;D|.	0.61080|.	0.964;0.989;0.971|.	P;P;P|.	0.61070|.	0.844;0.883;0.837|.	T|T	0.69953|0.69953	-0.5005|-0.5005	10|5	0.72032|.	D|.	0.01|.	-22.3019|-22.3019	15.8293|15.8293	0.78739|0.78739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	263;320;320|.	F5GWM1;Q14642;Q5T1B5|.	.;I5P1_HUMAN;.|.	Y|V	320;320;263;237;2|234	ENSP00000357583:D320Y;ENSP00000357582:D320Y|.	ENSP00000357582:D320Y|.	D|G	+|+	1|2	0|0	INPP5A|INPP5A	134429321|134429321	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.038000|7.038000	0.76537|0.76537	2.080000|2.080000	0.62538|0.62538	0.650000|0.650000	0.86243|0.86243	GAC|GGA	INPP5A	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000068383		0.493	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5A	HGNC	protein_coding	OTTHUMT00000051085.1	-	0	74	0	G	NM_005539		134579331	1	tier1	-	no_errors	ENST00000368594	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T	T	134579331	G	T	134579331	3	4	111	1	0	0	0	0	1	0	0	0	7781	1174	41	3	1004	3	INPP5A	10	134579331	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	44228170	134579331	955416	107	30203											
NR1H3	10062	genome.wustl.edu	37	chr11	47282123	47282123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcaagggagcgcactaCatctgccacagtggcggcca	10	6	12	13	2	3	0	2	0	1	0	3	1	3	1	2	3	3	1	2	3	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:47282123C>T	ENST00000467728.1	+	3	1634	c.396C>T	c.(394-396)taC>taT	p.Y132Y	NR1H3_ENST00000405853.3_Silent_p.Y132Y|NR1H3_ENST00000441012.2_Silent_p.Y132Y|NR1H3_ENST00000395397.3_Silent_p.Y87Y|NR1H3_ENST00000405576.1_Silent_p.Y87Y|NR1H3_ENST00000481889.2_Silent_p.Y87Y|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Silent_p.Y132Y|NR1H3_ENST00000527949.1_Silent_p.Y41Y			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	132					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GAGCGCACTACATCTGCCACA	0.627																																																	0													52	43	46					11																	47282123		2201	4298	6499	SO:0001819	synonymous_variant	0			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"Nuclear hormone receptors"	7966	protein-coding gene	gene with protein product	"liver X receptor-alpha"	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.396C>T	11.37:g.47282123C>T			A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt	p.Y132	ENST00000467728.1	37	c.396	CCDS7929.1	11																																																																																			NR1H3	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000025434		0.627	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	-	0	36	0	C			47282123	1	tier1	-	no_errors	ENST00000441012	ensembl	human	known	74_37	silent	25.00	26	9	SNP	0.221	T	T	47282123	C	T	47282123	2	4	111	1	0	0	0	0	0	0	0	1	10657	489	17	3		3	NR1H3	11	47282123	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09		47282123	87724393	108	30204											
CELF1	10658	genome.wustl.edu	37	chr11	47496971	47496971	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggagcgcagcagcagcaTattgctggatacccgagtag	10	7	15	9	2	0	0	0	0	0	0	0	3	0	2	1	3	6	6	1	3	3	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:47496971T>C	ENST00000358597.3	-	10	1105	c.1106A>G	c.(1105-1107)tAt>tGt	p.Y369C	CELF1_ENST00000310513.5_Missense_Mutation_p.Y365C|CELF1_ENST00000361904.3_Missense_Mutation_p.Y366C|CELF1_ENST00000532048.1_Missense_Mutation_p.Y395C|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000395290.2_Missense_Mutation_p.Y368C|CELF1_ENST00000395292.2_Missense_Mutation_p.Y366C|CELF1_ENST00000531165.1_Missense_Mutation_p.Y397C			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	369					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGCAGCAGCATATTGCTGGAT	0.562																																					Pancreas(163;1949 1966 9906 43218 43785)												0													89	83	85					11																	47496971		2201	4298	6499	SO:0001583	missense	0			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"RNA binding motif (RRM) containing"	2549	protein-coding gene	gene with protein product	"CUG RNA-binding protein", "nuclear polyadenylated RNA-binding protein, 50-kD", "bruno-like 2", "embryo deadenylation element binding protein"	601074	"CUG triplet repeat, RNA-binding protein 1", "CUG triplet repeat, RNA binding protein 1"	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1106A>G	11.37:g.47496971T>C	ENSP00000351409:p.Tyr369Cys		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y395C	ENST00000358597.3	37	c.1184	CCDS31482.1	11	.	.	.	.	.	.	.	.	.	.	T	24.8	4.565805	0.86439	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.4	5.4	0.78164	.	0.122741	0.56097	D	0.000027	D	0.82783	0.5112	M	0.82823	2.61	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.79784	0.993;0.993;0.987;0.987;0.993;0.971	D	0.85631	0.1270	10	0.72032	D	0.01	-7.9254	15.4282	0.75072	0.0:0.0:0.0:1.0	.	368;397;395;365;366;369	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	C	368;369;366;365;366;397;395	ENSP00000378705:Y368C;ENSP00000351409:Y369C;ENSP00000378706:Y366C;ENSP00000308386:Y365C;ENSP00000354639:Y366C;ENSP00000436864:Y397C;ENSP00000435926:Y395C	ENSP00000308386:Y365C	Y	-	2	0	CELF1	47453547	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	8.040000	0.89188	2.051000	0.60960	0.455000	0.32223	TAT	CELF1	-	NULL	ENSG00000149187		0.562	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF1	HGNC	protein_coding	OTTHUMT00000398352.1	-	0	38	0	T	NM_006560		47496971	-1	tier1	-	no_errors	ENST00000532048	ensembl	human	known	74_37	missense	42.86	20	15	SNP	1.000	C	C	47496971	T	C	47496971	3	2	111	1	0	0	0	0	1	0	0	0	3222	1406	49	4	366	4	CELF1	11	47496971	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	214848	47496971	87509545	109	30205											
ROM1	6094	genome.wustl.edu	37	chr11	62381901	62381901	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggcccaagggtgccaTgaggtgctgctggagcactt	6	9	15	11	0	1	1	0	1	1	0	1	2	1	2	2	4	4	3	2	4	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:62381901T>A	ENST00000278833.3	+	2	1303	c.762T>A	c.(760-762)caT>caA	p.H254Q	EML3_ENST00000494176.2_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000394773.2_5'Flank|ROM1_ENST00000534093.1_Missense_Mutation_p.M45K|EML3_ENST00000529309.1_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	254					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						AAGGGTGCCATGAGGTGCTGC	0.597																																																	0													83	77	79					11																	62381901		2202	4299	6501	SO:0001583	missense	0			L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"Tetraspanins"	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.762T>A	11.37:g.62381901T>A	ENSP00000278833:p.His254Gln		B2R978	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.H254Q	ENST00000278833.3	37	c.762	CCDS8024.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.98|16.98	3.271200|3.271200	0.59649|0.59649	.|.	.|.	ENSG00000149489|ENSG00000149489	ENST00000278833|ENST00000525801;ENST00000534093;ENST00000525947	T|.	0.78924|.	-1.22|.	5.38|5.38	-10.5|-10.5	0.00291|0.00291	Tetraspanin, EC2 domain (1);|.	0.148660|.	0.39146|.	N|.	0.001443|.	T|T	0.47838|0.47838	0.1467|0.1467	L|L	0.54323|0.54323	1.7|1.7	0.18873|0.18873	N|N	0.999986|0.999986	D|.	0.57257|.	0.979|.	P|.	0.57204|.	0.815|.	T|T	0.63743|0.63743	-0.6568|-0.6568	10|6	0.29301|0.87932	T|D	0.29|0	-22.1371|-22.1371	14.7386|14.7386	0.69437|0.69437	0.0:0.1659:0.0872:0.7469|0.0:0.1659:0.0872:0.7469	.|.	254|.	Q03395|.	ROM1_HUMAN|.	Q|K	254|45	ENSP00000278833:H254Q|.	ENSP00000278833:H254Q|ENSP00000433566:M45K	H|M	+|+	3|2	2|0	ROM1|ROM1	62138477|62138477	0.000000|0.000000	0.05858|0.05858	0.240000|0.240000	0.24138|0.24138	0.977000|0.977000	0.68977|0.68977	-3.641000|-3.641000	0.00406|0.00406	-2.131000|-2.131000	0.00815|0.00815	-0.464000|-0.464000	0.05259|0.05259	CAT|ATG	ROM1	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000149489		0.597	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	HGNC	protein_coding	OTTHUMT00000394929.1	-	0	24	0	T	NM_000327		62381901	1	tier1	-	no_errors	ENST00000278833	ensembl	human	known	74_37	missense	57.89	8	11	SNP	0.003	A	A	62381901	T	A	62381901	3	1	111	1	0	0	0	0	1	0	0	0	13566	1461	51	5	768	5	ROM1	11	62381901	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	14884930	62381901	72624615	110	30206											
EHD1	10938	genome.wustl.edu	37	chr11	64627509	64627509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctcaaagagcttgcGgttgtcggggatgaggagcg	7	8	17	9	4	1	2	1	1	0	1	3	4	1	4	1	5	3	2	1	5	1	2	rs145274478		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:64627509G>A	ENST00000320631.3	-	3	1056	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	EHD1_ENST00000359393.2_Missense_Mutation_p.R268C	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	268	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGAGCTTGCGGTTGTCGGGG	0.617																																																	0								G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	61	62	62		802	5.1	1	11	dbSNP_134	62	0,8594		0,0,4297	no	missense	EHD1	NM_006795.2	180	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	268/535	64627509	1,12995	2201	4297	6498	SO:0001583	missense	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.802C>T	11.37:g.64627509G>A	ENSP00000320516:p.Arg268Cys		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.R268C	ENST00000320631.3	37	c.802	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474404	0.63737	2.27E-4	0.0	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	D;D;D;D;D	0.95554	-3.74;-3.74;-3.74;-3.74;-3.74	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.97592	0.9211	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.62184	0.899;0.899	D	0.98186	1.0460	10	0.87932	D	0	.	15.9821	0.80116	0.0:0.0:1.0:0.0	.	268;268	B2R5U3;Q9H4M9	.;EHD1_HUMAN	C	268;268;244;282;132;282;132	ENSP00000320516:R268C;ENSP00000352354:R268C;ENSP00000391429:R132C;ENSP00000404944:R282C;ENSP00000396273:R132C	ENSP00000320516:R268C	R	-	1	0	EHD1	64384085	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.069000	0.41481	2.639000	0.89480	0.561000	0.74099	CGC	EHD1	-	superfamily_P-loop_NTPase	ENSG00000110047		0.617	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	-	0	67	0	G	NM_006795		64627509	-1	tier1	rs145274478	no_errors	ENST00000320631	ensembl	human	known	74_37	missense	34.38	42	22	SNP	1.000	A	A	64627509	G	A	64627509	3	1	111	1	0	0	0	0	1	0	0	0	4991	1116	39	1	814	1	EHD1	11	64627509	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	2245608	64627509	70379007	111	30207											
EHD1	10938	genome.wustl.edu	37	chr11	64627713	64627713	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccttgatcacttccgagaActcatcggagatgtccagct	10	10	9	12	2	2	3	2	1	0	2	5	5	4	3	3	1	3	1	3	1	1	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:64627713A>G	ENST00000320631.3	-	3	852	c.598T>C	c.(598-600)Ttc>Ctc	p.F200L	EHD1_ENST00000359393.2_Missense_Mutation_p.F200L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	200	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						ACTTCCGAGAACTCATCGGAG	0.577																																																	0													79	71	74					11																	64627713		2201	4297	6498	SO:0001583	missense	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.598T>C	11.37:g.64627713A>G	ENSP00000320516:p.Phe200Leu		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology	p.F200L	ENST00000320631.3	37	c.598	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463152	0.84425	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000421510;ENST00000433803;ENST00000455148	D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53	5.07	5.07	0.68467	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	L	0.49256	1.55	0.58432	D	0.999999	B;B	0.24721	0.11;0.11	B;B	0.31016	0.123;0.123	D	0.90568	0.4520	10	0.52906	T	0.07	-46.5375	12.823	0.57704	1.0:0.0:0.0:0.0	.	200;200	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	200;200;176;214;64;214;64	ENSP00000320516:F200L;ENSP00000352354:F200L;ENSP00000391429:F64L;ENSP00000404944:F214L;ENSP00000396273:F64L	ENSP00000320516:F200L	F	-	1	0	EHD1	64384289	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.254000	0.78329	2.132000	0.65825	0.459000	0.35465	TTC	EHD1	-	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	ENSG00000110047		0.577	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	-	0	35	0	A	NM_006795		64627713	-1	tier1	-	no_errors	ENST00000320631	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	G	G	64627713	A	G	64627713	3	3	111	1	0	0	0	0	1	0	0	0	4991	43	2	4	1018	4	EHD1	11	64627713	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	204	64627713	70378803	112	30208											
SCYL1	57410	genome.wustl.edu	37	chr11	65293808	65293808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgacagcagtggcagagtgGtcagagagaagtggtgggtg	10	7	19	5	0	1	4	1	1	0	3	1	5	1	4	0	4	1	2	0	4	1	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:65293808G>T	ENST00000270176.5	+	4	666	c.589G>T	c.(589-591)Gtc>Ttc	p.V197F	SCYL1_ENST00000279270.6_Missense_Mutation_p.V197F|SCYL1_ENST00000527009.1_Missense_Mutation_p.V54F|SCYL1_ENST00000524944.1_Missense_Mutation_p.V197F|SCYL1_ENST00000533862.1_Missense_Mutation_p.V197F|SCYL1_ENST00000420247.2_Missense_Mutation_p.V197F|SCYL1_ENST00000525364.1_Missense_Mutation_p.V197F	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						TGGCAGAGTGGTCAGAGAGAA	0.662																																																	0													19	22	21					11																	65293808		2103	4227	6330	SO:0001583	missense	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"teratoma-associated tyrosine kinase", "telomerase transcriptional elements-interacting factor", "telomerase regulation-associated protein"	607982	"N-terminal kinase-like"	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.589G>T	11.37:g.65293808G>T	ENSP00000270176:p.Val197Phe		A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.V197F	ENST00000270176.5	37	c.589	CCDS41672.1	11	.	.	.	.	.	.	.	.	.	.	G	0.759	-0.769812	0.02974	.	.	ENSG00000142186	ENST00000270176;ENST00000525364;ENST00000420247;ENST00000533862;ENST00000527630;ENST00000349495;ENST00000279270;ENST00000524944;ENST00000417543;ENST00000527009	T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;2.21	4.82	3.88	0.44766	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.002470	0.08037	N	0.994527	T	0.49881	0.1583	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.13594	0.003;0.008;0.0;0.006	B;B;B;B	0.15870	0.013;0.014;0.003;0.013	T	0.38222	-0.9671	10	0.09338	T	0.73	-15.3039	8.0372	0.30499	0.0:0.1756:0.6431:0.1814	.	197;197;197;197	E9PS17;Q96KG9-6;Q96KG9-2;Q96KG9	.;.;.;NTKL_HUMAN	F	197;197;197;197;197;197;197;197;197;54	ENSP00000270176:V197F;ENSP00000431635:V197F;ENSP00000408192:V197F;ENSP00000437254:V197F;ENSP00000433450:V197F;ENSP00000279270:V197F;ENSP00000432175:V197F;ENSP00000436993:V54F	ENSP00000270176:V197F	V	+	1	0	SCYL1	65050384	0.000000	0.05858	0.009000	0.14445	0.710000	0.40934	0.335000	0.19806	0.976000	0.38417	0.561000	0.74099	GTC	SCYL1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000142186		0.662	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	-	0	33	0	G	NM_020680		65293808	1	tier1	-	no_errors	ENST00000270176	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.002	T	T	65293808	G	T	65293808	3	4	111	1	0	0	0	0	1	0	0	0	13992	1261	44	3	603	3	SCYL1	11	65293808	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	666095	65293808	69712708	113	30209											
INTS4	92105	genome.wustl.edu	37	chr11	77690104	77690104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctggtagcttagtgccaaTtgcaagcaaagtatccagca	12	10	9	10	0	1	0	0	0	1	0	2	0	2	0	2	1	5	6	2	1	6	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:77690104T>C	ENST00000534064.1	-	4	443	c.409A>G	c.(409-411)Att>Gtt	p.I137V	INTS4_ENST00000529807.1_Missense_Mutation_p.I137V	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	137					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTAGTGCCAATTGCAAGCAAA	0.403																																																	0													170	152	158					11																	77690104		2200	4292	6492	SO:0001583	missense	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.409A>G	11.37:g.77690104T>C	ENSP00000434466:p.Ile137Val		Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.I137V	ENST00000534064.1	37	c.409	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	T	17.82	3.483052	0.63962	.	.	ENSG00000149262	ENST00000534064;ENST00000529807	T;T	0.68181	-0.31;1.35	4.99	4.99	0.66335	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	L	0.54323	1.7	0.80722	D	1	P	0.38078	0.617	B	0.34418	0.182	T	0.64685	-0.6349	10	0.45353	T	0.12	-16.4411	14.8576	0.70351	0.0:0.0:0.0:1.0	.	137	Q96HW7	INT4_HUMAN	V	137	ENSP00000434466:I137V;ENSP00000433644:I137V	ENSP00000433644:I137V	I	-	1	0	INTS4	77367752	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.736000	0.74811	2.103000	0.63969	0.533000	0.62120	ATT	INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.403	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	-	0	61	0	T	NM_033547		77690104	-1	tier1	-	no_errors	ENST00000534064	ensembl	human	known	74_37	missense	45.24	23	19	SNP	1.000	C	C	77690104	T	C	77690104	3	2	111	1	0	0	0	0	1	0	0	0	7807	1493	52	4	2562	4	INTS4	11	77690104	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	12396296	77690104	57316412	114	30210											
MAML2	84441	genome.wustl.edu	37	chr11	95724824	95724825	+	Frame_Shift_Ins	INS	-	-	A																															taaccacttccagtgtttggINSatttgagcaggggttaggac																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr11:95724824_95724825insA	ENST00000524717.1	-	3	3486_3487	c.2202_2203insT	c.(2200-2205)aatccafs	p.P735fs		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	735					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAGTGTTTGGATTTGAGCAGG	0.475			T	"MECT1, CRTC3"	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0																																										SO:0001589	frameshift_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"mastermind (Drosophila)-like 2"			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2203dupT	11.37:g.95724825_95724825dupA	ENSP00000434552:p.Pro735fs		A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Frame_Shift_Ins	INS	pfam_Neuroggenic_mastermind-like_N	p.P734fs	ENST00000524717.1	37	c.2203_2202	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.475	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1		0	68	0	-			95724825	-1	tier1		no_errors	ENST00000524717	ensembl	human	known	74_37	frame_shift_ins	47.27	29	26	INS	1.000:1.000	A	A	95724825	-	A	95724824	7	5	111	1	0	1	1	0	0	0	0	0	9244	1174	41	0	1279	0	MAML2	11	95724824	Frame_Shift_Ins	INS	-	TCGA-LN-A4A1-01A-21D-A27G-09	18034720	95724824	39281692	115	30211											
TAS2R7	50837	genome.wustl.edu	37	chr12	10954348	10954348	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttgaggggtagattagAgctatggactcaccaaaaat	14	10	11	6	0	1	4	1	2	0	2	1	5	1	5	1	3	1	2	1	3	5	4	rs558100889		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:10954348A>T	ENST00000240687.2	-	1	878	c.822T>A	c.(820-822)gcT>gcA	p.A274A		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	274					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GGTAGATTAGAGCTATGGACT	0.378													A|||	1	0.000199681	0	0	5008	,	,		20280	0		0	False		,,,				2504	0.001																0													103	104	104					12																	10954348		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.822T>A	12.37:g.10954348A>T			Q645Y1	Silent	SNP	pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A274	ENST00000240687.2	37	c.822	CCDS8631.1	12																																																																																			TAS2R7	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000121377		0.378	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R7	HGNC	protein_coding	OTTHUMT00000399931.1	-	0	35	0	A			10954348	-1	tier1	-	no_errors	ENST00000240687	ensembl	human	known	74_37	silent	16.13	26	5	SNP	0.002	T	T	10954348	A	T	10954348	2	4	111	1	0	0	0	0	0	0	0	1	15633	291	11	5		5	TAS2R7	12	10954348	Silent	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09		10954348	122897547	116	30212											
ETNK1	55500	genome.wustl.edu	37	chr12	22826493	22826493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactacagagtcagtggctgCgtgcttaccttgaagcctac	10	10	10	11	1	1	2	1	1	0	1	1	2	1	2	2	1	7	2	2	1	5	4	rs371547299	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:22826493C>T	ENST00000266517.4	+	6	1200	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	371					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGTGGCTGCGTGCTTACCT	0.363													C|||	2	0.000399361	0	0.0029	5008	,	,		16392	0		0	False		,,,				2504	0				Esophageal Squamous(42;87 913 3224 6226 43339)												0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89	90	90		1111	4.2	1	12		90	0,8600		0,0,4300	no	missense	ETNK1	NM_018638.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	371/453	22826493	1,13005	2203	4300	6503	SO:0001583	missense	0			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.1111C>T	12.37:g.22826493C>T	ENSP00000266517:p.Arg371Cys		G5E969	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.R371C	ENST00000266517.4	37	c.1111	CCDS8698.1	12	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548513	0.65311	2.27E-4	0.0	ENSG00000139163	ENST00000266517;ENST00000381409	T	0.59224	0.28	5.13	4.16	0.48862	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	M	0.80982	2.52	0.80722	D	1	D;B	0.71674	0.998;0.231	P;B	0.55260	0.772;0.055	T	0.72577	-0.4251	10	0.62326	D	0.03	-1.2295	9.9334	0.41537	0.3572:0.6428:0.0:0.0	.	371;371	E9PD44;Q9HBU6	.;EKI1_HUMAN	C	371	ENSP00000266517:R371C	ENSP00000266517:R371C	R	+	1	0	ETNK1	22717760	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	4.435000	0.59941	2.380000	0.81148	0.585000	0.79938	CGT	ETNK1	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	ENSG00000139163		0.363	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK1	HGNC	protein_coding	OTTHUMT00000401926.2		0	28	0	C	NM_018638		22826493	1			no_errors	ENST00000266517	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T	T	22826493	C	T	22826493	3	4	111	1	0	0	0	0	1	0	0	0	5289	768	27	1	1231	1	ETNK1	12	22826493	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	11872145	22826493	111025402	117	30213											
MLL2	8085	genome.wustl.edu	37	chr12	49426774	49426774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgttgctgttgcagcTgctgctgctgctgaagctgc	3	14	14	10	0	0	1	0	1	0	0	0	1	0	1	0	0	10	12	0	0	1	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:49426774T>A	ENST00000301067.7	-	39	11713	c.11714A>T	c.(11713-11715)cAg>cTg	p.Q3905L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3905	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ctgttgcagctgctgctgctg	0.562																																																	0													11	15	14					12																	49426774		1761	3258	5019	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11714A>T	12.37:g.49426774T>A	ENSP00000301067:p.Gln3905Leu		O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3905L	ENST00000301067.7	37	c.11714	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	T	1.076	-0.668547	0.03403	.	.	ENSG00000167548	ENST00000301067	D	0.91237	-2.81	4.42	3.23	0.37069	.	.	.	.	.	T	0.80433	0.4622	N	0.08118	0	0.19775	N	0.999956	B	0.12630	0.006	B	0.08055	0.003	T	0.71244	-0.4650	9	0.87932	D	0	.	9.494	0.38978	0.1586:0.0:0.0:0.8414	.	3905	O14686	MLL2_HUMAN	L	3905	ENSP00000301067:Q3905L	ENSP00000301067:Q3905L	Q	-	2	0	MLL2	47713041	0.985000	0.35326	0.779000	0.31741	0.321000	0.28281	2.346000	0.44027	0.789000	0.33779	0.533000	0.62120	CAG	KMT2D	-	NULL	ENSG00000167548		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0	64	0	T			49426774	-1			no_errors	ENST00000301067	ensembl	human	known	74_37	missense	6.12	46	3	SNP	0.688	A	A	49426774	T	A	49426774	3	1	111	1	0	0	0	0	1	0	0	0	9659	1580	55	5	4963	5	MLL2	12	49426774	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	26600281	49426774	84425121	118	30214											
GRASP	160622	genome.wustl.edu	37	chr12	52407950	52407950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtggggagagtacaGgtccctaatggtgcaggagc	11	7	17	6	0	0	2	0	1	0	2	1	5	1	3	1	5	3	2	1	5	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:52407950G>T	ENST00000293662.4	+	7	727	c.647G>T	c.(646-648)aGg>aTg	p.R216M	GRASP_ENST00000552963.1_3'UTR|GRASP_ENST00000380039.2_Missense_Mutation_p.R73M|GRASP_ENST00000552049.1_Missense_Mutation_p.R73M	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	216	Interaction with PSCD3. {ECO:0000250}.				protein localization (GO:0008104)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGAGAGTACAGGTCCCTAATG	0.582																																																	0													82	71	74					12																	52407950		2202	4300	6502	SO:0001583	missense	0			AC019244	CCDS8817.1, CCDS61124.1	12q13.13	2011-09-02			ENSG00000161835	ENSG00000161835			18707	protein-coding gene	gene with protein product		612027				10828067	Standard	NM_001271856		Approved		uc001rzo.2	Q7Z6J2	OTTHUMG00000169595	ENST00000293662.4:c.647G>T	12.37:g.52407950G>T	ENSP00000293662:p.Arg216Met		Q6PIF8|Q7Z741	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R216M	ENST00000293662.4	37	c.647	CCDS8817.1	12	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615955	0.87359	.	.	ENSG00000161835	ENST00000293662;ENST00000552049;ENST00000546756;ENST00000380039	T;T	0.59638	0.25;0.55	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.60455	1.87	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.74621	-0.3604	10	0.87932	D	0	1.1324	13.6227	0.62146	0.0:0.0:1.0:0.0	.	73;216	Q7Z6J2-2;Q7Z6J2	.;GRASP_HUMAN	M	216;73;86;73	ENSP00000293662:R216M;ENSP00000448476:R86M	ENSP00000293662:R216M	R	+	2	0	GRASP	50694217	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.368000	0.90115	2.280000	0.76307	0.460000	0.39030	AGG	GRASP	-	NULL	ENSG00000161835		0.582	GRASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRASP	HGNC	protein_coding	OTTHUMT00000404972.1	-	0	60	0	G			52407950	1	tier1	-	no_errors	ENST00000293662	ensembl	human	known	74_37	missense	9.80	46	5	SNP	1.000	T	T	52407950	G	T	52407950	3	4	111	1	0	0	0	0	1	0	0	0	6782	1000	35	3	673	3	GRASP	12	52407950	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	2981176	52407950	81443945	119	30215											
KRT81	3887	genome.wustl.edu	37	chr12	52681102	52681102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccaccgcggcctccagcttgGagttctgaagagaacagaaa	12	6	11	12	2	1	3	0	1	1	2	2	5	2	4	4	2	2	2	4	2	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:52681102G>C	ENST00000327741.5	-	7	1099	c.1031C>G	c.(1030-1032)tCc>tGc	p.S344C	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	344	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCAGCTTGGAGTTCTGAAG	0.607																																																	0													26	29	28					12																	52681102		2203	4300	6503	SO:0001583	missense	0			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"-", "Intermediate filaments type II, keratins (basic)"	6458	protein-coding gene	gene with protein product	"hard keratin type II 1"	602153	"keratin, hair, basic, 1"	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1031C>G	12.37:g.52681102G>C	ENSP00000369349:p.Ser344Cys		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.S344C	ENST00000327741.5	37	c.1031	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	G	7.011	0.556868	0.13436	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.89552	-2.53	4.99	4.99	0.66335	Filament (1);	0.372474	0.19474	U	0.113369	D	0.83041	0.5168	L	0.28400	0.85	0.34030	D	0.653679	B	0.10296	0.003	B	0.12837	0.008	T	0.83182	-0.0088	10	0.37606	T	0.19	.	13.9487	0.64101	0.0:0.1521:0.8479:0.0	.	344	Q14533	KRT81_HUMAN	C	344	ENSP00000369349:S344C	ENSP00000369349:S344C	S	-	2	0	KRT81	50967369	0.954000	0.32549	0.996000	0.52242	0.159000	0.22180	1.857000	0.39399	2.303000	0.77524	0.561000	0.74099	TCC	KRT81	-	pfam_IF	ENSG00000205426		0.607	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	-	0	31	0	G	NM_002281		52681102	-1	tier1	-	no_errors	ENST00000327741	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.998	C	C	52681102	G	C	52681102	3	2	111	1	0	0	0	0	1	0	0	0	8522	1174	41	5	498	5	KRT81	12	52681102	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	273152	52681102	81170793	120	30216											
KRT73	319101	genome.wustl.edu	37	chr12	53004427	53004427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccctccagcagcttgcGgtaggtggcgatctcaatat	7	10	11	13	3	1	0	1	0	1	0	4	1	2	0	2	3	3	3	2	3	3	3	rs555553903		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:53004427G>T	ENST00000305748.3	-	7	1337	c.1303C>A	c.(1303-1305)Cgc>Agc	p.R435S	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	435	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R435G(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCAGCTTGCGGTAGGTGGCG	0.602																																																	1	Substitution - Missense(1)	lung(1)											91	78	82					12																	53004427		2203	4300	6503	SO:0001583	missense	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"-", "Intermediate filaments type II, keratins (basic)"	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1303C>A	12.37:g.53004427G>T	ENSP00000307014:p.Arg435Ser		Q32MB2	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R435S	ENST00000305748.3	37	c.1303	CCDS8834.1	12	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687584	0.68157	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;D	0.94723	-3.5;-3.5	5.47	2.34	0.29019	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.47093	D	0.000256	D	0.97393	0.9147	H	0.98238	4.18	0.35968	D	0.835127	P	0.45044	0.849	P	0.50490	0.642	D	0.99954	1.1586	10	0.72032	D	0.01	.	14.4561	0.67418	0.0:0.0:0.4254:0.5746	.	435	Q86Y46	K2C73_HUMAN	S	435;180	ENSP00000307014:R435S;ENSP00000449081:R180S	ENSP00000307014:R435S	R	-	1	0	KRT73	51290694	0.980000	0.34600	1.000000	0.80357	0.930000	0.56654	0.713000	0.25794	0.719000	0.32188	-0.397000	0.06425	CGC	KRT73	-	pfam_IF	ENSG00000186049		0.602	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT73	HGNC	protein_coding	OTTHUMT00000405700.1		0	48	0	G	NM_175068		53004427	-1			no_errors	ENST00000305748	ensembl	human	known	74_37	missense	5.66	50	3	SNP	1.000	T	T	53004427	G	T	53004427	3	4	111	1	0	0	0	0	1	0	0	0	8513	1116	39	2	331	2	KRT73	12	53004427	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	323325	53004427	80847468	121	30217											
SP1	6667	genome.wustl.edu	37	chr12	53800472	53800472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagcccagatgcccaaccCcaagccggtcggaggacccg	11	2	11	17	3	0	1	0	0	0	1	1	3	0	3	6	3	5	0	6	3	3	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:53800472C>T	ENST00000327443.4	+	4	1877	c.1779C>T	c.(1777-1779)ccC>ccT	p.P593P	SP1_ENST00000426431.2_Silent_p.P586P	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	593	Transactivation domain C (highly charged).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATGCCCAACCCCAAGCCGGTC	0.537																																																	0													64	65	65					12																	53800472		2203	4300	6503	SO:0001819	synonymous_variant	0			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"Specificity protein transcription factors", "Zinc fingers, C2H2-type"	11205	protein-coding gene	gene with protein product	"specificity protein 1"	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1779C>T	12.37:g.53800472C>T			E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P593	ENST00000327443.4	37	c.1779	CCDS8857.1	12																																																																																			SP1	-	NULL	ENSG00000185591		0.537	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	-	0	48	0	C			53800472	1	tier1	-	no_errors	ENST00000327443	ensembl	human	known	74_37	silent	47.83	24	22	SNP	1.000	T	T	53800472	C	T	53800472	2	4	111	1	0	0	0	0	0	0	0	1	15004	610	22	3		3	SP1	12	53800472	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	796045	53800472	80051423	122	30218											
PLXNC1	10154	genome.wustl.edu	37	chr12	94691141	94691141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcaaggaaagagacatcGagggaagcacaagttcaaag	17	5	13	6	1	1	1	1	0	0	1	2	5	1	3	0	2	2	3	0	2	5	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:94691141G>A	ENST00000258526.4	+	26	4265	c.4016G>A	c.(4015-4017)cGa>cAa	p.R1339Q	PLXNC1_ENST00000547057.1_Missense_Mutation_p.R386Q|PLXNC1_ENST00000545312.1_Missense_Mutation_p.R78Q	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1339					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R1339Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGAGACATCGAGGGAAGCAC	0.463																																																	1	Substitution - Missense(1)	lung(1)											108	95	99					12																	94691141		2203	4300	6503	SO:0001583	missense	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"CD molecules", "Plexins"	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4016G>A	12.37:g.94691141G>A	ENSP00000258526:p.Arg1339Gln		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1339Q	ENST00000258526.4	37	c.4016	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567859	0.45798	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11385	2.78;2.78;2.78	5.03	4.13	0.48395	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.201429	0.43747	D	0.000531	T	0.04003	0.0112	N	0.05124	-0.11	0.37532	D	0.917946	B;B	0.30511	0.007;0.282	B;B	0.22386	0.002;0.039	T	0.40421	-0.9564	10	0.32370	T	0.25	.	4.753	0.13070	0.3128:0.0:0.6872:0.0	.	386;1339	B4DHQ7;O60486	.;PLXC1_HUMAN	Q	1339;386;78	ENSP00000258526:R1339Q;ENSP00000446720:R386Q;ENSP00000439225:R78Q	ENSP00000258526:R1339Q	R	+	2	0	PLXNC1	93215272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.822000	0.62686	2.337000	0.79520	0.462000	0.41574	CGA	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000136040		0.463	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2		0	45	0	G			94691141	1			no_errors	ENST00000258526	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	A	A	94691141	G	A	94691141	3	1	111	1	0	0	0	0	1	0	0	0	12165	1058	37	1	4118	1	PLXNC1	12	94691141	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	40890669	94691141	39160754	123	30219											
SART3	9733	genome.wustl.edu	37	chr12	108923976	108923976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctgctccgcgcttctctgGgcctctgatctttttcttct	2	18	7	14	2	6	1	0	1	6	0	8	1	7	1	2	1	1	2	2	1	0	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:108923976G>A	ENST00000228284.3	-	15	2092	c.1858C>T	c.(1858-1860)Cca>Tca	p.P620S	SART3_ENST00000431469.2_Missense_Mutation_p.P584S	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	620	Required for nuclear localization.				cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CGCTTCTCTGGGCCTCTGATC	0.458									Porokeratosis																																								0													183	161	169					12																	108923976		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"RNA binding motif (RRM) containing"	16860	protein-coding gene	gene with protein product		611684	"squamous cell carcinoma antigen recognised by T cells 3"			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1858C>T	12.37:g.108923976G>A	ENSP00000228284:p.Pro620Ser		A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom	p.P620S	ENST00000228284.3	37	c.1858	CCDS9117.1	12	.	.	.	.	.	.	.	.	.	.	G	2.166	-0.390919	0.04932	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	T;T;T	0.56444	2.47;2.42;0.46	5.79	0.861	0.19048	.	0.904892	0.09674	N	0.770773	T	0.25269	0.0614	N	0.08118	0	0.09310	N	0.999994	B;B;B;B	0.12630	0.0;0.005;0.001;0.006	B;B;B;B	0.15052	0.001;0.012;0.003;0.005	T	0.22871	-1.0204	10	0.11485	T	0.65	1.6652	3.5237	0.07752	0.1158:0.5697:0.1195:0.1949	.	568;638;584;620	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	S	620;584;196;568;638	ENSP00000228284:P620S;ENSP00000414453:P584S;ENSP00000449386:P638S	ENSP00000228284:P620S	P	-	1	0	SART3	107448106	0.006000	0.16342	0.000000	0.03702	0.129000	0.20672	1.758000	0.38410	-0.103000	0.12175	-0.867000	0.03001	CCA	SART3	-	NULL	ENSG00000075856		0.458	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SART3	HGNC	protein_coding	OTTHUMT00000404094.1	-	0	30	0	G			108923976	-1	tier1	-	no_errors	ENST00000228284	ensembl	human	known	74_37	missense	75.00	6	18	SNP	0.008	A	A	108923976	G	A	108923976	3	1	111	1	0	0	0	0	1	0	0	0	13892	1232	43	3	1053	3	SART3	12	108923976	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	14232835	108923976	24927919	124	30220											
PTPN11	5781	genome.wustl.edu	37	chr12	112891121	112891121	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattttgttctttctgtgcGcactggtgatgacaaagggg	8	14	13	6	1	2	3	0	2	2	1	2	3	2	3	0	3	1	2	0	3	1	4	rs397507521		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:112891121G>T	ENST00000351677.2	+	4	653	c.455G>T	c.(454-456)cGc>cTc	p.R152L	PTPN11_ENST00000392597.1_Missense_Mutation_p.R152L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	152	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.R152H(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CTTTCTGTGCGCACTGGTGAT	0.443			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											129	125	126					12																	112891121		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.455G>T	12.37:g.112891121G>T	ENSP00000340944:p.Arg152Leu		A8K1D9|Q96HD7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.R152L	ENST00000351677.2	37	c.455	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118303	0.56505	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.88431	-2.38;-2.38	5.55	5.55	0.83447	.	0.054496	0.85682	D	0.000000	D	0.84138	0.5406	L	0.33485	1.01	0.80722	D	1	B;B	0.20550	0.046;0.017	B;B	0.23574	0.022;0.047	T	0.78884	-0.2028	10	0.11794	T	0.64	.	19.5088	0.95132	0.0:0.0:1.0:0.0	.	152;152	Q06124-2;Q06124-3	.;.	L	152	ENSP00000376376:R152L;ENSP00000340944:R152L	ENSP00000340944:R152L	R	+	2	0	PTPN11	111375504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.548000	0.67255	2.624000	0.88883	0.555000	0.69702	CGC	PTPN11	-	pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2	ENSG00000179295		0.443	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	HGNC	protein_coding	OTTHUMT00000259496.2		0	38	0	G			112891121	1			no_errors	ENST00000351677	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	T	T	112891121	G	T	112891121	3	4	111	1	0	0	0	0	1	0	0	0	12823	1087	38	2	469	2	PTPN11	12	112891121	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	3967145	112891121	20960774	125	30221											
P2RX4	5025	genome.wustl.edu	37	chr12	121647986	121647986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcgggctgctgcgccGcgctggcggccttcctgttc	1	9	15	16	5	0	0	0	0	0	0	2	0	1	0	4	4	2	4	4	4	0	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:121647986G>T	ENST00000337233.4	+	1	327	c.19G>T	c.(19-21)Gcg>Tcg	p.A7S	P2RX4_ENST00000543171.1_5'UTR|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000541532.1_Missense_Mutation_p.A7S|P2RX4_ENST00000359949.7_Missense_Mutation_p.A7S	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	7					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGCTGCGCCGCGCTGGCGGC	0.721																																																	0													9	10	10					12																	121647986		2132	4200	6332	SO:0001583	missense	0			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"Purinergic receptors", "Ligand-gated ion channels / Purinergic receptors, ionotropic"	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.19G>T	12.37:g.121647986G>T	ENSP00000336607:p.Ala7Ser		E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor	p.A7S	ENST00000337233.4	37	c.19	CCDS9214.1	12	.	.	.	.	.	.	.	.	.	.	G	5.564	0.288828	0.10513	.	.	ENSG00000135124	ENST00000337233;ENST00000359949;ENST00000541532;ENST00000538701;ENST00000542067	T;T;T;T;T	0.22336	3.67;3.66;1.96;2.77;3.56	3.91	1.82	0.25136	.	1.449520	0.03873	N	0.275931	T	0.13157	0.0319	N	0.14661	0.345	0.25937	N	0.982924	B;B;B	0.13594	0.005;0.008;0.003	B;B;B	0.11329	0.006;0.006;0.002	T	0.24012	-1.0172	10	0.13470	T	0.59	-3.2271	8.5869	0.33664	0.0:0.303:0.542:0.1549	.	7;7;7	F6RU17;E7EPF7;Q99571	.;.;P2RX4_HUMAN	S	7	ENSP00000336607:A7S;ENSP00000353032:A7S;ENSP00000443115:A7S;ENSP00000444033:A7S;ENSP00000438329:A7S	ENSP00000336607:A7S	A	+	1	0	P2RX4	120132369	0.016000	0.18221	0.004000	0.12327	0.854000	0.48673	1.790000	0.38734	0.960000	0.38005	0.407000	0.27541	GCG	P2RX4	-	prints_P2X4_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor	ENSG00000135124		0.721	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX4	HGNC	protein_coding	OTTHUMT00000402545.1	-	0	17	0	G	NM_175567		121647986	1	tier1	-	no_errors	ENST00000337233	ensembl	human	known	74_37	missense	61.54	5	8	SNP	0.002	T	T	121647986	G	T	121647986	3	4	111	1	0	0	0	0	1	0	0	0	11381	1087	38	2	21	2	P2RX4	12	121647986	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	8756865	121647986	12203909	126	30222											
GPR109B	8843	genome.wustl.edu	37	chr12	123200613	123200613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggctctcttgatcttGgcatgccggtccatttgtct	4	16	11	10	1	3	2	0	2	3	0	5	2	4	2	2	3	1	2	2	3	0	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:123200613G>A	ENST00000528880.2	-	1	826	c.672C>T	c.(670-672)gcC>gcT	p.A224A	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	224					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	TCTTGATCTTGGCATGCCGGT	0.547																																																	0													37	39	39					12																	123200613		2201	4278	6479	SO:0001819	synonymous_variant	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"GPCR / Class A : Hydroxy-carboxylic acid receptors"	16824	protein-coding gene	gene with protein product		606039	"G protein-coupled receptor 109B"	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.672C>T	12.37:g.123200613G>A			A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A224	ENST00000528880.2	37	c.672	CCDS53842.1	12																																																																																			HCAR3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000255398		0.547	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2		0	14	0	G	NM_006018		123200613	-1			no_errors	ENST00000528880	ensembl	human	known	74_37	silent	57.14	3	4	SNP	0.446	A	A	123200613	G	A	123200613	2	1	111	1	0	0	0	0	0	0	0	1	6652	1335	47	3		3	GPR109B	12	123200613	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1552627	123200613	10651282	127	30223											
DNAH10	196385	genome.wustl.edu	37	chr12	124332585	124332585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaccaccaaggacctggcGaaagccttgggcttgctctg	9	7	13	12	1	1	1	0	0	1	1	1	4	1	2	4	3	2	2	4	3	2	2	rs377062646		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr12:124332585G>A	ENST00000409039.3	+	32	5563	c.5538G>A	c.(5536-5538)gcG>gcA	p.A1846A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1846	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGACCTGGCGAAAGCCTTGG	0.567																																																	0								G		1,4017		0,1,2008	117	120	119		5538	-1.9	1	12		119	1,8375		0,1,4187	no	coding-synonymous	DNAH10	NM_207437.3		0,2,6195	AA,AG,GG		0.0119,0.0249,0.0161		1846/4472	124332585	2,12392	2009	4188	6197	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"Axonemal dyneins"	2941	protein-coding gene	gene with protein product		605884	"dynein, axonemal, heavy polypeptide 10"				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5538G>A	12.37:g.124332585G>A			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.A1846	ENST00000409039.3	37	c.5538	CCDS9255.2	12																																																																																			DNAH10	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197653		0.567	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3		0	59	0	G			124332585	1			no_errors	ENST00000409039	ensembl	human	known	74_37	silent	5.13	37	2	SNP	1.000	A	A	124332585	G	A	124332585	2	1	111	1	0	0	0	0	0	0	0	1	4612	1045	37	1		1	DNAH10	12	124332585	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1131972	124332585	9519310	128	30224											
PDS5B	23047	genome.wustl.edu	37	chr13	33338643	33338643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggcttgatagttctgaaAtggatcacagtgaaaatgaa	17	10	10	4	0	2	4	1	4	1	0	2	5	2	5	0	2	0	2	0	2	6	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr13:33338643A>G	ENST00000315596.10	+	31	3721	c.3535A>G	c.(3535-3537)Atg>Gtg	p.M1179V	RNY1P4_ENST00000384595.1_RNA	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1179					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TAGTTCTGAAATGGATCACAG	0.343																																																	0													103	99	100					13																	33338643		1839	4087	5926	SO:0001583	missense	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"androgen-induced proliferation inhibitor"	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3535A>G	13.37:g.33338643A>G	ENSP00000313851:p.Met1179Val		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M1179V	ENST00000315596.10	37	c.3535	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	A	1.407	-0.576577	0.03854	.	.	ENSG00000083642	ENST00000315596;ENST00000421084;ENST00000447833	.	.	.	5.39	5.39	0.77823	.	0.120134	0.85682	D	0.000000	T	0.32971	0.0847	N	0.14661	0.345	0.37117	D	0.900616	B	0.06786	0.001	B	0.06405	0.002	T	0.29941	-0.9995	9	0.25751	T	0.34	-18.148	9.6813	0.40072	0.7327:0.0:0.0:0.2673	.	1179	Q9NTI5	PDS5B_HUMAN	V	1179;1179;133	.	ENSP00000313851:M1179V	M	+	1	0	PDS5B	32236643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.012000	0.49575	2.149000	0.67028	0.528000	0.53228	ATG	PDS5B	-	NULL	ENSG00000083642		0.343	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	-	0	57	0	A	NM_015032		33338643	1	tier1	-	no_errors	ENST00000315596	ensembl	human	known	74_37	missense	38.75	49	31	SNP	1.000	G	G	33338643	A	G	33338643	3	3	111	1	0	0	0	0	1	0	0	0	11731	101	4	4	3653	4	PDS5B	13	33338643	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09		33338643	81831235	129	30225											
LIG4	3981	genome.wustl.edu	37	chr13	108863310	108863310	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgagggcatcttttcCatctctaggtaaattaagca	12	14	8	7	0	2	1	0	1	2	0	4	1	3	1	1	2	1	4	1	2	5	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr13:108863310C>A	ENST00000356922.4	-	2	579	c.307G>T	c.(307-309)Gga>Tga	p.G103*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.G103*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.G103*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	103					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCATCTTTTCCATCTCTAGGT	0.378								Non-homologous end-joining																																									0													130	137	134					13																	108863310		2203	4300	6503	SO:0001587	stop_gained	0			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"polydeoxyribonucleotide synthase [ATP] 4", "polynucleotide ligase", "sealase", "DNA repair enzyme", "DNA joinase"	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.307G>T	13.37:g.108863310C>A	ENSP00000349393:p.Gly103*		Q8IY66|Q8TEU5	Nonsense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.G103*	ENST00000356922.4	37	c.307	CCDS9508.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.158901	0.97334	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.8212	0.92097	0.0:1.0:0.0:0.0	.	.	.	.	X	103	.	ENSP00000349393:G103X	G	-	1	0	LIG4	107661311	1.000000	0.71417	0.814000	0.32528	0.838000	0.47535	7.424000	0.80242	2.678000	0.91216	0.643000	0.83706	GGA	LIG4	-	pfam_DNA_ligase_ATP-dep_N,superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep	ENSG00000174405		0.378	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG4	HGNC	protein_coding	OTTHUMT00000045738.4	-	0	37	0	C	NM_002312		108863310	-1	tier1	-	no_errors	ENST00000356922	ensembl	human	known	74_37	nonsense	27.27	16	6	SNP	1.000	A	A	108863310	C	A	108863310	4	1	111	1	0	0	0	0	0	1	0	0	8812	603	21	3	2432	3	LIG4	13	108863310	Nonsense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	75524667	108863310	6306568	130	30226											
C13orf28	122258	genome.wustl.edu	37	chr13	113055455	113055455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaggtgtctcctggcaGtgagaagagtgtttccagta	9	10	13	9	0	1	2	0	1	1	2	3	3	2	2	3	2	0	3	3	2	2	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr13:113055455G>T	ENST00000283550.3	+	5	489	c.422G>T	c.(421-423)aGt>aTt	p.S141I	SPACA7_ENST00000375699.3_Missense_Mutation_p.S110I	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	141						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						tctcctggcagtgagaagagt	0.493																																																	0													134	119	124					13																	113055455		2203	4300	6503	SO:0001583	missense	0			BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 28"	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.422G>T	13.37:g.113055455G>T	ENSP00000283550:p.Ser141Ile		Q5T8L1	Missense_Mutation	SNP	NULL	p.S141I	ENST00000283550.3	37	c.422	CCDS9524.1	13	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761938	0.31228	.	.	ENSG00000153498	ENST00000283550;ENST00000375699	T;T	0.53423	0.65;0.62	2.52	-4.77	0.03219	.	.	.	.	.	T	0.22975	0.0555	N	0.19112	0.55	0.09310	N	1	P	0.35821	0.523	B	0.32724	0.151	T	0.10660	-1.0620	9	0.59425	D	0.04	-1.4936	1.1788	0.01841	0.432:0.1518:0.263:0.1531	.	141	Q96KW9	SPAC7_HUMAN	I	141;110	ENSP00000283550:S141I;ENSP00000364851:S110I	ENSP00000283550:S141I	S	+	2	0	SPACA7	112103456	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.027000	0.12371	-1.519000	0.01775	-1.108000	0.02087	AGT	SPACA7	-	NULL	ENSG00000153498		0.493	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPACA7	HGNC	protein_coding	OTTHUMT00000045820.2	-	0	67	0	G	NM_145248		113055455	1	tier1	-	no_errors	ENST00000283550	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.000	T	T	113055455	G	T	113055455	3	4	111	1	0	0	0	0	1	0	0	0	1729	1029	36	3	440	3	C13orf28	13	113055455	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	4192145	113055455	2114423	131	30227											
OR4K5	79317	genome.wustl.edu	37	chr14	20389443	20389444	+	Missense_Mutation	DNP	GC	GC	TT																															attattcttgttacagtttgGctcaagtcttcagctgcaat																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr14:20389443_20389444GC>TT	ENST00000315915.4	+	1	703_704	c.678_679GC>TT	c.(676-681)tgGCtc>tgTTtc	p.226_227WL>CF		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACAGTTTGGCTCAAGTCTTC	0.391																																																	0																																										SO:0001583	missense	0			BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"GPCR / Class A : Olfactory receptors"	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		Exception_encountered	14.37:g.20389443_20389444delinsTT	ENSP00000319511:p.W226_L227delinsCF		Q6IFA7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W226C|p.L227F	ENST00000315915.4	37	c.678|c.679	CCDS32024.1	14																																																																																			OR4K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176281		0.391	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K5	HGNC	protein_coding	OTTHUMT00000409867.1	-	0	80|81	0	G|C	NM_001005483		20389443|20389444	1	tier1	-	no_errors	ENST00000315915	ensembl	human	known	74_37	missense	22.73|23.08	51|49	15	SNP	0.000	T	TT	20389444	GC	TT	20389443	3	4	111	1	0	0	0	0	1	0	0	0	11112	1212	42	3	680	3	OR4K5	14	20389443	Missense_Mutation	DNP	GC	TCGA-LN-A4A1-01A-21D-A27G-09		20389443	86960097	132	30228											
FITM1	161247	genome.wustl.edu	37	chr14	24601457	24601457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggggctggacatgcactTtcttagggggctttgtgttg	4	14	15	8	0	1	0	0	0	1	0	1	1	1	1	1	5	1	4	1	5	1	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr14:24601457T>C	ENST00000267426.5	+	2	593	c.304T>C	c.(304-306)Ttc>Ctc	p.F102L	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	102					lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.F102I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GACATGCACTTTCTTAGGGGG	0.567																																																	1	Substitution - Missense(1)	breast(1)											92	94	93					14																	24601457		2203	4300	6503	SO:0001583	missense	0				CCDS9611.1	14q12	2009-07-09			ENSG00000139914	ENSG00000139914			33714	protein-coding gene	gene with protein product	"fat-inducing transcript 1"	612028				18160536	Standard	NM_203402		Approved	FIT1	uc001wmf.2	A5D6W6	OTTHUMG00000133476	ENST00000267426.5:c.304T>C	14.37:g.24601457T>C	ENSP00000267426:p.Phe102Leu		Q8IUQ7	Missense_Mutation	SNP	pfam_FIT	p.F102L	ENST00000267426.5	37	c.304	CCDS9611.1	14	.	.	.	.	.	.	.	.	.	.	t	2.922	-0.223071	0.06061	.	.	ENSG00000139914	ENST00000267426	.	.	.	5.36	5.36	0.76844	.	0.061993	0.64402	D	0.000004	T	0.21590	0.0520	N	0.02368	-0.58	0.80722	D	1	B	0.16396	0.017	B	0.17433	0.018	T	0.21999	-1.0229	9	0.05620	T	0.96	-14.3606	7.9709	0.30127	0.0:0.091:0.0:0.909	.	102	A5D6W6	FITM1_HUMAN	L	102	.	ENSP00000267426:F102L	F	+	1	0	FITM1	23671297	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.463000	0.35277	2.028000	0.59812	0.379000	0.24179	TTC	FITM1	-	pfam_FIT	ENSG00000139914		0.567	FITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FITM1	HGNC	protein_coding	OTTHUMT00000257366.1	-	0	30	0	T	NM_203402		24601457	1	tier1	-	no_errors	ENST00000267426	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	C	C	24601457	T	C	24601457	3	2	111	1	0	0	0	0	1	0	0	0	5920	1841	64	4	310	4	FITM1	14	24601457	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	4212014	24601457	82748083	133	30229											
C14orf101	54916	genome.wustl.edu	37	chr14	57113980	57113980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttataaggagattgtctAtttacaaaaggagcacccag	14	11	9	7	0	1	1	0	0	1	1	1	3	1	2	1	2	2	2	1	2	6	7	rs61739407	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr14:57113980A>G	ENST00000261556.6	+	16	2011	c.1889A>G	c.(1888-1890)tAt>tGt	p.Y630C	RP11-1085N6.2_ENST00000555924.1_RNA|TMEM260_ENST00000536419.1_Missense_Mutation_p.Y164C|RP11-1085N6.2_ENST00000553800.1_RNA	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	630						integral component of membrane (GO:0016021)											GAGATTGTCTATTTACAAAAG	0.393													A|||	4	0.000798722	0.003	0	5008	,	,		17276	0		0	False		,,,				2504	0																0								A	CYS/TYR	7,4399	12.9+/-30.5	0,7,2196	43	42	42		1889	-1.5	0	14	dbSNP_129	42	0,8600		0,0,4300	yes	missense	C14orf101	NM_017799.3	194	0,7,6496	GG,GA,AA		0.0,0.1589,0.0538	benign	630/708	57113980	7,12999	2203	4300	6503	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"chromosome 14 open reading frame 101"	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.1889A>G	14.37:g.57113980A>G	ENSP00000261556:p.Tyr630Cys		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	pfam_DUF2723	p.Y630C	ENST00000261556.6	37	c.1889	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	A	8.235	0.805443	0.16467	0.001589	0.0	ENSG00000070269	ENST00000261556;ENST00000536419	T;T	0.43688	1.52;0.94	5.54	-1.55	0.08558	.	0.487136	0.23489	N	0.047636	T	0.19287	0.0463	L	0.27053	0.805	0.09310	N	1	P	0.52463	0.953	B	0.36959	0.237	T	0.27331	-1.0077	10	0.37606	T	0.19	-1.5106	4.3556	0.11176	0.3397:0.4535:0.0965:0.1104	rs61739407	630	Q9NX78	CN101_HUMAN	C	630;164	ENSP00000261556:Y630C;ENSP00000438742:Y164C	ENSP00000261556:Y630C	Y	+	2	0	C14orf101	56183733	0.009000	0.17119	0.009000	0.14445	0.288000	0.27193	0.086000	0.14935	-0.388000	0.07797	-1.142000	0.01873	TAT	TMEM260	-	NULL	ENSG00000070269		0.393	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM260	HGNC	protein_coding	OTTHUMT00000276924.1	-	0	28	0	A	NM_017799		57113980	1	tier1	rs61739407	no_errors	ENST00000261556	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.001	G	G	57113980	A	G	57113980	3	3	111	1	0	0	0	0	1	0	0	0	1739	449	16	4	1951	4	C14orf101	14	57113980	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	32512523	57113980	50235560	134	30230											
PLEKHH1	57475	genome.wustl.edu	37	chr14	68038605	68038605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcggactaggcagcccccGggccatcaagagaggtacag	11	3	14	13	2	1	1	1	0	0	1	1	3	1	2	3	4	3	2	3	4	3	2	rs573848643	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr14:68038605G>A	ENST00000329153.5	+	10	1703	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	524						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGCAGCCCCCGGGCCATCAAG	0.627													G|||	2	0.000399361	0	0	5008	,	,		17306	0		0	False		,,,				2504	0.002																0													25	26	25					14																	68038605		1969	4149	6118	SO:0001583	missense	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1571G>A	14.37:g.68038605G>A	ENSP00000330278:p.Arg524Gln		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.R524Q	ENST00000329153.5	37	c.1571	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.288722	0.95517	.	.	ENSG00000054690	ENST00000329153	T	0.11385	2.78	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.61874	0.56;0.895	T	0.01269	-1.1400	10	0.49607	T	0.09	.	16.2597	0.82535	0.0:0.0:1.0:0.0	.	39;524	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	Q	524	ENSP00000330278:R524Q	ENSP00000330278:R524Q	R	+	2	0	PLEKHH1	67108358	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.869000	0.92326	2.486000	0.83907	0.561000	0.74099	CGG	PLEKHH1	-	NULL	ENSG00000054690		0.627	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	-	0	21	0	G	XM_031054		68038605	1	tier1	-	no_errors	ENST00000329153	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	A	A	68038605	G	A	68038605	3	1	111	1	0	0	0	0	1	0	0	0	12115	1116	39	1	1605	1	PLEKHH1	14	68038605	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	10924625	68038605	39310935	135	30231											
SIPA1L1	26037	genome.wustl.edu	37	chr14	72055491	72055491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttttcgtaaattgcgcaAtgccaaaggtgaagaacttg	13	13	9	6	2	0	2	0	1	0	1	1	2	0	2	1	1	3	2	1	1	7	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr14:72055491A>G	ENST00000555818.1	+	2	1250	c.902A>G	c.(901-903)aAt>aGt	p.N301S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N301S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N301S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	301					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAATTGCGCAATGCCAAAGGT	0.438																																																	0													67	71	70					14																	72055491		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.902A>G	14.37:g.72055491A>G	ENSP00000450832:p.Asn301Ser		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.N301S	ENST00000555818.1	37	c.902	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	A	2.117	-0.402303	0.04865	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.39787	1.06;1.06;1.06	6.07	6.07	0.98685	.	0.078520	0.85682	D	0.000000	T	0.23572	0.0570	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.25521	0.025;0.104;0.128	B;B;B	0.24155	0.02;0.051;0.039	T	0.13308	-1.0514	10	0.07175	T	0.84	-34.3801	16.6406	0.85098	1.0:0.0:0.0:0.0	.	301;301;301	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	S	301	ENSP00000370630:N301S;ENSP00000450832:N301S;ENSP00000351352:N301S	ENSP00000351352:N301S	N	+	2	0	SIPA1L1	71125244	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.638000	0.67861	2.326000	0.78906	0.533000	0.62120	AAT	SIPA1L1	-	NULL	ENSG00000197555		0.438	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1		0	39	0	A	NM_015556		72055491	1			no_errors	ENST00000555818	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	G	G	72055491	A	G	72055491	3	3	111	1	0	0	0	0	1	0	0	0	14374	101	4	4	904	4	SIPA1L1	14	72055491	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	4016886	72055491	35294049	136	30232											
CCDC88C	440193	genome.wustl.edu	37	chr14	91804354	91804354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggctccctacctccaTgcgggccttgtagaagtcca	9	8	10	14	1	0	1	0	0	0	1	3	1	3	1	5	2	3	3	5	2	4	3	rs572844946	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr14:91804354T>C	ENST00000389857.6	-	10	1131	c.1045A>G	c.(1045-1047)Atg>Gtg	p.M349V		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	349					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCTACCTCCATGCGGGCCTTG	0.622													T|||	2	0.000399361	0.0015	0	5008	,	,		18993	0		0	False		,,,				2504	0																0													49	53	52					14																	91804354		2056	4190	6246	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"Dvl-associating protein with a high frequency of leucine residues", "spinocerebellar ataxia 40"	611204	"KIAA1509"	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1045A>G	14.37:g.91804354T>C	ENSP00000374507:p.Met349Val		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.M349V	ENST00000389857.6	37	c.1045	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	T	4.773	0.143716	0.09134	.	.	ENSG00000015133	ENST00000389857	T	0.10668	2.85	5.36	4.2	0.49525	.	0.000000	0.64402	U	0.000014	T	0.03095	0.0091	N	0.00801	-1.175	0.80722	D	1	B	0.23316	0.083	B	0.28139	0.086	T	0.36504	-0.9745	10	0.02654	T	1	-42.4265	11.1506	0.48455	0.0:0.0725:0.0:0.9275	.	349	Q9P219	DAPLE_HUMAN	V	349	ENSP00000374507:M349V	ENSP00000374507:M349V	M	-	1	0	CCDC88C	90874107	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.660000	0.54496	0.880000	0.35969	0.459000	0.35465	ATG	CCDC88C	-	pfam_Hook-related_fam	ENSG00000015133		0.622	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	-	0	38	0	T	XM_029353		91804354	-1	tier1	-	no_errors	ENST00000389857	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	C	C	91804354	T	C	91804354	3	2	111	1	0	0	0	0	1	0	0	0	2872	1464	51	4	5125	4	CCDC88C	14	91804354	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	19748863	91804354	15545186	137	30233											
C14orf49	161176	genome.wustl.edu	37	chr14	95932472	95932472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcaggcccagctggagCtcgatgtggggctccagtgt	5	10	14	12	1	1	0	1	0	0	0	4	2	3	1	3	4	2	3	3	4	0	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr14:95932472C>A	ENST00000334258.5	-	3	437	c.423G>T	c.(421-423)gaG>gaT	p.E141D	SYNE3_ENST00000553340.1_Missense_Mutation_p.E141D|SYNE3_ENST00000557275.1_Missense_Mutation_p.E141D	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	141					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCAGCTGGAGCTCGATGTGGG	0.632																																																	0													63	63	63					14																	95932472		2203	4300	6503	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"chromosome 14 open reading frame 49"	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.423G>T	14.37:g.95932472C>A	ENSP00000334308:p.Glu141Asp		A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E141D	ENST00000334258.5	37	c.423	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	c	20.4	3.981592	0.74474	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.32272	1.46;1.46;1.46	4.12	4.12	0.48240	.	0.000000	0.38778	N	0.001569	T	0.45054	0.1323	M	0.68952	2.095	0.52501	D	0.999957	D;D;D	0.67145	0.996;0.996;0.993	D;D;P	0.64410	0.925;0.925;0.843	T	0.33033	-0.9884	10	0.25751	T	0.34	-23.79	7.8678	0.29547	0.0:0.8129:0.0:0.1871	.	141;141;141	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	D	141	ENSP00000334308:E141D;ENSP00000450562:E141D;ENSP00000450774:E141D	ENSP00000334308:E141D	E	-	3	2	C14orf49	95002225	1.000000	0.71417	0.999000	0.59377	0.940000	0.58332	1.448000	0.35112	1.828000	0.53243	0.298000	0.19748	GAG	SYNE3	-	NULL	ENSG00000176438		0.632	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	-	0	58	0	C	NM_152592		95932472	-1	tier1	-	no_errors	ENST00000334258	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	A	A	95932472	C	A	95932472	3	1	111	1	0	0	0	0	1	0	0	0	1781	796	28	3	2564	3	C14orf49	14	95932472	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	4128118	95932472	11417068	138	30234											
EXD1	161829	genome.wustl.edu	37	chr15	41508931	41508931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggggcaggagaagcaGgctcacatacatttaggtct	11	9	12	9	0	3	1	2	0	1	1	3	2	3	1	0	5	2	3	0	5	3	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr15:41508931G>T	ENST00000314992.5	-	3	339	c.149C>A	c.(148-150)cCt>cAt	p.P50H	EXD1_ENST00000458580.2_Missense_Mutation_p.P108H|EXD1_ENST00000559743.1_5'Flank	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	50	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						AGGAGAAGCAGGCTCACATAC	0.418																																																	0													174	148	157					15																	41508931		2203	4300	6503	SO:0001583	missense	0			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.149C>A	15.37:g.41508931G>T	ENSP00000321029:p.Pro50His		A8K909|B7Z839|Q6ZW94	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.P50H	ENST00000314992.5	37	c.149	CCDS10072.1	15	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817144	0.50633	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	T;T	0.51574	0.7;0.82	4.89	4.89	0.63831	Ribonuclease H-like (1);	0.167212	0.40554	N	0.001077	T	0.52041	0.1710	M	0.63428	1.95	0.35919	D	0.831663	D;P	0.55172	0.97;0.926	P;P	0.47673	0.554;0.456	T	0.66681	-0.5862	10	0.87932	D	0	-15.7755	13.7517	0.62912	0.0:0.0:1.0:0.0	.	108;50	B7Z839;Q8NHP7	.;EXD1_HUMAN	H	50;108	ENSP00000321029:P50H;ENSP00000415056:P108H	ENSP00000321029:P50H	P	-	2	0	EXD1	39296223	0.037000	0.19845	0.944000	0.38274	0.294000	0.27393	2.062000	0.41413	2.704000	0.92352	0.655000	0.94253	CCT	EXD1	-	superfamily_RNaseH-like_dom	ENSG00000178997		0.418	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	HGNC	protein_coding	OTTHUMT00000252553.2	-	0	109	0	G	NM_152596		41508931	-1	tier1	-	no_errors	ENST00000314992	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.938	T	T	41508931	G	T	41508931	3	4	111	1	0	0	0	0	1	0	0	0	5313	1000	35	3	1427	3	EXD1	15	41508931	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		41508931	61022461	139	30235											
GOLGA6B	55889	genome.wustl.edu	37	chr15	72958352	72958352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagagttggtgttgcccCttgtgggcaaccatgagggg	7	10	16	8	0	0	2	0	1	0	1	0	2	0	2	3	4	3	4	3	4	2	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr15:72958352C>T	ENST00000421285.3	+	17	1837	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	613						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGTGTTGCCCCTTGTGGGCAA	0.657																																																	0													6	7	7					15																	72958352		1889	3938	5827	SO:0001583	missense	0				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"golgi autoantigen, golgin subfamily a, 6B"				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1837C>T	15.37:g.72958352C>T	ENSP00000408132:p.Leu613Phe		A8MYY7	Missense_Mutation	SNP	NULL	p.L613F	ENST00000421285.3	37	c.1837	CCDS10245.2	15	.	.	.	.	.	.	.	.	.	.	.	14.15	2.448095	0.43429	.	.	ENSG00000215186	ENST00000421285	T	0.39229	1.09	0.39	0.39	0.16275	.	.	.	.	.	T	0.41811	0.1175	M	0.73962	2.25	0.40188	D	0.977374	P	0.43973	0.823	B	0.42771	0.397	T	0.47249	-0.9132	9	0.87932	D	0	.	6.668	0.23052	0.0:0.9998:0.0:2.0E-4	.	613	A6NDN3	GOG6B_HUMAN	F	613	ENSP00000408132:L613F	ENSP00000408132:L613F	L	+	1	0	GOLGA6B	70745405	0.925000	0.31364	0.102000	0.21198	0.012000	0.07955	1.665000	0.37449	0.472000	0.27344	0.134000	0.15878	CTT	GOLGA6B	-	NULL	ENSG00000215186		0.657	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6B	HGNC	protein_coding	OTTHUMT00000257474.4		0	100	0	C	NM_018652		72958352	1			no_errors	ENST00000421285	ensembl	human	known	74_37	missense	16.47	71	14	SNP	1.000	T	T	72958352	C	T	72958352	3	4	111	1	0	0	0	0	1	0	0	0	6584	681	24	3	1796	3	GOLGA6B	15	72958352	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	31449421	72958352	29573040	140	30236											
KIAA1199	57214	genome.wustl.edu	37	chr15	81235410	81235410	+	Frame_Shift_Del	DEL	A	A	-																															tctgcaaggcataccatggcAgcttttcaactatgtggcga																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr15:81235410delA	ENST00000394685.3	+	28	4243	c.3824delA	c.(3823-3825)cagfs	p.Q1275fs	KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.Q1275fs|KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.Q1275fs|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		1275					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATACCATGGCAGCTTTTCAAC	0.582																																																	0													348	327	334					15																	81235410		2203	4300	6503	SO:0001589	frameshift_variant	0																														ENST00000394685.3:c.3824delA	15.37:g.81235410delA	ENSP00000378177:p.Gln1275fs		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Frame_Shift_Del	DEL	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.Q1275fs	ENST00000394685.3	37	c.3824	CCDS10315.1	15																																																																																			KIAA1199	-	NULL	ENSG00000103888		0.582	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1		0	59	0	A			81235410	1	tier1		no_errors	ENST00000220244	ensembl	human	known	74_37	frame_shift_del	42.86	16	12	DEL	1.000	-	-	81235410	A	-	81235410	7	5	111	1	0	1	0	1	0	0	0	0	8240	188	7	0	3926	0	KIAA1199	15	81235410	Frame_Shift_Del	DEL	A	TCGA-LN-A4A1-01A-21D-A27G-09	8277058	81235410	21295982	141	30237											
ZNF592	9640	genome.wustl.edu	37	chr15	85345259	85345259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccacatacctcagcacCaggtggacagctccacagcc	12	4	9	16	0	1	1	1	0	0	1	2	2	2	2	5	2	5	2	5	2	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr15:85345259C>G	ENST00000560079.2	+	11	3727	c.3439C>G	c.(3439-3441)Cag>Gag	p.Q1147E	ZNF592_ENST00000299927.3_Missense_Mutation_p.Q1147E	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1147					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCTCAGCACCAGGTGGACAG	0.542																																																	0													72	62	66					15																	85345259		2203	4299	6502	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"Zinc fingers, C2H2-type"	28986	protein-coding gene	gene with protein product		613624	"spinocerebellar ataxia, autosomal recessive 5"	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3439C>G	15.37:g.85345259C>G	ENSP00000452877:p.Gln1147Glu		Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1147E	ENST00000560079.2	37	c.3439	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575952	0.45902	.	.	ENSG00000166716	ENST00000299927	T	0.00599	6.3	5.62	5.62	0.85841	.	0.277636	0.34986	N	0.003527	T	0.00608	0.0020	N	0.25485	0.75	0.28789	N	0.899411	B	0.11235	0.004	B	0.15484	0.013	T	0.46527	-0.9185	10	0.62326	D	0.03	-8.0535	12.1498	0.54044	0.171:0.829:0.0:0.0	.	1147	Q92610	ZN592_HUMAN	E	1147	ENSP00000299927:Q1147E	ENSP00000299927:Q1147E	Q	+	1	0	ZNF592	83146263	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	3.550000	0.53691	2.648000	0.89879	0.655000	0.94253	CAG	ZNF592	-	NULL	ENSG00000166716		0.542	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	-	0	87	0	C	NM_014630		85345259	1	tier1	-	no_errors	ENST00000299927	ensembl	human	known	74_37	missense	67.31	16	35	SNP	0.953	G	G	85345259	C	G	85345259	3	3	111	1	0	0	0	0	1	0	0	0	18070	595	21	5	3469	5	ZNF592	15	85345259	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	4109849	85345259	17186133	142	30238											
AXIN1	8312	genome.wustl.edu	37	chr16	396856	396856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcgcctcggagtggccgtcGaagtctcacctttaatgcca	8	9	11	13	4	1	0	1	0	1	0	4	2	1	1	4	2	2	0	4	2	2	2	rs574168909		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:396856G>C	ENST00000262320.3	-	2	541	c.170C>G	c.(169-171)tCg>tGg	p.S57W	AXIN1_ENST00000354866.3_Missense_Mutation_p.S57W|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	57					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGTGGCCGTCGAAGTCTCACC	0.612											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													39	38	39					16																	396856		2203	4300	6503	SO:0001583	missense	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	903	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 49"	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.170C>G	16.37:g.396856G>C	ENSP00000262320:p.Ser57Trp	588	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.S57W	ENST00000262320.3	37	c.170	CCDS10405.1	16	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711791	0.48517	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.63096	-0.02;-0.01	5.34	5.34	0.76211	.	0.115297	0.64402	D	0.000010	T	0.79137	0.4395	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.80832	-0.1206	10	0.66056	D	0.02	-11.5976	18.035	0.89298	0.0:0.0:1.0:0.0	.	57;57	O15169-2;O15169	.;AXIN1_HUMAN	W	57	ENSP00000262320:S57W;ENSP00000346935:S57W	ENSP00000262320:S57W	S	-	2	0	AXIN1	336857	1.000000	0.71417	0.716000	0.30569	0.145000	0.21501	9.409000	0.97331	2.522000	0.85027	0.655000	0.94253	TCG	AXIN1	-	NULL	ENSG00000103126		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	-	0	28	0	G			396856	-1	tier1	-	no_errors	ENST00000262320	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.991	C	C	396856	G	C	396856	3	2	111	1	0	0	0	0	1	0	0	0	1237	1059	37	5	2458	5	AXIN1	16	396856	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		396856	89957897	143	30239											
SALL1	6299	genome.wustl.edu	37	chr16	51173964	51173964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgtgtcctgtagtgCattttcaaggcgctctggca	6	13	12	10	1	2	0	1	0	1	0	3	0	3	0	2	2	1	4	2	2	2	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:51173964C>A	ENST00000251020.4	-	2	2202	c.2169G>T	c.(2167-2169)atG>atT	p.M723I	SALL1_ENST00000440970.1_Missense_Mutation_p.M626I|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	723					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCTGTAGTGCATTTTCAAGG	0.512																																					GBM(103;1352 1446 1855 4775 8890)												0													62	62	62					16																	51173964		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2169G>T	16.37:g.51173964C>A	ENSP00000251020:p.Met723Ile		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M723I	ENST00000251020.4	37	c.2169	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909364	0.72868	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07327	3.2;3.2	5.3	5.3	0.74995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	N	0.11064	0.09	0.80722	D	1	P	0.42556	0.783	P	0.59948	0.866	T	0.39702	-0.9601	10	0.34782	T	0.22	.	19.0235	0.92923	0.0:1.0:0.0:0.0	.	723	Q9NSC2	SALL1_HUMAN	I	723;626;687	ENSP00000251020:M723I;ENSP00000407914:M626I	ENSP00000251020:M723I	M	-	3	0	SALL1	49731465	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.490000	0.84030	0.454000	0.30748	ATG	SALL1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103449		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0	71	0	C	NM_002968		51173964	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	59.46	15	22	SNP	1.000	A	A	51173964	C	A	51173964	3	1	111	1	0	0	0	0	1	0	0	0	13855	710	25	3	1813	3	SALL1	16	51173964	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	50777108	51173964	39180789	144	30240											
TOX3	27324	genome.wustl.edu	37	chr16	52473564	52473564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgctgctgggtttgcaccGaaggactcacttgggtggag	7	10	16	8	1	1	0	1	0	0	0	1	4	1	2	1	4	3	4	1	4	1	2	rs146046759	byFrequency	TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:52473564G>A	ENST00000219746.9	-	7	1588	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	TOX3_ENST00000407228.3_Missense_Mutation_p.S430L	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	435	Gln-rich.				apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGTTTGCACCGAAGGACTCAC	0.552													G|||	8	0.00159744	8e-04	0.0029	5008	,	,		20040	0		0.005	False		,,,				2504	0																0								G	LEU/SER,LEU/SER	3,4369		0,3,2183	92	87	89		1304,1289	5.7	1	16	dbSNP_134	89	33,8559		0,33,4263	yes	missense,missense	TOX3	NM_001080430.2,NM_001146188.1	145,145	0,36,6446	AA,AG,GG		0.3841,0.0686,0.2777	probably-damaging,probably-damaging	435/577,430/572	52473564	36,12928	2186	4296	6482	SO:0001583	missense	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.1304C>T	16.37:g.52473564G>A	ENSP00000219746:p.Ser435Leu		B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S435L	ENST00000219746.9	37	c.1304	CCDS54009.1	16	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	G	14.16	2.451283	0.43531	6.86E-4	0.003841	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.10860	2.83;2.83	5.7	5.7	0.88788	.	0.249318	0.35262	N	0.003335	T	0.07728	0.0194	N	0.19112	0.55	0.49915	D	0.999832	D;D	0.63046	0.992;0.984	P;B	0.45794	0.493;0.248	T	0.23404	-1.0189	10	0.24483	T	0.36	.	19.8424	0.96695	0.0:0.0:1.0:0.0	.	430;435	B4DRD0;O15405	.;TOX3_HUMAN	L	435;430	ENSP00000219746:S435L;ENSP00000385705:S430L	ENSP00000219746:S435L	S	-	2	0	TOX3	51031065	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	9.476000	0.97823	2.673000	0.90976	0.655000	0.94253	TCG	TOX3	-	NULL	ENSG00000103460		0.552	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1		0	91	0	G	XM_049037		52473564	-1			no_errors	ENST00000219746	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A	A	52473564	G	A	52473564	3	1	111	1	0	0	0	0	1	0	0	0	16427	1059	37	1	430	1	TOX3	16	52473564	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1299600	52473564	37881189	145	30241											
HSF4	3299	genome.wustl.edu	37	chr16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggaagccagtcccTccccctaagaccccgcgcct	6	5	10	20	3	0	1	0	0	0	1	2	2	2	2	8	2	1	0	8	2	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:67203680T>C	ENST00000521374.1	+	13	1471	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P|HSF4_ENST00000264009.8_Missense_Mutation_p.S491P|NOL3_ENST00000564053.1_5'Flank|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													39	45	43					16																	67203680		1849	4065	5914	SO:0001583	missense	0			D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"cataract, Marner"	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.1471T>C	16.37:g.67203680T>C	ENSP00000430947:p.Ser491Pro	1097	Q99472|Q9ULV6	Missense_Mutation	SNP	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.S491P	ENST00000521374.1	37	c.1471	CCDS42175.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.48|15.48	2.846491|2.846491	0.51164|0.51164	.|.	.|.	ENSG00000102878|ENSG00000102878	ENST00000519601;ENST00000520304|ENST00000421453;ENST00000264009;ENST00000517685;ENST00000521374	.|.	.|.	.|.	4.63|4.63	3.45|3.45	0.39498|0.39498	.|.	.|0.435053	.|0.19894	.|N	.|0.103661	T|T	0.40040|0.40040	0.1101|0.1101	N|N	0.24115|0.24115	0.695|0.695	0.26638|0.26638	N|N	0.97234|0.97234	.|D;P	.|0.76494	.|0.999;0.895	.|D;B	.|0.68943	.|0.961;0.38	T|T	0.08848|0.08848	-1.0702|-1.0702	5|9	.|0.72032	.|D	.|0.01	-12.8056|-12.8056	7.8381|7.8381	0.29382|0.29382	0.0:0.0:0.2114:0.7886|0.0:0.0:0.2114:0.7886	.|.	.|461;491	.|Q9ULV5-2;Q9ULV5	.|.;HSF4_HUMAN	P|P	222;134|461;491;415;491	.|.	.|ENSP00000264009:S491P	L|S	+|+	2|1	0|0	HSF4|HSF4	65761181|65761181	0.215000|0.215000	0.23574|0.23574	0.982000|0.982000	0.44146|0.44146	0.184000|0.184000	0.23303|0.23303	1.280000|1.280000	0.33202|0.33202	2.063000|2.063000	0.61619|0.61619	0.460000|0.460000	0.39030|0.39030	CTC|TCC	HSF4	-	NULL	ENSG00000102878		0.662	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF4	HGNC	protein_coding	OTTHUMT00000375080.1	-	0	55	0	T	NM_001538		67203680	1	tier1	-	no_errors	ENST00000264009	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.968	C	C	67203680	T	C	67203680	3	2	111	1	0	0	0	0	1	0	0	0	7425	1551	54	4	1535	4	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	14730116	67203680	23151073	146	30242											
EDC4	23644	genome.wustl.edu	37	chr16	67911274	67911274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaggcaggcaacctgttCgtgtggcgcttggctctggt	5	11	16	9	2	1	1	0	1	1	0	2	2	1	1	1	5	1	5	1	5	1	2	rs368076076		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:67911274C>T	ENST00000358933.5	+	5	845	c.606C>T	c.(604-606)ttC>ttT	p.F202F	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	202					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.F202F(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCAACCTGTTCGTGTGGCGCT	0.587																																																	1	Substitution - coding silent(1)	lung(1)						C		0,4396		0,0,2198	119	117	117		606	-1.4	1	16		117	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	EDC4	NM_014329.3		0,2,6496	TT,TC,CC		0.0233,0.0,0.0154		202/1402	67911274	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.606C>T	16.37:g.67911274C>T			A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F202	ENST00000358933.5	37	c.606	CCDS10849.1	16																																																																																			EDC4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000038358		0.587	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	-	0	104	0	C	NM_014329		67911274	1	tier1	-	no_errors	ENST00000358933	ensembl	human	known	74_37	silent	58.90	30	43	SNP	0.992	T	T	67911274	C	T	67911274	2	4	111	1	0	0	0	0	0	0	0	1	4922	883	31	1		1	EDC4	16	67911274	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	707594	67911274	22443479	147	30243											
SLC7A6	9057	genome.wustl.edu	37	chr16	68325543	68325543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttgggggcctcaatgCatccatctttgcttcatcaa	7	14	8	12	0	4	0	3	0	1	0	5	0	5	0	2	2	3	3	2	2	2	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:68325543C>A	ENST00000566454.1	+	8	1270	c.1001C>A	c.(1000-1002)gCa>gAa	p.A334E	SLC7A6_ENST00000219343.6_Missense_Mutation_p.A334E	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GGCCTCAATGCATCCATCTTT	0.493																																																	0													304	256	272					16																	68325543		2198	4300	6498	SO:0001583	missense	0			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"Solute carriers"	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.1001C>A	16.37:g.68325543C>A	ENSP00000455064:p.Ala334Glu			Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.A334E	ENST00000566454.1	37	c.1001	CCDS32470.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.145202	0.94603	.	.	ENSG00000103064	ENST00000219343	D	0.90563	-2.69	5.09	5.09	0.68999	Amino acid permease domain (1);	0.104843	0.64402	D	0.000004	D	0.94601	0.8260	M	0.78456	2.415	0.80722	D	1	D	0.57571	0.98	P	0.62184	0.899	D	0.95150	0.8272	10	0.87932	D	0	.	16.3364	0.83064	0.0:1.0:0.0:0.0	.	334	Q92536	YLAT2_HUMAN	E	334	ENSP00000219343:A334E	ENSP00000219343:A334E	A	+	2	0	SLC7A6	66883044	1.000000	0.71417	0.985000	0.45067	0.985000	0.73830	7.506000	0.81665	2.518000	0.84900	0.655000	0.94253	GCA	SLC7A6	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000103064		0.493	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000432466.1	-	0	135	0	C	NM_003983		68325543	1	tier1	-	no_errors	ENST00000219343	ensembl	human	known	74_37	missense	5.88	63	4	SNP	1.000	A	A	68325543	C	A	68325543	3	1	111	1	0	0	0	0	1	0	0	0	14746	710	25	3	1019	3	SLC7A6	16	68325543	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	414269	68325543	22029210	148	30244											
VAC14	55697	genome.wustl.edu	37	chr16	70796868	70796868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaatggccgtgtcactgagGtggcagtttaggacctgcac	8	9	13	11	1	1	1	1	1	0	0	1	2	1	2	3	4	1	3	3	4	2	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:70796868G>T	ENST00000261776.5	-	11	1481	c.1221C>A	c.(1219-1221)caC>caA	p.H407Q	VAC14-AS1_ENST00000562507.1_RNA|VAC14-AS1_ENST00000398177.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	407					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGTCACTGAGGTGGCAGTTTA	0.577																																																	0													126	94	105					16																	70796868		2198	4300	6498	SO:0001583	missense	0			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"Tax1 (human T-cell leukemia virus type I) binding protein 2"	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1221C>A	16.37:g.70796868G>T	ENSP00000261776:p.His407Gln		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.H407Q	ENST00000261776.5	37	c.1221	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	G	13.97	2.395571	0.42512	.	.	ENSG00000103043	ENST00000261776	T	0.66099	-0.19	5.81	3.84	0.44239	Armadillo-like helical (1);Armadillo-type fold (1);	0.041768	0.85682	D	0.000000	T	0.49047	0.1534	L	0.41492	1.28	0.80722	D	1	P	0.37663	0.604	B	0.31751	0.135	T	0.41161	-0.9524	10	0.32370	T	0.25	-28.0554	12.5796	0.56383	0.1344:0.0:0.8656:0.0	.	407	Q08AM6	VAC14_HUMAN	Q	407	ENSP00000261776:H407Q	ENSP00000261776:H407Q	H	-	3	2	VAC14	69354369	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.112000	0.64634	0.789000	0.33779	0.655000	0.94253	CAC	VAC14	-	superfamily_ARM-type_fold	ENSG00000103043		0.577	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	-	0	73	0	G	NM_018052		70796868	-1	tier1	-	no_errors	ENST00000261776	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T	T	70796868	G	T	70796868	3	4	111	1	0	0	0	0	1	0	0	0	17160	1252	44	3	1163	3	VAC14	16	70796868	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	2471325	70796868	19557885	149	30245											
ZC3H18	124245	genome.wustl.edu	37	chr16	88694049	88694049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctgagcgtgagcagcGtctcctcagtgtccagtgct	5	10	13	13	2	2	2	1	2	1	0	5	2	4	2	3	1	4	2	3	1	0	0	rs370561351		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr16:88694049G>A	ENST00000301011.5	+	14	2328	c.2128G>A	c.(2128-2130)Gtc>Atc	p.V710I	ZC3H18_ENST00000452588.2_Missense_Mutation_p.V734I	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	710	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGTGAGCAGCGTCTCCTCAGT	0.627																																					Ovarian(121;375 2276 20373 38669)												0													141	100	114					16																	88694049		2198	4300	6498	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2128G>A	16.37:g.88694049G>A	ENSP00000301011:p.Val710Ile		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.V710I	ENST00000301011.5	37	c.2128	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358674	0.61403	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.35605	1.3;1.31	4.69	4.69	0.59074	.	0.127443	0.52532	D	0.000069	T	0.57417	0.2052	M	0.61703	1.905	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.54957	-0.8215	10	0.33940	T	0.23	-25.3956	17.9725	0.89117	0.0:0.0:1.0:0.0	.	734;710	E7ERS3;Q86VM9	.;ZCH18_HUMAN	I	710;734	ENSP00000301011:V710I;ENSP00000416951:V734I	ENSP00000301011:V710I	V	+	1	0	ZC3H18	87221550	1.000000	0.71417	0.991000	0.47740	0.527000	0.34593	9.436000	0.97532	2.322000	0.78497	0.491000	0.48974	GTC	ZC3H18	-	NULL	ENSG00000158545		0.627	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0	65	0	G	NM_144604		88694049	1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	52.00	24	26	SNP	1.000	A	A	88694049	G	A	88694049	3	1	111	1	0	0	0	0	1	0	0	0	17616	1145	40	1	2178	1	ZC3H18	16	88694049	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	17897181	88694049	1660704	150	30246											
WDR81	124997	genome.wustl.edu	37	chr17	1637328	1637328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggacttcttcctgagcgGcagcaaggatcgtaccgtgc	8	8	13	12	4	1	1	0	1	1	0	3	4	2	3	2	3	4	3	2	3	2	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:1637328G>A	ENST00000409644.1	+	7	4997	c.4997G>A	c.(4996-4998)gGc>gAc	p.G1666D	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.G463D|WDR81_ENST00000545662.1_Missense_Mutation_p.G297D|WDR81_ENST00000446363.1_Missense_Mutation_p.G305D|WDR81_ENST00000309182.5_Missense_Mutation_p.G615D|WDR81_ENST00000419248.1_Missense_Mutation_p.G439D	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1666					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTCCTGAGCGGCAGCAAGGAT	0.657																																																	0													61	57	59					17																	1637328		2203	4298	6501	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"WD repeat domain containing"	26600	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 166"	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4997G>A	17.37:g.1637328G>A	ENSP00000386609:p.Gly1666Asp		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1666D	ENST00000409644.1	37	c.4997	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871018	0.72065	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.25	3.23	0.37069	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052963	0.85682	D	0.000000	D	0.84000	0.5376	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.71674	0.979;0.989;0.998;0.957	D;D;D;D	0.67900	0.954;0.937;0.937;0.925	D	0.84356	0.0535	9	.	.	.	.	9.7133	0.40258	0.0772:0.1419:0.7809:0.0	.	297;463;793;615	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	D	463;615;305;439;1666;417;297	ENSP00000391074:G463D;ENSP00000312074:G615D;ENSP00000401560:G305D;ENSP00000407845:G439D;ENSP00000386609:G1666D;ENSP00000442726:G297D	.	G	+	2	0	WDR81	1584078	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	6.532000	0.73825	0.592000	0.29728	0.557000	0.71058	GGC	WDR81	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000167716		0.657	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	-	0	54	0	G	NM_152348		1637328	1	tier1	-	no_errors	ENST00000409644	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	A	A	1637328	G	A	1637328	3	1	111	1	0	0	0	0	1	0	0	0	17379	1203	42	3	5085	3	WDR81	17	1637328	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		1637328	79557882	151	30247											
TNFSF12	8742	genome.wustl.edu	37	chr17	7452584	7452584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctgcctcggcctcctGctggccgtggtcagtttggg	1	11	15	14	2	1	0	1	0	0	0	3	0	2	0	5	5	2	2	5	5	0	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:7452584G>A	ENST00000293825.6	+	1	377	c.114G>A	c.(112-114)ctG>ctA	p.L38L	TNFSF12_ENST00000557233.1_Silent_p.L38L|TNFSF12-TNFSF13_ENST00000293826.4_Silent_p.L38L	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	38					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				TCGGCCTCCTGCTGGCCGTGG	0.751																																																	0													2	2	2					17																	7452584		1485	2939	4424	SO:0001819	synonymous_variant	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"Tumor necrosis factor (ligand) superfamily"	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.114G>A	17.37:g.7452584G>A			Q8IZK7|Q8WUZ7	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	p.L38	ENST00000293825.6	37	c.114	CCDS11109.1	17																																																																																			TNFSF12-TNFSF13	-	NULL	ENSG00000248871		0.751	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226951.2		0	11	0	G	NM_003809		7452584	1			no_errors	ENST00000293826	ensembl	human	known	74_37	silent	42.86	4	3	SNP	1.000	A	A	7452584	G	A	7452584	2	1	111	1	0	0	0	0	0	0	0	1	16350	1306	46	3		3	TNFSF12	17	7452584	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	5815256	7452584	73742626	152	30248											
TP53	7157	genome.wustl.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2	rs587782144		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	GRCh37	CM994513	TP53	M							49	51	50					17																	7578457		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R158L	ENST00000269305.4	37	c.473	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	409	0	C	NM_000546		7578457	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	56.04	160	204	SNP	0.989	A	A	7578457	C	A	7578457	3	1	111	1	0	0	0	0	1	0	0	0	16429	768	27	2	825	2	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	125873	7578457	73616753	153	30249											
CCDC55	84081	genome.wustl.edu	37	chr17	28512218	28512218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagacaacaaaatgatcaGaaccgacccagtgagaaagg	19	4	10	8	1	1	4	1	2	0	3	1	7	1	4	2	1	2	0	2	1	6	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:28512218G>T	ENST00000247026.5	+	7	1266	c.1203G>T	c.(1201-1203)caG>caT	p.Q401H	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	401					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						aaaatgatcagaaccgaccca	0.373																																																	0													36	33	34					17																	28512218		2196	4290	6486	SO:0001583	missense	0			AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"coiled-coil domain containing 55"	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.1203G>T	17.37:g.28512218G>T	ENSP00000247026:p.Gln401His		Q6FI71	Missense_Mutation	SNP	pfam_DUF2040	p.Q401H	ENST00000247026.5	37	c.1203	CCDS11255.1	17	.	.	.	.	.	.	.	.	.	.	G	2.485	-0.318745	0.05386	.	.	ENSG00000126653	ENST00000247026;ENST00000540900;ENST00000394826	T	0.44482	0.92	5.98	-1.2	0.09554	.	0.838562	0.11065	N	0.603522	T	0.16685	0.0401	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16748	-1.0392	10	0.28530	T	0.3	-0.8597	1.3764	0.02221	0.147:0.1525:0.212:0.4885	.	401	Q9H0G5	NSRP1_HUMAN	H	401;332;347	ENSP00000247026:Q401H	ENSP00000247026:Q401H	Q	+	3	2	NSRP1	25536344	0.003000	0.15002	0.003000	0.11579	0.637000	0.38172	-0.217000	0.09253	-0.121000	0.11787	-0.280000	0.10049	CAG	NSRP1	-	NULL	ENSG00000126653		0.373	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSRP1	HGNC	protein_coding	OTTHUMT00000256121.2	-	0	18	0	G	NM_032141		28512218	1	tier1	-	no_errors	ENST00000247026	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.000	T	T	28512218	G	T	28512218	3	4	111	1	0	0	0	0	1	0	0	0	2832	933	33	3	1229	3	CCDC55	17	28512218	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	20933761	28512218	52682992	154	30250											
GPR179	440435	genome.wustl.edu	37	chr17	36483731	36483731	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttctctgttgcttccaaGgaatgtccctctgccacttc	5	14	6	16	0	2	0	0	0	2	0	6	1	4	1	4	1	2	2	4	1	2	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:36483731G>T	ENST00000342292.4	-	11	5741	c.5721C>A	c.(5719-5721)tcC>tcA	p.S1907S	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1907					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGCTTCCAAGGAATGTCCCT	0.522																																																	0													83	81	82					17																	36483731		1927	4148	6075	SO:0001819	synonymous_variant	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"GPCR / Class C : Orphans"	31371	protein-coding gene	gene with protein product		614515	"GPR158-like 1", "GPR179"	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5721C>A	17.37:g.36483731G>T				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C	p.S1907	ENST00000342292.4	37	c.5721	CCDS42308.1	17																																																																																			GPR179	-	NULL	ENSG00000188888		0.522	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	-	0	93	0	G			36483731	-1	tier1	-	no_errors	ENST00000342292	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.016	T	T	36483731	G	T	36483731	2	4	111	1	0	0	0	0	0	0	0	1	6700	987	35	3		3	GPR179	17	36483731	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	7971513	36483731	44711479	155	30251											
C17orf37	84299	genome.wustl.edu	37	chr17	37886006	37886006	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccatttatctctatctCaaaggcacctggtaagaaat	12	13	6	10	0	2	1	1	0	2	1	5	1	3	1	2	2	0	2	2	2	5	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:37886006C>A	ENST00000394231.3	-	3	487	c.196G>T	c.(196-198)Gag>Tag	p.E66*	MIEN1_ENST00000577810.1_Nonsense_Mutation_p.E66*|ERBB2_ENST00000584888.1_Intron|MIEN1_ENST00000474210.1_5'UTR			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	66					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										ATCTCTATCTCAAAGGCACCT	0.488																																																	0													111	112	112					17																	37886006		2203	4300	6503	SO:0001587	stop_gained	0			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"chromosome 17 open reading frame 37"	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.196G>T	17.37:g.37886006C>A	ENSP00000377778:p.Glu66*			Nonsense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.E66*	ENST00000394231.3	37	c.196	CCDS11344.1	17	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640965	0.87859	.	.	ENSG00000141741	ENST00000394231	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-11.3085	18.8259	0.92119	0.0:1.0:0.0:0.0	.	.	.	.	X	66	.	ENSP00000377778:E66X	E	-	1	0	C17orf37	35139532	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.923000	0.56469	2.746000	0.94184	0.591000	0.81541	GAG	MIEN1	-	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	ENSG00000141741		0.488	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEN1	HGNC	protein_coding	OTTHUMT00000257020.3		0	25	0	C	NM_032339		37886006	-1			no_errors	ENST00000394231	ensembl	human	known	74_37	nonsense	11.76	15	2	SNP	1.000	A	A	37886006	C	A	37886006	4	1	111	1	0	0	0	0	0	1	0	0	1860	835	29	3	159	3	C17orf37	17	37886006	Nonsense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	1402275	37886006	43309204	156	30252											
AOC3	8639	genome.wustl.edu	37	chr17	41004906	41004906	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtgtcagagcacaccCtgggcacggtccacacccac	11	4	9	17	1	1	1	1	0	0	1	2	1	2	1	4	2	1	2	4	2	1	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:41004906C>G	ENST00000308423.2	+	1	1706	c.1546C>G	c.(1546-1548)Ctg>Gtg	p.L516V	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	516					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGAGCACACCCTGGGCACGGT	0.542																																					NSCLC(3;192 220 10664 11501 16477)												0													72	63	66					17																	41004906		2203	4300	6503	SO:0001583	missense	0			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"vascular adhesion protein 1"	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1546C>G	17.37:g.41004906C>G	ENSP00000312326:p.Leu516Val		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L516V	ENST00000308423.2	37	c.1546	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518964	0.44866	.	.	ENSG00000131471	ENST00000308423	T	0.04015	3.73	5.26	4.29	0.51040	Copper amine oxidase, C-terminal (3);	0.000000	0.64402	D	0.000003	T	0.18923	0.0454	M	0.75150	2.29	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.02378	-1.1168	10	0.27785	T	0.31	.	13.9543	0.64137	0.0:0.9267:0.0:0.0733	.	516	Q16853	AOC3_HUMAN	V	516	ENSP00000312326:L516V	ENSP00000312326:L516V	L	+	1	2	AOC3	38258432	0.984000	0.35163	0.995000	0.50966	0.132000	0.20833	2.674000	0.46867	1.372000	0.46190	0.655000	0.94253	CTG	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C	ENSG00000131471		0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	-	0	42	0	C	NM_003734		41004906	1	tier1	-	no_errors	ENST00000308423	ensembl	human	known	74_37	missense	66.67	6	12	SNP	1.000	G	G	41004906	C	G	41004906	3	3	111	1	0	0	0	0	1	0	0	0	728	680	24	5	1548	5	AOC3	17	41004906	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	3118900	41004906	40190304	157	30253											
CA10	56934	genome.wustl.edu	37	chr17	49825063	49825063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcactcccaaagtgtagtCggatctcctccagccggtgg	7	9	10	15	2	2	0	1	0	1	0	6	1	4	1	5	3	1	1	5	3	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:49825063C>T	ENST00000285273.4	-	5	1506	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	CA10_ENST00000442502.2_Missense_Mutation_p.R132Q|CA10_ENST00000340813.6_Missense_Mutation_p.R138Q|CA10_ENST00000451037.2_Missense_Mutation_p.R132Q|CA10_ENST00000570565.1_Missense_Mutation_p.R57Q|CA10_ENST00000571918.1_5'UTR	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	132					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AAAGTGTAGTCGGATCTCCTC	0.532																																																	0													160	144	149					17																	49825063		2203	4300	6503	SO:0001583	missense	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"Carbonic anhydrases"	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.395G>A	17.37:g.49825063C>T	ENSP00000285273:p.Arg132Gln		B2R7J0|B4DGL6	Missense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R138Q	ENST00000285273.4	37	c.413	CCDS32684.1	17	.	.	.	.	.	.	.	.	.	.	c	28.5	4.928911	0.92389	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.72	5.72	0.89469	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.77798	0.4184	L	0.35593	1.075	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.905	D;D;P	0.75020	0.985;0.985;0.455	T	0.74293	-0.3712	9	.	.	.	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	132;138;57	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	Q	132;132;132;138	ENSP00000390666:R132Q;ENSP00000285273:R132Q;ENSP00000405388:R132Q;ENSP00000340363:R138Q	.	R	-	2	0	CA10	47180062	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.745000	0.85046	2.865000	0.98341	0.655000	0.94253	CGA	CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000154975		0.532	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1	-	0	97	0	C	NM_020178		49825063	-1	tier1	-	no_errors	ENST00000340813	ensembl	human	known	74_37	missense	13.56	51	8	SNP	1.000	T	T	49825063	C	T	49825063	3	4	111	1	0	0	0	0	1	0	0	0	2518	884	31	1	615	1	CA10	17	49825063	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	8820157	49825063	31370147	158	30254											
LRRC37A3	374819	genome.wustl.edu	37	chr17	62892916	62892916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggctccaacgctgagctgGatctttcttcagcttcttgg	7	13	10	11	1	4	1	1	1	3	0	5	2	5	2	1	3	3	4	1	3	2	4			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:62892916G>T	ENST00000584306.1	-	3	990	c.460C>A	c.(460-462)Cca>Aca	p.P154T	RP11-927P21.2_ENST00000581622.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.P154T|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000577487.1_5'Flank|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	154						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CGCTGAGCTGGATCTTTCTTC	0.468																																																	0													51	91	78					17																	62892916		1666	3512	5178	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.460C>A	17.37:g.62892916G>T	ENSP00000464535:p.Pro154Thr		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P154T	ENST00000584306.1	37	c.460	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	3.696	-0.062532	0.07273	.	.	ENSG00000176809	ENST00000319651	T	0.57907	0.37	1.87	0.79	0.18613	.	.	.	.	.	T	0.23965	0.0580	N	0.08118	0	0.09310	N	1	B	0.22276	0.067	B	0.21360	0.034	T	0.25363	-1.0134	9	0.06757	T	0.87	.	5.3127	0.15839	0.0:0.0:0.6635:0.3365	.	154	O60309	L37A3_HUMAN	T	154	ENSP00000325713:P154T	ENSP00000325713:P154T	P	-	1	0	LRRC37A3	60323378	0.002000	0.14202	0.001000	0.08648	0.040000	0.13550	0.300000	0.19156	0.307000	0.22880	0.162000	0.16502	CCA	LRRC37A3	-	NULL	ENSG00000176809		0.468	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	-	0	67	0	G	NM_199340		62892916	-1	tier1	-	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	40.30	40	27	SNP	0.001	T	T	62892916	G	T	62892916	3	4	111	1	0	0	0	0	1	0	0	0	9028	1174	41	3	4492	3	LRRC37A3	17	62892916	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	13067853	62892916	18302294	159	30255											
C17orf58	284018	genome.wustl.edu	37	chr17	65989212	65989213	+	Frame_Shift_Ins	INS	-	-	A																															tggaggagtccagggctaacINSatgtggactcggaagaagaa																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:65989212_65989213insA	ENST00000449250.2	-	2	239_240	c.50_51insT	c.(49-51)atgfs	p.M17fs	RP11-855A2.5_ENST00000580729.1_lincRNA|C17orf58_ENST00000334461.7_Frame_Shift_Ins_p.M17fs|C17orf58_ENST00000536693.1_Frame_Shift_Ins_p.M17fs			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	17										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCAGGGCTAACATGTGGACTCG	0.554																																																	0																																										SO:0001589	frameshift_variant	0			AK026583	CCDS42375.1, CCDS45765.1	17q24.2	2012-10-11			ENSG00000186665	ENSG00000186665			27568	protein-coding gene	gene with protein product						12477932	Standard	NM_181656		Approved		uc002jgi.4	Q2M2W7	OTTHUMG00000179782	ENST00000449250.2:c.51dupT	17.37:g.65989213_65989213dupA	ENSP00000402020:p.Met17fs		A8MQV2	Frame_Shift_Ins	INS	superfamily_TIMP-like_OB-fold	p.M17fs	ENST00000449250.2	37	c.51_50	CCDS45765.1	17																																																																																			C17orf58	-	superfamily_TIMP-like_OB-fold	ENSG00000186665		0.554	C17orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf58	HGNC	protein_coding	OTTHUMT00000448104.1		0	47	0	-	NM_181656		65989213	-1	tier1		no_errors	ENST00000449250	ensembl	human	known	74_37	frame_shift_ins	68.25	20	43	INS	0.000:0.176	A	A	65989213	-	A	65989212	7	5	111	1	0	1	1	0	0	0	0	0	1872	478	17	0	375	0	C17orf58	17	65989212	Frame_Shift_Ins	INS	-	TCGA-LN-A4A1-01A-21D-A27G-09	3096296	65989212	15205998	160	30256											
ABCA9	10350	genome.wustl.edu	37	chr17	67016582	67016582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggaagcgaacttttgcTattgcacagacctgctgcct	9	13	9	10	1	0	1	0	0	0	1	0	3	0	2	2	1	6	3	2	1	4	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr17:67016582T>C	ENST00000340001.4	-	19	2758	c.2547A>G	c.(2545-2547)atA>atG	p.I849M	ABCA9_ENST00000453985.2_Missense_Mutation_p.I849M|ABCA9_ENST00000370732.2_Missense_Mutation_p.I849M|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	849					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GAACTTTTGCTATTGCACAGA	0.418																																																	0													95	93	94					17																	67016582		2203	4300	6503	SO:0001583	missense	0			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"ATP binding cassette transporters / subfamily A"	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2547A>G	17.37:g.67016582T>C	ENSP00000342216:p.Ile849Met		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I849M	ENST00000340001.4	37	c.2547	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041969	0.35989	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.78595	-1.19;-1.19	5.08	-4.55	0.03441	.	0.619375	0.14471	N	0.317557	T	0.58424	0.2121	L	0.31578	0.945	0.24301	N	0.995126	B;B	0.30914	0.3;0.106	B;B	0.37550	0.253;0.042	T	0.53136	-0.8481	10	0.13470	T	0.59	.	3.9693	0.09446	0.1134:0.4367:0.1218:0.3281	.	849;849	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	M	849;832;849;844	ENSP00000342216:I849M;ENSP00000359767:I849M	ENSP00000342216:I849M	I	-	3	3	ABCA9	64528177	0.078000	0.21339	0.812000	0.32479	0.977000	0.68977	-0.869000	0.04232	-0.476000	0.06842	-0.427000	0.05922	ATA	ABCA9	-	NULL	ENSG00000154258		0.418	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	-	0	29	0	T	NM_172386		67016582	-1	tier1	-	no_errors	ENST00000340001	ensembl	human	known	74_37	missense	56.25	7	9	SNP	0.730	C	C	67016582	T	C	67016582	3	2	111	1	0	0	0	0	1	0	0	0	39	1512	53	4	2411	4	ABCA9	17	67016582	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	1027370	67016582	14178628	161	30257											
SOCS6	9306	genome.wustl.edu	37	chr18	67993381	67993381	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgaccaacccagtgtccCggttcatgcaggtgcgctcg	7	8	12	14	3	1	1	1	1	0	0	3	2	2	1	3	2	3	3	3	2	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr18:67993381C>A	ENST00000397942.3	+	2	1793	c.1477C>A	c.(1477-1479)Cgg>Agg	p.R493R	SOCS6_ENST00000582322.1_Silent_p.R493R	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	493	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCCAGTGTCCCGGTTCATGCA	0.463																																					Melanoma(84;1024 1361 24382 36583 42651)												0													103	91	95					18																	67993381		2203	4300	6503	SO:0001819	synonymous_variant	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"Suppressors of cytokine signaling", "SH2 domain containing"	16833	protein-coding gene	gene with protein product		605118	"suppressor of cytokine signaling 4"	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1477C>A	18.37:g.67993381C>A			Q8WUM3	Silent	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R493	ENST00000397942.3	37	c.1477	CCDS11998.1	18																																																																																			SOCS6	-	smart_SOCS_C,pfscan_SOCS_C	ENSG00000170677		0.463	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2		0	85	0	C			67993381	1			no_errors	ENST00000397942	ensembl	human	known	74_37	silent	5.00	37	2	SNP	0.997	A	A	67993381	C	A	67993381	2	1	111	1	0	0	0	0	0	0	0	1	14963	643	23	2		2	SOCS6	18	67993381	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09		67993381	10083867	162	30258											
PNPLA6	10908	genome.wustl.edu	37	chr19	7622121	7622121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccccgctgtgcgacccCaaggacgggcacctactcat	7	6	10	18	3	1	0	1	0	0	0	1	2	1	1	5	2	3	2	5	2	2	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:7622121C>T	ENST00000221249.6	+	30	3665	c.3234C>T	c.(3232-3234)ccC>ccT	p.P1078P	PNPLA6_ENST00000600737.1_Silent_p.P1116P|PNPLA6_ENST00000414982.3_Silent_p.P1126P|PNPLA6_ENST00000450331.3_Silent_p.P1078P|PNPLA6_ENST00000545201.2_Silent_p.P1051P	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1117	Patatin.				angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTGCGACCCCAAGGACGGGC	0.667																																																	0													56	49	51					19																	7622121		2203	4299	6502	SO:0001819	synonymous_variant	0			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"Patatin-like phospholipase domain containing"	16268	protein-coding gene	gene with protein product	"neuropathy target esterase"	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3234C>T	19.37:g.7622121C>T			A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.P1126	ENST00000221249.6	37	c.3378	CCDS32891.1	19																																																																																			PNPLA6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000032444		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	-	0	89	0	C	NM_006702		7622121	1	tier1	-	no_errors	ENST00000414982	ensembl	human	known	74_37	silent	46.25	43	37	SNP	0.844	T	T	7622121	C	T	7622121	2	4	111	1	0	0	0	0	0	0	0	1	12208	581	21	3		3	PNPLA6	19	7622121	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09		7622121	51506862	163	30259											
CLEC4G	339390	genome.wustl.edu	37	chr19	7794380	7794380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgtcattgggctctccctGgttccagtggctacaggggg	5	10	15	11	1	2	0	1	0	1	0	4	0	3	0	2	5	2	3	2	5	1	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:7794380G>T	ENST00000328853.5	-	9	822	c.754C>A	c.(754-756)Cag>Aag	p.Q252K	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	252	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GGCTCTCCCTGGTTCCAGTGG	0.607																																					Esophageal Squamous(146;540 1807 3349 19438 30853)												0													50	44	46					19																	7794380		2203	4300	6503	SO:0001583	missense	0			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"C-type lectin domain containing"	24591	protein-coding gene	gene with protein product			"C-type lectin superfamily 4, member G"			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.754C>A	19.37:g.7794380G>T	ENSP00000327599:p.Gln252Lys			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.Q252K	ENST00000328853.5	37	c.754	CCDS12185.1	19	.	.	.	.	.	.	.	.	.	.	g	3.487	-0.104601	0.06967	.	.	ENSG00000182566	ENST00000328853;ENST00000381308	T	0.16324	2.35	5.46	-10.9	0.00192	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	5.024930	0.00508	N	0.000165	T	0.06371	0.0164	N	0.25201	0.72	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37549	-0.9701	10	0.06365	T	0.9	.	0.7956	0.01065	0.2131:0.279:0.1515:0.3564	.	252	Q6UXB4	CLC4G_HUMAN	K	252;136	ENSP00000327599:Q252K	ENSP00000327599:Q252K	Q	-	1	0	CLEC4G	7700380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.173000	0.00572	-1.771000	0.01293	-0.730000	0.03578	CAG	CLEC4G	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	ENSG00000182566		0.607	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4G	HGNC	protein_coding	OTTHUMT00000461989.1	-	0	28	0	G	NM_198492		7794380	-1	tier1	-	no_errors	ENST00000328853	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.000	T	T	7794380	G	T	7794380	3	4	111	1	0	0	0	0	1	0	0	0	3524	1357	47	3	131	3	CLEC4G	19	7794380	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	172259	7794380	51334603	164	30260											
RAVER1	125950	genome.wustl.edu	37	chr19	10439506	10439506	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccagcaggtccgactTggcacgggcagccgagtcct	6	7	13	15	3	0	0	0	0	0	0	2	2	2	0	4	3	3	3	4	3	0	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:10439506T>G	ENST00000293677.6	-	3	700	c.619A>C	c.(619-621)Aag>Cag	p.K207Q		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	190	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGGTCCGACTTGGCACGGGCA	0.637																																																	0													26	32	30					19																	10439506		2144	4246	6390	SO:0001583	missense	0				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"RNA binding motif (RRM) containing"	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.619A>C	19.37:g.10439506T>G	ENSP00000293677:p.Lys207Gln		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K207Q	ENST00000293677.6	37	c.619	CCDS45960.1	19	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929483	0.73327	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.17528	2.27	5.07	3.98	0.46160	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.52364	1.645	0.42529	D	0.993039	D	0.71674	0.998	D	0.66979	0.948	T	0.01643	-1.1305	10	0.39692	T	0.17	-25.0321	8.9611	0.35847	0.166:0.0:0.0:0.834	.	207	E9PAU2	.	Q	207;190	ENSP00000293677:K207Q	ENSP00000293677:K207Q	K	-	1	0	RAVER1	10300506	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.799000	0.69101	1.911000	0.55334	0.528000	0.53228	AAG	RAVER1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000161847		0.637	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1	-	0	170	0	T	NM_133452		10439506	-1	tier1	-	no_errors	ENST00000293677	ensembl	human	known	74_37	missense	41.91	79	57	SNP	1.000	G	G	10439506	T	G	10439506	3	3	111	1	0	0	0	0	1	0	0	0	13139	1821	63	4	1695	4	RAVER1	19	10439506	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	2645126	10439506	48689477	165	30261											
PRDX2	7001	genome.wustl.edu	37	chr19	12910723	12910723	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaccagccgcagagccTcatccacggagcgtcccaca	9	4	10	18	3	1	1	1	0	0	1	3	3	3	3	6	2	3	1	6	2	0	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:12910723T>A	ENST00000301522.2	-	5	589	c.461A>T	c.(460-462)gAg>gTg	p.E154V	PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	154	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGCAGAGCCTCATCCACGGA	0.557																																																	0													128	104	112					19																	12910723		2203	4300	6503	SO:0001583	missense	0				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"thioredoxin-dependent peroxide reductase 1", "thiol-specific antioxidant 1", "natural killer-enhancing factor B", "thioredoxin peroxidase 1", "torin"	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.461A>T	19.37:g.12910723T>A	ENSP00000301522:p.Glu154Val		A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.E154V	ENST00000301522.2	37	c.461	CCDS12281.1	19	.	.	.	.	.	.	.	.	.	.	T	29.2	4.988236	0.93106	.	.	ENSG00000167815	ENST00000301522	T	0.21031	2.03	5.26	5.26	0.73747	Thioredoxin-like fold (3);	0.000000	0.64402	D	0.000004	T	0.64327	0.2588	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79815	-0.1644	10	0.87932	D	0	-17.0001	14.1386	0.65303	0.0:0.0:0.0:1.0	.	154	P32119	PRDX2_HUMAN	V	154	ENSP00000301522:E154V	ENSP00000301522:E154V	E	-	2	0	PRDX2	12771723	1.000000	0.71417	0.893000	0.35052	0.902000	0.53008	7.634000	0.83273	1.998000	0.58463	0.459000	0.35465	GAG	PRDX2	-	superfamily_Thioredoxin-like_fold	ENSG00000167815		0.557	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX2	HGNC	protein_coding	OTTHUMT00000258950.2	-	0	69	0	T	NM_005809		12910723	-1	tier1	-	no_errors	ENST00000301522	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	A	A	12910723	T	A	12910723	3	1	111	1	0	0	0	0	1	0	0	0	12507	1551	54	5	143	5	PRDX2	19	12910723	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	2471217	12910723	46218260	166	30262											
CD22	933	genome.wustl.edu	37	chr19	35827012	35827012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcactctgacctgcttGctgaatttctcctgctatgg	7	14	9	11	0	3	2	1	2	2	0	4	3	3	2	2	1	3	3	2	1	3	3	rs202213388		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:35827012G>T	ENST00000085219.5	+	4	552	c.486G>T	c.(484-486)ttG>ttT	p.L162F	CD22_ENST00000341773.6_Missense_Mutation_p.L162F|CD22_ENST00000536635.2_Missense_Mutation_p.L162F|CD22_ENST00000544992.2_Missense_Mutation_p.L162F|CD22_ENST00000270311.6_Missense_Mutation_p.L42F|CD22_ENST00000419549.2_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.L162F	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	162	Ig-like C2-type 1.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGACCTGCTTGCTGAATTTCT	0.527																																					Ovarian(42;1009 1133 23674 26041)												0													103	109	107					19																	35827012		2203	4300	6503	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	1643	protein-coding gene	gene with protein product	"sialic acid binding Ig-like lectin 2"	107266	"CD22 antigen"			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.486G>T	19.37:g.35827012G>T	ENSP00000085219:p.Leu162Phe		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L162F	ENST00000085219.5	37	c.486	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	2.162	-0.391976	0.04932	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	4.39	-0.694	0.11294	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.201130	0.01875	N	0.037518	T	0.76169	0.3950	L	0.27053	0.805	0.29437	N	0.859417	D;B;B;B	0.56521	0.976;0.307;0.16;0.021	P;B;B;B	0.58454	0.839;0.047;0.044;0.008	T	0.64166	-0.6471	10	0.48119	T	0.1	.	3.8017	0.08761	0.3472:0.2026:0.4502:0.0	.	162;162;162;162	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	F	162;162;162;162;42	ENSP00000085219:L162F;ENSP00000442279:L162F;ENSP00000339349:L162F;ENSP00000441237:L162F;ENSP00000270311:L42F	ENSP00000085219:L162F	L	+	3	2	CD22	40518852	0.000000	0.05858	0.221000	0.23827	0.734000	0.41952	-1.174000	0.03105	0.123000	0.18342	0.561000	0.74099	TTG	CD22	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000012124		0.527	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1		0	42	0	G	NM_001771		35827012	1			no_errors	ENST00000085219	ensembl	human	known	74_37	missense	9.09	20	2	SNP	0.116	T	T	35827012	G	T	35827012	3	4	111	1	0	0	0	0	1	0	0	0	2992	1310	46	3	496	3	CD22	19	35827012	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	22916289	35827012	23301971	167	30263											
GGN	199720	genome.wustl.edu	37	chr19	38876922	38876922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcttgggacgcaggcgccGagggaggaccagagcaccct	8	3	18	12	3	0	1	0	0	0	1	0	5	0	4	3	5	1	3	3	5	0	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:38876922G>A	ENST00000334928.6	-	3	1112	c.980C>T	c.(979-981)tCg>tTg	p.S327L	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA|SPRED3_ENST00000587013.1_5'Flank	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	327	Interaction with GGNBP1. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGCAGGCGCCGAGGGAGGACC	0.687																																																	0													27	31	30					19																	38876922		2200	4297	6497	SO:0001583	missense	0			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.980C>T	19.37:g.38876922G>A	ENSP00000334940:p.Ser327Leu		Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.S327L	ENST00000334928.6	37	c.980	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	G	8.740	0.918779	0.17982	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.33	3.33	0.38152	.	0.568049	0.13357	N	0.393921	T	0.48926	0.1527	L	0.27053	0.805	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.29305	-1.0016	9	0.72032	D	0.01	-11.5471	10.004	0.41946	0.0:0.0:1.0:0.0	.	244;327	Q86UU5-2;Q86UU5	.;GGN_HUMAN	L	327	.	ENSP00000334940:S327L	S	-	2	0	GGN	43568762	0.918000	0.31147	0.557000	0.28306	0.162000	0.22319	2.040000	0.41203	1.679000	0.50963	0.462000	0.41574	TCG	GGN	-	NULL	ENSG00000179168		0.687	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1		0	36	0	G	NM_152657		38876922	-1			no_errors	ENST00000334928	ensembl	human	known	74_37	missense	10.53	17	2	SNP	0.042	A	A	38876922	G	A	38876922	3	1	111	1	0	0	0	0	1	0	0	0	6384	1059	37	1	986	1	GGN	19	38876922	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	3049910	38876922	20252061	168	30264											
PRR12	57479	genome.wustl.edu	37	chr19	50128144	50128144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgcaagtggagcagagtgGggagggctctccggaagagg	9	5	20	7	1	1	2	0	0	1	2	2	5	1	5	1	6	2	4	1	6	2	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:50128144G>T	ENST00000418929.2	+	12	5777	c.5765G>T	c.(5764-5766)gGg>gTg	p.G1922V	CTB-33G10.11_ENST00000600665.1_RNA	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1101							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GAGCAGAGTGGGGAGGGCTCT	0.632																																																	0													38	41	40					19																	50128144		1996	4165	6161	SO:0001583	missense	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"KIAA1205"	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5765G>T	19.37:g.50128144G>T	ENSP00000394510:p.Gly1922Val		E9PB06|Q8N4J6	Missense_Mutation	SNP	NULL	p.G1922V	ENST00000418929.2	37	c.5765	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	G	13.36	2.214817	0.39102	.	.	ENSG00000126464	ENST00000418929;ENST00000246798	T	0.46819	0.86	4.96	2.68	0.31781	.	0.343290	0.21680	N	0.070726	T	0.31796	0.0808	N	0.12182	0.205	0.48288	D	0.999621	P	0.40931	0.733	B	0.41646	0.362	T	0.13872	-1.0493	10	0.62326	D	0.03	-20.5087	11.2456	0.48996	0.0:0.3588:0.6412:0.0	.	1922	Q9ULL5-3	.	V	1922;1102	ENSP00000394510:G1922V	ENSP00000246798:G1102V	G	+	2	0	PRR12	54819956	0.183000	0.23186	0.981000	0.43875	0.880000	0.50808	1.356000	0.34079	0.434000	0.26340	0.492000	0.49549	GGG	PRR12	-	NULL	ENSG00000126464		0.632	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	-	0	33	0	G	NM_020719		50128144	1	tier1	-	no_errors	ENST00000418929	ensembl	human	novel	74_37	missense	15.38	22	4	SNP	0.972	T	T	50128144	G	T	50128144	3	4	111	1	0	0	0	0	1	0	0	0	12626	1232	43	3	5811	3	PRR12	19	50128144	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	11251222	50128144	9000839	169	30265											
LRRC4B	94030	genome.wustl.edu	37	chr19	51022489	51022489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttccgcagccagagctcccGcagcttggacaggtactcga	8	7	12	14	3	0	1	0	0	0	1	3	3	2	2	3	2	4	6	3	2	1	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:51022489G>A	ENST00000599957.1	-	3	678	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R161W			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	161					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CAGAGCTCCCGCAGCTTGGAC	0.667																																																	0													57	62	60					19																	51022489		2202	4300	6502	SO:0001583	missense	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"Immunoglobulin superfamily / I-set domain containing", "Endogenous ligands"	25042	protein-coding gene	gene with protein product	"netrin-G3 ligand"		"leucine-rich repeats and immunoglobulin-like domains 4"	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.481C>T	19.37:g.51022489G>A	ENSP00000471502:p.Arg161Trp		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R161W	ENST00000599957.1	37	c.481	CCDS42595.1	19	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711267	0.68730	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.91577	-2.87	3.96	3.96	0.45880	.	0.000000	0.56097	U	0.000035	D	0.94656	0.8277	M	0.85299	2.745	0.49213	D	0.999766	D	0.89917	1.0	D	0.80764	0.994	D	0.94546	0.7749	10	0.87932	D	0	.	9.1887	0.37187	0.0:0.0:0.7833:0.2167	.	161	Q9NT99	LRC4B_HUMAN	W	161	ENSP00000373853:R161W	ENSP00000373853:R161W	R	-	1	2	LRRC4B	55714301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	2.235000	0.73313	0.491000	0.48974	CGG	LRRC4B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000131409		0.667	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1		0	92	0	G	NM_001080457		51022489	-1			no_errors	ENST00000389201	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A	A	51022489	G	A	51022489	3	1	111	1	0	0	0	0	1	0	0	0	9042	1086	38	1	1664	1	LRRC4B	19	51022489	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	894345	51022489	8106494	170	30266											
TFPT	29844	genome.wustl.edu	37	chr19	54617971	54617971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctgacacaaactccaCttccgtctccagctcgctct	9	9	4	19	2	2	1	0	1	2	0	6	1	4	1	5	0	2	2	5	0	1	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:54617971C>T	ENST00000391759.1	-	2	538	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	TFPT_ENST00000391758.1_Missense_Mutation_p.V36M|PRPF31_ENST00000419967.1_5'Flank|PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391757.1_Missense_Mutation_p.V45M	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	45					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					ACAAACTCCACTTCCGTCTCC	0.642			T	TCF3	pre-B ALL																																			Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0													129	138	135					19																	54617971		2203	4300	6503	SO:0001583	missense	0			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"INO80 complex subunits"	13630	protein-coding gene	gene with protein product	"amida, partner of the E2A", "INO80 complex subunit F"	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.133G>A	19.37:g.54617971C>T	ENSP00000375639:p.Val45Met			Missense_Mutation	SNP	NULL	p.V45M	ENST00000391759.1	37	c.133	CCDS12878.1	19	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524491	0.85600	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	4.99	4.99	0.66335	.	0.077947	0.49916	D	0.000130	T	0.76004	0.3927	L	0.55481	1.735	0.49389	D	0.999784	D	0.89917	1.0	D	0.91635	0.999	T	0.78231	-0.2284	9	0.72032	D	0.01	-25.4342	17.4386	0.87559	0.0:1.0:0.0:0.0	.	45	P0C1Z6	TFPT_HUMAN	M	45;36;45	.	ENSP00000375637:V45M	V	-	1	0	TFPT	59309783	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	3.676000	0.54612	2.481000	0.83766	0.514000	0.50259	GTG	TFPT	-	NULL	ENSG00000105619		0.642	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPT	HGNC	protein_coding	OTTHUMT00000141215.4	-	0	35	0	C	NM_013342		54617971	-1	tier1	-	no_errors	ENST00000391759	ensembl	human	known	74_37	missense	57.69	11	15	SNP	1.000	T	T	54617971	C	T	54617971	3	4	111	1	0	0	0	0	1	0	0	0	15857	565	20	3	648	3	TFPT	19	54617971	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	3595482	54617971	4511012	171	30267											
ZNF211	10520	genome.wustl.edu	37	chr19	58153099	58153099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctccagcctcattcaccaCcggagacttcacactggaga	11	7	8	15	1	3	2	3	0	0	2	4	4	4	2	4	2	2	1	4	2	0	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:58153099C>A	ENST00000347302.3	+	3	1424	c.1245C>A	c.(1243-1245)caC>caA	p.H415Q	ZNF211_ENST00000391703.3_Missense_Mutation_p.H354Q|ZNF211_ENST00000299871.5_Missense_Mutation_p.H480Q|ZNF211_ENST00000541801.1_Missense_Mutation_p.H406Q|ZNF211_ENST00000240731.4_Missense_Mutation_p.H428Q|ZNF211_ENST00000420680.1_Missense_Mutation_p.H419Q|ZNF211_ENST00000544273.1_Missense_Mutation_p.H427Q|ZNF211_ENST00000254182.7_Missense_Mutation_p.H406Q	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	415					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCACCACCGGAGACTTC	0.473																																																	0													66	71	69					19																	58153099		2203	4300	6503	SO:0001583	missense	0			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"Zinc fingers, C2H2-type", "-"	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1245C>A	19.37:g.58153099C>A	ENSP00000339562:p.His415Gln		B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H428Q	ENST00000347302.3	37	c.1284	CCDS12957.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	10.39|10.39	1.337064|1.337064	0.24253|0.24253	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	D;D;D;D;D;D;D;D|.	0.86865|.	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18|.	3.38|3.38	1.23|1.23	0.21249|0.21249	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.61400|0.61400	0.2344|0.2344	M|M	0.89353|0.89353	3.025|3.025	0.09310|0.09310	N|N	1|1	D;D;B;D;D;D|.	0.89917|.	0.999;0.999;0.414;1.0;1.0;1.0|.	D;D;B;D;D;D|.	0.87578|.	0.938;0.938;0.078;0.998;0.963;0.963|.	T|T	0.53961|0.53961	-0.8364|-0.8364	9|5	0.87932|.	D|.	0|.	.|.	6.6002|6.6002	0.22697|0.22697	0.0:0.6632:0.0:0.3368|0.0:0.6632:0.0:0.3368	.|.	419;427;480;406;415;428|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	Q|T	419;415;406;354;406;480;427;428|419	ENSP00000399193:H419Q;ENSP00000339562:H415Q;ENSP00000254182:H406Q;ENSP00000375584:H354Q;ENSP00000442601:H406Q;ENSP00000299871:H480Q;ENSP00000441386:H427Q;ENSP00000240731:H428Q|.	ENSP00000240731:H428Q|.	H|P	+|+	3|1	2|0	ZNF211|ZNF211	62844911|62844911	0.041000|0.041000	0.20044|0.20044	0.031000|0.031000	0.17742|0.17742	0.998000|0.998000	0.95712|0.95712	0.362000|0.362000	0.20284|0.20284	0.756000|0.756000	0.33013|0.33013	0.585000|0.585000	0.79938|0.79938	CAC|CCG	ZNF211	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121417		0.473	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	-	0	52	0	C			58153099	1	tier1	-	no_errors	ENST00000240731	ensembl	human	known	74_37	missense	69.23	8	18	SNP	0.005	A	A	58153099	C	A	58153099	3	1	111	1	0	0	0	0	1	0	0	0	17815	506	18	3	1298	3	ZNF211	19	58153099	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	3535128	58153099	975884	172	30268											
ZNF551	90233	genome.wustl.edu	37	chr19	58199504	58199504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatgagtgcagtcaatgtGggaaaccctttacccacaaa	13	10	8	10	0	1	1	1	1	0	0	1	2	1	2	2	1	3	1	2	1	5	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr19:58199504G>T	ENST00000282296.5	+	3	2046	c.1861G>T	c.(1861-1863)Ggg>Tgg	p.G621W	ZNF551_ENST00000356715.4_Missense_Mutation_p.G605W|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGTCAATGTGGGAAACCCTT	0.453																																																	0													103	103	103					19																	58199504		2203	4300	6503	SO:0001583	missense	0			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"Zinc fingers, C2H2-type", "-"	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1861G>T	19.37:g.58199504G>T	ENSP00000282296:p.Gly621Trp		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G621W	ENST00000282296.5	37	c.1861	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659897	0.47572	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.51	1.43	0.22495	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78717	0.4327	M	0.93241	3.395	0.32350	N	0.558536	D	0.89917	1.0	D	0.87578	0.998	T	0.79626	-0.1725	8	0.72032	D	0.01	.	8.4007	0.32583	0.1282:0.0:0.8718:0.0	.	621	Q7Z340	ZN551_HUMAN	W	621;605;404	.	ENSP00000282296:G605W	G	+	1	0	ZNF551	62891316	0.018000	0.18449	0.058000	0.19502	0.039000	0.13416	0.210000	0.17455	0.390000	0.25115	0.561000	0.74099	GGG	ZNF551	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204519		0.453	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2		0	53	0	G	NM_138347		58199504	1			no_errors	ENST00000282296	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T	T	58199504	G	T	58199504	3	4	111	1	0	0	0	0	1	0	0	0	18031	1348	47	3	1823	3	ZNF551	19	58199504	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	46405	58199504	929479	173	30269											
FLRT3	23767	genome.wustl.edu	37	chr20	14306311	14306311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattccattaggaggaaaTatggtgtgtattacaaactc	13	14	8	6	0	1	0	1	0	0	0	3	2	2	2	1	3	2	1	1	3	6	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:14306311T>C	ENST00000378053.3	-	2	2098	c.1842A>G	c.(1840-1842)atA>atG	p.I614M	MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.I614M	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	614					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAGGAGGAAATATGGTGTGTA	0.403																																																	0													245	215	225					20																	14306311		2203	4300	6503	SO:0001583	missense	0			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"Fibronectin type III domain containing"	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1842A>G	20.37:g.14306311T>C	ENSP00000367292:p.Ile614Met		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.I614M	ENST00000378053.3	37	c.1842	CCDS13121.1	20	.	.	.	.	.	.	.	.	.	.	T	11.79	1.742481	0.30865	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.70516	-0.49;-0.49	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.81283	0.4790	M	0.61703	1.905	0.53005	D	0.999961	D	0.89917	1.0	D	0.77557	0.99	T	0.82961	-0.0197	10	0.87932	D	0	-16.1162	12.2619	0.54655	0.1341:0.0:0.0:0.8659	.	614	Q9NZU0	FLRT3_HUMAN	M	614	ENSP00000367292:I614M;ENSP00000339912:I614M	ENSP00000339912:I614M	I	-	3	3	FLRT3	14254311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.409000	0.34680	2.320000	0.78422	0.528000	0.53228	ATA	FLRT3	-	NULL	ENSG00000125848		0.403	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT3	HGNC	protein_coding	OTTHUMT00000078075.1	-	0	99	0	T	NM_013281		14306311	-1	tier1	-	no_errors	ENST00000341420	ensembl	human	known	74_37	missense	22.67	58	17	SNP	1.000	C	C	14306311	T	C	14306311	3	2	111	1	0	0	0	0	1	0	0	0	5962	1396	49	4	111	4	FLRT3	20	14306311	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09		14306311	48719209	174	30270											
RRBP1	6238	genome.wustl.edu	37	chr20	17639256	17639256	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccaggctcacctttttTctttgaaccagacttcttct	7	17	4	13	0	4	2	1	1	3	1	4	2	4	2	3	1	2	1	3	1	2	7			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:17639256T>A	ENST00000377813.1	-	3	2200	c.1897A>T	c.(1897-1899)Aaa>Taa	p.K633*	RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K203*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K203*|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K633*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	633					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCACCTTTTTTCTTTGAACCA	0.468																																																	0													170	151	158					20																	17639256		2203	4300	6503	SO:0001587	stop_gained	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1897A>T	20.37:g.17639256T>A	ENSP00000367044:p.Lys633*		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.K633*	ENST00000377813.1	37	c.1897		20	.	.	.	.	.	.	.	.	.	.	T	40	8.382964	0.98786	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	.	.	.	5.41	5.41	0.78517	.	0.000000	0.38005	N	0.001843	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.6544	14.5893	0.68351	0.0:0.0:0.0:1.0	.	.	.	.	X	203;633;203;633	.	ENSP00000246043:K633X	K	-	1	0	RRBP1	17587256	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.039000	0.57325	2.198000	0.70561	0.482000	0.46254	AAA	RRBP1	-	NULL	ENSG00000125844		0.468	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	-	0	69	0	T	NM_001042576		17639256	-1	tier1	-	no_errors	ENST00000246043	ensembl	human	known	74_37	nonsense	48.98	25	24	SNP	1.000	A	A	17639256	T	A	17639256	4	1	111	1	0	0	0	0	0	1	0	0	13723	1792	62	5	2418	5	RRBP1	20	17639256	Nonsense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	3332945	17639256	45386264	175	30271											
MYH7B	57644	genome.wustl.edu	37	chr20	33567245	33567245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctacgtggaggccgaGgtcaagtcggaggctaccgg	8	5	17	11	5	1	0	1	0	0	0	2	4	1	2	3	6	2	1	3	6	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:33567245G>A	ENST00000262873.7	+	4	362	c.270G>A	c.(268-270)gaG>gaA	p.E90E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	48	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGGAGGCCGAGGTCAAGTCGG	0.607																																																	0													41	48	46					20																	33567245		2026	4200	6226	SO:0001819	synonymous_variant	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"Myosins / Myosin superfamily : Class II"	15906	protein-coding gene	gene with protein product		609928	"myosin, heavy polypeptide 7B, cardiac muscle, beta"			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.270G>A	20.37:g.33567245G>A			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E90	ENST00000262873.7	37	c.270	CCDS42869.1	20																																																																																			MYH7B	-	pfam_Myosin_N,superfamily_Myosin_S1_N	ENSG00000078814		0.607	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	-	0	49	0	G	NM_020884		33567245	1	tier1	-	no_errors	ENST00000262873	ensembl	human	novel	74_37	silent	22.00	39	11	SNP	0.999	A	A	33567245	G	A	33567245	2	1	111	1	0	0	0	0	0	0	0	1	10078	991	35	3		3	MYH7B	20	33567245	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	15927989	33567245	29458275	176	30272											
RPN2	6185	genome.wustl.edu	37	chr20	35827502	35827502	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctggcagctgtcagtgAggactcatctgttacccaga	8	11	11	11	0	4	2	2	1	2	1	4	3	4	3	1	2	2	4	1	2	1	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:35827502A>T	ENST00000237530.6	+	4	664	c.353A>T	c.(352-354)gAg>gTg	p.E118V	RPN2_ENST00000373622.5_Missense_Mutation_p.E86V	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	118					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GCTGTCAGTGAGGACTCATCT	0.468																																																	0													188	155	166					20																	35827502		2203	4300	6503	SO:0001583	missense	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"oligosaccharyltransferase complex subunit (non-catalytic)"	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.353A>T	20.37:g.35827502A>T	ENSP00000237530:p.Glu118Val		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Missense_Mutation	SNP	pfam_Swp1	p.E118V	ENST00000237530.6	37	c.353	CCDS13291.1	20	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570593	0.86542	.	.	ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000373632;ENST00000338768	T;T;T	0.52526	0.66;0.66;0.66	5.31	5.31	0.75309	.	0.051728	0.85682	D	0.000000	T	0.67711	0.2922	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.996;0.996	T	0.71527	-0.4566	10	0.72032	D	0.01	-12.8328	13.2663	0.60135	1.0:0.0:0.0:0.0	.	86;118;118	Q5JYR6;P04844;B2RE46	.;RPN2_HUMAN;.	V	118;86;118;118	ENSP00000237530:E118V;ENSP00000362724:E86V;ENSP00000362735:E118V	ENSP00000237530:E118V	E	+	2	0	RPN2	35260916	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.452000	0.90346	2.231000	0.72958	0.460000	0.39030	GAG	RPN2	-	pfam_Swp1	ENSG00000118705		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	-	0	52	0	A	NM_002951		35827502	1	tier1	-	no_errors	ENST00000237530	ensembl	human	known	74_37	missense	44.07	33	26	SNP	1.000	T	T	35827502	A	T	35827502	3	4	111	1	0	0	0	0	1	0	0	0	13653	304	11	5	367	5	RPN2	20	35827502	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	2260257	35827502	27198018	177	30273											
HNF4A	3172	genome.wustl.edu	37	chr20	43052981	43052981	+	Intron	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagctcacccctcagctccTtggcttccccactgtgccgc	4	10	8	19	1	2	1	2	1	0	0	4	1	4	1	6	1	3	3	6	1	0	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:43052981T>C	ENST00000316099.4	+	8	1218				HNF4A_ENST00000443598.2_Silent_p.L406L|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000609795.1_Silent_p.L384L|HNF4A_ENST00000415691.2_Intron|AL132772.1_ENST00000581483.1_RNA|HNF4A_ENST00000457232.1_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			cctcagctccttggcttcccc	0.582																																					Colon(79;2 1269 8820 14841 52347)												0													45	36	39					20																	43052981		2192	4289	6481	SO:0001627	intron_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"Nuclear hormone receptors"	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1129+87T>C	20.37:g.43052981T>C			A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_COUP_TF	p.L406	ENST00000316099.4	37	c.1216	CCDS13330.1	20																																																																																			HNF4A	-	NULL	ENSG00000101076		0.582	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	-	0	18	0	T			43052981	1	tier1	-	no_errors	ENST00000443598	ensembl	human	known	74_37	silent	33.33	8	4	SNP	0.000	C	C	43052981	T	C	43052981	1	2	111	0	1	0	0	0	0	0	0	0	7280	1606	56	4		4	HNF4A	20	43052981	Intron	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	7225479	43052981	19972539	178	30274											
KCNB1	3745	genome.wustl.edu	37	chr20	47991182	47991182	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtgcaagcttaaggatgcgGagaattcgcatgatgcggaa	12	8	14	7	4	0	2	0	1	0	1	1	5	0	4	0	3	4	3	0	3	4	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:47991182G>A	ENST00000371741.4	-	2	1081	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	305					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TAAGGATGCGGAGAATTCGCA	0.532																																																	0													83	76	78					20																	47991182		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.915C>T	20.37:g.47991182G>A			Q14193	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.L305	ENST00000371741.4	37	c.915	CCDS13418.1	20																																																																																			KCNB1	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000158445		0.532	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	-	0	21	0	G	NM_004975		47991182	-1	tier1	-	no_errors	ENST00000371741	ensembl	human	known	74_37	silent	28.12	23	9	SNP	0.981	A	A	47991182	G	A	47991182	2	1	111	1	0	0	0	0	0	0	0	1	8039	1161	41	3		3	KCNB1	20	47991182	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	4938201	47991182	15034338	179	30275											
TSHZ2	128553	genome.wustl.edu	37	chr20	51872057	51872057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctcgccaaccacgcccCggccctgccatgcatcaacc	7	4	7	23	4	1	0	1	0	0	0	2	0	1	0	8	1	4	1	8	1	2	0			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:51872057C>T	ENST00000371497.5	+	2	2947	c.2060C>T	c.(2059-2061)cCg>cTg	p.P687L	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P684L|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P684L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	687					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AACCACGCCCCGGCCCTGCCA	0.632																																																	0													48	44	45					20																	51872057		2203	4300	6503	SO:0001583	missense	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	13010	protein-coding gene	gene with protein product		614118	"chromosome 20 open reading frame 17", "zinc finger protein 218", "teashirt family zinc finger 2"	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2060C>T	20.37:g.51872057C>T	ENSP00000360552:p.Pro687Leu		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.P687L	ENST00000371497.5	37	c.2060	CCDS33490.1	20	.	.	.	.	.	.	.	.	.	.	C	9.015	0.983481	0.18889	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.61040	0.14;0.14	5.47	4.47	0.54385	.	1.013400	0.07882	N	0.969742	T	0.61999	0.2392	M	0.74647	2.275	0.22571	N	0.998978	B	0.28605	0.217	B	0.22152	0.038	T	0.57774	-0.7753	10	0.87932	D	0	-19.7893	15.7005	0.77538	0.0:0.8629:0.137:0.0	.	687	Q9NRE2	TSH2_HUMAN	L	687;684;213	ENSP00000360552:P687L;ENSP00000333114:P684L	ENSP00000333114:P684L	P	+	2	0	TSHZ2	51305464	0.222000	0.23652	0.103000	0.21229	0.178000	0.23041	3.583000	0.53928	2.558000	0.86282	0.643000	0.83706	CCG	TSHZ2	-	NULL	ENSG00000182463		0.632	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6		0	18	0	C	NM_173485		51872057	1			no_errors	ENST00000371497	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.236	T	T	51872057	C	T	51872057	3	4	111	1	0	0	0	0	1	0	0	0	16672	652	23	1	2066	1	TSHZ2	20	51872057	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	3880875	51872057	11153463	180	30276											
CDH4	1002	genome.wustl.edu	37	chr20	60498649	60498649	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacatcaacgaggctccCtacttcccctcaaaccacaa	13	7	5	16	1	2	0	2	0	0	0	4	2	4	1	4	2	3	1	4	2	4	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:60498649C>A	ENST00000360469.5	+	10	1603	c.1515C>A	c.(1513-1515)ccC>ccA	p.P505P	CDH4_ENST00000543233.1_Silent_p.P431P	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	505	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACGAGGCTCCCTACTTCCCCT	0.622																																																	0													81	70	74					20																	60498649		2203	4300	6503	SO:0001819	synonymous_variant	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1515C>A	20.37:g.60498649C>A			B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.P505	ENST00000360469.5	37	c.1515	CCDS13488.1	20																																																																																			CDH4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000179242		0.622	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	-	0	37	0	C	NM_001794		60498649	1	tier1	-	no_errors	ENST00000360469	ensembl	human	known	74_37	silent	14.29	30	5	SNP	0.997	A	A	60498649	C	A	60498649	2	1	111	1	0	0	0	0	0	0	0	1	3119	668	24	3		3	CDH4	20	60498649	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	8626592	60498649	2526871	181	30277											
PRIC285	85441	genome.wustl.edu	37	chr20	62196935	62196935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcaccttctggctctcGtccagaagctcccgtaggat	8	10	8	15	2	3	1	1	0	2	1	6	2	5	2	4	2	1	3	4	2	2	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr20:62196935G>A	ENST00000467148.1	-	8	3309	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	HELZ2_ENST00000427522.2_Silent_p.D511D	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1080					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCTGGCTCTCGTCCAGAAGCT	0.672																																																	0													33	26	28					20																	62196935		2196	4294	6490	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"peroxisomal proliferator activated receptor A interacting complex 285", "PPARG-DBD-interacting protein 1"	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3240C>T	20.37:g.62196935G>A			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	superfamily_P-loop_NTPase	p.D1080	ENST00000467148.1	37	c.3240	CCDS33508.1	20																																																																																			HELZ2	-	NULL	ENSG00000130589		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0	15	0	G	NM_001037335		62196935	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.799	A	A	62196935	G	A	62196935	2	1	111	1	0	0	0	0	0	0	0	1	12527	1136	40	1		1	PRIC285	20	62196935	Silent	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	1698286	62196935	828585	182	30278											
NCAM2	4685	genome.wustl.edu	37	chr21	22841014	22841014	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatccatacatggacaGccaagcagtggaaagagctt	13	7	9	12	0	0	1	0	0	0	1	2	3	2	3	4	2	4	2	4	2	3	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr21:22841014G>T	ENST00000400546.1	+	14	2055	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H	NCAM2_ENST00000284894.7_Missense_Mutation_p.Q460H	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	602	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q602H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACATGGACAGCCAAGCAGTG	0.378																																																	1	Substitution - Missense(1)	lung(1)											109	103	105					21																	22841014		1887	4106	5993	SO:0001583	missense	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1806G>T	21.37:g.22841014G>T	ENSP00000383392:p.Gln602His		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.Q602H	ENST00000400546.1	37	c.1806	CCDS42910.1	21	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628604	0.67015	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.57107	0.42;0.42	5.75	4.87	0.63330	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.40543	1.245	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.81914	0.995;0.995	T	0.60541	-0.7243	10	0.51188	T	0.08	-9.7952	7.8299	0.29336	0.2392:0.0:0.7608:0.0	.	460;602	B7Z5K2;O15394	.;NCAM2_HUMAN	H	602;460	ENSP00000383392:Q602H;ENSP00000284894:Q460H	ENSP00000284894:Q460H	Q	+	3	2	NCAM2	21762885	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.572000	0.36461	1.440000	0.47531	0.655000	0.94253	CAG	NCAM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000154654		0.378	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1		0	28	0	G	NM_004540		22841014	1			no_errors	ENST00000400546	ensembl	human	known	74_37	missense	5.41	34	2	SNP	1.000	T	T	22841014	G	T	22841014	3	4	111	1	0	0	0	0	1	0	0	0	10242	962	34	3	1860	3	NCAM2	21	22841014	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		22841014	25288881	183	30279											
GGT5	2687	genome.wustl.edu	37	chr22	24627486	24627486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggccaggtcctgcagcGtcagctggctccctgggatg	5	9	14	13	1	1	0	1	0	0	0	3	1	3	1	3	4	3	3	3	4	0	1			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr22:24627486G>T	ENST00000327365.4	-	6	1183	c.767C>A	c.(766-768)aCg>aAg	p.T256K	GGT5_ENST00000398292.3_Missense_Mutation_p.T256K|GGT5_ENST00000263112.7_Missense_Mutation_p.T224K|GGT5_ENST00000418439.2_Missense_Mutation_p.T179K	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	256					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GTCCTGCAGCGTCAGCTGGCT	0.622																																																	0													25	23	24					22																	24627486		2193	4296	6489	SO:0001583	missense	0			M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"Gamma-glutamyltransferases"	4260	protein-coding gene	gene with protein product		137168	"gamma-glutamyltransferase-like activity 1"	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.767C>A	22.37:g.24627486G>T	ENSP00000330080:p.Thr256Lys		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.T256K	ENST00000327365.4	37	c.767	CCDS13825.1	22	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182869	0.78677	.	.	ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	4.91	3.82	0.43975	.	0.270011	0.37809	N	0.001935	T	0.37019	0.0988	M	0.88570	2.965	0.46874	D	0.999234	D;D;D;D;D	0.89917	1.0;0.995;0.996;0.998;0.996	D;P;D;D;D	0.87578	0.998;0.847;0.939;0.978;0.939	T	0.34179	-0.9839	10	0.59425	D	0.04	-54.9962	12.7468	0.57285	0.0:0.1668:0.8331:0.0	.	179;224;256;256;256	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.;.;.;.;GGT5_HUMAN	K	256;224;171;256;179	ENSP00000330080:T256K;ENSP00000263112:T224K;ENSP00000381340:T256K;ENSP00000392146:T179K	ENSP00000263112:T224K	T	-	2	0	GGT5	22957486	0.999000	0.42202	0.891000	0.34965	0.835000	0.47333	3.303000	0.51858	2.470000	0.83445	0.485000	0.47835	ACG	GGT5	-	pfam_GGT_peptidase,prints_GGT_peptidase	ENSG00000099998		0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GGT5	HGNC	protein_coding	OTTHUMT00000320119.1	-	0	38	0	G	NM_004121		24627486	-1	tier1	-	no_errors	ENST00000398292	ensembl	human	known	74_37	missense	27.45	37	14	SNP	0.966	T	T	24627486	G	T	24627486	3	4	111	1	0	0	0	0	1	0	0	0	6388	1145	40	2	1024	2	GGT5	22	24627486	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09		24627486	26677080	184	30280											
CRYBB1	1414	genome.wustl.edu	37	chr22	27008042	27008042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagtactcacggtcccGcggagacaatgatgctgcgc	8	6	12	15	5	1	2	1	1	0	1	2	3	2	2	2	2	3	2	2	2	2	1	rs144372140		TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr22:27008042G>A	ENST00000215939.2	-	3	423	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	98	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.A98V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TCACGGTCCCGCGGAGACAAT	0.582																																																	1	Substitution - Missense(1)	prostate(1)						G	VAL/ALA	0,4406		0,0,2203	86	78	81		293	2.6	0.4	22	dbSNP_134	81	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRYBB1	NM_001887.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	98/253	27008042	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.293C>T	22.37:g.27008042G>A	ENSP00000215939:p.Ala98Val			Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.A98V	ENST00000215939.2	37	c.293	CCDS13840.1	22	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150284	0.37923	0.0	1.16E-4	ENSG00000100122	ENST00000215939	T	0.75154	-0.91	3.7	2.64	0.31445	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.280420	0.34959	N	0.003543	T	0.55832	0.1945	N	0.14661	0.345	0.19775	N	0.999956	B	0.25955	0.138	B	0.15052	0.012	T	0.53486	-0.8432	10	0.72032	D	0.01	.	11.9302	0.52843	0.0:0.1774:0.8226:0.0	.	98	P53674	CRBB1_HUMAN	V	98	ENSP00000215939:A98V	ENSP00000215939:A98V	A	-	2	0	CRYBB1	25338042	0.881000	0.30235	0.431000	0.26735	0.619000	0.37552	2.186000	0.42593	0.703000	0.31848	0.491000	0.48974	GCG	CRYBB1	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	ENSG00000100122		0.582	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB1	HGNC	protein_coding	OTTHUMT00000320767.1	-	0	72	0	G	NM_001887		27008042	-1	tier1	rs144372140	no_errors	ENST00000215939	ensembl	human	known	74_37	missense	17.46	52	11	SNP	0.749	A	A	27008042	G	A	27008042	3	1	111	1	0	0	0	0	1	0	0	0	3917	1087	38	1	481	1	CRYBB1	22	27008042	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	2380556	27008042	24296524	185	30281											
MYH9	4627	genome.wustl.edu	37	chr22	36690174	36690174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcggccagctctgtgcgCacgcgctctccctcgttgaa	4	11	11	15	5	2	1	0	1	2	0	5	1	2	1	2	1	2	4	2	1	1	2			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr22:36690174C>T	ENST00000216181.5	-	28	4031	c.3801G>A	c.(3799-3801)gtG>gtA	p.V1267V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1267					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCTGTGCGCACGCGCTCTC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"myosin, heavy polypeptide 9, non-muscle"	yes	L	0													84	79	81					22																	36690174		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"Myosins / Myosin superfamily : Class II"	7579	protein-coding gene	gene with protein product	"nonmuscle myosin heavy chain II-A"	160775	"myosin, heavy polypeptide 9, non-muscle"	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3801G>A	22.37:g.36690174C>T			A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1267	ENST00000216181.5	37	c.3801	CCDS13927.1	22																																																																																			MYH9	-	pfam_Myosin_tail,superfamily_STAT_TF_coiled-coil	ENSG00000100345		0.662	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	-	0	25	0	C	NM_002473		36690174	-1	tier1	-	no_errors	ENST00000216181	ensembl	human	known	74_37	silent	45.83	13	11	SNP	1.000	T	T	36690174	C	T	36690174	2	4	111	1	0	0	0	0	0	0	0	1	10080	697	25	3		3	MYH9	22	36690174	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	9682132	36690174	14614392	186	30282											
CACNA1I	8911	genome.wustl.edu	37	chr22	40045758	40045760	+	In_Frame_Del	DEL	AGG	AGG	-																															agcctcctcagaactggggaAggaggaggaggaggaggagc																										TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chr22:40045758_40045760delAGG	ENST00000402142.3	+	10	1820_1822	c.1820_1822delAGG	c.(1819-1824)aaggag>aag	p.E613del	CACNA1I_ENST00000401624.1_In_Frame_Del_p.E613del|CACNA1I_ENST00000400164.3_In_Frame_Del_p.E578del|CACNA1I_ENST00000407673.1_In_Frame_Del_p.E578del|CACNA1I_ENST00000404898.1_In_Frame_Del_p.E578del|CACNA1I_ENST00000336649.4_In_Frame_Del_p.E619del	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	613	Poly-Glu.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GAACTggggaaggaggaggagga	0.709																																																	0									,	60,4048		5,50,1999					,	3.5	1			22	153,7947		7,139,3904	no	coding,coding	CACNA1I	NM_021096.3,NM_001003406.1	,	12,189,5903	A1A1,A1R,RR		1.8889,1.4606,1.7448	,	,		213,11995				SO:0001651	inframe_deletion	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1820_1822delAGG	22.37:g.40045767_40045769delAGG	ENSP00000385019:p.Glu613del		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	In_Frame_Del	DEL	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.E617in_frame_del	ENST00000402142.3	37	c.1838_1840	CCDS46710.1	22																																																																																			CACNA1I	-	NULL	ENSG00000100346		0.709	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1		0	91	0	AGG	NM_001003406		40045760	1			no_errors	ENST00000336649	ensembl	human	known	74_37	in_frame_del	6.42	102	7	DEL	1.000:1.000:1.000	0	-	40045760	AGG	-	40045758	7	5	111	1	0	1	0	1	0	0	0	0	2553	72	3	0	1858	0	CACNA1I	22	40045758	In_Frame_Del	DEL	AGG	TCGA-LN-A4A1-01A-21D-A27G-09	3355584	40045758	11258808	187	30283											
CSF2RA	1438	genome.wustl.edu	37	chrX	1409389	1409389	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgattcacttttggaCacaaagaaaataggtgagaa	15	13	8	5	0	2	3	1	2	1	2	2	5	2	4	0	2	0	0	0	2	5	6			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chrX:1409389C>G	ENST00000381524.3	+	7	819	c.633C>G	c.(631-633)gaC>gaG	p.D211E	CSF2RA_ENST00000417535.2_Missense_Mutation_p.D211E|BX649553.3_ENST00000581137.1_RNA|CSF2RA_ENST00000432318.2_Missense_Mutation_p.D211E|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.D211E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.D211E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.D211E|BX649553.4_ENST00000580687.1_RNA|CSF2RA_ENST00000501036.2_Missense_Mutation_p.D78E|CSF2RA_ENST00000355432.3_Missense_Mutation_p.D211E|CSF2RA_ENST00000381500.1_Missense_Mutation_p.D211E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.D211E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	211					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CACTTTTGGACACAAAGAAAA	0.398																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0													231	240	237					X																	1409389		2203	4296	6499	SO:0001583	missense	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"CD molecules", "Pseudoautosomal regions / PAR1"	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.633C>G	X.37:g.1409389C>G	ENSP00000370935:p.Asp211Glu		A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.D211E	ENST00000381524.3	37	c.633	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	0.468	-0.886032	0.02511	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000381507;ENST00000501036;ENST00000381524;ENST00000412290;ENST00000381509;ENST00000355805;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D;D;D	0.96200	-3.94;-3.94;-1.64;-1.64;-3.94;-1.64;-3.94;-1.64;-1.64;-3.94;-1.64	1.57	-0.761	0.11038	Interleukin-6 receptor alpha chain, binding (1);	12.080100	0.00424	U	0.000069	D	0.86201	0.5876	.	.	.	0.09310	N	1	B;B;B;P;B;B	0.36837	0.342;0.04;0.033;0.571;0.026;0.032	B;B;B;B;B;B	0.37422	0.249;0.046;0.018;0.194;0.02;0.033	T	0.82997	-0.0179	9	0.02654	T	1	.	2.6567	0.05014	0.0:0.4138:0.3444:0.2418	.	211;211;211;211;211;211	P15509-2;A7J003;P15509-3;P15509-6;P15509-5;P15509	.;.;.;.;.;CSF2R_HUMAN	E	211;211;211;211;78;211;211;211;211;211;211;211	ENSP00000370940:D211E;ENSP00000416437:D211E;ENSP00000354836:D211E;ENSP00000440491:D78E;ENSP00000370935:D211E;ENSP00000410667:D211E;ENSP00000370920:D211E;ENSP00000348058:D211E;ENSP00000347606:D211E;ENSP00000394227:D211E;ENSP00000370911:D211E	ENSP00000347606:D211E	D	+	3	2	CSF2RA	1369389	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-4.008000	0.00315	-0.066000	0.12998	0.280000	0.19369	GAC	CSF2RA	-	pfam_IL-6_rcpt_alpha-bd	ENSG00000198223		0.398	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	-	0	102	0	C			1409389	1	tier1	-	no_errors	ENST00000417535	ensembl	human	known	74_37	missense	16.47	71	14	SNP	0.000	G	G	1409389	C	G	1409389	3	3	111	1	0	0	0	0	1	0	0	0	3943	477	17	5	651	5	CSF2RA	23	1409389	Missense_Mutation	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09		1409389	153861171	188	30284											
VSIG4	11326	genome.wustl.edu	37	chrX	65259808	65259808	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagtgtccactgttaggtgCcccaggagtagcaggcccag	9	8	13	11	0	0	0	0	0	0	0	1	1	1	1	4	3	2	3	4	3	3	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chrX:65259808C>T	ENST00000374737.4	-	1	141	c.33G>A	c.(31-33)ggG>ggA	p.G11G	VSIG4_ENST00000455586.2_Silent_p.G11G|VSIG4_ENST00000412866.2_Silent_p.G11G	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	11					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGTTAGGTGCCCCAGGAGTA	0.527																																																	0													143	94	111					X																	65259808		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.33G>A	X.37:g.65259808C>T			Q6UXI4	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.G11	ENST00000374737.4	37	c.33	CCDS14383.1	X																																																																																			VSIG4	-	NULL	ENSG00000155659		0.527	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	-	0	35	0	C	NM_007268		65259808	-1	tier1	-	no_errors	ENST00000374737	ensembl	human	known	74_37	silent	79.41	7	27	SNP	0.065	T	T	65259808	C	T	65259808	2	4	111	1	0	0	0	0	0	0	0	1	17274	726	26	3		3	VSIG4	23	65259808	Silent	SNP	C	TCGA-LN-A4A1-01A-21D-A27G-09	63850419	65259808	90010752	189	30285											
KIF4A	24137	genome.wustl.edu	37	chrX	69594099	69594099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaagaaggatgccaaccaAgccaagtaagaataaagtta	20	5	9	7	0	0	2	0	0	0	2	0	3	0	3	3	1	3	3	3	1	10	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chrX:69594099A>T	ENST00000374403.3	+	16	1855	c.1773A>T	c.(1771-1773)caA>caT	p.Q591H	KIF4A_ENST00000374388.3_Missense_Mutation_p.Q591H	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	591					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ATGCCAACCAAGCCAAGTAAG	0.368																																																	0													61	54	56					X																	69594099		2203	4300	6503	SO:0001583	missense	0			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"Kinesins"	13339	protein-coding gene	gene with protein product	"chromokinesin"	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1773A>T	X.37:g.69594099A>T	ENSP00000363524:p.Gln591His		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q591H	ENST00000374403.3	37	c.1773	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	A	14.42	2.530306	0.45073	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.69306	2.3;-0.39	4.25	0.477	0.16784	.	0.000000	0.49305	D	0.000154	T	0.69333	0.3099	L	0.47190	1.495	0.51482	D	0.999926	D;B	0.89917	1.0;0.216	D;B	0.91635	0.999;0.112	T	0.64334	-0.6432	10	0.49607	T	0.09	.	4.3065	0.10949	0.4802:0.0:0.3629:0.157	.	591;591	O95239;O95239-2	KIF4A_HUMAN;.	H	591	ENSP00000363509:Q591H;ENSP00000363524:Q591H	ENSP00000363509:Q591H	Q	+	3	2	KIF4A	69510824	1.000000	0.71417	0.998000	0.56505	0.584000	0.36387	1.999000	0.40806	-0.173000	0.10761	0.425000	0.28330	CAA	KIF4A	-	NULL	ENSG00000090889		0.368	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	-	0	18	0	A	NM_012310		69594099	1	tier1	-	no_errors	ENST00000374403	ensembl	human	known	74_37	missense	61.90	8	13	SNP	0.997	T	T	69594099	A	T	69594099	3	4	111	1	0	0	0	0	1	0	0	0	8330	69	3	5	1831	5	KIF4A	23	69594099	Missense_Mutation	SNP	A	TCGA-LN-A4A1-01A-21D-A27G-09	4334291	69594099	85676461	190	30286											
SATL1	340562	genome.wustl.edu	37	chrX	84363348	84363348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgactcatgtctgggtgGcttgggacttgctggctgat	4	14	16	7	0	2	2	1	2	1	0	2	3	2	3	0	5	1	4	0	5	0	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chrX:84363348G>T	ENST00000395409.3	-	1	626	c.66C>A	c.(64-66)agC>agA	p.S22R	SATL1_ENST00000509231.1_Missense_Mutation_p.S209R|SATL1_ENST00000332921.5_Missense_Mutation_p.S22R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	22	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGTCTGGGTGGCTTGGGACTT	0.552																																																	0													224	150	175					X																	84363348		2203	4300	6503	SO:0001583	missense	0			BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.66C>A	X.37:g.84363348G>T	ENSP00000378804:p.Ser22Arg		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.S209R	ENST00000395409.3	37	c.627		X	.	.	.	.	.	.	.	.	.	.	-	2.292	-0.362317	0.05103	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.47869	0.83;0.83;0.83	3.36	-0.174	0.13319	.	.	.	.	.	T	0.31389	0.0795	L	0.42245	1.32	0.09310	N	1	B;B	0.16603	0.01;0.018	B;B	0.10450	0.002;0.005	T	0.23904	-1.0175	9	0.20046	T	0.44	.	2.5537	0.04755	0.1159:0.1575:0.501:0.2256	.	22;209	Q86VE3;E9PB72	SATL1_HUMAN;.	R	22;22;209	ENSP00000378804:S22R;ENSP00000329115:S22R;ENSP00000425421:S209R	ENSP00000329115:S22R	S	-	3	2	SATL1	84250004	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-2.477000	0.00985	-0.312000	0.08741	0.431000	0.28591	AGC	SATL1	-	NULL	ENSG00000184788		0.552	SATL1-202	KNOWN	basic|appris_principal	protein_coding	SATL1	HGNC	protein_coding		-	0	66	0	G	XM_291339		84363348	-1	tier1	-	no_errors	ENST00000509231	ensembl	human	known	74_37	missense	55.26	34	42	SNP	0.019	T	T	84363348	G	T	84363348	3	4	111	1	0	0	0	0	1	0	0	0	13900	1194	42	3	1291	3	SATL1	23	84363348	Missense_Mutation	SNP	G	TCGA-LN-A4A1-01A-21D-A27G-09	14769249	84363348	70907212	191	30287											
RGAG1	57529	genome.wustl.edu	37	chrX	109697615	109697615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtatgccactgacttccTgctgctggcccgacatttgt	6	12	10	13	1	0	1	0	1	0	0	1	2	1	1	3	1	3	4	3	1	1	3			TCGA-LN-A4A1-01A-21D-A27G-09	TCGA-LN-A4A1-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a03ef5d0-0cf8-4303-941f-4e3045612671	be17983e-aeb5-495e-a39c-6bf4aa0baf9a	g.chrX:109697615T>C	ENST00000465301.2	+	3	4016	c.3770T>C	c.(3769-3771)cTg>cCg	p.L1257P	RGAG1_ENST00000540313.1_Missense_Mutation_p.L1257P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1257										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACTGACTTCCTGCTGCTGGCC	0.502																																																	0													113	107	109					X																	109697615		2203	4300	6503	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3770T>C	X.37:g.109697615T>C	ENSP00000419786:p.Leu1257Pro		Q9P2M8	Missense_Mutation	SNP	NULL	p.L1257P	ENST00000465301.2	37	c.3770	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574883	0.45902	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.48836	0.8;0.8	4.26	4.26	0.50523	.	0.000000	0.32901	N	0.005501	T	0.48660	0.1512	N	0.19112	0.55	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.42241	-0.9463	9	.	.	.	-11.8817	8.7451	0.34580	0.0:0.0:0.0:1.0	.	1257	Q8NET4	RGAG1_HUMAN	P	1257;1257;818	ENSP00000419786:L1257P;ENSP00000441452:L1257P	.	L	+	2	0	RGAG1	109584271	0.992000	0.36948	0.955000	0.39395	0.960000	0.62799	3.093000	0.50217	1.885000	0.54596	0.486000	0.48141	CTG	RGAG1	-	NULL	ENSG00000243978		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	-	0	21	0	T	NM_020769		109697615	1	tier1	-	no_errors	ENST00000465301	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.954	C	C	109697615	T	C	109697615	3	2	111	1	0	0	0	0	1	0	0	0	13319	1580	55	4	3772	4	RGAG1	23	109697615	Missense_Mutation	SNP	T	TCGA-LN-A4A1-01A-21D-A27G-09	25334267	109697615	45572945	192	30288											
MASP2	10747	genome.wustl.edu	37	chr1	11105562	11105562	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggtcgcaggtgggCgcctctcccggggccacctg	3	7	17	14	3	1	0	0	0	1	0	3	0	1	0	4	6	0	1	4	6	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:11105562C>T	ENST00000400897.3	-	4	462	c.447G>A	c.(445-447)gcG>gcA	p.A149A	MASP2_ENST00000400898.3_Silent_p.A149A	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	149	EGF-like; calcium-binding.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CGCAGGTGGGCGCCTCTCCCG	0.672																																					GBM(35;611 746 20780 22741 36496)												0													35	36	36					1																	11105562		2202	4300	6502	SO:0001819	synonymous_variant	0			X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1"	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.447G>A	1.37:g.11105562C>T			A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Silent	SNP	pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.A149	ENST00000400897.3	37	c.447	CCDS123.1	1																																																																																			MASP2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000009724		0.672	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP2	HGNC	protein_coding	OTTHUMT00000006072.1	-	0	140	0	C	NM_006610		11105562	-1	tier1	-	no_errors	ENST00000400897	ensembl	human	known	74_37	silent	20.00	112	28	SNP	0.069	T	T	11105562	C	T	11105562	2	4	112	1	0	0	0	0	0	0	0	1	9361	755	27	1		1	MASP2	1	11105562	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		11105562	238145059	1	30289											
PLOD1	5351	genome.wustl.edu	37	chr1	12008070	12008070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggccactaaggagacCgagggattccgtcgcttcaa	10	7	13	11	4	1	1	1	0	0	1	3	4	2	2	3	4	0	1	3	4	2	3	rs11553679		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:12008070C>T	ENST00000196061.4	+	2	141	c.114C>T	c.(112-114)acC>acT	p.T38T	PLOD1_ENST00000376369.3_Silent_p.T85T|PLOD1_ENST00000485046.1_3'UTR	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	38					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CTAAGGAGACCGAGGGATTCC	0.557																																																	0													155	138	143					1																	12008070		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.114C>T	1.37:g.12008070C>T			B4DR87|Q96AV9|Q9H132	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.T85	ENST00000196061.4	37	c.255	CCDS142.1	1																																																																																			PLOD1	-	NULL	ENSG00000083444		0.557	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	-	0	106	0	C	NM_000302		12008070	1	tier1	-	no_errors	ENST00000376369	ensembl	human	known	74_37	silent	25.61	61	21	SNP	0.000	T	T	12008070	C	T	12008070	2	4	112	1	0	0	0	0	0	0	0	1	12140	639	23	1		1	PLOD1	1	12008070	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	902508	12008070	237242551	2	30290											
DDOST	1650	genome.wustl.edu	37	chr1	20987472	20987472	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggtcttgaatgtgagcTcaaagccccggtctggacaa	10	8	12	11	2	3	2	1	2	2	0	3	3	3	3	2	3	3	1	2	3	3	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:20987472T>A	ENST00000375048.3	-	2	323	c.218A>T	c.(217-219)gAg>gTg	p.E73V	DDOST_ENST00000477229.1_5'UTR|DDOST_ENST00000415136.2_Intron|DDOST_ENST00000602624.2_Missense_Mutation_p.E56V	NM_005216.4	NP_005207	P39656	OST48_HUMAN	dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)	73					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATGTGAGCTCAAAGCCCCG	0.537																																																	0													62	62	62					1																	20987472		2203	4300	6503	SO:0001583	missense	0			D29643	CCDS212.1	1p36.1	2013-03-06	2013-03-06		ENSG00000244038	ENSG00000244038	2.4.1.119		2728	protein-coding gene	gene with protein product	"oligosaccharyltransferase subunit 48"	602202	"dolichyl-diphosphooligosaccharide-protein glycosyltransferase", "dolichyl-diphosphooligosaccharide--protein glycosyltransferase"			9367678	Standard	NM_005216		Approved	OST, KIAA0115, OST48, WBP1	uc001bdo.1	P39656	OTTHUMG00000002844	ENST00000375048.3:c.218A>T	1.37:g.20987472T>A	ENSP00000364188:p.Glu73Val		B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2	Missense_Mutation	SNP	pfam_WBP1	p.E73V	ENST00000375048.3	37	c.218	CCDS212.1	1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297852	0.60086	.	.	ENSG00000244038	ENST00000375048	T	0.78595	-1.19	5.1	3.96	0.45880	.	0.109047	0.64402	N	0.000006	T	0.70902	0.3277	L	0.45470	1.425	0.80722	D	1	B;B	0.14805	0.011;0.006	B;B	0.21151	0.022;0.033	T	0.66081	-0.6012	10	0.48119	T	0.1	-11.5095	11.2798	0.49188	0.1424:0.0:0.0:0.8576	.	73;73	B4DLI2;P39656	.;OST48_HUMAN	V	73	ENSP00000364188:E73V	ENSP00000364188:E73V	E	-	2	0	DDOST	20860059	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	5.013000	0.64023	0.879000	0.35944	0.533000	0.62120	GAG	DDOST	-	pfam_WBP1	ENSG00000244038		0.537	DDOST-001	KNOWN	basic|CCDS	protein_coding	DDOST	HGNC	protein_coding	OTTHUMT00000007961.2	-	0	75	0	T	NM_005216		20987472	-1	tier1	-	no_errors	ENST00000375048	ensembl	human	known	74_37	missense	32.35	46	22	SNP	1.000	A	A	20987472	T	A	20987472	3	1	112	1	0	0	0	0	1	0	0	0	4344	1551	54	5	1192	5	DDOST	1	20987472	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	8979402	20987472	228263149	3	30291											
RAP1GAP	5909	genome.wustl.edu	37	chr1	21929326	21929326	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcacctcctgtatgttctcGatgccaatggcgctgctgcg	5	12	11	13	3	1	0	0	0	1	0	3	1	2	0	3	1	4	5	3	1	2	2	rs373868217		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:21929326G>C	ENST00000374765.4	-	19	1709	c.1509C>G	c.(1507-1509)atC>atG	p.I503M	RAP1GAP_ENST00000374761.2_Missense_Mutation_p.I534M|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.I567M|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.I588M|RAP1GAP_ENST00000542643.2_Missense_Mutation_p.I529M	NM_002885.2	NP_002876.2	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	503					GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTATGTTCTCGATGCCAATGG	0.632																																																	0													98	79	85					1																	21929326		2203	4300	6503	SO:0001583	missense	0			BC054490	CCDS218.1, CCDS53276.1, CCDS53277.1	1p36.1-p35	2009-09-14	2006-04-12	2006-04-12	ENSG00000076864	ENSG00000076864			9858	protein-coding gene	gene with protein product		600278	"RAP1, GTPase activating protein 1"	RAP1GA1		1904317	Standard	NM_001145657		Approved	KIAA0474, RAP1GAP1, RAP1GAPII	uc001bew.3	P47736	OTTHUMG00000007513	ENST00000374765.4:c.1509C>G	1.37:g.21929326G>C	ENSP00000363897:p.Ile503Met		J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51	Missense_Mutation	SNP	pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom	p.I567M	ENST00000374765.4	37	c.1701	CCDS218.1	1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160866	0.57368	.	.	ENSG00000076864	ENST00000290101;ENST00000374761;ENST00000542643;ENST00000374765;ENST00000374763;ENST00000374758	D;D;D;D	0.91351	-2.67;-2.67;-2.83;-2.66	5.08	-2.24	0.06909	.	0.187598	0.44902	D	0.000419	D	0.92179	0.7520	M	0.69823	2.125	0.44825	D	0.997833	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.995;0.999	D	0.88171	0.2864	10	0.48119	T	0.1	-25.2221	6.3093	0.21156	0.5174:0.0:0.3566:0.126	.	529;503;533;503	P47736-2;P47736;P47736-3;Q7Z5S8	.;RPGP1_HUMAN;.;.	M	567;534;529;503;533;588	ENSP00000290101:I567M;ENSP00000363893:I534M;ENSP00000441661:I529M;ENSP00000363897:I503M	ENSP00000290101:I567M	I	-	3	3	RAP1GAP	21801913	0.358000	0.24947	0.992000	0.48379	0.991000	0.79684	-0.385000	0.07379	-0.297000	0.08934	-0.258000	0.10820	ATC	RAP1GAP	-	NULL	ENSG00000076864		0.632	RAP1GAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GAP	HGNC	protein_coding	OTTHUMT00000019759.2		0	46	0	G	NM_002885		21929326	-1			no_errors	ENST00000290101	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.763	C	C	21929326	G	C	21929326	3	2	112	1	0	0	0	0	1	0	0	0	13082	1048	37	5	506	5	RAP1GAP	1	21929326	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	941854	21929326	227321295	4	30292											
GJB4	127534	genome.wustl.edu	37	chr1	35227148	35227148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgcacgtggcctaccGcgaggaacgcgagcgcaagc	9	4	15	13	6	1	0	1	0	0	0	1	3	1	1	2	3	5	2	2	3	3	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:35227148G>A	ENST00000339480.1	+	2	663	c.293G>A	c.(292-294)cGc>cAc	p.R98H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	98					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGCCTACCGCGAGGAACGC	0.637																																																	0													86	65	72					1																	35227148		2203	4300	6503	SO:0001583	missense	0				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.293G>A	1.37:g.35227148G>A	ENSP00000345868:p.Arg98His		B3KQ82	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin303	p.R98H	ENST00000339480.1	37	c.293	CCDS383.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423700	0.83559	.	.	ENSG00000189433	ENST00000339480	D	0.99129	-5.46	5.73	4.82	0.62117	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.77103	2.36	0.42241	D	0.991933	D	0.76494	0.999	P	0.57204	0.815	D	0.99100	1.0843	10	0.52906	T	0.07	.	14.3259	0.66521	0.0717:0.0:0.9283:0.0	.	98	Q9NTQ9	CXB4_HUMAN	H	98	ENSP00000345868:R98H	ENSP00000345868:R98H	R	+	2	0	GJB4	34999735	0.868000	0.29978	0.878000	0.34440	0.479000	0.33129	4.164000	0.58190	1.445000	0.47624	0.655000	0.94253	CGC	GJB4	-	pfam_Connexin_N	ENSG00000189433		0.637	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB4	HGNC	protein_coding	OTTHUMT00000011560.1		0	45	0	G	NM_153212		35227148	1			no_errors	ENST00000339480	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A	A	35227148	G	A	35227148	3	1	112	1	0	0	0	0	1	0	0	0	6436	1087	38	1	295	1	GJB4	1	35227148	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	13297822	35227148	214023473	5	30293											
KIAA0319L	79932	genome.wustl.edu	37	chr1	36020037	36020037	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgcagatgtctgccaataaTatcctgataaaatccaggaa	15	10	7	9	1	1	2	0	1	1	1	4	3	3	3	3	1	1	1	3	1	6	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:36020037T>C	ENST00000325722.3	-	2	290	c.56A>G	c.(55-57)tAt>tGt	p.Y19C		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	19						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCAATAATATCCTGATAA	0.453																																																	0													79	80	80					1																	36020037		2203	4300	6503	SO:0001583	missense	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.56A>G	1.37:g.36020037T>C	ENSP00000318406:p.Tyr19Cys		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.Y19C	ENST00000325722.3	37	c.56	CCDS390.1	1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635306	0.47049	.	.	ENSG00000142687	ENST00000325722;ENST00000426982;ENST00000440579;ENST00000373258;ENST00000469892;ENST00000494948	T;T;T;T;T	0.54479	3.12;3.11;2.54;1.21;0.57	5.68	-0.909	0.10514	.	0.480260	0.19408	N	0.115011	T	0.30759	0.0775	N	0.19112	0.55	0.26485	N	0.975033	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.12156	0.007;0.002;0.0	T	0.12293	-1.0553	10	0.45353	T	0.12	2.2886	5.9598	0.19293	0.157:0.275:0.0:0.568	.	19;19;19	B4DYG9;B1AN14;Q8IZA0	.;.;K319L_HUMAN	C	19	ENSP00000318406:Y19C;ENSP00000395883:Y19C;ENSP00000407576:Y19C;ENSP00000362355:Y19C;ENSP00000419396:Y19C	ENSP00000318406:Y19C	Y	-	2	0	KIAA0319L	35792624	0.854000	0.29725	0.995000	0.50966	0.893000	0.52053	0.060000	0.14342	-0.183000	0.10585	-1.052000	0.02337	TAT	KIAA0319L	-	NULL	ENSG00000142687		0.453	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	-	0	47	0	T	NM_024874		36020037	-1	tier1	-	no_errors	ENST00000325722	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.923	C	C	36020037	T	C	36020037	3	2	112	1	0	0	0	0	1	0	0	0	8196	1406	49	4	3173	4	KIAA0319L	1	36020037	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	792889	36020037	213230584	6	30294											
AKR1A1	10327	genome.wustl.edu	37	chr1	46035590	46035590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagagagtcccaagggatGcagggcatcctctgtacccc	10	6	13	12	0	1	1	0	0	1	1	3	4	3	3	4	3	2	3	4	3	3	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:46035590G>T	ENST00000372070.3	+	10	1687	c.940G>T	c.(940-942)Gca>Tca	p.A314S	AKR1A1_ENST00000473038.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.A314S	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	314					aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939)			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)				Doxorubicin(DB00997)	CCCAAGGGATGCAGGGCATCC	0.527											OREG0013453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													119	101	107					1																	46035590		2203	4300	6503	SO:0001583	missense	0			J04794	CCDS523.1	1p33-p32	2010-04-08			ENSG00000117448	ENSG00000117448	1.1.1.2	"Aldo-keto reductases"	380	protein-coding gene	gene with protein product	"dihydrodiol dehydrogenase 3"	103830				2498333, 10393438	Standard	NM_001202414		Approved	ALR, DD3	uc001coe.3	P14550	OTTHUMG00000007740	ENST00000372070.3:c.940G>T	1.37:g.46035590G>T	ENSP00000361140:p.Ala314Ser	936	A8KAL8|D3DQ04|Q6IAZ4	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.A314S	ENST00000372070.3	37	c.940	CCDS523.1	1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884948	0.72410	.	.	ENSG00000117448	ENST00000372070;ENST00000351829	T;T	0.32023	1.47;1.47	5.72	5.72	0.89469	NADP-dependent oxidoreductase domain (1);	0.046333	0.85682	D	0.000000	T	0.24547	0.0595	N	0.19112	0.55	0.80722	D	1	B	0.20887	0.049	B	0.22152	0.038	T	0.04128	-1.0975	10	0.23891	T	0.37	.	19.9183	0.97074	0.0:0.0:1.0:0.0	.	314	P14550	AK1A1_HUMAN	S	314	ENSP00000361140:A314S;ENSP00000312606:A314S	ENSP00000312606:A314S	A	+	1	0	AKR1A1	45808177	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.379000	0.97198	2.875000	0.98604	0.644000	0.83932	GCA	AKR1A1	-	superfamily_NADP_OxRdtase_dom	ENSG00000117448		0.527	AKR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1A1	HGNC	protein_coding	OTTHUMT00000020851.1	-	0	43	0	G	NM_006066		46035590	1	tier1	-	no_errors	ENST00000351829	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	T	T	46035590	G	T	46035590	3	4	112	1	0	0	0	0	1	0	0	0	465	1319	46	3	970	3	AKR1A1	1	46035590	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	10015553	46035590	203215031	7	30295											
ZFYVE9	9372	genome.wustl.edu	37	chr1	52810443	52810443	+	Frame_Shift_Del	DEL	T	T	-																															ttttgtttggggaacaggtgTttttcctagaaaacgatgac																										TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:52810443delT	ENST00000371591.1	+	17	4074	c.3943delT	c.(3943-3945)tttfs	p.F1316fs	ZFYVE9_ENST00000357206.2_Frame_Shift_Del_p.F1257fs|ZFYVE9_ENST00000287727.3_Frame_Shift_Del_p.F1316fs	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1316					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GGAACAGGTGTTTTTCCTAGA	0.428																																																	0													96	82	87					1																	52810443		2203	4300	6503	SO:0001589	frameshift_variant	0			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"Zinc fingers, FYVE domain containing"	6775	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 173"	603755	"MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.3943delT	1.37:g.52810443delT	ENSP00000360647:p.Phe1316fs		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Frame_Shift_Del	DEL	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.F1316fs	ENST00000371591.1	37	c.3943	CCDS563.1	1																																																																																			ZFYVE9	-	pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin	ENSG00000157077		0.428	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1		0	44	0	T	NM_007324		52810443	1	tier1		no_errors	ENST00000287727	ensembl	human	known	74_37	frame_shift_del	13.33	26	4	DEL	1.000	-	-	52810443	T	-	52810443	7	5	112	1	0	1	0	1	0	0	0	0	17719	1725	60	0	4016	0	ZFYVE9	1	52810443	Frame_Shift_Del	DEL	T	TCGA-LN-A4A2-01A-31D-A27G-09	6774853	52810443	196440178	8	30296											
C1orf163	65260	genome.wustl.edu	37	chr1	53163915	53163915	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgggtccttctcgtggtaGcagtggtagttgcactccac	5	12	12	12	2	1	0	0	0	1	0	5	0	4	0	3	3	2	5	3	3	2	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:53163915G>T	ENST00000371538.3	-	1	123	c.84C>A	c.(82-84)tgC>tgA	p.C28*	SELRC1_ENST00000486918.1_5'Flank	NM_023077.2	NP_075565.2														breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TCTCGTGGTAGCAGTGGTAGT	0.647																																																	0													81	78	79					1																	53163915		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000371538.3:c.84C>A	1.37:g.53163915G>T	ENSP00000360593:p.Cys28*			Nonsense_Mutation	SNP	pfam_Sel1-like,smart_Sel1-like	p.C28*	ENST00000371538.3	37	c.84	CCDS570.1	1	.	.	.	.	.	.	.	.	.	.	.	38	6.693050	0.97768	.	.	ENSG00000162377	ENST00000371538	.	.	.	6.04	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.5902	11.3276	0.49458	0.14:0.0:0.86:0.0	.	.	.	.	X	28	.	ENSP00000360593:C28X	C	-	3	2	SELRC1	52936503	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.722000	0.47269	1.572000	0.49736	0.561000	0.74099	TGC	SELRC1	-	NULL	ENSG00000162377		0.647	SELRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELRC1	HGNC	protein_coding	OTTHUMT00000023462.1		0	65	0	G			53163915	-1			no_errors	ENST00000371538	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T	T	53163915	G	T	53163915	4	4	112	1	0	0	0	0	0	1	0	0	2018	963	34	3	623	3	C1orf163	1	53163915	Nonsense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	353472	53163915	196086706	9	30297											
CYB5RL	606495	genome.wustl.edu	37	chr1	54640384	54640384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgagccacagaccagtgCgaatggctttctccgacagc	10	6	11	14	3	1	1	0	0	1	1	2	4	1	1	4	1	4	1	4	1	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:54640384C>T	ENST00000534324.1	-	6	855	c.856G>A	c.(856-858)Gca>Aca	p.A286T	RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Missense_Mutation_p.A218T|CYB5RL_ENST00000537208.1_Missense_Mutation_p.A218T|CYB5RL_ENST00000542737.1_Missense_Mutation_p.A286T|RP11-446E24.4_ENST00000525949.1_5'Flank|CYB5RL_ENST00000401046.3_Missense_Mutation_p.A138T|AL357673.1_ENST00000536061.1_5'Flank|CYB5RL_ENST00000419823.2_Missense_Mutation_p.A286T			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	286							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.A286T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CAGACCAGTGCGAATGGCTTT	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											39	41	40					1																	54640384		1956	4175	6131	SO:0001583	missense	0				CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.856G>A	1.37:g.54640384C>T	ENSP00000434343:p.Ala286Thr		B7ZBS4|Q8NF25	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase	p.A286T	ENST00000534324.1	37	c.856	CCDS44151.1	1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721192	0.30503	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000287899;ENST00000542737;ENST00000537208	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-1.97;-2.25;-1.97	5.14	4.22	0.49857	Oxidoreductase FAD/NAD(P)-binding (1);	0.406939	0.17610	N	0.168135	T	0.75421	0.3847	N	0.13003	0.285	0.26081	N	0.981084	B;B	0.22211	0.066;0.048	B;B	0.17098	0.013;0.017	T	0.62358	-0.6871	10	0.25751	T	0.34	-25.7752	11.1905	0.48681	0.0:0.9143:0.0:0.0857	.	286;138	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	T	286;138;286;218;286;218	ENSP00000409075:A286T;ENSP00000383825:A138T;ENSP00000434343:A286T;ENSP00000287899:A218T;ENSP00000438151:A286T;ENSP00000443797:A218T	ENSP00000287899:A218T	A	-	1	0	CYB5RL	54412972	1.000000	0.71417	0.479000	0.27329	0.534000	0.34807	3.607000	0.54102	1.369000	0.46134	0.555000	0.69702	GCA	CYB5RL	-	pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase	ENSG00000215883		0.552	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CYB5RL	HGNC	protein_coding	OTTHUMT00000388318.1	-	0	56	0	C	NM_001031672		54640384	-1	tier1	-	no_errors	ENST00000419823	ensembl	human	known	74_37	missense	24.62	49	16	SNP	0.975	T	T	54640384	C	T	54640384	3	4	112	1	0	0	0	0	1	0	0	0	4139	768	27	1	95	1	CYB5RL	1	54640384	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	1476469	54640384	194610237	10	30298											
OMA1	115209	genome.wustl.edu	37	chr1	58993006	58993006	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatggtctattaaacataTactaagaagaaatgacagaa	19	11	7	4	0	1	4	0	1	1	3	1	4	1	4	0	1	2	1	0	1	10	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:58993006T>C	ENST00000371226.3	-	7	1255	c.1142A>G	c.(1141-1143)tAt>tGt	p.Y381C	DAB1_ENST00000485760.1_5'UTR|OMA1_ENST00000358603.2_Splice_Site_p.Y381C	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	381					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					ATTAAACATATACTAAGAAGA	0.338																																																	0													87	85	86					1																	58993006		2202	4300	6502	SO:0001630	splice_region_variant	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"overlapping activity with M-AAA protease", "zinc metallopeptidase OMA1"		"OMA1 zinc metallopeptidase homolog (S. cerevisiae)"			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.1141-1A>G	1.37:g.58993006T>C			D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	pfam_Peptidase_M48	p.Y381C	ENST00000371226.3	37	c.1142	CCDS608.1	1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.122501	0.56613	.	.	ENSG00000162600	ENST00000358603;ENST00000371226	T;T	0.74106	-0.81;-0.81	5.12	-3.92	0.04155	.	0.486726	0.20693	N	0.087424	T	0.80232	0.4585	M	0.82823	2.61	0.28338	N	0.921492	D;P	0.55172	0.97;0.931	P;P	0.56474	0.799;0.77	T	0.77281	-0.2646	10	0.59425	D	0.04	-6.3578	11.4042	0.49887	0.7651:0.0681:0.0:0.1668	.	381;381	Q96E52;Q96E52-2	OMA1_HUMAN;.	C	381	ENSP00000351417:Y381C;ENSP00000360270:Y381C	ENSP00000351417:Y381C	Y	-	2	0	OMA1	58765594	1.000000	0.71417	0.890000	0.34922	0.749000	0.42624	1.604000	0.36804	-0.958000	0.03622	0.533000	0.62120	TAT	OMA1	-	pfam_Peptidase_M48	ENSG00000162600		0.338	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	-	0	58	0	T	NM_145243	Missense_Mutation	58993006	-1	tier1	-	no_errors	ENST00000371226	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.554	C	C	58993006	T	C	58993006	5	2	112	1	0	0	0	0	0	0	1	0	10903	1420	49	4	444	4	OMA1	1	58993006	Splice_Site	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	4352622	58993006	190257615	11	30299											
C1orf173	127254	genome.wustl.edu	37	chr1	75038188	75038188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagtcagttttcctcagaGatgtttttggcctctcagct	7	15	9	10	0	3	2	3	0	1	2	5	3	4	2	2	1	1	3	2	1	0	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:75038188G>C	ENST00000326665.5	-	14	3424	c.3206C>G	c.(3205-3207)tCt>tGt	p.S1069C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1069	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCCTCAGAGATGTTTTTGG	0.408																																																	0													166	174	171					1																	75038188		2203	4300	6503	SO:0001583	missense	0																														ENST00000326665.5:c.3206C>G	1.37:g.75038188G>C	ENSP00000322609:p.Ser1069Cys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.S1069C	ENST00000326665.5	37	c.3206	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424647	0.25639	.	.	ENSG00000178965	ENST00000326665	T	0.13307	2.6	4.47	2.57	0.30868	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.31351	0.32	B	0.36666	0.23	T	0.42430	-0.9452	9	0.56958	D	0.05	0.0011	8.7981	0.34892	0.0:0.3072:0.5345:0.1583	.	1069	Q5RHP9	CA173_HUMAN	C	1069	ENSP00000322609:S1069C	ENSP00000322609:S1069C	S	-	2	0	C1orf173	74810776	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.379000	0.20585	0.513000	0.28278	0.561000	0.74099	TCT	C1orf173	-	NULL	ENSG00000178965		0.408	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	-	0	107	0	G			75038188	-1	tier1	-	no_errors	ENST00000326665	ensembl	human	known	74_37	missense	21.05	75	20	SNP	0.000	C	C	75038188	G	C	75038188	3	2	112	1	0	0	0	0	1	0	0	0	2021	942	33	5	1390	5	C1orf173	1	75038188	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	16045182	75038188	174212433	12	30300											
ST6GALNAC5	81849	genome.wustl.edu	37	chr1	77510243	77510243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaggccttcatgattactCgccacaagatgctgcagttt	10	12	9	10	1	1	3	1	2	0	1	2	3	1	3	2	1	3	3	2	1	3	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:77510243C>T	ENST00000477717.1	+	3	851	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	206					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CATGATTACTCGCCACAAGAT	0.572																																																	0													122	123	123					1																	77510243		2203	4300	6503	SO:0001583	missense	0				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"Sialyltransferases"	19342	protein-coding gene	gene with protein product		610134	"sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.616C>T	1.37:g.77510243C>T	ENSP00000417583:p.Arg206Cys		B1AK82	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.R206C	ENST00000477717.1	37	c.616	CCDS673.1	1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662544	0.67700	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.29142	1.58	5.46	5.46	0.80206	.	0.105732	0.64402	D	0.000002	T	0.50480	0.1618	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.53851	-0.8380	10	0.66056	D	0.02	-25.7814	19.307	0.94167	0.0:1.0:0.0:0.0	.	206	Q9BVH7	SIA7E_HUMAN	C	206;116	ENSP00000417583:R206C	ENSP00000436263:R206C	R	+	1	0	ST6GALNAC5	77282831	0.952000	0.32445	0.999000	0.59377	0.958000	0.62258	1.989000	0.40707	2.543000	0.85770	0.655000	0.94253	CGC	ST6GALNAC5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000117069		0.572	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC5	HGNC	protein_coding	OTTHUMT00000026692.2		0	22	0	C	NM_030965		77510243	1			no_errors	ENST00000477717	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.988	T	T	77510243	C	T	77510243	3	4	112	1	0	0	0	0	1	0	0	0	15274	884	31	1	626	1	ST6GALNAC5	1	77510243	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	2472055	77510243	171740378	13	30301											
USP33	23032	genome.wustl.edu	37	chr1	78191334	78191334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtggtggtgccaatcctgGccacaaattgcctgatttag	8	12	12	9	0	0	1	0	1	0	0	1	1	1	1	4	3	2	0	4	3	3	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:78191334G>A	ENST00000370793.1	-	12	1688	c.1342C>T	c.(1342-1344)Cca>Tca	p.P448S	USP33_ENST00000370792.3_Missense_Mutation_p.P448S|USP33_ENST00000370794.3_Missense_Mutation_p.P417S|USP33_ENST00000357428.1_Missense_Mutation_p.P448S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	448	USP.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GCCAATCCTGGCCACAAATTG	0.408																																					Melanoma(152;72 1870 11110 26780 42647)												0													145	126	132					1																	78191334		2203	4300	6503	SO:0001583	missense	0			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"Ubiquitin-specific peptidases"	20059	protein-coding gene	gene with protein product		615146	"ubiquitin specific protease 33"			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.1342C>T	1.37:g.78191334G>A	ENSP00000359829:p.Pro448Ser		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.P448S	ENST00000370793.1	37	c.1342	CCDS678.1	1	.	.	.	.	.	.	.	.	.	.	G	4.324	0.059528	0.08339	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	T;T;T;T	0.08896	3.05;3.05;3.05;3.04	5.62	3.67	0.42095	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.157260	0.06077	N	0.661132	T	0.00906	0.0030	N	0.03224	-0.385	0.30680	N	0.752434	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.11329	0.001;0.004;0.006	T	0.46331	-0.9199	10	0.08599	T	0.76	.	3.0935	0.06302	0.2858:0.0:0.5166:0.1975	.	448;417;448	Q8TEY7-3;Q8TEY7-2;Q8TEY7	.;.;UBP33_HUMAN	S	417;448;448;448	ENSP00000359830:P417S;ENSP00000359829:P448S;ENSP00000350009:P448S;ENSP00000359828:P448S	ENSP00000350009:P448S	P	-	1	0	USP33	77963922	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.071000	0.30666	1.468000	0.48064	0.585000	0.79938	CCA	USP33	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000077254		0.408	USP33-002	KNOWN	basic|CCDS	protein_coding	USP33	HGNC	protein_coding	OTTHUMT00000026923.2	-	0	59	0	G	NM_015017		78191334	-1	tier1	-	no_errors	ENST00000357428	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	A	A	78191334	G	A	78191334	3	1	112	1	0	0	0	0	1	0	0	0	17113	1203	42	3	1554	3	USP33	1	78191334	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	681091	78191334	171059287	14	30302											
COL11A1	1301	genome.wustl.edu	37	chr1	103354301	103354301	+	Frame_Shift_Del	DEL	G	G	-																															tagagcctttgttaccctttGggccttgaggaccctacaaa																										TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:103354301delG	ENST00000370096.3	-	61	4844	c.4532delC	c.(4531-4533)ccafs	p.P1511fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.P1395fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.P1472fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.P1523fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1511	Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTACCCTTTGGGCCTTGAGG	0.353																																																	0													63	65	64					1																	103354301		2203	4299	6502	SO:0001589	frameshift_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"Collagens"	2186	protein-coding gene	gene with protein product	"collagen XI, alpha-1 polypeptide"	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4532delC	1.37:g.103354301delG	ENSP00000359114:p.Pro1511fs		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P1523fs	ENST00000370096.3	37	c.4568	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0	47	0	G	NM_080630		103354301	-1	tier1		no_errors	ENST00000358392	ensembl	human	known	74_37	frame_shift_del	10.34	52	6	DEL	1.000	-	-	103354301	G	-	103354301	7	5	112	1	0	1	0	1	0	0	0	0	3674	1348	47	0	916	0	COL11A1	1	103354301	Frame_Shift_Del	DEL	G	TCGA-LN-A4A2-01A-31D-A27G-09	25162967	103354301	145896320	15	30303											
GPR89A	653519	genome.wustl.edu	37	chr1	145787778	145787778	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataacatacttaccatgaaAattttccaaacacagtaaat	20	11	2	8	0	0	1	0	1	0	0	1	1	1	1	2	0	4	1	2	0	9	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:145787778A>C	ENST00000313835.9	-	10	1046	c.903T>G	c.(901-903)atT>atG	p.I301M	GPR89A_ENST00000478703.1_5'UTR|GPR89A_ENST00000534502.1_Missense_Mutation_p.I276M|GPR89A_ENST00000462900.2_Missense_Mutation_p.I276M|GPR89A_ENST00000454423.3_Missense_Mutation_p.I181M			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	301					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TTACCATGAAAATTTTCCAAA	0.313																																																	0													7	6	6					1																	145787778		1645	3603	5248	SO:0001583	missense	0			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.903T>G	1.37:g.145787778A>C	ENSP00000319673:p.Ile301Met		A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.I301M	ENST00000313835.9	37	c.903	CCDS41377.1	1	.	.	.	.	.	.	.	.	.	.	A	9.312	1.055866	0.19907	.	.	ENSG00000117262	ENST00000313835;ENST00000454423;ENST00000534502;ENST00000462900	.	.	.	4.91	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56450	-0.7977	9	0.34782	T	0.22	-21.3544	5.8317	0.18584	0.7693:0.0:0.2307:0.0	.	301;301	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	M	301;181;276;276	.	ENSP00000319673:I301M	I	-	3	3	GPR89A	144499135	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	2.376000	0.44292	0.722000	0.32252	0.172000	0.16884	ATT	GPR89A	-	pfam_ABA_GPCR_dom	ENSG00000117262		0.313	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89A	HGNC	protein_coding	OTTHUMT00000038507.2	-	0	52	0	A	NM_001097612		145787778	-1	tier1	-	no_errors	ENST00000313835	ensembl	human	known	74_37	missense	20.90	53	14	SNP	1.000	C	C	145787778	A	C	145787778	3	2	112	1	0	0	0	0	1	0	0	0	6744	10	1	4	484	4	GPR89A	1	145787778	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	42433477	145787778	103462843	16	30304											
CREB3L4	148327	genome.wustl.edu	37	chr1	153945466	153945468	+	In_Frame_Del	DEL	AAG	AAG	-																															aggcagaggagagggtcctcAagaaggtcaggaggaaaatc																										TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:153945466_153945468delAAG	ENST00000368607.3	+	6	921_923	c.655_657delAAG	c.(655-657)aagdel	p.K220del	CREB3L4_ENST00000368601.1_3'UTR|JTB_ENST00000471173.1_5'Flank|CREB3L4_ENST00000368603.1_In_Frame_Del_p.K220del|CREB3L4_ENST00000405694.3_In_Frame_Del_p.K73del|CREB3L4_ENST00000368600.3_In_Frame_Del_p.K200del|CREB3L4_ENST00000271889.4_In_Frame_Del_p.K220del|CREB3L4_ENST00000468845.1_3'UTR	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	220	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGGGTCCTCAAGAAGGTCAGGA	0.581																																																	0																																										SO:0001651	inframe_deletion	0			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"basic leucine zipper proteins"	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.655_657delAAG	1.37:g.153945469_153945471delAAG	ENSP00000357596:p.Lys220del		D3DV62|Q5T4L0|Q86YW6	In_Frame_Del	DEL	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.K220in_frame_del	ENST00000368607.3	37	c.655_657	CCDS1056.1	1																																																																																			CREB3L4	-	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000143578		0.581	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1		0	60	0	AAG	NM_130898		153945468	1	tier1		no_errors	ENST00000271889	ensembl	human	known	74_37	in_frame_del	10.64	42	5	DEL	1.000:1.000:1.000	-	-	153945468	AAG	-	153945466	7	5	112	1	0	1	0	1	0	0	0	0	3866	131	5	0	673	0	CREB3L4	1	153945466	In_Frame_Del	DEL	AAG	TCGA-LN-A4A2-01A-31D-A27G-09	8157688	153945466	95305155	17	30305											
MNDA	4332	genome.wustl.edu	37	chr1	158815756	158815756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactttacaagcaagcatCtggaacaatggtgtatgggt	13	11	10	7	0	2	0	1	0	1	0	2	1	2	1	0	3	5	3	0	3	7	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:158815756C>A	ENST00000368141.4	+	5	1211	c.950C>A	c.(949-951)tCt>tAt	p.S317Y		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	317	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGCAAGCATCTGGAACAATG	0.323																																																	0													71	75	74					1																	158815756		2203	4300	6503	SO:0001583	missense	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.950C>A	1.37:g.158815756C>A	ENSP00000357123:p.Ser317Tyr			Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.S317Y	ENST00000368141.4	37	c.950	CCDS1177.1	1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060310	0.55432	.	.	ENSG00000163563	ENST00000368141	T	0.16196	2.36	4.28	2.24	0.28232	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.504521	0.14974	N	0.287653	T	0.19644	0.0472	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.03750	-1.1007	10	0.62326	D	0.03	-0.321	4.689	0.12771	0.2143:0.6738:0.0:0.1119	.	317	P41218	MNDA_HUMAN	Y	317	ENSP00000357123:S317Y	ENSP00000357123:S317Y	S	+	2	0	MNDA	157082380	0.000000	0.05858	0.017000	0.16124	0.607000	0.37147	-0.310000	0.08135	1.132000	0.42129	0.655000	0.94253	TCT	MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x	ENSG00000163563		0.323	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	-	0	74	0	C	NM_002432		158815756	1	tier1	-	no_errors	ENST00000368141	ensembl	human	known	74_37	missense	26.85	78	29	SNP	0.002	A	A	158815756	C	A	158815756	3	1	112	1	0	0	0	0	1	0	0	0	9714	913	32	3	964	3	MNDA	1	158815756	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4870290	158815756	90434865	18	30306											
TADA1	117143	genome.wustl.edu	37	chr1	166829469	166829469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacactattcttcaggtatgGctgcggggtcacgttactgc	7	13	11	10	2	3	0	2	0	1	0	3	0	3	0	0	4	4	3	0	4	4	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:166829469G>A	ENST00000367874.4	-	6	739	c.646C>T	c.(646-648)Cca>Tca	p.P216S	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	216					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTCAGGTATGGCTGCGGGGTC	0.373																																																	0													110	101	105					1																	166829469		2203	4300	6503	SO:0001583	missense	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)"	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.646C>T	1.37:g.166829469G>A	ENSP00000356848:p.Pro216Ser		A8K4J9	Missense_Mutation	SNP	superfamily_Histone-fold	p.P216S	ENST00000367874.4	37	c.646	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689000	0.68271	.	.	ENSG00000152382	ENST00000367874	T	0.51325	0.71	5.73	5.73	0.89815	.	0.049495	0.85682	N	0.000000	T	0.27349	0.0671	L	0.39245	1.2	0.49687	D	0.999817	P	0.37330	0.59	B	0.34180	0.177	T	0.11084	-1.0602	9	0.32370	T	0.25	-8.036	17.41	0.87482	0.0:0.0:1.0:0.0	.	216	Q96BN2	TADA1_HUMAN	S	216	ENSP00000356848:P216S	ENSP00000356848:P216S	P	-	1	0	TADA1	165096093	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.091000	0.94151	2.710000	0.92621	0.650000	0.86243	CCA	TADA1	-	NULL	ENSG00000152382		0.373	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1		0	40	0	G	NM_053053		166829469	-1			no_errors	ENST00000367874	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	A	A	166829469	G	A	166829469	3	1	112	1	0	0	0	0	1	0	0	0	15556	1203	42	3	373	3	TADA1	1	166829469	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	8013713	166829469	82421152	19	30307											
TNN	63923	genome.wustl.edu	37	chr1	175066783	175066783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcccagaagggggacCgagagagcaagaaggctgac	12	3	17	9	1	1	4	0	1	1	3	1	7	1	5	2	4	1	2	2	4	3	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:175066783C>T	ENST00000239462.4	+	8	1932	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	607	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAAGGGGGACCGAGAGAGCAA	0.532																																																	0													77	71	73					1																	175066783		2203	4300	6503	SO:0001587	stop_gained	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1819C>T	1.37:g.175066783C>T	ENSP00000239462:p.Arg607*		B9EGP3|Q5R360	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R607*	ENST00000239462.4	37	c.1819	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.444221	0.98289	.	.	ENSG00000120332	ENST00000239462	.	.	.	5.63	3.67	0.42095	.	0.586078	0.16519	N	0.210872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1635	0.65461	0.2739:0.7261:0.0:0.0	.	.	.	.	X	607	.	ENSP00000239462:R607X	R	+	1	2	TNN	173333406	0.085000	0.21516	0.023000	0.16930	0.936000	0.57629	1.994000	0.40757	0.645000	0.30675	0.655000	0.94253	CGA	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.532	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	-	0	39	0	C	XM_040527		175066783	1	tier1	-	no_errors	ENST00000239462	ensembl	human	known	74_37	nonsense	11.76	45	6	SNP	0.139	T	T	175066783	C	T	175066783	4	4	112	1	0	0	0	0	0	1	0	0	16370	644	23	1	1845	1	TNN	1	175066783	Nonsense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	8237314	175066783	74183838	20	30308											
ADIPOR1	51094	genome.wustl.edu	37	chr1	202913041	202913041	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggggacaaagctccccAtaattagaagagcaatccct	14	6	9	12	0	0	2	0	0	0	2	2	3	2	3	4	2	2	2	4	2	5	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:202913041A>G	ENST00000340990.5	-	6	948	c.650T>C	c.(649-651)aTg>aCg	p.M217T	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.M217T	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	217					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AAAGCTCCCCATAATTAGAAG	0.453																																																	0													54	51	52					1																	202913041		2203	4300	6503	SO:0001583	missense	0				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.650T>C	1.37:g.202913041A>G	ENSP00000341785:p.Met217Thr		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	pfam_HlyIII-related	p.M217T	ENST00000340990.5	37	c.650	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419514	0.83559	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068	T;T;T	0.27402	1.67;1.67;1.67	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.28995	0.0720	N	0.25201	0.72	0.80722	D	1	B	0.32968	0.392	B	0.41174	0.349	T	0.08493	-1.0719	10	0.29301	T	0.29	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	217	Q96A54	ADR1_HUMAN	T	217	ENSP00000341785:M217T;ENSP00000395469:M217T;ENSP00000402178:M217T	ENSP00000341785:M217T	M	-	2	0	ADIPOR1	201179664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.324000	0.96373	2.371000	0.80710	0.533000	0.62120	ATG	ADIPOR1	-	pfam_HlyIII-related	ENSG00000159346		0.453	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR1	HGNC	protein_coding	OTTHUMT00000099160.2	-	0	31	0	A	NM_015999		202913041	-1	tier1	-	no_errors	ENST00000340990	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	G	G	202913041	A	G	202913041	3	3	112	1	0	0	0	0	1	0	0	0	318	217	8	4	489	4	ADIPOR1	1	202913041	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	27846258	202913041	46337580	21	30309											
ADIPOR1	51094	genome.wustl.edu	37	chr1	202915710	202915710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcagggagcacatcatatGggatgaccctccaacgtccc	11	7	10	13	1	2	1	2	1	0	0	4	3	4	3	3	2	2	1	3	2	2	1	rs141511034		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:202915710G>T	ENST00000340990.5	-	4	585	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P96Q|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P96Q	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	96					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|hormone-mediated signaling pathway (GO:0009755)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of cell growth (GO:0030308)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of JAK-STAT cascade (GO:0046427)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CACATCATATGGGATGACCCT	0.507																																																	0													199	149	166					1																	202915710		2203	4300	6503	SO:0001583	missense	0				CCDS1430.1	1q32.1	2012-08-22			ENSG00000159346	ENSG00000159346		"GPCR / Unclassified : Adiponectin receptors"	24040	protein-coding gene	gene with protein product		607945				12802337	Standard	XM_006711360		Approved	PAQR1, ACDCR1	uc001gyq.5	Q96A54	OTTHUMG00000041391	ENST00000340990.5:c.287C>A	1.37:g.202915710G>T	ENSP00000341785:p.Pro96Gln		B3KMB0|Q53HS7|Q53YY6|Q9Y360	Missense_Mutation	SNP	pfam_HlyIII-related	p.P96Q	ENST00000340990.5	37	c.287	CCDS1430.1	1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164070	0.57476	.	.	ENSG00000159346	ENST00000340990;ENST00000436244;ENST00000417068;ENST00000367254;ENST00000426229	D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.93631	0.7966	L	0.52011	1.625	0.80722	D	1	B	0.17268	0.021	B	0.20577	0.03	D	0.89231	0.3577	10	0.13470	T	0.59	.	14.7679	0.69654	0.0707:0.0:0.9293:0.0	.	96	Q96A54	ADR1_HUMAN	Q	96	ENSP00000341785:P96Q;ENSP00000395469:P96Q;ENSP00000402178:P96Q;ENSP00000356223:P96Q;ENSP00000392946:P96Q	ENSP00000341785:P96Q	P	-	2	0	ADIPOR1	201182333	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	7.997000	0.88414	2.941000	0.99782	0.655000	0.94253	CCA	ADIPOR1	-	NULL	ENSG00000159346		0.507	ADIPOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADIPOR1	HGNC	protein_coding	OTTHUMT00000099160.2		0	56	0	G	NM_015999		202915710	-1			no_errors	ENST00000340990	ensembl	human	known	74_37	missense	5.36	53	3	SNP	1.000	T	T	202915710	G	T	202915710	3	4	112	1	0	0	0	0	1	0	0	0	318	1348	47	3	860	3	ADIPOR1	1	202915710	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	2669	202915710	46334911	22	30310											
SYT14	255928	genome.wustl.edu	37	chr1	210334142	210334142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatgcaagacatccatcCgcagagggcagccaaatcca	15	4	8	14	1	0	2	0	0	0	2	3	2	3	2	5	1	2	3	5	1	3	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:210334142C>T	ENST00000472886.1	+	8	1437	c.1423C>T	c.(1423-1425)Cgc>Tgc	p.R475C	SYT14_ENST00000534859.1_Missense_Mutation_p.R501C|SYT14_ENST00000367015.1_Missense_Mutation_p.R437C|SYT14_ENST00000367019.1_Missense_Mutation_p.R494C|SYT14_ENST00000422431.1_Missense_Mutation_p.R539C|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Missense_Mutation_p.R437C|SYT14_ENST00000399639.2_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	475	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		GACATCCATCCGCAGAGGGCA	0.378																																																	0													110	115	113					1																	210334142		2203	4299	6502	SO:0001583	missense	0			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"Synaptotagmins"	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1423C>T	1.37:g.210334142C>T	ENSP00000418901:p.Arg475Cys		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R539C	ENST00000472886.1	37	c.1615	CCDS31014.1	1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351773	0.24512	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.84	5.84	0.93424	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.128347	0.64402	D	0.000019	T	0.70316	0.3210	L	0.53249	1.67	0.80722	D	1	P;B;B;P	0.44627	0.786;0.376;0.009;0.839	B;B;B;B	0.41088	0.329;0.168;0.007;0.347	T	0.71073	-0.4698	10	0.44086	T	0.13	-6.4563	20.1251	0.97974	0.0:1.0:0.0:0.0	.	522;475;494;539	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	C	539;501;437;494;475;437	ENSP00000389039:R539C;ENSP00000442891:R501C;ENSP00000437423:R437C;ENSP00000355986:R494C;ENSP00000418901:R475C;ENSP00000355982:R437C	ENSP00000355982:R437C	R	+	1	0	SYT14	208400765	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.686000	0.68211	2.751000	0.94390	0.585000	0.79938	CGC	SYT14	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000143469		0.378	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT14	HGNC	protein_coding	OTTHUMT00000089124.1	-	0	44	0	C	NM_153262		210334142	1	tier1	-	no_errors	ENST00000422431	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	T	T	210334142	C	T	210334142	3	4	112	1	0	0	0	0	1	0	0	0	15517	652	23	1	1653	1	SYT14	1	210334142	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	7418432	210334142	38916479	23	30311											
USH2A	7399	genome.wustl.edu	37	chr1	216052380	216052380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaagtgatgtgagggtcagGcatgtgaatctcatagctaa	13	11	12	5	0	2	3	2	3	1	0	3	3	2	3	0	2	1	2	0	2	5	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:216052380G>T	ENST00000307340.3	-	42	8670	c.8284C>A	c.(8284-8286)Cct>Act	p.P2762T	USH2A_ENST00000366943.2_Missense_Mutation_p.P2762T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2762	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P2762S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGGGTCAGGCATGTGAATC	0.403										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	endometrium(1)											156	157	157					1																	216052380		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"Fibronectin type III domain containing"	12601	protein-coding gene	gene with protein product	"usherin"	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8284C>A	1.37:g.216052380G>T	ENSP00000305941:p.Pro2762Thr		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P2762T	ENST00000307340.3	37	c.8284	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957694	0.73902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	6.16	4.29	0.51040	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44902	D	0.000420	T	0.64103	0.2568	M	0.62723	1.935	0.49051	D	0.99974	D	0.63880	0.993	P	0.61070	0.883	T	0.61959	-0.6955	10	0.35671	T	0.21	.	12.1916	0.54275	0.0642:0.1211:0.8147:0.0	.	2762	O75445	USH2A_HUMAN	T	2762	ENSP00000305941:P2762T;ENSP00000355910:P2762T	ENSP00000305941:P2762T	P	-	1	0	USH2A	214119003	1.000000	0.71417	0.920000	0.36463	0.975000	0.68041	7.302000	0.78861	0.925000	0.37094	0.650000	0.86243	CCT	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0	14	0	G	NM_007123		216052380	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T	T	216052380	G	T	216052380	3	4	112	1	0	0	0	0	1	0	0	0	17085	1203	42	3	7448	3	USH2A	1	216052380	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	5718238	216052380	33198241	24	30312											
IARS2	55699	genome.wustl.edu	37	chr1	220318982	220318982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcttaaagggaaattcctCatcaacttagaaggtaagaa	17	9	9	6	0	2	2	2	0	0	2	3	4	3	3	1	2	2	2	1	2	8	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:220318982C>T	ENST00000302637.5	+	22	2987	c.2883C>T	c.(2881-2883)ctC>ctT	p.L961L	IARS2_ENST00000366922.1_Silent_p.L889L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	961					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.L961L(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAAATTCCTCATCAACTTAG	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											52	48	50					1																	220318982		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"Aminoacyl tRNA synthetases / Class I"	29685	protein-coding gene	gene with protein product	"isoleucine tRNA ligase 2, mitochondrial"	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2883C>T	1.37:g.220318982C>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.L961	ENST00000302637.5	37	c.2883	CCDS1523.1	1																																																																																			IARS2	-	superfamily_tRNAsynth_1a_anticodon-bd	ENSG00000067704		0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding			0	35	0	C	NM_018060		220318982	1			no_errors	ENST00000302637	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.329	T	T	220318982	C	T	220318982	2	4	112	1	0	0	0	0	0	0	0	1	7501	813	29	3		3	IARS2	1	220318982	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4266602	220318982	28931639	25	30313											
OBSCN	84033	genome.wustl.edu	37	chr1	228434246	228434246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcccaaggcagtgtttGccaaggagcagttggtgcat	10	8	14	9	0	0	1	0	0	0	1	0	2	0	2	2	3	4	5	2	3	2	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:228434246G>T	ENST00000422127.1	+	13	3819	c.3775G>T	c.(3775-3777)Gcc>Tcc	p.A1259S	OBSCN_ENST00000570156.2_Missense_Mutation_p.A1351S|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1259S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1259	Ig-like 13.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCAGTGTTTGCCAAGGAGCA	0.577																																																	0													97	95	96					1																	228434246		2059	4192	6251	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3775G>T	1.37:g.228434246G>T	ENSP00000409493:p.Ala1259Ser		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A1259S	ENST00000422127.1	37	c.3775	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	6.819	0.520245	0.13005	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04551	3.6;3.6	4.84	3.9	0.45041	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.252928	0.33631	N	0.004712	T	0.04227	0.0117	L	0.54863	1.705	0.80722	D	1	B;P	0.36789	0.402;0.57	B;B	0.33454	0.119;0.164	T	0.38156	-0.9674	10	0.08381	T	0.77	.	6.2806	0.21005	0.1621:0.1607:0.6772:0.0	.	1259;1259	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	1259	ENSP00000284548:A1259S;ENSP00000409493:A1259S	ENSP00000284548:A1259S	A	+	1	0	OBSCN	226500869	0.010000	0.17322	0.999000	0.59377	0.324000	0.28378	0.424000	0.21330	0.968000	0.38212	0.563000	0.77884	GCC	OBSCN	-	pfscan_Ig-like_dom	ENSG00000154358		0.577	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0	70	0	G	NM_052843		228434246	1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	20.00	64	16	SNP	0.999	T	T	228434246	G	T	228434246	3	4	112	1	0	0	0	0	1	0	0	0	10851	1319	46	3	3821	3	OBSCN	1	228434246	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	8115264	228434246	20816375	26	30314											
SIPA1L2	57568	genome.wustl.edu	37	chr1	232575095	232575095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgtgtcgatgccactgtCggtggaggcccctttgatgt	4	11	15	11	3	0	1	0	1	0	0	2	3	0	2	4	4	1	0	4	4	0	1	rs532670311		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:232575095C>T	ENST00000366630.1	-	14	4148	c.3790G>A	c.(3790-3792)Gac>Aac	p.D1264N	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D338N|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1264N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1264					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATGCCACTGTCGGTGGAGGCC	0.637													C|||	1	0.000199681	0	0	5008	,	,		18329	0.001		0	False		,,,				2504	0																0													52	57	56					1																	232575095		2101	4242	6343	SO:0001583	missense	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3790G>A	1.37:g.232575095C>T	ENSP00000355589:p.Asp1264Asn		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.D1264N	ENST00000366630.1	37	c.3790	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.405917	0.96051	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.58210	0.35;0.35;0.35	5.39	5.39	0.77823	.	0.050050	0.85682	D	0.000000	T	0.75019	0.3793	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.945;0.991	T	0.75445	-0.3315	10	0.49607	T	0.09	-39.9965	19.3359	0.94319	0.0:1.0:0.0:0.0	.	1264;338	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	N	1264;1264;338	ENSP00000355589:D1264N;ENSP00000262861:D1264N;ENSP00000309102:D338N	ENSP00000262861:D1264N	D	-	1	0	SIPA1L2	230641718	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.220000	0.78008	2.804000	0.96469	0.650000	0.86243	GAC	SIPA1L2	-	NULL	ENSG00000116991		0.637	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0	79	0	C	XM_045839		232575095	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	missense	13.89	93	15	SNP	1.000	T	T	232575095	C	T	232575095	3	4	112	1	0	0	0	0	1	0	0	0	14375	884	31	1	1414	1	SIPA1L2	1	232575095	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4140849	232575095	16675526	27	30315											
FMN2	56776	genome.wustl.edu	37	chr1	240370836	240370836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggtacagaaatgctGccaccccctccccctcctct	7	8	7	19	0	1	1	0	0	1	1	3	1	3	1	6	1	4	3	6	1	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:240370836G>T	ENST00000319653.9	+	5	2954	c.2724G>T	c.(2722-2724)ctG>ctT	p.L908L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	908	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAAATGCTGCCACCCCCTC	0.662																																																	0													49	53	51					1																	240370836		2203	4299	6502	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2724G>T	1.37:g.240370836G>T			B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.L908	ENST00000319653.9	37	c.2724	CCDS31069.2	1																																																																																			FMN2	-	smart_FH2_Formin	ENSG00000155816		0.662	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0	45	0	G	XM_371352		240370836	1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	silent	13.79	50	8	SNP	0.614	T	T	240370836	G	T	240370836	2	4	112	1	0	0	0	0	0	0	0	1	5972	1306	46	3		3	FMN2	1	240370836	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	7795741	240370836	8879785	28	30316											
AHCTF1	25909	genome.wustl.edu	37	chr1	247030980	247030980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctattgaaaggtgtggtGctatttataggttctttgct	8	18	10	5	0	1	1	0	1	1	0	1	1	1	1	1	3	3	3	1	3	6	9			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr1:247030980G>T	ENST00000391829.2	-	25	3345	c.3222C>A	c.(3220-3222)agC>agA	p.S1074R	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1083R|AHCTF1_ENST00000366508.1_Missense_Mutation_p.S1109R|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1074	Disordered. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAGGTGTGGTGCTATTTATAG	0.373																																					Colon(145;197 1800 4745 15099 26333)												0													157	145	149					1																	247030980		2203	4300	6503	SO:0001583	missense	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"ELYS transcription factor like protein TMBS62"	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.3222C>A	1.37:g.247030980G>T	ENSP00000375705:p.Ser1074Arg		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.S1083R	ENST00000391829.2	37	c.3249		1	.	.	.	.	.	.	.	.	.	.	G	2.451	-0.326260	0.05350	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.78481	-1.18;-1.18;-1.18	4.65	0.669	0.17918	.	0.853434	0.10797	N	0.633137	T	0.63920	0.2552	L	0.47716	1.5	0.09310	N	1	B;B	0.33583	0.418;0.346	B;B	0.30943	0.122;0.049	T	0.47355	-0.9124	10	0.21014	T	0.42	-2.0E-4	3.8144	0.08809	0.4202:0.0:0.3193:0.2605	.	1109;1074	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	R	1109;1083;1074	ENSP00000355464:S1109R;ENSP00000355465:S1083R;ENSP00000375705:S1074R	ENSP00000355465:S1083R	S	-	3	2	AHCTF1	245097603	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.353000	0.34045	-0.060000	0.13132	-0.384000	0.06662	AGC	AHCTF1	-	NULL	ENSG00000153207		0.373	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	0	66	0	G	NM_015446		247030980	-1	tier1	-	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.000	T	T	247030980	G	T	247030980	3	4	112	1	0	0	0	0	1	0	0	0	408	1310	46	3	3626	3	AHCTF1	1	247030980	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	6660144	247030980	2219641	29	30317											
RAB10	10890	genome.wustl.edu	37	chr2	26350815	26350815	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttagctgaagatatccttCgaaaggtaagttcctgtttt	10	15	9	7	2	0	2	0	1	0	1	3	3	2	2	2	1	1	5	2	1	5	7			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:26350815C>T	ENST00000264710.4	+	5	1013	c.514C>T	c.(514-516)Cga>Tga	p.R172*	RAB10_ENST00000462003.1_3'UTR	NM_016131.4	NP_057215.3	P61026	RAB10_HUMAN	RAB10, member RAS oncogene family	172					antigen processing and presentation (GO:0019882)|axonogenesis (GO:0007409)|basolateral protein localization (GO:0061467)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum tubular network organization (GO:0071786)|endosomal transport (GO:0016197)|establishment of neuroblast polarity (GO:0045200)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|establishment of protein localization to membrane (GO:0090150)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi to plasma membrane transport (GO:0006893)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|polarized epithelial cell differentiation (GO:0030859)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum tubular network (GO:0071782)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|insulin-responsive compartment (GO:0032593)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATATCCTTCGAAAGGTAAG	0.368																																																	0													159	154	156					2																	26350815		2203	4300	6503	SO:0001587	stop_gained	0			AF106681	CCDS1720.1	2p23.3	2008-05-21			ENSG00000084733	ENSG00000084733		"RAB, member RAS oncogene"	9759	protein-coding gene	gene with protein product	"ras-related GTP-binding protein"	612672				7688123	Standard	NM_016131		Approved		uc002rgv.3	P61026	OTTHUMG00000094796	ENST00000264710.4:c.514C>T	2.37:g.26350815C>T	ENSP00000264710:p.Arg172*		D6W538|O88386|Q6IA52|Q9D7X6|Q9H0T3	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R172*	ENST00000264710.4	37	c.514	CCDS1720.1	2	.	.	.	.	.	.	.	.	.	.	C	40	8.373634	0.98781	.	.	ENSG00000084733	ENST00000264710	.	.	.	5.45	5.45	0.79879	.	0.308007	0.32563	N	0.005928	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.3594	0.83251	0.0:1.0:0.0:0.0	.	.	.	.	X	172	.	ENSP00000264710:R172X	R	+	1	2	RAB10	26204319	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.507000	0.66999	2.712000	0.92718	0.650000	0.86243	CGA	RAB10	-	superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase	ENSG00000084733		0.368	RAB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB10	HGNC	protein_coding	OTTHUMT00000211610.1	-	0	46	0	C	NM_016131		26350815	1	tier1	-	no_errors	ENST00000264710	ensembl	human	known	74_37	nonsense	23.40	72	22	SNP	1.000	T	T	26350815	C	T	26350815	4	4	112	1	0	0	0	0	0	1	0	0	12935	876	31	1	532	1	RAB10	2	26350815	Nonsense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		26350815	216848558	30	30318											
WDR43	23160	genome.wustl.edu	37	chr2	29150504	29150504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctggtcatcatgcagctAtcaagcccgctcctccacaa	9	10	6	16	1	3	0	3	0	0	0	6	0	6	0	4	1	3	3	4	1	3	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:29150504A>G	ENST00000407426.3	+	10	1299	c.1243A>G	c.(1243-1245)Atc>Gtc	p.I415V	Y_RNA_ENST00000410292.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA|SNORD53_ENST00000579969.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	415						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TCATGCAGCTATCAAGCCCGC	0.463																																																	0													80	80	80					2																	29150504		1985	4172	6157	SO:0001583	missense	0			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"WD repeat domain containing"	28945	protein-coding gene	gene with protein product	"UTP5, small subunit (SSU) processome component, homolog (yeast)"					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1243A>G	2.37:g.29150504A>G	ENSP00000384302:p.Ile415Val		Q15395|Q92577	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I415V	ENST00000407426.3	37	c.1243	CCDS46251.1	2	.	.	.	.	.	.	.	.	.	.	A	1.294	-0.606713	0.03717	.	.	ENSG00000163811	ENST00000407426	T	0.72942	-0.7	5.69	-2.79	0.05841	.	0.665977	0.16260	N	0.222287	T	0.52108	0.1714	L	0.32530	0.975	0.20638	N	0.999874	B	0.02656	0.0	B	0.04013	0.001	T	0.30851	-0.9964	10	0.27082	T	0.32	-0.1255	8.965	0.35872	0.3975:0.1183:0.4842:0.0	.	415	Q15061	WDR43_HUMAN	V	415	ENSP00000384302:I415V	ENSP00000384302:I415V	I	+	1	0	WDR43	29004008	0.096000	0.21769	0.016000	0.15963	0.459000	0.32528	0.503000	0.22610	-0.753000	0.04721	-0.911000	0.02809	ATC	WDR43	-	NULL	ENSG00000163811		0.463	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	-	0	60	0	A	XM_087089		29150504	1	tier1	-	no_errors	ENST00000407426	ensembl	human	known	74_37	missense	26.58	58	21	SNP	0.014	G	G	29150504	A	G	29150504	3	3	112	1	0	0	0	0	1	0	0	0	17344	449	16	4	1281	4	WDR43	2	29150504	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	2799689	29150504	214048869	31	30319											
CAPN13	92291	genome.wustl.edu	37	chr2	31010157	31010157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtctttgaacttgatgatgGaggtctccactgaaggctcc	8	12	12	9	0	2	4	0	4	2	0	4	5	3	5	2	4	1	1	2	4	2	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:31010157G>T	ENST00000295055.8	-	2	211	c.35C>A	c.(34-36)tCc>tAc	p.S12Y	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.S12Y	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	12					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CTTGATGATGGAGGTCTCCAC	0.502																																																	0													45	45	45					2																	31010157		1996	4159	6155	SO:0001583	missense	0				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.35C>A	2.37:g.31010157G>T	ENSP00000295055:p.Ser12Tyr		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.S12Y	ENST00000295055.8	37	c.35	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638685	0.47153	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.88509	-2.39;-2.38	5.59	3.66	0.41972	.	0.582488	0.17309	N	0.178965	D	0.85452	0.5700	L	0.38531	1.155	0.09310	N	1	D	0.56521	0.976	P	0.47744	0.556	T	0.78021	-0.2367	10	0.72032	D	0.01	.	9.3888	0.38361	0.0:0.1478:0.6791:0.1731	.	12	Q6MZZ7	CAN13_HUMAN	Y	12	ENSP00000295055:S12Y;ENSP00000431298:S12Y	ENSP00000295055:S12Y	S	-	2	0	CAPN13	30863661	0.014000	0.17966	0.007000	0.13788	0.013000	0.08279	2.072000	0.41510	1.463000	0.47967	-0.274000	0.10170	TCC	CAPN13	-	NULL	ENSG00000162949		0.502	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	-	0	51	0	G	NM_144575		31010157	-1	tier1	-	no_errors	ENST00000295055	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.003	T	T	31010157	G	T	31010157	3	4	112	1	0	0	0	0	1	0	0	0	2633	1174	41	3	2058	3	CAPN13	2	31010157	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1859653	31010157	212189216	32	30320											
EML4	27436	genome.wustl.edu	37	chr2	42508024	42508024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgtttatgcgcggtcgGccaattaccatgttcattcc	10	13	8	10	3	1	0	1	0	0	0	3	0	2	0	3	2	2	2	3	2	5	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:42508024G>A	ENST00000318522.5	+	7	964	c.702G>A	c.(700-702)cgG>cgA	p.R234R	EML4_ENST00000402711.2_Silent_p.R176R|EML4_ENST00000401738.3_Silent_p.R245R	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	234					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGCGCGGTCGGCCAATTACCA	0.398			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													100	90	93					2																	42508024		2203	4300	6503	SO:0001819	synonymous_variant	0			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"WD repeat domain containing"	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.702G>A	2.37:g.42508024G>A			A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R234	ENST00000318522.5	37	c.702	CCDS1807.1	2																																																																																			EML4	-	pfam_HELP	ENSG00000143924		0.398	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	-	0	65	0	G	NM_019063		42508024	1	tier1	-	no_errors	ENST00000318522	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.998	A	A	42508024	G	A	42508024	2	1	112	1	0	0	0	0	0	0	0	1	5115	1190	42	3		3	EML4	2	42508024	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	11497867	42508024	200691349	33	30321											
CCDC142	84865	genome.wustl.edu	37	chr2	74701784	74701784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccaccaggtagccctcCgggctaggtccccttcctcc	4	10	8	19	1	0	0	0	0	0	0	5	0	5	0	8	3	1	2	8	3	2	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:74701784C>T	ENST00000393965.3	-	9	2538	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	CCDC142_ENST00000290418.4_Silent_p.P707P|MRPL53_ENST00000409710.1_5'Flank|MRPL53_ENST00000258105.7_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	714										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGTAGCCCTCCGGGCTAGGTC	0.617																																																	0													51	51	51					2																	74701784		2203	4300	6503	SO:0001819	synonymous_variant	0			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.2142G>A	2.37:g.74701784C>T			B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	NULL	p.P714	ENST00000393965.3	37	c.2142		2																																																																																			CCDC142	-	NULL	ENSG00000135637		0.617	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	-	0	57	0	C	NM_032779		74701784	-1	tier1	-	no_errors	ENST00000393965	ensembl	human	known	74_37	silent	18.92	60	14	SNP	0.011	T	T	74701784	C	T	74701784	2	4	112	1	0	0	0	0	0	0	0	1	2783	639	23	1		1	CCDC142	2	74701784	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	32193760	74701784	168497589	34	30322											
REG3A	5068	genome.wustl.edu	37	chr2	79384410	79384410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagttataatctttccacCtcagaaatgctggagagaca	14	11	7	9	0	2	2	1	0	1	2	3	4	3	3	2	1	2	2	2	1	4	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:79384410C>A	ENST00000409839.3	-	6	506	c.470G>T	c.(469-471)aGg>aTg	p.R157M	AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.R157M|REG3A_ENST00000393878.1_Missense_Mutation_p.R157M	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	157	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATCTTTCCACCTCAGAAATGC	0.458																																																	0													87	83	84					2																	79384410		2203	4300	6503	SO:0001583	missense	0			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"pancreatitis-associated protein"	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.470G>T	2.37:g.79384410C>A	ENSP00000386630:p.Arg157Met			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R157M	ENST00000409839.3	37	c.470	CCDS1965.1	2	.	.	.	.	.	.	.	.	.	.	c	15.73	2.919633	0.52653	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.19532	2.14;2.14;2.14	3.96	-6.05	0.02172	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.610776	0.15484	N	0.259913	T	0.15305	0.0369	M	0.66939	2.045	0.09310	N	1	B	0.16396	0.017	B	0.17979	0.02	T	0.29941	-0.9995	10	0.87932	D	0	.	1.8381	0.03143	0.1591:0.3821:0.1443:0.3145	.	157	Q06141	REG3A_HUMAN	M	157	ENSP00000386630:R157M;ENSP00000377456:R157M;ENSP00000304311:R157M	ENSP00000304311:R157M	R	-	2	0	REG3A	79237918	0.000000	0.05858	0.001000	0.08648	0.347000	0.29111	-2.352000	0.01091	-1.047000	0.03242	-1.334000	0.01262	AGG	REG3A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000172016		0.458	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2	-	0	66	0	C	NM_002580		79384410	-1	tier1	-	no_errors	ENST00000305165	ensembl	human	known	74_37	missense	21.62	58	16	SNP	0.001	A	A	79384410	C	A	79384410	3	1	112	1	0	0	0	0	1	0	0	0	13257	681	24	3	61	3	REG3A	2	79384410	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4682626	79384410	163814963	35	30323											
CIAO1	55654	genome.wustl.edu	37	chr2	96934312	96934312	+	5'Flank	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgtggagcttggcctttGacccgagtggccagcgcctg	4	10	15	12	2	0	1	0	1	0	0	0	3	0	2	4	3	2	1	4	3	0	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:96934312G>C	ENST00000258439.3	-	0	0				CIAO1_ENST00000488633.1_Missense_Mutation_p.D203H|TMEM127_ENST00000432959.1_5'Flank	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						CTTGGCCTTTGACCCGAGTGG	0.542																																																	0													115	103	107					2																	96934312		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96934312G>C	Exception_encountered		D3DXH0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D203H	ENST00000258439.3	37	c.607	CCDS2018.1	2	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996617	0.93167	.	.	ENSG00000144021	ENST00000488633	T	0.65732	-0.17	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	N	0.01188	-0.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74346	-0.3695	10	0.66056	D	0.02	-44.9586	17.5946	0.88007	0.0:0.0:1.0:0.0	.	203	O76071	CIAO1_HUMAN	H	203	ENSP00000418287:D203H	ENSP00000418287:D203H	D	+	1	0	CIAO1	96298039	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.404000	0.97306	2.756000	0.94617	0.563000	0.77884	GAC	CIAO1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144021		0.542	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIAO1	HGNC	protein_coding	OTTHUMT00000252845.3	-	0	49	0	G	NM_017849		96934312	1	tier1	-	no_errors	ENST00000488633	ensembl	human	known	74_37	missense	15.49	60	11	SNP	1.000	C	C	96934312	G	C	96934312	1	2	112	0	1	0	0	0	0	0	0	0	3425	1290	45	5		5	CIAO1	2	96934312	5'Flank	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	17549902	96934312	146265061	36	30324											
PSD4	23550	genome.wustl.edu	37	chr2	113942993	113942993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtcctttttggccccagGtgactcttaactcccaggac	7	11	10	13	0	1	1	0	1	1	0	3	3	3	2	4	4	1	0	4	4	1	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:113942993G>T	ENST00000245796.6	+	4	1420	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L	PSD4_ENST00000441564.3_Missense_Mutation_p.V409L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	409					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGCCCCAGGTGACTCTTAA	0.542																																																	0													84	89	88					2																	113942993		2203	4300	6503	SO:0001583	missense	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"Pleckstrin homology (PH) domain containing"	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1225G>T	2.37:g.113942993G>T	ENSP00000245796:p.Val409Leu		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.V409L	ENST00000245796.6	37	c.1225	CCDS33276.1	2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779922	0.31502	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10382	2.98;2.88	3.63	2.74	0.32292	.	1.427400	0.04698	N	0.415269	T	0.09379	0.0231	N	0.24115	0.695	0.09310	N	0.999995	B;B	0.27732	0.187;0.118	B;B	0.29785	0.107;0.05	T	0.35574	-0.9783	10	0.33141	T	0.24	.	7.465	0.27316	0.1213:0.0:0.8787:0.0	.	409;409	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	L	409	ENSP00000245796:V409L;ENSP00000413997:V409L	ENSP00000245796:V409L	V	+	1	0	PSD4	113659464	0.000000	0.05858	0.004000	0.12327	0.248000	0.25809	0.426000	0.21363	1.065000	0.40693	0.563000	0.77884	GTG	PSD4	-	NULL	ENSG00000125637		0.542	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0	34	0	G	NM_012455		113942993	1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.004	T	T	113942993	G	T	113942993	3	4	112	1	0	0	0	0	1	0	0	0	12691	1261	44	3	1235	3	PSD4	2	113942993	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	17008681	113942993	129256380	37	30325											
MYO7B	4648	genome.wustl.edu	37	chr2	128370116	128370116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggtgcagaccggccCatgtccaacctggagaaggt	8	7	14	12	1	0	2	0	0	0	2	1	3	1	2	5	5	2	1	5	5	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:128370116C>T	ENST00000409816.2	+	24	3290	c.3258C>T	c.(3256-3258)ccC>ccT	p.P1086P	MYO7B_ENST00000389524.4_Silent_p.P1086P|MYO7B_ENST00000428314.1_Silent_p.P1086P			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1086	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGACCGGCCCATGTCCAACC	0.602																																																	0													67	74	72					2																	128370116		2127	4237	6364	SO:0001819	synonymous_variant	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"Myosins / Myosin superfamily : Class VII"	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.3258C>T	2.37:g.128370116C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.P1086	ENST00000409816.2	37	c.3258	CCDS46405.1	2																																																																																			MYO7B	-	smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000169994		0.602	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	-	0	31	0	C	XM_291001		128370116	1	tier1	-	no_errors	ENST00000389524	ensembl	human	known	74_37	silent	21.95	32	9	SNP	1.000	T	T	128370116	C	T	128370116	2	4	112	1	0	0	0	0	0	0	0	1	10121	581	21	3		3	MYO7B	2	128370116	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	14427123	128370116	114829257	38	30326											
LCT	3938	genome.wustl.edu	37	chr2	136579638	136579638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaactcattaatatcaaacCcaatggtgagcacttggtct	14	11	7	9	0	3	1	2	1	1	0	3	2	3	1	1	2	3	1	1	2	5	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:136579638C>T	ENST00000264162.2	-	5	948	c.938G>A	c.(937-939)gGg>gAg	p.G313E	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	313	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AATATCAAACCCAATGGTGAG	0.333																																																	0													131	135	134					2																	136579638		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.938G>A	2.37:g.136579638C>T	ENSP00000264162:p.Gly313Glu		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G313E	ENST00000264162.2	37	c.938	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559040	0.86335	.	.	ENSG00000115850	ENST00000264162	T	0.34472	1.36	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	M	0.63843	1.955	0.53688	D	0.999976	D	0.89917	1.0	D	0.83275	0.996	T	0.60188	-0.7312	10	0.87932	D	0	-32.4761	17.9984	0.89191	0.0:1.0:0.0:0.0	.	313	P09848	LPH_HUMAN	E	313	ENSP00000264162:G313E	ENSP00000264162:G313E	G	-	2	0	LCT	136296108	0.998000	0.40836	0.913000	0.36048	0.996000	0.88848	4.791000	0.62460	2.832000	0.97577	0.655000	0.94253	GGG	LCT	-	NULL	ENSG00000115850		0.333	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0	81	0	C	NM_002299		136579638	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	18.46	53	12	SNP	0.996	T	T	136579638	C	T	136579638	3	4	112	1	0	0	0	0	1	0	0	0	8721	623	22	3	4897	3	LCT	2	136579638	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	8209522	136579638	106619735	39	30327											
XIRP2	129446	genome.wustl.edu	37	chr2	168101152	168101152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtaaaactgaacaaactAgagatattgttaaaggggat	20	9	9	3	0	0	2	0	1	0	1	0	4	0	3	0	2	3	2	0	2	9	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:168101152A>G	ENST00000409195.1	+	9	3339	c.3250A>G	c.(3250-3252)Aga>Gga	p.R1084G	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1084G|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R862G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	909					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAACAAACTAGAGATATTGT	0.348																																																	0													31	29	30					2																	168101152		1805	4073	5878	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3250A>G	2.37:g.168101152A>G	ENSP00000386840:p.Arg1084Gly		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.R1084G	ENST00000409195.1	37	c.3250	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	1.699	-0.502136	0.04261	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02525	4.26;4.26;4.26	6.08	3.72	0.42706	.	0.692346	0.14820	N	0.296507	T	0.01661	0.0053	N	0.03608	-0.345	0.19575	N	0.999967	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.13407	0.004;0.009;0.009	T	0.49351	-0.8949	10	0.26408	T	0.33	-3.2325	9.7023	0.40194	0.8588:0.0:0.1412:0.0	.	909;909;862	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	1084;1084;862	ENSP00000386840:R1084G;ENSP00000295237:R1084G;ENSP00000387255:R862G	ENSP00000295237:R1084G	R	+	1	2	XIRP2	167809398	0.028000	0.19301	0.447000	0.26932	0.666000	0.39218	1.181000	0.32017	0.547000	0.28938	0.533000	0.62120	AGA	XIRP2	-	NULL	ENSG00000163092		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0	40	0	A	NM_152381		168101152	1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.507	G	G	168101152	A	G	168101152	3	3	112	1	0	0	0	0	1	0	0	0	17479	412	15	4	3280	4	XIRP2	2	168101152	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	31521514	168101152	75098221	40	30328											
TTN	7273	genome.wustl.edu	37	chr2	179549092	179549092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcctcttttttagttacaGcaacaagaactttttcttcc	9	16	5	11	1	2	1	0	0	2	1	3	1	3	1	2	0	4	2	2	0	5	7			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:179549092G>A	ENST00000591111.1	-	130	31960	c.31736C>T	c.(31735-31737)gCt>gTt	p.A10579V	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A10896V|TTN_ENST00000342992.6_Missense_Mutation_p.A9652V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGTTACAGCAACAAGAAC	0.388																																																	0													124	113	117					2																	179549092		1831	4078	5909	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31736C>T	2.37:g.179549092G>A	ENSP00000465570:p.Ala10579Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A9652V	ENST00000591111.1	37	c.28955		2	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097376	0.56075	.	.	ENSG00000155657	ENST00000342992	T	0.65364	-0.15	5.71	4.83	0.62350	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.49457	0.1558	N	0.19112	0.55	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.47471	-0.9115	9	0.87932	D	0	.	14.616	0.68549	0.0698:0.0:0.9302:0.0	.	10579	Q8WZ42	TITIN_HUMAN	V	9652	ENSP00000343764:A9652V	ENSP00000343764:A9652V	A	-	2	0	TTN	179257337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.784000	0.55416	1.422000	0.47177	0.655000	0.94253	GCT	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	49	0	G	NM_133378		179549092	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	7.27	50	4	SNP	1.000	A	A	179549092	G	A	179549092	3	1	112	1	0	0	0	0	1	0	0	0	16784	971	34	3	71766	3	TTN	2	179549092	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	11447940	179549092	63650281	41	30329											
TTN	7273	genome.wustl.edu	37	chr2	179575994	179575994	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggttctgatccacttatGgcacaatcaaaaacaactgg	15	10	7	9	0	2	1	1	1	1	0	3	1	3	1	1	3	2	2	1	3	6	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:179575994G>T	ENST00000591111.1	-	95	27242	c.27018C>A	c.(27016-27018)gcC>gcA	p.A9006A	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A9323A|TTN_ENST00000342992.6_Silent_p.A8079A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13145	Ig-like 73.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCACTTATGGCACAATCAA	0.393																																																	0													162	156	158					2																	179575994		1873	4111	5984	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27018C>A	2.37:g.179575994G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.A8079	ENST00000591111.1	37	c.24237		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0	72	0	G	NM_133378		179575994	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	14.47	65	11	SNP	0.008	T	T	179575994	G	T	179575994	2	4	112	1	0	0	0	0	0	0	0	1	16784	1335	47	3		3	TTN	2	179575994	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	26902	179575994	63623379	42	30330											
FSIP2	401024	genome.wustl.edu	37	chr2	186669080	186669080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttgtgtttctcagaaaGatacaaagaaatggttcaaa	18	12	7	4	0	2	3	2	0	1	3	3	3	2	3	0	1	1	2	0	1	6	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:186669080G>A	ENST00000424728.1	+	17	15047	c.15047G>A	c.(15046-15048)aGa>aAa	p.R5016K	FSIP2_ENST00000343098.5_Missense_Mutation_p.R5105K			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5016										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCTCAGAAAGATACAAAGAA	0.294																																																	0																																										SO:0001583	missense	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15047G>A	2.37:g.186669080G>A	ENSP00000401306:p.Arg5016Lys		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.R5105K	ENST00000424728.1	37	c.15314		2	.	.	.	.	.	.	.	.	.	.	G	2.479	-0.320092	0.05386	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.41065	1.01;1.01	5.66	-0.87	0.10646	.	.	.	.	.	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.24584	-1.0156	7	0.05959	T	0.93	.	1.4613	0.02396	0.2194:0.2936:0.3461:0.1408	.	.	.	.	K	5105;5016	ENSP00000344403:R5105K;ENSP00000401306:R5016K	ENSP00000344403:R5105K	R	+	2	0	FSIP2	186377325	0.000000	0.05858	0.010000	0.14722	0.163000	0.22366	-0.469000	0.06648	-0.496000	0.06650	0.585000	0.79938	AGA	FSIP2	-	NULL	ENSG00000188738		0.294	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0	42	0	G	NM_173651		186669080	1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.003	A	A	186669080	G	A	186669080	3	1	112	1	0	0	0	0	1	0	0	0	6099	942	33	3	15380	3	FSIP2	2	186669080	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	7093086	186669080	56530293	43	30331											
PMS1	5378	genome.wustl.edu	37	chr2	190732645	190732645	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgaatggtttcaagataaaAttgataccaggtatgatagt	15	12	10	4	1	1	3	1	2	0	1	1	4	1	3	1	2	1	2	1	2	7	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:190732645A>G	ENST00000441310.2	+	11	2696	c.2463A>G	c.(2461-2463)aaA>aaG	p.K821K	PMS1_ENST00000447232.2_Silent_p.K659K|PMS1_ENST00000418224.3_Silent_p.K645K|PMS1_ENST00000409823.3_Silent_p.K782K|PMS1_ENST00000432292.3_Silent_p.K645K	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	821					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TCAAGATAAAATTGATACCAG	0.338			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)																															yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)		E	0													113	114	114					2																	190732645		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"postmeiotic segregation increased (S. cerevisiae) 1"	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2463A>G	2.37:g.190732645A>G			D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Silent	SNP	pfam_DNA_mismatch_repair_C,pfam_HMG_box_dom,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,tigrfam_DNA_mismatch_repair_N	p.K821	ENST00000441310.2	37	c.2463	CCDS2302.1	2																																																																																			PMS1	-	NULL	ENSG00000064933		0.338	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS1	HGNC	protein_coding	OTTHUMT00000255918.2	-	0	43	0	A			190732645	1	tier1	-	no_errors	ENST00000441310	ensembl	human	known	74_37	silent	21.05	45	12	SNP	0.909	G	G	190732645	A	G	190732645	2	3	112	1	0	0	0	0	0	0	0	1	12181	98	4	4		4	PMS1	2	190732645	Silent	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	4063565	190732645	52466728	44	30332											
TMEFF2	23671	genome.wustl.edu	37	chr2	192863843	192863843	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctgacacgatgcttCtttgatttggcatgcattat	7	18	8	8	1	2	2	0	2	2	0	2	3	2	2	0	1	2	4	0	1	1	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:192863843C>A	ENST00000272771.5	-	6	1812	c.628G>T	c.(628-630)Gaa>Taa	p.E210*	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000392314.1_Nonsense_Mutation_p.E210*|TMEFF2_ENST00000487771.1_5'UTR	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	210	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CACGATGCTTCTTTGATTTGG	0.363																																					Pancreas(50;1277 1381 28487 47072)												0													148	137	141					2																	192863843		2203	4300	6503	SO:0001587	stop_gained	0			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"transmembrane protein TENB2", "tomoregulin", "cancer/testis antigen family 120, member 2"	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.628G>T	2.37:g.192863843C>A	ENSP00000272771:p.Glu210*		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Nonsense_Mutation	SNP	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.E210*	ENST00000272771.5	37	c.628	CCDS2314.1	2	.	.	.	.	.	.	.	.	.	.	C	49	15.746702	0.99844	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	.	.	.	5.74	5.74	0.90152	.	0.100830	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-18.3853	20.2982	0.98569	0.0:1.0:0.0:0.0	.	.	.	.	X	210	.	ENSP00000272771:E210X	E	-	1	0	TMEFF2	192572088	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.873000	0.98535	0.563000	0.77884	GAA	TMEFF2	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000144339		0.363	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	-	0	100	0	C	NM_016192		192863843	-1	tier1	-	no_errors	ENST00000272771	ensembl	human	known	74_37	nonsense	18.18	117	26	SNP	1.000	A	A	192863843	C	A	192863843	4	1	112	1	0	0	0	0	0	1	0	0	16061	922	32	3	516	3	TMEFF2	2	192863843	Nonsense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	2131198	192863843	50335530	45	30333											
ANKRD44	91526	genome.wustl.edu	37	chr2	197870538	197870538	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtggccacgagcagctgCatagtgcaagggcgtcctcc	7	6	15	13	3	0	0	0	0	0	0	2	1	2	0	3	3	4	4	3	3	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:197870538C>G	ENST00000328737.2	-	21	2228	c.2152G>C	c.(2152-2154)Gca>Cca	p.A718P	ANKRD44_ENST00000282272.8_Missense_Mutation_p.A735P|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A718P|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A718P			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	743										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGAGCAGCTGCATAGTGCAAG	0.517																																																	0													169	163	165					2																	197870538		2203	4300	6503	SO:0001583	missense	0			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits", "Ankyrin repeat domain containing"	25259	protein-coding gene	gene with protein product	"protein phosphatase 6 ankyrin repeat subunit B"						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2152G>C	2.37:g.197870538C>G	ENSP00000331516:p.Ala718Pro		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A718P	ENST00000328737.2	37	c.2152		2	.	.	.	.	.	.	.	.	.	.	C	34	5.310997	0.95629	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	D;D;D;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.96503	0.8859	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97807	1.0248	10	0.87932	D	0	.	19.1301	0.93402	0.0:1.0:0.0:0.0	.	761	Q8N8A2-2	.	P	558;735;718;718;718	ENSP00000403415:A558P;ENSP00000282272:A735P;ENSP00000331516:A718P;ENSP00000402420:A718P;ENSP00000338794:A718P	ENSP00000282272:A735P	A	-	1	0	ANKRD44	197578783	1.000000	0.71417	0.874000	0.34290	0.983000	0.72400	7.651000	0.83577	2.767000	0.95098	0.655000	0.94253	GCA	ANKRD44	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000065413		0.517	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1		0	23	0	C	NM_153697		197870538	-1			no_errors	ENST00000328737	ensembl	human	known	74_37	missense	14.63	35	6	SNP	1.000	G	G	197870538	C	G	197870538	3	3	112	1	0	0	0	0	1	0	0	0	672	710	25	5	631	5	ANKRD44	2	197870538	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	5006695	197870538	45328835	46	30334											
FZD7	8324	genome.wustl.edu	37	chr2	202899887	202899887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacggctccgggggcccaGgcggcggccccactgcctac	4	3	16	18	5	0	0	0	0	0	0	1	1	1	1	5	7	2	1	5	7	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:202899887G>T	ENST00000286201.1	+	1	578	c.517G>T	c.(517-519)Ggc>Tgc	p.G173C	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	173					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGGGGGCCCAGGCGGCGGCCC	0.746											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													11	14	13					2																	202899887		2166	4250	6416	SO:0001583	missense	0			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"GPCR / Class F : Frizzled receptors"	4045	protein-coding gene	gene with protein product		603410	"frizzled (Drosophila) homolog 7", "frizzled homolog 7 (Drosophila)", "frizzled 7, seven transmembrane spanning receptor", "frizzled family receptor 7"			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.517G>T	2.37:g.202899887G>T	ENSP00000286201:p.Gly173Cys	2133	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.G173C	ENST00000286201.1	37	c.517	CCDS2351.1	2	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782048	0.49891	.	.	ENSG00000155760	ENST00000286201	T	0.76709	-1.04	5.46	5.46	0.80206	.	.	.	.	.	T	0.65883	0.2734	N	0.22421	0.69	0.42079	D	0.991247	D	0.56521	0.976	P	0.44447	0.45	T	0.69277	-0.5187	9	0.59425	D	0.04	.	8.3657	0.32385	0.0788:0.0:0.7654:0.1558	.	173	O75084	FZD7_HUMAN	C	173	ENSP00000286201:G173C	ENSP00000286201:G173C	G	+	1	0	FZD7	202608132	0.559000	0.26562	0.950000	0.38849	0.562000	0.35680	1.568000	0.36418	2.563000	0.86464	0.563000	0.77884	GGC	FZD7	-	NULL	ENSG00000155760		0.746	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD7	HGNC	protein_coding	OTTHUMT00000256314.1	-	0	74	0	G	NM_003507		202899887	1	tier1	-	no_errors	ENST00000286201	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.977	T	T	202899887	G	T	202899887	3	4	112	1	0	0	0	0	1	0	0	0	6159	1000	35	3	519	3	FZD7	2	202899887	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	5029349	202899887	40299486	47	30335											
INO80D	54891	genome.wustl.edu	37	chr2	206869439	206869439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatagggaagtggaaagaaGatgtccatctgcgccgagaa	14	6	15	6	2	1	3	0	0	1	3	2	7	2	6	2	3	1	0	2	3	5	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:206869439G>C	ENST00000403263.1	-	11	3141	c.2737C>G	c.(2737-2739)Ctt>Gtt	p.L913V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	736					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTGGAAAGAAGATGTCCATCT	0.577																																																	0													124	136	132					2																	206869439		2114	4212	6326	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"INO80 complex subunits"	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2737C>G	2.37:g.206869439G>C	ENSP00000384198:p.Leu913Val		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.L913V	ENST00000403263.1	37	c.2737	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728688	0.69074	.	.	ENSG00000114933	ENST00000403263	T	0.52754	0.65	5.84	5.84	0.93424	.	.	.	.	.	T	0.57784	0.2077	N	0.24115	0.695	0.58432	D	0.999997	D	0.67145	0.996	D	0.80764	0.994	T	0.55585	-0.8118	9	0.39692	T	0.17	.	20.1533	0.98095	0.0:0.0:1.0:0.0	.	913	Q53TQ3-2	.	V	913	ENSP00000384198:L913V	ENSP00000384198:L913V	L	-	1	0	INO80D	206577684	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.926000	0.92839	2.758000	0.94735	0.655000	0.94253	CTT	INO80D	-	NULL	ENSG00000114933		0.577	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1	-	0	64	0	G	NM_017759		206869439	-1	tier1	-	no_errors	ENST00000403263	ensembl	human	known	74_37	missense	11.94	59	8	SNP	1.000	C	C	206869439	G	C	206869439	3	2	112	1	0	0	0	0	1	0	0	0	7776	942	33	5	350	5	INO80D	2	206869439	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	3969552	206869439	36329934	48	30336											
KLF7	8609	genome.wustl.edu	37	chr2	207988643	207988643	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcactgtcgctctgtccActcttaacggcccccgcagc	5	10	9	17	3	3	0	1	0	2	0	5	0	4	0	3	2	2	2	3	2	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:207988643A>G	ENST00000309446.6	-	2	964	c.588T>C	c.(586-588)agT>agC	p.S196S	KLF7_ENST00000423015.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000421199.1_Silent_p.S163S|KLF7_ENST00000412414.2_Silent_p.S168S	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	196					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CGCTCTGTCCACTCTTAACGG	0.592																																																	0													59	62	61					2																	207988643		2203	4300	6503	SO:0001819	synonymous_variant	0			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.588T>C	2.37:g.207988643A>G			B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S196	ENST00000309446.6	37	c.588	CCDS2373.1	2																																																																																			KLF7	-	NULL	ENSG00000118263		0.592	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF7	HGNC	protein_coding	OTTHUMT00000256466.2	-	0	57	0	A	NM_003709		207988643	-1	tier1	-	no_errors	ENST00000309446	ensembl	human	known	74_37	silent	25.00	27	9	SNP	1.000	G	G	207988643	A	G	207988643	2	3	112	1	0	0	0	0	0	0	0	1	8378	156	6	4		4	KLF7	2	207988643	Silent	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	1119204	207988643	35210730	49	30337											
CPS1	1373	genome.wustl.edu	37	chr2	211541847	211541847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagtggaatccctctccTcactaattttcaggtatagt	10	15	7	9	0	3	1	2	1	1	0	5	2	4	2	2	2	0	1	2	2	5	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:211541847T>C	ENST00000233072.5	+	37	4587	c.4391T>C	c.(4390-4392)cTc>cCc	p.L1464P	CPS1_ENST00000430249.2_Missense_Mutation_p.L1470P|CPS1_ENST00000451903.2_Missense_Mutation_p.L1013P	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1464					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATCCCTCTCCTCACTAATTTT	0.398																																																	0													187	180	182					2																	211541847		2203	4300	6503	SO:0001583	missense	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"carbamoyl-phosphate synthetase 1, mitochondrial"				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4391T>C	2.37:g.211541847T>C	ENSP00000233072:p.Leu1464Pro		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.L1470P	ENST00000233072.5	37	c.4409	CCDS2393.1	2	.	.	.	.	.	.	.	.	.	.	T	19.64	3.866302	0.71949	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	T;T;T	0.80738	-1.41;-1.41;-1.41	5.66	5.66	0.87406	Methylglyoxal synthase-like domain (4);	0.062767	0.64402	D	0.000005	D	0.90363	0.6984	M	0.87456	2.885	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.65573	0.936;0.936	D	0.92082	0.5673	10	0.87932	D	0	-7.9673	15.8969	0.79341	0.0:0.0:0.0:1.0	.	1474;1464	Q59HF8;P31327	.;CPSM_HUMAN	P	1470;1472;1464;1013	ENSP00000402608:L1470P;ENSP00000233072:L1464P;ENSP00000406136:L1013P	ENSP00000233072:L1464P	L	+	2	0	CPS1	211250092	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.207000	0.77899	2.155000	0.67459	0.379000	0.24179	CTC	CPS1	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.398	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	-	0	67	0	T			211541847	1	tier1	-	no_errors	ENST00000430249	ensembl	human	known	74_37	missense	14.29	72	12	SNP	1.000	C	C	211541847	T	C	211541847	3	2	112	1	0	0	0	0	1	0	0	0	3830	1551	54	4	4559	4	CPS1	2	211541847	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	3553204	211541847	31657526	50	30338											
SLC11A1	6556	genome.wustl.edu	37	chr2	219259680	219259680	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgcccacggagccacCtttctggcccacagctccca	6	8	8	19	1	1	0	0	0	1	0	2	1	2	1	6	2	4	1	6	2	0	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:219259680C>A	ENST00000233202.6	+	15	1915	c.1575C>A	c.(1573-1575)acC>acA	p.T525T	SLC11A1_ENST00000539932.1_Silent_p.T407T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	525					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGAGCCACCTTTCTGGCCC	0.632																																																	0													52	39	43					2																	219259680		2203	4300	6503	SO:0001819	synonymous_variant	0			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"Solute carriers"	10907	protein-coding gene	gene with protein product	"natural resistance-associated macrophage protein 1"	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1575C>A	2.37:g.219259680C>A			C0H5Y3	Silent	SNP	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	p.T525	ENST00000233202.6	37	c.1575	CCDS2415.1	2																																																																																			SLC11A1	-	NULL	ENSG00000018280		0.632	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC11A1	HGNC	protein_coding	OTTHUMT00000195076.2	-	0	63	0	C	NM_000578		219259680	1	tier1	-	no_errors	ENST00000233202	ensembl	human	known	74_37	silent	11.11	56	7	SNP	0.000	A	A	219259680	C	A	219259680	2	1	112	1	0	0	0	0	0	0	0	1	14425	668	24	3		3	SLC11A1	2	219259680	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	7717833	219259680	23939693	51	30339											
DGKD	8527	genome.wustl.edu	37	chr2	234367025	234367025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgagtcatcaggctacaGcatcatcggatcgcccaggt	9	9	10	13	3	4	0	3	0	1	0	7	2	4	1	1	3	2	2	1	3	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr2:234367025G>A	ENST00000264057.2	+	22	2688	c.2676G>A	c.(2674-2676)caG>caA	p.Q892Q	DGKD_ENST00000409813.3_Silent_p.Q848Q	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	892					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TCAGGCTACAGCATCATCGGA	0.597																																																	0													110	83	92					2																	234367025		2203	4300	6503	SO:0001819	synonymous_variant	0			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing"	2851	protein-coding gene	gene with protein product	"diglyceride kinase"	601826	"diacylglycerol kinase, delta (130kD)"			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2676G>A	2.37:g.234367025G>A			Q14158|Q6PK55|Q8NG53	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.Q892	ENST00000264057.2	37	c.2676	CCDS2504.1	2																																																																																			DGKD	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000077044		0.597	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	HGNC	protein_coding	OTTHUMT00000257072.2	-	0	32	0	G	NM_003648		234367025	1	tier1	-	no_errors	ENST00000264057	ensembl	human	known	74_37	silent	9.30	39	4	SNP	1.000	A	A	234367025	G	A	234367025	2	1	112	1	0	0	0	0	0	0	0	1	4481	962	34	3		3	DGKD	2	234367025	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	15107345	234367025	8832348	52	30340											
GLB1	2720	genome.wustl.edu	37	chr3	33060008	33060008	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagaggtgctgggttgcTgcaatcttgaggaagtgttg	9	11	17	4	0	1	3	0	1	1	2	1	5	1	4	0	3	3	5	0	3	2	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr3:33060008T>G	ENST00000399402.3	-	13	1320	c.1189A>C	c.(1189-1191)Agc>Cgc	p.S397R	GLB1_ENST00000307363.5_Missense_Mutation_p.S427R|GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.S475R|GLB1_ENST00000307377.8_Missense_Mutation_p.S296R	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	427			P -> A (in MPS4B; 24.0% of wild-type enzyme activity). {ECO:0000269|PubMed:19472408}.		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GCTGGGTTGCTGCAATCTTGA	0.443																																																	0													170	167	168					3																	33060008		1972	4162	6134	SO:0001583	missense	0			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"elastin receptor 1, 67kDa", "elastin receptor 1 (67kD)"	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1189A>C	3.37:g.33060008T>G	ENSP00000382333:p.Ser397Arg		B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.S475R	ENST00000399402.3	37	c.1423	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	T	7.316	0.616011	0.14129	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	4.94	3.79	0.43588	.	0.410133	0.31554	N	0.007444	D	0.90820	0.7117	M	0.69823	2.125	0.41152	D	0.986033	B;B;B;B	0.32467	0.172;0.372;0.172;0.172	B;B;B;B	0.22601	0.015;0.04;0.015;0.039	D	0.86139	0.1580	10	0.15499	T	0.54	-16.2654	9.5775	0.39468	0.0:0.0838:0.0:0.9162	.	427;296;427;475	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	R	397;427;475;296	ENSP00000382333:S397R;ENSP00000306920:S427R;ENSP00000393377:S475R;ENSP00000305920:S296R	ENSP00000306920:S427R	S	-	1	0	GLB1	33035012	0.992000	0.36948	0.656000	0.29637	0.345000	0.29048	2.022000	0.41030	0.926000	0.37118	0.477000	0.44152	AGC	GLB1	-	NULL	ENSG00000170266		0.443	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	-	0	92	0	T	NM_000404		33060008	-1	tier1	-	no_errors	ENST00000445488	ensembl	human	known	74_37	missense	22.54	55	16	SNP	0.995	G	G	33060008	T	G	33060008	3	3	112	1	0	0	0	0	1	0	0	0	6453	1580	55	4	770	4	GLB1	3	33060008	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09		33060008	164962422	53	30341											
LAMB2	3913	genome.wustl.edu	37	chr3	49166737	49166737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcagccgagcaggtcgtgGctcaggccccagtggccagg	6	4	17	14	3	1	0	1	0	0	0	2	1	1	0	4	6	2	3	4	6	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr3:49166737G>T	ENST00000418109.1	-	13	1703	c.1539C>A	c.(1537-1539)agC>agA	p.S513R	LAMB2_ENST00000305544.4_Missense_Mutation_p.S513R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	513	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGGTCGTGGCTCAGGCCCC	0.622																																																	0													32	36	35					3																	49166737		2203	4300	6503	SO:0001583	missense	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"Laminins"	6487	protein-coding gene	gene with protein product	"laminin S"	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1539C>A	3.37:g.49166737G>T	ENSP00000388325:p.Ser513Arg		Q16321	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S513R	ENST00000418109.1	37	c.1539	CCDS2789.1	3	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050131	0.55218	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.61627	0.09;0.09	5.06	3.14	0.36123	EGF-like, laminin (4);	0.047266	0.85682	D	0.000000	T	0.69477	0.3115	M	0.72624	2.21	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.70267	-0.4919	10	0.54805	T	0.06	.	9.4349	0.38632	0.0754:0.0:0.7821:0.1425	.	513	P55268	LAMB2_HUMAN	R	513	ENSP00000388325:S513R;ENSP00000307156:S513R	ENSP00000307156:S513R	S	-	3	2	LAMB2	49141741	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	2.979000	0.49313	1.115000	0.41800	-0.150000	0.13652	AGC	LAMB2	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000172037		0.622	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	-	0	22	0	G	NM_002292		49166737	-1	tier1	-	no_errors	ENST00000305544	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	T	T	49166737	G	T	49166737	3	4	112	1	0	0	0	0	1	0	0	0	8639	1194	42	3	3941	3	LAMB2	3	49166737	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	16106729	49166737	148855693	54	30342											
TRAIP	10293	genome.wustl.edu	37	chr3	49867177	49867177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctctcctgcacagctctggCcacccagtgagagctgggac	7	7	12	15	0	2	1	0	1	2	1	3	3	2	2	3	2	3	4	3	2	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr3:49867177C>T	ENST00000331456.2	-	13	1222	c.1109G>A	c.(1108-1110)gGc>gAc	p.G370D	TRAIP_ENST00000469027.1_Missense_Mutation_p.G215D	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	370	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAGCTCTGGCCACCCAGTGA	0.582																																																	0													38	39	38					3																	49867177		2203	4300	6503	SO:0001583	missense	0			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"RING-type (C3HC4) zinc fingers"	30764	protein-coding gene	gene with protein product	"ring finger protein 206"	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1109G>A	3.37:g.49867177C>T	ENSP00000328203:p.Gly370Asp		B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.G370D	ENST00000331456.2	37	c.1109	CCDS2806.1	3	.	.	.	.	.	.	.	.	.	.	C	6.867	0.529382	0.13127	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.43688	0.94	5.21	3.37	0.38596	.	0.477402	0.23377	N	0.048852	T	0.27349	0.0671	L	0.31294	0.92	0.23445	N	0.997666	B;B	0.21309	0.053;0.054	B;B	0.20767	0.028;0.031	T	0.18999	-1.0319	10	0.09590	T	0.72	-22.3962	11.0596	0.47940	0.0:0.8324:0.0:0.1676	.	370;370	A8K807;Q9BWF2	.;TRAIP_HUMAN	D	370;215	ENSP00000420085:G215D	ENSP00000328203:G370D	G	-	2	0	TRAIP	49842181	0.974000	0.33945	0.989000	0.46669	0.582000	0.36321	1.023000	0.30065	0.787000	0.33731	-0.797000	0.03246	GGC	TRAIP	-	NULL	ENSG00000183763		0.582	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1		0	32	0	C	NM_005879		49867177	-1			no_errors	ENST00000331456	ensembl	human	known	74_37	missense	18.75	13	3	SNP	0.972	T	T	49867177	C	T	49867177	3	4	112	1	0	0	0	0	1	0	0	0	16496	739	26	3	312	3	TRAIP	3	49867177	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	700440	49867177	148155253	55	30343											
DOCK3	1795	genome.wustl.edu	37	chr3	50927459	50927459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atattttctcttttacagggGatctttcctgcaaattacat	10	18	5	8	0	2	0	0	0	2	0	4	1	3	1	1	2	3	1	1	2	4	7			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr3:50927459G>A	ENST00000266037.9	+	4	188	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	55	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTTACAGGGGATCTTTCCTG	0.299																																																	0													89	76	80					3																	50927459		692	1585	2277	SO:0001819	synonymous_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"dedicator of cyto-kinesis 3"			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.165G>A	3.37:g.50927459G>A			O15017	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.G55	ENST00000266037.9	37	c.165	CCDS46835.1	3																																																																																			DOCK3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000088538		0.299	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0	48	0	G	NM_004947		50927459	1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	silent	36.17	29	17	SNP	1.000	A	A	50927459	G	A	50927459	2	1	112	1	0	0	0	0	0	0	0	1	4702	1161	41	3		3	DOCK3	3	50927459	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1060282	50927459	147094971	56	30344											
ATG3	64422	genome.wustl.edu	37	chr3	112253120	112253120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacagggaaggatacatatGaactccaagttctccccctc	13	9	7	12	0	1	1	0	1	1	0	4	3	2	3	3	2	3	1	3	2	6	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr3:112253120G>A	ENST00000283290.5	-	11	1293	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ATG3_ENST00000495756.1_5'Flank|ATG3_ENST00000402314.2_Missense_Mutation_p.H287Y	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	287					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						GGATACATATGAACTCCAAGT	0.343																																																	0													128	111	117					3																	112253120		2203	4300	6503	SO:0001583	missense	0				CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"APG3 autophagy 3-like (S. cerevisiae)", "ATG3 autophagy related 3 homolog (S. cerevisiae)"	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.859C>T	3.37:g.112253120G>A	ENSP00000283290:p.His287Tyr		Q6PKC5|Q9H6L9	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C	p.H287Y	ENST00000283290.5	37	c.859	CCDS2966.1	3	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993663	0.74703	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.95	5.95	0.96441	Autophagy-related protein 3, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77116	0.4083	M	0.71206	2.165	0.80722	D	1	B;B	0.31485	0.179;0.325	B;B	0.44224	0.33;0.444	T	0.75468	-0.3307	9	0.62326	D	0.03	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	287;287	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	Y	287	.	ENSP00000283290:H287Y	H	-	1	0	ATG3	113735810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.827000	0.97445	0.650000	0.86243	CAT	ATG3	-	pfam_Autophagy-rel_prot_3_C	ENSG00000144848		0.343	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG3	HGNC	protein_coding	OTTHUMT00000354147.1	-	0	64	0	G	NM_022488		112253120	-1	tier1	-	no_errors	ENST00000283290	ensembl	human	known	74_37	missense	25.23	80	27	SNP	1.000	A	A	112253120	G	A	112253120	3	1	112	1	0	0	0	0	1	0	0	0	1096	1290	45	3	93	3	ATG3	3	112253120	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	61325661	112253120	85769310	57	30345											
WDR52	55779	genome.wustl.edu	37	chr3	113025140	113025140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtccagccttttctctcGaaggtgaagggccagctcaa	10	10	10	11	1	2	1	1	1	1	0	5	2	3	1	3	2	2	1	3	2	4	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr3:113025140G>A	ENST00000393845.2	-	30	4732	c.4666C>T	c.(4666-4668)Cga>Tga	p.R1556*	WDR52_ENST00000308346.6_Nonsense_Mutation_p.R159*	NM_001164496.1	NP_001157968.1														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTTCTCTCGAAGGTGAAGG	0.363																																																	0													177	142	152					3																	113025140		692	1591	2283	SO:0001587	stop_gained	0																														ENST00000393845.2:c.4666C>T	3.37:g.113025140G>A	ENSP00000377428:p.Arg1556*			Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1556*	ENST00000393845.2	37	c.4666	CCDS54624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.978179|10.978179	0.99498|0.99498	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000393845;ENST00000308346|ENST00000465636	.|.	.|.	.|.	5.84|5.84	4.95|4.95	0.65309|0.65309	.|.	0.123680|.	0.56097|.	D|.	0.000031|.	.|T	.|0.65228	.|0.2671	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70992	.|-0.4721	.|3	0.02654|.	T|.	1|.	-5.4781|-5.4781	14.249|14.249	0.66007|0.66007	0.0:0.0:0.7291:0.2709|0.0:0.0:0.7291:0.2709	.|.	.|.	.|.	.|.	X|L	1556;159|692	.|.	ENSP00000311497:R159X|.	R|S	-|-	1|2	2|0	WDR52|WDR52	114507830|114507830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.902000|0.902000	0.53008|0.53008	2.567000|2.567000	0.45956|0.45956	1.445000|1.445000	0.47624|0.47624	0.591000|0.591000	0.81541|0.81541	CGA|TCG	WDR52	-	superfamily_ARM-type_fold	ENSG00000206530		0.363	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR52	HGNC	protein_coding		-	0	94	0	G			113025140	-1	tier1	-	no_errors	ENST00000393845	ensembl	human	known	74_37	nonsense	14.16	97	16	SNP	1.000	A	A	113025140	G	A	113025140	4	1	112	1	0	0	0	0	0	1	0	0	17353	1066	37	1	922	1	WDR52	3	113025140	Nonsense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	772020	113025140	84997290	58	30346											
ESYT3	83850	genome.wustl.edu	37	chr3	138183220	138183220	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacttgctggaggcagagCagctggcccagaaggacaac	11	5	14	11	0	0	2	0	0	0	2	0	4	0	4	1	4	5	5	1	4	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr3:138183220C>T	ENST00000389567.4	+	9	1135	c.949C>T	c.(949-951)Cag>Tag	p.Q317*		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	317	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGAGGCAGAGCAGCTGGCCCA	0.582																																																	0													65	63	64					3																	138183220		2203	4300	6503	SO:0001587	stop_gained	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"Synaptotagmins"	24295	protein-coding gene	gene with protein product			"family with sequence similarity 62 (C2 domain containing), member C"	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.949C>T	3.37:g.138183220C>T	ENSP00000374218:p.Gln317*		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom	p.Q317*	ENST00000389567.4	37	c.949	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457095	0.84317	.	.	ENSG00000158220	ENST00000389567	.	.	.	4.78	-0.27	0.12926	.	0.605324	0.17749	N	0.163289	.	.	.	.	.	.	0.22489	N	0.999056	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-14.4777	4.877	0.13662	0.4766:0.1673:0.3562:0.0	.	.	.	.	X	317	.	ENSP00000374218:Q317X	Q	+	1	0	ESYT3	139665910	0.112000	0.22096	0.042000	0.18584	0.827000	0.46813	0.528000	0.23002	-0.180000	0.10637	-1.478000	0.00992	CAG	ESYT3	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000158220		0.582	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	-	0	37	0	C	NM_031913		138183220	1	tier1	-	no_errors	ENST00000389567	ensembl	human	known	74_37	nonsense	18.92	30	7	SNP	0.068	T	T	138183220	C	T	138183220	4	4	112	1	0	0	0	0	0	1	0	0	5282	711	25	3	983	3	ESYT3	3	138183220	Nonsense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	25158080	138183220	59839210	59	30347											
UGDH	7358	genome.wustl.edu	37	chr4	39501789	39501789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaggtttcttgttaggtgGatcttgaagactaaacttcg	9	17	10	5	1	2	2	0	1	2	1	3	3	2	3	0	3	1	2	0	3	5	8			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr4:39501789G>T	ENST00000316423.6	-	12	1801	c.1459C>A	c.(1459-1461)Cca>Aca	p.P487T	UGDH_ENST00000506179.1_Missense_Mutation_p.P487T|UGDH_ENST00000501493.2_Missense_Mutation_p.P420T|UGDH_ENST00000507089.1_Missense_Mutation_p.P390T	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	487					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTGTTAGGTGGATCTTGAAGA	0.303																																																	0													76	76	76					4																	39501789		2203	4299	6502	SO:0001583	missense	0			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"UDP-glucose dehydrogenase"			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1459C>A	4.37:g.39501789G>T	ENSP00000319501:p.Pro487Thr		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man	p.P487T	ENST00000316423.6	37	c.1459	CCDS3455.1	4	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921918	0.52653	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	D;T;D;D	0.82167	-1.58;-1.01;-1.58;-1.58	5.88	4.14	0.48551	.	0.156556	0.64402	D	0.000017	T	0.68403	0.2997	N	0.08118	0	0.47308	D	0.999388	B;B	0.29432	0.244;0.079	B;B	0.24541	0.054;0.014	T	0.66559	-0.5893	10	0.62326	D	0.03	-8.2129	15.1928	0.73060	0.0:0.0:0.7908:0.2091	.	420;487	B3KUU2;O60701	.;UGDH_HUMAN	T	487;420;487;390	ENSP00000319501:P487T;ENSP00000422909:P420T;ENSP00000421757:P487T;ENSP00000426560:P390T	ENSP00000319501:P487T	P	-	1	0	UGDH	39178184	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.551000	0.60740	0.803000	0.34113	0.655000	0.94253	CCA	UGDH	-	NULL	ENSG00000109814		0.303	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3	-	0	95	0	G	NM_003359		39501789	-1	tier1	-	no_errors	ENST00000316423	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T	T	39501789	G	T	39501789	3	4	112	1	0	0	0	0	1	0	0	0	16989	1174	41	3	29	3	UGDH	4	39501789	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		39501789	151652487	60	30348											
LRRC66	339977	genome.wustl.edu	37	chr4	52861261	52861261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcgcttcctcagcccttgCcccggacagccttggctgct	5	9	10	17	2	1	0	1	0	0	0	2	1	2	1	5	2	5	3	5	2	1	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr4:52861261C>T	ENST00000343457.3	-	4	1933	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	643						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCAGCCCTTGCCCCGGACAGC	0.527																																																	0													71	70	70					4																	52861261		2008	4175	6183	SO:0001583	missense	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1927G>A	4.37:g.52861261C>T	ENSP00000341944:p.Ala643Thr			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A643T	ENST00000343457.3	37	c.1927	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975852	0.34848	.	.	ENSG00000188993	ENST00000343457	T	0.32753	1.44	4.26	-0.513	0.11962	.	0.970350	0.08456	N	0.943152	T	0.16214	0.0390	L	0.27053	0.805	0.09310	N	1	B	0.30584	0.286	B	0.21546	0.035	T	0.23691	-1.0181	10	0.25751	T	0.34	0.6888	4.223	0.10567	0.1565:0.4721:0.0:0.3713	.	643	Q68CR7	LRC66_HUMAN	T	643	ENSP00000341944:A643T	ENSP00000341944:A643T	A	-	1	0	LRRC66	52556018	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.398000	0.02509	-0.040000	0.13580	0.491000	0.48974	GCA	LRRC66	-	NULL	ENSG00000188993		0.527	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	-	0	42	0	C	NM_001024611		52861261	-1	tier1	-	no_errors	ENST00000343457	ensembl	human	known	74_37	missense	23.40	36	11	SNP	0.000	T	T	52861261	C	T	52861261	3	4	112	1	0	0	0	0	1	0	0	0	9053	739	26	3	719	3	LRRC66	4	52861261	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	13359472	52861261	138293015	61	30349											
PKD2	5311	genome.wustl.edu	37	chr4	88929174	88929176	+	In_Frame_Del	DEL	GAG	GAG	-																															ataaccccggcttcgaggccGaggaggaggaggaggaggtg																										TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr4:88929174_88929176delGAG	ENST00000237596.2	+	1	355_357	c.289_291delGAG	c.(289-291)gagdel	p.E102del		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTCGAGGCCgaggaggaggagg	0.739																																																	0										18,82,2250		6,0,6,18,46,1099						-3.4	0.9			2	8,117,4707		2,0,4,14,89,2307	no	codingComplex	PKD2	NM_000297.3		8,0,10,32,135,3406	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5869,4.2553,3.1328				26,199,6957				SO:0001651	inframe_deletion	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"Voltage-gated ion channels / Transient receptor potential cation channels", "EF-hand domain containing"	9009	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 2"	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.289_291delGAG	4.37:g.88929183_88929185delGAG	ENSP00000237596:p.Glu102del		Q8TB08|Q9P0T6|Q9Y3X8	In_Frame_Del	DEL	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.E100in_frame_del	ENST00000237596.2	37	c.289_291	CCDS3627.1	4																																																																																			PKD2	-	NULL	ENSG00000118762		0.739	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000253042.4		0	30	0	GAG	NM_000297		88929176	1	tier1		no_errors	ENST00000237596	ensembl	human	known	74_37	in_frame_del	10.26	35	4	DEL	1.000:1.000:1.000	-	-	88929176	GAG	-	88929174	7	5	112	1	0	1	0	1	0	0	0	0	12005	1059	37	0	291	0	PKD2	4	88929174	In_Frame_Del	DEL	GAG	TCGA-LN-A4A2-01A-31D-A27G-09	36067913	88929174	102225102	62	30350											
ANKRD50	57182	genome.wustl.edu	37	chr4	125631531	125631531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggtgcattgacagcacTattgcagcagttacttttct	9	15	9	8	0	1	2	0	2	1	0	1	2	1	2	0	1	5	5	0	1	2	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr4:125631531T>C	ENST00000504087.1	-	2	1173	c.136A>G	c.(136-138)Agt>Ggt	p.S46G	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	46										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTGACAGCACTATTGCAGCAG	0.488																																																	0													99	97	98					4																	125631531		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"Ankyrin repeat domain containing"	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.136A>G	4.37:g.125631531T>C	ENSP00000425658:p.Ser46Gly		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S46G	ENST00000504087.1	37	c.136	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856657	0.32791	.	.	ENSG00000151458	ENST00000504087	T	0.16897	2.31	5.23	2.63	0.31362	.	0.000000	0.64402	D	0.000001	T	0.09512	0.0234	N	0.12182	0.205	0.36055	D	0.841005	B	0.02656	0.0	B	0.01281	0.0	T	0.11717	-1.0576	10	0.51188	T	0.08	.	10.1941	0.43043	0.0:0.1406:0.0:0.8594	.	46	Q9ULJ7	ANR50_HUMAN	G	46	ENSP00000425658:S46G	ENSP00000425658:S46G	S	-	1	0	ANKRD50	125850981	0.960000	0.32886	0.461000	0.27105	0.980000	0.70556	2.737000	0.47393	0.963000	0.38082	0.459000	0.35465	AGT	ANKRD50	-	superfamily_P-loop_NTPase	ENSG00000151458		0.488	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0	73	0	T	NM_020337		125631531	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	20.83	38	10	SNP	0.327	C	C	125631531	T	C	125631531	3	2	112	1	0	0	0	0	1	0	0	0	677	1522	53	4	4165	4	ANKRD50	4	125631531	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	36702357	125631531	65522745	63	30351											
MFSD8	256471	genome.wustl.edu	37	chr4	128864988	128864988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggagatatgcatagaGgcagttggctgccacggaaa	12	8	15	6	1	0	2	0	0	0	2	0	5	0	3	1	4	2	4	1	4	3	3	rs144845312		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr4:128864988G>T	ENST00000296468.3	-	5	485	c.358C>A	c.(358-360)Ctc>Atc	p.L120I	MFSD8_ENST00000541133.1_Missense_Mutation_p.L75I|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.L75I	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	120					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)		p.L120F(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TATGCATAGAGGCAGTTGGCT	0.413																																																	1	Substitution - Missense(1)	skin(1)											107	103	104					4																	128864988		2203	4300	6503	SO:0001583	missense	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"ceroid-lipofuscinosis, neuronal 7, late infantile, variant"	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.358C>A	4.37:g.128864988G>T	ENSP00000296468:p.Leu120Ile		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L120I	ENST00000296468.3	37	c.358	CCDS3736.1	4	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654316	0.29425	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	T;T;T	0.61510	0.1;0.1;0.1	5.16	4.31	0.51392	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.132695	0.52532	D	0.000072	T	0.60353	0.2262	L	0.33137	0.985	0.33676	D	0.611498	P;D;D	0.57899	0.776;0.981;0.962	P;P;P	0.60117	0.536;0.869;0.78	T	0.65660	-0.6114	10	0.20519	T	0.43	-10.3949	14.0775	0.64900	0.0736:0.0:0.9264:0.0	.	75;120;120	B7Z2B2;B7Z280;Q8NHS3	.;.;MFSD8_HUMAN	I	120;75;75	ENSP00000296468:L120I;ENSP00000425000:L75I;ENSP00000439616:L75I	ENSP00000296468:L120I	L	-	1	0	MFSD8	129084438	1.000000	0.71417	0.996000	0.52242	0.513000	0.34164	5.261000	0.65496	1.150000	0.42419	0.551000	0.68910	CTC	MFSD8	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.413	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1		0	36	0	G	NM_152778		128864988	-1			no_errors	ENST00000296468	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T	T	128864988	G	T	128864988	3	4	112	1	0	0	0	0	1	0	0	0	9576	1000	35	3	1234	3	MFSD8	4	128864988	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	3233457	128864988	62289288	64	30352											
SPOCK3	50859	genome.wustl.edu	37	chr4	167656208	167656208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcatgaaaatcgccaCtagcaaaatctccggagatc	14	9	6	12	2	2	2	1	1	1	1	6	3	3	2	3	1	1	1	3	1	5	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr4:167656208C>G	ENST00000357154.3	-	12	1312	c.1175G>C	c.(1174-1176)aGt>aCt	p.S392T	SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Missense_Mutation_p.S349T|SPOCK3_ENST00000535728.1_Missense_Mutation_p.S260T|SPOCK3_ENST00000511269.1_Missense_Mutation_p.S389T|SPOCK3_ENST00000506886.1_Missense_Mutation_p.S392T|SPOCK3_ENST00000511531.1_Missense_Mutation_p.S392T|SPOCK3_ENST00000357545.4_Missense_Mutation_p.S389T|SPOCK3_ENST00000534949.1_Missense_Mutation_p.S296T|SPOCK3_ENST00000541637.1_Missense_Mutation_p.S294T|SPOCK3_ENST00000541354.1_Missense_Mutation_p.S272T|SPOCK3_ENST00000421836.2_Missense_Mutation_p.S341T|SPOCK3_ENST00000504953.1_Missense_Mutation_p.S389T|SPOCK3_ENST00000512681.1_Missense_Mutation_p.S294T|SPOCK3_ENST00000502330.1_Missense_Mutation_p.S392T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	392					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		aaaatcgccactagcaaaatc	0.333																																																	0													131	125	127					4																	167656208		2203	4300	6503	SO:0001583	missense	0			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1175G>C	4.37:g.167656208C>G	ENSP00000349677:p.Ser392Thr		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.S392T	ENST00000357154.3	37	c.1175	CCDS54817.1	4	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457889	0.43634	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48522	1.36;1.36;1.36;1.36;1.36;1.36;1.41;1.3;0.81;1.36;1.4;1.16;0.81;1.06	5.14	5.14	0.70334	.	0.179666	0.64402	D	0.000016	T	0.67711	0.2922	M	0.72576	2.205	0.45118	D	0.998132	D;D;D;D;D;D;D	0.89917	0.986;0.986;1.0;0.982;0.982;0.99;0.982	D;P;D;D;D;D;D	0.87578	0.965;0.827;0.998;0.952;0.952;0.979;0.952	T	0.70691	-0.4802	10	0.72032	D	0.01	-9.9103	15.2763	0.73745	0.0:0.8592:0.1407:0.0	.	294;296;341;401;349;389;392	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	T	392;389;389;392;392;392;349;272;294;389;260;341;294;296	ENSP00000349677:S392T;ENSP00000350153:S389T;ENSP00000425570:S389T;ENSP00000420920:S392T;ENSP00000423421:S392T;ENSP00000423606:S392T;ENSP00000426716:S349T;ENSP00000444789:S272T;ENSP00000426318:S294T;ENSP00000425502:S389T;ENSP00000441396:S260T;ENSP00000411344:S341T;ENSP00000445430:S294T;ENSP00000438142:S296T	ENSP00000349677:S392T	S	-	2	0	SPOCK3	167892783	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	3.783000	0.55409	2.561000	0.86390	0.637000	0.83480	AGT	SPOCK3	-	NULL	ENSG00000196104		0.333	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	-	0	62	0	C			167656208	-1	tier1	-	no_errors	ENST00000357154	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	G	G	167656208	C	G	167656208	3	3	112	1	0	0	0	0	1	0	0	0	15128	565	20	5	139	5	SPOCK3	4	167656208	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	38791220	167656208	23498068	65	30353											
FASTKD3	79072	genome.wustl.edu	37	chr5	7867383	7867383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttaaaaatgtttggtgttCatccactttttcagtacatg	11	18	6	6	0	2	0	2	0	0	0	3	0	3	0	1	1	1	3	1	1	4	7			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:7867383C>T	ENST00000264669.5	-	2	950	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	272					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTTGGTGTTCATCCACTTTT	0.368																																																	0													84	94	91					5																	7867383		2202	4300	6502	SO:0001583	missense	0			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.814G>A	5.37:g.7867383C>T	ENSP00000264669:p.Glu272Lys		Q9BVD3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.E272K	ENST00000264669.5	37	c.814	CCDS3873.1	5	.	.	.	.	.	.	.	.	.	.	C	1.282	-0.609978	0.03690	.	.	ENSG00000124279	ENST00000264669	T	0.12984	2.63	4.85	-0.527	0.11909	.	0.367362	0.31697	N	0.007216	T	0.03608	0.0103	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44097	-0.9350	10	0.05959	T	0.93	-0.3888	9.7752	0.40614	0.0:0.3451:0.3054:0.3495	.	272	Q14CZ7	FAKD3_HUMAN	K	272	ENSP00000264669:E272K	ENSP00000264669:E272K	E	-	1	0	FASTKD3	7920383	0.119000	0.22226	0.000000	0.03702	0.535000	0.34838	0.680000	0.25306	-0.323000	0.08602	-0.171000	0.13296	GAA	FASTKD3	-	NULL	ENSG00000124279		0.368	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	HGNC	protein_coding	OTTHUMT00000253673.1		0	24	0	C	NM_024091		7867383	-1			no_errors	ENST00000264669	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.006	T	T	7867383	C	T	7867383	3	4	112	1	0	0	0	0	1	0	0	0	5709	835	29	3	1198	3	FASTKD3	5	7867383	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		7867383	173047877	66	30354											
PRDM9	56979	genome.wustl.edu	37	chr5	23527403	23527403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaataagtcacacctcCtcagacaccagaggacacac	15	6	6	14	0	2	2	2	0	0	2	3	3	3	3	3	1	1	1	3	1	3	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:23527403C>A	ENST00000296682.3	+	11	2388	c.2206C>A	c.(2206-2208)Ctc>Atc	p.L736I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	736					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCACACCTCCTCAGACACCA	0.587										HNSCC(3;0.000094)																																							0													19	22	21					5																	23527403		2036	4142	6178	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2206C>A	5.37:g.23527403C>A	ENSP00000296682:p.Leu736Ile		B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L736I	ENST00000296682.3	37	c.2206	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.106164	0.00033	.	.	ENSG00000164256	ENST00000296682	T	0.19105	2.17	3.0	-3.9	0.04181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05914	0.0154	N	0.03930	-0.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39143	-0.9628	9	0.02654	T	1	.	5.9235	0.19096	0.2102:0.5151:0.0:0.2747	.	736	Q9NQV7	PRDM9_HUMAN	I	736	ENSP00000296682:L736I	ENSP00000296682:L736I	L	+	1	0	PRDM9	23563160	0.000000	0.05858	0.014000	0.15608	0.003000	0.03518	-3.971000	0.00322	-0.720000	0.04935	-0.347000	0.07816	CTC	PRDM9	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164256		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	-	0	78	0	C	NM_020227		23527403	1	tier1	-	no_errors	ENST00000296682	ensembl	human	known	74_37	missense	18.18	63	14	SNP	0.002	A	A	23527403	C	A	23527403	3	1	112	1	0	0	0	0	1	0	0	0	12505	681	24	3	2244	3	PRDM9	5	23527403	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	15660020	23527403	157387857	67	30355											
CDH10	1008	genome.wustl.edu	37	chr5	24535839	24535839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggctccacagagaaataggGctgcccttgaagtatgctgt	11	9	12	9	0	0	2	0	1	0	1	1	3	1	2	2	2	2	4	2	2	4	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:24535839G>T	ENST00000264463.4	-	4	1126	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	207	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P207S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAGAAATAGGGCTGCCCTTGA	0.448										HNSCC(23;0.051)																																							1	Substitution - Missense(1)	skin(1)											127	117	120					5																	24535839		2203	4300	6503	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"Cadherins / Major cadherins"	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.619C>A	5.37:g.24535839G>T	ENSP00000264463:p.Pro207Thr		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P207T	ENST00000264463.4	37	c.619	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	G	24.2	4.508073	0.85282	.	.	ENSG00000040731	ENST00000264463	T	0.01665	4.7	6.17	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.047638	0.85682	D	0.000000	T	0.05547	0.0146	L	0.28192	0.835	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.49244	-0.8960	10	0.87932	D	0	.	14.6	0.68435	0.0693:0.0:0.9307:0.0	.	207	Q9Y6N8	CAD10_HUMAN	T	207	ENSP00000264463:P207T	ENSP00000264463:P207T	P	-	1	0	CDH10	24571596	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.841000	0.99482	1.621000	0.50320	0.655000	0.94253	CCC	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.448	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0	41	0	G	NM_006727		24535839	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	T	T	24535839	G	T	24535839	3	4	112	1	0	0	0	0	1	0	0	0	3103	1203	42	3	1783	3	CDH10	5	24535839	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1008436	24535839	156379421	68	30356											
ACTBL2	345651	genome.wustl.edu	37	chr5	56777529	56777529	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatccaaacagaatacttccGctctgggggagctatgatct	12	10	9	10	1	2	2	0	1	2	1	4	3	4	3	2	2	3	2	2	2	5	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:56777529G>T	ENST00000423391.1	-	1	1107	c.1006C>A	c.(1006-1008)Cgg>Agg	p.R336R	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAATACTTCCGCTCTGGGGGA	0.517																																																	0													90	89	89					5																	56777529		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.1006C>A	5.37:g.56777529G>T			B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R336	ENST00000423391.1	37	c.1006	CCDS34163.1	5																																																																																			ACTBL2	-	pfam_Actin-related,smart_Actin-related	ENSG00000169067		0.517	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	HGNC	protein_coding	OTTHUMT00000368579.1		0	79	0	G	NM_001017992		56777529	-1			no_errors	ENST00000423391	ensembl	human	known	74_37	silent	5.17	55	3	SNP	1.000	T	T	56777529	G	T	56777529	2	4	112	1	0	0	0	0	0	0	0	1	194	1086	38	2		2	ACTBL2	5	56777529	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	32241690	56777529	124137731	69	30357											
SLCO4C1	353189	genome.wustl.edu	37	chr5	101583042	101583042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaggaatatgggcagtttCgcacaatgagtttcacattt	13	12	9	7	1	1	1	1	1	0	0	2	2	1	2	0	2	0	4	0	2	4	4	rs574597658		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:101583042C>T	ENST00000310954.6	-	10	2011	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGGCAGTTTCGCACAATGAG	0.353													C|||	1	0.000199681	0	0	5008	,	,		18979	0		0	False		,,,				2504	0.001																0													122	131	128					5																	101583042		2203	4300	6503	SO:0001819	synonymous_variant	0			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"Solute carriers"	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1725G>A	5.37:g.101583042C>T				Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.A575	ENST00000310954.6	37	c.1725	CCDS34205.1	5																																																																																			SLCO4C1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000173930		0.353	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4C1	HGNC	protein_coding	OTTHUMT00000370332.1	-	0	76	0	C	NM_180991		101583042	-1	tier1	-	no_errors	ENST00000310954	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.000	T	T	101583042	C	T	101583042	2	4	112	1	0	0	0	0	0	0	0	1	14775	871	31	1		1	SLCO4C1	5	101583042	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	44805513	101583042	79332218	70	30358											
DMXL1	1657	genome.wustl.edu	37	chr5	118576136	118576136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtatgtttgtgggatactCttgtagcacctgccaatagt	9	14	10	8	1	1	0	0	0	1	0	1	1	1	1	2	1	3	4	2	1	5	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:118576136C>T	ENST00000311085.8	+	41	8691	c.8611C>T	c.(8611-8613)Ctt>Ttt	p.L2871F	DMXL1_ENST00000539542.1_Missense_Mutation_p.L2892F|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2871										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTGGGATACTCTTGTAGCACC	0.289																																																	0													78	88	84					5																	118576136		2201	4299	6500	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"WD repeat domain containing"	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8611C>T	5.37:g.118576136C>T	ENSP00000309690:p.Leu2871Phe			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2892F	ENST00000311085.8	37	c.8674	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338837	0.81911	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.01323	5.01;5.01	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.08223	0.0205	M	0.75615	2.305	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00491	-1.1708	10	0.87932	D	0	-14.1446	14.3471	0.66675	0.0:0.9263:0.0:0.0737	.	2892;2871	F5H269;Q9Y485	.;DMXL1_HUMAN	F	2871;2892	ENSP00000309690:L2871F;ENSP00000439479:L2892F	ENSP00000309690:L2871F	L	+	1	0	DMXL1	118604035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.224000	0.51238	2.512000	0.84698	0.650000	0.86243	CTT	DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.289	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	-	0	39	0	C	NM_005509		118576136	1	tier1	-	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	T	T	118576136	C	T	118576136	3	4	112	1	0	0	0	0	1	0	0	0	4608	913	32	3	8773	3	DMXL1	5	118576136	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	16993094	118576136	62339124	71	30359											
RNF145	153830	genome.wustl.edu	37	chr5	158630641	158630642	+	5'UTR	INS	-	-	T																															ccatgttgtttttttttttcINStttttttttttcttggagaa																								rs74770414|rs202186112|rs74841177|rs368977591		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:158630641_158630642insT	ENST00000424310.2	-	0	343_344				RNF145_ENST00000274542.2_Frame_Shift_Ins_p.K23fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.K12fs|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.K25fs|RNF145_ENST00000520638.1_Frame_Shift_Ins_p.K9fs|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttttttttttcttttttttttt	0.361																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"RING-type (C3HC4) zinc fingers"	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17->A	5.37:g.158630652_158630652dupT			B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Ins	INS	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.K26fs	ENST00000424310.2	37	c.75_74	CCDS56390.1	5																																																																																			RNF145	-	NULL	ENSG00000145860		0.361	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1		0	43	0	-	NM_144726		158630642	-1	tier1		no_errors	ENST00000518802	ensembl	human	known	74_37	frame_shift_ins	12.90	27	4	INS	0.000:0.000	T	T	158630642	-	T	158630641	6	5	112	0	1	1	1	0	0	0	0	0	13492	912	32	0		0	RNF145	5	158630641	5'UTR	INS	-	TCGA-LN-A4A2-01A-31D-A27G-09	40054505	158630641	22284619	72	30360											
STK10	6793	genome.wustl.edu	37	chr5	171614953	171614953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatctcccacacctcgttggGgtccaggtcgcggcggacgt	5	8	14	14	5	1	0	0	0	1	0	5	2	2	1	3	5	0	1	3	5	0	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:171614953G>T	ENST00000176763.5	-	1	437	c.94C>A	c.(94-96)Ccc>Acc	p.P32T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	32					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACCTCGTTGGGGTCCAGGTCG	0.652																																																	0													39	38	39					5																	171614953		2203	4300	6503	SO:0001583	missense	0			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.94C>A	5.37:g.171614953G>T	ENSP00000176763:p.Pro32Thr		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P32T	ENST00000176763.5	37	c.94	CCDS34290.1	5	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033867	0.93575	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.13307	2.6	4.03	4.03	0.46877	Protein kinase-like domain (1);	0.069882	0.64402	D	0.000020	T	0.33294	0.0858	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.08953	-1.0697	10	0.87932	D	0	.	13.7235	0.62743	0.0:0.0:1.0:0.0	.	32	O94804	STK10_HUMAN	T	32	ENSP00000176763:P32T	ENSP00000176763:P32T	P	-	1	0	STK10	171547558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.366000	0.97143	2.086000	0.62901	0.462000	0.41574	CCC	STK10	-	superfamily_Kinase-like_dom	ENSG00000072786		0.652	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	-	0	88	0	G	NM_005990		171614953	-1	tier1	-	no_errors	ENST00000176763	ensembl	human	known	74_37	missense	30.00	35	15	SNP	1.000	T	T	171614953	G	T	171614953	3	4	112	1	0	0	0	0	1	0	0	0	15333	1232	43	3	2888	3	STK10	5	171614953	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	12984312	171614953	9300307	73	30361											
DDX41	51428	genome.wustl.edu	37	chr5	176940721	176940721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggtacggatgtcaccctCgaagcccatgtcgatcatgc	9	9	11	12	3	2	0	2	0	0	0	4	4	2	1	2	2	3	1	2	2	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr5:176940721C>T	ENST00000507955.1	-	10	1586	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	355	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ATGTCACCCTCGAAGCCCATG	0.632																																																	0													111	88	96					5																	176940721		2203	4300	6503	SO:0001583	missense	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1063G>A	5.37:g.176940721C>T	ENSP00000422753:p.Glu355Lys		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E355K	ENST00000507955.1	37	c.1063	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821464	0.90873	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.14893	2.47;2.47	5.91	5.05	0.67936	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.051567	0.85682	N	0.000000	T	0.33000	0.0848	L	0.38649	1.16	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.956;0.997	T	0.07520	-1.0768	10	0.87932	D	0	-35.7793	15.1973	0.73104	0.0:0.9325:0.0:0.0675	.	229;355	B3KRK2;Q9UJV9	.;DDX41_HUMAN	K	373;355	ENSP00000330349:E373K;ENSP00000422753:E355K	ENSP00000330349:E373K	E	-	1	0	DDX41	176873327	1.000000	0.71417	0.951000	0.38953	0.539000	0.34962	7.770000	0.85390	1.515000	0.48885	0.655000	0.94253	GAG	DDX41	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000183258		0.632	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	HGNC	protein_coding	OTTHUMT00000253432.2	-	0	49	0	C	NM_016222		176940721	-1	tier1	-	no_errors	ENST00000507955	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	T	T	176940721	C	T	176940721	3	4	112	1	0	0	0	0	1	0	0	0	4370	893	31	1	837	1	DDX41	5	176940721	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	5325768	176940721	3974539	74	30362											
HIVEP1	3096	genome.wustl.edu	37	chr6	12125243	12125243	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgactttcccctcaacaaGaatcttcagcttcgagtaaa	12	11	6	12	2	3	1	2	0	1	1	6	3	4	1	2	0	2	2	2	0	5	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:12125243G>T	ENST00000379388.2	+	4	5547	c.5215G>T	c.(5215-5217)Gaa>Taa	p.E1739*	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1739					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCCTCAACAAGAATCTTCAGC	0.408																																																	0													67	65	66					6																	12125243		1837	4086	5923	SO:0001587	stop_gained	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5215G>T	6.37:g.12125243G>T	ENSP00000368698:p.Glu1739*		B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1739*	ENST00000379388.2	37	c.5215	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	49	15.328855	0.99830	.	.	ENSG00000095951	ENST00000379388	.	.	.	5.73	5.73	0.89815	.	0.000000	0.34046	N	0.004318	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.0195	19.8951	0.96955	0.0:0.0:1.0:0.0	.	.	.	.	X	1739	.	.	E	+	1	0	HIVEP1	12233229	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.694000	0.91930	0.655000	0.94253	GAA	HIVEP1	-	NULL	ENSG00000095951		0.408	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	-	0	26	0	G	NM_002114		12125243	1	tier1	-	no_errors	ENST00000379388	ensembl	human	known	74_37	nonsense	16.67	20	4	SNP	1.000	T	T	12125243	G	T	12125243	4	4	112	1	0	0	0	0	0	1	0	0	7213	943	33	3	5225	3	HIVEP1	6	12125243	Nonsense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		12125243	158989824	75	30363											
HIST1H4L	8368	genome.wustl.edu	37	chr6	27841109	27841110	+	Missense_Mutation	DNP	TT	TT	AC																															attacattctccaaaaacacTttaagaactccgcgtgtctc																										TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:27841109_27841110TT>AC	ENST00000355981.2	-	1	179_180	c.179_180AA>GT	c.(178-180)aAA>aGT	p.K60S	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	60					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						CCAAAAACACTTTAAGAACTCC	0.559																																																	0																																										SO:0001583	missense	0			X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"Histones / Replication-dependent"	4791	protein-coding gene	gene with protein product		602831	"H4 histone family, member K", "histone 1, H4l"	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.179_180delinsAC	6.37:g.27841109_27841110delinsAC	ENSP00000348258:p.Lys60Ser		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.K60N|p.K60R	ENST00000355981.2	37	c.180|c.179	CCDS4637.1	6																																																																																			HIST1H4L	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000198558		0.559	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4L	HGNC	protein_coding	OTTHUMT00000043513.1	-	0	106|104	0	T	NM_003546		27841109|27841110	-1	tier1	-	no_errors	ENST00000355981	ensembl	human	known	74_37	missense	26.39|25.00	53|54	19|18	SNP	1.000	A|C	AC	27841110	TT	AC	27841109	3	1	112	1	0	0	0	0	1	0	0	0	7203	1606	56	5	135	5	HIST1H4L	6	27841109	Missense_Mutation	DNP	TT	TCGA-LN-A4A2-01A-31D-A27G-09	15715866	27841109	143273958	76	30364											
LGSN	51557	genome.wustl.edu	37	chr6	63989979	63989979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcagctatttcttcattctCcaactcatatttcttcatgg	8	18	4	11	0	6	0	3	0	3	0	7	0	6	0	1	1	3	2	1	1	3	7			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:63989979C>G	ENST00000370657.4	-	4	1510	c.1477G>C	c.(1477-1479)Gag>Cag	p.E493Q	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	493					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCTTCATTCTCCAACTCATAT	0.358																																																	0													69	73	72					6																	63989979		2203	4300	6503	SO:0001583	missense	0			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"glutamate-ammonia ligase (glutamine synthetase) domain containing 1"	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1477G>C	6.37:g.63989979C>G	ENSP00000359691:p.Glu493Gln		A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta	p.E493Q	ENST00000370657.4	37	c.1477	CCDS4964.1	6	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718974	0.68844	.	.	ENSG00000146166	ENST00000370657	D	0.86432	-2.12	5.96	5.96	0.96718	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.78801	2.425	0.80722	D	1	P	0.41710	0.76	P	0.46110	0.504	D	0.88669	0.3194	10	0.52906	T	0.07	-31.8128	19.4101	0.94667	0.0:1.0:0.0:0.0	.	493	Q5TDP6	LGSN_HUMAN	Q	493	ENSP00000359691:E493Q	ENSP00000359691:E493Q	E	-	1	0	LGSN	64047938	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	7.487000	0.81328	2.832000	0.97577	0.655000	0.94253	GAG	LGSN	-	NULL	ENSG00000146166		0.358	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGSN	HGNC	protein_coding	OTTHUMT00000041076.2	-	0	35	0	C	NM_016571		63989979	-1	tier1	-	no_errors	ENST00000370657	ensembl	human	known	74_37	missense	20.00	16	4	SNP	1.000	G	G	63989979	C	G	63989979	3	3	112	1	0	0	0	0	1	0	0	0	8788	864	30	5	56	5	LGSN	6	63989979	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	36148870	63989979	107125088	77	30365											
MDN1	23195	genome.wustl.edu	37	chr6	90459388	90459388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatccaacagcctattcagCgcctctaacacatcagtagg	12	9	6	14	1	4	0	3	0	1	0	5	0	5	0	3	1	4	1	3	1	4	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:90459388C>T	ENST00000369393.3	-	25	3604	c.3489G>A	c.(3487-3489)gcG>gcA	p.A1163A	MDN1_ENST00000428876.1_Silent_p.A1163A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1163					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCTATTCAGCGCCTCTAACA	0.398																																																	0													121	122	122					6																	90459388		2203	4300	6503	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3489G>A	6.37:g.90459388C>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.A1163	ENST00000369393.3	37	c.3489	CCDS5024.1	6																																																																																			MDN1	-	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin	ENSG00000112159		0.398	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0	38	0	C			90459388	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.953	T	T	90459388	C	T	90459388	2	4	112	1	0	0	0	0	0	0	0	1	9453	755	27	1		1	MDN1	6	90459388	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	26469409	90459388	80655679	78	30366											
TSPYL1	7259	genome.wustl.edu	37	chr6	116600515	116600515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctgagacggtggcgCactttcctgtcttcacctcc	4	11	11	15	3	2	1	1	1	1	1	4	2	4	1	3	3	1	3	3	3	0	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:116600515C>A	ENST00000368608.3	-	1	551	c.479G>T	c.(478-480)tGc>tTc	p.C160F	DSE_ENST00000540275.1_Intron|DSE_ENST00000452085.3_5'Flank|RP1-93H18.1_ENST00000449314.1_lincRNA	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	160					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		GACGGTGGCGCACTTTCCTGT	0.637																																																	0													57	61	60					6																	116600515		2203	4300	6503	SO:0001583	missense	0			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"TSPY-like"	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.479G>T	6.37:g.116600515C>A	ENSP00000357597:p.Cys160Phe		O75885|Q5TFE6	Missense_Mutation	SNP	pfam_NAP_family	p.C160F	ENST00000368608.3	37	c.479	CCDS34518.1	6	.	.	.	.	.	.	.	.	.	.	C	4.455	0.084359	0.08583	.	.	ENSG00000189241	ENST00000368608;ENST00000545830	T	0.20738	2.05	3.35	1.53	0.23141	.	2.437550	0.01842	N	0.035415	T	0.05410	0.0143	L	0.39898	1.24	0.09310	N	1	P	0.50943	0.94	B	0.41571	0.36	T	0.17137	-1.0379	10	0.09843	T	0.71	0.1799	4.8626	0.13592	0.0:0.6581:0.2185:0.1234	.	160	Q9H0U9	TSYL1_HUMAN	F	160	ENSP00000357597:C160F	ENSP00000357597:C160F	C	-	2	0	TSPYL1	116707208	0.000000	0.05858	0.006000	0.13384	0.129000	0.20672	-0.166000	0.09954	0.394000	0.25230	0.561000	0.74099	TGC	TSPYL1	-	NULL	ENSG00000189241		0.637	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL1	HGNC	protein_coding	OTTHUMT00000041929.1	-	0	156	0	C			116600515	-1	tier1	-	no_errors	ENST00000368608	ensembl	human	known	74_37	missense	27.17	67	25	SNP	0.007	A	A	116600515	C	A	116600515	3	1	112	1	0	0	0	0	1	0	0	0	16707	710	25	3	838	3	TSPYL1	6	116600515	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	26141127	116600515	54514552	79	30367											
LAMA2	3908	genome.wustl.edu	37	chr6	129475680	129475680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatggaaaagctgaagaatGctattatgatgaaaatgttg	16	12	10	3	0	1	4	1	3	0	1	1	5	1	5	0	1	2	3	0	1	8	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:129475680G>A	ENST00000421865.2	+	8	1107	c.1058G>A	c.(1057-1059)tGc>tAc	p.C353Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	353	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTGAAGAATGCTATTATGAT	0.318																																																	0													78	80	80					6																	129475680		2203	4300	6503	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1058G>A	6.37:g.129475680G>A	ENSP00000400365:p.Cys353Tyr		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.C353Y	ENST00000421865.2	37	c.1058	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762386	0.89932	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.94330	-3.4	6.06	6.06	0.98353	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99150	1.0858	10	0.87932	D	0	.	20.2233	0.98332	0.0:0.0:1.0:0.0	.	353;353	A6NF00;P24043	.;LAMA2_HUMAN	Y	353	ENSP00000400365:C353Y	ENSP00000346769:C353Y	C	+	2	0	LAMA2	129517373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.532000	0.98057	2.871000	0.98454	0.655000	0.94253	TGC	LAMA2	-	pfam_EGF_laminin,smart_EGF_laminin	ENSG00000196569		0.318	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	-	0	46	0	G			129475680	1	tier1	-	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	A	A	129475680	G	A	129475680	3	1	112	1	0	0	0	0	1	0	0	0	8634	1319	46	3	1088	3	LAMA2	6	129475680	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	12875165	129475680	41639387	80	30368											
VNN1	8876	genome.wustl.edu	37	chr6	133015315	133015315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcttgtactggggtctgGccaaatctgatacatgttta	8	16	9	8	0	3	1	0	1	3	0	3	1	3	1	1	3	2	2	1	3	4	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:133015315G>A	ENST00000367928.4	-	3	361	c.348C>T	c.(346-348)ggC>ggT	p.G116G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	116	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)	p.G116G(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CTGGGGTCTGGCCAAATCTGA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											96	89	91					6																	133015315		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"Vanins"	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.348C>T	6.37:g.133015315G>A			A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.G116	ENST00000367928.4	37	c.348	CCDS5159.1	6																																																																																			VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.388	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1		0	67	0	G			133015315	-1			no_errors	ENST00000367928	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.002	A	A	133015315	G	A	133015315	2	1	112	1	0	0	0	0	0	0	0	1	17231	1190	42	3		3	VNN1	6	133015315	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	3539635	133015315	38099752	81	30369											
VNN2	8875	genome.wustl.edu	37	chr6	133072386	133072386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctgtagcttaaatgacaGcaaagctccttttgacagac	13	12	7	9	0	1	3	0	2	1	1	2	3	2	3	1	0	3	4	1	0	4	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr6:133072386G>A	ENST00000326499.6	-	5	1222	c.1098C>T	c.(1096-1098)tgC>tgT	p.C366C	VNN2_ENST00000525270.1_Silent_p.C313C|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	366					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TTAAATGACAGCAAAGCTCCT	0.393																																																	0													122	125	124					6																	133072386		2203	4300	6503	SO:0001819	synonymous_variant	0			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"Vanins"	12706	protein-coding gene	gene with protein product	"pantetheinase"	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1098C>T	6.37:g.133072386G>A			A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.A190V	ENST00000326499.6	37	c.569	CCDS5161.1	6																																																																																			VNN2	-	pfscan_C-N_Hydrolase	ENSG00000112303		0.393	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VNN2	HGNC	protein_coding	OTTHUMT00000042264.2	-	0	39	0	G			133072386	-1	tier1	-	no_errors	ENST00000532053	ensembl	human	known	74_37	missense	34.48	19	10	SNP	0.999	A	A	133072386	G	A	133072386	2	1	112	1	0	0	0	0	0	0	0	1	17232	963	34	3		3	VNN2	6	133072386	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	57071	133072386	38042681	82	30370											
TXNDC3	51314	genome.wustl.edu	37	chr7	37934120	37934120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatctgacacaggtgaaGaaaatgttcctaactcctga	13	12	8	8	0	1	5	0	4	1	1	3	5	3	5	2	1	1	1	2	1	4	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:37934120G>T	ENST00000199447.4	+	16	1824	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N	NME8_ENST00000440017.1_Missense_Mutation_p.K484N|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	484	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										CACAGGTGAAGAAAATGTTCC	0.318																																																	0													75	78	77					7																	37934120		2203	4298	6501	SO:0001583	missense	0			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"sperm-specific thioredoxin 2"	607421	"thioredoxin domain containing 3 (spermatozoa)"	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1452G>T	7.37:g.37934120G>T	ENSP00000199447:p.Lys484Asn		Q9NZH1	Missense_Mutation	SNP	pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase	p.K484N	ENST00000199447.4	37	c.1452	CCDS5452.1	7	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207354	0.39003	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.63913	-0.07;-0.07	4.05	-2.2	0.06994	.	0.139077	0.32819	N	0.005606	T	0.79257	0.4415	H	0.95780	3.72	0.09310	N	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.68526	-0.5385	10	0.72032	D	0.01	-18.654	5.0283	0.14396	0.4618:0.1537:0.3845:0.0	.	484	Q8N427	TXND3_HUMAN	N	484	ENSP00000199447:K484N;ENSP00000397063:K484N	ENSP00000199447:K484N	K	+	3	2	TXNDC3	37900645	0.988000	0.35896	0.000000	0.03702	0.009000	0.06853	0.164000	0.16542	-0.489000	0.06716	0.467000	0.42956	AAG	NME8	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase	ENSG00000086288		0.318	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME8	HGNC	protein_coding	OTTHUMT00000219946.1	-	0	46	0	G	NM_016616		37934120	1	tier1	-	no_errors	ENST00000199447	ensembl	human	known	74_37	missense	16.44	61	12	SNP	0.004	T	T	37934120	G	T	37934120	3	4	112	1	0	0	0	0	1	0	0	0	16847	933	33	3	1506	3	TXNDC3	7	37934120	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		37934120	121204543	83	30371											
ZNF679	168417	genome.wustl.edu	37	chr7	63726929	63726929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgtggcaaagcctttagCttatcctcatccctcactta	10	13	6	12	0	2	0	2	0	0	0	4	1	4	0	3	1	2	2	3	1	5	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:63726929C>T	ENST00000421025.1	+	5	1187	c.918C>T	c.(916-918)agC>agT	p.S306S	ZNF679_ENST00000255746.4_Silent_p.S306S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAGCCTTTAGCTTATCCTCAT	0.448																																																	0													32	31	31					7																	63726929		692	1591	2283	SO:0001819	synonymous_variant	0			BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"Zinc fingers, C2H2-type", "-"	28650	protein-coding gene	gene with protein product	"hypothetical protein MGC42415"					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.918C>T	7.37:g.63726929C>T				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S306	ENST00000421025.1	37	c.918	CCDS47592.1	7																																																																																			ZNF679	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197123		0.448	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF679	HGNC	protein_coding	OTTHUMT00000344317.2	-	0	77	0	C	NM_153363		63726929	1	tier1	-	no_errors	ENST00000255746	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.018	T	T	63726929	C	T	63726929	2	4	112	1	0	0	0	0	0	0	0	1	18134	796	28	3		3	ZNF679	7	63726929	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	25792809	63726929	95411734	84	30372											
NPTX2	4885	genome.wustl.edu	37	chr7	98256586	98256586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggacggagagaagctggGcactggggagaacctggccc	10	3	17	11	1	0	2	0	0	0	2	0	6	0	4	3	6	2	2	3	6	2	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:98256586G>A	ENST00000265634.3	+	4	1163	c.998G>A	c.(997-999)gGc>gAc	p.G333D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	333	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAAGCTGGGCACTGGGGAG	0.642																																																	0													93	76	82					7																	98256586		2203	4300	6503	SO:0001583	missense	0				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"apexin"	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.998G>A	7.37:g.98256586G>A	ENSP00000265634:p.Gly333Asp		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.G333D	ENST00000265634.3	37	c.998	CCDS5657.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.321762	0.95682	.	.	ENSG00000106236	ENST00000265634	T	0.61158	0.13	5.39	5.39	0.77823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73154	-0.4072	10	0.49607	T	0.09	-16.073	18.4968	0.90867	0.0:0.0:1.0:0.0	.	333	P47972	NPTX2_HUMAN	D	333	ENSP00000265634:G333D	ENSP00000265634:G333D	G	+	2	0	NPTX2	98094522	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.807000	0.99171	2.682000	0.91365	0.655000	0.94253	GGC	NPTX2	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000106236		0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	HGNC	protein_coding	OTTHUMT00000334982.1	-	0	46	0	G	NM_002523		98256586	1	tier1	-	no_errors	ENST00000265634	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	A	A	98256586	G	A	98256586	3	1	112	1	0	0	0	0	1	0	0	0	10642	1203	42	3	1012	3	NPTX2	7	98256586	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	34529657	98256586	60882077	85	30373											
ZNF655	79027	genome.wustl.edu	37	chr7	99170870	99170870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatttcagagaaaagccctAtacgtgtagtgaatgtggaa	14	11	10	6	1	2	2	2	1	0	1	2	4	2	3	1	1	2	1	1	1	7	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:99170870A>G	ENST00000394163.2	+	3	1322	c.1139A>G	c.(1138-1140)tAt>tGt	p.Y380C	GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.Y380C|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000493277.1_Missense_Mutation_p.Y415C|ZNF655_ENST00000424881.1_Missense_Mutation_p.Y415C|ZNF655_ENST00000425063.1_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	380					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y380C(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAAAAGCCCTATACGTGTAGT	0.368																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											95	101	99					7																	99170870		2203	4300	6503	SO:0001583	missense	0			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"Zinc fingers, C2H2-type", "-"	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.1139A>G	7.37:g.99170870A>G	ENSP00000377718:p.Tyr380Cys		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y415C	ENST00000394163.2	37	c.1244	CCDS5669.1	7	.	.	.	.	.	.	.	.	.	.	A	11.25	1.583333	0.28268	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.07	-0.548	0.11833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38663	N	0.001617	T	0.70850	0.3271	L	0.58969	1.84	0.26415	N	0.976198	D;D	0.76494	0.998;0.999	D;D	0.66716	0.911;0.946	T	0.61874	-0.6973	10	0.87932	D	0	-2.0722	5.5184	0.16919	0.401:0.0:0.0792:0.5198	.	415;380	Q8N720-3;Q8N720	.;ZN655_HUMAN	C	380;415;415;380	ENSP00000252713:Y380C;ENSP00000419135:Y415C;ENSP00000393876:Y415C;ENSP00000377718:Y380C	ENSP00000252713:Y380C	Y	+	2	0	ZNF655	99008806	0.007000	0.16637	0.025000	0.17156	0.650000	0.38633	0.391000	0.20784	-0.159000	0.11021	0.528000	0.53228	TAT	ZNF655	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197343		0.368	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ZNF655	HGNC	protein_coding	OTTHUMT00000344929.1	-	0	32	0	A	NM_138494		99170870	1	tier1	-	no_errors	ENST00000424881	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.008	G	G	99170870	A	G	99170870	3	3	112	1	0	0	0	0	1	0	0	0	18116	449	16	4	1676	4	ZNF655	7	99170870	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	914284	99170870	59967793	86	30374											
RELN	5649	genome.wustl.edu	37	chr7	103143467	103143467	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagttttctacttactttcCcactaagctttcaggaagtg	9	17	6	9	0	2	0	1	0	1	0	3	1	3	1	1	1	3	2	1	1	5	8			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:103143467C>A	ENST00000428762.1	-	52	8644	c.8485G>T	c.(8485-8487)Gga>Tga	p.G2829*	RELN_ENST00000343529.5_Nonsense_Mutation_p.G2829*|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Nonsense_Mutation_p.G2829*	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2829					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTTACTTTCCCACTAAGCTT	0.423																																					NSCLC(146;835 1944 15585 22231 52158)												0													106	94	98					7																	103143467		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8485G>T	7.37:g.103143467C>A	ENSP00000392423:p.Gly2829*		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G2829*	ENST00000428762.1	37	c.8485	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	51	17.713177	0.99892	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.23	5.23	0.72850	.	0.170735	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8293	0.92132	0.0:1.0:0.0:0.0	.	.	.	.	X	2829;2829;2829;346;2829	.	ENSP00000345694:G2829X	G	-	1	0	RELN	102930703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.433000	0.82419	0.655000	0.94253	GGA	RELN	-	superfamily_Sialidases	ENSG00000189056		0.423	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	-	0	135	0	C	NM_005045		103143467	-1	tier1	-	no_errors	ENST00000424685	ensembl	human	known	74_37	nonsense	23.02	97	29	SNP	1.000	A	A	103143467	C	A	103143467	4	1	112	1	0	0	0	0	0	1	0	0	13265	632	22	3	1953	3	RELN	7	103143467	Nonsense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	3972597	103143467	55995196	87	30375											
MLL5	55904	genome.wustl.edu	37	chr7	104703927	104703927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttccagtgctactacaAtcagcacatctgaggatgga	14	9	8	10	0	2	1	1	1	1	0	3	3	3	3	1	2	5	2	1	2	4	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:104703927A>G	ENST00000311117.3	+	5	861	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.I106V|KMT2E_ENST00000334877.4_Missense_Mutation_p.I106V|KMT2E_ENST00000257745.4_Missense_Mutation_p.I106V	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	106					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										TGCTACTACAATCAGCACATC	0.418																																																	0													153	135	141					7																	104703927		2203	4300	6503	SO:0001583	missense	0			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	18541	protein-coding gene	gene with protein product		608444	"myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.316A>G	7.37:g.104703927A>G	ENSP00000312379:p.Ile106Val		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.I106V	ENST00000311117.3	37	c.316	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	9.086	1.000436	0.19121	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000495267;ENST00000476671;ENST00000537308	D;D;D;T;D	0.93076	-2.8;-2.43;-2.8;1.65;-3.16	5.46	5.46	0.80206	Zinc finger, FYVE/PHD-type (1);	0.058810	0.64402	D	0.000001	D	0.84615	0.5511	N	0.08118	0	0.80722	D	1	P;B	0.44690	0.841;0.112	B;B	0.37451	0.25;0.079	D	0.85423	0.1144	10	0.26408	T	0.33	.	15.8148	0.78592	1.0:0.0:0.0:0.0	.	106;106	Q8IZD2;Q8IZD2-3	MLL5_HUMAN;.	V	106;106;106;106;106;106;106;40	ENSP00000312379:I106V;ENSP00000335599:I106V;ENSP00000257745:I106V;ENSP00000420415:I106V;ENSP00000417888:I106V	ENSP00000257745:I106V	I	+	1	0	MLL5	104491163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.607000	0.74163	2.200000	0.70718	0.477000	0.44152	ATC	KMT2E	-	superfamily_Znf_FYVE_PHD	ENSG00000005483		0.418	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2E	HGNC	protein_coding	OTTHUMT00000348697.1	-	0	38	0	A			104703927	1	tier1	-	no_errors	ENST00000257745	ensembl	human	known	74_37	missense	19.67	49	12	SNP	0.999	G	G	104703927	A	G	104703927	3	3	112	1	0	0	0	0	1	0	0	0	9662	101	4	4	326	4	MLL5	7	104703927	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	1560460	104703927	54434736	88	30376											
RINT1	60561	genome.wustl.edu	37	chr7	105206037	105206037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgcagtttgatatgactCggaatcttttccctttgttt	7	18	8	8	1	1	2	0	2	1	0	3	3	2	3	1	1	2	4	1	1	2	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:105206037C>T	ENST00000257700.2	+	14	2359	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	EFCAB10_ENST00000490493.1_5'Flank|EFCAB10_ENST00000480514.1_Intron|EFCAB10_ENST00000485614.1_Missense_Mutation_p.E137K	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	710	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGATATGACTCGGAATCTTTT	0.308																																																	0													84	82	83					7																	105206037		2203	4300	6503	SO:0001583	missense	0			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.2128C>T	7.37:g.105206037C>T	ENSP00000257700:p.Arg710Trp		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	pfam_RINT1_TIP1	p.R710W	ENST00000257700.2	37	c.2128	CCDS34726.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.115595|4.115595	0.77323|0.77323	.|.	.|.	ENSG00000185055|ENSG00000135249	ENST00000485614|ENST00000257700	.|T	.|0.34072	.|1.38	5.71|5.71	4.81|4.81	0.61882|0.61882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60457|0.60457	0.2270|0.2270	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.65697|0.65697	-0.6105|-0.6105	6|10	0.87932|0.87932	D|D	0|0	-20.2722|-20.2722	14.6104|14.6104	0.68512|0.68512	0.3523:0.6477:0.0:0.0|0.3523:0.6477:0.0:0.0	.|.	.|710	.|Q6NUQ1	.|RINT1_HUMAN	K|W	137|710	.|ENSP00000257700:R710W	ENSP00000417841:E137K|ENSP00000257700:R710W	E|R	-|+	1|1	0|2	EFCAB10|RINT1	104993273|104993273	0.998000|0.998000	0.40836|0.40836	0.991000|0.991000	0.47740|0.47740	0.982000|0.982000	0.71751|0.71751	2.759000|2.759000	0.47573|0.47573	1.357000|1.357000	0.45904|0.45904	0.650000|0.650000	0.86243|0.86243	GAG|CGG	RINT1	-	pfam_RINT1_TIP1	ENSG00000135249		0.308	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	HGNC	protein_coding	OTTHUMT00000348686.1	-	0	26	0	C	NM_021930		105206037	1	tier1	-	no_errors	ENST00000257700	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.986	T	T	105206037	C	T	105206037	3	4	112	1	0	0	0	0	1	0	0	0	13421	875	31	1	2182	1	RINT1	7	105206037	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	502110	105206037	53932626	89	30377											
COG5	10466	genome.wustl.edu	37	chr7	106897227	106897227	+	Intron	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagtgggaatgagctctGactggaaacaacctagaaca	14	7	11	9	0	1	3	0	2	1	1	1	5	1	5	2	2	5	1	2	2	5	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:106897227G>A	ENST00000347053.3	-	15	1830				COG5_ENST00000297135.3_Nonsense_Mutation_p.Q598*|COG5_ENST00000393603.2_Nonsense_Mutation_p.Q598*	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AATGAGCTCTGACTGGAAACA	0.333																																																	0													77	77	77					7																	106897227		2203	4300	6503	SO:0001627	intron_variant	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"Components of oligomeric golgi complex"	14857	protein-coding gene	gene with protein product		606821	"golgi transport complex 1 (90 kDa subunit)"	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1779+1490C>T	7.37:g.106897227G>A			A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Nonsense_Mutation	SNP	pfam_Cog5	p.Q598*	ENST00000347053.3	37	c.1792	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	G	41	9.031606	0.99042	.	.	ENSG00000164597	ENST00000297135;ENST00000393603	.	.	.	5.33	5.33	0.75918	.	0.193250	0.45361	D	0.000365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-8.0608	18.1711	0.89745	0.0:0.0:1.0:0.0	.	.	.	.	X	598	.	ENSP00000297135:Q598X	Q	-	1	0	COG5	106684463	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.080000	0.64437	2.650000	0.89964	0.655000	0.94253	CAG	COG5	-	NULL	ENSG00000164597		0.333	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	-	0	53	0	G			106897227	-1	tier1	-	no_errors	ENST00000297135	ensembl	human	known	74_37	nonsense	15.56	38	7	SNP	1.000	A	A	106897227	G	A	106897227	1	1	112	0	1	0	0	0	0	0	0	0	3668	1299	45	3		3	COG5	7	106897227	Intron	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1691190	106897227	52241436	90	30378											
TAS2R16	50833	genome.wustl.edu	37	chr7	122635287	122635287	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgttacacaagtaatcatCagagaacccagtaatatcca	17	10	5	9	0	2	1	2	0	0	1	3	2	3	1	2	0	2	3	2	0	6	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:122635287C>G	ENST00000249284.2	-	1	467	c.402G>C	c.(400-402)ctG>ctC	p.L134L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	134					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTAATCATCAGAGAACCCA	0.413																																																	0													118	114	116					7																	122635287		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.402G>C	7.37:g.122635287C>G			A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	pfam_TAS2_rcpt	p.L134	ENST00000249284.2	37	c.402	CCDS5785.1	7																																																																																			TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.413	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	-	0	23	0	C	NM_016945		122635287	-1	tier1	-	no_errors	ENST00000249284	ensembl	human	known	74_37	silent	16.00	21	4	SNP	0.001	G	G	122635287	C	G	122635287	2	3	112	1	0	0	0	0	0	0	0	1	15616	813	29	5		5	TAS2R16	7	122635287	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	15738060	122635287	36503376	91	30379											
IQUB	154865	genome.wustl.edu	37	chr7	123097574	123097574	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcgcaagcactgaggactGactgggacgcccagatgttc	9	8	13	11	2	0	3	0	2	0	1	2	5	0	5	1	2	1	3	1	2	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:123097574G>C	ENST00000466202.1	-	12	2630	c.2054C>G	c.(2053-2055)tCa>tGa	p.S685*	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Nonsense_Mutation_p.S685*|RNU6-296P_ENST00000384608.1_RNA	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	685					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACTGAGGACTGACTGGGACGC	0.423																																																	0													175	171	172					7																	123097574		2203	4300	6503	SO:0001587	stop_gained	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2054C>G	7.37:g.123097574G>C	ENSP00000417769:p.Ser685*		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.S685*	ENST00000466202.1	37	c.2054	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	G	38	7.119986	0.98077	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	.	.	.	5.64	5.64	0.86602	.	0.062781	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.711	0.96096	0.0:0.0:1.0:0.0	.	.	.	.	X	685	.	ENSP00000324882:S685X	S	-	2	0	IQUB	122884810	1.000000	0.71417	0.958000	0.39756	0.350000	0.29205	9.075000	0.94004	2.653000	0.90120	0.637000	0.83480	TCA	IQUB	-	NULL	ENSG00000164675		0.423	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1	-	0	50	0	G	NM_178827		123097574	-1	tier1	-	no_errors	ENST00000324698	ensembl	human	known	74_37	nonsense	8.22	67	6	SNP	1.000	C	C	123097574	G	C	123097574	4	2	112	1	0	0	0	0	0	1	0	0	7847	1294	45	5	329	5	IQUB	7	123097574	Nonsense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	462287	123097574	36041089	92	30380											
TSPAN33	340348	genome.wustl.edu	37	chr7	128802357	128802357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagaacatctgcctcctgCagacggtgagtggtcaaggc	9	7	14	11	2	2	3	1	1	1	2	3	4	3	3	2	3	3	1	2	3	2	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:128802357C>A	ENST00000289407.4	+	3	392	c.283C>A	c.(283-285)Cag>Aag	p.Q95K	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	95					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CTGCCTCCTGCAGACGGTGAG	0.607																																																	0													96	77	83					7																	128802357		2203	4300	6503	SO:0001583	missense	0				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"Tetraspanins"	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.283C>A	7.37:g.128802357C>A	ENSP00000289407:p.Gln95Lys			Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q95K	ENST00000289407.4	37	c.283	CCDS5810.1	7	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443063	0.25987	.	.	ENSG00000158457	ENST00000289407	T	0.78481	-1.18	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51092	0.1654	N	0.01454	-0.855	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.57148	-0.7861	10	0.02654	T	1	-14.0862	17.6515	0.88165	0.0:1.0:0.0:0.0	.	95	Q86UF1	TSN33_HUMAN	K	95	ENSP00000289407:Q95K	ENSP00000289407:Q95K	Q	+	1	0	TSPAN33	128589593	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.188000	0.58351	2.773000	0.95371	0.650000	0.86243	CAG	TSPAN33	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000158457		0.607	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN33	HGNC	protein_coding	OTTHUMT00000350983.1	-	0	64	0	C	NM_178562		128802357	1	tier1	-	no_errors	ENST00000289407	ensembl	human	known	74_37	missense	25.00	39	13	SNP	1.000	A	A	128802357	C	A	128802357	3	1	112	1	0	0	0	0	1	0	0	0	16696	711	25	3	293	3	TSPAN33	7	128802357	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	5704783	128802357	30336306	93	30381											
MGAM	8972	genome.wustl.edu	37	chr7	141740561	141740561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggaagcaaaaagtcgagatgGaacttcctggagacaaaatt	17	7	11	6	1	0	2	0	0	0	2	2	6	1	4	1	3	2	1	1	3	6	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr7:141740561G>C	ENST00000549489.2	+	21	2508	c.2413G>C	c.(2413-2415)Gaa>Caa	p.E805Q	MGAM_ENST00000475668.2_Missense_Mutation_p.E805Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	805	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTCGAGATGGAACTTCCTGG	0.478																																																	0													117	118	118					7																	141740561		1991	4176	6167	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2413G>C	7.37:g.141740561G>C	ENSP00000447378:p.Glu805Gln		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.E805Q	ENST00000549489.2	37	c.2413	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	11.10	1.539463	0.27563	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.91894	-2.93	5.48	-5.59	0.02505	.	1.588820	0.03756	N	0.257366	T	0.80954	0.4723	N	0.13003	0.285	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.70781	-0.4779	10	0.11794	T	0.64	.	7.0987	0.25325	0.0676:0.4878:0.1345:0.3101	.	805	O43451	MGA_HUMAN	Q	805;805;682	ENSP00000447378:E805Q	ENSP00000316431:E682Q	E	+	1	0	MGAM	141387030	0.367000	0.25023	0.177000	0.23020	0.970000	0.65996	0.044000	0.13992	-0.566000	0.06054	0.650000	0.86243	GAA	MGAM	-	pfam_Glyco_hydro_31	ENSG00000257335		0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	-	0	58	0	G			141740561	1	tier1	-	no_errors	ENST00000549489	ensembl	human	known	74_37	missense	20.00	52	13	SNP	0.001	C	C	141740561	G	C	141740561	3	2	112	1	0	0	0	0	1	0	0	0	9579	1175	41	5	2491	5	MGAM	7	141740561	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	12938204	141740561	17398102	94	30382											
XKR5	389610	genome.wustl.edu	37	chr8	6669476	6669476	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttgactcaacccccatGcaggtggacaataggcagga	11	7	11	12	0	1	1	1	1	0	0	1	3	1	3	3	4	2	3	3	4	3	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:6669476G>A	ENST00000518724.1	-	0	1455							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CAACCCCCATGCAGGTGGACA	0.522																																																	0													89	77	80					8																	6669476		692	1591	2283			0			AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"X Kell blood group precursor-related family, member 5"				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6669476G>A			Q5GH74	RNA	SNP	-	NULL	ENST00000518724.1	37	NULL		8																																																																																			XKR5	-	-	ENSG00000186530		0.522	XKR5-001	KNOWN	basic	processed_transcript	XKR5	HGNC	processed_transcript	OTTHUMT00000331969.2	-	0	51	0	G	NM_207411		6669476	-1	tier1	-	no_errors	ENST00000405979	ensembl	human	known	74_37	rna	10.53	34	4	SNP	0.000	A	A	6669476	G	A	6669476	1	1	112	0	1	0	0	0	0	0	0	0	17483	1319	46	3		3	XKR5	8	6669476	RNA	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		6669476	139694546	95	30383											
WRN	7486	genome.wustl.edu	37	chr8	30982124	30982124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaaatatcttcattctaGcagatgtaggagacagtatg	15	11	10	5	0	3	2	1	0	2	2	3	4	3	3	0	2	1	3	0	2	6	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:30982124G>C	ENST00000298139.5	+	22	2966	c.2717G>C	c.(2716-2718)aGc>aCc	p.S906T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	906					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCATTCTAGCAGATGTAGG	0.303			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)		yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0													64	64	64					8																	30982124		2203	4292	6495	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2717G>C	8.37:g.30982124G>C	ENSP00000298139:p.Ser906Thr		A1KYY9	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.S906T	ENST00000298139.5	37	c.2717	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	0.395	-0.921498	0.02396	.	.	ENSG00000165392	ENST00000298139	T	0.41065	1.01	5.58	2.82	0.32997	.	0.404146	0.29066	N	0.013258	T	0.24774	0.0601	N	0.24115	0.695	0.22648	N	0.998893	B;B	0.19706	0.002;0.038	B;B	0.14023	0.009;0.01	T	0.14200	-1.0481	10	0.36615	T	0.2	-1.1211	6.1008	0.20045	0.2638:0.1337:0.6024:0.0	.	316;906	Q59F09;Q14191	.;WRN_HUMAN	T	906	ENSP00000298139:S906T	ENSP00000298139:S906T	S	+	2	0	WRN	31101666	0.530000	0.26330	0.156000	0.22583	0.007000	0.05969	0.789000	0.26886	0.312000	0.23038	-0.300000	0.09419	AGC	WRN	-	tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000165392		0.303	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	HGNC	protein_coding	OTTHUMT00000376248.1	-	0	55	0	G			30982124	1	tier1	-	no_errors	ENST00000298139	ensembl	human	known	74_37	missense	19.05	34	8	SNP	0.472	C	C	30982124	G	C	30982124	3	2	112	1	0	0	0	0	1	0	0	0	17451	971	34	5	2799	5	WRN	8	30982124	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	24312648	30982124	115381898	96	30384											
RP1	6101	genome.wustl.edu	37	chr8	55540391	55540391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctgataaggcttgtgctCaaaaggagaaccatacctat	13	12	8	8	0	2	2	1	1	1	1	2	3	2	2	2	2	3	2	2	2	6	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:55540391C>G	ENST00000220676.1	+	4	4097	c.3949C>G	c.(3949-3951)Caa>Gaa	p.Q1317E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1317					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGCTTGTGCTCAAAAGGAGAA	0.408																																					Colon(91;1014 1389 7634 14542 40420)												0													146	143	144					8																	55540391		2203	4300	6503	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3949C>G	8.37:g.55540391C>G	ENSP00000220676:p.Gln1317Glu			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Q1317E	ENST00000220676.1	37	c.3949	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	C	5.271	0.235508	0.10023	.	.	ENSG00000104237	ENST00000220676	T	0.19938	2.11	4.51	1.53	0.23141	.	1.193380	0.05975	N	0.643049	T	0.11707	0.0285	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.34950	-0.9808	10	0.10111	T	0.7	.	4.6009	0.12352	0.0:0.6139:0.1767:0.2094	.	1317	P56715	RP1_HUMAN	E	1317	ENSP00000220676:Q1317E	ENSP00000220676:Q1317E	Q	+	1	0	RP1	55702944	0.000000	0.05858	0.077000	0.20336	0.965000	0.64279	0.538000	0.23160	0.325000	0.23359	0.655000	0.94253	CAA	RP1	-	NULL	ENSG00000104237		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0	135	0	C	NM_006269		55540391	1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	22.40	97	28	SNP	0.218	G	G	55540391	C	G	55540391	3	3	112	1	0	0	0	0	1	0	0	0	13577	827	29	5	3959	5	RP1	8	55540391	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	24558267	55540391	90823631	97	30385											
COPS5	10987	genome.wustl.edu	37	chr8	67971544	67971544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaggcaaagcaaaactgtCcataatgatcatggtttcac	15	9	7	10	0	2	1	2	1	0	0	3	1	3	1	1	2	2	3	1	2	4	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:67971544C>T	ENST00000357849.4	-	2	600	c.280G>A	c.(280-282)Gac>Aac	p.D94N	COPS5_ENST00000519963.1_5'Flank|COPS5_ENST00000517736.1_Missense_Mutation_p.D30N|PPP1R42_ENST00000517834.1_5'Flank|AC109335.1_ENST00000578628.1_RNA	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	94	MPN.				cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCAAAACTGTCCATAATGATC	0.478																																																	0													185	146	159					8																	67971544		2203	4300	6503	SO:0001583	missense	0			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5", "COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.280G>A	8.37:g.67971544C>T	ENSP00000350512:p.Asp94Asn		O15386|Q6AW95|Q86WQ4|Q9BQ17	Missense_Mutation	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.D94N	ENST00000357849.4	37	c.280	CCDS6198.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.808411	0.96967	.	.	ENSG00000121022	ENST00000357849;ENST00000517736;ENST00000518747	T;T;T	0.50548	0.74;0.74;0.74	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.75184	0.3815	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.998	D;D;D	0.77557	0.982;0.976;0.99	T	0.79964	-0.1581	10	0.87932	D	0	-8.4837	19.4952	0.95069	0.0:1.0:0.0:0.0	.	63;30;94	Q59GH5;E5RHH5;Q92905	.;.;CSN5_HUMAN	N	94;30;30	ENSP00000350512:D94N;ENSP00000429774:D30N;ENSP00000428586:D30N	ENSP00000350512:D94N	D	-	1	0	COPS5	68134098	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.771000	0.85420	2.675000	0.91044	0.655000	0.94253	GAC	COPS5	-	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	ENSG00000121022		0.478	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS5	HGNC	protein_coding	OTTHUMT00000379245.2	-	0	44	0	C			67971544	-1	tier1	-	no_errors	ENST00000357849	ensembl	human	known	74_37	missense	20.00	40	10	SNP	1.000	T	T	67971544	C	T	67971544	3	4	112	1	0	0	0	0	1	0	0	0	3743	855	30	3	752	3	COPS5	8	67971544	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	12431153	67971544	78392478	98	30386											
KIAA1429	25962	genome.wustl.edu	37	chr8	95547194	95547194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatattgccagtgtcagAcagttataccagcctcttag	11	12	7	11	0	2	1	1	0	1	1	2	1	2	1	4	0	3	1	4	0	5	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:95547194A>G	ENST00000297591.5	-	5	432	c.357T>C	c.(355-357)tgT>tgC	p.C119C	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000437199.1_Silent_p.C119C|KIAA1429_ENST00000421249.2_Silent_p.C119C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	119					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCAGTGTCAGACAGTTATACC	0.458																																																	0													117	104	108					8																	95547194		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 121"					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.357T>C	8.37:g.95547194A>G			Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	superfamily_ARM-type_fold	p.C119	ENST00000297591.5	37	c.357	CCDS34923.1	8																																																																																			KIAA1429	-	NULL	ENSG00000164944		0.458	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	-	0	66	0	A	NM_015496		95547194	-1	tier1	-	no_errors	ENST00000297591	ensembl	human	known	74_37	silent	31.43	48	22	SNP	1.000	G	G	95547194	A	G	95547194	2	3	112	1	0	0	0	0	0	0	0	1	8258	273	10	4		4	KIAA1429	8	95547194	Silent	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	27575650	95547194	50816828	99	30387											
EIF3E	3646	genome.wustl.edu	37	chr8	109229586	109229586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaataactttaactagatCttttagaacctgccgacgtt	12	15	6	8	2	1	3	0	1	1	2	1	4	1	3	2	0	4	1	2	0	6	8			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:109229586C>T	ENST00000220849.5	-	8	888	c.826G>A	c.(826-828)Gat>Aat	p.D276N	EIF3E_ENST00000519030.1_Missense_Mutation_p.D183N|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTAACTAGATCTTTTAGAACC	0.318																																					GBM(15;360 410 8460 34179 52246)												0													54	50	51					8																	109229586		2197	4297	6494	SO:0001583	missense	0			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"eukaryotic translation initiation factor 3, subunit 6 48kDa"	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.826G>A	8.37:g.109229586C>T	ENSP00000220849:p.Asp276Asn			Missense_Mutation	SNP	pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e	p.D276N	ENST00000220849.5	37	c.826	CCDS6308.1	8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188035	0.78789	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.42900	0.96;0.96;0.96	5.29	5.29	0.74685	.	0.099158	0.64402	D	0.000002	T	0.71533	0.3351	M	0.90309	3.105	0.80722	D	1	P;D	0.89917	0.821;1.0	B;D	0.79108	0.313;0.992	T	0.77986	-0.2381	10	0.87932	D	0	-17.3244	17.4742	0.87655	0.0:1.0:0.0:0.0	.	276;276	B2R806;P60228	.;EIF3E_HUMAN	N	276;183;149	ENSP00000220849:D276N;ENSP00000428796:D183N;ENSP00000430839:D149N	ENSP00000220849:D276N	D	-	1	0	EIF3E	109298762	1.000000	0.71417	0.998000	0.56505	0.211000	0.24417	7.776000	0.85560	2.640000	0.89533	0.655000	0.94253	GAT	EIF3E	-	pirsf_eIF3e	ENSG00000104408		0.318	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3E	HGNC	protein_coding	OTTHUMT00000380612.2	-	0	54	0	C	NM_001568		109229586	-1	tier1	-	no_errors	ENST00000220849	ensembl	human	known	74_37	missense	45.05	50	41	SNP	1.000	T	T	109229586	C	T	109229586	3	4	112	1	0	0	0	0	1	0	0	0	5031	913	32	3	535	3	EIF3E	8	109229586	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	13682392	109229586	37134436	100	30388											
KCNQ3	3786	genome.wustl.edu	37	chr8	133492507	133492507	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgactgggcggctcagcggGgtcttggccaggagcccgat	5	8	17	11	3	2	1	1	1	1	0	2	3	2	2	2	6	2	1	2	6	0	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:133492507G>C	ENST00000388996.4	-	1	693	c.273C>G	c.(271-273)acC>acG	p.T91T	KCNQ3_ENST00000519445.1_Silent_p.T91T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	91					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGCTCAGCGGGGTCTTGGCCA	0.692																																																	0													36	41	39					8																	133492507		2203	4298	6501	SO:0001819	synonymous_variant	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.273C>G	8.37:g.133492507G>C			A2VCT8|B4DJY4|E7EQ89	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.T91	ENST00000388996.4	37	c.273	CCDS34943.1	8																																																																																			KCNQ3	-	prints_K_chnl_volt-dep_KCNQ3	ENSG00000184156		0.692	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	HGNC	protein_coding	OTTHUMT00000268621.2	-	0	93	0	G	NM_004519		133492507	-1	tier1	-	no_errors	ENST00000388996	ensembl	human	known	74_37	silent	21.88	100	28	SNP	1.000	C	C	133492507	G	C	133492507	2	2	112	1	0	0	0	0	0	0	0	1	8111	1219	43	5		5	KCNQ3	8	133492507	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	24262921	133492507	12871515	101	30389											
PARP10	84875	genome.wustl.edu	37	chr8	145059977	145059977	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgtactgggagcccCgaggcccgcagcaaggcctg	8	4	15	14	2	0	0	0	0	0	0	0	2	0	1	4	4	3	4	4	4	3	1	rs201830961	byFrequency	TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr8:145059977C>G	ENST00000313028.7	-	3	442	c.348G>C	c.(346-348)tcG>tcC	p.S116S	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Silent_p.S116S|PARP10_ENST00000525773.1_Silent_p.S128S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	116					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGAGCCCCGAGGCCCGCA	0.697																																																	0													19	24	22					8																	145059977		2153	4261	6414	SO:0001819	synonymous_variant	0			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"Poly (ADP-ribose) polymerases"	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.348G>C	8.37:g.145059977C>G			Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S116	ENST00000313028.7	37	c.348	CCDS34960.1	8																																																																																			PARP10	-	NULL	ENSG00000178685		0.697	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	-	0	28	0	C	NM_032789		145059977	-1	tier1	-	no_errors	ENST00000313028	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.001	G	G	145059977	C	G	145059977	2	3	112	1	0	0	0	0	0	0	0	1	11494	639	23	5		5	PARP10	8	145059977	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	11567470	145059977	1304045	102	30390											
KANK1	23189	genome.wustl.edu	37	chr9	712721	712721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcccggggcgtgaacaCtgaggctgttagccaggtgg	6	7	16	12	3	0	2	0	2	0	0	1	2	1	2	3	5	2	2	3	5	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:712721C>G	ENST00000382303.1	+	7	2607	c.1955C>G	c.(1954-1956)aCt>aGt	p.T652S	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.T494S|KANK1_ENST00000382297.2_Missense_Mutation_p.T652S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	652					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGCGTGAACACTGAGGCTGTT	0.547																																																	0													57	44	48					9																	712721		2203	4300	6503	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1955C>G	9.37:g.712721C>G	ENSP00000371740:p.Thr652Ser		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T652S	ENST00000382303.1	37	c.1955	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748131	0.69533	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.80214	-1.35;-1.35;-1.35	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000017	D	0.89677	0.6784	M	0.75264	2.295	0.80722	D	1	D;D	0.71674	0.997;0.998	D;P	0.68039	0.955;0.888	D	0.89622	0.3849	10	0.72032	D	0.01	-18.1431	20.0338	0.97549	0.0:1.0:0.0:0.0	.	652;652	Q5W0W1;Q14678	.;KANK1_HUMAN	S	652;652;652;494	ENSP00000371740:T652S;ENSP00000371734:T652S;ENSP00000371730:T494S	ENSP00000346479:T652S	T	+	2	0	KANK1	702721	1.000000	0.71417	0.950000	0.38849	0.569000	0.35902	7.706000	0.84615	2.836000	0.97738	0.655000	0.94253	ACT	KANK1	-	NULL	ENSG00000107104		0.547	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0	27	0	C	NM_015158		712721	1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.997	G	G	712721	C	G	712721	3	3	112	1	0	0	0	0	1	0	0	0	8003	565	20	5	1961	5	KANK1	9	712721	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		712721	140500710	103	30391											
UBAP2	55833	genome.wustl.edu	37	chr9	33956094	33956094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttgcccaggtaagatGtgattctctgctggagcaga	9	12	11	9	0	1	3	0	1	1	2	2	4	1	4	2	2	4	3	2	2	2	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:33956094G>T	ENST00000379238.1	-	11	966	c.849C>A	c.(847-849)caC>caA	p.H283Q	UBAP2_ENST00000449054.1_Missense_Mutation_p.H283Q|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.H283Q|UBAP2_ENST00000539807.1_Missense_Mutation_p.H38Q|UBAP2_ENST00000418786.2_Missense_Mutation_p.H230Q					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CAGGTAAGATGTGATTCTCTG	0.343																																																	0													116	125	122					9																	33956094		2203	4300	6503	SO:0001583	missense	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.849C>A	9.37:g.33956094G>T	ENSP00000368540:p.His283Gln			Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.H283Q	ENST00000379238.1	37	c.849	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	G	7.448	0.642071	0.14451	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000539807;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T;T	0.31769	2.72;2.72;2.72;2.49;2.18;1.48	5.2	-2.11	0.07187	.	0.211227	0.48286	N	0.000190	T	0.23249	0.0562	M	0.62723	1.935	0.25496	N	0.987598	B;B;B;B;B;B	0.33103	0.002;0.307;0.001;0.001;0.205;0.397	B;B;B;B;B;B	0.30179	0.002;0.112;0.002;0.002;0.052;0.093	T	0.16394	-1.0404	10	0.29301	T	0.29	-0.3642	8.5422	0.33399	0.3888:0.1274:0.4838:0.0	.	230;208;38;192;208;283	E7EWG4;F5H4D5;F5H2U4;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;.;UBAP2_HUMAN	Q	283;283;283;192;201;38;230;230;137	ENSP00000368540:H283Q;ENSP00000416932:H283Q;ENSP00000354039:H283Q;ENSP00000439329:H38Q;ENSP00000404436:H230Q;ENSP00000414800:H230Q	ENSP00000354039:H283Q	H	-	3	2	UBAP2	33946094	0.055000	0.20627	0.003000	0.11579	0.713000	0.41058	-0.177000	0.09796	-0.384000	0.07845	0.491000	0.48974	CAC	UBAP2	-	NULL	ENSG00000137073		0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1		0	76	0	G	NM_018449		33956094	-1			no_errors	ENST00000360802	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.013	T	T	33956094	G	T	33956094	3	4	112	1	0	0	0	0	1	0	0	0	16886	1368	48	3	2586	3	UBAP2	9	33956094	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	33243373	33956094	107257337	104	30392											
FAM75A3	727830	genome.wustl.edu	37	chr9	40705844	40705844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccctttggagaaaacatCaagcaaatttttcagtggat	14	11	8	8	0	2	1	2	0	0	1	2	3	2	2	2	2	3	1	2	2	4	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:40705844C>G	ENST00000356699.5	+	4	3530	c.3501C>G	c.(3499-3501)atC>atG	p.I1167M	RP11-395E19.5_ENST00000432614.1_lincRNA	NM_001083124.1	NP_001076593.1	Q5VYP0	S31A3_HUMAN	SPATA31 subfamily A, member 3	1167					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGAAAACATCAAGCAAATTT	0.433																																																	0													14	12	12					9																	40705844		1432	2875	4307	SO:0001583	missense	0					9p12	2012-10-15	2012-10-12	2012-10-12	ENSG00000147926				32003	protein-coding gene	gene with protein product			"family with sequence similarity 75, member A3"	FAM75A3		20850414	Standard	NM_001083124		Approved	OTTHUMG00000013164, DKFZp434B204	uc010mmj.3	Q5VYP0	OTTHUMG00000013164	ENST00000356699.5:c.3501C>G	9.37:g.40705844C>G	ENSP00000349132:p.Ile1167Met			Missense_Mutation	SNP	NULL	p.I1167M	ENST00000356699.5	37	c.3501	CCDS47969.1	9	.	.	.	.	.	.	.	.	.	.	C	1.646	-0.515158	0.04200	.	.	ENSG00000147926	ENST00000356699	T	0.04706	3.57	2.69	-5.39	0.02664	.	1.808030	0.03316	N	0.191217	T	0.03564	0.0102	N	0.25485	0.75	0.09310	N	1	P	0.34864	0.473	B	0.31751	0.135	T	0.31503	-0.9941	10	0.42905	T	0.14	0.9012	5.7729	0.18263	0.2869:0.1967:0.5164:0.0	.	1167	Q5VYP0	F75A3_HUMAN	M	1167	ENSP00000349132:I1167M	ENSP00000349132:I1167M	I	+	3	3	FAM75A3	40695844	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.100000	0.03339	-1.408000	0.02040	0.398000	0.26397	ATC	SPATA31A3	-	NULL	ENSG00000147926		0.433	SPATA31A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A3	HGNC	protein_coding	OTTHUMT00000036919.1	-	0	85	0	C	NM_001083124		40705844	1	tier1	-	no_errors	ENST00000356699	ensembl	human	known	74_37	missense	25.68	55	19	SNP	0.000	G	G	40705844	C	G	40705844	3	3	112	1	0	0	0	0	1	0	0	0	5643	816	29	5	3515	5	FAM75A3	9	40705844	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	6749750	40705844	100507587	105	30393											
ANKRD20A4	728747	genome.wustl.edu	37	chr9	69420323	69420323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttcagaaaatatatgtGatagtacatcttctgctgct	13	15	6	7	0	3	2	1	1	2	1	3	2	3	2	0	0	4	3	0	0	7	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:69420323G>T	ENST00000357336.3	+	13	1494	c.1213G>T	c.(1213-1215)Gat>Tat	p.D405Y		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	405										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAATATATGTGATAGTACATC	0.313																																																	0													40	69	58					9																	69420323		1319	2258	3577	SO:0001583	missense	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"Ankyrin repeat domain containing"	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1213G>T	9.37:g.69420323G>T	ENSP00000349891:p.Asp405Tyr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D405Y	ENST00000357336.3	37	c.1213	CCDS43828.1	9	.	.	.	.	.	.	.	.	.	.	G	6.288	0.421208	0.11928	.	.	ENSG00000172014	ENST00000357336	T	0.37915	1.17	1.4	0.461	0.16689	.	.	.	.	.	T	0.33147	0.0853	L	0.46157	1.445	0.09310	N	1	D	0.63046	0.992	P	0.47941	0.562	T	0.16689	-1.0394	9	0.54805	T	0.06	.	5.5727	0.17206	0.0:0.3517:0.6483:0.0	.	405	Q4UJ75	A20A4_HUMAN	Y	405	ENSP00000349891:D405Y	ENSP00000349891:D405Y	D	+	1	0	ANKRD20A4	68710143	0.056000	0.20664	0.002000	0.10522	0.003000	0.03518	1.747000	0.38298	0.163000	0.19507	-1.121000	0.02013	GAT	ANKRD20A4	-	NULL	ENSG00000172014		0.313	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3	-	0	87	0	G	NM_001098805		69420323	1	tier1	-	no_errors	ENST00000357336	ensembl	human	known	74_37	missense	12.50	133	19	SNP	0.002	T	T	69420323	G	T	69420323	3	4	112	1	0	0	0	0	1	0	0	0	650	1290	45	3	1263	3	ANKRD20A4	9	69420323	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	28714479	69420323	71793108	106	30394											
TMC1	117531	genome.wustl.edu	37	chr9	75404064	75404064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatcacagaagaaaaagcagCccaagtagaagaaaacgtcc	20	4	8	9	1	1	4	1	0	0	4	2	4	2	4	2	0	3	2	2	0	9	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:75404064C>A	ENST00000297784.5	+	15	1595	c.1055C>A	c.(1054-1056)gCc>gAc	p.A352D	TMC1_ENST00000396237.3_Missense_Mutation_p.A352D|TMC1_ENST00000340019.3_Missense_Mutation_p.A352D	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	352					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GAAAAAGCAGCCCAAGTAGAA	0.368																																					Pancreas(75;173 1345 14232 34245 43413)												0													102	95	97					9																	75404064		2203	4300	6503	SO:0001583	missense	0			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"transmembrane, cochlear expressed, 1"	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1055C>A	9.37:g.75404064C>A	ENSP00000297784:p.Ala352Asp		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.A352D	ENST00000297784.5	37	c.1055	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188648	0.57909	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.52057	0.68;0.68;0.68	6.17	5.23	0.72850	.	0.103621	0.64402	D	0.000007	T	0.29914	0.0748	N	0.11427	0.14	0.35499	D	0.799622	B;B;B	0.30793	0.295;0.295;0.295	B;B;B	0.36666	0.23;0.23;0.23	T	0.34875	-0.9811	10	0.23891	T	0.37	-16.7003	10.0958	0.42475	0.1205:0.6516:0.2279:0.0	.	319;319;352	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	D	352;352;319;319;319;346;352	ENSP00000297784:A352D;ENSP00000341433:A352D;ENSP00000379538:A352D	ENSP00000297784:A352D	A	+	2	0	TMC1	74593884	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	1.746000	0.38288	2.941000	0.99782	0.655000	0.94253	GCC	TMC1	-	NULL	ENSG00000165091		0.368	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	-	0	9	0	C			75404064	1	tier1	-	no_errors	ENST00000297784	ensembl	human	known	74_37	missense	64.29	5	9	SNP	1.000	A	A	75404064	C	A	75404064	3	1	112	1	0	0	0	0	1	0	0	0	16031	739	26	3	1097	3	TMC1	9	75404064	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	5983741	75404064	65809367	107	30395											
SLC44A1	23446	genome.wustl.edu	37	chr9	108127763	108127763	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtcattttttaaataGggataaaaggaatttgccat	13	17	8	3	0	1	0	1	0	0	0	1	2	1	2	1	3	1	0	1	3	6	8			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:108127763G>C	ENST00000374720.3	+	11	1500		c.e11-1		SLC44A1_ENST00000374724.1_Splice_Site|SLC44A1_ENST00000343170.7_Splice_Site|SLC44A1_ENST00000374723.1_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1						choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTTTAAATAGGGATAAAAGG	0.363																																																	0													65	67	66					9																	108127763		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"CD molecules", "Solute carriers"	18798	protein-coding gene	gene with protein product		606105	"CDW92 antigen"	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1254-1G>C	9.37:g.108127763G>C			A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Splice_Site	SNP	-	e11-1	ENST00000374720.3	37	c.1254-1	CCDS6763.1	9	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621978	0.87460	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1064	0.97896	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC44A1	107167584	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	9.831000	0.99420	2.745000	0.94114	0.650000	0.86243	.	SLC44A1	-	-	ENSG00000070214		0.363	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC44A1	HGNC	protein_coding	OTTHUMT00000053500.1	-	0	98	0	G	NM_080546	Intron	108127763	1	tier1	-	no_errors	ENST00000374720	ensembl	human	known	74_37	splice_site	34.74	59	33	SNP	1.000	C	C	108127763	G	C	108127763	5	2	112	1	0	0	0	0	0	0	1	0	14680	1014	35	5	1295	5	SLC44A1	9	108127763	Splice_Site	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	32723699	108127763	33085668	108	30396											
PALM2	114299	genome.wustl.edu	37	chr9	112642907	112642907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggaagccaggaggcGgcagtctgaagaggatgagt	13	4	19	5	1	1	4	0	2	1	2	1	8	1	8	1	6	1	1	1	6	2	0	rs145553769		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:112642907G>A	ENST00000374531.2	+	4	283	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	PALM2_ENST00000448454.2_Missense_Mutation_p.R70Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R68Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R68Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R68Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R68Q|PALM2_ENST00000483909.1_Missense_Mutation_p.R68Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R68Q	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	70				Missing (in Ref. 2; BAC04472). {ECO:0000305}.	regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GCCAGGAGGCGGCAGTCTGAA	0.532																																																	0													97	92	94					9																	112642907		2203	4300	6503	SO:0001583	missense	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.209G>A	9.37:g.112642907G>A	ENSP00000363656:p.Arg70Gln		A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.R68Q	ENST00000374531.2	37	c.203	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113087	0.77210	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16;2.16	5.36	5.36	0.76844	.	1.101910	0.06975	N	0.818864	T	0.41903	0.1179	L	0.60455	1.87	0.24342	N	0.994951	D;D;P;D	0.76494	0.999;0.999;0.898;0.958	P;P;B;B	0.62014	0.897;0.897;0.15;0.207	T	0.27872	-1.0061	10	0.87932	D	0	-21.832	10.4041	0.44246	0.0892:0.0:0.9108:0.0	.	68;68;70;70	Q9Y2D5-6;Q9Y2D5-4;Q8IXS6;D3YTA4	.;.;PALM2_HUMAN;.	Q	70;70;68;68;54;68;68;68;68;68	ENSP00000363656:R70Q;ENSP00000400206:R70Q;ENSP00000417525:R68Q;ENSP00000323805:R68Q;ENSP00000419747:R54Q;ENSP00000363654:R68Q;ENSP00000397839:R68Q;ENSP00000305861:R68Q;ENSP00000451476:R68Q;ENSP00000421522:R68Q	ENSP00000305861:R68Q	R	+	2	0	PALM2-AKAP2;PALM2;AKAP2	111682728	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.176000	0.42500	2.693000	0.91896	0.650000	0.86243	CGG	PALM2-AKAP2	-	pfam_Paralemmin	ENSG00000157654		0.532	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000053604.1	-	0	32	0	G	NM_001037293		112642907	1	tier1	-	no_errors	ENST00000374530	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A	A	112642907	G	A	112642907	3	1	112	1	0	0	0	0	1	0	0	0	11448	1116	39	1	223	1	PALM2	9	112642907	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	4515144	112642907	28570524	109	30397											
DFNB31	25861	genome.wustl.edu	37	chr9	117168862	117168862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggtgttggttgaccaggGccagatgggcgtccagcggc	5	8	19	9	2	0	2	0	1	0	1	1	2	1	2	3	6	1	2	3	6	0	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:117168862G>A	ENST00000362057.3	-	9	2177	c.2009C>T	c.(2008-2010)gCc>gTc	p.A670V	DFNB31_ENST00000265134.6_Missense_Mutation_p.A287V|DFNB31_ENST00000374059.3_Missense_Mutation_p.A319V	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	670	Pro-rich.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTGACCAGGGCCAGATGGGC	0.667																																																	0													56	66	63					9																	117168862		2203	4300	6503	SO:0001583	missense	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"whirlin"	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2009C>T	9.37:g.117168862G>A	ENSP00000354623:p.Ala670Val		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A670V	ENST00000362057.3	37	c.2009	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534400	0.45073	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.07327	4.08;4.06;3.2	5.06	5.06	0.68205	.	0.382721	0.26975	N	0.021550	T	0.13713	0.0332	L	0.54323	1.7	0.80722	D	1	P;P;P	0.48911	0.917;0.862;0.843	P;B;P	0.47346	0.501;0.293;0.544	T	0.00643	-1.1630	10	0.52906	T	0.07	-31.5057	12.8304	0.57742	0.0788:0.0:0.9212:0.0	.	670;670;319	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	V	287;319;670	ENSP00000265134:A287V;ENSP00000363172:A319V;ENSP00000354623:A670V	ENSP00000265134:A287V	A	-	2	0	DFNB31	116208683	1.000000	0.71417	1.000000	0.80357	0.008000	0.06430	7.215000	0.77966	2.354000	0.79902	0.591000	0.81541	GCC	DFNB31	-	NULL	ENSG00000095397		0.667	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	-	0	79	0	G	NM_015404		117168862	-1	tier1	-	no_errors	ENST00000362057	ensembl	human	known	74_37	missense	53.85	36	42	SNP	0.998	A	A	117168862	G	A	117168862	3	1	112	1	0	0	0	0	1	0	0	0	4469	1203	42	3	730	3	DFNB31	9	117168862	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	4525955	117168862	24044569	110	30398											
NDUFA8	4702	genome.wustl.edu	37	chr9	124914553	124914553	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagcacacttgttgacCagtttgccttcctctaaaca	11	12	5	13	0	1	1	0	1	1	0	3	1	3	1	4	0	3	3	4	0	3	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:124914553C>A	ENST00000373768.3	-	2	327	c.186G>T	c.(184-186)ctG>ctT	p.L62L	NDUFA8_ENST00000537618.1_Silent_p.L62L	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	62	CHCH 1.				cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						ACTTGTTGACCAGTTTGCCTT	0.443																																																	0													113	100	104					9																	124914553		2203	4300	6503	SO:0001819	synonymous_variant	0			AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"Mitochondrial respiratory chain complex / Complex I"	7692	protein-coding gene	gene with protein product	"complex I PGIV subunit"	603359	"NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.186G>T	9.37:g.124914553C>A			B1AM93|Q9Y6N0	Silent	SNP	pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8	p.L62	ENST00000373768.3	37	c.186	CCDS6835.1	9																																																																																			NDUFA8	-	pirsf_NADH_Ub_cplx-1_asu_su-8	ENSG00000119421		0.443	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA8	HGNC	protein_coding	OTTHUMT00000053909.1	-	0	23	0	C	NM_014222		124914553	-1	tier1	-	no_errors	ENST00000373768	ensembl	human	known	74_37	silent	30.56	25	11	SNP	0.998	A	A	124914553	C	A	124914553	2	1	112	1	0	0	0	0	0	0	0	1	10310	581	21	3		3	NDUFA8	9	124914553	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	7745691	124914553	16298878	111	30399											
NUP214	8021	genome.wustl.edu	37	chr9	134019999	134019999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtctcctgtggctccatcaGctgcttcattctcctttgga	4	15	8	14	1	4	0	2	0	2	0	7	1	5	1	3	2	2	3	3	2	0	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:134019999G>A	ENST00000359428.5	+	12	1771	c.1627G>A	c.(1627-1629)Gct>Act	p.A543T	NUP214_ENST00000411637.2_Missense_Mutation_p.A543T|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.A543T|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	543	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGCTCCATCAGCTGCTTCATT	0.542			T	"DEK, SET, ABL1"	"AML, T-ALL"																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													80	77	78					9																	134019999		2203	4300	6503	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"nuclear pore complex protein Nup214", "CAN protein, putative oncogene"	114350	"nucleoporin 214kD (CAIN)"			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1627G>A	9.37:g.134019999G>A	ENSP00000352400:p.Ala543Thr		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.A543T	ENST00000359428.5	37	c.1627	CCDS6940.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.43|13.43	2.234466|2.234466	0.39498|0.39498	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899|ENST00000530863	T;T;T|T	0.34667|0.76316	1.38;1.35;1.36|-1.01	5.55|5.55	1.47|1.47	0.22746|0.22746	.|.	0.000000|.	0.42821|.	D|.	0.000652|.	T|T	0.52419|0.52419	0.1733|0.1733	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.24426|.	0.103;0.103|.	B;B|.	0.24848|.	0.056;0.056|.	T|T	0.36187|0.36187	-0.9758|-0.9758	10|7	0.29301|0.17369	T|T	0.29|0.5	-2.5165|-2.5165	5.3182|5.3182	0.15866|0.15866	0.073:0.2657:0.5238:0.1375|0.073:0.2657:0.5238:0.1375	.|.	543;543|.	P35658-4;P35658|.	.;NU214_HUMAN|.	T|N	543;543;543;543;136|118	ENSP00000352400:A543T;ENSP00000396576:A543T;ENSP00000405014:A543T|ENSP00000434223:S118N	ENSP00000352400:A543T|ENSP00000434223:S118N	A|S	+|+	1|2	0|0	NUP214|NUP214	133009820|133009820	0.155000|0.155000	0.22806|0.22806	0.002000|0.002000	0.10522|0.10522	0.450000|0.450000	0.32258|0.32258	1.465000|1.465000	0.35299|0.35299	0.004000|0.004000	0.14682|0.14682	0.655000|0.655000	0.94253|0.94253	GCT|AGC	NUP214	-	NULL	ENSG00000126883		0.542	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	-	0	32	0	G	NM_005085		134019999	1	tier1	-	no_errors	ENST00000451030	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.008	A	A	134019999	G	A	134019999	3	1	112	1	0	0	0	0	1	0	0	0	10801	971	34	3	1673	3	NUP214	9	134019999	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	9105446	134019999	7193432	112	30400											
RAPGEF1	2889	genome.wustl.edu	37	chr9	134501526	134501526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgcgagggatgccgctcGtaggacaccctgcagccaga	9	6	13	13	3	0	1	0	0	0	1	1	4	0	3	3	2	5	3	3	2	2	2	rs368148839	byFrequency	TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr9:134501526G>A	ENST00000372189.3	-	10	1557	c.1434C>T	c.(1432-1434)taC>taT	p.Y478Y	RAPGEF1_ENST00000372190.3_Silent_p.Y496Y|RAPGEF1_ENST00000372195.1_Silent_p.Y495Y|RAPGEF1_ENST00000481260.1_5'Flank	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	478					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GATGCCGCTCGTAGGACACCC	0.652													G|||	2	0.000399361	0	0	5008	,	,		17014	0.002		0	False		,,,				2504	0																0													41	49	46					9																	134501526		2063	4203	6266	SO:0001819	synonymous_variant	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1434C>T	9.37:g.134501526G>A			Q5JUE4|Q8IV73	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y496	ENST00000372189.3	37	c.1488	CCDS48047.1	9																																																																																			RAPGEF1	-	NULL	ENSG00000107263		0.652	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	-	0	60	0	G	NM_005312		134501526	-1	tier1	-	no_errors	ENST00000372190	ensembl	human	known	74_37	silent	31.03	40	18	SNP	0.864	A	A	134501526	G	A	134501526	2	1	112	1	0	0	0	0	0	0	0	1	13088	1140	40	1		1	RAPGEF1	9	134501526	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	481527	134501526	6711905	113	30401											
C10orf140	387640	genome.wustl.edu	37	chr10	21805720	21805720	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtggtggtgAtggtggtggtggtggtggtg	1	14	26	0	0	0	1	0	1	0	0	0	1	0	1	0	12	0	0	0	12	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr10:21805720A>G	ENST00000449193.2	-	4	3284	c.1032T>C	c.(1030-1032)caT>caC	p.H344H	SKIDA1_ENST00000444772.3_Silent_p.H265H|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	263	Glu-rich.|Ser-rich.					nucleus (GO:0005634)											ggtggtggtgatggtggtggt	0.716																																																	0													4	6	5					10																	21805720		1658	3602	5260	SO:0001819	synonymous_variant	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 140"	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1032T>C	10.37:g.21805720A>G			B1ANA5|Q6ZMX4|Q8N3C3	Silent	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.H344	ENST00000449193.2	37	c.1032	CCDS44363.1	10																																																																																			SKIDA1	-	NULL	ENSG00000180592		0.716	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIDA1	HGNC	protein_coding	OTTHUMT00000286950.2		0	74	0	A	NM_207371		21805720	-1			no_errors	ENST00000449193	ensembl	human	known	74_37	silent	5.97	63	4	SNP	0.972	G	G	21805720	A	G	21805720	2	3	112	1	0	0	0	0	0	0	0	1	1600	330	12	4		4	C10orf140	10	21805720	Silent	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09		21805720	113729027	114	30402											
NCOA4	8031	genome.wustl.edu	37	chr10	51584855	51584855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataagctgcggaagcctgaGaatggcagtcgtgaaaccag	13	6	13	9	2	0	2	0	2	0	1	1	4	0	3	2	2	4	2	2	2	4	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr10:51584855G>C	ENST00000443446.1	+	8	1183	c.954G>C	c.(952-954)gaG>gaC	p.E318D	NCOA4_ENST00000414907.2_Missense_Mutation_p.E152D|NCOA4_ENST00000438493.1_Missense_Mutation_p.E334D|NCOA4_ENST00000452682.1_Missense_Mutation_p.E334D|NCOA4_ENST00000374082.1_Missense_Mutation_p.E318D|NCOA4_ENST00000344348.6_Missense_Mutation_p.E318D|NCOA4_ENST00000374087.4_Missense_Mutation_p.E318D|NCOA4_ENST00000430396.2_Missense_Mutation_p.E218D	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	318					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GGAAGCCTGAGAATGGCAGTC	0.463			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	0													85	85	85					10																	51584855		2203	4300	6503	SO:0001583	missense	0			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"RET-activating gene ELE1"	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.954G>C	10.37:g.51584855G>C	ENSP00000390713:p.Glu318Asp		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	pfam_ARA70	p.E334D	ENST00000443446.1	37	c.1002	CCDS7237.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.13|11.13	1.548970|1.548970	0.27652|0.27652	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|T	0.32753|0.32515	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44|1.45	5.96|5.96	1.89|1.89	0.25635|0.25635	.|.	0.709437|0.709437	0.15140|0.15140	N|N	0.278331|0.278331	T|T	0.27098|0.27098	0.0664|0.0664	L|L	0.53249|0.53249	1.67|1.67	0.19300|0.19300	N|N	0.999977|0.999977	P;P;P;P|.	0.43938|.	0.822;0.722;0.822;0.549|.	P;P;P;P|.	0.45998|.	0.5;0.5;0.5;0.5|.	T|T	0.23583|0.23583	-1.0184|-1.0184	9|7	.|.	.|.	.|.	0.0137|0.0137	1.2956|1.2956	0.02069|0.02069	0.2289:0.2903:0.3325:0.1483|0.2289:0.2903:0.3325:0.1483	.|.	218;334;334;318|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	D|Q	334;334;218;318;152;318;318;318|234	ENSP00000405146:E334D;ENSP00000395465:E334D;ENSP00000393053:E218D;ENSP00000363200:E318D;ENSP00000411018:E152D;ENSP00000344552:E318D;ENSP00000363195:E318D;ENSP00000390713:E318D|ENSP00000400928:E234Q	.|.	E|E	+|+	3|1	2|0	NCOA4|NCOA4	51254861|51254861	0.987000|0.987000	0.35691|0.35691	0.073000|0.073000	0.20177|0.20177	0.356000|0.356000	0.29392|0.29392	0.995000|0.995000	0.29706|0.29706	0.087000|0.087000	0.17167|0.17167	0.655000|0.655000	0.94253|0.94253	GAG|GAA	NCOA4	-	pfam_ARA70	ENSG00000138293		0.463	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA4	HGNC	protein_coding	OTTHUMT00000048052.1	-	0	58	0	G	NM_005437		51584855	1	tier1	-	no_errors	ENST00000452682	ensembl	human	known	74_37	missense	21.21	52	14	SNP	0.471	C	C	51584855	G	C	51584855	3	2	112	1	0	0	0	0	1	0	0	0	10270	933	33	5	1032	5	NCOA4	10	51584855	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	29779135	51584855	83949892	115	30403											
ANK3	288	genome.wustl.edu	37	chr10	61932103	61932103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcggtcactatcttcaggGtgtccactactgagatgtag	8	13	10	10	1	3	1	2	1	1	1	5	2	4	1	1	2	1	1	1	2	3	5	rs374740918		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr10:61932103G>A	ENST00000280772.2	-	21	2632	c.2441C>T	c.(2440-2442)aCc>aTc	p.T814I	ANK3_ENST00000373827.2_Missense_Mutation_p.T808I|ANK3_ENST00000503366.1_Missense_Mutation_p.T797I	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	814					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T475I(1)|p.T814I(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATCTTCAGGGTGTCCACTAC	0.488																																																	2	Substitution - Missense(2)	lung(2)						G	ILE/THR,ILE/THR,ILE/THR	1,4405	2.1+/-5.4	0,1,2202	132	123	126		2423,2390,2441	5.8	1	10		126	0,8600		0,0,4300	no	missense,missense,missense	ANK3	NM_001204403.1,NM_001204404.1,NM_020987.3	89,89,89	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	808/1862,797/1869,814/4378	61932103	1,13005	2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2441C>T	10.37:g.61932103G>A	ENSP00000280772:p.Thr814Ile		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.T814I	ENST00000280772.2	37	c.2441	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405461	0.83230	2.27E-4	0.0	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.18960	2.44;2.18;2.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (3);	0.000000	0.40302	N	0.001140	T	0.28764	0.0713	N	0.04373	-0.215	0.80722	D	1	B;D;D;D;P	0.89917	0.082;0.997;1.0;1.0;0.79	B;D;D;D;B	0.97110	0.046;0.987;0.996;1.0;0.343	T	0.48636	-0.9018	10	0.87932	D	0	.	20.0175	0.97485	0.0:0.0:1.0:0.0	.	797;475;358;808;814	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	I	814;808;797;776;49;475;470;358	ENSP00000280772:T814I;ENSP00000362933:T808I;ENSP00000425236:T797I	ENSP00000280772:T814I	T	-	2	0	ANK3	61602109	1.000000	0.71417	0.983000	0.44433	0.788000	0.44548	7.943000	0.87716	2.730000	0.93505	0.650000	0.86243	ACC	ANK3	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000151150		0.488	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0	39	0	G	NM_020987		61932103	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	A	A	61932103	G	A	61932103	3	1	112	1	0	0	0	0	1	0	0	0	622	1261	44	3	11117	3	ANK3	10	61932103	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	10347248	61932103	73602644	116	30404											
VCL	7414	genome.wustl.edu	37	chr10	75758009	75758009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgagagcatcctggagcCggtggcacagcagatctccc	9	6	13	13	2	1	2	0	0	1	2	4	5	2	3	3	3	3	3	3	3	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr10:75758009C>T	ENST00000211998.4	+	1	138	c.44C>T	c.(43-45)cCg>cTg	p.P15L	VCL_ENST00000372755.3_Missense_Mutation_p.P15L|VCL_ENST00000417648.2_Missense_Mutation_p.P15L|VCL_ENST00000478896.2_3'UTR	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	15	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATCCTGGAGCCGGTGGCACAG	0.672																																																	0													39	30	33					10																	75758009		2203	4300	6503	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"metavinculin"	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.44C>T	10.37:g.75758009C>T	ENSP00000211998:p.Pro15Leu		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.P15L	ENST00000211998.4	37	c.44	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.260885	0.95368	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000417648	T;T;T	0.52983	0.64;0.64;0.64	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000001	T	0.70482	0.3229	M	0.79926	2.475	0.49130	D	0.999752	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;0.959;1.0	T	0.76539	-0.2922	10	0.87932	D	0	.	16.6521	0.85219	0.0:1.0:0.0:0.0	.	15;15;15	B4DTM7;P18206-2;P18206	.;.;VINC_HUMAN	L	15	ENSP00000361841:P15L;ENSP00000211998:P15L;ENSP00000411887:P15L	ENSP00000211998:P15L	P	+	2	0	VCL	75428015	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.889000	0.75627	2.245000	0.73994	0.313000	0.20887	CCG	VCL	-	pfam_Vinculin/catenin	ENSG00000035403		0.672	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	0	83	0	C	NM_003373, NM_014000		75758009	1	tier1	-	no_errors	ENST00000211998	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	T	T	75758009	C	T	75758009	3	4	112	1	0	0	0	0	1	0	0	0	17188	652	23	1	46	1	VCL	10	75758009	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	13825906	75758009	59776738	117	30405											
OAT	4942	genome.wustl.edu	37	chr10	126097158	126097158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgaatgcccttcacggtaTagccccacttacgagctagt	9	11	8	13	2	2	1	1	1	1	0	2	2	2	1	3	1	4	2	3	1	5	5	rs386833611		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr10:126097158T>C	ENST00000368845.5	-	4	565	c.473A>G	c.(472-474)tAt>tGt	p.Y158C	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Missense_Mutation_p.Y20C	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	158					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	CTTCACGGTATAGCCCCACTT	0.333																																																	0													67	67	67					10																	126097158		2203	4300	6503	SO:0001583	missense	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"Ornithine aminotransferase", "ornithine aminotransferase precursor", "gyrate atrophy"	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.473A>G	10.37:g.126097158T>C	ENSP00000357838:p.Tyr158Cys		D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Missense_Mutation	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	p.Y158C	ENST00000368845.5	37	c.473	CCDS7639.1	10	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817829	0.50633	.	.	ENSG00000065154	ENST00000539214;ENST00000368845	D;D	0.87256	-2.23;-2.23	5.07	5.07	0.68467	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.92583	0.7644	M	0.87269	2.87	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	D	0.93393	0.6753	10	0.87932	D	0	-28.7143	10.7525	0.46217	0.142:0.0:0.0:0.858	.	158	P04181	OAT_HUMAN	C	20;158	ENSP00000439042:Y20C;ENSP00000357838:Y158C	ENSP00000357838:Y158C	Y	-	2	0	OAT	126087148	1.000000	0.71417	0.427000	0.26684	0.381000	0.30169	5.820000	0.69250	2.223000	0.72356	0.455000	0.32223	TAT	OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans	ENSG00000065154		0.333	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0	63	0	T	NM_000274		126097158	-1	tier1	-	no_errors	ENST00000368845	ensembl	human	known	74_37	missense	28.07	41	16	SNP	0.923	C	C	126097158	T	C	126097158	3	2	112	1	0	0	0	0	1	0	0	0	10842	1406	49	4	874	4	OAT	10	126097158	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	50339149	126097158	9437589	118	30406											
CDHR5	53841	genome.wustl.edu	37	chr11	617432	617432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccctcatcgccgctgccGgagtcactggcgccatccac	5	7	10	19	5	2	0	2	0	0	0	5	1	3	1	5	2	1	1	5	2	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr11:617432G>A	ENST00000358353.3	-	16	2779	c.2457C>T	c.(2455-2457)tcC>tcT	p.S819S	IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000348655.6_5'Flank|CDHR5_ENST00000397542.2_Silent_p.S819S|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000349570.7_Silent_p.S625S|IRF7_ENST00000525445.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	819					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CGCCGCTGCCGGAGTCACTGG	0.677																																																	0													37	32	34					11																	617432		2203	4300	6503	SO:0001819	synonymous_variant	0			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"Cadherins / Cadherin-related"	7521	protein-coding gene	gene with protein product		606839	"mucin and cadherin-like", "mucin-like protocadherin"	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2457C>T	11.37:g.617432G>A			C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.S819	ENST00000358353.3	37	c.2457	CCDS7707.1	11																																																																																			CDHR5	-	NULL	ENSG00000099834		0.677	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	-	0	43	0	G	NM_021924		617432	-1	tier1	-	no_errors	ENST00000358353	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.000	A	A	617432	G	A	617432	2	1	112	1	0	0	0	0	0	0	0	1	3129	1103	39	1		1	CDHR5	11	617432	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		617432	134389084	119	30407											
OR52L1	338751	genome.wustl.edu	37	chr11	6007674	6007674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccagcaccaccattcCgatgcaccctatgacccctg	9	7	5	20	1	1	1	1	1	0	0	2	2	2	1	8	0	2	2	8	0	1	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr11:6007674C>T	ENST00000332249.4	-	1	541	c.487G>A	c.(487-489)Gga>Aga	p.G163R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCACCATTCCGATGCACCCT	0.517																																					Melanoma(121;653 1666 10547 22796 51255)												0													81	77	78					11																	6007674		2033	4188	6221	SO:0001583	missense	0			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"GPCR / Class A : Olfactory receptors"	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.487G>A	11.37:g.6007674C>T	ENSP00000330338:p.Gly163Arg		B2RPA6|Q6IFK9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G163R	ENST00000332249.4	37	c.487	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924760	0.18056	.	.	ENSG00000183313	ENST00000332249	T	0.37411	1.2	3.85	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.165132	0.28790	N	0.014132	T	0.68109	0.2965	H	0.97564	4.03	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.61038	-0.7143	10	0.87932	D	0	.	8.5008	0.33156	0.0:0.7983:0.0:0.2017	.	163	Q8NGH7	O52L1_HUMAN	R	163	ENSP00000330338:G163R	ENSP00000330338:G163R	G	-	1	0	OR52L1	5964250	0.002000	0.14202	0.028000	0.17463	0.022000	0.10575	-0.229000	0.09098	0.735000	0.32537	-0.671000	0.03813	GGA	OR52L1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183313		0.517	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	-	0	64	0	C	NM_001005173		6007674	-1	tier1	-	no_errors	ENST00000332249	ensembl	human	known	74_37	missense	31.71	28	13	SNP	0.046	T	T	6007674	C	T	6007674	3	4	112	1	0	0	0	0	1	0	0	0	11164	661	23	1	506	1	OR52L1	11	6007674	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	5390242	6007674	128998842	120	30408											
ZNF214	7761	genome.wustl.edu	37	chr11	7021545	7021545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctctgatgaatgcgaaGatctgagctgtgactaaagt	12	11	11	7	1	2	5	0	4	2	1	3	7	2	5	0	0	2	1	0	0	4	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr11:7021545G>T	ENST00000278314.4	-	3	1684	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	ZNF214_ENST00000531083.1_5'Flank|ZNF214_ENST00000536068.1_Missense_Mutation_p.L457I	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGAATGCGAAGATCTGAGCTG	0.433																																					Ovarian(22;251 657 736 21522 46864)												0													121	124	123					11																	7021545		2201	4296	6497	SO:0001583	missense	0			AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"Zinc fingers, C2H2-type", "-"	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1369C>A	11.37:g.7021545G>T	ENSP00000278314:p.Leu457Ile		B2R8Q1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L457I	ENST00000278314.4	37	c.1369	CCDS31418.1	11	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457653	0.63401	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.53857	0.6;0.6	4.05	4.05	0.47172	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38058	N	0.001828	T	0.78381	0.4274	M	0.93150	3.385	0.26617	N	0.972736	D	0.89917	1.0	D	0.85130	0.997	T	0.73477	-0.3970	10	0.72032	D	0.01	.	14.5016	0.67724	0.0:0.0:1.0:0.0	.	457	Q9UL59	ZN214_HUMAN	I	457	ENSP00000278314:L457I;ENSP00000445373:L457I	ENSP00000278314:L457I	L	-	1	0	ZNF214	6978121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.969000	0.49232	2.536000	0.85505	0.561000	0.74099	CTT	ZNF214	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000149050		0.433	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF214	HGNC	protein_coding	OTTHUMT00000385349.1		0	52	0	G			7021545	-1			no_errors	ENST00000278314	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T	T	7021545	G	T	7021545	3	4	112	1	0	0	0	0	1	0	0	0	17818	942	33	3	455	3	ZNF214	11	7021545	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1013871	7021545	127984971	121	30409											
LIN7C	55327	genome.wustl.edu	37	chr11	27523398	27523398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggactctttgcaaagccTgaagtttctgtggtggtact	9	13	12	7	0	2	1	0	1	2	0	2	3	2	2	1	3	3	3	1	3	4	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr11:27523398T>C	ENST00000278193.2	-	2	127	c.107A>G	c.(106-108)cAg>cGg	p.Q36R	LIN7C_ENST00000524596.1_Missense_Mutation_p.Q36R	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	36	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)			endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTGCAAAGCCTGAAGTTTCTG	0.338																																																	0													91	88	89					11																	27523398		2201	4297	6498	SO:0001583	missense	0			AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"LIN-7 protein 3"	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.107A>G	11.37:g.27523398T>C	ENSP00000278193:p.Gln36Arg			Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.Q36R	ENST00000278193.2	37	c.107	CCDS7864.1	11	.	.	.	.	.	.	.	.	.	.	T	19.39	3.817638	0.70912	.	.	ENSG00000148943	ENST00000278193;ENST00000524596	T;T	0.19938	2.29;2.11	5.69	5.69	0.88448	L27, C-terminal (1);L27 (2);	0.048881	0.85682	D	0.000000	T	0.16896	0.0406	L	0.34521	1.04	0.80722	D	1	P;P	0.37731	0.552;0.607	B;B	0.36335	0.211;0.222	T	0.05533	-1.0879	10	0.12430	T	0.62	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	36;36	G3V1D4;Q9NUP9	.;LIN7C_HUMAN	R	36	ENSP00000278193:Q36R;ENSP00000435353:Q36R	ENSP00000278193:Q36R	Q	-	2	0	LIN7C	27479974	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.997000	0.88414	2.291000	0.77112	0.533000	0.62120	CAG	LIN7C	-	pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27	ENSG00000148943		0.338	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7C	HGNC	protein_coding	OTTHUMT00000388311.2	-	0	65	0	T	NM_018362		27523398	-1	tier1	-	no_errors	ENST00000278193	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	C	C	27523398	T	C	27523398	3	2	112	1	0	0	0	0	1	0	0	0	8842	1580	55	4	502	4	LIN7C	11	27523398	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	20501853	27523398	107483118	122	30410											
OR4A16	81327	genome.wustl.edu	37	chr11	55110883	55110883	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtcacttatggatgcCatatattccactgccatgtc	9	15	6	11	0	1	0	1	0	0	0	3	1	2	1	3	1	3	0	3	1	4	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr11:55110883C>A	ENST00000314721.2	+	1	257	c.207C>A	c.(205-207)gcC>gcA	p.A69A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTATGGATGCCATATATTCCA	0.453																																																	0													196	179	184					11																	55110883		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"GPCR / Class A : Olfactory receptors"	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.207C>A	11.37:g.55110883C>A			Q6IFL3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A69	ENST00000314721.2	37	c.207	CCDS31499.1	11																																																																																			OR4A16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181961		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A16	HGNC	protein_coding	OTTHUMT00000391160.1	-	0	45	0	C	NM_001005274		55110883	1	tier1	-	no_errors	ENST00000314721	ensembl	human	known	74_37	silent	14.58	41	7	SNP	0.003	A	A	55110883	C	A	55110883	2	1	112	1	0	0	0	0	0	0	0	1	11080	581	21	3		3	OR4A16	11	55110883	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	27587485	55110883	79895633	123	30411											
PRG3	10394	genome.wustl.edu	37	chr11	57147010	57147010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtccgcaccaataggtagCggcagatcttgcaccttgga	10	8	12	11	2	1	1	0	0	1	1	2	3	2	2	3	3	2	4	3	3	3	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr11:57147010C>T	ENST00000287143.2	-	3	441	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						CAATAGGTAGCGGCAGATCTT	0.532																																					Melanoma(154;1456 2519 19358 45229)												0													128	126	127					11																	57147010		2201	4296	6497	SO:0001583	missense	0			AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.332G>A	11.37:g.57147010C>T	ENSP00000287143:p.Arg111His		Q5VX23|Q9NXE2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	p.R111H	ENST00000287143.2	37	c.332	CCDS7954.1	11	.	.	.	.	.	.	.	.	.	.	C	8.927	0.962469	0.18583	.	.	ENSG00000156575	ENST00000287143	T	0.39787	1.06	5.27	-10.5	0.00291	C-type lectin fold (1);C-type lectin (1);	1.246370	0.05475	N	0.553753	T	0.31009	0.0783	L	0.49455	1.56	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.23904	-1.0175	10	0.15066	T	0.55	-0.2423	12.365	0.55224	0.0:0.3303:0.0792:0.5905	.	111	Q9Y2Y8	PRG3_HUMAN	H	111	ENSP00000287143:R111H	ENSP00000287143:R111H	R	-	2	0	PRG3	56903586	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.435000	0.00234	-3.785000	0.00107	-2.153000	0.00332	CGC	PRG3	-	superfamily_C-type_lectin_fold,smart_C-type_lectin	ENSG00000156575		0.532	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG3	HGNC	protein_coding	OTTHUMT00000392467.1	-	0	63	0	C	NM_006093		57147010	-1	tier1	-	no_errors	ENST00000287143	ensembl	human	known	74_37	missense	25.00	36	12	SNP	0.000	T	T	57147010	C	T	57147010	3	4	112	1	0	0	0	0	1	0	0	0	12522	768	27	1	361	1	PRG3	11	57147010	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	2036127	57147010	77859506	124	30412											
SERPINH1	871	genome.wustl.edu	37	chr11	75277524	75277524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaaggcggccacgcttGccgagcgcagcgccggcctg	5	3	15	18	6	0	0	0	0	0	0	0	1	0	0	6	3	3	2	6	3	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr11:75277524G>A	ENST00000524558.1	+	2	1565	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	SERPINH1_ENST00000525876.1_5'Flank|SERPINH1_ENST00000530284.1_Missense_Mutation_p.A44T|SERPINH1_ENST00000358171.3_Missense_Mutation_p.A44T|SERPINH1_ENST00000533603.1_Missense_Mutation_p.A44T			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	44					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGCCACGCTTGCCGAGCGCAG	0.682																																																	0													32	26	28					11																	75277524		2199	4293	6492	SO:0001583	missense	0			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"Serine (or cysteine) peptidase inhibitors"	1546	protein-coding gene	gene with protein product		600943	"serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2", "serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.130G>A	11.37:g.75277524G>A	ENSP00000434412:p.Ala44Thr		B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.A44T	ENST00000524558.1	37	c.130	CCDS8239.1	11	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210693	0.58343	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000526242;ENST00000526397;ENST00000421448;ENST00000529643;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000528990;ENST00000533449;ENST00000525611;ENST00000528760	D;D;D;D;T;D;D;D;T;D;D	0.88509	-2.39;-2.39;-1.74;-2.39;-0.95;-2.39;-2.39;-2.39;-0.95;-2.39;-2.39	4.76	4.76	0.60689	Serpin domain (1);	0.106432	0.64402	D	0.000005	D	0.90338	0.6977	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	D	0.88527	0.3100	10	0.29301	T	0.29	.	15.3136	0.74056	0.0:0.0:1.0:0.0	.	44;44	E9PPV6;P50454	.;SERPH_HUMAN	T	44;44;19;44;44;44;44;44;44;44;44;44;44	ENSP00000434657:A44T;ENSP00000350894:A44T;ENSP00000431384:A19T;ENSP00000434964:A44T;ENSP00000435936:A44T;ENSP00000436305:A44T;ENSP00000436040:A44T;ENSP00000434412:A44T;ENSP00000431827:A44T;ENSP00000435452:A44T;ENSP00000437108:A44T	ENSP00000350894:A44T	A	+	1	0	SERPINH1	74955172	1.000000	0.71417	0.951000	0.38953	0.119000	0.20118	7.434000	0.80377	2.470000	0.83445	0.563000	0.77884	GCC	SERPINH1	-	superfamily_Serpin_dom	ENSG00000149257		0.682	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINH1	HGNC	protein_coding	OTTHUMT00000383610.1	-	0	51	0	G	NM_004353		75277524	1	tier1	-	no_errors	ENST00000358171	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	A	A	75277524	G	A	75277524	3	1	112	1	0	0	0	0	1	0	0	0	14162	1319	46	3	132	3	SERPINH1	11	75277524	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	18130514	75277524	59728992	125	30413											
TAS2R31	259290	genome.wustl.edu	37	chr12	11183889	11183889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatttccaataacaaataGaaccactaccacactggaaa	21	7	3	10	0	0	1	0	0	0	1	1	2	1	2	3	1	3	0	3	1	9	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr12:11183889G>C	ENST00000390675.2	-	1	117	c.46C>G	c.(46-48)Cta>Gta	p.L16V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	16					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						ATAACAAATAGAACCACTACC	0.373																																																	0													44	45	45					12																	11183889		1873	4128	6001	SO:0001583	missense	0			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	19113	protein-coding gene	gene with protein product		612669	"taste receptor, type 2, member 44"	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.46C>G	12.37:g.11183889G>C	ENSP00000375093:p.Leu16Val		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L16V	ENST00000390675.2	37	c.46	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	T	8.383	0.837947	0.16891	.	.	ENSG00000256436	ENST00000390675	T	0.37235	1.21	2.29	-0.117	0.13551	.	.	.	.	.	T	0.25754	0.0627	L	0.49126	1.545	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28554	-1.0040	9	0.19590	T	0.45	.	4.1987	0.10455	0.0:0.356:0.4746:0.1694	.	16	P59538	T2R31_HUMAN	V	16	ENSP00000375093:L16V	ENSP00000375093:L16V	L	-	1	2	TAS2R31	11075156	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.058000	0.14301	-0.086000	0.12550	-1.142000	0.01873	CTA	TAS2R31	-	pfam_TAS2_rcpt	ENSG00000256436		0.373	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	HGNC	protein_coding	OTTHUMT00000400233.1	-	0	41	0	G	NM_176885		11183889	-1	tier1	-	no_errors	ENST00000390675	ensembl	human	known	74_37	missense	32.22	60	29	SNP	0.000	C	C	11183889	G	C	11183889	3	2	112	1	0	0	0	0	1	0	0	0	15621	933	33	5	887	5	TAS2R31	12	11183889	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		11183889	122668006	126	30414											
RECQL	5965	genome.wustl.edu	37	chr12	21628683	21628683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaattggcatggtaagcaCctgcatgaattcccagattc	12	10	8	11	0	0	2	0	1	0	1	2	2	1	2	3	2	2	4	3	2	3	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr12:21628683C>A	ENST00000444129.2	-	9	1493	c.1025G>T	c.(1024-1026)gGt>gTt	p.G342V	RECQL_ENST00000421138.2_Missense_Mutation_p.G342V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	342	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						ATGGTAAGCACCTGCATGAAT	0.383								Other identified genes with known or suspected DNA repair function																																									0													104	93	97					12																	21628683		2203	4300	6503	SO:0001583	missense	0			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"DNA helicase Q1-like"	600537	"RecQ protein-like (DNA helicase Q1-like)"			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1025G>T	12.37:g.21628683C>A	ENSP00000416739:p.Gly342Val		A8K6G2	Missense_Mutation	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.G342V	ENST00000444129.2	37	c.1025	CCDS31756.1	12	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885237	0.51908	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	T;T	0.74632	-0.86;-0.86	5.37	4.42	0.53409	Helicase, C-terminal (3);	0.427699	0.27782	N	0.017878	T	0.73156	0.3551	N	0.25094	0.71	0.58432	D	0.999999	D	0.53462	0.96	P	0.59889	0.865	T	0.67221	-0.5725	10	0.16896	T	0.51	-14.9441	15.8606	0.79017	0.0:0.8644:0.1356:0.0	.	342	P46063	RECQ1_HUMAN	V	342	ENSP00000416739:G342V;ENSP00000395449:G342V	ENSP00000395449:G342V	G	-	2	0	RECQL	21519950	0.533000	0.26354	0.993000	0.49108	0.794000	0.44872	1.281000	0.33214	2.658000	0.90341	0.591000	0.81541	GGT	RECQL	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	ENSG00000004700		0.383	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	-	0	14	0	C	NM_002907		21628683	-1	tier1	-	no_errors	ENST00000421138	ensembl	human	known	74_37	missense	57.14	6	8	SNP	0.832	A	A	21628683	C	A	21628683	3	1	112	1	0	0	0	0	1	0	0	0	13246	507	18	3	952	3	RECQL	12	21628683	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	10444794	21628683	112223212	127	30415											
CPNE8	144402	genome.wustl.edu	37	chr12	39047698	39047698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagtcatatttgagtctGtaacacatgtgtaggtgggg	10	12	13	6	0	2	1	1	1	1	0	2	1	2	1	0	3	1	3	0	3	3	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr12:39047698G>T	ENST00000331366.5	-	20	1777	c.1681C>A	c.(1681-1683)Cag>Aag	p.Q561K	CPNE8_ENST00000538596.2_Missense_Mutation_p.Q230K|CPNE8_ENST00000360449.3_Missense_Mutation_p.Q549K|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	561						extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ATTTGAGTCTGTAACACATGT	0.473																																																	0													87	81	83					12																	39047698		2203	4300	6503	SO:0001583	missense	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1681C>A	12.37:g.39047698G>T	ENSP00000329748:p.Gln561Lys		Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.Q561K	ENST00000331366.5	37	c.1681	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122498	0.37436	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.23754	1.89;2.01;1.89	4.14	4.14	0.48551	.	0.000000	0.64402	D	0.000001	T	0.15435	0.0372	N	0.08118	0	0.52501	D	0.999954	B	0.26002	0.139	B	0.22152	0.038	T	0.11567	-1.0582	10	0.72032	D	0.01	-3.9177	16.0695	0.80914	0.0:0.0:1.0:0.0	.	561	Q86YQ8	CPNE8_HUMAN	K	561;230;549	ENSP00000329748:Q561K;ENSP00000439237:Q230K;ENSP00000353633:Q549K	ENSP00000329748:Q561K	Q	-	1	0	CPNE8	37333965	1.000000	0.71417	0.995000	0.50966	0.865000	0.49528	8.149000	0.89632	2.230000	0.72887	0.655000	0.94253	CAG	CPNE8	-	NULL	ENSG00000139117		0.473	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0	69	0	G	NM_153634		39047698	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T	T	39047698	G	T	39047698	3	4	112	1	0	0	0	0	1	0	0	0	3825	1386	48	3	17	3	CPNE8	12	39047698	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	17419015	39047698	94804197	128	30416											
KRT8	3856	genome.wustl.edu	37	chr12	53292281	53292281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttcgtatgaatactcaTgttctgcatcccagactcca	9	13	7	12	1	3	2	1	1	2	1	6	2	5	2	2	1	2	3	2	1	3	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr12:53292281T>A	ENST00000552551.1	-	8	1657	c.1225A>T	c.(1225-1227)Atg>Ttg	p.M409L	KRT8_ENST00000293308.6_Missense_Mutation_p.M409L|KRT8_ENST00000546897.1_Missense_Mutation_p.M409L|KRT8_ENST00000552150.1_Missense_Mutation_p.M437L			P05787	K2C8_HUMAN	keratin 8	409	Tail.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	TGAATACTCATGTTCTGCATC	0.612																																																	0													35	34	34					12																	53292281		2203	4300	6503	SO:0001583	missense	0			BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"-", "Intermediate filaments type II, keratins (basic)"	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1225A>T	12.37:g.53292281T>A	ENSP00000447566:p.Met409Leu		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.M409L	ENST00000552551.1	37	c.1225	CCDS8841.1	12	.	.	.	.	.	.	.	.	.	.	T	12.76	2.033323	0.35893	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	T;T;T;T	0.80653	-1.32;-1.32;-1.32;-1.4	4.32	-1.62	0.08372	.	0.475713	0.24145	N	0.041122	T	0.67325	0.2881	L	0.49256	1.55	0.30033	N	0.813272	B;B	0.14438	0.01;0.001	B;B	0.19148	0.024;0.005	T	0.55952	-0.8059	10	0.56958	D	0.05	.	1.4489	0.02370	0.2715:0.082:0.2794:0.3671	.	437;409	F8VXB4;P05787	.;K2C8_HUMAN	L	409;409;409;437	ENSP00000447566:M409L;ENSP00000293308:M409L;ENSP00000447402:M409L;ENSP00000449404:M437L	ENSP00000293308:M409L	M	-	1	0	KRT8	51578548	0.023000	0.18921	0.995000	0.50966	0.939000	0.58152	-0.601000	0.05687	-0.377000	0.07930	0.459000	0.35465	ATG	KRT8	-	NULL	ENSG00000170421		0.612	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT8	HGNC	protein_coding	OTTHUMT00000406385.1	-	0	89	0	T	NM_002273		53292281	-1	tier1	-	no_errors	ENST00000293308	ensembl	human	known	74_37	missense	13.68	82	13	SNP	0.979	A	A	53292281	T	A	53292281	3	1	112	1	0	0	0	0	1	0	0	0	8520	1464	51	5	234	5	KRT8	12	53292281	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	14244583	53292281	80559614	129	30417											
CLLU1	574028	genome.wustl.edu	37	chr12	92818799	92818799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaaaattttaaatttCaactgttgcgcgtgtgttgg	10	16	9	6	2	1	0	1	0	0	0	2	0	2	0	1	1	2	2	1	1	5	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr12:92818799C>A	ENST00000378485.1	+	1	1065	c.343C>A	c.(343-345)Caa>Aaa	p.Q115K	CLLU1OS_ENST00000378487.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Intron	NM_001025233.1	NP_001020404.1	Q5K131	CLLU1_HUMAN	chronic lymphocytic leukemia up-regulated 1	115						cytoplasm (GO:0005737)				NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TTTTAAATTTCAACTGTTGCG	0.323																																																	0													37	37	37					12																	92818799		1819	4057	5876	SO:0001583	missense	0			AJ845162		12q22	2012-04-19			ENSG00000257127	ENSG00000257127			29841	protein-coding gene	gene with protein product						19726446	Standard	NR_027932		Approved		uc001tcg.1	Q5K131	OTTHUMG00000170103	ENST00000378485.1:c.343C>A	12.37:g.92818799C>A	ENSP00000367746:p.Gln115Lys			Missense_Mutation	SNP	NULL	p.Q115K	ENST00000378485.1	37	c.343		12	.	.	.	.	.	.	.	.	.	.	C	7.413	0.635198	0.14322	.	.	ENSG00000257127	ENST00000378485	T	0.50548	0.74	3.5	0.702	0.18110	.	.	.	.	.	T	0.27027	0.0662	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.24835	-1.0149	7	0.87932	D	0	.	5.6135	0.17418	0.0:0.6404:0.0:0.3596	.	.	.	.	K	115	ENSP00000367746:Q115K	ENSP00000367746:Q115K	Q	+	1	0	AC063949.1	91342930	0.099000	0.21834	0.008000	0.14137	0.212000	0.24457	-0.269000	0.08596	0.142000	0.18901	0.643000	0.83706	CAA	CLLU1	-	NULL	ENSG00000257127		0.323	CLLU1-003	KNOWN	NMD_exception|basic|appris_principal	protein_coding	CLLU1	HGNC	protein_coding	OTTHUMT00000366643.1	-	0	42	0	C	NM_001025233		92818799	1	tier1	-	no_errors	ENST00000378485	ensembl	human	known	74_37	missense	14.29	42	7	SNP	0.014	A	A	92818799	C	A	92818799	3	1	112	1	0	0	0	0	1	0	0	0	3547	827	29	3	345	3	CLLU1	12	92818799	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	39526518	92818799	41033096	130	30418											
OAS2	4939	genome.wustl.edu	37	chr12	113440810	113440810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctccagcccaacaaatGcttcctagagcagattgaca	12	10	7	12	0	1	3	0	1	1	2	3	3	2	3	3	0	4	3	3	0	3	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr12:113440810G>C	ENST00000342315.4	+	6	1296	c.1082G>C	c.(1081-1083)tGc>tCc	p.C361S	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.C361S	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	361	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.C361Y(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCCAACAAATGCTTCCTAGAG	0.498																																					Pancreas(199;709 2232 18410 33584 35052)												1	Substitution - Missense(1)	endometrium(1)											306	290	296					12																	113440810		2203	4300	6503	SO:0001583	missense	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"2'-5'-oligoadenylate synthetase 2 (69-71 kD)"			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1082G>C	12.37:g.113440810G>C	ENSP00000342278:p.Cys361Ser		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.C361S	ENST00000342315.4	37	c.1082	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.605640	0.00000	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.06528	3.29;3.29	3.8	-7.59	0.01308	2-5-oligoadenylate synthetase, N-terminal (1);	15.362500	0.00166	N	0.000002	T	0.02533	0.0077	N	0.03050	-0.425	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42749	-0.9433	10	0.21540	T	0.41	15.5161	3.7276	0.08481	0.0958:0.3149:0.1347:0.4546	.	361;361	P29728;P29728-2	OAS2_HUMAN;.	S	361	ENSP00000342278:C361S;ENSP00000376362:C361S	ENSP00000342278:C361S	C	+	2	0	OAS2	111925193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.200000	0.01237	-7.732000	0.00000	-5.592000	0.00000	TGC	OAS2	-	pfscan_2-5-oligoadenylate_synth_N	ENSG00000111335		0.498	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	-	0	60	0	G			113440810	1	tier1	-	no_errors	ENST00000342315	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.001	C	C	113440810	G	C	113440810	3	2	112	1	0	0	0	0	1	0	0	0	10839	1319	46	5	1175	5	OAS2	12	113440810	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	20622011	113440810	20411085	131	30419											
ZCCHC8	55596	genome.wustl.edu	37	chr12	122958783	122958783	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaatggtggttgaaactgaAaactttcgctgctctgagaa	12	12	11	6	1	1	3	0	3	1	1	2	4	1	3	0	2	3	4	0	2	5	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr12:122958783A>C	ENST00000336229.4	-	14	1515	c.1385T>G	c.(1384-1386)tTt>tGt	p.F462C	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.F73C|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.F224C|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.F224C	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	462					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGAAACTGAAAACTTTCGCT	0.478																																																	0													63	67	66					12																	122958783		2027	4194	6221	SO:0001583	missense	0			BC017704		12q24.31	2014-04-14				ENSG00000033030		"Zinc fingers, CCHC domain containing"	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1385T>G	12.37:g.122958783A>C	ENSP00000337313:p.Phe462Cys		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC	p.F462C	ENST00000336229.4	37	c.1385		12	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327771	0.41197	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116;ENST00000542892	T;T;T;T	0.58797	0.7;0.7;0.7;0.31	5.96	3.61	0.41365	.	0.144170	0.64402	D	0.000005	T	0.62258	0.2413	M	0.66939	2.045	0.47094	D	0.999318	D	0.69078	0.997	P	0.55667	0.781	T	0.59107	-0.7516	10	0.39692	T	0.17	-5.715	5.5006	0.16827	0.7363:0.0:0.1361:0.1275	.	462	Q6NZY4	ZCHC8_HUMAN	C	224;224;462;73;73	ENSP00000441423:F224C;ENSP00000438993:F224C;ENSP00000337313:F462C;ENSP00000440028:F73C	ENSP00000337313:F462C	F	-	2	0	ZCCHC8	121524736	1.000000	0.71417	0.008000	0.14137	0.196000	0.23810	3.215000	0.51169	0.509000	0.28195	0.528000	0.53228	TTT	ZCCHC8	-	NULL	ENSG00000033030		0.478	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	ZCCHC8	HGNC	protein_coding			0	15	0	A	NM_017612		122958783	-1			no_errors	ENST00000336229	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.990	C	C	122958783	A	C	122958783	3	2	112	1	0	0	0	0	1	0	0	0	17642	14	1	4	742	4	ZCCHC8	12	122958783	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	9517973	122958783	10893112	132	30420											
BRCA2	675	genome.wustl.edu	37	chr13	32954213	32954213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acttcagcaaatttttagatCcagactttcagccatcttgt	11	15	5	10	0	3	2	2	0	1	2	4	2	4	2	2	0	2	1	2	0	2	6	rs80359176		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr13:32954213C>T	ENST00000380152.3	+	24	9420	c.9187C>T	c.(9187-9189)Cca>Tca	p.P3063S	BRCA2_ENST00000544455.1_Missense_Mutation_p.P3063S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3063			P -> S (in a patient with ovarian cancer; unknown pathological significance). {ECO:0000269|PubMed:14746861}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATTTTTAGATCCAGACTTTCA	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"L, E"	0													61	62	62					13																	32954213		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"Fanconi anemia, complementation groups"	1101	protein-coding gene	gene with protein product	"BRCA1/BRCA2-containing complex, subunit 2"	600185	"Fanconi anemia, complementation group D1"	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9187C>T	13.37:g.32954213C>T	ENSP00000369497:p.Pro3063Ser		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.P3063S	ENST00000380152.3	37	c.9187	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304506	0.81136	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80653	-1.4;-1.4	5.5	4.66	0.58398	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 3 (1);	0.052385	0.85682	N	0.000000	T	0.71048	0.3294	L	0.41573	1.285	0.50813	D	0.999896	P	0.41673	0.759	B	0.36504	0.226	T	0.72743	-0.4201	10	0.52906	T	0.07	.	10.9538	0.47345	0.0:0.7996:0.13:0.0705	.	3063	P51587	BRCA2_HUMAN	S	3063	ENSP00000369497:P3063S;ENSP00000439902:P3063S	ENSP00000369497:P3063S	P	+	1	0	BRCA2	31852213	0.958000	0.32768	0.953000	0.39169	0.996000	0.88848	1.724000	0.38064	1.462000	0.47948	0.650000	0.86243	CCA	BRCA2	-	pfam_BRCA2_OB_3,superfamily_NA-bd_OB-fold,pirsf_BRCA2	ENSG00000139618		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0	93	0	C	NM_000059		32954213	1	tier1	rs80359176	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	21.67	47	13	SNP	0.998	T	T	32954213	C	T	32954213	3	4	112	1	0	0	0	0	1	0	0	0	1503	855	30	3	9277	3	BRCA2	13	32954213	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		32954213	82215665	133	30421											
OR4K14	122740	genome.wustl.edu	37	chr14	20482510	20482510	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagataatggggttcaggagTggagtaaaaatggtataaaa	17	10	13	1	0	1	1	1	0	0	1	1	3	1	3	0	5	0	3	0	5	8	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr14:20482510T>C	ENST00000305045.2	-	1	842	c.843A>G	c.(841-843)ccA>ccG	p.P281P		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGTTCAGGAGTGGAGTAAAAA	0.433																																																	0													98	92	94					14																	20482510		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"GPCR / Class A : Olfactory receptors"	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.843A>G	14.37:g.20482510T>C			Q6IEU1|Q96R71	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P281	ENST00000305045.2	37	c.843	CCDS32027.1	14																																																																																			OR4K14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000169484		0.433	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	-	0	30	0	T			20482510	-1	tier1	-	no_errors	ENST00000305045	ensembl	human	known	74_37	silent	30.00	13	6	SNP	0.001	C	C	20482510	T	C	20482510	2	2	112	1	0	0	0	0	0	0	0	1	11108	1683	59	4		4	OR4K14	14	20482510	Silent	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09		20482510	86867030	134	30422											
FANCM	57697	genome.wustl.edu	37	chr14	45644391	45644391	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagtgacacctttatcactCacaagaaatcgtcatttata	14	12	4	11	1	3	2	3	1	0	1	4	2	3	2	2	0	0	0	2	0	5	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr14:45644391C>G	ENST00000267430.5	+	14	2519	c.2434C>G	c.(2434-2436)Cac>Gac	p.H812D	FANCM_ENST00000542564.2_Missense_Mutation_p.H786D	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	812					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CTTTATCACTCACAAGAAATC	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													86	83	84					14																	45644391		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2434C>G	14.37:g.45644391C>G	ENSP00000267430:p.His812Asp		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H812D	ENST00000267430.5	37	c.2434	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.789002	0.00623	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.18960	2.79;2.79;2.18	5.08	0.366	0.16136	.	0.964586	0.08590	N	0.923147	T	0.09949	0.0244	N	0.14661	0.345	0.09310	N	1	B;B	0.17667	0.011;0.023	B;B	0.14023	0.01;0.01	T	0.40175	-0.9577	10	0.13470	T	0.59	.	4.7931	0.13259	0.1942:0.5917:0.1092:0.1049	.	786;812	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	D	812;786;328	ENSP00000267430:H812D;ENSP00000442493:H786D;ENSP00000452033:H328D	ENSP00000267430:H812D	H	+	1	0	FANCM	44714141	0.000000	0.05858	0.006000	0.13384	0.135000	0.20990	0.115000	0.15540	0.466000	0.27193	0.585000	0.79938	CAC	FANCM	-	NULL	ENSG00000187790		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1		0	32	0	C	XM_048128		45644391	1			no_errors	ENST00000267430	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.041	G	G	45644391	C	G	45644391	3	3	112	1	0	0	0	0	1	0	0	0	5693	826	29	5	2488	5	FANCM	14	45644391	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	25161881	45644391	61705149	135	30423											
KLHDC2	23588	genome.wustl.edu	37	chr14	50249303	50249303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttcagttcaaccaaaatCtcttgtacggtaagtaactt	13	15	5	8	1	3	0	2	0	1	0	4	0	3	0	1	1	3	4	1	1	6	8			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr14:50249303C>T	ENST00000298307.5	+	12	1949	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F	KLHDC2_ENST00000554589.1_Intron|KLHDC2_ENST00000557247.1_Intron|NEMF_ENST00000556925.1_5'Flank	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	363						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					CAACCAAAATCTCTTGTACGG	0.299																																																	0													56	55	55					14																	50249303		2203	4300	6503	SO:0001583	missense	0			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.1088C>T	14.37:g.50249303C>T	ENSP00000298307:p.Ser363Phe		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	pfam_Kelch_2	p.S363F	ENST00000298307.5	37	c.1088	CCDS9693.1	14	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705052	0.88924	.	.	ENSG00000165516	ENST00000298307	T	0.04654	3.58	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.22205	0.0535	M	0.69823	2.125	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.00019	-1.2360	10	0.72032	D	0.01	-22.8696	18.4873	0.90834	0.0:1.0:0.0:0.0	.	363	Q9Y2U9	KLDC2_HUMAN	F	363	ENSP00000298307:S363F	ENSP00000298307:S363F	S	+	2	0	KLHDC2	49319053	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.293000	0.65680	2.847000	0.97988	0.655000	0.94253	TCT	KLHDC2	-	NULL	ENSG00000165516		0.299	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC2	HGNC	protein_coding	OTTHUMT00000276869.1	-	0	36	0	C			50249303	1	tier1	-	no_errors	ENST00000298307	ensembl	human	known	74_37	missense	12.50	28	4	SNP	1.000	T	T	50249303	C	T	50249303	3	4	112	1	0	0	0	0	1	0	0	0	8383	913	32	3	1134	3	KLHDC2	14	50249303	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4604912	50249303	57100237	136	30424											
MAP3K9	4293	genome.wustl.edu	37	chr14	71209128	71209128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctcttcctgaacttgcCcttgcgtttcttcacccggg	3	13	9	16	3	3	1	1	1	2	0	4	1	4	1	4	2	3	2	4	2	1	5	rs111385383	byFrequency	TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr14:71209128C>A	ENST00000554752.2	-	6	1506	c.1507G>T	c.(1507-1509)Ggc>Tgc	p.G503C	MAP3K9_ENST00000554146.1_Missense_Mutation_p.G240C|MAP3K9_ENST00000555993.2_Missense_Mutation_p.G503C|MAP3K9_ENST00000381250.4_Missense_Mutation_p.G503C|MAP3K9_ENST00000553414.1_Missense_Mutation_p.G197C	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	503	Arg/Lys-rich (basic).				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGAACTTGCCCTTGCGTTTC	0.617																																					GBM(114;411 1587 13539 28235 50070)												0													97	85	89					14																	71209128		2203	4300	6503	SO:0001583	missense	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"Mitogen-activated protein kinase cascade / Kinase kinase kinases"	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1507G>T	14.37:g.71209128C>A	ENSP00000451612:p.Gly503Cys		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.G503C	ENST00000554752.2	37	c.1507		14	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940747	0.92526	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.11891	-1.0569	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	240;503;503;197	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	C	503;503;197;503;240;231	ENSP00000451612:G503C;ENSP00000451038:G197C;ENSP00000370649:G503C;ENSP00000451921:G240C	ENSP00000005198:G503C	G	-	1	0	MAP3K9	70278881	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	7.760000	0.85248	2.882000	0.98803	0.655000	0.94253	GGC	MAP3K9	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom	ENSG00000006432		0.617	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	-	0	53	0	C			71209128	-1	tier1	-	no_errors	ENST00000555993	ensembl	human	known	74_37	missense	25.00	48	16	SNP	1.000	A	A	71209128	C	A	71209128	3	1	112	1	0	0	0	0	1	0	0	0	9295	623	22	3	1881	3	MAP3K9	14	71209128	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	20959825	71209128	36140412	137	30425											
EML5	161436	genome.wustl.edu	37	chr14	89124637	89124637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaagacatatctgtaccGcctagggtaaccaacatgct	14	10	7	10	1	1	1	0	0	1	1	1	1	1	1	3	1	4	3	3	1	7	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr14:89124637G>A	ENST00000380664.5	-	26	3770	c.3771C>T	c.(3769-3771)ggC>ggT	p.G1257G	EML5_ENST00000352093.5_Silent_p.G1219G|EML5_ENST00000554922.1_Silent_p.G1257G			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1257						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATCTGTACCGCCTAGGGTAA	0.413																																																	0													142	130	134					14																	89124637		1899	4118	6017	SO:0001819	synonymous_variant	0			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"WD repeat domain containing"	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3771C>T	14.37:g.89124637G>A			B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1257	ENST00000380664.5	37	c.3771	CCDS45148.1	14																																																																																			EML5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat	ENSG00000165521		0.413	EML5-010	KNOWN	basic|CCDS	protein_coding	EML5	HGNC	protein_coding	OTTHUMT00000410491.1	-	0	49	0	G			89124637	-1	tier1	-	no_errors	ENST00000554922	ensembl	human	known	74_37	silent	15.00	51	9	SNP	1.000	A	A	89124637	G	A	89124637	2	1	112	1	0	0	0	0	0	0	0	1	5116	1074	38	1		1	EML5	14	89124637	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	17915509	89124637	18224903	138	30426											
AHNAK2	113146	genome.wustl.edu	37	chr14	105404775	105404775	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgaatgggagcagaTctctggacgtcatttttgga	8	15	13	5	1	2	2	1	1	1	1	3	5	2	5	0	3	1	2	0	3	1	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr14:105404775T>C	ENST00000333244.5	-	7	17132	c.17013A>G	c.(17011-17013)agA>agG	p.R5671R	AHNAK2_ENST00000557457.1_Silent_p.R669R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5671						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGGAGCAGATCTCTGGACGT	0.458																																																	0													62	56	58					14																	105404775		1907	4126	6033	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"chromosome 14 open reading frame 78"	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.17013A>G	14.37:g.105404775T>C			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R5671	ENST00000333244.5	37	c.17013	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.458	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	-	0	93	0	T	NM_138420		105404775	-1	tier1	-	no_errors	ENST00000333244	ensembl	human	known	74_37	silent	20.88	72	19	SNP	0.000	C	C	105404775	T	C	105404775	2	2	112	1	0	0	0	0	0	0	0	1	415	1432	50	4		4	AHNAK2	14	105404775	Silent	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	16280138	105404775	1944765	139	30427											
WDR76	79968	genome.wustl.edu	37	chr15	44158510	44158510	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgttccatcaatgccAtgcacccaactcggtatatt	9	13	7	12	1	1	0	1	0	0	0	3	0	2	0	3	1	3	3	3	1	4	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr15:44158510A>C	ENST00000263795.6	+	13	1871	c.1801A>C	c.(1801-1803)Atg>Ctg	p.M601L	Y_RNA_ENST00000363521.1_RNA|WDR76_ENST00000381246.2_Missense_Mutation_p.M537L|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	601										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CATCAATGCCATGCACCCAAC	0.448																																																	0													181	151	161					15																	44158510		2198	4298	6496	SO:0001583	missense	0			AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"WD repeat domain containing"	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1801A>C	15.37:g.44158510A>C	ENSP00000263795:p.Met601Leu		A0MNP5|Q05CI4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.M601L	ENST00000263795.6	37	c.1801	CCDS10106.1	15	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811342	0.32053	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.63580	-0.05;-0.05	6.17	2.34	0.29019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.248257	0.49916	D	0.000122	T	0.40694	0.1127	L	0.31664	0.95	0.23704	N	0.997066	B	0.02656	0.0	B	0.04013	0.001	T	0.11842	-1.0571	10	0.26408	T	0.33	-19.1737	2.2021	0.03926	0.5636:0.1199:0.2009:0.1156	.	601	Q9H967	WDR76_HUMAN	L	601;537	ENSP00000263795:M601L;ENSP00000370645:M537L	ENSP00000263795:M601L	M	+	1	0	WDR76	41945802	0.381000	0.25140	0.998000	0.56505	0.951000	0.60555	0.868000	0.27982	0.525000	0.28522	-0.290000	0.09829	ATG	WDR76	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000092470		0.448	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR76	HGNC	protein_coding	OTTHUMT00000133482.2	-	0	167	0	A	NM_024908		44158510	1	tier1	-	no_errors	ENST00000263795	ensembl	human	known	74_37	missense	18.71	126	29	SNP	0.522	C	C	44158510	A	C	44158510	3	2	112	1	0	0	0	0	1	0	0	0	17375	217	8	4	1851	4	WDR76	15	44158510	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09		44158510	58372882	140	30428											
EIF3J	8669	genome.wustl.edu	37	chr15	44846786	44846786	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctaaagtgctaacaccAgaagaacaattagcagataa	20	6	7	8	0	0	3	0	0	0	3	0	4	0	3	2	0	5	2	2	0	9	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr15:44846786A>G	ENST00000535391.1	+	5	342	c.330A>G	c.(328-330)ccA>ccG	p.P110P	EIF3J_ENST00000424492.3_Silent_p.P61P|EIF3J_ENST00000261868.5_Silent_p.P110P					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		TGCTAACACCAGAAGAACAAT	0.373																																																	0													104	101	102					15																	44846786		2198	4298	6496	SO:0001819	synonymous_variant	0			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	ENST00000535391.1:c.330A>G	15.37:g.44846786A>G				Silent	SNP	pfam_eIF3j	p.P110	ENST00000535391.1	37	c.330		15																																																																																			EIF3J	-	pfam_eIF3j	ENSG00000104131		0.373	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	EIF3J	HGNC	protein_coding	OTTHUMT00000396804.1	-	0	58	0	A	NM_003758		44846786	1	tier1	-	no_errors	ENST00000261868	ensembl	human	known	74_37	silent	22.41	45	13	SNP	0.998	G	G	44846786	A	G	44846786	2	3	112	1	0	0	0	0	0	0	0	1	5036	175	7	4		4	EIF3J	15	44846786	Silent	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	688276	44846786	57684606	141	30429											
SPG11	80208	genome.wustl.edu	37	chr15	44905697	44905698	+	Frame_Shift_Ins	INS	-	-	T																															gggtgtgcttcatgtaactcINSttttttttccaaaaagggac																								rs374397452|rs312262752		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr15:44905697_44905698insT	ENST00000261866.7	-	17	3091_3092	c.3075_3076insA	c.(3073-3078)aaagagfs	p.E1026fs	SPG11_ENST00000558319.1_Frame_Shift_Ins_p.E1026fs|SPG11_ENST00000427534.2_Frame_Shift_Ins_p.E1026fs|SPG11_ENST00000535302.2_Frame_Shift_Ins_p.E1026fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1026					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCATGTAACTCTTTTTTTTCCA	0.327																																																	0			GRCh37	CI077004	SPG11	I																																				SO:0001589	frameshift_variant	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.3076dupA	15.37:g.44905705_44905705dupT	ENSP00000261866:p.Glu1026fs		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Frame_Shift_Ins	INS	NULL	p.E1025fs	ENST00000261866.7	37	c.3076_3075	CCDS10112.1	15																																																																																			SPG11	-	NULL	ENSG00000104133		0.327	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1		0	29	0	-			44905698	-1	tier1		no_errors	ENST00000261866	ensembl	human	known	74_37	frame_shift_ins	5.88	32	2	INS	1.000:1.000	T	T	44905698	-	T	44905697	7	5	112	1	0	1	1	0	0	0	0	0	15088	922	32	0	4351	0	SPG11	15	44905697	Frame_Shift_Ins	INS	-	TCGA-LN-A4A2-01A-31D-A27G-09	58911	44905697	57625695	142	30430											
SLC30A4	7782	genome.wustl.edu	37	chr15	45814394	45814394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccggggcttcggaaccGtcatcggccaccacaactcg	7	8	10	16	5	1	0	1	0	0	0	5	1	2	1	4	4	2	1	4	4	2	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr15:45814394G>A	ENST00000261867.4	-	2	473	c.159C>T	c.(157-159)gaC>gaT	p.D53D	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	53	Asp-rich (acidic).				regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		CTTCGGAACCGTCATCGGCCA	0.567																																																	0													70	76	74					15																	45814394		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"Solute carriers"	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.159C>T	15.37:g.45814394G>A			Q8TC39	Silent	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.D53	ENST00000261867.4	37	c.159	CCDS10125.1	15																																																																																			SLC30A4	-	NULL	ENSG00000104154		0.567	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A4	HGNC	protein_coding	OTTHUMT00000254236.1	-	0	52	0	G			45814394	-1	tier1	-	no_errors	ENST00000261867	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.299	A	A	45814394	G	A	45814394	2	1	112	1	0	0	0	0	0	0	0	1	14602	1136	40	1		1	SLC30A4	15	45814394	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	908697	45814394	56716998	143	30431											
USP8	9101	genome.wustl.edu	37	chr15	50785054	50785054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattgcagtgcctatgtaaCgctccacatttggctgatta	10	14	8	9	1	0	1	0	1	0	0	1	1	1	1	2	1	3	4	2	1	4	6	rs199814360		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr15:50785054C>T	ENST00000396444.3	+	15	2729	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	USP8_ENST00000307179.4_Silent_p.N797N|USP8_ENST00000425032.3_Silent_p.N691N|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000433963.1_Silent_p.N797N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	797	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCCTATGTAACGCTCCACATT	0.363																																																	0													105	96	99					15																	50785054		2196	4293	6489	SO:0001819	synonymous_variant	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"Ubiquitin-specific peptidases"	12631	protein-coding gene	gene with protein product		603158	"ubiquitin specific protease 8"			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2391C>T	15.37:g.50785054C>T			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67	p.N797	ENST00000396444.3	37	c.2391	CCDS10137.1	15																																																																																			USP8	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000138592		0.363	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	-	0	38	0	C	NM_005154		50785054	1	tier1	rs199814360	no_errors	ENST00000307179	ensembl	human	known	74_37	silent	10.26	35	4	SNP	1.000	T	T	50785054	C	T	50785054	2	4	112	1	0	0	0	0	0	0	0	1	17138	535	19	1		1	USP8	15	50785054	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4970660	50785054	51746338	144	30432											
UACA	55075	genome.wustl.edu	37	chr15	70964305	70964305	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatacttttatacttacgGttactgaaatgacttcctga	11	16	5	9	1	0	3	0	3	0	0	2	3	2	3	2	1	4	1	2	1	6	7			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr15:70964305G>T	ENST00000322954.6	-	14	1352	c.1167C>A	c.(1165-1167)aaC>aaA	p.N389K	UACA_ENST00000560441.1_Intron|UACA_ENST00000379983.2_Splice_Site_p.N376K|UACA_ENST00000539319.1_Splice_Site_p.N280K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	389					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TATACTTACGGTTACTGAAAT	0.303																																																	0													78	72	74					15																	70964305		2199	4291	6490	SO:0001630	splice_region_variant	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"Ankyrin repeat domain containing"	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1168+1C>A	15.37:g.70964305G>T			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.N389K	ENST00000322954.6	37	c.1167	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704771	0.30232	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.32023	1.47;1.49;1.93	4.48	2.58	0.30949	.	0.085303	0.49916	D	0.000138	T	0.22551	0.0544	L	0.45581	1.43	0.38329	D	0.943749	B;B;B;B	0.19935	0.04;0.024;0.01;0.008	B;B;B;B	0.22386	0.039;0.011;0.011;0.008	T	0.07290	-1.0780	10	0.13470	T	0.59	-2.7535	8.2789	0.31889	0.1987:0.0:0.8013:0.0	.	280;389;389;376	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	K	389;376;365;280	ENSP00000314556:N389K;ENSP00000369319:N376K;ENSP00000438667:N280K	ENSP00000314556:N389K	N	-	3	2	UACA	68751359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.537000	0.23144	1.218000	0.43458	0.591000	0.81541	AAC	UACA	-	NULL	ENSG00000137831		0.303	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	-	0	27	0	G		Missense_Mutation	70964305	-1	tier1	-	no_errors	ENST00000322954	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T	T	70964305	G	T	70964305	5	4	112	1	0	0	0	0	0	0	1	0	16873	1275	44	3	3107	3	UACA	15	70964305	Splice_Site	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	20179251	70964305	31567087	145	30433											
SIN3A	25942	genome.wustl.edu	37	chr15	75692462	75692462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaaggtagagtcctcagaCcacgaagggaaggaaaccca	17	3	11	10	1	1	2	1	0	0	2	2	5	2	4	3	3	1	1	3	3	5	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr15:75692462C>A	ENST00000394947.3	-	12	2087	c.1773G>T	c.(1771-1773)tgG>tgT	p.W591C	SIN3A_ENST00000360439.4_Missense_Mutation_p.W591C|SIN3A_ENST00000394949.4_Missense_Mutation_p.W591C	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGTCCTCAGACCACGAAGGGA	0.393																																																	0													101	95	97					15																	75692462		2197	4294	6491	SO:0001583	missense	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"SIN3 homolog A, transcription regulator (yeast)", "SIN3 transcription regulator homolog A (yeast)"			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1773G>T	15.37:g.75692462C>A	ENSP00000378402:p.Trp591Cys			Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.W591C	ENST00000394947.3	37	c.1773	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730322	0.89390	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.54675	0.56;0.56;0.56	6.08	6.08	0.98989	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84604	0.0674	10	0.72032	D	0.01	-9.6549	19.6603	0.95864	0.0:1.0:0.0:0.0	.	591	Q96ST3	SIN3A_HUMAN	C	591	ENSP00000378402:W591C;ENSP00000378403:W591C;ENSP00000353622:W591C	ENSP00000353622:W591C	W	-	3	0	SIN3A	73479515	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.817000	0.86213	2.894000	0.99253	0.591000	0.81541	TGG	SIN3A	-	pfam_HDAC_interact,smart_HDAC_interact	ENSG00000169375		0.393	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	-	0	20	0	C	NM_015477		75692462	-1	tier1	-	no_errors	ENST00000360439	ensembl	human	known	74_37	missense	21.21	26	7	SNP	1.000	A	A	75692462	C	A	75692462	3	1	112	1	0	0	0	0	1	0	0	0	14370	508	18	3	2088	3	SIN3A	15	75692462	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4728157	75692462	26838930	146	30434											
POLR3K	51728	genome.wustl.edu	37	chr16	97516	97516	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagagcgggtctgaagctGcatgaagtaagcacgaggat	12	7	15	7	2	1	3	0	2	1	1	1	5	1	4	0	2	5	5	0	2	3	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr16:97516G>A	ENST00000293860.5	-	3	282	c.241C>T	c.(241-243)Cag>Tag	p.Q81*		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	81					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GTCTGAAGCTGCATGAAGTAA	0.507																																																	0													94	80	85					16																	97516		2203	4300	6503	SO:0001587	stop_gained	0			AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"RNA polymerase subunits"	14121	protein-coding gene	gene with protein product		606007	"polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.241C>T	16.37:g.97516G>A	ENSP00000293860:p.Gln81*		Q1W6H4|Q96S35	Nonsense_Mutation	SNP	pfam_Znf_TFIIS,pfam_DNA-dir_RNA_pol_M/15kDasu,smart_DNA-dir_RNA_pol_M/15kDasu,smart_Znf_TFIIS,pfscan_Znf_TFIIS	p.Q81*	ENST00000293860.5	37	c.241	CCDS10395.1	16	.	.	.	.	.	.	.	.	.	.	.	24.0	4.482338	0.84747	.	.	ENSG00000161980	ENST00000293860	.	.	.	4.59	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.8494	11.9106	0.52737	0.0871:0.0:0.9129:0.0	.	.	.	.	X	81	.	ENSP00000293860:Q81X	Q	-	1	0	POLR3K	37516	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.209000	0.89751	1.085000	0.41206	0.449000	0.29647	CAG	POLR3K	-	pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS	ENSG00000161980		0.507	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	POLR3K	HGNC	protein_coding	OTTHUMT00000134192.1	-	0	35	0	G	NM_016310		97516	-1	tier1	-	no_errors	ENST00000293860	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	1.000	A	A	97516	G	A	97516	4	1	112	1	0	0	0	0	0	1	0	0	12276	1328	46	3	89	3	POLR3K	16	97516	Nonsense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09		97516	90257237	147	30435											
HAGH	3029	genome.wustl.edu	37	chr16	1859322	1859322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactggtccttctccctgcGcacggcccgcatggtggtca	5	9	12	15	3	2	0	1	0	1	0	4	1	3	0	3	4	2	2	3	4	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr16:1859322G>A	ENST00000397356.3	-	9	1295	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	HAGH_ENST00000455446.2_3'UTR|HAGH_ENST00000566709.1_3'UTR|HAGH_ENST00000397353.2_Missense_Mutation_p.R249C|HAGH_ENST00000567398.1_5'UTR	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	297	Substrate binding.				glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTCTCCCTGCGCACGGCCCGC	0.652																																					Pancreas(55;1048 1176 25227 40124 41333)												0													125	110	115					16																	1859322		2199	4300	6499	SO:0001583	missense	0			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"hydroxyacyl glutathione hydrolase"			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.889C>T	16.37:g.1859322G>A	ENSP00000380514:p.Arg297Cys		A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase	p.R297C	ENST00000397356.3	37	c.889	CCDS10447.2	16	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011192	0.54361	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.96459	-4.02;-4.02	4.98	4.98	0.66077	.	0.064955	0.64402	D	0.000010	D	0.98280	0.9430	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.64877	0.93	D	0.98548	1.0635	10	0.52906	T	0.07	-12.815	13.2658	0.60133	0.0:0.0:0.8308:0.1692	.	297	Q16775	GLO2_HUMAN	C	297;249	ENSP00000380514:R297C;ENSP00000380511:R249C	ENSP00000380511:R249C	R	-	1	0	HAGH	1799323	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	3.860000	0.55995	2.476000	0.83614	0.555000	0.69702	CGC	HAGH	-	tigrfam_Hydroxyacylglutathione_Hdrlase	ENSG00000063854		0.652	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HAGH	HGNC	protein_coding	OTTHUMT00000250548.2	-	0	52	0	G	NM_005326		1859322	-1	tier1	-	no_errors	ENST00000397356	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A	A	1859322	G	A	1859322	3	1	112	1	0	0	0	0	1	0	0	0	6972	1087	38	1	41	1	HAGH	16	1859322	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1761806	1859322	88495431	148	30436											
SNX29	92017	genome.wustl.edu	37	chr16	12162928	12162928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacagatgcccccctcggaAgcctggagaacgggacagga	11	3	14	13	2	0	2	0	0	0	2	1	6	0	5	4	4	3	1	4	4	2	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr16:12162928A>G	ENST00000566228.1	+	10	1327	c.1258A>G	c.(1258-1260)Agc>Ggc	p.S420G	SNX29_ENST00000323433.4_Missense_Mutation_p.S35G|SNX29_ENST00000306030.3_Missense_Mutation_p.S35G	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	420						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCCCCTCGGAAGCCTGGAGAA	0.493																																																	0													95	104	101					16																	12162928		1912	4120	6032	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"Sorting nexins"	30542	protein-coding gene	gene with protein product			"RUN domain containing 2A"	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1258A>G	16.37:g.12162928A>G	ENSP00000456480:p.Ser420Gly		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S35G	ENST00000566228.1	37	c.103	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	a	15.43	2.830715	0.50845	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	T	0.28466	0.0704	N	0.16478	0.41	0.21675	N	0.999595	B	0.29378	0.243	B	0.27380	0.079	T	0.16335	-1.0406	8	0.38643	T	0.18	-13.224	11.7517	0.51852	1.0:0.0:0.0:0.0	.	420	Q8TEQ0	SNX29_HUMAN	G	35	.	ENSP00000306940:S35G	S	+	1	0	SNX29	12070429	0.997000	0.39634	0.991000	0.47740	0.885000	0.51271	3.791000	0.55469	2.024000	0.59613	0.456000	0.33151	AGC	SNX29	-	NULL	ENSG00000048471		0.493	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	-	0	57	0	A			12162928	1	tier1	-	no_errors	ENST00000306030	ensembl	human	known	74_37	missense	27.78	39	15	SNP	0.962	G	G	12162928	A	G	12162928	3	3	112	1	0	0	0	0	1	0	0	0	14943	72	3	4	109	4	SNX29	16	12162928	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	10303606	12162928	78191825	149	30437											
ERN2	10595	genome.wustl.edu	37	chr16	23706340	23706340	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggaagtgcgggtacCtatgtgtaaagagtgcaggt	10	8	18	5	1	0	1	0	0	0	1	0	2	0	2	1	5	3	4	1	5	5	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr16:23706340C>T	ENST00000457008.2	-	15	1782	c.1744G>A	c.(1744-1746)Gtg>Atg	p.V582M	ERN2_ENST00000256797.4_Splice_Site_p.V682M					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GTGCGGGTACCTATGTGTAAA	0.637																																																	0													82	91	88					16																	23706340		2197	4300	6497	SO:0001630	splice_region_variant	0			AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"ER to nucleus signalling 2"			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1744+1G>A	16.37:g.23706340C>T				Missense_Mutation	SNP	pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom	p.V682M	ENST00000457008.2	37	c.2044		16	.	.	.	.	.	.	.	.	.	.	C	31	5.083054	0.94050	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.55930	0.49;0.49	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68337	-0.5435	9	.	.	.	.	16.9969	0.86370	0.0:1.0:0.0:0.0	.	582;634	E7ETG2;A5YM65	.;.	M	682;582	ENSP00000256797:V682M;ENSP00000413812:V582M	.	V	-	1	0	ERN2	23613841	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.392000	0.79840	2.676000	0.91093	0.655000	0.94253	GTG	ERN2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000134398		0.637	ERN2-002	NOVEL	basic|exp_conf	protein_coding	ERN2	HGNC	protein_coding	OTTHUMT00000434886.1	-	0	73	0	C		Missense_Mutation	23706340	-1	tier1	-	no_errors	ENST00000256797	ensembl	human	known	74_37	missense	26.03	54	19	SNP	1.000	T	T	23706340	C	T	23706340	5	4	112	1	0	0	0	0	0	0	1	0	5254	695	24	3	908	3	ERN2	16	23706340	Splice_Site	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	11543412	23706340	66648413	150	30438											
MAPK3	5595	genome.wustl.edu	37	chr16	30129094	30129094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccagatgtcgatggaCttggtatagccctgggggag	10	8	15	8	1	0	2	0	0	0	2	1	5	0	4	2	4	1	1	2	4	2	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr16:30129094C>T	ENST00000263025.4	-	5	756	c.672G>A	c.(670-672)aaG>aaA	p.K224K	MAPK3_ENST00000395199.3_Silent_p.K224K|MAPK3_ENST00000322266.5_Silent_p.K224K|MAPK3_ENST00000484663.1_Silent_p.K110K|MAPK3_ENST00000395202.1_Silent_p.K224K|MAPK3_ENST00000403394.1_Silent_p.K224K|MAPK3_ENST00000395200.1_Silent_p.K156K|MAPK3_ENST00000494643.1_5'Flank	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)									Arsenic trioxide(DB01169)|Sulindac(DB00605)	TGTCGATGGACTTGGTATAGC	0.582																																																	0													90	88	88					16																	30129094		2197	4300	6497	SO:0001819	synonymous_variant	0			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.672G>A	16.37:g.30129094C>T			A8CZ58|B0LPG3|Q8NHX1	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.K224	ENST00000263025.4	37	c.672	CCDS10672.1	16	.	.	.	.	.	.	.	.	.	.	C	9.780	1.174979	0.21704	.	.	ENSG00000102882	ENST00000495629	.	.	.	5.97	2.65	0.31530	.	.	.	.	.	T	0.55625	0.1932	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49579	-0.8925	4	.	.	.	-8.6552	7.3197	0.26521	0.0:0.591:0.0:0.409	.	.	.	.	N	185	.	.	S	-	2	0	MAPK3	30036595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.032000	0.30178	0.848000	0.35191	0.655000	0.94253	AGT	MAPK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4	ENSG00000102882		0.582	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK3	HGNC	protein_coding	OTTHUMT00000255196.2	-	0	40	0	C			30129094	-1	tier1	-	no_errors	ENST00000263025	ensembl	human	known	74_37	silent	23.53	26	8	SNP	1.000	T	T	30129094	C	T	30129094	2	4	112	1	0	0	0	0	0	0	0	1	9317	564	20	3		3	MAPK3	16	30129094	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	6422754	30129094	60225659	151	30439											
ZNF646	9726	genome.wustl.edu	37	chr16	31091869	31091869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcacagcggccagtgaggcGaacctgactggcagccaggg	9	3	17	12	2	0	2	0	2	0	0	0	3	0	2	3	5	3	2	3	5	1	0	rs369374909		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr16:31091869G>A	ENST00000394979.2	+	1	4647	c.4224G>A	c.(4222-4224)gcG>gcA	p.A1408A	ZNF646_ENST00000300850.5_Silent_p.A1408A			O15015	ZN646_HUMAN	zinc finger protein 646	1408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAGTGAGGCGAACCTGACTG	0.642																																																	0								G		0,4394		0,0,2197	39	39	39		4224	2.7	0	16		39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF646	NM_014699.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1408/1833	31091869	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4224G>A	16.37:g.31091869G>A			Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1408	ENST00000394979.2	37	c.4224		16																																																																																			ZNF646	-	NULL	ENSG00000167395		0.642	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0	102	0	G	NM_014699		31091869	1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	silent	32.22	61	29	SNP	0.001	A	A	31091869	G	A	31091869	2	1	112	1	0	0	0	0	0	0	0	1	18110	1045	37	1		1	ZNF646	16	31091869	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	962775	31091869	59262884	152	30440											
ZFHX3	463	genome.wustl.edu	37	chr16	72828727	72828727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcactggccttttcctcCagcttcctcttgagagtgtt	4	16	8	13	0	1	1	0	1	1	1	4	2	4	1	4	1	2	3	4	1	0	6	rs139779175		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr16:72828727C>T	ENST00000268489.5	-	9	8526	c.7854G>A	c.(7852-7854)ctG>ctA	p.L2618L	ZFHX3_ENST00000397992.5_Silent_p.L1704L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2618					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTTTTCCTCCAGCTTCCTCT	0.547																																																	0								C	,	3,4393	6.2+/-15.9	0,3,2195	221	227	225		5112,7854	5.6	1	16	dbSNP_134	225	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,3,6495	TT,TC,CC		0.0,0.0682,0.0231	,	1704/2790,2618/3704	72828727	3,12993	2198	4300	6498	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7854G>A	16.37:g.72828727C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L2618	ENST00000268489.5	37	c.7854	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0	80	0	C	NM_006885		72828727	-1	tier1	rs139779175	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T	T	72828727	C	T	72828727	2	4	112	1	0	0	0	0	0	0	0	1	17682	581	21	3		3	ZFHX3	16	72828727	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	41736858	72828727	17526026	153	30441											
TP53	7157	genome.wustl.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2	rs587782144		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:7578457C>T	ENST00000269305.4	-	5	662	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H|TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCATGGCGCGGACGCGGGT	0.627		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	GRCh37	CM994513	TP53	M							49	51	50					17																	7578457		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>A	17.37:g.7578457C>T	ENSP00000269305:p.Arg158His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R158H	ENST00000269305.4	37	c.473	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306299	0.40795	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99809	0.9917	M	0.77486	2.375	0.58432	D	0.999999	D;P;D;D;P;P;D	0.89917	0.998;0.631;0.984;0.982;0.831;0.48;1.0	P;B;P;P;P;B;D	0.97110	0.907;0.274;0.76;0.751;0.516;0.242;1.0	D	0.96738	0.9544	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158H;ENSP00000352610:R158H;ENSP00000269305:R158H;ENSP00000398846:R158H;ENSP00000391127:R158H;ENSP00000391478:R158H;ENSP00000425104:R26H;ENSP00000423862:R65H;ENSP00000424104:R158H	ENSP00000269305:R158H	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	483	0	C	NM_000546		7578457	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	21.26	299	81	SNP	0.989	T	T	7578457	C	T	7578457	3	4	112	1	0	0	0	0	1	0	0	0	16429	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		7578457	73616753	154	30442											
TP53	7157	genome.wustl.edu	37	chr17	7578556	7578556	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagggcaggggagtacTgtaggaagaggaaggagaca	13	6	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:7578556T>A	ENST00000269305.4	-	5	565		c.e5-2		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGGGAGTACTGTAGGAAGAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	46	Unknown(34)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	lung(19)|breast(7)|central_nervous_system(4)|ovary(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|oesophagus(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)											41	42	41					17																	7578556		2203	4300	6503	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-2A>T	17.37:g.7578556T>A			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e4-2	ENST00000269305.4	37	c.376-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452205	0.63290	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6026	0.45375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519281	1.000000	0.71417	0.994000	0.49952	0.902000	0.53008	6.214000	0.72200	2.078000	0.62432	0.533000	0.62120	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0	309	0	T	NM_000546	Intron	7578556	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	42.79	130	98	SNP	1.000	A	A	7578556	T	A	7578556	5	1	112	1	0	0	0	0	0	0	1	0	16429	1594	55	5	924	5	TP53	17	7578556	Splice_Site	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	99	7578556	73616654	155	30443											
GLP2R	9340	genome.wustl.edu	37	chr17	9760839	9760839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggacgtcgtcttctacaaCtcttactccaagaggcctga	11	10	8	12	2	3	2	0	1	3	1	5	3	4	3	2	2	3	0	2	2	5	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:9760839C>T	ENST00000262441.5	+	6	1224	c.711C>T	c.(709-711)aaC>aaT	p.N237N	GLP2R_ENST00000574745.1_Silent_p.N57N	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	237					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCTTCTACAACTCTTACTCCA	0.507																																																	0													203	161	175					17																	9760839		2203	4300	6503	SO:0001819	synonymous_variant	0			AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"GPCR / Class B : Glucagon receptors"	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.711C>T	17.37:g.9760839C>T			Q4VAT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.N237	ENST00000262441.5	37	c.711	CCDS11150.1	17	.	.	.	.	.	.	.	.	.	.	C	9.382	1.073151	0.20147	.	.	ENSG00000065325	ENST00000458005	.	.	.	5.28	0.342	0.15996	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.48696	D	0.999698	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	4.6812	0.12736	0.6297:0.2244:0.0:0.1459	.	.	.	.	I	90	.	.	T	+	2	0	GLP2R	9701564	0.038000	0.19896	0.750000	0.31169	0.980000	0.70556	0.042000	0.13949	0.234000	0.21139	0.655000	0.94253	ACT	GLP2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000065325		0.507	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLP2R	HGNC	protein_coding	OTTHUMT00000252601.4	-	0	94	0	C			9760839	1	tier1	-	no_errors	ENST00000262441	ensembl	human	known	74_37	silent	17.07	68	14	SNP	0.654	T	T	9760839	C	T	9760839	2	4	112	1	0	0	0	0	0	0	0	1	6479	564	20	3		3	GLP2R	17	9760839	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	2182283	9760839	71434371	156	30444											
MYH1	4619	genome.wustl.edu	37	chr17	10408304	10408304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggaggggtttgatcttGaaatacagcttcatccaggg	10	12	13	6	0	2	3	1	3	1	0	3	4	3	4	1	4	2	2	1	4	2	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:10408304G>T	ENST00000226207.5	-	22	2608	c.2514C>A	c.(2512-2514)ttC>ttA	p.F838L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	838					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTTGATCTTGAAATACAGCT	0.463																																																	0													120	112	115					17																	10408304		2203	4300	6503	SO:0001583	missense	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"Myosins / Myosin superfamily : Class II"	7567	protein-coding gene	gene with protein product	"myosin heavy chain IIx/d"	160730	"myosin, heavy polypeptide 1, skeletal muscle, adult"			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2514C>A	17.37:g.10408304G>T	ENSP00000226207:p.Phe838Leu		Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F838L	ENST00000226207.5	37	c.2514	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.151013	0.94645	.	.	ENSG00000109061	ENST00000226207	T	0.70986	-0.53	5.47	5.47	0.80525	.	0.000000	0.45126	U	0.000399	T	0.81083	0.4749	M	0.91920	3.255	0.80722	D	1	B	0.33266	0.404	B	0.38020	0.263	T	0.83127	-0.0115	10	0.62326	D	0.03	.	19.6961	0.96026	0.0:0.0:1.0:0.0	.	838	P12882	MYH1_HUMAN	L	838	ENSP00000226207:F838L	ENSP00000226207:F838L	F	-	3	2	MYH1	10349029	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.517000	0.60503	2.745000	0.94114	0.650000	0.86243	TTC	MYH1	-	superfamily_P-loop_NTPase	ENSG00000109061		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	-	0	83	0	G	NM_005963		10408304	-1	tier1	-	no_errors	ENST00000226207	ensembl	human	known	74_37	missense	51.14	43	45	SNP	1.000	T	T	10408304	G	T	10408304	3	4	112	1	0	0	0	0	1	0	0	0	10067	1281	45	3	3381	3	MYH1	17	10408304	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	647465	10408304	70786906	157	30445											
CD300LG	146894	genome.wustl.edu	37	chr17	41926113	41926113	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggagacaatgaagggCagggtgtccatccgtgacag	11	5	16	9	1	0	3	0	2	0	1	2	4	2	3	3	4	0	1	3	4	2	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:41926113C>A	ENST00000317310.4	+	2	272	c.231C>A	c.(229-231)ggC>ggA	p.G77G	CD300LG_ENST00000586233.1_Silent_p.G77G|CD300LG_ENST00000377203.4_Silent_p.G77G|CD300LG_ENST00000539718.1_Silent_p.G77G|CD300LG_ENST00000588884.1_Silent_p.G77G|CD300LG_ENST00000293396.8_Silent_p.G77G	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	77	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAATGAAGGGCAGGGTGTCCA	0.592																																																	0													100	87	92					17																	41926113		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"Immunoglobulin superfamily / V-set domain containing"	30455	protein-coding gene	gene with protein product	"nepmucin"	610520	"CD300 antigen like family member G"			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.231C>A	17.37:g.41926113C>A			B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.G77	ENST00000317310.4	37	c.231	CCDS11470.1	17																																																																																			CD300LG	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000161649		0.592	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	HGNC	protein_coding	OTTHUMT00000457646.1	-	0	15	0	C	NM_145273		41926113	1	tier1	-	no_errors	ENST00000317310	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.001	A	A	41926113	C	A	41926113	2	1	112	1	0	0	0	0	0	0	0	1	3009	697	25	3		3	CD300LG	17	41926113	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	31517809	41926113	39269097	158	30446											
MTMR4	9110	genome.wustl.edu	37	chr17	56569953	56569953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatatggtctggaacccagCgagtcacctaatagaaggca	13	7	10	11	1	2	1	1	0	1	1	2	3	2	2	3	3	2	1	3	3	5	3	rs369998064		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:56569953C>T	ENST00000323456.5	-	18	3453	c.3329G>A	c.(3328-3330)cGc>cAc	p.R1110H	MTMR4_ENST00000579925.1_Missense_Mutation_p.R1053H	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1110					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGAACCCAGCGAGTCACCTA	0.448																																																	0								C	HIS/ARG	0,4406		0,0,2203	157	150	152		3329	5.8	1	17		152	1,8599	1.2+/-3.3	0,1,4299	no	missense	MTMR4	NM_004687.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1110/1196	56569953	1,13005	2203	4300	6503	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3329G>A	17.37:g.56569953C>T	ENSP00000325285:p.Arg1110His		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.R1110H	ENST00000323456.5	37	c.3329	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.336233	0.95758	0.0	1.16E-4	ENSG00000108389	ENST00000323456	T	0.72394	-0.65	5.82	5.82	0.92795	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	N	0.25485	0.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78858	-0.2038	10	0.59425	D	0.04	.	19.0936	0.93240	0.0:1.0:0.0:0.0	.	1110	Q9NYA4	MTMR4_HUMAN	H	1110	ENSP00000325285:R1110H	ENSP00000325285:R1110H	R	-	2	0	MTMR4	53924952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.757000	0.94681	0.655000	0.94253	CGC	MTMR4	-	pfam_Znf_FYVE,smart_Znf_FYVE	ENSG00000108389		0.448	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	-	0	42	0	C	NM_004687		56569953	-1	tier1	-	no_errors	ENST00000323456	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	T	T	56569953	C	T	56569953	3	4	112	1	0	0	0	0	1	0	0	0	9984	768	27	1	266	1	MTMR4	17	56569953	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	14643840	56569953	24625257	159	30447											
CLTC	1213	genome.wustl.edu	37	chr17	57742246	57742246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatgttagttcaagatgaAgagcctcttgctgacatcac	13	11	8	9	0	3	4	2	2	1	2	3	4	3	4	1	0	2	3	1	0	4	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:57742246A>T	ENST00000269122.3	+	10	1894	c.1620A>T	c.(1618-1620)gaA>gaT	p.E540D	CLTC_ENST00000393043.1_Missense_Mutation_p.E540D|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	540	Distal segment.|Heavy chain arm.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCAAGATGAAGAGCCTCTTG	0.433			T	"ALK, TFE3"	"ALCL, renal "																																			Dom	yes		17	17q11-qter	1213	"clathrin, heavy polypeptide (Hc)"		L	0													112	106	108					17																	57742246		2203	4300	6503	SO:0001583	missense	0			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"clathrin, heavy polypeptide (Hc)", "clathrin, heavy chain", "clathrin, heavy polypeptide-like 2"	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1620A>T	17.37:g.57742246A>T	ENSP00000269122:p.Glu540Asp		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E540D	ENST00000269122.3	37	c.1620	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	A	14.41	2.526595	0.44969	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.22336	1.96;1.96	5.45	4.37	0.52481	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	N	0.04387	-0.21	0.80722	D	1	P;B	0.36282	0.546;0.0	P;B	0.44946	0.465;0.006	T	0.26883	-1.0090	10	0.19590	T	0.45	.	8.5919	0.33693	0.8518:0.0:0.1482:0.0	.	540;540	Q00610;Q00610-2	CLH1_HUMAN;.	D	540	ENSP00000269122:E540D;ENSP00000376763:E540D	ENSP00000269122:E540D	E	+	3	2	CLTC	55097028	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.662000	0.46766	1.021000	0.39600	0.460000	0.39030	GAA	CLTC	-	superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000141367		0.433	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	-	0	55	0	A	NM_004859		57742246	1	tier1	-	no_errors	ENST00000269122	ensembl	human	known	74_37	missense	17.39	57	12	SNP	1.000	T	T	57742246	A	T	57742246	3	4	112	1	0	0	0	0	1	0	0	0	3573	69	3	5	1658	5	CLTC	17	57742246	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	1172293	57742246	23452964	160	30448											
BPTF	2186	genome.wustl.edu	37	chr17	65905779	65905779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaataaaaatagagcCtgattctgaaaaagatgagg	23	7	8	3	0	1	5	0	3	1	2	1	5	1	5	1	1	1	0	1	1	10	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr17:65905779C>T	ENST00000321892.4	+	12	3333	c.3272C>T	c.(3271-3273)cCt>cTt	p.P1091L	BPTF_ENST00000335221.5_Missense_Mutation_p.P1091L|BPTF_ENST00000306378.6_Missense_Mutation_p.P965L|BPTF_ENST00000424123.3_Missense_Mutation_p.P952L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1091					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAATAGAGCCTGATTCTGAA	0.333																																																	0													45	47	46					17																	65905779		2203	4300	6503	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3272C>T	17.37:g.65905779C>T	ENSP00000315454:p.Pro1091Leu		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P1091L	ENST00000321892.4	37	c.3272		17	.	.	.	.	.	.	.	.	.	.	C	11.03	1.519182	0.27211	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.61859	0.08;0.07;0.08	6.07	-0.0978	0.13631	.	.	.	.	.	T	0.32496	0.0831	N	0.14661	0.345	0.30902	N	0.729219	B;B	0.09022	0.001;0.002	B;B	0.09377	0.004;0.001	T	0.22695	-1.0209	9	0.45353	T	0.12	-0.0061	1.7479	0.02966	0.1458:0.3635:0.302:0.1887	.	965;1091	Q12830-2;Q12830-4	.;.	L	965;1091;1091	ENSP00000307208:P965L;ENSP00000334351:P1091L;ENSP00000315454:P1091L	ENSP00000307208:P965L	P	+	2	0	BPTF	63336241	0.996000	0.38824	0.992000	0.48379	0.981000	0.71138	0.584000	0.23864	0.063000	0.16370	-0.140000	0.14226	CCT	BPTF	-	NULL	ENSG00000171634		0.333	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		-	0	46	0	C	NM_182641, NM_004459		65905779	1	tier1	-	no_errors	ENST00000321892	ensembl	human	known	74_37	missense	14.29	30	5	SNP	0.981	T	T	65905779	C	T	65905779	3	4	112	1	0	0	0	0	1	0	0	0	1499	681	24	3	3318	3	BPTF	17	65905779	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	8163533	65905779	15289431	161	30449											
USP14	9097	genome.wustl.edu	37	chr18	211238	211238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcgcttacgttctactctAtgggcctcgcagagttgaaa	9	13	9	10	3	2	2	0	1	2	1	4	2	2	2	1	1	2	4	1	1	5	6			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr18:211238A>G	ENST00000261601.7	+	16	1530	c.1439A>G	c.(1438-1440)tAt>tGt	p.Y480C	USP14_ENST00000400266.3_Missense_Mutation_p.Y469C|USP14_ENST00000582707.1_Missense_Mutation_p.Y445C|USP14_ENST00000383589.2_Missense_Mutation_p.Y434C	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	480	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GTTCTACTCTATGGGCCTCGC	0.373																																																	0													108	99	102					18																	211238		2203	4300	6503	SO:0001583	missense	0			U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"Ubiquitin-specific peptidases"	12612	protein-coding gene	gene with protein product		607274	"ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.1439A>G	18.37:g.211238A>G	ENSP00000261601:p.Tyr480Cys		J3QRZ5|Q53XY5	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.Y480C	ENST00000261601.7	37	c.1439	CCDS32780.1	18	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258889	0.80246	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.70045	-0.45;-0.45	6.03	6.03	0.97812	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.053294	0.85682	D	0.000000	D	0.87916	0.6298	H	0.96833	3.89	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.997	D;D;D	0.71656	0.974;0.957;0.957	D	0.91838	0.5481	10	0.87932	D	0	-19.2159	16.5582	0.84512	1.0:0.0:0.0:0.0	.	469;445;480	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	C	480;445;469	ENSP00000261601:Y480C;ENSP00000383125:Y469C	ENSP00000261601:Y480C	Y	+	2	0	USP14	201238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.308000	0.77769	0.533000	0.62120	TAT	USP14	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000101557		0.373	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP14	HGNC	protein_coding	OTTHUMT00000440305.3	-	0	38	0	A	NM_005151		211238	1	tier1	-	no_errors	ENST00000261601	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	G	G	211238	A	G	211238	3	3	112	1	0	0	0	0	1	0	0	0	17094	449	16	4	1501	4	USP14	18	211238	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09		211238	77866010	162	30450											
ANKRD30B	374860	genome.wustl.edu	37	chr18	14784464	14784464	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaaacccatttagccTgccgttgaaatgcaaaagac	13	10	6	12	1	1	2	0	1	1	1	2	2	2	2	4	0	4	2	4	0	5	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr18:14784464T>A	ENST00000358984.4	+	14	1782	c.1602T>A	c.(1600-1602)ccT>ccA	p.P534P	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.P534P	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	534										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CCATTTAGCCTGCCGTTGAAA	0.299																																																	0													143	107	118					18																	14784464		692	1591	2283	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"Ankyrin repeat domain containing"	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1602T>A	18.37:g.14784464T>A			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P534	ENST00000358984.4	37	c.1602	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.299	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0	139	0	T	NM_001145029		14784464	1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	16.43	117	23	SNP	0.030	A	A	14784464	T	A	14784464	2	1	112	1	0	0	0	0	0	0	0	1	659	1567	55	5		5	ANKRD30B	18	14784464	Silent	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	14573226	14784464	63292784	163	30451											
KLHL14	57565	genome.wustl.edu	37	chr18	30260215	30260215	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttttgtgttcatatctTgttttcgagcccagacatcc	7	16	7	11	2	2	1	1	0	1	1	4	2	3	1	2	0	1	3	2	0	1	7			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr18:30260215T>C	ENST00000359358.4	-	7	1943	c.1505A>G	c.(1504-1506)cAa>cGa	p.Q502R		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	502						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTTCATATCTTGTTTTCGAGC	0.378																																																	0													163	142	149					18																	30260215		2203	4300	6503	SO:0001583	missense	0			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"Kelch-like", "BTB/POZ domain containing"	29266	protein-coding gene	gene with protein product	"printor"	613772	"kelch-like 14 (Drosophila)"			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1505A>G	18.37:g.30260215T>C	ENSP00000352314:p.Gln502Arg		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Q502R	ENST00000359358.4	37	c.1505	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196560	0.79015	.	.	ENSG00000197705	ENST00000359358	T	0.77489	-1.1	5.87	5.87	0.94306	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	N	0.02842	-0.48	0.80722	D	1	P	0.49559	0.925	D	0.67900	0.954	T	0.82653	-0.0351	10	0.66056	D	0.02	.	16.2674	0.82597	0.0:0.0:0.0:1.0	.	502	Q9P2G3	KLH14_HUMAN	R	502	ENSP00000352314:Q502R	ENSP00000352314:Q502R	Q	-	2	0	KLHL14	28514213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.673000	0.83973	2.242000	0.73789	0.533000	0.62120	CAA	KLHL14	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197705		0.378	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	-	0	54	0	T			30260215	-1	tier1	-	no_errors	ENST00000359358	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	C	C	30260215	T	C	30260215	3	2	112	1	0	0	0	0	1	0	0	0	8397	1812	63	4	393	4	KLHL14	18	30260215	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	15475751	30260215	47817033	164	30452											
ASXL3	80816	genome.wustl.edu	37	chr18	31319646	31319646	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaatttccaactcttccAtaaatgagagaatggcacat	14	11	5	11	0	1	2	0	1	1	1	4	3	4	2	3	1	1	1	3	1	5	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr18:31319646A>T	ENST00000269197.5	+	11	2278	c.2278A>T	c.(2278-2280)Ata>Tta	p.I760L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	760	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACTCTTCCATAAATGAGAG	0.453																																																	0													109	110	110					18																	31319646		1904	4125	6029	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2278A>T	18.37:g.31319646A>T	ENSP00000269197:p.Ile760Leu		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.I760L	ENST00000269197.5	37	c.2278	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	A	5.122	0.208214	0.09704	.	.	ENSG00000141431	ENST00000269197	T	0.12984	2.63	5.93	0.562	0.17290	.	1.389290	0.03964	N	0.290478	T	0.06690	0.0171	N	0.08118	0	0.19945	N	0.999947	B	0.02656	0.0	B	0.01281	0.0	T	0.33828	-0.9853	10	0.22109	T	0.4	.	3.0263	0.06092	0.4761:0.2523:0.0621:0.2095	.	760	Q9C0F0	ASXL3_HUMAN	L	760	ENSP00000269197:I760L	ENSP00000269197:I760L	I	+	1	0	ASXL3	29573644	0.358000	0.24947	0.783000	0.31826	0.391000	0.30476	0.392000	0.20801	-0.123000	0.11745	0.460000	0.39030	ATA	ASXL3	-	NULL	ENSG00000141431		0.453	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2		0	18	0	A			31319646	1			no_errors	ENST00000269197	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.895	T	T	31319646	A	T	31319646	3	4	112	1	0	0	0	0	1	0	0	0	1069	217	8	5	2320	5	ASXL3	18	31319646	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	1059431	31319646	46757602	165	30453											
FHOD3	80206	genome.wustl.edu	37	chr18	34298061	34298061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcggctgtttggacaatCggggcagtgtgaaagcattt	9	12	14	6	2	0	1	0	1	0	0	2	2	0	2	0	4	1	4	0	4	2	2	rs373880183		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr18:34298061C>T	ENST00000359247.4	+	15	2224	c.2224C>T	c.(2224-2226)Cgg>Tgg	p.R742W	FHOD3_ENST00000590592.1_Missense_Mutation_p.R934W|FHOD3_ENST00000592128.1_5'Flank|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Missense_Mutation_p.R759W|FHOD3_ENST00000445677.1_Missense_Mutation_p.R721W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	742					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TTTGGACAATCGGGGCAGTGT	0.562																																																	0													90	96	94					18																	34298061		2203	4300	6503	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.2224C>T	18.37:g.34298061C>T	ENSP00000352186:p.Arg742Trp		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.R759W	ENST00000359247.4	37	c.2275		18	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512145	0.64522	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.33216	1.42;1.42;1.43	4.78	2.95	0.34219	.	0.061523	0.64402	D	0.000004	T	0.42966	0.1226	L	0.36672	1.1	0.37716	D	0.924732	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.75020	0.985;0.947;0.555	T	0.45131	-0.9282	10	0.72032	D	0.01	.	12.3521	0.55155	0.3078:0.6922:0.0:0.0	.	721;742;759	Q2V2M9-2;Q2V2M9;Q2V2M9-3	.;FHOD3_HUMAN;.	W	759;742;721	ENSP00000257209:R759W;ENSP00000352186:R742W;ENSP00000411430:R721W	ENSP00000257209:R759W	R	+	1	2	FHOD3	32552059	0.995000	0.38212	0.995000	0.50966	0.980000	0.70556	2.960000	0.49161	0.412000	0.25729	0.455000	0.32223	CGG	FHOD3	-	NULL	ENSG00000134775		0.562	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	-	0	105	0	C	XM_371114		34298061	1	tier1	-	no_errors	ENST00000257209	ensembl	human	known	74_37	missense	20.54	89	23	SNP	1.000	T	T	34298061	C	T	34298061	3	4	112	1	0	0	0	0	1	0	0	0	5905	875	31	1	2337	1	FHOD3	18	34298061	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	2978415	34298061	43779187	166	30454											
ATP8B3	148229	genome.wustl.edu	37	chr19	1809675	1809675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccagcacaggatcacCttctccttgaactgcccgtt	7	12	7	15	1	2	1	1	1	1	0	3	2	2	2	4	1	4	2	4	1	1	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:1809675C>T	ENST00000310127.6	-	4	607	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ATP8B3_ENST00000539485.1_Silent_p.K123K|ATP8B3_ENST00000526092.2_Silent_p.K70K|ATP8B3_ENST00000525591.1_Silent_p.K70K	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	123					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGATCACCTTCTCCTTGA	0.622																																																	0													69	78	75					19																	1809675		1969	4153	6122	SO:0001819	synonymous_variant	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"ATPases / P-type"	13535	protein-coding gene	gene with protein product	"aminophospholipid translocase ATP8B3", "potential phospholipid-transporting ATPase IK"	605866	"ATPase, Class I, type 8B, member 3", "ATPase, class I, type 8B, member 3"			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.369G>A	19.37:g.1809675C>T			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	NULL	p.R86K	ENST00000310127.6	37	c.257	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	c	11.08	1.533665	0.27387	.	.	ENSG00000130270	ENST00000533993	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	T	0.61022	0.2314	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59526	-0.7438	4	.	.	.	.	10.429	0.44395	0.0:0.9019:0.0:0.0981	.	.	.	.	K	86	.	.	R	-	2	0	ATP8B3	1760675	0.001000	0.12720	0.791000	0.31998	0.212000	0.24457	0.173000	0.16724	2.027000	0.59764	0.561000	0.74099	AGG	ATP8B3	-	NULL	ENSG00000130270		0.622	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	-	0	46	0	C	NM_138813		1809675	-1	tier1	-	no_errors	ENST00000531925	ensembl	human	known	74_37	missense	24.00	38	12	SNP	0.986	T	T	1809675	C	T	1809675	2	4	112	1	0	0	0	0	0	0	0	1	1197	680	24	3		3	ATP8B3	19	1809675	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09		1809675	57319308	167	30455											
TLE2	7089	genome.wustl.edu	37	chr19	3005571	3005571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggcgccgtccgtgtggCcctggaactgcctggaggga	5	7	17	12	3	0	0	0	0	0	0	1	3	1	3	4	5	3	1	4	5	1	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:3005571C>A	ENST00000262953.6	-	17	2022	c.1760G>T	c.(1759-1761)gGc>gTc	p.G587V	TLE2_ENST00000443826.3_Missense_Mutation_p.G465V|TLE2_ENST00000590536.1_Missense_Mutation_p.G588V|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000455444.2_Missense_Mutation_p.G465V|TLE2_ENST00000426948.2_Missense_Mutation_p.G601V|TLE2_ENST00000591529.1_Missense_Mutation_p.G601V|TLE2_ENST00000447365.2_Missense_Mutation_p.G254V	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	587					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCGTGTGGCCCTGGAACTG	0.657																																																	0													39	45	43					19																	3005571		2054	4230	6284	SO:0001583	missense	0			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"WD repeat domain containing"	11838	protein-coding gene	gene with protein product	"enhancer of split groucho 2"	601041	"transducin-like enhancer of split 2, homolog of Drosophila E(sp1)", "transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1760G>T	19.37:g.3005571C>A	ENSP00000262953:p.Gly587Val		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G587V	ENST00000262953.6	37	c.1760	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	C	17.12	3.306975	0.60305	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	4.36	3.3	0.37823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	0.995;1.0;1.0;0.991;0.991	D;D;D;P;P	0.97110	0.935;1.0;0.999;0.906;0.906	D	0.84003	0.0344	10	0.87932	D	0	-14.7759	12.289	0.54807	0.0:0.8272:0.1728:0.0	.	465;254;601;465;587	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	V	587;465;136;581;254;465;601	ENSP00000262953:G587V;ENSP00000413107:G465V;ENSP00000406523:G254V;ENSP00000392427:G465V;ENSP00000392869:G601V	ENSP00000262953:G587V	G	-	2	0	TLE2	2956571	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.879000	0.69690	1.163000	0.42636	0.462000	0.41574	GGC	TLE2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000065717		0.657	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	-	0	35	0	C	NM_003260		3005571	-1	tier1	-	no_errors	ENST00000262953	ensembl	human	known	74_37	missense	18.18	18	4	SNP	1.000	A	A	3005571	C	A	3005571	3	1	112	1	0	0	0	0	1	0	0	0	15986	739	26	3	487	3	TLE2	19	3005571	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	1195896	3005571	56123412	168	30456											
TRIP10	9322	genome.wustl.edu	37	chr19	6751205	6751205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcccacctcctacctcCgagtcacgctcaattgaacc	9	8	6	18	3	2	1	2	1	0	0	4	2	4	1	6	0	3	1	6	0	3	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:6751205C>T	ENST00000313244.9	+	15	1824	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Nonsense_Mutation_p.R541*|TRIP10_ENST00000600428.1_Nonsense_Mutation_p.R433*|TRIP10_ENST00000596758.1_Silent_p.S550S			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	597	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G. {ECO:0000250}.|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CTCCTACCTCCGAGTCACGCT	0.617																																																	0													63	69	67					19																	6751205		2203	4300	6503	SO:0001587	stop_gained	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"Cdc42-interacting protein"	604504	"salt tolerator"	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1789C>T	19.37:g.6751205C>T	ENSP00000320117:p.Arg597*		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Nonsense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.R597*	ENST00000313244.9	37	c.1789		19	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145906	0.77888	.	.	ENSG00000125733	ENST00000313285;ENST00000313244	.	.	.	4.84	3.79	0.43588	.	0.569877	0.16222	N	0.224005	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-11.8101	11.7263	0.51712	0.0:0.6556:0.3444:0.0	.	.	.	.	X	541;597	.	ENSP00000320117:R597X	R	+	1	2	TRIP10	6702205	0.160000	0.22878	0.993000	0.49108	0.148000	0.21650	0.697000	0.25556	1.379000	0.46325	0.305000	0.20034	CGA	TRIP10	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000125733		0.617	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	-	0	35	0	C			6751205	1	tier1	-	no_errors	ENST00000313244	ensembl	human	known	74_37	nonsense	23.33	23	7	SNP	0.991	T	T	6751205	C	T	6751205	4	4	112	1	0	0	0	0	0	1	0	0	16602	644	23	1	1675	1	TRIP10	19	6751205	Nonsense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	3745634	6751205	52377778	169	30457											
MUC16	94025	genome.wustl.edu	37	chr19	9073177	9073177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgaaagcaacagaagaagGtaaggttgtgacaaggacag	17	6	14	4	0	0	4	0	2	0	2	0	5	0	5	0	3	2	3	0	3	6	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:9073177G>A	ENST00000397910.4	-	3	14472	c.14269C>T	c.(14269-14271)Cct>Tct	p.P4757S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4759	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAGAAGAAGGTAAGGTTGTG	0.483																																																	0													112	107	108					19																	9073177		2091	4212	6303	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14269C>T	19.37:g.9073177G>A	ENSP00000381008:p.Pro4757Ser		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P4757S	ENST00000397910.4	37	c.14269	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	1.998	-0.430250	0.04701	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	1.48	-2.91	0.05631	.	.	.	.	.	T	0.13713	0.0332	L	0.29908	0.895	.	.	.	B	0.20459	0.045	B	0.12837	0.008	T	0.31916	-0.9926	8	0.87932	D	0	.	0.522	0.00613	0.1842:0.2434:0.3264:0.246	.	4757	B5ME49	.	S	4757	ENSP00000381008:P4757S	ENSP00000381008:P4757S	P	-	1	0	MUC16	8934177	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.323000	0.07997	-0.733000	0.04850	-0.828000	0.03084	CCT	MUC16	-	NULL	ENSG00000181143		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0	90	0	G	NM_024690		9073177	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	25.00	63	21	SNP	0.001	A	A	9073177	G	A	9073177	3	1	112	1	0	0	0	0	1	0	0	0	10011	1261	44	3	29582	3	MUC16	19	9073177	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	2321972	9073177	50055806	170	30458											
OR7D4	125958	genome.wustl.edu	37	chr19	9324685	9324685	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgaccatggcgtacaTcactgaggcggtggagctgc	7	7	18	9	2	1	2	1	2	0	0	1	3	1	3	1	6	3	2	1	6	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:9324685T>G	ENST00000308682.2	-	1	857	c.829A>C	c.(829-831)Atg>Ctg	p.M277L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ATGGCGTACATCACTGAGGCG	0.562																																																	0													71	63	66					19																	9324685		2203	4300	6503	SO:0001583	missense	0				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.829A>C	19.37:g.9324685T>G	ENSP00000310488:p.Met277Leu		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M277L	ENST00000308682.2	37	c.829	CCDS32901.1	19	.	.	.	.	.	.	.	.	.	.	T	4.478	0.088631	0.08583	.	.	ENSG00000174667	ENST00000308682	T	0.00021	9.03	3.49	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.00109	0.0003	L	0.37561	1.115	0.18873	N	0.999983	B	0.20052	0.041	B	0.24269	0.052	T	0.27536	-1.0071	10	0.59425	D	0.04	.	5.3414	0.15986	0.0:0.1365:0.0:0.8635	.	277	Q8NG98	OR7D4_HUMAN	L	277	ENSP00000310488:M277L	ENSP00000310488:M277L	M	-	1	0	OR7D4	9185685	0.000000	0.05858	0.398000	0.26321	0.092000	0.18411	-0.890000	0.04140	0.558000	0.29135	0.172000	0.16884	ATG	OR7D4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174667		0.562	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	HGNC	protein_coding	OTTHUMT00000449004.1	-	0	55	0	T			9324685	-1	tier1	-	no_errors	ENST00000308682	ensembl	human	known	74_37	missense	15.79	32	6	SNP	0.020	G	G	9324685	T	G	9324685	3	3	112	1	0	0	0	0	1	0	0	0	11259	1435	50	4	113	4	OR7D4	19	9324685	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09	251508	9324685	49804298	171	30459											
KEAP1	9817	genome.wustl.edu	37	chr19	10610154	10610154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgaagttggcgatgcCgatggcattgctggggtcca	7	9	15	10	3	1	0	1	0	0	0	2	3	2	0	2	4	3	3	2	4	1	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:10610154C>T	ENST00000171111.5	-	2	1103	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	KEAP1_ENST00000393623.2_Missense_Mutation_p.G186S|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	186	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TTGGCGATGCCGATGGCATTG	0.592																																																	0													105	85	92					19																	10610154		2203	4300	6503	SO:0001583	missense	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"Kelch-like", "BTB/POZ domain containing"	23177	protein-coding gene	gene with protein product	"kelch-like family member 19"	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.556G>A	19.37:g.10610154C>T	ENSP00000171111:p.Gly186Ser		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G186S	ENST00000171111.5	37	c.556	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990571	0.93106	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70282	-0.47;-0.47	4.81	4.81	0.61882	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.82912	0.5140	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85287	0.1065	10	0.87932	D	0	.	15.3825	0.74669	0.0:1.0:0.0:0.0	.	186	Q14145	KEAP1_HUMAN	S	186	ENSP00000171111:G186S;ENSP00000377245:G186S	ENSP00000171111:G186S	G	-	1	0	KEAP1	10471154	1.000000	0.71417	0.996000	0.52242	0.916000	0.54674	5.912000	0.69948	2.232000	0.73038	0.561000	0.74099	GGC	KEAP1	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.592	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0	24	0	C	NM_012289		10610154	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	missense	14.29	18	3	SNP	1.000	T	T	10610154	C	T	10610154	3	4	112	1	0	0	0	0	1	0	0	0	8168	652	23	1	1338	1	KEAP1	19	10610154	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	1285469	10610154	48518829	172	30460											
CCDC151	115948	genome.wustl.edu	37	chr19	11537524	11537524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagataggccttgagctgCaggtacacgctggtaatgtg	10	11	13	7	1	0	2	0	1	0	1	0	2	0	2	1	3	3	5	1	3	4	5			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:11537524C>A	ENST00000356392.4	-	5	780	c.693G>T	c.(691-693)ctG>ctT	p.L231L	CCDC151_ENST00000591179.1_Intron|CCDC151_ENST00000545100.1_Silent_p.L177L|CCDC151_ENST00000586836.1_Silent_p.L40L	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	231										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CCTTGAGCTGCAGGTACACGC	0.612																																																	0													66	68	67					19																	11537524		2106	4233	6339	SO:0001819	synonymous_variant	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.693G>T	19.37:g.11537524C>A			B4DXT0|Q96CG5	Silent	SNP	NULL	p.L231	ENST00000356392.4	37	c.693	CCDS42501.1	19																																																																																			CCDC151	-	NULL	ENSG00000198003		0.612	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	-	0	52	0	C	NM_145045		11537524	-1	tier1	-	no_errors	ENST00000356392	ensembl	human	known	74_37	silent	43.33	17	13	SNP	1.000	A	A	11537524	C	A	11537524	2	1	112	1	0	0	0	0	0	0	0	1	2793	697	25	3		3	CCDC151	19	11537524	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	927370	11537524	47591459	173	30461											
KLF1	10661	genome.wustl.edu	37	chr19	12995819	12995819	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggcgggtcagctcgtcCgagcgcgcgaatctccagcc	6	7	14	14	6	2	0	1	0	1	0	5	2	3	0	3	2	3	1	3	2	2	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:12995819C>T	ENST00000264834.4	-	3	1009	c.969G>A	c.(967-969)tcG>tcA	p.S323S	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	323					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCTCGTCCGAGCGCGCGA	0.652																																																	0													35	39	38					19																	12995819		2203	4300	6503	SO:0001819	synonymous_variant	0			U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	6345	protein-coding gene	gene with protein product	"erythroid Kruppel-like factor"	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.969G>A	19.37:g.12995819C>T			Q6PIJ5|Q92899	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S323	ENST00000264834.4	37	c.969	CCDS12285.1	19																																																																																			KLF1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105610		0.652	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF1	HGNC	protein_coding	OTTHUMT00000451794.1	-	0	53	0	C	NM_006563		12995819	-1	tier1	-	no_errors	ENST00000264834	ensembl	human	known	74_37	silent	14.63	35	6	SNP	0.004	T	T	12995819	C	T	12995819	2	4	112	1	0	0	0	0	0	0	0	1	8364	639	23	1		1	KLF1	19	12995819	Silent	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	1458295	12995819	46133164	174	30462											
CPAMD8	27151	genome.wustl.edu	37	chr19	17119359	17119359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccactctatcatccgagagCctcgggggtcctgttggtgg	5	11	13	12	2	2	1	1	0	1	1	6	2	5	1	4	4	1	1	4	4	1	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:17119359C>A	ENST00000443236.1	-	7	687	c.656G>T	c.(655-657)gGc>gTc	p.G219V	CPAMD8_ENST00000388925.4_Missense_Mutation_p.G172V|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	172						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATCCGAGAGCCTCGGGGGTC	0.542																																																	0													51	52	52					19																	17119359		1937	4146	6083	SO:0001583	missense	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.656G>T	19.37:g.17119359C>A	ENSP00000402505:p.Gly219Val		Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom	p.G219V	ENST00000443236.1	37	c.656	CCDS42519.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.48|17.48	3.401308|3.401308	0.62288|0.62288	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440;ENST00000388925	.|T;T	.|0.79845	.|-1.31;-1.31	2.84|2.84	2.84|2.84	0.33178|0.33178	.|Alpha-2-macroglobulin, N-terminal (1);	.|0.000000	.|0.64402	.|U	.|0.000013	D|D	0.91136|0.91136	0.7209|0.7209	M|M	0.93241|0.93241	3.395|3.395	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.92204|0.92204	0.5770|0.5770	5|10	.|0.54805	.|T	.|0.06	.|.	12.5835|12.5835	0.56403|0.56403	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|172	.|Q8IZJ3	.|CPMD8_HUMAN	S|V	230|219;172	.|ENSP00000291440:G219V;ENSP00000373577:G172V	.|ENSP00000291440:G219V	A|G	-|-	1|2	0|0	CPAMD8|CPAMD8	16980359|16980359	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.727000|0.727000	0.41649|0.41649	5.730000|5.730000	0.68546|0.68546	1.145000|1.145000	0.42336|0.42336	0.563000|0.563000	0.77884|0.77884	GCT|GGC	CPAMD8	-	pfam_A2M_N	ENSG00000160111		0.542	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	-	0	43	0	C	NM_015692		17119359	-1	tier1	-	no_errors	ENST00000443236	ensembl	human	known	74_37	missense	18.42	31	7	SNP	1.000	A	A	17119359	C	A	17119359	3	1	112	1	0	0	0	0	1	0	0	0	3802	739	26	3	5286	3	CPAMD8	19	17119359	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	4123540	17119359	42009624	175	30463											
KIAA0355	9710	genome.wustl.edu	37	chr19	34839998	34839998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagacatcctcagccaacgGggacagcttgttctccatgt	9	10	10	12	1	2	1	1	1	1	1	4	3	3	2	3	2	3	2	3	2	1	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:34839998G>T	ENST00000299505.6	+	12	3638	c.2765G>T	c.(2764-2766)gGg>gTg	p.G922V	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	922										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCAGCCAACGGGGACAGCTTG	0.567																																																	0													127	93	104					19																	34839998		2203	4300	6503	SO:0001583	missense	0				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2765G>T	19.37:g.34839998G>T	ENSP00000299505:p.Gly922Val		Q2M3W4	Missense_Mutation	SNP	NULL	p.G922V	ENST00000299505.6	37	c.2765	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001305	0.93227	.	.	ENSG00000166398	ENST00000299505	T	0.25250	1.81	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.43144	0.1234	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33033	-0.9884	10	0.87932	D	0	-10.6721	19.8981	0.96973	0.0:0.0:1.0:0.0	.	922	O15063	K0355_HUMAN	V	922	ENSP00000299505:G922V	ENSP00000299505:G922V	G	+	2	0	KIAA0355	39531838	1.000000	0.71417	0.845000	0.33349	0.877000	0.50540	9.238000	0.95380	2.710000	0.92621	0.591000	0.81541	GGG	KIAA0355	-	NULL	ENSG00000166398		0.567	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	-	0	82	0	G	NM_014686		34839998	1	tier1	-	no_errors	ENST00000299505	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T	T	34839998	G	T	34839998	3	4	112	1	0	0	0	0	1	0	0	0	8197	1232	43	3	2807	3	KIAA0355	19	34839998	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	17720639	34839998	24288985	176	30464											
CAPNS1	826	genome.wustl.edu	37	chr19	36632053	36632053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggcggcggcggcggcggcgGcggtggtggaggcggcggtg	1	3	27	10	10	0	0	0	0	0	0	0	1	0	1	0	13	0	0	0	13	0	0			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:36632053G>A	ENST00000246533.3	+	2	738	c.140G>A	c.(139-141)gGc>gAc	p.G47D	CAPNS1_ENST00000588815.1_Missense_Mutation_p.G47D|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.G47D|CAPNS1_ENST00000587718.1_Missense_Mutation_p.G47D|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.G47D	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ggcggcggcggcggtggtgga	0.766																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												0													2	2	2					19																	36632053		1240	2623	3863	SO:0001583	missense	0			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"EF-hand domain containing"	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.140G>A	19.37:g.36632053G>A	ENSP00000246533:p.Gly47Asp		A8K0P1|Q8WTX3|Q96EW0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.G47D	ENST00000246533.3	37	c.140	CCDS12489.1	19	.	.	.	.	.	.	.	.	.	.	g	11.07	1.530236	0.27387	.	.	ENSG00000126247	ENST00000246533	D	0.98666	-5.06	4.42	4.42	0.53409	.	0.458108	0.17315	N	0.178731	D	0.97315	0.9122	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	D	0.97276	0.9914	10	0.87932	D	0	.	12.3881	0.55343	0.0:0.0:1.0:0.0	.	47	P04632	CPNS1_HUMAN	D	47	ENSP00000246533:G47D	ENSP00000246533:G47D	G	+	2	0	CAPNS1	41323893	0.000000	0.05858	0.257000	0.24404	0.003000	0.03518	0.342000	0.19926	2.298000	0.77334	0.561000	0.74099	GGC	CAPNS1	-	NULL	ENSG00000126247		0.766	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2		0	18	0	G			36632053	1			no_errors	ENST00000588780	ensembl	human	known	74_37	missense	35.00	13	7	SNP	0.363	A	A	36632053	G	A	36632053	3	1	112	1	0	0	0	0	1	0	0	0	2640	1203	42	3	142	3	CAPNS1	19	36632053	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1792055	36632053	22496930	177	30465											
NUMBL	9253	genome.wustl.edu	37	chr19	41173875	41173877	+	In_Frame_Del	DEL	TGC	TGC	-																															ctgaggctgcttgctgctgtTgctgctgctgctgctgctgc																										TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:41173875_41173877delTGC	ENST00000252891.4	-	10	1493_1495	c.1326_1328delGCA	c.(1324-1329)cagcaa>caa	p.442_443QQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.401_402QQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.401_402QQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	442	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ttgctgctgttgctgctgctgct	0.66																																																	0																																										SO:0001651	inframe_deletion	0			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"numb (Drosophila) homolog-like"			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1326_1328delGCA	19.37:g.41173884_41173886delTGC	ENSP00000252891:p.Gln446del		Q7Z4J9	In_Frame_Del	DEL	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.Q446in_frame_del	ENST00000252891.4	37	c.1328_1326	CCDS12561.1	19																																																																																			NUMBL	-	pirsf_Numb/numb-like	ENSG00000105245		0.66	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	HGNC	protein_coding	OTTHUMT00000462749.2		0	26	0	TGC	NM_004756		41173877	-1	tier1		no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	0.967:0.971:0.977	-	-	41173877	TGC	-	41173875	7	5	112	1	0	1	0	1	0	0	0	0	10791	1812	63	0	505	0	NUMBL	19	41173875	In_Frame_Del	DEL	TGC	TCGA-LN-A4A2-01A-31D-A27G-09	4541822	41173875	17955108	178	30466											
CEACAM19	56971	genome.wustl.edu	37	chr19	45182195	45182195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccccagtgccttcagtgAcgcccagcacatggttggtg	7	10	11	13	1	1	1	1	1	0	0	2	1	2	1	4	2	2	2	4	2	1	3			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:45182195A>G	ENST00000403660.3	+	4	856	c.646A>G	c.(646-648)Acg>Gcg	p.T216A	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Missense_Mutation_p.T216A|CEACAM19_ENST00000480278.1_3'UTR			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	216						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				gccttcagtgacgcccagcac	0.483																																																	0													136	115	122					19																	45182195		2203	4300	6503	SO:0001583	missense	0			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"Immunoglobulin superfamily / V-set domain containing"	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.646A>G	19.37:g.45182195A>G	ENSP00000384887:p.Thr216Ala		Q5XJ15|Q7Z693	Missense_Mutation	SNP	pfam_Ig_V-set	p.T216A	ENST00000403660.3	37	c.646	CCDS12641.1	19	.	.	.	.	.	.	.	.	.	.	a	1.999	-0.429962	0.04701	.	.	ENSG00000186567	ENST00000358777;ENST00000403660	T;T	0.02395	4.31;4.31	.	.	.	.	.	.	.	.	T	0.01835	0.0058	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.49542	-0.8929	7	0.13853	T	0.58	.	.	.	.	.	216;216	Q5XJ15;Q7Z692	.;CEA19_HUMAN	A	216	ENSP00000351627:T216A;ENSP00000384887:T216A	ENSP00000351627:T216A	T	+	1	0	CEACAM19	49874035	0.251000	0.23961	0.481000	0.27354	0.486000	0.33341	-0.402000	0.07223	0.151000	0.19162	0.149000	0.16113	ACG	CEACAM19	-	NULL	ENSG00000186567		0.483	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM19	HGNC	protein_coding	OTTHUMT00000323022.1	-	0	80	0	A	NM_020219		45182195	1	tier1	-	no_errors	ENST00000403660	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.544	G	G	45182195	A	G	45182195	3	3	112	1	0	0	0	0	1	0	0	0	3197	275	10	4	660	4	CEACAM19	19	45182195	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	4008320	45182195	13946788	179	30467											
ZNF578	147660	genome.wustl.edu	37	chr19	53014266	53014266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctaataactatgggaataAttttttccattcatcattac	13	17	3	8	0	2	0	2	0	0	0	4	1	4	1	2	1	2	0	2	1	6	9			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:53014266A>T	ENST00000421239.2	+	6	876	c.632A>T	c.(631-633)aAt>aTt	p.N211I	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TATGGGAATAATTTTTTCCAT	0.363																																																	0													65	69	67					19																	53014266		2201	4298	6499	SO:0001583	missense	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"Zinc fingers, C2H2-type", "-"	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.632A>T	19.37:g.53014266A>T	ENSP00000459216:p.Asn211Ile		B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N211I	ENST00000421239.2	37	c.632	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	9.540	1.113044	0.20795	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.42	-2.83	0.05769	.	.	.	.	.	T	0.35158	0.0922	L	0.41356	1.27	0.09310	N	1	D	0.61697	0.99	P	0.59487	0.858	T	0.17961	-1.0352	7	.	.	.	.	0.4879	0.00559	0.2728:0.2741:0.2619:0.1911	.	211	G3V4F6	.	I	211	.	.	N	+	2	0	ZNF578	57706078	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-4.005000	0.00315	-2.079000	0.00871	0.113000	0.15668	AAT	ZNF578	-	NULL	ENSG00000258405		0.363	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0	74	0	A	NM_152472		53014266	1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	18.18	45	10	SNP	0.001	T	T	53014266	A	T	53014266	3	4	112	1	0	0	0	0	1	0	0	0	18058	101	4	5	642	5	ZNF578	19	53014266	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	7832071	53014266	6114717	180	30468											
MYADM	91663	genome.wustl.edu	37	chr19	54377333	54377333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctggagaccttcgttGcctgcatcatcttcgcgttc	5	13	11	12	3	2	1	1	0	1	1	5	2	2	1	2	2	3	4	2	2	0	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:54377333G>T	ENST00000391769.2	+	3	830	c.550G>T	c.(550-552)Gcc>Tcc	p.A184S	MYADM_ENST00000391770.4_Missense_Mutation_p.A184S|MYADM_ENST00000391771.1_Missense_Mutation_p.A184S|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000336967.3_Missense_Mutation_p.A184S|MYADM_ENST00000391768.2_Missense_Mutation_p.A184S	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	184	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GACCTTCGTTGCCTGCATCAT	0.642																																																	0													144	120	128					19																	54377333		2203	4300	6503	SO:0001583	missense	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.550G>T	19.37:g.54377333G>T	ENSP00000375649:p.Ala184Ser		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	pfam_Marvel	p.A184S	ENST00000391769.2	37	c.550	CCDS12866.1	19	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419132	0.83559	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.21	4.21	0.49690	Marvel (1);MARVEL-like domain (1);	0.000000	0.64402	D	0.000001	T	0.56804	0.2010	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62497	-0.6842	10	0.54805	T	0.06	-5.2544	14.4575	0.67425	0.0:0.0:1.0:0.0	.	184	Q96S97	MYADM_HUMAN	S	184;184;184;184;184;184;147;184;184	ENSP00000398269:A184S;ENSP00000337222:A184S;ENSP00000375650:A184S;ENSP00000416919:A184S;ENSP00000375651:A184S;ENSP00000375649:A184S;ENSP00000375648:A184S	ENSP00000337222:A184S	A	+	1	0	MYADM	59069145	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	9.742000	0.98846	2.080000	0.62538	0.313000	0.20887	GCC	MYADM	-	pfam_Marvel	ENSG00000179820		0.642	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1	-	0	53	0	G	NM_138373		54377333	1	tier1	-	no_errors	ENST00000336967	ensembl	human	known	74_37	missense	27.03	27	10	SNP	1.000	T	T	54377333	G	T	54377333	3	4	112	1	0	0	0	0	1	0	0	0	10044	1319	46	3	552	3	MYADM	19	54377333	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	1363067	54377333	4751650	181	30469											
ZNF582	147948	genome.wustl.edu	37	chr19	56896193	56896193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattccttacatttatagGgtttctcattagtataaatt	12	18	4	7	0	1	0	1	0	1	0	3	0	2	0	1	1	1	2	1	1	7	10			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:56896193G>T	ENST00000301310.4	-	5	751	c.593C>A	c.(592-594)cCc>cAc	p.P198H	ZNF582_ENST00000586929.1_Missense_Mutation_p.P198H|AC006116.12_ENST00000589671.1_RNA	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACATTTATAGGGTTTCTCATT	0.323																																					Ovarian(183;1887 2032 4349 30507 51343)												0													64	67	66					19																	56896193		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"Zinc fingers, C2H2-type", "-"	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.593C>A	19.37:g.56896193G>T	ENSP00000301310:p.Pro198His		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P198H	ENST00000301310.4	37	c.593	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447831	0.26074	.	.	ENSG00000018869	ENST00000301310	T	0.17528	2.27	4.78	2.68	0.31781	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35262	N	0.003328	T	0.35335	0.0928	M	0.78456	2.415	0.24819	N	0.992592	P;D	0.89917	0.926;1.0	B;D	0.74674	0.379;0.984	T	0.04840	-1.0923	10	0.59425	D	0.04	.	5.6908	0.17829	0.1747:0.0:0.6642:0.161	.	198;229	Q96NG8;B4DQZ9	ZN582_HUMAN;.	H	198	ENSP00000301310:P198H	ENSP00000301310:P198H	P	-	2	0	ZNF582	61588005	0.981000	0.34729	0.323000	0.25347	0.001000	0.01503	2.337000	0.43947	1.369000	0.46134	0.591000	0.81541	CCC	ZNF582	-	pfscan_Znf_C2H2	ENSG00000018869		0.323	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2		0	59	0	G	NM_144690		56896193	-1			no_errors	ENST00000301310	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.783	T	T	56896193	G	T	56896193	3	4	112	1	0	0	0	0	1	0	0	0	18062	1232	43	3	964	3	ZNF582	19	56896193	Missense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	2518860	56896193	2232790	182	30470											
ZNF749	388567	genome.wustl.edu	37	chr19	57955022	57955022	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagctcagaccttctccAgcaacaggtcttaaacagtg	11	9	8	13	0	3	1	1	0	2	1	4	1	3	1	3	1	5	2	3	1	3	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr19:57955022A>G	ENST00000334181.4	+	3	756	c.506A>G	c.(505-507)cAg>cGg	p.Q169R	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GACCTTCTCCAGCAACAGGTC	0.522																																																	0													73	60	65					19																	57955022		2203	4300	6503	SO:0001583	missense	0			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"Zinc fingers, C2H2-type", "-"	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.506A>G	19.37:g.57955022A>G	ENSP00000333980:p.Gln169Arg			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q169R	ENST00000334181.4	37	c.506	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	A	8.093	0.775003	0.16051	.	.	ENSG00000186230	ENST00000334181	T	0.01455	4.87	2.06	0.955	0.19602	.	.	.	.	.	T	0.01061	0.0035	N	0.11927	0.2	0.09310	N	1	P	0.43826	0.818	B	0.38842	0.283	T	0.50816	-0.8783	9	0.16420	T	0.52	.	6.3126	0.21173	0.7065:0.2934:0.0:0.0	.	169	O43361	ZN749_HUMAN	R	169	ENSP00000333980:Q169R	ENSP00000333980:Q169R	Q	+	2	0	ZNF749	62646834	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-2.183000	0.01255	0.230000	0.21059	0.254000	0.18369	CAG	ZNF749	-	NULL	ENSG00000186230		0.522	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	-	0	44	0	A	NM_001023561		57955022	1	tier1	-	no_errors	ENST00000334181	ensembl	human	known	74_37	missense	25.00	26	9	SNP	0.005	G	G	57955022	A	G	57955022	3	3	112	1	0	0	0	0	1	0	0	0	18179	188	7	4	516	4	ZNF749	19	57955022	Missense_Mutation	SNP	A	TCGA-LN-A4A2-01A-31D-A27G-09	1058829	57955022	1173961	183	30471											
IDH3B	3420	genome.wustl.edu	37	chr20	2641145	2641145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgaccttgccccgccccTtcttggtggcatagtcaaag	7	10	10	14	1	2	1	1	1	1	0	2	1	2	1	5	2	1	1	5	2	2	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:2641145T>C	ENST00000380843.4	-	7	653	c.623A>G	c.(622-624)aAg>aGg	p.K208R	IDH3B_ENST00000380851.5_Missense_Mutation_p.K208R|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	208					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GCCCCGCCCCTTCTTGGTGGC	0.532																																																	0													120	107	111					20																	2641145		2203	4300	6503	SO:0001583	missense	0				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.623A>G	20.37:g.2641145T>C	ENSP00000370223:p.Lys208Arg		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.K208R	ENST00000380843.4	37	c.623	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661287	0.47572	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000435594	T;T	0.67698	-0.28;-0.28	5.02	5.02	0.67125	Isopropylmalate dehydrogenase-like domain (2);	0.047372	0.85682	D	0.000000	T	0.47192	0.1432	N	0.05124	-0.11	0.80722	D	1	B;B;B	0.16166	0.016;0.009;0.011	B;B;B	0.22152	0.033;0.022;0.038	T	0.49409	-0.8943	10	0.72032	D	0.01	-17.9953	12.759	0.57352	0.0:0.0:0.0:1.0	.	56;208;208	O43837-3;O43837-2;O43837	.;.;IDH3B_HUMAN	R	208;208;56	ENSP00000370232:K208R;ENSP00000370223:K208R	ENSP00000370223:K208R	K	-	2	0	IDH3B	2589145	1.000000	0.71417	0.999000	0.59377	0.424000	0.31475	3.972000	0.56838	2.117000	0.64856	0.533000	0.62120	AAG	IDH3B	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000101365		0.532	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	-	0	82	0	T			2641145	-1	tier1	-	no_errors	ENST00000380843	ensembl	human	known	74_37	missense	22.41	45	13	SNP	1.000	C	C	2641145	T	C	2641145	3	2	112	1	0	0	0	0	1	0	0	0	7524	1609	56	4	643	4	IDH3B	20	2641145	Missense_Mutation	SNP	T	TCGA-LN-A4A2-01A-31D-A27G-09		2641145	60384375	184	30472											
SLC23A2	9962	genome.wustl.edu	37	chr20	4893541	4893541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccttttctgcaatgccGttttccgtagtgtagatcgc	6	15	10	10	3	1	1	0	0	1	1	3	1	2	1	3	1	3	5	3	1	4	7	rs201503850	byFrequency	TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:4893541G>A	ENST00000379333.1	-	4	584	c.192C>T	c.(190-192)aaC>aaT	p.N64N	SLC23A2_ENST00000424750.2_Silent_p.N64N|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.N64N	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	64					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGCAATGCCGTTTTCCGTAG	0.587													G|||	2	0.000399361	0	0	5008	,	,		12388	0		0	False		,,,				2504	0.002																0													248	200	216					20																	4893541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"Solute carriers"	10973	protein-coding gene	gene with protein product		603791	"solute carrier family 23 (nucleobase transporters), member 1"	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.192C>T	20.37:g.4893541G>A			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	pfam_Xant/urac/vitC	p.N64	ENST00000379333.1	37	c.192	CCDS13085.1	20																																																																																			SLC23A2	-	NULL	ENSG00000089057		0.587	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1		0	25	0	G			4893541	-1			no_errors	ENST00000338244	ensembl	human	known	74_37	silent	9.68	28	3	SNP	0.610	A	A	4893541	G	A	4893541	2	1	112	1	0	0	0	0	0	0	0	1	14508	1136	40	1		1	SLC23A2	20	4893541	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	2252396	4893541	58131979	185	30473											
PLCB1	23236	genome.wustl.edu	37	chr20	8741066	8741066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattacaggttctgtaaaggCacctgccaaaacagaagatc	15	9	8	9	0	1	2	0	0	1	2	2	2	1	2	2	2	3	3	2	2	7	4			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:8741066C>T	ENST00000338037.6	+	25	2696	c.2669C>T	c.(2668-2670)gCa>gTa	p.A890V	PLCB1_ENST00000378641.3_Missense_Mutation_p.A890V|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.A890V	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	890					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCTGTAAAGGCACCTGCCAAA	0.358																																																	0													50	49	49					20																	8741066		2203	4300	6503	SO:0001583	missense	0			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2669C>T	20.37:g.8741066C>T	ENSP00000338185:p.Ala890Val		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A890V	ENST00000338037.6	37	c.2669	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161772	0.57368	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.19669	2.13;2.13;2.13	6.07	6.07	0.98685	.	0.174068	0.51477	D	0.000083	T	0.08802	0.0218	N	0.02011	-0.69	0.36992	D	0.894842	B;B	0.06786	0.001;0.0	B;B	0.09377	0.001;0.004	T	0.24333	-1.0163	10	0.38643	T	0.18	.	10.8974	0.47031	0.0:0.8615:0.0:0.1385	.	890;890	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	V	890;890;890;810;810	ENSP00000367908:A890V;ENSP00000338185:A890V;ENSP00000367904:A890V	ENSP00000338185:A890V	A	+	2	0	PLCB1	8689066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.333000	0.59285	2.885000	0.99019	0.655000	0.94253	GCA	PLCB1	-	pirsf_PLC-beta	ENSG00000182621		0.358	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	-	0	67	0	C			8741066	1	tier1	-	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	16.92	54	11	SNP	1.000	T	T	8741066	C	T	8741066	3	4	112	1	0	0	0	0	1	0	0	0	12066	710	25	3	2767	3	PLCB1	20	8741066	Missense_Mutation	SNP	C	TCGA-LN-A4A2-01A-31D-A27G-09	3847525	8741066	54284454	186	30474											
RRBP1	6238	genome.wustl.edu	37	chr20	17614113	17614113	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccgactcacctgcagctGcaggacctgcttctcgaagg	7	7	11	16	2	2	0	1	0	1	0	3	3	2	1	4	2	4	4	4	2	1	1			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:17614113G>A	ENST00000377813.1	-	8	2905	c.2602C>T	c.(2602-2604)Cag>Tag	p.Q868*	RRBP1_ENST00000246043.4_Nonsense_Mutation_p.Q868*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.Q435*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.Q435*|RRBP1_ENST00000455029.2_Nonsense_Mutation_p.Q209*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	868					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						ACCTGCAGCTGCAGGACCTGC	0.637																																																	0													63	56	58					20																	17614113		2203	4300	6503	SO:0001587	stop_gained	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"ribosome binding protein 1 (dog 180kD homolog)", "ribosome binding protein 1 homolog 180kDa (dog)"			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2602C>T	20.37:g.17614113G>A	ENSP00000367044:p.Gln868*		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Nonsense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.Q868*	ENST00000377813.1	37	c.2602		20	.	.	.	.	.	.	.	.	.	.	G	41	8.871637	0.98984	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	.	.	.	5.45	5.45	0.79879	.	0.000000	0.35585	N	0.003117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-31.6756	18.6332	0.91368	0.0:0.0:1.0:0.0	.	.	.	.	X	435;868;435;868;209	.	ENSP00000246043:Q868X	Q	-	1	0	RRBP1	17562113	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.520000	0.73773	2.714000	0.92807	0.561000	0.74099	CAG	RRBP1	-	NULL	ENSG00000125844		0.637	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	-	0	58	0	G	NM_001042576		17614113	-1	tier1	-	no_errors	ENST00000246043	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	A	A	17614113	G	A	17614113	4	1	112	1	0	0	0	0	0	1	0	0	13723	1328	46	3	1702	3	RRBP1	20	17614113	Nonsense_Mutation	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	8873047	17614113	45411407	187	30475											
LBP	3929	genome.wustl.edu	37	chr20	36982828	36982828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggaggtggacatgtcGggagacttggggtaggtctc	7	9	19	6	2	1	1	0	0	1	1	3	5	1	3	0	7	0	1	0	7	1	2			TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:36982828G>A	ENST00000217407.2	+	4	674	c.513G>A	c.(511-513)tcG>tcA	p.S171S		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	171					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGGACATGTCGGGAGACTTGG	0.617																																																	0													42	37	39					20																	36982828		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"BPI fold containing"	6517	protein-coding gene	gene with protein product	"BPI fold containing family D, member 2"	151990	"lipopolysaccharide-binding protein"			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.513G>A	20.37:g.36982828G>A			B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.S171	ENST00000217407.2	37	c.513	CCDS13304.1	20																																																																																			LBP	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N	ENSG00000129988		0.617	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBP	HGNC	protein_coding	OTTHUMT00000079174.2		0	26	0	G	NM_004139		36982828	1			no_errors	ENST00000217407	ensembl	human	known	74_37	silent	16.67	25	5	SNP	0.000	A	A	36982828	G	A	36982828	2	1	112	1	0	0	0	0	0	0	0	1	8679	1103	39	1		1	LBP	20	36982828	Silent	SNP	G	TCGA-LN-A4A2-01A-31D-A27G-09	19368715	36982828	26042692	188	30476											
PLCG1	5335	genome.wustl.edu	37	chr20	39800921	39800922	+	Frame_Shift_Ins	INS	-	-	G																															tgccggcctgttccctttgaINStgaagagagtaagggccagg																								rs367697370		TCGA-LN-A4A2-01A-31D-A27G-09	TCGA-LN-A4A2-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	0428f112-5bb2-4587-b9e5-99c74ca18527	adec6642-1095-4cd8-9077-dd8f22d1cf14	g.chr20:39800921_39800922insG	ENST00000373271.1	+	25	3302_3303	c.2897_2898insG	c.(2896-2901)gatgaafs	p.DE966fs	PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.DE966fs|PLCG1_ENST00000373272.2_Frame_Shift_Ins_p.DE966fs	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	966	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTTCCCTTTGATGAAGAGAGTA	0.559																																																	0																																										SO:0001589	frameshift_variant	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"Pleckstrin homology (PH) domain containing", "EF-hand domain containing", "SH2 domain containing"	9065	protein-coding gene	gene with protein product		172420	"phospholipase C, gamma 1 (formerly subtype 148)"	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	Exception_encountered	20.37:g.39800921_39800922insG	ENSP00000362368:p.Asp966fs		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Frame_Shift_Ins	INS	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfsca